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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	[tCw_to_G+tCw_to_T]_per_mut	tCw_to_G+tCw_to_T	BH_Fisher_p-value_tCw	APOBEC_enrich	tCw_to_G_enrich	tCw_to_T_enrich	p-value_GvT_skew	BH_p-value_GvT_skew	APOBEC_MutLoad_MinEstimate	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	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_Confidence	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_TVarRat	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
TNFRSF18	8784	hgsc.bcm.edu	37	chr1	1139804	1139804	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccaaggtttgcagtggccttCgtggcccccggagaaggtcc	14	13	0	1	rs531486834		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:1139804C>A	ENST00000379268.2	-	3	492	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	TNFRSF18_ENST00000379265.5_Nonsense_Mutation_p.E125*|TNFRSF18_ENST00000328596.6_Nonsense_Mutation_p.E125*|TNFRSF18_ENST00000486728.1_Nonsense_Mutation_p.E53*	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	125					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.E125K(2)		lung(1)	1	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGTGGCCTTCGTGGCCCCCG	0.647																																					p.E125X	GBM(157;472 1934 13810 14591 35952)	Atlas-SNP	.											TNFRSF18_ENST00000379268,NS,carcinoma,0,2	TNFRSF18	13	2	2	Substitution - Missense(2)	lung(2)	c.G373T						scavenged	.						34	38	37					1																	1139804		2197	4294	6491	SO:0001587	stop_gained	8784	exon3			GGCCTTCGTGGCC	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.373G>T	1.37:g.1139804C>A	ENSP00000368570:p.Glu125*	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	123	4	0.0325203	NM_148902	B1AME1|O95851|Q5U0I4|Q9NYJ9	Nonsense_Mutation	SNP	ENST00000379268.2	37	CCDS10.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385542	0.25031	.	.	ENSG00000186891	ENST00000328596;ENST00000379268;ENST00000379265	.	.	.	3.55	2.6	0.31112	.	0.678176	0.13361	N	0.393645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.6217	10.9468	0.47306	0.0:0.8076:0.1924:0.0	.	.	.	.	X	125	.	ENSP00000328207:E125X	E	-	1	0	TNFRSF18	1129667	0.001000	0.12720	0.099000	0.21106	0.009000	0.06853	1.116000	0.31221	1.035000	0.39972	0.655000	0.94253	GAA	.	.	none		0.647	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		A	1139804	C	A	1139804	4	1	1	1	0	0	0	0	0	1	0	0	16288	893	31	4	617	4	TNFRSF18	1	1139804	Nonsense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10		1139804	248110817	1	1										
PRDM16	63976	hgsc.bcm.edu	37	chr1	3328358	3328358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgcctctgctacctcccacaTcgctgctcaagagccccctg	7	20	2	1	rs870124	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:3328358T>C	ENST00000270722.5	+	9	1646	c.1597T>C	c.(1597-1599)Tcg>Ccg	p.S533P	PRDM16_ENST00000378391.2_Missense_Mutation_p.S533P|PRDM16_ENST00000442529.2_Missense_Mutation_p.S533P|PRDM16_ENST00000511072.1_Missense_Mutation_p.S534P|PRDM16_ENST00000378398.3_Missense_Mutation_p.S534P|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.S533P|PRDM16_ENST00000514189.1_Missense_Mutation_p.S534P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	533	Pro-rich.		S -> P (in dbSNP:rs870124). {ECO:0000269|PubMed:11050005, ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.		brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTCCCACATCGCTGCTCAA	0.687			T	EVI1	"MDS, AML"								C|||	4733	0.945088	0.9924	0.9006	5008	,	,		12650	0.998		0.8419	False		,,,				2504	0.9642				p.S533P		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.T1597C						PASS	.	C	PRO/SER,PRO/SER	3759,127		1817,125,1	63	80	75		1597,1597	5.3	0.9	1	dbSNP_86	75	6902,1358		2895,1112,123	yes	missense,missense	PRDM16	NM_199454.2,NM_022114.3	74,74	4712,1237,124	CC,CT,TT		16.4407,3.2681,12.2262	benign,benign	533/1258,533/1277	3328358	10661,1485	1943	4130	6073	SO:0001583	missense	63976	exon9			CCCACATCGCTGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1597T>C	1.37:g.3328358T>C	ENSP00000270722:p.Ser533Pro	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	10	6	0.6	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	2025	0.9271978021978022	489	0.9939024390243902	315	0.8701657458563536	572	1.0	649	0.8562005277044855	C	2.636	-0.285273	0.05605	0.967319	0.835593	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06068	3.38;3.4;3.41;3.42;3.42;3.4;3.41;3.35;3.35	5.33	5.33	0.75918	.	0.128883	0.33023	N	0.005363	T	0.00012	0.0000	N	0.02539	-0.55	0.37301	P	0.09128199999999997	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	0.40646	-0.9552	9	0.15952	T	0.53	.	14.274	0.66167	0.0:0.928:0.0:0.072	rs870124;rs58280858;rs870124	533;533;533;533	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	P	534;534;533;533;533;534;533;349;349;342	ENSP00000426975:S534P;ENSP00000367651:S534P;ENSP00000407968:S533P;ENSP00000405253:S533P;ENSP00000367643:S533P;ENSP00000421400:S534P;ENSP00000270722:S533P;ENSP00000422504:S349P;ENSP00000425796:S342P	ENSP00000270722:S533P	S	+	1	0	PRDM16	3318218	0.373000	0.25073	0.893000	0.35052	0.878000	0.50629	1.977000	0.40589	1.290000	0.44636	-0.172000	0.13284	TCG	T|0.095;G|0.001	.	strong		0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		C	3328358	T	C	3328358	3	2	1	1	0	0	0	0	1	0	0	0	12457	1435	50	2	1631	2	PRDM16	1	3328358	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	2188554	3328358	245922263	2	2										
RERE	473	hgsc.bcm.edu	37	chr1	8421203	8421203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acaggcgctgtgggagcctgTggctggttaggggcctggga	20	8	0	0	rs13596	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:8421203T>C	ENST00000337907.3	-	19	2998	c.2364A>G	c.(2362-2364)ccA>ccG	p.P788P	RERE_ENST00000476556.1_Silent_p.P234P|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P520P|RERE_ENST00000400908.2_Silent_p.P788P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	788	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGGAGCCTGTGGCTGGTTAG	0.731													t|||	4006	0.79992	0.8411	0.7925	5008	,	,		12992	0.9206		0.6819	False		,,,				2504	0.7464				p.P788P		Atlas-SNP	.											RERE,NS,carcinoma,0,4	RERE	129	4	0			c.A2364G						PASS	.	T	,,	3390,752		1409,572,90	6	7	7		2364,702,2364	-10	0	1	dbSNP_52	7	5605,2589		1942,1721,434	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3351,2293,524	CC,CT,TT		31.5963,18.1555,27.0833	,,	788/1567,234/1013,788/1567	8421203	8995,3341	2071	4097	6168	SO:0001819	synonymous_variant	473	exon19			AGCCTGTGGCTGG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2364A>G	1.37:g.8421203T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																			T|0.214;C|0.786	0.786	strong		0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			C	8421203	T	C	8421203	2	2	1	1	0	0	0	0	0	0	0	1	13231	1683	59	2		2	RERE	1	8421203	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5092845	8421203	240829418	3	3										
TARDBP	23435	hgsc.bcm.edu	37	chr1	11073808	11073808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctgaatatattcgggtaacCgaagatgagaacgatgagcc	11	7	1	4	rs72870030	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:11073808C>T	ENST00000240185.3	+	2	138	c.24C>T	c.(22-24)acC>acT	p.T8T	TARDBP_ENST00000439080.2_5'UTR|TARDBP_ENST00000315091.3_Silent_p.T8T	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	8					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTCGGGTAACCGAAGATGAGA	0.428													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		23229	0.0		0.0	False		,,,				2504	0.0				p.T8T		Atlas-SNP	.											TARDBP,caecum,carcinoma,0,1	TARDBP	31	1	0			c.C24T						scavenged	.	C		9,4397	14.3+/-33.2	0,9,2194	34	31	32		24	-10.6	0.2	1	dbSNP_131	32	0,8598		0,0,4299	no	coding-synonymous	TARDBP	NM_007375.3		0,9,6493	TT,TC,CC		0.0,0.2043,0.0692		8/415	11073808	9,12995	2203	4299	6502	SO:0001819	synonymous_variant	23435	exon2			GGTAACCGAAGAT	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.24C>T	1.37:g.11073808C>T		Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	148	2	0.0135135	NM_007375	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	37	CCDS122.1																																																																																			C|0.999;T|0.001	0.001	strong		0.428	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		T	11073808	C	T	11073808	2	4	1	1	0	0	0	0	0	0	0	1	15554	639	23	1		1	TARDBP	1	11073808	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	2652605	11073808	238176813	4	4										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855752	12855752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaacccctcggagctctgctGgagaaaattgctgcctctct	10	13	2	1	rs80197258	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:12855752G>A	ENST00000332296.7	+	4	1135	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	PRAMEF1_ENST00000400814.3_Silent_p.L99L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	344					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L344L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTCTGCTGGAGAAAATTG	0.557																																					p.L344L		Atlas-SNP	.											PRAMEF1,NS,carcinoma,0,2	PRAMEF1	78	2	2	Substitution - coding silent(2)	prostate(2)	c.G1032A						scavenged	.						188	192	191					1																	12855752		2203	4300	6503	SO:0001819	synonymous_variant	65121	exon4			TCTGCTGGAGAAA	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1032G>A	1.37:g.12855752G>A		Somatic	533	5	0.00938086		WXS	Illumina HiSeq	Phase_I	581	13	0.0223752	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			G|0.997;A|0.003	0.003	strong		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12855752	G	A	12855752	2	1	1	1	0	0	0	0	0	0	0	1	12425	1335	47	2		2	PRAMEF1	1	12855752	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1781944	12855752	236394869	5	5										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907275	12907275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atgtgcttaagagtcatcctGgccattggtgctgtctctgt	11	9	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:12907275G>C	ENST00000317869.6	-	2	1093	c.868C>G	c.(868-870)Cag>Gag	p.Q290E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	290						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAGTCATCCTGGCCATTGGTG	0.443																																					p.Q290E		Atlas-SNP	.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	1	0			c.C868G						scavenged	.						125	135	132					1																	12907275		2203	4299	6502	SO:0001583	missense	343069	exon2			CATCCTGGCCATT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.868C>G	1.37:g.12907275G>C	ENSP00000365370:p.Gln290Glu	Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	313	4	0.0127796	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.135616	0.00001	.	.	ENSG00000179172	ENST00000317869	T	0.07216	3.21	1.09	-2.18	0.07037	.	0.420350	0.20880	N	0.084017	T	0.01353	0.0044	N	0.00583	-1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	.	2.6632	0.05032	0.0:0.3331:0.2756:0.3913	.	290	O60812	HNRCL_HUMAN	E	290	ENSP00000365370:Q290E	ENSP00000365370:Q290E	Q	-	1	0	HNRNPCL1	12829862	0.994000	0.37717	0.016000	0.15963	0.063000	0.16089	-0.019000	0.12546	-1.068000	0.03156	-0.786000	0.03341	CAG	.	.	none		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907275	G	C	12907275	3	2	1	1	0	0	0	0	1	0	0	0	7263	1357	47	4	15	4	HNRNPCL1	1	12907275	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	51523	12907275	236343346	6	6										
ZBTB17	7709	hgsc.bcm.edu	37	chr1	16272337	16272337	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttctctgtctgctctgcaccTgggtgggggaagcaccggag	15	11	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:16272337T>A	ENST00000375743.4	-	6	768		c.e6-2		ZBTB17_ENST00000448462.2_Splice_Site|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Splice_Site|ZBTB17_ENST00000537142.1_Splice_Site	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCACCTGGGTGGGGGA	0.672																																					.		Atlas-SNP	.											.	ZBTB17	45	.	0			c.536-2A>T						PASS	.						41	48	46					1																	16272337		2203	4300	6503	SO:0001630	splice_region_variant	7709	exon7			TGCACCTGGGTGG	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.536-2A>T	1.37:g.16272337T>A		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	16	5	0.3125	NM_003443	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Splice_Site	SNP	ENST00000375743.4	37	CCDS165.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340713	0.41498	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000537142;ENST00000448462	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.584	0.33646	0.0:0.0:0.1946:0.8054	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB17	16144924	1.000000	0.71417	0.910000	0.35882	0.676000	0.39594	3.477000	0.53151	1.918000	0.55548	0.379000	0.24179	.	.	.	none		0.672	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443	Intron	A	16272337	T	A	16272337	5	1	1	1	0	0	0	0	0	0	1	0	17524	1594	55	5	1921	5	ZBTB17	1	16272337	Splice_Site	SNP	T	TCGA-FA-8693-01A-11D-2397-10	3365062	16272337	232978284	7	7										
FAM131C	348487	hgsc.bcm.edu	37	chr1	16385042	16385042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttgggccccgggcagccgccGccgatgctgcagctctgggc	16	16	1	0	rs77667563	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:16385042G>A	ENST00000375662.4	-	7	916	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	245	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCCGCCGCCGATGCTGC	0.741																																					p.R245W		Atlas-SNP	.											FAM131C,NS,other,0,1	FAM131C	21	1	0			c.C733T						scavenged	.						2	2	2					1																	16385042		1409	3130	4539	SO:0001583	missense	348487	exon7			GCCGCCGCCGATG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.733C>T	1.37:g.16385042G>A	ENSP00000364814:p.Arg245Trp	Somatic	3	1	0.333333		WXS	Illumina HiSeq	Phase_I	5	2	0.4	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	773	0.35393772893772896	210	0.4268292682926829	106	0.292817679558011	224	0.3916083916083916	233	0.3073878627968338	G	11.88	1.771185	0.31320	.	.	ENSG00000185519	ENST00000375662	T	0.15487	2.42	4.8	-0.971	0.10303	.	2.839240	0.01092	N	0.005214	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.65815	0.995	P	0.46825	0.528	T	0.32428	-0.9907	9	0.54805	T	0.06	-7.4813	4.4045	0.11402	0.1749:0.0:0.3887:0.4365	.	245	Q96AQ9	F131C_HUMAN	W	245	ENSP00000364814:R245W	ENSP00000364814:R245W	R	-	1	2	FAM131C	16257629	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.080000	0.11339	-0.172000	0.10779	0.549000	0.68633	CGG	G|0.646;A|0.354	0.354	strong		0.741	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16385042	G	A	16385042	3	1	1	1	0	0	0	0	1	0	0	0	5441	1086	38	1	113	1	FAM131C	1	16385042	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	112705	16385042	232865579	8	8										
EIF2C4	192670	hgsc.bcm.edu	37	chr1	36307020	36307020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcagttctacaaatccacacGcttcaaacccactcggatca	4	15	4	0	rs146736735		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:36307020G>T	ENST00000373210.3	+	14	2224	c.1979G>T	c.(1978-1980)cGc>cTc	p.R660L		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	660	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AAATCCACACGCTTCAAACCC	0.517																																					p.R660L		Atlas-SNP	.											EIF2C4,NS,carcinoma,+1,1	.	.	1	0			c.G1979T						scavenged	.						77	75	76					1																	36307020		2203	4300	6503	SO:0001583	missense	192670	exon14			CCACACGCTTCAA	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1979G>T	1.37:g.36307020G>T	ENSP00000362306:p.Arg660Leu	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	281	5	0.0177936	NM_017629	A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047883	0.93740	.	.	ENSG00000134698	ENST00000373210	T	0.32023	1.47	6.01	6.01	0.97437	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.90019	3.08	0.80722	D	1	P	0.42908	0.793	P	0.47376	0.545	T	0.60682	-0.7215	10	0.52906	T	0.07	-11.5748	20.5211	0.99222	0.0:0.0:1.0:0.0	.	660	Q9HCK5	AGO4_HUMAN	L	660	ENSP00000362306:R660L	ENSP00000362306:R660L	R	+	2	0	EIF2C4	36079607	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.737000	0.98831	2.861000	0.98227	0.650000	0.86243	CGC	G|1.000;A|0.000	.	alt		0.517	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		T	36307020	G	T	36307020	3	4	1	1	0	0	0	0	1	0	0	0	5008	1087	38	4	2033	4	EIF2C4	1	36307020	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	19921978	36307020	212943601	9	9										
GNL2	29889	hgsc.bcm.edu	37	chr1	38032563	38032563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gttgtgtgtttcatagtagcGcacaccaacttttttcggcc	9	10	1	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:38032563G>A	ENST00000373062.3	-	16	2187	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	697					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCATAGTAGCGCACACCAACT	0.403																																					p.R697C		Atlas-SNP	.											.	GNL2	58	.	0			c.C2089T						PASS	.						188	170	176					1																	38032563		2203	4300	6503	SO:0001583	missense	29889	exon16			AGTAGCGCACACC	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2089C>T	1.37:g.38032563G>A	ENSP00000362153:p.Arg697Cys	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	133	27	0.203008	NM_013285	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000134697	ENST00000373062	T	0.25579	1.79	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52503	-0.8567	10	0.72032	D	0.01	-9.6294	19.4985	0.95083	0.0:0.0:1.0:0.0	.	697	Q13823	NOG2_HUMAN	C	697	ENSP00000362153:R697C	ENSP00000362153:R697C	R	-	1	0	GNL2	37805150	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.721000	0.84768	2.698000	0.92095	0.561000	0.74099	CGC	.	.	none		0.403	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		A	38032563	G	A	38032563	3	1	1	1	0	0	0	0	1	0	0	0	6536	1087	38	1	110	1	GNL2	1	38032563	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1725543	38032563	211218058	10	10										
FGGY	55277	hgsc.bcm.edu	37	chr1	60223665	60223665	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccgagactacaggataaaaaGtaagtgtgtattttttatat	8	4	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:60223665G>T	ENST00000303721.7	+	15	1748		c.e15+1		FGGY_ENST00000371210.1_Splice_Site|FGGY_ENST00000371218.4_Splice_Site|FGGY_ENST00000371212.1_Splice_Site|RP4-782L23.2_ENST00000443012.1_RNA	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGATAAAAAGTAAGTGTGTA	0.378																																					.		Atlas-SNP	.											.	FGGY	99	.	0			c.1646+1G>T						PASS	.						95	91	92					1																	60223665		2203	4300	6503	SO:0001630	splice_region_variant	55277	exon16			TAAAAAGTAAGTG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1574+1G>T	1.37:g.60223665G>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	73	9	0.123288	NM_001113411	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Splice_Site	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665493	0.29604	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3446	0.74327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGGY	59996253	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.100000	0.64560	2.646000	0.89796	0.563000	0.77884	.	.	.	none		0.378	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	Intron	T	60223665	G	T	60223665	5	4	1	1	0	0	0	0	0	0	1	0	5871	1043	36	4	1705	4	FGGY	1	60223665	Splice_Site	SNP	G	TCGA-FA-8693-01A-11D-2397-10	22191102	60223665	189026956	11	11										
C1orf87	127795	hgsc.bcm.edu	37	chr1	60491072	60491072	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcttaataagagttgacttaCtttatttcattttggtaacc	5	6	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:60491072C>G	ENST00000371201.3	-	8	1235		c.e8+1		C1orf87_ENST00000450089.2_Splice_Site	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTGACTTACTTTATTTCAT	0.388																																					.	NSCLC(75;811 1386 4923 13371 51772)	Atlas-SNP	.											.	C1orf87	55	.	0			c.1127+1G>C						PASS	.						120	121	121					1																	60491072		2203	4300	6503	SO:0001630	splice_region_variant	127795	exon9			GACTTACTTTATT	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1127+1G>C	1.37:g.60491072C>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	79	20	0.253165	NM_152377	Q6ZU07|Q8IVS0	Splice_Site	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060848	0.55432	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.851	0.63496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf87	60263660	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.775000	0.55349	2.648000	0.89879	0.555000	0.69702	.	.	.	none		0.388	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	Intron	G	60491072	C	G	60491072	5	3	1	1	0	0	0	0	0	0	1	0	2064	579	20	4	532	4	C1orf87	1	60491072	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	267407	60491072	188759549	12	12										
PGM1	5236	hgsc.bcm.edu	37	chr1	64104389	64104389	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acaaagattgctttgtatgaGaccccaactggctggaagtt	10	8	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:64104389G>A	ENST00000371084.3	+	7	1275	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	PGM1_ENST00000371083.4_Silent_p.E372E|PGM1_ENST00000540265.1_Silent_p.E157E	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	354					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGTATGAGACCCCAACTG	0.502																																					p.E372E		Atlas-SNP	.											.	PGM1	75	.	0			c.G1116A						PASS	.						179	169	172					1																	64104389		2203	4300	6503	SO:0001819	synonymous_variant	5236	exon7			GTATGAGACCCCA	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1062G>A	1.37:g.64104389G>A		Somatic	368	0	0		WXS	Illumina HiSeq	Phase_I	302	18	0.0596026	NM_001172818	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	CCDS625.1																																																																																			.	.	none		0.502	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		A	64104389	G	A	64104389	2	1	1	1	0	0	0	0	0	0	0	1	11797	933	33	2		2	PGM1	1	64104389	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3613317	64104389	185146232	13	13										
CRYZ	1429	hgsc.bcm.edu	37	chr1	75184932	75184932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aagcagtaaaatatggaatgCcgatggcagctccttgttta	10	7	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:75184932C>T	ENST00000340866.5	-	4	476	c.389G>A	c.(388-390)gGc>gAc	p.G130D	CRYZ_ENST00000417775.1_Missense_Mutation_p.G130D|CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000370871.3_Missense_Mutation_p.G130D	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	130					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	ATATGGAATGCCGATGGCAGC	0.438																																					p.G130D		Atlas-SNP	.											CRYZ,colon,carcinoma,-1,1	CRYZ	28	1	0			c.G389A						scavenged	.						150	140	143					1																	75184932		2203	4300	6503	SO:0001583	missense	1429	exon4			GGAATGCCGATGG		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.389G>A	1.37:g.75184932C>T	ENSP00000339399:p.Gly130Asp	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	231	4	0.017316	NM_001130043	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457699	0.26161	.	.	ENSG00000116791	ENST00000340866;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.16	4.22	0.49857	GroES-like (1);	0.207171	0.49916	D	0.000128	T	0.62073	0.2398	M	0.87038	2.855	0.48632	D	0.999688	D;D	0.76494	0.999;0.976	D;P	0.74023	0.982;0.85	T	0.69566	-0.5111	10	0.72032	D	0.01	.	10.578	0.45238	0.1498:0.7057:0.1444:0.0	.	130;130	A6NN60;Q08257	.;QOR_HUMAN	D	130	ENSP00000339399:G130D;ENSP00000399805:G130D;ENSP00000359908:G130D;ENSP00000359907:G130D;ENSP00000404289:G130D	ENSP00000339399:G130D	G	-	2	0	CRYZ	74957520	0.985000	0.35326	0.699000	0.30290	0.029000	0.11900	3.243000	0.51392	1.265000	0.44215	0.460000	0.39030	GGC	.	.	none		0.438	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			T	75184932	C	T	75184932	3	4	1	1	0	0	0	0	1	0	0	0	3922	739	26	2	624	2	CRYZ	1	75184932	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	11080543	75184932	174065689	14	14										
CLCA2	9635	hgsc.bcm.edu	37	chr1	86920904	86920904	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atatttacgttctcaccccaAatttccacgaatggacctga	5	12	1	1	rs2390057	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:86920904A>G	ENST00000370565.4	+	14	2688	c.2526A>G	c.(2524-2526)caA>caG	p.Q842Q		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	842					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.Q842Q(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTCACCCCAAATTTCCACGA	0.393													A|||	1647	0.328874	0.2057	0.2435	5008	,	,		17291	0.4405		0.335	False		,,,				2504	0.4346				p.Q842Q	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Atlas-SNP	.											CLCA2,NS,carcinoma,0,1	CLCA2	102	1	1	Substitution - coding silent(1)	stomach(1)	c.A2526G						scavenged	.	A		1085,3321	393.5+/-328.9	142,801,1260	110	104	106		2526	-1.1	0	1	dbSNP_100	106	2876,5724	451.3+/-362.6	470,1936,1894	no	coding-synonymous	CLCA2	NM_006536.5		612,2737,3154	GG,GA,AA		33.4419,24.6255,30.4552		842/944	86920904	3961,9045	2203	4300	6503	SO:0001819	synonymous_variant	9635	exon14			ACCCCAAATTTCC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2526A>G	1.37:g.86920904A>G		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	126	2	0.015873	NM_006536	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	CCDS708.1																																																																																			A|0.686;G|0.314	0.314	strong		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		G	86920904	A	G	86920904	2	3	1	1	0	0	0	0	0	0	0	1	3458	11	1	2		2	CLCA2	1	86920904	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	11735972	86920904	162329717	15	15										
GBP3	2635	hgsc.bcm.edu	37	chr1	89476646	89476646	+	Missense_Mutation	SNP	T	T	C													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caggtcttgtagcttctgaaTaaagagacaatagccccctg							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:89476646T>C	ENST00000370481.4	-	8	1523	c.1303A>G	c.(1303-1305)Att>Gtt	p.I435V		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGCTTCTGAATAAAGAGACAA	0.433																																					p.I435V		Atlas-SNP	.											.	GBP3	53	.	0			c.A1303G						PASS	.						203	170	182					1																	89476646		2191	3984	6175	SO:0001583	missense	2635	exon8			TCTGAATAAAGAG	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1303A>G	1.37:g.89476646T>C	ENSP00000359512:p.Ile435Val	Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	341	73	0.214076	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	7.103	0.574507	0.13623	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.01887	4.58	3.57	-1.8	0.07907	Guanylate-binding protein, C-terminal (3);	1.033460	0.07626	N	0.927902	T	0.00412	0.0013	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.006	T	0.47235	-0.9133	10	0.20519	T	0.43	.	0.9257	0.01324	0.1662:0.3148:0.1708:0.3482	.	301;435	F6X827;Q9H0R5	.;GBP3_HUMAN	V	403;435;435	ENSP00000359512:I435V	ENSP00000235878:I435V	I	-	1	0	GBP3	89249234	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-2.842000	0.00737	-0.211000	0.10124	0.491000	0.48974	ATT	.	.	none		0.433	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		C	89476646	T	C	89476646	3	2	1	1	0	0	0	0	1	0	0	0	6275	1406	49	2	500	2	GBP3	1	89476646	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	2555742	89476646	159773975	16	16	1	2								
GBP3	2635	hgsc.bcm.edu	37	chr1	89476655	89476655	+	Missense_Mutation	SNP	A	A	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tagcttctgaataaagagacAatagccccctggtttcgaat							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:89476655A>G	ENST00000370481.4	-	8	1514	c.1294T>C	c.(1294-1296)Tgt>Cgt	p.C432R		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAAAGAGACAATAGCCCCCT	0.423																																					p.C432R		Atlas-SNP	.											.	GBP3	53	.	0			c.T1294C						PASS	.						202	169	181					1																	89476655		2191	3988	6179	SO:0001583	missense	2635	exon8			AGAGACAATAGCC	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1294T>C	1.37:g.89476655A>G	ENSP00000359512:p.Cys432Arg	Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	333	64	0.192192	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185169	0.00305	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.01821	4.62	3.79	-1.98	0.07480	Guanylate-binding protein, C-terminal (3);	0.843353	0.10841	N	0.628203	T	0.00109	0.0003	N	0.00258	-1.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31223	-0.9951	10	0.02654	T	1	.	5.3138	0.15845	0.2643:0.0:0.5065:0.2292	.	298;432	F6X827;Q9H0R5	.;GBP3_HUMAN	R	400;432;432	ENSP00000359512:C432R	ENSP00000235878:C432R	C	-	1	0	GBP3	89249243	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.521000	0.02239	-0.900000	0.03896	-2.405000	0.00223	TGT	.	.	none		0.423	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		G	89476655	A	G	89476655	3	3	1	1	0	0	0	0	1	0	0	0	6275	130	5	2	509	2	GBP3	1	89476655	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	9	89476655	159773966	17	17	1	2								
ARHGAP29	9411	hgsc.bcm.edu	37	chr1	94670633	94670633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcacccaagttaagctttttTtcaacccatgaaactatgtt	4	10	2	1	rs201001778		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:94670633T>G	ENST00000260526.6	-	7	863	c.681A>C	c.(679-681)gaA>gaC	p.E227D	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E227D	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	227					positive regulation of Rho GTPase activity (GO:0032321)|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)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAAGCTTTTTTTCAACCCATG	0.318																																					p.E227D		Atlas-SNP	.											.	ARHGAP29	132	.	0			c.A681C						PASS	.						83	84	83					1																	94670633		2202	4298	6500	SO:0001583	missense	9411	exon7			CTTTTTTTCAACC		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.681A>C	1.37:g.94670633T>G	ENSP00000260526:p.Glu227Asp	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	140	18	0.128571	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766355	0.69878	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.46451	0.87;0.87	5.87	2.48	0.30137	.	0.000000	0.37053	N	0.002263	T	0.25531	0.0621	L	0.53671	1.685	0.45066	D	0.998081	P;P	0.46784	0.884;0.849	P;B	0.45610	0.487;0.318	T	0.02975	-1.1087	10	0.45353	T	0.12	-29.8012	8.1775	0.31292	0.0:0.3743:0.0:0.6257	.	227;227	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	D	227	ENSP00000260526:E227D;ENSP00000359237:E227D	ENSP00000260526:E227D	E	-	3	2	ARHGAP29	94443221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.684000	0.25364	0.603000	0.29913	0.533000	0.62120	GAA	T|1.000;C|0.000	.	alt		0.318	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		G	94670633	T	G	94670633	3	3	1	1	0	0	0	0	1	0	0	0	878	1838	64	5	3172	5	ARHGAP29	1	94670633	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5193978	94670633	154579988	18	18										
CEPT1	10390	hgsc.bcm.edu	37	chr1	111724864	111724864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcactttgtactgtagcagGgaccatattttcctgtacaa	8	9	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:111724864G>A	ENST00000545121.1	+	6	978	c.770G>A	c.(769-771)gGg>gAg	p.G257E	CEPT1_ENST00000357172.4_Missense_Mutation_p.G257E|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	257					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACTGTAGCAGGGACCATATTT	0.333																																					p.G257E		Atlas-SNP	.											.	CEPT1	25	.	0			c.G770A						PASS	.						84	80	82					1																	111724864		2203	4300	6503	SO:0001583	missense	10390	exon6			TAGCAGGGACCAT	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.770G>A	1.37:g.111724864G>A	ENSP00000441980:p.Gly257Glu	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	137	36	0.262774	NM_006090	Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039564	0.93630	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.51325	0.71;0.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63139	-0.6704	10	0.30854	T	0.27	-5.595	18.3537	0.90348	0.0:0.0:1.0:0.0	.	257	Q9Y6K0	CEPT1_HUMAN	E	257	ENSP00000441980:G257E;ENSP00000349696:G257E	ENSP00000349696:G257E	G	+	2	0	CEPT1	111526387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.937000	0.99478	0.650000	0.86243	GGG	.	.	none		0.333	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		A	111724864	G	A	111724864	3	1	1	1	0	0	0	0	1	0	0	0	3264	1232	43	2	788	2	CEPT1	1	111724864	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	17054231	111724864	137525757	19	19										
ST7L	54879	hgsc.bcm.edu	37	chr1	113153627	113153627	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agtaccaccattcaaatatcTatgacaaacagaaaatatcc	3	10	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:113153627T>C	ENST00000358039.4	-	3	593		c.e3-2		ST7L_ENST00000369666.1_Splice_Site|ST7L_ENST00000490067.1_Splice_Site|ST7L_ENST00000360743.4_Splice_Site|ST7L_ENST00000463235.1_Splice_Site|ST7L_ENST00000369668.2_Splice_Site|ST7L_ENST00000544629.1_Splice_Site|ST7L_ENST00000543570.1_Splice_Site|ST7L_ENST00000343210.7_Splice_Site|ST7L_ENST00000538187.1_Splice_Site|ST7L_ENST00000369669.1_Splice_Site	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like						negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAAATATCTATGACAAACA	0.383																																					.		Atlas-SNP	.											.	ST7L	31	.	0			c.289-2A>G						PASS	.						93	88	90					1																	113153627		2203	4300	6503	SO:0001630	splice_region_variant	54879	exon4			AATATCTATGACA	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.289-2A>G	1.37:g.113153627T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	92	20	0.217391	NM_138728	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Splice_Site	SNP	ENST00000358039.4	37	CCDS848.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746023	0.69418	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000544629;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369664	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3058	0.73990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST7L	112955150	1.000000	0.71417	0.970000	0.41538	0.839000	0.47603	7.606000	0.82863	2.254000	0.74563	0.482000	0.46254	.	.	.	none		0.383	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3		Intron	C	113153627	T	C	113153627	5	2	1	1	0	0	0	0	0	0	1	0	15229	1536	53	3	1531	3	ST7L	1	113153627	Splice_Site	SNP	T	TCGA-FA-8693-01A-11D-2397-10	1428763	113153627	136096994	20	20										
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		Atlas-SNP	.											RSBN1,colon,carcinoma,0,2	RSBN1	71	2	0			c.A381G						PASS	.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_018364	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139	0.139	strong		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	1	1	0	0	0	0	0	0	0	1	13696	1799	63	2		2	RSBN1	1	114354654	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	1201027	114354654	134895967	21	21										
HIPK1	204851	hgsc.bcm.edu	37	chr1	114495495	114495495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atggcctctttatcctggtgCttcagaatatgatcaggtaa	9	8	3	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:114495495C>G	ENST00000369558.1	+	3	1416	c.1184C>G	c.(1183-1185)gCt>gGt	p.A395G	HIPK1_ENST00000426820.2_Missense_Mutation_p.A395G|HIPK1_ENST00000369559.4_Missense_Mutation_p.A395G|HIPK1_ENST00000369553.1_5'Flank|HIPK1_ENST00000340480.4_Missense_Mutation_p.A21G|HIPK1_ENST00000369555.2_Missense_Mutation_p.A395G|HIPK1_ENST00000369554.2_Missense_Mutation_p.A395G|HIPK1_ENST00000369561.4_Missense_Mutation_p.A395G|HIPK1_ENST00000406344.1_5'Flank			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCCTGGTGCTTCAGAATAT	0.373																																					p.A395G		Atlas-SNP	.											.	HIPK1	195	.	0			c.C1184G						PASS	.						178	164	169					1																	114495495		2203	4300	6503	SO:0001583	missense	204851	exon3			CTGGTGCTTCAGA	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1184C>G	1.37:g.114495495C>G	ENSP00000358571:p.Ala395Gly	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	144	27	0.1875	NM_198268	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145198	0.94603	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480	T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.36	5.36	0.76844	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	0.000003	T	0.60431	0.2268	N	0.17800	0.525	0.80722	D	1	D;D	0.57571	0.98;0.975	D;P	0.63488	0.915;0.904	T	0.67348	-0.5693	10	0.66056	D	0.02	.	19.0806	0.93180	0.0:1.0:0.0:0.0	.	395;395	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	G	466;395;395;395;395;395;395;21	ENSP00000407442:A466G;ENSP00000358572:A395G;ENSP00000409673:A395G;ENSP00000358567:A395G;ENSP00000358568:A395G;ENSP00000358571:A395G;ENSP00000358574:A395G;ENSP00000340956:A21G	ENSP00000340956:A21G	A	+	2	0	HIPK1	114297018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.509000	0.84616	0.650000	0.86243	GCT	.	.	none		0.373	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		G	114495495	C	G	114495495	3	3	1	1	0	0	0	0	1	0	0	0	7116	797	28	4	1190	4	HIPK1	1	114495495	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	140841	114495495	134755126	22	22										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117122285	117122285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gttgggtcgtcgtcgtcgtcGtcgtcctcctcctcctcctc	10	17	0	0	rs576658823|rs114915440	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:117122285G>C	ENST00000369486.3	-	10	3828	c.3063C>G	c.(3061-3063)gaC>gaG	p.D1021E	IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1021	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1041D(1)|p.D1021D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcgtcgtcctcct	0.632																																					p.D1041E		Atlas-SNP	.											IGSF3_ENST00000369483,NS,carcinoma,0,4	IGSF3	294	4	2	Substitution - coding silent(2)	prostate(2)	c.C3123G						scavenged	.						28	28	28					1																	117122285		2203	4300	6503	SO:0001583	missense	3321	exon11			GTCGTCGTCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3063C>G	1.37:g.117122285G>C	ENSP00000358498:p.Asp1021Glu	Somatic	104	3	0.0288462		WXS	Illumina HiSeq	Phase_I	117	8	0.0683761	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.470330	0.00011	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02890	4.12;4.12;4.12	0.329	0.329	0.15924	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.329841	0.23883	N	0.043632	T	0.00468	0.0015	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46925	-0.9156	8	0.02654	T	1	-2.9576	.	.	.	.	1021;1041	O75054;A6NJZ6	IGSF3_HUMAN;.	E	1021;1041;1041	ENSP00000358498:D1021E;ENSP00000358495:D1041E;ENSP00000321184:D1041E	ENSP00000321184:D1041E	D	-	3	2	IGSF3	116923808	0.026000	0.19158	0.036000	0.18154	0.121000	0.20230	-1.340000	0.02650	-0.471000	0.06891	-0.473000	0.04963	GAC	.	.	weak		0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		C	117122285	G	C	117122285	3	2	1	1	0	0	0	0	1	0	0	0	7601	1136	40	4	529	4	IGSF3	1	117122285	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2626790	117122285	132128336	23	23										
FLG	2312	hgsc.bcm.edu	37	chr1	152280900	152280900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gacctatctaccgattgctcTtggtgggacccctgtcttcc	9	14	3	0	rs74129452	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:152280900T>G	ENST00000368799.1	-	3	6497	c.6462A>C	c.(6460-6462)caA>caC	p.Q2154H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2154	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCTTGGTGGGACC	0.592									Ichthyosis				-|||	1722	0.34385	0.3843	0.3487	5008	,	,		25148	0.4444		0.1541	False		,,,				2504	0.3773				p.Q2154H		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,-2,1	FLG	900	1	0			c.A6462C						scavenged	.						380	322	342					1																	152280900		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGCTCTTGGTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6462A>C	1.37:g.152280900T>G	ENSP00000357789:p.Gln2154His	Somatic	377	1	0.00265252		WXS	Illumina HiSeq	Phase_I	477	6	0.0125786	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.361	-0.346581	0.05208	.	.	ENSG00000143631	ENST00000368799	T	0.03524	3.9	2.59	-5.18	0.02840	.	.	.	.	.	T	0.00178	0.0005	N	0.00074	-2.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49943	-0.8885	9	0.38643	T	0.18	.	0.1659	0.00108	0.2732:0.2266:0.1592:0.341	.	2154	P20930	FILA_HUMAN	H	2154	ENSP00000357789:Q2154H	ENSP00000357789:Q2154H	Q	-	3	2	FLG	150547524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.334000	0.00508	-3.813000	0.00104	-2.053000	0.00404	CAA	T|0.872;G|0.128	0.128	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280900	T	G	152280900	3	3	1	1	0	0	0	0	1	0	0	0	5922	1606	56	5	5727	5	FLG	1	152280900	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	35158615	152280900	96969721	24	24										
FLG2	388698	hgsc.bcm.edu	37	chr1	152328295	152328295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgagcctgatccatattggCcaaagccagtggattgactt	10	10	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:152328295C>G	ENST00000388718.5	-	3	2039	c.1967G>C	c.(1966-1968)gGc>gCc	p.G656A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	656	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATATTGGCCAAAGCCAGT	0.498																																					p.G656A		Atlas-SNP	.											.	FLG2	431	.	0			c.G1967C						PASS	.						213	228	223					1																	152328295		2203	4300	6503	SO:0001583	missense	388698	exon3			TATTGGCCAAAGC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1967G>C	1.37:g.152328295C>G	ENSP00000373370:p.Gly656Ala	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	185	10	0.0540541	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	10.12	1.261737	0.23051	.	.	ENSG00000143520	ENST00000388718	T	0.17213	2.29	4.55	3.56	0.40772	.	.	.	.	.	T	0.11281	0.0275	M	0.73962	2.25	0.09310	N	1	D	0.56968	0.978	P	0.52856	0.711	T	0.17258	-1.0375	9	0.08599	T	0.76	-1.6533	4.9448	0.13984	0.2112:0.6799:0.0:0.109	.	656	Q5D862	FILA2_HUMAN	A	656	ENSP00000373370:G656A	ENSP00000373370:G656A	G	-	2	0	FLG2	150594919	0.004000	0.15560	0.014000	0.15608	0.046000	0.14306	1.621000	0.36986	2.083000	0.62718	0.561000	0.74099	GGC	.	.	none		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152328295	C	G	152328295	3	3	1	1	0	0	0	0	1	0	0	0	5923	739	26	4	5212	4	FLG2	1	152328295	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	47395	152328295	96922326	25	25										
IVL	3713	hgsc.bcm.edu	37	chr1	152883856	152883856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acatctggagcagcaggaggGgcagctgaaggacctggagc	17	9	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:152883856G>A	ENST00000368764.3	+	2	1647	c.1583G>A	c.(1582-1584)gGg>gAg	p.G528E	IVL_ENST00000392667.2_Missense_Mutation_p.G382E			P07476	INVO_HUMAN	involucrin	528	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggaggggcagctgaag	0.597																																					p.G528E		Atlas-SNP	.											.	IVL	100	.	0			c.G1583A						PASS	.						70	66	67					1																	152883856		2203	4300	6503	SO:0001583	missense	3713	exon2			AGGAGGGGCAGCT	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1583G>A	1.37:g.152883856G>A	ENSP00000357753:p.Gly528Glu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	96	21	0.21875	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070892	0.36566	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.47177	1.77;0.85	3.34	-1.01	0.10169	.	.	.	.	.	T	0.07234	0.0183	N	0.21545	0.675	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.34403	-0.9830	9	0.02654	T	1	.	3.2393	0.06776	0.3377:0.0:0.447:0.2153	.	528	P07476	INVO_HUMAN	E	528;382	ENSP00000357753:G528E;ENSP00000376435:G382E	ENSP00000357753:G528E	G	+	2	0	IVL	151150480	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.649000	0.05384	-0.022000	0.13986	-0.274000	0.10170	GGG	.	.	none		0.597	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		A	152883856	G	A	152883856	3	1	1	1	0	0	0	0	1	0	0	0	7929	1232	43	2	1585	2	IVL	1	152883856	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	555561	152883856	96366765	26	26										
MPZL1	9019	hgsc.bcm.edu	37	chr1	167741720	167741720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cattaggctctatgtcgtagAaaaaggtacttccttgagta	9	7	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:167741720A>G	ENST00000359523.2	+	3	669	c.467A>G	c.(466-468)gAa>gGa	p.E156G	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.E156G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	156					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TATGTCGTAGAAAAAGGTACT	0.408																																					p.E156G		Atlas-SNP	.											.	MPZL1	25	.	0			c.A467G						PASS	.						83	74	77					1																	167741720		2203	4300	6503	SO:0001583	missense	9019	exon3			TCGTAGAAAAAGG	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.467A>G	1.37:g.167741720A>G	ENSP00000352513:p.Glu156Gly	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	186	30	0.16129	NM_024569	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848702	0.71603	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	D;D;D	0.97850	-4.15;-4.57;-4.55	4.81	4.81	0.61882	.	0.224105	0.45867	D	0.000339	D	0.95236	0.8455	L	0.32530	0.975	0.35992	D	0.836794	D;P	0.53462	0.96;0.651	P;B	0.51229	0.663;0.273	D	0.94779	0.7952	9	0.34782	T	0.22	.	15.0743	0.72066	1.0:0.0:0.0:0.0	.	156;156	O95297-3;O95297	.;MPZL1_HUMAN	G	156;156;130	ENSP00000352513:E156G;ENSP00000420455:E156G;ENSP00000356827:E130G	ENSP00000352513:E156G	E	+	2	0	MPZL1	166008344	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	2.674000	0.46867	2.116000	0.64780	0.455000	0.32223	GAA	.	.	none		0.408	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		G	167741720	A	G	167741720	3	3	1	1	0	0	0	0	1	0	0	0	9749	246	9	2	477	2	MPZL1	1	167741720	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	14857864	167741720	81508901	27	27										
PRG4	10216	hgsc.bcm.edu	37	chr1	186276291	186276291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cctgcacccaccactcccaaAgagcctgcacccactgcccc	5	23	0	1	rs151267614	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:186276291A>G	ENST00000445192.2	+	7	1485	c.1440A>G	c.(1438-1440)aaA>aaG	p.K480K	PRG4_ENST00000367485.4_Silent_p.K387K|PRG4_ENST00000367483.4_Silent_p.K439K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K437K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	480	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.K480K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAAGAGCCTGCAC	0.662													-|||	610	0.121805	0.1051	0.072	5008	,	,		8182	0.1319		0.1541	False		,,,				2504	0.136				p.K480K		Atlas-SNP	.											PRG4,NS,carcinoma,0,1	PRG4	259	1	1	Substitution - coding silent(1)	prostate(1)	c.A1440G						scavenged	.						89	94	92					1																	186276291		2198	4275	6473	SO:0001819	synonymous_variant	10216	exon7			TCCCAAAGAGCCT	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1440A>G	1.37:g.186276291A>G		Somatic	46	7	0.152174		WXS	Illumina HiSeq	Phase_I	45	15	0.333333	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																			A|0.906;G|0.094	0.094	strong		0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186276291	A	G	186276291	2	3	1	1	0	0	0	0	0	0	0	1	12481	69	3	3		3	PRG4	1	186276291	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	18534571	186276291	62974330	28	28										
ASPM	259266	hgsc.bcm.edu	37	chr1	197070009	197070009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	accactcttgaatcataacaCcttcactttgaacagcttca	3	13	4	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:197070009C>A	ENST00000367409.4	-	18	8628	c.8372G>T	c.(8371-8373)gGt>gTt	p.G2791V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2791					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCATAACACCTTCACTTTG	0.393																																					p.G2791V		Atlas-SNP	.											ASPM,right_upper_lobe,carcinoma,0,1	ASPM	444	1	0			c.G8372T						PASS	.						133	133	133					1																	197070009		2203	4300	6503	SO:0001583	missense	259266	exon18			ATAACACCTTCAC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8372G>T	1.37:g.197070009C>A	ENSP00000356379:p.Gly2791Val	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	157	33	0.210191	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.280914	0.23392	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.56611	0.45	4.66	-1.47	0.08772	.	1.296170	0.05105	N	0.487807	T	0.55689	0.1936	L	0.36672	1.1	0.09310	N	1	D;B	0.89917	1.0;0.112	D;B	0.87578	0.998;0.057	T	0.46034	-0.9220	10	0.23891	T	0.37	.	2.4063	0.04414	0.1324:0.1431:0.3433:0.3813	.	777;2791	E7EQ84;Q8IZT6	.;ASPM_HUMAN	V	2791;777	ENSP00000356379:G2791V	ENSP00000356376:G777V	G	-	2	0	ASPM	195336632	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.619000	0.24388	-0.532000	0.06332	-0.379000	0.06801	GGT	.	.	none		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197070009	C	A	197070009	3	1	1	1	0	0	0	0	1	0	0	0	1056	507	18	4	2105	4	ASPM	1	197070009	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	10793718	197070009	52180612	29	29										
NFASC	23114	hgsc.bcm.edu	37	chr1	204943936	204943936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcaaagctgaaaaccaagtcCgcctggaggtcaaaggtaaa	11	9	1	1	rs149731085		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:204943936C>T	ENST00000401399.1	+	13	1742	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	NFASC_ENST00000513543.1_Missense_Mutation_p.R526C|NFASC_ENST00000404076.1_Missense_Mutation_p.R509C|NFASC_ENST00000367171.4_Missense_Mutation_p.R515C|NFASC_ENST00000367172.4_Missense_Mutation_p.R515C|NFASC_ENST00000403080.1_Missense_Mutation_p.R515C|NFASC_ENST00000339876.6_Missense_Mutation_p.R515C|NFASC_ENST00000367170.4_Missense_Mutation_p.R515C|NFASC_ENST00000360049.4_Missense_Mutation_p.R526C|NFASC_ENST00000367169.4_Missense_Mutation_p.R515C|NFASC_ENST00000539706.1_Missense_Mutation_p.R526C|NFASC_ENST00000338586.6_Missense_Mutation_p.R515C|NFASC_ENST00000338515.6_Missense_Mutation_p.R515C|NFASC_ENST00000404907.1_Missense_Mutation_p.R526C			O94856	NFASC_HUMAN	neurofascin	515	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAACCAAGTCCGCCTGGAGGT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		21343	0.0		0.001	False		,,,				2504	0.0				p.R526C		Atlas-SNP	.											.	NFASC	396	.	0			c.C1576T						PASS	.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	99	92	95		1543,1543,1576,1576,1525,1576	5.8	1	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	180,180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	515/1241,515/620,526/1190,526/1175,509/614,526/1170	204943936	2,13004	2203	4300	6503	SO:0001583	missense	23114	exon14			CAAGTCCGCCTGG	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1543C>T	1.37:g.204943936C>T	ENSP00000385637:p.Arg515Cys	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	116	30	0.258621	NM_015090	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.399757	0.96030	0.0	2.33E-4	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.237674	0.29822	N	0.011105	T	0.80105	0.4562	L	0.61387	1.9	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.962;0.999;1.0;1.0;0.998;0.995	D;P;P;D;P;P;P	0.66497	0.943;0.501;0.905;0.944;0.648;0.814;0.804	T	0.78816	-0.2055	10	0.49607	T	0.09	.	19.7118	0.96099	0.0:1.0:0.0:0.0	.	515;526;526;515;515;526;515	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	C	515;515;515;515;515;515;526;526;526;515;515;509;515;526;526;502	ENSP00000356140:R515C;ENSP00000356139:R515C;ENSP00000356138:R515C;ENSP00000342128:R515C;ENSP00000344786:R515C;ENSP00000343509:R515C;ENSP00000438614:R526C;ENSP00000353154:R526C;ENSP00000356137:R515C;ENSP00000384875:R515C;ENSP00000385676:R509C;ENSP00000385637:R515C;ENSP00000384061:R526C;ENSP00000425908:R526C;ENSP00000415031:R502C	ENSP00000295776:R526C	R	+	1	0	NFASC	203210559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.975000	0.70475	2.764000	0.94973	0.485000	0.47835	CGC	C|1.000;T|0.000	0.000	strong		0.512	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204943936	C	T	204943936	3	4	1	1	0	0	0	0	1	0	0	0	10359	652	23	1	1644	1	NFASC	1	204943936	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	7873927	204943936	44306685	30	30										
PROX1	5629	hgsc.bcm.edu	37	chr1	214171399	214171399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tccggctccttctctggaaaAgacagagcctctcctgaatc	8	14	2	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:214171399A>C	ENST00000366958.4	+	2	2129	c.1521A>C	c.(1519-1521)aaA>aaC	p.K507N	PROX1_ENST00000261454.4_Missense_Mutation_p.K507N|PROX1_ENST00000498508.2_Missense_Mutation_p.K507N|PROX1_ENST00000435016.1_Missense_Mutation_p.K507N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	507					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTCTGGAAAAGACAGAGCCT	0.552																																					p.K507N		Atlas-SNP	.											.	PROX1	124	.	0			c.A1521C						PASS	.						78	85	82					1																	214171399		2203	4300	6503	SO:0001583	missense	5629	exon2			TGGAAAAGACAGA	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1521A>C	1.37:g.214171399A>C	ENSP00000355925:p.Lys507Asn	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	65	18	0.276923	NM_001270616	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.748020	0.30955	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48836	0.81;0.8;0.81;0.81	5.71	1.66	0.24008	.	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.62723	1.935	0.52501	D	0.999953	D	0.76494	0.999	D	0.85130	0.997	T	0.52223	-0.8604	10	0.22109	T	0.4	-5.3341	9.702	0.40192	0.6316:0.0:0.3684:0.0	.	507	Q92786	PROX1_HUMAN	N	79;507;507;507;507	ENSP00000420283:K507N;ENSP00000355925:K507N;ENSP00000400694:K507N;ENSP00000261454:K507N	ENSP00000261454:K507N	K	+	3	2	PROX1	212238022	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.513000	0.35823	0.026000	0.15269	0.533000	0.62120	AAA	.	.	none		0.552	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		C	214171399	A	C	214171399	3	2	1	1	0	0	0	0	1	0	0	0	12560	69	3	5	1523	5	PROX1	1	214171399	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	9227463	214171399	35079222	31	31										
USH2A	7399	hgsc.bcm.edu	37	chr1	216221971	216221971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgcatagtttttgaagggtAgcaagcctgtcaatatgcct	10	8	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:216221971A>G	ENST00000307340.3	-	31	6454	c.6068T>C	c.(6067-6069)cTa>cCa	p.L2023P	USH2A_ENST00000366943.2_Missense_Mutation_p.L2023P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2023	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGAAGGGTAGCAAGCCTGT	0.413										HNSCC(13;0.011)																											p.L2023P		Atlas-SNP	.											.	USH2A	1168	.	0			c.T6068C						PASS	.						161	158	159					1																	216221971		2203	4300	6503	SO:0001583	missense	7399	exon31			AAGGGTAGCAAGC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6068T>C	1.37:g.216221971A>G	ENSP00000305941:p.Leu2023Pro	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	175	50	0.285714	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644095	0.29246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	6.16	3.75	0.43078	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.558741	0.13626	N	0.374070	T	0.64000	0.2559	M	0.70275	2.135	0.34933	D	0.749578	D	0.53885	0.963	P	0.60541	0.876	T	0.65010	-0.6272	10	0.30854	T	0.27	.	6.883	0.24183	0.4969:0.1739:0.0:0.3292	.	2023	O75445	USH2A_HUMAN	P	2023	ENSP00000305941:L2023P;ENSP00000355910:L2023P	ENSP00000305941:L2023P	L	-	2	0	USH2A	214288594	0.218000	0.23608	0.304000	0.25085	0.998000	0.95712	0.502000	0.22594	0.491000	0.27793	0.528000	0.53228	CTA	.	.	none		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216221971	A	G	216221971	3	3	1	1	0	0	0	0	1	0	0	0	17033	420	15	3	9708	3	USH2A	1	216221971	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2050572	216221971	33028650	32	32										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226836447	226836447	+	Frame_Shift_Del	DEL	T	T	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agggagaccagtgcaccatgTtttttatcttcctccatgat							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:226836447delT	ENST00000272117.3	-	2	1957	c.1958delA	c.(1957-1959)aacfs	p.N653fs	ITPKB_ENST00000429204.1_Frame_Shift_Del_p.N653fs			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	653					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTGCACCATGTTTTTTATCTT	0.438																																					p.N653fs	Colon(84;110 1851 5306 33547)	Pindel,Atlas-Indel	.											.	ITPKB	158	.	0			c.1959delC						PASS	.						164	163	164					1																	226836447		2203	4300	6503	SO:0001589	frameshift_variant	3707	exon3			.	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1958delA	1.37:g.226836447delT	ENSP00000272117:p.Asn653fs	Somatic	171	.	.		WXS	Illumina HiSeq	Phase_I	169	32	0.189	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Frame_Shift_Del	DEL	ENST00000272117.3	37	CCDS1555.1																																																																																			.	.	none		0.438	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		-	226836447	T	-	226836447	7	5	1	1	0	1	0	1	0	0	0	0	7918	1725	60	0	906	0	ITPKB	1	226836447	Frame_Shift_Del	DEL	T	TCGA-FA-8693-01A-11D-2397-10	10614476	226836447	22414174	33	33										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228482059	228482059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcctggctgtggtggatgccGgggagtactcgtgtgtgtgc	19	8	0	0	rs56218706	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:228482059G>T	ENST00000422127.1	+	42	11382	c.11338G>T	c.(11338-11340)Ggg>Tgg	p.G3780W	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3780W|OBSCN_ENST00000366707.4_Missense_Mutation_p.G899W|OBSCN_ENST00000366709.4_Missense_Mutation_p.G899W|OBSCN_ENST00000570156.2_Missense_Mutation_p.G4209W|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2627W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3780	Ig-like 38.				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)				GGTGGATGCCGGGGAGTACTC	0.602																																					p.G4209W		Atlas-SNP	.											OBSCN_ENST00000570156,NS,carcinoma,-2,4	OBSCN	2142	4	0			c.G12625T						scavenged	.						140	144	143					1																	228482059		2160	4259	6419	SO:0001583	missense	84033	exon47			GATGCCGGGGAGT	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.11338G>T	1.37:g.228482059G>T	ENSP00000409493:p.Gly3780Trp	Somatic	386	3	0.00777202		WXS	Illumina HiSeq	Phase_I	356	4	0.011236	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	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594671	0.66219	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.98	4.05	0.47172	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180214	0.35555	N	0.003125	T	0.64438	0.2598	H	0.99863	4.86	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83351	-0.0003	10	0.87932	D	0	.	15.6657	0.77227	0.0:0.1373:0.8627:0.0	.	3780;3780	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3780;3780;899;899;2627	ENSP00000284548:G3780W;ENSP00000409493:G3780W;ENSP00000355668:G899W;ENSP00000355670:G899W;ENSP00000352613:G2627W	ENSP00000284548:G3780W	G	+	1	0	OBSCN	226548682	1.000000	0.71417	0.903000	0.35520	0.190000	0.23558	5.384000	0.66225	1.314000	0.45095	0.508000	0.49915	GGG	G|0.979;A|0.021	.	alt		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228482059	G	T	228482059	3	4	1	1	0	0	0	0	1	0	0	0	10812	1116	39	4	11500	4	OBSCN	1	228482059	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1645612	228482059	20768562	34	34										
CHRM3	1131	hgsc.bcm.edu	37	chr1	240071117	240071117	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	attatcggggtcatttcaatGaatctgtttacgacctacat	7	8	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:240071117G>T	ENST00000255380.4	+	5	1145	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	122					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.M122I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCATTTCAATGAATCTGTTTA	0.473																																					p.M122I		Atlas-SNP	.											CHRM3,NS,carcinoma,0,1	CHRM3	118	1	1	Substitution - Missense(1)	breast(1)	c.G366T						scavenged	.						106	91	96					1																	240071117		2203	4300	6503	SO:0001583	missense	1131	exon5			TTCAATGAATCTG	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.366G>T	1.37:g.240071117G>T	ENSP00000255380:p.Met122Ile	Somatic	377	1	0.00265252		WXS	Illumina HiSeq	Phase_I	349	58	0.166189	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331523	0.81690	.	.	ENSG00000133019	ENST00000255380	T	0.17213	2.29	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05338	-1.0891	10	0.87932	D	0	-30.8099	20.2789	0.98501	0.0:0.0:1.0:0.0	.	122	P20309	ACM3_HUMAN	I	122	ENSP00000255380:M122I	ENSP00000255380:M122I	M	+	3	0	CHRM3	238137740	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	ATG	.	.	none		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240071117	G	T	240071117	3	4	1	1	0	0	0	0	1	0	0	0	3378	1290	45	4	368	4	CHRM3	1	240071117	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	11589058	240071117	9179504	35	35										
OR2M5	127059	hgsc.bcm.edu	37	chr1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tactaatcctctcatgcaatGacacatcaatatttgaaaag	4	9	2	2	rs139290187	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		Atlas-SNP	.											OR2M5,NS,carcinoma,0,2	OR2M5	117	2	0			c.G571A						scavenged	.						284	272	276					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	Somatic	429	5	0.011655		WXS	Illumina HiSeq	Phase_I	454	5	0.0110132	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.996;A|0.004	0.004	strong		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309020	G	A	248309020	3	1	1	1	0	0	0	0	1	0	0	0	11013	1290	45	2	573	2	OR2M5	1	248309020	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	8237903	248309020	941601	36	36										
OR2T33	391195	hgsc.bcm.edu	37	chr1	248436963	248436963	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtacatgggcgtgtggagccGgtggtcccagtgaatcagga	17	8	1	1	rs560438352	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:248436963G>T	ENST00000318021.2	-	1	175	c.154C>A	c.(154-156)Cgg>Agg	p.R52R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	52						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)			GTGTGGAGCCGGTGGTCCCAG	0.527													t|||	74	0.0147764	0.0545	0.0029	5008	,	,		16409	0.0		0.0	False		,,,				2504	0.0				p.R52R		Atlas-SNP	.											OR2T33,NS,carcinoma,0,1	OR2T33	133	1	0			c.C154A						scavenged	.						58	56	57					1																	248436963		2195	4288	6483	SO:0001819	synonymous_variant	391195	exon1			GGAGCCGGTGGTC		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.154C>A	1.37:g.248436963G>T		Somatic	769	28	0.0364109		WXS	Illumina HiSeq	Phase_I	940	37	0.0393617	NM_001004695	B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																			.	.	none		0.527	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436963	G	T	248436963	2	4	1	1	0	0	0	0	0	0	0	1	11024	1115	39	4		4	OR2T33	1	248436963	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	127943	248436963	813658	37	37										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616764	248616764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctgtctcctacacgcacatCctcctgactgtccacaggat	6	16	2	1	rs376553658		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																					p.I222I		Atlas-SNP	.											OR2T2,NS,carcinoma,0,1	OR2T2	73	1	0			c.C666T						scavenged	.						182	125	144					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	401992	exon1			GCACATCCTCCTG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T		Somatic	409	8	0.0195599		WXS	Illumina HiSeq	Phase_I	509	28	0.0550098	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			C|0.500;T|0.500	0.500	strong		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616764	C	T	248616764	2	4	1	1	0	0	0	0	0	0	0	1	11020	845	30	2		2	OR2T2	1	248616764	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	179801	248616764	633857	38	38										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32724813	32724813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cagatagctccgtgggtgctCgagcatgctttgggggactc	15	10	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:32724813C>T	ENST00000421745.2	+	46	8802	c.8668C>T	c.(8668-8670)Cga>Tga	p.R2890*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2890					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)					CGTGGGTGCTCGAGCATGCTT	0.438																																					p.R2890X	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											BIRC6_ENST00000421745,NS,carcinoma,-1,4	BIRC6	838	4	0			c.C8668T						scavenged	.						216	211	213					2																	32724813		2203	4300	6503	SO:0001587	stop_gained	57448	exon46			GGTGCTCGAGCAT	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.8668C>T	2.37:g.32724813C>T	ENSP00000393596:p.Arg2890*	Somatic	210	2	0.00952381		WXS	Illumina HiSeq	Phase_I	286	65	0.227273	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	51	17.445868	0.99886	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.7907	0.69841	0.2614:0.7386:0.0:0.0	.	.	.	.	X	2890	.	ENSP00000393596:R2890X	R	+	1	2	BIRC6	32578317	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.557000	0.45871	1.370000	0.46153	0.655000	0.94253	CGA	.	.	none		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32724813	C	T	32724813	4	4	1	1	0	0	0	0	0	1	0	0	1438	876	31	1	8850	1	BIRC6	2	32724813	Nonsense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10		32724813	210474560	39	39										
LOXL3	84695	hgsc.bcm.edu	37	chr2	74761669	74761669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccctctcacccatggcactcGtgccacacccaggagtggcg	10	18	1	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:74761669G>A	ENST00000264094.3	-	10	1883	c.1812C>T	c.(1810-1812)caC>caT	p.H604H	LOXL3_ENST00000393937.2_Silent_p.H459H|LOXL3_ENST00000409986.1_Silent_p.H459H|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.H548H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	604	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CATGGCACTCGTGCCACACCC	0.607																																					p.H604H		Atlas-SNP	.											.	LOXL3	73	.	0			c.C1812T						PASS	.						41	42	42					2																	74761669		2203	4300	6503	SO:0001819	synonymous_variant	84695	exon10			GCACTCGTGCCAC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1812C>T	2.37:g.74761669G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	114	6	0.0526316	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	CCDS1953.1																																																																																			.	.	none		0.607	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		A	74761669	G	A	74761669	2	1	1	1	0	0	0	0	0	0	0	1	8901	1136	40	1		1	LOXL3	2	74761669	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	42036856	74761669	168437704	40	40										
TEKT4	150483	hgsc.bcm.edu	37	chr2	95542364	95542364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgagagaagcttctagaagcGgagcagtccctgcgcaacct	12	12	1	2	rs113812263	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:95542364G>A	ENST00000295201.4	+	6	1295	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	386					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TTCTAGAAGCGGAGCAGTCCC	0.597																																					p.A386A		Atlas-SNP	.											TEKT4,caecum,carcinoma,0,3	TEKT4	72	3	0			c.G1158A						scavenged	.						63	50	54					2																	95542364		2203	4300	6503	SO:0001819	synonymous_variant	150483	exon6			AGAAGCGGAGCAG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1158G>A	2.37:g.95542364G>A		Somatic	65	2	0.0307692		WXS	Illumina HiSeq	Phase_I	82	5	0.0609756	NM_144705		Silent	SNP	ENST00000295201.4	37	CCDS2005.1																																																																																			G|0.972;A|0.028	0.028	strong		0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95542364	G	A	95542364	2	1	1	1	0	0	0	0	0	0	0	1	15752	1103	39	1		1	TEKT4	2	95542364	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	20780695	95542364	147657009	41	41										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96809580	96809580	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cctcagtgacacagcacctgGgtctcaaactgcagcagctg	10	14	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:96809580G>T	ENST00000288943.4	-	4	1012	c.927C>A	c.(925-927)acC>acA	p.T309T	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	309					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				ACAGCACCTGGGTCTCAAACT	0.642																																					p.T309T		Atlas-SNP	.											DUSP2,NS,NS,-2,2	DUSP2	20	2	0			c.C927A						scavenged	.						42	41	41					2																	96809580		2203	4300	6503	SO:0001819	synonymous_variant	1844	exon4			CACCTGGGTCTCA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.927C>A	2.37:g.96809580G>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	201	3	0.0149254	NM_004418	Q53T45	Silent	SNP	ENST00000288943.4	37	CCDS2016.1																																																																																			.	.	none		0.642	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		T	96809580	G	T	96809580	2	4	1	1	0	0	0	0	0	0	0	1	4819	1219	43	4		4	DUSP2	2	96809580	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1267216	96809580	146389793	42	42										
PDCL3	79031	hgsc.bcm.edu	37	chr2	101188050	101188050	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gttttctatgtgtgttttatAgaattcccctctgtgccctg	8	9	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:101188050A>G	ENST00000264254.6	+	5	746		c.e5-1			NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.?(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGTGTTTTATAGAATTCCCCT	0.388																																					.		Atlas-SNP	.											PDCL3,NS,carcinoma,0,1	PDCL3	27	1	1	Unknown(1)	lung(1)	c.369-2A>G						PASS	.						129	129	129					2																	101188050		2203	4300	6503	SO:0001630	splice_region_variant	79031	exon5			TTTTATAGAATTC	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.369-1A>G	2.37:g.101188050A>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	29	7	0.241379	NM_024065	B2RA00|Q53S68	Splice_Site	SNP	ENST00000264254.6	37	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	a	17.13	3.311619	0.60414	.	.	ENSG00000115539	ENST00000264254;ENST00000416255;ENST00000450127	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCL3	100554482	1.000000	0.71417	0.985000	0.45067	0.633000	0.38033	8.950000	0.93019	2.150000	0.67090	0.514000	0.50259	.	.	.	none		0.388	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065	Intron	G	101188050	A	G	101188050	5	3	1	1	0	0	0	0	0	0	1	0	11628	434	15	3	385	3	PDCL3	2	101188050	Splice_Site	SNP	A	TCGA-FA-8693-01A-11D-2397-10	4378470	101188050	142011323	43	43										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147238	113147238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctcttcgcatcagcattcttAgtttgccattgacctcgttt	6	12	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:113147238A>G	ENST00000302558.3	-	20	3475	c.3284T>C	c.(3283-3285)cTa>cCa	p.L1095P	RGPD8_ENST00000409750.1_Missense_Mutation_p.L955P	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1095	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CAGCATTCTTAGTTTGCCATT	0.418																																					p.L1095P		Atlas-SNP	.											RGPD8_ENST00000302558,NS,carcinoma,0,2	RGPD8	81	2	0			c.T3284C						scavenged	.						1	1	1					2																	113147238		3	5	8	SO:0001583	missense	727851	exon20			ATTCTTAGTTTGC	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3284T>C	2.37:g.113147238A>G	ENSP00000306637:p.Leu1095Pro	Somatic	47	3	0.0638298		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.070	-1.203988	0.01581	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.44083	0.93;0.93	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.39682	0.1087	M	0.70595	2.14	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.36890	-0.9729	9	0.48119	T	0.1	-0.3282	8.205	0.31449	1.0:0.0:0.0:0.0	.	1095	O14715	RGPD8_HUMAN	P	1095;955	ENSP00000306637:L1095P;ENSP00000386511:L955P	ENSP00000306637:L1095P	L	-	2	0	RGPD8	112863709	1.000000	0.71417	0.884000	0.34674	0.576000	0.36127	7.271000	0.78506	1.068000	0.40764	0.128000	0.15822	CTA	.	.	weak		0.418	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		G	113147238	A	G	113147238	3	3	1	1	0	0	0	0	1	0	0	0	13289	420	15	3	13043	3	RGPD5	2	113147238	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	11959188	113147238	130052135	44	44										
EPB41L5	57669	hgsc.bcm.edu	37	chr2	120799656	120799656	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	attgaaagcgactattttggTctgagatttatggattcagc	10	5	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:120799656T>G	ENST00000263713.5	+	3	469	c.255T>G	c.(253-255)ggT>ggG	p.G85G	EPB41L5_ENST00000452780.1_Silent_p.G85G|EPB41L5_ENST00000443902.2_Silent_p.G85G|EPB41L5_ENST00000443124.1_Silent_p.G85G|EPB41L5_ENST00000331393.4_Silent_p.G85G	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	85	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACTATTTTGGTCTGAGATTTA	0.343																																					p.G85G		Atlas-SNP	.											.	EPB41L5	98	.	0			c.T255G						PASS	.						156	147	150					2																	120799656		2203	4300	6503	SO:0001819	synonymous_variant	57669	exon3			TTTTGGTCTGAGA	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.255T>G	2.37:g.120799656T>G		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	241	36	0.149378	NM_020909	Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	CCDS2130.1																																																																																			.	.	none		0.343	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		G	120799656	T	G	120799656	2	3	1	1	0	0	0	0	0	0	0	1	5157	1654	58	5		5	EPB41L5	2	120799656	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	7652418	120799656	122399717	45	45										
GLI2	2736	hgsc.bcm.edu	37	chr2	121708820	121708820	+	Splice_Site	DEL	C	C	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgcccattgtctctgcaggCcccctgccctcagcggcagc							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:121708820delC	ENST00000452319.1	+	4	316	c.256delC	c.(256-258)ccc>cc	p.P87fs	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Splice_Site_p.P87fs					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCTCTGCAGGCCCCCTGCCCT	0.622																																					p.G85fs		Pindel,Atlas-Indel	.											.	GLI2	187	.	0			c.255delG						PASS	.						99	112	107					2																	121708820		2203	4299	6502	SO:0001630	splice_region_variant	2736	exon3			.		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.255-1C>-	2.37:g.121708820delC		Somatic	241	.	.		WXS	Illumina HiSeq	Phase_I	221	36	0.163	NM_005270		Frame_Shift_Del	DEL	ENST00000452319.1	37	CCDS33283.1																																																																																			.	.	none		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	Frame_Shift_Del	-	121708820	C	-	121708820	8	5	1	1	0	1	0	1	0	0	1	0	6438	753	26	0	266	0	GLI2	2	121708820	Splice_Site	DEL	C	TCGA-FA-8693-01A-11D-2397-10	909164	121708820	121490553	46	46										
GLI2	2736	hgsc.bcm.edu	37	chr2	121747495	121747495	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcagcctccatgagccaggaGggctaccaccaggtccccag	12	16	0	1	rs570401582		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:121747495G>C	ENST00000452319.1	+	14	4065	c.4005G>C	c.(4003-4005)gaG>gaC	p.E1335D	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.E1335D					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGAGCCAGGAGGGCTACCACC	0.657																																					p.E1335D		Atlas-SNP	.											.	GLI2	187	.	0			c.G4005C						PASS	.						17	18	18					2																	121747495		2200	4295	6495	SO:0001583	missense	2736	exon13			CCAGGAGGGCTAC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4005G>C	2.37:g.121747495G>C	ENSP00000390436:p.Glu1335Asp	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	79	19	0.240506	NM_005270		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	6.282	0.420101	0.11928	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14516	2.5;2.5	4.55	-0.643	0.11482	.	0.579611	0.18288	N	0.145806	T	0.06508	0.0167	N	0.25647	0.755	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.32134	-0.9918	9	.	.	.	.	1.8185	0.03105	0.2117:0.2668:0.3922:0.1293	.	1335;990	P10070;P10070-2	GLI2_HUMAN;.	D	1335	ENSP00000390436:E1335D;ENSP00000354586:E1335D	.	E	+	3	2	GLI2	121463965	0.923000	0.31300	0.210000	0.23637	0.895000	0.52256	0.437000	0.21543	-0.051000	0.13334	0.455000	0.32223	GAG	.	.	none		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		C	121747495	G	C	121747495	3	2	1	1	0	0	0	0	1	0	0	0	6438	991	35	4	4055	4	GLI2	2	121747495	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	38675	121747495	121451878	47	47										
POTEF	728378	hgsc.bcm.edu	37	chr2	130877892	130877892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcagcaggggaagcagtggCggcaccacttgcccatcttg	14	12	1	0	rs11889701	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:130877892C>T	ENST00000409914.2	-	3	596	c.197G>A	c.(196-198)cGc>cAc	p.R66H	POTEF_ENST00000360967.5_Missense_Mutation_p.R66H|POTEF_ENST00000361163.4_Missense_Mutation_p.R66H|POTEF_ENST00000357462.5_Missense_Mutation_p.R66H	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAAGCAGTGGCGGCACCACTT	0.602													.|||	37	0.00738818	0.0272	0.0	5008	,	,		15114	0.0		0.0	False		,,,				2504	0.001				p.R66H		Atlas-SNP	.											POTEF,NS,carcinoma,-1,12	POTEF	140	12	0			c.G197A						scavenged	.						91	126	114					2																	130877892		2167	4294	6461	SO:0001583	missense	728378	exon3			CAGTGGCGGCACC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.197G>A	2.37:g.130877892C>T	ENSP00000386786:p.Arg66His	Somatic	396	19	0.0479798		WXS	Illumina HiSeq	Phase_I	492	32	0.0650406	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.587100	0.00872	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.74;1.76	.	.	.	.	.	.	.	.	T	0.47469	0.1447	N	0.01109	-1.01	0.09310	N	1	D	0.56521	0.976	P	0.46629	0.522	T	0.47509	-0.9112	7	0.12766	T	0.61	.	.	.	.	.	66	A5A3E0	POTEF_HUMAN	H	66	ENSP00000350052:R66H;ENSP00000386786:R66H;ENSP00000354232:R66H;ENSP00000355012:R66H	ENSP00000350052:R66H	R	-	2	0	POTEF	130594362	0.005000	0.15991	0.077000	0.20336	0.096000	0.18686	-1.080000	0.03407	0.149000	0.19098	0.152000	0.16155	CGC	C|0.500;T|0.500	0.500	weak		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877892	C	T	130877892	3	4	1	1	0	0	0	0	1	0	0	0	12265	768	27	1	3090	1	POTEF	2	130877892	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	9130397	130877892	112321481	48	48										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	644	6	0.00931677		WXS	Illumina HiSeq	Phase_I	749	11	0.0146862	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	1	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1143792	132021684	111177689	49	49										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021817	132021817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgagcaggagatggccacggCggcctccagctcctccctag	13	16	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:132021817C>T	ENST00000356920.5	+	15	2883	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	930	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A930V(1)									ATGGCCACGGCGGCCTCCAGC	0.617																																					p.A930V		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	endometrium(1)	c.C2789T						scavenged	.						142	158	152					2																	132021817		2201	4297	6498	SO:0001583	missense	445582	exon15			CCACGGCGGCCTC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2789C>T	2.37:g.132021817C>T	ENSP00000439189:p.Ala930Val	Somatic	244	4	0.0163934		WXS	Illumina HiSeq	Phase_I	303	7	0.0231023	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.195218	0.38806	.	.	ENSG00000188219	ENST00000356920	D	0.94650	-3.48	.	.	.	.	.	.	.	.	D	0.92721	0.7686	M	0.85945	2.785	0.80722	D	1	B	0.17465	0.022	B	0.09377	0.004	D	0.86962	0.2092	8	0.49607	T	0.09	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	930	Q6S8J3	POTEE_HUMAN	V	930	ENSP00000439189:A930V	ENSP00000439189:A930V	A	+	2	0	AC131180.1	131738287	1.000000	0.71417	0.549000	0.28204	0.554000	0.35429	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	GCG	C|1.000;|0.000	.	weak		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021817	C	T	132021817	3	4	1	1	0	0	0	0	1	0	0	0	12264	768	27	1	2847	1	POTEE	2	132021817	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	133	132021817	111177556	50	50										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141356256	141356256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttttcctagactgccatctgAgaaatacagcttctctgcac	6	12	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:141356256A>G	ENST00000389484.3	-	43	8109	c.7138T>C	c.(7138-7140)Tca>Cca	p.S2380P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2380					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGCCATCTGAGAAATACAGC	0.398										TSP Lung(27;0.18)																											p.S2380P	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											LRP1B,NS,carcinoma,+1,3	LRP1B	1315	3	0			c.T7138C						PASS	.						165	147	153					2																	141356256		2203	4300	6503	SO:0001583	missense	53353	exon43			CATCTGAGAAATA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7138T>C	2.37:g.141356256A>G	ENSP00000374135:p.Ser2380Pro	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	295	58	0.19661	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845113	0.71603	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92249	-3.0	5.64	4.42	0.53409	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000003	D	0.94594	0.8258	M	0.88570	2.965	0.51233	D	0.999919	D	0.57899	0.981	P	0.52109	0.69	D	0.94914	0.8067	10	0.56958	D	0.05	.	12.4181	0.55504	0.8599:0.1401:0.0:0.0	.	2380	Q9NZR2	LRP1B_HUMAN	P	2380;2318	ENSP00000374135:S2380P	ENSP00000374135:S2380P	S	-	1	0	LRP1B	141072726	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.291000	0.78721	2.156000	0.67533	0.377000	0.23210	TCA	.	.	none		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141356256	A	G	141356256	3	3	1	1	0	0	0	0	1	0	0	0	8955	304	11	3	6857	3	LRP1B	2	141356256	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	9334439	141356256	101843117	51	51										
SCN1A	6323	hgsc.bcm.edu	37	chr2	166847770	166847770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcatttatttccctttggcTttttcatctttgccttcttg	4	10	4	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:166847770T>G	ENST00000303395.4	-	26	6014	c.6015A>C	c.(6013-6015)aaA>aaC	p.K2005N	SCN1A_ENST00000375405.3_Missense_Mutation_p.K1994N|SCN1A_ENST00000423058.2_Missense_Mutation_p.K2005N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1977N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	2005					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)	tCCCTTTGGCTTTTTCATCTT	0.383																																					p.K2005N		Atlas-SNP	.											SCN1A_ENST00000303395,NS,carcinoma,-1,2	SCN1A	641	2	0			c.A6015C						PASS	.						75	70	72					2																	166847770		2201	4300	6501	SO:0001583	missense	6323	exon26			TTTGGCTTTTTCA	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.6015A>C	2.37:g.166847770T>G	ENSP00000303540:p.Lys2005Asn	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	55	16	0.290909	NM_001165963	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	9.523	1.108698	0.20714	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96168	-3.93;-3.93;-3.89;-3.86	5.67	3.33	0.38152	.	0.462954	0.22275	N	0.062216	D	0.86535	0.5956	N	0.08118	0	0.34054	D	0.656484	B	0.15473	0.013	B	0.19391	0.025	T	0.81959	-0.0694	10	0.62326	D	0.03	.	2.4206	0.04447	0.2292:0.3772:0.0:0.3937	.	1994	P35498-2	.	N	2005;2005;1994;1977	ENSP00000407030:K2005N;ENSP00000303540:K2005N;ENSP00000364554:K1994N;ENSP00000386312:K1977N	ENSP00000303540:K2005N	K	-	3	2	SCN1A	166556016	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.969000	0.40510	0.980000	0.38523	0.397000	0.26171	AAA	.	.	none		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		G	166847770	T	G	166847770	3	3	1	1	0	0	0	0	1	0	0	0	13914	1606	56	5	18	5	SCN1A	2	166847770	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	25491514	166847770	76351603	52	52										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167168208	167168208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcgttgttcaatgagggcaAgagactgttttgtgaaatgg	14	4	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:167168208A>G	ENST00000409435.1	-	1	58	c.59T>C	c.(58-60)cTt>cCt	p.L20P	SCN9A_ENST00000303354.6_Missense_Mutation_p.L20P|SCN9A_ENST00000409672.1_Missense_Mutation_p.L20P|SCN9A_ENST00000375387.4_Missense_Mutation_p.L20P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	20					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGAGGGCAAGAGACTGTTT	0.428																																					p.L20P		Atlas-SNP	.											SCN9A,colon,carcinoma,+1,2	SCN9A	296	2	0			c.T59C						PASS	.						97	95	96					2																	167168208		1908	4140	6048	SO:0001583	missense	6335	exon2			AGGGCAAGAGACT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.59T>C	2.37:g.167168208A>G	ENSP00000386330:p.Leu20Pro	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	81	19	0.234568	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.283973	0.80803	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98012	-4.65;-4.66;-4.66;-4.66	5.43	5.43	0.79202	.	0.235814	0.30227	N	0.010109	D	0.99180	0.9716	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99100	1.0843	10	0.87932	D	0	.	15.1326	0.72536	1.0:0.0:0.0:0.0	.	20	E7EUN6	.	P	20	ENSP00000386306:L20P;ENSP00000364536:L20P;ENSP00000304748:L20P;ENSP00000386330:L20P	ENSP00000304748:L20P	L	-	2	0	SCN9A	166876454	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.307000	0.96226	2.055000	0.61198	0.533000	0.62120	CTT	.	.	none		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		G	167168208	A	G	167168208	3	3	1	1	0	0	0	0	1	0	0	0	13925	72	3	3	5978	3	SCN9A	2	167168208	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	320438	167168208	76031165	53	53										
AOX1	316	hgsc.bcm.edu	37	chr2	201478599	201478599	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtctcccttttgggctcggcGccaggtgggaaagtggagtt	16	9	1	0	rs200716526		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:201478599G>T	ENST00000374700.2	+	15	1762	c.1521G>T	c.(1519-1521)gcG>gcT	p.A507A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGCTCGGCGCCAGGTGGGA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19816	0.0		0.0	False		,,,				2504	0.0				p.A507A		Atlas-SNP	.											AOX1,NS,carcinoma,+1,3	AOX1	152	3	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.G1521T						scavenged	.						95	92	93					2																	201478599		2203	4300	6503	SO:0001819	synonymous_variant	316	exon15			CTCGGCGCCAGGT	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1521G>T	2.37:g.201478599G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	124	3	0.0241935	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	CCDS33360.1																																																																																			G|1.000;T|0.000	0.000	strong		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201478599	G	T	201478599	2	4	1	1	0	0	0	0	0	0	0	1	729	1074	38	4		4	AOX1	2	201478599	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	34310391	201478599	41720774	54	54										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228173618	228173618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtctgatgtttcattaggaaCtcttggcagctgcctgcagc	11	10	3	1	rs200818438		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:228173618C>A	ENST00000396578.3	+	49	4628	c.4466C>A	c.(4465-4467)aCt>aAt	p.T1489N	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1489	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCATTAGGAACTCTTGGCAGC	0.363																																					p.T1489N		Atlas-SNP	.											.	COL4A3	293	.	0			c.C4466A						PASS	.						104	93	97					2																	228173618		1903	4123	6026	SO:0001583	missense	1285	exon49			TAGGAACTCTTGG		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4466C>A	2.37:g.228173618C>A	ENSP00000379823:p.Thr1489Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	33	0.314286	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948596	0.73787	.	.	ENSG00000169031	ENST00000396578;ENST00000328380	D	0.94280	-3.39	5.97	5.97	0.96955	C-type lectin fold (1);	0.102311	0.43260	D	0.000584	D	0.96756	0.8941	M	0.86178	2.8	0.80722	D	1	D;D	0.63046	0.992;0.979	P;P	0.62740	0.906;0.884	D	0.95139	0.8262	10	0.31617	T	0.26	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1489;1489	Q01955-2;Q01955	.;CO4A3_HUMAN	N	1489	ENSP00000379823:T1489N	ENSP00000327594:T1489N	T	+	2	0	COL4A3	227881862	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	ACT	.	.	alt		0.363	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		A	228173618	C	A	228173618	3	1	1	1	0	0	0	0	1	0	0	0	3691	565	20	4	4660	4	COL4A3	2	228173618	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	26695019	228173618	15025755	55	55										
AGAP1	116987	hgsc.bcm.edu	37	chr2	236715883	236715883	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	actttccttttgctttgcagTctcggaaagggagcgaccca	10	11	1	0	rs202230563	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr2:236715883T>C	ENST00000304032.8	+	9	1538	c.958T>C	c.(958-960)Tct>Cct	p.S320P	AGAP1_ENST00000336665.5_Splice_Site_p.S320P|AGAP1_ENST00000428334.2_Splice_Site_p.S159P|AGAP1_ENST00000409538.1_Splice_Site_p.S585P|AGAP1_ENST00000409457.1_Splice_Site_p.S320P	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	320					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTTGCAGTCTCGGAAAGG	0.532																																					p.S320P		Atlas-SNP	.											.	AGAP1	95	.	0			c.T958C						PASS	.	T	PRO/SER,PRO/SER	0,4406		0,0,2203	80	88	86		958,958	5.1	1	2		86	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice,missense-near-splice	AGAP1	NM_001037131.2,NM_014914.4	74,74	0,4,6499	CC,CT,TT		0.0465,0.0,0.0308	probably-damaging,probably-damaging	320/858,320/805	236715883	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	116987	exon9			TTGCAGTCTCGGA	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.958-1T>C	2.37:g.236715883T>C		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	57	5	0.0877193	NM_014914	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336551	0.41398	0.0	4.65E-4	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.78314	0.991;0.98	T	0.36456	-0.9747	9	.	.	.	.	15.2676	0.73675	0.0:0.0:0.0:1.0	.	320;320	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	P	320;320;320;585;159	ENSP00000387174:S320P;ENSP00000307634:S320P;ENSP00000338378:S320P;ENSP00000386897:S585P;ENSP00000411824:S159P	.	S	+	1	0	AGAP1	236380622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.064000	0.61679	0.533000	0.62120	TCT	T|0.998;C|0.002	0.002	strong		0.532	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	Missense_Mutation	C	236715883	T	C	236715883	5	2	1	1	0	0	0	0	0	0	1	0	366	1681	58	2	992	2	AGAP1	2	236715883	Splice_Site	SNP	T	TCGA-FA-8693-01A-11D-2397-10	8542265	236715883	6483490	56	56										
HRH1	3269	hgsc.bcm.edu	37	chr3	11301217	11301217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggttattcccattctaggctGgaatcacttcatgcagcaga	9	10	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:11301217G>T	ENST00000397056.1	+	3	685	c.494G>T	c.(493-495)tGg>tTg	p.W165L	HRH1_ENST00000438284.2_Missense_Mutation_p.W165L|HRH1_ENST00000431010.2_Missense_Mutation_p.W165L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	165					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATTCTAGGCTGGAATCACTTC	0.527																																					p.W165L		Atlas-SNP	.											HRH1,NS,carcinoma,-1,1	HRH1	58	1	0			c.G494T						scavenged	.						101	96	97					3																	11301217		2203	4300	6503	SO:0001583	missense	3269	exon3			TAGGCTGGAATCA		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.494G>T	3.37:g.11301217G>T	ENSP00000380247:p.Trp165Leu	Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	134	2	0.0149254	NM_000861	A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007825	0.93287	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.70869	-0.52;-0.52;-0.52	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83958	0.0320	10	0.66056	D	0.02	-19.6705	20.4434	0.99119	0.0:0.0:1.0:0.0	.	165	P35367	HRH1_HUMAN	L	165	ENSP00000406705:W165L;ENSP00000397028:W165L;ENSP00000380247:W165L	ENSP00000380247:W165L	W	+	2	0	HRH1	11276217	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	9.731000	0.98807	2.838000	0.97847	0.655000	0.94253	TGG	.	.	none		0.527	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			T	11301217	G	T	11301217	3	4	1	1	0	0	0	0	1	0	0	0	7355	1357	47	4	496	4	HRH1	3	11301217	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10		11301217	186721213	57	57										
TOP2B	7155	hgsc.bcm.edu	37	chr3	25674218	25674218	+	Frame_Shift_Del	DEL	T	T	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgatacaccagctttgttcTttttcttaactacttcaatc							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:25674218delT	ENST00000264331.4	-	9	1093	c.1094delA	c.(1093-1095)aagfs	p.K365fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.K360fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	365	Interaction with DNA. {ECO:0000250}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AGCTTTGTTCTTTTTCTTAAC	0.313																																					p.K360fs		Pindel,Atlas-Indel	.											.	TOP2B	98	.	0			c.1080delG						PASS	.						141	142	141					3																	25674218		1859	4100	5959	SO:0001589	frameshift_variant	7155	exon9			.	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1094delA	3.37:g.25674218delT	ENSP00000264331:p.Lys365fs	Somatic	204	.	.		WXS	Illumina HiSeq	Phase_I	261	42	0.161	NM_001068	Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																				.	.	none		0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				-	25674218	T	-	25674218	7	5	1	1	0	1	0	1	0	0	0	0	16363	1609	56	0	3898	0	TOP2B	3	25674218	Frame_Shift_Del	DEL	T	TCGA-FA-8693-01A-11D-2397-10	14373001	25674218	172348212	58	58										
GOLGA4	2803	hgsc.bcm.edu	37	chr3	37368928	37368928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaaggaactaacctgtcagAttttggagcaaaagataaaa	9	5	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:37368928A>T	ENST00000361924.2	+	14	5925	c.5551A>T	c.(5551-5553)Att>Ttt	p.I1851F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1873F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1851	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACCTGTCAGATTTTGGAGCA	0.368																																					p.I1873F		Atlas-SNP	.											.	GOLGA4	173	.	0			c.A5617T						PASS	.						56	58	57					3																	37368928		2203	4298	6501	SO:0001583	missense	2803	exon15			TGTCAGATTTTGG	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5551A>T	3.37:g.37368928A>T	ENSP00000354486:p.Ile1851Phe	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	71	18	0.253521	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367946	0.24771	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23147	1.92;1.92;1.92	4.81	-1.98	0.07480	.	1.321480	0.05575	N	0.571778	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.26744	0.001;0.001;0.001;0.158	B;B;B;B	0.23574	0.003;0.002;0.002;0.047	T	0.39860	-0.9593	10	0.56958	D	0.05	.	5.1342	0.14926	0.445:0.0:0.36:0.1949	.	1851;1851;1873;1851	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	F	1851;1873;1722	ENSP00000354486:I1851F;ENSP00000349305:I1873F;ENSP00000405842:I1722F	ENSP00000349305:I1873F	I	+	1	0	GOLGA4	37343932	0.000000	0.05858	0.452000	0.26994	0.653000	0.38743	-0.420000	0.07062	0.009000	0.14813	-0.463000	0.05309	ATT	.	.	none		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37368928	A	T	37368928	3	4	1	1	0	0	0	0	1	0	0	0	6555	333	12	5	5675	5	GOLGA4	3	37368928	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	11694710	37368928	160653502	59	59										
RHOA	387	hgsc.bcm.edu	37	chr3	49413009	49413009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caacaatcaccagtttcttcCggatggcagccattgctgaa	8	12	2	1	rs11552758		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:49413009C>T	ENST00000418115.1	-	2	398	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	RHOA_ENST00000422781.1_Missense_Mutation_p.R5Q|RHOA_ENST00000454011.2_Missense_Mutation_p.R5Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	5					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.R5Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGTTTCTTCCGGATGGCAGC	0.473																																					p.R5Q		Atlas-SNP	.											RHOA,NS,lymphoid_neoplasm,0,7	RHOA	46	7	1	Substitution - Missense(1)	large_intestine(1)	c.G14A						PASS	.						106	97	100					3																	49413009		2203	4300	6503	SO:0001583	missense	387	exon2			TTCTTCCGGATGG	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.14G>A	3.37:g.49413009C>T	ENSP00000400175:p.Arg5Gln	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	171	51	0.298246	NM_001664	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291209	0.95546	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.70399	-0.3;1.78;-0.33;-0.48;2.14	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	L	0.38175	1.15	0.80722	D	1	B	0.18166	0.026	B	0.20184	0.028	T	0.61926	-0.6962	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	5	P61586	RHOA_HUMAN	Q	5	ENSP00000400175:R5Q;ENSP00000394483:R5Q;ENSP00000413587:R5Q;ENSP00000408402:R5Q;ENSP00000400747:R5Q	ENSP00000400175:R5Q	R	-	2	0	RHOA	49388013	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.652000	0.83633	2.809000	0.96659	0.558000	0.71614	CGG	.	.	weak		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		T	49413009	C	T	49413009	3	4	1	1	0	0	0	0	1	0	0	0	13331	652	23	1	583	1	RHOA	3	49413009	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	12044081	49413009	148609421	60	60										
PBRM1	55193	hgsc.bcm.edu	37	chr3	52584787	52584787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgtccatatggacttccaccTggtgctggagtccctaccat	9	13	0	0	rs2251219	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:52584787T>C	ENST00000296302.7	-	28	4657	c.4656A>G	c.(4654-4656)ccA>ccG	p.P1552P	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Silent_p.P1465P|PBRM1_ENST00000337303.4_Silent_p.P1445P|PBRM1_ENST00000409114.3_Silent_p.P1515P|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000409057.1_Silent_p.P1497P|PBRM1_ENST00000410007.1_Silent_p.P1472P|PBRM1_ENST00000409767.1_Silent_p.P1460P|PBRM1_ENST00000394830.3_Silent_p.P1445P			Q86U86	PB1_HUMAN	polybromo 1	1552	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTTCCACCTGGTGCTGGAG	0.468			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								T|||	1618	0.323083	0.1452	0.4654	5008	,	,		20114	0.4296		0.4195	False		,,,				2504	0.2536				p.P1445P		Atlas-SNP	.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252	.	0			c.A4335G						PASS	.	T	,,	766,3640	313.0+/-292.9	65,636,1502	80	74	76	http://www.ncbi.nlm.nih.gov/pubmed?term	4395,4335,4335	3.5	1	3	dbSNP_100	76	3517,5083	512.3+/-377.9	740,2037,1523	yes	coding-synonymous,coding-synonymous,coding-synonymous	PBRM1	NM_018165.4,NM_018313.4,NM_181042.3	,,	805,2673,3025	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	40.8953,17.3854,32.931	,,	1465/1603,1445/1583,1445/1583	52584787	4283,8723	2203	4300	6503	SO:0001819	synonymous_variant	55193	exon28			TCCACCTGGTGCT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4656A>G	3.37:g.52584787T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	101	5	0.049505	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																				T|0.654;C|0.346	0.346	strong		0.468	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52584787	T	C	52584787	2	2	1	1	0	0	0	0	0	0	0	1	11491	1567	55	3		3	PBRM1	3	52584787	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	3171778	52584787	145437643	61	61										
VGLL3	389136	hgsc.bcm.edu	37	chr3	87018229	87018229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctggtaagagctggtccaaaAggaagttgggaaactattcc	12	7	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:87018229A>C	ENST00000398399.2	-	3	811	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V	VGLL3_ENST00000383698.3_Missense_Mutation_p.F150V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CTGGTCCAAAAGGAAGTTGGG	0.483																																					p.F150V		Atlas-SNP	.											.	VGLL3	62	.	0			c.T448G						PASS	.						85	86	86					3																	87018229		1910	4132	6042	SO:0001583	missense	389136	exon3			TCCAAAAGGAAGT	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.448T>G	3.37:g.87018229A>C	ENSP00000381436:p.Phe150Val	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	58	14	0.241379	NM_016206		Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.991213|3.991213	0.74703|0.74703	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000398399;ENST00000383698|ENST00000494229	T;T|.	0.50277|.	0.76;0.75|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.204155|.	0.43260|.	D|.	0.000595|.	T|T	0.68026|0.68026	0.2956|0.2956	M|M	0.74881|0.74881	2.28|2.28	0.41670|0.41670	D|D	0.989238|0.989238	B|.	0.23806|.	0.091|.	B|.	0.17098|.	0.017|.	T|T	0.69892|0.69892	-0.5022|-0.5022	10|5	0.52906|.	T|.	0.07|.	-8.6808|-8.6808	10.3235|10.3235	0.43780|0.43780	0.9261:0.0:0.0739:0.0|0.9261:0.0:0.0739:0.0	.|.	150|.	A8MV65|.	VGLL3_HUMAN|.	V|R	150|83	ENSP00000381436:F150V;ENSP00000373199:F150V|.	ENSP00000373199:F150V|.	F|L	-|-	1|2	0|0	VGLL3|VGLL3	87100919|87100919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.414000|5.414000	0.66405|0.66405	2.252000|2.252000	0.74401|0.74401	0.459000|0.459000	0.35465|0.35465	TTT|CTT	.	.	none		0.483	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		C	87018229	A	C	87018229	3	2	1	1	0	0	0	0	1	0	0	0	17157	72	3	5	540	5	VGLL3	3	87018229	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	34433442	87018229	111004201	62	62										
ARHGAP31	57514	hgsc.bcm.edu	37	chr3	119109676	119109676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgaccttgccagccctctccCtgcccatgaagctggtgagc	10	16	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:119109676C>A	ENST00000264245.4	+	7	1259	c.727C>A	c.(727-729)Ctg>Atg	p.L243M		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	243					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCCCTCTCCCTGCCCATGAA	0.577																																					p.L243M	Pancreas(7;176 297 5394 51128 51241)	Atlas-SNP	.											ARHGAP31,NS,carcinoma,-2,1	ARHGAP31	175	1	0			c.C727A						scavenged	.						61	66	64					3																	119109676		1982	4156	6138	SO:0001583	missense	57514	exon7			CTCTCCCTGCCCA		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.727C>A	3.37:g.119109676C>A	ENSP00000264245:p.Leu243Met	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	85	3	0.0352941	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327434	0.60743	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07567	3.18	4.99	2.24	0.28232	.	0.134298	0.33895	N	0.004445	T	0.11153	0.0272	L	0.40543	1.245	0.34273	D	0.681191	P	0.43412	0.806	P	0.48901	0.594	T	0.14282	-1.0478	10	0.56958	D	0.05	.	9.2111	0.37320	0.0:0.7648:0.0:0.2352	.	243	Q2M1Z3	RHG31_HUMAN	M	243	ENSP00000264245:L243M	ENSP00000264245:L243M	L	+	1	2	ARHGAP31	120592366	0.970000	0.33590	1.000000	0.80357	0.989000	0.77384	0.827000	0.27421	0.302000	0.22762	-0.350000	0.07774	CTG	.	.	none		0.577	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			A	119109676	C	A	119109676	3	1	1	1	0	0	0	0	1	0	0	0	880	680	24	4	753	4	ARHGAP31	3	119109676	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	32091447	119109676	78912754	63	63										
KALRN	8997	hgsc.bcm.edu	37	chr3	124103697	124103697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgttgttgctggcagaatacGtacaccaatgcggacaagct	11	9	0	1	rs574174504	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:124103697G>A	ENST00000240874.3	+	11	1927	c.1770G>A	c.(1768-1770)acG>acA	p.T590T	KALRN_ENST00000460856.1_Silent_p.T590T|KALRN_ENST00000360013.3_Silent_p.T590T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	590					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGCAGAATACGTACACCAATG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17008	0.0		0.0	False		,,,				2504	0.0				p.T590T		Atlas-SNP	.											KALRN_ENST00000360013,NS,carcinoma,+1,4	KALRN	556	4	0			c.G1770A						PASS	.						83	71	75					3																	124103697		2203	4300	6503	SO:0001819	synonymous_variant	8997	exon11			GAATACGTACACC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1770G>A	3.37:g.124103697G>A		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	279	52	0.18638	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685732	0.14973	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50816	-0.8783	4	.	.	.	.	4.2215	0.10559	0.1084:0.3716:0.3202:0.1998	.	.	.	.	H	568	.	.	R	+	2	0	KALRN	125586387	0.000000	0.05858	0.080000	0.20451	0.960000	0.62799	-4.083000	0.00298	-3.444000	0.00162	-0.878000	0.02970	CGT	.	.	none		0.612	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	124103697	G	A	124103697	2	1	1	1	0	0	0	0	0	0	0	1	7975	1132	40	1		1	KALRN	3	124103697	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	4994021	124103697	73918733	64	64										
ROPN1B	152015	hgsc.bcm.edu	37	chr3	125702141	125702141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggtgaatgactttacccaaaAccccagggtttggctggagt	12	9	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:125702141A>G	ENST00000514116.1	+	7	932	c.617A>G	c.(616-618)aAc>aGc	p.N206S	ROPN1B_ENST00000251776.4_Missense_Mutation_p.N206S|ROPN1B_ENST00000505382.1_Missense_Mutation_p.N114S|ROPN1B_ENST00000511082.1_Missense_Mutation_p.N114S			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	206					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TTTACCCAAAACCCCAGGGTT	0.373																																					p.N206S		Atlas-SNP	.											.	ROPN1B	16	.	0			c.A617G						PASS	.						119	110	113					3																	125702141		2203	4300	6503	SO:0001583	missense	152015	exon6			CCCAAAACCCCAG	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.617A>G	3.37:g.125702141A>G	ENSP00000426271:p.Asn206Ser	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	137	19	0.138686	NM_001012337	D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585762	0.28268	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.22539	1.95;1.95;1.96;1.96	2.16	2.16	0.27623	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.22421	0.69	0.27471	N	0.95288	D	0.56035	0.974	D	0.67725	0.953	T	0.10636	-1.0621	10	0.07990	T	0.79	-14.4117	6.3386	0.21310	1.0:0.0:0.0:0.0	.	206	Q9BZX4	ROP1B_HUMAN	S	206;206;114;114	ENSP00000426271:N206S;ENSP00000251776:N206S;ENSP00000421662:N114S;ENSP00000424447:N114S	ENSP00000251776:N206S	N	+	2	0	ROPN1B	127184831	1.000000	0.71417	0.999000	0.59377	0.750000	0.42670	4.669000	0.61575	1.241000	0.43820	0.373000	0.22412	AAC	.	.	none		0.373	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		G	125702141	A	G	125702141	3	3	1	1	0	0	0	0	1	0	0	0	13524	43	2	2	635	2	ROPN1B	3	125702141	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1598444	125702141	72320289	65	65										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130128909	130128909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aagggctccaaaggagaacaAggaagacaagtaatttgatc	11	6	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:130128909A>T	ENST00000432398.2	+	19	5093	c.4599A>T	c.(4597-4599)caA>caT	p.Q1533H	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q1533H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1533	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGGAGAACAAGGAAGACAAG	0.308																																					p.Q1533H		Atlas-SNP	.											.	COL6A5	205	.	0			c.A4599T						PASS	.						209	209	209					3																	130128909		692	1591	2283	SO:0001583	missense	256076	exon19			AGAACAAGGAAGA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4599A>T	3.37:g.130128909A>T	ENSP00000390895:p.Gln1533His	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	78	16	0.205128	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	12.46	1.945999	0.34377	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.93307	-3.2;-3.2	5.52	5.52	0.82312	.	.	.	.	.	D	0.92192	0.7524	M	0.68728	2.09	0.27514	N	0.951595	B	0.23540	0.087	B	0.23852	0.049	D	0.86368	0.1721	9	0.45353	T	0.12	.	13.4845	0.61357	1.0:0.0:0.0:0.0	.	1533	A8TX70-2	.	H	1533	ENSP00000390895:Q1533H;ENSP00000265379:Q1533H	ENSP00000265379:Q1533H	Q	+	3	2	COL6A5	131611599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.344000	0.44010	2.236000	0.73375	0.528000	0.53228	CAA	.	.	none		0.308	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130128909	A	T	130128909	3	4	1	1	0	0	0	0	1	0	0	0	3702	69	3	5	4669	5	COL6A5	3	130128909	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	4426768	130128909	67893521	66	66										
PLOD2	5352	hgsc.bcm.edu	37	chr3	145841964	145841964	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tatttggctgactgcataaaTcgatggaatccatcactttc	7	9	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:145841964T>G	ENST00000360060.3	-	2	339	c.162A>C	c.(160-162)cgA>cgC	p.R54R	PLOD2_ENST00000494950.1_5'UTR|PLOD2_ENST00000282903.5_Silent_p.R54R	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	54					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACTGCATAAATCGATGGAATC	0.313																																					p.R54R		Atlas-SNP	.											PLOD2,colon,carcinoma,-2,5	PLOD2	81	5	0			c.A162C						PASS	.						154	151	152					3																	145841964		2202	4299	6501	SO:0001819	synonymous_variant	5352	exon2			CATAAATCGATGG	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.162A>C	3.37:g.145841964T>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	16	0.164948	NM_182943	B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	CCDS3131.1																																																																																			.	.	none		0.313	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		G	145841964	T	G	145841964	2	3	1	1	0	0	0	0	0	0	0	1	12102	1422	50	5		5	PLOD2	3	145841964	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	15713055	145841964	52180466	67	67										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167023655	167023655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctttaaatttctttcaaaggAggtgctttcctcaatttttt	5	7	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:167023655A>G	ENST00000392766.2	-	17	1841	c.1501T>C	c.(1501-1503)Tcc>Ccc	p.S501P	ZBBX_ENST00000392764.1_Missense_Mutation_p.S472P|ZBBX_ENST00000455345.2_Missense_Mutation_p.S501P|ZBBX_ENST00000307529.5_Missense_Mutation_p.S501P|ZBBX_ENST00000392767.2_Missense_Mutation_p.S501P	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	501						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTTCAAAGGAGGTGCTTTCC	0.348																																					p.S501P		Atlas-SNP	.											.	ZBBX	299	.	0			c.T1501C						PASS	.						54	48	49					3																	167023655		1798	4072	5870	SO:0001583	missense	79740	exon17			CAAAGGAGGTGCT	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1501T>C	3.37:g.167023655A>G	ENSP00000376519:p.Ser501Pro	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480260	0.26598	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10573	3.03;3.03;3.03;3.03;2.86	5.54	-3.07	0.05363	.	1.376370	0.04080	N	0.309527	T	0.05868	0.0153	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36040	-0.9764	10	0.33141	T	0.24	0.0641	0.6	0.00743	0.3168:0.135:0.1556:0.3926	.	501;501	A8MT70-2;A8MT70	.;ZBBX_HUMAN	P	501;501;501;501;472	ENSP00000376519:S501P;ENSP00000376520:S501P;ENSP00000390232:S501P;ENSP00000305065:S501P;ENSP00000376517:S472P	ENSP00000305065:S501P	S	-	1	0	ZBBX	168506349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.094000	0.15107	-0.425000	0.07371	-1.159000	0.01794	TCC	.	.	none		0.348	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167023655	A	G	167023655	3	3	1	1	0	0	0	0	1	0	0	0	17513	304	11	3	921	3	ZBBX	3	167023655	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	21181691	167023655	30998775	68	68										
NLGN1	22871	hgsc.bcm.edu	37	chr3	173322630	173322630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggggcctgttattcaatttcTtggggttccatatgcagccc	11	10	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:173322630T>C	ENST00000457714.1	+	3	671	c.242T>C	c.(241-243)cTt>cCt	p.L81P	NLGN1_ENST00000361589.4_Missense_Mutation_p.L81P|NLGN1_ENST00000545397.1_Missense_Mutation_p.L81P|NLGN1_ENST00000401917.3_Missense_Mutation_p.L81P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	81					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTCAATTTCTTGGGGTTCCA	0.458																																					p.L81P		Atlas-SNP	.											NLGN1,NS,carcinoma,+1,1	NLGN1	209	1	0			c.T242C						PASS	.						102	108	106					3																	173322630		2203	4300	6503	SO:0001583	missense	22871	exon3			AATTTCTTGGGGT	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.242T>C	3.37:g.173322630T>C	ENSP00000392500:p.Leu81Pro	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	64	11	0.171875	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620055	0.66787	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71934	-0.08;-0.08;-0.61;-0.08;-0.08	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	D	0.90202	0.6937	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.93761	0.7067	10	0.87932	D	0	.	16.1135	0.81278	0.0:0.0:0.0:1.0	.	81;81	D2X2H5;Q8N2Q7-2	.;.	P	81	ENSP00000392500:L81P;ENSP00000354541:L81P;ENSP00000410374:L81P;ENSP00000441108:L81P;ENSP00000385750:L81P	ENSP00000354541:L81P	L	+	2	0	NLGN1	174805324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.267000	0.75376	0.383000	0.25322	CTT	.	.	none		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		C	173322630	T	C	173322630	3	2	1	1	0	0	0	0	1	0	0	0	10461	1609	56	3	244	3	NLGN1	3	173322630	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	6298975	173322630	24699800	69	69										
MUC4	4585	hgsc.bcm.edu	37	chr3	195475799	195475799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cggggcccactgggcaggtgCtggcactggcctccatggtc	16	14	0	0	rs3205933	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr3:195475799C>T	ENST00000346145.4	-	23	3339	c.3300G>A	c.(3298-3300)caG>caA	p.Q1100Q	MUC4_ENST00000349607.4_Silent_p.Q1049Q|MUC4_ENST00000463781.3_Silent_p.Q5336Q|MUC4_ENST00000475231.1_Silent_p.Q5284Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2093					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)		TGGGCAGGTGCTGGCACTGGC	0.652													.|||	266	0.053115	0.0151	0.072	5008	,	,		26136	0.001		0.1382	False		,,,				2504	0.0573				p.Q5336Q		Atlas-SNP	.											MUC4_ENST00000463781,rectum,carcinoma,0,3	MUC4	1505	3	0			c.G16008A						scavenged	.	C	,,	128,4278		0,128,2075	57	54	55		3300,16008,3147	3.2	1	3	dbSNP_105	55	1093,7507		7,1079,3214	no	coding-synonymous,coding-synonymous,coding-synonymous	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	,,	7,1207,5289	TT,TC,CC		12.7093,2.9051,9.388	,,	1100/1177,5336/5413,1049/1126	195475799	1221,11785	2203	4300	6503	SO:0001819	synonymous_variant	4585	exon24			CAGGTGCTGGCAC	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3300G>A	3.37:g.195475799C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	65	3	0.0461538	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																			C|0.917;T|0.083	0.083	strong		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195475799	C	T	195475799	2	4	1	1	0	0	0	0	0	0	0	1	9978	796	28	2		2	MUC4	3	195475799	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	22153169	195475799	2546631	70	70										
GAK	2580	hgsc.bcm.edu	37	chr4	843695	843695	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctcaccttgtcggggtgcacAgccagcaccgcgcggcgata	13	15	1	0	rs76111882|rs8093	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:843695A>G	ENST00000314167.4	-	27	3929	c.3819T>C	c.(3817-3819)gcT>gcC	p.A1273A	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.A1194A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1273	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGGGGTGCACAGCCAGCACCG	0.726													a|||	4010	0.800719	0.8918	0.6369	5008	,	,		11851	0.877		0.671	False		,,,				2504	0.8487				p.A1273A		Atlas-SNP	.											.	GAK	104	.	0			c.T3819C						PASS	.	G		3856,542		1696,464,39	17	18	18		3819	-9.1	0.1	4	dbSNP_52	18	5883,2711		2028,1827,442	no	coding-synonymous	GAK	NM_005255.2		3724,2291,481	GG,GA,AA		31.5453,12.3238,25.0385		1273/1312	843695	9739,3253	2199	4297	6496	SO:0001819	synonymous_variant	2580	exon27			GTGCACAGCCAGC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3819T>C	4.37:g.843695A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_005255	Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	CCDS3340.1	1636	0.7490842490842491	420	0.8536585365853658	226	0.6243093922651933	484	0.8461538461538461	506	0.6675461741424802	a	0.556	-0.847528	0.02651	0.876762	0.684547	ENSG00000178950	ENST00000511980	.	.	.	4.56	-9.13	0.00704	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999880066	.	.	.	.	.	.	T	0.16512	-1.0400	3	.	.	.	-19.8857	2.0039	0.03473	0.429:0.2136:0.2148:0.1425	rs8093;rs1134910;rs3197278;rs3816672;rs17359324;rs60405968;rs8093	.	.	.	P	429	.	.	L	-	2	0	GAK	833695	0.000000	0.05858	0.094000	0.20943	0.014000	0.08584	-4.755000	0.00190	-2.434000	0.00554	-1.578000	0.00866	CTG	A|0.228;G|0.772	0.772	strong		0.726	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		G	843695	A	G	843695	2	3	1	1	0	0	0	0	0	0	0	1	6195	175	7	3		3	GAK	4	843695	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10		843695	190310581	71	71										
WHSC1	7468	hgsc.bcm.edu	37	chr4	1957912	1957912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggatcggaagagtcttcaaaAacggtacggagatattcaga	12	6	3	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:1957912A>C	ENST00000382895.3	+	17	3309	c.2878A>C	c.(2878-2880)Aac>Cac	p.N960H	WHSC1_ENST00000382892.2_Missense_Mutation_p.N960H|WHSC1_ENST00000382888.3_Missense_Mutation_p.N308H|WHSC1_ENST00000382891.5_Missense_Mutation_p.N960H|WHSC1_ENST00000508803.1_Missense_Mutation_p.N960H|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	960					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGTCTTCAAAAACGGTACGGA	0.458			T	IGH@	MM																																p.N960H		Atlas-SNP	.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1	180	.	0			c.A2878C						PASS	.						54	64	61					4																	1957912		2199	4300	6499	SO:0001583	missense	7468	exon15			TTCAAAAACGGTA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2878A>C	4.37:g.1957912A>C	ENSP00000372351:p.Asn960His	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	18	6	0.333333	NM_133335	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.80|14.80	2.643251|2.643251	0.47153|0.47153	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000514329|ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D|T;T;T;T;T	0.98105|0.70749	-4.72|-0.51;-0.51;-0.51;-0.51;-0.51	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.56093|0.56093	0.1962|0.1962	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25850	.|0.005;0.136	.|B;B	.|0.22753	.|0.006;0.041	T|T	0.57505|0.57505	-0.7800|-0.7800	7|10	0.87932|0.62326	D|D	0|0.03	.|.	15.4756|15.4756	0.75478|0.75478	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|308;960	.|A2A2T2;O96028	.|.;NSD2_HUMAN	T|H	283|960;960;960;960;308	ENSP00000425094:K283T|ENSP00000423972:N960H;ENSP00000372347:N960H;ENSP00000372348:N960H;ENSP00000372351:N960H;ENSP00000372344:N308H	ENSP00000425094:K283T|ENSP00000372344:N308H	K|N	+|+	2|1	0|0	WHSC1|WHSC1	1927710|1927710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.838000|5.838000	0.69388|0.69388	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	AAA|AAC	.	.	none		0.458	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		C	1957912	A	C	1957912	3	2	1	1	0	0	0	0	1	0	0	0	17359	14	1	5	3008	5	WHSC1	4	1957912	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1114217	1957912	189196364	72	72										
TBC1D14	57533	hgsc.bcm.edu	37	chr4	7008366	7008366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	catcttttgacagatgctggTttttcagcagcagacagaga	10	8	2	4			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:7008366T>C	ENST00000409757.4	+	9	1483	c.1359T>C	c.(1357-1359)ggT>ggC	p.G453G	TBC1D14_ENST00000446947.2_Silent_p.G66G|TBC1D14_ENST00000448507.1_Silent_p.G453G|TBC1D14_ENST00000451522.2_Silent_p.G173G|TBC1D14_ENST00000410031.1_Silent_p.G225G	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	453	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CAGATGCTGGTTTTTCAGCAG	0.403																																					p.G453G		Atlas-SNP	.											.	TBC1D14	110	.	0			c.T1359C						PASS	.						90	89	90					4																	7008366		2203	4300	6503	SO:0001819	synonymous_variant	57533	exon9			TGCTGGTTTTTCA	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1359T>C	4.37:g.7008366T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	125	26	0.208	NM_001113361	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	CCDS3394.2																																																																																			.	.	none		0.403	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		C	7008366	T	C	7008366	2	2	1	1	0	0	0	0	0	0	0	1	15600	1712	60	2		2	TBC1D14	4	7008366	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5050454	7008366	184145910	73	73										
SLIT2	9353	hgsc.bcm.edu	37	chr4	20619095	20619095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acctgcttgcccatcaatgcGttctcctacagctgtaagtg	8	13	2	0	rs61746361	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:20619095G>A	ENST00000504154.1	+	36	4422	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	SLIT2_ENST00000503823.1_Silent_p.A1382A|SLIT2_ENST00000273739.5_Silent_p.A1403A|SLIT2_ENST00000503837.1_Silent_p.A1386A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1390					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCATCAATGCGTTCTCCTACA	0.522													G|||	22	0.00439297	0.0166	0.0	5008	,	,		16502	0.0		0.0	False		,,,				2504	0.0				p.A1390A		Atlas-SNP	.											.	SLIT2	290	.	0			c.G4170A						PASS	.	G		54,4352	54.9+/-90.9	0,54,2149	106	92	97		4170	-11.8	0	4	dbSNP_129	97	0,8600		0,0,4300	no	coding-synonymous	SLIT2	NM_004787.1		0,54,6449	AA,AG,GG		0.0,1.2256,0.4152		1390/1530	20619095	54,12952	2203	4300	6503	SO:0001819	synonymous_variant	9353	exon36			CAATGCGTTCTCC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4170G>A	4.37:g.20619095G>A		Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	261	54	0.206897	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																			G|0.996;A|0.004	0.004	strong		0.522	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20619095	G	A	20619095	2	1	1	1	0	0	0	0	0	0	0	1	14740	1132	40	1		1	SLIT2	4	20619095	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	13610729	20619095	170535181	74	74										
SEL1L3	23231	hgsc.bcm.edu	37	chr4	25783964	25783964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tttcttctgcttttaaccagTactttgctgctttggcgtaa	7	9	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:25783964T>A	ENST00000399878.3	-	15	2479	c.2357A>T	c.(2356-2358)tAc>tTc	p.Y786F	SEL1L3_ENST00000502949.1_Missense_Mutation_p.Y633F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.Y751F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	786						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTTAACCAGTACTTTGCTGC	0.433																																					p.Y786F		Atlas-SNP	.											SEL1L3,NS,carcinoma,+1,2	SEL1L3	62	2	0			c.A2357T						scavenged	.						207	190	195					4																	25783964		1870	4113	5983	SO:0001583	missense	23231	exon15			AACCAGTACTTTG	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2357A>T	4.37:g.25783964T>A	ENSP00000382767:p.Tyr786Phe	Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	175	45	0.257143	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316857	0.81469	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55930	0.49;0.49;0.49	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);	0.414434	0.25291	N	0.031738	T	0.60573	0.2279	L	0.27053	0.805	0.43103	D	0.99479	P;D	0.67145	0.924;0.996	P;D	0.67725	0.652;0.953	T	0.65274	-0.6208	10	0.72032	D	0.01	-18.4383	15.9017	0.79384	0.0:0.0:0.0:1.0	.	193;786	B4DTH5;Q68CR1	.;SE1L3_HUMAN	F	786;751;633	ENSP00000382767:Y786F;ENSP00000264868:Y751F;ENSP00000425438:Y633F	ENSP00000264868:Y751F	Y	-	2	0	SEL1L3	25393062	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.721000	0.61951	2.153000	0.67306	0.460000	0.39030	TAC	.	.	none		0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		A	25783964	T	A	25783964	3	1	1	1	0	0	0	0	1	0	0	0	14012	1638	57	5	1081	5	SEL1L3	4	25783964	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5164869	25783964	165370312	75	75										
PCDH7	5099	hgsc.bcm.edu	37	chr4	30723952	30723952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cctcatcaccgacgtgaacgAcaacagcccccgcttcgaga	8	17	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:30723952A>C	ENST00000361762.2	+	1	1916	c.908A>C	c.(907-909)gAc>gCc	p.D303A	PCDH7_ENST00000543491.1_Missense_Mutation_p.D303A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	303	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACGTGAACGACAACAGCCCC	0.682																																					p.D303A		Atlas-SNP	.											.	PCDH7	215	.	0			c.A908C						PASS	.						11	14	13					4																	30723952		2196	4284	6480	SO:0001583	missense	5099	exon1			TGAACGACAACAG	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.908A>C	4.37:g.30723952A>C	ENSP00000355243:p.Asp303Ala	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	64	6	0.09375	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270608	0.80469	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.71579	-0.58;-0.58	5.18	5.18	0.71444	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88250	0.6386	H	0.94964	3.605	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91602	0.5296	9	0.87932	D	0	.	15.0142	0.71570	1.0:0.0:0.0:0.0	.	303;303	F5GWJ1;O60245	.;PCDH7_HUMAN	A	303	ENSP00000355243:D303A;ENSP00000441802:D303A	ENSP00000355243:D303A	D	+	2	0	PCDH7	30333050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.322000	0.96357	1.934000	0.56057	0.459000	0.35465	GAC	.	.	none		0.682	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		C	30723952	A	C	30723952	3	2	1	1	0	0	0	0	1	0	0	0	11516	275	10	5	910	5	PCDH7	4	30723952	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	4939988	30723952	160430324	76	76										
GABRA4	2557	hgsc.bcm.edu	37	chr4	46995366	46995366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gagaactcaccaaaccgccaGgcacaggaagcgcaggaggg	14	12	1	1	rs2229940	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:46995366G>T	ENST00000264318.3	-	1	1058	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	26			L -> M (in dbSNP:rs2229940).		central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L26M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAAACCGCCAGGCACAGGAAG	0.607													G|||	1506	0.300719	0.2526	0.2968	5008	,	,		16875	0.3879		0.3668	False		,,,				2504	0.2106				p.L26M	Ovarian(6;283 369 8234 12290 33402)	Atlas-SNP	.											GABRA4,NS,carcinoma,0,1	GABRA4	129	1	1	Substitution - Missense(1)	prostate(1)	c.C76A						scavenged	.	G	MET/LEU,,	1132,3274	403.5+/-332.8	127,878,1198	109	105	106		76,,	3	1	4	dbSNP_98	106	3154,5446	479.1+/-370.0	599,1956,1745	yes	missense,intron,intron	GABRA4	NM_000809.3,NM_001204266.1,NM_001204267.1	15,,	726,2834,2943	TT,TG,GG		36.6744,25.6922,32.954	probably-damaging,,	26/555,,	46995366	4286,8720	2203	4300	6503	SO:0001583	missense	2557	exon1			CCGCCAGGCACAG		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.76C>A	4.37:g.46995366G>T	ENSP00000264318:p.Leu26Met	Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	220	5	0.0227273	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	742	0.33974358974358976	138	0.2804878048780488	107	0.2955801104972376	214	0.3741258741258741	283	0.3733509234828496	G	13.24	2.178732	0.38511	0.256922	0.366744	ENSG00000109158	ENST00000264318	D	0.81996	-1.56	4.72	2.98	0.34508	.	0.473208	0.19701	N	0.108022	T	0.00012	0.0000	N	0.24115	0.695	0.35598	P	0.19235199999999997	B	0.23806	0.091	B	0.29524	0.103	T	0.13045	-1.0524	9	0.49607	T	0.09	.	6.8007	0.23750	0.2113:0.0:0.7887:0.0	rs2229940;rs2280071;rs16859834;rs52790560;rs2229940	26	P48169	GBRA4_HUMAN	M	26	ENSP00000264318:L26M	ENSP00000264318:L26M	L	-	1	2	GABRA4	46690123	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.533000	0.45667	0.588000	0.29660	0.585000	0.79938	CTG	G|0.672;T|0.328	0.328	strong		0.607	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46995366	G	T	46995366	3	4	1	1	0	0	0	0	1	0	0	0	6163	991	35	4	1624	4	GABRA4	4	46995366	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	16271414	46995366	144158910	77	77										
REST	5978	hgsc.bcm.edu	37	chr4	57777675	57777676	+	Frame_Shift_Ins	INS	-	-	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcagacagaaaaaacaattINSatgttcagcatgttagaact							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:57777675_57777676insA	ENST00000309042.7	+	2	1185_1186	c.871_872insA	c.(871-873)tatfs	p.Y291fs	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	291					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAAAACAATTATGTTCAGCAT	0.351																																					p.Y291_V292delinsX		Pindel,Atlas-Indel	.											.	REST	104	.	0			c.871_872insA						PASS	.																																			SO:0001589	frameshift_variant	5978	exon2			.	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.872dupA	4.37:g.57777676_57777676dupA	ENSP00000311816:p.Tyr291fs	Somatic	97	.	.		WXS	Illumina HiSeq	Phase_I	89	14	0.157	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Frame_Shift_Ins	INS	ENST00000309042.7	37	CCDS3509.1																																																																																			.	.	none		0.351	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		A	57777676	-	A	57777675	7	5	1	1	0	1	1	0	0	0	0	0	13234	1754	61	0	873	0	REST	4	57777675	Frame_Shift_Ins	INS	-	TCGA-FA-8693-01A-11D-2397-10	10782309	57777675	133376601	78	78										
UBA6	55236	hgsc.bcm.edu	37	chr4	68514904	68514904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gggcagtccaagagagccaaTgcacaatgtcagcatttaca	10	10	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:68514904T>C	ENST00000322244.5	-	14	1189	c.1130A>G	c.(1129-1131)cAt>cGt	p.H377R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	377					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGAGAGCCAATGCACAATGTC	0.388																																					p.H377R		Atlas-SNP	.											.	UBA6	98	.	0			c.A1130G						PASS	.						94	95	95					4																	68514904		2203	4300	6503	SO:0001583	missense	55236	exon14			AGCCAATGCACAA	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1130A>G	4.37:g.68514904T>C	ENSP00000313454:p.His377Arg	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	197	55	0.279188	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.995347	0.00435	.	.	ENSG00000033178	ENST00000322244	T	0.54866	0.55	5.08	-3.06	0.05379	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.635180	0.16937	N	0.193439	T	0.13500	0.0327	N	0.00272	-1.73	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.02654	T	1	-0.5102	14.018	0.64536	0.0:0.1147:0.0:0.8853	.	377	A0AVT1	UBA6_HUMAN	R	377	ENSP00000313454:H377R	ENSP00000313454:H377R	H	-	2	0	UBA6	68197499	0.396000	0.25262	0.545000	0.28153	0.083000	0.17756	0.448000	0.21726	-0.758000	0.04690	-0.425000	0.05940	CAT	.	.	none		0.388	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		C	68514904	T	C	68514904	3	2	1	1	0	0	0	0	1	0	0	0	16829	1464	51	2	2108	2	UBA6	4	68514904	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	10737229	68514904	122639372	79	79										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79399181	79399181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atctactgggttaacgagagCgctggttttctgtttgcacc	11	9	2	1	rs371145937		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:79399181C>T	ENST00000264895.6	+	55	8504	c.8064C>T	c.(8062-8064)agC>agT	p.S2688S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2684	Calx-beta 2.				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						TTAACGAGAGCGCTGGTTTTC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		21744	0.0		0.001	False		,,,				2504	0.0				p.S2688S		Atlas-SNP	.											.	FRAS1	779	.	0			c.C8064T						PASS	.	C		1,3763		0,1,1881	79	79	79		8064	-9	0.8	4		79	0,8244		0,0,4122	no	coding-synonymous	FRAS1	NM_025074.6		0,1,6003	TT,TC,CC		0.0,0.0266,0.0083		2688/4013	79399181	1,12007	1882	4122	6004	SO:0001819	synonymous_variant	80144	exon55			CGAGAGCGCTGGT	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.8064C>T	4.37:g.79399181C>T		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	322	80	0.248447	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.265514	0.01433	2.66E-4	0.0	ENSG00000138759	ENST00000512123	.	.	.	5.69	-8.98	0.00754	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71300	-0.4634	4	.	.	.	.	17.9308	0.88996	0.0:0.524:0.0:0.476	.	.	.	.	C	917	.	.	R	+	1	0	FRAS1	79618205	0.024000	0.19004	0.770000	0.31555	0.041000	0.13682	-0.890000	0.04140	-1.654000	0.01499	-1.152000	0.01820	CGC	.	.	weak		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79399181	C	T	79399181	2	4	1	1	0	0	0	0	0	0	0	1	6042	767	27	1		1	FRAS1	4	79399181	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	10884277	79399181	111755095	80	80										
PDHA2	5161	hgsc.bcm.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	13	13	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																					p.G105D		Atlas-SNP	.											PDHA2,NS,carcinoma,0,1	PDHA2	118	1	0			c.G314A						scavenged	.						129	113	119					4																	96761615		2203	4300	6503	SO:0001583	missense	5161	exon1			AGGCCGGCATAAA		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	436	7	0.016055	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC	.	.	none		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			A	96761615	G	A	96761615	3	1	1	1	0	0	0	0	1	0	0	0	11665	1203	42	2	316	2	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	17362434	96761615	94392661	81	81										
TET2	54790	hgsc.bcm.edu	37	chr4	106196908	106196908	+	Frame_Shift_Del	DEL	A	A	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccacccaatctgagcaatccAaacatggactataaaaatgg							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:106196908delA	ENST00000540549.1	+	11	6101	c.5241delA	c.(5239-5241)ccafs	p.P1747fs	TET2_ENST00000513237.1_Frame_Shift_Del_p.P1768fs|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Frame_Shift_Del_p.P1747fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1747					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGAGCAATCCAAACATGGACT	0.458			"Mis N, F"		MDS																																p.P1747fs		Atlas-Indel	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	0			c.5240delC						PASS	.						37	29	31					4																	106196908		692	1591	2283	SO:0001589	frameshift_variant	54790	exon11			.	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5241delA	4.37:g.106196908delA	ENSP00000442788:p.Pro1747fs	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	110	18	0.163636	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	CCDS47120.1																																																																																			.	.	none		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		-	106196908	A	-	106196908	7	5	1	1	0	1	0	1	0	0	0	0	15767	117	5	0	5364	0	TET2	4	106196908	Frame_Shift_Del	DEL	A	TCGA-FA-8693-01A-11D-2397-10	9435293	106196908	84957368	82	82										
ENPEP	2028	hgsc.bcm.edu	37	chr4	111397599	111397599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcggagagagagggctctaAgagatactgcattcaaacga	13	7	2	3	rs564550794		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:111397599A>C	ENST00000265162.5	+	1	371	c.29A>C	c.(28-30)aAg>aCg	p.K10T		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	10					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAGGGCTCTAAGAGATACTGC	0.438																																					p.K10T		Atlas-SNP	.											.	ENPEP	149	.	0			c.A29C						PASS	.						171	163	166					4																	111397599		2203	4300	6503	SO:0001583	missense	2028	exon1			GCTCTAAGAGATA	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.29A>C	4.37:g.111397599A>C	ENSP00000265162:p.Lys10Thr	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	212	31	0.146226	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679199	0.88542	.	.	ENSG00000138792	ENST00000265162	T	0.01347	4.99	5.42	3.04	0.35103	.	0.352416	0.31279	N	0.007939	T	0.02848	0.0085	M	0.66939	2.045	0.48040	D	0.99957	D	0.57899	0.981	P	0.46629	0.522	T	0.55685	-0.8102	10	0.51188	T	0.08	.	9.0788	0.36538	0.8513:0.0:0.1487:0.0	.	10	Q07075	AMPE_HUMAN	T	10	ENSP00000265162:K10T	ENSP00000265162:K10T	K	+	2	0	ENPEP	111617048	1.000000	0.71417	0.278000	0.24718	0.723000	0.41478	4.877000	0.63086	0.912000	0.36772	0.260000	0.18958	AAG	.	.	none		0.438	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			C	111397599	A	C	111397599	3	2	1	1	0	0	0	0	1	0	0	0	5128	72	3	5	31	5	ENPEP	4	111397599	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	5200691	111397599	79756677	83	83										
TRPC3	7222	hgsc.bcm.edu	37	chr4	122846198	122846198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgacttcatacttaatggcaAgtttgacacgacttaatgaa	7	7	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:122846198A>C	ENST00000379645.3	-	3	1224	c.1151T>G	c.(1150-1152)cTt>cGt	p.L384R	TRPC3_ENST00000264811.5_Missense_Mutation_p.L311R|TRPC3_ENST00000513531.1_Missense_Mutation_p.L311R	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	299					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTAATGGCAAGTTTGACACG	0.418																																					p.L384R		Atlas-SNP	.											.	TRPC3	201	.	0			c.T1151G						PASS	.						208	185	192					4																	122846198		2203	4300	6503	SO:0001583	missense	7222	exon3			ATGGCAAGTTTGA	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1151T>G	4.37:g.122846198A>C	ENSP00000368966:p.Leu384Arg	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	212	11	0.0518868	NM_001130698	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923161	0.92319	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.71103	-0.54;-0.54;-0.54	5.92	5.92	0.95590	.	0.141093	0.39341	N	0.001390	D	0.85682	0.5753	M	0.87456	2.885	0.30473	N	0.773102	P;D;P	0.71674	0.852;0.998;0.911	P;D;P	0.67725	0.736;0.953;0.821	D	0.86427	0.1758	10	0.87932	D	0	-16.0118	16.3526	0.83220	1.0:0.0:0.0:0.0	.	299;311;384	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	R	311;384;311	ENSP00000264811:L311R;ENSP00000368966:L384R;ENSP00000426899:L311R	ENSP00000264811:L311R	L	-	2	0	TRPC3	123065648	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	9.262000	0.95591	2.255000	0.74692	0.533000	0.62120	CTT	.	.	none		0.418	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		C	122846198	A	C	122846198	3	2	1	1	0	0	0	0	1	0	0	0	16576	72	3	5	1654	5	TRPC3	4	122846198	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	11448599	122846198	68308078	84	84										
ABCE1	6059	hgsc.bcm.edu	37	chr4	146033391	146033391	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tttttttttttttttcatagTttcatgtttgatgagccttc	5	5	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:146033391T>C	ENST00000296577.4	+	9	1226	c.711T>C	c.(709-711)atT>atC	p.I237I	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	237	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTTTCATAGTTTCATGTTTG	0.313																																					p.I237I		Atlas-SNP	.											.	ABCE1	47	.	0			c.T711C						PASS	.						30	29	29					4																	146033391		2202	4297	6499	SO:0001630	splice_region_variant	6059	exon9			TCATAGTTTCATG	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.711-1T>C	4.37:g.146033391T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	101	12	0.118812	NM_002940	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	ENST00000296577.4	37	CCDS34071.1																																																																																			.	.	none		0.313	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940	Silent	C	146033391	T	C	146033391	5	2	1	1	0	0	0	0	0	0	1	0	64	1739	60	2	741	2	ABCE1	4	146033391	Splice_Site	SNP	T	TCGA-FA-8693-01A-11D-2397-10	23187193	146033391	45120885	85	85										
GRIA2	2891	hgsc.bcm.edu	37	chr4	158254497	158254497	+	Frame_Shift_Del	DEL	C	C	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tggagctcaaaactaatgggCcccggaaggtaaatccttag							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:158254497delC	ENST00000264426.9	+	8	1426	c.1147delC	c.(1147-1149)cccfs	p.P383fs	GRIA2_ENST00000296526.7_Frame_Shift_Del_p.P383fs|GRIA2_ENST00000449365.1_Frame_Shift_Del_p.P336fs|GRIA2_ENST00000507898.1_Frame_Shift_Del_p.P336fs|GRIA2_ENST00000393815.2_Frame_Shift_Del_p.P336fs	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	383					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AACTAATGGGCCCCGGAAGGT	0.398																																					p.G382fs		Atlas-Indel	.											.	GRIA2	358	.	0			c.1146delG						PASS	.						34	36	35					4																	158254497		2198	4294	6492	SO:0001589	frameshift_variant	2891	exon8			.		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1147delC	4.37:g.158254497delC	ENSP00000264426:p.Pro383fs	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	68	11	0.161765	NM_001083619	A8MT92|I6L997|Q96FP6	Frame_Shift_Del	DEL	ENST00000264426.9	37	CCDS43274.1																																																																																			.	.	none		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			-	158254497	C	-	158254497	7	5	1	1	0	1	0	1	0	0	0	0	6768	739	26	0	1177	0	GRIA2	4	158254497	Frame_Shift_Del	DEL	C	TCGA-FA-8693-01A-11D-2397-10	12221106	158254497	32899779	86	86										
MTNR1A	4543	hgsc.bcm.edu	37	chr4	187455075	187455075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aactggccacaaacagccacTctgggatcctaggcaccatg	9	14	1	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:187455075T>C	ENST00000307161.5	-	2	1022	c.821A>G	c.(820-822)gAg>gGg	p.E274G	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	274					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AAACAGCCACTCTGGGATCCT	0.502																																					p.E274G		Atlas-SNP	.											.	MTNR1A	46	.	0			c.A821G						PASS	.						73	79	77					4																	187455075		2203	4300	6503	SO:0001583	missense	4543	exon2			AGCCACTCTGGGA		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.821A>G	4.37:g.187455075T>C	ENSP00000302811:p.Glu274Gly	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	137	14	0.10219	NM_005958	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224502	0.79576	.	.	ENSG00000168412	ENST00000307161	T	0.73047	-0.71	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.049677	0.85682	D	0.000000	T	0.77398	0.4124	M	0.89353	3.025	0.80722	D	1	B	0.29909	0.261	B	0.36378	0.223	T	0.76963	-0.2764	10	0.33940	T	0.23	-23.224	14.6218	0.68592	0.0:0.0:0.0:1.0	.	274	P48039	MTR1A_HUMAN	G	274	ENSP00000302811:E274G	ENSP00000302811:E274G	E	-	2	0	MTNR1A	187692069	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.145000	0.71769	1.860000	0.53959	0.533000	0.62120	GAG	.	.	none		0.502	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			C	187455075	T	C	187455075	3	2	1	1	0	0	0	0	1	0	0	0	9951	1551	54	3	235	3	MTNR1A	4	187455075	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	29200578	187455075	3699201	87	87										
FRG1	2483	hgsc.bcm.edu	37	chr4	190876224	190876224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtctggctatggaaaatatcTtggtataaattcagatggac	10	5	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr4:190876224T>G	ENST00000226798.4	+	5	572	c.350T>G	c.(349-351)cTt>cGt	p.L117R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	117					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGAAAATATCTTGGTATAAAT	0.353																																					p.L117R		Atlas-SNP	.											FRG1,NS,carcinoma,0,1	FRG1	76	1	0			c.T350G						scavenged	.						62	61	61					4																	190876224		2203	4300	6503	SO:0001583	missense	2483	exon5			AATATCTTGGTAT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.350T>G	4.37:g.190876224T>G	ENSP00000226798:p.Leu117Arg	Somatic	387	0	0		WXS	Illumina HiSeq	Phase_I	444	5	0.0112613	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.991897	0.74703	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.58210	0.91;0.35	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79347	-0.1841	10	0.87932	D	0	-8.6377	11.3071	0.49342	0.0:0.0:0.0:1.0	.	117	Q14331	FRG1_HUMAN	R	117;54	ENSP00000226798:L117R;ENSP00000435943:L54R	ENSP00000226798:L117R	L	+	2	0	FRG1	191113218	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.497000	0.81536	1.599000	0.50093	0.462000	0.41574	CTT	.	.	none		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876224	T	G	190876224	3	3	1	1	0	0	0	0	1	0	0	0	6046	1609	56	5	368	5	FRG1	4	190876224	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	3421149	190876224	278052	88	88										
CDH9	1007	hgsc.bcm.edu	37	chr5	26890585	26890585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atgccaaggagatgattcccGgtcaagggctttcaaagtga	12	8	2	3	rs148731332		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:26890585G>A	ENST00000231021.4	-	8	1514	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	448	Cadherin 4. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GATGATTCCCGGTCAAGGGCT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		14536	0.0		0.001	False		,,,				2504	0.0				p.R448W	Melanoma(8;187 585 15745 40864 52829)	Atlas-SNP	.											CDH9,colon,carcinoma,+1,1	CDH9	305	1	0			c.C1342T						scavenged	.	G	TRP/ARG	0,4406		0,0,2203	110	110	110		1342	3.2	1	5	dbSNP_134	110	2,8598	2.2+/-6.3	1,0,4299	yes	missense	CDH9	NM_016279.3	101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	448/790	26890585	2,13004	2203	4300	6503	SO:0001583	missense	1007	exon8			ATTCCCGGTCAAG	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1342C>T	5.37:g.26890585G>A	ENSP00000231021:p.Arg448Trp	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	163	4	0.0245399	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.62	3.861225	0.71949	0.0	2.33E-4	ENSG00000113100	ENST00000231021	T	0.60299	0.2	5.09	3.21	0.36854	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	H	0.97587	4.035	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88151	0.2851	9	.	.	.	.	12.832	0.57750	0.0:0.0:0.7038:0.2962	.	41;448	B4DFP0;Q9ULB4	.;CADH9_HUMAN	W	448	ENSP00000231021:R448W	.	R	-	1	2	CDH9	26926342	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	1.935000	0.40173	1.138000	0.42230	0.453000	0.30009	CGG	G|1.000;A|0.000	0.000	strong		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26890585	G	A	26890585	3	1	1	1	0	0	0	0	1	0	0	0	3117	1115	39	1	1047	1	CDH9	5	26890585	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10		26890585	154024675	89	89										
TARS	6897	hgsc.bcm.edu	37	chr5	33461355	33461355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctaaacctttctactcgcccGgaaaaattccttggagatat	6	11	1	1	rs2270905	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:33461355G>A	ENST00000265112.3	+	13	1817	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P	TARS_ENST00000455217.2_Silent_p.P535P|TARS_ENST00000414361.2_Silent_p.P381P|TARS_ENST00000502553.1_Silent_p.P502P|TARS_ENST00000541634.1_Silent_p.P398P|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	502					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTACTCGCCCGGAAAAATTCC	0.353													G|||	692	0.138179	0.1256	0.1441	5008	,	,		18644	0.127		0.2356	False		,,,				2504	0.0624				p.P535P		Atlas-SNP	.											TARS,NS,carcinoma,+1,1	TARS	66	1	0			c.G1605A						scavenged	.	G		624,3782	262.5+/-264.9	43,538,1622	85	91	89		1506	-4.8	1	5	dbSNP_100	89	1892,6708	331.8+/-319.8	201,1490,2609	no	coding-synonymous	TARS	NM_152295.3		244,2028,4231	AA,AG,GG		22.0,14.1625,19.3449		502/724	33461355	2516,10490	2203	4300	6503	SO:0001819	synonymous_variant	6897	exon14			TCGCCCGGAAAAA	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1506G>A	5.37:g.33461355G>A		Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001258438	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	CCDS3899.1																																																																																			G|0.816;A|0.184	0.184	strong		0.353	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		A	33461355	G	A	33461355	2	1	1	1	0	0	0	0	0	0	0	1	15556	1103	39	1		1	TARS	5	33461355	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	6570770	33461355	147453905	90	90										
IL7R	3575	hgsc.bcm.edu	37	chr5	35861068	35861068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgaggacccagatgtcaacaTcaccaatctggaatttgaaa	8	9	3	3	rs1494558	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:35861068T>C	ENST00000303115.3	+	2	326	c.197T>C	c.(196-198)aTc>aCc	p.I66T	IL7R_ENST00000343305.4_Missense_Mutation_p.I66T|IL7R_ENST00000511982.1_Missense_Mutation_p.I66T|IL7R_ENST00000506850.1_Missense_Mutation_p.I66T|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	66			T -> I (in T(-)/B(+)/NK(+) SCID; dbSNP:rs1494558). {ECO:0000269|PubMed:15372022, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9843216, ECO:0000269|Ref.5}.		B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.I66T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATGTCAACATCACCAATCTG	0.428			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						C|||	3004	0.59984	0.7625	0.5418	5008	,	,		18968	0.4256		0.6978	False		,,,				2504	0.5				p.I66T		Atlas-SNP	.		Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	IL7R,NS,carcinoma,0,1	IL7R	200	1	1	Substitution - Missense(1)	stomach(1)	c.T197C						scavenged	.	C	THR/ILE	3323,1083	393.5+/-328.9	1254,815,134	199	185	190	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	197	2.2	1	5	dbSNP_88	190	5793,2807	445.1+/-360.9	1936,1921,443	yes	missense	IL7R	NM_002185.2	89	3190,2736,577	CC,CT,TT		32.6395,24.5801,29.9093	possibly-damaging	66/460	35861068	9116,3890	2203	4300	6503	SO:0001583	missense	3575	exon2			TCAACATCACCAA	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.197T>C	5.37:g.35861068T>C	ENSP00000306157:p.Ile66Thr	Somatic	321	2	0.00623053		WXS	Illumina HiSeq	Phase_I	412	6	0.0145631	NM_002185	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	1339	0.6130952380952381	367	0.7459349593495935	208	0.574585635359116	231	0.40384615384615385	533	0.7031662269129287	C	0.016	-1.521583	0.00967	0.754199	0.673605	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.97	2.16	0.27623	.	0.786211	0.12045	N	0.504638	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	7	.	.	.	-20.4536	3.6783	0.08301	0.0777:0.3334:0.3331:0.2558	rs1494558;rs17668036;rs52799522;rs59370393;rs1494558	66	D6RGV2	.	T	66	ENSP00000306157:I66T;ENSP00000345819:I66T;ENSP00000421207:I66T;ENSP00000425309:I66T	.	I	+	2	0	IL7R	35896825	0.993000	0.37304	0.999000	0.59377	0.013000	0.08279	0.337000	0.19841	0.111000	0.17947	-2.304000	0.00258	ATC	T|0.349;C|0.651	0.651	strong		0.428	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			C	35861068	T	C	35861068	3	2	1	1	0	0	0	0	1	0	0	0	7705	1435	50	2	203	2	IL7R	5	35861068	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	2399713	35861068	145054192	91	91										
VCAN	1462	hgsc.bcm.edu	37	chr5	82816658	82816658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaaaggataaagacatcccaAgtttcactgaagatggagca	10	7	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:82816658A>C	ENST00000265077.3	+	7	3098	c.2533A>C	c.(2533-2535)Agt>Cgt	p.S845R	VCAN_ENST00000512590.2_Missense_Mutation_p.S797R|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S845R|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	845	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGACATCCCAAGTTTCACTGA	0.428																																					p.S845R		Atlas-SNP	.											.	VCAN	498	.	0			c.A2533C						PASS	.						105	105	105					5																	82816658		2203	4300	6503	SO:0001583	missense	1462	exon7			ATCCCAAGTTTCA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2533A>C	5.37:g.82816658A>C	ENSP00000265077:p.Ser845Arg	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	84	22	0.261905	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	2.468	-0.322533	0.05350	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.24538	1.85;1.85;1.85	5.76	-2.5	0.06384	.	0.320753	0.31589	N	0.007394	T	0.17023	0.0409	L	0.48362	1.52	0.20926	N	0.999821	B;B	0.12630	0.005;0.006	B;B	0.12156	0.007;0.006	T	0.15037	-1.0451	10	0.44086	T	0.13	.	6.2271	0.20714	0.4327:0.1508:0.4164:0.0	.	845;845	P13611-3;P13611	.;CSPG2_HUMAN	R	845;845;797	ENSP00000265077:S845R;ENSP00000342768:S845R;ENSP00000425959:S797R	ENSP00000265077:S845R	S	+	1	0	VCAN	82852414	0.073000	0.21202	0.880000	0.34516	0.109000	0.19521	0.804000	0.27098	-0.051000	0.13334	0.528000	0.53228	AGT	.	.	none		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82816658	A	C	82816658	3	2	1	1	0	0	0	0	1	0	0	0	17135	72	3	5	2555	5	VCAN	5	82816658	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	46955590	82816658	98098602	92	92										
VCAN	1462	hgsc.bcm.edu	37	chr5	82833506	82833506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aagaatctcagaaaatagccTttgcaagggctacagaagta	9	7	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:82833506T>G	ENST00000265077.3	+	8	5249	c.4684T>G	c.(4684-4686)Ttt>Gtt	p.F1562V	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.F575V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1562	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAAATAGCCTTTGCAAGGGC	0.413																																					p.F1562V		Atlas-SNP	.											.	VCAN	498	.	0			c.T4684G						PASS	.						72	74	73					5																	82833506		2203	4300	6503	SO:0001583	missense	1462	exon8			ATAGCCTTTGCAA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4684T>G	5.37:g.82833506T>G	ENSP00000265077:p.Phe1562Val	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	73	16	0.219178	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	5.696	0.312954	0.10789	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86769	-2.17;-2.17;2.95	5.78	1.85	0.25348	.	0.656922	0.14873	N	0.293408	T	0.81503	0.4836	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.23806	0.091;0.055	B;B	0.19946	0.027;0.012	T	0.64334	-0.6432	10	0.18276	T	0.48	.	6.8329	0.23921	0.2407:0.0:0.2497:0.5096	.	575;1562	P13611-2;P13611	.;CSPG2_HUMAN	V	1562;575;575	ENSP00000265077:F1562V;ENSP00000340062:F575V;ENSP00000426251:F575V	ENSP00000265077:F1562V	F	+	1	0	VCAN	82869262	0.055000	0.20627	0.001000	0.08648	0.056000	0.15407	1.323000	0.33701	0.436000	0.26393	0.533000	0.62120	TTT	.	.	none		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82833506	T	G	82833506	3	3	1	1	0	0	0	0	1	0	0	0	17135	1609	56	5	4710	5	VCAN	5	82833506	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	16848	82833506	98081754	93	93										
GPR98	84059	hgsc.bcm.edu	37	chr5	89948249	89948249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgctttgcagcctgggcaggAgttctatgaaacttcaggaa	12	8	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:89948249A>T	ENST00000405460.2	+	19	3599	c.3503A>T	c.(3502-3504)gAg>gTg	p.E1168V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1168	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGGGCAGGAGTTCTATGAA	0.388																																					p.E1168V		Atlas-SNP	.											.	GPR98	605	.	0			c.A3503T						PASS	.						134	128	130					5																	89948249		1908	4144	6052	SO:0001583	missense	84059	exon19			GGCAGGAGTTCTA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3503A>T	5.37:g.89948249A>T	ENSP00000384582:p.Glu1168Val	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	153	31	0.202614	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	33	5.230671	0.95207	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29917	1.55	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.45789	-0.9237	10	0.87932	D	0	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	1168	Q8WXG9	GPR98_HUMAN	V	1168	ENSP00000384582:E1168V	ENSP00000296619:E1168V	E	+	2	0	GPR98	89984005	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.078000	0.94023	2.330000	0.79161	0.477000	0.44152	GAG	.	.	none		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89948249	A	T	89948249	3	4	1	1	0	0	0	0	1	0	0	0	6721	304	11	5	3577	5	GPR98	5	89948249	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	7114743	89948249	90967011	94	94										
MAN2A1	4124	hgsc.bcm.edu	37	chr5	109202627	109202627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tccttgatgcattcacctccCggcactcagaatataagtga	7	12	2	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:109202627C>T	ENST00000261483.4	+	22	4415	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1121					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.P1121P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATTCACCTCCCGGCACTCAGA	0.373																																					p.P1121P		Atlas-SNP	.											MAN2A1,NS,NS,0,1	MAN2A1	136	1	1	Substitution - coding silent(1)	pancreas(1)	c.C3363T						scavenged	.						123	113	116					5																	109202627		2202	4300	6502	SO:0001819	synonymous_variant	4124	exon22			ACCTCCCGGCACT		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3363C>T	5.37:g.109202627C>T		Somatic	547	2	0.00365631		WXS	Illumina HiSeq	Phase_I	552	7	0.0126812	NM_002372	Q16767	Silent	SNP	ENST00000261483.4	37	CCDS34209.1																																																																																			.	.	none		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			T	109202627	C	T	109202627	2	4	1	1	0	0	0	0	0	0	0	1	9214	639	23	1		1	MAN2A1	5	109202627	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	19254378	109202627	71712633	95	95										
MCC	4163	hgsc.bcm.edu	37	chr5	112406832	112406832	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agcgctgtggcattggattcGtattttcccaccagcatgct	10	11	0	0	rs140633829		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:112406832G>T	ENST00000302475.4	-	10	1877	c.1314C>A	c.(1312-1314)taC>taA	p.Y438*	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Nonsense_Mutation_p.Y375*|MCC_ENST00000408903.3_Nonsense_Mutation_p.Y628*	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	438					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CATTGGATTCGTATTTTCCCA	0.512																																					p.Y628X		Atlas-SNP	.											MCC_ENST00000408903,NS,carcinoma,-1,2	MCC	234	2	0			c.C1884A						scavenged	.						267	214	232					5																	112406832		2202	4300	6502	SO:0001587	stop_gained	4163	exon12			GGATTCGTATTTT		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1314C>A	5.37:g.112406832G>T	ENSP00000305617:p.Tyr438*	Somatic	308	1	0.00324675		WXS	Illumina HiSeq	Phase_I	364	4	0.010989	NM_001085377	D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	41	9.122106	0.99073	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	.	.	.	5.15	-1.8	0.07907	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-20.1983	13.186	0.59682	0.6038:0.0:0.3962:0.0	.	.	.	.	X	438;375;628	.	ENSP00000305617:Y438X	Y	-	3	2	MCC	112434731	0.441000	0.25626	0.971000	0.41717	0.979000	0.70002	-0.312000	0.08113	-0.313000	0.08728	0.591000	0.81541	TAC	G|1.000;A|0.000	.	alt		0.512	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		T	112406832	G	T	112406832	4	4	1	1	0	0	0	0	0	1	0	0	9373	1140	40	4	1207	4	MCC	5	112406832	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3204205	112406832	68508428	96	96										
IL3	3562	hgsc.bcm.edu	37	chr5	131396478	131396478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctcccatgacccagacaacgCccttgaagacaagctgggtt	9	14	0	4	rs40401	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:131396478C>T	ENST00000296870.2	+	1	257	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	27			P -> S (in dbSNP:rs40401). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2544122, ECO:0000269|Ref.4}.		cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCAGACAACGCCCTTGAAGAC	0.537													T|||	2101	0.419529	0.5703	0.3156	5008	,	,		21475	0.5714		0.2515	False		,,,				2504	0.3057				p.P27S		Atlas-SNP	.											IL3,NS,carcinoma,0,1	IL3	28	1	0			c.C79T						scavenged	.	T	SER/PRO	2268,2138	578.4+/-384.7	588,1092,523	100	97	98		79	1.2	0	5	dbSNP_76	98	1951,6649	725.2+/-406.5	226,1499,2575	yes	missense	IL3	NM_000588.3	74	814,2591,3098	TT,TC,CC		22.686,48.5247,32.4389	benign	27/153	131396478	4219,8787	2203	4300	6503	SO:0001583	missense	3562	exon1			ACAACGCCCTTGA	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.79C>T	5.37:g.131396478C>T	ENSP00000296870:p.Pro27Ser	Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	207	5	0.0241546	NM_000588	Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	CCDS4149.1	911	0.41712454212454214	291	0.5914634146341463	100	0.27624309392265195	319	0.5576923076923077	201	0.26517150395778366	T	0.343	-0.949559	0.02304	0.514753	0.22686	ENSG00000164399	ENST00000296870	T	0.26373	1.74	3.24	1.18	0.20946	.	1.255760	0.05782	N	0.608778	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.18968	0.032	B	0.20577	0.03	T	0.43766	-0.9371	9	0.07644	T	0.81	-2.5392	6.6006	0.22699	0.0:0.6449:0.2355:0.1196	rs40401;rs657709;rs3181636;rs52803049;rs59548569;rs40401	27	P08700	IL3_HUMAN	S	27	ENSP00000296870:P27S	ENSP00000296870:P27S	P	+	1	0	IL3	131424377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.640000	0.00108	0.009000	0.14813	-0.834000	0.03071	CCC	C|0.616;N|0.000	.	strong		0.537	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		T	131396478	C	T	131396478	3	4	1	1	0	0	0	0	1	0	0	0	7689	739	26	2	81	2	IL3	5	131396478	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	18989646	131396478	49518782	97	97										
PCDHA7	56141	hgsc.bcm.edu	37	chr5	140215022	140215022	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acaatgctccacagttgactCtcacttccctgtctctccct	4	17	2	1	rs150063888		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:140215022C>A	ENST00000525929.1	+	1	1054	c.1054C>A	c.(1054-1056)Ctc>Atc	p.L352I	PCDHA7_ENST00000378125.3_Missense_Mutation_p.L352I|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L352F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTGACTCTCACTTCCCT	0.507																																					p.L352I	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											PCDHA7,shoulder,malignant_melanoma,0,1	PCDHA7	367	1	1	Substitution - Missense(1)	skin(1)	c.C1054A						scavenged	.						181	157	165					5																	140215022		2203	4299	6502	SO:0001583	missense	56141	exon1			TTGACTCTCACTT	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1054C>A	5.37:g.140215022C>A	ENSP00000436426:p.Leu352Ile	Somatic	490	4	0.00816326		WXS	Illumina HiSeq	Phase_I	577	9	0.0155979	NM_031852	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912035	0.02415	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.61274	0.12;0.26	4.04	-1.41	0.08941	Cadherin (2);Cadherin-like (1);	0.343115	0.15286	N	0.270413	T	0.21347	0.0514	N	0.03268	-0.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.001	T	0.19877	-1.0292	10	0.05833	T	0.94	.	2.2003	0.03921	0.3512:0.1209:0.4122:0.1158	.	352;352	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	I	352	ENSP00000436426:L352I;ENSP00000367365:L352I	ENSP00000367365:L352I	L	+	1	0	PCDHA7	140195206	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-3.197000	0.00562	-0.656000	0.05380	0.305000	0.20034	CTC	.	.	alt		0.507	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215022	C	A	140215022	3	1	1	1	0	0	0	0	1	0	0	0	11529	913	32	4	1056	4	PCDHA7	5	140215022	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	8818544	140215022	40700238	98	98										
FAT2	2196	hgsc.bcm.edu	37	chr5	150922050	150922050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tagctggatggtctgtccgtGgtcataggccaccacatgaa	12	10	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:150922050G>T	ENST00000261800.5	-	9	8650	c.8638C>A	c.(8638-8640)Cac>Aac	p.H2880N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2880	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTGTCCGTGGTCATAGGCC	0.502																																					p.H2880N		Atlas-SNP	.											FAT2,NS,carcinoma,+2,1	FAT2	465	1	0			c.C8638A						scavenged	.						163	153	157					5																	150922050		2203	4300	6503	SO:0001583	missense	2196	exon9			GTCCGTGGTCATA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8638C>A	5.37:g.150922050G>T	ENSP00000261800:p.His2880Asn	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	185	3	0.0162162	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262837	0.39995	.	.	ENSG00000086570	ENST00000261800	T	0.01665	4.7	6.05	5.17	0.71159	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.02119	0.0066	N	0.10760	0.04	0.51482	D	0.999922	P	0.37612	0.602	P	0.46917	0.531	T	0.71374	-0.4612	10	0.13108	T	0.6	.	16.7973	0.85605	0.0:0.0:0.8701:0.1299	.	2880	Q9NYQ8	FAT2_HUMAN	N	2880	ENSP00000261800:H2880N	ENSP00000261800:H2880N	H	-	1	0	FAT2	150902243	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.620000	0.74224	1.547000	0.49401	0.650000	0.86243	CAC	.	.	none		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150922050	G	T	150922050	3	4	1	1	0	0	0	0	1	0	0	0	5690	1348	47	4	4471	4	FAT2	5	150922050	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	10707028	150922050	29993210	99	99										
ZNF454	285676	hgsc.bcm.edu	37	chr5	178392474	178392474	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acactggagagaaaccctttGaatgtaatgaatgtgggaag	12	5	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr5:178392474G>A	ENST00000320129.3	+	5	1372	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E357K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GAAACCCTTTGAATGTAATGA	0.393																																					p.E357K		Atlas-SNP	.											.	ZNF454	99	.	0			c.G1069A						PASS	.						40	44	43					5																	178392474		2203	4300	6503	SO:0001583	missense	285676	exon5			CCCTTTGAATGTA	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1069G>A	5.37:g.178392474G>A	ENSP00000326249:p.Glu357Lys	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	49	5	0.102041	NM_001178089	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716785	0.48622	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.06608	3.28;3.28	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001005	T	0.04452	0.0122	N	0.01188	-0.97	0.28822	N	0.897625	P	0.51791	0.948	P	0.51866	0.682	T	0.44050	-0.9353	10	0.34782	T	0.22	-18.4194	14.4348	0.67274	0.0:0.0:1.0:0.0	.	357	Q8N9F8	ZN454_HUMAN	K	357	ENSP00000326249:E357K;ENSP00000430354:E357K	ENSP00000326249:E357K	E	+	1	0	ZNF454	178325080	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.128000	0.10531	2.344000	0.79699	0.650000	0.86243	GAA	.	.	none		0.393	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		A	178392474	G	A	178392474	3	1	1	1	0	0	0	0	1	0	0	0	17920	1291	45	2	1083	2	ZNF454	5	178392474	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	27470424	178392474	2522786	100	100										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26157012	26157012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cggccaaggccaagaagccaGcaggagcggcgaagaagccc	15	13	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:26157012G>A	ENST00000304218.3	+	1	454	c.394G>A	c.(394-396)Gca>Aca	p.A132T	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	132					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAAGCCAGCAGGAGCGGC	0.637																																					p.A132T		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.G394A						PASS	.						15	22	19					6																	26157012		2201	4297	6498	SO:0001583	missense	3008	exon1			AAGCCAGCAGGAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.394G>A	6.37:g.26157012G>A	ENSP00000307705:p.Ala132Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	5.354	0.250648	0.10130	.	.	ENSG00000168298	ENST00000304218	T	0.26957	1.7	5.51	1.63	0.23807	.	0.267468	0.34628	N	0.003817	T	0.05135	0.0137	L	0.27053	0.805	0.32693	N	0.513953	B	0.02656	0.0	B	0.04013	0.001	T	0.40194	-0.9576	10	0.14656	T	0.56	-0.2098	9.6047	0.39626	0.1402:0.0:0.7406:0.1192	.	132	P10412	H14_HUMAN	T	132	ENSP00000307705:A132T	ENSP00000307705:A132T	A	+	1	0	HIST1H1E	26264991	0.944000	0.32072	0.001000	0.08648	0.032000	0.12392	2.034000	0.41145	0.070000	0.16634	-1.300000	0.01332	GCA	.	.	none		0.637	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26157012	G	A	26157012	3	1	1	1	0	0	0	0	1	0	0	0	7126	971	34	2	396	2	HIST1H1E	6	26157012	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10		26157012	144958055	101	101										
HIST1H2BL	8340	hgsc.bcm.edu	37	chr6	27775641	27775641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccttggtcaccgccttcttgGagcccttcttcggggcggga	13	14	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:27775641G>A	ENST00000377401.2	-	1	68	c.44C>T	c.(43-45)tCc>tTc	p.S15F	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	15					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGCCTTCTTGGAGCCCTTCTT	0.527																																					p.S15F		Atlas-SNP	.											.	HIST1H2BL	48	.	0			c.C44T						PASS	.						98	99	99					6																	27775641		2203	4300	6503	SO:0001583	missense	8340	exon1			TTCTTGGAGCCCT	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.44C>T	6.37:g.27775641G>A	ENSP00000366618:p.Ser15Phe	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	286	71	0.248252	NM_003519	B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.484608	0.84854	.	.	ENSG00000185130	ENST00000377401	T	0.22945	1.93	4.35	4.35	0.52113	Histone-fold (2);	.	.	.	.	T	0.33177	0.0854	L	0.45228	1.405	0.58432	D	0.999991	D	0.69078	0.997	D	0.71656	0.974	T	0.05022	-1.0911	9	0.46703	T	0.11	.	16.7381	0.85452	0.0:0.0:1.0:0.0	.	15	Q99880	H2B1L_HUMAN	F	15	ENSP00000366618:S15F	ENSP00000366618:S15F	S	-	2	0	HIST1H2BL	27883620	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	4.668000	0.61568	2.331000	0.79229	0.650000	0.86243	TCC	.	.	none		0.527	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		A	27775641	G	A	27775641	3	1	1	1	0	0	0	0	1	0	0	0	7151	1174	41	2	340	2	HIST1H2BL	6	27775641	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1618629	27775641	143339426	102	102										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31322910	31322910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcttcctcctacacatcacaGcagcgaccacagctccgatg	6	17	2	0	rs74189305		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:31322910G>A	ENST00000412585.2	-	5	1014	c.986C>T	c.(985-987)gCt>gTt	p.A329V		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	329			A -> T (in dbSNP:rs1051488).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.A329V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACACATCACAGCAGCGACCAC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.A329V		Atlas-SNP	.											HLA-B,NS,carcinoma,-1,7	HLA-B	54	7	4	Substitution - Missense(4)	kidney(4)	c.C986T						scavenged	.						102	101	101					6																	31322910		1511	2709	4220	SO:0001583	missense	3106	exon5	Familial Cancer Database	;Lichen Sclerosis, Familial	ATCACAGCAGCGA	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.986C>T	6.37:g.31322910G>A	ENSP00000399168:p.Ala329Val	Somatic	179	5	0.027933		WXS	Illumina HiSeq	Phase_I	196	7	0.0357143	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	9.051	0.992087	0.18966	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00622	6.16	3.73	-3.02	0.05446	.	.	.	.	.	T	0.00109	0.0003	N	0.00729	-1.24	0.09310	N	1	B	0.20052	0.041	B	0.29077	0.098	T	0.22906	-1.0203	9	0.49607	T	0.09	.	5.2273	0.15401	0.4363:0.3516:0.2121:0.0	.	329	P01889	1B07_HUMAN	V	329;208	ENSP00000399168:A329V	ENSP00000399168:A329V	A	-	2	0	HLA-B	31430889	0.000000	0.05858	0.128000	0.21923	0.021000	0.10359	0.033000	0.13754	-0.241000	0.09681	0.448000	0.29417	GCT	.	.	weak		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31322910	G	A	31322910	3	1	1	1	0	0	0	0	1	0	0	0	7196	971	34	2	114	2	HLA-B	6	31322910	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3547269	31322910	139792157	103	103										
LTB	4050	hgsc.bcm.edu	37	chr6	31549632	31549632	+	Missense_Mutation	SNP	G	G	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccccggggtcggccgtctccGttacctggttgggtggggtc							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:31549632G>A	ENST00000429299.2	-	2	174	c.167C>T	c.(166-168)aCg>aTg	p.T56M	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	56					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GGCCGTCTCCGTTACCTGGTT	0.627																																					p.T56M		Atlas-SNP	.											.	LTB	19	.	0			c.C167T						PASS	.						80	89	86					6																	31549632		1509	2709	4218	SO:0001583	missense	4050	exon2			GTCTCCGTTACCT	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.167C>T	6.37:g.31549632G>A	ENSP00000410481:p.Thr56Met	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	82	13	0.158537	NM_002341	P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534745	0.27475	.	.	ENSG00000227507	ENST00000429299	T	0.21932	1.98	5.45	-0.999	0.10208	.	1.156080	0.06349	N	0.709538	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	0.999997	B	0.13145	0.007	B	0.08055	0.003	T	0.42732	-0.9434	10	0.44086	T	0.13	-0.0223	3.3408	0.07118	0.3298:0.0:0.3705:0.2997	.	56	Q06643	TNFC_HUMAN	M	56	ENSP00000410481:T56M	ENSP00000410481:T56M	T	-	2	0	LTB	31657611	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.359000	0.20233	-0.203000	0.10251	-0.742000	0.03525	ACG	.	.	none		0.627	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			A	31549632	G	A	31549632	3	1	1	1	0	0	0	0	1	0	0	0	9070	1145	40	1	579	1	LTB	6	31549632	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	226722	31549632	139565435	104	104	2	2								
LTB	4050	hgsc.bcm.edu	37	chr6	31549636	31549636	+	Splice_Site	SNP	C	C	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggggtcggccgtctccgttaCctggttgggtggggtcacag					rs571318566	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:31549636C>G	ENST00000429299.2	-	2	170	c.163G>C	c.(163-165)Gta>Cta	p.V55L	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	55					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GTCTCCGTTACCTGGTTGGGT	0.622																																					p.V55L		Atlas-SNP	.											.	LTB	19	.	0			c.G163C						PASS	.						78	87	84					6																	31549636		1509	2709	4218	SO:0001630	splice_region_variant	4050	exon2			CCGTTACCTGGTT	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.163-1G>C	6.37:g.31549636C>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	79	11	0.139241	NM_002341	P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307743	0.60305	.	.	ENSG00000227507	ENST00000429299	T	0.21361	2.01	5.45	5.45	0.79879	.	0.715933	0.12594	N	0.455328	T	0.22627	0.0546	L	0.49126	1.545	0.80722	D	1	D	0.67145	0.996	P	0.55161	0.77	T	0.00915	-1.1516	10	0.27082	T	0.32	-17.783	14.7884	0.69821	0.0:1.0:0.0:0.0	.	55	Q06643	TNFC_HUMAN	L	55	ENSP00000410481:V55L	ENSP00000410481:V55L	V	-	1	0	LTB	31657615	0.998000	0.40836	0.993000	0.49108	0.049000	0.14656	1.506000	0.35747	2.555000	0.86185	0.655000	0.94253	GTA	.	.	none		0.622	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3		Missense_Mutation	G	31549636	C	G	31549636	5	3	1	1	0	0	0	0	0	0	1	0	9070	521	18	4	583	4	LTB	6	31549636	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	4	31549636	139565431	105	105	2	2								
TNXB	7148	hgsc.bcm.edu	37	chr6	32020562	32020562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acggtgacctcgctctcctcGcccctgacacgcaccacctg	8	20	1	2	rs375459891		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:32020562G>A	ENST00000375244.3	-	26	9201	c.9000C>T	c.(8998-9000)ggC>ggT	p.G3000G	TNXB_ENST00000375247.2_Silent_p.G2998G			P22105	TENX_HUMAN	tenascin XB	3045	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCTCTCCTCGCCCCTGACAC	0.687													g|||	1	0.000199681	0.0	0.0	5008	,	,		14923	0.001		0.0	False		,,,				2504	0.0				p.G2998G		Atlas-SNP	.											.	TNXB	553	.	0			c.C8994T						PASS	.						40	44	43					6																	32020562		1251	2548	3799	SO:0001819	synonymous_variant	7148	exon26			CTCCTCGCCCCTG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9000C>T	6.37:g.32020562G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	41	5	0.121951	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				.	.	weak		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32020562	G	A	32020562	2	1	1	1	0	0	0	0	0	0	0	1	16343	1074	38	1		1	TNXB	6	32020562	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	470926	32020562	139094505	106	106										
PRPH2	5961	hgsc.bcm.edu	37	chr6	42690015	42690015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaaccagttcatgagccagaGcccttgggccaacttgaccc	10	14	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:42690015G>T	ENST00000230381.5	-	1	297	c.58C>A	c.(58-60)Ctc>Atc	p.L20I		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	20					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			ATGAGCCAGAGCCCTTGGGCC	0.527																																					p.L20I		Atlas-SNP	.											.	PRPH2	47	.	0			c.C58A						PASS	.						81	78	79					6																	42690015		2203	4300	6503	SO:0001583	missense	5961	exon1			GCCAGAGCCCTTG		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.58C>A	6.37:g.42690015G>T	ENSP00000230381:p.Leu20Ile	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	133	38	0.285714	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778382	0.70107	.	.	ENSG00000112619	ENST00000230381	D	0.82526	-1.62	5.61	5.61	0.85477	.	0.057622	0.64402	D	0.000001	D	0.89203	0.6648	M	0.84585	2.705	0.51233	D	0.999911	P	0.51791	0.948	P	0.56700	0.804	D	0.88512	0.3090	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	20	P23942	PRPH2_HUMAN	I	20	ENSP00000230381:L20I	ENSP00000230381:L20I	L	-	1	0	PRPH2	42797993	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.685000	0.54678	2.631000	0.89168	0.655000	0.94253	CTC	.	.	none		0.527	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		T	42690015	G	T	42690015	3	4	1	1	0	0	0	0	1	0	0	0	12577	971	34	4	994	4	PRPH2	6	42690015	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	10669453	42690015	128425052	107	107										
PKHD1	5314	hgsc.bcm.edu	37	chr6	51909826	51909826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gggtccaagaaaaactccacCatcatataccacacgcgtgg	8	13	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:51909826C>A	ENST00000371117.3	-	25	2928	c.2653G>T	c.(2653-2655)Ggt>Tgt	p.G885C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G885C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	885					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAACTCCACCATCATATACC	0.478																																					p.G885C		Atlas-SNP	.											PKHD1_ENST00000340994,scalp,malignant_melanoma,0,2	PKHD1	927	2	0			c.G2653T						scavenged	.						119	103	108					6																	51909826		2203	4299	6502	SO:0001583	missense	5314	exon25			CTCCACCATCATA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2653G>T	6.37:g.51909826C>A	ENSP00000360158:p.Gly885Cys	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	122	3	0.0245902	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158377	0.78114	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.96073	-3.68;-3.9	5.25	5.25	0.73442	.	0.072878	0.56097	D	0.000025	D	0.97711	0.9249	M	0.85710	2.77	0.40959	D	0.984606	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98539	1.0631	10	0.87932	D	0	.	16.704	0.85367	0.0:1.0:0.0:0.0	.	885;885	P08F94-2;P08F94	.;PKHD1_HUMAN	C	885	ENSP00000360158:G885C;ENSP00000341097:G885C	ENSP00000341097:G885C	G	-	1	0	PKHD1	52017785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.027000	0.64109	2.619000	0.88677	0.655000	0.94253	GGT	.	.	none		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51909826	C	A	51909826	3	1	1	1	0	0	0	0	1	0	0	0	11971	594	21	4	9782	4	PKHD1	6	51909826	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	9219811	51909826	119205241	108	108										
HDDC2	51020	hgsc.bcm.edu	37	chr6	125621684	125621684	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caaagtccagctcagcttacCggtctttgttaagacggtca	9	11	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:125621684C>T	ENST00000398153.2	-	2	248	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	HDDC2_ENST00000608284.1_Splice_Site_p.R69Q|HDDC2_ENST00000368377.4_Splice_Site_p.R69Q|HDDC2_ENST00000608295.1_Splice_Site_p.R69Q	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	69	HD.			R -> P (in Ref. 2; AAD34125). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		CTCAGCTTACCGGTCTTTGTT	0.468																																					p.R69Q		Atlas-SNP	.											.	HDDC2	21	.	0			c.G206A						PASS	.						87	93	91					6																	125621684		1978	4164	6142	SO:0001630	splice_region_variant	51020	exon2			GCTTACCGGTCTT	AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 74"	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.206+1G>A	6.37:g.125621684C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	186	40	0.215054	NM_016063	Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	37	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402058	0.83120	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.53857	1.01;0.6;1.01	5.53	5.53	0.82687	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.045026	0.85682	D	0.000000	T	0.63640	0.2528	M	0.87682	2.9	0.42936	D	0.994335	D	0.62365	0.991	P	0.56612	0.802	T	0.63659	-0.6587	10	0.19147	T	0.46	.	18.2254	0.89915	0.0:1.0:0.0:0.0	.	69	Q7Z4H3	HDDC2_HUMAN	Q	69	ENSP00000316242:R69Q;ENSP00000381220:R69Q;ENSP00000357361:R69Q	ENSP00000316242:R69Q	R	-	2	0	HDDC2	125663383	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.636000	0.67848	2.593000	0.87608	0.655000	0.94253	CGG;CGA;CGA	.	.	none		0.468	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063	Missense_Mutation	T	125621684	C	T	125621684	5	4	1	1	0	0	0	0	0	0	1	0	7016	666	23	1	428	1	HDDC2	6	125621684	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	73711858	125621684	45493383	109	109										
SGK1	6446	hgsc.bcm.edu	37	chr6	134494703	134494703	+	Splice_Site	DEL	G	G	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgatttgctgagaaggacttGgctagaaaaaaaaaaaaaga							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:134494703delG	ENST00000237305.7	-	4	318	c.230delC	c.(229-231)cca>ca	p.P77fs	SGK1_ENST00000367858.5_Splice_Site_p.P172fs|SGK1_ENST00000367857.5_Splice_Site_p.P67fs|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Splice_Site_p.P77fs|SGK1_ENST00000413996.3_Splice_Site_p.P91fs|SGK1_ENST00000528577.1_Splice_Site_p.P105fs	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	77					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGAAGGACTTGGCTAGAAAAA	0.368																																					p.P172fs		Atlas-Indel	.											SGK1_ENST00000528577,NS,lymphoid_neoplasm,-2,6	SGK1	387	6	0			c.516delA						PASS	.						46	49	48					6																	134494703		2203	4300	6503	SO:0001630	splice_region_variant	6446	exon6			.	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.229-1C>-	6.37:g.134494703delG		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	68	13	0.191176	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000237305.7	37	CCDS5170.1																																																																																			.	.	none		0.368	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Frame_Shift_Del	-	134494703	G	-	134494703	8	5	1	1	0	1	0	1	0	0	1	0	14207	1362	47	0	1101	0	SGK1	6	134494703	Splice_Site	DEL	G	TCGA-FA-8693-01A-11D-2397-10	8873019	134494703	36620364	110	110	3	2	1	1		4	3	956	N	G	4.223658e-05
SGK1	6446	hgsc.bcm.edu	37	chr6	134494704	134494704	+	Splice_Site	SNP	G	G	C													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gatttgctgagaaggacttgGctagaaaaaaaaaaaaagaa							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:134494704G>C	ENST00000237305.7	-	4	317	c.229C>G	c.(229-231)Cca>Gca	p.P77A	SGK1_ENST00000367858.5_Splice_Site_p.P172A|SGK1_ENST00000367857.5_Splice_Site_p.P67A|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Splice_Site_p.P77A|SGK1_ENST00000413996.3_Splice_Site_p.P91A|SGK1_ENST00000528577.1_Splice_Site_p.P105A	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	77					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.P172S(1)|p.P77S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GAAGGACTTGGCTAGAAAAAA	0.368																																					p.P172A		Atlas-SNP	.											SGK1_ENST00000528577,NS,lymphoid_neoplasm,0,6	SGK1	387	6	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C514G						PASS	.						44	48	47					6																	134494704		2203	4300	6503	SO:0001630	splice_region_variant	6446	exon6			GACTTGGCTAGAA	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.229-1C>G	6.37:g.134494704G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	50	5	0.1	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594913	0.46318	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.72394	3.18;3.18;3.18;3.18;3.18;-0.65	6.02	6.02	0.97574	Protein kinase-like domain (1);	0.050195	0.85682	D	0.000000	T	0.56558	0.1993	M	0.62723	1.935	0.80722	D	1	B;P;B;B;B;B	0.42871	0.065;0.792;0.014;0.05;0.232;0.008	B;B;B;B;B;B	0.34138	0.064;0.121;0.028;0.061;0.176;0.011	T	0.59359	-0.7469	10	0.21014	T	0.42	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	105;91;77;67;172;77	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	A	172;91;77;67;105;77;141	ENSP00000356832:P172A;ENSP00000396242:P91A;ENSP00000237305:P77A;ENSP00000356831:P67A;ENSP00000434450:P105A;ENSP00000434302:P77A	ENSP00000237305:P77A	P	-	1	0	SGK1	134536397	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.563000	0.82314	2.865000	0.98341	0.655000	0.94253	CCA	.	.	none		0.368	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Missense_Mutation	C	134494704	G	C	134494704	5	2	1	1	0	0	0	0	0	0	1	0	14207	1217	42	4	1102	4	SGK1	6	134494704	Splice_Site	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1	134494704	36620363	111	111	3	2	1	1		4	3	956	N	G	4.223658e-05
SGK1	6446	hgsc.bcm.edu	37	chr6	134495169	134495169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaagggttggcattcataaGctcaggctcctgaggttggg	15	7	2	2	rs141028225		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:134495169G>C	ENST00000237305.7	-	3	290	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	SGK1_ENST00000367858.5_Missense_Mutation_p.L163V|SGK1_ENST00000367857.5_Missense_Mutation_p.L58V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.L68V|SGK1_ENST00000413996.3_Missense_Mutation_p.L82V|SGK1_ENST00000528577.1_Missense_Mutation_p.L96V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	68					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCATTCATAAGCTCAGGCTCC	0.478																																					p.L163V		Atlas-SNP	.											.	SGK1	387	.	0			c.C487G						PASS	.	G	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	0,4406		0,0,2203	151	144	146		487,286,244,202	5	1	6	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SGK1	NM_001143676.1,NM_001143677.1,NM_001143678.1,NM_005627.3	32,32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	163/527,96/460,82/446,68/432	134495169	1,13005	2203	4300	6503	SO:0001583	missense	6446	exon5			TCATAAGCTCAGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.202C>G	6.37:g.134495169G>C	ENSP00000237305:p.Leu68Val	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	110	22	0.2	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057170	0.36277	0.0	1.16E-4	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.72282	-0.64;-0.63;-0.62;-0.62;-0.62;-0.63	5.99	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;B	0.28605	0.008;0.008;0.0;0.073;0.217;0.002	B;B;B;B;B;B	0.31946	0.012;0.002;0.001;0.088;0.138;0.004	T	0.53092	-0.8487	10	0.30854	T	0.27	.	11.0283	0.47757	0.1506:0.0:0.8494:0.0	.	96;82;68;58;163;68	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	163;82;68;58;96;68;132	ENSP00000356832:L163V;ENSP00000396242:L82V;ENSP00000237305:L68V;ENSP00000356831:L58V;ENSP00000434450:L96V;ENSP00000434302:L68V	ENSP00000237305:L68V	L	-	1	0	SGK1	134536862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.307000	0.51888	1.377000	0.46286	0.655000	0.94253	CTT	G|1.000;C|0.000	0.000	weak		0.478	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			C	134495169	G	C	134495169	3	2	1	1	0	0	0	0	1	0	0	0	14207	971	34	4	1133	4	SGK1	6	134495169	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	465	134495169	36619898	112	112			1	1		4	3	956	N	G	4.223658e-05
SGK1	6446	hgsc.bcm.edu	37	chr6	134495658	134495658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtcaaacttactgtttgcatGcataggagttattggcaatc	9	7	1	0	rs375777416		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:134495658G>A	ENST00000237305.7	-	2	231	c.143C>T	c.(142-144)gCa>gTa	p.A48V	SGK1_ENST00000367858.5_Missense_Mutation_p.A143V|SGK1_ENST00000367857.5_Missense_Mutation_p.A38V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Missense_Mutation_p.A48V|SGK1_ENST00000413996.3_Missense_Mutation_p.A62V|SGK1_ENST00000528577.1_Missense_Mutation_p.A76V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	48	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTGTTTGCATGCATAGGAGTT	0.413											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A143V		Atlas-SNP	.											.	SGK1	387	.	0			c.C428T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	88	85	86		143,185,227,428	5.9	1	6		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SGK1	NM_005627.3,NM_001143678.1,NM_001143677.1,NM_001143676.1	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	48/432,62/446,76/460,143/527	134495658	1,13005	2203	4300	6503	SO:0001583	missense	6446	exon4			TTGCATGCATAGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.143C>T	6.37:g.134495658G>A	ENSP00000237305:p.Ala48Val	Somatic	86	0	0	1611	WXS	Illumina HiSeq	Phase_I	88	14	0.159091	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.778015	0.31502	0.0	1.16E-4	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.38240	1.67;1.67;1.67;1.67;1.67;1.67;1.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B;B	0.29988	0.001;0.264;0.0;0.004;0.013;0.001	B;B;B;B;B;B	0.24269	0.004;0.052;0.001;0.005;0.022;0.002	T	0.06267	-1.0836	10	0.15066	T	0.55	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	76;62;48;38;143;48	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	143;62;48;38;76;48;112	ENSP00000356832:A143V;ENSP00000396242:A62V;ENSP00000237305:A48V;ENSP00000356831:A38V;ENSP00000434450:A76V;ENSP00000434302:A48V;ENSP00000435577:A112V	ENSP00000237305:A48V	A	-	2	0	SGK1	134537351	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.062000	0.89475	2.783000	0.95769	0.655000	0.94253	GCA	.	.	weak		0.413	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134495658	G	A	134495658	3	1	1	1	0	0	0	0	1	0	0	0	14207	1319	46	2	1196	2	SGK1	6	134495658	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	489	134495658	36619409	113	113			1	1		4	3	956	N	G	4.223658e-05
NMBR	4829	hgsc.bcm.edu	37	chr6	142399929	142399929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gccacttctgaaaacaccgcTtcgggaactgccagcaacac	8	15	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:142399929T>C	ENST00000258042.1	-	2	674	c.534A>G	c.(532-534)gaA>gaG	p.E178E	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	178					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAAACACCGCTTCGGGAACTG	0.512																																					p.E178E		Atlas-SNP	.											NMBR,NS,carcinoma,-2,1	NMBR	62	1	0			c.A534G						PASS	.						117	107	110					6																	142399929		2203	4300	6503	SO:0001819	synonymous_variant	4829	exon2			CACCGCTTCGGGA		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.534A>G	6.37:g.142399929T>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	176	37	0.210227	NM_002511	E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	CCDS5196.1																																																																																			.	.	none		0.512	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			C	142399929	T	C	142399929	2	2	1	1	0	0	0	0	0	0	0	1	10487	1606	56	3		3	NMBR	6	142399929	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	7904271	142399929	28715138	114	114										
LRP11	84918	hgsc.bcm.edu	37	chr6	150174287	150174287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cagccttgctaagtggaggcGcatccttttctgagaaagaa	11	9	1	2	rs150922217	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:150174287G>T	ENST00000239367.2	-	2	628	c.623C>A	c.(622-624)gCg>gAg	p.A208E	LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Missense_Mutation_p.A208E|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	208						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438																																					p.A208E		Atlas-SNP	.											LRP11,NS,carcinoma,0,2	LRP11	27	2	0			c.C623A						scavenged	.						57	52	53					6																	150174287		2203	4300	6503	SO:0001583	missense	84918	exon2			GGAGGCGCATCCT	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.623C>A	6.37:g.150174287G>T	ENSP00000239367:p.Ala208Glu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	123	2	0.0162602	NM_032832	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	G	4.619	0.115107	0.08831	.	.	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.14022	2.54;2.54	5.54	3.09	0.35607	PKD domain (1);	0.264933	0.42821	N	0.000651	T	0.01287	0.0042	N	0.01152	-0.98	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44421	-0.9329	10	0.12430	T	0.62	-13.944	10.7567	0.46241	0.0:0.0:0.363:0.637	.	208;208	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	E	208	ENSP00000239367:A208E;ENSP00000356338:A208E	ENSP00000239367:A208E	A	-	2	0	LRP11	150215980	1.000000	0.71417	0.981000	0.43875	0.538000	0.34931	3.589000	0.53972	0.359000	0.24239	-0.274000	0.10170	GCG	G|1.000;A|0.000	.	alt		0.438	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		T	150174287	G	T	150174287	3	4	1	1	0	0	0	0	1	0	0	0	8953	1087	38	4	903	4	LRP11	6	150174287	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	7774358	150174287	20940780	115	115										
RPS6KA2	6196	hgsc.bcm.edu	37	chr6	166862233	166862233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcacggcatactcggtgtcTgtggctttatgcacacatcg	10	11	2	0	rs2230730	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr6:166862233T>C	ENST00000265678.4	-	14	1534	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	RPS6KA2_ENST00000503859.1_Silent_p.T445T|RPS6KA2_ENST00000481261.2_Silent_p.T348T|RPS6KA2_ENST00000510118.1_Silent_p.T462T|RPS6KA2_ENST00000405189.3_Silent_p.T348T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	437	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACTCGGTGTCTGTGGCTTTAT	0.582													C|||	996	0.198882	0.1876	0.2723	5008	,	,		24814	0.0764		0.3082	False		,,,				2504	0.1759				p.T445T		Atlas-SNP	.											RPS6KA2_ENST00000503859,NS,carcinoma,-1,2	RPS6KA2	212	2	0			c.A1335G						scavenged	.	C	,	931,3475	736.1+/-410.7	99,733,1371	238	158	185		1335,1311	-8.8	0.6	6	dbSNP_120	185	2587,6013	688.1+/-404.3	387,1813,2100	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	486,2546,3471	CC,CT,TT		30.0814,21.1303,27.0491	,	445/742,437/734	166862233	3518,9488	2203	4300	6503	SO:0001819	synonymous_variant	6196	exon15			GGTGTCTGTGGCT	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1311A>G	6.37:g.166862233T>C		Somatic	337	1	0.00296736		WXS	Illumina HiSeq	Phase_I	319	5	0.015674	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			T|0.764;C|0.236;A|0.000	0.236	strong		0.582	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		C	166862233	T	C	166862233	2	2	1	1	0	0	0	0	0	0	0	1	13651	1567	55	3		3	RPS6KA2	6	166862233	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	16687946	166862233	4252834	116	116										
RNF216	54476	hgsc.bcm.edu	37	chr7	5662542	5662542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcatgggcaggttgtgctcCaggggcatgtggatgggacc	18	8	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:5662542C>T	ENST00000425013.2	-	17	2774	c.2550G>A	c.(2548-2550)ctG>ctA	p.L850L	RNF216_ENST00000469375.1_5'Flank|RNF216_ENST00000389902.3_Silent_p.L907L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	850	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGTTGTGCTCCAGGGGCATGT	0.617																																					p.L907L		Atlas-SNP	.											.	RNF216	71	.	0			c.G2721A						PASS	.						108	118	114					7																	5662542		2203	4300	6503	SO:0001819	synonymous_variant	54476	exon17			GTGCTCCAGGGGC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2550G>A	7.37:g.5662542C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	51	8	0.156863	NM_207111	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	CCDS34595.1																																																																																			.	.	none		0.617	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5662542	C	T	5662542	2	4	1	1	0	0	0	0	0	0	0	1	13480	581	21	2		2	RNF216	7	5662542	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10		5662542	153476121	117	117										
DPY19L1	23333	hgsc.bcm.edu	37	chr7	35009120	35009120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaaatgcagagtgcaatcaaGcttcctctataaagttttgt	8	7	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:35009120G>A	ENST00000310974.4	-	9	864	c.720C>T	c.(718-720)agC>agT	p.S240S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	240						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S240S(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTGCAATCAAGCTTCCTCTAT	0.358																																					p.S240S		Atlas-SNP	.											DPY19L1,NS,carcinoma,0,2	DPY19L1	56	2	2	Substitution - coding silent(2)	kidney(2)	c.C720T						scavenged	.						81	76	77					7																	35009120		1833	4097	5930	SO:0001819	synonymous_variant	23333	exon9			AATCAAGCTTCCT	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.720C>T	7.37:g.35009120G>A		Somatic	458	9	0.0196507		WXS	Illumina HiSeq	Phase_I	439	12	0.0273349	NM_015283	O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																			.	.	none		0.358	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			A	35009120	G	A	35009120	2	1	1	1	0	0	0	0	0	0	0	1	4740	962	34	2		2	DPY19L1	7	35009120	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	29346578	35009120	124129543	118	118										
RABGEF1	27342	hgsc.bcm.edu	37	chr7	66270294	66270294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttttgaagggcaaccccccaCgccttcagtctaatatccag	7	14	2	1	rs558434519		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:66270294C>T	ENST00000284957.5	+	8	1065	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	RABGEF1_ENST00000450873.2_Missense_Mutation_p.R330C|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.R370C|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R344C|KCTD7_ENST00000510829.2_Missense_Mutation_p.R330C|KCTD7_ENST00000451741.2_Missense_Mutation_p.R330C|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R343C			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	547					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAACCCCCCACGCCTTCAGTC	0.502													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20067	0.0		0.0	False		,,,				2504	0.0				p.R330C		Atlas-SNP	.											RABGEF1,NS,carcinoma,-1,1	RABGEF1	56	1	0			c.C988T						scavenged	.						119	100	106					7																	66270294		2203	4300	6503	SO:0001583	missense	27342	exon8			CCCCCACGCCTTC	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.988C>T	7.37:g.66270294C>T	ENSP00000284957:p.Arg330Cys	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	200	2	0.01	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912936	0.92178	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.6	5.6	0.85130	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.047247	0.85682	D	0.000000	T	0.61198	0.2328	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.994;0.995	T	0.65492	-0.6155	10	0.72032	D	0.01	-5.7146	18.602	0.91250	0.0:1.0:0.0:0.0	.	344;164;547	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	C	414;370;330;330;246;330;330;343;344	ENSP00000370208:R370C;ENSP00000421124:R330C;ENSP00000398177:R330C;ENSP00000284957:R330C;ENSP00000415815:R330C;ENSP00000403429:R343C;ENSP00000390480:R344C	ENSP00000370207:R414C	R	+	1	0	RABGEF1;KCTD7	65907729	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.411000	0.59781	2.643000	0.89663	0.655000	0.94253	CGC	.	.	none		0.502	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		T	66270294	C	T	66270294	3	4	1	1	0	0	0	0	1	0	0	0	12966	536	19	1	1014	1	RABGEF1	7	66270294	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	31261174	66270294	92868369	119	119										
DTX2	113878	hgsc.bcm.edu	37	chr7	76132841	76132841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtattacggttccagatgtcGctccccggccacgaggactg	12	13	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:76132841G>A	ENST00000324432.5	+	10	1998	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	DTX2_ENST00000430490.2_Silent_p.S496S|DTX2_ENST00000413936.2_Silent_p.S496S|DTX2_ENST00000446600.1_Silent_p.S405S|DTX2_ENST00000446820.2_Silent_p.S449S|DTX2_ENST00000307569.8_Silent_p.S449S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	496					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCAGATGTCGCTCCCCGGCC	0.577																																					p.S496S		Atlas-SNP	.											.	DTX2	64	.	0			c.G1488A						PASS	.						68	61	63					7																	76132841		2199	4293	6492	SO:0001819	synonymous_variant	113878	exon9			GATGTCGCTCCCC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1488G>A	7.37:g.76132841G>A		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	219	51	0.232877	NM_001102594	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																			.	.	none		0.577	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			A	76132841	G	A	76132841	2	1	1	1	0	0	0	0	0	0	0	1	4794	1074	38	1		1	DTX2	7	76132841	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	9862547	76132841	83005822	120	120										
MAGI2	9863	hgsc.bcm.edu	37	chr7	78636484	78636484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaacccttttgaaatcgtaAgttgaggtagtgacgaaggt	12	5	0	4			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:78636484A>C	ENST00000354212.4	-	2	593	c.340T>G	c.(340-342)Tta>Gta	p.L114V	MAGI2_ENST00000419488.1_Missense_Mutation_p.L114V|MAGI2_ENST00000522391.1_Missense_Mutation_p.L114V|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	114	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.L114V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAAATCGTAAGTTGAGGTAG	0.388																																					p.L114V		Atlas-SNP	.											MAGI2,caecum,carcinoma,0,1	MAGI2	246	1	1	Substitution - Missense(1)	large_intestine(1)	c.T340G						PASS	.						147	126	133					7																	78636484		2203	4300	6503	SO:0001583	missense	9863	exon2			ATCGTAAGTTGAG	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.340T>G	7.37:g.78636484A>C	ENSP00000346151:p.Leu114Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	148	22	0.148649	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994850	0.74703	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11277	2.89;2.89;2.79	5.29	4.1	0.47936	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	.	.	.	.	T	0.23492	0.0568	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.82	T	0.00647	-1.1628	9	0.35671	T	0.21	.	9.4432	0.38681	0.8477:0.0:0.1523:0.0	.	114;114	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	V	114	ENSP00000405766:L114V;ENSP00000346151:L114V;ENSP00000428389:L114V	ENSP00000346151:L114V	L	-	1	2	MAGI2	78474420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.746000	0.55127	0.802000	0.34089	0.519000	0.50382	TTA	.	.	none		0.388	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		C	78636484	A	C	78636484	3	2	1	1	0	0	0	0	1	0	0	0	9191	69	3	5	4111	5	MAGI2	7	78636484	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2503643	78636484	80502179	121	121										
GNAT3	346562	hgsc.bcm.edu	37	chr7	80117974	80117974	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atgcattcttgctcactgtaAccattcttatggatgatcct	6	10	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:80117974A>C	ENST00000398291.3	-	3	273	c.180T>G	c.(178-180)ggT>ggG	p.G60G	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	60					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCTCACTGTAACCATTCTTAT	0.343																																					p.G60G		Atlas-SNP	.											.	GNAT3	65	.	0			c.T180G						PASS	.						119	100	106					7																	80117974		1847	4095	5942	SO:0001819	synonymous_variant	346562	exon3			ACTGTAACCATTC		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.180T>G	7.37:g.80117974A>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	143	26	0.181818	NM_001102386	A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	CCDS47625.1																																																																																			.	.	none		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		C	80117974	A	C	80117974	2	2	1	1	0	0	0	0	0	0	0	1	6513	30	2	5		5	GNAT3	7	80117974	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1481490	80117974	79020689	122	122										
ABCB1	5243	hgsc.bcm.edu	37	chr7	87195445	87195445	+	Frame_Shift_Del	DEL	T	T	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gatggccaaaatcacaagggTtagcttccaaccacgtgtaa							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:87195445delT	ENST00000265724.3	-	8	1060	c.643delA	c.(643-645)accfs	p.T215fs	ABCB1_ENST00000543898.1_Frame_Shift_Del_p.T151fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	215	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATCACAAGGGTTAGCTTCCAA	0.428																																					p.T215fs		Pindel,Atlas-Indel	.											.	ABCB1	263	.	0			c.644delC						PASS	.						150	134	139					7																	87195445		2203	4300	6503	SO:0001589	frameshift_variant	5243	exon8			.	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.643delA	7.37:g.87195445delT	ENSP00000265724:p.Thr215fs	Somatic	144	.	.		WXS	Illumina HiSeq	Phase_I	198	33	0.167	NM_000927	A8K294|B5AK60|Q12755|Q14812	Frame_Shift_Del	DEL	ENST00000265724.3	37	CCDS5608.1																																																																																			.	.	none		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		-	87195445	T	-	87195445	7	5	1	1	0	1	0	1	0	0	0	0	40	1725	60	0	3287	0	ABCB1	7	87195445	Frame_Shift_Del	DEL	T	TCGA-FA-8693-01A-11D-2397-10	7077471	87195445	71943218	123	123										
PTCD1	26024	hgsc.bcm.edu	37	chr7	99017681	99017681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggaacttctgccaggggtgcGgggtttcctctgcgggcatc	16	11	2	0	rs568698296	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:99017681G>T	ENST00000292478.4	-	8	2262	c.2012C>A	c.(2011-2013)cCg>cAg	p.P671Q	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.P720Q|PTCD1_ENST00000555673.1_Missense_Mutation_p.P720Q	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	671					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)			CCAGGGGTGCGGGGTTTCCTC	0.592																																					p.P720Q		Atlas-SNP	.											PTCD1,colon,carcinoma,+1,1	.	.	1	0			c.C2159A						scavenged	.						137	137	137					7																	99017681		2203	4300	6503	SO:0001583	missense	100526740	exon9			GGGTGCGGGGTTT	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.2012C>A	7.37:g.99017681G>T	ENSP00000292478:p.Pro671Gln	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	130	3	0.0230769	NM_001198879	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990837	0.54041	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.66995	-0.24;-0.21;-0.21	5.82	4.94	0.65067	.	0.379952	0.31210	N	0.008053	T	0.78672	0.4320	M	0.68317	2.08	0.40810	D	0.983417	D;P	0.59357	0.985;0.938	P;P	0.59288	0.855;0.605	T	0.80171	-0.1493	10	0.54805	T	0.06	-18.8575	18.0718	0.89410	0.0639:0.0:0.9361:0.0	.	720;671	G3V325;O75127	.;PTCD1_HUMAN	Q	671;453;720;720	ENSP00000292478:P671Q;ENSP00000450995:P720Q;ENSP00000400168:P720Q	ENSP00000400168:P720Q	P	-	2	0	ATP5J2-PTCD1;PTCD1	98855617	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.522000	0.60539	0.811000	0.34303	-1.134000	0.01955	CCG	.	.	none		0.592	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		T	99017681	G	T	99017681	3	4	1	1	0	0	0	0	1	0	0	0	12727	1116	39	4	94	4	PTCD1	7	99017681	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	11822236	99017681	60120982	124	124										
CTTNBP2	83992	hgsc.bcm.edu	37	chr7	117368154	117368154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcacttacttcactgtcacTtgggcatgcccaggaactac	9	13	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:117368154T>C	ENST00000160373.3	-	17	4135	c.4044A>G	c.(4042-4044)caA>caG	p.Q1348Q		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1348					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCACTGTCACTTGGGCATGCC	0.498																																					p.Q1348Q		Atlas-SNP	.											.	CTTNBP2	200	.	0			c.A4044G						PASS	.						78	83	82					7																	117368154		2203	4300	6503	SO:0001819	synonymous_variant	83992	exon17			TGTCACTTGGGCA		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4044A>G	7.37:g.117368154T>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	177	33	0.186441	NM_033427	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	8.983	0.975850	0.18736	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.43	0.0764	0.14403	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28554	-1.0040	4	.	.	.	3.8122	4.251	0.10695	0.2507:0.22:0.0:0.5293	.	.	.	.	G	836	.	.	S	-	1	0	CTTNBP2	117155390	0.004000	0.15560	0.997000	0.53966	0.975000	0.68041	-0.307000	0.08167	0.414000	0.25790	0.528000	0.53228	AGT	.	.	none		0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		C	117368154	T	C	117368154	2	2	1	1	0	0	0	0	0	0	0	1	4045	1606	56	3		3	CTTNBP2	7	117368154	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	18350473	117368154	41770509	125	125										
KCND2	3751	hgsc.bcm.edu	37	chr7	120373050	120373050	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtcattgctctacctgttccGgtgattgtatccaacttcag	8	11	3	1	rs139984469		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:120373050G>T	ENST00000331113.4	+	2	2174	c.1209G>T	c.(1207-1209)ccG>ccT	p.P403P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	403					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TACCTGTTCCGGTGATTGTAT	0.473																																					p.P403P		Atlas-SNP	.											KCND2,NS,carcinoma,+1,2	KCND2	194	2	0			c.G1209T						scavenged	.						187	157	167					7																	120373050		2203	4300	6503	SO:0001819	synonymous_variant	3751	exon2			TGTTCCGGTGATT	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1209G>T	7.37:g.120373050G>T		Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	347	5	0.0144092	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																			G|1.000;A|0.000	.	alt		0.473	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	120373050	G	T	120373050	2	4	1	1	0	0	0	0	0	0	0	1	8019	1103	39	4		4	KCND2	7	120373050	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3004896	120373050	38765613	126	126										
IRF5	3663	hgsc.bcm.edu	37	chr7	128587381	128587381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccgcccactctgcggccgccTactctgcagccgcccactct	8	22	3	0	rs199508964|rs79724471|rs60344245	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:128587381T>C	ENST00000402030.2	+	6	603	c.531T>C	c.(529-531)ccT>ccC	p.P177P	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000473745.1_Silent_p.P177P|IRF5_ENST00000249375.4_Silent_p.P177P|IRF5_ENST00000357234.5_Silent_p.P193P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	177					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCGGCCGCCTACTCTGCAGC	0.657																																					p.P193P		Atlas-SNP	.											.	IRF5	40	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.T579C						PASS	.	T	,,,,	881,2925		144,593,1166	5	7	6		531,579,531,,531		0.1	7	dbSNP_131	6	1628,6000		358,912,2544	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	,,,,	502,1505,3710	CC,CT,TT		21.3424,23.1477,21.9433	,,,,	177/499,193/515,177/499,,177/499	128587381	2509,8925	1903	3814	5717	SO:0001819	synonymous_variant	3663	exon6			GCCGCCTACTCTG		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.531T>C	7.37:g.128587381T>C		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	25	15	0.6	NM_001098629	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	CCDS5808.1	740	0.33882783882783885	191	0.3882113821138211	85	0.23480662983425415	170	0.2972027972027972	294	0.38786279683377306	T	2.949	-0.217149	0.06101	0.231477	0.213424	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.44667	-0.9313	1	.	.	.	.	.	.	.	.	166	E9PC81	.	P	166	.	.	L	+	2	0	IRF5	128374617	0.027000	0.19231	0.110000	0.21437	0.055000	0.15305	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	CTA	T|0.661;C|0.339	0.339	strong		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		C	128587381	T	C	128587381	2	2	1	1	0	0	0	0	0	0	0	1	7833	1509	53	3		3	IRF5	7	128587381	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	8214331	128587381	30551282	127	127										
BRAF	673	hgsc.bcm.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.K601E	Colon(40;35 892 2973 5743 27438)	Atlas-SNP	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,NS,malignant_melanoma,0,81	BRAF	36346	81	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	c.A1801G						PASS	.						111	103	106					7																	140453134		2203	4300	6503	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	GAGATTTCACTGT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	115	19	0.165217	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA	.	.	weak		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140453134	T	C	140453134	3	2	1	1	0	0	0	0	1	0	0	0	1496	1792	62	2	515	2	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	11865753	140453134	18685529	128	128										
AMAC1L2	83650	hgsc.bcm.edu	37	chr8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gacctcctgacatccgaggcTgggcctgcttctgtgccctg	12	15	1	1	rs76944947	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																					p.W103R		Atlas-SNP	.											AMAC1L2,colon,carcinoma,0,2	.	.	2	1	Substitution - Missense(1)	pancreas(1)	c.T307C						scavenged	.						216	216	216					8																	11188922		2203	4300	6503	SO:0001583	missense	83650	exon1			CGAGGCTGGGCCT	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg	Somatic	220	4	0.0181818		WXS	Illumina HiSeq	Phase_I	305	11	0.0360656	NM_054028	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	T|0.754;C|0.246	0.246	strong		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		C	11188922	T	C	11188922	3	2	1	1	0	0	0	0	1	0	0	0	560	1580	55	3	309	3	AMAC1L2	8	11188922	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10		11188922	135175100	129	129										
SLC18A1	6570	hgsc.bcm.edu	37	chr8	20031913	20031913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atccaatgccttgaagggttCgggccacaaagagtagagta	12	8	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:20031913C>T	ENST00000276373.5	-	5	856	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R197Q|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R197Q|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R197Q|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R197Q|SLC18A1_ENST00000440926.1_Missense_Mutation_p.R197Q	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	197					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTGAAGGGTTCGGGCCACAAA	0.468																																					p.R197Q		Atlas-SNP	.											SLC18A1,NS,carcinoma,-1,1	SLC18A1	68	1	0			c.G590A						PASS	.						159	137	145					8																	20031913		2203	4300	6503	SO:0001583	missense	6570	exon6			AGGGTTCGGGCCA		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.590G>A	8.37:g.20031913C>T	ENSP00000276373:p.Arg197Gln	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	139	24	0.172662	NM_001142324	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107635	0.77096	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.6	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054237	0.85682	N	0.000000	D	0.85974	0.5822	H	0.94345	3.525	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89609	0.3840	10	0.87932	D	0	-8.6207	13.4319	0.61059	0.0:0.9232:0.0:0.0768	.	197;197;197	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	Q	197	ENSP00000265808:R197Q;ENSP00000276373:R197Q;ENSP00000387549:R197Q;ENSP00000413361:R197Q;ENSP00000429664:R197Q;ENSP00000371021:R197Q	ENSP00000265808:R197Q	R	-	2	0	SLC18A1	20076193	0.965000	0.33210	0.695000	0.30226	0.332000	0.28634	5.733000	0.68571	1.487000	0.48415	0.655000	0.94253	CGA	.	.	none		0.468	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			T	20031913	C	T	20031913	3	4	1	1	0	0	0	0	1	0	0	0	14425	884	31	1	1035	1	SLC18A1	8	20031913	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	8842991	20031913	126332109	130	130										
DOCK5	80005	hgsc.bcm.edu	37	chr8	25198452	25198452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcaattcgccagttatttcTtgctttcaatatgctgatgg	7	8	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:25198452T>C	ENST00000276440.7	+	23	2431	c.2387T>C	c.(2386-2388)cTt>cCt	p.L796P		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	796					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTTATTTCTTGCTTTCAAT	0.423																																					p.L796P	Pancreas(145;34 1887 3271 10937 30165)	Atlas-SNP	.											.	DOCK5	167	.	0			c.T2387C						PASS	.						85	81	82					8																	25198452		2203	4300	6503	SO:0001583	missense	80005	exon23			TATTTCTTGCTTT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2387T>C	8.37:g.25198452T>C	ENSP00000276440:p.Leu796Pro	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	87	13	0.149425	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567446	0.28003	.	.	ENSG00000147459	ENST00000276440	T	0.27890	1.64	4.99	4.99	0.66335	Armadillo-type fold (1);	0.222771	0.39210	N	0.001427	T	0.28665	0.0710	L	0.40543	1.245	0.80722	D	1	B;B;B	0.30664	0.186;0.289;0.186	B;B;B	0.33339	0.162;0.162;0.162	T	0.05954	-1.0854	10	0.36615	T	0.2	.	14.8781	0.70510	0.0:0.0:0.0:1.0	.	786;571;796	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	P	796	ENSP00000276440:L796P	ENSP00000276440:L796P	L	+	2	0	DOCK5	25254369	1.000000	0.71417	0.892000	0.35008	0.266000	0.26442	7.525000	0.81892	2.095000	0.63458	0.528000	0.53228	CTT	.	.	none		0.423	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		C	25198452	T	C	25198452	3	2	1	1	0	0	0	0	1	0	0	0	4690	1609	56	3	2477	3	DOCK5	8	25198452	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5166539	25198452	121165570	131	131										
LYN	4067	hgsc.bcm.edu	37	chr8	56910951	56910951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcggaagaactacattcaccGggacctgcgagcagctaatg	12	11	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:56910951G>A	ENST00000519728.1	+	11	1393	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000520220.2_Missense_Mutation_p.R345Q	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TACATTCACCGGGACCTGCGA	0.448																																					p.R366Q		Atlas-SNP	.											.	LYN	54	.	0			c.G1097A						PASS	.						115	110	112					8																	56910951		2203	4300	6503	SO:0001583	missense	4067	exon11			TTCACCGGGACCT	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1097G>A	8.37:g.56910951G>A	ENSP00000428924:p.Arg366Gln	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	287	73	0.254355	NM_002350	A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851905	0.97023	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.88354	-2.37;-2.37	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.98468	1.0599	10	0.87932	D	0	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	436;366	Q6NUK7;P07948	.;LYN_HUMAN	Q	366;345	ENSP00000428924:R366Q;ENSP00000428424:R345Q	ENSP00000428924:R366Q	R	+	2	0	LYN	57073505	1.000000	0.71417	0.688000	0.30117	0.945000	0.59286	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	CGG	.	.	none		0.448	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		A	56910951	G	A	56910951	3	1	1	1	0	0	0	0	1	0	0	0	9107	1116	39	1	1135	1	LYN	8	56910951	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	31712499	56910951	89453071	132	132										
PENK	5179	hgsc.bcm.edu	37	chr8	57354094	57354094	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cccatatctcttgctcacttCttcctcattatcactgccat	2	16	5	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:57354094C>T	ENST00000314922.3	-	2	617	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.E181K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	181					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.E181K(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGCTCACTTCTTCCTCATTA	0.522																																					p.E181K		Atlas-SNP	.											PENK,NS,carcinoma,0,1	PENK	59	1	1	Substitution - Missense(1)	lung(1)	c.G541A						PASS	.						136	140	138					8																	57354094		2203	4300	6503	SO:0001583	missense	5179	exon4			TCACTTCTTCCTC		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.541G>A	8.37:g.57354094C>T	ENSP00000324248:p.Glu181Lys	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	116	20	0.172414	NM_001135690	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593512	0.66219	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.17691	2.26;2.26	5.81	4.92	0.64577	.	0.472244	0.22308	N	0.061779	T	0.19967	0.0480	L	0.55990	1.75	0.80722	D	1	P	0.42078	0.77	B	0.38803	0.282	T	0.01630	-1.1308	10	0.41790	T	0.15	-3.0444	15.9707	0.80013	0.0:0.8651:0.1349:0.0	.	181	P01210	PENK_HUMAN	K	181	ENSP00000324248:E181K;ENSP00000400894:E181K	ENSP00000324248:E181K	E	-	1	0	PENK	57516648	0.997000	0.39634	0.064000	0.19789	0.904000	0.53231	7.035000	0.76517	1.429000	0.47314	0.655000	0.94253	GAA	.	.	none		0.522	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			T	57354094	C	T	57354094	3	4	1	1	0	0	0	0	1	0	0	0	11727	922	32	2	266	2	PENK	8	57354094	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	443143	57354094	89009928	133	133										
FAM135B	51059	hgsc.bcm.edu	37	chr8	139164570	139164570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agggcatgtcttcgaacaaaCgggtgcaagacttcccgatc	11	11	1	1	rs3750307	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:139164570C>T	ENST00000395297.1	-	13	2318	c.2148G>A	c.(2146-2148)ccG>ccA	p.P716P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	716										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCGAACAAACGGGTGCAAGA	0.562										HNSCC(54;0.14)			C|||	1070	0.213658	0.2057	0.1931	5008	,	,		18235	0.2321		0.173	False		,,,				2504	0.2618				p.P716P		Atlas-SNP	.											LOC51059,caecum,carcinoma,0,2	FAM135B	423	2	0			c.G2148A						scavenged	.	C		758,3178		87,584,1297	45	46	46		2148	-4.7	0	8	dbSNP_107	46	1511,6779		131,1249,2765	no	coding-synonymous	FAM135B	NM_015912.3		218,1833,4062	TT,TC,CC		18.2268,19.2581,18.5588		716/1407	139164570	2269,9957	1968	4145	6113	SO:0001819	synonymous_variant	51059	exon13			AACAAACGGGTGC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2148G>A	8.37:g.139164570C>T		Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	151	2	0.013245	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			C|0.791;N|0.000	.	strong		0.562	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139164570	C	T	139164570	2	4	1	1	0	0	0	0	0	0	0	1	5449	523	19	1		1	FAM135B	8	139164570	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	81810476	139164570	7199452	134	134										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144941419	144941419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tccagcagcctcagtgcctcCgccttctcgatgagctgctt	9	16	2	1	rs12681478	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr8:144941419C>T	ENST00000525985.1	-	2	6074	c.6003G>A	c.(6001-6003)gcG>gcA	p.A2001A				P58107	EPIPL_HUMAN	epiplakin 1	2001						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCGCCTTCTCGA	0.642													C|||	1066	0.212859	0.0113	0.33	5008	,	,		18060	0.1399		0.3708	False		,,,				2504	0.3149				p.A2001A		Atlas-SNP	.											EPPK1,NS,carcinoma,0,1	EPPK1	199	1	0			c.G6003A						scavenged	.	C		369,3945		22,325,1810	35	39	37		6003	-3.7	0	8	dbSNP_120	37	3411,5111		676,2059,1526	no	coding-synonymous	EPPK1	NM_031308.1		698,2384,3336	TT,TC,CC		40.0258,8.5535,29.4484		2001/2420	144941419	3780,9056	2157	4261	6418	SO:0001819	synonymous_variant	83481	exon1			TGCCTCCGCCTTC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6003G>A	8.37:g.144941419C>T		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	108	4	0.037037	NM_031308	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				C|0.740;T|0.260	0.260	strong		0.642	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144941419	C	T	144941419	2	4	1	1	0	0	0	0	0	0	0	1	5190	639	23	1		1	EPPK1	8	144941419	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	5776849	144941419	1422603	135	135										
CD274	29126	hgsc.bcm.edu	37	chr9	5457196	5457196	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggctgcactaattgtctattGggaaatggaggataagaaca	12	5	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:5457196G>A	ENST00000381577.3	+	3	256	c.170G>A	c.(169-171)tGg>tAg	p.W57*	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	57	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTGTCTATTGGGAAATGGAG	0.428			T	CIITA	"PMBL, Hodgkin Lymphona, "																																p.W57X		Atlas-SNP	.		Dom	yes		9	9p24	29126	CD274 molecule		L	CD274,spleen,lymphoid_neoplasm,-1,1	CD274	26	1	0			c.G170A						PASS	.						94	94	94					9																	5457196		2203	4300	6503	SO:0001587	stop_gained	29126	exon3			TCTATTGGGAAAT	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17635	protein-coding gene	gene with protein product	"B7 homolog 1"	605402	"programmed cell death 1 ligand 1", "CD274 antigen"	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.170G>A	9.37:g.5457196G>A	ENSP00000370989:p.Trp57*	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	130	20	0.153846	NM_014143	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Nonsense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	G	37	6.439266	0.97568	.	.	ENSG00000120217	ENST00000381577	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-5.8249	18.3892	0.90477	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000370989:W57X	W	+	2	0	CD274	5447196	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.301000	0.72782	2.791000	0.96007	0.655000	0.94253	TGG	.	.	none		0.428	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		A	5457196	G	A	5457196	4	1	1	1	0	0	0	0	0	1	0	0	2991	1357	47	2	176	2	CD274	9	5457196	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10		5457196	135756235	136	136										
FREM1	158326	hgsc.bcm.edu	37	chr9	14859353	14859353	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgagcagatttttatcaatCgcttgggacaagccattgaa	9	8	1	3	rs562673690	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:14859353C>T	ENST00000380880.3	-	4	1242	c.459G>A	c.(457-459)gcG>gcA	p.A153A	FREM1_ENST00000380881.4_Silent_p.A153A|FREM1_ENST00000422223.2_Silent_p.A153A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	153					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTATCAATCGCTTGGGACA	0.488																																					p.A153A		Atlas-SNP	.											.	FREM1	261	.	0			c.G459A						PASS	.						132	130	131					9																	14859353		1898	4126	6024	SO:0001819	synonymous_variant	158326	exon5			ATCAATCGCTTGG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.459G>A	9.37:g.14859353C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	130	25	0.192308	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			.	.	none		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		T	14859353	C	T	14859353	2	4	1	1	0	0	0	0	0	0	0	1	6044	871	31	1		1	FREM1	9	14859353	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	9402157	14859353	126354078	137	137										
BNC2	54796	hgsc.bcm.edu	37	chr9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctactggctcagagggtggcINSggggggtgctgctctatggt					rs116528562|rs142872531	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																					p.P606fs		Pindel,Atlas-Indel	.											.	BNC2	166	.	0			c.1818_1819insC						PASS	.																																			SO:0001589	frameshift_variant	54796	exon6			.	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs	Somatic	99	.	.		WXS	Illumina HiSeq	Phase_I	96	17	0.177	NM_017637		Frame_Shift_Ins	INS	ENST00000380672.4	37	CCDS6482.2																																																																																			.	.	none		0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		G	16436375	-	G	16436374	7	5	1	1	0	1	1	0	0	0	0	0	1475	755	27	0	1489	0	BNC2	9	16436374	Frame_Shift_Ins	INS	-	TCGA-FA-8693-01A-11D-2397-10	1577021	16436374	124777057	138	138										
TAF1L	138474	hgsc.bcm.edu	37	chr9	32631369	32631369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gactccaggatggatgacagCgtcaccatagggtctgtgcg	14	10	2	1	rs10971047	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:32631369C>T	ENST00000242310.4	-	1	4298	c.4209G>A	c.(4207-4209)acG>acA	p.T1403T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1403					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGATGACAGCGTCACCATAG	0.458													C|||	809	0.161542	0.1097	0.1182	5008	,	,		21985	0.3095		0.1034	False		,,,				2504	0.1697				p.T1403T		Atlas-SNP	.											TAF1L,NS,carcinoma,-1,1	TAF1L	382	1	0			c.G4209A						scavenged	.	C		374,4032	188.5+/-214.9	13,348,1842	297	272	280		4209	-0.9	0.9	9	dbSNP_120	280	893,7707	201.1+/-244.7	44,805,3451	no	coding-synonymous	TAF1L	NM_153809.2		57,1153,5293	TT,TC,CC		10.3837,8.4884,9.7417		1403/1827	32631369	1267,11739	2203	4300	6503	SO:0001819	synonymous_variant	138474	exon1			TGACAGCGTCACC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4209G>A	9.37:g.32631369C>T		Somatic	423	3	0.0070922		WXS	Illumina HiSeq	Phase_I	492	5	0.0101626	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																			C|0.873;T|0.127	0.127	strong		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32631369	C	T	32631369	2	4	1	1	0	0	0	0	0	0	0	1	15520	755	27	1		1	TAF1L	9	32631369	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	16194995	32631369	108582062	139	139										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797861	33797861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gactgggagagcacaacatcAaagtcctggaggggaatgag	15	7	1	2	rs151192741		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:33797861A>G	ENST00000361005.5	+	3	406	c.406A>G	c.(406-408)Aaa>Gaa	p.K136E	PRSS3_ENST00000429677.3_Missense_Mutation_p.K72E|PRSS3_ENST00000342836.4_Missense_Mutation_p.K93E|PRSS3_ENST00000379405.3_Missense_Mutation_p.K79E|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACAACATCAAAGTCCTGGA	0.562																																					p.K136E		Atlas-SNP	.											PRSS3_ENST00000361005,NS,carcinoma,-2,3	PRSS3	79	3	0			c.A406G						scavenged	.						162	140	147					9																	33797861		2203	4300	6503	SO:0001583	missense	5646	exon3			AACATCAAAGTCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.406A>G	9.37:g.33797861A>G	ENSP00000354280:p.Lys136Glu	Somatic	257	11	0.0428016		WXS	Illumina HiSeq	Phase_I	310	11	0.0354839	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	A	2.299	-0.360659	0.05103	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	3.62	-3.56	0.04626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.762692	0.13361	N	0.393640	T	0.71668	0.3367	N	0.13140	0.3	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.60801	-0.7191	10	0.05620	T	0.96	.	8.866	0.35286	0.4937:0.0:0.5063:0.0	.	79;136;93	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	E	136;91;93;72;79	ENSP00000354280:K136E;ENSP00000401249:K91E;ENSP00000340889:K93E;ENSP00000401828:K72E;ENSP00000368715:K79E	ENSP00000340889:K93E	K	+	1	0	PRSS3	33787861	0.007000	0.16637	0.044000	0.18714	0.056000	0.15407	1.581000	0.36558	-0.349000	0.08274	-1.351000	0.01236	AAA	.	.	weak		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		G	33797861	A	G	33797861	3	3	1	1	0	0	0	0	1	0	0	0	12622	131	5	2	460	2	PRSS3	9	33797861	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1166492	33797861	107415570	140	140										
DCAF12	25853	hgsc.bcm.edu	37	chr9	34107505	34107505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gggtcacacctccaggctccCggtctttcagaatggggatc	12	13	3	1	rs11557154	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:34107505C>T	ENST00000361264.4	-	3	733	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	131			R -> Q (in dbSNP:rs11557154). {ECO:0000269|PubMed:15489334}.		protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCAGGCTCCCGGTCTTTCAG	0.483													C|||	1137	0.227037	0.0106	0.2147	5008	,	,		19495	0.6012		0.1372	False		,,,				2504	0.2352				p.R131Q		Atlas-SNP	.											DCAF12,colon,carcinoma,+1,1	DCAF12	37	1	0			c.G392A						scavenged	.	C	GLN/ARG	151,4255	103.8+/-142.4	3,145,2055	104	100	102		392	4.2	1	9	dbSNP_120	102	1064,7536	222.9+/-259.8	78,908,3314	yes	missense	DCAF12	NM_015397.3	43	81,1053,5369	TT,TC,CC		12.3721,3.4271,9.3418	probably-damaging	131/454	34107505	1215,11791	2203	4300	6503	SO:0001583	missense	25853	exon3			GGCTCCCGGTCTT	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.392G>A	9.37:g.34107505C>T	ENSP00000355114:p.Arg131Gln	Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	CCDS6549.1	532	0.24358974358974358	10	0.02032520325203252	76	0.20994475138121546	335	0.5856643356643356	111	0.14643799472295516	C	22.7	4.325631	0.81580	0.034271	0.123721	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.30182	1.54;1.54;1.54	5.07	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.58101	1.795	0.20489	P	0.999890017	D	0.64830	0.994	P	0.47376	0.545	T	0.46735	-0.9170	9	0.31617	T	0.26	-22.0702	11.837	0.52330	0.0:0.9192:0.0:0.0808	rs11557154;rs17855881;rs11557154	131	Q5T6F0	DCA12_HUMAN	Q	131;113;110	ENSP00000355114:R131Q;ENSP00000380187:R113Q;ENSP00000415833:R110Q	ENSP00000355114:R131Q	R	-	2	0	DCAF12	34097505	1.000000	0.71417	0.976000	0.42696	0.769000	0.43574	7.287000	0.78681	1.368000	0.46115	0.655000	0.94253	CGG	C|0.846;T|0.154	0.154	strong		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		T	34107505	C	T	34107505	3	4	1	1	0	0	0	0	1	0	0	0	4263	652	23	1	997	1	DCAF12	9	34107505	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	309644	34107505	107105926	141	141										
FAM75A3	727830	hgsc.bcm.edu	37	chr9	40702760	40702760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggagcctcccagtcctctcaTgagcctatggaagatgctgc	11	13	1	2	rs192661010	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:40702760T>G	ENST00000356699.5	+	4	446	c.417T>G	c.(415-417)caT>caG	p.H139Q	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	139	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGTCCTCTCATGAGCCTATGG	0.597													T|||	514	0.102636	0.0885	0.1009	5008	,	,		20141	0.003		0.2286	False		,,,				2504	0.0961				p.H139Q		Atlas-SNP	.											FAM75A3_ENST00000356699,NS,carcinoma,+2,2	.	.	2	0			c.T417G						scavenged	.	T	GLN/HIS	382,3416		13,356,1530	53	63	60		417	-3.7	0	9	dbSNP_134	60	1741,6417		82,1577,2420	no	missense	FAM75A3	NM_001083124.1	24	95,1933,3950	GG,GT,TT		21.341,10.0579,17.7568	possibly-damaging	139/1348	40702760	2123,9833	1899	4079	5978	SO:0001583	missense	727830	exon4			CTCTCATGAGCCT			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.417T>G	9.37:g.40702760T>G	ENSP00000349132:p.His139Gln	Somatic	676	6	0.00887574		WXS	Illumina HiSeq	Phase_I	793	8	0.0100883	NM_001083124		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	T	1.786	-0.480697	0.04383	0.100579	0.21341	ENSG00000147926	ENST00000356699	T	0.03889	3.77	1.86	-3.73	0.04398	.	1.943840	0.02631	N	0.104336	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.12013	0.005	B	0.11329	0.006	T	0.45760	-0.9239	9	0.25106	T	0.35	0.3542	0.1983	0.00142	0.2674:0.2166:0.2878:0.2282	.	139	Q5VYP0	F75A3_HUMAN	Q	139	ENSP00000349132:H139Q	ENSP00000349132:H139Q	H	+	3	2	FAM75A3	40692760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.285000	0.02791	-1.013000	0.03383	-0.836000	0.03065	CAT	T|0.744;G|0.256	0.256	strong		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		G	40702760	T	G	40702760	3	3	1	1	0	0	0	0	1	0	0	0	5621	1461	51	5	431	5	FAM75A3	9	40702760	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	6595255	40702760	100510671	142	142										
C9orf79	286234	hgsc.bcm.edu	37	chr9	90499849	90499849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cacctgaggaagctcgctggCgaaggcagctcccacctgcc	12	16	0	1	rs148586576		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:90499849C>T	ENST00000325643.5	+	4	513	c.447C>T	c.(445-447)ggC>ggT	p.G149G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	149					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G149G(1)									AGCTCGCTGGCGAAGGCAGCT	0.657																																					p.G149G		Atlas-SNP	.											C9orf79,colon,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T						PASS	.	C		7,4399		0,7,2196	28	29	29		447	-1	0	9	dbSNP_134	29	1,8597		0,1,4298	no	coding-synonymous	C9orf79	NM_178828.4		0,8,6494	TT,TC,CC		0.0116,0.1589,0.0615		149/1446	90499849	8,12996	2203	4299	6502	SO:0001819	synonymous_variant	286234	exon4			CGCTGGCGAAGGC	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.447C>T	9.37:g.90499849C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	71	8	0.112676	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																			C|1.000;T|0.000	0.000	weak		0.657	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90499849	C	T	90499849	2	4	1	1	0	0	0	0	0	0	0	1	2497	755	27	1		1	C9orf79	9	90499849	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	49797089	90499849	50713582	143	143										
WNK2	65268	hgsc.bcm.edu	37	chr9	96055063	96055063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agatactctgccccacccgaCgtctacctggacgaggcccc	9	18	2	1	rs41278286	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:96055063C>T	ENST00000297954.4	+	23	5427	c.5427C>T	c.(5425-5427)gaC>gaT	p.D1809D	WNK2_ENST00000356055.3_Silent_p.D136D|WNK2_ENST00000395477.2_Silent_p.D1772D|WNK2_ENST00000349097.3_Silent_p.D1421D|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Silent_p.D1384D	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1809					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCACCCGACGTCTACCTGG	0.692													C|||	1965	0.392372	0.3487	0.2954	5008	,	,		13856	0.4206		0.3131	False		,,,				2504	0.5726				p.D1772D		Atlas-SNP	.											WNK2_ENST00000297954,colon,carcinoma,+2,4	WNK2	277	4	0			c.C5316T						scavenged	.	C		1467,2891		252,963,964	15	15	15		5316	-1.8	0.9	9	dbSNP_127	15	2457,6027		393,1671,2178	no	coding-synonymous	WNK2	NM_006648.3		645,2634,3142	TT,TC,CC		28.9604,33.6622,30.556		1772/2218	96055063	3924,8918	2179	4242	6421	SO:0001819	synonymous_variant	65268	exon22			ACCCGACGTCTAC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5427C>T	9.37:g.96055063C>T		Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		777|777	0.3557692307692308|0.3557692307692308	176|176	0.35772357723577236|0.35772357723577236	105|105	0.2900552486187845|0.2900552486187845	256|256	0.44755244755244755|0.44755244755244755	240|240	0.316622691292876|0.316622691292876	C|C	0.625|0.625	-0.819743|-0.819743	0.02776|0.02776	0.336622|0.336622	0.289604|0.289604	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.39|5.39	-1.75|-1.75	0.08031|0.08031	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999996005|0.9999999999996005	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46005|0.46005	-0.9222|-0.9222	3|3	.|.	.|.	.|.	.|.	11.3977|11.3977	0.49851|0.49851	0.0:0.3577:0.0:0.6423|0.0:0.3577:0.0:0.6423	rs41278286;rs57682323;rs61738874|rs41278286;rs57682323;rs61738874	.|.	.|.	.|.	C|M	1376|1768;569;294	.|.	.|.	R|T	+|+	1|2	0|0	WNK2|WNK2	95094884|95094884	0.000000|0.000000	0.05858|0.05858	0.908000|0.908000	0.35775|0.35775	0.064000|0.064000	0.16182|0.16182	-2.297000|-2.297000	0.01141|0.01141	-0.195000|-0.195000	0.10382|0.10382	-1.010000|-1.010000	0.02471|0.02471	CGT|ACG	C|0.672;T|0.328	0.328	strong		0.692	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96055063	C	T	96055063	2	4	1	1	0	0	0	0	0	0	0	1	17375	535	19	1		1	WNK2	9	96055063	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	5555214	96055063	45158368	144	144										
PTCH1	5727	hgsc.bcm.edu	37	chr9	98231221	98231221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgtgtcacggtgacgggctGcacagagatctcggagcgcg	16	11	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:98231221G>T	ENST00000331920.6	-	14	2361	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	PTCH1_ENST00000430669.2_Missense_Mutation_p.Q622K|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q537K|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q537K|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q687K|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q622K|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q537K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	688					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Q688*(1)|p.Q688K(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGACGGGCTGCACAGAGATC	0.632																																					p.Q688K		Atlas-SNP	.											PTCH1_ENST00000430669,colon,carcinoma,+1,18	PTCH1	1850	18	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|skin(1)	c.C2062A	GRCh37	CM971262	PTCH1	M		scavenged	.						125	118	121					9																	98231221		2203	4300	6503	SO:0001583	missense	5727	exon14			CGGGCTGCACAGA	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2062C>A	9.37:g.98231221G>T	ENSP00000332353:p.Gln688Lys	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	119	4	0.0336134	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143313	0.37825	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.89939	-2.59;-2.58;-2.56;-2.56;-2.58;-2.56;-2.59	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.24368	0.034;0.054;0.102;0.007	B;B;B;B	0.24394	0.053;0.047;0.031;0.005	T	0.80228	-0.1469	10	0.06625	T	0.88	-19.7364	18.1325	0.89606	0.0:0.0:1.0:0.0	.	537;622;687;688	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	K	688;622;537;537;124;622;537;687	ENSP00000332353:Q688K;ENSP00000389744:Q622K;ENSP00000399981:Q537K;ENSP00000396135:Q537K;ENSP00000410287:Q622K;ENSP00000414823:Q537K;ENSP00000364423:Q687K	ENSP00000332353:Q688K	Q	-	1	0	PTCH1	97271042	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.096000	0.94182	2.505000	0.84491	0.557000	0.71058	CAG	.	.	none		0.632	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98231221	G	T	98231221	3	4	1	1	0	0	0	0	1	0	0	0	12730	1328	46	4	2321	4	PTCH1	9	98231221	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2176158	98231221	42982210	145	145										
CDK5RAP2	55755	hgsc.bcm.edu	37	chr9	123342220	123342220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcagccgctgagcgtcccagGgacggtgacgtcctcttcca	13	15	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:123342220G>T	ENST00000349780.4	-	1	216	c.37C>A	c.(37-39)Cct>Act	p.P13T	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P13T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P13T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P13T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	13					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.P13S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCGTCCCAGGGACGGTGACG	0.652																																					p.P13T		Atlas-SNP	.											CDK5RAP2,NS,carcinoma,0,1	CDK5RAP2	157	1	1	Substitution - Missense(1)	lung(1)	c.C37A						scavenged	.						44	35	38					9																	123342220		2203	4300	6503	SO:0001583	missense	55755	exon1			TCCCAGGGACGGT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.37C>A	9.37:g.123342220G>T	ENSP00000343818:p.Pro13Thr	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	185	4	0.0216216	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745705	0.69418	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.05081	3.67;3.5;3.62;3.52	4.99	4.1	0.47936	.	0.454240	0.18929	N	0.127278	T	0.06872	0.0175	L	0.27053	0.805	0.26883	N	0.967492	B;B;B	0.28552	0.215;0.184;0.137	B;B;B	0.37047	0.24;0.227;0.121	T	0.25916	-1.0118	10	0.51188	T	0.08	.	9.563	0.39380	0.0958:0.0:0.9042:0.0	.	13;13;13	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	T	13	ENSP00000354065:P13T;ENSP00000352258:P13T;ENSP00000343818:P13T;ENSP00000353317:P13T	ENSP00000341695:P13T	P	-	1	0	CDK5RAP2	122382041	1.000000	0.71417	0.995000	0.50966	0.585000	0.36419	2.306000	0.43673	1.462000	0.47948	0.655000	0.94253	CCT	.	.	none		0.652	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		T	123342220	G	T	123342220	3	4	1	1	0	0	0	0	1	0	0	0	3146	1232	43	4	5796	4	CDK5RAP2	9	123342220	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	25110999	123342220	17871211	146	146										
FCN2	2220	hgsc.bcm.edu	37	chr9	137779176	137779176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cctcagggggactcatggcaGctttgcaaatggcatcaact	11	11	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr9:137779176G>A	ENST00000291744.6	+	8	867	c.857G>A	c.(856-858)aGc>aAc	p.S286N	FCN2_ENST00000350339.2_Missense_Mutation_p.S248N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	286	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTCATGGCAGCTTTGCAAAT	0.512																																					p.S286N		Atlas-SNP	.											.	FCN2	55	.	0			c.G857A						PASS	.						85	83	83					9																	137779176		2203	4300	6503	SO:0001583	missense	2220	exon8			ATGGCAGCTTTGC	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.857G>A	9.37:g.137779176G>A	ENSP00000291744:p.Ser286Asn	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	164	19	0.115854	NM_004108	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052816	0.55218	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.21361	2.01;2.01	4.05	4.05	0.47172	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.50627	D	0.000110	T	0.26304	0.0642	M	0.66297	2.02	0.22796	N	0.998726	B;B	0.29835	0.258;0.144	B;B	0.32724	0.064;0.151	T	0.19976	-1.0289	10	0.52906	T	0.07	.	13.7007	0.62606	0.0:0.0:1.0:0.0	.	248;286	Q15485-2;Q15485	.;FCN2_HUMAN	N	248;286	ENSP00000291741:S248N;ENSP00000291744:S286N	ENSP00000291744:S286N	S	+	2	0	FCN2	136918997	0.171000	0.23029	0.279000	0.24732	0.456000	0.32438	0.609000	0.24238	1.791000	0.52520	0.563000	0.77884	AGC	.	.	none		0.512	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		A	137779176	G	A	137779176	3	1	1	1	0	0	0	0	1	0	0	0	5792	971	34	2	887	2	FCN2	9	137779176	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	14436956	137779176	3434255	147	147										
CHAT	1103	hgsc.bcm.edu	37	chr10	50824117	50824117	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agatgtggccggaatgcagaGatgaagcactgagcacagta	14	7	0	4	rs1880676	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:50824117G>A	ENST00000337653.2	+	2	439				CHAT_ENST00000351556.3_Intron|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395562.2_Missense_Mutation_p.D7N	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase						adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAATGCAGAGATGAAGCACT	0.502													G|||	809	0.161542	0.0061	0.1686	5008	,	,		23013	0.1716		0.2316	False		,,,				2504	0.2843				p.D7N		Atlas-SNP	.											CHAT_ENST00000395562,NS,meningioma,0,1	CHAT	162	1	0			c.G19A						scavenged	.	G	,ASN/ASP,,,,,	157,2979		6,145,1417	205	171	181		,19,,,,,	3.2	0	10	dbSNP_92	181	1775,5389		221,1333,2028	yes	intron,missense,utr-5,intron,intron,intron,intron	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,23,,,,,	227,1478,3445	AA,AG,GG		24.7767,5.0064,18.7573	,,,,,,	,7/667,,,,,	50824117	1932,8368	1568	3582	5150	SO:0001627	intron_variant	1103	exon2			TGCAGAGATGAAG	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.287-431G>A	10.37:g.50824117G>A		Somatic	235	2	0.00851064		WXS	Illumina HiSeq	Phase_I	189	3	0.015873	NM_001142933	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	334	0.15293040293040294	5	0.01016260162601626	77	0.212707182320442	89	0.1555944055944056	163	0.21503957783641162	G	13.30	2.197365	0.38806	0.050064	0.247767	ENSG00000070748	ENST00000395562	D	0.85088	-1.94	3.16	3.16	0.36331	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.36813	P	0.11398900000000001	.	.	.	.	.	.	T	0.00984	-1.1491	5	0.87932	D	0	.	10.0691	0.42322	0.0:0.0:1.0:0.0	rs1880676;rs56499801;rs59491670;rs1880676	.	.	.	N	7	ENSP00000378929:D7N	ENSP00000378929:D7N	D	+	1	0	CHAT	50494123	0.004000	0.15560	0.013000	0.15412	0.005000	0.04900	1.413000	0.34725	2.090000	0.63153	0.655000	0.94253	GAT	G|0.836;A|0.164	0.164	strong		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		A	50824117	G	A	50824117	1	1	1	0	1	0	0	0	0	0	0	0	3313	942	33	2		2	CHAT	10	50824117	Intron	SNP	G	TCGA-FA-8693-01A-11D-2397-10		50824117	84710630	148	148										
KIAA0913	23053	hgsc.bcm.edu	37	chr10	75558867	75558867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gctcaccagtggttctggctGtatgagcaaactgcaggtgg	14	9	2	1	rs2271271	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:75558867G>A	ENST00000605216.1	+	21	4486	c.4269G>A	c.(4267-4269)ctG>ctA	p.L1423L	ZSWIM8_ENST00000604524.1_Intron|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000603114.1_Silent_p.L1390L|ZSWIM8_ENST00000604729.1_Silent_p.L1428L|ZSWIM8_ENST00000398706.2_Silent_p.L1428L|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1423							zinc ion binding (GO:0008270)	p.L1428L(1)									GGTTCTGGCTGTATGAGCAAA	0.587													A|||	2443	0.487819	0.4887	0.4755	5008	,	,		19612	0.2351		0.7575	False		,,,				2504	0.4785				p.L1428L		Atlas-SNP	.											KIAA0913_ENST00000398706,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.G4284A						scavenged	.	A	,,	2251,1787		629,993,397	70	77	75		4269,4269,4284	-7.4	0.8	10	dbSNP_100	75	6280,2072		2374,1532,270	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0913	NM_001242487.1,NM_001242488.1,NM_015037.3	,,	3003,2525,667	AA,AG,GG		24.8084,44.2546,31.1461	,,	1423/1838,1423/1893,1428/1843	75558867	8531,3859	2019	4176	6195	SO:0001819	synonymous_variant	23053	exon21			CTGGCTGTATGAG	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4269G>A	10.37:g.75558867G>A		Somatic	225	2	0.00888889		WXS	Illumina HiSeq	Phase_I	230	6	0.026087	NM_015037	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37		1133|1133	0.5187728937728938|0.5187728937728938	242|242	0.491869918699187|0.491869918699187	199|199	0.5497237569060773|0.5497237569060773	134|134	0.23426573426573427|0.23426573426573427	558|558	0.7361477572559367|0.7361477572559367	A|A	6.766|6.766	0.510148|0.510148	0.12883|0.12883	0.557454|0.557454	0.751916|0.751916	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000433366	.|.	.|.	.|.	5.59|5.59	-7.37|-7.37	0.01412|0.01412	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999095434|0.9999999999095434	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26087|0.26087	-1.0113|-1.0113	3|3	.|.	.|.	.|.	-3.31|-3.31	7.2207|7.2207	0.25985|0.25985	0.1379:0.0839:0.5369:0.2413|0.1379:0.0839:0.5369:0.2413	rs2271271;rs58670385;rs2271271|rs2271271;rs58670385;rs2271271	.|.	.|.	.|.	Y|I	698|1139	.|.	.|.	C|V	+|+	2|1	0|0	KIAA0913|KIAA0913	75228873|75228873	0.217000|0.217000	0.23597|0.23597	0.814000|0.814000	0.32528|0.32528	0.981000|0.981000	0.71138|0.71138	-0.488000|-0.488000	0.06497|0.06497	-1.254000|-1.254000	0.02485|0.02485	-0.982000|-0.982000	0.02568|0.02568	TGT|GTA	G|0.465;A|0.535	0.535	strong		0.587	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		A	75558867	G	A	75558867	2	1	1	1	0	0	0	0	0	0	0	1	8200	1364	48	2		2	KIAA0913	10	75558867	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	24734750	75558867	59975880	149	149										
SFTPD	6441	hgsc.bcm.edu	37	chr10	81702260	81702260	+	Splice_Site	SNP	C	C	T													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caccgggaggtcctggaggtCctgagcaaaagcaccagccc							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:81702260C>T	ENST00000372292.3	-	4	357	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	106	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCTGGAGGTCCTGAGCAAAA	0.567																																					p.G106E		Atlas-SNP	.											.	SFTPD	43	.	0			c.G317A						PASS	.						58	57	57					10																	81702260		2203	4300	6503	SO:0001630	splice_region_variant	6441	exon4			GGAGGTCCTGAGC	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.317-1G>A	10.37:g.81702260C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	61	8	0.131148	NM_003019	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951636	0.53186	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.99353	-4.61;-5.77	5.02	4.1	0.47936	.	0.000000	0.56097	D	0.000031	D	0.98883	0.9622	H	0.96889	3.9	0.39145	D	0.96211	P	0.38711	0.643	B	0.34489	0.184	D	0.98750	1.0720	10	0.87932	D	0	.	9.683	0.40080	0.0:0.9007:0.0:0.0993	.	106	P35247	SFTPD_HUMAN	E	106;119	ENSP00000361366:G106E;ENSP00000394325:G119E	ENSP00000361366:G106E	G	-	2	0	SFTPD	81692240	1.000000	0.71417	0.948000	0.38648	0.427000	0.31564	2.235000	0.43044	1.068000	0.40764	0.457000	0.33378	GGA	.	.	none		0.567	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		Missense_Mutation	T	81702260	C	T	81702260	5	4	1	1	0	0	0	0	0	0	1	0	14193	869	30	2	830	2	SFTPD	10	81702260	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	6143393	81702260	53832487	150	150	4	2								
SFTPD	6441	hgsc.bcm.edu	37	chr10	81702261	81702261	+	Splice_Site	SNP	C	C	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	accgggaggtcctggaggtcCtgagcaaaagcaccagcccg							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:81702261C>A	ENST00000372292.3	-	4	357		c.e4-1			NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D						defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCTGGAGGTCCTGAGCAAAAG	0.572																																					.		Atlas-SNP	.											.	SFTPD	43	.	0			c.317-1G>T						PASS	.						57	56	56					10																	81702261		2203	4300	6503	SO:0001630	splice_region_variant	6441	exon5			GAGGTCCTGAGCA	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.317-1G>T	10.37:g.81702261C>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	61	8	0.131148	NM_003019	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Splice_Site	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	c	13.45	2.241591	0.39598	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8133	0.63276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFTPD	81692241	1.000000	0.71417	0.938000	0.37757	0.374000	0.29953	4.668000	0.61568	2.311000	0.77944	0.457000	0.33378	.	.	.	none		0.572	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		Intron	A	81702261	C	A	81702261	5	1	1	1	0	0	0	0	0	0	1	0	14193	695	24	4	831	4	SFTPD	10	81702261	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1	81702261	53832486	151	151	4	2								
SH2D4B	387694	hgsc.bcm.edu	37	chr10	82329986	82329986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tggatcatgggagaaggcccTggtgacaagccctacgaaga	14	9	1	3	rs192169537		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:82329986T>C	ENST00000470604.2	+	2	258	c.258T>C	c.(256-258)ccT>ccC	p.P86P	SH2D4B_ENST00000339284.2_Silent_p.P87P|SH2D4B_ENST00000313455.4_Silent_p.P38P			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	86										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAGAAGGCCCTGGTGACAAGC	0.572																																					p.P87P		Atlas-SNP	.											.	SH2D4B	44	.	0			c.T261C						PASS	.						99	97	98					10																	82329986		2203	4300	6503	SO:0001819	synonymous_variant	387694	exon2			AGGCCCTGGTGAC		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.258T>C	10.37:g.82329986T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	127	22	0.173228	NM_207372	Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37																																																																																				T|1.000;A|0.000	.	alt		0.572	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		C	82329986	T	C	82329986	2	2	1	1	0	0	0	0	0	0	0	1	14236	1567	55	3		3	SH2D4B	10	82329986	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	627725	82329986	53204761	152	152										
NRG3	10718	hgsc.bcm.edu	37	chr10	84498369	84498369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caaggagtccgttgtgatcaAtttctgccgaaaactgattc	9	9	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:84498369A>G	ENST00000404547.1	+	3	990	c.990A>G	c.(988-990)caA>caG	p.Q330Q	NRG3_ENST00000556918.1_Silent_p.Q160Q|NRG3_ENST00000372141.2_Silent_p.Q330Q|NRG3_ENST00000372142.2_Silent_p.Q109Q|NRG3_ENST00000404576.2_Silent_p.Q134Q			P56975	NRG3_HUMAN	neuregulin 3	330					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTTGTGATCAATTTCTGCCGA	0.398																																					p.Q330Q		Atlas-SNP	.											.	NRG3	301	.	0			c.A990G						PASS	.						161	142	149					10																	84498369		2203	4300	6503	SO:0001819	synonymous_variant	10718	exon3			TGATCAATTTCTG	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.990A>G	10.37:g.84498369A>G		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	213	40	0.187793	NM_001165972	A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	CCDS31233.1																																																																																			.	.	none		0.398	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		G	84498369	A	G	84498369	2	3	1	1	0	0	0	0	0	0	0	1	10649	98	4	2		2	NRG3	10	84498369	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2168383	84498369	51036378	153	153										
C10orf129	142827	hgsc.bcm.edu	37	chr10	96971738	96971738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgggaacttggttccaaggaGcctgtgtgtttctgtgtcac	13	8	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:96971738G>T	ENST00000394005.3	+	5	868	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	C10orf129_ENST00000341686.3_Missense_Mutation_p.A287S|C10orf129_ENST00000430183.1_Missense_Mutation_p.A132S			Q6P461	ACSM6_HUMAN		287					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.A287S(1)|p.A132S(1)		breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GTTCCAAGGAGCCTGTGTGTT	0.498																																					p.A287S		Atlas-SNP	.											C10orf129_ENST00000341686,extremity,malignant_melanoma,0,2	C10orf129	52	2	2	Substitution - Missense(2)	skin(2)	c.G859T						scavenged	.						199	171	180					10																	96971738		2203	4300	6503	SO:0001583	missense	142827	exon6			CAAGGAGCCTGTG																												ENST00000394005.3:c.859G>T	10.37:g.96971738G>T	ENSP00000377573:p.Ala287Ser	Somatic	478	29	0.0606695		WXS	Illumina HiSeq	Phase_I	514	26	0.0505837	NM_207321	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001602	0.54254	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.50277	0.75;0.75;0.75	1.84	-0.578	0.11724	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.49064	0.1535	L	0.48986	1.54	0.20563	N	0.999889	P	0.50710	0.938	P	0.59115	0.852	T	0.35822	-0.9773	9	0.32370	T	0.25	.	2.6332	0.04950	0.3173:0.0:0.46:0.2227	.	287	Q6P461	ACSM6_HUMAN	S	313;287;132;287	ENSP00000340296:A287S;ENSP00000400368:A132S;ENSP00000377573:A287S	ENSP00000340296:A287S	A	+	1	0	C10orf129	96961728	0.226000	0.23696	0.175000	0.22980	0.964000	0.63967	0.127000	0.15790	-0.304000	0.08843	0.454000	0.30748	GCC	.	.	none		0.498	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			T	96971738	G	T	96971738	3	4	1	1	0	0	0	0	1	0	0	0	1593	971	34	4	877	4	C10orf129	10	96971738	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	12473369	96971738	38563009	154	154										
PDLIM1	9124	hgsc.bcm.edu	37	chr10	96998439	96998439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atcctgagggcttgttgggaTcccctgaaatgaggaaaaca	12	8	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:96998439T>C	ENST00000329399.6	-	6	797	c.689A>G	c.(688-690)gAt>gGt	p.D230G	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	230					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTTGTTGGGATCCCCTGAAAT	0.433																																					p.D230G		Atlas-SNP	.											.	PDLIM1	33	.	0			c.A689G						PASS	.						80	72	74					10																	96998439		2203	4300	6503	SO:0001583	missense	9124	exon6			TTGGGATCCCCTG	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.689A>G	10.37:g.96998439T>C	ENSP00000360305:p.Asp230Gly	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	225	46	0.204444	NM_020992	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399588	0.83120	.	.	ENSG00000107438	ENST00000329399	T	0.21734	1.99	5.23	5.23	0.72850	.	0.088256	0.85682	D	0.000000	T	0.37183	0.0994	M	0.68317	2.08	0.80722	D	1	D	0.61080	0.989	P	0.55749	0.783	T	0.09907	-1.0653	10	0.37606	T	0.19	-18.4018	14.2967	0.66318	0.0:0.0:0.0:1.0	.	230	O00151	PDLI1_HUMAN	G	230	ENSP00000360305:D230G	ENSP00000360305:D230G	D	-	2	0	PDLIM1	96988429	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.491000	0.81471	1.978000	0.57642	0.454000	0.30748	GAT	.	.	none		0.433	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			C	96998439	T	C	96998439	3	2	1	1	0	0	0	0	1	0	0	0	11679	1435	50	2	308	2	PDLIM1	10	96998439	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	26701	96998439	38536308	155	155										
SLIT1	6585	hgsc.bcm.edu	37	chr10	98802756	98802756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggttccccgtcacgatcttgCgcttccgtagccagcctcct	9	17	2	0	rs144930720		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:98802756C>T	ENST00000266058.4	-	20	2311	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R689H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	689	LRRCT 3.				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)		CACGATCTTGCGCTTCCGTAG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20013	0.0		0.0	False		,,,				2504	0.0				p.R689H		Atlas-SNP	.											SLIT1,NS,lymphoid_neoplasm,0,1	SLIT1	154	1	0			c.G2066A						scavenged	.						65	60	62					10																	98802756		2203	4300	6503	SO:0001583	missense	6585	exon20			ATCTTGCGCTTCC	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.2066G>A	10.37:g.98802756C>T	ENSP00000266058:p.Arg689His	Somatic	155	2	0.0129032		WXS	Illumina HiSeq	Phase_I	119	3	0.0252101	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	22.4	4.278640	0.80692	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.81163	-1.46;-1.46;0.47	4.73	3.83	0.44106	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.91;0.997	D	0.86950	0.2085	10	0.56958	D	0.05	.	12.8219	0.57698	0.0:0.9211:0.0:0.0789	.	699;689	E7EWQ8;O75093	.;SLIT1_HUMAN	H	689;699;689;682	ENSP00000266058:R689H;ENSP00000360109:R689H;ENSP00000315005:R682H	ENSP00000266058:R689H	R	-	2	0	SLIT1	98792746	1.000000	0.71417	0.965000	0.40720	0.698000	0.40448	4.479000	0.60236	1.209000	0.43321	0.561000	0.74099	CGC	C|1.000;T|0.000	0.000	strong		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		T	98802756	C	T	98802756	3	4	1	1	0	0	0	0	1	0	0	0	14739	768	27	1	2610	1	SLIT1	10	98802756	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1804317	98802756	36731991	156	156										
DUSP5	1847	hgsc.bcm.edu	37	chr10	112266771	112266771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agtgcgagttcctcgccaacCtgcacatcacagccctgctg	9	16	1	0	rs1889567	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:112266771C>T	ENST00000369583.3	+	3	891	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	203	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L203L(1)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCTCGCCAACCTGCACATCAC	0.582													C|||	1420	0.283546	0.2753	0.2406	5008	,	,		19623	0.376		0.2853	False		,,,				2504	0.228				p.L203L		Atlas-SNP	.											DUSP5_ENST00000369583,NS,carcinoma,0,1	DUSP5	62	1	1	Substitution - coding silent(1)	stomach(1)	c.C607T						scavenged	.	C		1321,3085	444.7+/-347.4	211,899,1093	214	208	210		607	3.4	1	10	dbSNP_92	210	2757,5843	439.7+/-359.3	457,1843,2000	no	coding-synonymous	DUSP5	NM_004419.3		668,2742,3093	TT,TC,CC		32.0581,29.9818,31.3548		203/385	112266771	4078,8928	2203	4300	6503	SO:0001819	synonymous_variant	1847	exon3			GCCAACCTGCACA	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.607C>T	10.37:g.112266771C>T		Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	271	4	0.0147601	NM_004419	Q12997|Q5T603	Silent	SNP	ENST00000369583.3	37	CCDS7566.1																																																																																			C|0.692;T|0.308	0.308	strong		0.582	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		T	112266771	C	T	112266771	2	4	1	1	0	0	0	0	0	0	0	1	4828	680	24	2		2	DUSP5	10	112266771	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	13464015	112266771	23267976	157	157										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124340397	124340397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cacagctccccagtcccggcCgacacccagcccaggtaggt	10	19	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:124340397C>T	ENST00000338354.3	+	11	1125	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	DMBT1_ENST00000368955.3_Missense_Mutation_p.P340L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P340L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P340L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P208L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P340L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P340L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	340					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGTCCCGGCCGACACCCAGC	0.532																																					p.P340L	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											DMBT1_ENST00000368915,NS,carcinoma,-1,13	DMBT1	677	13	0			c.C1019T						scavenged	.						449	390	409					10																	124340397		1913	4113	6026	SO:0001583	missense	1755	exon11			CCCGGCCGACACC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1019C>T	10.37:g.124340397C>T	ENSP00000342210:p.Pro340Leu	Somatic	726	2	0.00275482		WXS	Illumina HiSeq	Phase_I	784	158	0.201531	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	C	5.419	0.262446	0.10294	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.25579	1.82;1.83;1.81;1.82;1.83;1.81;1.79	1.45	1.45	0.22620	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B;P;B;D;B	0.55800	0.11;0.036;0.704;0.001;0.973;0.293	B;B;B;B;P;B	0.45343	0.018;0.004;0.041;0.001;0.477;0.034	T	0.08106	-1.0738	9	0.11182	T	0.66	.	6.398	0.21622	0.0:1.0:0.0:0.0	.	208;340;340;340;340;340	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	L	340;340;340;340;340;340;340;340;340;340;340;340;340;208	ENSP00000342210:P340L;ENSP00000343175:P340L;ENSP00000327747:P340L;ENSP00000357905:P340L;ENSP00000357951:P340L;ENSP00000357952:P340L;ENSP00000352593:P208L	ENSP00000331522:P340L	P	+	2	0	DMBT1	124330387	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.841000	0.27613	1.165000	0.42670	0.194000	0.17425	CCG	.	.	none		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124340397	C	T	124340397	3	4	1	1	0	0	0	0	1	0	0	0	4577	652	23	1	1061	1	DMBT1	10	124340397	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	12073626	124340397	11194350	158	158										
DOCK1	1793	hgsc.bcm.edu	37	chr10	128807004	128807004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttttgtctccagtgatggatGtaacagatataataaatgga	9	4	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr10:128807004G>A	ENST00000280333.6	+	11	1103	c.994G>A	c.(994-996)Gta>Ata	p.V332I	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	332					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATGGATGTAACAGATAT	0.353																																					p.V332I		Atlas-SNP	.											.	DOCK1	188	.	0			c.G994A						PASS	.						77	76	76					10																	128807004		1953	4194	6147	SO:0001583	missense	1793	exon11			ATGGATGTAACAG	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.994G>A	10.37:g.128807004G>A	ENSP00000280333:p.Val332Ile	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	107	14	0.130841	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	7.557	0.663827	0.14710	.	.	ENSG00000150760	ENST00000280333	T	0.16457	2.34	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.00280	-1.71	0.54753	D	0.999984	B;B	0.16166	0.008;0.016	B;B	0.14023	0.01;0.01	T	0.40905	-0.9538	10	0.02654	T	1	.	18.5603	0.91097	0.0:0.0:1.0:0.0	.	332;332	B2RUU3;Q14185	.;DOCK1_HUMAN	I	332	ENSP00000280333:V332I	ENSP00000280333:V332I	V	+	1	0	DOCK1	128696994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.530000	0.81962	2.624000	0.88883	0.650000	0.86243	GTA	.	.	none		0.353	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	128807004	G	A	128807004	3	1	1	1	0	0	0	0	1	0	0	0	4684	1377	48	2	1036	2	DOCK1	10	128807004	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	4466607	128807004	6727743	159	159										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017316	1017316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgtggtgtgagggtgtgatgGggttggataggtagtggtgg	23	0	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:1017316G>T	ENST00000421673.2	-	31	5535	c.5485C>A	c.(5485-5487)Cca>Aca	p.P1829T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1829	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTGTGATGGGGTTGGATAG	0.547																																					p.P1829T		Atlas-SNP	.											MUC6_ENST00000421673,right_upper_lobe,carcinoma,+1,2	MUC6	408	2	0			c.C5485A						scavenged	.																																			SO:0001583	missense	4588	exon31			GTGATGGGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5485C>A	11.37:g.1017316G>T	ENSP00000406861:p.Pro1829Thr	Somatic	1645	57	0.0346505		WXS	Illumina HiSeq	Phase_I	1796	82	0.045657	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335327	0.24253	.	.	ENSG00000184956	ENST00000421673	T	0.24723	1.84	3.21	-0.343	0.12632	.	.	.	.	.	T	0.30355	0.0762	L	0.52126	1.63	0.09310	N	1	D	0.54964	0.969	P	0.61477	0.889	T	0.17531	-1.0366	9	0.02654	T	1	.	7.2552	0.26173	0.0:0.2939:0.4065:0.2996	.	1829	Q6W4X9	MUC6_HUMAN	T	1829	ENSP00000406861:P1829T	ENSP00000406861:P1829T	P	-	1	0	MUC6	1007316	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.664000	0.05292	-0.177000	0.10690	0.313000	0.20887	CCA	.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017316	G	T	1017316	3	4	1	1	0	0	0	0	1	0	0	0	9980	1232	43	4	1846	4	MUC6	11	1017316	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10		1017316	133989200	160	160										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608396	4608396	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtgagcatcttctgctcaggAgacagctcaatcagctttag	10	10	5	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:4608396A>C	ENST00000312614.4	+	1	376	c.354A>C	c.(352-354)ggA>ggC	p.G118G		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCTCAGGAGACAGCTCAA	0.512																																					p.G118G		Atlas-SNP	.											.	OR52I2	50	.	0			c.A354C						PASS	.						201	189	193					11																	4608396		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTCAGGAGACAGC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.354A>C	11.37:g.4608396A>C		Somatic	503	1	0.00198807		WXS	Illumina HiSeq	Phase_I	572	149	0.26049	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			.	.	none		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		C	4608396	A	C	4608396	2	2	1	1	0	0	0	0	0	0	0	1	11121	291	11	5		5	OR52I2	11	4608396	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	3591080	4608396	130398120	161	161										
OR56B4	196335	hgsc.bcm.edu	37	chr11	6129720	6129720	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgctgaggctgaactcagcaGaagcaatgtccaaggctctg	12	10	2	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:6129720G>T	ENST00000316529.3	+	1	807	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E238*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTCAGCAGAAGCAATGTC	0.493																																					p.E238X		Atlas-SNP	.											OR56B4,bladder,carcinoma,0,1	OR56B4	50	1	1	Substitution - Nonsense(1)	urinary_tract(1)	c.G712T						scavenged	.						175	157	163					11																	6129720		2201	4296	6497	SO:0001587	stop_gained	196335	exon1			TCAGCAGAAGCAA	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.712G>T	11.37:g.6129720G>T	ENSP00000321196:p.Glu238*	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	153	3	0.0196078	NM_001005181	Q6IFD7	Nonsense_Mutation	SNP	ENST00000316529.3	37	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380020	0.42207	.	.	ENSG00000180919	ENST00000316529	.	.	.	4.06	3.15	0.36227	.	0.000000	0.37857	U	0.001904	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.3722	0.55261	0.0868:0.0:0.9132:0.0	.	.	.	.	X	238	.	ENSP00000321196:E238X	E	+	1	0	OR56B4	6086296	0.853000	0.29707	0.648000	0.29521	0.004000	0.04260	2.090000	0.41682	0.997000	0.38969	-0.347000	0.07816	GAA	.	.	none		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		T	6129720	G	T	6129720	4	4	1	1	0	0	0	0	0	1	0	0	11138	943	33	4	714	4	OR56B4	11	6129720	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1521324	6129720	128876796	162	162										
RBMXL2	27288	hgsc.bcm.edu	37	chr11	7111451	7111451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccagcgtgattcttacagccGgtcaggctgcagggtgccca	13	13	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:7111451G>T	ENST00000306904.5	+	1	1287	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTTACAGCCGGTCAGGCTGC	0.652																																					p.R367L		Atlas-SNP	.											.	RBMXL2	47	.	0			c.G1100T						PASS	.						12	14	14					11																	7111451		2198	4295	6493	SO:0001583	missense	27288	exon1			ACAGCCGGTCAGG	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1100G>T	11.37:g.7111451G>T	ENSP00000304139:p.Arg367Leu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	67	14	0.208955	NM_014469	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170468	0.38315	.	.	ENSG00000170748	ENST00000306904	T	0.76448	-1.02	3.97	3.97	0.46021	.	0.162448	0.51477	U	0.000087	T	0.69931	0.3166	L	0.47716	1.5	0.29826	N	0.830395	P	0.48764	0.915	B	0.38712	0.28	T	0.74509	-0.3642	10	0.66056	D	0.02	.	14.3415	0.66630	0.0:0.0:1.0:0.0	.	367	O75526	HNRGT_HUMAN	L	367	ENSP00000304139:R367L	ENSP00000304139:R367L	R	+	2	0	RBMXL2	7068027	1.000000	0.71417	0.920000	0.36463	0.112000	0.19704	6.007000	0.70731	2.492000	0.84095	0.655000	0.94253	CGG	.	.	none		0.652	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		T	7111451	G	T	7111451	3	4	1	1	0	0	0	0	1	0	0	0	13154	1116	39	4	1102	4	RBMXL2	11	7111451	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	981731	7111451	127895065	163	163										
INSC	387755	hgsc.bcm.edu	37	chr11	15267551	15267551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctcggctggtggactccttcTtactctgcagcaacatggag	11	12	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:15267551T>G	ENST00000379554.3	+	13	1751	c.1705T>G	c.(1705-1707)Tta>Gta	p.L569V	INSC_ENST00000379556.3_Missense_Mutation_p.L522V|INSC_ENST00000530161.1_Missense_Mutation_p.L522V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.L480V|INSC_ENST00000424273.1_Missense_Mutation_p.L480V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	569					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGACTCCTTCTTACTCTGCAG	0.547																																					p.L569V		Atlas-SNP	.											.	INSC	104	.	0			c.T1705G						PASS	.						122	124	123					11																	15267551		1986	4160	6146	SO:0001583	missense	387755	exon13			TCCTTCTTACTCT	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1705T>G	11.37:g.15267551T>G	ENSP00000368872:p.Leu569Val	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	214	40	0.186916	NM_001031853	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320930	0.81580	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000530161;ENST00000525218	T;T;T;T;T	0.50277	0.75;0.79;0.94;0.79;0.94	6.17	3.57	0.40892	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.58566	0.2131	L	0.53249	1.67	0.38663	D	0.952138	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.87578	0.998;0.986;0.996	T	0.61950	-0.6957	10	0.66056	D	0.02	-7.5535	6.8426	0.23971	0.0:0.2948:0.0:0.7052	.	557;480;569	Q1MX18-5;Q1MX18-4;Q1MX18	.;.;INSC_HUMAN	V	569;522;480;522;480	ENSP00000368872:L569V;ENSP00000368874:L522V;ENSP00000389161:L480V;ENSP00000436194:L522V;ENSP00000436113:L480V	ENSP00000368872:L569V	L	+	1	2	INSC	15224127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.660000	0.37397	1.158000	0.42547	0.533000	0.62120	TTA	.	.	none		0.547	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		G	15267551	T	G	15267551	3	3	1	1	0	0	0	0	1	0	0	0	7764	1606	56	5	1755	5	INSC	11	15267551	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	8156100	15267551	119738965	164	164										
OR4C3	256144	hgsc.bcm.edu	37	chr11	48347041	48347041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcttcctgcattcattggtTcagctcctcctggtcctttg	9	13	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:48347041T>C	ENST00000319856.4	+	1	570	c.549T>C	c.(547-549)gtT>gtC	p.V183V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, 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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATTCATTGGTTCAGCTCCTCC	0.527																																					p.V183V		Atlas-SNP	.											.	OR4C3	75	.	0			c.T549C						PASS	.						155	144	148					11																	48347041		2201	4298	6499	SO:0001819	synonymous_variant	256144	exon1			ATTGGTTCAGCTC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.549T>C	11.37:g.48347041T>C		Somatic	347	0	0		WXS	Illumina HiSeq	Phase_I	361	26	0.0720222	NM_001004702	B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	CCDS31489.1																																																																																			.	.	none		0.527	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		C	48347041	T	C	48347041	2	2	1	1	0	0	0	0	0	0	0	1	11050	1770	62	2		2	OR4C3	11	48347041	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	33079490	48347041	86659475	165	165										
OR8J1	219477	hgsc.bcm.edu	37	chr11	56128081	56128081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	catgctggctttgatggcctAtgaccgctatgtggctattt	11	9	0	2	rs10896290	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:56128081A>G	ENST00000303039.3	+	1	391	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	120			Y -> C (in dbSNP:rs10896290). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTGATGGCCTATGACCGCTAT	0.488													A|||	1103	0.220248	0.2542	0.1873	5008	,	,		18213	0.1369		0.328	False		,,,				2504	0.1728				p.Y120C		Atlas-SNP	.											OR8J1,head_neck,carcinoma,0,1	OR8J1	87	1	0			c.A359G						scavenged	.	A	CYS/TYR	1238,3164	425.5+/-340.8	183,872,1146	149	137	141		359	4.8	1	11	dbSNP_120	141	2939,5653	458.5+/-364.6	521,1897,1878	yes	missense	OR8J1	NM_001005205.2	194	704,2769,3024	GG,GA,AA		34.2062,28.1236,32.1456	benign	120/317	56128081	4177,8817	2201	4296	6497	SO:0001583	missense	219477	exon1			TGGCCTATGACCG	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.359A>G	11.37:g.56128081A>G	ENSP00000304060:p.Tyr120Cys	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	266	4	0.0150376	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	524	0.23992673992673993	112	0.22764227642276422	68	0.1878453038674033	88	0.15384615384615385	256	0.33773087071240104	A	12.19	1.863321	0.32884	0.281236	0.342062	ENSG00000172487	ENST00000303039	T	0.00490	7.03	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.00012	0.0000	M	0.91196	3.185	0.33499	P	0.41034099999999996	B	0.24651	0.108	B	0.29942	0.109	T	0.39014	-0.9634	9	0.72032	D	0.01	.	13.3744	0.60730	1.0:0.0:0.0:0.0	rs10896290;rs52824219;rs59409905;rs10896290	120	Q8NGP2	OR8J1_HUMAN	C	120	ENSP00000304060:Y120C	ENSP00000304060:Y120C	Y	+	2	0	OR8J1	55884657	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.624000	0.54231	1.910000	0.55303	0.523000	0.50628	TAT	A|0.712;G|0.288	0.288	strong		0.488	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		G	56128081	A	G	56128081	3	3	1	1	0	0	0	0	1	0	0	0	11241	449	16	2	361	2	OR8J1	11	56128081	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	7781040	56128081	78878435	166	166										
OR5AP2	338675	hgsc.bcm.edu	37	chr11	56409697	56409697	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gagtaagaggcatctacaaaAgagaggctactgagaaagaa	12	5	1	4			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:56409697A>C	ENST00000302981.1	-	1	218	c.219T>G	c.(217-219)tcT>tcG	p.S73S	OR5AP2_ENST00000544374.1_Silent_p.S74S	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CATCTACAAAAGAGAGGCTAC	0.443																																					p.S73S		Atlas-SNP	.											.	OR5AP2	69	.	0			c.T219G						PASS	.						65	64	65					11																	56409697		2201	4296	6497	SO:0001819	synonymous_variant	338675	exon1			TACAAAAGAGAGG	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.219T>G	11.37:g.56409697A>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	102	15	0.147059	NM_001002925	B2RNM8	Silent	SNP	ENST00000302981.1	37	CCDS31534.1																																																																																			.	.	none		0.443	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		C	56409697	A	C	56409697	2	2	1	1	0	0	0	0	0	0	0	1	11144	59	3	5		5	OR5AP2	11	56409697	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	281616	56409697	78596819	167	167										
SLC22A25	387601	hgsc.bcm.edu	37	chr11	62997098	62997098	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aatctccccaggcctccaacTtgatctaggaggtcctgaaa	8	13	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:62997098T>G	ENST00000306494.6	-	1	26	c.27A>C	c.(25-27)caA>caC	p.Q9H	SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGCCTCCAACTTGATCTAGGA	0.438																																					p.Q9H		Atlas-SNP	.											SLC22A25,right_upper_lobe,carcinoma,-2,1	SLC22A25	87	1	0			c.A27C						PASS	.						47	51	50					11																	62997098		2201	4298	6499	SO:0001583	missense	387601	exon1			TCCAACTTGATCT	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.27A>C	11.37:g.62997098T>G	ENSP00000307443:p.Gln9His	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	13	0.240741	NM_199352		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	T	2.589	-0.295687	0.05532	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.36157	1.27	3.98	0.0938	0.14478	.	0.474947	0.22983	N	0.053281	T	0.28995	0.0720	M	0.65677	2.01	0.24828	N	0.992545	B;B	0.20671	0.01;0.047	B;B	0.23419	0.019;0.046	T	0.17531	-1.0366	10	0.30854	T	0.27	.	3.2687	0.06874	0.1778:0.3193:0.0:0.503	.	7;9	A4IF29;Q6T423	.;S22AP_HUMAN	H	9	ENSP00000307443:Q9H	ENSP00000307443:Q9H	Q	-	3	2	SLC22A25	62753674	0.256000	0.24012	0.031000	0.17742	0.131000	0.20780	1.426000	0.34870	0.062000	0.16340	0.386000	0.25728	CAA	.	.	none		0.438	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		G	62997098	T	G	62997098	3	3	1	1	0	0	0	0	1	0	0	0	14454	1606	56	5	1652	5	SLC22A25	11	62997098	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	6587401	62997098	72009418	168	168										
PPFIA1	8500	hgsc.bcm.edu	37	chr11	70171055	70171055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctccagcaggcgtgtccagcGaagtggaagtgctgaaagca	14	10	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:70171055G>A	ENST00000253925.7	+	4	684	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E157K|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	157					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTGTCCAGCGAAGTGGAAGT	0.507																																					p.E157K		Atlas-SNP	.											.	PPFIA1	114	.	0			c.G469A						PASS	.						95	96	96					11																	70171055		2200	4294	6494	SO:0001583	missense	8500	exon4			TCCAGCGAAGTGG	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.469G>A	11.37:g.70171055G>A	ENSP00000253925:p.Glu157Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	95	22	0.231579	NM_177423	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665691	0.96745	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.46451	0.87;0.87;0.87	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.59804	-0.7385	10	0.87932	D	0	.	19.2525	0.93930	0.0:0.0:1.0:0.0	.	157;157	Q13136;Q13136-2	LIPA1_HUMAN;.	K	157	ENSP00000253925:E157K;ENSP00000374198:E157K;ENSP00000432722:E157K	ENSP00000253925:E157K	E	+	1	0	PPFIA1	69848703	1.000000	0.71417	0.791000	0.31998	0.687000	0.40016	9.522000	0.98032	2.617000	0.88574	0.650000	0.86243	GAA	.	.	none		0.507	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		A	70171055	G	A	70171055	3	1	1	1	0	0	0	0	1	0	0	0	12309	1059	37	1	479	1	PPFIA1	11	70171055	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	7173957	70171055	64835461	169	169										
PDE2A	5138	hgsc.bcm.edu	37	chr11	72301503	72301503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggatcttgcggtcgcggtcgGtgtacgccgccccgcccttc	14	16	1	0	rs341047	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:72301503G>A	ENST00000334456.5	-	8	916	c.671C>T	c.(670-672)aCc>aTc	p.T224I	PDE2A_ENST00000418754.2_Missense_Mutation_p.T109I|PDE2A_ENST00000376450.3_Intron|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Missense_Mutation_p.T215I|PDE2A_ENST00000540345.1_Missense_Mutation_p.T215I|PDE2A_ENST00000544570.1_Missense_Mutation_p.T217I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	224			T -> I (in dbSNP:rs341047).		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.T224I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GTCGCGGTCGGTGTACGCCGC	0.736													G|||	353	0.0704872	0.003	0.0937	5008	,	,		12179	0.0784		0.1044	False		,,,				2504	0.1022				p.T224I		Atlas-SNP	.											PDE2A,colon,carcinoma,0,2	PDE2A	156	2	1	Substitution - Missense(1)	prostate(1)	c.C671T						scavenged	.	G	ILE/THR,ILE/THR,ILE/THR	107,4261		1,105,2078	11	14	13		650,644,671	2.1	0.3	11	dbSNP_79	13	937,7615		47,843,3386	yes	missense,missense,missense	PDE2A	NM_001143839.3,NM_001146209.2,NM_002599.4	89,89,89	48,948,5464	AA,AG,GG		10.9565,2.4496,8.0805	possibly-damaging,possibly-damaging,possibly-damaging	217/935,215/933,224/942	72301503	1044,11876	2184	4276	6460	SO:0001583	missense	5138	exon8			CGGTCGGTGTACG	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.671C>T	11.37:g.72301503G>A	ENSP00000334910:p.Thr224Ile	Somatic	2	2	1		WXS	Illumina HiSeq	Phase_I	3	3	1	NM_002599	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	186	0.08516483516483517	14	0.028455284552845527	34	0.09392265193370165	49	0.08566433566433566	89	0.11741424802110818	G	11.61	1.689892	0.29962	0.024496	0.109565	ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T	0.66280	-0.2;-0.2;-0.19;-0.17;-0.2	4.21	2.11	0.27256	.	2.363610	0.01332	N	0.011285	T	0.00906	0.0030	N	0.19112	0.55	0.51767	P	6.60000000000105E-5	B;B;B;B;B	0.24092	0.01;0.059;0.059;0.097;0.073	B;B;B;B;B	0.15052	0.001;0.005;0.008;0.012;0.007	T	0.07558	-1.0766	9	0.36615	T	0.2	.	9.7098	0.40238	0.0:0.454:0.546:0.0	rs341047;rs56918155	109;224;215;217;224	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.;PDE2A_HUMAN;.;.;.	I	224;215;293;217;109;215	ENSP00000334910:T224I;ENSP00000411657:T215I;ENSP00000442256:T217I;ENSP00000410310:T109I;ENSP00000446399:T215I	ENSP00000334910:T224I	T	-	2	0	PDE2A	71979151	0.006000	0.16342	0.319000	0.25293	0.074000	0.17049	0.019000	0.13444	0.938000	0.37419	0.313000	0.20887	ACC	G|0.921;A|0.079	0.079	strong		0.736	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		A	72301503	G	A	72301503	3	1	1	1	0	0	0	0	1	0	0	0	11636	1261	44	2	2250	2	PDE2A	11	72301503	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2130448	72301503	62705013	170	170										
NOX4	50507	hgsc.bcm.edu	37	chr11	89182653	89182653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acaggtaatatggaatgttcTgcttttatccaacaatctcc	6	9	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:89182653T>C	ENST00000263317.4	-	4	542	c.304A>G	c.(304-306)Aga>Gga	p.R102G	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.R78G|NOX4_ENST00000343727.5_Missense_Mutation_p.R78G|NOX4_ENST00000413594.2_Missense_Mutation_p.R123G|NOX4_ENST00000525196.1_Missense_Mutation_p.R102G|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.R78G|NOX4_ENST00000542487.1_Missense_Mutation_p.R78G|NOX4_ENST00000527956.1_Missense_Mutation_p.R78G|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000535633.1_Missense_Mutation_p.R78G|NOX4_ENST00000528341.1_Missense_Mutation_p.R77G|NOX4_ENST00000534731.1_Missense_Mutation_p.R102G			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	102	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGGAATGTTCTGCTTTTATCC	0.299																																					p.R102G		Atlas-SNP	.											.	NOX4	101	.	0			c.A304G						PASS	.						88	85	86					11																	89182653		2201	4295	6496	SO:0001583	missense	50507	exon4			ATGTTCTGCTTTT	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.304A>G	11.37:g.89182653T>C	ENSP00000263317:p.Arg102Gly	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	120	28	0.233333	NM_001143836	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701251	0.48307	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.42	4.22	0.49857	Flavoprotein transmembrane component (1);	0.105540	0.64402	D	0.000010	D	0.88321	0.6405	L	0.47716	1.5	0.29673	N	0.842284	B;P;B;B;B	0.43287	0.154;0.802;0.049;0.077;0.154	B;P;B;B;B	0.45577	0.102;0.486;0.025;0.259;0.175	D	0.84793	0.0780	9	.	.	.	-8.7869	11.2298	0.48905	0.0:0.0:0.1532:0.8468	.	78;77;102;102;102	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	G	78;78;78;102;102;102;78;78;78;77;123	ENSP00000412446:R78G;ENSP00000440172:R78G;ENSP00000344747:R78G;ENSP00000436892:R102G;ENSP00000436716:R102G;ENSP00000263317:R102G;ENSP00000434924:R78G;ENSP00000433797:R78G;ENSP00000439373:R78G;ENSP00000436970:R77G;ENSP00000405705:R123G	.	R	-	1	2	NOX4	88822301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.714000	0.47202	2.043000	0.60533	0.533000	0.62120	AGA	.	.	none		0.299	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		C	89182653	T	C	89182653	3	2	1	1	0	0	0	0	1	0	0	0	10558	1588	55	3	1492	3	NOX4	11	89182653	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	16881150	89182653	45823863	171	171										
FAT3	120114	hgsc.bcm.edu	37	chr11	92577819	92577819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcttgtcactcgattcccaCgcgctcatgacctacagcac	8	16	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:92577819C>T	ENST00000298047.6	+	18	11303	c.11286C>T	c.(11284-11286)caC>caT	p.H3762H	FAT3_ENST00000525166.1_Silent_p.H3612H|FAT3_ENST00000409404.2_Silent_p.H3762H|FAT3_ENST00000533797.1_Silent_p.H97H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3762					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGATTCCCACGCGCTCATGA	0.527										TCGA Ovarian(4;0.039)																											p.H3762H		Atlas-SNP	.											FAT3_ENST00000409404,colon,carcinoma,0,6	FAT3	1822	6	0			c.C11286T						PASS	.						101	100	101					11																	92577819		2143	4249	6392	SO:0001819	synonymous_variant	120114	exon18			TTCCCACGCGCTC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11286C>T	11.37:g.92577819C>T		Somatic	399	0	0		WXS	Illumina HiSeq	Phase_I	451	80	0.177384	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.	.	none		0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92577819	C	T	92577819	2	4	1	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92577819	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3395166	92577819	42428697	172	172										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825362	95825362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgttgctgttgctgttgctgCtgctgctgctgttgctgctg	14	9	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:95825362C>T	ENST00000524717.1	-	2	3117	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	611					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)	p.Q611Q(2)	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)				gctgttgctgctgctgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q611Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,NS,carcinoma,0,4	MAML2	94	4	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)	c.G1833A						scavenged	.						39	44	42					11																	95825362		2057	4042	6099	SO:0001819	synonymous_variant	84441	exon2			TTGCTGCTGCTGC	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.1833G>A	11.37:g.95825362C>T		Somatic	177	3	0.0169492		WXS	Illumina HiSeq	Phase_I	169	7	0.0414201	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.	.	none		0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825362	C	T	95825362	2	4	1	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAML2	11	95825362	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3247543	95825362	39181154	173	173										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825407	95825407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgctgctgctgctgctgctgCtgctgctgttgctgctgttg	14	11	0	0	rs61901862		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					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)	p.Q596Q(1)	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)				gctgctgctgctgctgctgtt	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q596Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,rectum,carcinoma,0,2	MAML2	94	2	1	Substitution - coding silent(1)	kidney(1)	c.G1788A						PASS	.						28	35	33					11																	95825407		2119	4148	6267	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGCTGC	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.1788G>A	11.37:g.95825407C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	180	23	0.127778	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|0.250;T|0.750	0.750	weak		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825407	C	T	95825407	2	4	1	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAML2	11	95825407	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	45	95825407	39181109	174	174										
POU2AF1	5450	hgsc.bcm.edu	37	chr11	111249896	111249896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aaaccacttacgtttttgccAgagcatggcctgtgacagga	10	10	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:111249896A>G	ENST00000393067.3	-	1	521	c.7T>C	c.(7-9)Tgg>Cgg	p.W3R		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	3					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)		CGTTTTTGCCAGAGCATGGCC	0.557			T	BCL6	NHL																																p.W3R		Atlas-SNP	.		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	.	POU2AF1	23	.	0			c.T7C						PASS	.						211	202	205					11																	111249896		2201	4297	6498	SO:0001583	missense	5450	exon1			TTTGCCAGAGCAT		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.7T>C	11.37:g.111249896A>G	ENSP00000376786:p.Trp3Arg	Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	366	82	0.224044	NM_006235	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211438	0.79240	.	.	ENSG00000110777	ENST00000393067	T	0.31510	1.49	5.3	5.3	0.74995	.	0.572674	0.16592	N	0.207726	T	0.46073	0.1374	L	0.38175	1.15	0.45118	D	0.998132	D	0.76494	0.999	D	0.87578	0.998	T	0.40403	-0.9565	10	0.87932	D	0	.	13.2379	0.59979	1.0:0.0:0.0:0.0	.	3	Q16633	OBF1_HUMAN	R	3	ENSP00000376786:W3R	ENSP00000376786:W3R	W	-	1	0	POU2AF1	110755106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.293000	0.65680	2.225000	0.72522	0.533000	0.62120	TGG	.	.	none		0.557	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		G	111249896	A	G	111249896	3	3	1	1	0	0	0	0	1	0	0	0	12270	188	7	3	783	3	POU2AF1	11	111249896	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	15424489	111249896	23756620	175	175										
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789313	117789327	+	In_Frame_Del	DEL	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgccagagccggagatgcccGggctggagatgcctgggctg					rs577467360|rs201746372|rs200205086|rs61900346|rs371814093|rs58754377|rs201983451|rs368164118|rs201369736	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:117789313_117789327delGGGCTGGAGATGCCT	ENST00000430170.2	-	2	335_349	c.248_262delAGGCATCTCCAGCCC	c.(247-264)caggcatctccagcccgg>cgg	p.QASPA83del	TMPRSS13_ENST00000524993.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000528626.1_In_Frame_Del_p.QASPA83del	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	83	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGAGATGCCCGGGCTGGAGATGCCTGGGCTGGAGA	0.66																																					p.83_88del		Atlas-Indel	.											TMPRSS13_ENST00000445164,NS,NS,0,3	TMPRSS13	75	3	1	Deletion - In frame(1)	urinary_tract(1)	c.249_263del						PASS	.		,,	2974,624		1262,450,87					,,	0	0		dbSNP_126	58	5904,1944		2214,1476,234	no	coding,coding,coding	TMPRSS13	NM_001206790.1,NM_001206789.1,NM_001077263.2	,,	3476,1926,321	A1A1,A1R,RR		24.7706,17.343,22.4358	,,	,,		8878,2568				SO:0001651	inframe_deletion	84000	exon2			.	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.248_262delAGGCATCTCCAGCCC	11.37:g.117789313_117789327delGGGCTGGAGATGCCT	ENSP00000387702:p.Gln83_Ala87del	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	111	25	0.225225	NM_001206789	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	In_Frame_Del	DEL	ENST00000430170.2	37	CCDS58185.1																																																																																			GGGCTGGAGATGCCT|0.257;-|0.743	0.743	strong		0.66	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		-	117789327	GGGCTGGAGATGCCT	-	117789313	7	5	1	1	0	1	0	1	0	0	0	0	16242	1115	39	0	1489	0	TMPRSS13	11	117789313	In_Frame_Del	DEL	GGGCTGGAGATGCCT	TCGA-FA-8693-01A-11D-2397-10	6539417	117789313	17217203	176	176										
AMICA1	120425	hgsc.bcm.edu	37	chr11	118085545	118085545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tagcttctacttacccagtaAcactggcagcaggatgagtt	9	10	1	1	rs553861053	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:118085545A>G	ENST00000356289.5	-	2	210	c.37T>C	c.(37-39)Tta>Cta	p.L13L	AMICA1_ENST00000533261.1_Silent_p.L13L|AMICA1_ENST00000526620.1_Intron|AMICA1_ENST00000292067.7_5'Flank	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	13					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTACCCAGTAACACTGGCAGC	0.383													A|||	12	0.00239617	0.0	0.0	5008	,	,		20342	0.0		0.0	False		,,,				2504	0.0123				p.L13L		Atlas-SNP	.											.	AMICA1	49	.	0			c.T37C						PASS	.						124	119	120					11																	118085545		1843	4089	5932	SO:0001819	synonymous_variant	120425	exon2			CCAGTAACACTGG	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.37T>C	11.37:g.118085545A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	46	7	0.152174	NM_001098526	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	CCDS41723.1																																																																																			.	.	none		0.383	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		G	118085545	A	G	118085545	2	3	1	1	0	0	0	0	0	0	0	1	574	40	2	2		2	AMICA1	11	118085545	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	296232	118085545	16920971	177	177										
OR8D4	338662	hgsc.bcm.edu	37	chr11	123777861	123777861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcaaagcgtttagcacctgTagctcccacctgacagctgt	9	13	0	1	rs61748875	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:123777861T>C	ENST00000321355.2	+	1	753	c.723T>C	c.(721-723)tgT>tgC	p.C241C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C241C(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTAGCACCTGTAGCTCCCACC	0.458													T|||	818	0.163339	0.2005	0.1398	5008	,	,		18173	0.0933		0.1819	False		,,,				2504	0.183				p.C241C		Atlas-SNP	.											OR8D4,NS,carcinoma,0,1	OR8D4	62	1	1	Substitution - coding silent(1)	stomach(1)	c.T723C						scavenged	.	T		857,3547	336.5+/-304.4	88,681,1433	114	114	114		723	3.6	1	11	dbSNP_129	114	1634,6964	303.0+/-306.2	164,1306,2829	no	coding-synonymous	OR8D4	NM_001005197.1		252,1987,4262	CC,CT,TT		19.0044,19.4596,19.1586		241/315	123777861	2491,10511	2202	4299	6501	SO:0001819	synonymous_variant	338662	exon1			CACCTGTAGCTCC	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.723T>C	11.37:g.123777861T>C		Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	253	7	0.027668	NM_001005197	Q6IFE9	Silent	SNP	ENST00000321355.2	37	CCDS31698.1																																																																																			T|0.815;C|0.185	0.185	strong		0.458	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		C	123777861	T	C	123777861	2	2	1	1	0	0	0	0	0	0	0	1	11233	1644	57	2		2	OR8D4	11	123777861	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5692316	123777861	11228655	178	178										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123887164	123887164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccctgagaaacaaggaggtgAagaaagctgtgttgaaactt	12	6	0	4	rs4936881	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:123887164A>C	ENST00000320891.4	+	1	883	c.883A>C	c.(883-885)Aag>Cag	p.K295Q		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	295			K -> Q (in dbSNP:rs4936881).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K295Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAAGGAGGTGAAGAAAGCTGT	0.413													a|||	2142	0.427716	0.469	0.5029	5008	,	,		20676	0.3591		0.4404	False		,,,				2504	0.3763				p.K295Q		Atlas-SNP	.											OR10G4,NS,carcinoma,-2,2	OR10G4	77	2	1	Substitution - Missense(1)	stomach(1)	c.A883C						scavenged	.	A	GLN/LYS	2107,2295	574.0+/-383.7	510,1087,604	78	73	75		883	3.4	0.9	11	dbSNP_111	75	3918,4678	545.6+/-384.8	872,2174,1252	yes	missense	OR10G4	NM_001004462.1	53	1382,3261,1856	CC,CA,AA		45.5793,47.8646,46.3533	benign	295/312	123887164	6025,6973	2201	4298	6499	SO:0001583	missense	390264	exon1			GAGGTGAAGAAAG	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.883A>C	11.37:g.123887164A>C	ENSP00000325076:p.Lys295Gln	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	167	4	0.0239521	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	977	0.44734432234432236	223	0.4532520325203252	192	0.5303867403314917	231	0.40384615384615385	331	0.4366754617414248	a	13.05	2.121331	0.37436	0.478646	0.455793	ENSG00000254737	ENST00000320891	T	0.39406	1.08	3.38	3.38	0.38709	.	0.162599	0.28772	N	0.014191	T	0.00012	0.0000	L	0.42632	1.34	0.41583	P	0.011248000000000036	B	0.30021	0.265	B	0.31337	0.128	T	0.48317	-0.9046	9	0.72032	D	0.01	.	11.9412	0.52903	1.0:0.0:0.0:0.0	rs4936881;rs4936881	295	Q8NGN3	O10G4_HUMAN	Q	295	ENSP00000325076:K295Q	ENSP00000325076:K295Q	K	+	1	0	OR10G4	123392374	0.772000	0.28567	0.943000	0.38184	0.941000	0.58515	3.532000	0.53553	1.547000	0.49401	0.473000	0.43528	AAG	A|0.539;C|0.461	0.461	strong		0.413	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		C	123887164	A	C	123887164	3	2	1	1	0	0	0	0	1	0	0	0	10901	247	9	5	885	5	OR10G4	11	123887164	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	109303	123887164	11119352	179	179										
DDX25	29118	hgsc.bcm.edu	37	chr11	125775114	125775114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgtctctcaatagttttcaaAcctcagccaaccccggaaga	6	13	4	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:125775114A>G	ENST00000263576.6	+	2	226	c.71A>G	c.(70-72)aAc>aGc	p.N24S	PUS3_ENST00000227474.3_5'Flank|RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	24					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TAGTTTTCAAACCTCAGCCAA	0.493																																					p.N24S		Atlas-SNP	.											DDX25_ENST00000263576,caecum,carcinoma,+1,1	DDX25	65	1	0			c.A71G						scavenged	.						138	127	131					11																	125775114		692	1591	2283	SO:0001583	missense	29118	exon2			TTTCAAACCTCAG	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.71A>G	11.37:g.125775114A>G	ENSP00000263576:p.Asn24Ser	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	146	3	0.0205479	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735153	0.30774	.	.	ENSG00000109832	ENST00000263576	T	0.02974	4.09	5.2	5.2	0.72013	.	0.253893	0.34133	N	0.004234	T	0.05227	0.0139	N	0.14661	0.345	0.37370	D	0.911605	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.60969	-0.7157	10	0.24483	T	0.36	-0.7007	11.3873	0.49793	1.0:0.0:0.0:0.0	.	24;24	B4DHI6;Q9UHL0	.;DDX25_HUMAN	S	24	ENSP00000263576:N24S	ENSP00000263576:N24S	N	+	2	0	DDX25	125280324	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.912000	0.56386	2.174000	0.68829	0.533000	0.62120	AAC	.	.	none		0.493	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		G	125775114	A	G	125775114	3	3	1	1	0	0	0	0	1	0	0	0	4352	43	2	2	77	2	DDX25	11	125775114	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1887950	125775114	9231402	180	180										
KIRREL3	84623	hgsc.bcm.edu	37	chr11	126294687	126294687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggagcctctctggaactcccGctcacaaagctcgatggacg	11	14	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:126294687G>A	ENST00000525144.2	-	17	2374	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R697W|KIRREL3_ENST00000416561.2_Missense_Mutation_p.R176W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	709	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGGAACTCCCGCTCACAAAGC	0.627																																					p.R709W		Atlas-SNP	.											KIRREL3_ENST00000525144,NS,carcinoma,0,2	KIRREL3	183	2	0			c.C2125T						PASS	.						64	72	69					11																	126294687		2161	4274	6435	SO:0001583	missense	84623	exon17			ACTCCCGCTCACA	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2125C>T	11.37:g.126294687G>A	ENSP00000435466:p.Arg709Trp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	122	31	0.254098	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353005	0.82132	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.53423	0.62;0.62;0.62	4.88	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.62115	-0.6922	10	0.72032	D	0.01	-11.0324	14.353	0.66716	0.0:0.0:0.8508:0.1492	.	697;709	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	W	709;697;176	ENSP00000435466:R709W;ENSP00000434081:R697W;ENSP00000408692:R176W	ENSP00000408692:R176W	R	-	1	2	KIRREL3	125799897	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	6.135000	0.71696	1.271000	0.44313	0.655000	0.94253	CGG	.	.	none		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126294687	G	A	126294687	3	1	1	1	0	0	0	0	1	0	0	0	8326	1086	38	1	215	1	KIRREL3	11	126294687	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	519573	126294687	8711829	181	181										
KIRREL3	84623	hgsc.bcm.edu	37	chr11	126299148	126299148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cttgtggacaatttccactcGgatatcatttttggctgaca	8	9	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:126299148G>A	ENST00000525144.2	-	15	1981	c.1732C>T	c.(1732-1734)Cga>Tga	p.R578*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.R566*|KIRREL3_ENST00000416561.2_Nonsense_Mutation_p.R45*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	578					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ATTTCCACTCGGATATCATTT	0.458																																					p.R578X		Atlas-SNP	.											.	KIRREL3	183	.	0			c.C1732T						PASS	.						96	99	98					11																	126299148		1942	4138	6080	SO:0001587	stop_gained	84623	exon15			CCACTCGGATATC	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1732C>T	11.37:g.126299148G>A	ENSP00000435466:p.Arg578*	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	108	36	0.333333	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	37	6.421659	0.97555	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	.	.	.	5.66	4.71	0.59529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7594	15.9821	0.80116	0.0:0.0:0.8647:0.1353	.	.	.	.	X	578;566;45	.	ENSP00000408692:R45X	R	-	1	2	KIRREL3	125804358	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.330000	0.65899	2.668000	0.90789	0.561000	0.74099	CGA	.	.	none		0.458	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126299148	G	A	126299148	4	1	1	1	0	0	0	0	0	1	0	0	8326	1124	39	1	616	1	KIRREL3	11	126299148	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	4461	126299148	8707368	182	182										
IGSF9B	22997	hgsc.bcm.edu	37	chr11	133790483	133790483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gggtctccagccccccgaagGggaattctggccggccccag	14	16	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:133790483G>A	ENST00000321016.8	-	18	3367	c.3137C>T	c.(3136-3138)cCc>cTc	p.P1046L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1046L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1046	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCCCCGAAGGGGAATTCTGG	0.662																																					p.P1046L		Atlas-SNP	.											.	IGSF9B	290	.	0			c.C3137T						PASS	.						45	54	51					11																	133790483		1935	4142	6077	SO:0001583	missense	22997	exon18			CCGAAGGGGAATT	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3137C>T	11.37:g.133790483G>A	ENSP00000317980:p.Pro1046Leu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	151	39	0.258278	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	G	17.22	3.335293	0.60853	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69561	-0.09;-0.41	4.82	4.82	0.62117	.	0.159476	0.29737	N	0.011322	T	0.71341	0.3328	N	0.19112	0.55	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.75045	-0.3456	10	0.51188	T	0.08	.	17.5246	0.87796	0.0:0.0:1.0:0.0	.	1046	Q9UPX0	TUTLB_HUMAN	L	1046;888	ENSP00000317980:P1046L;ENSP00000436552:P888L	ENSP00000317980:P1046L	P	-	2	0	IGSF9B	133295693	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.551000	0.82182	2.220000	0.72140	0.455000	0.32223	CCC	.	.	none		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133790483	G	A	133790483	3	1	1	1	0	0	0	0	1	0	0	0	7606	1232	43	2	920	2	IGSF9B	11	133790483	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	7491335	133790483	1216033	183	183										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134076494	134076494	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcacgatttgtgtgcttcacCtgataaactggaccgcctgg	10	11	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr11:134076494C>T	ENST00000534548.2	-	8	1080	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	339					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)		TGTGCTTCACCTGATAAACTG	0.453																																					p.S339N		Atlas-SNP	.											.	NCAPD3	141	.	0			c.G1016A						PASS	.						136	122	127					11																	134076494		2201	4297	6498	SO:0001630	splice_region_variant	23310	exon8			CTTCACCTGATAA	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.1016+1G>A	11.37:g.134076494C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	284	63	0.221831	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240992	0.79912	.	.	ENSG00000151503	ENST00000534548	T	0.08546	3.08	5.67	5.67	0.87782	Armadillo-type fold (1);	0.116016	0.85682	D	0.000000	T	0.18467	0.0443	M	0.66939	2.045	0.80722	D	1	P	0.48764	0.915	P	0.47251	0.542	T	0.00206	-1.1920	9	.	.	.	-11.7273	20.1313	0.98000	0.0:1.0:0.0:0.0	.	339	P42695	CNDD3_HUMAN	N	339	ENSP00000433681:S339N	.	S	-	2	0	NCAPD3	133581704	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.469000	0.66749	2.837000	0.97791	0.655000	0.94253	AGC	.	.	none		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Missense_Mutation	T	134076494	C	T	134076494	5	4	1	1	0	0	0	0	0	0	1	0	10206	695	24	2	3592	2	NCAPD3	11	134076494	Splice_Site	SNP	C	TCGA-FA-8693-01A-11D-2397-10	286011	134076494	930022	184	184										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgacgaaaatcggcaactgaCgctcccagaggaggacaaga	12	10	0	4	rs201777030		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																					p.T1953M		Atlas-SNP	.											Q6YL47_HUMAN,trunk,malignant_melanoma,0,3	CACNA1C	1023	3	3	Substitution - Missense(3)	skin(3)	c.C5858T						scavenged	.						49	49	49					12																	2794937		2012	4159	6171	SO:0001583	missense	775	exon47			AACTGACGCTCCC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met	Somatic	195	9	0.0461538		WXS	Illumina HiSeq	Phase_I	194	11	0.056701	NM_199460	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG	.	.	weak		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2794937	C	T	2794937	3	4	1	1	0	0	0	0	1	0	0	0	2540	536	19	1	6492	1	CACNA1C	12	2794937	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10		2794937	131056958	185	185										
GALNT8	26290	hgsc.bcm.edu	37	chr12	4873163	4873163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctgcttggatcagggacccGttccaggcaacacccccatc	9	16	2	0	rs1468556	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:4873163G>T	ENST00000252318.2	+	9	1880	c.1543G>T	c.(1543-1545)Gtt>Ttt	p.V515F		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	515	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.		V -> F (in dbSNP:rs1468556). {ECO:0000269|PubMed:10767557}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCAGGGACCCGTTCCAGGCAA	0.502													G|||	1651	0.329673	0.2466	0.4251	5008	,	,		19640	0.3611		0.4225	False		,,,				2504	0.2464				p.V515F	Colon(108;631 1558 7270 20097 39846)	Atlas-SNP	.											GALNT8,NS,adenoma,0,1	GALNT8	89	1	0			c.G1543T						scavenged	.	G	PHE/VAL	1305,3101	442.3+/-346.6	207,891,1105	196	174	182		1543	-7.6	0	12	dbSNP_88	182	3609,4991	521.6+/-379.9	761,2087,1452	yes	missense	GALNT8	NM_017417.1	50	968,2978,2557	TT,TG,GG		41.9651,29.6187,37.7826	possibly-damaging	515/638	4873163	4914,8092	2203	4300	6503	SO:0001583	missense	26290	exon9			GGACCCGTTCCAG	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1543G>T	12.37:g.4873163G>T	ENSP00000252318:p.Val515Phe	Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	329	6	0.0182371	NM_017417	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	814	0.3727106227106227	124	0.25203252032520324	150	0.4143646408839779	223	0.38986013986013984	317	0.4182058047493404	G	8.342	0.828853	0.16749	0.296187	0.419651	ENSG00000130035	ENST00000252318	T	0.26957	1.7	4.43	-7.55	0.01327	Ricin B-related lectin (1);Ricin B lectin (3);	1.667950	0.02954	N	0.142084	T	0.00012	0.0000	L	0.31926	0.97	0.80722	P	0.0	B	0.31383	0.321	B	0.29716	0.106	T	0.18935	-1.0321	9	0.56958	D	0.05	.	8.9706	0.35903	0.596:0.0:0.3027:0.1014	rs1468556;rs17783619;rs59456221;rs1468556	515	Q9NY28	GALT8_HUMAN	F	515	ENSP00000252318:V515F	ENSP00000252318:V515F	V	+	1	0	GALNT8	4743424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.158000	0.10070	-1.811000	0.01229	-0.751000	0.03497	GTT	G|0.627;T|0.373	0.373	strong		0.502	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		T	4873163	G	T	4873163	3	4	1	1	0	0	0	0	1	0	0	0	6219	1145	40	4	1577	4	GALNT8	12	4873163	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2078226	4873163	128978732	186	186										
NECAP1	25977	hgsc.bcm.edu	37	chr12	8245311	8245311	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gagatttccaaggaatctcaAgaaatggatgctcgtcctaa	9	8	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:8245311A>G	ENST00000339754.5	+	5	501	c.423A>G	c.(421-423)caA>caG	p.Q141Q		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	141					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		AGGAATCTCAAGAAATGGATG	0.408																																					p.Q141Q		Atlas-SNP	.											.	NECAP1	21	.	0			c.A423G						PASS	.						70	71	71					12																	8245311		2203	4300	6503	SO:0001819	synonymous_variant	25977	exon5			ATCTCAAGAAATG	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.423A>G	12.37:g.8245311A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	138	40	0.289855	NM_015509	Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	CCDS8589.1																																																																																			.	.	none		0.408	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		G	8245311	A	G	8245311	2	3	1	1	0	0	0	0	0	0	0	1	10307	69	3	3		3	NECAP1	12	8245311	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	3372148	8245311	125606584	187	187										
MANSC1	54682	hgsc.bcm.edu	37	chr12	12483713	12483713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	catcttaaatagtttctccaAgtgatctgaggatccaaact	6	9	3	2	rs4763282	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:12483713A>G	ENST00000535902.1	-	4	1107	c.544T>C	c.(544-546)Ttg>Ctg	p.L182L	MANSC1_ENST00000396349.3_Silent_p.L148L|MANSC1_ENST00000545735.1_Silent_p.L101L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	182						integral component of membrane (GO:0016021)		p.L182L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGTTTCTCCAAGTGATCTGAG	0.428													A|||	2914	0.581869	0.4894	0.6614	5008	,	,		21284	0.375		0.7306	False		,,,				2504	0.7106				p.L182L		Atlas-SNP	.											MANSC1,NS,carcinoma,0,1	MANSC1	38	1	1	Substitution - coding silent(1)	stomach(1)	c.T544C						scavenged	.	A		2313,2093	603.1+/-390.1	595,1123,485	74	75	75		544	2.4	0.6	12	dbSNP_111	75	6493,2107	716.5+/-406.1	2467,1559,274	no	coding-synonymous	MANSC1	NM_018050.2		3062,2682,759	GG,GA,AA		24.5,47.5034,32.2928		182/432	12483713	8806,4200	2203	4300	6503	SO:0001819	synonymous_variant	54682	exon4			TCTCCAAGTGATC	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.544T>C	12.37:g.12483713A>G		Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	165	3	0.0181818	NM_018050	Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	CCDS8648.1																																																																																			A|0.380;G|0.620	0.620	strong		0.428	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		G	12483713	A	G	12483713	2	3	1	1	0	0	0	0	0	0	0	1	9224	69	3	3		3	MANSC1	12	12483713	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	4238402	12483713	121368182	188	188										
C12orf11	55726	hgsc.bcm.edu	37	chr12	27070328	27070328	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caggaggaaggtctactattTacatctacaggtgaaatccg	10	8	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:27070328T>G	ENST00000261191.7	-	10	1562	c.1026A>C	c.(1024-1026)gtA>gtC	p.V342V	ASUN_ENST00000539625.1_Silent_p.V241V	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	342					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTCTACTATTTACATCTACAG	0.269																																					p.V342V		Atlas-SNP	.											.	.	.	.	0			c.A1026C						PASS	.						47	50	49					12																	27070328		2199	4289	6488	SO:0001819	synonymous_variant	55726	exon10			ACTATTTACATCT	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1026A>C	12.37:g.27070328T>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	168	40	0.238095	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.949|9.949	1.219491|1.219491	0.22373|0.22373	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000542392|ENST00000536232	.|.	.|.	.|.	5.39|5.39	2.92|2.92	0.33932|0.33932	.|.	.|.	.|.	.|.	.|.	T|.	0.56645|.	0.1999|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51608|.	-0.8684|.	4|.	.|.	.|.	.|.	-15.2582|-15.2582	8.0783|8.0783	0.30729|0.30729	0.0:0.0698:0.2529:0.6773|0.0:0.0698:0.2529:0.6773	.|.	.|.	.|.	.|.	Q|S	56|70	.|.	.|.	K|X	-|-	1|2	0|2	C12orf11|C12orf11	26961595|26961595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.034000|1.034000	0.30204|0.30204	0.948000|0.948000	0.37687|0.37687	0.477000|0.477000	0.44152|0.44152	AAA|TAA	.	.	none		0.269	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		G	27070328	T	G	27070328	2	3	1	1	0	0	0	0	0	0	0	1	1675	1741	61	5		5	C12orf11	12	27070328	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	14586615	27070328	106781567	189	189										
RPAP3	79657	hgsc.bcm.edu	37	chr12	48090083	48090083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcagtctaaaatatgctgacGctctgttcgttggcaacacg	9	10	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:48090083G>T	ENST00000005386.3	-	5	636	c.521C>A	c.(520-522)gCg>gAg	p.A174E	RPAP3_ENST00000432584.3_Missense_Mutation_p.A15E|RPAP3_ENST00000380650.4_Missense_Mutation_p.A174E	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	174										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATATGCTGACGCTCTGTTCGT	0.358																																					p.A174E		Atlas-SNP	.											RPAP3,caecum,carcinoma,-1,1	RPAP3	45	1	0			c.C521A						scavenged	.						161	142	148					12																	48090083		2203	4300	6503	SO:0001583	missense	79657	exon5			GCTGACGCTCTGT	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.521C>A	12.37:g.48090083G>T	ENSP00000005386:p.Ala174Glu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	171	5	0.0292398	NM_024604	B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231151	0.58777	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.13;-0.8	6.02	4.22	0.49857	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.047393	0.85682	D	0.000000	D	0.91222	0.7234	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.92935	0.6367	10	0.87932	D	0	.	12.086	0.53698	0.1375:0.0:0.8625:0.0	.	174;174	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	E	174;15;174	ENSP00000005386:A174E;ENSP00000401823:A15E;ENSP00000370024:A174E	ENSP00000005386:A174E	A	-	2	0	RPAP3	46376350	1.000000	0.71417	0.750000	0.31169	0.083000	0.17756	9.420000	0.97426	0.894000	0.36317	-0.143000	0.13931	GCG	.	.	none		0.358	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		T	48090083	G	T	48090083	3	4	1	1	0	0	0	0	1	0	0	0	13543	1087	38	4	1528	4	RPAP3	12	48090083	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	21019755	48090083	85761812	190	190										
MAP3K12	7786	hgsc.bcm.edu	37	chr12	53880795	53880795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atggtccagacagggcgcagGcagccaaagaggccctcaag	14	12	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:53880795G>A	ENST00000267079.2	-	3	507	c.282C>T	c.(280-282)tgC>tgT	p.C94C	MAP3K12_ENST00000547035.1_Silent_p.C127C|MAP3K12_ENST00000547488.1_Silent_p.C127C|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	94					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGGGCGCAGGCAGCCAAAGA	0.602																																					p.C127C		Atlas-SNP	.											.	MAP3K12	160	.	0			c.C381T						PASS	.						80	66	71					12																	53880795		2203	4300	6503	SO:0001819	synonymous_variant	7786	exon2			GCGCAGGCAGCCA	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.282C>T	12.37:g.53880795G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	147	39	0.265306	NM_001193511	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	7.742	0.701512	0.15172	.	.	ENSG00000139625	ENST00000547151	.	.	.	4.73	1.91	0.25777	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61681	-0.7013	5	0.87932	D	0	.	7.939	0.29946	0.3359:0.0:0.6641:0.0	.	.	.	.	V	91	.	ENSP00000446800:A91V	A	-	2	0	MAP3K12	52167062	0.968000	0.33430	1.000000	0.80357	0.987000	0.75469	0.040000	0.13905	0.183000	0.20059	-0.448000	0.05591	GCC	.	.	none		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		A	53880795	G	A	53880795	2	1	1	1	0	0	0	0	0	0	0	1	9246	1195	42	2		2	MAP3K12	12	53880795	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	5790712	53880795	79971100	191	191										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	63954304	63954304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tatccttctcagttaaccttTaatactctgtacacactatt	2	11	2	0	rs1054891	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:63954304T>C	ENST00000324472.4	-	22	2448	c.2265A>G	c.(2263-2265)ttA>ttG	p.L755L	DPY19L2_ENST00000413230.2_Silent_p.L202L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	755					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGTTAACCTTTAATACTCTGT	0.418													N|||	2174	0.434105	0.7057	0.4568	5008	,	,		16369	0.2857		0.4245	False		,,,				2504	0.2137				p.L755L		Atlas-SNP	.											DPY19L2,colon,carcinoma,0,1	DPY19L2	97	1	0			c.A2265G						scavenged	.	C		2776,1630	500.0+/-364.6	884,1008,311	85	80	82		2265	-1.3	0.3	12	dbSNP_86	82	3491,5109	633.6+/-398.7	694,2103,1503	no	coding-synonymous	DPY19L2	NM_173812.4		1578,3111,1814	CC,CT,TT		40.593,36.995,48.1855		755/759	63954304	6267,6739	2203	4300	6503	SO:0001819	synonymous_variant	283417	exon22			AACCTTTAATACT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2265A>G	12.37:g.63954304T>C		Somatic	216	2	0.00925926		WXS	Illumina HiSeq	Phase_I	222	3	0.0135135	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	CCDS31851.1																																																																																			T|0.532;C|0.468	0.468	strong		0.418	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	63954304	T	C	63954304	2	2	1	1	0	0	0	0	0	0	0	1	4741	1751	61	2		2	DPY19L2	12	63954304	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	10073509	63954304	69897591	192	192										
DYRK2	8445	hgsc.bcm.edu	37	chr12	68051819	68051819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccagttgttacgagcatcagCgtgtctacacgtacatccag	9	12	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:68051819C>T	ENST00000344096.3	+	3	1545	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.R305C	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CGAGCATCAGCGTGTCTACAC	0.483																																					p.R378C		Atlas-SNP	.											DYRK2,colon,carcinoma,-1,2	DYRK2	63	2	0			c.C1132T						scavenged	.						110	105	107					12																	68051819		2203	4300	6503	SO:0001583	missense	8445	exon3			CATCAGCGTGTCT	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1132C>T	12.37:g.68051819C>T	ENSP00000342105:p.Arg378Cys	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	285	3	0.0105263	NM_006482	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169037	0.57584	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.20738	2.05;2.05	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.06197	-1.0840	9	.	.	.	.	19.6624	0.95878	0.0:1.0:0.0:0.0	.	378	Q92630	DYRK2_HUMAN	C	378;305	ENSP00000342105:R378C;ENSP00000377186:R305C	.	R	+	1	0	DYRK2	66338086	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	4.997000	0.63921	2.736000	0.93811	0.305000	0.20034	CGT	.	.	none		0.483	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68051819	C	T	68051819	3	4	1	1	0	0	0	0	1	0	0	0	4856	768	27	1	1142	1	DYRK2	12	68051819	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	4097515	68051819	65800076	193	193										
ZFC3H1	196441	hgsc.bcm.edu	37	chr12	72022729	72022729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggtcctgtagactgttcctcAtcactactgaagctattatc	7	11	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:72022729A>G	ENST00000378743.3	-	20	4273	c.3915T>C	c.(3913-3915)gaT>gaC	p.D1305D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1305					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTGTTCCTCATCACTACTGA	0.323																																					p.D1305D		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.T3915C						PASS	.						147	134	138					12																	72022729		1824	4077	5901	SO:0001819	synonymous_variant	196441	exon20			TTCCTCATCACTA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3915T>C	12.37:g.72022729A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	CCDS41813.1																																																																																			.	.	none		0.323	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		G	72022729	A	G	72022729	2	3	1	1	0	0	0	0	0	0	0	1	17630	214	8	2		2	ZFC3H1	12	72022729	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	3970910	72022729	61829166	194	194										
TSPAN19	144448	hgsc.bcm.edu	37	chr12	85421763	85421763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaagatcccattccaatcaAaatttgagaaataggtacta	6	7	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:85421763A>C	ENST00000532498.2	-	4	258	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	60						integral component of membrane (GO:0016021)				ovary(1)	1						ATTCCAATCAAAATTTGAGAA	0.294																																					p.L60V		Atlas-SNP	.											TSPAN19_ENST00000532498,NS,carcinoma,+2,2	TSPAN19	23	2	0			c.T178G						PASS	.						58	54	55					12																	85421763		1806	4063	5869	SO:0001583	missense	144448	exon4			CAATCAAAATTTG		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.178T>G	12.37:g.85421763A>C	ENSP00000433816:p.Leu60Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	119	22	0.184874	NM_001100917		Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241688	0.22711	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.80738	-1.41;-1.41	4.4	0.887	0.19200	.	.	.	.	.	T	0.70885	0.3275	L	0.29908	0.895	0.09310	N	1	P	0.45348	0.856	P	0.45753	0.492	T	0.60342	-0.7282	9	0.51188	T	0.08	.	5.6138	0.17420	0.5677:0.0:0.4323:0.0	.	60	P0C672	TSN19_HUMAN	V	60	ENSP00000433816:L60V;ENSP00000446898:L60V	ENSP00000433816:L60V	L	-	1	2	TSPAN19	83945894	0.109000	0.22037	0.001000	0.08648	0.131000	0.20780	0.497000	0.22514	0.302000	0.22762	0.533000	0.62120	TTG	.	.	none		0.294	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		C	85421763	A	C	85421763	3	2	1	1	0	0	0	0	1	0	0	0	16640	11	1	5	592	5	TSPAN19	12	85421763	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	13399034	85421763	48430132	195	195										
ALX1	8092	hgsc.bcm.edu	37	chr12	85674196	85674196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caggcaaatgcgtgcaggccTtcggacccctgccccgcgcc	12	18	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:85674196T>G	ENST00000316824.3	+	1	312	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	53					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGTGCAGGCCTTCGGACCCCT	0.637																																					p.F53V		Atlas-SNP	.											ALX1,lower_third,carcinoma,-2,1	ALX1	61	1	0			c.T157G						scavenged	.						43	44	44					12																	85674196		2203	4300	6503	SO:0001583	missense	8092	exon1			CAGGCCTTCGGAC	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.157T>G	12.37:g.85674196T>G	ENSP00000315417:p.Phe53Val	Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	66	12	0.181818	NM_006982	Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481878	0.63849	.	.	ENSG00000180318	ENST00000316824	D	0.91843	-2.92	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.90594	0.4539	10	0.27082	T	0.32	.	14.7384	0.69434	0.0:0.0:0.0:1.0	.	53	Q15699	ALX1_HUMAN	V	53	ENSP00000315417:F53V	ENSP00000315417:F53V	F	+	1	0	ALX1	84198327	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.290000	0.65661	2.069000	0.61940	0.528000	0.53228	TTC	.	.	none		0.637	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		G	85674196	T	G	85674196	3	3	1	1	0	0	0	0	1	0	0	0	556	1609	56	5	159	5	ALX1	12	85674196	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	252433	85674196	48177699	196	196										
USP44	84101	hgsc.bcm.edu	37	chr12	95926864	95926864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	actttccagaccacatgactTggaacaaagtatgcaattca	6	10	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:95926864T>C	ENST00000258499.3	-	2	1457	c.1169A>G	c.(1168-1170)cAa>cGa	p.Q390R	USP44_ENST00000393091.2_Missense_Mutation_p.Q390R|USP44_ENST00000537435.2_Missense_Mutation_p.Q390R|USP44_ENST00000552440.1_Missense_Mutation_p.Q390R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	390	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CCACATGACTTGGAACAAAGT	0.453																																					p.Q390R		Atlas-SNP	.											.	USP44	83	.	0			c.A1169G						PASS	.						140	127	131					12																	95926864		2203	4300	6503	SO:0001583	missense	84101	exon2			ATGACTTGGAACA	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1169A>G	12.37:g.95926864T>C	ENSP00000258499:p.Gln390Arg	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	250	62	0.248	NM_032147	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	T	1.962	-0.438603	0.04636	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.1	5.1	0.69264	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.100708	0.64402	D	0.000001	T	0.14270	0.0345	N	0.04090	-0.28	0.53688	D	0.999972	B	0.11235	0.004	B	0.18871	0.023	T	0.08973	-1.0696	10	0.05833	T	0.94	.	15.189	0.73028	0.0:0.0:0.0:1.0	.	390	Q9H0E7	UBP44_HUMAN	R	390	ENSP00000258499:Q390R;ENSP00000376806:Q390R;ENSP00000448670:Q390R;ENSP00000442629:Q390R	ENSP00000258499:Q390R	Q	-	2	0	USP44	94450995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.495000	0.53280	2.049000	0.60858	0.454000	0.30748	CAA	.	.	none		0.453	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		C	95926864	T	C	95926864	3	2	1	1	0	0	0	0	1	0	0	0	17072	1812	63	2	989	2	USP44	12	95926864	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	10252668	95926864	37925031	197	197										
LTA4H	4048	hgsc.bcm.edu	37	chr12	96409429	96409429	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cttttcaccaaacaatcgtcCgcaaatgtggcgttccaagt	7	12	1	0	rs138184255	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:96409429C>A	ENST00000228740.2	-	11	1132	c.991G>T	c.(991-993)Gga>Tga	p.G331*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.G307*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.G307*|LTA4H_ENST00000548375.1_5'Flank	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	331					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AACAATCGTCCGCAAATGTGG	0.373											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G331X		Atlas-SNP	.											.	LTA4H	38	.	0			c.G991T						PASS	.						130	126	127					12																	96409429		2203	4300	6503	SO:0001587	stop_gained	4048	exon11			ATCGTCCGCAAAT	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.991G>T	12.37:g.96409429C>A	ENSP00000228740:p.Gly331*	Somatic	61	0	0	1320	WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_000895	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Nonsense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	39	7.747344	0.98468	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	6.17	6.17	0.99709	.	0.044184	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-23.289	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	331;307;307	.	ENSP00000228740:G331X	G	-	1	0	LTA4H	94933560	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.426000	0.59882	2.941000	0.99782	0.655000	0.94253	GGA	C|0.999;T|0.001	.	alt		0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		A	96409429	C	A	96409429	4	1	1	1	0	0	0	0	0	1	0	0	9069	661	23	4	880	4	LTA4H	12	96409429	Nonsense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	482565	96409429	37442466	198	198										
RFC5	5985	hgsc.bcm.edu	37	chr12	118458748	118458748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccgaggaatagacatcattcGaggaccgatcctgagctttg	11	10	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:118458748G>A	ENST00000454402.2	+	4	423	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	RFC5_ENST00000392542.2_Missense_Mutation_p.R81Q|RFC5_ENST00000229043.3_Missense_Mutation_p.R17Q	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	102					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACATCATTCGAGGACCGATC	0.388																																					p.R102Q		Atlas-SNP	.											.	RFC5	35	.	0			c.G305A						PASS	.						149	135	140					12																	118458748		2203	4300	6503	SO:0001583	missense	5985	exon4			TCATTCGAGGACC		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.305G>A	12.37:g.118458748G>A	ENSP00000408295:p.Arg102Gln	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	83	19	0.228916	NM_007370	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488169	0.84854	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000484086;ENST00000420967;ENST00000454402;ENST00000392542	T;T;T;T;T	0.51817	0.96;0.69;0.69;0.69;1.39	5.38	4.49	0.54785	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.978;0.985;0.985	T	0.74751	-0.3559	10	0.87932	D	0	0.7778	13.1853	0.59677	0.0783:0.0:0.9217:0.0	.	81;116;102	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	Q	17;17;17;134;81;102;81	ENSP00000229043:R17Q;ENSP00000445917:R134Q;ENSP00000390340:R81Q;ENSP00000408295:R102Q;ENSP00000376325:R81Q	ENSP00000229043:R17Q	R	+	2	0	RFC5	116943131	1.000000	0.71417	0.998000	0.56505	0.461000	0.32589	9.691000	0.98679	1.270000	0.44297	-0.150000	0.13652	CGA	.	.	none		0.388	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		A	118458748	G	A	118458748	3	1	1	1	0	0	0	0	1	0	0	0	13248	1058	37	1	325	1	RFC5	12	118458748	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	22049319	118458748	15393147	199	199										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121615103	121615103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtctgcattctccccaggccGctgtgttcatcgacttcctc	8	16	3	0	rs1718119	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:121615103G>A	ENST00000546057.1	+	11	1185	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	P2RX7_ENST00000328963.5_Missense_Mutation_p.A178T|P2RX7_ENST00000541446.1_Missense_Mutation_p.A59T|P2RX7_ENST00000535250.1_Missense_Mutation_p.A258T|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	348			A -> T (in dbSNP:rs1718119). {ECO:0000269|PubMed:9826911}.		apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCCCAGGCCGCTGTGTTCAT	0.498													A|||	1615	0.322484	0.4599	0.2003	5008	,	,		20159	0.1419		0.3827	False		,,,				2504	0.3476				p.A348T		Atlas-SNP	.											P2RX7,NS,carcinoma,0,1	P2RX7	53	1	0			c.G1042A						scavenged	.	A	THR/ALA	2007,2399	614.4+/-392.4	454,1099,650	138	121	127		1042	5.6	1	12	dbSNP_89	127	3418,5182	639.4+/-399.5	723,1972,1605	yes	missense	P2RX7	NM_002562.5	58	1177,3071,2255	AA,AG,GG		39.7442,45.5515,41.7115	benign	348/596	121615103	5425,7581	2203	4300	6503	SO:0001583	missense	5027	exon11			CAGGCCGCTGTGT	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1042G>A	12.37:g.121615103G>A	ENSP00000442349:p.Ala348Thr	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	194	2	0.0103093	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	673	0.30815018315018317	231	0.4695121951219512	76	0.20994475138121546	73	0.12762237762237763	293	0.3865435356200528	A	6.616	0.482145	0.12581	0.455515	0.397442	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	5.62	5.62	0.85841	.	0.382952	0.23821	N	0.044240	T	0.00012	0.0000	N	0.00112	-2.095	0.52501	P	4.199999999998649E-5	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38887	-0.9640	9	0.02654	T	1	.	7.4513	0.27240	0.8325:0.0:0.1675:0.0	rs1718119;rs2230910;rs17525154;rs52812840;rs58430687;rs1718119	178;59;258;348	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	T	348;178;258;59	ENSP00000442349:A348T;ENSP00000330696:A178T;ENSP00000442572:A258T;ENSP00000437471:A59T	ENSP00000330696:A178T	A	+	1	0	P2RX7	120099486	0.976000	0.34144	0.978000	0.43139	0.854000	0.48673	0.672000	0.25187	0.980000	0.38523	-0.332000	0.08345	GCT	G|0.628;N|0.001	.	strong		0.498	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		A	121615103	G	A	121615103	3	1	1	1	0	0	0	0	1	0	0	0	11345	1087	38	1	1084	1	P2RX7	12	121615103	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3156355	121615103	12236792	200	200										
PIWIL1	9271	hgsc.bcm.edu	37	chr12	130855827	130855827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgaagccagaccacatacagCgcttgacctacaagctgtgc	9	13	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr12:130855827C>T	ENST00000245255.3	+	20	2700	c.2428C>T	c.(2428-2430)Cgc>Tgc	p.R810C	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	810	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)		CCACATACAGCGCTTGACCTA	0.428																																					p.R810C		Atlas-SNP	.											.	PIWIL1	157	.	0			c.C2428T						PASS	.						192	164	174					12																	130855827		2203	4300	6503	SO:0001583	missense	9271	exon20			ATACAGCGCTTGA	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.2428C>T	12.37:g.130855827C>T	ENSP00000245255:p.Arg810Cys	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	202	39	0.193069	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499927	0.64298	.	.	ENSG00000125207	ENST00000245255	T	0.32515	1.45	5.45	3.49	0.39957	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.053233	0.85682	D	0.000000	T	0.52108	0.1714	M	0.81112	2.525	0.80722	D	1	P;D	0.89917	0.602;1.0	B;D	0.87578	0.178;0.998	T	0.52946	-0.8507	10	0.59425	D	0.04	-29.512	7.1092	0.25380	0.3786:0.5358:0.0:0.0856	.	810;810	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	810	ENSP00000245255:R810C	ENSP00000245255:R810C	R	+	1	0	PIWIL1	129421780	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.059000	0.41384	1.154000	0.42482	0.561000	0.74099	CGC	.	.	none		0.428	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			T	130855827	C	T	130855827	3	4	1	1	0	0	0	0	1	0	0	0	11957	768	27	1	2502	1	PIWIL1	12	130855827	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	9240724	130855827	2996068	201	201										
SACS	26278	hgsc.bcm.edu	37	chr13	23907902	23907902	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttttctgctctaaatgttgaAgtttggaccatataatgtag	8	5	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr13:23907902A>C	ENST00000382292.3	-	9	10386	c.10113T>G	c.(10111-10113)acT>acG	p.T3371T	SACS_ENST00000402364.1_Silent_p.T2621T|SACS_ENST00000382298.3_Silent_p.T3371T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3371					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAATGTTGAAGTTTGGACCA	0.353																																					p.T3371T		Atlas-SNP	.											SACS_ENST00000382298,NS,carcinoma,0,2	SACS	871	2	0			c.T10113G						PASS	.						75	73	74					13																	23907902		2203	4299	6502	SO:0001819	synonymous_variant	26278	exon10			TGTTGAAGTTTGG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10113T>G	13.37:g.23907902A>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	96	20	0.208333	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			.	.	none		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23907902	A	C	23907902	2	2	1	1	0	0	0	0	0	0	0	1	13804	59	3	5		5	SACS	13	23907902	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10		23907902	91261976	202	202										
WASF3	10810	hgsc.bcm.edu	37	chr13	27239258	27239258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tcaagacagaattgatcgccTtgctgtcaaagtcacccagc	8	12	3	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr13:27239258T>C	ENST00000335327.5	+	4	405	c.227T>C	c.(226-228)cTt>cCt	p.L76P	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.L76P	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	76					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATTGATCGCCTTGCTGTCAAA	0.413																																					p.L76P		Atlas-SNP	.											.	WASF3	68	.	0			c.T227C						PASS	.						92	85	88					13																	27239258		2203	4300	6503	SO:0001583	missense	10810	exon4			ATCGCCTTGCTGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.227T>C	13.37:g.27239258T>C	ENSP00000335055:p.Leu76Pro	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	110	34	0.309091	NM_006646	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230247	0.79688	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.69040	-0.37;-0.37	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88329	0.2967	10	0.87932	D	0	-27.7935	15.8529	0.78947	0.0:0.0:0.0:1.0	.	76;76	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	P	76	ENSP00000354325:L76P;ENSP00000335055:L76P	ENSP00000335055:L76P	L	+	2	0	WASF3	26137258	1.000000	0.71417	0.922000	0.36590	0.865000	0.49528	7.562000	0.82300	2.147000	0.66899	0.528000	0.53228	CTT	.	.	none		0.413	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			C	27239258	T	C	27239258	3	2	1	1	0	0	0	0	1	0	0	0	17251	1609	56	3	233	3	WASF3	13	27239258	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	3331356	27239258	87930620	203	203										
FREM2	341640	hgsc.bcm.edu	37	chr13	39262561	39262561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgttgatcttcaaccttacTtctccattccagcctggcca	5	15	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr13:39262561T>C	ENST00000280481.7	+	1	1296	c.1080T>C	c.(1078-1080)acT>acC	p.T360T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	360					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAACCTTACTTCTCCATTCC	0.572																																					p.T360T		Atlas-SNP	.											.	FREM2	385	.	0			c.T1080C						PASS	.						124	113	117					13																	39262561		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			CCTTACTTCTCCA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1080T>C	13.37:g.39262561T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	132	28	0.212121	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.	.	none		0.572	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39262561	T	C	39262561	2	2	1	1	0	0	0	0	0	0	0	1	6045	1596	56	3		3	FREM2	13	39262561	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	12023303	39262561	75907317	204	204										
KBTBD6	89890	hgsc.bcm.edu	37	chr13	41705897	41705897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	actgggaccccgctctttggGagcagcctccagccactgca	11	16	1	0	rs150633583	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr13:41705897G>C	ENST00000379485.1	-	1	985	c.751C>G	c.(751-753)Ccc>Gcc	p.P251A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	251								p.P251A(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCTCTTTGGGAGCAGCCTCC	0.587													G|||	4	0.000798722	0.003	0.0	5008	,	,		19033	0.0		0.0	False		,,,				2504	0.0				p.P251A		Atlas-SNP	.											KBTBD6,trunk,malignant_melanoma,0,2	KBTBD6	83	2	1	Substitution - Missense(1)	skin(1)	c.C751G						scavenged	.	G	ALA/PRO	14,4392	19.1+/-41.9	0,14,2189	64	65	65		751	3.7	1	13	dbSNP_134	65	0,8600		0,0,4300	yes	missense	KBTBD6	NM_152903.4	27	0,14,6489	CC,CG,GG		0.0,0.3177,0.1076	benign	251/675	41705897	14,12992	2203	4300	6503	SO:0001583	missense	89890	exon1			CTTTGGGAGCAGC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.751C>G	13.37:g.41705897G>C	ENSP00000368799:p.Pro251Ala	Somatic	320	1	0.003125		WXS	Illumina HiSeq	Phase_I	395	4	0.0101266	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	3.422	-0.117976	0.06838	0.003177	0.0	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.67523	-0.27;-0.27	3.68	3.68	0.42216	BTB/Kelch-associated (2);	0.074945	0.53938	D	0.000048	T	0.51193	0.1660	L	0.31926	0.97	0.38217	D	0.940638	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.006	T	0.48328	-0.9045	10	0.08837	T	0.75	.	13.263	0.60117	0.0:0.0:1.0:0.0	.	185;251	F5GZN7;Q86V97	.;KBTB6_HUMAN	A	251;185	ENSP00000368799:P251A;ENSP00000444326:P185A	ENSP00000368799:P251A	P	-	1	0	KBTBD6	40603897	0.817000	0.29147	0.996000	0.52242	0.966000	0.64601	1.519000	0.35888	2.060000	0.61445	0.455000	0.32223	CCC	G|0.998;C|0.002	0.002	strong		0.587	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41705897	G	C	41705897	3	2	1	1	0	0	0	0	1	0	0	0	7997	1174	41	4	1277	4	KBTBD6	13	41705897	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2443336	41705897	73463981	205	205										
PCDH17	27253	hgsc.bcm.edu	37	chr13	58208119	58208119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	caaagggctctacgtgcttcAggtgcacgagaacaacatcc	10	12	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr13:58208119A>G	ENST00000377918.3	+	1	1465	c.1439A>G	c.(1438-1440)cAg>cGg	p.Q480R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TACGTGCTTCAGGTGCACGAG	0.602																																					p.Q480R	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.A1439G						PASS	.						48	44	46					13																	58208119		2203	4300	6503	SO:0001583	missense	27253	exon1			TGCTTCAGGTGCA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1439A>G	13.37:g.58208119A>G	ENSP00000367151:p.Gln480Arg	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	12	0.12766	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850826	0.71719	.	.	ENSG00000118946	ENST00000377918	T	0.51071	0.72	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	L	0.31065	0.9	0.58432	D	0.999996	D;D	0.61697	0.988;0.99	P;D	0.64877	0.775;0.93	T	0.52155	-0.8613	9	.	.	.	.	15.9249	0.79609	1.0:0.0:0.0:0.0	.	480;480	O14917-2;O14917	.;PCD17_HUMAN	R	480	ENSP00000367151:Q480R	.	Q	+	2	0	PCDH17	57106120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.576000	0.82467	2.170000	0.68504	0.459000	0.35465	CAG	.	.	none		0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		G	58208119	A	G	58208119	3	3	1	1	0	0	0	0	1	0	0	0	11512	188	7	3	1441	3	PCDH17	13	58208119	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	16502222	58208119	56961759	206	206										
POTEG	404785	hgsc.bcm.edu	37	chr14	19553680	19553680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acttctggagaccacgacgaCtctgctatgaagacactcag	9	12	3	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:19553680C>T	ENST00000409832.3	+	1	316	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	88										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACCACGACGACTCTGCTATGA	0.617																																					p.D88D		Atlas-SNP	.											POTEG,bladder,carcinoma,0,1	POTEG	118	1	0			c.C264T						scavenged	.						67	87	80					14																	19553680		1966	4009	5975	SO:0001819	synonymous_variant	404785	exon1			CGACGACTCTGCT		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.264C>T	14.37:g.19553680C>T		Somatic	777	15	0.019305		WXS	Illumina HiSeq	Phase_I	754	16	0.0212202	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																			.	.	weak		0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		T	19553680	C	T	19553680	2	4	1	1	0	0	0	0	0	0	0	1	12266	564	20	2		2	POTEG	14	19553680	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10		19553680	87795860	207	207										
OR10G2	26534	hgsc.bcm.edu	37	chr14	22102293	22102293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcccggcgcctcccatcagCggtgcgtatcttcaggatgg	14	14	3	0	rs41307110	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:22102293C>T	ENST00000542433.1	-	1	803	c.706G>A	c.(706-708)Gct>Act	p.A236T		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTCCCATCAGCGGTGCGTATC	0.542																																					p.A236T		Atlas-SNP	.											OR10G2,NS,carcinoma,0,1	OR10G2	35	1	0			c.G706A						scavenged	.						39	41	40					14																	22102293		2179	4246	6425	SO:0001583	missense	26534	exon1			CATCAGCGGTGCG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.706G>A	14.37:g.22102293C>T	ENSP00000445383:p.Ala236Thr	Somatic	223	8	0.0358744		WXS	Illumina HiSeq	Phase_I	290	8	0.0275862	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	347	0.15888278388278387	55	0.11178861788617886	40	0.11049723756906077	137	0.2395104895104895	115	0.1517150395778364	c	2.861	-0.236170	0.05944	.	.	ENSG00000255582	ENST00000542433	T	0.00174	8.62	3.92	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.146443	0.31134	N	0.008190	T	0.00012	0.0000	L	0.41236	1.265	0.80722	P	0.0	B	0.29378	0.243	B	0.25506	0.061	T	0.41305	-0.9516	9	0.41790	T	0.15	-5.7356	13.1106	0.59270	0.0:0.9007:0.0:0.0993	rs41307110;rs41428047;rs61753936;rs41307110	236	Q8NGC3	O10G2_HUMAN	T	236	ENSP00000445383:A236T	ENSP00000445383:A236T	A	-	1	0	OR10G2	21172133	0.000000	0.05858	0.819000	0.32651	0.005000	0.04900	-0.178000	0.09782	0.045000	0.15804	-2.571000	0.00171	GCT	C|0.750;T|0.250	0.250	weak		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			T	22102293	C	T	22102293	3	4	1	1	0	0	0	0	1	0	0	0	10899	768	27	1	229	1	OR10G2	14	22102293	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	2548613	22102293	85247247	208	208										
OR4E2	26686	hgsc.bcm.edu	37	chr14	22134018	22134018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaaagccctgtctacctgctCggcccacttcatggtggttg	11	13	2	0	rs61732411	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:22134018C>T	ENST00000408935.1	+	1	722	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTACCTGCTCGGCCCACTTC	0.527													C|||	699	0.139577	0.2526	0.1628	5008	,	,		21318	0.005		0.2038	False		,,,				2504	0.0429				p.S241L		Atlas-SNP	.											OR4E2,NS,carcinoma,-1,1	OR4E2	44	1	0			c.C722T						scavenged	.	C	LEU/SER	921,2999		109,703,1148	96	93	94		722	4.8	1	14	dbSNP_129	94	1719,6581		190,1339,2621	yes	missense	OR4E2	NM_001001912.1	145	299,2042,3769	TT,TC,CC		20.7108,23.4949,21.6039	benign	241/314	22134018	2640,9580	1960	4150	6110	SO:0001583	missense	26686	exon1			CCTGCTCGGCCCA		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.722C>T	14.37:g.22134018C>T	ENSP00000386195:p.Ser241Leu	Somatic	307	2	0.00651466		WXS	Illumina HiSeq	Phase_I	326	7	0.0214724	NM_001001912	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	CCDS41916.1	311	0.1423992673992674	106	0.21544715447154472	59	0.16298342541436464	2	0.0034965034965034965	144	0.18997361477572558	C	12.41	1.928415	0.34002	0.234949	0.207108	ENSG00000221977	ENST00000408935	T	0.35789	1.29	5.68	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.255127	0.19259	U	0.118721	T	0.00012	0.0000	L	0.59967	1.855	0.39721	P	0.02852600000000005	P	0.35363	0.497	B	0.33254	0.16	T	0.10474	-1.0628	9	0.54805	T	0.06	.	13.0304	0.58839	0.0:0.9212:0.0:0.0788	rs61732411	241	Q8NGC2	OR4E2_HUMAN	L	241	ENSP00000386195:S241L	ENSP00000386195:S241L	S	+	2	0	OR4E2	21203858	0.000000	0.05858	0.997000	0.53966	0.487000	0.33371	0.099000	0.15210	1.534000	0.49203	0.655000	0.94253	TCG	C|0.830;T|0.170	0.170	strong		0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22134018	C	T	22134018	3	4	1	1	0	0	0	0	1	0	0	0	11060	893	31	1	724	1	OR4E2	14	22134018	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	31725	22134018	85215522	209	209										
CPNE6	9362	hgsc.bcm.edu	37	chr14	24544773	24544773	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aagaagaattacaagagctcAgggacggtagtgctggccca	13	8	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:24544773A>C	ENST00000397016.2	+	10	1148	c.837A>C	c.(835-837)tcA>tcC	p.S279S	CPNE6_ENST00000216775.2_Silent_p.S279S|CPNE6_ENST00000537691.1_Silent_p.S334S	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	279					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACAAGAGCTCAGGGACGGTAG	0.552																																					p.S279S		Atlas-SNP	.											CPNE6,mouth,carcinoma,+1,1	CPNE6	40	1	0			c.A837C						PASS	.						104	89	94					14																	24544773		2203	4300	6503	SO:0001819	synonymous_variant	9362	exon9			GAGCTCAGGGACG	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.837A>C	14.37:g.24544773A>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	191	32	0.167539	NM_006032	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	CCDS9607.1																																																																																			.	.	none		0.552	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			C	24544773	A	C	24544773	2	2	1	1	0	0	0	0	0	0	0	1	3816	175	7	5		5	CPNE6	14	24544773	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2410755	24544773	82804767	210	210										
NYNRIN	57523	hgsc.bcm.edu	37	chr14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agggactggaagagggacccGctccagtgctgccaacaggg	16	11	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572																																					p.A513T		Atlas-SNP	.											.	NYNRIN	120	.	0			c.G1537A						PASS	.						39	42	41					14																	24878537		1934	4128	6062	SO:0001583	missense	57523	exon4			GGACCCGCTCCAG	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1537G>A	14.37:g.24878537G>A	ENSP00000371994:p.Ala513Thr	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	102	13	0.127451	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	g	7.747	0.702554	0.15172	.	.	ENSG00000205978	ENST00000382554	T	0.09817	2.94	4.63	-3.59	0.04583	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44314	-0.9336	9	0.07990	T	0.79	.	2.4094	0.04420	0.2503:0.0823:0.4134:0.2539	.	513	Q9P2P1	NYNRI_HUMAN	T	513	ENSP00000371994:A513T	ENSP00000371994:A513T	A	+	1	0	NYNRIN	23948377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-0.640000	0.05495	-2.194000	0.00310	GCT	.	.	none		0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24878537	G	A	24878537	3	1	1	1	0	0	0	0	1	0	0	0	10796	1087	38	1	1547	1	NYNRIN	14	24878537	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	333764	24878537	82471003	211	211										
SYT16	83851	hgsc.bcm.edu	37	chr14	62536400	62536400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atcaaacaatttgagatttcCgtgtcccggtcccagagttt	8	10	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:62536400C>T	ENST00000430451.2	+	2	800	c.603C>T	c.(601-603)tcC>tcT	p.S201S	SYT16_ENST00000446982.2_Silent_p.S201S|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	201					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGAGATTTCCGTGTCCCGGT	0.483																																					p.S201S		Atlas-SNP	.											.	SYT16	144	.	0			c.C603T						PASS	.						169	159	162					14																	62536400		1932	4125	6057	SO:0001819	synonymous_variant	83851	exon2			GATTTCCGTGTCC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.603C>T	14.37:g.62536400C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	227	50	0.220264	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	CCDS45121.1																																																																																			.	.	none		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62536400	C	T	62536400	2	4	1	1	0	0	0	0	0	0	0	1	15469	639	23	1		1	SYT16	14	62536400	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	37657863	62536400	44813140	212	212										
ENTPD5	957	hgsc.bcm.edu	37	chr14	74441684	74441684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agctttcaatccaaatcccaGgtaactgtaaaatacaggat	6	9	1	0	rs2074932	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:74441684G>A	ENST00000334696.6	-	11	1046	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	ENTPD5_ENST00000557325.1_Silent_p.L243L	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	243					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCAAATCCCAGGTAACTGTAA	0.483													A|||	2442	0.48762	0.3707	0.6787	5008	,	,		19267	0.2649		0.6123	False		,,,				2504	0.6115				p.L243L		Atlas-SNP	.											ENTPD5,NS,carcinoma,+1,1	ENTPD5	26	1	0			c.C727T						PASS	.	A		1737,2669	647.9+/-398.6	361,1015,827	139	129	132		727	5.3	1	14	dbSNP_96	132	5360,3240	486.5+/-371.9	1674,2012,614	no	coding-synonymous	ENTPD5	NM_001249.2		2035,3027,1441	AA,AG,GG		37.6744,39.4235,45.4329		243/429	74441684	7097,5909	2203	4300	6503	SO:0001819	synonymous_variant	957	exon11			ATCCCAGGTAACT	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.727C>T	14.37:g.74441684G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	116	7	0.0603448	NM_001249	A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	37	CCDS9825.1																																																																																			G|0.494;A|0.506	0.506	strong		0.483	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		A	74441684	G	A	74441684	2	1	1	1	0	0	0	0	0	0	0	1	5142	991	35	2		2	ENTPD5	14	74441684	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	11905284	74441684	32907856	213	213										
LTBP2	4053	hgsc.bcm.edu	37	chr14	74971792	74971792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cccaggacactggagcagggCgcatggcccttctgcccgga	14	15	1	0	rs61738017	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:74971792C>T	ENST00000261978.4	-	29	4649	c.4263G>A	c.(4261-4263)gcG>gcA	p.A1421A	LTBP2_ENST00000556690.1_Silent_p.A1377A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1421	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGAGCAGGGCGCATGGCCCT	0.662													C|||	101	0.0201677	0.0703	0.0101	5008	,	,		17322	0.0		0.0	False		,,,				2504	0.001				p.A1421A		Atlas-SNP	.											LTBP2,colon,carcinoma,-1,1	LTBP2	158	1	0			c.G4263A						PASS	.	C		268,4138	150.7+/-184.7	12,244,1947	48	48	48		4263	-7.4	0	14	dbSNP_129	48	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	LTBP2	NM_000428.2		12,256,6235	TT,TC,CC		0.1395,6.0826,2.1529		1421/1822	74971792	280,12726	2203	4300	6503	SO:0001819	synonymous_variant	4053	exon29			GCAGGGCGCATGG		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4263G>A	14.37:g.74971792C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	49	22	0.44898	NM_000428	Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																			C|0.979;T|0.021	0.021	strong		0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	74971792	C	T	74971792	2	4	1	1	0	0	0	0	0	0	0	1	9074	755	27	1		1	LTBP2	14	74971792	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	530108	74971792	32377748	214	214										
ATG2B	55102	hgsc.bcm.edu	37	chr14	96771961	96771961	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggagaagtgggagggactatTccaaaatcctttcctccata	10	9	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:96771961T>A	ENST00000359933.4	-	31	5591	c.4698A>T	c.(4696-4698)ggA>ggT	p.G1566G	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1566					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAGGGACTATTCCAAAATCCT	0.383																																					p.G1566G		Atlas-SNP	.											.	ATG2B	169	.	0			c.A4698T						PASS	.						67	63	64					14																	96771961		2203	4300	6503	SO:0001819	synonymous_variant	55102	exon31			GACTATTCCAAAA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4698A>T	14.37:g.96771961T>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	51	18	0.352941	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	CCDS9944.2																																																																																			.	.	none		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		A	96771961	T	A	96771961	2	1	1	1	0	0	0	0	0	0	0	1	1094	1770	62	5		5	ATG2B	14	96771961	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	21800169	96771961	10577579	215	215										
HSP90AA1	3320	hgsc.bcm.edu	37	chr14	102552577	102552577	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgatgaatttgaaatgagctCtctcagaaagatctctttgt	8	6	3	6			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:102552577C>G	ENST00000216281.8	-	2	344	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E169Q|HSP90AA1_ENST00000441629.2_5'UTR	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	47					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GAAATGAGCTCTCTCAGAAAG	0.403																																					p.E169Q		Atlas-SNP	.											.	HSP90AA1	65	.	0			c.G505C						PASS	.						51	53	52					14																	102552577		2203	4300	6503	SO:0001583	missense	3320	exon3			TGAGCTCTCTCAG	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.139G>C	14.37:g.102552577C>G	ENSP00000216281:p.Glu47Gln	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	117	30	0.25641	NM_001017963	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840777	0.16891	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	D;D;D	0.85411	-1.98;-1.98;-1.98	3.79	2.88	0.33553	Heat shock protein Hsp90, conserved site (1);Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	D	0.96522	0.8865	H	0.99993	5.365	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.78314	0.99;0.991	D	0.96129	0.9091	10	0.87932	D	0	.	12.6451	0.56729	0.1672:0.8328:0.0:0.0	.	169;47	P07900-2;P07900	.;HS90A_HUMAN	Q	47;169;47	ENSP00000216281:E47Q;ENSP00000335153:E169Q;ENSP00000450712:E47Q	ENSP00000216281:E47Q	E	-	1	0	HSP90AA1	101622330	1.000000	0.71417	0.999000	0.59377	0.175000	0.22909	7.473000	0.81007	0.694000	0.31654	-0.312000	0.09012	GAG	.	.	none		0.403	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		G	102552577	C	G	102552577	3	3	1	1	0	0	0	0	1	0	0	0	7401	922	32	4	2099	4	HSP90AA1	14	102552577	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	5780616	102552577	4796963	216	216										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418119	105418119	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcacgtccacctggccagcGtggacctccaggtcagcgga	12	15	2	0	rs201187390	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr14:105418119G>C	ENST00000333244.5	-	7	3788	c.3669C>G	c.(3667-3669)caC>caG	p.H1223Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1223						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGCCAGCGTGGACCTCCA	0.632													.|||	963	0.192292	0.0787	0.2334	5008	,	,		14203	0.0585		0.3439	False		,,,				2504	0.2986				p.H1223Q		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.C3669G						scavenged	.						81	58	66					14																	105418119		1913	3852	5765	SO:0001583	missense	113146	exon7			GCCAGCGTGGACC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3669C>G	14.37:g.105418119G>C	ENSP00000353114:p.His1223Gln	Somatic	4	4	1		WXS	Illumina HiSeq	Phase_I	9	9	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	3.891	-0.024009	0.07634	.	.	ENSG00000185567	ENST00000333244	T	0.00664	5.92	4.55	0.472	0.16758	.	.	.	.	.	T	0.00241	0.0007	N	0.00099	-2.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	9	0.12766	T	0.61	.	4.3186	0.11005	0.0:0.3151:0.3178:0.3671	.	1223	Q8IVF2	AHNK2_HUMAN	Q	1223	ENSP00000353114:H1223Q	ENSP00000353114:H1223Q	H	-	3	2	AHNAK2	104489164	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.576000	0.02129	0.044000	0.15775	-0.322000	0.08575	CAC	.	.	weak		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418119	G	C	105418119	3	2	1	1	0	0	0	0	1	0	0	0	415	1136	40	4	13722	4	AHNAK2	14	105418119	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2865542	105418119	1931421	217	217										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27765242	27765242	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtgtcattttggatcaaaaaAgatgctacgccagcaagaac	9	8	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr15:27765242A>C	ENST00000333743.6	+	7	1091	c.837A>C	c.(835-837)aaA>aaC	p.K279N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	279					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATCAAAAAAGATGCTACGC	0.348																																					p.K279N	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.A837C						PASS	.						65	61	62					15																	27765242		1844	4105	5949	SO:0001583	missense	2567	exon7			CAAAAAAGATGCT		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.837A>C	15.37:g.27765242A>C	ENSP00000331912:p.Lys279Asn	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	26	0.209677	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.47|18.47	3.630222|3.630222	0.67015|0.67015	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743;ENST00000554696|ENST00000451330	D;D|D	0.86097|0.86030	-2.07;-2.07|-2.06	5.3|5.3	1.55|1.55	0.23275|0.23275	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.208504|0.208504	0.49916|0.49916	D|D	0.000133|0.000133	D|D	0.83982|0.83982	0.5372|0.5372	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D|.	0.56521|.	0.976|.	P|.	0.62560|.	0.904|.	T|T	0.80908|0.80908	-0.1172|-0.1172	10|8	0.66056|0.54805	D|T	0.02|0.06	.|.	8.4792|8.4792	0.33032|0.33032	0.6971:0.0:0.3029:0.0|0.6971:0.0:0.3029:0.0	.|.	279|.	Q99928|.	GBRG3_HUMAN|.	N|T	279;221|42	ENSP00000331912:K279N;ENSP00000451862:K221N|ENSP00000390708:K42T	ENSP00000331912:K279N|ENSP00000390708:K88T	K|K	+|+	3|2	2|0	GABRG3|GABRG3	25438837|25438837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.094000|1.094000	0.30951|0.30951	0.430000|0.430000	0.26230|0.26230	0.528000|0.528000	0.53228|0.53228	AAA|AAG	.	.	none		0.348	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			C	27765242	A	C	27765242	3	2	1	1	0	0	0	0	1	0	0	0	6173	69	3	5	863	5	GABRG3	15	27765242	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10		27765242	74766150	218	218										
STRC	161497	hgsc.bcm.edu	37	chr15	43892847	43892847	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agttgttcctcagagcactgGagatgcagggtgccgaggaa	15	8	1	2	rs12438025	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr15:43892847G>C	ENST00000450892.2	-	26	4955	c.4878C>G	c.(4876-4878)ctC>ctG	p.L1626L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L853L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1626					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGAGCACTGGAGATGCAGGG	0.532													G|||	1475	0.294529	0.556	0.2032	5008	,	,		20056	0.2718		0.0994	False		,,,				2504	0.2301				p.L1626L		Atlas-SNP	.											STRC_ENST00000450892,colon,carcinoma,0,1	STRC	58	1	0			c.C4878G						scavenged	.	G		2041,2359	541.9+/-375.9	485,1071,644	55	64	61		4878	2.9	1	15	dbSNP_120	61	846,7748	189.1+/-236.0	50,746,3501	no	coding-synonymous	STRC	NM_153700.2		535,1817,4145	CC,CG,GG		9.8441,46.3864,22.2179		1626/1776	43892847	2887,10107	2200	4297	6497	SO:0001819	synonymous_variant	161497	exon26			GCACTGGAGATGC	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4878C>G	15.37:g.43892847G>C		Somatic	346	2	0.00578035		WXS	Illumina HiSeq	Phase_I	272	3	0.0110294	NM_153700		Silent	SNP	ENST00000450892.2	37	CCDS10098.1																																																																																			G|0.784;C|0.216	0.216	strong		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		C	43892847	G	C	43892847	2	2	1	1	0	0	0	0	0	0	0	1	15327	1161	41	4		4	STRC	15	43892847	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	16127605	43892847	58638545	219	219										
SPG11	80208	hgsc.bcm.edu	37	chr15	44943757	44943757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tacactttgtgccaagggaaAaacactgcatgccctgggtc	10	11	0	0	rs3759871	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr15:44943757A>G	ENST00000261866.7	-	6	1404	c.1388T>C	c.(1387-1389)tTt>tCt	p.F463S	SPG11_ENST00000558319.1_Missense_Mutation_p.F463S|SPG11_ENST00000559193.1_Missense_Mutation_p.F463S|SPG11_ENST00000535302.2_Missense_Mutation_p.F463S|SPG11_ENST00000427534.2_Missense_Mutation_p.F463S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	463			F -> S (in dbSNP:rs3759871). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F463S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCCAAGGGAAAAACACTGCAT	0.463													A|||	2378	0.47484	0.5234	0.5893	5008	,	,		20546	0.4653		0.4513	False		,,,				2504	0.362				p.F463S		Atlas-SNP	.											SPG11,NS,carcinoma,0,1	SPG11	207	1	1	Substitution - Missense(1)	stomach(1)	c.T1388C						scavenged	.	A	SER/PHE,SER/PHE	2310,2086	603.0+/-390.0	609,1092,497	118	110	113	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1388,1388	4.9	0.9	15	dbSNP_107	113	3917,4679	547.6+/-385.2	924,2069,1305	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	155,155	1533,3161,1802	GG,GA,AA		45.5677,47.4522,47.9295	benign,benign	463/2331,463/2444	44943757	6227,6765	2198	4298	6496	SO:0001583	missense	80208	exon6			AGGGAAAAACACT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1388T>C	15.37:g.44943757A>G	ENSP00000261866:p.Phe463Ser	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	166	3	0.0180723	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	1075	0.49221611721611724	254	0.516260162601626	206	0.569060773480663	283	0.49475524475524474	332	0.43799472295514513	A	10.01	1.234381	0.22626	0.525478	0.455677	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76060	-0.99;-0.73;-0.73	6.06	4.93	0.64822	.	0.209291	0.42053	D	0.000773	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B;B;B;B	0.22211	0.021;0.066;0.053;0.021	B;B;B;B	0.18561	0.009;0.02;0.022;0.008	T	0.48514	-0.9029	9	0.26408	T	0.33	.	3.1014	0.06327	0.6352:0.1486:0.0744:0.1418	rs3759871;rs52807288;rs59538210;rs3759871	463;463;463;463	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	S	463	ENSP00000261866:F463S;ENSP00000445278:F463S;ENSP00000396110:F463S	ENSP00000261866:F463S	F	-	2	0	SPG11	42731049	0.042000	0.20092	0.856000	0.33681	0.991000	0.79684	1.226000	0.32563	1.092000	0.41356	0.533000	0.62120	TTT	A|0.523;G|0.477	0.477	strong		0.463	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44943757	A	G	44943757	3	3	1	1	0	0	0	0	1	0	0	0	15040	14	1	2	6083	2	SPG11	15	44943757	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1050910	44943757	57587635	220	220										
ZNF592	9640	hgsc.bcm.edu	37	chr15	85328068	85328068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgaatgtcacaagcagatgcGggactacatggtcctggctg	13	9	1	2	rs549731730		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr15:85328068G>A	ENST00000560079.2	+	4	2450	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	ZNF592_ENST00000299927.3_Missense_Mutation_p.R721Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	721					cell death (GO:0008219)|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(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGCAGATGCGGGACTACATG	0.582																																					p.R721Q		Atlas-SNP	.											.	ZNF592	95	.	0			c.G2162A						PASS	.						77	71	73					15																	85328068		2203	4299	6502	SO:0001583	missense	9640	exon4			AGATGCGGGACTA	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2162G>A	15.37:g.85328068G>A	ENSP00000452877:p.Arg721Gln	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	286	54	0.188811	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234764	0.09969	.	.	ENSG00000166716	ENST00000299927	T	0.28454	1.61	6.07	1.72	0.24424	Zinc finger, C2H2-like (1);	0.573110	0.19945	N	0.102543	T	0.19127	0.0459	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35475	-0.9787	10	0.02654	T	1	-6.9559	6.7387	0.23422	0.4709:0.0:0.5291:0.0	.	721	Q92610	ZN592_HUMAN	Q	721	ENSP00000299927:R721Q	ENSP00000299927:R721Q	R	+	2	0	ZNF592	83129072	0.011000	0.17503	0.647000	0.29507	0.998000	0.95712	0.820000	0.27323	0.467000	0.27218	0.655000	0.94253	CGG	.	.	none		0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		A	85328068	G	A	85328068	3	1	1	1	0	0	0	0	1	0	0	0	18019	1116	39	1	2164	1	ZNF592	15	85328068	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	40384311	85328068	17203324	221	221										
TMEM8A	58986	hgsc.bcm.edu	37	chr16	427479	427479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggaggcattgcttctcggtgTggtgctcagcggcaccccga	15	12	2	0	rs11248931	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:427479T>C	ENST00000431232.2	-	3	566	c.406A>G	c.(406-408)Aca>Gca	p.T136A	TMEM8A_ENST00000476735.1_5'UTR|TMEM8A_ENST00000250930.3_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	136			T -> A (in dbSNP:rs11248931). {ECO:0000269|PubMed:11006113, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTTCTCGGTGTGGTGCTCAGC	0.682											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	2677	0.534545	0.6188	0.4755	5008	,	,		15166	0.3006		0.5408	False		,,,				2504	0.6973				p.T136A		Atlas-SNP	.											TMEM8A,colon,carcinoma,0,1	TMEM8A	49	1	0			c.A406G						scavenged	.	C	ALA/THR	2729,1649		847,1035,307	22	22	22		406	1	0	16	dbSNP_120	22	4876,3718		1417,2042,838	yes	missense	TMEM8A	NM_021259.2	58	2264,3077,1145	CC,CT,TT		43.2627,37.6656,41.3737	benign	136/772	427479	7605,5367	2189	4297	6486	SO:0001583	missense	58986	exon3			TCGGTGTGGTGCT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.406A>G	16.37:g.427479T>C	ENSP00000401338:p.Thr136Ala	Somatic	22	2	0.0909091	588	WXS	Illumina HiSeq	Phase_I	43	15	0.348837	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	1089	0.49862637362637363	335	0.6808943089430894	181	0.5	163	0.28496503496503495	410	0.5408970976253298	C	0.003	-2.441316	0.00180	0.623344	0.567373	ENSG00000129925	ENST00000431232	T	0.23147	1.92	3.34	0.981	0.19756	.	3.558320	0.02310	N	0.072046	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	9	0.06099	T	0.92	-8.0545	4.5877	0.12291	0.15:0.2114:0.0:0.6386	rs11248931;rs17845652;rs17858586;rs57237473;rs11248931	136	Q9HCN3	TMM8A_HUMAN	A	136	ENSP00000401338:T136A	ENSP00000401338:T136A	T	-	1	0	TMEM8A	367480	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.411000	0.02478	-0.100000	0.12241	-1.309000	0.01313	ACA	T|0.463;C|0.537	0.537	strong		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		C	427479	T	C	427479	3	2	1	1	0	0	0	0	1	0	0	0	16211	1696	59	2	1953	2	TMEM8A	16	427479	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10		427479	89927274	222	222										
TMEM8A	58986	hgsc.bcm.edu	37	chr16	427516	427516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccgacctggaaggagggctgTaccgcggtgtcgtccgggaa	17	11	0	0	rs11649031	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:427516T>C	ENST00000431232.2	-	3	529	c.369A>G	c.(367-369)gtA>gtG	p.V123V	TMEM8A_ENST00000476735.1_5'UTR|TMEM8A_ENST00000250930.3_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	123					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGAGGGCTGTACCGCGGTGT	0.692											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	2859	0.570887	0.736	0.4885	5008	,	,		15299	0.3036		0.5437	False		,,,				2504	0.7096				p.V123V		Atlas-SNP	.											TMEM8A,colon,carcinoma,0,2	TMEM8A	49	2	0			c.A369G						scavenged	.	C		3129,1243		1125,879,182	19	19	19		369	-0.5	0	16	dbSNP_120	19	4870,3712		1419,2032,840	no	coding-synonymous	TMEM8A	NM_021259.2		2544,2911,1022	CC,CT,TT		43.2533,28.4309,38.2507		123/772	427516	7999,4955	2186	4291	6477	SO:0001819	synonymous_variant	58986	exon3			GGGCTGTACCGCG	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.369A>G	16.37:g.427516T>C		Somatic	22	1	0.0454545	588	WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	CCDS10407.1																																																																																			T|0.429;C|0.571	0.571	strong		0.692	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		C	427516	T	C	427516	2	2	1	1	0	0	0	0	0	0	0	1	16211	1625	57	2		2	TMEM8A	16	427516	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	37	427516	89927237	223	223										
CHTF18	63922	hgsc.bcm.edu	37	chr16	847932	847932	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccgcttcaacgagggtgtctCcaacgccgtgcggcgcagcc	13	16	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:847932C>G	ENST00000262315.9	+	22	2948	c.2885C>G	c.(2884-2886)tCc>tGc	p.S962C	CHTF18_ENST00000317063.6_Missense_Mutation_p.S1171C|CHTF18_ENST00000455171.2_Missense_Mutation_p.S990C	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	962					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GAGGGTGTCTCCAACGCCGTG	0.657																																					p.S962C		Atlas-SNP	.											.	CHTF18	52	.	0			c.C2885G						PASS	.						33	40	38					16																	847932		2120	4231	6351	SO:0001583	missense	63922	exon22			GTGTCTCCAACGC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2885C>G	16.37:g.847932C>G	ENSP00000262315:p.Ser962Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	81	7	0.0864198	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196489	0.58126	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.22134	1.97;2.11;2.08	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57711	-0.7764	10	0.87932	D	0	-42.161	17.6563	0.88179	0.0:1.0:0.0:0.0	.	990;962	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	C	1171;990;962	ENSP00000313029:S1171C;ENSP00000406252:S990C;ENSP00000262315:S962C	ENSP00000262315:S962C	S	+	2	0	CHTF18	787933	1.000000	0.71417	0.996000	0.52242	0.334000	0.28698	7.419000	0.80179	2.529000	0.85273	0.561000	0.74099	TCC	.	.	none		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	847932	C	G	847932	3	3	1	1	0	0	0	0	1	0	0	0	3414	855	30	4	2971	4	CHTF18	16	847932	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	420416	847932	89506821	224	224										
CCDC64B	146439	hgsc.bcm.edu	37	chr16	3078165	3078165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgggcccggggcccaggcgcAgcgagaagcggggcgcggca	21	14	0	1	rs12448103	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:3078165A>G	ENST00000572449.1	-	10	1531	c.1469T>C	c.(1468-1470)cTg>cCg	p.L490P	CCDC64B_ENST00000573514.1_Missense_Mutation_p.L283P|CCDC64B_ENST00000389347.4_Missense_Mutation_p.L490P			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	490										breast(1)|endometrium(2)|large_intestine(1)	4						GCCCAGGCGCAGCGAGAAGCG	0.716													A|||	909	0.18151	0.0492	0.2925	5008	,	,		10148	0.128		0.2356	False		,,,				2504	0.2812				p.L490P		Atlas-SNP	.											CCDC64B,NS,carcinoma,0,1	CCDC64B	19	1	0			c.T1469C						scavenged	.	A	PRO/LEU	205,3283		5,195,1544	4	5	5		1469	5.2	0.8	16	dbSNP_120	5	1331,6363		97,1137,2613	yes	missense	CCDC64B	NM_001103175.1	98	102,1332,4157	GG,GA,AA		17.2992,5.8773,13.7364	probably-damaging	490/509	3078165	1536,9646	1744	3847	5591	SO:0001583	missense	146439	exon9			AGGCGCAGCGAGA	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1469T>C	16.37:g.3078165A>G	ENSP00000459043:p.Leu490Pro	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	3	0.75	NM_001103175	Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	CCDS45393.1	382	0.1749084249084249	26	0.052845528455284556	112	0.30939226519337015	64	0.11188811188811189	180	0.23746701846965698	a	17.73	3.462111	0.63513	0.058773	0.172992	ENSG00000162069	ENST00000389347	T	0.36157	1.27	5.15	5.15	0.70609	.	0.119688	0.34879	N	0.003617	T	0.00012	0.0000	M	0.68952	2.095	0.23473	P	0.99760263	D	0.89917	1.0	D	0.91635	0.999	T	0.26018	-1.0115	9	0.30854	T	0.27	-7.2384	11.3817	0.49761	1.0:0.0:0.0:0.0	rs12448103	490	A1A5D9	BICR2_HUMAN	P	490	ENSP00000373998:L490P	ENSP00000373998:L490P	L	-	2	0	CCDC64B	3018166	0.249000	0.23941	0.820000	0.32676	0.129000	0.20672	0.546000	0.23284	1.957000	0.56846	0.454000	0.30748	CTG	A|0.823;G|0.177	0.177	strong		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			G	3078165	A	G	3078165	3	3	1	1	0	0	0	0	1	0	0	0	2836	188	7	3	61	3	CCDC64B	16	3078165	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2230233	3078165	87276588	225	225										
GLYR1	84656	hgsc.bcm.edu	37	chr16	4882161	4882161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctcatcacctgagtttggcCtacttctctcctcactggaa	6	14	4	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:4882161C>T	ENST00000321919.9	-	5	432	c.356G>A	c.(355-357)aGg>aAg	p.R119K	GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Missense_Mutation_p.R119K|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.R119K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	119					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TGAGTTTGGCCTACTTCTCTC	0.433																																					p.R119K		Atlas-SNP	.											.	GLYR1	49	.	0			c.G356A						PASS	.						177	156	163					16																	4882161		2197	4300	6497	SO:0001583	missense	84656	exon5			TTTGGCCTACTTC	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.356G>A	16.37:g.4882161C>T	ENSP00000322716:p.Arg119Lys	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	255	43	0.168627	NM_032569	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651816	0.29336	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.61742	0.08;0.08	5.29	4.32	0.51571	.	0.300170	0.38326	N	0.001739	T	0.33673	0.0871	N	0.08118	0	0.28988	N	0.888228	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13045	-1.0524	10	0.37606	T	0.19	-24.4605	8.8028	0.34918	0.0:0.8427:0.0:0.1573	.	119;119;119	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	K	119	ENSP00000322716:R119K;ENSP00000371413:R119K	ENSP00000322716:R119K	R	-	2	0	GLYR1	4822162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.203000	0.42752	2.634000	0.89283	0.650000	0.86243	AGG	.	.	none		0.433	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		T	4882161	C	T	4882161	3	4	1	1	0	0	0	0	1	0	0	0	6483	681	24	2	1353	2	GLYR1	16	4882161	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1803996	4882161	85472592	226	226										
USP31	57478	hgsc.bcm.edu	37	chr16	23117736	23117736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atacctgtattgcgcttgaaAgagttcttgtacaaaagtgc	9	7	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:23117736A>C	ENST00000219689.7	-	3	843	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	213	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCGCTTGAAAGAGTTCTTGT	0.388																																					p.F282V		Atlas-SNP	.											.	USP31	122	.	0			c.T844G						PASS	.						79	72	75					16																	23117736		2197	4300	6497	SO:0001583	missense	57478	exon3			CTTGAAAGAGTTC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.844T>G	16.37:g.23117736A>C	ENSP00000219689:p.Phe282Val	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	249	40	0.160643	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559863	0.86335	.	.	ENSG00000103404	ENST00000219689	T	0.48522	0.81	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.060995	0.64402	D	0.000003	T	0.74824	0.3767	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.81360	-0.0968	10	0.87932	D	0	-20.3252	15.0849	0.72145	1.0:0.0:0.0:0.0	.	282	Q70CQ4	UBP31_HUMAN	V	282	ENSP00000219689:F282V	ENSP00000219689:F282V	F	-	1	0	USP31	23025237	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.851000	0.92205	2.214000	0.71695	0.523000	0.50628	TTT	.	.	none		0.388	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		C	23117736	A	C	23117736	3	2	1	1	0	0	0	0	1	0	0	0	17059	72	3	5	3270	5	USP31	16	23117736	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	18235575	23117736	67237017	227	227										
RABEP2	79874	hgsc.bcm.edu	37	chr16	28935738	28935738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctcacctttcaggatggccTgcagcgaggccacctcctct	9	16	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:28935738T>C	ENST00000358201.4	-	2	848	c.260A>G	c.(259-261)cAg>cGg	p.Q87R	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_Missense_Mutation_p.Q87R|RABEP2_ENST00000544477.1_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	87					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CAGGATGGCCTGCAGCGAGGC	0.607																																					p.Q87R	Pancreas(66;639 1284 10093 31061 49099)	Atlas-SNP	.											.	RABEP2	48	.	0			c.A260G						PASS	.						47	49	48					16																	28935738		2102	4240	6342	SO:0001583	missense	79874	exon2			ATGGCCTGCAGCG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.260A>G	16.37:g.28935738T>C	ENSP00000350934:p.Gln87Arg	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	81	10	0.123457	NM_024816		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637917	0.47049	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.58210	0.39;0.35	4.29	4.29	0.51040	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.58810	1.83	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.994	D;D;D	0.81914	0.979;0.995;0.988	T	0.70461	-0.4865	10	0.72032	D	0.01	-26.7142	12.7364	0.57228	0.0:0.0:0.0:1.0	.	87;87;87	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	R	87	ENSP00000350934:Q87R;ENSP00000350186:Q87R	ENSP00000350186:Q87R	Q	-	2	0	RABEP2	28843239	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.284000	0.78650	1.711000	0.51337	0.454000	0.30748	CAG	.	.	none		0.607	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		C	28935738	T	C	28935738	3	2	1	1	0	0	0	0	1	0	0	0	12962	1580	55	3	1497	3	RABEP2	16	28935738	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5818002	28935738	61419015	228	228										
ZNF629	23361	hgsc.bcm.edu	37	chr16	30795076	30795076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgctggtgctgcaccaggtgCgagctctgcgtgaagctctt	14	12	2	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:30795076C>T	ENST00000262525.4	-	3	780	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCACCAGGTGCGAGCTCTGCG	0.662																																					p.S191S		Atlas-SNP	.											ZNF629,colon,carcinoma,-1,1	ZNF629	44	1	0			c.G573A						PASS	.						45	47	46					16																	30795076		2197	4300	6497	SO:0001819	synonymous_variant	23361	exon3			CAGGTGCGAGCTC	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.573G>A	16.37:g.30795076C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	20	7	0.35	NM_001080417	Q15938	Silent	SNP	ENST00000262525.4	37	CCDS45463.1																																																																																			.	.	none		0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		T	30795076	C	T	30795076	2	4	1	1	0	0	0	0	0	0	0	1	18050	755	27	1		1	ZNF629	16	30795076	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1859338	30795076	59559677	229	229										
HSD3B7	80270	hgsc.bcm.edu	37	chr16	30997460	30997460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agcccatgtggtcatccacaCggctgggctggtagacgtgt	14	11	1	1	rs371576756		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:30997460C>T	ENST00000297679.5	+	3	350	c.257C>T	c.(256-258)aCg>aTg	p.T86M	HSD3B7_ENST00000262520.6_Missense_Mutation_p.T86M|HSD3B7_ENST00000353250.5_Missense_Mutation_p.T86M|AC135048.1_ENST00000602217.1_Missense_Mutation_p.R25H	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	86					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTCATCCACACGGCTGGGCTG	0.652																																					p.T86M		Atlas-SNP	.											.	HSD3B7	33	.	0			c.C257T						PASS	.	C	MET/THR,MET/THR,MET/THR	1,4393	2.1+/-5.4	0,1,2196	56	48	51		257,257,257	0.2	0.9	16		51	0,8600		0,0,4300	no	missense,missense,missense	HSD3B7	NM_001142777.1,NM_001142778.1,NM_025193.3	81,81,81	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	86/197,86/197,86/370	30997460	1,12993	2197	4300	6497	SO:0001583	missense	80270	exon3			TCCACACGGCTGG	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.257C>T	16.37:g.30997460C>T	ENSP00000297679:p.Thr86Met	Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	355	74	0.208451	NM_025193	Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442073	0.63067	2.28E-4	0.0	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.88586	-2.4;-2.4;-2.03	4.84	0.206	0.15208	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.448337	0.25391	N	0.031012	D	0.86222	0.5881	L	0.53617	1.68	0.27401	N	0.954856	P;P	0.51057	0.941;0.895	P;P	0.46850	0.473;0.529	T	0.80193	-0.1484	10	0.62326	D	0.03	-0.1907	9.4723	0.38851	0.0:0.6139:0.0:0.3861	.	86;86	Q96M28;Q9H2F3	.;3BHS7_HUMAN	M	86	ENSP00000262520:T86M;ENSP00000370662:T86M;ENSP00000297679:T86M	ENSP00000262520:T86M	T	+	2	0	HSD3B7	30904961	0.025000	0.19082	0.859000	0.33776	0.922000	0.55478	1.024000	0.30077	0.198000	0.20407	-0.377000	0.06932	ACG	.	.	weak		0.652	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			T	30997460	C	T	30997460	3	4	1	1	0	0	0	0	1	0	0	0	7392	536	19	1	263	1	HSD3B7	16	30997460	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	202384	30997460	59357293	230	230										
TOX3	27324	hgsc.bcm.edu	37	chr16	52478202	52478202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtttaccttagaaacgaggcTggccctgtatgccgccaggg	13	11	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:52478202T>C	ENST00000219746.9	-	6	1257	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	TOX3_ENST00000407228.3_Missense_Mutation_p.S320G	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	325					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAAACGAGGCTGGCCCTGTAT	0.478																																					p.S325G		Atlas-SNP	.											.	TOX3	121	.	0			c.A973G						PASS	.						44	43	43					16																	52478202		1826	4090	5916	SO:0001583	missense	27324	exon6			CGAGGCTGGCCCT	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.973A>G	16.37:g.52478202T>C	ENSP00000219746:p.Ser325Gly	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	63	7	0.111111	NM_001080430	B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873421	0.72180	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.45668	0.89;0.89	5.35	5.35	0.76521	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	L	0.27053	0.805	0.58432	D	0.999997	P;P	0.35612	0.512;0.512	B;B	0.42522	0.39;0.39	T	0.37865	-0.9687	10	0.59425	D	0.04	.	15.6388	0.76977	0.0:0.0:0.0:1.0	.	320;325	B4DRD0;O15405	.;TOX3_HUMAN	G	325;320	ENSP00000219746:S325G;ENSP00000385705:S320G	ENSP00000219746:S325G	S	-	1	0	TOX3	51035703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.232000	0.72313	2.169000	0.68431	0.528000	0.53228	AGC	.	.	none		0.478	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		C	52478202	T	C	52478202	3	2	1	1	0	0	0	0	1	0	0	0	16376	1580	55	3	765	3	TOX3	16	52478202	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	21480742	52478202	37876551	231	231										
MMP15	4324	hgsc.bcm.edu	37	chr16	58079165	58079165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gggccggggtcaacaaggacGggggcagccgcgtggtggtg	22	9	1	0	rs3743563	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:58079165G>A	ENST00000219271.3	+	10	2610	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	609			G -> R (in dbSNP:rs3743563). {ECO:0000269|PubMed:9119382, ECO:0000269|Ref.2}.		cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G609R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CAACAAGGACGGGGGCAGCCG	0.701													G|||	996	0.198882	0.0318	0.3963	5008	,	,		11871	0.3462		0.1829	False		,,,				2504	0.1493				p.G609R		Atlas-SNP	.											MMP15,hand,carcinoma,0,3	MMP15	58	3	2	Substitution - Missense(2)	central_nervous_system(1)|skin(1)	c.G1825A						scavenged	.	G	ARG/GLY	308,4086	156.6+/-189.7	15,278,1904	105	117	113		1825	3.7	1	16	dbSNP_107	113	1645,6955	282.4+/-295.5	161,1323,2816	yes	missense	MMP15	NM_002428.2	125	176,1601,4720	AA,AG,GG		19.1279,7.0096,15.03	possibly-damaging	609/670	58079165	1953,11041	2197	4300	6497	SO:0001583	missense	4324	exon10			AAGGACGGGGGCA	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1825G>A	16.37:g.58079165G>A	ENSP00000219271:p.Gly609Arg	Somatic	7	1	0.142857		WXS	Illumina HiSeq	Phase_I	13	6	0.461538	NM_002428	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	482	0.2206959706959707	24	0.04878048780487805	111	0.30662983425414364	199	0.3479020979020979	148	0.19525065963060687	G	13.06	2.125616	0.37533	0.070096	0.191279	ENSG00000102996	ENST00000219271	T	0.28069	1.63	4.65	3.69	0.42338	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.368453	0.32081	N	0.006618	T	0.00012	0.0000	N	0.21448	0.665	0.35109	P	0.23400299999999996	B	0.23854	0.092	B	0.19946	0.027	T	0.45804	-0.9236	9	0.17369	T	0.5	.	8.5638	0.33527	0.1046:0.0:0.8954:0.0	rs3743563;rs3743563	609	P51511	MMP15_HUMAN	R	609	ENSP00000219271:G609R	ENSP00000219271:G609R	G	+	1	0	MMP15	56636666	1.000000	0.71417	0.982000	0.44146	0.606000	0.37113	6.421000	0.73353	1.184000	0.42957	0.555000	0.69702	GGG	G|0.829;A|0.171	0.171	strong		0.701	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		A	58079165	G	A	58079165	3	1	1	1	0	0	0	0	1	0	0	0	9654	1116	39	1	1863	1	MMP15	16	58079165	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	5600963	58079165	32275588	232	232										
CNOT1	23019	hgsc.bcm.edu	37	chr16	58577327	58577327	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atataacagaaaaaaaaaaaAacacacagacatgatgcttt	4	6	0	3	rs556592424		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:58577327A>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000441024.2_Missense_Mutation_p.F1540V|CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaaaacacacagac	0.299													A|||	1	0.000199681	0.0	0.0	5008	,	,		18548	0.0		0.001	False		,,,				2504	0.0				p.F1540V		Atlas-SNP	.											CNOT1_ENST00000441024,caecum,carcinoma,0,1	CNOT1	359	1	0			c.T4618G						scavenged	.						20	20	20					16																	58577327		1013	2122	3135	SO:0001627	intron_variant	23019	exon31			AAAAAAAACACAC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+183T>G	16.37:g.58577327A>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	83	3	0.0361446	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119968	0.08881	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	1.6	-3.2	0.05156	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	8	0.87932	D	0	.	5.872	0.18809	0.2548:0.5872:0.158:0.0	.	1540	A5YKK6-4	.	V	1540	ENSP00000413113:F1540V	ENSP00000413113:F1540V	F	-	1	0	CNOT1	57134828	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.507000	0.22675	-2.105000	0.00842	-1.344000	0.01245	TTT	.	.	none		0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58577327	A	C	58577327	1	2	1	0	1	0	0	0	0	0	0	0	3617	14	1	5		5	CNOT1	16	58577327	Intron	SNP	A	TCGA-FA-8693-01A-11D-2397-10	498162	58577327	31777426	233	233										
CDH3	1001	hgsc.bcm.edu	37	chr16	68719113	68719113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acttttcctctccagctaccGcatcctgagagacccagcag	7	16	1	2	rs34494880	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:68719113G>A	ENST00000264012.4	+	11	1974	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	CDH3_ENST00000581171.1_Missense_Mutation_p.R422H|CDH3_ENST00000429102.2_Missense_Mutation_p.R477H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	477	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> H (in dbSNP:rs34494880).		adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCCAGCTACCGCATCCTGAGA	0.542													G|||	130	0.0259585	0.0023	0.0173	5008	,	,		20212	0.0		0.0596	False		,,,				2504	0.0562				p.R477H		Atlas-SNP	.											.	CDH3	68	.	2	Unknown(2)	breast(2)	c.G1430A						PASS	.	G	HIS/ARG	65,4331	61.1+/-98.1	0,65,2133	80	70	73		1430	0.6	1	16	dbSNP_126	73	645,7955	166.1+/-218.1	26,593,3681	yes	missense	CDH3	NM_001793.4	29	26,658,5814	AA,AG,GG		7.5,1.4786,5.4632	benign	477/830	68719113	710,12286	2198	4300	6498	SO:0001583	missense	1001	exon11			GCTACCGCATCCT	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1430G>A	16.37:g.68719113G>A	ENSP00000264012:p.Arg477His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_001793	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	63	0.028846153846153848	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	55	0.07255936675461741	G	11.26	1.584836	0.28268	0.014786	0.075	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.53640	0.61;0.61	5.58	0.567	0.17325	Cadherin (4);Cadherin-like (1);	0.911629	0.09141	N	0.842988	T	0.02193	0.0068	L	0.28014	0.82	0.24544	N	0.994051	B	0.13145	0.007	B	0.12837	0.008	T	0.13548	-1.0505	10	0.35671	T	0.21	.	0.9118	0.01296	0.4382:0.1566:0.2544:0.1508	rs34494880	477	P22223	CADH3_HUMAN	H	477;477;422	ENSP00000398485:R477H;ENSP00000264012:R477H	ENSP00000264012:R477H	R	+	2	0	CDH3	67276614	0.000000	0.05858	0.999000	0.59377	0.725000	0.41563	-0.843000	0.04350	0.072000	0.16694	-0.672000	0.03802	CGC	G|0.953;A|0.047	0.047	strong		0.542	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		A	68719113	G	A	68719113	3	1	1	1	0	0	0	0	1	0	0	0	3111	1087	38	1	1472	1	CDH3	16	68719113	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	10141786	68719113	21635640	234	234										
BCAR1	9564	hgsc.bcm.edu	37	chr16	75276775	75276775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cggggtggcgggagggccggGgccaggccctgctggcttct	21	12	1	0	rs1035539	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr16:75276775G>A	ENST00000162330.5	-	2	352	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	BCAR1_ENST00000546196.1_Missense_Mutation_p.P47S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P122S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P76S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P94S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Missense_Mutation_p.P74S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P76S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	76	Pro-rich.		P -> S (in dbSNP:rs1035539). {ECO:0000269|PubMed:10639512, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGGCCGGGGCCAGGCCCT	0.692													G|||	2974	0.59385	0.3427	0.7622	5008	,	,		14078	0.629		0.6769	False		,,,				2504	0.6922				p.P122S		Atlas-SNP	.											BCAR1_ENST00000418647,rectum,carcinoma,0,6	BCAR1	184	6	0			c.C364T						scavenged	.	G	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,,SER/PRO	1768,2620		372,1024,798	19	22	21		364,280,280,226,226,220,,226	4	0.1	16	dbSNP_86	21	5721,2867		1915,1891,488	no	missense,missense,missense,missense,missense,missense,intron,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_014567.3	74,74,74,74,74,74,,74	2287,2915,1286	AA,AG,GG		33.3838,40.2917,42.2858	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	122/917,94/889,94/889,76/889,76/871,74/869,,76/871	75276775	7489,5487	2194	4294	6488	SO:0001583	missense	9564	exon3			GGCCGGGGCCAGG	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.226C>T	16.37:g.75276775G>A	ENSP00000162330:p.Pro76Ser	Somatic	6	1	0.166667		WXS	Illumina HiSeq	Phase_I	12	9	0.75	NM_001170714	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	1313	0.6011904761904762	190	0.3861788617886179	265	0.7320441988950276	345	0.6031468531468531	513	0.6767810026385225	G	4.260	0.047302	0.08243	0.402917	0.666162	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.97	3.99	0.46301	Src homology-3 domain (1);	1.655160	0.04132	N	0.318187	T	0.00012	0.0000	L	0.36672	1.1	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B	0.13594	0.0;0.008;0.003;0.001;0.0;0.003;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.003;0.004;0.006;0.001;0.007;0.001	T	0.42682	-0.9437	9	0.17369	T	0.5	-8.8335	9.9141	0.41423	0.1013:0.0:0.8987:0.0	rs1035539;rs17855754;rs61029671	94;122;74;76;94;76;76	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	76;94;94;76;122;76;74;47	ENSP00000162330:P76S;ENSP00000377074:P94S;ENSP00000392708:P94S;ENSP00000443841:P76S;ENSP00000391669:P122S;ENSP00000377072:P76S;ENSP00000440415:P74S;ENSP00000442161:P47S	ENSP00000162330:P76S	P	-	1	0	BCAR1	73834276	0.726000	0.28059	0.109000	0.21407	0.115000	0.19883	3.618000	0.54188	1.200000	0.43188	0.655000	0.94253	CCC	G|0.447;A|0.553	0.553	strong		0.692	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		A	75276775	G	A	75276775	3	1	1	1	0	0	0	0	1	0	0	0	1348	1232	43	2	2471	2	BCAR1	16	75276775	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	6557662	75276775	15077978	235	235										
ABR	29	hgsc.bcm.edu	37	chr17	970326	970326	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gctctgctcacctccttctgGatttcactcttgagggcaga	9	13	5	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:970326G>A	ENST00000302538.5	-	10	1319	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ABR_ENST00000291107.2_Silent_p.I354I|ABR_ENST00000544583.2_Silent_p.I345I|ABR_ENST00000574437.1_Silent_p.I345I|ABR_ENST00000536794.2_Silent_p.I173I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	391	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCCTTCTGGATTTCACTCT	0.572																																					p.I391I	Esophageal Squamous(197;2016 2115 4129 29033 46447)	Atlas-SNP	.											.	ABR	119	.	0			c.C1173T						PASS	.						55	43	47					17																	970326		2203	4300	6503	SO:0001819	synonymous_variant	29	exon10			CTTCTGGATTTCA	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1173C>T	17.37:g.970326G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	76	21	0.276316	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																			.	.	none		0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			A	970326	G	A	970326	2	1	1	1	0	0	0	0	0	0	0	1	99	1164	41	2		2	ABR	17	970326	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10		970326	80224884	236	236										
SLC43A2	124935	hgsc.bcm.edu	37	chr17	1494567	1494567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggtctcaggcgggtacctgcGgcatccggctggcacttcac	14	14	2	0	rs12953268	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:1494567G>A	ENST00000301335.5	-	8	1015	c.927C>T	c.(925-927)gcC>gcT	p.A309A	SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000382147.4_Silent_p.A309A|SLC43A2_ENST00000412517.3_Silent_p.A172A|SLC43A2_ENST00000571650.1_Silent_p.A309A	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGGTACCTGCGGCATCCGGCT	0.682													G|||	1399	0.279353	0.0832	0.3127	5008	,	,		11580	0.1508		0.5388	False		,,,				2504	0.3865				p.A309A		Atlas-SNP	.											SLC43A2,NS,carcinoma,0,1	SLC43A2	37	1	0			c.C927T						scavenged	.	G		726,3680	287.2+/-279.2	55,616,1532	42	43	43		927	-5.5	0.1	17	dbSNP_121	43	4715,3885	595.2+/-393.4	1297,2121,882	no	coding-synonymous	SLC43A2	NM_152346.1		1352,2737,2414	AA,AG,GG		45.1744,16.4775,41.8345		309/570	1494567	5441,7565	2203	4300	6503	SO:0001819	synonymous_variant	124935	exon8			ACCTGCGGCATCC	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.927C>T	17.37:g.1494567G>A		Somatic	4	1	0.25		WXS	Illumina HiSeq	Phase_I	9	7	0.777778	NM_152346	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	CCDS11006.1																																																																																			A|0.422;C|0.000;G|0.578	0.422	strong		0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		A	1494567	G	A	1494567	2	1	1	1	0	0	0	0	0	0	0	1	14633	1103	39	1		1	SLC43A2	17	1494567	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	524241	1494567	79700643	237	237										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386300	7386300	+	Missense_Mutation	SNP	G	G	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggaacctcagctgtgagaggGaagggaaggtggaggagtga							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:7386300G>A	ENST00000412468.2	+	2	1112	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)											CTGTGAGAGGGAAGGGAAGGT	0.557																																					p.E333K		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,-1,1	.	.	1	0			c.G997A						scavenged	.						60	59	59					17																	7386300		2203	4300	6503	SO:0001583	missense	643664	exon2			GAGAGGGAAGGGA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.997G>A	17.37:g.7386300G>A	ENSP00000396523:p.Glu333Lys	Somatic	160	1	0.00625		WXS	Illumina HiSeq	Phase_I	111	3	0.027027	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322479	0.01320	.	.	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.69	1.44	0.22558	.	.	.	.	.	T	0.14056	0.0340	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.37526	-0.9702	9	0.02654	T	1	-0.2286	4.7772	0.13185	0.2637:0.1728:0.5636:0.0	.	333	P0C7Q6	S35G6_HUMAN	K	333	ENSP00000396523:E333K	ENSP00000396523:E333K	E	+	1	0	SLC35G6	7327024	1.000000	0.71417	0.321000	0.25320	0.451000	0.32288	4.403000	0.59729	0.499000	0.27970	-0.225000	0.12378	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386300	G	A	7386300	3	1	1	1	0	0	0	0	1	0	0	0	561	1175	41	2	1003	2	AMAC1L3	17	7386300	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	5891733	7386300	73808910	238	238	5	2								
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386301	7386301	+	Missense_Mutation	SNP	A	A	C													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaacctcagctgtgagagggAagggaaggtggaggagtgag							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:7386301A>C	ENST00000412468.2	+	2	1113	c.998A>C	c.(997-999)gAa>gCa	p.E333A	POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)		p.E333A(1)									TGTGAGAGGGAAGGGAAGGTG	0.557																																					p.E333A		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.A998C						scavenged	.						60	58	59					17																	7386301		2203	4300	6503	SO:0001583	missense	643664	exon2			AGAGGGAAGGGAA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.998A>C	17.37:g.7386301A>C	ENSP00000396523:p.Glu333Ala	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	107	3	0.0280374	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.225018	0.06022	.	.	ENSG00000181222	ENST00000412468	T	0.26067	1.76	4.69	1.0	0.19881	.	.	.	.	.	T	0.15609	0.0376	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.22626	-1.0211	9	0.36615	T	0.2	-0.2286	5.7938	0.18375	0.4278:0.471:0.1012:0.0	.	333	P0C7Q6	S35G6_HUMAN	A	333	ENSP00000396523:E333A	ENSP00000396523:E333A	E	+	2	0	SLC35G6	7327025	0.886000	0.30341	0.428000	0.26697	0.484000	0.33280	1.649000	0.37281	0.732000	0.32470	0.477000	0.44152	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386301	A	C	7386301	3	2	1	1	0	0	0	0	1	0	0	0	561	246	9	5	1004	5	AMAC1L3	17	7386301	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1	7386301	73808909	239	239	5	2								
MYH1	4619	hgsc.bcm.edu	37	chr17	10399321	10399321	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tccaggagctcctgttctgcGattttcctgctcctctctgt	8	14	2	0	rs145122906		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:10399321G>T	ENST00000226207.5	-	35	5209	c.5115C>A	c.(5113-5115)atC>atA	p.I1705I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1705					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532																																					p.I1705I		Atlas-SNP	.											MYH1,nipple,malignant_melanoma,0,1	MYH1	403	1	1	Substitution - coding silent(1)	skin(1)	c.C5115A						scavenged	.						101	92	95					17																	10399321		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon35			TTCTGCGATTTTC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5115C>A	17.37:g.10399321G>T		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	180	5	0.0277778	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			.	.	alt		0.532	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10399321	G	T	10399321	2	4	1	1	0	0	0	0	0	0	0	1	10029	1048	37	4		4	MYH1	17	10399321	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	3013020	10399321	70795889	240	240										
MYH1	4619	hgsc.bcm.edu	37	chr17	10409204	10409204	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggatgccttccagcacaccgTtacacctcagctgatgcagg	10	14	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:10409204T>G	ENST00000226207.5	-	19	2193	c.2099A>C	c.(2098-2100)aAc>aCc	p.N700T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	700	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCACACCGTTACACCTCAG	0.468																																					p.N700T		Atlas-SNP	.											MYH1,NS,carcinoma,+1,1	MYH1	403	1	0			c.A2099C						PASS	.						76	64	68					17																	10409204		2203	4298	6501	SO:0001583	missense	4619	exon19			ACACCGTTACACC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2099A>C	17.37:g.10409204T>G	ENSP00000226207:p.Asn700Thr	Somatic	490	0	0		WXS	Illumina HiSeq	Phase_I	521	88	0.168906	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381448	0.61845	.	.	ENSG00000109061	ENST00000226207	T	0.71579	-0.58	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.46442	U	0.000282	T	0.77418	0.4127	M	0.82132	2.575	0.58432	D	0.999997	P	0.38078	0.617	B	0.44085	0.44	T	0.81516	-0.0897	10	0.87932	D	0	.	15.0655	0.71992	0.0:0.0:0.0:1.0	.	700	P12882	MYH1_HUMAN	T	700	ENSP00000226207:N700T	ENSP00000226207:N700T	N	-	2	0	MYH1	10349929	1.000000	0.71417	0.896000	0.35187	0.920000	0.55202	7.698000	0.84413	2.216000	0.71823	0.528000	0.53228	AAC	.	.	none		0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		G	10409204	T	G	10409204	3	3	1	1	0	0	0	0	1	0	0	0	10029	1725	60	5	3808	5	MYH1	17	10409204	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	9883	10409204	70786006	241	241										
RICH2	9912	hgsc.bcm.edu	37	chr17	12859254	12859254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agatgactcccagtaatatgGcaattgttttaggacccaac	8	9	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:12859254G>A	ENST00000379672.5	+	14	1507	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.A403T|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.A403T	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	403	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAGTAATATGGCAATTGTTTT	0.428																																					p.A403T		Atlas-SNP	.											.	ARHGAP44	55	.	0			c.G1207A						PASS	.						72	69	70					17																	12859254		1959	4140	6099	SO:0001583	missense	9912	exon14			AATATGGCAATTG		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1207G>A	17.37:g.12859254G>A	ENSP00000368994:p.Ala403Thr	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	210	38	0.180952	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406245	0.62288	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	T;T	0.25250	1.81;1.81	5.89	5.89	0.94794	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	H	0.97564	4.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.998;0.997;0.992	T	0.79415	-0.1813	10	0.87932	D	0	.	17.7556	0.88447	0.0:0.0:1.0:0.0	.	403;48;65;403	A6NCP5;Q9Y4Q4;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	T	403;65;403	ENSP00000368994:A403T;ENSP00000342566:A403T	ENSP00000342566:A403T	A	+	1	0	ARHGAP44	12799979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.793000	0.96121	0.655000	0.94253	GCA	.	.	none		0.428	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		A	12859254	G	A	12859254	3	1	1	1	0	0	0	0	1	0	0	0	13357	1203	42	2	1261	2	RICH2	17	12859254	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2450050	12859254	68335956	242	242										
UBB	7314	hgsc.bcm.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga					rs16962973		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					p.T90T	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,2	UBB	30	2	0			c.C270T						scavenged	.						75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314	exon2			CATCACCCTGGAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		Somatic	313	2	0.00638978		WXS	Illumina HiSeq	Phase_I	388	4	0.0103093	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			C|0.996;T|0.004	0.004	strong		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285491	C	T	16285491	2	4	1	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3426237	16285491	64909719	243	243	6	2								
UBB	7314	hgsc.bcm.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					p.E92E	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,6	UBB	30	6	2	Substitution - coding silent(2)	endometrium(1)|central_nervous_system(1)	c.A276G						scavenged	.																																			SO:0001819	synonymous_variant	7314	exon2			CCTGGAAGTGGAG		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G		Somatic	332	2	0.0060241		WXS	Illumina HiSeq	Phase_I	400	12	0.03	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|1.000;|0.000	1.000	weak		0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		G	16285497	A	G	16285497	2	3	1	1	0	0	0	0	0	0	0	1	16838	69	3	3		3	UBB	17	16285497	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	6	16285497	64909713	244	244	6	2								
UBB	7314	hgsc.bcm.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000395839.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.Q107Q|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					p.Q107Q	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,NS,carcinoma,0,1	UBB	30	1	1	Substitution - coding silent(1)	lung(1)	c.G321A						scavenged	.						114	110	112					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314	exon2			GATCCAGGATAAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A		Somatic	440	3	0.00681818		WXS	Illumina HiSeq	Phase_I	492	6	0.0121951	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|0.540;A|0.460	0.460	strong		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		A	16285542	G	A	16285542	2	1	1	1	0	0	0	0	0	0	0	1	16838	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	45	16285542	64909668	245	245										
MAP2K3	5606	hgsc.bcm.edu	37	chr17	21206529	21206529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggagcatctgcacagcaagcTgtcggtgatccacagaggtc	13	11	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:21206529T>C	ENST00000342679.4	+	7	800	c.551T>C	c.(550-552)cTg>cCg	p.L184P	MAP2K3_ENST00000361818.5_Missense_Mutation_p.L155P|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L155P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGCAAGCTGTCGGTGATC	0.632																																					p.L184P		Atlas-SNP	.											.	MAP2K3	135	.	0			c.T551C						PASS	.						50	42	45					17																	21206529		2203	4300	6503	SO:0001583	missense	5606	exon7			GCAAGCTGTCGGT	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.551T>C	17.37:g.21206529T>C	ENSP00000345083:p.Leu184Pro	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	98	12	0.122449	NM_145109	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501712	0.44455	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.40756	1.02;1.02	5.45	5.45	0.79879	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	0.52532	D	0.000069	T	0.63534	0.2519	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67325	-0.5699	10	0.87932	D	0	-29.8457	15.5058	0.75739	0.0:0.0:0.0:1.0	.	184	P46734	MP2K3_HUMAN	P	184;155;155;188	ENSP00000345083:L184P;ENSP00000355081:L155P	ENSP00000319139:L188P	L	+	2	0	MAP2K3	21147122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.679000	0.84048	2.077000	0.62373	0.459000	0.35465	CTG	.	.	none		0.632	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		C	21206529	T	C	21206529	3	2	1	1	0	0	0	0	1	0	0	0	9238	1580	55	3	577	3	MAP2K3	17	21206529	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	4920987	21206529	59988681	246	246										
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21318698	21318698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cccctacagcatcgtgtcatCggaggaggacgggctgcacc	13	14	1	0	rs1657738	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:21318698C>T	ENST00000583088.1	+	3	939	c.44C>T	c.(43-45)tCg>tTg	p.S15L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S15L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	15			S -> L (in dbSNP:rs1657738).		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)	ATCGTGTCATCGGAGGAGGAC	0.711										Prostate(3;0.18)																											p.S15L		Atlas-SNP	.											KCNJ12,NS,carcinoma,0,1	.	.	1	0			c.C44T						scavenged	.																																			SO:0001583	missense	100134444	exon3			TGTCATCGGAGGA	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.44C>T	17.37:g.21318698C>T	ENSP00000463778:p.Ser15Leu	Somatic	11	1	0.0909091		WXS	Illumina HiSeq	Phase_I	6	5	0.833333	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	1092	0.5	246	0.5	181	0.5	286	0.5	379	0.5	C	16.91	3.253602	0.59212	.	.	ENSG00000184185	ENST00000331718	T	0.35605	1.3	5.33	4.37	0.52481	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.060531	0.64402	D	0.000002	T	0.00012	0.0000	L	0.55481	1.735	0.53005	D	0.999966	P	0.46578	0.88	B	0.34301	0.179	T	0.56408	-0.7984	10	0.45353	T	0.12	.	13.6407	0.62249	0.0:0.9242:0.0:0.0758	rs1657738;rs59809956	15	Q14500	IRK12_HUMAN	L	15	ENSP00000328150:S15L	ENSP00000328150:S15L	S	+	2	0	KCNJ12	21259291	1.000000	0.71417	0.117000	0.21633	0.983000	0.72400	5.954000	0.70298	1.257000	0.44085	0.591000	0.81541	TCG	C|0.500;T|0.500	0.500	strong		0.711	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21318698	C	T	21318698	3	4	1	1	0	0	0	0	1	0	0	0	8046	893	31	1	46	1	KCNJ12	17	21318698	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	112169	21318698	59876512	247	247										
NF1	4763	hgsc.bcm.edu	37	chr17	29661926	29661927	+	Frame_Shift_Ins	INS	-	-	C													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atctagttcgtttttgcaagINScataatgatgatgccaaacg					rs144808600	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:29661926_29661927insC	ENST00000358273.4	+	40	6266_6267	c.5883_5884insC	c.(5884-5886)catfs	p.H1962fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.H1941fs|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1962					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTGCAAGCATAATGATGA	0.351			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.K1961fs		Pindel,Atlas-Indel	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.5883_5884insC						PASS	.																																			SO:0001589	frameshift_variant	4763	exon40	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	.		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5884dupC	17.37:g.29661927_29661927dupC	ENSP00000351015:p.His1962fs	Somatic	125	.	.		WXS	Illumina HiSeq	Phase_I	145	24	0.166	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																			.	.	none		0.351	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29661927	-	C	29661926	7	5	1	1	0	1	1	0	0	0	0	0	10356	962	34	0	6102	0	NF1	17	29661926	Frame_Shift_Ins	INS	-	TCGA-FA-8693-01A-11D-2397-10	8343228	29661926	51533284	248	248										
UNC45B	146862	hgsc.bcm.edu	37	chr17	33497208	33497208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctggcctacctcacgctggaCgctgatgtgaaggacgactt	12	12	1	2	rs531660473		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:33497208C>T	ENST00000268876.5	+	12	1720	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000394570.2_Silent_p.D541D|UNC45B_ENST00000433649.1_Silent_p.D541D|UNC45B_ENST00000591048.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	541					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCACGCTGGACGCTGATGTGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18902	0.0		0.0	False		,,,				2504	0.0				p.D541D		Atlas-SNP	.											.	UNC45B	133	.	0			c.C1623T						PASS	.						77	62	67					17																	33497208		2203	4300	6503	SO:0001819	synonymous_variant	146862	exon12			GCTGGACGCTGAT	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1623C>T	17.37:g.33497208C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	150	23	0.153333	NM_001267052	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																			.	.	none		0.617	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33497208	C	T	33497208	2	4	1	1	0	0	0	0	0	0	0	1	16986	535	19	1		1	UNC45B	17	33497208	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3835282	33497208	47698002	249	249										
GSDMA	284110	hgsc.bcm.edu	37	chr17	38122591	38122591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agatgtggatgtaccaaagaCggtgaaggtgaagggaacgg	17	4	0	4	rs140044904	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:38122591C>T	ENST00000301659.4	+	3	411	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	98					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GTACCAAAGACGGTGAAGGTG	0.552													C|||	33	0.00658946	0.0242	0.0014	5008	,	,		18543	0.0		0.0	False		,,,				2504	0.0				p.T98M		Atlas-SNP	.											.	GSDMA	26	.	0			c.C293T						PASS	.	C	MET/THR	42,3964		0,42,1961	107	111	110		293	5.5	1	17	dbSNP_134	110	0,8332		0,0,4166	yes	missense	GSDMA	NM_178171.4	81	0,42,6127	TT,TC,CC		0.0,1.0484,0.3404	benign	98/446	38122591	42,12296	2003	4166	6169	SO:0001583	missense	284110	exon3			CAAAGACGGTGAA	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.293C>T	17.37:g.38122591C>T	ENSP00000301659:p.Thr98Met	Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	278	54	0.194245	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	20	0.009157509157509158	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	0	0.0	C	11.66	1.704373	0.30232	0.010484	0.0	ENSG00000167914	ENST00000301659	T	0.23147	1.92	5.5	5.5	0.81552	.	0.442749	0.21282	N	0.077127	T	0.04318	0.0119	L	0.36672	1.1	0.35397	D	0.791245	P	0.39404	0.672	B	0.27887	0.084	T	0.14531	-1.0469	10	0.48119	T	0.1	-0.926	14.8824	0.70542	0.0:1.0:0.0:0.0	.	98	Q96QA5	GSDMA_HUMAN	M	98	ENSP00000301659:T98M	ENSP00000301659:T98M	T	+	2	0	GSDMA	35376117	0.987000	0.35691	0.972000	0.41901	0.744000	0.42396	3.521000	0.53472	2.581000	0.87130	0.563000	0.77884	ACG	C|0.991;T|0.009	0.009	strong		0.552	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38122591	C	T	38122591	3	4	1	1	0	0	0	0	1	0	0	0	6816	536	19	1	299	1	GSDMA	17	38122591	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	4625383	38122591	43072619	250	250										
CDC27	996	hgsc.bcm.edu	37	chr17	45214528	45214528	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	taccacttaccatgcattatAatgtctaggattgactctga	6	9	2	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:45214528A>T	ENST00000066544.3	-	14	1996	c.1903T>A	c.(1903-1905)Tat>Aat	p.Y635N	CDC27_ENST00000531206.1_Missense_Mutation_p.Y641N|CDC27_ENST00000446365.2_Missense_Mutation_p.Y574N|CDC27_ENST00000527547.1_Missense_Mutation_p.Y634N	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	635					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CATGCATTATAATGTCTAGGA	0.338																																					p.Y641N		Atlas-SNP	.											CDC27_ENST00000531206,colon,carcinoma,0,2	CDC27	337	2	0			c.T1921A						scavenged	.						36	36	36					17																	45214528		2203	4300	6503	SO:0001583	missense	996	exon14			CATTATAATGTCT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1903T>A	17.37:g.45214528A>T	ENSP00000066544:p.Tyr635Asn	Somatic	44	3	0.0681818		WXS	Illumina HiSeq	Phase_I	54	4	0.0740741	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	32	5.126360	0.94429	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.995;0.996	D	0.89008	0.3426	10	0.87932	D	0	-24.5847	14.4087	0.67101	1.0:0.0:0.0:0.0	.	574;634;641;635	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	N	635;641;574;634	ENSP00000066544:Y635N;ENSP00000434614:Y641N;ENSP00000392802:Y574N;ENSP00000437339:Y634N	ENSP00000066544:Y635N	Y	-	1	0	CDC27	42569527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.293000	0.77203	0.477000	0.44152	TAT	.	.	none		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45214528	A	T	45214528	3	4	1	1	0	0	0	0	1	0	0	0	3066	362	13	5	595	5	CDC27	17	45214528	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	7091937	45214528	35980682	251	251										
SFRS1	6426	hgsc.bcm.edu	37	chr17	56083867	56083867	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	taatcatagccgtcgcgaccAtacaccgcgtcttccgcgtc	8	16	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:56083867A>C	ENST00000258962.4	-	2	424	c.216T>G	c.(214-216)taT>taG	p.Y72*	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Nonsense_Mutation_p.Y72*|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Nonsense_Mutation_p.Y72*	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCGCGACCATACACCGCGT	0.627																																					p.Y72X		Atlas-SNP	.											.	SRSF1	41	.	0			c.T216G						PASS	.						28	25	26					17																	56083867		2202	4288	6490	SO:0001587	stop_gained	6426	exon2			GCGACCATACACC		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.216T>G	17.37:g.56083867A>C	ENSP00000258962:p.Tyr72*	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	174	42	0.241379	NM_006924	B2R6Z7|D3DTZ3|Q13809	Nonsense_Mutation	SNP	ENST00000258962.4	37	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381974	0.82792	.	.	ENSG00000136450	ENST00000258962	.	.	.	5.96	-3.56	0.04626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7599	0.62959	0.5977:0.0:0.4023:0.0	.	.	.	.	X	72	.	ENSP00000258962:Y72X	Y	-	3	2	SRSF1	53438866	0.877000	0.30153	0.866000	0.34008	0.984000	0.73092	0.001000	0.13038	-0.941000	0.03700	-0.899000	0.02877	TAT	.	.	none		0.627	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		C	56083867	A	C	56083867	4	2	1	1	0	0	0	0	0	1	0	0	14165	224	8	5	596	5	SFRS1	17	56083867	Nonsense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	10869339	56083867	25111343	252	252										
DDX42	11325	hgsc.bcm.edu	37	chr17	61895140	61895140	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggggcaagtgggtggactagTgcagggagcttgaattctgt	18	5	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:61895140T>C	ENST00000578681.1	+	19	2800	c.2199T>C	c.(2197-2199)agT>agC	p.S733S	DDX42_ENST00000389924.2_Silent_p.S733S|DDX42_ENST00000583590.1_Silent_p.S733S|DDX42_ENST00000359353.5_Silent_p.S614S|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000457800.2_Silent_p.S733S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	733					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GGTGGACTAGTGCAGGGAGCT	0.517																																					p.S733S		Atlas-SNP	.											.	DDX42	86	.	0			c.T2199C						PASS	.						105	98	100					17																	61895140		2203	4300	6503	SO:0001819	synonymous_variant	11325	exon18			GACTAGTGCAGGG	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2199T>C	17.37:g.61895140T>C		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	215	44	0.204651	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	CCDS32704.1																																																																																			.	.	none		0.517	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		C	61895140	T	C	61895140	2	2	1	1	0	0	0	0	0	0	0	1	4362	1693	59	2		2	DDX42	17	61895140	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	5811273	61895140	19300070	253	253										
CSHL1	1444	hgsc.bcm.edu	37	chr17	61987570	61987570	+	Missense_Mutation	SNP	G	G	T													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aggtcctttaggaggtgataGtcatcgctgtccgaggtgtc					rs2727307	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:61987570G>T	ENST00000309894.5	-	4	422	c.423C>A	c.(421-423)gaC>gaA	p.D141E	CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.D58E|CSHL1_ENST00000259003.10_Missense_Mutation_p.D79E|CSHL1_ENST00000346606.6_Missense_Mutation_p.D47E|CSHL1_ENST00000438387.2_Missense_Mutation_p.D58E|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Missense_Mutation_p.D47E	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141			D -> E (in dbSNP:rs2727307). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGAGGTGATAGTCATCGCTGT	0.592													G|||	1392	0.277955	0.059	0.3256	5008	,	,		19686	0.4196		0.4185	False		,,,				2504	0.2495				p.D141E		Atlas-SNP	.											CSHL1_ENST00000561003,bladder,carcinoma,-2,4	CSHL1	42	4	0			c.C423A						scavenged	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	555,3851	249.3+/-256.8	32,491,1680	90	78	82		141,423,174,354	3.1	0.2	17	dbSNP_100	82	3562,5038	516.7+/-378.9	747,2068,1485	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	45,45,45,45	779,2559,3165	TT,TG,GG		41.4186,12.5965,31.6546	benign,benign,benign,benign	47/129,141/223,58/140,118/200	61987570	4117,8889	2203	4300	6503	SO:0001583	missense	1444	exon4			GTGATAGTCATCG	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.423C>A	17.37:g.61987570G>T	ENSP00000309524:p.Asp141Glu	Somatic	696	4	0.00574713		WXS	Illumina HiSeq	Phase_I	684	10	0.0146199	NM_022579	D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	CCDS11652.1	708	0.3241758241758242	38	0.07723577235772358	135	0.3729281767955801	217	0.3793706293706294	318	0.41952506596306066	g	8.404	0.842563	0.16963	0.125965	0.414186	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90261	-2.64;-2.64;-2.64	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.304551	0.31145	N	0.008174	T	0.00012	0.0000	L	0.29908	0.895	0.09310	P	0.99999999455923	B;B;B;B	0.32893	0.007;0.337;0.389;0.337	B;B;B;B	0.38156	0.007;0.173;0.266;0.253	T	0.08411	-1.0723	9	0.87932	D	0	.	8.2735	0.31857	0.0:0.2465:0.7534:0.0	rs2727307;rs57082825	47;58;141;118	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	E	141;58;136;47;136	ENSP00000309524:D141E;ENSP00000402632:D58E;ENSP00000316360:D47E	ENSP00000259003:D136E	D	-	3	2	GH1	59341302	1.000000	0.71417	0.247000	0.24249	0.002000	0.02628	1.431000	0.34925	1.730000	0.51580	0.305000	0.20034	GAC	G|0.670;T|0.330	0.330	strong		0.592	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		T	61987570	G	T	61987570	3	4	1	1	0	0	0	0	1	0	0	0	3942	1020	36	4	253	4	CSHL1	17	61987570	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	92430	61987570	19207640	254	254	7	2								
CSHL1	1444	hgsc.bcm.edu	37	chr17	61987576	61987576	+	Silent	SNP	G	G	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tttaggaggtgatagtcatcGctgtccgaggtgtcatacac					rs2246207	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:61987576G>A	ENST00000309894.5	-	4	416	c.417C>T	c.(415-417)agC>agT	p.S139S	CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Silent_p.S56S|CSHL1_ENST00000259003.10_Silent_p.S77S|CSHL1_ENST00000346606.6_Silent_p.S45S|CSHL1_ENST00000438387.2_Silent_p.S56S|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Silent_p.S45S	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	139						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GATAGTCATCGCTGTCCGAGG	0.587													G|||	1952	0.389776	0.4637	0.3501	5008	,	,		19398	0.4196		0.4225	False		,,,				2504	0.2536				p.S139S		Atlas-SNP	.											CSHL1_ENST00000561003,NS,adenoma,0,2	CSHL1	42	2	0			c.C417T						scavenged	.	G	,,,	2165,2241	583.4+/-385.8	538,1089,576	88	76	80		135,417,168,348	-4.3	0	17	dbSNP_100	80	3571,5029	517.8+/-379.1	751,2069,1480	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	,,,	1289,3158,2056	AA,AG,GG		41.5233,49.1375,44.1027	,,,	45/129,139/223,56/140,116/200	61987576	5736,7270	2203	4300	6503	SO:0001819	synonymous_variant	1444	exon4			GTCATCGCTGTCC	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.417C>T	17.37:g.61987576G>A		Somatic	687	6	0.00873362		WXS	Illumina HiSeq	Phase_I	658	8	0.0121581	NM_022579	D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	CCDS11652.1																																																																																			G|0.566;A|0.434	0.434	strong		0.587	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		A	61987576	G	A	61987576	2	1	1	1	0	0	0	0	0	0	0	1	3942	1078	38	1		1	CSHL1	17	61987576	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	6	61987576	19207634	255	255	7	2								
CD300LB	124599	hgsc.bcm.edu	37	chr17	72522004	72522004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	catggtcacagtgaacgtgcGgtctttctgattgtccttga	11	9	3	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:72522004G>A	ENST00000392621.1	-	2	368	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CD300LB_ENST00000314401.3_Missense_Mutation_p.R122C	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	85					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTGAACGTGCGGTCTTTCTGA	0.527																																					p.R122C		Atlas-SNP	.											CD300LB,lower_third,carcinoma,0,1	CD300LB	38	1	0			c.C364T						PASS	.						256	225	235					17																	72522004		2203	4300	6503	SO:0001583	missense	124599	exon2			ACGTGCGGTCTTT	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.364C>T	17.37:g.72522004G>A	ENSP00000376397:p.Arg122Cys	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	280	64	0.228571	NM_174892	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.311	0.425440	0.11987	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04502	3.61	5.17	2.03	0.26663	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.216860	0.05978	N	0.643733	T	0.07324	0.0185	M	0.73319	2.225	0.09310	N	1	B;P	0.35242	0.077;0.492	B;B	0.23716	0.019;0.048	T	0.40961	-0.9535	10	0.38643	T	0.18	-16.1436	8.9441	0.35747	0.1487:0.0:0.7281:0.1232	.	122;85	B4DQ71;A8K4G0	.;CLM7_HUMAN	C	85;122	ENSP00000317337:R122C	ENSP00000317337:R122C	R	-	1	0	CD300LB	70033599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.013000	0.13310	0.022000	0.15160	-1.119000	0.02030	CGC	.	.	none		0.527	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		A	72522004	G	A	72522004	3	1	1	1	0	0	0	0	1	0	0	0	2999	1116	39	1	364	1	CD300LB	17	72522004	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	10534428	72522004	8673206	256	256										
SOCS3	9021	hgsc.bcm.edu	37	chr17	76354959	76354959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaagtggcgctggtccgagCtgtcgcggatcagaaaggtg	17	8	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr17:76354959C>T	ENST00000330871.2	-	2	633	c.218G>A	c.(217-219)aGc>aAc	p.S73N	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	73	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CTGGTCCGAGCTGTCGCGGAT	0.647																																					p.S73N		Atlas-SNP	.											.	SOCS3	16	.	0			c.G218A						PASS	.						31	28	29					17																	76354959		2203	4300	6503	SO:0001583	missense	9021	exon2			TCCGAGCTGTCGC	AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.218G>A	17.37:g.76354959C>T	ENSP00000330341:p.Ser73Asn	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	84	20	0.238095	NM_003955	O14509	Missense_Mutation	SNP	ENST00000330871.2	37	CCDS11756.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046512	0.75846	.	.	ENSG00000184557	ENST00000330871	D	0.95069	-3.6	4.13	4.13	0.48395	SH2 motif (4);	0.200591	0.51477	D	0.000091	D	0.98140	0.9386	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99847	1.1067	10	0.87932	D	0	-16.133	16.3864	0.83505	0.0:1.0:0.0:0.0	.	73	O14543	SOCS3_HUMAN	N	73	ENSP00000330341:S73N	ENSP00000330341:S73N	S	-	2	0	SOCS3	73866554	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	3.837000	0.55820	1.845000	0.53610	0.313000	0.20887	AGC	.	.	none		0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			T	76354959	C	T	76354959	3	4	1	1	0	0	0	0	1	0	0	0	14915	797	28	2	463	2	SOCS3	17	76354959	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3832955	76354959	4840251	257	257										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6978290	6978290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgttcagcagctcctggctcAgccccgccacgtccctcagc	9	19	3	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr18:6978290A>G	ENST00000389658.3	-	43	6188	c.6095T>C	c.(6094-6096)cTg>cCg	p.L2032P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2032	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCCTGGCTCAGCCCCGCCAC	0.562																																					p.L2032P		Atlas-SNP	.											LAMA1,colon,carcinoma,+1,1	LAMA1	458	1	0			c.T6095C						scavenged	.						136	119	125					18																	6978290		2203	4300	6503	SO:0001583	missense	284217	exon43			TGGCTCAGCCCCG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6095T>C	18.37:g.6978290A>G	ENSP00000374309:p.Leu2032Pro	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	255	3	0.0117647	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803406	0.31869	.	.	ENSG00000101680	ENST00000389658	T	0.55760	0.5	5.4	2.94	0.34122	Laminin II (1);	0.402501	0.24285	N	0.039866	T	0.65428	0.2690	L	0.59436	1.845	0.52099	D	0.999941	D	0.63046	0.992	D	0.65573	0.936	T	0.65730	-0.6097	10	0.66056	D	0.02	.	12.538	0.56152	0.7364:0.2636:0.0:0.0	.	2032	P25391	LAMA1_HUMAN	P	2032	ENSP00000374309:L2032P	ENSP00000374309:L2032P	L	-	2	0	LAMA1	6968290	0.931000	0.31567	0.165000	0.22776	0.002000	0.02628	3.526000	0.53509	0.420000	0.25954	-0.323000	0.08544	CTG	.	.	none		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	6978290	A	G	6978290	3	3	1	1	0	0	0	0	1	0	0	0	8605	188	7	3	3216	3	LAMA1	18	6978290	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10		6978290	71098958	258	258										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9887149	9887149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agcccaagctgggcaatattGccaagacctcagtgaagccc	10	13	1	2	rs11662946	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr18:9887149G>C	ENST00000306084.6	+	2	872	c.673G>C	c.(673-675)Gcc>Ccc	p.A225P	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.A158P	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	225	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A -> P (in dbSNP:rs11662946).		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGCAATATTGCCAAGACCTC	0.572													g|||	327	0.0652955	0.0477	0.0591	5008	,	,		22613	0.0228		0.0716	False		,,,				2504	0.1309				p.A225P		Atlas-SNP	.											TXNDC2_ENST00000306084,colon,carcinoma,-1,2	TXNDC2	168	2	0			c.G673C						scavenged	.	G	PRO/ALA,PRO/ALA	218,4188	131.8+/-168.3	4,210,1989	130	132	131		673,472	-2.8	0	18	dbSNP_120	131	668,7932	167.1+/-218.9	29,610,3661	no	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	27,27	33,820,5650	CC,CG,GG		7.7674,4.9478,6.8122	benign,benign	225/554,158/487	9887149	886,12120	2203	4300	6503	SO:0001583	missense	84203	exon2			AATATTGCCAAGA	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.673G>C	18.37:g.9887149G>C	ENSP00000304908:p.Ala225Pro	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	145	8	0.0551724	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	105	0.04807692307692308	14	0.028455284552845527	20	0.055248618784530384	16	0.027972027972027972	55	0.07255936675461741	g	0.015	-1.566545	0.00903	0.049478	0.077674	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.11604	2.76;2.76	3.14	-2.78	0.05859	.	2.212560	0.02264	N	0.067858	T	0.00144	0.0004	N	0.00377	-1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	9	.	.	.	.	2.2647	0.04076	0.1466:0.2121:0.4354:0.2058	rs11662946;rs11662946	225	Q86VQ3	TXND2_HUMAN	P	158;225;225	ENSP00000350419:A158P;ENSP00000304908:A225P	.	A	+	1	0	TXNDC2	9877149	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.313000	0.08103	-0.458000	0.07023	-0.266000	0.10368	GCC	G|0.937;C|0.063	0.063	strong		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			C	9887149	G	C	9887149	3	2	1	1	0	0	0	0	1	0	0	0	16794	1319	46	4	679	4	TXNDC2	18	9887149	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2908859	9887149	68190099	259	259										
CHST9	83539	hgsc.bcm.edu	37	chr18	24496569	24496569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agtggataaactctttgaacTtgactccagatccattaatt	6	8	1	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr18:24496569T>C	ENST00000284224.8	-	6	1263	c.986A>G	c.(985-987)aAg>aGg	p.K329R	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K329R|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	329					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTCTTTGAACTTGACTCCAGA	0.418																																					p.K329R		Atlas-SNP	.											CHST9_ENST00000284224,NS,carcinoma,0,2	CHST9	114	2	0			c.A986G						scavenged	.						142	137	138					18																	24496569		1904	4110	6014	SO:0001583	missense	83539	exon6			TTGAACTTGACTC	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.986A>G	18.37:g.24496569T>C	ENSP00000284224:p.Lys329Arg	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	209	47	0.22488	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	1.905	-0.452082	0.04540	.	.	ENSG00000154080	ENST00000284224	T	0.73258	-0.73	6.17	2.49	0.30216	.	0.214382	0.41938	N	0.000787	T	0.49321	0.1550	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.30119	-0.9989	10	0.07813	T	0.8	-12.2193	13.2521	0.60057	0.0:0.1491:0.0:0.8509	.	329	Q7L1S5	CHST9_HUMAN	R	329	ENSP00000284224:K329R	ENSP00000284224:K329R	K	-	2	0	CHST9	22750567	0.999000	0.42202	0.993000	0.49108	0.700000	0.40528	1.620000	0.36976	-0.021000	0.14009	-1.715000	0.00711	AAG	.	.	none		0.418	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		C	24496569	T	C	24496569	3	2	1	1	0	0	0	0	1	0	0	0	3411	1609	56	3	349	3	CHST9	18	24496569	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	14609420	24496569	53580679	260	260										
TCEB3CL	100506888	hgsc.bcm.edu	37	chr18	44543098	44543099	+	Frame_Shift_Ins	INS	-	-	GC													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggtcactactcgcagccgctINSgctctcgggcgtcccgaagc					rs373334809		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr18:44543098_44543099insGC	ENST00000591973.2	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	425	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGCAGCCGCTGCTCTCGGGCG	0.554																																					p.Q425fs		Pindel	.											.	.	.	.	0			c.1274_1275insGC						PASS	.																																			SO:0001589	frameshift_variant	100506888	exon1			.		CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1272_1273dupGC	18.37:g.44543099_44543100dupGC	ENSP00000468046:p.Gln425fs	Somatic	623	.	.		WXS	Illumina HiSeq	Phase_I	621	95	0.153	NM_001242907		Frame_Shift_Ins	INS	ENST00000591973.2	37	CCDS59316.1																																																																																			.	.	weak		0.554	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451070.1	XM_929328		GC	44543099	-	GC	44543098	7	5	1	1	0	1	1	0	0	0	0	0	15681	1580	55	0	368	0	TCEB3CL	18	44543098	Frame_Shift_Ins	INS	-	TCGA-FA-8693-01A-11D-2397-10	20046529	44543098	33534150	261	261										
CDH20	28316	hgsc.bcm.edu	37	chr18	59195219	59195219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcccctgagttttgaaagcaAgaaaagctacaccttaaagg	9	9	0	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr18:59195219A>G	ENST00000262717.4	+	7	1435	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	CDH20_ENST00000536675.2_Missense_Mutation_p.K346R|CDH20_ENST00000538374.1_Missense_Mutation_p.K346R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTGAAAGCAAGAAAAGCTAC	0.438																																					p.K346R		Atlas-SNP	.											.	CDH20	117	.	0			c.A1037G						PASS	.						73	69	70					18																	59195219		2203	4300	6503	SO:0001583	missense	28316	exon6			AAAGCAAGAAAAG	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1037A>G	18.37:g.59195219A>G	ENSP00000262717:p.Lys346Arg	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	179	28	0.156425	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104904	0.77096	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.49720	0.77;0.77;0.77	5.92	5.92	0.95590	Cadherin (5);Cadherin-like (1);	0.190290	0.53938	D	0.000052	T	0.54919	0.1888	L	0.45422	1.42	0.58432	D	0.999996	P	0.40476	0.718	P	0.51415	0.669	T	0.49952	-0.8884	10	0.35671	T	0.21	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	346	Q9HBT6	CAD20_HUMAN	R	346	ENSP00000444767:K346R;ENSP00000442226:K346R;ENSP00000262717:K346R	ENSP00000262717:K346R	K	+	2	0	CDH20	57346199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.255000	0.74692	0.533000	0.62120	AAG	.	.	none		0.438	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		G	59195219	A	G	59195219	3	3	1	1	0	0	0	0	1	0	0	0	3106	72	3	3	1059	3	CDH20	18	59195219	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	14652121	59195219	18882029	262	262										
WDR18	57418	hgsc.bcm.edu	37	chr19	984533	984533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcggcgcagctgggcaagaaTtacatcagcgcctgggagct	15	11	1	1	rs2301810	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:984533T>C	ENST00000251289.5	+	1	203	c.180T>C	c.(178-180)aaT>aaC	p.N60N	WDR18_ENST00000591997.1_Intron|WDR18_ENST00000587001.2_Silent_p.N60N	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	60					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TGGGCAAGAATTACATCAGCG	0.711													.|||	2246	0.448482	0.4667	0.438	5008	,	,		11366	0.3899		0.5577	False		,,,				2504	0.3793				p.N60N		Atlas-SNP	.											.	WDR18	20	.	0			c.T180C						PASS	.	C		1857,2351		456,945,703	7	9	9		180	3.3	1	19	dbSNP_100	9	4066,4176		1101,1864,1156	no	coding-synonymous	WDR18	NM_024100.3		1557,2809,1859	CC,CT,TT		49.3327,44.1302,47.5743		60/433	984533	5923,6527	2104	4121	6225	SO:0001819	synonymous_variant	57418	exon1			CAAGAATTACATC		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.180T>C	19.37:g.984533T>C		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_024100	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																			T|0.552;C|0.448	0.448	strong		0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			C	984533	T	C	984533	2	2	1	1	0	0	0	0	0	0	0	1	17275	1490	52	2		2	WDR18	19	984533	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10		984533	58144450	263	263										
ARHGEF18	23370	hgsc.bcm.edu	37	chr19	7533850	7533850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggacagcgcccccaccgagaAccggctggccaagagcgatg	14	15	0	2	rs9329368	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:7533850A>G	ENST00000359920.6	+	17	3309	c.3056A>G	c.(3055-3057)aAc>aGc	p.N1019S	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.N861S|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.T977A	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1019			N -> S (in dbSNP:rs9329368). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9628581}.		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 cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCACCGAGAACCGGCTGGCC	0.706													G|||	4178	0.834265	0.9523	0.7608	5008	,	,		14876	0.8433		0.7445	False		,,,				2504	0.8098				p.N1019S		Atlas-SNP	.											ARHGEF18_ENST00000359920,NS,carcinoma,0,2	ARHGEF18	129	2	0			c.A3056G						scavenged	.	G	SER/ASN,SER/ASN	4023,309		1872,279,15	15	14	15		3056,2582	3.2	0.4	19	dbSNP_119	15	6415,2105		2417,1581,262	yes	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	46,46	4289,1860,277	GG,GA,AA		24.7066,7.133,18.7831	benign,benign	1019/1174,861/1016	7533850	10438,2414	2166	4260	6426	SO:0001583	missense	23370	exon17			CCGAGAACCGGCT	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3056A>G	19.37:g.7533850A>G	ENSP00000352995:p.Asn1019Ser	Somatic	3	1	0.333333		WXS	Illumina HiSeq	Phase_I	4	2	0.5	NM_001130955	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	1777	0.8136446886446886	468	0.9512195121951219	261	0.7209944751381215	485	0.8479020979020979	563	0.7427440633245382	G	0.013	-1.634801	0.00806	0.92867	0.752934	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.27890	1.66;1.64	4.24	3.16	0.36331	.	0.960980	0.08586	N	0.923776	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30765	-0.9967	9	0.07325	T	0.83	-3.5407	3.0267	0.06094	0.1009:0.1765:0.5409:0.1816	rs9329368	861;1019	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	S	861;1019	ENSP00000319200:N861S;ENSP00000352995:N1019S	ENSP00000319200:N861S	N	+	2	0	ARHGEF18	7439850	0.159000	0.22864	0.394000	0.26270	0.182000	0.23217	0.158000	0.16422	0.252000	0.21531	-0.213000	0.12676	AAC	A|0.184;G|0.816	0.816	strong		0.706	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		G	7533850	A	G	7533850	3	3	1	1	0	0	0	0	1	0	0	0	901	43	2	2	3122	2	ARHGEF18	19	7533850	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	6549317	7533850	51595133	264	264										
ADAMTS10	81794	hgsc.bcm.edu	37	chr19	8651562	8651562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cggtggggctggggggtcccAggcagcccctccagcagcag	18	14	0	0	rs4476282	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:8651562A>G	ENST00000597188.1	-	20	2553	c.2283T>C	c.(2281-2283)ccT>ccC	p.P761P	ADAMTS10_ENST00000270328.4_Silent_p.P761P|ADAMTS10_ENST00000595838.1_Silent_p.P248P	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	761	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGGGGTCCCAGGCAGCCCCT	0.642											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	925	0.184704	0.2322	0.2061	5008	,	,		14798	0.125		0.2097	False		,,,				2504	0.1411				p.P761P		Atlas-SNP	.											ADAMTS10,NS,carcinoma,0,2	ADAMTS10	132	2	0			c.T2283C						PASS	.	G		962,3444	699.5+/-406.5	101,760,1342	45	53	51		2283	-9.9	0.5	19	dbSNP_111	51	1864,6736	706.5+/-405.5	201,1462,2637	no	coding-synonymous	ADAMTS10	NM_030957.2		302,2222,3979	GG,GA,AA		21.6744,21.8339,21.7284		761/1104	8651562	2826,10180	2203	4300	6503	SO:0001819	synonymous_variant	81794	exon20			GGTCCCAGGCAGC	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2283T>C	19.37:g.8651562A>G		Somatic	66	0	0	81	WXS	Illumina HiSeq	Phase_I	73	5	0.0684932	NM_030957	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1																																																																																			A|0.790;G|0.210	0.210	strong		0.642	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		G	8651562	A	G	8651562	2	3	1	1	0	0	0	0	0	0	0	1	256	175	7	3		3	ADAMTS10	19	8651562	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1117712	8651562	50477421	265	265										
KEAP1	9817	hgsc.bcm.edu	37	chr19	10600442	10600442	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aagccccccacggcataaagGagacgattgaggacagccac	11	13	0	2	rs1048290	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:10600442G>C	ENST00000171111.5	-	4	1960	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.L471L|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	471					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.L471L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGGCATAAAGGAGACGATTGA	0.562													C|||	2545	0.508187	0.7534	0.2983	5008	,	,		14922	0.5337		0.3549	False		,,,				2504	0.4571				p.L471L		Atlas-SNP	.											KEAP1,NS,carcinoma,0,1	KEAP1	182	1	1	Substitution - coding silent(1)	stomach(1)	c.C1413G						scavenged	.	C	,	3017,1389	455.9+/-351.1	1037,943,223	77	63	68		1413,1413	0.6	1	19	dbSNP_86	68	3200,5400	653.2+/-401.0	612,1976,1712	no	coding-synonymous,coding-synonymous	KEAP1	NM_012289.3,NM_203500.1	,	1649,2919,1935	CC,CG,GG		37.2093,31.5252,47.801	,	471/625,471/625	10600442	6217,6789	2203	4300	6503	SO:0001819	synonymous_variant	9817	exon4			ATAAAGGAGACGA	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1413C>G	19.37:g.10600442G>C		Somatic	217	1	0.00460829		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																			G|0.511;C|0.489	0.489	strong		0.562	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		C	10600442	G	C	10600442	2	2	1	1	0	0	0	0	0	0	0	1	8141	1161	41	4		4	KEAP1	19	10600442	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1948880	10600442	48528541	266	266										
MAN2B1	4125	hgsc.bcm.edu	37	chr19	12772090	12772090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgacctgcgcatttaccagcCggatgagcttgtcaaggttc	11	11	1	2	rs1133330	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:12772090C>T	ENST00000456935.2	-	7	1050	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R337Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	337			R -> Q (in dbSNP:rs1133330). {ECO:0000269|PubMed:22161967, ECO:0000269|PubMed:9915946}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTACCAGCCGGATGAGCTT	0.552													C|||	1244	0.248403	0.3086	0.255	5008	,	,		20976	0.0615		0.3926	False		,,,				2504	0.2065				p.R337Q		Atlas-SNP	.											MAN2B1,NS,meningioma,0,1	MAN2B1	91	1	0			c.G1010A						scavenged	.	C	GLN/ARG,GLN/ARG	1379,3027	455.9+/-351.1	215,949,1039	221	174	190		1010,1010	-5.3	0.3	19	dbSNP_86	190	3431,5169	504.3+/-376.1	668,2095,1537	yes	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	43,43	883,3044,2576	TT,TC,CC		39.8953,31.2982,36.9829	benign,benign	337/1012,337/1011	12772090	4810,8196	2203	4300	6503	SO:0001583	missense	4125	exon7			ACCAGCCGGATGA		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1010G>A	19.37:g.12772090C>T	ENSP00000395473:p.Arg337Gln	Somatic	285	1	0.00350877		WXS	Illumina HiSeq	Phase_I	345	5	0.0144928	NM_001173498	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	566	0.2591575091575092	140	0.2845528455284553	106	0.292817679558011	30	0.05244755244755245	290	0.38258575197889183	C	12.08	1.830324	0.32329	0.312982	0.398953	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.79454	-1.27;-1.27	5.51	-5.32	0.02722	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	1.735930	0.03031	N	0.152116	T	0.00012	0.0000	N	0.05510	-0.035	0.46849	P	7.770000000000277E-4	B;B	0.20550	0.022;0.046	B;B	0.15052	0.007;0.012	T	0.03840	-1.0999	9	0.29301	T	0.29	-13.1141	13.4528	0.61180	0.0:0.3494:0.0:0.6506	rs1133330;rs2070087;rs3195023;rs17421598;rs56909861;rs1133330	337;337	G5E928;O00754	.;MA2B1_HUMAN	Q	337;276;337	ENSP00000395473:R337Q;ENSP00000221363:R337Q	ENSP00000221363:R337Q	R	-	2	0	MAN2B1	12633090	0.013000	0.17824	0.311000	0.25182	0.842000	0.47809	-0.041000	0.12084	-0.929000	0.03757	-0.291000	0.09656	CGG	C|0.675;T|0.325	0.325	strong		0.552	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			T	12772090	C	T	12772090	3	4	1	1	0	0	0	0	1	0	0	0	9216	652	23	1	2097	1	MAN2B1	19	12772090	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	2171648	12772090	46356893	267	267										
DNAJB1	3337	hgsc.bcm.edu	37	chr19	14627500	14627500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atgctctttccgtcggggttTagccgcttgtgggagatttt	13	8	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:14627500T>C	ENST00000254322.2	-	2	640	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_ENST00000396969.4_Silent_p.L90L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	190					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.L190L(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483																																					p.L190L		Atlas-SNP	.											DNAJB1,NS,carcinoma,0,1	DNAJB1	38	1	1	Substitution - coding silent(1)	prostate(1)	c.A570G						scavenged	.						168	167	168					19																	14627500		2203	4300	6503	SO:0001819	synonymous_variant	3337	exon2			GGGGTTTAGCCGC	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.570A>G	19.37:g.14627500T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	165	3	0.0181818	NM_006145	B4DX52	Silent	SNP	ENST00000254322.2	37	CCDS12312.1																																																																																			.	.	none		0.483	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		C	14627500	T	C	14627500	2	2	1	1	0	0	0	0	0	0	0	1	4615	1741	61	2		2	DNAJB1	19	14627500	Silent	SNP	T	TCGA-FA-8693-01A-11D-2397-10	1855410	14627500	44501483	268	268										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17316782	17316782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	actgcagggcgagccaggcgTtgagcctggccacttcggcg	16	13	0	1	rs7248508	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:17316782T>C	ENST00000594824.1	+	32	5225	c.5078T>C	c.(5077-5079)gTt>gCt	p.V1693A	MYO9B_ENST00000595618.1_Missense_Mutation_p.V1693A|MYO9B_ENST00000397274.2_Missense_Mutation_p.V1693A|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1693	Tail.			V -> A (in Ref. 1; AAC50402). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGCCAGGCGTTGAGCCTGGC	0.667													C|||	3163	0.631589	0.708	0.6772	5008	,	,		12871	0.746		0.3917	False		,,,				2504	0.6247				p.V1693A		Atlas-SNP	.											MYO9B_ENST00000319396,NS,carcinoma,0,2	MYO9B	264	2	0			c.T5078C						scavenged	.	C	ALA/VAL,ALA/VAL	2660,1460		885,890,285	21	27	25		5078,5078	4.7	0	19	dbSNP_116	25	3346,5022		710,1926,1548	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	64,64	1595,2816,1833	CC,CT,TT		39.9857,35.4369,48.0942	benign,benign	1693/2023,1693/2158	17316782	6006,6482	2060	4184	6244	SO:0001583	missense	4650	exon32			CAGGCGTTGAGCC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5078T>C	19.37:g.17316782T>C	ENSP00000471367:p.Val1693Ala	Somatic	6	1	0.166667		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		1311	0.6002747252747253	331	0.6727642276422764	232	0.6408839779005525	445	0.777972027972028	303	0.3997361477572559	C	2.673	-0.277158	0.05679	0.645631	0.399857	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.84442	-1.85	4.74	4.74	0.60224	.	0.234317	0.29676	N	0.011484	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41142	-0.9525	9	0.05959	T	0.93	.	10.8777	0.46921	0.0:0.9112:0.0:0.0888	rs7248508;rs11545735;rs7248508	1693;1693;1699	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	A	1693;38	ENSP00000380444:V1693A	ENSP00000314032:V38A	V	+	2	0	MYO9B	17177782	0.001000	0.12720	0.039000	0.18376	0.005000	0.04900	1.204000	0.32296	1.136000	0.42199	-0.215000	0.12644	GTT	T|0.406;C|0.594	0.594	strong		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			C	17316782	T	C	17316782	3	2	1	1	0	0	0	0	1	0	0	0	10085	1725	60	2	5200	2	MYO9B	19	17316782	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	2689282	17316782	41812201	269	269										
ANKLE1	126549	hgsc.bcm.edu	37	chr19	17393015	17393015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccaaggcggggaccccaacgCtcggtaagatagagcctggg	15	12	0	2	rs1864116	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:17393015C>T	ENST00000394458.3	+	2	488	c.212C>T	c.(211-213)gCt>gTt	p.A71V	ANKLE1_ENST00000404085.1_Missense_Mutation_p.A93V|ANKLE1_ENST00000594072.1_Missense_Mutation_p.A60V|ANKLE1_ENST00000598347.1_Missense_Mutation_p.A71V|ANKLE1_ENST00000433424.2_Missense_Mutation_p.A125V|CTD-2278I10.6_ENST00000596542.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	71			A -> V (in dbSNP:rs1864116). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACCCCAACGCTCGGTAAGAT	0.741													C|||	3182	0.635383	0.798	0.5533	5008	,	,		8910	0.3125		0.834	False		,,,				2504	0.6022				p.A71V		Atlas-SNP	.											.	ANKLE1	27	.	0			c.C212T						PASS	.	C	VAL/ALA	2161,339		925,311,14	2	2	2		212	0.8	0.5	19	dbSNP_92	2	4508,662		1957,594,34	yes	missense	ANKLE1	NM_152363.4	64	2882,905,48	TT,TC,CC		12.8046,13.56,13.0508	probably-damaging	71/616	17393015	6669,1001	1250	2585	3835	SO:0001583	missense	126549	exon2			CCAACGCTCGGTA	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.212C>T	19.37:g.17393015C>T	ENSP00000377971:p.Ala71Val	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_152363	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	1399	0.6405677655677655	380	0.7723577235772358	218	0.6022099447513812	164	0.2867132867132867	637	0.8403693931398417	C	16.19	3.054076	0.55218	0.8644	0.871954	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.67865	-0.29;-0.29;-0.29	4.15	0.796	0.18648	Ankyrin repeat-containing domain (4);	0.432303	0.19437	N	0.114285	T	0.00012	0.0000	N	0.20807	0.61	0.80722	P	0.0	B;B;B	0.15930	0.005;0.015;0.002	B;B;B	0.17722	0.016;0.015;0.019	T	0.27606	-1.0069	9	0.18710	T	0.47	-20.551	6.1339	0.20221	0.0:0.667:0.0:0.333	rs1864116;rs17238816;rs59648740;rs1864116	71;57;71	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	V	71;125;93;60;71	ENSP00000384753:A71V;ENSP00000394460:A125V;ENSP00000384008:A93V	ENSP00000377971:A60V	A	+	2	0	ANKLE1	17254015	0.002000	0.14202	0.527000	0.27925	0.842000	0.47809	0.606000	0.24194	0.078000	0.16900	0.555000	0.69702	GCT	C|0.362;T|0.638	0.638	strong		0.741	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		T	17393015	C	T	17393015	3	4	1	1	0	0	0	0	1	0	0	0	632	797	28	2	218	2	ANKLE1	19	17393015	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	76233	17393015	41735968	270	270										
CCDC123	84902	hgsc.bcm.edu	37	chr19	33444556	33444556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cacagcgtacaggtcatcacTgtggcctcctctgtcctccc	8	17	3	0	rs73579706	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:33444556T>C	ENST00000305768.5	-	4	545	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	CEP89_ENST00000590597.2_Missense_Mutation_p.S153G	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTCATCACTGTGGCCTCCT	0.483																																					p.S153G		Atlas-SNP	.											CEP89,NS,carcinoma,+1,1	CEP89	82	1	0			c.A457G						scavenged	.						401	426	418					19																	33444556		2203	4300	6503	SO:0001583	missense	84902	exon4			CATCACTGTGGCC	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.457A>G	19.37:g.33444556T>C	ENSP00000306105:p.Ser153Gly	Somatic	79	2	0.0253165		WXS	Illumina HiSeq	Phase_I	89	5	0.0561798	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	3.578	-0.086165	0.07097	.	.	ENSG00000121289	ENST00000305768	T	0.31510	1.49	5.12	-10.2	0.00374	.	3.796690	0.00695	N	0.000748	T	0.07234	0.0183	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.34725	-0.9817	10	0.22706	T	0.39	7.6155	0.6143	0.00767	0.2371:0.2982:0.1712:0.2935	.	124;153;153	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	G	153	ENSP00000306105:S153G	ENSP00000306105:S153G	S	-	1	0	CEP89	38136396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.650000	0.01991	-4.026000	0.00080	-0.951000	0.02657	AGT	T|0.500;C|0.500	0.500	strong		0.483	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		C	33444556	T	C	33444556	3	2	1	1	0	0	0	0	1	0	0	0	2759	1580	55	3	1958	3	CCDC123	19	33444556	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	16051541	33444556	25684427	271	271										
ZNF181	339318	hgsc.bcm.edu	37	chr19	35232469	35232469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtagctcacaccttactcgaCatcaaagaattcacactatg	5	12	3	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:35232469C>T	ENST00000492450.1	+	4	1272	c.1183C>T	c.(1183-1185)Cat>Tat	p.H395Y	ZNF181_ENST00000392232.3_Missense_Mutation_p.H439Y|ZNF181_ENST00000459757.2_Missense_Mutation_p.H394Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	395					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTTACTCGACATCAAAGAAT	0.388																																					p.H395Y		Atlas-SNP	.											.	ZNF181	65	.	0			c.C1183T						PASS	.						72	67	68					19																	35232469		2203	4298	6501	SO:0001583	missense	339318	exon4			ACTCGACATCAAA	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1183C>T	19.37:g.35232469C>T	ENSP00000420727:p.His395Tyr	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	122	19	0.155738	NM_001029997	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285590	0.59867	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	D;D;D	0.86769	-2.17;-2.17;-2.17	2.84	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95098	0.8412	H	0.97611	4.04	0.34829	D	0.739442	D;P	0.71674	0.998;0.95	D;D	0.66847	0.944;0.947	D	0.97572	1.0105	9	0.87932	D	0	.	11.88	0.52568	0.0:1.0:0.0:0.0	.	394;395	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	Y	439;394;395;394	ENSP00000376065:H439Y;ENSP00000420727:H395Y;ENSP00000419435:H394Y	ENSP00000376065:H439Y	H	+	1	0	ZNF181	39924309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.481000	0.73608	1.876000	0.54355	0.561000	0.74099	CAT	.	.	none		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		T	35232469	C	T	35232469	3	4	1	1	0	0	0	0	1	0	0	0	17746	478	17	2	1197	2	ZNF181	19	35232469	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1787913	35232469	23896514	272	272										
ZNF546	339327	hgsc.bcm.edu	37	chr19	40504295	40504295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tctcatttttcaaatcattcCtctgcactcactttctataa	1	12	6	0	rs139751800	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:40504295C>T	ENST00000347077.4	+	3	278	c.62C>T	c.(61-63)cCt>cTt	p.P21L	ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAATCATTCCTCTGCACTCA	0.403													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18331	0.0		0.0	False		,,,				2504	0.0				p.P21L		Atlas-SNP	.											.	ZNF546	93	.	0			c.C62T						PASS	.	C	LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	95	92	93		62	-0.7	0	19	dbSNP_134	93	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	98	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	21/837	40504295	4,13002	2203	4300	6503	SO:0001583	missense	339327	exon3			TCATTCCTCTGCA	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.62C>T	19.37:g.40504295C>T	ENSP00000339823:p.Pro21Leu	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	103	31	0.300971	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	6.834	0.523083	0.13066	9.08E-4	0.0	ENSG00000187187	ENST00000347077	T	0.06528	3.29	1.66	-0.677	0.11357	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43048	-0.9415	9	0.49607	T	0.09	.	2.2331	0.04002	0.3012:0.5036:0.0:0.1953	.	21	Q86UE3	ZN546_HUMAN	L	21	ENSP00000339823:P21L	ENSP00000339823:P21L	P	+	2	0	ZNF546	45196135	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.414000	0.07114	-0.099000	0.12263	-0.145000	0.13849	CCT	C|1.000;T|0.000	0.000	weak		0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		T	40504295	C	T	40504295	3	4	1	1	0	0	0	0	1	0	0	0	17975	681	24	2	64	2	ZNF546	19	40504295	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	5271826	40504295	18624688	273	273										
CLPTM1	1209	hgsc.bcm.edu	37	chr19	45495643	45495643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcccgttatgtaccggatcGgctgcctgcgggacggtgag	16	11	0	1	rs548487634		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:45495643G>A	ENST00000337392.5	+	13	1858	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S	CLPTM1_ENST00000541297.2_Missense_Mutation_p.G556S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.G468S	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	570					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)		GTACCGGATCGGCTGCCTGCG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0				p.G570S		Atlas-SNP	.											CLPTM1_ENST00000347493,colon,carcinoma,0,2	CLPTM1	109	2	0			c.G1708A						scavenged	.						162	151	154					19																	45495643		2203	4300	6503	SO:0001583	missense	1209	exon13			CGGATCGGCTGCC	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.1708G>A	19.37:g.45495643G>A	ENSP00000336994:p.Gly570Ser	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	134	4	0.0298507	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798279	0.90538	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.21	5.21	0.72293	.	0.057551	0.64402	D	0.000002	T	0.46619	0.1402	N	0.03983	-0.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.942	T	0.46359	-0.9197	9	0.17832	T	0.49	-48.0596	14.1849	0.65598	0.0:0.0:1.0:0.0	.	556;570	F5H8J3;O96005	.;CLPT1_HUMAN	S	468;556;570;570	.	ENSP00000336994:G570S	G	+	1	0	CLPTM1	50187483	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.891000	0.92485	2.727000	0.93392	0.650000	0.86243	GGC	.	.	none		0.647	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		A	45495643	G	A	45495643	3	1	1	1	0	0	0	0	1	0	0	0	3554	1116	39	1	1758	1	CLPTM1	19	45495643	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	4991348	45495643	13633340	274	274										
QPCTL	54814	hgsc.bcm.edu	37	chr19	46206262	46206262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccacccacggtacacaacttGtgccgcattctcgctgtgtt	8	15	1	0	rs17850756	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:46206262G>A	ENST00000012049.5	+	7	1325	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L	QPCTL_ENST00000366382.4_Silent_p.L274L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	368					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.L368L(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TACACAACTTGTGCCGCATTC	0.612													G|||	1178	0.235224	0.2163	0.1744	5008	,	,		18926	0.2133		0.2853	False		,,,				2504	0.2751				p.L368L		Atlas-SNP	.											QPCTL,NS,carcinoma,0,1	QPCTL	24	1	1	Substitution - coding silent(1)	stomach(1)	c.G1104A						scavenged	.	G	,	973,3433	366.4+/-317.8	114,745,1344	171	125	140		822,1104	-8.7	0.8	19	dbSNP_123	140	2781,5819	441.0+/-359.7	472,1837,1991	no	coding-synonymous,coding-synonymous	QPCTL	NM_001163377.1,NM_017659.3	,	586,2582,3335	AA,AG,GG		32.3372,22.0835,28.8636	,	274/289,368/383	46206262	3754,9252	2203	4300	6503	SO:0001819	synonymous_variant	54814	exon7			CAACTTGTGCCGC	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1104G>A	19.37:g.46206262G>A		Somatic	427	3	0.00702576		WXS	Illumina HiSeq	Phase_I	383	7	0.0182768	NM_017659	Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	CCDS12672.1																																																																																			G|0.727;A|0.273	0.273	strong		0.612	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		A	46206262	G	A	46206262	2	1	1	1	0	0	0	0	0	0	0	1	12875	1368	48	2		2	QPCTL	19	46206262	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	710619	46206262	12922721	275	275										
FAM83E	54854	hgsc.bcm.edu	37	chr19	49116555	49116555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgctggccctcggaatatagAaagccggggctggccccggg	16	13	0	1	rs368654	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:49116555A>G	ENST00000263266.3	-	1	264	c.75T>C	c.(73-75)ttT>ttC	p.F25F	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	25										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGGAATATAGAAAGCCGGGGC	0.701													G|||	4442	0.886981	0.9887	0.8401	5008	,	,		13823	0.997		0.7137	False		,,,				2504	0.8476				p.F25F		Atlas-SNP	.											FAM83E,NS,carcinoma,0,1	FAM83E	34	1	0			c.T75C						scavenged	.	G		3176,174		1515,146,14	8	10	9		75	2.9	0	19	dbSNP_80	9	5522,2104		2021,1480,312	no	coding-synonymous	FAM83E	NM_017708.3		3536,1626,326	GG,GA,AA		27.5898,5.194,20.7544		25/479	49116555	8698,2278	1675	3813	5488	SO:0001819	synonymous_variant	54854	exon1			ATATAGAAAGCCG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.75T>C	19.37:g.49116555A>G		Somatic	4	1	0.25		WXS	Illumina HiSeq	Phase_I	6	4	0.666667	NM_017708	Q9NXK1	Silent	SNP	ENST00000263266.3	37	CCDS42587.1																																																																																			A|0.144;G|0.856	0.856	strong		0.701	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		G	49116555	A	G	49116555	2	3	1	1	0	0	0	0	0	0	0	1	5637	243	9	2		2	FAM83E	19	49116555	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	2910293	49116555	10012428	276	276										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377187	49377187	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	aggaagagaatcaagccacgGaggataaaagaacagaaaga	12	5	1	4			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:49377187G>T	ENST00000200453.5	+	2	966	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	233	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.E233K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCAAGCCACGGAGGATAAAAG	0.537																																					p.E233X		Atlas-SNP	.											PPP1R15A,caecum,carcinoma,0,1	PPP1R15A	48	1	1	Substitution - Missense(1)	large_intestine(1)	c.G697T						scavenged	.						75	84	81					19																	49377187		2203	4300	6503	SO:0001587	stop_gained	23645	exon2			GCCACGGAGGATA	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.697G>T	19.37:g.49377187G>T	ENSP00000200453:p.Glu233*	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	81	3	0.037037	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Nonsense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	37	6.434933	0.97564	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	.	.	.	4.04	4.04	0.47022	.	0.896444	0.09522	N	0.790754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.8722	11.8954	0.52654	0.0:0.0:1.0:0.0	.	.	.	.	X	233;73;191	.	ENSP00000200453:E233X	E	+	1	0	PPP1R15A	54068999	0.279000	0.24239	0.226000	0.23910	0.136000	0.21042	0.802000	0.27069	2.276000	0.75962	0.561000	0.74099	GAG	.	.	none		0.537	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		T	49377187	G	T	49377187	4	4	1	1	0	0	0	0	0	1	0	0	12363	1175	41	4	699	4	PPP1R15A	19	49377187	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	260632	49377187	9751796	277	277										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51920498	51920498	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agtgagctggaatcggccccGggtgctcatttccacctctc	11	14	2	1	rs201146870		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:51920498G>T	ENST00000339313.5	-	2	375	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	SIGLEC10_ENST00000353836.5_Silent_p.R87R|SIGLEC10_ENST00000439889.2_Silent_p.R87R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Silent_p.R87R|SIGLEC10_ENST00000525998.1_Silent_p.R87R|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Silent_p.R87R|SIGLEC10_ENST00000441969.3_Silent_p.R87R|SIGLEC10_ENST00000432469.2_Silent_p.R87R|SIGLEC10_ENST00000356298.5_Silent_p.R87R|CTD-2616J11.2_ENST00000526996.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	87	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R87W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AATCGGCCCCGGGTGCTCATT	0.567																																					p.R87R		Atlas-SNP	.											SIGLEC12_ENST00000439889,NS,carcinoma,0,5	SIGLEC10	112	5	2	Substitution - Missense(2)	endometrium(2)	c.C259A						scavenged	.						56	55	55					19																	51920498		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon2			GGCCCCGGGTGCT	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.259C>A	19.37:g.51920498G>T		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	258	3	0.0116279	NM_001171161	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			G|0.999;A|0.001	.	alt		0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		T	51920498	G	T	51920498	2	4	1	1	0	0	0	0	0	0	0	1	14306	1115	39	4		4	SIGLEC10	19	51920498	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2543311	51920498	7208485	278	278										
BIRC8	112401	hgsc.bcm.edu	37	chr19	53793122	53793122	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggctgatttctctctgcaatGaagtctgattcaattcattt	7	8	5	3			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:53793122G>T	ENST00000426466.1	-	1	1753	c.506C>A	c.(505-507)tCa>tAa	p.S169*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	169					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTCTGCAATGAAGTCTGATT	0.418																																					p.S169X		Atlas-SNP	.											.	BIRC8	54	.	0			c.C506A						PASS	.						87	86	86					19																	53793122		2203	4300	6503	SO:0001587	stop_gained	112401	exon1			TGCAATGAAGTCT	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.506C>A	19.37:g.53793122G>T	ENSP00000412957:p.Ser169*	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	110	17	0.154545	NM_033341	Q6IPY1|Q96RW5	Nonsense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	G	43	10.235541	0.99365	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.637	-0.588	0.11687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1522	4.9292	0.13909	0.2589:0.0:0.7411:0.0	.	.	.	.	X	169	.	ENSP00000412957:S169X	S	-	2	0	BIRC8	58484934	0.007000	0.16637	0.010000	0.14722	0.003000	0.03518	0.299000	0.19138	-0.140000	0.11394	-0.347000	0.07816	TCA	.	.	none		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		T	53793122	G	T	53793122	4	4	1	1	0	0	0	0	0	1	0	0	1440	1294	45	4	208	4	BIRC8	19	53793122	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1872624	53793122	5335861	279	279										
OSCAR	126014	hgsc.bcm.edu	37	chr19	54599222	54599222	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tagtagcagctgtaggtgccGggggcgcgggcgcccagcag	19	11	0	0	rs61742144	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:54599222G>T	ENST00000284648.6	-	5	767	c.570C>A	c.(568-570)ccC>ccA	p.P190P	OSCAR_ENST00000358375.4_Silent_p.P190P|OSCAR_ENST00000359649.4_Silent_p.P194P|OSCAR_ENST00000391761.1_Silent_p.P179P|OSCAR_ENST00000351806.4_Silent_p.P179P|OSCAR_ENST00000391760.1_Silent_p.R133R|OSCAR_ENST00000356532.3_Silent_p.P194P			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	190	Ig-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TGTAGGTGCCGGGGGCGCGGG	0.711													g|||	640	0.127796	0.1831	0.1182	5008	,	,		11804	0.0526		0.1113	False		,,,				2504	0.1544				p.P194P		Atlas-SNP	.											OSCAR_ENST00000356532,NS,carcinoma,0,2	OSCAR	22	2	0			c.C582A						scavenged	.	T	,,,	640,3676		47,546,1565	7	8	8		582,537,570,582	-8.1	0	19	dbSNP_129	8	968,7474		66,836,3319	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSCAR	NM_130771.3,NM_133168.3,NM_133169.3,NM_206818.1	,,,	113,1382,4884	TT,TG,GG		11.4665,14.8285,12.6039	,,,	194/268,179/253,190/264,194/287	54599222	1608,11150	2158	4221	6379	SO:0001819	synonymous_variant	126014	exon5			GGTGCCGGGGGCG	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.570C>A	19.37:g.54599222G>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	9	2	0.222222	NM_130771	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	37																																																																																				G|0.886;T|0.114	0.114	strong		0.711	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		T	54599222	G	T	54599222	2	4	1	1	0	0	0	0	0	0	0	1	11285	1103	39	4		4	OSCAR	19	54599222	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	806100	54599222	4529761	280	280										
EPS8L1	54869	hgsc.bcm.edu	37	chr19	55598724	55598724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcagcttttctcgctgcagaAggaggagctgcgggcggtga	17	9	1	2	rs1054940	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:55598724A>G	ENST00000201647.6	+	19	2062	c.2006A>G	c.(2005-2007)aAg>aGg	p.K669R	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.K355R|EPS8L1_ENST00000540810.1_Missense_Mutation_p.K605R|EPS8L1_ENST00000245618.5_Missense_Mutation_p.K542R	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	669			K -> R (in dbSNP:rs1054940). {ECO:0000269|PubMed:12620401, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15498874}.		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)		TCGCTGCAGAAGGAGGAGCTG	0.731													A|||	2342	0.467652	0.3419	0.4597	5008	,	,		13706	0.4514		0.506	False		,,,				2504	0.6207				p.K669R	Ovarian(149;255 1863 3636 27051 29647)	Atlas-SNP	.											EPS8L1_ENST00000245618,NS,carcinoma,0,2	EPS8L1	122	2	0			c.A2006G						scavenged	.	A	ARG/LYS,ARG/LYS	1592,2812		310,972,920	26	28	27		1625,2006	4	1	19	dbSNP_86	27	4241,4353		1078,2085,1134	yes	missense,missense	EPS8L1	NM_017729.3,NM_133180.2	26,26	1388,3057,2054	GG,GA,AA		49.3484,36.149,44.8761	probably-damaging,probably-damaging	542/597,669/724	55598724	5833,7165	2202	4297	6499	SO:0001583	missense	54869	exon19			TGCAGAAGGAGGA	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.2006A>G	19.37:g.55598724A>G	ENSP00000201647:p.Lys669Arg	Somatic	7	1	0.142857		WXS	Illumina HiSeq	Phase_I	4	3	0.75	NM_133180	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	983	0.4500915750915751	171	0.3475609756097561	170	0.4696132596685083	260	0.45454545454545453	382	0.503957783641161	A	27.8	4.868341	0.91587	0.36149	0.493484	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.25250	1.81;1.81;1.81	4.02	4.02	0.46733	.	0.121108	0.53938	D	0.000057	T	0.00012	0.0000	L	0.54908	1.71	0.09310	P	0.99999486196	D;D;P	0.89917	1.0;0.991;0.863	D;D;P	0.87578	0.998;0.927;0.73	T	0.50440	-0.8828	9	0.34782	T	0.22	-35.624	11.4935	0.50394	1.0:0.0:0.0:0.0	rs1054940;rs3195458;rs58630253;rs1054940	448;542;669	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	R	669;605;542;355	ENSP00000201647:K669R;ENSP00000437541:K605R;ENSP00000245618:K542R	ENSP00000201647:K669R	K	+	2	0	EPS8L1	60290536	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.360000	0.66086	1.768000	0.52137	0.260000	0.18958	AAG	A|0.559;G|0.441	0.441	strong		0.731	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		G	55598724	A	G	55598724	3	3	1	1	0	0	0	0	1	0	0	0	5195	72	3	3	2128	3	EPS8L1	19	55598724	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	999502	55598724	3530259	281	281										
ZNF471	57573	hgsc.bcm.edu	37	chr19	57036891	57036891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agaattcatactggtgaaaaAccctatgaatgtaaagaatg	8	5	1	4			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr19:57036891A>C	ENST00000308031.5	+	5	1588	c.1455A>C	c.(1453-1455)aaA>aaC	p.K485N	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	485					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTGGTGAAAAACCCTATGAAT	0.383																																					p.K485N	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Atlas-SNP	.											.	ZNF471	99	.	0			c.A1455C						PASS	.						55	56	55					19																	57036891		2203	4300	6503	SO:0001583	missense	57573	exon5			TGAAAAACCCTAT	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1455A>C	19.37:g.57036891A>C	ENSP00000309161:p.Lys485Asn	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	61	7	0.114754	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913227	0.52439	.	.	ENSG00000196263	ENST00000308031	T	0.26067	1.76	3.66	2.59	0.31030	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43166	0.1235	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.27434	-1.0074	9	0.72032	D	0.01	.	5.8421	0.18639	0.8355:0.0:0.1645:0.0	.	485	Q9BX82	ZN471_HUMAN	N	485	ENSP00000309161:K485N	ENSP00000309161:K485N	K	+	3	2	ZNF471	61728703	0.004000	0.15560	0.997000	0.53966	0.985000	0.73830	-0.726000	0.04936	0.497000	0.27926	0.379000	0.24179	AAA	.	.	none		0.383	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		C	57036891	A	C	57036891	3	2	1	1	0	0	0	0	1	0	0	0	17927	40	2	5	1469	5	ZNF471	19	57036891	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1438167	57036891	2092092	282	282										
TMX4	56255	hgsc.bcm.edu	37	chr20	8000141	8000141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cagttggaggcggtcatgggCtggacccggctctgctccgg	17	12	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:8000141C>T	ENST00000246024.2	-	1	335	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RP5-971N18.3_ENST00000607924.1_RNA|RP5-971N18.3_ENST00000457707.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	40	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CGGTCATGGGCTGGACCCGGC	0.736																																					p.Q40Q		Atlas-SNP	.											.	TMX4	39	.	0			c.G120A						PASS	.						13	14	14					20																	8000141		1935	3764	5699	SO:0001819	synonymous_variant	56255	exon1			CATGGGCTGGACC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.120G>A	20.37:g.8000141C>T		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	40	11	0.275	NM_021156	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																			.	.	none		0.736	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		T	8000141	C	T	8000141	2	4	1	1	0	0	0	0	0	0	0	1	16266	796	28	2		2	TMX4	20	8000141	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10		8000141	55025379	283	283										
C20orf103	24141	hgsc.bcm.edu	37	chr20	9498795	9498795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttcactggcctctagtgatcCgcagaagacggtcaccatga	10	12	3	4	rs137866690		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:9498795C>T	ENST00000246070.2	+	5	1076	c.584C>T	c.(583-585)cCg>cTg	p.P195L	LAMP5_ENST00000427562.2_Missense_Mutation_p.P151L	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	195						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TCTAGTGATCCGCAGAAGACG	0.512																																					p.P195L		Atlas-SNP	.											.	.	.	.	0			c.C584T						PASS	.	T	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	129	104	112		452,584	2.6	0.3	20	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense	C20orf103	NM_001199897.1,NM_012261.3	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	151/237,195/281	9498795	1,13005	2203	4300	6503	SO:0001583	missense	24141	exon5			GTGATCCGCAGAA	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.584C>T	20.37:g.9498795C>T	ENSP00000246070:p.Pro195Leu	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	303	72	0.237624	NM_012261	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	c	10.44	1.351081	0.24512	2.27E-4	0.0	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.31510	1.49;1.49	5.84	2.59	0.31030	.	0.274631	0.40908	N	0.000994	T	0.12646	0.0307	N	0.14661	0.345	0.42298	D	0.992169	P;B	0.35192	0.489;0.004	B;B	0.22152	0.038;0.002	T	0.13764	-1.0497	9	.	.	.	-2.5454	7.7449	0.28862	0.5288:0.3877:0.0:0.0835	.	151;195	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	L	195;151	ENSP00000246070:P195L;ENSP00000406360:P151L	.	P	+	2	0	C20orf103	9446795	0.999000	0.42202	0.335000	0.25508	0.363000	0.29612	4.323000	0.59221	0.800000	0.34041	-0.119000	0.15052	CCG	C|1.000;T|0.000	0.000	weak		0.512	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		T	9498795	C	T	9498795	3	4	1	1	0	0	0	0	1	0	0	0	2075	652	23	1	602	1	C20orf103	20	9498795	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	1498654	9498795	53526725	284	284										
C20orf94	128710	hgsc.bcm.edu	37	chr20	10603706	10603706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cgcaggaactgcagctctgcGgaagacttcgaccaccacgg	12	14	1	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:10603706G>A	ENST00000334534.5	+	8	1086	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	302																	GCAGCTCTGCGGAAGACTTCG	0.507																																					p.A302A		Atlas-SNP	.											.	.	.	.	0			c.G906A						PASS	.						89	99	96					20																	10603706		2203	4300	6503	SO:0001819	synonymous_variant	128710	exon8			CTCTGCGGAAGAC	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.906G>A	20.37:g.10603706G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	71	11	0.15493	NM_001009608	Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	CCDS33439.1																																																																																			.	.	none		0.507	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		A	10603706	G	A	10603706	2	1	1	1	0	0	0	0	0	0	0	1	2121	1103	39	1		1	C20orf94	20	10603706	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10	1104911	10603706	52421814	285	285										
SEC23B	10483	hgsc.bcm.edu	37	chr20	18513372	18513372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	atctctgaatgtgaaaggacCgtgtgtgtcagaaaatgtaa	11	5	2	3	rs17807673	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:18513372C>T	ENST00000336714.3	+	11	1730	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	SEC23B_ENST00000377465.1_Missense_Mutation_p.P433L|SEC23B_ENST00000262544.2_Missense_Mutation_p.P433L|SEC23B_ENST00000377475.3_Missense_Mutation_p.P433L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	433			P -> L (in dbSNP:rs17807673). {ECO:0000269|PubMed:15489334}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTGAAAGGACCGTGTGTGTCA	0.453													C|||	307	0.0613019	0.0061	0.1095	5008	,	,		22089	0.003		0.1302	False		,,,				2504	0.091				p.P433L		Atlas-SNP	.											SEC23B,NS,carcinoma,-1,1	SEC23B	70	1	0			c.C1298T						scavenged	.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	133,4273	95.3+/-134.0	4,125,2074	135	128	130		1298,1244,1298,1298,1298	4.8	1	20	dbSNP_123	130	1235,7365	248.6+/-276.2	95,1045,3160	yes	missense,missense,missense,missense,missense	SEC23B	NM_001172745.1,NM_001172746.1,NM_006363.4,NM_032985.4,NM_032986.3	98,98,98,98,98	99,1170,5234	TT,TC,CC		14.3605,3.0186,10.5182	benign,benign,benign,benign,benign	433/768,415/750,433/768,433/768,433/768	18513372	1368,11638	2203	4300	6503	SO:0001583	missense	10483	exon11			AAGGACCGTGTGT	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1298C>T	20.37:g.18513372C>T	ENSP00000338844:p.Pro433Leu	Somatic	219	2	0.00913242		WXS	Illumina HiSeq	Phase_I	251	4	0.0159363	NM_032985	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	133	0.060897435897435896	6	0.012195121951219513	31	0.0856353591160221	1	0.0017482517482517483	95	0.12532981530343007	C	19.62	3.860872	0.71834	0.030186	0.143605	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.75	4.75	0.60458	Sec23/Sec24 beta-sandwich (1);	0.217145	0.48767	D	0.000178	T	0.02929	0.0087	M	0.90595	3.13	0.09310	P	0.9999999999602158	P	0.35411	0.5	B	0.42282	0.382	T	0.57837	-0.7742	9	0.72032	D	0.01	-11.4113	17.2702	0.87099	0.0:1.0:0.0:0.0	rs17807673;rs17849993;rs56617302;rs17807673	433	Q15437	SC23B_HUMAN	L	433	ENSP00000338844:P433L;ENSP00000262544:P433L;ENSP00000366695:P433L;ENSP00000366685:P433L	ENSP00000262544:P433L	P	+	2	0	SEC23B	18461372	0.998000	0.40836	0.977000	0.42913	0.989000	0.77384	7.109000	0.77062	2.631000	0.89168	0.655000	0.94253	CCG	C|0.909;T|0.091	0.091	strong		0.453	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			T	18513372	C	T	18513372	3	4	1	1	0	0	0	0	1	0	0	0	13992	652	23	1	1336	1	SEC23B	20	18513372	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	7909666	18513372	44512148	286	286										
PAX1	5075	hgsc.bcm.edu	37	chr20	21687153	21687153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcccaacgccatccgcttgCgcattgtggagctggcgcag	13	14	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:21687153C>T	ENST00000398485.2	+	2	418	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R98C	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	122	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CATCCGCTTGCGCATTGTGGA	0.647																																					p.R122C		Atlas-SNP	.											.	PAX1	152	.	0			c.C364T						PASS	.						32	35	34					20																	21687153		2203	4299	6502	SO:0001583	missense	5075	exon2			CGCTTGCGCATTG		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.364C>T	20.37:g.21687153C>T	ENSP00000381499:p.Arg122Cys	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_006192	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981240	0.53827	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99479	-5.98;-5.98	5.14	5.14	0.70334	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98521	1.0623	10	0.87932	D	0	.	18.2175	0.89890	0.0:1.0:0.0:0.0	.	98;28;122	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	C	122;98	ENSP00000381499:R122C;ENSP00000410355:R98C	ENSP00000381499:R122C	R	+	1	0	PAX1	21635153	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	2.369000	0.44231	2.382000	0.81193	0.655000	0.94253	CGC	.	.	none		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			T	21687153	C	T	21687153	3	4	1	1	0	0	0	0	1	0	0	0	11478	768	27	1	370	1	PAX1	20	21687153	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3173781	21687153	41338367	287	287										
C20orf185	359710	hgsc.bcm.edu	37	chr20	31656632	31656632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ctggggaagctgcccctgcaCcagcaactcctactgttcct	9	16	0	0	rs6057717	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:31656632C>G	ENST00000375494.3	+	10	1002	c.1002C>G	c.(1000-1002)caC>caG	p.H334Q		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	334			H -> Q (in dbSNP:rs6057717).		innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGCCCCTGCACCAGCAACTCC	0.562													C|||	2414	0.482029	0.3086	0.4741	5008	,	,		17133	0.7698		0.3837	False		,,,				2504	0.5266				p.H334Q		Atlas-SNP	.											C20orf185,NS,carcinoma,0,1	.	.	1	0			c.C1002G						scavenged	.	C	GLN/HIS	1307,3099	442.3+/-346.6	202,903,1098	89	66	74		1002	2.3	0.6	20	dbSNP_114	74	3124,5476	475.9+/-369.2	578,1968,1754	yes	missense	BPIFB3	NM_182658.1	24	780,2871,2852	GG,GC,CC		36.3256,29.6641,34.0689	benign	334/477	31656632	4431,8575	2203	4300	6503	SO:0001583	missense	359710	exon10			CCTGCACCAGCAA	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1002C>G	20.37:g.31656632C>G	ENSP00000364643:p.His334Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	79	2	0.0253165	NM_182658	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	1051	0.48122710622710624	163	0.3313008130081301	160	0.4419889502762431	438	0.7657342657342657	290	0.38258575197889183	C	2.285	-0.363791	0.05103	0.296641	0.363256	ENSG00000186190	ENST00000375494	T	0.08193	3.12	4.25	2.26	0.28386	.	2.005100	0.02461	N	0.086613	T	0.00012	0.0000	N	0.22421	0.69	0.58432	P	9.99999999995449E-6	B	0.26635	0.155	B	0.29785	0.107	T	0.28332	-1.0047	9	0.13853	T	0.58	0.2314	6.1232	0.20164	0.0:0.7579:0.0:0.2421	rs6057717;rs6057717	334	P59826	BPIB3_HUMAN	Q	334	ENSP00000364643:H334Q	ENSP00000364643:H334Q	H	+	3	2	BPIFB3	31120293	0.019000	0.18553	0.644000	0.29465	0.068000	0.16541	0.094000	0.15107	0.519000	0.28406	0.591000	0.81541	CAC	C|0.625;G|0.375	0.375	strong		0.562	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		G	31656632	C	G	31656632	3	3	1	1	0	0	0	0	1	0	0	0	2097	506	18	4	1040	4	C20orf185	20	31656632	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	9969479	31656632	31368888	288	288										
PTPRT	11122	hgsc.bcm.edu	37	chr20	40709537	40709537	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agctaaaaggagcttaaataTtccagtgccacctcgtatac	7	10	0	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr20:40709537T>A	ENST00000373187.1	-	31	4307	c.4308A>T	c.(4306-4308)gaA>gaT	p.E1436D	PTPRT_ENST00000373201.1_Missense_Mutation_p.E1426D|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1439D|PTPRT_ENST00000373198.4_Missense_Mutation_p.E1455D|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1446D|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1445D|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1435D			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1436	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCTTAAATATTCCAGTGCCA	0.507																																					p.E1455D		Atlas-SNP	.											PTPRT,upper_back,malignant_melanoma,-2,1	PTPRT	372	1	0			c.A4365T						PASS	.						56	60	59					20																	40709537		2084	4243	6327	SO:0001583	missense	11122	exon32			TAAATATTCCAGT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4308A>T	20.37:g.40709537T>A	ENSP00000362283:p.Glu1436Asp	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	31	7	0.225806	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740476	0.89573	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.08	6.08	0.98989	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.92777	0.6237	10	0.87932	D	0	.	10.9027	0.47062	0.0:0.0695:0.0:0.9305	.	1458;1436	O14522-1;O14522	.;PTPRT_HUMAN	D	1435;1436;1439;1445;1458;1446;1426	ENSP00000362286:E1435D;ENSP00000362283:E1436D;ENSP00000362289:E1439D;ENSP00000348408:E1445D;ENSP00000362294:E1458D;ENSP00000362280:E1446D;ENSP00000362297:E1426D	ENSP00000348408:E1445D	E	-	3	2	PTPRT	40142951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.782000	0.47758	2.333000	0.79357	0.533000	0.62120	GAA	.	.	none		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40709537	T	A	40709537	3	1	1	1	0	0	0	0	1	0	0	0	12812	1490	52	5	21	5	PTPRT	20	40709537	Missense_Mutation	SNP	T	TCGA-FA-8693-01A-11D-2397-10	9052905	40709537	22315983	289	289										
ADAMTS5	11096	hgsc.bcm.edu	37	chr21	28306970	28306970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	acacacggagtactcaggccCgaatgtcaggttgcactgct	11	12	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:28306970C>T	ENST00000284987.5	-	4	1625	c.1504G>A	c.(1504-1506)Ggg>Agg	p.G502R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	502	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TACTCAGGCCCGAATGTCAGG	0.592																																					p.G502R	Esophageal Squamous(53;683 1080 10100 14424 45938)	Atlas-SNP	.											ADAMTS5,NS,carcinoma,+1,1	ADAMTS5	184	1	0			c.G1504A						scavenged	.						106	85	92					21																	28306970		2203	4300	6503	SO:0001583	missense	11096	exon4			CAGGCCCGAATGT	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1504G>A	21.37:g.28306970C>T	ENSP00000284987:p.Gly502Arg	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	218	4	0.0183486	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129729	0.94473	.	.	ENSG00000154736	ENST00000284987	T	0.12465	2.68	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45145	-0.9281	10	0.87932	D	0	.	19.4665	0.94945	0.0:1.0:0.0:0.0	.	502	Q9UNA0	ATS5_HUMAN	R	502	ENSP00000284987:G502R	ENSP00000284987:G502R	G	-	1	0	ADAMTS5	27228841	1.000000	0.71417	0.905000	0.35620	0.825000	0.46686	7.433000	0.80362	2.624000	0.88883	0.557000	0.71058	GGG	.	.	none		0.592	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			T	28306970	C	T	28306970	3	4	1	1	0	0	0	0	1	0	0	0	269	652	23	1	1308	1	ADAMTS5	21	28306970	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10		28306970	19822925	290	290										
TIAM1	7074	hgsc.bcm.edu	37	chr21	32554842	32554842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccactccttcctccagctcgGggtaggtcctcaccaggagg	11	16	1	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:32554842G>T	ENST00000286827.3	-	16	3254	c.2783C>A	c.(2782-2784)cCc>cAc	p.P928H	TIAM1_ENST00000541036.1_Missense_Mutation_p.P868H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	928					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCAGCTCGGGGTAGGTCCT	0.602																																					p.P928H		Atlas-SNP	.											.	TIAM1	522	.	0			c.C2783A						PASS	.						43	43	43					21																	32554842		2203	4300	6503	SO:0001583	missense	7074	exon16			AGCTCGGGGTAGG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2783C>A	21.37:g.32554842G>T	ENSP00000286827:p.Pro928His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	95	25	0.263158	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873912	0.72180	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.49139	0.79;0.82	4.24	4.24	0.50183	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.64807	-0.6320	10	0.56958	D	0.05	.	13.6799	0.62476	0.0:0.0:1.0:0.0	.	868;868;928	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	928;769;868	ENSP00000286827:P928H;ENSP00000441570:P868H	ENSP00000286827:P928H	P	-	2	0	TIAM1	31476713	1.000000	0.71417	0.937000	0.37676	0.985000	0.73830	5.349000	0.66010	2.193000	0.70182	0.555000	0.69702	CCC	.	.	none		0.602	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32554842	G	T	32554842	3	4	1	1	0	0	0	0	1	0	0	0	15887	1232	43	4	2048	4	TIAM1	21	32554842	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	4247872	32554842	15575053	291	291										
TMPRSS2	7113	hgsc.bcm.edu	37	chr21	42851153	42851153	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cggcacttgtgttcagtttcAtaaagctggtggatccgctg	12	9	2	0			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:42851153A>T	ENST00000332149.5	-	7	763	c.629T>A	c.(628-630)aTg>aAg	p.M210K	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.M247K|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.M210K	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	210	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTTCAGTTTCATAAAGCTGGT	0.353			T	"ERG, ETV1, ETV4, ETV5"	prostate																																p.M247K		Atlas-SNP	.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	.	TMPRSS2	148	.	0			c.T740A						PASS	.						146	145	146					21																	42851153		2203	4300	6503	SO:0001583	missense	7113	exon7			AGTTTCATAAAGC	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.629T>A	21.37:g.42851153A>T	ENSP00000330330:p.Met210Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137229	0.37728	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	5.43	4.25	0.50352	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.065677	0.64402	D	0.000007	T	0.62527	0.2435	M	0.72479	2.2	0.39156	D	0.962314	D;P	0.55800	0.973;0.85	P;P	0.54174	0.735;0.744	T	0.62324	-0.6878	10	0.12766	T	0.61	.	9.4178	0.38532	0.8205:0.1795:0.0:0.0	.	247;210	F8WES1;O15393	.;TMPS2_HUMAN	K	210;247;210;210;170	ENSP00000330330:M210K;ENSP00000381588:M247K;ENSP00000391216:M210K;ENSP00000389006:M210K;ENSP00000397846:M170K	ENSP00000330330:M210K	M	-	2	0	TMPRSS2	41773023	1.000000	0.71417	0.597000	0.28824	0.032000	0.12392	4.796000	0.62496	0.872000	0.35775	0.448000	0.29417	ATG	.	.	none		0.353	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			T	42851153	A	T	42851153	3	4	1	1	0	0	0	0	1	0	0	0	16244	217	8	5	881	5	TMPRSS2	21	42851153	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	10296311	42851153	5278742	292	292										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970771	45970771	+	Missense_Mutation	SNP	C	C	T													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gcagatggacttgcagcagaCaggcttgcagcagacggaca					rs200215960|rs67692969|rs71199610	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:45970771C>T	ENST00000391621.1	-	1	617	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	191	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TTGCAGCAGACAGGCTTGCAG	0.612																																					p.V191I		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.G571A						PASS	.						114	116	115					21																	45970771		2203	4299	6502	SO:0001583	missense	386679	exon1			AGCAGACAGGCTT	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.571G>A	21.37:g.45970771C>T	ENSP00000375479:p.Val191Ile	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	125	12	0.096	NM_198693	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	c	9.177	1.022646	0.19433	.	.	ENSG00000205445	ENST00000391621	T	0.01430	4.9	3.28	-6.57	0.01842	.	.	.	.	.	T	0.01627	0.0052	L	0.60904	1.88	0.09310	N	1	B	0.22604	0.072	B	0.26614	0.071	T	0.44697	-0.9311	9	0.62326	D	0.03	.	3.2055	0.06665	0.2595:0.2667:0.3822:0.0916	.	191	P60368	KR102_HUMAN	I	191	ENSP00000375479:V191I	ENSP00000375479:V191I	V	-	1	0	KRTAP10-2	44795199	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.395000	0.02516	-1.216000	0.02607	0.462000	0.41574	GTC	C|0.956;T|0.044	0.044	strong		0.612	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45970771	C	T	45970771	3	4	1	1	0	0	0	0	1	0	0	0	8509	478	17	2	200	2	KRTAP10-2	21	45970771	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3119618	45970771	2159124	293	293	8	3								
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970772	45970772	+	Silent	SNP	A	A	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cagatggacttgcagcagacAggcttgcagcagacggacac					rs76021731|rs67692969|rs71199610	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																					p.P190P		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.T570C						PASS	.						111	112	112					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679	exon1			GCAGACAGGCTTG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570T>C	21.37:g.45970772A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	120	14	0.116667	NM_198693	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			A|0.908;G|0.092	0.092	strong		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45970772	A	G	45970772	2	3	1	1	0	0	0	0	0	0	0	1	8509	175	7	3		3	KRTAP10-2	21	45970772	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	1	45970772	2159123	294	294	8	3								
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gatggacttgcagcagacagGcttgcagcagacggacacac					rs76536096|rs67692969|rs71199610	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																					p.P190S		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.C568T						PASS	.						110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679	exon1			AGACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	119	12	0.10084	NM_198693	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT	G|0.917;A|0.083	0.083	strong		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	1	1	0	0	0	0	1	0	0	0	8509	1203	42	2	203	2	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2	45970774	2159121	295	295	8	3								
SLC19A1	6573	hgsc.bcm.edu	37	chr21	46935613	46935613	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	accgtcgcttggaagacactGcaaacccagcttgctgacac	9	14	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr21:46935613G>A	ENST00000311124.4	-	6	1887	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.Q539*|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000468508.1_5'Flank	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	579					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGAAGACACTGCAAACCCAGC	0.612																																					p.Q579X		Atlas-SNP	.											.	SLC19A1	53	.	0			c.C1735T						PASS	.						68	65	66					21																	46935613		2203	4300	6503	SO:0001587	stop_gained	6573	exon6			GACACTGCAAACC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1735C>T	21.37:g.46935613G>A	ENSP00000308895:p.Gln579*	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_194255	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Nonsense_Mutation	SNP	ENST00000311124.4	37	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905088	0.92035	.	.	ENSG00000173638	ENST00000311124;ENST00000485649	.	.	.	2.8	-1.34	0.09143	.	.	.	.	.	.	.	.	.	.	.	0.30402	N	0.779886	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3474	0.21357	0.5305:0.0:0.4695:0.0	.	.	.	.	X	579;539	.	ENSP00000308895:Q579X	Q	-	1	0	SLC19A1	45760041	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.359000	0.02602	-0.337000	0.08426	0.467000	0.42956	CAG	.	.	none		0.612	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			A	46935613	G	A	46935613	4	1	1	1	0	0	0	0	0	1	0	0	14428	1328	46	2	44	2	SLC19A1	21	46935613	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	964839	46935613	1194282	296	296										
PI4KA	5297	hgsc.bcm.edu	37	chr22	21167787	21167787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agggcagtcccatcgggcaaGcaggaggctggtgggagata	18	8	0	1	rs165854	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:21167787G>A	ENST00000572273.1	-	8	920	c.690C>T	c.(688-690)tgC>tgT	p.C230C	PI4KA_ENST00000255882.6_Silent_p.C288C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	230					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.C230C(1)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCGGGCAAGCAGGAGGCTG	0.522													G|||	2461	0.491414	0.6036	0.5144	5008	,	,		16352	0.5486		0.4254	False		,,,				2504	0.3323				p.C288C	GBM(136;1332 1831 3115 23601 50806)	Atlas-SNP	.											PI4KA_ENST00000255882,NS,carcinoma,0,1	PI4KA	313	1	1	Substitution - coding silent(1)	stomach(1)	c.C864T						scavenged	.	G		2509,1897	628.1+/-395.0	717,1075,411	58	60	59		690	5.3	0.1	22	dbSNP_79	59	3494,5106	510.8+/-377.6	718,2058,1524	no	coding-synonymous	PI4KA	NM_058004.3		1435,3133,1935	AA,AG,GG		40.6279,43.0549,46.1556		230/2045	21167787	6003,7003	2203	4300	6503	SO:0001819	synonymous_variant	5297	exon8			GGGCAAGCAGGAG	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.690C>T	22.37:g.21167787G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	117	3	0.025641	NM_058004	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																				G|0.526;A|0.474	0.474	strong		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21167787	G	A	21167787	2	1	1	1	0	0	0	0	0	0	0	1	11873	963	34	2		2	PI4KA	22	21167787	Silent	SNP	G	TCGA-FA-8693-01A-11D-2397-10		21167787	30136779	297	297										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230283	23230283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgagacccctgaggagctggGccctggtcccaggcagcgct	15	14	0	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:23230283G>A	ENST00000526893.1	+	1	324	c.50G>A	c.(49-51)gGc>gAc	p.G17D	IGLL5_ENST00000531372.1_Missense_Mutation_p.G17D|IGLL5_ENST00000532223.2_Missense_Mutation_p.G17D|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	17						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGGAGCTGGGCCCTGGTCCC	0.672																																					p.G17D		Atlas-SNP	.											.	IGLL5	26	.	0			c.G50A						PASS	.																																			SO:0001583	missense	100423062	exon1			AGCTGGGCCCTGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.50G>A	22.37:g.23230283G>A	ENSP00000431254:p.Gly17Asp	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	142	38	0.267606	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455202	0.26161	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00614	6.21;6.22	3.24	-0.78	0.10969	.	.	.	.	.	T	0.00580	0.0019	L	0.29908	0.895	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.45425	-0.9262	9	0.52906	T	0.07	.	3.2568	0.06835	0.325:0.2123:0.4627:0.0	.	17	B9A064	IGLL5_HUMAN	D	17	ENSP00000436353:G17D;ENSP00000431254:G17D	ENSP00000431254:G17D	G	+	2	0	IGLL5	21560283	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.154000	0.16343	-0.051000	0.13334	0.643000	0.83706	GGC	.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230283	G	A	23230283	3	1	1	1	0	0	0	0	1	0	0	0	7594	1203	42	2	52	2	IGLL5	22	23230283	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	2062496	23230283	28074283	298	298			2	2		4	3	122	N	G_C_A	6.767602e-07
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230315	23230315	+	Silent	SNP	C	C	T													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ggcagcgctggcccctgctgCtgctgggtctggccatggtc					rs148489860	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:23230315C>T	ENST00000526893.1	+	1	356	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	IGLL5_ENST00000531372.1_Silent_p.L28L|IGLL5_ENST00000532223.2_Silent_p.L28L|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	28						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCCCCTGCTGCTGCTGGGTCT	0.662													C|||	11	0.00219649	0.0045	0.0	5008	,	,		12566	0.003		0.001	False		,,,				2504	0.001				p.L28L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C82T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			CTGCTGCTGCTGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.82C>T	22.37:g.23230315C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			C|1.000;T|0.000	0.000	strong		0.662	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230315	C	T	23230315	2	4	1	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230315	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	32	23230315	28074251	299	299	9	2	2	2		4	3	122	N	G_C_A	6.767602e-07
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230318	23230318	+	Missense_Mutation	SNP	C	C	G													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	agcgctggcccctgctgctgCtgggtctggccatggtcgcc					rs567537853		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:23230318C>G	ENST00000526893.1	+	1	359	c.85C>G	c.(85-87)Ctg>Gtg	p.L29V	IGLL5_ENST00000531372.1_Missense_Mutation_p.L29V|IGLL5_ENST00000532223.2_Missense_Mutation_p.L29V|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	29						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTGCTGCTGCTGGGTCTGGC	0.657																																					p.L29V		Atlas-SNP	.											.	IGLL5	26	.	0			c.C85G						PASS	.																																			SO:0001583	missense	100423062	exon1			CTGCTGCTGGGTC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.85C>G	22.37:g.23230318C>G	ENSP00000431254:p.Leu29Val	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	62	18	0.290323	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347544	0.61183	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00717	5.79;5.8	3.82	3.82	0.43975	.	.	.	.	.	T	0.02193	0.0068	L	0.32530	0.975	0.24893	N	0.992151	D	0.76494	0.999	D	0.75484	0.986	T	0.54159	-0.8335	9	0.66056	D	0.02	.	11.5007	0.50435	0.0:1.0:0.0:0.0	.	29	B9A064	IGLL5_HUMAN	V	29	ENSP00000436353:L29V;ENSP00000431254:L29V	ENSP00000431254:L29V	L	+	1	2	IGLL5	21560318	0.000000	0.05858	0.815000	0.32552	0.079000	0.17450	0.026000	0.13599	2.423000	0.82170	0.643000	0.83706	CTG	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		G	23230318	C	G	23230318	3	3	1	1	0	0	0	0	1	0	0	0	7594	796	28	4	87	4	IGLL5	22	23230318	Missense_Mutation	SNP	C	TCGA-FA-8693-01A-11D-2397-10	3	23230318	28074248	300	300	9	2	2	2		4	3	122	N	G_C_A	6.767602e-07
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230404	23230404	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gaccctggagcctcagttggAagcagccgatccagcctgcg	13	14	1	0	rs115653109	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:23230404A>G	ENST00000526893.1	+	1	445	c.171A>G	c.(169-171)ggA>ggG	p.G57G	IGLL5_ENST00000531372.1_Silent_p.G57G|IGLL5_ENST00000532223.2_Silent_p.G57G|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	57						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCAGTTGGAAGCAGCCGAT	0.662													A|||	2	0.000399361	0.0015	0.0	5008	,	,		10542	0.0		0.0	False		,,,				2504	0.0				p.E22G		Atlas-SNP	.											.	IGLL5	26	.	0			c.A65G						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			AGTTGGAAGCAGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.171A>G	22.37:g.23230404A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	59	14	0.237288	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			A|0.999;G|0.001	0.001	strong		0.662	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		G	23230404	A	G	23230404	2	3	1	1	0	0	0	0	0	0	0	1	7594	233	9	2		2	IGLL5	22	23230404	Silent	SNP	A	TCGA-FA-8693-01A-11D-2397-10	86	23230404	28074162	301	301			2	2		4	3	122	N	G_C_A	6.767602e-07
C22orf43	51233	hgsc.bcm.edu	37	chr22	23956338	23956340	+	In_Frame_Del	DEL	TCT	TCT	-													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ttacgtggatgtcatcatcaTcttcttcttcttcatctttg					rs117546628	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:23956338_23956340delTCT	ENST00000317749.5	-	9	900_902	c.603_605delAGA	c.(601-606)gaagat>gat	p.E201del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		201	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTCATCATCATCTTCTTCTTCTT	0.384																																					p.202_202del		Pindel,Atlas-Indel	.											.	C22orf43	18	.	0			c.604_606del						PASS	.																																			SO:0001651	inframe_deletion	51233	exon9			.																												ENST00000317749.5:c.603_605delAGA	22.37:g.23956347_23956349delTCT	ENSP00000316137:p.Glu201del	Somatic	236	.	.		WXS	Illumina HiSeq	Phase_I	306	52	0.17	NM_016449	Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	CCDS42985.1																																																																																			.	.	none		0.384	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			-	23956340	TCT	-	23956338	7	5	1	1	0	1	0	1	0	0	0	0	2150	1435	50	0	100	0	C22orf43	22	23956338	In_Frame_Del	DEL	TCT	TCGA-FA-8693-01A-11D-2397-10	725934	23956338	27348228	302	302										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885823	29885823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	cagtgaaggaagaagcaaagAcccccgagaaggccaagtcc	12	11	0	4	rs145125701		TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:29885823A>T	ENST00000310624.6	+	4	2227	c.2194A>T	c.(2194-2196)Acc>Tcc	p.T732S		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	738	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGCAAAGACCCCCGAGAA	0.542																																					p.T732S		Atlas-SNP	.											NEFH,NS,lymphoid_neoplasm,0,2	NEFH	178	2	0			c.A2194T						scavenged	.						105	109	108					22																	29885823		2203	4300	6503	SO:0001583	missense	4744	exon4			GCAAAGACCCCCG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2194A>T	22.37:g.29885823A>T	ENSP00000311997:p.Thr732Ser	Somatic	189	4	0.021164		WXS	Illumina HiSeq	Phase_I	231	7	0.030303	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.519686	0.00010	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	T	0.80033	-1.33	3.79	0.344	0.16006	.	0.265420	0.27315	N	0.019939	T	0.34803	0.0910	N	0.00185	-1.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50939	-0.8768	10	0.02654	T	1	.	4.2709	0.10785	0.1831:0.1132:0.0:0.7037	.	738	P12036	NFH_HUMAN	S	732	ENSP00000311997:T732S	ENSP00000311997:T732S	T	+	1	0	NEFH	28215823	0.000000	0.05858	0.661000	0.29709	0.007000	0.05969	-2.683000	0.00835	-0.106000	0.12110	-2.653000	0.00148	ACC	.	.	weak		0.542	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885823	A	T	29885823	3	4	1	1	0	0	0	0	1	0	0	0	10314	275	10	5	2208	5	NEFH	22	29885823	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	5929485	29885823	21418743	303	303										
RFPL3	10738	hgsc.bcm.edu	37	chr22	32754250	32754250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	accgtctgcctcaagtgcatCaattcgctgcagaaggagcc	10	13	3	1	rs376474772	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:32754250C>T	ENST00000249007.4	+	1	397	c.192C>T	c.(190-192)atC>atT	p.I64I	RFPL3_ENST00000382088.3_Silent_p.I35I|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Silent_p.I35I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	64							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCAAGTGCATCAATTCGCTGC	0.532													c|||	6	0.00119808	0.0038	0.0014	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.0				p.I64I		Atlas-SNP	.											RFPL3_ENST00000249007,NS,carcinoma,+2,2	RFPL3	91	2	0			c.C192T						scavenged	.						122	115	117					22																	32754250		2203	4300	6503	SO:0001819	synonymous_variant	10738	exon1			GTGCATCAATTCG	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.192C>T	22.37:g.32754250C>T		Somatic	326	3	0.00920245		WXS	Illumina HiSeq	Phase_I	321	10	0.0311526	NM_001098535	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	CCDS43011.1																																																																																			.	.	weak		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		T	32754250	C	T	32754250	2	4	1	1	0	0	0	0	0	0	0	1	13255	816	29	2		2	RFPL3	22	32754250	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	2868427	32754250	18550316	304	304										
TTLL1	25809	hgsc.bcm.edu	37	chr22	43447891	43447891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgcttgtcattgttcatcacCggctggagagagagtgacca	12	9	3	3	rs9607998	byFrequency	TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:43447891C>T	ENST00000266254.7	-	9	1134	c.894G>A	c.(892-894)ccG>ccA	p.P298P	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Intron	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	298	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTTCATCACCGGCTGGAGAG	0.577													C|||	78	0.0155751	0.0068	0.0216	5008	,	,		21914	0.0		0.0497	False		,,,				2504	0.0041				p.P298P		Atlas-SNP	.											TTLL1,NS,carcinoma,-2,1	TTLL1	41	1	0			c.G894A						scavenged	.	C		46,4360	48.2+/-83.0	3,40,2160	263	185	212		894	-3.7	1	22	dbSNP_119	212	419,8181	130.0+/-188.0	10,399,3891	no	coding-synonymous	TTLL1	NM_012263.4		13,439,6051	TT,TC,CC		4.8721,1.044,3.5753		298/424	43447891	465,12541	2203	4300	6503	SO:0001819	synonymous_variant	25809	exon9			CATCACCGGCTGG	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.894G>A	22.37:g.43447891C>T		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	210	6	0.0285714	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	52	0.023809523809523808	6	0.012195121951219513	10	0.027624309392265192	0	0.0	36	0.047493403693931395	C	9.531	1.110796	0.20714	0.01044	0.048721	ENSG00000100271	ENST00000495814	.	.	.	5.97	-3.65	0.04502	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	.	0.9386	0.01351	0.3008:0.1773:0.3147:0.2072	rs9607998;rs52827145;rs9607998	.	.	.	Q	224	.	.	R	-	2	0	TTLL1	41777835	0.001000	0.12720	0.987000	0.45799	0.774000	0.43823	-1.617000	0.02051	-0.307000	0.08804	-0.126000	0.14955	CGG	C|0.971;T|0.029	0.029	strong		0.577	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		T	43447891	C	T	43447891	2	4	1	1	0	0	0	0	0	0	0	1	16719	639	23	1		1	TTLL1	22	43447891	Silent	SNP	C	TCGA-FA-8693-01A-11D-2397-10	10693641	43447891	7856675	305	305										
SCUBE1	80274	hgsc.bcm.edu	37	chr22	43600118	43600118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	tgaagtagttctggggatgcGccagcacgtcgaagagggcc	16	9	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:43600118G>A	ENST00000360835.4	-	22	2978	c.2852C>T	c.(2851-2853)gCg>gTg	p.A951V		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	951					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGGGATGCGCCAGCACGTC	0.567																																					p.A951V		Atlas-SNP	.											.	SCUBE1	105	.	0			c.C2852T						PASS	.						157	140	146					22																	43600118		2203	4300	6503	SO:0001583	missense	80274	exon22			GGATGCGCCAGCA		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2852C>T	22.37:g.43600118G>A	ENSP00000354080:p.Ala951Val	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	192	46	0.239583	NM_173050	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082468	0.94050	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.88586	-2.4	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92328	0.5871	10	0.87932	D	0	.	16.5437	0.84408	0.0:0.0:1.0:0.0	.	951	Q8IWY4	SCUB1_HUMAN	V	951;581	ENSP00000354080:A951V	ENSP00000354080:A951V	A	-	2	0	SCUBE1	41930062	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	9.514000	0.98013	2.204000	0.70986	0.591000	0.81541	GCG	.	.	none		0.567	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43600118	G	A	43600118	3	1	1	1	0	0	0	0	1	0	0	0	13944	1087	38	1	118	1	SCUBE1	22	43600118	Missense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	152227	43600118	7704448	306	306										
BRD1	23774	hgsc.bcm.edu	37	chr22	50170766	50170766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtcctccagcgtgtgccgtcGcacaagagccggtttgcccc	12	16	0	1			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chr22:50170766G>A	ENST00000216267.8	-	9	3130	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	BRD1_ENST00000404034.1_Nonsense_Mutation_p.R882*|BRD1_ENST00000542442.1_Nonsense_Mutation_p.R570*|BRD1_ENST00000457780.2_Silent_p.C985C|BRD1_ENST00000342989.5_Nonsense_Mutation_p.R608*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.R1013*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	882					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGTGCCGTCGCACAAGAGCC	0.652																																					p.R882X		Atlas-SNP	.											BRD1_ENST00000342989,NS,carcinoma,+1,2	BRD1	144	2	0			c.C2644T						scavenged	.						75	75	75					22																	50170766		2203	4300	6503	SO:0001587	stop_gained	23774	exon9			GCCGTCGCACAAG	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2644C>T	22.37:g.50170766G>A	ENSP00000216267:p.Arg882*	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	161	4	0.0248447	NM_014577	A6ZJA4	Nonsense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	39	7.353829	0.98231	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.245	0.89982	0.0:0.0:1.0:0.0	.	.	.	.	X	882;882;1013;570;608;473	.	ENSP00000216267:R882X	R	-	1	2	BRD1	48556770	1.000000	0.71417	0.975000	0.42487	0.847000	0.48162	7.293000	0.78740	2.300000	0.77407	0.655000	0.94253	CGA	.	.	none		0.652	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		A	50170766	G	A	50170766	4	1	1	1	0	0	0	0	0	1	0	0	1501	1095	38	1	548	1	BRD1	22	50170766	Nonsense_Mutation	SNP	G	TCGA-FA-8693-01A-11D-2397-10	6570648	50170766	1133800	307	307										
EGFL6	25975	hgsc.bcm.edu	37	chrX	13636081	13636082	+	Frame_Shift_Ins	INS	-	-	A													0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	gtaaaaaagggaatgaagagINSaaaatgaaagaggggcttga							TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chrX:13636081_13636082insA	ENST00000361306.1	+	8	1268_1269	c.1011_1012insA	c.(1012-1014)aaafs	p.K338fs	EGFL6_ENST00000380602.3_Frame_Shift_Ins_p.K338fs	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	338					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GGAATGAAGAGAAAATGAAAGA	0.465																																					p.E337fs		Pindel,Atlas-Indel	.											.	EGFL6	111	.	0			c.1011_1012insA						PASS	.																																			SO:0001589	frameshift_variant	25975	exon8			.	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1015dupA	X.37:g.13636085_13636085dupA	ENSP00000355126:p.Lys338fs	Somatic	74	.	.		WXS	Illumina HiSeq	Phase_I	79	22	0.278	NM_001167890	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Frame_Shift_Ins	INS	ENST00000361306.1	37	CCDS14155.1																																																																																			.	.	none		0.465	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		A	13636082	-	A	13636081	7	5	1	1	0	1	1	0	0	0	0	0	4963	933	33	0	1041	0	EGFL6	23	13636081	Frame_Shift_Ins	INS	-	TCGA-FA-8693-01A-11D-2397-10		13636081	141634479	308	308										
CPXCR1	53336	hgsc.bcm.edu	37	chrX	88008609	88008609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0234113712374582	7	1	0.442926491711838	0.535730137594319	0.430497431995435	0.0634674922600621	0.200166706358657	0	ccaggaagatgttgttcctcAagcagcagaaaacagcgagc	11	10	1	2			TCGA-FA-8693-01A-11D-2397-10	TCGA-FA-8693-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	62ff5bc5-21ea-47e2-bade-812ba5a9d8a2	9800e9ed-3710-40d0-b01e-c5ee272234c7	g.chrX:88008609A>G	ENST00000276127.4	+	3	453	c.194A>G	c.(193-195)cAa>cGa	p.Q65R	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q65R	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	65							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GTTGTTCCTCAAGCAGCAGAA	0.463																																					p.Q65R		Atlas-SNP	.											.	CPXCR1	83	.	0			c.A194G						PASS	.						44	42	43					X																	88008609		2203	4300	6503	SO:0001583	missense	53336	exon3			TTCCTCAAGCAGC	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.194A>G	X.37:g.88008609A>G	ENSP00000276127:p.Gln65Arg	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	57	17	0.298246	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	9.947	1.219144	0.22373	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.32515	1.45;1.45	3.43	2.22	0.28083	.	0.415062	0.17767	N	0.162708	T	0.28699	0.0711	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.54174	0.744	T	0.06092	-1.0846	9	.	.	.	.	5.9873	0.19442	0.7342:0.2658:0.0:0.0	.	65	Q8N123	CPXCR_HUMAN	R	65	ENSP00000276127:Q65R;ENSP00000362203:Q65R	.	Q	+	2	0	CPXCR1	87895265	0.000000	0.05858	0.004000	0.12327	0.089000	0.18198	-0.008000	0.12788	0.511000	0.28236	-0.387000	0.06579	CAA	.	.	none		0.463	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		G	88008609	A	G	88008609	3	3	1	1	0	0	0	0	1	0	0	0	3836	130	5	2	196	2	CPXCR1	23	88008609	Missense_Mutation	SNP	A	TCGA-FA-8693-01A-11D-2397-10	74372528	88008609	67261951	309	309										
TNFRSF14	8764	hgsc.bcm.edu	37	chr1	2494626	2494626	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaggtgaggccacagtcattGaggccctgcaggcccctccg	13	14	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:2494626G>C	ENST00000355716.4	+	8	1065	c.766G>C	c.(766-768)Gag>Cag	p.E256Q		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	256					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|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;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CACAGTCATTGAGGCCCTGCA	0.627			"Mis, N, F"		follicular lymphoma																																p.E256Q		Atlas-SNP	.		Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	.	TNFRSF14	89	.	0			c.G766C						PASS	.						120	103	109					1																	2494626		2203	4300	6503	SO:0001583	missense	8764	exon8			GTCATTGAGGCCC	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.766G>C	1.37:g.2494626G>C	ENSP00000347948:p.Glu256Gln	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_003820	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.662888	0.00772	.	.	ENSG00000157873	ENST00000355716	D	0.86865	-2.18	1.85	-0.23	0.13090	.	.	.	.	.	T	0.68384	0.2995	N	0.04508	-0.205	0.09310	N	1	B	0.24576	0.106	B	0.10450	0.005	T	0.54944	-0.8217	9	0.26408	T	0.33	1.2888	7.7934	0.29133	0.0:0.6123:0.3877:0.0	.	256	Q92956	TNR14_HUMAN	Q	256	ENSP00000347948:E256Q	ENSP00000347948:E256Q	E	+	1	0	TNFRSF14	2479792	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	0.441000	0.21611	-0.044000	0.13491	-0.304000	0.09214	GAG	.	.	none		0.627	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			C	2494626	G	C	2494626	3	2	2	1	0	0	0	0	1	0	0	0	16286	1291	45	4	796	4	TNFRSF14	1	2494626	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		2494626	246755995	1	310										
PER3	8863	hgsc.bcm.edu	37	chr1	7887248	7887248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cacaagcggaagaagctgccGgagccgccagacagcagcag	14	13	0	2	rs2859387	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:7887248G>A	ENST00000361923.2	+	17	2410	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	PER3_ENST00000377532.3_Silent_p.P753P|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	745	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCTGCCGGAGCCGCCAG	0.632													G|||	2588	0.516773	0.5333	0.4597	5008	,	,		14514	0.8026		0.3718	False		,,,				2504	0.3896				p.P745P		Atlas-SNP	.											PER3,NS,carcinoma,+1,1	PER3	95	1	0			c.G2235A						scavenged	.	G		2207,2153		589,1029,562	21	26	24		2235	-8.8	0	1	dbSNP_100	24	3035,5501		587,1861,1820	no	coding-synonymous	PER3	NM_016831.1		1176,2890,2382	AA,AG,GG		35.5553,49.3807,40.6483		745/1202	7887248	5242,7654	2180	4268	6448	SO:0001819	synonymous_variant	8863	exon17			GCTGCCGGAGCCG	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2235G>A	1.37:g.7887248G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	82	3	0.0365854	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	CCDS89.1																																																																																			G|0.567;A|0.433	0.433	strong		0.632	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		A	7887248	G	A	7887248	2	1	2	1	0	0	0	0	0	0	0	1	11731	1103	39	1		1	PER3	1	7887248	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	5392622	7887248	241363373	2	311										
CLCN6	1185	hgsc.bcm.edu	37	chr1	11879572	11879572	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tctttgtggacttttttgtgCgactcttcacccaactcaag	7	11	4	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:11879572C>T	ENST00000346436.6	+	5	359	c.307C>T	c.(307-309)Cga>Tga	p.R103*	CLCN6_ENST00000376496.3_Nonsense_Mutation_p.R103*|CLCN6_ENST00000376487.3_Nonsense_Mutation_p.R81*|CLCN6_ENST00000376497.3_Nonsense_Mutation_p.R103*|CLCN6_ENST00000312413.6_Nonsense_Mutation_p.R103*|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	103					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTTTGTGCGACTCTTCAC	0.463																																					p.R103X		Atlas-SNP	.											CLCN6,NS,carcinoma,-1,1	CLCN6	77	1	0			c.C307T						scavenged	.						297	249	266					1																	11879572		2203	4300	6503	SO:0001587	stop_gained	1185	exon5			TTTGTGCGACTCT	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.307C>T	1.37:g.11879572C>T	ENSP00000234488:p.Arg103*	Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	98	7	0.0714286	NM_001286	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Nonsense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418281	0.96092	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	.	.	.	5.34	5.34	0.76211	.	0.222897	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.8753	18.3846	0.90463	0.0:1.0:0.0:0.0	.	.	.	.	X	103;103;103;81;103;103;103;103	.	ENSP00000308367:R103X	R	+	1	2	CLCN6	11802159	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.617000	0.67716	2.651000	0.90000	0.655000	0.94253	CGA	.	.	none		0.463	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		T	11879572	C	T	11879572	4	4	2	1	0	0	0	0	0	1	0	0	3467	760	27	1	325	1	CLCN6	1	11879572	Nonsense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	3992324	11879572	237371049	3	312										
SPEN	23013	hgsc.bcm.edu	37	chr1	16235856	16235856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	caagtgatgattctccagctCgatcagttcagtctgcagca	9	11	4	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:16235856C>T	ENST00000375759.3	+	4	1126	c.922C>T	c.(922-924)Cga>Tga	p.R308*	snoU13_ENST00000459258.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	308	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTCCAGCTCGATCAGTTCA	0.443																																					p.R308X		Atlas-SNP	.											SPEN,NS,carcinoma,0,2	SPEN	374	2	0			c.C922T						PASS	.						147	147	147					1																	16235856		2203	4300	6503	SO:0001587	stop_gained	23013	exon4			CCAGCTCGATCAG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.922C>T	1.37:g.16235856C>T	ENSP00000364912:p.Arg308*	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	23	0.239583	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154147	0.78114	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8431	17.6753	0.88229	0.0:1.0:0.0:0.0	.	.	.	.	X	308;267;267	.	ENSP00000364906:R267X	R	+	1	2	SPEN	16108443	0.997000	0.39634	0.999000	0.59377	0.826000	0.46750	3.632000	0.54287	2.615000	0.88500	0.655000	0.94253	CGA	.	.	none		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16235856	C	T	16235856	4	4	2	1	0	0	0	0	0	1	0	0	15037	876	31	1	936	1	SPEN	1	16235856	Nonsense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	4356284	16235856	233014765	4	313										
KCNQ4	9132	hgsc.bcm.edu	37	chr1	41300690	41300690	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttcaaggagacactgcgaccGtacgacgtgaaggacgtcat	12	10	2	2	rs55964611	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:41300690G>T	ENST00000347132.5	+	12	1747	c.1665G>T	c.(1663-1665)ccG>ccT	p.P555P	KCNQ4_ENST00000509682.2_Silent_p.P501P|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	555	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CACTGCGACCGTACGACGTGA	0.577																																					p.P555P		Atlas-SNP	.											KCNQ4,colon,carcinoma,+1,1	KCNQ4	58	1	0			c.G1665T						scavenged	.						126	111	116					1																	41300690		2203	4300	6503	SO:0001819	synonymous_variant	9132	exon12			GCGACCGTACGAC	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1665G>T	1.37:g.41300690G>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_004700	O96025	Silent	SNP	ENST00000347132.5	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	6.858	0.527646	0.13127	.	.	ENSG00000117013	ENST00000443478	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48980	-0.8986	4	.	.	.	-16.1176	3.1599	0.06516	0.2055:0.2654:0.3752:0.1539	.	.	.	.	L	416	.	.	V	+	1	0	KCNQ4	41073277	0.000000	0.05858	0.129000	0.21949	0.974000	0.67602	-5.980000	0.00087	-3.636000	0.00128	-1.535000	0.00915	GTA	G|0.974;A|0.026	.	alt		0.577	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		T	41300690	G	T	41300690	2	4	2	1	0	0	0	0	0	0	0	1	8085	1132	40	4		4	KCNQ4	1	41300690	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	25064834	41300690	207949931	5	314										
LRIG2	9860	hgsc.bcm.edu	37	chr1	113655236	113655236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tggtggtactgactttcctgCggctcgagaaagacgcatgc	13	10	0	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:113655236C>T	ENST00000361127.5	+	14	2132	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	645	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GACTTTCCTGCGGCTCGAGAA	0.493																																					p.A645V		Atlas-SNP	.											LRIG2,NS,lymphoid_neoplasm,0,1	LRIG2	67	1	0			c.C1934T						scavenged	.						140	125	130					1																	113655236		2203	4300	6503	SO:0001583	missense	9860	exon14			TTCCTGCGGCTCG	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1934C>T	1.37:g.113655236C>T	ENSP00000355396:p.Ala645Val	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	70	3	0.0428571	NM_014813	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577687	0.96565	.	.	ENSG00000198799	ENST00000361127	T	0.77620	-1.11	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	N	0.10629	0.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80986	-0.1137	10	0.56958	D	0.05	.	19.2881	0.94087	0.0:1.0:0.0:0.0	.	645	O94898	LRIG2_HUMAN	V	645	ENSP00000355396:A645V	ENSP00000355396:A645V	A	+	2	0	LRIG2	113456759	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	7.818000	0.86416	2.560000	0.86352	0.591000	0.81541	GCG	.	.	none		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113655236	C	T	113655236	3	4	2	1	0	0	0	0	1	0	0	0	8945	768	27	1	1988	1	LRIG2	1	113655236	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	72354546	113655236	135595385	6	315										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120458147	120458147	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	accactgtgactgggtgttcGctcagcagcatttgaggaag	13	9	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:120458147G>A	ENST00000256646.2	-	34	7417	c.7198C>T	c.(7198-7200)Cga>Tga	p.R2400*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2400					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R2400*(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGGTGTTCGCTCAGCAGCA	0.562			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.R2400X		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2,NS,lymphoid_neoplasm,0,26	NOTCH2	348	26	4	Substitution - Nonsense(4)	haematopoietic_and_lymphoid_tissue(3)|breast(1)	c.C7198T						scavenged	.						126	109	115					1																	120458147		2203	4300	6503	SO:0001587	stop_gained	4853	exon34	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GTGTTCGCTCAGC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7198C>T	1.37:g.120458147G>A	ENSP00000256646:p.Arg2400*	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	53	17	0.320755	NM_024408	Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.010061	0.99775	.	.	ENSG00000134250	ENST00000256646	.	.	.	5.35	4.43	0.53597	.	0.000000	0.30695	U	0.009069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.2534	0.54611	0.0:0.0:0.6765:0.3235	.	.	.	.	X	2400	.	ENSP00000256646:R2400X	R	-	1	2	NOTCH2	120259670	0.616000	0.27035	1.000000	0.80357	0.996000	0.88848	0.360000	0.20250	1.224000	0.43551	0.591000	0.81541	CGA	.	.	none		0.562	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120458147	G	A	120458147	4	1	2	1	0	0	0	0	0	1	0	0	10548	1095	38	1	221	1	NOTCH2	1	120458147	Nonsense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	6802911	120458147	128792474	7	316										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145304529	145304529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cttattcaaatagccatggcTcttatgactccaaccagcca	5	13	2	1	rs57379664		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:145304529T>C	ENST00000369339.3	+	7	902	c.649T>C	c.(649-651)Tct>Cct	p.S217P	NBPF10_ENST00000369338.1_Missense_Mutation_p.S217P|NBPF10_ENST00000342960.5_Missense_Mutation_p.S488P|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	488	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S488P(2)|p.S217P(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAGCCATGGCTCTTATGACTC	0.468																																					p.S488P		Atlas-SNP	.											NBPF10_ENST00000369338,NS,carcinoma,0,6	NBPF10	221	6	4	Substitution - Missense(4)	kidney(4)	c.T1462C						scavenged	.																																			SO:0001583	missense	100132406	exon10			CATGGCTCTTATG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.649T>C	1.37:g.145304529T>C	ENSP00000358345:p.Ser217Pro	Somatic	83	15	0.180723		WXS	Illumina HiSeq	Phase_I	87	23	0.264368	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.687902	0.00100	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.05580	3.42;3.42	0.811	-1.62	0.08372	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	8	0.02654	T	1	.	2.7867	0.05376	0.0:0.3083:0.2528:0.4389	.	217	A8MQ30	.	P	413;217;217;488	ENSP00000358344:S217P;ENSP00000345684:S488P	ENSP00000345684:S488P	S	+	1	0	NBPF10	144015886	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.482000	0.00981	-1.752000	0.01325	-0.883000	0.02948	TCT	T|0.625;C|0.375	0.375	strong		0.468	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		C	145304529	T	C	145304529	3	2	2	1	0	0	0	0	1	0	0	0	10193	1551	54	3	1500	3	NBPF10	1	145304529	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	24846382	145304529	103946092	8	317										
MTMR11	10903	hgsc.bcm.edu	37	chr1	149906097	149906097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggatcacctggtggctacgtCgaacctctcgttgaccgtgc	12	13	2	1	rs143590446	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:149906097C>T	ENST00000439741.2	-	7	920	c.670G>A	c.(670-672)Gac>Aac	p.D224N	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D152N|MTMR11_ENST00000361405.6_Missense_Mutation_p.D224N|MTMR11_ENST00000406732.3_Missense_Mutation_p.D196N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGCTACGTCGAACCTCTCG	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		18552	0.002		0.0	False		,,,				2504	0.0				p.D224N		Atlas-SNP	.											.	MTMR11	136	.	0			c.G670A						PASS	.	C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	100	95	97		670,454	6.1	1	1	dbSNP_134	97	0,8600		0,0,4300	yes	missense,missense	MTMR11	NM_001145862.1,NM_181873.3	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	224/710,152/641	149906097	1,13005	2203	4300	6503	SO:0001583	missense	10903	exon7			CTACGTCGAACCT	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.670G>A	1.37:g.149906097C>T	ENSP00000391668:p.Asp224Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	52	11	0.211538	NM_001145862	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.0	4.483644	0.84854	2.27E-4	0.0	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732;ENST00000405710	D;D;T;D	0.92595	-3.07;-2.67;0.88;-3.07	6.07	6.07	0.98685	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.054950	0.64402	D	0.000001	D	0.91788	0.7402	N	0.24115	0.695	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.977;0.984;0.984;0.991	D	0.91383	0.5129	10	0.40728	T	0.16	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	66;196;152;224	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	N	152;224;224;196;66	ENSP00000358136:D152N;ENSP00000391668:D224N;ENSP00000354941:D224N;ENSP00000383948:D196N	ENSP00000354941:D224N	D	-	1	0	MTMR11	148172721	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.244000	0.72391	2.884000	0.98904	0.655000	0.94253	GAC	C|1.000;T|0.000	0.000	strong		0.567	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		T	149906097	C	T	149906097	3	4	2	1	0	0	0	0	1	0	0	0	9940	884	31	1	1542	1	MTMR11	1	149906097	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	4601568	149906097	99344524	9	318										
FLG	2312	hgsc.bcm.edu	37	chr1	152278749	152278749	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gattgtccctggactgcctgTgagtgtctagagatgtcggc	14	9	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:152278749T>G	ENST00000368799.1	-	3	8648	c.8613A>C	c.(8611-8613)tcA>tcC	p.S2871S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2871	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACTGCCTGTGAGTGTCTAG	0.562									Ichthyosis																												p.S2871S		Atlas-SNP	.											.	FLG	900	.	0			c.A8613C						PASS	.						174	278	244					1																	152278749		2116	4297	6413	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCCTGTGAGTGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8613A>C	1.37:g.152278749T>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	110	11	0.1	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	none		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152278749	T	G	152278749	2	3	2	1	0	0	0	0	0	0	0	1	5922	1683	59	5		5	FLG	1	152278749	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	2372652	152278749	96971872	10	319										
INTS3	65123	hgsc.bcm.edu	37	chr1	153719499	153719499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcctgaataaaatcaaccagAtacttatggagaagtacctg	7	8	1	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:153719499A>G	ENST00000318967.2	+	4	953	c.385A>G	c.(385-387)Ata>Gta	p.I129V	INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.I129V|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	129					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATCAACCAGATACTTATGGA	0.448																																					p.I129V		Atlas-SNP	.											INTS3,NS,carcinoma,0,1	INTS3	83	1	0			c.A385G						PASS	.						104	105	105					1																	153719499		2203	4300	6503	SO:0001583	missense	65123	exon4			AACCAGATACTTA	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.385A>G	1.37:g.153719499A>G	ENSP00000318641:p.Ile129Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	87	11	0.126437	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750433	0.49257	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	4.82	3.68	0.42216	.	0.111158	0.64402	D	0.000015	T	0.31009	0.0783	L	0.43152	1.355	0.80722	D	1	B	0.25312	0.123	B	0.21917	0.037	T	0.28106	-1.0054	9	0.66056	D	0.02	.	9.0006	0.36079	0.6135:0.3865:0.0:0.0	.	129	Q68E01-2	.	V	129	.	ENSP00000318641:I129V	I	+	1	0	INTS3	151986123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.853000	0.48317	0.855000	0.35359	0.459000	0.35465	ATA	.	.	none		0.448	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		G	153719499	A	G	153719499	3	3	2	1	0	0	0	0	1	0	0	0	7779	333	12	2	399	2	INTS3	1	153719499	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	1440750	153719499	95531122	11	320										
FCRLB	127943	hgsc.bcm.edu	37	chr1	161695618	161695618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtgtctgtcgcagattggctGattctgcaagtgccctatgc	12	10	2	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:161695618G>A	ENST00000367948.2	+	6	530	c.315G>A	c.(313-315)ctG>ctA	p.L105L	FCRLB_ENST00000336830.5_Silent_p.L105L|FCRLB_ENST00000367945.1_Silent_p.L98L|FCRLB_ENST00000392158.1_Silent_p.L105L|FCRLB_ENST00000367944.3_Silent_p.L98L|FCRLB_ENST00000367946.3_Silent_p.L105L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	105	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAGATTGGCTGATTCTGCAAG	0.567																																					p.L105L		Atlas-SNP	.											.	FCRLB	35	.	0			c.G315A						PASS	.						118	111	113					1																	161695618		2203	4300	6503	SO:0001819	synonymous_variant	127943	exon4			TTGGCTGATTCTG	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.315G>A	1.37:g.161695618G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	56	4	0.0714286	NM_001002901	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	CCDS30927.1																																																																																			.	.	none		0.567	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		A	161695618	G	A	161695618	2	1	2	1	0	0	0	0	0	0	0	1	5801	1277	45	2		2	FCRLB	1	161695618	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	7976119	161695618	87555003	12	321										
BTG2	7832	hgsc.bcm.edu	37	chr1	203276375	203276375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agccccagctgcaccagctgCtgcccagcgagctgaccctg	11	18	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:203276375C>T	ENST00000290551.4	+	2	357	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	96					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCACCAGCTGCTGCCCAGCGA	0.642																																					p.L96L		Atlas-SNP	.											.	BTG2	16	.	0			c.C286T						PASS	.						47	49	48					1																	203276375		2203	4300	6503	SO:0001819	synonymous_variant	7832	exon2			CAGCTGCTGCCCA		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.286C>T	1.37:g.203276375C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	57	11	0.192982	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.642	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		T	203276375	C	T	203276375	2	4	2	1	0	0	0	0	0	0	0	1	1554	796	28	2		2	BTG2	1	203276375	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	41580757	203276375	45974246	13	322										
FAM72A	729533	hgsc.bcm.edu	37	chr1	206145504	206145504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tccatgtagttcctgtcttcTttcctgcaacaacggacact	6	13	2	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:206145504T>C	ENST00000367128.3	+	3	1129	c.281T>C	c.(280-282)cTt>cCt	p.L94P	FAM72A_ENST00000367129.2_Missense_Mutation_p.L94P|FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000341209.5_Missense_Mutation_p.L54P			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	94						mitochondrion (GO:0005739)		p.L94P(1)		endometrium(2)	2						TCCTGTCTTCTTTCCTGCAAC	0.383																																					p.L94P		Atlas-SNP	.											FAM72A,NS,carcinoma,0,1	FAM72A	9	1	1	Substitution - Missense(1)	endometrium(1)	c.T281C						scavenged	.						244	204	216					1																	206145504		1568	3578	5146	SO:0001583	missense	729533	exon3			GTCTTCTTTCCTG	CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.281T>C	1.37:g.206145504T>C	ENSP00000356096:p.Leu94Pro	Somatic	702	6	0.00854701		WXS	Illumina HiSeq	Phase_I	673	14	0.0208024	NM_001123168	B2RV15|Q5TYM4	Missense_Mutation	SNP	ENST00000367128.3	37	CCDS41458.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785677	0.49997	.	.	ENSG00000196550	ENST00000367129;ENST00000367128;ENST00000341209	T;T;T	0.33654	1.4;1.4;1.4	3.07	3.07	0.35406	.	0.000000	0.64402	U	0.000003	T	0.40595	0.1123	M	0.65975	2.015	0.80722	D	1	D	0.54207	0.965	P	0.47981	0.563	T	0.31052	-0.9957	10	0.35671	T	0.21	.	10.6623	0.45708	0.0:0.0:0.0:1.0	.	94	Q5TYM5	FA72A_HUMAN	P	94;94;54	ENSP00000356097:L94P;ENSP00000356096:L94P;ENSP00000340661:L54P	ENSP00000340661:L54P	L	+	2	0	FAM72A	204312127	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.652000	0.67959	1.399000	0.46721	0.254000	0.18369	CTT	.	.	weak		0.383	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			C	206145504	T	C	206145504	3	2	2	1	0	0	0	0	1	0	0	0	5614	1609	56	3	291	3	FAM72A	1	206145504	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	2869129	206145504	43105117	14	323										
KCTD3	51133	hgsc.bcm.edu	37	chr1	215759865	215759865	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gaatcttcaggatggcagcaAgtgtttacgagcccatattt	10	8	2	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:215759865A>G	ENST00000259154.4	+	9	948	c.654A>G	c.(652-654)caA>caG	p.Q218Q		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	218					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GATGGCAGCAAGTGTTTACGA	0.438																																					p.Q218Q		Atlas-SNP	.											.	KCTD3	101	.	0			c.A654G						PASS	.						145	138	140					1																	215759865		2203	4300	6503	SO:0001819	synonymous_variant	51133	exon9			GCAGCAAGTGTTT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.654A>G	1.37:g.215759865A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	98	8	0.0816327	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	CCDS1515.1																																																																																			.	.	none		0.438	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215759865	A	G	215759865	2	3	2	1	0	0	0	0	0	0	0	1	8110	69	3	3		3	KCTD3	1	215759865	Silent	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	9614361	215759865	33490756	15	324										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525639	248525639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tttcaagctcctatttactcAtcctcctcaccatccacggg	4	16	3	0	rs34079073|rs76878172	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr1:248525639A>C	ENST00000366475.1	+	1	757	c.757A>C	c.(757-759)Atc>Ctc	p.I253L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CTATTTACTCATCCTCCTCAC	0.522																																					p.I253L		Atlas-SNP	.											OR2T4,brain,glioma,0,1	OR2T4	126	1	0			c.A757C						scavenged	.						94	74	81					1																	248525639		2024	3426	5450	SO:0001583	missense	127074	exon1			TTACTCATCCTCC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757A>C	1.37:g.248525639A>C	ENSP00000355431:p.Ile253Leu	Somatic	321	4	0.0124611		WXS	Illumina HiSeq	Phase_I	311	12	0.0385852	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326339	0.41197	.	.	ENSG00000196944	ENST00000366475	T	0.00392	7.58	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01156	0.0038	H	0.94306	3.52	0.31855	N	0.621781	P	0.50156	0.932	P	0.59948	0.866	T	0.00865	-1.1535	10	0.72032	D	0.01	.	11.1471	0.48436	1.0:0.0:0.0:0.0	.	253	Q8NH00	OR2T4_HUMAN	L	253	ENSP00000355431:I253L	ENSP00000355431:I253L	I	+	1	0	OR2T4	246592262	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	7.329000	0.79170	1.264000	0.44198	0.477000	0.44152	ATC	.	.	alt		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525639	A	C	248525639	3	2	2	1	0	0	0	0	1	0	0	0	11027	217	8	5	759	5	OR2T4	1	248525639	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	32765774	248525639	724982	16	325										
NRXN1	9378	hgsc.bcm.edu	37	chr2	51254998	51254998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ctgcgcttggacttgacctcCacccacttggcctccacctg	8	18	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr2:51254998C>T	ENST00000406316.2	-	2	1890	c.414G>A	c.(412-414)gtG>gtA	p.V138V	NRXN1_ENST00000405581.1_Silent_p.V138V|NRXN1_ENST00000404971.1_Silent_p.V138V|NRXN1_ENST00000406859.3_Silent_p.V138V|NRXN1_ENST00000401669.2_Silent_p.V138V|NRXN1_ENST00000402717.3_Silent_p.V138V|NRXN1_ENST00000405472.3_Silent_p.V138V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	138	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTTGACCTCCACCCACTTGG	0.682																																					p.V138V		Atlas-SNP	.											.	NRXN1	1118	.	0			c.G414A						PASS	.						29	34	33					2																	51254998		2139	4250	6389	SO:0001819	synonymous_variant	9378	exon2			GACCTCCACCCAC	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.414G>A	2.37:g.51254998C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	53	8	0.150943	NM_004801	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			.	.	none		0.682	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	51254998	C	T	51254998	2	4	2	1	0	0	0	0	0	0	0	1	10665	581	21	2		2	NRXN1	2	51254998	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		51254998	191944375	17	326										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96810531	96810531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	caggagccctggagtcggagCggctggttttgtcccctgtt	15	11	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr2:96810531C>T	ENST00000288943.4	-	2	564	c.479G>A	c.(478-480)cGc>cAc	p.R160H	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	160					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GGAGTCGGAGCGGCTGGTTTT	0.677																																					p.R160H		Atlas-SNP	.											.	DUSP2	20	.	0			c.G479A						PASS	.						12	17	15					2																	96810531		2184	4285	6469	SO:0001583	missense	1844	exon2			TCGGAGCGGCTGG	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.479G>A	2.37:g.96810531C>T	ENSP00000288943:p.Arg160His	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	51	6	0.117647	NM_004418	Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.148441	0.37923	.	.	ENSG00000158050	ENST00000288943	T	0.02498	4.27	4.0	-3.73	0.04398	.	1.159010	0.06242	N	0.690580	T	0.02888	0.0086	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46582	-0.9181	10	0.44086	T	0.13	.	1.8718	0.03210	0.1343:0.4233:0.1327:0.3096	.	160	Q05923	DUS2_HUMAN	H	160	ENSP00000288943:R160H	ENSP00000288943:R160H	R	-	2	0	DUSP2	96174258	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.775000	0.04679	-0.898000	0.03906	0.450000	0.29827	CGC	.	.	none		0.677	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		T	96810531	C	T	96810531	3	4	2	1	0	0	0	0	1	0	0	0	4819	768	27	1	477	1	DUSP2	2	96810531	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	45555533	96810531	146388842	18	327										
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97883094	97883094	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccacaagaataacaggcggtTggaaatctggaacaggtaat	11	7	1	1	rs62156176	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr2:97883094T>G	ENST00000461153.2	+	64	4082	c.3838T>G	c.(3838-3840)Tgg>Ggg	p.W1280G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.W1280G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1280								p.W1084G(2)|p.W1280G(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACAGGCGGTTGGAAATCTGG	0.338																																					p.W1280G		Atlas-SNP	.											ANKRD36_ENST00000420699,NS,carcinoma,0,4	ANKRD36	170	4	4	Substitution - Missense(4)	prostate(2)|endometrium(2)	c.T3838G						scavenged	.						151	119	129					2																	97883094		692	1591	2283	SO:0001583	missense	375248	exon64			GGCGGTTGGAAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3838T>G	2.37:g.97883094T>G	ENSP00000419530:p.Trp1280Gly	Somatic	314	3	0.00955414		WXS	Illumina HiSeq	Phase_I	305	4	0.0131148	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.470424	0.01044	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.28255	1.62;1.62	0.569	-0.453	0.12201	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22208	-1.0223	8	0.41790	T	0.15	.	.	.	.	rs62156176	1280;105	A6QL64;A6QL64-3	AN36A_HUMAN;.	G	1280;1280;547	ENSP00000419530:W1280G;ENSP00000391950:W1280G	ENSP00000391950:W1280G	W	+	1	0	ANKRD36	97246821	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.272000	0.08560	-0.248000	0.09583	-1.372000	0.01188	TGG	T|0.905;G|0.095	0.095	strong		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			G	97883094	T	G	97883094	3	3	2	1	0	0	0	0	1	0	0	0	665	1812	63	5	4092	5	ANKRD36	2	97883094	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	1072563	97883094	145316279	19	328										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114257354	114257354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gatcccccgcgagccgggccAcccaggcaagggcacctact	12	18	0	0	rs202243377	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr2:114257354A>G	ENST00000306507.5	+	1	694	c.521A>G	c.(520-522)cAc>cGc	p.H174R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGCCGGGCCACCCAGGCAAG	0.632													.|||	294	0.0587061	0.0091	0.0908	5008	,	,		10222	0.1776		0.0139	False		,,,				2504	0.0266				p.H174R		Atlas-SNP	.											FOXD4L1,NS,carcinoma,0,1	FOXD4L1	48	1	0			c.A521G						scavenged	.						75	97	89					2																	114257354		2141	4139	6280	SO:0001583	missense	200350	exon1			CGGGCCACCCAGG	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.521A>G	2.37:g.114257354A>G	ENSP00000302756:p.His174Arg	Somatic	92	2	0.0217391		WXS	Illumina HiSeq	Phase_I	92	6	0.0652174	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536728	0.27475	.	.	ENSG00000184492	ENST00000306507	D	0.95069	-3.6	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.35739	U	0.003002	T	0.78426	0.4281	N	0.00471	-1.455	0.41757	D	0.989692	B	0.14012	0.009	B	0.15052	0.012	T	0.71768	-0.4493	10	0.24483	T	0.36	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	174	Q9NU39	FX4L1_HUMAN	R	174	ENSP00000302756:H174R	ENSP00000302756:H174R	H	+	2	0	FOXD4L1	113973824	0.878000	0.30173	1.000000	0.80357	0.878000	0.50629	5.717000	0.68446	1.190000	0.43042	0.155000	0.16302	CAC	A|0.999;G|0.001	0.001	weak		0.632	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		G	114257354	A	G	114257354	3	3	2	1	0	0	0	0	1	0	0	0	6000	159	6	2	523	2	FOXD4L1	2	114257354	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	16374260	114257354	128942019	20	329										
COL4A4	1286	hgsc.bcm.edu	37	chr2	228009244	228009244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtacttaccccatatacataTtgtacagaaaagagaatgag	7	7	0	3	rs3817617	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr2:228009244T>C	ENST00000396625.3	-	3	309	c.102A>G	c.(100-102)caA>caG	p.Q34Q	COL4A4_ENST00000329662.7_Silent_p.Q34Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	34					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q34H(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CATATACATATTGTACAGAAA	0.299													T|||	28	0.00559105	0.0	0.0	5008	,	,		17138	0.0278		0.0	False		,,,				2504	0.0				p.Q34Q		Atlas-SNP	.											COL4A4,NS,carcinoma,0,1	COL4A4	215	1	1	Substitution - Missense(1)	lung(1)	c.A102G						scavenged	.						88	83	85					2																	228009244		1815	4072	5887	SO:0001819	synonymous_variant	1286	exon3			TACATATTGTACA		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.102A>G	2.37:g.228009244T>C		Somatic	659	2	0.0030349		WXS	Illumina HiSeq	Phase_I	608	8	0.0131579	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																			T|0.987;C|0.013	0.013	strong		0.299	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		C	228009244	T	C	228009244	2	2	2	1	0	0	0	0	0	0	0	1	3693	1490	52	2		2	COL4A4	2	228009244	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	113751890	228009244	15190129	21	330										
NUP210	23225	hgsc.bcm.edu	37	chr3	13427859	13427859	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gacgtcataggccgggttcaGaaggatgttttccaaaatca	11	8	3	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:13427859G>A	ENST00000254508.5	-	6	815	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	245					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCGGGTTCAGAAGGATGTTT	0.493																																					p.L245L		Atlas-SNP	.											.	NUP210	182	.	0			c.C733T						PASS	.						184	165	172					3																	13427859		2203	4300	6503	SO:0001819	synonymous_variant	23225	exon6			GGTTCAGAAGGAT	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.733C>T	3.37:g.13427859G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	64	10	0.15625	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			.	.	none		0.493	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13427859	G	A	13427859	2	1	2	1	0	0	0	0	0	0	0	1	10760	933	33	2		2	NUP210	3	13427859	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		13427859	184594571	22	331										
ZNF589	51385	hgsc.bcm.edu	37	chr3	48309736	48309736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tggggaggcaacagaatattAgagatacagctcagtccagc	12	8	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:48309736A>G	ENST00000354698.3	+	4	627	c.555A>G	c.(553-555)ttA>ttG	p.L185L	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	185					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGAATATTAGAGATACAGC	0.498																																					p.L185L	Colon(9;319 328 25374 27611 50948)	Atlas-SNP	.											ZNF589,NS,carcinoma,+2,1	ZNF589	20	1	0			c.A555G						scavenged	.						51	54	53					3																	48309736		1872	4126	5998	SO:0001819	synonymous_variant	51385	exon4			AATATTAGAGATA	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.555A>G	3.37:g.48309736A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	82	2	0.0243902	NM_016089	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Silent	SNP	ENST00000354698.3	37	CCDS43085.1																																																																																			.	.	none		0.498	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		G	48309736	A	G	48309736	2	3	2	1	0	0	0	0	0	0	0	1	18018	417	15	3		3	ZNF589	3	48309736	Silent	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	34881877	48309736	149712694	23	332										
MST1	63891	hgsc.bcm.edu	37	chr3	49725184	49725184	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aggcccagtggccactcaccGgcagtccattaagggcccac	11	16	1	0	rs191996618		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:49725184G>A	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Splice_Site_p.R81W|MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Splice_Site_p.R67W|MST1_ENST00000494828.2_Intron|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R67W(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCACTCACCGGCAGTCCATT	0.617																																					p.R81W		Atlas-SNP	.											MST1,trunk,malignant_melanoma,0,1	MST1	84	1	1	Substitution - Missense(1)	skin(1)	c.C241T						scavenged	.																																			SO:0001631	upstream_gene_variant	4485	exon2			CTCACCGGCAGTC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725184G>A	Exception_encountered	Somatic	110	3	0.0272727		WXS	Illumina HiSeq	Phase_I	85	3	0.0352941	NM_020998	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753661	0.31046	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	T;T	0.71222	-0.55;-0.55	4.22	2.22	0.28083	.	0.177772	0.26836	N	0.022260	T	0.63908	0.2551	M	0.65498	2.005	0.39552	D	0.968993	B;P	0.35208	0.169;0.49	B;B	0.28784	0.049;0.094	T	0.65973	-0.6038	10	0.54805	T	0.06	.	11.5769	0.50866	0.0:0.0:0.4124:0.5876	.	67;81	B7Z538;G3XAK1	.;.	W	81;67	ENSP00000414287:R81W;ENSP00000437535:R67W	ENSP00000411117:R81W	R	-	1	2	MST1	49700188	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	1.595000	0.36708	0.595000	0.29777	-0.293000	0.09583	CGG	.	.	weak		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49725184	G	A	49725184	1	1	2	0	1	0	0	0	0	0	0	0	9890	1130	39	1		1	MST1	3	49725184	5'Flank	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1415448	49725184	148297246	24	333										
RBM5	10181	hgsc.bcm.edu	37	chr3	50154752	50154752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aacaagatgctgcaggccatGggctggcgggaaggctctgg	17	9	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:50154752G>A	ENST00000347869.3	+	24	2437	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	754	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.|Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGGCCATGGGCTGGCGGG	0.517																																					p.M754I		Atlas-SNP	.											.	RBM5	76	.	0			c.G2262A						PASS	.						171	164	167					3																	50154752		2203	4300	6503	SO:0001583	missense	10181	exon24			GGCCATGGGCTGG	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2262G>A	3.37:g.50154752G>A	ENSP00000343054:p.Met754Ile	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	88	8	0.0909091	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322192	0.95708	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.50001	0.76	5.48	5.48	0.80851	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	H	0.99487	4.59	0.80722	D	1	D;D	0.63046	0.992;0.981	D;D	0.70227	0.968;0.966	D	0.90805	0.4697	10	0.87932	D;D	0;0	-14.2084	19.3354	0.94316	0.0:0.0:1.0:0.0	.	444;754	Q59HE6;P52756	.;RBM5_HUMAN	I	754;753;444	ENSP00000343054:M754I	ENSP00000343054:M754I;ENSP00000343054:M754I	M	+	3	0	RBM5	50129756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.532000	0.98057	2.571000	0.86741	0.650000	0.86243	ATG	.	.	none		0.517	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		A	50154752	G	A	50154752	3	1	2	1	0	0	0	0	1	0	0	0	13143	1348	47	2	2352	2	RBM5	3	50154752	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	429568	50154752	147867678	25	334										
CBLB	868	hgsc.bcm.edu	37	chr3	105495385	105495385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggacagttttgtgagatttcGtctgtaggcacaagggaaaa	13	5	1	1	rs369966206		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:105495385G>A	ENST00000264122.4	-	4	742	c.421C>T	c.(421-423)Cga>Tga	p.R141*	CBLB_ENST00000394027.3_Splice_Site_p.R163*|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Splice_Site_p.R141*|CBLB_ENST00000403724.1_Splice_Site_p.R141*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	141	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R141*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGAGATTTCGTCTGTAGGCA	0.348			Mis S		AML																																p.R141X	GBM(93;588 1337 9788 29341 43499)	Atlas-SNP	.		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	CBLB,NS,carcinoma,+1,3	CBLB	118	3	1	Substitution - Nonsense(1)	lung(1)	c.C421T						PASS	.	G	stop/ARG	0,4406		0,0,2203	103	100	101		421	3.9	0.8	3		101	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained-near-splice	CBLB	NM_170662.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		141/983	105495385	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	868	exon4			GATTTCGTCTGTA	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.420-1C>T	3.37:g.105495385G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	64	12	0.1875	NM_170662	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Nonsense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	39	7.302140	0.98196	0.0	1.16E-4	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	.	.	.	5.79	3.86	0.44501	.	0.057808	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1062	9.6351	0.39802	0.0697:0.0:0.6249:0.3054	.	.	.	.	X	141;163;141;141	.	ENSP00000264122:R141X	R	-	1	2	CBLB	106978075	1.000000	0.71417	0.802000	0.32245	0.896000	0.52359	2.245000	0.43133	0.728000	0.32382	0.557000	0.71058	CGA	.	.	weak		0.348	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	Nonsense_Mutation	A	105495385	G	A	105495385	5	1	2	1	0	0	0	0	0	0	1	0	2701	1159	40	1	2591	1	CBLB	3	105495385	Splice_Site	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	55340633	105495385	92527045	26	335										
GP9	2815	hgsc.bcm.edu	37	chr3	128780664	128780664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccagcccatgtacctgccgcGccctggaaaccatggggctg	12	16	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:128780664G>A	ENST00000307395.4	+	3	304	c.82G>A	c.(82-84)Gcc>Acc	p.A28T		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	28	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TACCTGCCGCGCCCTGGAAAC	0.697																																					p.A28T		Atlas-SNP	.											GP9,colon,carcinoma,-1,1	GP9	10	1	0			c.G82A						scavenged	.						20	21	20					3																	128780664		2202	4296	6498	SO:0001583	missense	2815	exon3			TGCCGCGCCCTGG		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"CD molecules"	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.82G>A	3.37:g.128780664G>A	ENSP00000303942:p.Ala28Thr	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	75	19	0.253333	NM_000174	Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484390	0.01027	.	.	ENSG00000169704	ENST00000307395	T	0.79141	-1.24	4.17	-2.72	0.05968	Leucine-rich repeat-containing N-terminal (2);	0.533187	0.17413	N	0.175135	T	0.47820	0.1466	N	0.17474	0.49	0.09310	N	1	B	0.33000	0.393	B	0.22601	0.04	T	0.38693	-0.9649	10	0.29301	T	0.29	-0.5344	0.6074	0.00755	0.3136:0.2824:0.2313:0.1728	.	28	P14770	GPIX_HUMAN	T	28	ENSP00000303942:A28T	ENSP00000303942:A28T	A	+	1	0	GP9	130263354	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.698000	0.00826	-0.879000	0.04002	0.462000	0.41574	GCC	.	.	none		0.697	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			A	128780664	G	A	128780664	3	1	2	1	0	0	0	0	1	0	0	0	6585	1087	38	1	84	1	GP9	3	128780664	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	23285279	128780664	69241766	27	336										
HPS3	84343	hgsc.bcm.edu	37	chr3	148863160	148863160	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggttctcttacatctgatggAaaaaatttgtctcaggaaaa	8	6	3	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:148863160A>G	ENST00000296051.2	+	5	1130	c.990A>G	c.(988-990)ggA>ggG	p.G330G	HPS3_ENST00000460120.1_Silent_p.G165G	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	330					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.N332fs*31(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTGATGGAAAAAATTTGT	0.343									Hermansky-Pudlak syndrome																												p.G330G		Atlas-SNP	.											.	HPS3	104	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.A990G						PASS	.						96	103	101					3																	148863160		2203	4300	6503	SO:0001819	synonymous_variant	84343	exon5	Familial Cancer Database	HPS, HPS1-8	TGATGGAAAAAAT	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.990A>G	3.37:g.148863160A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	7	0.0843373	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																			.	.	none		0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		G	148863160	A	G	148863160	2	3	2	1	0	0	0	0	0	0	0	1	7340	233	9	2		2	HPS3	3	148863160	Silent	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	20082496	148863160	49159270	28	337										
IQCJ	654502	hgsc.bcm.edu	37	chr3	158980510	158980510	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttttctatgtcctgacttgaCattcaactgaaagcctagac	6	10	2	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:158980510C>A	ENST00000451172.1	+	4	396				IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.T110K|IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CCTGACTTGACATTCAACTGA	0.458																																					p.T110K		Atlas-SNP	.											.	IQCJ	28	.	0			c.C329A						PASS	.						109	103	105					3																	158980510		1953	4159	6112	SO:0001627	intron_variant	654502	exon4			ACTTGACATTCAA	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.291+38C>A	3.37:g.158980510C>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	109	9	0.0825688	NM_001042706	B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514430	0.27123	.	.	ENSG00000214216	ENST00000397832	.	.	.	4.84	2.84	0.33178	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15867	-1.0422	6	.	.	.	.	10.9941	0.47565	0.4198:0.5802:0.0:0.0	.	110	Q1A5X6-2	.	K	110	.	.	T	+	2	0	IQCJ	160463204	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.252000	0.08806	1.102000	0.41551	0.655000	0.94253	ACA	.	.	none		0.458	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		A	158980510	C	A	158980510	1	1	2	0	1	0	0	0	0	0	0	0	7812	478	17	4		4	IQCJ	3	158980510	Intron	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	10117350	158980510	39041920	29	338										
IFT80	57560	hgsc.bcm.edu	37	chr3	159998476	159998476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttgcatccctttcatataatGttttaggcaaaatgtctctg	6	8	2	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr3:159998476G>A	ENST00000326448.7	-	15	2075	c.1643C>T	c.(1642-1644)aCa>aTa	p.T548I	IFT80_ENST00000496589.1_Missense_Mutation_p.T411I|IFT80_ENST00000483465.1_Missense_Mutation_p.T411I|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T719I	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	548					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.T548I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATATAATGTTTTAGGCAA	0.323																																					p.T548I		Atlas-SNP	.											IFT80,colon,carcinoma,0,1	IFT80	68	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1643T						PASS	.						122	111	115					3																	159998476		2203	4300	6503	SO:0001583	missense	57560	exon15			TATAATGTTTTAG	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1643C>T	3.37:g.159998476G>A	ENSP00000312778:p.Thr548Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	12	0.10084	NM_020800	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327407	0.81690	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.78481	-0.08;-1.18;-1.18	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000014	D	0.83936	0.5362	M	0.87456	2.885	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	D	0.84821	0.0796	10	0.36615	T	0.2	.	19.6123	0.95613	0.0:0.0:1.0:0.0	.	548	Q9P2H3	IFT80_HUMAN	I	548;411;411	ENSP00000312778:T548I;ENSP00000418196:T411I;ENSP00000420646:T411I	ENSP00000312778:T548I	T	-	2	0	IFT80	161481170	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	9.074000	0.93998	2.640000	0.89533	0.467000	0.42956	ACA	.	.	none		0.323	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		A	159998476	G	A	159998476	3	1	2	1	0	0	0	0	1	0	0	0	7564	1377	48	2	714	2	IFT80	3	159998476	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1017966	159998476	38023954	30	339										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388726	1388726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cgcctgctcacacgtgcccaTgcggagtgcccgcctgctca	11	18	2	0	rs199689156	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:1388726T>C	ENST00000324803.4	+	1	3387	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697																																					p.C143R		Atlas-SNP	.											CRIPAK,colon,carcinoma,0,4	CRIPAK	185	4	0			c.T427C						scavenged	.						38	37	37					4																	1388726		1908	3685	5593	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.427T>C	4.37:g.1388726T>C	ENSP00000323978:p.Cys143Arg	Somatic	34	4	0.117647		WXS	Illumina HiSeq	Phase_I	18	7	0.388889	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.608|8.608	0.888529|0.888529	0.17540|0.17540	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	0.948|0.948	-0.668|-0.668	0.11392|0.11392	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.27594|.	0.182|.	B|.	0.13407|.	0.009|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|6	0.51188|0.06365	T|T	0.08|0.9	.|.	4.4755|4.4755	0.11733|0.11733	0.0:0.2357:0.0:0.7643|0.0:0.2357:0.0:0.7643	.|.	143|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	143|126	ENSP00000323978:C143R|.	ENSP00000323978:C143R|ENSP00000372402:M126T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378726|1378726	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.703000|-0.703000	0.05063|0.05063	-0.155000|-0.155000	0.11098|0.11098	0.102000|0.102000	0.15555|0.15555	TGC|ATG	T|0.980;C|0.020	0.020	strong		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388726	T	C	1388726	3	2	2	1	0	0	0	0	1	0	0	0	3877	1464	51	2	429	2	CRIPAK	4	1388726	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10		1388726	189765550	31	340										
CXCL3	2921	hgsc.bcm.edu	37	chr4	74904067	74904067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cattcacactttggatgttcTtgaggtgaattccctgcagt	9	9	2	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:74904067T>C	ENST00000296026.4	-	2	241	c.164A>G	c.(163-165)aAg>aGg	p.K55R	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	55					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TTGGATGTTCTTGAGGTGAAT	0.597																																					p.K55R		Atlas-SNP	.											.	CXCL3	9	.	0			c.A164G						PASS	.						93	101	98					4																	74904067		2203	4300	6503	SO:0001583	missense	2921	exon2			ATGTTCTTGAGGT	M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"Endogenous ligands"	4604	protein-coding gene	gene with protein product		139111	"GRO3 oncogene"	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.164A>G	4.37:g.74904067T>C	ENSP00000296026:p.Lys55Arg	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	155	14	0.0903226	NM_002090	Q4W5H9	Missense_Mutation	SNP	ENST00000296026.4	37	CCDS34007.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946577	0.53186	.	.	ENSG00000163734	ENST00000296026	T	0.04406	3.63	3.45	0.597	0.17504	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.477746	0.24341	N	0.039377	T	0.07728	0.0194	L	0.58583	1.82	0.09310	N	1	P	0.40066	0.701	P	0.50109	0.631	T	0.19844	-1.0293	10	0.23891	T	0.37	.	3.2866	0.06934	0.0:0.1382:0.2414:0.6204	.	55	P19876	CXCL3_HUMAN	R	55	ENSP00000296026:K55R	ENSP00000296026:K55R	K	-	2	0	CXCL3	75122931	0.014000	0.17966	0.064000	0.19789	0.282000	0.26991	0.231000	0.17872	0.355000	0.24131	0.254000	0.18369	AAG	.	.	none		0.597	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362721.1			C	74904067	T	C	74904067	3	2	2	1	0	0	0	0	1	0	0	0	4086	1609	56	3	171	3	CXCL3	4	74904067	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	73515341	74904067	116250209	32	341										
COPS4	51138	hgsc.bcm.edu	37	chr4	83996453	83996453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	attttttttccccttagcacGagaagccctgccaacgtggg	9	12	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:83996453G>T	ENST00000264389.2	+	10	1226	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	COPS4_ENST00000511653.1_Silent_p.T413T|COPS4_ENST00000509093.1_Nonsense_Mutation_p.E336*|COPS4_ENST00000503682.1_Missense_Mutation_p.R396L	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	364					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CCCTTAGCACGAGAAGCCCTG	0.363																																					p.E336X		Atlas-SNP	.											COPS4,bladder,carcinoma,+1,2	COPS4	31	2	0			c.G1006T						scavenged	.						63	62	63					4																	83996453		2203	4300	6503	SO:0001583	missense	51138	exon9			TAGCACGAGAAGC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1091G>T	4.37:g.83996453G>T	ENSP00000264389:p.Arg364Leu	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	2	0.0307692	NM_001258006	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	CCDS3600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.056785|10.056785	0.99326|0.99326	.|.	.|.	ENSG00000138663|ENSG00000138663	ENST00000509093|ENST00000264389;ENST00000509317;ENST00000503682	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (1);	.|0.064020	.|0.64402	.|D	.|0.000004	.|T	.|0.52058	.|0.1711	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P;B	.|0.52692	.|0.955;0.179	.|P;B	.|0.45829	.|0.494;0.057	.|T	.|0.49214	.|-0.8963	.|10	0.66056|0.30078	D|T	0.02|0.28	-5.9455|-5.9455	20.3754|20.3754	0.98918|0.98918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|396;364	.|D6RFN0;Q9BT78	.|.;CSN4_HUMAN	X|L	336|364;252;396	.|ENSP00000264389:R364L;ENSP00000425486:R252L;ENSP00000424791:R396L	ENSP00000425976:E336X|ENSP00000264389:R364L	E|R	+|+	1|2	0|0	COPS4|COPS4	84215477|84215477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	9.352000|9.352000	0.97076|0.97076	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAG|CGA	.	.	none		0.363	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			T	83996453	G	T	83996453	3	4	2	1	0	0	0	0	1	0	0	0	3735	1058	37	4	1129	4	COPS4	4	83996453	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	9092386	83996453	107157823	33	342										
SLC25A31	83447	hgsc.bcm.edu	37	chr4	128651717	128651717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	catcatgcatcgtgagcctgCgaaaaagaaggcagaaaagc	11	9	1	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:128651717C>T	ENST00000281154.4	+	1	185	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	6					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CGTGAGCCTGCGAAAAAGAAG	0.552																																					p.A6V		Atlas-SNP	.											SLC25A31,NS,neuroblastoma,0,2	SLC25A31	42	2	0			c.C17T						scavenged	.						54	49	51					4																	128651717		2203	4300	6503	SO:0001583	missense	83447	exon1			AGCCTGCGAAAAA	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"Solute carriers"	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.17C>T	4.37:g.128651717C>T	ENSP00000281154:p.Ala6Val	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	132	5	0.0378788	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324136	0.24080	.	.	ENSG00000151475	ENST00000281154	T	0.79749	-1.3	4.38	-0.889	0.10580	.	2.940760	0.01033	N	0.004178	T	0.64702	0.2622	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.52275	-0.8597	10	0.18276	T	0.48	-5.9173	11.0833	0.48072	0.1325:0.2524:0.6152:0.0	.	6	Q9H0C2	ADT4_HUMAN	V	6	ENSP00000281154:A6V	ENSP00000281154:A6V	A	+	2	0	SLC25A31	128871167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.094000	0.15107	-0.344000	0.08338	-0.211000	0.12701	GCG	.	.	none		0.552	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		T	128651717	C	T	128651717	3	4	2	1	0	0	0	0	1	0	0	0	14495	768	27	1	19	1	SLC25A31	4	128651717	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	44655264	128651717	62502559	34	343										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811123	140811123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tgctgctgctgctgctgctgTtgctgttgctgtttctgctg	13	10	1	0	rs62344939		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547																																					p.Q489Q		Atlas-SNP	.											MAML3_ENST00000509479,colon,carcinoma,0,2	MAML3	192	2	0			c.A1467G						scavenged	.						17	20	19					4																	140811123		2193	4294	6487	SO:0001819	synonymous_variant	55534	exon2			CTGCTGTTGCTGT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467A>G	4.37:g.140811123T>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	44	5	0.113636	NM_018717		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																			.	.	weak		0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140811123	T	C	140811123	2	2	2	1	0	0	0	0	0	0	0	1	9207	1722	60	2		2	MAML3	4	140811123	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	12159406	140811123	50343153	35	344										
CLCN3	1182	hgsc.bcm.edu	37	chr4	170616831	170616831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccaattggaggagttcttttTagcctggaagaggtaggtga	14	5	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr4:170616831T>G	ENST00000513761.1	+	8	1564	c.1005T>G	c.(1003-1005)ttT>ttG	p.F335L	CLCN3_ENST00000504131.2_Missense_Mutation_p.F318L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F335L|CLCN3_ENST00000360642.3_Intron	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	335					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAGTTCTTTTTAGCCTGGAAG	0.348																																					p.F335L		Atlas-SNP	.											.	CLCN3	85	.	0			c.T1005G						PASS	.						82	87	85					4																	170616831		2203	4300	6503	SO:0001583	missense	1182	exon8			TCTTTTTAGCCTG	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1005T>G	4.37:g.170616831T>G	ENSP00000424603:p.Phe335Leu	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	55	8	0.145455	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.13|18.13	3.554513|3.554513	0.65425|0.65425	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000504131;ENST00000507875|ENST00000515420	D;D;D;D|.	0.96885|.	-4.16;-4.16;-4.16;-4.16|.	5.9|5.9	0.483|0.483	0.16820|0.16820	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85431|.	0.5695|.	H|H	0.97682|0.97682	4.055|4.055	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.999|.	D|.	0.85847|.	0.1401|.	10|.	0.87932|.	D|.	0|.	-12.0339|-12.0339	10.6439|10.6439	0.45608|0.45608	0.0:0.3784:0.0:0.6216|0.0:0.3784:0.0:0.6216	.|.	318;308;335;335|.	B9EGJ9;E9PE15;P51790;P51790-2|.	.;.;CLCN3_HUMAN;.|.	L|X	335;335;318;308|17	ENSP00000424603:F335L;ENSP00000261514:F335L;ENSP00000424540:F318L;ENSP00000425323:F308L|.	ENSP00000261514:F335L|.	F|L	+|+	3|2	2|0	CLCN3|CLCN3	170853406|170853406	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.671000|0.671000	0.39405|0.39405	0.955000|0.955000	0.29188|0.29188	-0.106000|-0.106000	0.12110|0.12110	-0.973000|-0.973000	0.02599|0.02599	TTT|TTA	.	.	none		0.348	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			G	170616831	T	G	170616831	3	3	2	1	0	0	0	0	1	0	0	0	3464	1751	61	5	1031	5	CLCN3	4	170616831	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	29805708	170616831	20537445	36	345										
DND1	373863	hgsc.bcm.edu	37	chr5	140050894	140050894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggagtcactgtttaaccatgGtacctgcctcagccccagca	9	14	2	0	rs201638404		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr5:140050894G>C	ENST00000542735.1	-	4	1089	c.1046C>G	c.(1045-1047)aCc>aGc	p.T349S	WDR55_ENST00000520764.1_3'UTR|WDR55_ENST00000358337.5_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	349					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAACCATGGTACCTGCCTC	0.602																																					p.T349S		Atlas-SNP	.											DND1,NS,carcinoma,-1,1	DND1	15	1	0			c.C1046G						scavenged	.						75	61	66					5																	140050894		1959	3964	5923	SO:0001583	missense	373863	exon4			ACCATGGTACCTG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.1046C>G	5.37:g.140050894G>C	ENSP00000445366:p.Thr349Ser	Somatic	323	7	0.0216718		WXS	Illumina HiSeq	Phase_I	228	10	0.0438596	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043394	0.19748	.	.	ENSG00000256453	ENST00000542735	T	0.30182	1.54	4.97	0.117	0.14652	.	1.006470	0.07994	N	0.987573	T	0.16769	0.0403	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	10	0.27082	T	0.32	0.0017	3.9136	0.09213	0.3271:0.0:0.5115:0.1614	.	349	Q8IYX4	DND1_HUMAN	S	349	ENSP00000445366:T349S	ENSP00000445366:T349S	T	-	2	0	DND1	140031078	0.002000	0.14202	0.000000	0.03702	0.312000	0.27988	0.583000	0.23849	0.101000	0.17610	0.551000	0.68910	ACC	G|0.979;C|0.021	0.021	strong		0.602	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		C	140050894	G	C	140050894	3	2	2	1	0	0	0	0	1	0	0	0	4666	1261	44	4	19	4	DND1	5	140050894	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		140050894	40864366	37	346										
PCDH12	51294	hgsc.bcm.edu	37	chr5	141324966	141324966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcacaggcacctgctgctgcTgctgctgcctctgctcttgc	10	16	3	0	rs62380003|rs532090538	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr5:141324966T>C	ENST00000231484.3	-	4	4745	c.3535A>G	c.(3535-3537)Agc>Ggc	p.S1179G		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1179	Poly-Ser.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgctgctgctgctgctgcct	0.557																																					p.S1179G		Atlas-SNP	.											.	PCDH12	133	.	0			c.A3535G						PASS	.						22	24	23					5																	141324966		2203	4295	6498	SO:0001583	missense	51294	exon4			TGCTGCTGCTGCT	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3535A>G	5.37:g.141324966T>C	ENSP00000231484:p.Ser1179Gly	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	51	14	0.27451	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	26	0.011904761904761904	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	22	0.029023746701846966	T	8.193	0.796523	0.16327	.	.	ENSG00000113555	ENST00000231484	T	0.53640	0.61	5.24	-0.821	0.10822	.	0.585786	0.17591	N	0.168779	T	0.12347	0.0300	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14924	-1.0455	10	0.87932	D	0	.	8.4335	0.32773	0.0:0.4561:0.0:0.5439	rs62380003	1179	Q9NPG4	PCD12_HUMAN	G	1179	ENSP00000231484:S1179G	ENSP00000231484:S1179G	S	-	1	0	PCDH12	141305150	1.000000	0.71417	0.027000	0.17364	0.001000	0.01503	0.556000	0.23438	-0.256000	0.09473	-0.353000	0.07706	AGC	T|0.988;C|0.012	0.012	strong		0.557	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		C	141324966	T	C	141324966	3	2	2	1	0	0	0	0	1	0	0	0	11510	1580	55	3	23	3	PCDH12	5	141324966	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	1274072	141324966	39590294	38	347										
EBF1	1879	hgsc.bcm.edu	37	chr5	158267047	158267047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcagacccacctggaatctcCgcatgtcacgtgggtttccc	9	15	3	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr5:158267047C>A	ENST00000313708.6	-	7	908	c.626G>T	c.(625-627)cGg>cTg	p.R209L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R186L|EBF1_ENST00000517373.1_Missense_Mutation_p.R209L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	209					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAATCTCCGCATGTCACG	0.388			T	HMGA2	lipoma																																p.R209L		Atlas-SNP	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	EBF1,colon,carcinoma,-1,1	EBF1	110	1	0			c.G626T						PASS	.						115	122	119					5																	158267047		2203	4300	6503	SO:0001583	missense	1879	exon7			AATCTCCGCATGT	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.626G>T	5.37:g.158267047C>A	ENSP00000322898:p.Arg209Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	127	21	0.165354	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056361	0.93793	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.60171	0.21;0.46;0.36	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.75884	2.315	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.994;0.972;0.998;0.999	T	0.79897	-0.1609	10	0.87932	D	0	-5.0542	19.1382	0.93436	0.0:1.0:0.0:0.0	.	209;195;209;186	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	L	209;209;186;209	ENSP00000322898:R209L;ENSP00000370029:R186L;ENSP00000428020:R209L	ENSP00000322898:R209L	R	-	2	0	EBF1	158199625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.505000	0.84491	0.655000	0.94253	CGG	.	.	none		0.388	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		A	158267047	C	A	158267047	3	1	2	1	0	0	0	0	1	0	0	0	4880	652	23	4	1189	4	EBF1	5	158267047	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	16942081	158267047	22648213	39	348										
FAM153B	202134	hgsc.bcm.edu	37	chr5	175528119	175528119	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggaagccacagaagttcacaTggtaaagtcgtcttctttcc	9	10	3	1	rs199710353		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr5:175528119T>C	ENST00000253490.4	+	11	689	c.632T>C	c.(631-633)aTg>aCg	p.M211T	FAM153B_ENST00000510151.1_Splice_Site_p.M134T|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Splice_Site_p.M134T			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	211								p.M211T(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAGTTCACATGGTAAAGTCG	0.433													N|||	1	0.000199681	0.0	0.0014	5008	,	,		30376	0.0		0.0	False		,,,				2504	0.0				p.M134T		Atlas-SNP	.											FAM153B,NS,carcinoma,0,4	FAM153B	28	4	4	Substitution - Missense(4)	endometrium(3)|kidney(1)	c.T401C						scavenged	.						258	307	289					5																	175528119		1510	2708	4218	SO:0001630	splice_region_variant	202134	exon10			TTCACATGGTAAA	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.633+1T>C	5.37:g.175528119T>C		Somatic	431	3	0.00696056		WXS	Illumina HiSeq	Phase_I	369	7	0.0189702	NM_001265615	A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	T	0.008	-1.861446	0.00552	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.917	-0.575	0.11734	.	.	.	.	.	T	0.20292	0.0488	N	0.24115	0.695	0.09310	N	1	B	0.33528	0.416	B	0.35470	0.203	T	0.18618	-1.0331	8	0.35671	T	0.21	.	2.9058	0.05720	0.5811:0.0:0.0:0.4189	.	211	P0C7A2	F153B_HUMAN	T	134;211	.	ENSP00000253490:M211T	M	+	2	0	FAM153B	175460725	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	-0.418000	0.07080	-0.147000	0.11254	-0.935000	0.02700	ATG	T|0.500;C|0.500	0.500	weak		0.433	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529	Missense_Mutation	C	175528119	T	C	175528119	5	2	2	1	0	0	0	0	0	0	1	0	5461	1478	51	2	674	2	FAM153B	5	175528119	Splice_Site	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	17261072	175528119	5387141	40	349										
HIST1H2BK	85236	hgsc.bcm.edu	37	chr6	27114250	27114250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggtgccctcggacacggcgtGcttggccaactccccgggca	14	16	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:27114250G>A	ENST00000356950.1	-	1	327	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.H110Y|MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	110					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GACACGGCGTGCTTGGCCAAC	0.597																																					p.H110Y		Atlas-SNP	.											.	HIST1H2BK	68	.	0			c.C328T						PASS	.						59	65	63					6																	27114250		2203	4292	6495	SO:0001583	missense	85236	exon1			CGGCGTGCTTGGC	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.328C>T	6.37:g.27114250G>A	ENSP00000349430:p.His110Tyr	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	81	9	0.111111	NM_080593	A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	19.40	3.820178	0.71028	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.51574	0.7;0.7	4.05	4.05	0.47172	Histone-fold (2);	0.000000	0.40469	U	0.001098	T	0.67850	0.2937	M	0.92738	3.34	0.40826	D	0.983549	D	0.71674	0.998	D	0.63957	0.92	T	0.77773	-0.2462	10	0.87932	D	0	.	14.5252	0.67884	0.0:0.0:1.0:0.0	.	110	O60814	H2B1K_HUMAN	Y	110	ENSP00000380100:H110Y;ENSP00000349430:H110Y	ENSP00000349430:H110Y	H	-	1	0	HIST1H2BK	27222229	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	5.915000	0.69973	2.196000	0.70406	0.650000	0.86243	CAC	.	.	none		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		A	27114250	G	A	27114250	3	1	2	1	0	0	0	0	1	0	0	0	7150	1319	46	2	56	2	HIST1H2BK	6	27114250	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		27114250	144000817	41	350										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911239	29911239	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cggcccatgaggcggagcagTtgagagcctacctggatggc	16	11	0	2	rs9260155	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:29911239T>C	ENST00000396634.1	+	5	879	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	HLA-A_ENST00000376806.5_Silent_p.L180L|HLA-A_ENST00000376802.2_Silent_p.L180L|HLA-A_ENST00000376809.5_Silent_p.L180L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	180	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGCGGAGCAGTTGAGAGCCTA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			N|||	1927	0.384784	0.1982	0.3487	5008	,	,		12044	0.5397		0.3489	False		,,,				2504	0.5399				p.L180L		Atlas-SNP	.											HLA-A,mouth,carcinoma,-1,1	HLA-A	89	1	0			c.T538C						scavenged	.						40	29	33					6																	29911239		1509	2697	4206	SO:0001819	synonymous_variant	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GAGCAGTTGAGAG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.538T>C	6.37:g.29911239T>C		Somatic	109	11	0.100917		WXS	Illumina HiSeq	Phase_I	81	14	0.17284	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			C|0.290;T|0.710	0.290	strong		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29911239	T	C	29911239	2	2	2	1	0	0	0	0	0	0	0	1	7195	1722	60	2		2	HLA-A	6	29911239	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	2796989	29911239	141203828	42	351										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238202	31238202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggtagaagcccagggcccagCacctcagggtggcctcatgg	15	13	2	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:31238202C>T	ENST00000376228.5	-	4	694	c.680G>A	c.(679-681)tGc>tAc	p.C227Y	HLA-C_ENST00000383329.3_Missense_Mutation_p.C227Y	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	227	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CAGGGCCCAGCACCTCAGGGT	0.607																																					p.C227Y		Atlas-SNP	.											.	HLA-C	92	.	0			c.G680A						PASS	.						46	49	48					6																	31238202		2203	4295	6498	SO:0001583	missense	3107	exon4			GCCCAGCACCTCA	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.680G>A	6.37:g.31238202C>T	ENSP00000365402:p.Cys227Tyr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	58	5	0.0862069	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.359977	0.24598	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	D;D	0.93488	-3.23;-3.23	2.65	2.65	0.31530	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000326	D	0.97414	0.9154	H	0.99312	4.51	0.29781	N	0.833962	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.92277	0.5830	10	0.87932	D	0	.	8.9782	0.35948	0.0:1.0:0.0:0.0	.	227;227;227;227	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	Y	227;227;227;264	ENSP00000365402:C227Y;ENSP00000372819:C227Y	ENSP00000365402:C227Y	C	-	2	0	HLA-C	31346181	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	2.210000	0.42816	1.812000	0.52913	0.281000	0.19383	TGC	.	.	none		0.607	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31238202	C	T	31238202	3	4	2	1	0	0	0	0	1	0	0	0	7197	710	25	2	440	2	HLA-C	6	31238202	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	1326963	31238202	139876865	43	352										
TNXB	7148	hgsc.bcm.edu	37	chr6	32017196	32017196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccacctggggctgcccgtccCtgtccttgtactgcacggtg	12	16	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:32017196C>T	ENST00000375244.3	-	28	9809	c.9608G>A	c.(9607-9609)aGg>aAg	p.R3203K	TNXB_ENST00000375247.2_Missense_Mutation_p.R3201K			P22105	TENX_HUMAN	tenascin XB	3248					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCCCGTCCCTGTCCTTGTA	0.662																																					p.R3201K		Atlas-SNP	.											.	TNXB	553	.	0			c.G9602A						PASS	.						68	73	71					6																	32017196		1278	2543	3821	SO:0001583	missense	7148	exon28			CCGTCCCTGTCCT	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9608G>A	6.37:g.32017196C>T	ENSP00000364393:p.Arg3203Lys	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	2.339	-0.351566	0.05173	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.54866	0.55;0.55	4.39	2.57	0.30868	.	0.368597	0.23524	N	0.047242	T	0.12518	0.0304	L	0.41573	1.285	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	10	0.02654	T	1	.	4.1787	0.10365	0.1809:0.6141:0.0:0.205	.	3201	P22105-3	.	K	3203;3201	ENSP00000364393:R3203K;ENSP00000364396:R3201K	ENSP00000364393:R3203K	R	-	2	0	TNXB	32125174	0.000000	0.05858	0.656000	0.29637	0.211000	0.24417	0.021000	0.13489	0.848000	0.35191	0.306000	0.20318	AGG	.	.	none		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32017196	C	T	32017196	3	4	2	1	0	0	0	0	1	0	0	0	16343	681	24	2	5179	2	TNXB	6	32017196	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	778994	32017196	139097871	44	353										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557461	32557461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccagtggggagctcagcaccAtcagtgtcactgtcagcgct	12	13	4	0	rs35053532	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:32557461A>G	ENST00000360004.5	-	1	164	c.59T>C	c.(58-60)aTg>aCg	p.M20T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTCAGCACCATCAGTGTCAC	0.572										Multiple Myeloma(14;0.17)																											p.M20T		Atlas-SNP	.											HLA-DRB1,NS,carcinoma,0,1	HLA-DRB1	41	1	0			c.T59C						scavenged	.						83	99	93					6																	32557461		1511	2709	4220	SO:0001583	missense	3123	exon1			AGCACCATCAGTG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.59T>C	6.37:g.32557461A>G	ENSP00000353099:p.Met20Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	99	4	0.040404	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	4.424	0.078455	0.08533	.	.	ENSG00000196126	ENST00000360004	T	0.00253	8.43	4.4	2.05	0.26809	MHC classes I/II-like antigen recognition protein (1);	1.753860	0.02864	N	0.130685	T	0.00073	0.0002	L	0.51422	1.61	0.09310	N	0.999999	B	0.20887	0.049	B	0.21360	0.034	T	0.43097	-0.9412	10	0.59425	D	0.04	.	5.3115	0.15833	0.7604:0.0:0.2396:0.0	rs35053532	20	P01911	2B1F_HUMAN	T	20	ENSP00000353099:M20T	ENSP00000353099:M20T	M	-	2	0	HLA-DRB1	32665439	0.226000	0.23696	0.380000	0.26093	0.101000	0.19017	1.241000	0.32743	0.270000	0.21984	0.379000	0.24179	ATG	A|0.986;G|0.013	0.013	strong		0.572	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32557461	A	G	32557461	3	3	2	1	0	0	0	0	1	0	0	0	7208	217	8	2	765	2	HLA-DRB1	6	32557461	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	540265	32557461	138557606	45	354										
DEFB114	245928	hgsc.bcm.edu	37	chr6	49928117	49928117	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agtctcttttacaacgaccgTaacgtttggtgcaacgatca	8	10	2	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:49928117T>A	ENST00000322066.3	-	2	97	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	33					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					ACAACGACCGTAACGTTTGGT	0.353																																					p.Y33F		Atlas-SNP	.											.	DEFB114	12	.	0			c.A98T						PASS	.						108	98	101					6																	49928117		2203	4299	6502	SO:0001583	missense	245928	exon2			CGACCGTAACGTT	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.98A>T	6.37:g.49928117T>A	ENSP00000312702:p.Tyr33Phe	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	97	18	0.185567	NM_001037499	Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.363120	0.24684	.	.	ENSG00000177684	ENST00000322066	T	0.11495	2.77	3.55	1.08	0.20341	.	2.144620	0.02476	N	0.088045	T	0.01627	0.0052	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40776	-0.9545	8	.	.	.	-2.5461	2.8936	0.05684	0.2578:0.131:0.0:0.6112	.	33	Q30KQ6	DB114_HUMAN	F	33	ENSP00000312702:Y33F	.	Y	-	2	0	DEFB114	50036076	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.082000	0.14847	0.227000	0.20999	0.528000	0.53228	TAC	.	.	none		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		A	49928117	T	A	49928117	3	1	2	1	0	0	0	0	1	0	0	0	4403	1638	57	5	114	5	DEFB114	6	49928117	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	17370656	49928117	121186950	46	355										
C6orf97	80129	hgsc.bcm.edu	37	chr6	151914338	151914338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggctggacgtggttttagctCgaacagagcagctggttcgt	15	8	0	1	rs201819308		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr6:151914338C>T	ENST00000239374.7	+	8	1489	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	CCDC170_ENST00000367290.5_Nonsense_Mutation_p.R464*	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	464																	GGTTTTAGCTCGAACAGAGCA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18393	0.0		0.001	False		,,,				2504	0.0				p.R464X		Atlas-SNP	.											.	.	.	.	0			c.C1390T						PASS	.	C	stop/ARG	0,3844		0,0,1922	96	90	92		1390	5.7	1	6		92	3,8273		0,3,4135	yes	stop-gained	C6orf97	NM_025059.3		0,3,6057	TT,TC,CC		0.0362,0.0,0.0248		464/716	151914338	3,12117	1922	4138	6060	SO:0001587	stop_gained	80129	exon8			TTAGCTCGAACAG	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.1390C>T	6.37:g.151914338C>T	ENSP00000239374:p.Arg464*	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	62	8	0.129032	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Nonsense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	40	8.013174	0.98610	0.0	3.62E-4	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6122	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	464	.	ENSP00000239374:R464X	R	+	1	2	C6orf97	151956031	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.649000	0.54417	2.861000	0.98227	0.655000	0.94253	CGA	C|1.000;T|0.000	0.000	strong		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		T	151914338	C	T	151914338	4	4	2	1	0	0	0	0	0	1	0	0	2374	876	31	1	1420	1	C6orf97	6	151914338	Nonsense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	101986221	151914338	19200729	47	356										
THSD7A	221981	hgsc.bcm.edu	37	chr7	11676123	11676123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gcgggggcgccaccacatgaCgcgtccggtgctggagcccg	17	15	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:11676123C>T	ENST00000423059.4	-	2	907	c.656G>A	c.(655-657)cGt>cAt	p.R219H	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	219	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCACATGACGCGTCCGGTG	0.617										HNSCC(18;0.044)																											p.R219H		Atlas-SNP	.											.	THSD7A	219	.	0			c.G656A						PASS	.						28	29	29					7																	11676123		2016	4187	6203	SO:0001583	missense	221981	exon2			ACATGACGCGTCC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.656G>A	7.37:g.11676123C>T	ENSP00000406482:p.Arg219His	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	7	0.132075	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337694	0.81911	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.65364	-0.15	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93148	0.6547	10	0.62326	D	0.03	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	219	Q9UPZ6	THS7A_HUMAN	H	219	ENSP00000406482:R219H	ENSP00000262042:R219H	R	-	2	0	THSD7A	11642648	1.000000	0.71417	0.086000	0.20670	0.358000	0.29455	7.776000	0.85560	2.810000	0.96702	0.585000	0.79938	CGT	.	.	none		0.617	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11676123	C	T	11676123	3	4	2	1	0	0	0	0	1	0	0	0	15876	536	19	1	4421	1	THSD7A	7	11676123	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		11676123	147462540	48	357										
TMEM106B	54664	hgsc.bcm.edu	37	chr7	12269417	12269417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggcacgcttaaacaacataaCcattattggtccacttgata	6	10	0	1	rs3173615	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:12269417C>G	ENST00000396667.3	+	6	876	c.554C>G	c.(553-555)aCc>aGc	p.T185S	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T185S	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	185			T -> S (in dbSNP:rs3173615). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:23742080}.		cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AACAACATAACCATTATTGGT	0.308													C|||	2980	0.595048	0.6808	0.5692	5008	,	,		18287	0.6508		0.4016	False		,,,				2504	0.6391				p.T185S		Atlas-SNP	.											TMEM106B,NS,adenoma,0,1	TMEM106B	34	1	0			c.C554G						scavenged	.	C	SER/THR,SER/THR	2897,1509	673.6+/-402.8	965,967,271	69	70	69		554,554	5.4	1	7	dbSNP_105	69	3587,5009	516.1+/-378.7	780,2027,1491	yes	missense,missense	TMEM106B	NM_001134232.1,NM_018374.3	58,58	1745,2994,1762	GG,GC,CC		41.7287,34.2488,49.8693	possibly-damaging,possibly-damaging	185/275,185/275	12269417	6484,6518	2203	4298	6501	SO:0001583	missense	54664	exon5			ACATAACCATTAT	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.554C>G	7.37:g.12269417C>G	ENSP00000379901:p.Thr185Ser	Somatic	519	3	0.00578035		WXS	Illumina HiSeq	Phase_I	494	6	0.0121457	NM_001134232	A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	CCDS5358.1	1198	0.5485347985347986	324	0.6585365853658537	184	0.5082872928176796	384	0.6713286713286714	306	0.40369393139841686	C	14.51	2.557596	0.45590	0.657512	0.417287	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.22539	1.95;1.95	5.36	5.36	0.76844	.	0.048857	0.85682	D	0.000000	T	0.00012	0.0000	L	0.50333	1.59	0.22330	P	0.99919789	B	0.20261	0.043	B	0.17098	0.017	T	0.38178	-0.9673	9	0.54805	T	0.06	-15.6842	12.7762	0.57451	0.0:0.9247:0.0:0.0753	rs3173615;rs10348977;rs11546466;rs17149904;rs17853942;rs52789343;rs59821228;rs3173615	185	Q9NUM4	T106B_HUMAN	S	185	ENSP00000379902:T185S;ENSP00000379901:T185S	ENSP00000379901:T185S	T	+	2	0	TMEM106B	12235942	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.898000	0.69838	2.689000	0.91719	0.655000	0.94253	ACC	C|0.481;G|0.519	0.519	strong		0.308	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		G	12269417	C	G	12269417	3	3	2	1	0	0	0	0	1	0	0	0	16018	507	18	4	568	4	TMEM106B	7	12269417	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	593294	12269417	146869246	49	358										
DPY19L1	23333	hgsc.bcm.edu	37	chr7	35009120	35009120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gaaatgcagagtgcaatcaaGcttcctctataaagttttgt	8	7	2	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:35009120G>A	ENST00000310974.4	-	9	864	c.720C>T	c.(718-720)agC>agT	p.S240S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	240						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S240S(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTGCAATCAAGCTTCCTCTAT	0.358																																					p.S240S		Atlas-SNP	.											DPY19L1,NS,carcinoma,0,2	DPY19L1	56	2	2	Substitution - coding silent(2)	kidney(2)	c.C720T						scavenged	.						81	76	77					7																	35009120		1833	4097	5930	SO:0001819	synonymous_variant	23333	exon9			AATCAAGCTTCCT	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.720C>T	7.37:g.35009120G>A		Somatic	643	21	0.0326594		WXS	Illumina HiSeq	Phase_I	535	29	0.0542056	NM_015283	O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																			.	.	none		0.358	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			A	35009120	G	A	35009120	2	1	2	1	0	0	0	0	0	0	0	1	4740	962	34	2		2	DPY19L1	7	35009120	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	22739703	35009120	124129543	50	359										
TMEM130	222865	hgsc.bcm.edu	37	chr7	98449156	98449156	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaggtgtgggtcaggttgtaCgctgtgctggccacggacac	16	9	1	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:98449156C>G	ENST00000416379.2	-	6	898	c.894G>C	c.(892-894)gcG>gcC	p.A298A	TMEM130_ENST00000546258.1_Silent_p.A279A|TMEM130_ENST00000450876.1_Silent_p.A214A|TMEM130_ENST00000339375.4_Silent_p.A298A|TMEM130_ENST00000345589.4_Silent_p.A196A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	298						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGTTGTACGCTGTGCTGG	0.602																																					p.A298A		Atlas-SNP	.											TMEM130,NS,carcinoma,0,1	TMEM130	54	1	0			c.G894C						scavenged	.						123	88	100					7																	98449156		2203	4300	6503	SO:0001819	synonymous_variant	222865	exon6			GTTGTACGCTGTG		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.894G>C	7.37:g.98449156C>G		Somatic	66	2	0.030303		WXS	Illumina HiSeq	Phase_I	46	5	0.108696	NM_152913	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																			.	.	none		0.602	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		G	98449156	C	G	98449156	2	3	2	1	0	0	0	0	0	0	0	1	16040	523	19	4		4	TMEM130	7	98449156	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	63440036	98449156	60689507	51	360										
TAS2R16	50833	hgsc.bcm.edu	37	chr7	122634960	122634960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtacctataatggtgatgagTatggttagaaagtaagaggt	13	2	0	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:122634960T>C	ENST00000249284.2	-	1	794	c.729A>G	c.(727-729)atA>atG	p.I243M		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	243					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTGATGAGTATGGTTAGAA	0.418																																					p.I243M		Atlas-SNP	.											.	TAS2R16	57	.	0			c.A729G						PASS	.						135	124	128					7																	122634960		2203	4300	6503	SO:0001583	missense	50833	exon1			GATGAGTATGGTT	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.729A>G	7.37:g.122634960T>C	ENSP00000249284:p.Ile243Met	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	102	8	0.0784314	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426121	0.43020	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.67	1.06	0.20224	.	1.003370	0.08035	N	0.994197	T	0.43144	0.1234	L	0.53249	1.67	0.09310	N	1	D	0.57571	0.98	P	0.54270	0.747	T	0.27262	-1.0079	10	0.39692	T	0.17	.	6.0768	0.19919	0.0:0.3142:0.0:0.6858	.	243	Q9NYV7	T2R16_HUMAN	M	243	ENSP00000249284:I243M	ENSP00000249284:I243M	I	-	3	3	TAS2R16	122422196	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.432000	0.21461	0.384000	0.24942	0.533000	0.62120	ATA	.	.	none		0.418	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		C	122634960	T	C	122634960	3	2	2	1	0	0	0	0	1	0	0	0	15566	1628	57	2	150	2	TAS2R16	7	122634960	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	24185804	122634960	36503703	52	361										
AHCYL2	23382	hgsc.bcm.edu	37	chr7	129064932	129064932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cttgatagagctttacaatgCtcctgagggtcgctataagc	10	9	0	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:129064932C>T	ENST00000325006.3	+	15	1712	c.1658C>T	c.(1657-1659)gCt>gTt	p.A553V	AHCYL2_ENST00000531335.2_Missense_Mutation_p.A472V|AHCYL2_ENST00000490911.1_Missense_Mutation_p.A450V|AHCYL2_ENST00000474594.1_Missense_Mutation_p.A450V|AHCYL2_ENST00000446212.1_Missense_Mutation_p.A451V|AHCYL2_ENST00000446544.2_Missense_Mutation_p.A552V	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	553					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CTTTACAATGCTCCTGAGGGT	0.463																																					p.A553V	Pancreas(160;1736 1964 29875 40941 45605)	Atlas-SNP	.											.	AHCYL2	79	.	0			c.C1658T						PASS	.						171	153	159					7																	129064932		2203	4300	6503	SO:0001583	missense	23382	exon15			ACAATGCTCCTGA	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1658C>T	7.37:g.129064932C>T	ENSP00000315931:p.Ala553Val	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	66	14	0.212121	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.439306|5.439306	0.96168|0.96168	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.77489|.	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.046797|.	0.85682|.	D|.	0.000000|.	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.987;0.978;0.998;0.978;0.997|.	P;P;D;P;P|.	0.65773|.	0.861;0.806;0.938;0.806;0.897|.	T|T	0.79438|0.79438	-0.1803|-0.1803	10|5	0.48119|.	T|.	0.1|.	-12.0409|-12.0409	17.8694|17.8694	0.88807|0.88807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	450;451;553;450;552|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	V|F	553;552;472;450;451;450|460	ENSP00000315931:A553V;ENSP00000413639:A552V;ENSP00000431787:A472V;ENSP00000420459:A450V;ENSP00000405267:A451V;ENSP00000420801:A450V|.	ENSP00000315931:A553V|.	A|L	+|+	2|1	0|0	AHCYL2|AHCYL2	128852168|128852168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.796000|7.796000	0.85898|0.85898	2.565000|2.565000	0.86533|0.86533	0.650000|0.650000	0.86243|0.86243	GCT|CTC	.	.	none		0.463	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129064932	C	T	129064932	3	4	2	1	0	0	0	0	1	0	0	0	411	797	28	2	1838	2	AHCYL2	7	129064932	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	6429972	129064932	30073731	53	362										
KIAA1549	57670	hgsc.bcm.edu	37	chr7	138603173	138603173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gagtgttgtccacaggaccgGggagggctgaattgctatgc	16	8	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:138603173G>A	ENST00000422774.1	-	2	1247	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P400L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P350L			Q9HCM3	K1549_HUMAN	KIAA1549	400						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACAGGACCGGGGAGGGCTGA	0.527			O	BRAF	pilocytic astrocytoma																																p.P400L	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549	314	.	0			c.C1199T						PASS	.						98	98	98					7																	138603173		2015	4181	6196	SO:0001583	missense	57670	exon2			GGACCGGGGAGGG		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1199C>T	7.37:g.138603173G>A	ENSP00000416040:p.Pro400Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	91	9	0.0989011	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303705	0.40795	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25414	1.8;1.81;1.81	4.73	4.73	0.59995	.	0.299915	0.24303	N	0.039706	T	0.24890	0.0604	L	0.29908	0.895	0.30414	N	0.778801	P;P	0.44946	0.761;0.846	B;P	0.44811	0.272;0.461	T	0.09487	-1.0672	10	0.56958	D	0.05	.	15.023	0.71647	0.0:0.0:1.0:0.0	.	400;400	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	400;350;400	ENSP00000406661:P400L;ENSP00000242365:P350L;ENSP00000416040:P400L	ENSP00000242365:P350L	P	-	2	0	KIAA1549	138253713	0.746000	0.28272	0.227000	0.23927	0.010000	0.07245	2.470000	0.45119	2.459000	0.83118	0.650000	0.86243	CCC	.	.	none		0.527	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			A	138603173	G	A	138603173	3	1	2	1	0	0	0	0	1	0	0	0	8244	1232	43	2	4729	2	KIAA1549	7	138603173	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	9538241	138603173	20535490	54	363										
SLC37A3	84255	hgsc.bcm.edu	37	chr7	140055490	140055490	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cataaccatactgaagaacaGaagaagctaggcacgctccc	8	12	0	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:140055490G>T	ENST00000326232.9	-	7	799	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	SLC37A3_ENST00000461089.1_5'Flank|SLC37A3_ENST00000429996.2_Missense_Mutation_p.F150L|SLC37A3_ENST00000340308.3_Missense_Mutation_p.S199Y|SLC37A3_ENST00000447932.2_Missense_Mutation_p.S199Y	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	199					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTGAAGAACAGAAGAAGCTAG	0.438																																					p.S199Y	Esophageal Squamous(133;211 1716 4665 11387 37873)	Atlas-SNP	.											.	SLC37A3	80	.	0			c.C596A						PASS	.						177	145	156					7																	140055490		2203	4300	6503	SO:0001583	missense	84255	exon7			AGAACAGAAGAAG	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.596C>A	7.37:g.140055490G>T	ENSP00000321498:p.Ser199Tyr	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	6	0.125	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	0.599|0.599|0.599	-0.830008|-0.830008|-0.830008	0.02734|0.02734|0.02734	.|.|.	.|.|.	ENSG00000157800|ENSG00000157800|ENSG00000157800	ENST00000429996|ENST00000485861|ENST00000340308;ENST00000447932;ENST00000326232;ENST00000539816	T|.|T;T;T	0.38401|.|0.55760	1.14|.|0.5;0.5;0.5	5.28|5.28|5.28	4.34|4.34|4.34	0.51931|0.51931|0.51931	.|.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|.|0.157131	.|.|0.56097	.|.|D	.|.|0.000027	T|T|T	0.33147|0.33147|0.33147	0.0853|0.0853|0.0853	N|N|N	0.16708|0.16708|0.16708	0.43|0.43|0.43	0.22468|0.22468|0.22468	N|N|N	0.99907|0.99907|0.99907	.|.|B;B;B;B;B	.|.|0.20550	.|.|0.011;0.005;0.009;0.046;0.012	.|.|B;B;B;B;B	.|.|0.19666	.|.|0.026;0.015;0.015;0.022;0.026	T|T|T	0.08351|0.08351|0.08351	-1.0726|-1.0726|-1.0726	7|5|10	0.27785|.|0.02654	T|.|T	0.31|.|1	-20.8037|-20.8037|-20.8037	15.9284|15.9284|15.9284	0.79639|0.79639|0.79639	0.0:0.2129:0.7871:0.0|0.0:0.2129:0.7871:0.0|0.0:0.2129:0.7871:0.0	.|.|.	.|.|171;199;199;199;199	.|.|B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5	.|.|.;.;.;.;SPX3_HUMAN	L|M|Y	150|124|199	ENSP00000412208:F150L|.|ENSP00000343358:S199Y;ENSP00000397481:S199Y;ENSP00000321498:S199Y	ENSP00000412208:F150L|.|ENSP00000321498:S199Y	F|L|S	-|-|-	3|1|2	2|2|0	SLC37A3|SLC37A3|SLC37A3	139701959|139701959|139701959	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.610000|0.610000|0.610000	0.28997|0.28997|0.28997	0.166000|0.166000|0.166000	0.22503|0.22503|0.22503	4.226000|4.226000|4.226000	0.58606|0.58606|0.58606	2.616000|2.616000|2.616000	0.88540|0.88540|0.88540	0.639000|0.639000|0.639000	0.83563|0.83563|0.83563	TTC|CTG|TCT	.	.	none		0.438	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		T	140055490	G	T	140055490	3	4	2	1	0	0	0	0	1	0	0	0	14599	942	33	4	1073	4	SLC37A3	7	140055490	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1452317	140055490	19083173	55	364										
EPHB6	2051	hgsc.bcm.edu	37	chr7	142564346	142564346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	acatcctggactatcagctcCgctactatgaccaggtgcgc	9	14	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:142564346C>T	ENST00000392957.2	+	10	2357	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	EPHB6_ENST00000442129.1_Missense_Mutation_p.R524C|EPHB6_ENST00000411471.2_Missense_Mutation_p.R247C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	524	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTATCAGCTCCGCTACTATGA	0.627																																					p.R524C		Atlas-SNP	.											EPHB6,NS,carcinoma,0,1	EPHB6	168	1	0			c.C1570T						scavenged	.						78	79	78					7																	142564346		2203	4300	6503	SO:0001583	missense	2051	exon10			CAGCTCCGCTACT	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1570C>T	7.37:g.142564346C>T	ENSP00000376684:p.Arg524Cys	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030264	0.75504	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.58652	0.32;0.32;0.32	4.95	4.95	0.65309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000230	T	0.68622	0.3021	M	0.65320	2	0.58432	D	0.999999	D	0.61697	0.99	P	0.59643	0.861	T	0.72060	-0.4404	10	0.87932	D	0	.	12.6742	0.56884	0.165:0.835:0.0:0.0	.	524	O15197	EPHB6_HUMAN	C	524;524;247	ENSP00000376684:R524C;ENSP00000410789:R524C;ENSP00000409061:R247C	ENSP00000376684:R524C	R	+	1	0	EPHB6	142274468	0.322000	0.24634	1.000000	0.80357	0.995000	0.86356	0.846000	0.27682	2.451000	0.82905	0.556000	0.70494	CGC	.	.	none		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142564346	C	T	142564346	3	4	2	1	0	0	0	0	1	0	0	0	5178	652	23	1	1592	1	EPHB6	7	142564346	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	2508856	142564346	16574317	56	365										
MLL3	58508	hgsc.bcm.edu	37	chr7	151962134	151962134	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaaacttacttgcagttctgGcacactttgcactcaggaca	7	11	2	0	rs146238849		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:151962134G>T	ENST00000262189.6	-	8	1391	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C391*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	391					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C391*(2)									TGCAGTTCTGGCACACTTTGC	0.408																																					p.C391X		Atlas-SNP	.											MLL3_ENST00000355193,NS,malignant_melanoma,0,2	MLL3	1564	2	2	Substitution - Nonsense(2)	NS(2)	c.C1173A						scavenged	.						230	213	219					7																	151962134		2203	4297	6500	SO:0001587	stop_gained	58508	exon8			GTTCTGGCACACT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1173C>A	7.37:g.151962134G>T	ENSP00000262189:p.Cys391*	Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	140	5	0.0357143	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	39	7.887843	0.98545	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.53	3.62	0.41486	.	0.000000	0.45867	U	0.000330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2395	0.54534	0.0835:0.0:0.9165:0.0	.	.	.	.	X	391	.	ENSP00000262189:C391X	C	-	3	2	MLL3	151593067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.718000	0.74713	2.206000	0.71126	0.460000	0.39030	TGC	.	.	weak		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962134	G	T	151962134	4	4	2	1	0	0	0	0	0	1	0	0	9622	1195	42	4	13770	4	MLL3	7	151962134	Nonsense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	9397788	151962134	7176529	57	366										
MLL3	58508	hgsc.bcm.edu	37	chr7	151962168	151962168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	caggacattgccaacctgcaCgttttaatggagtaaccgct	9	11	0	0	rs138908625	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:151962168C>A	ENST00000262189.6	-	8	1357	c.1139G>T	c.(1138-1140)cGt>cTt	p.R380L	KMT2C_ENST00000355193.2_Missense_Mutation_p.R380L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	380					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R380L(4)									CCAACCTGCACGTTTTAATGG	0.443																																					p.R380L		Atlas-SNP	.											MLL3_ENST00000355193,extremity,malignant_melanoma,0,6	MLL3	1564	6	4	Substitution - Missense(4)	skin(4)	c.G1139T						scavenged	.	C	LEU/ARG	29,4377	25.3+/-52.1	0,29,2174	410	369	383		1139	4.7	1	7	dbSNP_134	383	15,8585	3.7+/-12.6	0,15,4285	no	missense	MLL3	NM_170606.2	102	0,44,6459	AA,AC,CC		0.1744,0.6582,0.3383	probably-damaging	380/4912	151962168	44,12962	2203	4300	6503	SO:0001583	missense	58508	exon8			CCTGCACGTTTTA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1139G>T	7.37:g.151962168C>A	ENSP00000262189:p.Arg380Leu	Somatic	208	2	0.00961538		WXS	Illumina HiSeq	Phase_I	194	10	0.0515464	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688003	0.48097	0.006582	0.001744	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98876	-5.2;-5.2	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38548	U	0.001645	D	0.98560	0.9519	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.96263	0.9192	10	0.52906	T	0.07	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	380	Q8NEZ4	MLL3_HUMAN	L	380	ENSP00000262189:R380L;ENSP00000347325:R380L	ENSP00000262189:R380L	R	-	2	0	MLL3	151593101	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	6.039000	0.70972	2.271000	0.75665	0.557000	0.71058	CGT	C|0.500;A|0.500	0.500	weak		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151962168	C	A	151962168	3	1	2	1	0	0	0	0	1	0	0	0	9622	536	19	4	13804	4	MLL3	7	151962168	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	34	151962168	7176495	58	367										
NOM1	64434	hgsc.bcm.edu	37	chr7	156743222	156743222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cgaaagtgaggaggaggaggAgggagacgtagaaaaggaaa	19	2	0	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr7:156743222A>G	ENST00000275820.3	+	1	806	c.791A>G	c.(790-792)gAg>gGg	p.E264G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		gaggaggaggagggagacgta	0.542																																					p.E264G		Atlas-SNP	.											NOM1,NS,carcinoma,+1,1	NOM1	73	1	0			c.A791G						scavenged	.						64	46	52					7																	156743222		2203	4300	6503	SO:0001583	missense	64434	exon1			AGGAGGAGGGAGA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.791A>G	7.37:g.156743222A>G	ENSP00000275820:p.Glu264Gly	Somatic	73	2	0.0273973		WXS	Illumina HiSeq	Phase_I	72	3	0.0416667	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648378	0.29336	.	.	ENSG00000146909	ENST00000275820	T	0.13901	2.55	3.07	-6.13	0.02118	.	2.984370	0.01388	N	0.013164	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.17098	0.017	T	0.25710	-1.0124	10	0.18710	T	0.47	0.0073	4.0147	0.09639	0.36:0.4427:0.0802:0.1172	.	264	Q5C9Z4	NOM1_HUMAN	G	264	ENSP00000275820:E264G	ENSP00000275820:E264G	E	+	2	0	NOM1	156435983	0.146000	0.22672	0.000000	0.03702	0.139000	0.21198	0.678000	0.25277	-1.661000	0.01484	0.456000	0.33151	GAG	.	.	none		0.542	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156743222	A	G	156743222	3	3	2	1	0	0	0	0	1	0	0	0	10530	304	11	3	793	3	NOM1	7	156743222	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	4781054	156743222	2395441	59	368										
PEX2	5828	hgsc.bcm.edu	37	chr8	77896279	77896279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaagcgagctaacagcccagGtttaaatccatgaaagcact	8	10	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr8:77896279G>A	ENST00000419564.2	-	4	600	c.136C>T	c.(136-138)Cct>Tct	p.P46S	PEX2_ENST00000357039.4_Missense_Mutation_p.P46S|PEX2_ENST00000520103.1_Missense_Mutation_p.P46S|PEX2_ENST00000522527.1_Missense_Mutation_p.P46S	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	46					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AACAGCCCAGGTTTAAATCCA	0.473																																					p.P46S		Atlas-SNP	.											.	PEX2	44	.	0			c.C136T						PASS	.						91	90	90					8																	77896279		2203	4300	6503	SO:0001583	missense	5828	exon4			GCCCAGGTTTAAA	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.136C>T	8.37:g.77896279G>A	ENSP00000400984:p.Pro46Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	102	8	0.0784314	NM_000318	Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531768	0.85706	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.74	5.74	0.90152	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.88246	0.2913	10	0.38643	T	0.18	-14.1507	19.9336	0.97129	0.0:0.0:1.0:0.0	.	46	P28328	PEX2_HUMAN	S	46	ENSP00000349543:P46S;ENSP00000400984:P46S;ENSP00000428590:P46S;ENSP00000428638:P46S;ENSP00000429304:P46S	ENSP00000349543:P46S	P	-	1	0	PEX2	78058834	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.434000	0.97515	2.717000	0.92951	0.563000	0.77884	CCT	.	.	none		0.473	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		A	77896279	G	A	77896279	3	1	2	1	0	0	0	0	1	0	0	0	11745	1261	44	2	785	2	PEX2	8	77896279	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		77896279	68467743	60	369										
RIMS2	9699	hgsc.bcm.edu	37	chr8	105263836	105263836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tattttgccaacagatcatcGtctggggagattatggccgc	11	9	2	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr8:105263836G>A	ENST00000436393.2	+	28	4133	c.3892G>A	c.(3892-3894)Gtc>Atc	p.V1298I	RIMS2_ENST00000507740.1_Missense_Mutation_p.V1094I|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1119I|RIMS2_ENST00000339750.2_Missense_Mutation_p.V216I|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1280I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1342	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGATCATCGTCTGGGGAGA	0.358										HNSCC(12;0.0054)																											p.V1280I		Atlas-SNP	.											RIMS2_ENST00000507740,NS,carcinoma,-2,4	RIMS2	1357	4	0			c.G3838A						PASS	.						118	115	116					8																	105263836		1880	4138	6018	SO:0001583	missense	9699	exon24			ATCATCGTCTGGG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3892G>A	8.37:g.105263836G>A	ENSP00000390665:p.Val1298Ile	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	100	12	0.12	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.231635	0.79688	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.64	5.64	0.86602	.	.	.	.	.	D	0.92564	0.7638	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.71674	0.984;0.995;0.995;0.998	D;D;D;D	0.69824	0.925;0.95;0.95;0.966	D	0.92842	0.6289	9	0.72032	D	0.01	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1298;1119;1094;1280	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	I	1317;1280;1342;1119;1094;1298;216;216	ENSP00000384892:V1280I;ENSP00000262231:V1119I;ENSP00000423559:V1094I;ENSP00000390665:V1298I;ENSP00000428478:V216I;ENSP00000342051:V216I	ENSP00000262231:V1119I	V	+	1	0	RIMS2	105333012	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	GTC	.	.	none		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105263836	G	A	105263836	3	1	2	1	0	0	0	0	1	0	0	0	13368	1145	40	1	4128	1	RIMS2	8	105263836	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	27367557	105263836	41100186	61	370										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77427256	77427256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcgagggatggtaagaaagcGatggaggttcactccatatt	13	6	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr9:77427256G>A	ENST00000360774.1	-	12	1639	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	TRPM6_ENST00000376871.3_Missense_Mutation_p.R468C|TRPM6_ENST00000376864.4_Missense_Mutation_p.R468C|TRPM6_ENST00000376872.3_Missense_Mutation_p.R468C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R463C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R463C|TRPM6_ENST00000451710.3_Missense_Mutation_p.R468C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	468					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						GTAAGAAAGCGATGGAGGTTC	0.433																																					p.R468C		Atlas-SNP	.											TRPM6,NS,carcinoma,0,1	TRPM6	377	1	0			c.C1402T						scavenged	.						127	114	119					9																	77427256		2203	4300	6503	SO:0001583	missense	140803	exon12			GAAAGCGATGGAG	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.1402C>T	9.37:g.77427256G>A	ENSP00000354006:p.Arg468Cys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	61	5	0.0819672	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579285	0.65878	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.7	3.82	0.43975	.	0.258733	0.45867	N	0.000333	T	0.60843	0.2300	M	0.80616	2.505	0.46981	D	0.999271	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79784	0.917;0.917;0.993;0.988	T	0.62558	-0.6829	10	0.59425	D	0.04	.	13.5144	0.61533	0.0634:0.0:0.823:0.1135	.	468;468;468;463	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	C	468;468;468;468;463;463;468;131;131	ENSP00000354006:R468C;ENSP00000407341:R468C;ENSP00000366068:R468C;ENSP00000366067:R468C;ENSP00000396672:R463C;ENSP00000354962:R463C;ENSP00000366060:R468C	ENSP00000309693:R131C	R	-	1	0	TRPM6	76617076	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	3.439000	0.52878	0.332000	0.23536	-0.813000	0.03139	CGC	.	.	none		0.433	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77427256	G	A	77427256	3	1	2	1	0	0	0	0	1	0	0	0	16587	1058	37	1	4778	1	TRPM6	9	77427256	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		77427256	63786175	62	371										
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534206	90534206	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agcgtcatcttgtctcccagTgtccaacagggcggaggggg	15	11	3	0	rs2481989		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr9:90534206T>C	ENST00000602681.1	+	0	952							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTCTCCCAGTGTCCAACAGG	0.582																																					p.C76R		Atlas-SNP	.											.	.	.	.	0			c.T226C						PASS	.						153	124	133					9																	90534206		692	1591	2283			441452	exon2			TCCCAGTGTCCAA	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534206T>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	195	17	0.0871795	NM_001145124		Missense_Mutation	SNP	ENST00000602681.1	37																																																																																				.	.	weak		0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		C	90534206	T	C	90534206	1	2	2	0	1	0	0	0	0	0	0	0	5623	1696	59	2		2	FAM75C1	9	90534206	RNA	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	13106950	90534206	50679225	63	372										
OR1L4	254973	hgsc.bcm.edu	37	chr9	125486717	125486717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	actcatgctattgggttcttGcagcatctcccacctacatt	6	13	3	0	rs76170289		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr9:125486717G>A	ENST00000259466.1	+	1	449	c.449G>A	c.(448-450)tGc>tAc	p.C150Y		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTGGGTTCTTGCAGCATCTCC	0.502																																					p.C150Y		Atlas-SNP	.											OR1L4,right_upper_lobe,carcinoma,-1,1	OR1L4	38	1	0			c.G449A						scavenged	.						230	184	199					9																	125486717		2203	4300	6503	SO:0001583	missense	254973	exon1			GTTCTTGCAGCAT		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.449G>A	9.37:g.125486717G>A	ENSP00000259466:p.Cys150Tyr	Somatic	94	4	0.0425532		WXS	Illumina HiSeq	Phase_I	76	11	0.144737	NM_001005235	Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.359846	0.41801	.	.	ENSG00000136939	ENST00000259466	T	0.35605	1.3	4.01	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.102403	0.44483	D	0.000453	T	0.26521	0.0648	N	0.01146	-0.985	0.37012	D	0.89577	D	0.89917	1.0	D	0.91635	0.999	T	0.43621	-0.9380	10	0.72032	D	0.01	-25.1842	7.3285	0.26569	0.0988:0.1739:0.7273:0.0	.	150	Q8NGR5	OR1L4_HUMAN	Y	150	ENSP00000259466:C150Y	ENSP00000259466:C150Y	C	+	2	0	OR1L4	124526538	0.027000	0.19231	1.000000	0.80357	0.767000	0.43475	0.314000	0.19432	2.079000	0.62486	0.298000	0.19748	TGC	.	.	weak		0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			A	125486717	G	A	125486717	3	1	2	1	0	0	0	0	1	0	0	0	10965	1319	46	2	451	2	OR1L4	9	125486717	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	34952511	125486717	15726714	64	373										
NUP214	8021	hgsc.bcm.edu	37	chr9	134073744	134073744	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cccatagcctccagcaccacGtccattgttgctcccggccc	7	20	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr9:134073744G>T	ENST00000359428.5	+	29	5007	c.4863G>T	c.(4861-4863)acG>acT	p.T1621T	NUP214_ENST00000483497.2_Silent_p.T447T|NUP214_ENST00000451030.1_Silent_p.T1622T|NUP214_ENST00000411637.2_Silent_p.T1611T			P35658	NU214_HUMAN	nucleoporin 214kDa	1621	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCACCACGTCCATTGTTG	0.577			T	"DEK, SET, ABL1"	"AML, T-ALL"																																p.T1621T	Pancreas(4;24 48 25510 30394 32571)	Atlas-SNP	.		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	NUP214,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	NUP214	166	1	0			c.G4863T						scavenged	.						134	117	123					9																	134073744		2203	4300	6503	SO:0001819	synonymous_variant	8021	exon29			CACCACGTCCATT	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4863G>T	9.37:g.134073744G>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	65	2	0.0307692	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																			.	.	none		0.577	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		T	134073744	G	T	134073744	2	4	2	1	0	0	0	0	0	0	0	1	10762	1132	40	4		4	NUP214	9	134073744	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	8587027	134073744	7139687	65	374										
TUBB8	347688	hgsc.bcm.edu	37	chr10	95167	95167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tgcccgatctgcgtgagcacGatctccctcatggccaaggc	11	15	3	1	rs202227666	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr10:95167G>A	ENST00000309812.4	-	1	74	c.12C>T	c.(10-12)atC>atT	p.I4I	TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000332708.5_Silent_p.I4I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	4					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCGTGAGCACGATCTCCCTCA	0.667																																					p.I4I	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,colon,carcinoma,-2,2	TUBB8	62	2	0			c.C12T						scavenged	.						18	17	17					10																	95167		2197	4294	6491	SO:0001819	synonymous_variant	347688	exon1			GAGCACGATCTCC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.12C>T	10.37:g.95167G>A		Somatic	99	4	0.040404		WXS	Illumina HiSeq	Phase_I	108	4	0.037037	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			G|0.980;A|0.019	0.019	strong		0.667	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	95167	G	A	95167	2	1	2	1	0	0	0	0	0	0	0	1	16758	1048	37	1		1	TUBB8	10	95167	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		95167	135439580	66	375										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	289	1	0.00346021		WXS	Illumina HiSeq	Phase_I	223	5	0.0224215	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	2	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	135343766	135438933	95814	67	376										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135439077	135439077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gatcttgattttttattcaaTgacaagctgcactccttttc	5	9	2	2	rs201483744		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr10:135439077T>C	ENST00000425520.1	-	4	415	c.363A>G	c.(361-363)tcA>tcG	p.S121S	FRG2B_ENST00000443774.1_Silent_p.S122S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	121						nucleus (GO:0005634)		p.S122S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTTATTCAATGACAAGCTGC	0.517																																					p.S121S		Atlas-SNP	.											FRG2B,NS,carcinoma,0,1	FRG2B	47	1	1	Substitution - coding silent(1)	kidney(1)	c.A363G						scavenged	.						33	40	37					10																	135439077		2128	4248	6376	SO:0001819	synonymous_variant	441581	exon4			ATTCAATGACAAG	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.363A>G	10.37:g.135439077T>C		Somatic	167	5	0.0299401		WXS	Illumina HiSeq	Phase_I	138	7	0.0507246	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.500;A|0.500	0.500	alt		0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439077	T	C	135439077	2	2	2	1	0	0	0	0	0	0	0	1	6047	1451	51	2		2	FRG2B	10	135439077	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	144	135439077	95670	68	377										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	557	24	0.043088		WXS	Illumina HiSeq	Phase_I	405	18	0.0444444	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	2	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		1016849	133989667	69	378	10	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	549	24	0.0437158		WXS	Illumina HiSeq	Phase_I	402	16	0.039801	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	2	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	2	1016851	133989665	70	379	10	2								
MUC2	4583	hgsc.bcm.edu	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	6	21	0	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank	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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2	614	1	0			c.C4790T						scavenged	.						47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	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.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile	Somatic	34	2	0.0588235		WXS	Illumina HiSeq	Phase_I	43	6	0.139535	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA	.	.	none		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092971	C	T	1092971	3	4	2	1	0	0	0	0	1	0	0	0	9975	478	17	2	4908	2	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	76120	1092971	133913545	71	380										
FOLH1	2346	hgsc.bcm.edu	37	chr11	49186274	49186274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tacctcttttgttaggttgtGtaccaagctgtacatcagcg	9	9	2	0	rs61886492	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:49186274G>A	ENST00000256999.2	-	13	1683	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	FOLH1_ENST00000356696.3_Missense_Mutation_p.H475Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.H460Y|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.H460Y|FOLH1_ENST00000343844.4_Missense_Mutation_p.H167Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	475	NAALADase.		H -> Y (can be associated with lower folate and higher homocysteine levels; dbSNP:rs61886492). {ECO:0000269|PubMed:11092759}.		folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTAGGTTGTGTACCAAGCTG	0.289													A|||	145	0.0289537	0.0333	0.0274	5008	,	,		18035	0.001		0.0507	False		,,,				2504	0.0307				p.H475Y		Atlas-SNP	.											FOLH1,parietal_lobe,glioma,0,1	FOLH1	141	1	0			c.C1423T	GRCh37	CM002779	FOLH1	M	rs61886492	scavenged	.	A	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS	121,4273	766.3+/-413.4	0,121,2076	41	42	42		1423,1378,1378,499,1423	3.5	1	11	dbSNP_129	42	438,8156	771.0+/-407.7	14,410,3873	yes	missense,missense,missense,missense,missense	FOLH1	NM_001014986.1,NM_001193471.1,NM_001193472.1,NM_001193473.1,NM_004476.1	83,83,83,83,83	14,531,5949	AA,AG,GG		5.0966,2.7538,4.304	benign,benign,benign,benign,benign	475/720,460/736,460/705,167/443,475/751	49186274	559,12429	2197	4297	6494	SO:0001583	missense	2346	exon13			GGTTGTGTACCAA	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1423C>T	11.37:g.49186274G>A	ENSP00000256999:p.His475Tyr	Somatic	622	15	0.0241158		WXS	Illumina HiSeq	Phase_I	580	18	0.0310345	NM_004476	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	64	0.029304029304029304	17	0.034552845528455285	9	0.024861878453038673	1	0.0017482517482517483	37	0.048812664907651716	A	0.089	-1.170406	0.01660	0.027538	0.050966	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.55	3.55	0.40652	.	0.000000	0.49305	N	0.000155	T	0.00936	0.0031	N	0.00166	-1.94	0.09310	N	0.999995	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	0.35301	-0.9794	10	0.02654	T	1	.	7.0296	0.24960	0.8847:0.0:0.1153:0.0	rs61886492	460;460;475;475	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Y	475;475;460;167;460;478	ENSP00000256999:H475Y;ENSP00000349129:H475Y;ENSP00000344131:H460Y;ENSP00000344086:H167Y;ENSP00000431463:H460Y	ENSP00000256999:H475Y	H	-	1	0	FOLH1	49142850	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.437000	0.66544	0.460000	0.27045	-0.720000	0.03607	CAC	G|0.962;A|0.038	0.038	strong		0.289	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		A	49186274	G	A	49186274	3	1	2	1	0	0	0	0	1	0	0	0	5979	1377	48	2	857	2	FOLH1	11	49186274	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	48093303	49186274	85820242	72	381										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978341	58978341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtgataacaacagccagaatGgtggtgacccccactgtgac	11	11	0	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:58978341G>A	ENST00000361050.3	-	1	2083	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	666						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGCCAGAATGGTGGTGACCC	0.552																																					p.T666T		Atlas-SNP	.											.	MPEG1	72	.	0			c.C1998T						PASS	.						119	125	123					11																	58978341		2046	4179	6225	SO:0001819	synonymous_variant	219972	exon1			CAGAATGGTGGTG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1998C>T	11.37:g.58978341G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	138	11	0.0797101	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																			.	.	none		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58978341	G	A	58978341	2	1	2	1	0	0	0	0	0	0	0	1	9723	1335	47	2		2	MPEG1	11	58978341	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	9792067	58978341	76028175	73	382			1	3		3	3	400	G		1.355999e-06
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978525	58978525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ctatgacagtattggtggcaGcctgactcatgaggggtggc	15	8	1	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:58978525G>A	ENST00000361050.3	-	1	1899	c.1814C>T	c.(1813-1815)gCt>gTt	p.A605V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	605						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATTGGTGGCAGCCTGACTCAT	0.572																																					p.A605V		Atlas-SNP	.											.	MPEG1	72	.	0			c.C1814T						PASS	.						103	110	108					11																	58978525		1949	4129	6078	SO:0001583	missense	219972	exon1			GTGGCAGCCTGAC	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1814C>T	11.37:g.58978525G>A	ENSP00000354335:p.Ala605Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	108	43	0.398148	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285390	0.01387	.	.	ENSG00000197629	ENST00000361050	T	0.23147	1.92	5.69	2.76	0.32466	.	0.496999	0.22900	N	0.054275	T	0.12860	0.0312	N	0.21142	0.635	0.23559	N	0.997413	B	0.10296	0.003	B	0.08055	0.003	T	0.32402	-0.9908	10	0.13108	T	0.6	-5.3059	4.8432	0.13501	0.2569:0.1569:0.5862:0.0	.	605	Q2M385	MPEG1_HUMAN	V	605	ENSP00000354335:A605V	ENSP00000354335:A605V	A	-	2	0	MPEG1	58735101	0.011000	0.17503	1.000000	0.80357	0.389000	0.30415	0.242000	0.18087	0.316000	0.23135	0.655000	0.94253	GCT	.	.	none		0.572	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58978525	G	A	58978525	3	1	2	1	0	0	0	0	1	0	0	0	9723	971	34	2	340	2	MPEG1	11	58978525	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	184	58978525	76027991	74	383			1	3		3	3	400	G		1.355999e-06
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978740	58978740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agggggttcccaactgtgcaGctaaagaacccgccaaaggg	13	11	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:58978740G>A	ENST00000361050.3	-	1	1684	c.1599C>T	c.(1597-1599)agC>agT	p.S533S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	533						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAACTGTGCAGCTAAAGAACC	0.537																																					p.S533S		Atlas-SNP	.											MPEG1,NS,lymphoid_neoplasm,0,2	MPEG1	72	2	0			c.C1599T						PASS	.						40	43	42					11																	58978740		1837	4086	5923	SO:0001819	synonymous_variant	219972	exon1			TGTGCAGCTAAAG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1599C>T	11.37:g.58978740G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	99	6	0.0606061	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																			.	.	none		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58978740	G	A	58978740	2	1	2	1	0	0	0	0	0	0	0	1	9723	962	34	2		2	MPEG1	11	58978740	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	215	58978740	76027776	75	384			1	3		3	3	400	G		1.355999e-06
ARAP1	116985	hgsc.bcm.edu	37	chr11	72397100	72397100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cactcacagacagagggtccGcggtgaaggcagccacactc	12	14	1	3	rs371806185	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:72397100G>T	ENST00000393609.3	-	34	4524	c.4322C>A	c.(4321-4323)gCg>gAg	p.A1441E	ARAP1_ENST00000426523.1_Missense_Mutation_p.A1185E|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.A1430E|ARAP1_ENST00000334211.8_Missense_Mutation_p.A1196E|ARAP1_ENST00000429686.1_Missense_Mutation_p.A1124E|ARAP1_ENST00000393605.3_Missense_Mutation_p.A1201E|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Missense_Mutation_p.A1430E	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1441					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGAGGGTCCGCGGTGAAGGC	0.617																																					p.A1441E	Ovarian(102;1198 1520 13195 17913 37529)	Atlas-SNP	.											ARAP1_ENST00000393609,colon,carcinoma,0,4	ARAP1	168	4	0			c.C4322A						scavenged	.						42	50	47					11																	72397100		2199	4293	6492	SO:0001583	missense	116985	exon34			GGGTCCGCGGTGA	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.4322C>A	11.37:g.72397100G>T	ENSP00000377233:p.Ala1441Glu	Somatic	183	1	0.00546448		WXS	Illumina HiSeq	Phase_I	127	3	0.023622	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662630	0.67700	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.06371	3.31;3.31;3.32;3.37;3.31;3.37;3.34	5.25	5.25	0.73442	.	0.562374	0.18019	N	0.154315	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.31054	0.259;0.22;0.082;0.306;0.253	B;B;B;B;B	0.37692	0.09;0.044;0.095;0.131;0.256	T	0.37197	-0.9716	10	0.87932	D	0	.	11.3285	0.49463	0.0842:0.0:0.9158:0.0	.	1185;1124;1430;1441;1201	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	E	1430;1430;1201;1196;1441;1185;1124	ENSP00000352332:A1430E;ENSP00000390461:A1430E;ENSP00000377230:A1201E;ENSP00000335506:A1196E;ENSP00000377233:A1441E;ENSP00000392264:A1185E;ENSP00000403127:A1124E	ENSP00000335506:A1196E	A	-	2	0	ARAP1	72074748	0.857000	0.29778	0.020000	0.16555	0.602000	0.36980	5.115000	0.64655	2.638000	0.89438	0.555000	0.69702	GCG	.	.	alt		0.617	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		T	72397100	G	T	72397100	3	4	2	1	0	0	0	0	1	0	0	0	838	1087	38	4	38	4	ARAP1	11	72397100	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	13418360	72397100	62609416	76	385										
ARAP1	116985	hgsc.bcm.edu	37	chr11	72408662	72408662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cctccttcgctccaccagcaCcagcacctggttctcactgt	6	19	1	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:72408662C>T	ENST00000393609.3	-	20	2972	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M|ARAP1_ENST00000359373.5_Missense_Mutation_p.V924M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	924					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCACCAGCACCAGCACCTGG	0.637																																					p.V924M	Ovarian(102;1198 1520 13195 17913 37529)	Atlas-SNP	.											.	ARAP1	168	.	0			c.G2770A						PASS	.						108	94	99					11																	72408662		2200	4293	6493	SO:0001583	missense	116985	exon20			CCAGCACCAGCAC	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2770G>A	11.37:g.72408662C>T	ENSP00000377233:p.Val924Met	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	87	7	0.0804598	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694061	0.88735	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.93	4.93	0.64822	Pleckstrin homology domain (1);	0.133016	0.49916	D	0.000132	T	0.48926	0.1527	L	0.54323	1.7	0.41335	D	0.987265	P;D;P;P;P	0.69078	0.843;0.997;0.881;0.843;0.903	P;P;P;P;P	0.61533	0.779;0.845;0.746;0.677;0.89	T	0.52019	-0.8631	10	0.87932	D	0	.	17.0897	0.86618	0.0:1.0:0.0:0.0	.	679;618;924;924;684	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	924;924;684;679;924;679;618;212;212	ENSP00000352332:V924M;ENSP00000390461:V924M;ENSP00000377230:V684M;ENSP00000335506:V679M;ENSP00000377233:V924M;ENSP00000392264:V679M;ENSP00000403127:V618M;ENSP00000411452:V212M;ENSP00000399118:V212M	ENSP00000335506:V679M	V	-	1	0	ARAP1	72086310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.823000	0.48081	2.435000	0.82474	0.563000	0.77884	GTG	.	.	none		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		T	72408662	C	T	72408662	3	4	2	1	0	0	0	0	1	0	0	0	838	507	18	2	1646	2	ARAP1	11	72408662	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	11562	72408662	62597854	77	386										
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789317	117789317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agagccggagatgcccgggcTggagatgcctgggctggaga	19	9	0	4	rs201746372|rs58754377|rs201369736		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:117789317T>C	ENST00000430170.2	-	2	345	c.258A>G	c.(256-258)ccA>ccG	p.P86P	TMPRSS13_ENST00000524993.1_Silent_p.P86P|TMPRSS13_ENST00000445164.2_Silent_p.P86P|TMPRSS13_ENST00000526090.1_Silent_p.P86P|TMPRSS13_ENST00000528626.1_Silent_p.P86P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGCCCGGGCTGGAGATGCCT	0.652																																					p.P86P		Atlas-SNP	.											TMPRSS13,caecum,carcinoma,0,1	TMPRSS13	75	1	1	Deletion - In frame(1)	urinary_tract(1)	c.A258G						scavenged	.						34	41	38					11																	117789317		1955	4135	6090	SO:0001819	synonymous_variant	84000	exon2			CCGGGCTGGAGAT	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.258A>G	11.37:g.117789317T>C		Somatic	57	1	0.0175439		WXS	Illumina HiSeq	Phase_I	56	4	0.0714286	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																			.	.	weak		0.652	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		C	117789317	T	C	117789317	2	2	2	1	0	0	0	0	0	0	0	1	16242	1567	55	3		3	TMPRSS13	11	117789317	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	45380655	117789317	17217199	78	387										
CXCR5	643	hgsc.bcm.edu	37	chr11	118765330	118765331	+	Frame_Shift_Del	DEL	TC	TC	-													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cctagctggcgcaggagcagTctctctgagtcagagaatgc							TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:118765330_118765331delTC	ENST00000292174.4	+	2	1253_1254	c.1077_1078delTC	c.(1075-1080)agtctcfs	p.L360fs	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	360					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCAGGAGCAGTCTCTCTGAGTC	0.599																																					p.359_359del		Atlas-Indel	.											.	CXCR5	34	.	0			c.1076_1077del						PASS	.																																			SO:0001589	frameshift_variant	643	exon2			.	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.1077_1078delTC	11.37:g.118765334_118765335delTC	ENSP00000292174:p.Leu360fs	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	34	11	0.323529	NM_001716	Q14811	Frame_Shift_Del	DEL	ENST00000292174.4	37	CCDS8402.1																																																																																			.	.	none		0.599	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		-	118765331	TC	-	118765330	7	5	2	1	0	1	0	1	0	0	0	0	4094	1664	58	0	1083	0	CXCR5	11	118765330	Frame_Shift_Del	DEL	TC	TCGA-FA-A4BB-01A-11D-A31X-10	976013	118765330	16241186	79	388										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886796	123886796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gccctactgtggacccaaccAgatccagcactacttctgtg	8	15	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr11:123886796A>G	ENST00000320891.4	+	1	515	c.515A>G	c.(514-516)cAg>cGg	p.Q172R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGACCCAACCAGATCCAGCAC	0.557																																					p.Q172R		Atlas-SNP	.											OR10G4,NS,carcinoma,+1,1	OR10G4	77	1	0			c.A515G						scavenged	.						167	148	154					11																	123886796		2201	4287	6488	SO:0001583	missense	390264	exon1			CCAACCAGATCCA	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.515A>G	11.37:g.123886796A>G	ENSP00000325076:p.Gln172Arg	Somatic	183	4	0.0218579		WXS	Illumina HiSeq	Phase_I	184	6	0.0326087	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	a	0.521	-0.862106	0.02610	.	.	ENSG00000254737	ENST00000320891	T	0.00099	8.73	3.33	-0.69	0.11309	GPCR, rhodopsin-like superfamily (1);	0.568844	0.14743	N	0.301047	T	0.00073	0.0002	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.05971	-1.0853	10	0.17369	T	0.5	.	4.3343	0.11078	0.5939:0.0:0.1866:0.2195	.	172	Q8NGN3	O10G4_HUMAN	R	172	ENSP00000325076:Q172R	ENSP00000325076:Q172R	Q	+	2	0	OR10G4	123392006	0.000000	0.05858	0.142000	0.22268	0.212000	0.24457	-0.225000	0.09151	-0.243000	0.09653	-1.544000	0.00907	CAG	.	.	none		0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		G	123886796	A	G	123886796	3	3	2	1	0	0	0	0	1	0	0	0	10901	188	7	3	517	3	OR10G4	11	123886796	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	5121466	123886796	11119720	80	389										
ATN1	1822	hgsc.bcm.edu	37	chr12	7045924	7045924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cagcagcagcagcagcagcaGcagcagcagcagcatcacgg	13	14	1	0	rs199988271		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:7045924G>T	ENST00000356654.4	+	5	1731	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q498H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	498	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.637																																					p.Q498H		Atlas-SNP	.											ATN1,colon,carcinoma,0,1	ATN1	95	1	0			c.G1494T						scavenged	.						43	53	49					12																	7045924		2201	4297	6498	SO:0001583	missense	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1494G>T	12.37:g.7045924G>T	ENSP00000349076:p.Gln498His	Somatic	41	2	0.0487805		WXS	Illumina HiSeq	Phase_I	36	3	0.0833333	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.273578	0.00257	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	1.44	-2.88	0.05682	.	.	.	.	.	T	0.24392	0.0591	N	0.22421	0.69	0.09310	N	1	P	0.40970	0.734	B	0.30401	0.115	T	0.19353	-1.0308	9	0.17832	T	0.49	.	3.3676	0.07208	0.2981:0.2446:0.4573:0.0	.	498	P54259	ATN1_HUMAN	H	498;498;498;83	ENSP00000349076:Q498H;ENSP00000379915:Q498H;ENSP00000441744:Q498H	ENSP00000229279:Q83H	Q	+	3	2	ATN1	6916185	0.175000	0.23083	0.269000	0.24586	0.334000	0.28698	-0.489000	0.06490	-0.760000	0.04677	0.109000	0.15622	CAG	G|0.999;A|0.001	.	alt		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045924	G	T	7045924	3	4	2	1	0	0	0	0	1	0	0	0	1111	962	34	4	1508	4	ATN1	12	7045924	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		7045924	126805971	81	390										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588444	10588444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cccttgatgattcagggaagGattttgaagatttaattcta	9	5	2	4	rs111237999	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:10588444G>C	ENST00000539033.1	-	1	156	c.142C>G	c.(142-144)Cct>Gct	p.P48A	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48A|KLRC2_ENST00000381902.2_Missense_Mutation_p.P48A																							TTCAGGGAAGGATTTTGAAGA	0.363													G|||	125	0.0249601	0.0386	0.0101	5008	,	,		16153	0.0298		0.0268	False		,,,				2504	0.0102				p.P48A		Atlas-SNP	.											KLRC2,NS,carcinoma,+1,1	KLRC2	29	1	0			c.C142G						scavenged	.						94	104	101					12																	10588444		1994	3988	5982	SO:0001583	missense	3822	exon1			GGGAAGGATTTTG																												ENST00000539033.1:c.142C>G	12.37:g.10588444G>C	ENSP00000437563:p.Pro48Ala	Somatic	104	17	0.163462		WXS	Illumina HiSeq	Phase_I	89	20	0.224719	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.662523	0.00107	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.04119	3.7;3.7;3.7	2.57	-1.4	0.08968	.	0.714893	0.12708	N	0.445758	T	0.01222	0.0040	N	0.00637	-1.305	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46925	-0.9156	10	0.02654	T	1	.	9.8776	0.41213	0.0:0.3246:0.6754:0.0	rs34194304	34;48;48	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	A	48	ENSP00000437563:P48A;ENSP00000371327:P48A;ENSP00000371326:P48A	ENSP00000371326:P48A	P	-	1	0	KLRC2;RP11-277P12.6	10479711	0.000000	0.05858	0.020000	0.16555	0.010000	0.07245	-0.911000	0.04050	-0.034000	0.13713	-1.406000	0.01132	CCT	.	.	weak		0.363	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			C	10588444	G	C	10588444	3	2	2	1	0	0	0	0	1	0	0	0	8416	1174	41	4	577	4	KLRC2	12	10588444	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	3542520	10588444	123263451	82	391										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18691191	18691191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttttgtggaactttgctgtcGtgcttataatattatcagaa	8	5	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:18691191G>A	ENST00000266497.5	+	23	3340	c.3302G>A	c.(3301-3303)cGt>cAt	p.R1101H	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1101H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1142H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1101	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R1101H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTGCTGTCGTGCTTATAAT	0.373																																					p.R1101H		Atlas-SNP	.											PIK3C2G_ENST00000433979,colon,carcinoma,0,2	PIK3C2G	315	2	2	Substitution - Missense(2)	large_intestine(2)	c.G3302A						scavenged	.						79	76	77					12																	18691191		1807	4067	5874	SO:0001583	missense	5288	exon24			GCTGTCGTGCTTA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3302G>A	12.37:g.18691191G>A	ENSP00000266497:p.Arg1101His	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	110	15	0.136364	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806365	0.31961	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.75821	-0.97;-0.97;-0.97	4.21	1.45	0.22620	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.650248	0.14461	N	0.318218	T	0.65048	0.2654	L	0.48935	1.535	0.39991	D	0.975043	B;B;B	0.21071	0.051;0.042;0.015	B;B;B	0.19391	0.025;0.014;0.015	T	0.61178	-0.7115	10	0.72032	D	0.01	-8.2819	7.7154	0.28702	0.339:0.0:0.661:0.0	.	1141;1142;1101	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1101;1101;1142	ENSP00000404845:R1101H;ENSP00000266497:R1101H;ENSP00000445381:R1142H	ENSP00000266497:R1101H	R	+	2	0	PIK3C2G	18582458	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.304000	0.43655	0.346000	0.23899	-0.899000	0.02877	CGT	.	.	none		0.373	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18691191	G	A	18691191	3	1	2	1	0	0	0	0	1	0	0	0	11911	1145	40	1	3392	1	PIK3C2G	12	18691191	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	8102747	18691191	115160704	83	392										
MLL2	8085	hgsc.bcm.edu	37	chr12	49427102	49427102	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cagcatgccctggggcccctGgggtggttgaggggacagct	18	11	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:49427102G>A	ENST00000301067.7	-	39	11385	c.11386C>T	c.(11386-11388)Cag>Tag	p.Q3796*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3796	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGGCCCCTGGGGTGGTTGA	0.657																																					p.Q3796X		Atlas-SNP	.											.	MLL2	1173	.	0			c.C11386T						PASS	.						12	14	14					12																	49427102		1930	4119	6049	SO:0001587	stop_gained	8085	exon39			GCCCCTGGGGTGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11386C>T	12.37:g.49427102G>A	ENSP00000301067:p.Gln3796*	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	41	7	0.170732	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	18.491664	0.99906	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.02	5.02	0.67125	.	0.258092	0.20680	N	0.087663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4938	0.87712	0.0:0.0:1.0:0.0	.	.	.	.	X	3796	.	ENSP00000301067:Q3796X	Q	-	1	0	MLL2	47713369	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	3.379000	0.52440	2.505000	0.84491	0.462000	0.41574	CAG	.	.	none		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49427102	G	A	49427102	4	1	2	1	0	0	0	0	0	1	0	0	9621	1357	47	2	5291	2	MLL2	12	49427102	Nonsense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	30735911	49427102	84424793	84	393										
BAZ2A	11176	hgsc.bcm.edu	37	chr12	56992706	56992706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aatccataggatttttgatgAtgcgccggtacccactcacc	8	12	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:56992706A>C	ENST00000551812.1	-	28	5691	c.5498T>G	c.(5497-5499)aTc>aGc	p.I1833S	BAZ2A_ENST00000379441.3_Missense_Mutation_p.I1803S|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.I1801S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.I1831S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1833	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ATTTTTGATGATGCGCCGGTA	0.532																																					p.I1833S		Atlas-SNP	.											.	BAZ2A	263	.	0			c.T5498G						PASS	.						28	30	30					12																	56992706		1892	4125	6017	SO:0001583	missense	11176	exon28			TTGATGATGCGCC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5498T>G	12.37:g.56992706A>C	ENSP00000446880:p.Ile1833Ser	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	35	5	0.142857	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815359	0.70912	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.81	5.81	0.92471	Bromodomain (6);Bromodomain, conserved site (1);	0.117336	0.53938	D	0.000055	T	0.67363	0.2885	H	0.97564	4.03	0.58432	D	0.999999	P;P;P;P	0.49783	0.879;0.609;0.661;0.928	P;P;P;P	0.52343	0.572;0.521;0.653;0.696	T	0.80049	-0.1545	10	0.87932	D	0	-8.6423	15.5128	0.75798	1.0:0.0:0.0:0.0	.	1831;1829;1833;1806	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	S	1803;1801;1833;765;1831	ENSP00000368754:I1803S;ENSP00000179765:I1801S;ENSP00000446880:I1833S;ENSP00000448760:I765S;ENSP00000447941:I1831S	ENSP00000179765:I1801S	I	-	2	0	BAZ2A	55278973	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	8.604000	0.90877	2.367000	0.80283	0.529000	0.55759	ATC	.	.	none		0.532	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		C	56992706	A	C	56992706	3	2	2	1	0	0	0	0	1	0	0	0	1331	333	12	5	227	5	BAZ2A	12	56992706	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	7565604	56992706	76859189	85	394										
ZDHHC17	23390	hgsc.bcm.edu	37	chr12	77242136	77242136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cagtgttttccacttcatgtGggtggctgtattactcatgt	10	8	2	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:77242136G>T	ENST00000426126.2	+	15	2280	c.1631G>T	c.(1630-1632)tGg>tTg	p.W544L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.W544L|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	544					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CACTTCATGTGGGTGGCTGTA	0.403																																					p.W544L		Atlas-SNP	.											.	ZDHHC17	45	.	0			c.G1631T						PASS	.						205	200	202					12																	77242136		2005	4162	6167	SO:0001583	missense	23390	exon15			TCATGTGGGTGGC	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1631G>T	12.37:g.77242136G>T	ENSP00000403397:p.Trp544Leu	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460578	0.96240	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28902	-1.0029	10	0.87932	D	0	-5.0867	19.5662	0.95393	0.0:0.0:1.0:0.0	.	544	Q8IUH5	ZDH17_HUMAN	L	544	ENSP00000403397:W544L;ENSP00000334868:W544L	ENSP00000334868:W544L	W	+	2	0	ZDHHC17	75766267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.608000	0.88229	0.655000	0.94253	TGG	.	.	none		0.403	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		T	77242136	G	T	77242136	3	4	2	1	0	0	0	0	1	0	0	0	17604	1357	47	4	1689	4	ZDHHC17	12	77242136	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	20249430	77242136	56609759	86	395										
DTX1	1840	hgsc.bcm.edu	37	chr12	113496044	113496044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gatgcctgtgaatggtctggGcttcccaccgcagaacgtgg	14	11	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:113496044G>A	ENST00000257600.3	+	1	550	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	16	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AATGGTCTGGGCTTCCCACCG	0.677																																					p.G16D		Atlas-SNP	.											DTX1,NS,lymphoid_neoplasm,0,1	DTX1	83	1	0			c.G47A						PASS	.						63	52	55					12																	113496044		2202	4299	6501	SO:0001583	missense	1840	exon1			GTCTGGGCTTCCC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.47G>A	12.37:g.113496044G>A	ENSP00000257600:p.Gly16Asp	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	111	9	0.0810811	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862540	0.71949	.	.	ENSG00000135144	ENST00000257600	T	0.12879	2.64	3.89	3.89	0.44902	WWE domain (1);	0.178522	0.35151	U	0.003402	T	0.11495	0.0280	L	0.44542	1.39	0.41096	D	0.985633	P	0.42908	0.793	B	0.38225	0.268	T	0.03728	-1.1009	10	0.51188	T	0.08	-13.5407	8.7963	0.34881	0.107:0.0:0.893:0.0	.	16	Q86Y01	DTX1_HUMAN	D	16	ENSP00000257600:G16D	ENSP00000257600:G16D	G	+	2	0	DTX1	111980427	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	6.846000	0.75399	2.017000	0.59298	0.549000	0.68633	GGC	.	.	none		0.677	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			A	113496044	G	A	113496044	3	1	2	1	0	0	0	0	1	0	0	0	4793	1203	42	2	49	2	DTX1	12	113496044	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	36253908	113496044	20355851	87	396										
SIRT4	23409	hgsc.bcm.edu	37	chr12	120750455	120750455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gccatctgaaaccagatgtcGttttcttcggggacacagtg	11	10	2	2	rs557152464		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:120750455G>A	ENST00000202967.4	+	3	753	c.694G>A	c.(694-696)Gtt>Att	p.V232I	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGATGTCGTTTTCTTCGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19764	0.0		0.0	False		,,,				2504	0.001				p.V232I		Atlas-SNP	.											SIRT4,colon,carcinoma,0,1	SIRT4	29	1	0			c.G694A						PASS	.						73	67	69					12																	120750455		2203	4300	6503	SO:0001583	missense	23409	exon3			GATGTCGTTTTCT	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.694G>A	12.37:g.120750455G>A	ENSP00000202967:p.Val232Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	70	9	0.128571	NM_012240		Missense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315918	0.60524	.	.	ENSG00000089163	ENST00000202967	T	0.53857	0.6	4.5	1.39	0.22231	.	0.235849	0.41712	N	0.000829	T	0.51500	0.1678	M	0.69358	2.11	0.29480	N	0.856439	P	0.48589	0.912	P	0.46850	0.529	T	0.51694	-0.8673	10	0.46703	T	0.11	-7.8021	7.933	0.29914	0.4701:0.0:0.5299:0.0	.	232	Q9Y6E7	SIRT4_HUMAN	I	232	ENSP00000202967:V232I	ENSP00000202967:V232I	V	+	1	0	SIRT4	119234838	0.999000	0.42202	0.313000	0.25210	0.655000	0.38815	3.571000	0.53841	0.196000	0.20367	-0.201000	0.12746	GTT	.	.	none		0.527	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		A	120750455	G	A	120750455	3	1	2	1	0	0	0	0	1	0	0	0	14340	1145	40	1	700	1	SIRT4	12	120750455	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	7254411	120750455	13101440	88	397										
KDM2B	84678	hgsc.bcm.edu	37	chr12	121882313	121882313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cagcagtttggaagctcgtcGttgaccacaccctctgactc	9	14	1	2	rs34911648	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:121882313G>A	ENST00000377071.4	-	15	2202	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	KDM2B_ENST00000377069.4_Silent_p.N679N|KDM2B_ENST00000542973.1_Silent_p.N78N|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	710					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGCTCGTCGTTGACCACAC	0.617													G|||	75	0.014976	0.0567	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.0				p.N710N		Atlas-SNP	.											.	KDM2B	218	.	0			c.C2130T						PASS	.	G	,	234,4058		6,222,1918	85	90	88		2037,2130	3	1	12	dbSNP_126	88	1,8465		0,1,4232	no	coding-synonymous,coding-synonymous	KDM2B	NM_001005366.1,NM_032590.4	,	6,223,6150	AA,AG,GG		0.0118,5.452,1.842	,	679/1266,710/1337	121882313	235,12523	2146	4233	6379	SO:0001819	synonymous_variant	84678	exon15			CTCGTCGTTGACC	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2130C>T	12.37:g.121882313G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	52	11	0.211538	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	CCDS41850.1																																																																																			G|0.990;A|0.010	0.010	strong		0.617	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	121882313	G	A	121882313	2	1	2	1	0	0	0	0	0	0	0	1	8125	1136	40	1		1	KDM2B	12	121882313	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1131858	121882313	11969582	89	398										
EP400	57634	hgsc.bcm.edu	37	chr12	132547068	132547069	+	In_Frame_Ins	INS	-	-	GCA													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gcacatttccagcttctcagINSgcagcagcagcagcagcagc					rs68030464|rs367737531|rs60930033		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr12:132547068_132547069insGCA	ENST00000333577.4	+	48	8373_8374	c.8264_8265insGCA	c.(8263-8268)aggcag>agGCAgcag	p.2784_2785insQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2711_2712insQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2667_2668insQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2747_2748insQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2748_2749insQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2784	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R2718K(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCTTCTCAGgcagcagcagc	0.564																																					p.R2719delinsRQ		Atlas-Indel	.											EP400,NS,carcinoma,0,2	EP400	370	2	2	Substitution - Missense(2)	lung(2)	c.8156_8157insGCA						PASS	.																																			SO:0001652	inframe_insertion	57634	exon47			.	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283_8285dupGCA	12.37:g.132547075_132547077dupGCA	ENSP00000333602:p.Gln2784_Gln2784dup	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	16	0.372093	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37																																																																																				.	.	weak		0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		GCA	132547069	-	GCA	132547068	7	5	2	1	0	1	1	0	0	0	0	0	5149	1000	35	0	8335	0	EP400	12	132547068	In_Frame_Ins	INS	-	TCGA-FA-A4BB-01A-11D-A31X-10	10664755	132547068	1304827	90	399										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	560	8	0.0142857		WXS	Illumina HiSeq	Phase_I	517	8	0.0154739	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	2	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10		20056679	95113199	91	400										
POTEG	404785	hgsc.bcm.edu	37	chr14	19553571	19553571	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttctggagaccacgacgattCtgctatgaagacactcagga	10	10	3	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr14:19553571C>A	ENST00000409832.3	+	1	207	c.155C>A	c.(154-156)tCt>tAt	p.S52Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	52								p.S52F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGACGATTCTGCTATGAAG	0.612																																					p.S52Y		Atlas-SNP	.											POTEG,NS,carcinoma,0,1	POTEG	118	1	1	Substitution - Missense(1)	cervix(1)	c.C155A						scavenged	.						103	143	129					14																	19553571		2198	4286	6484	SO:0001583	missense	404785	exon1			ACGATTCTGCTAT		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.155C>A	14.37:g.19553571C>A	ENSP00000386971:p.Ser52Tyr	Somatic	681	3	0.00440529		WXS	Illumina HiSeq	Phase_I	541	13	0.0240296	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	9.049	0.991636	0.18966	.	.	ENSG00000222036	ENST00000409832	T	0.38077	1.16	.	.	.	.	.	.	.	.	T	0.48223	0.1488	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.30995	-0.9959	7	0.87932	D	0	.	.	.	.	.	52	Q6S5H5	POTEG_HUMAN	Y	52	ENSP00000386971:S52Y	ENSP00000386971:S52Y	S	+	2	0	POTEG	18623571	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	0.411000	0.21115	0.162000	0.19483	0.165000	0.16767	TCT	.	.	none		0.612	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553571	C	A	19553571	3	1	2	1	0	0	0	0	1	0	0	0	12266	913	32	4	157	4	POTEG	14	19553571	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		19553571	87795969	92	401										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	31	4	0.129032	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	2	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	4191258	23744829	83604711	93	402										
BAZ1A	11177	hgsc.bcm.edu	37	chr14	35231204	35231204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccatgactgtggcgagtagaAcgactggcaattcttaaaga	11	8	1	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr14:35231204A>G	ENST00000382422.2	-	23	4329	c.4002T>C	c.(4000-4002)cgT>cgC	p.R1334R	BAZ1A_ENST00000358716.4_Silent_p.R1302R|BAZ1A_ENST00000360310.1_Silent_p.R1334R			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1334					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GGCGAGTAGAACGACTGGCAA	0.423																																					p.R1334R		Atlas-SNP	.											.	BAZ1A	128	.	0			c.T4002C						PASS	.						188	179	182					14																	35231204		2203	4300	6503	SO:0001819	synonymous_variant	11177	exon24			AGTAGAACGACTG	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4002T>C	14.37:g.35231204A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	140	12	0.0857143	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	CCDS9651.1																																																																																			.	.	none		0.423	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			G	35231204	A	G	35231204	2	3	2	1	0	0	0	0	0	0	0	1	1329	30	2	2		2	BAZ1A	14	35231204	Silent	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	11486375	35231204	72118336	94	403										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48058789	48058791	+	Intron	DEL	CTT	CTT	-													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tgaaggctgttaaccgaagaCttctttgctttccataacca							TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr15:48058789_48058791delCTT	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_In_Frame_Del_p.F556del|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000358066.4_In_Frame_Del_p.F556del|SEMA6D_ENST00000558014.1_In_Frame_Del_p.F556del|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000389432.2_In_Frame_Del_p.F556del	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TAACCGAAGACTTCTTTGCTTTC	0.429																																					p.554_555del		Atlas-Indel	.											.	SEMA6D	322	.	0			c.1661_1663del						PASS	.																																			SO:0001627	intron_variant	80031	exon16			.	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-22CTT>-	15.37:g.48058792_48058794delCTT		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	116	11	0.0948276	NM_020858	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	In_Frame_Del	DEL	ENST00000316364.5	37	CCDS32225.1																																																																																			.	.	none		0.429	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		-	48058791	CTT	-	48058789	6	5	2	0	1	1	0	1	0	0	0	0	14042	564	20	0		0	SEMA6D	15	48058789	Intron	DEL	CTT	TCGA-FA-A4BB-01A-11D-A31X-10		48058789	54472603	95	404										
HERC1	8925	hgsc.bcm.edu	37	chr15	63970537	63970537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aagtaagtctcggggtgtgcCacgcatctgcatatcacaaa	10	10	3	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr15:63970537C>T	ENST00000443617.2	-	37	6664	c.6577G>A	c.(6577-6579)Ggc>Agc	p.G2193S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2193	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGGGGTGTGCCACGCATCTGC	0.433																																					p.G2193S		Atlas-SNP	.											.	HERC1	624	.	0			c.G6577A						PASS	.						29	27	28					15																	63970537		1945	4132	6077	SO:0001583	missense	8925	exon37			GTGTGCCACGCAT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6577G>A	15.37:g.63970537C>T	ENSP00000390158:p.Gly2193Ser	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	79	10	0.126582	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012108	0.93346	.	.	ENSG00000103657	ENST00000443617	T	0.59224	0.28	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	N	0.20685	0.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66881	-0.5811	10	0.46703	T	0.11	.	19.8247	0.96612	0.0:1.0:0.0:0.0	.	2193	Q15751	HERC1_HUMAN	S	2193	ENSP00000390158:G2193S	ENSP00000390158:G2193S	G	-	1	0	HERC1	61757590	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.696000	0.92011	0.655000	0.94253	GGC	.	.	none		0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63970537	C	T	63970537	3	4	2	1	0	0	0	0	1	0	0	0	7057	594	21	2	8176	2	HERC1	15	63970537	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	15911748	63970537	38560855	96	405										
CTSH	1512	hgsc.bcm.edu	37	chr15	79215405	79215405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gatcccatttttttctccatAcccaacagccagtactgcat	4	14	1	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr15:79215405A>G	ENST00000220166.5	-	11	971	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	288					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTTTCTCCATACCCAACAGCC	0.453																																					p.Y288H		Atlas-SNP	.											.	CTSH	23	.	0			c.T862C						PASS	.						94	95	95					15																	79215405		2196	4293	6489	SO:0001583	missense	1512	exon11			CTCCATACCCAAC	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.862T>C	15.37:g.79215405A>G	ENSP00000220166:p.Tyr288His	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	104	14	0.134615	NM_004390	B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284657	0.80803	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	T	0.37411	1.2	4.65	4.65	0.58169	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	H	0.97783	4.075	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80491	-0.1359	10	0.87932	D	0	.	10.3628	0.44006	1.0:0.0:0.0:0.0	.	288;276	P09668;E9PBP2	CATH_HUMAN;.	H	288;276	ENSP00000220166:Y288H	ENSP00000220166:Y288H	Y	-	1	0	CTSH	77002460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.492000	0.81482	1.959000	0.56917	0.402000	0.26972	TAT	.	.	none		0.453	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		G	79215405	A	G	79215405	3	3	2	1	0	0	0	0	1	0	0	0	4036	391	14	2	153	2	CTSH	15	79215405	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	15244868	79215405	23315987	97	406										
CPEB1	64506	hgsc.bcm.edu	37	chr15	83218322	83218322	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agcattccatgcagagcaccGacaaacaccgtcctgctggg	10	14	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr15:83218322G>T	ENST00000562019.1	-	9	1618	c.1302C>A	c.(1300-1302)gtC>gtA	p.V434V	CPEB1_ENST00000568128.1_Silent_p.V429V|RP11-152F13.10_ENST00000562833.1_Nonsense_Mutation_p.S164*|CPEB1_ENST00000423133.2_Silent_p.V354V|CPEB1_ENST00000568757.1_Silent_p.V354V|CPEB1_ENST00000563800.1_Silent_p.V456V|CPEB1_ENST00000261723.6_Silent_p.V432V|CPEB1_ENST00000398592.2_Silent_p.V203V|CPEB1_ENST00000564522.1_Silent_p.V354V|CPEB1_ENST00000398591.2_Silent_p.V359V|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Silent_p.V354V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	434	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.V359V(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGAGCACCGACAAACACCG	0.542																																					p.V429V		Atlas-SNP	.											CPEB1,colon,carcinoma,0,1	CPEB1	114	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C1287A						scavenged	.						73	73	73					15																	83218322		2022	4182	6204	SO:0001819	synonymous_variant	64506	exon9			AGCACCGACAAAC	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1302C>A	15.37:g.83218322G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	85	2	0.0235294	NM_030594	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Silent	SNP	ENST00000562019.1	37																																																																																				.	.	none		0.542	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		T	83218322	G	T	83218322	2	4	2	1	0	0	0	0	0	0	0	1	3800	1045	37	4		4	CPEB1	15	83218322	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	4002917	83218322	19313070	98	407										
CES1	1066	hgsc.bcm.edu	37	chr16	55862883	55862883	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	caggtggcgaggacggatgcCctgctggacatggagaataa	16	8	0	1	rs3826190		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr16:55862883C>A	ENST00000361503.4	-	2	183	c.53G>T	c.(52-54)gGg>gTg	p.G18V	CES1_ENST00000360526.3_Missense_Mutation_p.G19V|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Splice_Site_p.G18V			P23141	EST1_HUMAN	carboxylesterase 1	18			G -> GA.		epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.G19V(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GGACGGATGCCCTGCTGGACA	0.522																																					p.G19V	NSCLC(162;1801 2756 42904 52896)	Atlas-SNP	.											CES1_ENST00000360526,NS,carcinoma,0,1	CES1	78	1	1	Substitution - Missense(1)	prostate(1)	c.G56T						scavenged	.						38	29	32					16																	55862883		2198	4300	6498	SO:0001630	splice_region_variant	1066	exon2			GGATGCCCTGCTG	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.53-1G>T	16.37:g.55862883C>A		Somatic	38	3	0.0789474		WXS	Illumina HiSeq	Phase_I	20	7	0.35	NM_001025195	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	804	0.36813186813186816	220	0.44715447154471544	142	0.39226519337016574	112	0.1958041958041958	330	0.43535620052770446	.	18.35	3.604104	0.66445	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66995	-0.24;-0.17;-0.17	4.48	3.52	0.40303	Carboxylesterase, type B (1);	8.429180	0.00357	N	0.000020	T	0.00012	0.0000	M	0.64080	1.96	0.58432	D	0.999993	D;D;D	0.63046	0.992;0.992;0.972	D;D;P	0.70487	0.969;0.958;0.891	T	0.53556	-0.8422	10	0.72032	D	0.01	.	9.5301	0.39189	0.0:0.8943:0.0:0.1057	rs3826190	18;18;19	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	19;18;18	ENSP00000353720:G19V;ENSP00000355193:G18V;ENSP00000390492:G18V	ENSP00000353720:G19V	G	-	2	0	CES1	54420384	0.940000	0.31905	0.780000	0.31762	0.099000	0.18886	1.881000	0.39638	2.051000	0.60960	0.393000	0.25936	GGG	C|0.632;A|0.368	0.368	strong		0.522	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	Missense_Mutation	A	55862883	C	A	55862883	5	1	2	1	0	0	0	0	0	0	1	0	3269	637	22	4	1702	4	CES1	16	55862883	Splice_Site	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		55862883	34491870	99	408										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71004449	71004449	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttctatgagatactgctgatCaaattctaaggaataaaact	6	6	3	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr16:71004449C>A	ENST00000393567.2	-	36	5743	c.5593G>T	c.(5593-5595)Gat>Tat	p.D1865Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1865					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.D1816H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACTGCTGATCAAATTCTAAG	0.443																																					p.D1865Y		Atlas-SNP	.											LOC652153,NS,carcinoma,0,1	HYDIN	788	1	1	Substitution - Missense(1)	ovary(1)	c.G5593T						scavenged	.						37	37	37					16																	71004449		1803	4051	5854	SO:0001583	missense	54768	exon36			GCTGATCAAATTC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5593G>T	16.37:g.71004449C>A	ENSP00000377197:p.Asp1865Tyr	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	51	5	0.0980392	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398623	0.83120	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.42900	0.96	4.65	4.65	0.58169	.	0.000000	0.34411	U	0.003995	T	0.67961	0.2949	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72988	-0.4124	10	0.54805	T	0.06	.	17.4637	0.87626	0.0:1.0:0.0:0.0	.	1864	F8WD23	.	Y	1865;1864	ENSP00000377197:D1865Y	ENSP00000310485:D156Y	D	-	1	0	HYDIN	69561950	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.484000	0.81180	2.311000	0.77944	0.505000	0.49811	GAT	.	.	none		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	71004449	C	A	71004449	3	1	2	1	0	0	0	0	1	0	0	0	7467	826	29	4	9976	4	HYDIN	16	71004449	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	15141566	71004449	19350304	100	409										
AURKB	9212	hgsc.bcm.edu	37	chr17	8108196	8108196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	atgacagggaccatcaggcgAcagattgaagggcagaggga	16	7	1	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:8108196A>G	ENST00000585124.1	-	9	1121	c.1028T>C	c.(1027-1029)gTc>gCc	p.V343A	AURKB_ENST00000578549.1_Missense_Mutation_p.V311A|AURKB_ENST00000316199.6_Missense_Mutation_p.V344A|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.V302A	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	343					abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						CCATCAGGCGACAGATTGAAG	0.572																																					p.V343A	NSCLC(134;1161 2470 43664 51568)	Atlas-SNP	.											.	AURKB	47	.	0			c.T1028C						PASS	.						70	70	70					17																	8108196		2203	4300	6503	SO:0001583	missense	9212	exon9			CAGGCGACAGATT	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.1028T>C	17.37:g.8108196A>G	ENSP00000463999:p.Val343Ala	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_004217	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057435	0.19907	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.70399	-0.48	5.03	0.173	0.15036	.	1.328900	0.05074	N	0.482223	T	0.51584	0.1683	N	0.14661	0.345	0.30620	N	0.758543	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44651	-0.9314	10	0.33940	T	0.23	-10.2184	5.6234	0.17469	0.3103:0.1898:0.4999:0.0	.	343;343	C7G533;Q96GD4	.;AURKB_HUMAN	A	343;302	ENSP00000443869:V302A	ENSP00000313950:V343A	V	-	2	0	AURKB	8048921	0.000000	0.05858	0.026000	0.17262	0.280000	0.26924	-1.102000	0.03332	0.117000	0.18138	0.533000	0.62120	GTC	.	.	none		0.572	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		G	8108196	A	G	8108196	3	3	2	1	0	0	0	0	1	0	0	0	1223	275	10	2	10	2	AURKB	17	8108196	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10		8108196	73087014	101	410										
MYH13	8735	hgsc.bcm.edu	37	chr17	10267752	10267752	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aagcaggctttcttggaatcGaatggacgattttgagcctc	11	8	1	1	rs189377998		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:10267752G>A	ENST00000418404.3	-	2	259	c.96C>T	c.(94-96)ttC>ttT	p.F32F	MYH13_ENST00000252172.4_Silent_p.F32F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	32					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTGGAATCGAATGGACGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19558	0.001		0.0	False		,,,				2504	0.0				p.F32F		Atlas-SNP	.											MYH13_ENST00000252172,NS,carcinoma,0,2	MYH13	533	2	0			c.C96T						PASS	.						121	113	115					17																	10267752		1920	4138	6058	SO:0001819	synonymous_variant	8735	exon3			GGAATCGAATGGA	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.96C>T	17.37:g.10267752G>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	159	19	0.119497	NM_003802	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																			G|1.000;A|0.000	0.000	strong		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10267752	G	A	10267752	2	1	2	1	0	0	0	0	0	0	0	1	10032	1049	37	1		1	MYH13	17	10267752	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	2159556	10267752	70927458	102	411										
NF1	4763	hgsc.bcm.edu	37	chr17	29528446	29528446	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tagatctgcctggctcagaaTtcaccttctacatttcacta	5	12	5	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:29528446T>A	ENST00000358273.4	+	11	1586	c.1203T>A	c.(1201-1203)aaT>aaA	p.N401K	NF1_ENST00000431387.4_Missense_Mutation_p.N401K|NF1_ENST00000356175.3_Missense_Mutation_p.N401K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	401					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTCAGAATTCACCTTCTA	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.N401K		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.T1203A						PASS	.						80	89	86					17																	29528446		2203	4295	6498	SO:0001583	missense	4763	exon11	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	TCAGAATTCACCT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1203T>A	17.37:g.29528446T>A	ENSP00000351015:p.Asn401Lys	Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	312	30	0.0961538	NM_001128147	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223593	0.39300	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.17	3.87	0.44632	Armadillo-type fold (1);	0.167666	0.56097	D	0.000026	T	0.69797	0.3151	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B	0.33413	0.411;0.013;0.031;0.161;0.161	B;B;B;B;B	0.30495	0.08;0.017;0.034;0.116;0.073	T	0.71159	-0.4674	10	0.59425	D	0.04	.	6.7182	0.23314	0.139:0.0845:0.0:0.7765	.	401;401;401;401;401	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	K	401;401;401;67	ENSP00000412921:N401K;ENSP00000351015:N401K;ENSP00000348498:N401K;ENSP00000389907:N67K	ENSP00000348498:N401K	N	+	3	2	NF1	26552572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.032000	0.41127	1.953000	0.56701	0.402000	0.26972	AAT	.	.	none		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29528446	T	A	29528446	3	1	2	1	0	0	0	0	1	0	0	0	10356	1490	52	5	1245	5	NF1	17	29528446	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	19260694	29528446	51666764	103	412										
C17orf79	55352	hgsc.bcm.edu	37	chr17	30179882	30179882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cgagtcccagtcctcattaaAaagatcgccaggctgttcct	8	13	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:30179882A>C	ENST00000302362.6	-	3	471	c.334T>G	c.(334-336)Ttt>Gtt	p.F112V	COPRS_ENST00000378634.2_Missense_Mutation_p.F100V	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	112					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TCCTCATTAAAAAGATCGCCA	0.517																																					p.F112V		Atlas-SNP	.											C17orf79,colon,carcinoma,+1,1	.	.	1	0			c.T334G						scavenged	.						180	185	183					17																	30179882		2203	4300	6503	SO:0001583	missense	55352	exon3			CATTAAAAAGATC	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"cooperator of PRMT5"		"chromosome 17 open reading frame 79"	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.334T>G	17.37:g.30179882A>C	ENSP00000304327:p.Phe112Val	Somatic	94	2	0.0212766		WXS	Illumina HiSeq	Phase_I	84	16	0.190476	NM_018405	A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476405	0.44044	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.40756	1.02;1.02	5.37	4.26	0.50523	.	0.378221	0.22871	N	0.054628	T	0.23210	0.0561	N	0.20986	0.625	0.09310	N	0.999999	P	0.36535	0.557	B	0.34242	0.178	T	0.07558	-1.0766	10	0.27082	T	0.32	-5.3289	4.8505	0.13535	0.8376:0.0:0.1624:0.0	.	112	Q9NQ92	COPR5_HUMAN	V	112;100	ENSP00000304327:F112V;ENSP00000367901:F100V	ENSP00000304327:F112V	F	-	1	0	C17orf79	27203995	0.961000	0.32948	0.156000	0.22583	0.316000	0.28119	2.353000	0.44089	2.030000	0.59900	0.383000	0.25322	TTT	.	.	none		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		C	30179882	A	C	30179882	3	2	2	1	0	0	0	0	1	0	0	0	1884	14	1	5	228	5	C17orf79	17	30179882	Missense_Mutation	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10	651436	30179882	51015328	104	413										
DDX52	11056	hgsc.bcm.edu	37	chr17	35993354	35993354	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttctccaactttccggaagtTagtttactttctctctgaac	5	11	3	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:35993354T>G	ENST00000349699.2	-	3	424	c.381A>C	c.(379-381)ctA>ctC	p.L127L	DDX52_ENST00000394367.3_Silent_p.L19L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	127						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TTCCGGAAGTTAGTTTACTTT	0.348																																					p.L127L		Atlas-SNP	.											.	DDX52	40	.	0			c.A381C						PASS	.						93	95	94					17																	35993354		2202	4298	6500	SO:0001819	synonymous_variant	11056	exon3			GGAAGTTAGTTTA	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.381A>C	17.37:g.35993354T>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	60	9	0.15	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Silent	SNP	ENST00000349699.2	37	CCDS11323.1																																																																																			.	.	none		0.348	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		G	35993354	T	G	35993354	2	3	2	1	0	0	0	0	0	0	0	1	4370	1741	61	5		5	DDX52	17	35993354	Silent	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	5813472	35993354	45201856	105	414										
KRT37	8688	hgsc.bcm.edu	37	chr17	39580747	39580747	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ccatggtgcaacccagagggCatgaggaggtgctgtagaag	16	8	0	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:39580747C>A	ENST00000225550.3	-	1	28	c.29G>T	c.(28-30)tGc>tTc	p.C10F	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	10	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCCAGAGGGCATGAGGAGGT	0.572																																					p.C10F		Atlas-SNP	.											.	KRT37	61	.	0			c.G29T						PASS	.						66	70	68					17																	39580747		2203	4300	6503	SO:0001583	missense	8688	exon1			AGAGGGCATGAGG	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.29G>T	17.37:g.39580747C>A	ENSP00000225550:p.Cys10Phe	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	71	6	0.084507	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	3.388	-0.124847	0.06795	.	.	ENSG00000108417	ENST00000225550	D	0.81739	-1.53	4.0	-5.2	0.02823	.	1.694370	0.03249	N	0.181556	T	0.50769	0.1635	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54016	-0.8356	10	0.06365	T	0.9	.	3.0653	0.06212	0.1093:0.34:0.3573:0.1934	.	10	O76014	KRT37_HUMAN	F	10	ENSP00000225550:C10F	ENSP00000225550:C10F	C	-	2	0	KRT37	36834273	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.529000	0.02223	-0.991000	0.03476	0.655000	0.94253	TGC	.	.	none		0.572	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		A	39580747	C	A	39580747	3	1	2	1	0	0	0	0	1	0	0	0	8474	710	25	4	1348	4	KRT37	17	39580747	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	3587393	39580747	41614463	106	415										
SFRS1	6426	hgsc.bcm.edu	37	chr17	56083716	56083717	+	Frame_Shift_Del	DEL	CT	CT	-													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	acactcaccagagacaaccaCtctgttttcagaccgcctgg							TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:56083716_56083717delCT	ENST00000258962.4	-	2	574_575	c.366_367delAG	c.(364-369)agagtgfs	p.RV122fs	SRSF1_ENST00000584773.1_Frame_Shift_Del_p.RV122fs|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Frame_Shift_Del_p.RV122fs|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	122	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V123L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGACAACCACTCTGTTTTCAG	0.554																																					p.123_123del		Pindel,Atlas-Indel	.											SRSF1,NS,carcinoma,-1,1	SRSF1	41	1	1	Substitution - Missense(1)	lung(1)	c.367_368del						PASS	.																																			SO:0001589	frameshift_variant	6426	exon2			.		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.366_367delAG	17.37:g.56083718_56083719delCT	ENSP00000258962:p.Arg122fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_001078166	B2R6Z7|D3DTZ3|Q13809	Frame_Shift_Del	DEL	ENST00000258962.4	37	CCDS11600.1																																																																																			.	.	none		0.554	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		-	56083717	CT	-	56083716	7	5	2	1	0	1	0	1	0	0	0	0	14165	565	20	0	445	0	SFRS1	17	56083716	Frame_Shift_Del	DEL	CT	TCGA-FA-A4BB-01A-11D-A31X-10	16502969	56083716	25111494	107	416										
UNK	85451	hgsc.bcm.edu	37	chr17	73780999	73780999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gcccggcggctccgcagcttCctcggcgcccccggccgcta	13	21	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr17:73780999C>T	ENST00000589666.1	+	1	148	c.38C>T	c.(37-39)tCc>tTc	p.S13F	H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Missense_Mutation_p.S89F|MIR4738_ENST00000579134.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	13							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCGCAGCTTCCTCGGCGCCC	0.711																																					p.S13F		Atlas-SNP	.											.	UNK	87	.	0			c.C38T						PASS	.						6	10	9					17																	73780999		1748	3892	5640	SO:0001583	missense	85451	exon1			CAGCTTCCTCGGC	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.38C>T	17.37:g.73780999C>T	ENSP00000464893:p.Ser13Phe	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	51	8	0.156863	NM_001080419		Missense_Mutation	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823706	0.71143	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.88	4.91	0.64330	.	0.228714	0.47093	N	0.000253	T	0.56108	0.1963	L	0.51422	1.61	0.51767	D	0.999932	D	0.55385	0.971	B	0.44278	0.445	T	0.62348	-0.6873	9	0.72032	D	0.01	-19.3886	14.8103	0.69989	0.0:0.855:0.145:0.0	.	13	Q9C0B0	UNK_HUMAN	F	89	.	ENSP00000293218:S89F	S	+	2	0	UNK	71292594	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	3.612000	0.54142	1.473000	0.48159	-0.175000	0.13238	TCC	.	.	none		0.711	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		T	73780999	C	T	73780999	3	4	2	1	0	0	0	0	1	0	0	0	16997	855	30	2	272	2	UNK	17	73780999	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	17697283	73780999	7414211	108	417										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7049165	7049165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gcgttctaatgcgttgcaagCgaaggcgaatatatcgtgca	12	8	1	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr18:7049165C>T	ENST00000389658.3	-	5	773	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	227	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCGTTGCAAGCGAAGGCGAAT	0.468																																					p.R227H		Atlas-SNP	.											.	LAMA1	458	.	0			c.G680A						PASS	.						148	123	131					18																	7049165		2203	4300	6503	SO:0001583	missense	284217	exon5			TGCAAGCGAAGGC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.680G>A	18.37:g.7049165C>T	ENSP00000374309:p.Arg227His	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	113	14	0.123894	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623061	0.87460	.	.	ENSG00000101680	ENST00000389658	T	0.76709	-1.04	5.85	4.95	0.65309	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87334	0.6151	M	0.82517	2.595	0.48395	D	0.999643	D	0.89917	1.0	D	0.75484	0.986	D	0.87835	0.2647	10	0.62326	D	0.03	.	11.2793	0.49184	0.0:0.8035:0.128:0.0684	.	227	P25391	LAMA1_HUMAN	H	227	ENSP00000374309:R227H	ENSP00000374309:R227H	R	-	2	0	LAMA1	7039165	1.000000	0.71417	0.866000	0.34008	0.886000	0.51366	2.476000	0.45171	2.767000	0.95098	0.557000	0.71058	CGC	.	.	none		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7049165	C	T	7049165	3	4	2	1	0	0	0	0	1	0	0	0	8605	768	27	1	8783	1	LAMA1	18	7049165	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10		7049165	71028083	109	418										
ANKRD30B	374860	hgsc.bcm.edu	37	chr18	14848821	14848821	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	acagcaaaaatggaacaaacGaaaaataagttttgtgtact	7	5	0	0	rs28555630	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr18:14848821G>A	ENST00000358984.4	+	34	3111	c.2931G>A	c.(2929-2931)acG>acA	p.T977T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	977				T -> M (in Ref. 3; AAK27326 and 4; BAG57852). {ECO:0000305}.						breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGGAACAAACGAAAAATAAGT	0.348													g|||	2352	0.469649	0.5371	0.4222	5008	,	,		15908	0.4127		0.5109	False		,,,				2504	0.4284				p.T977T		Atlas-SNP	.											ANKRD30B_ENST00000358984,NS,carcinoma,+1,1	ANKRD30B	237	1	0			c.G2931A						scavenged	.						74	56	61					18																	14848821		692	1587	2279	SO:0001819	synonymous_variant	374860	exon34			ACAAACGAAAAAT	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.2931G>A	18.37:g.14848821G>A		Somatic	440	3	0.00681818		WXS	Illumina HiSeq	Phase_I	461	5	0.010846	NM_001145029	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			G|0.500;A|0.500	0.500	weak		0.348	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14848821	G	A	14848821	2	1	2	1	0	0	0	0	0	0	0	1	659	1045	37	1		1	ANKRD30B	18	14848821	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	7799656	14848821	63228427	110	419										
DSEL	92126	hgsc.bcm.edu	37	chr18	65180409	65180409	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gaaacaaatacttgtccattGggggcaaaagtaaatgagtt	10	5	0	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr18:65180409G>T	ENST00000310045.7	-	2	2940	c.1467C>A	c.(1465-1467)ccC>ccA	p.P489P	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	479					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTGTCCATTGGGGGCAAAAG	0.423																																					p.P489P		Atlas-SNP	.											.	DSEL	196	.	0			c.C1467A						PASS	.						103	99	101					18																	65180409		2203	4300	6503	SO:0001819	synonymous_variant	92126	exon2			TCCATTGGGGGCA	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1467C>A	18.37:g.65180409G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	113	11	0.0973451	NM_032160	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																			.	.	none		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		T	65180409	G	T	65180409	2	4	2	1	0	0	0	0	0	0	0	1	4775	1335	47	4		4	DSEL	18	65180409	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	50331588	65180409	12896839	111	420										
MUC16	94025	hgsc.bcm.edu	37	chr19	9006370	9006370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaggtcagtctgcagccagaAtacagagggccaacactggt	12	10	2	2	rs79341062	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:9006370A>G	ENST00000397910.4	-	45	39851	c.39648T>C	c.(39646-39648)taT>taC	p.Y13216Y	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13218	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGCCAGAATACAGAGGGC	0.522																																					p.Y13216Y		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,-2,2	MUC16	4315	2	0			c.T39648C						scavenged	.						104	85	91					19																	9006370		2007	4178	6185	SO:0001819	synonymous_variant	94025	exon45			GCCAGAATACAGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39648T>C	19.37:g.9006370A>G		Somatic	48	2	0.0416667		WXS	Illumina HiSeq	Phase_I	35	3	0.0857143	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.163	-0.391777	0.04932	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.73	-2.09	0.07232	.	.	.	.	.	T	0.36799	0.0980	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44544	-0.9321	3	.	.	.	-18.4462	7.5909	0.28021	0.6138:0.0:0.3862:0.0	.	.	.	.	T	56	.	.	I	-	2	0	MUC16	8867370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.632000	0.00870	-0.715000	0.04968	-2.373000	0.00235	ATT	A|0.500;G|0.500	0.500	strong		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9006370	A	G	9006370	2	3	2	1	0	0	0	0	0	0	0	1	9973	108	4	2		2	MUC16	19	9006370	Silent	SNP	A	TCGA-FA-A4BB-01A-11D-A31X-10		9006370	50122613	112	421										
LPHN1	22859	hgsc.bcm.edu	37	chr19	14266282	14266282	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ttgttgatgaagaggaggccGaaagcccaggtgaggcccag	16	8	0	4			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:14266282G>A	ENST00000340736.6	-	19	3495	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.F1061F	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1066					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGGAGGCCGAAAGCCCAGG	0.622																																					p.F1066F		Atlas-SNP	.											.	LPHN1	107	.	0			c.C3198T						PASS	.						90	86	87					19																	14266282		2203	4300	6503	SO:0001819	synonymous_variant	22859	exon19			GAGGCCGAAAGCC	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3198C>T	19.37:g.14266282G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	88	17	0.193182	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																			.	.	none		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14266282	G	A	14266282	2	1	2	1	0	0	0	0	0	0	0	1	8915	1049	37	1		1	LPHN1	19	14266282	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	5259912	14266282	44862701	113	422										
LPHN1	22859	hgsc.bcm.edu	37	chr19	14288465	14288465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gcattctccaccatgatgacGtcgctgccggggcaccgcag	12	15	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:14288465G>A	ENST00000340736.6	-	3	459	c.162C>T	c.(160-162)gaC>gaT	p.D54D	LPHN1_ENST00000361434.3_Silent_p.D54D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	54	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATGATGACGTCGCTGCCGG	0.652																																					p.D54D		Atlas-SNP	.											LPHN1,NS,carcinoma,-1,1	LPHN1	107	1	0			c.C162T						PASS	.						114	91	99					19																	14288465		2203	4300	6503	SO:0001819	synonymous_variant	22859	exon3			GATGACGTCGCTG	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.162C>T	19.37:g.14288465G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	48	7	0.145833	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																			.	.	none		0.652	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14288465	G	A	14288465	2	1	2	1	0	0	0	0	0	0	0	1	8915	1136	40	1		1	LPHN1	19	14288465	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	22183	14288465	44840518	114	423										
ZNF575	284346	hgsc.bcm.edu	37	chr19	44039461	44039461	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agcggcgcccgcccgcacccGtgcccacactgcccgaagtc	11	21	0	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:44039461G>T	ENST00000314228.5	+	4	872	c.360G>T	c.(358-360)ccG>ccT	p.P120P	ZNF575_ENST00000601282.1_Silent_p.P120P|ZNF575_ENST00000458714.2_Silent_p.P219P	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				GCCCGCACCCGTGCCCACACT	0.731																																					p.P120P		Atlas-SNP	.											ZNF575,NS,carcinoma,+1,1	ZNF575	14	1	0			c.G360T						scavenged	.						23	24	24					19																	44039461		2199	4297	6496	SO:0001819	synonymous_variant	284346	exon4			GCACCCGTGCCCA	BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"Zinc fingers, C2H2-type"	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.360G>T	19.37:g.44039461G>T		Somatic	90	1	0.0111111		WXS	Illumina HiSeq	Phase_I	76	5	0.0657895	NM_174945	B4DX54	Silent	SNP	ENST00000314228.5	37	CCDS12623.1																																																																																			.	.	none		0.731	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945		T	44039461	G	T	44039461	2	4	2	1	0	0	0	0	0	0	0	1	18004	1132	40	4		4	ZNF575	19	44039461	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	29750996	44039461	15089522	115	424										
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305555	48305555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ctgagattgggcctgggatcGggcctgggttcgggcctgag	19	9	0	2	rs147380237		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:48305555G>A	ENST00000322175.3	-	2	868	c.713C>T	c.(712-714)cCg>cTg	p.P238L	TPRX1_ENST00000535759.1_Missense_Mutation_p.P335L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P228L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	238	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.662																																					p.P238L	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-SNP	.											TPRX1,colon,carcinoma,+1,1	TPRX1	46	1	0			c.C713T						scavenged	.						10	8	9					19																	48305555		2095	4129	6224	SO:0001583	missense	284355	exon2			GGGATCGGGCCTG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.713C>T	19.37:g.48305555G>A	ENSP00000323455:p.Pro238Leu	Somatic	32	5	0.15625		WXS	Illumina HiSeq	Phase_I	20	4	0.2	NM_198479	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	g	8.014	0.758252	0.15846	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93659	-2.01;-3.26	0.495	0.495	0.16890	.	.	.	.	.	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.76977	-0.2759	8	0.45353	T	0.12	.	.	.	.	.	238	Q8N7U7	TPRX1_HUMAN	L	238;335;228	ENSP00000323455:P238L;ENSP00000438832:P335L	ENSP00000323455:P238L	P	-	2	0	TPRX1	52997367	0.000000	0.05858	0.020000	0.16555	0.015000	0.08874	-2.180000	0.01258	0.561000	0.29186	0.420000	0.28162	CCG	G|0.989;A|0.011	0.011	strong		0.662	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305555	G	A	48305555	3	1	2	1	0	0	0	0	1	0	0	0	16419	1116	39	1	526	1	TPRX1	19	48305555	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	4266094	48305555	10823428	116	425										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52570006	52570006	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	actaaagcacttcccacatcGattacatttgtaaggtttct	5	10	1	0			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:52570006G>T	ENST00000426391.2	-	5	1332	c.781C>A	c.(781-783)Cga>Aga	p.R261R	ZNF841_ENST00000594295.1_Silent_p.R377R|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Silent_p.R261R|ZNF841_ENST00000389534.4_Silent_p.R377R			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTCCCACATCGATTACATTTG	0.393																																					p.R377R		Atlas-SNP	.											ZNF841_ENST00000389534,NS,carcinoma,+1,3	ZNF841	183	3	0			c.C1129A						scavenged	.						107	95	99					19																	52570006		692	1591	2283	SO:0001819	synonymous_variant	284371	exon7			CACATCGATTACA	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.781C>A	19.37:g.52570006G>T		Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	58	2	0.0344828	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																				.	.	none		0.393	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52570006	G	T	52570006	2	4	2	1	0	0	0	0	0	0	0	1	18186	1066	37	4		4	ZNF841	19	52570006	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	4264451	52570006	6558977	117	426										
LILRA2	11027	hgsc.bcm.edu	37	chr19	55086872	55086872	+	Missense_Mutation	SNP	T	T	C													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	acttcctccagcgccctggtTggcagccccaggctgggctc					rs558649481	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:55086872T>C	ENST00000251377.3	+	6	938	c.805T>C	c.(805-807)Tgg>Cgg	p.W269R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.W269R|LILRA2_ENST00000391737.1_Missense_Mutation_p.W257R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.W269R|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	269	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCGCCCTGGTTGGCAGCCCCA	0.622													t|||	24	0.00479233	0.0	0.0	5008	,	,		15887	0.0		0.001	False		,,,				2504	0.0235				p.W269R		Atlas-SNP	.											LILRA2,NS,carcinoma,-1,1	LILRA2	99	1	0			c.T805C						scavenged	.						78	76	76					19																	55086872		2203	4300	6503	SO:0001583	missense	11027	exon5			CCTGGTTGGCAGC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.805T>C	19.37:g.55086872T>C	ENSP00000251377:p.Trp269Arg	Somatic	215	4	0.0186047		WXS	Illumina HiSeq	Phase_I	169	4	0.0236686	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.976686	0.00452	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	2.26	-1.89	0.07689	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.839380	0.00628	N	0.000462	T	0.00384	0.0012	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.001;0.001;0.001	T	0.45556	-0.9253	10	0.12103	T	0.63	.	5.5546	0.17109	0.0:0.4435:0.0:0.5565	.	269;257;269;269	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	269;269;269;269;257	ENSP00000388131:W269R;ENSP00000251377:W269R;ENSP00000375618:W269R;ENSP00000251376:W269R;ENSP00000375617:W257R	ENSP00000251376:W269R	W	+	1	0	LILRA2	59778684	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.571000	0.02138	-0.336000	0.08438	-1.727000	0.00703	TGG	.	.	none		0.622	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			C	55086872	T	C	55086872	3	2	2	1	0	0	0	0	1	0	0	0	8785	1812	63	2	823	2	LILRA2	19	55086872	Missense_Mutation	SNP	T	TCGA-FA-A4BB-01A-11D-A31X-10	2516866	55086872	4042111	118	427	11	2								
LILRA2	11027	hgsc.bcm.edu	37	chr19	55086873	55086873	+	Nonsense_Mutation	SNP	G	G	A													0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cttcctccagcgccctggttGgcagccccaggctgggctct					rs575246367	byFrequency	TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:55086873G>A	ENST00000251377.3	+	6	939	c.806G>A	c.(805-807)tGg>tAg	p.W269*	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.W269*|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.W257*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.W269*|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	269	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.W269L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGCCCTGGTTGGCAGCCCCAG	0.622													g|||	24	0.00479233	0.0	0.0	5008	,	,		15852	0.0		0.001	False		,,,				2504	0.0235				p.W269X		Atlas-SNP	.											LILRA2,NS,carcinoma,0,1	LILRA2	99	1	1	Substitution - Missense(1)	lung(1)	c.G806A						scavenged	.						75	74	74					19																	55086873		2203	4300	6503	SO:0001587	stop_gained	11027	exon5			CTGGTTGGCAGCC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.806G>A	19.37:g.55086873G>A	ENSP00000251377:p.Trp269*	Somatic	217	4	0.0184332		WXS	Illumina HiSeq	Phase_I	166	5	0.0301205	NM_001130917	O75020	Nonsense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154944	0.38021	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.26	-4.53	0.03462	.	3.839380	0.00628	N	0.000462	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	0.3518	0.00350	0.3906:0.152:0.2111:0.2464	.	.	.	.	X	269;269;269;269;257	.	ENSP00000251376:W269X	W	+	2	0	LILRA2	59778685	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.564000	0.00918	-1.647000	0.01511	-0.527000	0.04329	TGG	.	.	none		0.622	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			A	55086873	G	A	55086873	4	1	2	1	0	0	0	0	0	1	0	0	8785	1357	47	2	824	2	LILRA2	19	55086873	Nonsense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1	55086873	4042110	119	428	11	2								
NLRP9	338321	hgsc.bcm.edu	37	chr19	56244558	56244558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggctgggaaaaaatgtcttcGatcttctctgaagactccgg	11	9	3	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:56244558G>A	ENST00000332836.2	-	2	666	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	213	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAATGTCTTCGATCTTCTCTG	0.443																																					p.I213I		Atlas-SNP	.											NLRP9,NS,carcinoma,0,1	NLRP9	163	1	0			c.C639T						PASS	.						33	32	32					19																	56244558		2203	4300	6503	SO:0001819	synonymous_variant	338321	exon2			GTCTTCGATCTTC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.639C>T	19.37:g.56244558G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	84	11	0.130952	NM_176820	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																			.	.	none		0.443	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56244558	G	A	56244558	2	1	2	1	0	0	0	0	0	0	0	1	10484	1048	37	1		1	NLRP9	19	56244558	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1157685	56244558	2884425	120	429										
ZNF749	388567	hgsc.bcm.edu	37	chr19	57956104	57956104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agtcccacctagttcagcatGagaaaatccacactgatgca	7	12	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:57956104G>C	ENST00000334181.4	+	3	1838	c.1588G>C	c.(1588-1590)Gag>Cag	p.E530Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCATGAGAAAATCCA	0.448																																					p.E530Q		Atlas-SNP	.											ZNF749,NS,malignant_melanoma,0,2	ZNF749	75	2	0			c.G1588C						scavenged	.						96	93	94					19																	57956104		2203	4300	6503	SO:0001583	missense	388567	exon3			CAGCATGAGAAAA	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1588G>C	19.37:g.57956104G>C	ENSP00000333980:p.Glu530Gln	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	102	3	0.0294118	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	0	-2.620200	0.00118	.	.	ENSG00000186230	ENST00000334181	T	0.07567	3.18	0.858	-0.38	0.12490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.01235	-0.94	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.45308	-0.9270	9	0.02654	T	1	.	5.0363	0.14436	0.0:0.6227:0.3773:0.0	.	530	O43361	ZN749_HUMAN	Q	530	ENSP00000333980:E530Q	ENSP00000333980:E530Q	E	+	1	0	ZNF749	62647916	.	.	0.006000	0.13384	0.045000	0.14185	.	.	-0.053000	0.13289	-1.525000	0.00928	GAG	.	.	none		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		C	57956104	G	C	57956104	3	2	2	1	0	0	0	0	1	0	0	0	18128	1291	45	4	1598	4	ZNF749	19	57956104	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1711546	57956104	1172879	121	430										
ZNF324	25799	hgsc.bcm.edu	37	chr19	58983107	58983107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcctcgctctttaagcaccaGcgcgtgcacacaggcgagaa	10	14	1	1			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr19:58983107G>A	ENST00000536459.2	+	4	1957	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	ZNF324_ENST00000535298.1_Silent_p.Q193Q|ZNF324_ENST00000196482.3_Silent_p.Q416Q|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	416					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTAAGCACCAGCGCGTGCACA	0.662																																					p.Q416Q		Atlas-SNP	.											.	ZNF324	46	.	0			c.G1248A						PASS	.						41	41	41					19																	58983107		2203	4299	6502	SO:0001819	synonymous_variant	25799	exon4			GCACCAGCGCGTG	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1248G>A	19.37:g.58983107G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	77	9	0.116883	NM_014347	B3KRX1	Silent	SNP	ENST00000536459.2	37	CCDS12981.1																																																																																			.	.	none		0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		A	58983107	G	A	58983107	2	1	2	1	0	0	0	0	0	0	0	1	17841	962	34	2		2	ZNF324	19	58983107	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	1027003	58983107	145876	122	431										
ANGPT4	51378	hgsc.bcm.edu	37	chr20	865839	865839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tgcctgacaccgcgcaggccGcgctcgatgttggtgagggc	16	13	0	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr20:865839G>A	ENST00000381922.3	-	4	819	c.717C>T	c.(715-717)cgC>cgT	p.R239R	ANGPT4_ENST00000546022.1_Silent_p.R239R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	239					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGCGCAGGCCGCGCTCGATGT	0.652																																					p.R239R	Pancreas(181;481 2077 3259 31286 49856)	Atlas-SNP	.											.	ANGPT4	77	.	0			c.C717T						PASS	.						22	20	21					20																	865839		2197	4295	6492	SO:0001819	synonymous_variant	51378	exon4			CAGGCCGCGCTCG	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.717C>T	20.37:g.865839G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	65	9	0.138462	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			.	.	none		0.652	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	865839	G	A	865839	2	1	2	1	0	0	0	0	0	0	0	1	612	1074	38	1		1	ANGPT4	20	865839	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		865839	62159681	123	432										
KCNJ6	3763	hgsc.bcm.edu	37	chr21	39087049	39087049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	aaaaaagcagagacgaacccGttgaggttggtaacacaagg	12	7	0	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr21:39087049G>A	ENST00000609713.1	-	3	1000	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.N137N	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	137					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468																																					p.N137N	Pancreas(48;379 1118 2936 19024 28214)	Atlas-SNP	.											.	KCNJ6	58	.	0			c.C411T						PASS	.						109	112	111					21																	39087049		1857	4106	5963	SO:0001819	synonymous_variant	3763	exon3			GAACCCGTTGAGG	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.411C>T	21.37:g.39087049G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	79	9	0.113924	NM_002240	Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	CCDS42927.1																																																																																			.	.	none		0.468	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		A	39087049	G	A	39087049	2	1	2	1	0	0	0	0	0	0	0	1	8055	1136	40	1		1	KCNJ6	21	39087049	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		39087049	9042846	124	433										
ADARB1	104	hgsc.bcm.edu	37	chr21	46595934	46595934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	cagactgggcccgtgcacgcGcctttgtttgtcatgtctgt	12	12	2	1	rs201356458		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr21:46595934G>A	ENST00000360697.3	+	2	333	c.318G>A	c.(316-318)gcG>gcA	p.A106A	ADARB1_ENST00000539173.1_Silent_p.A106A|ADARB1_ENST00000389863.4_Silent_p.A106A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Silent_p.A106A			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	106	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A106A(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCGTGCACGCGCCTTTGTTTG	0.557																																					p.A106A		Atlas-SNP	.											ADARB1_ENST00000389863,NS,carcinoma,0,4	ADARB1	81	4	2	Substitution - coding silent(2)	large_intestine(2)	c.G318A						PASS	.						113	118	116					21																	46595934		2203	4300	6503	SO:0001819	synonymous_variant	104	exon4			GCACGCGCCTTTG	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.318G>A	21.37:g.46595934G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	124	16	0.129032	NM_001160230	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	CCDS33589.1																																																																																			G|0.999;A|0.001	0.001	weak		0.557	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		A	46595934	G	A	46595934	2	1	2	1	0	0	0	0	0	0	0	1	282	1074	38	1		1	ADARB1	21	46595934	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10	7508885	46595934	1533961	125	434										
PRMT2	3275	hgsc.bcm.edu	37	chr21	48069615	48069615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	gtgctgcccgagaaggtggaCgtgctggtgtctgagtggat	18	7	1	2	rs111614078		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr21:48069615C>T	ENST00000397637.1	+	6	1572	c.618C>T	c.(616-618)gaC>gaT	p.D206D	PRMT2_ENST00000334494.4_Silent_p.D206D|PRMT2_ENST00000355680.3_Silent_p.D206D|PRMT2_ENST00000397638.2_Silent_p.D206D|PRMT2_ENST00000458387.2_Silent_p.D206D|PRMT2_ENST00000397628.1_Silent_p.D206D|PRMT2_ENST00000451211.2_Silent_p.D206D|PRMT2_ENST00000440086.1_Silent_p.D206D|PRMT2_ENST00000291705.6_Silent_p.D206D|PRMT2_ENST00000491389.1_3'UTR			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	206	Interaction with ESR1.|Interaction with RB1. {ECO:0000250}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGAAGGTGGACGTGCTGGTGT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		14573	0.0		0.001	False		,,,				2504	0.0				p.D206D		Atlas-SNP	.											.	PRMT2	48	.	0			c.C618T						PASS	.	C	,,,,	2,4404		0,2,2201	115	76	89		618,618,618,618,618	-5.5	1	21	dbSNP_132	89	6,8594		0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRMT2	NM_001242864.1,NM_001242865.1,NM_001242866.1,NM_001535.3,NM_206962.2	,,,,	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	,,,,	206/332,206/285,206/278,206/434,206/434	48069615	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	3275	exon6			GGTGGACGTGCTG	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.618C>T	21.37:g.48069615C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	164	22	0.134146	NM_001242864	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307050	0.23821	4.54E-4	6.98E-4	ENSG00000160310	ENST00000455177	.	.	.	4.97	-5.54	0.02544	.	.	.	.	.	T	0.60130	0.2245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61884	-0.6971	4	.	.	.	-7.4869	12.8764	0.57991	0.0:0.4715:0.0:0.5285	.	.	.	.	M	146	.	.	T	+	2	0	PRMT2	46894043	0.012000	0.17670	0.962000	0.40283	0.964000	0.63967	-2.105000	0.01339	-0.813000	0.04357	-1.021000	0.02439	ACG	C|1.000;T|0.000	0.000	strong		0.667	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		T	48069615	C	T	48069615	2	4	2	1	0	0	0	0	0	0	0	1	12537	535	19	1		1	PRMT2	21	48069615	Silent	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	1473681	48069615	60280	126	435										
PISD	23761	hgsc.bcm.edu	37	chr22	32015667	32015667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	agctggaaattgaagtccttGggggcctcgaagatgagcac	14	8	0	3			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr22:32015667G>A	ENST00000439502.2	-	8	1384	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	PISD_ENST00000478893.1_5'Flank|PISD_ENST00000397500.1_3'UTR|PISD_ENST00000336566.4_Silent_p.P386P|PISD_ENST00000266095.5_Silent_p.P353P|PISD_ENST00000382151.2_Silent_p.P353P			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	387					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGAAGTCCTTGGGGGCCTCGA	0.562																																					p.P353P		Atlas-SNP	.											.	PISD	53	.	0			c.C1059T						PASS	.						89	84	86					22																	32015667		2203	4300	6503	SO:0001819	synonymous_variant	23761	exon9			GTCCTTGGGGGCC		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1161C>T	22.37:g.32015667G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	90	13	0.144444	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	7.019	0.558312	0.13436	.	.	ENSG00000241878	ENST00000435900	.	.	.	5.29	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62039	-0.6938	6	0.87932	D	0	-35.6684	6.5047	0.22188	0.1533:0.0:0.7027:0.144	.	.	.	.	L	340	.	ENSP00000414395:P340L	P	-	2	0	PISD	30345667	0.985000	0.35326	1.000000	0.80357	0.659000	0.38960	0.069000	0.14552	0.593000	0.29745	-0.216000	0.12614	CCA	.	.	none		0.562	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			A	32015667	G	A	32015667	2	1	2	1	0	0	0	0	0	0	0	1	11946	1335	47	2		2	PISD	22	32015667	Silent	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		32015667	19288899	127	436										
SBF1	6305	hgsc.bcm.edu	37	chr22	50887015	50887015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ggcgctgtgcagccttcaccCggtcccaggtgtccttccag	12	16	1	0	rs367954544		TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chr22:50887015C>T	ENST00000390679.3	-	36	5214	c.5030G>A	c.(5029-5031)cGg>cAg	p.R1677Q	SBF1_ENST00000380817.3_Missense_Mutation_p.R1703Q|SBF1_ENST00000348911.6_Missense_Mutation_p.R1678Q			O95248	MTMR5_HUMAN	SET binding factor 1	1677					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCTTCACCCGGTCCCAGGT	0.622																																					p.R1703Q		Atlas-SNP	.											.	SBF1	211	.	0			c.G5108A						PASS	.						37	45	42					22																	50887015		2039	4208	6247	SO:0001583	missense	6305	exon37			TTCACCCGGTCCC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5030G>A	22.37:g.50887015C>T	ENSP00000375097:p.Arg1677Gln	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	33	4	0.121212	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	C	19.07	3.755100	0.69648	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.11604	2.76;2.76;2.76	4.57	4.57	0.56435	.	0.367621	0.27406	N	0.019512	T	0.07188	0.0182	N	0.14661	0.345	0.35309	D	0.783682	P;P;P	0.52061	0.95;0.948;0.95	P;B;B	0.44422	0.449;0.182;0.382	T	0.21484	-1.0244	10	0.45353	T	0.12	.	7.4391	0.27172	0.0:0.8096:0.0:0.1904	.	1677;1703;224	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	Q	1703;1678;1713;1677	ENSP00000370196:R1703Q;ENSP00000252027:R1678Q;ENSP00000375097:R1677Q	ENSP00000336522:R1713Q	R	-	2	0	SBF1	49233881	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.230000	0.58632	2.285000	0.76669	0.491000	0.48974	CGG	.	.	weak		0.622	SBF1-201	KNOWN	basic	protein_coding	protein_coding				T	50887015	C	T	50887015	3	4	2	1	0	0	0	0	1	0	0	0	13858	652	23	1	593	1	SBF1	22	50887015	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	18871348	50887015	417551	128	437										
PHKA1	5255	hgsc.bcm.edu	37	chrX	71855062	71855062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	ctggcctgtcatccgccagcGgctacagaggtaggagaggt	15	11	1	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chrX:71855062G>A	ENST00000373542.4	-	16	1816	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	PHKA1_ENST00000541944.1_Missense_Mutation_p.R553C|PHKA1_ENST00000373539.3_Missense_Mutation_p.R553C|PHKA1_ENST00000373545.3_Missense_Mutation_p.R553C|PHKA1_ENST00000339490.3_Missense_Mutation_p.R553C	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	553					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCCGCCAGCGGCTACAGAGG	0.483																																					p.R553C		Atlas-SNP	.											.	PHKA1	129	.	0			c.C1657T						PASS	.						106	84	92					X																	71855062		2203	4300	6503	SO:0001583	missense	5255	exon16			GCCAGCGGCTACA		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1657C>T	X.37:g.71855062G>A	ENSP00000362643:p.Arg553Cys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	55	17	0.309091	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507139	0.12883	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.33	4.33	0.51752	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	N	0.05351	-0.065	0.80722	D	1	D;B;B	0.89917	1.0;0.005;0.021	D;B;B	0.66351	0.943;0.008;0.021	T	0.82908	-0.0224	10	0.23891	T	0.37	-5.103	13.7081	0.62653	0.0:0.0:1.0:0.0	.	553;553;553	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	C	553	ENSP00000362646:R553C;ENSP00000362643:R553C;ENSP00000441251:R553C;ENSP00000342469:R553C;ENSP00000362640:R553C	ENSP00000342469:R553C	R	-	1	0	PHKA1	71771787	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	2.565000	0.45939	1.890000	0.54733	0.415000	0.27848	CGC	.	.	none		0.483	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71855062	G	A	71855062	3	1	2	1	0	0	0	0	1	0	0	0	11843	1116	39	1	2082	1	PHKA1	23	71855062	Missense_Mutation	SNP	G	TCGA-FA-A4BB-01A-11D-A31X-10		71855062	83415498	129	438										
COL4A5	1287	hgsc.bcm.edu	37	chrX	107923951	107923951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.03125	4	1	0.503684111090119	2.81223628691983	0.276613405270803	1	1	0	tcaatggaatgaaaggagatCctggtctccctggtgttcca	11	9	2	2			TCGA-FA-A4BB-01A-11D-A31X-10	TCGA-FA-A4BB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	698b2e1b-0389-4dd2-a8bd-1499e0912f11	c1a1aa05-7d9f-41a8-b682-776d11b54183	g.chrX:107923951C>A	ENST00000361603.2	+	43	4211	c.3967C>A	c.(3967-3969)Cct>Act	p.P1323T	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1329T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1323	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGAGATCCTGGTCTCCC	0.428									Alport syndrome with Diffuse Leiomyomatosis																												p.P1323T		Atlas-SNP	.											.	COL4A5	262	.	0			c.C3967A						PASS	.						89	84	86					X																	107923951		2203	4300	6503	SO:0001583	missense	1287	exon43	Familial Cancer Database		GGAGATCCTGGTC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3967C>A	X.37:g.107923951C>A	ENSP00000354505:p.Pro1323Thr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	22	0.215686	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142734	0.37825	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96651	-4.08;-4.08	5.32	4.43	0.53597	.	0.407150	0.28047	N	0.016807	D	0.94023	0.8085	M	0.63428	1.95	0.41880	D	0.990319	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.001	D	0.91307	0.5071	10	0.11794	T	0.64	.	14.5286	0.67909	0.1468:0.8532:0.0:0.0	.	1326;1323	E7EVY4;P29400	.;CO4A5_HUMAN	T	1329;1323;1329	ENSP00000331902:P1329T;ENSP00000354505:P1323T	ENSP00000331902:P1329T	P	+	1	0	COL4A5	107810607	0.883000	0.30277	1.000000	0.80357	0.993000	0.82548	1.094000	0.30951	2.212000	0.71576	0.523000	0.50628	CCT	.	.	none		0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107923951	C	A	107923951	3	1	2	1	0	0	0	0	1	0	0	0	3694	855	30	4	4148	4	COL4A5	23	107923951	Missense_Mutation	SNP	C	TCGA-FA-A4BB-01A-11D-A31X-10	36068889	107923951	47346609	130	439										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1417994	1417994	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgggacaaagtgacagccacGgtaaacatattcataaaaca	8	9	1	1	rs142344235	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:1417994G>A	ENST00000308647.7	+	7	866	c.750G>A	c.(748-750)acG>acA	p.T250T	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.T82T	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	250						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACAGCCACGGTAAACATAT	0.607													N|||	3	0.000599042	0.0	0.0	5008	,	,		17044	0.0		0.001	False		,,,				2504	0.002				p.T250T		Atlas-SNP	.											ATAD3B_ENST00000378741,NS,carcinoma,+1,2	ATAD3B	68	2	0			c.G750A						scavenged	.	G		1,4405		0,1,2202	60	100	87		750	2.7	1	1	dbSNP_134	87	8,8590		0,8,4291	no	coding-synonymous-near-splice	ATAD3B	NM_031921.4		0,9,6493	AA,AG,GG		0.093,0.0227,0.0692		250/649	1417994	9,12995	2203	4299	6502	SO:0001630	splice_region_variant	83858	exon7			AGCCACGGTAAAC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.750+1G>A	1.37:g.1417994G>A		Somatic	363	1	0.00275482		WXS	Illumina HiSeq	Phase_I	308	6	0.0194805	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	CCDS30.1																																																																																			G|0.999;A|0.001	0.001	strong		0.607	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	Silent	A	1417994	G	A	1417994	5	1	3	1	0	0	0	0	0	0	1	0	1074	1130	39	1	776	1	ATAD3B	1	1417994	Splice_Site	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		1417994	247832627	1	440										
GABRD	2563	hgsc.bcm.edu	37	chr1	1957037	1957037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacaccaacgagaccctgggTctggacagccgcttcgtgga	12	14	1	1	rs2229110	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:1957037T>C	ENST00000378585.4	+	4	413	c.330T>C	c.(328-330)ggT>ggC	p.G110G		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	110					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACCCTGGGTCTGGACAGCC	0.617													C|||	2811	0.561302	0.7474	0.5101	5008	,	,		16340	0.3462		0.6809	False		,,,				2504	0.4448				p.G110G		Atlas-SNP	.											GABRD,colon,carcinoma,0,2	GABRD	49	2	0			c.T330C						scavenged	.	C		3220,1186	414.4+/-336.8	1183,854,166	98	97	97		330	2.5	1	1	dbSNP_98	97	5680,2920	455.2+/-363.7	1889,1902,509	no	coding-synonymous	GABRD	NM_000815.4		3072,2756,675	CC,CT,TT		33.9535,26.9178,31.57		110/453	1957037	8900,4106	2203	4300	6503	SO:0001819	synonymous_variant	2563	exon4			CCTGGGTCTGGAC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.330T>C	1.37:g.1957037T>C		Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	179	9	0.0502793	NM_000815	Q8N4N9	Silent	SNP	ENST00000378585.4	37	CCDS36.1																																																																																			T|0.334;C|0.666	0.666	strong		0.617	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		C	1957037	T	C	1957037	2	2	3	1	0	0	0	0	0	0	0	1	6169	1654	58	2		2	GABRD	1	1957037	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	539043	1957037	247293584	2	441										
RNF207	388591	hgsc.bcm.edu	37	chr1	6279370	6279370	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaacagctgggctccgaacgGcctctcagaagagcctctac	10	14	2	2	rs846111	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:6279370G>C	ENST00000377939.4	+	18	1935	c.1808G>C	c.(1807-1809)gGc>gCc	p.G603A	ICMT_ENST00000495791.1_5'Flank|RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	603			G -> A (in dbSNP:rs846111). {ECO:0000269|PubMed:19305409}.			intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTCCGAACGGCCTCTCAGAA	0.498													G|||	864	0.172524	0.0227	0.1758	5008	,	,		16230	0.1756		0.2604	False		,,,				2504	0.2791				p.G603A		Atlas-SNP	.											RNF207,caecum,carcinoma,0,2	RNF207	45	2	0			c.G1808C						scavenged	.	G	ALA/GLY	219,3517		9,201,1658	54	56	55	http://www.ncbi.nlm.nih.gov/pubmed?term	1808	1	0	1	dbSNP_86	55	2163,6045		285,1593,2226	yes	missense	RNF207	NM_207396.2	60	294,1794,3884	CC,CG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	26.3523,5.8619,19.9431	benign	603/635	6279370	2382,9562	1868	4104	5972	SO:0001583	missense	388591	exon18			CGAACGGCCTCTC	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1808G>C	1.37:g.6279370G>C	ENSP00000367173:p.Gly603Ala	Somatic	445	0	0		WXS	Illumina HiSeq	Phase_I	337	6	0.0178042	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	CCDS59.2	380	0.17399267399267399	13	0.026422764227642278	70	0.19337016574585636	101	0.17657342657342656	196	0.25857519788918204	G	7.864	0.726640	0.15439	0.058619	0.263523	ENSG00000158286	ENST00000377939	T	0.15952	2.38	5.33	1.01	0.19927	.	0.326684	0.20268	U	0.095722	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.45264	-0.9273	9	0.13470	T	0.59	-0.5354	1.7254	0.02921	0.1818:0.1635:0.4863:0.1684	rs846111;rs3765570;rs17437807;rs846111	603	Q6ZRF8	RN207_HUMAN	A	603	ENSP00000367173:G603A	ENSP00000367173:G603A	G	+	2	0	RNF207	6201957	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.127000	0.10547	0.314000	0.23086	-0.140000	0.14226	GGC	G|0.803;C|0.197	0.197	strong		0.498	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		C	6279370	G	C	6279370	3	2	3	1	0	0	0	0	1	0	0	0	13474	1203	42	4	1874	4	RNF207	1	6279370	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	4322333	6279370	242971251	3	442										
APITD1	1325	hgsc.bcm.edu	37	chr1	10511544	10511544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccctcataggagaggaagcCcgggaggtggccaggcggca	17	12	1	1	rs628462	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:10511544C>T	ENST00000377049.3	+	2	715	c.210C>T	c.(208-210)gcC>gcT	p.A70A	APITD1-CORT_ENST00000400900.2_Silent_p.A129A|APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000470413.2_3'UTR|CORT_ENST00000320498.4_Silent_p.A120A|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602787.1_Silent_p.A129A	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	70					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GAGAGGAAGCCCGGGAGGTGG	0.627													C|||	1440	0.28754	0.0212	0.3112	5008	,	,		14123	0.4871		0.3907	False		,,,				2504	0.319				p.A129A		Atlas-SNP	.											CORT,colon,carcinoma,0,2	.	.	2	0			c.C387T						scavenged	.	C	,,	351,4051		21,309,1871	24	30	28		210,387,	-2.3	0	1	dbSNP_83	28	3414,5182		682,2050,1566	no	coding-synonymous,coding-synonymous,utr-3	CORT,APITD1-CORT	NM_001302.4,NM_198544.3,NM_199006.2	,,	703,2359,3437	TT,TC,CC		39.7161,7.9736,28.966	,,	70/106,129/165,	10511544	3765,9233	2201	4298	6499	SO:0001819	synonymous_variant	100526739	exon5			GGAAGCCCGGGAG	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.210C>T	1.37:g.10511544C>T		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	189	7	0.037037	NM_198544	Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	CCDS117.2																																																																																			C|0.685;T|0.315	0.315	strong		0.627	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		T	10511544	C	T	10511544	2	4	3	1	0	0	0	0	0	0	0	1	775	610	22	2		2	APITD1	1	10511544	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	4232174	10511544	238739077	4	443										
VPS13D	55187	hgsc.bcm.edu	37	chr1	12387807	12387807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tagcccaggggctgtggcagCgccattgatctctggcgtgg	16	11	1	1	rs143572864		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:12387807C>T	ENST00000358136.3	+	36	8223	c.8093C>T	c.(8092-8094)gCg>gTg	p.A2698V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2698V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGTGGCAGCGCCATTGATC	0.502																																					p.A2698V		Atlas-SNP	.											VPS13D,NS,carcinoma,+1,1	VPS13D	316	1	0			c.C8093T						PASS	.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	155	149	151		8093,8093	5.5	0.1	1	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	VPS13D	NM_015378.2,NM_018156.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	2698/4389,2698/4364	12387807	1,13005	2203	4300	6503	SO:0001583	missense	55187	exon36			TGGCAGCGCCATT	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8093C>T	1.37:g.12387807C>T	ENSP00000350854:p.Ala2698Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	120	51	0.425	NM_015378		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119674|2.119674	0.37436|0.37436	0.0|0.0	1.16E-4|1.16E-4	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.46451|.	0.87;0.87|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.368669|.	0.31290|.	N|.	0.007902|.	T|T	0.40423|0.40423	0.1116|0.1116	L|L	0.44542|0.44542	1.39|1.39	0.29599|0.29599	N|N	0.847863|0.847863	B;B;B|.	0.33857|.	0.041;0.429;0.303|.	B;B;B|.	0.27380|.	0.003;0.079;0.054|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|5	0.24483|.	T|.	0.36|.	.|.	7.5184|7.5184	0.27614|0.27614	0.0:0.8005:0.0:0.1995|0.0:0.8005:0.0:0.1995	.|.	605;2698;2698|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|C	2698|1521	ENSP00000348666:A2698V;ENSP00000350854:A2698V|.	ENSP00000348666:A2698V|.	A|R	+|+	2|1	0|0	VPS13D|VPS13D	12310394|12310394	0.143000|0.143000	0.22626|0.22626	0.058000|0.058000	0.19502|0.19502	0.510000|0.510000	0.34073|0.34073	3.538000|3.538000	0.53597|0.53597	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCG|CGC	C|1.000;T|0.000	0.000	weak		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12387807	C	T	12387807	3	4	3	1	0	0	0	0	1	0	0	0	17189	768	27	1	8231	1	VPS13D	1	12387807	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1876263	12387807	236862814	5	444										
DHRS3	9249	hgsc.bcm.edu	37	chr1	12640650	12640650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccatctgccggatctcctcCgtcgtctccttcaggcattt	7	17	4	0	rs11540058	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:12640650C>T	ENST00000376223.2	-	2	623	c.240G>A	c.(238-240)acG>acA	p.T80T	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	80					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGATCTCCTCCGTCGTCTCCT	0.537													C|||	399	0.0796725	0.0446	0.0764	5008	,	,		17584	0.002		0.1918	False		,,,				2504	0.0941				p.T80T		Atlas-SNP	.											.	DHRS3	18	.	0			c.G240A						PASS	.	C		294,4112	161.1+/-193.3	10,274,1919	74	71	72		240	-4.2	0.4	1	dbSNP_120	72	1781,6819	321.8+/-315.3	194,1393,2713	no	coding-synonymous	DHRS3	NM_004753.4		204,1667,4632	TT,TC,CC		20.7093,6.6727,15.9542		80/303	12640650	2075,10931	2203	4300	6503	SO:0001819	synonymous_variant	9249	exon2			CTCCTCCGTCGTC	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.240G>A	1.37:g.12640650C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	133	9	0.0676692	NM_004753	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Silent	SNP	ENST00000376223.2	37	CCDS146.1																																																																																			C|0.868;T|0.132	0.132	strong		0.537	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		T	12640650	C	T	12640650	2	4	3	1	0	0	0	0	0	0	0	1	4491	639	23	1		1	DHRS3	1	12640650	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	252843	12640650	236609971	6	445										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	actccagctggtcatcccccTgatcttcattaacatcatca	4	15	5	1	rs74587302|rs559905244	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																					p.Q262R		Atlas-SNP	.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	1	0			c.A785G						scavenged	.						143	157	152					1																	12907358		2203	4300	6503	SO:0001583	missense	343069	exon2			TCCCCCTGATCTT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg	Somatic	56	1	0.0178571		WXS	Illumina HiSeq	Phase_I	55	4	0.0727273	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG	.	.	weak		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907358	T	C	12907358	3	2	3	1	0	0	0	0	1	0	0	0	7263	1580	55	3	98	3	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	266708	12907358	236343263	7	446										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907513	12907513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tttttcacctctacctcttgTttgctctgttccttttcaat	3	12	5	0	rs201121299		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:12907513T>C	ENST00000317869.6	-	2	855	c.630A>G	c.(628-630)aaA>aaG	p.K210K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	210						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K210N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTACCTCTTGTTTGCTCTGTT	0.448																																					p.K210K		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,0,1	HNRNPCL1	68	1	1	Substitution - Missense(1)	lung(1)	c.A630G						scavenged	.						91	98	96					1																	12907513		2197	4264	6461	SO:0001819	synonymous_variant	343069	exon2			CTCTTGTTTGCTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.630A>G	1.37:g.12907513T>C		Somatic	108	6	0.0555556		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			C|1.000;|0.000	1.000	weak		0.448	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907513	T	C	12907513	2	2	3	1	0	0	0	0	0	0	0	1	7263	1722	60	2		2	HNRNPCL1	1	12907513	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	155	12907513	236343108	8	447										
EPHA2	1969	hgsc.bcm.edu	37	chr1	16451767	16451767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agtcccagcaggctgtaggcGatgcgcttctggtggccggg	17	11	1	0	rs3754334	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:16451767G>A	ENST00000358432.5	-	17	3028	c.2874C>T	c.(2872-2874)atC>atT	p.I958I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	958	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGCTGTAGGCGATGCGCTTCT	0.642													G|||	1185	0.236621	0.1135	0.3141	5008	,	,		12121	0.1548		0.3161	False		,,,				2504	0.3507				p.I958I		Atlas-SNP	.											.	EPHA2	102	.	0			c.C2874T						PASS	.	G		545,3861	244.3+/-253.7	32,481,1690	61	47	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2874	-6.9	0.8	1	dbSNP_107	52	2419,6181	396.7+/-345.5	344,1731,2225	yes	coding-synonymous	EPHA2	NM_004431.3		376,2212,3915	AA,AG,GG		28.1279,12.3695,22.7895		958/977	16451767	2964,10042	2203	4300	6503	SO:0001819	synonymous_variant	1969	exon17			GTAGGCGATGCGC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2874C>T	1.37:g.16451767G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	122	10	0.0819672	NM_004431	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																			G|0.777;A|0.223	0.223	strong		0.642	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16451767	G	A	16451767	2	1	3	1	0	0	0	0	0	0	0	1	5167	1048	37	1		1	EPHA2	1	16451767	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3544254	16451767	232798854	9	448										
CELA3A	10136	hgsc.bcm.edu	37	chr1	22336308	22336308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aacttcatctggaagcccacGgtgttcactcgagtctccgc	9	14	4	0	rs12908	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:22336308G>A	ENST00000290122.3	+	7	772	c.753G>A	c.(751-753)acG>acA	p.T251T	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAAGCCCACGGTGTTCACTC	0.607													G|||	1430	0.285543	0.2307	0.4078	5008	,	,		16710	0.3998		0.2207	False		,,,				2504	0.2219				p.T251T		Atlas-SNP	.											CELA3A,NS,carcinoma,+2,1	CELA3A	35	1	0			c.G753A						scavenged	.	G		1140,3266	383.0+/-324.7	180,780,1243	74	68	70		753	-7.3	0.5	1	dbSNP_52	70	1939,6661	311.3+/-310.3	232,1475,2593	no	coding-synonymous	CELA3A	NM_005747.4		412,2255,3836	AA,AG,GG		22.5465,25.8738,23.6737		251/271	22336308	3079,9927	2203	4300	6503	SO:0001819	synonymous_variant	10136	exon7			GCCCACGGTGTTC	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.753G>A	1.37:g.22336308G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	184	4	0.0217391	NM_005747	B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	CCDS220.1																																																																																			G|0.745;A|0.255	0.255	strong		0.607	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		A	22336308	G	A	22336308	2	1	3	1	0	0	0	0	0	0	0	1	3213	1103	39	1		1	CELA3A	1	22336308	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5884541	22336308	226914313	10	449										
MYOM3	127294	hgsc.bcm.edu	37	chr1	24421474	24421474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	attccacgctggggccaaacGtcgatcctggcgtgggaatg	14	11	0	0	rs6678540	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:24421474G>A	ENST00000374434.3	-	9	959	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MYOM3_ENST00000329601.7_Missense_Mutation_p.T266M|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.T267M	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	266			T -> M (in dbSNP:rs6678540). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.			M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGGCCAAACGTCGATCCTGG	0.532													A|||	1602	0.319888	0.2746	0.2911	5008	,	,		18851	0.3383		0.4771	False		,,,				2504	0.2209				p.T266M		Atlas-SNP	.											.	MYOM3	131	.	0			c.C797T						PASS	.	A	MET/THR	1045,2801		156,733,1034	45	46	45		797	4.1	0.7	1	dbSNP_116	45	3747,4489		855,2037,1226	yes	missense	MYOM3	NM_152372.3	81	1011,2770,2260	AA,AG,GG		45.4954,27.1711,39.6623	benign	266/1438	24421474	4792,7290	1923	4118	6041	SO:0001583	missense	127294	exon9			CCAAACGTCGATC	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.797C>T	1.37:g.24421474G>A	ENSP00000363557:p.Thr266Met	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	104	7	0.0673077	NM_152372	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	820	0.37545787545787546	141	0.2865853658536585	116	0.32044198895027626	179	0.3129370629370629	384	0.5065963060686016	A	7.540	0.660523	0.14645	0.271711	0.454954	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.55930	0.53;0.53;0.49	5.18	4.06	0.47325	.	0.579783	0.19017	N	0.124919	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.0	T	0.46484	-0.9188	9	0.12430	T	0.62	.	7.2915	0.26368	0.8218:0.0:0.1782:0.0	rs6678540;rs17184616;rs52794525;rs58002450;rs6678540	266;266	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	M	266;267;266	ENSP00000363557:T266M;ENSP00000332670:T267M;ENSP00000328415:T266M	ENSP00000328415:T266M	T	-	2	0	MYOM3	24294061	0.108000	0.22018	0.674000	0.29902	0.591000	0.36615	2.024000	0.41049	0.810000	0.34279	-0.381000	0.06696	ACG	G|0.633;A|0.367	0.367	strong		0.532	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24421474	G	A	24421474	3	1	3	1	0	0	0	0	1	0	0	0	10093	1145	40	1	3632	1	MYOM3	1	24421474	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2085166	24421474	224829147	11	450										
GRHL3	57822	hgsc.bcm.edu	37	chr1	24668667	24668667	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caaaagggggtgaagggtgtCcccctgaacctgcagattga	14	9	0	4	rs11576645	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:24668667C>G	ENST00000350501.5	+	9	1237	c.1110C>G	c.(1108-1110)gtC>gtG	p.V370V	GRHL3_ENST00000236255.4_Silent_p.V375V|GRHL3_ENST00000342072.4_Silent_p.V277V|GRHL3_ENST00000361548.4_Silent_p.V370V|GRHL3_ENST00000356046.2_Silent_p.V324V	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	370					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAAGGGTGTCCCCCTGAACC	0.572													C|||	790	0.157748	0.0772	0.1527	5008	,	,		20035	0.123		0.2068	False		,,,				2504	0.2556				p.V375V		Atlas-SNP	.											.	GRHL3	69	.	0			c.C1125G						PASS	.	C	,,,	424,3982	206.5+/-228.1	21,382,1800	105	106	106		972,1125,1110,1110	3.7	1	1	dbSNP_120	106	1942,6658	342.3+/-324.4	219,1504,2577	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	,,,	240,1886,4377	GG,GC,CC		22.5814,9.6232,18.1916	,,,	324/557,375/608,370/603,370/627	24668667	2366,10640	2203	4300	6503	SO:0001819	synonymous_variant	57822	exon9			GGGTGTCCCCCTG	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1110C>G	1.37:g.24668667C>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	120	5	0.0416667	NM_021180	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	CCDS252.2																																																																																			C|0.832;G|0.168	0.168	strong		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		G	24668667	C	G	24668667	2	3	3	1	0	0	0	0	0	0	0	1	6765	842	30	4		4	GRHL3	1	24668667	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	247193	24668667	224581954	12	451										
ZSCAN20	7579	hgsc.bcm.edu	37	chr1	33960062	33960062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catcaaggcctgtaccttgcAgagaaaccctacaagtgtga	9	11	1	2	rs9943259	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:33960062A>G	ENST00000361328.3	+	8	2271	c.2118A>G	c.(2116-2118)gcA>gcG	p.A706A		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	706					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTACCTTGCAGAGAAACCCT	0.478													G|||	3769	0.752596	0.8495	0.6239	5008	,	,		19525	0.7381		0.7376	False		,,,				2504	0.7434				p.A706A		Atlas-SNP	.											ZSCAN20,NS,carcinoma,+2,2	ZSCAN20	107	2	0			c.A2118G						scavenged	.	G		3487,663		1466,555,54	103	110	108		2118	-3.4	0	1	dbSNP_119	108	6701,1799		2643,1415,192	no	coding-synonymous	ZSCAN20	NM_145238.3		4109,1970,246	GG,GA,AA		21.1647,15.9759,19.4625		706/1044	33960062	10188,2462	2075	4250	6325	SO:0001819	synonymous_variant	7579	exon8			CCTTGCAGAGAAA	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2118A>G	1.37:g.33960062A>G		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	175	6	0.0342857	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	CCDS41300.1																																																																																			A|0.230;G|0.770	0.770	strong		0.478	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33960062	A	G	33960062	2	3	3	1	0	0	0	0	0	0	0	1	18229	175	7	3		3	ZSCAN20	1	33960062	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	9291395	33960062	215290559	13	452										
CSMD2	114784	hgsc.bcm.edu	37	chr1	34071525	34071525	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgggaggagttgagttggttCtttccaactccgagagatca	13	8	2	2	rs376790279|rs1874045	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:34071525C>T	ENST00000373380.1	-	21	3183				CSMD2_ENST00000373388.2_Intron|CSMD2_ENST00000373377.1_Intron|CSMD2_ENST00000373381.4_Intron			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGTTGGTTCTTTCCAACTC	0.478													C|||	2596	0.518371	0.323	0.6787	5008	,	,		21656	0.5516		0.5755	False		,,,				2504	0.5757				p.R2096K		Atlas-SNP	.											CSMD2,brain,glioma,0,1	CSMD2	946	1	0			c.G6287A						scavenged	.	C	LYS/ARG	1744,2662	520.1+/-370.2	344,1056,803	66	65	65		6287	3	0	1	dbSNP_92	65	4953,3647	623.0+/-397.4	1436,2081,783	yes	missense	CSMD2	NM_052896.3	26	1780,3137,1586	TT,TC,CC		42.407,39.5824,48.5084		2096/3488	34071525	6697,6309	2203	4300	6503	SO:0001627	intron_variant	114784	exon42			TTGGTTCTTTCCA	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2963-455G>A	1.37:g.34071525C>T		Somatic	86	2	0.0232558		WXS	Illumina HiSeq	Phase_I	103	7	0.0679612	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37																																																																																				C|0.479;T|0.521	0.521	strong		0.478	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		T	34071525	C	T	34071525	1	4	3	0	1	0	0	0	0	0	0	0	3945	913	32	2		2	CSMD2	1	34071525	Intron	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	111463	34071525	215179096	14	453										
THRAP3	9967	hgsc.bcm.edu	37	chr1	36752152	36752152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgaggaggctatggaaactaCcgctcaaattggcagaatta	11	8	1	1	rs2242428	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:36752152C>T	ENST00000354618.5	+	4	545	c.321C>T	c.(319-321)taC>taT	p.Y107Y	THRAP3_ENST00000469141.2_Silent_p.Y107Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	107	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Y107Y(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGGAAACTACCGCTCAAATT	0.522			T	USP6	aneurysmal bone cysts								C|||	1240	0.247604	0.1036	0.2219	5008	,	,		17948	0.0754		0.4205	False		,,,				2504	0.4601				p.Y107Y	Pancreas(129;785 1795 20938 23278 32581)	Atlas-SNP	.		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	THRAP3,NS,carcinoma,+1,2	THRAP3	93	2	1	Substitution - coding silent(1)	stomach(1)	c.C321T						scavenged	.	C		615,3791	268.3+/-268.4	54,507,1642	116	117	116		321	3.9	1	1	dbSNP_98	116	3300,5300	493.9+/-373.7	624,2052,1624	no	coding-synonymous	THRAP3	NM_005119.3		678,2559,3266	TT,TC,CC		38.3721,13.9582,30.1015		107/956	36752152	3915,9091	2203	4300	6503	SO:0001819	synonymous_variant	9967	exon4			AAACTACCGCTCA	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.321C>T	1.37:g.36752152C>T		Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	135	5	0.037037	NM_005119	D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	CCDS405.1																																																																																			C|0.710;T|0.290	0.290	strong		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		T	36752152	C	T	36752152	2	4	3	1	0	0	0	0	0	0	0	1	15871	518	18	2		2	THRAP3	1	36752152	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2680627	36752152	212498469	15	454										
PTCH2	8643	hgsc.bcm.edu	37	chr1	45292173	45292173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cactcactatgaggccagccGtccaggggttgaggagcagc	14	12	1	2	rs11573590	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:45292173G>A	ENST00000372192.3	-	18	3093	c.2963C>T	c.(2962-2964)aCg>aTg	p.T988M	PTCH2_ENST00000447098.2_Missense_Mutation_p.T988M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	988			T -> M (in dbSNP:rs11573590). {ECO:0000269|Ref.5}.		epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GAGGCCAGCCGTCCAGGGGTT	0.637									Basal Cell Nevus syndrome				G|||	315	0.0628994	0.0015	0.0937	5008	,	,		19263	0.1677		0.0219	False		,,,				2504	0.0583				p.T988M		Atlas-SNP	.											PTCH2,NS,carcinoma,0,1	PTCH2	96	1	0			c.C2963T						PASS	.	G	MET/THR,MET/THR	31,4373	36.8+/-68.6	1,29,2172	35	35	35		2963,2963	0.3	0.4	1	dbSNP_120	35	178,8422	80.6+/-143.3	0,178,4122	yes	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	81,81	1,207,6294	AA,AG,GG		2.0698,0.7039,1.6072	probably-damaging,probably-damaging	988/1147,988/1204	45292173	209,12795	2202	4300	6502	SO:0001583	missense	8643	exon18	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	CCAGCCGTCCAGG	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2963C>T	1.37:g.45292173G>A	ENSP00000361266:p.Thr988Met	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	107	6	0.0560748	NM_003738	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	126	0.057692307692307696	1	0.0020325203252032522	20	0.055248618784530384	84	0.14685314685314685	21	0.027704485488126648	G	14.13	2.444673	0.43429	0.007039	0.020698	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.86366	-2.11;-2.11	4.73	0.354	0.16063	.	0.122950	0.37577	N	0.002036	T	0.03390	0.0098	L	0.56199	1.76	0.28260	P	0.9248696	P;P	0.47106	0.843;0.89	B;P	0.55923	0.408;0.787	T	0.58640	-0.7601	9	0.66056	D	0.02	-28.2945	9.4813	0.38902	0.3114:0.0:0.6886:0.0	rs11573590;rs11573590	988;988	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	988	ENSP00000389703:T988M;ENSP00000361266:T988M	ENSP00000361266:T988M	T	-	2	0	PTCH2	45064760	1.000000	0.71417	0.364000	0.25888	0.984000	0.73092	3.651000	0.54431	-0.012000	0.14223	-0.137000	0.14449	ACG	G|0.962;A|0.038	0.038	strong		0.637	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		A	45292173	G	A	45292173	3	1	3	1	0	0	0	0	1	0	0	0	12731	1145	40	1	688	1	PTCH2	1	45292173	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8540021	45292173	203958448	16	455										
CYP4A11	1579	hgsc.bcm.edu	37	chr1	47395874	47395874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatttcaacacaagtcgtgcAatggggatggggatcctggt	14	7	1	0	rs148507594	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:47395874A>C	ENST00000310638.4	-	12	1504	c.1473T>G	c.(1471-1473)atT>atG	p.I491M	CYP4A11_ENST00000462347.1_Missense_Mutation_p.I393M|CYP4A11_ENST00000371904.4_Missense_Mutation_p.I492M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	491					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.I491M(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAAGTCGTGCAATGGGGATGG	0.562													N|||	7	0.00139776	0.0015	0.0	5008	,	,		21860	0.0		0.001	False		,,,				2504	0.0041				p.I491M		Atlas-SNP	.											CYP4A11,NS,carcinoma,0,1	CYP4A11	77	1	1	Substitution - Missense(1)	endometrium(1)	c.T1473G						scavenged	.						124	109	114					1																	47395874		2203	4300	6503	SO:0001583	missense	1579	exon12			TCGTGCAATGGGG	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1473T>G	1.37:g.47395874A>C	ENSP00000311095:p.Ile491Met	Somatic	158	5	0.0316456		WXS	Illumina HiSeq	Phase_I	134	5	0.0373134	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	A	5.139	0.211298	0.09757	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70164	-0.46;-0.46	4.41	-8.82	0.00810	.	1.064920	0.07281	N	0.870735	T	0.37237	0.0996	N	0.17564	0.495	0.09310	N	1	B	0.09022	0.002	B	0.23018	0.043	T	0.24799	-1.0150	10	0.13108	T	0.6	.	2.0606	0.03591	0.2182:0.3451:0.2706:0.166	.	491	Q02928	CP4AB_HUMAN	M	491;492	ENSP00000311095:I491M;ENSP00000360971:I492M	ENSP00000311095:I491M	I	-	3	3	CYP4A11	47168461	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.724000	0.00809	-2.209000	0.00739	-1.524000	0.00929	ATT	.	.	weak		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47395874	A	C	47395874	3	2	3	1	0	0	0	0	1	0	0	0	4183	126	5	5	90	5	CYP4A11	1	47395874	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2103701	47395874	201854747	17	456										
L1TD1	54596	hgsc.bcm.edu	37	chr1	62675619	62675619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaggagctggatgaagaggcCtcagggatggaggatgatga	19	4	1	4	rs4625314	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:62675619C>T	ENST00000498273.1	+	4	1468	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	391	Glu-rich.							p.A391A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ATGAAGAGGCCTCAGGGATGG	0.493													C|||	1495	0.298522	0.2769	0.3473	5008	,	,		16813	0.1091		0.492	False		,,,				2504	0.2894				p.A391A		Atlas-SNP	.											L1TD1,NS,carcinoma,0,1	L1TD1	114	1	1	Substitution - coding silent(1)	stomach(1)	c.C1173T						scavenged	.	C	,	1485,2921	448.1+/-348.6	247,991,965	60	67	64		1173,1173	-2.5	0	1	dbSNP_111	64	4405,4193	563.7+/-388.2	1145,2115,1039	no	coding-synonymous,coding-synonymous	L1TD1	NM_001164835.1,NM_019079.4	,	1392,3106,2004	TT,TC,CC		48.7672,33.704,45.2938	,	391/866,391/866	62675619	5890,7114	2203	4299	6502	SO:0001819	synonymous_variant	54596	exon5			AGAGGCCTCAGGG	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1173C>T	1.37:g.62675619C>T		Somatic	280	2	0.00714286		WXS	Illumina HiSeq	Phase_I	185	9	0.0486486	NM_001164835	Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	CCDS619.1																																																																																			C|0.605;T|0.395	0.395	strong		0.493	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		T	62675619	C	T	62675619	2	4	3	1	0	0	0	0	0	0	0	1	8589	668	24	2		2	L1TD1	1	62675619	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	15279745	62675619	186575002	18	457										
LRRIQ3	127255	hgsc.bcm.edu	37	chr1	74648408	74648408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggcttactggacaatcaaaCatagtgagggcaatgagggt	13	6	1	2	rs17094900	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:74648408C>T	ENST00000395089.1	-	2	386	c.387G>A	c.(385-387)atG>atA	p.M129I	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.M129I|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.M129I|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	129			M -> I (in dbSNP:rs17094900).							NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GACAATCAAACATAGTGAGGG	0.373													C|||	348	0.0694888	0.0189	0.0576	5008	,	,		14103	0.1012		0.0368	False		,,,				2504	0.1472				p.M129I		Atlas-SNP	.											.	LRRIQ3	146	.	0			c.G387A						PASS	.	C	ILE/MET	79,4327	65.8+/-103.3	2,75,2126	107	102	104		387	5.7	1	1	dbSNP_123	104	358,8240	119.5+/-178.9	10,338,3951	yes	missense	LRRIQ3	NM_001105659.1	10	12,413,6077	TT,TC,CC		4.1638,1.793,3.3605	benign	129/625	74648408	437,12567	2203	4299	6502	SO:0001583	missense	127255	exon3			ATCAAACATAGTG	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.387G>A	1.37:g.74648408C>T	ENSP00000378524:p.Met129Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	117	0.05357142857142857	10	0.02032520325203252	26	0.0718232044198895	58	0.10139860139860139	23	0.030343007915567283	C	16.63	3.175996	0.57692	0.01793	0.041638	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.21543	2.0;2.0;2.0	5.65	5.65	0.86999	.	0.494621	0.21245	N	0.077749	T	0.16385	0.0394	M	0.64997	1.995	0.38532	D	0.948998	B	0.19445	0.036	B	0.17979	0.02	T	0.01729	-1.1286	10	0.49607	T	0.09	.	18.4988	0.90874	0.0:1.0:0.0:0.0	rs17094900;rs17094900	129	A6PVS8	LRIQ3_HUMAN	I	129	ENSP00000378524:M129I;ENSP00000346414:M129I;ENSP00000359948:M129I	ENSP00000346414:M129I	M	-	3	0	LRRIQ3	74420996	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.510000	0.67018	2.653000	0.90120	0.650000	0.86243	ATG	C|0.956;T|0.044	0.044	strong		0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		T	74648408	C	T	74648408	3	4	3	1	0	0	0	0	1	0	0	0	9030	478	17	2	1511	2	LRRIQ3	1	74648408	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	11972789	74648408	174602213	19	458										
LHX8	431707	hgsc.bcm.edu	37	chr1	75622616	75622616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agagcacgccacaagaaacaCgtcagtcctaatcactcatc	6	14	3	2	rs941032	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:75622616C>T	ENST00000294638.5	+	9	1513	c.849C>T	c.(847-849)caC>caT	p.H283H	LHX8_ENST00000356261.3_Silent_p.H273H	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	283					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACAAGAAACACGTCAGTCCTA	0.502													C|||	1973	0.39397	0.4758	0.3026	5008	,	,		17790	0.2063		0.3907	False		,,,				2504	0.545				p.H283H		Atlas-SNP	.											.	LHX8	73	.	0			c.C849T						PASS	.	C		2044,2362	566.8+/-382.0	484,1076,643	291	261	272		849	-3	0.8	1	dbSNP_86	272	3551,5049	517.5+/-379.0	748,2055,1497	yes	coding-synonymous	LHX8	NM_001001933.1		1232,3131,2140	TT,TC,CC		41.2907,46.3913,43.0186		283/357	75622616	5595,7411	2203	4300	6503	SO:0001819	synonymous_variant	431707	exon9			GAAACACGTCAGT	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.849C>T	1.37:g.75622616C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_001001933	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																			C|0.598;N|0.000	.	strong		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		T	75622616	C	T	75622616	2	4	3	1	0	0	0	0	0	0	0	1	8776	535	19	1		1	LHX8	1	75622616	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	974208	75622616	173628005	20	459										
IFI44L	10964	hgsc.bcm.edu	37	chr1	79093818	79093818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggaaattatattaatttacAtgaaagttctacagagccaa	6	5	1	2	rs273259	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:79093818A>G	ENST00000370751.5	+	2	397	c.218A>G	c.(217-219)cAt>cGt	p.H73R	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	73			H -> R (in dbSNP:rs273259). {ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTAATTTACATGAAAGTTCT	0.328													G|||	2228	0.444888	0.3608	0.3545	5008	,	,		17848	0.751		0.3449	False		,,,				2504	0.41				p.H73R		Atlas-SNP	.											.	IFI44L	93	.	0			c.A218G						PASS	.	G	ARG/HIS	1658,2748	639.2+/-397.1	332,994,877	57	60	59		218	-6.2	0	1	dbSNP_79	59	2812,5788	669.2+/-402.6	463,1886,1951	yes	missense	IFI44L	NM_006820.2	29	795,2880,2828	GG,GA,AA		32.6977,37.6305,34.3688	benign	73/453	79093818	4470,8536	2203	4300	6503	SO:0001583	missense	10964	exon2			ATTTACATGAAAG	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.218A>G	1.37:g.79093818A>G	ENSP00000359787:p.His73Arg	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	105	6	0.0571429	NM_006820	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	979	0.4482600732600733	159	0.3231707317073171	115	0.31767955801104975	442	0.7727272727272727	263	0.3469656992084433	G	0.003	-2.572666	0.00133	0.376305	0.326977	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.31510	1.49;3.18;2.58	3.1	-6.2	0.02072	.	4.699020	0.01184	N	0.007166	T	0.01558	0.0050	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10590	-1.0623	9	0.13853	T	0.58	.	1.5275	0.02528	0.4325:0.2384:0.1325:0.1966	rs273259;rs481313;rs52793488;rs60945929;rs273259	73	Q53G44	IF44L_HUMAN	R	73;73;50	ENSP00000409914:H73R;ENSP00000359787:H73R;ENSP00000400784:H50R	ENSP00000359787:H73R	H	+	2	0	IFI44L	78866406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.458000	0.00121	-6.276000	0.00005	-2.893000	0.00094	CAT	G|0.407;N|0.001	0.407	strong		0.328	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		G	79093818	A	G	79093818	3	3	3	1	0	0	0	0	1	0	0	0	7518	217	8	2	220	2	IFI44L	1	79093818	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3471202	79093818	170156803	21	460										
IFI44L	10964	hgsc.bcm.edu	37	chr1	79095581	79095581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agccgtagtggggtctgataTcaccagcataaccgagcggg	14	10	2	1	rs987495	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:79095581T>C	ENST00000370751.5	+	4	883	c.704T>C	c.(703-705)aTc>aCc	p.I235T	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	235			I -> T (in dbSNP:rs987495). {ECO:0000269|Ref.1}.		defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGGTCTGATATCACCAGCATA	0.408													T|||	1074	0.214457	0.1195	0.2709	5008	,	,		15403	0.245		0.2505	False		,,,				2504	0.2342				p.I235T		Atlas-SNP	.											IFI44L,NS,carcinoma,-1,1	IFI44L	93	1	0			c.T704C						scavenged	.	T	THR/ILE	638,3768	274.9+/-272.2	44,550,1609	81	82	81		704	-5.6	0	1	dbSNP_86	81	2111,6489	364.0+/-333.3	259,1593,2448	yes	missense	IFI44L	NM_006820.2	89	303,2143,4057	CC,CT,TT		24.5465,14.4803,21.1364	benign	235/453	79095581	2749,10257	2203	4300	6503	SO:0001583	missense	10964	exon4			CTGATATCACCAG	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.704T>C	1.37:g.79095581T>C	ENSP00000359787:p.Ile235Thr	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	127	4	0.0314961	NM_006820	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	468	0.21428571428571427	45	0.09146341463414634	84	0.23204419889502761	141	0.2465034965034965	198	0.2612137203166227	T	0.144	-1.098806	0.01843	0.144803	0.245465	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.13196	2.82;2.61	2.82	-5.64	0.02466	.	1.995390	0.02289	N	0.070148	T	0.00936	0.0031	N	0.02539	-0.55	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	0.12430	T	0.62	3.8519	4.0787	0.09916	0.406:0.1735:0.0:0.4204	rs987495;rs3766326;rs52810523;rs58826484;rs987495	235	Q53G44	IF44L_HUMAN	T	235;212	ENSP00000359787:I235T;ENSP00000400784:I212T	ENSP00000359787:I235T	I	+	2	0	IFI44L	78868169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.687000	0.01927	-2.136000	0.00810	-2.622000	0.00156	ATC	T|0.785;G|0.001	.	strong		0.408	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		C	79095581	T	C	79095581	3	2	3	1	0	0	0	0	1	0	0	0	7518	1435	50	2	714	2	IFI44L	1	79095581	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1763	79095581	170155040	22	461										
DNTTIP2	30836	hgsc.bcm.edu	37	chr1	94343023	94343023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctcctgtagttttttctgtAggaagcacaattctagaaat	8	7	2	1	rs2391322	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:94343023A>G	ENST00000436063.2	-	2	525	c.468T>C	c.(466-468)ccT>ccC	p.P156P	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTTTCTGTAGGAAGCACAA	0.393													G|||	2188	0.436901	0.3782	0.3718	5008	,	,		20363	0.5585		0.3499	False		,,,				2504	0.5266				p.P156P		Atlas-SNP	.											.	DNTTIP2	59	.	0			c.T468C						PASS	.	G		1395,2271		250,895,688	112	104	106		468	-0.4	0	1	dbSNP_100	106	2925,5263		505,1915,1674	no	coding-synonymous	DNTTIP2	NM_014597.4		755,2810,2362	GG,GA,AA		35.723,38.0524,36.4434		156/757	94343023	4320,7534	1833	4094	5927	SO:0001819	synonymous_variant	30836	exon2			TTCTGTAGGAAGC	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.468T>C	1.37:g.94343023A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																			A|0.587;G|0.413	0.413	strong		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		G	94343023	A	G	94343023	2	3	3	1	0	0	0	0	0	0	0	1	4682	407	15	3		3	DNTTIP2	1	94343023	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	15247442	94343023	154907598	23	462										
PALMD	54873	hgsc.bcm.edu	37	chr1	100159608	100159608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aatggcaaagctgggaaaaaAggtgatctaagagttgtacc	12	5	1	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:100159608A>G	ENST00000263174.4	+	8	2021	c.1646A>G	c.(1645-1647)aAg>aGg	p.K549R		NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	549					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTGGGAAAAAAGGTGATCTAA	0.299																																					p.K549R		Atlas-SNP	.											PALMD,colon,carcinoma,-1,1	PALMD	64	1	0			c.A1646G						scavenged	.						40	43	42					1																	100159608		2203	4299	6502	SO:0001583	missense	54873	exon8			GAAAAAAGGTGAT	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1646A>G	1.37:g.100159608A>G	ENSP00000263174:p.Lys549Arg	Somatic	512	0	0		WXS	Illumina HiSeq	Phase_I	562	6	0.0106762	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404501	0.25378	.	.	ENSG00000099260	ENST00000263174	T	0.20881	2.04	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.12305	0.0299	M	0.61703	1.905	0.43693	D	0.996149	B	0.30664	0.289	B	0.28784	0.094	T	0.02983	-1.1086	10	0.46703	T	0.11	-33.5149	11.2648	0.49104	0.9294:0.0:0.0706:0.0	.	549	Q9NP74	PALMD_HUMAN	R	549	ENSP00000263174:K549R	ENSP00000263174:K549R	K	+	2	0	PALMD	99932196	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	2.749000	0.47492	2.240000	0.73641	0.528000	0.53228	AAG	.	.	none		0.299	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		G	100159608	A	G	100159608	3	3	3	1	0	0	0	0	1	0	0	0	11411	72	3	3	1676	3	PALMD	1	100159608	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	5816585	100159608	149091013	24	463										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103379918	103379918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgatacttactgcagggccaGgttccccaggaggaccagga	13	11	0	1	rs3753841	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:103379918G>A	ENST00000370096.3	-	52	4280	c.3968C>T	c.(3967-3969)cCt>cTt	p.P1323L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1284L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1207L|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1335L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1323	Triple-helical region.		P -> L (in dbSNP:rs3753841). {ECO:0000269|PubMed:10486316, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1690726}.		cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCAGGGCCAGGTTCCCCAGG	0.318													G|||	2487	0.496605	0.0492	0.755	5008	,	,		14366	0.7034		0.6123	False		,,,				2504	0.5859				p.P1335L		Atlas-SNP	.											.	COL11A1	972	.	0			c.C4004T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	615,3791	245.0+/-254.1	51,513,1639	33	34	34		3851,3968,4004,3620	5.8	1	1	dbSNP_107	34	5260,3340	623.3+/-397.4	1623,2014,663	yes	missense,missense,missense,missense	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	98,98,98,98	1674,2527,2302	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	38.8372,13.9582,45.1715	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1284/1768,1323/1807,1335/1819,1207/1691	103379918	5875,7131	2203	4300	6503	SO:0001583	missense	1301	exon52			GGGCCAGGTTCCC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3968C>T	1.37:g.103379918G>A	ENSP00000359114:p.Pro1323Leu	Somatic	376	0	0		WXS	Illumina HiSeq	Phase_I	314	17	0.0541401	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	1163	0.5325091575091575	29	0.05894308943089431	266	0.7348066298342542	406	0.7097902097902098	462	0.6094986807387863	G	21.2	4.107244	0.77096	0.139582	0.611628	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.75	5.75	0.90469	.	0.058834	0.64402	D	0.000001	D	0.97417	0.9155	M	0.85373	2.75	0.09310	P	0.999999999630763	B;B;P;B;B	0.50443	0.104;0.073;0.935;0.044;0.167	B;B;P;B;B	0.53006	0.024;0.053;0.715;0.024;0.053	D	0.96950	0.9694	9	0.49607	T	0.09	.	19.9598	0.97242	0.0:0.0:1.0:0.0	rs3753841;rs17446207;rs52824780;rs59687016;rs3753841	1207;1284;1335;1323;543	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	1323;1335;1284;543;1207	ENSP00000359114:P1323L;ENSP00000351163:P1335L;ENSP00000302551:P1284L;ENSP00000426533:P1207L	ENSP00000302551:P1284L	P	-	2	0	COL11A1	103152506	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	9.365000	0.97139	2.716000	0.92895	0.655000	0.94253	CCT	G|0.517;A|0.483	0.483	strong		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103379918	G	A	103379918	3	1	3	1	0	0	0	0	1	0	0	0	3667	1000	35	2	1516	2	COL11A1	1	103379918	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3220310	103379918	145870703	25	464										
CHIA	27159	hgsc.bcm.edu	37	chr1	111861841	111861841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtgggttggctatgacaacAtcaagagcttcgatattaag	11	6	1	2	rs2275253	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:111861841A>G	ENST00000369740.1	+	10	1118	c.1015A>G	c.(1015-1017)Atc>Gtc	p.I339V	CHIA_ENST00000353665.6_Missense_Mutation_p.I178V|CHIA_ENST00000451398.2_Missense_Mutation_p.I178V|CHIA_ENST00000430615.1_Missense_Mutation_p.I231V|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.I178V|CHIA_ENST00000343320.6_Missense_Mutation_p.I339V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	339			I -> V (in dbSNP:rs2275253). {ECO:0000269|PubMed:10548734, ECO:0000269|PubMed:19435888}.		apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTATGACAACATCAAGAGCTT	0.483													G|||	3301	0.659145	0.7958	0.4251	5008	,	,		19240	0.4802		0.7107	False		,,,				2504	0.772				p.I339V		Atlas-SNP	.											CHIA_ENST00000369740,NS,adenoma,0,2	CHIA	115	2	0			c.A1015G						scavenged	.	G	VAL/ILE,VAL/ILE	3404,1002	373.7+/-320.9	1306,792,105	144	133	137		691,1015	-3.2	0	1	dbSNP_100	137	5991,2609	423.7+/-354.4	2072,1847,381	yes	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	3378,2639,486	GG,GA,AA		30.3372,22.7417,27.7641	benign,benign	231/369,339/477	111861841	9395,3611	2203	4300	6503	SO:0001583	missense	27159	exon10			GACAACATCAAGA	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1015A>G	1.37:g.111861841A>G	ENSP00000358755:p.Ile339Val	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	145	5	0.0344828	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	1349	0.6176739926739927	381	0.774390243902439	181	0.5	243	0.42482517482517484	544	0.7176781002638523	G	0.005	-2.143235	0.00332	0.772583	0.696628	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.07	-3.21	0.05140	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.502070	0.04586	N	0.395946	T	0.00468	0.0015	N	0.01417	-0.88	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48340	-0.9044	9	0.12430	T	0.62	-7.1983	8.0421	0.30527	0.4942:0.1047:0.4011:0.0	rs2275253;rs2820091;rs17027422;rs59924337;rs2275253	339	Q9BZP6	CHIA_HUMAN	V	283;178;339;339;178;178;178;231	ENSP00000387671:I283V;ENSP00000436946:I178V;ENSP00000358755:I339V;ENSP00000341828:I339V;ENSP00000390476:I178V;ENSP00000338970:I178V;ENSP00000433309:I178V;ENSP00000391132:I231V	ENSP00000341828:I339V	I	+	1	0	CHIA	111663364	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.478000	0.06575	-0.795000	0.04462	-0.119000	0.15052	ATC	A|0.322;G|0.678	0.678	strong		0.483	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			G	111861841	A	G	111861841	3	3	3	1	0	0	0	0	1	0	0	0	3342	217	8	2	1049	2	CHIA	1	111861841	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	8481923	111861841	137388780	26	465										
CASQ2	845	hgsc.bcm.edu	37	chr1	116310967	116310967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagttggaactgtttttgcgTgaccttatctgaagacaccg	10	9	1	3	rs4074536	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:116310967T>C	ENST00000261448.5	-	1	435	c.196A>G	c.(196-198)Acg>Gcg	p.T66A	CASQ2_ENST00000456138.2_Missense_Mutation_p.T66A	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	66			T -> A (no effect on calcium-binding and calcium-dependent dimerization; dbSNP:rs4074536). {ECO:0000269|PubMed:14571276, ECO:0000269|PubMed:17881003}.		cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTTTTTGCGTGACCTTATCT	0.473													C|||	2009	0.401158	0.4856	0.3674	5008	,	,		19899	0.5159		0.2922	False		,,,				2504	0.3047				p.T66A		Atlas-SNP	.											CASQ2,colon,carcinoma,0,1	CASQ2	54	1	0			c.A196G						PASS	.	C	ALA/THR	1928,2478	622.1+/-393.9	416,1096,691	175	166	169	http://www.ncbi.nlm.nih.gov/pubmed?term	196	3.4	0	1	dbSNP_108	169	2486,6114	695.2+/-404.8	347,1792,2161	yes	missense	CASQ2	NM_001232.3	58	763,2888,2852	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	28.907,43.7585,33.9382	benign	66/400	116310967	4414,8592	2203	4300	6503	SO:0001583	missense	845	exon1			TTTGCGTGACCTT	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.196A>G	1.37:g.116310967T>C	ENSP00000261448:p.Thr66Ala	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	902	0.413003663003663	253	0.5142276422764228	133	0.3674033149171271	285	0.4982517482517482	231	0.30474934036939316	C	0.005	-2.171649	0.00315	0.437585	0.28907	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.37752	1.18;1.18	5.49	3.44	0.39384	Thioredoxin-like fold (2);	0.442334	0.26300	N	0.025162	T	0.02047	0.0064	N	0.00289	-1.7	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43410	-0.9393	9	0.05959	T	0.93	-3.1292	8.6205	0.33857	0.3705:0.5482:0.0:0.0813	rs4074536;rs52800545;rs59883665;rs4074536	66;66	B4DIB0;O14958	.;CASQ2_HUMAN	A	66	ENSP00000261448:T66A;ENSP00000403858:T66A	ENSP00000261448:T66A	T	-	1	0	CASQ2	116112490	0.257000	0.24022	0.001000	0.08648	0.019000	0.09904	1.594000	0.36697	0.685000	0.31468	-0.186000	0.12905	ACG	T|0.631;C|0.369	0.369	strong		0.473	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		C	116310967	T	C	116310967	3	2	3	1	0	0	0	0	1	0	0	0	2681	1696	59	2	1047	2	CASQ2	1	116310967	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	4449126	116310967	132939654	27	466										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	7	11	3	1	rs55936365		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V		Atlas-SNP	.											NBPF10,NS,carcinoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	kidney(2)	c.C130G						scavenged	.																																			SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val	Somatic	53	4	0.0754717		WXS	Illumina HiSeq	Phase_I	55	7	0.127273	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT	.	.	weak		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145293535	C	G	145293535	3	3	3	1	0	0	0	0	1	0	0	0	10193	912	32	4	132	4	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	28982568	145293535	103957086	28	467										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145301793	145301793	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcaaggaggagaagcttgcAgagcagctcaagcaagctga	13	8	2	3	rs5020524	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:145301793A>G	ENST00000369339.3	+	4	502	c.249A>G	c.(247-249)gcA>gcG	p.A83A	NBPF10_ENST00000369338.1_Silent_p.A83A|NBPF10_ENST00000342960.5_Silent_p.A354A|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	354						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGCTTGCAGAGCAGCTCA	0.532																																					p.A354A		Atlas-SNP	.											NBPF10_ENST00000369338,caecum,carcinoma,0,2	NBPF10	221	2	0			c.A1062G						scavenged	.																																			SO:0001819	synonymous_variant	100132406	exon7			GCTTGCAGAGCAG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.249A>G	1.37:g.145301793A>G		Somatic	22	3	0.136364		WXS	Illumina HiSeq	Phase_I	22	6	0.272727	NM_001039703	Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37																																																																																				A|0.602;G|0.398	0.398	strong		0.532	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145301793	A	G	145301793	2	3	3	1	0	0	0	0	0	0	0	1	10193	175	7	3		3	NBPF10	1	145301793	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	8258	145301793	103948828	29	468										
CHD1L	9557	hgsc.bcm.edu	37	chr1	146736092	146736092	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtatttgagttctcagtagtCttcagtctcctgttgaccgg	10	9	4	2	rs4950315	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:146736092C>T	ENST00000369258.4	+	7	608	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000431239.1_Silent_p.V196V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	196	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TCTCAGTAGTCTTCAGTCTCC	0.438													C|||	737	0.147165	0.0076	0.1931	5008	,	,		17562	0.1111		0.2306	False		,,,				2504	0.2546				p.V196V		Atlas-SNP	.											.	CHD1L	72	.	0			c.C588T						PASS	.	C		208,4196	124.1+/-161.4	5,198,1999	53	47	49		588	2.4	1	1	dbSNP_111	49	2003,6597	328.2+/-318.2	225,1553,2522	no	coding-synonymous	CHD1L	NM_004284.3		230,1751,4521	TT,TC,CC		23.2907,4.723,17.0025		196/898	146736092	2211,10793	2202	4300	6502	SO:0001819	synonymous_variant	9557	exon7			AGTAGTCTTCAGT	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.588C>T	1.37:g.146736092C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	132	6	0.0454545	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	CCDS927.1																																																																																			C|0.864;T|0.136	0.136	strong		0.438	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146736092	C	T	146736092	2	4	3	1	0	0	0	0	0	0	0	1	3324	900	32	2		2	CHD1L	1	146736092	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1434299	146736092	102514529	30	469										
PIP5K1A	8394	hgsc.bcm.edu	37	chr1	151215011	151215011	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaccccagtttctcacctctAgttggagagactttgcaaat	8	11	2	1	rs61729862	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:151215011A>G	ENST00000368888.4	+	14	2030	c.1608A>G	c.(1606-1608)ctA>ctG	p.L536L	PIP5K1A_ENST00000409426.1_Silent_p.L524L|PIP5K1A_ENST00000441902.2_Silent_p.L496L|PIP5K1A_ENST00000368890.4_Silent_p.L474L|PIP5K1A_ENST00000414290.2_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	536					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.L523L(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCACCTCTAGTTGGAGAGA	0.453													A|||	188	0.0375399	0.0	0.1023	5008	,	,		19086	0.0863		0.0219	False		,,,				2504	0.0082				p.L536L	Pancreas(80;36 1443 2325 16095 21302)	Atlas-SNP	.											PIP5K1A,NS,carcinoma,0,1	PIP5K1A	61	1	1	Substitution - coding silent(1)	stomach(1)	c.A1608G						scavenged	.	A	,,,	26,4380	30.8+/-60.4	0,26,2177	96	96	96		1488,1422,1608,1569	3.2	1	1	dbSNP_129	96	188,8412	84.8+/-147.2	1,186,4113	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PIP5K1A	NM_001135636.1,NM_001135637.1,NM_001135638.1,NM_003557.2	,,,	1,212,6290	GG,GA,AA		2.186,0.5901,1.6454	,,,	496/523,474/501,536/563,523/550	151215011	214,12792	2203	4300	6503	SO:0001819	synonymous_variant	8394	exon14			ACCTCTAGTTGGA	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1608A>G	1.37:g.151215011A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	NM_001135638	A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	CCDS44219.1																																																																																			A|0.975;G|0.025	0.025	strong		0.453	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		G	151215011	A	G	151215011	2	3	3	1	0	0	0	0	0	0	0	1	11939	407	15	3		3	PIP5K1A	1	151215011	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	4478919	151215011	98035610	31	470										
RPTN	126638	hgsc.bcm.edu	37	chr1	152127455	152127455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagtttgatggccctgctctTcctctgcccagtggctcagc	10	14	3	1	rs75957773	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:152127455T>C	ENST00000316073.3	-	3	2184	c.2120A>G	c.(2119-2121)gAa>gGa	p.E707G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	707	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCCTGCTCTTCCTCTGCCCA	0.562													T|||	281	0.0561102	0.0053	0.0965	5008	,	,		21543	0.001		0.1362	False		,,,				2504	0.0706				p.E707G		Atlas-SNP	.											RPTN,NS,carcinoma,0,1	RPTN	123	1	0			c.A2120G						scavenged	.	T	GLY/GLU	79,3057		0,79,1489	306	251	268		2120	2.8	0	1	dbSNP_131	268	981,6183		62,857,2663	yes	missense	RPTN	NM_001122965.1	98	62,936,4152	CC,CT,TT		13.6935,2.5191,10.2913	probably-damaging	707/785	152127455	1060,9240	1568	3582	5150	SO:0001583	missense	126638	exon3			TGCTCTTCCTCTG	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2120A>G	1.37:g.152127455T>C	ENSP00000317895:p.Glu707Gly	Somatic	87	1	0.0114943		WXS	Illumina HiSeq	Phase_I	67	4	0.0597015	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	149	0.06822344322344322	3	0.006097560975609756	40	0.11049723756906077	0	0.0	106	0.13984168865435356	T	11.43	1.636369	0.29068	0.025191	0.136935	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.23147	1.92	5.15	2.82	0.32997	.	.	.	.	.	T	0.10035	0.0246	M	0.61703	1.905	0.80722	P	0.0	B	0.32101	0.356	B	0.30855	0.121	T	0.13335	-1.0513	8	0.25751	T	0.34	0.1107	7.9769	0.30159	0.0:0.1718:0.0:0.8282	.	707	Q6XPR3	RPTN_HUMAN	G	707;362	ENSP00000317895:E707G	ENSP00000317895:E707G	E	-	2	0	RPTN	150394079	.	.	0.007000	0.13788	0.104000	0.19210	.	.	0.300000	0.22699	0.523000	0.50628	GAA	T|0.884;C|0.116	0.116	strong		0.562	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152127455	T	C	152127455	3	2	3	1	0	0	0	0	1	0	0	0	13664	1783	62	2	238	2	RPTN	1	152127455	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	912444	152127455	97123166	32	471										
LCE3D	84648	hgsc.bcm.edu	37	chr1	152552285	152552285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cctcggagctagggccacagCccccagagcttggggcacag	14	15	0	1	rs512208	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:152552285C>A	ENST00000368787.3	-	2	184	c.128G>T	c.(127-129)gGc>gTc	p.G43V		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	43			G -> V (in dbSNP:rs512208). {ECO:0000269|PubMed:15489334}.		keratinization (GO:0031424)			p.G43V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		AGGGCCACAGCCCCCAGAGCT	0.662													C|||	1386	0.276757	0.1384	0.2853	5008	,	,		15854	0.3264		0.3827	False		,,,				2504	0.2975				p.G43V		Atlas-SNP	.											LCE3D,NS,carcinoma,0,1	LCE3D	28	1	1	Substitution - Missense(1)	stomach(1)	c.G128T						scavenged	.	C	VAL/GLY	789,3617	316.1+/-294.4	78,633,1492	57	66	63		128	0.3	0.6	1	dbSNP_83	63	3138,5454	473.4+/-368.6	598,1942,1756	no	missense	LCE3D	NM_032563.1	109	676,2575,3248	AA,AC,CC		36.5223,17.9074,30.2123	benign	43/93	152552285	3927,9071	2203	4296	6499	SO:0001583	missense	84648	exon2			CCACAGCCCCCAG	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"Late cornified envelopes"	16615	protein-coding gene	gene with protein product		612616	"small proline rich-like (epidermal differentiation complex) 6B"	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.128G>T	1.37:g.152552285C>A	ENSP00000357776:p.Gly43Val	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	147	4	0.0272109	NM_032563	Q3MIL1	Missense_Mutation	SNP	ENST00000368787.3	37	CCDS1014.1	655	0.2999084249084249	68	0.13821138211382114	103	0.2845303867403315	188	0.32867132867132864	296	0.39050131926121373	C	0.190	-1.053864	0.01965	0.179074	0.365223	ENSG00000163202	ENST00000368787	T	0.03982	3.74	3.63	0.259	0.15583	.	.	.	.	.	T	0.01222	0.0040	.	.	.	0.48135	P	4.089999999999927E-4	B	0.34181	0.44	B	0.33750	0.169	T	0.50294	-0.8845	7	0.34782	T	0.22	.	6.4364	0.21825	0.1979:0.4157:0.3864:0.0	rs512208	43	Q9BYE3	LCE3D_HUMAN	V	43	ENSP00000357776:G43V	ENSP00000357776:G43V	G	-	2	0	LCE3D	150818909	0.111000	0.22076	0.642000	0.29436	0.005000	0.04900	0.010000	0.13242	0.318000	0.23185	-0.929000	0.02709	GGC	C|0.986;A|0.014	0.014	weak		0.662	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		A	152552285	C	A	152552285	3	1	3	1	0	0	0	0	1	0	0	0	8672	739	26	4	154	4	LCE3D	1	152552285	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	424830	152552285	96698336	33	472										
S100A7A	338324	hgsc.bcm.edu	37	chr1	153391729	153391729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccttgctgggagacatagccGcagactaccacaagcagagc	11	13	0	3	rs3006414	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:153391729G>A	ENST00000368729.4	+	3	307	c.250G>A	c.(250-252)Gca>Aca	p.A84T	S100A7A_ENST00000329256.2_Missense_Mutation_p.A84T|S100A7A_ENST00000368728.2_Missense_Mutation_p.A84T	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> T (in dbSNP:rs3006414).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A84T(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACATAGCCGCAGACTACCA	0.527													a|||	1047	0.209065	0.4766	0.1686	5008	,	,		16030	0.1379		0.0835	False		,,,				2504	0.0787				p.A84T		Atlas-SNP	.											S100A7A,rectum,carcinoma,0,2	S100A7A	24	2	1	Substitution - Missense(1)	stomach(1)	c.G250A						scavenged	.	A	THR/ALA	1893,2513		408,1077,718	81	76	78		250	-2.9	0	1	dbSNP_101	78	765,7835		32,701,3567	no	missense	S100A7A	NM_176823.3	58	440,1778,4285	AA,AG,GG		8.8953,42.9641,20.4367	benign	84/102	153391729	2658,10348	2203	4300	6503	SO:0001583	missense	338324	exon3			ATAGCCGCAGACT	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.250G>A	1.37:g.153391729G>A	ENSP00000357718:p.Ala84Thr	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	289	5	0.017301	NM_176823	D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	436	0.19963369963369965	229	0.4654471544715447	55	0.15193370165745856	85	0.1486013986013986	67	0.08839050131926121	.	0.009	-1.820264	0.00595	0.429641	0.088953	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.06142	3.34;3.34;3.34	1.7	-2.9	0.05648	EF-hand-like domain (1);	.	.	.	.	T	0.00328	0.0010	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	8	0.09843	T	0.71	.	3.6925	0.08351	0.2976:0.0:0.4869:0.2155	rs3006414;rs57686181;rs3006414	84	Q86SG5	S1A7A_HUMAN	T	84	ENSP00000357718:A84T;ENSP00000357717:A84T;ENSP00000329008:A84T	ENSP00000329008:A84T	A	+	1	0	S100A7A	151658353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.964000	0.01512	-1.503000	0.01812	-2.435000	0.00213	GCA	.	.	weak		0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		A	153391729	G	A	153391729	3	1	3	1	0	0	0	0	1	0	0	0	13784	1087	38	1	256	1	S100A7A	1	153391729	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	839444	153391729	95858892	34	473										
INTS3	65123	hgsc.bcm.edu	37	chr1	153719461	153719461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggacttagctctggtgagtcGtgatggcatgaatattgtcc	13	7	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:153719461G>A	ENST00000318967.2	+	4	915	c.347G>A	c.(346-348)cGt>cAt	p.R116H	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.R116H|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	116					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGTGAGTCGTGATGGCATG	0.488																																					p.R116H		Atlas-SNP	.											.	INTS3	83	.	0			c.G347A						PASS	.						109	108	108					1																	153719461		2203	4300	6503	SO:0001583	missense	65123	exon4			TGAGTCGTGATGG	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.347G>A	1.37:g.153719461G>A	ENSP00000318641:p.Arg116His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	100	34	0.34	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246806	0.95305	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.72235	-0.4352	9	0.59425	D	0.04	.	15.856	0.78977	0.0:0.0:1.0:0.0	.	116	Q68E01-2	.	H	116	.	ENSP00000318641:R116H	R	+	2	0	INTS3	151986085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.867000	0.92314	2.608000	0.88229	0.561000	0.74099	CGT	.	.	none		0.488	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		A	153719461	G	A	153719461	3	1	3	1	0	0	0	0	1	0	0	0	7779	1145	40	1	361	1	INTS3	1	153719461	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	327732	153719461	95531160	35	474										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	54	3	0.0555556		WXS	Illumina HiSeq	Phase_I	52	20	0.384615	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	3	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1122782	154842243	94408378	36	475	12	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	54	2	0.037037		WXS	Illumina HiSeq	Phase_I	52	21	0.403846	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	3	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1	154842244	94408377	37	476	12	2								
THBS3	7059	hgsc.bcm.edu	37	chr1	155172725	155172725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcggaagcagggattggggcTgcagtgggaacgctgctcat	17	8	1	0	rs35154152	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:155172725T>C	ENST00000368378.3	-	8	855	c.835A>G	c.(835-837)Agc>Ggc	p.S279G	THBS3_ENST00000541576.1_5'Flank|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.S159G|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	279			S -> G (in dbSNP:rs35154152).		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)			GGATTGGGGCTGCAGTGGGAA	0.612													T|||	634	0.126597	0.2595	0.0706	5008	,	,		19705	0.0218		0.1272	False		,,,				2504	0.0941				p.S279G		Atlas-SNP	.											.	THBS3	70	.	0			c.A835G						PASS	.	T	GLY/SER	1068,3338	387.7+/-326.6	131,806,1266	43	47	46		835	5.2	1	1	dbSNP_126	46	946,7654	207.5+/-249.2	47,852,3401	yes	missense	THBS3	NM_007112.3	56	178,1658,4667	CC,CT,TT		11.0,24.2397,15.4852	benign	279/957	155172725	2014,10992	2203	4300	6503	SO:0001583	missense	7059	exon8			TGGGGCTGCAGTG	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.835A>G	1.37:g.155172725T>C	ENSP00000357362:p.Ser279Gly	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	74	6	0.0810811	NM_007112	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	265	0.12133699633699634	137	0.2784552845528455	22	0.06077348066298342	14	0.024475524475524476	92	0.12137203166226913	T	13.41	2.228504	0.39399	0.242397	0.11	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;T	0.82255	-1.54;-1.59;1.58	5.24	5.24	0.73138	Epidermal growth factor-like (1);	0.234814	0.48286	D	0.000198	T	0.62208	0.2409	L	0.31476	0.935	0.29923	P	0.822577	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.001	T	0.59899	-0.7367	9	0.31617	T	0.26	-35.8628	13.4093	0.60933	0.0:0.0:0.0:1.0	rs35154152;rs35154152	159;279;279;279	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	G	279;159;129	ENSP00000357362:S279G;ENSP00000392207:S159G;ENSP00000404040:S129G	ENSP00000357362:S279G	S	-	1	0	THBS3	153439349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.777000	0.47717	2.326000	0.78906	0.533000	0.62120	AGC	T|0.857;C|0.143	0.143	strong		0.612	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		C	155172725	T	C	155172725	3	2	3	1	0	0	0	0	1	0	0	0	15852	1580	55	3	2099	3	THBS3	1	155172725	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	330481	155172725	94077896	38	477										
GBA	2629	hgsc.bcm.edu	37	chr1	155207245	155207245	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtcacgggcaatgaagtctcGctgatgttcaggggtgaagc	15	8	3	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:155207245G>A	ENST00000327247.5	-	8	1118	c.886C>T	c.(886-888)Cga>Tga	p.R296*	AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000427500.3_Nonsense_Mutation_p.R247*|GBA_ENST00000368373.3_Nonsense_Mutation_p.R296*|GBA_ENST00000428024.3_Nonsense_Mutation_p.R209*|GBA_ENST00000536770.1_Nonsense_Mutation_p.R183*	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	296			R -> Q (in GD; type 2; also found in a patient with Parkinson disease). {ECO:0000269|PubMed:10796875, ECO:0000269|PubMed:19286695, ECO:0000269|PubMed:8790604}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Velaglucerase alfa(DB06720)	ATGAAGTCTCGCTGATGTTCA	0.557									Gaucher disease type I																												p.R296X		Atlas-SNP	.											GBA,NS,carcinoma,+1,1	GBA	46	1	0			c.C886T	GRCh37	CM980835	GBA	M		PASS	.						94	77	83					1																	155207245		2203	4300	6503	SO:0001587	stop_gained	2629	exon8	Familial Cancer Database	glucocerebrosidase insufficiency	AGTCTCGCTGATG	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.886C>T	1.37:g.155207245G>A	ENSP00000314508:p.Arg296*	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	160	49	0.30625	NM_001005742	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Nonsense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180530	0.57800	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	.	.	.	3.51	1.41	0.22369	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3734	8.0076	0.30334	0.0:0.0:0.5612:0.4388	.	.	.	.	X	247;209;296;296;183;253;281	.	ENSP00000314508:R296X	R	-	1	2	GBA	153473869	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.133000	0.42093	0.216000	0.20781	0.313000	0.20887	CGA	.	.	none		0.557	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		A	155207245	G	A	155207245	4	1	3	1	0	0	0	0	0	1	0	0	6266	1095	38	1	744	1	GBA	1	155207245	Nonsense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	34520	155207245	94043376	39	478										
F5	2153	hgsc.bcm.edu	37	chr1	169551682	169551682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggcttacctgaaatggtagaTtgtggtttttctttcttaaa	9	5	2	2	rs6028	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:169551682T>C	ENST00000367797.3	-	2	438	c.237A>G	c.(235-237)caA>caG	p.Q79Q	F5_ENST00000546081.1_Intron|F5_ENST00000367796.3_Silent_p.Q79Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	79	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Q79Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAATGGTAGATTGTGGTTTTT	0.269													t|||	1134	0.226438	0.028	0.3501	5008	,	,		15692	0.2044		0.2942	False		,,,				2504	0.3599				p.Q79Q		Atlas-SNP	.											F5,NS,carcinoma,0,1	F5	301	1	1	Substitution - coding silent(1)	stomach(1)	c.A237G						scavenged	.	C		311,4043		14,283,1880	32	32	32		237	3.3	0.2	1	dbSNP_52	32	2331,6177		315,1701,2238	no	coding-synonymous	F5	NM_000130.4		329,1984,4118	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	27.3977,7.1429,20.5411		79/2225	169551682	2642,10220	2177	4254	6431	SO:0001819	synonymous_variant	2153	exon2			GGTAGATTGTGGT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.237A>G	1.37:g.169551682T>C		Somatic	575	0	0		WXS	Illumina HiSeq	Phase_I	587	11	0.0187394	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			C|0.214;N|0.000	0.214	strong		0.269	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169551682	T	C	169551682	2	2	3	1	0	0	0	0	0	0	0	1	5348	1490	52	2		2	F5	1	169551682	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	14344437	169551682	79698939	40	479										
FMO1	2326	hgsc.bcm.edu	37	chr1	171252287	171252287	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tattttaatcctacaggtgtAaataagttaccaccaccaag	5	9	0	0	rs1126692	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:171252287A>G	ENST00000354841.4	+	7	1319	c.1188A>G	c.(1186-1188)gtA>gtG	p.V396V	FMO1_ENST00000367750.3_Silent_p.V396V|FMO1_ENST00000402921.2_Silent_p.V333V|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	396					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTACAGGTGTAAATAAGTTAC	0.353													A|||	1255	0.250599	0.593	0.121	5008	,	,		15383	0.0367		0.1412	False		,,,				2504	0.2127				p.V396V		Atlas-SNP	.											FMO1,left_upper_lobe,carcinoma,+2,1	FMO1	79	1	0			c.A1188G						scavenged	.	A		2260,2146	595.1+/-388.4	580,1100,523	119	121	120		1188	-10.3	0	1	dbSNP_86	120	1166,7434	237.5+/-269.3	78,1010,3212	no	coding-synonymous	FMO1	NM_002021.1		658,2110,3735	GG,GA,AA		13.5581,48.7063,26.3417		396/533	171252287	3426,9580	2203	4300	6503	SO:0001819	synonymous_variant	2326	exon8			AGGTGTAAATAAG	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1188A>G	1.37:g.171252287A>G		Somatic	520	1	0.00192308		WXS	Illumina HiSeq	Phase_I	452	6	0.0132743	NM_002021	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	CCDS1294.1																																																																																			A|0.769;C|0.000;G|0.231	0.231	strong		0.353	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		G	171252287	A	G	171252287	2	3	3	1	0	0	0	0	0	0	0	1	5954	349	13	2		2	FMO1	1	171252287	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1700605	171252287	77998334	41	480										
CFHR1	3078	hgsc.bcm.edu	37	chr1	196801042	196801042	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctgaatttgtgtgtaaacgGggatatcgtctttcatcacg	11	7	3	1	rs4230	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:196801042G>T	ENST00000320493.5	+	6	994	c.906G>T	c.(904-906)cgG>cgT	p.R302R	CFHR1_ENST00000367424.4_Silent_p.R243R|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	302	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGTAAACGGGGATATCGTC	0.383													-|||	2541	0.507388	0.6157	0.5187	5008	,	,		12798	0.5437		0.4463	False		,,,				2504	0.3783				p.R302R		Atlas-SNP	.											CFHR1,right_upper_lobe,carcinoma,+1,2	CFHR1	47	2	0			c.G906T						scavenged	.	T		2442,1332		1044,354,489	117	131	127		906	0.1	0	1	dbSNP_36	127	3358,4906		1015,1328,1789	no	coding-synonymous	CFHR1	NM_002113.2		2059,1682,2278	TT,TG,GG		40.6341,35.2941,48.1808		302/331	196801042	5800,6238	1887	4132	6019	SO:0001819	synonymous_variant	3078	exon6			TAAACGGGGATAT	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.906G>T	1.37:g.196801042G>T		Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	309	12	0.038835	NM_002113	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																			G|0.519;T|0.481	0.481	strong		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		T	196801042	G	T	196801042	2	4	3	1	0	0	0	0	0	0	0	1	3284	1219	43	4		4	CFHR1	1	196801042	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	25548755	196801042	52449579	42	481										
CFHR1	3078	hgsc.bcm.edu	37	chr1	196801078	196801078	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcacgttctcacacattgcgAacaacatgttgggatgggaa	10	9	2	0	rs414628	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:196801078A>T	ENST00000320493.5	+	6	1030	c.942A>T	c.(940-942)cgA>cgT	p.R314R	CFHR1_ENST00000367424.4_Silent_p.R255R|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	314	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACACATTGCGAACAACATGTT	0.383													-|||	2122	0.423722	0.326	0.5072	5008	,	,		13037	0.5228		0.4433	False		,,,				2504	0.3742				p.R314R		Atlas-SNP	.											CFHR1,right_upper_lobe,carcinoma,+1,1	CFHR1	47	1	0			c.A942T						scavenged	.	A		1425,2329		530,365,982	77	82	80		942	1.1	0	1	dbSNP_80	80	3341,4909		1008,1325,1792	no	coding-synonymous	CFHR1	NM_002113.2		1538,1690,2774	TT,TA,AA		40.497,37.9595,39.7034		314/331	196801078	4766,7238	1877	4125	6002	SO:0001819	synonymous_variant	3078	exon6			ATTGCGAACAACA	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.942A>T	1.37:g.196801078A>T		Somatic	335	1	0.00298507		WXS	Illumina HiSeq	Phase_I	280	7	0.025	NM_002113	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																			A|0.604;T|0.396	0.396	strong		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		T	196801078	A	T	196801078	2	4	3	1	0	0	0	0	0	0	0	1	3284	233	9	5		5	CFHR1	1	196801078	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	36	196801078	52449543	43	482										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274847	203274847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgagcagaggcttaaggtctTcagcggggcgctccaggagg	17	10	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:203274847T>G	ENST00000290551.4	+	1	184	c.113T>G	c.(112-114)tTc>tGc	p.F38C	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	38					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTTAAGGTCTTCAGCGGGGCG	0.692																																					p.F38C		Atlas-SNP	.											.	BTG2	16	.	0			c.T113G						PASS	.						14	15	15					1																	203274847		2115	4145	6260	SO:0001583	missense	7832	exon1			AGGTCTTCAGCGG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.113T>G	1.37:g.203274847T>G	ENSP00000290551:p.Phe38Cys	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	95	38	0.4	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936706	0.92458	.	.	ENSG00000159388	ENST00000290551	T	0.42513	0.97	4.65	4.65	0.58169	Anti-proliferative protein (3);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81814	-0.0760	10	0.87932	D	0	-41.2615	13.0222	0.58794	0.0:0.0:0.0:1.0	.	38	P78543	BTG2_HUMAN	C	38	ENSP00000290551:F38C	ENSP00000290551:F38C	F	+	2	0	BTG2	201541470	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.827000	0.75303	1.958000	0.56883	0.386000	0.25728	TTC	.	.	none		0.692	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		G	203274847	T	G	203274847	3	3	3	1	0	0	0	0	1	0	0	0	1554	1783	62	5	115	5	BTG2	1	203274847	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	6473769	203274847	45975774	44	483										
C1orf107	27042	hgsc.bcm.edu	37	chr1	210004199	210004199	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcgactcagagagtgaaccaCaacaagtttctggctaccac	9	12	2	2	rs585627	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:210004199C>G	ENST00000491415.2	+	3	256	c.199C>G	c.(199-201)Caa>Gaa	p.Q67E		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	67			Q -> E (in dbSNP:rs585627). {ECO:0000269|PubMed:17974005}.		multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAGTGAACCACAACAAGTTTC	0.373													G|||	2955	0.590056	0.6074	0.5418	5008	,	,		20577	0.3859		0.7286	False		,,,				2504	0.6687				p.Q67E		Atlas-SNP	.											DIEXF,colon,carcinoma,0,1	DIEXF	97	1	0			c.C199G						scavenged	.	G	GLU/GLN	2593,1813	530.6+/-373.0	759,1075,369	75	72	73		199	5	1	1	dbSNP_83	73	6552,2048	357.1+/-330.6	2510,1532,258	yes	missense	DIEXF	NM_014388.6	29	3269,2607,627	GG,GC,CC		23.814,41.1484,29.6863	benign	67/757	210004199	9145,3861	2203	4300	6503	SO:0001583	missense	27042	exon3			GAACCACAACAAG	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.199C>G	1.37:g.210004199C>G	ENSP00000419005:p.Gln67Glu	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	206	5	0.0242718	NM_014388	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	1310	0.5998168498168498	308	0.6260162601626016	220	0.6077348066298343	236	0.4125874125874126	546	0.7203166226912929	G	2.855	-0.237372	0.05944	0.588516	0.76186	ENSG00000117597	ENST00000491415	T	0.37915	1.17	5.02	5.02	0.67125	.	0.047763	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00128	-2.045	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.43940	-0.9360	9	0.02654	T	1	-16.9158	15.9314	0.79663	0.0:0.1355:0.8645:0.0	rs585627;rs3765243;rs52803074;rs585627	67	Q68CQ4	DIEXF_HUMAN	E	67	ENSP00000419005:Q67E	ENSP00000419005:Q67E	Q	+	1	0	DIEXF	208070822	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	5.518000	0.67068	1.248000	0.43934	-0.120000	0.15030	CAA	C|0.331;G|0.669	0.669	strong		0.373	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		G	210004199	C	G	210004199	3	3	3	1	0	0	0	0	1	0	0	0	1981	479	17	4	209	4	C1orf107	1	210004199	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6729352	210004199	39246422	45	484										
KCNH1	3756	hgsc.bcm.edu	37	chr1	211256200	211256200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgctgcaggacacccctgctGcttgtcagtgctcttgtcag	11	13	3	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:211256200G>T	ENST00000271751.4	-	5	507	c.480C>A	c.(478-480)agC>agA	p.S160R	KCNH1_ENST00000367007.4_Missense_Mutation_p.S160R			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	160					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACCCCTGCTGCTTGTCAGTG	0.557																																					p.S160R		Atlas-SNP	.											KCNH1,NS,carcinoma,0,1	KCNH1	199	1	0			c.C480A						PASS	.						95	77	84					1																	211256200		2203	4300	6503	SO:0001583	missense	3756	exon5			CCTGCTGCTTGTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.480C>A	1.37:g.211256200G>T	ENSP00000271751:p.Ser160Arg	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	43	18	0.418605	NM_172362	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228687	0.22542	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98617	-5.01;-5.03	5.1	4.18	0.49190	.	0.075279	0.85682	D	0.000000	D	0.91469	0.7307	N	0.01009	-1.055	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	D	0.88309	0.2955	10	0.02654	T	1	.	14.3963	0.67013	0.0:0.0:0.8514:0.1486	.	160;160	Q14CL3;O95259	.;KCNH1_HUMAN	R	160	ENSP00000271751:S160R;ENSP00000355974:S160R	ENSP00000271751:S160R	S	-	3	2	KCNH1	209322823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.252000	0.72447	1.275000	0.44379	0.655000	0.94253	AGC	.	.	none		0.557	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	211256200	G	T	211256200	3	4	3	1	0	0	0	0	1	0	0	0	8031	1310	46	4	2517	4	KCNH1	1	211256200	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1252001	211256200	37994421	46	485										
ERO1LB	56605	hgsc.bcm.edu	37	chr1	236413230	236413230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtttattagcttgctcacaaTcttctaattctttggtattg	6	7	4	0	rs2477599	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:236413230T>A	ENST00000354619.5	-	5	587	c.386A>T	c.(385-387)gAt>gTt	p.D129V	ERO1LB_ENST00000327333.8_Missense_Mutation_p.D129V	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	129			D -> V (in dbSNP:rs2477599). {ECO:0000269|PubMed:15489334}.		4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TTGCTCACAATCTTCTAATTC	0.279													T|||	1680	0.335463	0.1354	0.3646	5008	,	,		15154	0.1329		0.6014	False		,,,				2504	0.5204				p.D129V		Atlas-SNP	.											.	ERO1LB	48	.	0			c.A386T						PASS	.	T	VAL/ASP	858,3546	337.6+/-304.9	86,686,1430	146	130	136		386	4.7	0.8	1	dbSNP_100	136	5117,3469	632.1+/-398.6	1514,2089,690	yes	missense	ERO1LB	NM_019891.3	152	1600,2775,2120	AA,AT,TT		40.403,19.4823,45.9969	benign	129/468	236413230	5975,7015	2202	4293	6495	SO:0001583	missense	56605	exon5			TCACAATCTTCTA	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.386A>T	1.37:g.236413230T>A	ENSP00000346635:p.Asp129Val	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	145	6	0.0413793	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	754	0.34523809523809523	75	0.1524390243902439	131	0.36187845303867405	75	0.13111888111888112	473	0.6240105540897097	T	16.85	3.236060	0.58886	0.194823	0.59597	ENSG00000086619	ENST00000354619;ENST00000327333;ENST00000366589	D;T;D	0.82255	-1.59;0.88;-1.59	5.85	4.72	0.59763	.	0.217492	0.49916	D	0.000135	T	0.00012	0.0000	L	0.50333	1.59	0.09310	P	0.99999810693	P;B	0.49185	0.92;0.1	P;B	0.45712	0.491;0.042	T	0.49844	-0.8896	9	0.56958	D	0.05	-17.6697	11.2036	0.48756	0.0:0.0:0.2933:0.7067	rs2477599;rs17853094;rs17854313;rs2477599	129;129	B4DF57;Q86YB8	.;ERO1B_HUMAN	V	129;129;10	ENSP00000346635:D129V;ENSP00000377574:D129V;ENSP00000355548:D10V	ENSP00000377574:D129V	D	-	2	0	ERO1LB	234479853	1.000000	0.71417	0.809000	0.32408	0.980000	0.70556	4.282000	0.58971	1.025000	0.39708	-0.475000	0.04921	GAT	T|0.570;A|0.430	0.430	strong		0.279	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		A	236413230	T	A	236413230	3	1	3	1	0	0	0	0	1	0	0	0	5240	1435	50	5	1065	5	ERO1LB	1	236413230	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	25157030	236413230	12837391	47	486										
KMO	23596	hgsc.bcm.edu	37	chr1	241755414	241755414	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catgtttccccgcaaaggccGtggactccctagaacaaatt	8	13	0	1	rs55662927	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:241755414G>A	ENST00000366554.2	-	0	2620				KMO_ENST00000366559.4_Missense_Mutation_p.V474M|KMO_ENST00000366558.3_Missense_Mutation_p.V461M|KMO_ENST00000366557.4_Missense_Mutation_p.V440M|OPN3_ENST00000469376.1_5'Flank	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGCAAAGGCCGTGGACTCCCT	0.428													A|||	5	0.000998403	0.0	0.0058	5008	,	,		20044	0.0		0.001	False		,,,				2504	0.0				p.V474M		Atlas-SNP	.											.	KMO	69	.	0			c.G1420A						PASS	.	A	MET/VAL	2,4404	826.0+/-416.6	0,2,2201	92	80	84		1420	0.4	0	1	dbSNP_129	84	31,8569	817.9+/-406.9	0,31,4269	yes	missense	KMO	NM_003679.3	21	0,33,6470	AA,AG,GG		0.3605,0.0454,0.2537	benign	474/487	241755414	33,12973	2203	4300	6503	SO:0001628	intergenic_variant	8564	exon15			AAGGCCGTGGACT	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755414G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_003679	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	A|A	8.760|8.760	0.923377|0.923377	0.18056|0.18056	4.54E-4|4.54E-4	0.003605|0.003605	ENSG00000117009|ENSG00000117009	ENST00000366555|ENST00000366559;ENST00000366558;ENST00000366557	.|T;T;T	.|0.46819	.|0.86;0.86;0.89	5.29|5.29	0.358|0.358	0.16084|0.16084	.|.	.|1.291470	.|0.04766	.|N	.|0.427200	T|T	0.13841|0.13841	0.0335|0.0335	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.08534|0.08534	-1.0717|-1.0717	5|10	.|0.28530	.|T	.|0.3	.|.	1.5986|1.5986	0.02669|0.02669	0.3891:0.2759:0.0789:0.2561|0.3891:0.2759:0.0789:0.2561	rs55662927|rs55662927	.|474	.|O15229	.|KMO_HUMAN	H|M	159|474;461;440	.|ENSP00000355517:V474M;ENSP00000355516:V461M;ENSP00000355515:V440M	.|ENSP00000355515:V440M	R|V	+|+	2|1	0|0	KMO|KMO	239822037|239822037	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	-0.164000|-0.164000	0.09983|0.09983	-0.351000|-0.351000	0.08249|0.08249	-0.269000|-0.269000	0.10298|0.10298	CGT|GTG	G|0.998;A|0.002	0.002	strong		0.428	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		A	241755414	G	A	241755414	1	1	3	0	1	0	0	0	0	0	0	0	8424	1145	40	1		1	KMO	1	241755414	IGR	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5342184	241755414	7495207	48	487										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247021085	247021085	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aatgcctctgctgcaactaaGagatcctttgtttctgcatc	7	11	2	1	rs41308162	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:247021085G>C	ENST00000391829.2	-	30	4287	c.4164C>G	c.(4162-4164)ctC>ctG	p.L1388L	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.L1423L|AHCTF1_ENST00000326225.3_Silent_p.L1397L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1388	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCAACTAAGAGATCCTTTG	0.343													G|||	913	0.182308	0.4728	0.0821	5008	,	,		17161	0.0079		0.0875	False		,,,				2504	0.138				p.L1397L	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											AHCTF1,NS,carcinoma,0,1	AHCTF1	187	1	0			c.C4191G						scavenged	.	G		1838,2568	522.5+/-370.8	388,1062,753	61	62	62		4191	2.3	0	1	dbSNP_127	62	738,7862	178.5+/-227.8	32,674,3594	no	coding-synonymous	AHCTF1	NM_015446.4		420,1736,4347	CC,CG,GG		8.5814,41.7158,19.8062		1397/2276	247021085	2576,10430	2203	4300	6503	SO:0001819	synonymous_variant	25909	exon30			AACTAAGAGATCC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4164C>G	1.37:g.247021085G>C		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	263	6	0.0228137	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																				G|0.826;C|0.174	0.174	strong		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		C	247021085	G	C	247021085	2	2	3	1	0	0	0	0	0	0	0	1	408	929	33	4		4	AHCTF1	1	247021085	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5265671	247021085	2229536	49	488										
OR11L1	391189	hgsc.bcm.edu	37	chr1	248004296	248004296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttccttctcatgacctttctAacagcttctttgaagtcttt	4	11	4	2	rs6681483	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:248004296A>G	ENST00000355784.2	-	1	958	c.903T>C	c.(901-903)gtT>gtC	p.V301V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	301						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGACCTTTCTAACAGCTTCTT	0.383													A|||	746	0.148962	0.3616	0.1282	5008	,	,		22844	0.004		0.1014	False		,,,				2504	0.0746				p.V301V		Atlas-SNP	.											OR11L1,right_lower_lobe,carcinoma,-2,1	OR11L1	108	1	0			c.T903C						scavenged	.	A		1483,2923	476.3+/-357.6	239,1005,959	91	86	88		903	0.1	0.4	1	dbSNP_116	88	1023,7577	219.2+/-257.4	61,901,3338	no	coding-synonymous	OR11L1	NM_001001959.1		300,1906,4297	GG,GA,AA		11.8953,33.6586,19.268		301/323	248004296	2506,10500	2203	4300	6503	SO:0001819	synonymous_variant	391189	exon1			CTTTCTAACAGCT	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.903T>C	1.37:g.248004296A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_001001959		Silent	SNP	ENST00000355784.2	37	CCDS31098.1																																																																																			A|0.825;G|0.175	0.175	strong		0.383	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		G	248004296	A	G	248004296	2	3	3	1	0	0	0	0	0	0	0	1	10930	349	13	2		2	OR11L1	1	248004296	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	983211	248004296	1246325	50	489										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224294	248224294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gattcagagtttcttcttctCggcattaggaggtgcagaag	12	7	4	2	rs6658256	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:248224294C>T	ENST00000359959.3	+	1	311	c.311C>T	c.(310-312)tCg>tTg	p.S104L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	104			S -> L (in dbSNP:rs6658256).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTTCTTCTCGGCATTAGGA	0.433													t|||	1555	0.310503	0.7398	0.1326	5008	,	,		23310	0.254		0.1481	False		,,,				2504	0.0818				p.S104L		Atlas-SNP	.											.	OR2L3	97	.	0			c.C311T						PASS	.	T	LEU/SER,	2644,1762		888,868,447	195	238	224		311,	-2.4	0	1	dbSNP_116	224	970,7630		91,788,3421	no	missense,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	145,	979,1656,3868	TT,TC,CC		11.2791,39.9909,27.7872	benign,	104/313,	248224294	3614,9392	2203	4300	6503	SO:0001583	missense	391192	exon1			TCTTCTCGGCATT	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.311C>T	1.37:g.248224294C>T	ENSP00000353044:p.Ser104Leu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	574	0.26282051282051283	291	0.5914634146341463	42	0.11602209944751381	152	0.26573426573426573	89	0.11741424802110818	.	0.006	-2.115650	0.00349	0.600091	0.112791	ENSG00000198128	ENST00000359959	T	0.01335	5.0	1.91	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26642	N	0.023253	T	0.00012	0.0000	N	0.00278	-1.715	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.11470	-1.0586	9	0.02654	T	1	.	5.0096	0.14306	0.0:0.235:0.1594:0.6056	rs6658256;rs6658256	104	Q8NG85	OR2L3_HUMAN	L	104	ENSP00000353044:S104L	ENSP00000353044:S104L	S	+	2	0	OR2L3	246290917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.918000	0.04021	-0.429000	0.07329	-1.562000	0.00884	TCG	C|0.712;T|0.288	0.288	strong		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224294	C	T	248224294	3	4	3	1	0	0	0	0	1	0	0	0	11008	893	31	1	313	1	OR2L3	1	248224294	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	219998	248224294	1026327	51	490										
OR14C36	127066	hgsc.bcm.edu	37	chr1	248512749	248512749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acatcttttcgaccgtgctcGggtttccaagaggagcagac	11	11	1	2	rs28377739	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr1:248512749G>A	ENST00000317861.1	+	1	673	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	225			G -> R (in dbSNP:rs28377739).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACCGTGCTCGGGTTTCCAAG	0.498													a|||	2306	0.460463	0.3601	0.4885	5008	,	,		19309	0.4315		0.5239	False		,,,				2504	0.5409				p.G225R		Atlas-SNP	.											OR14C36,NS,adenoma,0,1	OR14C36	113	1	0			c.G673A						PASS	.	A	ARG/GLY	1764,2642	643.9+/-397.9	352,1060,791	191	146	161		673	1.2	0	1	dbSNP_125	161	4894,3706	530.1+/-381.7	1390,2114,796	yes	missense	OR14C36	NM_001001918.1	125	1742,3174,1587	AA,AG,GG		43.093,40.0363,48.8082	benign	225/313	248512749	6658,6348	2203	4300	6503	SO:0001583	missense	127066	exon1			GTGCTCGGGTTTC	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.673G>A	1.37:g.248512749G>A	ENSP00000324534:p.Gly225Arg	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	99	4	0.040404	NM_001001918	Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	CCDS31112.1	1006	0.4606227106227106	169	0.3434959349593496	179	0.494475138121547	253	0.4423076923076923	405	0.5343007915567283	A	0.005	-2.203520	0.00296	0.400363	0.56907	ENSG00000177174	ENST00000317861	T	0.00019	9.06	3.91	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.422559	0.19555	N	0.111462	T	0.00012	0.0000	N	0.00227	-1.8	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	.	6.3589	0.21417	0.6176:0.2982:0.0841:0.0	rs28377739	225	Q8NHC7	O14CZ_HUMAN	R	225	ENSP00000324534:G225R	ENSP00000324534:G225R	G	+	1	0	OR14C36	246579372	0.000000	0.05858	0.035000	0.18076	0.144000	0.21451	0.145000	0.16157	0.101000	0.17610	-1.086000	0.02197	GGG	G|0.502;A|0.498	0.498	strong		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		A	248512749	G	A	248512749	3	1	3	1	0	0	0	0	1	0	0	0	10946	1116	39	1	675	1	OR14C36	1	248512749	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	288455	248512749	737872	52	491										
TPO	7173	hgsc.bcm.edu	37	chr2	1459995	1459995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcaccagcaaagctgccttcGggggaggggctgactgccag	16	12	0	1	rs371917329		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:1459995G>A	ENST00000345913.4	+	7	851	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	TPO_ENST00000337415.3_Missense_Mutation_p.G254R|TPO_ENST00000382198.1_Missense_Mutation_p.G254R|TPO_ENST00000382201.3_Missense_Mutation_p.G254R|TPO_ENST00000346956.3_Missense_Mutation_p.G254R|TPO_ENST00000329066.4_Missense_Mutation_p.G254R|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G254R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	254					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGCTGCCTTCGGGGGAGGGGC	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21539	0.0		0.0	False		,,,				2504	0.0				p.G254R		Atlas-SNP	.											TPO,NS,carcinoma,-2,1	TPO	224	1	0			c.G760A						PASS	.	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	80	71	74		760,760,760,760,760,760	-8.7	0	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	125,125,125,125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	254/934,254/934,254/877,254/877,254/890,254/761	1459995	1,13005	2203	4300	6503	SO:0001583	missense	7173	exon7			GCCTTCGGGGGAG		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.760G>A	2.37:g.1459995G>A	ENSP00000318820:p.Gly254Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	96	36	0.375	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202813	0.01581	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.68025	-0.26;-0.27;-0.23;0.0;-0.27;-0.2;0.0;-0.3	4.81	-8.66	0.00866	.	1.631860	0.02746	N	0.116912	T	0.40473	0.1118	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.19073	0.011;0.008;0.027;0.033	B;B;B;B	0.14578	0.006;0.002;0.006;0.011	T	0.26950	-1.0088	10	0.15952	T	0.53	-0.1794	0.5679	0.00690	0.2306:0.1941:0.2969:0.2783	.	254;254;254;254	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	R	254;254;254;254;254;254;254;183	ENSP00000337263:G254R;ENSP00000318820:G254R;ENSP00000263886:G254R;ENSP00000332044:G254R;ENSP00000329869:G254R;ENSP00000371636:G254R;ENSP00000371633:G254R;ENSP00000405788:G183R	ENSP00000329869:G254R	G	+	1	0	TPO	1439002	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.061000	0.03472	-1.603000	0.01597	-1.571000	0.00872	GGG	.	.	weak		0.473	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1459995	G	A	1459995	3	1	3	1	0	0	0	0	1	0	0	0	16407	1116	39	1	782	1	TPO	2	1459995	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		1459995	241739378	53	492										
RNF144A	9781	hgsc.bcm.edu	37	chr2	7164578	7164578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtctacatcgagcgagacgaAggctgcgcgcagatgatgtg	15	9	1	3	rs376219	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:7164578A>G	ENST00000320892.6	+	7	1030	c.588A>G	c.(586-588)gaA>gaG	p.E196E	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	196					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AGCGAGACGAAGGCTGCGCGC	0.572													A|||	1324	0.264377	0.1097	0.3905	5008	,	,		19524	0.1696		0.3459	False		,,,				2504	0.3978				p.E196E		Atlas-SNP	.											.	RNF144A	38	.	0			c.A588G						PASS	.	A		675,3731	283.1+/-276.9	58,559,1586	109	92	98		588	0.5	1	2	dbSNP_80	98	3261,5339	487.7+/-372.2	628,2005,1667	no	coding-synonymous	RNF144A	NM_014746.3		686,2564,3253	GG,GA,AA		37.9186,15.32,30.263		196/293	7164578	3936,9070	2203	4300	6503	SO:0001819	synonymous_variant	9781	exon7			AGACGAAGGCTGC	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.588A>G	2.37:g.7164578A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	55	4	0.0727273	NM_014746	D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	CCDS1657.1	536	0.2454212454212454	42	0.08536585365853659	132	0.36464088397790057	98	0.17132867132867133	264	0.3482849604221636	A	1.539	-0.542170	0.04053	0.1532	0.379186	ENSG00000151692	ENST00000432850	.	.	.	5.87	0.485	0.16830	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.39881	-0.9592	3	.	.	.	.	10.6812	0.45815	0.5408:0.0:0.4592:0.0	rs376219;rs17661911;rs376219	.	.	.	R	192	.	.	K	+	2	0	RNF144A	7082029	0.983000	0.35010	0.985000	0.45067	0.056000	0.15407	0.309000	0.19332	-0.138000	0.11434	-0.256000	0.11100	AAG	A|0.727;G|0.273	0.273	strong		0.572	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		G	7164578	A	G	7164578	2	3	3	1	0	0	0	0	0	0	0	1	13445	69	3	3		3	RNF144A	2	7164578	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	5704583	7164578	236034795	54	493										
APOB	338	hgsc.bcm.edu	37	chr2	21232804	21232804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtttgacatgctcaagaatGtcatttattctttcaaatga	6	6	4	3	rs386643884|rs1041968	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:21232804G>A	ENST00000233242.1	-	26	7063	c.6936C>T	c.(6934-6936)gaC>gaT	p.D2312D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2312					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCAAGAATGTCATTTATTC	0.348													G|||	1248	0.249201	0.2095	0.3775	5008	,	,		20035	0.0615		0.4423	False		,,,				2504	0.2065				p.D2312D		Atlas-SNP	.											APOB,NS,malignant_melanoma,-2,1	APOB	761	1	0			c.C6936T						scavenged	.	G		1032,3374		139,754,1310	116	119	118		6936	-2.2	0	2	dbSNP_86	118	4118,4482		1092,1934,1274	no	coding-synonymous	APOB	NM_000384.2		1231,2688,2584	AA,AG,GG		47.8837,23.4226,39.5971		2312/4564	21232804	5150,7856	2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			AAGAATGTCATTT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6936C>T	2.37:g.21232804G>A		Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	170	14	0.0823529	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			G|0.640;A|0.360	0.360	strong		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21232804	G	A	21232804	2	1	3	1	0	0	0	0	0	0	0	1	785	1368	48	2		2	APOB	2	21232804	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	14068226	21232804	221966569	55	494										
ITSN2	50618	hgsc.bcm.edu	37	chr2	24432839	24432839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gttgctcttggtcttgtataAtttcccactgtgtaagagct	9	8	2	1	rs2303296	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:24432839A>G	ENST00000355123.4	-	35	4764	c.4321T>C	c.(4321-4323)Tta>Cta	p.L1441L	ITSN2_ENST00000361999.3_Silent_p.L1414L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1441	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGTATAATTTCCCACTG	0.443													A|||	707	0.141174	0.0197	0.1354	5008	,	,		19423	0.124		0.2634	False		,,,				2504	0.2014				p.L1441L		Atlas-SNP	.											.	ITSN2	224	.	0			c.T4321C						PASS	.	A	,	267,4139	149.2+/-183.4	9,249,1945	169	160	163		4321,4240	-5.1	0	2	dbSNP_100	163	2131,6469	367.2+/-334.6	264,1603,2433	no	coding-synonymous,coding-synonymous	ITSN2	NM_006277.2,NM_019595.3	,	273,1852,4378	GG,GA,AA		24.7791,6.0599,18.4376	,	1441/1698,1414/1671	24432839	2398,10608	2203	4300	6503	SO:0001819	synonymous_variant	50618	exon35			TGTATAATTTCCC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4321T>C	2.37:g.24432839A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	85	7	0.0823529	NM_006277	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																			A|0.824;G|0.176	0.176	strong		0.443	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24432839	A	G	24432839	2	3	3	1	0	0	0	0	0	0	0	1	7927	98	4	2		2	ITSN2	2	24432839	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3200035	24432839	218766534	56	495										
ITSN2	50618	hgsc.bcm.edu	37	chr2	24507652	24507652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttaagtaagaggaagaggtTgttgagacagcttagcagag	14	4	0	4			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:24507652T>C	ENST00000355123.4	-	17	2367	c.1924A>G	c.(1924-1926)Aac>Gac	p.N642D	ITSN2_ENST00000406921.3_Missense_Mutation_p.N642D|ITSN2_ENST00000361999.3_Intron	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	642					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.N641Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGAGGTTGTTGAGACAG	0.338																																					p.N642D		Atlas-SNP	.											ITSN2,NS,carcinoma,0,1	ITSN2	224	1	1	Substitution - Missense(1)	lung(1)	c.A1924G						scavenged	.						118	120	120					2																	24507652		2203	4300	6503	SO:0001583	missense	50618	exon17			AGAGGTTGTTGAG	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1924A>G	2.37:g.24507652T>C	ENSP00000347244:p.Asn642Asp	Somatic	465	0	0		WXS	Illumina HiSeq	Phase_I	504	8	0.015873	NM_147152	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523765	0.44866	.	.	ENSG00000198399	ENST00000355123;ENST00000406921	T;T	0.58358	0.34;0.74	5.55	1.39	0.22231	.	0.000000	0.33875	U	0.004479	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	B;B	0.32467	0.372;0.118	B;B	0.32805	0.153;0.037	T	0.10019	-1.0648	10	0.35671	T	0.21	.	13.3849	0.60791	0.0:0.0:0.3667:0.6333	.	642;642	Q9NZM3-3;Q9NZM3	.;ITSN2_HUMAN	D	642	ENSP00000347244:N642D;ENSP00000384499:N642D	ENSP00000347244:N642D	N	-	1	0	ITSN2	24361156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	0.424000	0.26061	0.533000	0.62120	AAC	.	.	none		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24507652	T	C	24507652	3	2	3	1	0	0	0	0	1	0	0	0	7927	1812	63	2	3316	2	ITSN2	2	24507652	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	74813	24507652	218691721	57	496										
HADHB	3032	hgsc.bcm.edu	37	chr2	26477125	26477126	+	Start_Codon_Ins	INS	-	-	ACT													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tctttttagattccagaatgINSactatcttgacttacccctt					rs3839049|rs67852333|rs59947000|rs147970487|rs587776502	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:26477125_26477126insACT	ENST00000317799.5	+	0	107_108				HADHB_ENST00000537713.1_Start_Codon_Ins|HADHB_ENST00000405867.3_Start_Codon_Ins|HADHB_ENST00000545822.1_5'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCAGAATGACTATCTTGAC	0.312														3553	0.709465	0.8767	0.6844	5008	,	,		14729	0.1796		0.9215	False		,,,				2504	0.8292				p.M1delinsMT		Pindel	.											HADHB,colon,carcinoma,0,1	HADHB	50	1	0			c.3_4insACT						PASS	.			3760,506		1661,438,34						5.3	1		dbSNP_130	69	7667,581		3571,525,28	no	coding	HADHB	NM_000183.2		5232,963,62	A1A1,A1R,RR		7.0441,11.8612,8.6863				11427,1087				SO:0001582	initiator_codon_variant	3032	exon2			.		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.4_6dupACT	2.37:g.26477126_26477128dupACT		Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	In_Frame_Ins	INS	ENST00000317799.5	37	CCDS1722.1																																																																																			.	.	strong		0.312	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		ACT	26477126	-	ACT	26477125	7	5	3	1	0	1	1	0	0	0	0	0	6944	1290	45	0	5	0	HADHB	2	26477125	Start_Codon_Ins	INS	-	TCGA-FA-A4XK-01A-11D-A31X-10	1969473	26477125	216722248	58	497										
WDR43	23160	hgsc.bcm.edu	37	chr2	29152456	29152456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gttctgtaggttagcattgaAgaacgtctgggagcaatgga	14	5	2	2	rs1140697	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:29152456A>G	ENST00000407426.3	+	11	1373	c.1317A>G	c.(1315-1317)gaA>gaG	p.E439E	SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	439						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTAGCATTGAAGAACGTCTGG	0.348													A|||	2092	0.417732	0.3601	0.4265	5008	,	,		16718	0.0704		0.6889	False		,,,				2504	0.5685				p.E439E		Atlas-SNP	.											WDR43,NS,carcinoma,+2,1	WDR43	38	1	0			c.A1317G						scavenged	.	A		1579,2091		342,895,598	83	80	81		1317	3.5	1	2	dbSNP_86	81	5890,2302		2106,1678,312	no	coding-synonymous	WDR43	NM_015131.1		2448,2573,910	GG,GA,AA		28.1006,43.0245,37.0342		439/678	29152456	7469,4393	1835	4096	5931	SO:0001819	synonymous_variant	23160	exon11			CATTGAAGAACGT	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1317A>G	2.37:g.29152456A>G		Somatic	283	1	0.00353357		WXS	Illumina HiSeq	Phase_I	318	12	0.0377358	NM_015131	Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	CCDS46251.1																																																																																			A|0.564;G|0.436	0.436	strong		0.348	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		G	29152456	A	G	29152456	2	3	3	1	0	0	0	0	0	0	0	1	17292	69	3	3		3	WDR43	2	29152456	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2675331	29152456	214046917	59	498										
C2orf71	388939	hgsc.bcm.edu	37	chr2	29296870	29296870	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atcagtccttccatatctttCcttttgcctgaagcaggatc	6	12	2	1	rs62132765	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:29296870C>T	ENST00000331664.5	-	1	257	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	86					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCATATCTTTCCTTTTGCCTG	0.512													C|||	557	0.111222	0.0129	0.1527	5008	,	,		20671	0.123		0.2137	False		,,,				2504	0.0971				p.R86R		Atlas-SNP	.											C2orf71,rectum,carcinoma,-1,1	C2orf71	146	1	0			c.G258A						scavenged	.	C		189,3673		4,181,1746	213	196	202		258	1.3	0	2	dbSNP_129	202	1854,6434		192,1470,2482	no	coding-synonymous	C2orf71	NM_001029883.1		196,1651,4228	TT,TC,CC		22.3697,4.8938,16.8148		86/1289	29296870	2043,10107	1931	4144	6075	SO:0001819	synonymous_variant	388939	exon1			ATCTTTCCTTTTG		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.258G>A	2.37:g.29296870C>T		Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	183	5	0.0273224	NM_001029883		Silent	SNP	ENST00000331664.5	37	CCDS42669.1																																																																																			C|0.825;T|0.175	0.175	strong		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		T	29296870	C	T	29296870	2	4	3	1	0	0	0	0	0	0	0	1	2191	854	30	2		2	C2orf71	2	29296870	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	144414	29296870	213902503	60	499										
PLEK	5341	hgsc.bcm.edu	37	chr2	68592512	68592512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaagcggatcagagagggctAccttgtgaagaaggtgagcg	16	6	1	4			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:68592512A>T	ENST00000234313.7	+	1	208	c.29A>T	c.(28-30)tAc>tTc	p.Y10F	AC015969.3_ENST00000366218.2_RNA	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	10	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGAGAGGGCTACCTTGTGAAG	0.577																																					p.Y10F		Atlas-SNP	.											.	PLEK	64	.	0			c.A29T						PASS	.						136	114	122					2																	68592512		2203	4300	6503	SO:0001583	missense	5341	exon1			AGGGCTACCTTGT	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.29A>T	2.37:g.68592512A>T	ENSP00000234313:p.Tyr10Phe	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	91	25	0.274725	NM_002664	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454506	0.26161	.	.	ENSG00000115956	ENST00000234313	T	0.14640	2.49	5.85	5.85	0.93711	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.003	T	0.08046	-1.0741	10	0.19590	T	0.45	.	12.6189	0.56592	1.0:0.0:0.0:0.0	.	28;10	Q59GZ2;P08567	.;PLEK_HUMAN	F	10	ENSP00000234313:Y10F	ENSP00000234313:Y10F	Y	+	2	0	PLEK	68446016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.687000	0.61708	2.234000	0.73211	0.460000	0.39030	TAC	.	.	none		0.577	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		T	68592512	A	T	68592512	3	4	3	1	0	0	0	0	1	0	0	0	12053	391	14	5	31	5	PLEK	2	68592512	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	39295642	68592512	174606861	61	500										
MAT2A	4144	hgsc.bcm.edu	37	chr2	85769711	85769711	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatgctggtttgactggacgCaaaatcattgtggacactta	11	7	1	1	rs1078004	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:85769711C>G	ENST00000306434.3	+	7	915	c.792C>G	c.(790-792)cgC>cgG	p.R264R	MAT2A_ENST00000409017.1_Silent_p.R201R	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	264					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R264R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGACTGGACGCAAAATCATTG	0.453													G|||	2468	0.492812	0.7194	0.3934	5008	,	,		20209	0.3859		0.494	False		,,,				2504	0.3661				p.R264R		Atlas-SNP	.											MAT2A,NS,carcinoma,0,1	MAT2A	23	1	1	Substitution - coding silent(1)	stomach(1)	c.C792G						scavenged	.	G		2978,1428	464.2+/-353.8	1016,946,241	132	141	138		792	2.8	1	2	dbSNP_86	138	3955,4645	602.6+/-394.5	911,2133,1256	yes	coding-synonymous	MAT2A	NM_005911.5		1927,3079,1497	GG,GC,CC		45.9884,32.4103,46.6938		264/396	85769711	6933,6073	2203	4300	6503	SO:0001819	synonymous_variant	4144	exon7			TGGACGCAAAATC		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.792C>G	2.37:g.85769711C>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	161	5	0.0310559	NM_005911	A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																			C|0.483;G|0.517	0.517	strong		0.453	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		G	85769711	C	G	85769711	2	3	3	1	0	0	0	0	0	0	0	1	9330	697	25	4		4	MAT2A	2	85769711	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	17177199	85769711	157429662	62	501										
MRPL35	51318	hgsc.bcm.edu	37	chr2	86433240	86433240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tctttacaggaatcctacggCccctgaatattttggcatct	7	11	2	1	rs10901	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:86433240C>T	ENST00000337109.4	+	2	89	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	MRPL35_ENST00000409180.1_Missense_Mutation_p.P19S|MRPL35_ENST00000605125.1_Missense_Mutation_p.P19S|MRPL35_ENST00000254644.8_Missense_Mutation_p.P19S	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	19			P -> S (in dbSNP:rs12714176). {ECO:0000269|PubMed:15489334}.		translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.P19S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AATCCTACGGCCCCTGAATAT	0.378													C|||	1225	0.244609	0.0552	0.2781	5008	,	,		17596	0.121		0.4751	False		,,,				2504	0.3671				p.P19S		Atlas-SNP	.											MRPL35,NS,adenoma,0,2	MRPL35	23	2	1	Substitution - Missense(1)	stomach(1)	c.C55T						scavenged	.	C	SER/PRO,SER/PRO	497,3909	231.0+/-245.0	30,437,1736	141	139	140		55,55	4.7	1	2	dbSNP_52	140	4343,4257	580.4+/-391.0	1090,2163,1047	yes	missense,missense	MRPL35	NM_016622.3,NM_145644.2	74,74	1120,2600,2783	TT,TC,CC		49.5,11.2801,37.2136	probably-damaging,probably-damaging	19/189,19/171	86433240	4840,8166	2203	4300	6503	SO:0001583	missense	51318	exon2			CTACGGCCCCTGA	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.55C>T	2.37:g.86433240C>T	ENSP00000338389:p.Pro19Ser	Somatic	352	2	0.00568182		WXS	Illumina HiSeq	Phase_I	414	8	0.0193237	NM_016622	A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	CCDS1988.1	571	0.26144688644688646	30	0.06097560975609756	121	0.3342541436464088	69	0.12062937062937062	351	0.4630606860158311	C	15.36	2.809597	0.50421	0.112801	0.505	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.18174	2.24;2.65;2.23	5.62	4.74	0.60224	.	0.096882	0.64402	N	0.000001	T	0.00012	0.0000	M	0.75264	2.295	0.27111	P	0.9623878	B	0.27882	0.192	B	0.21151	0.033	T	0.43081	-0.9413	9	0.26408	T	0.33	-10.0043	10.6449	0.45615	0.0:0.912:0.0:0.088	rs12714176;rs17845611;rs17858541;rs52836017;rs57050204;rs12714176	19	Q9NZE8	RM35_HUMAN	S	19	ENSP00000254644:P19S;ENSP00000338389:P19S;ENSP00000386255:P19S	ENSP00000254644:P19S	P	+	1	0	MRPL35	86286751	0.330000	0.24705	0.987000	0.45799	0.922000	0.55478	2.399000	0.44495	1.527000	0.49086	0.650000	0.86243	CCC	T|0.269;G|0.143	0.269	strong		0.378	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		T	86433240	C	T	86433240	3	4	3	1	0	0	0	0	1	0	0	0	9798	739	26	2	61	2	MRPL35	2	86433240	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	663529	86433240	156766133	63	502										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88387391	88387391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttcccacaggctggcggcgCgcatcatgtggcgggtggag	17	12	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:88387391C>T	ENST00000419482.2	+	3	410	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	SMYD1_ENST00000444564.2_Missense_Mutation_p.R109C|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	109	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GCTGGCGGCGCGCATCATGTG	0.607																																					p.R109C		Atlas-SNP	.											.	SMYD1	95	.	0			c.C325T						PASS	.						28	25	26					2																	88387391		2197	4297	6494	SO:0001583	missense	150572	exon3			GCGGCGCGCATCA	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.325C>T	2.37:g.88387391C>T	ENSP00000393453:p.Arg109Cys	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	142	48	0.338028	NM_198274	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737350	0.69304	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.36520	1.25;1.27	4.82	3.88	0.44766	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64007	-0.6508	10	0.87932	D	0	-22.6609	12.1981	0.54309	0.284:0.716:0.0:0.0	.	109	Q8NB12	SMYD1_HUMAN	C	109	ENSP00000393453:R109C;ENSP00000407888:R109C	ENSP00000393453:R109C	R	+	1	0	SMYD1	88168506	0.988000	0.35896	0.938000	0.37757	0.765000	0.43378	2.757000	0.47557	2.363000	0.80096	0.561000	0.74099	CGC	.	.	none		0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		T	88387391	C	T	88387391	3	4	3	1	0	0	0	0	1	0	0	0	14821	768	27	1	335	1	SMYD1	2	88387391	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1954151	88387391	154811982	64	503										
STARD7	56910	hgsc.bcm.edu	37	chr2	96861159	96861159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tatccatcaccatttcccaaCgttgctctttgccctctgaa	4	15	3	1	rs2276650	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:96861159C>G	ENST00000337288.5	-	2	802	c.419G>C	c.(418-420)cGt>cCt	p.R140P	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	140	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.		R -> P (in dbSNP:rs2276650). {ECO:0000269|PubMed:15489334}.			mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.R65P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CATTTCCCAACGTTGCTCTTT	0.498													N|||	660	0.131789	0.0454	0.134	5008	,	,		19125	0.124		0.17	False		,,,				2504	0.2157				p.R140P		Atlas-SNP	.											STARD7,NS,carcinoma,0,1	STARD7	49	1	1	Substitution - Missense(1)	stomach(1)	c.G419C						scavenged	.	G	PRO/ARG	294,4112	797.8+/-415.4	10,274,1919	151	116	128		419	4.7	0	2	dbSNP_100	128	1418,7182	746.9+/-407.3	122,1174,3004	yes	missense	STARD7	NM_020151.3	103	132,1448,4923	GG,GC,CC		16.4884,6.6727,13.1632	benign	140/371	96861159	1712,11294	2203	4300	6503	SO:0001583	missense	56910	exon2			TCCCAACGTTGCT	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.419G>C	2.37:g.96861159C>G	ENSP00000338030:p.Arg140Pro	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	129	5	0.0387597	NM_020151	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	266	0.12179487179487179	21	0.042682926829268296	46	0.1270718232044199	66	0.11538461538461539	133	0.17546174142480211	G	0.772	-0.765499	0.02996	0.066727	0.164884	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.03094	4.05;4.05	5.62	4.73	0.59995	Lipid-binding START (3);START-like domain (1);	0.264075	0.36972	N	0.002307	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.17832	T	0.49	-4.41	9.4979	0.38999	0.0:0.2954:0.5518:0.1529	rs2276650;rs17419527;rs17845138;rs17856446;rs17857941;rs17858069;rs52838299;rs2276650	140	Q9NQZ5	STAR7_HUMAN	P	140;39	ENSP00000338030:R140P;ENSP00000409410:R39P	ENSP00000338030:R140P	R	-	2	0	STARD7	96224886	0.927000	0.31430	0.014000	0.15608	0.676000	0.39594	2.586000	0.46119	0.708000	0.31955	-0.120000	0.15030	CGT	C|0.878;G|0.122	0.122	strong		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			G	96861159	C	G	96861159	3	3	3	1	0	0	0	0	1	0	0	0	15261	536	19	4	721	4	STARD7	2	96861159	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	8473768	96861159	146338214	65	504										
ANKRD23	200539	hgsc.bcm.edu	37	chr2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	accaggggctcaggtttcctINSgggggggactctgtgtctca							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)cccaggfs	p.R93fs	ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.R93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53																																					p.R93fs		Pindel,Atlas-Indel	.											.	ANKRD23	28	.	0			c.277_278insC						PASS	.			3,4263		0,3,2130						4.5	1			89	6,8248		0,6,4121	no	frameshift	ANKRD23	NM_144994.7		0,9,6251	A1A1,A1R,RR		0.0727,0.0703,0.0719				9,12511				SO:0001589	frameshift_variant	200539	exon3			.		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.277dupC	2.37:g.97507827_97507827dupG	ENSP00000321679:p.Arg93fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_144994	Q711K7|Q8NAJ7	Frame_Shift_Ins	INS	ENST00000318357.4	37	CCDS2027.1																																																																																			.	.	none		0.53	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		G	97507821	-	G	97507820	7	5	3	1	0	1	1	0	0	0	0	0	652	1579	55	0	668	0	ANKRD23	2	97507820	Frame_Shift_Ins	INS	-	TCGA-FA-A4XK-01A-11D-A31X-10	646661	97507820	145691553	66	505										
EIF5B	9669	hgsc.bcm.edu	37	chr2	99995517	99995517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catagtaaaaatgtaaacacCgaaaagctaagagcccctat	6	9	0	1	rs11896520	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:99995517C>T	ENST00000289371.6	+	11	2080	c.1878C>T	c.(1876-1878)acC>acT	p.T626T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	626					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTAAACACCGAAAAGCTAA	0.299													C|||	758	0.151358	0.09	0.3012	5008	,	,		14631	0.0149		0.2753	False		,,,				2504	0.1411				p.T626T	Colon(162;2388 2567 2705 3444)	Atlas-SNP	.											EIF5B,caecum,carcinoma,0,1	EIF5B	95	1	0			c.C1878T						scavenged	.	C		362,3280		12,338,1471	75	66	69		1878	-3.9	1	2	dbSNP_120	69	2231,5933		284,1663,2135	no	coding-synonymous	EIF5B	NM_015904.3		296,2001,3606	TT,TC,CC		27.3273,9.9396,21.9634		626/1221	99995517	2593,9213	1821	4082	5903	SO:0001819	synonymous_variant	9669	exon11			AAACACCGAAAAG	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1878C>T	2.37:g.99995517C>T		Somatic	497	2	0.00402414		WXS	Illumina HiSeq	Phase_I	547	7	0.0127971	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	CCDS42721.1																																																																																			C|0.813;T|0.187	0.187	strong		0.299	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		T	99995517	C	T	99995517	2	4	3	1	0	0	0	0	0	0	0	1	5044	639	23	1		1	EIF5B	2	99995517	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2487697	99995517	143203856	67	506										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107049714	107049714	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catgactgacttaagcatctCttttacagactccaggggca	8	11	1	3	rs62152468		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:107049714C>G	ENST00000409886.3	-	16	2320	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E745Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	745					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAAGCATCTCTTTTACAGAC	0.343																																					p.E745Q		Atlas-SNP	.											RGPD3_ENST00000304514,right_upper_lobe,carcinoma,0,2	RGPD3	316	2	0			c.G2233C						scavenged	.						15	28	24					2																	107049714		673	1545	2218	SO:0001583	missense	653489	exon16			GCATCTCTTTTAC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2233G>C	2.37:g.107049714C>G	ENSP00000386588:p.Glu745Gln	Somatic	892	0	0		WXS	Illumina HiSeq	Phase_I	1066	13	0.0121951	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.999	0.185488	0.09495	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.24908	1.83;1.83	2.34	2.34	0.29019	.	.	.	.	.	T	0.21841	0.0526	M	0.62723	1.935	0.26104	N	0.980775	P	0.35700	0.516	B	0.20955	0.032	T	0.10405	-1.0631	9	0.42905	T	0.14	-11.6791	10.3857	0.44138	0.0:1.0:0.0:0.0	.	745	A6NKT7	RGPD3_HUMAN	Q	745;503;745	ENSP00000386588:E745Q;ENSP00000303659:E745Q	ENSP00000303659:E745Q	E	-	1	0	RGPD3	106416146	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.692000	0.68256	1.308000	0.44962	0.173000	0.16961	GAG	C|0.250;G|0.750	0.750	weak		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		G	107049714	C	G	107049714	3	3	3	1	0	0	0	0	1	0	0	0	13287	922	32	4	3075	4	RGPD3	2	107049714	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	7054197	107049714	136149659	68	507										
TMEM177	80775	hgsc.bcm.edu	37	chr2	120438515	120438515	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcctgtgcaggcctgtttgGagttccaatctcgtaccacc	9	13	1	0	rs11684353	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:120438515G>C	ENST00000424086.1	+	2	559	c.86G>C	c.(85-87)gGa>gCa	p.G29A	TMEM177_ENST00000272521.6_Missense_Mutation_p.G29A|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.G29A|TMEM177_ENST00000409951.1_Missense_Mutation_p.G29A	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	29			G -> A (in dbSNP:rs11684353).			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGCCTGTTTGGAGTTCCAATC	0.612													G|||	701	0.139976	0.1589	0.134	5008	,	,		18151	0.119		0.1511	False		,,,				2504	0.1288				p.G29A		Atlas-SNP	.											.	TMEM177	26	.	0			c.G86C						PASS	.	G	ALA/GLY,ALA/GLY,ALA/GLY	758,3648	308.0+/-290.3	58,642,1503	70	69	70		86,86,86	4	1	2	dbSNP_120	70	1278,7322	253.9+/-279.4	100,1078,3122	yes	missense,missense,missense	TMEM177	NM_001105198.1,NM_001105199.1,NM_030577.2	60,60,60	158,1720,4625	CC,CG,GG		14.8605,17.2038,15.6543	possibly-damaging,possibly-damaging,possibly-damaging	29/312,29/312,29/312	120438515	2036,10970	2203	4300	6503	SO:0001583	missense	80775	exon2			TGTTTGGAGTTCC	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.86G>C	2.37:g.120438515G>C	ENSP00000402661:p.Gly29Ala	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_030577	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	335	0.1533882783882784	82	0.16666666666666666	57	0.1574585635359116	79	0.1381118881118881	117	0.15435356200527706	G	2.536	-0.307404	0.05458	0.172038	0.148605	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	3.95	3.95	0.45737	.	0.117634	0.56097	D	0.000034	T	0.00039	0.0001	L	0.27053	0.805	0.26645	P	0.972203	B;P	0.35745	0.202;0.518	B;B	0.32533	0.104;0.147	T	0.16748	-1.0392	9	0.07644	T	0.81	-1.8004	9.9146	0.41425	0.0:0.2076:0.7924:0.0	rs11684353;rs17609082	29;29	B8ZZT5;Q53S58	.;TM177_HUMAN	A	29	ENSP00000385966:G29A;ENSP00000402661:G29A;ENSP00000272521:G29A;ENSP00000405898:G29A;ENSP00000386430:G29A	ENSP00000272521:G29A	G	+	2	0	TMEM177	120154985	0.999000	0.42202	0.993000	0.49108	0.174000	0.22865	3.461000	0.53035	2.509000	0.84616	0.549000	0.68633	GGA	C|0.155;G|0.845;T|0.000	0.155	strong		0.612	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		C	120438515	G	C	120438515	3	2	3	1	0	0	0	0	1	0	0	0	16091	1174	41	4	88	4	TMEM177	2	120438515	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	13388801	120438515	122760858	69	508										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128367092	128367092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggccgtaggatctggaatcGaagacccagaagctgcttga	13	9	1	3	rs777432	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:128367092G>A	ENST00000409816.2	+	22	2858	c.2826G>A	c.(2824-2826)tcG>tcA	p.S942S	MYO7B_ENST00000389524.4_Silent_p.S942S|MYO7B_ENST00000428314.1_Silent_p.S942S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	942						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATCTGGAATCGAAGACCCAGA	0.597													A|||	1608	0.321086	0.3661	0.2478	5008	,	,		19290	0.1319		0.3857	False		,,,				2504	0.4407				p.S942S		Atlas-SNP	.											MYO7B_ENST00000428314,colon,carcinoma,0,2	MYO7B	359	2	0			c.G2826A						scavenged	.	A		1392,2710		242,908,901	36	42	40		2826	-6.9	0	2	dbSNP_86	40	2971,5405		527,1917,1744	no	coding-synonymous	MYO7B	NM_001080527.1		769,2825,2645	AA,AG,GG		35.4704,33.9347,34.9655		942/2117	128367092	4363,8115	2051	4188	6239	SO:0001819	synonymous_variant	4648	exon23			GGAATCGAAGACC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2826G>A	2.37:g.128367092G>A		Somatic	80	3	0.0375		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_001080527	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																			G|0.692;A|0.308	0.308	strong		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367092	G	A	128367092	2	1	3	1	0	0	0	0	0	0	0	1	10083	1045	37	1		1	MYO7B	2	128367092	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	7928577	128367092	114832281	70	509										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021860	132021860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagagctacgagctgcccgaTggccaggtcatcaccatcgg	12	13	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:132021860T>C	ENST00000356920.5	+	15	2926	c.2832T>C	c.(2830-2832)gaT>gaC	p.D944D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	944	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGCTGCCCGATGGCCAGGTCA	0.597																																					p.D944D		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+1,1	.	.	1	0			c.T2832C						scavenged	.						50	59	56					2																	132021860		2063	4067	6130	SO:0001819	synonymous_variant	445582	exon15			GCCCGATGGCCAG	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2832T>C	2.37:g.132021860T>C		Somatic	121	10	0.0826446		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																			.	.	none		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	132021860	T	C	132021860	2	2	3	1	0	0	0	0	0	0	0	1	12264	1461	51	2		2	POTEE	2	132021860	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3654768	132021860	111177513	71	510										
NEB	4703	hgsc.bcm.edu	37	chr2	152499143	152499143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgataggaatggcatctaccCgcatgtcataacctttcctc	7	12	2	1	rs35974308	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:152499143C>T	ENST00000172853.10	-	60	8465	c.8318G>A	c.(8317-8319)cGg>cAg	p.R2773Q	NEB_ENST00000604864.1_Missense_Mutation_p.R2773Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2773Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2773Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2773Q|NEB_ENST00000427231.2_Missense_Mutation_p.R2773Q			P20929	NEBU_HUMAN	nebulin	2773			R -> Q (in dbSNP:rs35974308).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCATCTACCCGCATGTCATA	0.383													C|||	103	0.0205671	0.003	0.0086	5008	,	,		20553	0.0139		0.0258	False		,,,				2504	0.0542				p.R2773Q		Atlas-SNP	.											.	NEB	1697	.	0			c.G8318A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	21,3741		0,21,1860	88	84	85		8318,8318,8318	6.2	0.9	2	dbSNP_126	85	234,7984		4,226,3879	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	43,43,43	4,247,5739	TT,TC,CC		2.8474,0.5582,2.1285	probably-damaging,probably-damaging,probably-damaging	2773/8526,2773/8526,2773/6670	152499143	255,11725	1881	4109	5990	SO:0001583	missense	4703	exon60			TCTACCCGCATGT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8318G>A	2.37:g.152499143C>T	ENSP00000172853:p.Arg2773Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	134	7	0.0522388	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		38	0.0173992673992674	2	0.0040650406504065045	6	0.016574585635359115	7	0.012237762237762238	23	0.030343007915567283	C	18.81	3.703758	0.68501	0.005582	0.028474	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09723	3.19;3.13;3.13;2.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11792	-1.0573	10	0.36615	T	0.2	.	20.8794	0.99867	0.0:1.0:0.0:0.0	rs35974308	2773	P20929	NEBU_HUMAN	Q	2773	ENSP00000386259:R2773Q;ENSP00000380505:R2773Q;ENSP00000416578:R2773Q;ENSP00000172853:R2773Q	ENSP00000172853:R2773Q	R	-	2	0	NEB	152207389	0.992000	0.36948	0.925000	0.36789	0.006000	0.05464	3.918000	0.56432	2.941000	0.99782	0.655000	0.94253	CGG	C|0.981;T|0.019	0.019	strong		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152499143	C	T	152499143	3	4	3	1	0	0	0	0	1	0	0	0	10302	652	23	1	17860	1	NEB	2	152499143	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	20477283	152499143	90700230	72	511										
NEB	4703	hgsc.bcm.edu	37	chr2	152527608	152527608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggcacacttgtgaacttgaCggtatctgggtgctgtcgat	13	8	1	2	rs34577613	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:152527608C>T	ENST00000172853.10	-	38	4582	c.4435G>A	c.(4435-4437)Gtc>Atc	p.V1479I	NEB_ENST00000604864.1_Missense_Mutation_p.V1479I|NEB_ENST00000409198.1_Missense_Mutation_p.V1479I|NEB_ENST00000603639.1_Missense_Mutation_p.V1479I|NEB_ENST00000397345.3_Missense_Mutation_p.V1479I|NEB_ENST00000427231.2_Missense_Mutation_p.V1479I			P20929	NEBU_HUMAN	nebulin	1479			V -> I (in dbSNP:rs34577613).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V1479I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGAACTTGACGGTATCTGGG	0.483													T|||	1679	0.335264	0.4546	0.1095	5008	,	,		21763	0.5754		0.1223	False		,,,				2504	0.3057				p.V1479I		Atlas-SNP	.											NEB,NS,carcinoma,0,1	NEB	1697	1	1	Substitution - Missense(1)	stomach(1)	c.G4435A						scavenged	.	T	ILE/VAL,ILE/VAL,ILE/VAL	1503,2705		261,981,862	164	163	163		4435,4435,4435	4.2	1	2	dbSNP_126	163	920,7532		58,804,3364	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	319,1785,4226	TT,TC,CC		10.885,35.7177,19.139	benign,benign,benign	1479/8526,1479/8526,1479/6670	152527608	2423,10237	2104	4226	6330	SO:0001583	missense	4703	exon38			ACTTGACGGTATC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4435G>A	2.37:g.152527608C>T	ENSP00000172853:p.Val1479Ile	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	137	6	0.0437956	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		700	0.32051282051282054	243	0.49390243902439024	46	0.1270718232044199	322	0.5629370629370629	89	0.11741424802110818	T	5.418	0.262254	0.10239	0.357177	0.10885	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.5;3.53;3.53;3.54	5.42	4.25	0.50352	.	0.288297	0.32671	N	0.005787	T	0.00012	0.0000	N	0.00707	-1.245	0.09310	P	0.9999999999754821	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	9	0.10902	T	0.67	.	7.0714	0.25181	0.0:0.138:0.1258:0.7362	rs34577613;rs60727639	1479	P20929	NEBU_HUMAN	I	1479	ENSP00000386259:V1479I;ENSP00000380505:V1479I;ENSP00000416578:V1479I;ENSP00000172853:V1479I	ENSP00000172853:V1479I	V	-	1	0	NEB	152235854	0.007000	0.16637	1.000000	0.80357	0.802000	0.45316	0.019000	0.13444	0.997000	0.38969	-0.254000	0.11334	GTC	C|0.705;T|0.295	0.295	strong		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152527608	C	T	152527608	3	4	3	1	0	0	0	0	1	0	0	0	10302	536	19	1	21831	1	NEB	2	152527608	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	28465	152527608	90671765	73	512										
PKP4	8502	hgsc.bcm.edu	37	chr2	159389762	159389762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagacccgccaggaagctgcCtccactggcccaggcatgga	12	16	0	1	rs35112233	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:159389762C>T	ENST00000389759.3	+	2	178	c.66C>T	c.(64-66)gcC>gcT	p.A22A	snoZ5_ENST00000515912.1_RNA|PKP4_ENST00000389757.3_Silent_p.A22A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	22					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGGAAGCTGCCTCCACTGGCC	0.552										HNSCC(62;0.18)			C|||	135	0.0269569	0.0113	0.0562	5008	,	,		16055	0.0		0.0676	False		,,,				2504	0.0133				p.A22A		Atlas-SNP	.											.	PKP4	133	.	0			c.C66T						PASS	.	C	,	87,4319	73.1+/-111.1	2,83,2118	49	46	47		66,66	5.3	1	2	dbSNP_126	47	560,8040	152.1+/-206.7	21,518,3761	no	coding-synonymous,coding-synonymous	PKP4	NM_001005476.1,NM_003628.3	,	23,601,5879	TT,TC,CC		6.5116,1.9746,4.9746	,	22/1150,22/1193	159389762	647,12359	2203	4300	6503	SO:0001819	synonymous_variant	8502	exon2			AGCTGCCTCCACT	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.66C>T	2.37:g.159389762C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	89	7	0.0786517	NM_001005476	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																			C|0.953;T|0.047	0.047	strong		0.552	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			T	159389762	C	T	159389762	2	4	3	1	0	0	0	0	0	0	0	1	11987	668	24	2		2	PKP4	2	159389762	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6862154	159389762	83809611	74	513										
SCN3A	6328	hgsc.bcm.edu	37	chr2	165987772	165987772	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	accagtctgaatgatcgcagTacagacaatccctccacatt	6	13	1	3	rs62174900	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:165987772T>G	ENST00000360093.3	-	16	3038	c.2547A>C	c.(2545-2547)gtA>gtC	p.V849V	SCN3A_ENST00000409101.3_Silent_p.V800V|SCN3A_ENST00000283254.7_Silent_p.V849V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	849					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATCGCAGTACAGACAATC	0.333													T|||	910	0.181709	0.0234	0.1787	5008	,	,		11002	0.2728		0.1968	False		,,,				2504	0.2883				p.V849V		Atlas-SNP	.											.	SCN3A	544	.	0			c.A2547C						PASS	.	T	,,	284,4122	155.9+/-189.0	13,258,1932	103	100	101		2400,2400,2547	-1.7	1	2	dbSNP_129	101	1835,6765	328.5+/-318.3	208,1419,2673	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	221,1677,4605	GG,GT,TT		21.3372,6.4458,16.2925	,,	800/1952,800/1952,849/2001	165987772	2119,10887	2203	4300	6503	SO:0001819	synonymous_variant	6328	exon16			TCGCAGTACAGAC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2547A>C	2.37:g.165987772T>G		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	278	16	0.057554	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																				T|0.828;G|0.172	0.172	strong		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165987772	T	G	165987772	2	3	3	1	0	0	0	0	0	0	0	1	13918	1625	57	5		5	SCN3A	2	165987772	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	6598010	165987772	77211601	75	514										
HOXD11	3237	hgsc.bcm.edu	37	chr2	176972104	176972104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgaacgactttgacgagtgCggccagagcgcagccagcat	13	11	0	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:176972104C>T	ENST00000249504.5	+	1	91	c.21C>T	c.(19-21)tgC>tgT	p.C7C	HOXD11_ENST00000498438.1_Intron|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	7					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TTGACGAGTGCGGCCAGAGCG	0.642			T	NUP98	AML																																p.C7C		Atlas-SNP	.		Dom	yes		2	2q31-q32	3237	homeo box D11		L	.	HOXD11	26	.	0			c.C21T						PASS	.						22	19	20					2																	176972104		2190	4275	6465	SO:0001819	synonymous_variant	3237	exon1			CGAGTGCGGCCAG		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"Homeoboxes / ANTP class : HOXL subclass"	5134	protein-coding gene	gene with protein product		142986	"homeo box D11"	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.21C>T	2.37:g.176972104C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	124	34	0.274194	NM_021192	A6NIS4|Q9NS02	Silent	SNP	ENST00000249504.5	37	CCDS2265.1																																																																																			.	.	none		0.642	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			T	176972104	C	T	176972104	2	4	3	1	0	0	0	0	0	0	0	1	7320	776	27	1		1	HOXD11	2	176972104	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	10984332	176972104	66227269	76	515										
TTN	7273	hgsc.bcm.edu	37	chr2	179400129	179400129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tttctcgggcctgtcctacaCggagccatctttctgcagta	9	13	3	0	rs192391568	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:179400129C>T	ENST00000591111.1	-	308	96514	c.96290G>A	c.(96289-96291)cGt>cAt	p.R32097H	TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24673H|TTN_ENST00000342175.6_Missense_Mutation_p.R24865H|TTN_ENST00000359218.5_Missense_Mutation_p.R24798H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31170H|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33738H|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32097	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C. {ECO:0000269|PubMed:17344846}.		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)			CTGTCCTACACGGAGCCATCT	0.433													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		23700	0.0		0.0	False		,,,				2504	0.0				p.R33738H		Atlas-SNP	.											.	TTN	18412	.	0			c.G101213A						PASS	.						98	96	97					2																	179400129		1951	4152	6103	SO:0001583	missense	7273	exon358			CCTACACGGAGCC	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.96290G>A	2.37:g.179400129C>T	ENSP00000465570:p.Arg32097His	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	69	38	0.550725	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	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.13	3.556169	0.65425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.52	5.52	0.82312	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68165	0.2971	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.69405	-0.5154	9	0.87932	D	0	.	19.8108	0.96545	0.0:1.0:0.0:0.0	.	24673;24798;24865;32097	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	31170;24673;24865;24798;24670	ENSP00000343764:R31170H;ENSP00000434586:R24673H;ENSP00000340554:R24865H;ENSP00000352154:R24798H	ENSP00000340554:R24865H	R	-	2	0	TTN	179108375	1.000000	0.71417	0.971000	0.41717	0.961000	0.63080	7.776000	0.85560	2.754000	0.94517	0.557000	0.71058	CGT	C|1.000;T|0.000	0.000	strong		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179400129	C	T	179400129	3	4	3	1	0	0	0	0	1	0	0	0	16732	536	19	1	6786	1	TTN	2	179400129	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2428025	179400129	63799244	77	516										
ZNF804A	91752	hgsc.bcm.edu	37	chr2	185801559	185801559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tctagataaaaataagccagActtaaaagatctttgttctc	5	7	3	3	rs35676856	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:185801559A>G	ENST00000302277.6	+	4	2030	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	479			D -> G (in dbSNP:rs35676856). {ECO:0000269|PubMed:15489334}.				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						AATAAGCCAGACTTAAAAGAT	0.338													A|||	177	0.0353435	0.0159	0.0331	5008	,	,		17452	0.0159		0.0666	False		,,,				2504	0.0511				p.D479G		Atlas-SNP	.											ZNF804A,NS,carcinoma,+1,1	ZNF804A	322	1	0			c.A1436G						scavenged	.	A	GLY/ASP	115,4289	81.9+/-120.4	1,113,2088	76	80	79		1436	1.5	0	2	dbSNP_126	79	669,7931	162.9+/-215.5	33,603,3664	yes	missense	ZNF804A	NM_194250.1	94	34,716,5752	GG,GA,AA		7.7791,2.6113,6.0289	benign	479/1210	185801559	784,12220	2202	4300	6502	SO:0001583	missense	91752	exon4			AGCCAGACTTAAA	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.1436A>G	2.37:g.185801559A>G	ENSP00000303252:p.Asp479Gly	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	317	9	0.0283912	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	72	0.03296703296703297	3	0.006097560975609756	12	0.03314917127071823	9	0.015734265734265736	48	0.0633245382585752	A	0.808	-0.753030	0.03041	0.026113	0.077791	ENSG00000170396	ENST00000302277	T	0.05996	3.36	5.69	1.48	0.22813	.	1.391250	0.04406	N	0.365125	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42849	-0.9427	10	0.22706	T	0.39	0.1455	2.8485	0.05550	0.4077:0.37:0.1275:0.0948	rs35676856	479	Q7Z570	Z804A_HUMAN	G	479	ENSP00000303252:D479G	ENSP00000303252:D479G	D	+	2	0	ZNF804A	185509804	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.058000	0.14301	0.713000	0.32060	-0.144000	0.13903	GAC	A|0.947;G|0.053	0.053	strong		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185801559	A	G	185801559	3	3	3	1	0	0	0	0	1	0	0	0	18167	275	10	2	1450	2	ZNF804A	2	185801559	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	6401430	185801559	57397814	78	517										
MFSD6	54842	hgsc.bcm.edu	37	chr2	191300917	191300917	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctattcctgaggaggaaatAgactggatagagaaacattg	12	5	0	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:191300917A>C	ENST00000392328.1	+	3	486	c.162A>C	c.(160-162)atA>atC	p.I54I	MFSD6_ENST00000281416.7_Silent_p.I54I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	54					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGAGGAAATAGACTGGATAG	0.403																																					p.I54I		Atlas-SNP	.											.	MFSD6	58	.	0			c.A162C						PASS	.						108	110	109					2																	191300917		2203	4300	6503	SO:0001819	synonymous_variant	54842	exon3			GGAAATAGACTGG		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.162A>C	2.37:g.191300917A>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	188	84	0.446809	NM_017694	D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	CCDS2306.1																																																																																			.	.	none		0.403	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			C	191300917	A	C	191300917	2	2	3	1	0	0	0	0	0	0	0	1	9535	410	15	5		5	MFSD6	2	191300917	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	5499358	191300917	51898456	79	518										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	438	7	0.0159817	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	3	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	7062617	198363534	44835839	80	519										
INO80D	54891	hgsc.bcm.edu	37	chr2	206882530	206882530	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agctgctgagagtggttcaaGaggatatctgggttttttta	13	4	2	2	rs41272653	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:206882530G>C	ENST00000403263.1	-	8	1820	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	472					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGTGGTTCAAGAGGATATCTG	0.373													G|||	125	0.0249601	0.0038	0.0202	5008	,	,		16770	0.0308		0.0239	False		,,,				2504	0.0521				p.L472L		Atlas-SNP	.											.	INO80D	134	.	0			c.C1416G						PASS	.	G		29,3673		0,29,1822	110	109	109		1416	3.5	1	2	dbSNP_127	109	267,7951		0,267,3842	no	coding-synonymous	INO80D	NM_017759.4		0,296,5664	CC,CG,GG		3.249,0.7834,2.4832		472/1028	206882530	296,11624	1851	4109	5960	SO:0001819	synonymous_variant	54891	exon8			GTTCAAGAGGATA		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1416C>G	2.37:g.206882530G>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	152	9	0.0592105	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	CCDS46500.1																																																																																			G|0.978;C|0.022	0.022	strong		0.373	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		C	206882530	G	C	206882530	2	2	3	1	0	0	0	0	0	0	0	1	7749	929	33	4		4	INO80D	2	206882530	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8518996	206882530	36316843	81	520										
ZDBF2	57683	hgsc.bcm.edu	37	chr2	207172627	207172627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catcctgatgtttctgtccaAtctgtggctgatcaacccaa	7	12	3	2	rs7582864	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:207172627A>G	ENST00000374423.3	+	5	3761	c.3375A>G	c.(3373-3375)caA>caG	p.Q1125Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1125							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCTGTCCAATCTGTGGCTG	0.343													a|||	2293	0.457867	0.326	0.6066	5008	,	,		19868	0.3571		0.5636	False		,,,				2504	0.5256				p.Q1125Q		Atlas-SNP	.											ZDBF2_ENST00000374423,NS,carcinoma,0,2	ZDBF2	531	2	0			c.A3375G						scavenged	.	G		1460,2232		300,860,686	50	47	48		3375	-4.3	0	2	dbSNP_116	48	4868,3302		1450,1968,667	no	coding-synonymous	ZDBF2	NM_020923.1		1750,2828,1353	GG,GA,AA		40.4162,39.545,46.6532		1125/2355	207172627	6328,5534	1846	4085	5931	SO:0001819	synonymous_variant	57683	exon5			TGTCCAATCTGTG	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3375A>G	2.37:g.207172627A>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	208	5	0.0240385	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																			A|0.540;G|0.460	0.460	strong		0.343	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207172627	A	G	207172627	2	3	3	1	0	0	0	0	0	0	0	1	17596	98	4	2		2	ZDBF2	2	207172627	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	290097	207172627	36026746	82	521										
ACADL	33	hgsc.bcm.edu	37	chr2	211060050	211060050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtttttaattctgctaattTatgttgcactgtcttgaatt	6	5	2	1	rs2286963	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:211060050T>G	ENST00000233710.3	-	9	1224	c.997A>C	c.(997-999)Aaa>Caa	p.K333Q	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	333			K -> Q (in dbSNP:rs2286963). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.7}.		carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCTGCTAATTTATGTTGCACT	0.353													T|||	1057	0.211062	0.0893	0.2248	5008	,	,		18082	0.1865		0.3131	False		,,,				2504	0.2863				p.K333Q		Atlas-SNP	.											.	ACADL	38	.	0			c.A997C						PASS	.	T	GLN/LYS	661,3745	280.5+/-275.4	53,555,1595	90	86	88	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	997	5.8	1	2	dbSNP_100	88	2936,5664	456.2+/-364.0	488,1960,1852	yes	missense	ACADL	NM_001608.3	53	541,2515,3447	GG,GT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	34.1395,15.0023,27.6565	probably-damaging	333/431	211060050	3597,9409	2203	4300	6503	SO:0001583	missense	33	exon9			CTAATTTATGTTG	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.997A>C	2.37:g.211060050T>G	ENSP00000233710:p.Lys333Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	101	5	0.049505	NM_001608	B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	CCDS2389.1	500	0.22893772893772893	55	0.11178861788617886	100	0.27624309392265195	105	0.18356643356643357	240	0.316622691292876	T	18.22	3.576473	0.65878	0.150023	0.341395	ENSG00000115361	ENST00000233710	D	0.96232	-3.95	5.77	5.77	0.91146	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.041576	0.85682	D	0.000000	T	0.00039	0.0001	L	0.57130	1.785	0.09310	P	0.99999853838	D	0.56968	0.978	P	0.58577	0.841	T	0.00000	-1.5769	9	0.31617	T	0.26	.	16.1475	0.81580	0.0:0.0:0.0:1.0	rs2286963;rs17769161;rs56601090;rs59503505;rs2286963	333	P28330	ACADL_HUMAN	Q	333	ENSP00000233710:K333Q	ENSP00000233710:K333Q	K	-	1	0	ACADL	210768295	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.842000	0.75379	2.213000	0.71641	0.529000	0.55759	AAA	G|0.250;N|0.000	0.250	strong		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		G	211060050	T	G	211060050	3	3	3	1	0	0	0	0	1	0	0	0	112	1763	61	5	307	5	ACADL	2	211060050	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3887423	211060050	32139323	83	522										
CXCR2	3579	hgsc.bcm.edu	37	chr2	219000310	219000310	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtcgtcctcatcttcctgctCtgctggctgccctacaacct	7	17	3	0	rs2230054	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:219000310C>T	ENST00000318507.2	+	3	1213	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	262					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.L262L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TCTTCCTGCTCTGCTGGCTGC	0.607													T|||	2566	0.51238	0.7315	0.5072	5008	,	,		20598	0.3175		0.4602	False		,,,				2504	0.4744				p.L262L		Atlas-SNP	.											CXCR2,NS,carcinoma,0,1	CXCR2	54	1	1	Substitution - coding silent(1)	stomach(1)	c.C786T						scavenged	.	T	,	2852,1554	488.1+/-361.1	924,1004,275	128	124	125		786,786	4.5	1	2	dbSNP_98	125	4308,4292	576.8+/-390.4	1043,2222,1035	no	coding-synonymous,coding-synonymous	CXCR2	NM_001168298.1,NM_001557.3	,	1967,3226,1310	TT,TC,CC		49.907,35.2701,44.9485	,	262/361,262/361	219000310	7160,5846	2203	4300	6503	SO:0001819	synonymous_variant	3579	exon4			CCTGCTCTGCTGG	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.786C>T	2.37:g.219000310C>T		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	66	7	0.106061	NM_001168298	Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	CCDS2408.1																																																																																			C|0.465;T|0.535	0.535	strong		0.607	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		T	219000310	C	T	219000310	2	4	3	1	0	0	0	0	0	0	0	1	4091	900	32	2		2	CXCR2	2	219000310	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	7940260	219000310	24199063	84	523										
IHH	3549	hgsc.bcm.edu	37	chr2	219920412	219920412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggaaggctctcagcctgtgAggctcgcggtccaggaaaat	14	10	1	1	rs3731881	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:219920412A>G	ENST00000295731.6	-	3	752	c.753T>C	c.(751-753)ccT>ccC	p.P251P	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	251					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCCTGTGAGGCTCGCGGT	0.642													G|||	2428	0.484824	0.4395	0.5331	5008	,	,		15926	0.2788		0.672	False		,,,				2504	0.5317				p.P251P		Atlas-SNP	.											.	IHH	33	.	0			c.T753C						PASS	.	G		1999,2407	613.7+/-392.2	456,1087,660	56	58	58		753	-5.8	0	2	dbSNP_107	58	5732,2868	449.0+/-362.0	1881,1970,449	yes	coding-synonymous	IHH	NM_002181.3		2337,3057,1109	GG,GA,AA		33.3488,45.37,40.5582		251/412	219920412	7731,5275	2203	4300	6503	SO:0001819	synonymous_variant	3549	exon3			CCTGTGAGGCTCG	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.753T>C	2.37:g.219920412A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	97	10	0.103093	NM_002181	B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	CCDS33380.1																																																																																			A|0.454;G|0.546	0.546	strong		0.642	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		G	219920412	A	G	219920412	2	3	3	1	0	0	0	0	0	0	0	1	7607	291	11	3		3	IHH	2	219920412	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	920102	219920412	23278961	85	524										
SERPINE2	5270	hgsc.bcm.edu	37	chr2	224862842	224862842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggccactcacccctggtttcAtttttaacccatgcattgat	6	13	2	1	rs12457	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:224862842A>G	ENST00000258405.4	-	3	719	c.477T>C	c.(475-477)aaT>aaC	p.N159N	SERPINE2_ENST00000409840.3_Silent_p.N159N|SERPINE2_ENST00000409304.1_Silent_p.N159N|SERPINE2_ENST00000447280.2_Silent_p.N171N	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	159				N -> D (in Ref. 4; BAG35401). {ECO:0000305}.	blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCCTGGTTTCATTTTTAACCC	0.453													G|||	1272	0.253994	0.4826	0.2161	5008	,	,		20707	0.129		0.1909	False		,,,				2504	0.1656				p.N171N		Atlas-SNP	.											.	SERPINE2	103	.	0			c.T513C						PASS	.	G	,,	1957,2449	621.9+/-393.8	440,1077,686	71	66	68		477,513,477	-1.8	0.5	2	dbSNP_116	68	1679,6921	739.8+/-407.1	161,1357,2782	no	coding-synonymous,coding-synonymous,coding-synonymous	SERPINE2	NM_001136528.1,NM_001136530.1,NM_006216.3	,,	601,2434,3468	GG,GA,AA		19.5233,44.4167,27.9563	,,	159/398,171/410,159/399	224862842	3636,9370	2203	4300	6503	SO:0001819	synonymous_variant	5270	exon3			GGTTTCATTTTTA	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.477T>C	2.37:g.224862842A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	115	6	0.0521739	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																			A|0.718;G|0.282	0.282	strong		0.453	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		G	224862842	A	G	224862842	2	3	3	1	0	0	0	0	0	0	0	1	14112	214	8	2		2	SERPINE2	2	224862842	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	4942430	224862842	18336531	86	525										
MFF	56947	hgsc.bcm.edu	37	chr2	228197238	228197238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acaccacctcgtgtacttacGctgagtgaaagaccactaga	8	12	0	4	rs11557342	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:228197238G>A	ENST00000353339.3	+	5	804	c.363G>A	c.(361-363)acG>acA	p.T121T	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.T95T|MFF_ENST00000349901.7_Silent_p.T95T|MFF_ENST00000409616.1_Silent_p.T95T|MFF_ENST00000524634.1_De_novo_Start_InFrame|MFF_ENST00000304593.9_Silent_p.T95T|MFF_ENST00000354503.6_Silent_p.T95T|MFF_ENST00000392059.1_Silent_p.T121T|MFF_ENST00000337110.7_Silent_p.T95T	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	121					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.T121T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GTGTACTTACGCTGAGTGAAA	0.393													G|||	446	0.0890575	0.0741	0.1081	5008	,	,		17428	0.1022		0.0716	False		,,,				2504	0.1002				p.T121T		Atlas-SNP	.											MFF,NS,carcinoma,0,1	MFF	48	1	1	Substitution - coding silent(1)	stomach(1)	c.G363A						scavenged	.	G		328,4078	171.6+/-201.8	4,320,1879	259	254	256		363	-10.2	0.5	2	dbSNP_120	256	749,7851	179.6+/-228.7	30,689,3581	no	coding-synonymous	MFF	NM_020194.4		34,1009,5460	AA,AG,GG		8.7093,7.4444,8.2808		121/343	228197238	1077,11929	2203	4300	6503	SO:0001819	synonymous_variant	56947	exon5			ACTTACGCTGAGT	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.363G>A	2.37:g.228197238G>A		Somatic	378	1	0.0026455		WXS	Illumina HiSeq	Phase_I	382	5	0.013089	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	CCDS2465.1																																																																																			G|0.922;A|0.078	0.078	strong		0.393	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		A	228197238	G	A	228197238	2	1	3	1	0	0	0	0	0	0	0	1	9519	1074	38	1		1	MFF	2	228197238	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3334396	228197238	15002135	87	526										
SPP2	6694	hgsc.bcm.edu	37	chr2	234967539	234967539	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagttcagcatccgggagacTacatgcaggaaggattctgg	14	8	2	1	rs593668	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:234967539T>A	ENST00000168148.3	+	3	358	c.270T>A	c.(268-270)acT>acA	p.T90T	SPP2_ENST00000373368.1_Silent_p.T90T	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	90					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TCCGGGAGACTACATGCAGGA	0.443													T|||	3458	0.690495	0.6097	0.6772	5008	,	,		20784	0.629		0.7187	False		,,,				2504	0.8436				p.T90T		Atlas-SNP	.											.	SPP2	35	.	0			c.T270A						PASS	.	T		2722,1684	655.5+/-399.9	856,1010,337	120	108	112		270	-8	0	2	dbSNP_83	112	6202,2398	700.9+/-405.2	2213,1776,311	no	coding-synonymous	SPP2	NM_006944.2		3069,2786,648	AA,AT,TT		27.8837,38.2206,31.3855		90/212	234967539	8924,4082	2203	4300	6503	SO:0001819	synonymous_variant	6694	exon3			GGAGACTACATGC		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.270T>A	2.37:g.234967539T>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	116	6	0.0517241	NM_006944	A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	CCDS2511.1																																																																																			T|0.324;A|0.676	0.676	strong		0.443	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		A	234967539	T	A	234967539	2	1	3	1	0	0	0	0	0	0	0	1	15086	1509	53	5		5	SPP2	2	234967539	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	6770301	234967539	8231834	88	527										
KIF1A	547	hgsc.bcm.edu	37	chr2	241685586	241685586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccaccacggggcaagactcGgactggaactgatcagaggg	14	12	1	3	rs73102625	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr2:241685586G>A	ENST00000320389.7	-	28	2927	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	KIF1A_ENST00000498729.2_Silent_p.S1024S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	923					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCAAGACTCGGACTGGAACT	0.682													G|||	252	0.0503195	0.0877	0.0504	5008	,	,		16642	0.0099		0.0527	False		,,,				2504	0.0389				p.S1024S		Atlas-SNP	.											.	KIF1A	152	.	0			c.C3072T						PASS	.	G		260,3782		10,240,1771	11	13	13		2769	-3.6	1	2	dbSNP_130	13	449,7889		9,431,3729	no	coding-synonymous	KIF1A	NM_004321.5		19,671,5500	AA,AG,GG		5.385,6.4325,5.727		923/1691	241685586	709,11671	2021	4169	6190	SO:0001819	synonymous_variant	547	exon30			AGACTCGGACTGG	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2769C>T	2.37:g.241685586G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	5	0.0526316	NM_001244008	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	CCDS46561.1	103	0.04716117216117216	29	0.05894308943089431	22	0.06077348066298342	8	0.013986013986013986	44	0.05804749340369393	G	6.818	0.519965	0.13005	0.064325	0.05385	ENSG00000130294	ENST00000415042	.	.	.	3.97	-3.63	0.04529	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19582	-1.0301	4	.	.	.	.	3.6227	0.08101	0.5035:0.1041:0.2882:0.1042	.	.	.	.	L	50	.	.	P	-	2	0	KIF1A	241334259	0.000000	0.05858	0.990000	0.47175	0.733000	0.41908	-6.064000	0.00083	-0.654000	0.05394	-0.671000	0.03813	CCG	G|0.951;A|0.049	0.049	strong		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241685586	G	A	241685586	2	1	3	1	0	0	0	0	0	0	0	1	8283	1103	39	1		1	KIF1A	2	241685586	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	6718047	241685586	1513787	89	528										
LRRN1	57633	hgsc.bcm.edu	37	chr3	3887876	3887876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtggcaacaattaaggttaaTgggacccttctggatggtac	12	7	1	0	rs2120609	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:3887876T>C	ENST00000319331.3	+	2	2312	c.1551T>C	c.(1549-1551)aaT>aaC	p.N517N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	517						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTAAGGTTAATGGGACCCTTC	0.428													T|||	2396	0.478435	0.4274	0.572	5008	,	,		20997	0.254		0.7336	False		,,,				2504	0.4499				p.N517N		Atlas-SNP	.											.	LRRN1	82	.	0			c.T1551C						PASS	.	T		2009,2397	558.7+/-380.1	446,1117,640	79	80	80		1551	-1.2	1	3	dbSNP_96	80	6199,2401	697.4+/-404.9	2248,1703,349	no	coding-synonymous	LRRN1	NM_020873.5		2694,2820,989	CC,CT,TT		27.9186,45.5969,36.8907		517/717	3887876	8208,4798	2203	4300	6503	SO:0001819	synonymous_variant	57633	exon2			GGTTAATGGGACC	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1551T>C	3.37:g.3887876T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	67	5	0.0746269	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																			T|0.432;C|0.568	0.568	strong		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		C	3887876	T	C	3887876	2	2	3	1	0	0	0	0	0	0	0	1	9034	1461	51	2		2	LRRN1	3	3887876	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10		3887876	194134554	90	529										
SH3BP5	9467	hgsc.bcm.edu	37	chr3	15311325	15311325	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagatggtctccttggcggcAcggagcacctctgtggccct	14	13	2	1	rs1287467	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:15311325A>G	ENST00000383791.3	-	4	610	c.390T>C	c.(388-390)cgT>cgC	p.R130R	SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	130					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CCTTGGCGGCACGGAGCACCT	0.602													G|||	2550	0.509185	0.6248	0.4697	5008	,	,		18284	0.1895		0.6889	False		,,,				2504	0.5256				p.R130R		Atlas-SNP	.											.	SH3BP5	32	.	0			c.T390C						PASS	.	G	,	2696,1710	514.5+/-368.7	828,1040,335	110	114	113		,390	-10.8	0	3	dbSNP_87	113	5893,2707	433.4+/-357.4	2014,1865,421	no	utr-5,coding-synonymous	SH3BP5	NM_001018009.2,NM_004844.3	,	2842,2905,756	GG,GA,AA		31.4767,38.8107,33.9612	,	,130/456	15311325	8589,4417	2203	4300	6503	SO:0001819	synonymous_variant	9467	exon4			GGCGGCACGGAGC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.390T>C	3.37:g.15311325A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	72	10	0.138889	NM_004844	B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	CCDS2625.2																																																																																			A|0.378;G|0.621	0.621	strong		0.602	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		G	15311325	A	G	15311325	2	3	3	1	0	0	0	0	0	0	0	1	14247	146	6	2		2	SH3BP5	3	15311325	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	11423449	15311325	182711105	91	530										
ZCWPW2	152098	hgsc.bcm.edu	37	chr3	28476649	28476649	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tttaaagggaaatatgtaacTtatgacccggatggaaatgt	10	4	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:28476649T>G	ENST00000383768.2	+	4	569	c.381T>G	c.(379-381)acT>acG	p.T127T	ZCWPW2_ENST00000421010.1_Silent_p.T127T			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	127	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AATATGTAACTTATGACCCGG	0.358																																					p.T127T		Atlas-SNP	.											.	ZCWPW2	49	.	0			c.T381G						PASS	.						96	97	97					3																	28476649		2203	4300	6503	SO:0001819	synonymous_variant	152098	exon3			TGTAACTTATGAC	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.381T>G	3.37:g.28476649T>G		Somatic	364	1	0.00274725		WXS	Illumina HiSeq	Phase_I	363	129	0.355372	NM_001040432		Silent	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	T	5.612	0.297711	0.10622	.	.	ENSG00000206559	ENST00000428875	.	.	.	6.06	1.1	0.20463	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	1.5734	4.335	0.11081	0.1458:0.5228:0.0:0.3314	.	.	.	.	V	111	.	.	L	+	1	2	ZCWPW2	28451653	0.463000	0.25799	0.677000	0.29947	0.479000	0.33129	-0.481000	0.06552	-0.073000	0.12842	-0.859000	0.03014	TTA	.	.	none		0.358	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		G	28476649	T	G	28476649	2	3	3	1	0	0	0	0	0	0	0	1	17595	1596	56	5		5	ZCWPW2	3	28476649	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	13165324	28476649	169545781	92	531										
TTC21A	199223	hgsc.bcm.edu	37	chr3	39161456	39161456	+	Missense_Mutation	SNP	G	G	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gattaaggcactagagacaaGggaacccgaaaatccaagcc					rs1274972	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:39161456G>A	ENST00000431162.2	+	8	1003	c.869G>A	c.(868-870)aGg>aAg	p.R290K	TTC21A_ENST00000440121.1_Missense_Mutation_p.R241K|TTC21A_ENST00000301819.6_Missense_Mutation_p.R290K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	290			R -> K (in dbSNP:rs1274972).							NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTAGAGACAAGGGAACCCGAA	0.458													G|||	2282	0.455671	0.8495	0.3429	5008	,	,		18365	0.2738		0.334	False		,,,				2504	0.316				p.R290K		Atlas-SNP	.											.	TTC21A	96	.	0			c.G869A						PASS	.	G	LYS/ARG,LYS/ARG	2803,953		1044,715,119	114	123	120		722,869	1.8	0.4	3	dbSNP_87	120	2777,5435		486,1805,1815	yes	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	26,26	1530,2520,1934	AA,AG,GG		33.8164,25.3727,46.6243	benign,benign	241/1273,290/1321	39161456	5580,6388	1878	4106	5984	SO:0001583	missense	199223	exon8			AGACAAGGGAACC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.869G>A	3.37:g.39161456G>A	ENSP00000398211:p.Arg290Lys	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	198	9	0.0454545	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	959	0.4391025641025641	410	0.8333333333333334	133	0.3674033149171271	166	0.2902097902097902	250	0.32981530343007914	G	3.931	-0.016256	0.07681	0.746273	0.338164	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.34472	1.36;1.36;2.31	5.67	1.76	0.24704	.	0.359920	0.28989	N	0.013481	T	0.00012	0.0000	L	0.33485	1.01	0.80722	P	0.0	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.14578	0.006;0.011;0.005	T	0.13872	-1.0493	9	0.27785	T	0.31	-0.8765	6.5884	0.22634	0.2034:0.2446:0.552:0.0	rs1274972;rs61530584;rs1274972	241;290;290	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	290;282;290;241	ENSP00000301819:R290K;ENSP00000398211:R290K;ENSP00000410882:R241K	ENSP00000301819:R290K	R	+	2	0	TTC21A	39136460	0.007000	0.16637	0.354000	0.25760	0.288000	0.27193	0.778000	0.26732	0.315000	0.23110	-0.175000	0.13238	AGG	G|0.555;A|0.445	0.445	strong		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39161456	G	A	39161456	3	1	3	1	0	0	0	0	1	0	0	0	16684	1000	35	2	899	2	TTC21A	3	39161456	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	10684807	39161456	158860974	93	532	13	2								
TTC21A	199223	hgsc.bcm.edu	37	chr3	39161464	39161464	+	Missense_Mutation	SNP	G	G	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cactagagacaagggaacccGaaaatccaagcctccatctt					rs1274971	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:39161464G>A	ENST00000431162.2	+	8	1011	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	TTC21A_ENST00000440121.1_Missense_Mutation_p.E244K|TTC21A_ENST00000301819.6_Missense_Mutation_p.E293K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	293			E -> K (in dbSNP:rs1274971).							NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGGGAACCCGAAAATCCAAG	0.443													G|||	2282	0.455671	0.8495	0.3429	5008	,	,		18210	0.2738		0.334	False		,,,				2504	0.316				p.E293K		Atlas-SNP	.											.	TTC21A	96	.	0			c.G877A						PASS	.	G	LYS/GLU,LYS/GLU	2790,932		1038,714,109	106	114	111		730,877	3.9	0.9	3	dbSNP_87	111	2786,5410		485,1816,1797	yes	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	56,56	1523,2530,1906	AA,AG,GG		33.9922,25.0403,46.7864	benign,benign	244/1273,293/1321	39161464	5576,6342	1861	4098	5959	SO:0001583	missense	199223	exon8			GAACCCGAAAATC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.877G>A	3.37:g.39161464G>A	ENSP00000398211:p.Glu293Lys	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	186	9	0.0483871	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	959	0.4391025641025641	410	0.8333333333333334	133	0.3674033149171271	166	0.2902097902097902	250	0.32981530343007914	G	11.56	1.675769	0.29783	0.749597	0.339922	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.56941	0.43;0.43;2.34	5.67	3.86	0.44501	.	0.701416	0.13630	N	0.373771	T	0.00012	0.0000	N	0.02916	-0.46	0.47094	P	6.859999999999644E-4	B;B;B	0.27498	0.01;0.18;0.113	B;B;B	0.16722	0.004;0.016;0.007	T	0.39781	-0.9597	9	0.02654	T	1	-0.0123	15.4035	0.74861	0.0:0.7314:0.2686:0.0	rs1274971;rs17735053;rs57380373;rs1274971	244;293;293	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	293;285;293;244	ENSP00000301819:E293K;ENSP00000398211:E293K;ENSP00000410882:E244K	ENSP00000301819:E293K	E	+	1	0	TTC21A	39136468	0.956000	0.32656	0.881000	0.34555	0.486000	0.33341	1.922000	0.40045	0.746000	0.32786	-0.147000	0.13772	GAA	G|0.552;A|0.448	0.448	strong		0.443	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39161464	G	A	39161464	3	1	3	1	0	0	0	0	1	0	0	0	16684	1059	37	1	907	1	TTC21A	3	39161464	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8	39161464	158860966	94	533	13	2								
ULK4	54986	hgsc.bcm.edu	37	chr3	41952852	41952852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caattgaccctcaagagtacTcttaggccgaaactcagttg	8	11	3	2	rs35263917	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:41952852T>C	ENST00000301831.4	-	11	1504	c.1042A>G	c.(1042-1044)Agt>Ggt	p.S348G	ULK4_ENST00000420927.1_Missense_Mutation_p.S348G	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	348			S -> G (in dbSNP:rs35263917). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAAGAGTACTCTTAGGCCGA	0.343													T|||	421	0.0840655	0.0635	0.0908	5008	,	,		20625	0.002		0.166	False		,,,				2504	0.1074				p.S348G		Atlas-SNP	.											ULK4_ENST00000301831,colon,carcinoma,+1,2	ULK4	150	2	0			c.A1042G						scavenged	.	T	GLY/SER	283,3385		9,265,1560	94	88	90		1042	5.2	0.9	3	dbSNP_126	90	1227,6941		90,1047,2947	yes	missense	ULK4	NM_017886.2	56	99,1312,4507	CC,CT,TT		15.022,7.7154,12.7577	possibly-damaging	348/1276	41952852	1510,10326	1834	4084	5918	SO:0001583	missense	54986	exon11			GAGTACTCTTAGG	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1042A>G	3.37:g.41952852T>C	ENSP00000301831:p.Ser348Gly	Somatic	295	1	0.00338983		WXS	Illumina HiSeq	Phase_I	294	7	0.0238095	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	198	0.09065934065934066	31	0.06300813008130081	32	0.08839779005524862	2	0.0034965034965034965	133	0.17546174142480211	T	21.5	4.164150	0.78339	0.077154	0.15022	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.69040	0.42;-0.37	5.22	5.22	0.72569	.	0.707959	0.15193	N	0.275422	T	0.00300	0.0009	M	0.71581	2.175	0.09310	P	1.0	P	0.48911	0.917	B	0.43950	0.437	T	0.20907	-1.0261	9	0.62326	D	0.03	.	14.1258	0.65219	0.0:0.0:0.0:1.0	rs35263917;rs61740620	348	Q96C45	ULK4_HUMAN	G	348	ENSP00000301831:S348G;ENSP00000412187:S348G	ENSP00000301831:S348G	S	-	1	0	ULK4	41927856	1.000000	0.71417	0.918000	0.36340	0.766000	0.43426	5.411000	0.66386	1.979000	0.57680	0.529000	0.55759	AGT	T|0.887;C|0.113	0.113	strong		0.343	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41952852	T	C	41952852	3	2	3	1	0	0	0	0	1	0	0	0	16975	1551	54	3	2893	3	ULK4	3	41952852	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	2791388	41952852	156069578	95	534										
TGM4	7047	hgsc.bcm.edu	37	chr3	44943104	44943104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccatacaagtggacaggcaGtgccccgatcctgcagcagt	11	14	0	0	rs937838	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:44943104G>C	ENST00000296125.4	+	7	814	c.746G>C	c.(745-747)aGt>aCt	p.S249T	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	249			S -> T (in dbSNP:rs937838).		mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S249T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGGACAGGCAGTGCCCCGATC	0.567													G|||	352	0.0702875	0.0552	0.1225	5008	,	,		20649	0.0268		0.0855	False		,,,				2504	0.0828				p.S249T		Atlas-SNP	.											TGM4,NS,carcinoma,0,1	TGM4	82	1	1	Substitution - Missense(1)	stomach(1)	c.G746C						scavenged	.	G	THR/SER	263,4143	149.2+/-183.4	10,243,1950	119	108	112		746	2.8	0	3	dbSNP_86	112	781,7819	183.5+/-231.7	33,715,3552	yes	missense	TGM4	NM_003241.3	58	43,958,5502	CC,CG,GG		9.0814,5.9691,8.0271	probably-damaging	249/685	44943104	1044,11962	2203	4300	6503	SO:0001583	missense	7047	exon7			CAGGCAGTGCCCC	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.746G>C	3.37:g.44943104G>C	ENSP00000296125:p.Ser249Thr	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	120	4	0.0333333	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	149	0.06822344322344322	26	0.052845528455284556	43	0.11878453038674033	14	0.024475524475524476	66	0.0870712401055409	G	19.07	3.755813	0.69648	0.059691	0.090814	ENSG00000163810	ENST00000296125	T	0.57907	0.37	2.84	2.84	0.33178	.	0.000000	0.52532	U	0.000062	T	0.03651	0.0104	M	0.89904	3.07	0.20307	P	0.9999149955	D	0.76494	0.999	D	0.91635	0.999	T	0.61212	-0.7108	9	0.87932	D	0	.	14.4392	0.67303	0.0:0.0:1.0:0.0	rs937838;rs52797165;rs937838	249	P49221	TGM4_HUMAN	T	249	ENSP00000296125:S249T	ENSP00000296125:S249T	S	+	2	0	TGM4	44918108	1.000000	0.71417	0.002000	0.10522	0.015000	0.08874	8.226000	0.89785	1.523000	0.49018	0.563000	0.77884	AGT	G|0.924;C|0.076	0.076	strong		0.567	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		C	44943104	G	C	44943104	3	2	3	1	0	0	0	0	1	0	0	0	15829	1029	36	4	772	4	TGM4	3	44943104	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2990252	44943104	153079326	96	535										
SETD2	29072	hgsc.bcm.edu	37	chr3	47125385	47125385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgtgccgttgctctctttgGgctctatttcagcgtcagct	10	11	4	0	rs4082155	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:47125385G>A	ENST00000409792.3	-	12	5927	c.5885C>T	c.(5884-5886)cCc>cTc	p.P1962L	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1962			P -> L (in dbSNP:rs4082155). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.		angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.P1962L(1)|p.P1459L(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTCTTTGGGCTCTATTTC	0.453			"N, F, S, Mis"		clear cell renal carcinoma								G|||	2353	0.469848	0.236	0.5187	5008	,	,		21360	0.5327		0.5825	False		,,,				2504	0.5706				p.P1962L		Atlas-SNP	.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	SETD2_ENST00000409792,NS,carcinoma,0,2	SETD2	721	2	2	Substitution - Missense(2)	stomach(2)	c.C5885T						scavenged	.	G	LEU/PRO	1261,3145	433.1+/-343.5	201,859,1143	248	213	225		5885	2.9	1	3	dbSNP_108	225	4869,3731	618.1+/-396.7	1380,2109,811	yes	missense	SETD2	NM_014159.6	98	1581,2968,1954	AA,AG,GG		43.3837,28.6201,47.1321	benign	1962/2565	47125385	6130,6876	2203	4300	6503	SO:0001583	missense	29072	exon12			TCTTTGGGCTCTA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5885C>T	3.37:g.47125385G>A	ENSP00000386759:p.Pro1962Leu	Somatic	152	2	0.0131579		WXS	Illumina HiSeq	Phase_I	148	7	0.0472973	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	1082	0.49542124542124544	143	0.29065040650406504	194	0.5359116022099447	304	0.5314685314685315	441	0.5817941952506597	G	11.54	1.669445	0.29693	0.286201	0.566163	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.21932	1.98	5.69	2.94	0.34122	.	0.827297	0.10610	N	0.654637	T	0.00012	0.0000	N	0.14661	0.345	0.28580	P	0.9101621	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42207	-0.9465	9	0.13108	T	0.6	.	5.2839	0.15690	0.266:0.0:0.5927:0.1413	rs4082155;rs52814353;rs4082155	1962;1962	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1962	ENSP00000386759:P1962L	ENSP00000386759:P1962L	P	-	2	0	SETD2	47100389	0.764000	0.28473	0.986000	0.45419	0.925000	0.55904	0.529000	0.23019	0.333000	0.23563	-0.145000	0.13849	CCC	G|0.524;A|0.476	0.476	strong		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47125385	G	A	47125385	3	1	3	1	0	0	0	0	1	0	0	0	14131	1232	43	2	1849	2	SETD2	3	47125385	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2182281	47125385	150897045	97	536										
RNF123	63891	hgsc.bcm.edu	37	chr3	49751585	49751585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgaaaaccaaacttgaggaCgccaatttgcccagcctcca	7	14	0	2	rs2291542	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:49751585C>T	ENST00000327697.6	+	31	3132	c.2988C>T	c.(2986-2988)gaC>gaT	p.D996D	RNF123_ENST00000433785.1_Silent_p.D108D	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	996					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AACTTGAGGACGCCAATTTGC	0.597													C|||	1254	0.250399	0.2519	0.2061	5008	,	,		19901	0.1538		0.3091	False		,,,				2504	0.319				p.D996D		Atlas-SNP	.											RNF123,caecum,carcinoma,0,1	RNF123	100	1	0			c.C2988T						PASS	.	C		1113,3293	399.2+/-331.1	143,827,1233	90	90	90		2988	-4.6	0.9	3	dbSNP_100	90	2588,6012	421.6+/-353.8	391,1806,2103	no	coding-synonymous	RNF123	NM_022064.2		534,2633,3336	TT,TC,CC		30.093,25.261,28.4561		996/1315	49751585	3701,9305	2203	4300	6503	SO:0001819	synonymous_variant	63891	exon31			TGAGGACGCCAAT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2988C>T	3.37:g.49751585C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																			C|0.736;T|0.264	0.264	strong		0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		T	49751585	C	T	49751585	2	4	3	1	0	0	0	0	0	0	0	1	13433	535	19	1		1	RNF123	3	49751585	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2626200	49751585	148270845	98	537										
CAMKV	79012	hgsc.bcm.edu	37	chr3	49898273	49898273	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acctcctcatagaaaggtggAttgcctgaaagcctgcatgg	11	10	1	2	rs2681781	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:49898273A>G	ENST00000477224.1	-	8	1129	c.651T>C	c.(649-651)aaT>aaC	p.N217N	RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Silent_p.N142N|CAMKV_ENST00000466940.1_Silent_p.N174N|CAMKV_ENST00000296471.7_Silent_p.N189N|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000463537.1_Silent_p.N217N|CAMKV_ENST00000488336.1_Silent_p.N217N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGAAAGGTGGATTGCCTGAAA	0.507													G|||	2019	0.403155	0.6914	0.3703	5008	,	,		16605	0.1448		0.4911	False		,,,				2504	0.2127				p.N217N		Atlas-SNP	.											.	CAMKV	84	.	0			c.T651C						PASS	.	G		2797,1609	497.6+/-363.9	894,1009,300	154	157	156		651	0.7	1	3	dbSNP_100	156	4271,4329	579.4+/-390.9	1060,2151,1089	no	coding-synonymous	CAMKV	NM_024046.3		1954,3160,1389	GG,GA,AA		49.6628,36.5184,45.6559		217/502	49898273	7068,5938	2203	4300	6503	SO:0001819	synonymous_variant	79012	exon8			AGGTGGATTGCCT	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.651T>C	3.37:g.49898273A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_024046	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	CCDS33762.1																																																																																			A|0.515;G|0.485	0.485	strong		0.507	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		G	49898273	A	G	49898273	2	3	3	1	0	0	0	0	0	0	0	1	2608	330	12	2		2	CAMKV	3	49898273	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	146688	49898273	148124157	99	538										
SLC25A26	115286	hgsc.bcm.edu	37	chr3	66293688	66293688	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgcatgctgattcatcttcAtatttgacacctatgaaaca	5	9	3	3	rs3772197	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:66293688A>G	ENST00000354883.6	+	4	980	c.252A>G	c.(250-252)tcA>tcG	p.S84S	SLC25A26_ENST00000413054.1_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_5'UTR			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	84					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)	p.S84S(1)		endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ATTCATCTTCATATTTGACAC	0.343													A|||	287	0.0573083	0.0295	0.0548	5008	,	,		15466	0.0377		0.0746	False		,,,				2504	0.0992				p.S84S		Atlas-SNP	.											SLC25A26,NS,carcinoma,0,1	SLC25A26	12	1	1	Substitution - coding silent(1)	stomach(1)	c.A252G						scavenged	.	A	,	181,4225	116.7+/-154.6	5,171,2027	160	159	159		,252	-9.6	0.1	3	dbSNP_107	159	619,7981	161.0+/-214.0	15,589,3696	no	utr-5,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	20,760,5723	GG,GA,AA		7.1977,4.108,6.151	,	,84/275	66293688	800,12206	2203	4300	6503	SO:0001819	synonymous_variant	115286	exon4			ATCTTCATATTTG	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"Solute carriers"	20661	protein-coding gene	gene with protein product		611037	"solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000354883.6:c.252A>G	3.37:g.66293688A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	79	3	0.0379747	NM_173471	A8K758|B3KRZ7|Q7Z786|Q96E68	Silent	SNP	ENST00000354883.6	37	CCDS2905.2	138	0.06318681318681318	23	0.046747967479674794	33	0.09116022099447514	30	0.05244755244755245	52	0.06860158311345646	A	5.590	0.293637	0.10567	0.04108	0.071977	ENSG00000144741	ENST00000413054	.	.	.	5.67	-9.63	0.00544	.	.	.	.	.	T	0.00580	0.0019	.	.	.	0.09310	P	0.9999999999221516	.	.	.	.	.	.	T	0.15867	-1.0422	3	.	.	.	-28.0729	4.8763	0.13658	0.1925:0.3735:0.3461:0.0879	rs3772197;rs17823209;rs56630729;rs3772197	.	.	.	R	21	.	.	H	+	2	0	SLC25A26	66376379	0.000000	0.05858	0.121000	0.21740	0.526000	0.34562	-1.203000	0.03019	-0.938000	0.03714	-0.441000	0.05720	CAT	A|0.941;G|0.059	0.059	strong		0.343	SLC25A26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313894.2	NM_173471		G	66293688	A	G	66293688	2	3	3	1	0	0	0	0	0	0	0	1	14489	204	8	2		2	SLC25A26	3	66293688	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	16395415	66293688	131728742	100	539										
FAM55C	91775	hgsc.bcm.edu	37	chr3	101540387	101540387	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtctttagcaatgagctccaTtatgtggcgaatgagctgaa	11	7	1	3	rs35598292	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:101540387T>G	ENST00000491511.2	+	8	2225	c.1269T>G	c.(1267-1269)caT>caG	p.H423Q	NXPE3_ENST00000273347.5_Missense_Mutation_p.H423Q|NXPE3_ENST00000477909.1_Missense_Mutation_p.H423Q|NXPE3_ENST00000422132.1_Missense_Mutation_p.H423Q|RP11-49I4.3_ENST00000490324.2_RNA	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	423						extracellular region (GO:0005576)											ATGAGCTCCATTATGTGGCGA	0.512													T|||	57	0.0113818	0.0	0.0231	5008	,	,		20493	0.001		0.0368	False		,,,				2504	0.0031				p.H423Q		Atlas-SNP	.											.	.	.	.	0			c.T1269G						PASS	.	T	GLN/HIS,GLN/HIS	34,4372	39.2+/-71.8	0,34,2169	130	98	109		1269,1269	-5	0.1	3	dbSNP_126	109	404,8196	128.5+/-186.7	11,382,3907	yes	missense,missense	FAM55C	NM_001134456.1,NM_145037.2	24,24	11,416,6076	GG,GT,TT		4.6977,0.7717,3.3677	benign,benign	423/560,423/560	101540387	438,12568	2203	4300	6503	SO:0001583	missense	91775	exon8			GCTCCATTATGTG	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1269T>G	3.37:g.101540387T>G	ENSP00000417485:p.His423Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	96	4	0.0416667	NM_145037	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	33	0.01510989010989011	0	0.0	10	0.027624309392265192	0	0.0	23	0.030343007915567283	T	9.492	1.100921	0.20552	0.007717	0.046977	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.83	-4.96	0.03038	.	0.366329	0.36066	N	0.002814	T	0.02230	0.0069	L	0.46157	1.445	0.19945	N	0.999941	B	0.26258	0.145	B	0.23419	0.046	T	0.29822	-0.9999	10	0.15066	T	0.55	-0.2416	9.7523	0.40483	0.2155:0.5939:0.0:0.1906	rs35598292;rs35598292	423	Q969Y0	FA55C_HUMAN	Q	423	ENSP00000273347:H423Q;ENSP00000417485:H423Q;ENSP00000418369:H423Q;ENSP00000396421:H423Q	ENSP00000273347:H423Q	H	+	3	2	FAM55C	103023077	0.014000	0.17966	0.084000	0.20598	0.359000	0.29487	-0.414000	0.07114	-0.655000	0.05387	-0.899000	0.02877	CAT	T|0.974;G|0.026	0.026	strong		0.512	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		G	101540387	T	G	101540387	3	3	3	1	0	0	0	0	1	0	0	0	5586	1490	52	5	1287	5	FAM55C	3	101540387	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	35246699	101540387	96482043	101	540										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108639384	108639384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgctccattttttcttgcaTgattagatttacagcagcaa	6	8	1	2	rs6804162	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:108639384T>C	ENST00000261047.3	-	2	385	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.M85V|GUCA1C_ENST00000471108.1_Missense_Mutation_p.M85V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		M -> V (in dbSNP:rs6804162).		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTTTCTTGCATGATTAGATTT	0.289													C|||	1688	0.337061	0.438	0.2522	5008	,	,		18067	0.25		0.3807	False		,,,				2504	0.3057				p.M85V	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.A253G						PASS	.	C	VAL/MET	1844,2562	630.5+/-395.5	393,1058,752	77	74	75		253	3.1	0	3	dbSNP_116	75	3062,5534	657.8+/-401.5	548,1966,1784	yes	missense	GUCA1C	NM_005459.3	21	941,3024,2536	CC,CT,TT		35.6212,41.852,37.7327	benign	85/210	108639384	4906,8096	2203	4298	6501	SO:0001583	missense	9626	exon2			CTTGCATGATTAG	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.253A>G	3.37:g.108639384T>C	ENSP00000261047:p.Met85Val	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	307	13	0.0423453	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	741	0.3392857142857143	205	0.4166666666666667	93	0.2569060773480663	143	0.25	300	0.39577836411609496	C	6.052	0.377909	0.11466	0.41852	0.356212	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.40476	1.03;1.03;1.03	5.17	3.1	0.35709	EF-hand-like domain (1);	0.215490	0.39909	N	0.001229	T	0.00012	0.0000	N	0.11255	0.115	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44757	-0.9307	9	0.06236	T	0.91	.	2.791	0.05388	0.2015:0.4347:0.0:0.3638	rs6804162;rs52828740;rs56507439;rs56791641;rs6804162	85;85	C9JNI2;O95843	.;GUC1C_HUMAN	V	85	ENSP00000377535:M85V;ENSP00000261047:M85V;ENSP00000417761:M85V	ENSP00000261047:M85V	M	-	1	0	GUCA1C	110122074	0.009000	0.17119	0.005000	0.12908	0.729000	0.41735	-0.034000	0.12225	0.598000	0.29829	-0.186000	0.12905	ATG	T|0.647;C|0.353	0.353	strong		0.289	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		C	108639384	T	C	108639384	3	2	3	1	0	0	0	0	1	0	0	0	6890	1464	51	2	388	2	GUCA1C	3	108639384	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	7098997	108639384	89383046	102	541										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108639423	108639423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aataaactccaaaaagtcaaCaaatccatcctatggaaagt	4	9	1	0	rs2715687	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:108639423C>T	ENST00000261047.3	-	2	346	c.214G>A	c.(214-216)Gtt>Att	p.V72I	GUCA1C_ENST00000393963.3_Missense_Mutation_p.V72I|GUCA1C_ENST00000471108.1_Missense_Mutation_p.V72I	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		V -> I (in dbSNP:rs2715687). {ECO:0000269|PubMed:10037746}.		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AAAAAGTCAACAAATCCATCC	0.303													T|||	3113	0.621605	0.7057	0.6268	5008	,	,		18843	0.379		0.7237	False		,,,				2504	0.6493				p.V72I	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.G214A						PASS	.	T	ILE/VAL	3123,1283	423.4+/-340.1	1094,935,174	51	49	50		214	4	1	3	dbSNP_100	50	6030,2562	408.7+/-349.6	2127,1776,393	yes	missense	GUCA1C	NM_005459.3	29	3221,2711,567	TT,TC,CC		29.8184,29.1194,29.5815	benign	72/210	108639423	9153,3845	2203	4296	6499	SO:0001583	missense	9626	exon2			AGTCAACAAATCC	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.214G>A	3.37:g.108639423C>T	ENSP00000261047:p.Val72Ile	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	252	11	0.0436508	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	1347	0.6167582417582418	347	0.7052845528455285	233	0.643646408839779	205	0.3583916083916084	562	0.741424802110818	T	1.402	-0.577954	0.03854	0.708806	0.701816	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.76186	-1.0;-1.0;-1.0	5.17	4.0	0.46444	EF-hand-like domain (1);	0.101830	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00608	-1.33	0.52501	P	4.999999999999449E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46582	-0.9181	9	0.02654	T	1	.	8.2139	0.31499	0.0:0.1685:0.0:0.8315	rs2715687;rs3749284;rs52812479;rs61275317;rs2715687	72;72	C9JNI2;O95843	.;GUC1C_HUMAN	I	72	ENSP00000377535:V72I;ENSP00000261047:V72I;ENSP00000417761:V72I	ENSP00000261047:V72I	V	-	1	0	GUCA1C	110122113	1.000000	0.71417	0.998000	0.56505	0.624000	0.37722	4.443000	0.59994	0.302000	0.22762	-0.332000	0.08345	GTT	C|0.337;T|0.662	0.662	strong		0.303	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		T	108639423	C	T	108639423	3	4	3	1	0	0	0	0	1	0	0	0	6890	478	17	2	427	2	GUCA1C	3	108639423	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	39	108639423	89383007	103	542										
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376116	113376116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgttgttgttgctgttgctgCtgctgctgctgctgctgctg	14	9	0	0	rs112313093|rs59601191		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																					p.Q1471Q		Atlas-SNP	.											.	KIAA2018	180	.	0			c.G4413A						PASS	.						63	72	69					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	205717	exon7			TTGCTGCTGCTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	28	10	0.357143	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.	.	none		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376116	C	T	113376116	2	4	3	1	0	0	0	0	0	0	0	1	8268	796	28	2		2	KIAA2018	3	113376116	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	4736693	113376116	84646314	104	543										
GPR156	165829	hgsc.bcm.edu	37	chr3	119892302	119892302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttggttttcctcttcaaatgCcttccattgcttcagctgtt	6	11	3	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:119892302C>A	ENST00000464295.1	-	9	1394	c.949G>T	c.(949-951)Gca>Tca	p.A317S	GPR156_ENST00000315843.3_Missense_Mutation_p.A317S|GPR156_ENST00000461057.1_Missense_Mutation_p.A313S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.A317S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTTCAAATGCCTTCCATTGC	0.398																																					p.A317S		Atlas-SNP	.											GPR156,rectum,carcinoma,0,1	GPR156	85	1	1	Substitution - Missense(1)	large_intestine(1)	c.G949T						PASS	.						203	183	189					3																	119892302		2203	4300	6503	SO:0001583	missense	165829	exon8			CAAATGCCTTCCA	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.949G>T	3.37:g.119892302C>A	ENSP00000417261:p.Ala317Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	109	36	0.330275	NM_153002	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866726	0.32977	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.23348	1.91;1.91;1.91	5.48	3.58	0.41010	.	0.317821	0.27792	N	0.017826	T	0.23806	0.0576	M	0.67953	2.075	0.27786	N	0.942993	P;P	0.35077	0.483;0.483	B;B	0.30943	0.122;0.122	T	0.13019	-1.0525	9	.	.	.	-5.8605	8.9517	0.35792	0.0:0.6408:0.2041:0.1551	.	313;317	E9PFZ4;Q8NFN8	.;GP156_HUMAN	S	317;317;313	ENSP00000417261:A317S;ENSP00000324553:A317S;ENSP00000418758:A313S	.	A	-	1	0	GPR156	121374992	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.641000	0.24720	1.324000	0.45282	0.462000	0.41574	GCA	.	.	none		0.398	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		A	119892302	C	A	119892302	3	1	3	1	0	0	0	0	1	0	0	0	6661	739	26	4	1503	4	GPR156	3	119892302	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6516186	119892302	78130128	105	544										
PARP9	83666	hgsc.bcm.edu	37	chr3	122247336	122247347	+	In_Frame_Del	DEL	TAGCCTGCATGC	TAGCCTGCATGC	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtccacaaatactgaggtaTagcctgcatgccactaaaaa							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	TAGCCTGCATGC	TAGCCTGCATGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:122247336_122247347delTAGCCTGCATGC	ENST00000360356.2	-	11	2656_2667	c.2429_2440delGCATGCAGGCTA	c.(2428-2442)ggcatgcaggctata>gta	p.810_814GMQAI>V	PARP9_ENST00000471785.1_In_Frame_Del_p.775_779GMQAI>V|PARP9_ENST00000492382.1_In_Frame_Del_p.355_359GMQAI>V|PARP9_ENST00000477522.2_In_Frame_Del_p.775_779GMQAI>V	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	810	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TACTGAGGTATAGCCTGCATGCCACTAAAAAT	0.453																																					p.810_814del		Pindel	.											.	PARP9	72	.	0			c.2430_2441del						PASS	.																																			SO:0001651	inframe_deletion	83666	exon11			.	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2429_2440delGCATGCAGGCTA	3.37:g.122247336_122247347delTAGCCTGCATGC	ENSP00000353512:p.Gly810_Ile814delinsVal	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	26	26	1	NM_001146102	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	In_Frame_Del	DEL	ENST00000360356.2	37	CCDS3014.1																																																																																			.	.	none		0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		-	122247347	TAGCCTGCATGC	-	122247336	7	5	3	1	0	1	0	1	0	0	0	0	11466	1406	49	0	128	0	PARP9	3	122247336	In_Frame_Del	DEL	TAGCCTGCATGC	TCGA-FA-A4XK-01A-11D-A31X-10	2355034	122247336	75775094	106	545	14	3								
PARP9	83666	hgsc.bcm.edu	37	chr3	122247338	122247343	+	In_Frame_Del	DEL	GCCTGC	GCCTGC	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccacaaatactgaggtataGcctgcatgccactaaaaata							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	GCCTGC	GCCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:122247338_122247343delGCCTGC	ENST00000360356.2	-	11	2660_2665	c.2433_2438delGCAGGC	c.(2431-2439)atgcaggct>att	p.811_813MQA>I	PARP9_ENST00000471785.1_In_Frame_Del_p.776_778MQA>I|PARP9_ENST00000492382.1_In_Frame_Del_p.356_358MQA>I|PARP9_ENST00000477522.2_In_Frame_Del_p.776_778MQA>I	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	811	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGAGGTATAGCCTGCATGCCACTAA	0.466																																					p.812_813del		Atlas-Indel	.											.	PARP9	72	.	0			c.2434_2439del						PASS	.																																			SO:0001651	inframe_deletion	83666	exon11			.	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2433_2438delGCAGGC	3.37:g.122247338_122247343delGCCTGC	ENSP00000353512:p.Met811_Ala813delinsIle	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	115	26	0.226087	NM_001146102	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	In_Frame_Del	DEL	ENST00000360356.2	37	CCDS3014.1																																																																																			.	.	none		0.466	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		-	122247343	GCCTGC	-	122247338	7	5	3	1	0	1	0	1	0	0	0	0	11466	971	34	0	130	0	PARP9	3	122247338	In_Frame_Del	DEL	GCCTGC	TCGA-FA-A4XK-01A-11D-A31X-10	2	122247338	75775092	107	546	14	3								
PARP9	83666	hgsc.bcm.edu	37	chr3	122247346	122247346	+	Frame_Shift_Del	DEL	G	G	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tactgaggtatagcctgcatGccactaaaaataacaaaggt							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:122247346delG	ENST00000360356.2	-	11	2657	c.2430delC	c.(2428-2430)ggcfs	p.G810fs	PARP9_ENST00000471785.1_Frame_Shift_Del_p.G775fs|PARP9_ENST00000492382.1_Frame_Shift_Del_p.G355fs|PARP9_ENST00000477522.2_Frame_Shift_Del_p.G775fs	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	810	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TAGCCTGCATGCCACTAAAAA	0.448																																					p.M811fs		Atlas-Indel	.											.	PARP9	72	.	0			c.2431delA						PASS	.						125	111	116					3																	122247346		2203	4300	6503	SO:0001589	frameshift_variant	83666	exon11			.	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2430delC	3.37:g.122247346delG	ENSP00000353512:p.Gly810fs	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	120	28	0.233333	NM_001146102	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Frame_Shift_Del	DEL	ENST00000360356.2	37	CCDS3014.1																																																																																			.	.	none		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		-	122247346	G	-	122247346	7	5	3	1	0	1	0	1	0	0	0	0	11466	1306	46	0	138	0	PARP9	3	122247346	Frame_Shift_Del	DEL	G	TCGA-FA-A4XK-01A-11D-A31X-10	8	122247346	75775084	108	547	14	3								
PPP2R3A	5523	hgsc.bcm.edu	37	chr3	135722264	135722264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaatttatcagtctgtagaAgtcctgttggtgataaagcc	9	8	2	2	rs17197552	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:135722264A>G	ENST00000264977.3	+	2	2541	c.1924A>G	c.(1924-1926)Agt>Ggt	p.S642G	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	642			S -> G (in dbSNP:rs17197552).		eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTCTGTAGAAGTCCTGTTGG	0.423													A|||	865	0.172724	0.1505	0.1412	5008	,	,		17582	0.0288		0.2783	False		,,,				2504	0.2648				p.S642G		Atlas-SNP	.											.	PPP2R3A	114	.	0			c.A1924G						PASS	.	A	,GLY/SER	770,3634	291.0+/-281.2	64,642,1496	82	77	79		,1924	3.5	1	3	dbSNP_123	79	2708,5892	418.8+/-352.9	415,1878,2007	yes	intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4	,56	479,2520,3503	GG,GA,AA		31.4884,17.4841,26.7456	,benign	,642/1151	135722264	3478,9526	2202	4300	6502	SO:0001583	missense	5523	exon2			TGTAGAAGTCCTG	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1924A>G	3.37:g.135722264A>G	ENSP00000264977:p.Ser642Gly	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	211	11	0.0521327	NM_002718	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	340	0.15567765567765568	66	0.13414634146341464	57	0.1574585635359116	13	0.022727272727272728	204	0.2691292875989446	A	9.126	1.010279	0.19277	0.174841	0.314884	ENSG00000073711	ENST00000264977	T	0.06218	3.33	5.83	3.47	0.39725	.	0.643751	0.17330	N	0.178150	T	0.00012	0.0000	N	0.24115	0.695	0.09310	P	0.999999999742355	B	0.02656	0.0	B	0.04013	0.001	T	0.47636	-0.9102	9	0.44086	T	0.13	.	8.2194	0.31532	0.8457:0.0:0.1543:0.0	rs17197552;rs52827295;rs17197552	642	Q06190	P2R3A_HUMAN	G	642	ENSP00000264977:S642G	ENSP00000264977:S642G	S	+	1	0	PPP2R3A	137204954	0.878000	0.30173	0.996000	0.52242	0.962000	0.63368	1.520000	0.35899	0.481000	0.27557	0.460000	0.39030	AGT	A|0.779;G|0.221	0.221	strong		0.423	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		G	135722264	A	G	135722264	3	3	3	1	0	0	0	0	1	0	0	0	12388	72	3	3	1926	3	PPP2R3A	3	135722264	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	13474918	135722264	62300166	109	548										
PRR23C	389152	hgsc.bcm.edu	37	chr3	138762875	138762875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgggggccagagcacagggCcctcggatggggccctcccg	17	14	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:138762875C>T	ENST00000413199.1	-	1	859	c.588G>A	c.(586-588)ggG>ggA	p.G196G	PRR23C_ENST00000502927.2_Silent_p.G196G|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	196	Pro-rich.									breast(2)|lung(7)|skin(2)	11						GAGCACAGGGCCCTCGGATGG	0.652																																					p.G196G		Atlas-SNP	.											.	PRR23C	31	.	0			c.G588A						PASS	.						37	44	42					3																	138762875		692	1591	2283	SO:0001819	synonymous_variant	389152	exon1			ACAGGGCCCTCGG		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.588G>A	3.37:g.138762875C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	94	39	0.414894	NM_001134657		Silent	SNP	ENST00000413199.1	37	CCDS46924.1																																																																																			.	.	none		0.652	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		T	138762875	C	T	138762875	2	4	3	1	0	0	0	0	0	0	0	1	12596	726	26	2		2	PRR23C	3	138762875	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	3040611	138762875	59259555	110	549										
ATR	545	hgsc.bcm.edu	37	chr3	142277575	142277575	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atccatggaagtgagagcatAccacataaatcttccaggat	8	9	1	1	rs2227930	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:142277575A>T	ENST00000350721.4	-	8	1897	c.1776T>A	c.(1774-1776)ggT>ggA	p.G592G	ATR_ENST00000383101.3_Silent_p.G528G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	592					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G592G(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGAGAGCATACCACATAAAT	0.333								Other conserved DNA damage response genes					T|||	2995	0.598043	0.8533	0.5058	5008	,	,		12509	0.4732		0.5865	False		,,,				2504	0.4591				p.G592G		Atlas-SNP	.											ATR,NS,carcinoma,0,1	ATR	285	1	1	Substitution - coding silent(1)	stomach(1)	c.T1776A						scavenged	.	T		3506,900	347.2+/-309.4	1397,712,94	205	217	213		1776	1.8	1	3	dbSNP_98	213	5117,3483	510.5+/-377.5	1497,2123,680	no	coding-synonymous	ATR	NM_001184.3		2894,2835,774	TT,TA,AA		40.5,20.4267,33.6998		592/2645	142277575	8623,4383	2203	4300	6503	SO:0001819	synonymous_variant	545	exon8			GAGCATACCACAT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1776T>A	3.37:g.142277575A>T		Somatic	265	2	0.00754717		WXS	Illumina HiSeq	Phase_I	279	11	0.0394265	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																			A|0.359;T|0.641	0.641	strong		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142277575	A	T	142277575	2	4	3	1	0	0	0	0	0	0	0	1	1204	378	14	5		5	ATR	3	142277575	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3514700	142277575	55744855	111	550										
CPB1	1360	hgsc.bcm.edu	37	chr3	148562310	148562310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccaagtgacagagcttctcGacaagttagacttttatgtc	8	9	1	3	rs1059502	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:148562310G>A	ENST00000491148.1	+	8	956	c.622G>A	c.(622-624)Gac>Aac	p.D208N	CPB1_ENST00000282957.4_Missense_Mutation_p.D208N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	208			D -> N (in dbSNP:rs1059502). {ECO:0000269|PubMed:9524066}.			extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAGCTTCTCGACAAGTTAGA	0.413													G|||	1353	0.270168	0.3495	0.1412	5008	,	,		16749	0.2956		0.2048	False		,,,				2504	0.2955				p.D208N		Atlas-SNP	.											.	CPB1	74	.	0			c.G622A						PASS	.	G	ASN/ASP	1358,3048	452.4+/-350.0	197,964,1042	111	91	98		622	-2.8	0	3	dbSNP_86	98	1769,6831	320.3+/-314.5	169,1431,2700	yes	missense	CPB1	NM_001871.2	23	366,2395,3742	AA,AG,GG		20.5698,30.8216,24.0427	benign	208/418	148562310	3127,9879	2203	4300	6503	SO:0001583	missense	1360	exon7			CTTCTCGACAAGT	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.622G>A	3.37:g.148562310G>A	ENSP00000417222:p.Asp208Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	102	5	0.0490196	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	518	0.23717948717948717	166	0.33739837398373984	52	0.143646408839779	139	0.243006993006993	161	0.21240105540897097	G	0.010	-1.761315	0.00657	0.308216	0.205698	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.32515	1.45;1.45;1.45	5.78	-2.76	0.05896	Peptidase M14, carboxypeptidase A (2);	0.697197	0.15191	N	0.275529	T	0.00012	0.0000	N	0.25094	0.71	0.58432	P	1.999999999946489E-6	B	0.12013	0.005	B	0.14023	0.01	T	0.42616	-0.9441	9	0.07482	T	0.82	.	10.2126	0.43150	0.3714:0.0838:0.5448:0.0	rs1059502;rs3200197;rs56471857;rs60324209;rs1059502	208	P15086	CBPB1_HUMAN	N	208;208;174	ENSP00000417222:D208N;ENSP00000282957:D208N;ENSP00000419427:D174N	ENSP00000282957:D208N	D	+	1	0	CPB1	150045000	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.672000	0.05244	-0.671000	0.05274	-2.480000	0.00198	GAC	G|0.743;A|0.257	0.257	strong		0.413	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		A	148562310	G	A	148562310	3	1	3	1	0	0	0	0	1	0	0	0	3796	1058	37	1	648	1	CPB1	3	148562310	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	6284735	148562310	49460120	112	551										
P2RY1	5028	hgsc.bcm.edu	37	chr3	152554357	152554357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agaaaatcgatttacctggtAatcattgtactgactgtttt	7	6	1	2	rs701265	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:152554357A>G	ENST00000305097.3	+	1	1622	c.786A>G	c.(784-786)gtA>gtG	p.V262V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	262					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TTTACCTGGTAATCATTGTAC	0.433													G|||	1830	0.365415	0.7852	0.2651	5008	,	,		19943	0.248		0.163	False		,,,				2504	0.1984				p.V262V		Atlas-SNP	.											.	P2RY1	49	.	0			c.A786G						PASS	.	G		2983,1423	463.6+/-353.6	1010,963,230	109	107	108		786	-0.1	1	3	dbSNP_86	108	1271,7329	760.5+/-407.6	87,1097,3116	no	coding-synonymous	P2RY1	NM_002563.2		1097,2060,3346	GG,GA,AA		14.7791,32.2969,32.708		262/374	152554357	4254,8752	2203	4300	6503	SO:0001819	synonymous_variant	5028	exon1			CCTGGTAATCATT	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.786A>G	3.37:g.152554357A>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	110	7	0.0636364	NM_002563		Silent	SNP	ENST00000305097.3	37	CCDS3169.1																																																																																			A|0.653;G|0.347	0.347	strong		0.433	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		G	152554357	A	G	152554357	2	3	3	1	0	0	0	0	0	0	0	1	11346	349	13	2		2	P2RY1	3	152554357	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3992047	152554357	45468073	113	552										
SPATA16	83893	hgsc.bcm.edu	37	chr3	172835125	172835125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaactcatagcgaacacccaTttcatcaatgtagaccaact	4	12	3	1	rs1515442	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:172835125T>C	ENST00000351008.3	-	2	580	c.397A>G	c.(397-399)Atg>Gtg	p.M133V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	133			M -> V (in dbSNP:rs1515442). {ECO:0000269|PubMed:17665087}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CGAACACCCATTTCATCAATG	0.413													C|||	2146	0.428514	0.7247	0.3055	5008	,	,		22397	0.374		0.2465	False		,,,				2504	0.3589				p.M133V		Atlas-SNP	.											SPATA16,NS,carcinoma,+2,1	SPATA16	111	1	0			c.A397G						scavenged	.	C	VAL/MET	2875,1531	484.4+/-360.0	951,973,279	291	266	274		397	5.7	1	3	dbSNP_88	274	2381,6219	701.5+/-405.2	336,1709,2255	yes	missense	SPATA16	NM_031955.5	21	1287,2682,2534	CC,CT,TT		27.686,34.7481,40.4121	benign	133/570	172835125	5256,7750	2203	4300	6503	SO:0001583	missense	83893	exon2			CACCCATTTCATC	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.397A>G	3.37:g.172835125T>C	ENSP00000341765:p.Met133Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	108	3	0.0277778	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	866	0.3965201465201465	336	0.6829268292682927	108	0.2983425414364641	233	0.40734265734265734	189	0.24934036939313983	C	4.300	0.054895	0.08291	0.652519	0.27686	ENSG00000144962	ENST00000351008	T	0.13901	2.55	5.67	5.67	0.87782	.	0.221006	0.31335	N	0.007839	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.37606	T	0.19	-8.0923	9.6819	0.40076	0.0:0.7837:0.1403:0.0761	rs1515442;rs52810826;rs57404795;rs1515442	133	Q9BXB7	SPT16_HUMAN	V	133	ENSP00000341765:M133V	ENSP00000341765:M133V	M	-	1	0	SPATA16	174317819	1.000000	0.71417	0.970000	0.41538	0.167000	0.22549	1.498000	0.35660	1.405000	0.46838	-0.227000	0.12334	ATG	T|0.604;C|0.396	0.396	strong		0.413	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		C	172835125	T	C	172835125	3	2	3	1	0	0	0	0	1	0	0	0	15000	1493	52	2	1352	2	SPATA16	3	172835125	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	20280768	172835125	25187305	114	553										
TTC14	151613	hgsc.bcm.edu	37	chr3	180326574	180326574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aacaagtgcagaaaagttgcGtaagctcttaaaagaagaga	10	5	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:180326574G>A	ENST00000296015.4	+	11	1508	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.R459H	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	459							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAAAAGTTGCGTAAGCTCTTA	0.323																																					p.R459H		Atlas-SNP	.											TTC14,colon,carcinoma,+1,1	TTC14	112	1	0			c.G1376A						scavenged	.																																			SO:0001583	missense	151613	exon11			AGTTGCGTAAGCT	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1376G>A	3.37:g.180326574G>A	ENSP00000296015:p.Arg459His	Somatic	406	0	0		WXS	Illumina HiSeq	Phase_I	328	6	0.0182927	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402430	0.62288	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.43294	0.95;2.17	5.66	5.66	0.87406	.	0.051989	0.85682	D	0.000000	T	0.63379	0.2506	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.745	T	0.64952	-0.6286	10	0.72032	D	0.01	-9.9043	19.3428	0.94350	0.0:0.0:1.0:0.0	.	459;459	Q96N46-2;Q96N46	.;TTC14_HUMAN	H	459	ENSP00000296015:R459H;ENSP00000372027:R459H	ENSP00000296015:R459H	R	+	2	0	TTC14	181809268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.802000	0.91910	2.663000	0.90544	0.655000	0.94253	CGT	.	.	none		0.323	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		A	180326574	G	A	180326574	3	1	3	1	0	0	0	0	1	0	0	0	16678	1145	40	1	1448	1	TTC14	3	180326574	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	7491449	180326574	17695856	115	554										
LAMP3	27074	hgsc.bcm.edu	37	chr3	182871600	182871600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caagggtgggcccaggaaccGtggaggcaggtgcagctgtg	19	9	0	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:182871600G>T	ENST00000265598.3	-	2	884	c.629C>A	c.(628-630)aCg>aAg	p.T210K	LAMP3_ENST00000466939.1_Missense_Mutation_p.T186K	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	210	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T210M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CCCAGGAACCGTGGAGGCAGG	0.557																																					p.T210K		Atlas-SNP	.											LAMP3,NS,carcinoma,0,1	LAMP3	48	1	1	Substitution - Missense(1)	kidney(1)	c.C629A						scavenged	.						101	100	100					3																	182871600		2203	4300	6503	SO:0001583	missense	27074	exon2			GGAACCGTGGAGG	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.629C>A	3.37:g.182871600G>T	ENSP00000265598:p.Thr210Lys	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	131	3	0.0229008	NM_014398	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	16.71	3.198085	0.58126	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.35789	1.29;1.29	5.81	-3.86	0.04230	.	1.431570	0.04239	N	0.336618	T	0.37812	0.1017	L	0.56769	1.78	0.09310	N	1	P	0.39920	0.695	B	0.42916	0.402	T	0.45131	-0.9282	10	0.51188	T	0.08	4.6752	7.935	0.29925	0.5882:0.1196:0.2922:0.0	.	210	Q9UQV4	LAMP3_HUMAN	K	210;186	ENSP00000265598:T210K;ENSP00000418912:T186K	ENSP00000265598:T210K	T	-	2	0	LAMP3	184354294	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.123000	0.10611	-1.317000	0.02292	-0.136000	0.14681	ACG	.	.	none		0.557	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			T	182871600	G	T	182871600	3	4	3	1	0	0	0	0	1	0	0	0	8619	1145	40	4	641	4	LAMP3	3	182871600	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2545026	182871600	15150830	116	555										
YEATS2	55689	hgsc.bcm.edu	37	chr3	183476685	183476685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agatctccacggcttctcagGtctcccaaggaacaggttcc	9	14	3	1	rs262993	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:183476685G>A	ENST00000305135.5	+	13	1783	c.1588G>A	c.(1588-1590)Gtc>Atc	p.V530I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	530			V -> I (in dbSNP:rs262993).		chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGCTTCTCAGGTCTCCCAAGG	0.363													G|||	2132	0.425719	0.261	0.4467	5008	,	,		18474	0.5188		0.4533	False		,,,				2504	0.5092				p.V530I		Atlas-SNP	.											YEATS2,NS,carcinoma,-1,1	YEATS2	111	1	0			c.G1588A						scavenged	.	G	ILE/VAL	1039,2615		149,741,937	129	118	121		1588	4.2	1	3	dbSNP_79	121	3602,4572		784,2034,1269	yes	missense	YEATS2	NM_018023.4	29	933,2775,2206	AA,AG,GG		44.0666,28.4346,39.2374	benign	530/1423	183476685	4641,7187	1827	4087	5914	SO:0001583	missense	55689	exon13			TCTCAGGTCTCCC	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1588G>A	3.37:g.183476685G>A	ENSP00000306983:p.Val530Ile	Somatic	445	0	0		WXS	Illumina HiSeq	Phase_I	423	7	0.0165485	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	927	0.42445054945054944	117	0.23780487804878048	164	0.4530386740331492	309	0.5402097902097902	337	0.4445910290237467	G	16.01	3.001348	0.54254	0.284346	0.440666	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.28895	1.59	5.22	4.15	0.48705	.	0.448888	0.20667	N	0.087912	T	0.00012	0.0000	N	0.08118	0	0.53005	P	3.100000000000325E-5	B	0.23937	0.094	B	0.14023	0.01	T	0.40308	-0.9570	9	0.72032	D	0.01	-1.2302	14.6752	0.68975	0.082:0.0:0.918:0.0	rs262993;rs58123380;rs262993	530	Q9ULM3	YETS2_HUMAN	I	530	ENSP00000306983:V530I	ENSP00000306983:V530I	V	+	1	0	YEATS2	184959379	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	5.373000	0.66162	2.449000	0.82847	0.585000	0.79938	GTC	G|0.576;A|0.424	0.424	strong		0.363	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		A	183476685	G	A	183476685	3	1	3	1	0	0	0	0	1	0	0	0	17469	1261	44	2	1634	2	YEATS2	3	183476685	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	605085	183476685	14545745	117	556										
PARL	55486	hgsc.bcm.edu	37	chr3	183558402	183558402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcctgtggcaactttacccaCgtaactgacaaaattggaaa	7	10	0	1	rs3732581	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:183558402C>G	ENST00000317096.4	-	7	844	c.784G>C	c.(784-786)Gtg>Ctg	p.V262L	PARL_ENST00000311101.5_Missense_Mutation_p.V212L|PARL_ENST00000435888.1_Missense_Mutation_p.V212L	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	262			V -> L (in dbSNP:rs3732581). {ECO:0000269|PubMed:12214059, ECO:0000269|Ref.3}.		membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.V262L(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTTTACCCACGTAACTGACA	0.259													C|||	2281	0.455471	0.4947	0.4971	5008	,	,		14534	0.4087		0.4781	False		,,,				2504	0.3978				p.V262L		Atlas-SNP	.											PARL,NS,carcinoma,0,1	PARL	32	1	1	Substitution - Missense(1)	stomach(1)	c.G784C						PASS	.	C	LEU/VAL,LEU/VAL	2166,2240	572.9+/-383.4	534,1098,571	49	48	49		634,784	2.3	0.9	3	dbSNP_107	49	4161,4437	561.4+/-387.8	1009,2143,1147	yes	missense,missense	PARL	NM_001037639.1,NM_018622.5	32,32	1543,3241,1718	GG,GC,CC		48.395,49.1602,48.6543	possibly-damaging,possibly-damaging	212/330,262/380	183558402	6327,6677	2203	4299	6502	SO:0001583	missense	55486	exon7			TACCCACGTAACT	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.784G>C	3.37:g.183558402C>G	ENSP00000325421:p.Val262Leu	Somatic	808	0	0		WXS	Illumina HiSeq	Phase_I	726	31	0.0426997	NM_018622	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	CCDS3248.1	1039|1039	0.4757326007326007|0.4757326007326007	232|232	0.4715447154471545|0.4715447154471545	192|192	0.5303867403314917|0.5303867403314917	258|258	0.45104895104895104|0.45104895104895104	357|357	0.470976253298153|0.470976253298153	C|C	11.77|11.77	1.738030|1.738030	0.30774|0.30774	0.491602|0.491602	0.48395|0.48395	ENSG00000175193|ENSG00000175193	ENST00000417784;ENST00000449306|ENST00000317096;ENST00000311101;ENST00000450375;ENST00000435888	.|T;T;T;T	.|0.11063	.|2.81;3.12;2.81;3.12	5.08|5.08	2.32|2.32	0.28847|0.28847	.|Peptidase S54, rhomboid domain (1);	.|0.372080	.|0.27544	.|N	.|0.018894	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.12611|0.12611	0.24|0.24	0.21064|0.21064	P|P	0.999791612|0.999791612	.|B;B	.|0.27732	.|0.187;0.002	.|B;B	.|0.31614	.|0.133;0.011	T|T	0.31194|0.31194	-0.9952|-0.9952	4|9	.|0.11485	.|T	.|0.65	-16.5729|-16.5729	10.5808|10.5808	0.45255|0.45255	0.0:0.7885:0.0:0.2115|0.0:0.7885:0.0:0.2115	rs3732581;rs17670811;rs52807469;rs3732581|rs3732581;rs17670811;rs52807469;rs3732581	.|212;262	.|Q9H300-2;Q9H300	.|.;PARL_HUMAN	P|L	53;125|262;212;42;212	.|ENSP00000325421:V262L;ENSP00000310676:V212L;ENSP00000402689:V42L;ENSP00000402137:V212L	.|ENSP00000310676:V212L	R|V	-|-	2|1	0|0	PARL|PARL	185041096|185041096	0.775000|0.775000	0.28604|0.28604	0.908000|0.908000	0.35775|0.35775	0.925000|0.925000	0.55904|0.55904	1.740000|1.740000	0.38228|0.38228	0.272000|0.272000	0.22027|0.22027	-0.253000|-0.253000	0.11424|0.11424	CGT|GTG	C|0.516;G|0.484	0.484	strong		0.259	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		G	183558402	C	G	183558402	3	3	3	1	0	0	0	0	1	0	0	0	11451	536	19	4	371	4	PARL	3	183558402	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	81717	183558402	14464028	118	557										
HTR3D	200909	hgsc.bcm.edu	37	chr3	183752964	183752964	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tagatgaaagctgctattccAggattcacaccttcaactgg	8	10	2	2	rs77099580	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:183752964A>C	ENST00000382489.3	+	2	238	c.238A>C	c.(238-240)Agg>Cgg	p.R80R	HTR3D_ENST00000334128.2_5'UTR|HTR3D_ENST00000453435.1_5'UTR|HTR3D_ENST00000428798.2_Splice_Site	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	80					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGCTATTCCAGGATTCACAC	0.478													A|||	71	0.0141773	0.0015	0.0259	5008	,	,		18381	0.0		0.0447	False		,,,				2504	0.0061				p.R80R		Atlas-SNP	.											.	HTR3D	65	.	0			c.A238C						PASS	.	A	,,	15,1369		0,15,677	275	226	241		,238,	3.4	0.2	3	dbSNP_132	241	130,3052		3,124,1464	yes	splice-3,coding-synonymous,utr-5	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	,,	3,139,2141	CC,CA,AA		4.0855,1.0838,3.1756	,,	,80/455,	183752964	145,4421	692	1591	2283	SO:0001819	synonymous_variant	200909	exon2			TATTCCAGGATTC	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.238A>C	3.37:g.183752964A>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_001163646	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	ENST00000382489.3	37	CCDS54685.1	50	0.022893772893772892	1	0.0020325203252032522	10	0.027624309392265192	0	0.0	39	0.051451187335092345	A	9.519	1.107887	0.20714	0.010838	0.040855	ENSG00000186090	ENST00000428798	.	.	.	4.59	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.33821	D	0.629031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9507	0.24544	0.8957:0.0:0.1043:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTR3D	185235658	0.995000	0.38212	0.164000	0.22755	0.164000	0.22412	3.449000	0.52950	0.903000	0.36546	0.533000	0.62120	.	A|0.974;C|0.026	0.026	strong		0.478	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		C	183752964	A	C	183752964	2	2	3	1	0	0	0	0	0	0	0	1	7447	202	7	5		5	HTR3D	3	183752964	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	194562	183752964	14269466	119	558										
DNAJB11	51726	hgsc.bcm.edu	37	chr3	186301703	186301703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atttgtacacaaatgtgacaAtctcattagttgagtcactg	7	7	2	2	rs8147	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:186301703A>G	ENST00000439351.1	+	9	1719	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.I264V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	264			I -> V (in dbSNP:rs8147). {ECO:0000269|PubMed:16303743, ECO:0000269|Ref.4}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AAATGTGACAATCTCATTAGT	0.348													A|||	1484	0.296326	0.5461	0.2378	5008	,	,		22257	0.1498		0.1859	False		,,,				2504	0.2648				p.I264V		Atlas-SNP	.											.	DNAJB11	42	.	0			c.A790G						PASS	.	A	VAL/ILE	2043,2363	566.3+/-381.9	471,1101,631	190	170	177		790	-0.8	0.2	3	dbSNP_52	177	1448,7152	277.6+/-293.0	113,1222,2965	yes	missense	DNAJB11	NM_016306.4	29	584,2323,3596	GG,GA,AA		16.8372,46.3686,26.8415	possibly-damaging	264/359	186301703	3491,9515	2203	4300	6503	SO:0001583	missense	51726	exon8			GTGACAATCTCAT	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.790A>G	3.37:g.186301703A>G	ENSP00000414398:p.Ile264Val	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	127	6	0.0472441	NM_016306	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	CCDS3277.1	578|578	0.26465201465201466|0.26465201465201466	257|257	0.5223577235772358|0.5223577235772358	101|101	0.27900552486187846|0.27900552486187846	82|82	0.14335664335664336|0.14335664335664336	138|138	0.1820580474934037|0.1820580474934037	A|A	16.71|16.71	3.199267|3.199267	0.58126|0.58126	0.463686|0.463686	0.168372|0.168372	ENSG00000090520|ENSG00000090520	ENST00000439351;ENST00000265028|ENST00000418776	T;T|.	0.53640|.	0.61;0.61|.	5.79|5.79	-0.818|-0.818	0.10833|0.10833	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);|.	0.192343|.	0.56097|.	N|.	0.000040|.	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.78285|0.78285	2.405|2.405	0.09310|0.09310	P|P	1.0|1.0	P|.	0.48589|.	0.912|.	P|.	0.51297|.	0.665|.	T|T	0.45862|0.45862	-0.9232|-0.9232	9|4	0.54805|.	T|.	0.06|.	-1.9249|-1.9249	9.7291|9.7291	0.40350|0.40350	0.583:0.0:0.417:0.0|0.583:0.0:0.417:0.0	rs8147;rs3193237;rs52831972;rs59580631;rs8147|rs8147;rs3193237;rs52831972;rs59580631;rs8147	264|.	Q9UBS4|.	DJB11_HUMAN|.	V|S	264|64	ENSP00000414398:I264V;ENSP00000265028:I264V|.	ENSP00000265028:I264V|.	I|N	+|+	1|2	0|0	DNAJB11|DNAJB11	187784397|187784397	0.978000|0.978000	0.34361|0.34361	0.220000|0.220000	0.23810|0.23810	0.973000|0.973000	0.67179|0.67179	2.653000|2.653000	0.46691|0.46691	-0.361000|-0.361000	0.08125|0.08125	-0.256000|-0.256000	0.11100|0.11100	ATC|AAT	A|0.723;G|0.277	0.277	strong		0.348	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			G	186301703	A	G	186301703	3	3	3	1	0	0	0	0	1	0	0	0	4616	101	4	2	820	2	DNAJB11	3	186301703	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2548739	186301703	11720727	120	559										
BCL6	604	hgsc.bcm.edu	37	chr3	187443314	187443314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aatctggctccgcaggtttcGcatttgtagggcttctctcc	10	12	2	0	rs61732778	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:187443314G>A	ENST00000406870.2	-	8	2178	c.1812C>T	c.(1810-1812)tgC>tgT	p.C604C	BCL6_ENST00000232014.4_Silent_p.C604C|BCL6_ENST00000450123.2_Silent_p.C548C|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	604					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGCAGGTTTCGCATTTGTAGG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								G|||	342	0.0682907	0.0726	0.0432	5008	,	,		14770	0.0903		0.0736	False		,,,				2504	0.0521				p.C604C		Atlas-SNP	.		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	BCL6,caecum,carcinoma,0,1	BCL6	107	1	0			c.C1812T						scavenged	.	G	,,	270,4136	153.3+/-186.9	6,258,1939	101	104	103		1812,1644,1812	1.7	1	3	dbSNP_129	103	627,7973	163.0+/-215.7	24,579,3697	no	coding-synonymous,coding-synonymous,coding-synonymous	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	,,	30,837,5636	AA,AG,GG		7.2907,6.128,6.8968	,,	604/707,548/651,604/707	187443314	897,12109	2203	4300	6503	SO:0001819	synonymous_variant	604	exon8			GGTTTCGCATTTG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1812C>T	3.37:g.187443314G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	67	3	0.0447761	NM_001706	A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	CCDS3289.1																																																																																			G|0.930;A|0.070	0.070	strong		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187443314	G	A	187443314	2	1	3	1	0	0	0	0	0	0	0	1	1376	1079	38	1		1	BCL6	3	187443314	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1141611	187443314	10579116	121	560										
OPA1	4976	hgsc.bcm.edu	37	chr3	193334991	193334991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aattagaaaagcccttcctaGttcagaagaccttgtaaagt	7	8	1	3	rs7624750	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr3:193334991G>A	ENST00000392438.3	+	4	707	c.473G>A	c.(472-474)aGt>aAt	p.S158N	OPA1_ENST00000361908.3_Missense_Mutation_p.S158N|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361510.2_Missense_Mutation_p.S158N|OPA1_ENST00000361828.2_Missense_Mutation_p.S158N|OPA1_ENST00000361150.2_Intron|OPA1-AS1_ENST00000433105.1_RNA	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	158			S -> N (in dbSNP:rs7624750). {ECO:0000269|PubMed:11440988, ECO:0000269|PubMed:11440989, ECO:0000269|PubMed:12036970, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15948788, ECO:0000269|PubMed:16617242, ECO:0000269|PubMed:9628581}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GCCCTTCCTAGTTCAGAAGAC	0.338													A|||	2344	0.468051	0.5847	0.4683	5008	,	,		16978	0.3681		0.4573	False		,,,				2504	0.4243				p.S158N		Atlas-SNP	.											OPA1,NS,carcinoma,0,1	OPA1	79	1	0			c.G473A						scavenged	.	A	ASN/SER,,,,ASN/SER,,ASN/SER,ASN/SER	2474,1930	539.4+/-375.3	696,1082,424	57	62	60		473,,,,473,,473,473	3.6	1	3	dbSNP_116	60	3988,4610	596.8+/-393.7	906,2176,1217	yes	missense,intron,intron,intron,missense,intron,missense,missense	OPA1	NM_015560.2,NM_130831.2,NM_130832.2,NM_130833.2,NM_130834.2,NM_130835.2,NM_130836.2,NM_130837.2	46,,,,46,,46,46	1602,3258,1641	AA,AG,GG		46.3829,43.8238,49.7	benign,,,,benign,,benign,benign	158/961,,,,158/979,,158/998,158/1016	193334991	6462,6540	2202	4299	6501	SO:0001583	missense	4976	exon4			TTCCTAGTTCAGA	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.473G>A	3.37:g.193334991G>A	ENSP00000376233:p.Ser158Asn	Somatic	410	0	0		WXS	Illumina HiSeq	Phase_I	459	10	0.0217865	NM_130836	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	997|997	0.4565018315018315|0.4565018315018315	297|297	0.6036585365853658|0.6036585365853658	157|157	0.43370165745856354|0.43370165745856354	194|194	0.33916083916083917|0.33916083916083917	349|349	0.4604221635883905|0.4604221635883905	A|A	5.124|5.124	0.208417|0.208417	0.09757|0.09757	0.561762|0.561762	0.463829|0.463829	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361828;ENST00000419435;ENST00000392436|ENST00000434811	D;D;D;D;T;T|.	0.92965|.	-3.1;-3.14;-3.14;-3.13;1.97;-0.86|.	6.05|6.05	3.64|3.64	0.41730|0.41730	.|.	0.424265|.	0.28766|.	N|.	0.014207|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	P|P	0.999999999863361|0.999999999863361	B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.0|.	T|T	0.44907|0.44907	-0.9297|-0.9297	9|4	0.16420|.	T|.	0.52|.	-8.8622|-8.8622	6.4094|6.4094	0.21682|0.21682	0.7267:0.1327:0.1406:0.0|0.7267:0.1327:0.1406:0.0	rs7624750;rs52806158;rs58655170;rs7624750|rs7624750;rs52806158;rs58655170;rs7624750	158;158;158;158|.	O60313;E5KLJ6;E5KLJ7;E5KLJ5|.	OPA1_HUMAN;.;.;.|.	N|I	158;158;158;158;34;158|58	ENSP00000354681:S158N;ENSP00000376233:S158N;ENSP00000355324:S158N;ENSP00000354429:S158N;ENSP00000399877:S34N;ENSP00000376231:S158N|.	ENSP00000355324:S158N|.	S|V	+|+	2|1	0|0	OPA1|OPA1	194817685|194817685	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.993000|0.993000	0.82548|0.82548	3.435000|3.435000	0.52849|0.52849	0.166000|0.166000	0.19597|0.19597	-0.269000|-0.269000	0.10298|0.10298	AGT|GTT	G|0.517;A|0.483	0.483	strong		0.338	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		A	193334991	G	A	193334991	3	1	3	1	0	0	0	0	1	0	0	0	10871	1029	36	2	487	2	OPA1	3	193334991	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5891677	193334991	4687439	122	561										
TACC3	10460	hgsc.bcm.edu	37	chr4	1730215	1730215	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agactgggagagaggtccggCctcaagcctcccttgaggaa	14	11	1	3	rs798757	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:1730215C>G	ENST00000313288.4	+	4	1192	c.1086C>G	c.(1084-1086)ggC>ggG	p.G362G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	362					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGAGGTCCGGCCTCAAGCCTC	0.612													C|||	682	0.136182	0.1914	0.1225	5008	,	,		19034	0.0119		0.1759	False		,,,				2504	0.1585				p.G362G	Ovarian(120;482 2294 11894 35824)	Atlas-SNP	.											.	TACC3	69	.	0			c.C1086G						PASS	.	C		873,3533	335.5+/-303.9	100,673,1430	52	61	58		1086	0.7	0	4	dbSNP_86	58	1734,6866	310.2+/-309.8	180,1374,2746	no	coding-synonymous	TACC3	NM_006342.1		280,2047,4176	GG,GC,CC		20.1628,19.8139,20.0446		362/839	1730215	2607,10399	2203	4300	6503	SO:0001819	synonymous_variant	10460	exon4			GTCCGGCCTCAAG	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1086C>G	4.37:g.1730215C>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	143	6	0.041958	NM_006342	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1	275	0.1259157509157509	89	0.18089430894308944	47	0.1298342541436464	8	0.013986013986013986	131	0.17282321899736147	C	3.894	-0.023378	0.07634	0.198139	0.201628	ENSG00000013810	ENST00000470136	.	.	.	4.1	0.669	0.17918	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.20107	-1.0285	3	.	.	.	-2.1506	3.3079	0.07006	0.29:0.3119:0.0:0.3981	rs798757;rs1665369;rs798757	.	.	.	A	29	.	.	P	+	1	0	TACC3	1700013	0.000000	0.05858	0.010000	0.14722	0.039000	0.13416	0.159000	0.16442	0.190000	0.20209	-0.373000	0.07131	CCT	C|0.830;G|0.170	0.170	strong		0.612	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			G	1730215	C	G	1730215	2	3	3	1	0	0	0	0	0	0	0	1	15500	726	26	4		4	TACC3	4	1730215	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		1730215	189424061	123	562										
SLC2A9	56606	hgsc.bcm.edu	37	chr4	9998440	9998440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaatcatcttcacaattaaCgtccccacaagtccaccgat	3	16	3	0	rs10939650	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:9998440C>T	ENST00000264784.3	-	3	428	c.375G>A	c.(373-375)acG>acA	p.T125T	SLC2A9_ENST00000506583.1_Silent_p.T96T|SLC2A9_ENST00000309065.3_Silent_p.T96T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	125			T -> M (in RHUC2; markedly reduced urate transport activity; dbSNP:rs181509591). {ECO:0000269|PubMed:21810765}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.T96T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCACAATTAACGTCCCCACAA	0.488													C|||	3216	0.642173	0.6944	0.5821	5008	,	,		20048	0.506		0.7525	False		,,,				2504	0.6411				p.T125T		Atlas-SNP	.											SLC2A9,NS,carcinoma,0,1	SLC2A9	158	1	1	Substitution - coding silent(1)	stomach(1)	c.G375A						scavenged	.	C	,	3012,1394	687.7+/-404.9	1037,938,228	105	90	95		288,375	-7.7	0	4	dbSNP_120	95	6445,2155	713.8+/-406.0	2399,1647,254	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	3436,2585,482	TT,TC,CC		25.0581,31.6387,27.2874	,	96/512,125/541	9998440	9457,3549	2203	4300	6503	SO:0001819	synonymous_variant	56606	exon3			AATTAACGTCCCC	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.375G>A	4.37:g.9998440C>T		Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	186	7	0.0376344	NM_020041	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																			C|0.307;T|0.693	0.693	strong		0.488	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			T	9998440	C	T	9998440	2	4	3	1	0	0	0	0	0	0	0	1	14552	523	19	1		1	SLC2A9	4	9998440	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	8268225	9998440	181155836	124	563										
ANAPC4	29945	hgsc.bcm.edu	37	chr4	25408838	25408838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggctccagacctttataatcGaaaaggaaaatactttaacg	7	8	0	1	rs34811474	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:25408838G>A	ENST00000315368.3	+	20	1536	c.1394G>A	c.(1393-1395)cGa>cAa	p.R465Q	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R466Q	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	465			R -> Q (in dbSNP:rs34811474).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTTTATAATCGAAAAGGAAAA	0.323													G|||	371	0.0740815	0.0189	0.1239	5008	,	,		16203	0.0		0.2167	False		,,,				2504	0.0429				p.R465Q		Atlas-SNP	.											ANAPC4,NS,carcinoma,+1,1	ANAPC4	61	1	0			c.G1394A						scavenged	.	G	GLN/ARG	180,4226	101.6+/-140.2	7,166,2030	53	56	55		1394	5.1	1	4	dbSNP_126	55	1886,6710	323.5+/-316.1	207,1472,2619	yes	missense	ANAPC4	NM_013367.2	43	214,1638,4649	AA,AG,GG		21.9404,4.0853,15.8899	benign	465/809	25408838	2066,10936	2203	4298	6501	SO:0001583	missense	29945	exon20			ATAATCGAAAAGG	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1394G>A	4.37:g.25408838G>A	ENSP00000318775:p.Arg465Gln	Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	313	13	0.0415335	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	223	0.1021062271062271	10	0.02032520325203252	54	0.14917127071823205	0	0.0	159	0.20976253298153033	G	13.01	2.110474	0.37242	0.040853	0.219404	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32023	1.47;1.47	5.13	5.13	0.70059	.	0.059354	0.64402	D	0.000001	T	0.00012	0.0000	L	0.27053	0.805	0.21445	P	0.999685615	B	0.25312	0.123	B	0.13407	0.009	T	0.21143	-1.0254	9	0.10377	T	0.69	-6.5303	12.3291	0.55028	0.078:0.0:0.922:0.0	rs34811474;rs61748742	465	Q9UJX5	APC4_HUMAN	Q	465;466	ENSP00000318775:R465Q;ENSP00000426654:R466Q	ENSP00000318775:R465Q	R	+	2	0	ANAPC4	25017936	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.177000	0.71961	2.569000	0.86673	0.591000	0.81541	CGA	G|0.858;A|0.142	0.142	strong		0.323	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		A	25408838	G	A	25408838	3	1	3	1	0	0	0	0	1	0	0	0	604	1058	37	1	1468	1	ANAPC4	4	25408838	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	15410398	25408838	165745438	125	564										
GUF1	60558	hgsc.bcm.edu	37	chr4	44682465	44682465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcccctttctaggaaaaacTtgacatgtctaggtttcctg	7	10	2	1	rs6447368	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:44682465T>C	ENST00000281543.5	+	2	367	c.173T>C	c.(172-174)cTt>cCt	p.L58P	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.L58P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TAGGAAAAACTTGACATGTCT	0.338													T|||	2205	0.440296	0.2897	0.5202	5008	,	,		14515	0.4018		0.6014	False		,,,				2504	0.4611				p.L58P		Atlas-SNP	.											GUF1,NS,carcinoma,0,1	GUF1	72	1	1	Substitution - Missense(1)	stomach(1)	c.T173C						scavenged	.	T	PRO/LEU	1523,2883	461.5+/-352.9	267,989,947	56	54	54		173	2.8	0.4	4	dbSNP_116	54	5468,3132	637.2+/-399.2	1747,1974,579	yes	missense	GUF1	NM_021927.2	98	2014,2963,1526	CC,CT,TT		36.4186,34.5665,46.2479	benign	58/670	44682465	6991,6015	2203	4300	6503	SO:0001583	missense	60558	exon2			AAAAACTTGACAT		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.173T>C	4.37:g.44682465T>C	ENSP00000281543:p.Leu58Pro	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	246	9	0.0365854	NM_021927		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	1004	0.4597069597069597	144	0.2926829268292683	188	0.5193370165745856	226	0.3951048951048951	446	0.5883905013192612	T	9.377	1.072042	0.20147	0.345665	0.635814	ENSG00000151806	ENST00000281543	T	0.70045	-0.45	5.17	2.83	0.33086	.	1.148940	0.06297	N	0.700199	T	0.00012	0.0000	N	0.08118	0	0.47094	P	6.840000000000179E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.46762	-0.9168	9	0.49607	T	0.09	-0.1341	7.0188	0.24902	0.0:0.2122:0.0:0.7878	rs6447368;rs11556168;rs6447368	58	Q8N442	GUF1_HUMAN	P	58	ENSP00000281543:L58P	ENSP00000281543:L58P	L	+	2	0	GUF1	44377222	0.824000	0.29247	0.358000	0.25811	0.746000	0.42486	4.783000	0.62403	0.412000	0.25729	-0.388000	0.06559	CTT	T|0.484;C|0.516	0.516	strong		0.338	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		C	44682465	T	C	44682465	3	2	3	1	0	0	0	0	1	0	0	0	6899	1609	56	3	179	3	GUF1	4	44682465	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	19273627	44682465	146471811	126	565										
GABRG1	2565	hgsc.bcm.edu	37	chr4	46086060	46086060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	taaacatcagtttcaattacTgtgggcctcactgcaaaata	6	9	3	0	rs976156	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:46086060T>C	ENST00000295452.4	-	3	431	c.264A>G	c.(262-264)acA>acG	p.T88T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	88					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T88T(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCAATTACTGTGGGCCTCA	0.284													T|||	2549	0.508986	0.7209	0.562	5008	,	,		15395	0.3304		0.5517	False		,,,				2504	0.3252				p.T88T		Atlas-SNP	.											GABRG1,NS,carcinoma,0,1	GABRG1	172	1	1	Substitution - coding silent(1)	stomach(1)	c.A264G						scavenged	.	T		3079,1319		1085,909,205	40	40	40		264	-3.8	1	4	dbSNP_86	40	4741,3843		1345,2051,896	no	coding-synonymous	GABRG1	NM_173536.3		2430,2960,1101	CC,CT,TT		44.7693,29.9909,39.7627		88/466	46086060	7820,5162	2199	4292	6491	SO:0001819	synonymous_variant	2565	exon3			AATTACTGTGGGC	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.264A>G	4.37:g.46086060T>C		Somatic	567	2	0.00352734		WXS	Illumina HiSeq	Phase_I	569	11	0.0193322	NM_173536	Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1																																																																																			T|0.435;C|0.565	0.565	strong		0.284	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		C	46086060	T	C	46086060	2	2	3	1	0	0	0	0	0	0	0	1	6171	1567	55	3		3	GABRG1	4	46086060	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1403595	46086060	145068216	127	566										
SPATA18	132671	hgsc.bcm.edu	37	chr4	52938302	52938302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atagctgttctgtctgctgaGaaaagtgcactccaaggaag	11	8	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:52938302G>T	ENST00000295213.4	+	6	1112	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.E214D	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	246					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.E246E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGTCTGCTGAGAAAAGTGCAC	0.453																																					p.E246D		Atlas-SNP	.											SPATA18_ENST00000295213,colon,carcinoma,+2,5	SPATA18	222	5	1	Substitution - coding silent(1)	ovary(1)	c.G738T						PASS	.						79	75	76					4																	52938302		2203	4300	6503	SO:0001583	missense	132671	exon6			TGCTGAGAAAAGT	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.738G>T	4.37:g.52938302G>T	ENSP00000295213:p.Glu246Asp	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	203	78	0.384236	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507772	0.27036	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;D	0.88354	0.43;-2.37	4.97	-1.64	0.08318	.	0.047408	0.85682	D	0.000000	D	0.92499	0.7618	M	0.78049	2.395	0.43080	D	0.994736	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.994;0.99	D	0.90626	0.4563	10	0.72032	D	0.01	-26.6162	11.075	0.48025	0.3755:0.0:0.6245:0.0	.	214;246;246	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	D	246;214	ENSP00000295213:E246D;ENSP00000415309:E214D	ENSP00000295213:E246D	E	+	3	2	SPATA18	52633059	1.000000	0.71417	0.464000	0.27143	0.008000	0.06430	0.397000	0.20883	-0.461000	0.06993	-0.355000	0.07637	GAG	.	.	none		0.453	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		T	52938302	G	T	52938302	3	4	3	1	0	0	0	0	1	0	0	0	15002	933	33	4	760	4	SPATA18	4	52938302	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	6852242	52938302	138215974	128	567										
EPHA5	2044	hgsc.bcm.edu	37	chr4	66467586	66467586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagggcattttttatagtatAcacgcacagaaaccagagca	8	8	0	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:66467586A>G	ENST00000273854.3	-	3	1283	c.683T>C	c.(682-684)gTa>gCa	p.V228A	EPHA5_ENST00000432638.2_Missense_Mutation_p.V228A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V228A|EPHA5_ENST00000511294.1_Missense_Mutation_p.V228A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	228	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTATAGTATACACGCACAGA	0.453										TSP Lung(17;0.13)																											p.V228A		Atlas-SNP	.											EPHA5,colon,carcinoma,0,1	EPHA5	315	1	0			c.T683C						PASS	.						70	67	68					4																	66467586		2203	4300	6503	SO:0001583	missense	2044	exon3			TAGTATACACGCA	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.683T>C	4.37:g.66467586A>G	ENSP00000273854:p.Val228Ala	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	110	39	0.354545	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044907	0.75732	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.83	5.83	0.93111	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000038	T	0.33118	0.0852	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.91635	0.998;0.999;0.997;0.997	T	0.06303	-1.0834	10	0.52906	T	0.07	.	16.1982	0.82046	1.0:0.0:0.0:0.0	.	228;228;228;228	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	228	ENSP00000273854:V228A;ENSP00000389208:V228A;ENSP00000346899:V228A;ENSP00000427638:V228A	ENSP00000273854:V228A	V	-	2	0	EPHA5	66150181	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	9.339000	0.96797	2.226000	0.72624	0.533000	0.62120	GTA	.	.	none		0.453	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		G	66467586	A	G	66467586	3	3	3	1	0	0	0	0	1	0	0	0	5170	391	14	2	2494	2	EPHA5	4	66467586	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	13529284	66467586	124686690	129	568										
TMPRSS11A	339967	hgsc.bcm.edu	37	chr4	68780427	68780427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgattttcactctggcttctCggagatcattttgggattcc	9	9	4	2	rs150048717		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:68780427C>T	ENST00000334830.7	-	9	1729	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R324Q|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R325Q|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	328	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R328Q(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCTGGCTTCTCGGAGATCATT	0.388																																					p.R328Q	NSCLC(26;2 894 10941 14480 22546)	Atlas-SNP	.											TMPRSS11A,colon,carcinoma,0,1	TMPRSS11A	74	1	1	Substitution - Missense(1)	large_intestine(1)	c.G983A						scavenged	.	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	138	130	132		974,983	3.2	0.6	4	dbSNP_134	132	25,8575	17.9+/-57.8	0,25,4275	yes	missense,missense	TMPRSS11A	NM_001114387.1,NM_182606.3	43,43	0,27,6476	TT,TC,CC		0.2907,0.0454,0.2076	possibly-damaging,possibly-damaging	325/419,328/422	68780427	27,12979	2203	4300	6503	SO:0001583	missense	339967	exon9			GCTTCTCGGAGAT	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.983G>A	4.37:g.68780427C>T	ENSP00000334611:p.Arg328Gln	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	143	8	0.0559441	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	7.647	0.682081	0.14907	4.54E-4	0.002907	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.78	3.15	0.36227	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299635	0.24065	N	0.041869	T	0.67636	0.2914	N	0.01152	-0.98	0.31986	N	0.605203	P;P	0.51351	0.944;0.944	B;B	0.29077	0.098;0.098	T	0.73316	-0.4021	10	0.11794	T	0.64	.	7.8773	0.29601	0.0:0.6795:0.0:0.3205	.	325;328	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	Q	324;328;325;292	ENSP00000426911:R324Q;ENSP00000334611:R328Q;ENSP00000379491:R325Q;ENSP00000427621:R292Q	ENSP00000334611:R328Q	R	-	2	0	TMPRSS11A	68463022	0.174000	0.23070	0.641000	0.29422	0.109000	0.19521	-0.117000	0.10708	0.380000	0.24823	0.591000	0.81541	CGA	C|0.998;T|0.002	0.002	strong		0.388	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		T	68780427	C	T	68780427	3	4	3	1	0	0	0	0	1	0	0	0	16236	884	31	1	290	1	TMPRSS11A	4	68780427	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2312841	68780427	122373849	130	569										
UGT2B28	54490	hgsc.bcm.edu	37	chr4	70146804	70146804	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccctccttcctacatacctGttgttatgtcaaaattaagt	4	11	1	0	rs148987832	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:70146804G>C	ENST00000335568.5	+	1	588	c.586G>C	c.(586-588)Gtt>Ctt	p.V196L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.V196L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	196					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V196L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTACATACCTGTTGTTATGTC	0.383													-|||	540	0.107827	0.0794	0.1066	5008	,	,		15023	0.001		0.1998	False		,,,				2504	0.1626				p.V196L		Atlas-SNP	.											UGT2B28,NS,carcinoma,0,1	UGT2B28	101	1	1	Substitution - Missense(1)	pancreas(1)	c.G586C						scavenged	.	A	LEU/VAL,LEU/VAL	456,3602		118,220,1691	82	85	84		586,586	-3	0	4	dbSNP_134	84	1636,6830		327,982,2924	no	missense,missense	UGT2B28	NM_001207004.1,NM_053039.1	32,32	445,1202,4615	CC,CG,GG		19.3244,11.2371,16.7039	benign,benign	196/336,196/530	70146804	2092,10432	2029	4233	6262	SO:0001583	missense	54490	exon1			ATACCTGTTGTTA	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.586G>C	4.37:g.70146804G>C	ENSP00000334276:p.Val196Leu	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	213	6	0.028169	NM_053039	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	232	0.10622710622710622	34	0.06910569105691057	47	0.1298342541436464	6	0.01048951048951049	145	0.19129287598944592	-	5.967	0.362313	0.11296	0.112371	0.193244	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60171	0.21;0.21	2.18	-2.99	0.05497	.	10.250200	0.01475	U	0.016449	T	0.00109	0.0003	L	0.58101	1.795	0.80722	P	0.0	B;B	0.23185	0.081;0.005	B;B	0.33750	0.169;0.031	T	0.07385	-1.0775	9	0.10111	T	0.7	.	7.3598	0.26739	0.4534:0.0:0.5466:0.0	.	196;196	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	L	196	ENSP00000334276:V196L;ENSP00000427399:V196L	ENSP00000334276:V196L	V	+	1	0	UGT2B28	70181393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.213000	0.17521	-1.067000	0.03160	-1.139000	0.01908	GTT	.	.	weak		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		C	70146804	G	C	70146804	3	2	3	1	0	0	0	0	1	0	0	0	16957	1377	48	4	588	4	UGT2B28	4	70146804	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1366377	70146804	121007472	131	570										
UGT2B28	54490	hgsc.bcm.edu	37	chr4	70160277	70160277	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaatgttatgaaattatcaaTaattcaacatgatcaaccag	5	6	3	2	rs6843900	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:70160277T>G	ENST00000335568.5	+	6	1342	c.1340T>G	c.(1339-1341)aTa>aGa	p.I447R	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	447			I -> R (in dbSNP:rs6843900). {ECO:0000269|PubMed:19054851}.		metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.I447R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATTATCAATAATTCAACAT	0.373													N|||	1888	0.376997	0.2678	0.4524	5008	,	,		13055	0.3819		0.4771	False		,,,				2504	0.363				p.I447R		Atlas-SNP	.											UGT2B28,NS,carcinoma,0,1	UGT2B28	101	1	1	Substitution - Missense(1)	stomach(1)	c.T1340G						scavenged	.	G	,ARG/ILE	1389,2641		443,503,1069	39	46	44		,1340	2.2	0	4	dbSNP_116	44	4242,4208		1321,1600,1304	no	utr-3,missense	UGT2B28	NM_001207004.1,NM_053039.1	,97	1764,2103,2373	GG,GT,TT		49.7988,34.4665,45.1202	,benign	,447/530	70160277	5631,6849	2015	4225	6240	SO:0001583	missense	54490	exon6			TATCAATAATTCA	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1340T>G	4.37:g.70160277T>G	ENSP00000334276:p.Ile447Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	130	5	0.0384615	NM_053039	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	804	0.36813186813186816	101	0.20528455284552846	146	0.40331491712707185	198	0.34615384615384615	359	0.4736147757255937	-	0	-2.861548	0.00064	0.344665	0.502012	ENSG00000135226	ENST00000335568	T	0.60040	0.22	2.17	2.17	0.27698	.	0.310296	0.24102	N	0.041536	T	0.00012	0.0000	N	0.00504	-1.425	0.09310	P	0.999999892799	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	9	0.02654	T	1	.	7.8253	0.29311	0.0:0.0:0.7495:0.2504	rs6843900;rs52813205	447	Q9BY64	UDB28_HUMAN	R	447	ENSP00000334276:I447R	ENSP00000334276:I447R	I	+	2	0	UGT2B28	70194866	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.223000	0.17719	0.254000	0.21573	-1.122000	0.02009	ATA	T|0.630;G|0.370	0.370	strong		0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		G	70160277	T	G	70160277	3	3	3	1	0	0	0	0	1	0	0	0	16957	1406	49	5	1362	5	UGT2B28	4	70160277	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	13473	70160277	120993999	132	571										
UGT2A1	10941	hgsc.bcm.edu	37	chr4	70512773	70512773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tttggtcggtgagttctgatAaaacagcaggaacataggaa	12	5	1	2	rs41292307	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:70512773A>G	ENST00000503640.1	-	1	645	c.590T>C	c.(589-591)tTa>tCa	p.L197S	UGT2A1_ENST00000512704.1_Missense_Mutation_p.L197S|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L197S|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L197S	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	197					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGTTCTGATAAAACAGCAGG	0.423													A|||	351	0.0700879	0.0038	0.0807	5008	,	,		18794	0.001		0.161	False		,,,				2504	0.1299				p.L197S		Atlas-SNP	.											.	UGT2A1	131	.	0			c.T590C						PASS	.	A	SER/LEU	167,4239	109.9+/-148.2	4,159,2040	92	80	84		590	5.8	0.4	4	dbSNP_127	84	1581,7017	294.8+/-302.1	136,1309,2854	yes	missense	UGT2A1	NM_006798.2	145	140,1468,4894	GG,GA,AA		18.388,3.7903,13.442	possibly-damaging	197/528	70512773	1748,11256	2203	4299	6502	SO:0001583	missense	10941	exon2			TCTGATAAAACAG	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.590T>C	4.37:g.70512773A>G	ENSP00000424478:p.Leu197Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	79	5	0.0632911	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	149	0.06822344322344322	3	0.006097560975609756	31	0.0856353591160221	0	0.0	115	0.1517150395778364	A	14.39	2.519890	0.44866	0.037903	0.18388	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.64803	-0.12;0.02;-0.12;-0.12	5.78	5.78	0.91487	.	0.378699	0.25762	N	0.028474	T	0.00384	0.0012	L	0.49350	1.555	.	.	.	D;P;D;D	0.89917	1.0;0.92;1.0;0.999	D;B;D;D	0.79784	0.993;0.388;0.993;0.986	T	0.08146	-1.0736	9	0.54805	T	0.06	.	14.0552	0.64764	1.0:0.0:0.0:0.0	rs41292307	197;197;197;197	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	S	197	ENSP00000424478:L197S;ENSP00000421432:L197S;ENSP00000425497:L197S;ENSP00000286604:L197S	ENSP00000286604:L197S	L	-	2	0	UGT2A1	70547362	0.949000	0.32298	0.364000	0.25888	0.503000	0.33858	4.429000	0.59901	2.215000	0.71742	0.482000	0.46254	TTA	A|0.882;G|0.118	0.118	strong		0.423	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		G	70512773	A	G	70512773	3	3	3	1	0	0	0	0	1	0	0	0	16950	372	13	2	1017	2	UGT2A1	4	70512773	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	352496	70512773	120641503	133	572										
AMBN	258	hgsc.bcm.edu	37	chr4	71468348	71468348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atctgtgatatagctcccagGagtagattttgctgatccac	9	9	1	3	rs368655454|rs141384720|rs199556863	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:71468348G>T	ENST00000322937.6	+	7	642	c.539G>T	c.(538-540)gGa>gTa	p.G180V	AMBN_ENST00000449493.2_Missense_Mutation_p.G165V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	180				G -> R (in Ref. 3; AAG35772 and 4; AAG27036). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGCTCCCAGGAGTAGATTTT	0.264																																					p.G180V		Atlas-SNP	.											.	AMBN	73	.	0			c.G539T						PASS	.						42	49	47					4																	71468348		2161	4276	6437	SO:0001583	missense	258	exon7			TCCCAGGAGTAGA	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.539G>T	4.37:g.71468348G>T	ENSP00000313809:p.Gly180Val	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	381	17	0.0446194	NM_016519	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.097|0.097	-1.157535|-1.157535	0.01686|0.01686	.|.	.|.	ENSG00000178522|ENSG00000178522	ENST00000322937;ENST00000449493|ENST00000538728	T;T|.	0.27890|.	1.64;1.64|.	3.34|3.34	-2.84|-2.84	0.05751|0.05751	.|.	2.543920|.	0.02234|.	U|.	0.065161|.	T|T	0.18002|0.18002	0.0432|0.0432	N|N	0.22421|0.22421	0.69|0.69	0.19575|0.19575	N|N	0.999964|0.999964	B|.	0.17268|.	0.021|.	B|.	0.12837|.	0.008|.	T|T	0.24190|0.24190	-1.0167|-1.0167	10|6	0.22706|0.29301	T|T	0.39|0.29	.|.	0.3396|0.3396	0.00331|0.00331	0.3712:0.1546:0.2472:0.227|0.3712:0.1546:0.2472:0.227	.|.	180|.	Q9NP70|.	AMBN_HUMAN|.	V|L	180;165|179	ENSP00000313809:G180V;ENSP00000391234:G165V|.	ENSP00000313809:G180V|ENSP00000445605:R179L	G|R	+|+	2|2	0|0	AMBN|AMBN	71502937|71502937	0.095000|0.095000	0.21747|0.21747	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	-0.066000|-0.066000	0.11598|0.11598	-0.545000|-0.545000	0.06224|0.06224	0.305000|0.305000	0.20034|0.20034	GGA|CGA	.	.	weak		0.264	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		T	71468348	G	T	71468348	3	4	3	1	0	0	0	0	1	0	0	0	563	1174	41	4	565	4	AMBN	4	71468348	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	955575	71468348	119685928	134	573										
ADAMTS3	9508	hgsc.bcm.edu	37	chr4	73205310	73205310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agtacctcgatattgtaatcGttttctcccgcgtgtctgcg	9	11	2	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:73205310G>A	ENST00000286657.4	-	5	798	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	254					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATTGTAATCGTTTTCTCCCG	0.498																																					p.N254N	NSCLC(168;1941 2048 2918 13048 43078)	Atlas-SNP	.											.	ADAMTS3	164	.	0			c.C762T						PASS	.						284	272	276					4																	73205310		2203	4300	6503	SO:0001819	synonymous_variant	9508	exon5			GTAATCGTTTTCT	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.762C>T	4.37:g.73205310G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	108	41	0.37963	NM_014243	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																			.	.	none		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			A	73205310	G	A	73205310	2	1	3	1	0	0	0	0	0	0	0	1	267	1136	40	1		1	ADAMTS3	4	73205310	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1736962	73205310	117948966	135	574										
PARM1	25849	hgsc.bcm.edu	37	chr4	75938236	75938236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catgccacagctgagccagtAccccaggagaaaacaccccc	8	17	0	2	rs1062293	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:75938236A>G	ENST00000307428.7	+	2	857	c.645A>G	c.(643-645)gtA>gtG	p.V215V	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	215					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.V215V(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTGAGCCAGTACCCCAGGAGA	0.572													G|||	2072	0.413738	0.4244	0.3473	5008	,	,		19214	0.2143		0.5338	False		,,,				2504	0.5286				p.V215V		Atlas-SNP	.											PARM1_ENST00000307428,NS,carcinoma,0,1	PARM1	52	1	1	Substitution - coding silent(1)	stomach(1)	c.A645G						scavenged	.	G		1816,2422		414,988,717	109	119	116		645	4.6	0	4	dbSNP_86	116	4211,4267		1041,2129,1069	no	coding-synonymous	PARM1	NM_015393.3		1455,3117,1786	GG,GA,AA		49.6697,42.8504,47.397		215/311	75938236	6027,6689	2119	4239	6358	SO:0001819	synonymous_variant	25849	exon2			GCCAGTACCCCAG	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.645A>G	4.37:g.75938236A>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	106	3	0.0283019	NM_015393	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																			A|0.598;G|0.402	0.402	strong		0.572	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		G	75938236	A	G	75938236	2	3	3	1	0	0	0	0	0	0	0	1	11452	378	14	2		2	PARM1	4	75938236	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2732926	75938236	115216040	136	575										
C4orf37	285555	hgsc.bcm.edu	37	chr4	98893476	98893476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcacaagcttctttctgaacCgagaagaaagtccgaggaac	10	10	2	3	rs783959	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:98893476C>T	ENST00000295268.3	-	7	977	c.888G>A	c.(886-888)tcG>tcA	p.S296S		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	296								p.S296S(2)									CTTTCTGAACCGAGAAGAAAG	0.363													C|||	2050	0.409345	0.3714	0.5403	5008	,	,		15237	0.2431		0.4751	False		,,,				2504	0.4714				p.S296S		Atlas-SNP	.											C4orf37,NS,carcinoma,0,2	.	.	2	2	Substitution - coding silent(2)	prostate(1)|stomach(1)	c.G888A						scavenged	.	C		1577,2829	492.5+/-362.4	296,985,922	82	82	82		888	0.3	0	4	dbSNP_86	82	4000,4600	552.9+/-386.2	937,2126,1237	no	coding-synonymous	C4orf37	NM_174952.2		1233,3111,2159	TT,TC,CC		46.5116,35.7921,42.8802		296/460	98893476	5577,7429	2203	4300	6503	SO:0001819	synonymous_variant	285555	exon7			CTGAACCGAGAAG	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.888G>A	4.37:g.98893476C>T		Somatic	400	1	0.0025		WXS	Illumina HiSeq	Phase_I	331	8	0.0241692	NM_174952		Silent	SNP	ENST00000295268.3	37	CCDS3645.1																																																																																			C|0.581;T|0.419	0.419	strong		0.363	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		T	98893476	C	T	98893476	2	4	3	1	0	0	0	0	0	0	0	1	2267	639	23	1		1	C4orf37	4	98893476	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	22955240	98893476	92260800	137	576										
CENPE	1062	hgsc.bcm.edu	37	chr4	104102563	104102563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggagagcttcatcagttgaTacctcattaacataaggagt	9	7	3	2	rs17217250	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:104102563T>C	ENST00000265148.3	-	12	1103	c.1014A>G	c.(1012-1014)gtA>gtG	p.V338V	CENPE_ENST00000380026.3_Silent_p.V338V|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	338					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.V338V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATCAGTTGATACCTCATTAA	0.294													T|||	599	0.119609	0.0552	0.1153	5008	,	,		14600	0.1419		0.2207	False		,,,				2504	0.0828				p.V338V		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - coding silent(1)	stomach(1)	c.A1014G						scavenged	.	T		250,4146	142.3+/-177.5	8,234,1956	62	62	62		1014	-3.2	1	4	dbSNP_123	62	1770,6810	313.0+/-311.1	193,1384,2713	no	coding-synonymous	CENPE	NM_001813.2		201,1618,4669	CC,CT,TT		20.6294,5.687,15.5672		338/2702	104102563	2020,10956	2198	4290	6488	SO:0001819	synonymous_variant	1062	exon12			AGTTGATACCTCA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1014A>G	4.37:g.104102563T>C		Somatic	592	3	0.00506757		WXS	Illumina HiSeq	Phase_I	549	20	0.0364299	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			T|0.840;C|0.160	0.160	strong		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104102563	T	C	104102563	2	2	3	1	0	0	0	0	0	0	0	1	3230	1393	49	2		2	CENPE	4	104102563	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	5209087	104102563	87051713	138	577										
BBS12	166379	hgsc.bcm.edu	37	chr4	123664881	123664881	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acactgccaattactcatcaGaatttgaagccagcacatac	5	12	2	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:123664881G>T	ENST00000314218.3	+	2	2027	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	BBS12_ENST00000542236.1_Nonsense_Mutation_p.E612*	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	612					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTACTCATCAGAATTTGAAGC	0.378									Bardet-Biedl syndrome																												p.E612X		Atlas-SNP	.											.	BBS12	63	.	0			c.G1834T						PASS	.						85	83	83					4																	123664881		2203	4300	6503	SO:0001587	stop_gained	166379	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TCATCAGAATTTG	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1834G>T	4.37:g.123664881G>T	ENSP00000319062:p.Glu612*	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	5	0.0549451	NM_001178007	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Nonsense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	40	8.505213	0.98841	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	.	.	.	5.81	4.97	0.65823	.	0.282205	0.39274	N	0.001417	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-34.5508	16.4957	0.84242	0.0:0.1415:0.8585:0.0	.	.	.	.	X	612	.	ENSP00000319062:E612X	E	+	1	0	BBS12	123884331	1.000000	0.71417	0.698000	0.30274	0.872000	0.50106	3.556000	0.53734	1.427000	0.47276	0.591000	0.81541	GAA	.	.	none		0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		T	123664881	G	T	123664881	4	4	3	1	0	0	0	0	0	1	0	0	1337	943	33	4	1836	4	BBS12	4	123664881	Nonsense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	19562318	123664881	67489395	139	578										
TLR2	7097	hgsc.bcm.edu	37	chr4	154624656	154624656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agtttgaagtcaattcagaaTgtaagtcatctgatccttca	7	7	5	3	rs3804099	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:154624656T>C	ENST00000260010.6	+	1	2005	c.597T>C	c.(595-597)aaT>aaC	p.N199N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	199					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAATTCAGAATGTAAGTCATC	0.378													C|||	2077	0.414736	0.6354	0.3329	5008	,	,		19466	0.2827		0.4354	False		,,,				2504	0.2894				p.N199N		Atlas-SNP	.											.	TLR2	84	.	0			c.T597C						PASS	.	C		2692,1714	515.0+/-368.8	812,1068,323	97	96	97		597	-5.9	0	4	dbSNP_107	97	3742,4858	615.9+/-396.4	796,2150,1354	no	coding-synonymous	TLR2	NM_003264.3		1608,3218,1677	CC,CT,TT		43.5116,38.9015,49.4695		199/785	154624656	6434,6572	2203	4300	6503	SO:0001819	synonymous_variant	7097	exon3			TCAGAATGTAAGT	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.597T>C	4.37:g.154624656T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	126	9	0.0714286	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	CCDS3784.1																																																																																			T|0.532;C|0.468	0.468	strong		0.378	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			C	154624656	T	C	154624656	2	2	3	1	0	0	0	0	0	0	0	1	15948	1461	51	2		2	TLR2	4	154624656	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	30959775	154624656	36529620	140	579										
TLR2	7097	hgsc.bcm.edu	37	chr4	154625039	154625039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaggttttacttattttatgAtctgagcactttatattcac	5	6	2	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:154625039A>T	ENST00000260010.6	+	1	2388	c.980A>T	c.(979-981)gAt>gTt	p.D327V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	327					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.D327V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTATTTTATGATCTGAGCACT	0.318																																					p.D327V		Atlas-SNP	.											TLR2,NS,lymphoid_neoplasm,0,3	TLR2	84	3	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.A980T						PASS	.						58	63	62					4																	154625039		2203	4299	6502	SO:0001583	missense	7097	exon3			TTTATGATCTGAG	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.980A>T	4.37:g.154625039A>T	ENSP00000260010:p.Asp327Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	109	41	0.376147	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112000	0.56398	.	.	ENSG00000137462	ENST00000260010	T	0.16457	2.34	6.06	6.06	0.98353	.	0.366671	0.29165	N	0.012947	T	0.36635	0.0974	M	0.67397	2.05	0.28454	N	0.916221	D	0.61697	0.99	D	0.63113	0.911	T	0.35101	-0.9802	10	0.87932	D	0	.	11.615	0.51083	0.9314:0.0:0.0686:0.0	.	327	O60603	TLR2_HUMAN	V	327	ENSP00000260010:D327V	ENSP00000260010:D327V	D	+	2	0	TLR2	154844489	0.991000	0.36638	0.150000	0.22450	0.033000	0.12548	3.108000	0.50337	2.324000	0.78689	0.533000	0.62120	GAT	.	.	none		0.318	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			T	154625039	A	T	154625039	3	4	3	1	0	0	0	0	1	0	0	0	15948	333	12	5	982	5	TLR2	4	154625039	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	383	154625039	36529237	141	580										
RNF175	285533	hgsc.bcm.edu	37	chr4	154644537	154644537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaatccacacattgtaaacaTgatcgccaagtaacccacaa	5	12	0	1	rs10517577	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:154644537T>C	ENST00000347063.4	-	5	847	c.475A>G	c.(475-477)Atg>Gtg	p.M159V	RNF175_ENST00000274068.4_Missense_Mutation_p.M31V|RP11-153M7.5_ENST00000505051.1_RNA|RNF175_ENST00000506505.1_5'UTR	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	159			M -> V (in dbSNP:rs10517577).			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATTGTAAACATGATCGCCAAG	0.388													T|||	467	0.0932508	0.0053	0.1628	5008	,	,		16695	0.004		0.2247	False		,,,				2504	0.1196				p.M159V		Atlas-SNP	.											.	RNF175	40	.	0			c.A475G						PASS	.	T	VAL/MET	160,3704		4,152,1776	100	86	90		475	0.7	1	4	dbSNP_119	90	1923,6345		194,1535,2405	yes	missense	RNF175	NM_173662.2	21	198,1687,4181	CC,CT,TT		23.2583,4.1408,17.1695	benign	159/329	154644537	2083,10049	1932	4134	6066	SO:0001583	missense	285533	exon5			TAAACATGATCGC	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"RING-type (C3HC4) zinc fingers"	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.475A>G	4.37:g.154644537T>C	ENSP00000340979:p.Met159Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	102	8	0.0784314	NM_173662	C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	CCDS47149.1	245	0.11217948717948718	2	0.0040650406504065045	61	0.1685082872928177	1	0.0017482517482517483	181	0.23878627968337732	T	13.82	2.350213	0.41599	0.041408	0.232583	ENSG00000145428	ENST00000347063;ENST00000274068;ENST00000508248	T;T;T	0.77229	-1.08;-1.08;-1.08	4.34	0.707	0.18139	.	0.198777	0.49916	N	0.000139	T	0.00039	0.0001	L	0.55481	1.735	0.25431	P	0.9881882	P;B	0.36683	0.565;0.002	B;B	0.36335	0.222;0.008	T	0.01894	-1.1252	9	0.30854	T	0.27	-5.8208	7.4098	0.27011	0.0:0.2644:0.0:0.7356	rs10517577;rs17370896;rs52808550;rs57008646;rs10517577	31;159	Q8NB61;Q8N4F7	.;RN175_HUMAN	V	159;31;99	ENSP00000340979:M159V;ENSP00000274068:M31V;ENSP00000427472:M99V	ENSP00000274068:M31V	M	-	1	0	RNF175	154863987	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	3.291000	0.51764	0.136000	0.18733	0.455000	0.32223	ATG	T|0.917;C|0.083	0.083	strong		0.388	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		C	154644537	T	C	154644537	3	2	3	1	0	0	0	0	1	0	0	0	13463	1464	51	2	531	2	RNF175	4	154644537	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	19498	154644537	36509739	142	581										
C4orf43	55319	hgsc.bcm.edu	37	chr4	164435265	164435265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcaaaatcatcttgatccccAaaaaaagagatattcaaaga	4	8	4	3	rs2304802	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:164435265A>C	ENST00000358572.5	+	4	535	c.194A>C	c.(193-195)cAa>cCa	p.Q65P	TMA16_ENST00000513134.1_Missense_Mutation_p.Q65P|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Missense_Mutation_p.Q65P|TMA16_ENST00000513272.1_Missense_Mutation_p.Q65P	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	65			Q -> P (in dbSNP:rs2304802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)		p.Q65P(2)									CTTGATCCCCAAAAAAAGAGA	0.358													A|||	1903	0.379992	0.2504	0.6009	5008	,	,		19903	0.3423		0.4682	False		,,,				2504	0.3466				p.Q65P		Atlas-SNP	.											C4orf43,NS,carcinoma,0,2	.	.	2	2	Substitution - Missense(2)	prostate(1)|stomach(1)	c.A194C						scavenged	.	A	PRO/GLN	977,2675		145,687,994	95	86	89		194	3	0.1	4	dbSNP_100	89	3823,4325		962,1899,1213	yes	missense	C4orf43	NM_018352.2	76	1107,2586,2207	CC,CA,AA		46.9195,26.7525,40.678	benign	65/204	164435265	4800,7000	1826	4074	5900	SO:0001583	missense	55319	exon4			ATCCCCAAAAAAA		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 43"	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.194A>C	4.37:g.164435265A>C	ENSP00000351380:p.Gln65Pro	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	3	0.0545455	NM_018352	Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	CCDS43278.1	901	0.4125457875457875	124	0.25203252032520324	216	0.5966850828729282	197	0.34440559440559443	364	0.48021108179419525	A	6.442	0.449727	0.12223	0.267525	0.469195	ENSG00000198498	ENST00000358572;ENST00000513272;ENST00000513134;ENST00000508268	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.39	2.96	0.34315	.	0.787793	0.12848	N	0.434179	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	9	0.37606	T	0.19	-0.3681	8.7145	0.34403	0.8405:0.0:0.1595:0.0	rs2304802;rs3207214;rs17576322;rs17850804;rs52811362;rs2304802	65	Q96EY4	CD043_HUMAN	P	65	ENSP00000351380:Q65P;ENSP00000426933:Q65P;ENSP00000423901:Q65P;ENSP00000423375:Q65P	ENSP00000351380:Q65P	Q	+	2	0	C4orf43	164654715	0.002000	0.14202	0.068000	0.19968	0.570000	0.35934	1.401000	0.34589	0.978000	0.38470	0.528000	0.53228	CAA	C|0.418;N|0.000	0.418	strong		0.358	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		C	164435265	A	C	164435265	3	2	3	1	0	0	0	0	1	0	0	0	2271	130	5	5	208	5	C4orf43	4	164435265	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	9790728	164435265	26719011	143	582										
C4orf43	55319	hgsc.bcm.edu	37	chr4	164440581	164440581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gacgtgcaagaggaaaactaTtataactgtagaccaagatt	9	6	0	3	rs1561736	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:164440581T>C	ENST00000358572.5	+	7	868	c.527T>C	c.(526-528)aTt>aCt	p.I176T	TMA16_ENST00000513134.1_Intron|TMA16_ENST00000513272.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	176			I -> T (in dbSNP:rs1561736). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)		p.I176T(1)									AGGAAAACTATTATAACTGTA	0.373													T|||	1916	0.382588	0.2526	0.6052	5008	,	,		18042	0.3423		0.4742	False		,,,				2504	0.3476				p.I176T		Atlas-SNP	.											C4orf43,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.T527C						scavenged	.	T	THR/ILE	1026,2688		147,732,978	53	53	53		527	-0.5	0	4	dbSNP_88	53	3916,4252		965,1986,1133	no	missense	C4orf43	NM_018352.2	89	1112,2718,2111	CC,CT,TT		47.9432,27.6252,41.5923	benign	176/204	164440581	4942,6940	1857	4084	5941	SO:0001583	missense	55319	exon7			AAACTATTATAAC		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 43"	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.527T>C	4.37:g.164440581T>C	ENSP00000351380:p.Ile176Thr	Somatic	441	0	0		WXS	Illumina HiSeq	Phase_I	455	17	0.0373626	NM_018352	Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	CCDS43278.1	901	0.4125457875457875	124	0.25203252032520324	216	0.5966850828729282	197	0.34440559440559443	364	0.48021108179419525	T	2.009	-0.427555	0.04701	0.276252	0.479432	ENSG00000198498	ENST00000358572	T	0.21734	1.99	5.05	-0.516	0.11950	.	1.344700	0.04600	N	0.398357	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	9	0.07990	T	0.79	3.0277	3.462	0.07536	0.3859:0.1705:0.0:0.4436	rs1561736;rs3207217;rs17043749;rs17845311;rs17858149;rs1561736	176	Q96EY4	CD043_HUMAN	T	176	ENSP00000351380:I176T	ENSP00000351380:I176T	I	+	2	0	C4orf43	164660031	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.439000	0.06897	-0.127000	0.11661	0.533000	0.62120	ATT	T|0.582;C|0.418	0.418	strong		0.373	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		C	164440581	T	C	164440581	3	2	3	1	0	0	0	0	1	0	0	0	2271	1493	52	2	553	2	C4orf43	4	164440581	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	5316	164440581	26713695	144	583										
ANXA10	11199	hgsc.bcm.edu	37	chr4	169083694	169083694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacaggacctgattggggatAtgagggagcagctttcggat	15	7	0	2	rs6836994	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:169083694A>C	ENST00000359299.3	+	4	397	c.211A>C	c.(211-213)Atg>Ctg	p.M71L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	71			M -> L (in dbSNP:rs6836994). {ECO:0000269|PubMed:10458909}.			mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.M71L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GATTGGGGATATGAGGGAGCA	0.408													C|||	2670	0.533147	0.7436	0.4697	5008	,	,		19208	0.2431		0.5944	False		,,,				2504	0.5297				p.M71L		Atlas-SNP	.											ANXA10,NS,carcinoma,0,1	ANXA10	44	1	1	Substitution - Missense(1)	stomach(1)	c.A211C						PASS	.	C	LEU/MET	3149,1257	429.3+/-342.2	1135,879,189	83	74	77		211	2.6	0.5	4	dbSNP_116	77	5017,3583	518.7+/-379.3	1468,2081,751	yes	missense	ANXA10	NM_007193.4	15	2603,2960,940	CC,CA,AA		41.6628,28.5293,37.2136	benign	71/325	169083694	8166,4840	2203	4300	6503	SO:0001583	missense	11199	exon4			GGGGATATGAGGG	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.211A>C	4.37:g.169083694A>C	ENSP00000352248:p.Met71Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	161	8	0.0496894	NM_007193	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	1108	0.5073260073260073	342	0.6951219512195121	193	0.5331491712707183	135	0.23601398601398602	438	0.5778364116094987	C	0.016	-1.511852	0.00984	0.714707	0.583372	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03580	3.88	5.2	2.56	0.30785	.	0.000000	0.56097	N	0.000032	T	0.00012	0.0000	N	0.00024	-2.7	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.23833	-1.0177	9	0.02654	T	1	.	6.4784	0.22049	0.1276:0.6594:0.0:0.2129	rs6836994;rs17610675;rs52801942;rs60731173;rs6836994	71	Q9UJ72	ANX10_HUMAN	L	71	ENSP00000352248:M71L	ENSP00000352248:M71L	M	+	1	0	ANXA10	169320269	1.000000	0.71417	0.522000	0.27862	0.304000	0.27724	1.619000	0.36965	0.058000	0.16222	-0.883000	0.02948	ATG	A|0.419;C|0.580	0.580	strong		0.408	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		C	169083694	A	C	169083694	3	2	3	1	0	0	0	0	1	0	0	0	715	449	16	5	225	5	ANXA10	4	169083694	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	4643113	169083694	22070582	145	584										
ANXA10	11199	hgsc.bcm.edu	37	chr4	169086441	169086441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gacatttattcagagacctcAggacacttcagagatactct	7	10	4	2	rs4405979	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:169086441A>G	ENST00000359299.3	+	6	630	c.444A>G	c.(442-444)tcA>tcG	p.S148S		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	148						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.S148S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGAGACCTCAGGACACTTCA	0.343													G|||	2669	0.532947	0.7443	0.4697	5008	,	,		15966	0.2421		0.5934	False		,,,				2504	0.5297				p.S148S		Atlas-SNP	.											ANXA10,NS,carcinoma,0,1	ANXA10	44	1	1	Substitution - coding silent(1)	stomach(1)	c.A444G						scavenged	.	G		3148,1258	427.6+/-341.6	1135,878,190	80	83	82		444	-10.5	0.7	4	dbSNP_111	82	5018,3580	518.1+/-379.2	1469,2080,750	no	coding-synonymous	ANXA10	NM_007193.4		2604,2958,940	GG,GA,AA		41.6376,28.552,37.2039		148/325	169086441	8166,4838	2203	4299	6502	SO:0001819	synonymous_variant	11199	exon6			GACCTCAGGACAC	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.444A>G	4.37:g.169086441A>G		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	223	6	0.0269058	NM_007193	Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	CCDS34096.1																																																																																			A|0.421;G|0.579	0.579	strong		0.343	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		G	169086441	A	G	169086441	2	3	3	1	0	0	0	0	0	0	0	1	715	175	7	3		3	ANXA10	4	169086441	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2747	169086441	22067835	146	585										
DDX60	55601	hgsc.bcm.edu	37	chr4	169197297	169197297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggagtggatccttttcatcaCctgaacagctatacttaaat	7	9	2	1	rs550625	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:169197297C>T	ENST00000393743.3	-	15	2305	c.2014G>A	c.(2014-2016)Gtg>Atg	p.V672M		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	672			V -> M (in dbSNP:rs550625).		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTTTCATCACCTGAACAGCT	0.318													T|||	668	0.133387	0.2284	0.1671	5008	,	,		17475	0.12		0.0815	False		,,,				2504	0.0481				p.V672M		Atlas-SNP	.											DDX60_ENST00000393743,NS,carcinoma,+2,2	DDX60	304	2	0			c.G2014A						scavenged	.	T	MET/VAL	838,3568	743.6+/-411.5	82,674,1447	118	116	116		2014	2.7	0.9	4	dbSNP_83	116	535,8065	794.2+/-407.5	19,497,3784	yes	missense	DDX60	NM_017631.5	21	101,1171,5231	TT,TC,CC		6.2209,19.0195,10.5567	benign	672/1713	169197297	1373,11633	2203	4300	6503	SO:0001583	missense	55601	exon15			TCATCACCTGAAC	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2014G>A	4.37:g.169197297C>T	ENSP00000377344:p.Val672Met	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	133	4	0.0300752	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	312	0.14285714285714285	127	0.258130081300813	52	0.143646408839779	72	0.1258741258741259	61	0.08047493403693931	T	0.061	-1.224366	0.01530	0.190195	0.062209	ENSG00000137628	ENST00000393743	T	0.19806	2.12	5.15	2.67	0.31697	.	0.351400	0.28420	N	0.015411	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.37502	-0.9703	9	0.06365	T	0.9	.	1.8745	0.03215	0.1217:0.2224:0.1257:0.5302	rs550625;rs52803136;rs58603390;rs550625	672	Q8IY21	DDX60_HUMAN	M	672	ENSP00000377344:V672M	ENSP00000377344:V672M	V	-	1	0	DDX60	169433872	0.016000	0.18221	0.857000	0.33713	0.730000	0.41778	-0.133000	0.10451	0.353000	0.24079	-0.381000	0.06696	GTG	C|0.882;T|0.118	0.118	strong		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169197297	C	T	169197297	3	4	3	1	0	0	0	0	1	0	0	0	4378	507	18	2	3220	2	DDX60	4	169197297	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	110856	169197297	21956979	147	586										
SPATA4	132851	hgsc.bcm.edu	37	chr4	177113836	177113836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtaaaaggatgaggaactcCgctttaagttcattggtcag	11	6	2	1	rs6832177	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:177113836C>T	ENST00000280191.2	-	4	738	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SPATA4_ENST00000515234.1_Silent_p.A37A	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	210						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TGAGGAACTCCGCTTTAAGTT	0.373													c|||	1416	0.282748	0.2239	0.3646	5008	,	,		17787	0.255		0.3708	False		,,,				2504	0.2423				p.A210A		Atlas-SNP	.											SPATA4,NS,carcinoma,-1,1	SPATA4	44	1	0			c.G630A						scavenged	.	C		1120,3286	398.3+/-330.8	147,826,1230	88	91	90		630	-3.7	0	4	dbSNP_116	90	3042,5558	466.9+/-366.9	551,1940,1809	no	coding-synonymous	SPATA4	NM_144644.2		698,2766,3039	TT,TC,CC		35.3721,25.4199,32.0006		210/306	177113836	4162,8844	2203	4300	6503	SO:0001819	synonymous_variant	132851	exon4			GAACTCCGCTTTA	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.630G>A	4.37:g.177113836C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	212	3	0.0141509	NM_144644	Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	CCDS3826.1																																																																																			C|0.701;T|0.299	0.299	strong		0.373	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		T	177113836	C	T	177113836	2	4	3	1	0	0	0	0	0	0	0	1	15009	639	23	1		1	SPATA4	4	177113836	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	7916539	177113836	14040440	148	587										
TLR3	7098	hgsc.bcm.edu	37	chr4	187004217	187004217	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agaggtctagaaaatattttCgaaatctatctttcctacaa	5	7	3	2	rs3775290	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr4:187004217C>T	ENST00000296795.3	+	4	1481	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	TLR3_ENST00000504367.1_Silent_p.F182F	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	459					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAAATATTTTCGAAATCTATC	0.478													C|||	1363	0.272165	0.1861	0.2738	5008	,	,		19762	0.3363		0.2734	False		,,,				2504	0.32				p.F459F		Atlas-SNP	.											TLR3,caecum,carcinoma,0,1	TLR3	83	1	0			c.C1377T						scavenged	.	C		869,3537	325.6+/-299.2	91,687,1425	61	61	61		1377	0.3	0.5	4	dbSNP_107	61	2661,5939	415.9+/-351.9	396,1869,2035	yes	coding-synonymous	TLR3	NM_003265.2		487,2556,3460	TT,TC,CC		30.9419,19.7231,27.1413		459/905	187004217	3530,9476	2203	4300	6503	SO:0001819	synonymous_variant	7098	exon4			TATTTTCGAAATC	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1377C>T	4.37:g.187004217C>T		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	198	9	0.0454545	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																			C|0.727;T|0.273	0.273	strong		0.478	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			T	187004217	C	T	187004217	2	4	3	1	0	0	0	0	0	0	0	1	15949	883	31	1		1	TLR3	4	187004217	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	9890381	187004217	4150059	149	588										
SLC9A3	6550	hgsc.bcm.edu	37	chr5	483564	483564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccgagatgttggccttcacAtacttctgacagcagatgcc	9	12	2	3	rs56098739	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:483564A>G	ENST00000264938.3	-	6	975	c.966T>C	c.(964-966)taT>taC	p.Y322Y	CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.Y322Y|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	322					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGCCTTCACATACTTCTGAC	0.632													a|||	512	0.102236	0.0068	0.2061	5008	,	,		17448	0.001		0.2793	False		,,,				2504	0.0798				p.Y322Y		Atlas-SNP	.											SLC9A3,NS,carcinoma,0,1	SLC9A3	89	1	0			c.T966C						scavenged	.	A		215,4179		4,207,1986	45	32	37		966	-2.6	1	5	dbSNP_129	37	2096,6494		276,1544,2475	no	coding-synonymous	SLC9A3	NM_004174.2		280,1751,4461	GG,GA,AA		24.4005,4.893,17.7988		322/835	483564	2311,10673	2197	4295	6492	SO:0001819	synonymous_variant	6550	exon6			CTTCACATACTTC		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.966T>C	5.37:g.483564A>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	176	5	0.0284091	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			A|0.839;G|0.161	0.161	strong		0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		G	483564	A	G	483564	2	3	3	1	0	0	0	0	0	0	0	1	14713	224	8	2		2	SLC9A3	5	483564	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10		483564	180431696	150	589										
TAS2R1	50834	hgsc.bcm.edu	37	chr5	9629529	9629529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cactgtgtttctcatttgccGggtgtgcctccccagagaga	11	12	1	2	rs2234233	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:9629529G>A	ENST00000382492.2	-	1	934	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	206			R -> W (in dbSNP:rs2234233).		chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.R206W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CTCATTTGCCGGGTGTGCCTC	0.507													G|||	572	0.114217	0.028	0.1268	5008	,	,		17670	0.1071		0.1521	False		,,,				2504	0.1902				p.R206W		Atlas-SNP	.											TAS2R1,NS,carcinoma,0,1	TAS2R1	84	1	1	Substitution - Missense(1)	stomach(1)	c.C616T						scavenged	.	G	TRP/ARG	216,4190	121.3+/-158.8	8,200,1995	47	55	53		616	-11.3	0	5	dbSNP_98	53	1422,7178	266.3+/-286.6	113,1196,2991	yes	missense	TAS2R1	NM_019599.2	101	121,1396,4986	AA,AG,GG		16.5349,4.9024,12.5942	benign	206/300	9629529	1638,11368	2203	4300	6503	SO:0001583	missense	50834	exon1			TTTGCCGGGTGTG	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.616C>T	5.37:g.9629529G>A	ENSP00000371932:p.Arg206Trp	Somatic	90	1	0.0111111		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_019599	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	255	0.11675824175824176	15	0.03048780487804878	48	0.13259668508287292	75	0.13111888111888112	117	0.15435356200527706	G	11.62	1.692461	0.30052	0.049024	0.165349	ENSG00000169777	ENST00000382492	T	0.00986	5.47	5.65	-11.3	0.00108	.	1.250620	0.06042	N	0.655136	T	0.00012	0.0000	N	0.05574	-0.02	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.48559	-0.9025	8	.	.	.	.	2.3549	0.04293	0.2929:0.0693:0.3959:0.242	rs2234233;rs52805045;rs60592533;rs2234233	206	Q9NYW7	TA2R1_HUMAN	W	206	ENSP00000371932:R206W	.	R	-	1	2	TAS2R1	9682529	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.202000	0.09451	-2.320000	0.00642	-0.880000	0.02959	CGG	G|0.878;A|0.122	0.122	strong		0.507	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629529	G	A	9629529	3	1	3	1	0	0	0	0	1	0	0	0	15562	1115	39	1	287	1	TAS2R1	5	9629529	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	9145965	9629529	171285731	151	590										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13762972	13762972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcaaagtaaggactcaaaaaTtctatcacctcttcattgat	4	9	6	1	rs6554812	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:13762972T>C	ENST00000265104.4	-	60	10244	c.10140A>G	c.(10138-10140)gaA>gaG	p.E3380E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3380	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCAAAAATTCTATCACCT	0.373									Kartagener syndrome				C|||	1554	0.310304	0.3722	0.2709	5008	,	,		21726	0.1052		0.3012	False		,,,				2504	0.4755				p.E3380E		Atlas-SNP	.											DNAH5,NS,carcinoma,-2,1	DNAH5	868	1	0			c.A10140G						scavenged	.	C		1601,2805	665.6+/-401.6	294,1013,896	77	74	75		10140	-5.2	0.7	5	dbSNP_116	75	2272,6328	707.4+/-405.6	306,1660,2334	no	coding-synonymous	DNAH5	NM_001369.2		600,2673,3230	CC,CT,TT		26.4186,36.3368,29.7786		3380/4625	13762972	3873,9133	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon60	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CAAAAATTCTATC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10140A>G	5.37:g.13762972T>C		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	120	5	0.0416667	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			T|0.714;C|0.286	0.286	strong		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13762972	T	C	13762972	2	2	3	1	0	0	0	0	0	0	0	1	4604	1490	52	2		2	DNAH5	5	13762972	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	4133443	13762972	167152288	152	591										
CDH12	1010	hgsc.bcm.edu	37	chr5	21752050	21752050	+	Silent	SNP	A	A	G													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcgtatggtggggcagttggAtccacatcattttcctgtag					rs6451992	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:21752050A>G	ENST00000382254.1	-	15	3267	c.2181T>C	c.(2179-2181)gaT>gaC	p.D727D	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.D727D|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.D687D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	727					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)	p.D727D(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGGCAGTTGGATCCACATCAT	0.493										HNSCC(59;0.17)			G|||	2748	0.548722	0.3782	0.6268	5008	,	,		15734	0.4355		0.7475	False		,,,				2504	0.636				p.D727D		Atlas-SNP	.											CDH12,NS,carcinoma,0,1	CDH12	238	1	1	Substitution - coding silent(1)	stomach(1)	c.T2181C						scavenged	.	G		2006,2400	614.5+/-392.4	454,1098,651	243	207	219		2181	0.3	0.6	5	dbSNP_116	219	6327,2273	383.0+/-340.6	2333,1661,306	no	coding-synonymous	CDH12	NM_004061.3		2787,2759,957	GG,GA,AA		26.4302,45.5288,35.9296		727/795	21752050	8333,4673	2203	4300	6503	SO:0001819	synonymous_variant	1010	exon15			AGTTGGATCCACA	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2181T>C	5.37:g.21752050A>G		Somatic	174	2	0.0114943		WXS	Illumina HiSeq	Phase_I	211	9	0.042654	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																			A|0.382;G|0.618	0.618	strong		0.493	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		G	21752050	A	G	21752050	2	3	3	1	0	0	0	0	0	0	0	1	3098	330	12	2		2	CDH12	5	21752050	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	7989078	21752050	159163210	153	592	15	2								
CDH12	1010	hgsc.bcm.edu	37	chr5	21752056	21752056	+	Silent	SNP	A	A	G													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggtggggcagttggatccacAtcattttcctgtagcctttg					rs6451993	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:21752056A>G	ENST00000382254.1	-	15	3261	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.D725D|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.D685D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	725					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)	p.D725D(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGGATCCACATCATTTTCCT	0.478										HNSCC(59;0.17)			A|||	2750	0.549121	0.3775	0.6282	5008	,	,		16061	0.4365		0.7485	False		,,,				2504	0.636				p.D725D		Atlas-SNP	.											CDH12,NS,carcinoma,0,1	CDH12	238	1	1	Substitution - coding silent(1)	stomach(1)	c.T2175C						scavenged	.	A		2000,2406	560.5+/-380.5	451,1098,654	257	218	231		2175	-7.7	0	5	dbSNP_116	231	6333,2267	708.1+/-405.6	2338,1657,305	no	coding-synonymous	CDH12	NM_004061.3		2789,2755,959	GG,GA,AA		26.3605,45.3926,35.9296		725/795	21752056	8333,4673	2203	4300	6503	SO:0001819	synonymous_variant	1010	exon15			ATCCACATCATTT	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2175T>C	5.37:g.21752056A>G		Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	202	7	0.0346535	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																			A|0.402;G|0.598	0.598	strong		0.478	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		G	21752056	A	G	21752056	2	3	3	1	0	0	0	0	0	0	0	1	3098	214	8	2		2	CDH12	5	21752056	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	6	21752056	159163204	154	593	15	2								
CDH9	1007	hgsc.bcm.edu	37	chr5	26988328	26988328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgtcatcttttgtcagacccGctatctttttgcttgataaa	6	10	4	2	rs2288466	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:26988328G>A	ENST00000231021.4	-	2	285	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	38			A -> V (in dbSNP:rs2288466). {ECO:0000269|PubMed:15489334}.		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCAGACCCGCTATCTTTTT	0.393													A|||	1910	0.38139	0.6936	0.2666	5008	,	,		15880	0.1508		0.4712	False		,,,				2504	0.1861				p.A38V	Melanoma(8;187 585 15745 40864 52829)	Atlas-SNP	.											CDH9,NS,carcinoma,+1,1	CDH9	305	1	0			c.C113T						PASS	.	A	VAL/ALA	3019,1387	457.8+/-351.8	1046,927,230	139	135	136		113	3.3	0	5	dbSNP_100	136	4305,4295	576.0+/-390.3	1099,2107,1094	yes	missense	CDH9	NM_016279.3	64	2145,3034,1324	AA,AG,GG		49.9419,31.4798,43.6875	benign	38/790	26988328	7324,5682	2203	4300	6503	SO:0001583	missense	1007	exon2			AGACCCGCTATCT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.113C>T	5.37:g.26988328G>A	ENSP00000231021:p.Ala38Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	177	9	0.0508475	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	901	0.4125457875457875	324	0.6585365853658537	113	0.31215469613259667	98	0.17132867132867133	366	0.48284960422163586	A	3.005	-0.205196	0.06180	0.685202	0.500581	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.57436	0.51;0.4;1.94	5.64	3.28	0.37604	.	1.138130	0.06392	N	0.717309	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.46091	-0.9216	8	.	.	.	.	8.4322	0.32764	0.6064:0.0:0.3936:0.0	rs2288466;rs17565545;rs52826250;rs57578097;rs2288466	38;38	E7EPN0;Q9ULB4	.;CADH9_HUMAN	V	38	ENSP00000231021:A38V;ENSP00000426239:A38V;ENSP00000422538:A38V	.	A	-	2	0	CDH9	27024085	0.000000	0.05858	0.014000	0.15608	0.685000	0.39939	0.479000	0.22228	0.109000	0.17891	-0.332000	0.08345	GCG	G|0.501;A|0.499	0.499	strong		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26988328	G	A	26988328	3	1	3	1	0	0	0	0	1	0	0	0	3117	1087	38	1	2300	1	CDH9	5	26988328	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5236272	26988328	153926932	155	594										
SLC30A5	64924	hgsc.bcm.edu	37	chr5	68419054	68419054	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctacatgttttggcagatacActtggcagcattggtgtgat	11	7	0	2	rs164572	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:68419054A>T	ENST00000396591.3	+	14	2410	c.1800A>T	c.(1798-1800)acA>acT	p.T600T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	600					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGCAGATACACTTGGCAGCA	0.318													A|||	2015	0.402356	0.2519	0.4107	5008	,	,		18363	0.5397		0.4225	False		,,,				2504	0.4376				p.T600T		Atlas-SNP	.											.	SLC30A5	54	.	0			c.A1800T						PASS	.	A		1157,3249	410.2+/-335.3	142,873,1188	129	114	119		1800	-1.5	1	5	dbSNP_79	119	3721,4879	533.2+/-382.4	829,2063,1408	no	coding-synonymous	SLC30A5	NM_022902.3		971,2936,2596	TT,TA,AA		43.2674,26.2596,37.5058		600/766	68419054	4878,8128	2203	4300	6503	SO:0001819	synonymous_variant	64924	exon14			AGATACACTTGGC	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1800A>T	5.37:g.68419054A>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																			A|0.607;T|0.393	0.393	strong		0.318	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68419054	A	T	68419054	2	4	3	1	0	0	0	0	0	0	0	1	14558	146	6	5		5	SLC30A5	5	68419054	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	41430726	68419054	112496206	156	595										
SPZ1	84654	hgsc.bcm.edu	37	chr5	79616573	79616573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaacctgcctgttagtttagCcccagagaaagaagacaatg	9	9	0	3	rs184214819	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:79616573C>A	ENST00000296739.4	+	1	784	c.539C>A	c.(538-540)gCc>gAc	p.A180D		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	180	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GTTAGTTTAGCCCCAGAGAAA	0.378													C|||	10	0.00199681	0.0008	0.0043	5008	,	,		19027	0.0		0.006	False		,,,				2504	0.0				p.A180D		Atlas-SNP	.											SPZ1,NS,carcinoma,0,1	SPZ1	60	1	0			c.C539A						scavenged	.	C	ASP/ALA	6,3620		0,6,1807	68	60	63		539	2.3	0.1	5		63	57,8105		1,55,4025	yes	missense	SPZ1	NM_032567.3	126	1,61,5832	AA,AC,CC		0.6984,0.1655,0.5344	benign	180/431	79616573	63,11725	1813	4081	5894	SO:0001583	missense	84654	exon1			GTTTAGCCCCAGA		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.539C>A	5.37:g.79616573C>A	ENSP00000369611:p.Ala180Asp	Somatic	386	4	0.0103627		WXS	Illumina HiSeq	Phase_I	372	8	0.0215054	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	C	0.426	-0.905788	0.02453	0.001655	0.006984	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.36157	1.27;1.68	3.49	2.28	0.28536	.	0.848170	0.10050	N	0.722365	T	0.05823	0.0152	N	0.00446	-1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34354	-0.9832	10	0.08837	T	0.75	-1.471	4.3657	0.11223	0.5276:0.2846:0.0:0.1878	.	180	Q9BXG8	SPZ1_HUMAN	D	180	ENSP00000426530:A180D;ENSP00000369611:A180D	ENSP00000369611:A180D	A	+	2	0	SPZ1	79652329	0.004000	0.15560	0.105000	0.21289	0.407000	0.30961	0.932000	0.28884	0.628000	0.30357	-0.563000	0.04171	GCC	C|0.995;A|0.005	0.005	strong		0.378	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		A	79616573	C	A	79616573	3	1	3	1	0	0	0	0	1	0	0	0	15126	739	26	4	541	4	SPZ1	5	79616573	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	11197519	79616573	101298687	157	596										
VCAN	1462	hgsc.bcm.edu	37	chr5	82834316	82834316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacgtagtcctgcctctgtcTttatggagcagggctctgga	12	11	3	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:82834316T>C	ENST00000265077.3	+	8	6059	c.5494T>C	c.(5494-5496)Ttt>Ctt	p.F1832L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.F845L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1832	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCCTCTGTCTTTATGGAGCA	0.498																																					p.F1832L		Atlas-SNP	.											.	VCAN	498	.	0			c.T5494C						PASS	.						78	86	83					5																	82834316		2203	4299	6502	SO:0001583	missense	1462	exon8			TCTGTCTTTATGG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5494T>C	5.37:g.82834316T>C	ENSP00000265077:p.Phe1832Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	89	34	0.382022	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596304	0.46318	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85484	-1.98;-1.99;3.27	5.82	3.13	0.36017	.	0.288191	0.30547	N	0.009390	T	0.79263	0.4416	L	0.49350	1.555	0.18873	N	0.999989	B;B	0.25390	0.037;0.125	B;B	0.22386	0.039;0.028	T	0.66532	-0.5900	10	0.31617	T	0.26	.	10.9593	0.47376	0.0:0.1464:0.0:0.8536	.	845;1832	P13611-2;P13611	.;CSPG2_HUMAN	L	1832;845;845	ENSP00000265077:F1832L;ENSP00000340062:F845L;ENSP00000426251:F845L	ENSP00000265077:F1832L	F	+	1	0	VCAN	82870072	0.111000	0.22076	0.003000	0.11579	0.350000	0.29205	2.000000	0.40816	1.035000	0.39972	0.533000	0.62120	TTT	.	.	none		0.498	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82834316	T	C	82834316	3	2	3	1	0	0	0	0	1	0	0	0	17135	1609	56	3	5520	3	VCAN	5	82834316	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3217743	82834316	98080944	158	597										
SHROOM1	134549	hgsc.bcm.edu	37	chr5	132159134	132159134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccgcttggcgcctggcccaCgcttgtgcctccccctgcag	12	19	0	0	rs4705870	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:132159134C>T	ENST00000378679.3	-	9	2838	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Silent_p.A609A|SHROOM1_ENST00000319854.3_Silent_p.A678A	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	678	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCTGGCCCACGCTTGTGCCT	0.682													C|||	557	0.111222	0.053	0.085	5008	,	,		14199	0.1171		0.1262	False		,,,				2504	0.1871				p.A678A		Atlas-SNP	.											.	SHROOM1	35	.	0			c.G2034A						PASS	.	C	,	255,4131		9,237,1947	16	20	19		2034,2034	-9.5	0	5	dbSNP_111	19	1207,7361		90,1027,3167	no	coding-synonymous,coding-synonymous	SHROOM1	NM_001172700.1,NM_133456.2	,	99,1264,5114	TT,TC,CC		14.0873,5.814,11.2861	,	678/853,678/848	132159134	1462,11492	2193	4284	6477	SO:0001819	synonymous_variant	134549	exon6			GGCCCACGCTTGT	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2034G>A	5.37:g.132159134C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	66	5	0.0757576	NM_133456	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	CCDS54902.1																																																																																			C|0.888;T|0.112	0.112	strong		0.682	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132159134	C	T	132159134	2	4	3	1	0	0	0	0	0	0	0	1	14293	523	19	1		1	SHROOM1	5	132159134	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	49324818	132159134	48756126	159	598										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0				p.A526A		Atlas-SNP	.											PCDHB7,NS,carcinoma,0,4	PCDHB7	231	4	1	Substitution - coding silent(1)	lung(1)	c.G1578T						scavenged	.						62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	205	7	0.0341463	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.	.	weak		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553994	G	T	140553994	2	4	3	1	0	0	0	0	0	0	0	1	11547	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8394860	140553994	40361266	160	599										
PCDHGA2	56113	hgsc.bcm.edu	37	chr5	140720954	140720954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagaagaaagagaagaaacgTtttctcaggtaatctatctt	8	5	3	4	rs66823521	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:140720954T>C	ENST00000394576.2	+	1	2416	c.2416T>C	c.(2416-2418)Ttt>Ctt	p.F806L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	806					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAACGTTTTCTCAGGT	0.393													t|||	223	0.0445288	0.0076	0.085	5008	,	,		21252	0.001		0.1292	False		,,,				2504	0.0235				p.F806L		Atlas-SNP	.											PCDHG_cluster,NS,carcinoma,-2,2	PCDHGA2	205	2	0			c.T2416C						scavenged	.	T	,LEU/PHE,LEU/PHE	119,4283		1,117,2083	60	64	63		,2416,2416	-0.9	0	5	dbSNP_130	63	1136,7464		65,1006,3229	yes	intron,missense,missense	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,22,22	66,1123,5312	CC,CT,TT		13.2093,2.7033,9.6524	,,	,806/933,806/824	140720954	1255,11747	2201	4300	6501	SO:0001583	missense	56113	exon1			GAAACGTTTTCTC	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2416T>C	5.37:g.140720954T>C	ENSP00000378077:p.Phe806Leu	Somatic	276	1	0.00362319		WXS	Illumina HiSeq	Phase_I	225	5	0.0222222	NM_018915	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	123	0.05631868131868132	4	0.008130081300813009	29	0.08011049723756906	0	0.0	90	0.11873350923482849	.	0.234	-1.018508	0.02078	0.027033	0.132093	ENSG00000081853	ENST00000394576	T	0.42900	0.96	3.35	-0.876	0.10624	.	1.381570	0.05478	N	0.554274	T	0.00109	0.0003	N	0.00666	-1.275	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.12863	-1.0531	9	0.06099	T	0.92	.	1.4049	0.02279	0.2755:0.0896:0.1576:0.4774	.	806;806	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	806	ENSP00000378077:F806L	ENSP00000378077:F806L	F	+	1	0	PCDHGA2	140701138	0.003000	0.15002	0.004000	0.12327	0.030000	0.12068	0.938000	0.28965	-0.250000	0.09555	0.402000	0.26972	TTT	T|0.910;C|0.090	0.090	strong		0.393	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		C	140720954	T	C	140720954	3	2	3	1	0	0	0	0	1	0	0	0	11554	1725	60	2	2418	2	PCDHGA2	5	140720954	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	166960	140720954	40194306	161	600										
SH3RF2	153769	hgsc.bcm.edu	37	chr5	145393493	145393493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagccttgaacactctcaacCggatggtccattctccttca	6	15	3	1	rs149514957	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:145393493C>T	ENST00000511217.1	+	4	980	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R310W			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	310					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCTCAACCGGATGGTCCA	0.582													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20839	0.0		0.0	False		,,,				2504	0.0				p.R310W		Atlas-SNP	.											.	SH3RF2	58	.	0			c.C928T						PASS	.	C	TRP/ARG	25,4381	31.7+/-61.6	0,25,2178	116	111	113		928	3.1	1	5	dbSNP_134	113	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SH3RF2	NM_152550.3	101	0,30,6473	TT,TC,CC		0.0581,0.5674,0.2307	probably-damaging	310/730	145393493	30,12976	2203	4300	6503	SO:0001583	missense	153769	exon5			CTCAACCGGATGG	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.928C>T	5.37:g.145393493C>T	ENSP00000424497:p.Arg310Trp	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	171	7	0.0409357	NM_152550	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.88	3.908505	0.72868	0.005674	5.81E-4	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.06933	3.24;3.24	5.32	3.13	0.36017	.	0.136685	0.47455	D	0.000225	T	0.05960	0.0155	N	0.24115	0.695	0.36239	D	0.853162	D	0.67145	0.996	P	0.46885	0.53	T	0.18967	-1.0320	10	0.87932	D	0	-19.15	13.4697	0.61276	0.651:0.349:0.0:0.0	.	310	Q8TEC5	SH3R2_HUMAN	W	310	ENSP00000352028:R310W;ENSP00000424497:R310W	ENSP00000352028:R310W	R	+	1	2	SH3RF2	145373686	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.596000	0.46205	0.529000	0.28599	-0.293000	0.09583	CGG	C|0.998;T|0.002	0.002	strong		0.582	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145393493	C	T	145393493	3	4	3	1	0	0	0	0	1	0	0	0	14259	643	23	1	942	1	SH3RF2	5	145393493	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	4672539	145393493	35521767	162	601										
GEMIN5	25929	hgsc.bcm.edu	37	chr5	154300940	154300940	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	actggtggcccccaggctaaAgtatatacagtcttcttatg	9	10	2	0	rs348739	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:154300940A>C	ENST00000285873.7	-	10	1500	c.1425T>G	c.(1423-1425)acT>acG	p.T475T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	475					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGCTAAAGTATATACAG	0.388													A|||	3950	0.788738	0.5711	0.7666	5008	,	,		15413	0.8919		0.8867	False		,,,				2504	0.8916				p.T475T		Atlas-SNP	.											GEMIN5,colon,carcinoma,-2,1	GEMIN5	120	1	0			c.T1425G						scavenged	.	A		2800,1606	661.5+/-400.9	905,990,308	78	89	85		1425	-10.9	0	5	dbSNP_79	85	7832,768	784.5+/-407.6	3562,708,30	no	coding-synonymous	GEMIN5	NM_015465.3		4467,1698,338	CC,CA,AA		8.9302,36.4503,18.2531		475/1509	154300940	10632,2374	2203	4300	6503	SO:0001819	synonymous_variant	25929	exon10			GGCTAAAGTATAT	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1425T>G	5.37:g.154300940A>C		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	91	3	0.032967	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																			A|0.188;C|0.812	0.812	strong		0.388	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			C	154300940	A	C	154300940	2	2	3	1	0	0	0	0	0	0	0	1	6331	59	3	5		5	GEMIN5	5	154300940	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	8907447	154300940	26614320	163	602										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169127097	169127097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccacacctggtggacaggacCaccgtggtggccaggaagct	14	13	0	0	rs2112703	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr5:169127097C>A	ENST00000256935.8	+	13	1292	c.1212C>A	c.(1210-1212)acC>acA	p.T404T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	404					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGACAGGACCACCGTGGTGG	0.567													C|||	609	0.121605	0.0363	0.0893	5008	,	,		17531	0.122		0.2048	False		,,,				2504	0.1738				p.T404T		Atlas-SNP	.											.	DOCK2	389	.	0			c.C1212A						PASS	.	C		323,4083	171.9+/-202.1	18,287,1898	160	146	151		1212	1.6	1	5	dbSNP_96	151	1783,6817	322.8+/-315.7	197,1389,2714	no	coding-synonymous	DOCK2	NM_004946.2		215,1676,4612	AA,AC,CC		20.7326,7.3309,16.1925		404/1831	169127097	2106,10900	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon13			CAGGACCACCGTG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1212C>A	5.37:g.169127097C>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	49	4	0.0816327	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			C|0.852;A|0.148	0.148	strong		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169127097	C	A	169127097	2	1	3	1	0	0	0	0	0	0	0	1	4687	581	21	4		4	DOCK2	5	169127097	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	14826157	169127097	11788163	164	603										
SERPINB6	5269	hgsc.bcm.edu	37	chr6	2959513	2959513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcgagttgtctttacccagCgttttcaaaaggtttaaggc	9	8	2	0	rs2236277	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:2959513C>T	ENST00000380520.1	-	1	2048	c.54G>A	c.(52-54)acG>acA	p.T18T	SERPINB6_ENST00000380539.1_Silent_p.T18T|SERPINB6_ENST00000335686.5_Silent_p.T18T|SERPINB6_ENST00000380529.1_Silent_p.T18T|SERPINB6_ENST00000380546.3_Silent_p.T18T|SERPINB6_ENST00000380524.1_Silent_p.T18T			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	18					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T18T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTTTACCCAGCGTTTTCAAAA	0.468													C|||	1709	0.341254	0.1513	0.4539	5008	,	,		21942	0.4841		0.338	False		,,,				2504	0.3742				p.T37T		Atlas-SNP	.											SERPINB6,NS,carcinoma,0,1	SERPINB6	31	1	1	Substitution - coding silent(1)	stomach(1)	c.G111A						PASS	.	C	,	805,3601	323.7+/-298.2	76,653,1474	148	134	139		54,54	-1.1	0.3	6	dbSNP_98	139	2761,5839	439.8+/-359.3	427,1907,1966	no	coding-synonymous,coding-synonymous	SERPINB6	NM_001195291.1,NM_004568.5	,	503,2560,3440	TT,TC,CC		32.1047,18.2705,27.4181	,	18/377,18/377	2959513	3566,9440	2203	4300	6503	SO:0001819	synonymous_variant	5269	exon2			ACCCAGCGTTTTC	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.54G>A	6.37:g.2959513C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	6	0.06	NM_001271823	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	37	CCDS4479.1	735	0.33653846153846156	61	0.12398373983739837	162	0.44751381215469616	274	0.479020979020979	238	0.31398416886543534	C	7.310	0.614766	0.14129	0.182705	0.321047	ENSG00000124570	ENST00000380500	.	.	.	5.11	-1.14	0.09741	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.46185	P	0.0010879999999999779	.	.	.	.	.	.	T	0.24835	-1.0149	3	.	.	.	.	4.0275	0.09693	0.4755:0.2285:0.0:0.296	rs2236277;rs59298149;rs2236277	.	.	.	H	7	.	.	R	-	2	0	SERPINB6	2904512	0.000000	0.05858	0.317000	0.25265	0.860000	0.49131	-0.626000	0.05527	-0.034000	0.13713	0.591000	0.81541	CGC	C|0.691;A|0.002	.	strong		0.468	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			T	2959513	C	T	2959513	2	4	3	1	0	0	0	0	0	0	0	1	14105	755	27	1		1	SERPINB6	6	2959513	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		2959513	168155554	165	604										
SLC22A23	63027	hgsc.bcm.edu	37	chr6	3284179	3284179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccacgatggaaaacgcgatgGaaaatttgtccttgacgctg	11	9	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:3284179G>A	ENST00000406686.3	-	9	1609	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	SLC22A23_ENST00000436008.2_Missense_Mutation_p.S545F|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S256F|SLC22A23_ENST00000490273.1_Missense_Mutation_p.S256F	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	537					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAACGCGATGGAAAATTTGTC	0.597																																					p.S537F		Atlas-SNP	.											SLC22A23_ENST00000406686,NS,carcinoma,-1,2	SLC22A23	89	2	0			c.C1610T						scavenged	.						103	90	95					6																	3284179		2203	4300	6503	SO:0001583	missense	63027	exon9			GCGATGGAAAATT	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1610C>T	6.37:g.3284179G>A	ENSP00000385028:p.Ser537Phe	Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_015482	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681253	0.88542	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054601	0.85682	D	0.000000	T	0.78336	0.4267	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	T	0.79818	-0.1643	10	0.56958	D	0.05	-37.9193	18.0651	0.89388	0.0:0.0:1.0:0.0	.	545;537	C9J4Z0;A1A5C7	.;S22AN_HUMAN	F	545;537;256;256;365;363	ENSP00000410245:S545F;ENSP00000385028:S537F;ENSP00000369657:S256F;ENSP00000419463:S256F;ENSP00000418134:S365F;ENSP00000418985:S363F	ENSP00000369657:S256F	S	-	2	0	SLC22A23	3229178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.303000	0.96183	2.491000	0.84063	0.655000	0.94253	TCC	.	.	none		0.597	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		A	3284179	G	A	3284179	3	1	3	1	0	0	0	0	1	0	0	0	14452	1174	41	2	458	2	SLC22A23	6	3284179	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	324666	3284179	167830888	166	605										
MRS2	57380	hgsc.bcm.edu	37	chr6	24418786	24418786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagttgcttttggaatgaatTtggaatcttcccttgaagag	11	5	1	3	rs79527965	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:24418786T>C	ENST00000378386.3	+	9	1180	c.1087T>C	c.(1087-1089)Ttg>Ctg	p.L363L	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Silent_p.L313L|MRS2_ENST00000443868.2_Silent_p.L366L|MRS2_ENST00000543597.1_Silent_p.L72L|MRS2_ENST00000378353.1_Silent_p.L363L|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	363						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L363L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGGAATGAATTTGGAATCTTC	0.443													T|||	582	0.116214	0.0159	0.0965	5008	,	,		15455	0.1478		0.1938	False		,,,				2504	0.1534				p.L363L		Atlas-SNP	.											MRS2,NS,carcinoma,0,1	MRS2	31	1	1	Substitution - coding silent(1)	stomach(1)	c.T1087C						scavenged	.	T		170,4236	109.5+/-147.8	5,160,2038	158	156	157		1087	1.8	1	6	dbSNP_131	157	1234,7366	247.6+/-275.6	84,1066,3150	no	coding-synonymous	MRS2	NM_020662.2		89,1226,5188	CC,CT,TT		14.3488,3.8584,10.795		363/444	24418786	1404,11602	2203	4300	6503	SO:0001819	synonymous_variant	57380	exon9			ATGAATTTGGAAT	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1087T>C	6.37:g.24418786T>C		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	123	4	0.0325203	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	37	CCDS4552.1																																																																																			T|0.887;C|0.113	0.113	strong		0.443	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			C	24418786	T	C	24418786	2	2	3	1	0	0	0	0	0	0	0	1	9851	1838	64	2		2	MRS2	6	24418786	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	21134607	24418786	146696281	167	606										
HIST1H2AE	3012	hgsc.bcm.edu	37	chr6	26217398	26217398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgacggccgagatcttagagCtagctggcaacgcggctcgc	14	12	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:26217398C>G	ENST00000303910.2	+	1	234	c.196C>G	c.(196-198)Cta>Gta	p.L66V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	66						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GATCTTAGAGCTAGCTGGCAA	0.607																																					p.L66V		Atlas-SNP	.											.	HIST1H2AE	25	.	0			c.C196G						PASS	.						57	57	57					6																	26217398		2203	4300	6503	SO:0001583	missense	3012	exon1			TTAGAGCTAGCTG	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.196C>G	6.37:g.26217398C>G	ENSP00000303373:p.Leu66Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	124	52	0.419355	NM_021052	P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	10.95	1.494701	0.26774	.	.	ENSG00000168274	ENST00000303910	T	0.70631	-0.5	4.07	4.07	0.47477	.	0.000000	0.27886	U	0.017441	D	0.84311	0.5444	H	0.95884	3.735	0.38725	D	0.953543	.	.	.	.	.	.	D	0.87649	0.2527	8	0.87932	D	0	.	9.5775	0.39468	0.0:0.9023:0.0:0.0977	.	.	.	.	V	66	ENSP00000303373:L66V	ENSP00000303373:L66V	L	+	1	2	HIST1H2AE	26325377	0.997000	0.39634	1.000000	0.80357	0.029000	0.11900	0.500000	0.22562	2.263000	0.75096	0.650000	0.86243	CTA	.	.	none		0.607	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		G	26217398	C	G	26217398	3	3	3	1	0	0	0	0	1	0	0	0	7132	796	28	4	198	4	HIST1H2AE	6	26217398	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1798612	26217398	144897669	168	607										
ZKSCAN3	80317	hgsc.bcm.edu	37	chr6	28327371	28327371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccttggcctaggatggctaGagaattaagtgaaagcacag	13	7	0	2	rs733743	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:28327371G>C	ENST00000377255.3	+	3	305	c.8G>C	c.(7-9)aGa>aCa	p.R3T	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R3T	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	3			R -> T (in dbSNP:rs733743).		autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGGATGGCTAGAGAATTAAGT	0.488													G|||	533	0.10643	0.0598	0.1153	5008	,	,		17978	0.2381		0.0775	False		,,,				2504	0.0573				p.R3T		Atlas-SNP	.											.	ZKSCAN3	50	.	0			c.G8C						PASS	.	G	THR/ARG,,THR/ARG	265,4141		7,251,1945	67	67	67		8,,8	2.9	0.6	6	dbSNP_86	67	605,7995		23,559,3718	yes	missense,intron,missense	ZKSCAN3	NM_001242894.1,NM_001242895.1,NM_024493.3	71,,71	30,810,5663	CC,CG,GG		7.0349,6.0145,6.6892	possibly-damaging,,possibly-damaging	3/539,,3/539	28327371	870,12136	2203	4300	6503	SO:0001583	missense	80317	exon2			TGGCTAGAGAATT	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.8G>C	6.37:g.28327371G>C	ENSP00000366465:p.Arg3Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_024493	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	268	0.1227106227106227	33	0.06707317073170732	36	0.09944751381215469	140	0.24475524475524477	59	0.07783641160949868	.	12.91	2.079483	0.36662	0.060145	0.070349	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04654	3.58;3.58	3.83	2.87	0.33458	.	.	.	.	.	T	0.00906	0.0030	N	0.24115	0.695	0.24376	P	0.99481107	P	0.43094	0.799	B	0.38562	0.276	T	0.26224	-1.0109	8	0.02654	T	1	.	7.0597	0.25119	0.1051:0.1792:0.7157:0.0	rs733743;rs52825469;rs733743	3	Q9BRR0	ZKSC3_HUMAN	T	3	ENSP00000252211:R3T;ENSP00000366465:R3T	ENSP00000252211:R3T	R	+	2	0	ZKSCAN3	28435350	0.167000	0.22975	0.603000	0.28903	0.193000	0.23685	1.544000	0.36158	2.139000	0.66308	0.557000	0.71058	AGA	G|0.892;C|0.108	0.108	strong		0.488	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		C	28327371	G	C	28327371	3	2	3	1	0	0	0	0	1	0	0	0	17685	942	33	4	10	4	ZKSCAN3	6	28327371	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2109973	28327371	142787696	169	608										
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364951	29364951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccatgccctgctgcactccGtaatgacttctcgcttgaac	7	15	1	2	rs2073151	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:29364951G>A	ENST00000383555.2	+	1	536	c.475G>A	c.(475-477)Gta>Ata	p.V159I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	159			V -> I (in dbSNP:rs2073151).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCTGCACTCCGTAATGACTTC	0.483													G|||	1598	0.319089	0.1921	0.3473	5008	,	,		22625	0.3641		0.4523	False		,,,				2504	0.2873				p.V159I		Atlas-SNP	.											.	OR12D2	42	.	0			c.G475A						PASS	.	G	ILE/VAL	670,2352		75,520,916	164	159	160		475	-3.1	0	6	dbSNP_96	160	2412,3006		536,1340,833	yes	missense	OR12D2	NM_013936.3	29	611,1860,1749	AA,AG,GG		44.5183,22.1707,36.5166	benign	159/308	29364951	3082,5358	1511	2709	4220	SO:0001583	missense	26529	exon1			CACTCCGTAATGA		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.475G>A	6.37:g.29364951G>A	ENSP00000373047:p.Val159Ile	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	99	5	0.050505	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	787	0.36034798534798534	101	0.20528455284552846	123	0.3397790055248619	208	0.36363636363636365	355	0.4683377308707124	G	0.020	-1.445958	0.01089	0.221707	0.445183	ENSG00000168787	ENST00000383555	T	0.37058	1.22	3.94	-3.14	0.05250	GPCR, rhodopsin-like superfamily (1);	0.634583	0.15162	N	0.277100	T	0.05364	0.0142	N	0.17082	0.46	0.80722	P	0.0	B	0.17268	0.021	B	0.24006	0.05	T	0.38845	-0.9642	9	0.06494	T	0.89	.	9.2814	0.37731	0.2203:0.1535:0.6262:0.0	rs2073151;rs56462678;rs60511171;rs2073151	159	P58182	O12D2_HUMAN	I	159	ENSP00000373047:V159I	ENSP00000373047:V159I	V	+	1	0	OR12D2	29472930	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-3.504000	0.00449	-0.890000	0.03945	0.205000	0.17691	GTA	G|0.639;A|0.361	0.361	strong		0.483	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			A	29364951	G	A	29364951	3	1	3	1	0	0	0	0	1	0	0	0	10931	1145	40	1	477	1	OR12D2	6	29364951	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1037580	29364951	141750116	170	609										
CCHCR1	54535	hgsc.bcm.edu	37	chr6	31116210	31116210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agcattgaccacaagcctcaGctgctcctcggctgaggctg	11	14	1	2	rs130071	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:31116210G>A	ENST00000376266.5	-	10	1407	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	CCHCR1_ENST00000451521.2_Silent_p.L482L|CCHCR1_ENST00000396268.3_Silent_p.L518L|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000396263.2_Silent_p.L429L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	429					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						ACAAGCCTCAGCTGCTCCTCG	0.622													G|||	979	0.195487	0.1815	0.2608	5008	,	,		17553	0.0575		0.2793	False		,,,				2504	0.2239				p.L518L		Atlas-SNP	.											.	CCHCR1	68	.	0			c.C1552T						PASS	.		,,	649,2367		69,511,928	114	112	113		1444,1552,1285	3.3	1	6	dbSNP_78	113	1572,3844		242,1088,1378	yes	coding-synonymous,coding-synonymous,coding-synonymous	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	,,	311,1599,2306	AA,AG,GG		29.0251,21.5186,26.3401	,,	482/836,518/872,429/783	31116210	2221,6211	1508	2708	4216	SO:0001819	synonymous_variant	54535	exon10			GCCTCAGCTGCTC	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1285C>T	6.37:g.31116210G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	125	6	0.048	NM_001105564	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	CCDS4695.1																																																																																			G|0.746;A|0.254	0.254	strong		0.622	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		A	31116210	G	A	31116210	2	1	3	1	0	0	0	0	0	0	0	1	2877	962	34	2		2	CCHCR1	6	31116210	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1751259	31116210	139998857	171	610										
CCHCR1	54535	hgsc.bcm.edu	37	chr6	31116246	31116246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggctgtctgctgctgccaccGacgcctggcctcctgagcac	12	17	1	1	rs130068	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:31116246G>A	ENST00000376266.5	-	10	1371	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R470W|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R506W|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R417W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	417			R -> Q (in dbSNP:rs130069). {ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:14702039}.|R -> W (in dbSNP:rs130068). {ECO:0000269|PubMed:10545595, ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGCTGCCACCGACGCCTGGCC	0.637													G|||	2053	0.409944	0.4175	0.4308	5008	,	,		17108	0.2966		0.4662	False		,,,				2504	0.4438				p.R506W		Atlas-SNP	.											.	CCHCR1	68	.	0			c.C1516T						PASS	.		TRP/ARG,TRP/ARG,TRP/ARG	1312,1710		280,752,479	96	95	95		1408,1516,1249	1	0	6	dbSNP_78	95	2408,3010		567,1274,868	yes	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	101,101,101	847,2026,1347	AA,AG,GG		44.4444,43.415,44.0758	benign,benign,benign	470/836,506/872,417/783	31116246	3720,4720	1511	2709	4220	SO:0001583	missense	54535	exon10			GCCACCGACGCCT	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1249C>T	6.37:g.31116246G>A	ENSP00000365442:p.Arg417Trp	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	99	7	0.0707071	NM_001105564	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	894	0.40934065934065933	211	0.42886178861788615	157	0.43370165745856354	169	0.29545454545454547	357	0.470976253298153	g	3.862	-0.029722	0.07589	0.43415	0.444444	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.13	1.05	0.20165	.	0.626287	0.15688	N	0.249594	T	0.01189	0.0039	L	0.35288	1.05	0.80722	P	0.0	B;B;B;B	0.13145	0.0;0.001;0.007;0.003	B;B;B;B	0.10450	0.0;0.001;0.005;0.004	T	0.45220	-0.9276	9	0.41790	T	0.15	-24.6082	4.6098	0.12397	0.1777:0.0:0.5007:0.3217	rs130068;rs17190708;rs52790268	417;417;470;506	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	W	506;417;417;417;470	ENSP00000379566:R506W;ENSP00000365442:R417W;ENSP00000379561:R417W;ENSP00000401039:R470W	ENSP00000365442:R417W	R	-	1	2	CCHCR1	31224225	0.001000	0.12720	0.010000	0.14722	0.097000	0.18754	0.281000	0.18810	0.209000	0.20645	-0.280000	0.10049	CGG	G|0.568;A|0.432	0.432	strong		0.637	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		A	31116246	G	A	31116246	3	1	3	1	0	0	0	0	1	0	0	0	2877	1057	37	1	1135	1	CCHCR1	6	31116246	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	36	31116246	139998821	172	611										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239501	31239501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cctcctgctccacccacggcGcccgcggctcccctctcgga	9	23	1	0	rs1050409	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:31239501G>T	ENST00000376228.5	-	2	232	c.218C>A	c.(217-219)gCg>gAg	p.A73E	HLA-C_ENST00000383329.3_Missense_Mutation_p.A73E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	73	Alpha-1.		A -> E (in dbSNP:rs1050409).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CACCCACGGCGCCCGCGGCTC	0.692													g|||	711	0.141973	0.2436	0.1873	5008	,	,		12237	0.0367		0.1382	False		,,,				2504	0.0849				p.A73E		Atlas-SNP	.											HLA-C_ENST00000383329,NS,carcinoma,0,2	HLA-C	92	2	0			c.C218A						scavenged	.	G	GLU/ALA	574,2448		59,456,996	39	41	41		218	1.9	1	6	dbSNP_86	41	610,4806		35,540,2133	no	missense	HLA-C	NM_002117.5	107	94,996,3129	TT,TG,GG		11.2629,18.994,14.0318	probably-damaging	73/367	31239501	1184,7254	1511	2708	4219	SO:0001583	missense	3107	exon2			CACGGCGCCCGCG	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.218C>A	6.37:g.31239501G>T	ENSP00000365402:p.Ala73Glu	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	179	4	0.0223464	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	304	0.1391941391941392	107	0.21747967479674796	70	0.19337016574585636	28	0.04895104895104895	99	0.13060686015831136	-	11.77	1.738587	0.30774	0.18994	0.112629	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00902	5.56;5.56	2.81	1.93	0.25924	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.819950	0.09843	U	0.748660	T	0.02047	0.0064	H	0.99825	4.815	0.40039	P	0.02437199999999995	B;B;B;B	0.21309	0.054;0.022;0.022;0.022	B;B;B;B	0.29267	0.068;0.042;0.068;0.1	T	0.11717	-1.0576	9	0.66056	D	0.02	.	5.723	0.17998	0.1547:0.0:0.8453:0.0	rs1050409;rs2308553;rs3173349;rs16895974	73;73;73;73	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	E	73;73;73;110	ENSP00000365402:A73E;ENSP00000372819:A73E	ENSP00000365402:A73E	A	-	2	0	HLA-C	31347480	0.000000	0.05858	0.998000	0.56505	0.176000	0.22953	0.281000	0.18810	0.751000	0.32900	0.305000	0.20034	GCG	T|0.136;G|0.864	0.136	strong		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239501	G	T	31239501	3	4	3	1	0	0	0	0	1	0	0	0	7197	1087	38	4	910	4	HLA-C	6	31239501	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	123255	31239501	139875566	173	612										
CSNK2B	1460	hgsc.bcm.edu	37	chr6	31637636	31637636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctacggtttcaagatccatcCgatggcctaccagctgcagc	9	14	1	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:31637636C>T	ENST00000375882.2	+	7	737	c.581C>T	c.(580-582)cCg>cTg	p.P194L	CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P194L|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P213L|CSNK2B_ENST00000375866.2_Missense_Mutation_p.P194L	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	194				P -> A (in Ref. 3; AAA52123). {ECO:0000305}.	adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						AAGATCCATCCGATGGCCTAC	0.597																																					p.P194L		Atlas-SNP	.											.	CSNK2B	15	.	0			c.C581T						PASS	.						117	84	96					6																	31637636		1511	2709	4220	SO:0001583	missense	1460	exon7			TCCATCCGATGGC	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.581C>T	6.37:g.31637636C>T	ENSP00000365042:p.Pro194Leu	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	23	11	0.478261	NM_001320	B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467278	0.84533	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375865;ENST00000375866	.	.	.	5.52	5.52	0.82312	.	0.119582	0.56097	D	0.000022	T	0.52468	0.1736	M	0.84326	2.69	0.49051	D	0.999744	D	0.53462	0.96	B	0.40982	0.345	T	0.63166	-0.6698	8	0.41790	T	0.15	-20.7702	16.978	0.86319	0.0:1.0:0.0:0.0	.	194	P67870	CSK2B_HUMAN	L	213;194;194;194	.	ENSP00000365025:P194L	P	+	2	0	CSNK2B	31745615	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.664000	0.74437	2.873000	0.98535	0.563000	0.77884	CCG	.	.	none		0.597	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		T	31637636	C	T	31637636	3	4	3	1	0	0	0	0	1	0	0	0	3959	652	23	1	603	1	CSNK2B	6	31637636	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	398135	31637636	139477431	174	613										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487174	32487174	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cactgtgagagggctcgtcaCgcttgggtgctccacttggc	14	12	1	1	rs112872773	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:32487174C>G	ENST00000374975.3	-	3	687	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGGCTCGTCACGCTTGGGTGC	0.498													C|||	573	0.114417	0.0454	0.2104	5008	,	,		12481	0.121		0.16	False		,,,				2504	0.0859				p.V209L		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,0,1	HLA-DRB5	31	1	0			c.G625C						scavenged	.	C	LEU/VAL	203,3581		25,153,1714	73	83	80		625	-3.6	0	6	dbSNP_132	80	1085,6435		126,833,2801	no	missense	HLA-DRB5	NM_002125.3	32	151,986,4515	GG,GC,CC		14.4282,5.3647,11.3942	benign	209/267	32487174	1288,10016	1892	3760	5652	SO:0001583	missense	3127	exon3			TCGTCACGCTTGG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.625G>C	6.37:g.32487174C>G	ENSP00000364114:p.Val209Leu	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	65	2	0.0307692	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	0.979	-0.697691	0.03279	0.053647	0.144282	ENSG00000198502	ENST00000374975	T	0.01629	4.72	4.36	-3.57	0.04612	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.816604	0.11096	N	0.600213	T	0.00073	0.0002	N	0.00008	-3.11	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.38950	-0.9637	9	0.14656	T	0.56	.	1.4755	0.02425	0.3123:0.2462:0.3234:0.118	.	136;209	Q29973;Q30154	.;DRB5_HUMAN	L	209	ENSP00000364114:V209L	ENSP00000364114:V209L	V	-	1	0	HLA-DRB5	32595152	0.507000	0.26146	0.000000	0.03702	0.022000	0.10575	0.581000	0.23819	-0.961000	0.03609	-0.321000	0.08615	GTG	C|0.859;G|0.120;T|0.021	0.120	strong		0.498	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487174	C	G	32487174	3	3	3	1	0	0	0	0	1	0	0	0	7209	536	19	4	191	4	HLA-DRB5	6	32487174	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	849538	32487174	138627893	175	614										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557461	32557461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccagtggggagctcagcaccAtcagtgtcactgtcagcgct	12	13	4	0	rs35053532	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:32557461A>G	ENST00000360004.5	-	1	164	c.59T>C	c.(58-60)aTg>aCg	p.M20T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTCAGCACCATCAGTGTCAC	0.572										Multiple Myeloma(14;0.17)																											p.M20T		Atlas-SNP	.											HLA-DRB1,NS,carcinoma,0,1	HLA-DRB1	41	1	0			c.T59C						scavenged	.						83	99	93					6																	32557461		1511	2709	4220	SO:0001583	missense	3123	exon1			AGCACCATCAGTG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.59T>C	6.37:g.32557461A>G	ENSP00000353099:p.Met20Thr	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	125	5	0.04	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	4.424	0.078455	0.08533	.	.	ENSG00000196126	ENST00000360004	T	0.00253	8.43	4.4	2.05	0.26809	MHC classes I/II-like antigen recognition protein (1);	1.753860	0.02864	N	0.130685	T	0.00073	0.0002	L	0.51422	1.61	0.09310	N	0.999999	B	0.20887	0.049	B	0.21360	0.034	T	0.43097	-0.9412	10	0.59425	D	0.04	.	5.3115	0.15833	0.7604:0.0:0.2396:0.0	rs35053532	20	P01911	2B1F_HUMAN	T	20	ENSP00000353099:M20T	ENSP00000353099:M20T	M	-	2	0	HLA-DRB1	32665439	0.226000	0.23696	0.380000	0.26093	0.101000	0.19017	1.241000	0.32743	0.270000	0.21984	0.379000	0.24179	ATG	A|0.986;G|0.013	0.013	strong		0.572	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32557461	A	G	32557461	3	3	3	1	0	0	0	0	1	0	0	0	7208	217	8	2	765	2	HLA-DRB1	6	32557461	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	70287	32557461	138557606	176	615										
KCTD20	222658	hgsc.bcm.edu	37	chr6	36442765	36442765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caagcaccagagaaagtgacGcttcttgtagatggcacacg	11	10	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:36442765G>T	ENST00000373731.2	+	3	751	c.360G>T	c.(358-360)acG>acT	p.T120T	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	120	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AGAAAGTGACGCTTCTTGTAG	0.423																																					p.T120T		Atlas-SNP	.											KCTD20,NS,carcinoma,+1,1	KCTD20	37	1	0			c.G360T						scavenged	.						130	125	127					6																	36442765		2203	4300	6503	SO:0001819	synonymous_variant	222658	exon3			AGTGACGCTTCTT	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.360G>T	6.37:g.36442765G>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	144	4	0.0277778	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Silent	SNP	ENST00000373731.2	37	CCDS4821.1																																																																																			.	.	none		0.423	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		T	36442765	G	T	36442765	2	4	3	1	0	0	0	0	0	0	0	1	8108	1074	38	4		4	KCTD20	6	36442765	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3885304	36442765	134672302	177	616										
MEP1A	4224	hgsc.bcm.edu	37	chr6	46766884	46766884	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gacccaaacaccaggtggacGttccccattccttacatctt	6	15	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:46766884G>T	ENST00000230588.4	+	5	237	c.228G>T	c.(226-228)acG>acT	p.T76T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	76	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCAGGTGGACGTTCCCCATTC	0.438																																					p.T76T		Atlas-SNP	.											.	MEP1A	93	.	0			c.G228T						PASS	.						162	152	155					6																	46766884		2203	4300	6503	SO:0001819	synonymous_variant	4224	exon5			GTGGACGTTCCCC		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.228G>T	6.37:g.46766884G>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	135	43	0.318519	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	CCDS4918.1																																																																																			.	.	none		0.438	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		T	46766884	G	T	46766884	2	4	3	1	0	0	0	0	0	0	0	1	9475	1132	40	4		4	MEP1A	6	46766884	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	10324119	46766884	124348183	178	617										
EYS	346007	hgsc.bcm.edu	37	chr6	65301206	65301206	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcactgggattgaaggctttTgtactgaaccggtgcagagc	13	8	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:65301206T>G	ENST00000370621.3	-	26	5080	c.4554A>C	c.(4552-4554)acA>acC	p.T1518T	EYS_ENST00000503581.1_Silent_p.T1518T|EYS_ENST00000370616.2_Silent_p.T1518T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1518					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAGGCTTTTGTACTGAACC	0.423																																					p.T1518T		Atlas-SNP	.											.	EYS	527	.	0			c.A4554C						PASS	.						48	40	43					6																	65301206		692	1590	2282	SO:0001819	synonymous_variant	346007	exon26			GGCTTTTGTACTG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4554A>C	6.37:g.65301206T>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	94	5	0.0531915	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				.	.	none		0.423	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	65301206	T	G	65301206	2	3	3	1	0	0	0	0	0	0	0	1	5332	1799	63	5		5	EYS	6	65301206	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	18534322	65301206	105813861	179	618										
BAI3	577	hgsc.bcm.edu	37	chr6	70042873	70042873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtttccagagatggaatccTagataaaaagctcaaacaca	7	8	1	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:70042873T>C	ENST00000370598.1	+	24	3982	c.3161T>C	c.(3160-3162)cTa>cCa	p.L1054P	BAI3_ENST00000546190.1_Missense_Mutation_p.L18P|BAI3_ENST00000238918.8_Missense_Mutation_p.L260P	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1054					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1054R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GATGGAATCCTAGATAAAAAG	0.373																																					p.L1054P		Atlas-SNP	.											BAI3,NS,carcinoma,+1,2	BAI3	451	2	1	Substitution - Missense(1)	liver(1)	c.T3161C						PASS	.						105	105	105					6																	70042873		2203	4299	6502	SO:0001583	missense	577	exon24			GAATCCTAGATAA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3161T>C	6.37:g.70042873T>C	ENSP00000359630:p.Leu1054Pro	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	134	41	0.30597	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842563	0.71488	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.40476	1.03;1.03;1.03	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.48696	0.1514	L	0.52011	1.625	0.80722	D	1	B;B;D	0.71674	0.098;0.004;0.998	B;B;D	0.66351	0.114;0.01;0.943	T	0.51180	-0.8738	10	0.56958	D	0.05	.	15.5917	0.76534	0.0:0.0:0.0:1.0	.	260;1054;1054	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	P	1054;260;18	ENSP00000359630:L1054P;ENSP00000238918:L260P;ENSP00000441821:L18P	ENSP00000238918:L260P	L	+	2	0	BAI3	70099594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	2.138000	0.66242	0.524000	0.50904	CTA	.	.	none		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			C	70042873	T	C	70042873	3	2	3	1	0	0	0	0	1	0	0	0	1300	1522	53	3	3247	3	BAI3	6	70042873	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	4741667	70042873	101072194	180	619										
CNR1	1268	hgsc.bcm.edu	37	chr6	88853635	88853635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gttaccttggcaatcttgacCgtgctcttgatgcagctttc	9	11	2	2	rs1049353	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:88853635C>T	ENST00000537554.1	-	2	4921	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	CNR1_ENST00000549716.1_Silent_p.T392T|CNR1_ENST00000369501.2_Silent_p.T453T|CNR1_ENST00000369499.2_Silent_p.T453T|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.T420T|CNR1_ENST00000549890.1_Silent_p.T453T|CNR1_ENST00000428600.2_Silent_p.T453T|CNR1_ENST00000535130.1_Silent_p.T453T	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	453					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAATCTTGACCGTGCTCTTGA	0.537													C|||	648	0.129393	0.0287	0.147	5008	,	,		20357	0.0764		0.2584	False		,,,				2504	0.1748				p.T453T		Atlas-SNP	.											CNR1,NS,carcinoma,-1,1	CNR1	91	1	0			c.G1359A	GRCh37	CM074755	CNR1	M	rs1049353	PASS	.	C	,,,,	314,4092	168.0+/-198.9	16,282,1905	226	204	212		1359,1359,1359,1359,1260	-7.6	0.6	6	dbSNP_86	212	2330,6270	390.2+/-343.2	338,1654,2308	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	354,1936,4213	TT,TC,CC		27.093,7.1266,20.3291	,,,,	453/473,453/473,453/473,453/473,420/440	88853635	2644,10362	2203	4300	6503	SO:0001819	synonymous_variant	1268	exon4			CTTGACCGTGCTC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1359G>A	6.37:g.88853635C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	38	5	0.131579	NM_001160258	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																			C|0.840;T|0.160	0.160	strong		0.537	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			T	88853635	C	T	88853635	2	4	3	1	0	0	0	0	0	0	0	1	3631	639	23	1		1	CNR1	6	88853635	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	18810762	88853635	82261432	181	620										
PRDM1	639	hgsc.bcm.edu	37	chr6	106543518	106543518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agtgatgagtaaagaatacaTaccaaagggcacacgttttg	10	6	0	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:106543518T>A	ENST00000369096.4	+	3	554	c.320T>A	c.(319-321)aTa>aAa	p.I107K	PRDM1_ENST00000369091.2_Missense_Mutation_p.I71K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	107	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGAATACATACCAAAGGGC	0.343			"D, N, Mis, F, S"		DLBCL																																p.I107K		Atlas-SNP	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	.	PRDM1	195	.	0			c.T320A						PASS	.						94	89	91					6																	106543518		2203	4300	6503	SO:0001583	missense	639	exon3			AATACATACCAAA		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.320T>A	6.37:g.106543518T>A	ENSP00000358092:p.Ile107Lys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	61	30	0.491803	NM_001198	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	T	31	5.093722	0.94149	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278	D;D	0.89196	-2.48;-2.48	6.06	6.06	0.98353	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	H	0.94582	3.555	0.80722	D	1	D	0.61697	0.99	D	0.69824	0.966	D	0.96716	0.9529	10	0.87932	D	0	-24.395	16.6093	0.84858	0.0:0.0:0.0:1.0	.	107	O75626	PRDM1_HUMAN	K	71;107;71	ENSP00000358087:I71K;ENSP00000358092:I107K	ENSP00000358087:I71K	I	+	2	0	PRDM1	106650211	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	ATA	.	.	none		0.343	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106543518	T	A	106543518	3	1	3	1	0	0	0	0	1	0	0	0	12450	1406	49	5	330	5	PRDM1	6	106543518	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	17689883	106543518	64571549	182	621										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152640110	152640110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccggctgagttcctggctcGtggccttgctctgctcaact	12	14	2	1	rs2306914	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:152640110G>A	ENST00000367255.5	-	85	16878	c.16277C>T	c.(16276-16278)aCg>aTg	p.T5426M	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5355M|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5099M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5426M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5355M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5426			T -> M (in dbSNP:rs2306914).		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T5426M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTGGCTCGTGGCCTTGCT	0.373										HNSCC(10;0.0054)			G|||	232	0.0463259	0.0015	0.0331	5008	,	,		17552	0.1419		0.0288	False		,,,				2504	0.0358				p.T5426M		Atlas-SNP	.											SYNE1_ENST00000423061,NS,carcinoma,+1,5	SYNE1	3227	5	2	Substitution - Missense(2)	stomach(2)	c.C16277T						PASS	.	G	MET/THR,MET/THR	26,4380	32.6+/-62.9	0,26,2177	93	86	88		16064,16277	0.3	1	6	dbSNP_100	88	234,8366	95.9+/-157.7	1,232,4067	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	81,81	1,258,6244	AA,AG,GG		2.7209,0.5901,1.9991	benign,benign	5355/8750,5426/8798	152640110	260,12746	2203	4300	6503	SO:0001583	missense	23345	exon85			TGGCTCGTGGCCT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16277C>T	6.37:g.152640110G>A	ENSP00000356224:p.Thr5426Met	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	90	8	0.0888889	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	116	0.05311355311355311	0	0.0	11	0.03038674033149171	85	0.1486013986013986	20	0.026385224274406333	G	10.63	1.403979	0.25291	0.005901	0.027209	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51325	0.81;0.83;0.71;0.83;0.88	5.43	0.286	0.15710	.	0.264282	0.32736	N	0.005720	T	0.06735	0.0172	N	0.01267	-0.92	0.09310	P	0.99999999696508	B;B;B;B	0.11235	0.001;0.001;0.001;0.004	B;B;B;B	0.06405	0.001;0.0;0.0;0.002	T	0.22417	-1.0217	9	0.44086	T	0.13	.	9.4523	0.38734	0.7303:0.0:0.2697:0.0	rs2306914;rs52815326;rs57164592;rs2306914	5426;5426;5426;5355	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	5426;5355;5426;5355;5099	ENSP00000356224:T5426M;ENSP00000396024:T5355M;ENSP00000265368:T5426M;ENSP00000390975:T5355M;ENSP00000341887:T5099M	ENSP00000265368:T5426M	T	-	2	0	SYNE1	152681803	0.997000	0.39634	0.995000	0.50966	0.991000	0.79684	0.892000	0.28322	-0.170000	0.10816	-0.238000	0.12139	ACG	G|0.962;A|0.038	0.038	strong		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152640110	G	A	152640110	3	1	3	1	0	0	0	0	1	0	0	0	15442	1145	40	1	10437	1	SYNE1	6	152640110	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	46096592	152640110	18474957	183	622										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159653635	159653635	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcaaagccagcctcgccggcCcggaggaccccccattcagg	12	18	1	0	rs381639	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:159653635C>G	ENST00000297267.9	+	11	2291	c.2091C>G	c.(2089-2091)gcC>gcG	p.A697A	FNDC1_ENST00000340366.6_Silent_p.A634A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	697	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCGCCGGCCCGGAGGACCC	0.697													G|||	2471	0.493411	0.295	0.6542	5008	,	,		14853	0.2768		0.7724	False		,,,				2504	0.5838				p.A697A		Atlas-SNP	.											.	FNDC1	250	.	0			c.C2091G						PASS	.	G		1399,2427		256,887,770	12	15	14		2091	-9.5	0	6	dbSNP_80	14	6323,1889		2432,1459,215	no	coding-synonymous	FNDC1	NM_032532.2		2688,2346,985	GG,GC,CC		23.0029,36.5656,35.8531		697/1895	159653635	7722,4316	1913	4106	6019	SO:0001819	synonymous_variant	84624	exon11			GCCGGCCCGGAGG	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2091C>G	6.37:g.159653635C>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	63	4	0.0634921	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	1155	0.5288461538461539	156	0.3170731707317073	251	0.6933701657458563	151	0.263986013986014	597	0.787598944591029	G	5.187	0.220096	0.09863	0.365656	0.769971	ENSG00000164694	ENST00000329629	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.03305	0.0096	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.03981	-1.0987	3	.	.	.	-2.6834	1.5451	0.02563	0.3073:0.2085:0.3602:0.1239	rs381639;rs3814436;rs58100918	.	.	.	A	593	.	.	P	+	1	0	FNDC1	159573625	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.864000	0.01650	-4.965000	0.00025	-0.736000	0.03550	CCG	C|0.423;G|0.577	0.577	strong		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		G	159653635	C	G	159653635	2	3	3	1	0	0	0	0	0	0	0	1	5968	610	22	4		4	FNDC1	6	159653635	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	7013525	159653635	11461432	184	623										
PLG	5340	hgsc.bcm.edu	37	chr6	161132146	161132146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagactgggaatggaaagaaCtacagagggacgatgtccaa	13	6	0	3	rs4757	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:161132146C>T	ENST00000308192.9	+	4	393	c.330C>T	c.(328-330)aaC>aaT	p.N110N	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Silent_p.N110N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	110	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	ATGGAAAGAACTACAGAGGGA	0.453													C|||	1249	0.249401	0.5083	0.2248	5008	,	,		21058	0.001		0.3012	False		,,,				2504	0.1196				p.N110N		Atlas-SNP	.											.	PLG	150	.	0			c.C330T						PASS	.	C	,	2084,2322	573.3+/-383.5	478,1128,597	111	98	103		330,330	1.2	0.9	6	dbSNP_52	103	2713,5883	434.7+/-357.8	407,1899,1992	no	coding-synonymous,coding-synonymous	PLG	NM_000301.3,NM_001168338.1	,	885,3027,2589	TT,TC,CC		31.5612,47.2991,36.8943	,	110/811,110/137	161132146	4797,8205	2203	4298	6501	SO:0001819	synonymous_variant	5340	exon4			AAAGAACTACAGA	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.330C>T	6.37:g.161132146C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	220	10	0.0454545	NM_001168338	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			C|0.671;T|0.329	0.329	strong		0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161132146	C	T	161132146	2	4	3	1	0	0	0	0	0	0	0	1	12086	564	20	2		2	PLG	6	161132146	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1478511	161132146	9982921	185	624										
PLG	5340	hgsc.bcm.edu	37	chr6	161139857	161139857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccccagtatccacggaacaAttggctcccacaggtaagca	8	14	0	0	rs13231	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr6:161139857A>G	ENST00000308192.9	+	9	1146	c.1083A>G	c.(1081-1083)caA>caG	p.Q361Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	361				Q -> E (in Ref. 7; AA sequence and 9; AA sequence). {ECO:0000305}.	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)	CCACGGAACAATTGGCTCCCA	0.498													G|||	683	0.136382	0.1452	0.1744	5008	,	,		17688	0.0		0.2922	False		,,,				2504	0.0777				p.Q361Q		Atlas-SNP	.											.	PLG	150	.	0			c.A1083G						PASS	.	G		777,3629	752.2+/-412.3	59,659,1485	76	72	73		1083	-8.7	0	6	dbSNP_52	73	2587,6013	689.3+/-404.3	365,1857,2078	no	coding-synonymous	PLG	NM_000301.3		424,2516,3563	GG,GA,AA		30.0814,17.635,25.865		361/811	161139857	3364,9642	2203	4300	6503	SO:0001819	synonymous_variant	5340	exon9			GGAACAATTGGCT	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.1083A>G	6.37:g.161139857A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	73	6	0.0821918	NM_000301	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			A|0.787;G|0.213	0.213	strong		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		G	161139857	A	G	161139857	2	3	3	1	0	0	0	0	0	0	0	1	12086	98	4	2		2	PLG	6	161139857	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	7711	161139857	9975210	186	625										
C7orf27	221927	hgsc.bcm.edu	37	chr7	2583328	2583328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agccgcacccacagggcttcCgtccaggggctctggcagcg	14	16	1	0	rs61753095	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:2583328C>T	ENST00000340611.4	-	5	955	c.699G>A	c.(697-699)acG>acA	p.T233T	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	233					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						ACAGGGCTTCCGTCCAGGGGC	0.662													C|||	482	0.096246	0.0106	0.1859	5008	,	,		13569	0.0079		0.1819	False		,,,				2504	0.1513				p.T233T		Atlas-SNP	.											BRAT1,NS,carcinoma,0,1	BRAT1	57	1	0			c.G699A						scavenged	.	C		207,4199	122.1+/-159.5	7,193,2003	35	42	40		699	-11.4	0	7	dbSNP_129	40	1761,6837	307.3+/-308.3	179,1403,2717	no	coding-synonymous	BRAT1	NM_152743.3		186,1596,4720	TT,TC,CC		20.4815,4.6981,15.1338		233/822	2583328	1968,11036	2203	4299	6502	SO:0001819	synonymous_variant	221927	exon5			GGCTTCCGTCCAG	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.699G>A	7.37:g.2583328C>T		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	177	5	0.0282486	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																			C|0.871;T|0.129	0.129	strong		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		T	2583328	C	T	2583328	2	4	3	1	0	0	0	0	0	0	0	1	2382	639	23	1		1	C7orf27	7	2583328	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		2583328	156555335	187	626										
SNX13	23161	hgsc.bcm.edu	37	chr7	17879484	17879484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcagctgctcttaaaagaccTttggtttggttggtttgatg	12	6	1	2	rs35507251	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:17879484T>C	ENST00000409389.1	-	13	1477	c.1305A>G	c.(1303-1305)aaA>aaG	p.K435K	SNX13_ENST00000428135.3_Silent_p.K435K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	435	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTAAAAGACCTTTGGTTTGGT	0.383													T|||	103	0.0205671	0.0038	0.0216	5008	,	,		17621	0.0		0.0368	False		,,,				2504	0.047				p.K435K		Atlas-SNP	.											.	SNX13	113	.	0			c.A1305G						PASS	.	T		12,3694		0,12,1841	149	136	140		1305	5.2	1	7	dbSNP_126	140	202,7994		5,192,3901	no	coding-synonymous	SNX13	NM_015132.4		5,204,5742	CC,CT,TT		2.4646,0.3238,1.798		435/958	17879484	214,11688	1853	4098	5951	SO:0001819	synonymous_variant	23161	exon13			AAGACCTTTGGTT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1305A>G	7.37:g.17879484T>C		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	119	5	0.0420168	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37																																																																																				T|0.975;C|0.025	0.025	strong		0.383	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		C	17879484	T	C	17879484	2	2	3	1	0	0	0	0	0	0	0	1	14884	1606	56	3		3	SNX13	7	17879484	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	15296156	17879484	141259179	188	627										
ADCYAP1R1	117	hgsc.bcm.edu	37	chr7	31132339	31132339	+	Missense_Mutation	SNP	A	A	G													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acatgggaggcaatgagtccAgcatctacttgtaagtacca							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:31132339A>G	ENST00000304166.4	+	13	1325	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S346G|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S325G|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S346G	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	346					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAATGAGTCCAGCATCTACTT	0.488																																					p.S346G	Ovarian(44;225 1186 2158 11092)	Atlas-SNP	.											.	ADCYAP1R1	78	.	0			c.A1036G						PASS	.						96	90	92					7																	31132339		2203	4300	6503	SO:0001583	missense	117	exon13			GAGTCCAGCATCT		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1036A>G	7.37:g.31132339A>G	ENSP00000306620:p.Ser346Gly	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	41	27	0.658537	NM_001118	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.07|18.07	3.541658|3.541658	0.65085|0.65085	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000436116|ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	.|T;T;T;T	.|0.46063	.|1.15;1.17;0.88;1.09	5.72|5.72	5.72|5.72	0.89469|0.89469	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	.|P;B;D;B;B	.|0.71674	.|0.952;0.118;0.998;0.02;0.056	.|P;B;D;B;B	.|0.71184	.|0.792;0.082;0.972;0.033;0.056	T|T	0.54944|0.54944	-0.8217|-0.8217	5|10	.|0.41790	.|T	.|0.15	.|.	14.2607|14.2607	0.66083|0.66083	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|346;346;346;325;346	.|B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.|.;.;.;.;PACR_HUMAN	R|G	62|346;117;325;346;346	.|ENSP00000306620:S346G;ENSP00000387335:S325G;ENSP00000379514:S346G;ENSP00000386395:S346G	.|ENSP00000306620:S346G	Q|S	+|+	2|1	0|0	ADCYAP1R1|ADCYAP1R1	31098864|31098864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.748000|8.748000	0.91615|0.91615	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	CAG|AGC	.	.	none		0.488	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		G	31132339	A	G	31132339	3	3	3	1	0	0	0	0	1	0	0	0	303	188	7	3	1082	3	ADCYAP1R1	7	31132339	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	13252855	31132339	128006324	189	628	16	2								
ADCYAP1R1	117	hgsc.bcm.edu	37	chr7	31132340	31132340	+	Missense_Mutation	SNP	G	G	C													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catgggaggcaatgagtccaGcatctacttgtaagtaccat							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:31132340G>C	ENST00000304166.4	+	13	1326	c.1037G>C	c.(1036-1038)aGc>aCc	p.S346T	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S346T|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S325T|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S346T	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	346					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AATGAGTCCAGCATCTACTTG	0.488																																					p.S346T	Ovarian(44;225 1186 2158 11092)	Atlas-SNP	.											.	ADCYAP1R1	78	.	0			c.G1037C						PASS	.						95	88	91					7																	31132340		2203	4300	6503	SO:0001583	missense	117	exon13			AGTCCAGCATCTA		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1037G>C	7.37:g.31132340G>C	ENSP00000306620:p.Ser346Thr	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	40	27	0.675	NM_001118	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.524258|4.524258	0.85600|0.85600	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000436116|ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	.|T;T;T;T	.|0.42900	.|1.13;1.23;0.96;1.15	5.72|5.72	5.72|5.72	0.89469|0.89469	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48572|0.48572	0.1507|0.1507	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	.|P;P;P;B;B	.|0.46395	.|0.78;0.624;0.877;0.205;0.425	.|P;B;P;B;B	.|0.52646	.|0.604;0.42;0.705;0.215;0.324	T|T	0.29971|0.29971	-0.9994|-0.9994	5|10	.|0.44086	.|T	.|0.13	.|.	17.7518|17.7518	0.88436|0.88436	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|346;346;346;325;346	.|B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.|.;.;.;.;PACR_HUMAN	H|T	62|346;117;325;346;346	.|ENSP00000306620:S346T;ENSP00000387335:S325T;ENSP00000379514:S346T;ENSP00000386395:S346T	.|ENSP00000306620:S346T	Q|S	+|+	3|2	2|0	ADCYAP1R1|ADCYAP1R1	31098865|31098865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.248000|9.248000	0.95456|0.95456	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CAG|AGC	.	.	none		0.488	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		C	31132340	G	C	31132340	3	2	3	1	0	0	0	0	1	0	0	0	303	971	34	4	1083	4	ADCYAP1R1	7	31132340	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1	31132340	128006323	190	629	16	2								
PDE1C	5137	hgsc.bcm.edu	37	chr7	31855569	31855569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgttctcctgatgacttctcGgctttggagtttttcccacg	9	11	2	2	rs2302450	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:31855569G>A	ENST00000396191.1	-	15	2237	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	PDE1C_ENST00000396182.2_Silent_p.A594A|PDE1C_ENST00000396193.1_Silent_p.A654A|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396184.3_Silent_p.A594A|PDE1C_ENST00000321453.7_Silent_p.A594A	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	594					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A594A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ATGACTTCTCGGCTTTGGAGT	0.448													A|||	1175	0.234625	0.2451	0.2046	5008	,	,		22184	0.1667		0.2704	False		,,,				2504	0.2751				p.A654A		Atlas-SNP	.											PDE1C_ENST00000396191,NS,carcinoma,0,2	PDE1C	465	2	2	Substitution - coding silent(2)	stomach(2)	c.C1962T						scavenged	.	A	,,,,	1024,3382	727.8+/-409.9	133,758,1312	230	222	225		1782,1782,1962,1782,1782	-8.8	0.4	7	dbSNP_100	225	2092,6508	717.1+/-406.1	254,1584,2462	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	,,,,	387,2342,3774	AA,AG,GG		24.3256,23.241,23.9582	,,,,	594/635,594/710,654/770,594/710,594/635	31855569	3116,9890	2203	4300	6503	SO:0001819	synonymous_variant	5137	exon16			CTTCTCGGCTTTG	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1782C>T	7.37:g.31855569G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	162	6	0.037037	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																			G|0.761;A|0.239	0.239	strong		0.448	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31855569	G	A	31855569	2	1	3	1	0	0	0	0	0	0	0	1	11635	1103	39	1		1	PDE1C	7	31855569	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	723229	31855569	127283094	191	630										
ANLN	54443	hgsc.bcm.edu	37	chr7	36438709	36438709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaaatcttgtacaaaaccatCgccatcaaaaaaacgctgtt	5	10	2	0	rs3735400	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:36438709C>G	ENST00000265748.2	+	3	415	c.194C>G	c.(193-195)tCg>tGg	p.S65W	ANLN_ENST00000396068.2_Missense_Mutation_p.S65W	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	65	Interaction with CD2AP.|Nuclear localization.		S -> W (in dbSNP:rs3735400).		hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S65W(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACAAAACCATCGCCATCAAAA	0.333													C|||	636	0.126997	0.1036	0.1686	5008	,	,		19134	0.1806		0.0984	False		,,,				2504	0.1033				p.S65W		Atlas-SNP	.											ANLN,NS,carcinoma,0,1	ANLN	101	1	1	Substitution - Missense(1)	prostate(1)	c.C194G						scavenged	.	C	TRP/SER	536,3870	240.3+/-251.1	31,474,1698	57	59	58		194	4.6	1	7	dbSNP_107	58	974,7626	211.5+/-252.1	59,856,3385	yes	missense	ANLN	NM_018685.2	177	90,1330,5083	GG,GC,CC		11.3256,12.1652,11.61	probably-damaging	65/1125	36438709	1510,11496	2203	4300	6503	SO:0001583	missense	54443	exon3			AACCATCGCCATC	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.194C>G	7.37:g.36438709C>G	ENSP00000265748:p.Ser65Trp	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	324	6	0.0185185	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	265	0.12133699633699634	44	0.08943089430894309	46	0.1270718232044199	91	0.1590909090909091	84	0.11081794195250659	C	17.81	3.481073	0.63849	0.121652	0.113256	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.50277	0.75;0.75;3.82	5.46	4.59	0.56863	.	0.105878	0.64402	D	0.000003	T	0.00524	0.0017	M	0.74258	2.255	0.09310	P	0.9999999986779	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.17899	-1.0354	9	0.87932	D	0	-8.9128	14.3125	0.66424	0.0:0.9288:0.0:0.0712	rs3735400;rs10386162;rs52819922;rs3735400	65;65;65	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	W	65;65;43	ENSP00000265748:S65W;ENSP00000379380:S65W;ENSP00000404979:S43W	ENSP00000265748:S65W	S	+	2	0	ANLN	36405234	0.999000	0.42202	0.999000	0.59377	0.660000	0.38997	4.346000	0.59367	1.453000	0.47775	0.655000	0.94253	TCG	C|0.882;G|0.118	0.118	strong		0.333	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		G	36438709	C	G	36438709	3	3	3	1	0	0	0	0	1	0	0	0	694	893	31	4	204	4	ANLN	7	36438709	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	4583140	36438709	122699954	192	631										
PION	54103	hgsc.bcm.edu	37	chr7	76990178	76990178	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgccctttgtcatgtgtgaCccaacattctcaagagaagt	8	10	2	2	rs4727366	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:76990178C>G	ENST00000257626.7	-	14	1068	c.990G>C	c.(988-990)ggG>ggC	p.G330G		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	330					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TCATGTGTGACCCAACATTCT	0.458													G|||	1512	0.301917	0.5461	0.219	5008	,	,		22232	0.0873		0.2326	False		,,,				2504	0.3231				p.G330G		Atlas-SNP	.											PION,caecum,carcinoma,0,1	PION	74	1	0			c.G990C						scavenged	.	G		2185,2221	590.3+/-387.3	546,1093,564	227	187	200		990	2.1	0.1	7	dbSNP_111	200	2174,6426	712.8+/-405.9	261,1652,2387	no	coding-synonymous	PION	NM_017439.3		807,2745,2951	GG,GC,CC		25.2791,49.5915,33.5153		330/855	76990178	4359,8647	2203	4300	6503	SO:0001819	synonymous_variant	54103	exon14			GTGTGACCCAACA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.990G>C	7.37:g.76990178C>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	165	3	0.0181818	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																			C|0.688;G|0.312	0.312	strong		0.458	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		G	76990178	C	G	76990178	2	3	3	1	0	0	0	0	0	0	0	1	11934	494	18	4		4	PION	7	76990178	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	40551469	76990178	82148485	193	632										
PION	54103	hgsc.bcm.edu	37	chr7	76991935	76991935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acactgaatatgtgatttgtCcccaagaggcacacttcggg	10	10	0	3	rs1527263	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:76991935C>T	ENST00000257626.7	-	13	992	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	305			G -> E (in dbSNP:rs1527263).		positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TGTGATTTGTCCCCAAGAGGC	0.303													T|||	1512	0.301917	0.5454	0.219	5008	,	,		21657	0.0883		0.2326	False		,,,				2504	0.3231				p.G305E		Atlas-SNP	.											PION,colon,carcinoma,+1,4	PION	74	4	0			c.G914A						scavenged	.	T	GLU/GLY	2189,2217	589.8+/-387.2	548,1093,562	98	100	100		914	4.5	0.9	7	dbSNP_88	100	2170,6430	712.4+/-405.9	260,1650,2390	yes	missense	PION	NM_017439.3	98	808,2743,2952	TT,TC,CC		25.2326,49.6823,33.5153	benign	305/855	76991935	4359,8647	2203	4300	6503	SO:0001583	missense	54103	exon13			ATTTGTCCCCAAG		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.914G>A	7.37:g.76991935C>T	ENSP00000257626:p.Gly305Glu	Somatic	265	1	0.00377358		WXS	Illumina HiSeq	Phase_I	410	13	0.0317073	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	615	0.2815934065934066	288	0.5853658536585366	92	0.2541436464088398	52	0.09090909090909091	183	0.24142480211081793	T	0.009	-1.815517	0.00600	0.496823	0.252326	ENSG00000186088	ENST00000257626	T	0.15372	2.43	5.72	4.5	0.54988	.	0.533626	0.16507	N	0.211404	T	0.00012	0.0000	N	0.00926	-1.1	0.53688	P	2.5000000000052758E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43540	-0.9385	9	0.02654	T	1	.	5.7871	0.18338	0.1477:0.0807:0.0:0.7717	rs1527263;rs57606158;rs1527263	305;305	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	E	305	ENSP00000257626:G305E	ENSP00000257626:G305E	G	-	2	0	PION	76829871	0.005000	0.15991	0.947000	0.38551	0.060000	0.15804	1.184000	0.32053	0.999000	0.39023	-0.524000	0.04348	GGA	C|0.675;N|0.000	.	strong		0.303	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		T	76991935	C	T	76991935	3	4	3	1	0	0	0	0	1	0	0	0	11934	855	30	2	1726	2	PION	7	76991935	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1757	76991935	82146728	194	633										
SEMA3C	10512	hgsc.bcm.edu	37	chr7	80433481	80433481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctcctgttattgtcagtcaGtttttctttgaagaagaagt	9	6	3	3	rs143347984		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:80433481G>T	ENST00000265361.3	-	8	1303	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	SEMA3C_ENST00000544525.1_Missense_Mutation_p.L266M|SEMA3C_ENST00000419255.2_Missense_Mutation_p.L248M|SEMA3C_ENST00000536800.1_Missense_Mutation_p.L100M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGTCAGTCAGTTTTTCTTTG	0.368																																					p.L248M		Atlas-SNP	.											.	SEMA3C	106	.	0			c.C742A						PASS	.	G	MET/LEU	0,4406		0,0,2203	160	150	153		742	3.7	1	7	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA3C	NM_006379.3	15	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	248/752	80433481	1,13005	2203	4300	6503	SO:0001583	missense	10512	exon8			CAGTCAGTTTTTC	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.742C>A	7.37:g.80433481G>T	ENSP00000265361:p.Leu248Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	147	48	0.326531	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437638	0.43224	0.0	1.16E-4	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.62	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.064498	0.64402	D	0.000005	T	0.11452	0.0279	L	0.51422	1.61	0.52099	D	0.999948	B;B;B	0.16396	0.017;0.008;0.01	B;B;B	0.25614	0.016;0.037;0.062	T	0.05533	-1.0879	10	0.72032	D	0.01	.	7.7762	0.29039	0.1417:0.0:0.7252:0.1332	.	100;266;248	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	M	248;248;266;100	ENSP00000265361:L248M;ENSP00000411193:L248M;ENSP00000445649:L266M;ENSP00000438258:L100M	ENSP00000265361:L248M	L	-	1	2	SEMA3C	80271417	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	3.527000	0.53517	1.334000	0.45468	0.585000	0.79938	CTG	G|1.000;T|0.000	0.000	weak		0.368	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80433481	G	T	80433481	3	4	3	1	0	0	0	0	1	0	0	0	14026	1020	36	4	1557	4	SEMA3C	7	80433481	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3441546	80433481	78705182	195	634										
CACNA2D1	781	hgsc.bcm.edu	37	chr7	81601100	81601100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aacaaatacttacatattttTctgcttactccagtaatttt	2	8	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:81601100T>C	ENST00000356253.5	-	26	2425	c.2170A>G	c.(2170-2172)Aaa>Gaa	p.K724E	CACNA2D1_ENST00000535308.1_5'Flank|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K712E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	724					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TACATATTTTTCTGCTTACTC	0.303																																					p.K712E		Atlas-SNP	.											.	CACNA2D1	191	.	0			c.A2134G						PASS	.						58	61	60					7																	81601100		2202	4293	6495	SO:0001583	missense	781	exon26			TATTTTTCTGCTT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2170A>G	7.37:g.81601100T>C	ENSP00000348589:p.Lys724Glu	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	330	70	0.212121	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	T	2.518	-0.311456	0.05422	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.71698	-0.59;-0.59	4.69	4.69	0.59074	.	0.258919	0.39407	N	0.001374	T	0.45498	0.1345	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.40924	-0.9537	10	0.02654	T	1	-19.5396	4.1471	0.10220	0.1938:0.0948:0.0:0.7114	.	712	P54289-2	.	E	712;731;724	ENSP00000349320:K712E;ENSP00000348589:K724E	ENSP00000284088:K731E	K	-	1	0	CACNA2D1	81439036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.983000	0.29552	1.953000	0.56701	0.477000	0.44152	AAA	.	.	none		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				C	81601100	T	C	81601100	3	2	3	1	0	0	0	0	1	0	0	0	2548	1792	62	2	1197	2	CACNA2D1	7	81601100	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1167619	81601100	77537563	196	635										
SEMA3D	223117	hgsc.bcm.edu	37	chr7	84628989	84628989	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agccaatagatccttgacctTcccctcctcatgctctgccc	5	18	2	2	rs7800072	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:84628989T>G	ENST00000284136.6	-	17	2144	c.2101A>C	c.(2101-2103)Aag>Cag	p.K701Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	701			K -> Q (in dbSNP:rs7800072). {ECO:0000269|PubMed:12975309}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTTGACCTTCCCCTCCTCA	0.473													G|||	1430	0.285543	0.351	0.2421	5008	,	,		17893	0.2718		0.3201	False		,,,				2504	0.2065				p.K701Q	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											SEMA3D,rectum,carcinoma,0,1	SEMA3D	177	1	0			c.A2101C						scavenged	.	G	GLN/LYS	1642,2764	659.1+/-400.5	314,1014,875	144	119	128		2101	3.8	1	7	dbSNP_116	128	2814,5786	676.5+/-403.3	459,1896,1945	yes	missense	SEMA3D	NM_152754.2	53	773,2910,2820	GG,GT,TT		32.7209,37.2674,34.2611	benign	701/778	84628989	4456,8550	2203	4300	6503	SO:0001583	missense	223117	exon17			TGACCTTCCCCTC	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2101A>C	7.37:g.84628989T>G	ENSP00000284136:p.Lys701Gln	Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	131	5	0.0381679	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	667	0.30540293040293043	191	0.3882113821138211	94	0.2596685082872928	139	0.243006993006993	243	0.32058047493403696	G	5.817	0.334982	0.11013	0.372674	0.327209	ENSG00000153993	ENST00000284136	T	0.30981	1.51	5.73	3.82	0.43975	.	0.959042	0.08767	N	0.896847	T	0.00012	0.0000	N	0.19112	0.55	0.09310	P	0.999999611851	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.13108	T	0.6	.	15.0253	0.71667	0.0:0.0:0.6279:0.3721	rs7800072;rs10365892;rs7800072	701	O95025	SEM3D_HUMAN	Q	701	ENSP00000284136:K701Q	ENSP00000284136:K701Q	K	-	1	0	SEMA3D	84466925	0.865000	0.29922	0.998000	0.56505	0.986000	0.74619	1.502000	0.35704	0.759000	0.33084	-0.121000	0.15023	AAG	T|0.671;G|0.329	0.329	strong		0.473	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		G	84628989	T	G	84628989	3	3	3	1	0	0	0	0	1	0	0	0	14027	1792	62	5	236	5	SEMA3D	7	84628989	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3027889	84628989	74509674	197	636										
STEAP2	261729	hgsc.bcm.edu	37	chr7	89856644	89856644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctgcttatcaactttattaCggcaccaagtataggagatt	8	8	1	1	rs2016903	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:89856644C>T	ENST00000287908.3	+	3	1245	c.852C>T	c.(850-852)taC>taT	p.Y284Y	STEAP2_ENST00000394629.2_Silent_p.Y284Y|STEAP2_ENST00000394632.1_Silent_p.Y284Y|STEAP2_ENST00000394626.1_Silent_p.Y284Y|STEAP2_ENST00000394622.2_Silent_p.Y284Y|STEAP2_ENST00000394621.2_Silent_p.Y284Y|STEAP2_ENST00000402625.2_Silent_p.Y284Y	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	284	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AACTTTATTACGGCACCAAGT	0.408													C|||	392	0.0782748	0.0136	0.0821	5008	,	,		18256	0.0149		0.2097	False		,,,				2504	0.093				p.Y284Y		Atlas-SNP	.											STEAP2_ENST00000394626,NS,adenoma,0,2	STEAP2	78	2	0			c.C852T						scavenged	.	C	,,	251,4155	144.6+/-179.5	12,227,1964	87	85	86		852,852,852	-5.2	1	7	dbSNP_92	86	1939,6661	340.8+/-323.8	220,1499,2581	no	coding-synonymous,coding-synonymous,coding-synonymous	STEAP2	NM_001040665.1,NM_001040666.1,NM_152999.3	,,	232,1726,4545	TT,TC,CC		22.5465,5.6968,16.8384	,,	284/491,284/455,284/491	89856644	2190,10816	2203	4300	6503	SO:0001819	synonymous_variant	261729	exon4			TTATTACGGCACC	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.852C>T	7.37:g.89856644C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	197	5	0.0253807	NM_001244946	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	CCDS5615.1																																																																																			C|0.869;T|0.131	0.131	strong		0.408	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		T	89856644	C	T	89856644	2	4	3	1	0	0	0	0	0	0	0	1	15277	547	19	1		1	STEAP2	7	89856644	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	5227655	89856644	69282019	198	637										
C7orf63	79846	hgsc.bcm.edu	37	chr7	89938680	89938680	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tattaaaggccttaacacaaCggtaagattctttctccata	5	9	2	1	rs1134956	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:89938680C>T	ENST00000389297.4	+	22	2905	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	C7orf63_ENST00000497910.1_Splice_Site_p.T867M|C7orf63_ENST00000316089.8_Splice_Site_p.T839M	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		885			T -> M (in dbSNP:rs17865475). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTAACACAACGGTAAGATTC	0.323													C|||	1906	0.380591	0.2859	0.3991	5008	,	,		13101	0.2024		0.5577	False		,,,				2504	0.4969				p.T885M		Atlas-SNP	.											C7orf63_ENST00000389297,NS,carcinoma,+1,2	C7orf63	158	2	0			c.C2654T						scavenged	.	C	MET/THR,MET/THR	1255,2367		217,821,773	101	95	97		2654,2600	5.5	1	7	dbSNP_86	97	4661,3489		1333,1995,747	yes	missense-near-splice,missense-near-splice	C7orf63	NM_001039706.2,NM_001160138.1	81,81	1550,2816,1520	TT,TC,CC		42.8098,34.6494,49.7452	probably-damaging,probably-damaging	885/942,867/924	89938680	5916,5856	1811	4075	5886	SO:0001630	splice_region_variant	79846	exon22			ACACAACGGTAAG																												ENST00000389297.4:c.2655+1C>T	7.37:g.89938680C>T		Somatic	316	1	0.00316456		WXS	Illumina HiSeq	Phase_I	457	9	0.0196937	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	827	0.37866300366300365	144	0.2926829268292683	149	0.4116022099447514	104	0.18181818181818182	430	0.5672823218997362	C	21.5	4.163953	0.78226	0.346494	0.571902	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.55234	1.49;0.91;1.55;0.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.78049	2.395	0.19945	P	0.9999490445	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50180	-0.8858	9	0.72032	D	0.01	-10.4472	19.4207	0.94720	0.0:1.0:0.0:0.0	rs1134956;rs3178794;rs3197363;rs3208949;rs11544789;rs11563317;rs17689090;rs59337484;rs3178794	867;885	A5D8W1-5;A5D8W1	.;CG063_HUMAN	M	885;839;867;422	ENSP00000373948:T885M;ENSP00000321753:T839M;ENSP00000419549:T867M;ENSP00000391571:T422M	ENSP00000321753:T839M	T	+	2	0	C7orf63	89776616	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.335000	0.59298	2.601000	0.87937	0.585000	0.79938	ACG	C|0.596;N|0.000;T|0.404	0.404	strong		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		Missense_Mutation	T	89938680	C	T	89938680	5	4	3	1	0	0	0	0	0	0	1	0	2409	550	19	1	2740	1	C7orf63	7	89938680	Splice_Site	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	82036	89938680	69199983	199	638										
MUC17	140453	hgsc.bcm.edu	37	chr7	100679366	100679366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagccagttcatctcctacaActgctgacggtaccagcatg	8	13	2	1	rs74209688	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:100679366A>G	ENST00000306151.4	+	3	4733	c.4669A>G	c.(4669-4671)Act>Gct	p.T1557A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1557	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)	p.T1557A(1)		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)					ATCTCCTACAACTGCTGACGG	0.493																																					p.T1557A		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	1	Substitution - Missense(1)	stomach(1)	c.A4669G						scavenged	.	A	ALA/THR	348,4058	180.1+/-208.5	15,318,1870	261	243	249		4669	-1.3	0	7	dbSNP_130	249	2280,6320	385.7+/-341.6	299,1682,2319	no	missense	MUC17	NM_001040105.1	58	314,2000,4189	GG,GA,AA		26.5116,7.8983,20.2061	possibly-damaging	1557/4494	100679366	2628,10378	2203	4300	6503	SO:0001583	missense	140453	exon3			CCTACAACTGCTG	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.4669A>G	7.37:g.100679366A>G	ENSP00000302716:p.Thr1557Ala	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	154	4	0.025974	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	538	0.24633699633699635	23	0.046747967479674794	76	0.20994475138121546	230	0.4020979020979021	209	0.2757255936675462	A	2.243	-0.373277	0.05034	0.078983	0.265116	ENSG00000169876	ENST00000306151	T	0.01981	4.52	0.922	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.40476	0.718	B	0.32805	0.153	T	0.22765	-1.0207	8	0.07030	T	0.85	.	3.075	0.06243	0.5662:0.0:0.0:0.4338	.	1557	Q685J3	MUC17_HUMAN	A	1557	ENSP00000302716:T1557A	ENSP00000302716:T1557A	T	+	1	0	MUC17	100466086	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.057000	0.14279	-0.205000	0.10219	0.102000	0.15555	ACT	A|0.784;G|0.216	0.216	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679366	A	G	100679366	3	3	3	1	0	0	0	0	1	0	0	0	9974	43	2	2	4679	2	MUC17	7	100679366	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	10740686	100679366	58459297	200	639										
RABL5	64792	hgsc.bcm.edu	37	chr7	100958542	100958542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaggtttgagtgcaccagcTtcagcttgttcaagggtggc	13	10	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:100958542T>G	ENST00000315322.4	-	5	524	c.431A>C	c.(430-432)aAg>aCg	p.K144T	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000498704.2_Missense_Mutation_p.K67T|RABL5_ENST00000437644.2_Missense_Mutation_p.K114T|RABL5_ENST00000517481.1_Missense_Mutation_p.K67T	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		144					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GTGCACCAGCTTCAGCTTGTT	0.423											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K144T		Atlas-SNP	.											.	RABL5	15	.	0			c.A431C						PASS	.						86	83	84					7																	100958542		2203	4300	6503	SO:0001583	missense	64792	exon5			ACCAGCTTCAGCT																												ENST00000315322.4:c.431A>C	7.37:g.100958542T>G	ENSP00000320359:p.Lys144Thr	Somatic	90	0	0	1355	WXS	Illumina HiSeq	Phase_I	99	36	0.363636	NM_022777	Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	ENST00000315322.4	37	CCDS5719.1	.	.	.	.	.	.	.	.	.	.	T	8.424	0.846993	0.17034	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T	0.46451	0.87	5.41	3.03	0.35002	.	0.473361	0.23614	N	0.046303	T	0.24275	0.0588	L	0.27053	0.805	0.28871	N	0.894977	B;B	0.14438	0.01;0.004	B;B	0.12156	0.007;0.003	T	0.16070	-1.0415	10	0.21540	T	0.41	-21.9243	4.6961	0.12804	0.0:0.1701:0.1616:0.6684	.	114;144	Q9H7X7-2;Q9H7X7	.;RABL5_HUMAN	T	67;144;67;114	ENSP00000320359:K144T	ENSP00000320359:K144T	K	-	2	0	RABL5	100745262	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.568000	0.23623	0.360000	0.24265	0.533000	0.62120	AAG	.	.	none		0.423	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1			G	100958542	T	G	100958542	3	3	3	1	0	0	0	0	1	0	0	0	12973	1609	56	5	130	5	RABL5	7	100958542	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	279176	100958542	58180121	201	640										
CALU	813	hgsc.bcm.edu	37	chr7	128394606	128394606	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gattgtagataaaatagacgCggataaagatgggtttgtga	13	2	0	4	rs2307040	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:128394606C>T	ENST00000249364.4	+	3	517				CALU_ENST00000535011.2_Intron|CALU_ENST00000542996.2_Missense_Mutation_p.A90V|CALU_ENST00000449187.2_Missense_Mutation_p.A82V|CALU_ENST00000538546.1_Intron|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.A90V(1)		kidney(2)|large_intestine(3)|lung(5)	10						AAAATAGACGCGGATAAAGAT	0.443													C|||	888	0.177316	0.1127	0.2233	5008	,	,		19129	0.0585		0.3728	False		,,,				2504	0.1534				p.A90V		Atlas-SNP	.											CALU_ENST00000542996,NS,carcinoma,0,1	CALU	42	1	1	Substitution - Missense(1)	stomach(1)	c.C269T						scavenged	.	C	VAL/ALA,,VAL/ALA,,,	181,1203		11,159,522	83	74	76		245,,269,,,	0.2	1	7	dbSNP_100	76	1182,2000		224,734,633	yes	missense,intron,missense,intron,intron,intron	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199673.1,NM_001199674.1,NM_001219.4	64,,64,,,	235,893,1155	TT,TC,CC		37.1464,13.078,29.8511	,,,,,	82/316,,90/324,,,	128394606	1363,3203	692	1591	2283	SO:0001627	intron_variant	813	exon4			TAGACGCGGATAA	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.415+97C>T	7.37:g.128394606C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	336	4	0.0119048	NM_001199672	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	459	0.21016483516483517	62	0.12601626016260162	95	0.26243093922651933	28	0.04895104895104895	274	0.36147757255936674	C	10.84	1.465452	0.26335	0.13078	0.371464	ENSG00000128595	ENST00000542996;ENST00000537667;ENST00000537014;ENST00000449187	T;T	0.70399	-0.48;-0.48	5.96	0.244	0.15507	.	.	.	.	.	T	0.00012	0.0000	N	0.11201	0.11	0.80722	P	0.0	B	0.13145	0.007	B	0.12837	0.008	T	0.32693	-0.9897	8	0.22109	T	0.4	.	5.664	0.17684	0.0:0.4412:0.1377:0.4211	rs2307040;rs11545530;rs52803804;rs2307040	90	D6QS48	.	V	90;82;82;82	ENSP00000438248:A90V;ENSP00000408838:A82V	ENSP00000408838:A82V	A	+	2	0	CALU	128181842	0.000000	0.05858	0.959000	0.39883	0.990000	0.78478	-0.365000	0.07573	0.092000	0.17331	-0.136000	0.14681	GCG	C|0.785;T|0.215	0.215	strong		0.443	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		T	128394606	C	T	128394606	1	4	3	0	1	0	0	0	0	0	0	0	2594	768	27	1		1	CALU	7	128394606	Intron	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	27436064	128394606	30744057	202	641										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	132070054	132070054	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcagaggctggtaccaggcaTctggaaaagatgaaacctta	12	8	1	3	rs741664	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:132070054T>C	ENST00000359827.3	-	4	2334				PLXNA4_ENST00000423507.2_Splice_Site_p.M458V|PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTACCAGGCATCTGGAAAAGA	0.498													T|||	1277	0.254992	0.0333	0.3112	5008	,	,		18793	0.129		0.5865	False		,,,				2504	0.3037				p.M458V		Atlas-SNP	.											.	PLXNA4	873	.	0			c.A1372G						PASS	.	T	VAL/MET,	427,3411		25,377,1517	61	60	60		1372,	-4.6	0	7	dbSNP_86	60	4805,3475		1405,1995,740	yes	missense-near-splice,intron	PLXNA4	NM_001105543.1,NM_020911.1	21,	1430,2372,2257	CC,CT,TT		41.9686,11.1256,43.1754	,	458/493,	132070054	5232,6886	1919	4140	6059	SO:0001627	intron_variant	91584	exon4			CAGGCATCTGGAA	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1372-87073A>G	7.37:g.132070054T>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	661	0.30265567765567764	20	0.04065040650406504	120	0.3314917127071823	82	0.14335664335664336	439	0.579155672823219	T	0.022	-1.413205	0.01145	0.111256	0.580314	ENSG00000221866	ENST00000423507	T	0.02631	4.22	4.38	-4.6	0.03390	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44452	-0.9327	7	0.02654	T	1	.	0.4898	0.00562	0.3174:0.1444:0.3025:0.2357	rs741664;rs17820148;rs60373167;rs741664	458	Q9HCM2-2	.	V	458	ENSP00000392772:M458V	ENSP00000392772:M458V	M	-	1	0	PLXNA4	131720594	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.474000	0.06607	-0.485000	0.06754	0.383000	0.25322	ATG	C|0.318;N|0.000	0.318	strong		0.498	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		C	132070054	T	C	132070054	1	2	3	0	1	0	0	0	0	0	0	0	12122	1449	50	2		2	PLXNA4	7	132070054	Intron	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3675448	132070054	27068609	203	642										
AKR1B15	441282	hgsc.bcm.edu	37	chr7	134264286	134264286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catttggaggactttcccttCgatgcagaatattgaggttg	11	7	0	2	rs6467538	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:134264286C>T	ENST00000457545.2	+	12	1280	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	AKR1B15_ENST00000423958.1_Silent_p.F312F	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	340							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACTTTCCCTTCGATGCAGAAT	0.408													C|||	1681	0.335663	0.559	0.3084	5008	,	,		20009	0.1438		0.339	False		,,,				2504	0.2474				p.F340F		Atlas-SNP	.											.	AKR1B15	105	.	0			c.C1020T						PASS	.	C		2235,2169	554.5+/-379.0	576,1083,543	87	88	87		1020	-1.6	0	7	dbSNP_116	87	2959,5641	449.5+/-362.1	520,1919,1861	no	coding-synonymous	AKR1B15	NM_001080538.2		1096,3002,2404	TT,TC,CC		34.407,49.2507,39.9416		340/345	134264286	5194,7810	2202	4300	6502	SO:0001819	synonymous_variant	441282	exon12			TCCCTTCGATGCA		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.1020C>T	7.37:g.134264286C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	77	8	0.103896	NM_001080538	C9J3V2	Silent	SNP	ENST00000457545.2	37	CCDS47715.2																																																																																			C|0.651;T|0.349	0.349	strong		0.408	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134264286	C	T	134264286	2	4	3	1	0	0	0	0	0	0	0	1	468	883	31	1		1	AKR1B15	7	134264286	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2194232	134264286	24874377	204	643										
TAS2R38	5726	hgsc.bcm.edu	37	chr7	141672705	141672705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggggcacagagatgaaggcaGcacaggatgatatcacaaag	14	7	1	3	rs1726866	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:141672705G>A	ENST00000547270.1	-	1	868	c.785C>T	c.(784-786)gCt>gTt	p.A262V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	262			A -> V (in dbSNP:rs1726866). {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15496549, ECO:0000269|Ref.6}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A262V(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GATGAAGGCAGCACAGGATGA	0.512													G|||	2131	0.425519	0.3328	0.2853	5008	,	,		20513	0.3244		0.5388	False		,,,				2504	0.638				p.A262V		Atlas-SNP	.											TAS2R38,NS,carcinoma,-1,2	TAS2R38	51	2	1	Substitution - Missense(1)	stomach(1)	c.C785T	GRCh37	CM031369	TAS2R38	M	rs1726866	PASS	.	G	VAL/ALA	1504,2902	479.7+/-358.6	257,990,956	65	64	64	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	785	2.9	0	7	dbSNP_89	64	4683,3917	603.1+/-394.6	1267,2149,884	yes	missense	TAS2R38	NM_176817.4	64	1524,3139,1840	AA,AG,GG		45.5465,34.1353,47.5704	benign	262/334	141672705	6187,6819	2203	4300	6503	SO:0001583	missense	5726	exon1			AAGGCAGCACAGG	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.785C>T	7.37:g.141672705G>A	ENSP00000448219:p.Ala262Val	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	175	8	0.0457143	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	892	0.4084249084249084	151	0.30691056910569103	123	0.3397790055248619	203	0.3548951048951049	415	0.5474934036939314	G	8.762	0.923749	0.18056	0.341353	0.544535	ENSG00000257138	ENST00000547270	T	0.37058	1.22	4.77	2.94	0.34122	.	0.359425	0.24122	N	0.041347	T	0.00012	0.0000	L	0.55990	1.75	0.80722	P	0.0	B	0.24092	0.097	B	0.30572	0.117	T	0.42103	-0.9471	9	0.56958	D	0.05	.	6.5818	0.22598	0.0973:0.182:0.7207:0.0	rs1726866;rs17712758;rs61111288;rs1726866	262	P59533	T2R38_HUMAN	V	262	ENSP00000448219:A262V	ENSP00000331291:A262V	A	-	2	0	TAS2R38	141319174	0.001000	0.12720	0.001000	0.08648	0.182000	0.23217	0.902000	0.28459	0.712000	0.32039	0.655000	0.94253	GCT	G|0.560;A|0.440	0.440	strong		0.512	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		A	141672705	G	A	141672705	3	1	3	1	0	0	0	0	1	0	0	0	15572	971	34	2	220	2	TAS2R38	7	141672705	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	7408419	141672705	17465958	205	644										
MGAM	8972	hgsc.bcm.edu	37	chr7	141756637	141756637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tctttattttcagatgtgacGttccagcccctgcctgcctt	7	13	2	2	rs181422456	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:141756637G>A	ENST00000549489.2	+	30	3683	c.3588G>A	c.(3586-3588)acG>acA	p.T1196T	MGAM_ENST00000475668.2_Silent_p.T1196T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1196	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATGTGACGTTCCAGCCCC	0.522													g|||	3	0.000599042	0.0008	0.0029	5008	,	,		14732	0.0		0.0	False		,,,				2504	0.0				p.T1196T		Atlas-SNP	.											.	MGAM	767	.	0			c.G3588A						PASS	.						78	77	77					7																	141756637		1990	4160	6150	SO:0001819	synonymous_variant	8972	exon30			TGTGACGTTCCAG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3588G>A	7.37:g.141756637G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	69	15	0.217391	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																			G|1.000;A|0.000	0.000	strong		0.522	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141756637	G	A	141756637	2	1	3	1	0	0	0	0	0	0	0	1	9541	1132	40	1		1	MGAM	7	141756637	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	83932	141756637	17382026	206	645										
HTR5A	3361	hgsc.bcm.edu	37	chr7	154862621	154862621	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gacccagagatggatttaccTgtgaacctaacctccttttc	7	12	0	2	rs6320	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr7:154862621T>A	ENST00000287907.2	+	1	588	c.12T>A	c.(10-12)ccT>ccA	p.P4P	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P4P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGGATTTACCTGTGAACCTAA	0.612													T|||	1287	0.256989	0.211	0.2075	5008	,	,		17998	0.3492		0.2734	False		,,,				2504	0.2423				p.P4P		Atlas-SNP	.											HTR5A,NS,carcinoma,+1,2	HTR5A	114	2	1	Substitution - coding silent(1)	stomach(1)	c.T12A						scavenged	.	T		922,3484	353.1+/-312.0	99,724,1380	115	124	121		12	-2.8	0	7	dbSNP_52	121	2429,6171	402.8+/-347.6	358,1713,2229	no	coding-synonymous	HTR5A	NM_024012.2		457,2437,3609	AA,AT,TT		28.2442,20.926,25.765		4/358	154862621	3351,9655	2203	4300	6503	SO:0001819	synonymous_variant	3361	exon1			TTTACCTGTGAAC		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.12T>A	7.37:g.154862621T>A		Somatic	10	1	0.1		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_024012	Q2M2D2	Silent	SNP	ENST00000287907.2	37	CCDS5936.1																																																																																			T|0.726;A|0.274	0.274	strong		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154862621	T	A	154862621	2	1	3	1	0	0	0	0	0	0	0	1	7450	1567	55	5		5	HTR5A	7	154862621	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	13105984	154862621	4276042	207	646										
ANGPT2	285	hgsc.bcm.edu	37	chr8	6377433	6377433	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gttaacgtgtagatgccattCgtggtgtgtcctgatttgaa	12	6	0	3	rs1961222	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:6377433C>T	ENST00000325203.5	-	5	1356	c.882G>A	c.(880-882)acG>acA	p.T294T	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.T242T|ANGPT2_ENST00000523120.1_Silent_p.T293T|ANGPT2_ENST00000415216.1_Silent_p.T293T			O15123	ANGP2_HUMAN	angiopoietin 2	294	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGATGCCATTCGTGGTGTGTC	0.433													C|||	750	0.14976	0.0121	0.2104	5008	,	,		19696	0.0516		0.3419	False		,,,				2504	0.1963				p.T294T		Atlas-SNP	.											.	ANGPT2	126	.	0			c.G882A						PASS	.	C	,,,	268,4138	151.0+/-185.0	7,254,1942	365	313	330		879,726,882,	-9.7	0	8	dbSNP_92	330	2903,5697	455.6+/-363.8	468,1967,1865	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ANGPT2,MCPH1	NM_001118887.1,NM_001118888.1,NM_001147.2,NM_024596.3	,,,	475,2221,3807	TT,TC,CC		33.7558,6.0826,24.3811	,,,	293/496,242/445,294/497,	6377433	3171,9835	2203	4300	6503	SO:0001819	synonymous_variant	285	exon5			GCCATTCGTGGTG	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.882G>A	8.37:g.6377433C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	96	7	0.0729167	NM_001147	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	ENST00000325203.5	37	CCDS5958.1																																																																																			C|0.786;T|0.214	0.214	strong		0.433	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		T	6377433	C	T	6377433	2	4	3	1	0	0	0	0	0	0	0	1	611	871	31	1		1	ANGPT2	8	6377433	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		6377433	139986589	208	647										
PSD3	23362	hgsc.bcm.edu	37	chr8	18725428	18725428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctatcaggctctgagtataAtgtctccagggactctgcac	10	11	4	1	rs17127370	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:18725428A>G	ENST00000327040.8	-	4	1492	c.1390T>C	c.(1390-1392)Tta>Cta	p.L464L	PSD3_ENST00000440756.2_Silent_p.L464L|PSD3_ENST00000523619.1_Silent_p.L399L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	464					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGAGTATAATGTCTCCAGG	0.458													A|||	503	0.100439	0.2269	0.098	5008	,	,		18498	0.006		0.0507	False		,,,				2504	0.0798				p.L464L		Atlas-SNP	.											.	PSD3	142	.	0			c.T1390C						PASS	.	A		755,3095		77,601,1247	149	145	146		1390	1.6	0	8	dbSNP_123	146	453,7845		18,417,3714	no	coding-synonymous	PSD3	NM_015310.3		95,1018,4961	GG,GA,AA		5.4591,19.6104,9.944		464/1048	18725428	1208,10940	1925	4149	6074	SO:0001819	synonymous_variant	23362	exon4			AGTATAATGTCTC	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1390T>C	8.37:g.18725428A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																			A|0.898;G|0.102	0.102	strong		0.458	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18725428	A	G	18725428	2	3	3	1	0	0	0	0	0	0	0	1	12648	98	4	2		2	PSD3	8	18725428	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	12347995	18725428	127638594	209	648										
OPRK1	4986	hgsc.bcm.edu	37	chr8	54142312	54142312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacgaaggcaaagatgaagaCgcagatcttcatgaagaggt	12	7	2	6	rs186551684		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:54142312C>T	ENST00000265572.3	-	4	985	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	OPRK1_ENST00000524278.1_Missense_Mutation_p.V141I|OPRK1_ENST00000520287.1_Missense_Mutation_p.V230I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	230					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAGATGAAGACGCAGATCTTC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19957	0.0		0.0	False		,,,				2504	0.0				p.V230I		Atlas-SNP	.											OPRK1,colon,carcinoma,0,1	OPRK1	90	1	0			c.G688A						PASS	.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	76	82	80		688	5.7	1	8		80	0,8600		0,0,4300	no	missense	OPRK1	NM_000912.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	230/381	54142312	1,13005	2203	4300	6503	SO:0001583	missense	4986	exon4			TGAAGACGCAGAT		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.688G>A	8.37:g.54142312C>T	ENSP00000265572:p.Val230Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	122	41	0.336066	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.7	4.189259	0.78789	2.27E-4	0.0	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.71817	-0.6;-0.6;-0.6	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.31664	0.95	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.75572	-0.3271	10	0.41790	T	0.15	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	230	P41145	OPRK_HUMAN	I	230;141;230;216	ENSP00000265572:V230I;ENSP00000430923:V141I;ENSP00000429706:V230I	ENSP00000265572:V230I	V	-	1	0	OPRK1	54304865	1.000000	0.71417	0.973000	0.42090	0.620000	0.37586	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	GTC	C|1.000;T|0.000	0.000	strong		0.527	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			T	54142312	C	T	54142312	3	4	3	1	0	0	0	0	1	0	0	0	10885	536	19	1	458	1	OPRK1	8	54142312	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	35416884	54142312	92221710	210	649										
SOX17	64321	hgsc.bcm.edu	37	chr8	55372347	55372347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	actgccctgccgggacggcaCggaccccagtcagcccgccg	13	19	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:55372347C>T	ENST00000297316.4	+	2	1241	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	346	Gln/Pro-rich.|Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGGGACGGCACGGACCCCAGT	0.692																																					p.T346M		Atlas-SNP	.											.	SOX17	37	.	0			c.C1037T						PASS	.						17	20	19					8																	55372347		2201	4297	6498	SO:0001583	missense	64321	exon2			ACGGCACGGACCC	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1037C>T	8.37:g.55372347C>T	ENSP00000297316:p.Thr346Met	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	18	9	0.5	NM_022454		Missense_Mutation	SNP	ENST00000297316.4	37	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100586	0.37048	.	.	ENSG00000164736	ENST00000297316	T	0.75938	-0.98	4.72	1.31	0.21738	.	0.746294	0.12225	N	0.487973	T	0.52240	0.1722	N	0.14661	0.345	0.27685	N	0.946303	B	0.18310	0.027	B	0.14023	0.01	T	0.41645	-0.9497	10	0.44086	T	0.13	.	3.8408	0.08914	0.0:0.4588:0.2057:0.3356	.	346	Q9H6I2	SOX17_HUMAN	M	346	ENSP00000297316:T346M	ENSP00000297316:T346M	T	+	2	0	SOX17	55534900	0.971000	0.33674	0.666000	0.29783	0.578000	0.36192	1.665000	0.37449	0.392000	0.25172	0.455000	0.32223	ACG	.	.	none		0.692	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			T	55372347	C	T	55372347	3	4	3	1	0	0	0	0	1	0	0	0	14947	536	19	1	1043	1	SOX17	8	55372347	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1230035	55372347	90991675	211	650										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77690572	77690572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcggtgaagcatcagcagacTgagggcctacggaagctcca	13	11	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:77690572T>C	ENST00000521891.2	+	4	3670	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Silent_p.T1048T|ZFHX4_ENST00000518282.1_Silent_p.T1048T|ZFHX4_ENST00000455469.2_Silent_p.T1048T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1048					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)			ATCAGCAGACTGAGGGCCTAC	0.507										HNSCC(33;0.089)																											p.T1074T		Atlas-SNP	.											.	ZFHX4	878	.	0			c.T3222C						PASS	.						148	158	154					8																	77690572		2068	4205	6273	SO:0001819	synonymous_variant	79776	exon4			GCAGACTGAGGGC		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.3222T>C	8.37:g.77690572T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	80	29	0.3625	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.	.	none		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77690572	T	C	77690572	2	2	3	1	0	0	0	0	0	0	0	1	17632	1567	55	3		3	ZFHX4	8	77690572	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	22318225	77690572	68673450	212	651										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100133706	100133706	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcttgctgtttatatctctaTcaactttaatgcttaaattt	3	7	3	0	rs7460625	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:100133706T>G	ENST00000358544.2	+	8	1317				VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Y413*|CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000355155.1_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATATCTCTATCAACTTTAAT	0.333													G|||	3531	0.705072	0.7088	0.5807	5008	,	,		19997	0.5337		0.7903	False		,,,				2504	0.8773				p.Y413X	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.T1239G						PASS	.	G	,,,stop/TYR	3001,1405	454.5+/-350.7	1032,937,234	113	117	115		,,,1239	3.3	0	8	dbSNP_116	115	6827,1773	320.0+/-314.4	2702,1423,175	yes	intron,intron,intron,stop-gained	VPS13B	NM_015243.2,NM_017890.3,NM_152564.3,NM_181661.2	,,,	3734,2360,409	GG,GT,TT		20.6163,31.8883,24.4349	,,,	,,,413/416	100133706	9828,3178	2203	4300	6503	SO:0001627	intron_variant	157680	exon8			TCTCTATCAACTT	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1206+33T>G	8.37:g.100133706T>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_181661	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	1450	0.6639194139194139	328	0.6666666666666666	232	0.6408839779005525	306	0.534965034965035	584	0.7704485488126649	G	14.97	2.693883	0.48202	0.681117	0.793837	ENSG00000132549	ENST00000441350	.	.	.	5.66	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.265	0.10759	0.1639:0.0686:0.1109:0.6566	rs7460625;rs60785353;rs7460625	.	.	.	X	413	.	.	Y	+	3	2	VPS13B	100202882	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.041000	0.13927	0.119000	0.18210	-1.113000	0.02065	TAT	T|0.294;G|0.706	0.706	strong		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100133706	T	G	100133706	1	3	3	0	1	0	0	0	0	0	0	0	17187	1442	50	5		5	VPS13B	8	100133706	Intron	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	22443134	100133706	46230316	213	652										
KLHL38	340359	hgsc.bcm.edu	37	chr8	124664792	124664792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccaactggctctgcaagtaCgaggagcaggcctcaaacag	12	12	2	0	rs7387544	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:124664792C>T	ENST00000325995.7	-	1	398	c.375G>A	c.(373-375)tcG>tcA	p.S125S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	125										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCTGCAAGTACGAGGAGCAGG	0.562													C|||	3548	0.708466	0.6657	0.6902	5008	,	,		20607	0.7113		0.8022	False		,,,				2504	0.68				p.S125S		Atlas-SNP	.											KLHL38,NS,carcinoma,-1,1	KLHL38	81	1	0			c.G375A						scavenged	.	C		2820,1162		994,832,165	47	52	51		375	-10.9	0.3	8	dbSNP_116	51	6554,1758		2596,1362,198	no	coding-synonymous	KLHL38	NM_001081675.2		3590,2194,363	TT,TC,CC		21.1501,29.1813,23.7514		125/582	124664792	9374,2920	1991	4156	6147	SO:0001819	synonymous_variant	340359	exon1			CAAGTACGAGGAG		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.375G>A	8.37:g.124664792C>T		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	69	6	0.0869565	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																			C|0.264;T|0.736	0.736	strong		0.562	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			T	124664792	C	T	124664792	2	4	3	1	0	0	0	0	0	0	0	1	8390	523	19	1		1	KLHL38	8	124664792	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	24531086	124664792	21699230	214	653										
MYC	4609	hgsc.bcm.edu	37	chr8	128750844	128750844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgggaggagacatggtgaaCcagagtttcatctgcgaccc	13	10	2	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:128750844C>T	ENST00000259523.6	+	2	1541	c.336C>T	c.(334-336)aaC>aaT	p.N112N	MYC_ENST00000524013.1_Silent_p.N126N|MYC_ENST00000377970.2_Silent_p.N127N			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	112					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACATGGTGAACCAGAGTTTCA	0.607		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N127N		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.C381T						PASS	.						65	65	65					8																	128750844		2203	4300	6503	SO:0001819	synonymous_variant	4609	exon2			GGTGAACCAGAGT		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.336C>T	8.37:g.128750844C>T		Somatic	118	0	0	1567	WXS	Illumina HiSeq	Phase_I	90	36	0.4	NM_002467	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37																																																																																				.	.	none		0.607	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			T	128750844	C	T	128750844	2	4	3	1	0	0	0	0	0	0	0	1	10016	506	18	2		2	MYC	8	128750844	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	4086052	128750844	17613178	215	654										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144941419	144941419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccagcagcctcagtgcctcCgccttctcgatgagctgctt	9	16	2	1	rs12681478	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:144941419C>T	ENST00000525985.1	-	2	6074	c.6003G>A	c.(6001-6003)gcG>gcA	p.A2001A				P58107	EPIPL_HUMAN	epiplakin 1	2001						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCGCCTTCTCGA	0.642													C|||	1066	0.212859	0.0113	0.33	5008	,	,		18060	0.1399		0.3708	False		,,,				2504	0.3149				p.A2001A		Atlas-SNP	.											EPPK1,NS,carcinoma,0,1	EPPK1	199	1	0			c.G6003A						scavenged	.	C		369,3945		22,325,1810	35	39	37		6003	-3.7	0	8	dbSNP_120	37	3411,5111		676,2059,1526	no	coding-synonymous	EPPK1	NM_031308.1		698,2384,3336	TT,TC,CC		40.0258,8.5535,29.4484		2001/2420	144941419	3780,9056	2157	4261	6418	SO:0001819	synonymous_variant	83481	exon1			TGCCTCCGCCTTC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6003G>A	8.37:g.144941419C>T		Somatic	94	2	0.0212766		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_031308	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				C|0.740;T|0.260	0.260	strong		0.642	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144941419	C	T	144941419	2	4	3	1	0	0	0	0	0	0	0	1	5190	639	23	1		1	EPPK1	8	144941419	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	16190575	144941419	1422603	216	655										
PLEC	5339	hgsc.bcm.edu	37	chr8	145024578	145024578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atggcgacggggcggcgcacGcgctgcagagaggcgggcac	20	12	0	1	rs190222339	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr8:145024578G>A	ENST00000322810.4	-	1	466	c.297C>T	c.(295-297)cgC>cgT	p.R99R	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	99	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGGCGCACGCGCTGCAGAG	0.706													G|||	16	0.00319489	0.0	0.0	5008	,	,		14710	0.0		0.0089	False		,,,				2504	0.0072				p.R99R		Atlas-SNP	.											.	PLEC	1144	.	0			c.C297T						PASS	.	G	,,,	7,4153		0,7,2073	21	33	29		,,,297	-8.1	0.6	8		29	82,8238		0,82,4078	no	intron,intron,intron,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2	,,,	0,89,6151	AA,AG,GG		0.9856,0.1683,0.7131	,,,	,,,99/4685	145024578	89,12391	2080	4160	6240	SO:0001819	synonymous_variant	5339	exon1			GCGCACGCGCTGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.297C>T	8.37:g.145024578G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	117	7	0.0598291	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.997;A|0.003	0.003	strong		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	145024578	G	A	145024578	2	1	3	1	0	0	0	0	0	0	0	1	12052	1074	38	1		1	PLEC	8	145024578	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	83159	145024578	1339444	217	656										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117998	117998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctaggaactgctggctcgccGcctcctcctcgtcttcatct	8	17	3	0	rs66612967	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:117998G>T	ENST00000382500.2	-	1	419	c.122C>A	c.(121-123)gCg>gAg	p.A41E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41E(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTCGCCGCCTCCTCCTC	0.682													T|||	111	0.0221645	0.0749	0.013	5008	,	,		13954	0.001		0.002	False		,,,				2504	0.0				p.A41E		Atlas-SNP	.											FOXD4_ENST00000382500,NS,carcinoma,0,3	FOXD4	75	3	1	Substitution - Missense(1)	skin(1)	c.C122A						scavenged	.						38	53	48					9																	117998		2203	4298	6501	SO:0001583	missense	2298	exon1			CTCGCCGCCTCCT	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.122C>A	9.37:g.117998G>T	ENSP00000371940:p.Ala41Glu	Somatic	374	28	0.0748663		WXS	Illumina HiSeq	Phase_I	406	64	0.157635	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	50	0.022893772893772892	43	0.08739837398373984	4	0.011049723756906077	3	0.005244755244755245	0	0.0	.	0.012	-1.673624	0.00758	.	.	ENSG00000170122	ENST00000382500	D	0.94457	-3.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.13030	0.0316	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57458	-0.7808	9	0.02654	T	1	.	4.5559	0.12136	0.0:0.0:0.3427:0.6573	.	41	Q12950	FOXD4_HUMAN	E	41	ENSP00000371940:A41E	ENSP00000371940:A41E	A	-	2	0	FOXD4	107998	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.379000	0.07437	0.095000	0.17434	-1.316000	0.01300	GCG	G|0.977;T|0.023	0.023	strong		0.682	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117998	G	T	117998	3	4	3	1	0	0	0	0	1	0	0	0	5999	1087	38	4	1201	4	FOXD4	9	117998	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		117998	141095433	218	657										
FREM1	158326	hgsc.bcm.edu	37	chr9	14846036	14846036	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aatgtcgtcattgtcgacaaCctgaaactgttcccaagtga	8	10	1	2	rs2779500	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:14846036C>G	ENST00000380880.3	-	8	2098	c.1315G>C	c.(1315-1317)Gtt>Ctt	p.V439L	FREM1_ENST00000422223.2_Missense_Mutation_p.V439L|FREM1_ENST00000380881.4_Missense_Mutation_p.V440L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	439			V -> L (in dbSNP:rs2779500). {ECO:0000269|PubMed:15878328}.		cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V440L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGTCGACAACCTGAAACTGT	0.488													C|||	2508	0.500799	0.4576	0.5	5008	,	,		19643	0.2708		0.6233	False		,,,				2504	0.6708				p.V439L		Atlas-SNP	.											FREM1,NS,carcinoma,0,1	FREM1	261	1	1	Substitution - Missense(1)	stomach(1)	c.G1315C						scavenged	.	C	LEU/VAL	2038,2146		517,1004,571	60	65	63		1315	1	1	9	dbSNP_100	63	5134,3328		1564,2006,661	yes	missense	FREM1	NM_144966.5	32	2081,3010,1232	GG,GC,CC		39.3288,48.7094,43.2864	benign	439/2180	14846036	7172,5474	2092	4231	6323	SO:0001583	missense	158326	exon9			CGACAACCTGAAA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1315G>C	9.37:g.14846036C>G	ENSP00000370262:p.Val439Leu	Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	178	3	0.0168539	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	1053	0.48214285714285715	219	0.4451219512195122	187	0.5165745856353591	175	0.30594405594405594	472	0.6226912928759895	C	8.581	0.882357	0.17467	0.487094	0.606712	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.42131	0.98;0.98;0.98	4.65	0.988	0.19796	.	0.353172	0.31221	N	0.008034	T	0.00012	0.0000	N	0.25201	0.72	0.32668	P	0.5171399999999999	B	0.15141	0.012	B	0.19391	0.025	T	0.42982	-0.9419	9	0.41790	T	0.15	-6.7469	10.5066	0.44836	0.0:0.2214:0.0:0.7786	rs2779500;rs2779500	439	Q5H8C1	FREM1_HUMAN	L	440;439;439	ENSP00000370263:V440L;ENSP00000412940:V439L;ENSP00000370262:V439L	ENSP00000370257:V442L	V	-	1	0	FREM1	14836036	1.000000	0.71417	0.994000	0.49952	0.112000	0.19704	1.299000	0.33424	-0.017000	0.14103	-1.214000	0.01621	GTT	C|0.496;G|0.504	0.504	strong		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14846036	C	G	14846036	3	3	3	1	0	0	0	0	1	0	0	0	6044	507	18	4	5394	4	FREM1	9	14846036	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	14728038	14846036	126367395	219	658										
MLLT3	4300	hgsc.bcm.edu	37	chr9	20414310	20414310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgctgctactgctgctgctActgctgctgctgctgctgct	11	14	0	0	rs148318848	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:20414310A>G	ENST00000380338.4	-	5	820	c.534T>C	c.(532-534)agT>agC	p.S178S	MLLT3_ENST00000429426.2_Silent_p.S175S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	178	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.527			T	MLL	ALL								A|||	169	0.033746	0.0272	0.0231	5008	,	,		12860	0.0169		0.0308	False		,,,				2504	0.0706				p.S178S		Atlas-SNP	.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,0,1	MLLT3	125	1	0			c.T534C						scavenged	.						25	33	30					9																	20414310		2142	4195	6337	SO:0001819	synonymous_variant	4300	exon5			GCTGCTACTGCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.534T>C	9.37:g.20414310A>G		Somatic	50	3	0.06		WXS	Illumina HiSeq	Phase_I	68	7	0.102941	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																			.	.	weak		0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		G	20414310	A	G	20414310	2	3	3	1	0	0	0	0	0	0	0	1	9628	388	14	2		2	MLLT3	9	20414310	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	5568274	20414310	120799121	220	659										
TAF1L	138474	hgsc.bcm.edu	37	chr9	32631196	32631196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatgctctctgaactcttccCgagatgggtagaggcattta	11	9	2	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:32631196C>T	ENST00000242310.4	-	1	4471	c.4382G>A	c.(4381-4383)cGg>cAg	p.R1461Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1461	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAACTCTTCCCGAGATGGGTA	0.443																																					p.R1461Q		Atlas-SNP	.											TAF1L,NS,carcinoma,0,1	TAF1L	382	1	0			c.G4382A						scavenged	.						202	178	186					9																	32631196		2203	4300	6503	SO:0001583	missense	138474	exon1			TCTTCCCGAGATG	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4382G>A	9.37:g.32631196C>T	ENSP00000418379:p.Arg1461Gln	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	301	6	0.0199336	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208342	0.95033	.	.	ENSG00000122728	ENST00000242310	T	0.29142	1.58	1.17	1.17	0.20885	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	M	0.83012	2.62	0.50171	D	0.999855	D	0.89917	1.0	D	0.79108	0.992	T	0.53788	-0.8389	10	0.87932	D	0	.	8.1775	0.31292	0.0:1.0:0.0:0.0	.	1461	Q8IZX4	TAF1L_HUMAN	Q	1461	ENSP00000418379:R1461Q	ENSP00000418379:R1461Q	R	-	2	0	TAF1L	32621196	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.098000	0.64548	0.514000	0.28300	0.205000	0.17691	CGG	.	.	none		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32631196	C	T	32631196	3	4	3	1	0	0	0	0	1	0	0	0	15520	652	23	1	1102	1	TAF1L	9	32631196	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	12216886	32631196	108582235	221	660										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797962	33797962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aatgacatcatgctgatcaaActctcctcacctgccgtcat	5	14	5	2	rs374178684		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:33797962A>G	ENST00000361005.5	+	3	507	c.507A>G	c.(505-507)aaA>aaG	p.K169K	PRSS3_ENST00000342836.4_Silent_p.K126K|PRSS3_ENST00000429677.3_Silent_p.K105K|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.K112K	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGCTGATCAAACTCTCCTCAC	0.567																																					p.K169K		Atlas-SNP	.											PRSS3_ENST00000361005,NS,neuroblastoma,0,3	PRSS3	79	3	0			c.A507G						scavenged	.						266	201	223					9																	33797962		2203	4300	6503	SO:0001819	synonymous_variant	5646	exon3			GATCAAACTCTCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.507A>G	9.37:g.33797962A>G		Somatic	157	5	0.0318471		WXS	Illumina HiSeq	Phase_I	133	5	0.037594	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																			.	.	weak		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		G	33797962	A	G	33797962	2	3	3	1	0	0	0	0	0	0	0	1	12622	40	2	2		2	PRSS3	9	33797962	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1166766	33797962	107415469	222	661										
C9orf79	286234	hgsc.bcm.edu	37	chr9	90501448	90501448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgccctcccagccttctgaCtttgcagggaagggcaggaa	12	12	1	1	rs4076795	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:90501448C>A	ENST00000325643.5	+	4	2112	c.2046C>A	c.(2044-2046)gaC>gaA	p.D682E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	682			D -> E (in dbSNP:rs4076795). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCCTTCTGACTTTGCAGGGA	0.612													.|||	3810	0.760783	0.9493	0.719	5008	,	,		18296	0.877		0.5666	False		,,,				2504	0.6155				p.D682E		Atlas-SNP	.											C9orf79,caecum,carcinoma,0,1	.	.	1	0			c.C2046A						PASS	.	A	GLU/ASP	3876,530	229.1+/-243.8	1714,448,41	46	60	55		2046	-4.9	0	9	dbSNP_108	55	4640,3958	541.8+/-384.1	1274,2092,933	yes	missense	C9orf79	NM_178828.4	45	2988,2540,974	AA,AC,CC		46.034,12.0291,34.5125	benign	682/1446	90501448	8516,4488	2203	4299	6502	SO:0001583	missense	286234	exon4			TTCTGACTTTGCA	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2046C>A	9.37:g.90501448C>A	ENSP00000322640:p.Asp682Glu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	6	0.0821918	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	1642	0.7518315018315018	461	0.9369918699186992	255	0.7044198895027625	499	0.8723776223776224	427	0.5633245382585752	a	0.008	-1.902883	0.00512	0.879709	0.53966	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.05925	3.37	2.43	-4.86	0.03132	.	11.086800	0.00834	N	0.001682	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31251	-0.9950	9	0.02654	T	1	.	5.9254	0.19110	0.4823:0.3453:0.1724:0.0	rs4076795;rs17536349;rs57937710;rs4076795	682;334	Q6ZUB1;Q8NA33	CI079_HUMAN;.	E	682;334	ENSP00000322640:D682E	ENSP00000322640:D682E	D	+	3	2	C9orf79	89691268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.165000	0.01274	-2.299000	0.00659	-1.398000	0.01145	GAC	C|0.297;N|0.002	.	strong		0.612	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90501448	C	A	90501448	3	1	3	1	0	0	0	0	1	0	0	0	2497	564	20	4	2060	4	C9orf79	9	90501448	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	56703486	90501448	50711983	223	662										
ZNF782	158431	hgsc.bcm.edu	37	chr9	99581542	99581542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggaataataaaggttgattTatcatatttgttttccccaa	6	5	1	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:99581542T>C	ENST00000481138.1	-	6	1424	c.763A>G	c.(763-765)Aaa>Gaa	p.K255E	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.K123E	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	255					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(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AAGGTTGATTTATCATATTTG	0.328																																					p.K255E		Atlas-SNP	.											.	ZNF782	64	.	0			c.A763G						PASS	.						81	86	84					9																	99581542		2202	4299	6501	SO:0001583	missense	158431	exon6			TTGATTTATCATA	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.763A>G	9.37:g.99581542T>C	ENSP00000419397:p.Lys255Glu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	79	22	0.278481	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770680	0.31320	.	.	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.07021	3.44;3.23	3.53	2.39	0.29439	.	0.000000	0.35708	N	0.003027	T	0.05914	0.0154	L	0.48362	1.52	0.09310	N	1	B	0.32203	0.36	B	0.24269	0.052	T	0.31752	-0.9932	10	0.41790	T	0.15	.	3.0506	0.06168	0.2109:0.1157:0.0:0.6734	.	255	Q6ZMW2	ZN782_HUMAN	E	255;123	ENSP00000419397:K255E;ENSP00000440624:K123E	ENSP00000419397:K255E	K	-	1	0	ZNF782	98621363	0.009000	0.17119	0.003000	0.11579	0.035000	0.12851	0.984000	0.29565	0.730000	0.32425	0.529000	0.55759	AAA	.	.	none		0.328	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		C	99581542	T	C	99581542	3	2	3	1	0	0	0	0	1	0	0	0	18152	1763	61	2	1340	2	ZNF782	9	99581542	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	9080094	99581542	41631889	224	663										
MURC	347273	hgsc.bcm.edu	37	chr9	103348634	103348634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tatcctccccatgaaggaagGgaaatccccacccccgagcc	8	17	0	1	rs2780956	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:103348634G>A	ENST00000307584.5	+	2	1061	c.996G>A	c.(994-996)agG>agA	p.R332R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	332					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				ATGAAGGAAGGGAAATCCCCA	0.483													G|||	1469	0.293331	0.2405	0.4784	5008	,	,		15010	0.0804		0.4254	False		,,,				2504	0.317				p.R332R		Atlas-SNP	.											.	MURC	43	.	0			c.G996A						PASS	.	G		1353,3053	445.9+/-347.8	209,935,1059	48	51	50		996	3.4	0.2	9	dbSNP_100	50	3583,5017	516.7+/-378.9	729,2125,1446	no	coding-synonymous	MURC	NM_001018116.1		938,3060,2505	AA,AG,GG		41.6628,30.7081,37.9517		332/365	103348634	4936,8070	2203	4300	6503	SO:0001819	synonymous_variant	347273	exon2			AGGAAGGGAAATC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.996G>A	9.37:g.103348634G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	52	5	0.0961538	NM_001018116	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																			G|0.649;A|0.351	0.351	strong		0.483	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		A	103348634	G	A	103348634	2	1	3	1	0	0	0	0	0	0	0	1	9987	1223	43	2		2	MURC	9	103348634	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3767092	103348634	37864797	225	664										
LPPR1	54886	hgsc.bcm.edu	37	chr9	104079734	104079734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccgtggagtacccctaatgGctttcccaaggatagaaagc	10	12	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:104079734G>T	ENST00000374874.3	+	7	1340	c.901G>T	c.(901-903)Gct>Tct	p.A301S	LPPR1_ENST00000395056.2_Missense_Mutation_p.A301S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		301					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ACCCCTAATGGCTTTCCCAAG	0.493																																					p.A301S		Atlas-SNP	.											.	.	.	.	0			c.G901T						PASS	.						115	121	119					9																	104079734		2203	4300	6503	SO:0001583	missense	0	exon7			CTAATGGCTTTCC																												ENST00000374874.3:c.901G>T	9.37:g.104079734G>T	ENSP00000364008:p.Ala301Ser	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	134	41	0.30597	NM_207299	Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	8.333	0.826970	0.16749	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.28454	1.61;1.61	5.79	5.79	0.91817	.	0.062463	0.64402	D	0.000004	T	0.19167	0.0460	N	0.19112	0.55	0.53688	D	0.999973	B;B	0.29378	0.004;0.243	B;B	0.21917	0.005;0.037	T	0.06267	-1.0836	10	0.02654	T	1	-36.4594	19.0195	0.92908	0.0:0.0:1.0:0.0	.	285;301	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	S	301	ENSP00000364008:A301S;ENSP00000378496:A301S	ENSP00000364005:A301S	A	+	1	0	RP11-35N6.1	103119555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.250000	0.78287	2.746000	0.94184	0.655000	0.94253	GCT	.	.	none		0.493	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			T	104079734	G	T	104079734	3	4	3	1	0	0	0	0	1	0	0	0	8924	1203	42	4	923	4	LPPR1	9	104079734	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	731100	104079734	37133697	226	665										
SMC2	10592	hgsc.bcm.edu	37	chr9	106889642	106889642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cccaagacactgtaattaaaGctaaatatgcagaagtggca	8	8	0	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:106889642G>T	ENST00000286398.7	+	20	2959	c.2671G>T	c.(2671-2673)Gct>Tct	p.A891S	SMC2_ENST00000374787.3_Missense_Mutation_p.A891S|SMC2_ENST00000303219.8_Missense_Mutation_p.A891S|SMC2_ENST00000374793.3_Missense_Mutation_p.A891S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	891					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTAATTAAAGCTAAATATGC	0.353																																					p.A891S		Atlas-SNP	.											SMC2L1,NS,carcinoma,0,2	SMC2	127	2	0			c.G2671T						scavenged	.						148	141	144					9																	106889642		2203	4300	6503	SO:0001583	missense	10592	exon20			ATTAAAGCTAAAT	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2671G>T	9.37:g.106889642G>T	ENSP00000286398:p.Ala891Ser	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	377	5	0.0132626	NM_006444	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328521	0.24167	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	6.05	1.84	0.25277	RecF/RecN/SMC (1);	0.447307	0.26871	N	0.022064	T	0.51719	0.1691	N	0.16833	0.445	0.27672	N	0.946729	B	0.09022	0.002	B	0.10450	0.005	T	0.31779	-0.9931	10	0.09843	T	0.71	0.554	8.4486	0.32858	0.4182:0.0:0.5818:0.0	.	891	O95347	SMC2_HUMAN	S	891	ENSP00000286398:A891S;ENSP00000363925:A891S;ENSP00000306152:A891S;ENSP00000363919:A891S	ENSP00000286398:A891S	A	+	1	0	SMC2	105929463	0.831000	0.29352	0.996000	0.52242	0.998000	0.95712	0.210000	0.17455	0.057000	0.16193	0.650000	0.86243	GCT	.	.	none		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			T	106889642	G	T	106889642	3	4	3	1	0	0	0	0	1	0	0	0	14783	971	34	4	2745	4	SMC2	9	106889642	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2809908	106889642	34323789	227	666										
ABCA1	19	hgsc.bcm.edu	37	chr9	107620867	107620867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgctgcagccagtttctccCttggtaggccacaaagctca	9	14	2	0	rs2230806	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:107620867C>T	ENST00000374736.3	-	7	1050	c.656G>A	c.(655-657)aGg>aAg	p.R219K	ABCA1_ENST00000423487.2_Missense_Mutation_p.R219K	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	219			R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806). {ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11238261, ECO:0000269|PubMed:11257261, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:12624133, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:15520867}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R219K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGTTTCTCCCTTGGTAGGCC	0.468													C|||	2202	0.439696	0.7103	0.3487	5008	,	,		19674	0.4147		0.2425	False		,,,				2504	0.3671				p.R219K		Atlas-SNP	.											ABCA1,NS,carcinoma,0,1	ABCA1	244	1	1	Substitution - Missense(1)	stomach(1)	c.G656A	GRCh37	CM030397	ABCA1	M	rs2230806	scavenged	.	C	LYS/ARG	2672,1734	648.2+/-398.7	820,1032,351	154	151	152	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	656	0.1	0.2	9	dbSNP_98	152	2420,6180	400.1+/-346.7	322,1776,2202	yes	missense	ABCA1	NM_005502.3	26	1142,2808,2553	TT,TC,CC		28.1395,39.3554,39.1512	benign	219/2262	107620867	5092,7914	2203	4300	6503	SO:0001583	missense	19	exon7			TTCTCCCTTGGTA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.656G>A	9.37:g.107620867C>T	ENSP00000363868:p.Arg219Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	117	3	0.025641	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	916	0.4194139194139194	356	0.7235772357723578	127	0.35082872928176795	250	0.4370629370629371	183	0.24142480211081793	C	7.792	0.711767	0.15306	0.606446	0.281395	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.94931	-2.23;-3.56	6.17	0.0573	0.14322	.	0.632115	0.18950	N	0.126712	T	0.00012	0.0000	N	0.04880	-0.145	0.28835	P	0.896936	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	9	0.16896	T	0.51	.	8.2419	0.31665	0.0:0.3764:0.0:0.6236	rs2230806;rs2234884;rs2853572;rs52801000;rs61696010;rs2230806	219	O95477	ABCA1_HUMAN	K	219	ENSP00000363868:R219K;ENSP00000416623:R219K	ENSP00000363868:R219K	R	-	2	0	ABCA1	106660688	0.825000	0.29262	0.227000	0.23927	0.534000	0.34807	0.318000	0.19504	0.083000	0.17047	0.655000	0.94253	AGG	C|0.587;T|0.413	0.413	strong		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107620867	C	T	107620867	3	4	3	1	0	0	0	0	1	0	0	0	28	681	24	2	6305	2	ABCA1	9	107620867	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	731225	107620867	33592564	228	667										
FKBP15	23307	hgsc.bcm.edu	37	chr9	115931703	115931703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggggtctgaagtcagggacaGtcttgtggagctttcttgta	15	6	4	1	rs3810910	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:115931703G>A	ENST00000238256.3	-	26	3403	c.3286C>T	c.(3286-3288)Ctg>Ttg	p.L1096L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1096					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GTCAGGGACAGTCTTGTGGAG	0.577													G|||	1420	0.283546	0.3351	0.2954	5008	,	,		17925	0.1617		0.3489	False		,,,				2504	0.2638				p.L1096L		Atlas-SNP	.											.	FKBP15	128	.	0			c.C3286T						PASS	.	G		1174,2710		177,820,945	96	98	98		3286	3.5	0	9	dbSNP_107	98	2704,5574		443,1818,1878	no	coding-synonymous	FKBP15	NM_015258.1		620,2638,2823	AA,AG,GG		32.6649,30.2266,31.8862		1096/1220	115931703	3878,8284	1942	4139	6081	SO:0001819	synonymous_variant	23307	exon26			GGGACAGTCTTGT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3286C>T	9.37:g.115931703G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																			G|0.712;A|0.288	0.288	strong		0.577	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		A	115931703	G	A	115931703	2	1	3	1	0	0	0	0	0	0	0	1	5905	1020	36	2		2	FKBP15	9	115931703	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8310836	115931703	25281728	229	668										
TNC	3371	hgsc.bcm.edu	37	chr9	117797597	117797597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acctcagtagcagtcaagtcTcttggagaatcgaggtctgg	12	9	4	1	rs12347433	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:117797597T>C	ENST00000350763.4	-	22	6084	c.5673A>G	c.(5671-5673)agA>agG	p.R1891R	TNC_ENST00000537320.1_Silent_p.R1254R|TNC_ENST00000340094.3_Silent_p.R1527R|TNC_ENST00000346706.3_Silent_p.R1345R|TNC_ENST00000345230.3_Silent_p.R1254R|TNC_ENST00000423613.2_Silent_p.R1618R|TNC_ENST00000542877.1_Silent_p.R1528R|TNC_ENST00000535648.1_Silent_p.R1436R|TNC_ENST00000341037.4_Silent_p.R1709R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1891	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R1891R(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGTCAAGTCTCTTGGAGAAT	0.512													T|||	773	0.154353	0.0666	0.1484	5008	,	,		19335	0.129		0.2793	False		,,,				2504	0.1748				p.R1891R		Atlas-SNP	.											TNC,NS,carcinoma,0,1	TNC	282	1	1	Substitution - coding silent(1)	stomach(1)	c.A5673G						scavenged	.	T		404,4002	199.4+/-223.0	21,362,1820	72	72	72		5673	6	1	9	dbSNP_120	72	2313,6287	389.1+/-342.8	320,1673,2307	no	coding-synonymous	TNC	NM_002160.3		341,2035,4127	CC,CT,TT		26.8953,9.1693,20.8904		1891/2202	117797597	2717,10289	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon22			CAAGTCTCTTGGA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5673A>G	9.37:g.117797597T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	69	3	0.0434783	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	383	0.17536630036630035	40	0.08130081300813008	46	0.1270718232044199	85	0.1486013986013986	212	0.2796833773087071	T	10.49	1.365894	0.24684	0.091693	0.268953	ENSG00000041982	ENST00000544972	T	0.57436	0.4	5.97	5.97	0.96955	.	0.206129	0.51477	D	0.000084	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22034	-1.0228	6	0.48119	T	0.1	.	10.4647	0.44600	0.0:0.1145:0.0:0.8855	rs12347433;rs17240303;rs12347433	.	.	.	G	454	ENSP00000445380:R454G	ENSP00000445380:R454G	R	-	1	2	TNC	116837418	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.042000	0.49815	2.274000	0.75844	0.533000	0.62120	AGA	T|0.813;C|0.187	0.187	strong		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117797597	T	C	117797597	2	2	3	1	0	0	0	0	0	0	0	1	16267	1548	54	3		3	TNC	9	117797597	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1865894	117797597	23415834	230	669										
ADAMTS13	11093	hgsc.bcm.edu	37	chr9	136287582	136287582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggatgcaccagcgtcaccccCgggcaagatgccctcccctc	10	19	1	1	rs34024143	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:136287582C>T	ENST00000371929.3	+	1	463	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.R7W|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R7W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R7W|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.R7W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	7			R -> W (does not affect protein secretion; dbSNP:rs34024143). {ECO:0000269|PubMed:11586351, ECO:0000269|Ref.6}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCGTCACCCCCGGGCAAGATG	0.632													C|||	264	0.0527157	0.0356	0.0735	5008	,	,		16616	0.006		0.1262	False		,,,				2504	0.0337				p.R7W		Atlas-SNP	.											ADAMTS13,colon,carcinoma,-2,1	ADAMTS13	113	1	0			c.C19T						scavenged	.	C	TRP/ARG,TRP/ARG,TRP/ARG	228,4178	136.5+/-172.5	3,222,1978	84	78	80		19,19,19	-6.6	0	9	dbSNP_126	80	1071,7529	225.5+/-261.6	66,939,3295	yes	missense,missense,missense	ADAMTS13	NM_139025.3,NM_139026.3,NM_139027.3	101,101,101	69,1161,5273	TT,TC,CC		12.4535,5.1748,9.9877	benign,benign,benign	7/1428,7/1341,7/1372	136287582	1299,11707	2203	4300	6503	SO:0001583	missense	11093	exon1			CACCCCCGGGCAA	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.19C>T	9.37:g.136287582C>T	ENSP00000360997:p.Arg7Trp	Somatic	33	1	0.030303		WXS	Illumina HiSeq	Phase_I	29	3	0.103448	NM_139026	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	153	0.07005494505494506	26	0.052845528455284556	26	0.0718232044198895	5	0.008741258741258742	96	0.1266490765171504	C	9.203	1.028867	0.19512	0.051748	0.124535	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911	T;T;T;T;D	0.85339	-0.13;-1.45;-0.17;-0.2;-1.97	3.35	-6.55	0.01854	.	.	.	.	.	T	0.01061	0.0035	N	0.04880	-0.145	0.80722	P	0.0	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	0.11421	-1.0588	8	0.45353	T	0.12	.	1.1031	0.01688	0.1589:0.3274:0.1622:0.3515	rs34024143;rs36218241	7;7;7;7	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	W	7	ENSP00000360997:R7W;ENSP00000360984:R7W;ENSP00000347927:R7W;ENSP00000348997:R7W;ENSP00000360979:R7W	ENSP00000347927:R7W	R	+	1	2	ADAMTS13	135277403	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.569000	0.02142	-1.237000	0.02539	-1.311000	0.01308	CGG	C|0.905;T|0.095	0.095	strong		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		T	136287582	C	T	136287582	3	4	3	1	0	0	0	0	1	0	0	0	258	643	23	1	21	1	ADAMTS13	9	136287582	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	18489985	136287582	4925849	231	670										
SARDH	1757	hgsc.bcm.edu	37	chr9	136577806	136577806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atccagtgggccagctcctgCccacagccaccacccagcat	8	19	0	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:136577806C>T	ENST00000371872.4	-	10	1520	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	SARDH_ENST00000422262.2_Silent_p.G253G|SARDH_ENST00000439388.1_Silent_p.G421G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	421					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCAGCTCCTGCCCACAGCCAC	0.637																																					p.G421G		Atlas-SNP	.											.	SARDH	112	.	0			c.G1263A						PASS	.						55	56	55					9																	136577806		2203	4300	6503	SO:0001819	synonymous_variant	1757	exon10			CTCCTGCCCACAG		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1263G>A	9.37:g.136577806C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	24	11	0.458333	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			.	.	none		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136577806	C	T	136577806	2	4	3	1	0	0	0	0	0	0	0	1	13841	726	26	2		2	SARDH	9	136577806	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	290224	136577806	4635625	232	671										
GLT6D1	360203	hgsc.bcm.edu	37	chr9	138516128	138516128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgtccaaacgggatgcaagCtgctgaggtcggcctcctct	12	13	1	1	rs61739510	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr9:138516128C>T	ENST00000371763.1	-	5	899	c.646G>A	c.(646-648)Gct>Act	p.A216T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	216					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGGATGCAAGCTGCTGAGGTC	0.517													C|||	221	0.0441294	0.0038	0.0706	5008	,	,		19738	0.0675		0.0477	False		,,,				2504	0.0521				p.A216T		Atlas-SNP	.											.	GLT6D1	56	.	0			c.G646A						PASS	.	C	THR/ALA	44,3796		0,44,1876	98	98	98		646	3.5	0	9	dbSNP_129	98	558,7702		22,514,3594	yes	missense	GLT6D1	NM_182974.2	58	22,558,5470	TT,TC,CC		6.7554,1.1458,4.9752	probably-damaging	216/277	138516128	602,11498	1920	4130	6050	SO:0001583	missense	360203	exon5			TGCAAGCTGCTGA	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.646G>A	9.37:g.138516128C>T	ENSP00000360829:p.Ala216Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_182974		Missense_Mutation	SNP	ENST00000371763.1	37	CCDS43900.1	112	0.05128205128205128	4	0.008130081300813009	25	0.06906077348066299	39	0.06818181818181818	44	0.05804749340369393	C	21.7	4.192627	0.78902	0.011458	0.067554	ENSG00000204007	ENST00000371763	T	0.02140	4.43	3.49	3.49	0.39957	.	0.000000	0.53938	D	0.000045	T	0.01061	0.0035	M	0.90922	3.16	0.43874	D	0.996482	D	0.89917	1.0	D	0.97110	1.0	T	0.00202	-1.1925	10	0.87932	D	0	-40.4359	13.325	0.60454	0.0:1.0:0.0:0.0	rs61739510	216	Q7Z4J2	GL6D1_HUMAN	T	216	ENSP00000360829:A216T	ENSP00000360829:A216T	A	-	1	0	GLT6D1	137655949	0.995000	0.38212	0.048000	0.18961	0.008000	0.06430	4.249000	0.58766	2.268000	0.75426	0.655000	0.94253	GCT	C|0.947;T|0.053	0.053	strong		0.517	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		T	138516128	C	T	138516128	3	4	3	1	0	0	0	0	1	0	0	0	6468	797	28	2	188	2	GLT6D1	9	138516128	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1938322	138516128	2697303	233	672										
ITIH5	80760	hgsc.bcm.edu	37	chr10	7605146	7605146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgtcaatcagtttggcggcaTtgttcctggcaaaccagcag	11	11	2	0	rs137874246	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:7605146T>C	ENST00000256861.6	-	14	2807	c.2729A>G	c.(2728-2730)aAt>aGt	p.N910S	ITIH5_ENST00000446830.2_Missense_Mutation_p.N692S|ITIH5_ENST00000298441.6_Missense_Mutation_p.N696S|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	910					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTGGCGGCATTGTTCCTGGC	0.532													T|||	46	0.0091853	0.0008	0.0591	5008	,	,		20378	0.0		0.0	False		,,,				2504	0.0041				p.N910S		Atlas-SNP	.											.	ITIH5	343	.	0			c.A2729G						PASS	.	T	SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	195	156	169		2729,2087	1.9	0.9	10	dbSNP_134	169	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense	ITIH5	NM_030569.6,NM_032817.5	46,46	0,7,6496	CC,CT,TT		0.0581,0.0454,0.0538	probably-damaging,probably-damaging	910/943,696/729	7605146	7,12999	2203	4300	6503	SO:0001583	missense	80760	exon14			GCGGCATTGTTCC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2729A>G	10.37:g.7605146T>C	ENSP00000256861:p.Asn910Ser	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		26	0.011904761904761904	1	0.0020325203252032522	25	0.06906077348066299	0	0.0	0	0.0	T	17.91	3.505233	0.64410	4.54E-4	5.81E-4	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02498	4.45;4.27;4.29	5.62	1.91	0.25777	.	0.364959	0.32488	N	0.006028	T	0.00695	0.0023	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04216	-1.0968	9	0.45353	T	0.12	-18.2376	6.6603	0.23011	0.0:0.1366:0.1298:0.7337	.	910;696	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	S	910;696;692	ENSP00000256861:N910S;ENSP00000298441:N696S;ENSP00000387969:N692S	ENSP00000256861:N910S	N	-	2	0	ITIH5	7645152	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	3.814000	0.55643	0.077000	0.16863	-0.297000	0.09499	AAT	T|0.996;C|0.004	0.004	strong		0.532	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7605146	T	C	7605146	3	2	3	1	0	0	0	0	1	0	0	0	7907	1493	52	2	145	2	ITIH5	10	7605146	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10		7605146	127929601	234	673										
OPTN	10133	hgsc.bcm.edu	37	chr10	13152400	13152400	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agaagcaaaagagcgtctaaTggccttgagtcatgagaatg	12	6	2	4	rs11258194	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:13152400T>A	ENST00000378748.3	+	5	655	c.293T>A	c.(292-294)aTg>aAg	p.M98K	OPTN_ENST00000378764.2_Missense_Mutation_p.M98K|OPTN_ENST00000378757.2_Missense_Mutation_p.M98K|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000263036.5_Missense_Mutation_p.M98K|OPTN_ENST00000378752.3_Missense_Mutation_p.M98K|OPTN_ENST00000378747.3_Missense_Mutation_p.M98K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	98	Interaction with Rab8.		M -> K (may modify intraocular pressure and increase risk of GLC1E and NPG, induces TFRC degradation leading to autophagic death in retinal ganglion cells; may be a common polymorphism; dbSNP:rs11258194). {ECO:0000269|PubMed:11834836, ECO:0000269|PubMed:14627677, ECO:0000269|PubMed:15498064, ECO:0000269|PubMed:15557444}.		cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCGTCTAATGGCCTTGAGT	0.433													T|||	394	0.0786741	0.1301	0.0259	5008	,	,		22408	0.1359		0.0308	False		,,,				2504	0.0368				p.M98K		Atlas-SNP	.											OPTN,NS,carcinoma,-1,1	OPTN	57	1	0			c.T293A	GRCh37	CM020163	OPTN	M	rs11258194	scavenged	.	T	LYS/MET,LYS/MET,LYS/MET,LYS/MET	518,3888	236.8+/-248.8	27,464,1712	105	117	113	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	293,293,293,293	3.6	0.4	10	dbSNP_120	113	277,8323	103.8+/-164.8	6,265,4029	yes	missense,missense,missense,missense	OPTN	NM_001008211.1,NM_001008212.1,NM_001008213.1,NM_021980.4	95,95,95,95	33,729,5741	AA,AT,TT		3.2209,11.7567,6.1126	benign,benign,benign,benign	98/578,98/578,98/578,98/578	13152400	795,12211	2203	4300	6503	SO:0001583	missense	10133	exon4			GTCTAATGGCCTT	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.293T>A	10.37:g.13152400T>A	ENSP00000368022:p.Met98Lys	Somatic	248	2	0.00806452		WXS	Illumina HiSeq	Phase_I	145	4	0.0275862	NM_001008212	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	148	0.06776556776556776	54	0.10975609756097561	11	0.03038674033149171	63	0.11013986013986014	20	0.026385224274406333	T	0.187	-1.056960	0.01965	0.117567	0.032209	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.98	3.62	0.41486	NF-kappa-B essential modulator NEMO, N-terminal (1);	0.586858	0.21037	N	0.081226	T	0.00875	0.0029	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.10753	-1.0616	9	0.06099	T	0.92	-3.4751	4.5064	0.11891	0.1498:0.1647:0.0:0.6855	rs11258194;rs45467004;rs52829303	98;98	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	K	98;98;98;98;98;41;98	ENSP00000263036:M98K;ENSP00000368040:M98K;ENSP00000368032:M98K;ENSP00000368027:M98K;ENSP00000368022:M98K;ENSP00000414747:M41K;ENSP00000368021:M98K	ENSP00000263036:M98K	M	+	2	0	OPTN	13192406	0.000000	0.05858	0.405000	0.26409	0.498000	0.33706	0.084000	0.14891	0.492000	0.27815	0.533000	0.62120	ATG	T|0.937;A|0.063	0.063	strong		0.433	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		A	13152400	T	A	13152400	3	1	3	1	0	0	0	0	1	0	0	0	10889	1464	51	5	299	5	OPTN	10	13152400	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	5547254	13152400	122382347	235	674										
MYO3A	53904	hgsc.bcm.edu	37	chr10	26462790	26462790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aataatgtgtatgaggaagaGgttaagcaagaattctacct	10	4	1	3	rs3740232	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:26462790G>A	ENST00000265944.5	+	30	3763	c.3597G>A	c.(3595-3597)gaG>gaA	p.E1199E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1199					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1199E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGAGGAAGAGGTTAAGCAAG	0.418													G|||	1648	0.329073	0.2262	0.317	5008	,	,		19882	0.3532		0.3429	False		,,,				2504	0.4376				p.E1199E		Atlas-SNP	.											MYO3A,colon,carcinoma,0,2	MYO3A	371	2	1	Substitution - coding silent(1)	stomach(1)	c.G3597A						scavenged	.	G		1105,3301	396.7+/-330.2	139,827,1237	87	86	86		3597	0	0	10	dbSNP_107	86	2884,5716	452.0+/-362.8	486,1912,1902	no	coding-synonymous	MYO3A	NM_017433.4		625,2739,3139	AA,AG,GG		33.5349,25.0794,30.6705		1199/1617	26462790	3989,9017	2203	4300	6503	SO:0001819	synonymous_variant	53904	exon30			GGAAGAGGTTAAG	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3597G>A	10.37:g.26462790G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																			G|0.681;A|0.319	0.319	strong		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26462790	G	A	26462790	2	1	3	1	0	0	0	0	0	0	0	1	10076	991	35	2		2	MYO3A	10	26462790	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	13310390	26462790	109071957	236	675										
SVIL	6840	hgsc.bcm.edu	37	chr10	29840164	29840164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgcttttctagagaagaatcAgaagtttcctcctcttcatt	6	9	4	3	rs3740002	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:29840164A>G	ENST00000355867.4	-	6	941	c.189T>C	c.(187-189)tcT>tcC	p.S63S	SVIL_ENST00000375398.2_Silent_p.S63S|SVIL_ENST00000375400.3_Silent_p.S63S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	63	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAGAAGAATCAGAAGTTTCCT	0.453													A|||	1277	0.254992	0.2337	0.245	5008	,	,		21044	0.3462		0.2376	False		,,,				2504	0.2147				p.S63S		Atlas-SNP	.											.	SVIL	226	.	0			c.T189C						PASS	.	A	,	1160,3246	398.8+/-331.0	153,854,1196	55	46	49		189,189	-4.9	0.4	10	dbSNP_107	49	2233,6367	362.0+/-332.6	287,1659,2354	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	440,2513,3550	GG,GA,AA		25.9651,26.3277,26.088	,	63/1789,63/2215	29840164	3393,9613	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon8			AGAATCAGAAGTT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.189T>C	10.37:g.29840164A>G		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	4	0.0952381	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			A|0.744;G|0.256	0.256	strong		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29840164	A	G	29840164	2	3	3	1	0	0	0	0	0	0	0	1	15418	175	7	3		3	SVIL	10	29840164	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3377374	29840164	105694583	237	676										
ZNF248	57209	hgsc.bcm.edu	37	chr10	38120720	38120720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gttttcccacattcattacaCttatatggtttctccccagt	4	12	2	0	rs1779132	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:38120720C>T	ENST00000395867.3	-	6	2113	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Silent_p.K521K	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	521					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)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTCATTACACTTATATGGTT	0.413													C|||	158	0.0315495	0.0015	0.0648	5008	,	,		20360	0.0		0.1024	False		,,,				2504	0.0082				p.K521K		Atlas-SNP	.											.	ZNF248	61	.	0			c.G1563A						PASS	.	C		79,4327	69.2+/-107.0	1,77,2125	115	107	110		1563	-0.5	1	10	dbSNP_89	110	756,7842	181.0+/-229.8	32,692,3575	no	coding-synonymous	ZNF248	NM_021045.1		33,769,5700	TT,TC,CC		8.7927,1.793,6.4211		521/580	38120720	835,12169	2203	4299	6502	SO:0001819	synonymous_variant	57209	exon6			ATTACACTTATAT	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1563G>A	10.37:g.38120720C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_001267597	Q8NDV8|Q9UMP3	Silent	SNP	ENST00000395867.3	37	CCDS7194.1																																																																																			C|0.937;T|0.063	0.063	strong		0.413	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		T	38120720	C	T	38120720	2	4	3	1	0	0	0	0	0	0	0	1	17790	564	20	2		2	ZNF248	10	38120720	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	8280556	38120720	97414027	238	677										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	5	0	2	rs76607193	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X		Atlas-SNP	.											CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	67	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T						scavenged	.						191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	131	5	0.0381679	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	C|0.997;T|0.003	0.003	strong		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	3	1	0	0	0	0	0	1	0	0	3939	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	5538652	43659372	91875375	239	678										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	15	3	2	4	rs79064394		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		Atlas-SNP	.											CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	67	5	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						scavenged	.						223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	Somatic	162	1	0.00617284		WXS	Illumina HiSeq	Phase_I	126	6	0.047619	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.	.	weak		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659419	G	T	43659419	3	4	3	1	0	0	0	0	1	0	0	0	3939	1281	45	4	1100	4	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	47	43659419	91875328	240	679										
ZNF485	220992	hgsc.bcm.edu	37	chr10	44112245	44112245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgactgtgggaaagccttcGctcagaatgcagctcttact	10	10	2	2	rs12354886	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:44112245G>A	ENST00000361807.3	+	5	948	c.754G>A	c.(754-756)Gct>Act	p.A252T	ZNF485_ENST00000374435.3_Missense_Mutation_p.A252T|ZNF485_ENST00000374437.2_Missense_Mutation_p.A161T	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	252			A -> T (in dbSNP:rs12354886).		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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAGCCTTCGCTCAGAATGC	0.393													G|||	926	0.184904	0.2943	0.2133	5008	,	,		21170	0.003		0.2177	False		,,,				2504	0.1708				p.A252T		Atlas-SNP	.											.	ZNF485	102	.	0			c.G754A						PASS	.	G	THR/ALA	1183,3223	413.7+/-336.6	169,845,1189	70	74	73		754	0.5	0	10	dbSNP_120	73	1995,6605	348.3+/-327.0	222,1551,2527	yes	missense	ZNF485	NM_145312.3	58	391,2396,3716	AA,AG,GG		23.1977,26.8498,24.4349	benign	252/442	44112245	3178,9828	2203	4300	6503	SO:0001583	missense	220992	exon5			GCCTTCGCTCAGA	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.754G>A	10.37:g.44112245G>A	ENSP00000354694:p.Ala252Thr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	105	5	0.047619	NM_145312	B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	CCDS7205.2	366	0.16758241758241757	136	0.2764227642276423	77	0.212707182320442	0	0.0	153	0.20184696569920843	G	0.238	-1.015652	0.02078	0.268498	0.231977	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07567	3.18;3.18;3.18	2.46	0.496	0.16896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.04655	-0.195	0.80722	P	0.0	B	0.06786	0.001	B	0.13407	0.009	T	0.47699	-0.9097	8	0.10902	T	0.67	.	2.3447	0.04269	0.2826:0.0:0.4752:0.2422	rs12354886;rs52806454;rs59867017;rs12354886	252	Q8NCK3	ZN485_HUMAN	T	252;161;252	ENSP00000354694:A252T;ENSP00000363560:A161T;ENSP00000363558:A252T	ENSP00000354694:A252T	A	+	1	0	ZNF485	43432251	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.058000	0.11750	0.119000	0.18210	-0.521000	0.04368	GCT	G|0.786;A|0.214	0.214	strong		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		A	44112245	G	A	44112245	3	1	3	1	0	0	0	0	1	0	0	0	17935	1087	38	1	768	1	ZNF485	10	44112245	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	452826	44112245	91422502	241	680										
PPYR1	5540	hgsc.bcm.edu	37	chr10	47087299	47087299	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	attgcctgtgtcctctccctGcccttcctggccaacagcat	7	17	1	0	rs140965359	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:47087299G>C	ENST00000395716.1	+	2	601	c.516G>C	c.(514-516)ctG>ctC	p.L172L	NPY4R_ENST00000374312.1_Silent_p.L172L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	172					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TCCTCTCCCTGCCCTTCCTGG	0.572													G|||	7	0.00139776	0.0	0.0029	5008	,	,		45561	0.0		0.004	False		,,,				2504	0.001				p.L172L		Atlas-SNP	.											.	PPYR1	54	.	0			c.G516C						PASS	.	G		1,4405		0,1,2202	197	156	170		516	4	1	10	dbSNP_134	170	12,8588	7.1+/-27.0	0,12,4288	no	coding-synonymous	PPYR1	NM_005972.4		0,13,6490	CC,CG,GG		0.1395,0.0227,0.1		172/376	47087299	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	5540	exon3			CTCCCTGCCCTTC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.516G>C	10.37:g.47087299G>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	81	7	0.0864198	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	CCDS31193.1																																																																																			G|0.998;C|0.002	0.002	strong		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			C	47087299	G	C	47087299	2	2	3	1	0	0	0	0	0	0	0	1	12416	1306	46	4		4	PPYR1	10	47087299	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2975054	47087299	88447448	242	681										
CCDC6	8030	hgsc.bcm.edu	37	chr10	61552774	61552774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgggtggcggaggtggaggCggaggtggctggactggggt	25	4	0	0	rs1053265	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:61552774C>T	ENST00000263102.6	-	9	1557	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	442	Poly-Pro.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GAGGTGGAGGCGGAGGTGGCT	0.632			T	RET	NSCLC								C|||	3063	0.611621	0.3381	0.7795	5008	,	,		15566	0.6647		0.7505	False		,,,				2504	0.6646				p.P442P		Atlas-SNP	.		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	CCDC6,caecum,carcinoma,0,2	CCDC6	44	2	0			c.G1326A						scavenged	.	C		1872,2534	541.4+/-375.8	403,1066,734	161	151	154		1326	-11.2	0	10	dbSNP_86	154	6615,1985	723.1+/-406.4	2551,1513,236	no	coding-synonymous	CCDC6	NM_005436.4		2954,2579,970	TT,TC,CC		23.0814,42.4875,34.7455		442/475	61552774	8487,4519	2203	4300	6503	SO:0001819	synonymous_variant	8030	exon9			TGGAGGCGGAGGT	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1326G>A	10.37:g.61552774C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	75	3	0.04	NM_005436	Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	CCDS7257.1																																																																																			C|0.350;T|0.650	0.650	strong		0.632	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		T	61552774	C	T	61552774	2	4	3	1	0	0	0	0	0	0	0	1	2830	755	27	1		1	CCDC6	10	61552774	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	14465475	61552774	73981973	243	682										
CAMK2G	818	hgsc.bcm.edu	37	chr10	75632760	75632760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cactcaccccgggcagacaaCttcttggtattgatgatttt	8	11	2	3	rs2675671	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:75632760C>T	ENST00000351293.3	-	2	204	c.147G>A	c.(145-147)aaG>aaA	p.K49K	CAMK2G_ENST00000372765.1_Silent_p.K49K|CAMK2G_ENST00000423381.1_Silent_p.K49K|CAMK2G_ENST00000305762.7_Silent_p.K49K|CAMK2G_ENST00000444854.2_Silent_p.K49K|CAMK2G_ENST00000394762.2_Silent_p.K49K|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.K49K|CAMK2G_ENST00000322635.3_Silent_p.K49K	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GGGCAGACAACTTCTTGGTAT	0.547													C|||	1424	0.284345	0.1936	0.3386	5008	,	,		18209	0.1121		0.5785	False		,,,				2504	0.2434				p.K49K		Atlas-SNP	.											CAMK2G_ENST00000322680,colon,carcinoma,0,2	CAMK2G	79	2	0			c.G147A						scavenged	.	C	,,,,,	1173,3233	411.5+/-335.8	154,865,1184	261	238	246		147,147,147,147,147,147	4.1	1	10	dbSNP_100	246	4866,3734	617.6+/-396.7	1356,2154,790	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMK2G	NM_001204492.1,NM_001222.3,NM_172169.2,NM_172170.4,NM_172171.2,NM_172173.2	,,,,,	1510,3019,1974	TT,TC,CC		43.4186,26.6228,46.4324	,,,,,	49/540,49/496,49/528,49/519,49/557,49/505	75632760	6039,6967	2203	4300	6503	SO:0001819	synonymous_variant	818	exon2			AGACAACTTCTTG	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.147G>A	10.37:g.75632760C>T		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	128	6	0.046875	NM_172170	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	CCDS7336.1																																																																																			C|0.601;T|0.399	0.399	strong		0.547	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		T	75632760	C	T	75632760	2	4	3	1	0	0	0	0	0	0	0	1	2602	564	20	2		2	CAMK2G	10	75632760	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	14079986	75632760	59901987	244	683										
ZNF503	84858	hgsc.bcm.edu	37	chr10	77161102	77161102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaggcagggtctgcaccgcCgcctccgcctccgccgccgc	12	22	1	0	rs533859340|rs374168185	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:77161102C>T	ENST00000372524.4	-	1	562	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.G26S|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	26	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TCTGCAccgccgcctccgcct	0.711																																					p.G26S		Atlas-SNP	.											.	ZNF503	25	.	0			c.G76A						PASS	.						3	4	4					10																	77161102		1704	3476	5180	SO:0001583	missense	84858	exon1			CACCGCCGCCTCC	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.76G>A	10.37:g.77161102C>T	ENSP00000361602:p.Gly26Ser	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	18	9	0.5	NM_032772	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.061|0.061	-1.224407|-1.224407	0.01530|0.01530	.|.	.|.	ENSG00000165655|ENSG00000233745	ENST00000372524;ENST00000535216;ENST00000372516|ENST00000438638	D;D|.	0.87334|.	-2.24;-2.24|.	1.32|1.32	-2.14|-2.14	0.07123|0.07123	.|.	1.267280|.	0.06383|.	N|.	0.715644|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.25779|0.25779	-1.0122|-1.0122	9|6	.|0.87932	.|D	.|0	-4.8545|-4.8545	3.8606|3.8606	0.08994|0.08994	0.0:0.3276:0.2147:0.4577|0.0:0.3276:0.2147:0.4577	.|.	26|.	Q96F45|.	ZN503_HUMAN|.	S|L	26|115	ENSP00000361602:G26S;ENSP00000438988:G26S|.	.|ENSP00000391835:P115L	G|P	-|+	1|2	0|0	ZNF503|AC010997.1	76831108|76831108	0.437000|0.437000	0.25593|0.25593	0.723000|0.723000	0.30687|0.30687	0.115000|0.115000	0.19883|0.19883	-0.115000|-0.115000	0.10741|0.10741	-0.181000|-0.181000	0.10619|0.10619	0.000000|0.000000	0.15137|0.15137	GGC|CCG	.	.	none		0.711	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77161102	C	T	77161102	3	4	3	1	0	0	0	0	1	0	0	0	17948	652	23	1	1872	1	ZNF503	10	77161102	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1528342	77161102	58373645	245	684										
DLG5	9231	hgsc.bcm.edu	37	chr10	79565519	79565520	+	Frame_Shift_Ins	INS	-	-	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgtgcttgtgtttcctccgINSaaaaaaggaccggcgtgcag							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:79565519_79565520insA	ENST00000372391.2	-	27	5072_5073	c.5067_5068insT	c.(5065-5070)tttcggfs	p.R1690fs	DLG5_ENST00000372388.2_Frame_Shift_Ins_p.R1350fs|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1690					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTTTCCTCCGAAAAAAGGACC	0.535																																					p.R1690fs		Pindel,Atlas-Indel	.											.	DLG5	154	.	0			c.5068_5069insT						PASS	.																																			SO:0001589	frameshift_variant	9231	exon27			.	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5068dupT	10.37:g.79565525_79565525dupA	ENSP00000361467:p.Arg1690fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	17	17	1	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Ins	INS	ENST00000372391.2	37	CCDS7353.2																																																																																			.	.	none		0.535	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79565520	-	A	79565519	7	5	3	1	0	1	1	0	0	0	0	0	4558	1057	37	0	715	0	DLG5	10	79565519	Frame_Shift_Ins	INS	-	TCGA-FA-A4XK-01A-11D-A31X-10	2404417	79565519	55969228	246	685										
IFIT2	3433	hgsc.bcm.edu	37	chr10	91066075	91066075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatttatgtagacaaggtgaAacatgtctgtgagaagtttt	11	3	1	3	rs2070845	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:91066075A>G	ENST00000371826.3	+	2	531	c.362A>G	c.(361-363)aAa>aGa	p.K121R	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	121			K -> R (in dbSNP:rs2070845).		apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GACAAGGTGAAACATGTCTGT	0.468													A|||	980	0.195687	0.27	0.1945	5008	,	,		20614	0.127		0.2485	False		,,,				2504	0.1125				p.K121R		Atlas-SNP	.											.	IFIT2	39	.	0			c.A362G						PASS	.	A	ARG/LYS	1062,3170		134,794,1188	74	78	77		362	2.2	0.2	10	dbSNP_96	77	2063,6471		249,1565,2453	yes	missense	IFIT2	NM_001547.4	26	383,2359,3641	GG,GA,AA		24.1739,25.0945,24.4791	benign	121/473	91066075	3125,9641	2116	4267	6383	SO:0001583	missense	3433	exon2			AGGTGAAACATGT	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.362A>G	10.37:g.91066075A>G	ENSP00000360891:p.Lys121Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	453	0.20741758241758243	119	0.241869918699187	74	0.20441988950276244	80	0.13986013986013987	180	0.23746701846965698	A	2.500	-0.315343	0.05422	0.250945	0.241739	ENSG00000119922	ENST00000371826	T	0.73575	-0.76	4.58	2.22	0.28083	.	0.395490	0.24433	N	0.038566	T	0.00012	0.0000	N	0.12961	0.28	0.39373	P	0.03388899999999995	B	0.18461	0.028	B	0.13407	0.009	T	0.05099	-1.0906	9	0.15066	T	0.55	-9.6022	8.4323	0.32766	0.8333:0.0:0.1667:0.0	rs2070845;rs17468767;rs17846023;rs17859007;rs52806847;rs58270854;rs2070845	121	P09913	IFIT2_HUMAN	R	121	ENSP00000360891:K121R	ENSP00000360891:K121R	K	+	2	0	IFIT2	91056055	0.830000	0.29337	0.152000	0.22495	0.007000	0.05969	2.051000	0.41307	0.495000	0.27882	0.533000	0.62120	AAA	A|0.781;G|0.219	0.219	strong		0.468	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		G	91066075	A	G	91066075	3	3	3	1	0	0	0	0	1	0	0	0	7523	14	1	2	368	2	IFIT2	10	91066075	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	11500556	91066075	44468672	247	686										
CYP26C1	340665	hgsc.bcm.edu	37	chr10	94824263	94824263	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	attcacagtgcaagggagctGggccatgagccctccatgca	12	12	1	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:94824263G>T	ENST00000285949.5	+	4	831	c.831G>T	c.(829-831)ctG>ctT	p.L277L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	277					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CAAGGGAGCTGGGCCATGAGC	0.587																																					p.L277L		Atlas-SNP	.											.	CYP26C1	25	.	0			c.G831T						PASS	.						96	90	92					10																	94824263		2203	4300	6503	SO:0001819	synonymous_variant	340665	exon4			GGAGCTGGGCCAT		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.831G>T	10.37:g.94824263G>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	97	5	0.0515464	NM_183374	Q5VXH6	Silent	SNP	ENST00000285949.5	37	CCDS7425.1																																																																																			.	.	none		0.587	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		T	94824263	G	T	94824263	2	4	3	1	0	0	0	0	0	0	0	1	4157	1335	47	4		4	CYP26C1	10	94824263	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3758188	94824263	40710484	248	687										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124352028	124352028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtgcgctgctcaggacacgAgtcctacctgtggagctgcc	13	13	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:124352028A>G	ENST00000338354.3	+	20	2523	c.2417A>G	c.(2416-2418)gAg>gGg	p.E806G	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.E796G|DMBT1_ENST00000368955.3_Missense_Mutation_p.E796G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E806G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	806	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGGACACGAGTCCTACCTG	0.617																																					p.E806G	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											.	DMBT1	677	.	0			c.A2417G						PASS	.						144	104	117					10																	124352028		2018	4109	6127	SO:0001583	missense	1755	exon20			GACACGAGTCCTA		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2417A>G	10.37:g.124352028A>G	ENSP00000342210:p.Glu806Gly	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	15	14	0.933333	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	A	10.04	1.242226	0.22796	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.75	2.6	0.31112	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.84365	0.5456	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.998	D	0.84836	0.0805	9	0.87932	D	0	.	8.8898	0.35425	0.9078:0.0:0.0922:0.0	.	567;806;796;806	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	G	806;806;806;806;806;806;796;806;796	ENSP00000342210:E806G;ENSP00000343175:E796G;ENSP00000357905:E806G;ENSP00000357951:E796G	ENSP00000342210:E806G	E	+	2	0	DMBT1	124342018	1.000000	0.71417	0.022000	0.16811	0.047000	0.14425	6.948000	0.75965	0.438000	0.26450	0.460000	0.39030	GAG	.	.	none		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124352028	A	G	124352028	3	3	3	1	0	0	0	0	1	0	0	0	4577	304	11	3	2495	3	DMBT1	10	124352028	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	29527765	124352028	11182719	249	688										
CPXM2	119587	hgsc.bcm.edu	37	chr10	125557598	125557598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccaccatggggacgggtagCtcattgagaacagggatctc	14	10	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:125557598C>T	ENST00000241305.3	-	6	937	c.783G>A	c.(781-783)gaG>gaA	p.E261E	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	261	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGACGGGTAGCTCATTGAGAA	0.473																																					p.E261E		Atlas-SNP	.											.	CPXM2	120	.	0			c.G783A						PASS	.						130	111	118					10																	125557598		2203	4300	6503	SO:0001819	synonymous_variant	119587	exon6			GGGTAGCTCATTG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.783G>A	10.37:g.125557598C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	29	0.29	NM_198148	B4E3Q2	Silent	SNP	ENST00000241305.3	37	CCDS7637.1																																																																																			.	.	none		0.473	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125557598	C	T	125557598	2	4	3	1	0	0	0	0	0	0	0	1	3838	796	28	2		2	CPXM2	10	125557598	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1205570	125557598	9977149	250	689										
C10orf90	118611	hgsc.bcm.edu	37	chr10	128193433	128193433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcaggtcctcgctcatctgaCggtgccgggattcctaatct	10	13	4	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:128193433C>T	ENST00000284694.7	-	3	456	c.336G>A	c.(334-336)ccG>ccA	p.P112P	C10orf90_ENST00000454341.1_Silent_p.P112P|C10orf90_ENST00000356858.3_Silent_p.P65P|C10orf90_ENST00000392694.1_Silent_p.P65P|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Silent_p.P209P	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	112					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCTCATCTGACGGTGCCGGGA	0.597											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P112P		Atlas-SNP	.											C10orf90,NS,carcinoma,-1,1	C10orf90	121	1	0			c.G336A						PASS	.						81	65	70					10																	128193433		2203	4300	6503	SO:0001819	synonymous_variant	118611	exon3			ATCTGACGGTGCC	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.336G>A	10.37:g.128193433C>T		Somatic	115	0	0	1563	WXS	Illumina HiSeq	Phase_I	98	39	0.397959	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1																																																																																			.	.	none		0.597	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		T	128193433	C	T	128193433	2	4	3	1	0	0	0	0	0	0	0	1	1623	523	19	1		1	C10orf90	10	128193433	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2635835	128193433	7341314	251	690										
MKI67	4288	hgsc.bcm.edu	37	chr10	129903802	129903802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtggtggagatttgcaggctAttttggtagttttgtcatca	13	4	2	1	rs11016073	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr10:129903802A>G	ENST00000368654.3	-	13	6677	c.6302T>C	c.(6301-6303)aTa>aCa	p.I2101T	MKI67_ENST00000368653.3_Missense_Mutation_p.I1741T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2101	16 X 122 AA approximate repeats.		I -> T (in dbSNP:rs11016073).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGCAGGCTATTTTGGTAGT	0.493													A|||	766	0.152955	0.0166	0.1542	5008	,	,		20790	0.2262		0.2276	False		,,,				2504	0.184				p.I2101T		Atlas-SNP	.											MKI67,NS,carcinoma,+1,1	MKI67	363	1	0			c.T6302C						scavenged	.	A	THR/ILE,THR/ILE	242,4164	141.9+/-177.2	6,230,1967	323	316	318		5222,6302	-8.9	0	10	dbSNP_120	318	1874,6726	334.2+/-320.9	205,1464,2631	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	89,89	211,1694,4598	GG,GA,AA		21.7907,5.4925,16.2694	benign,benign	1741/2897,2101/3257	129903802	2116,10890	2203	4300	6503	SO:0001583	missense	4288	exon13			CAGGCTATTTTGG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6302T>C	10.37:g.129903802A>G	ENSP00000357643:p.Ile2101Thr	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	192	4	0.0208333	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	364	0.16666666666666666	11	0.022357723577235773	59	0.16298342541436464	116	0.20279720279720279	178	0.23482849604221637	A	14.06	2.423156	0.43020	0.054925	0.217907	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03468	3.92;3.92	4.43	-8.87	0.00792	.	7.783340	0.00166	N	0.000004	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B;B;B	0.15473	0.01;0.01;0.013	B;B;B	0.15870	0.008;0.008;0.014	T	0.41305	-0.9516	9	0.14252	T	0.57	.	7.1603	0.25661	0.1776:0.1033:0.5803:0.1388	rs11016073;rs52835413;rs59373454;rs11016073	2100;1741;2101	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2101;1741;2100	ENSP00000357643:I2101T;ENSP00000357642:I1741T	ENSP00000357642:I1741T	I	-	2	0	MKI67	129793792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.759000	0.04761	-2.820000	0.00344	-0.912000	0.02778	ATA	A|0.842;G|0.158	0.158	strong		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129903802	A	G	129903802	3	3	3	1	0	0	0	0	1	0	0	0	9598	449	16	2	3480	2	MKI67	10	129903802	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1710369	129903802	5630945	252	691										
B4GALNT4	338707	hgsc.bcm.edu	37	chr11	372700	372700	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gacatgctgtttcctgggggGgctgggaggctgccactgaa	17	9	0	1	rs35475866	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:372700G>C	ENST00000329962.6	+	3	294	c.294G>C	c.(292-294)ggG>ggC	p.G98G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	98					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCTGGGGGGGCTGGGAGGC	0.647													.|||	1656	0.330671	0.3253	0.2997	5008	,	,		10061	0.3839		0.2952	False		,,,				2504	0.3415				p.G98G		Atlas-SNP	.											B4GALNT4,rectum,carcinoma,0,1	B4GALNT4	83	1	0			c.G294C						PASS	.	G		1430,2946		245,940,1003	18	21	20		294	-1.3	0	11	dbSNP_126	20	2375,6187		331,1713,2237	no	coding-synonymous	B4GALNT4	NM_178537.4		576,2653,3240	CC,CG,GG		27.7388,32.6782,29.4095		98/1040	372700	3805,9133	2188	4281	6469	SO:0001819	synonymous_variant	338707	exon3			TGGGGGGGCTGGG	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.294G>C	11.37:g.372700G>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	41	5	0.121951	NM_178537	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																			G|0.714;C|0.286	0.286	strong		0.647	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		C	372700	G	C	372700	2	2	3	1	0	0	0	0	0	0	0	1	1269	1219	43	4		4	B4GALNT4	11	372700	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		372700	134633816	253	692										
LRDD	55367	hgsc.bcm.edu	37	chr11	804212	804212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aattccacctgcagcagctgCagaggctgctggacacacag	11	13	0	1	rs7104785	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:804212C>A	ENST00000347755.5	-	2	318	c.177G>T	c.(175-177)ctG>ctT	p.L59L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L59L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCAGCAGCTGCAGAGGCTGCT	0.672													A|||	1757	0.350839	0.292	0.6354	5008	,	,		16607	0.2728		0.493	False		,,,				2504	0.1626				p.L59L		Atlas-SNP	.											.	PIDD	76	.	0			c.G177T						PASS	.	A	,	1396,3010	648.5+/-398.7	216,964,1023	29	29	29		177,177	-7.2	0	11	dbSNP_116	29	4402,4196	537.7+/-383.3	1138,2126,1035	no	coding-synonymous,coding-synonymous	PIDD	NM_145886.3,NM_145887.3	,	1354,3090,2058	AA,AC,CC		48.802,31.6841,44.5863	,	59/911,59/894	804212	5798,7206	2203	4299	6502	SO:0001819	synonymous_variant	55367	exon2			CAGCTGCAGAGGC																												ENST00000347755.5:c.177G>T	11.37:g.804212C>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	105	6	0.0571429	NM_145887		Silent	SNP	ENST00000347755.5	37	CCDS7716.1																																																																																			C|0.567;A|0.433	0.433	strong		0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			A	804212	C	A	804212	2	1	3	1	0	0	0	0	0	0	0	1	8936	697	25	4		4	LRDD	11	804212	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	431512	804212	134202304	254	693										
OR51E1	143503	hgsc.bcm.edu	37	chr11	4674575	4674575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agcaagcggcgtgactctccGctgcccgtcatcttggccaa	11	15	3	1	rs3817098	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:4674575G>A	ENST00000530215.1	+	2	190	c.149G>A	c.(148-150)cGc>cAc	p.R50H	OR51E1_ENST00000396952.5_Silent_p.P273P			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGACTCTCCGCTGCCCGTCA	0.493													C|||	1470	0.29353	0.2012	0.4179	5008	,	,		19913	0.0556		0.499	False		,,,				2504	0.364				p.P273P		Atlas-SNP	.											.	OR51E1	67	.	0			c.G819A						PASS	.	C		1066,3336		145,776,1280	176	166	170		819	-0.3	1	11	dbSNP_107	170	4662,3934		1269,2124,905	no	coding-synonymous	OR51E1	NM_152430.3		1414,2900,2185	AA,AG,GG		45.7655,24.2163,44.0683		273/319	4674575	5728,7270	2201	4298	6499	SO:0001583	missense	143503	exon2			CTCTCCGCTGCCC	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.149G>A	11.37:g.4674575G>A	ENSP00000431593:p.Arg50His	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_152430	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	ENST00000530215.1	37		667	0.30540293040293043	104	0.21138211382113822	156	0.430939226519337	38	0.06643356643356643	369	0.4868073878627968	C	12.62	1.992606	0.35131	0.242163	0.542345	ENSG00000180785	ENST00000530215	T	0.37058	1.22	4.77	-0.309	0.12769	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44922	-0.9296	5	0.34782	T	0.22	.	2.4516	0.04519	0.1184:0.434:0.2315:0.2162	rs3817098;rs17224511;rs56919705;rs3817098	.	.	.	H	50	ENSP00000431593:R50H	ENSP00000431593:R50H	R	+	2	0	OR51E1	4631151	0.000000	0.05858	0.952000	0.39060	0.220000	0.24768	-1.771000	0.01789	-0.131000	0.11578	-0.120000	0.15030	CGC	G|0.615;A|0.385	0.385	strong		0.493	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000385957.1	NM_152430		A	4674575	G	A	4674575	3	1	3	1	0	0	0	0	1	0	0	0	11094	1074	38	1	821	1	OR51E1	11	4674575	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3870363	4674575	130331941	255	694										
OR51S1	119692	hgsc.bcm.edu	37	chr11	4869649	4869649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atggttaatcagtgccaggaGgatcatagggatatagaaga	13	4	2	2	rs12361955	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:4869649G>A	ENST00000322101.2	-	1	865	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	264			L -> F (in dbSNP:rs12361955).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGCCAGGAGGATCATAGGG	0.498													G|||	1499	0.299321	0.3411	0.2608	5008	,	,		19746	0.0675		0.4046	False		,,,				2504	0.4008				p.L264F		Atlas-SNP	.											OR51S1,NS,carcinoma,+2,1	OR51S1	83	1	0			c.C790T						scavenged	.	G	PHE/LEU	1535,2867	485.3+/-360.3	273,989,939	112	96	102		790	3.3	1	11	dbSNP_120	102	3700,4896	528.7+/-381.4	805,2090,1403	yes	missense	OR51S1	NM_001004758.1	22	1078,3079,2342	AA,AG,GG		43.0433,34.8705,40.2754	benign	264/324	4869649	5235,7763	2201	4298	6499	SO:0001583	missense	119692	exon1			CCAGGAGGATCAT	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.790C>T	11.37:g.4869649G>A	ENSP00000322754:p.Leu264Phe	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	3	0.0252101	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	621	0.28434065934065933	168	0.34146341463414637	120	0.3314917127071823	32	0.055944055944055944	301	0.3970976253298153	G	8.217	0.801715	0.16397	0.348705	0.430433	ENSG00000176922	ENST00000322101	T	0.73363	-0.74	5.25	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.176237	0.27469	N	0.019222	T	0.00012	0.0000	N	0.04746	-0.17	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.12156	0.007	T	0.31668	-0.9935	9	0.87932	D	0	-11.6636	8.9594	0.35838	0.0843:0.295:0.6207:0.0	rs12361955;rs58301091;rs12361955	264	Q8NGJ8	O51S1_HUMAN	F	264	ENSP00000322754:L264F	ENSP00000322754:L264F	L	-	1	0	OR51S1	4826225	0.000000	0.05858	1.000000	0.80357	0.400000	0.30750	0.704000	0.25661	1.445000	0.47624	0.655000	0.94253	CTC	G|0.658;A|0.342	0.342	strong		0.498	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		A	4869649	G	A	4869649	3	1	3	1	0	0	0	0	1	0	0	0	11105	1000	35	2	184	2	OR51S1	11	4869649	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	195074	4869649	130136867	256	695										
OR52N5	390075	hgsc.bcm.edu	37	chr11	5799468	5799468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caaagggtagcaaatggctaCatagcggtctagagccatga	12	8	1	2	rs12360738	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:5799468C>T	ENST00000317093.2	-	1	429	c.397G>A	c.(397-399)Gta>Ata	p.V133I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	133			V -> I (in dbSNP:rs12360738). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAAATGGCTACATAGCGGTCT	0.493													C|||	822	0.164137	0.0363	0.1455	5008	,	,		17035	0.2937		0.1481	False		,,,				2504	0.2331				p.V133I		Atlas-SNP	.											.	OR52N5	58	.	0			c.G397A						PASS	.	C	ILE/VAL	254,3992		58,138,1927	127	103	111		397	-0.6	0.7	11	dbSNP_120	111	1219,6953		280,659,3147	yes	missense	OR52N5	NM_001001922.2	29	338,797,5074	TT,TC,CC		14.9168,5.9821,11.8618	benign	133/325	5799468	1473,10945	2123	4086	6209	SO:0001583	missense	390075	exon1			TGGCTACATAGCG	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.397G>A	11.37:g.5799468C>T	ENSP00000322866:p.Val133Ile	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	77	5	0.0649351	NM_001001922	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	CCDS31397.1	382	0.1749084249084249	23	0.046747967479674794	65	0.17955801104972377	177	0.3094405594405594	117	0.15435356200527706	C	6.344	0.431618	0.12045	0.059821	0.149168	ENSG00000181009	ENST00000317093	T	0.19250	2.16	3.7	-0.614	0.11590	GPCR, rhodopsin-like superfamily (1);	0.522424	0.11533	N	0.554463	T	0.00012	0.0000	L	0.54863	1.705	0.45962	P	0.0012180000000000524	B	0.12630	0.006	B	0.14578	0.011	T	0.38564	-0.9655	9	0.52906	T	0.07	.	3.2057	0.06665	0.1217:0.5112:0.1197:0.2474	rs12360738	133	Q8NH56	O52N5_HUMAN	I	133	ENSP00000322866:V133I	ENSP00000322866:V133I	V	-	1	0	OR52N5	5756044	0.000000	0.05858	0.659000	0.29680	0.218000	0.24690	-0.802000	0.04545	-0.499000	0.06623	-1.409000	0.01127	GTA	C|0.824;T|0.176	0.176	strong		0.493	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		T	5799468	C	T	5799468	3	4	3	1	0	0	0	0	1	0	0	0	11130	478	17	2	581	2	OR52N5	11	5799468	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	929819	5799468	129207048	257	696										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862984	5862984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgctcagtttggatcacaaaGaagatagcagcatttcccag	9	9	2	2	rs10769272	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:5862984G>C	ENST00000329322.5	-	1	143	c.144C>G	c.(142-144)ttC>ttG	p.F48L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F52L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	48			F -> L (in dbSNP:rs10769272).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F52L(1)|p.F48L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCACAAAGAAGATAGCAG	0.483													C|||	1924	0.384185	0.379	0.3184	5008	,	,		20915	0.4593		0.3728	False		,,,				2504	0.3722				p.F48L		Atlas-SNP	.											OR52E6,NS,carcinoma,0,1	OR52E6	70	1	2	Substitution - Missense(2)	prostate(2)	c.C144G						PASS	.	C	LEU/PHE	1620,2782	652.3+/-399.4	294,1032,875	120	120	120		144	-7.3	0	11	dbSNP_120	120	3010,5582	662.7+/-402.0	533,1944,1819	yes	missense	OR52E6	NM_001005167.1	22	827,2976,2694	CC,CG,GG		35.0326,36.8015,35.6318	benign	48/314	5862984	4630,8364	2201	4296	6497	SO:0001583	missense	390078	exon1			CACAAAGAAGATA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.144C>G	11.37:g.5862984G>C	ENSP00000328878:p.Phe48Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	124	5	0.0403226	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	C	0.015	-1.558484	0.00910	0.368015	0.350326	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00482	8.17;7.1	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	N	0.000475	T	0.00012	0.0000	N	0.00022	-2.74	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.02654	T	1	.	4.0047	0.09595	0.163:0.1201:0.4805:0.2364	rs10769272;rs52812932;rs10769272	48	Q96RD3	O52E6_HUMAN	L	48;52	ENSP00000328878:F48L;ENSP00000369279:F52L	ENSP00000328878:F48L	F	-	3	2	OR52E6	5819560	0.000000	0.05858	0.001000	0.08648	0.436000	0.31835	-7.918000	0.00027	-1.655000	0.01497	-0.231000	0.12243	TTC	G|0.607;C|0.393	0.393	strong		0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862984	G	C	5862984	3	2	3	1	0	0	0	0	1	0	0	0	11117	933	33	4	799	4	OR52E6	11	5862984	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	63516	5862984	129143532	258	697										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5863013	5863013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agcatttcccaggagtgcaaTaagatacacagagaaaaaag	9	7	0	2	rs4362173	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:5863013T>C	ENST00000329322.5	-	1	114	c.115A>G	c.(115-117)Att>Gtt	p.I39V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.I43V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	39			I -> V (in dbSNP:rs4362173).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGTGCAATAAGATACACA	0.468													C|||	1924	0.384185	0.379	0.3184	5008	,	,		20747	0.4593		0.3728	False		,,,				2504	0.3722				p.I39V		Atlas-SNP	.											.	OR52E6	70	.	0			c.A115G						PASS	.	C	VAL/ILE	1625,2775	632.2+/-395.8	300,1025,875	119	119	119		115	-3.2	0	11	dbSNP_111	119	3011,5581	659.9+/-401.7	534,1943,1819	yes	missense	OR52E6	NM_001005167.1	29	834,2968,2694	CC,CT,TT		35.0442,36.9318,35.6835	benign	39/314	5863013	4636,8356	2200	4296	6496	SO:0001583	missense	390078	exon1			GTGCAATAAGATA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.115A>G	11.37:g.5863013T>C	ENSP00000328878:p.Ile39Val	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	135	6	0.0444444	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	C	0	-2.611809	0.00120	0.369318	0.350442	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00253	8.43;8.43	3.64	-3.21	0.05140	.	0.674836	0.13488	N	0.384173	T	0.00012	0.0000	N	0.12569	0.235	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.23048	-1.0199	9	0.02654	T	1	.	7.5924	0.28029	0.1155:0.2699:0.0:0.6146	rs4362173;rs52822593;rs4362173	39	Q96RD3	O52E6_HUMAN	V	39;43	ENSP00000328878:I39V;ENSP00000369279:I43V	ENSP00000328878:I39V	I	-	1	0	OR52E6	5819589	0.000000	0.05858	0.002000	0.10522	0.119000	0.20118	-5.184000	0.00143	-0.999000	0.03442	-0.229000	0.12294	ATT	T|0.606;C|0.394	0.394	strong		0.468	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5863013	T	C	5863013	3	2	3	1	0	0	0	0	1	0	0	0	11117	1406	49	2	828	2	OR52E6	11	5863013	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	29	5863013	129143503	259	698										
PIK3C2A	5286	hgsc.bcm.edu	37	chr11	17191019	17191019	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgggtgagcttttctacatcAatatctaatgctcttttttg	7	7	4	1	rs214936	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:17191019A>G	ENST00000265970.7	-	1	269	c.270T>C	c.(268-270)atT>atC	p.I90I	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	90	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTCTACATCAATATCTAATG	0.378													a|||	1823	0.364018	0.3744	0.3847	5008	,	,		21861	0.1845		0.497	False		,,,				2504	0.3834				p.I90I		Atlas-SNP	.											.	PIK3C2A	148	.	0			c.T270C						PASS	.	A		1680,2720	509.6+/-367.3	318,1044,838	182	181	182		270	2	1	11	dbSNP_79	182	3973,4613	552.3+/-386.1	900,2173,1220	no	coding-synonymous	PIK3C2A	NM_002645.2		1218,3217,2058	GG,GA,AA		46.273,38.1818,43.5315		90/1687	17191019	5653,7333	2200	4293	6493	SO:0001819	synonymous_variant	5286	exon1			TACATCAATATCT	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.270T>C	11.37:g.17191019A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	162	7	0.0432099	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																			A|0.601;G|0.399	0.399	strong		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17191019	A	G	17191019	2	3	3	1	0	0	0	0	0	0	0	1	11909	126	5	2		2	PIK3C2A	11	17191019	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	11328006	17191019	117815497	260	699										
LRP4	4038	hgsc.bcm.edu	37	chr11	46897446	46897446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggttgttgttgatgagcaccGcgcggtctgagccatccatt	13	10	1	3	rs2306033	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:46897446G>A	ENST00000378623.1	-	26	3850	c.3608C>T	c.(3607-3609)gCg>gTg	p.A1203V	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1203			A -> V (in dbSNP:rs2306033).		dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GATGAGCACCGCGCGGTCTGA	0.542													G|||	1098	0.219249	0.0045	0.2781	5008	,	,		20112	0.6101		0.1193	False		,,,				2504	0.1677				p.A1203V		Atlas-SNP	.											.	LRP4	160	.	0			c.C3608T						PASS	.	G	VAL/ALA	148,4254	101.6+/-140.2	3,142,2056	131	99	110		3608	5.7	0	11	dbSNP_100	110	1051,7547	222.0+/-259.2	55,941,3303	yes	missense	LRP4	NM_002334.3	64	58,1083,5359	AA,AG,GG		12.2238,3.3621,9.2231	benign	1203/1906	46897446	1199,11801	2201	4299	6500	SO:0001583	missense	4038	exon26			AGCACCGCGCGGT	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3608C>T	11.37:g.46897446G>A	ENSP00000367888:p.Ala1203Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	87	5	0.0574713	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	537	0.24587912087912087	4	0.008130081300813009	98	0.27071823204419887	332	0.5804195804195804	103	0.1358839050131926	G	0.720	-0.783875	0.02907	0.033621	0.122238	ENSG00000134569	ENST00000378623	D	0.93811	-3.29	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.497398	0.23189	N	0.050940	T	0.00012	0.0000	N	0.02202	-0.64	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	9	0.20046	T	0.44	.	7.4774	0.27385	0.1975:0.0:0.8025:0.0	rs2306033;rs17197332;rs52799813;rs56867112;rs2306033	1203	O75096	LRP4_HUMAN	V	1203	ENSP00000367888:A1203V	ENSP00000367888:A1203V	A	-	2	0	LRP4	46854022	0.599000	0.26891	0.021000	0.16686	0.212000	0.24457	3.696000	0.54757	2.704000	0.92352	0.555000	0.69702	GCG	G|0.848;A|0.152	0.152	strong		0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46897446	G	A	46897446	3	1	3	1	0	0	0	0	1	0	0	0	8959	1087	38	1	2161	1	LRP4	11	46897446	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	29706427	46897446	88109070	261	700										
OR8J1	219477	hgsc.bcm.edu	37	chr11	56127971	56127971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	attgcccctaaaatgctgatTaactttttagtaaagaagaa	6	6	0	3	rs62001034	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:56127971T>G	ENST00000303039.3	+	1	281	c.249T>G	c.(247-249)atT>atG	p.I83M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	83						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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AAATGCTGATTAACTTTTTAG	0.408													T|||	78	0.0155751	0.0	0.0187	5008	,	,		20865	0.0		0.0109	False		,,,				2504	0.0552				p.I83M		Atlas-SNP	.											.	OR8J1	87	.	0			c.T249G						PASS	.	T	MET/ILE	15,4387	21.2+/-45.6	0,15,2186	145	136	139		249	-1.4	0.2	11	dbSNP_129	139	161,8431	75.7+/-138.4	0,161,4135	no	missense	OR8J1	NM_001005205.2	10	0,176,6321	GG,GT,TT		1.8738,0.3408,1.3545	benign	83/317	56127971	176,12818	2201	4296	6497	SO:0001583	missense	219477	exon1			GCTGATTAACTTT	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.249T>G	11.37:g.56127971T>G	ENSP00000304060:p.Ile83Met	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	162	8	0.0493827	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	18	0.008241758241758242	1	0.0020325203252032522	9	0.024861878453038673	0	0.0	8	0.010554089709762533	T	2.407	-0.336198	0.05278	0.003408	0.018738	ENSG00000172487	ENST00000303039	T	0.00397	7.57	4.57	-1.42	0.08913	GPCR, rhodopsin-like superfamily (1);	1.322050	0.04846	N	0.441440	T	0.00109	0.0003	N	0.17345	0.48	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.35624	-0.9781	10	0.48119	T	0.1	.	1.431	0.02333	0.1466:0.2709:0.1439:0.4386	rs62001034	83	Q8NGP2	OR8J1_HUMAN	M	83	ENSP00000304060:I83M	ENSP00000304060:I83M	I	+	3	3	OR8J1	55884547	0.000000	0.05858	0.239000	0.24122	0.077000	0.17291	-2.906000	0.00701	-0.125000	0.11703	-1.136000	0.01936	ATT	T|0.986;G|0.014	0.014	strong		0.408	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		G	56127971	T	G	56127971	3	3	3	1	0	0	0	0	1	0	0	0	11241	1742	61	5	251	5	OR8J1	11	56127971	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	9230525	56127971	78878545	262	701										
MS4A6A	64231	hgsc.bcm.edu	37	chr11	59945745	59945745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttactcaccaaaagcttggtTaaccttttctctgtggcgat	7	10	2	0	rs12453	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:59945745T>C	ENST00000530839.1	-	5	819	c.327A>G	c.(325-327)ttA>ttG	p.L109L	MS4A6A_ENST00000529054.1_Silent_p.L137L|MS4A6A_ENST00000528851.1_Silent_p.L109L|MS4A6A_ENST00000412309.2_Silent_p.L137L|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000323961.3_Silent_p.L109L|MS4A6A_ENST00000426738.2_Silent_p.L64L|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000420732.2_Silent_p.L109L	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	109						integral component of membrane (GO:0016021)		p.L109L(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGCTTGGTTAACCTTTTCT	0.383													T|||	1539	0.307308	0.1581	0.2723	5008	,	,		18602	0.2252		0.4046	False		,,,				2504	0.5184				p.L137L		Atlas-SNP	.											MS4A6A_ENST00000529054,NS,carcinoma,0,3	MS4A6A	85	3	1	Substitution - coding silent(1)	stomach(1)	c.A411G						scavenged	.	T	,,	882,3520	343.8+/-307.8	79,724,1398	154	143	147		327,327,327	-5.8	0	11	dbSNP_52	147	3431,5159	506.1+/-376.5	702,2027,1566	no	coding-synonymous,coding-synonymous,coding-synonymous	MS4A6A	NM_022349.2,NM_152851.1,NM_152852.1	,,	781,2751,2964	CC,CT,TT		39.9418,20.0363,33.1974	,,	109/226,109/179,109/249	59945745	4313,8679	2201	4295	6496	SO:0001819	synonymous_variant	64231	exon5			CTTGGTTAACCTT	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.327A>G	11.37:g.59945745T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	199	3	0.0150754	NM_001247999	A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	CCDS7981.1																																																																																			T|0.688;C|0.312	0.312	strong		0.383	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			C	59945745	T	C	59945745	2	2	3	1	0	0	0	0	0	0	0	1	9864	1751	61	2		2	MS4A6A	11	59945745	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3817774	59945745	75060771	263	702										
VWCE	220001	hgsc.bcm.edu	37	chr11	61048187	61048187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttttcacaggtcaccttcccGtcctagaagcacaagcagga	8	13	2	1	rs375996793		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:61048187G>A	ENST00000335613.5	-	9	1619	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	411	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCACCTTCCCGTCCTAGAAGC	0.592																																					p.D411D		Atlas-SNP	.											.	VWCE	84	.	0			c.C1233T						PASS	.	G		0,4406		0,0,2203	96	79	85		1233	-6	0.5	11		85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	VWCE	NM_152718.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		411/956	61048187	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	220001	exon9			CTTCCCGTCCTAG	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1233C>T	11.37:g.61048187G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_152718	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																			.	.	weak		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		A	61048187	G	A	61048187	2	1	3	1	0	0	0	0	0	0	0	1	17242	1136	40	1		1	VWCE	11	61048187	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1102442	61048187	73958329	264	703										
CCDC88B	283234	hgsc.bcm.edu	37	chr11	64124515	64124515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagcctttccctctaggcccTgaggtacaggaaccggagaa	12	12	1	2	rs612448	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:64124515T>C	ENST00000356786.5	+	27	4424	c.4380T>C	c.(4378-4380)ccT>ccC	p.P1460P	CCDC88B_ENST00000301897.4_Silent_p.P123P|CCDC88B_ENST00000359902.2_Missense_Mutation_p.L565P|RPS6KA4_ENST00000294261.4_5'Flank|RPS6KA4_ENST00000528057.1_5'Flank|CCDC88B_ENST00000463837.1_3'UTR|RPS6KA4_ENST00000334205.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1460						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTAGGCCCTGAGGTACAGG	0.632													C|||	1303	0.260184	0.0303	0.4107	5008	,	,		17803	0.1845		0.4334	False		,,,				2504	0.364				p.P1460P		Atlas-SNP	.											CCDC88B_ENST00000359902,NS,carcinoma,-1,1	CCDC88B	89	1	0			c.T4380C						scavenged	.	C		426,3976		23,380,1798	133	102	112		4380	0.6	0	11	dbSNP_83	112	3738,4856		794,2150,1353	no	coding-synonymous	CCDC88B	NM_032251.5		817,2530,3151	CC,CT,TT		43.4955,9.6774,32.0406		1460/1477	64124515	4164,8832	2201	4297	6498	SO:0001819	synonymous_variant	283234	exon27			AGGCCCTGAGGTA	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.4380T>C	11.37:g.64124515T>C		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	169	5	0.0295858	NM_032251	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	CCDS8072.2	605	0.27701465201465203	21	0.042682926829268296	141	0.38950276243093923	104	0.18181818181818182	339	0.4472295514511873	N	11.12	1.545644	0.27652	0.096774	0.434955	ENSG00000168071	ENST00000359902	T	0.57907	0.37	3.89	0.573	0.17363	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46652	-0.9176	6	.	.	.	.	3.3622	0.07190	0.0:0.4118:0.2053:0.3829	rs612448;rs58613170;rs612448	549	A6NC98-5	.	P	565	ENSP00000352974:L565P	.	L	+	2	0	CCDC88B	63881091	0.000000	0.05858	0.010000	0.14722	0.161000	0.22273	-0.393000	0.07305	0.007000	0.14760	-0.511000	0.04467	CTG	T|0.706;C|0.294	0.294	strong		0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		C	64124515	T	C	64124515	2	2	3	1	0	0	0	0	0	0	0	1	2864	1567	55	3		3	CCDC88B	11	64124515	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3076328	64124515	70882001	265	704										
MUS81	80198	hgsc.bcm.edu	37	chr11	65629934	65629934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggtagcccctgggagtgctcGaccctggccagccctccgct	13	17	0	0	rs545500|rs386754402	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:65629934G>C	ENST00000308110.4	+	6	888	c.539G>C	c.(538-540)cGa>cCa	p.R180P	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R105P	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	180	Interaction with BLM.		R -> P (in dbSNP:rs545500). {ECO:0000269|PubMed:11741546, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGGAGTGCTCGACCCTGGCCA	0.617								Homologous recombination					G|||	2144	0.428115	0.2012	0.4063	5008	,	,		16101	0.3323		0.668	False		,,,				2504	0.6022				p.R180P		Atlas-SNP	.											.	MUS81	68	.	0			c.G539C						PASS	.	G	PRO/ARG	1124,3278	389.6+/-327.4	153,818,1230	75	62	66		539	-2	0	11	dbSNP_83	66	5713,2879	663.9+/-402.1	1894,1925,477	yes	missense	MUS81	NM_025128.4	103	2047,2743,1707	CC,CG,GG		33.5079,25.5338,47.3834	benign	180/552	65629934	6837,6157	2201	4296	6497	SO:0001583	missense	80198	exon6			GTGCTCGACCCTG		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.539G>C	11.37:g.65629934G>C	ENSP00000307853:p.Arg180Pro	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	141	6	0.0425532	NM_025128	Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	974	0.445970695970696	117	0.23780487804878048	175	0.48342541436464087	174	0.3041958041958042	508	0.6701846965699209	G	15.14	2.746351	0.49257	0.255338	0.664921	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768	T;T;T	0.23147	2.47;2.7;1.92	5.29	-1.98	0.07480	.	0.645425	0.15248	N	0.272492	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	P	0.39551	0.678	B	0.29077	0.098	T	0.36768	-0.9734	9	0.32370	T	0.25	-0.0236	10.1301	0.42674	0.5065:0.0:0.4935:0.0	rs545500;rs17850598	180	Q96NY9	MUS81_HUMAN	P	105;180;180;105	ENSP00000432287:R105P;ENSP00000307853:R180P;ENSP00000431478:R105P	ENSP00000307853:R180P	R	+	2	0	MUS81	65386510	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-0.071000	0.11505	-0.236000	0.09753	-0.291000	0.09656	CGA	G|0.499;C|0.501	0.501	strong		0.617	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		C	65629934	G	C	65629934	3	2	3	1	0	0	0	0	1	0	0	0	9988	1058	37	4	561	4	MUS81	11	65629934	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1505419	65629934	69376582	266	705										
EFEMP2	30008	hgsc.bcm.edu	37	chr11	65638719	65638719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggtggcgggggtccctcgccGtgtaggtcgttgatgacggc	19	10	0	2	rs633800	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:65638719G>A	ENST00000307998.6	-	4	506	c.276C>T	c.(274-276)caC>caT	p.H92H	EFEMP2_ENST00000528176.1_Silent_p.H92H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	92					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTCCCTCGCCGTGTAGGTCGT	0.647													G|||	1608	0.321086	0.0953	0.3127	5008	,	,		17334	0.2262		0.503	False		,,,				2504	0.5429				p.H92H		Atlas-SNP	.											.	EFEMP2	42	.	0			c.C276T						PASS	.	G		703,3699	293.0+/-282.3	52,599,1550	95	105	102		276	-2.5	0.7	11	dbSNP_83	102	4451,4141	588.0+/-392.3	1139,2173,984	no	coding-synonymous	EFEMP2	NM_016938.4		1191,2772,2534	AA,AG,GG		48.196,15.97,39.6645		92/444	65638719	5154,7840	2201	4296	6497	SO:0001819	synonymous_variant	30008	exon4			CTCGCCGTGTAGG	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.276C>T	11.37:g.65638719G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	133	7	0.0526316	NM_016938	A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	CCDS8116.1																																																																																			G|0.642;A|0.358	0.358	strong		0.647	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		A	65638719	G	A	65638719	2	1	3	1	0	0	0	0	0	0	0	1	4942	1136	40	1		1	EFEMP2	11	65638719	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	8785	65638719	69367797	267	706										
ME3	10873	hgsc.bcm.edu	37	chr11	86198437	86198437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atcgtatgccttcccgtgcaCgcgctggtgtttcaggccga	12	13	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:86198437C>T	ENST00000393324.3	-	6	1004	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.V251M|ME3_ENST00000323418.6_Missense_Mutation_p.V189M|ME3_ENST00000359636.2_Missense_Mutation_p.V251M|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	251					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TTCCCGTGCACGCGCTGGTGT	0.512																																					p.V251M		Atlas-SNP	.											.	ME3	70	.	0			c.G751A						PASS	.						132	106	115					11																	86198437		2202	4299	6501	SO:0001583	missense	10873	exon7			CGTGCACGCGCTG	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.751G>A	11.37:g.86198437C>T	ENSP00000376998:p.Val251Met	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	92	58	0.630435	NM_006680	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596022	0.46318	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.44	4.53	0.55603	Malic enzyme, N-terminal (2);	0.187074	0.46442	N	0.000290	T	0.69169	0.3081	M	0.87547	2.89	0.58432	D	0.999995	D	0.76494	0.999	D	0.63877	0.919	T	0.74423	-0.3670	9	.	.	.	.	12.7938	0.57549	0.0:0.92:0.0:0.08	.	251	Q16798	MAON_HUMAN	M	251;251;251;251;189;189	ENSP00000352657:V251M;ENSP00000440246:V251M;ENSP00000376998:V251M;ENSP00000431182:V251M;ENSP00000315255:V189M	.	V	-	1	0	ME3	85876085	0.978000	0.34361	0.230000	0.23976	0.322000	0.28314	2.358000	0.44134	1.287000	0.44583	0.655000	0.94253	GTG	.	.	none		0.512	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			T	86198437	C	T	86198437	3	4	3	1	0	0	0	0	1	0	0	0	9419	536	19	1	1099	1	ME3	11	86198437	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	20559718	86198437	48808079	268	707										
NCAM1	4684	hgsc.bcm.edu	37	chr11	112832309	112832340	+	5'UTR	DEL	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagaatttaccgcggcaagaCatccctcccagccagcagat					rs543798793|rs201772924|rs563686839|rs11284059	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:112832309_112832340delCATCCCTCCCAGCCAGCAGATTACAATGCTGC	ENST00000533760.1	+	0	220_251				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)		CGCGGCAAGACATCCCTCCCAGCCAGCAGATTACAATGCTGCCAAACTAAGG	0.487																																					.		Pindel	.											.	NCAM1	372	.	0			.						PASS	.																																			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.-349CATCCCTCCCAGCCAGCAGATTACAATGCTGC>-	11.37:g.112832309_112832340delCATCCCTCCCAGCCAGCAGATTACAATGCTGC		Somatic	0	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_001242607	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Del	DEL	ENST00000533760.1	37																																																																																				.	.	none		0.487	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		-	112832340	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	-	112832309	6	5	3	0	1	1	0	1	0	0	0	0	10202	493	17	0		0	NCAM1	11	112832309	5'UTR	DEL	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	TCGA-FA-A4XK-01A-11D-A31X-10	26633872	112832309	22174207	269	708										
OR4D5	219875	hgsc.bcm.edu	37	chr11	123811056	123811056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctacctgtgcctctcacattGctgtggtgaccttaatcttt	7	12	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr11:123811056G>A	ENST00000307033.2	+	1	807	c.733G>A	c.(733-735)Gct>Act	p.A245T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTCTCACATTGCTGTGGTGAC	0.532																																					p.A245T		Atlas-SNP	.											.	OR4D5	94	.	0			c.G733A						PASS	.						235	188	204					11																	123811056		2202	4299	6501	SO:0001583	missense	219875	exon1			CACATTGCTGTGG	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.733G>A	11.37:g.123811056G>A	ENSP00000305970:p.Ala245Thr	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	139	35	0.251799	NM_001001965	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	2.022	-0.424500	0.04734	.	.	ENSG00000171014	ENST00000307033	T	0.36520	1.25	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.437967	0.19315	N	0.117284	T	0.08891	0.0220	N	0.00462	-1.47	0.22521	N	0.999028	B	0.02656	0.0	B	0.06405	0.002	T	0.28586	-1.0039	10	0.02654	T	1	-6.2297	9.8887	0.41276	0.1608:0.0:0.8392:0.0	.	245	Q8NGN0	OR4D5_HUMAN	T	245	ENSP00000305970:A245T	ENSP00000305970:A245T	A	+	1	0	OR4D5	123316266	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.241000	0.18065	1.275000	0.44379	0.650000	0.86243	GCT	.	.	none		0.532	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		A	123811056	G	A	123811056	3	1	3	1	0	0	0	0	1	0	0	0	11057	1319	46	2	735	2	OR4D5	11	123811056	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	10978747	123811056	11195460	270	709										
PLEKHG6	55200	hgsc.bcm.edu	37	chr12	6427052	6427052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtggagtcattcctgcgacaCatcaatgggcaggtccgcca	12	12	2	0	rs1468603	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:6427052C>T	ENST00000396988.3	+	10	1277	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	PLEKHG6_ENST00000449001.2_Silent_p.H317H|PLEKHG6_ENST00000011684.7_Silent_p.H349H|PLEKHG6_ENST00000536531.1_Silent_p.H349H|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	349	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCCTGCGACACATCAATGGGC	0.637													C|||	1872	0.373802	0.2375	0.353	5008	,	,		17730	0.2817		0.6203	False		,,,				2504	0.4141				p.H349H		Atlas-SNP	.											.	PLEKHG6	62	.	0			c.C1047T						PASS	.	C	,,	1218,3128		206,806,1161	31	28	29		1047,951,1047	3.8	1	12	dbSNP_88	29	5153,3401		1591,1971,715	no	coding-synonymous,coding-synonymous,coding-synonymous	PLEKHG6	NM_001144856.1,NM_001144857.1,NM_018173.3	,,	1797,2777,1876	TT,TC,CC		39.7592,28.0258,49.3876	,,	349/791,317/759,349/791	6427052	6371,6529	2173	4277	6450	SO:0001819	synonymous_variant	55200	exon10			GCGACACATCAAT	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1047C>T	12.37:g.6427052C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	124	11	0.0887097	NM_001144856	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	CCDS8541.1																																																																																			C|0.580;T|0.420	0.420	strong		0.637	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		T	6427052	C	T	6427052	2	4	3	1	0	0	0	0	0	0	0	1	12074	477	17	2		2	PLEKHG6	12	6427052	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		6427052	127424843	271	710										
APOBEC1	339	hgsc.bcm.edu	37	chr12	7805236	7805236	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aaccaggtgatggagcagctCatggatgggtgaaaatctct	13	7	2	2	rs2302515	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:7805236C>G	ENST00000229304.4	-	3	260	c.240G>C	c.(238-240)atG>atC	p.M80I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	80			M -> I (in dbSNP:rs2302515). {ECO:0000269|PubMed:8078915, ECO:0000269|PubMed:8208612, ECO:0000269|PubMed:9186903, ECO:0000269|PubMed:9479499}.		cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGAGCAGCTCATGGATGGGT	0.478													G|||	3301	0.659145	0.4962	0.6225	5008	,	,		-128	0.5565		0.8946	False		,,,				2504	0.7689				p.M80I	Pancreas(135;929 1826 4531 10527 41012)	Atlas-SNP	.											APOBEC1,NS,carcinoma,-1,1	APOBEC1	43	1	0			c.G240C						scavenged	.	G	ILE/MET	2470,1936	550.5+/-378.0	689,1092,422	45	44	44		240	2.6	0.1	12	dbSNP_100	44	7658,942	207.3+/-249.1	3421,816,63	yes	missense	APOBEC1	NM_001644.3	10	4110,1908,485	GG,GC,CC		10.9535,43.9401,22.1282	benign	80/237	7805236	10128,2878	2203	4300	6503	SO:0001583	missense	339	exon3			GCAGCTCATGGAT	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.240G>C	12.37:g.7805236C>G	ENSP00000229304:p.Met80Ile	Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	161	4	0.0248447	NM_001644	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	1518	0.695054945054945	265	0.5386178861788617	253	0.6988950276243094	327	0.5716783216783217	673	0.8878627968337731	G	0.882	-0.728398	0.03135	0.560599	0.890465	ENSG00000111701	ENST00000229304	T	0.63255	-0.03	4.48	2.61	0.31194	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	1.098920	0.06892	N	0.804464	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37197	-0.9716	9	0.33141	T	0.24	-0.1288	4.4167	0.11459	0.2061:0.1881:0.6058:0.0	rs2302515;rs3181612;rs52811404;rs59440410;rs2302515	80	P41238	ABEC1_HUMAN	I	80	ENSP00000229304:M80I	ENSP00000229304:M80I	M	-	3	0	APOBEC1	7696503	0.000000	0.05858	0.068000	0.19968	0.290000	0.27261	-0.218000	0.09240	0.468000	0.27243	-0.357000	0.07601	ATG	C|0.248;G|0.752	0.752	strong		0.478	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		G	7805236	C	G	7805236	3	3	3	1	0	0	0	0	1	0	0	0	787	826	29	4	482	4	APOBEC1	12	7805236	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1378184	7805236	126046659	272	711										
NANOG	79923	hgsc.bcm.edu	37	chr12	7945559	7945559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaacagtctctcctcttccTtcctccatggatctgcttat	4	16	3	0	rs386760025|rs4294629	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:7945559T>C	ENST00000229307.4	+	2	384	c.165T>C	c.(163-165)ccT>ccC	p.P55P	NANOG_ENST00000526286.1_Silent_p.P55P	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	55					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTCCTCTTCCTTCCTCCATGG	0.373													T|||	1901	0.379593	0.3313	0.5259	5008	,	,		-128	0.0536		0.5915	False		,,,				2504	0.4591				p.P55P		Atlas-SNP	.											NANOG,NS,malignant_melanoma,+2,1	NANOG	30	1	0			c.T165C						scavenged	.	T		1599,2807		285,1029,889	106	109	108		165	0.5	0.9	12	dbSNP_111	108	4981,3619		1448,2085,767	no	coding-synonymous	NANOG	NM_024865.2		1733,3114,1656	CC,CT,TT		42.0814,36.2914,49.408		55/306	7945559	6580,6426	2203	4300	6503	SO:0001819	synonymous_variant	79923	exon2			TCTTCCTTCCTCC	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.165T>C	12.37:g.7945559T>C		Somatic	394	0	0		WXS	Illumina HiSeq	Phase_I	464	6	0.012931	NM_024865	D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																			T|0.548;C|0.452	0.452	strong		0.373	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		C	7945559	T	C	7945559	2	2	3	1	0	0	0	0	0	0	0	1	10150	1596	56	3		3	NANOG	12	7945559	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	140323	7945559	125906336	273	712										
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329652	8329652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgattcgggagaagattgcActcacagttccacaataact	8	9	1	3	rs10743251	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:8329652A>G	ENST00000359286.4	+	5	465	c.376A>G	c.(376-378)Act>Gct	p.T126A		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	126			T -> A (in dbSNP:rs10743251).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T126A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AGAAGATTGCACTCACAGTTC	0.403																																					p.T126A		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.A376G						scavenged	.						99	99	99					12																	8329652		2202	4291	6493	SO:0001583	missense	440077	exon5			GATTGCACTCACA	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.376A>G	12.37:g.8329652A>G	ENSP00000352233:p.Thr126Ala	Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	358	7	0.0195531	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	1046	0.47893772893772896	208	0.42276422764227645	167	0.4613259668508287	276	0.4825174825174825	395	0.521108179419525	.	7.485	0.649440	0.14516	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.07216	3.21;3.21	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.20807	0.61	0.80722	P	0.0	B	0.28850	0.225	B	0.17979	0.02	T	0.39121	-0.9629	8	0.28530	T	0.3	.	4.2628	0.10749	0.6373:0.3627:0.0:0.0	rs10743251;rs57777260	126	Q6ZN79	Z705A_HUMAN	A	126	ENSP00000379816:T126A;ENSP00000352233:T126A	ENSP00000352233:T126A	T	+	1	0	ZNF705A	8220919	0.067000	0.21026	0.047000	0.18901	0.094000	0.18550	2.005000	0.40864	0.891000	0.36235	0.329000	0.21502	ACT	A|0.527;G|0.473	0.473	strong		0.403	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		G	8329652	A	G	8329652	3	3	3	1	0	0	0	0	1	0	0	0	18105	159	6	2	394	2	ZNF705A	12	8329652	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	384093	8329652	125522243	274	713			1	4		3	3	49	N	C_A	2.006874e-07
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329676	8329676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acagttccacaataactcagCgtttgttaactcacagtgga	7	10	2	0	rs10743252	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:8329676C>T	ENST00000359286.4	+	5	489	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	134			R -> C (in dbSNP:rs10743252).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R134C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AATAACTCAGCGTTTGTTAAC	0.388													t|||	2511	0.501398	0.4992	0.4914	5008	,	,		-128	0.5288		0.5845	False		,,,				2504	0.3978				p.R134C		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.C400T						scavenged	.	T	CYS/ARG	1857,2549		567,723,913	112	110	111		400	-2.7	0	12	dbSNP_120	111	4182,4414		1355,1472,1471	no	missense	ZNF705A	NM_001004328.2	180	1922,2195,2384	TT,TC,CC		48.6505,42.1471,46.4467	benign	134/301	8329676	6039,6963	2203	4298	6501	SO:0001583	missense	440077	exon5			ACTCAGCGTTTGT	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.400C>T	12.37:g.8329676C>T	ENSP00000352233:p.Arg134Cys	Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	335	4	0.0119403	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	996	0.45604395604395603	179	0.3638211382113821	164	0.4530386740331492	274	0.479020979020979	379	0.5	.	1.048	-0.676742	0.03378	0.421471	0.486505	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.08634	3.07;3.07	1.35	-2.7	0.06004	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	8	0.56958	D	0.05	.	3.8537	0.08967	0.4174:0.3552:0.0:0.2273	rs10743252;rs61402447	134	Q6ZN79	Z705A_HUMAN	C	134	ENSP00000379816:R134C;ENSP00000352233:R134C	ENSP00000352233:R134C	R	+	1	0	ZNF705A	8220943	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.071000	0.03437	-2.873000	0.00322	-1.619000	0.00793	CGT	C|0.481;T|0.519	0.519	strong		0.388	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		T	8329676	C	T	8329676	3	4	3	1	0	0	0	0	1	0	0	0	18105	768	27	1	418	1	ZNF705A	12	8329676	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	24	8329676	125522219	275	714			1	4		3	3	49	N	C_A	2.006874e-07
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329700	8329700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgttaactcacagtggaaagAaaccctatgtcagcaaacag	8	9	2	1	rs10743253	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:8329700A>C	ENST00000359286.4	+	5	513	c.424A>C	c.(424-426)Aaa>Caa	p.K142Q		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	142			K -> Q (in dbSNP:rs10743253).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K142Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		CAGTGGAAAGAAACCCTATGT	0.373													a|||	2152	0.429712	0.2882	0.4683	5008	,	,		-128	0.5198		0.5616	False		,,,				2504	0.365				p.K142Q		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.A424C						scavenged	.	A	GLN/LYS	1390,3016		224,942,1037	125	128	127		424	1.4	0.1	12	dbSNP_120	127	4659,3941		1319,2021,960	no	missense	ZNF705A	NM_001004328.2	53	1543,2963,1997	CC,CA,AA		45.8256,31.5479,46.5093	probably-damaging	142/301	8329700	6049,6957	2203	4300	6503	SO:0001583	missense	440077	exon5			GGAAAGAAACCCT	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.424A>C	12.37:g.8329700A>C	ENSP00000352233:p.Lys142Gln	Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	378	5	0.0132275	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	1021	0.4674908424908425	136	0.2764227642276423	170	0.4696132596685083	300	0.5244755244755245	415	0.5474934036939314	.	16.40	3.111296	0.56398	0.315479	0.541744	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.02280	4.36;4.36	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.88450	2.955	0.44309	P	0.0028200000000000447	D	0.57899	0.981	P	0.59221	0.854	T	0.39860	-0.9593	8	0.87932	D	0	.	6.8118	0.23809	1.0:0.0:0.0:0.0	rs10743253;rs17801815	142	Q6ZN79	Z705A_HUMAN	Q	142	ENSP00000379816:K142Q;ENSP00000352233:K142Q	ENSP00000352233:K142Q	K	+	1	0	ZNF705A	8220967	0.311000	0.24536	0.078000	0.20375	0.253000	0.25986	3.275000	0.51639	0.891000	0.36235	0.329000	0.21502	AAA	A|0.528;C|0.471	0.471	strong		0.373	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		C	8329700	A	C	8329700	3	2	3	1	0	0	0	0	1	0	0	0	18105	247	9	5	442	5	ZNF705A	12	8329700	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	24	8329700	125522195	276	715			1	4		3	3	49	N	C_A	2.006874e-07
FAR2	55711	hgsc.bcm.edu	37	chr12	29423460	29423460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggctttctgggcaaagtgctGatggagaagctgtttcgcac	14	8	1	2	rs2216854	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:29423460G>A	ENST00000536681.3	+	2	324	c.78G>A	c.(76-78)ctG>ctA	p.L26L	FAR2_ENST00000182377.4_Silent_p.L26L|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	26					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.L26L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCAAAGTGCTGATGGAGAAGC	0.522													G|||	2143	0.427915	0.6399	0.2781	5008	,	,		19075	0.4058		0.3459	False		,,,				2504	0.3548				p.L26L		Atlas-SNP	.											FAR2,NS,carcinoma,0,1	FAR2	60	1	1	Substitution - coding silent(1)	stomach(1)	c.G78A						scavenged	.	G		2631,1775	643.9+/-397.9	785,1061,357	79	77	78		78	2.2	1	12	dbSNP_96	78	3261,5339	489.3+/-372.6	641,1979,1680	no	coding-synonymous	FAR2	NM_018099.3		1426,3040,2037	AA,AG,GG		37.9186,40.286,45.3022		26/516	29423460	5892,7114	2203	4300	6503	SO:0001819	synonymous_variant	55711	exon2			AGTGCTGATGGAG	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.78G>A	12.37:g.29423460G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	259	7	0.027027	NM_018099	F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	CCDS8717.1																																																																																			G|0.554;A|0.446	0.446	strong		0.522	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		A	29423460	G	A	29423460	2	1	3	1	0	0	0	0	0	0	0	1	5675	1277	45	2		2	FAR2	12	29423460	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	21093760	29423460	104428435	277	716										
FGD4	121512	hgsc.bcm.edu	37	chr12	32735236	32735236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cctgcatcacccacaacagaCagctgtgatggaaatgcttc	8	13	1	2	rs904582	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:32735236C>T	ENST00000427716.2	+	4	859	c.435C>T	c.(433-435)gaC>gaT	p.D145D	FGD4_ENST00000472289.1_Silent_p.D145D|FGD4_ENST00000546442.1_Silent_p.D52D|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.D257D|FGD4_ENST00000534526.2_Silent_p.D282D|FGD4_ENST00000531134.1_Silent_p.D230D	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	145	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCACAACAGACAGCTGTGATG	0.488													T|||	2339	0.467053	0.7247	0.4928	5008	,	,		1102	0.2401		0.4036	False		,,,				2504	0.3998				p.D145D		Atlas-SNP	.											.	FGD4	86	.	0			c.C435T						PASS	.	T		3031,1375	434.7+/-344.0	1023,985,195	93	90	91		435	-0.2	0	12	dbSNP_86	91	3458,5142	637.0+/-399.2	710,2038,1552	no	coding-synonymous	FGD4	NM_139241.2		1733,3023,1747	TT,TC,CC		40.2093,31.2074,49.8924		145/767	32735236	6489,6517	2203	4300	6503	SO:0001819	synonymous_variant	121512	exon4			AACAGACAGCTGT	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.435C>T	12.37:g.32735236C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_139241	Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	CCDS8727.1																																																																																			C|0.515;T|0.485	0.485	strong		0.488	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		T	32735236	C	T	32735236	2	4	3	1	0	0	0	0	0	0	0	1	5835	477	17	2		2	FGD4	12	32735236	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	3311776	32735236	101116659	278	717										
ALG10B	144245	hgsc.bcm.edu	37	chr12	38715000	38715000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaaatagtcaggacattcaAaggtttatgtggtaatatca	8	6	3	0	rs35518352	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:38715000A>G	ENST00000308742.4	+	3	1723	c.1407A>G	c.(1405-1407)caA>caG	p.Q469Q	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	469					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGACATTCAAAGGTTTATGT	0.318													A|||	1259	0.251398	0.1377	0.2867	5008	,	,		16352	0.1429		0.4513	False		,,,				2504	0.2863				p.Q469Q		Atlas-SNP	.											ALG10B,colon,carcinoma,0,1	ALG10B	58	1	0			c.A1407G						scavenged	.	A		716,3688	278.7+/-274.4	65,586,1551	118	120	119		1407	-0.6	1	12	dbSNP_126	119	3877,4717	533.8+/-382.5	859,2159,1279	no	coding-synonymous	ALG10B	NM_001013620.3		924,2745,2830	GG,GA,AA		45.1129,16.2579,35.3362		469/474	38715000	4593,8405	2202	4297	6499	SO:0001819	synonymous_variant	144245	exon3			CATTCAAAGGTTT	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1407A>G	12.37:g.38715000A>G		Somatic	359	1	0.00278552		WXS	Illumina HiSeq	Phase_I	386	4	0.0103627	NM_001013620	B2RPF4	Silent	SNP	ENST00000308742.4	37	CCDS31772.1																																																																																			A|0.664;G|0.336	0.336	strong		0.318	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		G	38715000	A	G	38715000	2	3	3	1	0	0	0	0	0	0	0	1	512	11	1	2		2	ALG10B	12	38715000	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	5979764	38715000	95136895	279	718										
CPNE8	144402	hgsc.bcm.edu	37	chr12	39087609	39087609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcagttggtaaggattcatGtagtggagggaagtgggctg	17	3	2	0	rs3759139	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:39087609G>A	ENST00000331366.5	-	15	1089	c.993C>T	c.(991-993)taC>taT	p.Y331Y	CPNE8_ENST00000360449.3_Silent_p.Y319Y|CPNE8_ENST00000538596.2_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)		p.Y331Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAGGATTCATGTAGTGGAGGG	0.378													G|||	1314	0.26238	0.0477	0.2997	5008	,	,		17328	0.2331		0.4493	False		,,,				2504	0.364				p.Y331Y		Atlas-SNP	.											CPNE8,NS,carcinoma,0,1	CPNE8	66	1	1	Substitution - coding silent(1)	stomach(1)	c.C993T						PASS	.	G		450,3956	215.1+/-234.2	21,408,1774	120	99	106		993	0	1	12	dbSNP_107	106	3855,4745	543.3+/-384.4	843,2169,1288	no	coding-synonymous	CPNE8	NM_153634.2		864,2577,3062	AA,AG,GG		44.8256,10.2133,33.1001		331/565	39087609	4305,8701	2203	4300	6503	SO:0001819	synonymous_variant	144402	exon15			ATTCATGTAGTGG	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.993C>T	12.37:g.39087609G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	164	7	0.0426829	NM_153634	Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	CCDS8733.1																																																																																			G|0.695;A|0.305	0.305	strong		0.378	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		A	39087609	G	A	39087609	2	1	3	1	0	0	0	0	0	0	0	1	3818	1372	48	2		2	CPNE8	12	39087609	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	372609	39087609	94764286	280	719										
CNTN1	1272	hgsc.bcm.edu	37	chr12	41337435	41337435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatggtagcttggaaatcaaCaacattacaaggaatgatgg	11	5	1	1	rs1056019	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:41337435C>T	ENST00000551295.2	+	13	1533	c.1416C>T	c.(1414-1416)aaC>aaT	p.N472N	CNTN1_ENST00000547702.1_Silent_p.N472N|CNTN1_ENST00000348761.2_Silent_p.N461N|CNTN1_ENST00000547849.1_Silent_p.N472N|CNTN1_ENST00000360099.3_Silent_p.N472N|CNTN1_ENST00000347616.1_Silent_p.N472N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	472	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGAAATCAACAACATTACAA	0.313													T|||	2862	0.571486	0.5862	0.6628	5008	,	,		15700	0.4365		0.6571	False		,,,				2504	0.5378				p.N472N		Atlas-SNP	.											CNTN1,NS,carcinoma,0,1	CNTN1	207	1	0			c.C1416T						scavenged	.	T	,	2584,1822	532.2+/-373.4	740,1104,359	101	100	101		1416,1383	-1.7	1	12	dbSNP_86	101	5499,3099	472.1+/-368.3	1742,2015,542	no	coding-synonymous,coding-synonymous	CNTN1	NM_001843.2,NM_175038.1	,	2482,3119,901	TT,TC,CC		36.0433,41.3527,37.8422	,	472/1019,461/1008	41337435	8083,4921	2203	4299	6502	SO:0001819	synonymous_variant	1272	exon13			AATCAACAACATT	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1416C>T	12.37:g.41337435C>T		Somatic	371	2	0.00539084		WXS	Illumina HiSeq	Phase_I	471	11	0.0233546	NM_001256063	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	CCDS8737.1																																																																																			C|0.397;T|0.603	0.603	strong		0.313	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		T	41337435	C	T	41337435	2	4	3	1	0	0	0	0	0	0	0	1	3640	477	17	2		2	CNTN1	12	41337435	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2249826	41337435	92514460	281	720										
TWF1	5756	hgsc.bcm.edu	37	chr12	44196125	44196125	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaccatgcaatgaatatccaTtcatatccctgggcattctg	7	11	2	1	rs112006889	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:44196125T>C	ENST00000395510.2	-	3	375	c.246A>G	c.(244-246)gaA>gaG	p.E82E	TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000548315.1_Silent_p.E82E|TWF1_ENST00000325127.4_Silent_p.E116E|TWF1_ENST00000547564.1_5'UTR	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	82	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGAATATCCATTCATATCCCT	0.328													T|||	248	0.0495208	0.0393	0.072	5008	,	,		16572	0.0556		0.0119	False		,,,				2504	0.0798				p.E82E		Atlas-SNP	.											TWF1,NS,carcinoma,-2,1	TWF1	37	1	0			c.A246G						scavenged	.	T	,	136,4270	94.8+/-133.5	2,132,2069	51	55	54		246,246	-3.7	1	12	dbSNP_132	54	156,8440	73.2+/-135.9	2,152,4144	no	coding-synonymous,coding-synonymous	TWF1	NM_001242397.1,NM_002822.4	,	4,284,6213	CC,CT,TT		1.8148,3.0867,2.2458	,	82/358,82/351	44196125	292,12710	2203	4298	6501	SO:0001819	synonymous_variant	5756	exon3			TATCCATTCATAT	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.246A>G	12.37:g.44196125T>C		Somatic	305	3	0.00983607		WXS	Illumina HiSeq	Phase_I	412	7	0.0169903	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	ENST00000395510.2	37	CCDS31780.2																																																																																			T|0.973;C|0.027	0.027	strong		0.328	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		C	44196125	T	C	44196125	2	2	3	1	0	0	0	0	0	0	0	1	16778	1490	52	2		2	TWF1	12	44196125	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	2858690	44196125	89655770	282	721										
SENP1	29843	hgsc.bcm.edu	37	chr12	48477422	48477422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgagttttcttggggctcaaAagacttcgacgacatgaacc	10	9	2	3	rs886588	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:48477422A>G	ENST00000004980.5	-	6	982	c.504T>C	c.(502-504)ctT>ctC	p.L168L	SENP1_ENST00000547886.1_5'UTR|RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Silent_p.L168L|SENP1_ENST00000549595.1_Silent_p.L168L|SENP1_ENST00000448372.1_Silent_p.L168L|SENP1_ENST00000551330.1_Silent_p.L168L			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	168	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.L168L(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGGGGCTCAAAAGACTTCGAC	0.408													A|||	803	0.160343	0.053	0.1744	5008	,	,		18083	0.2371		0.2177	False		,,,				2504	0.1575				p.L168L		Atlas-SNP	.											SENP1,NS,carcinoma,0,1	SENP1	44	1	1	Substitution - coding silent(1)	stomach(1)	c.T504C						scavenged	.	A		253,3463		11,231,1616	120	111	114		504	1.8	1	12	dbSNP_86	114	1803,6381		192,1419,2481	no	coding-synonymous	SENP1	NM_014554.2		203,1650,4097	GG,GA,AA		22.0308,6.8084,17.2773		168/644	48477422	2056,9844	1858	4092	5950	SO:0001819	synonymous_variant	29843	exon6			GCTCAAAAGACTT	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.504T>C	12.37:g.48477422A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	142	3	0.0211268	NM_001267594	A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	CCDS44868.2																																																																																			A|0.817;G|0.183	0.183	strong		0.408	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		G	48477422	A	G	48477422	2	3	3	1	0	0	0	0	0	0	0	1	14046	1	1	2		2	SENP1	12	48477422	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	4281297	48477422	85374473	283	722										
TROAP	10024	hgsc.bcm.edu	37	chr12	49723963	49723963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caacagctgttgagacaggaAgtagaggggctggtaggggg	19	5	0	2	rs4243545	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:49723963A>G	ENST00000257909.3	+	13	1411	c.1335A>G	c.(1333-1335)gaA>gaG	p.E445E	TROAP_ENST00000547923.1_Silent_p.E153E|TROAP_ENST00000551245.1_Silent_p.E445E	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	445					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.E445E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGAGACAGGAAGTAGAGGGGC	0.532													G|||	972	0.194089	0.4123	0.1138	5008	,	,		19065	0.0407		0.1531	False		,,,				2504	0.1564				p.E445E		Atlas-SNP	.											TROAP,NS,carcinoma,0,1	TROAP	80	1	1	Substitution - coding silent(1)	stomach(1)	c.A1335G						scavenged	.	G		1686,2720	629.2+/-395.2	314,1058,831	105	110	108		1335	1.6	0.8	12	dbSNP_111	108	1408,7188	725.2+/-406.5	122,1164,3012	no	coding-synonymous	TROAP	NM_005480.3		436,2222,3843	GG,GA,AA		16.3797,38.266,23.7963		445/779	49723963	3094,9908	2203	4298	6501	SO:0001819	synonymous_variant	10024	exon13			ACAGGAAGTAGAG	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1335A>G	12.37:g.49723963A>G		Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	183	7	0.0382514	NM_005480	F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	CCDS8784.1																																																																																			A|0.789;G|0.211	0.211	strong		0.532	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		G	49723963	A	G	49723963	2	3	3	1	0	0	0	0	0	0	0	1	16572	69	3	3		3	TROAP	12	49723963	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1246541	49723963	84127932	284	723										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52284586	52284586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgccccttcactcctagaaCggctgcaggctaccttgagc	9	15	1	2	rs200291062		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:52284586C>T	ENST00000340970.4	+	5	852	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ANKRD33_ENST00000538991.1_Missense_Mutation_p.R92W|ANKRD33_ENST00000301190.6_Missense_Mutation_p.R286W|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	161					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCCTAGAACGGCTGCAGGC	0.662																																					p.R286W		Atlas-SNP	.											.	ANKRD33	33	.	0			c.C856T						PASS	.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	25	24	24		481,856	0.1	0.6	12		24	4,8590		0,4,4293	yes	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	101,101	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	161/273,286/453	52284586	4,12996	2203	4297	6500	SO:0001583	missense	341405	exon5			CTAGAACGGCTGC		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.481C>T	12.37:g.52284586C>T	ENSP00000344690:p.Arg161Trp	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	44	19	0.431818	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419121	0.42918	0.0	4.65E-4	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.24908	1.93;1.83;2.28	4.7	0.0507	0.14294	.	0.080339	0.47455	D	0.000234	T	0.39655	0.1086	L	0.55481	1.735	0.21473	N	0.999672	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.984;0.977	T	0.22836	-1.0205	10	0.37606	T	0.19	-7.9632	11.629	0.51162	0.7308:0.2692:0.0:0.0	.	161;92;286	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	W	286;92;161	ENSP00000301190:R286W;ENSP00000443722:R92W;ENSP00000344690:R161W	ENSP00000301190:R286W	R	+	1	2	ANKRD33	50570853	0.279000	0.24239	0.605000	0.28930	0.607000	0.37147	0.456000	0.21859	0.192000	0.20272	0.561000	0.74099	CGG	.	.	weak		0.662	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52284586	C	T	52284586	3	4	3	1	0	0	0	0	1	0	0	0	661	527	19	1	904	1	ANKRD33	12	52284586	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2560623	52284586	81567309	285	724										
KRT83	3889	hgsc.bcm.edu	37	chr12	52709883	52709883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcagactgggccaccgcagcTtccagcttggagttctggga	13	12	2	1	rs2248473	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:52709883T>C	ENST00000293670.3	-	7	1118	c.1056A>G	c.(1054-1056)gaA>gaG	p.E352E		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	352	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E352E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACCGCAGCTTCCAGCTTGG	0.567													N|||	1882	0.375799	0.5008	0.317	5008	,	,		16721	0.1885		0.4095	False		,,,				2504	0.407				p.E352E	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	Atlas-SNP	.											KRT83,NS,carcinoma,0,1	KRT83	64	1	1	Substitution - coding silent(1)	stomach(1)	c.A1056G						scavenged	.	T		2084,2322		553,978,672	23	26	25		1056	3	0.9	12	dbSNP_100	25	3392,5208		718,1956,1626	no	coding-synonymous	KRT83	NM_002282.3		1271,2934,2298	CC,CT,TT		39.4419,47.2991,42.1036		352/494	52709883	5476,7530	2203	4300	6503	SO:0001819	synonymous_variant	3889	exon7			CGCAGCTTCCAGC	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1056A>G	12.37:g.52709883T>C		Somatic	47	1	0.0212766		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_002282	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	CCDS8823.1																																																																																			T|0.629;C|0.371	0.371	strong		0.567	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		C	52709883	T	C	52709883	2	2	3	1	0	0	0	0	0	0	0	1	8497	1606	56	3		3	KRT83	12	52709883	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	425297	52709883	81142012	286	725										
KRT83	3889	hgsc.bcm.edu	37	chr12	52710309	52710309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggatcatgcggttcagctcGttgatctcctccttggtgcg	12	11	3	1	rs2257286	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:52710309G>A	ENST00000293670.3	-	6	1046	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	328	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.N328N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTTCAGCTCGTTGATCTCCT	0.602													g|||	1882	0.375799	0.5008	0.317	5008	,	,		19119	0.1885		0.4095	False		,,,				2504	0.407				p.N328N	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	Atlas-SNP	.											KRT83,NS,carcinoma,0,1	KRT83	64	1	1	Substitution - coding silent(1)	stomach(1)	c.C984T						scavenged	.	G		2156,2250	582.3+/-385.5	551,1054,598	127	101	110		984	-1.3	1	12	dbSNP_100	110	3529,5067	514.6+/-378.4	722,2085,1491	no	coding-synonymous	KRT83	NM_002282.3		1273,3139,2089	AA,AG,GG		41.054,48.9333,43.724		328/494	52710309	5685,7317	2203	4298	6501	SO:0001819	synonymous_variant	3889	exon6			CAGCTCGTTGATC	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.984C>T	12.37:g.52710309G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	76	2	0.0263158	NM_002282	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	CCDS8823.1																																																																																			.	.	weak		0.602	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		A	52710309	G	A	52710309	2	1	3	1	0	0	0	0	0	0	0	1	8497	1136	40	1		1	KRT83	12	52710309	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	426	52710309	81141586	287	726										
KRT6A	3853	hgsc.bcm.edu	37	chr12	52885485	52885485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgcagcagggtccactttgtTtccagaaccttgttctgctg	10	11	1	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:52885485T>G	ENST00000330722.6	-	2	644	c.576A>C	c.(574-576)gaA>gaC	p.E192D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	192	Coil 1A.|Rod.			E -> D (in Ref. 1; AAB60696). {ECO:0000305}.	cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACTTTGTTTCCAGAACCT	0.532																																					p.E192D		Atlas-SNP	.											KRT6A,NS,haematopoietic_neoplasm,0,1	KRT6A	89	1	0			c.A576C						scavenged	.						66	67	67					12																	52885485		2203	4300	6503	SO:0001583	missense	3853	exon2			CTTTGTTTCCAGA	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.576A>C	12.37:g.52885485T>G	ENSP00000369317:p.Glu192Asp	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	136	4	0.0294118	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	15.33	2.801841	0.50315	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.78595	-1.19	5.26	-1.41	0.08941	Filament (1);	0.298035	0.28414	N	0.015426	T	0.76772	0.4034	M	0.92555	3.32	0.31174	N	0.70282	B	0.24651	0.108	B	0.31016	0.123	T	0.68059	-0.5509	10	0.40728	T	0.16	.	2.0814	0.03635	0.1319:0.2762:0.2398:0.352	.	192	P02538	K2C6A_HUMAN	D	192;148	ENSP00000369317:E192D	ENSP00000369317:E192D	E	-	3	2	KRT6A	51171752	0.999000	0.42202	0.994000	0.49952	0.965000	0.64279	0.625000	0.24477	-0.197000	0.10350	-0.302000	0.09304	GAA	.	.	none		0.532	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		G	52885485	T	G	52885485	3	3	3	1	0	0	0	0	1	0	0	0	8480	1838	64	5	1150	5	KRT6A	12	52885485	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	175176	52885485	80966410	288	727										
ERBB3	2065	hgsc.bcm.edu	37	chr12	56494991	56494991	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagaaagtgtcaatgtgtagGagccggagcaggagccggag	18	6	1	1	rs2271189	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:56494991G>A	ENST00000267101.3	+	27	3788	c.3348G>A	c.(3346-3348)agG>agA	p.R1116R	ERBB3_ENST00000549832.1_Silent_p.R236R|ERBB3_ENST00000450146.2_Silent_p.R473R|ERBB3_ENST00000415288.2_Silent_p.R1057R|ERBB3_ENST00000553131.1_Silent_p.R357R|RP11-603J24.9_ENST00000548861.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1116					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAATGTGTAGGAGCCGGAGCA	0.617													G|||	1263	0.252196	0.0734	0.3718	5008	,	,		13537	0.2887		0.4036	False		,,,				2504	0.2157				p.R1116R		Atlas-SNP	.											.	ERBB3	350	.	0			c.G3348A						PASS	.	G		620,3786	269.8+/-269.2	44,532,1627	54	52	52		3348	-0.8	1	12	dbSNP_100	52	3413,5187	503.3+/-375.9	692,2029,1579	no	coding-synonymous	ERBB3	NM_001982.3		736,2561,3206	AA,AG,GG		39.686,14.0717,31.0088		1116/1343	56494991	4033,8973	2203	4300	6503	SO:0001819	synonymous_variant	2065	exon27			GTGTAGGAGCCGG	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3348G>A	12.37:g.56494991G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	92	7	0.076087	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																			G|0.703;A|0.297	0.297	strong		0.617	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56494991	G	A	56494991	2	1	3	1	0	0	0	0	0	0	0	1	5208	1165	41	2		2	ERBB3	12	56494991	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3609506	56494991	77356904	289	728										
TIMELESS	8914	hgsc.bcm.edu	37	chr12	56814653	56814653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agttctggagccataggagcGggatagaaaagcctaaggaa	14	6	1	1	rs2291739	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:56814653G>A	ENST00000553532.1	-	25	3203	c.3053C>T	c.(3052-3054)cCg>cTg	p.P1018L	TIMELESS_ENST00000229201.4_Missense_Mutation_p.P1017L|TIMELESS_ENST00000554616.1_Missense_Mutation_p.P515L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATAGGAGCGGGATAGAAAA	0.532													G|||	1961	0.391573	0.3124	0.3703	5008	,	,		19667	0.2768		0.5636	False		,,,				2504	0.455				p.P1018L		Atlas-SNP	.											.	TIMELESS	107	.	0			c.C3053T						PASS	.	G	LEU/PRO	1561,2845	490.8+/-361.9	285,991,927	85	86	85		3053	5.4	0.9	12	dbSNP_100	85	4786,3814	612.1+/-395.9	1319,2148,833	yes	missense	TIMELESS	NM_003920.3	98	1604,3139,1760	AA,AG,GG		44.3488,35.429,48.8006	possibly-damaging	1018/1209	56814653	6347,6659	2203	4300	6503	SO:0001583	missense	8914	exon25			AGGAGCGGGATAG	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3053C>T	12.37:g.56814653G>A	ENSP00000450607:p.Pro1018Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	88	5	0.0568182	NM_003920		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	912	0.4175824175824176	157	0.31910569105691056	144	0.39779005524861877	185	0.32342657342657344	426	0.5620052770448549	G	18.07	3.541190	0.65085	0.35429	0.556512	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.59364	2.69;2.69;0.27	5.4	5.4	0.78164	Timeless C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.63843	1.955	0.09310	P	0.99999396782	D	0.89917	1.0	D	0.72338	0.977	T	0.51379	-0.8713	9	0.54805	T	0.06	-20.2551	18.3181	0.90227	0.0:0.0:1.0:0.0	rs2291739;rs11551824;rs17118587;rs58784244;rs2291739	1018	Q9UNS1	TIM_HUMAN	L	1017;1018;515	ENSP00000229201:P1017L;ENSP00000450607:P1018L;ENSP00000450848:P515L	ENSP00000229201:P1018L	P	-	2	0	TIMELESS	55100920	1.000000	0.71417	0.907000	0.35723	0.019000	0.09904	9.170000	0.94795	2.708000	0.92522	0.561000	0.74099	CCG	G|0.548;A|0.452	0.452	strong		0.532	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		A	56814653	G	A	56814653	3	1	3	1	0	0	0	0	1	0	0	0	15901	1116	39	1	593	1	TIMELESS	12	56814653	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	319662	56814653	77037242	290	729										
USP15	9958	hgsc.bcm.edu	37	chr12	62785663	62785663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tattttgatgaaaatgctgcTgaggtaagtcatcactcact	8	7	3	3	rs11174457	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:62785663T>C	ENST00000280377.5	+	17	2359	c.2301T>C	c.(2299-2301)gcT>gcC	p.A767A	USP15_ENST00000393654.3_Silent_p.A742A|USP15_ENST00000353364.3_Silent_p.A738A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	767	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAATGCTGCTGAGGTAAGTC	0.318													T|||	302	0.0603035	0.0635	0.0836	5008	,	,		15367	0.006		0.0875	False		,,,				2504	0.0675				p.A767A	Melanoma(181;615 2041 39364 49691 50001)	Atlas-SNP	.											USP15,NS,carcinoma,0,1	USP15	105	1	0			c.T2301C						scavenged	.	T		249,4153	138.8+/-174.5	6,237,1958	65	63	63		2214	0.4	1	12	dbSNP_120	63	707,7877	169.3+/-220.7	33,641,3618	no	coding-synonymous	USP15	NM_006313.1		39,878,5576	CC,CT,TT		8.2363,5.6565,7.3618		738/953	62785663	956,12030	2201	4292	6493	SO:0001819	synonymous_variant	9958	exon17			TGCTGCTGAGGTA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2301T>C	12.37:g.62785663T>C		Somatic	447	1	0.00223714		WXS	Illumina HiSeq	Phase_I	591	6	0.0101523	NM_001252078	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	CCDS58251.1																																																																																			T|0.933;C|0.067	0.067	strong		0.318	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62785663	T	C	62785663	2	2	3	1	0	0	0	0	0	0	0	1	17043	1567	55	3		3	USP15	12	62785663	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	5971010	62785663	71066232	291	730										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	63954304	63954304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tatccttctcagttaaccttTaatactctgtacacactatt	2	11	2	0	rs1054891	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:63954304T>C	ENST00000324472.4	-	22	2448	c.2265A>G	c.(2263-2265)ttA>ttG	p.L755L	DPY19L2_ENST00000413230.2_Silent_p.L202L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	755					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGTTAACCTTTAATACTCTGT	0.418													N|||	2174	0.434105	0.7057	0.4568	5008	,	,		16369	0.2857		0.4245	False		,,,				2504	0.2137				p.L755L		Atlas-SNP	.											DPY19L2,colon,carcinoma,0,1	DPY19L2	97	1	0			c.A2265G						scavenged	.	C		2776,1630	500.0+/-364.6	884,1008,311	85	80	82		2265	-1.3	0.3	12	dbSNP_86	82	3491,5109	633.6+/-398.7	694,2103,1503	no	coding-synonymous	DPY19L2	NM_173812.4		1578,3111,1814	CC,CT,TT		40.593,36.995,48.1855		755/759	63954304	6267,6739	2203	4300	6503	SO:0001819	synonymous_variant	283417	exon22			AACCTTTAATACT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2265A>G	12.37:g.63954304T>C		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	271	5	0.0184502	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	CCDS31851.1																																																																																			T|0.532;C|0.468	0.468	strong		0.418	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	63954304	T	C	63954304	2	2	3	1	0	0	0	0	0	0	0	1	4741	1751	61	2		2	DPY19L2	12	63954304	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1168641	63954304	69897591	292	731										
VEZT	55591	hgsc.bcm.edu	37	chr12	95660182	95660182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcttgctcgttatgcttcccActtggtggattgtgtcttcc	10	11	1	0	rs17855933	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:95660182A>G	ENST00000436874.1	+	5	589	c.484A>G	c.(484-486)Act>Gct	p.T162A	VEZT_ENST00000261219.6_Missense_Mutation_p.T114A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	162			T -> A (in dbSNP:rs17855933).		chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TATGCTTCCCACTTGGTGGAT	0.418													A|||	362	0.0722843	0.084	0.0893	5008	,	,		16651	0.001		0.1074	False		,,,				2504	0.0818				p.T162A		Atlas-SNP	.											.	VEZT	106	.	0			c.A484G						PASS	.	A	ALA/THR	283,3519		10,263,1628	295	282	286		484	2.9	1	12	dbSNP_123	286	860,7408		46,768,3320	yes	missense	VEZT	NM_017599.3	58	56,1031,4948	GG,GA,AA		10.4015,7.4435,9.4698	possibly-damaging	162/780	95660182	1143,10927	1901	4134	6035	SO:0001583	missense	55591	exon5			CTTCCCACTTGGT	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.484A>G	12.37:g.95660182A>G	ENSP00000410083:p.Thr162Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	5	0.0515464	NM_017599	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	153	0.07005494505494506	34	0.06910569105691057	35	0.09668508287292818	1	0.0017482517482517483	83	0.10949868073878628	A	3.498	-0.102452	0.06967	0.074435	0.104015	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.45668	0.99;0.94;0.99;0.89;0.94;0.99	5.39	2.88	0.33553	.	0.295485	0.37012	N	0.002285	T	0.00356	0.0011	N	0.12182	0.205	0.35718	P	0.18310700000000002	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.09377	0.003;0.004;0.003;0.003	T	0.05209	-1.0899	9	0.23891	T	0.37	-14.0809	4.0882	0.09957	0.497:0.0:0.1039:0.3991	rs17855933;rs17855933	162;162;114;114	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	A	162;132;114;181;84;114;162	ENSP00000410083:T162A;ENSP00000449591:T132A;ENSP00000261219:T114A;ENSP00000449701:T181A;ENSP00000447151:T84A;ENSP00000380894:T114A	ENSP00000261219:T114A	T	+	1	0	VEZT	94184313	0.747000	0.28283	0.991000	0.47740	0.024000	0.10985	1.007000	0.29860	2.023000	0.59567	0.528000	0.53228	ACT	A|0.925;G|0.075	0.075	strong		0.418	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95660182	A	G	95660182	3	3	3	1	0	0	0	0	1	0	0	0	17153	159	6	2	502	2	VEZT	12	95660182	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	31705878	95660182	38191713	293	732										
DEPDC4	120863	hgsc.bcm.edu	37	chr12	100657658	100657658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	catagctgagtagcttgaaaAggaccagagcatcctgaaaa	10	8	0	4			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:100657658A>G	ENST00000416321.1	-	2	173	c.171T>C	c.(169-171)ccT>ccC	p.P57P		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	57					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TAGCTTGAAAAGGACCAGAGC	0.333																																					p.P57P		Atlas-SNP	.											DEPDC4,NS,malignant_melanoma,-2,1	DEPDC4	34	1	0			c.T171C						scavenged	.						77	76	76					12																	100657658		2203	4300	6503	SO:0001819	synonymous_variant	120863	exon2			TTGAAAAGGACCA	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.171T>C	12.37:g.100657658A>G		Somatic	319	1	0.0031348		WXS	Illumina HiSeq	Phase_I	313	4	0.0127796	NM_152317	Q496C8|Q96BW0	Silent	SNP	ENST00000416321.1	37	CCDS9075.1																																																																																			.	.	none		0.333	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		G	100657658	A	G	100657658	2	3	3	1	0	0	0	0	0	0	0	1	4441	59	3	3		3	DEPDC4	12	100657658	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	4997476	100657658	33194237	294	733										
CMKLR1	1240	hgsc.bcm.edu	37	chr12	108686008	108686008	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cggttgcgctgcagtttgcaCacgatggtgaggtagcaagc	15	9	0	1	rs1057401	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:108686008C>G	ENST00000312143.7	-	3	1095	c.732G>C	c.(730-732)gtG>gtC	p.V244V	CMKLR1_ENST00000412676.1_Silent_p.V244V|CMKLR1_ENST00000552995.1_Silent_p.V242V|CMKLR1_ENST00000550402.1_Silent_p.V244V|CMKLR1_ENST00000397688.2_Silent_p.V242V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	244					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCAGTTTGCACACGATGGTGA	0.552													G|||	1855	0.370407	0.6513	0.3156	5008	,	,		21024	0.0119		0.4473	False		,,,				2504	0.32				p.V244V		Atlas-SNP	.											CMKLR1,NS,carcinoma,-2,1	CMKLR1	67	1	0			c.G732C						scavenged	.		,,,	2563,1707		803,957,375	69	76	74		732,732,732,726	4.5	1	12	dbSNP_86	74	3973,4507		948,2077,1215	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CMKLR1	NM_001142343.1,NM_001142344.1,NM_001142345.1,NM_004072.2	,,,	1751,3034,1590	GG,GC,CC		46.8514,39.9766,48.7373	,,,	244/374,244/374,244/374,242/372	108686008	6536,6214	2135	4240	6375	SO:0001819	synonymous_variant	1240	exon3			TTTGCACACGATG	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.732G>C	12.37:g.108686008C>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	67	2	0.0298507	NM_001142344	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	CCDS44965.1																																																																																			C|0.627;G|0.373	0.373	strong		0.552	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			G	108686008	C	G	108686008	2	3	3	1	0	0	0	0	0	0	0	1	3579	465	17	4		4	CMKLR1	12	108686008	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	8028350	108686008	25165887	295	734										
MVK	4598	hgsc.bcm.edu	37	chr12	110019233	110019233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctggatatcgtagtgtggtcGgagctgccccccggggcggg	18	11	0	0	rs34368092|rs104895310	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:110019233G>A	ENST00000228510.3	+	5	481	c.405G>A	c.(403-405)tcG>tcA	p.S135S	MVK_ENST00000539696.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000539575.1_Intron|MVK_ENST00000535044.1_Intron|MVK_ENST00000392727.3_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	135			S -> L (in HIDS). {ECO:0000269|PubMed:11313768}.		cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TAGTGTGGTCGGAGCTGCCCC	0.662													G|||	161	0.0321486	0.0499	0.0389	5008	,	,		17071	0.0		0.0616	False		,,,				2504	0.0061				p.S135S		Atlas-SNP	.											MVK,colon,carcinoma,+1,1	MVK	42	1	0			c.G405A						PASS	.	G	,	164,4242	109.1+/-147.4	1,162,2040	68	69	68		405,405	-10.3	0.1	12	dbSNP_126	68	506,8094	144.2+/-200.1	18,470,3812	no	coding-synonymous,coding-synonymous	MVK	NM_000431.2,NM_001114185.1	,	19,632,5852	AA,AG,GG		5.8837,3.7222,5.1515	,	135/397,135/397	110019233	670,12336	2203	4300	6503	SO:0001819	synonymous_variant	4598	exon5			GTGGTCGGAGCTG	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.405G>A	12.37:g.110019233G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	75	6	0.08	NM_000431		Silent	SNP	ENST00000228510.3	37	CCDS9132.1																																																																																			G|0.950;A|0.050	0.050	strong		0.662	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		A	110019233	G	A	110019233	2	1	3	1	0	0	0	0	0	0	0	1	9995	1103	39	1		1	MVK	12	110019233	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1333225	110019233	23832662	296	735										
GPR109B	8843	hgsc.bcm.edu	37	chr12	123200693	123200693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatgatgcccaggggcaggaAgaactccaggaggaacatag	15	8	0	2	rs17884481	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:123200693A>G	ENST00000528880.2	-	1	746	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	198			F -> L (in dbSNP:rs17884481). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505609, ECO:0000269|Ref.2}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AGGGGCAGGAAGAACTCCAGG	0.532													a|||	2323	0.463858	0.5008	0.4409	5008	,	,		21080	0.495		0.5716	False		,,,				2504	0.2873				p.F198L		Atlas-SNP	.											HCAR3_ENST00000528880,colon,carcinoma,0,3	HCAR3	49	3	0			c.T592C						PASS	.						81	83	82					12																	123200693		2203	4300	6503	SO:0001583	missense	8843	exon1			GCAGGAAGAACTC	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.592T>C	12.37:g.123200693A>G	ENSP00000436714:p.Phe198Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	103	6	0.0582524	NM_006018	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	CCDS53842.1	1139	0.5215201465201466	251	0.5101626016260162	169	0.46685082872928174	304	0.5314685314685315	415	0.5474934036939314	A	12.20	1.867061	0.32977	.	.	ENSG00000255398	ENST00000528880	T	0.70164	-0.46	3.41	2.2	0.27929	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.37167	P	0.09715600000000002	P	0.39782	0.688	B	0.39617	0.305	T	0.40194	-0.9576	7	0.07325	T	0.83	.	7.2126	0.25941	0.8006:0.0:0.0:0.1994	rs17884481	198	E9PI97	.	L	198	ENSP00000436714:F198L	ENSP00000436714:F198L	F	-	1	0	HCAR3	121766646	0.368000	0.25031	0.996000	0.52242	0.626000	0.37791	0.279000	0.18771	0.289000	0.22422	0.155000	0.16302	TTC	A|0.479;G|0.521	0.521	strong		0.532	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		G	123200693	A	G	123200693	3	3	3	1	0	0	0	0	1	0	0	0	6626	72	3	3	575	3	GPR109B	12	123200693	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	13181460	123200693	10651202	297	736										
GPR109B	8843	hgsc.bcm.edu	37	chr12	123200768	123200768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctgatgcacacatttgcagTgccattctggatcagcaact	9	11	2	1	rs386767126|rs1798192	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr12:123200768T>G	ENST00000528880.2	-	1	671	c.517A>C	c.(517-519)Act>Cct	p.T173P	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	173			T -> P (in dbSNP:rs1798192). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505609, ECO:0000269|Ref.2}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T173P(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	ACATTTGCAGTGCCATTCTGG	0.527													t|||	2324	0.464058	0.5008	0.4409	5008	,	,		21393	0.495		0.5716	False		,,,				2504	0.2883				p.T173P		Atlas-SNP	.											HCAR3_ENST00000528880,NS,carcinoma,0,1	HCAR3	49	1	1	Substitution - Missense(1)	stomach(1)	c.A517C						scavenged	.	T	PRO/THR	2231,2175	591.4+/-387.6	583,1065,555	99	95	96		517	-4.7	0	12	dbSNP_89	96	4921,3679	621.2+/-397.2	1410,2101,789	yes	missense	HCAR3	NM_006018.2	38	1993,3166,1344	GG,GT,TT		42.7791,49.3645,45.01	benign	173/388	123200768	7152,5854	2203	4300	6503	SO:0001583	missense	8843	exon1			TTGCAGTGCCATT	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.517A>C	12.37:g.123200768T>G	ENSP00000436714:p.Thr173Pro	Somatic	98	2	0.0204082		WXS	Illumina HiSeq	Phase_I	83	6	0.0722892	NM_006018	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	CCDS53842.1	1139	0.5215201465201466	251	0.5101626016260162	169	0.46685082872928174	304	0.5314685314685315	415	0.5474934036939314	T	0.572	-0.840675	0.02692	0.506355	0.572209	ENSG00000255398	ENST00000528880	T	0.37058	1.22	2.99	-4.69	0.03299	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.10450	0.005	T	0.45963	-0.9225	7	0.49607	T	0.09	.	5.7314	0.18042	0.0:0.6545:0.1482:0.1973	rs1798192;rs3741539;rs17883771;rs60927003;rs1798192	173	E9PI97	.	P	173	ENSP00000436714:T173P	ENSP00000436714:T173P	T	-	1	0	HCAR3	121766721	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.594000	0.05733	-1.206000	0.02641	0.155000	0.16302	ACT	T|0.481;G|0.519	0.519	strong		0.527	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		G	123200768	T	G	123200768	3	3	3	1	0	0	0	0	1	0	0	0	6626	1696	59	5	650	5	GPR109B	12	123200768	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	75	123200768	10651127	298	737										
PARP4	143	hgsc.bcm.edu	37	chr13	25052261	25052261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtggtgacagaggctgtttgCgaaactccatgcacactgtc	12	10	0	2	rs4770696	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr13:25052261C>T	ENST00000381989.3	-	13	1707	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	534	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		AGGCTGTTTGCGAAACTCCAT	0.443													.|||	2727	0.544529	0.4289	0.5677	5008	,	,		16176	0.5992		0.5	False		,,,				2504	0.6738				p.S534S		Atlas-SNP	.											PARP4,mouth,carcinoma,-1,1	PARP4	142	1	0			c.G1602A						scavenged	.	T		1900,2506	626.8+/-394.8	410,1080,713	74	65	68		1602	-0.2	0	13	dbSNP_111	68	4549,4051	557.5+/-387.1	1197,2155,948	no	coding-synonymous	PARP4	NM_006437.3		1607,3235,1661	TT,TC,CC		47.1047,43.123,49.5848		534/1725	25052261	6449,6557	2203	4300	6503	SO:0001819	synonymous_variant	143	exon13			TGTTTGCGAAACT	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.1602G>A	13.37:g.25052261C>T		Somatic	101	3	0.029703		WXS	Illumina HiSeq	Phase_I	102	3	0.0294118	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																			C|0.494;T|0.506	0.506	strong		0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25052261	C	T	25052261	2	4	3	1	0	0	0	0	0	0	0	1	11463	755	27	1		1	PARP4	13	25052261	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		25052261	90117617	299	738										
B3GALTL	145173	hgsc.bcm.edu	37	chr13	31891810	31891810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggtggctacagctacatcaCgggaggaggagggtaactat	15	7	1	0	rs144117014		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr13:31891810C>T	ENST00000343307.4	+	13	1321	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	391					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)		AGCTACATCACGGGAGGAGGA	0.522																																					p.T391M		Atlas-SNP	.											.	B3GALTL	48	.	0			c.C1172T						PASS	.	C	MET/THR	0,4406		0,0,2203	107	100	102		1172	4.9	0.9	13	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	B3GALTL	NM_194318.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	391/499	31891810	2,13004	2203	4300	6503	SO:0001583	missense	145173	exon13			ACATCACGGGAGG	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.1172C>T	13.37:g.31891810C>T	ENSP00000343002:p.Thr391Met	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	39	14	0.358974	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700733	0.88924	0.0	2.33E-4	ENSG00000187676	ENST00000343307	T	0.72394	-0.65	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81430	-0.0936	10	0.39692	T	0.17	-18.4961	18.5122	0.90921	0.0:1.0:0.0:0.0	.	391	Q6Y288	B3GLT_HUMAN	M	391	ENSP00000343002:T391M	ENSP00000343002:T391M	T	+	2	0	B3GALTL	30789810	1.000000	0.71417	0.922000	0.36590	0.873000	0.50193	7.264000	0.78432	2.432000	0.82394	0.650000	0.86243	ACG	C|1.000;T|0.000	0.000	weak		0.522	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		T	31891810	C	T	31891810	3	4	3	1	0	0	0	0	1	0	0	0	1252	536	19	1	1222	1	B3GALTL	13	31891810	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6839549	31891810	83278068	300	739										
CKAP2	26586	hgsc.bcm.edu	37	chr13	53047966	53047966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	taaatgtattttctataggaGaaaatatggagaagtcttgt	9	2	2	2	rs41292820	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr13:53047966G>A	ENST00000378037.5	+	8	1642	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	CKAP2_ENST00000258607.5_Missense_Mutation_p.E517K|CKAP2_ENST00000490903.1_Missense_Mutation_p.E469K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTCTATAGGAGAAAATATGGA	0.333													g|||	13	0.00259585	0.0	0.0072	5008	,	,		15915	0.0		0.008	False		,,,				2504	0.0				p.E518K		Atlas-SNP	.											.	CKAP2	51	.	0			c.G1552A						PASS	.	G	LYS/GLU,LYS/GLU	4,4402		0,4,2199	61	70	67		1552,1549	2.3	0.7	13	dbSNP_127	67	53,8545		0,53,4246	yes	missense,missense	CKAP2	NM_001098525.1,NM_018204.3	56,56	0,57,6445	AA,AG,GG		0.6164,0.0908,0.4383	possibly-damaging,possibly-damaging	518/684,517/683	53047966	57,12947	2203	4299	6502	SO:0001583	missense	26586	exon8			ATAGGAGAAAATA	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1552G>A	13.37:g.53047966G>A	ENSP00000367276:p.Glu518Lys	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	182	8	0.043956	NM_001098525		Missense_Mutation	SNP	ENST00000378037.5	37	CCDS41893.1	10	0.004578754578754579	0	0.0	4	0.011049723756906077	0	0.0	6	0.0079155672823219	.	12.42	1.931190	0.34096	9.08E-4	0.006164	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.23754	1.89;1.89;1.89	5.91	2.29	0.28610	.	0.387988	0.26349	N	0.024882	T	0.14013	0.0339	L	0.48877	1.53	0.26638	N	0.97234	B;B;B	0.27351	0.176;0.005;0.011	B;B;B	0.24541	0.054;0.004;0.009	T	0.15037	-1.0451	10	0.66056	D	0.02	-5.4027	6.0479	0.19770	0.2228:0.1351:0.6421:0.0	rs41292820	469;518;517	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	K	517;518;469	ENSP00000258607:E517K;ENSP00000367276:E518K;ENSP00000417830:E469K	ENSP00000258607:E517K	E	+	1	0	CKAP2	51945967	0.832000	0.29368	0.722000	0.30670	0.626000	0.37791	0.189000	0.17037	0.119000	0.18210	0.655000	0.94253	GAA	G|0.996;A|0.004	0.004	strong		0.333	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			A	53047966	G	A	53047966	3	1	3	1	0	0	0	0	1	0	0	0	3442	943	33	2	1582	2	CKAP2	13	53047966	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	21156156	53047966	62121912	301	740										
PIBF1	10464	hgsc.bcm.edu	37	chr13	73409508	73409509	+	Splice_Site	INS	-	-	AA													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtatgaacgagaaaacaggtINSaaaaaaaaaaaaatgcttgt					rs200683940		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr13:73409508_73409509insAA	ENST00000326291.6	+	9	1561		c.e9+2			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome (GO:0005813)		p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGAAAACAGGTAAAAAAAAAAA	0.262																																					.		Pindel	.											.	PIBF1	65	.	1	Unknown(1)	ovary(1)	c.1223+2->AA						PASS	.																																			SO:0001630	splice_region_variant	10464	exon9			.	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1223+2->AA	13.37:g.73409517_73409518dupAA		Somatic	0	0	0		WXS	Illumina HiSeq	Phase_I	23	23	1	NM_006346	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Splice_Site	INS	ENST00000326291.6	37	CCDS31991.1																																																																																			.	.	weak		0.262	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346	Intron	AA	73409509	-	AA	73409508	8	5	3	1	0	1	1	0	0	0	1	0	11879	1652	57	0	1255	0	PIBF1	13	73409508	Splice_Site	INS	-	TCGA-FA-A4XK-01A-11D-A31X-10	20361542	73409508	41760370	302	741										
SUPT16H	11198	hgsc.bcm.edu	37	chr14	21831419	21831419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctttctgtaagtaatgctgcCcgagaacctcttcccaaaag	7	12	2	1	rs61746713	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:21831419C>T	ENST00000216297.2	-	12	1706	c.1368G>A	c.(1366-1368)cgG>cgA	p.R456R		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	456					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTAATGCTGCCCGAGAACCTC	0.373													C|||	227	0.0453275	0.0076	0.0389	5008	,	,		18562	0.0		0.1203	False		,,,				2504	0.0706				p.R456R		Atlas-SNP	.											SUPT16H,NS,carcinoma,-1,1	SUPT16H	84	1	0			c.G1368A						scavenged	.	C		122,4284	88.2+/-126.9	4,114,2085	80	82	81		1368	-0.9	1	14	dbSNP_129	81	1025,7573	218.1+/-256.6	57,911,3331	no	coding-synonymous	SUPT16H	NM_007192.3		61,1025,5416	TT,TC,CC		11.9214,2.769,8.8204		456/1048	21831419	1147,11857	2203	4299	6502	SO:0001819	synonymous_variant	11198	exon12			TGCTGCCCGAGAA	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1368G>A	14.37:g.21831419C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	3	0.0333333	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																			C|0.925;T|0.075	0.075	strong		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			T	21831419	C	T	21831419	2	4	3	1	0	0	0	0	0	0	0	1	15393	610	22	2		2	SUPT16H	14	21831419	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		21831419	85518121	303	742										
SALL2	6297	hgsc.bcm.edu	37	chr14	21991626	21991626	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgctgctgggggaaactccCtgccccggagactgtagatt	13	12	0	2	rs1263810	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:21991626C>G	ENST00000327430.3	-	2	2530	c.2236G>C	c.(2236-2238)Ggg>Cgg	p.G746R	SALL2_ENST00000450879.2_Missense_Mutation_p.G609R|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	746			G -> R (in dbSNP:rs1263810). {ECO:0000269|PubMed:8975705, ECO:0000269|PubMed:9205841, ECO:0000269|Ref.6}.		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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGAAACTCCCTGCCCCGGAG	0.597													C|||	1223	0.244209	0.1059	0.1556	5008	,	,		18594	0.2579		0.3549	False		,,,				2504	0.3661				p.G746R		Atlas-SNP	.											.	SALL2	95	.	0			c.G2236C						PASS	.	C	ARG/GLY	650,3756	277.5+/-273.7	51,548,1604	56	49	51		2236	4.8	1	14	dbSNP_87	51	2904,5696	453.1+/-363.1	496,1912,1892	yes	missense	SALL2	NM_005407.1	125	547,2460,3496	GG,GC,CC		33.7674,14.7526,27.3258	probably-damaging	746/1008	21991626	3554,9452	2203	4300	6503	SO:0001583	missense	6297	exon2			AACTCCCTGCCCC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2236G>C	14.37:g.21991626C>G	ENSP00000333537:p.Gly746Arg	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	54	4	0.0740741	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	552|552	0.25274725274725274|0.25274725274725274	52|52	0.10569105691056911|0.10569105691056911	70|70	0.19337016574585636|0.19337016574585636	157|157	0.2744755244755245|0.2744755244755245	273|273	0.36015831134564646|0.36015831134564646	C|C	15.46|15.46	2.840915|2.840915	0.51057|0.51057	0.147526|0.147526	0.337674|0.337674	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04551|.	3.66;3.6|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.39687|.	N|.	0.001296|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.27053|0.27053	0.805|0.805	0.24034|0.24034	P|P	0.99610114|0.99610114	B;B;B|.	0.17667|.	0.023;0.023;0.023|.	B;B;B|.	0.18263|.	0.021;0.021;0.021|.	T|T	0.43861|0.43861	-0.9365|-0.9365	9|4	0.38643|.	T|.	0.18|.	-27.9051|-27.9051	8.8209|8.8209	0.35025|0.35025	0.0:0.8999:0.0:0.1001|0.0:0.8999:0.0:0.1001	rs1263810;rs1754631;rs17792718;rs1263810|rs1263810;rs1754631;rs17792718;rs1263810	609;507;746|.	E7EW59;B4DFD9;Q9Y467|.	.;.;SALL2_HUMAN|.	R|H	746;609|604	ENSP00000333537:G746R;ENSP00000396773:G609R|.	ENSP00000333537:G746R|.	G|Q	-|-	1|3	0|2	SALL2|SALL2	21061466|21061466	0.008000|0.008000	0.16893|0.16893	0.964000|0.964000	0.40570|0.40570	0.128000|0.128000	0.20619|0.20619	0.893000|0.893000	0.28336|0.28336	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	GGG|CAG	C|0.711;G|0.289	0.289	strong		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		G	21991626	C	G	21991626	3	3	3	1	0	0	0	0	1	0	0	0	13811	681	24	4	791	4	SALL2	14	21991626	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	160207	21991626	85357914	304	743										
CTAGE5	4253	hgsc.bcm.edu	37	chr14	39818145	39818145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctcgagattattttccaccaGgggatttcccaggtccacca	8	13	0	1	rs1060878	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:39818145G>A	ENST00000280083.3	+	23	2526	c.2212G>A	c.(2212-2214)Ggg>Agg	p.G738R	CTAGE5_ENST00000348007.3_Missense_Mutation_p.G695R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.G663R|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.G1273R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.G726R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.G743R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.G709R|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000553352.1_Missense_Mutation_p.G709R|CTAGE5_ENST00000341502.5_Missense_Mutation_p.G738R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.G658R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.G709R			O15320	CTGE5_HUMAN	CTAGE family, member 5	738	Pro-rich.		G -> R (in dbSNP:rs1060878). {ECO:0000269|PubMed:12839582, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9356211}.		positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTTCCACCAGGGGATTTCCC	0.438													A|||	1556	0.310703	0.2973	0.2839	5008	,	,		17576	0.1587		0.3837	False		,,,				2504	0.4294				p.G743R		Atlas-SNP	.											.	CTAGE5	75	.	0			c.G2227A						PASS	.	A	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1388,3016		214,960,1028	69	75	73		2212,2176,2083,2125	3.8	1	14	dbSNP_86	73	3173,5425		612,1949,1738	yes	missense,missense,missense,missense	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	125,125,125,125	826,2909,2766	AA,AG,GG		36.9039,31.5168,35.0792	benign,benign,benign,benign	738/805,726/793,695/762,709/776	39818145	4561,8441	2202	4299	6501	SO:0001583	missense	4253	exon23			CCACCAGGGGATT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2212G>A	14.37:g.39818145G>A	ENSP00000280083:p.Gly738Arg	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	219	14	0.0639269	NM_001247989	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	642	0.29395604395604397	156	0.3170731707317073	101	0.27900552486187846	95	0.1660839160839161	290	0.38258575197889183	A	0.424	-0.907019	0.02434	0.315168	0.369039	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.95	3.81	0.43845	.	0.000000	0.36444	N	0.002599	T	0.00012	0.0000	N	0.00034	-2.56	0.58432	P	2.9999999999752447E-6	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41805	-0.9488	8	.	.	.	.	4.5122	0.11917	0.6562:0.1657:0.1781:0.0	rs1060878;rs1804861;rs3201810;rs57745043	743;695;738;666;726	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	R	1273;726;658;709;738;743;738;663;695;709	ENSP00000452252:G1273R;ENSP00000343897:G726R;ENSP00000450869:G658R;ENSP00000379468:G709R;ENSP00000339286:G738R;ENSP00000379462:G743R;ENSP00000280083:G738R;ENSP00000452562:G663R;ENSP00000343912:G695R;ENSP00000450449:G709R	.	G	+	1	0	CTAGE5;RP11-407N17.3	38887896	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	1.555000	0.36277	0.329000	0.23460	-0.254000	0.11334	GGG	G|0.654;A|0.346	0.346	strong		0.438	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		A	39818145	G	A	39818145	3	1	3	1	0	0	0	0	1	0	0	0	3994	1000	35	2	2333	2	CTAGE5	14	39818145	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	17826519	39818145	67531395	305	744										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818517	55818517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agacaaagaccagccttccaTtttaaactcctgtgaagacc	6	12	0	4	rs1045002	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:55818517T>A	ENST00000313833.4	+	2	1654	c.1409T>A	c.(1408-1410)aTt>aAt	p.I470N	FBXO34_ENST00000440021.1_Missense_Mutation_p.I470N	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	470			I -> N (in dbSNP:rs1045002). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.					p.I470N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCCTTCCATTTTAAACTCC	0.423													A|||	1661	0.331669	0.2322	0.3098	5008	,	,		20331	0.3185		0.4245	False		,,,				2504	0.3998				p.I470N		Atlas-SNP	.											FBXO34,NS,carcinoma,0,1	FBXO34	61	1	1	Substitution - Missense(1)	stomach(1)	c.T1409A						scavenged	.	A	ASN/ILE,ASN/ILE	1147,3259	713.6+/-408.3	154,839,1210	115	112	113		1409,1409	-0.8	0	14	dbSNP_86	113	3621,4979	624.3+/-397.6	780,2061,1459	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	149,149	934,2900,2669	AA,AT,TT		42.1047,26.0327,36.66	benign,benign	470/712,470/712	55818517	4768,8238	2203	4300	6503	SO:0001583	missense	55030	exon2			CTTCCATTTTAAA	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1409T>A	14.37:g.55818517T>A	ENSP00000313159:p.Ile470Asn	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	176	6	0.0340909	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	748	0.3424908424908425	118	0.23983739837398374	116	0.32044198895027626	191	0.3339160839160839	323	0.4261213720316623	A	0.013	-1.642727	0.00792	0.260327	0.421047	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16457	2.34;2.34	5.48	-0.84	0.10755	.	1.461070	0.04686	N	0.413270	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.12837	0.008	T	0.48139	-0.9061	9	0.15499	T	0.54	-0.416	4.9015	0.13777	0.1197:0.4841:0.1548:0.2414	rs1045002;rs3168901;rs3742568;rs17674186;rs60147901;rs1045002	470	Q9NWN3	FBX34_HUMAN	N	470	ENSP00000313159:I470N;ENSP00000394117:I470N	ENSP00000313159:I470N	I	+	2	0	FBXO34	54888270	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.270000	0.08584	-0.639000	0.05502	-1.546000	0.00904	ATT	A|0.366;N|0.000	0.366	strong		0.423	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			A	55818517	T	A	55818517	3	1	3	1	0	0	0	0	1	0	0	0	5744	1493	52	5	1411	5	FBXO34	14	55818517	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	16000372	55818517	51531023	306	745										
KIAA0831	22863	hgsc.bcm.edu	37	chr14	55864130	55864130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttgctcttaagtcggcttaAcctttccttcttgtcgataa	6	11	2	0	rs8003279	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:55864130A>G	ENST00000247178.5	-	2	279	c.244T>C	c.(244-246)Tta>Cta	p.L82L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	82					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGTCGGCTTAACCTTTCCTTC	0.333													A|||	1045	0.208666	0.1142	0.1902	5008	,	,		21063	0.1617		0.329	False		,,,				2504	0.274				p.L82L		Atlas-SNP	.											.	ATG14	36	.	0			c.T244C						PASS	.	A		657,3747	277.8+/-273.9	45,567,1590	137	114	122		244	2.1	1	14	dbSNP_116	122	2762,5836	435.0+/-357.9	469,1824,2006	no	coding-synonymous	ATG14	NM_014924.4		514,2391,3596	GG,GA,AA		32.1237,14.9183,26.296		82/493	55864130	3419,9583	2202	4299	6501	SO:0001819	synonymous_variant	22863	exon2			GGCTTAACCTTTC	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.244T>C	14.37:g.55864130A>G		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	128	8	0.0625	NM_014924	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	CCDS32087.1																																																																																			A|0.760;G|0.240	0.240	strong		0.333	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		G	55864130	A	G	55864130	2	3	3	1	0	0	0	0	0	0	0	1	8195	40	2	2		2	KIAA0831	14	55864130	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	45613	55864130	51485410	307	746										
KIAA0831	22863	hgsc.bcm.edu	37	chr14	55864146	55864146	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttaacctttccttcttgtcGataaacctgtaacaaaaaaa	3	10	1	0	rs61743178	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:55864146G>A	ENST00000247178.5	-	2	263	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	76					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCTTCTTGTCGATAAACCTGT	0.338													A|||	125	0.0249601	0.0038	0.0231	5008	,	,		20578	0.003		0.0437	False		,,,				2504	0.0583				p.I76I		Atlas-SNP	.											.	ATG14	36	.	0			c.C228T						PASS	.	A		50,4354	817.7+/-416.3	0,50,2152	116	99	105		228	3	1	14	dbSNP_129	105	472,8126	796.2+/-407.5	14,444,3841	no	coding-synonymous	ATG14	NM_014924.4		14,494,5993	AA,AG,GG		5.4896,1.1353,4.0148		76/493	55864146	522,12480	2202	4299	6501	SO:0001819	synonymous_variant	22863	exon2			CTTGTCGATAAAC	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.228C>T	14.37:g.55864146G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_014924	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	CCDS32087.1																																																																																			G|0.966;A|0.034	0.034	strong		0.338	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		A	55864146	G	A	55864146	2	1	3	1	0	0	0	0	0	0	0	1	8195	1048	37	1		1	KIAA0831	14	55864146	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	16	55864146	51485394	308	747										
SLC38A6	145389	hgsc.bcm.edu	37	chr14	61550378	61550378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggcctcaggagaaccaaacGtgtccacaccttgatcttgc	9	13	2	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:61550378G>A	ENST00000354886.2	+	17	1678	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	SLC38A6_ENST00000456840.2_Missense_Mutation_p.V484M	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		agaaccaaacgtgtccacacc	0.478																																					p.R505H		Atlas-SNP	.											.	SLC38A6	87	.	0			c.G1514A						PASS	.																																			SO:0001583	missense	145389	exon17			CCAAACGTGTCCA	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000354886.2:c.1514G>A	14.37:g.61550378G>A	ENSP00000346959:p.Arg505His	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	24	15	0.625	NM_001172702	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000354886.2	37	CCDS53900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.89|14.89	2.670972|2.670972	0.47781|0.47781	.|.	.|.	ENSG00000139974|ENSG00000139974	ENST00000354886;ENST00000451406|ENST00000456840	T;T|T	0.06294|0.06608	3.32;3.32|3.28	2.8|2.8	-0.176|-0.176	0.13311|0.13311	.|.	.|.	.|.	.|.	.|.	T|T	0.04137|0.04137	0.0115|0.0115	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.44298|0.44298	-0.9337|-0.9337	8|8	0.87932|0.56958	D|D	0|0.05	.|.	0.479|0.479	0.00544|0.00544	0.2013:0.35:0.1969:0.2518|0.2013:0.35:0.1969:0.2518	.|.	505|484	Q8IZM9-2|E7ETF2	.|.	H|M	505;500|484	ENSP00000346959:R505H;ENSP00000395851:R500H|ENSP00000413863:V484M	ENSP00000346959:R505H|ENSP00000413863:V484M	R|V	+|+	2|1	0|0	SLC38A6|SLC38A6	60620131|60620131	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.119000|-0.119000	0.10676|0.10676	-0.303000|-0.303000	0.08856|0.08856	-1.816000|-1.816000	0.00601|0.00601	CGT|GTG	.	.	none		0.478	SLC38A6-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	61550378	G	A	61550378	3	1	3	1	0	0	0	0	1	0	0	0	14608	1145	40	1	1665	1	SLC38A6	14	61550378	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5686232	61550378	45799162	309	748										
SNAPC1	6617	hgsc.bcm.edu	37	chr14	62234030	62234030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttatatttttaggaagctacGactagacagagcatttcact	7	7	1	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:62234030G>T	ENST00000216294.4	+	3	493	c.389G>T	c.(388-390)cGa>cTa	p.R130L	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	130	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGGAAGCTACGACTAGACAGA	0.333																																					p.R130L	NSCLC(27;223 907 37180 39193 46568)	Atlas-SNP	.											SNAPC1,colon,carcinoma,0,1	SNAPC1	32	1	0			c.G389T						scavenged	.						95	95	95					14																	62234030		2203	4300	6503	SO:0001583	missense	6617	exon3			AGCTACGACTAGA	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.389G>T	14.37:g.62234030G>T	ENSP00000216294:p.Arg130Leu	Somatic	182	2	0.010989		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_003082		Missense_Mutation	SNP	ENST00000216294.4	37	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852236	0.51270	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.87	5.87	0.94306	.	0.106538	0.64402	D	0.000004	T	0.58736	0.2143	L	0.29908	0.895	0.48762	D	0.999708	P	0.47604	0.898	P	0.55455	0.776	T	0.46555	-0.9183	9	0.02654	T	1	-0.0044	20.5827	0.99408	0.0:0.0:1.0:0.0	.	130	Q16533	SNPC1_HUMAN	L	130	.	ENSP00000216294:R130L	R	+	2	0	SNAPC1	61303783	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	5.101000	0.64566	2.941000	0.99782	0.655000	0.94253	CGA	.	.	none		0.333	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		T	62234030	G	T	62234030	3	4	3	1	0	0	0	0	1	0	0	0	14834	1058	37	4	399	4	SNAPC1	14	62234030	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	683652	62234030	45115510	310	749										
PLEKHH1	57475	hgsc.bcm.edu	37	chr14	68045935	68045935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagcgggaagccaggccatcGcgcatggaagtggtgtccat	16	10	0	0	rs6573781	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:68045935G>A	ENST00000329153.5	+	21	3066	c.2934G>A	c.(2932-2934)tcG>tcA	p.S978S	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	978	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCAGGCCATCGCGCATGGAAG	0.597													G|||	3240	0.646965	0.5862	0.7579	5008	,	,		19141	0.503		0.7982	False		,,,				2504	0.6431				p.S978S		Atlas-SNP	.											.	PLEKHH1	118	.	0			c.G2934A						PASS	.	G		2760,1458		894,972,243	69	77	74		2934	-10.5	0	14	dbSNP_116	74	6697,1731		2676,1345,193	yes	coding-synonymous	PLEKHH1	NM_020715.2		3570,2317,436	AA,AG,GG		20.5387,34.5661,25.2175		978/1365	68045935	9457,3189	2109	4214	6323	SO:0001819	synonymous_variant	57475	exon21			GCCATCGCGCATG	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2934G>A	14.37:g.68045935G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_020715	A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	CCDS45128.1																																																																																			G|0.332;A|0.668	0.668	strong		0.597	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68045935	G	A	68045935	2	1	3	1	0	0	0	0	0	0	0	1	12076	1074	38	1		1	PLEKHH1	14	68045935	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5811905	68045935	39303605	311	750										
DCAF4	26094	hgsc.bcm.edu	37	chr14	73404752	73404752	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agccaccagcagaacccttgGttcagactccgtgattctga	9	13	2	4	rs2302588	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:73404752G>C	ENST00000358377.2	+	2	286	c.66G>C	c.(64-66)tgG>tgC	p.W22C	DCAF4_ENST00000509153.1_Missense_Mutation_p.W22C|DCAF4_ENST00000555042.1_Missense_Mutation_p.W22C|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000353777.3_Missense_Mutation_p.W22C|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000394234.2_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	22			W -> C (in dbSNP:rs2302588).		protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AGAACCCTTGGTTCAGACTCC	0.473													G|||	471	0.0940495	0.0545	0.0677	5008	,	,		18716	0.1885		0.1133	False		,,,				2504	0.0491				p.W22C		Atlas-SNP	.											.	DCAF4	40	.	0			c.G66C						PASS	.	G	CYS/TRP,ALA/GLY,CYS/TRP,,CYS/TRP	258,4148	146.9+/-181.5	6,246,1951	124	127	126		66,32,66,,66	1.6	0	14	dbSNP_100	126	900,7700	201.3+/-244.8	51,798,3451	yes	missense,missense,missense,intron,missense	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	215,60,215,,215	57,1044,5402	CC,CG,GG		10.4651,5.8557,8.9036	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	22/490,11/475,22/496,,22/436	73404752	1158,11848	2203	4300	6503	SO:0001583	missense	26094	exon2			CCCTTGGTTCAGA	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.66G>C	14.37:g.73404752G>C	ENSP00000351147:p.Trp22Cys	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	24	4	0.166667	NM_001163508	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	CCDS9809.1	249	0.11401098901098901	32	0.06504065040650407	27	0.07458563535911603	107	0.18706293706293706	83	0.10949868073878628	G	16.18	3.049136	0.55110	0.058557	0.104651	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.70516	0.47;-0.49;0.32;0.08	4.63	1.63	0.23807	.	1.008970	0.07937	N	0.978622	T	0.00241	0.0007	L	0.46157	1.445	0.58432	P	1.999999999946489E-6	B;P;B;B;P	0.43094	0.0;0.799;0.001;0.0;0.553	B;P;B;B;B	0.47376	0.001;0.545;0.002;0.001;0.343	T	0.03545	-1.1026	9	0.87932	D	0	.	6.5995	0.22693	0.1017:0.3657:0.5326:0.0	rs2302588;rs52826343;rs61121083;rs2302588	22;22;22;22;22	B4DUT6;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	C	22	ENSP00000351147:W22C;ENSP00000345176:W22C;ENSP00000426178:W22C;ENSP00000452131:W22C	ENSP00000345176:W22C	W	+	3	0	DCAF4	72474505	0.156000	0.22821	0.000000	0.03702	0.833000	0.47200	1.141000	0.31528	0.032000	0.15435	0.313000	0.20887	TGG	G|0.900;C|0.100	0.100	strong		0.473	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		C	73404752	G	C	73404752	3	2	3	1	0	0	0	0	1	0	0	0	4270	1270	44	4	68	4	DCAF4	14	73404752	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5358817	73404752	33944788	312	751										
NEK9	91754	hgsc.bcm.edu	37	chr14	75590846	75590846	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgcagcagtgccagaataacAatctcattcaaggcatcacg	8	11	3	1	rs175449	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:75590846A>T	ENST00000238616.5	-	2	458	c.300T>A	c.(298-300)atT>atA	p.I100I		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAGAATAACAATCTCATTCA	0.453													A|||	2143	0.427915	0.5847	0.3631	5008	,	,		20412	0.1528		0.4911	False		,,,				2504	0.4806				p.I100I		Atlas-SNP	.											.	NEK9	64	.	0			c.T300A						PASS	.	A		2461,1945	622.2+/-393.9	686,1089,428	202	155	171		300	3.8	1	14	dbSNP_79	171	4358,4242	581.7+/-391.3	1105,2148,1047	no	coding-synonymous	NEK9	NM_033116.4		1791,3237,1475	TT,TA,AA		49.3256,44.1443,47.5704		100/980	75590846	6819,6187	2203	4300	6503	SO:0001819	synonymous_variant	91754	exon2			AATAACAATCTCA	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.300T>A	14.37:g.75590846A>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	80	6	0.075	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	CCDS9839.1																																																																																			A|0.436;T|0.564	0.564	strong		0.453	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		T	75590846	A	T	75590846	2	4	3	1	0	0	0	0	0	0	0	1	10331	126	5	5		5	NEK9	14	75590846	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2186094	75590846	31758694	313	752										
C14orf179	112752	hgsc.bcm.edu	37	chr14	76543004	76543004	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atcacaaaacgcatcacagaGatttggggctggcttcattg	10	9	3	1	rs17783366	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:76543004G>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Missense_Mutation_p.D94N	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCATCACAGAGATTTGGGGCT	0.468													G|||	846	0.16893	0.0794	0.2046	5008	,	,		20530	0.119		0.3111	False		,,,				2504	0.1697				p.D94N		Atlas-SNP	.											.	IFT43	63	.	0			c.G280A						PASS	.	G	,ASN/ASP	506,3900	231.4+/-245.2	32,442,1729	119	103	109		,280	-0.3	0	14	dbSNP_123	109	2739,5861	436.1+/-358.2	422,1895,1983	yes	intron,missense	IFT43	NM_001102564.1,NM_052873.2	,23	454,2337,3712	AA,AG,GG		31.8488,11.4843,24.95	,	,94/214	76543004	3245,9761	2203	4300	6503	SO:0001627	intron_variant	112752	exon4			CACAGAGATTTGG	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5634G>A	14.37:g.76543004G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_052873	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	CCDS41973.1	440	0.20146520146520147	56	0.11382113821138211	73	0.20165745856353592	81	0.14160839160839161	230	0.3034300791556728	G	13.47	2.247480	0.39697	0.114843	0.318488	ENSG00000119650	ENST00000238628	T	0.42513	0.97	3.98	-0.277	0.12898	.	1.421900	0.03796	N	0.263712	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31724	-0.9933	8	0.15066	T	0.55	-15.6523	1.0305	0.01537	0.2168:0.186:0.4208:0.1764	rs17783366;rs17850656;rs52814736;rs61208018;rs17783366	94	Q96FT9-2	.	N	94	ENSP00000238628:D94N	ENSP00000238628:D94N	D	+	1	0	IFT43	75612757	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.309000	0.08145	-0.160000	0.11002	0.561000	0.74099	GAT	G|0.774;A|0.226	0.226	strong		0.468	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		A	76543004	G	A	76543004	1	1	3	0	1	0	0	0	0	0	0	0	1762	942	33	2		2	C14orf179	14	76543004	Intron	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	952158	76543004	30806536	314	753										
LGMN	5641	hgsc.bcm.edu	37	chr14	93171022	93171022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttctcacaaaggttgaccaGcacgtacaaatgtctcaacg	7	12	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:93171022G>A	ENST00000393218.2	-	14	1559	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Silent_p.L408L|LGMN_ENST00000557434.1_Silent_p.L351L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	408					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGGTTGACCAGCACGTACAAA	0.468																																					p.L408L		Atlas-SNP	.											.	LGMN	28	.	0			c.C1222T						PASS	.						183	172	175					14																	93171022		2203	4300	6503	SO:0001819	synonymous_variant	5641	exon13			TGACCAGCACGTA	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1222C>T	14.37:g.93171022G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	125	8	0.064	NM_005606	O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	CCDS9904.1																																																																																			.	.	none		0.468	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		A	93171022	G	A	93171022	2	1	3	1	0	0	0	0	0	0	0	1	8755	962	34	2		2	LGMN	14	93171022	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	16628018	93171022	14178518	315	754										
ATG2B	55102	hgsc.bcm.edu	37	chr14	96771959	96771959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccggagaagtgggagggactAttccaaaatcctttcctcca	10	11	0	1	rs2289622	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:96771959A>G	ENST00000359933.4	-	31	5593	c.4700T>C	c.(4699-4701)aTa>aCa	p.I1567T	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1567			I -> T (in dbSNP:rs2289622). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGGAGGGACTATTCCAAAATC	0.383													G|||	4475	0.89357	0.9508	0.9294	5008	,	,		14156	0.7629		0.9881	False		,,,				2504	0.8282				p.I1567T		Atlas-SNP	.											ATG2B,NS,carcinoma,+1,1	ATG2B	169	1	0			c.T4700C						PASS	.	G	THR/ILE	4201,205	127.8+/-164.7	2002,197,4	66	62	64		4700	4.5	0.9	14	dbSNP_100	64	8529,71	43.1+/-100.9	4229,71,0	yes	missense	ATG2B	NM_018036.5	89	6231,268,4	GG,GA,AA		0.8256,4.6527,2.1221	benign	1567/2079	96771959	12730,276	2203	4300	6503	SO:0001583	missense	55102	exon31			GGGACTATTCCAA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4700T>C	14.37:g.96771959A>G	ENSP00000353010:p.Ile1567Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	7	0.0729167	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	1998	0.9148351648351648	466	0.9471544715447154	336	0.9281767955801105	447	0.7814685314685315	749	0.9881266490765171	G	1.683	-0.505895	0.04261	0.953473	0.991744	ENSG00000066739	ENST00000359933	T	0.07800	3.16	5.41	4.51	0.55191	.	0.683858	0.14989	N	0.286818	T	0.00012	0.0000	N	0.00159	-1.955	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	9	0.06494	T	0.89	.	9.2721	0.37677	0.2242:0.0:0.7758:0.0	rs2289622;rs17845448;rs17858321;rs52827622;rs61242850;rs2289622	1567	Q96BY7	ATG2B_HUMAN	T	1567	ENSP00000353010:I1567T	ENSP00000261834:I211T	I	-	2	0	ATG2B	95841712	0.619000	0.27059	0.941000	0.38009	0.975000	0.68041	1.716000	0.37981	1.284000	0.44531	-0.186000	0.12905	ATA	A|0.056;G|0.944	0.944	strong		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		G	96771959	A	G	96771959	3	3	3	1	0	0	0	0	1	0	0	0	1094	449	16	2	1584	2	ATG2B	14	96771959	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3600937	96771959	10577581	316	755										
BCL11B	64919	hgsc.bcm.edu	37	chr14	99642463	99642463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcgtgttctgcgcgtgctgcAgcaggaaccacgcgctgttg	15	12	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:99642463A>G	ENST00000357195.3	-	4	719	c.710T>C	c.(709-711)cTg>cCg	p.L237P	BCL11B_ENST00000443726.2_Missense_Mutation_p.L43P|BCL11B_ENST00000345514.2_Missense_Mutation_p.L166P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	237					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGTGCTGCAGCAGGAACCA	0.637			T	TLX3	T-ALL																																p.L237P		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B	108	.	0			c.T710C						PASS	.						33	32	32					14																	99642463		2199	4298	6497	SO:0001583	missense	64919	exon4			TGCTGCAGCAGGA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.710T>C	14.37:g.99642463A>G	ENSP00000349723:p.Leu237Pro	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	43	14	0.325581	NM_138576	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643442	0.67244	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.26223	1.81;1.75;1.8	4.68	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.103621	0.38548	N	0.001653	T	0.48059	0.1479	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50303	-0.8844	10	0.66056	D	0.02	-12.3029	14.4247	0.67207	1.0:0.0:0.0:0.0	.	166;237	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	P	237;166;43	ENSP00000349723:L237P;ENSP00000280435:L166P;ENSP00000387419:L43P	ENSP00000280435:L166P	L	-	2	0	BCL11B	98712216	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.163000	0.94750	1.883000	0.54544	0.533000	0.62120	CTG	.	.	none		0.637	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		G	99642463	A	G	99642463	3	3	3	1	0	0	0	0	1	0	0	0	1364	188	7	3	1978	3	BCL11B	14	99642463	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2870504	99642463	7707077	317	756										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412163	105412163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtggccctctgggagcttcaCgtccacctggccagcctgga	13	15	2	0	rs201181175		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:105412163C>G	ENST00000333244.5	-	7	9744	c.9625G>C	c.(9625-9627)Gtg>Ctg	p.V3209L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3209						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGCTTCACGTCCACCTGG	0.607																																					p.V3209L		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.G9625C						scavenged	.						108	70	83					14																	105412163		1920	3847	5767	SO:0001583	missense	113146	exon7			GCTTCACGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9625G>C	14.37:g.105412163C>G	ENSP00000353114:p.Val3209Leu	Somatic	134	2	0.0149254		WXS	Illumina HiSeq	Phase_I	105	6	0.0571429	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.043	0.990179	0.18966	.	.	ENSG00000185567	ENST00000333244	T	0.01119	5.31	2.98	-2.26	0.06867	.	.	.	.	.	T	0.00906	0.0030	L	0.35723	1.085	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.48875	-0.8996	9	0.22109	T	0.4	.	0.8864	0.01245	0.2903:0.3589:0.1435:0.2074	.	3209	Q8IVF2	AHNK2_HUMAN	L	3209	ENSP00000353114:V3209L	ENSP00000353114:V3209L	V	-	1	0	AHNAK2	104483208	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.193000	0.00564	-0.054000	0.13266	0.313000	0.20887	GTG	.	.	weak		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412163	C	G	105412163	3	3	3	1	0	0	0	0	1	0	0	0	415	536	19	4	7766	4	AHNAK2	14	105412163	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	5769700	105412163	1937377	318	757										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416167	105416167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaggtctgcagaagggagcGgaatgcagaggtccgtggtc	17	9	1	2	rs200366012	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr14:105416167G>T	ENST00000333244.5	-	7	5740	c.5621C>A	c.(5620-5622)cCg>cAg	p.P1874Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1874						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAAGGGAGCGGAATGCAGAG	0.662													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		15753	0.003		0.0	False		,,,				2504	0.0				p.P1874Q		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,+1,1	AHNAK2	719	1	0			c.C5621A						scavenged	.	T	GLN/PRO	5,3855		1,3,1926	100	116	111		5621	1.5	0	14		111	0,8198		0,0,4099	no	missense	AHNAK2	NM_138420.2	76	1,3,6025	TT,TG,GG		0.0,0.1295,0.0415	benign	1874/5796	105416167	5,12053	1930	4099	6029	SO:0001583	missense	113146	exon7			GGGAGCGGAATGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5621C>A	14.37:g.105416167G>T	ENSP00000353114:p.Pro1874Gln	Somatic	90	7	0.0777778		WXS	Illumina HiSeq	Phase_I	69	7	0.101449	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	t	0.677	-0.799673	0.02841	0.001295	0.0	ENSG00000185567	ENST00000333244	T	0.01918	4.56	3.92	1.46	0.22682	.	.	.	.	.	T	0.00666	0.0022	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47156	-0.9139	9	0.13108	T	0.6	-9.2016	12.0521	0.53513	0.0:0.0:0.5486:0.4514	.	1874	Q8IVF2	AHNK2_HUMAN	Q	1874	ENSP00000353114:P1874Q	ENSP00000353114:P1874Q	P	-	2	0	AHNAK2	104487212	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.654000	0.24918	0.117000	0.18138	-0.376000	0.06991	CCG	G|0.999;T|0.001	0.001	strong		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105416167	G	T	105416167	3	4	3	1	0	0	0	0	1	0	0	0	415	1116	39	4	11770	4	AHNAK2	14	105416167	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	4004	105416167	1933373	319	758										
NUSAP1	51203	hgsc.bcm.edu	37	chr15	41634587	41634587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	taaggtctctcttgcaggcaAccaagttgttaaaagccttg	9	9	2	0	rs386783399|rs7178634	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:41634587A>G	ENST00000559596.1	+	2	184	c.97A>G	c.(97-99)Acc>Gcc	p.T33A	NUSAP1_ENST00000450318.1_Missense_Mutation_p.T33A|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000560177.1_Missense_Mutation_p.T33A|NUSAP1_ENST00000414849.2_Missense_Mutation_p.T33A|NUSAP1_ENST00000560747.1_Missense_Mutation_p.T33A|NUSAP1_ENST00000260359.6_Missense_Mutation_p.T33A|RP11-16O9.2_ENST00000559959.1_RNA			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	33			T -> A (in dbSNP:rs7178634).|T -> N (in dbSNP:rs7178777).	T -> D (in Ref. 6; AL833611). {ECO:0000305}.	establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T33A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CTTGCAGGCAACCAAGTTGTT	0.338													G|||	1714	0.342252	0.5938	0.2781	5008	,	,		23594	0.1548		0.337	False		,,,				2504	0.2464				p.T33A		Atlas-SNP	.											NUSAP1,NS,carcinoma,0,2	NUSAP1	32	2	1	Substitution - Missense(1)	prostate(1)	c.A97G						scavenged	.	G	ALA/THR,ALA/THR,ALA/THR	91,3631		12,67,1782	70	66	67		97,97,97	4.6	1	15	dbSNP_116	67	59,8135		7,45,4045	yes	missense,missense,missense	NUSAP1	NM_001129897.1,NM_016359.4,NM_018454.7	58,58,58	19,112,5827	GG,GA,AA		0.72,2.4449,1.2588	benign,benign,benign	33/403,33/442,33/441	41634587	150,11766	1861	4097	5958	SO:0001583	missense	51203	exon2			CAGGCAACCAAGT	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.97A>G	15.37:g.41634587A>G	ENSP00000453403:p.Thr33Ala	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_018454	B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	CCDS45234.1	577	0.2641941391941392	222	0.45121951219512196	97	0.26795580110497236	72	0.1258741258741259	186	0.24538258575197888	G	12.08	1.830706	0.32329	0.024449	0.0072	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318	T;T;T	0.30981	1.51;1.51;1.51	5.47	4.56	0.56223	.	0.426017	0.27797	N	0.017808	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B;B;B;B;B	0.12630	0.0;0.006;0.005;0.006;0.005	B;B;B;B;B	0.12837	0.0;0.008;0.006;0.008;0.006	T	0.43048	-0.9415	9	0.72032	D	0.01	.	10.0559	0.42244	0.1593:0.0:0.8407:0.0	rs7178634;rs57619738;rs7178634	33;33;33;33;33	E9PB35;Q9BXS6-3;Q9BXS6-5;Q9BXS6;Q9BXS6-2	.;.;.;NUSAP_HUMAN;.	A	33	ENSP00000260359:T33A;ENSP00000400746:T33A;ENSP00000401351:T33A	ENSP00000260359:T33A	T	+	1	0	NUSAP1	39421879	1.000000	0.71417	0.999000	0.59377	0.229000	0.25112	1.570000	0.36439	0.818000	0.34468	-0.227000	0.12334	ACC	A|0.684;G|0.316	0.316	strong		0.338	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		G	41634587	A	G	41634587	3	3	3	1	0	0	0	0	1	0	0	0	10778	43	2	2	103	2	NUSAP1	15	41634587	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10		41634587	60896805	320	759										
RPAP1	26015	hgsc.bcm.edu	37	chr15	41826971	41826971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cctcaggagccatggcctgcAgtcttgctatgttctcttca	9	13	4	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:41826971A>G	ENST00000304330.4	-	6	820	c.704T>C	c.(703-705)cTg>cCg	p.L235P	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.L235P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	235						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATGGCCTGCAGTCTTGCTAT	0.572																																					p.L235P		Atlas-SNP	.											.	RPAP1	111	.	0			c.T704C						PASS	.						123	98	107					15																	41826971		2203	4300	6503	SO:0001583	missense	26015	exon6			GCCTGCAGTCTTG	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.704T>C	15.37:g.41826971A>G	ENSP00000306123:p.Leu235Pro	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	43	15	0.348837	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463125	0.84425	.	.	ENSG00000103932	ENST00000304330	T	0.35048	1.33	5.22	5.22	0.72569	RNA polymerase II-associated protein 1, N-terminal (1);	0.157253	0.43416	D	0.000570	T	0.67439	0.2893	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76000	-0.3119	10	0.87932	D	0	-14.2976	14.084	0.64944	1.0:0.0:0.0:0.0	.	235	Q9BWH6	RPAP1_HUMAN	P	235	ENSP00000306123:L235P	ENSP00000306123:L235P	L	-	2	0	RPAP1	39614263	1.000000	0.71417	0.743000	0.31040	0.974000	0.67602	8.707000	0.91367	1.977000	0.57605	0.402000	0.26972	CTG	.	.	none		0.572	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		G	41826971	A	G	41826971	3	3	3	1	0	0	0	0	1	0	0	0	13541	188	7	3	3557	3	RPAP1	15	41826971	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	192384	41826971	60704421	321	760										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45444518	45444518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcacatcacacgggcatcacAgacaccacccgcgtgggaat	10	15	2	1	rs1706804	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:45444518A>G	ENST00000321429.4	+	26	3635	c.3228A>G	c.(3226-3228)acA>acG	p.T1076T	DUOX1_ENST00000389037.3_Silent_p.T1076T|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.T722T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1076	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.T1076T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGGCATCACAGACACCACCC	0.607													G|||	2888	0.576677	0.466	0.513	5008	,	,		18277	0.4921		0.665	False		,,,				2504	0.7679				p.T1076T		Atlas-SNP	.											DUOX1,NS,carcinoma,0,1	DUOX1	125	1	1	Substitution - coding silent(1)	stomach(1)	c.A3228G						PASS	.	G	,	2117,2279	598.5+/-389.1	518,1081,599	151	110	124		3228,3228	-8.1	0.3	15	dbSNP_89	124	5827,2769	440.1+/-359.4	1978,1871,449	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	2496,2952,1048	GG,GA,AA		32.2127,48.1574,38.8547	,	1076/1552,1076/1552	45444518	7944,5048	2198	4298	6496	SO:0001819	synonymous_variant	53905	exon26			CATCACAGACACC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3228A>G	15.37:g.45444518A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	58	4	0.0689655	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																			A|0.405;G|0.595	0.595	strong		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45444518	A	G	45444518	2	3	3	1	0	0	0	0	0	0	0	1	4800	175	7	3		3	DUOX1	15	45444518	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	3617547	45444518	57086874	322	761										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48056958	48056958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tctgccgttccacccattgcCgatgagccctggttcacaaa	8	15	2	1	rs3743281	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:48056958C>T	ENST00000316364.5	+	12	1660	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SEMA6D_ENST00000358066.4_Silent_p.A407A|SEMA6D_ENST00000558014.1_Silent_p.A407A|SEMA6D_ENST00000389432.2_Silent_p.A407A|SEMA6D_ENST00000389433.2_Silent_p.A407A|SEMA6D_ENST00000558816.1_Silent_p.A407A|SEMA6D_ENST00000354744.4_Silent_p.A407A|SEMA6D_ENST00000389428.3_Silent_p.A407A|SEMA6D_ENST00000389425.3_Silent_p.A407A|SEMA6D_ENST00000355997.3_Silent_p.A407A|SEMA6D_ENST00000536845.2_Silent_p.A407A|SEMA6D_ENST00000537942.1_Silent_p.A407A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACCCATTGCCGATGAGCCCT	0.502													C|||	945	0.188698	0.0431	0.2075	5008	,	,		21013	0.1746		0.2724	False		,,,				2504	0.3006				p.A407A		Atlas-SNP	.											.	SEMA6D	322	.	0			c.C1221T						PASS	.	C	,,,,,,	305,4091	165.8+/-197.2	10,285,1903	78	74	75		1221,1221,1221,1221,1221,1221,1221	-4.9	0.4	15	dbSNP_107	75	2174,6420	370.8+/-336.0	268,1638,2391	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA6D	NM_001198999.1,NM_020858.1,NM_024966.2,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,,	278,1923,4294	TT,TC,CC		25.2967,6.9381,19.0839	,,,,,,	407/1012,407/1012,407/477,407/999,407/1018,407/1074,407/598	48056958	2479,10511	2198	4297	6495	SO:0001819	synonymous_variant	80031	exon12			CATTGCCGATGAG	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1221C>T	15.37:g.48056958C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	65	5	0.0769231	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			C|0.814;T|0.186	0.186	strong		0.502	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		T	48056958	C	T	48056958	2	4	3	1	0	0	0	0	0	0	0	1	14042	639	23	1		1	SEMA6D	15	48056958	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2612440	48056958	54474434	323	762										
KIAA1370	56204	hgsc.bcm.edu	37	chr15	52901977	52901977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcacaatgaatcaaatgttgGgcaattcttgcaatgatttc	7	7	3	2	rs2414166	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:52901977G>A	ENST00000261844.7	-	6	1286	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	FAM214A_ENST00000546305.2_Silent_p.A385A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	378								p.A378A(1)									TCAAATGTTGGGCAATTCTTG	0.418													G|||	2089	0.417133	0.202	0.6095	5008	,	,		19527	0.1081		0.7445	False		,,,				2504	0.5532				p.A378A		Atlas-SNP	.											KIAA1370,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.C1134T						scavenged	.	G		1126,2538		154,818,860	85	78	80		1134	-1.7	1	15	dbSNP_100	80	5986,2198		2198,1590,304	no	coding-synonymous	KIAA1370	NM_019600.2		2352,2408,1164	AA,AG,GG		26.8573,30.7314,39.973		378/1077	52901977	7112,4736	1832	4092	5924	SO:0001819	synonymous_variant	56204	exon6			ATGTTGGGCAATT	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1134C>T	15.37:g.52901977G>A		Somatic	51	1	0.0196078		WXS	Illumina HiSeq	Phase_I	54	5	0.0925926	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	CCDS45263.1																																																																																			G|0.561;A|0.439	0.439	strong		0.418	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		A	52901977	G	A	52901977	2	1	3	1	0	0	0	0	0	0	0	1	8226	1219	43	2		2	KIAA1370	15	52901977	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	4845019	52901977	49629415	324	763										
HERC1	8925	hgsc.bcm.edu	37	chr15	63922752	63922752	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctccaactgccacatcttcTatgattactccagccaggac	6	15	2	1	rs10851731	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:63922752T>A	ENST00000443617.2	-	69	12966	c.12879A>T	c.(12877-12879)atA>atT	p.I4293I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4293					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I4293I(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCACATCTTCTATGATTACTC	0.468													A|||	3189	0.636781	0.8744	0.6484	5008	,	,		18519	0.0972		0.8976	False		,,,				2504	0.5951				p.I4293I		Atlas-SNP	.											HERC1_ENST00000443617,NS,carcinoma,0,1	HERC1	624	1	1	Substitution - coding silent(1)	stomach(1)	c.A12879T						PASS	.	A		3365,569		1441,483,43	160	161	160		12879	-0.9	1	15	dbSNP_120	160	7320,994		3215,890,52	no	coding-synonymous	HERC1	NM_003922.3		4656,1373,95	AA,AT,TT		11.9557,14.4637,12.7613		4293/4862	63922752	10685,1563	1967	4157	6124	SO:0001819	synonymous_variant	8925	exon69			ATCTTCTATGATT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12879A>T	15.37:g.63922752T>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	128	6	0.046875	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																			T|0.342;A|0.658	0.658	strong		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63922752	T	A	63922752	2	1	3	1	0	0	0	0	0	0	0	1	7057	1512	53	5		5	HERC1	15	63922752	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	11020775	63922752	38608640	325	764										
DENND4A	10260	hgsc.bcm.edu	37	chr15	66034069	66034069	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttaccagctttgtaagatacAgtgttcgtctttgccaccga	8	10	1	1	rs61751117	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:66034069A>C	ENST00000431932.2	-	5	823	c.615T>G	c.(613-615)acT>acG	p.T205T	DENND4A_ENST00000443035.3_Silent_p.T205T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	205	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGTAAGATACAGTGTTCGTCT	0.323													A|||	77	0.0153754	0.0008	0.0231	5008	,	,		15927	0.001		0.0348	False		,,,				2504	0.0245				p.T205T		Atlas-SNP	.											.	DENND4A	217	.	0			c.T615G						PASS	.	A	,	24,3610		0,24,1793	110	104	106		615,615	4	1	15	dbSNP_129	106	243,7905		6,231,3837	no	coding-synonymous,coding-synonymous	DENND4A	NM_001144823.1,NM_005848.3	,	6,255,5630	CC,CA,AA		2.9823,0.6604,2.2662	,	205/1907,205/1864	66034069	267,11515	1817	4074	5891	SO:0001819	synonymous_variant	10260	exon5			AGATACAGTGTTC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.615T>G	15.37:g.66034069A>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																			A|0.979;C|0.021	0.021	strong		0.323	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		C	66034069	A	C	66034069	2	2	3	1	0	0	0	0	0	0	0	1	4433	175	7	5		5	DENND4A	15	66034069	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	2111317	66034069	36497323	326	765										
GOLGA6A	342096	hgsc.bcm.edu	37	chr15	74363379	74363379	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caggctcacttcataaaaaaCttcggagagagggaggcggg	14	8	2	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:74363379C>A	ENST00000290438.3	-	18	1995		c.e18-1		RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A							Golgi apparatus (GO:0005794)		p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCATAAAAAACTTCGGAGAGA	0.627																																					.		Atlas-SNP	.											GOLGA6A,NS,lymphoid_neoplasm,0,2	GOLGA6A	28	2	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.1955-1G>T						scavenged	.						44	51	48					15																	74363379		2141	4213	6354	SO:0001630	splice_region_variant	342096	exon19			AAAAAACTTCGGA	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1955-1G>T	15.37:g.74363379C>A		Somatic	1210	2	0.00165289		WXS	Illumina HiSeq	Phase_I	927	10	0.0107875	NM_001038640	A8K959|Q9NYA7	Splice_Site	SNP	ENST00000290438.3	37	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	3.341	-0.134555	0.06711	.	.	ENSG00000159289	ENST00000290438	.	.	.	1.55	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.26291	N	0.978129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6073	0.22731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA6A	72150432	0.761000	0.28439	0.005000	0.12908	0.016000	0.09150	3.955000	0.56715	1.182000	0.42928	0.162000	0.16502	.	.	.	none		0.627	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357	Intron	A	74363379	C	A	74363379	5	1	3	1	0	0	0	0	0	0	1	0	6557	579	20	4	131	4	GOLGA6A	15	74363379	Splice_Site	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	8329310	74363379	28168013	327	766										
ARID3B	10620	hgsc.bcm.edu	37	chr15	74836319	74836319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagcagcagcagcagcaacaAcagaagcagccacacctggc	10	15	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:74836319A>G	ENST00000346246.5	+	2	273	c.42A>G	c.(40-42)caA>caG	p.Q14Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	14	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcaacaacagaagcagc	0.562																																					p.Q14Q		Atlas-SNP	.											ARID3B,right_lower_lobe,carcinoma,0,1	ARID3B	35	1	0			c.A42G						scavenged	.						18	21	20					15																	74836319		2196	4294	6490	SO:0001819	synonymous_variant	10620	exon2			GCAACAACAGAAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.42A>G	15.37:g.74836319A>G		Somatic	100	5	0.05		WXS	Illumina HiSeq	Phase_I	92	9	0.0978261	NM_006465	O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	CCDS10264.1																																																																																			.	.	none		0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		G	74836319	A	G	74836319	2	3	3	1	0	0	0	0	0	0	0	1	917	40	2	2		2	ARID3B	15	74836319	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	472940	74836319	27695073	328	767										
CHRNA3	1136	hgsc.bcm.edu	37	chr15	78894447	78894447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttcgccttatcgtaggaccaGgaaccgaacttcatggtaca	9	11	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr15:78894447G>A	ENST00000326828.5	-	5	921	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CHRNA3_ENST00000348639.3_Silent_p.S179S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	179					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTAGGACCAGGAACCGAACT	0.502																																					p.S179S		Atlas-SNP	.											.	CHRNA3	56	.	0			c.C537T						PASS	.						187	169	175					15																	78894447		2196	4293	6489	SO:0001819	synonymous_variant	1136	exon5			GGACCAGGAACCG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.537C>T	15.37:g.78894447G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	107	38	0.35514	NM_000743	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	CCDS10305.1																																																																																			.	.	none		0.502	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			A	78894447	G	A	78894447	2	1	3	1	0	0	0	0	0	0	0	1	3384	987	35	2		2	CHRNA3	15	78894447	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	4058128	78894447	23636945	329	768										
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1252441	1252441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgagaagatcccgcatgtggTcggggagcatggtgaggacc	17	9	0	3	rs4984636	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:1252441T>C	ENST00000348261.5	+	9	2239	c.1991T>C	c.(1990-1992)gTc>gCc	p.V664A	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V664A|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V664A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	664			V -> A (in dbSNP:rs4984636). {ECO:0000269|PubMed:11751928, ECO:0000269|PubMed:12891677, ECO:0000269|PubMed:9670923}.		aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCGCATGTGGTCGGGGAGCAT	0.682													T|||	530	0.105831	0.0091	0.1744	5008	,	,		16513	0.002		0.2863	False		,,,				2504	0.1094				p.V664A		Atlas-SNP	.											CACNA1H_ENST00000358590,rectum,carcinoma,0,2	CACNA1H	317	2	0			c.T1991C						scavenged	.	T	ALA/VAL,ALA/VAL	178,3466		11,156,1655	4	5	5		1991,1991	4.5	0.2	16	dbSNP_111	5	1823,5663		248,1327,2168	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	64,64	259,1483,3823	CC,CT,TT		24.3521,4.8847,17.9784	possibly-damaging,possibly-damaging	664/2348,664/2354	1252441	2001,9129	1822	3743	5565	SO:0001583	missense	8912	exon9			ATGTGGTCGGGGA	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1991T>C	16.37:g.1252441T>C	ENSP00000334198:p.Val664Ala	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	58	3	0.0517241	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	287	0.13141025641025642	8	0.016260162601626018	63	0.17403314917127072	1	0.0017482517482517483	215	0.2836411609498681	T	17.49	3.403103	0.62288	0.048847	0.243521	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96619	-4.07;-4.01	4.47	4.47	0.54385	.	157.429000	0.00166	N	0.000000	T	0.00178	0.0005	L	0.50333	1.59	0.36796	P	0.11489499999999997	P;D	0.53151	0.571;0.958	B;P	0.46026	0.288;0.501	T	0.54669	-0.8259	9	0.51188	T	0.08	.	13.0686	0.59048	0.0:0.0:0.0:1.0	rs4984636;rs57010276;rs4984636	664;664	O95180-2;O95180	.;CAC1H_HUMAN	A	664	ENSP00000334198:V664A;ENSP00000351401:V664A	ENSP00000334198:V664A	V	+	2	0	CACNA1H	1192442	1.000000	0.71417	0.174000	0.22961	0.858000	0.48976	4.766000	0.62279	1.864000	0.54056	0.533000	0.62120	GTC	T|0.874;C|0.126	0.126	strong		0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1252441	T	C	1252441	3	2	3	1	0	0	0	0	1	0	0	0	2545	1667	58	2	2021	2	CACNA1H	16	1252441	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10		1252441	89102312	330	769										
PTX4	390667	hgsc.bcm.edu	37	chr16	1536466	1536466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaggcggccggaggccgtgCggacccagctgcagaaggac	17	14	0	1	rs61751878	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:1536466C>T	ENST00000447419.2	-	3	936	c.911G>A	c.(910-912)cGc>cAc	p.R304H	PTX4_ENST00000293922.1_Missense_Mutation_p.R299H|PTX4_ENST00000440447.2_Missense_Mutation_p.A156T			Q96A99	PTX4_HUMAN	pentraxin 4, long	304	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGAGGCCGTGCGGACCCAGCT	0.662													C|||	9	0.00179712	0.0	0.0029	5008	,	,		16505	0.0		0.006	False		,,,				2504	0.001				p.R299H		Atlas-SNP	.											.	PTX4	46	.	0			c.G896A						PASS	.	C	HIS/ARG	2,4396	4.2+/-10.8	0,2,2197	51	57	55		896	4.6	0.2	16	dbSNP_129	55	71,8529	42.6+/-100.3	0,71,4229	yes	missense	PTX4	NM_001013658.1	29	0,73,6426	TT,TC,CC		0.8256,0.0455,0.5616	probably-damaging	299/474	1536466	73,12925	2199	4300	6499	SO:0001583	missense	390667	exon3			GCCGTGCGGACCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.911G>A	16.37:g.1536466C>T	ENSP00000445277:p.Arg304His	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	134	7	0.0522388	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	11.23	1.577860	0.28180	4.55E-4	0.008256	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.67345	-0.26;-0.26	5.58	4.62	0.57501	.	0.132733	0.46145	D	0.000314	T	0.55862	0.1947	M	0.79475	2.455	0.26244	N	0.978822	P	0.50443	0.935	B	0.38020	0.263	T	0.64863	-0.6307	10	0.48119	T	0.1	.	12.7379	0.57236	0.0:0.9178:0.0:0.0822	.	299	Q96A99-2	.	H	304;299	ENSP00000445277:R304H;ENSP00000293922:R299H	ENSP00000293922:R299H	R	-	2	0	PTX4	1476467	0.000000	0.05858	0.234000	0.24042	0.010000	0.07245	0.554000	0.23407	2.638000	0.89438	0.655000	0.94253	CGC	C|0.995;T|0.005	0.005	strong		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1536466	C	T	1536466	3	4	3	1	0	0	0	0	1	0	0	0	12823	768	27	1	528	1	PTX4	16	1536466	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	284025	1536466	88818287	331	770										
ABCC6	368	hgsc.bcm.edu	37	chr16	16248757	16248757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgatgctgatcctggagcgCagtgtgtgcagccccacgtg	14	11	0	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:16248757C>T	ENST00000205557.7	-	28	4043	c.4014G>A	c.(4012-4014)ctG>ctA	p.L1338L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1338	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCTGGAGCGCAGTGTGTGCA	0.687																																					p.L1338L		Atlas-SNP	.											.	ABCC6	110	.	0			c.G4014A						PASS	.						29	27	28					16																	16248757		2197	4299	6496	SO:0001819	synonymous_variant	368	exon28			GGAGCGCAGTGTG	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4014G>A	16.37:g.16248757C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	93	33	0.354839	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	CCDS10568.1																																																																																			.	.	none		0.687	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16248757	C	T	16248757	2	4	3	1	0	0	0	0	0	0	0	1	57	697	25	2		2	ABCC6	16	16248757	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	14712291	16248757	74105996	332	771										
PDILT	204474	hgsc.bcm.edu	37	chr16	20376755	20376755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tacttacagaacatcacaaaTacgtccttttctttgtcaaa	3	10	3	1	rs8054266	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:20376755T>C	ENST00000302451.4	-	9	1472	c.1224A>G	c.(1222-1224)gtA>gtG	p.V408V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	408	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACATCACAAATACGTCCTTTT	0.438													C|||	2361	0.471446	0.6331	0.4467	5008	,	,		20585	0.1925		0.5765	False		,,,				2504	0.4499				p.V408V		Atlas-SNP	.											.	PDILT	120	.	0			c.A1224G						PASS	.	C		2607,1799	530.1+/-372.8	775,1057,371	165	152	157		1224	-10.4	0.1	16	dbSNP_116	157	5214,3386	501.1+/-375.4	1603,2008,689	no	coding-synonymous	PDILT	NM_174924.1		2378,3065,1060	CC,CT,TT		39.3721,40.8307,39.8662		408/585	20376755	7821,5185	2203	4300	6503	SO:0001819	synonymous_variant	204474	exon9			CACAAATACGTCC		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1224A>G	16.37:g.20376755T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_174924	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																			T|0.448;C|0.552	0.552	strong		0.438	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		C	20376755	T	C	20376755	2	2	3	1	0	0	0	0	0	0	0	1	11674	1393	49	2		2	PDILT	16	20376755	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	4127998	20376755	69977998	333	772										
IL4R	3566	hgsc.bcm.edu	37	chr16	27374180	27374180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttaccgcagcttcagcaacTccctgagccagtcaccgtgt	8	16	2	1	rs1805015	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:27374180T>C	ENST00000395762.2	+	11	1766	c.1507T>C	c.(1507-1509)Tcc>Ccc	p.S503P	IL4R_ENST00000543915.2_Missense_Mutation_p.S503P|IL4R_ENST00000380922.3_Missense_Mutation_p.S488P|IL4R_ENST00000170630.2_Missense_Mutation_p.S503P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	503	Required for IRS1 activation and IL4- induced cell growth.		S -> P (lowered total IgE concentration; dbSNP:rs1805015). {ECO:0000269|PubMed:10233717, ECO:0000269|PubMed:11285129, ECO:0000269|Ref.5}.		defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCAGCAACTCCCTGAGCCA	0.622													T|||	1010	0.201677	0.4251	0.1614	5008	,	,		19105	0.0843		0.1521	False		,,,				2504	0.1002				p.S503P		Atlas-SNP	.											IL4R,colon,carcinoma,0,1	IL4R	70	1	0			c.T1507C	GRCh37	CM993667	IL4R	M	rs1805015	scavenged	.	T	PRO/SER	1595,2799	491.1+/-362.0	292,1011,894	78	83	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1507	1.6	0	16	dbSNP_89	81	1391,7209	265.3+/-286.1	110,1171,3019	yes	missense	IL4R	NM_000418.2	74	402,2182,3913	CC,CT,TT		16.1744,36.2995,22.9798	possibly-damaging	503/826	27374180	2986,10008	2197	4300	6497	SO:0001583	missense	3566	exon11			AGCAACTCCCTGA	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1507T>C	16.37:g.27374180T>C	ENSP00000379111:p.Ser503Pro	Somatic	57	2	0.0350877		WXS	Illumina HiSeq	Phase_I	61	4	0.0655738	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	458	0.2097069597069597	227	0.4613821138211382	62	0.1712707182320442	43	0.07517482517482517	126	0.1662269129287599	T	12.87	2.068150	0.36470	0.362995	0.161744	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	4.99	1.57	0.23409	.	10.161500	0.00166	N	0.000000	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P;P;P	0.36144	0.539;0.539;0.539	B;B;B	0.31016	0.123;0.123;0.123	T	0.45056	-0.9287	9	0.33141	T	0.24	.	6.2127	0.20638	0.0:0.2856:0.0:0.7143	rs1805015;rs17513769;rs60163518;rs1805015	488;503;503	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	P	503;503;488;503	ENSP00000379111:S503P;ENSP00000441667:S503P;ENSP00000370309:S488P;ENSP00000170630:S503P	ENSP00000170630:S503P	S	+	1	0	IL4R	27281681	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.118000	0.15605	0.762000	0.33152	0.459000	0.35465	TCC	T|0.773;C|0.227	0.227	strong		0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27374180	T	C	27374180	3	2	3	1	0	0	0	0	1	0	0	0	7698	1551	54	3	1559	3	IL4R	16	27374180	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	6997425	27374180	62980573	334	773										
CES7	221223	hgsc.bcm.edu	37	chr16	55890347	55890347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggagccactgaggatctcaGgagcctccttctgtggagag	14	10	2	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:55890347G>A	ENST00000290567.9	-	9	1188	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	CES5A_ENST00000521992.1_Missense_Mutation_p.P385L|CES5A_ENST00000518005.1_Missense_Mutation_p.P250L|CES5A_ENST00000520435.1_Missense_Mutation_p.P326L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.P356L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	356						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGGATCTCAGGAGCCTCCTT	0.547																																					p.P385L		Atlas-SNP	.											.	CES5A	206	.	0			c.C1154T						PASS	.						135	115	122					16																	55890347		2198	4300	6498	SO:0001583	missense	221223	exon10			ATCTCAGGAGCCT	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1067C>T	16.37:g.55890347G>A	ENSP00000290567:p.Pro356Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	60	42	0.7	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	4.176	0.031232	0.08101	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	3.18	3.18	0.36537	Carboxylesterase, type B (1);	0.794542	0.10319	N	0.688955	T	0.51669	0.1688	L	0.33753	1.03	0.30761	N	0.744061	B;B	0.32245	0.1;0.361	B;B	0.34242	0.066;0.178	T	0.54794	-0.8240	10	0.42905	T	0.14	.	10.1997	0.43075	0.0:0.0:1.0:0.0	.	356;356	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	L	385;356;250;356;326;136	ENSP00000428864:P385L;ENSP00000324271:P356L;ENSP00000428571:P250L;ENSP00000290567:P356L;ENSP00000428887:P326L	ENSP00000290567:P356L	P	-	2	0	CES5A	54447848	0.998000	0.40836	0.399000	0.26333	0.068000	0.16541	3.777000	0.55364	2.100000	0.63781	0.449000	0.29647	CCT	.	.	none		0.547	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		A	55890347	G	A	55890347	3	1	3	1	0	0	0	0	1	0	0	0	3272	1000	35	2	680	2	CES7	16	55890347	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	28516167	55890347	34464406	335	774										
PLA2G15	23659	hgsc.bcm.edu	37	chr16	68293320	68293320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagctgcactgcctctatggTactggcgtccccacaccaga	9	16	1	1	rs3743739	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:68293320T>C	ENST00000219345.5	+	6	1082	c.999T>C	c.(997-999)ggT>ggC	p.G333G	PLA2G15_ENST00000444212.2_Silent_p.G133G|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.G239G|PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000569843.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	333					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.G333G(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCCTCTATGGTACTGGCGTCC	0.562													C|||	1090	0.217652	0.3623	0.2032	5008	,	,		22081	0.1022		0.166	False		,,,				2504	0.2045				p.G333G		Atlas-SNP	.											PLA2G15,NS,carcinoma,0,1	PLA2G15	30	1	1	Substitution - coding silent(1)	prostate(1)	c.T999C						scavenged	.	C		1393,3003	687.0+/-404.8	228,937,1033	99	85	90		999	-1.3	0.9	16	dbSNP_107	90	1477,7123	749.3+/-407.4	162,1153,2985	no	coding-synonymous	PLA2G15	NM_012320.3		390,2090,4018	CC,CT,TT		17.1744,31.6879,22.0837		333/413	68293320	2870,10126	2198	4300	6498	SO:0001819	synonymous_variant	23659	exon6			CTATGGTACTGGC	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.999T>C	16.37:g.68293320T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	3	0.046875	NM_012320	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	CCDS10864.1																																																																																			T|0.778;C|0.222	0.222	strong		0.562	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		C	68293320	T	C	68293320	2	2	3	1	0	0	0	0	0	0	0	1	11992	1625	57	2		2	PLA2G15	16	68293320	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	12402973	68293320	22061433	336	775										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71015329	71015329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggagatcgaggcagatttggGgaaagattccctctccgctc	13	10	1	3	rs78763837	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:71015329G>T	ENST00000393567.2	-	29	4625	c.4475C>A	c.(4474-4476)cCc>cAc	p.P1492H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1492					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGATTTGGGGAAAGATTCC	0.483													G|||	2340	0.467252	0.4455	0.5591	5008	,	,		18143	0.5645		0.328	False		,,,				2504	0.4744				p.P1492H		Atlas-SNP	.											LOC652153,NS,haematopoietic_neoplasm,0,2	HYDIN	788	2	0			c.C4475A						scavenged	.						66	66	66					16																	71015329		1844	4072	5916	SO:0001583	missense	54768	exon29			ATTTGGGGAAAGA	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4475C>A	16.37:g.71015329G>T	ENSP00000377197:p.Pro1492His	Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	170	6	0.0352941	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	964	0.4413919413919414	233	0.4735772357723577	184	0.5082872928176796	312	0.5454545454545454	235	0.3100263852242744	G	24.0	4.480970	0.84747	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01221	5.15	4.26	4.26	0.50523	.	0.000000	0.33023	U	0.005376	T	0.00012	0.0000	M	0.80183	2.485	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	T	0.45056	-0.9287	9	0.49607	T	0.09	.	16.6224	0.84934	0.0:0.0:1.0:0.0	.	1491	F8WD23	.	H	1492;1491	ENSP00000377197:P1492H	ENSP00000313052:P1491H	P	-	2	0	HYDIN	69572830	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.105000	0.94246	2.083000	0.62718	0.603000	0.83216	CCC	.	.	weak		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71015329	G	T	71015329	3	4	3	1	0	0	0	0	1	0	0	0	7467	1232	43	4	11122	4	HYDIN	16	71015329	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2722009	71015329	19339424	337	776										
DHX38	9785	hgsc.bcm.edu	37	chr16	72130815	72130815	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggcagagagagcgggagcggCgggaacatggtgtctatgcc	19	8	1	2	rs1050362	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:72130815C>A	ENST00000268482.3	+	3	927	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	140					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCGGGAGCGGCGGGAACATGG	0.537													C|||	2395	0.478235	0.7874	0.3156	5008	,	,		19363	0.3105		0.3549	False		,,,				2504	0.4755				p.R140R	Melanoma(97;711 1442 7855 13832 28836)	Atlas-SNP	.											DHX38,right_upper_lobe,carcinoma,-2,2	DHX38	91	2	0			c.C418A						scavenged	.	C		3048,1348	692.2+/-405.5	1072,904,222	151	146	148		418	4.1	1	16	dbSNP_86	148	3214,5386	484.9+/-371.5	591,2032,1677	no	coding-synonymous	DHX38	NM_014003.3		1663,2936,1899	AA,AC,CC		37.3721,30.6642,48.1841		140/1228	72130815	6262,6734	2198	4300	6498	SO:0001819	synonymous_variant	9785	exon3			GAGCGGCGGGAAC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.418C>A	16.37:g.72130815C>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	130	5	0.0384615	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																			C|0.529;A|0.471	0.471	strong		0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72130815	C	A	72130815	2	1	3	1	0	0	0	0	0	0	0	1	4511	759	27	4		4	DHX38	16	72130815	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	1115486	72130815	18223938	338	777										
DHX38	9785	hgsc.bcm.edu	37	chr16	72135014	72135014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtgattccagtgaaggatgcTacttctgacctggccatcat	10	10	2	3	rs1050363	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:72135014T>C	ENST00000268482.3	+	10	1817	c.1308T>C	c.(1306-1308)gcT>gcC	p.A436A	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	436					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A436A(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGAAGGATGCTACTTCTGACC	0.542													C|||	2794	0.557907	0.823	0.3963	5008	,	,		19009	0.3591		0.5	False		,,,				2504	0.5787				p.A436A	Melanoma(97;711 1442 7855 13832 28836)	Atlas-SNP	.											DHX38,NS,carcinoma,0,1	DHX38	91	1	1	Substitution - coding silent(1)	stomach(1)	c.T1308C						scavenged	.	C		3313,1083	392.6+/-328.5	1262,789,147	128	133	131		1308	2.3	1	16	dbSNP_86	131	4556,4044	558.4+/-387.2	1204,2148,948	no	coding-synonymous	DHX38	NM_014003.3		2466,2937,1095	CC,CT,TT		47.0233,24.636,39.4506		436/1228	72135014	7869,5127	2198	4300	6498	SO:0001819	synonymous_variant	9785	exon10			GGATGCTACTTCT	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1308T>C	16.37:g.72135014T>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	277	10	0.0361011	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																			T|0.421;C|0.579	0.579	strong		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		C	72135014	T	C	72135014	2	2	3	1	0	0	0	0	0	0	0	1	4511	1509	53	3		3	DHX38	16	72135014	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	4199	72135014	18219739	339	778										
C16orf46	123775	hgsc.bcm.edu	37	chr16	81095091	81095091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccggatcggtcagcagggatAtctgggccgctggggaaggg	19	9	2	0	rs7198494	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr16:81095091A>G	ENST00000299578.5	-	4	1098	c.863T>C	c.(862-864)aTa>aCa	p.I288T	C16orf46_ENST00000378611.4_Missense_Mutation_p.I288T|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	288			I -> T (in dbSNP:rs7198494).			cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CAGCAGGGATATCTGGGCCGC	0.577													G|||	790	0.157748	0.2791	0.1643	5008	,	,		17378	0.0198		0.2048	False		,,,				2504	0.0828				p.I288T		Atlas-SNP	.											.	C16orf46	57	.	0			c.T863C						PASS	.	G	THR/ILE,THR/ILE	1168,3236	707.8+/-407.5	143,882,1177	112	107	108		863,863	2.4	0	16	dbSNP_116	108	1943,6657	716.5+/-406.1	224,1495,2581	yes	missense,missense	C16orf46	NM_001100873.1,NM_152337.2	89,89	367,2377,3758	GG,GA,AA		22.593,26.5213,23.9234	benign,benign	288/389,288/396	81095091	3111,9893	2202	4300	6502	SO:0001583	missense	123775	exon3			AGGGATATCTGGG	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.863T>C	16.37:g.81095091A>G	ENSP00000299578:p.Ile288Thr	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_001100873	Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	CCDS10932.1	372	0.17032967032967034	140	0.2845528455284553	69	0.19060773480662985	13	0.022727272727272728	150	0.19788918205804748	G	0.004	-2.315748	0.00235	0.265213	0.22593	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.12774	2.65;2.65	5.53	2.4	0.29515	.	0.813420	0.11056	N	0.604525	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46624	-0.9178	9	0.02654	T	1	.	3.4169	0.07378	0.1687:0.1419:0.5584:0.131	rs7198494;rs61064956;rs7198494	288;288	Q6P387-2;Q6P387	.;CP046_HUMAN	T	288;15;288	ENSP00000367874:I288T;ENSP00000299578:I288T	ENSP00000299578:I288T	I	-	2	0	C16orf46	79652592	0.008000	0.16893	0.003000	0.11579	0.036000	0.12997	1.169000	0.31871	0.717000	0.32145	-0.213000	0.12676	ATA	A|0.792;G|0.208	0.208	strong		0.577	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		G	81095091	A	G	81095091	3	3	3	1	0	0	0	0	1	0	0	0	1815	449	16	2	356	2	C16orf46	16	81095091	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	8960077	81095091	9259662	340	779										
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2929392	2929392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tcatccaatcccagctctccGgaaatctgccccaacaagga	6	16	3	0	rs55904912	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:2929392G>A	ENST00000254695.8	+	20	1932	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	RAP1GAP2_ENST00000540393.2_Silent_p.P595P|RAP1GAP2_ENST00000542807.1_Silent_p.P614P|RAP1GAP2_ENST00000366401.4_Silent_p.P599P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	614	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P614P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGCTCTCCGGAAATCTGCC	0.577													G|||	2146	0.428514	0.2451	0.4986	5008	,	,		16508	0.5466		0.4066	False		,,,				2504	0.5276				p.P614P		Atlas-SNP	.											RAP1GAP2_ENST00000254695,NS,carcinoma,0,2	RAP1GAP2	90	2	1	Substitution - coding silent(1)	stomach(1)	c.G1842A						scavenged	.	G	,	1082,2966		152,778,1094	45	48	47		1797,1842	-7.4	1	17	dbSNP_129	47	3415,4945		687,2041,1452	no	coding-synonymous,coding-synonymous	RAP1GAP2	NM_001100398.1,NM_015085.4	,	839,2819,2546	AA,AG,GG		40.8493,26.7292,36.2427	,	599/716,614/731	2929392	4497,7911	2024	4180	6204	SO:0001819	synonymous_variant	23108	exon20			CTCTCCGGAAATC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1842G>A	17.37:g.2929392G>A		Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	297	6	0.020202	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																			G|0.579;A|0.421	0.421	strong		0.577	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2929392	G	A	2929392	2	1	3	1	0	0	0	0	0	0	0	1	13038	1103	39	1		1	RAP1GAP2	17	2929392	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		2929392	78265818	341	780										
TRPV3	162514	hgsc.bcm.edu	37	chr17	3436080	3436080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgcttcacaaagtcattctgCgtcttgaagtcctcggccac	8	14	4	1	rs395357	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:3436080C>T	ENST00000576742.1	-	8	1257	c.936G>A	c.(934-936)acG>acA	p.T312T	TRPV3_ENST00000301365.4_Silent_p.T312T|TRPV3_ENST00000572519.1_Silent_p.T312T	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	312					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGTCATTCTGCGTCTTGAAGT	0.592													T|||	1783	0.35603	0.3328	0.281	5008	,	,		21646	0.254		0.4901	False		,,,				2504	0.408				p.T312T		Atlas-SNP	.											.	TRPV3	85	.	0			c.G936A						PASS	.	T		1524,2882	673.7+/-402.8	267,990,946	243	161	188		936	-8.1	0.3	17	dbSNP_80	188	4224,4376	583.4+/-391.6	1032,2160,1108	no	coding-synonymous	TRPV3	NM_145068.2		1299,3150,2054	TT,TC,CC		49.1163,34.5892,44.195		312/791	3436080	5748,7258	2203	4300	6503	SO:0001819	synonymous_variant	162514	exon8			ATTCTGCGTCTTG	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.936G>A	17.37:g.3436080C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	105	6	0.0571429	NM_001258205	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																			C|0.601;T|0.399	0.399	strong		0.592	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		T	3436080	C	T	3436080	2	4	3	1	0	0	0	0	0	0	0	1	16594	755	27	1		1	TRPV3	17	3436080	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	506688	3436080	77759130	342	781										
P2RX5	5026	hgsc.bcm.edu	37	chr17	3599205	3599205	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggcctgcagcagccggtacAgcaggcccaccttcttgttc	11	15	1	0	rs142863822	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:3599205A>T	ENST00000225328.5	-	1	493	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	P2RX5_ENST00000547178.1_Missense_Mutation_p.L32Q|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.L32Q|P2RX5_ENST00000345901.3_Missense_Mutation_p.L32Q|P2RX5_ENST00000552276.1_Missense_Mutation_p.L32Q|P2RX5_ENST00000551178.1_Missense_Mutation_p.L32Q|P2RX5_ENST00000435558.1_Missense_Mutation_p.L32Q	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	32					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGCCGGTACAGCAGGCCCAC	0.652													A|||	8	0.00159744	0.0008	0.0014	5008	,	,		13290	0.0		0.005	False		,,,				2504	0.001				p.L32Q		Atlas-SNP	.											.	P2RX5	36	.	0			c.T95A						PASS	.	A	GLN/LEU,GLN/LEU,GLN/LEU,GLN/LEU	5,4401	8.1+/-20.4	0,5,2198	77	67	71		95,95,95,95	3.3	1	17	dbSNP_134	71	54,8546	33.3+/-86.6	0,54,4246	yes	missense,missense,missense,missense	P2RX5	NM_001204519.1,NM_001204520.1,NM_002561.3,NM_175080.2	113,113,113,113	0,59,6444	TT,TA,AA		0.6279,0.1135,0.4536	probably-damaging,probably-damaging,probably-damaging,probably-damaging	32/422,32/399,32/423,32/398	3599205	59,12947	2203	4300	6503	SO:0001583	missense	5026	exon1			CGGTACAGCAGGC	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.95T>A	17.37:g.3599205A>T	ENSP00000225328:p.Leu32Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	98	6	0.0612245	NM_001204519	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	A	19.59	3.855604	0.71834	0.001135	0.006279	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000440619	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	3.33	3.33	0.38152	.	.	.	.	.	T	0.19765	0.0475	M	0.86953	2.85	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.992;0.998;0.995;0.992	T	0.03354	-1.1045	9	0.87932	D	0	.	11.3327	0.49485	1.0:0.0:0.0:0.0	.	32;32;32;32;32	G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;P2RX5_HUMAN;.	Q	32	ENSP00000415370:L32Q;ENSP00000447545:L32Q;ENSP00000448355:L32Q;ENSP00000225328:L32Q;ENSP00000342161:L32Q	ENSP00000225328:L32Q	L	-	2	0	P2RX5	3545954	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.769000	0.91742	1.529000	0.49120	0.260000	0.18958	CTG	A|0.996;T|0.004	0.004	strong		0.652	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		T	3599205	A	T	3599205	3	4	3	1	0	0	0	0	1	0	0	0	11343	188	7	5	1225	5	P2RX5	17	3599205	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	163125	3599205	77596005	343	782										
ITGAE	3682	hgsc.bcm.edu	37	chr17	3657175	3657175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtaccgtggagcccccgcgaTgtaggagaggctgcaggtct	16	11	1	1	rs220479	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:3657175T>C	ENST00000263087.4	-	13	1527	c.1429A>G	c.(1429-1431)Atc>Gtc	p.I477V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	477			I -> V (in dbSNP:rs220479). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8119947}.		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCCCCGCGATGTAGGAGAGG	0.627													C|||	3557	0.710264	0.9887	0.6167	5008	,	,		16353	0.4058		0.8618	False		,,,				2504	0.5583				p.I477V	NSCLC(182;635 2928 8995 38788)	Atlas-SNP	.											.	ITGAE	96	.	0			c.A1429G						PASS	.	C	VAL/ILE	4210,196	121.7+/-159.2	2011,188,4	69	58	62		1429	-3.8	0	17	dbSNP_79	62	7022,1578	295.9+/-302.6	2874,1274,152	yes	missense	ITGAE	NM_002208.4	29	4885,1462,156	CC,CT,TT		18.3488,4.4485,13.6399	benign	477/1180	3657175	11232,1774	2203	4300	6503	SO:0001583	missense	3682	exon13			CCGCGATGTAGGA	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1429A>G	17.37:g.3657175T>C	ENSP00000263087:p.Ile477Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	4	0.0784314	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	1615	0.7394688644688645	483	0.9817073170731707	249	0.6878453038674033	236	0.4125874125874126	647	0.8535620052770448	C	0.003	-2.501285	0.00157	0.955515	0.816512	ENSG00000083457	ENST00000263087	T	0.16073	2.37	4.56	-3.83	0.04269	.	.	.	.	.	T	0.00012	0.0000	N	0.00738	-1.235	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.28170	-1.0052	8	0.02654	T	1	.	6.7004	0.23223	0.138:0.2507:0.0:0.6113	rs220479;rs60417346;rs220479	477	P38570	ITAE_HUMAN	V	477	ENSP00000263087:I477V	ENSP00000263087:I477V	I	-	1	0	ITGAE	3603924	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	-0.538000	0.06120	-0.905000	0.03871	-1.403000	0.01137	ATC	T|0.196;C|0.804	0.804	strong		0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		C	3657175	T	C	3657175	3	2	3	1	0	0	0	0	1	0	0	0	7885	1464	51	2	2186	2	ITGAE	17	3657175	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	57970	3657175	77538035	344	783										
SPNS3	201305	hgsc.bcm.edu	37	chr17	4351560	4351560	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggggccgtgggaggcttcagGagcagctggtgtgaggacgt	21	7	1	1	rs12450838	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:4351560G>A	ENST00000355530.2	+	6	1012	c.732G>A	c.(730-732)agG>agA	p.R244R	SPNS3_ENST00000333476.2_Silent_p.R117R|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	244					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGGCTTCAGGAGCAGCTGGT	0.622													G|||	1251	0.2498	0.0794	0.4669	5008	,	,		18277	0.1151		0.3469	False		,,,				2504	0.365				p.R244R		Atlas-SNP	.											.	SPNS3	52	.	0			c.G732A						PASS	.	G		513,3893	231.4+/-245.2	30,453,1720	46	40	42		732	2.1	1	17	dbSNP_120	42	3190,5410	475.0+/-369.0	584,2022,1694	no	coding-synonymous	SPNS3	NM_182538.4		614,2475,3414	AA,AG,GG		37.093,11.6432,28.4715		244/513	4351560	3703,9303	2203	4300	6503	SO:0001819	synonymous_variant	201305	exon6			CTTCAGGAGCAGC		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.732G>A	17.37:g.4351560G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	77	6	0.0779221	NM_182538	Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																			G|0.750;A|0.250	0.250	strong		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		A	4351560	G	A	4351560	2	1	3	1	0	0	0	0	0	0	0	1	15075	1165	41	2		2	SPNS3	17	4351560	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	694385	4351560	76843650	345	784										
PFN1	5216	hgsc.bcm.edu	37	chr17	4851557	4851557	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	accgcgcaggcctcgcagtaCcgtgatgttgacgaacgttt	12	12	0	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:4851557C>T	ENST00000225655.5	-	1	752		c.e1+1		ENO3_ENST00000323997.6_5'Flank|ENO3_ENST00000519584.1_5'Flank|PFN1_ENST00000574872.1_5'Flank	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCTCGCAGTACCGTGATGTTG	0.706																																					.		Atlas-SNP	.											.	PFN1	6	.	0			c.132+1G>A						PASS	.						50	46	48					17																	4851557		2203	4300	6503	SO:0001630	splice_region_variant	5216	exon2			GCAGTACCGTGAT	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.132+1G>A	17.37:g.4851557C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	23	10	0.434783	NM_005022	Q53Y44	Splice_Site	SNP	ENST00000225655.5	37	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986323	0.74589	.	.	ENSG00000108518	ENST00000225655	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1965	0.59740	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PFN1	4792302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.338000	0.59316	1.953000	0.56701	0.563000	0.77884	.	.	.	none		0.706	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022	Intron	T	4851557	C	T	4851557	5	4	3	1	0	0	0	0	0	0	1	0	11767	521	18	2	301	2	PFN1	17	4851557	Splice_Site	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	499997	4851557	76343653	346	785										
USP6	9098	hgsc.bcm.edu	37	chr17	5058808	5058808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tccatgcactgtgcatacccGgaagaaagacctatatgatg	9	10	0	3	rs9899177	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:5058808G>A	ENST00000574788.1	+	31	4965	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q	USP6_ENST00000250066.6_Missense_Mutation_p.R912Q|USP6_ENST00000304328.5_Missense_Mutation_p.R595Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	912	USP.		R -> Q (in dbSNP:rs9899177). {ECO:0000269|PubMed:1565468}.		cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTGCATACCCGGAAGAAAGAC	0.478			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G|||	1688	0.337061	0.1936	0.6052	5008	,	,		15543	0.1706		0.6034	False		,,,				2504	0.2382				p.R912Q		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	USP6_ENST00000250066,NS,carcinoma,-1,1	USP6	213	1	0			c.G2735A						scavenged	.	G	GLN/ARG	1292,3114	438.4+/-345.3	189,914,1100	178	155	163		2735	2.9	1	17	dbSNP_119	163	5474,3126	657.7+/-401.5	1744,1986,570	yes	missense	USP6	NM_004505.2	43	1933,2900,1670	AA,AG,GG		36.3488,29.3236,47.9779	probably-damaging	912/1407	5058808	6766,6240	2203	4300	6503	SO:0001583	missense	9098	exon23			ATACCCGGAAGAA	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2735G>A	17.37:g.5058808G>A	ENSP00000460380:p.Arg912Gln	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	221	4	0.0180995	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	867	0.39697802197802196	106	0.21544715447154472	220	0.6077348066298343	92	0.16083916083916083	449	0.5923482849604221	G	17.49	3.402406	0.62288	0.293236	0.636512	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13420	2.99;2.59	2.91	2.91	0.33838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.099183	0.64402	D	0.000002	T	0.00012	0.0000	L	0.55990	1.75	0.31282	P	0.69051	D;D	0.76494	0.996;0.999	P;P	0.60541	0.755;0.876	T	0.02966	-1.1088	9	0.07990	T	0.79	.	11.6235	0.51132	0.0:0.0:1.0:0.0	rs9899177;rs58814329;rs9899177	595;912	P35125-2;P35125	.;UBP6_HUMAN	Q	912;595	ENSP00000250066:R912Q;ENSP00000305473:R595Q	ENSP00000250066:R912Q	R	+	2	0	USP6	4999532	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.359000	0.73060	1.614000	0.50241	0.398000	0.26397	CGG	G|0.541;A|0.459	0.459	strong		0.478	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5058808	G	A	5058808	3	1	3	1	0	0	0	0	1	0	0	0	17083	1116	39	1	2821	1	USP6	17	5058808	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	207251	5058808	76136402	347	786										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386176	7386176	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtcctgcattccgaggtggtGgtggcccttatactgcagta	13	10	0	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:7386176G>C	ENST00000412468.2	+	2	988	c.873G>C	c.(871-873)gtG>gtC	p.V291V	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	291	EamA 2.					integral component of membrane (GO:0016021)											CCGAGGTGGTGGTGGCCCTTA	0.582																																					p.V291V		Atlas-SNP	.											POLR2A_ENST00000412468,NS,haematopoietic_neoplasm,0,1	.	.	1	0			c.G873C						scavenged	.						197	182	187					17																	7386176		2203	4300	6503	SO:0001819	synonymous_variant	643664	exon2			GGTGGTGGTGGCC		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.873G>C	17.37:g.7386176G>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	80	9	0.1125	NM_001102614		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																			.	.	alt		0.582	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386176	G	C	7386176	2	2	3	1	0	0	0	0	0	0	0	1	561	1335	47	4		4	AMAC1L3	17	7386176	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2327368	7386176	73809034	348	787										
TNFSF12	8742	hgsc.bcm.edu	37	chr17	7452542	7452542	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	accgccctgctggtcccgctCgcgctgggcctgggcctggc	15	18	0	0	rs77711855	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:7452542C>T	ENST00000293825.6	+	1	335	c.72C>T	c.(70-72)ctC>ctT	p.L24L	TNFSF12_ENST00000557233.1_Silent_p.L24L|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.L24L	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	24					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				TGGTCCCGCTCGCGCTGGGCC	0.791													C|||	560	0.111821	0.1944	0.0706	5008	,	,		9326	0.1151		0.0825	False		,,,				2504	0.0562				p.L24L		Atlas-SNP	.											.	TNFSF12	20	.	0			c.C72T						PASS	.	C	,	215,1795		0,215,790	1	1	1		72,72	-4.8	0.7	17	dbSNP_132	1	261,3683		4,253,1715	no	coding-synonymous,coding-synonymous	TNFSF12,TNFSF12-TNFSF13	NM_003809.2,NM_172089.3	,	4,468,2505	TT,TC,CC		6.6176,10.6965,7.9946	,	24/250,24/331	7452542	476,5478	1005	1972	2977	SO:0001819	synonymous_variant	8742	exon1			CCCGCTCGCGCTG	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.72C>T	17.37:g.7452542C>T		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	9	6	0.666667	NM_003809	Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	CCDS11109.1																																																																																			C|0.883;T|0.117	0.117	strong		0.791	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		T	7452542	C	T	7452542	2	4	3	1	0	0	0	0	0	0	0	1	16300	871	31	1		1	TNFSF12	17	7452542	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	66366	7452542	73742668	349	788										
EVPLL	645027	hgsc.bcm.edu	37	chr17	18291559	18291559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtccatcttcctctcctcaTtgactctgcatgaaggggat	8	12	4	2	rs9890369	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:18291559T>C	ENST00000399134.4	+	10	1261	c.903T>C	c.(901-903)caT>caC	p.H301H	EVPLL_ENST00000583003.1_3'UTR|RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	301										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCTCTCCTCATTGACTCTGCA	0.463													.|||	1328	0.265176	0.4342	0.2032	5008	,	,		12834	0.1637		0.1849	False		,,,				2504	0.2679				p.H301H		Atlas-SNP	.											EVPLL,NS,NS,+2,1	EVPLL	10	1	0			c.T903C						scavenged	.	T		503,881		91,321,280	73	63	66		903	0.1	0	17	dbSNP_119	66	659,2523		64,531,996	no	coding-synonymous	EVPLL	NM_001145127.1		155,852,1276	CC,CT,TT		20.7102,36.3439,25.449		301/302	18291559	1162,3404	692	1591	2283	SO:0001819	synonymous_variant	645027	exon10			TCCTCATTGACTC		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.903T>C	17.37:g.18291559T>C		Somatic	687	4	0.00582242		WXS	Illumina HiSeq	Phase_I	545	7	0.012844	NM_001145127	B4DPD4	Silent	SNP	ENST00000399134.4	37	CCDS45626.1																																																																																			T|0.770;C|0.230	0.230	strong		0.463	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		C	18291559	T	C	18291559	2	2	3	1	0	0	0	0	0	0	0	1	5293	1490	52	2		2	EVPLL	17	18291559	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	10839017	18291559	62903651	350	789										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18565423	18565423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acactcactacatttgtacgGtttctttccaatatgaattc	4	10	2	1	rs9912852	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:18565423G>A	ENST00000545289.1	-	5	1646	c.1396C>T	c.(1396-1398)Ccg>Tcg	p.P466S	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	466					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(1)|lung(1)	2						CATTTGTACGGTTTCTTTCCA	0.393													.|||	1375	0.274561	0.2027	0.4496	5008	,	,		22033	0.1935		0.4066	False		,,,				2504	0.1953				p.P466S		Atlas-SNP	.											ZNF286B_ENST00000545289,colon,carcinoma,+2,2	ZNF286B	75	2	0			c.C1396T						scavenged	.	G	SER/PRO	333,1051		41,251,400	137	131	133		1396	2.6	1	17	dbSNP_119	133	1243,1939		237,769,585	no	missense	ZNF286B	NM_001145045.1	74	278,1020,985	AA,AG,GG		39.0635,24.0607,34.516	probably-damaging	466/523	18565423	1576,2990	692	1591	2283	SO:0001583	missense	729288	exon5			TGTACGGTTTCTT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1396C>T	17.37:g.18565423G>A	ENSP00000461413:p.Pro466Ser	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	215	5	0.0232558	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			G|0.698;A|0.302	0.302	strong		0.393	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		A	18565423	G	A	18565423	3	1	3	1	0	0	0	0	1	0	0	0	17821	1261	44	2	176	2	ZNF286B	17	18565423	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	273864	18565423	62629787	351	790										
NUFIP2	57532	hgsc.bcm.edu	37	chr17	27613677	27613677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaatctgtcccagaagagatGggtgttagagtattagcagc	13	6	1	3	rs12452857	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:27613677G>A	ENST00000225388.4	-	2	1393	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	445						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAGAAGAGATGGGTGTTAGAG	0.433													G|||	772	0.154153	0.0371	0.2839	5008	,	,		20061	0.0119		0.2773	False		,,,				2504	0.2403				p.P445P		Atlas-SNP	.											.	NUFIP2	60	.	0			c.C1335T						PASS	.	G		333,4073	174.4+/-204.0	7,319,1877	81	81	81		1335	4.1	1	17	dbSNP_120	81	2433,6167	401.1+/-347.0	365,1703,2232	no	coding-synonymous	NUFIP2	NM_020772.2		372,2022,4109	AA,AG,GG		28.2907,7.5579,21.2671		445/696	27613677	2766,10240	2203	4300	6503	SO:0001819	synonymous_variant	57532	exon2			AGAGATGGGTGTT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1335C>T	17.37:g.27613677G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	108	7	0.0648148	NM_020772	A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	CCDS32600.1																																																																																			G|0.815;A|0.185	0.185	strong		0.433	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		A	27613677	G	A	27613677	2	1	3	1	0	0	0	0	0	0	0	1	10749	1335	47	2		2	NUFIP2	17	27613677	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	9048254	27613677	53581533	352	791										
KRTAP9-4	85280	hgsc.bcm.edu	37	chr17	39406409	39406409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttccagcccacctgtgtgtCcagctgctgtcagccttttt	8	15	1	0	rs2191379	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:39406409C>A	ENST00000334109.2	+	1	471	c.437C>A	c.(436-438)tCc>tAc	p.S146Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	146	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		S -> Y (in dbSNP:rs62065349). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCTGTGTGTCCAGCTGCTGT	0.552													.|||	3385	0.675919	0.5053	0.8012	5008	,	,		21709	0.631		0.7336	False		,,,				2504	0.8047				p.S146Y		Atlas-SNP	.											.	KRTAP9-4	30	.	0			c.C437A						PASS	.	C	TYR/SER	2292,2114		611,1070,522	169	170	170		437	1.4	0	17	dbSNP_96	170	6228,2372		2222,1784,294	no	missense	KRTAP9-4	NM_033191.2	144	2833,2854,816	AA,AC,CC		27.5814,47.98,34.4918	benign	146/155	39406409	8520,4486	2203	4300	6503	SO:0001583	missense	85280	exon1			GTGTGTCCAGCTG	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"Keratin associated proteins"	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.437C>A	17.37:g.39406409C>A	ENSP00000334922:p.Ser146Tyr	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	242	12	0.0495868	NM_033191	Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	CCDS11386.1	1460	0.6684981684981685	257	0.5223577235772358	282	0.7790055248618785	368	0.6433566433566433	553	0.7295514511873351	.	10.72	1.429114	0.25726	0.5202	0.724186	ENSG00000241595	ENST00000334109	T	0.01126	5.3	2.38	1.38	0.22167	.	.	.	.	.	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	B	0.31769	0.339	B	0.28709	0.093	T	0.01382	-1.1369	8	0.39692	T	0.17	.	4.3378	0.11095	0.0:0.7905:0.0:0.2095	rs62065349	146	Q9BYQ2	KRA94_HUMAN	Y	146	ENSP00000334922:S146Y	ENSP00000334922:S146Y	S	+	2	0	KRTAP9-4	36659935	0.947000	0.32204	0.008000	0.14137	0.507000	0.33981	-0.100000	0.10990	0.535000	0.28714	0.393000	0.25936	TCC	C|0.336;A|0.664	0.664	strong		0.552	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			A	39406409	C	A	39406409	3	1	3	1	0	0	0	0	1	0	0	0	8575	855	30	4	439	4	KRTAP9-4	17	39406409	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	11792732	39406409	41788801	353	792										
KRT13	3860	hgsc.bcm.edu	37	chr17	39661359	39661359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	taggggctgtagtcccgctcAgggctagctgggctctgctt	15	11	2	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:39661359A>G	ENST00000246635.3	-	1	490	c.444T>C	c.(442-444)ccT>ccC	p.P148P	KRT13_ENST00000336861.3_Silent_p.P148P|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.P148P	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	148	Linker 1.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGTCCCGCTCAGGGCTAGCTG	0.617																																					p.P148P		Atlas-SNP	.											.	KRT13	72	.	0			c.T444C						PASS	.						100	92	94					17																	39661359		2203	4300	6503	SO:0001819	synonymous_variant	3860	exon1			CCGCTCAGGGCTA		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.444T>C	17.37:g.39661359A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	58	20	0.344828	NM_002274	Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	CCDS11396.1																																																																																			.	.	none		0.617	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		G	39661359	A	G	39661359	2	3	3	1	0	0	0	0	0	0	0	1	8450	175	7	3		3	KRT13	17	39661359	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	254950	39661359	41533851	354	793										
PNPO	55163	hgsc.bcm.edu	37	chr17	46020698	46020698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaggagactcatctgacctcCcttgacccagtgaaacagtt	9	12	2	4	rs11079804	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:46020698C>T	ENST00000225573.4	+	2	270	c.165C>T	c.(163-165)tcC>tcT	p.S55S	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|PNPO_ENST00000534893.1_Intron|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Silent_p.S55S|PNPO_ENST00000544840.1_Silent_p.S55S	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	55					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						ATCTGACCTCCCTTGACCCAG	0.463													C|||	814	0.16254	0.0537	0.2176	5008	,	,		20122	0.1617		0.162	False		,,,				2504	0.272				p.S55S		Atlas-SNP	.											PNPO,NS,adenoma,0,1	PNPO	18	1	0			c.C165T						scavenged	.	C		330,4076	176.6+/-205.7	19,292,1892	140	111	120		165	-3.7	1	17	dbSNP_120	120	1469,7131	279.4+/-293.9	137,1195,2968	no	coding-synonymous	PNPO	NM_018129.3		156,1487,4860	TT,TC,CC		17.0814,7.4898,13.8321		55/262	46020698	1799,11207	2203	4300	6503	SO:0001819	synonymous_variant	55163	exon2			GACCTCCCTTGAC	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.165C>T	17.37:g.46020698C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_018129	B4E0V0|B4E152|B4E1D7|D3DTT9	Silent	SNP	ENST00000225573.4	37	CCDS11522.1																																																																																			C|0.855;T|0.145	0.145	strong		0.463	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		T	46020698	C	T	46020698	2	4	3	1	0	0	0	0	0	0	0	1	12172	610	22	2		2	PNPO	17	46020698	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6359339	46020698	35174512	355	794										
CACNA1G	8913	hgsc.bcm.edu	37	chr17	48674136	48674136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gctgcggaagagcctgctgcCgcctctcatcatccacacgg	11	16	2	1	rs573756072		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:48674136C>T	ENST00000359106.5	+	16	3110	c.3110C>T	c.(3109-3111)cCg>cTg	p.P1037L	CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P1014L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1014L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1037L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1037L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1014L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1014L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1014L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1037L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1014L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1014L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1014L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1037L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1037L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1037L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1037					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCCTGCTGCCGCCTCTCATC	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		13405	0.0		0.001	False		,,,				2504	0.0				p.P1037L		Atlas-SNP	.											.	CACNA1G	659	.	0			c.C3110T						PASS	.						17	21	20					17																	48674136		2090	4220	6310	SO:0001583	missense	8913	exon16			TGCTGCCGCCTCT	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3110C>T	17.37:g.48674136C>T	ENSP00000352011:p.Pro1037Leu	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	37	13	0.351351	NM_001256360	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.262675	0.80358	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	4.78	4.78	0.61160	.	0.494671	0.21871	N	0.067899	D	0.92971	0.7763	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;P;D;D;D;P;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.99;1.0;0.999;0.627;0.827;0.995;1.0;1.0;0.953;1.0;0.98;0.982;0.744	D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;B;B;P;D;D;P;D;P;P;B	0.91635	0.994;0.957;0.999;0.997;0.999;0.999;0.996;0.999;0.996;0.957;0.999;0.926;0.971;0.87;0.999;0.952;0.053;0.18;0.867;0.995;0.992;0.481;0.999;0.579;0.459;0.115	D	0.93116	0.6521	10	0.62326	D	0.03	.	12.8738	0.57980	0.1627:0.8373:0.0:0.0	.	1014;1037;1037;1037;1037;1037;1037;1037;1037;1037;1037;1014;1037;1037;1037;1037;1037;1014;1037;1014;1014;1014;1014;1037;1014;1037	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	L	1014;1014;1037;1014;1014;1014;1037;1037;1014;1037;1037;1037;1037;1037;1037;1014;1037;1037;1037;1037;1014;1037;1037;1037;1037;1037	ENSP00000353990:P1014L;ENSP00000339302:P1014L;ENSP00000392390:P1037L;ENSP00000347078:P1014L;ENSP00000409759:P1014L;ENSP00000425522:P1014L;ENSP00000426261:P1037L;ENSP00000425451:P1037L;ENSP00000422407:P1014L;ENSP00000426814:P1037L;ENSP00000427238:P1037L;ENSP00000423112:P1037L;ENSP00000420918:P1037L;ENSP00000426172:P1037L;ENSP00000423045:P1037L;ENSP00000427173:P1014L;ENSP00000426098:P1037L;ENSP00000425698:P1037L;ENSP00000426232:P1037L;ENSP00000423317:P1037L;ENSP00000350979:P1014L;ENSP00000352011:P1037L;ENSP00000414388:P1037L;ENSP00000423155:P1037L;ENSP00000422268:P1037L;ENSP00000421518:P1037L	ENSP00000339302:P1014L	P	+	2	0	CACNA1G	46029135	1.000000	0.71417	0.592000	0.28758	0.943000	0.58893	7.487000	0.81328	2.210000	0.71456	0.491000	0.48974	CCG	.	.	none		0.711	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48674136	C	T	48674136	3	4	3	1	0	0	0	0	1	0	0	0	2544	652	23	1	3172	1	CACNA1G	17	48674136	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2653438	48674136	32521074	356	795										
BRIP1	83990	hgsc.bcm.edu	37	chr17	59763465	59763465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttggaaaattcagccaaggaTtccagtgcactttcaaaggt	9	8	2	0	rs4986765	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:59763465T>C	ENST00000259008.2	-	19	2904	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	BRIP1_ENST00000577598.1_Silent_p.E879E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	879					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						CAGCCAAGGATTCCAGTGCAC	0.383			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					C|||	4082	0.815096	0.941	0.8285	5008	,	,		18241	0.9127		0.6531	False		,,,				2504	0.7014				p.E879E		Atlas-SNP	.	yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	BRIP1_ENST00000259008,NS,carcinoma,0,2	BRIP1	237	2	0			c.A2637G						scavenged	.	C		3913,493	225.9+/-241.6	1734,445,24	96	106	103		2637	2.8	1	17	dbSNP_111	103	5637,2963	459.2+/-364.8	1859,1919,522	no	coding-synonymous	BRIP1	NM_032043.2		3593,2364,546	CC,CT,TT		34.4535,11.1893,26.5724		879/1250	59763465	9550,3456	2203	4300	6503	SO:0001819	synonymous_variant	83990	exon19			CAAGGATTCCAGT	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.2637A>G	17.37:g.59763465T>C		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	183	6	0.0327869	NM_032043	Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	CCDS11631.1																																																																																			T|0.221;C|0.779	0.779	strong		0.383	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		C	59763465	T	C	59763465	2	2	3	1	0	0	0	0	0	0	0	1	1514	1490	52	2		2	BRIP1	17	59763465	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	11089329	59763465	21431745	357	796										
RECQL5	9400	hgsc.bcm.edu	37	chr17	73654377	73654377	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttctactgcccaagccttaCctggagttttgctacttcct	6	14	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:73654377C>T	ENST00000317905.5	-	7	1309		c.e7+1		RECQL5_ENST00000340830.5_Splice_Site|RECQL5_ENST00000584999.1_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000420326.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAAGCCTTACCTGGAGTTTT	0.502								Other identified genes with known or suspected DNA repair function																													.		Atlas-SNP	.											.	RECQL5	77	.	0			c.1149+1G>A						PASS	.						196	185	189					17																	73654377		2203	4300	6503	SO:0001630	splice_region_variant	9400	exon8			GCCTTACCTGGAG	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1149+1G>A	17.37:g.73654377C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	55	18	0.327273	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679018	0.47886	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RECQL5	71165972	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	7.003000	0.76310	2.765000	0.95021	0.655000	0.94253	.	.	.	none		0.502	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	Intron	T	73654377	C	T	73654377	5	4	3	1	0	0	0	0	0	0	1	0	13203	521	18	2	1968	2	RECQL5	17	73654377	Splice_Site	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	13890912	73654377	7540833	358	797										
SOCS3	9021	hgsc.bcm.edu	37	chr17	76354835	76354835	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agcacgcagtcgaagcggggCacgggctgcgtgctccgggg	19	12	0	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:76354835C>A	ENST00000330871.2	-	2	757	c.342G>T	c.(340-342)gtG>gtT	p.V114V	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	114	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CGAAGCGGGGCACGGGCTGCG	0.667																																					p.V114V		Atlas-SNP	.											.	SOCS3	16	.	0			c.G342T						PASS	.						29	30	30					17																	76354835		2201	4298	6499	SO:0001819	synonymous_variant	9021	exon2			GCGGGGCACGGGC	AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.342G>T	17.37:g.76354835C>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_003955	O14509	Silent	SNP	ENST00000330871.2	37	CCDS11756.1																																																																																			.	.	none		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			A	76354835	C	A	76354835	2	1	3	1	0	0	0	0	0	0	0	1	14915	697	25	4		4	SOCS3	17	76354835	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2700458	76354835	4840375	359	798										
AATK	9625	hgsc.bcm.edu	37	chr17	79098602	79098602	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaccagctctggcgcgatcCagcgcagaggcacccacagc	11	18	1	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:79098602C>T	ENST00000326724.4	-	9	911	c.887G>A	c.(886-888)tGg>tAg	p.W296*	AATK_ENST00000572339.1_5'Flank|MIR338_ENST00000390137.2_RNA|AATK_ENST00000417379.1_Nonsense_Mutation_p.W193*|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCGCGATCCAGCGCAGAGG	0.667																																					p.W296X		Atlas-SNP	.											.	AATK	102	.	0			c.G887A						PASS	.						36	43	40					17																	79098602		2171	4255	6426	SO:0001587	stop_gained	9625	exon9			GCGATCCAGCGCA	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.887G>A	17.37:g.79098602C>T	ENSP00000324196:p.Trp296*	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_001080395	O75136|Q6ZN31|Q86X28	Nonsense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.718074|6.718074	0.97784|0.97784	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724;ENST00000374792	.|.	.|.	.|.	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33317|.	-0.9873|.	3|.	.|0.02654	.|T	.|1	.|.	14.7321|14.7321	0.69388|0.69388	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	249|296	.|.	.|ENSP00000324196:W296X	G|W	-|-	1|2	0|0	AATK|AATK	76713197|76713197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	5.431000|5.431000	0.66507|0.66507	1.982000|1.982000	0.57802|0.57802	0.591000|0.591000	0.81541|0.81541	GGA|TGG	.	.	none		0.667	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79098602	C	T	79098602	4	4	3	1	0	0	0	0	0	1	0	0	26	595	21	2	3261	2	AATK	17	79098602	Nonsense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2743767	79098602	2096608	360	799										
ACTG1	71	hgsc.bcm.edu	37	chr17	79478007	79478007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atctccttctgcatcctgtcGgcaatgcccgggtacatggt	10	13	2	0	rs1135989	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:79478007G>A	ENST00000575842.1	-	4	1356	c.930C>T	c.(928-930)gcC>gcT	p.A310A	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.A310A|ACTG1_ENST00000573283.1_Silent_p.A310A|ACTG1_ENST00000331925.2_Silent_p.A310A			P63261	ACTG_HUMAN	actin, gamma 1	310					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCATCCTGTCGGCAATGCCCG	0.612													g|||	928	0.185304	0.1505	0.2522	5008	,	,		20969	0.005		0.3966	False		,,,				2504	0.1534				p.A310A		Atlas-SNP	.											.	ACTG1	55	.	0			c.C930T						PASS	.	G	,	852,3554	331.0+/-301.8	89,674,1440	67	64	65		930,930	-6.6	0.6	17	dbSNP_86	65	3263,5337	483.9+/-371.3	603,2057,1640	no	coding-synonymous,coding-synonymous	ACTG1	NM_001199954.1,NM_001614.3	,	692,2731,3080	AA,AG,GG		37.9419,19.3373,31.6392	,	310/376,310/376	79478007	4115,8891	2203	4300	6503	SO:0001819	synonymous_variant	71	exon5			CCTGTCGGCAATG		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.930C>T	17.37:g.79478007G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_001614	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	CCDS11782.1																																																																																			G|0.711;A|0.289	0.289	strong		0.612	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		A	79478007	G	A	79478007	2	1	3	1	0	0	0	0	0	0	0	1	196	1103	39	1		1	ACTG1	17	79478007	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	379405	79478007	1717203	361	800										
CCDC57	284001	hgsc.bcm.edu	37	chr17	80085633	80085633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccaggtctagcaacctccacAtgtcctggagggtgccactg	11	14	1	0	rs11077969	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr17:80085633A>G	ENST00000389641.4	-	17	2537	c.2501T>C	c.(2500-2502)aTg>aCg	p.M834T	CCDC57_ENST00000392346.2_Missense_Mutation_p.M191T|CCDC57_ENST00000392347.1_Missense_Mutation_p.M834T			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	834			M -> T (in dbSNP:rs11077969).							endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CAACCTCCACATGTCCTGGAG	0.637													G|||	2112	0.421725	0.5613	0.3746	5008	,	,		18607	0.1369		0.5169	False		,,,				2504	0.4622				p.M833T		Atlas-SNP	.											CCDC57_ENST00000389641,NS,carcinoma,0,4	CCDC57	102	4	0			c.T2498C						PASS	.	G	THR/MET	2405,1601		711,983,309	77	82	80		2498	0.9	0.1	17	dbSNP_120	80	4753,3557		1379,1995,781	yes	missense	CCDC57	NM_198082.2	81	2090,2978,1090	GG,GA,AA		42.8039,39.9651,41.8805	benign	833/916	80085633	7158,5158	2003	4155	6158	SO:0001583	missense	284001	exon16			CTCCACATGTCCT	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2501T>C	17.37:g.80085633A>G	ENSP00000374292:p.Met834Thr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	4	0.0597015	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		868	0.3974358974358974	244	0.4959349593495935	147	0.40607734806629836	78	0.13636363636363635	399	0.5263852242744064	G	0.012	-1.673956	0.00758	0.600349	0.571961	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392346;ENST00000324808	T;T;T	0.11277	3.35;3.35;2.79	4.63	0.854	0.19007	.	1.070970	0.07363	N	0.884489	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42224	-0.9464	9	0.02654	T	1	-4.3155	6.5739	0.22553	0.565:0.0:0.435:0.0	rs11077969;rs59203051;rs11077969	140;834	E7ENZ0;Q2TAC2	.;CCD57_HUMAN	T	834;834;191;140	ENSP00000374292:M834T;ENSP00000376158:M834T;ENSP00000376157:M191T	ENSP00000315223:M140T	M	-	2	0	CCDC57	77678922	0.169000	0.23002	0.110000	0.21437	0.006000	0.05464	0.313000	0.19415	0.071000	0.16664	-0.320000	0.08662	ATG	A|0.582;G|0.418	0.418	strong		0.637	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		G	80085633	A	G	80085633	3	3	3	1	0	0	0	0	1	0	0	0	2827	217	8	2	257	2	CCDC57	17	80085633	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	607626	80085633	1109577	362	801										
KLHL14	57565	hgsc.bcm.edu	37	chr18	30257203	30257203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctgcacagccagggccacttCgaccctccaaaatgggagtt	10	14	0	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr18:30257203C>T	ENST00000359358.4	-	8	2117	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	560						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGGGCCACTTCGACCCTCCAA	0.473																																					p.R560Q		Atlas-SNP	.											KLHL14,colon,carcinoma,-1,2	KLHL14	92	2	0			c.G1679A						scavenged	.						164	137	146					18																	30257203		2203	4300	6503	SO:0001583	missense	57565	exon8			CCACTTCGACCCT	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1679G>A	18.37:g.30257203C>T	ENSP00000352314:p.Arg560Gln	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	166	3	0.0180723	NM_020805	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004839	0.54254	.	.	ENSG00000197705	ENST00000359358	D	0.85773	-2.03	5.73	5.73	0.89815	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	L	0.60904	1.88	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88070	0.2800	10	0.30854	T	0.27	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	560	Q9P2G3	KLH14_HUMAN	Q	560	ENSP00000352314:R560Q	ENSP00000352314:R560Q	R	-	2	0	KLHL14	28511201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.439000	0.80444	2.854000	0.98071	0.655000	0.94253	CGA	.	.	none		0.473	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			T	30257203	C	T	30257203	3	4	3	1	0	0	0	0	1	0	0	0	8370	884	31	1	215	1	KLHL14	18	30257203	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		30257203	47820045	363	802										
PIGN	23556	hgsc.bcm.edu	37	chr18	59810563	59810563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttgacatctagcctcttccaAttctccaatctccactctga	3	15	5	2	rs34227891	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr18:59810563A>G	ENST00000357637.5	-	11	1354	c.939T>C	c.(937-939)aaT>aaC	p.N313N	PIGN_ENST00000400334.3_Silent_p.N313N	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	313					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCTCTTCCAATTCTCCAATC	0.299													G|||	872	0.174121	0.1906	0.1671	5008	,	,		15670	0.0764		0.2972	False		,,,				2504	0.1309				p.N313N		Atlas-SNP	.											PIGN,NS,carcinoma,0,1	PIGN	62	1	0			c.T939C						scavenged	.	G	,	759,2851		79,601,1125	55	47	50		939,939	-3	0	18	dbSNP_126	50	2141,5965		283,1575,2195	no	coding-synonymous,coding-synonymous	PIGN	NM_012327.5,NM_176787.4	,	362,2176,3320	GG,GA,AA		26.4125,21.0249,24.7525	,	313/932,313/932	59810563	2900,8816	1805	4053	5858	SO:0001819	synonymous_variant	23556	exon11			CTTCCAATTCTCC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.939T>C	18.37:g.59810563A>G		Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	446	5	0.0112108	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																			A|0.789;G|0.211	0.211	strong		0.299	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		G	59810563	A	G	59810563	2	3	3	1	0	0	0	0	0	0	0	1	11893	98	4	2		2	PIGN	18	59810563	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	29553360	59810563	18266685	364	803										
CDH7	1005	hgsc.bcm.edu	37	chr18	63511176	63511176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtgaagataattgtggaagaTgtagatgagccccctgtgtt	13	5	0	5	rs2306675	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr18:63511176T>C	ENST00000397968.2	+	7	1536	c.1110T>C	c.(1108-1110)gaT>gaC	p.D370D	CDH7_ENST00000323011.3_Silent_p.D370D|CDH7_ENST00000536984.2_Silent_p.D370D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs2306675).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D370D(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGTGGAAGATGTAGATGAGC	0.502													T|||	932	0.186102	0.1528	0.2205	5008	,	,		12857	0.0377		0.3489	False		,,,				2504	0.1922				p.D370D		Atlas-SNP	.											CDH7,NS,carcinoma,0,1	CDH7	362	1	1	Substitution - coding silent(1)	stomach(1)	c.T1110C						scavenged	.	T	,	856,3550	334.9+/-303.7	88,680,1435	188	156	167		1110,1110	-7.5	0.8	18	dbSNP_100	167	2914,5686	455.7+/-363.9	488,1938,1874	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	576,2618,3309	CC,CT,TT		33.8837,19.4281,28.9866	,	370/786,370/786	63511176	3770,9236	2203	4300	6503	SO:0001819	synonymous_variant	1005	exon7			GGAAGATGTAGAT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1110T>C	18.37:g.63511176T>C		Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	183	6	0.0327869	NM_004361	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			T|0.756;C|0.244	0.244	strong		0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63511176	T	C	63511176	2	2	3	1	0	0	0	0	0	0	0	1	3115	1461	51	2		2	CDH7	18	63511176	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3700613	63511176	14566072	365	804										
ABCA7	10347	hgsc.bcm.edu	37	chr19	1046827	1046827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gcgtgtgctgagccggtcgcTgccgctcttcctgacgctgg	15	14	1	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:1046827T>C	ENST00000263094.6	+	14	1880	c.1649T>C	c.(1648-1650)cTg>cCg	p.L550P	ABCA7_ENST00000435683.2_Missense_Mutation_p.L412P|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Missense_Mutation_p.L550P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	550					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		AGCCGGTCGCTGCCGCTCTTC	0.697																																					p.L550P		Atlas-SNP	.											.	ABCA7	174	.	0			c.T1649C						PASS	.						18	16	17					19																	1046827		2119	4178	6297	SO:0001583	missense	10347	exon14			GGTCGCTGCCGCT	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1649T>C	19.37:g.1046827T>C	ENSP00000263094:p.Leu550Pro	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	23	6	0.26087	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	24.2	4.506096	0.85282	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.89270	-2.49;-2.49	5.06	5.06	0.68205	.	.	.	.	.	D	0.94988	0.8378	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.992	D	0.95706	0.8753	9	0.87932	D	0	.	12.7496	0.57300	0.0:0.0:0.0:1.0	.	412;550	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	P	550	ENSP00000263094:L550P;ENSP00000414062:L550P	ENSP00000263094:L550P	L	+	2	0	ABCA7	997827	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	7.824000	0.86668	1.915000	0.55452	0.454000	0.30748	CTG	.	.	none		0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		C	1046827	T	C	1046827	3	2	3	1	0	0	0	0	1	0	0	0	37	1580	55	3	1699	3	ABCA7	19	1046827	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10		1046827	58082156	366	805										
TCF3	6929	hgsc.bcm.edu	37	chr19	1646364	1646364	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggggtcctacctgaacctccGaactgcgccccggccaggga	13	16	0	1			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:1646364G>A	ENST00000262965.5	-	3	479	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TCF3_ENST00000395423.3_Silent_p.F45F|TCF3_ENST00000588136.1_Silent_p.F45F|TCF3_ENST00000344749.5_Silent_p.F45F	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	CTNNB1-binding. {ECO:0000250}.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CTGAACCTCCGAACTGCGCCC	0.697			T	"PBX1, HLF, TFPT"	pre B-ALL																																p.F45F		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.C135T						PASS	.						18	15	16					19																	1646364		1788	3411	5199	SO:0001819	synonymous_variant	6929	exon3			ACCTCCGAACTGC	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.135C>T	19.37:g.1646364G>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	145	6	0.0413793	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			.	.	none		0.697	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1646364	G	A	1646364	2	1	3	1	0	0	0	0	0	0	0	1	15691	1049	37	1		1	TCF3	19	1646364	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	599537	1646364	57482619	367	806										
TLE6	79816	hgsc.bcm.edu	37	chr19	2989697	2989697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctcaactgccaggccctggaTgccaacctggatgccaacct	9	16	1	0	rs6510730	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:2989697T>C	ENST00000246112.4	+	13	1359	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.D263D	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	386					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		AGGCcctggatgccaacctgg	0.642													t|||	1482	0.295927	0.6679	0.2104	5008	,	,		18258	0.0149		0.2942	False		,,,				2504	0.1452				p.D386D		Atlas-SNP	.											.	TLE6	68	.	0			c.T1158C						PASS	.	C	,	2677,1729	649.1+/-398.8	807,1063,333	70	74	73		1158,789	-5.1	0	19	dbSNP_116	73	2392,6208	398.0+/-345.9	334,1724,2242	no	coding-synonymous,coding-synonymous	TLE6	NM_001143986.1,NM_024760.2	,	1141,2787,2575	CC,CT,TT		27.814,39.2419,38.9743	,	386/573,263/450	2989697	5069,7937	2203	4300	6503	SO:0001819	synonymous_variant	79816	exon13			CCTGGATGCCAAC	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1158T>C	19.37:g.2989697T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_001143986	J3KMZ1	Silent	SNP	ENST00000246112.4	37	CCDS45910.1																																																																																			T|0.637;C|0.363	0.363	strong		0.642	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		C	2989697	T	C	2989697	2	2	3	1	0	0	0	0	0	0	0	1	15939	1461	51	2		2	TLE6	19	2989697	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1343333	2989697	56139286	368	807										
CELF5	60680	hgsc.bcm.edu	37	chr19	3224896	3224896	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctcttcgtgggccagatcccGcggcacctggacgagaagga	14	13	1	2	rs17852497	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:3224896G>C	ENST00000292672.2	+	1	196	c.159G>C	c.(157-159)ccG>ccC	p.P53P	CELF5_ENST00000541430.2_Silent_p.P53P	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCAGATCCCGCGGCACCTGG	0.677													G|||	873	0.174321	0.1104	0.1671	5008	,	,		3684	0.1984		0.2256	False		,,,				2504	0.1881				p.P53P		Atlas-SNP	.											CELF5,NS,carcinoma,0,1	CELF5	32	1	0			c.G159C						scavenged	.	G	,	632,3772		46,540,1616	21	20	20		159,159	-0.6	0.9	19	dbSNP_123	20	1751,6843		186,1379,2732	no	coding-synonymous,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	232,1919,4348	CC,CG,GG		20.3747,14.3506,18.3336	,	53/410,53/486	3224896	2383,10615	2202	4297	6499	SO:0001819	synonymous_variant	60680	exon1			GATCCCGCGGCAC	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.159G>C	19.37:g.3224896G>C		Somatic	230	5	0.0217391		WXS	Illumina HiSeq	Phase_I	173	13	0.0751445	NM_021938	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	CCDS12106.1																																																																																			G|0.815;C|0.185	0.185	strong		0.677	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		C	3224896	G	C	3224896	2	2	3	1	0	0	0	0	0	0	0	1	3219	1074	38	4		4	CELF5	19	3224896	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	235199	3224896	55904087	369	808										
MUC16	94025	hgsc.bcm.edu	37	chr19	9047271	9047271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagcatctttgatgcaccagGggagacagggagagttggaa	15	7	1	3			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:9047271G>A	ENST00000397910.4	-	5	34563	c.34360C>T	c.(34360-34362)Cct>Tct	p.P11454S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11456	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGCACCAGGGGAGACAGGG	0.493																																					p.P11454S		Atlas-SNP	.											.	MUC16	4315	.	0			c.C34360T						PASS	.						173	169	170					19																	9047271		2012	4170	6182	SO:0001583	missense	94025	exon5			CACCAGGGGAGAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34360C>T	19.37:g.9047271G>A	ENSP00000381008:p.Pro11454Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	81	31	0.382716	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.483	0.274203	0.10403	.	.	ENSG00000181143	ENST00000397910	T	0.01947	4.54	3.21	-3.54	0.04653	.	.	.	.	.	T	0.02455	0.0075	L	0.55481	1.735	.	.	.	B	0.27166	0.17	B	0.28709	0.093	T	0.43475	-0.9389	8	0.87932	D	0	.	2.7963	0.05402	0.3391:0.0:0.2952:0.3658	.	11454	B5ME49	.	S	11454	ENSP00000381008:P11454S	ENSP00000381008:P11454S	P	-	1	0	MUC16	8908271	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.871000	0.00720	-0.590000	0.05866	-1.173000	0.01734	CCT	.	.	none		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9047271	G	A	9047271	3	1	3	1	0	0	0	0	1	0	0	0	9973	1232	43	2	9483	2	MUC16	19	9047271	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5822375	9047271	50081712	370	809										
MUC16	94025	hgsc.bcm.edu	37	chr19	9090531	9090531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtattcaaagttccttctgtTtcctttccactcgtggagtg	8	10	2	0	rs12976721	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:9090531T>C	ENST00000397910.4	-	1	1487	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	428	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E428E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTTCTGTTTCCTTTCCAC	0.502													T|||	1082	0.216054	0.27	0.2248	5008	,	,		21630	0.0228		0.3091	False		,,,				2504	0.2403				p.E428E		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,0,2	MUC16	4315	2	2	Substitution - coding silent(2)	prostate(2)	c.A1284G						scavenged	.	T		1019,2945		145,729,1108	152	141	145		1284	-2.8	0	19	dbSNP_121	145	2733,5603		459,1815,1894	no	coding-synonymous	MUC16	NM_024690.2		604,2544,3002	CC,CT,TT		32.7855,25.7064,30.5041		428/14508	9090531	3752,8548	1982	4168	6150	SO:0001819	synonymous_variant	94025	exon1			TTCTGTTTCCTTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1284A>G	19.37:g.9090531T>C		Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	78	3	0.0384615	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			T|0.772;C|0.228	0.228	strong		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9090531	T	C	9090531	2	2	3	1	0	0	0	0	0	0	0	1	9973	1838	64	2		2	MUC16	19	9090531	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	43260	9090531	50038452	371	810										
ZNF700	90592	hgsc.bcm.edu	37	chr19	12059467	12059467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttattttccattcaagcattCgaagacacatggtaatgcac	6	9	1	1	rs73509026	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:12059467C>G	ENST00000254321.5	+	4	771	c.628C>G	c.(628-630)Cga>Gga	p.R210G	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R192G	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAAGCATTCGAAGACACAT	0.383													c|||	318	0.0634984	0.1505	0.0288	5008	,	,		21685	0.0218		0.0378	False		,,,				2504	0.0399				p.R213G		Atlas-SNP	.											ZNF700,NS,carcinoma,-1,1	ZNF700	81	1	0			c.C637G						scavenged	.	C	GLY/ARG	584,3822	254.0+/-259.7	38,508,1657	89	93	92		628	0.6	0	19	dbSNP_130	92	256,8344	99.7+/-161.2	2,252,4046	yes	missense	ZNF700	NM_144566.1	125	40,760,5703	GG,GC,CC		2.9767,13.2547,6.4586	probably-damaging	210/743	12059467	840,12166	2203	4300	6503	SO:0001583	missense	90592	exon4			AGCATTCGAAGAC	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.628C>G	19.37:g.12059467C>G	ENSP00000254321:p.Arg210Gly	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	155	4	0.0258065	NM_001271848	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	123	0.05631868131868132	67	0.13617886178861788	13	0.03591160220994475	16	0.027972027972027972	27	0.03562005277044855	c	9.486	1.099434	0.20552	0.132547	0.029767	ENSG00000196757	ENST00000254321	T	0.07114	3.22	0.554	0.554	0.17241	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.63169	1.94	0.09310	N	1	P	0.51057	0.941	P	0.50708	0.648	T	0.31110	-0.9955	9	0.21540	T	0.41	.	3.5609	0.07882	0.4412:0.5587:1.0E-4:0.0	.	210	Q9H0M5	ZN700_HUMAN	G	210	ENSP00000254321:R210G	ENSP00000254321:R210G	R	+	1	2	ZNF700	11920467	0.000000	0.05858	0.032000	0.17829	0.334000	0.28698	-1.823000	0.01710	0.535000	0.28714	0.305000	0.20034	CGA	C|0.940;G|0.060	0.060	strong		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		G	12059467	C	G	12059467	3	3	3	1	0	0	0	0	1	0	0	0	18101	876	31	4	642	4	ZNF700	19	12059467	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	2968936	12059467	47069516	372	811										
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186148	12186148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agtcttctgggagagagagtTgatgaaaatacagaagaaaa	12	3	2	6	rs10424893	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:12186148T>C	ENST00000439326.3	+	4	388	c.213T>C	c.(211-213)gtT>gtC	p.V71V	ZNF844_ENST00000441304.2_Missense_Mutation_p.L51S	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	71	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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAGAGTTGATGAAAATA	0.333													.|||	1421	0.283746	0.7035	0.1455	5008	,	,		15619	0.0863		0.161	False		,,,				2504	0.1442				p.V71V		Atlas-SNP	.											ZNF844,NS,NS,+2,1	ZNF844	69	1	0			c.T213C						PASS	.	C		839,545		256,327,109	64	61	62		213	-0.9	0	19	dbSNP_119	62	416,2766		25,366,1200	no	coding-synonymous	ZNF844	NM_001136501.1		281,693,1309	CC,CT,TT		13.0735,39.3786,27.4858		71/667	12186148	1255,3311	692	1591	2283	SO:0001819	synonymous_variant	284391	exon4			GAGAGTTGATGAA	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.213T>C	19.37:g.12186148T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	4	0.0555556	NM_001136501	Q5JPI8	Silent	SNP	ENST00000439326.3	37	CCDS45985.1	553	0.2532051282051282	319	0.6483739837398373	53	0.1464088397790055	54	0.0944055944055944	127	0.16754617414248021	t	0.777	-0.763841	0.02996	0.606214	0.130735	ENSG00000223547	ENST00000441304	T	0.01821	4.62	1.56	-0.936	0.10419	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.04551	-1.0943	5	0.45353	T	0.12	.	3.1725	0.06558	0.3397:0.4089:0.0:0.2514	rs10424893;rs10424893	.	.	.	S	51	ENSP00000402097:L51S	ENSP00000402097:L51S	L	+	2	0	ZNF844	12047148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.757000	0.04772	-0.637000	0.05516	-1.222000	0.01597	TTG	T|0.725;C|0.275	0.275	strong		0.333	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			C	12186148	T	C	12186148	2	2	3	1	0	0	0	0	0	0	0	1	18187	1799	63	2		2	ZNF844	19	12186148	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	126681	12186148	46942835	373	812										
TNPO2	30000	hgsc.bcm.edu	37	chr19	12822220	12822220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccgtgcgtgacttgtggaagCgtggcttgatgtcctgctca	14	10	1	2			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:12822220C>A	ENST00000592287.1	-	11	1115	c.1007G>T	c.(1006-1008)cGc>cTc	p.R336L	TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336L|TNPO2_ENST00000441499.1_Missense_Mutation_p.R336L|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336L|TNPO2_ENST00000425528.1_Missense_Mutation_p.R336L|TNPO2_ENST00000356861.5_Missense_Mutation_p.R336L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617																																					p.R336L		Atlas-SNP	.											TNPO2_ENST00000425528,NS,carcinoma,0,3	TNPO2	108	3	2	Substitution - Missense(2)	endometrium(2)	c.G1007T						scavenged	.						161	172	168					19																	12822220		2200	4290	6490	SO:0001583	missense	30000	exon11			TGGAAGCGTGGCT	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1007G>T	19.37:g.12822220C>A	ENSP00000468434:p.Arg336Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_013433	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327649	0.95733	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.89534	3.04	0.80722	D	1	D;D	0.67145	0.996;0.975	P;P	0.56612	0.802;0.453	D	0.85015	0.0908	10	0.87932	D	0	-3.8122	18.0401	0.89316	0.0:1.0:0.0:0.0	.	500;336	Q4LE60;O14787	.;TNPO2_HUMAN	L	500;336;336;336;336;336;336	ENSP00000407182:R336L;ENSP00000389648:R336L;ENSP00000397379:R336L;ENSP00000349321:R336L	ENSP00000349321:R336L	R	-	2	0	TNPO2	12683220	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	7.487000	0.81328	2.556000	0.86216	0.561000	0.74099	CGC	.	.	none		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		A	12822220	C	A	12822220	3	1	3	1	0	0	0	0	1	0	0	0	16333	768	27	4	1742	4	TNPO2	19	12822220	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	636072	12822220	46306763	374	813										
SLC35E1	79939	hgsc.bcm.edu	37	chr19	16666101	16666101	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ttggcgaccgagtagctcagGgggctaacgaggttgaggat	17	7	1	1	rs2287869	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:16666101G>C	ENST00000595753.1	-	5	881	c.864C>G	c.(862-864)ccC>ccG	p.P288P	CTD-3222D19.11_ENST00000597357.1_RNA|CTD-3222D19.2_ENST00000409035.1_Intron|SLC35E1_ENST00000593812.1_5'Flank	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	288					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						AGTAGCTCAGGGGGCTAACGA	0.572													G|||	2016	0.402556	0.0356	0.5058	5008	,	,		21284	0.5149		0.5368	False		,,,				2504	0.5716				p.P288P		Atlas-SNP	.											.	SLC35E1	48	.	0			c.C864G						PASS	.	G		520,3886	237.1+/-249.0	30,460,1713	150	111	124		864	-6.4	1	19	dbSNP_100	124	4939,3661	622.0+/-397.3	1436,2067,797	no	coding-synonymous	SLC35E1	NM_024881.4		1466,2527,2510	CC,CG,GG		42.5698,11.8021,41.9729		288/411	16666101	5459,7547	2203	4300	6503	SO:0001819	synonymous_variant	79939	exon5			GCTCAGGGGGCTA	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.864C>G	19.37:g.16666101G>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	86	5	0.0581395	NM_024881	Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	CCDS12346.2																																																																																			G|0.568;C|0.432	0.432	strong		0.572	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		C	16666101	G	C	16666101	2	2	3	1	0	0	0	0	0	0	0	1	14584	1219	43	4		4	SLC35E1	19	16666101	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3843881	16666101	42462882	375	814										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860860	16860860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacctcatcctctcagcttgCtcgggggcactgggggtttt	12	13	2	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:16860860C>T	ENST00000552788.1	+	4	1407	c.1407C>T	c.(1405-1407)tgC>tgT	p.C469C	NWD1_ENST00000549814.1_Silent_p.C469C|NWD1_ENST00000523826.1_Silent_p.C263C|NWD1_ENST00000339803.6_Silent_p.C334C|NWD1_ENST00000379808.3_Silent_p.C469C|NWD1_ENST00000524140.2_Silent_p.C469C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	469	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCAGCTTGCTCGGGGGCAC	0.637																																					p.C469C		Atlas-SNP	.											NWD1_ENST00000524140,NS,neuroblastoma,+2,2	NWD1	303	2	0			c.C1407T						PASS	.						65	68	67					19																	16860860		2203	4300	6503	SO:0001819	synonymous_variant	284434	exon6			AGCTTGCTCGGGG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1407C>T	19.37:g.16860860C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	82	22	0.268293	NM_001007525	C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																				.	.	none		0.637	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16860860	C	T	16860860	2	4	3	1	0	0	0	0	0	0	0	1	10781	805	28	2		2	NWD1	19	16860860	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	194759	16860860	42268123	376	815										
IFI30	10437	hgsc.bcm.edu	37	chr19	18285944	18285944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agcactgtgcggtggctgccGagccttcctgatccgggagc	15	13	0	1	rs11554159	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:18285944G>A	ENST00000407280.3	+	2	402	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	76				R -> Q (in Ref. 7; AAH31020). {ECO:0000305}.	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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTGGCTGCCGAGCCTTCCTG	0.582													G|||	910	0.181709	0.2398	0.1816	5008	,	,		19461	0.0655		0.2704	False		,,,				2504	0.1319				p.R76Q		Atlas-SNP	.											.	IFI30	12	.	0			c.G227A						PASS	.	G	GLN/ARG	905,3225		94,717,1254	41	46	44		227	4.2	0.5	19	dbSNP_120	44	2157,6253		274,1609,2322	yes	missense	IFI30	NM_006332.3	43	368,2326,3576	AA,AG,GG		25.648,21.9128,24.4179	probably-damaging	76/251	18285944	3062,9478	2065	4205	6270	SO:0001583	missense	10437	exon2			GCTGCCGAGCCTT	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.227G>A	19.37:g.18285944G>A	ENSP00000384886:p.Arg76Gln	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_006332	Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	CCDS46015.1	424	0.19413919413919414	110	0.22357723577235772	74	0.20441988950276244	39	0.06818181818181818	201	0.26517150395778366	G	17.49	3.402221	0.62288	0.219128	0.25648	ENSG00000216490	ENST00000407280	.	.	.	5.25	4.22	0.49857	.	.	.	.	.	T	0.00012	0.0000	L	0.48642	1.525	0.20403	P	0.9999051197	D	0.69078	0.997	P	0.54629	0.757	T	0.05289	-1.0894	7	0.41790	T	0.15	-50.735	12.4977	0.55937	0.082:0.0:0.918:0.0	rs11554159;rs17852874;rs11554159	76	P13284	GILT_HUMAN	Q	76	.	ENSP00000384886:R76Q	R	+	2	0	IFI30	18146944	1.000000	0.71417	0.476000	0.27291	0.000000	0.00434	5.701000	0.68325	1.230000	0.43646	-0.339000	0.08088	CGA	G|0.789;A|0.211	0.211	strong		0.582	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		A	18285944	G	A	18285944	3	1	3	1	0	0	0	0	1	0	0	0	7515	1058	37	1	233	1	IFI30	19	18285944	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1425084	18285944	40843039	377	816										
PDE4C	5143	hgsc.bcm.edu	37	chr19	18329240	18329240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acattggcgtggtagtgaccTtccagcatcagcaggtaggt	13	9	1	1	rs1042050	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:18329240T>C	ENST00000355502.3	-	14	2005	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	PDE4C_ENST00000597297.1_Silent_p.E148E|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Silent_p.E378E|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Silent_p.E378E|PDE4C_ENST00000447275.3_Silent_p.E272E|PDE4C_ENST00000262805.12_Silent_p.E346E|PDE4C_ENST00000539010.1_Silent_p.E147E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	378					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E378>?(1)|p.E378E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGTAGTGACCTTCCAGCATCA	0.622													C|||	2103	0.419928	0.4516	0.5461	5008	,	,		18861	0.1687		0.6501	False		,,,				2504	0.3098				p.E378E		Atlas-SNP	.											PDE4C,NS,carcinoma,0,1	PDE4C	80	1	2	Complex(1)|Substitution - coding silent(1)	large_intestine(1)|stomach(1)	c.A1134G						PASS	.	C	,,	2088,2318	604.5+/-390.4	490,1108,605	161	155	157		1134,1038,816	1.4	0.1	19	dbSNP_86	157	5315,3285	491.7+/-373.1	1657,2001,642	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4C	NM_000923.4,NM_001098818.2,NM_001098819.2	,,	2147,3109,1247	CC,CT,TT		38.1977,47.3899,43.0801	,,	378/713,346/681,272/607	18329240	7403,5603	2203	4300	6503	SO:0001819	synonymous_variant	5143	exon11			GTGACCTTCCAGC		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1134A>G	19.37:g.18329240T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	83	5	0.060241	NM_000923	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	CCDS12373.1																																																																																			T|0.483;C|0.517	0.517	strong		0.622	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			C	18329240	T	C	18329240	2	2	3	1	0	0	0	0	0	0	0	1	11641	1606	56	3		3	PDE4C	19	18329240	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	43296	18329240	40799743	378	817										
ANKRD27	84079	hgsc.bcm.edu	37	chr19	33098632	33098632	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccccgtgcttcagcaggaggGggatgaggtccgcccggccg	17	14	1	1	rs2302970	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:33098632G>C	ENST00000306065.4	-	23	2440	c.2282C>G	c.(2281-2283)cCc>cGc	p.P761R	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	761			P -> R (in dbSNP:rs2302970). {ECO:0000269|PubMed:11230166}.		early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAGCAGGAGGGGGATGAGGTC	0.692													G|||	1328	0.265176	0.0537	0.3329	5008	,	,		15307	0.0923		0.5517	False		,,,				2504	0.3865				p.P761R		Atlas-SNP	.											.	ANKRD27	86	.	0			c.C2282G						PASS	.	G	ARG/PRO	593,3813	246.5+/-255.1	38,517,1648	38	34	35		2282	-0.6	0.2	19	dbSNP_100	35	4820,3780	578.0+/-390.6	1337,2146,817	yes	missense	ANKRD27	NM_032139.2	103	1375,2663,2465	CC,CG,GG		43.9535,13.4589,41.6193	benign	761/1051	33098632	5413,7593	2203	4300	6503	SO:0001583	missense	84079	exon23			AGGAGGGGGATGA	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2282C>G	19.37:g.33098632G>C	ENSP00000304292:p.Pro761Arg	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	127	6	0.0472441	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	644	0.2948717948717949	26	0.052845528455284556	138	0.3812154696132597	51	0.08916083916083917	429	0.5659630606860159	G	1.489	-0.555202	0.03967	0.134589	0.560465	ENSG00000105186	ENST00000306065	T	0.61627	0.09	5.7	-0.569	0.11756	Ankyrin repeat-containing domain (4);	0.316688	0.27379	N	0.019638	T	0.00012	0.0000	N	0.00453	-1.485	0.80722	P	0.0	B	0.11235	0.004	B	0.10450	0.005	T	0.48007	-0.9072	9	0.33141	T	0.24	-5.4917	2.458	0.04534	0.202:0.2284:0.4524:0.1172	rs2302970;rs2302970	761	Q96NW4	ANR27_HUMAN	R	761	ENSP00000304292:P761R	ENSP00000304292:P761R	P	-	2	0	ANKRD27	37790472	0.929000	0.31497	0.233000	0.24025	0.396000	0.30629	0.470000	0.22084	0.350000	0.24002	0.655000	0.94253	CCC	G|0.651;C|0.349	0.349	strong		0.692	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		C	33098632	G	C	33098632	3	2	3	1	0	0	0	0	1	0	0	0	655	1232	43	4	898	4	ANKRD27	19	33098632	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	14769392	33098632	26030351	379	818										
GRAMD1A	57655	hgsc.bcm.edu	37	chr19	35510102	35510102	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctccctcctctagacgtgacGctgagcccctggagtgggga	13	14	1	3	rs2290646	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:35510102G>C	ENST00000317991.5	+	12	1413	c.1221G>C	c.(1219-1221)acG>acC	p.T407T	GRAMD1A_ENST00000411896.2_Silent_p.T400T|GRAMD1A_ENST00000504615.2_Silent_p.T173T|GRAMD1A_ENST00000599564.1_Silent_p.T494T|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	407						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TAGACGTGACGCTGAGCCCCT	0.657													C|||	1867	0.372804	0.5484	0.3862	5008	,	,		14555	0.2212		0.3777	False		,,,				2504	0.2771				p.T407T		Atlas-SNP	.											.	GRAMD1A	39	.	0			c.G1221C						PASS	.	C	,	2206,2094		585,1036,529	50	59	56		1200,1221	2.4	1	19	dbSNP_100	56	3158,5364		585,1988,1688	no	coding-synonymous,coding-synonymous	GRAMD1A	NM_001136199.1,NM_020895.3	,	1170,3024,2217	CC,CG,GG		37.057,48.6977,41.8343	,	400/714,407/725	35510102	5364,7458	2150	4261	6411	SO:0001819	synonymous_variant	57655	exon12			CGTGACGCTGAGC	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1221G>C	19.37:g.35510102G>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_020895	A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	CCDS42546.1																																																																																			G|0.623;C|0.377	0.377	strong		0.657	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		C	35510102	G	C	35510102	2	2	3	1	0	0	0	0	0	0	0	1	6747	1074	38	4		4	GRAMD1A	19	35510102	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2411470	35510102	23618881	380	819										
ZNF585A	199704	hgsc.bcm.edu	37	chr19	37642917	37642917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	acatagggtttctctcctgtGtgaactggctgatgcaccag	11	10	1	2	rs77675231	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:37642917G>A	ENST00000356958.4	-	5	2142	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Silent_p.H573H|ZNF585A_ENST00000392157.2_Silent_p.H573H|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCTCCTGTGTGAACTGGCT	0.493													G|||	2519	0.502995	0.8086	0.5778	5008	,	,		19421	0.1944		0.497	False		,,,				2504	0.3609				p.H573H		Atlas-SNP	.											.	ZNF585A	117	.	0			c.C1719T						PASS	.						38	37	37					19																	37642917		2203	4300	6503	SO:0001819	synonymous_variant	199704	exon6			TCCTGTGTGAACT	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1884C>T	19.37:g.37642917G>A		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	234	15	0.0641026	NM_199126	Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37																																																																																				G|0.497;A|0.503	0.503	strong		0.493	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		A	37642917	G	A	37642917	2	1	3	1	0	0	0	0	0	0	0	1	18014	1368	48	2		2	ZNF585A	19	37642917	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2132815	37642917	21486066	381	820										
ZNF573	126231	hgsc.bcm.edu	37	chr19	38229824	38229824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cttacattcatagggtttcaTaccagtatgaattttctgat	6	7	3	2	rs3095726	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:38229824T>C	ENST00000590414.2	-	4	1588	c.1567A>G	c.(1567-1569)Atg>Gtg	p.M523V	ZNF573_ENST00000536220.1_Missense_Mutation_p.M435V|ZNF573_ENST00000357309.3_Missense_Mutation_p.M435V|ZNF573_ENST00000339503.4_Missense_Mutation_p.M465V|ZNF573_ENST00000392138.1_Missense_Mutation_p.M436V			Q86YE8	ZN573_HUMAN	zinc finger protein 573	523				M -> V (in Ref. 3; AAH15418/AAH42170/ AAH51263/AAH64962). {ECO:0000305}.	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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAGGGTTTCATACCAGTATGA	0.328													c|||	3635	0.725839	0.9917	0.7579	5008	,	,		19641	0.3472		0.833	False		,,,				2504	0.6237				p.M523V		Atlas-SNP	.											ZNF573,colon,carcinoma,0,1	ZNF573	63	1	0			c.A1567G						PASS	.	T	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	4251,155		2052,147,4	54	56	55		1303,1567,1561,1303,1393	-0.2	0.6	19	dbSNP_103	55	7021,1579		2864,1293,143	no	missense,missense,missense,missense,missense	ZNF573	NM_001172689.1,NM_001172690.1,NM_001172691.1,NM_001172692.1,NM_152360.3	21,21,21,21,21	4916,1440,147	CC,CT,TT		18.3605,3.5179,13.3323	benign,benign,benign,benign,benign	435/578,523/666,521/664,435/578,465/608	38229824	11272,1734	2203	4300	6503	SO:0001583	missense	126231	exon5			GTTTCATACCAGT	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1567A>G	19.37:g.38229824T>C	ENSP00000465020:p.Met523Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	62	4	0.0645161	NM_001172690	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	1606	0.7353479853479854	485	0.9857723577235772	284	0.7845303867403315	201	0.3513986013986014	636	0.8390501319261213	-	7.201	0.593398	0.13875	0.964821	0.816395	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	2.25	-0.193	0.13244	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00525	-1.395	0.58432	P	2.9999999999752447E-6	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	0.21484	-1.0244	8	0.66056	D	0.02	.	5.6351	0.17532	0.0:0.6715:0.1995:0.129	rs3095726;rs17845462;rs17855938;rs17857264;rs17858340;rs52789917;rs3095726	436;465;503;435	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	V	436;435;435;465;435	ENSP00000375983:M436V;ENSP00000440464:M435V;ENSP00000349861:M435V;ENSP00000340171:M465V	ENSP00000340171:M465V	M	-	1	0	ZNF573	42921664	0.001000	0.12720	0.602000	0.28890	0.755000	0.42902	1.410000	0.34691	-0.269000	0.09298	-0.221000	0.12465	ATG	T|0.180;C|0.820	0.820	strong		0.328	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		C	38229824	T	C	38229824	3	2	3	1	0	0	0	0	1	0	0	0	18002	1406	49	2	434	2	ZNF573	19	38229824	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	586907	38229824	20899159	382	821										
RYR1	6261	hgsc.bcm.edu	37	chr19	38994910	38994910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagtactactgcctacccacGggctgggccaacttcggggt	12	13	0	0	rs2229144	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:38994910G>A	ENST00000359596.3	+	50	7977	c.7977G>A	c.(7975-7977)acG>acA	p.T2659T	RYR1_ENST00000360985.3_Silent_p.T2659T|RYR1_ENST00000355481.4_Silent_p.T2659T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2659	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T2659T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCTACCCACGGGCTGGGCCA	0.587													A|||	2065	0.41234	0.5182	0.3689	5008	,	,		17530	0.3532		0.2982	False		,,,				2504	0.4785				p.T2659T		Atlas-SNP	.											RYR1,NS,carcinoma,0,1	RYR1	708	1	1	Substitution - coding silent(1)	stomach(1)	c.G7977A						scavenged	.	A	,	2016,2390	613.2+/-392.1	457,1102,644	75	63	67		7977,7977	-7.9	0.3	19	dbSNP_98	67	2140,6460	715.0+/-406.0	286,1568,2446	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	743,2670,3090	AA,AG,GG		24.8837,45.7558,31.9545	,	2659/5039,2659/5034	38994910	4156,8850	2203	4300	6503	SO:0001819	synonymous_variant	6261	exon50			ACCCACGGGCTGG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7977G>A	19.37:g.38994910G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	86	2	0.0232558	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			G|0.657;A|0.343	0.343	strong		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38994910	G	A	38994910	2	1	3	1	0	0	0	0	0	0	0	1	13768	1103	39	1		1	RYR1	19	38994910	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	765086	38994910	20134073	383	822										
RYR1	6261	hgsc.bcm.edu	37	chr19	38995438	38995438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgccttgtctgtgcgccatTgccggggctctgccccccga	12	16	2	0	rs2960340	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:38995438T>C	ENST00000359596.3	+	51	8118	c.8118T>C	c.(8116-8118)atT>atC	p.I2706I	RYR1_ENST00000360985.3_Silent_p.I2706I|RYR1_ENST00000355481.4_Silent_p.I2706I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2706	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.I2706I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTGCGCCATTGCCGGGGCTC	0.572													C|||	2079	0.415136	0.5182	0.3689	5008	,	,		16810	0.3532		0.2992	False		,,,				2504	0.4918				p.I2706I		Atlas-SNP	.											RYR1,NS,carcinoma,0,1	RYR1	708	1	1	Substitution - coding silent(1)	stomach(1)	c.T8118C						scavenged	.	C	,	2016,2390	612.3+/-391.9	458,1100,645	59	56	57		8118,8118	0.2	1	19	dbSNP_101	57	2143,6457	713.9+/-406.0	289,1565,2446	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	747,2665,3091	CC,CT,TT		24.9186,45.7558,31.9775	,	2706/5039,2706/5034	38995438	4159,8847	2203	4300	6503	SO:0001819	synonymous_variant	6261	exon51			CGCCATTGCCGGG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8118T>C	19.37:g.38995438T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	71	4	0.056338	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			T|0.657;C|0.343	0.343	strong		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	38995438	T	C	38995438	2	2	3	1	0	0	0	0	0	0	0	1	13768	1800	63	2		2	RYR1	19	38995438	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	528	38995438	20133545	384	823										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40408532	40408532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggatacagtcctcgctccccGgcgggcaaggggtgggcggc	18	13	0	0	rs36106401	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:40408532G>A	ENST00000221347.6	-	8	4314	c.4307C>T	c.(4306-4308)cCg>cTg	p.P1436L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1436	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.		P -> L (in dbSNP:rs36106401).			extracellular vesicular exosome (GO:0070062)		p.P1436L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCGCTCCCCGGCGGGCAAGG	0.642													G|||	562	0.11222	0.0363	0.2003	5008	,	,		17719	0.0387		0.1839	False		,,,				2504	0.1544				p.P1436L		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	stomach(1)	c.C4307T						scavenged	.	G	LEU/PRO	356,4050	181.9+/-209.8	15,326,1862	53	57	55		4307	4.8	0	19	dbSNP_126	55	1750,6850	318.2+/-313.6	182,1386,2732	no	missense	FCGBP	NM_003890.2	98	197,1712,4594	AA,AG,GG		20.3488,8.0799,16.1925	probably-damaging	1436/5406	40408532	2106,10900	2203	4300	6503	SO:0001583	missense	8857	exon8			CTCCCCGGCGGGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4307C>T	19.37:g.40408532G>A	ENSP00000221347:p.Pro1436Leu	Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	225	8	0.0355556	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	237	0.10851648351648352	21	0.042682926829268296	50	0.13812154696132597	19	0.033216783216783216	147	0.19393139841688653	G	13.46	2.242442	0.39598	0.080799	0.203488	ENSG00000090920	ENST00000221347	T	0.19532	2.14	4.8	4.8	0.61643	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.00012	0.0000	L	0.39566	1.225	0.80722	P	0.0	P	0.37864	0.61	B	0.24701	0.055	T	0.30707	-0.9969	8	0.12103	T	0.63	.	11.0692	0.47993	0.0916:0.0:0.9084:0.0	rs36106401	1436	Q9Y6R7	FCGBP_HUMAN	L	1436	ENSP00000221347:P1436L	ENSP00000221347:P1436L	P	-	2	0	FCGBP	45100372	.	.	0.046000	0.18839	0.004000	0.04260	.	.	2.240000	0.73641	0.644000	0.83932	CCG	G|0.853;A|0.147	0.147	strong		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40408532	G	A	40408532	3	1	3	1	0	0	0	0	1	0	0	0	5778	1116	39	1	12026	1	FCGBP	19	40408532	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1413094	40408532	18720451	385	824										
B3GNT8	593	hgsc.bcm.edu	37	chr19	41932420	41932420	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggcagccccccgtttcagtGctgtccccactgggcaggga	13	15	1	0			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:41932420G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_Intron|B3GNT8_ENST00000321702.2_Silent_p.S88S|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCGTTTCAGTGCTGTCCCCAC	0.682																																					p.S88S		Atlas-SNP	.											.	B3GNT8	20	.	0			c.C264T						PASS	.						11	11	11					19																	41932420		2181	4275	6456	SO:0001628	intergenic_variant	374907	exon3			TTCAGTGCTGTCC	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932420G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	52	13	0.25	NM_198540	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																			.	.	none		0.682	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		A	41932420	G	A	41932420	1	1	3	0	1	0	0	0	0	0	0	0	1263	1310	46	2		2	B3GNT8	19	41932420	IGR	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1523888	41932420	17196563	386	825										
CEACAM6	4680	hgsc.bcm.edu	37	chr19	42260569	42260569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ctcactattgaatccacgccGttcaatgtcgcagaggggaa	10	11	2	2	rs1805223	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:42260569G>A	ENST00000199764.6	+	2	344	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	42	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P42P(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AATCCACGCCGTTCAATGTCG	0.527													g|||	1280	0.255591	0.1399	0.2911	5008	,	,		18831	0.2738		0.2873	False		,,,				2504	0.3354				p.P42P		Atlas-SNP	.											CEACAM6,NS,carcinoma,0,1	CEACAM6	52	1	1	Substitution - coding silent(1)	stomach(1)	c.G126A						scavenged	.	G		745,3661	305.5+/-289.0	63,619,1521	170	156	161		126	-5.1	0	19	dbSNP_92	161	2502,6098	410.2+/-350.1	384,1734,2182	no	coding-synonymous	CEACAM6	NM_002483.4		447,2353,3703	AA,AG,GG		29.093,16.9088,24.9654		42/345	42260569	3247,9759	2203	4300	6503	SO:0001819	synonymous_variant	4680	exon2			CACGCCGTTCAAT	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.126G>A	19.37:g.42260569G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	146	4	0.0273973	NM_002483	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																			.	.	weak		0.527	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			A	42260569	G	A	42260569	2	1	3	1	0	0	0	0	0	0	0	1	3196	1132	40	1		1	CEACAM6	19	42260569	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	328149	42260569	16868414	387	826										
CD79A	973	hgsc.bcm.edu	37	chr19	42384803	42384803	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgaagatgaaaacctttatGaagtgagtgaagggtgggga	15	2	0	6			TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:42384803G>T	ENST00000221972.3	+	4	750	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	CD79A_ENST00000444740.2_Nonsense_Mutation_p.E151*|ARHGEF1_ENST00000347545.4_5'Flank|ARHGEF1_ENST00000599846.1_5'Flank|ARHGEF1_ENST00000354532.3_5'Flank	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	189	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.			E -> G (in Ref. 10; BAD97091). {ECO:0000305}.	B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						AAACCTTTATGAAGTGAGTGA	0.597			"O, S"		DLBCL																																p.E189X		Atlas-SNP	.		Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	.	CD79A	25	.	0			c.G565T						PASS	.						17	17	17					19																	42384803		2059	4062	6121	SO:0001587	stop_gained	973	exon4			CTTTATGAAGTGA	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.565G>T	19.37:g.42384803G>T	ENSP00000221972:p.Glu189*	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	51	20	0.392157	NM_001783	A0N775|Q53FB8	Nonsense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752565	0.49362	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	.	.	.	3.89	3.89	0.44902	.	0.222714	0.28125	N	0.016501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.5868	12.151	0.54050	0.0:0.0:1.0:0.0	.	.	.	.	X	189;151	.	ENSP00000221972:E189X	E	+	1	0	CD79A	47076643	1.000000	0.71417	0.983000	0.44433	0.048000	0.14542	4.749000	0.62155	2.135000	0.66039	0.449000	0.29647	GAA	.	.	none		0.597	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			T	42384803	G	T	42384803	4	4	3	1	0	0	0	0	0	1	0	0	3036	1291	45	4	579	4	CD79A	19	42384803	Nonsense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	124234	42384803	16744180	388	827										
PSG3	5671	hgsc.bcm.edu	37	chr19	43234049	43234049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaatgaggatcctgttttcaAtgggtcgctttaccctggga	12	8	1	1	rs28698193	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:43234049A>T	ENST00000327495.5	-	4	1053	c.869T>A	c.(868-870)aTt>aAt	p.I290N	PSG3_ENST00000595140.1_Missense_Mutation_p.I290N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	290	Ig-like C2-type 2.		I -> N (in dbSNP:rs28698193).		defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTGTTTTCAATGGGTCGCTT	0.488													.|||	690	0.13778	0.3116	0.1225	5008	,	,		21813	0.0248		0.0706	False		,,,				2504	0.0992				p.I290N		Atlas-SNP	.											.	PSG3	82	.	0			c.T869A						PASS	.	T	ASN/ILE	845,2175		128,589,793	84	85	85		869	-2.2	0	19	dbSNP_125	85	372,5032		10,352,2340	no	missense	PSG3	NM_021016.3	149	138,941,3133	TT,TA,AA		6.8838,27.9801,14.4468	possibly-damaging	290/429	43234049	1217,7207	1510	2702	4212	SO:0001583	missense	5671	exon4			TTTTCAATGGGTC		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.869T>A	19.37:g.43234049A>T	ENSP00000332215:p.Ile290Asn	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	53	5	0.0943396	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	273	0.125	154	0.3130081300813008	52	0.143646408839779	8	0.013986013986013986	59	0.07783641160949868	t	0.001	-3.244528	0.00022	0.279801	0.068838	ENSG00000221826	ENST00000327495	T	0.09255	3.0	1.1	-2.21	0.06973	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00077	-2.24	0.80722	P	0.0	B;B	0.14012	0.009;0.001	B;B	0.17979	0.02;0.004	T	0.31752	-0.9932	8	0.12103	T	0.63	.	0.3073	0.00282	0.2656:0.215:0.3044:0.2151	rs28698193;rs60112374	268;290	Q08266;Q16557	.;PSG3_HUMAN	N	290	ENSP00000332215:I290N	ENSP00000332215:I290N	I	-	2	0	PSG3	47925889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.576000	0.00112	-4.294000	0.00058	-4.092000	0.00011	ATT	A|0.879;T|0.121	0.121	strong		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43234049	A	T	43234049	3	4	3	1	0	0	0	0	1	0	0	0	12656	101	4	5	429	5	PSG3	19	43234049	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	849246	43234049	15894934	389	828										
ZNF45	7596	hgsc.bcm.edu	37	chr19	44417575	44417575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgtgaatcctctgatgaaggAaagtccttgtcaccctcatc	8	11	3	3	rs417699	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:44417575A>G	ENST00000269973.5	-	10	3103	c.2013T>C	c.(2011-2013)ttT>ttC	p.F671F	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.F671F	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	671					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTGATGAAGGAAAGTCCTTGT	0.398													A|||	2712	0.541534	0.388	0.6585	5008	,	,		21581	0.8046		0.5149	False		,,,				2504	0.4223				p.F671F		Atlas-SNP	.											ZNF45,NS,carcinoma,-2,2	ZNF45	51	2	0			c.T2013C						PASS	.	A		1758,2648		357,1044,802	75	69	71		2013	-3.6	0	19	dbSNP_80	71	4342,4258		1118,2106,1076	no	coding-synonymous	ZNF45	NM_003425.3		1475,3150,1878	GG,GA,AA		49.5116,39.9001,46.9014		671/683	44417575	6100,6906	2203	4300	6503	SO:0001819	synonymous_variant	7596	exon10			TGAAGGAAAGTCC	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.2013T>C	19.37:g.44417575A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	63	6	0.0952381	NM_003425	P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	CCDS12632.1																																																																																			A|0.474;G|0.526	0.526	strong		0.398	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		G	44417575	A	G	44417575	2	3	3	1	0	0	0	0	0	0	0	1	17918	243	9	2		2	ZNF45	19	44417575	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1183526	44417575	14711408	390	829										
ZNF227	7770	hgsc.bcm.edu	37	chr19	44739399	44739399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ccccttcatccgaatgttcaTacaggagaaaaatgcttcag	7	11	3	1	rs2279072	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:44739399T>C	ENST00000313040.7	+	6	1021	c.816T>C	c.(814-816)caT>caC	p.H272H	ZNF227_ENST00000589005.1_Silent_p.H221H|ZNF227_ENST00000391961.2_Silent_p.H221H	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CGAATGTTCATACAGGAGAAA	0.453													C|||	3183	0.635583	0.705	0.7104	5008	,	,		17959	0.5327		0.5706	False		,,,				2504	0.6616				p.H272H		Atlas-SNP	.											.	ZNF227	62	.	0			c.T816C						PASS	.	C		3121,1285	433.1+/-343.5	1116,889,198	47	47	47		816	1.7	0	19	dbSNP_100	47	4846,3754	528.6+/-381.4	1383,2080,837	no	coding-synonymous	ZNF227	NM_182490.1		2499,2969,1035	CC,CT,TT		43.6512,29.1648,38.7437		272/800	44739399	7967,5039	2203	4300	6503	SO:0001819	synonymous_variant	7770	exon6			TGTTCATACAGGA	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.816T>C	19.37:g.44739399T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	99	7	0.0707071	NM_182490	B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																			T|0.393;C|0.607	0.607	strong		0.453	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		C	44739399	T	C	44739399	2	2	3	1	0	0	0	0	0	0	0	1	17778	1403	49	2		2	ZNF227	19	44739399	Silent	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	321824	44739399	14389584	391	830										
SIGLEC11	114132	hgsc.bcm.edu	37	chr19	50463670	50463670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gatgtagacatcaggcttctTagtcagggctgggacagaga	14	7	3	2	rs77553517	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:50463670T>G	ENST00000447370.2	-	3	559	c.469A>C	c.(469-471)Aag>Cag	p.K157Q	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.K157Q	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	157					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCAGGCTTCTTAGTCAGGGCT	0.607																																					p.K157Q		Atlas-SNP	.											.	SIGLEC11	70	.	0			c.A469C						PASS	.	G	GLN/LYS,GLN/LYS	840,2990		167,506,1242	35	54	48		469,469	-0.6	0	19	dbSNP_131	48	1503,7087		54,1395,2846	yes	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	53,53	221,1901,4088	GG,GT,TT		17.4971,21.9321,18.8647	benign,benign	157/603,157/699	50463670	2343,10077	1915	4295	6210	SO:0001583	missense	114132	exon3			GCTTCTTAGTCAG	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.469A>C	19.37:g.50463670T>G	ENSP00000412361:p.Lys157Gln	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	140	11	0.0785714	NM_052884		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	363	0.1662087912087912	102	0.2073170731707317	48	0.13259668508287292	112	0.1958041958041958	101	0.13324538258575197	G	0.021	-1.424972	0.01126	0.219321	0.174971	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.03124	4.04	3.28	-0.577	0.11727	Immunoglobulin-like fold (1);	0.404011	0.21813	N	0.068733	T	0.00012	0.0000	N	0.00036	-2.54	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38950	-0.9637	9	0.16420	T	0.52	.	1.9279	0.03321	0.1102:0.1707:0.3701:0.349	.	157;157	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	Q	157	ENSP00000412361:K157Q	ENSP00000412361:K157Q	K	-	1	0	SIGLEC11	55155482	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.174000	0.09839	-0.459000	0.07013	-0.217000	0.12591	AAG	T|0.840;G|0.160	0.160	strong		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		G	50463670	T	G	50463670	3	3	3	1	0	0	0	0	1	0	0	0	14307	1763	61	5	1663	5	SIGLEC11	19	50463670	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	5724271	50463670	8665313	392	831										
SIGLEC12	89858	hgsc.bcm.edu	37	chr19	52000624	52000624	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caacgaagatgatgcagaagTacaggaagaccagggctgtg	14	7	0	4	rs3752135	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:52000624T>G	ENST00000291707.3	-	6	1536	c.1481A>C	c.(1480-1482)tAc>tCc	p.Y494S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Y376S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	494			Y -> S (in dbSNP:rs3752135).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCAGAAGTACAGGAAGAC	0.557													N|||	4165	0.831669	0.9735	0.9063	5008	,	,		17451	0.5367		0.8588	False		,,,				2504	0.863				p.Y494S		Atlas-SNP	.											SIGLEC12,rectum,carcinoma,-1,1	SIGLEC12	243	1	0			c.A1481C						scavenged	.	G	SER/TYR,SER/TYR	4175,231		1980,215,8	164	143	150		1127,1481	-1.1	0	19	dbSNP_107	150	7376,1224		3164,1048,88	yes	missense,missense	SIGLEC12	NM_033329.1,NM_053003.2	144,144	5144,1263,96	GG,GT,TT		14.2326,5.2429,11.1871	benign,benign	376/478,494/596	52000624	11551,1455	2203	4300	6503	SO:0001583	missense	89858	exon6			CAGAAGTACAGGA	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1481A>C	19.37:g.52000624T>G	ENSP00000291707:p.Tyr494Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	109	4	0.0366972	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	1773	0.8118131868131868	478	0.9715447154471545	329	0.9088397790055248	318	0.5559440559440559	648	0.8548812664907651	.	1.409	-0.576156	0.03882	0.947571	0.857674	ENSG00000254521	ENST00000291707	T	0.35789	1.29	1.5	-1.13	0.09775	.	1.213390	0.06410	N	0.720387	T	0.00012	0.0000	N	0.00082	-2.215	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41106	-0.9527	9	0.06494	T	0.89	.	0.6347	0.00800	0.1757:0.2385:0.3442:0.2417	rs3752135;rs3752135	494;376	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	S	494	ENSP00000291707:Y494S	ENSP00000291707:Y494S	Y	-	2	0	SIGLEC12	56692436	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.244000	0.02902	-0.635000	0.05531	-0.527000	0.04329	TAC	T|0.148;G|0.852	0.852	strong		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		G	52000624	T	G	52000624	3	3	3	1	0	0	0	0	1	0	0	0	14308	1638	57	5	318	5	SIGLEC12	19	52000624	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1536954	52000624	7128359	393	832										
ZNF584	201514	hgsc.bcm.edu	37	chr19	58928299	58928299	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggcacactgagcatggggcAgctttcccacctggttccag	12	13	0	1	rs11668757	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr19:58928299A>T	ENST00000306910.4	+	4	937	c.414A>T	c.(412-414)gcA>gcT	p.A138A	ZNF584_ENST00000322834.7_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Silent_p.A93A|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		AGCATGGGGCAGCTTTCCCAC	0.517													A|||	647	0.129193	0.0401	0.1729	5008	,	,		18513	0.0546		0.2495	False		,,,				2504	0.1718				p.A138A		Atlas-SNP	.											.	ZNF584	31	.	0			c.A414T						PASS	.	A		268,4138	151.0+/-185.0	8,252,1943	148	112	124		414	0.7	0	19	dbSNP_120	124	1790,6810	322.9+/-315.8	186,1418,2696	no	coding-synonymous	ZNF584	NM_173548.1		194,1670,4639	TT,TA,AA		20.814,6.0826,15.8235		138/422	58928299	2058,10948	2203	4300	6503	SO:0001819	synonymous_variant	201514	exon4			TGGGGCAGCTTTC	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.414A>T	19.37:g.58928299A>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	97	5	0.0515464	NM_173548	A8K203	Silent	SNP	ENST00000306910.4	37	CCDS12979.1																																																																																			A|0.846;T|0.154	0.154	strong		0.517	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		T	58928299	A	T	58928299	2	4	3	1	0	0	0	0	0	0	0	1	18013	175	7	5		5	ZNF584	19	58928299	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	6927675	58928299	200684	394	833										
C20orf26	26074	hgsc.bcm.edu	37	chr20	20257958	20257958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aacaactactcggtggagagCgccgtggcggacgcgctagg	16	11	0	1	rs2424317	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:20257958C>T	ENST00000245957.5	+	22	2728	c.2652C>T	c.(2650-2652)agC>agT	p.S884S	C20orf26_ENST00000377309.2_Silent_p.S240S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		884										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGTGGAGAGCGCCGTGGCGG	0.652													C|||	671	0.133986	0.0976	0.2089	5008	,	,		15156	0.004		0.2296	False		,,,				2504	0.1656				p.S884S		Atlas-SNP	.											.	C20orf26	188	.	0			c.C2652T						PASS	.	C		562,3844	251.2+/-258.0	39,484,1680	57	57	57		2652	-8.6	0	20	dbSNP_100	57	2112,6488	363.5+/-333.2	258,1596,2446	no	coding-synonymous	C20orf26	NM_015585.3		297,2080,4126	TT,TC,CC		24.5581,12.7553,20.5597		884/1238	20257958	2674,10332	2203	4300	6503	SO:0001819	synonymous_variant	26074	exon22			GGAGAGCGCCGTG																												ENST00000245957.5:c.2652C>T	20.37:g.20257958C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	61	4	0.0655738	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1																																																																																			C|0.824;T|0.176	0.176	strong		0.652	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20257958	C	T	20257958	2	4	3	1	0	0	0	0	0	0	0	1	2106	767	27	1		1	C20orf26	20	20257958	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10		20257958	42767562	395	834										
ABHD12	26090	hgsc.bcm.edu	37	chr20	25288632	25288632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggatggctcttagcttcttcGcggatattagtgaatggaga	13	6	2	2	rs6107027	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:25288632G>A	ENST00000339157.5	-	9	1109	c.837C>T	c.(835-837)cgC>cgT	p.R279R	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Silent_p.R279R	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	279					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TAGCTTCTTCGCGGATATTAG	0.368													g|||	1683	0.336062	0.211	0.5836	5008	,	,		13675	0.0228		0.5089	False		,,,				2504	0.4744				p.R279R		Atlas-SNP	.											.	ABHD12	46	.	0			c.C837T						PASS	.	A	,	1183,3223	415.2+/-337.1	157,869,1177	73	72	72		837,837	-11.1	0	20	dbSNP_114	72	4470,4130	589.2+/-392.5	1153,2164,983	no	coding-synonymous,coding-synonymous	ABHD12	NM_001042472.2,NM_015600.4	,	1310,3033,2160	AA,AG,GG		48.0233,26.8498,43.4646	,	279/399,279/405	25288632	5653,7353	2203	4300	6503	SO:0001819	synonymous_variant	26090	exon9			TTCTTCGCGGATA	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.837C>T	20.37:g.25288632G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	77	5	0.0649351	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	CCDS42857.1																																																																																			G|0.608;A|0.392	0.392	strong		0.368	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		A	25288632	G	A	25288632	2	1	3	1	0	0	0	0	0	0	0	1	76	1074	38	1		1	ABHD12	20	25288632	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	5030674	25288632	37736888	396	835										
SLC13A3	64849	hgsc.bcm.edu	37	chr20	45204266	45204266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aggagaaggatgatgttccaGggcactgtctcctgggcctt	14	9	1	2	rs1880898	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:45204266G>A	ENST00000279027.4	-	10	1296	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC13A3_ENST00000290317.5_Silent_p.P379P|SLC13A3_ENST00000396360.1_Silent_p.P344P|SLC13A3_ENST00000413164.2_Silent_p.P376P|SLC13A3_ENST00000472148.1_Silent_p.P344P|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000495082.1_Silent_p.P379P	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	426					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGATGTTCCAGGGCACTGTCT	0.617													G|||	2774	0.553914	0.4796	0.5692	5008	,	,		19600	0.5625		0.6093	False		,,,				2504	0.5777				p.P426P		Atlas-SNP	.											.	SLC13A3	88	.	0			c.C1278T						PASS	.	G	,,,,	2183,2223	576.3+/-384.2	531,1121,551	90	71	77		1137,1128,1032,984,1278	0.4	1	20	dbSNP_92	77	5474,3126	645.5+/-400.2	1732,2010,558	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC13A3	NM_001011554.2,NM_001193339.1,NM_001193340.1,NM_001193342.1,NM_022829.5	,,,,	2263,3131,1109	AA,AG,GG		36.3488,49.5461,41.1272	,,,,	379/556,376/553,344/521,328/505,426/603	45204266	7657,5349	2203	4300	6503	SO:0001819	synonymous_variant	64849	exon10			GTTCCAGGGCACT	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1278C>T	20.37:g.45204266G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	106	5	0.0471698	NM_022829	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	CCDS13400.1																																																																																			G|0.419;T|0.006	.	strong		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			A	45204266	G	A	45204266	2	1	3	1	0	0	0	0	0	0	0	1	14393	987	35	2		2	SLC13A3	20	45204266	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	19915634	45204266	17821254	397	836										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46279884	46279884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	caacagcaacagcaacagcaAcagcagcaacagcagcaaac	7	14	0	0	rs112355546		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:46279884A>G	ENST00000371998.3	+	20	4001	c.3810A>G	c.(3808-3810)caA>caG	p.Q1270Q	NCOA3_ENST00000372004.3_Silent_p.Q1266Q|NCOA3_ENST00000371997.3_Silent_p.Q1261Q|NCOA3_ENST00000341724.6_Silent_p.Q1196Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1270	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcaacagcaacagcagcaac	0.572																																					p.Q1270Q		Atlas-SNP	.											.	NCOA3	156	.	0			c.A3810G						PASS	.						92	92	92					20																	46279884		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon20			ACAGCAACAGCAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3810A>G	20.37:g.46279884A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	4	0.0655738	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			A|0.500;G|0.500	0.500	weak		0.572	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46279884	A	G	46279884	2	3	3	1	0	0	0	0	0	0	0	1	10230	40	2	2		2	NCOA3	20	46279884	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	1075618	46279884	16745636	398	837										
MOCS3	8813	hgsc.bcm.edu	37	chr20	49575719	49575719	+	5'Flank	SNP	T	T	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccgccttggccttgtggacTatgacgtggtagagatgagc							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:49575719T>A	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.Y114N|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CCTTGTGGACTATGACGTGGT	0.692																																					p.Y114N		Atlas-SNP	.											.	MOCS3	44	.	0			c.T340A						PASS	.						46	56	53					20																	49575719		2192	4285	6477	SO:0001631	upstream_gene_variant	27304	exon1			GTGGACTATGACG	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575719T>A	Exception_encountered	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	51	17	0.333333	NM_014484	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975590	0.74360	.	.	ENSG00000124217	ENST00000244051	T	0.28069	1.63	6.08	2.51	0.30379	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.272984	0.37955	N	0.001868	T	0.27731	0.0682	L	0.37561	1.115	0.50039	D	0.99984	P	0.42409	0.779	P	0.49683	0.619	T	0.04360	-1.0957	9	.	.	.	-10.1451	4.0058	0.09600	0.0:0.4057:0.2107:0.3836	.	114	O95396	MOCS3_HUMAN	N	114	ENSP00000244051:Y114N	.	Y	+	1	0	MOCS3	49009126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.110000	0.41873	0.550000	0.28991	0.533000	0.62120	TAT	.	.	none		0.692	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		A	49575719	T	A	49575719	1	1	3	0	1	0	0	0	0	0	0	0	9692	1522	53	5		5	MOCS3	20	49575719	5'Flank	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	3295835	49575719	13449801	399	838	17	2								
MOCS3	8813	hgsc.bcm.edu	37	chr20	49575721	49575721	+	5'Flank	SNP	T	T	C													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cgccttggccttgtggactaTgacgtggtagagatgagcaa							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:49575721T>C	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Silent_p.Y114Y|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TTGTGGACTATGACGTGGTAG	0.692																																					p.Y114Y		Atlas-SNP	.											.	MOCS3	44	.	0			c.T342C						PASS	.						46	57	53					20																	49575721		2192	4282	6474	SO:0001631	upstream_gene_variant	27304	exon1			GGACTATGACGTG	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575721T>C	Exception_encountered	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	17	0.326923	NM_014484	O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	CCDS13434.1																																																																																			.	.	none		0.692	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		C	49575721	T	C	49575721	1	2	3	0	1	0	0	0	0	0	0	0	9692	1471	51	2		2	MOCS3	20	49575721	5'Flank	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	2	49575721	13449799	400	839	17	2								
MYT1	4661	hgsc.bcm.edu	37	chr20	62839368	62839368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaggaagaggaggaggaggaGgatgaagaagaggaagagga	22	0	0	5	rs369047925		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr20:62839368G>T	ENST00000328439.1	+	7	1183	c.819G>T	c.(817-819)gaG>gaT	p.E273D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E273D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E273D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggatgaagaag	0.572																																					p.E273D	GBM(59;481 1041 20555 21139 33705)	Atlas-SNP	.											MYT1,NS,carcinoma,0,1	MYT1	152	1	1	Substitution - Missense(1)	endometrium(1)	c.G819T						scavenged	.						21	21	21					20																	62839368		2203	4299	6502	SO:0001583	missense	4661	exon7			GGAGGAGGATGAA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.819G>T	20.37:g.62839368G>T	ENSP00000327465:p.Glu273Asp	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	22	4	0.181818	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	6.948	0.544734	0.13312	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.74526	-0.85;-0.85	4.12	-4.11	0.03928	.	0.319667	0.24102	N	0.041536	T	0.40272	0.1110	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.03761	-1.1006	10	0.17832	T	0.49	.	1.4958	0.02466	0.2938:0.235:0.3514:0.1198	.	273	Q01538	MYT1_HUMAN	D	273	ENSP00000327465:E273D;ENSP00000442412:E273D	ENSP00000327465:E273D	E	+	3	2	MYT1	62309812	0.048000	0.20356	0.073000	0.20177	0.034000	0.12701	-1.232000	0.02936	-0.392000	0.07751	-0.260000	0.10688	GAG	.	.	alt		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62839368	G	T	62839368	3	4	3	1	0	0	0	0	1	0	0	0	10106	991	35	4	837	4	MYT1	20	62839368	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	13263647	62839368	186152	401	840										
KRTAP27-1	643812	hgsc.bcm.edu	37	chr21	31709691	31709691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagaactttctgattggcacGctgtcctttcgcagggcctg	11	11	1	2	rs2244485	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr21:31709691G>A	ENST00000382835.2	-	1	321	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	99			A -> V (in dbSNP:rs2244485).			intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGATTGGCACGCTGTCCTTTC	0.502													G|||	1609	0.321286	0.1793	0.3473	5008	,	,		20460	0.2639		0.4503	False		,,,				2504	0.4213				p.A99V		Atlas-SNP	.											KRTAP27-1,NS,carcinoma,-1,1	KRTAP27-1	53	1	0			c.C296T						scavenged	.	G	VAL/ALA	979,3427	367.8+/-318.4	108,763,1332	133	133	133		296	0.3	0	21	dbSNP_100	133	4174,4426	568.2+/-389.0	1012,2150,1138	yes	missense	KRTAP27-1	NM_001077711.1	64	1120,2913,2470	AA,AG,GG		48.5349,22.2197,39.6202	benign	99/208	31709691	5153,7853	2203	4300	6503	SO:0001583	missense	643812	exon1			TGGCACGCTGTCC	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.296C>T	21.37:g.31709691G>A	ENSP00000372286:p.Ala99Val	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	131	4	0.0305344	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	674	0.3086080586080586	81	0.16463414634146342	127	0.35082872928176795	126	0.2202797202797203	340	0.44854881266490765	G	5.791	0.330292	0.10956	0.222197	0.485349	ENSG00000206107	ENST00000382835	T	0.03301	3.98	4.44	0.262	0.15597	.	2.953730	0.01681	N	0.026127	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P	0.40032	0.699	B	0.32677	0.15	T	0.44019	-0.9355	9	0.34782	T	0.22	2.1633	4.478	0.11753	0.2144:0.3548:0.4308:0.0	rs2244485;rs17593215;rs56539537;rs2244485	99	Q3LI81	KR271_HUMAN	V	99	ENSP00000372286:A99V	ENSP00000372286:A99V	A	-	2	0	KRTAP27-1	30631562	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.536000	0.23129	0.039000	0.15632	0.591000	0.81541	GCG	G|0.654;A|0.346	0.346	strong		0.502	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709691	G	A	31709691	3	1	3	1	0	0	0	0	1	0	0	0	8544	1087	38	1	331	1	KRTAP27-1	21	31709691	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		31709691	16420204	402	841										
SIM2	6493	hgsc.bcm.edu	37	chr21	38117308	38117308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cacgctttttcctgagcacaCtgccagccagcggtgaatgc	10	14	0	2	rs2073601	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr21:38117308C>A	ENST00000290399.6	+	10	2060	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	SIM2_ENST00000430056.3_Missense_Mutation_p.L483M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	483	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.		L -> M (in dbSNP:rs2073601). {ECO:0000269|PubMed:9503011}.		cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCTGAGCACACTGCCAGCCAG	0.582													C|||	861	0.171925	0.0514	0.1729	5008	,	,		20231	0.0427		0.326	False		,,,				2504	0.3088				p.L483M		Atlas-SNP	.											.	SIM2	55	.	0			c.C1447A						PASS	.	C	MET/LEU,MET/LEU	419,3987	206.2+/-227.9	21,377,1805	80	69	73		1447,1447	3.5	1	21	dbSNP_96	73	3062,5538	471.1+/-368.0	540,1982,1778	yes	missense,missense	SIM2	NM_005069.3,NM_009586.2	15,15	561,2359,3583	AA,AC,CC		35.6047,9.5098,26.7646	possibly-damaging,possibly-damaging	483/668,483/571	38117308	3481,9525	2203	4300	6503	SO:0001583	missense	6493	exon10			AGCACACTGCCAG		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1447C>A	21.37:g.38117308C>A	ENSP00000290399:p.Leu483Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	81	7	0.0864198	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	378|378	0.17307692307692307|0.17307692307692307	33|33	0.06707317073170732|0.06707317073170732	71|71	0.19613259668508287|0.19613259668508287	25|25	0.043706293706293704|0.043706293706293704	249|249	0.32849604221635886|0.32849604221635886	C|C	17.56|17.56	3.420969|3.420969	0.62622|0.62622	0.095098|0.095098	0.356047|0.356047	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229;ENST00000481730	T;T|T	0.37235|0.54866	1.21;1.21|0.55	4.46|4.46	3.55|3.55	0.40652|0.40652	Single-minded, C-terminal (2);|.	6.537880|.	0.00166|.	N|.	0.000004|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.59436|0.59436	1.845|1.845	0.34763|0.34763	P|P	0.267038|0.267038	D;D|.	0.71674|.	0.966;0.998|.	P;D|.	0.74348|.	0.908;0.983|.	T|T	0.30880|0.30880	-0.9963|-0.9963	9|6	0.34782|0.87932	T|D	0.22|0	.|.	11.0463|11.0463	0.47861|0.47861	0.0:0.8471:0.0:0.1529|0.0:0.8471:0.0:0.1529	rs2073601;rs52828939;rs58314380;rs2073601|rs2073601;rs52828939;rs58314380;rs2073601	483;483|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	M|N	483|420;79	ENSP00000290399:L483M;ENSP00000404176:L483M|ENSP00000392003:T420N	ENSP00000290399:L483M|ENSP00000392003:T420N	L|T	+|+	1|2	2|0	SIM2|SIM2	37039178|37039178	0.123000|0.123000	0.22298|0.22298	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.413000|0.413000	0.21148|0.21148	2.194000|2.194000	0.70268|0.70268	0.558000|0.558000	0.71614|0.71614	CTG|ACT	C|0.777;A|0.223	0.223	strong		0.582	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38117308	C	A	38117308	3	1	3	1	0	0	0	0	1	0	0	0	14324	564	20	4	1485	4	SIM2	21	38117308	Missense_Mutation	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	6407617	38117308	10012587	403	842										
DSCAM	1826	hgsc.bcm.edu	37	chr21	41414420	41414420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgctggaggtcagactgtccGtgtactcatttgtccctgcc	11	12	2	1	rs200410460		TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr21:41414420G>A	ENST00000400454.1	-	32	6041	c.5564C>T	c.(5563-5565)aCg>aTg	p.T1855M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1855					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGACTGTCCGTGTACTCATT	0.527																																					p.T1855M	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											.	DSCAM	347	.	0			c.C5564T						PASS	.	G	MET/THR	1,4227		0,1,2113	185	179	181		5564	5.3	1	21		181	1,8449		0,1,4224	yes	missense	DSCAM	NM_001389.3	81	0,2,6337	AA,AG,GG		0.0118,0.0237,0.0158	probably-damaging	1855/2013	41414420	2,12676	2114	4225	6339	SO:0001583	missense	1826	exon32			CTGTCCGTGTACT	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5564C>T	21.37:g.41414420G>A	ENSP00000383303:p.Thr1855Met	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	81	31	0.382716	NM_001271534	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	g	18.87	3.716437	0.68844	2.37E-4	1.18E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60424	0.19;0.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.27053	0.805	0.36068	D	0.841933	D	0.89917	1.0	D	0.83275	0.996	T	0.73458	-0.3976	10	0.72032	D	0.01	.	14.4825	0.67592	0.0:0.1467:0.8533:0.0	.	1855	O60469	DSCAM_HUMAN	M	1855;1607	ENSP00000383303:T1855M;ENSP00000385342:T1607M	ENSP00000383303:T1855M	T	-	2	0	DSCAM	40336290	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.419000	0.73345	2.458000	0.83093	0.655000	0.94253	ACG	.	.	weak		0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41414420	G	A	41414420	3	1	3	1	0	0	0	0	1	0	0	0	4768	1145	40	1	482	1	DSCAM	21	41414420	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3297112	41414420	6715475	404	843										
COL6A2	1292	hgsc.bcm.edu	37	chr21	47545823	47545823	+	Silent	SNP	G	G	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagaacctcgagtggattgcGggcggcacctggacaccctc					rs13052956	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr21:47545823G>A	ENST00000300527.4	+	26	2198	c.2094G>A	c.(2092-2094)gcG>gcA	p.A698A	COL6A2_ENST00000357838.4_Silent_p.A698A|COL6A2_ENST00000409416.1_Silent_p.A698A|COL6A2_ENST00000310645.5_Silent_p.A698A|COL6A2_ENST00000397763.1_Silent_p.A698A	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	698	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTGGATTGCGGGCGGCACCT	0.607													G|||	1974	0.394169	0.208	0.6398	5008	,	,		14604	0.4306		0.5109	False		,,,				2504	0.3139				p.A698A		Atlas-SNP	.											.	COL6A2	351	.	0			c.G2094A						PASS	.	G	,,	1065,3341	387.2+/-326.4	148,769,1286	76	69	72		2094,2094,2094	-8.4	0	21	dbSNP_121	72	4303,4297	576.5+/-390.4	1047,2209,1044	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	1195,2978,2330	AA,AG,GG		49.9651,24.1716,41.2733	,,	698/1020,698/919,698/829	47545823	5368,7638	2203	4300	6503	SO:0001819	synonymous_variant	1292	exon26			GATTGCGGGCGGC	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2094G>A	21.37:g.47545823G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	121	5	0.0413223	NM_058175	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																			G|0.578;A|0.422	0.422	strong		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47545823	G	A	47545823	2	1	3	1	0	0	0	0	0	0	0	1	3700	1103	39	1		1	COL6A2	21	47545823	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	6131403	47545823	584072	405	844	18	2								
COL6A2	1292	hgsc.bcm.edu	37	chr21	47545826	47545826	+	Silent	SNP	C	C	T													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aacctcgagtggattgcgggCggcacctggacaccctcagc					rs13046639	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr21:47545826C>T	ENST00000300527.4	+	26	2201	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	COL6A2_ENST00000357838.4_Silent_p.G699G|COL6A2_ENST00000409416.1_Silent_p.G699G|COL6A2_ENST00000310645.5_Silent_p.G699G|COL6A2_ENST00000397763.1_Silent_p.G699G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	699	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGATTGCGGGCGGCACCTGGA	0.612													C|||	1973	0.39397	0.208	0.6383	5008	,	,		14617	0.4306		0.5109	False		,,,				2504	0.3139				p.G699G		Atlas-SNP	.											.	COL6A2	351	.	0			c.C2097T						PASS	.	C	,,	1062,3344	387.2+/-326.4	148,766,1289	76	70	72		2097,2097,2097	-8.4	0	21	dbSNP_121	72	4304,4296	576.8+/-390.4	1048,2208,1044	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	1196,2974,2333	TT,TC,CC		49.9535,24.1035,41.2579	,,	699/1020,699/919,699/829	47545826	5366,7640	2203	4300	6503	SO:0001819	synonymous_variant	1292	exon26			TGCGGGCGGCACC	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2097C>T	21.37:g.47545826C>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	119	6	0.0504202	NM_058175	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																			C|0.584;T|0.416	0.416	strong		0.612	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47545826	C	T	47545826	2	4	3	1	0	0	0	0	0	0	0	1	3700	755	27	1		1	COL6A2	21	47545826	Silent	SNP	C	TCGA-FA-A4XK-01A-11D-A31X-10	3	47545826	584069	406	845	18	2								
DGCR2	9993	hgsc.bcm.edu	37	chr22	19026613	19026613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gggctggcaggctgacctccAcaggctcaaaagcatcatcg	12	13	2	1	rs2072123	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:19026613A>G	ENST00000263196.7	-	10	1665	c.1418T>C	c.(1417-1419)gTg>gCg	p.V473A	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.V432A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	473			V -> A (in dbSNP:rs2072123). {ECO:0000269|PubMed:7655455}.		cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCTGACCTCCACAGGCTCAAA	0.642													G|||	2161	0.43151	0.5696	0.4078	5008	,	,		16113	0.3442		0.3559	False		,,,				2504	0.4294				p.V473A		Atlas-SNP	.											.	DGCR2	45	.	0			c.T1418C						PASS	.	G	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	2235,2169		580,1075,547	36	37	37		1295,1286,1409,1418	-4.4	0	22	dbSNP_96	37	3254,5346		636,1982,1682	yes	missense,missense,missense,missense	DGCR2	NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2	64,64,64,64	1216,3057,2229	GG,GA,AA		37.8372,49.2507,42.2101	benign,benign,benign,benign	432/510,429/507,470/548,473/551	19026613	5489,7515	2202	4300	6502	SO:0001583	missense	9993	exon10			ACCTCCACAGGCT	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1418T>C	22.37:g.19026613A>G	ENSP00000263196:p.Val473Ala	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	94	5	0.0531915	NM_005137	A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	CCDS33598.1	862	0.3946886446886447	254	0.516260162601626	145	0.4005524861878453	193	0.3374125874125874	270	0.3562005277044855	G	0.469	-0.885473	0.02511	0.507493	0.378372	ENSG00000070413	ENST00000537045;ENST00000263196	T;T	0.41400	1.0;1.0	5.61	-4.41	0.03590	.	0.768784	0.12964	N	0.424762	T	0.00012	0.0000	N	0.04043	-0.29	0.51012	P	9.300000000000974E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35895	-0.9770	9	0.07175	T	0.84	.	2.7147	0.05184	0.4604:0.0899:0.2668:0.1829	rs2072123;rs17743390;rs56724907;rs2072123	429;473	B7Z3T5;P98153	.;IDD_HUMAN	A	432;473	ENSP00000440062:V432A;ENSP00000263196:V473A	ENSP00000263196:V473A	V	-	2	0	DGCR2	17406613	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.707000	0.05041	-1.523000	0.01767	-1.714000	0.00712	GTG	T|0.004;G|0.408	0.408	strong		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		G	19026613	A	G	19026613	3	3	3	1	0	0	0	0	1	0	0	0	4461	159	6	2	238	2	DGCR2	22	19026613	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10		19026613	32277953	407	846										
ZNF280A	129025	hgsc.bcm.edu	37	chr22	22868773	22868773	+	Silent	SNP	G	G	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	taatggcaaacctggcacacGtagggcatttcgccaggctt					rs361737	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:22868773G>A	ENST00000302097.3	-	2	1434	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGGCACACGTAGGGCATTT	0.433													A|||	2379	0.47504	0.2405	0.7334	5008	,	,		19326	0.4137		0.7068	False		,,,				2504	0.4335				p.Y394Y		Atlas-SNP	.											ZNF280A,NS,adenoma,0,1	ZNF280A	67	1	0			c.C1182T						PASS	.	A		1356,3050	691.9+/-405.5	220,916,1067	124	103	110		1182	-2.9	0.1	22	dbSNP_79	110	5850,2746	436.8+/-358.4	2005,1840,453	no	coding-synonymous	ZNF280A	NM_080740.3		2225,2756,1520	AA,AG,GG		31.9451,30.7762,44.5778		394/543	22868773	7206,5796	2203	4298	6501	SO:0001819	synonymous_variant	129025	exon2			GCACACGTAGGGC	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1182C>T	22.37:g.22868773G>A		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_080740		Silent	SNP	ENST00000302097.3	37	CCDS13800.1																																																																																			G|0.453;A|0.547	0.547	strong		0.433	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		A	22868773	G	A	22868773	2	1	3	1	0	0	0	0	0	0	0	1	17811	1140	40	1		1	ZNF280A	22	22868773	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3842160	22868773	28435793	408	847	19	2								
ZNF280A	129025	hgsc.bcm.edu	37	chr22	22868776	22868776	+	Silent	SNP	G	G	A													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tggcaaacctggcacacgtaGggcatttcgccaggcttatg					rs362173	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:22868776G>A	ENST00000302097.3	-	2	1431	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCACACGTAGGGCATTTCGC	0.443													G|||	2379	0.47504	0.2405	0.7334	5008	,	,		19167	0.4137		0.7068	False		,,,				2504	0.4335				p.P393P		Atlas-SNP	.											ZNF280A,NS,adenoma,0,1	ZNF280A	67	1	0			c.C1179T						PASS	.	G		1355,3051	449.8+/-349.2	220,915,1068	123	102	109		1179	0.5	0.7	22	dbSNP_79	109	5846,2748	677.3+/-403.4	2005,1836,456	no	coding-synonymous	ZNF280A	NM_080740.3		2225,2751,1524	AA,AG,GG		31.9758,30.7535,44.6077		393/543	22868776	7201,5799	2203	4297	6500	SO:0001819	synonymous_variant	129025	exon2			CACGTAGGGCATT	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1179C>T	22.37:g.22868776G>A		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_080740		Silent	SNP	ENST00000302097.3	37	CCDS13800.1																																																																																			G|0.454;A|0.546	0.546	strong		0.443	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		A	22868776	G	A	22868776	2	1	3	1	0	0	0	0	0	0	0	1	17811	987	35	2		2	ZNF280A	22	22868776	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	3	22868776	28435790	409	848	19	2								
RGL4	266747	hgsc.bcm.edu	37	chr22	24038847	24038847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggagaggaacccccagagagTccagatgaggctgcggaggc	17	10	0	4	rs1007298	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:24038847T>C	ENST00000290691.5	+	7	2303	c.1133T>C	c.(1132-1134)gTc>gCc	p.V378A	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.V242A	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	378	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		V -> A (in dbSNP:rs1007298). {ECO:0000269|PubMed:15489334}.		small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCCAGAGAGTCCAGATGAGG	0.652													c|||	3849	0.76857	0.9228	0.7594	5008	,	,		15783	0.6964		0.6799	False		,,,				2504	0.7321				p.V378A		Atlas-SNP	.											RGL4,brain,glioma,0,1	RGL4	29	1	0			c.T1133C						scavenged	.	C	ALA/VAL	3925,481		1749,427,27	42	42	42		1133	-0.4	0	22	dbSNP_86	42	5944,2654		2048,1848,403	yes	missense	RGL4	NM_153615.1	64	3797,2275,430	CC,CT,TT		30.8676,10.9169,24.108	benign	378/474	24038847	9869,3135	2203	4299	6502	SO:0001583	missense	266747	exon7			AGAGAGTCCAGAT		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1133T>C	22.37:g.24038847T>C	ENSP00000290691:p.Val378Ala	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	156	6	0.0384615	NM_153615	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	1648	0.7545787545787546	462	0.9390243902439024	261	0.7209944751381215	397	0.6940559440559441	528	0.6965699208443272	N	0.638	-0.814429	0.02798	0.890831	0.691324	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.28895	1.59;1.59;1.59	2.02	-0.409	0.12378	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.779762	0.11007	N	0.609879	T	0.00012	0.0000	N	0.00116	-2.08	0.58432	P	4.000000000004E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30592	-0.9973	9	0.02654	T	1	.	3.1695	0.06548	0.2063:0.5062:0.0:0.2875	rs1007298;rs52825200;rs58567223;rs1007298	242;378;378	E7EW79;E9PH87;Q8IZJ4	.;.;RGDSR_HUMAN	A	242;378;378;378	ENSP00000383951:V242A;ENSP00000290691:V378A;ENSP00000402142:V378A	ENSP00000290691:V378A	V	+	2	0	RGL4	22368847	0.976000	0.34144	0.027000	0.17364	0.385000	0.30292	0.711000	0.25764	-0.372000	0.07992	-0.246000	0.11932	GTC	T|0.235;C|0.765	0.765	strong		0.652	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		C	24038847	T	C	24038847	3	2	3	1	0	0	0	0	1	0	0	0	13279	1667	58	2	1159	2	RGL4	22	24038847	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	1170071	24038847	27265719	410	849										
CCDC157	550631	hgsc.bcm.edu	37	chr22	30765502	30765502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	atgccccctgcacaggctgcGgggccctgcatgtccgtggg	15	15	0	0	rs5749080	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:30765502G>A	ENST00000405659.1	+	4	1039	c.330G>A	c.(328-330)gcG>gcA	p.A110A	CCDC157_ENST00000338306.3_Silent_p.A110A			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	110										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACAGGCTGCGGGGCCCTGCA	0.652													G|||	768	0.153355	0.1324	0.1571	5008	,	,		17743	0.1458		0.2545	False		,,,				2504	0.0828				p.A110A		Atlas-SNP	.											.	CCDC157	86	.	0			c.G330A						PASS	.	G		680,3726	280.2+/-275.2	69,542,1592	41	40	41		330	-10.6	0	22	dbSNP_114	41	2211,6389	372.6+/-336.7	289,1633,2378	no	coding-synonymous	CCDC157	NM_001017437.2		358,2175,3970	AA,AG,GG		25.7093,15.4335,22.2282		110/753	30765502	2891,10115	2203	4300	6503	SO:0001819	synonymous_variant	550631	exon4			GGCTGCGGGGCCC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.330G>A	22.37:g.30765502G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	51	5	0.0980392	NM_001017437	Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																			A|0.198;C|0.000;G|0.802	0.198	strong		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30765502	G	A	30765502	2	1	3	1	0	0	0	0	0	0	0	1	2789	1103	39	1		1	CCDC157	22	30765502	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	6726655	30765502	20539064	411	850										
OSBP2	23762	hgsc.bcm.edu	37	chr22	31091139	31091139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaggcagtgccaagatcggaAcctgtgtccgagacgacgtc	14	11	0	2	rs13053290	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:31091139A>G	ENST00000332585.6	+	1	347	c.243A>G	c.(241-243)gaA>gaG	p.E81E	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.E81E|OSBP2_ENST00000382310.3_Silent_p.E81E|OSBP2_ENST00000403222.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	81					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAAGATCGGAACCTGTGTCCG	0.682													g|||	1261	0.251797	0.525	0.2104	5008	,	,		11206	0.004		0.2972	False		,,,				2504	0.1207				p.E81E		Atlas-SNP	.											OSBP2,NS,carcinoma,0,1	OSBP2	52	1	0			c.A243G						scavenged	.	T		1980,2314		487,1006,654	30	40	37		243	-0.1	0	22	dbSNP_121	37	2443,6075		333,1777,2149	no	coding-synonymous	OSBP2	NM_030758.3		820,2783,2803	GG,GA,AA		28.6804,46.1109,34.5223		81/917	31091139	4423,8389	2147	4259	6406	SO:0001819	synonymous_variant	23762	exon1			ATCGGAACCTGTG		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.243A>G	22.37:g.31091139A>G		Somatic	172	3	0.0174419		WXS	Illumina HiSeq	Phase_I	143	5	0.034965	NM_030758	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																			A|0.726;G|0.274	0.274	strong		0.682	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		G	31091139	A	G	31091139	2	3	3	1	0	0	0	0	0	0	0	1	11274	40	2	2		2	OSBP2	22	31091139	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	325637	31091139	20213427	412	851										
RFPL2	10739	hgsc.bcm.edu	37	chr22	32587027	32587027	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	ggaaagtcagcggcaccgtgGtggcagagaggcggcctcca	17	11	1	1	rs136472	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:32587027G>C	ENST00000400237.1	-	5	1804	c.869C>G	c.(868-870)aCc>aGc	p.T290S	RFPL2_ENST00000400236.3_Missense_Mutation_p.T200S|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.T229S|RFPL2_ENST00000248983.4_Missense_Mutation_p.T200S			O75678	RFPL2_HUMAN	ret finger protein-like 2	290	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		T -> S (in dbSNP:rs136472). {ECO:0000269|PubMed:10508838, ECO:0000269|PubMed:15461802}.				zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CGGCACCGTGGTGGCAGAGAG	0.527													.|||	2431	0.485423	0.8631	0.3804	5008	,	,		18985	0.1558		0.493	False		,,,				2504	0.3814				p.T290S		Atlas-SNP	.											.	RFPL2	81	.	0			c.C869G						PASS	.	C	SER/THR,SER/THR,SER/THR,SER/THR	3257,1149		1433,391,379	46	69	61		869,599,599,686	-0.6	0	22	dbSNP_78	61	3302,5294		1009,1284,2005	no	missense,missense,missense,missense	RFPL2	NM_001098527.2,NM_001159545.1,NM_001159546.1,NM_006605.3	58,58,58,58	2442,1675,2384	CC,CG,GG		38.4132,26.0781,49.5539	benign,benign,benign,benign	290/379,200/289,200/289,229/318	32587027	6559,6443	2203	4298	6501	SO:0001583	missense	10739	exon5			ACCGTGGTGGCAG	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.869C>G	22.37:g.32587027G>C	ENSP00000383096:p.Thr290Ser	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	179	8	0.0446927	NM_001098527		Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	953	0.43635531135531136	409	0.8313008130081301	125	0.3453038674033149	74	0.12937062937062938	345	0.4551451187335092	C	0.001	-3.005017	0.00044	0.739219	0.384132	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	0.311	-0.622	0.11560	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.00012	0.0000	N	0.00317	-1.655	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42498	-0.9448	8	0.02654	T	1	.	2.7132	0.05180	0.0:0.2836:0.261:0.4554	rs136472;rs13057808;rs16987632;rs56934845	290;229	O75678;O75678-3	RFPL2_HUMAN;.	S	229;200;200;290	ENSP00000248980:T229S;ENSP00000248983:T200S;ENSP00000383095:T200S;ENSP00000383096:T290S	ENSP00000248980:T229S	T	-	2	0	RFPL2	30917027	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-2.483000	0.00980	-2.820000	0.00344	-2.755000	0.00123	ACC	C|1.000;|0.000	1.000	weak		0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		C	32587027	G	C	32587027	3	2	3	1	0	0	0	0	1	0	0	0	13254	1261	44	4	271	4	RFPL2	22	32587027	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1495888	32587027	18717539	413	852										
SCUBE1	80274	hgsc.bcm.edu	37	chr22	43610207	43610207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gtatgttcctggcatacatgAcacacactggccgagctcac	9	13	1	1	rs138993	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chr22:43610207A>G	ENST00000360835.4	-	16	2068	c.1942T>C	c.(1942-1944)Tca>Cca	p.S648P	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	648			S -> P (in dbSNP:rs138993). {ECO:0000269|PubMed:12270931}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCATACATGACACACACTGG	0.642													G|||	2176	0.434505	0.3797	0.5865	5008	,	,		14946	0.0784		0.6789	False		,,,				2504	0.5164				p.S648P		Atlas-SNP	.											SCUBE1,NS,carcinoma,0,1	SCUBE1	105	1	0			c.T1942C						PASS	.		PRO/SER	1954,2452	620.6+/-393.6	448,1058,697	79	59	66		1942	3.8	1	22	dbSNP_78	66	5931,2669	428.4+/-355.9	2033,1865,402	yes	missense	SCUBE1	NM_173050.3	74	2481,2923,1099	GG,GA,AA		31.0349,44.3486,39.3741	benign	648/989	43610207	7885,5121	2203	4300	6503	SO:0001583	missense	80274	exon16			TACATGACACACA		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1942T>C	22.37:g.43610207A>G	ENSP00000354080:p.Ser648Pro	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	92	6	0.0652174	NM_173050	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	952	0.4358974358974359	185	0.37601626016260165	219	0.6049723756906077	55	0.09615384615384616	493	0.6503957783641161	g	1.626	-0.520336	0.04171	0.443486	0.689651	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.12255	2.7	3.81	3.81	0.43845	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.160270	0.56097	N	0.000023	T	0.00012	0.0000	N	0.01003	-1.06	0.09310	P	0.9999999999999984	B	0.02656	0.0	B	0.01281	0.0	T	0.25152	-1.0140	9	0.07813	T	0.8	.	11.924	0.52808	0.0866:0.0:0.9134:0.0	rs138993;rs60843257;rs138993	648	Q8IWY4	SCUB1_HUMAN	P	648;278	ENSP00000354080:S648P	ENSP00000354080:S648P	S	-	1	0	SCUBE1	41940151	1.000000	0.71417	0.976000	0.42696	0.167000	0.22549	4.576000	0.60915	0.958000	0.37956	-0.246000	0.11932	TCA	A|0.489;G|0.511	0.511	strong		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		G	43610207	A	G	43610207	3	3	3	1	0	0	0	0	1	0	0	0	13944	275	10	2	1052	2	SCUBE1	22	43610207	Missense_Mutation	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	11023180	43610207	7694359	414	853										
MXRA5	25878	hgsc.bcm.edu	37	chrX	3228411	3228411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gccacgcagcggtaggccccGgcgtccaccgaggagagacc	15	16	0	1	rs1635233	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:3228411G>A	ENST00000217939.6	-	7	7987	c.7833C>T	c.(7831-7833)gcC>gcT	p.A2611A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2611	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTAGGCCCCGGCGTCCACCG	0.607													g|||	2802	0.742252	0.6672	0.5202	3775	,	,		10932	0.5565		0.5209	False		,,,				2504	0.4847				p.A2611A		Atlas-SNP	.											.	MXRA5	815	.	0			c.C7833T						PASS	.	A		3229,558		1206,350,467,58,92	17	18	18		7833	-8.5	0	X	dbSNP_89	18	4289,2368		1029,1084,1147,301,682	no	coding-synonymous	MXRA5	NM_015419.3		2235,1434,1614,359,774	AA,AG,A,GG,G		35.5716,14.7346,28.0161		2611/2829	3228411	7518,2926	2173	4243	6416	SO:0001819	synonymous_variant	25878	exon7			GGCCCCGGCGTCC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7833C>T	X.37:g.3228411G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	124	7	0.0564516	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			A|1.000;|0.000	1.000	weak		0.607	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3228411	G	A	3228411	2	1	3	1	0	0	0	0	0	0	0	1	10003	1103	39	1		1	MXRA5	23	3228411	Silent	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10		3228411	152042149	415	854										
MXRA5	25878	hgsc.bcm.edu	37	chrX	3238733	3238733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tgttgtacttgataatcttgGagttgtaaactgtttgttct	9	4	2	1	rs1974522	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:3238733G>A	ENST00000217939.6	-	5	5147	c.4993C>T	c.(4993-4995)Cca>Tca	p.P1665S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1665			P -> S (in dbSNP:rs1974522).			extracellular vesicular exosome (GO:0070062)		p.P1665S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATAATCTTGGAGTTGTAAAC	0.423													G|||	1629	0.431523	0.2118	0.3905	3775	,	,		16126	0.2728		0.4573	False		,,,				2504	0.3507				p.P1665S		Atlas-SNP	.											.	MXRA5	815	.	2	Substitution - Missense(2)	stomach(2)	c.C4993T						PASS	.	G	SER/PRO	1167,2668		139,714,175,779,396	166	158	161		4993	2.3	0	X	dbSNP_92	161	3839,2889		793,1187,1066,448,806	yes	missense	MXRA5	NM_015419.3	74	932,1901,1241,1227,1202	AA,AG,A,GG,G		42.94,30.4302,47.3918	probably-damaging	1665/2829	3238733	5006,5557	2203	4300	6503	SO:0001583	missense	25878	exon5			ATCTTGGAGTTGT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4993C>T	X.37:g.3238733G>A	ENSP00000217939:p.Pro1665Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	140	6	0.0428571	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	743	0.4478601567209162	70	0.16203703703703703	89	0.31338028169014087	105	0.23863636363636365	240	0.43636363636363634	g	9.833	1.188977	0.21954	0.304302	0.5706	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63096	-0.02	3.2	2.3	0.28687	.	0.184807	0.26149	U	0.026059	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.39809	0.689	B	0.31547	0.132	T	0.46965	-0.9153	9	0.51188	T	0.08	.	11.4118	0.49929	0.0:0.0:0.8176:0.1824	rs1974522;rs3752335;rs17335205;rs57959586;rs1974522	1665	Q9NR99	MXRA5_HUMAN	S	1665	ENSP00000217939:P1665S	ENSP00000217939:P1665S	P	-	1	0	MXRA5	3248733	0.091000	0.21658	0.004000	0.12327	0.040000	0.13550	1.291000	0.33330	0.345000	0.23873	0.431000	0.28591	CCA	0|0.015;A|0.441;C|0.000;G|0.544;N|0.000	0.441	strong		0.423	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3238733	G	A	3238733	3	1	3	1	0	0	0	0	1	0	0	0	10003	1174	41	2	3505	2	MXRA5	23	3238733	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	10322	3238733	152031827	416	855										
MXRA5	25878	hgsc.bcm.edu	37	chrX	3240343	3240343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	tttgccttggtgttgttgttGctgttgtggtgtctttgtct	13	5	2	0	rs1635246	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:3240343G>A	ENST00000217939.6	-	5	3537	c.3383C>T	c.(3382-3384)gCa>gTa	p.A1128V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1128			A -> V (in dbSNP:rs1635246). {ECO:0000269|Ref.1}.			extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTTGTTGTTGCTGTTGTGGT	0.502													G|||	1964	0.520265	0.447	0.415	3775	,	,		15049	0.2728		0.4602	False		,,,				2504	0.3548				p.A1128V		Atlas-SNP	.											.	MXRA5	815	.	0			c.C3383T						PASS	.	-	VAL/ALA	2239,1596		552,796,339,284,232	107	88	94		3383	-6.3	0	X	dbSNP_89	94	3847,2881		796,1188,1067,444,805	yes	missense	MXRA5	NM_015419.3	64	1348,1984,1406,728,1037	AA,AG,A,GG,G		42.821,41.6167,42.3838	benign	1128/2829	3240343	6086,4477	2203	4300	6503	SO:0001583	missense	25878	exon5			GTTGTTGCTGTTG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3383C>T	X.37:g.3240343G>A	ENSP00000217939:p.Ala1128Val	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	138	6	0.0434783	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	878	0.5292344786015672	159	0.4441340782122905	93	0.33214285714285713	105	0.23863636363636365	242	0.4416058394160584	g	9.113	1.007028	0.19199	0.583833	0.57179	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70399	-0.48	3.61	-6.31	0.02001	.	0.667190	0.12097	N	0.499817	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.39187	-0.9626	9	0.23302	T	0.38	.	3.9428	0.09334	0.1509:0.1155:0.6164:0.1172	rs1635246;rs3764755;rs56693232;rs1635246	1128	Q9NR99	MXRA5_HUMAN	V	1128	ENSP00000217939:A1128V	ENSP00000217939:A1128V	A	-	2	0	MXRA5	3250343	0.005000	0.15991	0.000000	0.03702	0.017000	0.09413	1.488000	0.35551	-1.519000	0.01775	0.519000	0.50382	GCA	G|0.441;A|0.559	0.559	strong		0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3240343	G	A	3240343	3	1	3	1	0	0	0	0	1	0	0	0	10003	1319	46	2	5115	2	MXRA5	23	3240343	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	1610	3240343	152030217	417	856										
MXRA5	25878	hgsc.bcm.edu	37	chrX	3241256	3241256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	agatgctgaggggggagaaaTagcaggaaaaggtggtgtga	19	2	0	4	rs5983119	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:3241256T>C	ENST00000217939.6	-	5	2624	c.2470A>G	c.(2470-2472)Att>Gtt	p.I824V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	824			I -> V (in dbSNP:rs5983119). {ECO:0000269|Ref.1}.			extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGAGAAATAGCAGGAAAA	0.488													C|||	2831	0.749934	0.6853	0.5216	3775	,	,		14207	0.5595		0.5288	False		,,,				2504	0.4775				p.I824V		Atlas-SNP	.											.	MXRA5	815	.	0			c.A2470G						PASS	.	C	VAL/ILE	3360,475		1270,329,491,33,80	128	127	128		2470	0.1	0	X	dbSNP_114	128	4339,2389		1019,1109,1192,300,680	yes	missense	MXRA5	NM_015419.3	29	2289,1438,1683,333,760	CC,CT,C,TT,T		35.5083,12.3859,27.1135	benign	824/2829	3241256	7699,2864	2203	4300	6503	SO:0001583	missense	25878	exon5			GAGAAATAGCAGG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2470A>G	X.37:g.3241256T>C	ENSP00000217939:p.Ile824Val	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	131	6	0.0458015	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	1233	0.7432188065099458	236	0.8251748251748252	131	0.5077519379844961	206	0.5885714285714285	272	0.5291828793774319	c	0.011	-1.733413	0.00687	0.876141	0.644917	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61274	0.12	3.63	0.0923	0.14472	.	1.970240	0.02957	N	0.142505	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	9	0.02654	T	1	.	2.6272	0.04933	0.1281:0.4316:0.2503:0.1899	rs5983119;rs6420602;rs17259953;rs52798373;rs58224949;rs5983119	824	Q9NR99	MXRA5_HUMAN	V	824	ENSP00000217939:I824V	ENSP00000217939:I824V	I	-	1	0	MXRA5	3251256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.202000	0.17295	0.025000	0.15241	-0.252000	0.11476	ATT	0|0.003;C|0.749	0.749	strong		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3241256	T	C	3241256	3	2	3	1	0	0	0	0	1	0	0	0	10003	1406	49	2	6028	2	MXRA5	23	3241256	Missense_Mutation	SNP	T	TCGA-FA-A4XK-01A-11D-A31X-10	913	3241256	152029304	418	857										
AR	367	hgsc.bcm.edu	37	chrX	66765228	66765242	+	In_Frame_Del	DEL	AGAGACTAGCCCCAG	AGAGACTAGCCCCAG	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	cagcagcagcagcagcagcaAgagactagccccaggcagca							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	AGAGACTAGCCCCAG	AGAGACTAGCCCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:66765228_66765242delAGAGACTAGCCCCAG	ENST00000374690.3	+	1	764_778	c.240_254delAGAGACTAGCCCCAG	c.(238-255)caagagactagccccagg>cag	p.ETSPR81del	AR_ENST00000504326.1_In_Frame_Del_p.ETSPR81del|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Del_p.ETSPR81del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	79	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcaagagactagccccaggcagcagcag	0.637									Androgen Insensitivity Syndrome																												p.80_85del		Atlas-Indel	.											.	AR	249	.	0			c.239_253del						PASS	.			19,3613		1,10,7,1561,481						4.9	1		dbSNP_102	10	116,6256		1,61,53,2278,1639	no	coding	AR	NM_000044.3		2,71,60,3839,2120	A1A1,A1R,A1,RR,R		1.8205,0.5231,1.3495				135,9869				SO:0001651	inframe_deletion	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	.	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.240_254delAGAGACTAGCCCCAG	X.37:g.66765228_66765242delAGAGACTAGCCCCAG	ENSP00000363822:p.Glu81_Arg85del	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	105	23	0.219048	NM_000044	A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	CCDS14387.1																																																																																			.	.	alt		0.637	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		-	66765242	AGAGACTAGCCCCAG	-	66765228	7	5	3	1	0	1	0	1	0	0	0	0	836	69	3	0	242	0	AR	23	66765228	In_Frame_Del	DEL	AGAGACTAGCCCCAG	TCGA-FA-A4XK-01A-11D-A31X-10	63523972	66765228	88505332	419	858										
MAGEA8	4107	hgsc.bcm.edu	37	chrX	149013727	149013727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gaggaggcaatctgggaagcAttgagtgtgatggggctgta	18	4	1	2	rs5983916	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:149013727A>G	ENST00000542674.1	+	3	1202	c.681A>G	c.(679-681)gcA>gcG	p.A227A	MAGEA8_ENST00000535454.1_Silent_p.A227A|MAGEA8_ENST00000286482.1_Silent_p.A227A	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	227	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAAGCATTGAGTGTGA	0.567													N|||	3349	0.887152	0.7383	0.683	3775	,	,		13626	0.6736		0.6103	False		,,,				2504	0.6196				p.A227A		Atlas-SNP	.											.	MAGEA8	40	.	0			c.A681G						PASS	.	G	,,	3674,161		1491,140,552,1,19	96	86	89		681,681,681	-2	0	X	dbSNP_114	89	5346,1380		1535,786,1490,107,380	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	,,	3026,926,2042,108,399	GG,GA,G,AA,A		20.5174,4.1982,14.5914	,,	227/319,227/319,227/319	149013727	9020,1541	2203	4298	6501	SO:0001819	synonymous_variant	4107	exon3			GGAAGCATTGAGT		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.681A>G	X.37:g.149013727A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	121	8	0.0661157	NM_005364	Q9BUN9	Silent	SNP	ENST00000542674.1	37	CCDS14692.1																																																																																			A|0.130;0|0.004	.	strong		0.567	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		G	149013727	A	G	149013727	2	3	3	1	0	0	0	0	0	0	0	1	9171	204	8	2		2	MAGEA8	23	149013727	Silent	SNP	A	TCGA-FA-A4XK-01A-11D-A31X-10	82248499	149013727	6256833	420	859										
PASD1	139135	hgsc.bcm.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																					p.228_229del		Atlas-Indel	.											.	PASD1	286	.	2	Substitution - coding silent(2)	lung(2)	c.684_686del						PASS	.																																			SO:0001651	inframe_deletion	139135	exon9			.	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	111	10	0.0900901	NM_173493	Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	CCDS35431.1																																																																																			.	.	none		0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		-	150817144	GCT	-	150817142	7	5	3	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-FA-A4XK-01A-11D-A31X-10	1803415	150817142	4453418	421	860										
PLXNA3	55558	hgsc.bcm.edu	37	chrX	153692374	153692374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0314769975786925	13	1	0.4531866020715	1.35202239911144	0.255228718199609	1	1	0	gagcaagtgtgtccaggtgcGggtccggcccaacaatgtgt	15	10	0	0	rs150546014	byFrequency	TCGA-FA-A4XK-01A-11D-A31X-10	TCGA-FA-A4XK-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1c24a152-3311-444f-bda2-4612303ddc50	cbaae798-7a40-44d1-b164-ebf0f6a2b8fa	g.chrX:153692374G>A	ENST00000369682.3	+	7	1803	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	543					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCAGGTGCGGGTCCGGCCC	0.677													g|||	4	0.0010596	0.0023	0.0	3775	,	,		11949	0.0		0.001	False		,,,				2504	0.0				p.R543Q		Atlas-SNP	.											.	PLXNA3	156	.	0			c.G1628A						PASS	.		GLN/ARG	19,3813		0,15,4,1617,564	48	36	40		1628	2	1	X	dbSNP_134	40	14,6712		0,9,5,2419,1865	yes	missense	PLXNA3	NM_017514.3	43	0,24,9,4036,2429	AA,AG,A,GG,G		0.2081,0.4958,0.3126	benign	543/1872	153692374	33,10525	2200	4298	6498	SO:0001583	missense	55558	exon7			AGGTGCGGGTCCG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1628G>A	X.37:g.153692374G>A	ENSP00000358696:p.Arg543Gln	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_017514	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	10.66	1.413812	0.25465	0.004958	0.002081	ENSG00000130827	ENST00000369682	T	0.00873	5.59	4.84	1.99	0.26369	.	0.457771	0.21675	N	0.070816	T	0.00666	0.0022	N	0.19112	0.55	0.21416	N	0.999696	B	0.09022	0.002	B	0.01281	0.0	T	0.48570	-0.9024	10	0.25751	T	0.34	.	3.926	0.09263	0.3255:0.1948:0.4798:0.0	.	543	P51805	PLXA3_HUMAN	Q	543	ENSP00000358696:R543Q	ENSP00000358696:R543Q	R	+	2	0	PLXNA3	153345568	0.000000	0.05858	0.999000	0.59377	0.934000	0.57294	0.077000	0.14738	0.477000	0.27464	-0.175000	0.13238	CGG	G|0.997;A|0.003	0.003	strong		0.677	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153692374	G	A	153692374	3	1	3	1	0	0	0	0	1	0	0	0	12121	1116	39	1	1650	1	PLXNA3	23	153692374	Missense_Mutation	SNP	G	TCGA-FA-A4XK-01A-11D-A31X-10	2875232	153692374	1578186	422	861										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1431048	1431048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcacctcatggagcctggccAcggacccctcctacccctgc	8	20	2	0	rs201429000		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:1431048A>G	ENST00000308647.7	+	16	1914	c.1798A>G	c.(1798-1800)Acg>Gcg	p.T600A		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	600						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCCTGGCCACGGACCCCTC	0.672																																					p.T600A		Atlas-SNP	.											ATAD3B,NS,neuroblastoma,0,1	ATAD3B	68	1	0			c.A1798G						scavenged	.																																			SO:0001583	missense	83858	exon16			CTGGCCACGGACC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1798A>G	1.37:g.1431048A>G	ENSP00000311766:p.Thr600Ala	Somatic	69	1	0.0144928		WXS	Illumina HiSeq	Phase_I	56	4	0.0714286	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.129716	0.00338	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.93189	-3.18	1.2	-1.67	0.08238	.	0.186138	0.20546	N	0.090207	T	0.78220	0.4249	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65792	-0.6082	10	0.12766	T	0.61	.	2.0444	0.03557	0.4037:0.0:0.3428:0.2535	.	554;600	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	A	434;600	ENSP00000311766:T600A	ENSP00000311766:T600A	T	+	1	0	ATAD3B	1420911	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	0.259000	0.18405	-1.264000	0.02452	-1.032000	0.02404	ACG	.	.	weak		0.672	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		G	1431048	A	G	1431048	3	3	4	1	0	0	0	0	1	0	0	0	1074	159	6	2	1860	2	ATAD3B	1	1431048	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10		1431048	247819573	1	862										
CHD5	26038	hgsc.bcm.edu	37	chr1	6189098	6189098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggtagatcatcaccttcttgTtctggccgatgcggtgggcg	14	10	4	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:6189098T>A	ENST00000262450.3	-	23	3518	c.3419A>T	c.(3418-3420)aAc>aTc	p.N1140I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACCTTCTTGTTCTGGCCGAT	0.642																																					p.N1140I		Atlas-SNP	.											.	CHD5	267	.	0			c.A3419T						PASS	.						53	49	50					1																	6189098		2203	4300	6503	SO:0001583	missense	26038	exon23			TTCTTGTTCTGGC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3419A>T	1.37:g.6189098T>A	ENSP00000262450:p.Asn1140Ile	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	43	7	0.162791	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883183	0.72410	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.75938	-0.98	4.62	4.62	0.57501	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	N	0.16201	0.385	0.80722	D	1	P	0.46512	0.879	B	0.43575	0.424	T	0.68584	-0.5370	10	0.56958	D	0.05	-42.1979	14.314	0.66434	0.0:0.0:0.0:1.0	.	1140	Q8TDI0	CHD5_HUMAN	I	1140;656;548;548	ENSP00000262450:N1140I	ENSP00000262450:N1140I	N	-	2	0	CHD5	6111685	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.606000	0.61126	1.839000	0.53478	0.459000	0.35465	AAC	.	.	none		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6189098	T	A	6189098	3	1	4	1	0	0	0	0	1	0	0	0	3328	1725	60	5	2521	5	CHD5	1	6189098	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	4758050	6189098	243061523	2	863										
ESPN	83715	hgsc.bcm.edu	37	chr1	6504644	6504644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	taccacggtgtcggtccagcCgctgaactttgacctcagct	10	14	1	2	rs201251427		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:6504644C>T	ENST00000377828.1	+	6	1262	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	365					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCGGTCCAGCCGCTGAACTTT	0.617																																					p.P365L		Atlas-SNP	.											ESPN,NS,carcinoma,+1,1	ESPN	32	1	0			c.C1094T						PASS	.						134	98	110					1																	6504644		2203	4300	6503	SO:0001583	missense	83715	exon6			TCCAGCCGCTGAA	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1094C>T	1.37:g.6504644C>T	ENSP00000367059:p.Pro365Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	113	26	0.230089	NM_031475	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	c	9.903	1.207541	0.22205	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	D;D	0.86562	-2.14;-2.14	3.77	1.77	0.24775	.	0.374614	0.20905	U	0.083577	T	0.74329	0.3702	L	0.29908	0.895	0.35234	D	0.777217	P	0.52061	0.95	B	0.35413	0.202	T	0.75542	-0.3281	10	0.59425	D	0.04	-2.8623	8.1598	0.31192	0.1648:0.5137:0.3215:0.0	.	365	B1AK53	ESPN_HUMAN	L	365;150	ENSP00000367059:P365L;ENSP00000401793:P150L	ENSP00000367059:P365L	P	+	2	0	ESPN	6427231	0.993000	0.37304	0.369000	0.25952	0.221000	0.24807	2.040000	0.41203	0.246000	0.21394	0.486000	0.48141	CCG	C|0.999;T|0.001	0.001	weak		0.617	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		T	6504644	C	T	6504644	3	4	4	1	0	0	0	0	1	0	0	0	5254	652	23	1	1116	1	ESPN	1	6504644	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	315546	6504644	242745977	3	864										
TNFRSF8	943	hgsc.bcm.edu	37	chr1	12123708	12123708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gttcctgggggcgctacgagCcttcccacaggtaagcgggt	15	12	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:12123708C>T	ENST00000263932.2	+	1	275	c.53C>T	c.(52-54)gCc>gTc	p.A18V	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	18					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GCGCTACGAGCCTTCCCACAG	0.736																																					p.A18V		Atlas-SNP	.											.	TNFRSF8	70	.	0			c.C53T						PASS	.						5	5	5					1																	12123708		1864	3572	5436	SO:0001583	missense	943	exon1			TACGAGCCTTCCC	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.53C>T	1.37:g.12123708C>T	ENSP00000263932:p.Ala18Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	84	20	0.238095	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710987	0.30322	.	.	ENSG00000120949	ENST00000263932	T	0.27256	1.68	3.03	3.03	0.35002	.	1.573450	0.04122	N	0.316409	T	0.37237	0.0996	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.36504	-0.9745	10	0.28530	T	0.3	-10.4661	9.7885	0.40690	0.0:1.0:0.0:0.0	.	18	P28908	TNR8_HUMAN	V	18	ENSP00000263932:A18V	ENSP00000263932:A18V	A	+	2	0	TNFRSF8	12046295	1.000000	0.71417	0.956000	0.39512	0.581000	0.36288	3.147000	0.50639	2.000000	0.58554	0.555000	0.69702	GCC	.	.	none		0.736	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12123708	C	T	12123708	3	4	4	1	0	0	0	0	1	0	0	0	16296	739	26	2	55	2	TNFRSF8	1	12123708	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	5619064	12123708	237126913	4	865										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855647	12855647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggctacctattggaagaagaCatgaagtgtctctcccagta	10	9	1	3	rs200536957		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:12855647C>T	ENST00000332296.7	+	4	1030	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PRAMEF1_ENST00000400814.3_Silent_p.D64D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAAGACATGAAGTGTC	0.498																																					p.D309D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,+2,2	PRAMEF1	78	2	0			c.C927T						scavenged	.						43	48	46					1																	12855647		2197	4275	6472	SO:0001819	synonymous_variant	65121	exon4			AGAAGACATGAAG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.927C>T	1.37:g.12855647C>T		Somatic	210	5	0.0238095		WXS	Illumina HiSeq	Phase_I	193	15	0.0777202	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			C|0.999;T|0.001	0.001	weak		0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855647	C	T	12855647	2	4	4	1	0	0	0	0	0	0	0	1	12425	477	17	2		2	PRAMEF1	1	12855647	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	731939	12855647	236394974	5	866										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919589	12919589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggatttgcgggatgttgatgAgaatttctgggccagatggc	16	5	1	3	rs367740116	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:12919589A>G	ENST00000240189.2	+	3	416	c.329A>G	c.(328-330)gAg>gGg	p.E110G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGTTGATGAGAATTTCTGG	0.547													.|||	74	0.0147764	0.003	0.0461	5008	,	,		20210	0.0159		0.0159	False		,,,				2504	0.0061				p.E110G		Atlas-SNP	.											PRAMEF2,NS,carcinoma,+1,1	PRAMEF2	85	1	0			c.A329G						scavenged	.						97	119	112					1																	12919589		2200	4293	6493	SO:0001583	missense	65122	exon3			TTGATGAGAATTT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.329A>G	1.37:g.12919589A>G	ENSP00000240189:p.Glu110Gly	Somatic	237	5	0.021097		WXS	Illumina HiSeq	Phase_I	222	10	0.045045	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	8.834	0.940654	0.18281	.	.	ENSG00000120952	ENST00000240189	T	0.18338	2.22	0.842	0.842	0.18927	.	1.946400	0.02597	N	0.100687	T	0.24624	0.0597	M	0.78223	2.4	0.09310	N	1	B	0.26318	0.146	B	0.31686	0.134	T	0.31052	-0.9957	10	0.45353	T	0.12	.	3.9732	0.09462	1.0:0.0:0.0:0.0	.	110	O60811	PRAM2_HUMAN	G	110	ENSP00000240189:E110G	ENSP00000240189:E110G	E	+	2	0	PRAMEF2	12842176	0.000000	0.05858	0.008000	0.14137	0.102000	0.19082	0.186000	0.16978	0.633000	0.30452	0.163000	0.16589	GAG	.	.	none		0.547	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919589	A	G	12919589	3	3	4	1	0	0	0	0	1	0	0	0	12435	304	11	3	335	3	PRAMEF2	1	12919589	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	63942	12919589	236331032	6	867										
FPGT	8790	hgsc.bcm.edu	37	chr1	74670119	74670119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgcaagtgctctgggaaaaAttttcactgctttacctctt	7	9	3	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:74670119A>C	ENST00000609362.1	+	4	425	c.388A>C	c.(388-390)Att>Ctt	p.I130L	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.I143L|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000482102.2_3'UTR|FPGT_ENST00000467578.2_3'UTR|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.I130L|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	130					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.I130F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCTGGGAAAAATTTTCACTGC	0.318																																					p.I130L		Atlas-SNP	.											FPGT,NS,carcinoma,0,1	FPGT	77	1	1	Substitution - Missense(1)	ovary(1)	c.A388C						PASS	.						102	115	111					1																	74670119		2203	4300	6503	SO:0001583	missense	8790	exon4			GGAAAAATTTTCA	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.388A>C	1.37:g.74670119A>C	ENSP00000476680:p.Ile130Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	86	11	0.127907	NM_001199328	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488872	0.44249	.	.	ENSG00000254685	ENST00000524915;ENST00000370898;ENST00000534056;ENST00000472069	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	T	0.46521	0.1397	L	0.60845	1.875	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.56	D;D;B	0.74348	0.983;0.912;0.388	T	0.38478	-0.9659	9	0.38643	T	0.18	.	15.7348	0.77834	1.0:0.0:0.0:0.0	.	130;130;130	B4DH62;E9PNQ2;O14772	.;.;FPGT_HUMAN	L	130;130;130;128	ENSP00000434802:I130L;ENSP00000359935:I130L;ENSP00000432819:I130L;ENSP00000433499:I128L	ENSP00000359935:I130L	I	+	1	0	TNNI3K	74442707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.944000	0.70219	2.116000	0.64780	0.482000	0.46254	ATT	.	.	none		0.318	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	74670119	A	C	74670119	3	2	4	1	0	0	0	0	1	0	0	0	6037	101	4	5	402	5	FPGT	1	74670119	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	61750530	74670119	174580502	7	868										
ACADM	34	hgsc.bcm.edu	37	chr1	76228440	76228440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgaacacattgacaagtacAaaaattaaaaaaattactgt	5	5	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:76228440A>G	ENST00000370841.4	+	12	1695	c.1258A>G	c.(1258-1260)Aaa>Gaa	p.K420E	ACADM_ENST00000481374.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.K453E|ACADM_ENST00000541113.1_Missense_Mutation_p.K384E|ACADM_ENST00000420607.2_Missense_Mutation_p.K424E|ACADM_ENST00000543667.1_Missense_Mutation_p.K231E	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	420					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)	TGACAAGTACAAAAATTAAAA	0.303																																					p.K424E		Atlas-SNP	.											.	ACADM	50	.	0			c.A1270G						PASS	.						22	25	24					1																	76228440		2173	4259	6432	SO:0001583	missense	34	exon12			AAGTACAAAAATT	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.1258A>G	1.37:g.76228440A>G	ENSP00000359878:p.Lys420Glu	Somatic	406	0	0		WXS	Illumina HiSeq	Phase_I	367	71	0.19346	NM_001127328	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333626	0.41297	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.97731	-4.51;-4.44;-4.49;-4.09;-4.51	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.137380	0.64402	D	0.000005	D	0.92519	0.7624	N	0.22421	0.69	0.54753	D	0.999987	B;B;B;B	0.20671	0.0;0.047;0.013;0.004	B;B;B;B	0.18561	0.001;0.022;0.008;0.003	D	0.90629	0.4565	10	0.87932	D	0	.	15.0981	0.72250	1.0:0.0:0.0:0.0	.	384;453;424;420	B7Z9I1;Q5T4U5;P11310-2;P11310	.;.;.;ACADM_HUMAN	E	420;453;384;231;424	ENSP00000359878:K420E;ENSP00000359871:K453E;ENSP00000442324:K384E;ENSP00000446176:K231E;ENSP00000409612:K424E	ENSP00000359871:K453E	K	+	1	0	ACADM	76001028	1.000000	0.71417	0.975000	0.42487	0.145000	0.21501	4.283000	0.58977	2.239000	0.73571	0.528000	0.53228	AAA	.	.	none		0.303	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			G	76228440	A	G	76228440	3	3	4	1	0	0	0	0	1	0	0	0	113	131	5	2	1316	2	ACADM	1	76228440	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	1558321	76228440	173022181	8	869										
LPHN2	23266	hgsc.bcm.edu	37	chr1	82415874	82415874	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	actcatcttttttccatagtGcctaccacagctgtgacaat	5	12	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:82415874G>T	ENST00000370728.1	+	9	1845	c.1200G>T	c.(1198-1200)gtG>gtT	p.V400V	LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000271029.4_Splice_Site_p.V400V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Splice_Site_p.V400V|LPHN2_ENST00000370717.2_Splice_Site_p.V400V|LPHN2_ENST00000370725.1_Splice_Site_p.V400V|LPHN2_ENST00000370723.1_Splice_Site_p.V400V|LPHN2_ENST00000319517.6_Splice_Site_p.V400V|LPHN2_ENST00000370713.1_Splice_Site_p.V400V|LPHN2_ENST00000370730.1_Splice_Site_p.V400V|LPHN2_ENST00000370715.1_Splice_Site_p.V400V|LPHN2_ENST00000359929.3_Splice_Site_p.V400V|LPHN2_ENST00000335786.5_Splice_Site_p.V400V|LPHN2_ENST00000370727.1_Splice_Site_p.V400V			O95490	LPHN2_HUMAN	latrophilin 2	400					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTCCATAGTGCCTACCACAG	0.418																																					p.V400V		Atlas-SNP	.											.	LPHN2	464	.	0			c.G1200T						PASS	.						161	165	163					1																	82415874		2203	4299	6502	SO:0001630	splice_region_variant	23266	exon6			CATAGTGCCTACC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1199-1G>T	1.37:g.82415874G>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	120	27	0.225	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	G	11.46	1.644199	0.29246	.	.	ENSG00000117114	ENST00000449420	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	T	0.72614	0.3482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68507	-0.5390	4	.	.	.	.	20.6402	0.99549	0.0:0.0:1.0:0.0	.	.	.	.	F	268	.	.	C	+	2	0	LPHN2	82188462	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.513000	0.60476	2.885000	0.99019	0.655000	0.94253	TGC	.	.	none		0.418	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	Silent	T	82415874	G	T	82415874	5	4	4	1	0	0	0	0	0	0	1	0	8916	1333	46	4	1218	4	LPHN2	1	82415874	Splice_Site	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	6187434	82415874	166834747	9	870										
ALX3	257	hgsc.bcm.edu	37	chr1	110607400	110607400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agggagtcccggggaaagagGaagatgcaggctggccaggc	19	8	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:110607400G>A	ENST00000369792.4	-	2	490	c.403C>T	c.(403-405)Cct>Tct	p.P135S	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	135					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGAAAGAGGAAGATGCAGG	0.632																																					p.P135S		Atlas-SNP	.											.	ALX3	16	.	0			c.C403T						PASS	.						70	78	76					1																	110607400		2203	4300	6503	SO:0001583	missense	257	exon2			AAAGAGGAAGATG	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.403C>T	1.37:g.110607400G>A	ENSP00000358807:p.Pro135Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	119	26	0.218487	NM_006492	O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235321	0.39498	.	.	ENSG00000156150	ENST00000369792	D	0.95447	-3.71	3.51	3.51	0.40186	Homeodomain-like (1);	0.158416	0.29806	N	0.011154	D	0.87386	0.6164	N	0.24115	0.695	0.09310	N	1	D	0.58620	0.983	P	0.51016	0.656	T	0.80659	-0.1284	10	0.24483	T	0.36	.	6.899	0.24273	0.1283:0.0:0.8717:0.0	.	135	O95076	ALX3_HUMAN	S	135	ENSP00000358807:P135S	ENSP00000358807:P135S	P	-	1	0	ALX3	110408923	0.987000	0.35691	0.899000	0.35326	0.924000	0.55760	3.339000	0.52135	1.940000	0.56252	0.462000	0.41574	CCT	.	.	none		0.632	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		A	110607400	G	A	110607400	3	1	4	1	0	0	0	0	1	0	0	0	557	1174	41	2	640	2	ALX3	1	110607400	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	28191526	110607400	138643221	10	871										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtcaccagtctgccgacaggTgcctccattgacacaaggtg	11	13	2	1	rs200464440		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.T235S		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2	348	2	0			c.A703T						scavenged	.						50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GACAGGTGCCTCC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser	Somatic	242	4	0.0165289		WXS	Illumina HiSeq	Phase_I	196	4	0.0204082	NM_001200001	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC	.	.	weak		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	4	1	0	0	0	0	1	0	0	0	10548	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	9932268	120539668	128710953	11	872										
HIST2H2BE	8349	hgsc.bcm.edu	37	chr1	149858111	149858111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggctgcgcttgcgcttcttgCcgtctttcttctgggctttg	12	12	4	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:149858111C>G	ENST00000369155.2	-	1	121	c.80G>C	c.(79-81)gGc>gCc	p.G27A	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	27					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCTTCTTGCCGTCTTTCTT	0.567																																					p.G27A		Atlas-SNP	.											HIST2H2BE,NS,carcinoma,0,2	HIST2H2BE	33	2	0			c.G80C						PASS	.						136	131	133					1																	149858111		2203	4300	6503	SO:0001583	missense	8349	exon1			TTCTTGCCGTCTT	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.80G>C	1.37:g.149858111C>G	ENSP00000358151:p.Gly27Ala	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	88	16	0.181818	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285780	0.59867	.	.	ENSG00000184678	ENST00000369155	T	0.23348	1.91	5.99	5.99	0.97316	Histone-fold (2);	0.137618	0.47093	D	0.000241	T	0.18593	0.0446	M	0.74881	2.28	0.35748	D	0.819229	B	0.26602	0.154	B	0.10450	0.005	T	0.05517	-1.0880	10	0.66056	D	0.02	.	13.3551	0.60623	0.0:0.9245:0.0:0.0755	.	27	Q16778	H2B2E_HUMAN	A	27	ENSP00000358151:G27A	ENSP00000358151:G27A	G	-	2	0	HIST2H2BE	148124735	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.440000	0.44855	2.857000	0.98124	0.650000	0.86243	GGC	.	.	none		0.567	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		G	149858111	C	G	149858111	3	3	4	1	0	0	0	0	1	0	0	0	7179	739	26	4	304	4	HIST2H2BE	1	149858111	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	29318443	149858111	99392510	12	873										
LINGO4	339398	hgsc.bcm.edu	37	chr1	151774688	151774688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cacaaataccaggtggttgtCcccaacctccagcttctgga	8	14	1	0	rs532798041	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:151774688C>A	ENST00000368820.3	-	2	1430	c.493G>T	c.(493-495)Gac>Tac	p.D165Y		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	165						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGGTTGTCCCCAACCTCC	0.602																																					p.D165Y		Atlas-SNP	.											.	LINGO4	51	.	0			c.G493T						PASS	.						52	59	57					1																	151774688		2203	4300	6503	SO:0001583	missense	339398	exon2			GGTTGTCCCCAAC		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.493G>T	1.37:g.151774688C>A	ENSP00000357810:p.Asp165Tyr	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	57	9	0.157895	NM_001004432		Missense_Mutation	SNP	ENST00000368820.3	37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132137	0.77662	.	.	ENSG00000213171	ENST00000368820	T	0.58060	0.36	5.29	5.29	0.74685	.	0.000000	0.51477	D	0.000100	T	0.54532	0.1864	L	0.31476	0.935	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55749	-0.8092	10	0.51188	T	0.08	.	16.4618	0.84059	0.0:1.0:0.0:0.0	.	165	Q6UY18	LIGO4_HUMAN	Y	165	ENSP00000357810:D165Y	ENSP00000357810:D165Y	D	-	1	0	LINGO4	150041312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.825000	0.62708	2.757000	0.94681	0.462000	0.41574	GAC	.	.	none		0.602	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		A	151774688	C	A	151774688	3	1	4	1	0	0	0	0	1	0	0	0	8817	855	30	4	1292	4	LINGO4	1	151774688	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	1916577	151774688	97475933	13	874										
FLG	2312	hgsc.bcm.edu	37	chr1	152284823	152284823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgccttcctcttctgcttgAccccgggtgtccacgaatgg	10	15	2	1	rs74129459	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:152284823A>G	ENST00000368799.1	-	3	2574	c.2539T>C	c.(2539-2541)Tca>Cca	p.S847P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	847	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTTGACCCCGGGTGT	0.582									Ichthyosis																												p.S847P		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.T2539C						scavenged	.						322	322	322					1																	152284823		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTTGACCCCGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2539T>C	1.37:g.152284823A>G	ENSP00000357789:p.Ser847Pro	Somatic	78	2	0.025641		WXS	Illumina HiSeq	Phase_I	81	5	0.0617284	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.279	0.608792	0.14066	.	.	ENSG00000143631	ENST00000368799	T	0.03772	3.81	3.63	2.44	0.29823	.	.	.	.	.	T	0.05731	0.0150	L	0.58428	1.81	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.31530	-0.9940	9	0.34782	T	0.22	.	6.6957	0.23197	0.7566:0.2434:0.0:0.0	.	847	P20930	FILA_HUMAN	P	847	ENSP00000357789:S847P	ENSP00000357789:S847P	S	-	1	0	FLG	150551447	0.001000	0.12720	0.003000	0.11579	0.020000	0.10135	0.252000	0.18278	0.443000	0.26582	0.392000	0.25879	TCA	A|0.984;T|0.016	.	alt		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284823	A	G	152284823	3	3	4	1	0	0	0	0	1	0	0	0	5922	275	10	2	9650	2	FLG	1	152284823	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	510135	152284823	96965798	14	875										
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		Atlas-SNP	.											.	LOR	19	.	0			c.A276C						PASS	.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	16	11	0.6875	NM_000427	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406	0.406	strong		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	4	1	0	0	0	0	0	0	0	1	8897	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	948878	153233701	96016920	15	876										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	64	4	0.0625		WXS	Illumina HiSeq	Phase_I	54	13	0.240741	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	4	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	1608542	154842243	94408378	16	877	20	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	65	1	0.0153846		WXS	Illumina HiSeq	Phase_I	55	13	0.236364	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	4	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	1	154842244	94408377	17	878	20	2								
RHBG	57127	hgsc.bcm.edu	37	chr1	156347192	156347192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgggcttcaccttcctcctGgccgcctttgccctgcagtg	11	16	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:156347192G>A	ENST00000368249.1	+	2	326	c.288G>A	c.(286-288)ctG>ctA	p.L96L	RHBG_ENST00000368246.2_Silent_p.L96L|RHBG_ENST00000451864.2_Silent_p.L27L|RHBG_ENST00000255013.3_Silent_p.L27L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Silent_p.L27L	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	96					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCTTCCTCCTGGCCGCCTTTG	0.622																																					p.L96L		Atlas-SNP	.											.	RHBG	133	.	0			c.G288A						PASS	.						113	117	116					1																	156347192		2200	4300	6500	SO:0001819	synonymous_variant	57127	exon2			CCTCCTGGCCGCC	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.288G>A	1.37:g.156347192G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	76	12	0.157895	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37																																																																																				.	.	none		0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156347192	G	A	156347192	2	1	4	1	0	0	0	0	0	0	0	1	13324	1335	47	2		2	RHBG	1	156347192	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1504948	156347192	92903429	18	879										
PRCC	5546	hgsc.bcm.edu	37	chr1	156737930	156737930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaggccctggcctcaatctgCcccctccaattggcggtgcc	11	17	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:156737930C>T	ENST00000271526.4	+	1	639	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	PRCC_ENST00000353233.3_Missense_Mutation_p.P123S|HDGF_ENST00000465180.1_5'Flank|PRCC_ENST00000491853.1_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	123					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCAATCTGCCCCCTCCAAT	0.677			T	TFE3	papillary renal																																p.P123S		Atlas-SNP	.		Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	.	PRCC	39	.	0			c.C367T						PASS	.						7	10	9					1																	156737930		2157	4211	6368	SO:0001583	missense	5546	exon1			AATCTGCCCCCTC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.367C>T	1.37:g.156737930C>T	ENSP00000271526:p.Pro123Ser	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	39	6	0.153846	NM_005973	A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398085	0.25205	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.66638	-0.22;-0.22	4.95	4.95	0.65309	.	0.336600	0.28766	N	0.014210	T	0.32071	0.0817	L	0.36672	1.1	0.48135	D	0.999597	B;B	0.17038	0.02;0.02	B;B	0.11329	0.006;0.006	T	0.13899	-1.0492	10	0.07030	T	0.85	-2.1728	9.1785	0.37127	0.0:0.9036:0.0:0.0964	.	123;123	A6NG79;Q92733	.;PRCC_HUMAN	S	123;123;67	ENSP00000271526:P123S;ENSP00000339300:P123S	ENSP00000271526:P123S	P	+	1	0	PRCC	155004554	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.096000	0.41738	2.576000	0.86940	0.655000	0.94253	CCC	.	.	none		0.677	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		T	156737930	C	T	156737930	3	4	4	1	0	0	0	0	1	0	0	0	12447	739	26	2	369	2	PRCC	1	156737930	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	390738	156737930	92512691	19	880										
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549535	158549535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gattacctgcaagggtgagaAggtagagacaaaagaagacc	13	6	0	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:158549535A>G	ENST00000368150.1	-	1	154	c.155T>C	c.(154-156)cTt>cCt	p.L52P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGGGTGAGAAGGTAGAGACA	0.443																																					p.L52P		Atlas-SNP	.											.	OR10X1	96	.	0			c.T155C						PASS	.						126	124	125					1																	158549535		2203	4300	6503	SO:0001583	missense	128367	exon1			GTGAGAAGGTAGA	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.155T>C	1.37:g.158549535A>G	ENSP00000357132:p.Leu52Pro	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	89	8	0.0898876	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918114	0.73098	.	.	ENSG00000186400	ENST00000368150	T	0.05786	3.39	5.13	5.13	0.70059	.	0.725423	0.11934	N	0.515453	T	0.14056	0.0340	M	0.87038	2.855	0.33910	D	0.639626	D	0.58620	0.983	P	0.52909	0.713	T	0.03463	-1.1034	10	0.87932	D	0	.	14.0613	0.64802	1.0:0.0:0.0:0.0	.	52	Q8NGY0	O10X1_HUMAN	P	52	ENSP00000357132:L52P	ENSP00000357132:L52P	L	-	2	0	OR10X1	156816159	0.487000	0.25988	0.233000	0.24025	0.993000	0.82548	5.407000	0.66363	2.139000	0.66308	0.528000	0.53228	CTT	.	.	none		0.443	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		G	158549535	A	G	158549535	3	3	4	1	0	0	0	0	1	0	0	0	10922	72	3	3	820	3	OR10X1	1	158549535	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	1811605	158549535	90701086	20	881										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186039858	186039858	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgaagcgtatgcaattccttCtgcctccctcagctggtaca	8	13	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:186039858C>A	ENST00000271588.4	+	52	8337	c.8108C>A	c.(8107-8109)tCt>tAt	p.S2703Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2703Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2703	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAATTCCTTCTGCCTCCCTC	0.413																																					p.S2703Y		Atlas-SNP	.											.	HMCN1	797	.	0			c.C8108A						PASS	.						125	118	121					1																	186039858		2203	4300	6503	SO:0001583	missense	83872	exon52			TTCCTTCTGCCTC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8108C>A	1.37:g.186039858C>A	ENSP00000271588:p.Ser2703Tyr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	131	23	0.175573	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283237	0.59867	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.71	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.394599	0.30879	N	0.008695	T	0.72859	0.3513	L	0.42686	1.345	0.29164	N	0.877576	D	0.76494	0.999	D	0.85130	0.997	T	0.67476	-0.5661	10	0.46703	T	0.11	.	8.9824	0.35972	0.0:0.7805:0.0:0.2195	.	2703	Q96RW7	HMCN1_HUMAN	Y	2703	ENSP00000271588:S2703Y;ENSP00000356462:S2703Y	ENSP00000271588:S2703Y	S	+	2	0	HMCN1	184306481	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.172000	0.50832	1.410000	0.46936	0.655000	0.94253	TCT	.	.	none		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186039858	C	A	186039858	3	1	4	1	0	0	0	0	1	0	0	0	7220	913	32	4	8314	4	HMCN1	1	186039858	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	27490323	186039858	63210763	21	882										
GPR25	2848	hgsc.bcm.edu	37	chr1	200843152	200843178	+	In_Frame_Del	DEL	GGCGCGAAGGATCAGCTCAGCCTCCTC	GGCGCGAAGGATCAGCTCAGCCTCCTC	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcgggcgcaccggccgcctGgcgcgaaggatcagctcagc					rs367604641		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	GGCGCGAAGGATCAGCTCAGCCTCCTC	GGCGCGAAGGATCAGCTCAGCCTCCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:200843152_200843178delGGCGCGAAGGATCAGCTCAGCCTCCTC	ENST00000304244.2	+	1	1070_1096	c.987_1013delGGCGCGAAGGATCAGCTCAGCCTCCTC	c.(985-1014)ctggcgcgaaggatcagctcagcctcctcg>ctg	p.ARRISSASS330del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	330					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGGCCGCCTGGCGCGAAGGATCAGCTCAGCCTCCTCGCTCTCCAGG	0.718																																					p.329_338del		Atlas-Indel	.											.	GPR25	23	.	0			c.986_1012del						PASS	.																																			SO:0001651	inframe_deletion	2848	exon1			.	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.987_1013delGGCGCGAAGGATCAGCTCAGCCTCCTC	1.37:g.200843152_200843178delGGCGCGAAGGATCAGCTCAGCCTCCTC	ENSP00000301917:p.Ala330_Ser338del	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	15	0.151515	NM_005298	A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	CCDS1405.1																																																																																			.	.	none		0.718	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		-	200843178	GGCGCGAAGGATCAGCTCAGCCTCCTC	-	200843152	7	5	4	1	0	1	0	1	0	0	0	0	6683	1335	47	0	989	0	GPR25	1	200843152	In_Frame_Del	DEL	GGCGCGAAGGATCAGCTCAGCCTCCTC	TCGA-FA-A6HN-01A-11D-A31X-10	14803294	200843152	48407469	22	883										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186947	203186947	+	Missense_Mutation	SNP	G	G	C													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	caaagtcatctaagtccagtGcccagaccatggccccgccc					rs201682373	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:203186947G>C	ENST00000367229.1	-	10	1110	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	CHIT1_ENST00000535569.1_Missense_Mutation_p.A350G|CHIT1_ENST00000255427.3_Missense_Mutation_p.A340G|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	359					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TAAGTCCAGTGCCCAGACCAT	0.637																																					p.A359G		Atlas-SNP	.											CHIT1,NS,carcinoma,0,1	CHIT1	61	1	0			c.C1076G						PASS	.						60	52	55					1																	203186947		2203	4300	6503	SO:0001583	missense	1118	exon10			TCCAGTGCCCAGA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1076C>G	1.37:g.203186947G>C	ENSP00000356198:p.Ala359Gly	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	74	9	0.121622	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728517	0.15507	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	4.57	0.302	0.15786	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.729039	0.11613	N	0.546569	T	0.10035	0.0246	M	0.85630	2.765	0.09310	N	1	B;B	0.27853	0.191;0.016	B;B	0.29176	0.099;0.04	T	0.34079	-0.9843	10	0.87932	D	0	-8.5687	2.2813	0.04115	0.1816:0.1509:0.5123:0.1553	.	350;359	G5EA51;Q13231	.;CHIT1_HUMAN	G	359;340;350	ENSP00000356198:A359G;ENSP00000255427:A340G;ENSP00000438078:A350G	ENSP00000255427:A340G	A	-	2	0	CHIT1	201453570	0.150000	0.22732	0.000000	0.03702	0.071000	0.16799	2.681000	0.46926	-0.144000	0.11314	0.563000	0.77884	GCA	G|0.988;C|0.012	0.012	strong		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		C	203186947	G	C	203186947	3	2	4	1	0	0	0	0	1	0	0	0	3346	1319	46	4	332	4	CHIT1	1	203186947	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2343795	203186947	46063674	23	884	21	2								
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agtcatctaagtccagtgccCagaccatggccccgcccagt					rs201320385|rs3831317|rs150192398	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		Atlas-SNP	.											CHIT1,colon,carcinoma,0,2	CHIT1	61	2	0			c.G1073A						PASS	.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	74	9	0.121622	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011	0.011	strong		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	4	1	0	0	0	0	0	1	0	0	3346	595	21	2	335	2	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	3	203186950	46063671	24	885	21	2								
TAF5L	27097	hgsc.bcm.edu	37	chr1	229730826	229730826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cttcatctccgtgcctgcatTatcatcctcatcatcctggg	6	15	5	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:229730826T>G	ENST00000366676.1	-	4	987	c.988A>C	c.(988-990)Aat>Cat	p.N330H	TAF5L_ENST00000258281.2_Missense_Mutation_p.N330H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	330					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGCCTGCATTATCATCCTCA	0.512																																					p.N330H		Atlas-SNP	.											.	TAF5L	76	.	0			c.A988C						PASS	.						73	69	70					1																	229730826		2202	4300	6502	SO:0001583	missense	27097	exon5			CTGCATTATCATC	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.988A>C	1.37:g.229730826T>G	ENSP00000355636:p.Asn330His	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_014409	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704776	0.30232	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.59638	0.25;0.25	5.8	-0.833	0.10782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.250220	0.04766	N	0.427222	T	0.47783	0.1464	L	0.40543	1.245	0.09310	N	1	B	0.20164	0.042	B	0.19946	0.027	T	0.39057	-0.9632	10	0.48119	T	0.1	-0.299	6.7515	0.23489	0.0:0.3607:0.1239:0.5154	.	330	O75529	TAF5L_HUMAN	H	330	ENSP00000355636:N330H;ENSP00000258281:N330H	ENSP00000258281:N330H	N	-	1	0	TAF5L	227797449	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.085000	0.14912	-0.150000	0.11195	-0.256000	0.11100	AAT	.	.	none		0.512	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		G	229730826	T	G	229730826	3	3	4	1	0	0	0	0	1	0	0	0	15526	1754	61	5	785	5	TAF5L	1	229730826	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	26543876	229730826	19519795	25	886										
LGALS8	3964	hgsc.bcm.edu	37	chr1	236703874	236703874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atctctctaggtggctgtaaAtggaaaacatactctgctct	8	9	4	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:236703874A>G	ENST00000366584.4	+	5	922	c.356A>G	c.(355-357)aAt>aGt	p.N119S	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.N119S|LGALS8_ENST00000323938.6_Missense_Mutation_p.N92S|LGALS8_ENST00000341872.6_Missense_Mutation_p.N119S|LGALS8_ENST00000526589.1_Missense_Mutation_p.N119S|LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.N119S|LGALS8_ENST00000352231.2_Missense_Mutation_p.N119S|LGALS8_ENST00000450372.2_Missense_Mutation_p.N119S|LGALS8_ENST00000416919.2_Intron	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	119	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTGGCTGTAAATGGAAAACAT	0.398																																					p.N119S		Atlas-SNP	.											.	LGALS8	42	.	0			c.A356G						PASS	.						98	107	104					1																	236703874		2203	4300	6503	SO:0001583	missense	3964	exon6			CTGTAAATGGAAA	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.356A>G	1.37:g.236703874A>G	ENSP00000355543:p.Asn119Ser	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	53	9	0.169811	NM_006499	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121846	0.77436	.	.	ENSG00000116977	ENST00000454943;ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000323938;ENST00000526634	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.046652	0.85682	D	0.000000	T	0.44265	0.1285	M	0.91663	3.23	0.80722	D	1	D;P	0.56746	0.977;0.67	P;B	0.49528	0.614;0.173	T	0.58618	-0.7605	10	0.62326	D	0.03	-8.8691	15.7119	0.77635	1.0:0.0:0.0:0.0	.	119;119	O00214;O00214-2	LEG8_HUMAN;.	S	119;119;119;119;119;119;119;119;119;92;119	ENSP00000405504:N119S;ENSP00000431398:N119S;ENSP00000309576:N119S;ENSP00000385999:N119S;ENSP00000435460:N119S;ENSP00000342139:N119S;ENSP00000408657:N119S;ENSP00000355543:N119S;ENSP00000434860:N92S;ENSP00000437040:N119S	ENSP00000434860:N92S	N	+	2	0	LGALS8	234770497	1.000000	0.71417	0.985000	0.45067	0.752000	0.42762	8.536000	0.90627	2.291000	0.77112	0.533000	0.62120	AAT	.	.	none		0.398	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		G	236703874	A	G	236703874	3	3	4	1	0	0	0	0	1	0	0	0	8747	101	4	2	370	2	LGALS8	1	236703874	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	6973048	236703874	12546747	26	887										
RGS7	6000	hgsc.bcm.edu	37	chr1	241032080	241032080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	actcacaaggactcactttgCttgtgcttctgcttgcatga	8	11	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:241032080C>T	ENST00000407727.1	-	7	522	c.523G>A	c.(523-525)Gca>Aca	p.A175T	RGS7_ENST00000401882.1_Missense_Mutation_p.A122T|RGS7_ENST00000331110.7_Missense_Mutation_p.A149T|RGS7_ENST00000366563.1_Missense_Mutation_p.A175T|RGS7_ENST00000446183.2_Missense_Mutation_p.A91T|RGS7_ENST00000366565.1_Missense_Mutation_p.A175T|RGS7_ENST00000366564.1_Missense_Mutation_p.A175T|RGS7_ENST00000366562.4_Missense_Mutation_p.A175T|RGS7_ENST00000348120.2_Missense_Mutation_p.A122T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	175					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACTCACTTTGCTTGTGCTTCT	0.443																																					p.A175T		Atlas-SNP	.											.	RGS7	308	.	0			c.G523A						PASS	.						168	169	168					1																	241032080		2203	4300	6503	SO:0001583	missense	6000	exon8			ACTTTGCTTGTGC	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.523G>A	1.37:g.241032080C>T	ENSP00000384428:p.Ala175Thr	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	88	14	0.159091	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.436438	0.83885	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.35605	1.47;1.47;1.48;1.46;1.3;1.47;1.47;1.48;1.46;1.47	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	L	0.42245	1.32	0.80722	D	1	B;P;P;P;P;P;P	0.44521	0.417;0.749;0.837;0.553;0.837;0.529;0.749	B;B;P;B;B;B;B	0.47134	0.146;0.338;0.539;0.373;0.356;0.205;0.194	T	0.10636	-1.0621	10	0.44086	T	0.13	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	91;149;122;175;175;175;175	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	T	149;175;175;175;6;122;91;175;175;122	ENSP00000331485:A149T;ENSP00000355523:A175T;ENSP00000355522:A175T;ENSP00000355521:A175T;ENSP00000404399:A6T;ENSP00000341242:A122T;ENSP00000390138:A91T;ENSP00000355520:A175T;ENSP00000384428:A175T;ENSP00000385508:A122T	ENSP00000331485:A149T	A	-	1	0	RGS7	239098703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.768000	0.95171	0.655000	0.94253	GCA	.	.	none		0.443	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		T	241032080	C	T	241032080	3	4	4	1	0	0	0	0	1	0	0	0	13310	797	28	2	984	2	RGS7	1	241032080	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	4328206	241032080	8218541	27	888										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525060	248525060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccaaacatccagcactacttTgtgtggtcatttttgtggtt	8	9	1	0	rs28491677	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr1:248525060T>A	ENST00000366475.1	+	1	178	c.178T>A	c.(178-180)Tgt>Agt	p.C60S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			AGCACTACTTTGTGTGGTCAT	0.488													t|||	1477	0.294928	0.2421	0.2709	5008	,	,		20455	0.4276		0.1809	False		,,,				2504	0.364				p.C60S		Atlas-SNP	.											OR2T4,NS,carcinoma,-1,1	OR2T4	126	1	0			c.T178A						scavenged	.						176	175	175					1																	248525060		2203	4300	6503	SO:0001583	missense	127074	exon1			CTACTTTGTGTGG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.178T>A	1.37:g.248525060T>A	ENSP00000355431:p.Cys60Ser	Somatic	351	4	0.011396		WXS	Illumina HiSeq	Phase_I	241	3	0.0124481	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	500	0.22893772893772893	101	0.20528455284552846	72	0.19889502762430938	210	0.36713286713286714	117	0.15435356200527706	t	9.676	1.147970	0.21288	.	.	ENSG00000196944	ENST00000366475	T	0.02944	4.1	3.48	2.33	0.28932	.	0.441217	0.19340	N	0.116665	T	0.00012	0.0000	N	0.00746	-1.225	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.41574	-0.9501	9	0.59425	D	0.04	.	8.6683	0.34134	0.1713:0.0:0.0:0.8287	rs28491677;rs58960769	60	Q8NH00	OR2T4_HUMAN	S	60	ENSP00000355431:C60S	ENSP00000355431:C60S	C	+	1	0	OR2T4	246591683	0.044000	0.20184	0.001000	0.08648	0.025000	0.11179	2.832000	0.48152	0.248000	0.21435	-0.510000	0.04470	TGT	T|0.787;A|0.213	0.213	strong		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525060	T	A	248525060	3	1	4	1	0	0	0	0	1	0	0	0	11027	1812	63	5	180	5	OR2T4	1	248525060	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	7492980	248525060	725561	28	889										
TAF1B	9014	hgsc.bcm.edu	37	chr2	10008516	10008516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cggagtctcagtctgacatcCacactcgaaaacctttcccc	6	16	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:10008516C>G	ENST00000263663.5	+	6	699	c.511C>G	c.(511-513)Cac>Gac	p.H171D	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	171	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGACATCCACACTCGAAA	0.428																																					p.H171D		Atlas-SNP	.											.	TAF1B	62	.	0			c.C511G						PASS	.						93	81	85					2																	10008516		2203	4300	6503	SO:0001583	missense	9014	exon6			GACATCCACACTC	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.511C>G	2.37:g.10008516C>G	ENSP00000263663:p.His171Asp	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	269	50	0.185874	NM_005680	B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	4.630	0.117174	0.08881	.	.	ENSG00000115750	ENST00000263663;ENST00000402170	T	0.02552	4.25	5.41	1.22	0.21188	.	2.518540	0.00906	N	0.002413	T	0.02571	0.0078	N	0.19112	0.55	0.19575	N	0.999964	B;B;B	0.14805	0.002;0.006;0.011	B;B;B	0.18871	0.007;0.007;0.023	T	0.44221	-0.9342	9	.	.	.	0.1658	4.2181	0.10544	0.4494:0.3528:0.0:0.1978	.	171;171;171	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	D	171	ENSP00000263663:H171D	.	H	+	1	0	TAF1B	9925967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.563000	0.23547	0.067000	0.16545	-0.150000	0.13652	CAC	.	.	none		0.428	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		G	10008516	C	G	10008516	3	3	4	1	0	0	0	0	1	0	0	0	15517	594	21	4	533	4	TAF1B	2	10008516	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		10008516	233190857	29	890										
KCNK3	3777	hgsc.bcm.edu	37	chr2	26951314	26951314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gagggggcggccgctacagcGacacgccctcgcgacgctgc	16	16	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:26951314G>A	ENST00000302909.3	+	2	1188	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	355					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CCGCTACAGCGACACGCCCTC	0.701																																					p.D355N	GBM(80;1457 1631 27100 45946)	Atlas-SNP	.											.	KCNK3	43	.	0			c.G1063A						PASS	.						11	11	11					2																	26951314		2174	4258	6432	SO:0001583	missense	3777	exon2			TACAGCGACACGC	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1063G>A	2.37:g.26951314G>A	ENSP00000306275:p.Asp355Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	44	9	0.204545	NM_002246	Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894703	0.52121	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.20069	2.1	5.22	4.31	0.51392	.	1.496640	0.03451	N	0.210632	T	0.15003	0.0362	L	0.29908	0.895	0.25099	N	0.990794	P	0.42993	0.797	B	0.30572	0.117	T	0.21724	-1.0237	10	0.52906	T	0.07	.	6.4844	0.22081	0.0913:0.0:0.7263:0.1824	.	355	O14649	KCNK3_HUMAN	N	232;355	ENSP00000306275:D355N	ENSP00000306275:D355N	D	+	1	0	KCNK3	26804818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.918000	0.40006	1.155000	0.42497	0.555000	0.69702	GAC	.	.	none		0.701	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		A	26951314	G	A	26951314	3	1	4	1	0	0	0	0	1	0	0	0	8067	1058	37	1	1069	1	KCNK3	2	26951314	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	16942798	26951314	216248059	30	891										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96810559	96810559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttgtcccctgttggcggcaGcgcaggggcgggggcctcag	18	12	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:96810559G>C	ENST00000288943.4	-	2	536	c.451C>G	c.(451-453)Ctg>Gtg	p.L151V	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	151					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GTTGGCGGCAGCGCAGGGGCG	0.662																																					p.L151V		Atlas-SNP	.											.	DUSP2	20	.	0			c.C451G						PASS	.						11	15	14					2																	96810559		2143	4243	6386	SO:0001583	missense	1844	exon2			GCGGCAGCGCAGG	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.451C>G	2.37:g.96810559G>C	ENSP00000288943:p.Leu151Val	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	60	10	0.166667	NM_004418	Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	g	9.396	1.076711	0.20227	.	.	ENSG00000158050	ENST00000288943	T	0.02763	4.17	4.3	-2.2	0.06994	.	0.606495	0.16301	N	0.220447	T	0.02380	0.0073	L	0.52126	1.63	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43015	-0.9417	10	0.27785	T	0.31	.	2.2955	0.04149	0.1178:0.1236:0.3826:0.376	.	151	Q05923	DUS2_HUMAN	V	151	ENSP00000288943:L151V	ENSP00000288943:L151V	L	-	1	2	DUSP2	96174286	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.849000	0.27723	-0.252000	0.09528	-0.532000	0.04303	CTG	.	.	none		0.662	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		C	96810559	G	C	96810559	3	2	4	1	0	0	0	0	1	0	0	0	4819	962	34	4	505	4	DUSP2	2	96810559	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	69859245	96810559	146388814	31	892										
CXCR4	7852	hgsc.bcm.edu	37	chr2	136872627	136872627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagacaacagtggaagaaagCtagggcctcggtgatggaaa	14	7	0	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:136872627C>T	ENST00000241393.3	-	2	975	c.871G>A	c.(871-873)Gct>Act	p.A291T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.A295T	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	291					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGGAAGAAAGCTAGGGCCTCG	0.507																																					p.A295T		Atlas-SNP	.											.	CXCR4	51	.	0			c.G883A						PASS	.						457	435	443					2																	136872627		2203	4300	6503	SO:0001583	missense	7852	exon1			AGAAAGCTAGGGC	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.871G>A	2.37:g.136872627C>T	ENSP00000241393:p.Ala291Thr	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	151	28	0.18543	NM_001008540	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744707	0.89663	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.39229	1.09;1.09	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.74668	-0.3588	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	291;295	P61073;P61073-2	CXCR4_HUMAN;.	T	295;291;161	ENSP00000386884:A295T;ENSP00000241393:A291T	ENSP00000241393:A291T	A	-	1	0	CXCR4	136589097	1.000000	0.71417	0.948000	0.38648	0.985000	0.73830	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCT	.	.	none		0.507	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			T	136872627	C	T	136872627	3	4	4	1	0	0	0	0	1	0	0	0	4093	797	28	2	191	2	CXCR4	2	136872627	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	40062068	136872627	106326746	32	893										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141819821	141819821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tccactttggcgacattcccGtagtcagtaaagaaaagttt	8	9	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:141819821G>A	ENST00000389484.3	-	8	2006	c.1035C>T	c.(1033-1035)taC>taT	p.Y345Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	345					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGACATTCCCGTAGTCAGTAA	0.448										TSP Lung(27;0.18)																											p.Y345Y	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.C1035T						PASS	.						92	85	87					2																	141819821		2203	4299	6502	SO:0001819	synonymous_variant	53353	exon8			ATTCCCGTAGTCA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1035C>T	2.37:g.141819821G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	56	13	0.232143	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.	.	none		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141819821	G	A	141819821	2	1	4	1	0	0	0	0	0	0	0	1	8955	1140	40	1		1	LRP1B	2	141819821	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	4947194	141819821	101379552	33	894										
NEB	4703	hgsc.bcm.edu	37	chr2	152486080	152486080	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ataacgtccctggaggccttGgcagccacgatggggatggc	15	11	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:152486080G>T	ENST00000172853.10	-	64	9222	c.9075C>A	c.(9073-9075)gcC>gcA	p.A3025A	NEB_ENST00000603639.1_Silent_p.A3268A|NEB_ENST00000397345.3_Silent_p.A3268A|NEB_ENST00000604864.1_Silent_p.A3268A|NEB_ENST00000427231.2_Silent_p.A3268A|NEB_ENST00000409198.1_Silent_p.A3025A			P20929	NEBU_HUMAN	nebulin	3025					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCCTTGGCAGCCACGA	0.438																																					p.A3268A		Atlas-SNP	.											.	NEB	1697	.	0			c.C9804A						PASS	.						154	153	153					2																	152486080		1944	4138	6082	SO:0001819	synonymous_variant	4703	exon68			GGCCTTGGCAGCC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9075C>A	2.37:g.152486080G>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	66	13	0.19697	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				.	.	none		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152486080	G	T	152486080	2	4	4	1	0	0	0	0	0	0	0	1	10302	1335	47	4		4	NEB	2	152486080	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	10666259	152486080	90713293	34	895										
ITGA4	3676	hgsc.bcm.edu	37	chr2	182322531	182322531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	taccagggcccccacaacacGctgttcggctactcggtcgt	10	16	0	0	rs546061211		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:182322531G>A	ENST00000397033.2	+	1	580	c.150G>A	c.(148-150)acG>acA	p.T50T	ITGA4_ENST00000339307.4_Silent_p.T50T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	50					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCCACAACACGCTGTTCGGCT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14794	0.0		0.0	False		,,,				2504	0.001				p.T50T		Atlas-SNP	.											ITGA4,colon,carcinoma,+1,1	ITGA4	142	1	0			c.G150A						PASS	.						25	31	29					2																	182322531		2104	4230	6334	SO:0001819	synonymous_variant	3676	exon1			CAACACGCTGTTC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.150G>A	2.37:g.182322531G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	70	12	0.171429	NM_000885	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																			.	.	none		0.647	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182322531	G	A	182322531	2	1	4	1	0	0	0	0	0	0	0	1	7878	1074	38	1		1	ITGA4	2	182322531	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	29836451	182322531	60876842	35	896										
CLK1	1195	hgsc.bcm.edu	37	chr2	201721689	201721689	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggctttaagtctgtgtgagtCaacttattactgtgcaaaac	9	7	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:201721689C>T	ENST00000321356.4	-	8	987	c.852G>A	c.(850-852)ttG>ttA	p.L284L	CLK1_ENST00000434813.2_Silent_p.L326L|CLK1_ENST00000409769.2_Silent_p.L107L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTGTGTGAGTCAACTTATTAC	0.378																																					p.L326L		Atlas-SNP	.											.	CLK1	103	.	0			c.G978A						PASS	.						85	86	86					2																	201721689		2203	4300	6503	SO:0001819	synonymous_variant	1195	exon8			GTGAGTCAACTTA	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.852G>A	2.37:g.201721689C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	56	16	0.285714	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	CCDS2331.1																																																																																			.	.	none		0.378	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			T	201721689	C	T	201721689	2	4	4	1	0	0	0	0	0	0	0	1	3536	825	29	2		2	CLK1	2	201721689	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	19399158	201721689	41477684	36	897										
SLC23A3	151295	hgsc.bcm.edu	37	chr2	220033469	220033469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgggagccagcaccaggggCccacagtgggggaacacgtg	17	12	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:220033469C>T	ENST00000409878.3	-	5	611	c.579G>A	c.(577-579)ggG>ggA	p.G193G	SLC23A3_ENST00000455516.2_Silent_p.G201G|SLC23A3_ENST00000295738.7_Silent_p.G193G|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	193					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCAGGGGCCCACAGTGGG	0.652																																					p.G201G		Atlas-SNP	.											.	SLC23A3	60	.	0			c.G603A						PASS	.						26	30	29					2																	220033469		1952	4138	6090	SO:0001819	synonymous_variant	151295	exon5			CAGGGGCCCACAG	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.579G>A	2.37:g.220033469C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	73	14	0.191781	NM_001144890	B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																			.	.	none		0.652	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		T	220033469	C	T	220033469	2	4	4	1	0	0	0	0	0	0	0	1	14464	726	26	2		2	SLC23A3	2	220033469	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	18311780	220033469	23165904	37	898										
IRS1	3667	hgsc.bcm.edu	37	chr2	227663446	227663446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aagccatcgctctccggaggGctcgccatgctgccaccgcc	11	18	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr2:227663446G>A	ENST00000305123.5	-	1	1029	c.9C>T	c.(7-9)agC>agT	p.S3S	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	3	Mediates interaction with PHIP. {ECO:0000250}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCTCCGGAGGGCTCGCCATGC	0.677																																					p.S3S		Atlas-SNP	.											.	IRS1	141	.	0			c.C9T						PASS	.						12	13	13					2																	227663446		2195	4291	6486	SO:0001819	synonymous_variant	3667	exon1			CGGAGGGCTCGCC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.9C>T	2.37:g.227663446G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	74	14	0.189189	NM_005544		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																			.	.	none		0.677	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227663446	G	A	227663446	2	1	4	1	0	0	0	0	0	0	0	1	7840	1194	42	2		2	IRS1	2	227663446	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	7629977	227663446	15535927	38	899										
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022446	32022446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gctgagcacgccctcgagcgCcggctccctcctgcggccgc	13	20	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:32022446C>T	ENST00000396556.2	-	1	348	c.226G>A	c.(226-228)Gcg>Acg	p.A76T	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A76T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	76	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCCTCGAGCGCCGGCTCCCTC	0.766																																					p.A76T		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G226A						PASS	.						14	15	15					3																	32022446		2192	4286	6478	SO:0001583	missense	114884	exon1			CGAGCGCCGGCTC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.226G>A	3.37:g.32022446C>T	ENSP00000379804:p.Ala76Thr	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	50	6	0.12	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825617	0.16749	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.22945	1.93;2.22	4.02	3.14	0.36123	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.820194	0.10442	N	0.674159	T	0.12475	0.0303	N	0.05351	-0.065	0.23577	N	0.997376	P;P	0.37914	0.611;0.611	B;B	0.40256	0.324;0.324	T	0.15694	-1.0428	10	0.09843	T	0.71	-11.5122	6.3054	0.21135	0.0:0.7736:0.0:0.2264	.	76;76	B4E212;Q9BXB5	.;OSB10_HUMAN	T	76	ENSP00000379804:A76T;ENSP00000406124:A76T	ENSP00000379804:A76T	A	-	1	0	OSBPL10	31997450	0.997000	0.39634	0.993000	0.49108	0.014000	0.08584	0.681000	0.25320	1.043000	0.40175	0.462000	0.41574	GCG	.	.	none		0.766	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	32022446	C	T	32022446	3	4	4	1	0	0	0	0	1	0	0	0	11275	739	26	2	2116	2	OSBPL10	3	32022446	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		32022446	165999984	39	900										
LRRFIP2	9209	hgsc.bcm.edu	37	chr3	37151161	37151161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aaccctgtcactcttatatgTtgccagagggtcactgtaca	8	11	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:37151161T>C	ENST00000336686.4	-	10	627	c.547A>G	c.(547-549)Aca>Gca	p.T183A	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.T183A			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	183	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCTTATATGTTGCCAGAGGG	0.368																																					p.T183A		Atlas-SNP	.											.	LRRFIP2	71	.	1	Whole gene deletion(1)	ovary(1)	c.A547G						PASS	.						109	112	111					3																	37151161		2203	4300	6503	SO:0001583	missense	9209	exon11			TATATGTTGCCAG	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.547A>G	3.37:g.37151161T>C	ENSP00000338727:p.Thr183Ala	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	218	42	0.192661	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905655	0.33628	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.46063	0.88;0.88	5.49	4.34	0.51931	.	0.352176	0.29884	N	0.010945	T	0.23766	0.0575	N	0.08118	0	0.33957	D	0.645154	B	0.23650	0.089	B	0.23852	0.049	T	0.24621	-1.0155	10	0.39692	T	0.17	2.162	11.145	0.48426	0.0:0.0723:0.0:0.9277	.	183	Q9Y608	LRRF2_HUMAN	A	183	ENSP00000392217:T183A;ENSP00000338727:T183A	ENSP00000338727:T183A	T	-	1	0	LRRFIP2	37126165	0.998000	0.40836	0.323000	0.25347	0.646000	0.38490	2.746000	0.47467	1.106000	0.41623	-0.256000	0.11100	ACA	.	.	none		0.368	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		C	37151161	T	C	37151161	3	2	4	1	0	0	0	0	1	0	0	0	9028	1725	60	2	1694	2	LRRFIP2	3	37151161	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	5128715	37151161	160871269	40	901										
LIMD1	8994	hgsc.bcm.edu	37	chr3	45636656	45636656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgttgggaagttgtgggcagCaagctgactgtggatggtgc	18	6	0	1	rs143647674		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:45636656C>T	ENST00000273317.4	+	1	306	c.285C>T	c.(283-285)agC>agT	p.S95S	LIMD1_ENST00000465039.1_Intron|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Silent_p.S95S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	95	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TTGTGGGCAGCAAGCTGACTG	0.677																																					p.S95S		Atlas-SNP	.											.	LIMD1	34	.	0			c.C285T						PASS	.						19	24	22					3																	45636656		2197	4292	6489	SO:0001819	synonymous_variant	8994	exon1			GGGCAGCAAGCTG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.285C>T	3.37:g.45636656C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	29	6	0.206897	NM_014240	Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	CCDS2729.1																																																																																			C|1.000;G|0.000	.	alt		0.677	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		T	45636656	C	T	45636656	2	4	4	1	0	0	0	0	0	0	0	1	8798	709	25	2		2	LIMD1	3	45636656	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	8485495	45636656	152385774	41	902										
MST1	327	hgsc.bcm.edu	37	chr3	49723881	49723881	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcccgcggaagcagctgacaGttgtggcctcttggcggggc	16	12	1	1	rs6777426	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:49723881G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000545762.1_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.T294S|MST1_ENST00000383728.3_Missense_Mutation_p.T219S|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.T280S(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTGACAGTTGTGGCCTC	0.652																																					p.T294S		Atlas-SNP	.											MST1,extremity,malignant_melanoma,0,1	MST1	84	1	1	Substitution - Missense(1)	skin(1)	c.C881G						scavenged	.						33	36	35					3																	49723881		2201	4298	6499	SO:0001628	intergenic_variant	4485	exon8			CTGACAGTTGTGG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723881G>C		Somatic	182	5	0.0274725		WXS	Illumina HiSeq	Phase_I	137	7	0.0510949	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417297	0.83449	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	D;T	0.87887	-2.31;-0.48	5.67	4.75	0.60458	Kringle (1);	0.339887	0.21177	N	0.078900	T	0.81545	0.4845	L	0.33137	0.985	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.77723	-0.2481	10	0.54805	T	0.06	.	14.5452	0.68024	0.0:0.0:0.8533:0.1467	rs6777426	280;294	P26927;G3XAK1	HGFL_HUMAN;.	S	294;219	ENSP00000414287:T294S;ENSP00000373234:T219S	ENSP00000373234:T219S	T	-	2	0	MST1	49698885	1.000000	0.71417	0.025000	0.17156	0.854000	0.48673	6.531000	0.73820	2.673000	0.90976	0.655000	0.94253	ACT	G|0.986;C|0.014	0.014	strong		0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49723881	G	C	49723881	1	2	4	0	1	0	0	0	0	0	0	0	9890	1029	36	4		4	MST1	3	49723881	IGR	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	4087225	49723881	148298549	42	903										
HEMK1	51409	hgsc.bcm.edu	37	chr3	50609175	50609175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccggcactttggacccagcCcttgacctctcagcaactac	8	17	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:50609175C>T	ENST00000232854.4	+	3	815	c.263C>T	c.(262-264)cCc>cTc	p.P88L	C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Missense_Mutation_p.P88L|HEMK1_ENST00000455834.1_Missense_Mutation_p.P88L	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	88					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGGACCCAGCCCTTGACCTCT	0.572											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P88L		Atlas-SNP	.											.	HEMK1	17	.	0			c.C263T						PASS	.						126	132	130					3																	50609175		2203	4300	6503	SO:0001583	missense	51409	exon3			CCCAGCCCTTGAC	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.263C>T	3.37:g.50609175C>T	ENSP00000232854:p.Pro88Leu	Somatic	98	0	0	971	WXS	Illumina HiSeq	Phase_I	74	21	0.283784	NM_016173		Missense_Mutation	SNP	ENST00000232854.4	37	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	c	11.65	1.703370	0.30232	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.14893	2.47;2.47;2.47	5.53	4.65	0.58169	.	0.139018	0.49916	D	0.000131	T	0.17066	0.0410	L	0.52266	1.64	0.40106	D	0.976427	B	0.18166	0.026	B	0.19391	0.025	T	0.03555	-1.1025	10	0.41790	T	0.15	-7.7147	10.4992	0.44796	0.0:0.9105:0.0:0.0895	.	88	Q9Y5R4	HEMK1_HUMAN	L	88	ENSP00000404843:P88L;ENSP00000232854:P88L;ENSP00000404334:P88L	ENSP00000232854:P88L	P	+	2	0	HEMK1	50584179	0.736000	0.28164	0.993000	0.49108	0.191000	0.23601	0.979000	0.29500	1.485000	0.48380	0.651000	0.88453	CCC	.	.	none		0.572	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		T	50609175	C	T	50609175	3	4	4	1	0	0	0	0	1	0	0	0	7051	623	22	2	269	2	HEMK1	3	50609175	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	885294	50609175	147413255	43	904										
CCDC66	285331	hgsc.bcm.edu	37	chr3	56650051	56650052	+	In_Frame_Ins	INS	-	-	CTT													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tacatatatgaattctacgaINScttctaagaaggatactggt					rs67797937|rs77152637|rs74463118	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:56650051_56650052insCTT	ENST00000394672.3	+	13	1883_1884	c.1813_1814insCTT	c.(1813-1815)act>aCTTct	p.606_607insS	CCDC66_ENST00000436465.2_In_Frame_Ins_p.606_607insS|CCDC66_ENST00000326595.7_In_Frame_Ins_p.572_573insS	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	606					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATTCTACGACTTCTAAGAAG	0.287																																					p.T605delinsTS		Pindel	.											.	CCDC66	145	.	0			c.1813_1814insCTT						PASS	.		,	3586,680		1520,546,67					,	1.9	0		dbSNP_130	92	3788,4448		872,2044,1202	no	coding,coding	CCDC66	NM_001141947.1,NM_001012506.4	,	2392,2590,1269	A1A1,A1R,RR		45.9932,15.94,41.0174	,	,		7374,5128				SO:0001652	inframe_insertion	285331	exon13			.	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1814_1816dupCTT	3.37:g.56650052_56650054dupCTT	ENSP00000378167:p.Ser606_Ser606dup	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	115	39	0.339	NM_001141947	B3KWL8|Q4VC34|Q8N949	In_Frame_Ins	INS	ENST00000394672.3	37	CCDS46852.1																																																																																			-|0.298;CTT|0.702	0.702	strong		0.287	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		CTT	56650052	-	CTT	56650051	7	5	4	1	0	1	1	0	0	0	0	0	2838	275	10	0	1863	0	CCDC66	3	56650051	In_Frame_Ins	INS	-	TCGA-FA-A6HN-01A-11D-A31X-10	6040876	56650051	141372379	44	905										
SYNPR	132204	hgsc.bcm.edu	37	chr3	63466620	63466620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagcatcgacatagcgtttgCctacccattcaggtagggaa	10	11	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:63466620C>T	ENST00000295894.5	+	2	506	c.137C>T	c.(136-138)gCc>gTc	p.A46V	SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000479198.1_Missense_Mutation_p.A46V|SYNPR_ENST00000478300.1_Missense_Mutation_p.A66V|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.A46V|SYNPR_ENST00000460711.1_Missense_Mutation_p.A57V	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)	p.A66V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		ATAGCGTTTGCCTACCCATTC	0.483																																					p.A66V	NSCLC(29;1052 1116 20025 32519)	Atlas-SNP	.											SYNPR,NS,carcinoma,+1,4	SYNPR	38	4	1	Substitution - Missense(1)	NS(1)	c.C197T						PASS	.						152	154	153					3																	63466620		1998	4164	6162	SO:0001583	missense	132204	exon3			CGTTTGCCTACCC	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.137C>T	3.37:g.63466620C>T	ENSP00000295894:p.Ala46Val	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	41	8	0.195122	NM_001130003	B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	37	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000995	0.74818	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000479198;ENST00000460711;ENST00000465156	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.04	5.04	0.67666	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.75264	2.295	0.80722	D	1	P;P;D	0.56521	0.939;0.856;0.976	P;P;P	0.53224	0.721;0.636;0.6	T	0.72347	-0.4321	10	0.31617	T	0.26	-21.964	17.382	0.87407	0.0:1.0:0.0:0.0	.	57;46;66	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	V	66;46;46;57;46	ENSP00000418994:A66V;ENSP00000295894:A46V;ENSP00000418929:A46V;ENSP00000418701:A57V;ENSP00000418123:A46V	ENSP00000295894:A46V	A	+	2	0	SYNPR	63441660	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	3.717000	0.54911	2.343000	0.79666	0.557000	0.71058	GCC	.	.	none		0.483	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			T	63466620	C	T	63466620	3	4	4	1	0	0	0	0	1	0	0	0	15456	739	26	2	235	2	SYNPR	3	63466620	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	6816569	63466620	134555810	45	906										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134670283	134670283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccaggtgtgcaatgtcttcgAgcccaaccagaacaattggc	10	12	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:134670283A>G	ENST00000398015.3	+	3	564	c.194A>G	c.(193-195)gAg>gGg	p.E65G	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	65	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AATGTCTTCGAGCCCAACCAG	0.552																																					p.E65G		Atlas-SNP	.											.	EPHB1	519	.	0			c.A194G						PASS	.						39	43	42					3																	134670283		2143	4268	6411	SO:0001583	missense	2047	exon3			TCTTCGAGCCCAA	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.194A>G	3.37:g.134670283A>G	ENSP00000381097:p.Glu65Gly	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	84	31	0.369048	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096720	0.56075	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	5.55	5.55	0.83447	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.55213	1.73	0.80722	D	1	B;B	0.18461	0.028;0.002	B;B	0.24541	0.054;0.003	T	0.12066	-1.0562	10	0.51188	T	0.08	.	10.1025	0.42513	0.9253:0.0:0.0747:0.0	.	65;65	B5A969;P54762	.;EPHB1_HUMAN	G	43;65;43;43	ENSP00000417435:E43G;ENSP00000381097:E65G;ENSP00000417216:E43G;ENSP00000418352:E43G	ENSP00000381097:E65G	E	+	2	0	EPHB1	136152973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.574000	0.82434	2.105000	0.64084	0.528000	0.53228	GAG	.	.	none		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		G	134670283	A	G	134670283	3	3	4	1	0	0	0	0	1	0	0	0	5174	304	11	3	204	3	EPHB1	3	134670283	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	71203663	134670283	63352147	46	907										
SMC4	10051	hgsc.bcm.edu	37	chr3	160130162	160130162	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aaaaggatgccttagaaggaGagaaaaacatagctatcgaa	10	5	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:160130162G>A	ENST00000357388.3	+	7	1352	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SMC4_ENST00000470240.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.E301K|SMC4_ENST00000469762.1_Missense_Mutation_p.E276K|SMC4_ENST00000344722.5_Missense_Mutation_p.E301K|SMC4_ENST00000360111.2_Missense_Mutation_p.E301K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	301					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)	p.E301K(1)		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)			CTTAGAAGGAGAGAAAAACAT	0.289																																					p.E301K		Atlas-SNP	.											SMC4,mouth,carcinoma,0,1	SMC4	135	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G901A						PASS	.						54	56	56					3																	160130162		2202	4292	6494	SO:0001583	missense	10051	exon6			GAAGGAGAGAAAA	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.901G>A	3.37:g.160130162G>A	ENSP00000349961:p.Glu301Lys	Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	312	118	0.378205	NM_005496	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413422	0.96072	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000344722	T;T;T;T;T;T	0.78003	-1.12;-1.14;-1.11;0.07;-1.14;-1.12	5.57	5.57	0.84162	RecF/RecN/SMC (1);	0.046370	0.85682	D	0.000000	T	0.77232	0.4100	N	0.20986	0.625	0.80722	D	1	P;D;P	0.56746	0.692;0.977;0.737	B;P;P	0.55011	0.295;0.766;0.524	T	0.74595	-0.3613	10	0.27082	T	0.32	-18.5462	19.1507	0.93487	0.0:0.0:1.0:0.0	.	301;276;301	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	K	301;301;301;276;301;301;301	ENSP00000349961:E301K;ENSP00000353225:E301K;ENSP00000417964:E276K;ENSP00000420121:E301K;ENSP00000420734:E301K;ENSP00000341382:E301K	ENSP00000341382:E301K	E	+	1	0	SMC4	161612856	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.247000	0.95444	2.628000	0.89032	0.585000	0.79938	GAG	.	.	none		0.289	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			A	160130162	G	A	160130162	3	1	4	1	0	0	0	0	1	0	0	0	14785	943	33	2	923	2	SMC4	3	160130162	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	25459879	160130162	37892268	47	908										
EIF2B5	8893	hgsc.bcm.edu	37	chr3	183855505	183855505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgtcctccgtgatgttgatGccaaggctttggtgcgctct	12	10	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:183855505G>T	ENST00000273783.3	+	3	540	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000444495.1_Missense_Mutation_p.A140S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	140					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGATGTTGATGCCAAGGCTTT	0.483																																					p.A140S		Atlas-SNP	.											.	EIF2B5	62	.	0			c.G418T						PASS	.						195	163	174					3																	183855505		2203	4300	6503	SO:0001583	missense	8893	exon3			GTTGATGCCAAGG	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.418G>T	3.37:g.183855505G>T	ENSP00000273783:p.Ala140Ser	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	88	25	0.284091	NM_003907	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	17.74	3.463615	0.63513	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.93763	-3.28;-3.28	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	L	0.38733	1.17	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91422	0.5159	10	0.14252	T	0.57	-19.8346	20.051	0.97627	0.0:0.0:1.0:0.0	.	140	Q13144	EI2BE_HUMAN	S	140	ENSP00000273783:A140S;ENSP00000409142:A140S	ENSP00000273783:A140S	A	+	1	0	EIF2B5	185338199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.740000	0.93945	0.650000	0.86243	GCC	.	.	none		0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183855505	G	T	183855505	3	4	4	1	0	0	0	0	1	0	0	0	5004	1319	46	4	428	4	EIF2B5	3	183855505	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	23725343	183855505	14166925	48	909										
EIF4A2	1974	hgsc.bcm.edu	37	chr3	186502355	186502355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	attttttctaacttacagagCaactggaatgagattgttga	8	5	1	3	rs371691662		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:186502355C>G	ENST00000323963.5	+	3	142	c.78C>G	c.(76-78)agC>agG	p.S26R	RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S27R|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	26					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACTTACAGAGCAACTGGAATG	0.398			T	BCL6	NHL																																p.S26R		Atlas-SNP	.		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	.	EIF4A2	55	.	0			c.C78G						PASS	.						184	188	187					3																	186502355		2203	4300	6503	SO:0001583	missense	1974	exon3			ACAGAGCAACTGG	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.78C>G	3.37:g.186502355C>G	ENSP00000326381:p.Ser26Arg	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	109	21	0.192661	NM_001967	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656454	0.67586	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.32753	1.44;1.64;1.65	4.16	3.29	0.37713	.	0.043514	0.85682	D	0.000000	T	0.37237	0.0996	M	0.82517	2.595	0.80722	D	1	B;B	0.15473	0.013;0.005	B;B	0.19391	0.012;0.025	T	0.42666	-0.9438	10	0.87932	D	0	-14.8241	10.5715	0.45202	0.0:0.9034:0.0:0.0966	.	27;26	Q14240-2;Q14240	.;IF4A2_HUMAN	R	26;26;26;27	ENSP00000415878:S26R;ENSP00000326381:S26R;ENSP00000398370:S27R	ENSP00000326381:S26R	S	+	3	2	EIF4A2	187985049	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.929000	0.48916	1.345000	0.45676	0.585000	0.79938	AGC	.	.	alt		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		G	186502355	C	G	186502355	3	3	4	1	0	0	0	0	1	0	0	0	5025	709	25	4	88	4	EIF4A2	3	186502355	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2646850	186502355	11520075	49	910										
EIF4A2	1974	hgsc.bcm.edu	37	chr3	186502430	186502430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cttcgtggcatctatgcttaCggttttgagaagccttccgc	10	11	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:186502430C>T	ENST00000323963.5	+	3	217	c.153C>T	c.(151-153)taC>taT	p.Y51Y	SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.T3M|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.Y52Y|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	51					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCTATGCTTACGGTTTTGAGA	0.358			T	BCL6	NHL																																p.Y51Y		Atlas-SNP	.		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	.	EIF4A2	55	.	0			c.C153T						PASS	.						124	130	128					3																	186502430		2203	4300	6503	SO:0001819	synonymous_variant	1974	exon3			TGCTTACGGTTTT	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.153C>T	3.37:g.186502430C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	95	20	0.210526	NM_001967	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211860	0.39102	.	.	ENSG00000156976	ENST00000356531	T	0.34275	1.37	4.6	-3.99	0.04069	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.24291	N	0.99516	B	0.06786	0.001	B	0.01281	0.0	T	0.34527	-0.9825	8	0.87932	D	0	-2.7687	7.1768	0.25749	0.0:0.4534:0.1318:0.4148	.	3	Q9NZE6	.	M	3	ENSP00000348925:T3M	ENSP00000348925:T3M	T	+	2	0	EIF4A2	187985124	0.974000	0.33945	0.990000	0.47175	0.994000	0.84299	0.071000	0.14594	-0.466000	0.06943	-0.237000	0.12165	ACG	.	.	none		0.358	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		T	186502430	C	T	186502430	2	4	4	1	0	0	0	0	0	0	0	1	5025	547	19	1		1	EIF4A2	3	186502430	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	75	186502430	11520000	50	911										
RPL35A	6165	hgsc.bcm.edu	37	chr3	197678057	197678057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tccaaggccatttttgctggCtataagcggggtctccggaa	12	10	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr3:197678057C>T	ENST00000464167.1	+	3	306	c.39C>T	c.(37-39)ggC>ggT	p.G13G	IQCG_ENST00000453254.1_5'Flank|RPL35A_ENST00000448864.1_Silent_p.G13G|RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000455191.1_5'Flank|IQCG_ENST00000480302.1_Intron|IQCG_ENST00000265239.6_Intron	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	ribosomal protein L35a	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|tRNA binding (GO:0000049)			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		TTTTTGCTGGCTATAAGCGGG	0.443																																					p.G13G		Atlas-SNP	.											.	RPL35A	9	.	0			c.C39T						PASS	.						73	74	73					3																	197678057		2202	4298	6500	SO:0001819	synonymous_variant	6165	exon3			TGCTGGCTATAAG	X52966	CCDS33930.1	3q29	2011-04-06			ENSG00000182899	ENSG00000182899		"L ribosomal proteins"	10345	protein-coding gene	gene with protein product		180468				1577483, 8786106	Standard	NM_000996		Approved	L35A	uc003fyr.3	P18077	OTTHUMG00000155386	ENST00000464167.1:c.39C>T	3.37:g.197678057C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	70	15	0.214286	NM_000996	Q08ES9|Q9BVN7	Silent	SNP	ENST00000464167.1	37	CCDS33930.1																																																																																			.	.	none		0.443	RPL35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339788.1	NM_000996		T	197678057	C	T	197678057	2	4	4	1	0	0	0	0	0	0	0	1	13585	784	28	2		2	RPL35A	3	197678057	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	11175627	197678057	344373	51	912										
NAT8L	339983	hgsc.bcm.edu	37	chr4	2062888	2062888	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagtactacatgaagccgccCggtgagtcccgctcccgccg	11	17	0	2	rs376253416		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:2062888C>T	ENST00000423729.2	+	2	540	c.540C>T	c.(538-540)ccC>ccT	p.P180P	NAT8L_ENST00000331662.3_Splice_Site_p.P12P	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	180	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGAAGCCGCCCGGTGAGTCCC	0.706																																					p.P180P		Atlas-SNP	.											.	NAT8L	23	.	0			c.C540T						PASS	.	C		0,4366		0,0,2183	23	23	23		540	-8.1	0.1	4		23	1,8573		0,1,4286	no	coding-synonymous-near-splice	NAT8L	NM_178557.3		0,1,6469	TT,TC,CC		0.0117,0.0,0.0077		180/303	2062888	1,12939	2183	4287	6470	SO:0001630	splice_region_variant	339983	exon2			GCCGCCCGGTGAG	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.541+1C>T	4.37:g.2062888C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	115	19	0.165217	NM_178557		Silent	SNP	ENST00000423729.2	37	CCDS3359.2																																																																																			.	.	weak		0.706	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557	Silent	T	2062888	C	T	2062888	5	4	4	1	0	0	0	0	0	0	1	0	10181	666	23	1	546	1	NAT8L	4	2062888	Splice_Site	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		2062888	189091388	52	913										
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228479	4228479	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggggggccggggattccgggGacctcggggccgaggacgag	23	10	0	0	rs199890951		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:4228479G>C	ENST00000296358.4	-	1	137	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	38					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ggATTCCGGGGACCTCGGGGC	0.746																																					p.S38C		Atlas-SNP	.											OTOP1,NS,carcinoma,0,1	OTOP1	118	1	0			c.C113G						scavenged	.						3	3	3					4																	4228479		1773	3481	5254	SO:0001583	missense	133060	exon1			TCCGGGGACCTCG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.113C>G	4.37:g.4228479G>C	ENSP00000296358:p.Ser38Cys	Somatic	30	1	0.0333333		WXS	Illumina HiSeq	Phase_I	33	4	0.121212	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	7.656	0.683978	0.14907	.	.	ENSG00000163982	ENST00000296358	T	0.08896	3.04	2.01	0.00709	0.14069	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.31390	0.129	T	0.44559	-0.9320	9	0.49607	T	0.09	-0.0197	7.5462	0.27768	0.0:0.5332:0.4668:0.0	.	38	Q7RTM1	OTOP1_HUMAN	C	38	ENSP00000296358:S38C	ENSP00000296358:S38C	S	-	2	0	OTOP1	4279380	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.411000	0.21115	-0.016000	0.14127	-0.472000	0.04984	TCC	.	.	weak		0.746	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228479	G	C	4228479	3	2	4	1	0	0	0	0	1	0	0	0	11305	1174	41	4	1749	4	OTOP1	4	4228479	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2165591	4228479	186925797	53	914										
HNRNPD	3184	hgsc.bcm.edu	37	chr4	83294756	83294756	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgccaccatggctccctcctGctcgcccgccgagccgccta	9	22	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:83294756G>A	ENST00000313899.7	-	1	353	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.Q26*|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.Q26*|RP11-127B20.3_ENST00000609575.1_RNA|HNRNPD_ENST00000543098.1_Intron|RP11-127B20.3_ENST00000609552.1_RNA|HNRNPD_ENST00000541060.1_5'UTR	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	26	Ala-rich.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						gctccctcctgctcgcccgcc	0.771																																					p.Q26X		Atlas-SNP	.											.	HNRNPD	23	.	0			c.C76T						PASS	.						2	2	2					4																	83294756		1399	2648	4047	SO:0001587	stop_gained	3184	exon1			CCTCCTGCTCGCC	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.76C>T	4.37:g.83294756G>A	ENSP00000313199:p.Gln26*	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	23	6	0.26087	NM_031370	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	G	40	8.250992	0.98727	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000307213;ENST00000507010;ENST00000503822	.	.	.	3.59	3.59	0.41128	.	0.717750	0.12547	N	0.459378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	12.5691	0.56326	0.0:0.0:1.0:0.0	.	.	.	.	X	26;26;26;23;26;26	.	ENSP00000307544:Q23X	Q	-	1	0	HNRNPD	83513780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.805000	0.55575	2.009000	0.58944	0.430000	0.28490	CAG	.	.	none		0.771	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		A	83294756	G	A	83294756	4	1	4	1	0	0	0	0	0	1	0	0	7264	1328	46	2	1023	2	HNRNPD	4	83294756	Nonsense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	79066277	83294756	107859520	54	915										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga	13	6	0	4	rs367717407|rs373805744	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	DSPP_ENST00000399271.1_Silent_p.S1088S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.T3264C						scavenged	.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	18	7	0.388889		WXS	Illumina HiSeq	Phase_I	41	28	0.682927	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537078	T	C	88537078	2	2	4	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88537078	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	5242322	88537078	102617198	55	916										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537205	88537213	+	In_Frame_Del	DEL	GACAGCAGT	GACAGCAGT	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgacagcagtgacagcagcGacagcagtgatagcagtgac					rs143067236|rs151217478|rs551655835	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	GACAGCAGT	GACAGCAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:88537205_88537213delGACAGCAGT	ENST00000282478.7	+	4	3424_3432	c.3391_3399delGACAGCAGT	c.(3391-3399)gacagcagtdel	p.DSS1137del	DSPP_ENST00000399271.1_In_Frame_Del_p.DSS1137del|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1137	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgacagcagtgatagcagtg	0.569																																					p.1130_1133del		Atlas-Indel	.											.	DSPP	174	.	0			c.3390_3398del						PASS	.			357,1999		74,209,895						-1.1	0			19	1005,3537		137,731,1403	no	coding	DSPP	NM_014208.3		211,940,2298	A1A1,A1R,RR		22.1268,15.1528,19.7449				1362,5536				SO:0001651	inframe_deletion	1834	exon5			.	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3391_3399delGACAGCAGT	4.37:g.88537205_88537213delGACAGCAGT	ENSP00000282478:p.Asp1137_Ser1139del	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	77	0.885057	NM_014208	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	none		0.569	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537213	GACAGCAGT	-	88537205	7	5	4	1	0	1	0	1	0	0	0	0	4782	1058	37	0	3405	0	DSPP	4	88537205	In_Frame_Del	DEL	GACAGCAGT	TCGA-FA-A6HN-01A-11D-A31X-10	127	88537205	102617071	56	917										
ANK2	287	hgsc.bcm.edu	37	chr4	114290944	114290944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cctgtgaaagactcgatgaaGatgcagcttttgaaaaggta	11	6	0	5			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:114290944G>A	ENST00000357077.4	+	43	11646	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N	ANK2_ENST00000506722.1_Missense_Mutation_p.D1771N|ANK2_ENST00000394537.3_Missense_Mutation_p.D1780N|ANK2_ENST00000510275.2_Missense_Mutation_p.D432N|ANK2_ENST00000509550.1_Missense_Mutation_p.D956N|ANK2_ENST00000264366.6_Missense_Mutation_p.D3832N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3865					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCGATGAAGATGCAGCTTT	0.468																																					p.D3865N		Atlas-SNP	.											.	ANK2	576	.	0			c.G11593A						PASS	.						91	83	86					4																	114290944		2203	4300	6503	SO:0001583	missense	287	exon43			GATGAAGATGCAG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11593G>A	4.37:g.114290944G>A	ENSP00000349588:p.Asp3865Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	84	15	0.178571	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.114027|3.114027	0.56398|0.56398	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960	T;T;T;T;T;D;D|.	0.96300|.	-0.27;-0.25;-0.32;-0.33;-1.04;-2.0;-3.97|.	5.63|5.63	4.79|4.79	0.61399|0.61399	.|.	0.328121|.	0.25631|.	N|.	0.029352|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.54323|0.54323	1.7|1.7	0.25795|0.25795	N|N	0.984572|0.984572	B;B;B;B;P;B|.	0.48503|.	0.321;0.01;0.094;0.0;0.911;0.016|.	B;B;B;B;P;B|.	0.52646|.	0.101;0.01;0.054;0.001;0.705;0.04|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.44086|.	T|.	0.13|.	.|.	15.041|15.041	0.71791|0.71791	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	956;815;781;1780;3865;1771|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	N|K	1771;815;1780;3865;3832;1771;956;432;875|781	ENSP00000421067:D1771N;ENSP00000378044:D1780N;ENSP00000349588:D3865N;ENSP00000264366:D3832N;ENSP00000426944:D956N;ENSP00000421023:D432N;ENSP00000422498:D875N|.	ENSP00000264366:D3832N|.	D|R	+|+	1|2	0|0	ANK2|ANK2	114510393|114510393	1.000000|1.000000	0.71417|0.71417	0.042000|0.042000	0.18584|0.18584	0.149000|0.149000	0.21700|0.21700	4.966000|4.966000	0.63715|0.63715	1.517000|1.517000	0.48917|0.48917	-0.157000|-0.157000	0.13467|0.13467	GAT|AGA	.	.	none		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114290944	G	A	114290944	3	1	4	1	0	0	0	0	1	0	0	0	621	942	33	2	11828	2	ANK2	4	114290944	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	25753739	114290944	76863332	57	918										
SMARCA5	8467	hgsc.bcm.edu	37	chr4	144467950	144467950	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gatttaccaattggaataagAgagattttaaccagtttatc	7	5	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:144467950A>C	ENST00000283131.3	+	20	3004	c.2542A>C	c.(2542-2544)Aga>Cga	p.R848R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	848	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTGGAATAAGAGAGATTTTAA	0.333																																					p.R848R		Atlas-SNP	.											SMARCA5,rectum,carcinoma,-1,1	SMARCA5	73	1	0			c.A2542C						PASS	.						82	85	84					4																	144467950		2203	4299	6502	SO:0001819	synonymous_variant	8467	exon20			AATAAGAGAGATT	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2542A>C	4.37:g.144467950A>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	101	27	0.267327	NM_003601		Silent	SNP	ENST00000283131.3	37	CCDS3761.1																																																																																			.	.	none		0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			C	144467950	A	C	144467950	2	2	4	1	0	0	0	0	0	0	0	1	14771	296	11	5		5	SMARCA5	4	144467950	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	30177006	144467950	46686326	58	919										
PRMT10	90826	hgsc.bcm.edu	37	chr4	148594981	148594981	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgaaatcagggtttagcttcActgctttatgaaaataccca	7	8	2	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:148594981A>C	ENST00000322396.6	-	3	625	c.383T>G	c.(382-384)gTg>gGg	p.V128G	PRMT10_ENST00000541232.1_Missense_Mutation_p.V15G	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		128						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GTTTAGCTTCACTGCTTTATG	0.383																																					p.V128G		Atlas-SNP	.											.	PRMT10	68	.	0			c.T383G						PASS	.						81	81	81					4																	148594981		2203	4300	6503	SO:0001583	missense	90826	exon3			AGCTTCACTGCTT																												ENST00000322396.6:c.383T>G	4.37:g.148594981A>C	ENSP00000314396:p.Val128Gly	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	108	21	0.194444	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425487	0.83667	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	D;T	0.89123	-2.47;1.7	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.064517	0.64402	D	0.000007	D	0.89322	0.6682	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	D	0.90662	0.4591	10	0.54805	T	0.06	.	15.3765	0.74610	1.0:0.0:0.0:0.0	.	128	Q6P2P2	ANM10_HUMAN	G	128;15	ENSP00000314396:V128G;ENSP00000439508:V15G	ENSP00000314396:V128G	V	-	2	0	PRMT10	148814431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.948000	0.93006	2.045000	0.60652	0.533000	0.62120	GTG	.	.	none		0.383	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			C	148594981	A	C	148594981	3	2	4	1	0	0	0	0	1	0	0	0	12536	159	6	5	2194	5	PRMT10	4	148594981	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	4127031	148594981	42559295	59	920										
FRG1	2483	hgsc.bcm.edu	37	chr4	190883051	190883051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	taaaattcttaaaaaggctcGgaaagatggatttttgcatg	9	4	1	1	rs1803593		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAAGGCTCGGAAAGATGGA	0.328																																					p.R235Q		Atlas-SNP	.											FRG1,NS,carcinoid-endocrine_tumour,0,1	FRG1	76	1	0			c.G704A						scavenged	.						81	99	93					4																	190883051		2158	4213	6371	SO:0001583	missense	2483	exon8			AGGCTCGGAAAGA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln	Somatic	393	39	0.0992366		WXS	Illumina HiSeq	Phase_I	320	46	0.14375	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG	G|1.000;|0.000	.	weak		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883051	G	A	190883051	3	1	4	1	0	0	0	0	1	0	0	0	6046	1116	39	1	734	1	FRG1	4	190883051	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	42288070	190883051	271225	60	921										
PDE4D	5144	hgsc.bcm.edu	37	chr5	58334737	58334737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctggtctgtagggtctctagCtggtccagacaccagtccag	12	12	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:58334737C>T	ENST00000340635.6	-	6	1045	c.870G>A	c.(868-870)caG>caA	p.Q290Q	PDE4D_ENST00000503258.1_Silent_p.Q160Q|PDE4D_ENST00000502484.2_Silent_p.Q229Q|PDE4D_ENST00000358923.6_5'UTR|PDE4D_ENST00000360047.5_Silent_p.Q154Q|PDE4D_ENST00000546160.1_Silent_p.Q229Q|RP11-266N13.2_ENST00000500224.2_RNA|PDE4D_ENST00000405755.2_Silent_p.Q168Q|PDE4D_ENST00000507116.1_Silent_p.Q226Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	290					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGGTCTCTAGCTGGTCCAGAC	0.602																																					p.Q290Q		Atlas-SNP	.											.	PDE4D	345	.	0			c.G870A						PASS	.						48	54	52					5																	58334737		2043	4208	6251	SO:0001819	synonymous_variant	5144	exon6			CTCTAGCTGGTCC		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.870G>A	5.37:g.58334737C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	72	13	0.180556	NM_001104631	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	CCDS47213.1																																																																																			.	.	none		0.602	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			T	58334737	C	T	58334737	2	4	4	1	0	0	0	0	0	0	0	1	11642	796	28	2		2	PDE4D	5	58334737	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		58334737	122580523	61	922										
NLN	57486	hgsc.bcm.edu	37	chr5	65054569	65054569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcagaccaaacaggtgtacGatgctgttggaatgctcggt	13	8	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:65054569G>T	ENST00000380985.5	+	2	395	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	73						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ACAGGTGTACGATGCTGTTGG	0.438																																					p.D73Y		Atlas-SNP	.											NLN,NS,carcinoma,0,1	NLN	51	1	0			c.G217T						scavenged	.						131	116	121					5																	65054569		2203	4300	6503	SO:0001583	missense	57486	exon2			GTGTACGATGCTG	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.217G>T	5.37:g.65054569G>T	ENSP00000370372:p.Asp73Tyr	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	135	3	0.0222222	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426060	0.83667	.	.	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.09817	2.94	5.5	5.5	0.81552	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.099798	0.64402	D	0.000003	T	0.38108	0.1028	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.29852	-0.9998	10	0.87932	D	0	-22.1236	13.6664	0.62398	0.0736:0.0:0.9264:0.0	.	73;73	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	Y	73	ENSP00000370372:D73Y	ENSP00000339283:D73Y	D	+	1	0	NLN	65090325	1.000000	0.71417	0.933000	0.37362	0.969000	0.65631	7.388000	0.79795	2.599000	0.87857	0.655000	0.94253	GAT	.	.	none		0.438	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			T	65054569	G	T	65054569	3	4	4	1	0	0	0	0	1	0	0	0	10467	1058	37	4	223	4	NLN	5	65054569	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	6719832	65054569	115860691	62	923										
CAST	831	hgsc.bcm.edu	37	chr5	96076487	96076487	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gggcctcctgcagactcttcGgtgagtttacatacatgtct	10	11	2	2	rs7724759	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:96076487G>A	ENST00000341926.3	+	11	831	c.669G>A	c.(667-669)tcG>tcA	p.S223S	CAST_ENST00000515663.1_5'Flank|CAST_ENST00000359176.4_Splice_Site_p.S287S|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000509903.1_Intron|CAST_ENST00000508579.1_5'Flank|CAST_ENST00000325674.7_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000395812.2_Splice_Site_p.S265S|CAST_ENST00000395813.1_Splice_Site_p.S306S|CAST_ENST00000511049.1_Splice_Site_p.S209S|CAST_ENST00000348386.3_Intron|CAST_ENST00000309190.5_Splice_Site_p.S201S|CAST_ENST00000510756.1_Splice_Site_p.S284S|CAST_ENST00000508608.1_Splice_Site_p.S269S|CAST_ENST00000511782.1_Splice_Site_p.S209S|CAST_ENST00000504465.1_Splice_Site_p.S151S|CAST_ENST00000508830.1_Splice_Site_p.S306S			P20810	ICAL_HUMAN	calpastatin	223					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CAGACTCTTCGGTGAGTTTAC	0.353													G|||	876	0.17492	0.0688	0.2248	5008	,	,		18456	0.0942		0.338	False		,,,				2504	0.1984				p.S265S		Atlas-SNP	.											CAST,NS,carcinoma,+1,2	CAST	58	2	0			c.G795A						scavenged	.	G	,,	518,3888	228.8+/-243.5	36,446,1721	75	81	79		795,,603	3	0.6	5	dbSNP_116	79	2695,5905	429.8+/-356.3	434,1827,2039	yes	coding-synonymous-near-splice,intron,coding-synonymous-near-splice	CAST	NM_001042440.2,NM_001190442.1,NM_173060.3	,,	470,2273,3760	AA,AG,GG		31.3372,11.7567,24.704	,,	265/751,,201/687	96076487	3213,9793	2203	4300	6503	SO:0001630	splice_region_variant	831	exon11			CTCTTCGGTGAGT	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.669+1G>A	5.37:g.96076487G>A		Somatic	361	1	0.00277008		WXS	Illumina HiSeq	Phase_I	293	5	0.0170648	NM_001042440	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent	SNP	ENST00000341926.3	37		440	0.20146520146520147	37	0.07520325203252033	88	0.2430939226519337	67	0.11713286713286714	248	0.32717678100263853	G	6.389	0.439934	0.12104	0.117567	0.313372	ENSG00000153113	ENST00000512620	.	.	.	4.86	2.98	0.34508	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999942473	.	.	.	.	.	.	T	0.29336	-1.0015	3	.	.	.	11.5549	9.9911	0.41872	0.0:0.0:0.6167:0.3833	rs7724759;rs17401060;rs7724759	.	.	.	Q	240	.	.	R	+	2	0	CAST	96102243	0.878000	0.30173	0.650000	0.29550	0.214000	0.24535	1.071000	0.30666	0.689000	0.31550	-0.188000	0.12872	CGA	G|0.780;A|0.220	0.220	strong		0.353	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	Silent	A	96076487	G	A	96076487	5	1	4	1	0	0	0	0	0	0	1	0	2684	1130	39	1	968	1	CAST	5	96076487	Splice_Site	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	31021918	96076487	84838773	63	924										
RGMB	285704	hgsc.bcm.edu	37	chr5	98115299	98115299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cataggtgactgccaacagcCagcccaatgtcgaatccaga	9	13	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:98115299C>T	ENST00000513185.1	+	2	588	c.152C>T	c.(151-153)cCa>cTa	p.P51L	RGMB_ENST00000308234.7_Missense_Mutation_p.P92L|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	51					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCAACAGCCAGCCCAATGT	0.463																																					p.P92L		Atlas-SNP	.											RGMB,NS,carcinoma,-1,1	RGMB	29	1	0			c.C275T						scavenged	.						177	177	177					5																	98115299		1993	4158	6151	SO:0001583	missense	285704	exon4			AACAGCCAGCCCA	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.152C>T	5.37:g.98115299C>T	ENSP00000423256:p.Pro51Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_001012761	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508325	0.44660	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.92752	-3.1;-3.09	5.31	5.31	0.75309	Repulsive guidance molecule, N-terminal (1);	0.320769	0.34932	N	0.003571	D	0.86083	0.5848	N	0.25647	0.755	0.40811	D	0.98342	B	0.32653	0.379	B	0.37091	0.241	T	0.82238	-0.0556	10	0.11485	T	0.65	-3.1104	12.5045	0.55973	0.2783:0.7217:0.0:0.0	.	51	Q6NW40	RGMB_HUMAN	L	92;51	ENSP00000308219:P92L;ENSP00000423256:P51L	ENSP00000308219:P92L	P	+	2	0	RGMB	98143199	0.710000	0.27896	0.957000	0.39632	0.951000	0.60555	1.271000	0.33098	2.650000	0.89964	0.563000	0.77884	CCA	.	.	none		0.463	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		T	98115299	C	T	98115299	3	4	4	1	0	0	0	0	1	0	0	0	13281	594	21	2	285	2	RGMB	5	98115299	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2038812	98115299	82799961	64	925										
ZNF474	133923	hgsc.bcm.edu	37	chr5	121488255	121488255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cacagaagctgcaagccaaaGggtgagggtcccagagcacc	13	12	0	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:121488255G>T	ENST00000296600.4	+	2	953	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	190							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCAAGCCAAAGGGTGAGGGTC	0.522																																					p.K190N		Atlas-SNP	.											.	ZNF474	43	.	0			c.G570T						PASS	.						89	85	86					5																	121488255		2203	4300	6503	SO:0001583	missense	133923	exon2			GCCAAAGGGTGAG	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.570G>T	5.37:g.121488255G>T	ENSP00000296600:p.Lys190Asn	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	70	17	0.242857	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452915	0.12283	.	.	ENSG00000164185	ENST00000296600	T	0.51574	0.7	5.26	3.44	0.39384	Zinc finger, C2H2 (1);	0.638340	0.13037	N	0.418838	T	0.33381	0.0861	L	0.32530	0.975	0.25703	N	0.985565	B	0.10296	0.003	B	0.12837	0.008	T	0.15235	-1.0444	10	0.31617	T	0.26	-6.7594	6.1089	0.20090	0.0771:0.1358:0.6472:0.14	.	190	Q6S9Z5	ZN474_HUMAN	N	190	ENSP00000296600:K190N	ENSP00000296600:K190N	K	+	3	2	ZNF474	121516154	1.000000	0.71417	0.857000	0.33713	0.123000	0.20343	1.969000	0.40510	1.372000	0.46190	-0.122000	0.15005	AAG	.	.	none		0.522	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		T	121488255	G	T	121488255	3	4	4	1	0	0	0	0	1	0	0	0	17929	991	35	4	572	4	ZNF474	5	121488255	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	23372956	121488255	59427005	65	926										
PCDHA9	9752	hgsc.bcm.edu	37	chr5	140229745	140229745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgacgctgcaggtgttcgtGctggacgagaacgacaatgc	15	9	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:140229745G>A	ENST00000532602.1	+	1	2698	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.V555V	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTTCGTGCTGGACGAGA	0.692																																					p.V555V	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHA9	373	.	0			c.G1665A						PASS	.						63	68	66					5																	140229745		2196	4270	6466	SO:0001819	synonymous_variant	9752	exon1			GTTCGTGCTGGAC	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1665G>A	5.37:g.140229745G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	92	15	0.163043	NM_031857	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																			.	.	none		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140229745	G	A	140229745	2	1	4	1	0	0	0	0	0	0	0	1	11531	1306	46	2		2	PCDHA9	5	140229745	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	18741490	140229745	40685515	66	927										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140476411	140476411	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgctgctcccggaggcggcAccggcccaggcccaggccga	15	18	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687																																					p.A679A		Atlas-SNP	.											PCDHB2,NS,carcinoma,0,1	PCDHB2	163	1	1	Substitution - coding silent(1)	lung(1)	c.A2037C						scavenged	.						65	67	66					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133	exon1			GGCGGCACCGGCC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	5.37:g.140476411A>C		Somatic	76	3	0.0394737		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			.	.	none		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476411	A	C	140476411	2	2	4	1	0	0	0	0	0	0	0	1	11542	146	6	5		5	PCDHB2	5	140476411	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	246666	140476411	40438849	67	928										
PCDHGA12	26025	hgsc.bcm.edu	37	chr5	140810511	140810511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccccgggagctcgcggagcGcggagtccgcatcatcccca	14	17	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:140810511G>A	ENST00000252085.3	+	1	327	c.185G>A	c.(184-186)cGc>cAc	p.R62H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCGGAGCGCGGAGTCCGC	0.652																																					p.R62H		Atlas-SNP	.											PCDHGA12_ENST00000252085,NS,carcinoma,+1,4	PCDHGA12	271	4	0			c.G185A						PASS	.						58	72	67					5																	140810511		2202	4300	6502	SO:0001583	missense	26025	exon1			CGGAGCGCGGAGT	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.185G>A	5.37:g.140810511G>A	ENSP00000252085:p.Arg62His	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	12	0.117647	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.395216	0.25205	.	.	ENSG00000253159	ENST00000252085	T	0.41400	1.0	5.55	3.74	0.42951	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48822	0.1521	M	0.84433	2.695	0.09310	N	1	B;B	0.26809	0.16;0.1	B;B	0.27170	0.062;0.077	T	0.47995	-0.9073	9	0.52906	T	0.07	.	11.4063	0.49900	0.07:0.1252:0.8048:0.0	.	62;62	O60330-2;O60330	.;PCDGC_HUMAN	H	62	ENSP00000252085:R62H	ENSP00000252085:R62H	R	+	2	0	PCDHGA12	140790695	1.000000	0.71417	0.908000	0.35775	0.194000	0.23727	5.368000	0.66133	1.333000	0.45449	0.555000	0.69702	CGC	.	.	none		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		A	140810511	G	A	140810511	3	1	4	1	0	0	0	0	1	0	0	0	11553	1087	38	1	187	1	PCDHGA12	5	140810511	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	334100	140810511	40104749	68	929										
PCDH1	5097	hgsc.bcm.edu	37	chr5	141248200	141248200	+	Frame_Shift_Del	DEL	C	C	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcataggagggccgctcaaaCttgggggcgttgtcattggt							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:141248200delC	ENST00000394536.3	-	2	976	c.837delG	c.(835-837)aagfs	p.K279fs	PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Frame_Shift_Del_p.K279fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.K257fs|PCDH1_ENST00000503492.1_Frame_Shift_Del_p.K279fs|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.K267fs	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	279	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCCGCTCAAACTTGGGGGCGT	0.607																																					p.F280fs	Ovarian(132;1609 1739 4190 14731 45037)	Pindel,Atlas-Indel	.											.	PCDH1	119	.	0			c.838delT						PASS	.						40	41	41					5																	141248200		2203	4300	6503	SO:0001589	frameshift_variant	5097	exon2			.	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.837delG	5.37:g.141248200delC	ENSP00000378043:p.Lys279fs	Somatic	84	.	.		WXS	Illumina HiSeq	Phase_I	62	10	0.161	NM_032420	Q8IUP2	Frame_Shift_Del	DEL	ENST00000394536.3	37	CCDS43375.1																																																																																			.	.	none		0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		-	141248200	C	-	141248200	7	5	4	1	0	1	0	1	0	0	0	0	11506	564	20	0	2976	0	PCDH1	5	141248200	Frame_Shift_Del	DEL	C	TCGA-FA-A6HN-01A-11D-A31X-10	437689	141248200	39667060	69	930										
SPRY4	81848	hgsc.bcm.edu	37	chr5	141694497	141694497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgctttgggccggtggtcagGgccaggctagggttgtctat	17	9	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:141694497G>A	ENST00000434127.2	-	2	420	c.177C>T	c.(175-177)gcC>gcT	p.A59A	SPRY4_ENST00000344120.4_Silent_p.A82A|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	59					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGTCAGGGCCAGGCTAG	0.642									Testicular Cancer, Familial Clustering of																												p.A82A		Atlas-SNP	.											.	SPRY4	31	.	0			c.C246T						PASS	.						29	32	31					5																	141694497		2198	4294	6492	SO:0001819	synonymous_variant	81848	exon3	Familial Cancer Database		GGTCAGGGCCAGG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.177C>T	5.37:g.141694497G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	22	0.229167	NM_030964	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	CCDS47296.1																																																																																			.	.	none		0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141694497	G	A	141694497	2	1	4	1	0	0	0	0	0	0	0	1	15107	1219	43	2		2	SPRY4	5	141694497	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	446297	141694497	39220763	70	931										
C5orf46	389336	hgsc.bcm.edu	37	chr5	147286021	147286021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agcaggtcaggaataagacaAgcagtcccaggacaactgtc	11	10	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:147286021A>C	ENST00000318315.4	-	1	44	c.44T>G	c.(43-45)cTt>cGt	p.L15R	C5orf46_ENST00000515291.1_Missense_Mutation_p.L15R|C5orf46_ENST00000510432.1_5'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	15						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						GAATAAGACAAGCAGTCCCAG	0.458																																					p.L15R		Atlas-SNP	.											.	C5orf46	8	.	0			c.T44G						PASS	.						103	89	94					5																	147286021		2203	4300	6503	SO:0001583	missense	389336	exon1			AAGACAAGCAGTC		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.44T>G	5.37:g.147286021A>C	ENSP00000315370:p.Leu15Arg	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	281	42	0.149466	NM_206966	A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	CCDS34267.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087544	0.36855	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.52057	0.68;0.68	4.88	2.47	0.30058	.	0.338031	0.21758	N	0.069580	T	0.54679	0.1873	.	.	.	0.20307	N	0.999918	D	0.57257	0.979	P	0.59487	0.858	T	0.44406	-0.9330	9	0.59425	D	0.04	-2.2362	4.8194	0.13383	0.7:0.2008:0.0991:0.0	.	15	Q6UWT4	CE046_HUMAN	R	15	ENSP00000315370:L15R;ENSP00000425984:L15R	ENSP00000315370:L15R	L	-	2	0	C5orf46	147266214	0.078000	0.21339	0.294000	0.24946	0.995000	0.86356	1.064000	0.30579	0.449000	0.26747	0.533000	0.62120	CTT	.	.	none		0.458	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		C	147286021	A	C	147286021	3	2	4	1	0	0	0	0	1	0	0	0	2305	72	3	5	231	5	C5orf46	5	147286021	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	5591524	147286021	33629239	71	932										
C5orf46	389336	hgsc.bcm.edu	37	chr5	147286047	147286047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cccaggacaactgtcaggcgAagtactgagacagccattct	10	12	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr5:147286047A>G	ENST00000318315.4	-	1	18	c.18T>C	c.(16-18)ctT>ctC	p.L6L	C5orf46_ENST00000515291.1_Silent_p.L6L|C5orf46_ENST00000510432.1_5'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	6						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						CTGTCAGGCGAAGTACTGAGA	0.453																																					p.L6L		Atlas-SNP	.											.	C5orf46	8	.	0			c.T18C						PASS	.						102	88	93					5																	147286047		2203	4300	6503	SO:0001819	synonymous_variant	389336	exon1			CAGGCGAAGTACT		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.18T>C	5.37:g.147286047A>G		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	271	39	0.143911	NM_206966	A8K038|Q8WU04	Silent	SNP	ENST00000318315.4	37	CCDS34267.1																																																																																			.	.	none		0.453	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		G	147286047	A	G	147286047	2	3	4	1	0	0	0	0	0	0	0	1	2305	233	9	2		2	C5orf46	5	147286047	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	26	147286047	33629213	72	933										
IRF4	3662	hgsc.bcm.edu	37	chr6	393209	393209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggcatgagcgcggtgagctgCggcaacgggaagctccgcca	17	12	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:393209C>T	ENST00000380956.4	+	2	183	c.57C>T	c.(55-57)tgC>tgT	p.C19C	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	19					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGGTGAGCTGCGGCAACGGGA	0.711			T	IGH@	MM																																p.C19C		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C57T						PASS	.						29	32	31					6																	393209		2181	4272	6453	SO:0001819	synonymous_variant	3662	exon2			GAGCTGCGGCAAC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.57C>T	6.37:g.393209C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	180	73	0.405556	NM_001195286	Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	CCDS4469.1																																																																																			.	.	none		0.711	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			T	393209	C	T	393209	2	4	4	1	0	0	0	0	0	0	0	1	7832	776	27	1		1	IRF4	6	393209	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		393209	170721858	73	934			1	5		3	3	140	N	G_C	5.905459e-07
IRF4	3662	hgsc.bcm.edu	37	chr6	393222	393222	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgagctgcggcaacgggaagCtccgccagtggctgatcgac	15	12	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:393222C>G	ENST00000380956.4	+	2	196	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	24					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAACGGGAAGCTCCGCCAGTG	0.701			T	IGH@	MM																																p.L24V		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C70G						PASS	.						31	32	32					6																	393222		2192	4286	6478	SO:0001583	missense	3662	exon2			GGGAAGCTCCGCC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.70C>G	6.37:g.393222C>G	ENSP00000370343:p.Leu24Val	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	205	79	0.385366	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123443	0.77436	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98747	-5.11	4.58	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.134094	0.50627	N	0.000102	D	0.99202	0.9723	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.996;0.995;1.0	D;D;D	0.91635	0.997;0.994;0.999	D	0.99449	1.0940	10	0.72032	D	0.01	-24.4797	17.6301	0.88104	0.0:1.0:0.0:0.0	.	24;24;24	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	V	24;54	ENSP00000370343:L24V	ENSP00000370343:L24V	L	+	1	0	IRF4	338222	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.118000	0.57884	2.399000	0.81585	0.306000	0.20318	CTC	.	.	none		0.701	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			G	393222	C	G	393222	3	3	4	1	0	0	0	0	1	0	0	0	7832	797	28	4	72	4	IRF4	6	393222	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	13	393222	170721845	74	935			1	5		3	3	140	N	G_C	5.905459e-07
IRF4	3662	hgsc.bcm.edu	37	chr6	393348	393348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agcaggactacaaccgcgagGaggacgccgcgctcttcaag	13	13	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:393348G>A	ENST00000380956.4	+	2	322	c.196G>A	c.(196-198)Gag>Aag	p.E66K	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	66					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAACCGCGAGGAGGACGCCGC	0.721			T	IGH@	MM																																p.E66K		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.G196A						PASS	.						22	20	21					6																	393348		2199	4300	6499	SO:0001583	missense	3662	exon2			CGCGAGGAGGACG	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.196G>A	6.37:g.393348G>A	ENSP00000370343:p.Glu66Lys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	117	49	0.418803	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466289	0.84425	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97731	-4.51	4.58	4.58	0.56647	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.099647	0.64402	D	0.000002	D	0.96870	0.8978	L	0.33189	0.99	0.80722	D	1	P;B;D	0.65815	0.798;0.379;0.995	P;P;D	0.74348	0.889;0.612;0.983	D	0.95508	0.8583	10	0.20046	T	0.44	-25.9593	17.6301	0.88104	0.0:0.0:1.0:0.0	.	66;66;66	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	K	66;96	ENSP00000370343:E66K	ENSP00000370343:E66K	E	+	1	0	IRF4	338348	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.728000	0.91484	2.399000	0.81585	0.306000	0.20318	GAG	.	.	none		0.721	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	393348	G	A	393348	3	1	4	1	0	0	0	0	1	0	0	0	7832	1175	41	2	198	2	IRF4	6	393348	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	126	393348	170721719	75	936			1	5		3	3	140	N	G_C	5.905459e-07
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056391	26056391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttgcaccagagtgcccttgCtcaccaggctcttgagacca	9	14	2	2	rs370479531		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26056391C>T	ENST00000343677.2	-	1	308	c.266G>A	c.(265-267)aGc>aAc	p.S89N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	89	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGTGCCCTTGCTCACCAGGCT	0.527																																					p.S89N		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G266A						PASS	.						112	117	115					6																	26056391		2203	4300	6503	SO:0001583	missense	3006	exon1			CCCTTGCTCACCA	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.266G>A	6.37:g.26056391C>T	ENSP00000339566:p.Ser89Asn	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	83	12	0.144578	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581681	0.28180	.	.	ENSG00000187837	ENST00000343677	T	0.09538	2.97	5.63	3.74	0.42951	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.448135	0.25625	N	0.029383	T	0.04092	0.0114	L	0.48260	1.515	0.38874	D	0.956758	B	0.32968	0.392	B	0.33960	0.173	T	0.33111	-0.9881	10	0.25106	T	0.35	-23.6919	9.0651	0.36458	0.0:0.661:0.263:0.076	.	89	P16403	H12_HUMAN	N	89	ENSP00000339566:S89N	ENSP00000339566:S89N	S	-	2	0	HIST1H1C	26164370	0.006000	0.16342	1.000000	0.80357	0.345000	0.29048	-0.967000	0.03821	1.521000	0.48983	0.655000	0.94253	AGC	.	.	alt		0.527	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056391	C	T	26056391	3	4	4	1	0	0	0	0	1	0	0	0	7124	797	28	2	379	2	HIST1H1C	6	26056391	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	25663043	26056391	145058676	76	937										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056512	26056513	+	Frame_Shift_Ins	INS	-	-	CA													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctacgctctttagaggcggcINScacagccttggtgatgagct					rs201575715		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26056512_26056513insCA	ENST00000343677.2	-	1	186_187	c.144_145insTG	c.(142-147)gtggccfs	p.A49fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	49	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTAGAGGCGGCCACAGCCTTGG	0.569																																					p.A49fs		Atlas-Indel	.											.	HIST1H1C	80	.	0			c.145_146insTG						PASS	.																																			SO:0001589	frameshift_variant	3006	exon1			.	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.143_144dupTG	6.37:g.26056515_26056516dupCA	ENSP00000339566:p.Ala49fs	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	12	0.164384	NM_005319	A8K4I2	Frame_Shift_Ins	INS	ENST00000343677.2	37	CCDS4577.1																																																																																			.	.	none		0.569	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		CA	26056513	-	CA	26056512	7	5	4	1	0	1	1	0	0	0	0	0	7124	739	26	0	500	0	HIST1H1C	6	26056512	Frame_Shift_Ins	INS	-	TCGA-FA-A6HN-01A-11D-A31X-10	121	26056512	145058555	77	938										
HIST1H2BC	8347	hgsc.bcm.edu	37	chr6	26123770	26123770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtttacttggagctggtgtaCttggtgacggccttggtgcc	15	8	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26123770C>T	ENST00000314332.5	-	1	368	c.363G>A	c.(361-363)aaG>aaA	p.K121K	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Silent_p.K121K|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	121					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						AGCTGGTGTACTTGGTGACGG	0.577																																					p.K121K		Atlas-SNP	.											.	HIST1H2BC	35	.	0			c.G363A						PASS	.						85	88	87					6																	26123770		2203	4300	6503	SO:0001819	synonymous_variant	8347	exon1			GGTGTACTTGGTG	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.363G>A	6.37:g.26123770C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	107	20	0.186916	NM_003526	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	CCDS4584.1																																																																																			.	.	none		0.577	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		T	26123770	C	T	26123770	2	4	4	1	0	0	0	0	0	0	0	1	7142	564	20	2		2	HIST1H2BC	6	26123770	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	67258	26123770	144991297	78	939										
HIST1H2AC	8334	hgsc.bcm.edu	37	chr6	26124565	26124565	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggccgagtgcaccgcctgctCcgtaaaggcaactacgcaga	12	14	0	1	rs531071869		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26124565C>A	ENST00000602637.1	+	1	135	c.105C>A	c.(103-105)ctC>ctA	p.L35L	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Silent_p.L35L|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						ACCGCCTGCTCCGTAAAGGCA	0.657																																					p.L35L		Atlas-SNP	.											.	HIST1H2AC	29	.	0			c.C105A						PASS	.						43	45	44					6																	26124565		2203	4300	6503	SO:0001819	synonymous_variant	8334	exon1			CCTGCTCCGTAAA	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.105C>A	6.37:g.26124565C>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	81	12	0.148148	NM_003512	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Silent	SNP	ENST00000602637.1	37	CCDS4585.1																																																																																			.	.	none		0.657	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		A	26124565	C	A	26124565	2	1	4	1	0	0	0	0	0	0	0	1	7130	842	30	4		4	HIST1H2AC	6	26124565	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	795	26124565	144990502	79	940										
HIST1H4E	8367	hgsc.bcm.edu	37	chr6	26204831	26204967	+	Start_Codon_Del	DEL	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	taagaatactaccgtcgcttGtttttcagatttttgcggct					rs371154912|rs368144763|rs143652738|rs370851019|rs372764747|rs140853277|rs199914113|rs572544472|rs201304438|rs368355176|rs533676183|rs374139942|rs147263244|rs201324703|rs532184358|rs540442619|rs139616312|rs368745174|rs145699171|rs377601396|rs376058980|rs184503150|rs144621549|rs144595768|rs376989143|rs61742995|rs202183095|rs61742993|rs201319649|rs372683763	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26204831_26204967delGTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	ENST00000360441.4	+	0	0_110					NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e						CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R20S(2)|p.G5C(1)|p.N26I(1)|p.G5D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				ACCGTCGCTTGTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAAGCCTGCCATC	0.537											OREG0017239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		Pindel	.											.	HIST1H4E	22	.	5	Substitution - Missense(5)	lung(3)|upper_aerodigestive_tract(1)|breast(1)	.						PASS	.																																			SO:0001582	initiator_codon_variant	8367	wholegene			.	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441		6.37:g.26204831_26204967delGTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA		Somatic	69	.	.	784	WXS	Illumina HiSeq	Phase_I	56	12	0.214	NM_003545	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Del	DEL	ENST00000360441.4	37	CCDS4593.1																																																																																			.	.	none		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		-	26204967	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	-	26204831	7	5	4	1	0	1	0	1	0	0	0	0	7169	1392	48	0		0	HIST1H4E	6	26204831	Start_Codon_Del	DEL	GTTTTTCAGATTTTTGCGGCTATTTTCGTTGGTGTGTTGGTCATGTCTGGTCGCGGCAAAGGCGGAAAGGGACTGGGTAAAGGAGGCGCTAAGCGTCACCGTAAGGTCCTGCGAGATAACATCCAGGGCATTACCAA	TCGA-FA-A6HN-01A-11D-A31X-10	80266	26204831	144910236	80	941										
HIST1H2BG	8339	hgsc.bcm.edu	37	chr6	26216544	26216544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggtaccttcggacactgcgtGcttggccagctctccgggaa	13	13	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26216544G>A	ENST00000244601.3	-	1	328	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	110					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GACACTGCGTGCTTGGCCAGC	0.552																																					p.H110Y		Atlas-SNP	.											.	HIST1H2BG	25	.	0			c.C328T						PASS	.						96	96	96					6																	26216544		2203	4300	6503	SO:0001583	missense	8339	exon1			CTGCGTGCTTGGC	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.328C>T	6.37:g.26216544G>A	ENSP00000244601:p.His110Tyr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	76	7	0.0921053	NM_003518	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.343011	0.61073	.	.	ENSG00000187990	ENST00000244601	T	0.51574	0.7	3.89	3.89	0.44902	.	0.000000	0.35124	U	0.003433	T	0.55033	0.1895	.	.	.	0.38755	D	0.954201	.	.	.	.	.	.	T	0.63193	-0.6692	7	0.87932	D	0	.	15.3699	0.74554	0.0:0.0:1.0:0.0	.	.	.	.	Y	110	ENSP00000244601:H110Y	ENSP00000244601:H110Y	H	-	1	0	HIST1H2BG	26324523	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	7.631000	0.83237	2.172000	0.68678	0.561000	0.74099	CAC	.	.	none		0.552	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		A	26216544	G	A	26216544	3	1	4	1	0	0	0	0	1	0	0	0	7146	1319	46	2	56	2	HIST1H2BG	6	26216544	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	11713	26216544	144898523	81	942										
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234570	26234570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cttaggcttggccgccttggGcttaggggctttggccttag	15	10	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26234570G>A	ENST00000244534.5	-	1	646	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	198					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCGCCTTGGGCTTAGGGGCT	0.532																																					p.P198S		Atlas-SNP	.											.	HIST1H1D	40	.	0			c.C592T						PASS	.						82	89	86					6																	26234570		2203	4300	6503	SO:0001583	missense	3007	exon1			CCTTGGGCTTAGG	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.592C>T	6.37:g.26234570G>A	ENSP00000244534:p.Pro198Ser	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	117	35	0.299145	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	6.207	0.406380	0.11754	.	.	ENSG00000124575	ENST00000244534	T	0.23147	1.92	5.12	2.17	0.27698	.	0.556195	0.18052	N	0.153226	T	0.05823	0.0152	N	0.08118	0	0.40794	D	0.98328	B	0.27853	0.191	B	0.30943	0.122	T	0.24905	-1.0147	10	0.21014	T	0.42	-9.1084	15.3281	0.74182	0.0:0.399:0.601:0.0	.	198	P16402	H13_HUMAN	S	198	ENSP00000244534:P198S	ENSP00000244534:P198S	P	-	1	0	HIST1H1D	26342549	1.000000	0.71417	0.919000	0.36401	0.065000	0.16274	3.426000	0.52778	0.213000	0.20722	0.650000	0.86243	CCC	.	.	none		0.532	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		A	26234570	G	A	26234570	3	1	4	1	0	0	0	0	1	0	0	0	7125	1203	42	2	77	2	HIST1H1D	6	26234570	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	18026	26234570	144880497	82	943			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234687	26234687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agcggttgctggcttctttaCcttcttaggagtctttttga	10	8	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26234687C>A	ENST00000244534.5	-	1	529	c.475G>T	c.(475-477)Gta>Tta	p.V159L		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	159					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.V159I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCTTCTTTACCTTCTTAGGA	0.537																																					p.V159L		Atlas-SNP	.											HIST1H1D,NS,carcinoma,0,1	HIST1H1D	40	1	1	Substitution - Missense(1)	breast(1)	c.G475T						PASS	.						93	98	96					6																	26234687		2203	4300	6503	SO:0001583	missense	3007	exon1			TCTTTACCTTCTT	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.475G>T	6.37:g.26234687C>A	ENSP00000244534:p.Val159Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	87	12	0.137931	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.315837	0.23908	.	.	ENSG00000124575	ENST00000244534	T	0.13901	2.55	5.22	3.42	0.39159	.	0.381500	0.28349	N	0.015665	T	0.02230	0.0069	N	0.08118	0	0.09310	N	0.999998	B	0.17038	0.02	B	0.14023	0.01	T	0.42498	-0.9448	10	0.41790	T	0.15	-0.0274	10.3773	0.44090	0.0:0.7912:0.1347:0.074	.	159	P16402	H13_HUMAN	L	159	ENSP00000244534:V159L	ENSP00000244534:V159L	V	-	1	0	HIST1H1D	26342666	0.543000	0.26434	0.026000	0.17262	0.002000	0.02628	3.715000	0.54897	0.691000	0.31592	0.650000	0.86243	GTA	.	.	none		0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		A	26234687	C	A	26234687	3	1	4	1	0	0	0	0	1	0	0	0	7125	507	18	4	194	4	HIST1H1D	6	26234687	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	117	26234687	144880380	83	944			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234812	26234812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cctttttggccttgggtttgCcttccccggaagccgctttc	10	14	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26234812C>T	ENST00000244534.5	-	1	404	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	117					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGGTTTGCCTTCCCCGGA	0.587																																					p.G117D		Atlas-SNP	.											.	HIST1H1D	40	.	0			c.G350A						PASS	.						61	68	65					6																	26234812		2203	4300	6503	SO:0001583	missense	3007	exon1			GGTTTGCCTTCCC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.350G>A	6.37:g.26234812C>T	ENSP00000244534:p.Gly117Asp	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	20	0.25	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	4.798	0.148320	0.09134	.	.	ENSG00000124575	ENST00000244534	T	0.10668	2.85	5.23	3.34	0.38264	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.673705	0.14516	N	0.314786	T	0.01287	0.0042	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.07325	T	0.83	-14.8326	9.3036	0.37861	0.0824:0.3818:0.5358:0.0	.	117	P16402	H13_HUMAN	D	117	ENSP00000244534:G117D	ENSP00000244534:G117D	G	-	2	0	HIST1H1D	26342791	0.999000	0.42202	0.915000	0.36163	0.006000	0.05464	2.678000	0.46900	1.354000	0.45846	-0.147000	0.13772	GGC	.	.	none		0.587	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		T	26234812	C	T	26234812	3	4	4	1	0	0	0	0	1	0	0	0	7125	739	26	2	319	2	HIST1H1D	6	26234812	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	125	26234812	144880255	84	945			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H4F	8361	hgsc.bcm.edu	37	chr6	26240823	26240823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	catttatgaggagacccgcgGtgttcttaaggtgttcctgg	13	8	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26240823G>A	ENST00000377745.2	+	1	263	c.170G>A	c.(169-171)gGt>gAt	p.G57D		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	57					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G57D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GAGACCCGCGGTGTTCTTAAG	0.577																																					p.G57D		Atlas-SNP	.											HIST1H4F,colon,carcinoma,0,1	HIST1H4F	9	1	1	Substitution - Missense(1)	large_intestine(1)	c.G170A						PASS	.						76	67	70					6																	26240823		2203	4300	6503	SO:0001583	missense	8361	exon1			CCCGCGGTGTTCT	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.170G>A	6.37:g.26240823G>A	ENSP00000366974:p.Gly57Asp	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	103	15	0.145631	NM_003540	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.700370	0.48307	.	.	ENSG00000198327	ENST00000377745	T	0.67523	-0.27	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	.	.	.	0.51233	D	0.999914	.	.	.	.	.	.	T	0.78013	-0.2370	7	0.66056	D	0.02	.	16.4132	0.83726	0.0:0.0:1.0:0.0	.	.	.	.	D	57	ENSP00000366974:G57D	ENSP00000366974:G57D	G	+	2	0	HIST1H4F	26348802	1.000000	0.71417	0.993000	0.49108	0.003000	0.03518	9.222000	0.95196	2.430000	0.82344	0.563000	0.77884	GGT	.	.	none		0.577	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		A	26240823	G	A	26240823	3	1	4	1	0	0	0	0	1	0	0	0	7170	1261	44	2	172	2	HIST1H4F	6	26240823	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	6011	26240823	144874244	85	946			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H3F	8968	hgsc.bcm.edu	37	chr6	26250470	26250480	+	Frame_Shift_Del	DEL	GCATGATAGTC	GCATGATAGTC	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agcgagctggatgtccttggGcatgatagtcactcgcttgg							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	GCATGATAGTC	GCATGATAGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26250470_26250480delGCATGATAGTC	ENST00000446824.2	-	1	355_365	c.354_364delGACTATCATGC	c.(352-366)gtgactatcatgcccfs	p.TIMP119fs	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	119					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						ATGTCCTTGGGCATGATAGTCACTCGCTTGG	0.583											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.119_122del		Pindel,Atlas-Indel	.											.	HIST1H3F	16	.	0			c.355_365del						PASS	.																																			SO:0001589	frameshift_variant	8968	exon1			.	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.354_364delGACTATCATGC	6.37:g.26250470_26250480delGCATGATAGTC	ENSP00000444823:p.Thr119fs	Somatic	94	.	.	785	WXS	Illumina HiSeq	Phase_I	69	14	0.203	NM_021018	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000446824.2	37	CCDS4600.1																																																																																			.	.	none		0.583	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		-	26250480	GCATGATAGTC	-	26250470	7	5	4	1	0	1	0	1	0	0	0	0	7160	1203	42	0	50	0	HIST1H3F	6	26250470	Frame_Shift_Del	DEL	GCATGATAGTC	TCGA-FA-A6HN-01A-11D-A31X-10	9647	26250470	144864597	86	947			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H3F	8968	hgsc.bcm.edu	37	chr6	26250506	26250506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cttggcgtggatagcacacaGgttggtgtcctcaaagagcc	13	10	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26250506G>A	ENST00000446824.2	-	1	329	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	110					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						ATAGCACACAGGTTGGTGTCC	0.602											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L110L		Atlas-SNP	.											.	HIST1H3F	16	.	0			c.C328T						PASS	.						102	99	100					6																	26250506		2203	4300	6503	SO:0001819	synonymous_variant	8968	exon1			CACACAGGTTGGT	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.328C>T	6.37:g.26250506G>A		Somatic	87	0	0	785	WXS	Illumina HiSeq	Phase_I	75	18	0.24	NM_021018	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000446824.2	37	CCDS4600.1																																																																																			.	.	none		0.602	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		A	26250506	G	A	26250506	2	1	4	1	0	0	0	0	0	0	0	1	7160	991	35	2		2	HIST1H3F	6	26250506	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	36	26250506	144864561	87	948			2	6	25841222	6	6	15937	N	GCATGATAGTC_G_C	2.298821e-07
HIST1H4H	8365	hgsc.bcm.edu	37	chr6	26285420	26285420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcagcaagcaggagccttagCcaccgaagccgtaaagagtg	13	11	0	1	rs377418572		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:26285420C>T	ENST00000377727.1	-	1	317	c.308G>A	c.(307-309)gGc>gAc	p.G103D	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.G103D	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	103					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GGAGCCTTAGCCACCGAAGCC	0.507										HNSCC(76;0.23)																											p.G103D		Atlas-SNP	.											.	HIST1H4H	16	.	0			c.G308A						PASS	.						118	103	108					6																	26285420		2203	4300	6503	SO:0001583	missense	8365	exon1			CCTTAGCCACCGA	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.308G>A	6.37:g.26285420C>T	ENSP00000366956:p.Gly103Asp	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	95	38	0.4	NM_003543	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	17.75	3.466993	0.63625	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	.	.	.	4.13	4.13	0.48395	.	0.000000	0.52532	U	0.000072	T	0.67173	0.2865	.	.	.	0.39431	D	0.967073	.	.	.	.	.	.	T	0.73436	-0.3983	6	0.87932	D	0	.	14.2671	0.66126	0.0:1.0:0.0:0.0	.	.	.	.	D	103	.	ENSP00000289352:G103D	G	-	2	0	HIST1H4H	26393399	1.000000	0.71417	0.878000	0.34440	0.015000	0.08874	7.702000	0.84576	2.034000	0.60081	0.313000	0.20887	GGC	.	.	alt		0.507	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		T	26285420	C	T	26285420	3	4	4	1	0	0	0	0	1	0	0	0	7172	739	26	2	7	2	HIST1H4H	6	26285420	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	34914	26285420	144829647	88	949										
HIST1H2AG	8969	hgsc.bcm.edu	37	chr6	27100963	27100963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcaccgcctgctccgcaaagGcaactatgccgagcgggtcg	13	15	0	0	rs201426448		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27100963G>A	ENST00000359193.2	+	1	132	c.113G>A	c.(112-114)gGc>gAc	p.G38D	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	38						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CTCCGCAAAGGCAACTATGCC	0.692																																					p.G38D		Atlas-SNP	.											.	HIST1H2AG	37	.	0			c.G113A						PASS	.						32	37	35					6																	27100963		2203	4300	6503	SO:0001583	missense	8969	exon1			GCAAAGGCAACTA	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.113G>A	6.37:g.27100963G>A	ENSP00000352119:p.Gly38Asp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	111	21	0.189189	NM_021064	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000701	0.54254	.	.	ENSG00000196787	ENST00000359193	T	0.68025	-0.3	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.40908	D	0.000983	T	0.70325	0.3211	.	.	.	0.43255	D	0.995186	P	0.50819	0.939	P	0.55112	0.769	T	0.75897	-0.3155	9	0.87932	D	0	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	38	P0C0S8	H2A1_HUMAN	D	38	ENSP00000352119:G38D	ENSP00000352119:G38D	G	+	2	0	HIST1H2AG	27208942	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	8.818000	0.91991	2.217000	0.71921	0.655000	0.94253	GGC	G|0.999;A|0.001	0.001	weak		0.692	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		A	27100963	G	A	27100963	3	1	4	1	0	0	0	0	1	0	0	0	7133	1203	42	2	115	2	HIST1H2AG	6	27100963	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	815543	27100963	144014104	89	950										
HIST1H4I	8294	hgsc.bcm.edu	37	chr6	27107282	27107282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttgaaggtgttcctggagaaCgtgatccgggacgccgtgac	15	9	0	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27107282C>T	ENST00000354348.2	+	1	207	c.195C>T	c.(193-195)aaC>aaT	p.N65N	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	65					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						TCCTGGAGAACGTGATCCGGG	0.652			T	BCL6	NHL																																p.N65N		Atlas-SNP	.		Dom	yes		6	6p21.3	8294	"histone 1, H4i (H4FM)"		L	.	HIST1H4I	26	.	0			c.C195T						PASS	.						81	74	76					6																	27107282		2203	4300	6503	SO:0001819	synonymous_variant	8294	exon1			GGAGAACGTGATC	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"Histones / Replication-dependent"	4793	protein-coding gene	gene with protein product		602833	"H4 histone family, member M", "histone 1, H4i"	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.195C>T	6.37:g.27107282C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	140	49	0.35	NM_003495	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000354348.2	37	CCDS4620.1																																																																																			.	.	none		0.652	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		T	27107282	C	T	27107282	2	4	4	1	0	0	0	0	0	0	0	1	7173	535	19	1		1	HIST1H4I	6	27107282	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	6319	27107282	144007785	90	951										
HIST1H2AK	8330	hgsc.bcm.edu	37	chr6	27805883	27805883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgcaagtggcgcgggatgaTgcgggtcttcttgttgtcgc	16	9	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27805883T>C	ENST00000330180.2	-	1	234	c.235A>G	c.(235-237)Atc>Gtc	p.I79V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627																																					p.I79V		Atlas-SNP	.											HIST1H2AK,NS,carcinoma,0,1	HIST1H2AK	28	1	1	Substitution - Missense(1)	kidney(1)	c.A235G						PASS	.						108	110	109					6																	27805883		2203	4300	6503	SO:0001583	missense	8330	exon1			GGATGATGCGGGT	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.235A>G	6.37:g.27805883T>C	ENSP00000330307:p.Ile79Val	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	149	22	0.147651	NM_003510	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757723	0.69648	.	.	ENSG00000184348	ENST00000330180	T	0.73897	-0.79	4.28	4.28	0.50868	.	0.000000	0.31507	U	0.007535	T	0.73644	0.3613	.	.	.	0.32741	N	0.507672	.	.	.	.	.	.	T	0.77308	-0.2636	7	0.87932	D	0	.	13.277	0.60191	0.0:0.0:0.0:1.0	.	.	.	.	V	79	ENSP00000330307:I79V	ENSP00000330307:I79V	I	-	1	0	HIST1H2AK	27913862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.949000	0.70257	1.860000	0.53959	0.454000	0.30748	ATC	.	.	none		0.627	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		C	27805883	T	C	27805883	3	2	4	1	0	0	0	0	1	0	0	0	7137	1464	51	2	161	2	HIST1H2AK	6	27805883	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	698601	27805883	143309184	91	952										
HIST1H2BN	8341	hgsc.bcm.edu	37	chr6	27806574	27806574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tccgtgtacgtgtacaaggtGctgaagcaggtccaccccga	12	12	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27806574G>A	ENST00000396980.3	+	1	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Silent_p.V45V	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	45					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGTACAAGGTGCTGAAGCAGG	0.577																																					p.V45V		Atlas-SNP	.											.	HIST1H2BN	11	.	0			c.G135A						PASS	.						227	205	212					6																	27806574		2203	4298	6501	SO:0001819	synonymous_variant	8341	exon1			CAAGGTGCTGAAG	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.135G>A	6.37:g.27806574G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	113	22	0.19469	NM_003520	B2R5L4|Q494S8|Q96FB7	Silent	SNP	ENST00000396980.3	37	CCDS4633.1																																																																																			.	.	none		0.577	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		A	27806574	G	A	27806574	2	1	4	1	0	0	0	0	0	0	0	1	7153	1306	46	2		2	HIST1H2BN	6	27806574	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	691	27806574	143308493	92	953										
HIST1H3I	8354	hgsc.bcm.edu	37	chr6	27839875	27839875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttaaagtcctgtgcgatctcCcgtaccaagcgctgaaaagg	10	11	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27839875C>T	ENST00000328488.2	-	1	224	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	73					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGCGATCTCCCGTACCAAGC	0.632																																					p.R73R		Atlas-SNP	.											.	HIST1H3I	28	.	0			c.G219A						PASS	.						82	87	85					6																	27839875		2203	4300	6503	SO:0001819	synonymous_variant	8354	exon1			GATCTCCCGTACC	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.219G>A	6.37:g.27839875C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	154	60	0.38961	NM_003533	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	CCDS4636.1																																																																																			.	.	none		0.632	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		T	27839875	C	T	27839875	2	4	4	1	0	0	0	0	0	0	0	1	7163	610	22	2		2	HIST1H3I	6	27839875	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	33301	27839875	143275192	93	954										
HIST1H2AM	8336	hgsc.bcm.edu	37	chr6	27860749	27860749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccagctccaggatctcggcaGttaggtactccagcaccgcc	10	16	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:27860749G>A	ENST00000359611.2	-	1	214	c.179C>T	c.(178-180)aCt>aTt	p.T60I	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	60						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GATCTCGGCAGTTAGGTACTC	0.672																																					p.T60I		Atlas-SNP	.											.	HIST1H2AM	27	.	0			c.C179T						PASS	.						66	72	70					6																	27860749		2202	4300	6502	SO:0001583	missense	8336	exon1			TCGGCAGTTAGGT	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.179C>T	6.37:g.27860749G>A	ENSP00000352627:p.Thr60Ile	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	161	32	0.198758	NM_003514	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907441	0.72868	.	.	ENSG00000233224	ENST00000359611	T	0.66995	-0.24	4.06	4.06	0.47325	.	0.000000	0.30911	U	0.008621	T	0.76856	0.4046	M	0.83774	2.66	0.35595	D	0.807403	.	.	.	.	.	.	T	0.81680	-0.0823	8	0.87932	D	0	.	16.02	0.80473	0.0:0.0:1.0:0.0	.	.	.	.	I	60	ENSP00000352627:T60I	ENSP00000352627:T60I	T	-	2	0	HIST1H2AM	27968728	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.384000	0.79751	2.545000	0.85829	0.655000	0.94253	ACT	.	.	none		0.672	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		A	27860749	G	A	27860749	3	1	4	1	0	0	0	0	1	0	0	0	7139	1029	36	2	217	2	HIST1H2AM	6	27860749	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	20874	27860749	143254318	94	955										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239047	31239047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgtaatccttgccgtcgtagGcggactggtcatacccgcgg	13	12	1	0	rs281860470		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:31239047G>A	ENST00000376228.5	-	3	436	c.422C>T	c.(421-423)gCc>gTc	p.A141V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A141V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	141	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCCGTCGTAGGCGGACTGGTC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		12845	0.0		0.0	False		,,,				2504	0.001				p.A141V		Atlas-SNP	.											.	HLA-C	92	.	0			c.C422T						PASS	.						35	27	30					6																	31239047		2182	4253	6435	SO:0001583	missense	3107	exon3			TCGTAGGCGGACT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.422C>T	6.37:g.31239047G>A	ENSP00000365402:p.Ala141Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	150	23	0.153333	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.394451	0.42410	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00018	9.08;9.08	2.59	2.59	0.31030	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.229535	0.21218	U	0.078193	T	0.00328	0.0010	H	0.99914	4.94	0.20196	N	0.999921	D;P;P;P	0.58970	0.984;0.878;0.878;0.939	P;P;P;P	0.58391	0.838;0.482;0.61;0.662	T	0.46830	-0.9163	10	0.87932	D	0	.	7.4947	0.27481	0.0:0.2697:0.7303:0.0	.	141;141;141;141	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	141;141;141;178	ENSP00000365402:A141V;ENSP00000372819:A141V	ENSP00000365402:A141V	A	-	2	0	HLA-C	31347026	0.028000	0.19301	0.011000	0.14972	0.023000	0.10783	0.934000	0.28910	1.768000	0.52137	0.305000	0.20034	GCC	.	.	weak		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31239047	G	A	31239047	3	1	4	1	0	0	0	0	1	0	0	0	7197	1203	42	2	702	2	HLA-C	6	31239047	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	3378298	31239047	139876020	95	956										
EHMT2	10919	hgsc.bcm.edu	37	chr6	31856190	31856190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcagtggtgtttgaccatgcGggcgcggtgggtctcacaga	17	9	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:31856190G>T	ENST00000375537.4	-	12	1465	c.1459C>A	c.(1459-1461)Cgc>Agc	p.R487S	EHMT2_ENST00000375528.4_Missense_Mutation_p.R510S|EHMT2_ENST00000375530.4_Missense_Mutation_p.R453S|EHMT2_ENST00000395728.3_Missense_Mutation_p.R544S|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	487					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGACCATGCGGGCGCGGTGG	0.662																																					p.R487S		Atlas-SNP	.											.	EHMT2	45	.	0			c.C1459A						PASS	.						30	29	29					6																	31856190		1511	2708	4219	SO:0001583	missense	10919	exon12			CCATGCGGGCGCG	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1459C>A	6.37:g.31856190G>T	ENSP00000364687:p.Arg487Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	83	5	0.060241	NM_006709	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567273	0.65651	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.72282	-0.64;-0.52;-0.47;-0.64	4.62	4.62	0.57501	.	0.074232	0.56097	D	0.000039	T	0.64897	0.2640	L	0.43152	1.355	0.36772	D	0.883846	D;D;D;D	0.64830	0.975;0.994;0.989;0.978	P;P;P;P	0.60473	0.735;0.875;0.753;0.753	T	0.72104	-0.4391	10	0.87932	D	0	.	5.8076	0.18448	0.0967:0.0:0.7103:0.1931	.	510;453;487;301	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	S	544;510;453;487;301	ENSP00000379078:R544S;ENSP00000364678:R510S;ENSP00000364680:R453S;ENSP00000364687:R487S	ENSP00000364678:R510S	R	-	1	0	EHMT2	31964169	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.094000	0.41719	2.394000	0.81467	0.555000	0.69702	CGC	.	.	none		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		T	31856190	G	T	31856190	3	4	4	1	0	0	0	0	1	0	0	0	4984	1116	39	4	2241	4	EHMT2	6	31856190	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	617143	31856190	139258877	96	957										
CFB	629	hgsc.bcm.edu	37	chr6	31918104	31918104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agctgtatgggggctgtggtGtctgagtactttgtgctgac	16	6	1	2	rs553118090		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:31918104G>A	ENST00000425368.2	+	12	2061	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	CFB_ENST00000456570.1_Silent_p.V1018V|CFB_ENST00000556679.1_Silent_p.V1018V|CFB_ENST00000477310.1_Silent_p.V867V	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	516	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGCTGTGGTGTCTGAGTACT	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		24111	0.0		0.0	False		,,,				2504	0.0				p.V516V		Atlas-SNP	.											.	CFB	33	.	0			c.G1548A						PASS	.						128	90	104					6																	31918104		1511	2709	4220	SO:0001819	synonymous_variant	629	exon12			TGTGGTGTCTGAG	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1548G>A	6.37:g.31918104G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	5	0.0746269	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	CCDS4729.1																																																																																			.	.	none		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		A	31918104	G	A	31918104	2	1	4	1	0	0	0	0	0	0	0	1	3278	1364	48	2		2	CFB	6	31918104	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	61914	31918104	139196963	97	958										
ANKS1A	23294	hgsc.bcm.edu	37	chr6	34857318	34857318	+	Missense_Mutation	SNP	A	A	G													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgggggcggcggcggcggcAgcggcggcggcggcggcggc							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:34857318A>G	ENST00000360359.3	+	1	277	c.139A>G	c.(139-141)Agc>Ggc	p.S47G	TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_Missense_Mutation_p.S47G|TAF11_ENST00000361288.4_5'Flank	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	47	Gly-rich.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						cggcggcggcagcggcggcgg	0.771																																					p.S47G		Atlas-SNP	.											ANKS1A,NS,carcinoma,0,1	ANKS1A	123	1	0			c.A139G						scavenged	.						2	2	2					6																	34857318		328	1149	1477	SO:0001583	missense	23294	exon1			GGCGGCAGCGGCG	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.139A>G	6.37:g.34857318A>G	ENSP00000353518:p.Ser47Gly	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_015245	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.186111	0.00026	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;D	0.88046	1.12;-2.33	0.892	-1.78	0.07957	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.39253	0.1071	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36480	-0.9746	9	0.08381	T	0.77	-3.6165	5.4862	0.16751	0.2218:0.0:0.7782:0.0	.	47;47	B4DQW8;Q92625	.;ANS1A_HUMAN	G	47	ENSP00000353518:S47G;ENSP00000438752:S47G	ENSP00000353518:S47G	S	+	1	0	ANKS1A	34965296	0.056000	0.20664	0.088000	0.20740	0.019000	0.09904	0.065000	0.14466	-1.299000	0.02344	-1.288000	0.01363	AGC	.	.	none		0.771	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		G	34857318	A	G	34857318	3	3	4	1	0	0	0	0	1	0	0	0	688	188	7	3	141	3	ANKS1A	6	34857318	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	2939214	34857318	136257749	98	959	22	2								
ANKS1A	23294	hgsc.bcm.edu	37	chr6	34857324	34857324	+	Missense_Mutation	SNP	G	G	A													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcggcggcggcggcagcggcGgcggcggcggcggcctcggc							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:34857324G>A	ENST00000360359.3	+	1	283	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_Missense_Mutation_p.G49S|TAF11_ENST00000361288.4_5'Flank	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	49	Gly-rich.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						cggcagcggcggcggcggcgg	0.771																																					p.G49S		Atlas-SNP	.											ANKS1A,NS,carcinoma,0,1	ANKS1A	123	1	0			c.G145A						scavenged	.						2	2	2					6																	34857324		382	1194	1576	SO:0001583	missense	23294	exon1			AGCGGCGGCGGCG	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.145G>A	6.37:g.34857324G>A	ENSP00000353518:p.Gly49Ser	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	10	7	0.7	NM_015245	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008376	0.54361	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;D	0.98649	1.19;-5.05	4.58	1.53	0.23141	Ankyrin repeat-containing domain (1);	1.264600	0.06451	N	0.727796	D	0.90783	0.7106	N	0.19112	0.55	0.25322	N	0.989108	P;B	0.49090	0.919;0.003	B;B	0.38655	0.278;0.002	D	0.88474	0.3064	10	0.17832	T	0.49	-4.009	8.7007	0.34323	0.0795:0.0:0.6816:0.2389	.	49;49	B4DQW8;Q92625	.;ANS1A_HUMAN	S	49	ENSP00000353518:G49S;ENSP00000438752:G49S	ENSP00000353518:G49S	G	+	1	0	ANKS1A	34965302	1.000000	0.71417	0.794000	0.32065	0.327000	0.28475	2.586000	0.46119	0.389000	0.25086	0.471000	0.43371	GGC	.	.	none		0.771	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	34857324	G	A	34857324	3	1	4	1	0	0	0	0	1	0	0	0	688	1116	39	1	147	1	ANKS1A	6	34857324	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	6	34857324	136257743	99	960	22	2								
BTBD9	114781	hgsc.bcm.edu	37	chr6	38545397	38545397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcagacacgggctggaaaaTataatttctgccaagaacga	10	8	1	2	rs373363401		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:38545397T>C	ENST00000481247.1	-	6	1284	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	BTBD9_ENST00000403056.1_Missense_Mutation_p.Y378C|BTBD9_ENST00000408958.1_Missense_Mutation_p.Y310C|BTBD9_ENST00000314100.6_Missense_Mutation_p.Y310C|BTBD9_ENST00000419706.2_Missense_Mutation_p.Y319C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	378					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTGGAAAATATAATTTCTG	0.358																																					p.Y378C		Atlas-SNP	.											.	BTBD9	85	.	0			c.A1133G						PASS	.	T	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,3730		0,0,1865	102	97	99		1133,956,1133,929	5.7	1	6		99	2,8190		0,2,4094	no	missense,missense,missense,missense	BTBD9	NM_001099272.1,NM_001172418.1,NM_052893.1,NM_152733.2	194,194,194,194	0,2,5959	CC,CT,TT		0.0244,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging,probably-damaging	378/613,319/583,378/613,310/545	38545397	2,11920	1865	4096	5961	SO:0001583	missense	114781	exon7			GGAAAATATAATT		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1133A>G	6.37:g.38545397T>C	ENSP00000418751:p.Tyr378Cys	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	51	21	0.411765	NM_052893	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288377	0.59976	0.0	2.44E-4	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98135	-4.74;-4.74;-0.95;-4.74;-4.74	5.71	5.71	0.89125	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.124631	0.56097	D	0.000033	D	0.98298	0.9436	M	0.69523	2.12	0.80722	D	1	B;D	0.89917	0.07;1.0	B;D	0.87578	0.078;0.998	D	0.99437	1.0937	10	0.59425	D	0.04	.	15.9738	0.80044	0.0:0.0:0.0:1.0	.	319;378	Q494V9;Q96Q07	.;BTBD9_HUMAN	C	310;378;319;378;310	ENSP00000323408:Y310C;ENSP00000418751:Y378C;ENSP00000415365:Y319C;ENSP00000386121:Y378C;ENSP00000386211:Y310C	ENSP00000323408:Y310C	Y	-	2	0	BTBD9	38653375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.854000	0.86942	2.179000	0.69175	0.528000	0.53228	TAT	.	.	weak		0.358	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		C	38545397	T	C	38545397	3	2	4	1	0	0	0	0	1	0	0	0	1548	1406	49	2	820	2	BTBD9	6	38545397	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	3688073	38545397	132569670	100	961										
TREML2	79865	hgsc.bcm.edu	37	chr6	41166017	41166017	+	Missense_Mutation	SNP	C	C	T													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggggccctttcacccagactCgggcaaagccaggctcacac					rs77093113	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:41166017C>T	ENST00000483722.1	-	2	391	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCCAGACTCGGGCAAAGCC	0.572																																					p.R69Q		Atlas-SNP	.											TREML2,caecum,carcinoma,0,2	TREML2	41	2	0			c.G206A						scavenged	.						126	124	125					6																	41166017		2203	4300	6503	SO:0001583	missense	79865	exon2			CAGACTCGGGCAA	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.206G>A	6.37:g.41166017C>T	ENSP00000418767:p.Arg69Gln	Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	64	8	0.125	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968589	0.53614	.	.	ENSG00000112195	ENST00000483722	T	0.64991	-0.13	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129603	0.32563	N	0.005924	T	0.66567	0.2802	L	0.60455	1.87	0.26861	N	0.967955	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.48119	T	0.1	-23.6018	13.6225	0.62144	0.0:1.0:0.0:0.0	.	69	Q5T2D2	TRML2_HUMAN	Q	69	ENSP00000418767:R69Q	ENSP00000418767:R69Q	R	-	2	0	TREML2	41273995	0.203000	0.23435	0.325000	0.25375	0.013000	0.08279	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	CGA	C|0.995;T|0.005	0.005	strong		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166017	C	T	41166017	3	4	4	1	0	0	0	0	1	0	0	0	16470	884	31	1	775	1	TREML2	6	41166017	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2620620	41166017	129949050	101	962	23	4								
TREML2	79865	hgsc.bcm.edu	37	chr6	41166021	41166021	+	Missense_Mutation	SNP	C	C	T													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccctttcacccagactcgggCaaagccaggctcacacttct					rs386700523|rs61736679	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:41166021C>T	ENST00000483722.1	-	2	387	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGACTCGGGCAAAGCCAGGC	0.572																																					p.A68T		Atlas-SNP	.											TREML2,caecum,carcinoma,0,1	TREML2	41	1	0			c.G202A						scavenged	.						133	131	132					6																	41166021		2203	4300	6503	SO:0001583	missense	79865	exon2			CTCGGGCAAAGCC	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.202G>A	6.37:g.41166021C>T	ENSP00000418767:p.Ala68Thr	Somatic	48	1	0.0208333		WXS	Illumina HiSeq	Phase_I	64	8	0.125	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.711493	0.00712	.	.	ENSG00000112195	ENST00000483722	T	0.67865	-0.29	4.75	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.06508	0.0167	N	0.00263	-1.745	0.21256	N	0.999743	B	0.10296	0.003	B	0.04013	0.001	T	0.39121	-0.9629	10	0.02654	T	1	-2.4265	5.3045	0.15795	0.0:0.0954:0.3459:0.5587	.	68	Q5T2D2	TRML2_HUMAN	T	68	ENSP00000418767:A68T	ENSP00000418767:A68T	A	-	1	0	TREML2	41273999	0.082000	0.21442	0.327000	0.25402	0.012000	0.07955	-0.620000	0.05565	-0.041000	0.13558	-0.440000	0.05779	GCC	C|0.989;T|0.011	0.011	strong		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166021	C	T	41166021	3	4	4	1	0	0	0	0	1	0	0	0	16470	710	25	2	779	2	TREML2	6	41166021	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	4	41166021	129949046	102	963	23	4								
TREML2	79865	hgsc.bcm.edu	37	chr6	41166022	41166022	+	Silent	SNP	A	A	G													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cctttcacccagactcgggcAaagccaggctcacacttctt					rs386700523|rs139267947		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:41166022A>G	ENST00000483722.1	-	2	386	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	67	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACTCGGGCAAAGCCAGGCT	0.572																																					p.F67F		Atlas-SNP	.											TREML2,caecum,carcinoma,0,1	TREML2	41	1	0			c.T201C						scavenged	.						135	134	134					6																	41166022		2203	4300	6503	SO:0001819	synonymous_variant	79865	exon2			TCGGGCAAAGCCA	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.201T>C	6.37:g.41166022A>G		Somatic	47	1	0.0212766		WXS	Illumina HiSeq	Phase_I	63	8	0.126984	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																			A|0.997;G|0.003	0.003	weak		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		G	41166022	A	G	41166022	2	3	4	1	0	0	0	0	0	0	0	1	16470	127	5	2		2	TREML2	6	41166022	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	1	41166022	129949045	103	964	23	4								
TREML2	79865	hgsc.bcm.edu	37	chr6	41166025	41166025	+	Silent	SNP	G	G	A													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttcacccagactcgggcaaaGccaggctcacacttcttctt					rs113267424	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:41166025G>A	ENST00000483722.1	-	2	383	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	66	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCGGGCAAAGCCAGGCTCAC	0.567																																					p.G66G		Atlas-SNP	.											TREML2,caecum,carcinoma,0,1	TREML2	41	1	0			c.C198T						scavenged	.						139	139	139					6																	41166025		2203	4300	6503	SO:0001819	synonymous_variant	79865	exon2			GGCAAAGCCAGGC	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.198C>T	6.37:g.41166025G>A		Somatic	48	1	0.0208333		WXS	Illumina HiSeq	Phase_I	64	8	0.125	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																			G|0.996;A|0.004	0.004	strong		0.567	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166025	G	A	41166025	2	1	4	1	0	0	0	0	0	0	0	1	16470	958	34	2		2	TREML2	6	41166025	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	3	41166025	129949042	104	965	23	4								
ABCC10	89845	hgsc.bcm.edu	37	chr6	43399895	43399895	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cccaggagtccagattacatCctaccctgcagtcctggatg	9	14	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:43399895C>T	ENST00000372530.4	+	3	392	c.177C>T	c.(175-177)atC>atT	p.I59I	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Silent_p.I16I	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CAGATTACATCCTACCCTGCA	0.567																																					p.I59I		Atlas-SNP	.											.	ABCC10	118	.	0			c.C177T						PASS	.						119	105	110					6																	43399895		2203	4300	6503	SO:0001819	synonymous_variant	89845	exon3			TTACATCCTACCC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.177C>T	6.37:g.43399895C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	6	0.130435	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																			.	.	none		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43399895	C	T	43399895	2	4	4	1	0	0	0	0	0	0	0	1	50	845	30	2		2	ABCC10	6	43399895	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2233870	43399895	127715172	105	966										
TFAP2D	83741	hgsc.bcm.edu	37	chr6	50712940	50712940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaaagaacagacagcaagaaAaaagatgatcctggcgacca	10	8	0	5	rs201424626		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:50712940A>G	ENST00000008391.3	+	6	1232	c.1004A>G	c.(1003-1005)aAa>aGa	p.K335R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACAGCAAGAAAAAAGATGATC	0.403													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20233	0.0		0.0	False		,,,				2504	0.0				p.K335R		Atlas-SNP	.											TFAP2D,NS,carcinoma,0,1	TFAP2D	144	1	0			c.A1004G						scavenged	.						121	117	119					6																	50712940		2203	4300	6503	SO:0001583	missense	83741	exon6			CAAGAAAAAAGAT	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1004A>G	6.37:g.50712940A>G	ENSP00000008391:p.Lys335Arg	Somatic	198	1	0.00505051		WXS	Illumina HiSeq	Phase_I	182	39	0.214286	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	17.94	3.512600	0.64522	.	.	ENSG00000008197	ENST00000008391	D	0.96992	-4.2	5.77	5.77	0.91146	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92001	0.7466	L	0.39898	1.24	0.80722	D	1	P	0.37207	0.587	B	0.37091	0.241	D	0.93015	0.6435	10	0.54805	T	0.06	-8.0383	16.0828	0.81017	1.0:0.0:0.0:0.0	.	335	Q7Z6R9	AP2D_HUMAN	R	335	ENSP00000008391:K335R	ENSP00000008391:K335R	K	+	2	0	TFAP2D	50820899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.206000	0.71126	0.477000	0.44152	AAA	A|1.000;G|0.000	0.000	strong		0.403	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		G	50712940	A	G	50712940	3	3	4	1	0	0	0	0	1	0	0	0	15787	14	1	2	1026	2	TFAP2D	6	50712940	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	7313045	50712940	120402127	106	967										
EFHC1	114327	hgsc.bcm.edu	37	chr6	52344443	52344443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctaccttctctccagtgtttGgtcaccggttcatcatcctt	6	14	4	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:52344443G>T	ENST00000371068.5	+	9	1601	c.1498G>T	c.(1498-1500)Ggt>Tgt	p.G500C	EFHC1_ENST00000433625.2_Missense_Mutation_p.G409C|EFHC1_ENST00000538167.1_Missense_Mutation_p.G481C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	500	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TCCAGTGTTTGGTCACCGGTT	0.433																																					p.G500C		Atlas-SNP	.											.	EFHC1	68	.	0			c.G1498T						PASS	.						184	187	186					6																	52344443		2203	4300	6503	SO:0001583	missense	114327	exon9			GTGTTTGGTCACC	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1498G>T	6.37:g.52344443G>T	ENSP00000360107:p.Gly500Cys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	98	17	0.173469	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354583	0.61293	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.70869	-0.27;-0.52;-0.48	5.62	4.76	0.60689	Uncharacterised domain DM10 (2);	0.049564	0.85682	D	0.000000	T	0.80819	0.4696	M	0.89163	3.01	0.48341	D	0.999637	D;B;P	0.89917	1.0;0.37;0.873	D;B;P	0.74023	0.982;0.311;0.583	D	0.84095	0.0392	10	0.66056	D	0.02	-6.5516	9.8614	0.41116	0.1553:0.0:0.8447:0.0	.	481;409;500	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	C	500;409;481	ENSP00000360107:G500C;ENSP00000416492:G409C;ENSP00000444521:G481C	ENSP00000360107:G500C	G	+	1	0	EFHC1	52452402	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.224000	0.51238	1.382000	0.46385	0.555000	0.69702	GGT	.	.	none		0.433	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		T	52344443	G	T	52344443	3	4	4	1	0	0	0	0	1	0	0	0	4946	1348	47	4	1542	4	EFHC1	6	52344443	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1631503	52344443	118770624	107	968										
HTR1B	3351	hgsc.bcm.edu	37	chr6	78172576	78172576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gacgccagaagaagggcggcAgcgagatagagatggagaag	18	6	0	5			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:78172576A>G	ENST00000369947.2	-	1	914	c.545T>C	c.(544-546)cTg>cCg	p.L182P		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	182					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAGGGCGGCAGCGAGATAGA	0.602																																					p.L182P		Atlas-SNP	.											.	HTR1B	55	.	0			c.T545C						PASS	.						71	76	75					6																	78172576		2203	4300	6503	SO:0001583	missense	3351	exon1			GGCGGCAGCGAGA	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.545T>C	6.37:g.78172576A>G	ENSP00000358963:p.Leu182Pro	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	95	14	0.147368	NM_000863	Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733478	0.69189	.	.	ENSG00000135312	ENST00000369947	T	0.75704	-0.96	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.137678	0.47455	D	0.000229	T	0.80618	0.4657	M	0.76328	2.33	0.80722	D	1	D	0.56521	0.976	D	0.63703	0.917	T	0.81895	-0.0723	9	.	.	.	.	14.1973	0.65679	1.0:0.0:0.0:0.0	.	182	P28222	5HT1B_HUMAN	P	182	ENSP00000358963:L182P	.	L	-	2	0	HTR1B	78229295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.995000	0.93534	2.138000	0.66242	0.454000	0.30748	CTG	.	.	none		0.602	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		G	78172576	A	G	78172576	3	3	4	1	0	0	0	0	1	0	0	0	7437	188	7	3	631	3	HTR1B	6	78172576	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	25828133	78172576	92942491	108	969										
PHIP	55023	hgsc.bcm.edu	37	chr6	79671508	79671508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcttgcagatccacgggggcCacaaatgctgaggcaatatc	12	11	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:79671508C>T	ENST00000275034.4	-	31	3722	c.3555G>A	c.(3553-3555)gtG>gtA	p.V1185V	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1185	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCACGGGGGCCACAAATGCTG	0.343																																					p.V1185V		Atlas-SNP	.											.	PHIP	177	.	0			c.G3555A						PASS	.						71	66	68					6																	79671508		2203	4300	6503	SO:0001819	synonymous_variant	55023	exon31			GGGGGCCACAAAT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3555G>A	6.37:g.79671508C>T		Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	245	11	0.044898	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																			.	.	none		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			T	79671508	C	T	79671508	2	4	4	1	0	0	0	0	0	0	0	1	11842	581	21	2		2	PHIP	6	79671508	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	1498932	79671508	91443559	109	970										
CYB5R4	51167	hgsc.bcm.edu	37	chr6	84569547	84569547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcccggcccccaggtcgcagCagcgtgtcgcctccgggggg	16	17	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:84569547C>G	ENST00000369681.5	+	1	186	c.46C>G	c.(46-48)Cag>Gag	p.Q16E	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	16					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CAGGTCGCAGCAGCGTGTCGC	0.677											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q16E	Esophageal Squamous(86;1289 1332 25971 40349 52675)	Atlas-SNP	.											.	CYB5R4	72	.	0			c.C46G						PASS	.						21	25	24					6																	84569547		2202	4300	6502	SO:0001583	missense	51167	exon1			TCGCAGCAGCGTG	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.46C>G	6.37:g.84569547C>G	ENSP00000358695:p.Gln16Glu	Somatic	84	0	0	1230	WXS	Illumina HiSeq	Phase_I	76	14	0.184211	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031288	0.75504	.	.	ENSG00000065615	ENST00000369681	T	0.44482	0.92	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.53249	1.67	0.80722	D	1	P	0.49185	0.92	P	0.48304	0.573	T	0.09509	-1.0671	10	0.40728	T	0.16	-26.7412	19.2909	0.94098	0.0:1.0:0.0:0.0	.	16	Q7L1T6	NB5R4_HUMAN	E	16	ENSP00000358695:Q16E	ENSP00000358695:Q16E	Q	+	1	0	CYB5R4	84626266	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.502000	0.73695	2.894000	0.99253	0.655000	0.94253	CAG	.	.	none		0.677	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		G	84569547	C	G	84569547	3	3	4	1	0	0	0	0	1	0	0	0	4129	711	25	4	48	4	CYB5R4	6	84569547	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	4898039	84569547	86545520	110	971										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152671306	152671306	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttaaaggtcaggggtaccttGtggtgggccaattgctgggt	16	6	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:152671306G>C	ENST00000367255.5	-	72	12499	c.11898C>G	c.(11896-11898)caC>caG	p.H3966Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.H3890Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3966Q|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3966					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGGTACCTTGTGGTGGGCCA	0.562										HNSCC(10;0.0054)																											p.H3966Q		Atlas-SNP	.											.	SYNE1	3227	.	0			c.C11898G						PASS	.						98	87	91					6																	152671306		2203	4300	6503	SO:0001583	missense	23345	exon72			TACCTTGTGGTGG	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11898C>G	6.37:g.152671306G>C	ENSP00000356224:p.His3966Gln	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	61	13	0.213115	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022767	0.35701	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.43294	0.95;0.95;0.95	5.61	2.8	0.32819	.	0.089810	0.48767	N	0.000173	T	0.20210	0.0486	M	0.64997	1.995	0.80722	D	1	P;P;P	0.44478	0.836;0.836;0.836	B;B;B	0.42138	0.377;0.377;0.377	T	0.10497	-1.0627	10	0.12766	T	0.61	.	9.0358	0.36287	0.0673:0.0:0.5578:0.3749	.	3966;3966;3966	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	Q	3966;3966;3890	ENSP00000356224:H3966Q;ENSP00000265368:H3966Q;ENSP00000341887:H3890Q	ENSP00000265368:H3966Q	H	-	3	2	SYNE1	152712999	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	3.159000	0.50731	0.288000	0.22398	0.561000	0.74099	CAC	.	.	none		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152671306	G	C	152671306	3	2	4	1	0	0	0	0	1	0	0	0	15442	1368	48	4	14868	4	SYNE1	6	152671306	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	68101759	152671306	18443761	111	972										
TAGAP	117289	hgsc.bcm.edu	37	chr6	159463199	159463199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttcaagtctgtctccaaagCcccagaaaaatctgatgcag	7	11	4	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:159463199C>T	ENST00000367066.3	-	5	557	c.226G>A	c.(226-228)Gct>Act	p.A76T	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.A76T	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	76					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)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTCTCCAAAGCCCCAGAAAAA	0.493																																					p.A76T		Atlas-SNP	.											TAGAP,NS,carcinoma,+1,1	TAGAP	75	1	0			c.G226A						scavenged	.						175	184	181					6																	159463199		2203	4300	6503	SO:0001583	missense	117289	exon5			CCAAAGCCCCAGA	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.226G>A	6.37:g.159463199C>T	ENSP00000356033:p.Ala76Thr	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	78	11	0.141026	NM_138810	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357352	0.24598	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.20598	2.24;2.06	6.08	-1.9	0.07665	.	0.809387	0.11245	N	0.584227	T	0.04724	0.0128	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.12837	0.003;0.008	T	0.39901	-0.9591	10	0.28530	T	0.3	-5.3104	1.843	0.03153	0.3909:0.1811:0.2861:0.142	.	76;76	Q8N103-4;Q8N103	.;TAGAP_HUMAN	T	76	ENSP00000356033:A76T;ENSP00000340217:A76T	ENSP00000340217:A76T	A	-	1	0	TAGAP	159383187	0.000000	0.05858	0.003000	0.11579	0.528000	0.34623	-0.055000	0.11807	-0.195000	0.10382	0.591000	0.81541	GCT	.	.	none		0.493	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		T	159463199	C	T	159463199	3	4	4	1	0	0	0	0	1	0	0	0	15534	739	26	2	2011	2	TAGAP	6	159463199	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	6791893	159463199	11651868	112	973										
PLG	5340	hgsc.bcm.edu	37	chr6	161173935	161173935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tctctccctctgtatagggtGacagtggaggtcctctggtt	12	10	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr6:161173935G>A	ENST00000308192.9	+	19	2338	c.2275G>A	c.(2275-2277)Gac>Aac	p.D759N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	759	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)	TGTATAGGGTGACAGTGGAGG	0.468																																					p.D759N		Atlas-SNP	.											.	PLG	150	.	0			c.G2275A						PASS	.						95	89	91					6																	161173935		2203	4300	6503	SO:0001583	missense	5340	exon19			TAGGGTGACAGTG	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.2275G>A	6.37:g.161173935G>A	ENSP00000308938:p.Asp759Asn	Somatic	352	0	0		WXS	Illumina HiSeq	Phase_I	283	58	0.204947	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.023041	0.75275	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.94457	-3.43	3.44	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41097	U	0.000956	D	0.97676	0.9238	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98936	1.0789	10	0.87932	D	0	.	14.7974	0.69886	0.0:0.0:1.0:0.0	.	759	P00747	PLMN_HUMAN	N	759;159	ENSP00000308938:D759N	ENSP00000308938:D759N	D	+	1	0	PLG	161093925	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	8.934000	0.92915	1.614000	0.50241	0.460000	0.39030	GAC	.	.	none		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161173935	G	A	161173935	3	1	4	1	0	0	0	0	1	0	0	0	12086	1290	45	2	2353	2	PLG	6	161173935	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1710736	161173935	9941132	113	974										
ACTB	60	hgsc.bcm.edu	37	chr7	5568064	5568064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgaagtccagggcgacgtagCacagcttctccttaatgtca	10	12	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:5568064C>T	ENST00000331789.5	-	4	841	c.650G>A	c.(649-651)tGc>tAc	p.C217Y	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	217					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGCGACGTAGCACAGCTTCTC	0.592																																					p.C217Y		Atlas-SNP	.											.	ACTB	45	.	0			c.G650A						PASS	.						68	69	69					7																	5568064		2203	4300	6503	SO:0001583	missense	60	exon4			ACGTAGCACAGCT	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.650G>A	7.37:g.5568064C>T	ENSP00000349960:p.Cys217Tyr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	69	14	0.202899	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460810	0.63513	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95788	-3.81	5.55	5.55	0.83447	.	0.086725	0.49916	D	0.000140	D	0.99052	0.9675	H	0.99689	4.705	0.58432	D	0.999999	P	0.44044	0.825	D	0.72338	0.977	D	0.98548	1.0635	10	0.87932	D	0	.	18.1418	0.89642	0.0:1.0:0.0:0.0	.	217	P60709	ACTB_HUMAN	Y	217;193;189;136	ENSP00000349960:C217Y	ENSP00000440549:C136Y	C	-	2	0	ACTB	5534590	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.533000	0.81994	2.617000	0.88574	0.650000	0.86243	TGC	.	.	none		0.592	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		T	5568064	C	T	5568064	3	4	4	1	0	0	0	0	1	0	0	0	193	710	25	2	489	2	ACTB	7	5568064	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		5568064	153570599	114	975										
HIBADH	11112	hgsc.bcm.edu	37	chr7	27702327	27702327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aggtccttacccgctgcaaaGctgccggctgccggccgcag	13	16	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:27702327G>A	ENST00000265395.2	-	1	287	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	27					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CCGCTGCAAAGCTGCCGGCTG	0.682																																					p.S27S		Atlas-SNP	.											.	HIBADH	28	.	0			c.C81T						PASS	.						3	3	3					7																	27702327		1444	2917	4361	SO:0001819	synonymous_variant	11112	exon1			TGCAAAGCTGCCG	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.81C>T	7.37:g.27702327G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	135	25	0.185185	NM_152740	Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1																																																																																			.	.	none		0.682	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		A	27702327	G	A	27702327	2	1	4	1	0	0	0	0	0	0	0	1	7099	962	34	2		2	HIBADH	7	27702327	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	22134263	27702327	131436336	115	976										
POM121	9883	hgsc.bcm.edu	37	chr7	72413472	72413472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccgctgaggggcagccaccGggggccgccaagccggccct	17	17	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:72413472G>A	ENST00000434423.2	+	11	2940	c.2940G>A	c.(2938-2940)ccG>ccA	p.P980P	POM121_ENST00000395270.1_Silent_p.P715P|POM121_ENST00000358357.3_Silent_p.P715P|POM121_ENST00000446813.1_Silent_p.P715P|POM121_ENST00000257622.4_Silent_p.P715P			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	980	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P715P(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCAGCCACCGGGGGCCGCCA	0.657																																					p.P715P		Atlas-SNP	.											POM121_ENST00000395270,NS,carcinoma,0,2	POM121	131	2	2	Substitution - coding silent(2)	endometrium(2)	c.G2145A						scavenged	.						27	37	34					7																	72413472		2196	4292	6488	SO:0001819	synonymous_variant	9883	exon11			GCCACCGGGGGCC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2940G>A	7.37:g.72413472G>A		Somatic	285	4	0.0140351		WXS	Illumina HiSeq	Phase_I	226	4	0.0176991	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37																																																																																				.	.	none		0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72413472	G	A	72413472	2	1	4	1	0	0	0	0	0	0	0	1	12239	1103	39	1		1	POM121	7	72413472	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	44711145	72413472	86725191	116	977										
SEMA3D	223117	hgsc.bcm.edu	37	chr7	84629120	84629120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aatacatcccagaatccttcTtctgcaaacttcgaatcagt	4	12	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:84629120T>C	ENST00000284136.6	-	17	2013	c.1970A>G	c.(1969-1971)aAg>aGg	p.K657R	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	657	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGAATCCTTCTTCTGCAAACT	0.393																																					p.K657R	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.A1970G						PASS	.						67	60	62					7																	84629120		2203	4300	6503	SO:0001583	missense	223117	exon17			TCCTTCTTCTGCA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1970A>G	7.37:g.84629120T>C	ENSP00000284136:p.Lys657Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	62	12	0.193548	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	1.767	-0.485356	0.04352	.	.	ENSG00000153993	ENST00000284136	T	0.64438	-0.1	5.83	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.467996	0.26895	N	0.021959	T	0.30854	0.0778	N	0.03238	-0.38	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.02654	T	1	.	7.8504	0.29451	0.0:0.2012:0.0:0.7988	.	657	O95025	SEM3D_HUMAN	R	657	ENSP00000284136:K657R	ENSP00000284136:K657R	K	-	2	0	SEMA3D	84467056	0.430000	0.25538	1.000000	0.80357	0.991000	0.79684	0.597000	0.24059	1.043000	0.40175	0.533000	0.62120	AAG	.	.	none		0.393	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		C	84629120	T	C	84629120	3	2	4	1	0	0	0	0	1	0	0	0	14027	1609	56	3	367	3	SEMA3D	7	84629120	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	12215648	84629120	74509543	117	978										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88956767	88956767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acgacttcatcagctggctgAgttaaggcagcaatctgaat	10	9	3	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:88956767A>C	ENST00000333190.4	+	3	968	c.359A>C	c.(358-360)gAg>gCg	p.E120A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	120							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGCTGGCTGAGTTAAGGCAG	0.383										HNSCC(36;0.09)																											p.E120A		Atlas-SNP	.											.	ZNF804B	322	.	0			c.A359C						PASS	.						95	95	95					7																	88956767		2203	4300	6503	SO:0001583	missense	219578	exon3			TGGCTGAGTTAAG	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.359A>C	7.37:g.88956767A>C	ENSP00000329638:p.Glu120Ala	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	12	0.12766	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776991	0.90195	.	.	ENSG00000182348	ENST00000333190	T	0.23348	1.91	5.04	5.04	0.67666	.	0.095683	0.45126	D	0.000385	T	0.42314	0.1197	M	0.77486	2.375	0.41418	D	0.987787	D	0.59767	0.986	P	0.50659	0.647	T	0.50533	-0.8817	10	0.72032	D	0.01	-12.1328	15.2309	0.73386	1.0:0.0:0.0:0.0	.	120	A4D1E1	Z804B_HUMAN	A	120	ENSP00000329638:E120A	ENSP00000329638:E120A	E	+	2	0	ZNF804B	88794703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.105000	0.77031	2.239000	0.73571	0.528000	0.53228	GAG	.	.	none		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		C	88956767	A	C	88956767	3	2	4	1	0	0	0	0	1	0	0	0	18168	304	11	5	369	5	ZNF804B	7	88956767	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	4327647	88956767	70181896	118	979										
CPA2	1358	hgsc.bcm.edu	37	chr7	129916536	129916536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccctggatatcttcctcctGccagtcacaaaccctgatgg	8	15	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:129916536G>A	ENST00000222481.4	+	7	709	c.654G>A	c.(652-654)ctG>ctA	p.L218L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	218					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L216L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TCTTCCTCCTGCCAGTCACAA	0.443																																					p.L218L		Atlas-SNP	.											CPA2,NS,carcinoma,0,1	CPA2	36	1	1	Substitution - coding silent(1)	endometrium(1)	c.G654A						PASS	.						212	192	199					7																	129916536		2203	4300	6503	SO:0001819	synonymous_variant	1358	exon7			CCTCCTGCCAGTC	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.654G>A	7.37:g.129916536G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	88	5	0.0568182	NM_001869	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	CCDS5817.2																																																																																			.	.	none		0.443	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		A	129916536	G	A	129916536	2	1	4	1	0	0	0	0	0	0	0	1	3790	1306	46	2		2	CPA2	7	129916536	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	40959769	129916536	29222127	119	980										
DGKI	9162	hgsc.bcm.edu	37	chr7	137080402	137080402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccagaagctggcacacagccCggttccgctggcaggcagcc	13	16	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr7:137080402C>A	ENST00000288490.5	-	33	3023	c.3023G>T	c.(3022-3024)cGg>cTg	p.R1008L	DGKI_ENST00000453654.2_Missense_Mutation_p.R677L|DGKI_ENST00000446122.1_Missense_Mutation_p.R990L|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.R1021L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1008					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						GCACACAGCCCGGTTCCGCTG	0.562																																					p.R1008L		Atlas-SNP	.											DGKI_ENST00000288490,NS,carcinoma,-1,2	DGKI	335	2	0			c.G3023T						PASS	.						76	67	70					7																	137080402		2203	4300	6503	SO:0001583	missense	9162	exon33			ACAGCCCGGTTCC	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.3023G>T	7.37:g.137080402C>A	ENSP00000288490:p.Arg1008Leu	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	62	9	0.145161	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613227	0.87359	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.60424	0.19;0.19;0.19	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.061139	0.64402	D	0.000002	T	0.48750	0.1517	N	0.01640	-0.785	0.58432	D	0.999999	P;P	0.44986	0.659;0.847	P;P	0.54706	0.494;0.759	T	0.67845	-0.5565	10	0.87932	D	0	.	19.4396	0.94813	0.0:1.0:0.0:0.0	.	677;1008	E9PFX6;O75912	.;DGKI_HUMAN	L	677;925;1011;1008;990	ENSP00000392161:R677L;ENSP00000288490:R1008L;ENSP00000399131:R990L	ENSP00000288490:R1008L	R	-	2	0	DGKI	136730942	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.491000	0.66887	2.652000	0.90054	0.650000	0.86243	CGG	.	.	none		0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137080402	C	A	137080402	3	1	4	1	0	0	0	0	1	0	0	0	4471	652	23	4	182	4	DGKI	7	137080402	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	7163866	137080402	22058261	120	981										
KCNU1	157855	hgsc.bcm.edu	37	chr8	36694417	36694417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccaaggctgtttggtgccagGcttgtgtaccttcctaacat	10	11	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:36694417G>A	ENST00000399881.3	+	14	1509	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	491	Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGGTGCCAGGCTTGTGTACC	0.428																																					p.G491D		Atlas-SNP	.											.	KCNU1	359	.	0			c.G1472A						PASS	.						188	187	188					8																	36694417		1879	4107	5986	SO:0001583	missense	157855	exon14			TGCCAGGCTTGTG	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1472G>A	8.37:g.36694417G>A	ENSP00000382770:p.Gly491Asp	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	86	16	0.186047	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985327	0.93044	.	.	ENSG00000215262	ENST00000399881	T	0.66995	-0.24	5.34	5.34	0.76211	Potassium channel, calcium-activated, BK, alpha subunit (2);NAD(P)-binding domain (1);	0.000000	0.38837	U	0.001555	D	0.83746	0.5321	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85851	0.1404	10	0.87932	D	0	-7.8102	18.9859	0.92769	0.0:0.0:1.0:0.0	.	491	A8MYU2	KCNU1_HUMAN	D	491	ENSP00000382770:G491D	ENSP00000382770:G491D	G	+	2	0	KCNU1	36813575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.234000	0.95347	2.657000	0.90304	0.585000	0.79938	GGC	.	.	none		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		A	36694417	G	A	36694417	3	1	4	1	0	0	0	0	1	0	0	0	8093	1203	42	2	1526	2	KCNU1	8	36694417	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10		36694417	109669605	121	982										
ADAM9	8754	hgsc.bcm.edu	37	chr8	38899582	38899582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaagcctatagtgctccctcCtgtggtaataagttggtgga	12	8	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:38899582C>A	ENST00000487273.2	+	12	1326	c.1248C>A	c.(1246-1248)tcC>tcA	p.S416S		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	416	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGCTCCCTCCTGTGGTAATA	0.413																																					p.S416S		Atlas-SNP	.											.	ADAM9	66	.	0			c.C1248A						PASS	.						96	95	95					8																	38899582		2203	4300	6503	SO:0001819	synonymous_variant	8754	exon12			TCCCTCCTGTGGT	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1248C>A	8.37:g.38899582C>A		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	194	45	0.231959	NM_003816	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	CCDS6112.1																																																																																			.	.	none		0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			A	38899582	C	A	38899582	2	1	4	1	0	0	0	0	0	0	0	1	253	668	24	4		4	ADAM9	8	38899582	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2205165	38899582	107464440	122	983										
MCM4	4173	hgsc.bcm.edu	37	chr8	48889332	48889332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	actgggaagaccgtgcgcttGctctgaagccttgtgagcaa	13	10	1	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:48889332G>A	ENST00000262105.2	+	16	2795	c.2586G>A	c.(2584-2586)ttG>ttA	p.L862L	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Silent_p.L862L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	862					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCGTGCGCTTGCTCTGAAGCC	0.527																																					p.L862L		Atlas-SNP	.											.	MCM4	97	.	0			c.G2586A						PASS	.						128	115	120					8																	48889332		2203	4300	6503	SO:0001819	synonymous_variant	4173	exon17			GCGCTTGCTCTGA		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2586G>A	8.37:g.48889332G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	51	10	0.196078	NM_182746	Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	CCDS6143.1																																																																																			.	.	none		0.527	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		A	48889332	G	A	48889332	2	1	4	1	0	0	0	0	0	0	0	1	9389	1310	46	2		2	MCM4	8	48889332	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	9989750	48889332	97474690	123	984										
FAM164A	51101	hgsc.bcm.edu	37	chr8	79629693	79629693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgtagaatgggccaaatttTgctgtgaatgtggcattcga	12	6	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:79629693T>C	ENST00000263849.4	+	9	1045	c.943T>C	c.(943-945)Tgc>Cgc	p.C315R	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	315							metal ion binding (GO:0046872)										GGCCAAATTTTGCTGTGAATG	0.368																																					p.C315R		Atlas-SNP	.											.	.	.	.	0			c.T943C						PASS	.						145	145	145					8																	79629693		2203	4300	6503	SO:0001583	missense	51101	exon9			AAATTTTGCTGTG		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.943T>C	8.37:g.79629693T>C	ENSP00000263849:p.Cys315Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	80	17	0.2125	NM_016010	Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.88|18.88	3.717860|3.717860	0.68844|0.68844	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	D|.	0.82984|.	-1.67|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.085531|.	0.85682|.	D|.	0.000000|.	T|T	0.78610|0.78610	0.4310|0.4310	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.81437|0.81437	-0.0933|-0.0933	9|5	.|.	.|.	.|.	-8.3283|-8.3283	15.2358|15.2358	0.73430|0.73430	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	315|.	Q96GY0|.	F164A_HUMAN|.	R|S	315|186	ENSP00000263849:C315R|.	.|.	C|L	+|+	1|2	0|0	FAM164A|FAM164A	79792248|79792248	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	6.025000|6.025000	0.70864|0.70864	2.060000|2.060000	0.61445|0.61445	0.482000|0.482000	0.46254|0.46254	TGC|TTG	.	.	none		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		C	79629693	T	C	79629693	3	2	4	1	0	0	0	0	1	0	0	0	5478	1812	63	2	977	2	FAM164A	8	79629693	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	30740361	79629693	66734329	124	985										
RIMS2	9699	hgsc.bcm.edu	37	chr8	105263908	105263908	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agatacttttagatgaactaGagctatccaatatggtgatc	8	6	0	5			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:105263908G>C	ENST00000436393.2	+	28	4205	c.3964G>C	c.(3964-3966)Gag>Cag	p.E1322Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.E1304Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.E1118Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.E1143Q|RIMS2_ENST00000339750.2_Missense_Mutation_p.E240Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1366	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATGAACTAGAGCTATCCAA	0.448										HNSCC(12;0.0054)																											p.E1304Q		Atlas-SNP	.											.	RIMS2	1357	.	0			c.G3910C						PASS	.						166	164	165					8																	105263908		1887	4136	6023	SO:0001583	missense	9699	exon24			GAACTAGAGCTAT	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3964G>C	8.37:g.105263908G>C	ENSP00000390665:p.Glu1322Gln	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	130	23	0.176923	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	15.52	2.857994	0.51376	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.64	5.64	0.86602	.	.	.	.	.	T	0.65502	0.2697	N	0.14661	0.345	0.58432	D	0.999992	P;B;B;P	0.39480	0.534;0.241;0.241;0.675	B;B;B;B	0.37888	0.107;0.192;0.192;0.26	T	0.64257	-0.6450	9	0.23302	T	0.38	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1322;1143;1118;1304	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	Q	1341;1304;1366;1143;1118;1322;240;240	ENSP00000384892:E1304Q;ENSP00000262231:E1143Q;ENSP00000423559:E1118Q;ENSP00000390665:E1322Q;ENSP00000428478:E240Q;ENSP00000342051:E240Q	ENSP00000262231:E1143Q	E	+	1	0	RIMS2	105333084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	GAG	.	.	none		0.448	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		C	105263908	G	C	105263908	3	2	4	1	0	0	0	0	1	0	0	0	13368	943	33	4	4200	4	RIMS2	8	105263908	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	25634215	105263908	41100114	125	986										
MYC	4609	hgsc.bcm.edu	37	chr8	128751032	128751032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagcgtctgctccacctccaGcttgtacctgcaggatctga	9	15	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr8:128751032G>A	ENST00000259523.6	+	2	1729	c.524G>A	c.(523-525)aGc>aAc	p.S175N	MYC_ENST00000377970.2_Missense_Mutation_p.S190N|MYC_ENST00000524013.1_Missense_Mutation_p.S189N			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	175					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	TCCACCTCCAGCTTGTACCTG	0.667		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S190N		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	MYC_ENST00000377970,NS,lymphoid_neoplasm,0,2	MYC	168	2	0			c.G569A						PASS	.						23	24	24					8																	128751032		2202	4299	6501	SO:0001583	missense	4609	exon2			CCTCCAGCTTGTA		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.524G>A	8.37:g.128751032G>A	ENSP00000259523:p.Ser175Asn	Somatic	69	0	0	1567	WXS	Illumina HiSeq	Phase_I	52	10	0.192308	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.935198	0.52866	.	.	ENSG00000136997	ENST00000259523;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T	0.18174	2.23;2.23;2.23	4.78	3.89	0.44902	Transcription regulator Myc, N-terminal (1);	0.540883	0.20177	N	0.097620	T	0.35008	0.0917	L	0.57536	1.79	0.32900	D	0.512998	D	0.58970	0.984	P	0.62491	0.903	T	0.50642	-0.8804	10	0.62326	D	0.03	-20.4131	14.2765	0.66184	0.0:0.1501:0.8499:0.0	.	175	P01106	MYC_HUMAN	N	175;190;189;156	ENSP00000259523:S175N;ENSP00000367207:S190N;ENSP00000430235:S189N	ENSP00000259523:S175N	S	+	2	0	MYC	128820214	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	5.074000	0.64401	1.102000	0.41551	0.561000	0.74099	AGC	.	.	none		0.667	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			A	128751032	G	A	128751032	3	1	4	1	0	0	0	0	1	0	0	0	10016	971	34	2	575	2	MYC	8	128751032	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	23487124	128751032	17612990	126	987										
FANCG	2189	hgsc.bcm.edu	37	chr9	35077020	35077020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acacctggaccaacacaggcCgtggacacaggcctgaggcc	12	15	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:35077020C>T	ENST00000378643.3	-	6	1216	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	242					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAACACAGGCCGTGGACACAG	0.552			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																													p.R242Q		Atlas-SNP	.	yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	.	FANCG	56	.	0			c.G725A						PASS	.						88	92	91					9																	35077020		2203	4300	6503	SO:0001583	missense	2189	exon6			ACAGGCCGTGGAC	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.725G>A	9.37:g.35077020C>T	ENSP00000367910:p.Arg242Gln	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	80	19	0.2375	NM_004629		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152449	0.38021	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.37235	1.21	6.07	3.23	0.37069	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.18467	0.0443	L	0.27053	0.805	0.09310	N	0.999999	P	0.36438	0.553	B	0.20955	0.032	T	0.10800	-1.0614	9	0.26408	T	0.33	-8.4425	6.3483	0.21361	0.0:0.6801:0.1565:0.1633	.	242	O15287	FANCG_HUMAN	Q	242	ENSP00000367910:R242Q	ENSP00000367910:R242Q	R	-	2	0	FANCG	35067020	0.334000	0.24739	0.327000	0.25402	0.992000	0.81027	0.672000	0.25187	0.442000	0.26555	0.655000	0.94253	CGG	.	.	none		0.552	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		T	35077020	C	T	35077020	3	4	4	1	0	0	0	0	1	0	0	0	5668	652	23	1	1179	1	FANCG	9	35077020	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		35077020	106136411	127	988										
PAX5	5079	hgsc.bcm.edu	37	chr9	37002696	37002696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gctgggggacgtgatgcccaGgatgccgctgatggagtacg	18	9	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:37002696G>C	ENST00000358127.4	-	5	627	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	PAX5_ENST00000377847.2_Missense_Mutation_p.L185V|PAX5_ENST00000414447.1_Intron|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000377853.2_Missense_Mutation_p.L185V|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.L77V|PAX5_ENST00000520154.1_Missense_Mutation_p.L185V|PAX5_ENST00000523145.1_Missense_Mutation_p.L77V|PAX5_ENST00000523241.1_Missense_Mutation_p.L185V|PAX5_ENST00000377852.2_Missense_Mutation_p.L185V|PAX5_ENST00000446742.1_Missense_Mutation_p.L119V	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	185					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGATGCCCAGGATGCCGCTG	0.672			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																p.L185V		Atlas-SNP	.		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	.	PAX5	250	.	40	Unknown(40)	haematopoietic_and_lymphoid_tissue(40)	c.C553G						PASS	.						48	37	41					9																	37002696		2201	4296	6497	SO:0001583	missense	5079	exon5			TGCCCAGGATGCC		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.553C>G	9.37:g.37002696G>C	ENSP00000350844:p.Leu185Val	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	159	32	0.201258	NM_016734	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077844	0.55753	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847	D;D;D;D;D;D;D;D;D	0.98164	-4.26;-4.27;-4.26;-4.76;-4.73;-4.37;-2.1;-2.68;-4.75	5.15	5.15	0.70609	.	0.369945	0.24325	N	0.039514	D	0.98767	0.9585	M	0.83012	2.62	0.50313	D	0.999869	D;P;B;D;D;P;P	0.65815	0.989;0.956;0.213;0.995;0.993;0.956;0.956	D;P;B;P;D;P;P	0.72338	0.977;0.899;0.222;0.885;0.952;0.899;0.899	D	0.98703	1.0701	10	0.44086	T	0.13	.	13.3201	0.60428	0.0769:0.0:0.9231:0.0	.	119;185;185;185;185;185;185	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	V	185;77;185;185;185;185;119;77;77;185	ENSP00000350844:L185V;ENSP00000367084:L185V;ENSP00000367083:L185V;ENSP00000429637:L185V;ENSP00000429291:L185V;ENSP00000404687:L119V;ENSP00000429359:L77V;ENSP00000429197:L77V;ENSP00000367078:L185V	ENSP00000350844:L185V	L	-	1	2	PAX5	36992696	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.768000	0.68858	2.553000	0.86117	0.555000	0.69702	CTG	.	.	none		0.672	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			C	37002696	G	C	37002696	3	2	4	1	0	0	0	0	1	0	0	0	11482	991	35	4	646	4	PAX5	9	37002696	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1925676	37002696	104210735	128	989										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77400960	77400960	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agctgaaaacaggccaatggCcacagtttctgttaagttcc	9	10	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:77400960C>G	ENST00000360774.1	-	21	2986	c.2749G>C	c.(2749-2751)Gcc>Ccc	p.A917P	TRPM6_ENST00000376864.4_Missense_Mutation_p.A917P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A912P|TRPM6_ENST00000361255.3_Missense_Mutation_p.A912P|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.A917P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	917					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						AGGCCAATGGCCACAGTTTCT	0.448																																					p.A917P		Atlas-SNP	.											TRPM6_ENST00000451710,axilla,malignant_melanoma,+1,2	TRPM6	377	2	0			c.G2749C						PASS	.						178	163	168					9																	77400960		2203	4300	6503	SO:0001583	missense	140803	exon21			CAATGGCCACAGT	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.2749G>C	9.37:g.77400960C>G	ENSP00000354006:p.Ala917Pro	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	132	27	0.204545	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648930	0.67358	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.14	5.14	0.70334	Ion transport (1);	0.144833	0.64402	D	0.000008	D	0.87771	0.6261	M	0.91612	3.225	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.994;0.988;0.99	D	0.90238	0.4284	10	0.87932	D	0	.	18.7871	0.91960	0.0:1.0:0.0:0.0	.	580;917;912	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	P	917;917;912;912;917;580;580	ENSP00000354006:A917P;ENSP00000407341:A917P;ENSP00000396672:A912P;ENSP00000354962:A912P;ENSP00000366060:A917P	ENSP00000309693:A580P	A	-	1	0	TRPM6	76590780	1.000000	0.71417	0.999000	0.59377	0.077000	0.17291	7.602000	0.82796	2.669000	0.90835	0.549000	0.68633	GCC	.	.	none		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77400960	C	G	77400960	3	3	4	1	0	0	0	0	1	0	0	0	16587	739	26	4	3395	4	TRPM6	9	77400960	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	40398264	77400960	63812471	129	990										
NINJ1	4814	hgsc.bcm.edu	37	chr9	95887259	95887259	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgatgaagatgttgactacCacgatgatgaacaccaggcc	11	9	0	6			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:95887259C>A	ENST00000375446.4	-	3	460	c.390G>T	c.(388-390)gtG>gtT	p.V130V	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	130					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TGTTGACTACCACGATGATGA	0.597																																					p.V130V		Atlas-SNP	.											.	NINJ1	7	.	0			c.G390T						PASS	.						158	130	139					9																	95887259		2203	4300	6503	SO:0001819	synonymous_variant	4814	exon3			GACTACCACGATG	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.390G>T	9.37:g.95887259C>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	54	10	0.185185	NM_004148	Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	CCDS6703.1																																																																																			.	.	none		0.597	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		A	95887259	C	A	95887259	2	1	4	1	0	0	0	0	0	0	0	1	10418	581	21	4		4	NINJ1	9	95887259	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	18486299	95887259	45326172	130	991										
ZNF367	195828	hgsc.bcm.edu	37	chr9	99180102	99180102	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgtgcgttctcgccccagcgCcacgggtacaccatgaagtc	11	15	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:99180102C>T	ENST00000375256.4	-	1	509	c.213G>A	c.(211-213)tgG>tgA	p.W71*		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	71					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)				CGCCCCAGCGCCACGGGTACA	0.756																																					p.W71X		Atlas-SNP	.											.	ZNF367	27	.	0			c.G213A						PASS	.						6	7	7					9																	99180102		2098	4155	6253	SO:0001587	stop_gained	195828	exon1			CCAGCGCCACGGG	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.213G>A	9.37:g.99180102C>T	ENSP00000364405:p.Trp71*	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	46	6	0.130435	NM_153695	Q6Q7C8	Nonsense_Mutation	SNP	ENST00000375256.4	37	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	40	8.166298	0.98686	.	.	ENSG00000165244	ENST00000375256	.	.	.	3.45	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4595	15.072	0.72046	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000364405:W71X	W	-	3	0	ZNF367	98219923	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.458000	0.73509	1.758000	0.51981	0.313000	0.20887	TGG	.	.	none		0.756	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			T	99180102	C	T	99180102	4	4	4	1	0	0	0	0	0	1	0	0	17868	740	26	2	859	2	ZNF367	9	99180102	Nonsense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	3292843	99180102	42033329	131	992										
ANKS6	203286	hgsc.bcm.edu	37	chr9	101518730	101518730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgatggtgccactgctggaGcccccactgctcttggactg	13	13	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:101518730G>T	ENST00000353234.4	-	12	2345	c.2298C>A	c.(2296-2298)ggC>ggA	p.G766G	ANKS6_ENST00000375018.1_Silent_p.G767G|ANKS6_ENST00000375019.2_Silent_p.G465G|ANKS6_ENST00000540940.1_Silent_p.G571G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	766	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CACTGCTGGAGCCCCCACTGC	0.602																																					p.G766G		Atlas-SNP	.											.	ANKS6	59	.	0			c.C2298A						PASS	.						83	84	83					9																	101518730		2056	4201	6257	SO:0001819	synonymous_variant	203286	exon12			GCTGGAGCCCCCA	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2298C>A	9.37:g.101518730G>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.169977	0.21621	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.27	2.18	0.27775	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37103	-0.9720	4	.	.	.	-27.5593	3.861	0.08996	0.2675:0.0:0.5604:0.1721	.	.	.	.	I	236	.	.	L	-	1	0	ANKS6	100558551	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.132000	0.31418	1.239000	0.43787	0.484000	0.47621	CTC	.	.	none		0.602	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		T	101518730	G	T	101518730	2	4	4	1	0	0	0	0	0	0	0	1	692	958	34	4		4	ANKS6	9	101518730	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2338628	101518730	39694701	132	993										
IER5L	389792	hgsc.bcm.edu	37	chr9	131940019	131940019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagctggtgccgggcggccgGctcgcgcgcctccgcgtccc	16	19	0	0	rs184457	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr9:131940019G>A	ENST00000372491.2	-	1	521	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	105	Gln-rich.		P -> S (in dbSNP:rs184457). {ECO:0000269|PubMed:15489334}.										Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		cgGGCGGCCGGCTCGCGCGCC	0.771													g|||	926	0.184904	0.0855	0.1859	5008	,	,		4977	0.1567		0.2783	False		,,,				2504	0.2515				p.P105S		Atlas-SNP	.											.	IER5L	4	.	0			c.C313T						PASS	.						1	1	1					9																	131940019		635	1317	1952	SO:0001583	missense	389792	exon1			CGGCCGGCTCGCG	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.313C>T	9.37:g.131940019G>A	ENSP00000361569:p.Pro105Ser	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	6	5	0.833333	NM_203434	Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	37	CCDS43888.1	447	0.20467032967032966	67	0.13617886178861788	70	0.19337016574585636	90	0.15734265734265734	220	0.29023746701846964	G	15.79	2.937521	0.52972	.	.	ENSG00000188483	ENST00000372491	T	0.41400	1.0	3.39	3.39	0.38822	.	1.136290	0.06835	U	0.794746	T	0.00012	0.0000	N	0.14661	0.345	0.41388	P	0.012405	B	0.29301	0.241	B	0.28916	0.096	T	0.19976	-1.0289	9	0.45353	T	0.12	-3.5623	12.3275	0.55020	0.0:0.0:1.0:0.0	rs184457;rs639957;rs17855889	105	Q5T953	IER5L_HUMAN	S	105	ENSP00000361569:P105S	ENSP00000361569:P105S	P	-	1	0	IER5L	130979840	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	3.495000	0.53280	1.737000	0.51674	0.298000	0.19748	CCG	G|0.700;A|0.300	0.300	strong		0.771	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			A	131940019	G	A	131940019	3	1	4	1	0	0	0	0	1	0	0	0	7509	1203	42	2	905	2	IER5L	9	131940019	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	30421289	131940019	9273412	133	994										
TUBB8	347688	hgsc.bcm.edu	37	chr10	93797	93797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggcgttgtagggctccaccaCggtgtccgacaccttgggcg	15	13	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:93797C>T	ENST00000309812.4	-	4	597	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.V107M|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522																																					p.V179M	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,NS,carcinoma,0,1	TUBB8	62	1	0			c.G535A						scavenged	.																																			SO:0001583	missense	347688	exon4			CCACCACGGTGTC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.535G>A	10.37:g.93797C>T	ENSP00000311042:p.Val179Met	Somatic	82	3	0.0365854		WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_177987	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71222	-0.55	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000086	D	0.85080	0.5615	H	0.96489	3.83	0.34080	D	0.659493	P;D	0.89917	0.478;1.0	B;D	0.69479	0.038;0.964	D	0.85106	0.0960	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	142;179	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	107;145;142;179	ENSP00000403895:V107M	ENSP00000272035:V145M	V	-	1	0	RP11-631M21.2	83797	0.998000	0.40836	0.272000	0.24630	0.274000	0.26718	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GTG	T|1.000;|0.000	1.000	weak		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	93797	C	T	93797	3	4	4	1	0	0	0	0	1	0	0	0	16758	536	19	1	803	1	TUBB8	10	93797	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		93797	135440950	134	995										
IL2RA	3559	hgsc.bcm.edu	37	chr10	6104051	6104051	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gggcacccacaggcccttacCtgcctggcagccaggcacca	11	18	0	0	rs267602536		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:6104051C>T	ENST00000379959.3	-	1	237	c.64G>A	c.(64-66)Gag>Aag	p.E22K	IL2RA_ENST00000379954.1_Splice_Site_p.E22K|IL2RA_ENST00000256876.6_Splice_Site_p.E22K	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	22	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGCCCTTACCTGCCTGGCAG	0.612																																					p.E22K		Atlas-SNP	.											.	IL2RA	37	.	0			c.G64A						PASS	.						65	63	64					10																	6104051		2203	4300	6503	SO:0001630	splice_region_variant	3559	exon1			CCTTACCTGCCTG	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.64+1G>A	10.37:g.6104051C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	93	16	0.172043	NM_000417	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805459	0.70682	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.52526	1.26;0.66;1.32	5.24	5.24	0.73138	Complement control module (1);Sushi/SCR/CCP (1);	0.606025	0.15011	N	0.285558	T	0.52629	0.1746	L	0.58101	1.795	0.43462	D	0.995663	D;P	0.54047	0.964;0.956	P;P	0.48270	0.538;0.572	T	0.51052	-0.8754	9	.	.	.	-19.9974	14.3538	0.66722	0.0:1.0:0.0:0.0	.	22;22	Q5W005;P01589	.;IL2RA_HUMAN	K	22;8;22;22	ENSP00000369293:E22K;ENSP00000369287:E22K;ENSP00000256876:E22K	.	E	-	1	0	IL2RA	6144057	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	1.983000	0.40648	2.436000	0.82500	0.563000	0.77884	GAG	.	.	none		0.612	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	Missense_Mutation	T	6104051	C	T	6104051	5	4	4	1	0	0	0	0	0	0	1	0	7686	695	24	2	786	2	IL2RA	10	6104051	Splice_Site	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	6010254	6104051	129430696	135	996										
CUBN	8029	hgsc.bcm.edu	37	chr10	16883024	16883024	+	Frame_Shift_Del	DEL	T	T	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acgttccagccaagttcgcaTtttcactatccccatcatat							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:16883024delT	ENST00000377833.4	-	61	9751	c.9686delA	c.(9685-9687)aatfs	p.N3229fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3229	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGTTCGCATTTTCACTATC	0.363																																					p.N3229fs		Atlas-Indel	.											.	CUBN	515	.	0			c.9687delT						PASS	.						84	76	78					10																	16883024		2203	4300	6503	SO:0001589	frameshift_variant	8029	exon61			.	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9686delA	10.37:g.16883024delT	ENSP00000367064:p.Asn3229fs	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	75	10	0.133333	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	CCDS7113.1																																																																																			.	.	none		0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		-	16883024	T	-	16883024	7	5	4	1	0	1	0	1	0	0	0	0	4051	1493	52	0	1213	0	CUBN	10	16883024	Frame_Shift_Del	DEL	T	TCGA-FA-A6HN-01A-11D-A31X-10	10778973	16883024	118651723	136	997										
ARHGAP21	57584	hgsc.bcm.edu	37	chr10	24909112	24909112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccactcctctaccactcattCgcctgttatcagaattaaca	3	15	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:24909112C>T	ENST00000396432.2	-	9	2198	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R358Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	570					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACCACTCATTCGCCTGTTATC	0.393																																					p.R571Q		Atlas-SNP	.											.	ARHGAP21	185	.	0			c.G1712A						PASS	.						74	75	75					10																	24909112		2203	4300	6503	SO:0001583	missense	57584	exon9			CTCATTCGCCTGT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1712G>A	10.37:g.24909112C>T	ENSP00000379709:p.Arg571Gln	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	87	20	0.229885	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	c	11.85	1.760900	0.31137	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.54675	2.52;2.63;0.56;0.58	5.5	4.6	0.57074	.	0.207171	0.40064	N	0.001187	T	0.62527	0.2435	M	0.70595	2.14	0.09310	N	0.999999	D;D	0.76494	0.981;0.999	B;P	0.57960	0.405;0.83	T	0.55354	-0.8154	10	0.23891	T	0.37	.	10.5329	0.44988	0.1326:0.7983:0.0:0.0691	.	561;570	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Q	571;560;358;561;571;406	ENSP00000379709:R571Q;ENSP00000365604:R358Q;ENSP00000365592:R561Q;ENSP00000405018:R571Q	ENSP00000365604:R358Q	R	-	2	0	ARHGAP21	24949118	0.989000	0.36119	0.027000	0.17364	0.013000	0.08279	3.061000	0.49963	1.464000	0.47987	-0.127000	0.14921	CGA	.	.	none		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24909112	C	T	24909112	3	4	4	1	0	0	0	0	1	0	0	0	871	884	31	1	4236	1	ARHGAP21	10	24909112	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	8026088	24909112	110625635	137	998										
PARD3	56288	hgsc.bcm.edu	37	chr10	34626206	34626206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atggagattgtactcactacCtaaatccatgctttttgatt	6	8	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:34626206C>T	ENST00000374789.3	-	17	2891	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S	PARD3_ENST00000346874.4_Missense_Mutation_p.G856S|PARD3_ENST00000374794.3_Missense_Mutation_p.G796S|PARD3_ENST00000374773.1_Intron|PARD3_ENST00000340077.5_Missense_Mutation_p.G853S|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000374776.1_Intron|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000544292.1_Splice_Site_p.V570I|PARD3_ENST00000545693.1_Missense_Mutation_p.G840S|PARD3_ENST00000374788.3_Missense_Mutation_p.G853S|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374790.3_Missense_Mutation_p.G796S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	856	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TACTCACTACCTAAATCCATG	0.343																																					p.G856S		Atlas-SNP	.											.	PARD3	131	.	0			c.G2566A						PASS	.						96	87	90					10																	34626206		2203	4298	6501	SO:0001583	missense	56288	exon17			CACTACCTAAATC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2566G>A	10.37:g.34626206C>T	ENSP00000363921:p.Gly856Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	62	10	0.16129	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415053|4.415053	0.83449|0.83449	.|.	.|.	ENSG00000148498|ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000374790;ENST00000340077|ENST00000544292	T;T;T;T;T;T;T|T	0.28666|0.29917	1.73;1.73;1.73;1.73;1.6;1.73;1.73|1.55	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.130941|.	0.49305|.	D|.	0.000158|.	T|T	0.26376|0.26376	0.0644|0.0644	L|L	0.29908|0.29908	0.895|0.895	0.32905|0.32905	D|D	0.513695|0.513695	D;D;P;D;D;P;D|B	0.89917|0.02656	0.982;1.0;0.847;0.995;0.973;0.833;0.98|0.0	P;D;B;P;P;B;P|B	0.85130|0.06405	0.676;0.997;0.36;0.853;0.576;0.267;0.758|0.002	T|T	0.16600|0.16600	-1.0397|-1.0397	10|9	0.27082|0.15066	T|T	0.32|0.55	.|.	20.1237|20.1237	0.97972|0.97972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	796;840;856;853;856;840;853|570	Q8TEW0-5;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q6IQ47;Q8TEW0-8|F5GZI3	.;.;.;.;PARD3_HUMAN;.;.|.	S|I	840;856;853;856;796;796;853|570	ENSP00000443147:G840S;ENSP00000363921:G856S;ENSP00000363920:G853S;ENSP00000340591:G856S;ENSP00000363926:G796S;ENSP00000363922:G796S;ENSP00000341844:G853S|ENSP00000444429:V570I	ENSP00000341844:G853S|ENSP00000444429:V570I	G|V	-|-	1|1	0|0	PARD3|PARD3	34666212|34666212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.089000|6.089000	0.71384|0.71384	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GGT|GTA	.	.	none		0.343	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		T	34626206	C	T	34626206	3	4	4	1	0	0	0	0	1	0	0	0	11443	681	24	2	1575	2	PARD3	10	34626206	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	9717094	34626206	100908541	138	999										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55698632	55698632	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagggaatcagcttggactcGaagtacatagcttgtcctgg	12	9	1	0	rs202033121		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:55698632G>A	ENST00000320301.6	-	25	3710	c.3316C>T	c.(3316-3318)Cga>Tga	p.R1106*	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R1113*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R1106*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R1111*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.R1113*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R1069*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R1035*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R1084*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R1106*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R1106*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.R717*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1106	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTGGACTCGAAGTACATAG	0.373										HNSCC(58;0.16)																											p.R1111X		Atlas-SNP	.											PCDH15_ENST00000417177,NS,malignant_melanoma,0,8	PCDH15	1715	8	0			c.C3331T						PASS	.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	119	110	113		3331,3316,3103,3316,3205,3250,3352,3316,3331,3316,3250,3316	4.8	1	10		113	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,	1111/1963,1106/1958,1035/1887,1106/1953,1069/1916,1084/1936,1118/1791,1106/1540,1111/1683,1106/1678,1084/1933,1106/1956	55698632	1,13003	2203	4299	6502	SO:0001587	stop_gained	65217	exon26			GGACTCGAAGTAC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3316C>T	10.37:g.55698632G>A	ENSP00000322604:p.Arg1106*	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	43	10	0.232558	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	45	11.791944	0.99603	0.0	1.16E-4	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.77	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6969	0.57010	0.0:0.0:0.7007:0.2993	.	.	.	.	X	1113;1111;1106;1106;717;1113;1069;1106;1084;1106;1106;1111;1035	.	ENSP00000322604:R1106X	R	-	1	2	PCDH15	55368638	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	2.995000	0.49441	1.380000	0.46344	0.655000	0.94253	CGA	.	.	weak		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55698632	G	A	55698632	4	1	4	1	0	0	0	0	0	1	0	0	11511	1066	37	1	4206	1	PCDH15	10	55698632	Nonsense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	21072426	55698632	79836115	139	1000										
AIFM2	84883	hgsc.bcm.edu	37	chr10	71880315	71880315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgccatctccactccagccGagcctcctcccaccaccacg	5	23	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:71880315G>A	ENST00000307864.1	-	5	668	c.455C>T	c.(454-456)tCg>tTg	p.S152L	AIFM2_ENST00000373248.1_Missense_Mutation_p.S152L|AIFM2_ENST00000482166.1_5'Flank	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	152					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CACTCCAGCCGAGCCTCCTCC	0.522																																					p.S152L		Atlas-SNP	.											.	AIFM2	33	.	0			c.C455T						PASS	.						155	144	148					10																	71880315		2203	4300	6503	SO:0001583	missense	84883	exon5			CCAGCCGAGCCTC	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.455C>T	10.37:g.71880315G>A	ENSP00000312370:p.Ser152Leu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	50	7	0.14	NM_001198696	B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425664	0.96131	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.54675	0.56;0.56	5.05	5.05	0.67936	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.056297	0.64402	D	0.000001	T	0.39655	0.1086	N	0.10837	0.055	0.53688	D	0.99997	P	0.51653	0.947	P	0.44561	0.453	T	0.38415	-0.9662	10	0.38643	T	0.18	-14.083	18.2036	0.89847	0.0:0.0:1.0:0.0	.	152	Q9BRQ8	AIFM2_HUMAN	L	152;152;112	ENSP00000362345:S152L;ENSP00000312370:S152L	ENSP00000312370:S152L	S	-	2	0	AIFM2	71550321	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	8.832000	0.92079	2.645000	0.89757	0.655000	0.94253	TCG	.	.	none		0.522	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		A	71880315	G	A	71880315	3	1	4	1	0	0	0	0	1	0	0	0	427	1059	37	1	686	1	AIFM2	10	71880315	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	16181683	71880315	63654432	140	1001										
ANXA11	311	hgsc.bcm.edu	37	chr10	81930597	81930597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gttgaactgccccgcataggTggccacgttatccagcccga	11	14	0	1	rs539258237		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:81930597T>A	ENST00000438331.1	-	5	612	c.130A>T	c.(130-132)Acc>Tcc	p.T44S	ANXA11_ENST00000535999.1_Missense_Mutation_p.T44S|ANXA11_ENST00000537102.1_Missense_Mutation_p.T11S|ANXA11_ENST00000372231.3_Missense_Mutation_p.T44S|ANXA11_ENST00000265447.4_Missense_Mutation_p.T44S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.T44S|ANXA11_ENST00000360615.4_Missense_Mutation_p.T44S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	44					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCGCATAGGTGGCCACGTTA	0.632																																					p.T44S		Atlas-SNP	.											ANXA11,right_upper_lobe,carcinoma,0,1	ANXA11	32	1	0			c.A130T						scavenged	.						78	67	71					10																	81930597		2203	4300	6503	SO:0001583	missense	311	exon4			CATAGGTGGCCAC	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.130A>T	10.37:g.81930597T>A	ENSP00000398610:p.Thr44Ser	Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_145868	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544761	0.27563	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.01725	4.67;4.67;4.67;4.67;4.67;4.67;4.67	4.69	3.55	0.40652	.	2.338380	0.01769	N	0.031065	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31420	-0.9944	10	0.30078	T	0.28	.	8.0097	0.30347	0.0:0.0986:0.0:0.9014	.	144;44;44	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	44;44;44;44;44;44;44;11;44;44	ENSP00000361305:T44S;ENSP00000404412:T44S;ENSP00000398610:T44S;ENSP00000353827:T44S;ENSP00000265447:T44S;ENSP00000441748:T44S;ENSP00000441400:T11S	ENSP00000265447:T44S	T	-	1	0	ANXA11	81920577	0.998000	0.40836	0.969000	0.41365	0.033000	0.12548	1.684000	0.37649	1.886000	0.54624	0.364000	0.22116	ACC	.	.	none		0.632	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		A	81930597	T	A	81930597	3	1	4	1	0	0	0	0	1	0	0	0	716	1696	59	5	1439	5	ANXA11	10	81930597	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	10050282	81930597	53604150	141	1002										
LIPN	643418	hgsc.bcm.edu	37	chr10	90537944	90537944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgattttgtctggggcctcgAtgcccctcaacggatgtaca	11	11	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:90537944A>G	ENST00000404459.1	+	9	1142	c.1142A>G	c.(1141-1143)gAt>gGt	p.D381G		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	381					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGGGGCCTCGATGCCCCTCAA	0.418																																					p.D381G		Atlas-SNP	.											.	LIPN	28	.	0			c.A1142G						PASS	.						78	73	74					10																	90537944		1878	4099	5977	SO:0001583	missense	643418	exon9			GCCTCGATGCCCC		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.1142A>G	10.37:g.90537944A>G	ENSP00000383923:p.Asp381Gly	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	95	21	0.221053	NM_001102469	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464544	0.63513	.	.	ENSG00000204020	ENST00000404459	T	0.64618	-0.11	5.21	4.07	0.47477	Alpha/beta hydrolase fold-1 (1);	.	.	.	.	T	0.76499	0.3996	M	0.80028	2.48	0.33987	D	0.648718	D	0.89917	1.0	D	0.81914	0.995	T	0.82043	-0.0653	8	.	.	.	-23.3114	8.0083	0.30338	0.8345:0.0:0.1655:0.0	.	381	Q5VXI9	LIPN_HUMAN	G	381	ENSP00000383923:D381G	.	D	+	2	0	LIPN	90527924	1.000000	0.71417	0.951000	0.38953	0.983000	0.72400	4.688000	0.61715	1.114000	0.41781	0.523000	0.50628	GAT	.	.	none		0.418	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		G	90537944	A	G	90537944	3	3	4	1	0	0	0	0	1	0	0	0	8828	333	12	2	1176	2	LIPN	10	90537944	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	8607347	90537944	44996803	142	1003										
CEP55	55165	hgsc.bcm.edu	37	chr10	95276727	95276727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agaagcagaaatgttacaacGatctcttggcaagtgcaaaa	9	7	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:95276727G>T	ENST00000371485.3	+	6	1019	c.715G>T	c.(715-717)Gat>Tat	p.D239Y		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGTTACAACGATCTCTTGGC	0.333																																					p.D239Y		Atlas-SNP	.											CEP55,NS,carcinoma,0,2	CEP55	35	2	0			c.G715T						scavenged	.						66	68	67					10																	95276727		2203	4300	6503	SO:0001583	missense	55165	exon6			TACAACGATCTCT	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.715G>T	10.37:g.95276727G>T	ENSP00000360540:p.Asp239Tyr	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	160	2	0.0125	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662939	0.14710	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.18016	2.24	5.74	1.77	0.24775	.	0.521358	0.23369	N	0.048922	T	0.08582	0.0213	N	0.08118	0	0.21325	N	0.999727	B	0.22346	0.068	B	0.17433	0.018	T	0.26430	-1.0103	10	0.62326	D	0.03	-1.7292	9.9546	0.41660	0.3544:0.4011:0.2445:0.0	.	239	Q53EZ4	CEP55_HUMAN	Y	239	ENSP00000360540:D239Y	ENSP00000351102:D239Y	D	+	1	0	CEP55	95266717	0.392000	0.25229	0.258000	0.24420	0.341000	0.28922	0.789000	0.26886	0.065000	0.16485	-0.311000	0.09066	GAT	.	.	none		0.333	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		T	95276727	G	T	95276727	3	4	4	1	0	0	0	0	1	0	0	0	3255	1058	37	4	733	4	CEP55	10	95276727	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	4738783	95276727	40258020	143	1004										
NFKB2	4791	hgsc.bcm.edu	37	chr10	104157819	104157819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gggtggagatgaagtttatcTgctttgtgacaaggtgcaga	15	4	1	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:104157819T>A	ENST00000369966.3	+	9	993	c.743T>A	c.(742-744)cTg>cAg	p.L248Q	NFKB2_ENST00000189444.6_Missense_Mutation_p.L248Q|NFKB2_ENST00000428099.1_Missense_Mutation_p.L248Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	248	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAAGTTTATCTGCTTTGTGAC	0.517			T	IGH@	B-NHL																																p.L248Q		Atlas-SNP	.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2	48	.	0			c.T743A						PASS	.						119	120	120					10																	104157819		1979	4177	6156	SO:0001583	missense	4791	exon9			TTTATCTGCTTTG	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.743T>A	10.37:g.104157819T>A	ENSP00000358983:p.Leu248Gln	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	114	16	0.140351	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245955	0.80024	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.57752	0.38;0.38;0.38	5.21	5.21	0.72293	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84653	0.0702	10	0.87932	D	0	.	15.1176	0.72416	0.0:0.0:0.0:1.0	.	248;248;248	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	Q	248	ENSP00000410256:L248Q;ENSP00000358983:L248Q;ENSP00000189444:L248Q	ENSP00000189444:L248Q	L	+	2	0	NFKB2	104147809	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	1.972000	0.57404	0.459000	0.35465	CTG	.	.	none		0.517	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			A	104157819	T	A	104157819	3	1	4	1	0	0	0	0	1	0	0	0	10376	1580	55	5	773	5	NFKB2	10	104157819	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	8881092	104157819	31376928	144	1005										
C10orf79	80217	hgsc.bcm.edu	37	chr10	105923874	105923874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cctcatcttgcacaacaagcGttctctctggcttctcacag	6	15	5	0	rs146455280		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr10:105923874G>A	ENST00000357060.3	-	24	3339	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	WDR96_ENST00000428666.1_Missense_Mutation_p.T1076M	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACAACAAGCGTTCTCTCTGG	0.428																																					p.T1075M		Atlas-SNP	.											.	WDR96	183	.	0			c.C3224T						PASS	.						151	134	140					10																	105923874		2203	4300	6503	SO:0001583	missense	80217	exon24			ACAAGCGTTCTCT																												ENST00000357060.3:c.3224C>T	10.37:g.105923874G>A	ENSP00000349568:p.Thr1075Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	71	22	0.309859	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.355|4.355	0.065353|0.065353	0.08388|0.08388	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.13778	.|2.56;2.56	6.06|6.06	1.42|1.42	0.22433|0.22433	.|.	.|0.338170	.|0.28589	.|N	.|0.014819	T|T	0.07324|0.07324	0.0185|0.0185	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B	.|0.33171	.|0.241;0.4	.|B;B	.|0.25987	.|0.065;0.05	T|T	0.24440|0.24440	-1.0160|-1.0160	5|10	.|0.33141	.|T	.|0.24	.|.	3.9695|3.9695	0.09447|0.09447	0.1936:0.1251:0.5536:0.1277|0.1936:0.1251:0.5536:0.1277	.|.	.|1076;1075	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	C|M	436|1075;1076	.|ENSP00000349568:T1075M;ENSP00000400289:T1076M	.|ENSP00000349568:T1075M	R|T	-|-	1|2	0|0	WDR96|WDR96	105913864|105913864	0.781000|0.781000	0.28676|0.28676	0.590000|0.590000	0.28732|0.28732	0.048000|0.048000	0.14542|0.14542	1.142000|1.142000	0.31540|0.31540	0.894000|0.894000	0.36317|0.36317	-0.127000|-0.127000	0.14921|0.14921	CGC|ACG	G|1.000;T|0.000	.	alt		0.428	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	105923874	G	A	105923874	3	1	4	1	0	0	0	0	1	0	0	0	1618	1145	40	1	1833	1	C10orf79	10	105923874	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1766055	105923874	29610873	145	1006										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	303	53	0.174917		WXS	Illumina HiSeq	Phase_I	252	39	0.154762	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	4	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		1017068	133989448	146	1007										
MUC6	4588	hgsc.bcm.edu	37	chr11	1018511	1018511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gatggggttggataggtagtGgtggcatggaaagatgttgc	19	2	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:1018511G>A	ENST00000421673.2	-	31	4340	c.4290C>T	c.(4288-4290)acC>acT	p.T1430T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1430	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATAGGTAGTGGTGGCATGGA	0.572																																					p.T1430T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.C4290T						scavenged	.						295	292	293					11																	1018511		2173	4264	6437	SO:0001819	synonymous_variant	4588	exon31			GGTAGTGGTGGCA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4290C>T	11.37:g.1018511G>A		Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	143	2	0.013986	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018511	G	A	1018511	2	1	4	1	0	0	0	0	0	0	0	1	9980	1335	47	2		2	MUC6	11	1018511	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1443	1018511	133988005	147	1008										
KRTAP5-2	440021	hgsc.bcm.edu	37	chr11	1619234	1619234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccacagccccccttggagcCcccacaggagccacagctgg	11	19	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:1619234C>T	ENST00000412090.1	-	1	290	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	83	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCTTGGAGCCCCCACAGGAG	0.662																																					p.G83S		Atlas-SNP	.											.	KRTAP5-2	38	.	0			c.G247A						PASS	.						60	83	75					11																	1619234		2202	4297	6499	SO:0001583	missense	440021	exon1			TGGAGCCCCCACA	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.247G>A	11.37:g.1619234C>T	ENSP00000400041:p.Gly83Ser	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	102	19	0.186275	NM_001004325	A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.319352	0.41096	.	.	ENSG00000205867	ENST00000412090	T	0.00864	5.6	3.88	2.92	0.33932	.	.	.	.	.	T	0.00967	0.0032	L	0.33189	0.99	0.24258	N	0.995291	P	0.51791	0.948	B	0.41332	0.354	T	0.56360	-0.7992	9	0.23891	T	0.37	.	8.6816	0.34212	0.2552:0.7448:0.0:0.0	.	83	Q701N4	KRA52_HUMAN	S	83	ENSP00000400041:G83S	ENSP00000400041:G83S	G	-	1	0	KRTAP5-2	1575810	0.042000	0.20092	0.984000	0.44739	0.843000	0.47879	0.460000	0.21924	0.712000	0.32039	0.447000	0.29281	GGC	.	.	none		0.662	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		T	1619234	C	T	1619234	3	4	4	1	0	0	0	0	1	0	0	0	8561	623	22	2	290	2	KRTAP5-2	11	1619234	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	600723	1619234	133387282	148	1009										
KRTAP5-3	387266	hgsc.bcm.edu	37	chr11	1629430	1629431	+	Frame_Shift_Ins	INS	-	-	C													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agccacagacccccttggagINScccccacaggagccacagct							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:1629430_1629431insC	ENST00000399685.1	-	1	262_263	c.185_186insG	c.(184-186)ggcfs	p.G62fs		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	62	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCTTGGAGCCCCCACAGGA	0.678																																					p.G62fs		Atlas-Indel	.											.	KRTAP5-3	33	.	0			c.186_187insG						PASS	.																																			SO:0001589	frameshift_variant	387266	exon1			.	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.186dupG	11.37:g.1629435_1629435dupC	ENSP00000382592:p.Gly62fs	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	136	25	0.183824	NM_001012708	Q6PL44|Q701N3	Frame_Shift_Ins	INS	ENST00000399685.1	37	CCDS41591.1																																																																																			.	.	none		0.678	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			C	1629431	-	C	1629430	7	5	4	1	0	1	1	0	0	0	0	0	8562	958	34	0	534	0	KRTAP5-3	11	1629430	Frame_Shift_Ins	INS	-	TCGA-FA-A6HN-01A-11D-A31X-10	10196	1629430	133377086	149	1010										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	99	2	0.020202		WXS	Illumina HiSeq	Phase_I	108	9	0.0833333	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	4	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	2978963	4608393	130398123	150	1011										
OR51G2	81282	hgsc.bcm.edu	37	chr11	4936072	4936072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgaccacctggaccaggtgGggtgcctgctttccaaagcg	13	12	0	1	rs199760109		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:4936072G>A	ENST00000322013.3	-	1	850	c.822C>T	c.(820-822)ccC>ccT	p.P274P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAGGTGGGGTGCCTGCT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21041	0.001		0.0	False		,,,				2504	0.0				p.P274P		Atlas-SNP	.											.	OR51G2	70	.	0			c.C822T						PASS	.						111	100	104					11																	4936072		2201	4298	6499	SO:0001819	synonymous_variant	81282	exon1			CAGGTGGGGTGCC	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.822C>T	11.37:g.4936072G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	79	22	0.278481	NM_001005238	Q6IFH7	Silent	SNP	ENST00000322013.3	37	CCDS31365.1																																																																																			G|1.000;A|0.000	0.000	strong		0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		A	4936072	G	A	4936072	2	1	4	1	0	0	0	0	0	0	0	1	11099	1219	43	2		2	OR51G2	11	4936072	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	327679	4936072	130070444	151	1012										
OR51M1	390059	hgsc.bcm.edu	37	chr11	5410941	5410941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggtttaactcccatagtatcTactttggagcgtgtcaaatc	8	9	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:5410941T>C	ENST00000328611.3	+	1	335	c.313T>C	c.(313-315)Tac>Cac	p.Y105H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	105					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAGTATCTACTTTGGAGC	0.502																																					p.Y105H		Atlas-SNP	.											.	OR51M1	60	.	0			c.T313C						PASS	.						195	184	188					11																	5410941		2001	4189	6190	SO:0001583	missense	390059	exon1			AGTATCTACTTTG	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.313T>C	11.37:g.5410941T>C	ENSP00000333196:p.Tyr105His	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	41	8	0.195122	NM_001004756	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	5.448	0.267790	0.10349	.	.	ENSG00000184698	ENST00000328611	T	0.37411	1.2	5.15	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.269998	0.19621	U	0.109920	T	0.24236	0.0587	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18366	-1.0339	10	0.66056	D	0.02	.	5.5623	0.17150	0.1898:0.0899:0.0:0.7204	.	94	Q9H341	O51M1_HUMAN	H	105	ENSP00000333196:Y105H	ENSP00000333196:Y105H	Y	+	1	0	OR51M1	5367517	0.000000	0.05858	0.767000	0.31495	0.054000	0.15201	-0.695000	0.05109	0.995000	0.38917	0.528000	0.53228	TAC	.	.	none		0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		C	5410941	T	C	5410941	3	2	4	1	0	0	0	0	1	0	0	0	11103	1522	53	3	315	3	OR51M1	11	5410941	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	474869	5410941	129595575	152	1013										
LYVE1	10894	hgsc.bcm.edu	37	chr11	10580685	10580685	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcagcttccaggcatcgcacGgtagttttgcttggactctt	10	11	2	0	rs553314813		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:10580685G>T	ENST00000256178.3	-	6	1100	c.942C>A	c.(940-942)acC>acA	p.T314T	LYVE1_ENST00000529598.1_Silent_p.T210T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_5'Flank	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	314					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T314T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463																																					p.T314T		Atlas-SNP	.											LYVE1,brain,glioma,0,1	LYVE1	19	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C942A						scavenged	.						297	273	281					11																	10580685		2201	4294	6495	SO:0001819	synonymous_variant	10894	exon6			TCGCACGGTAGTT	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"extracellular link domain containing 1"	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.942C>A	11.37:g.10580685G>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_006691	Q8TC18|Q9UNF4	Silent	SNP	ENST00000256178.3	37	CCDS7804.1																																																																																			.	.	none		0.463	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		T	10580685	G	T	10580685	2	4	4	1	0	0	0	0	0	0	0	1	9129	1103	39	4		4	LYVE1	11	10580685	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	5169744	10580685	124425831	153	1014										
PIK3C2A	5286	hgsc.bcm.edu	37	chr11	17167456	17167456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttctatttgatacaggtgttTgtttaaatccacgggtgttt	9	5	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:17167456T>G	ENST00000265970.7	-	6	1593	c.1594A>C	c.(1594-1596)Aaa>Caa	p.K532Q	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.K152Q|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	532					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TACAGGTGTTTGTTTAAATCC	0.333																																					p.K532Q		Atlas-SNP	.											.	PIK3C2A	148	.	0			c.A1594C						PASS	.						133	141	138					11																	17167456		2200	4293	6493	SO:0001583	missense	5286	exon6			GGTGTTTGTTTAA	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1594A>C	11.37:g.17167456T>G	ENSP00000265970:p.Lys532Gln	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	75	15	0.2	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099125	0.56183	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.63744	-0.06;0.37	5.32	5.32	0.75619	.	0.091731	0.64402	D	0.000001	T	0.75213	0.3819	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.71368	-0.4614	10	0.14656	T	0.56	-12.0604	15.5669	0.76300	0.0:0.0:0.0:1.0	.	532;532	F5H5W9;O00443	.;P3C2A_HUMAN	Q	532;152;532	ENSP00000265970:K532Q;ENSP00000438687:K152Q	ENSP00000265970:K532Q	K	-	1	0	PIK3C2A	17124032	1.000000	0.71417	0.997000	0.53966	0.601000	0.36947	5.361000	0.66092	2.140000	0.66376	0.482000	0.46254	AAA	.	.	none		0.333	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17167456	T	G	17167456	3	3	4	1	0	0	0	0	1	0	0	0	11909	1821	63	5	3574	5	PIK3C2A	11	17167456	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	6586771	17167456	117839060	154	1015										
TMEM132A	54972	hgsc.bcm.edu	37	chr11	60699343	60699343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcgggacatcagagcccttaTcccactggccaaggtaagga	12	12	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:60699343T>C	ENST00000453848.2	+	6	1357	c.1199T>C	c.(1198-1200)aTc>aCc	p.I400T	TMEM132A_ENST00000005286.4_Missense_Mutation_p.I401T			Q24JP5	T132A_HUMAN	transmembrane protein 132A	400						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGAGCCCTTATCCCACTGGCC	0.622																																					p.I401T		Atlas-SNP	.											.	TMEM132A	135	.	0			c.T1202C						PASS	.						78	79	79					11																	60699343		2203	4299	6502	SO:0001583	missense	54972	exon6			CCCTTATCCCACT	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1199T>C	11.37:g.60699343T>C	ENSP00000405823:p.Ile400Thr	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	104	20	0.192308	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125456	0.37533	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.16457	2.34;2.34	4.61	4.61	0.57282	.	0.392434	0.20638	N	0.088449	T	0.15478	0.0373	L	0.42245	1.32	0.32827	D	0.503569	B;P;B;B	0.35272	0.417;0.493;0.277;0.277	B;B;B;B	0.28011	0.085;0.085;0.053;0.053	T	0.19910	-1.0291	10	0.87932	D	0	.	14.0171	0.64531	0.0:0.0:0.0:1.0	.	389;151;400;401	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	T	151;400;401	ENSP00000405823:I400T;ENSP00000005286:I401T	ENSP00000005286:I401T	I	+	2	0	TMEM132A	60455919	0.622000	0.27085	0.808000	0.32385	0.726000	0.41606	3.959000	0.56744	1.859000	0.53934	0.374000	0.22700	ATC	.	.	none		0.622	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		C	60699343	T	C	60699343	3	2	4	1	0	0	0	0	1	0	0	0	16042	1435	50	2	1224	2	TMEM132A	11	60699343	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	43531887	60699343	74307173	155	1016										
EHD1	10938	hgsc.bcm.edu	37	chr11	64645661	64645661	+	Frame_Shift_Del	DEL	G	G	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcgatgaaggagtcggtggtGggctcgggcccgatgcgcat							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:64645661delG	ENST00000320631.3	-	1	530	c.276delC	c.(274-276)cccfs	p.P92fs	EHD1_ENST00000359393.2_Frame_Shift_Del_p.P92fs	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	92	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCGGTGGTGGGCTCGGGCC	0.682																																					p.T93fs		Atlas-Indel	.											.	EHD1	31	.	0			c.277delA						PASS	.						98	76	83					11																	64645661		2201	4297	6498	SO:0001589	frameshift_variant	10938	exon1			.	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.276delC	11.37:g.64645661delG	ENSP00000320516:p.Pro92fs	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	67	12	0.179104	NM_006795	O14611|Q2M3Q4|Q9UNR3	Frame_Shift_Del	DEL	ENST00000320631.3	37	CCDS8084.1																																																																																			.	.	none		0.682	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		-	64645661	G	-	64645661	7	5	4	1	0	1	0	1	0	0	0	0	4977	1335	47	0	1348	0	EHD1	11	64645661	Frame_Shift_Del	DEL	G	TCGA-FA-A6HN-01A-11D-A31X-10	3946318	64645661	70360855	156	1017										
SIPA1	6494	hgsc.bcm.edu	37	chr11	65416900	65416900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tccagggcctggggatctggCcgaggagaggactgagttcc	17	10	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:65416900C>T	ENST00000394224.3	+	10	2770	c.2474C>T	c.(2473-2475)gCc>gTc	p.A825V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A723V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A723V|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.A825V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	825					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGGGATCTGGCCGAGGAGAGG	0.637																																					p.A825V		Atlas-SNP	.											.	SIPA1	45	.	0			c.C2474T						PASS	.						41	36	38					11																	65416900		2197	4292	6489	SO:0001583	missense	6494	exon10			ATCTGGCCGAGGA	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2474C>T	11.37:g.65416900C>T	ENSP00000377771:p.Ala825Val	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	59	12	0.20339	NM_006747	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728042	0.48833	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82344	-1.6;-1.59;-1.6;-1.59	4.77	3.86	0.44501	.	1.724340	0.04463	N	0.374696	T	0.75583	0.3869	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.59375	-0.7466	10	0.33940	T	0.23	-1.6822	9.3108	0.37903	0.0:0.899:0.0:0.101	.	723;825	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	825;723;825;723	ENSP00000436269:A825V;ENSP00000433686:A723V;ENSP00000377771:A825V;ENSP00000377774:A723V	ENSP00000377771:A825V	A	+	2	0	SIPA1	65173476	0.672000	0.27530	0.445000	0.26908	0.419000	0.31324	1.953000	0.40352	1.152000	0.42452	0.462000	0.41574	GCC	.	.	none		0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		T	65416900	C	T	65416900	3	4	4	1	0	0	0	0	1	0	0	0	14328	739	26	2	2508	2	SIPA1	11	65416900	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	771239	65416900	69589616	157	1018										
TMEM135	65084	hgsc.bcm.edu	37	chr11	87024484	87024484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tagggtactagttgcttcctGcgctggatcagaaacttaga	11	8	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:87024484G>A	ENST00000305494.5	+	11	993	c.954G>A	c.(952-954)ctG>ctA	p.L318L	TMEM135_ENST00000340353.7_Silent_p.L296L|TMEM135_ENST00000535167.1_Silent_p.L179L|TMEM135_ENST00000532959.1_Silent_p.L189L	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	318					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTGCTTCCTGCGCTGGATCA	0.289																																					p.L318L		Atlas-SNP	.											.	TMEM135	40	.	0			c.G954A						PASS	.						94	97	96					11																	87024484		2201	4297	6498	SO:0001819	synonymous_variant	65084	exon11			CTTCCTGCGCTGG	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.954G>A	11.37:g.87024484G>A		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	227	46	0.202643	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	CCDS8280.1																																																																																			.	.	none		0.289	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		A	87024484	G	A	87024484	2	1	4	1	0	0	0	0	0	0	0	1	16048	1306	46	2		2	TMEM135	11	87024484	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	21607584	87024484	47982032	158	1019										
TMEM135	65084	hgsc.bcm.edu	37	chr11	87024503	87024503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcgctggatcagaaacttaGatgatgaactacatgctatt	9	7	1	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:87024503G>A	ENST00000305494.5	+	11	1012	c.973G>A	c.(973-975)Gat>Aat	p.D325N	TMEM135_ENST00000340353.7_Missense_Mutation_p.D303N|TMEM135_ENST00000535167.1_Missense_Mutation_p.D186N|TMEM135_ENST00000532959.1_Missense_Mutation_p.D196N	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	325					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGAAACTTAGATGATGAACT	0.308																																					p.D325N		Atlas-SNP	.											.	TMEM135	40	.	0			c.G973A						PASS	.						91	96	94					11																	87024503		2201	4297	6498	SO:0001583	missense	65084	exon11			AACTTAGATGATG	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.973G>A	11.37:g.87024503G>A	ENSP00000306344:p.Asp325Asn	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	231	41	0.177489	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224353	0.95139	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.73598	2.24	0.80722	D	1	P;D	0.76494	0.663;0.999	B;D	0.73380	0.321;0.98	T	0.72769	-0.4193	9	.	.	.	-30.6207	18.3398	0.90302	0.0:0.0:1.0:0.0	.	303;325	Q86UB9-2;Q86UB9	.;TM135_HUMAN	N	303;162;196;325;186	ENSP00000345513:D303N;ENSP00000436179:D196N;ENSP00000306344:D325N;ENSP00000439525:D186N	.	D	+	1	0	TMEM135	86702151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.066000	0.93949	2.579000	0.87056	0.655000	0.94253	GAT	.	.	none		0.308	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		A	87024503	G	A	87024503	3	1	4	1	0	0	0	0	1	0	0	0	16048	942	33	2	1015	2	TMEM135	11	87024503	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	19	87024503	47982013	159	1020										
NOX4	50507	hgsc.bcm.edu	37	chr11	89059934	89059934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcaaaagttttcagctgaaaGactctttattgtattcaaat	6	6	3	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:89059934G>T	ENST00000263317.4	-	18	1965	c.1727C>A	c.(1726-1728)tCt>tAt	p.S576Y	NOX4_ENST00000531342.1_Missense_Mutation_p.S229Y|NOX4_ENST00000535633.1_Missense_Mutation_p.S552Y|NOX4_ENST00000413594.2_Missense_Mutation_p.S597Y|NOX4_ENST00000534731.1_Missense_Mutation_p.S536Y|NOX4_ENST00000525196.1_Missense_Mutation_p.S340Y|NOX4_ENST00000528341.1_Missense_Mutation_p.S551Y|NOX4_ENST00000424319.1_Missense_Mutation_p.S552Y|NOX4_ENST00000343727.5_Missense_Mutation_p.S552Y|NOX4_ENST00000532825.1_Missense_Mutation_p.S512Y|NOX4_ENST00000542487.1_Missense_Mutation_p.S552Y|NOX4_ENST00000375979.3_Missense_Mutation_p.S269Y|NOX4_ENST00000527956.1_Missense_Mutation_p.S552Y|NOX4_ENST00000527626.1_Missense_Mutation_p.S389Y			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	576					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TCAGCTGAAAGACTCTTTATT	0.383																																					p.S576Y		Atlas-SNP	.											.	NOX4	101	.	0			c.C1727A						PASS	.						93	94	93					11																	89059934		2201	4299	6500	SO:0001583	missense	50507	exon18			CTGAAAGACTCTT	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1727C>A	11.37:g.89059934G>T	ENSP00000263317:p.Ser576Tyr	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	101	21	0.207921	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774968	0.49786	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.64;-3.64;-3.64;-3.6;-3.63;-3.56;-3.69;-3.64;-3.64;-3.41;-3.61;-3.67;-3.05;-3.0	4.1	4.1	0.47936	.	0.067280	0.64402	D	0.000010	D	0.95778	0.8626	L	0.31845	0.965	0.49798	D	0.999821	B;P;D;D;D;D;D;B	0.76494	0.367;0.885;0.999;0.999;0.997;0.998;0.968;0.242	B;P;D;D;D;D;P;B	0.78314	0.097;0.513;0.979;0.988;0.991;0.935;0.693;0.186	D	0.95144	0.8266	9	.	.	.	-10.1463	16.6923	0.85325	0.0:0.0:1.0:0.0	.	512;389;551;340;229;269;536;576	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	Y	552;552;552;536;340;576;512;552;552;389;551;597;229;269	ENSP00000412446:S552Y;ENSP00000440172:S552Y;ENSP00000344747:S552Y;ENSP00000436892:S536Y;ENSP00000436716:S340Y;ENSP00000263317:S576Y;ENSP00000434924:S512Y;ENSP00000433797:S552Y;ENSP00000439373:S552Y;ENSP00000436093:S389Y;ENSP00000436970:S551Y;ENSP00000405705:S597Y;ENSP00000435039:S229Y;ENSP00000365146:S269Y	.	S	-	2	0	NOX4	88699582	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	8.051000	0.89446	1.991000	0.58162	0.467000	0.42956	TCT	.	.	none		0.383	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		T	89059934	G	T	89059934	3	4	4	1	0	0	0	0	1	0	0	0	10558	942	33	4	13	4	NOX4	11	89059934	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2035431	89059934	45946582	160	1021										
NOX4	50507	hgsc.bcm.edu	37	chr11	89069055	89069055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	catcaaacaaaagtttccacCgaggacgtcctataaacagt	6	11	1	0	rs147166939		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:89069055C>A	ENST00000263317.4	-	17	1812	c.1574G>T	c.(1573-1575)cGg>cTg	p.R525L	NOX4_ENST00000531342.1_Missense_Mutation_p.R178L|NOX4_ENST00000535633.1_Missense_Mutation_p.R501L|NOX4_ENST00000413594.2_Missense_Mutation_p.R546L|NOX4_ENST00000534731.1_Missense_Mutation_p.R485L|NOX4_ENST00000525196.1_Missense_Mutation_p.R289L|NOX4_ENST00000528341.1_Missense_Mutation_p.R500L|NOX4_ENST00000424319.1_Missense_Mutation_p.R501L|NOX4_ENST00000343727.5_Missense_Mutation_p.R501L|NOX4_ENST00000532825.1_Missense_Mutation_p.R461L|NOX4_ENST00000542487.1_Missense_Mutation_p.R501L|NOX4_ENST00000375979.3_Missense_Mutation_p.R218L|NOX4_ENST00000527956.1_Missense_Mutation_p.R501L|NOX4_ENST00000527626.1_Missense_Mutation_p.R338L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	525	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAGTTTCCACCGAGGACGTCC	0.294																																					p.R525L		Atlas-SNP	.											NOX4,colon,carcinoma,0,1	NOX4	101	1	0			c.G1574T						PASS	.						71	72	72					11																	89069055		2201	4296	6497	SO:0001583	missense	50507	exon17			TTCCACCGAGGAC	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1574G>T	11.37:g.89069055C>A	ENSP00000263317:p.Arg525Leu	Somatic	523	0	0		WXS	Illumina HiSeq	Phase_I	445	92	0.206742	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156311	0.57259	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.33	1.36	0.22044	Ferric reductase, NAD binding (1);	0.394426	0.27323	N	0.019884	D	0.92688	0.7676	L	0.33485	1.01	0.35831	D	0.825349	B;P;P;D;B;P;B;B	0.63880	0.091;0.51;0.655;0.993;0.065;0.807;0.186;0.16	B;B;P;P;B;B;B;B	0.58820	0.112;0.319;0.559;0.846;0.045;0.242;0.127;0.112	D	0.90439	0.4430	9	.	.	.	-2.1831	7.9501	0.30010	0.0:0.6701:0.0:0.3299	.	461;338;500;289;178;218;485;525	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	L	501;501;501;485;289;525;461;501;501;338;500;546;178;218	ENSP00000412446:R501L;ENSP00000440172:R501L;ENSP00000344747:R501L;ENSP00000436892:R485L;ENSP00000436716:R289L;ENSP00000263317:R525L;ENSP00000434924:R461L;ENSP00000433797:R501L;ENSP00000439373:R501L;ENSP00000436093:R338L;ENSP00000436970:R500L;ENSP00000405705:R546L;ENSP00000435039:R178L;ENSP00000365146:R218L	.	R	-	2	0	NOX4	88708703	0.001000	0.12720	0.994000	0.49952	0.974000	0.67602	-0.169000	0.09911	0.067000	0.16545	0.563000	0.77884	CGG	C|1.000;T|0.000	.	alt		0.294	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89069055	C	A	89069055	3	1	4	1	0	0	0	0	1	0	0	0	10558	652	23	4	170	4	NOX4	11	89069055	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	9121	89069055	45937461	161	1022										
TRIM49	57093	hgsc.bcm.edu	37	chr11	89531510	89531510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcattgaatgtcattcttaaCacacccaagaagaaagagtc	7	9	2	4	rs201270725	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:89531510C>T	ENST00000329758.1	-	8	1475	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	TRIM49_ENST00000532501.2_Missense_Mutation_p.V306I	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	383	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V383I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCATTCTTAACACACCCAAGA	0.428													t|||	147	0.029353	0.0416	0.0461	5008	,	,		17386	0.0417		0.0099	False		,,,				2504	0.0082				p.V383I		Atlas-SNP	.											TRIM49,extremity,malignant_melanoma,0,1	TRIM49	45	1	1	Substitution - Missense(1)	skin(1)	c.G1147A						scavenged	.						93	99	97					11																	89531510		2089	4263	6352	SO:0001583	missense	57093	exon8			TCTTAACACACCC	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1147G>A	11.37:g.89531510C>T	ENSP00000327604:p.Val383Ile	Somatic	120	6	0.05		WXS	Illumina HiSeq	Phase_I	135	7	0.0518519	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	c	5.953	0.359784	0.11296	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.69040	-0.37	1.04	-2.09	0.07232	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.59810	0.2221	L	0.56124	1.755	0.09310	N	1	P	0.39782	0.688	P	0.45712	0.491	T	0.51442	-0.8705	8	.	.	.	.	2.3535	0.04290	0.231:0.3067:0.0:0.4623	.	383	P0CI25	TRI49_HUMAN	I	383;306	ENSP00000327604:V383I	.	V	-	1	0	TRIM49	89171158	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.544000	0.06077	-1.796000	0.01253	-1.038000	0.02383	GTT	C|0.500;T|0.500	0.500	weak		0.428	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89531510	C	T	89531510	3	4	4	1	0	0	0	0	1	0	0	0	16521	478	17	2	215	2	TRIM49	11	89531510	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	462455	89531510	45475006	162	1023										
FUT4	2526	hgsc.bcm.edu	37	chr11	94278849	94278849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgtacagagggctggggaccGgcccaagagcatacggaact	15	10	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:94278849G>A	ENST00000358752.2	+	1	1833	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	517					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTGGGGACCGGCCCAAGAGC	0.637																																					p.R517Q		Atlas-SNP	.											.	FUT4	17	.	0			c.G1550A						PASS	.						21	22	21					11																	94278849		2201	4298	6499	SO:0001583	missense	2526	exon1			GGGACCGGCCCAA		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1550G>A	11.37:g.94278849G>A	ENSP00000351602:p.Arg517Gln	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	32	7	0.21875	NM_002033	B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.646077	0.29246	.	.	ENSG00000196371	ENST00000358752	T	0.23552	1.9	5.18	-4.55	0.03441	.	0.420286	0.20265	N	0.095800	T	0.08447	0.0210	N	0.05230	-0.09	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.35699	-0.9778	10	0.06891	T	0.86	.	10.9392	0.47264	0.7511:0.0:0.1487:0.1002	.	517	P22083	FUT4_HUMAN	Q	517	ENSP00000351602:R517Q	ENSP00000351602:R517Q	R	+	2	0	FUT4	93918497	0.000000	0.05858	0.000000	0.03702	0.909000	0.53808	0.063000	0.14410	-0.920000	0.03799	-0.254000	0.11334	CGG	.	.	none		0.637	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		A	94278849	G	A	94278849	3	1	4	1	0	0	0	0	1	0	0	0	6106	1116	39	1	1552	1	FUT4	11	94278849	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	4747339	94278849	40727667	163	1024										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825374	95825374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgttgctgctgctgctgctgTtgctgctgctgctgctgctg	14	11	0	0	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:95825374T>C	ENST00000524717.1	-	2	3105	c.1821A>G	c.(1819-1821)caA>caG	p.Q607Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					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)	p.Q607Q(1)	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)				gctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q607Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,NS,carcinoma,0,1	MAML2	94	1	1	Substitution - coding silent(1)	endometrium(1)	c.A1821G						scavenged	.						27	35	33					11																	95825374		2008	3974	5982	SO:0001819	synonymous_variant	84441	exon2			CTGCTGTTGCTGC	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.1821A>G	11.37:g.95825374T>C		Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	56	3	0.0535714	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|1.000;|0.000	1.000	weak		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825374	T	C	95825374	2	2	4	1	0	0	0	0	0	0	0	1	9206	1722	60	2		2	MAML2	11	95825374	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	1546525	95825374	39181142	164	1025										
ALG9	79796	hgsc.bcm.edu	37	chr11	111657183	111657183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttgaggatggtgtagtttaCgtacactgtatactgatctg	11	5	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr11:111657183C>T	ENST00000531154.1	-	15	1754	c.1282G>A	c.(1282-1284)Gta>Ata	p.V428I	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.V421I|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	592					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GTGTAGTTTACGTACACTGTA	0.428																																					p.V599I		Atlas-SNP	.											.	ALG9	77	.	0			c.G1795A						PASS	.						255	237	243					11																	111657183		1907	4122	6029	SO:0001583	missense	79796	exon16			AGTTTACGTACAC		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1282G>A	11.37:g.111657183C>T	ENSP00000435517:p.Val428Ile	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	120	5	0.0416667	NM_024740	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067398	0.36470	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.14022	2.54;2.54	5.76	4.84	0.62591	.	0.396088	0.27754	N	0.017992	T	0.08582	0.0213	N	0.20986	0.625	0.24575	N	0.9939	B;B	0.13145	0.007;0.004	B;B	0.12837	0.008;0.003	T	0.18745	-1.0327	10	0.27785	T	0.31	-2.7151	7.7102	0.28673	0.0:0.7489:0.166:0.0851	.	599;592	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	I	428;421;825	ENSP00000435517:V428I;ENSP00000381090:V421I	ENSP00000381090:V421I	V	-	1	0	ALG9	111162393	0.947000	0.32204	1.000000	0.80357	0.433000	0.31745	0.805000	0.27112	2.882000	0.98803	0.655000	0.94253	GTA	.	.	none		0.428	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		T	111657183	C	T	111657183	3	4	4	1	0	0	0	0	1	0	0	0	524	536	19	1	65	1	ALG9	11	111657183	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	15831809	111657183	23349333	165	1026										
CCND2	894	hgsc.bcm.edu	37	chr12	4383364	4383364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgtgcagaaggacatccaacCctacatgcgcagaatggtgg	12	11	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:4383364C>T	ENST00000261254.3	+	1	427	c.158C>T	c.(157-159)cCc>cTc	p.P53L	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	53	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GACATCCAACCCTACATGCGC	0.657			T	IGL@	"NHL,CLL"																																p.P53L		Atlas-SNP	.		Dom	yes		12	12p13	894	cyclin D2		L	.	CCND2	50	.	0			c.C158T						PASS	.						103	91	95					12																	4383364		2203	4300	6503	SO:0001583	missense	894	exon1			TCCAACCCTACAT	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.158C>T	12.37:g.4383364C>T	ENSP00000261254:p.Pro53Leu	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	177	26	0.146893	NM_001759	A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582352	0.65992	.	.	ENSG00000118971	ENST00000261254	T	0.12039	2.72	4.17	4.17	0.49024	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	M	0.64997	1.995	0.80722	D	1	P	0.41232	0.743	P	0.46419	0.516	T	0.02269	-1.1185	10	0.87932	D	0	.	13.7742	0.63044	0.0:1.0:0.0:0.0	.	53	P30279	CCND2_HUMAN	L	53	ENSP00000261254:P53L	ENSP00000261254:P53L	P	+	2	0	CCND2	4253625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.232000	0.78116	2.127000	0.65507	0.491000	0.48974	CCC	.	.	none		0.657	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		T	4383364	C	T	4383364	3	4	4	1	0	0	0	0	1	0	0	0	2917	623	22	2	160	2	CCND2	12	4383364	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		4383364	129468531	166	1027										
PTPN6	5777	hgsc.bcm.edu	37	chr12	7061240	7061240	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttgcgactctgacagagctgGtggagtactacactcagcag	12	10	2	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:7061240G>C	ENST00000318974.9	+	3	470	c.226G>C	c.(226-228)Gtg>Ctg	p.V76L	PTPN6_ENST00000447931.2_Missense_Mutation_p.V37L|PTPN6_ENST00000399448.1_Missense_Mutation_p.V78L|PTPN6_ENST00000456013.1_Missense_Mutation_p.V76L	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	76	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GACAGAGCTGGTGGAGTACTA	0.567																																					p.V78L		Atlas-SNP	.											.	PTPN6	42	.	0			c.G232C						PASS	.						106	124	118					12																	7061240		2201	4298	6499	SO:0001583	missense	5777	exon3			GAGCTGGTGGAGT		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.226G>C	12.37:g.7061240G>C	ENSP00000326010:p.Val76Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	83	11	0.13253	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389101	0.95988	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	4.86	4.86	0.63082	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.98457	0.9486	M	0.82323	2.585	0.80722	D	1	D;P;P;P;D	0.63880	0.993;0.94;0.885;0.906;0.957	P;P;P;P;P	0.59056	0.755;0.65;0.67;0.778;0.851	D	0.99133	1.0853	10	0.54805	T	0.06	.	18.0136	0.89232	0.0:0.0:1.0:0.0	.	64;37;76;76;78	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	L	97;78;37;76;76;76;76;76;35	ENSP00000443393:V97L;ENSP00000382376:V78L;ENSP00000415979:V37L;ENSP00000438740:V76L;ENSP00000326010:V76L;ENSP00000391592:V76L;ENSP00000444337:V76L;ENSP00000445646:V76L;ENSP00000440114:V35L	ENSP00000326010:V76L	V	+	1	0	PTPN6	6931501	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.253000	0.74438	0.561000	0.74099	GTG	.	.	none		0.567	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		C	7061240	G	C	7061240	3	2	4	1	0	0	0	0	1	0	0	0	12792	1261	44	4	254	4	PTPN6	12	7061240	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2677876	7061240	126790655	167	1028										
C1S	716	hgsc.bcm.edu	37	chr12	7173133	7173133	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttgttcagtttgttgcaggaGatcggcaatttggtccttac	11	7	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:7173133G>C	ENST00000406697.1	+	10	1358	c.730G>C	c.(730-732)Gat>Cat	p.D244H	C1S_ENST00000328916.3_Missense_Mutation_p.D244H|C1S_ENST00000360817.5_Missense_Mutation_p.D244H|C1S_ENST00000402681.3_Missense_Mutation_p.D77H			P09871	C1S_HUMAN	complement component 1, s subcomponent	244	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGTTGCAGGAGATCGGCAATT	0.393																																					p.D244H	GBM(156;750 1943 12971 24779 31015)	Atlas-SNP	.											.	C1S	93	.	0			c.G730C						PASS	.						152	140	144					12																	7173133		2203	4300	6503	SO:0001583	missense	716	exon7			GCAGGAGATCGGC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.730G>C	12.37:g.7173133G>C	ENSP00000385035:p.Asp244His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	91	11	0.120879	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911718	0.33721	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	-2.25	0.06888	CUB (5);	0.494197	0.17083	N	0.187681	T	0.26011	0.0634	L	0.46885	1.475	0.09310	N	1	P	0.45126	0.851	P	0.51055	0.657	T	0.19451	-1.0305	10	0.52906	T	0.07	.	12.5694	0.56328	0.732:0.0:0.268:0.0	.	244	P09871	C1S_HUMAN	H	244;244;244;232;77;77	ENSP00000385035:D244H;ENSP00000328173:D244H;ENSP00000354057:D244H;ENSP00000384171:D77H;ENSP00000442298:D77H	ENSP00000328173:D244H	D	+	1	0	C1S	7043394	0.002000	0.14202	0.003000	0.11579	0.432000	0.31715	-0.406000	0.07187	-0.499000	0.06623	0.561000	0.74099	GAT	.	.	none		0.393	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		C	7173133	G	C	7173133	3	2	4	1	0	0	0	0	1	0	0	0	1974	942	33	4	752	4	C1S	12	7173133	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	111893	7173133	126678762	168	1029										
A2M	2	hgsc.bcm.edu	37	chr12	9266020	9266020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagtgaagaggctcctgtttCccctgacagactccaaggaa	10	12	0	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:9266020C>T	ENST00000318602.7	-	2	513	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	69					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCTCCTGTTTCCCCTGACAGA	0.527																																					p.G69E		Atlas-SNP	.											.	A2M	180	.	0			c.G206A						PASS	.						127	129	128					12																	9266020		2203	4300	6503	SO:0001583	missense	2	exon2			CTGTTTCCCCTGA	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.206G>A	12.37:g.9266020C>T	ENSP00000323929:p.Gly69Glu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	144	28	0.194444	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	1.695	-0.503106	0.04261	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.08008	3.14;3.14	4.83	-4.86	0.03132	.	0.951065	0.08710	N	0.905052	T	0.02848	0.0085	N	0.05487	-0.04	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.46707	-0.9172	10	0.02654	T	1	.	7.029	0.24956	0.0:0.27:0.1246:0.6054	.	69	P01023	A2MG_HUMAN	E	69;84;69	ENSP00000323929:G69E;ENSP00000385710:G69E	ENSP00000323929:G69E	G	-	2	0	A2M	9157287	0.000000	0.05858	0.002000	0.10522	0.888000	0.51559	-0.865000	0.04250	-0.510000	0.06523	-0.142000	0.14014	GGA	.	.	none		0.527	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9266020	C	T	9266020	3	4	4	1	0	0	0	0	1	0	0	0	4	855	30	2	4358	2	A2M	12	9266020	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2092887	9266020	124585875	169	1030										
TAS2R31	259290	hgsc.bcm.edu	37	chr12	11183305	11183305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgagatcctttaccatggagCtgcatcttcttgagatgttt	9	8	2	2	rs200367513		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:11183305C>G	ENST00000390675.2	-	1	701	c.630G>C	c.(628-630)caG>caC	p.Q210H	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	210					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TACCATGGAGCTGCATCTTCT	0.428																																					p.Q210H		Atlas-SNP	.											TAS2R31,NS,carcinoma,-2,1	TAS2R31	24	1	0			c.G630C						scavenged	.						146	150	149					12																	11183305		2203	4300	6503	SO:0001583	missense	259290	exon1			ATGGAGCTGCATC	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.630G>C	12.37:g.11183305C>G	ENSP00000375093:p.Gln210His	Somatic	197	3	0.0152284		WXS	Illumina HiSeq	Phase_I	170	11	0.0647059	NM_176885	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	7.207	0.594731	0.13875	.	.	ENSG00000256436	ENST00000390675	T	0.00966	5.49	2.62	-2.78	0.05859	.	.	.	.	.	T	0.01695	0.0054	M	0.81614	2.55	0.09310	N	1	B	0.24132	0.098	B	0.35688	0.208	T	0.48222	-0.9054	9	0.56958	D	0.05	.	0.2746	0.00236	0.2058:0.2981:0.2036:0.2925	.	210	P59538	T2R31_HUMAN	H	210	ENSP00000375093:Q210H	ENSP00000375093:Q210H	Q	-	3	2	TAS2R31	11074572	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-2.259000	0.01178	-0.320000	0.08640	0.194000	0.17425	CAG	.	.	weak		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183305	C	G	11183305	3	3	4	1	0	0	0	0	1	0	0	0	15571	796	28	4	303	4	TAS2R31	12	11183305	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	1917285	11183305	122668590	170	1031										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506288	11506288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	19	6	0	1	rs140825288	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:11506288T>C	ENST00000500254.2	-	4	387	c.350A>G	c.(349-351)aAa>aGa	p.K117R	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.K117R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.612													t|||	39	0.00778754	0.0106	0.0086	5008	,	,		16399	0.0079		0.0099	False		,,,				2504	0.001				p.K117R		Atlas-SNP	.											PRB1,NS,carcinoma,0,2	PRB1	33	2	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.A350G						scavenged	.						92	112	105					12																	11506288		2098	4245	6343	SO:0001583	missense	5542	exon4			TGAGGTTTGTTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.350A>G	12.37:g.11506288T>C	ENSP00000420826:p.Lys117Arg	Somatic	168	4	0.0238095		WXS	Illumina HiSeq	Phase_I	140	7	0.05	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.431560	0.01108	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.04119	3.7;3.7	1.29	-1.39	0.08997	.	.	.	.	.	T	0.03871	0.0109	L	0.39147	1.195	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.44544	-0.9321	8	.	.	.	.	5.2744	0.15641	0.0:0.2701:0.0:0.7299	.	257;117	Q86YA1;G3V1M9	.;.	R	117	ENSP00000420826:K117R;ENSP00000442127:K117R	.	K	-	2	0	PRB1	11397555	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.188000	0.17018	-0.320000	0.08640	0.113000	0.15668	AAA	.	.	weak		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506288	T	C	11506288	3	2	4	1	0	0	0	0	1	0	0	0	12442	1841	64	2	250	2	PRB1	12	11506288	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	322983	11506288	122345607	171	1032										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546314	11546314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctggaggagatcgggcacttTgggacttgttgtctccttgt	14	8	1	1	rs34305575	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:11546314T>C	ENST00000389362.4	-	3	733	c.698A>G	c.(697-699)cAa>cGa	p.Q233R	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	233	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].		Q -> R (in dbSNP:rs34305575).			extracellular region (GO:0005576)		p.Q233R(1)|p.Q212R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGCACTTTGGGACTTGTT	0.602													t|||	1065	0.21266	0.525	0.1513	5008	,	,		19415	0.0942		0.0298	False		,,,				2504	0.1442				p.Q233R		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	prostate(2)	c.A698G						scavenged	.	C	ARG/GLN	2053,2353		493,1067,643	246	269	261		698	-1.2	0	12	dbSNP_126	261	255,8339		12,231,4054	no	missense	PRB2	NM_006248.3	43	505,1298,4697	CC,CT,TT		2.9672,46.5956,17.7538	benign	233/417	11546314	2308,10692	2203	4297	6500	SO:0001583	missense	653247	exon3			GCACTTTGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.698A>G	12.37:g.11546314T>C	ENSP00000374013:p.Gln233Arg	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	153	4	0.0261438	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	336	0.15384615384615385	207	0.42073170731707316	55	0.15193370165745856	57	0.09965034965034965	17	0.022427440633245383	.	1.619	-0.522010	0.04171	0.465956	0.029672	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.17	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.14252	T	0.57	.	5.1581	0.15046	0.0:0.2047:0.0:0.7953	rs34305575	233	P02812	PRB2_HUMAN	R	233	ENSP00000374013:Q233R	ENSP00000374013:Q233R	Q	-	2	0	PRB2	11437581	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-0.886000	0.03966	-1.635000	0.00777	CAA	T|0.891;C|0.109	0.109	strong		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546314	T	C	11546314	3	2	4	1	0	0	0	0	1	0	0	0	12443	1812	63	2	556	2	PRB2	12	11546314	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	40026	11546314	122305581	172	1033										
HIST4H4	121504	hgsc.bcm.edu	37	chr12	14923952	14923952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccttggatattgtcccgcaGcaccttccggtggcgcttgg	13	13	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:14923952G>T	ENST00000539745.1	-	1	113	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	23					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TTGTCCCGCAGCACCTTCCGG	0.597											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L23M		Atlas-SNP	.											.	HIST4H4	13	.	0			c.C67A						PASS	.						51	57	55					12																	14923952		2203	4300	6503	SO:0001583	missense	121504	exon1			CCCGCAGCACCTT	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.67C>A	12.37:g.14923952G>T	ENSP00000443017:p.Leu23Met	Somatic	63	0	0	698	WXS	Illumina HiSeq	Phase_I	59	12	0.20339	NM_175054	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418716	0.25552	.	.	ENSG00000197837	ENST00000539745	.	.	.	4.18	-7.5	0.01351	.	0.000000	0.45126	U	0.000396	T	0.60919	0.2306	.	.	.	0.23712	N	0.997046	.	.	.	.	.	.	T	0.65450	-0.6165	6	0.66056	D	0.02	.	21.8368	0.99962	0.1506:0.0:0.8494:0.0	.	.	.	.	M	23	.	ENSP00000350767:L23M	L	-	1	2	HIST4H4	14815219	0.797000	0.28877	0.000000	0.03702	0.002000	0.02628	1.140000	0.31516	-2.027000	0.00932	-1.847000	0.00572	CTG	.	.	none		0.597	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		T	14923952	G	T	14923952	3	4	4	1	0	0	0	0	1	0	0	0	7185	962	34	4	248	4	HIST4H4	12	14923952	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	3377638	14923952	118927943	173	1034										
CCNT1	904	hgsc.bcm.edu	37	chr12	49110308	49110308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acaaggatacacgttaagacGctgccccatgtcctgaagca	9	12	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:49110308G>T	ENST00000261900.3	-	1	373	c.151C>A	c.(151-153)Cgt>Agt	p.R51S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	51					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ACGTTAAGACGCTGCCCCATG	0.582											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R51S		Atlas-SNP	.											CCNT1,NS,carcinoma,+1,1	CCNT1	55	1	0			c.C151A						scavenged	.						119	115	117					12																	49110308		2203	4300	6503	SO:0001583	missense	904	exon1			TAAGACGCTGCCC	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.151C>A	12.37:g.49110308G>T	ENSP00000261900:p.Arg51Ser	Somatic	108	0	0	959	WXS	Illumina HiSeq	Phase_I	107	3	0.0280374	NM_001240	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108040	0.94292	.	.	ENSG00000129315	ENST00000261900	T	0.11930	2.73	5.65	5.65	0.86999	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44360	-0.9333	10	0.87932	D	0	-12.3049	18.8769	0.92341	0.0:0.0:1.0:0.0	.	51	O60563	CCNT1_HUMAN	S	51	ENSP00000261900:R51S	ENSP00000261900:R51S	R	-	1	0	CCNT1	47396575	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.938000	0.63519	2.836000	0.97738	0.655000	0.94253	CGT	.	.	none		0.582	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		T	49110308	G	T	49110308	3	4	4	1	0	0	0	0	1	0	0	0	2934	1087	38	4	2065	4	CCNT1	12	49110308	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	34186356	49110308	84741587	174	1035										
SLC16A7	9194	hgsc.bcm.edu	37	chr12	60168856	60168856	+	Frame_Shift_Del	DEL	T	T	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aatgtcattatgttcctaggTttttttgcccccattatatt							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:60168856delT	ENST00000261187.4	+	4	944	c.780delT	c.(778-780)ggtfs	p.G260fs	SLC16A7_ENST00000552024.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000547379.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000543448.1_Frame_Shift_Del_p.G161fs|SLC16A7_ENST00000552432.1_Frame_Shift_Del_p.G260fs	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	260					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.G260G(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGTTCCTAGGTTTTTTTGCCC	0.353																																					p.G260fs		Pindel,Atlas-Indel	.											SLC16A7,NS,carcinoma,-1,1	SLC16A7	82	1	1	Substitution - coding silent(1)	lung(1)	c.779delG						PASS	.						84	82	83					12																	60168856		2203	4300	6503	SO:0001589	frameshift_variant	9194	exon5			.	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.780delT	12.37:g.60168856delT	ENSP00000261187:p.Gly260fs	Somatic	130	.	.		WXS	Illumina HiSeq	Phase_I	137	23	0.168	NM_001270623	Q8NEM3|Q9UPB3	Frame_Shift_Del	DEL	ENST00000261187.4	37	CCDS8961.1																																																																																			.	.	none		0.353	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		-	60168856	T	-	60168856	7	5	4	1	0	1	0	1	0	0	0	0	14413	1712	60	0	790	0	SLC16A7	12	60168856	Frame_Shift_Del	DEL	T	TCGA-FA-A6HN-01A-11D-A31X-10	11058548	60168856	73683039	175	1036										
KCNC2	3747	hgsc.bcm.edu	37	chr12	75436936	75436936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgcctcagaggacaaggagaGttgtagggtgatgttactgg	16	6	1	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:75436936G>A	ENST00000549446.1	-	5	2546	c.1866C>T	c.(1864-1866)aaC>aaT	p.N622N	KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000540018.1_Silent_p.N567N|RP11-81K13.1_ENST00000550049.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	622					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GACAAGGAGAGTTGTAGGGTG	0.433																																					p.N622N		Atlas-SNP	.											.	KCNC2	239	.	0			c.C1866T						PASS	.						167	151	156					12																	75436936		2203	4300	6503	SO:0001819	synonymous_variant	3747	exon5			AGGAGAGTTGTAG	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1866C>T	12.37:g.75436936G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	102	19	0.186275	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	CCDS9007.1																																																																																			.	.	none		0.433	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75436936	G	A	75436936	2	1	4	1	0	0	0	0	0	0	0	1	8015	1020	36	2		2	KCNC2	12	75436936	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	15268080	75436936	58414959	176	1037										
PPFIA2	8499	hgsc.bcm.edu	37	chr12	81769580	81769580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acagagatactgaacctgccGcaggatagcttctttatttg	9	9	1	2	rs370246827		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:81769580G>A	ENST00000549396.1	-	10	1286	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PPFIA2_ENST00000550584.2_Missense_Mutation_p.R376W|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R223W|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R277W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R358W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R376W|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R376W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R358W|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R302W	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	376	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGAACCTGCCGCAGGATAGCT	0.398																																					p.R376W		Atlas-SNP	.											.	PPFIA2	207	.	0			c.C1126T						PASS	.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3796		0,0,1898	150	146	147		1126,1072,1126,1126,904,829,1126	5.4	1	12		147	1,8205		0,1,4102	no	missense,missense,missense,missense,missense,missense,missense	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_003625.3	101,101,101,101,101,101,101	0,1,6000	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	376/1248,358/1233,376/1237,376/1252,302/1157,277/1153,376/1258	81769580	1,12001	1898	4103	6001	SO:0001583	missense	8499	exon9			CCTGCCGCAGGAT	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1126C>T	12.37:g.81769580G>A	ENSP00000450337:p.Arg376Trp	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	81	12	0.148148	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411904	0.62511	0.0	1.22E-4	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.79033	1.19;1.19;1.19;-1.23;1.19;1.19;1.19	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60609	0.736;0.877	D	0.89787	0.3965	10	0.87932	D	0	-3.2321	15.3055	0.73990	0.0:0.0:0.8594:0.1406	.	276;376	B7Z4H8;O75334	.;LIPA2_HUMAN	W	376;358;302;387;358;376;277;376	ENSP00000450337:R376W;ENSP00000450298:R358W;ENSP00000385093:R302W;ENSP00000327416:R358W;ENSP00000449338:R376W;ENSP00000388373:R277W;ENSP00000447868:R376W	ENSP00000327416:R358W	R	-	1	2	PPFIA2	80293711	1.000000	0.71417	0.993000	0.49108	0.794000	0.44872	3.400000	0.52594	2.723000	0.93209	0.650000	0.86243	CGG	.	.	weak		0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81769580	G	A	81769580	3	1	4	1	0	0	0	0	1	0	0	0	12310	1086	38	1	2739	1	PPFIA2	12	81769580	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	6332644	81769580	52082315	177	1038										
LTA4H	4048	hgsc.bcm.edu	37	chr12	96396751	96396751	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttcttacttgaataagggccGggtaaacttcattcttcctt	7	9	3	1	rs376007921		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:96396751G>T	ENST00000228740.2	-	18	1846	c.1705C>A	c.(1705-1707)Cgg>Agg	p.R569R	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Silent_p.R545R	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	569					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AATAAGGGCCGGGTAAACTTC	0.408																																					p.R569R		Atlas-SNP	.											LTA4H,colon,carcinoma,+1,1	LTA4H	38	1	0			c.C1705A						scavenged	.						115	104	108					12																	96396751		2203	4300	6503	SO:0001819	synonymous_variant	4048	exon18			AGGGCCGGGTAAA	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1705C>A	12.37:g.96396751G>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	122	3	0.0245902	NM_000895	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	CCDS9059.1																																																																																			.	.	alt		0.408	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		T	96396751	G	T	96396751	2	4	4	1	0	0	0	0	0	0	0	1	9069	1115	39	4		4	LTA4H	12	96396751	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	14627171	96396751	37455144	178	1039										
CUX2	23316	hgsc.bcm.edu	37	chr12	111744875	111744875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	catccgccaaccagatcgccGacctggagcggcagctcacg	11	17	1	1	rs201601231	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:111744875G>A	ENST00000261726.6	+	11	1163	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	337					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCAGATCGCCGACCTGGAGCG	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		17073	0.002		0.0	False		,,,				2504	0.0				p.D337N		Atlas-SNP	.											.	CUX2	145	.	0			c.G1009A						PASS	.	G	ASN/ASP	0,4020		0,0,2010	20	25	23		1009	5.3	0.9	12		23	1,8323		0,1,4161	no	missense	CUX2	NM_015267.3	23	0,1,6171	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	337/1487	111744875	1,12343	2010	4162	6172	SO:0001583	missense	23316	exon11			ATCGCCGACCTGG	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1009G>A	12.37:g.111744875G>A	ENSP00000261726:p.Asp337Asn	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	49	10	0.204082	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.535085	0.96460	0.0	1.2E-4	ENSG00000111249	ENST00000261726	T	0.43294	0.95	5.3	5.3	0.74995	.	0.102642	0.64402	D	0.000005	T	0.39733	0.1089	L	0.44542	1.39	0.49130	D	0.999751	D	0.59357	0.985	B	0.43155	0.41	T	0.15665	-1.0429	10	0.26408	T	0.33	-36.3562	18.5534	0.91073	0.0:0.0:1.0:0.0	.	337	O14529	CUX2_HUMAN	N	337	ENSP00000261726:D337N	ENSP00000261726:D337N	D	+	1	0	CUX2	110229258	1.000000	0.71417	0.938000	0.37757	0.742000	0.42306	6.315000	0.72853	2.483000	0.83821	0.643000	0.83706	GAC	G|1.000;A|0.000	0.000	strong		0.667	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111744875	G	A	111744875	3	1	4	1	0	0	0	0	1	0	0	0	4065	1058	37	1	1051	1	CUX2	12	111744875	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	15348124	111744875	22107020	179	1040										
BRAP	8315	hgsc.bcm.edu	37	chr12	112082105	112082105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atggcgatgttgatctgtccCtcctggatttcctgccgggt	12	11	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr12:112082105C>T	ENST00000327551.6	-	12	1727	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	BRAP_ENST00000419234.4_Silent_p.E559E|BRAP_ENST00000539060.1_Silent_p.E380E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGATCTGTCCCTCCTGGATTT	0.617																																					p.E559E	Pancreas(146;846 1904 7830 25130 26065)	Atlas-SNP	.											.	BRAP	42	.	0			c.G1677A						PASS	.						146	119	128					12																	112082105		2203	4300	6503	SO:0001819	synonymous_variant	8315	exon12			CTGTCCCTCCTGG	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1587G>A	12.37:g.112082105C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000327551.6	37																																																																																				.	.	none		0.617	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			T	112082105	C	T	112082105	2	4	4	1	0	0	0	0	0	0	0	1	1497	680	24	2		2	BRAP	12	112082105	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	337230	112082105	21769790	180	1041										
ZMYM2	7750	hgsc.bcm.edu	37	chr13	20641392	20641392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttttagctaaatcagtaaaGttaaaagaggatctactctc	6	6	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr13:20641392G>A	ENST00000382874.2	+	22	3505	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	ZMYM2_ENST00000382871.2_Silent_p.K1105K|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382869.3_Silent_p.K1105K	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATCAGTAAAGTTAAAAGAGG	0.328																																					p.K1105K		Atlas-SNP	.											.	ZMYM2	191	.	0			c.G3315A						PASS	.						43	38	39					13																	20641392		1816	4065	5881	SO:0001819	synonymous_variant	7750	exon22			AGTAAAGTTAAAA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3315G>A	13.37:g.20641392G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	19	0.2375	NM_001190964	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																			.	.	none		0.328	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		A	20641392	G	A	20641392	2	1	4	1	0	0	0	0	0	0	0	1	17697	1020	36	2		2	ZMYM2	13	20641392	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10		20641392	94528486	181	1042										
IFT88	8100	hgsc.bcm.edu	37	chr13	21237643	21237643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	attttacaatttaggtctgcGtttcttagttcgtctctgca	7	8	3	0	rs143840290	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr13:21237643G>A	ENST00000319980.6	+	25	2429	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H	IFT88_ENST00000351808.5_Missense_Mutation_p.R692H|IFT88_ENST00000537103.1_Missense_Mutation_p.R673H|IFT88_ENST00000382778.4_Silent_p.A742A	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	701					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.R701H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTAGGTCTGCGTTTCTTAGTT	0.338													G|||	6	0.00119808	0.0	0.0058	5008	,	,		18602	0.002		0.0	False		,,,				2504	0.0				p.R701H		Atlas-SNP	.											IFT88,caecum,carcinoma,0,1	IFT88	83	1	1	Substitution - Missense(1)	large_intestine(1)	c.G2102A						scavenged	.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	105	99	101		2075,2102	5.8	1	13	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IFT88	NM_006531.3,NM_175605.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	692/825,701/834	21237643	1,13005	2203	4300	6503	SO:0001583	missense	8100	exon25			GTCTGCGTTTCTT	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2102G>A	13.37:g.21237643G>A	ENSP00000323580:p.Arg701His	Somatic	51	1	0.0196078		WXS	Illumina HiSeq	Phase_I	31	6	0.193548	NM_175605	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701816	0.88924	0.0	1.16E-4	ENSG00000032742	ENST00000351808;ENST00000319980;ENST00000537103	T;T;T	0.53206	0.63;0.63;0.63	5.84	5.84	0.93424	.	0.106704	0.64402	D	0.000004	T	0.72036	0.3411	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.78314	0.855;0.991	T	0.74090	-0.3777	10	0.66056	D	0.02	-12.7827	18.9266	0.92548	0.0:0.0:1.0:0.0	.	673;701	F5H6C2;Q13099	.;IFT88_HUMAN	H	692;701;673	ENSP00000261632:R692H;ENSP00000323580:R701H;ENSP00000437719:R673H	ENSP00000323580:R701H	R	+	2	0	IFT88	20135643	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.539000	0.82063	2.760000	0.94817	0.655000	0.94253	CGT	G|1.000;A|0.000	0.000	weak		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		A	21237643	G	A	21237643	3	1	4	1	0	0	0	0	1	0	0	0	7566	1145	40	1	2192	1	IFT88	13	21237643	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	596251	21237643	93932235	182	1043										
RXFP2	122042	hgsc.bcm.edu	37	chr13	32376518	32376518	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aacaaaataacacttggagaCagtataatgaaaccagtttc	6	7	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr13:32376518C>G	ENST00000298386.2	+	18	2312	c.2241C>G	c.(2239-2241)gaC>gaG	p.D747E	RXFP2_ENST00000380314.1_Missense_Mutation_p.D723E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	747					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CACTTGGAGACAGTATAATGA	0.368																																					p.D747E		Atlas-SNP	.											.	RXFP2	95	.	0			c.C2241G						PASS	.						170	186	181					13																	32376518		2203	4300	6503	SO:0001583	missense	122042	exon18			TGGAGACAGTATA	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2241C>G	13.37:g.32376518C>G	ENSP00000298386:p.Asp747Glu	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	22	0.231579	NM_130806	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945129	0.34283	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71698	-0.59;-0.53	5.78	2.1	0.27182	.	0.061064	0.64402	D	0.000009	T	0.56514	0.1990	L	0.40543	1.245	0.27142	N	0.96162	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.43956	-0.9359	10	0.30078	T	0.28	.	7.8028	0.29185	0.0:0.4382:0.4154:0.1463	.	723;747	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	723;747	ENSP00000369670:D723E;ENSP00000298386:D747E	ENSP00000298386:D747E	D	+	3	2	RXFP2	31274518	0.006000	0.16342	0.996000	0.52242	0.918000	0.54935	-0.743000	0.04845	0.358000	0.24211	0.655000	0.94253	GAC	.	.	none		0.368	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		G	32376518	C	G	32376518	3	3	4	1	0	0	0	0	1	0	0	0	13760	477	17	4	2311	4	RXFP2	13	32376518	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	11138875	32376518	82793360	183	1044										
GAS6	2621	hgsc.bcm.edu	37	chr13	114530106	114530106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctccgttcagccagttccagCtcctcatgcagccatccaga	7	17	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr13:114530106C>T	ENST00000327773.6	-	12	1486	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	GAS6_ENST00000418959.3_Missense_Mutation_p.S148N|GAS6_ENST00000450766.1_Missense_Mutation_p.S174N|GAS6_ENST00000355761.4_Missense_Mutation_p.S393N|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.S490N	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	490	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGTTCCAGCTCCTCATGCA	0.567																																					p.S447N		Atlas-SNP	.											GAS6_ENST00000327773,colon,carcinoma,-1,2	GAS6	75	2	0			c.G1340A						PASS	.						142	115	124					13																	114530106		2203	4300	6503	SO:0001583	missense	2621	exon12			TTCCAGCTCCTCA		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1340G>A	13.37:g.114530106C>T	ENSP00000331831:p.Ser447Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	62	9	0.145161	NM_000820	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521409	0.13005	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	4.55	3.7	0.42460	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.64057	0.2564	N	0.16903	0.455	0.29004	N	0.887312	P;B;B	0.48503	0.911;0.001;0.001	P;B;B	0.47402	0.546;0.002;0.002	T	0.54330	-0.8310	9	0.16896	T	0.51	-32.5518	6.1848	0.20491	0.0:0.6573:0.1674:0.1753	.	490;174;447	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	N	490;393;174;148;447	ENSP00000349962:S490N;ENSP00000348003:S393N;ENSP00000416498:S174N;ENSP00000400117:S148N;ENSP00000331831:S447N	ENSP00000331831:S447N	S	-	2	0	GAS6	113583837	1.000000	0.71417	0.889000	0.34880	0.462000	0.32619	3.448000	0.52943	0.901000	0.36495	0.462000	0.41574	AGC	.	.	none		0.567	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		T	114530106	C	T	114530106	3	4	4	1	0	0	0	0	1	0	0	0	6249	797	28	2	712	2	GAS6	13	114530106	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	82153588	114530106	639772	184	1045										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	40	5	0.125	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	4	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		23744829	83604711	185	1046										
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061				p.T102M		Atlas-SNP	.											DHRS4,NS,carcinoma,0,5	DHRS4	22	5	4	Substitution - Missense(4)	central_nervous_system(2)|lung(1)|kidney(1)	c.C305T						scavenged	.																																			SO:0001630	splice_region_variant	10901	exon2			TGGCCACGGTGAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T		Somatic	160	4	0.025		WXS	Illumina HiSeq	Phase_I	117	7	0.0598291	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG	.	.	none		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	T	24424420	C	T	24424420	5	4	4	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	679591	24424420	82925120	186	1047										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45433254	45433254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tggcatcatcaatgggctcaGgtaaaaccagcatccttttt	8	10	3	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:45433254G>A	ENST00000361577.3	+	1	1844	c.1630G>A	c.(1630-1632)Ggt>Agt	p.G544S	KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.G544S|FAM179B_ENST00000361462.2_Missense_Mutation_p.G544S|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	544										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATGGGCTCAGGTAAAACCAG	0.463																																					p.G544S		Atlas-SNP	.											.	FAM179B	115	.	0			c.G1630A						PASS	.						117	116	116					14																	45433254		2203	4300	6503	SO:0001583	missense	23116	exon1			GGCTCAGGTAAAA	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1630G>A	14.37:g.45433254G>A	ENSP00000355045:p.Gly544Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	58	9	0.155172	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798793	0.70567	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.54675	0.56;0.56;0.56	4.47	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.073488	0.53938	N	0.000058	T	0.59918	0.2229	L	0.35723	1.085	0.58432	D	0.999997	P;D;D;P	0.89917	0.715;1.0;1.0;0.715	P;D;D;P	0.91635	0.653;0.999;0.997;0.577	T	0.55679	-0.8103	10	0.30854	T	0.27	-9.2512	12.2476	0.54578	0.0837:0.0:0.9163:0.0	.	544;544;544;544	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	S	544	ENSP00000355045:G544S;ENSP00000354917:G544S;ENSP00000371668:G544S	ENSP00000354917:G544S	G	+	1	0	FAM179B	44503004	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.158000	0.64917	1.097000	0.41459	0.561000	0.74099	GGT	.	.	none		0.463	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		A	45433254	G	A	45433254	3	1	4	1	0	0	0	0	1	0	0	0	5506	1000	35	2	1632	2	FAM179B	14	45433254	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	21008834	45433254	61916286	187	1048										
ATG2B	55102	hgsc.bcm.edu	37	chr14	96779678	96779678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaacttacctataatcaagtGcacagctccaaagatgaaca	6	10	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:96779678G>T	ENST00000359933.4	-	24	4630	c.3737C>A	c.(3736-3738)gCa>gAa	p.A1246E	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1246					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATAATCAAGTGCACAGCTCCA	0.279																																					p.A1246E		Atlas-SNP	.											ATG2B,NS,carcinoma,-1,1	ATG2B	169	1	0			c.C3737A						scavenged	.						53	54	54					14																	96779678		2203	4298	6501	SO:0001583	missense	55102	exon24			TCAAGTGCACAGC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3737C>A	14.37:g.96779678G>T	ENSP00000353010:p.Ala1246Glu	Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	334	4	0.011976	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502731	0.85176	.	.	ENSG00000066739	ENST00000359933	T	0.13307	2.6	5.66	4.77	0.60923	.	0.170039	0.52532	D	0.000061	T	0.31979	0.0814	M	0.72894	2.215	0.52501	D	0.999955	D	0.56968	0.978	P	0.58077	0.832	T	0.07809	-1.0753	10	0.66056	D	0.02	.	14.5861	0.68326	0.0702:0.0:0.9298:0.0	.	1246	Q96BY7	ATG2B_HUMAN	E	1246	ENSP00000353010:A1246E	ENSP00000353010:A1246E	A	-	2	0	ATG2B	95849431	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.134000	0.94467	1.394000	0.46624	0.655000	0.94253	GCA	.	.	none		0.279	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		T	96779678	G	T	96779678	3	4	4	1	0	0	0	0	1	0	0	0	1094	1319	46	4	2575	4	ATG2B	14	96779678	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	51346424	96779678	10569862	188	1049										
CRIP1	1396	hgsc.bcm.edu	37	chr14	105954680	105954681	+	Frame_Shift_Del	DEL	CC	CC	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctttgcagcacgaaggcaaaCcctactgcaaccacccctgc							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:105954680_105954681delCC	ENST00000330233.7	+	3	1091_1092	c.148_149delCC	c.(148-150)cccfs	p.P50fs	C14orf80_ENST00000392522.3_5'Flank|CRIP1_ENST00000551180.1_Frame_Shift_Del_p.T18fs|C14orf80_ENST00000392527.1_5'Flank|C14orf80_ENST00000334656.7_5'Flank|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.P50fs|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000354560.6_5'Flank|C14orf80_ENST00000392523.4_5'Flank|CRIP1_ENST00000409393.2_Frame_Shift_Del_p.P50fs			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	50	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		CGAAGGCAAACCCTACTGCAAC	0.658																																					p.49_50del		Atlas-Indel	.											.	CRIP1	1	.	0			c.147_148del						PASS	.																																			SO:0001589	frameshift_variant	1396	exon4			.		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.148_149delCC	14.37:g.105954680_105954681delCC	ENSP00000332449:p.Pro50fs	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	101	15	0.148515	NM_001311	H3BPI2|Q13628|Q53XY7|Q96J34	Frame_Shift_Del	DEL	ENST00000330233.7	37	CCDS10004.1																																																																																			.	.	none		0.658	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		-	105954681	CC	-	105954680	7	5	4	1	0	1	0	1	0	0	0	0	3874	507	18	0	158	0	CRIP1	14	105954680	Frame_Shift_Del	DEL	CC	TCGA-FA-A6HN-01A-11D-A31X-10	9175002	105954680	1394860	189	1050	24	2								
CRIP1	1396	hgsc.bcm.edu	37	chr14	105954689	105954689	+	Missense_Mutation	SNP	A	A	C													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acgaaggcaaaccctactgcAaccacccctgctacgcagcc							TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr14:105954689A>C	ENST00000330233.7	+	3	1100	c.157A>C	c.(157-159)Aac>Cac	p.N53H	C14orf80_ENST00000392522.3_5'Flank|CRIP1_ENST00000551180.1_Missense_Mutation_p.Q21P|C14orf80_ENST00000392527.1_5'Flank|C14orf80_ENST00000334656.7_5'Flank|CRIP1_ENST00000392531.3_Missense_Mutation_p.N53H|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000354560.6_5'Flank|C14orf80_ENST00000392523.4_5'Flank|CRIP1_ENST00000409393.2_Missense_Mutation_p.N53H			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	53	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ACCCTACTGCAACCACCCCTG	0.642																																					p.N53H		Atlas-SNP	.											.	CRIP1	1	.	0			c.A157C						PASS	.						46	62	57					14																	105954689		2202	4300	6502	SO:0001583	missense	1396	exon4			TACTGCAACCACC		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.157A>C	14.37:g.105954689A>C	ENSP00000332449:p.Asn53His	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	108	17	0.157407	NM_001311	H3BPI2|Q13628|Q53XY7|Q96J34	Missense_Mutation	SNP	ENST00000330233.7	37	CCDS10004.1	.	.	.	.	.	.	.	.	.	.	A	4.183	0.032586	0.08101	.	.	ENSG00000213145	ENST00000330233;ENST00000409393;ENST00000392531	D;D;D	0.87491	-2.26;-2.26;-2.26	4.76	4.76	0.60689	Zinc finger, LIM-type (4);	0.000000	0.53938	U	0.000044	T	0.73613	0.3609	.	.	.	0.51012	D	0.999902	B	0.06786	0.001	B	0.18263	0.021	T	0.65257	-0.6212	9	0.07482	T	0.82	-7.0094	9.4659	0.38813	0.8215:0.1785:0.0:0.0	.	53	P50238	CRIP1_HUMAN	H	53	ENSP00000332449:N53H;ENSP00000386340:N53H;ENSP00000376315:N53H	ENSP00000447493:N53H	N	+	1	0	CRIP1	105025734	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	1.736000	0.38187	1.775000	0.52247	0.528000	0.53228	AAC	.	.	none		0.642	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		C	105954689	A	C	105954689	3	2	4	1	0	0	0	0	1	0	0	0	3874	130	5	5	167	5	CRIP1	14	105954689	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	9	105954689	1394851	190	1051	24	2								
SLC12A6	9990	hgsc.bcm.edu	37	chr15	34628685	34628685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cagttgccagcgaagtggtgGccccagacatctcactcata	10	13	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:34628685G>A	ENST00000354181.3	-	2	689	c.197C>T	c.(196-198)gCc>gTc	p.A66V	SLC12A6_ENST00000397702.2_Missense_Mutation_p.A7V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A7V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A66V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A66V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A57V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A66V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	66					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGAAGTGGTGGCCCCAGACAT	0.562																																					p.A66V		Atlas-SNP	.											.	SLC12A6	205	.	0			c.C197T						PASS	.						63	70	68					15																	34628685		2178	4286	6464	SO:0001583	missense	9990	exon1			GTGGTGGCCCCAG	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.197C>T	15.37:g.34628685G>A	ENSP00000346112:p.Ala66Val	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	76	11	0.144737	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755564	0.49362	.	.	ENSG00000140199	ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D	0.83992	-1.79;-1.79;-1.79	4.89	3.97	0.46021	.	0.237554	0.33938	N	0.004416	T	0.63522	0.2518	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55560	-0.8122	10	0.13108	T	0.6	.	10.0434	0.42173	0.0939:0.0:0.9061:0.0	.	66;66	Q9UHW9-3;Q9UHW9	.;S12A6_HUMAN	V	66;57;7;7	ENSP00000380819:A66V;ENSP00000380814:A7V;ENSP00000387725:A7V	ENSP00000346112:A57V	A	-	2	0	SLC12A6	32415977	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.116000	0.50399	1.285000	0.44548	0.563000	0.77884	GCC	.	.	none		0.562	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		A	34628685	G	A	34628685	3	1	4	1	0	0	0	0	1	0	0	0	14387	1203	42	2	3477	2	SLC12A6	15	34628685	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10		34628685	67902707	191	1052										
MGA	23269	hgsc.bcm.edu	37	chr15	42003386	42003386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttagtttgcggcaggcacagCagcagcagcaacagcaacag	12	11	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:42003386C>T	ENST00000570161.1	+	7	2923	c.2923C>T	c.(2923-2925)Cag>Tag	p.Q975*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q975*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q975*|MGA_ENST00000219905.7_Nonsense_Mutation_p.Q975*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q975*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGGCACAGCAGCAGCAGCA	0.463																																					p.Q975X		Atlas-SNP	.											.	MGA	264	.	0			c.C2923T						PASS	.						56	62	60					15																	42003386		2056	4224	6280	SO:0001587	stop_gained	23269	exon8			GCACAGCAGCAGC	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2923C>T	15.37:g.42003386C>T	ENSP00000457035:p.Gln975*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	65	9	0.138462	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	38	7.045182	0.98025	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.88	3.92	0.45320	.	0.485631	0.18517	N	0.138876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.8687	0.70437	0.1451:0.8549:0.0:0.0	.	.	.	.	X	975	.	ENSP00000219905:Q975X	Q	+	1	0	MGA	39790678	0.889000	0.30405	0.964000	0.40570	0.530000	0.34684	3.477000	0.53151	1.312000	0.45043	0.650000	0.86243	CAG	.	.	none		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42003386	C	T	42003386	4	4	4	1	0	0	0	0	0	1	0	0	9540	711	25	2	2949	2	MGA	15	42003386	Nonsense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	7374701	42003386	60528006	192	1053										
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu	37	chr15	42139859	42139859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctccacaggggtccggcggaCacccgaggaggcggcagctg	17	14	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:42139859C>A	ENST00000452633.1	+	21	2499	c.2147C>A	c.(2146-2148)aCa>aAa	p.T716K	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.T716K|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.T947K|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.T947K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H885N			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	716	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GTCCGGCGGACACCCGAGGAG	0.632																																					p.T947K		Atlas-SNP	.											.	JMJD7-PLA2G4B	90	.	0			c.C2840A						PASS	.						56	54	55					15																	42139859		2203	4300	6503	SO:0001583	missense	8681	exon25			GGCGGACACCCGA	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2147C>A	15.37:g.42139859C>A	ENSP00000396045:p.Thr716Lys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	67	19	0.283582	NM_005090	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.47|13.47	2.246633|2.246633	0.39697|0.39697	.|.	.|.	ENSG00000168970|ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000342159|ENST00000382448;ENST00000458483;ENST00000452633	T|T;T;T	0.01474|0.03951	4.85|3.75;3.75;3.75	4.77|4.77	1.66|1.66	0.24008|0.24008	.|Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	.|0.389650	.|0.24757	.|N	.|0.035848	T|T	0.03390|0.03390	0.0098|0.0098	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99996|0.99996	B|B;B	0.19817|0.24258	0.039|0.047;0.1	B|B;B	0.13407|0.25506	0.009|0.012;0.061	T|T	0.36890|0.36890	-0.9729|-0.9729	8|9	0.87932|0.59425	D|D	0|0.04	-9.1587|-9.1587	2.3448|2.3448	0.04269|0.04269	0.2463:0.3812:0.2733:0.0992|0.2463:0.3812:0.2733:0.0992	.|.	885|716;947	P0C869-7|P0C869;P0C869-6	.|PA24B_HUMAN;.	N|K	885|947;716;716	ENSP00000342785:H885N|ENSP00000371886:T947K;ENSP00000416610:T716K;ENSP00000396045:T716K	ENSP00000342785:H885N|ENSP00000371886:T947K	H|T	+|+	1|2	0|0	JMJD7-PLA2G4B|JMJD7-PLA2G4B;PLA2G4B	39927151|39927151	0.000000|0.000000	0.05858|0.05858	0.286000|0.286000	0.24833|0.24833	0.347000|0.347000	0.29111|0.29111	-0.089000|-0.089000	0.11180|0.11180	1.155000|1.155000	0.42497|0.42497	0.491000|0.491000	0.48974|0.48974	CAC|ACA	.	.	none		0.632	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		A	42139859	C	A	42139859	3	1	4	1	0	0	0	0	1	0	0	0	7955	478	17	4	2938	4	JMJD7-PLA2G4B	15	42139859	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	136473	42139859	60391533	193	1054										
SNX1	6642	hgsc.bcm.edu	37	chr15	64410372	64410372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ataatcagaagaaggtgctaGccaaaacactcatttctctt	6	9	3	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:64410372G>A	ENST00000559844.1	+	3	342	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	SNX1_ENST00000561026.1_Intron|SNX1_ENST00000261889.5_Missense_Mutation_p.A110T|SNX1_ENST00000353874.4_Missense_Mutation_p.A110T|SNX1_ENST00000560829.1_5'UTR			Q13596	SNX1_HUMAN	sorting nexin 1	110					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAAGGTGCTAGCCAAAACACT	0.438																																					p.A110T		Atlas-SNP	.											.	SNX1	36	.	0			c.G328A						PASS	.						111	100	104					15																	64410372		2203	4300	6503	SO:0001583	missense	6642	exon3			GTGCTAGCCAAAA	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.328G>A	15.37:g.64410372G>A	ENSP00000453785:p.Ala110Thr	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	140	35	0.25	NM_003099	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429880	0.25726	.	.	ENSG00000028528	ENST00000380285;ENST00000353874	T	0.46063	0.88	5.66	4.75	0.60458	.	0.625902	0.17890	N	0.158550	T	0.32133	0.0819	N	0.19112	0.55	0.28175	N	0.928424	B;B;B;B	0.23990	0.095;0.011;0.012;0.011	B;B;B;B	0.34991	0.158;0.063;0.193;0.034	T	0.28299	-1.0048	10	0.20519	T	0.43	-11.319	12.4081	0.55451	0.0774:0.0:0.9226:0.0	.	110;110;110;110	Q6ZRJ8;Q53GY8;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	T	110	ENSP00000326668:A110T	ENSP00000326668:A110T	A	+	1	0	SNX1	62197425	1.000000	0.71417	0.654000	0.29608	0.054000	0.15201	3.917000	0.56424	1.542000	0.49330	0.655000	0.94253	GCC	.	.	none		0.438	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		A	64410372	G	A	64410372	3	1	4	1	0	0	0	0	1	0	0	0	14880	971	34	2	338	2	SNX1	15	64410372	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	22270513	64410372	38121020	194	1055										
UACA	55075	hgsc.bcm.edu	37	chr15	70960860	70960860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agcttattatccaaataaacTttttcaatttccttttgtag	3	7	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:70960860T>C	ENST00000322954.6	-	16	2348	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	UACA_ENST00000379983.2_Silent_p.K708K|UACA_ENST00000539319.1_Silent_p.K612K|UACA_ENST00000560441.1_Silent_p.K706K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	721					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCAAATAAACTTTTTCAATTT	0.313																																					p.K721K		Atlas-SNP	.											.	UACA	235	.	0			c.A2163G						PASS	.						97	98	97					15																	70960860		2199	4296	6495	SO:0001819	synonymous_variant	55075	exon16			ATAAACTTTTTCA	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2163A>G	15.37:g.70960860T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	55	10	0.181818	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																			.	.	none		0.313	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70960860	T	C	70960860	2	2	4	1	0	0	0	0	0	0	0	1	16821	1606	56	3		3	UACA	15	70960860	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	6550488	70960860	31570532	195	1056										
ISLR2	57611	hgsc.bcm.edu	37	chr15	74426853	74426853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgttttccaccaagaaggaGctcccatcgctgctggtcat	10	12	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr15:74426853G>T	ENST00000361742.3	+	4	2527	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	ISLR2_ENST00000453268.2_Missense_Mutation_p.E586D|ISLR2_ENST00000445793.1_Missense_Mutation_p.E586D|ISLR2_ENST00000435464.1_Missense_Mutation_p.E586D|ISLR2_ENST00000419208.1_Missense_Mutation_p.E586D|ISLR2_ENST00000565159.1_Missense_Mutation_p.E586D|ISLR2_ENST00000565540.1_Missense_Mutation_p.E586D|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	586					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCAAGAAGGAGCTCCCATCGC	0.642																																					p.E586D		Atlas-SNP	.											.	ISLR2	78	.	0			c.G1758T						PASS	.						35	31	32					15																	74426853		2198	4296	6494	SO:0001583	missense	57611	exon4			GAAGGAGCTCCCA		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1758G>T	15.37:g.74426853G>T	ENSP00000355402:p.Glu586Asp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	75	8	0.106667	NM_001130138	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865890	0.51588	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	4.73	0.492	0.16872	.	0.059441	0.64402	D	0.000003	T	0.41627	0.1167	L	0.27053	0.805	0.34021	D	0.652649	D	0.57257	0.979	P	0.49999	0.628	T	0.51371	-0.8714	10	0.27785	T	0.31	.	8.8954	0.35460	0.4526:0.0:0.5474:0.0	.	586	Q6UXK2	ISLR2_HUMAN	D	586;586;586;586;175;586	ENSP00000403244:E586D;ENSP00000355402:E586D;ENSP00000411443:E586D;ENSP00000411834:E586D;ENSP00000408872:E586D	ENSP00000355402:E586D	E	+	3	2	ISLR2	72213906	0.924000	0.31332	0.992000	0.48379	0.893000	0.52053	0.436000	0.21526	0.207000	0.20607	0.313000	0.20887	GAG	.	.	none		0.642	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		T	74426853	G	T	74426853	3	4	4	1	0	0	0	0	1	0	0	0	7859	962	34	4	1760	4	ISLR2	15	74426853	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	3465993	74426853	28104539	196	1057										
MAZ	4150	hgsc.bcm.edu	37	chr16	29819056	29819064	+	In_Frame_Del	DEL	AGCGCAAGG	AGCGCAAGG	-													0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggtgtgccagcagcgcttcaAgcgcaaggaccgcatgagct					rs141211357	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	AGCGCAAGG	AGCGCAAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr16:29819056_29819064delAGCGCAAGG	ENST00000322945.6	+	2	1115_1123	c.950_958delAGCGCAAGG	c.(949-960)aagcgcaaggac>aac	p.317_320KRKD>N	MAZ_ENST00000219782.6_In_Frame_Del_p.317_320KRKD>N|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000568282.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_In_Frame_Del_p.294_297KRKD>N|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000569978.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	317					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGCGCTTCAAGCGCAAGGACCGCATGAG	0.632																																					p.317_319del	Colon(72;875 1167 15364 30899 37091)	Atlas-Indel	.											.	MAZ	48	.	0			c.949_957del						PASS	.																																			SO:0001651	inframe_deletion	4150	exon2			.	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.950_958delAGCGCAAGG	16.37:g.29819056_29819064delAGCGCAAGG	ENSP00000313362:p.Lys317_Asp320delinsAsn	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	13	0.175676	NM_002383	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	In_Frame_Del	DEL	ENST00000322945.6	37	CCDS42143.1																																																																																			.	.	none		0.632	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		-	29819064	AGCGCAAGG	-	29819056	7	5	4	1	0	1	0	1	0	0	0	0	9340	72	3	0	956	0	MAZ	16	29819056	In_Frame_Del	DEL	AGCGCAAGG	TCGA-FA-A6HN-01A-11D-A31X-10		29819056	60535697	197	1058										
CORO1A	11151	hgsc.bcm.edu	37	chr16	30198463	30198463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atctacagtgtggactggagCcgagatggaggcctcatttg	14	8	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr16:30198463C>T	ENST00000219150.5	+	5	860	c.555C>T	c.(553-555)agC>agT	p.S185S	CORO1A_ENST00000570045.1_Silent_p.S185S|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000565497.1_Silent_p.S185S|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	185					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TGGACTGGAGCCGAGATGGAG	0.612																																					p.S185S		Atlas-SNP	.											.	CORO1A	36	.	0			c.C555T						PASS	.						89	77	81					16																	30198463		2197	4300	6497	SO:0001819	synonymous_variant	11151	exon6			CTGGAGCCGAGAT	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.555C>T	16.37:g.30198463C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	46	10	0.217391	NM_001193333	B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	CCDS10673.1																																																																																			.	.	none		0.612	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		T	30198463	C	T	30198463	2	4	4	1	0	0	0	0	0	0	0	1	3753	738	26	2		2	CORO1A	16	30198463	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	379407	30198463	60156290	198	1059										
PLD2	5338	hgsc.bcm.edu	37	chr17	4711711	4711711	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gagtctgctccctctggctcGgtgagggcgaccggactgct	15	13	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:4711711G>A	ENST00000263088.6	+	4	514	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Splice_Site_p.R128Q	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCTCTGGCTCGGTGAGGGCGA	0.567																																					p.R128Q		Atlas-SNP	.											.	PLD2	138	.	0			c.G383A						PASS	.						131	132	132					17																	4711711		2203	4300	6503	SO:0001630	splice_region_variant	5338	exon4			TGGCTCGGTGAGG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.383+1G>A	17.37:g.4711711G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	45	13	0.288889	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665808	0.88251	.	.	ENSG00000129219	ENST00000263088	T	0.08807	3.05	5.51	5.51	0.81932	Phox homologous domain (5);	0.110266	0.64402	D	0.000015	T	0.14056	0.0340	M	0.77103	2.36	0.80722	D	1	B;P	0.42248	0.26;0.774	B;B	0.36567	0.095;0.228	T	0.02313	-1.1178	10	0.41790	T	0.15	-22.7426	16.9089	0.86135	0.0:0.0:1.0:0.0	.	128;128	O14939-2;O14939	.;PLD2_HUMAN	Q	128	ENSP00000263088:R128Q	ENSP00000263088:R128Q	R	+	2	0	PLD2	4658675	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.337000	0.79256	2.578000	0.87016	0.561000	0.74099	CGA	.	.	none		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Missense_Mutation	A	4711711	G	A	4711711	5	1	4	1	0	0	0	0	0	0	1	0	12046	1130	39	1	393	1	PLD2	17	4711711	Splice_Site	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10		4711711	76483499	199	1060										
SLC13A5	284111	hgsc.bcm.edu	37	chr17	6607294	6607294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcaatatggcctccacgatGggcaccatcatggccgtggt	12	12	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:6607294G>A	ENST00000433363.2	-	4	683	c.450C>T	c.(448-450)ccC>ccT	p.P150P	SLC13A5_ENST00000293800.6_Silent_p.P133P|SLC13A5_ENST00000573648.1_Silent_p.P150P|SLC13A5_ENST00000381074.4_Silent_p.P107P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	150					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCTCCACGATGGGCACCATCA	0.637																																					p.P150P		Atlas-SNP	.											.	SLC13A5	57	.	0			c.C450T						PASS	.						54	47	49					17																	6607294		2203	4300	6503	SO:0001819	synonymous_variant	284111	exon4			CACGATGGGCACC	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.450C>T	17.37:g.6607294G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	23	6	0.26087	NM_001143838	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	CCDS11079.1																																																																																			.	.	none		0.637	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		A	6607294	G	A	6607294	2	1	4	1	0	0	0	0	0	0	0	1	14395	1335	47	2		2	SLC13A5	17	6607294	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1895583	6607294	74587916	200	1061										
COX10	1352	hgsc.bcm.edu	37	chr17	14095348	14095348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccacttgttgtgctgttccGggagttgccattctgacctt	11	11	1	1	rs587780910		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:14095348G>A	ENST00000261643.3	+	6	815	c.738G>A	c.(736-738)ccG>ccA	p.P246P	COX10_ENST00000537334.1_Silent_p.P29P|COX10_ENST00000536205.1_Silent_p.P54P	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	246					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTGCTGTTCCGGGAGTTGCCA	0.502																																					p.P246P		Atlas-SNP	.											COX10,NS,carcinoma,+1,1	COX10	36	1	0			c.G738A						scavenged	.						123	118	120					17																	14095348		2203	4300	6503	SO:0001819	synonymous_variant	1352	exon6			TGTTCCGGGAGTT	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.738G>A	17.37:g.14095348G>A		Somatic	53	2	0.0377358		WXS	Illumina HiSeq	Phase_I	67	5	0.0746269	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	CCDS11166.1																																																																																			T|0.054;A|0.946	0.946	alt		0.502	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14095348	G	A	14095348	2	1	4	1	0	0	0	0	0	0	0	1	3762	1103	39	1		1	COX10	17	14095348	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	7488054	14095348	67099862	201	1062										
PLD6	201164	hgsc.bcm.edu	37	chr17	17106346	17106346	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcgagccagtgatgagcaccCtcttgtccacgatggcaaac	11	13	1	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:17106346C>G	ENST00000321560.3	-	2	522	c.494G>C	c.(493-495)aGg>aCg	p.R165T	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	165	PLD phosphodiesterase. {ECO:0000255|PROSITE-ProRule:PRU00153}.				DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						GATGAGCACCCTCTTGTCCAC	0.532																																					p.R165T		Atlas-SNP	.											.	PLD6	9	.	0			c.G494C						PASS	.						134	105	115					17																	17106346		2203	4300	6503	SO:0001583	missense	201164	exon2			AGCACCCTCTTGT	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.494G>C	17.37:g.17106346C>G	ENSP00000317177:p.Arg165Thr	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	105	21	0.2	NM_178836	Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	37	CCDS11182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.914|9.914	1.210336|1.210336	0.22289|0.22289	.|.	.|.	ENSG00000179598|ENSG00000179598	ENST00000427497|ENST00000321560	.|T	.|0.20881	.|2.04	5.15|5.15	2.94|2.94	0.34122|0.34122	.|Phospholipase D/Transphosphatidylase (2);	.|0.167628	.|0.50627	.|D	.|0.000117	T|T	0.13286|0.13286	0.0322|0.0322	L|L	0.35249|0.35249	1.045|1.045	0.27240|0.27240	N|N	0.959164|0.959164	.|B	.|0.22683	.|0.073	.|B	.|0.20577	.|0.03	T|T	0.19679|0.19679	-1.0298|-1.0298	6|10	0.87932|0.30854	D|T	0|0.27	-7.1851|-7.1851	5.2864|5.2864	0.15704|0.15704	0.0:0.231:0.1386:0.6304|0.0:0.231:0.1386:0.6304	.|.	.|165	.|Q8N2A8	.|PLD6_HUMAN	D|T	138|165	.|ENSP00000317177:R165T	ENSP00000394249:E138D|ENSP00000317177:R165T	E|R	-|-	3|2	2|0	PLD6|PLD6	17047071|17047071	0.962000|0.962000	0.33011|0.33011	0.997000|0.997000	0.53966|0.53966	0.623000|0.623000	0.37688|0.37688	1.395000|1.395000	0.34520|0.34520	0.395000|0.395000	0.25257|0.25257	-0.302000|-0.302000	0.09304|0.09304	GAG|AGG	.	.	none		0.532	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		G	17106346	C	G	17106346	3	3	4	1	0	0	0	0	1	0	0	0	12050	681	24	4	268	4	PLD6	17	17106346	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	3010998	17106346	64088864	202	1063										
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254124	39254124	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tggggcttgcagcagctggaCacacagcagctggggcgaca	16	11	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:39254124C>G	ENST00000333822.4	-	1	269	c.213G>C	c.(211-213)gtG>gtC	p.V71V		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCAGCTGGACACACAGCAGC	0.667																																					p.V71V		Atlas-SNP	.											KRTAP4-8,colon,carcinoma,0,2	KRTAP4-8	57	2	0			c.G213C						scavenged	.						5	8	7					17																	39254124		620	1442	2062	SO:0001819	synonymous_variant	728224	exon1			GCTGGACACACAG	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.213G>C	17.37:g.39254124C>G		Somatic	35	1	0.0285714		WXS	Illumina HiSeq	Phase_I	52	3	0.0576923	NM_031960	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																			.	.	none		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254124	C	G	39254124	2	3	4	1	0	0	0	0	0	0	0	1	8556	465	17	4		4	KRTAP4-8	17	39254124	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	22147778	39254124	41941086	203	1064										
KAT2A	2648	hgsc.bcm.edu	37	chr17	40267789	40267789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tcgtcggcgtaggtgaggaaGtagagaatgttgtgcttgat	16	4	0	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:40267789G>A	ENST00000225916.5	-	12	1880	c.1827C>T	c.(1825-1827)taC>taT	p.Y609Y		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	609	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGTGAGGAAGTAGAGAATGT	0.572																																					p.Y609Y		Atlas-SNP	.											.	KAT2A	54	.	0			c.C1827T						PASS	.						251	228	235					17																	40267789		2203	4300	6503	SO:0001819	synonymous_variant	2648	exon12			GAGGAAGTAGAGA	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1827C>T	17.37:g.40267789G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	52	8	0.153846	NM_021078	Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	CCDS11417.1																																																																																			.	.	none		0.572	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		A	40267789	G	A	40267789	2	1	4	1	0	0	0	0	0	0	0	1	7981	1024	36	2		2	KAT2A	17	40267789	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1013665	40267789	40927421	204	1065										
STAT3	6774	hgsc.bcm.edu	37	chr17	40474419	40474419	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	acaccaggatattggtagcaTccatgatcttatagcccatg	8	10	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:40474419T>A	ENST00000264657.5	-	21	2294	c.1982A>T	c.(1981-1983)gAt>gTt	p.D661V	STAT3_ENST00000389272.3_Missense_Mutation_p.D563V|STAT3_ENST00000588969.1_Missense_Mutation_p.D661V|STAT3_ENST00000404395.3_Missense_Mutation_p.D661V|STAT3_ENST00000585517.1_Missense_Mutation_p.D661V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	661	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTGGTAGCATCCATGATCTT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.D661V		Atlas-SNP	.											STAT3,skin,lymphoid_neoplasm,-1,42	STAT3	268	42	0			c.A1982T						PASS	.						244	212	223					17																	40474419		2203	4300	6503	SO:0001583	missense	6774	exon21	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	GTAGCATCCATGA	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1982A>T	17.37:g.40474419T>A	ENSP00000264657:p.Asp661Val	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	93	14	0.150538	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187509	0.57909	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.89270	-2.49;-2.49;-2.49	4.47	4.47	0.54385	SH2 motif (4);	0.131223	0.56097	D	0.000040	D	0.89424	0.6711	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	D	0.88197	0.2881	10	0.30854	T	0.27	-36.2816	13.9124	0.63876	0.0:0.0:0.0:1.0	.	661;661;661	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	661;563;661	ENSP00000264657:D661V;ENSP00000373923:D563V;ENSP00000384943:D661V	ENSP00000264657:D661V	D	-	2	0	STAT3	37727945	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	4.904000	0.63279	1.882000	0.54519	0.533000	0.62120	GAT	.	.	none		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		A	40474419	T	A	40474419	3	1	4	1	0	0	0	0	1	0	0	0	15265	1435	50	5	346	5	STAT3	17	40474419	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	206630	40474419	40720791	205	1066										
SCRN2	90507	hgsc.bcm.edu	37	chr17	45915662	45915662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tctctccatcagccccagggCtgcctggtgtccacggtaga	11	15	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:45915662C>A	ENST00000290216.9	-	7	1218	c.1093G>T	c.(1093-1095)Gcc>Tcc	p.A365S	SCRN2_ENST00000584123.1_Missense_Mutation_p.A373S|SCRN2_ENST00000407215.3_Missense_Mutation_p.A365S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	365						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGCCCCAGGGCTGCCTGGTGT	0.597																																					p.A365S		Atlas-SNP	.											.	SCRN2	35	.	0			c.G1093T						PASS	.						59	60	59					17																	45915662		2203	4300	6503	SO:0001583	missense	90507	exon7			CCAGGGCTGCCTG	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1093G>T	17.37:g.45915662C>A	ENSP00000290216:p.Ala365Ser	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_138355	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850840	0.91277	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.10573	3.09;2.86	5.66	5.66	0.87406	.	0.046551	0.85682	D	0.000000	T	0.39708	0.1088	M	0.85041	2.73	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.991	T	0.24225	-1.0166	10	0.56958	D	0.05	-23.5455	18.5098	0.90911	0.0:1.0:0.0:0.0	.	365;365;365	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	365	ENSP00000290216:A365S;ENSP00000383935:A365S	ENSP00000290216:A365S	A	-	1	0	SCRN2	43270661	1.000000	0.71417	0.975000	0.42487	0.775000	0.43874	5.320000	0.65841	2.675000	0.91044	0.655000	0.94253	GCC	.	.	none		0.597	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45915662	C	A	45915662	3	1	4	1	0	0	0	0	1	0	0	0	13939	797	28	4	210	4	SCRN2	17	45915662	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	5441243	45915662	35279548	206	1067										
MBTD1	54799	hgsc.bcm.edu	37	chr17	49281177	49281177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggaggaacaagaggttttccGctggctgcacaccaaccaac	11	12	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:49281177G>A	ENST00000586178.1	-	8	1057	c.714C>T	c.(712-714)agC>agT	p.S238S	MBTD1_ENST00000376381.2_Silent_p.S238S|MBTD1_ENST00000415868.1_Silent_p.S238S	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	238					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGTTTTCCGCTGGCTGCAC	0.363																																					p.S238S		Atlas-SNP	.											.	MBTD1	44	.	0			c.C714T						PASS	.						130	130	130					17																	49281177		2203	4300	6503	SO:0001819	synonymous_variant	54799	exon8			TTTTCCGCTGGCT	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.714C>T	17.37:g.49281177G>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	197	47	0.238579	NM_017643	Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	CCDS11581.2																																																																																			.	.	none		0.363	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			A	49281177	G	A	49281177	2	1	4	1	0	0	0	0	0	0	0	1	9360	1078	38	1		1	MBTD1	17	49281177	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	3365515	49281177	31914033	207	1068										
CA4	762	hgsc.bcm.edu	37	chr17	58227428	58227428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctggcgctcctggccctctcCgcggcgcggccatcggccag	14	19	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:58227428C>T	ENST00000300900.4	+	1	132	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	11					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TGGCCCTCTCCGCGGCGCGGC	0.761																																					p.S11S		Atlas-SNP	.											.	CA4	20	.	0			c.C33T						PASS	.						10	12	11					17																	58227428		2156	4197	6353	SO:0001819	synonymous_variant	762	exon1			CCTCTCCGCGGCG	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.33C>T	17.37:g.58227428C>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	53	5	0.0943396	NM_000717	B4DQA4|Q6FHI7	Silent	SNP	ENST00000300900.4	37	CCDS11624.1																																																																																			.	.	none		0.761	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		T	58227428	C	T	58227428	2	4	4	1	0	0	0	0	0	0	0	1	2518	639	23	1		1	CA4	17	58227428	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	8946251	58227428	22967782	208	1069										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62045701	62045701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgactggatcagggcccccaCgatcgtcttcagccctgacc	10	17	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:62045701C>T	ENST00000435607.1	-	6	794	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	SCN4A_ENST00000578147.1_Missense_Mutation_p.V240M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	240					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGCCCCCACGATCGTCTTC	0.597																																					p.V240M		Atlas-SNP	.											.	SCN4A	205	.	0			c.G718A						PASS	.						69	70	70					17																	62045701		2092	4260	6352	SO:0001583	missense	6329	exon6			CCCCCACGATCGT	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.718G>A	17.37:g.62045701C>T	ENSP00000396320:p.Val240Met	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	80	6	0.075	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275416	0.80580	.	.	ENSG00000007314	ENST00000435607	D	0.98968	-5.28	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.91090	3.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99000	1.0811	10	0.87932	D	0	.	17.6345	0.88118	0.0:1.0:0.0:0.0	.	240	P35499	SCN4A_HUMAN	M	240	ENSP00000396320:V240M	ENSP00000396320:V240M	V	-	1	0	SCN4A	59399433	1.000000	0.71417	0.967000	0.41034	0.635000	0.38103	7.651000	0.83577	2.648000	0.89879	0.561000	0.74099	GTG	.	.	none		0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62045701	C	T	62045701	3	4	4	1	0	0	0	0	1	0	0	0	13920	536	19	1	4868	1	SCN4A	17	62045701	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	3818273	62045701	19149509	209	1070										
ABCA10	10349	hgsc.bcm.edu	37	chr17	67178333	67178333	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tccatttgaataagctccgtGaagttaaaaattcccataag	6	8	0	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:67178333G>T	ENST00000269081.4	-	23	3639	c.2730C>A	c.(2728-2730)ttC>ttA	p.F910L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	910					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)					TAAGCTCCGTGAAGTTAAAAA	0.378																																					p.F910L		Atlas-SNP	.											.	ABCA10	209	.	0			c.C2730A						PASS	.						52	50	50					17																	67178333		2203	4300	6503	SO:0001583	missense	10349	exon23			CTCCGTGAAGTTA	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.2730C>A	17.37:g.67178333G>T	ENSP00000269081:p.Phe910Leu	Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	256	48	0.1875	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	1.793	-0.478907	0.04414	.	.	ENSG00000154263	ENST00000269081	D	0.82081	-1.57	2.76	-5.52	0.02560	.	1.124900	0.07235	U	0.863186	T	0.62319	0.2418	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49986	-0.8880	10	0.11485	T	0.65	.	2.25	0.04041	0.1658:0.1157:0.3923:0.3262	.	910;910	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	910	ENSP00000269081:F910L	ENSP00000269081:F910L	F	-	3	2	ABCA10	64689928	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.996000	0.03709	-1.060000	0.03189	0.186000	0.17326	TTC	.	.	none		0.378	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67178333	G	T	67178333	3	4	4	1	0	0	0	0	1	0	0	0	29	1281	45	4	1973	4	ABCA10	17	67178333	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	5132632	67178333	14016877	210	1071										
TNRC6C	57690	hgsc.bcm.edu	37	chr17	76045908	76045908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tggggactgtccccaggtaaCcctgccacaggaaatagcaa	11	12	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:76045908C>T	ENST00000588061.1	+	5	1492	c.765C>T	c.(763-765)aaC>aaT	p.N255N	TNRC6C_ENST00000301624.4_Silent_p.N255N|TNRC6C_ENST00000544502.1_Silent_p.N255N|TNRC6C_ENST00000588847.1_Silent_p.N255N|TNRC6C_ENST00000335749.4_Silent_p.N255N|TNRC6C_ENST00000541771.1_Silent_p.N255N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	255	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCCAGGTAACCCTGCCACAG	0.498																																					p.N255N		Atlas-SNP	.											TNRC6C,NS,carcinoma,+1,1	TNRC6C	173	1	0			c.C765T						PASS	.						70	72	71					17																	76045908		1950	4151	6101	SO:0001819	synonymous_variant	57690	exon4			AGGTAACCCTGCC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.765C>T	17.37:g.76045908C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	61	25	0.409836	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.	.	none		0.498	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76045908	C	T	76045908	2	4	4	1	0	0	0	0	0	0	0	1	16339	506	18	2		2	TNRC6C	17	76045908	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	8867575	76045908	5149302	211	1072										
TMC6	11322	hgsc.bcm.edu	37	chr17	76113396	76113396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	agatgaccttgcgctggcccCgcaccacctggatgttgagg	13	13	0	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr17:76113396C>T	ENST00000590602.1	-	18	2390	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	TMC6_ENST00000392467.3_Missense_Mutation_p.R744Q|TMC6_ENST00000322914.3_Missense_Mutation_p.R744Q|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.R323Q|TMC6_ENST00000322933.4_Missense_Mutation_p.R323Q			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.R744L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCGCTGGCCCCGCACCACCTG	0.682																																					p.R744Q		Atlas-SNP	.											TMC6,NS,carcinoma,+1,2	TMC6	42	2	1	Substitution - Missense(1)	kidney(1)	c.G2231A						scavenged	.						70	73	72					17																	76113396		2203	4300	6503	SO:0001583	missense	11322	exon18			TGGCCCCGCACCA	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2231G>A	17.37:g.76113396C>T	ENSP00000465261:p.Arg744Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_001127198	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.850067	0.32699	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71817	-0.19;-0.19;-0.6	4.4	3.3	0.37823	.	0.240175	0.41294	D	0.000902	T	0.44030	0.1274	N	0.11201	0.11	0.29387	N	0.862882	B;B	0.28378	0.174;0.209	B;B	0.18263	0.018;0.021	T	0.30794	-0.9966	10	0.21014	T	0.42	-21.9113	6.9829	0.24713	0.0:0.2384:0.0:0.7616	.	744;323	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	Q	744;744;323	ENSP00000313408:R744Q;ENSP00000376260:R744Q;ENSP00000313479:R323Q	ENSP00000313408:R744Q	R	-	2	0	TMC6	73624991	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.270000	0.43355	0.534000	0.28695	0.561000	0.74099	CGG	.	.	none		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			T	76113396	C	T	76113396	3	4	4	1	0	0	0	0	1	0	0	0	15986	652	23	1	198	1	TMC6	17	76113396	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	67488	76113396	5081814	212	1073										
NDUFV2	4729	hgsc.bcm.edu	37	chr18	9122638	9122638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tactacaccctgcatgcttcGaaactctgacagcatactgg	7	13	1	1	rs148158107	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr18:9122638G>C	ENST00000318388.6	+	5	542	c.428G>C	c.(427-429)cGa>cCa	p.R143P	NDUFV2_ENST00000400033.1_Missense_Mutation_p.R146P|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	143					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R143P(1)		breast(1)|lung(4)|ovary(1)|stomach(1)	7						TGCATGCTTCGAAACTCTGAC	0.373																																					p.R143P		Atlas-SNP	.											NDUFV2,colon,carcinoma,+1,3	NDUFV2	17	3	1	Substitution - Missense(1)	stomach(1)	c.G428C						scavenged	.						101	90	94					18																	9122638		2203	4300	6503	SO:0001583	missense	4729	exon5			TGCTTCGAAACTC	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.428G>C	18.37:g.9122638G>C	ENSP00000327268:p.Arg143Pro	Somatic	164	6	0.0365854		WXS	Illumina HiSeq	Phase_I	142	7	0.0492958	NM_021074	Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399441	0.83120	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.49720	0.78;0.77	5.93	5.93	0.95920	Thioredoxin-like fold (2);	0.054528	0.85682	D	0.000000	T	0.78272	0.4257	H	0.95611	3.695	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	T	0.79412	-0.1814	10	0.29301	T	0.29	-4.6044	20.3397	0.98756	0.0:0.0:1.0:0.0	.	143	P19404	NDUV2_HUMAN	P	143;146	ENSP00000327268:R143P;ENSP00000382908:R146P	ENSP00000327268:R143P	R	+	2	0	NDUFV2	9112638	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	CGA	G|0.996;C|0.005	0.005	strong		0.373	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		C	9122638	G	C	9122638	3	2	4	1	0	0	0	0	1	0	0	0	10300	1058	37	4	446	4	NDUFV2	18	9122638	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10		9122638	68954610	213	1074										
PHLPP1	23239	hgsc.bcm.edu	37	chr18	60497429	60497429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctgtgaaagacagcttgaccGgaaagatgcatgttctgcca	11	9	1	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr18:60497429G>A	ENST00000262719.5	+	2	1972	c.1738G>A	c.(1738-1740)Gga>Aga	p.G580R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G68R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGCTTGACCGGAAAGATGCA	0.448																																					p.G580R		Atlas-SNP	.											PHLPP1_ENST00000262719,NS,haematopoietic_neoplasm,0,3	PHLPP1	164	3	0			c.G1738A						scavenged	.						100	97	98					18																	60497429		2049	4191	6240	SO:0001583	missense	23239	exon2			TTGACCGGAAAGA	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1738G>A	18.37:g.60497429G>A	ENSP00000262719:p.Gly580Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	125	3	0.024	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	32	5.170182	0.94768	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.40756	1.02;1.02	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.56963	0.2021	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46062	-0.9218	9	0.17369	T	0.5	-12.8033	18.4367	0.90649	0.0:0.0:1.0:0.0	.	580	O60346	PHLP1_HUMAN	R	68;580	ENSP00000383170:G68R;ENSP00000262719:G580R	ENSP00000262719:G580R	G	+	1	0	PHLPP1	58648409	1.000000	0.71417	0.932000	0.37286	0.975000	0.68041	9.657000	0.98554	2.590000	0.87494	0.555000	0.69702	GGA	.	.	none		0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60497429	G	A	60497429	3	1	4	1	0	0	0	0	1	0	0	0	11854	1117	39	1	1744	1	PHLPP1	18	60497429	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	51374791	60497429	17579819	214	1075										
GZMM	3004	hgsc.bcm.edu	37	chr19	549011	549011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcagcagggactcggtgcagCatggccggctgggggctgac	19	11	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:549011C>T	ENST00000264553.3	+	4	476	c.438C>T	c.(436-438)agC>agT	p.S146S		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		CTCGGTGCAGCATGGCCGGCT	0.687																																					p.S146S		Atlas-SNP	.											GZMM,bladder,carcinoma,+1,1	GZMM	11	1	0			c.C438T						PASS	.						13	15	14					19																	549011		2189	4274	6463	SO:0001819	synonymous_variant	3004	exon4			GTGCAGCATGGCC		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.438C>T	19.37:g.549011C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	11	0.106796	NM_005317		Silent	SNP	ENST00000264553.3	37	CCDS12031.1																																																																																			.	.	none		0.687	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		T	549011	C	T	549011	2	4	4	1	0	0	0	0	0	0	0	1	6919	709	25	2		2	GZMM	19	549011	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		549011	58579972	215	1076										
GADD45B	4616	hgsc.bcm.edu	37	chr19	2476602	2476602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gatcgcctcacagtgggggtGtacgagtcggccaagttgat	15	9	1	1	rs544016078	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:2476602G>A	ENST00000215631.4	+	2	352	c.120G>A	c.(118-120)gtG>gtA	p.V40V	GADD45B_ENST00000587345.1_Silent_p.V40V	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	40					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		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)		CAGTGGGGGTGTACGAGTCGG	0.652											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0008	0.0	5008	,	,		14231	0.001		0.0	False		,,,				2504	0.0				p.V40V		Atlas-SNP	.											.	GADD45B	6	.	0			c.G120A						PASS	.						76	65	69					19																	2476602		2203	4300	6503	SO:0001819	synonymous_variant	4616	exon2			GGGGGTGTACGAG	AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.120G>A	19.37:g.2476602G>A		Somatic	76	0	0	603	WXS	Illumina HiSeq	Phase_I	66	12	0.181818	NM_015675	A8KAM2|O75960|Q17R46	Silent	SNP	ENST00000215631.4	37	CCDS32868.1																																																																																			.	.	none		0.652	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		A	2476602	G	A	2476602	2	1	4	1	0	0	0	0	0	0	0	1	6182	1364	48	2		2	GADD45B	19	2476602	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1927591	2476602	56652381	216	1077										
KIAA1543	57662	hgsc.bcm.edu	37	chr19	7670117	7670117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tctatgcccccacagagcacGtgcccccggagctgtgggag	13	15	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:7670117G>T	ENST00000160298.4	+	2	255	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.V52L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	52					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACAGAGCACGTGCCCCCGGA	0.607																																					p.V52L		Atlas-SNP	.											KIAA1543,rectum,carcinoma,-2,4	CAMSAP3	131	4	0			c.G154T						PASS	.						107	117	114					19																	7670117		2016	4180	6196	SO:0001583	missense	57662	exon2			GAGCACGTGCCCC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.154G>T	19.37:g.7670117G>T	ENSP00000160298:p.Val52Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	69	4	0.057971	NM_020902	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	18.62	3.663861	0.67700	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.22539	1.98;1.95	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000003	T	0.47060	0.1425	M	0.73598	2.24	0.42982	D	0.994469	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.989	T	0.53872	-0.8377	10	0.72032	D	0.01	-29.4892	15.8571	0.78987	0.0:0.0:1.0:0.0	.	52;52	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	52	ENSP00000416797:V52L;ENSP00000160298:V52L	ENSP00000160298:V52L	V	+	1	0	KIAA1543	7576117	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	5.354000	0.66040	2.005000	0.58758	0.478000	0.44815	GTG	.	.	none		0.607	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		T	7670117	G	T	7670117	3	4	4	1	0	0	0	0	1	0	0	0	8243	1145	40	4	160	4	KIAA1543	19	7670117	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	5193515	7670117	51458866	217	1078										
MUC16	94025	hgsc.bcm.edu	37	chr19	9072256	9072256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgaagtcataggagaggagaGcttatcctctggtaaggtag	14	5	2	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:9072256G>T	ENST00000397910.4	-	3	15393	c.15190C>A	c.(15190-15192)Ctc>Atc	p.L5064I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5066	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGAGAGCTTATCCTCT	0.478																																					p.L5064I		Atlas-SNP	.											.	MUC16	4315	.	0			c.C15190A						PASS	.						122	112	115					19																	9072256		1940	4136	6076	SO:0001583	missense	94025	exon3			AGGAGAGCTTATC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15190C>A	19.37:g.9072256G>T	ENSP00000381008:p.Leu5064Ile	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	67	11	0.164179	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.778	0.144639	0.09134	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.74	-0.916	0.10489	.	.	.	.	.	T	0.07369	0.0186	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.31751	0.135	T	0.24404	-1.0161	8	0.87932	D	0	.	5.907	0.19006	0.0:0.0:0.4445:0.5555	.	5064	B5ME49	.	I	5064	ENSP00000381008:L5064I	ENSP00000381008:L5064I	L	-	1	0	MUC16	8933256	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-2.735000	0.00802	-0.101000	0.12219	0.282000	0.19409	CTC	.	.	none		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9072256	G	T	9072256	3	4	4	1	0	0	0	0	1	0	0	0	9973	971	34	4	28661	4	MUC16	19	9072256	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	1402139	9072256	50056727	218	1079										
OR7G3	390883	hgsc.bcm.edu	37	chr19	9236917	9236917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gtgacccgcagatggaaaaaGctttatactttccaccagct	8	11	0	2	rs61730387|rs75266995	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:9236917G>A	ENST00000305444.2	-	1	709	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237fs*9(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GATGGAAAAAGCTTTATACTT	0.448																																					p.A237V		Atlas-SNP	.											.	OR7G3	41	.	1	Deletion - Frameshift(1)	liver(1)	c.C710T						PASS	.						93	99	97					19																	9236917		2190	4290	6480	SO:0001583	missense	390883	exon1			GAAAAAGCTTTAT		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.710C>T	19.37:g.9236917G>A	ENSP00000302867:p.Ala237Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	104	6	0.0576923	NM_001001958	Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209809	0.79240	.	.	ENSG00000170920	ENST00000305444	T	0.00342	8.03	3.96	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.181685	0.25975	N	0.027104	T	0.00580	0.0019	M	0.79475	2.455	0.26503	N	0.974731	P	0.50710	0.938	P	0.57324	0.818	T	0.33111	-0.9881	10	0.66056	D	0.02	.	10.7615	0.46268	0.0964:0.0:0.9035:0.0	rs61730387	237	Q8NG95	OR7G3_HUMAN	V	237	ENSP00000302867:A237V	ENSP00000302867:A237V	A	-	2	0	OR7G3	9097917	0.979000	0.34478	0.007000	0.13788	0.341000	0.28922	3.298000	0.51818	1.038000	0.40049	0.551000	0.68910	GCT	G|0.935;A|0.065	0.065	strong		0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9236917	G	A	9236917	3	1	4	1	0	0	0	0	1	0	0	0	11224	971	34	2	231	2	OR7G3	19	9236917	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	164661	9236917	49892066	219	1080										
ZNF846	162993	hgsc.bcm.edu	37	chr19	9868728	9868728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaataaaagcttttccacacTccttacattcatatggcttt	4	10	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:9868728T>C	ENST00000397902.2	-	6	1438	c.1025A>G	c.(1024-1026)gAg>gGg	p.E342G	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	342					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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTTCCACACTCCTTACATTC	0.383																																					p.E342G		Atlas-SNP	.											.	ZNF846	61	.	0			c.A1025G						PASS	.						52	57	55					19																	9868728		2174	4292	6466	SO:0001583	missense	162993	exon6			CCACACTCCTTAC	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1025A>G	19.37:g.9868728T>C	ENSP00000380999:p.Glu342Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	15	0.1875	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	16.53	3.150075	0.57151	.	.	ENSG00000196605	ENST00000397902	T	0.07444	3.19	2.01	0.932	0.19466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	M	0.65320	2	0.09310	N	1	B	0.30793	0.295	B	0.30855	0.121	T	0.29731	-1.0002	8	.	.	.	.	5.5686	0.17184	0.2448:0.0:0.0:0.7551	.	342	Q147U1	ZN846_HUMAN	G	342	ENSP00000380999:E342G	.	E	-	2	0	ZNF846	9729728	0.000000	0.05858	0.012000	0.15200	0.932000	0.56968	-0.585000	0.05794	0.217000	0.20800	0.374000	0.22700	GAG	.	.	none		0.383	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9868728	T	C	9868728	3	2	4	1	0	0	0	0	1	0	0	0	18189	1551	54	3	580	3	ZNF846	19	9868728	Missense_Mutation	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	631811	9868728	49260255	220	1081										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12501852	12501852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaaatcaataaaggctttccCacatttgcatttatagggtt	7	7	1	0	rs200077318		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:12501852C>T	ENST00000430385.3	-	4	1560	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	ZNF799_ENST00000419318.1_Missense_Mutation_p.G422R|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	454					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGGCTTTCCCACATTTGCAT	0.383																																					p.G454R		Atlas-SNP	.											ZNF799_ENST00000430385,head_neck,carcinoma,0,2	ZNF799	111	2	0			c.G1360A						scavenged	.						75	80	78					19																	12501852		2202	4299	6501	SO:0001583	missense	90576	exon4			CTTTCCCACATTT	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1360G>A	19.37:g.12501852C>T	ENSP00000411084:p.Gly454Arg	Somatic	112	2	0.0178571		WXS	Illumina HiSeq	Phase_I	113	4	0.0353982	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033438	0.54896	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.21361	2.01;2.01	1.31	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.86097	2.795	0.31959	N	0.608702	B	0.19200	0.034	B	0.28849	0.095	T	0.34179	-0.9839	9	0.72032	D	0.01	.	5.5527	0.17099	0.0:0.6435:0.0:0.3565	.	454	Q96GE5	ZN799_HUMAN	R	422;454	ENSP00000415278:G422R;ENSP00000411084:G454R	ENSP00000415278:G422R	G	-	1	0	ZNF799	12362852	0.004000	0.15560	0.000000	0.03702	0.966000	0.64601	1.363000	0.34159	-0.271000	0.09272	0.430000	0.28490	GGG	.	.	weak		0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501852	C	T	12501852	3	4	4	1	0	0	0	0	1	0	0	0	18163	594	21	2	575	2	ZNF799	19	12501852	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2633124	12501852	46627131	221	1082										
AKAP8	10270	hgsc.bcm.edu	37	chr19	15484046	15484046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aagctgccattgcggtcggaCcccaggtcgaactcatagtc	11	13	1	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:15484046C>T	ENST00000269701.2	-	5	537	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	159					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCGGTCGGACCCCAGGTCGA	0.662																																					p.G159G	GBM(190;1671 2163 3274 27186 30476)	Atlas-SNP	.											.	AKAP8	68	.	0			c.G477A						PASS	.						31	36	34					19																	15484046		2203	4300	6503	SO:0001819	synonymous_variant	10270	exon5			GTCGGACCCCAGG	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.477G>A	19.37:g.15484046C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	97	17	0.175258	NM_005858		Silent	SNP	ENST00000269701.2	37	CCDS12329.1																																																																																			.	.	none		0.662	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		T	15484046	C	T	15484046	2	4	4	1	0	0	0	0	0	0	0	1	457	494	18	2		2	AKAP8	19	15484046	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	2982194	15484046	43644937	222	1083										
KLF2	10365	hgsc.bcm.edu	37	chr19	16436027	16436027	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cattgccctgtcgcccgcagCgctggccgcgcgccgaaccc	12	20	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:16436027C>T	ENST00000248071.5	+	2	183	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	KLF2_ENST00000592003.1_Intron|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	26					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						TCGCCCGCAGCGCTGGCCGCG	0.721																																					p.R26C		Atlas-SNP	.											.	KLF2	10	.	0			c.C76T						PASS	.						2	2	2					19																	16436027		1269	2632	3901	SO:0001630	splice_region_variant	10365	exon2			CCGCAGCGCTGGC	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.76-1C>T	19.37:g.16436027C>T		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	35	6	0.171429	NM_016270	Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	C	7.506	0.653605	0.14580	.	.	ENSG00000127528	ENST00000248071	T	0.18016	2.24	2.41	1.31	0.21738	.	.	.	.	.	T	0.15609	0.0376	M	0.64404	1.975	0.20403	N	0.99991	B	0.15473	0.013	B	0.08055	0.003	T	0.28364	-1.0046	8	.	.	.	.	4.9114	0.13823	0.0:0.6813:0.0:0.3187	.	26	Q9Y5W3	KLF2_HUMAN	C	26	ENSP00000248071:R26C	.	R	+	1	0	KLF2	16297027	1.000000	0.71417	0.987000	0.45799	0.016000	0.09150	0.844000	0.27654	0.221000	0.20879	-1.492000	0.00969	CGC	.	.	none		0.721	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1		Missense_Mutation	T	16436027	C	T	16436027	5	4	4	1	0	0	0	0	0	0	1	0	8346	782	27	1	82	1	KLF2	19	16436027	Splice_Site	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	951981	16436027	42692956	223	1084			3	7		3	3	807	N	G_C	1.99056e-05
KLF2	10365	hgsc.bcm.edu	37	chr19	16436806	16436806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcggcaagacctacaccaaGagttcgcatctgaaggcgca	11	12	1	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:16436806G>C	ENST00000248071.5	+	2	962	c.855G>C	c.(853-855)aaG>aaC	p.K285N	KLF2_ENST00000592003.1_Intron|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	285					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCTACACCAAGAGTTCGCATC	0.692																																					p.K285N		Atlas-SNP	.											.	KLF2	10	.	0			c.G855C						PASS	.						10	6	7					19																	16436806		2111	4164	6275	SO:0001583	missense	10365	exon2			CACCAAGAGTTCG	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.855G>C	19.37:g.16436806G>C	ENSP00000248071:p.Lys285Asn	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	31	9	0.290323	NM_016270	Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944729	0.53079	.	.	ENSG00000127528	ENST00000248071	T	0.36157	1.27	3.44	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59542	0.2201	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.67248	-0.5718	9	0.87932	D	0	.	14.2198	0.65818	0.0:0.0:1.0:0.0	.	285	Q9Y5W3	KLF2_HUMAN	N	285	ENSP00000248071:K285N	ENSP00000248071:K285N	K	+	3	2	KLF2	16297806	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	6.161000	0.71868	1.627000	0.50400	0.460000	0.39030	AAG	.	.	none		0.692	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			C	16436806	G	C	16436806	3	2	4	1	0	0	0	0	1	0	0	0	8346	933	33	4	861	4	KLF2	19	16436806	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	779	16436806	42692177	224	1085			3	7		3	3	807	N	G_C	1.99056e-05
KLF2	10365	hgsc.bcm.edu	37	chr19	16436833	16436833	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	catctgaaggcgcatctgcgCacgcacacaggtgggcggca	14	13	2	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:16436833C>G	ENST00000248071.5	+	2	989	c.882C>G	c.(880-882)cgC>cgG	p.R294R	KLF2_ENST00000592003.1_Intron|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	294					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CGCATCTGCGCACGCACACAG	0.662																																					p.R294R		Atlas-SNP	.											.	KLF2	10	.	0			c.C882G						PASS	.						8	5	6					19																	16436833		2066	4108	6174	SO:0001819	synonymous_variant	10365	exon2			TCTGCGCACGCAC	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.882C>G	19.37:g.16436833C>G		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	28	9	0.321429	NM_016270	Q6IPC4|Q9UJS5|Q9UKR6	Silent	SNP	ENST00000248071.5	37	CCDS12343.1																																																																																			.	.	none		0.662	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			G	16436833	C	G	16436833	2	3	4	1	0	0	0	0	0	0	0	1	8346	697	25	4		4	KLF2	19	16436833	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	27	16436833	42692150	225	1086			3	7		3	3	807	N	G_C	1.99056e-05
ZNF208	7757	hgsc.bcm.edu	37	chr19	22157028	22157028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cttatgtttagtaaggattgCagattggttaaaagccttgc	10	5	0	1	rs202182420		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:22157028C>A	ENST00000397126.4	-	4	956	c.808G>T	c.(808-810)Gca>Tca	p.A270S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAAGGATTGCAGATTGGTTA	0.363																																					p.A270S		Atlas-SNP	.											.	ZNF208	817	.	0			c.G808T						PASS	.						33	36	35					19																	22157028		2135	4261	6396	SO:0001583	missense	7757	exon4			GGATTGCAGATTG	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.808G>T	19.37:g.22157028C>A	ENSP00000380315:p.Ala270Ser	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.619833	0.00118	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12465	2.68	2.89	-5.78	0.02362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35773	-0.9775	8	0.02654	T	1	.	5.8775	0.18836	0.3922:0.3729:0.0:0.2349	.	270	O43345	ZN208_HUMAN	S	270	ENSP00000380315:A270S	ENSP00000380315:A270S	A	-	1	0	ZNF208	21948868	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.978000	0.01494	-2.348000	0.00619	-2.562000	0.00173	GCA	C|0.996;A|0.004	0.004	weak		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22157028	C	A	22157028	3	1	4	1	0	0	0	0	1	0	0	0	17763	710	25	4	3038	4	ZNF208	19	22157028	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	5720195	22157028	36971955	226	1087										
ZNF570	148268	hgsc.bcm.edu	37	chr19	37975034	37975034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gaatataaatcttggggaagTtttcatcagaacccactgct	8	8	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:37975034T>C	ENST00000330173.1	+	5	1039	c.510T>C	c.(508-510)agT>agC	p.S170S	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Silent_p.S226S	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGGGGAAGTTTTCATCAGA	0.363																																					p.S170S		Atlas-SNP	.											.	ZNF570	58	.	0			c.T510C						PASS	.						118	129	125					19																	37975034		2203	4300	6503	SO:0001819	synonymous_variant	148268	exon5			GGGAAGTTTTCAT	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.510T>C	19.37:g.37975034T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	81	18	0.222222	NM_144694	A1L472|B4DMP1	Silent	SNP	ENST00000330173.1	37	CCDS12504.1																																																																																			.	.	none		0.363	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		C	37975034	T	C	37975034	2	2	4	1	0	0	0	0	0	0	0	1	17999	1722	60	2		2	ZNF570	19	37975034	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	15818006	37975034	21153949	227	1088										
HIF3A	64344	hgsc.bcm.edu	37	chr19	46832549	46832549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	caacgccagcgagcagctacCcagggcctaccacagacctc	9	18	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:46832549C>T	ENST00000377670.4	+	12	1557	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	HIF3A_ENST00000300862.3_Missense_Mutation_p.P507L|HIF3A_ENST00000244303.6_Missense_Mutation_p.P440L|HIF3A_ENST00000600383.1_Missense_Mutation_p.P440L|HIF3A_ENST00000420102.2_Missense_Mutation_p.P458L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Missense_Mutation_p.P453L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	509	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGCAGCTACCCAGGGCCTAC	0.647																																					p.P509L		Atlas-SNP	.											.	HIF3A	154	.	0			c.C1526T						PASS	.						58	58	58					19																	46832549		2203	4300	6503	SO:0001583	missense	64344	exon12			AGCTACCCAGGGC	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1526C>T	19.37:g.46832549C>T	ENSP00000366898:p.Pro509Leu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	90	18	0.2	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574652	0.45902	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	4.82	3.72	0.42706	.	0.243027	0.21541	N	0.072885	T	0.82263	0.4999	N	0.22421	0.69	0.39731	D	0.971608	P;P;P;P;P;P	0.48089	0.782;0.905;0.573;0.77;0.626;0.626	B;B;B;P;B;B	0.48598	0.423;0.419;0.294;0.583;0.419;0.419	D	0.84495	0.0613	10	0.72032	D	0.01	.	10.954	0.47347	0.1862:0.8138:0.0:0.0	.	458;440;507;453;509;509	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	L	509;509;440;453;453;507;458	ENSP00000366898:P509L;ENSP00000244303:P440L;ENSP00000341877:P453L;ENSP00000300862:P507L;ENSP00000407771:P458L	ENSP00000244302:P509L	P	+	2	0	HIF3A	51524389	0.975000	0.34042	0.999000	0.59377	0.999000	0.98932	2.401000	0.44513	2.394000	0.81467	0.655000	0.94253	CCC	.	.	none		0.647	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			T	46832549	C	T	46832549	3	4	4	1	0	0	0	0	1	0	0	0	7105	623	22	2	1596	2	HIF3A	19	46832549	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	8857515	46832549	12296434	228	1089										
SIGLEC5	8778	hgsc.bcm.edu	37	chr19	52131127	52131127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	aaaatttgcaggaagcccagCgggtgctgagcgcggcaggt	16	9	0	1	rs528680868		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:52131127C>T	ENST00000534261.2	-	6	1356	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SIGLEC5_ENST00000429354.3_Silent_p.P319P|SIGLEC5_ENST00000222107.4_Silent_p.P319P|SIGLEC5_ENST00000599649.1_Silent_p.P319P|SIGLEC5_ENST00000570106.2_Silent_p.P319P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	319	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P319P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAAGCCCAGCGGGTGCTGAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.0		0.0	False		,,,				2504	0.001				p.P319P		Atlas-SNP	.											SIGLEC5,NS,carcinoma,0,2	SIGLEC5	67	2	1	Substitution - coding silent(1)	endometrium(1)	c.G957A						PASS	.						34	39	37					19																	52131127		2203	4300	6503	SO:0001819	synonymous_variant	8778	exon5			GCCCAGCGGGTGC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.957G>A	19.37:g.52131127C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	110	20	0.181818	NM_003830		Silent	SNP	ENST00000534261.2	37	CCDS33088.1																																																																																			.	.	none		0.557	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		T	52131127	C	T	52131127	2	4	4	1	0	0	0	0	0	0	0	1	14311	755	27	1		1	SIGLEC5	19	52131127	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	5298578	52131127	6997856	229	1090										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52887146	52887146	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgccggaaacaagtctcttAaaaatcaacttggattaacc	6	9	2	0	rs398101268|rs34470614		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:52887146A>T	ENST00000422689.2	+	4	328	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	105					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAAGTCTCTTAAAAATCAACT	0.368																																					p.K105X		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,1	ZNF880	45	1	0			c.A313T						scavenged	.						61	45	50					19																	52887146		690	1569	2259	SO:0001587	stop_gained	400713	exon4			TCTCTTAAAAATC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.313A>T	19.37:g.52887146A>T	ENSP00000406318:p.Lys105*	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	209	9	0.0430622	NM_001145434	B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	8.517	0.867766	0.17250	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.6	-2.54	0.06307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7816	0.03033	0.4842:0.0:0.2398:0.276	.	.	.	.	X	105	.	ENSP00000406318:K105X	K	+	1	0	ZNF880	57578958	0.000000	0.05858	0.006000	0.13384	0.124000	0.20399	-1.231000	0.02939	-0.761000	0.04670	0.368000	0.22195	AAA	.	.	none		0.368	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		T	52887146	A	T	52887146	4	4	4	1	0	0	0	0	0	1	0	0	18194	363	13	5	327	5	ZNF880	19	52887146	Nonsense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	756019	52887146	6241837	230	1091										
ZNF534	147658	hgsc.bcm.edu	37	chr19	52941505	52941505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gcacaacatcagaaaattcaTactggacagaaaccttacaa	5	10	2	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:52941505T>C	ENST00000332323.6	+	4	892	c.831T>C	c.(829-831)caT>caC	p.H277H	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.H264H	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGAAAATTCATACTGGACAGA	0.383																																					p.H277H		Atlas-SNP	.											.	ZNF534	105	.	0			c.T831C						PASS	.						54	49	50					19																	52941505		1568	3582	5150	SO:0001819	synonymous_variant	147658	exon4			AATTCATACTGGA	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.831T>C	19.37:g.52941505T>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	65	15	0.230769	NM_001143939	Q76KX9	Silent	SNP	ENST00000332323.6	37	CCDS46165.1																																																																																			.	.	none		0.383	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		C	52941505	T	C	52941505	2	2	4	1	0	0	0	0	0	0	0	1	17970	1403	49	2		2	ZNF534	19	52941505	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	54359	52941505	6187478	231	1092										
TNNT1	7138	hgsc.bcm.edu	37	chr19	55645539	55645539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ttctccctggcagggcaggaGggctgtgatggaggcagcca	17	10	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:55645539G>A	ENST00000588981.1	-	12	849	c.645C>T	c.(643-645)ccC>ccT	p.P215P	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000536926.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	215					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGGGCAGGAGGGCTGTGATG	0.617																																					p.P215P		Atlas-SNP	.											.	TNNT1	28	.	0			c.C645T						PASS	.						23	21	22					19																	55645539		2199	4295	6494	SO:0001819	synonymous_variant	7138	exon12			GCAGGAGGGCTGT		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.645C>T	19.37:g.55645539G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	40	7	0.175	NM_003283	O95472|Q16061|Q5U0E1	Silent	SNP	ENST00000588981.1	37	CCDS12917.1																																																																																			.	.	none		0.617	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		A	55645539	G	A	55645539	2	1	4	1	0	0	0	0	0	0	0	1	16327	987	35	2		2	TNNT1	19	55645539	Silent	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2704034	55645539	3483444	232	1093										
SUV420H2	84787	hgsc.bcm.edu	37	chr19	55853653	55853653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ctttcctgaggcagcgggacCtggaggctgcgtaccgggcc	16	13	0	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:55853653C>A	ENST00000255613.3	+	3	429	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	61					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCAGCGGGACCTGGAGGCTGC	0.721																																					p.L61M		Atlas-SNP	.											.	SUV420H2	20	.	0			c.C181A						PASS	.						8	9	9					19																	55853653		2173	4274	6447	SO:0001583	missense	84787	exon3			CGGGACCTGGAGG	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.181C>A	19.37:g.55853653C>A	ENSP00000255613:p.Leu61Met	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	91	5	0.0549451	NM_032701	Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559480	0.65538	.	.	ENSG00000133247	ENST00000255613	.	.	.	4.41	3.34	0.38264	.	0.183772	0.36066	N	0.002806	T	0.68906	0.3052	L	0.54323	1.7	0.40803	D	0.983356	D	0.76494	0.999	D	0.70227	0.968	T	0.71504	-0.4573	9	0.59425	D	0.04	-28.7158	12.7082	0.57073	0.1667:0.8333:0.0:0.0	.	61	Q86Y97	SV422_HUMAN	M	61	.	ENSP00000255613:L61M	L	+	1	2	SUV420H2	60545465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.898000	0.28404	0.938000	0.37419	0.561000	0.74099	CTG	.	.	none		0.721	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		A	55853653	C	A	55853653	3	1	4	1	0	0	0	0	1	0	0	0	15412	680	24	4	187	4	SUV420H2	19	55853653	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	208114	55853653	3275330	233	1094										
ZNF530	348327	hgsc.bcm.edu	37	chr19	58117726	58117726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgtgggaaatcatttagtcGcaaaactcacctaactcaac	6	10	3	0	rs201516823		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr19:58117726G>A	ENST00000332854.6	+	3	1053	c.833G>A	c.(832-834)cGc>cAc	p.R278H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCATTTAGTCGCAAAACTCAC	0.438																																					p.R278H		Atlas-SNP	.											.	ZNF530	71	.	0			c.G833A						PASS	.						94	81	85					19																	58117726		2203	4300	6503	SO:0001583	missense	348327	exon3			TTAGTCGCAAAAC	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.833G>A	19.37:g.58117726G>A	ENSP00000332861:p.Arg278His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	62	10	0.16129	NM_020880	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	5.242	0.230126	0.09969	.	.	ENSG00000183647	ENST00000332854	T	0.07327	3.2	1.51	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.52266	1.64	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47262	-0.9131	9	0.11485	T	0.65	.	3.3452	0.07132	0.2697:0.0:0.4615:0.2688	.	278	Q6P9A1	ZN530_HUMAN	H	278	ENSP00000332861:R278H	ENSP00000332861:R278H	R	+	2	0	ZNF530	62809538	0.000000	0.05858	0.002000	0.10522	0.199000	0.23934	-1.220000	0.02971	-0.684000	0.05183	0.537000	0.68136	CGC	G|0.999;A|0.001	0.001	weak		0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		A	58117726	G	A	58117726	3	1	4	1	0	0	0	0	1	0	0	0	17968	1087	38	1	843	1	ZNF530	19	58117726	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	2264073	58117726	1011257	234	1095										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895963	1895963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tttcagacctcacaaagagaAacaacatggacttttccatc	5	11	2	2	rs373583167|rs386811662|rs17855613	byFrequency	TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr20:1895963A>G	ENST00000358771.4	+	2	450	c.298A>G	c.(298-300)Aac>Gac	p.N100D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CACAAAGAGAAACAACATGGA	0.522																																					p.N100D	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,-2,4	SIRPA	83	4	0			c.A298G						scavenged	.																																			SO:0001583	missense	140885	exon3			AAGAGAAACAACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.298A>G	20.37:g.1895963A>G	ENSP00000351621:p.Asn100Asp	Somatic	132	17	0.128788		WXS	Illumina HiSeq	Phase_I	104	13	0.125	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430951	0.25726	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02236	4.38;4.38;4.38	5.11	-5.69	0.02428	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.03651	0.0104	L	0.55481	1.735	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.0	B;B;B	0.24701	0.004;0.055;0.007	T	0.41875	-0.9484	10	0.51188	T	0.08	.	10.2665	0.43457	0.2384:0.1377:0.6239:0.0	rs17855613	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	100	ENSP00000382941:N100D;ENSP00000348307:N100D;ENSP00000351621:N100D	ENSP00000348307:N100D	N	+	1	0	SIRPA	1843963	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.479000	0.02327	-1.294000	0.02360	-0.388000	0.06559	AAC	.	.	weak		0.522	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895963	A	G	1895963	3	3	4	1	0	0	0	0	1	0	0	0	14332	14	1	2	304	2	SIRPA	20	1895963	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10		1895963	61129557	235	1096										
SPTLC3	55304	hgsc.bcm.edu	37	chr20	13107302	13107302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tgcttcatccatgagcccacCgatagcagagcaaatcatca	7	13	3	2			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr20:13107302C>T	ENST00000399002.2	+	9	1491	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	406					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATGAGCCCACCGATAGCAGAG	0.463																																					p.P406L		Atlas-SNP	.											.	SPTLC3	78	.	0			c.C1217T						PASS	.						227	213	218					20																	13107302		1937	4135	6072	SO:0001583	missense	55304	exon9			GCCCACCGATAGC	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1217C>T	20.37:g.13107302C>T	ENSP00000381968:p.Pro406Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	82	17	0.207317	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.688150|4.688150	0.88639|0.88639	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.94184|.	-3.37|.	6.17|6.17	5.23|5.23	0.72850|0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.187728|.	0.64402|.	D|.	0.000016|.	T|.	0.77458|.	0.4133|.	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70935|.	0.971|.	T|.	0.79741|.	-0.1676|.	10|.	0.87932|.	D|.	0|.	-5.7364|-5.7364	14.6875|14.6875	0.69059|0.69059	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	406|.	Q9NUV7|.	SPTC3_HUMAN|.	L|X	406|4	ENSP00000381968:P406L|.	ENSP00000381968:P406L|.	P|R	+|+	2|1	0|2	SPTLC3|SPTLC3	13055302|13055302	0.977000|0.977000	0.34250|0.34250	0.122000|0.122000	0.21767|0.21767	0.929000|0.929000	0.56500|0.56500	6.079000|6.079000	0.71291|0.71291	1.598000|1.598000	0.50083|0.50083	0.655000|0.655000	0.94253|0.94253	CCG|CGA	.	.	none		0.463	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		T	13107302	C	T	13107302	3	4	4	1	0	0	0	0	1	0	0	0	15124	652	23	1	1251	1	SPTLC3	20	13107302	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	11211339	13107302	49918218	236	1097										
SSTR4	6754	hgsc.bcm.edu	37	chr20	23016253	23016253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggcccggggacgcgcgggcgGcgggcatggtcgctatccag	20	13	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr20:23016253G>A	ENST00000255008.3	+	1	197	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	45					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					cgcgcgggcggcgggcATGGT	0.706																																					p.A45T	Esophageal Squamous(15;850 1104 16640)	Atlas-SNP	.											SSTR4,NS,carcinoma,-1,1	SSTR4	83	1	0			c.G133A						scavenged	.						34	44	40					20																	23016253		2158	4263	6421	SO:0001583	missense	6754	exon1			CGGGCGGCGGGCA		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.133G>A	20.37:g.23016253G>A	ENSP00000255008:p.Ala45Thr	Somatic	59	1	0.0169492		WXS	Illumina HiSeq	Phase_I	66	20	0.30303	NM_001052	Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170408	0.57584	.	.	ENSG00000132671	ENST00000255008	T	0.19806	2.12	3.57	3.57	0.40892	.	0.492039	0.15989	N	0.234938	T	0.14313	0.0346	L	0.27053	0.805	0.34943	D	0.750537	B	0.14805	0.011	B	0.12837	0.008	T	0.13495	-1.0507	10	0.15066	T	0.55	.	12.452	0.55682	0.0:0.0:1.0:0.0	.	45	P31391	SSR4_HUMAN	T	45	ENSP00000255008:A45T	ENSP00000255008:A45T	A	+	1	0	SSTR4	22964253	0.002000	0.14202	0.009000	0.14445	0.327000	0.28475	1.133000	0.31430	1.806000	0.52798	0.555000	0.69702	GCG	.	.	none		0.706	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016253	G	A	23016253	3	1	4	1	0	0	0	0	1	0	0	0	15199	1203	42	2	135	2	SSTR4	20	23016253	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	9908951	23016253	40009267	237	1098										
SSTR4	6754	hgsc.bcm.edu	37	chr20	23016714	23016714	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	ggcggccaggccgtggcctgCaacctgcagtggccacaccc	14	17	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr20:23016714C>A	ENST00000255008.3	+	1	658	c.594C>A	c.(592-594)tgC>tgA	p.C198*	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	198					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCGTGGCCTGCAACCTGCAGT	0.657																																					p.C198X	Esophageal Squamous(15;850 1104 16640)	Atlas-SNP	.											.	SSTR4	83	.	0			c.C594A						PASS	.						30	38	35					20																	23016714		2135	4242	6377	SO:0001587	stop_gained	6754	exon1			GGCCTGCAACCTG		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.594C>A	20.37:g.23016714C>A	ENSP00000255008:p.Cys198*	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	16	5	0.3125	NM_001052	Q17RM1|Q17RM3|Q9UIY1	Nonsense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810719	0.90707	.	.	ENSG00000132671	ENST00000255008	.	.	.	3.21	1.21	0.21127	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5942	0.28037	0.0:0.7766:0.0:0.2234	.	.	.	.	X	198	.	ENSP00000255008:C198X	C	+	3	2	SSTR4	22964714	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	2.053000	0.41326	0.091000	0.17302	0.655000	0.94253	TGC	.	.	none		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016714	C	A	23016714	4	1	4	1	0	0	0	0	0	1	0	0	15199	718	25	4	596	4	SSTR4	20	23016714	Nonsense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	461	23016714	40008806	238	1099										
ICOSLG	23308	hgsc.bcm.edu	37	chr21	45656994	45656994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gttttcgactcactggtttgCcaatatacgtaaacatcatt	6	9	2	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr21:45656994C>T	ENST00000407780.3	-	3	289	c.162G>A	c.(160-162)tgG>tgA	p.W54*	ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.W54*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.W54*|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	54	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CACTGGTTTGCCAATATACGT	0.527																																					p.W54X		Atlas-SNP	.											.	ICOSLG	20	.	0			c.G162A						PASS	.						92	108	102					21																	45656994		2125	4233	6358	SO:0001587	stop_gained	23308	exon3			GGTTTGCCAATAT	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.162G>A	21.37:g.45656994C>T	ENSP00000384432:p.Trp54*	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_015259	A8MUZ1|Q9HD18|Q9NRQ1	Nonsense_Mutation	SNP	ENST00000407780.3	37	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453793	0.84209	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	.	.	.	5.01	5.01	0.66863	.	0.000000	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.5671	14.542	0.68002	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000339477:W54X	W	-	3	0	ICOSLG	44481422	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	3.355000	0.52262	2.713000	0.92767	0.655000	0.94253	TGG	.	.	none		0.527	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		T	45656994	C	T	45656994	4	4	4	1	0	0	0	0	0	1	0	0	7487	740	26	2	766	2	ICOSLG	21	45656994	Nonsense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		45656994	2472901	239	1100										
PATZ1	23598	hgsc.bcm.edu	37	chr22	31741415	31741415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tactcgctgcaggcggccagCacggcgcggtgcgctgggaa	17	13	0	0			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr22:31741415C>T	ENST00000266269.5	-	1	803	c.174G>A	c.(172-174)gtG>gtA	p.V58V	PATZ1_ENST00000351933.4_Silent_p.V58V|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Silent_p.V58V|PATZ1_ENST00000405309.3_Silent_p.V58V	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	58	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGGCGGCCAGCACGGCGCGGT	0.682																																					p.V58V		Atlas-SNP	.											.	PATZ1	24	.	0			c.G174A						PASS	.						22	22	22					22																	31741415		2203	4296	6499	SO:0001819	synonymous_variant	23598	exon1			GGCCAGCACGGCG	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.174G>A	22.37:g.31741415C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	70	9	0.128571	NM_032050	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	CCDS13894.1																																																																																			.	.	none		0.682	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		T	31741415	C	T	31741415	2	4	4	1	0	0	0	0	0	0	0	1	11476	697	25	2		2	PATZ1	22	31741415	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		31741415	19563151	240	1101										
ATF4	468	hgsc.bcm.edu	37	chr22	39917610	39917610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgggttctccagcgacaagGctaaggcgggctcctccgaa	13	12	1	0	rs148038848		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr22:39917610G>A	ENST00000337304.2	+	1	1042	c.160G>A	c.(160-162)Gct>Act	p.A54T	ATF4_ENST00000404241.2_Missense_Mutation_p.A54T|ATF4_ENST00000396680.1_Missense_Mutation_p.A54T	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	54					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CAGCGACAAGGCTAAGGCGGG	0.582																																					p.A54T		Atlas-SNP	.											.	ATF4	27	.	0			c.G160A						PASS	.	G	THR/ALA,THR/ALA	1,4405		0,1,2202	50	52	51		160,160	4.2	1	22	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	ATF4	NM_001675.2,NM_182810.1	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	54/352,54/352	39917610	1,13005	2203	4300	6503	SO:0001583	missense	468	exon1			GACAAGGCTAAGG	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.160G>A	22.37:g.39917610G>A	ENSP00000336790:p.Ala54Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	99	23	0.232323	NM_001675	Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494153	0.85069	2.27E-4	0.0	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.46819	0.86;0.86;0.86	4.15	4.15	0.48705	.	0.257440	0.37669	N	0.001990	T	0.68751	0.3035	M	0.75264	2.295	0.52501	D	0.999956	D	0.89917	1.0	D	0.83275	0.996	T	0.74970	-0.3482	10	0.87932	D	0	-16.9756	16.4315	0.83847	0.0:0.0:1.0:0.0	.	54	P18848	ATF4_HUMAN	T	54	ENSP00000384587:A54T;ENSP00000336790:A54T;ENSP00000379912:A54T	ENSP00000336790:A54T	A	+	1	0	ATF4	38247556	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.442000	0.73443	1.863000	0.54032	0.561000	0.74099	GCT	G|1.000;A|0.000	0.000	weak		0.582	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		A	39917610	G	A	39917610	3	1	4	1	0	0	0	0	1	0	0	0	1082	1203	42	2	162	2	ATF4	22	39917610	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	8176195	39917610	11386956	241	1102										
ARHGAP8	23779	hgsc.bcm.edu	37	chr22	45241156	45241156	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tctgttttctcagcctcaaaGacaaaaatcaaggcgaactc	6	11	4	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chr22:45241156G>C	ENST00000389774.2	+	9	838	c.697G>C	c.(697-699)Gac>Cac	p.D233H	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.D202H|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.D324H|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.D202H|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.D412H|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.D412H|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.D333H	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	233	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGCCTCAAAGACAAAAATCA	0.522																																					p.D324H		Atlas-SNP	.											.	PRR5-ARHGAP8	53	.	0			c.G970C						PASS	.						71	69	69					22																	45241156		2203	4300	6503	SO:0001583	missense	553158	exon11			CTCAAAGACAAAA	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.697G>C	22.37:g.45241156G>C	ENSP00000374424:p.Asp233His	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	54	14	0.259259	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.42|15.42	2.827083|2.827083	0.50739|0.50739	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099|ENST00000515632	T;T;T;T;T;T;T|T	0.42131|0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98|0.98	3.95|3.95	3.95|3.95	0.45737|0.45737	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);|.	0.513253|.	0.14386|.	U|.	0.322816|.	T|T	0.37376|0.37376	0.1001|0.1001	L|L	0.38531|0.38531	1.155|1.155	0.36768|0.36768	D|D	0.883623|0.883623	B;B;P;B;B;D;B|.	0.52996|.	0.086;0.012;0.93;0.026;0.086;0.957;0.167|.	B;B;P;B;B;P;B|.	0.48030|.	0.025;0.009;0.564;0.014;0.035;0.525;0.042|.	T|T	0.30297|0.30297	-0.9983|-0.9983	10|7	0.46703|0.19590	T|T	0.11|0.45	.|.	9.5957|9.5957	0.39573|0.39573	0.0:0.2139:0.7861:0.0|0.0:0.2139:0.7861:0.0	.|.	238;202;238;233;243;412;333|.	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3|.	.;.;.;RHG08_HUMAN;.;.;.|.	H|N	333;412;412;324;233;202;202|255	ENSP00000354732:D333H;ENSP00000262731:D412H;ENSP00000429240:D412H;ENSP00000374423:D324H;ENSP00000374424:D233H;ENSP00000337287:D202H;ENSP00000348407:D202H|ENSP00000425026:K255N	ENSP00000337287:D202H|ENSP00000425026:K255N	D|K	+|+	1|3	0|2	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43619820|43619820	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.745000|0.745000	0.42441|0.42441	4.689000|4.689000	0.61723|0.61723	2.036000|2.036000	0.60181|0.60181	0.655000|0.655000	0.94253|0.94253	GAC|AAG	.	.	none		0.522	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		C	45241156	G	C	45241156	3	2	4	1	0	0	0	0	1	0	0	0	888	942	33	4	727	4	ARHGAP8	22	45241156	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	5323546	45241156	6063410	242	1103										
SFRS17A	8227	hgsc.bcm.edu	37	chrX	1718203	1718203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atcagaagaagctggagaagCtgcaggcggaggagcagaag	17	6	1	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:1718203C>G	ENST00000313871.3	+	4	1226	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L344V	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	344					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCTGGAGAAGCTGCAGGCGGA	0.597																																					p.L344V		Atlas-SNP	.											.	AKAP17A	46	.	0			c.C1030G						PASS	.						74	78	76					X																	1718203		2203	4296	6499	SO:0001583	missense	8227	exon4			GAGAAGCTGCAGG	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1030C>G	X.37:g.1718203C>G	ENSP00000324827:p.Leu344Val	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	113	20	0.176991	NM_005088	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	0.213	-1.034755	0.02029	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.34667	1.44;1.35	1.74	-3.48	0.04739	.	0.366735	0.22112	U	0.064477	T	0.14960	0.0361	.	.	.	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.21708	0.036;0.015	T	0.20706	-1.0267	9	0.15952	T	0.53	.	4.6949	0.12799	0.4003:0.4443:0.0:0.1555	.	344;344	Q02040-3;Q02040	.;AK17A_HUMAN	V	344	ENSP00000324827:L344V;ENSP00000370660:L344V	ENSP00000324827:L344V	L	+	1	2	AKAP17A	1678203	1.000000	0.71417	0.039000	0.18376	0.497000	0.33675	0.985000	0.29578	-0.165000	0.10908	0.100000	0.15512	CTG	.	.	none		0.597	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		G	1718203	C	G	1718203	3	3	4	1	0	0	0	0	1	0	0	0	14173	796	28	4	1040	4	SFRS17A	23	1718203	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10		1718203	153552357	243	1104										
TMSB4X	7114	hgsc.bcm.edu	37	chrX	12994468	12994468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgcaagagaaaaatccactgCcttccaaagaaagtgagctc	8	11	0	3			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:12994468C>A	ENST00000380635.1	+	2	304	c.88C>A	c.(88-90)Cct>Act	p.P30T	TMSB4X_ENST00000380633.1_Missense_Mutation_p.P30T|TMSB4X_ENST00000451311.2_Missense_Mutation_p.P30T|TMSB4X_ENST00000380636.1_Missense_Mutation_p.P30T			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	30					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						AAATCCACTGCCTTCCAAAGA	0.557																																					p.P30T		Atlas-SNP	.											.	TMSB4X	3	.	0			c.C88A						PASS	.						49	46	47					X																	12994468		2203	4300	6503	SO:0001583	missense	7114	exon2			CCACTGCCTTCCA		CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.88C>A	X.37:g.12994468C>A	ENSP00000370009:p.Pro30Thr	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	146	55	0.376712	NM_021109	P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	ENST00000380635.1	37	CCDS35202.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676205	0.67928	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	4.53	4.53	0.55603	.	0.000000	0.64402	U	0.000010	D	0.93719	0.7993	.	.	.	0.53688	D	0.999977	P	0.41597	0.756	P	0.52909	0.713	D	0.94659	0.7846	9	0.72032	D	0.01	-19.0029	16.916	0.86152	0.0:1.0:0.0:0.0	.	30	P62328	TYB4_HUMAN	T	30	ENSP00000414376:P30T;ENSP00000370010:P30T;ENSP00000370009:P30T;ENSP00000370007:P30T	ENSP00000370007:P30T	P	+	1	0	TMSB4X	12904389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.858000	0.75461	1.999000	0.58509	0.513000	0.50165	CCT	.	.	none		0.557	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055779.1	NM_021109		A	12994468	C	A	12994468	3	1	4	1	0	0	0	0	1	0	0	0	16254	739	26	4	90	4	TMSB4X	23	12994468	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	11276265	12994468	142276092	244	1105										
GPR34	2857	hgsc.bcm.edu	37	chrX	41555136	41555136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atgtatttctgggtattcacCgtaaaagaaattccattcaa	6	7	3	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:41555136C>T	ENST00000378142.4	+	3	534	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84C|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGGTATTCACCGTAAAAGAAA	0.383																																					p.R84C		Atlas-SNP	.											.	GPR34	42	.	0			c.C250T						PASS	.						112	101	105					X																	41555136		2203	4300	6503	SO:0001583	missense	2857	exon3			ATTCACCGTAAAA	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.250C>T	X.37:g.41555136C>T	ENSP00000367384:p.Arg84Cys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	106	44	0.415094	NM_001097579	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922125	0.33908	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.73575	-0.76;-0.76	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.199385	0.46758	D	0.000278	T	0.69788	0.3150	M	0.77103	2.36	0.41855	D	0.990198	P	0.36162	0.54	B	0.27076	0.076	T	0.74609	-0.3608	10	0.87932	D	0	-12.6129	8.3959	0.32557	0.1551:0.7665:0.0:0.0785	.	84	Q9UPC5	GPR34_HUMAN	C	84;84;37	ENSP00000367384:R84C;ENSP00000367378:R84C	ENSP00000367378:R84C	R	+	1	0	GPR34	41440080	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	1.419000	0.34793	2.466000	0.83321	0.594000	0.82650	CGT	.	.	none		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		T	41555136	C	T	41555136	3	4	4	1	0	0	0	0	1	0	0	0	6689	652	23	1	252	1	GPR34	23	41555136	Missense_Mutation	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	28560668	41555136	113715424	245	1106										
SLC9A7	84679	hgsc.bcm.edu	37	chrX	46618168	46618168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	atggccagcccggtctcgtgCagaaagcgcacccggcggtg	15	14	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:46618168C>T	ENST00000328306.4	-	1	322	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	99					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CGGTCTCGTGCAGAAAGCGCA	0.677																																					p.L99L	Pancreas(118;454 1696 1930 13865 39976)	Atlas-SNP	.											.	SLC9A7	73	.	0			c.G297A						PASS	.						47	34	38					X																	46618168		2203	4300	6503	SO:0001819	synonymous_variant	84679	exon1			CTCGTGCAGAAAG	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.297G>A	X.37:g.46618168C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_001257291	O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	CCDS14269.1																																																																																			.	.	none		0.677	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		T	46618168	C	T	46618168	2	4	4	1	0	0	0	0	0	0	0	1	14719	697	25	2		2	SLC9A7	23	46618168	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	5063032	46618168	108652392	246	1107										
BMP15	9210	hgsc.bcm.edu	37	chrX	50659592	50659592	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gagggtatgattgctgagtcTtgtacatgcagatgacagca	13	6	1	4			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:50659592T>C	ENST00000252677.3	+	2	1164	c.1164T>C	c.(1162-1164)tcT>tcC	p.S388S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	388					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TTGCTGAGTCTTGTACATGCA	0.418																																					p.S388S		Atlas-SNP	.											.	BMP15	62	.	0			c.T1164C						PASS	.						106	97	100					X																	50659592		2203	4299	6502	SO:0001819	synonymous_variant	9210	exon2			TGAGTCTTGTACA	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1164T>C	X.37:g.50659592T>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	33	0.515625	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	CCDS14334.1																																																																																			.	.	none		0.418	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		C	50659592	T	C	50659592	2	2	4	1	0	0	0	0	0	0	0	1	1458	1596	56	3		3	BMP15	23	50659592	Silent	SNP	T	TCGA-FA-A6HN-01A-11D-A31X-10	4041424	50659592	104610968	247	1108										
ANKRD58	347454	hgsc.bcm.edu	37	chrX	118893023	118893023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	cgctatgaggtgctgcgggaGctgctggaggctgagccgga	19	9	0	2	rs373940647		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:118893023G>C	ENST00000343905.3	+	1	448	c.393G>C	c.(391-393)gaG>gaC	p.E131D		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	131																	TGCTGCGGGAGCTGCTGGAGG	0.721																																					p.E131D		Atlas-SNP	.											.	.	.	.	0			c.G393C						PASS	.		ASP/GLU	0,3633		0,0,0,1549,535	5	7	6		393	3.8	1	X		6	1,6518		0,0,1,2390,1738	no	missense	ANKRD58	NM_001105576.2	45	0,0,1,3939,2273	CC,CG,C,GG,G		0.0153,0.0,0.0099	probably-damaging	131/316	118893023	1,10151	2084	4129	6213	SO:0001583	missense	347454	exon1			GCGGGAGCTGCTG		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.393G>C	X.37:g.118893023G>C	ENSP00000340975:p.Glu131Asp	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	26	5	0.192308	NM_001105576		Missense_Mutation	SNP	ENST00000343905.3	37	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708542	0.48517	0.0	1.53E-4	ENSG00000187808	ENST00000343905	T	0.64803	-0.12	3.84	3.84	0.44239	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.68879	0.3049	L	0.52206	1.635	0.31372	N	0.680013	D	0.61697	0.99	P	0.60286	0.872	T	0.67620	-0.5624	9	0.23302	T	0.38	-10.3977	13.7024	0.62618	0.0:0.0:1.0:0.0	.	131	A6NJG2	ANR58_HUMAN	D	131	ENSP00000340975:E131D	ENSP00000340975:E131D	E	+	3	2	ANKRD58	118777051	0.998000	0.40836	0.998000	0.56505	0.898000	0.52572	1.055000	0.30467	1.767000	0.52121	0.183000	0.17082	GAG	.	.	weak		0.721	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		C	118893023	G	C	118893023	3	2	4	1	0	0	0	0	1	0	0	0	684	962	34	4	395	4	ANKRD58	23	118893023	Missense_Mutation	SNP	G	TCGA-FA-A6HN-01A-11D-A31X-10	68233431	118893023	36377537	248	1109										
BRS3	680	hgsc.bcm.edu	37	chrX	135574270	135574270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	gccatgcatttcattttcacCattttctctcgggttttggc	7	11	3	0	rs369993360		TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:135574270C>T	ENST00000370648.3	+	3	1164	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	312					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCATTTTCACCATTTTCTCTC	0.448																																					p.T312T		Atlas-SNP	.											.	BRS3	62	.	0			c.C936T						PASS	.						271	237	248					X																	135574270		2203	4300	6503	SO:0001819	synonymous_variant	680	exon3			TTTCACCATTTTC		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.936C>T	X.37:g.135574270C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_001727		Silent	SNP	ENST00000370648.3	37	CCDS14656.1																																																																																			.	.	alt		0.448	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		T	135574270	C	T	135574270	2	4	4	1	0	0	0	0	0	0	0	1	1522	581	21	2		2	BRS3	23	135574270	Silent	SNP	C	TCGA-FA-A6HN-01A-11D-A31X-10	16681247	135574270	19696290	249	1110										
GDI1	2664	hgsc.bcm.edu	37	chrX	153670076	153670076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	9	1	0.585741290845261	1.5945179584121	0.388906819124902	1	1	0	tatccttagccaccccatcaAgaacaccaacgacgccaact	4	17	1	1			TCGA-FA-A6HN-01A-11D-A31X-10	TCGA-FA-A6HN-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	01217848-97f3-4995-89c8-3b0cf9527c40	6c06b9ec-6df2-4029-9b30-c38448f9637f	g.chrX:153670076A>G	ENST00000447750.2	+	8	1261	c.926A>G	c.(925-927)aAg>aGg	p.K309R	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	309					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCCCATCAAGAACACCAAC	0.577																																					p.K309R		Atlas-SNP	.											.	GDI1	36	.	0			c.A926G						PASS	.						166	139	148					X																	153670076		2203	4300	6503	SO:0001583	missense	2664	exon8			CCATCAAGAACAC	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.926A>G	X.37:g.153670076A>G	ENSP00000394071:p.Lys309Arg	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	137	29	0.211679	NM_001493	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.912341	0.52439	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.59364	0.27	5.43	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	L	0.39397	1.21	0.51767	D	0.999934	B	0.02656	0.0	B	0.09377	0.004	T	0.31166	-0.9953	10	0.66056	D	0.02	-30.0025	7.5464	0.27770	0.8186:0.0:0.1814:0.0	.	309	P31150	GDIA_HUMAN	R	309;293	ENSP00000394071:K309R	ENSP00000358756:K293R	K	+	2	0	GDI1	153323270	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.797000	0.55514	0.231000	0.21079	-0.424000	0.05967	AAG	.	.	none		0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		G	153670076	A	G	153670076	3	3	4	1	0	0	0	0	1	0	0	0	6320	72	3	3	956	3	GDI1	23	153670076	Missense_Mutation	SNP	A	TCGA-FA-A6HN-01A-11D-A31X-10	18095806	153670076	1600484	250	1111										
AIM1L	55057	hgsc.bcm.edu	37	chr1	26655287	26655287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccctcggcttgcaggctccgCacctccctgctgagctcgat	10	18	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:26655287C>T	ENST00000308182.5	-	15	1686	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	AIM1L_ENST00000527815.1_Silent_p.V590V			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	419	Beta/gamma crystallin 'Greek key' 9. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCAGGCTCCGCACCTCCCTGC	0.602																																					p.V1464V		Atlas-SNP	.											.	AIM1L	98	.	0			c.G4392A						PASS	.						144	122	129					1																	26655287		2203	4300	6503	SO:0001819	synonymous_variant	55057	exon16			GCTCCGCACCTCC			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1257G>A	1.37:g.26655287C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_001039775	B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37																																																																																				.	.	none		0.602	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		T	26655287	C	T	26655287	2	4	5	1	0	0	0	0	0	0	0	1	431	697	25	2		2	AIM1L	1	26655287	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		26655287	222595334	1	1112										
ZC3H12A	80149	hgsc.bcm.edu	37	chr1	37948367	37948367	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcacctatgggatcaagtgcCgattcttccacccagagcgg	11	13	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:37948367C>T	ENST00000373087.6	+	6	1071	c.955C>T	c.(955-957)Cga>Tga	p.R319*		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCAAGTGCCGATTCTTCCA	0.592																																					p.R319X		Atlas-SNP	.											.	ZC3H12A	58	.	0			c.C955T						PASS	.						53	58	56					1																	37948367		2203	4300	6503	SO:0001587	stop_gained	80149	exon6			AAGTGCCGATTCT		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.955C>T	1.37:g.37948367C>T	ENSP00000362179:p.Arg319*	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	36	7	0.194444	NM_025079		Nonsense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207425	0.97376	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	.	.	.	5.35	4.42	0.53409	.	0.056788	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.4531	12.5056	0.55979	0.4622:0.5378:0.0:0.0	.	.	.	.	X	319	.	ENSP00000362174:R319X	R	+	1	2	ZC3H12A	37720954	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.551000	0.67274	1.202000	0.43218	0.563000	0.77884	CGA	.	.	none		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		T	37948367	C	T	37948367	4	4	5	1	0	0	0	0	0	1	0	0	17558	644	23	1	973	1	ZC3H12A	1	37948367	Nonsense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	11293080	37948367	211302254	2	1113										
SLC16A1	6566	hgsc.bcm.edu	37	chr1	113460019	113460019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	acacactccatttgcaacaaCggaagccgcaaagaaatact	6	12	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:113460019C>T	ENST00000538576.1	-	4	1840	c.1009G>A	c.(1009-1011)Gtt>Att	p.V337I	SLC16A1_ENST00000369626.3_Missense_Mutation_p.V337I|SLC16A1_ENST00000433570.4_Missense_Mutation_p.V337I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	337					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TTTGCAACAACGGAAGCCGCA	0.458																																					p.V337I		Atlas-SNP	.											.	SLC16A1	61	.	0			c.G1009A						PASS	.						64	52	56					1																	113460019		2203	4300	6503	SO:0001583	missense	6566	exon4			CAACAACGGAAGC	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1009G>A	1.37:g.113460019C>T	ENSP00000441065:p.Val337Ile	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	113	30	0.265487	NM_001166496	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	0.510	-0.867034	0.02590	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.56	-8.41	0.00961	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.434923	0.25001	N	0.033909	T	0.10380	0.0254	N	0.05199	-0.095	0.09310	N	1	B;B	0.21147	0.052;0.006	B;B	0.24006	0.05;0.03	T	0.15925	-1.0420	10	0.10902	T	0.67	.	20.5631	0.99335	0.0:0.7483:0.0:0.2517	.	337;337	Q49A45;P53985	.;MOT1_HUMAN	I	337	ENSP00000358640:V337I;ENSP00000441065:V337I;ENSP00000416167:V337I;ENSP00000445061:V337I	ENSP00000358640:V337I	V	-	1	0	SLC16A1	113261542	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.393000	0.07305	-1.666000	0.01475	-1.166000	0.01754	GTT	.	.	none		0.458	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		T	113460019	C	T	113460019	3	4	5	1	0	0	0	0	1	0	0	0	14402	536	19	1	501	1	SLC16A1	1	113460019	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	75511652	113460019	135790602	3	1114										
NBPF14	25832	hgsc.bcm.edu	37	chr1	148004784	148004784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ttccacttccatcagcatgcTgttgagcctgcaaaaggaga	9	11	1	2	rs144889269	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:148004784T>C	ENST00000369219.1	-	22	2546	c.2530A>G	c.(2530-2532)Agc>Ggc	p.S844G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	844	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ATCAGCATGCTGTTGAGCCTG	0.448													-|||	904	0.180511	0.4304	0.1398	5008	,	,		14996	0.1002		0.0527	False		,,,				2504	0.0859				p.S844G		Atlas-SNP	.											NBPF14,NS,adenoma,+1,2	NBPF14	107	2	0			c.A2530G						scavenged	.						73	122	108					1																	148004784		1676	4096	5772	SO:0001583	missense	25832	exon22			GCATGCTGTTGAG	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2530A>G	1.37:g.148004784T>C	ENSP00000358221:p.Ser844Gly	Somatic	363	10	0.0275482		WXS	Illumina HiSeq	Phase_I	270	17	0.062963	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		172	0.07875457875457875	90	0.18292682926829268	21	0.058011049723756904	39	0.06818181818181818	22	0.029023746701846966	N	0.149	-1.093496	0.01858	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.06294	3.32	0.445	-0.891	0.10573	DUF1220 (2);	.	.	.	.	T	0.00468	0.0015	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.0;0.006;0.006	T	0.42464	-0.9450	8	0.21014	T	0.42	.	.	.	.	.	192;825;844	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	G	844;192	ENSP00000358221:S844G	ENSP00000358221:S844G	S	-	1	0	NBPF14	146471408	0.011000	0.17503	0.001000	0.08648	0.006000	0.05464	-2.754000	0.00790	-1.348000	0.02205	-1.814000	0.00607	AGC	T|0.944;C|0.056	0.056	strong		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148004784	T	C	148004784	3	2	5	1	0	0	0	0	1	0	0	0	10194	1580	55	3	239	3	NBPF14	1	148004784	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	34544765	148004784	101245837	4	1115										
FLG2	388698	hgsc.bcm.edu	37	chr1	152328051	152328051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccagaggactgacctgagccTgatccatgttggccaaagct	11	12	0	4			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:152328051T>C	ENST00000388718.5	-	3	2283	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	737	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGAGCCTGATCCATGTT	0.502																																					p.S737S		Atlas-SNP	.											FLG2,NS,carcinoma,-1,1	FLG2	431	1	0			c.A2211G						scavenged	.						313	309	310					1																	152328051		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			TGAGCCTGATCCA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2211A>G	1.37:g.152328051T>C		Somatic	131	4	0.0305344		WXS	Illumina HiSeq	Phase_I	104	8	0.0769231	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.	.	none		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152328051	T	C	152328051	2	2	5	1	0	0	0	0	0	0	0	1	5923	1567	55	3		3	FLG2	1	152328051	Silent	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	4323267	152328051	96922570	5	1116										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	51	3	0.0588235		WXS	Illumina HiSeq	Phase_I	50	17	0.34	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	5	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	2514192	154842243	94408378	6	1117	25	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	51	4	0.0784314		WXS	Illumina HiSeq	Phase_I	50	15	0.3	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	5	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	1	154842244	94408377	7	1118	25	2								
HSD17B7	51478	hgsc.bcm.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																					p.S173N		Atlas-SNP	.											HSD17B7,NS,carcinoma,0,5	HSD17B7	25	5	4	Substitution - Missense(4)	kidney(2)|endometrium(2)	c.G518A						scavenged	.						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478	exon5			CTCGCAGTGCAAG	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn	Somatic	444	3	0.00675676		WXS	Illumina HiSeq	Phase_I	371	6	0.0161725	NM_016371	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT	.	.	none		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		A	162769603	G	A	162769603	3	1	5	1	0	0	0	0	1	0	0	0	7388	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	7927359	162769603	86481018	8	1119										
IER5	51278	hgsc.bcm.edu	37	chr1	181058618	181058618	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gtacaccggccgcgacccccCgcgctgcctgctgctgcgcg	13	20	0	0	rs1416829	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:181058618C>G	ENST00000367577.4	+	1	981	c.580C>G	c.(580-582)Cgc>Ggc	p.R194G	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	194			R -> G (in dbSNP:rs1416829). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CGCGACCCCCCGCGCTGCCTG	0.811													C|||	2222	0.44369	0.2489	0.4452	5008	,	,		5637	0.6012		0.3777	False		,,,				2504	0.6115				p.R194G		Atlas-SNP	.											IER5,cerebellum,glioma,0,1	IER5	15	1	0			c.C580G						scavenged	.						1	1	1					1																	181058618		352	834	1186	SO:0001583	missense	51278	exon1			ACCCCCCGCGCTG	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.580C>G	1.37:g.181058618C>G	ENSP00000356549:p.Arg194Gly	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_016545	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	948	0.4340659340659341	135	0.27439024390243905	158	0.43646408839779005	360	0.6293706293706294	295	0.3891820580474934	C	4.540	0.100211	0.08731	.	.	ENSG00000162783	ENST00000367577	T	0.11821	2.74	3.33	-0.106	0.13596	.	1.560750	0.05354	N	0.532505	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.18610	0.029	B	0.15484	0.013	T	0.38972	-0.9636	9	0.34782	T	0.22	.	8.3021	0.32021	0.0:0.4746:0.4312:0.0942	rs1416829;rs3747953	194	Q5VY09	IER5_HUMAN	G	194	ENSP00000356549:R194G	ENSP00000356549:R194G	R	+	1	0	IER5	179325241	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.019000	0.12546	0.004000	0.14682	-1.520000	0.00934	CGC	C|0.566;G|0.434	0.434	strong		0.811	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		G	181058618	C	G	181058618	3	3	5	1	0	0	0	0	1	0	0	0	7508	652	23	4	582	4	IER5	1	181058618	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	18289015	181058618	68192003	9	1120										
BTG2	7832	hgsc.bcm.edu	37	chr1	203276562	203276562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ctacgtgatggcagtctccaGctaggcccttccgcccccgc	10	18	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:203276562G>A	ENST00000290551.4	+	2	544	c.473G>A	c.(472-474)aGc>aAc	p.S158N	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	158					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCAGTCTCCAGCTAGGCCCTT	0.627																																					p.S158N		Atlas-SNP	.											.	BTG2	16	.	0			c.G473A						PASS	.						23	24	24					1																	203276562		2196	4278	6474	SO:0001583	missense	7832	exon2			TCTCCAGCTAGGC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.473G>A	1.37:g.203276562G>A	ENSP00000290551:p.Ser158Asn	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902148	0.52227	.	.	ENSG00000159388	ENST00000290551	T	0.26373	1.74	4.76	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.73217	2.22	0.43338	D	0.995382	D	0.76494	0.999	D	0.66084	0.941	T	0.49021	-0.8982	10	0.87932	D	0	-21.5168	11.8943	0.52648	0.087:0.0:0.913:0.0	.	158	P78543	BTG2_HUMAN	N	158	ENSP00000290551:S158N	ENSP00000290551:S158N	S	+	2	0	BTG2	201543185	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	9.420000	0.97426	1.140000	0.42260	0.313000	0.20887	AGC	.	.	none		0.627	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		A	203276562	G	A	203276562	3	1	5	1	0	0	0	0	1	0	0	0	1554	971	34	2	479	2	BTG2	1	203276562	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	22217944	203276562	45974059	10	1121										
LAX1	54900	hgsc.bcm.edu	37	chr1	203743519	203743519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	atgttccagcagcagatcccAgtggaagccagcagcaggct	12	12	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:203743519A>T	ENST00000442561.2	+	5	1297	c.907A>T	c.(907-909)Agt>Tgt	p.S303C	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.S287C	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	303					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGATCCCAGTGGAAGCCA	0.517																																					p.S303C		Atlas-SNP	.											LAX1,NS,carcinoma,0,2	LAX1	48	2	0			c.A907T						scavenged	.						77	74	75					1																	203743519		2203	4300	6503	SO:0001583	missense	54900	exon5			GATCCCAGTGGAA	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.907A>T	1.37:g.203743519A>T	ENSP00000406970:p.Ser303Cys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_017773	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703553	0.68501	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.79	2.34	0.29019	.	0.866628	0.10281	N	0.693580	T	0.33760	0.0874	L	0.36672	1.1	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.50192	0.634;0.634	T	0.17319	-1.0373	9	0.72032	D	0.01	-1.1395	3.9964	0.09559	0.6696:0.2116:0.1188:0.0	.	287;303	B7Z744;Q8IWV1	.;LAX1_HUMAN	C	303;287	.	ENSP00000356186:S287C	S	+	1	0	LAX1	202010142	0.000000	0.05858	0.001000	0.08648	0.666000	0.39218	0.246000	0.18160	0.369000	0.24510	0.533000	0.62120	AGT	.	.	none		0.517	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		T	203743519	A	T	203743519	3	4	5	1	0	0	0	0	1	0	0	0	8648	188	7	5	970	5	LAX1	1	203743519	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	466957	203743519	45507102	11	1122										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371097	240371097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cctcccccacttcccggagcGggcataccccctccgccccc	7	25	0	0	rs71646827	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:240371097G>A	ENST00000319653.9	+	5	3215	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	995	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCCCGGAGCGGGCATACCCC	0.706																																					p.A995A		Atlas-SNP	.											FMN2,NS,carcinoma,0,1	FMN2	451	1	0			c.G2985A						scavenged	.						6	9	8					1																	240371097		2109	4153	6262	SO:0001819	synonymous_variant	56776	exon5			CGGAGCGGGCATA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2985G>A	1.37:g.240371097G>A		Somatic	95	4	0.0421053		WXS	Illumina HiSeq	Phase_I	66	9	0.136364	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			G|0.939;A|0.061	0.061	strong		0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371097	G	A	240371097	2	1	5	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240371097	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	36627578	240371097	8879524	12	1123										
OR2T35	403244	hgsc.bcm.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	17	4	0	4	rs1770044	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																					p.V216V		Atlas-SNP	.											OR2T35,NS,carcinoma,0,2	OR2T35	19	2	1	Substitution - coding silent(1)	endometrium(1)	c.G648C						scavenged	.						132	107	115					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244	exon1			GTAGGACACAGAG	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_001001827	Q6IEY7	Silent	SNP	ENST00000317450.3	37	CCDS31123.1																																																																																			C|0.500;G|0.500	0.500	strong		0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		G	248801912	C	G	248801912	2	3	5	1	0	0	0	0	0	0	0	1	11026	465	17	4		4	OR2T35	1	248801912	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	8430815	248801912	448709	13	1124										
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		Atlas-SNP	.											TPO,cerebellum,glioma,0,1	TPO	224	1	0			c.G1193C						PASS	.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699	0.699	strong		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	5	1	0	0	0	0	1	0	0	0	16407	971	34	4	1219	4	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		1481231	241718142	14	1125										
SPAG16	79582	hgsc.bcm.edu	37	chr2	214239770	214239770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	aaaagaaaatgcaccagaagGtcctactcagaaaggtcttc	8	9	2	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr2:214239770G>T	ENST00000331683.5	+	9	964	c.869G>T	c.(868-870)gGt>gTt	p.G290V	SPAG16_ENST00000374309.3_Missense_Mutation_p.G196V|SPAG16_ENST00000272898.7_Missense_Mutation_p.G290V|SPAG16_ENST00000447990.1_Missense_Mutation_p.G290V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	290					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCACCAGAAGGTCCTACTCAG	0.318																																					p.G290V		Atlas-SNP	.											SPAG16_ENST00000272898,NS,carcinoma,+1,2	SPAG16	134	2	0			c.G869T						scavenged	.						86	81	83					2																	214239770		2203	4300	6503	SO:0001583	missense	79582	exon9			CAGAAGGTCCTAC	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.869G>T	2.37:g.214239770G>T	ENSP00000332592:p.Gly290Val	Somatic	410	1	0.00243902		WXS	Illumina HiSeq	Phase_I	382	15	0.039267	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.119874	0.37436	.	.	ENSG00000144451	ENST00000331683;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.58358	0.4;0.34	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);	0.324591	0.29321	N	0.012483	T	0.66896	0.2836	L	0.61218	1.895	0.53005	D	0.99996	D;D;P;D	0.76494	0.999;0.996;0.777;0.996	P;D;B;P	0.64237	0.896;0.923;0.199;0.896	T	0.69435	-0.5146	10	0.72032	D	0.01	.	13.6791	0.62472	0.0:0.0:1.0:0.0	.	196;141;230;290	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	V	290;290;290;196	ENSP00000332592:G290V;ENSP00000363428:G196V	ENSP00000272898:G290V	G	+	2	0	SPAG16	213948015	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	2.109000	0.41863	2.580000	0.87095	0.561000	0.74099	GGT	.	.	none		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		T	214239770	G	T	214239770	3	4	5	1	0	0	0	0	1	0	0	0	14978	1261	44	4	919	4	SPAG16	2	214239770	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	212758539	214239770	28959603	15	1126										
ARIH2	10425	hgsc.bcm.edu	37	chr3	49017001	49017001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	acaaggagaatcctgacatcGtgaaccagagccaacaagcc	9	12	0	4			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:49017001G>A	ENST00000356401.4	+	12	1387	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	ARIH2_ENST00000449376.1_Missense_Mutation_p.V350M|RP13-131K19.1_ENST00000429681.1_RNA|ARIH2_ENST00000490095.1_3'UTR|RP13-131K19.1_ENST00000415982.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	350					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCTGACATCGTGAACCAGAG	0.498																																					p.V350M		Atlas-SNP	.											ARIH2,NS,carcinoma,0,1	ARIH2	32	1	0			c.G1048A						scavenged	.						142	120	128					3																	49017001		2203	4300	6503	SO:0001583	missense	10425	exon12			GACATCGTGAACC	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.1048G>A	3.37:g.49017001G>A	ENSP00000348769:p.Val350Met	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	84	14	0.166667	NM_006321	Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213019	0.79352	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	D;D	0.82711	-1.64;-1.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	N	0.24115	0.695	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.792	P;D;B	0.70935	0.813;0.971;0.154	D	0.86779	0.1978	10	0.52906	T	0.07	.	19.9097	0.97022	0.0:0.0:1.0:0.0	.	357;350;350	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	M	350;350;349;174	ENSP00000348769:V350M;ENSP00000403222:V350M	ENSP00000348769:V350M	V	+	1	0	ARIH2	48992005	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.418000	0.80167	2.710000	0.92621	0.472000	0.43445	GTG	.	.	none		0.498	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		A	49017001	G	A	49017001	3	1	5	1	0	0	0	0	1	0	0	0	924	1145	40	1	1086	1	ARIH2	3	49017001	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		49017001	149005429	16	1127										
USP4	7375	hgsc.bcm.edu	37	chr3	49362425	49362425	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gttccagagccgtgtttcacGctccgcagggatgttgaata	12	10	1	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:49362425G>C	ENST00000265560.4	-	5	581	c.535C>G	c.(535-537)Cgt>Ggt	p.R179G	USP4_ENST00000351842.4_Missense_Mutation_p.R179G|USP4_ENST00000416417.1_Missense_Mutation_p.R179G|USP4_ENST00000415188.1_Missense_Mutation_p.R179G	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	179	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGTGTTTCACGCTCCGCAGGG	0.502																																					p.R179G		Atlas-SNP	.											USP4,mouth,carcinoma,+1,1	USP4	72	1	0			c.C535G						PASS	.						182	180	181					3																	49362425		2203	4300	6503	SO:0001583	missense	7375	exon5			TTTCACGCTCCGC	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.535C>G	3.37:g.49362425G>C	ENSP00000265560:p.Arg179Gly	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	102	10	0.0980392	NM_199443	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997823	0.54147	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.32023	1.98;2.1;1.47	5.51	2.33	0.28932	.	0.100082	0.64402	N	0.000006	T	0.26268	0.0641	L	0.41824	1.3	0.32078	N	0.593569	P;B	0.39624	0.681;0.372	B;B	0.38755	0.281;0.095	T	0.38457	-0.9660	10	0.72032	D	0.01	-9.6545	12.7177	0.57123	0.0:0.0:0.3137:0.6863	.	179;179	Q13107-2;Q13107	.;UBP4_HUMAN	G	179	ENSP00000341028:R179G;ENSP00000265560:R179G;ENSP00000400623:R179G	ENSP00000265560:R179G	R	-	1	0	USP4	49337429	1.000000	0.71417	0.005000	0.12908	0.963000	0.63663	4.711000	0.61881	0.644000	0.30656	0.491000	0.48974	CGT	.	.	none		0.502	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		C	49362425	G	C	49362425	3	2	5	1	0	0	0	0	1	0	0	0	17068	1087	38	4	2428	4	USP4	3	49362425	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	345424	49362425	148660005	17	1128										
RASSF1	51364	hgsc.bcm.edu	37	chr3	50378176	50378176	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ctccagccgggtgcggccctTcccagcgcgcccagcgggtg	15	18	0	0	rs4688725	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:50378176T>G	ENST00000231749.3	-	0	2896				ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000359365.4_Missense_Mutation_p.K21Q|RASSF1_ENST00000395126.3_5'Flank|RASSF1_ENST00000488024.1_5'UTR|RASSF1_ENST00000357043.2_Missense_Mutation_p.K21Q	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10						inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTGCGGCCCTTCCCAGCGCGC	0.736										TSP Lung(30;0.18)			G|||	1175	0.234625	0.2436	0.2954	5008	,	,		13606	0.62		0.0119	False		,,,				2504	0.0112				p.K21Q		Atlas-SNP	.											.	RASSF1	46	.	0			c.A61C						PASS	.	G	,GLN/LYS,GLN/LYS	402,2740		7,388,1176	2	3	3		,61,61	4.5	0	3	dbSNP_111	3	24,6908		0,24,3442	no	utr-5,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170714.1	,53,53	7,412,4618	GG,GT,TT		0.3462,12.7944,4.2287	,benign,benign	,21/341,21/345	50378176	426,9648	1571	3466	5037	SO:0001628	intergenic_variant	11186	exon1			GGCCCTTCCCAGC	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874		3.37:g.50378176T>G		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	10	7	0.7	NM_007182	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	588	0.2692307692307692	154	0.3130081300813008	87	0.24033149171270718	338	0.5909090909090909	9	0.011873350923482849	G	1.302	-0.604589	0.03717	0.127944	0.003462	ENSG00000068028	ENST00000357043;ENST00000359365	T;T	0.76448	-1.02;-1.01	5.35	4.48	0.54585	.	1.004080	0.08017	N	0.991328	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.12766	T	0.61	-7.5566	7.9536	0.30029	0.0764:0.0:0.6392:0.2844	rs4688725	21;21;21	B4DVA1;Q9NS23-2;Q9NS23	.;.;RASF1_HUMAN	Q	21	ENSP00000349547:K21Q;ENSP00000352323:K21Q	ENSP00000349547:K21Q	K	-	1	0	RASSF1	50353180	0.003000	0.15002	0.029000	0.17559	0.010000	0.07245	0.412000	0.21131	0.652000	0.30806	-0.121000	0.15023	AAG	T|0.731;G|0.269	0.269	strong		0.736	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		G	50378176	T	G	50378176	1	3	5	0	1	0	0	0	0	0	0	0	13084	1792	62	5		5	RASSF1	3	50378176	IGR	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	1015751	50378176	147644254	18	1129										
CCDC66	285331	hgsc.bcm.edu	37	chr3	56650051	56650052	+	In_Frame_Ins	INS	-	-	CTT													0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tacatatatgaattctacgaINScttctaagaaggatactggt					rs67797937|rs77152637|rs74463118	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:56650051_56650052insCTT	ENST00000394672.3	+	13	1883_1884	c.1813_1814insCTT	c.(1813-1815)act>aCTTct	p.606_607insS	CCDC66_ENST00000326595.7_In_Frame_Ins_p.572_573insS|CCDC66_ENST00000436465.2_In_Frame_Ins_p.606_607insS	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	606					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATTCTACGACTTCTAAGAAG	0.287																																					p.T605delinsTS		Pindel	.											.	CCDC66	145	.	0			c.1813_1814insCTT						PASS	.		,	3586,680		1520,546,67					,	1.9	0		dbSNP_130	92	3788,4448		872,2044,1202	no	coding,coding	CCDC66	NM_001141947.1,NM_001012506.4	,	2392,2590,1269	A1A1,A1R,RR		45.9932,15.94,41.0174	,	,		7374,5128				SO:0001652	inframe_insertion	285331	exon13			.	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1814_1816dupCTT	3.37:g.56650052_56650054dupCTT	ENSP00000378167:p.Ser606_Ser606dup	Somatic	114	.	.		WXS	Illumina HiSeq	Phase_I	136	45	0.331	NM_001141947	B3KWL8|Q4VC34|Q8N949	In_Frame_Ins	INS	ENST00000394672.3	37	CCDS46852.1																																																																																			-|0.298;CTT|0.702	0.702	strong		0.287	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		CTT	56650052	-	CTT	56650051	7	5	5	1	0	1	1	0	0	0	0	0	2838	275	10	0	1863	0	CCDC66	3	56650051	In_Frame_Ins	INS	-	TCGA-FA-A6HO-01A-11D-A31X-10	6271875	56650051	141372379	19	1130										
ROBO2	6092	hgsc.bcm.edu	37	chr3	77147265	77147265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	acgactctgaactgcaaggcGgagggccggccaacgcccac	13	15	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617																																					p.A54A		Atlas-SNP	.											.	ROBO2	527	.	0			c.G162A						PASS	.						53	59	57					3																	77147265		1980	4165	6145	SO:0001819	synonymous_variant	6092	exon2			CAAGGCGGAGGGC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.162G>A	3.37:g.77147265G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	139	8	0.057554	NM_002942	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																			.	.	none		0.617	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77147265	G	A	77147265	2	1	5	1	0	0	0	0	0	0	0	1	13514	1117	39	1		1	ROBO2	3	77147265	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	20497214	77147265	120875165	20	1131										
IFT122	55764	hgsc.bcm.edu	37	chr3	129207102	129207102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cttgatgaaatcctgcagtcCgctcccatgtaccagtacct	7	14	0	2	rs146874343	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:129207102C>T	ENST00000348417.2	+	16	1931	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	IFT122_ENST00000349441.2_Silent_p.S507S|IFT122_ENST00000440957.2_Silent_p.S409S|IFT122_ENST00000504021.1_Silent_p.S512S|IFT122_ENST00000347300.2_Silent_p.S559S|IFT122_ENST00000296266.3_Silent_p.S669S|IFT122_ENST00000431818.2_Silent_p.S468S|IFT122_ENST00000507564.1_Silent_p.S610S	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	618					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTGCAGTCCGCTCCCATGT	0.493													C|||	46	0.0091853	0.031	0.0029	5008	,	,		20875	0.002		0.001	False		,,,				2504	0.0				p.S669S		Atlas-SNP	.											IFT122,NS,carcinoma,+1,1	IFT122	117	1	0			c.C2007T						scavenged	.	C	,,,	133,4273	95.3+/-134.0	4,125,2074	91	86	88		1677,2007,1854,1521	-2.7	1	3	dbSNP_134	88	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	,,,	4,129,6370	TT,TC,CC		0.0465,3.0186,1.0534	,,,	559/1183,669/1293,618/1242,507/1132	129207102	137,12869	2203	4300	6503	SO:0001819	synonymous_variant	55764	exon17			GCAGTCCGCTCCC	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1854C>T	3.37:g.129207102C>T		Somatic	282	3	0.0106383		WXS	Illumina HiSeq	Phase_I	316	12	0.0379747	NM_052985	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	CCDS3061.1																																																																																			C|0.987;T|0.013	0.013	strong		0.493	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		T	129207102	C	T	129207102	2	4	5	1	0	0	0	0	0	0	0	1	7555	639	23	1		1	IFT122	3	129207102	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	52059837	129207102	68815328	21	1132										
TMEM108	66000	hgsc.bcm.edu	37	chr3	133099739	133099739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tccctccagggtctcagaaaGcactatttctggagccaagg	10	12	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:133099739G>A	ENST00000321871.6	+	4	1394	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	TMEM108_ENST00000393130.3_Missense_Mutation_p.S395N|TMEM108_ENST00000515826.1_Missense_Mutation_p.S395N|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	395						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTCTCAGAAAGCACTATTTCT	0.592																																					p.S395N		Atlas-SNP	.											.	TMEM108	67	.	0			c.G1184A						PASS	.						51	51	51					3																	133099739		2203	4300	6503	SO:0001583	missense	66000	exon4			CAGAAAGCACTAT	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1184G>A	3.37:g.133099739G>A	ENSP00000324651:p.Ser395Asn	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	58	11	0.189655	NM_023943	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419812	0.42918	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.51325	0.77;0.77;0.71	3.66	2.78	0.32641	.	0.563192	0.16981	N	0.191688	T	0.58935	0.2157	L	0.57536	1.79	0.25499	N	0.987578	D;B	0.67145	0.996;0.023	D;B	0.78314	0.991;0.01	T	0.43653	-0.9378	10	0.45353	T	0.12	-9.2727	6.9696	0.24642	0.2917:0.0:0.7083:0.0	.	395;395	E9PB58;Q6UXF1	.;TM108_HUMAN	N	395	ENSP00000324651:S395N;ENSP00000376838:S395N;ENSP00000423338:S395N	ENSP00000324651:S395N	S	+	2	0	TMEM108	134582429	0.989000	0.36119	0.992000	0.48379	0.937000	0.57800	0.931000	0.28871	0.881000	0.35993	0.561000	0.74099	AGC	.	.	none		0.592	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099739	G	A	133099739	3	1	5	1	0	0	0	0	1	0	0	0	16021	971	34	2	1190	2	TMEM108	3	133099739	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	3892637	133099739	64922691	22	1133										
PEX5L	51555	hgsc.bcm.edu	37	chr3	179525541	179525541	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tggctgaatctccagtgctcGcgtataggcctccacggctt	11	13	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr3:179525541G>A	ENST00000467460.1	-	14	1927	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	PEX5L_ENST00000263962.8_Nonsense_Mutation_p.R531*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.R341*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.R474*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.R425*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.R490*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.R498*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.R425*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.R509*|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	533					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCAGTGCTCGCGTATAGGCC	0.547																																					p.R533X		Atlas-SNP	.											.	PEX5L	104	.	0			c.C1597T						PASS	.						156	158	157					3																	179525541		2203	4300	6503	SO:0001587	stop_gained	51555	exon14			GTGCTCGCGTATA	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1597C>T	3.37:g.179525541G>A	ENSP00000419975:p.Arg533*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	80	5	0.0625	NM_016559	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Nonsense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310115	0.60414	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	6.07	0.263	0.15602	.	0.062097	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1829	18.2127	0.89876	0.0:0.0:0.3064:0.6936	.	.	.	.	X	533;531;498;531;425;341;490;421;474;425;509	.	ENSP00000263962:R531X	R	-	1	2	PEX5L	181008235	0.806000	0.28996	0.047000	0.18901	0.321000	0.28281	1.324000	0.33712	0.023000	0.15187	-0.291000	0.09656	CGA	.	.	none		0.547	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		A	179525541	G	A	179525541	4	1	5	1	0	0	0	0	0	1	0	0	11749	1095	38	1	291	1	PEX5L	3	179525541	Nonsense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	46425802	179525541	18496889	23	1134										
HTT	3064	hgsc.bcm.edu	37	chr4	3184180	3184180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tagctgacatcatcctcccaAtgttagccaaacagcaggtt	7	12	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr4:3184180A>G	ENST00000355072.5	+	37	4994	c.4849A>G	c.(4849-4851)Atg>Gtg	p.M1617V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1617					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATCCTCCCAATGTTAGCCAA	0.502																																					p.M1617V		Atlas-SNP	.											.	HTT	221	.	0			c.A4849G						PASS	.						135	137	137					4																	3184180		2052	4201	6253	SO:0001583	missense	3064	exon37			CTCCCAATGTTAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4849A>G	4.37:g.3184180A>G	ENSP00000347184:p.Met1617Val	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	51	16	0.313726	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136143	0.37728	.	.	ENSG00000197386	ENST00000355072	T	0.05139	3.49	4.98	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.60455	1.87	0.48185	D	0.9996	P	0.35328	0.495	B	0.23852	0.049	T	0.27773	-1.0064	10	0.42905	T	0.14	.	9.3075	0.37885	0.9186:0.0:0.0814:0.0	.	1617	P42858	HD_HUMAN	V	1617	ENSP00000347184:M1617V	ENSP00000347184:M1617V	M	+	1	0	HTT	3153978	1.000000	0.71417	0.796000	0.32109	0.774000	0.43823	6.119000	0.71590	0.931000	0.37242	-0.379000	0.06801	ATG	.	.	none		0.502	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3184180	A	G	3184180	3	3	5	1	0	0	0	0	1	0	0	0	7457	101	4	2	4995	2	HTT	4	3184180	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10		3184180	187970096	24	1135										
DRD5	1816	hgsc.bcm.edu	37	chr4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	atctcctacaaccaagacatCgtcttccacaaggaaatcgc	5	14	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCAAGACATCGTCTTCCACA	0.592																																					p.I400M		Atlas-SNP	.											DRD5,NS,carcinoma,0,2	DRD5	119	2	2	Substitution - Missense(2)	endometrium(1)|kidney(1)	c.C1200G						scavenged	.						97	78	84					4																	9784853		2203	4300	6503	SO:0001583	missense	1816	exon1			AGACATCGTCTTC	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1200C>G	4.37:g.9784853C>G	ENSP00000306129:p.Ile400Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.397995	0.04865	.	.	ENSG00000169676	ENST00000304374	T	0.65364	-0.15	4.73	-9.46	0.00597	.	0.191884	0.44688	D	0.000429	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.04650	-1.0936	10	0.33141	T	0.24	.	5.418	0.16384	0.1584:0.2933:0.4256:0.1227	.	400	P21918	DRD5_HUMAN	M	400	ENSP00000306129:I400M	ENSP00000306129:I400M	I	+	3	3	DRD5	9393951	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.589000	0.00900	-1.894000	0.01105	-1.614000	0.00798	ATC	.	.	none		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			G	9784853	C	G	9784853	3	3	5	1	0	0	0	0	1	0	0	0	4760	874	31	4	1202	4	DRD5	4	9784853	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	6600673	9784853	181369423	25	1136			1	8		2	2	30	N	C_A	8.524439e-05
DRD5	1816	hgsc.bcm.edu	37	chr4	9784882	9784882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	caaggaaatcgcagctgcctAcatccacatgatgcccaacg	8	14	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr4:9784882A>G	ENST00000304374.2	+	1	1625	c.1229A>G	c.(1228-1230)tAc>tGc	p.Y410C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.Y410C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAGCTGCCTACATCCACATG	0.567																																					p.Y410C		Atlas-SNP	.											DRD5,NS,carcinoma,0,1	DRD5	119	1	1	Substitution - Missense(1)	endometrium(1)	c.A1229G						scavenged	.						95	78	84					4																	9784882		2203	4300	6503	SO:0001583	missense	1816	exon1			CTGCCTACATCCA	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1229A>G	4.37:g.9784882A>G	ENSP00000306129:p.Tyr410Cys	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	4.012	-0.000485	0.07819	.	.	ENSG00000169676	ENST00000304374	T	0.65732	-0.17	4.84	-0.829	0.10796	.	0.427940	0.23452	N	0.048029	T	0.52484	0.1737	M	0.63843	1.955	0.40005	D	0.975218	B	0.13145	0.007	B	0.12156	0.007	T	0.39354	-0.9618	10	0.42905	T	0.14	.	7.8717	0.29569	0.5289:0.3988:0.0724:0.0	.	410	P21918	DRD5_HUMAN	C	410	ENSP00000306129:Y410C	ENSP00000306129:Y410C	Y	+	2	0	DRD5	9393980	1.000000	0.71417	0.005000	0.12908	0.158000	0.22134	3.963000	0.56773	-0.248000	0.09583	0.377000	0.23210	TAC	.	.	none		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			G	9784882	A	G	9784882	3	3	5	1	0	0	0	0	1	0	0	0	4760	391	14	2	1231	2	DRD5	4	9784882	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	29	9784882	181369394	26	1137			1	8		2	2	30	N	C_A	8.524439e-05
ANKRD17	26057	hgsc.bcm.edu	37	chr4	74005553	74005553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gatccacttgctgtaaccgtGcatagtctccctcagaaagc	8	13	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr4:74005553G>T	ENST00000358602.4	-	15	2896	c.2780C>A	c.(2779-2781)gCa>gAa	p.A927E	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A814E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	927	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTAACCGTGCATAGTCTCC	0.493																																					p.A927E		Atlas-SNP	.											ANKRD17,NS,carcinoma,0,1	ANKRD17	214	1	0			c.C2780A						scavenged	.						121	114	116					4																	74005553		2203	4300	6503	SO:0001583	missense	26057	exon15			AACCGTGCATAGT	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2780C>A	4.37:g.74005553G>T	ENSP00000351416:p.Ala927Glu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	77	3	0.038961	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823696	0.71143	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.66099	-0.18;-0.19	5.65	5.65	0.86999	Ankyrin repeat-containing domain (1);	0.087223	0.48767	D	0.000165	T	0.57272	0.2042	L	0.40543	1.245	0.80722	D	1	P;P;P;B	0.39665	0.682;0.634;0.501;0.309	B;B;B;B	0.36845	0.114;0.234;0.118;0.055	T	0.60444	-0.7262	10	0.54805	T	0.06	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	448;927;927;814	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	E	927;927;814;927	ENSP00000351416:A927E;ENSP00000427151:A814E	ENSP00000351416:A927E	A	-	2	0	ANKRD17	74224417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.713000	0.91408	2.824000	0.97209	0.655000	0.94253	GCA	.	.	none		0.493	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74005553	G	T	74005553	3	4	5	1	0	0	0	0	1	0	0	0	646	1319	46	4	5111	4	ANKRD17	4	74005553	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	64220671	74005553	117148723	27	1138										
SMARCAD1	56916	hgsc.bcm.edu	37	chr4	95199798	95199798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gttaccccccaagaaagatcGaattgagttgtgtgcaatgt	10	8	0	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr4:95199798G>T	ENST00000354268.4	+	18	2283	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R737L|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R307L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	737					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)	p.R737Q(1)		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)		AAGAAAGATCGAATTGAGTTG	0.338																																					p.R737L		Atlas-SNP	.											SMARCAD1,NS,malignant_melanoma,+1,3	SMARCAD1	97	3	1	Substitution - Missense(1)	large_intestine(1)	c.G2210T						scavenged	.						90	97	95					4																	95199798		2198	4300	6498	SO:0001583	missense	56916	exon18			AAGATCGAATTGA	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.2210G>T	4.37:g.95199798G>T	ENSP00000346217:p.Arg737Leu	Somatic	323	1	0.00309598		WXS	Illumina HiSeq	Phase_I	288	3	0.0104167	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.047315	0.01981	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.55	-9.99	0.00435	SNF2-related (1);	1.372300	0.05135	N	0.493304	D	0.83022	0.5164	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.69789	-0.5050	10	0.12430	T	0.62	1.7678	14.3145	0.66440	0.2865:0.0:0.6031:0.1104	.	737;737	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	L	737;737;737;307	ENSP00000351947:R737L;ENSP00000415576:R737L;ENSP00000346217:R737L;ENSP00000423286:R307L	ENSP00000346217:R737L	R	+	2	0	SMARCAD1	95418821	0.000000	0.05858	0.005000	0.12908	0.129000	0.20672	0.145000	0.16157	-1.752000	0.01325	-1.223000	0.01593	CGA	.	.	none		0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		T	95199798	G	T	95199798	3	4	5	1	0	0	0	0	1	0	0	0	14772	1058	37	4	2276	4	SMARCAD1	4	95199798	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	21194245	95199798	95954478	28	1139										
TPPP	11076	hgsc.bcm.edu	37	chr5	678087	678087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cctccgattccagcgacagcCtcttggctgcccggtccttc	9	18	1	0	rs570878136	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr5:678087C>T	ENST00000360578.5	-	2	210	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	30	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R30K(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGCGACAGCCTCTTGGCTGC	0.677													C|||	15	0.00299521	0.0061	0.0	5008	,	,		16462	0.0069		0.0	False		,,,				2504	0.0				p.R30K		Atlas-SNP	.											TPPP,NS,carcinoma,0,1	TPPP	24	1	1	Substitution - Missense(1)	prostate(1)	c.G89A						scavenged	.						14	17	16					5																	678087		2199	4295	6494	SO:0001583	missense	11076	exon2			GACAGCCTCTTGG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.89G>A	5.37:g.678087C>T	ENSP00000353785:p.Arg30Lys	Somatic	281	7	0.024911		WXS	Illumina HiSeq	Phase_I	186	5	0.0268817	NM_007030		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605282	0.46423	.	.	ENSG00000171368	ENST00000360578	T	0.45276	0.9	5.23	5.23	0.72850	.	0.149935	0.44902	D	0.000407	T	0.29588	0.0738	L	0.29908	0.895	0.44635	D	0.997618	B	0.15141	0.012	B	0.13407	0.009	T	0.11867	-1.0570	10	0.05436	T	0.98	-54.1656	16.5545	0.84482	0.0:1.0:0.0:0.0	.	30	O94811	TPPP_HUMAN	K	30	ENSP00000353785:R30K	ENSP00000353785:R30K	R	-	2	0	TPPP	731087	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	4.081000	0.57627	2.437000	0.82529	0.491000	0.48974	AGG	.	.	none		0.677	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678087	C	T	678087	3	4	5	1	0	0	0	0	1	0	0	0	16410	681	24	2	582	2	TPPP	5	678087	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		678087	180237173	29	1140										
CHSY3	337876	hgsc.bcm.edu	37	chr5	129240972	129240972	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cagcggagagacggccggccGgggagtagccacaacggcag	18	12	0	1	rs33917	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr5:129240972G>C	ENST00000305031.4	+	1	808	c.450G>C	c.(448-450)ccG>ccC	p.P150P	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACGGCCGGCCGGGGAGTAGCC	0.766													G|||	2286	0.45647	0.2254	0.513	5008	,	,		7622	0.5833		0.5368	False		,,,				2504	0.5153				p.P150P		Atlas-SNP	.											.	CHSY3	92	.	0			c.G450C						PASS	.						1	2	2					5																	129240972		822	2140	2962	SO:0001819	synonymous_variant	337876	exon1			CCGGCCGGGGAGT	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.450G>C	5.37:g.129240972G>C		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	9	4	0.444444	NM_175856	B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	CCDS34223.1																																																																																			G|0.522;C|0.478	0.478	strong		0.766	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		C	129240972	G	C	129240972	2	2	5	1	0	0	0	0	0	0	0	1	3413	1103	39	4		4	CHSY3	5	129240972	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	128562885	129240972	51674288	30	1141										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140554142	140554142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccgcgccctgcaccgagccgTtgccccgggcggccgagccg	15	20	0	0	rs13174866		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr5:140554142T>G	ENST00000231137.3	+	1	1900	c.1726T>G	c.(1726-1728)Ttg>Gtg	p.L576V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	576	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> V (in dbSNP:rs13174866).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L576V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGAGCCGTTGCCCCGGGC	0.706																																					p.L576V		Atlas-SNP	.											PCDHB7,NS,carcinoma,0,1	PCDHB7	231	1	1	Substitution - Missense(1)	prostate(1)	c.T1726G						scavenged	.						31	41	37					5																	140554142		2147	4229	6376	SO:0001583	missense	56129	exon1			GAGCCGTTGCCCC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1726T>G	5.37:g.140554142T>G	ENSP00000231137:p.Leu576Val	Somatic	41	1	0.0243902		WXS	Illumina HiSeq	Phase_I	55	6	0.109091	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.992149	0.00439	.	.	ENSG00000113212	ENST00000231137	T	0.62498	0.02	4.3	-0.0538	0.13816	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28632	0.0709	N	0.01789	-0.72	0.26682	N	0.971522	B	0.06786	0.001	B	0.12156	0.007	T	0.27400	-1.0075	9	0.02654	T	1	.	10.3392	0.43868	0.0:0.4572:0.3179:0.2249	rs13174866;rs17844470	576	Q9Y5E2	PCDB7_HUMAN	V	576	ENSP00000231137:L576V	ENSP00000231137:L576V	L	+	1	2	PCDHB7	140534326	0.880000	0.30214	0.995000	0.50966	0.341000	0.28922	0.694000	0.25512	-0.325000	0.08577	-1.785000	0.00643	TTG	T|1.000;|0.000	.	weak		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		G	140554142	T	G	140554142	3	3	5	1	0	0	0	0	1	0	0	0	11547	1722	60	5	1728	5	PCDHB7	5	140554142	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	11313170	140554142	40361118	31	1142										
PCYOX1L	78991	hgsc.bcm.edu	37	chr5	148742308	148742308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gaagggaaccgtgggtggccGcttggccaccatctcagtca	14	12	2	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr5:148742308G>T	ENST00000274569.4	+	2	259	c.197G>T	c.(196-198)cGc>cTc	p.R66L	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGTGGCCGCTTGGCCACC	0.612																																					p.R66L	Ovarian(62;1136 1477 27277 27495)	Atlas-SNP	.											.	PCYOX1L	32	.	0			c.G197T						PASS	.						102	107	105					5																	148742308		2203	4300	6503	SO:0001583	missense	78991	exon2			GTGGCCGCTTGGC		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.197G>T	5.37:g.148742308G>T	ENSP00000274569:p.Arg66Leu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	44	14	0.318182	NM_024028	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532690	0.85812	.	.	ENSG00000145882	ENST00000274569	T	0.14391	2.51	5.23	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26121	-1.0112	10	0.87932	D	0	-20.8276	16.1457	0.81563	0.0:0.1339:0.8661:0.0	.	66	Q8NBM8	PCYXL_HUMAN	L	66	ENSP00000274569:R66L	ENSP00000274569:R66L	R	+	2	0	PCYOX1L	148722501	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.840000	0.86819	1.321000	0.45227	0.561000	0.74099	CGC	.	.	none		0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		T	148742308	G	T	148742308	3	4	5	1	0	0	0	0	1	0	0	0	11609	1087	38	4	203	4	PCYOX1L	5	148742308	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	8188166	148742308	32172952	32	1143										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954354	30954354	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccctccagtggggccagcacAgccaccaactctgactccag	9	18	1	1	rs9262322		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr6:30954354A>T	ENST00000376296.3	+	2	643	c.402A>T	c.(400-402)acA>acT	p.T134T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	134	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGCCAGCACAGCCACCAACT	0.607																																					p.T134T		Atlas-SNP	.											MUC21,NS,carcinoma,+1,1	MUC21	98	1	0			c.A402T						scavenged	.						166	155	159					6																	30954354		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CAGCACAGCCACC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.402A>T	6.37:g.30954354A>T		Somatic	134	5	0.0373134		WXS	Illumina HiSeq	Phase_I	136	10	0.0735294	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																			.	.	none		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954354	A	T	30954354	2	4	5	1	0	0	0	0	0	0	0	1	9977	175	7	5		5	MUC21	6	30954354	Silent	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10		30954354	140160713	33	1144										
MUC21	394263	hgsc.bcm.edu	37	chr6	30955019	30955019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gtccagcacaacctccagtgGggccagcacagccaccaact	9	17	0	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr6:30955019G>A	ENST00000376296.3	+	2	1308	c.1067G>A	c.(1066-1068)gGg>gAg	p.G356E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	356	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.637																																					p.G356E		Atlas-SNP	.											MUC21,NS,carcinoma,0,3	MUC21	98	3	0			c.G1067A						scavenged	.						136	135	136					6																	30955019		2203	4300	6503	SO:0001583	missense	394263	exon2			CCAGTGGGGCCAG	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1067G>A	6.37:g.30955019G>A	ENSP00000365473:p.Gly356Glu	Somatic	95	2	0.0210526		WXS	Illumina HiSeq	Phase_I	106	14	0.132075	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	7.208	0.594777	0.13875	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03035	4.07	3.8	-1.27	0.09347	.	.	.	.	.	T	0.00724	0.0024	L	0.29908	0.895	0.09310	N	1	P	0.41393	0.748	B	0.36959	0.237	T	0.44159	-0.9346	9	0.15952	T	0.53	0.3604	4.2322	0.10608	0.4907:0.0:0.345:0.1644	.	356	Q5SSG8	MUC21_HUMAN	E	206;356	ENSP00000365473:G356E	ENSP00000365473:G356E	G	+	2	0	MUC21	31062998	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.756000	0.04777	-0.290000	0.09025	0.586000	0.80456	GGG	.	.	none		0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30955019	G	A	30955019	3	1	5	1	0	0	0	0	1	0	0	0	9977	1232	43	2	1073	2	MUC21	6	30955019	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	665	30955019	140160048	34	1145										
TNF	7124	hgsc.bcm.edu	37	chr6	31543608	31543608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccccagggctccaggcggtgCttgttcctcagcctcttctc	10	17	3	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr6:31543608C>T	ENST00000449264.2	+	1	265	c.90C>T	c.(88-90)tgC>tgT	p.C30C		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	30					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	CCAGGCGGTGCTTGTTCCTCA	0.632									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.C30C		Atlas-SNP	.											.	TNF	15	.	0			c.C90T						PASS	.						74	74	74					6																	31543608		2203	4300	6503	SO:0001819	synonymous_variant	7124	exon1	Familial Cancer Database	incl.: Familial Head and Neck Cancer	GCGGTGCTTGTTC	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.90C>T	6.37:g.31543608C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_000594	O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	CCDS4702.1																																																																																			.	.	none		0.632	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			T	31543608	C	T	31543608	2	4	5	1	0	0	0	0	0	0	0	1	16268	805	28	2		2	TNF	6	31543608	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	588589	31543608	139571459	35	1146										
TTK	7272	hgsc.bcm.edu	37	chr6	80751906	80751906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	caagacttttgaaaaaaaaaGgggaaaaaaatgatttgcag	9	3	0	3	rs539988632		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr6:80751906G>A	ENST00000369798.2	+	22	2672	c.2561G>A	c.(2560-2562)aGg>aAg	p.R854K	TTK_ENST00000230510.3_Missense_Mutation_p.R853K|TTK_ENST00000509894.1_Missense_Mutation_p.R853K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	854					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAAAAAAAGGGGAAAAAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		15015	0.0		0.001	False		,,,				2504	0.0				p.R854K		Atlas-SNP	.											TTK_ENST00000369798,NS,carcinoma,+1,7	TTK	199	7	1	Substitution - Missense(1)	ovary(1)	c.G2561A						scavenged	.						48	51	50					6																	80751906		2203	4286	6489	SO:0001583	missense	7272	exon22			AAAAAAGGGGAAA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2561G>A	6.37:g.80751906G>A	ENSP00000358813:p.Arg854Lys	Somatic	333	1	0.003003		WXS	Illumina HiSeq	Phase_I	268	5	0.0186567	NM_003318	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513029	0.00975	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65732	-0.17;-0.17;-0.17	5.6	4.71	0.59529	.	0.346876	0.32134	N	0.006539	T	0.26484	0.0647	L	0.36672	1.1	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.17722	0.019;0.019	T	0.22103	-1.0226	10	0.05721	T	0.95	.	14.7704	0.69671	0.0:0.0:0.8545:0.1455	.	854;853	P33981;A8K8U5	TTK_HUMAN;.	K	853;853;854	ENSP00000422936:R853K;ENSP00000230510:R853K;ENSP00000358813:R854K	ENSP00000230510:R853K	R	+	2	0	TTK	80808625	0.994000	0.37717	0.003000	0.11579	0.004000	0.04260	2.330000	0.43885	1.339000	0.45563	0.561000	0.74099	AGG	.	.	none		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80751906	G	A	80751906	3	1	5	1	0	0	0	0	1	0	0	0	16717	1000	35	2	2643	2	TTK	6	80751906	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	49208298	80751906	90363161	36	1147										
PRR18	285800	hgsc.bcm.edu	37	chr6	166721424	166721424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gagacgcccggaggggccggCggctgcgtcctgtccaggcc	18	15	0	1	rs13205770	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr6:166721424C>T	ENST00000322583.3	-	1	447	c.207G>A	c.(205-207)ccG>ccA	p.P69P		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	69	Pro-rich.									haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		GAGGGGCCGGCGGCTGCGTCC	0.826													C|||	2206	0.440495	0.2844	0.4251	5008	,	,		4957	0.6161		0.492	False		,,,				2504	0.4284				p.P69P		Atlas-SNP	.											.	PRR18	4	.	0			c.G207A						PASS	.						2	4	3					6																	166721424		540	1476	2016	SO:0001819	synonymous_variant	285800	exon1			GGCCGGCGGCTGC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.207G>A	6.37:g.166721424C>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_175922		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			C|0.517;T|0.483	0.483	strong		0.826	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		T	166721424	C	T	166721424	2	4	5	1	0	0	0	0	0	0	0	1	12590	755	27	1		1	PRR18	6	166721424	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	85969518	166721424	4393643	37	1148										
COL1A2	1278	hgsc.bcm.edu	37	chr7	94041934	94041934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ggcaggcctggcccaattggCccagctggagcaagaggaga	16	11	0	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr7:94041934C>T	ENST00000297268.6	+	25	1914	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	481					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCCCAATTGGCCCAGCTGGAG	0.512										HNSCC(75;0.22)																											p.G481G		Atlas-SNP	.											.	COL1A2	240	.	0			c.C1443T						PASS	.						51	50	50					7																	94041934		2203	4300	6503	SO:0001819	synonymous_variant	1278	exon25			AATTGGCCCAGCT	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1443C>T	7.37:g.94041934C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	47	8	0.170213	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																			.	.	none		0.512	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94041934	C	T	94041934	2	4	5	1	0	0	0	0	0	0	0	1	3678	726	26	2		2	COL1A2	7	94041934	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		94041934	65096729	38	1149										
CUX1	1523	hgsc.bcm.edu	37	chr7	101892121	101892121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcggccccgagctccgcgccGccgcccagcaacagcagcag	13	20	0	0	rs410825	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr7:101892121G>A	ENST00000292535.7	+	24	4355	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.P1281P|CUX1_ENST00000546411.2_Silent_p.P1337P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.P1450P|CUX1_ENST00000549414.2_Silent_p.P1417P|CUX1_ENST00000550008.2_Silent_p.P1383P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1439					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTCCGCGCCGCCGCCCAGCA	0.831													G|||	2727	0.544529	0.3147	0.5	5008	,	,		1201	0.9097		0.4901	False		,,,				2504	0.5665				p.P1450P		Atlas-SNP	.											.	CUX1	253	.	0			c.G4350A						PASS	.						1	1	1					7																	101892121		593	1623	2216	SO:0001819	synonymous_variant	1523	exon24			CGCGCCGCCGCCC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.4317G>A	7.37:g.101892121G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001202543	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																			G|0.460;A|0.540	0.540	strong		0.831	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101892121	G	A	101892121	2	1	5	1	0	0	0	0	0	0	0	1	4064	1074	38	1		1	CUX1	7	101892121	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	7850187	101892121	57246542	39	1150										
GALNT11	63917	hgsc.bcm.edu	37	chr7	151818642	151818642	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ttttttcagaaaaacaatcgGctataccaggtgtcggttgg	10	7	1	1	rs201978640		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr7:151818642G>T	ENST00000434507.1	+	14	2144	c.1707G>T	c.(1705-1707)cgG>cgT	p.R569R	GALNT11_ENST00000452146.2_Silent_p.R488R|GALNT11_ENST00000320311.2_Silent_p.R569R|GALNT11_ENST00000430044.2_Silent_p.R569R|RP5-981O7.2_ENST00000424630.1_RNA			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	569	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAACAATCGGCTATACCAGG	0.483																																					p.R569R		Atlas-SNP	.											GALNT11,colon,carcinoma,+1,1	GALNT11	59	1	0			c.G1707T						scavenged	.						89	82	84					7																	151818642		2203	4300	6503	SO:0001819	synonymous_variant	63917	exon12			CAATCGGCTATAC	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1707G>T	7.37:g.151818642G>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	189	3	0.015873	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	CCDS5930.1																																																																																			G|0.999;A|0.001	.	alt		0.483	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		T	151818642	G	T	151818642	2	4	5	1	0	0	0	0	0	0	0	1	6209	1190	42	4		4	GALNT11	7	151818642	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	49926521	151818642	7320021	40	1151										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2944669	2944669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ggtacatgccaagtgggtttCgtctacaggttgcattgctg	13	8	1	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:2944669C>T	ENST00000520002.1	-	50	7982	c.7427G>A	c.(7426-7428)cGa>cAa	p.R2476Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2476Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2476Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2476Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2476	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGGTTTCGTCTACAGGT	0.507																																					p.R2475Q		Atlas-SNP	.											CSMD1_ENST00000537824,NS,carcinoma,0,4	CSMD1	1469	4	4	Substitution - Missense(4)	lung(2)|skin(2)	c.G7424A						PASS	.						106	106	106					8																	2944669		2042	4187	6229	SO:0001583	missense	64478	exon49			GGGTTTCGTCTAC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7427G>A	8.37:g.2944669C>T	ENSP00000430733:p.Arg2476Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	52	9	0.173077	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	7.075	0.569036	0.13560	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.172123	0.40064	N	0.001184	T	0.19005	0.0456	L	0.27053	0.805	0.42680	D	0.993547	B;B;B	0.23442	0.015;0.066;0.085	B;B;B	0.21917	0.008;0.037;0.022	T	0.04053	-1.0981	10	0.27785	T	0.31	.	14.2967	0.66318	0.0:0.9289:0.0:0.0711	.	2476;2476;2475	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Q	2476;2476;2337;2475;2475	ENSP00000383047:R2476Q;ENSP00000430733:R2476Q;ENSP00000441462:R2475Q;ENSP00000446243:R2475Q	ENSP00000320445:R2337Q	R	-	2	0	CSMD1	2932076	0.648000	0.27313	0.059000	0.19551	0.012000	0.07955	1.487000	0.35540	2.749000	0.94314	0.561000	0.74099	CGA	.	.	none		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2944669	C	T	2944669	3	4	5	1	0	0	0	0	1	0	0	0	3944	884	31	1	3358	1	CSMD1	8	2944669	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		2944669	143419353	41	1152										
TEX15	56154	hgsc.bcm.edu	37	chr8	30706107	30706107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	acattgccctgccatggtaaCtttattgggaggtatacagt	10	8	0	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:30706107C>A	ENST00000256246.2	-	1	501	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	143					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)		GCCATGGTAACTTTATTGGGA	0.423																																					p.V143F		Atlas-SNP	.											TEX15,colon,carcinoma,+1,1	TEX15	350	1	0			c.G427T						PASS	.						116	111	113					8																	30706107		2203	4300	6503	SO:0001583	missense	56154	exon1			TGGTAACTTTATT	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.427G>T	8.37:g.30706107C>A	ENSP00000256246:p.Val143Phe	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	111	7	0.0630631	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025481	0.35701	.	.	ENSG00000133863	ENST00000256246	T	0.13196	2.61	5.51	-1.39	0.08997	.	1.516910	0.03687	N	0.246505	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	P	0.44380	0.834	P	0.45506	0.483	T	0.41088	-0.9528	10	0.87932	D	0	.	10.4415	0.44469	0.0:0.5403:0.0:0.4597	.	143	Q9BXT5	TEX15_HUMAN	F	143	ENSP00000256246:V143F	ENSP00000256246:V143F	V	-	1	0	TEX15	30825649	0.034000	0.19679	0.002000	0.10522	0.030000	0.12068	0.067000	0.14510	-0.081000	0.12662	-0.302000	0.09304	GTT	.	.	none		0.423	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30706107	C	A	30706107	3	1	5	1	0	0	0	0	1	0	0	0	15776	565	20	4	7958	4	TEX15	8	30706107	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	27761438	30706107	115657915	42	1153										
ASPH	444	hgsc.bcm.edu	37	chr8	62430094	62430094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	agaggacccatacttggtctCgttggcacatcgaatcttgc	10	11	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:62430094C>T	ENST00000379454.4	-	24	2306	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	ASPH_ENST00000541428.1_Missense_Mutation_p.E678K	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	707					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TACTTGGTCTCGTTGGCACAT	0.507																																					p.E707K		Atlas-SNP	.											.	ASPH	87	.	0			c.G2119A						PASS	.						171	121	138					8																	62430094		2203	4300	6503	SO:0001583	missense	444	exon24			TGGTCTCGTTGGC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2119G>A	8.37:g.62430094C>T	ENSP00000368767:p.Glu707Lys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	13	0.168831	NM_004318	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768991	0.49680	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.43688	0.94;0.94	5.96	4.19	0.49359	.	0.116455	0.64402	D	0.000016	T	0.43144	0.1234	M	0.80422	2.495	0.80722	D	1	B;P	0.50943	0.235;0.94	B;B	0.37346	0.092;0.247	T	0.50734	-0.8793	10	0.49607	T	0.09	-19.997	12.9723	0.58520	0.0:0.8691:0.0:0.1309	.	678;707	F5H667;Q12797	.;ASPH_HUMAN	K	678;707	ENSP00000437864:E678K;ENSP00000368767:E707K	ENSP00000368767:E707K	E	-	1	0	ASPH	62592648	0.996000	0.38824	0.678000	0.29963	0.418000	0.31294	3.084000	0.50143	0.872000	0.35775	0.650000	0.86243	GAG	.	.	none		0.507	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		T	62430094	C	T	62430094	3	4	5	1	0	0	0	0	1	0	0	0	1053	893	31	1	165	1	ASPH	8	62430094	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	31723987	62430094	83933928	43	1154										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113657379	113657379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cagtccatgtacaattcagaGaatttggataaaattccggg	9	7	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:113657379G>A	ENST00000297405.5	-	20	3513	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S986F|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1050F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1090F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1090	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1090Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAATTCAGAGAATTTGGATA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S1090F		Atlas-SNP	.											CSMD3_ENST00000343508,NS,carcinoma,0,5	CSMD3	2325	5	1	Substitution - Missense(1)	large_intestine(1)	c.C3269T						PASS	.						92	92	92					8																	113657379		2203	4300	6503	SO:0001583	missense	114788	exon20			TTCAGAGAATTTG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3269C>T	8.37:g.113657379G>A	ENSP00000297405:p.Ser1090Phe	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	66	14	0.212121	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979091	0.74360	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.68	5.68	0.88126	CUB (5);	0.073489	0.56097	D	0.000033	T	0.54565	0.1866	M	0.62016	1.91	0.43069	D	0.994709	B;B;D	0.67145	0.016;0.02;0.996	B;B;D	0.66602	0.026;0.044;0.945	T	0.53301	-0.8458	10	0.66056	D	0.02	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	986;1090;1050	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1050;1090;430;986;1090	ENSP00000345799:S1050F;ENSP00000297405:S1090F;ENSP00000341558:S430F;ENSP00000412263:S986F;ENSP00000343124:S1090F	ENSP00000297405:S1090F	S	-	2	0	CSMD3	113726555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.677000	0.74503	2.838000	0.97847	0.591000	0.81541	TCT	.	.	none		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113657379	G	A	113657379	3	1	5	1	0	0	0	0	1	0	0	0	3946	942	33	2	8062	2	CSMD3	8	113657379	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	51227285	113657379	32706643	44	1155										
COL22A1	169044	hgsc.bcm.edu	37	chr8	139606427	139606427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccgggggcatctgggccaggAggtaggcgagtctggctgta	19	9	2	0	rs72727814	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:139606427A>G	ENST00000303045.6	-	63	4894	c.4448T>C	c.(4447-4449)cTc>cCc	p.L1483P	COL22A1_ENST00000435777.1_Missense_Mutation_p.L1463P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1483	Gly-rich.|Pro-rich.				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)			CTGGGCCAGGAGGTAGGCGAG	0.577										HNSCC(7;0.00092)																											p.L1483P		Atlas-SNP	.											.	COL22A1	390	.	0			c.T4448C						PASS	.						35	39	37					8																	139606427		2203	4300	6503	SO:0001583	missense	169044	exon63			GCCAGGAGGTAGG	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.4448T>C	8.37:g.139606427A>G	ENSP00000303153:p.Leu1483Pro	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	117	11	0.0940171	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924459	0.52653	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.90504	-2.68;-2.57	5.92	5.92	0.95590	.	0.155601	0.29783	N	0.011218	D	0.93943	0.8061	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77004	0.989;0.972	D	0.92409	0.5936	10	0.26408	T	0.33	.	15.5808	0.76439	1.0:0.0:0.0:0.0	.	1463;1483	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	P	1483;1463;1176	ENSP00000303153:L1483P;ENSP00000387655:L1463P	ENSP00000303153:L1483P	L	-	2	0	COL22A1	139675609	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.098000	0.76974	2.275000	0.75901	0.529000	0.55759	CTC	A|0.995;T|0.005	.	alt		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		G	139606427	A	G	139606427	3	3	5	1	0	0	0	0	1	0	0	0	3681	304	11	3	444	3	COL22A1	8	139606427	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	25949048	139606427	6757595	45	1156										
FAM83H	286077	hgsc.bcm.edu	37	chr8	144810138	144810138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcccgtcgggtccgagctccGggaagcggggcccggcgccc	18	17	0	0	rs1137806	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr8:144810138G>A	ENST00000388913.3	-	5	1618	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	498					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCGAGCTCCGGGAAGCGGGG	0.771													G|||	831	0.165935	0.0083	0.147	5008	,	,		6578	0.247		0.1451	False		,,,				2504	0.3303				p.P498L		Atlas-SNP	.											.	FAM83H	68	.	0			c.C1493T						PASS	.	G	LEU/PRO	64,3096		3,58,1519	4	7	6		1493	4.4	0.3	8	dbSNP_86	6	767,6345		32,703,2821	no	missense	FAM83H	NM_198488.3	98	35,761,4340	AA,AG,GG		10.7846,2.0253,8.09	benign	498/1180	144810138	831,9441	1580	3556	5136	SO:0001583	missense	286077	exon5			AGCTCCGGGAAGC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1493C>T	8.37:g.144810138G>A	ENSP00000373565:p.Pro498Leu	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	11	4	0.363636	NM_198488	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	321	0.14697802197802198	19	0.03861788617886179	46	0.1270718232044199	147	0.256993006993007	109	0.1437994722955145	N	15.31	2.796089	0.50208	0.020253	0.107846	ENSG00000180921	ENST00000388913	T	0.15256	2.44	4.45	4.45	0.53987	.	425.438000	0.00924	U	0.002638	T	0.00012	0.0000	L	0.32530	0.975	0.49299	P	2.2400000000000198E-4	D	0.76494	0.999	P	0.61275	0.886	T	0.14090	-1.0485	9	0.56958	D	0.05	.	12.8618	0.57918	0.0:0.0:0.8368:0.1632	rs1137806;rs3201609	498	Q6ZRV2	FA83H_HUMAN	L	498	ENSP00000373565:P498L	ENSP00000373565:P498L	P	-	2	0	FAM83H	144882126	1.000000	0.71417	0.283000	0.24790	0.537000	0.34900	4.979000	0.63806	2.010000	0.58986	0.455000	0.32223	CCG	G|0.853;A|0.147	0.147	strong		0.771	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		A	144810138	G	A	144810138	3	1	5	1	0	0	0	0	1	0	0	0	5640	1116	39	1	2050	1	FAM83H	8	144810138	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	5203711	144810138	1553884	46	1157										
GDA	9615	hgsc.bcm.edu	37	chr9	74838127	74838127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gggcaacattgctaaaacccGtgatttgcacattcaggtgg	11	9	1	1	rs142139311	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr9:74838127G>A	ENST00000358399.3	+	7	791	c.698G>A	c.(697-699)cGt>cAt	p.R233H	GDA_ENST00000238018.4_Missense_Mutation_p.R233H|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.R159H|GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	233					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCTAAAACCCGTGATTTGCAC	0.433													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18219	0.001		0.0	False		,,,				2504	0.0				p.R233H		Atlas-SNP	.											.	GDA	113	.	0			c.G698A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	174	154	161		698,476,476,698	-1.5	0.9	9	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense,missense,missense	GDA	NM_001242505.1,NM_001242506.1,NM_001242507.1,NM_004293.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	233/472,159/381,159/381,233/455	74838127	1,13005	2203	4300	6503	SO:0001583	missense	9615	exon7			AAACCCGTGATTT	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.698G>A	9.37:g.74838127G>A	ENSP00000351170:p.Arg233His	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_004293	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	1.462	-0.562132	0.03939	2.27E-4	0.0	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.58	-1.51	0.08664	Amidohydrolase 1 (1);	0.560216	0.21401	N	0.075150	T	0.66376	0.2783	N	0.00496	-1.435	0.27209	N	0.959976	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61402	-0.7070	10	0.15066	T	0.55	-0.897	10.6755	0.45783	0.739:0.0:0.261:0.0	.	233;233	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	H	159;233;233;99	ENSP00000437972:R159H;ENSP00000238018:R233H;ENSP00000351170:R233H;ENSP00000403897:R99H	ENSP00000238018:R233H	R	+	2	0	GDA	74027947	0.001000	0.12720	0.885000	0.34714	0.643000	0.38383	0.307000	0.19296	-0.524000	0.06400	-0.783000	0.03347	CGT	G|1.000;A|0.000	0.000	weak		0.433	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			A	74838127	G	A	74838127	3	1	5	1	0	0	0	0	1	0	0	0	6306	1145	40	1	724	1	GDA	9	74838127	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		74838127	66375304	47	1158										
FBP2	8789	hgsc.bcm.edu	37	chr9	97321395	97321395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tgatgtaggccacgggattgCattcatacaggagccggagc	14	9	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr9:97321395C>T	ENST00000375337.3	-	7	911	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	282					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CACGGGATTGCATTCATACAG	0.597																																					p.C282Y		Atlas-SNP	.											.	FBP2	26	.	0			c.G845A						PASS	.						56	53	54					9																	97321395		2203	4300	6503	SO:0001583	missense	8789	exon7			GGATTGCATTCAT	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.845G>A	9.37:g.97321395C>T	ENSP00000364486:p.Cys282Tyr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	6	0.0967742	NM_003837	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.645909	0.87958	.	.	ENSG00000130957	ENST00000375337	T	0.73152	-0.72	5.43	5.43	0.79202	.	0.045824	0.85682	D	0.000000	D	0.88786	0.6531	H	0.94734	3.575	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.91262	0.5037	10	0.87932	D	0	0.263	19.4276	0.94749	0.0:1.0:0.0:0.0	.	282	O00757	F16P2_HUMAN	Y	282	ENSP00000364486:C282Y	ENSP00000364486:C282Y	C	-	2	0	FBP2	96361216	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.327000	0.79147	2.813000	0.96785	0.655000	0.94253	TGC	.	.	none		0.597	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97321395	C	T	97321395	3	4	5	1	0	0	0	0	1	0	0	0	5706	710	25	2	178	2	FBP2	9	97321395	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	22483268	97321395	43892036	48	1159										
FPGS	2356	hgsc.bcm.edu	37	chr9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cagcggcgtctgcgcgcggcAtaacgacccaggtcgcggcg	16	15	1	0	rs11554717|rs10760502	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000393706.2_Missense_Mutation_p.I22V|FPGS_ENST00000373245.1_Missense_Mutation_p.I22V|FPGS_ENST00000373225.3_5'Flank|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		Atlas-SNP	.											.	FPGS	30	.	0			c.A64G						PASS	.		VAL/ILE	2249,281		997,255,13	1	3	2		64	1.8	0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_004957	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.234;G|0.766	0.766	strong		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130565267	A	G	130565267	3	3	5	1	0	0	0	0	1	0	0	0	6036	217	8	2	66	2	FPGS	9	130565267	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	33243872	130565267	10648164	49	1160										
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		Atlas-SNP	.											WDR34,cerebellum,glioma,0,1	WDR34	29	1	0			c.T178G						scavenged	.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_052844	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994	0.994	strong		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	5	1	0	0	0	0	1	0	0	0	17285	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	853561	131418828	9794603	50	1161										
NEBL	10529	hgsc.bcm.edu	37	chr10	21309077	21309077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	attcactttgctgcttcaggCgaagattttcaggtgtatct	9	8	4	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr10:21309077C>T	ENST00000417816.2	-	3	571	c.218G>A	c.(217-219)cGc>cAc	p.R73H	NEBL_ENST00000377159.4_Missense_Mutation_p.R39H	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	737					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGCTTCAGGCGAAGATTTTC	0.413																																					p.R73H		Atlas-SNP	.											NEBL_ENST00000417816,NS,malignant_melanoma,-1,2	NEBL	199	2	0			c.G218A						PASS	.						105	99	101					10																	21309077		2203	4300	6503	SO:0001583	missense	10529	exon3			TTCAGGCGAAGAT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.218G>A	10.37:g.21309077C>T	ENSP00000393896:p.Arg73His	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	113	8	0.0707965	NM_001173484	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.819770	0.90873	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.42131	0.98;0.98	5.24	5.24	0.73138	.	.	.	.	.	T	0.61223	0.2330	L	0.53729	1.69	0.41209	D	0.986421	D	0.89917	1.0	D	0.91635	0.999	T	0.60459	-0.7259	9	0.48119	T	0.1	.	17.9579	0.89075	0.0:1.0:0.0:0.0	.	73	Q70I54	.	H	73;39	ENSP00000393896:R73H;ENSP00000366364:R39H	ENSP00000366364:R39H	R	-	2	0	NEBL	21349083	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.105000	0.71505	2.595000	0.87683	0.651000	0.88453	CGC	.	.	none		0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		T	21309077	C	T	21309077	3	4	5	1	0	0	0	0	1	0	0	0	10303	768	27	1	3303	1	NEBL	10	21309077	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		21309077	114225670	51	1162										
ZNF503	84858	hgsc.bcm.edu	37	chr10	77158962	77158962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ggggtagagggggtggccggCcagggagggcggtgtggcgc	26	7	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr10:77158962C>T	ENST00000372524.4	-	2	1972	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.A496T|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	496					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGGTGGCCGGCCAGGGAGGGC	0.687																																					p.A496T		Atlas-SNP	.											.	ZNF503	25	.	0			c.G1486A						PASS	.						14	16	15					10																	77158962		2197	4291	6488	SO:0001583	missense	84858	exon2			GGCCGGCCAGGGA	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1486G>A	10.37:g.77158962C>T	ENSP00000361602:p.Ala496Thr	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_032772	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	9.686	1.150705	0.21371	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.49720	0.77;0.77	4.04	4.04	0.47022	.	0.331694	0.32918	N	0.005493	T	0.31263	0.0791	N	0.24115	0.695	0.35873	D	0.828373	B	0.18863	0.031	B	0.13407	0.009	T	0.29822	-0.9999	10	0.19590	T	0.45	-16.1824	11.987	0.53153	0.0:0.8248:0.1752:0.0	.	496	Q96F45	ZN503_HUMAN	T	496;496;459	ENSP00000361602:A496T;ENSP00000438988:A496T	ENSP00000361594:A459T	A	-	1	0	ZNF503	76828968	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.688000	0.25422	2.084000	0.62774	0.551000	0.68910	GCC	.	.	none		0.687	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77158962	C	T	77158962	3	4	5	1	0	0	0	0	1	0	0	0	17948	739	26	2	458	2	ZNF503	10	77158962	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	55849885	77158962	58375785	52	1163										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016693	1016693	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gttggcgttgagtggatggaGgcagaagtggccatctgtgt	18	5	1	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr11:1016693G>C	ENST00000421673.2	-	31	6158	c.6108C>G	c.(6106-6108)gcC>gcG	p.A2036A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2036	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGATGGAGGCAGAAGTGG	0.567																																					p.A2036A		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-1,2	MUC6	408	2	0			c.C6108G						scavenged	.						543	499	514					11																	1016693		2202	4293	6495	SO:0001819	synonymous_variant	4588	exon31			GATGGAGGCAGAA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6108C>G	11.37:g.1016693G>C		Somatic	461	4	0.00867679		WXS	Illumina HiSeq	Phase_I	337	11	0.0326409	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016693	G	C	1016693	2	2	5	1	0	0	0	0	0	0	0	1	9980	987	35	4		4	MUC6	11	1016693	Silent	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		1016693	133989823	53	1164										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	522	30	0.0574713		WXS	Illumina HiSeq	Phase_I	410	17	0.0414634	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	5	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	54638904	55655597	79350919	54	1165										
CCDC81	60494	hgsc.bcm.edu	37	chr11	86131001	86131001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	acagaaccgctgagctggagCgagtaaatagagtcaaccaa	11	9	1	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr11:86131001C>T	ENST00000445632.2	+	14	1995	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.R310*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.R310*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.R485*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	575										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TGAGCTGGAGCGAGTAAATAG	0.507																																					p.R575X		Atlas-SNP	.											.	CCDC81	89	.	0			c.C1723T						PASS	.						87	75	79					11																	86131001		2202	4299	6501	SO:0001587	stop_gained	60494	exon14			CTGGAGCGAGTAA	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1723C>T	11.37:g.86131001C>T	ENSP00000415528:p.Arg575*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	74	16	0.216216	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	44	10.710250	0.99454	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.16	1.89	0.25635	.	0.306262	0.25236	N	0.032136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.9965	10.4293	0.44398	0.5496:0.4504:0.0:0.0	.	.	.	.	X	485;310;575;310	.	.	R	+	1	2	CCDC81	85808649	0.100000	0.21855	0.007000	0.13788	0.208000	0.24298	0.133000	0.15912	0.683000	0.31428	0.555000	0.69702	CGA	.	.	none		0.507	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		T	86131001	C	T	86131001	4	4	5	1	0	0	0	0	0	1	0	0	2855	760	27	1	1777	1	CCDC81	11	86131001	Nonsense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	30475404	86131001	48875515	55	1166										
TRPC6	7225	hgsc.bcm.edu	37	chr11	101375357	101375357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcattcttctaacatcttccGcaccactgggatgttaccat	6	13	3	0	rs199884871		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr11:101375357G>A	ENST00000344327.3	-	2	767	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	TRPC6_ENST00000360497.4_Missense_Mutation_p.R115W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R115W|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.R115W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	115					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AACATCTTCCGCACCACTGGG	0.473																																					p.R115W	Colon(166;1315 1927 11094 12848 34731)	Atlas-SNP	.											TRPC6,NS,carcinoma,+1,1	TRPC6	132	1	0			c.C343T						PASS	.	G	TRP/ARG	0,4406		0,0,2203	156	142	147		343	4	1	11		147	1,8597	1.2+/-3.3	0,1,4298	no	missense	TRPC6	NM_004621.5	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	115/932	101375357	1,13003	2203	4299	6502	SO:0001583	missense	7225	exon2			TCTTCCGCACCAC	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.343C>T	11.37:g.101375357G>A	ENSP00000340913:p.Arg115Trp	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	72	6	0.0833333	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607032	0.66558	0.0	1.16E-4	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.96	3.95	0.45737	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.82130	0.4970	M	0.83692	2.655	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.999;0.992	D	0.83852	0.0263	10	0.72032	D	0.01	-15.8714	13.7254	0.62754	0.0:0.0:0.6021:0.3979	.	115;115;115	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	W	115	ENSP00000340913:R115W;ENSP00000435574:R115W;ENSP00000343672:R115W;ENSP00000353687:R115W	ENSP00000340913:R115W	R	-	1	2	TRPC6	100880567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.284000	0.43478	0.673000	0.31224	0.655000	0.94253	CGG	.	.	weak		0.473	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101375357	G	A	101375357	3	1	5	1	0	0	0	0	1	0	0	0	16580	1086	38	1	2500	1	TRPC6	11	101375357	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	15244356	101375357	33631159	56	1167										
GDF3	9573	hgsc.bcm.edu	37	chr12	7848214	7848214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	aacttctggggtgaaggcgcCttatctaagcccagaaattg	11	9	2	2	rs376751766		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr12:7848214C>T	ENST00000329913.3	-	1	158	c.111G>A	c.(109-111)aaG>aaA	p.K37K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	37					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGAAGGCGCCTTATCTAAGC	0.478																																					p.K37K		Atlas-SNP	.											.	GDF3	68	.	0			c.G111A						PASS	.	C		0,4406		0,0,2203	47	48	48		111	-1.4	0	12		48	1,8599		0,1,4299	no	coding-synonymous	GDF3	NM_020634.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		37/365	7848214	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9573	exon1			AGGCGCCTTATCT	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.111G>A	12.37:g.7848214C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	82	13	0.158537	NM_020634	Q8NEJ4	Silent	SNP	ENST00000329913.3	37	CCDS8581.1																																																																																			.	.	weak		0.478	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7848214	C	T	7848214	2	4	5	1	0	0	0	0	0	0	0	1	6315	680	24	2		2	GDF3	12	7848214	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		7848214	126003681	57	1168										
KRT6A	3853	hgsc.bcm.edu	37	chr12	52885485	52885485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tgcagcagggtccactttgtTtccagaaccttgttctgctg	10	11	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr12:52885485T>G	ENST00000330722.6	-	2	644	c.576A>C	c.(574-576)gaA>gaC	p.E192D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	192	Coil 1A.|Rod.			E -> D (in Ref. 1; AAB60696). {ECO:0000305}.	cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACTTTGTTTCCAGAACCT	0.532																																					p.E192D		Atlas-SNP	.											KRT6A,NS,haematopoietic_neoplasm,0,1	KRT6A	89	1	0			c.A576C						scavenged	.						66	67	67					12																	52885485		2203	4300	6503	SO:0001583	missense	3853	exon2			CTTTGTTTCCAGA	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.576A>C	12.37:g.52885485T>G	ENSP00000369317:p.Glu192Asp	Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	78	5	0.0641026	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	15.33	2.801841	0.50315	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.78595	-1.19	5.26	-1.41	0.08941	Filament (1);	0.298035	0.28414	N	0.015426	T	0.76772	0.4034	M	0.92555	3.32	0.31174	N	0.70282	B	0.24651	0.108	B	0.31016	0.123	T	0.68059	-0.5509	10	0.40728	T	0.16	.	2.0814	0.03635	0.1319:0.2762:0.2398:0.352	.	192	P02538	K2C6A_HUMAN	D	192;148	ENSP00000369317:E192D	ENSP00000369317:E192D	E	-	3	2	KRT6A	51171752	0.999000	0.42202	0.994000	0.49952	0.965000	0.64279	0.625000	0.24477	-0.197000	0.10350	-0.302000	0.09304	GAA	.	.	none		0.532	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		G	52885485	T	G	52885485	3	3	5	1	0	0	0	0	1	0	0	0	8480	1838	64	5	1150	5	KRT6A	12	52885485	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	45037271	52885485	80966410	58	1169										
BTG1	694	hgsc.bcm.edu	37	chr12	92539200	92539200	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	caggctctggctgaaggtctGcagctgtcgctcgctcgtga	14	12	2	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr12:92539200G>A	ENST00000256015.3	-	1	473	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	38					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.Q38E(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGAAGGTCTGCAGCTGTCGC	0.682			T	MYC	BCLL																																p.Q38X		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	BTG1,NS,lymphoid_neoplasm,0,1	BTG1	30	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C112T						scavenged	.						37	40	39					12																	92539200		2203	4300	6503	SO:0001587	stop_gained	694	exon1			AGGTCTGCAGCTG		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.112C>T	12.37:g.92539200G>A	ENSP00000256015:p.Gln38*	Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	85	12	0.141176	NM_001731	P31607	Nonsense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	G	39	7.775086	0.98483	.	.	ENSG00000133639	ENST00000256015	.	.	.	3.92	1.83	0.25207	.	0.185973	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.618	9.7333	0.40374	0.0:0.1525:0.6897:0.1579	.	.	.	.	X	38	.	ENSP00000256015:Q38X	Q	-	1	0	BTG1	91063331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.272000	0.89885	0.765000	0.33221	0.455000	0.32223	CAG	.	.	none		0.682	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92539200	G	A	92539200	4	1	5	1	0	0	0	0	0	1	0	0	1553	1328	46	2	411	2	BTG1	12	92539200	Nonsense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	39653715	92539200	41312695	59	1170										
RNF10	9921	hgsc.bcm.edu	37	chr12	121014414	121014414	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	agagaaaggaggaaagaaaaGaaaaaaacagaaacagaagc	11	3	0	5			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr12:121014414G>C	ENST00000325954.4	+	17	2842	c.2381G>C	c.(2380-2382)aGa>aCa	p.R794T	RNF10_ENST00000413266.2_Missense_Mutation_p.R799T|RNF10_ENST00000542701.1_3'UTR|POP5_ENST00000542776.1_5'Flank	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	794					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ggaaagaaaagaaaaaaacag	0.443																																					p.R794T		Atlas-SNP	.											.	RNF10	75	.	0			c.G2381C						PASS	.						84	80	81					12																	121014414		2203	4300	6503	SO:0001583	missense	9921	exon17			AGAAAAGAAAAAA	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2381G>C	12.37:g.121014414G>C	ENSP00000322242:p.Arg794Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	77	14	0.181818	NM_014868	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368859	0.61624	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.89415	-2.51;-2.51	6.09	6.09	0.99107	.	0.204155	0.51477	D	0.000100	D	0.82554	0.5062	L	0.36672	1.1	0.50813	D	0.999892	B;P	0.48764	0.277;0.915	B;B	0.36922	0.068;0.236	D	0.84750	0.0756	10	0.72032	D	0.01	.	12.9234	0.58245	0.0733:0.0:0.9267:0.0	.	799;794	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	T	794;794;799;129	ENSP00000322242:R794T;ENSP00000415682:R799T	ENSP00000322242:R794T	R	+	2	0	RNF10	119498797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.030000	0.64128	2.899000	0.99337	0.655000	0.94253	AGA	.	.	none		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			C	121014414	G	C	121014414	3	2	5	1	0	0	0	0	1	0	0	0	13422	942	33	4	2447	4	RNF10	12	121014414	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	28475214	121014414	12837481	60	1171										
GOLGA3	2802	hgsc.bcm.edu	37	chr12	133389993	133389993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccttctccaggggcaggggaGaatctgtagagcctgcagtg	15	10	2	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr12:133389993G>T	ENST00000450791.2	-	3	602	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S140Y|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S140Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S140Y|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S140Y			Q08378	GOGA3_HUMAN	golgin A3	140	Interaction with GOPC.	Cleavage; by caspase-3.			intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGGCAGGGGAGAATCTGTAGA	0.512																																					p.S140Y		Atlas-SNP	.											.	GOLGA3	234	.	0			c.C419A						PASS	.						51	46	48					12																	133389993		2203	4300	6503	SO:0001583	missense	2802	exon4			AGGGGAGAATCTG	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.419C>A	12.37:g.133389993G>T	ENSP00000410378:p.Ser140Tyr	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	43	7	0.162791	NM_001172557	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118729	0.37436	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.35236	1.75;1.75;1.75;1.32;1.32	5.21	5.21	0.72293	.	0.414396	0.28665	N	0.014554	T	0.36026	0.0952	L	0.43152	1.355	0.80722	D	1	P;B;P	0.45078	0.85;0.432;0.492	B;B;B	0.40534	0.246;0.246;0.332	T	0.32587	-0.9901	10	0.72032	D	0.01	.	18.3644	0.90385	0.0:0.0:1.0:0.0	.	140;140;140	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Y	140	ENSP00000204726:S140Y;ENSP00000410378:S140Y;ENSP00000409303:S140Y;ENSP00000442143:S140Y;ENSP00000442603:S140Y	ENSP00000204726:S140Y	S	-	2	0	GOLGA3	131900066	1.000000	0.71417	0.069000	0.20011	0.265000	0.26407	8.069000	0.89491	2.414000	0.81942	0.462000	0.41574	TCT	.	.	none		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		T	133389993	G	T	133389993	3	4	5	1	0	0	0	0	1	0	0	0	6554	942	33	4	4299	4	GOLGA3	12	133389993	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	12375579	133389993	461902	61	1172										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751301	19751301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gccttctcggctgagatgacCggggcgtaggtggccagggg	19	10	1	2	rs140548354		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAGATGACCGGGGCGTAGG	0.607																																					p.P274P		Atlas-SNP	.											TUBA3C,bladder,carcinoma,-2,1	TUBA3C	166	1	0			c.G822A						scavenged	.						123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GATGACCGGGGCG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.822G>A	13.37:g.19751301C>T		Somatic	127	5	0.0393701		WXS	Illumina HiSeq	Phase_I	112	6	0.0535714	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			C|0.999;T|0.001	0.001	weak		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	5	1	0	0	0	0	0	0	0	1	16743	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		19751301	95418577	62	1173										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	605	4	0.00661157		WXS	Illumina HiSeq	Phase_I	615	10	0.0162602	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	5	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	305378	20056679	95113199	63	1174										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	caacacagacagtgggtccaCgtcctgcagctgctgctgct	11	14	0	1	rs113416318	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491				p.R487C		Atlas-SNP	.											PABPC3,rectum,carcinoma,0,1	PABPC3	129	1	0			c.C1459T						scavenged	.																																			SO:0001583	missense	5042	exon1			GGTCCACGTCCTG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys	Somatic	51	2	0.0392157		WXS	Illumina HiSeq	Phase_I	69	7	0.101449	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT	C|0.988;T|0.012	0.012	strong		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	5	1	0	0	0	0	1	0	0	0	11365	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	5615116	25671795	89498083	64	1175										
AKAP11	11215	hgsc.bcm.edu	37	chr13	42877901	42877901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	agcagtaccagcctggcagcCgacagtgggatcggacagga	15	11	0	0	rs201525107	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:42877901C>T	ENST00000025301.2	+	8	5194	c.5019C>T	c.(5017-5019)gcC>gcT	p.A1673A		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1673					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCCTGGCAGCCGACAGTGGGA	0.507													C|||	3	0.000599042	0.0	0.0	5008	,	,		18914	0.003		0.0	False		,,,				2504	0.0				p.A1673A		Atlas-SNP	.											.	AKAP11	146	.	0			c.C5019T						PASS	.						37	35	36					13																	42877901		2203	4300	6503	SO:0001819	synonymous_variant	11215	exon8			GGCAGCCGACAGT	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5019C>T	13.37:g.42877901C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	96	24	0.25	NM_016248	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																			C|1.000;T|0.000	0.000	strong		0.507	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		T	42877901	C	T	42877901	2	4	5	1	0	0	0	0	0	0	0	1	447	639	23	1		1	AKAP11	13	42877901	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	17206106	42877901	72291977	65	1176										
EPSTI1	94240	hgsc.bcm.edu	37	chr13	43474489	43474489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tttggctctttcttgctcttGctgctgccgtttcagttcca	8	12	4	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:43474489G>T	ENST00000398762.3	-	10	804	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q258K|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q269K			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	269										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCTTGCTCTTGCTGCTGCCGT	0.353																																					p.Q269K		Atlas-SNP	.											.	EPSTI1	47	.	0			c.C805A						PASS	.						210	180	191					13																	43474489		2202	4300	6502	SO:0001583	missense	94240	exon10			GCTCTTGCTGCTG	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.805C>A	13.37:g.43474489G>T	ENSP00000381746:p.Gln269Lys	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_001002264	Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189527	0.38707	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.21191	2.02	5.15	3.42	0.39159	.	0.315322	0.27535	N	0.018925	T	0.27629	0.0679	M	0.67953	2.075	0.27333	N	0.956715	P;P	0.51537	0.946;0.946	P;P	0.48840	0.592;0.592	T	0.10064	-1.0646	10	0.49607	T	0.09	-9.5038	7.5873	0.27999	0.085:0.3183:0.5966:0.0	.	258;269	Q96J88-2;Q96J88-3	.;.	K	269;258;269	ENSP00000318982:Q269K	ENSP00000318643:Q258K	Q	-	1	0	EPSTI1	42372489	0.720000	0.27996	0.948000	0.38648	0.158000	0.22134	0.469000	0.22067	0.869000	0.35703	0.650000	0.86243	CAA	.	.	none		0.353	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		T	43474489	G	T	43474489	3	4	5	1	0	0	0	0	1	0	0	0	5198	1328	46	4	443	4	EPSTI1	13	43474489	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	596588	43474489	71695389	66	1177										
DCT	1638	hgsc.bcm.edu	37	chr13	95092324	95092324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gccaacctggagtttcttcaActgaaactaaagcagaagag	9	9	2	3	rs138244474		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:95092324A>G	ENST00000377028.5	-	8	1801	c.1388T>C	c.(1387-1389)gTt>gCt	p.V463A	DCT_ENST00000446125.1_Missense_Mutation_p.V496A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	463					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGTTTCTTCAACTGAAACTAA	0.428																																					p.V496A		Atlas-SNP	.											DCT_ENST00000446125,colon,carcinoma,0,2	DCT	186	2	0			c.T1487C						scavenged	.	A	ALA/VAL,ALA/VAL	0,4406		0,0,2203	56	56	56		1487,1388	-0.7	0.8	13	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DCT	NM_001129889.1,NM_001922.3	64,64	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	496/553,463/520	95092324	1,13005	2203	4300	6503	SO:0001583	missense	1638	exon10			TCTTCAACTGAAA	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1388T>C	13.37:g.95092324A>G	ENSP00000366227:p.Val463Ala	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	92	12	0.130435	NM_001129889	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.082364	0.00371	0.0	1.16E-4	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99023	-5.32;-5.34	4.7	-0.737	0.11129	.	0.914482	0.09445	N	0.801161	D	0.95262	0.8463	L	0.29908	0.895	0.19300	N	0.999973	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	D	0.89694	0.3900	10	0.09590	T	0.72	-2.0498	4.6745	0.12705	0.6146:0.0:0.2503:0.1351	.	496;463	Q09GT4;P40126	.;TYRP2_HUMAN	A	463;496	ENSP00000366227:V463A;ENSP00000392762:V496A	ENSP00000366227:V463A	V	-	2	0	DCT	93890325	0.000000	0.05858	0.758000	0.31321	0.085000	0.17905	-0.583000	0.05807	-0.035000	0.13691	0.460000	0.39030	GTT	A|1.000;G|0.000	0.000	weak		0.428	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			G	95092324	A	G	95092324	3	3	5	1	0	0	0	0	1	0	0	0	4304	43	2	2	175	2	DCT	13	95092324	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	51617835	95092324	20077554	67	1178										
RASA3	22821	hgsc.bcm.edu	37	chr13	114783725	114783725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gtgggccgcagacgctgacaCgggctgcggggaggggtgag	22	9	0	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr13:114783725C>T	ENST00000334062.7	-	11	1067	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	RASA3_ENST00000389544.4_Missense_Mutation_p.V284M|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	316					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GACGCTGACACGGGCTGCGGG	0.682																																					p.V316M		Atlas-SNP	.											.	RASA3	83	.	0			c.G946A						PASS	.						9	8	8					13																	114783725		2091	4147	6238	SO:0001583	missense	22821	exon11			CTGACACGGGCTG		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.946G>A	13.37:g.114783725C>T	ENSP00000335029:p.Val316Met	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	84	18	0.214286	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529328	0.64860	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.17691	2.26;2.26	4.49	4.49	0.54785	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.062063	0.64402	D	0.000006	T	0.36220	0.0959	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.09058	-1.0692	9	.	.	.	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	316	Q14644	RASA3_HUMAN	M	316;284	ENSP00000335029:V316M;ENSP00000374195:V284M	.	V	-	1	0	RASA3	113801827	1.000000	0.71417	0.760000	0.31359	0.031000	0.12232	4.899000	0.63245	2.004000	0.58718	0.491000	0.48974	GTG	.	.	none		0.682	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		T	114783725	C	T	114783725	3	4	5	1	0	0	0	0	1	0	0	0	13062	536	19	1	1614	1	RASA3	13	114783725	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	19691401	114783725	386153	68	1179										
OR4K1	79544	hgsc.bcm.edu	37	chr14	20403925	20403925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tttttgccatcttctctataGtctatgtgacatcagtgcta	6	9	4	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr14:20403925G>T	ENST00000285600.4	+	1	159	c.100G>T	c.(100-102)Gtc>Ttc	p.V34F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTCTCTATAGTCTATGTGAC	0.378																																					p.V34F		Atlas-SNP	.											OR4K1,right_upper_lobe,carcinoma,0,2	OR4K1	108	2	0			c.G100T						scavenged	.						349	375	366					14																	20403925		2203	4300	6503	SO:0001583	missense	79544	exon1			TCTATAGTCTATG		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.100G>T	14.37:g.20403925G>T	ENSP00000285600:p.Val34Phe	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.716358	0.00706	.	.	ENSG00000155249	ENST00000285600	T	0.00063	8.78	4.77	0.625	0.17665	.	0.302462	0.24033	N	0.042178	T	0.00039	0.0001	N	0.01809	-0.71	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.37361	-0.9709	10	0.02654	T	1	.	4.2281	0.10590	0.3994:0.1673:0.4333:0.0	.	34	Q8NGD4	OR4K1_HUMAN	F	34	ENSP00000285600:V34F	ENSP00000285600:V34F	V	+	1	0	OR4K1	19473765	0.000000	0.05858	0.004000	0.12327	0.771000	0.43674	-0.319000	0.08039	-0.055000	0.13244	0.561000	0.74099	GTC	.	.	none		0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			T	20403925	G	T	20403925	3	4	5	1	0	0	0	0	1	0	0	0	11067	1029	36	4	102	4	OR4K1	14	20403925	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		20403925	86945615	69	1180										
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061				p.T102M		Atlas-SNP	.											DHRS4,NS,carcinoma,0,5	DHRS4	22	5	4	Substitution - Missense(4)	central_nervous_system(2)|lung(1)|kidney(1)	c.C305T						scavenged	.																																			SO:0001630	splice_region_variant	10901	exon2			TGGCCACGGTGAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T		Somatic	124	8	0.0645161		WXS	Illumina HiSeq	Phase_I	116	6	0.0517241	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG	.	.	none		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	T	24424420	C	T	24424420	5	4	5	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	4020495	24424420	82925120	70	1181										
ADAM21	8747	hgsc.bcm.edu	37	chr14	70924613	70924613	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gtgcttgttttgggggctttCgaggagtattaaaaataagt	13	3	0	0	rs138262361	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr14:70924613C>T	ENST00000603540.1	+	2	655	c.397C>T	c.(397-399)Cga>Tga	p.R133*	ADAM21_ENST00000267499.3_Nonsense_Mutation_p.R133*|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	133					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGGCTTTCGAGGAGTATT	0.448																																					p.R133X		Atlas-SNP	.											ADAM21_ENST00000267499,NS,carcinoma,0,6	ADAM21	181	6	0			c.C397T						scavenged	.						74	86	82					14																	70924613		2202	4300	6502	SO:0001587	stop_gained	8747	exon2			GGCTTTCGAGGAG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.397C>T	14.37:g.70924613C>T	ENSP00000474385:p.Arg133*	Somatic	96	2	0.0208333		WXS	Illumina HiSeq	Phase_I	82	7	0.0853659	NM_003813	O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034843	0.19590	.	.	ENSG00000139985	ENST00000267499	.	.	.	3.76	3.76	0.43208	.	0.682149	0.11938	U	0.515009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.162	0.54109	0.1717:0.8283:0.0:0.0	.	.	.	.	X	133	.	ENSP00000267499:R133X	R	+	1	2	ADAM21	69994366	0.003000	0.15002	0.322000	0.25334	0.071000	0.16799	1.122000	0.31295	2.090000	0.63153	0.557000	0.71058	CGA	C|0.993;T|0.007	0.007	strong		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924613	C	T	70924613	4	4	5	1	0	0	0	0	0	1	0	0	243	876	31	1	399	1	ADAM21	14	70924613	Nonsense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	46500193	70924613	36424927	71	1182										
TRIP11	9321	hgsc.bcm.edu	37	chr14	92472110	92472110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	caatggttttctcatacttgTttgcttcttccaacagcctc	5	12	2	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr14:92472110T>C	ENST00000267622.4	-	11	2583	c.2210A>G	c.(2209-2211)aAc>aGc	p.N737S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	737					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTCATACTTGTTTGCTTCTTC	0.368			T	PDGFRB	AML																																p.N737S	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	TRIP11,NS,carcinoma,0,1	TRIP11	184	1	0			c.A2210G						scavenged	.						194	196	195					14																	92472110		2203	4300	6503	SO:0001583	missense	9321	exon11			TACTTGTTTGCTT	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2210A>G	14.37:g.92472110T>C	ENSP00000267622:p.Asn737Ser	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	97	2	0.0206186	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	0.105	-1.146008	0.01714	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03860	3.78	5.77	-6.41	0.01938	.	1.047670	0.07339	N	0.880403	T	0.04679	0.0127	L	0.44542	1.39	0.09310	N	1	B;B	0.16166	0.002;0.016	B;B	0.11329	0.002;0.006	T	0.45848	-0.9233	10	0.09843	T	0.71	.	15.1293	0.72511	0.0:0.5496:0.0:0.4504	.	473;737	F5H1Z0;Q15643	.;TRIPB_HUMAN	S	737;473	ENSP00000267622:N737S	ENSP00000267622:N737S	N	-	2	0	TRIP11	91541863	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.000000	0.12993	-1.646000	0.01513	-0.361000	0.07541	AAC	.	.	none		0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92472110	T	C	92472110	3	2	5	1	0	0	0	0	1	0	0	0	16552	1725	60	2	3773	2	TRIP11	14	92472110	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	21547497	92472110	14877430	72	1183										
NEDD4	4734	hgsc.bcm.edu	37	chr15	56208006	56208006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcccttcctgtgaagcggccGtatgtctcttacttctccgg	10	14	2	1	rs370853036|rs370701101		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr15:56208006G>A	ENST00000508342.1	-	1	1323	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.R342W|NEDD4_ENST00000338963.2_Missense_Mutation_p.R342W	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	342					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAAGCGGCCGTATGTCTCTT	0.418																																					p.R342W		Atlas-SNP	.											.	NEDD4	167	.	0			c.C1024T						PASS	.	G	,TRP/ARG	0,4376		0,0,2188	65	68	67		,1024	-0.7	0.8	15		67	1,8575		0,1,4287	no	intron,missense	NEDD4	NM_006154.2,NM_198400.2	,101	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	,probably-damaging	,342/1248	56208006	1,12951	2188	4288	6476	SO:0001583	missense	4734	exon1			GCGGCCGTATGTC	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1024C>T	15.37:g.56208006G>A	ENSP00000424827:p.Arg342Trp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	64	13	0.203125	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	G	12.03	1.816573	0.32145	0.0	1.17E-4	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.45668	0.89;0.89;0.89	5.46	-0.682	0.11339	.	215.666000	0.00166	N	0.000000	T	0.48874	0.1524	M	0.63843	1.955	0.09310	N	0.999998	B;B;B	0.18968	0.032;0.019;0.032	B;B;B	0.16722	0.016;0.012;0.016	T	0.57717	-0.7763	10	0.87932	D	0	.	17.0411	0.86489	0.0:0.0:0.5238:0.4762	.	342;342;342	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	W	342	ENSP00000424827:R342W;ENSP00000345530:R342W;ENSP00000422705:R342W	ENSP00000345530:R342W	R	-	1	2	NEDD4	53995298	0.277000	0.24220	0.787000	0.31911	0.260000	0.26232	1.086000	0.30853	-0.015000	0.14150	-0.488000	0.04728	CGG	.	.	weak		0.418	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		A	56208006	G	A	56208006	3	1	5	1	0	0	0	0	1	0	0	0	10310	1144	40	1	3035	1	NEDD4	15	56208006	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10		56208006	46323386	73	1184										
AAGAB	79719	hgsc.bcm.edu	37	chr15	67524188	67524188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	attggaccacacattggcatTcagggcttggacaattcgct	10	10	1	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr15:67524188T>C	ENST00000261880.5	-	5	603	c.499A>G	c.(499-501)Aat>Gat	p.N167D	AAGAB_ENST00000542650.1_Missense_Mutation_p.N58D|AAGAB_ENST00000561452.1_Missense_Mutation_p.N58D	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	167					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						ACATTGGCATTCAGGGCTTGG	0.368																																					p.N167D		Atlas-SNP	.											.	AAGAB	24	.	0			c.A499G						PASS	.						258	249	252					15																	67524188		1926	4146	6072	SO:0001583	missense	79719	exon5			TGGCATTCAGGGC	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.499A>G	15.37:g.67524188T>C	ENSP00000261880:p.Asn167Asp	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	69	5	0.0724638	NM_024666	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830795	0.91036	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.46451	0.89;0.87	5.21	5.21	0.72293	.	0.094714	0.85682	D	0.000000	T	0.55609	0.1931	M	0.68952	2.095	0.80722	D	1	D	0.52996	0.957	P	0.55667	0.781	T	0.53760	-0.8393	10	0.32370	T	0.25	-28.4102	15.2497	0.73536	0.0:0.0:0.0:1.0	.	167	Q6PD74	AAGAB_HUMAN	D	167;58	ENSP00000261880:N167D;ENSP00000440735:N58D	ENSP00000261880:N167D	N	-	1	0	AAGAB	65311242	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.428000	0.80296	2.180000	0.69256	0.528000	0.53228	AAT	.	.	none		0.368	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		C	67524188	T	C	67524188	3	2	5	1	0	0	0	0	1	0	0	0	15	1783	62	2	472	2	AAGAB	15	67524188	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	11316182	67524188	35007204	74	1185										
HAGHL	84264	hgsc.bcm.edu	37	chr16	778158	778158	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gagctggcgcggcttcgtccCgggctggcggtgctgggcgc	20	13	0	0	rs1406815	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr16:778158C>G	ENST00000341413.4	+	4	494	c.213C>G	c.(211-213)ccC>ccG	p.P71P	HAGHL_ENST00000564537.1_Silent_p.P71P|HAGHL_ENST00000389703.3_Silent_p.P71P|HAGHL_ENST00000564545.1_Missense_Mutation_p.R50G|HAGHL_ENST00000561546.1_Silent_p.P71P|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000549114.1_Silent_p.P71P|NARFL_ENST00000562862.1_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	71							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGTCCCGGGCTGGCGG	0.781													c|||	2240	0.447284	0.3434	0.4784	5008	,	,		5375	0.7579		0.2396	False		,,,				2504	0.4591				p.P71P	Pancreas(46;538 1326 12403 32360)	Atlas-SNP	.											.	HAGHL	18	.	0			c.C213G						PASS	.						1	1	1					16																	778158		455	1002	1457	SO:0001819	synonymous_variant	84264	exon3			TCGTCCCGGGCTG	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"hydroxyacyl glutathione hydrolase-like"			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.213C>G	16.37:g.778158C>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_032304	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Silent	SNP	ENST00000341413.4	37																																																																																				C|0.556;G|0.444	0.444	strong		0.781	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		G	778158	C	G	778158	2	3	5	1	0	0	0	0	0	0	0	1	6946	639	23	4		4	HAGHL	16	778158	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		778158	89576595	75	1186										
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		Atlas-SNP	.											.	EME2	40	.	0			c.C216G						PASS	.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_001257370	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385	0.385	strong		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	5	1	0	0	0	0	0	0	0	1	5089	842	30	4		4	EME2	16	1823444	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	1045286	1823444	88531309	76	1187										
CD79B	974	hgsc.bcm.edu	37	chr17	62006798	62006798	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ctgcccctctccttacctcgTaggtgtgatcttcctccatg	7	16	2	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr17:62006798T>A	ENST00000006750.3	-	5	679	c.587A>T	c.(586-588)tAc>tTc	p.Y196F	CD79B_ENST00000349817.2_Missense_Mutation_p.Y92F|CD79B_ENST00000392795.3_Missense_Mutation_p.Y197F	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	196	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y196C(1)|p.Y196F(1)|p.Y196S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CCTTACCTCGTAGGTGTGATC	0.632			"Mis, O"		DLBCL																																p.Y197F		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,lymphoid_neoplasm,-1,13	CD79B	38	13	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.A590T						PASS	.						93	74	81					17																	62006798		2203	4300	6503	SO:0001583	missense	974	exon5			ACCTCGTAGGTGT	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.587A>T	17.37:g.62006798T>A	ENSP00000006750:p.Tyr196Phe	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_001039933	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930227	0.52866	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	D;D;D	0.96587	-4.06;-4.06;-4.06	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.95601	0.8570	N	0.24115	0.695	0.43426	D	0.995588	D;D	0.76494	0.996;0.999	D;D	0.85130	0.986;0.997	D	0.95387	0.8478	10	0.87932	D	0	-12.4743	9.5968	0.39578	0.0:0.0:0.0:1.0	.	92;196	P40259-2;P40259	.;CD79B_HUMAN	F	92;197;196	ENSP00000245862:Y92F;ENSP00000376544:Y197F;ENSP00000006750:Y196F	ENSP00000006750:Y196F	Y	-	2	0	CD79B	59360530	0.997000	0.39634	0.977000	0.42913	0.245000	0.25701	3.902000	0.56310	1.782000	0.52362	0.358000	0.22013	TAC	.	.	none		0.632	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			A	62006798	T	A	62006798	3	1	5	1	0	0	0	0	1	0	0	0	3037	1638	57	5	110	5	CD79B	17	62006798	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10		62006798	19188412	77	1188										
MRPS7	51081	hgsc.bcm.edu	37	chr17	73261814	73261814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	cctacccgaccggcgtcgccGcttcctagccatgaagtgga	11	16	0	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr17:73261814G>A	ENST00000245539.6	+	5	766	c.539G>A	c.(538-540)cGc>cAc	p.R180H	MRPS7_ENST00000579002.1_Missense_Mutation_p.R209H	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	180					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CGGCGTCGCCGCTTCCTAGCC	0.597																																					p.R180H		Atlas-SNP	.											MRPS7,colon,carcinoma,0,1	MRPS7	19	1	0			c.G539A						scavenged	.						58	56	57					17																	73261814		2203	4300	6503	SO:0001583	missense	51081	exon5			GTCGCCGCTTCCT	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.539G>A	17.37:g.73261814G>A	ENSP00000245539:p.Arg180His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	59	2	0.0338983	NM_015971	B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412510	0.62511	.	.	ENSG00000125445	ENST00000245539	T	0.50813	0.73	6.07	5.1	0.69264	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.64404	1.975	0.80722	D	1	B	0.26120	0.142	B	0.24155	0.051	T	0.43261	-0.9402	10	0.46703	T	0.11	-14.9933	15.8057	0.78506	0.0659:0.0:0.9341:0.0	.	180	Q9Y2R9	RT07_HUMAN	H	180	ENSP00000245539:R180H	ENSP00000245539:R180H	R	+	2	0	MRPS7	70773409	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.013000	0.88655	2.885000	0.99019	0.655000	0.94253	CGC	.	.	none		0.597	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		A	73261814	G	A	73261814	3	1	5	1	0	0	0	0	1	0	0	0	9848	1087	38	1	557	1	MRPS7	17	73261814	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	11255016	73261814	7933396	78	1189										
NOTUM	147111	hgsc.bcm.edu	37	chr17	79912130	79912130	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tgcccggagcagggacactgAcctccggatgatgatctcat	12	12	1	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr17:79912130A>G	ENST00000409678.3	-	10	1568		c.e10+1			NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)							extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGGACACTGACCTCCGGATG	0.607																																					.		Atlas-SNP	.											.	NOTUM	50	.	0			c.1184+2T>C						PASS	.						80	70	73					17																	79912130		2203	4300	6503	SO:0001630	splice_region_variant	147111	exon11			ACACTGACCTCCG	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1184+1T>C	17.37:g.79912130A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_178493	Q8N410|Q8NI82	Splice_Site	SNP	ENST00000409678.3	37	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302227	0.81136	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3587	0.66754	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTUM	77505420	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.222000	0.89777	1.985000	0.57927	0.533000	0.62120	.	.	.	none		0.607	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493	Intron	G	79912130	A	G	79912130	5	3	5	1	0	0	0	0	0	0	1	0	10552	289	10	2	312	2	NOTUM	17	79912130	Splice_Site	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	6650316	79912130	1283080	79	1190										
STK11	6794	hgsc.bcm.edu	37	chr19	1220490	1220490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcaccctcaaaatctccgacCtgggcgtggccgaggtaggc	13	14	2	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:1220490C>T	ENST00000326873.7	+	4	1756	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCTCCGACCTGGGCGTGGC	0.687		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.L195L		Atlas-SNP	.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	STK11,NS,carcinoma,0,1	STK11	410	1	27	Whole gene deletion(20)|Deletion - Frameshift(4)|Unknown(3)	cervix(14)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	c.C583T						PASS	.						35	40	38					19																	1220490		2011	4156	6167	SO:0001819	synonymous_variant	6794	exon4	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	TCCGACCTGGGCG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.583C>T	19.37:g.1220490C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	10	0.147059	NM_000455	B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																			.	.	none		0.687	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1220490	C	T	1220490	2	4	5	1	0	0	0	0	0	0	0	1	15286	680	24	2		2	STK11	19	1220490	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		1220490	57908493	80	1191										
DAZAP1	26528	hgsc.bcm.edu	37	chr19	1434903	1434903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	tgcaagggttccacccctacCgacgctagcccgcggcgccg	12	18	0	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:1434903C>T	ENST00000233078.4	+	12	1377	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	406					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCCCTACCGACGCTAGCC	0.672																																					p.R406X		Atlas-SNP	.											.	DAZAP1	52	.	0			c.C1216T						PASS	.						9	10	10					19																	1434903		2140	4189	6329	SO:0001587	stop_gained	26528	exon12			CCCTACCGACGCT		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1216C>T	19.37:g.1434903C>T	ENSP00000233078:p.Arg406*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_018959	Q96MJ3|Q9NRR9	Nonsense_Mutation	SNP	ENST00000233078.4	37	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	C	38	6.709031	0.97780	.	.	ENSG00000071626	ENST00000233078	.	.	.	5.26	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8945	0.58091	0.4422:0.5578:0.0:0.0	.	.	.	.	X	406	.	ENSP00000233078:R406X	R	+	1	2	DAZAP1	1385903	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.926000	0.40084	1.186000	0.42985	0.561000	0.74099	CGA	.	.	none		0.672	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		T	1434903	C	T	1434903	4	4	5	1	0	0	0	0	0	1	0	0	4244	644	23	1	1355	1	DAZAP1	19	1434903	Nonsense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	214413	1434903	57694080	81	1192										
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4217956	4217956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ctggagctgcggggccgggcAgccagtctggagcaggaggt	20	10	1	0	rs6510794	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000318934.4_Silent_p.A933A|ANKRD24_ENST00000262970.5_Silent_p.A1023A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		Atlas-SNP	.											ANKRD24_ENST00000318934,NS,carcinoma,0,2	ANKRD24	180	2	0			c.A2799G						scavenged	.	G		1357,2019		337,683,668	3	6	5		2799	0.3	1	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	20	13	0.65	NM_133475	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.540;G|0.460	0.460	strong		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4217956	A	G	4217956	2	3	5	1	0	0	0	0	0	0	0	1	653	175	7	3		3	ANKRD24	19	4217956	Silent	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	2783053	4217956	54911027	82	1193										
PSG8	440533	hgsc.bcm.edu	37	chr19	43268286	43268286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	aatggtagaggtccctgattTgccctttgtaccagatgtag	11	8	0	3			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:43268286T>C	ENST00000306511.4	-	2	309	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	PSG8_ENST00000401467.2_Missense_Mutation_p.Q71R|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.Q71R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	71	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTCCCTGATTTGCCCTTTGTA	0.413																																					p.Q71R		Atlas-SNP	.											.	PSG8	101	.	0			c.A212G						PASS	.						174	186	182					19																	43268286		2203	4292	6495	SO:0001583	missense	440533	exon2			CTGATTTGCCCTT	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.212A>G	19.37:g.43268286T>C	ENSP00000305005:p.Gln71Arg	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	155	18	0.116129	NM_001130167	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	t	5.359	0.251452	0.10130	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.01484	4.84;4.84;4.84	1.35	0.162	0.14981	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03434	0.0099	M	0.80422	2.495	0.09310	N	1	B;B;P;B;B	0.39044	0.003;0.001;0.656;0.002;0.003	B;B;B;B;B	0.40982	0.008;0.01;0.345;0.005;0.008	T	0.29610	-1.0006	9	0.52906	T	0.07	.	4.2604	0.10739	0.0:0.0:0.3569:0.6431	.	71;71;71;71;71	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	R	71	ENSP00000385869:Q71R;ENSP00000386090:Q71R;ENSP00000305005:Q71R	ENSP00000305005:Q71R	Q	-	2	0	PSG8	47960126	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.899000	0.04101	-0.017000	0.14103	0.155000	0.16302	CAA	.	.	none		0.413	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			C	43268286	T	C	43268286	3	2	5	1	0	0	0	0	1	0	0	0	12661	1812	63	2	1105	2	PSG8	19	43268286	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	39050330	43268286	15860697	83	1194										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44892266	44892266	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ttgtttttaatcccgtctccTaggagaagaaagagaatttg	9	6	1	3	rs200167944		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																					.		Atlas-SNP	.											ZNF285,colon,carcinoma,0,1	ZNF285	86	1	0			c.143-2A>G						scavenged	.						50	54	53					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	26974	exon5			GTCTCCTAGGAGA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C		Somatic	108	2	0.0185185		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	.	.	weak		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	Intron	C	44892266	T	C	44892266	5	2	5	1	0	0	0	0	0	0	1	0	17819	1536	53	3	1635	3	ZNF285	19	44892266	Splice_Site	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	1623980	44892266	14236717	84	1195										
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ggcggagctggcgcggcggcAgaggcggcggcaggcgcggc	24	12	0	1	rs1804994	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	Atlas-SNP	.											GLTSCR2,brain,glioma,0,4	GLTSCR2	45	4	0			c.A1166G						scavenged	.						1	2	1					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	Somatic	5	1	0.2		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_015710	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692	0.692	strong		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		G	48258717	A	G	48258717	3	3	5	1	0	0	0	0	1	0	0	0	6475	188	7	3	1200	3	GLTSCR2	19	48258717	Missense_Mutation	SNP	A	TCGA-FA-A6HO-01A-11D-A31X-10	3366451	48258717	10870266	85	1196										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385714	58385714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	ccacattcataatgttttttTtcagtgtgaactctctgatg	6	8	3	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr19:58385714T>G	ENST00000435989.2	-	3	1278	c.1044A>C	c.(1042-1044)gaA>gaC	p.E348D	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	348					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTTTCAGTGTGAA	0.368																																					p.E348D		Atlas-SNP	.											ZNF814,NS,carcinoma,0,2	ZNF814	93	2	0			c.A1044C						scavenged	.						192	147	160					19																	58385714		692	1591	2283	SO:0001583	missense	730051	exon3			TTTTTTTTCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1044A>C	19.37:g.58385714T>G	ENSP00000410545:p.Glu348Asp	Somatic	232	2	0.00862069		WXS	Illumina HiSeq	Phase_I	203	4	0.0197044	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	13.49	2.252737	0.39797	.	.	ENSG00000204514	ENST00000435989	T	0.18502	2.21	2.01	0.932	0.19466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.13371	0.34	0.19775	N	0.999954	B	0.15473	0.013	B	0.13407	0.009	T	0.30650	-0.9971	9	0.66056	D	0.02	.	5.8021	0.18420	0.0:0.152:0.0:0.848	.	348	B7Z6K7	ZN814_HUMAN	D	348	ENSP00000410545:E348D	ENSP00000410545:E348D	E	-	3	2	ZNF814	63077526	0.000000	0.05858	0.013000	0.15412	0.381000	0.30169	-0.928000	0.03980	0.089000	0.17243	0.113000	0.15668	GAA	.	.	none		0.368	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385714	T	G	58385714	3	3	5	1	0	0	0	0	1	0	0	0	18173	1838	64	5	1527	5	ZNF814	19	58385714	Missense_Mutation	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10	10126997	58385714	743269	86	1197										
KCNQ2	3785	hgsc.bcm.edu	37	chr20	62038381	62038381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	agcgaccgctcgtgggcaggCggcggcgggatgcgcaccag	19	13	0	0	rs139587368	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr20:62038381C>T	ENST00000359125.2	-	17	2409	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	KCNQ2_ENST00000360480.3_Silent_p.P717P|KCNQ2_ENST00000354587.3_Silent_p.P753P|KCNQ2_ENST00000370224.1_Silent_p.P753P|KCNQ2_ENST00000357249.2_Silent_p.P727P|KCNQ2_ENST00000359689.1_Silent_p.P745P|KCNQ2_ENST00000344462.4_Silent_p.P714P	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	745					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGTGGGCAGGCGGCGGCGGGA	0.771													C|||	115	0.0229633	0.0008	0.0014	5008	,	,		11038	0.1111		0.0	False		,,,				2504	0.001				p.P745P		Atlas-SNP	.											.	KCNQ2	201	.	0			c.G2235A						PASS	.	C	,,,	4,3478		0,4,1737	3	4	4		2151,2181,2235,2142	-10.3	0.1	20	dbSNP_134	4	3,7003		0,3,3500	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ2	NM_004518.4,NM_172106.1,NM_172107.2,NM_172108.3	,,,	0,7,5237	TT,TC,CC		0.0428,0.1149,0.0667	,,,	717/845,727/855,745/873,714/842	62038381	7,10481	1741	3503	5244	SO:0001819	synonymous_variant	3785	exon17			GGCAGGCGGCGGC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2235G>A	20.37:g.62038381C>T		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	15	10	0.666667	NM_172107	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																			C|0.975;T|0.025	0.025	strong		0.771	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62038381	C	T	62038381	2	4	5	1	0	0	0	0	0	0	0	1	8083	755	27	1		1	KCNQ2	20	62038381	Silent	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		62038381	987139	87	1198										
POTED	317754	hgsc.bcm.edu	37	chr21	15011839	15011839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	attaaattttcttctagtgaTgaacaaaatgatacccggaa	6	6	2	3	rs182477426	byFrequency	TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chr21:15011839T>C	ENST00000299443.5	+	10	1465	c.1413T>C	c.(1411-1413)gaT>gaC	p.D471D		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	471						plasma membrane (GO:0005886)		p.D471D(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CTTCTAGTGATGAACAAAATG	0.363													N|||	1402	0.279952	0.2632	0.1455	5008	,	,		3613	0.5258		0.2266	False		,,,				2504	0.1994				p.D471D		Atlas-SNP	.											POTED,NS,carcinoma,0,1	POTED	57	1	1	Substitution - coding silent(1)	stomach(1)	c.T1413C						scavenged	.						17	22	21					21																	15011839		824	3044	3868	SO:0001819	synonymous_variant	317754	exon10			TAGTGATGAACAA	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1413T>C	21.37:g.15011839T>C		Somatic	230	2	0.00869565		WXS	Illumina HiSeq	Phase_I	154	5	0.0324675	NM_174981	C9JCF7	Silent	SNP	ENST00000299443.5	37	CCDS13562.1																																																																																			T|0.500;C|0.500	0.500	weak		0.363	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		C	15011839	T	C	15011839	2	2	5	1	0	0	0	0	0	0	0	1	12263	1461	51	2		2	POTED	21	15011839	Silent	SNP	T	TCGA-FA-A6HO-01A-11D-A31X-10		15011839	33118056	88	1199										
NR0B1	190	hgsc.bcm.edu	37	chrX	30327153	30327153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcccaccccgggatcagagcCgcacgaacagccccagcacg	11	19	1	1			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chrX:30327153C>T	ENST00000378970.4	-	1	562	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	NR0B1_ENST00000453287.1_Missense_Mutation_p.G110S|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	110	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGATCAGAGCCGCACGAACAG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G110S		Atlas-SNP	.											.	NR0B1	61	.	0			c.G328A						PASS	.						22	25	24					X																	30327153		2197	4287	6484	SO:0001583	missense	190	exon1			CAGAGCCGCACGA	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.328G>A	X.37:g.30327153C>T	ENSP00000368253:p.Gly110Ser	Somatic	134	0	0	816	WXS	Illumina HiSeq	Phase_I	141	10	0.070922	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612239	0.28712	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97404	-3.49;-4.37	4.42	3.54	0.40534	.	0.173259	0.28109	N	0.016578	D	0.94660	0.8278	L	0.55743	1.74	0.31729	N	0.637317	P	0.46621	0.881	B	0.41860	0.368	D	0.93333	0.6703	10	0.46703	T	0.11	-9.6228	9.3873	0.38352	0.0:0.8933:0.0:0.1067	.	110	P51843	NR0B1_HUMAN	S	110	ENSP00000368253:G110S;ENSP00000396403:G110S	ENSP00000368253:G110S	G	-	1	0	NR0B1	30237074	0.999000	0.42202	0.832000	0.32986	0.238000	0.25445	1.241000	0.32743	0.957000	0.37930	0.513000	0.50165	GGC	.	.	none		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		T	30327153	C	T	30327153	3	4	5	1	0	0	0	0	1	0	0	0	10613	652	23	1	1092	1	NR0B1	23	30327153	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10		30327153	124943407	89	1200										
SYTL5	94122	hgsc.bcm.edu	37	chrX	37965974	37965974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gggctgtacatttttgtcaaGaattgcagaaatctggccat	10	7	2	2			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chrX:37965974G>T	ENST00000357972.5	+	11	1830	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	SYTL5_ENST00000456733.2_Missense_Mutation_p.K450N|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.K428N			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	428	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTTTGTCAAGAATTGCAGAA	0.428																																					p.K450N		Atlas-SNP	.											.	SYTL5	72	.	0			c.G1350T						PASS	.						138	111	120					X																	37965974		2202	4300	6502	SO:0001583	missense	94122	exon11			TGTCAAGAATTGC		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1284G>T	X.37:g.37965974G>T	ENSP00000350657:p.Lys428Asn	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	194	33	0.170103	NM_001163334	A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699815	0.68501	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.70045	-0.45;-0.45;-0.45	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050650	0.85682	D	0.000000	T	0.80502	0.4635	M	0.81497	2.545	0.41478	D	0.988146	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.78453	-0.2198	10	0.21014	T	0.42	-19.1341	13.0607	0.59005	0.0784:0.0:0.9216:0.0	.	450;428	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	N	428;428;450	ENSP00000297875:K428N;ENSP00000350657:K428N;ENSP00000395220:K450N	ENSP00000297875:K428N	K	+	3	2	SYTL5	37850918	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.373000	0.44266	2.394000	0.81467	0.594000	0.82650	AAG	.	.	none		0.428	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		T	37965974	G	T	37965974	3	4	5	1	0	0	0	0	1	0	0	0	15483	933	33	4	1392	4	SYTL5	23	37965974	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	7638821	37965974	117304586	90	1201										
RNF128	79589	hgsc.bcm.edu	37	chrX	105970554	105970554	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	aagatccatctggcttatgaGagaggggcgtctggagccgt	15	8	2	3	rs148223909		TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chrX:105970554G>C	ENST00000255499.2	+	1	661	c.411G>C	c.(409-411)gaG>gaC	p.E137D	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	137	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGGCTTATGAGAGAGGGGCGT	0.602																																					p.E137D		Atlas-SNP	.											.	RNF128	74	.	0			c.G411C						PASS	.	G	,ASP/GLU	0,3835		0,0,1632,571	53	49	50		,411	2.4	1	X	dbSNP_134	50	1,6727		0,1,2427,1872	no	intron,missense	RNF128	NM_024539.3,NM_194463.1	,45	0,1,4059,2443	CC,CG,GG,G		0.0149,0.0,0.0095	,benign	,137/429	105970554	1,10562	2203	4300	6503	SO:0001583	missense	79589	exon1			TTATGAGAGAGGG	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.411G>C	X.37:g.105970554G>C	ENSP00000255499:p.Glu137Asp	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	176	50	0.284091	NM_194463	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636379	0.29068	0.0	1.49E-4	ENSG00000133135	ENST00000255499	T	0.07444	3.19	4.29	2.37	0.29283	Protease-associated domain, PA (1);	0.762462	0.12450	N	0.467829	T	0.04770	0.0129	N	0.16368	0.405	0.32627	N	0.522588	B	0.02656	0.0	B	0.08055	0.003	T	0.28522	-1.0041	10	0.22706	T	0.39	.	5.6553	0.17639	0.123:0.1989:0.6781:0.0	.	137	Q8TEB7	RN128_HUMAN	D	137	ENSP00000255499:E137D	ENSP00000255499:E137D	E	+	3	2	RNF128	105857210	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	0.891000	0.28309	0.771000	0.33359	0.600000	0.82982	GAG	G|1.000;C|0.000	0.000	weak		0.602	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		C	105970554	G	C	105970554	3	2	5	1	0	0	0	0	1	0	0	0	13436	933	33	4	823	4	RNF128	23	105970554	Missense_Mutation	SNP	G	TCGA-FA-A6HO-01A-11D-A31X-10	68004580	105970554	49300006	91	1202										
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153039489	153039489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032967032967033	3	1	0.592777777777778	1.94	0.248139534883721	1	1	0	gcccaacccccgcctggcacCcctcagccgcgaggggcctg	12	21	1	0			TCGA-FA-A6HO-01A-11D-A31X-10	TCGA-FA-A6HO-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4663fa5a-53e7-40be-a662-6aaa4e456475	16d8b5be-a00c-43cf-8121-f0c8b5dcc5c2	g.chrX:153039489C>T	ENST00000361971.5	+	20	3569	c.3455C>T	c.(3454-3456)cCc>cTc	p.P1152L	PLXNB3_ENST00000538282.1_Missense_Mutation_p.P762L|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P805L|PLXNB3_ENST00000538966.1_Missense_Mutation_p.P1175L|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1152					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTGGCACCCCTCAGCCGC	0.692																																					p.P1175L		Atlas-SNP	.											.	PLXNB3	208	.	0			c.C3524T						PASS	.						16	17	17					X																	153039489		2174	4240	6414	SO:0001583	missense	5365	exon21			TGGCACCCCTCAG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3455C>T	X.37:g.153039489C>T	ENSP00000355378:p.Pro1152Leu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539525	0.45176	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.69435	5.19;5.16;4.57;-0.4	5.14	5.14	0.70334	.	0.117279	0.56097	D	0.000021	T	0.67581	0.2908	M	0.71036	2.16	0.36580	D	0.873501	B;P;P	0.45768	0.409;0.866;0.668	B;P;B	0.44811	0.168;0.461;0.318	T	0.75755	-0.3206	10	0.46703	T	0.11	.	10.9628	0.47395	0.0:0.8153:0.1847:0.0	.	805;1175;1152	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	L	1175;1152;805;762	ENSP00000442736:P1175L;ENSP00000355378:P1152L;ENSP00000445569:P805L;ENSP00000441919:P762L	ENSP00000355378:P1152L	P	+	2	0	PLXNB3	152692683	0.722000	0.28017	0.054000	0.19295	0.555000	0.35460	1.617000	0.36943	2.125000	0.65367	0.529000	0.55759	CCC	.	.	none		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153039489	C	T	153039489	3	4	5	1	0	0	0	0	1	0	0	0	12125	623	22	2	3647	2	PLXNB3	23	153039489	Missense_Mutation	SNP	C	TCGA-FA-A6HO-01A-11D-A31X-10	47068935	153039489	2231071	92	1203										
KLHL17	339451	hgsc.bcm.edu	37	chr1	898557	898557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgcgcaccgaccgctggcacGtggtggcctccatgtccacg	13	17	0	0	rs201246933		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:898557G>A	ENST00000338591.3	+	7	1218	c.1111G>A	c.(1111-1113)Gtg>Atg	p.V371M		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	371	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGCTGGCACGTGGTGGCCTC	0.701																																					p.V371M		Atlas-SNP	.											.	KLHL17	31	.	0			c.G1111A						PASS	.						35	38	37					1																	898557		2195	4292	6487	SO:0001583	missense	339451	exon7			TGGCACGTGGTGG	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1111G>A	1.37:g.898557G>A	ENSP00000343930:p.Val371Met	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_198317	Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	CCDS30550.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.33	2.204611	0.38905	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	T	0.73789	-0.78	5.52	2.27	0.28462	Galactose oxidase, beta-propeller (1);	0.158567	0.53938	D	0.000052	T	0.49813	0.1579	N	0.11870	0.19	0.39807	D	0.972655	B	0.06786	0.001	B	0.04013	0.001	T	0.29458	-1.0011	10	0.25106	T	0.35	.	5.4008	0.16295	0.5559:0.0:0.4441:0.0	.	371	Q6TDP4	KLH17_HUMAN	M	371;247;94	ENSP00000343930:V371M	ENSP00000343930:V371M	V	+	1	0	KLHL17	888420	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.929000	0.63455	0.711000	0.32018	-0.480000	0.04831	GTG	G|0.999;A|0.001	0.001	strong		0.701	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		A	898557	G	A	898557	3	1	6	1	0	0	0	0	1	0	0	0	8372	1145	40	1	1137	1	KLHL17	1	898557	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		898557	248352064	1	1204										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907513	12907513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tttttcacctctacctcttgTttgctctgttccttttcaat	3	12	5	0	rs201121299		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:12907513T>C	ENST00000317869.6	-	2	855	c.630A>G	c.(628-630)aaA>aaG	p.K210K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	210						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K210N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTACCTCTTGTTTGCTCTGTT	0.448																																					p.K210K		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,0,1	HNRNPCL1	68	1	1	Substitution - Missense(1)	lung(1)	c.A630G						scavenged	.						91	98	96					1																	12907513		2197	4264	6461	SO:0001819	synonymous_variant	343069	exon2			CTCTTGTTTGCTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.630A>G	1.37:g.12907513T>C		Somatic	349	9	0.025788		WXS	Illumina HiSeq	Phase_I	307	4	0.0130293	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			C|1.000;|0.000	1.000	weak		0.448	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907513	T	C	12907513	2	2	6	1	0	0	0	0	0	0	0	1	7263	1722	60	2		2	HNRNPCL1	1	12907513	Silent	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	12008956	12907513	236343108	2	1205										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919098	12919098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	acgcttcatctggagccattGaaagcattgctggaagggct	12	9	2	1	rs2281065		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:12919098G>A	ENST00000240189.2	+	2	321	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	78					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCCATTGAAAGCATTGC	0.567																																					p.L78L		Atlas-SNP	.											PRAMEF2,colon,carcinoma,0,1	PRAMEF2	85	1	0			c.G234A						scavenged	.						168	179	175					1																	12919098		2201	4296	6497	SO:0001819	synonymous_variant	65122	exon2			GCCATTGAAAGCA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.234G>A	1.37:g.12919098G>A		Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	168	5	0.0297619	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			G|1.000;|0.000	.	weak		0.567	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12919098	G	A	12919098	2	1	6	1	0	0	0	0	0	0	0	1	12435	1281	45	2		2	PRAMEF2	1	12919098	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	11585	12919098	236331523	3	1206										
PAQR7	164091	hgsc.bcm.edu	37	chr1	26189430	26189430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cagaggctcatagatgggccGtcgggcctcatagtccagtg	14	11	2	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:26189430G>A	ENST00000374296.3	-	2	1567	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	301					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)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TAGATGGGCCGTCGGGCCTCA	0.597																																					p.R301W	Esophageal Squamous(111;1206 1556 18433 19151 38418)	Atlas-SNP	.											.	PAQR7	23	.	0			c.C901T						PASS	.						60	60	60					1																	26189430		2203	4300	6503	SO:0001583	missense	164091	exon2			TGGGCCGTCGGGC		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.901C>T	1.37:g.26189430G>A	ENSP00000363414:p.Arg301Trp	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	110	47	0.427273	NM_178422	A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	CCDS267.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491875	0.64074	.	.	ENSG00000182749	ENST00000374296	T	0.26810	1.71	5.07	3.16	0.36331	.	0.070365	0.56097	D	0.000026	T	0.39200	0.1069	M	0.62723	1.935	0.49687	D	0.999819	D	0.76494	0.999	P	0.57846	0.828	T	0.19745	-1.0296	10	0.87932	D	0	-16.9133	9.4892	0.38948	0.0:0.1248:0.5385:0.3366	.	301	Q86WK9	MPRA_HUMAN	W	301	ENSP00000363414:R301W	ENSP00000363414:R301W	R	-	1	2	PAQR7	26062017	0.767000	0.28508	0.997000	0.53966	0.992000	0.81027	1.262000	0.32992	0.687000	0.31509	0.563000	0.77884	CGG	.	.	none		0.597	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		A	26189430	G	A	26189430	3	1	6	1	0	0	0	0	1	0	0	0	11440	1144	40	1	143	1	PAQR7	1	26189430	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	13270332	26189430	223061191	4	1207										
YTHDF2	51441	hgsc.bcm.edu	37	chr1	29070284	29070284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ttttgatgtcaggtggatttTtgtgaaggacgttcccaata	11	5	1	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:29070284T>C	ENST00000373812.3	+	4	1864	c.1502T>C	c.(1501-1503)tTt>tCt	p.F501S	YTHDF2_ENST00000542507.1_Missense_Mutation_p.F501S|YTHDF2_ENST00000541996.1_Missense_Mutation_p.F451S|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	501	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGGATTTTTGTGAAGGAC	0.493																																					p.F501S		Atlas-SNP	.											.	YTHDF2	47	.	0			c.T1502C						PASS	.						84	83	84					1																	29070284		1925	4136	6061	SO:0001583	missense	51441	exon4			GGATTTTTGTGAA	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1502T>C	1.37:g.29070284T>C	ENSP00000362918:p.Phe501Ser	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	155	64	0.412903	NM_016258	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140965	0.37825	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.26660	1.72;1.72;1.72	5.93	4.79	0.61399	YTH domain (2);	0.097053	0.64402	D	0.000001	T	0.40694	0.1127	L	0.45352	1.415	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.75020	0.985;0.985	T	0.09015	-1.0694	9	.	.	.	-12.236	12.402	0.55418	0.0:0.0:0.1409:0.8591	.	501;501	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	S	501;501;451;501	ENSP00000444660:F501S;ENSP00000362918:F501S;ENSP00000439394:F451S	.	F	+	2	0	YTHDF2	28942871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.062000	0.71155	1.048000	0.40298	0.523000	0.50628	TTT	.	.	none		0.493	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		C	29070284	T	C	29070284	3	2	6	1	0	0	0	0	1	0	0	0	17496	1841	64	2	1516	2	YTHDF2	1	29070284	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	2880854	29070284	220180337	5	1208										
DLGAP3	58512	hgsc.bcm.edu	37	chr1	35369943	35369943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	caggagccccttgcctggccCggcccccgggtatccatccc	11	20	0	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:35369943C>T	ENST00000373347.1	-	3	1310	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G348R|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	348					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TTGCCTGGCCCGGCCCCCGGG	0.602																																					p.G348R		Atlas-SNP	.											.	DLGAP3	107	.	0			c.G1042A						PASS	.						40	42	41					1																	35369943		2200	4293	6493	SO:0001583	missense	58512	exon1			CTGGCCCGGCCCC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1042G>A	1.37:g.35369943C>T	ENSP00000362444:p.Gly348Arg	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	28	14	0.5	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692621	0.68271	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.26373	1.74;1.74	4.49	4.49	0.54785	.	0.164823	0.53938	D	0.000053	T	0.42854	0.1221	L	0.36672	1.1	0.53005	D	0.999961	D	0.89917	1.0	D	0.83275	0.996	T	0.40175	-0.9577	10	0.72032	D	0.01	-16.0127	17.7338	0.88387	0.0:1.0:0.0:0.0	.	348	O95886	DLGP3_HUMAN	R	348;348;31	ENSP00000362444:G348R;ENSP00000235180:G348R	ENSP00000235180:G348R	G	-	1	0	DLGAP3	35142530	0.997000	0.39634	0.961000	0.40146	0.937000	0.57800	3.622000	0.54217	2.492000	0.84095	0.655000	0.94253	GGG	.	.	none		0.602	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35369943	C	T	35369943	3	4	6	1	0	0	0	0	1	0	0	0	4561	652	23	1	1937	1	DLGAP3	1	35369943	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	6299659	35369943	213880678	6	1209										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120846059	120846059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtcttccttcctgcaacaacGgacacttctggatgtttcac	7	13	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:120846059G>A	ENST00000369390.3	+	3	1124	c.295G>A	c.(295-297)Gga>Aga	p.G99R	FAM72B_ENST00000355228.4_Missense_Mutation_p.G59R|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	99										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCAACAACGGACACTTCTG	0.388																																					p.G99R		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.G295A						scavenged	.						345	316	325					1																	120846059		1870	4114	5984	SO:0001583	missense	653820	exon3			AACAACGGACACT	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.295G>A	1.37:g.120846059G>A	ENSP00000358397:p.Gly99Arg	Somatic	647	3	0.00463679		WXS	Illumina HiSeq	Phase_I	591	7	0.0118443	NM_001100910	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	g	18.03	3.532588	0.64972	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.38401	1.14;1.14;1.14	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.36166	0.0957	M	0.83603	2.65	0.54753	D	0.999989	D;B	0.63880	0.993;0.295	P;B	0.49361	0.608;0.056	T	0.42548	-0.9445	10	0.54805	T	0.06	.	10.8119	0.46551	0.0:0.0:1.0:0.0	.	99;59	Q86X60;Q86X60-2	FA72B_HUMAN;.	R	70;99;70;59	ENSP00000358397:G99R;ENSP00000392882:G70R;ENSP00000347368:G59R	ENSP00000347368:G59R	G	+	1	0	FAM72B	120647582	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.236000	0.78154	1.431000	0.47355	0.398000	0.26397	GGA	.	.	weak		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			A	120846059	G	A	120846059	3	1	6	1	0	0	0	0	1	0	0	0	5615	1117	39	1	305	1	FAM72B	1	120846059	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	85476116	120846059	128404562	7	1210										
FLG	2312	hgsc.bcm.edu	37	chr1	152278049	152278049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	acgaatggtgtcctgaccgtAttgggatgctgagtgcctgg	15	8	0	2	rs2065958	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:152278049A>C	ENST00000368799.1	-	3	9348	c.9313T>G	c.(9313-9315)Tac>Gac	p.Y3105D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3105	Ser-rich.		Y -> D (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCGTATTGGGATGCT	0.597									Ichthyosis				C|||	866	0.172923	0.1589	0.1787	5008	,	,		11687	0.3294		0.0686	False		,,,				2504	0.1339				p.Y3105D		Atlas-SNP	.											FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.T9313G						scavenged	.						207	261	244					1																	152278049		1917	4215	6132	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GACCGTATTGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9313T>G	1.37:g.152278049A>C	ENSP00000357789:p.Tyr3105Asp	Somatic	8	4	0.5		WXS	Illumina HiSeq	Phase_I	6	5	0.833333	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302611	0.10678	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	3.92	-5.83	0.02325	.	.	.	.	.	T	0.00241	0.0007	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	8	0.15066	T	0.55	.	6.4277	0.21778	0.1024:0.2853:0.5231:0.0891	rs41432453	3105	P20930	FILA_HUMAN	D	3105	ENSP00000357789:Y3105D	ENSP00000357789:Y3105D	Y	-	1	0	FLG	150544673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.179000	0.01259	-1.367000	0.02152	-0.383000	0.06682	TAC	A|0.173;C|0.827	0.827	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152278049	A	C	152278049	3	2	6	1	0	0	0	0	1	0	0	0	5922	449	16	5	2876	5	FLG	1	152278049	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	31431990	152278049	96972572	8	1211										
FLG	2312	hgsc.bcm.edu	37	chr1	152279786	152279786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgaccctgagtgcctggagcCgtctcctgattgttcatcgt	11	13	2	2	rs200630144		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:152279786C>T	ENST00000368799.1	-	3	7611	c.7576G>A	c.(7576-7578)Ggc>Agc	p.G2526S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2526	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGGAGCCGTCTCCTGAT	0.602									Ichthyosis																												p.G2526S		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G7576A						scavenged	.						314	306	308					1																	152279786		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGAGCCGTCTCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7576G>A	1.37:g.152279786C>T	ENSP00000357789:p.Gly2526Ser	Somatic	166	2	0.0120482		WXS	Illumina HiSeq	Phase_I	168	5	0.0297619	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467746	0.26335	.	.	ENSG00000143631	ENST00000368799	T	0.00824	5.65	2.49	-0.0536	0.13817	.	.	.	.	.	T	0.00328	0.0010	M	0.68952	2.095	0.09310	N	1	B	0.28760	0.221	B	0.25140	0.058	T	0.47873	-0.9083	9	0.06099	T	0.92	.	4.5427	0.12066	0.0:0.3463:0.0:0.6537	.	2526	P20930	FILA_HUMAN	S	2526	ENSP00000357789:G2526S	ENSP00000357789:G2526S	G	-	1	0	FLG	150546410	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.598000	0.05706	-0.143000	0.11334	0.306000	0.20318	GGC	C|0.999;T|0.001	0.001	weak		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279786	C	T	152279786	3	4	6	1	0	0	0	0	1	0	0	0	5922	652	23	1	4613	1	FLG	1	152279786	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	1737	152279786	96970835	9	1212										
FLG	2312	hgsc.bcm.edu	37	chr1	152285414	152285414	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gccatctcttgactgctcctGagcagatccatgatggtttc	9	12	1	4	rs149119521		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:152285414G>C	ENST00000368799.1	-	3	1983	c.1948C>G	c.(1948-1950)Cag>Gag	p.Q650E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	650	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q650K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCTGAGCAGATCCA	0.557									Ichthyosis																												p.Q650E		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	1	Substitution - Missense(1)	kidney(1)	c.C1948G						scavenged	.						227	236	233					1																	152285414		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTCCTGAGCAGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1948C>G	1.37:g.152285414G>C	ENSP00000357789:p.Gln650Glu	Somatic	306	6	0.0196078		WXS	Illumina HiSeq	Phase_I	298	7	0.0234899	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.853	-0.237885	0.05944	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.15	0.87	0.19102	.	.	.	.	.	T	0.00412	0.0013	L	0.36672	1.1	0.09310	N	1	B	0.30584	0.286	B	0.20184	0.028	T	0.41070	-0.9529	9	0.02654	T	1	.	8.4148	0.32666	0.0:0.481:0.519:0.0	.	650	P20930	FILA_HUMAN	E	650	ENSP00000357789:Q650E	ENSP00000357789:Q650E	Q	-	1	0	FLG	150552038	0.019000	0.18553	0.001000	0.08648	0.001000	0.01503	3.148000	0.50647	0.616000	0.30141	0.650000	0.86243	CAG	G|1.000;A|0.000	.	alt		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152285414	G	C	152285414	3	2	6	1	0	0	0	0	1	0	0	0	5922	1299	45	4	10241	4	FLG	1	152285414	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	5628	152285414	96965207	10	1213										
FCRL5	83416	hgsc.bcm.edu	37	chr1	157516959	157516959	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	actgtggtccatggaggctgGaggaaaataatgggcctggg	17	6	0	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr1:157516959G>A	ENST00000361835.3	-	3	238	c.81C>T	c.(79-81)ctC>ctT	p.L27L	FCRL5_ENST00000368188.2_Silent_p.L27L|FCRL5_ENST00000368190.3_Silent_p.L27L|FCRL5_ENST00000356953.4_Silent_p.L27L|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Silent_p.L27L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	27	Ig-like C2-type 1.				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)				ATGGAGGCTGGAGGAAAATAA	0.537																																					p.L27L		Atlas-SNP	.											FCRL5,mouth,carcinoma,-1,1	FCRL5	177	1	0			c.C81T						PASS	.						119	113	115					1																	157516959		2203	4300	6503	SO:0001819	synonymous_variant	83416	exon3			AGGCTGGAGGAAA	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.81C>T	1.37:g.157516959G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	121	48	0.396694	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																			.	.	none		0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157516959	G	A	157516959	2	1	6	1	0	0	0	0	0	0	0	1	5798	1161	41	2		2	FCRL5	1	157516959	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	5231545	157516959	91733662	11	1214										
ALLC	55821	hgsc.bcm.edu	37	chr2	3745027	3745027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtaataactcgaattgaaatTgacacaaaatattttgaagg	7	4	0	3			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:3745027T>G	ENST00000252505.3	+	10	993	c.831T>G	c.(829-831)atT>atG	p.I277M	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	296					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GAATTGAAATTGACACAAAAT	0.388										HNSCC(21;0.051)																											p.I277M		Atlas-SNP	.											ALLC,rectum,carcinoma,0,1	ALLC	61	1	0			c.T831G						PASS	.						127	122	124					2																	3745027		1836	4088	5924	SO:0001583	missense	55821	exon10			TGAAATTGACACA	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.831T>G	2.37:g.3745027T>G	ENSP00000252505:p.Ile277Met	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	T	5.479	0.273460	0.10403	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.47	-10.9	0.00192	Allantoicase domain (1);Galactose-binding domain-like (1);	0.502623	0.22475	N	0.059570	T	0.35128	0.0921	M	0.82323	2.585	0.24126	N	0.995782	P	0.37548	0.599	B	0.39503	0.301	T	0.41270	-0.9518	9	0.87932	D	0	-5.9914	5.0435	0.14471	0.2651:0.4858:0.1398:0.1093	.	296	Q8N6M5	ALLC_HUMAN	M	277	.	ENSP00000252505:I277M	I	+	3	3	ALLC	3722902	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-3.876000	0.00344	-3.622000	0.00131	-1.381000	0.01174	ATT	.	.	none		0.388	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			G	3745027	T	G	3745027	3	3	6	1	0	0	0	0	1	0	0	0	534	1800	63	5	865	5	ALLC	2	3745027	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		3745027	239454346	12	1215										
CCDC74A	90557	hgsc.bcm.edu	37	chr2	132290242	132290242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gggcaggcagatgggggcggGggcacaccccccaatgatcc	17	13	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:132290242G>C	ENST00000295171.6	+	5	902	c.764G>C	c.(763-765)gGg>gCg	p.G255A	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G189A|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	255								p.G255A(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGGGGCGGGGGCACACCCC	0.597																																					p.G255A		Atlas-SNP	.											CCDC74A,NS,carcinoma,0,1	CCDC74A	44	1	1	Substitution - Missense(1)	endometrium(1)	c.G764C						scavenged	.						109	113	111					2																	132290242		2203	4300	6503	SO:0001583	missense	90557	exon5			GGGCGGGGGCACA		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.764G>C	2.37:g.132290242G>C	ENSP00000295171:p.Gly255Ala	Somatic	257	4	0.0155642		WXS	Illumina HiSeq	Phase_I	222	7	0.0315315	NM_138770	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.541194	0.27563	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.32272	1.52;1.46	2.34	1.42	0.22433	.	0.261145	0.19502	U	0.112715	T	0.30978	0.0782	L	0.59436	1.845	0.19300	N	0.999975	P;D	0.57899	0.928;0.981	P;B	0.51487	0.671;0.403	T	0.18681	-1.0329	10	0.13108	T	0.6	.	5.2496	0.15515	0.191:0.0:0.809:0.0	.	189;255	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	A	255;189	ENSP00000295171:G255A;ENSP00000387009:G189A	ENSP00000295171:G255A	G	+	2	0	CCDC74A	132006712	0.489000	0.26004	0.005000	0.12908	0.013000	0.08279	1.420000	0.34804	0.092000	0.17331	0.194000	0.17425	GGG	.	.	weak		0.597	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290242	G	C	132290242	3	2	6	1	0	0	0	0	1	0	0	0	2847	1232	43	4	782	4	CCDC74A	2	132290242	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	128545215	132290242	110909131	13	1216										
NEB	4703	hgsc.bcm.edu	37	chr2	152432838	152432838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gggcatccagccaatgccacGcaaccactccaagtcagcct	8	17	1	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:152432838G>A	ENST00000172853.10	-	78	11779	c.11632C>T	c.(11632-11634)Cgt>Tgt	p.R3878C	NEB_ENST00000604864.1_Missense_Mutation_p.R5579C|NEB_ENST00000397345.3_Missense_Mutation_p.R5579C|NEB_ENST00000427231.2_Missense_Mutation_p.R5579C|NEB_ENST00000603639.1_Missense_Mutation_p.R5579C|NEB_ENST00000409198.1_Missense_Mutation_p.R3878C			P20929	NEBU_HUMAN	nebulin	3878					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAATGCCACGCAACCACTCC	0.473																																					p.R5579C		Atlas-SNP	.											NEB_ENST00000427231,NS,carcinoma,+1,3	NEB	1697	3	0			c.C16735T						PASS	.						97	101	100					2																	152432838		1918	4134	6052	SO:0001583	missense	4703	exon106			TGCCACGCAACCA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11632C>T	2.37:g.152432838G>A	ENSP00000172853:p.Arg3878Cys	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	163	63	0.386503	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.553342	0.86127	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	6.03	6.03	0.97812	.	0.048446	0.85682	D	0.000000	T	0.70894	0.3276	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71213	-0.4659	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	3878;309	P20929;Q14215	NEBU_HUMAN;.	C	3878;5579;5579;309;3878	ENSP00000386259:R3878C;ENSP00000380505:R5579C;ENSP00000416578:R5579C;ENSP00000410961:R309C;ENSP00000172853:R3878C	ENSP00000172853:R3878C	R	-	1	0	NEB	152141084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.030000	0.57260	2.854000	0.98071	0.655000	0.94253	CGT	.	.	none		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152432838	G	A	152432838	3	1	6	1	0	0	0	0	1	0	0	0	10302	1087	38	1	9259	1	NEB	2	152432838	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	20142596	152432838	90766535	14	1217										
ITGA6	3655	hgsc.bcm.edu	37	chr2	173368882	173368882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gataccatgctgtaaggatcCggaaagaagagcgagagatc	13	7	0	3	rs370676535		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:173368882C>T	ENST00000264106.6	+	26	3498	c.3295C>T	c.(3295-3297)Cgg>Tgg	p.R1099W	AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000409532.1_3'UTR|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409080.1_Missense_Mutation_p.R1060W|ITGA6_ENST00000375221.2_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1099					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGTAAGGATCCGGAAAGAAGA	0.388																																					p.R1060W		Atlas-SNP	.											.	ITGA6	171	.	0			c.C3178T						PASS	.	C	,TRP/ARG	0,3728		0,0,1864	57	53	54		,3178	5.9	1	2		54	1,8205		0,1,4102	no	utr-3,missense	ITGA6	NM_000210.2,NM_001079818.1	,101	0,1,5966	TT,TC,CC		0.0122,0.0,0.0084	,probably-damaging	,1060/1092	173368882	1,11933	1864	4103	5967	SO:0001583	missense	3655	exon25			AGGATCCGGAAAG		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3295C>T	2.37:g.173368882C>T	ENSP00000264106:p.Arg1099Trp	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	181	76	0.41989	NM_001079818	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.372286	0.82573	0.0	1.22E-4	ENSG00000091409	ENST00000264106;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.87	5.87	0.94306	.	0.456524	0.24256	N	0.040127	T	0.36771	0.0979	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.55965	0.788	T	0.03394	-1.1041	10	0.66056	D	0.02	.	13.4186	0.60982	0.0:0.9286:0.0:0.0714	.	1060	G5E9H1	.	W	1099;1060;1099;1055;227	ENSP00000264106:R1099W;ENSP00000386896:R1060W;ENSP00000406694:R1099W;ENSP00000394169:R1055W;ENSP00000388435:R227W	ENSP00000264106:R1099W	R	+	1	2	ITGA6	173077128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.754000	0.62191	2.785000	0.95823	0.655000	0.94253	CGG	.	.	weak		0.388	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				T	173368882	C	T	173368882	3	4	6	1	0	0	0	0	1	0	0	0	7880	643	23	1	3388	1	ITGA6	2	173368882	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	20936044	173368882	69830491	15	1218										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	211	7	0.0331754	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	6	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	24994652	198363534	44835839	16	1219										
ERBB4	2066	hgsc.bcm.edu	37	chr2	212522545	212522545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tgcagtcatgactagtgggaCcgttacacctgcaggcaatt	11	10	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr2:212522545C>G	ENST00000342788.4	-	16	2190	c.1880G>C	c.(1879-1881)gGt>gCt	p.G627A	ERBB4_ENST00000436443.1_Missense_Mutation_p.G627A|ERBB4_ENST00000402597.1_Intron	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	627	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACTAGTGGGACCGTTACACCT	0.473										TSP Lung(8;0.080)																											p.G627A		Atlas-SNP	.											ERBB4,NS,malignant_melanoma,0,1	ERBB4	480	1	0			c.G1880C						PASS	.						284	216	239					2																	212522545		2203	4300	6503	SO:0001583	missense	2066	exon16			GTGGGACCGTTAC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1880G>C	2.37:g.212522545C>G	ENSP00000342235:p.Gly627Ala	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	73	39	0.534247	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856348	0.51376	.	.	ENSG00000178568	ENST00000342788;ENST00000436443	D;D	0.87412	-2.25;-2.25	5.14	5.14	0.70334	Growth factor, receptor (1);	0.099233	0.64402	D	0.000001	D	0.87661	0.6233	M	0.77486	2.375	0.80722	D	1	B;P;P	0.51057	0.167;0.941;0.902	B;P;B	0.44447	0.076;0.45;0.263	D	0.88473	0.3063	10	0.52906	T	0.07	.	12.3529	0.55159	0.0:0.9224:0.0:0.0776	.	486;627;627	Q53QS8;Q15303-3;Q15303	.;.;ERBB4_HUMAN	A	627	ENSP00000342235:G627A;ENSP00000403204:G627A	ENSP00000342235:G627A	G	-	2	0	ERBB4	212230790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.010000	0.49559	2.557000	0.86248	0.650000	0.86243	GGT	.	.	none		0.473	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		G	212522545	C	G	212522545	3	3	6	1	0	0	0	0	1	0	0	0	5209	507	18	4	2098	4	ERBB4	2	212522545	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	14159011	212522545	30676828	17	1220										
MYD88	4615	hgsc.bcm.edu	37	chr3	38182641	38182641	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aggtgcccatcagaagcgacTgatccccatcaagtacaagg	10	12	2	2	rs387907272		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr3:38182641T>C	ENST00000495303.1	+	3	483	c.478T>C	c.(478-480)Tga>Cga	p.*160R	MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000424893.1_Missense_Mutation_p.L220P|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.L265P(188)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAAGCGACTGATCCCCATC	0.552			Mis		ABC-DLBCL								T|||	1	0.000199681	0.0	0.0	5008	,	,		22034	0.0		0.001	False		,,,				2504	0.0				p.X205R		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	MYD88,NS,lymphoid_neoplasm,0,828	MYD88	900	828	188	Substitution - Missense(188)	haematopoietic_and_lymphoid_tissue(188)	c.T613C						PASS	.						148	119	129					3																	38182641		2203	4300	6503	SO:0001578	stop_lost	4615	exon4			AGCGACTGATCCC	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.478T>C	3.37:g.38182641T>C	ENSP00000417848:p.*160Argext*8	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	37	29	0.783784	NM_001172569	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.710754|3.710754	0.68730|0.68730	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.15487|.	2.42;2.42;2.42;2.42|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71676|.	0.3368|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.70626|.	-0.4820|.	9|.	0.87932|.	D|.	0|.	-17.9268|-17.9268	15.535|15.535	0.75996|0.75996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207;252;241|.	Q99836-2;Q99836;B4E3D6|.	.;MYD88_HUMAN;.|.	P|R	273;265;220;272;241|160;205	ENSP00000401399:L273P;ENSP00000379625:L265P;ENSP00000389979:L220P;ENSP00000391753:L272P|.	ENSP00000379625:L265P|.	L|X	+|+	2|1	0|0	MYD88|MYD88	38157645|38157645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.639000|7.639000	0.83342|0.83342	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CTG|TGA	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		C	38182641	T	C	38182641	4	2	6	1	0	0	0	0	0	0	0	0	10023	1593	55	3	836	3	MYD88	3	38182641	Nonstop_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		38182641	159839789	18	1221										
MST1	327	hgsc.bcm.edu	37	chr3	49723379	49723379	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtgccgcggtactgctccccTgcgccgtggtagcagtctgt	14	14	1	0	rs4052580		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr3:49723379T>C	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Silent_p.A388A|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTGCTCCCCTGCGCCGTGGT	0.711																																					p.A388A		Atlas-SNP	.											MST1,rectum,carcinoma,0,2	MST1	84	2	0			c.A1164G						scavenged	.						14	16	15					3																	49723379		2180	4265	6445	SO:0001628	intergenic_variant	4485	exon10			CTCCCCTGCGCCG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723379T>C		Somatic	55	6	0.109091		WXS	Illumina HiSeq	Phase_I	72	12	0.166667	NM_020998	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			T|1.000;|0.000	.	weak		0.711	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49723379	T	C	49723379	1	2	6	0	1	0	0	0	0	0	0	0	9890	1567	55	3		3	MST1	3	49723379	IGR	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	11540738	49723379	148299051	19	1222										
MST1	63891	hgsc.bcm.edu	37	chr3	49724183	49724183	+	5'Flank	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agtgtagcaccatggccgctCggagccgtcaggattccggc	14	13	1	0	rs201944579		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr3:49724183C>G	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_3'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.E261Q|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.E186Q|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGGCCGCTCGGAGCCGTCA	0.632																																					p.E261Q		Atlas-SNP	.											MST1,NS,carcinoma,+2,1	MST1	84	1	0			c.G781C						scavenged	.																																			SO:0001631	upstream_gene_variant	4485	exon7			GCCGCTCGGAGCC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724183C>G	Exception_encountered	Somatic	99	15	0.151515		WXS	Illumina HiSeq	Phase_I	90	18	0.2	NM_020998	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659733	0.67586	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.68025	-0.3;-0.3	5.75	5.75	0.90469	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.531760	0.14958	N	0.288530	T	0.74382	0.3709	L	0.55834	1.745	0.80722	D	1	P;P	0.38395	0.629;0.575	P;B	0.48488	0.579;0.443	T	0.68842	-0.5302	10	0.33940	T	0.23	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	247;261	P26927;G3XAK1	HGFL_HUMAN;.	Q	261;186	ENSP00000414287:E261Q;ENSP00000373234:E186Q	ENSP00000373234:E186Q	E	-	1	0	MST1	49699187	1.000000	0.71417	0.857000	0.33713	0.976000	0.68499	4.664000	0.61540	2.725000	0.93324	0.655000	0.94253	GAG	C|0.500;G|0.500	0.500	strong		0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		G	49724183	C	G	49724183	1	3	6	0	1	0	0	0	0	0	0	0	9890	893	31	4		4	MST1	3	49724183	5'Flank	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	804	49724183	148298247	20	1223										
PFN2	5217	hgsc.bcm.edu	37	chr3	149686158	149686158	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tactcacctctaccagctctGccgacagccacattgtatgt	6	15	3	0	rs17851600		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr3:149686158G>C	ENST00000239940.7	-	2	564	c.312C>G	c.(310-312)ggC>ggG	p.G104G	PFN2_ENST00000461868.1_Silent_p.G104G|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000498307.1_Silent_p.G55G|PFN2_ENST00000452853.2_Silent_p.G104G|PFN2_ENST00000489155.1_Silent_p.G55G|PFN2_ENST00000481767.1_Silent_p.G55G|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000490975.1_Intron|PFN2_ENST00000481275.1_Silent_p.G55G|PFN2_ENST00000423691.2_Silent_p.G104G|PFN2_ENST00000494827.1_Silent_p.G55G|PFN2_ENST00000497148.1_Silent_p.G55G|PFN2_ENST00000475518.1_Silent_p.G55G			P35080	PROF2_HUMAN	profilin 2	104					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TACCAGCTCTGCCGACAGCCA	0.423																																					p.G104G		Atlas-SNP	.											PFN2,NS,carcinoma,-2,1	PFN2	23	1	0			c.C312G						scavenged	.						203	207	206					3																	149686158		2203	4300	6503	SO:0001819	synonymous_variant	5217	exon2			AGCTCTGCCGACA	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.312C>G	3.37:g.149686158G>C		Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	115	4	0.0347826	NM_053024	B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Silent	SNP	ENST00000239940.7	37	CCDS3148.1																																																																																			.	.	alt		0.423	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		C	149686158	G	C	149686158	2	2	6	1	0	0	0	0	0	0	0	1	11768	1306	46	4		4	PFN2	3	149686158	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	99961975	149686158	48336272	21	1224										
FAT4	79633	hgsc.bcm.edu	37	chr4	126370300	126370300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agattatgaaattgttaatgGcaacatggaaaatagtttca	8	3	1	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr4:126370300G>A	ENST00000394329.3	+	9	8142	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	FAT4_ENST00000335110.5_Missense_Mutation_p.G1008D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2710	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTGTTAATGGCAACATGGAA	0.373																																					p.G2710D		Atlas-SNP	.											.	FAT4	1752	.	0			c.G8129A						PASS	.						103	102	103					4																	126370300		2203	4299	6502	SO:0001583	missense	79633	exon9			TTAATGGCAACAT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8129G>A	4.37:g.126370300G>A	ENSP00000377862:p.Gly2710Asp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	81	25	0.308642	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584637	0.65992	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.9	5.9	0.94986	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	T	0.08268	0.0206	L	0.49513	1.565	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.49331	-0.8951	10	0.22706	T	0.39	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1008;2710;2710	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	2710;1008	ENSP00000377862:G2710D;ENSP00000335169:G1008D	ENSP00000335169:G1008D	G	+	2	0	FAT4	126589750	1.000000	0.71417	0.960000	0.40013	0.495000	0.33615	9.666000	0.98612	2.788000	0.95919	0.650000	0.86243	GGC	.	.	none		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126370300	G	A	126370300	3	1	6	1	0	0	0	0	1	0	0	0	5692	1203	42	2	8163	2	FAT4	4	126370300	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		126370300	64783976	22	1225										
NKD2	85409	hgsc.bcm.edu	37	chr5	1036421	1036421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cggagcgggggccctactgcGtggacgagaacacggagcgc	18	12	0	1	rs376557535		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:1036421G>A	ENST00000296849.5	+	9	938	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	NKD2_ENST00000274150.4_Missense_Mutation_p.V237M|NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Missense_Mutation_p.V237M	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	237					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCCCTACTGCGTGGACGAGAA	0.657																																					p.V237M		Atlas-SNP	.											.	NKD2	39	.	0			c.G709A						PASS	.						87	70	76					5																	1036421		2203	4299	6502	SO:0001583	missense	85409	exon9			TACTGCGTGGACG	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.709G>A	5.37:g.1036421G>A	ENSP00000296849:p.Val237Met	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_001271082	Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461936	0.63513	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.76060	0.11;-0.99;-0.99	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000004	D	0.84884	0.5571	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.975;0.989	D	0.86862	0.2030	10	0.87932	D	0	-14.8057	12.4572	0.55710	0.0:0.0:1.0:0.0	.	237;237	Q969F2-2;Q969F2	.;NKD2_HUMAN	M	237	ENSP00000296849:V237M;ENSP00000274150:V237M;ENSP00000440925:V237M	ENSP00000274150:V237M	V	+	1	0	NKD2	1089421	1.000000	0.71417	0.977000	0.42913	0.845000	0.48019	5.412000	0.66392	1.979000	0.57680	0.491000	0.48974	GTG	.	.	weak		0.657	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		A	1036421	G	A	1036421	3	1	6	1	0	0	0	0	1	0	0	0	10442	1145	40	1	743	1	NKD2	5	1036421	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		1036421	179878839	23	1226										
EPB41L4A	64097	hgsc.bcm.edu	37	chr5	111500816	111500817	+	Splice_Site	INS	-	-	TAAAA													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctttagacccatttcttctcINStaaaatatatttgaaaaatg					rs145708081|rs369027426		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:111500816_111500817insTAAAA	ENST00000261486.5	-	23	2209		c.e23-1		EPB41L4A_ENST00000507810.1_Intron|EPB41L4A-AS1_ENST00000413221.2_lincRNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CATTTCTTCTCTAAAATATATT	0.317																																					.		Atlas-Indel	.											.	EPB41L4A	130	.	0			c.1933-1->TTTTA						PASS	.			3408,36		1689,30,3						5.3	1		dbSNP_134	59	7446,316		3600,246,35	no	splice-3	EPB41L4A	NM_022140.3		5289,276,38	A1A1,A1R,RR		4.0711,1.0453,3.1412				10854,352				SO:0001630	splice_region_variant	64097	exon24			.	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1933-1->TTTTA	5.37:g.111500817_111500821dupTAAAA		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	185	22	0.118919	NM_022140	A4FUI6	Splice_Site	INS	ENST00000261486.5	37	CCDS43350.1																																																																																			-|0.025;TAAAA|0.975	0.975	strong		0.317	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Intron	TAAAA	111500817	-	TAAAA	111500816	8	5	6	1	0	1	1	0	0	0	1	0	5155	927	32	0	132	0	EPB41L4A	5	111500816	Splice_Site	INS	-	TCGA-FA-A7DS-01A-11D-A382-10	110464395	111500816	69414444	24	1227										
EGR1	1958	hgsc.bcm.edu	37	chr5	137801553	137801553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccatggacaactaccctaagCtggaggagatgatgctgctg	12	10	0	2	rs558452520		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:137801553C>T	ENST00000239938.4	+	1	375	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	35					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTACCCTAAGCTGGAGGAGAT	0.667																																					p.L35L		Atlas-SNP	.											.	EGR1	52	.	0			c.C103T						PASS	.						83	74	77					5																	137801553		2203	4300	6503	SO:0001819	synonymous_variant	1958	exon1			CCTAAGCTGGAGG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.103C>T	5.37:g.137801553C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	113	48	0.424779	NM_001964		Silent	SNP	ENST00000239938.4	37	CCDS4206.1																																																																																			.	.	none		0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		T	137801553	C	T	137801553	2	4	6	1	0	0	0	0	0	0	0	1	4971	796	28	2		2	EGR1	5	137801553	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	26300737	137801553	43113707	25	1228										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140563711	140563711	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ggactacgaggccctgcgggAgttcgagttccgcgtgagcg	17	11	0	1	rs17844652	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:140563711A>C	ENST00000361016.2	+	1	2732	c.1577A>C	c.(1576-1578)gAg>gCg	p.E526A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			E -> A (in Ref. 1; AAF81914/AAG10030 and 7; AAH36062). {ECO:0000305}.	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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCGGGAGTTCGAGTTC	0.697													C|||	1371	0.273762	0.3132	0.3329	5008	,	,		9870	0.1399		0.3688	False		,,,				2504	0.2188				p.E526A		Atlas-SNP	.											PCDHB16,NS,neuroblastoma,0,1	PCDHB16	159	1	0			c.A1577C						scavenged	.						44	45	45					5																	140563711		1720	3309	5029	SO:0001583	missense	57717	exon1			TGCGGGAGTTCGA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1577A>C	5.37:g.140563711A>C	ENSP00000354293:p.Glu526Ala	Somatic	4	2	0.5		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	949	0.43452380952380953	220	0.44715447154471544	191	0.5276243093922652	182	0.3181818181818182	356	0.46965699208443273	N	0.006	-2.045573	0.00398	.	.	ENSG00000196963	ENST00000361016	T	0.01084	5.36	4.26	1.19	0.21007	Cadherin (5);Cadherin-like (1);	0.934753	0.08675	N	0.910239	T	0.00012	0.0000	L	0.31207	0.915	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.36040	-0.9764	9	0.02654	T	1	.	3.3866	0.07274	0.5034:0.2884:0.1182:0.0901	rs17844652	526	Q9NRJ7	PCDBG_HUMAN	A	526	ENSP00000354293:E526A	ENSP00000354293:E526A	E	+	2	0	PCDHB16	140543895	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-0.225000	0.09151	-0.014000	0.14175	-0.202000	0.12741	GAG	A|0.568;C|0.432	0.432	strong		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		C	140563711	A	C	140563711	3	2	6	1	0	0	0	0	1	0	0	0	11541	304	11	5	1579	5	PCDHB16	5	140563711	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	2762158	140563711	40351549	26	1229										
LCP2	3937	hgsc.bcm.edu	37	chr5	169695446	169695446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gccatcggtctctgggggggCacaggaggctgctggggggt	21	9	1	0	rs2292254	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:169695446C>T	ENST00000046794.5	-	8	1179	c.564G>A	c.(562-564)gtG>gtA	p.V188V	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	188					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCTGGGGGGGCACAGGAGGCT	0.627											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2279	0.455072	0.2927	0.4856	5008	,	,		6718	0.6538		0.4245	False		,,,				2504	0.4796				p.V188V		Atlas-SNP	.											LCP2_ENST00000046794,NS,carcinoma,0,2	LCP2	133	2	0			c.G564A						scavenged	.	C		775,2241		158,459,891	2	3	2		564	3.3	0.8	5	dbSNP_100	2	2547,4561		602,1343,1609	no	coding-synonymous	LCP2	NM_005565.3		760,1802,2500	TT,TC,CC		35.8329,25.6963,32.8131		188/534	169695446	3322,6802	1508	3554	5062	SO:0001819	synonymous_variant	3937	exon8			GGGGGGCACAGGA		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.564G>A	5.37:g.169695446C>T		Somatic	3	1	0.333333	1879	WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																			C|0.530;T|0.470	0.470	strong		0.627	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169695446	C	T	169695446	2	4	6	1	0	0	0	0	0	0	0	1	8692	697	25	2		2	LCP2	5	169695446	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	29131735	169695446	11219814	27	1230										
GABRP	2568	hgsc.bcm.edu	37	chr5	170222292	170222292	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ggcaacaagagcttcactctGgatgcccgcctcgtggagtt	12	12	2	1	rs41315922		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:170222292G>T	ENST00000518525.1	+	6	785	c.321G>T	c.(319-321)ctG>ctT	p.L107L	GABRP_ENST00000519385.1_Silent_p.L107L|GABRP_ENST00000265294.4_Silent_p.L107L|GABRP_ENST00000519598.1_Silent_p.L107L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	107					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTTCACTCTGGATGCCCGCC	0.567																																					p.L107L		Atlas-SNP	.											.	GABRP	65	.	0			c.G321T						PASS	.						124	128	127					5																	170222292		2203	4300	6503	SO:0001819	synonymous_variant	2568	exon5			CACTCTGGATGCC	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.321G>T	5.37:g.170222292G>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	67	23	0.343284	NM_014211	A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	CCDS4375.1																																																																																			G|1.000;C|0.000	.	alt		0.567	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		T	170222292	G	T	170222292	2	4	6	1	0	0	0	0	0	0	0	1	6174	1335	47	4		4	GABRP	5	170222292	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	526846	170222292	10692968	28	1231										
FAM153B	202134	hgsc.bcm.edu	37	chr5	175528119	175528119	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ggaagccacagaagttcacaTggtaaagtcgtcttctttcc	9	10	3	1	rs199710353		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr5:175528119T>C	ENST00000253490.4	+	11	689	c.632T>C	c.(631-633)aTg>aCg	p.M211T	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Splice_Site_p.M134T|FAM153B_ENST00000510151.1_Splice_Site_p.M134T			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	211								p.M211T(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAGTTCACATGGTAAAGTCG	0.433													N|||	1	0.000199681	0.0	0.0014	5008	,	,		30376	0.0		0.0	False		,,,				2504	0.0				p.M134T		Atlas-SNP	.											FAM153B,NS,carcinoma,0,4	FAM153B	28	4	4	Substitution - Missense(4)	endometrium(3)|kidney(1)	c.T401C						scavenged	.						258	307	289					5																	175528119		1510	2708	4218	SO:0001630	splice_region_variant	202134	exon10			TTCACATGGTAAA	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.633+1T>C	5.37:g.175528119T>C		Somatic	490	4	0.00816326		WXS	Illumina HiSeq	Phase_I	450	7	0.0155556	NM_001265615	A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	T	0.008	-1.861446	0.00552	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.917	-0.575	0.11734	.	.	.	.	.	T	0.20292	0.0488	N	0.24115	0.695	0.09310	N	1	B	0.33528	0.416	B	0.35470	0.203	T	0.18618	-1.0331	8	0.35671	T	0.21	.	2.9058	0.05720	0.5811:0.0:0.0:0.4189	.	211	P0C7A2	F153B_HUMAN	T	134;211	.	ENSP00000253490:M211T	M	+	2	0	FAM153B	175460725	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	-0.418000	0.07080	-0.147000	0.11254	-0.935000	0.02700	ATG	T|0.500;C|0.500	0.500	weak		0.433	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529	Missense_Mutation	C	175528119	T	C	175528119	5	2	6	1	0	0	0	0	0	0	1	0	5461	1478	51	2	674	2	FAM153B	5	175528119	Splice_Site	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	5305827	175528119	5387141	29	1232										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tgctgctgctgatgctgatgCtgctgctgctgctgctgctg	14	11	0	2	rs28555263	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442				p.Q208H		Atlas-SNP	.											ATXN1,rectum,carcinoma,0,1	ATXN1	117	1	0			c.G624T						scavenged	.						5	8	7					6																	16327918		1579	3505	5084	SO:0001583	missense	6310	exon7			CTGATGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His	Somatic	40	3	0.075		WXS	Illumina HiSeq	Phase_I	40	9	0.225	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG	C|0.500;A|0.500	0.500	weak		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327918	C	A	16327918	3	1	6	1	0	0	0	0	1	0	0	0	1209	796	28	4	1831	4	ATXN1	6	16327918	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10		16327918	154787149	30	1233										
HIST1H4H	8365	hgsc.bcm.edu	37	chr6	26285531	26285531	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagtgacagcgtcacgaatcAcgttctccaggaacaccttc	8	13	3	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:26285531A>T	ENST00000377727.1	-	1	206	c.197T>A	c.(196-198)gTg>gAg	p.V66E	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.V66E	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GTCACGAATCACGTTCTCCAG	0.557										HNSCC(76;0.23)																											p.V66E		Atlas-SNP	.											.	HIST1H4H	16	.	0			c.T197A						PASS	.						182	149	160					6																	26285531		2203	4300	6503	SO:0001583	missense	8365	exon1			CGAATCACGTTCT	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.197T>A	6.37:g.26285531A>T	ENSP00000366956:p.Val66Glu	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	72	29	0.402778	NM_003543	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.340399	0.60963	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.70631	-0.5;-0.5	4.4	4.4	0.53042	.	0.000000	0.45606	U	0.000344	T	0.72326	0.3446	.	.	.	0.44194	D	0.997011	.	.	.	.	.	.	T	0.77389	-0.2606	7	0.87932	D	0	.	11.8938	0.52646	1.0:0.0:0.0:0.0	.	.	.	.	E	66	ENSP00000289352:V66E;ENSP00000366956:V66E	ENSP00000289352:V66E	V	-	2	0	HIST1H4H	26393510	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	9.196000	0.94978	1.770000	0.52166	0.402000	0.26972	GTG	.	.	none		0.557	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		T	26285531	A	T	26285531	3	4	6	1	0	0	0	0	1	0	0	0	7172	159	6	5	118	5	HIST1H4H	6	26285531	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	9957613	26285531	144829536	31	1234										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239047	31239047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tgtaatccttgccgtcgtagGcggactggtcatacccgcgg	13	12	1	0	rs281860470		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:31239047G>A	ENST00000376228.5	-	3	436	c.422C>T	c.(421-423)gCc>gTc	p.A141V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A141V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	141	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCCGTCGTAGGCGGACTGGTC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		12845	0.0		0.0	False		,,,				2504	0.001				p.A141V		Atlas-SNP	.											.	HLA-C	92	.	0			c.C422T						PASS	.						35	27	30					6																	31239047		2182	4253	6435	SO:0001583	missense	3107	exon3			TCGTAGGCGGACT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.422C>T	6.37:g.31239047G>A	ENSP00000365402:p.Ala141Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	56	22	0.392857	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.394451	0.42410	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00018	9.08;9.08	2.59	2.59	0.31030	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.229535	0.21218	U	0.078193	T	0.00328	0.0010	H	0.99914	4.94	0.20196	N	0.999921	D;P;P;P	0.58970	0.984;0.878;0.878;0.939	P;P;P;P	0.58391	0.838;0.482;0.61;0.662	T	0.46830	-0.9163	10	0.87932	D	0	.	7.4947	0.27481	0.0:0.2697:0.7303:0.0	.	141;141;141;141	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	141;141;141;178	ENSP00000365402:A141V;ENSP00000372819:A141V	ENSP00000365402:A141V	A	-	2	0	HLA-C	31347026	0.028000	0.19301	0.011000	0.14972	0.023000	0.10783	0.934000	0.28910	1.768000	0.52137	0.305000	0.20034	GCC	.	.	weak		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31239047	G	A	31239047	3	1	6	1	0	0	0	0	1	0	0	0	7197	1203	42	2	702	2	HLA-C	6	31239047	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	4953516	31239047	139876020	32	1235										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239416	31239416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tagccgcgcaggttccgcagGctcactcggtcagcctgtgc	13	15	2	0	rs281860412		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:31239416G>A	ENST00000376228.5	-	2	317	c.303C>T	c.(301-303)agC>agT	p.S101S	HLA-C_ENST00000383329.3_Silent_p.S101S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	101	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGTTCCGCAGGCTCACTCGGT	0.711																																					p.S101S		Atlas-SNP	.											.	HLA-C	92	.	0			c.C303T						PASS	.						42	43	42					6																	31239416		1511	2709	4220	SO:0001819	synonymous_variant	3107	exon2			CCGCAGGCTCACT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.303C>T	6.37:g.31239416G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	74	50	0.675676	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	N	6.547	0.469265	0.12461	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	1.92	0.25849	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	.	7.0143	0.24879	0.0:0.0:0.7285:0.2715	.	.	.	.	S	101	.	.	P	-	1	0	HLA-C	31347395	0.986000	0.35501	0.023000	0.16930	0.010000	0.07245	2.812000	0.47994	0.735000	0.32537	0.305000	0.20034	CCT	.	.	weak		0.711	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31239416	G	A	31239416	2	1	6	1	0	0	0	0	0	0	0	1	7197	1194	42	2		2	HLA-C	6	31239416	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	369	31239416	139875651	33	1236										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31323097	31323098	+	Frame_Shift_Ins	INS	-	-	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tcatccccctccttaccccaINStctcagggtgaggggcttcg					rs281864645		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:31323097_31323098insT	ENST00000412585.2	-	4	919_920	c.891_892insA	c.(889-894)agatggfs	p.W298fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	298	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTTACCCCATCTCAGGGTGA	0.594									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.W298fs		Atlas-Indel	.											.	HLA-B	54	.	0			c.892_893insA						PASS	.																																			SO:0001589	frameshift_variant	3106	exon4	Familial Cancer Database	;Lichen Sclerosis, Familial	.	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.892dupA	6.37:g.31323098_31323098dupT	ENSP00000399168:p.Trp298fs	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	56	20	0.357143	NM_005514	Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																			.	.	none		0.594	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31323098	-	T	31323097	7	5	6	1	0	1	1	0	0	0	0	0	7196	217	8	0	212	0	HLA-B	6	31323097	Frame_Shift_Ins	INS	-	TCGA-FA-A7DS-01A-11D-A382-10	83681	31323097	139791970	34	1237										
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33048663	33048663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgggcagtgccggacaggatGtgcagacacaactacgagct	14	11	0	1	rs1042153|rs386699871	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:33048663G>A	ENST00000418931.2	+	2	431	c.315G>A	c.(313-315)atG>atA	p.M105I	HLA-DPA1_ENST00000419277.1_5'Flank|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.M105I|HLA-DPB1_ENST00000471184.1_3'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	105	Beta-1.		M -> I (in allele DPB1*08:02, allele DPB1*09:02, allele DPB1*13:01, allele DPB1*13:02 and allele DPB1*19:01; dbSNP:rs1042153).|M -> V (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*17:02, allele DPB1*21:02, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*29:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*88:01, allele DPB1*90:01 and allele DPB1*92:01; dbSNP:rs1042151). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGGACAGGATGTGCAGACACA	0.701													.|||	1549	0.309305	0.4607	0.2507	5008	,	,		12515	0.2123		0.2296	False		,,,				2504	0.3282				p.M105I		Atlas-SNP	.											HLA-DPB1,NS,lymphoid_neoplasm,+2,1	HLA-DPB1	28	1	0			c.G315A						scavenged	.						29	30	30					6																	33048663		1510	2709	4219	SO:0001583	missense	3115	exon2			CAGGATGTGCAGA		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.315G>A	6.37:g.33048663G>A	ENSP00000408146:p.Met105Ile	Somatic	12	4	0.333333		WXS	Illumina HiSeq	Phase_I	17	14	0.823529	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	602|602	0.27564102564102566|0.27564102564102566	239|239	0.48577235772357724|0.48577235772357724	82|82	0.2265193370165746|0.2265193370165746	116|116	0.20279720279720279|0.20279720279720279	165|165	0.21767810026385223|0.21767810026385223	G|G	11.30|11.30	1.597043|1.597043	0.28445|0.28445	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	.|T;T;T	.|0.00311	.|8.15;8.15;8.15	4.02|4.02	0.0296|0.0296	0.14163|0.14163	.|MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	.|2.303120	.|0.02598	.|U	.|0.100781	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.02181|0.02181	-0.65|-0.65	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.10450	.|0.001;0.004;0.005	T|T	0.28396|0.28396	-1.0045|-1.0045	4|9	.|0.52906	.|T	.|0.07	.|.	5.9122|5.9122	0.19035|0.19035	0.1929:0.4754:0.3317:0.0|0.1929:0.4754:0.3317:0.0	rs1042153;rs3173290;rs17214748;rs17420330;rs17851009|rs1042153;rs3173290;rs17214748;rs17420330;rs17851009	.|71;115;105	.|A2ALJ6;Q59GY1;P04440	.|.;.;DPB1_HUMAN	Y|I	72|105;105;105;82	.|ENSP00000408146:M105I;ENSP00000439674:M105I;ENSP00000412654:M82I	.|ENSP00000389210:M105I	C|M	+|+	2|3	0|0	HLA-DPB1|HLA-DPB1	33156641|33156641	0.030000|0.030000	0.19436|0.19436	0.450000|0.450000	0.26969|0.26969	0.008000|0.008000	0.06430|0.06430	0.177000|0.177000	0.16801|0.16801	0.105000|0.105000	0.17753|0.17753	-0.134000|-0.134000	0.14843|0.14843	TGT|ATG	G|0.755;A|0.245	0.245	strong		0.701	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33048663	G	A	33048663	3	1	6	1	0	0	0	0	1	0	0	0	7203	1377	48	2	321	2	HLA-DPB1	6	33048663	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	1725566	33048663	138066404	35	1238										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138372	37138372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atgctcttgtccaaaatcaaCtcgcttgcccacctgcgcgc	7	16	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138372C>T	ENST00000373509.5	+	1	394	c.21C>T	c.(19-21)aaC>aaT	p.N7N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	98					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCAAAATCAACTCGCTTGCCC	0.721			T	BCL6	NHL																																p.N98N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C294T						PASS	.						31	31	31					6																	37138372		2202	4298	6500	SO:0001819	synonymous_variant	5292	exon1			AATCAACTCGCTT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.21C>T	6.37:g.37138372C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	54	20	0.37037	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138372	C	T	37138372	2	4	6	1	0	0	0	0	0	0	0	1	11927	564	20	2		2	PIM1	6	37138372	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	4089709	37138372	133976695	36	1239			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138549	37138549	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgtgcttccccctttcctagGcaaggagaaggagcccctgg	12	14	0	1	rs377274719		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138549G>A	ENST00000373509.5	+	2	456	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	119					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCTTTCCTAGGCAAGGAGAAG	0.721			T	BCL6	NHL																																p.G119D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,3	PIM1	71	3	0			c.G356A						PASS	.	G	ASP/GLY	1,4257		0,1,2128	18	26	23		83	3.8	1	6		23	0,8506		0,0,4253	no	missense-near-splice	PIM1	NM_002648.3	94	0,1,6381	AA,AG,GG		0.0,0.0235,0.0078	probably-damaging	28/314	37138549	1,12763	2129	4253	6382	SO:0001630	splice_region_variant	5292	exon2			TCCTAGGCAAGGA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.83-1G>A	6.37:g.37138549G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	47	24	0.510638	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215565	0.39102	2.35E-4	0.0	ENSG00000137193	ENST00000373509	T	0.69306	-0.39	3.83	3.83	0.44106	Protein kinase-like domain (1);	0.187844	0.33772	N	0.004562	T	0.23330	0.0564	N	0.08118	0	0.30455	N	0.774827	P	0.42827	0.791	B	0.36719	0.231	T	0.07083	-1.0791	9	.	.	.	.	9.7286	0.40348	0.0983:0.0:0.9017:0.0	.	119	P11309	PIM1_HUMAN	D	28	ENSP00000362608:G28D	.	G	+	2	0	PIM1	37246527	0.119000	0.22226	0.998000	0.56505	0.963000	0.63663	-0.036000	0.12185	2.138000	0.66242	0.549000	0.68633	GGC	.	.	weak		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		Missense_Mutation	A	37138549	G	A	37138549	5	1	6	1	0	0	0	0	0	0	1	0	11927	1217	42	2	89	2	PIM1	6	37138549	Splice_Site	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	177	37138549	133976518	37	1240			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138577	37138577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aaggagcccctggagtcgcaGtaccaggtgggcccgctact	14	13	0	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138577G>A	ENST00000373509.5	+	2	484	c.111G>A	c.(109-111)caG>caA	p.Q37Q		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	128					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.Q37H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGAGTCGCAGTACCAGGTGG	0.706			T	BCL6	NHL																																p.Q128Q		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,2	PIM1	71	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G384A						PASS	.						22	32	28					6																	37138577		2167	4268	6435	SO:0001819	synonymous_variant	5292	exon2			GTCGCAGTACCAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.111G>A	6.37:g.37138577G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	52	28	0.538462	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.706	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138577	G	A	37138577	2	1	6	1	0	0	0	0	0	0	0	1	11927	1020	36	2		2	PIM1	6	37138577	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	28	37138577	133976490	38	1241			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138765	37138765	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctgggcttccaggtggccatCaaacacgtggagaaggaccg	14	11	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138765C>T	ENST00000373509.5	+	3	571	c.198C>T	c.(196-198)atC>atT	p.I66I		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	157					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGGTGGCCATCAAACACGTGG	0.721			T	BCL6	NHL																																p.I157I		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C471T						PASS	.						53	56	55					6																	37138765		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon3			GGCCATCAAACAC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.198C>T	6.37:g.37138765C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	21	0.244186	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138765	C	T	37138765	2	4	6	1	0	0	0	0	0	0	0	1	11927	816	29	2		2	PIM1	6	37138765	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	188	37138765	133976302	39	1242			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138901	37138901	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cggccccctcgcccctgcagCctaatggcactcgagtgccc	10	20	0	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138901C>T	ENST00000373509.5	+	4	614	c.241C>T	c.(241-243)Cct>Tct	p.P81S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	172					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCCCCTGCAGCCTAATGGCAC	0.667			T	BCL6	NHL																																p.P172S		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C514T						PASS	.						45	52	50					6																	37138901		2203	4299	6502	SO:0001630	splice_region_variant	5292	exon4			CTGCAGCCTAATG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.241-1C>T	6.37:g.37138901C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	48	12	0.25	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820601	0.16678	.	.	ENSG00000137193	ENST00000373509	T	0.63096	-0.02	4.28	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.230218	0.35525	N	0.003156	T	0.29882	0.0747	N	0.20610	0.595	0.41234	D	0.98659	B	0.06786	0.001	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	15.0358	0.71744	0.0:1.0:0.0:0.0	.	172	P11309	PIM1_HUMAN	S	81	ENSP00000362608:P81S	.	P	+	1	0	PIM1	37246879	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.378000	0.59568	2.371000	0.80710	0.549000	0.68633	CCT	.	.	none		0.667	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		Missense_Mutation	T	37138901	C	T	37138901	5	4	6	1	0	0	0	0	0	0	1	0	11927	753	26	2	255	2	PIM1	6	37138901	Splice_Site	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	136	37138901	133976166	40	1243			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138951	37138951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtcctgctgaagaaggtgagCtcgggtttctccggcgtcat	14	10	2	3			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37138951C>T	ENST00000373509.5	+	4	664	c.291C>T	c.(289-291)agC>agT	p.S97S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	188					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGAAGGTGAGCTCGGGTTTCT	0.647			T	BCL6	NHL																																p.S188S		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,+1,5	PIM1	71	5	0			c.C564T						PASS	.						82	92	89					6																	37138951		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			GGTGAGCTCGGGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.291C>T	6.37:g.37138951C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	50	28	0.56	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.647	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138951	C	T	37138951	2	4	6	1	0	0	0	0	0	0	0	1	11927	796	28	2		2	PIM1	6	37138951	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	50	37138951	133976116	41	1244			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139042	37139042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agaggcccgagccggtgcaaGatctcttcgacttcatcacg	11	13	3	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37139042G>A	ENST00000373509.5	+	4	755	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	219					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCCGGTGCAAGATCTCTTCGA	0.622			T	BCL6	NHL																																p.D219N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G655A						PASS	.						81	95	91					6																	37139042		2203	4300	6503	SO:0001583	missense	5292	exon4			GTGCAAGATCTCT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.382G>A	6.37:g.37139042G>A	ENSP00000362608:p.Asp128Asn	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857582	0.91433	.	.	ENSG00000137193	ENST00000373509	T	0.15603	2.41	4.28	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.42008	1.315	0.80722	D	1	D	0.53745	0.962	P	0.62885	0.908	T	0.02081	-1.1217	10	0.87932	D	0	.	16.8746	0.86048	0.0:0.0:1.0:0.0	.	219	P11309	PIM1_HUMAN	N	128	ENSP00000362608:D128N	ENSP00000362608:D128N	D	+	1	0	PIM1	37247020	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.149000	0.94659	2.371000	0.80710	0.549000	0.68633	GAT	.	.	none		0.622	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139042	G	A	37139042	3	1	6	1	0	0	0	0	1	0	0	0	11927	942	33	2	396	2	PIM1	6	37139042	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	91	37139042	133976025	42	1245			1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139203	37139203	+	Missense_Mutation	SNP	G	G	C													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atcgacctcaatcgcggcgaGctcaagctcatcgacttcgg							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37139203G>C	ENST00000373509.5	+	4	916	c.543G>C	c.(541-543)gaG>gaC	p.E181D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.E181D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATCGCGGCGAGCTCAAGCTCA	0.637			T	BCL6	NHL																																p.E272D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G816C						scavenged	.						32	33	32					6																	37139203		2203	4300	6503	SO:0001583	missense	5292	exon4			CGGCGAGCTCAAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.543G>C	6.37:g.37139203G>C	ENSP00000362608:p.Glu181Asp	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	67	31	0.462687	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354972	0.24512	.	.	ENSG00000137193	ENST00000373509	T	0.66099	-0.19	4.36	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.207237	0.40554	N	0.001073	T	0.26412	0.0645	L	0.45698	1.435	0.33559	D	0.597158	B	0.13594	0.008	B	0.19946	0.027	T	0.07558	-1.0766	10	0.08837	T	0.75	.	5.5129	0.16890	0.3296:0.0:0.6704:0.0	.	272	P11309	PIM1_HUMAN	D	181	ENSP00000362608:E181D	ENSP00000362608:E181D	E	+	3	2	PIM1	37247181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.006000	0.40874	1.020000	0.39573	0.448000	0.29417	GAG	.	.	none		0.637	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37139203	G	C	37139203	3	2	6	1	0	0	0	0	1	0	0	0	11927	962	34	4	557	4	PIM1	6	37139203	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	161	37139203	133975864	43	1246	26	2	1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139210	37139210	+	Missense_Mutation	SNP	C	C	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tcaatcgcggcgagctcaagCtcatcgacttcgggtcgggg					rs200495767	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37139210C>T	ENST00000373509.5	+	4	923	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCTCAAGCTCATCGACTT	0.652			T	BCL6	NHL																																p.L275F		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,NS,0,1	PIM1	71	1	0			c.C823T						PASS	.						31	32	31					6																	37139210		2203	4300	6503	SO:0001583	missense	5292	exon4			CTCAAGCTCATCG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.550C>T	6.37:g.37139210C>T	ENSP00000362608:p.Leu184Phe	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	70	31	0.442857	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926320	0.92319	.	.	ENSG00000137193	ENST00000373509	T	0.26067	1.76	4.36	4.36	0.52297	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	0.000002	T	0.58509	0.2127	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74166	-0.3753	10	0.87932	D	0	.	15.8069	0.78520	0.0:1.0:0.0:0.0	.	275	P11309	PIM1_HUMAN	F	184	ENSP00000362608:L184F	ENSP00000362608:L184F	L	+	1	0	PIM1	37247188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.611000	0.82962	2.254000	0.74563	0.448000	0.29417	CTC	C|1.000;G|0.000	.	alt		0.652	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37139210	C	T	37139210	3	4	6	1	0	0	0	0	1	0	0	0	11927	797	28	2	564	2	PIM1	6	37139210	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	7	37139210	133975857	44	1247	26	2	1	9		10	9	2523	N	G_C	1.897638e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37140894	37140894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtggagatattcctttcgagCatgacgaagagatcatcagg	12	7	2	3			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:37140894C>T	ENST00000373509.5	+	5	1103	c.730C>T	c.(730-732)Cat>Tat	p.H244Y	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCCTTTCGAGCATGACGAAGA	0.537			T	BCL6	NHL																																p.H335Y		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C1003T						PASS	.						131	123	126					6																	37140894		2203	4300	6503	SO:0001583	missense	5292	exon5			TTCGAGCATGACG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.730C>T	6.37:g.37140894C>T	ENSP00000362608:p.His244Tyr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	133	44	0.330827	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475129	0.84640	.	.	ENSG00000137193	ENST00000373509	T	0.65916	-0.18	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.182235	0.48767	D	0.000170	T	0.45155	0.1328	L	0.45422	1.42	0.54753	D	0.999983	P	0.45957	0.869	B	0.37731	0.257	T	0.55036	-0.8203	10	0.56958	D	0.05	.	18.1853	0.89791	0.0:1.0:0.0:0.0	.	335	P11309	PIM1_HUMAN	Y	244	ENSP00000362608:H244Y	ENSP00000362608:H244Y	H	+	1	0	PIM1	37248872	1.000000	0.71417	0.998000	0.56505	0.484000	0.33280	5.755000	0.68750	2.660000	0.90430	0.591000	0.81541	CAT	.	.	none		0.537	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37140894	C	T	37140894	3	4	6	1	0	0	0	0	1	0	0	0	11927	710	25	2	748	2	PIM1	6	37140894	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	1684	37140894	133974173	45	1248			1	9		10	9	2523	N	G_C	1.897638e-21
MRPL14	64928	hgsc.bcm.edu	37	chr6	44081581	44081584	+	Stop_Codon_Del	DEL	CACA	CACA	-													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccagaggcctgggctcaactCacacaaagttctgagcaatg							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	CACA	CACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:44081581_44081584delCACA	ENST00000372014.3	-	0	565_568					NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			GGGCTCAACTCACACAAAGTTCTG	0.574																																					p.145_146del		Pindel,Atlas-Indel	.											.	MRPL14	15	.	0			c.435_438del						PASS	.																																			SO:0001567	stop_retained_variant	64928	exon3			.	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	Exception_encountered	6.37:g.44081581_44081584delCACA	Exception_encountered	Somatic	48	.	.		WXS	Illumina HiSeq	Phase_I	62	20	0.323	NM_032111	B2R575|Q96Q72	Frame_Shift_Del	DEL	ENST00000372014.3	37	CCDS34460.1																																																																																			.	.	none		0.574	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		-	44081584	CACA	-	44081581	7	5	6	1	0	1	0	1	0	0	0	0	9779	837	29	0	4	0	MRPL14	6	44081581	Stop_Codon_Del	DEL	CACA	TCGA-FA-A7DS-01A-11D-A382-10	6940687	44081581	127033486	46	1249										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152763351	152763351	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atctgctgctgcacatctctCttctttgctgagatccgctt	7	13	4	1	rs371765451		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:152763351C>A	ENST00000367255.5	-	31	4468	c.3867G>T	c.(3865-3867)aaG>aaT	p.K1289N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K1355N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1279N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1296N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1289N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1289N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1289N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1296N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1289					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCACATCTCTCTTCTTTGCTG	0.527										HNSCC(10;0.0054)																											p.K1296N		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G3888T						PASS	.						80	70	73					6																	152763351		2203	4300	6503	SO:0001583	missense	23345	exon31			ATCTCTCTTCTTT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3867G>T	6.37:g.152763351C>A	ENSP00000356224:p.Lys1289Asn	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	29	0.322222	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441045	0.43326	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88818	0.54;0.54;0.45;0.54;0.63;-2.39;-2.43;-2.43	5.41	2.67	0.31697	.	0.096661	0.44902	D	0.000408	D	0.85678	0.5752	L	0.56769	1.78	0.80722	D	1	P;P;P;D;P;P	0.56287	0.932;0.745;0.835;0.975;0.745;0.835	B;B;B;P;B;P	0.53185	0.341;0.276;0.39;0.72;0.276;0.466	D	0.84040	0.0364	10	0.48119	T	0.1	.	10.4617	0.44583	0.0:0.7281:0.0:0.2719	.	1272;1289;1279;1289;1289;1296	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1289;1296;1289;1296;1355;1289;1279;1289	ENSP00000356224:K1289N;ENSP00000396024:K1296N;ENSP00000265368:K1289N;ENSP00000390975:K1296N;ENSP00000341887:K1355N;ENSP00000356222:K1289N;ENSP00000356217:K1279N;ENSP00000414510:K1289N	ENSP00000265368:K1289N	K	-	3	2	SYNE1	152805044	1.000000	0.71417	0.550000	0.28217	0.423000	0.31445	1.782000	0.38654	0.350000	0.24002	-0.142000	0.14014	AAG	.	.	none		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152763351	C	A	152763351	3	1	6	1	0	0	0	0	1	0	0	0	15442	912	32	4	23063	4	SYNE1	6	152763351	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	108681770	152763351	18351716	47	1250										
ZDHHC14	79683	hgsc.bcm.edu	37	chr6	158074641	158074641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atcaccatgtacggggccacGcagtcacagagtgacatggt	12	11	2	2	rs35358008	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr6:158074641G>A	ENST00000359775.5	+	8	1939	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.T350T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	350					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		ACGGGGCCACGCAGTCACAGA	0.592																																					p.T350T		Atlas-SNP	.											.	ZDHHC14	39	.	0			c.G1050A						PASS	.						69	58	62					6																	158074641		2203	4300	6503	SO:0001819	synonymous_variant	79683	exon8			GGCCACGCAGTCA	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1050G>A	6.37:g.158074641G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	33	13	0.393939	NM_024630	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	CCDS5252.1																																																																																			G|0.959;T|0.041	.	alt		0.592	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		A	158074641	G	A	158074641	2	1	6	1	0	0	0	0	0	0	0	1	17601	1074	38	1		1	ZDHHC14	6	158074641	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	5311290	158074641	13040426	48	1251										
SNX8	29886	hgsc.bcm.edu	37	chr7	2304007	2304007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gcgatccgctcggccctgtcGcgaagcttgtgaaagctatt	12	12	0	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:2304007G>A	ENST00000222990.3	-	6	750	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	236					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R236R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCCCTGTCGCGAAGCTTGT	0.552																																					p.R236R		Atlas-SNP	.											SNX8,NS,carcinoma,0,2	SNX8	46	2	1	Substitution - coding silent(1)	ovary(1)	c.C708T						PASS	.						81	72	75					7																	2304007		2203	4300	6503	SO:0001819	synonymous_variant	29886	exon6			CCTGTCGCGAAGC	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.708C>T	7.37:g.2304007G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	31	11	0.354839	NM_013321	A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																			.	.	none		0.552	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			A	2304007	G	A	2304007	2	1	6	1	0	0	0	0	0	0	0	1	14908	1074	38	1		1	SNX8	7	2304007	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		2304007	156834656	49	1252										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48318518	48318518	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tgtgaaagaaatagctacttTaaaaaaaatagatcatttca	5	4	2	3	rs544493291	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:48318518T>A	ENST00000435803.1	+	18	7751	c.7727T>A	c.(7726-7728)tTa>tAa	p.L2576*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					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						ATAGCTACTTTAAAAAAAATA	0.318													T|||	3	0.000599042	0.0	0.0014	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.002				p.L2576X		Atlas-SNP	.											ABCA13_ENST00000435803,NS,carcinoma,-1,4	ABCA13	1192	4	0			c.T7727A						scavenged	.						55	59	58					7																	48318518		1794	4040	5834	SO:0001587	stop_gained	154664	exon18			CTACTTTAAAAAA	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.7727T>A	7.37:g.48318518T>A	ENSP00000411096:p.Leu2576*	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	97	32	0.329897	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	47	13.299669	0.99733	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	-0.0604	0.13789	.	1.145970	0.06770	N	0.783306	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0212	0.09667	0.0:0.3009:0.2063:0.4928	.	.	.	.	X	2576	.	ENSP00000411096:L2576X	L	+	2	0	ABCA13	48289064	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.274000	0.02820	-0.020000	0.14032	-0.331000	0.08364	TTA	.	.	none		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48318518	T	A	48318518	4	1	6	1	0	0	0	0	0	1	0	0	31	1764	61	5	7626	5	ABCA13	7	48318518	Nonsense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	46014511	48318518	110820145	50	1253										
PCLO	27445	hgsc.bcm.edu	37	chr7	82583413	82583413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtcagtagaaacagtgtcagCaactggcccttcaggtttag	11	9	3	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:82583413C>A	ENST00000333891.9	-	5	7193	c.6856G>T	c.(6856-6858)Gct>Tct	p.A2286S	PCLO_ENST00000423517.2_Missense_Mutation_p.A2286S	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						ACAGTGTCAGCAACTGGCCCT	0.403																																					p.A2286S		Atlas-SNP	.											.	PCLO	1506	.	0			c.G6856T						PASS	.						107	106	106					7																	82583413		1880	4119	5999	SO:0001583	missense	27445	exon5			TGTCAGCAACTGG	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.6856G>T	7.37:g.82583413C>A	ENSP00000334319:p.Ala2286Ser	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	166	52	0.313253	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	3.075	-0.190260	0.06299	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.35;2.34	5.48	2.37	0.29283	.	.	.	.	.	T	0.09069	0.0224	N	0.12182	0.205	0.22066	N	0.999384	B;B	0.16396	0.017;0.017	B;B	0.12156	0.007;0.007	T	0.27706	-1.0066	9	0.87932	D	0	.	4.8141	0.13358	0.2214:0.5849:0.1068:0.0869	.	2286;2286	Q9Y6V0-5;Q9Y6V0-6	.;.	S	2217;2286;2286	ENSP00000334319:A2286S;ENSP00000388393:A2286S	ENSP00000334319:A2286S	A	-	1	0	PCLO	82421349	0.003000	0.15002	0.589000	0.28718	0.072000	0.16883	-0.115000	0.10741	0.667000	0.31107	-0.230000	0.12252	GCT	.	.	none		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82583413	C	A	82583413	3	1	6	1	0	0	0	0	1	0	0	0	11583	710	25	4	8673	4	PCLO	7	82583413	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	34264895	82583413	76555250	51	1254										
KRIT1	889	hgsc.bcm.edu	37	chr7	91855062	91855062	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	taattgcttccttcaacaatTttgcagcttcttcccagttg	5	11	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:91855062T>G	ENST00000340022.2	-	12	2244	c.1226A>C	c.(1225-1227)aAa>aCa	p.K409T	KRIT1_ENST00000394505.2_Missense_Mutation_p.K409T|KRIT1_ENST00000394507.1_Missense_Mutation_p.K409T|KRIT1_ENST00000394503.2_Missense_Mutation_p.K361T|KRIT1_ENST00000412043.2_Missense_Mutation_p.K409T	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	409					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCAACAATTTTGCAGCTTC	0.338																																					p.K409T		Atlas-SNP	.											KRIT1,NS,carcinoma,-1,1	KRIT1	66	1	0			c.A1226C						PASS	.						134	133	133					7																	91855062		2202	4300	6502	SO:0001583	missense	889	exon13			AACAATTTTGCAG	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1226A>C	7.37:g.91855062T>G	ENSP00000344668:p.Lys409Thr	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	252	85	0.337302	NM_194456	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374446	0.42105	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;1.21	5.74	5.74	0.90152	Ankyrin repeat-containing domain (2);	0.097704	0.64402	D	0.000001	T	0.45418	0.1341	N	0.02539	-0.55	0.48571	D	0.999675	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43540	-0.9385	10	0.33940	T	0.23	-3.9337	11.9614	0.53011	0.0:0.0:0.1447:0.8553	.	361;409	A6NNU0;O00522	.;KRIT1_HUMAN	T	409;409;409;409;361;409	ENSP00000378015:K409T;ENSP00000344668:K409T;ENSP00000410909:K409T;ENSP00000378013:K409T;ENSP00000378011:K361T	ENSP00000344668:K409T	K	-	2	0	KRIT1	91692998	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.715000	0.61909	2.168000	0.68352	0.533000	0.62120	AAA	.	.	none		0.338	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			G	91855062	T	G	91855062	3	3	6	1	0	0	0	0	1	0	0	0	8445	1841	64	5	1016	5	KRIT1	7	91855062	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	9271649	91855062	67283601	52	1255										
C7orf61	402573	hgsc.bcm.edu	37	chr7	100061611	100061611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aaataatcctttgccaagccCgtctaacccatcggaagaac	6	13	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:100061611C>T	ENST00000332375.3	-	1	283	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	RN7SL161P_ENST00000582642.1_RNA|TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	13						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TTGCCAAGCCCGTCTAACCCA	0.532																																					p.R13Q		Atlas-SNP	.											.	C7orf61	12	.	0			c.G38A						PASS	.						60	56	57					7																	100061611		1940	4153	6093	SO:0001583	missense	402573	exon1			CAAGCCCGTCTAA		CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.38G>A	7.37:g.100061611C>T	ENSP00000327732:p.Arg13Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	82	27	0.329268	NM_001004323		Missense_Mutation	SNP	ENST00000332375.3	37	CCDS47661.1	.	.	.	.	.	.	.	.	.	.	C	4.827	0.153693	0.09185	.	.	ENSG00000185955	ENST00000332375	.	.	.	2.64	-0.9	0.10544	.	.	.	.	.	T	0.12305	0.0299	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30268	-0.9984	8	0.07030	T	0.85	-2.9938	4.6723	0.12694	0.0:0.5405:0.1821:0.2774	.	13	Q8IZ16	CG061_HUMAN	Q	13	.	ENSP00000327732:R13Q	R	-	2	0	C7orf61	99899547	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.051000	0.11885	-0.822000	0.04306	-1.401000	0.01141	CGG	.	.	none		0.532	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	NM_001004323		T	100061611	C	T	100061611	3	4	6	1	0	0	0	0	1	0	0	0	2408	652	23	1	594	1	C7orf61	7	100061611	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	8206549	100061611	59077052	53	1256										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121684560	121684560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tggacagtcatattcatgccTatgttaatgcactcctcatt	6	10	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr7:121684560T>C	ENST00000393386.2	+	23	6433	c.6022T>C	c.(6022-6024)Tat>Cat	p.Y2008H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y1141H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2008					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATTCATGCCTATGTTAATGC	0.438																																					p.Y2008H		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.T6022C						PASS	.						156	142	147					7																	121684560		2203	4300	6503	SO:0001583	missense	5803	exon23			CATGCCTATGTTA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6022T>C	7.37:g.121684560T>C	ENSP00000377047:p.Tyr2008His	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	107	34	0.317757	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602779	0.66445	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11169	2.8;2.8	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000016	T	0.32041	0.0816	M	0.69823	2.125	0.80722	D	1	D;P;D	0.89917	1.0;0.614;1.0	D;P;D	0.91635	0.999;0.517;0.999	T	0.01988	-1.1234	10	0.33141	T	0.24	.	15.6052	0.76664	0.0:0.0:0.0:1.0	.	1147;1141;2008	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	H	2008;1141	ENSP00000377047:Y2008H;ENSP00000410000:Y1141H	ENSP00000377047:Y2008H	Y	+	1	0	PTPRZ1	121471796	1.000000	0.71417	0.999000	0.59377	0.512000	0.34134	8.040000	0.89188	2.091000	0.63221	0.533000	0.62120	TAT	.	.	none		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121684560	T	C	121684560	3	2	6	1	0	0	0	0	1	0	0	0	12814	1522	53	3	6112	3	PTPRZ1	7	121684560	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	21622949	121684560	37454103	54	1257										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467580	10467580	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gctgtccttctccttctgttTctttagtttcctctaactgc	5	13	4	0	rs143686100		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr8:10467580T>G	ENST00000382483.3	-	4	4251	c.4028A>C	c.(4027-4029)gAa>gCa	p.E1343A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1359	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		tccttctgtttctttagtttc	0.488																																					p.E1343A		Atlas-SNP	.											.	RP1L1	453	.	0			c.A4028C						PASS	.						88	79	82					8																	10467580		1936	4125	6061	SO:0001583	missense	94137	exon4			TCTGTTTCTTTAG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4028A>C	8.37:g.10467580T>G	ENSP00000371923:p.Glu1343Ala	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	206	21	0.101942	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	0.992	-0.693556	0.03303	.	.	ENSG00000183638	ENST00000382483	T	0.04862	3.54	1.84	-3.69	0.04450	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.44982	-0.9292	9	0.25751	T	0.34	.	8.9452	0.35753	0.0:0.1894:0.0:0.8106	.	1343	A6NKC6	.	A	1343	ENSP00000371923:E1343A	ENSP00000371923:E1343A	E	-	2	0	RP1L1	10504990	0.002000	0.14202	0.001000	0.08648	0.157000	0.22087	-0.507000	0.06352	-1.515000	0.01784	-1.216000	0.01612	GAA	.	.	none		0.488	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			G	10467580	T	G	10467580	3	3	6	1	0	0	0	0	1	0	0	0	13533	1783	62	5	3178	5	RP1L1	8	10467580	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		10467580	135896442	55	1258										
CHRNB3	1142	hgsc.bcm.edu	37	chr8	42587226	42587226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tcttgtgttctatttaccttCggatgaaggagaaaaacttt	8	6	2	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr8:42587226C>T	ENST00000289957.2	+	5	904	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	259					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TATTTACCTTCGGATGAAGGA	0.433																																					p.S259L		Atlas-SNP	.											CHRNB3,NS,carcinoma,0,3	CHRNB3	74	3	0			c.C776T						scavenged	.						97	100	99					8																	42587226		2203	4300	6503	SO:0001583	missense	1142	exon5			TACCTTCGGATGA	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.776C>T	8.37:g.42587226C>T	ENSP00000289957:p.Ser259Leu	Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	270	5	0.0185185	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.855178	0.91355	.	.	ENSG00000147432	ENST00000289957	D	0.86769	-2.17	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96618	0.9457	10	0.87932	D	0	.	19.938	0.97149	0.0:1.0:0.0:0.0	.	259	Q05901	ACHB3_HUMAN	L	259	ENSP00000289957:S259L	ENSP00000289957:S259L	S	+	2	0	CHRNB3	42706383	1.000000	0.71417	0.833000	0.33012	0.806000	0.45545	7.818000	0.86416	2.710000	0.92621	0.558000	0.71614	TCG	.	.	none		0.433	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			T	42587226	C	T	42587226	3	4	6	1	0	0	0	0	1	0	0	0	3392	893	31	1	794	1	CHRNB3	8	42587226	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	32119646	42587226	103776796	56	1259										
PREX2	80243	hgsc.bcm.edu	37	chr8	69050753	69050753	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agaggaacctctggttgcaaGtaagtaattaggtatttaca	10	5	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr8:69050753G>T	ENST00000288368.4	+	33	4364		c.e33+1			NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGGTTGCAAGTAAGTAATTA	0.284																																					.		Atlas-SNP	.											PREX2,NS,carcinoma,+1,1	PREX2	614	1	0			c.4087+1G>T						scavenged	.						60	63	62					8																	69050753		2203	4294	6497	SO:0001630	splice_region_variant	80243	exon33			TTGCAAGTAAGTA	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4087+1G>T	8.37:g.69050753G>T		Somatic	260	2	0.00769231		WXS	Illumina HiSeq	Phase_I	257	3	0.0116732	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555504	0.86231	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6425	0.95763	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PREX2	69213307	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.396000	0.97270	2.713000	0.92767	0.655000	0.94253	.	.	.	none		0.284	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Intron	T	69050753	G	T	69050753	5	4	6	1	0	0	0	0	0	0	1	0	12477	1043	36	4	4447	4	PREX2	8	69050753	Splice_Site	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	26463527	69050753	77313269	57	1260										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106815063	106815063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagcataataaaatgtgagaAaaatgggaatttgaagcagc	10	3	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr8:106815063A>C	ENST00000407775.2	+	8	3003	c.2753A>C	c.(2752-2754)aAa>aCa	p.K918T	ZFPM2_ENST00000517361.1_Missense_Mutation_p.K786T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.K786T|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.K649T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	918					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)	p.K918I(1)		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)			AAATGTGAGAAAAATGGGAAT	0.458																																					p.K918T		Atlas-SNP	.											ZFPM2,colon,carcinoma,0,1	ZFPM2	219	1	1	Substitution - Missense(1)	large_intestine(1)	c.A2753C						PASS	.						40	39	39					8																	106815063		1886	4115	6001	SO:0001583	missense	23414	exon8			GTGAGAAAAATGG	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.2753A>C	8.37:g.106815063A>C	ENSP00000384179:p.Lys918Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	62	21	0.33871	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.150059	0.57151	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24723	1.84;2.34;2.34;3.54	5.76	5.76	0.90799	.	0.042154	0.85682	D	0.000000	T	0.34221	0.0890	L	0.29908	0.895	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.03555	-1.1025	10	0.42905	T	0.14	.	16.0709	0.80928	1.0:0.0:0.0:0.0	.	918	Q8WW38	FOG2_HUMAN	T	918;786;786;649	ENSP00000384179:K918T;ENSP00000430757:K786T;ENSP00000428720:K786T;ENSP00000367733:K649T	ENSP00000367733:K649T	K	+	2	0	ZFPM2	106884239	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.198000	0.70561	0.528000	0.53228	AAA	.	.	none		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106815063	A	C	106815063	3	2	6	1	0	0	0	0	1	0	0	0	17655	14	1	5	2783	5	ZFPM2	8	106815063	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	37764310	106815063	39548959	58	1261										
ADCK5	203054	hgsc.bcm.edu	37	chr8	145603114	145603114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cactctgctctgctgcacagAaggcagaagccctggccgtc	11	15	2	2	rs6599528	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr8:145603114A>C	ENST00000308860.6	+	2	95	c.51A>C	c.(49-51)agA>agC	p.R17S	ADCK5_ENST00000532190.1_Missense_Mutation_p.R17S|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	17			R -> S (in dbSNP:rs6599528). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.R17S(1)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCTGCACAGAAGGCAGAAGC	0.602													C|||	3167	0.632388	0.8101	0.5648	5008	,	,		20220	0.6577		0.4314	False		,,,				2504	0.6207				p.R17S		Atlas-SNP	.											ADCK5,rectum,carcinoma,0,3	ADCK5	36	3	1	Substitution - Missense(1)	stomach(1)	c.A51C						PASS	.	C	SER/ARG	3290,1114	391.2+/-328.0	1218,854,130	64	54	57		51	3.7	0	8	dbSNP_116	57	3755,4845	613.8+/-396.1	826,2103,1371	yes	missense	ADCK5	NM_174922.3	110	2044,2957,1501	CC,CA,AA		43.6628,25.2952,45.8244	benign	17/581	145603114	7045,5959	2202	4300	6502	SO:0001583	missense	203054	exon2			GCACAGAAGGCAG	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.51A>C	8.37:g.145603114A>C	ENSP00000310547:p.Arg17Ser	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	165	7	0.0424242	NM_174922	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	1275	0.5837912087912088	387	0.7865853658536586	201	0.5552486187845304	369	0.6451048951048951	318	0.41952506596306066	C	0.157	-1.085760	0.01873	0.747048	0.436628	ENSG00000173137	ENST00000308860;ENST00000532190	T;T	0.74421	-0.84;0.92	4.55	3.68	0.42216	.	0.917523	0.09037	N	0.857810	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42582	-0.9443	9	0.07175	T	0.84	-5.5209	5.77	0.18247	0.1918:0.7078:0.0:0.1004	rs6599528;rs61015944;rs6599528	17	Q3MIX3	ADCK5_HUMAN	S	17	ENSP00000310547:R17S;ENSP00000435155:R17S	ENSP00000310547:R17S	R	+	3	2	ADCK5	145573922	0.127000	0.22367	0.001000	0.08648	0.279000	0.26890	2.275000	0.43399	0.389000	0.25086	-0.975000	0.02590	AGA	A|0.433;C|0.567	0.567	strong		0.602	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		C	145603114	A	C	145603114	3	2	6	1	0	0	0	0	1	0	0	0	291	243	9	5	57	5	ADCK5	8	145603114	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	38788051	145603114	760908	59	1262										
ELAVL2	1993	hgsc.bcm.edu	37	chr9	23762079	23762079	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gagactctttagttcctcctGtgtcatgttctgaggaaggt	11	8	3	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr9:23762079G>A	ENST00000397312.2	-	2	428	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Q52*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Q52*|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Q81*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Q52*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	52	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTTCCTCCTGTGTCATGTTC	0.403																																					p.Q52X		Atlas-SNP	.											ELAVL2,colon,carcinoma,+1,1	ELAVL2	80	1	0			c.C154T						PASS	.						253	231	238					9																	23762079		2203	4300	6503	SO:0001587	stop_gained	1993	exon2			CCTCCTGTGTCAT	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.154C>T	9.37:g.23762079G>A	ENSP00000380479:p.Gln52*	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	233	63	0.270386	NM_001171195	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566914	0.98361	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	52;52;52;52;52;80;52	.	ENSP00000223951:Q52X	Q	-	1	0	ELAVL2	23752079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.993000	0.88291	2.810000	0.96702	0.585000	0.79938	CAG	.	.	none		0.403	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		A	23762079	G	A	23762079	4	1	6	1	0	0	0	0	0	1	0	0	5050	1386	48	2	949	2	ELAVL2	9	23762079	Nonsense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		23762079	117451352	60	1263										
ALDH1B1	219	hgsc.bcm.edu	37	chr9	38397089	38397089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tatggcctggctgcggctgtGttcacccgggatctggacaa	14	11	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr9:38397089G>A	ENST00000377698.3	+	2	1497	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	448					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTGCGGCTGTGTTCACCCGGG	0.577																																					p.V448V		Atlas-SNP	.											.	ALDH1B1	50	.	0			c.G1344A						PASS	.						65	63	64					9																	38397089		2203	4300	6503	SO:0001819	synonymous_variant	219	exon2			GGCTGTGTTCACC	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1344G>A	9.37:g.38397089G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_000692	B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	CCDS6615.1																																																																																			.	.	none		0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			A	38397089	G	A	38397089	2	1	6	1	0	0	0	0	0	0	0	1	493	1364	48	2		2	ALDH1B1	9	38397089	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	14635010	38397089	102816342	61	1264										
DAPK1	1612	hgsc.bcm.edu	37	chr9	90219907	90219907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gaagaaatgccgtgagaaaaGcaccggcctccagtatgccg	12	11	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr9:90219907G>T	ENST00000408954.3	+	3	436	c.101G>T	c.(100-102)aGc>aTc	p.S34I	DAPK1_ENST00000358077.5_Missense_Mutation_p.S34I|DAPK1_ENST00000469640.2_Missense_Mutation_p.S34I|DAPK1_ENST00000472284.1_Missense_Mutation_p.S34I|DAPK1_ENST00000491893.1_Missense_Mutation_p.S34I	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	34	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CGTGAGAAAAGCACCGGCCTC	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.S34I		Atlas-SNP	.											DAPK1_ENST00000408954,NS,carcinoma,-1,1	DAPK1	329	1	0			c.G101T						PASS	.						35	36	36					9																	90219907		2039	4222	6261	SO:0001583	missense	1612	exon3	Familial Cancer Database	Familial CLL	AGAAAAGCACCGG	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.101G>T	9.37:g.90219907G>T	ENSP00000386135:p.Ser34Ile	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	24	0.3	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187348	0.57909	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.04	5.04	0.67666	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	0.56097	D	0.000022	T	0.69993	0.3173	L	0.37507	1.11	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.598;0.977	P;B;P	0.54431	0.744;0.248;0.752	T	0.73522	-0.3956	10	0.72032	D	0.01	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	34;34;34	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	I	34	ENSP00000350785:S34I;ENSP00000417076:S34I;ENSP00000418885:S34I;ENSP00000386135:S34I;ENSP00000419026:S34I	ENSP00000350785:S34I	S	+	2	0	DAPK1	89409727	1.000000	0.71417	0.993000	0.49108	0.814000	0.46013	3.649000	0.54417	2.628000	0.89032	0.511000	0.50034	AGC	.	.	none		0.498	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90219907	G	T	90219907	3	4	6	1	0	0	0	0	1	0	0	0	4235	971	34	4	107	4	DAPK1	9	90219907	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	51822818	90219907	50993524	62	1265										
ZFP37	7539	hgsc.bcm.edu	37	chr9	115818843	115818843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atcacagctctcaccgcggcGctggcctcgggctcggacac	12	17	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr9:115818843G>A	ENST00000374227.3	-	1	153	c.126C>T	c.(124-126)agC>agT	p.S42S	ZFP37_ENST00000553380.1_Silent_p.S42S|ZFP37_ENST00000555206.1_Silent_p.S42S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	42	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCACCGCGGCGCTGGCCTCGG	0.592																																					p.S42S		Atlas-SNP	.											.	ZFP37	93	.	0			c.C126T						PASS	.						169	180	176					9																	115818843		2203	4300	6503	SO:0001819	synonymous_variant	7539	exon1			CGCGGCGCTGGCC	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.126C>T	9.37:g.115818843G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	24	0.347826	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	CCDS6787.1																																																																																			.	.	none		0.592	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		A	115818843	G	A	115818843	2	1	6	1	0	0	0	0	0	0	0	1	17645	1078	38	1		1	ZFP37	9	115818843	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	25598936	115818843	25394588	63	1266										
LCN8	389812	hgsc.bcm.edu	37	chr9	139651501	139651501	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gcctcttacctgttatatgcAaccttcacggtcaggttact	7	12	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr9:139651501A>C	ENST00000316144.5	-	0	762				LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Silent_p.V48V|LCN8_ENST00000482893.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGTTATATGCAACCTTCACGG	0.632																																					p.V48V		Atlas-SNP	.											.	LCN8	14	.	0			c.T144G						PASS	.						45	40	42					9																	139651501		2203	4300	6503	SO:0001628	intergenic_variant	138307	exon2			ATATGCAACCTTC		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651501A>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	50	19	0.38	NM_178469		Silent	SNP	ENST00000316144.5	37	CCDS7006.1																																																																																			.	.	none		0.632	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		C	139651501	A	C	139651501	1	2	6	0	1	0	0	0	0	0	0	0	8686	117	5	5		5	LCN8	9	139651501	IGR	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	23832658	139651501	1561930	64	1267										
ITIH5	80760	hgsc.bcm.edu	37	chr10	7679231	7679231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctctgcctgctgttgtgaagCggcagcacctccagggatgc	13	13	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000397145.2_Silent_p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGTGAAGCGGCAGCACCT	0.647																																					p.P204P		Atlas-SNP	.											.	ITIH5	343	.	0			c.G612A						PASS	.						83	87	86					10																	7679231		2203	4300	6503	SO:0001819	synonymous_variant	80760	exon5			GTGAAGCGGCAGC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.612G>A	10.37:g.7679231C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	33	16	0.484848	NM_001001851	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																				.	.	none		0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7679231	C	T	7679231	2	4	6	1	0	0	0	0	0	0	0	1	7907	755	27	1		1	ITIH5	10	7679231	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10		7679231	127855516	65	1268										
AGAP6	414189	hgsc.bcm.edu	37	chr10	51769455	51769455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gatctctggagctggatgacTggccagttgagctcaggaag	15	8	2	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr10:51769455T>C	ENST00000374056.4	+	7	1899	c.1501T>C	c.(1501-1503)Tgg>Cgg	p.W501R	AGAP6_ENST00000412531.3_Missense_Mutation_p.W524R			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	501	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GCTGGATGACTGGCCAGTTGA	0.522																																					p.W524R		Atlas-SNP	.											.	AGAP6	53	.	0			c.T1570C						PASS	.																																			SO:0001583	missense	414189	exon8			GATGACTGGCCAG		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1501T>C	10.37:g.51769455T>C	ENSP00000363168:p.Trp501Arg	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	39	11	0.282051	NM_001077665		Missense_Mutation	SNP	ENST00000374056.4	37		.	.	.	.	.	.	.	.	.	.	.	13.13	2.145491	0.37825	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	H	0.99746	4.745	0.53005	D	0.999966	D	0.89917	1.0	D	0.79108	0.992	T	0.81400	-0.0950	9	0.87932	D	0	.	4.565	0.12180	0.0:6.0E-4:0.0:0.9994	.	524	C9IYN2	.	R	524;501	.	ENSP00000363168:W524R	W	+	1	0	AGAP6	51439461	1.000000	0.71417	0.073000	0.20177	0.073000	0.16967	5.349000	0.66010	0.115000	0.18071	0.113000	0.15668	TGG	.	.	none		0.522	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		C	51769455	T	C	51769455	3	2	6	1	0	0	0	0	1	0	0	0	372	1580	55	3	1600	3	AGAP6	10	51769455	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	44090224	51769455	83765292	66	1269										
NEURL	9148	hgsc.bcm.edu	37	chr10	105331517	105331517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gttcttcagcggggtccgcaCggccgacccgctctgggccc	14	17	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr10:105331517C>T	ENST00000369780.4	+	3	996	c.587C>T	c.(586-588)aCg>aTg	p.T196M	NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.T179M	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		196	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T196M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGGTCCGCACGGCCGACCCG	0.652																																					p.T196M		Atlas-SNP	.											NEURL,NS,lymphoid_neoplasm,0,1	NEURL	38	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C587T						PASS	.						119	83	95					10																	105331517		2203	4300	6503	SO:0001583	missense	9148	exon3			TCCGCACGGCCGA																												ENST00000369780.4:c.587C>T	10.37:g.105331517C>T	ENSP00000358795:p.Thr196Met	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_004210	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034705	0.75617	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777	T;T	0.30981	1.51;1.51	5.64	5.64	0.86602	NEUZ (1);	0.047098	0.85682	D	0.000000	T	0.35970	0.0950	L	0.38838	1.175	0.53688	D	0.999976	D	0.65815	0.995	P	0.53185	0.72	T	0.07309	-1.0779	10	0.66056	D	0.02	-25.4468	12.0702	0.53611	0.0:0.9218:0.0:0.0782	.	196	O76050	NEU1A_HUMAN	M	196;179;179	ENSP00000358795:T196M;ENSP00000358792:T179M	ENSP00000358792:T179M	T	+	2	0	NEURL	105321507	0.002000	0.14202	0.971000	0.41717	0.856000	0.48823	0.869000	0.27996	2.648000	0.89879	0.561000	0.74099	ACG	.	.	none		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			T	105331517	C	T	105331517	3	4	6	1	0	0	0	0	1	0	0	0	10345	536	19	1	597	1	NEURL	10	105331517	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	53562062	105331517	30203230	67	1270										
TACC2	10579	hgsc.bcm.edu	37	chr10	123843062	123843062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cacgcagagctgccctggggCttgccaagtcctgccctggt	13	15	0	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr10:123843062C>T	ENST00000369005.1	+	4	1387	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	TACC2_ENST00000515273.1_Silent_p.G349G|TACC2_ENST00000334433.3_Silent_p.G349G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G349G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G349G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	349					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCCTGGGGCTTGCCAAGTC	0.627																																					p.G349G		Atlas-SNP	.											.	TACC2	271	.	0			c.C1047T						PASS	.						31	36	34					10																	123843062		2203	4298	6501	SO:0001819	synonymous_variant	10579	exon4			CTGGGGCTTGCCA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1047C>T	10.37:g.123843062C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	52	14	0.269231	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																			.	.	none		0.627	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123843062	C	T	123843062	2	4	6	1	0	0	0	0	0	0	0	1	15499	784	28	2		2	TACC2	10	123843062	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	18511545	123843062	11691685	68	1271										
TACC2	10579	hgsc.bcm.edu	37	chr10	123987498	123987498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gctggaggccatgggcttggGcaccccttcagaagcgattg	15	11	1	1	rs114249776	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr10:123987498G>A	ENST00000369005.1	+	14	8211	c.7871G>A	c.(7870-7872)gGc>gAc	p.G2624D	TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000368999.1_Missense_Mutation_p.G714D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2624					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATGGGCTTGGGCACCCCTTCA	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.0				p.G2624D		Atlas-SNP	.											.	TACC2	271	.	0			c.G7871A						PASS	.	G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	6,4400	11.4+/-27.6	0,6,2197	77	81	80		2105,2105,2309,7871	5.2	1	10	dbSNP_132	80	0,8600		0,0,4300	yes	missense,missense,missense,missense	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	94,94,94,94	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging	702/1027,702/997,770/1095,2624/2949	123987498	6,13000	2203	4300	6503	SO:0001583	missense	10579	exon14			GCTTGGGCACCCC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7871G>A	10.37:g.123987498G>A	ENSP00000358001:p.Gly2624Asp	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	52	20	0.384615	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.95	2.983285	0.53827	0.001362	0.0	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18657	3.71;3.4;4.04;4.01;3.71;3.4;4.04;2.2;2.2;3.23;3.27;3.22;3.27;2.4	5.25	5.25	0.73442	.	0.000000	0.37623	N	0.002017	T	0.33235	0.0856	L	0.29908	0.895	0.53688	D	0.999977	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998;0.999;0.982;0.999;1.0	D;D;D;D;D;D;P;D;D	0.97110	0.986;1.0;0.986;0.986;0.966;0.973;0.881;0.973;0.995	T	0.02553	-1.1142	10	0.15066	T	0.55	-21.8403	17.3979	0.87451	0.0:0.0:1.0:0.0	.	2628;714;2579;2628;702;702;324;770;2624	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2624;770;2628;2579;2624;770;2628;2614;328;324;702;714;714;702;359	ENSP00000358001:G2624D;ENSP00000425062:G770D;ENSP00000424467:G2628D;ENSP00000427618:G2579D;ENSP00000334280:G2624D;ENSP00000350701:G770D;ENSP00000395048:G2628D;ENSP00000357997:G328D;ENSP00000357996:G324D;ENSP00000353763:G702D;ENSP00000357995:G714D;ENSP00000422815:G714D;ENSP00000260733:G702D;ENSP00000422725:G359D	ENSP00000260733:G702D	G	+	2	0	TACC2	123977488	1.000000	0.71417	0.974000	0.42286	0.024000	0.10985	4.505000	0.60421	2.618000	0.88619	0.655000	0.94253	GGC	G|0.999;A|0.001	0.001	strong		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123987498	G	A	123987498	3	1	6	1	0	0	0	0	1	0	0	0	15499	1203	42	2	7993	2	TACC2	10	123987498	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	144436	123987498	11547249	69	1272										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092688	1092689	+	In_Frame_Ins	INS	-	-	CAA													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aaccaccactcccagccctcINScaacgactacgcccatcact							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:1092688_1092689insCAA	ENST00000441003.2	+	30	4534_4535	c.4507_4508insCAA	c.(4507-4509)cca>cCAAca	p.1506_1507insT	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_In_Frame_Ins_p.1507_1508insT|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4241	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)	tcccagccctccaacgactacg	0.634																																					p.P1503delinsPT		Atlas-Indel	.											.	MUC2	614	.	0			c.4507_4508insCAA						PASS	.																																			SO:0001652	inframe_insertion	4583	exon30			.	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.4508_4510dupCAA	11.37:g.1092689_1092691dupCAA	ENSP00000415183:p.Thr1506_Thr1506dup	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	119	13	0.109244	NM_002457	Q14878	In_Frame_Ins	INS	ENST00000441003.2	37																																																																																				.	.	none		0.634	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		CAA	1092689	-	CAA	1092688	7	5	6	1	0	1	1	0	0	0	0	0	9975	855	30	0	4625	0	MUC2	11	1092688	In_Frame_Ins	INS	-	TCGA-FA-A7DS-01A-11D-A382-10		1092688	133913828	70	1273										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093512	1093512	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	accaccaccactacgatgacCccaaccccaacacccaccag	3	22	0	1	rs34493663	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:1093512C>A	ENST00000441003.2	+	30	5358	c.5331C>A	c.(5329-5331)acC>acA	p.T1777T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_Silent_p.T65T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.T1777T(3)|p.?(3)		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)	ctacgatgaccccaaccccaa	0.617																																					p.T1777T		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,6	MUC2	614	6	6	Unknown(3)|Substitution - coding silent(3)	prostate(6)	c.C5331A						scavenged	.						95	121	112					11																	1093512		2165	4239	6404	SO:0001819	synonymous_variant	4583	exon30			GATGACCCCAACC	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.5331C>A	11.37:g.1093512C>A		Somatic	18	2	0.111111		WXS	Illumina HiSeq	Phase_I	11	5	0.454545	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				C|0.667;A|0.333	0.333	strong		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093512	C	A	1093512	2	1	6	1	0	0	0	0	0	0	0	1	9975	610	22	4		4	MUC2	11	1093512	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	824	1093512	133913004	71	1274										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1260239	1260239	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgggcctgtgtgtgtcctggCggactccggacacctgccgt	15	14	0	0	rs374136981	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:1260239C>A	ENST00000529681.1	+	26	3494	c.3436C>A	c.(3436-3438)Cgg>Agg	p.R1146R	MUC5B_ENST00000447027.1_Silent_p.R1149R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1146	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGTCCTGGCGGACTCCGGA	0.687													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14063	0.0		0.001	False		,,,				2504	0.001				p.R1146R		Atlas-SNP	.											.	MUC5B	473	.	0			c.C3436A						PASS	.	C		0,4268		0,0,2134	11	16	14		3436	-7.6	0.6	11		14	1,8413		0,1,4206	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6340	AA,AC,CC		0.0119,0.0,0.0079		1146/5763	1260239	1,12681	2134	4207	6341	SO:0001819	synonymous_variant	727897	exon26			TCCTGGCGGACTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3436C>A	11.37:g.1260239C>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	77	26	0.337662	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	weak		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1260239	C	A	1260239	2	1	6	1	0	0	0	0	0	0	0	1	9979	759	27	4		4	MUC5B	11	1260239	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	166727	1260239	133746277	72	1275										
KRTAP5-1	387264	hgsc.bcm.edu	37	chr11	1605992	1605992	+	Missense_Mutation	SNP	G	G	C													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagaaccacaggcccccttgGagcacccacaggagccacag					rs60899198	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:1605992G>C	ENST00000382171.2	-	1	521	c.488C>G	c.(487-489)tCc>tGc	p.S163C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652													g|||	4	0.000798722	0.0	0.0014	5008	,	,		8301	0.002		0.0	False		,,,				2504	0.001				p.S163C		Atlas-SNP	.											KRTAP5-1,NS,carcinoma,0,1	KRTAP5-1	74	1	0			c.C488G						scavenged	.						69	84	79					11																	1605992		2202	4299	6501	SO:0001583	missense	387264	exon1			CCCTTGGAGCACC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.488C>G	11.37:g.1605992G>C	ENSP00000371606:p.Ser163Cys	Somatic	54	2	0.037037		WXS	Illumina HiSeq	Phase_I	67	7	0.104478	NM_001005922		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	2.030	-0.422638	0.04734	.	.	ENSG00000205869	ENST00000382171	T	0.04809	3.55	3.69	-5.66	0.02451	.	.	.	.	.	T	0.04588	0.0125	N	0.25992	0.78	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30736	-0.9968	9	0.62326	D	0.03	.	17.1666	0.86818	0.0:0.7049:0.2951:0.0	rs60899198	163	Q6L8H4	KRA51_HUMAN	C	163	ENSP00000371606:S163C	ENSP00000371606:S163C	S	-	2	0	KRTAP5-1	1562568	0.000000	0.05858	0.150000	0.22450	0.017000	0.09413	-1.717000	0.01876	-1.045000	0.03250	-0.974000	0.02594	TCC	G|0.500;C|0.500	0.500	weak		0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		C	1605992	G	C	1605992	3	2	6	1	0	0	0	0	1	0	0	0	8558	1174	41	4	352	4	KRTAP5-1	11	1605992	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	345753	1605992	133400524	73	1276	27	2								
KRTAP5-1	387264	hgsc.bcm.edu	37	chr11	1605996	1605996	+	Missense_Mutation	SNP	A	A	C													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	accacaggcccccttggagcAcccacaggagccacagcccc					rs576032555	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:1605996A>C	ENST00000382171.2	-	1	517	c.484T>G	c.(484-486)Tgc>Ggc	p.C162G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	162	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCTTGGAGCACCCACAGGAG	0.652													a|||	20	0.00399361	0.0015	0.0014	5008	,	,		7787	0.002		0.002	False		,,,				2504	0.0133				p.C162G		Atlas-SNP	.											KRTAP5-1,NS,carcinoma,0,2	KRTAP5-1	74	2	0			c.T484G						scavenged	.						73	89	83					11																	1605996		2202	4299	6501	SO:0001583	missense	387264	exon1			TGGAGCACCCACA	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.484T>G	11.37:g.1605996A>C	ENSP00000371606:p.Cys162Gly	Somatic	55	2	0.0363636		WXS	Illumina HiSeq	Phase_I	70	7	0.1	NM_001005922		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	0.664	-0.804452	0.02819	.	.	ENSG00000205869	ENST00000382171	T	0.03772	3.81	3.45	-0.721	0.11189	.	.	.	.	.	T	0.01940	0.0061	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.72032	D	0.01	.	7.1539	0.25626	0.6345:0.2696:0.0:0.0958	.	162	Q6L8H4	KRA51_HUMAN	G	162	ENSP00000371606:C162G	ENSP00000371606:C162G	C	-	1	0	KRTAP5-1	1562572	0.000000	0.05858	0.033000	0.17914	0.010000	0.07245	-0.881000	0.04179	-0.557000	0.06126	-3.103000	0.00063	TGC	.	.	none		0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		C	1605996	A	C	1605996	3	2	6	1	0	0	0	0	1	0	0	0	8558	159	6	5	356	5	KRTAP5-1	11	1605996	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	4	1605996	133400520	74	1277	27	2								
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	265	8	0.0301887		WXS	Illumina HiSeq	Phase_I	251	8	0.0318725	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	6	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	3002397	4608393	130398123	75	1278										
FOLH1	2346	hgsc.bcm.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	caacagcctctgcaattccaCgcctataagcatattctgaa	5	13	2	1	rs116795343	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																					p.R281H		Atlas-SNP	.											FOLH1,NS,carcinoma,-1,2	FOLH1	141	2	1	Substitution - Missense(1)	lung(1)	c.G842A						scavenged	.						72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346	exon7			ATTCCACGCCTAT	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His	Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	137	7	0.0510949	NM_004476	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	C|0.974;T|0.026	0.026	strong		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	6	1	0	0	0	0	1	0	0	0	5979	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	44596386	49204779	85801737	76	1279										
FGF3	2248	hgsc.bcm.edu	37	chr11	69625283	69625283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agggaggacttctgtgtgcgGcgggtcttgaagcccctgcg	17	10	2	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:69625283G>A	ENST00000334134.2	-	3	600	c.510C>T	c.(508-510)cgC>cgT	p.R170R		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	170					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.R170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TCTGTGTGCGGCGGGTCTTGA	0.682																																					p.R170R		Atlas-SNP	.											FGF3,NS,carcinoma,0,1	FGF3	27	1	1	Substitution - coding silent(1)	ovary(1)	c.C510T						PASS	.						21	24	23					11																	69625283		2193	4270	6463	SO:0001819	synonymous_variant	2248	exon3			TGTGCGGCGGGTC		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.510C>T	11.37:g.69625283G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	99	7	0.0707071	NM_005247	Q0VG69	Silent	SNP	ENST00000334134.2	37	CCDS8195.1																																																																																			.	.	none		0.682	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		A	69625283	G	A	69625283	2	1	6	1	0	0	0	0	0	0	0	1	5853	1190	42	2		2	FGF3	11	69625283	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	20420504	69625283	65381233	77	1280										
SERPINH1	871	hgsc.bcm.edu	37	chr11	75277917	75277917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gcgcgctgcagtccatcaacGagtgggccgcgcagaccacc	13	16	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:75277917G>A	ENST00000524558.1	+	2	1958	c.523G>A	c.(523-525)Gag>Aag	p.E175K	SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.E175K|SERPINH1_ENST00000533603.1_Missense_Mutation_p.E175K|SERPINH1_ENST00000358171.3_Missense_Mutation_p.E175K			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	175					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTCCATCAACGAGTGGGCCGC	0.627																																					p.E175K		Atlas-SNP	.											.	SERPINH1	33	.	0			c.G523A						PASS	.						42	43	43					11																	75277917		2200	4293	6493	SO:0001583	missense	871	exon2			ATCAACGAGTGGG	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.523G>A	11.37:g.75277917G>A	ENSP00000434412:p.Glu175Lys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	58	22	0.37931	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694570	0.88830	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000525492;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	D;D;D;T;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-0.84;-2.26;-2.26;-2.26;-2.26;-2.26	4.66	4.66	0.58398	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	L	0.32530	0.975	0.80722	D	1	D;D	0.63880	0.988;0.993	P;P	0.56216	0.752;0.794	D	0.86178	0.1604	10	0.34782	T	0.22	.	15.0624	0.71964	0.0:0.0:1.0:0.0	.	175;175	E9PPV6;P50454	.;SERPH_HUMAN	K	175;175;175;154;128;175;175;175;175;175	ENSP00000434657:E175K;ENSP00000350894:E175K;ENSP00000434964:E175K;ENSP00000434482:E128K;ENSP00000436305:E175K;ENSP00000436040:E175K;ENSP00000434412:E175K;ENSP00000435452:E175K;ENSP00000437108:E175K	ENSP00000350894:E175K	E	+	1	0	SERPINH1	74955565	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.850000	0.86915	2.140000	0.66376	0.563000	0.77884	GAG	.	.	none		0.627	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		A	75277917	G	A	75277917	3	1	6	1	0	0	0	0	1	0	0	0	14117	1059	37	1	525	1	SERPINH1	11	75277917	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	5652634	75277917	59728599	78	1281										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78516504	78516504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	attcgcctctcacgcagacaCcccggcctgaacatgtgggg	11	15	1	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:78516504C>A	ENST00000278550.7	-	15	2474	c.2012G>T	c.(2011-2013)gGt>gTt	p.G671V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	671	EGF-like 4. {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)										CACGCAGACACCCCGGCCTGA	0.572																																					p.G671V		Atlas-SNP	.											.	.	.	.	0			c.G2012T						PASS	.						34	39	37					11																	78516504		2136	4245	6381	SO:0001583	missense	26011	exon15			CAGACACCCCGGC	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.2012G>T	11.37:g.78516504C>A	ENSP00000278550:p.Gly671Val	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	24	11	0.458333	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929751	0.92389	.	.	ENSG00000149256	ENST00000278550	T	0.14516	2.5	5.1	5.1	0.69264	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74654	-0.3593	9	.	.	.	.	18.7262	0.91714	0.0:1.0:0.0:0.0	.	671	Q6N022	TEN4_HUMAN	V	671	ENSP00000278550:G671V	.	G	-	2	0	ODZ4	78194152	1.000000	0.71417	0.980000	0.43619	0.958000	0.62258	7.651000	0.83577	2.644000	0.89710	0.563000	0.77884	GGT	.	.	none		0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78516504	C	A	78516504	3	1	6	1	0	0	0	0	1	0	0	0	10837	507	18	4	6377	4	ODZ4	11	78516504	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	3238587	78516504	56490012	79	1282										
ANKK1	255239	hgsc.bcm.edu	37	chr11	113264381	113264381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tctgctggaagctcaggttcCgcatcatccatgagaccagc	10	13	3	1	rs370146394		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:113264381C>T	ENST00000303941.3	+	2	458	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs35877321). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCTCAGGTTCCGCATCATCCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18780	0.0		0.0	False		,,,				2504	0.001				p.R122C		Atlas-SNP	.											ANKK1,NS,carcinoma,0,1	ANKK1	83	1	0			c.C364T						PASS	.	C	CYS/ARG	1,4287		0,1,2143	56	59	58		364	0.9	0.2	11		58	1,8545		0,1,4272	no	missense	ANKK1	NM_178510.1	180	0,2,6415	TT,TC,CC		0.0117,0.0233,0.0156	probably-damaging	122/766	113264381	2,12832	2144	4273	6417	SO:0001583	missense	255239	exon2			AGGTTCCGCATCA	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.364C>T	11.37:g.113264381C>T	ENSP00000306678:p.Arg122Cys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	81	27	0.333333	NM_178510		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129502	0.21041	2.33E-4	1.17E-4	ENSG00000170209	ENST00000303941	D	0.83075	-1.68	4.84	0.896	0.19253	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.234553	0.29172	N	0.012939	T	0.80939	0.4720	M	0.84511	2.7	0.49299	D	0.999779	B	0.15930	0.015	B	0.19148	0.024	T	0.72567	-0.4254	10	0.54805	T	0.06	-4.813	5.6091	0.17396	0.1376:0.6401:0.0:0.2223	.	122	Q8NFD2	ANKK1_HUMAN	C	122	ENSP00000306678:R122C	ENSP00000306678:R122C	R	+	1	0	ANKK1	112769591	0.939000	0.31865	0.191000	0.23289	0.100000	0.18952	0.838000	0.27572	0.006000	0.14734	-0.379000	0.06801	CGC	.	.	weak		0.582	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113264381	C	T	113264381	3	4	6	1	0	0	0	0	1	0	0	0	631	652	23	1	370	1	ANKK1	11	113264381	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	34747877	113264381	21742135	80	1283										
TRIM29	23650	hgsc.bcm.edu	37	chr11	120008144	120008144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cgccctccaggtggggcttgAgatgcagctcgcagaaggag	16	11	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr11:120008144A>G	ENST00000341846.5	-	1	1017	c.596T>C	c.(595-597)cTc>cCc	p.L199P		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	199					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGGGGCTTGAGATGCAGCTC	0.652																																					p.L199P		Atlas-SNP	.											.	TRIM29	78	.	0			c.T596C						PASS	.						33	34	34					11																	120008144		2203	4300	6503	SO:0001583	missense	23650	exon1			GGCTTGAGATGCA	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.596T>C	11.37:g.120008144A>G	ENSP00000343129:p.Leu199Pro	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	26	14	0.538462	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773588	0.90108	.	.	ENSG00000137699	ENST00000341846	T	0.55760	0.5	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000007	T	0.79522	0.4460	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84585	0.0663	9	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	199	Q14134	TRI29_HUMAN	P	199	ENSP00000343129:L199P	.	L	-	2	0	TRIM29	119513354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.326000	0.96389	2.254000	0.74563	0.533000	0.62120	CTC	.	.	none		0.652	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		G	120008144	A	G	120008144	3	3	6	1	0	0	0	0	1	0	0	0	16500	304	11	3	1206	3	TRIM29	11	120008144	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	6743763	120008144	14998372	81	1284										
VWF	7450	hgsc.bcm.edu	37	chr12	6076733	6076733	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	acctgcaccatgcagcggcaGgtcgtgcacacatcgatcat	10	14	1	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:6076733G>T	ENST00000261405.5	-	47	8060	c.7806C>A	c.(7804-7806)acC>acA	p.T2602T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2602	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCAGCGGCAGGTCGTGCACA	0.627																																					p.T2602T		Atlas-SNP	.											.	VWF	338	.	0			c.C7806A						PASS	.						147	136	139					12																	6076733		2203	4300	6503	SO:0001819	synonymous_variant	7450	exon47			GCGGCAGGTCGTG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7806C>A	12.37:g.6076733G>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	31	18	0.580645	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																			.	.	none		0.627	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6076733	G	T	6076733	2	4	6	1	0	0	0	0	0	0	0	1	17243	987	35	4		4	VWF	12	6076733	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		6076733	127775162	82	1285										
NOP2	4839	hgsc.bcm.edu	37	chr12	6672843	6672843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atccacattgatctgcaggcCcccatctgcctcttccacct	5	18	3	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:6672843C>T	ENST00000322166.5	-	7	746	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.G242S|NOP2_ENST00000545200.1_Missense_Mutation_p.G205S|NOP2_ENST00000399466.2_Missense_Mutation_p.G205S|NOP2_ENST00000541778.1_Missense_Mutation_p.G205S|NOP2_ENST00000537442.1_Missense_Mutation_p.G209S	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	209					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCTGCAGGCCCCCATCTGCC	0.562											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G242S		Atlas-SNP	.											.	NOP2	44	.	0			c.G724A						PASS	.						46	49	48					12																	6672843		1952	4122	6074	SO:0001583	missense	4839	exon8			GCAGGCCCCCATC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.625G>A	12.37:g.6672843C>T	ENSP00000313272:p.Gly209Ser	Somatic	71	0	0	635	WXS	Illumina HiSeq	Phase_I	68	27	0.397059	NM_001258309	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619302	0.28801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867	T;T;T;T;T;T;T;T	0.41400	2.53;2.56;2.57;2.53;2.53;2.53;1.0;1.0	5.71	3.86	0.44501	.	0.749013	0.13235	N	0.403359	T	0.27866	0.0686	L	0.33485	1.01	0.22354	N	0.999173	B;B	0.16603	0.01;0.018	B;B	0.12837	0.005;0.008	T	0.20538	-1.0272	10	0.14252	T	0.57	-1.761	6.8458	0.23987	0.0:0.6965:0.1459:0.1576	.	242;205	Q3KQS4;P46087-2	.;.	S	209;242;205;205;209;205;85;205	ENSP00000444437:G209S;ENSP00000371858:G242S;ENSP00000439422:G205S;ENSP00000382392:G205S;ENSP00000313272:G209S;ENSP00000443150:G205S;ENSP00000440754:G85S;ENSP00000443035:G205S	ENSP00000313272:G209S	G	-	1	0	NOP2	6543104	0.000000	0.05858	0.073000	0.20177	0.978000	0.69477	0.508000	0.22692	1.395000	0.46643	0.462000	0.41574	GGC	.	.	none		0.562	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		T	6672843	C	T	6672843	3	4	6	1	0	0	0	0	1	0	0	0	10538	623	22	2	1853	2	NOP2	12	6672843	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	596110	6672843	127179052	83	1286										
PRB3	5544	hgsc.bcm.edu	37	chr12	11420773	11420773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gtccttctggctttcccggaCgaggcgggggaccttgggac	16	12	1	0	rs200940772		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:11420773C>T	ENST00000279573.7	-	3	545	c.410G>A	c.(409-411)cGt>cAt	p.R137H	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.R137H|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	137	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> H (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGCGGGGG	0.642																																					p.R137H		Atlas-SNP	.											PRB3,NS,carcinoma,0,2	PRB3	84	2	0			c.G410A						scavenged	.						26	28	27					12																	11420773		1477	3379	4856	SO:0001583	missense	5544	exon3			CCCGGACGAGGCG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.410G>A	12.37:g.11420773C>T	ENSP00000279573:p.Arg137His	Somatic	68	3	0.0441176		WXS	Illumina HiSeq	Phase_I	90	9	0.1	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	0.011	-1.697568	0.00725	.	.	ENSG00000197870	ENST00000381842	T	0.04917	3.53	0.707	-1.41	0.08941	.	21.670500	0.01603	N	0.022149	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38650	-0.9651	9	0.41790	T	0.15	.	4.061	0.09839	0.0:0.1851:0.2048:0.6101	.	137	Q04118	PRB3_HUMAN	H	137	ENSP00000371264:R137H	ENSP00000279573:R137H	R	-	2	0	PRB3	11312040	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.782000	0.04643	-2.300000	0.00658	-1.404000	0.01136	CGT	C|0.998;T|0.002	0.002	weak		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11420773	C	T	11420773	3	4	6	1	0	0	0	0	1	0	0	0	12444	536	19	1	527	1	PRB3	12	11420773	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	4747930	11420773	122431122	84	1287										
ETV6	2120	hgsc.bcm.edu	37	chr12	11803094	11803094	+	Splice_Site	SNP	G	G	C													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cctgctcagtgtagcattaaGgtaaaaatcttctcccctcc					rs547638904		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:11803094G>C	ENST00000396373.4	+	1	307	c.33G>C	c.(31-33)aaG>aaC	p.K11N	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	11		Breakpoint for translocation to form CHIC2-ETV6 in AML.			cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GTAGCATTAAGGTAAAAATCT	0.537			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																p.K11N		Atlas-SNP	.		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	.	ETV6	91	.	0			c.G33C						PASS	.						136	133	134					12																	11803094		2203	4300	6503	SO:0001630	splice_region_variant	2120	exon1			CATTAAGGTAAAA	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.33+1G>C	12.37:g.11803094G>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	25	16	0.64	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995060	0.35226	.	.	ENSG00000139083	ENST00000396373	T	0.09255	3.0	4.11	3.2	0.36748	.	0.964265	0.08491	N	0.937964	T	0.07954	0.0199	L	0.27053	0.805	0.80722	D	1	B	0.23650	0.089	B	0.22152	0.038	T	0.24154	-1.0168	10	0.22706	T	0.39	.	6.7932	0.23711	0.1278:0.0:0.8722:0.0	.	11	P41212	ETV6_HUMAN	N	11	ENSP00000379658:K11N	ENSP00000379658:K11N	K	+	3	2	ETV6	11694361	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.784000	0.55416	1.832000	0.53329	0.491000	0.48974	AAG	.	.	none		0.537	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	Missense_Mutation	C	11803094	G	C	11803094	5	2	6	1	0	0	0	0	0	0	1	0	5283	1014	35	4	35	4	ETV6	12	11803094	Splice_Site	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	382321	11803094	122048801	85	1288	28	2								
ETV6	2120	hgsc.bcm.edu	37	chr12	11803095	11803095	+	Splice_Site	SNP	G	G	A													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctgctcagtgtagcattaagGtaaaaatcttctcccctcct							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:11803095G>A	ENST00000396373.4	+	1	307		c.e1+1		ETV6_ENST00000544715.1_Splice_Site	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TAGCATTAAGGTAAAAATCTT	0.532			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																.		Atlas-SNP	.		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	.	ETV6	91	.	0			c.33+1G>A						PASS	.						137	133	134					12																	11803095		2203	4300	6503	SO:0001630	splice_region_variant	2120	exon1			ATTAAGGTAAAAA	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.33+1G>A	12.37:g.11803095G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	26	16	0.615385	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Splice_Site	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561598	0.45590	.	.	ENSG00000139083	ENST00000396373	.	.	.	4.11	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7932	0.23711	0.1278:0.0:0.8722:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ETV6	11694362	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	3.784000	0.55416	1.832000	0.53329	0.491000	0.48974	.	.	.	none		0.532	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	Intron	A	11803095	G	A	11803095	5	1	6	1	0	0	0	0	0	0	1	0	5283	1275	44	2	36	2	ETV6	12	11803095	Splice_Site	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	1	11803095	122048800	86	1289	28	2								
PDE3A	5139	hgsc.bcm.edu	37	chr12	20522715	20522715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ggctgtcgcgctgctggccgCctgctgcgggggggaagcgc	20	13	0	0	rs532703635		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:20522715C>T	ENST00000359062.3	+	1	537	c.497C>T	c.(496-498)gCc>gTc	p.A166V	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	166					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCTGGCCGCCTGCTGCGGG	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12966	0.0		0.0	False		,,,				2504	0.0				p.A166V		Atlas-SNP	.											.	PDE3A	184	.	0			c.C497T						PASS	.						14	18	17					12																	20522715		2086	4148	6234	SO:0001583	missense	5139	exon1			TGGCCGCCTGCTG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.497C>T	12.37:g.20522715C>T	ENSP00000351957:p.Ala166Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	104	35	0.336538	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076391	0.36662	.	.	ENSG00000172572	ENST00000359062	T	0.62941	-0.01	5.21	3.38	0.38709	.	1.056470	0.07230	N	0.862436	T	0.43612	0.1255	N	0.12182	0.205	0.32681	N	0.515452	B	0.06786	0.001	B	0.06405	0.002	T	0.47522	-0.9111	10	0.41790	T	0.15	.	6.6969	0.23203	0.0:0.6939:0.1471:0.159	.	166	Q14432	PDE3A_HUMAN	V	166	ENSP00000351957:A166V	ENSP00000351957:A166V	A	+	2	0	PDE3A	20413982	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.008000	0.40893	1.196000	0.43129	0.555000	0.69702	GCC	.	.	none		0.692	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20522715	C	T	20522715	3	4	6	1	0	0	0	0	1	0	0	0	11637	739	26	2	499	2	PDE3A	12	20522715	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	8719620	20522715	113329180	87	1290										
PDE3A	5139	hgsc.bcm.edu	37	chr12	20787928	20787928	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagatgaaacagagtgcctgAgagagcctctgaggaaagca	13	7	1	6			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:20787928A>T	ENST00000359062.3	+	8	1979	c.1939A>T	c.(1939-1941)Aga>Tga	p.R647*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	647					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAGTGCCTGAGAGAGCCTCT	0.428																																					p.R647X		Atlas-SNP	.											.	PDE3A	184	.	0			c.A1939T						PASS	.						141	120	127					12																	20787928		2203	4300	6503	SO:0001587	stop_gained	5139	exon8			TGCCTGAGAGAGC		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1939A>T	12.37:g.20787928A>T	ENSP00000351957:p.Arg647*	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	63	21	0.333333	NM_000921	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	35	5.494917	0.96339	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.64	3.24	0.37175	.	1.494490	0.03493	N	0.216863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	8.1704	0.31252	0.7944:0.1351:0.0705:0.0	.	.	.	.	X	647	.	ENSP00000351957:R647X	R	+	1	2	PDE3A	20679195	0.968000	0.33430	0.004000	0.12327	0.015000	0.08874	2.527000	0.45615	0.405000	0.25532	0.528000	0.53228	AGA	.	.	none		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20787928	A	T	20787928	4	4	6	1	0	0	0	0	0	1	0	0	11637	296	11	5	1969	5	PDE3A	12	20787928	Nonsense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	265213	20787928	113063967	88	1291										
LRRK2	120892	hgsc.bcm.edu	37	chr12	40704416	40704416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctgatgctttggcaaaacttCggaaaaccatcataaacgag	8	9	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:40704416C>T	ENST00000298910.7	+	31	4559	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1501	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCAAAACTTCGGAAAACCAT	0.408																																					p.R1501W		Atlas-SNP	.											LRRK2_ENST00000298910,NS,carcinoma,0,3	LRRK2	763	3	0			c.C4501T						PASS	.						167	164	165					12																	40704416		2203	4300	6503	SO:0001583	missense	120892	exon31			AAACTTCGGAAAA	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4501C>T	12.37:g.40704416C>T	ENSP00000298910:p.Arg1501Trp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	101	5	0.049505	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623937	0.87460	.	.	ENSG00000188906	ENST00000298910	T	0.75367	-0.93	5.53	4.63	0.57726	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86135	0.1577	10	0.72032	D	0.01	.	14.7522	0.69533	0.0:0.9292:0.0:0.0708	.	1501;1501	Q17RV3;Q5S007	.;LRRK2_HUMAN	W	1501	ENSP00000298910:R1501W	ENSP00000298910:R1501W	R	+	1	2	LRRK2	38990683	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.294000	0.59043	2.597000	0.87782	0.650000	0.86243	CGG	.	.	none		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40704416	C	T	40704416	3	4	6	1	0	0	0	0	1	0	0	0	9033	875	31	1	4623	1	LRRK2	12	40704416	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	19916488	40704416	93147479	89	1292										
MLL2	8085	hgsc.bcm.edu	37	chr12	49426385	49426388	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gggcccctcagtggcctctgAagaaacggctgggtctacgg							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	AAGA	AAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:49426385_49426388delAAGA	ENST00000301067.7	-	39	12099_12102	c.12100_12103delTCTT	c.(12100-12105)tcttcafs	p.SS4034fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4034	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGCCTCTGAAGAAACGGCTGGG	0.569																																					p.4034_4035del		Pindel,Atlas-Indel	.											.	MLL2	1173	.	0			c.12101_12104del						PASS	.																																			SO:0001589	frameshift_variant	8085	exon39			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12100_12103delTCTT	12.37:g.49426385_49426388delAAGA	ENSP00000301067:p.Ser4034fs	Somatic	153	.	.		WXS	Illumina HiSeq	Phase_I	71	34	0.479	NM_003482	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.569	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49426388	AAGA	-	49426385	7	5	6	1	0	1	0	1	0	0	0	0	9621	246	9	0	4574	0	MLL2	12	49426385	Frame_Shift_Del	DEL	AAGA	TCGA-FA-A7DS-01A-11D-A382-10	8721969	49426385	84425510	90	1293										
KRT6A	3853	hgsc.bcm.edu	37	chr12	52886934	52886934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gcactgaaaccccggcggctGctgctgtggctcctgatggt	14	13	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:52886934G>T	ENST00000330722.6	-	1	107	c.39C>A	c.(37-39)agC>agA	p.S13R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	13	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCGGCGGCTGCTGCTGTGGC	0.642																																					p.S13R		Atlas-SNP	.											.	KRT6A	89	.	0			c.C39A						PASS	.						17	21	20					12																	52886934		2153	4212	6365	SO:0001583	missense	3853	exon1			GCGGCTGCTGCTG	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.39C>A	12.37:g.52886934G>T	ENSP00000369317:p.Ser13Arg	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	136	31	0.227941	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081166	0.36758	.	.	ENSG00000205420	ENST00000330722	T	0.58940	0.3	4.68	2.81	0.32909	.	0.556998	0.17430	N	0.174498	T	0.39572	0.1083	N	0.25380	0.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.49607	T	0.09	.	5.6256	0.17480	0.2612:0.1981:0.5407:0.0	.	13	P02538	K2C6A_HUMAN	R	13	ENSP00000369317:S13R	ENSP00000369317:S13R	S	-	3	2	KRT6A	51173201	0.000000	0.05858	0.903000	0.35520	0.870000	0.49936	-0.124000	0.10595	1.140000	0.42260	0.549000	0.68633	AGC	.	.	none		0.642	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52886934	G	T	52886934	3	4	6	1	0	0	0	0	1	0	0	0	8480	1310	46	4	1691	4	KRT6A	12	52886934	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	3460549	52886934	80964961	91	1294										
KRT3	3850	hgsc.bcm.edu	37	chr12	53185490	53185490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cccacctgcttcttgacaccCtcgatctctgcccgcagcct	6	20	2	1	rs369576134		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr12:53185490C>T	ENST00000417996.2	-	6	1373	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	KRT3_ENST00000309505.3_Silent_p.E433E	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	433	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTTGACACCCTCGATCTCTG	0.567																																					p.E433E		Atlas-SNP	.											.	KRT3	65	.	0			c.G1299A						PASS	.	C		0,4404		0,0,2202	107	108	108		1299	4	0.5	12		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT3	NM_057088.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		433/629	53185490	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	3850	exon6			GACACCCTCGATC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1299G>A	12.37:g.53185490C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	178	99	0.55618	NM_057088	A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	CCDS44895.1																																																																																			.	.	weak		0.567	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53185490	C	T	53185490	2	4	6	1	0	0	0	0	0	0	0	1	8466	680	24	2		2	KRT3	12	53185490	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	298556	53185490	80666405	92	1295										
FAM124A	220108	hgsc.bcm.edu	37	chr13	51855115	51855115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagatgcagcagccactgggCagctcacaaggattccaggg	13	11	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr13:51855115C>A	ENST00000322475.8	+	4	1499	c.1364C>A	c.(1363-1365)gCa>gAa	p.A455E	FAM124A_ENST00000280057.6_Missense_Mutation_p.A491E	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	455										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCCACTGGGCAGCTCACAAG	0.587																																					p.A491E		Atlas-SNP	.											.	FAM124A	61	.	0			c.C1472A						PASS	.						56	54	54					13																	51855115		2203	4300	6503	SO:0001583	missense	220108	exon5			ACTGGGCAGCTCA	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1364C>A	13.37:g.51855115C>A	ENSP00000324625:p.Ala455Glu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	55	22	0.4	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507667	0.27036	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.47528	0.86;0.84	5.07	1.23	0.21249	.	2.466230	0.01371	N	0.012590	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.27732	0.0;0.187	B;B	0.25140	0.002;0.058	T	0.23511	-1.0186	10	0.02654	T	1	-11.5191	3.6365	0.08151	0.2691:0.3909:0.2621:0.078	.	455;491	Q86V42;Q86V42-2	F124A_HUMAN;.	E	455;491	ENSP00000324625:A455E;ENSP00000280057:A491E	ENSP00000280057:A491E	A	+	2	0	FAM124A	50753116	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.530000	0.36007	-0.100000	0.12241	-0.188000	0.12872	GCA	.	.	none		0.587	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		A	51855115	C	A	51855115	3	1	6	1	0	0	0	0	1	0	0	0	5425	710	25	4	1490	4	FAM124A	13	51855115	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10		51855115	63314763	93	1296										
OR4K5	79317	hgsc.bcm.edu	37	chr14	20388876	20388876	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ttctctgtgttgtatacagtCattgtgctgggaaatcttct	9	7	4	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr14:20388876C>A	ENST00000315915.4	+	1	136	c.111C>A	c.(109-111)gtC>gtA	p.V37V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTATACAGTCATTGTGCTGG	0.408																																					p.V37V		Atlas-SNP	.											OR4K5,NS,carcinoma,0,1	OR4K5	111	1	1	Substitution - coding silent(1)	lung(1)	c.C111A						PASS	.						202	210	207					14																	20388876		2203	4300	6503	SO:0001819	synonymous_variant	79317	exon1			TACAGTCATTGTG	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.111C>A	14.37:g.20388876C>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	177	56	0.316384	NM_001005483	Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																			.	.	none		0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		A	20388876	C	A	20388876	2	1	6	1	0	0	0	0	0	0	0	1	11073	813	29	4		4	OR4K5	14	20388876	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10		20388876	86960664	94	1297										
TMEM90A	646658	hgsc.bcm.edu	37	chr14	74874557	74874557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cccaggtgctcttaccccctGggagaagtagaaggcagcaa	12	12	1	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr14:74874557G>T	ENST00000554823.1	-	2	614	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.Q185K			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	185					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTTACCCCCTGGGAGAAGTAG	0.627																																					p.Q185K		Atlas-SNP	.											.	SYNDIG1L	24	.	0			c.C553A						PASS	.						69	77	74					14																	74874557		2203	4300	6503	SO:0001583	missense	646658	exon3			CCCCCTGGGAGAA		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.553C>A	14.37:g.74874557G>T	ENSP00000450439:p.Gln185Lys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	82	28	0.341463	NM_001105579		Missense_Mutation	SNP	ENST00000554823.1	37	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759026	0.69763	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.85556	-2.0;-2.0	4.85	4.85	0.62838	.	0.077405	0.56097	D	0.000040	D	0.88385	0.6422	L	0.35854	1.095	0.58432	D	0.999999	D	0.64830	0.994	D	0.64506	0.926	D	0.88933	0.3374	10	0.52906	T	0.07	-13.4894	18.1623	0.89712	0.0:0.0:1.0:0.0	.	185	A6NDD5	SYN1L_HUMAN	K	185	ENSP00000331474:Q185K;ENSP00000450439:Q185K	ENSP00000331474:Q185K	Q	-	1	0	SYNDIG1L	73944310	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.657000	0.98554	2.498000	0.84270	0.561000	0.74099	CAG	.	.	none		0.627	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		T	74874557	G	T	74874557	3	4	6	1	0	0	0	0	1	0	0	0	16215	1357	47	4	171	4	TMEM90A	14	74874557	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	54485681	74874557	32474983	95	1298										
SECISBP2L	9728	hgsc.bcm.edu	37	chr15	49338480	49338480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	caaacccgcgtacctgctccGtgggggctcggtccatggtg	14	14	0	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr15:49338480G>A	ENST00000559471.1	-	1	280	c.17C>T	c.(16-18)aCg>aTg	p.T6M	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T6M	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	6							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TACCTGCTCCGTGGGGGCTCG	0.731																																					p.T6M		Atlas-SNP	.											.	SECISBP2L	118	.	0			c.C17T						PASS	.						6	9	8					15																	49338480		2064	4063	6127	SO:0001583	missense	9728	exon1			TGCTCCGTGGGGG	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.17C>T	15.37:g.49338480G>A	ENSP00000453854:p.Thr6Met	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	134	42	0.313433	NM_001193489	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305656	0.23736	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72725	-0.68	4.77	2.78	0.32641	.	1.298010	0.04854	N	0.442829	T	0.54581	0.1867	N	0.08118	0	0.09310	N	1	B;B	0.30914	0.199;0.3	B;B	0.28011	0.039;0.085	T	0.51903	-0.8646	10	0.72032	D	0.01	.	11.1726	0.48579	0.0:0.3605:0.6395:0.0	.	6;6	Q93073;Q93073-2	SBP2L_HUMAN;.	M	6	ENSP00000261847:T6M	ENSP00000261847:T6M	T	-	2	0	SECISBP2L	47125772	0.492000	0.26027	0.023000	0.16930	0.141000	0.21300	2.234000	0.43035	0.660000	0.30964	0.655000	0.94253	ACG	.	.	none		0.731	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		A	49338480	G	A	49338480	3	1	6	1	0	0	0	0	1	0	0	0	14007	1145	40	1	3221	1	SECISBP2L	15	49338480	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		49338480	53192912	96	1299										
AAGAB	79719	hgsc.bcm.edu	37	chr15	67528329	67528329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	acacttaccatcctcctcagGcaactcctctggactaagtt	5	15	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr15:67528329G>A	ENST00000261880.5	-	4	543	c.439C>T	c.(439-441)Cct>Tct	p.P147S	AAGAB_ENST00000561452.1_Missense_Mutation_p.P38S|AAGAB_ENST00000542650.1_Missense_Mutation_p.P38S	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	147					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCCTCCTCAGGCAACTCCTCT	0.353																																					p.P147S		Atlas-SNP	.											.	AAGAB	24	.	0			c.C439T						PASS	.						173	151	158					15																	67528329		1865	4113	5978	SO:0001583	missense	79719	exon4			CCTCAGGCAACTC	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.439C>T	15.37:g.67528329G>A	ENSP00000261880:p.Pro147Ser	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	143	42	0.293706	NM_024666	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425846	0.83667	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.42900	0.96;0.98	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.52573	1.65	0.80722	D	1	P	0.49862	0.929	P	0.46389	0.515	T	0.30090	-0.9990	10	0.05525	T	0.97	-18.439	19.702	0.96059	0.0:0.0:1.0:0.0	.	147	Q6PD74	AAGAB_HUMAN	S	147;38	ENSP00000261880:P147S;ENSP00000440735:P38S	ENSP00000261880:P147S	P	-	1	0	AAGAB	65315383	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.055000	0.93873	2.738000	0.93877	0.591000	0.81541	CCT	.	.	none		0.353	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		A	67528329	G	A	67528329	3	1	6	1	0	0	0	0	1	0	0	0	15	1203	42	2	536	2	AAGAB	15	67528329	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	18189849	67528329	35003063	97	1300										
HCN4	10021	hgsc.bcm.edu	37	chr15	73617312	73617312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tcacctccaaagtaggagccGtcggccagcttggtctcctt	10	14	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr15:73617312G>A	ENST00000261917.3	-	6	2955	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	654					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTAGGAGCCGTCGGCCAGCT	0.617																																					p.D654D		Atlas-SNP	.											.	HCN4	150	.	0			c.C1962T						PASS	.						66	57	60					15																	73617312		2198	4297	6495	SO:0001819	synonymous_variant	10021	exon6			GGAGCCGTCGGCC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1962C>T	15.37:g.73617312G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	46	17	0.369565	NM_005477	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																			.	.	none		0.617	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		A	73617312	G	A	73617312	2	1	6	1	0	0	0	0	0	0	0	1	6999	1136	40	1		1	HCN4	15	73617312	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	6088983	73617312	28914080	98	1301										
BFAR	51283	hgsc.bcm.edu	37	chr16	14738262	14738262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccttgagagagatgaacctcTcaaaagcaccggccctcaga	9	13	2	4			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr16:14738262T>C	ENST00000261658.2	+	2	336	c.59T>C	c.(58-60)cTc>cCc	p.L20P	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.L20P|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	20					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GATGAACCTCTCAAAAGCACC	0.458																																					p.L20P		Atlas-SNP	.											.	BFAR	38	.	0			c.T59C						PASS	.						119	120	120					16																	14738262		2197	4300	6497	SO:0001583	missense	51283	exon2			AACCTCTCAAAAG	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.59T>C	16.37:g.14738262T>C	ENSP00000261658:p.Leu20Pro	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	107	33	0.308411	NM_016561	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233880	0.58886	.	.	ENSG00000103429	ENST00000261658	T	0.07688	3.17	5.91	2.28	0.28536	.	1.291620	0.04794	N	0.432159	T	0.07638	0.0192	L	0.29908	0.895	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.38090	-0.9677	10	0.87932	D	0	.	4.258	0.10726	0.1421:0.2437:0.0:0.6142	.	20;20;20	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	P	20	ENSP00000261658:L20P	ENSP00000261658:L20P	L	+	2	0	BFAR	14645763	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	0.786000	0.26844	0.498000	0.27948	0.533000	0.62120	CTC	.	.	none		0.458	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		C	14738262	T	C	14738262	3	2	6	1	0	0	0	0	1	0	0	0	1414	1551	54	3	61	3	BFAR	16	14738262	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		14738262	75616491	99	1302										
DHX38	9785	hgsc.bcm.edu	37	chr16	72137944	72137944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gagagtccctccgggaagccGacctggatcactacagtgcc	12	14	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr16:72137944G>A	ENST00000268482.3	+	14	2433	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	642	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGGGAAGCCGACCTGGATCA	0.582																																					p.D642N	Melanoma(97;711 1442 7855 13832 28836)	Atlas-SNP	.											DHX38,NS,carcinoma,0,1	DHX38	91	1	0			c.G1924A						PASS	.						117	104	108					16																	72137944		2198	4300	6498	SO:0001583	missense	9785	exon14			GAAGCCGACCTGG	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1924G>A	16.37:g.72137944G>A	ENSP00000268482:p.Asp642Asn	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	66	23	0.348485	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	36	5.786051	0.96937	.	.	ENSG00000140829	ENST00000268482	T	0.07688	3.17	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.114937	0.64402	D	0.000020	T	0.20700	0.0498	L	0.42529	1.33	0.80722	D	1	D	0.58620	0.983	P	0.58820	0.846	T	0.00063	-1.2154	10	0.51188	T	0.08	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	642	Q92620	PRP16_HUMAN	N	642	ENSP00000268482:D642N	ENSP00000268482:D642N	D	+	1	0	DHX38	70695445	1.000000	0.71417	0.967000	0.41034	0.915000	0.54546	7.954000	0.87848	2.733000	0.93635	0.655000	0.94253	GAC	.	.	none		0.582	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72137944	G	A	72137944	3	1	6	1	0	0	0	0	1	0	0	0	4511	1058	37	1	1974	1	DHX38	16	72137944	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	57399682	72137944	18216809	100	1303										
TMEM93	83460	hgsc.bcm.edu	37	chr17	3572623	3572623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tacctgctcgcctccgtcctGctctccctgctcctcattct	5	20	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr17:3572623G>A	ENST00000397133.2	+	2	423	c.183G>A	c.(181-183)ctG>ctA	p.L61L	P2RX5-TAX1BP3_ENST00000550383.1_3'UTR|EMC6_ENST00000248378.5_Silent_p.L61L|TAX1BP3_ENST00000225525.3_5'Flank	NM_001014764.1	NP_001014764.1	Q9BV81	EMC6_HUMAN	ER membrane protein complex subunit 6	61						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCTCCGTCCTGCTCTCCCTGC	0.607																																					p.L61L		Atlas-SNP	.											.	.	.	.	0			c.G183A						PASS	.						38	39	38					17																	3572623		2202	4300	6502	SO:0001819	synonymous_variant	83460	exon2			CGTCCTGCTCTCC		CCDS11033.1	17p13.2	2012-05-23	2012-05-23	2012-05-23		ENSG00000127774			28430	protein-coding gene	gene with protein product			"transmembrane protein 93"	TMEM93		22119785	Standard	NM_001014764		Approved	MGC2963	uc002fwg.1	Q9BV81		ENST00000397133.2:c.183G>A	17.37:g.3572623G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	116	39	0.336207	NM_001014764		Silent	SNP	ENST00000397133.2	37	CCDS11033.1																																																																																			.	.	none		0.607	EMC6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450159.1	NM_031298		A	3572623	G	A	3572623	2	1	6	1	0	0	0	0	0	0	0	1	16219	1306	46	2		2	TMEM93	17	3572623	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		3572623	77622587	101	1304										
TNS4	84951	hgsc.bcm.edu	37	chr17	38645133	38645133	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccaccactgcgaagggagccGaagggcggggtgacagaggg	19	10	0	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr17:38645133G>A	ENST00000254051.6	-	3	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	176	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAAGGGAGCCGAAGGGCGGGG	0.622																																					p.F176F		Atlas-SNP	.											.	TNS4	72	.	0			c.C528T						PASS	.						51	63	59					17																	38645133		2200	4299	6499	SO:0001819	synonymous_variant	84951	exon3			GGAGCCGAAGGGC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.528C>T	17.37:g.38645133G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	CCDS11368.1																																																																																			.	.	none		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		A	38645133	G	A	38645133	2	1	6	1	0	0	0	0	0	0	0	1	16342	1049	37	1		1	TNS4	17	38645133	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	35072510	38645133	42550077	102	1305										
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	11	16	0	0	rs556157666	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184				p.V46V		Atlas-SNP	.											KRTAP4-9,NS,carcinoma,0,1	KRTAP4-9	110	1	0			c.A138G						scavenged	.						15	22	20					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386	exon1			TTGTGTATCCAGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G		Somatic	23	1	0.0434783		WXS	Illumina HiSeq	Phase_I	26	5	0.192308	NM_001146041		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																			.	.	none		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		G	39261778	A	G	39261778	2	3	6	1	0	0	0	0	0	0	0	1	8557	436	16	2		2	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	616645	39261778	41933432	103	1306										
ANKFN1	162282	hgsc.bcm.edu	37	chr17	54403699	54403699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	acaacttgttcctctgctgcCtcgaacagcataaactggta	7	12	1	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr17:54403699C>T	ENST00000318698.2	+	3	215	c.180C>T	c.(178-180)gcC>gcT	p.A60A	ANKFN1_ENST00000566473.2_Silent_p.A60A	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	60										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCTCTGCTGCCTCGAACAGCA	0.373																																					p.A60A		Atlas-SNP	.											.	ANKFN1	115	.	0			c.C180T						PASS	.						132	119	123					17																	54403699		2203	4300	6503	SO:0001819	synonymous_variant	162282	exon3			TGCTGCCTCGAAC	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.180C>T	17.37:g.54403699C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	118	35	0.29661	NM_153228		Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																			.	.	none		0.373	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		T	54403699	C	T	54403699	2	4	6	1	0	0	0	0	0	0	0	1	625	668	24	2		2	ANKFN1	17	54403699	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	15141921	54403699	26791511	104	1307										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31324989	31324989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tatttccttggctaccgatgCcctgaagagagtccctggtg	11	11	0	2	rs369543627		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr18:31324989C>A	ENST00000269197.5	+	12	5177	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1726					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTACCGATGCCCTGAAGAGA	0.557																																					p.A1726D		Atlas-SNP	.											.	ASXL3	405	.	0			c.C5177A						PASS	.						73	76	75					18																	31324989		2031	4190	6221	SO:0001583	missense	80816	exon12			CCGATGCCCTGAA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5177C>A	18.37:g.31324989C>A	ENSP00000269197:p.Ala1726Asp	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	61	15	0.245902	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	3.427	-0.116888	0.06838	.	.	ENSG00000141431	ENST00000269197	T	0.14022	2.54	5.86	2.87	0.33458	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.33240	-0.9876	9	0.56958	D	0.05	.	10.7813	0.46379	0.431:0.4524:0.1166:0.0	.	1726	Q9C0F0	ASXL3_HUMAN	D	1726	ENSP00000269197:A1726D	ENSP00000269197:A1726D	A	+	2	0	ASXL3	29578987	0.378000	0.25114	0.916000	0.36221	0.018000	0.09664	1.299000	0.33424	0.249000	0.21456	0.655000	0.94253	GCC	.	.	alt		0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31324989	C	A	31324989	3	1	6	1	0	0	0	0	1	0	0	0	1068	739	26	4	5223	4	ASXL3	18	31324989	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10		31324989	46752259	105	1308										
MUC16	94025	hgsc.bcm.edu	37	chr19	8962366	8962366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	agacttaccagaattcccagTtaagggctcatttctgttgg	9	9	2	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:8962366T>G	ENST00000397910.4	-	82	43536	c.43333A>C	c.(43333-43335)Act>Cct	p.T14445P	MUC16_ENST00000380951.5_Missense_Mutation_p.T1086P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22090	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCCCAGTTAAGGGCTCA	0.473																																					p.T14445P		Atlas-SNP	.											.	MUC16	4315	.	0			c.A43333C						PASS	.						26	26	26					19																	8962366		1790	3970	5760	SO:0001583	missense	94025	exon82			TCCCAGTTAAGGG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43333A>C	19.37:g.8962366T>G	ENSP00000381008:p.Thr14445Pro	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	133	41	0.308271	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.69|11.69	1.715233|1.715233	0.30413|0.30413	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T|.	0.02103|.	4.45|.	3.79|3.79	1.64|1.64	0.23874|0.23874	.|.	.|.	.|.	.|.	.|.	T|.	0.47173|.	0.1431|.	M|M	0.66939|0.66939	2.045|2.045	.|.	.|.	.|.	P;D|.	0.69078|.	0.838;0.997|.	B;P|.	0.62184|.	0.367;0.899|.	T|.	0.52358|.	-0.8586|.	8|.	0.62326|.	D|.	0.03|.	.|.	3.1914|3.1914	0.06618|0.06618	0.2051:0.1125:0.0:0.6824|0.2051:0.1125:0.0:0.6824	.|.	22090;14445|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	P|Y	14445;1086|1267	ENSP00000381008:T14445P|.	ENSP00000370338:T1086P|.	T|X	-|-	1|3	0|2	MUC16|MUC16	8823366|8823366	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.011000|0.011000	0.07611|0.07611	0.642000|0.642000	0.24735|0.24735	0.284000|0.284000	0.22305|0.22305	0.454000|0.454000	0.30748|0.30748	ACT|TAA	.	.	none		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	8962366	T	G	8962366	3	3	6	1	0	0	0	0	1	0	0	0	9973	1725	60	5	202	5	MUC16	19	8962366	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		8962366	50166617	106	1309										
SLC44A2	57153	hgsc.bcm.edu	37	chr19	10738451	10738451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gctcctggccattgtgggctAcgtggctgtaggcatcatag	14	10	1	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:10738451A>C	ENST00000335757.5	+	3	516	c.140A>C	c.(139-141)tAc>tCc	p.Y47S	SLC44A2_ENST00000586078.1_Missense_Mutation_p.Y47S|SLC44A2_ENST00000407327.4_Missense_Mutation_p.Y45S			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	47					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATTGTGGGCTACGTGGCTGTA	0.592																																					p.Y47S		Atlas-SNP	.											.	SLC44A2	56	.	0			c.A140C						PASS	.						191	148	163					19																	10738451		2203	4300	6503	SO:0001583	missense	57153	exon3			TGGGCTACGTGGC	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.140A>C	19.37:g.10738451A>C	ENSP00000336888:p.Tyr47Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	86	26	0.302326	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321334	0.81580	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.42900	0.96;0.96	4.68	4.68	0.58851	.	0.136380	0.50627	D	0.000101	T	0.65544	0.2701	M	0.82923	2.615	0.58432	D	0.999995	D;D	0.62365	0.967;0.991	P;D	0.71184	0.852;0.972	T	0.71702	-0.4513	10	0.87932	D	0	.	13.2377	0.59979	1.0:0.0:0.0:0.0	.	47;45	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	S	45;47;47	ENSP00000385135:Y45S;ENSP00000336888:Y47S	ENSP00000336888:Y47S	Y	+	2	0	SLC44A2	10599451	1.000000	0.71417	0.967000	0.41034	0.911000	0.54048	8.419000	0.90253	1.957000	0.56846	0.379000	0.24179	TAC	.	.	none		0.592	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			C	10738451	A	C	10738451	3	2	6	1	0	0	0	0	1	0	0	0	14636	391	14	5	185	5	SLC44A2	19	10738451	Missense_Mutation	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	1776085	10738451	48390532	107	1310										
ZFP112	7771	hgsc.bcm.edu	37	chr19	44832834	44832834	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccattcccatgctccttacgTggtttctctccaatgtgaat	6	13	1	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:44832834T>A	ENST00000337401.4	-	5	1582	c.1494A>T	c.(1492-1494)ccA>ccT	p.P498P	ZNF112_ENST00000536500.1_Silent_p.P515P|ZNF112_ENST00000354340.4_Silent_p.P492P	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GCTCCTTACGTGGTTTCTCTC	0.403																																					p.P498P		Atlas-SNP	.											.	ZFP112	219	.	0			c.A1494T						PASS	.						134	130	132					19																	44832834		2203	4300	6503	SO:0001819	synonymous_variant	7771	exon5			CTTACGTGGTTTC	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.1494A>T	19.37:g.44832834T>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	138	46	0.333333	NM_001083335	A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	CCDS54276.1																																																																																			.	.	none		0.403	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		A	44832834	T	A	44832834	2	1	6	1	0	0	0	0	0	0	0	1	17635	1683	59	5		5	ZFP112	19	44832834	Silent	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	34094383	44832834	14296149	108	1311										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888042	52888042	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aatcatcatagaatgcacacGggagagcaaccttacaaatg	8	9	2	2	rs75507701	byFrequency	TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:52888042G>T	ENST00000422689.2	+	4	1224	c.1209G>T	c.(1207-1209)acG>acT	p.T403T		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	403					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAATGCACACGGGAGAGCAAC	0.403																																					p.T403T		Atlas-SNP	.											ZNF880,caecum,carcinoma,0,1	ZNF880	45	1	0			c.G1209T						scavenged	.						65	59	61					19																	52888042		1568	3582	5150	SO:0001819	synonymous_variant	400713	exon4			GCACACGGGAGAG	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1209G>T	19.37:g.52888042G>T		Somatic	19	2	0.105263		WXS	Illumina HiSeq	Phase_I	58	12	0.206897	NM_001145434	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																			G|0.910;T|0.090	0.090	strong		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		T	52888042	G	T	52888042	2	4	6	1	0	0	0	0	0	0	0	1	18194	1103	39	4		4	ZNF880	19	52888042	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	8055208	52888042	6240941	109	1312										
CACNG7	59284	hgsc.bcm.edu	37	chr19	54445378	54445378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cccggccttctaccgcccgcGtctcagcgactgctccgact	9	20	2	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:54445378G>A	ENST00000391767.1	+	6	871	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CACNG7_ENST00000222212.2_Missense_Mutation_p.R220H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	220				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACCGCCCGCGTCTCAGCGAC	0.687																																					p.R220H		Atlas-SNP	.											.	CACNG7	58	.	0			c.G659A						PASS	.						67	60	62					19																	54445378		2203	4300	6503	SO:0001583	missense	59284	exon5			GCCCGCGTCTCAG	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.659G>A	19.37:g.54445378G>A	ENSP00000375647:p.Arg220His	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	153	41	0.267974	NM_031896	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682057	0.88542	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.66995	-0.24;-0.24	4.18	1.96	0.26148	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62751	-0.6788	10	0.40728	T	0.16	-5.531	7.6938	0.28583	0.0953:0.1645:0.7402:0.0	.	220	P62955	CCG7_HUMAN	H	220	ENSP00000375647:R220H;ENSP00000222212:R220H	ENSP00000222212:R220H	R	+	2	0	CACNG7	59137190	1.000000	0.71417	0.738000	0.30950	0.997000	0.91878	9.011000	0.93618	0.343000	0.23821	0.491000	0.48974	CGT	.	.	none		0.687	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			A	54445378	G	A	54445378	3	1	6	1	0	0	0	0	1	0	0	0	2562	1145	40	1	677	1	CACNG7	19	54445378	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	1557336	54445378	4683605	110	1313										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	253	23	0.0909091	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	6	1	0	0	0	0	1	0	0	0	18173	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	3940412	58385790	743193	111	1314	29	3								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						PASS	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	231	23	0.0995671	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	6	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	8	58385798	743185	112	1315	29	3								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						PASS	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	227	23	0.101322	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	6	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	1	58385799	743184	113	1316	29	3								
UBASH3A	53347	hgsc.bcm.edu	37	chr21	43826425	43826436	+	In_Frame_Del	DEL	CGTTGGCAGCCA	CGTTGGCAGCCA	-													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	gctcttctgcaggctgaaagCgttggcagccacggggagga							TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	CGTTGGCAGCCA	CGTTGGCAGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr21:43826425_43826436delCGTTGGCAGCCA	ENST00000319294.6	+	2	153_164	c.122_133delCGTTGGCAGCCA	c.(121-135)gcgttggcagccacg>gcg	p.LAAT42del	UBASH3A_ENST00000450356.1_In_Frame_Del_p.LAAT42del|UBASH3A_ENST00000291535.6_In_Frame_Del_p.LAAT42del|UBASH3A_ENST00000398367.1_In_Frame_Del_p.LAAT42del	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	42	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A44V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGGCTGAAAGCGTTGGCAGCCACGGGGAGGAA	0.604																																					p.41_44del		Pindel,Atlas-Indel	.											.	UBASH3A	72	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.121_132del						PASS	.																																			SO:0001651	inframe_deletion	53347	exon2			.	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.122_133delCGTTGGCAGCCA	21.37:g.43826425_43826436delCGTTGGCAGCCA	ENSP00000317327:p.Leu42_Thr45del	Somatic	77	.	.		WXS	Illumina HiSeq	Phase_I	66	14	0.212	NM_018961	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	In_Frame_Del	DEL	ENST00000319294.6	37	CCDS13687.1																																																																																			.	.	none		0.604	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		-	43826436	CGTTGGCAGCCA	-	43826425	7	5	6	1	0	1	0	1	0	0	0	0	16836	768	27	0	128	0	UBASH3A	21	43826425	In_Frame_Del	DEL	CGTTGGCAGCCA	TCGA-FA-A7DS-01A-11D-A382-10		43826425	4303470	114	1317										
GGT1	2678	hgsc.bcm.edu	37	chr22	25016462	25016462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccctggaaaacaagcggaccGtcatcgagcagcagcctgtc	11	14	1	0	rs28621555		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr22:25016462G>A	ENST00000400382.1	+	8	1305	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	GGT1_ENST00000400383.1_Missense_Mutation_p.V184I|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.V184I|GGT1_ENST00000406383.2_Missense_Mutation_p.V184I|GGT1_ENST00000400380.1_Missense_Mutation_p.V184I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	184					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V184I(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAAGCGGACCGTCATCGAGCA	0.677																																					p.V184I		Atlas-SNP	.											GGT1,trunk,malignant_melanoma,0,1	GGT1	68	1	1	Substitution - Missense(1)	skin(1)	c.G550A						scavenged	.						22	25	24					22																	25016462		1896	4080	5976	SO:0001583	missense	2678	exon8			CGGACCGTCATCG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.550G>A	22.37:g.25016462G>A	ENSP00000383232:p.Val184Ile	Somatic	257	4	0.0155642		WXS	Illumina HiSeq	Phase_I	261	9	0.0344828	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	6.106	0.387793	0.11581	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3	3.35	-1.41	0.08941	.	1.035820	0.07685	N	0.937758	T	0.03263	0.0095	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.48636	-0.9018	10	0.18276	T	0.48	-41.0107	5.2692	0.15615	0.4418:0.0:0.4215:0.1367	.	184	P19440	GGT1_HUMAN	I	184	ENSP00000248923:V184I;ENSP00000393537:V184I;ENSP00000383232:V184I;ENSP00000383233:V184I;ENSP00000383231:V184I;ENSP00000385975:V184I	ENSP00000248923:V184I	V	+	1	0	GGT1	23346462	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.112000	0.03299	-0.232000	0.09811	0.455000	0.32223	GTC	.	.	weak		0.677	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25016462	G	A	25016462	3	1	6	1	0	0	0	0	1	0	0	0	6361	1145	40	1	564	1	GGT1	22	25016462	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10		25016462	26288104	115	1318										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ccaagtctccaacgaaggagGaagcaaagtcccctgagaag					rs370929798		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		Atlas-SNP	.											NEFH,rectum,carcinoma,-2,1	NEFH	178	1	0			c.G1933A						scavenged	.						82	88	86					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	40	12	0.3	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885562	G	A	29885562	3	1	6	1	0	0	0	0	1	0	0	0	10314	1175	41	2	1947	2	NEFH	22	29885562	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	4869100	29885562	21419004	116	1319	30	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						scavenged	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	40	12	0.3	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	6	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	2	29885564	21419002	117	1320	30	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						PASS	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	36	13	0.361111	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	6	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	3	29885567	21418999	118	1321	30	3								
PPEF1	5475	hgsc.bcm.edu	37	chrX	18824536	18824536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	accaggtggtgactatatttTctgcttctaattattatgaa	7	6	2	2			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:18824536T>C	ENST00000361511.4	+	15	1761	c.1267T>C	c.(1267-1269)Tct>Cct	p.S423P	PPEF1_ENST00000544635.1_Missense_Mutation_p.S358P|PPEF1_ENST00000349874.5_Missense_Mutation_p.S361P|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.S370P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	423	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GACTATATTTTCTGCTTCTAA	0.368																																					p.S423P		Atlas-SNP	.											.	PPEF1	89	.	0			c.T1267C						PASS	.						130	129	129					X																	18824536		2203	4300	6503	SO:0001583	missense	5475	exon15			ATATTTTCTGCTT	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1267T>C	X.37:g.18824536T>C	ENSP00000354871:p.Ser423Pro	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	152	54	0.355263	NM_006240	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	t	16.53	3.150243	0.57151	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.57	5.57	0.84162	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.397724	0.23189	N	0.050933	T	0.65281	0.2676	M	0.92122	3.275	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74386	-0.3682	10	0.72032	D	0.01	-7.5314	14.7291	0.69368	0.0:0.0:0.0:1.0	.	361;423;395	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	P	423;370;361;358	ENSP00000354871:S423P;ENSP00000352806:S370P;ENSP00000341892:S361P;ENSP00000441289:S358P	ENSP00000341892:S361P	S	+	1	0	PPEF1	18734457	1.000000	0.71417	0.999000	0.59377	0.181000	0.23173	7.563000	0.82314	1.859000	0.53934	0.414000	0.27820	TCT	.	.	none		0.368	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		C	18824536	T	C	18824536	3	2	6	1	0	0	0	0	1	0	0	0	12307	1783	62	2	1313	2	PPEF1	23	18824536	Missense_Mutation	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10		18824536	136446024	119	1322										
DMD	1756	hgsc.bcm.edu	37	chrX	32407663	32407664	+	Frame_Shift_Ins	INS	-	-	T													0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctacttcctgttccacactcINStttgtttccaatgcaggcaa					rs398123957		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:32407663_32407664insT	ENST00000357033.4	-	32	4678_4679	c.4472_4473insA	c.(4471-4473)aagfs	p.K1491fs	DMD_ENST00000378677.2_Frame_Shift_Ins_p.K1487fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1491	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTCCACACTCTTTGTTTCCAA	0.401																																					p.K1491fs		Pindel,Atlas-Indel	.											.	DMD	2127	.	0			c.4473_4474insA						PASS	.																																			SO:0001589	frameshift_variant	1756	exon32			.	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4473dupA	X.37:g.32407666_32407666dupT	ENSP00000354923:p.Lys1491fs	Somatic	251	.	.		WXS	Illumina HiSeq	Phase_I	204	44	0.216	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Ins	INS	ENST00000357033.4	37	CCDS14233.1																																																																																			.	.	none		0.401	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32407664	-	T	32407663	7	5	6	1	0	1	1	0	0	0	0	0	4580	912	32	0	6924	0	DMD	23	32407663	Frame_Shift_Ins	INS	-	TCGA-FA-A7DS-01A-11D-A382-10	13583127	32407663	122862897	120	1323										
BCOR	54880	hgsc.bcm.edu	37	chrX	39933243	39933243	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ttcatgtggtcagctttggaAgcatctacatccaccacttt	7	11	3	0			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:39933243A>G	ENST00000378444.4	-	4	1584	c.1356T>C	c.(1354-1356)gcT>gcC	p.A452A	BCOR_ENST00000397354.3_Silent_p.A452A|BCOR_ENST00000378455.4_Silent_p.A452A|BCOR_ENST00000342274.4_Silent_p.A452A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	452					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGCTTTGGAAGCATCTACAT	0.498			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.A452A		Atlas-SNP	.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	.	0			c.T1356C						PASS	.						82	68	73					X																	39933243		2202	4300	6502	SO:0001819	synonymous_variant	54880	exon4			TTTGGAAGCATCT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1356T>C	X.37:g.39933243A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	97	39	0.402062	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																			.	.	none		0.498	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39933243	A	G	39933243	2	3	6	1	0	0	0	0	0	0	0	1	1386	59	3	3		3	BCOR	23	39933243	Silent	SNP	A	TCGA-FA-A7DS-01A-11D-A382-10	7525580	39933243	115337317	121	1324										
ZNF630	57232	hgsc.bcm.edu	37	chrX	47919314	47919314	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atcaaacttatggaatttttGacttaaaggagcaaggtctg	9	5	2	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:47919314G>T	ENST00000409324.3	-	5	743	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	ZNF630_ENST00000442455.3_Missense_Mutation_p.Q159K|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.Q49K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	173					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(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGGAATTTTTGACTTAAAGGA	0.383																																					p.Q173K		Atlas-SNP	.											.	ZNF630	71	.	0			c.C517A						PASS	.						66	56	59					X																	47919314		2194	4286	6480	SO:0001583	missense	57232	exon5			ATTTTTGACTTAA	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.517C>A	X.37:g.47919314G>T	ENSP00000386393:p.Gln173Lys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	140	46	0.328571	NM_001037735	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.628014	0.00115	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686	T;T;T;T	0.07216	3.4;3.21;3.46;5.37	1.47	-1.99	0.07457	.	.	.	.	.	T	0.04543	0.0124	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39187	-0.9626	9	0.49607	T	0.09	.	7.9755	0.30153	0.0:0.0:0.712:0.288	.	173	Q2M218	ZN630_HUMAN	K	159;49;173;173	ENSP00000393163:Q159K;ENSP00000354683:Q49K;ENSP00000386393:Q173K;ENSP00000407278:Q173K	ENSP00000354683:Q49K	Q	-	1	0	ZNF630	47804258	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	-0.458000	0.06737	-0.541000	0.06257	-0.760000	0.03462	CAA	.	.	none		0.383	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		T	47919314	G	T	47919314	3	4	6	1	0	0	0	0	1	0	0	0	18051	1299	45	4	1460	4	ZNF630	23	47919314	Missense_Mutation	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	7986071	47919314	107351246	122	1325										
MTMR8	55613	hgsc.bcm.edu	37	chrX	63568661	63568661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	cagagagaggctggctacagCggcaaatggcagcctgtaag	15	9	0	2	rs201816063		TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:63568661C>T	ENST00000374852.3	-	6	678	c.611G>A	c.(610-612)cGc>cAc	p.R204H	MTMR8_ENST00000453546.1_Missense_Mutation_p.R204H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	204	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGGCTACAGCGGCAAATGGC	0.453													C|||	1	0.000264901	0.0	0.0	3775	,	,		12545	0.001		0.0	False		,,,				2504	0.0				p.R204H		Atlas-SNP	.											.	MTMR8	178	.	1	Whole gene deletion(1)	ovary(1)	c.G611A						PASS	.	C	HIS/ARG	1,3834		0,0,1,1632,570	80	64	69		611	-0.4	1	X		69	0,6728		0,0,0,2428,1872	yes	missense	MTMR8	NM_017677.3	29	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	probably-damaging	204/705	63568661	1,10562	2203	4300	6503	SO:0001583	missense	55613	exon6			CTACAGCGGCAAA	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.611G>A	X.37:g.63568661C>T	ENSP00000363985:p.Arg204His	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	90	31	0.344444	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150406	0.37923	2.61E-4	0.0	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.98164	-4.76;-4.76	2.68	-0.425	0.12317	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.49305	U	0.000148	D	0.99208	0.9725	H	0.99312	4.51	0.49798	D	0.99982	B;D	0.89917	0.086;1.0	B;D	0.91635	0.022;0.999	D	0.97436	1.0018	10	0.87932	D	0	.	7.0652	0.25147	0.0:0.6388:0.0:0.3612	.	204;204	B4DQL0;Q96EF0	.;MTMR8_HUMAN	H	204	ENSP00000394003:R204H;ENSP00000363985:R204H	ENSP00000363985:R204H	R	-	2	0	MTMR8	63485386	0.995000	0.38212	0.991000	0.47740	0.994000	0.84299	1.318000	0.33643	-0.414000	0.07495	0.506000	0.49869	CGC	.	.	weak		0.453	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		T	63568661	C	T	63568661	3	4	6	1	0	0	0	0	1	0	0	0	9949	768	27	1	1539	1	MTMR8	23	63568661	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	15649347	63568661	91701899	123	1326										
NXF3	56000	hgsc.bcm.edu	37	chrX	102338561	102338561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	actgggacgaagggtacactGcattcattctgaatcaaatt	9	8	3	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:102338561G>A	ENST00000395065.3	-	4	512	c.411C>T	c.(409-411)tgC>tgT	p.C137C	NXF3_ENST00000425463.2_Silent_p.C48C|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	137	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGGGTACACTGCATTCATTCT	0.473																																					p.C137C		Atlas-SNP	.											.	NXF3	81	.	0			c.C411T						PASS	.						148	135	139					X																	102338561		2203	4300	6503	SO:0001819	synonymous_variant	56000	exon4			TACACTGCATTCA	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.411C>T	X.37:g.102338561G>A		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	226	75	0.331858	NM_022052	B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.405290	0.01155	.	.	ENSG00000147206	ENST00000427570	.	.	.	3.78	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.31288	N	0.689788	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3248	5.4863	0.16751	0.2605:0.0:0.7395:0.0	.	.	.	.	X	14	.	.	Q	-	1	0	NXF3	102225217	0.513000	0.26194	0.027000	0.17364	0.003000	0.03518	0.488000	0.22371	0.428000	0.26173	-0.176000	0.13171	CAG	.	.	none		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		A	102338561	G	A	102338561	2	1	6	1	0	0	0	0	0	0	0	1	10785	1311	46	2		2	NXF3	23	102338561	Silent	SNP	G	TCGA-FA-A7DS-01A-11D-A382-10	38769900	102338561	52931999	124	1327										
ZIC3	7547	hgsc.bcm.edu	37	chrX	136649636	136649636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	atcgacgaggctcagctgagCcggcccaagaagagctgcga	14	12	1	3			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:136649636C>G	ENST00000287538.5	+	1	1336	c.786C>G	c.(784-786)agC>agG	p.S262R	ZIC3_ENST00000370606.3_Missense_Mutation_p.S262R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	262					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAGCTGAGCCGGCCCAAGA	0.632																																					p.S262R		Atlas-SNP	.											.	ZIC3	93	.	0			c.C786G						PASS	.						49	47	47					X																	136649636		2203	4300	6503	SO:0001583	missense	7547	exon1			GCTGAGCCGGCCC	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.786C>G	X.37:g.136649636C>G	ENSP00000287538:p.Ser262Arg	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	73	23	0.315068	NM_003413	B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	13.20	2.165805	0.38217	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.12255	2.7;2.75	4.58	3.65	0.41850	Zinc finger, C2H2-like (1);	0.143603	0.64402	D	0.000008	T	0.10165	0.0249	L	0.27053	0.805	0.39225	D	0.963566	B	0.12630	0.006	B	0.14578	0.011	T	0.09122	-1.0689	10	0.62326	D	0.03	.	9.6292	0.39770	0.0:0.8829:0.0:0.1171	.	262	O60481	ZIC3_HUMAN	R	262	ENSP00000287538:S262R;ENSP00000359638:S262R	ENSP00000287538:S262R	S	+	3	2	ZIC3	136477302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.318000	0.43779	0.807000	0.34208	0.597000	0.82753	AGC	.	.	none		0.632	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			G	136649636	C	G	136649636	3	3	6	1	0	0	0	0	1	0	0	0	17677	738	26	4	788	4	ZIC3	23	136649636	Missense_Mutation	SNP	C	TCGA-FA-A7DS-01A-11D-A382-10	34311075	136649636	18620924	125	1328										
GPR50	9248	hgsc.bcm.edu	37	chrX	150348670	150348670	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0336134453781513	4	1	0.566720816894871	1.46402877697842	0.470580678314491	0.559440559440559	0.790933204726308	0	ctccctctcctcatcgtgggTttctgctacgtgaggatctg	10	13	4	1			TCGA-FA-A7DS-01A-11D-A382-10	TCGA-FA-A7DS-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d742814c-f5f3-4231-a2e0-6014e315d672	8e110330-8f35-4680-b920-cca0e6156105	g.chrX:150348670T>A	ENST00000218316.3	+	2	684	c.615T>A	c.(613-615)ggT>ggA	p.G205G	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	205					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCGTGGGTTTCTGCTACG	0.527																																					p.G205G		Atlas-SNP	.											.	GPR50	195	.	0			c.T615A						PASS	.						235	207	216					X																	150348670		2123	4223	6346	SO:0001819	synonymous_variant	9248	exon2			CGTGGGTTTCTGC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.615T>A	X.37:g.150348670T>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	25	10	0.4	NM_004224	Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	CCDS44012.1																																																																																			.	.	none		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		A	150348670	T	A	150348670	2	1	6	1	0	0	0	0	0	0	0	1	6697	1712	60	5		5	GPR50	23	150348670	Silent	SNP	T	TCGA-FA-A7DS-01A-11D-A382-10	13699034	150348670	4921890	126	1329										
KLHL17	339451	hgsc.bcm.edu	37	chr1	900388	900388	+	Frame_Shift_Del	DEL	G	G	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gacggatggttgtacgccgtGgggggtaacgacggtagctc							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:900388delG	ENST00000338591.3	+	12	1853	c.1746delG	c.(1744-1746)gtgfs	p.V582fs	PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	582	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTACGCCGTGGGGGGTAACG	0.657																																					p.V582fs		Pindel,Atlas-Indel	.											.	KLHL17	31	.	0			c.1745delT						PASS	.						96	71	80					1																	900388		2203	4298	6501	SO:0001589	frameshift_variant	339451	exon12			.	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1746delG	1.37:g.900388delG	ENSP00000343930:p.Val582fs	Somatic	39	.	.		WXS	Illumina HiSeq	Phase_I	38	13	0.342	NM_198317	Q5SV94	Frame_Shift_Del	DEL	ENST00000338591.3	37	CCDS30550.1																																																																																			.	.	none		0.657	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		-	900388	G	-	900388	7	5	7	1	0	1	0	1	0	0	0	0	8372	1335	47	0	1792	0	KLHL17	1	900388	Frame_Shift_Del	DEL	G	TCGA-FA-A7Q1-01A-11D-A382-10		900388	248350233	1	1330										
PGD	5226	hgsc.bcm.edu	37	chr1	10479771	10479771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	acaccaactggacaggccatGgtggcaccgtgtcatcctcg	11	14	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:10479771G>A	ENST00000270776.8	+	13	1455	c.1417G>A	c.(1417-1419)Ggt>Agt	p.G473S	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.G451S|PGD_ENST00000538557.1_Missense_Mutation_p.G460S	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	473					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GACAGGCCATGGTGGCACCGT	0.547																																					p.G473S		Atlas-SNP	.											.	PGD	39	.	0			c.G1417A						PASS	.						197	165	176					1																	10479771		2203	4300	6503	SO:0001583	missense	5226	exon13			GGCCATGGTGGCA	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1417G>A	1.37:g.10479771G>A	ENSP00000270776:p.Gly473Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	66	37	0.560606	NM_002631	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792914	0.90453	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.42900	0.96;0.96;0.96	5.08	5.08	0.68730	Fibritin/6-phosphogluconate dehydrogenase, C-terminal extension (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66031	-0.6024	10	0.87932	D	0	-18.254	18.8577	0.92259	0.0:0.0:1.0:0.0	.	451;473;473	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	S	451;419;473;460	ENSP00000442285:G451S;ENSP00000270776:G473S;ENSP00000437822:G460S	ENSP00000270776:G473S	G	+	1	0	PGD	10402358	1.000000	0.71417	0.751000	0.31187	0.446000	0.32137	9.279000	0.95777	2.521000	0.84997	0.555000	0.69702	GGT	.	.	none		0.547	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		A	10479771	G	A	10479771	3	1	7	1	0	0	0	0	1	0	0	0	11787	1348	47	2	1467	2	PGD	1	10479771	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	9579383	10479771	238770850	2	1331										
CTRC	11330	hgsc.bcm.edu	37	chr1	15769988	15769990	+	In_Frame_Del	DEL	AGA	AGA	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccaggtggcctgcctgccagAgaaggactccctgctcccca							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:15769988_15769990delAGA	ENST00000375949.4	+	5	457_459	c.431_433delAGA	c.(430-435)gagaag>gag	p.K145del	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCCAGAGAAGGACTCCCT	0.576																																					p.144_144del		Pindel,Atlas-Indel	.											.	CTRC	28	.	0			c.430_432del						PASS	.																																			SO:0001651	inframe_deletion	11330	exon5			.	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.431_433delAGA	1.37:g.15769988_15769990delAGA	ENSP00000365116:p.Lys145del	Somatic	56	.	.		WXS	Illumina HiSeq	Phase_I	56	19	0.339	NM_007272	A8K082|O00765|Q9NUH5	In_Frame_Del	DEL	ENST00000375949.4	37	CCDS156.1																																																																																			.	.	none		0.576	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		-	15769990	AGA	-	15769988	7	5	7	1	0	1	0	1	0	0	0	0	4027	304	11	0	449	0	CTRC	1	15769988	In_Frame_Del	DEL	AGA	TCGA-FA-A7Q1-01A-11D-A382-10	5290217	15769988	233480633	3	1332										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22207014	22207014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agcacctgcagcagctccgcGcgctgcaccggccggccaga	13	18	0	1	rs377560753		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:22207014G>A	ENST00000374695.3	-	16	2116	c.2037C>T	c.(2035-2037)cgC>cgT	p.R679R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	679	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCAGCTCCGCGCGCTGCACCG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19729	0.001		0.0	False		,,,				2504	0.0				p.R679R		Atlas-SNP	.											.	HSPG2	311	.	0			c.C2037T						PASS	.	G		0,4398		0,0,2199	35	32	33		2037	-5.2	0.2	1		33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		679/4392	22207014	1,12995	2199	4299	6498	SO:0001819	synonymous_variant	3339	exon16			CTCCGCGCGCTGC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2037C>T	1.37:g.22207014G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			.	.	none		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22207014	G	A	22207014	2	1	7	1	0	0	0	0	0	0	0	1	7430	1074	38	1		1	HSPG2	1	22207014	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	6437026	22207014	227043607	4	1333										
ZBTB40	9923	hgsc.bcm.edu	37	chr1	22838451	22838451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gaagcgctgccgggtggctaAgagcaaacaggtgcagtgta	16	8	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:22838451A>C	ENST00000375647.4	+	11	2492	c.2285A>C	c.(2284-2286)aAg>aCg	p.K762T	ZBTB40_ENST00000374651.4_Missense_Mutation_p.K650T|ZBTB40_ENST00000404138.1_Missense_Mutation_p.K762T	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	762					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGGGTGGCTAAGAGCAAACAG	0.542																																					p.K762T		Atlas-SNP	.											.	ZBTB40	87	.	0			c.A2285C						PASS	.						73	71	72					1																	22838451		2203	4300	6503	SO:0001583	missense	9923	exon12			TGGCTAAGAGCAA	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2285A>C	1.37:g.22838451A>C	ENSP00000364798:p.Lys762Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	72	30	0.416667	NM_001083621	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979425	0.53827	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.28666	1.6;1.6;1.6	5.73	2.11	0.27256	.	0.333683	0.25500	N	0.030257	T	0.22936	0.0554	L	0.39085	1.19	0.30131	N	0.804809	P;B	0.35272	0.493;0.361	B;B	0.35971	0.215;0.107	T	0.10451	-1.0629	10	0.48119	T	0.1	-13.5347	8.9499	0.35783	0.705:0.0:0.295:0.0	.	650;762	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	T	762;762;650	ENSP00000384527:K762T;ENSP00000364798:K762T;ENSP00000363782:K650T	ENSP00000363782:K650T	K	+	2	0	ZBTB40	22711038	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.785000	0.38684	0.101000	0.17610	0.533000	0.62120	AAG	.	.	none		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		C	22838451	A	C	22838451	3	2	7	1	0	0	0	0	1	0	0	0	17539	72	3	5	2323	5	ZBTB40	1	22838451	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	631437	22838451	226412170	5	1334										
COL16A1	1307	hgsc.bcm.edu	37	chr1	32124550	32124550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agctggtcctggctggcctgGaggccctggtggcccctaaa	15	13	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:32124550G>A	ENST00000373672.3	-	63	4411	c.3895C>T	c.(3895-3897)Cca>Tca	p.P1299S	RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.P1299S|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1299	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGCTGGCCTGGAGGCCCTGGT	0.572																																					p.P1299S	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											.	COL16A1	137	.	0			c.C3895T						PASS	.						29	36	34					1																	32124550		1968	4118	6086	SO:0001583	missense	1307	exon63			GGCCTGGAGGCCC	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3895C>T	1.37:g.32124550G>A	ENSP00000362776:p.Pro1299Ser	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319289	0.41096	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93859	-3.3;-3.3;-2.81	4.43	4.43	0.53597	.	0.154041	0.44097	D	0.000481	D	0.94883	0.8346	M	0.74258	2.255	0.27094	N	0.96278	D;D	0.61697	0.99;0.969	P;P	0.56278	0.757;0.795	D	0.89856	0.4013	10	0.30854	T	0.27	.	14.3521	0.66711	0.0:0.0:1.0:0.0	.	1299;1297	Q07092;Q07092-2	COGA1_HUMAN;.	S	1299;1299;156	ENSP00000362776:P1299S;ENSP00000271069:P1299S;ENSP00000390281:P156S	ENSP00000271069:P1299S	P	-	1	0	COL16A1	31897137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.229000	0.58625	2.179000	0.69175	0.563000	0.77884	CCA	.	.	none		0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32124550	G	A	32124550	3	1	7	1	0	0	0	0	1	0	0	0	3673	1174	41	2	955	2	COL16A1	1	32124550	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	9286099	32124550	217126071	6	1335										
NFYC	4802	hgsc.bcm.edu	37	chr1	41213216	41213216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttcatttcagaaagacttccGagtgcaggaactcccactgg	9	11	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:41213216G>A	ENST00000308733.5	+	2	122	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	NFYC_ENST00000372653.1_Missense_Mutation_p.R39Q|NFYC_ENST00000456393.2_Missense_Mutation_p.R39Q|NFYC_ENST00000372651.1_Missense_Mutation_p.R39Q|NFYC_ENST00000372654.1_Missense_Mutation_p.R39Q|NFYC_ENST00000447388.3_Missense_Mutation_p.R39Q|NFYC_ENST00000372652.1_Missense_Mutation_p.R39Q|NFYC_ENST00000440226.3_Missense_Mutation_p.R39Q|NFYC_ENST00000427410.2_Missense_Mutation_p.R39Q|NFYC_ENST00000425457.2_Missense_Mutation_p.R39Q			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	39					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AAAGACTTCCGAGTGCAGGAA	0.403																																					p.R39Q		Atlas-SNP	.											.	NFYC	39	.	0			c.G116A						PASS	.						110	96	101					1																	41213216		2203	4300	6503	SO:0001583	missense	4802	exon3			ACTTCCGAGTGCA	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.116G>A	1.37:g.41213216G>A	ENSP00000312617:p.Arg39Gln	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	96	42	0.4375	NM_001142587	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37		.	.	.	.	.	.	.	.	.	.	G	36	5.955404	0.97145	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;1.45;1.44;0.88;1.45;1.45;1.44;2.44;1.46;1.45;1.45;0.89;0.86;1.43	6.17	6.17	0.99709	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.994;0.999;0.997;0.997;0.986	D;D;P;D;D;D;P	0.77557	0.947;0.978;0.885;0.99;0.947;0.947;0.658	T	0.62320	-0.6879	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	39;39;39;39;39;39;39	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	Q	39	ENSP00000408315:R39Q;ENSP00000404427:R39Q;ENSP00000396620:R39Q;ENSP00000397647:R39Q;ENSP00000408867:R39Q;ENSP00000361738:R39Q;ENSP00000361737:R39Q;ENSP00000361754:R39Q;ENSP00000361736:R39Q;ENSP00000361734:R39Q;ENSP00000414299:R39Q;ENSP00000436710:R39Q;ENSP00000409219:R39Q;ENSP00000312617:R39Q	ENSP00000312617:R39Q	R	+	2	0	NFYC	40985803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.356000	0.97091	2.941000	0.99782	0.655000	0.94253	CGA	.	.	none		0.403	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		A	41213216	G	A	41213216	3	1	7	1	0	0	0	0	1	0	0	0	10391	1058	37	1	122	1	NFYC	1	41213216	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	9088666	41213216	208037405	7	1336										
CLCA2	9635	hgsc.bcm.edu	37	chr1	86905898	86905898	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agtgaccagcggagatgataAgcttcttggcaattgcttac	11	8	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:86905898A>C	ENST00000370565.4	+	8	1433	c.1271A>C	c.(1270-1272)aAg>aCg	p.K424T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	424	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGAGATGATAAGCTTCTTGGC	0.443																																					p.K424T	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Atlas-SNP	.											.	CLCA2	102	.	0			c.A1271C						PASS	.						160	154	156					1																	86905898		2203	4300	6503	SO:0001583	missense	9635	exon8			ATGATAAGCTTCT		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1271A>C	1.37:g.86905898A>C	ENSP00000359596:p.Lys424Thr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	112	45	0.401786	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633645	0.29068	.	.	ENSG00000137975	ENST00000370565	T	0.11930	2.73	5.77	0.481	0.16809	von Willebrand factor, type A (3);	0.877147	0.10076	N	0.719128	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.19148	0.024	T	0.46162	-0.9211	10	0.56958	D	0.05	-1.0854	6.223	0.20691	0.5663:0.2085:0.2252:0.0	.	424	Q9UQC9	CLCA2_HUMAN	T	424	ENSP00000359596:K424T	ENSP00000359596:K424T	K	+	2	0	CLCA2	86678486	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	0.646000	0.24797	0.440000	0.26502	0.533000	0.62120	AAG	.	.	none		0.443	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		C	86905898	A	C	86905898	3	2	7	1	0	0	0	0	1	0	0	0	3458	72	3	5	1301	5	CLCA2	1	86905898	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	45692682	86905898	162344723	8	1337										
AGL	178	hgsc.bcm.edu	37	chr1	100327164	100327164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atttaatagagaaaaattccGttctctggattgggaaaatc	8	5	1	1	rs199958942		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:100327164G>A	ENST00000294724.4	+	3	666	c.188G>A	c.(187-189)cGt>cAt	p.R63H	AGL_ENST00000361302.3_Missense_Mutation_p.R47H|AGL_ENST00000370163.3_Missense_Mutation_p.R63H|AGL_ENST00000370165.3_Missense_Mutation_p.R63H|AGL_ENST00000370161.2_Missense_Mutation_p.R47H|AGL_ENST00000361915.3_Missense_Mutation_p.R63H|AGL_ENST00000361522.4_Missense_Mutation_p.R46H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	63					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAAAATTCCGTTCTCTGGAT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16881	0.001		0.0	False		,,,				2504	0.0				p.R63H		Atlas-SNP	.											AGL,caecum,carcinoma,+1,2	AGL	137	2	0			c.G188A						PASS	.						67	70	69					1																	100327164		2203	4300	6503	SO:0001583	missense	178	exon3			AATTCCGTTCTCT	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.188G>A	1.37:g.100327164G>A	ENSP00000294724:p.Arg63His	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	177	73	0.412429	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.80	2.045875	0.36085	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	4.97	1.01	0.19927	.	0.387349	0.28989	N	0.013491	T	0.17152	0.0412	L	0.38175	1.15	0.36408	D	0.863555	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.14578	0.011;0.008;0.005	T	0.04307	-1.0961	10	0.40728	T	0.16	.	8.5905	0.33684	0.4697:0.0:0.5303:0.0	.	46;47;63	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	63;63;63;63;47;47;46	ENSP00000355106:R63H;ENSP00000359184:R63H;ENSP00000359182:R63H;ENSP00000294724:R63H;ENSP00000354971:R47H;ENSP00000359180:R47H;ENSP00000354635:R46H	ENSP00000294724:R63H	R	+	2	0	AGL	100099752	0.382000	0.25148	0.945000	0.38365	0.993000	0.82548	0.745000	0.26259	-0.066000	0.12998	0.563000	0.77884	CGT	G|1.000;A|0.000	0.000	strong		0.358	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		A	100327164	G	A	100327164	3	1	7	1	0	0	0	0	1	0	0	0	384	1145	40	1	263	1	AGL	1	100327164	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	13421266	100327164	148923457	9	1338										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117122394	117122394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aataccaggccacagcgaagCgggagtcctggctggagcgg	16	11	0	0	rs374600687		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:117122394C>T	ENST00000369486.3	-	10	3719	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1005H|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1005H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	985	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CACAGCGAAGCGGGAGTCCTG	0.607																																					p.R1005H		Atlas-SNP	.											.	IGSF3	294	.	0			c.G3014A						PASS	.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	35	35	35		2954,3014	3.8	1	1		35	1,8599		0,1,4299	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	985/1195,1005/1215	117122394	1,13005	2203	4300	6503	SO:0001583	missense	3321	exon11			GCGAAGCGGGAGT	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2954G>A	1.37:g.117122394C>T	ENSP00000358498:p.Arg985His	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714450	0.48622	0.0	1.16E-4	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04551	3.75;3.6;3.6	4.67	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.486707	0.22464	N	0.059711	T	0.01387	0.0045	N	0.16478	0.41	0.45914	D	0.998751	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.45425	-0.9262	10	0.45353	T	0.12	-27.7348	10.8654	0.46851	0.0:0.9072:0.0:0.0928	.	985;1005	O75054;A6NJZ6	IGSF3_HUMAN;.	H	985;1005;1005	ENSP00000358498:R985H;ENSP00000358495:R1005H;ENSP00000321184:R1005H	ENSP00000321184:R1005H	R	-	2	0	IGSF3	116923917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.311000	0.43717	1.185000	0.42971	0.462000	0.41574	CGC	.	.	none		0.607	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117122394	C	T	117122394	3	4	7	1	0	0	0	0	1	0	0	0	7601	768	27	1	638	1	IGSF3	1	117122394	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	16795230	117122394	132128227	10	1339										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	145075777	145075777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cgtccccggaccggtaaggcGtgtagtgagcccggcgggac	17	13	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:145075777G>A	ENST00000530740.1	-	1	124	c.86C>T	c.(85-87)aCg>aTg	p.T29M	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.T29M|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T29M|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.T29M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGGTAAGGCGTGTAGTGAGC	0.711			T	PDGFRB	MPD																																p.T29M		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000369348,NS,carcinoma,-1,2	PDE4DIP	817	2	0			c.C86T						PASS	.						46	59	54					1																	145075777		2203	4298	6501	SO:0001583	missense	9659	exon1			TAAGGCGTGTAGT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.86C>T	1.37:g.145075777G>A	ENSP00000435654:p.Thr29Met	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	180	27	0.15	NM_022359	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37		.	.	.	.	.	.	.	.	.	.	G	11.01	1.513553	0.27123	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.08984	4.82;4.82;3.03	3.25	3.25	0.37280	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999998	B;P	0.49358	0.079;0.923	B;B	0.25884	0.005;0.064	T	0.44711	-0.9310	9	0.72032	D	0.01	.	10.1438	0.42751	0.0:0.0:1.0:0.0	.	29;29	Q5TB27;E9PJ64	.;.	M	29	ENSP00000435654:T29M;ENSP00000358366:T29M;ENSP00000358354:T29M	ENSP00000358351:T29M	T	-	2	0	PDE4DIP	143787134	0.007000	0.16637	0.524000	0.27887	0.036000	0.12997	1.660000	0.37397	1.798000	0.52647	0.511000	0.50034	ACG	.	.	none		0.711	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		A	145075777	G	A	145075777	3	1	7	1	0	0	0	0	1	0	0	0	11643	1145	40	1	8726	1	PDE4DIP	1	145075777	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	27953383	145075777	104174844	11	1340										
FLG	2312	hgsc.bcm.edu	37	chr1	152276368	152276368	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctgaatgtccctcactgtcaCtggcctgactaccactggac	8	15	2	2	rs201216189		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:152276368C>G	ENST00000368799.1	-	3	11029	c.10994G>C	c.(10993-10995)aGt>aCt	p.S3665T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3665	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGGCCTGACT	0.587									Ichthyosis																												p.S3665T		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.G10994C						scavenged	.						34	36	36					1																	152276368		2201	4268	6469	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGTCACTGGCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10994G>C	1.37:g.152276368C>G	ENSP00000357789:p.Ser3665Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	124	4	0.0322581	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369374	0.24771	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	4.62	1.67	0.24075	.	.	.	.	.	T	0.04724	0.0128	M	0.69823	2.125	0.09310	N	1	B	0.31383	0.321	B	0.42112	0.376	T	0.45731	-0.9241	9	0.15499	T	0.54	.	6.3601	0.21422	0.0:0.5359:0.3655:0.0986	.	3665	P20930	FILA_HUMAN	T	3665	ENSP00000357789:S3665T	ENSP00000357789:S3665T	S	-	2	0	FLG	150542992	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.297000	0.08276	0.647000	0.30713	0.552000	0.68991	AGT	.	.	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276368	C	G	152276368	3	3	7	1	0	0	0	0	1	0	0	0	5922	565	20	4	1195	4	FLG	1	152276368	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	7200591	152276368	96974253	12	1341										
FLG2	388698	hgsc.bcm.edu	37	chr1	152326298	152326298	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accagaatggccatgtctagTggtatctcctctctgtccat	8	12	3	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:152326298T>A	ENST00000388718.5	-	3	4036	c.3964A>T	c.(3964-3966)Act>Tct	p.T1322S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1322					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCTAGTGGTATCTCCT	0.473																																					p.T1322S		Atlas-SNP	.											.	FLG2	431	.	0			c.A3964T						PASS	.						369	313	332					1																	152326298		2203	4300	6503	SO:0001583	missense	388698	exon3			GTCTAGTGGTATC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3964A>T	1.37:g.152326298T>A	ENSP00000373370:p.Thr1322Ser	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	247	98	0.396761	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	0.971	-0.700293	0.03279	.	.	ENSG00000143520	ENST00000388718	T	0.35236	1.32	2.89	-5.77	0.02369	.	.	.	.	.	T	0.03305	0.0096	N	0.13235	0.315	0.09310	N	1	B	0.19073	0.033	B	0.14023	0.01	T	0.30534	-0.9975	9	0.02654	T	1	-4.0209	3.9618	0.09413	0.6078:0.166:0.0:0.2263	.	1322	Q5D862	FILA2_HUMAN	S	1322	ENSP00000373370:T1322S	ENSP00000373370:T1322S	T	-	1	0	FLG2	150592922	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-1.185000	0.02716	0.254000	0.18369	ACT	.	.	none		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152326298	T	A	152326298	3	1	7	1	0	0	0	0	1	0	0	0	5923	1696	59	5	3215	5	FLG2	1	152326298	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	49930	152326298	96924323	13	1342										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	48	3	0.0625		WXS	Illumina HiSeq	Phase_I	62	21	0.33871	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	7	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	2515945	154842243	94408378	14	1343	31	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	49	4	0.0816327		WXS	Illumina HiSeq	Phase_I	62	19	0.306452	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	7	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	1	154842244	94408377	15	1344	31	2								
ARHGEF2	9181	hgsc.bcm.edu	37	chr1	155917765	155917765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggctacagcctccccgtcgcGgctctccgtctcctccggga	11	19	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:155917765G>A	ENST00000361247.4	-	22	3028	c.2929C>T	c.(2929-2931)Cgc>Tgc	p.R977C	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R949C|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R1022C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R949C|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R978C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R976C|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	977					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCCCGTCGCGGCTCTCCGTC	0.612																																					p.R977C	Melanoma(178;35 2768 6610 28839)	Atlas-SNP	.											.	ARHGEF2	81	.	0			c.C2929T						PASS	.						12	10	11					1																	155917765		1898	3573	5471	SO:0001583	missense	9181	exon22			CGTCGCGGCTCTC	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2929C>T	1.37:g.155917765G>A	ENSP00000354837:p.Arg977Cys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	102	43	0.421569	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916847	0.73098	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.70516	-0.49;-0.37;-0.38;-0.49;-0.49	5.22	5.22	0.72569	.	0.000000	0.45867	D	0.000323	T	0.65015	0.2651	N	0.19112	0.55	0.44771	D	0.997772	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.69654	0.948;0.893;0.95;0.965	T	0.71457	-0.4587	10	0.87932	D	0	-18.6811	11.2356	0.48938	0.0:0.0:0.8176:0.1824	.	1021;977;976;978	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	C	949;977;978;949;976	ENSP00000315325:R949C;ENSP00000354837:R977C;ENSP00000357298:R978C;ENSP00000357299:R949C;ENSP00000314787:R976C	ENSP00000314787:R976C	R	-	1	0	ARHGEF2	154184389	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	2.542000	0.45744	2.713000	0.92767	0.655000	0.94253	CGC	.	.	none		0.612	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155917765	G	A	155917765	3	1	7	1	0	0	0	0	1	0	0	0	903	1116	39	1	35	1	ARHGEF2	1	155917765	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	1075521	155917765	93332856	16	1345										
C1orf61	10485	hgsc.bcm.edu	37	chr1	156386596	156386596	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tggaaaaggaggaagttcctCaagttaaatgttatgagatc	11	4	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:156386596C>G	ENST00000368243.1	-	3	152	c.36G>C	c.(34-36)ttG>ttC	p.L12F		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	12						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GGAAGTTCCTCAAGTTAAATG	0.458																																					p.L12F		Atlas-SNP	.											.	C1orf61	15	.	0			c.G36C						PASS	.						131	130	130					1																	156386596		2203	4300	6503	SO:0001583	missense	10485	exon3			GTTCCTCAAGTTA		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"contingent replication of cDNA-4", "transcriptional activator of the c fos promoter"					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.36G>C	1.37:g.156386596C>G	ENSP00000357226:p.Leu12Phe	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	177	39	0.220339	NM_006365	B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	CCDS1142.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788423	0.70337	.	.	ENSG00000125462	ENST00000368243	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	T	0.24353	0.0590	N	0.14661	0.345	0.23030	N	0.998407	D	0.71674	0.998	D	0.66979	0.948	T	0.07673	-1.0760	8	0.87932	D	0	.	8.9465	0.35762	0.0:1.0:0.0:0.0	.	12	Q13536	CROC4_HUMAN	F	12	.	ENSP00000357226:L12F	L	-	3	2	C1orf61	154653220	0.044000	0.20184	0.869000	0.34112	0.596000	0.36781	0.036000	0.13819	1.776000	0.52262	0.491000	0.48974	TTG	.	.	none		0.458	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		G	156386596	C	G	156386596	3	3	7	1	0	0	0	0	1	0	0	0	2052	825	29	4	454	4	C1orf61	1	156386596	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	468831	156386596	92864025	17	1346										
APCS	325	hgsc.bcm.edu	37	chr1	159557958	159557958	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	catgtaaacttgatcacaccGctggagaagcctctacagaa	8	11	2	3	rs371650621		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:159557958G>T	ENST00000255040.2	+	2	229	c.132G>T	c.(130-132)ccG>ccT	p.P44P		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	44	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.P44P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGATCACACCGCTGGAGAAGC	0.443																																					p.P44P		Atlas-SNP	.											APCS,NS,carcinoma,0,1	APCS	48	1	1	Substitution - coding silent(1)	kidney(1)	c.G132T						scavenged	.						103	101	102					1																	159557958		2203	4300	6503	SO:0001819	synonymous_variant	325	exon2			CACACCGCTGGAG		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.132G>T	1.37:g.159557958G>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	116	3	0.0258621	NM_001639		Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																			.	.	none		0.443	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		T	159557958	G	T	159557958	2	4	7	1	0	0	0	0	0	0	0	1	767	1074	38	4		4	APCS	1	159557958	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	3171362	159557958	89692663	18	1347										
ARHGAP30	257106	hgsc.bcm.edu	37	chr1	161026256	161026256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gccttgcacagggaggagacGcagtgaatgtcttggaggta	16	7	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:161026256G>A	ENST00000368013.3	-	3	587	c.267C>T	c.(265-267)tgC>tgT	p.C89C	ARHGAP30_ENST00000368016.3_Silent_p.C89C|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	89	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGAGGAGACGCAGTGAATGT	0.577																																					p.C89C		Atlas-SNP	.											.	ARHGAP30	105	.	0			c.C267T						PASS	.						85	76	79					1																	161026256		2203	4300	6503	SO:0001819	synonymous_variant	257106	exon3			GGAGACGCAGTGA	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.267C>T	1.37:g.161026256G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	49	14	0.285714	NM_001025598	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	CCDS30918.1																																																																																			.	.	none		0.577	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		A	161026256	G	A	161026256	2	1	7	1	0	0	0	0	0	0	0	1	879	1079	38	1		1	ARHGAP30	1	161026256	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	1468298	161026256	88224365	19	1348										
DCAF6	55827	hgsc.bcm.edu	37	chr1	168014147	168014147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttttctgacagcacaatcagAtaagttcacagccaagccat	6	11	3	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:168014147A>G	ENST00000312263.6	+	14	1913	c.1709A>G	c.(1708-1710)gAt>gGt	p.D570G	DCAF6_ENST00000367840.3_Missense_Mutation_p.D647G|DCAF6_ENST00000367843.3_Missense_Mutation_p.D590G|DCAF6_ENST00000432587.2_Missense_Mutation_p.D616G	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	570					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCACAATCAGATAAGTTCACA	0.388																																					p.D647G		Atlas-SNP	.											.	DCAF6	99	.	0			c.A1940G						PASS	.						111	123	119					1																	168014147		2203	4300	6503	SO:0001583	missense	55827	exon16			AATCAGATAAGTT	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1709A>G	1.37:g.168014147A>G	ENSP00000311949:p.Asp570Gly	Somatic	271	1	0.00369004		WXS	Illumina HiSeq	Phase_I	445	269	0.604494	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185240	0.38609	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.29	4.16	0.48862	WD40 repeat-like-containing domain (1);	0.534254	0.18907	N	0.127876	T	0.13841	0.0335	N	0.24115	0.695	0.29487	N	0.85592	P;P;B;P	0.52170	0.951;0.814;0.002;0.702	P;B;B;B	0.48552	0.581;0.402;0.004;0.294	T	0.04203	-1.0969	9	0.51188	T	0.08	.	9.6019	0.39609	0.9203:0.0:0.0797:0.0	.	616;647;570;590	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	G	590;616;570;647	ENSP00000356817:D590G;ENSP00000396238:D616G;ENSP00000311949:D570G;ENSP00000356814:D647G	ENSP00000311949:D570G	D	+	2	0	DCAF6	166280771	1.000000	0.71417	0.670000	0.29842	0.817000	0.46193	2.828000	0.48120	0.848000	0.35191	0.460000	0.39030	GAT	.	.	none		0.388	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		G	168014147	A	G	168014147	3	3	7	1	0	0	0	0	1	0	0	0	4274	333	12	2	1827	2	DCAF6	1	168014147	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	6987891	168014147	81236474	20	1349										
RC3H1	149041	hgsc.bcm.edu	37	chr1	173916598	173916598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atagttttggaagttcgtgaGatggcaccaaaccgagacac	11	8	0	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:173916598G>A	ENST00000367696.2	-	15	2997	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	RC3H1_ENST00000258349.4_Silent_p.I882I|RC3H1_ENST00000367694.2_Silent_p.I882I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	882					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AAGTTCGTGAGATGGCACCAA	0.473																																					p.I882I		Atlas-SNP	.											.	RC3H1	110	.	0			c.C2646T						PASS	.						142	141	142					1																	173916598		2203	4300	6503	SO:0001819	synonymous_variant	149041	exon14			TCGTGAGATGGCA	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2646C>T	1.37:g.173916598G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	174	60	0.344828	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	CCDS30940.1																																																																																			.	.	none		0.473	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		A	173916598	G	A	173916598	2	1	7	1	0	0	0	0	0	0	0	1	13166	932	33	2		2	RC3H1	1	173916598	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	5902451	173916598	75334023	21	1350										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186947	203186947	+	Missense_Mutation	SNP	G	G	C													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	caaagtcatctaagtccagtGcccagaccatggccccgccc					rs201682373	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:203186947G>C	ENST00000367229.1	-	10	1110	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	CHIT1_ENST00000255427.3_Missense_Mutation_p.A340G|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.A350G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	359					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TAAGTCCAGTGCCCAGACCAT	0.637																																					p.A359G		Atlas-SNP	.											CHIT1,NS,carcinoma,0,1	CHIT1	61	1	0			c.C1076G						PASS	.						60	52	55					1																	203186947		2203	4300	6503	SO:0001583	missense	1118	exon10			TCCAGTGCCCAGA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1076C>G	1.37:g.203186947G>C	ENSP00000356198:p.Ala359Gly	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	54	5	0.0925926	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728517	0.15507	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	4.57	0.302	0.15786	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.729039	0.11613	N	0.546569	T	0.10035	0.0246	M	0.85630	2.765	0.09310	N	1	B;B	0.27853	0.191;0.016	B;B	0.29176	0.099;0.04	T	0.34079	-0.9843	10	0.87932	D	0	-8.5687	2.2813	0.04115	0.1816:0.1509:0.5123:0.1553	.	350;359	G5EA51;Q13231	.;CHIT1_HUMAN	G	359;340;350	ENSP00000356198:A359G;ENSP00000255427:A340G;ENSP00000438078:A350G	ENSP00000255427:A340G	A	-	2	0	CHIT1	201453570	0.150000	0.22732	0.000000	0.03702	0.071000	0.16799	2.681000	0.46926	-0.144000	0.11314	0.563000	0.77884	GCA	G|0.988;C|0.012	0.012	strong		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		C	203186947	G	C	203186947	3	2	7	1	0	0	0	0	1	0	0	0	3346	1319	46	4	332	4	CHIT1	1	203186947	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	29270349	203186947	46063674	22	1351	32	2								
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agtcatctaagtccagtgccCagaccatggccccgcccagt					rs201320385|rs3831317|rs150192398	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		Atlas-SNP	.											CHIT1,colon,carcinoma,0,2	CHIT1	61	2	0			c.G1073A						PASS	.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	55	5	0.0909091	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011	0.011	strong		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	7	1	0	0	0	0	0	1	0	0	3346	595	21	2	335	2	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	3	203186950	46063671	23	1352	32	2								
BTG2	7832	hgsc.bcm.edu	37	chr1	203274815	203274823	+	In_Frame_Del	DEL	GGGCTGCGT	GGGCTGCGT	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tccagcctcctgaggacccgGggctgcgtgagcgagcagag					rs55906353		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	GGGCTGCGT	GGGCTGCGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:203274815_203274823delGGGCTGCGT	ENST00000290551.4	+	1	152_160	c.81_89delGGGCTGCGT	c.(79-90)cggggctgcgtg>cgg	p.GCV28del	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	28					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R27R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TGAGGACCCGGGGCTGCGTGAGCGAGCAG	0.718																																					p.27_30del		Pindel,Atlas-Indel	.											BTG2,rectum,carcinoma,-1,3	BTG2	16	3	1	Substitution - coding silent(1)	skin(1)	c.80_88del						PASS	.																																			SO:0001651	inframe_deletion	7832	exon1			.		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.81_89delGGGCTGCGT	1.37:g.203274815_203274823delGGGCTGCGT	ENSP00000290551:p.Gly28_Val30del	Somatic	63	.	.		WXS	Illumina HiSeq	Phase_I	114	25	0.219	NM_006763	A0A024R986|Q3KR25|Q5VUT0	In_Frame_Del	DEL	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.718	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		-	203274823	GGGCTGCGT	-	203274815	7	5	7	1	0	1	0	1	0	0	0	0	1554	1219	43	0	83	0	BTG2	1	203274815	In_Frame_Del	DEL	GGGCTGCGT	TCGA-FA-A7Q1-01A-11D-A382-10	87865	203274815	45975806	24	1353										
H3F3A	3020	hgsc.bcm.edu	37	chr1	226252097	226252097	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cgcaaatcgaccggtggtaaAgcacccaggaagcaactggc	12	12	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:226252097A>C	ENST00000366813.1	+	1	420	c.45A>C	c.(43-45)aaA>aaC	p.K15N	H3F3A_ENST00000366814.3_Missense_Mutation_p.K15N|H3F3A_ENST00000366816.1_Missense_Mutation_p.K15N|H3F3A_ENST00000366815.3_Missense_Mutation_p.K15N|RP11-396C23.4_ENST00000609423.1_RNA			P84243	H33_HUMAN	H3 histone, family 3A	15					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CCGGTGGTAAAGCACCCAGGA	0.478			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K15N		Atlas-SNP	.		Dom	yes		1	1q42.12	3020	"H3 histone, family 3A"		O	.	H3F3A	245	.	0			c.A45C						PASS	.						29	30	30					1																	226252097		2203	4296	6499	SO:0001583	missense	3020	exon2			TGGTAAAGCACCC	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.45A>C	1.37:g.226252097A>C	ENSP00000355778:p.Lys15Asn	Somatic	151	0	0	2311	WXS	Illumina HiSeq	Phase_I	239	148	0.619247	NM_002107	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	A	9.163	1.019187	0.19355	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.32	3.18	0.36537	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	.	.	.	0.47276	D	0.999371	D;B	0.76494	0.999;0.001	D;B	0.78314	0.991;0.002	T	0.58618	-0.7605	9	0.72032	D	0.01	.	6.0363	0.19710	0.6485:0.0:0.3515:0.0	.	15;15	B4DEB1;P84243	.;H33_HUMAN	N	15	ENSP00000355781:K15N;ENSP00000355780:K15N;ENSP00000355779:K15N;ENSP00000355778:K15N	ENSP00000355778:K15N	K	+	3	2	H3F3A	224318720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.096000	0.41738	0.626000	0.30322	0.533000	0.62120	AAA	.	.	none		0.478	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		C	226252097	A	C	226252097	3	2	7	1	0	0	0	0	1	0	0	0	6933	69	3	5	47	5	H3F3A	1	226252097	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	22977282	226252097	22998524	25	1354										
CHRM3	1131	hgsc.bcm.edu	37	chr1	240071868	240071868	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccatcgtgctcaagcttccgGgtcacagcaccatcctcaac	7	17	3	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:240071868G>C	ENST00000255380.4	+	5	1896	c.1117G>C	c.(1117-1119)Ggt>Cgt	p.G373R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	373					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAAGCTTCCGGGTCACAGCAC	0.592																																					p.G373R		Atlas-SNP	.											.	CHRM3	118	.	0			c.G1117C						PASS	.						33	26	28					1																	240071868		2203	4300	6503	SO:0001583	missense	1131	exon5			CTTCCGGGTCACA	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1117G>C	1.37:g.240071868G>C	ENSP00000255380:p.Gly373Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	90	18	0.2	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285109	0.80803	.	.	ENSG00000133019	ENST00000255380	T	0.60672	0.17	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.174679	0.49305	D	0.000152	T	0.72716	0.3495	L	0.58101	1.795	0.80722	D	1	D	0.55605	0.972	P	0.61275	0.886	T	0.70594	-0.4829	10	0.51188	T	0.08	-13.9681	20.4238	0.99064	0.0:0.0:1.0:0.0	.	373	P20309	ACM3_HUMAN	R	373	ENSP00000255380:G373R	ENSP00000255380:G373R	G	+	1	0	CHRM3	238138491	1.000000	0.71417	0.479000	0.27329	0.884000	0.51177	9.869000	0.99810	2.828000	0.97474	0.655000	0.94253	GGT	.	.	none		0.592	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		C	240071868	G	C	240071868	3	2	7	1	0	0	0	0	1	0	0	0	3378	1232	43	4	1119	4	CHRM3	1	240071868	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	13819771	240071868	9178753	26	1355										
SDCCAG8	10806	hgsc.bcm.edu	37	chr1	243437859	243437859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcatagaggtcattagaacaTgaggaaaccaatatgcctac	8	8	2	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:243437859T>C	ENST00000366541.3	+	4	439	c.321T>C	c.(319-321)caT>caC	p.H107H	SDCCAG8_ENST00000391846.1_Silent_p.H107H|SDCCAG8_ENST00000355875.4_Silent_p.H107H|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	107					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATTAGAACATGAGGAAACCA	0.299																																					p.H107H		Atlas-SNP	.											.	SDCCAG8	73	.	0			c.T321C						PASS	.						80	78	79					1																	243437859		2203	4294	6497	SO:0001819	synonymous_variant	10806	exon4			AGAACATGAGGAA	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.321T>C	1.37:g.243437859T>C		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	454	117	0.257709	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																			.	.	none		0.299	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		C	243437859	T	C	243437859	2	2	7	1	0	0	0	0	0	0	0	1	13959	1461	51	2		2	SDCCAG8	1	243437859	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	3365991	243437859	5812762	27	1356										
OR2L2	26246	hgsc.bcm.edu	37	chr1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atgtacgtccaagatccctgCgatctccaacagaggacaag	9	12	1	2	rs546778867		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0				p.R265X		Atlas-SNP	.											OR2L2,face,carcinoma,-1,4	OR2L2	115	4	0			c.C793T						scavenged	.						138	125	130					1																	248202362		2203	4300	6503	SO:0001587	stop_gained	26246	exon1			TCCCTGCGATCTC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.793C>T	1.37:g.248202362C>T	ENSP00000355435:p.Arg265*	Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	152	89	0.585526	NM_001004686	Q2M3T5	Nonsense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.067941	0.55539	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	0.911	0.19343	.	0.000000	0.27636	U	0.018492	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	3.04	0.06135	0.243:0.5305:0.0:0.2264	.	.	.	.	X	265	.	ENSP00000355435:R265X	R	+	1	2	OR2L2	246268985	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.234000	0.01203	0.005000	0.14708	0.194000	0.17425	CGA	.	.	none		0.498	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202362	C	T	248202362	4	4	7	1	0	0	0	0	0	1	0	0	11007	760	27	1	795	1	OR2L2	1	248202362	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	4764503	248202362	1048259	28	1357										
MBOAT2	129642	hgsc.bcm.edu	37	chr2	9002786	9002786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	taatatcctgggtataccccGtgccaaatggcagagagaat	10	9	0	2	rs142879518		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:9002786G>A	ENST00000305997.3	-	11	1317	c.1119C>T	c.(1117-1119)caC>caT	p.H373H	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	373					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTATACCCCGTGCCAAATGG	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19011	0.0		0.001	False		,,,				2504	0.0				p.H373H	Ovarian(194;1699 3813 22401)	Atlas-SNP	.											.	MBOAT2	36	.	0			c.C1119T						PASS	.	G		0,4406		0,0,2203	96	92	94		1119	-2	1	2	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MBOAT2	NM_138799.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		373/521	9002786	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	129642	exon11			TACCCCGTGCCAA	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1119C>T	2.37:g.9002786G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	30	21	0.7	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	CCDS1660.1																																																																																			G|1.000;A|0.000	0.000	strong		0.408	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		A	9002786	G	A	9002786	2	1	7	1	0	0	0	0	0	0	0	1	9357	1136	40	1		1	MBOAT2	2	9002786	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		9002786	234196587	29	1358										
CAD	790	hgsc.bcm.edu	37	chr2	27456274	27456274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	catggccatggcgttgcatcGgcagcagtgccgggtgctgg	17	11	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:27456274G>A	ENST00000403525.1	+	19	3041	c.2897G>A	c.(2896-2898)cGg>cAg	p.R966Q	CAD_ENST00000264705.4_Missense_Mutation_p.R1029Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTTGCATCGGCAGCAGTGC	0.567																																					p.R1029Q		Atlas-SNP	.											CAD,NS,malignant_melanoma,+1,1	CAD	199	1	0			c.G3086A						PASS	.						57	55	56					2																	27456274		2203	4300	6503	SO:0001583	missense	790	exon20			TGCATCGGCAGCA	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2897G>A	2.37:g.27456274G>A	ENSP00000384510:p.Arg966Gln	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.904524	0.97087	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97328	-4.34;-4.34	5.62	5.62	0.85841	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.78314	0.782;0.991	D	0.98147	1.0439	10	0.51188	T	0.08	-9.735	18.5877	0.91196	0.0:0.0:1.0:0.0	.	966;1029	F8VPD4;P27708	.;PYR1_HUMAN	Q	1029;966	ENSP00000264705:R1029Q;ENSP00000384510:R966Q	ENSP00000264705:R1029Q	R	+	2	0	CAD	27309778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.804000	0.96469	0.655000	0.94253	CGG	.	.	none		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27456274	G	A	27456274	3	1	7	1	0	0	0	0	1	0	0	0	2565	1116	39	1	3164	1	CAD	2	27456274	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	18453488	27456274	215743099	30	1359										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73677595	73677595	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgaagaggctaagaatgtttCagcggttcctggaccagctg	13	8	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:73677595C>A	ENST00000264448.6	+	8	4049	c.3938C>A	c.(3937-3939)tCa>tAa	p.S1313*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.S1313*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.S1271*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1313	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAATGTTTCAGCGGTTCCT	0.448																																					p.S1313X		Atlas-SNP	.											.	ALMS1	384	.	0			c.C3938A						PASS	.						135	134	134					2																	73677595		1855	4100	5955	SO:0001587	stop_gained	7840	exon8			ATGTTTCAGCGGT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3938C>A	2.37:g.73677595C>A	ENSP00000264448:p.Ser1313*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	38	7.255527	0.98168	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.44	-1.82	0.07857	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8702	0.35311	0.0:0.3542:0.0:0.6458	.	.	.	.	X	1271;1313;1313	.	ENSP00000264448:S1313X	S	+	2	0	ALMS1	73531103	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.394000	0.07296	-0.386000	0.07821	0.655000	0.94253	TCA	.	.	none		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73677595	C	A	73677595	4	1	7	1	0	0	0	0	0	1	0	0	535	838	29	4	3968	4	ALMS1	2	73677595	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	46221321	73677595	169521778	31	1360										
NEB	4703	hgsc.bcm.edu	37	chr2	152486101	152486101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gcagccacgatggggatggcGtcacttcgcaagtcgtagcc	14	12	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:152486101G>A	ENST00000172853.10	-	64	9201	c.9054C>T	c.(9052-9054)gaC>gaT	p.D3018D	NEB_ENST00000397345.3_Silent_p.D3261D|NEB_ENST00000409198.1_Silent_p.D3018D|NEB_ENST00000604864.1_Silent_p.D3261D|NEB_ENST00000603639.1_Silent_p.D3261D|NEB_ENST00000427231.2_Silent_p.D3261D			P20929	NEBU_HUMAN	nebulin	3018					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGGATGGCGTCACTTCGCA	0.458																																					p.D3261D		Atlas-SNP	.											.	NEB	1697	.	0			c.C9783T						PASS	.						158	160	159					2																	152486101		1947	4142	6089	SO:0001819	synonymous_variant	4703	exon68			GATGGCGTCACTT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9054C>T	2.37:g.152486101G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	120	52	0.433333	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				.	.	none		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152486101	G	A	152486101	2	1	7	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152486101	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	78808506	152486101	90713272	32	1361										
LRP2	4036	hgsc.bcm.edu	37	chr2	170134323	170134323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcaacccagtaaacacgcttCgatatcatatccagagttac	5	12	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:170134323C>T	ENST00000263816.3	-	13	1989	c.1704G>A	c.(1702-1704)tcG>tcA	p.S568S	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	568					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)"	AAACACGCTTCGATATCATAT	0.413																																					p.S568S		Atlas-SNP	.											.	LRP2	751	.	0			c.G1704A						PASS	.						143	139	140					2																	170134323		2203	4300	6503	SO:0001819	synonymous_variant	4036	exon13			ACGCTTCGATATC		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.1704G>A	2.37:g.170134323C>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	219	107	0.488584	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			.	.	none		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170134323	C	T	170134323	2	4	7	1	0	0	0	0	0	0	0	1	8956	871	31	1		1	LRP2	2	170134323	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	17648222	170134323	73065050	33	1362										
TTN	7273	hgsc.bcm.edu	37	chr2	179593297	179593297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accttgaaagtgtactgaccGctgtcctgcttcattactga	8	11	1	3	rs369275615		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:179593297G>A	ENST00000591111.1	-	64	18629	c.18405C>T	c.(18403-18405)agC>agT	p.S6135S	TTN_ENST00000589042.1_Silent_p.S6452S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5208S|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12922	Ig-like 42.				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)			TGTACTGACCGCTGTCCTGCT	0.418																																					p.S6452S		Atlas-SNP	.											TTN_ENST00000356127,NS,carcinoma,0,3	TTN	18412	3	0			c.C19356T						PASS	.	G	,,,	1,3785		0,1,1892	69	61	64		,15624,,	-4.4	0.8	2		64	0,8244		0,0,4122	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6014	AA,AG,GG		0.0,0.0264,0.0083	,,,	,5208/33424,,	179593297	1,12029	1893	4122	6015	SO:0001819	synonymous_variant	7273	exon66			CTGACCGCTGTCC	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.18405C>T	2.37:g.179593297G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	125	60	0.48	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.	.	weak		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179593297	G	A	179593297	2	1	7	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179593297	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	9458974	179593297	63606076	34	1363										
ALS2CR4	65062	hgsc.bcm.edu	37	chr2	202501530	202501530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gagcctctgggtgctctttgAgttctttagttgatggctca	12	8	4	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr2:202501530A>C	ENST00000409883.2	-	5	331	c.215T>G	c.(214-216)cTc>cGc	p.L72R	TMEM237_ENST00000409444.2_Missense_Mutation_p.L64R	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	72					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GTGCTCTTTGAGTTCTTTAGT	0.453																																					p.L72R		Atlas-SNP	.											.	TMEM237	21	.	0			c.T215G						PASS	.						64	60	61					2																	202501530		1835	4093	5928	SO:0001583	missense	65062	exon4			TCTTTGAGTTCTT	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.215T>G	2.37:g.202501530A>C	ENSP00000386264:p.Leu72Arg	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	35	19	0.542857	NM_001044385	B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	A	9.136	1.012703	0.19277	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684	T;T	0.51325	0.71;0.71	5.27	2.22	0.28083	.	0.509712	0.19376	N	0.115789	T	0.29321	0.0730	L	0.36672	1.1	0.09310	N	1	P;B	0.36837	0.571;0.343	B;B	0.33254	0.16;0.16	T	0.12630	-1.0540	10	0.15952	T	0.53	0.2704	6.1798	0.20465	0.3638:0.0:0.6362:0.0	.	72;96	E9PAR8;Q96Q45	.;TM237_HUMAN	R	64;72;72;94	ENSP00000387203:L64R;ENSP00000386264:L72R	ENSP00000387203:L64R	L	-	2	0	TMEM237	202209775	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	0.381000	0.20619	0.244000	0.21351	0.528000	0.53228	CTC	.	.	none		0.453	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		C	202501530	A	C	202501530	3	2	7	1	0	0	0	0	1	0	0	0	554	304	11	5	1047	5	ALS2CR4	2	202501530	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	22908233	202501530	40697843	35	1364										
RHOA	387	hgsc.bcm.edu	37	chr3	49413010	49413010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aacaatcaccagtttcttccGgatggcagccattgctgaaa	8	11	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:49413010G>A	ENST00000418115.1	-	2	397	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RHOA_ENST00000422781.1_Missense_Mutation_p.R5W|RHOA_ENST00000454011.2_Missense_Mutation_p.R5W	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	5					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTTTCTTCCGGATGGCAGCC	0.473																																					p.R5W		Atlas-SNP	.											RHOA,NS,lymphoid_neoplasm,+1,7	RHOA	46	7	0			c.C13T						PASS	.						103	95	98					3																	49413010		2203	4300	6503	SO:0001583	missense	387	exon2			TCTTCCGGATGGC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.13C>T	3.37:g.49413010G>A	ENSP00000400175:p.Arg5Trp	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	93	43	0.462366	NM_001664	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961576	0.53400	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.72051	-0.45;1.68;-0.48;-0.62;2.04	5.89	-0.78	0.10969	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.69904	0.3163	M	0.78344	2.41	0.80722	D	1	B	0.24920	0.114	B	0.17098	0.017	T	0.67130	-0.5748	10	0.59425	D	0.04	.	17.5915	0.87998	0.0:0.0:0.2927:0.7073	.	5	P61586	RHOA_HUMAN	W	5	ENSP00000400175:R5W;ENSP00000394483:R5W;ENSP00000413587:R5W;ENSP00000408402:R5W;ENSP00000400747:R5W	ENSP00000400175:R5W	R	-	1	2	RHOA	49388014	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	0.905000	0.28504	-0.467000	0.06932	-0.318000	0.08688	CGG	.	.	none		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		A	49413010	G	A	49413010	3	1	7	1	0	0	0	0	1	0	0	0	13331	1115	39	1	584	1	RHOA	3	49413010	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		49413010	148609420	36	1365										
RNF123	63891	hgsc.bcm.edu	37	chr3	49751413	49751413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gggcccagaccaactggatcCtggtgcggctctggagggta	16	11	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:49751413C>T	ENST00000327697.6	+	30	3052	c.2908C>T	c.(2908-2910)Ctg>Ttg	p.L970L	RNF123_ENST00000433785.1_Silent_p.L82L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	970					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAACTGGATCCTGGTGCGGCT	0.662																																					p.L970L		Atlas-SNP	.											.	RNF123	100	.	0			c.C2908T						PASS	.						57	62	60					3																	49751413		2203	4300	6503	SO:0001819	synonymous_variant	63891	exon30			TGGATCCTGGTGC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2908C>T	3.37:g.49751413C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																			.	.	none		0.662	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		T	49751413	C	T	49751413	2	4	7	1	0	0	0	0	0	0	0	1	13433	680	24	2		2	RNF123	3	49751413	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	338403	49751413	148271017	37	1366										
OR5H14	403273	hgsc.bcm.edu	37	chr3	97868377	97868377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttggtctgattgctgtcatcTggaaagaccctcatcttcat	8	10	6	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:97868377T>C	ENST00000437310.1	+	1	208	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	50						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGTCATCTGGAAAGACCC	0.403																																					p.W50R		Atlas-SNP	.											OR5H14,NS,malignant_melanoma,-2,1	OR5H14	56	1	0			c.T148C						scavenged	.						311	313	312					3																	97868377		2203	4300	6503	SO:0001583	missense	403273	exon1			GTCATCTGGAAAG		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.148T>C	3.37:g.97868377T>C	ENSP00000401706:p.Trp50Arg	Somatic	383	3	0.0078329		WXS	Illumina HiSeq	Phase_I	390	5	0.0128205	NM_001005514	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	3.061	-0.193169	0.06259	.	.	ENSG00000236032	ENST00000437310	T	0.03801	3.8	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.993003	0.08167	N	0.987570	T	0.06142	0.0159	N	0.10760	0.04	0.09310	N	1	D	0.56968	0.978	P	0.58266	0.836	T	0.50101	-0.8867	10	0.25106	T	0.35	.	8.4219	0.32705	0.0:0.0:0.0:1.0	.	50	A6NHG9	O5H14_HUMAN	R	50	ENSP00000401706:W50R	ENSP00000401706:W50R	W	+	1	0	OR5H14	99351067	0.000000	0.05858	0.995000	0.50966	0.396000	0.30629	-0.007000	0.12810	1.132000	0.42129	0.164000	0.16699	TGG	.	.	none		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97868377	T	C	97868377	3	2	7	1	0	0	0	0	1	0	0	0	11160	1580	55	3	150	3	OR5H14	3	97868377	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	48116964	97868377	100154053	38	1367										
ZBTB20	26137	hgsc.bcm.edu	37	chr3	114070301	114070301	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtgccccgcggcgtgtcctgGcccgagtcctggatccccgg	15	17	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:114070301G>C	ENST00000474710.1	-	4	802	c.624C>G	c.(622-624)ggC>ggG	p.G208G	ZBTB20_ENST00000464560.1_Silent_p.G135G|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.G135G|ZBTB20_ENST00000481632.1_Silent_p.G135G|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.G135G|ZBTB20_ENST00000393785.2_Silent_p.G135G|ZBTB20_ENST00000471418.1_Silent_p.G135G	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	208						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCGTGTCCTGGCCCGAGTCCT	0.657																																					p.G208G	NSCLC(69;748 1344 9802 11203 30933)	Atlas-SNP	.											.	ZBTB20	157	.	0			c.C624G						PASS	.						68	61	63					3																	114070301		2203	4300	6503	SO:0001819	synonymous_variant	26137	exon4			GTCCTGGCCCGAG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.624C>G	3.37:g.114070301G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	33	12	0.363636	NM_001164342	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																			.	.	none		0.657	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		C	114070301	G	C	114070301	2	2	7	1	0	0	0	0	0	0	0	1	17526	1190	42	4		4	ZBTB20	3	114070301	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	16201924	114070301	83952129	39	1368										
GOLGB1	2804	hgsc.bcm.edu	37	chr3	121414039	121414039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgtttctcggtggcctctagGttagcttgtttagatacatt	10	7	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:121414039G>A	ENST00000340645.5	-	13	5441	c.5316C>T	c.(5314-5316)aaC>aaT	p.N1772N	GOLGB1_ENST00000393667.3_Silent_p.N1777N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1772					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)		TGGCCTCTAGGTTAGCTTGTT	0.398																																					p.N1777N		Atlas-SNP	.											.	GOLGB1	319	.	0			c.C5331T						PASS	.						301	281	287					3																	121414039		2203	4300	6503	SO:0001819	synonymous_variant	2804	exon13			CTCTAGGTTAGCT	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.5316C>T	3.37:g.121414039G>A		Somatic	342	1	0.00292398		WXS	Illumina HiSeq	Phase_I	361	141	0.390582	NM_001256486	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																			.	.	none		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121414039	G	A	121414039	2	1	7	1	0	0	0	0	0	0	0	1	6565	1252	44	2		2	GOLGB1	3	121414039	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	7343738	121414039	76608391	40	1369										
XRN1	54464	hgsc.bcm.edu	37	chr3	142090122	142090122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	caaatgtcatcttcatagaaCacatcctcttggctattttt	4	10	4	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:142090122C>T	ENST00000264951.4	-	26	3144	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V	XRN1_ENST00000392981.2_Silent_p.V1009V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1009					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCATAGAACACATCCTCTT	0.313																																					p.V1009V		Atlas-SNP	.											.	XRN1	138	.	0			c.G3027A						PASS	.						93	92	92					3																	142090122		2202	4300	6502	SO:0001819	synonymous_variant	54464	exon26			ATAGAACACATCC	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3027G>A	3.37:g.142090122C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_001042604	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																			.	.	none		0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142090122	C	T	142090122	2	4	7	1	0	0	0	0	0	0	0	1	17456	465	17	2		2	XRN1	3	142090122	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	20676083	142090122	55932308	41	1370										
FAM194A	131831	hgsc.bcm.edu	37	chr3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cccccaccaactcctcctccAccacctcctcctcctcctcc	0	28	0	0	rs573303855	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:150421519A>T	ENST00000295910.6	-	1	219	c.167T>A	c.(166-168)gTg>gAg	p.V56E	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.V56E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctccaccacctcctc	0.607													A|||	41	0.0081869	0.0091	0.0144	5008	,	,		1681	0.0069		0.0089	False		,,,				2504	0.0031				p.V56E		Atlas-SNP	.											FAM194A,NS,carcinoma,0,1	FAM194A	91	1	1	Substitution - Missense(1)	endometrium(1)	c.T167A						scavenged	.						198	156	171					3																	150421519		2203	4299	6502	SO:0001583	missense	131831	exon1			TCCTCCACCACCT																												ENST00000295910.6:c.167T>A	3.37:g.150421519A>T	ENSP00000295910:p.Val56Glu	Somatic	40	2	0.05		WXS	Illumina HiSeq	Phase_I	52	5	0.0961538	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	A	4.695	0.129296	0.08981	.	.	ENSG00000163645	ENST00000295910	T	0.13538	2.58	3.11	-4.8	0.03190	.	1.710190	0.03876	N	0.276462	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.29181	-1.0020	10	0.02654	T	1	-0.1027	0.7864	0.01049	0.1614:0.2002:0.316:0.3224	.	56	Q7L0X2	F194A_HUMAN	E	56	ENSP00000295910:V56E	ENSP00000295910:V56E	V	-	2	0	FAM194A	151904209	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.158000	0.03153	-0.978000	0.03533	-0.472000	0.04984	GTG	.	.	none		0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			T	150421519	A	T	150421519	3	4	7	1	0	0	0	0	1	0	0	0	5526	159	6	5	1880	5	FAM194A	3	150421519	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	8331397	150421519	47600911	42	1371										
PEX5L	51555	hgsc.bcm.edu	37	chr3	179537727	179537727	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcctccgagccatttcttccCattctgcttgcatcttatcc	4	16	3	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr3:179537727C>T	ENST00000467460.1	-	9	1190	c.860G>A	c.(859-861)tGg>tAg	p.W287*	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.W179*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.W244*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.W252*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.W285*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.W228*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.W263*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.W179*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.W95*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	287					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CATTTCTTCCCATTCTGCTTG	0.428																																					p.W287X		Atlas-SNP	.											.	PEX5L	104	.	0			c.G860A						PASS	.						208	185	193					3																	179537727		2203	4300	6503	SO:0001587	stop_gained	51555	exon9			TCTTCCCATTCTG	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.860G>A	3.37:g.179537727C>T	ENSP00000419975:p.Trp287*	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	250	98	0.392	NM_016559	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Nonsense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	38	6.700758	0.97772	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2226	18.9841	0.92763	0.0:1.0:0.0:0.0	.	.	.	.	X	287;285;252;285;179;95;244;175;228;179;263	.	ENSP00000263962:W285X	W	-	2	0	PEX5L	181020421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.185000	0.77714	2.593000	0.87608	0.655000	0.94253	TGG	.	.	none		0.428	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		T	179537727	C	T	179537727	4	4	7	1	0	0	0	0	0	1	0	0	11749	595	21	2	1048	2	PEX5L	3	179537727	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	29116208	179537727	18484703	43	1372										
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228424	4228424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctgctcagcatctcggccagTttctgtgggacgctggcgcg	14	13	3	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr4:4228424T>C	ENST00000296358.4	-	1	192	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	56					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTCGGCCAGTTTCTGTGGGA	0.741																																					p.K56K		Atlas-SNP	.											OTOP1,caecum,carcinoma,-1,2	OTOP1	118	2	0			c.A168G						scavenged	.						7	7	7					4																	4228424		2122	4154	6276	SO:0001819	synonymous_variant	133060	exon1			GGCCAGTTTCTGT	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.168A>G	4.37:g.4228424T>C		Somatic	38	1	0.0263158		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_177998	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.	.	weak		0.741	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228424	T	C	4228424	2	2	7	1	0	0	0	0	0	0	0	1	11305	1722	60	2		2	OTOP1	4	4228424	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10		4228424	186925852	44	1373										
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228479	4228479	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggggggccggggattccgggGacctcggggccgaggacgag	23	10	0	0	rs199890951		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr4:4228479G>C	ENST00000296358.4	-	1	137	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	38					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ggATTCCGGGGACCTCGGGGC	0.746																																					p.S38C		Atlas-SNP	.											OTOP1,NS,carcinoma,0,1	OTOP1	118	1	0			c.C113G						scavenged	.						3	3	3					4																	4228479		1773	3481	5254	SO:0001583	missense	133060	exon1			TCCGGGGACCTCG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.113C>G	4.37:g.4228479G>C	ENSP00000296358:p.Ser38Cys	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	27	3	0.111111	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	7.656	0.683978	0.14907	.	.	ENSG00000163982	ENST00000296358	T	0.08896	3.04	2.01	0.00709	0.14069	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.31390	0.129	T	0.44559	-0.9320	9	0.49607	T	0.09	-0.0197	7.5462	0.27768	0.0:0.5332:0.4668:0.0	.	38	Q7RTM1	OTOP1_HUMAN	C	38	ENSP00000296358:S38C	ENSP00000296358:S38C	S	-	2	0	OTOP1	4279380	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.411000	0.21115	-0.016000	0.14127	-0.472000	0.04984	TCC	.	.	weak		0.746	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228479	G	C	4228479	3	2	7	1	0	0	0	0	1	0	0	0	11305	1174	41	4	1749	4	OTOP1	4	4228479	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	55	4228479	186925797	45	1374										
TECRL	253017	hgsc.bcm.edu	37	chr4	65165691	65165691	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aaatatatatatgatacataCcagaaaattgatagcagata	5	4	0	4			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr4:65165691C>A	ENST00000381210.3	-	8	885		c.e8+1		TECRL_ENST00000513125.1_Splice_Site|TECRL_ENST00000507440.1_Splice_Site	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGATACATACCAGAAAATTG	0.299																																					.		Atlas-SNP	.											.	TECRL	106	.	0			c.774+1G>T						PASS	.						115	127	123					4																	65165691		2203	4294	6497	SO:0001630	splice_region_variant	253017	exon9			TACATACCAGAAA	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.774+1G>T	4.37:g.65165691C>A		Somatic	361	1	0.00277008		WXS	Illumina HiSeq	Phase_I	398	159	0.399497	NM_001010874		Splice_Site	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376796	0.61735	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8349	0.78791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TECRL	64848286	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.791000	0.62460	2.592000	0.87571	0.460000	0.39030	.	.	.	none		0.299	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	Intron	A	65165691	C	A	65165691	5	1	7	1	0	0	0	0	0	0	1	0	15743	521	18	4	336	4	TECRL	4	65165691	Splice_Site	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	60937212	65165691	125988585	46	1375										
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77661110	77661110	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aaagagcacccacagtaacaAaccatcttctcatccccaca	3	16	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr4:77661110A>T	ENST00000296043.6	+	5	2737	c.1784A>T	c.(1783-1785)aAa>aTa	p.K595I		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	595					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CACAGTAACAAACCATCTTCT	0.557																																					p.K595I		Atlas-SNP	.											.	SHROOM3	134	.	0			c.A1784T						PASS	.						211	199	203					4																	77661110		2203	4300	6503	SO:0001583	missense	57619	exon5			GTAACAAACCATC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1784A>T	4.37:g.77661110A>T	ENSP00000296043:p.Lys595Ile	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	59	23	0.38983	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	7.364	0.625411	0.14257	.	.	ENSG00000138771	ENST00000296043	T	0.21191	2.02	5.46	-5.81	0.02340	.	2.025370	0.02041	N	0.049271	T	0.15392	0.0371	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30763	0.294;0.139;0.139	B;B;B	0.30251	0.113;0.037;0.037	T	0.32322	-0.9911	10	0.72032	D	0.01	-1.1685	1.9131	0.03291	0.2337:0.2642:0.3582:0.144	.	419;595;373	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	I	595	ENSP00000296043:K595I	ENSP00000296043:K595I	K	+	2	0	SHROOM3	77880134	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.720000	0.04969	-0.486000	0.06744	0.379000	0.24179	AAA	.	.	none		0.557	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77661110	A	T	77661110	3	4	7	1	0	0	0	0	1	0	0	0	14295	14	1	5	1802	5	SHROOM3	4	77661110	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	12495419	77661110	113493166	47	1376										
FAM190A	401145	hgsc.bcm.edu	37	chr4	92519732	92519732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcttaccataggctacatatCgaaatcgaattgtgagccaa	7	9	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr4:92519732C>T	ENST00000509176.1	+	11	2515	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*	CCSER1_ENST00000333691.8_Nonsense_Mutation_p.R743*	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	743																	GGCTACATATCGAAATCGAAT	0.388																																					p.R743X		Atlas-SNP	.											.	.	.	.	0			c.C2227T						PASS	.						39	34	36					4																	92519732		692	1591	2283	SO:0001587	stop_gained	401145	exon11			ACATATCGAAATC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2227C>T	4.37:g.92519732C>T	ENSP00000425040:p.Arg743*	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	29	0.432836	NM_001145065	Q4W5M0|Q86V57	Nonsense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852994	0.98525	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	.	.	.	5.77	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-3.0095	14.0425	0.64684	0.0:0.9266:0.0:0.0734	.	.	.	.	X	743	.	ENSP00000329482:R743X	R	+	1	2	FAM190A	92738755	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	3.685000	0.54678	2.890000	0.99128	0.650000	0.86243	CGA	.	.	none		0.388	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	92519732	C	T	92519732	4	4	7	1	0	0	0	0	0	1	0	0	5521	876	31	1	2293	1	FAM190A	4	92519732	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	14858622	92519732	98634544	48	1377										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23527595	23527595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtcaccagaggacacacacaGgggagaagccctatgtctgc	12	12	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:23527595G>T	ENST00000296682.3	+	11	2580	c.2398G>T	c.(2398-2400)Ggg>Tgg	p.G800W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	800					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GACACACACAGGGGAGAAGCC	0.567										HNSCC(3;0.000094)																											p.G800W		Atlas-SNP	.											PRDM9,NS,carcinoma,-1,1	PRDM9	344	1	0			c.G2398T						scavenged	.						76	76	76					5																	23527595		2191	4296	6487	SO:0001583	missense	56979	exon11			CACACAGGGGAGA	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2398G>T	5.37:g.23527595G>T	ENSP00000296682:p.Gly800Trp	Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	172	102	0.593023	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203927	0.58234	.	.	ENSG00000164256	ENST00000296682	T	0.26810	1.71	3.07	3.07	0.35406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62575	0.2439	H	0.96691	3.865	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	T	0.75425	-0.3322	9	0.87932	D	0	.	12.3824	0.55313	0.0:0.0:1.0:0.0	.	800	Q9NQV7	PRDM9_HUMAN	W	800	ENSP00000296682:G800W	ENSP00000296682:G800W	G	+	1	0	PRDM9	23563352	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	4.641000	0.61375	2.033000	0.60031	0.465000	0.42564	GGG	.	.	none		0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527595	G	T	23527595	3	4	7	1	0	0	0	0	1	0	0	0	12463	1000	35	4	2436	4	PRDM9	5	23527595	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		23527595	157387665	49	1378										
C7	730	hgsc.bcm.edu	37	chr5	40958155	40958155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctgacacctttatatgagctGgtaaaggaagtaccttgtgc	10	8	0	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:40958155G>A	ENST00000313164.9	+	11	1640	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	427	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TATATGAGCTGGTAAAGGAAG	0.403																																					p.L427L		Atlas-SNP	.											.	C7	136	.	0			c.G1281A						PASS	.						84	76	79					5																	40958155		1854	4084	5938	SO:0001819	synonymous_variant	730	exon11			TGAGCTGGTAAAG	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1281G>A	5.37:g.40958155G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	122	44	0.360656	NM_000587	Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	CCDS47201.1																																																																																			.	.	none		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40958155	G	A	40958155	2	1	7	1	0	0	0	0	0	0	0	1	2375	1335	47	2		2	C7	5	40958155	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	17430560	40958155	139957105	50	1379										
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	41038932	41038932	+	Missense_Mutation	SNP	G	G	T													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgggagcatggagggccactGctccatagatgaccatgaca							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:41038932G>T	ENST00000399564.4	-	21	2570	c.2120C>A	c.(2119-2121)gCa>gAa	p.A707E	MROH2B_ENST00000506092.2_Missense_Mutation_p.A262E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	707																	GAGGGCCACTGCTCCATAGAT	0.468																																					p.A707E		Atlas-SNP	.											.	.	.	.	0			c.C2120A						PASS	.						76	74	75					5																	41038932		1891	4108	5999	SO:0001583	missense	133558	exon21			GCCACTGCTCCAT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2120C>A	5.37:g.41038932G>T	ENSP00000382476:p.Ala707Glu	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	65	18	0.276923	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.769	0.510869	0.12883	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	5.01;-0.2	5.93	2.03	0.26663	Armadillo-type fold (1);	0.920724	0.09128	N	0.844815	T	0.45617	0.1351	L	0.44542	1.39	0.09310	N	1	P	0.35272	0.493	B	0.27380	0.079	T	0.32561	-0.9902	10	0.32370	T	0.25	.	3.4263	0.07412	0.1609:0.1346:0.5664:0.138	.	707	Q7Z745	HTRB2_HUMAN	E	262;412;707	ENSP00000441504:A262E;ENSP00000382476:A707E	ENSP00000296803:A412E	A	-	2	0	HEATR7B2	41074689	0.002000	0.14202	0.055000	0.19348	0.200000	0.23975	1.065000	0.30592	0.857000	0.35407	0.655000	0.94253	GCA	.	.	none		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41038932	G	T	41038932	3	4	7	1	0	0	0	0	1	0	0	0	7035	1319	46	4	2725	4	HEATR7B2	5	41038932	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	80777	41038932	139876328	51	1380	33	2								
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	41038933	41038933	+	Missense_Mutation	SNP	C	C	T													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gggagcatggagggccactgCtccatagatgaccatgacat							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:41038933C>T	ENST00000399564.4	-	21	2569	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	MROH2B_ENST00000506092.2_Missense_Mutation_p.A262T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	707																	AGGGCCACTGCTCCATAGATG	0.463																																					p.A707T		Atlas-SNP	.											.	.	.	.	0			c.G2119A						PASS	.						77	74	75					5																	41038933		1891	4107	5998	SO:0001583	missense	133558	exon21			CCACTGCTCCATA		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2119G>A	5.37:g.41038933C>T	ENSP00000382476:p.Ala707Thr	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	66	18	0.272727	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	7.393	0.631255	0.14322	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67523	4.99;-0.27	5.93	0.268	0.15626	Armadillo-type fold (1);	0.920724	0.09128	N	0.844815	T	0.49355	0.1552	L	0.44542	1.39	0.09310	N	1	B	0.31548	0.328	B	0.24394	0.053	T	0.29488	-1.0010	10	0.24483	T	0.36	.	3.8653	0.09013	0.4933:0.2968:0.1285:0.0814	.	707	Q7Z745	HTRB2_HUMAN	T	262;412;707	ENSP00000441504:A262T;ENSP00000382476:A707T	ENSP00000296803:A412T	A	-	1	0	HEATR7B2	41074690	0.000000	0.05858	0.074000	0.20217	0.205000	0.24178	-0.383000	0.07398	0.367000	0.24454	0.655000	0.94253	GCA	.	.	none		0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41038933	C	T	41038933	3	4	7	1	0	0	0	0	1	0	0	0	7035	797	28	2	2726	2	HEATR7B2	5	41038933	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	1	41038933	139876327	52	1381	33	2								
FTMT	94033	hgsc.bcm.edu	37	chr5	121188183	121188183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aacgtgaaccagtcgttgctGgaattgcacgctctagcctc	10	12	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:121188183G>A	ENST00000321339.1	+	1	534	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	175	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGTCGTTGCTGGAATTGCACG	0.502																																					p.L175L		Atlas-SNP	.											.	FTMT	71	.	0			c.G525A						PASS	.						133	123	126					5																	121188183		2203	4300	6503	SO:0001819	synonymous_variant	94033	exon1			GTTGCTGGAATTG	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.525G>A	5.37:g.121188183G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	67	39	0.58209	NM_177478		Silent	SNP	ENST00000321339.1	37	CCDS4128.1																																																																																			.	.	none		0.502	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121188183	G	A	121188183	2	1	7	1	0	0	0	0	0	0	0	1	6085	1335	47	2		2	FTMT	5	121188183	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	80149250	121188183	59727077	53	1382										
IRF1	3659	hgsc.bcm.edu	37	chr5	131825149	131825149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	catctctagccagggtctcaTgcgcatccgagtgatgggca	12	12	2	1	rs121912469		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:131825149T>C	ENST00000245414.4	-	2	280	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	IRF1_ENST00000405885.2_Missense_Mutation_p.M8V|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	8			M -> L (in GASC; somatic mutation; produces a protein with markedly reduced transcriptional activity but unaltered DNA-binding activity). {ECO:0000269|PubMed:9679752}.		apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CAGGGTCTCATGCGCATCCGA	0.507																																					p.M8V		Atlas-SNP	.											.	IRF1	26	.	0			c.A22G						PASS	.						93	92	93					5																	131825149		2203	4300	6503	SO:0001583	missense	3659	exon2			GTCTCATGCGCAT		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.22A>G	5.37:g.131825149T>C	ENSP00000245414:p.Met8Val	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	101	71	0.70297	NM_002198	Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203638	0.58234	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	M	0.87827	2.91	0.80722	D	1	P;P	0.43352	0.744;0.804	P;B	0.53490	0.727;0.402	D	0.99568	1.0970	10	0.87932	D	0	-29.6414	16.0664	0.80878	0.0:0.0:0.0:1.0	.	8;8	Q5FBX3;P10914	.;IRF1_HUMAN	V	8	ENSP00000245414:M8V;ENSP00000384406:M8V;ENSP00000405655:M8V;ENSP00000396318:M8V	ENSP00000245414:M8V	M	-	1	0	IRF1	131853048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.112000	0.71547	2.254000	0.74563	0.459000	0.35465	ATG	.	.	alt		0.507	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		C	131825149	T	C	131825149	3	2	7	1	0	0	0	0	1	0	0	0	7827	1464	51	2	991	2	IRF1	5	131825149	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	10636966	131825149	49090111	54	1383										
ANKHD1	54882	hgsc.bcm.edu	37	chr5	139887371	139887371	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agcacatttccccctttaggActgggagtaaactaggtatt	9	9	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:139887371A>G	ENST00000360839.2	+	20	3707	c.3553A>G	c.(3553-3555)Act>Gct	p.T1185A	ANKHD1_ENST00000297183.6_Splice_Site_p.T1185A|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.T1185A	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1185						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTTTAGGACTGGGAGTAA	0.363																																					p.T1185A		Atlas-SNP	.											.	ANKHD1	233	.	0			c.A3553G						PASS	.						63	61	61					5																	139887371		2203	4300	6503	SO:0001630	splice_region_variant	54882	exon20			TTTAGGACTGGGA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3552-1A>G	5.37:g.139887371A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	135	81	0.6	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564615	0.86439	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.68624	-0.29;-0.33;-0.25;-0.34;-0.33	5.72	5.72	0.89469	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.80508	2.5	0.80722	D	1	P;P;P;D;D	0.69078	0.88;0.945;0.587;0.997;0.992	P;P;B;D;D	0.79108	0.771;0.619;0.444;0.992;0.989	D	0.84613	0.0679	10	0.62326	D	0.03	.	16.3625	0.83273	1.0:0.0:0.0:0.0	.	396;1185;1204;1185;1185	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	A	1185;1218;1185;1185;719;396;1204;338;1185	ENSP00000354085:T1185A;ENSP00000297183:T1185A;ENSP00000394489:T1204A;ENSP00000405602:T338A;ENSP00000432016:T1185A	ENSP00000432016:T1185A	T	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139867555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.306000	0.96204	2.319000	0.78375	0.524000	0.50904	ACT	.	.	none		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	Missense_Mutation	G	139887371	A	G	139887371	5	3	7	1	0	0	0	0	0	0	1	0	628	289	10	2	3737	2	ANKHD1	5	139887371	Splice_Site	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	8062222	139887371	41027889	55	1384										
CD14	929	hgsc.bcm.edu	37	chr5	140011945	140011945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gccgccatcagtccgcgttcGcccagtccaggattgtcaga	11	15	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:140011945G>A	ENST00000302014.6	-	2	1253	c.624C>T	c.(622-624)ggC>ggT	p.G208G	CD14_ENST00000401743.2_Silent_p.G208G	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	208					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCGCGTTCGCCCAGTCCAG	0.617																																					p.G208G		Atlas-SNP	.											.	CD14	20	.	0			c.C624T						PASS	.						56	61	59					5																	140011945		2203	4300	6503	SO:0001819	synonymous_variant	929	exon3			GCGTTCGCCCAGT		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.624C>T	5.37:g.140011945G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_001174105	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	CCDS4232.1																																																																																			.	.	none		0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		A	140011945	G	A	140011945	2	1	7	1	0	0	0	0	0	0	0	1	2964	1074	38	1		1	CD14	5	140011945	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	124574	140011945	40903315	56	1385										
KIF4B	285643	hgsc.bcm.edu	37	chr5	154395805	154395805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agaatccacctcctaaactcCggaagtgtacattctccctt	5	14	1	1	rs193075545		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:154395805C>T	ENST00000435029.4	+	1	2546	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	796	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCTAAACTCCGGAAGTGTAC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		21789	0.0		0.001	False		,,,				2504	0.0				p.R796W		Atlas-SNP	.											.	KIF4B	307	.	0			c.C2386T						PASS	.						45	48	47					5																	154395805		2197	4299	6496	SO:0001583	missense	285643	exon1			AAACTCCGGAAGT	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2386C>T	5.37:g.154395805C>T	ENSP00000387875:p.Arg796Trp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	149	80	0.536913	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	8.273	0.813896	0.16537	.	.	ENSG00000226650	ENST00000435029	T	0.69926	-0.44	1.48	0.588	0.17445	.	.	.	.	.	T	0.71230	0.3315	L	0.61218	1.895	0.58432	D	0.999994	D	0.76494	0.999	P	0.60886	0.88	T	0.68213	-0.5468	9	0.56958	D	0.05	.	6.1007	0.20045	0.0:0.8141:0.0:0.1858	.	796	Q2VIQ3	KIF4B_HUMAN	W	796	ENSP00000387875:R796W	ENSP00000387875:R796W	R	+	1	2	KIF4B	154375998	0.985000	0.35326	0.652000	0.29579	0.146000	0.21551	0.570000	0.23653	0.200000	0.20447	-0.222000	0.12452	CGG	C|1.000;T|0.000	0.000	strong		0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154395805	C	T	154395805	3	4	7	1	0	0	0	0	1	0	0	0	8304	643	23	1	2388	1	KIF4B	5	154395805	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	14383860	154395805	26519455	57	1386										
HMMR	3161	hgsc.bcm.edu	37	chr5	162894753	162894753	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tttgaagatattagagaaagAggtaagcagtgctttaaact	10	3	0	4			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:162894753A>C	ENST00000358715.3	+	4	305	c.269A>C	c.(268-270)gAg>gCg	p.E90A	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000393915.4_Splice_Site_p.E91A|HMMR_ENST00000432118.2_Intron			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	90					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTAGAGAAAGAGGTAAGCAGT	0.328																																					p.E91A		Atlas-SNP	.											.	HMMR	64	.	0			c.A272C						PASS	.						40	40	40					5																	162894753		2203	4295	6498	SO:0001630	splice_region_variant	3161	exon4			AGAAAGAGGTAAG	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.270+1A>C	5.37:g.162894753A>C		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	415	95	0.228916	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526392	0.64860	.	.	ENSG00000072571	ENST00000393915;ENST00000426586;ENST00000358715	T;T	0.78364	-1.17;-1.17	5.98	4.8	0.61643	.	0.092606	0.64402	D	0.000001	D	0.86209	0.5878	M	0.74258	2.255	0.42286	D	0.992116	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86671	0.1910	10	0.72032	D	0.01	-19.9829	10.1931	0.43039	0.833:0.167:0.0:0.0	.	91;90	O75330-3;O75330	.;HMMR_HUMAN	A	91;91;90	ENSP00000377492:E91A;ENSP00000351554:E90A	ENSP00000351554:E90A	E	+	2	0	HMMR	162827331	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.080000	0.57620	1.047000	0.40274	0.482000	0.46254	GAG	.	.	none		0.328	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	Missense_Mutation	C	162894753	A	C	162894753	5	2	7	1	0	0	0	0	0	0	1	0	7242	318	11	5	286	5	HMMR	5	162894753	Splice_Site	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	8498948	162894753	18020507	58	1387										
FBXW11	23291	hgsc.bcm.edu	37	chr5	171305089	171305089	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cagaggacagagcctgtgtgTcctgttaacactttcaaaca	9	10	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr5:171305089T>A	ENST00000265094.5	-	7	971	c.834A>T	c.(832-834)ggA>ggT	p.G278G	FBXW11_ENST00000296933.6_Silent_p.G265G|FBXW11_ENST00000393802.2_Silent_p.G244G|FBXW11_ENST00000425623.2_Silent_p.G246G|FBXW11_ENST00000522891.1_5'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	278					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCCTGTGTGTCCTGTTAACA	0.398																																					p.G278G		Atlas-SNP	.											.	FBXW11	72	.	0			c.A834T						PASS	.						109	95	100					5																	171305089		2203	4300	6503	SO:0001819	synonymous_variant	23291	exon7			TGTGTGTCCTGTT	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.834A>T	5.37:g.171305089T>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	171	36	0.210526	NM_012300	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	CCDS34289.1																																																																																			.	.	none		0.398	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		A	171305089	T	A	171305089	2	1	7	1	0	0	0	0	0	0	0	1	5764	1654	58	5		5	FBXW11	5	171305089	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	8410336	171305089	9610171	59	1388										
SERPINB9	5272	hgsc.bcm.edu	37	chr6	2890535	2890535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	actacaaagcagctcgacgcTgccgctgcctcggtgccttc	10	16	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:2890535T>C	ENST00000380698.4	-	7	1082	c.993A>G	c.(991-993)gcA>gcG	p.A331A		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	331					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGCTCGACGCTGCCGCTGCCT	0.542																																					p.A331A		Atlas-SNP	.											.	SERPINB9	37	.	0			c.A993G						PASS	.						104	91	95					6																	2890535		2203	4300	6503	SO:0001819	synonymous_variant	5272	exon7			CGACGCTGCCGCT	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.993A>G	6.37:g.2890535T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	92	72	0.782609	NM_004155	B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	CCDS4478.1																																																																																			.	.	none		0.542	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			C	2890535	T	C	2890535	2	2	7	1	0	0	0	0	0	0	0	1	14108	1567	55	3		3	SERPINB9	6	2890535	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10		2890535	168224532	60	1389										
KIF13A	63971	hgsc.bcm.edu	37	chr6	17788042	17788042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctttttttatctgttcatccAggtattctcgtcgtttaatg	6	8	3	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:17788042A>C	ENST00000259711.6	-	27	3431	c.3326T>G	c.(3325-3327)cTg>cGg	p.L1109R	KIF13A_ENST00000378814.5_Missense_Mutation_p.L1096R|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1109R|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1109R|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1096R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1109					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTGTTCATCCAGGTATTCTCG	0.398																																					p.L1109R		Atlas-SNP	.											.	KIF13A	276	.	0			c.T3326G						PASS	.						321	294	302					6																	17788042		1889	4121	6010	SO:0001583	missense	63971	exon27			TCATCCAGGTATT	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3326T>G	6.37:g.17788042A>C	ENSP00000259711:p.Leu1109Arg	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	177	71	0.40113	NM_001105566	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.2|26.2	4.710033|4.710033	0.89018|0.89018	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	D;T;D;D;D;D|.	0.82255|.	-1.57;0.67;-1.59;-1.56;-1.57;-1.55|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.70649|0.70649	0.3248|0.3248	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.999|.	T|T	0.72418|0.72418	-0.4300|-0.4300	10|5	0.87932|.	D|.	0|.	.|.	16.3245|16.3245	0.82970|0.82970	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1096;1109;1109;1096|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	R|G	1096;113;1109;1109;1096;1109;107|503	ENSP00000368091:L1096R;ENSP00000425616:L113R;ENSP00000259711:L1109R;ENSP00000368103:L1109R;ENSP00000368120:L1096R;ENSP00000368093:L1109R|.	ENSP00000259711:L1109R|.	L|W	-|-	2|1	0|0	KIF13A|KIF13A	17896021|17896021	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.956000|0.956000	0.61745|0.61745	9.287000|9.287000	0.95975|0.95975	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	CTG|TGG	.	.	none		0.398	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			C	17788042	A	C	17788042	3	2	7	1	0	0	0	0	1	0	0	0	8274	188	7	5	2168	5	KIF13A	6	17788042	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	14897507	17788042	153327025	61	1390										
SCGN	10590	hgsc.bcm.edu	37	chr6	25701447	25701447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gccctcagcccagcatcagcGgggtggaccttgataagttc	12	13	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:25701447G>A	ENST00000377961.2	+	11	883	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	239						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGCATCAGCGGGGTGGACCT	0.512																																					p.G239R		Atlas-SNP	.											SCGN,NS,carcinoma,0,1	SCGN	57	1	0			c.G715A						PASS	.						100	87	91					6																	25701447		2203	4300	6503	SO:0001583	missense	10590	exon11			ATCAGCGGGGTGG	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.715G>A	6.37:g.25701447G>A	ENSP00000367197:p.Gly239Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	68	0.894737	NM_006998	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377577	0.82682	.	.	ENSG00000079689	ENST00000377961	D	0.85773	-2.03	5.43	5.43	0.79202	EF-hand-like domain (1);	0.048878	0.85682	D	0.000000	T	0.76471	0.3992	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.47981	0.563	T	0.74589	-0.3615	10	0.16896	T	0.51	.	17.9971	0.89187	0.0:0.0:1.0:0.0	.	239	O76038	SEGN_HUMAN	R	239	ENSP00000367197:G239R	ENSP00000367197:G239R	G	+	1	0	SCGN	25809426	1.000000	0.71417	0.948000	0.38648	0.989000	0.77384	7.758000	0.85224	2.518000	0.84900	0.655000	0.94253	GGG	.	.	none		0.512	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			A	25701447	G	A	25701447	3	1	7	1	0	0	0	0	1	0	0	0	13903	1116	39	1	757	1	SCGN	6	25701447	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	7913405	25701447	145413620	62	1391										
HIST1H3B	8358	hgsc.bcm.edu	37	chr6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	actttacatttacgctctttCtccgcgaatgcggcgagcga	9	12	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458																																					p.E134Q		Atlas-SNP	.											.	HIST1H3B	59	.	0			c.G400C						PASS	.						58	61	60					6																	26031889		2203	4300	6503	SO:0001583	missense	8358	exon1			CTCTTTCTCCGCG	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>C	6.37:g.26031889C>G	ENSP00000244661:p.Glu134Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	60	51	0.85	NM_003537	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646170	0.47258	.	.	ENSG00000124693	ENST00000244661	T	0.48201	0.82	5.17	5.17	0.71159	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.41871	D	0.990276	.	.	.	.	.	.	T	0.65647	-0.6117	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	Q	134	ENSP00000244661:E134Q	ENSP00000244661:E134Q	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA	.	.	none		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		G	26031889	C	G	26031889	3	3	7	1	0	0	0	0	1	0	0	0	7156	922	32	4	14	4	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	330442	26031889	145083178	63	1392										
HIST1H2BK	85236	hgsc.bcm.edu	37	chr6	27114569	27114569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	17	9	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2BK_ENST00000396891.4_Silent_p.E3E|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																					p.E3E		Atlas-SNP	.											HIST1H2BK_ENST00000396891,NS,carcinoma,-2,2	HIST1H2BK	68	2	0			c.A9G						scavenged	.						51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	85236	exon1			CGCTGGTTCCGGC	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C		Somatic	108	7	0.0648148		WXS	Illumina HiSeq	Phase_I	105	7	0.0666667	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.	.	none		0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		C	27114569	T	C	27114569	2	2	7	1	0	0	0	0	0	0	0	1	7150	1722	60	2		2	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	1082680	27114569	144000498	64	1393										
HIST1H2AM	8336	hgsc.bcm.edu	37	chr6	27860757	27860757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aggatctcggcagttaggtaCtccagcaccgccgccaggta	12	13	1	0	rs140056231		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:27860757C>T	ENST00000359611.2	-	1	206	c.171G>A	c.(169-171)gaG>gaA	p.E57E	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CAGTTAGGTACTCCAGCACCG	0.657																																					p.E57E		Atlas-SNP	.											.	HIST1H2AM	27	.	0			c.G171A						PASS	.						58	65	63					6																	27860757		2202	4300	6502	SO:0001819	synonymous_variant	8336	exon1			TAGGTACTCCAGC	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.171G>A	6.37:g.27860757C>T		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	125	111	0.888	NM_003514	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	CCDS4639.1																																																																																			C|1.000;G|0.000	.	alt		0.657	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		T	27860757	C	T	27860757	2	4	7	1	0	0	0	0	0	0	0	1	7139	564	20	2		2	HIST1H2AM	6	27860757	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	746188	27860757	143254310	65	1394										
PGBD1	84547	hgsc.bcm.edu	37	chr6	28253469	28253469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cacagcgtcctcaagggaacCcccaagaagtgagtggtgag	13	11	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:28253469C>T	ENST00000405948.2	+	3	958	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S	PGBD1_ENST00000259883.3_Missense_Mutation_p.P180S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	180						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCAAGGGAACCCCCAAGAAGT	0.537																																					p.P180S		Atlas-SNP	.											.	PGBD1	106	.	0			c.C538T						PASS	.						83	79	80					6																	28253469		2203	4300	6503	SO:0001583	missense	84547	exon3			GGGAACCCCCAAG	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.538C>T	6.37:g.28253469C>T	ENSP00000385213:p.Pro180Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	57	48	0.842105	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.229706	0.00280	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01446	4.88;4.88	2.37	-1.27	0.09347	.	.	.	.	.	T	0.00384	0.0012	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41197	-0.9522	9	0.16896	T	0.51	.	3.7067	0.08404	0.0:0.4512:0.2324:0.3164	.	180	Q96JS3	PGBD1_HUMAN	S	180	ENSP00000385213:P180S;ENSP00000259883:P180S	ENSP00000259883:P180S	P	+	1	0	PGBD1	28361448	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.800000	0.04555	-0.341000	0.08376	0.557000	0.71058	CCC	.	.	none		0.537	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28253469	C	T	28253469	3	4	7	1	0	0	0	0	1	0	0	0	11780	623	22	2	544	2	PGBD1	6	28253469	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	392712	28253469	142861598	66	1395										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	11	11	3	1	rs139485758	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309				p.Q178H		Atlas-SNP	.											HLA-DRB5,NS,NS,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	NS(1)	c.G534C						scavenged	.						61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127	exon3			TCCATTCTGAATC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His	Somatic	80	4	0.05		WXS	Illumina HiSeq	Phase_I	162	29	0.179012	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	A|0.003;C|0.930;G|0.067	0.067	strong		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	7	1	0	0	0	0	1	0	0	0	7209	912	32	4	282	4	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	4233796	32487265	138627802	67	1396										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgctgcctggatagaaaccaTtcacagagcagaccaggagg	12	10	1	3	rs114293611	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914				p.N149S		Atlas-SNP	.											HLA-DRB5,NS,lymphoid_neoplasm,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A446G						scavenged	.	T	SER/ASN	1237,2619		353,531,1044	42	53	49		446	-9.4	0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127	exon3			AAACCATTCACAG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser	Somatic	70	6	0.0857143		WXS	Illumina HiSeq	Phase_I	57	50	0.877193	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT	T|0.525;C|0.475	0.475	strong		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487353	T	C	32487353	3	2	7	1	0	0	0	0	1	0	0	0	7209	1493	52	2	370	2	HLA-DRB5	6	32487353	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	88	32487353	138627714	68	1397										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32497960	32497960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accatcagtgtcactgtcagCtttgccatgtaggaacctcc	8	13	3	0	rs75457801	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:32497960C>A	ENST00000374975.3	-	1	104	c.42G>T	c.(40-42)aaG>aaT	p.K14N		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.K14K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TCACTGTCAGCTTTGCCATGT	0.582																																					p.K14N		Atlas-SNP	.											HLA-DRB5,colon,carcinoma,-2,2	HLA-DRB5	31	2	1	Substitution - coding silent(1)	stomach(1)	c.G42T						scavenged	.						57	63	61					6																	32497960		2184	4279	6463	SO:0001583	missense	3127	exon1			TGTCAGCTTTGCC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.42G>T	6.37:g.32497960C>A	ENSP00000364114:p.Lys14Asn	Somatic	86	7	0.0813954		WXS	Illumina HiSeq	Phase_I	87	49	0.563218	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	9.217	1.032387	0.19590	.	.	ENSG00000198502	ENST00000374975	T	0.00258	8.41	4.54	-2.98	0.05513	MHC classes I/II-like antigen recognition protein (1);	0.968061	0.08500	N	0.936540	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07809	-1.0753	10	0.87932	D	0	.	7.522	0.27633	0.5447:0.3723:0.0829:0.0	.	14	Q30154	DRB5_HUMAN	N	14	ENSP00000364114:K14N	ENSP00000364114:K14N	K	-	3	2	HLA-DRB5	32605938	0.326000	0.24669	0.001000	0.08648	0.001000	0.01503	0.963000	0.29293	-0.266000	0.09339	-3.775000	0.00021	AAG	A|0.157;C|0.738;T|0.105	0.157	strong		0.582	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		A	32497960	C	A	32497960	3	1	7	1	0	0	0	0	1	0	0	0	7209	796	28	4	782	4	HLA-DRB5	6	32497960	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	10607	32497960	138617107	69	1398										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557477	32557477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	caccatcagtgtcactgtcaGcgctgtcatgcaggagcctc	10	14	4	0	rs150644773	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:32557477G>A	ENST00000360004.5	-	1	148	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	15					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTCACTGTCAGCGCTGTCATG	0.592										Multiple Myeloma(14;0.17)																											p.L15L		Atlas-SNP	.											HLA-DRB1,colon,carcinoma,0,1	HLA-DRB1	41	1	0			c.C43T						scavenged	.						87	106	99					6																	32557477		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon1			CTGTCAGCGCTGT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.43C>T	6.37:g.32557477G>A		Somatic	138	8	0.057971		WXS	Illumina HiSeq	Phase_I	191	38	0.198953	NM_002124	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			G|0.868;A|0.132	0.132	strong		0.592	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32557477	G	A	32557477	2	1	7	1	0	0	0	0	0	0	0	1	7208	962	34	2		2	HLA-DRB1	6	32557477	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	59517	32557477	138557590	70	1399										
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713608	32713608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttttccaagtttcctgtgacGctgggtcagcccaacaccct	8	14	1	1	rs199931222		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:32713608G>A	ENST00000374940.3	+	3	474	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCCTGTGACGCTGGGTCAGC	0.512																																					p.T124T		Atlas-SNP	.											HLA-DQA2,colon,carcinoma,+1,1	HLA-DQA2	27	1	0			c.G372A						scavenged	.						199	156	171					6																	32713608		1511	2709	4220	SO:0001819	synonymous_variant	3118	exon3			TGTGACGCTGGGT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.372G>A	6.37:g.32713608G>A		Somatic	176	9	0.0511364		WXS	Illumina HiSeq	Phase_I	236	68	0.288136	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			G|0.998;A|0.002	0.002	weak		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		A	32713608	G	A	32713608	2	1	7	1	0	0	0	0	0	0	0	1	7205	1074	38	1		1	HLA-DQA2	6	32713608	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	156131	32713608	138401459	71	1400										
C6orf154	221424	hgsc.bcm.edu	37	chr6	43477491	43477491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	acctcggcgccggacagcggCtcccccgaaatctggatgga	13	15	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:43477491C>G	ENST00000372441.1	-	1	933	c.33G>C	c.(31-33)gaG>gaC	p.E11D		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	11																	CGGACAGCGGCTCCCCCGAAA	0.751																																					p.E11D		Atlas-SNP	.											.	.	.	.	0			c.G33C						PASS	.						7	8	8					6																	43477491		1868	3757	5625	SO:0001583	missense	221424	exon1			CAGCGGCTCCCCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.33G>C	6.37:g.43477491C>G	ENSP00000361518:p.Glu11Asp	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	18	17	0.944444	NM_001012974		Missense_Mutation	SNP	ENST00000372441.1	37	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094211	0.56075	.	.	ENSG00000204052	ENST00000372441	T	0.52526	0.66	3.92	2.11	0.27256	.	0.220438	0.37304	U	0.002148	T	0.27900	0.0687	M	0.72118	2.19	0.80722	D	1	B	0.24768	0.111	B	0.28305	0.088	T	0.07520	-1.0768	10	0.30854	T	0.27	-2.5639	9.6261	0.39752	0.0:0.8277:0.0:0.1723	.	11	Q5JTD7	CF154_HUMAN	D	11	ENSP00000361518:E11D	ENSP00000361518:E11D	E	-	3	2	C6orf154	43585469	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.350000	0.34010	0.259000	0.21709	-0.379000	0.06801	GAG	.	.	none		0.751	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		G	43477491	C	G	43477491	3	3	7	1	0	0	0	0	1	0	0	0	2339	796	28	4	941	4	C6orf154	6	43477491	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	10763883	43477491	127637576	72	1401										
COL21A1	81578	hgsc.bcm.edu	37	chr6	55988901	55988901	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	taatccatcctttccatgtcTtcctggttctccctaaaaaa	3	13	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:55988901T>A	ENST00000244728.5	-	16	2114	c.1717A>T	c.(1717-1719)Aga>Tga	p.R573*	COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R573*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R570*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	573	Collagen-like 3.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCCATGTCTTCCTGGTTCT	0.264																																					p.R573X		Atlas-SNP	.											.	COL21A1	201	.	0			c.A1717T						PASS	.						32	27	29					6																	55988901		1666	3836	5502	SO:0001587	stop_gained	81578	exon16			CATGTCTTCCTGG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1717A>T	6.37:g.55988901T>A	ENSP00000244728:p.Arg573*	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	247	202	0.817814	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	T	41	8.904774	0.98998	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.36	4.36	0.52297	.	0.227351	0.30584	N	0.009318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	10.2225	0.43205	0.0:0.0:0.0:1.0	.	.	.	.	X	573;570;573;570	.	ENSP00000244728:R573X	R	-	1	2	COL21A1	56096860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.795000	0.38784	1.711000	0.51337	0.402000	0.26972	AGA	.	.	none		0.264	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	55988901	T	A	55988901	4	1	7	1	0	0	0	0	0	1	0	0	3680	1617	56	5	1216	5	COL21A1	6	55988901	Nonsense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	12511410	55988901	115126166	73	1402										
BAI3	577	hgsc.bcm.edu	37	chr6	69772924	69772924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gatagaactagctcatttggCtaatgtaagtaccatccact	7	9	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:69772924C>A	ENST00000370598.1	+	16	3253	c.2432C>A	c.(2431-2433)gCt>gAt	p.A811D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	811					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTCATTTGGCTAATGTAAGT	0.373																																					p.A811D		Atlas-SNP	.											.	BAI3	451	.	0			c.C2432A						PASS	.						134	111	119					6																	69772924		2203	4300	6503	SO:0001583	missense	577	exon16			ATTTGGCTAATGT	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2432C>A	6.37:g.69772924C>A	ENSP00000359630:p.Ala811Asp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	76	59	0.776316	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483456	0.44147	.	.	ENSG00000135298	ENST00000370598	T	0.20881	2.04	5.07	5.07	0.68467	.	0.267579	0.36740	N	0.002430	T	0.06142	0.0159	N	0.22421	0.69	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.18085	-1.0348	10	0.14252	T	0.57	.	13.7386	0.62833	0.154:0.846:0.0:0.0	.	811	O60242	BAI3_HUMAN	D	811	ENSP00000359630:A811D	ENSP00000359630:A811D	A	+	2	0	BAI3	69829645	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.695000	0.61767	2.484000	0.83849	0.484000	0.47621	GCT	.	.	none		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69772924	C	A	69772924	3	1	7	1	0	0	0	0	1	0	0	0	1300	797	28	4	2486	4	BAI3	6	69772924	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	13784023	69772924	101342143	74	1403										
WASF1	8936	hgsc.bcm.edu	37	chr6	110429812	110429812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atggaataggcaaagtcttgCgatcgaaaagctgctggtct	12	7	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr6:110429812C>T	ENST00000392589.1	-	6	1177	c.341G>A	c.(340-342)cGc>cAc	p.R114H	WASF1_ENST00000392588.1_Missense_Mutation_p.R114H|WASF1_ENST00000359451.2_Missense_Mutation_p.R114H|WASF1_ENST00000392587.2_Missense_Mutation_p.R114H|WASF1_ENST00000392586.1_Missense_Mutation_p.R114H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	114					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CAAAGTCTTGCGATCGAAAAG	0.368																																					p.R114H		Atlas-SNP	.											.	WASF1	35	.	0			c.G341A						PASS	.						100	93	95					6																	110429812		2203	4300	6503	SO:0001583	missense	8936	exon5			GTCTTGCGATCGA	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.341G>A	6.37:g.110429812C>T	ENSP00000376368:p.Arg114His	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	88	5	0.0568182	NM_001024935	E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494252	0.85069	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451;ENST00000444391;ENST00000265601;ENST00000368938	T;T;T;T;T;T;T;T	0.48201	1.21;1.21;1.21;1.21;1.21;1.21;0.82;0.82	6.06	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67953	2.075	0.58432	D	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.21143	-1.0254	10	0.34782	T	0.22	.	15.5809	0.76439	0.0:0.934:0.0:0.066	.	114	Q92558	WASF1_HUMAN	H	114	ENSP00000376365:R114H;ENSP00000376366:R114H;ENSP00000376368:R114H;ENSP00000376367:R114H;ENSP00000352425:R114H;ENSP00000407041:R114H;ENSP00000265601:R114H;ENSP00000357934:R114H	ENSP00000265601:R114H	R	-	2	0	WASF1	110536505	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.653000	0.61462	1.574000	0.49760	0.650000	0.86243	CGC	.	.	none		0.368	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		T	110429812	C	T	110429812	3	4	7	1	0	0	0	0	1	0	0	0	17249	768	27	1	1362	1	WASF1	6	110429812	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	40656888	110429812	60685255	75	1404										
HECW1	23072	hgsc.bcm.edu	37	chr7	43360271	43360271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aactttctggactataaaaaCcgtggagtcaatggttctca	8	8	3	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:43360271C>A	ENST00000395891.2	+	5	995	c.390C>A	c.(388-390)aaC>aaA	p.N130K	HECW1_ENST00000453890.1_Missense_Mutation_p.N130K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	130					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACTATAAAAACCGTGGAGTCA	0.453																																					p.N130K		Atlas-SNP	.											.	HECW1	540	.	0			c.C390A						PASS	.						121	117	119					7																	43360271		1880	4111	5991	SO:0001583	missense	23072	exon5			TAAAAACCGTGGA	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.390C>A	7.37:g.43360271C>A	ENSP00000379228:p.Asn130Lys	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	178	77	0.432584	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253889	0.80135	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37235	1.21;1.21	5.94	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.68593	2.085	0.54753	D	0.999984	D;P;D	0.76494	0.999;0.918;0.999	D;P;D	0.80764	0.994;0.542;0.994	T	0.57394	-0.7819	10	0.87932	D	0	.	9.4899	0.38953	0.0:0.7338:0.0:0.2662	.	130;162;130	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	K	130;130;129	ENSP00000379228:N130K;ENSP00000407774:N130K	ENSP00000265522:N129K	N	+	3	2	HECW1	43326796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.241000	0.51376	1.526000	0.49068	0.650000	0.86243	AAC	.	.	none		0.453	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43360271	C	A	43360271	3	1	7	1	0	0	0	0	1	0	0	0	7042	506	18	4	400	4	HECW1	7	43360271	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		43360271	115778392	76	1405										
COBL	23242	hgsc.bcm.edu	37	chr7	51203882	51203882	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gatgccttgtcttgcacaggTggccctgaacctggaggagg	15	10	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:51203882T>C	ENST00000265136.7	-	6	1095	c.930A>G	c.(928-930)ccA>ccG	p.P310P	COBL_ENST00000395540.2_Silent_p.P310P|COBL_ENST00000441453.1_Silent_p.P310P|COBL_ENST00000395542.2_Silent_p.P335P	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	310	Pro-rich.				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)					CTTGCACAGGTGGCCCTGAAC	0.567																																					p.P310P	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.A930G						PASS	.						81	62	69					7																	51203882		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon6			CACAGGTGGCCCT	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.930A>G	7.37:g.51203882T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	136	42	0.308824	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	9.074	0.997562	0.19043	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.55	0.604	0.17547	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	.	5.2781	0.15661	0.1214:0.2779:0.0:0.6007	.	.	.	.	A	229	.	.	T	-	1	0	COBL	51171376	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.119000	0.03276	-0.112000	0.11979	0.460000	0.39030	ACC	.	.	none		0.567	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		C	51203882	T	C	51203882	2	2	7	1	0	0	0	0	0	0	0	1	3653	1683	59	2		2	COBL	7	51203882	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	7843611	51203882	107934781	77	1406										
SEMA3C	10512	hgsc.bcm.edu	37	chr7	80418691	80418691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atccacagctatctttgtatActtgtagtcagtgccaatac	6	10	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:80418691A>T	ENST00000265361.3	-	12	1846	c.1285T>A	c.(1285-1287)Tat>Aat	p.Y429N	SEMA3C_ENST00000419255.2_Missense_Mutation_p.Y429N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Y447N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	429	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCTTTGTATACTTGTAGTCA	0.413																																					p.Y429N		Atlas-SNP	.											.	SEMA3C	106	.	0			c.T1285A						PASS	.						200	184	189					7																	80418691		2203	4300	6503	SO:0001583	missense	10512	exon12			TTGTATACTTGTA	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1285T>A	7.37:g.80418691A>T	ENSP00000265361:p.Tyr429Asn	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	240	100	0.416667	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710534	0.89018	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.11385	2.78;2.78;2.78	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.112982	0.64402	D	0.000006	T	0.30448	0.0765	M	0.71206	2.165	0.80722	D	1	P;P	0.51240	0.93;0.943	P;P	0.59171	0.771;0.853	T	0.01096	-1.1453	10	0.87932	D	0	.	16.3908	0.83537	1.0:0.0:0.0:0.0	.	447;429	F5H1Z7;Q99985	.;SEM3C_HUMAN	N	429;429;447	ENSP00000265361:Y429N;ENSP00000411193:Y429N;ENSP00000445649:Y447N	ENSP00000265361:Y429N	Y	-	1	0	SEMA3C	80256627	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.327000	0.79147	2.269000	0.75478	0.455000	0.32223	TAT	.	.	none		0.413	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80418691	A	T	80418691	3	4	7	1	0	0	0	0	1	0	0	0	14026	391	14	5	998	5	SEMA3C	7	80418691	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	29214809	80418691	78719972	78	1407										
MUC17	140453	hgsc.bcm.edu	37	chr7	100684573	100684573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atgcctgtcagcaccacaacGgtggccagttctgaaacgag	11	12	2	1	rs144023476	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317				p.T3292T		Atlas-SNP	.											MUC17,NS,haematopoietic_neoplasm,0,1	MUC17	804	1	0			c.G9876A						scavenged	.	G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACAACGGTGGCC	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.9876G>A	7.37:g.100684573G>A		Somatic	60	1	0.0166667		WXS	Illumina HiSeq	Phase_I	50	3	0.06	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.984;A|0.016	0.016	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	7	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	20265882	100684573	58454090	79	1408										
ORC5L	5001	hgsc.bcm.edu	37	chr7	103835607	103835607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttacctatgctgtaatcaggGaaatataagacaaacggctc	8	8	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:103835607G>T	ENST00000297431.4	-	5	679	c.537C>A	c.(535-537)ttC>ttA	p.F179L	ORC5_ENST00000545943.1_Missense_Mutation_p.F47L|ORC5_ENST00000447452.2_Missense_Mutation_p.F179L|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	179					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGTAATCAGGGAAATATAAGA	0.343																																					p.F179L		Atlas-SNP	.											.	ORC5	48	.	0			c.C537A						PASS	.						96	93	94					7																	103835607		2203	4300	6503	SO:0001583	missense	5001	exon5			ATCAGGGAAATAT		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.537C>A	7.37:g.103835607G>T	ENSP00000297431:p.Phe179Leu	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_002553	A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621348	0.28889	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.59083	0.29;0.64;0.29	5.72	-2.03	0.07365	.	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	L	0.37466	1.105	0.54753	D	0.999989	D;P;B	0.69078	0.997;0.886;0.125	D;P;B	0.70716	0.97;0.517;0.056	T	0.56902	-0.7902	10	0.40728	T	0.16	.	13.0489	0.58944	0.768:0.0:0.232:0.0	.	179;179;179	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	L	179;47;179	ENSP00000297431:F179L;ENSP00000438018:F47L;ENSP00000395747:F179L	ENSP00000297431:F179L	F	-	3	2	ORC5	103622843	0.999000	0.42202	0.978000	0.43139	0.964000	0.63967	0.560000	0.23500	-0.489000	0.06716	-0.137000	0.14449	TTC	.	.	none		0.343	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		T	103835607	G	T	103835607	3	4	7	1	0	0	0	0	1	0	0	0	11265	1165	41	4	908	4	ORC5L	7	103835607	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	3151034	103835607	55303056	80	1409										
FLNC	2318	hgsc.bcm.edu	37	chr7	128492881	128492881	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cctaacacccactttccacaGggatctccttcacccccaag	4	19	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr7:128492881G>A	ENST00000325888.8	+	37	6265		c.e37-1		FLNC_ENST00000346177.6_Splice_Site|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma						cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTTTCCACAGGGATCTCCTT	0.647																																					.		Atlas-SNP	.											.	FLNC	339	.	0			c.6005-1G>A						PASS	.						58	65	63					7																	128492881		2033	4187	6220	SO:0001630	splice_region_variant	2318	exon37			TCCACAGGGATCT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6005-1G>A	7.37:g.128492881G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	77	29	0.376623	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Splice_Site	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552313	0.86127	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNC	128280117	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.806000	0.99153	2.722000	0.93159	0.655000	0.94253	.	.	.	none		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Intron	A	128492881	G	A	128492881	5	1	7	1	0	0	0	0	0	0	1	0	5935	1014	35	2	6150	2	FLNC	7	128492881	Splice_Site	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	24657274	128492881	30645782	81	1410										
ZNF703	80139	hgsc.bcm.edu	37	chr8	37555934	37555934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggggcctcgggcctgggcagCgccgccgccgccgccgccgc	18	20	0	0	rs568050040	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr8:37555934C>T	ENST00000331569.4	+	2	1744	c.1515C>T	c.(1513-1515)agC>agT	p.S505S		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	505					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGGGCAGcgccgccgccg	0.771																																					p.S505S		Atlas-SNP	.											.	ZNF703	16	.	0			c.C1515T						PASS	.						1	2	2					8																	37555934		1094	2312	3406	SO:0001819	synonymous_variant	80139	exon2			GGGCAGCGCCGCC	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1515C>T	8.37:g.37555934C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_025069	Q5XG76	Silent	SNP	ENST00000331569.4	37	CCDS6094.1																																																																																			.	.	none		0.771	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		T	37555934	C	T	37555934	2	4	7	1	0	0	0	0	0	0	0	1	18103	767	27	1		1	ZNF703	8	37555934	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		37555934	108808088	82	1411										
FAM135B	51059	hgsc.bcm.edu	37	chr8	139164971	139164971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cctgtctaatccatacttatCtctagagctcctactctcat	3	14	3	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr8:139164971C>T	ENST00000395297.1	-	13	1917	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	583										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCATACTTATCTCTAGAGCTC	0.458										HNSCC(54;0.14)																											p.D583N		Atlas-SNP	.											LOC51059,rectum,carcinoma,0,2	FAM135B	423	2	0			c.G1747A						PASS	.						153	145	148					8																	139164971		1900	4119	6019	SO:0001583	missense	51059	exon13			ACTTATCTCTAGA	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1747G>A	8.37:g.139164971C>T	ENSP00000378710:p.Asp583Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	129	77	0.596899	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125028	0.37533	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	5.45	3.61	0.41365	.	1.013200	0.07872	N	0.968042	T	0.13798	0.0334	L	0.44542	1.39	0.09310	N	1	P;B;B	0.37207	0.587;0.091;0.03	B;B;B	0.32465	0.146;0.07;0.005	T	0.19095	-1.0316	10	0.25106	T	0.35	-1.7504	7.0725	0.25187	0.0:0.6997:0.1672:0.1331	.	583;583;583	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	583	ENSP00000378710:D583N	ENSP00000276737:D583N	D	-	1	0	FAM135B	139234153	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.393000	0.20817	1.423000	0.47198	-0.176000	0.13171	GAT	.	.	none		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139164971	C	T	139164971	3	4	7	1	0	0	0	0	1	0	0	0	5449	913	32	2	2505	2	FAM135B	8	139164971	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	101609037	139164971	7199051	83	1412										
DENND3	22898	hgsc.bcm.edu	37	chr8	142202753	142202754	+	Frame_Shift_Ins	INS	-	-	AA													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcaactgcatgatccgggtgINSaagaagcaggtagggtggag							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr8:142202753_142202754insAA	ENST00000262585.2	+	22	3665_3666	c.3387_3388insAA	c.(3388-3390)aagfs	p.K1130fs	DENND3_ENST00000424248.1_Frame_Shift_Ins_p.K1078fs|DENND3_ENST00000523308.1_Frame_Shift_Ins_p.K180fs|DENND3_ENST00000519811.1_Frame_Shift_Ins_p.K1210fs	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1130					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATCCGGGTGAAGAAGCAGGT	0.673																																					p.V1129fs		Pindel,Atlas-Indel	.											.	DENND3	127	.	0			c.3387_3388insAA						PASS	.																																			SO:0001589	frameshift_variant	22898	exon22			.	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3388_3389dupAA	8.37:g.142202754_142202755dupAA	ENSP00000262585:p.Lys1130fs	Somatic	64	.	.		WXS	Illumina HiSeq	Phase_I	74	17	0.23	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Frame_Shift_Ins	INS	ENST00000262585.2	37	CCDS34947.1																																																																																			.	.	none		0.673	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		AA	142202754	-	AA	142202753	7	5	7	1	0	1	1	0	0	0	0	0	4432	1277	45	0	3469	0	DENND3	8	142202753	Frame_Shift_Ins	INS	-	TCGA-FA-A7Q1-01A-11D-A382-10	3037782	142202753	4161269	84	1413										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117998	117998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctaggaactgctggctcgccGcctcctcctcgtcttcatct	8	17	3	0	rs66612967	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:117998G>T	ENST00000382500.2	-	1	419	c.122C>A	c.(121-123)gCg>gAg	p.A41E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41E(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTCGCCGCCTCCTCCTC	0.682													T|||	111	0.0221645	0.0749	0.013	5008	,	,		13954	0.001		0.002	False		,,,				2504	0.0				p.A41E		Atlas-SNP	.											FOXD4_ENST00000382500,NS,carcinoma,0,3	FOXD4	75	3	1	Substitution - Missense(1)	skin(1)	c.C122A						scavenged	.						38	53	48					9																	117998		2203	4298	6501	SO:0001583	missense	2298	exon1			CTCGCCGCCTCCT	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.122C>A	9.37:g.117998G>T	ENSP00000371940:p.Ala41Glu	Somatic	249	18	0.0722892		WXS	Illumina HiSeq	Phase_I	237	28	0.118143	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	50	0.022893772893772892	43	0.08739837398373984	4	0.011049723756906077	3	0.005244755244755245	0	0.0	.	0.012	-1.673624	0.00758	.	.	ENSG00000170122	ENST00000382500	D	0.94457	-3.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.13030	0.0316	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57458	-0.7808	9	0.02654	T	1	.	4.5559	0.12136	0.0:0.0:0.3427:0.6573	.	41	Q12950	FOXD4_HUMAN	E	41	ENSP00000371940:A41E	ENSP00000371940:A41E	A	-	2	0	FOXD4	107998	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.379000	0.07437	0.095000	0.17434	-1.316000	0.01300	GCG	G|0.977;T|0.023	0.023	strong		0.682	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117998	G	T	117998	3	4	7	1	0	0	0	0	1	0	0	0	5999	1087	38	4	1201	4	FOXD4	9	117998	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		117998	141095433	85	1414										
FOXD4	2298	hgsc.bcm.edu	37	chr9	118097	118097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gctgcggtgtggagcgaaggCgctcagctcttggcaagttc	16	10	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:118097C>T	ENST00000382500.2	-	1	320	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	8					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCGAAGGCGCTCAGCTCT	0.657																																					p.R8H		Atlas-SNP	.											FOXD4,colon,carcinoma,-1,1	FOXD4	75	1	0			c.G23A						PASS	.						67	77	74					9																	118097		2199	4295	6494	SO:0001583	missense	2298	exon1			CGAAGGCGCTCAG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.23G>A	9.37:g.118097C>T	ENSP00000371940:p.Arg8His	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	247	32	0.129555	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.482692	0.26598	.	.	ENSG00000170122	ENST00000382500	D	0.95518	-3.73	2.31	1.34	0.21922	.	0.918410	0.08832	N	0.887090	D	0.87873	0.6287	N	0.14661	0.345	0.21762	N	0.999551	B	0.19935	0.04	B	0.08055	0.003	T	0.76000	-0.3119	10	0.19147	T	0.46	.	6.1292	0.20195	0.0:0.8198:0.0:0.1802	.	8	Q12950	FOXD4_HUMAN	H	8	ENSP00000371940:R8H	ENSP00000371940:R8H	R	-	2	0	FOXD4	108097	0.000000	0.05858	0.158000	0.22627	0.111000	0.19643	-0.054000	0.11826	0.271000	0.22005	0.291000	0.19559	CGC	.	.	none		0.657	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	118097	C	T	118097	3	4	7	1	0	0	0	0	1	0	0	0	5999	768	27	1	1300	1	FOXD4	9	118097	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	99	118097	141095334	86	1415										
C9orf47	286223	hgsc.bcm.edu	37	chr9	91606581	91606581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cgcgccacccgctaggatgcCggtggccccagcgccctcag	13	19	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:91606581C>T	ENST00000334490.5	+	2	511	c.443C>T	c.(442-444)cCg>cTg	p.P148L	C9orf47_ENST00000375850.3_Missense_Mutation_p.P129L|S1PR3_ENST00000358157.2_5'UTR|C9orf47_ENST00000375851.2_Missense_Mutation_p.P129L			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	148						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GCTAGGATGCCGGTGGCCCCA	0.766																																					p.P148L		Atlas-SNP	.											.	C9orf47	9	.	0			c.C443T						PASS	.						2	2	2					9																	91606581		1230	2747	3977	SO:0001583	missense	286223	exon2			GGATGCCGGTGGC	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.443C>T	9.37:g.91606581C>T	ENSP00000335616:p.Pro148Leu	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	39	12	0.307692	NM_001001938	B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004462	0.35320	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.64	-0.648	0.11464	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.26189	N	0.979614	D;D	0.56287	0.975;0.975	B;B	0.40477	0.33;0.33	T	0.16482	-1.0401	8	0.87932	D	0	.	2.1044	0.03688	0.2681:0.3827:0.0:0.3492	.	148;129	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	L	129;129;148	.	ENSP00000335616:P148L	P	+	2	0	C9orf47	90796401	0.000000	0.05858	0.057000	0.19452	0.022000	0.10575	-1.050000	0.03510	-0.143000	0.11334	0.555000	0.69702	CCG	.	.	none		0.766	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		T	91606581	C	T	91606581	3	4	7	1	0	0	0	0	1	0	0	0	2485	652	23	1	449	1	C9orf47	9	91606581	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	91488484	91606581	49606850	87	1416										
IARS	3376	hgsc.bcm.edu	37	chr9	95021262	95021262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttttctgctctcaccacaggGgagttaatcagatataatct	7	9	4	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:95021262G>A	ENST00000375643.3	-	19	2156	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.S520S|IARS_ENST00000443024.2_Silent_p.S630S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	630					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCACCACAGGGGAGTTAATCA	0.423																																					p.S630S		Atlas-SNP	.											IARS,NS,carcinoma,-2,1	IARS	74	1	0			c.C1890T						scavenged	.						63	60	61					9																	95021262		2203	4300	6503	SO:0001819	synonymous_variant	3376	exon19			CACAGGGGAGTTA	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1890C>T	9.37:g.95021262G>A		Somatic	61	1	0.0163934		WXS	Illumina HiSeq	Phase_I	44	10	0.227273	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	CCDS6694.1																																																																																			.	.	none		0.423	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		A	95021262	G	A	95021262	2	1	7	1	0	0	0	0	0	0	0	1	7473	1219	43	2		2	IARS	9	95021262	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	3414681	95021262	46192169	88	1417										
HIATL1	84641	hgsc.bcm.edu	37	chr9	97203305	97203305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttctgtgtctggagtcttctCggtcacgttttctgttatat	9	8	6	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:97203305C>T	ENST00000375344.3	+	5	703	c.434C>T	c.(433-435)tCg>tTg	p.S145L	HIATL1_ENST00000428393.2_Missense_Mutation_p.S80L	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	145					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GGAGTCTTCTCGGTCACGTTT	0.383																																					p.S145L	Pancreas(77;1260 1915 1973 10423)	Atlas-SNP	.											.	HIATL1	31	.	0			c.C434T						PASS	.						132	125	127					9																	97203305		2203	4300	6503	SO:0001583	missense	84641	exon5			TCTTCTCGGTCAC	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.434C>T	9.37:g.97203305C>T	ENSP00000364493:p.Ser145Leu	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	354	130	0.367232	NM_032558	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	32	5.118255	0.94385	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.60920	0.15;0.15	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.41294	D	0.000920	T	0.67822	0.2934	M	0.76002	2.32	0.80722	D	1	P;D	0.55800	0.948;0.973	P;P	0.52481	0.7;0.7	T	0.73914	-0.3832	10	0.87932	D	0	-7.144	14.7696	0.69665	0.0:1.0:0.0:0.0	.	80;145	B4DUE6;Q5SR56	.;HIAL1_HUMAN	L	145;80	ENSP00000364493:S145L;ENSP00000405909:S80L	ENSP00000364493:S145L	S	+	2	0	HIATL1	96243126	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	7.357000	0.79456	2.610000	0.88304	0.557000	0.71058	TCG	.	.	none		0.383	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		T	97203305	C	T	97203305	3	4	7	1	0	0	0	0	1	0	0	0	7098	893	31	1	452	1	HIATL1	9	97203305	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	2182043	97203305	44010126	89	1418										
ADAMTSL2	9719	hgsc.bcm.edu	37	chr9	136404949	136404949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cagtgcgtctccttcaactcCcacgtgtacaacgggcggac	10	15	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:136404949C>T	ENST00000354484.4	+	5	923	c.366C>T	c.(364-366)tcC>tcT	p.S122S	ADAMTSL2_ENST00000393060.1_Silent_p.S122S|ADAMTSL2_ENST00000393061.3_Silent_p.S231S	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	122					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCTTCAACTCCCACGTGTACA	0.672																																					p.S122S		Atlas-SNP	.											.	ADAMTSL2	40	.	0			c.C366T						PASS	.						45	37	40					9																	136404949		1939	3747	5686	SO:0001819	synonymous_variant	9719	exon5			CAACTCCCACGTG	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.366C>T	9.37:g.136404949C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	34	11	0.323529	NM_014694	B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	CCDS6976.1																																																																																			.	.	none		0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		T	136404949	C	T	136404949	2	4	7	1	0	0	0	0	0	0	0	1	275	610	22	2		2	ADAMTSL2	9	136404949	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	39201644	136404949	4808482	90	1419										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137726979	137726979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	acgacaaggccctccgcttcCtgggctccaacgacgaggag	12	15	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:137726979C>T	ENST00000371817.3	+	65	5713	c.5299C>T	c.(5299-5301)Ctg>Ttg	p.L1767L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1767	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCGCTTCCTGGGCTCCAA	0.657																																					p.L1767L		Atlas-SNP	.											.	COL5A1	323	.	0			c.C5299T						PASS	.						90	72	78					9																	137726979		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon65			CGCTTCCTGGGCT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5299C>T	9.37:g.137726979C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406309	0.25378	.	.	ENSG00000130635	ENST00000371820	.	.	.	5.03	2.78	0.32641	.	.	.	.	.	T	0.61776	0.2374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59789	-0.7388	4	.	.	.	.	11.6076	0.51041	0.0:0.8236:0.0:0.1764	.	.	.	.	L	186	.	.	P	+	2	0	COL5A1	136866800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.500000	0.45381	1.090000	0.41315	0.561000	0.74099	CCT	.	.	none		0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137726979	C	T	137726979	2	4	7	1	0	0	0	0	0	0	0	1	3696	680	24	2		2	COL5A1	9	137726979	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	1322030	137726979	3486452	91	1420										
KCNT1	57582	hgsc.bcm.edu	37	chr9	138664597	138664597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cctgcagggcacagagcaccGgcctacgcagagcggcggtg	16	14	0	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:138664597G>A	ENST00000263604.3	+	19	1988	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q	KCNT1_ENST00000486577.2_Missense_Mutation_p.R641Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.R661Q|KCNT1_ENST00000488444.2_Missense_Mutation_p.R663Q|KCNT1_ENST00000491806.2_Missense_Mutation_p.R649Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.R637Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.R682Q|KCNT1_ENST00000371757.2_Missense_Mutation_p.R682Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	663					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACAGAGCACCGGCCTACGCAG	0.716																																					p.R682Q		Atlas-SNP	.											.	KCNT1	139	.	0			c.G2045A						PASS	.						4	6	5					9																	138664597		2007	4003	6010	SO:0001583	missense	57582	exon19			AGCACCGGCCTAC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1988G>A	9.37:g.138664597G>A	ENSP00000263604:p.Arg663Gln	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	59	33	0.559322	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	10.46	1.355993	0.24598	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.23552	1.92;1.91;1.91;1.9	4.02	2.14	0.27477	.	0.225763	0.38492	N	0.001664	T	0.23886	0.0578	M	0.77820	2.39	0.37757	D	0.926174	P;P;P;B	0.39920	0.47;0.569;0.695;0.342	B;B;B;B	0.28916	0.044;0.044;0.096;0.044	T	0.13495	-1.0507	10	0.39692	T	0.17	-43.5149	10.0494	0.42205	0.1661:0.0:0.8339:0.0	.	649;682;637;663	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Q	637;682;682;641;649;663;661;663	ENSP00000417851:R637Q;ENSP00000298480:R682Q;ENSP00000360822:R682Q;ENSP00000263604:R663Q	ENSP00000263604:R663Q	R	+	2	0	KCNT1	137804418	1.000000	0.71417	0.742000	0.31022	0.011000	0.07611	2.767000	0.47637	0.197000	0.20387	0.579000	0.79373	CGG	.	.	none		0.716	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138664597	G	A	138664597	3	1	7	1	0	0	0	0	1	0	0	0	8091	1116	39	1	2119	1	KCNT1	9	138664597	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	937618	138664597	2548834	92	1421										
NACC2	138151	hgsc.bcm.edu	37	chr9	138903792	138903792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gccagcgcttgcgaacgcggCgggcgttggtgcacatgtcc	16	13	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr9:138903792C>T	ENST00000371753.1	-	5	1392	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	NACC2_ENST00000277554.2_Missense_Mutation_p.R445H			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	445	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GCGAACGCGGCGGGCGTTGGT	0.662																																					p.R445H		Atlas-SNP	.											.	NACC2	16	.	0			c.G1334A						PASS	.						33	28	30					9																	138903792		2198	4296	6494	SO:0001583	missense	138151	exon6			ACGCGGCGGGCGT	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1334G>A	9.37:g.138903792C>T	ENSP00000360818:p.Arg445His	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_144653		Missense_Mutation	SNP	ENST00000371753.1	37	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023864	0.93462	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.52295	0.67;0.67	5.23	4.33	0.51752	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	N	0.24115	0.695	0.47123	D	0.999329	D	0.89917	1.0	D	0.85130	0.997	T	0.59069	-0.7523	10	0.87932	D	0	.	13.0677	0.59043	0.0:0.9215:0.0:0.0785	.	445	Q96BF6	NACC2_HUMAN	H	445	ENSP00000360818:R445H;ENSP00000277554:R445H	ENSP00000277554:R445H	R	-	2	0	NACC2	138043613	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.626000	0.83164	1.193000	0.43086	0.313000	0.20887	CGC	.	.	none		0.662	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		T	138903792	C	T	138903792	3	4	7	1	0	0	0	0	1	0	0	0	10136	768	27	1	433	1	NACC2	9	138903792	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	239195	138903792	2309639	93	1422										
DIP2C	22982	hgsc.bcm.edu	37	chr10	332259	332259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtccttttgtttctgggttgGcaattataatccgaacccct	8	10	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:332259G>A	ENST00000280886.6	-	34	4160	c.4073C>T	c.(4072-4074)gCc>gTc	p.A1358V		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1358						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCTGGGTTGGCAATTATAAT	0.478																																					p.A1358V		Atlas-SNP	.											.	DIP2C	195	.	0			c.C4073T						PASS	.						175	184	181					10																	332259		2203	4300	6503	SO:0001583	missense	22982	exon34			GGGTTGGCAATTA	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4073C>T	10.37:g.332259G>A	ENSP00000280886:p.Ala1358Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836606	0.71373	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.33865	1.39	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	N	0.04320	-0.23	0.80722	D	1	B	0.23854	0.092	B	0.39971	0.315	T	0.08973	-1.0696	10	0.02654	T	1	-36.6422	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1358	Q9Y2E4	DIP2C_HUMAN	V	1358;283	ENSP00000280886:A1358V	ENSP00000280886:A1358V	A	-	2	0	DIP2C	322259	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.974000	0.63771	2.804000	0.96469	0.655000	0.94253	GCC	.	.	none		0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		A	332259	G	A	332259	3	1	7	1	0	0	0	0	1	0	0	0	4529	1203	42	2	613	2	DIP2C	10	332259	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		332259	135202488	94	1423										
SEC61A2	55176	hgsc.bcm.edu	37	chr10	12200105	12200105	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atttactaggacagtgggccGtgagtattatgtttatttac	10	5	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:12200105G>A	ENST00000298428.9	+	9	1064		c.e9+1		SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379033.3_Splice_Site|SEC61A2_ENST00000379020.4_Intron	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)						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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368																																					.		Atlas-SNP	.											SEC61A2,NS,carcinoma,0,1	SEC61A2	48	1	1	Unknown(1)	prostate(1)	c.975+1G>A						scavenged	.						62	59	60					10																	12200105		2203	4300	6503	SO:0001630	splice_region_variant	55176	exon9			TGGGCCGTGAGTA	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.975+1G>A	10.37:g.12200105G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	211	5	0.0236967	NM_018144	A8K8D0|B4DX72|F8W773	Splice_Site	SNP	ENST00000298428.9	37	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357693	0.82243	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000426560	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5031	0.90889	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC61A2	12240111	1.000000	0.71417	0.982000	0.44146	0.952000	0.60782	9.773000	0.98989	2.685000	0.91497	0.655000	0.94253	.	.	.	none		0.368	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144	Intron	A	12200105	G	A	12200105	5	1	7	1	0	0	0	0	0	0	1	0	14001	1159	40	1	1010	1	SEC61A2	10	12200105	Splice_Site	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	11867846	12200105	123334642	95	1424										
GPR158	57512	hgsc.bcm.edu	37	chr10	25887600	25887600	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgggaggtttatgacctgacCcctggtcctgtgccttcaga	12	11	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:25887600C>A	ENST00000376351.3	+	11	3404	c.3045C>A	c.(3043-3045)acC>acA	p.T1015T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1015					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATGACCTGACCCCTGGTCCTG	0.478																																					p.T1015T		Atlas-SNP	.											.	GPR158	255	.	0			c.C3045A						PASS	.						56	57	57					10																	25887600		2203	4300	6503	SO:0001819	synonymous_variant	57512	exon11			CCTGACCCCTGGT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3045C>A	10.37:g.25887600C>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	27	0.350649	NM_020752	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																			.	.	none		0.478	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25887600	C	A	25887600	2	1	7	1	0	0	0	0	0	0	0	1	6663	610	22	4		4	GPR158	10	25887600	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	13687495	25887600	109647147	96	1425										
FAS	355	hgsc.bcm.edu	37	chr10	90773125	90773125	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agtggcaataaatttatctgGtaaggcttttatcattttat	7	4	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:90773125G>C	ENST00000355740.2	+	8	896		c.e8+1		FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000355279.2_Intron|FAS_ENST00000313771.5_Splice_Site|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000352159.4_Splice_Site	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AATTTATCTGGTAAGGCTTTT	0.284																																					.		Atlas-SNP	.											.	FAS	47	.	0			c.613+1G>C	GRCh37	CS994526	FAS	S		PASS	.						70	78	75					10																	90773125		2201	4279	6480	SO:0001630	splice_region_variant	355	exon7			TATCTGGTAAGGC	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.676+1G>C	10.37:g.90773125G>C		Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	100	66	0.66	NM_152871	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000355740.2	37	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325140	0.24080	.	.	ENSG00000026103	ENST00000355740;ENST00000352159;ENST00000357339;ENST00000371875	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9442	0.47292	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAS	90763105	1.000000	0.71417	0.996000	0.52242	0.376000	0.30014	3.482000	0.53186	2.283000	0.76528	0.563000	0.77884	.	.	.	none		0.284	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3		Intron	C	90773125	G	C	90773125	5	2	7	1	0	0	0	0	0	0	1	0	5681	1275	44	4	707	4	FAS	10	90773125	Splice_Site	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	64885525	90773125	44761622	97	1426										
PLCE1	51196	hgsc.bcm.edu	37	chr10	96084266	96084266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcaggagtgtgtgtttcaagCccaaagcaagtggaaaggtg	14	6	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:96084266C>T	ENST00000371380.3	+	30	6897	c.6662C>T	c.(6661-6663)gCc>gTc	p.A2221V	PLCE1_ENST00000371385.3_Missense_Mutation_p.A1913V|PLCE1_ENST00000260766.3_Missense_Mutation_p.A2221V|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.A1913V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2221	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTTTCAAGCCCAAAGCAAG	0.438																																					p.A2221V		Atlas-SNP	.											.	PLCE1	543	.	0			c.C6662T						PASS	.						158	156	157					10																	96084266		1886	4112	5998	SO:0001583	missense	51196	exon31			TTCAAGCCCAAAG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6662C>T	10.37:g.96084266C>T	ENSP00000360431:p.Ala2221Val	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	30	0.361446	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585086	0.86748	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.59	4.69	0.59074	Ras-association (3);	0.062832	0.64402	N	0.000006	T	0.42108	0.1188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.40232	-0.9574	10	0.72032	D	0.01	.	13.8887	0.63724	0.0:0.9261:0.0:0.0739	.	2205;1913;2221	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	2221;2221;1913;1913	ENSP00000260766:A2221V;ENSP00000360431:A2221V;ENSP00000360438:A1913V;ENSP00000360426:A1913V	ENSP00000260766:A2221V	A	+	2	0	PLCE1	96074256	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	3.805000	0.55575	1.362000	0.46000	0.655000	0.94253	GCC	.	.	none		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	96084266	C	T	96084266	3	4	7	1	0	0	0	0	1	0	0	0	12034	739	26	2	7066	2	PLCE1	10	96084266	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	5311141	96084266	39450481	98	1427										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	347	4	0.0115274		WXS	Illumina HiSeq	Phase_I	288	11	0.0381944	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	7	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	39354667	135438933	95814	99	1428										
CHID1	66005	hgsc.bcm.edu	37	chr11	902268	902268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctcttcagctgcagccagacGggtgagatctgtgtgaactt	12	10	3	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:902268G>A	ENST00000449825.1	-	4	680	c.324C>T	c.(322-324)ccC>ccT	p.P108P	CHID1_ENST00000436108.2_Silent_p.P108P|CHID1_ENST00000336845.5_Silent_p.P133P|CHID1_ENST00000528581.1_Silent_p.P133P|CHID1_ENST00000429789.2_Silent_p.P108P|CHID1_ENST00000323541.7_Silent_p.P138P|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.P108P|CHID1_ENST00000454838.2_Silent_p.P133P	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	108					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		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;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GCAGCCAGACGGGTGAGATCT	0.552																																					p.P133P	Pancreas(117;992 2327 5172 41921)	Atlas-SNP	.											.	CHID1	29	.	0			c.C399T						PASS	.						187	143	158					11																	902268		2203	4299	6502	SO:0001819	synonymous_variant	66005	exon5			CCAGACGGGTGAG	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.324C>T	11.37:g.902268G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	65	26	0.4	NM_001142676	B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	CCDS7722.1																																																																																			.	.	none		0.552	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		A	902268	G	A	902268	2	1	7	1	0	0	0	0	0	0	0	1	3345	1103	39	1		1	CHID1	11	902268	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		902268	134104248	100	1429										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016749	1016749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gactgtgtgagtacttggagTcaccaaggaggtggagaaag	16	5	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:1016749T>C	ENST00000421673.2	-	31	6102	c.6052A>G	c.(6052-6054)Act>Gct	p.T2018A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2018	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTTGGAGTCACCAAGGAG	0.542																																					p.T2018A		Atlas-SNP	.											.	MUC6	408	.	0			c.A6052G						PASS	.						795	734	755					11																	1016749		2203	4295	6498	SO:0001583	missense	4588	exon31			TTGGAGTCACCAA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6052A>G	11.37:g.1016749T>C	ENSP00000406861:p.Thr2018Ala	Somatic	454	0	0		WXS	Illumina HiSeq	Phase_I	425	20	0.0470588	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571617	0.28003	.	.	ENSG00000184956	ENST00000421673	T	0.26660	1.72	2.8	1.55	0.23275	.	.	.	.	.	T	0.25382	0.0617	L	0.44542	1.39	0.09310	N	1	D	0.52996	0.957	P	0.51355	0.667	T	0.13282	-1.0515	9	0.14252	T	0.57	.	6.5144	0.22240	0.2164:0.0:0.0:0.7835	.	2018	Q6W4X9	MUC6_HUMAN	A	2018	ENSP00000406861:T2018A	ENSP00000406861:T2018A	T	-	1	0	MUC6	1006749	0.175000	0.23083	0.002000	0.10522	0.030000	0.12068	1.083000	0.30815	0.243000	0.21327	0.260000	0.18958	ACT	.	.	none		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016749	T	C	1016749	3	2	7	1	0	0	0	0	1	0	0	0	9980	1667	58	2	1279	2	MUC6	11	1016749	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	114481	1016749	133989767	101	1430										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093452	1093452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accacggtgaccccaaccccGacacccaccggcacacagac	7	21	0	2	rs34136803		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:1093452G>A	ENST00000441003.2	+	30	5298	c.5271G>A	c.(5269-5271)ccG>ccA	p.P1757P	MUC2_ENST00000359061.5_Silent_p.P1724P|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P45P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.P1724P(1)|p.P1757P(1)		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)	ccccaaccccgacacccaccg	0.617																																					p.P1757P		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	2	Substitution - coding silent(2)	prostate(2)	c.G5271A						scavenged	.						107	134	125					11																	1093452		2040	4045	6085	SO:0001819	synonymous_variant	4583	exon30			AACCCCGACACCC	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.5271G>A	11.37:g.1093452G>A		Somatic	18	5	0.277778		WXS	Illumina HiSeq	Phase_I	12	4	0.333333	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				A|1.000;|0.000	1.000	weak		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093452	G	A	1093452	2	1	7	1	0	0	0	0	0	0	0	1	9975	1045	37	1		1	MUC2	11	1093452	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	76703	1093452	133913064	102	1431										
NAV2	89797	hgsc.bcm.edu	37	chr11	20066704	20066704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aagcagagtggttccgccgcCggcctggccatgatcacagc	13	14	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:20066704C>T	ENST00000396087.3	+	15	3558	c.3459C>T	c.(3457-3459)gcC>gcT	p.A1153A	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.A1084A|NAV2_ENST00000360655.4_Silent_p.A1066A|NAV2_ENST00000311043.8_Silent_p.A216A|NAV2_ENST00000533917.1_Silent_p.A216A|NAV2_ENST00000396085.1_Silent_p.A1130A|NAV2_ENST00000527559.2_Silent_p.A1082A|NAV2_ENST00000349880.4_Silent_p.A1130A	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1153					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						GTTCCGCCGCCGGCCTGGCCA	0.587																																					p.A1153A		Atlas-SNP	.											NAV2,NS,carcinoma,+2,1	NAV2	255	1	0			c.C3459T						PASS	.						71	69	70					11																	20066704		2203	4300	6503	SO:0001819	synonymous_variant	89797	exon15			CGCCGCCGGCCTG	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.3459C>T	11.37:g.20066704C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	42	15	0.357143	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			.	.	none		0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20066704	C	T	20066704	2	4	7	1	0	0	0	0	0	0	0	1	10184	639	23	1		1	NAV2	11	20066704	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	18973252	20066704	114939812	103	1432										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	14	5	1	4	rs200778682	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																					p.I111T		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,4	TRIM48	149	4	0			c.T332C						scavenged	.						98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097	exon2			GTGGCATTCACAG	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr	Somatic	531	10	0.0188324		WXS	Illumina HiSeq	Phase_I	440	11	0.025	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT	T|0.996;C|0.004	0.004	strong		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	7	1	0	0	0	0	1	0	0	0	16520	1493	52	2	338	2	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	34965959	55032663	79973853	104	1433										
OR5M11	219487	hgsc.bcm.edu	37	chr11	56310329	56310329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cagatgcaaactctcctggaCgttttcacactgtagcgcag	9	12	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:56310329C>T	ENST00000528616.2	-	1	428	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTCTCCTGGACGTTTTCACAC	0.498																																					p.T135T		Atlas-SNP	.											OR5M11,NS,carcinoma,0,2	OR5M11	60	2	0			c.G405A						PASS	.						51	54	53					11																	56310329		2179	4283	6462	SO:0001819	synonymous_variant	219487	exon1			CCTGGACGTTTTC	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.405G>A	11.37:g.56310329C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	48	26	0.541667	NM_001005245	B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	CCDS53629.1																																																																																			.	.	none		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		T	56310329	C	T	56310329	2	4	7	1	0	0	0	0	0	0	0	1	11174	523	19	1		1	OR5M11	11	56310329	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	1277666	56310329	78696187	105	1434										
NXF1	10482	hgsc.bcm.edu	37	chr11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctaccttgcagggcggtaacGtcgtgggggcttcaacatca	13	11	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:62564806G>A	ENST00000532297.1	-	13	1735	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.T369M			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	369					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGGTAACGTCGTGGGGGC	0.498																																					p.T369M		Atlas-SNP	.											.	NXF1	67	.	0			c.C1106T						PASS	.						116	101	106					11																	62564806		2201	4299	6500	SO:0001583	missense	10482	exon12			GGTAACGTCGTGG	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1106C>T	11.37:g.62564806G>A	ENSP00000436679:p.Thr369Met	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	8.858	0.946327	0.18356	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	-7.16	0.01516	.	0.924293	0.09295	N	0.821746	T	0.57917	0.2086	M	0.62016	1.91	0.09310	N	0.999999	B;B	0.18461	0.028;0.005	B;B	0.16289	0.015;0.001	T	0.37549	-0.9701	10	0.29301	T	0.29	0.0011	20.7843	0.99721	0.1545:0.0:0.8455:0.0	.	412;369	E9PIN3;Q9UBU9	.;NXF1_HUMAN	M	369;369;412	ENSP00000294172:T369M;ENSP00000436679:T369M;ENSP00000435742:T412M	ENSP00000294172:T369M	T	-	2	0	NXF1	62321382	0.008000	0.16893	0.001000	0.08648	0.512000	0.34134	0.602000	0.24134	-1.382000	0.02109	-0.300000	0.09419	ACG	.	.	none		0.498	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		A	62564806	G	A	62564806	3	1	7	1	0	0	0	0	1	0	0	0	10782	1145	40	1	793	1	NXF1	11	62564806	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	6254477	62564806	72441710	106	1435										
PCF11	51585	hgsc.bcm.edu	37	chr11	82872427	82872427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggattctattgtgaaaaacgTtggaagagagtatctcactg	11	5	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:82872427T>G	ENST00000298281.4	+	2	703	c.251T>G	c.(250-252)gTt>gGt	p.V84G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	84	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTGAAAAACGTTGGAAGAGAG	0.328																																					p.V84G		Atlas-SNP	.											.	PCF11	220	.	0			c.T251G						PASS	.						87	82	84					11																	82872427		1811	4075	5886	SO:0001583	missense	51585	exon2			AAAACGTTGGAAG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.251T>G	11.37:g.82872427T>G	ENSP00000298281:p.Val84Gly	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	151	60	0.397351	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206596	0.79127	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.48522	0.81;0.81;0.81	5.66	5.66	0.87406	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.52532	D	0.000075	T	0.72930	0.3522	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.993;0.994	T	0.77387	-0.2607	9	.	.	.	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	84;84	E9PQ01;O94913	.;PCF11_HUMAN	G	84	ENSP00000298281:V84G;ENSP00000434540:V84G;ENSP00000431567:V84G	.	V	+	2	0	PCF11	82550075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.965000	0.87945	2.285000	0.76669	0.533000	0.62120	GTT	.	.	none		0.328	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82872427	T	G	82872427	3	3	7	1	0	0	0	0	1	0	0	0	11573	1725	60	5	257	5	PCF11	11	82872427	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	20307621	82872427	52134089	107	1436										
CCDC81	60494	hgsc.bcm.edu	37	chr11	86133616	86133616	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atttgctctcctctcctcagGgcttcagacaagctgtttct	7	13	5	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:86133616G>T	ENST00000445632.2	+	15	2090	c.1818G>T	c.(1816-1818)cgG>cgT	p.R606R	CCDC81_ENST00000278487.3_Splice_Site_p.R341R|CCDC81_ENST00000528728.1_Splice_Site_p.R341R|CCDC81_ENST00000354755.1_Splice_Site_p.R516R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	606										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTCTCCTCAGGGCTTCAGACA	0.557																																					p.R606R		Atlas-SNP	.											.	CCDC81	89	.	0			c.G1818T						PASS	.						67	64	65					11																	86133616		2202	4299	6501	SO:0001630	splice_region_variant	60494	exon15			CCTCAGGGCTTCA	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1818-1G>T	11.37:g.86133616G>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	42	20	0.47619	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	CCDS53691.1																																																																																			.	.	none		0.557	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	Silent	T	86133616	G	T	86133616	5	4	7	1	0	0	0	0	0	0	1	0	2855	1246	43	4	1876	4	CCDC81	11	86133616	Splice_Site	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	3261189	86133616	48872900	108	1437										
FAT3	120114	hgsc.bcm.edu	37	chr11	92495108	92495108	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gatgaaaatgacaacaagccCcagttcccagagaaggtcta	9	10	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:92495108C>G	ENST00000298047.6	+	4	3773	c.3756C>G	c.(3754-3756)ccC>ccG	p.P1252P	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Silent_p.P1102P|FAT3_ENST00000409404.2_Silent_p.P1252P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1252	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACAAGCCCCAGTTCCCAG	0.473										TCGA Ovarian(4;0.039)																											p.P1252P		Atlas-SNP	.											.	FAT3	1822	.	0			c.C3756G						PASS	.						182	178	179					11																	92495108		1912	4122	6034	SO:0001819	synonymous_variant	120114	exon4			CAAGCCCCAGTTC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3756C>G	11.37:g.92495108C>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	104	42	0.403846	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.	.	none		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92495108	C	G	92495108	2	3	7	1	0	0	0	0	0	0	0	1	5691	610	22	4		4	FAT3	11	92495108	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	6361492	92495108	42511408	109	1438										
IFT46	56912	hgsc.bcm.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																					p.92_93del		Atlas-Indel	.											.	IFT46	19	.	0			c.275_277del						PASS	.																																			SO:0001651	inframe_deletion	56912	exon5			.	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	135	10	0.0740741	NM_020153	A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	CCDS53718.1																																																																																			.	.	none		0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		-	118427685	ATC	-	118427683	7	5	7	1	0	1	0	1	0	0	0	0	7560	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-FA-A7Q1-01A-11D-A382-10	25932575	118427683	16578833	110	1439										
TECTA	7007	hgsc.bcm.edu	37	chr11	120989139	120989139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgtagcccctacgaggtgtgCgaacccaaaggcaaattctt	10	11	1	0	rs367974065		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr11:120989139C>T	ENST00000392793.1	+	7	1186	c.915C>T	c.(913-915)tgC>tgT	p.C305C	TECTA_ENST00000264037.2_Silent_p.C305C			O75443	TECTA_HUMAN	tectorin alpha	305	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGAGGTGTGCGAACCCAAAG	0.532																																					p.C305C		Atlas-SNP	.											.	TECTA	329	.	0			c.C915T						PASS	.	C		0,4406		0,0,2203	102	98	99		915	0.6	1	11		99	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		305/2156	120989139	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7007	exon6			GGTGTGCGAACCC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.915C>T	11.37:g.120989139C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			.	.	weak		0.532	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120989139	C	T	120989139	2	4	7	1	0	0	0	0	0	0	0	1	15744	776	27	1		1	TECTA	11	120989139	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	2561456	120989139	14017377	111	1440										
CD163L1	283316	hgsc.bcm.edu	37	chr12	7556213	7556213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtgcagtcccagagagctgaCtcattcccagtgcaagatat	10	11	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:7556213C>A	ENST00000313599.3	-	6	1383	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	CD163L1_ENST00000416109.2_Missense_Mutation_p.E452D|CD163L1_ENST00000396630.1_Missense_Mutation_p.E442D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	442	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGAGCTGACTCATTCCCAG	0.443																																					p.E442D		Atlas-SNP	.											.	CD163L1	238	.	0			c.G1326T						PASS	.						137	128	131					12																	7556213		2203	4300	6503	SO:0001583	missense	283316	exon6			AGCTGACTCATTC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1326G>T	12.37:g.7556213C>A	ENSP00000315945:p.Glu442Asp	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	118	64	0.542373	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956153	0.73902	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	2.22	-1.83	0.07833	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.65811	0.2727	M	0.93062	3.375	0.24263	N	0.995277	D;D	0.89917	1.0;0.999	D;D	0.85130	0.99;0.997	T	0.54951	-0.8216	9	0.56958	D	0.05	.	6.6862	0.23146	0.0:0.42:0.0:0.58	.	452;442	E7EVK4;Q9NR16	.;C163B_HUMAN	D	442;452;442;88	ENSP00000315945:E442D;ENSP00000393474:E452D;ENSP00000379871:E442D;ENSP00000439921:E88D	ENSP00000315945:E442D	E	-	3	2	CD163L1	7447480	0.000000	0.05858	0.081000	0.20488	0.925000	0.55904	-1.439000	0.02414	-0.460000	0.07003	0.563000	0.77884	GAG	.	.	none		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7556213	C	A	7556213	3	1	7	1	0	0	0	0	1	0	0	0	2968	564	20	4	3091	4	CD163L1	12	7556213	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		7556213	126295682	112	1441										
TAS2R14	50840	hgsc.bcm.edu	37	chr12	11091177	11091191	+	In_Frame_Del	DEL	CTTGCGATGTTTCCA	CTTGCGATGTTTCCA	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttgacagtgtgctgcatcttCttgcgatgtttccacatgga					rs137967465|rs145427921	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	CTTGCGATGTTTCCA	CTTGCGATGTTTCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:11091177_11091191delCTTGCGATGTTTCCA	ENST00000537503.1	-	1	671_685	c.616_630delTGGAAACATCGCAAG	c.(616-630)tggaaacatcgcaagdel	p.WKHRK206del	TAS2R14_ENST00000381852.4_Splice_Site|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GCTGCATCTTCTTGCGATGTTTCCACATGGAGAAG	0.423																																					p.206_211del		Pindel	.											.	TAS2R14	26	.	0			c.617_631del						PASS	.																																			SO:0001651	inframe_deletion	50840	exon1			.	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.616_630delTGGAAACATCGCAAG	12.37:g.11091177_11091191delCTTGCGATGTTTCCA	ENSP00000441949:p.Trp206_Lys210del	Somatic	89	.	.		WXS	Illumina HiSeq	Phase_I	139	45	0.324	NM_023922	Q645X3	In_Frame_Del	DEL	ENST00000537503.1	37	CCDS8637.1																																																																																			.	.	none		0.423	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		-	11091191	CTTGCGATGTTTCCA	-	11091177	7	5	7	1	0	1	0	1	0	0	0	0	15565	912	32	0	326	0	TAS2R14	12	11091177	In_Frame_Del	DEL	CTTGCGATGTTTCCA	TCGA-FA-A7Q1-01A-11D-A382-10	3534964	11091177	122760718	113	1442										
KRAS	3845	hgsc.bcm.edu	37	chr12	25398255	25398255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aaaatgattctgaattagctGtatcgtcaaggcactcttgc	8	8	3	2	rs121913236		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:25398255G>T	ENST00000256078.4	-	2	127	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	KRAS_ENST00000556131.1_Missense_Mutation_p.Q22K|KRAS_ENST00000311936.3_Missense_Mutation_p.Q22K|KRAS_ENST00000557334.1_Missense_Mutation_p.Q22K	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	22			Q -> E (in CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase- activating protein-stimulated GTP hydrolysis but functional in interaction with effectors). {ECO:0000269|PubMed:17056636}.|Q -> R (in NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q22K(8)|p.Q22*(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGAATTAGCTGTATCGTCAAG	0.363		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.Q22K	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Atlas-SNP	.		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,0,18	KRAS	30930	18	9	Substitution - Missense(8)|Substitution - Nonsense(1)	large_intestine(7)|haematopoietic_and_lymphoid_tissue(1)|small_intestine(1)	c.C64A	GRCh37	CM070964	KRAS	M	rs121913236	PASS	.						88	76	80					12																	25398255		2203	4300	6503	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	TTAGCTGTATCGT	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.64C>A	12.37:g.25398255G>T	ENSP00000256078:p.Gln22Lys	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	279	167	0.598566	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113031	0.94339	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79749	-1.3;-0.43;-0.43;-0.43	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90013	0.6882	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	D	0.90739	0.4648	10	0.87932	D	0	.	18.3719	0.90409	0.0:0.0:1.0:0.0	.	22;22	P01116-2;P01116	.;RASK_HUMAN	K	22	ENSP00000308495:Q22K;ENSP00000452512:Q22K;ENSP00000256078:Q22K;ENSP00000451856:Q22K	ENSP00000256078:Q22K	Q	-	1	0	KRAS	25289522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.770000	0.98971	2.668000	0.90789	0.563000	0.77884	CAG	.	.	weak		0.363	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		T	25398255	G	T	25398255	3	4	7	1	0	0	0	0	1	0	0	0	8438	1386	48	4	642	4	KRAS	12	25398255	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	14307078	25398255	108453640	114	1443										
KRT2	3849	hgsc.bcm.edu	37	chr12	53045601	53045603	+	In_Frame_Del	DEL	CTG	CTG	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctccaccgaaaccaccaccaCtgaagccgctgccacctcca					rs369691469		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:53045601_53045603delCTG	ENST00000309680.3	-	1	345_347	c.324_326delCAG	c.(322-327)ttcagt>ttt	p.S109del		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	109	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		accaccaccactgaagccgctgc	0.635																																					p.109_109del		Atlas-Indel	.											.	KRT2	94	.	0			c.325_327del						PASS	.			45,4193		0,45,2074						-3.5	0.4		dbSNP_126	33	375,7857		0,375,3741	no	coding	KRT2	NM_000423.2		0,420,5815	A1A1,A1R,RR		4.5554,1.0618,3.3681				420,12050				SO:0001651	inframe_deletion	3849	exon1			.		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.324_326delCAG	12.37:g.53045601_53045603delCTG	ENSP00000310861:p.Ser109del	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	89	11	0.123596	NM_000423	Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	CCDS8835.1																																																																																			.	.	weak		0.635	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		-	53045603	CTG	-	53045601	7	5	7	1	0	1	0	1	0	0	0	0	8457	565	20	0	1629	0	KRT2	12	53045601	In_Frame_Del	DEL	CTG	TCGA-FA-A7Q1-01A-11D-A382-10	27647346	53045601	80806294	115	1444										
KRT3	3850	hgsc.bcm.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	caccaaagccaccaggaccaCcaaagccaccagcccctcca					rs148531142|rs184322044|rs142692092		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																					p.133_138del		Pindel	.											.	KRT3	65	.	0			c.397_414del						PASS	.			595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850	exon1			.		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del	Somatic	38	.	.		WXS	Illumina HiSeq	Phase_I	62	10	0.161	NM_057088	A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	CCDS44895.1																																																																																			.	.	none		0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	7	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-FA-A7Q1-01A-11D-A382-10	143813	53189414	80662481	116	1445										
KRT4	3851	hgsc.bcm.edu	37	chr12	53207603	53207603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccaccaaagccaccagtgccAaagcctccagcacccccaaa	5	20	0	0	rs7135148		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:53207603A>G	ENST00000551956.1	-	1	732	c.240T>C	c.(238-240)ttT>ttC	p.F80F	KRT4_ENST00000458244.2_Silent_p.F60F|KRT4_ENST00000293774.4_Silent_p.F154F			P19013	K2C4_HUMAN	keratin 4	80	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACCAGTGCCAAAGCCTCCAG	0.602																																					p.F80F	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											KRT4,rectum,carcinoma,0,1	KRT4	110	1	0			c.T240C						scavenged	.						82	99	94					12																	53207603		2119	4253	6372	SO:0001819	synonymous_variant	3851	exon1			AGTGCCAAAGCCT		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240T>C	12.37:g.53207603A>G		Somatic	31	1	0.0322581		WXS	Illumina HiSeq	Phase_I	61	30	0.491803	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																			A|1.000;|0.000	.	weak		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		G	53207603	A	G	53207603	2	3	7	1	0	0	0	0	0	0	0	1	8477	127	5	2		2	KRT4	12	53207603	Silent	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	18189	53207603	80644292	117	1446										
KRT79	338785	hgsc.bcm.edu	37	chr12	53216988	53216988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gccagctccccacgctgctcCgcttccgcaatggccgtctg	10	19	1	0	rs573197551		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:53216988C>T	ENST00000330553.5	-	7	1213	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	393	Coil 2.|Rod.		A -> V (in dbSNP:rs17688627).			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACGCTGCTCCGCTTCCGCAA	0.622																																					p.A393A		Atlas-SNP	.											.	KRT79	78	.	0			c.G1179A						PASS	.						67	62	64					12																	53216988		2203	4300	6503	SO:0001819	synonymous_variant	338785	exon7			CTGCTCCGCTTCC	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1179G>A	12.37:g.53216988C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	101	68	0.673267	NM_175834	Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	CCDS8839.1																																																																																			.	.	none		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		T	53216988	C	T	53216988	2	4	7	1	0	0	0	0	0	0	0	1	8492	639	23	1		1	KRT79	12	53216988	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	9385	53216988	80634907	118	1447										
AVIL	10677	hgsc.bcm.edu	37	chr12	58197059	58197059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggtatctaggagcatcacgtCagtagggttcaggtcatcct	12	9	5	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:58197059C>T	ENST00000257861.3	-	15	2363	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	TSFM_ENST00000548851.1_Intron|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000550083.1_5'Flank|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.D638N	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	645	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGCATCACGTCAGTAGGGTTC	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D645N		Atlas-SNP	.											.	AVIL	60	.	0			c.G1933A						PASS	.						225	197	206					12																	58197059		2203	4300	6503	SO:0001583	missense	10677	exon15			TCACGTCAGTAGG	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1933G>A	12.37:g.58197059C>T	ENSP00000257861:p.Asp645Asn	Somatic	125	0	0	1029	WXS	Illumina HiSeq	Phase_I	199	58	0.291457	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773527	0.69992	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.22134	1.97;1.97	4.74	4.74	0.60224	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.91663	3.23	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.971	T	0.67260	-0.5715	10	0.87932	D	0	-11.8772	16.6465	0.85178	0.0:1.0:0.0:0.0	.	638;645	O75366-2;O75366	.;AVIL_HUMAN	N	638;645	ENSP00000443207:D638N;ENSP00000257861:D645N	ENSP00000257861:D645N	D	-	1	0	AVIL	56483326	1.000000	0.71417	0.627000	0.29227	0.033000	0.12548	7.605000	0.82844	2.458000	0.83093	0.561000	0.74099	GAC	.	.	none		0.478	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58197059	C	T	58197059	3	4	7	1	0	0	0	0	1	0	0	0	1227	826	29	2	546	2	AVIL	12	58197059	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	4980071	58197059	75654836	119	1448										
NTN4	59277	hgsc.bcm.edu	37	chr12	96076600	96076600	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccagtctatgtctgtgtggcTaacaaaatagaacatgataa	8	7	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:96076600T>C	ENST00000343702.4	-	7	1843		c.e7-2		NTN4_ENST00000538383.1_Splice_Site|NTN4_ENST00000344911.4_Splice_Site|NTN4_ENST00000553059.1_Splice_Site	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTGTGTGGCTAACAAAATAG	0.413																																					.		Atlas-SNP	.											.	NTN4	67	.	0			c.1395-2A>G						PASS	.						100	89	93					12																	96076600		2203	4300	6503	SO:0001630	splice_region_variant	59277	exon8			TGTGGCTAACAAA	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1395-2A>G	12.37:g.96076600T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Splice_Site	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364696	0.41902	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1749	0.72903	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NTN4	94600731	1.000000	0.71417	0.395000	0.26283	0.405000	0.30901	5.424000	0.66464	1.996000	0.58369	0.260000	0.18958	.	.	.	none		0.413	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	Intron	C	96076600	T	C	96076600	5	2	7	1	0	0	0	0	0	0	1	0	10702	1536	53	3	509	3	NTN4	12	96076600	Splice_Site	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	37879541	96076600	37775295	120	1449										
BCL7A	605	hgsc.bcm.edu	37	chr12	122460020	122460020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtcgggcaggtcggttcgagCcgagacgaggagccgggcca	19	11	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:122460020C>T	ENST00000261822.4	+	1	229	c.23C>T	c.(22-24)gCc>gTc	p.A8V	RP11-87C12.5_ENST00000538710.1_lincRNA|BCL7A_ENST00000538010.1_Missense_Mutation_p.A8V	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	8					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TCGGTTCGAGCCGAGACGAGG	0.711			T	MYC	BNHL																																p.A8V	GBM(17;197 467 16477 23242 44349)	Atlas-SNP	.		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	.	BCL7A	31	.	0			c.C23T						PASS	.						20	21	20					12																	122460020		2194	4293	6487	SO:0001583	missense	605	exon1			TTCGAGCCGAGAC	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.23C>T	12.37:g.122460020C>T	ENSP00000261822:p.Ala8Val	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029586	0.75504	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.63096	-0.02;0.04	4.24	3.35	0.38373	.	0.000000	0.85682	U	0.000000	T	0.76054	0.3934	M	0.77820	2.39	0.80722	D	1	B;D	0.71674	0.006;0.998	B;D	0.73380	0.014;0.98	T	0.76974	-0.2760	10	0.87932	D	0	.	9.7713	0.40591	0.0:0.8948:0.0:0.1052	.	8;8	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	V	8	ENSP00000445868:A8V;ENSP00000261822:A8V	ENSP00000261822:A8V	A	+	2	0	BCL7A	120944403	1.000000	0.71417	0.997000	0.53966	0.418000	0.31294	5.746000	0.68681	0.781000	0.33589	0.460000	0.39030	GCC	.	.	none		0.711	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			T	122460020	C	T	122460020	3	4	7	1	0	0	0	0	1	0	0	0	1378	739	26	2	25	2	BCL7A	12	122460020	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	26383420	122460020	11391875	121	1450										
GALNT9	50614	hgsc.bcm.edu	37	chr12	132837584	132837584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aagaagccgacgactggggcGgtggccgccttccagccctg	15	14	0	1	rs530313026		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:132837584G>A	ENST00000328957.8	-	4	710	c.711C>T	c.(709-711)acC>acT	p.T237T	GALNT9_ENST00000535208.1_5'UTR	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	237	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGACTGGGGCGGTGGCCGCCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15137	0.0		0.001	False		,,,				2504	0.0				p.T237T	Colon(186;2147 2752 13553 41466)	Atlas-SNP	.											.	GALNT9	74	.	0			c.C711T						PASS	.						29	34	32					12																	132837584		692	1591	2283	SO:0001819	synonymous_variant	50614	exon4			TGGGGCGGTGGCC	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.711C>T	12.37:g.132837584G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	53	31	0.584906	NM_001122636	Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	37																																																																																				.	.	none		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		A	132837584	G	A	132837584	2	1	7	1	0	0	0	0	0	0	0	1	6220	1103	39	1		1	GALNT9	12	132837584	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	10377564	132837584	1014311	122	1451										
POLE	5426	hgsc.bcm.edu	37	chr12	133240614	133240614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accatgatgttcaacatggcGcctgggtaggagatggtcac	13	9	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr12:133240614G>A	ENST00000320574.5	-	23	2725	c.2682C>T	c.(2680-2682)ggC>ggT	p.G894G	POLE_ENST00000535270.1_Silent_p.G867G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	894					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCAACATGGCGCCTGGGTAGG	0.547								DNA polymerases (catalytic subunits)																													p.G894G		Atlas-SNP	.											.	POLE	416	.	0			c.C2682T						PASS	.						196	179	185					12																	133240614		2203	4300	6503	SO:0001819	synonymous_variant	5426	exon23			CATGGCGCCTGGG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2682C>T	12.37:g.133240614G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	145	28	0.193103	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																			.	.	none		0.547	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133240614	G	A	133240614	2	1	7	1	0	0	0	0	0	0	0	1	12196	1074	38	1		1	POLE	12	133240614	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	403030	133240614	611281	123	1452										
TPP2	7174	hgsc.bcm.edu	37	chr13	103316014	103316017	+	Frame_Shift_Del	DEL	ATTT	ATTT	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ataggctggattctagtgacAtttataacgaattgaaagaa					rs370265663		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	ATTT	ATTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr13:103316014_103316017delATTT	ENST00000376065.4	+	25	3157_3160	c.3121_3124delATTT	c.(3121-3126)atttatfs	p.IY1041fs	TPP2_ENST00000376052.3_Frame_Shift_Del_p.IY1054fs|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1041					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCTAGTGACATTTATAACGAATT	0.304																																					p.1040_1041del		Pindel,Atlas-Indel	.											.	TPP2	124	.	0			c.3120_3123del						PASS	.																																			SO:0001589	frameshift_variant	7174	exon25			.	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3121_3124delATTT	13.37:g.103316014_103316017delATTT	ENSP00000365233:p.Ile1041fs	Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	63	37	0.587	NM_003291	Q5VZU8	Frame_Shift_Del	DEL	ENST00000376065.4	37	CCDS9502.1																																																																																			.	.	none		0.304	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			-	103316017	ATTT	-	103316014	7	5	7	1	0	1	0	1	0	0	0	0	16409	217	8	0	3219	0	TPP2	13	103316014	Frame_Shift_Del	DEL	ATTT	TCGA-FA-A7Q1-01A-11D-A382-10		103316014	11853864	124	1453										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103528055	103528055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aggagaacagctgcgaaagaGccaaaaaccagtgcttcaga	11	9	1	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr13:103528055G>T	ENST00000355739.4	+	15	4786	c.3363G>T	c.(3361-3363)gaG>gaT	p.E1121D	ERCC5_ENST00000375954.1_Missense_Mutation_p.E354D|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1121					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGCGAAAGAGCCAAAAACCA	0.473			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E1575D		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.G4725T						PASS	.						45	44	45					13																	103528055		2203	4300	6503	SO:0001583	missense	0	exon23	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GAAAGAGCCAAAA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3363G>T	13.37:g.103528055G>T	ENSP00000347978:p.Glu1121Asp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	64	59	0.921875	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.015967	0.19355	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.06933	3.57;3.24	4.68	0.389	0.16269	.	1.270480	0.05133	N	0.492840	T	0.07188	0.0182	L	0.41236	1.265	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43589	-0.9382	10	0.15952	T	0.53	0.7098	4.9663	0.14093	0.074:0.1278:0.5347:0.2634	.	1121	P28715	ERCC5_HUMAN	D	1546;1121;953;354	ENSP00000347978:E1121D;ENSP00000365121:E354D	ENSP00000347978:E1121D	E	+	3	2	ERCC5	102326056	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.024000	0.12435	0.108000	0.17862	0.650000	0.86243	GAG	.	.	none		0.473	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103528055	G	T	103528055	3	4	7	1	0	0	0	0	1	0	0	0	5216	962	34	4	3421	4	ERCC5	13	103528055	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	212041	103528055	11641823	125	1454										
DHRS2	10202	hgsc.bcm.edu	37	chr14	24108080	24108080	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agacaccaaccactatgctgTcagcagttgcccggggctac	10	14	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr14:24108080T>A	ENST00000250383.6	+	2	483	c.7T>A	c.(7-9)Tca>Aca	p.S3T	DHRS2_ENST00000344777.7_Missense_Mutation_p.S3T|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	3					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CACTATGCTGTCAGCAGTTGC	0.532																																					p.S3T		Atlas-SNP	.											.	DHRS2	78	.	0			c.T7A						PASS	.						116	114	115					14																	24108080		2203	4300	6503	SO:0001583	missense	10202	exon2			ATGCTGTCAGCAG		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.7T>A	14.37:g.24108080T>A	ENSP00000250383:p.Ser3Thr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	22	0.4	NM_182908	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.923926	0.34002	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	D;T;D	0.81996	-1.53;-1.49;-1.56	5.34	-4.87	0.03123	.	2.990420	0.01149	N	0.006375	T	0.62588	0.2440	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.007	B;B	0.15870	0.014;0.008	T	0.50783	-0.8787	10	0.54805	T	0.06	.	0.6026	0.00747	0.3661:0.2175:0.1113:0.305	.	3;3	C9JZP6;D3DS54	.;.	T	3	ENSP00000401213:S3T;ENSP00000250383:S3T;ENSP00000344674:S3T	ENSP00000250383:S3T	S	+	1	0	DHRS2	23177920	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.808000	0.04515	-0.712000	0.04988	-0.251000	0.11542	TCA	.	.	none		0.532	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		A	24108080	T	A	24108080	3	1	7	1	0	0	0	0	1	0	0	0	4490	1667	58	5	9	5	DHRS2	14	24108080	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10		24108080	83241460	126	1455										
ADCY4	196883	hgsc.bcm.edu	37	chr14	24802153	24802153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agcgagaagccgcccagcgcGcacagcacagtggtcaggaa	14	13	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr14:24802153G>A	ENST00000310677.4	-	3	314	c.201C>T	c.(199-201)tgC>tgT	p.C67C	ADCY4_ENST00000418030.2_Silent_p.C67C|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000554068.2_Silent_p.C67C|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.R134C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	67					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGCCCAGCGCGCACAGCACAG	0.647											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C67C		Atlas-SNP	.											.	ADCY4	86	.	0			c.C201T						PASS	.						27	36	33					14																	24802153		2202	4299	6501	SO:0001819	synonymous_variant	196883	exon3			CAGCGCGCACAGC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.201C>T	14.37:g.24802153G>A		Somatic	67	0	0	774	WXS	Illumina HiSeq	Phase_I	47	22	0.468085	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202543	0.58234	.	.	ENSG00000258973	ENST00000555591	.	.	.	5.66	-0.729	0.11158	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38178	-0.9673	4	.	.	.	.	5.6811	0.17776	0.5148:0.1478:0.3374:0.0	.	.	.	.	C	134	.	.	R	-	1	0	RP11-934B9.3	23871993	0.000000	0.05858	0.911000	0.35937	0.919000	0.55068	-0.592000	0.05747	-0.129000	0.11620	-0.266000	0.10368	CGC	.	.	none		0.647	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24802153	G	A	24802153	2	1	7	1	0	0	0	0	0	0	0	1	296	1079	38	1		1	ADCY4	14	24802153	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	694073	24802153	82547387	127	1456										
PSEN1	5663	hgsc.bcm.edu	37	chr14	73640277	73640277	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgtttgttttattgtagaatCtataccccattcacagaaga	6	7	2	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr14:73640277C>T	ENST00000324501.5	+	5	614	c.342C>T	c.(340-342)atC>atT	p.I114I	PSEN1_ENST00000261970.3_Silent_p.I114I|PSEN1_ENST00000406768.1_Silent_p.I22I|PSEN1_ENST00000394164.1_Silent_p.I110I|PSEN1_ENST00000344094.3_Silent_p.I114I|PSEN1_ENST00000357710.4_Silent_p.I110I|PSEN1_ENST00000394157.3_Silent_p.I114I|PSEN1_ENST00000557511.1_Silent_p.I114I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	114					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATTGTAGAATCTATACCCCAT	0.413																																					p.I114I		Atlas-SNP	.											.	PSEN1	38	.	0			c.C342T						PASS	.						137	133	134					14																	73640277		2203	4300	6503	SO:0001819	synonymous_variant	5663	exon5			TAGAATCTATACC	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.342C>T	14.37:g.73640277C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	198	73	0.368687	NM_000021	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	ENST00000324501.5	37	CCDS9812.1																																																																																			.	.	none		0.413	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			T	73640277	C	T	73640277	2	4	7	1	0	0	0	0	0	0	0	1	12650	903	32	2		2	PSEN1	14	73640277	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	48838124	73640277	33709263	128	1457										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493809	77493809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgctgttgctgctgctgctgCtgctgttgctgttgctgttg	14	9	0	0	rs61991638		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr14:77493809C>T	ENST00000238647.3	-	1	1225	c.327G>A	c.(325-327)caG>caA	p.Q109Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	109	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgctgctgttgct	0.687																																					p.Q109Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.G327A						PASS	.						2	2	2					14																	77493809		1179	2145	3324	SO:0001819	synonymous_variant	64207	exon1			CTGCTGCTGCTGT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.327G>A	14.37:g.77493809C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	36	7	0.194444	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			C|0.978;T|0.022	0.022	strong		0.687	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		T	77493809	C	T	77493809	2	4	7	1	0	0	0	0	0	0	0	1	1773	796	28	2		2	C14orf4	14	77493809	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	3853532	77493809	29855731	129	1458										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412163	105412163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtggccctctgggagcttcaCgtccacctggccagcctgga	13	15	2	0	rs201181175		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr14:105412163C>G	ENST00000333244.5	-	7	9744	c.9625G>C	c.(9625-9627)Gtg>Ctg	p.V3209L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3209						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGCTTCACGTCCACCTGG	0.607																																					p.V3209L		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.G9625C						scavenged	.						108	70	83					14																	105412163		1920	3847	5767	SO:0001583	missense	113146	exon7			GCTTCACGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9625G>C	14.37:g.105412163C>G	ENSP00000353114:p.Val3209Leu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	82	3	0.0365854	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.043	0.990179	0.18966	.	.	ENSG00000185567	ENST00000333244	T	0.01119	5.31	2.98	-2.26	0.06867	.	.	.	.	.	T	0.00906	0.0030	L	0.35723	1.085	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.48875	-0.8996	9	0.22109	T	0.4	.	0.8864	0.01245	0.2903:0.3589:0.1435:0.2074	.	3209	Q8IVF2	AHNK2_HUMAN	L	3209	ENSP00000353114:V3209L	ENSP00000353114:V3209L	V	-	1	0	AHNAK2	104483208	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.193000	0.00564	-0.054000	0.13266	0.313000	0.20887	GTG	.	.	weak		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412163	C	G	105412163	3	3	7	1	0	0	0	0	1	0	0	0	415	536	19	4	7766	4	AHNAK2	14	105412163	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	27918354	105412163	1937377	130	1459										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27772698	27772698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgtgcttcctgtttgtcttcGccgcgctgatggagtatgcc	12	11	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:27772698G>A	ENST00000333743.6	+	8	1239	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	329					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTTGTCTTCGCCGCGCTGAT	0.542																																					p.A329T	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.G985A						PASS	.						119	108	112					15																	27772698		2157	4267	6424	SO:0001583	missense	2567	exon8			GTCTTCGCCGCGC		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.985G>A	15.37:g.27772698G>A	ENSP00000331912:p.Ala329Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	90	12	0.133333	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422249	0.83559	.	.	ENSG00000182256	ENST00000333743	D	0.84660	-1.88	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	M	0.67700	2.07	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	D	0.91538	0.5247	10	0.66056	D	0.02	.	18.3414	0.90307	0.0:0.0:1.0:0.0	.	329	Q99928	GBRG3_HUMAN	T	329	ENSP00000331912:A329T	ENSP00000331912:A329T	A	+	1	0	GABRG3	25446293	1.000000	0.71417	0.987000	0.45799	0.552000	0.35366	6.201000	0.72124	2.562000	0.86427	0.563000	0.77884	GCC	.	.	none		0.542	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			A	27772698	G	A	27772698	3	1	7	1	0	0	0	0	1	0	0	0	6173	1087	38	1	1015	1	GABRG3	15	27772698	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		27772698	74758694	131	1460										
FMN1	342184	hgsc.bcm.edu	37	chr15	33359827	33359827	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	atttccgaggtcaggtgaaaCccgagaccctgcttcctgtg	11	12	1	2	rs570854143		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:33359827C>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.V87F|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.V87F			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCAGGTGAAACCCGAGACCCT	0.483																																					p.V87F		Atlas-SNP	.											.	FMN1	174	.	0			c.G259T						PASS	.						73	72	72					15																	33359827		1927	4150	6077	SO:0001627	intron_variant	342184	exon1			GTGAAACCCGAGA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2552G>T	15.37:g.33359827C>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	161	67	0.416149	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	1.806	-0.475955	0.04414	.	.	ENSG00000248905	ENST00000334528	T	0.39787	1.06	4.92	1.71	0.24356	.	.	.	.	.	T	0.28532	0.0706	.	.	.	.	.	.	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.003	T	0.28554	-1.0040	7	0.66056	D	0.02	.	4.1619	0.10287	0.1924:0.6092:0.0:0.1984	.	87;87	Q68DA7-3;Q68DA7-5	.;.	F	87	ENSP00000333950:V87F	ENSP00000333950:V87F	V	-	1	0	FMN1	31147119	0.000000	0.05858	0.009000	0.14445	0.019000	0.09904	-0.153000	0.10144	0.651000	0.30788	-0.137000	0.14449	GTT	.	.	none		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		A	33359827	C	A	33359827	1	1	7	0	1	0	0	0	0	0	0	0	5949	507	18	4		4	FMN1	15	33359827	Intron	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	5587129	33359827	69171565	132	1461										
MYO1E	4643	hgsc.bcm.edu	37	chr15	59506886	59506886	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	taggacgccaatgttgtattCttcatggtctttctccatgg	9	9	4	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:59506886C>A	ENST00000288235.4	-	11	1540	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	AC092756.1_ENST00000401164.1_RNA|RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	381	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATGTTGTATTCTTCATGGTCT	0.428																																					p.E381X		Atlas-SNP	.											.	MYO1E	99	.	0			c.G1141T						PASS	.						202	191	195					15																	59506886		2190	4290	6480	SO:0001587	stop_gained	4643	exon11			TGTATTCTTCATG	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1141G>T	15.37:g.59506886C>A	ENSP00000288235:p.Glu381*	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	173	70	0.404624	NM_004998	Q14778	Nonsense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546839	0.96488	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.14	5.14	0.70334	.	0.043917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.1568	0.93514	0.0:1.0:0.0:0.0	.	.	.	.	X	381	.	ENSP00000288235:E381X	E	-	1	0	MYO1E	57294178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.832000	0.97577	0.655000	0.94253	GAA	.	.	none		0.428	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		A	59506886	C	A	59506886	4	1	7	1	0	0	0	0	0	1	0	0	10072	922	32	4	2257	4	MYO1E	15	59506886	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	26147059	59506886	43024506	133	1462										
TLN2	83660	hgsc.bcm.edu	37	chr15	63128104	63128104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccccaggcccggatggtggcGgctgcgaccagcagtctctg	15	15	1	0	rs74020685		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:63128104G>A	ENST00000561311.1	+	56	7436	c.7206G>A	c.(7204-7206)gcG>gcA	p.A2402A	TLN2_ENST00000306829.6_Silent_p.A2402A|RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2402	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGATGGTGGCGGCTGCGACCA	0.622																																					p.A2402A		Atlas-SNP	.											.	TLN2	253	.	0			c.G7206A						PASS	.						59	64	62					15																	63128104		2203	4300	6503	SO:0001819	synonymous_variant	83660	exon54			GGTGGCGGCTGCG	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7206G>A	15.37:g.63128104G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	91	35	0.384615	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																			G|0.999;C|0.001	.	alt		0.622	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63128104	G	A	63128104	2	1	7	1	0	0	0	0	0	0	0	1	15945	1103	39	1		1	TLN2	15	63128104	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	3621218	63128104	39403288	134	1463										
UACA	55075	hgsc.bcm.edu	37	chr15	71055671	71055671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccggaccgcgggactcaccgCgctggcggcggcggcgccag	18	17	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:71055671C>T	ENST00000322954.6	-	1	261	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	UACA_ENST00000539319.1_Missense_Mutation_p.A26T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	26	Poly-Ala.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGACTCACCGCGCTGGCGGCG	0.731																																					p.A26T		Atlas-SNP	.											.	UACA	235	.	0			c.G76A						PASS	.						2	4	3					15																	71055671		1383	2742	4125	SO:0001583	missense	55075	exon1			TCACCGCGCTGGC	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.76G>A	15.37:g.71055671C>T	ENSP00000314556:p.Ala26Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	111	52	0.468468	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497322	0.26861	.	.	ENSG00000137831	ENST00000322954;ENST00000539319	T;T	0.34472	1.36;1.77	4.82	1.71	0.24356	.	1.180030	0.06665	N	0.765191	T	0.12689	0.0308	N	0.02539	-0.55	0.23665	N	0.997162	B;B	0.24132	0.098;0.027	B;B	0.16289	0.015;0.003	T	0.28106	-1.0054	10	0.12103	T	0.63	-0.4557	3.4056	0.07340	0.1748:0.5599:0.1692:0.0961	.	26;26	F5H2B9;Q9BZF9	.;UACA_HUMAN	T	26	ENSP00000314556:A26T;ENSP00000438667:A26T	ENSP00000314556:A26T	A	-	1	0	UACA	68842725	0.910000	0.30920	1.000000	0.80357	0.946000	0.59487	-0.164000	0.09983	0.436000	0.26393	0.484000	0.47621	GCG	.	.	none		0.731	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	71055671	C	T	71055671	3	4	7	1	0	0	0	0	1	0	0	0	16821	768	27	1	4293	1	UACA	15	71055671	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	7927567	71055671	31475721	135	1464										
CSK	1445	hgsc.bcm.edu	37	chr15	75094222	75094223	+	Frame_Shift_Del	DEL	GA	GA	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tggacagcccctgaggccctGagagagaaggtggggctggc							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:75094222_75094223delGA	ENST00000220003.9	+	11	1803_1804	c.1074_1075delGA	c.(1072-1077)ctgagafs	p.R359fs	CSK_ENST00000439220.2_Frame_Shift_Del_p.R359fs|CSK_ENST00000567571.1_Frame_Shift_Del_p.R359fs|CSK_ENST00000309470.9_Frame_Shift_Del_p.R359fs	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CTGAGGCCCTGAGAGAGAAGGT	0.644																																					p.358_358del		Pindel,Atlas-Indel	.											.	CSK	43	.	0			c.1073_1074del						PASS	.																																			SO:0001589	frameshift_variant	1445	exon12			.		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1074_1075delGA	15.37:g.75094228_75094229delGA	ENSP00000220003:p.Arg359fs	Somatic	65	.	.		WXS	Illumina HiSeq	Phase_I	61	17	0.279	NM_001127190	Q2M3N2|Q6FGZ6	Frame_Shift_Del	DEL	ENST00000220003.9	37	CCDS10269.1																																																																																			.	.	none		0.644	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		-	75094223	GA	-	75094222	7	5	7	1	0	1	0	1	0	0	0	0	3943	1277	45	0	1112	0	CSK	15	75094222	Frame_Shift_Del	DEL	GA	TCGA-FA-A7Q1-01A-11D-A382-10	4038551	75094222	27437170	136	1465										
CSPG4	1464	hgsc.bcm.edu	37	chr15	75980082	75980082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtggcctggtgttgcccgtcGgacacctgcagctggatcca	14	13	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr15:75980082G>A	ENST00000308508.5	-	3	3416	c.3324C>T	c.(3322-3324)tcC>tcT	p.S1108S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1108	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTTGCCCGTCGGACACCTGCA	0.662																																					p.S1108S		Atlas-SNP	.											.	CSPG4	175	.	0			c.C3324T						PASS	.						54	53	54					15																	75980082		2196	4290	6486	SO:0001819	synonymous_variant	1464	exon3			CCCGTCGGACACC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3324C>T	15.37:g.75980082G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			.	.	none		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75980082	G	A	75980082	2	1	7	1	0	0	0	0	0	0	0	1	3960	1103	39	1		1	CSPG4	15	75980082	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	885860	75980082	26551310	137	1466										
TRAF7	84231	hgsc.bcm.edu	37	chr16	2226351	2226351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gctggctgtgtcccggggccGactcttctcaggggctgtgg	17	12	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:2226351G>A	ENST00000326181.6	+	20	2096	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	655					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCCCGGGGCCGACTCTTCTCA	0.642																																					p.R655Q		Atlas-SNP	.											.	TRAF7	158	.	0			c.G1964A						PASS	.						22	21	21					16																	2226351		2186	4297	6483	SO:0001583	missense	84231	exon20			GGGGCCGACTCTT	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1964G>A	16.37:g.2226351G>A	ENSP00000318944:p.Arg655Gln	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_032271	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670240	0.67814	.	.	ENSG00000131653	ENST00000326181	T	0.60299	0.2	5.45	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	L	0.31476	0.935	0.80722	D	1	D	0.69078	0.997	P	0.55011	0.766	T	0.58103	-0.7695	10	0.42905	T	0.14	-32.9563	14.7786	0.69749	0.0:0.1449:0.8551:0.0	.	655	Q6Q0C0	TRAF7_HUMAN	Q	655	ENSP00000318944:R655Q	ENSP00000318944:R655Q	R	+	2	0	TRAF7	2166352	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.039000	0.76544	2.564000	0.86499	0.514000	0.50259	CGA	.	.	none		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		A	2226351	G	A	2226351	3	1	7	1	0	0	0	0	1	0	0	0	16443	1058	37	1	2038	1	TRAF7	16	2226351	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		2226351	88128402	138	1467										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3828721	3828721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cctgctgttggcagactcgtAcatgtccccttccactttct	7	15	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:3828721A>G	ENST00000262367.5	-	9	2730	c.1921T>C	c.(1921-1923)Tac>Cac	p.Y641H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y603H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	641	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGACTCGTACATGTCCCCT	0.512			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.Y641H		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.T1921C						PASS	.						214	185	195					16																	3828721		2197	4300	6497	SO:0001583	missense	1387	exon9			ACTCGTACATGTC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1921T>C	16.37:g.3828721A>G	ENSP00000262367:p.Tyr641His	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	120	49	0.408333	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875661	0.72180	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.91843	-2.92;-2.87	5.01	5.01	0.66863	Coactivator CBP, KIX (4);	0.000000	0.64402	D	0.000003	D	0.96216	0.8766	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96923	0.9675	10	0.87932	D	0	-11.1709	15.0035	0.71492	1.0:0.0:0.0:0.0	.	671;641	Q4LE28;Q92793	.;CBP_HUMAN	H	641;671;603	ENSP00000262367:Y641H;ENSP00000371502:Y603H	ENSP00000262367:Y641H	Y	-	1	0	CREBBP	3768722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.206000	0.95056	1.999000	0.58509	0.460000	0.39030	TAC	.	.	none		0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3828721	A	G	3828721	3	3	7	1	0	0	0	0	1	0	0	0	3861	391	14	2	5499	2	CREBBP	16	3828721	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	1602370	3828721	86526032	139	1468										
CIITA	4261	hgsc.bcm.edu	37	chr16	11001721	11001721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gaagcagaaggtgcttgcgaGgtacctgaagcggctgcagc	16	9	0	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:11001721G>A	ENST00000324288.8	+	11	2505	c.2372G>A	c.(2371-2373)aGg>aAg	p.R791K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	791					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGCTTGCGAGGTACCTGAAG	0.697			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.R791K		Atlas-SNP	.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA	92	.	0			c.G2372A						PASS	.						23	30	28					16																	11001721		2182	4284	6466	SO:0001583	missense	4261	exon11			TTGCGAGGTACCT	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2372G>A	16.37:g.11001721G>A	ENSP00000316328:p.Arg791Lys	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105447	0.01828	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.72394	-0.65	5.0	-0.459	0.12179	.	0.293212	0.25613	N	0.029465	T	0.52948	0.1766	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.002	T	0.34428	-0.9829	10	0.14656	T	0.56	.	9.8101	0.40817	0.5445:0.0:0.4555:0.0	.	791;791;743;791	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	K	791;743	ENSP00000316328:R791K	ENSP00000316328:R791K	R	+	2	0	CIITA	10909222	0.087000	0.21565	0.029000	0.17559	0.002000	0.02628	0.791000	0.26915	-0.059000	0.13154	-0.812000	0.03155	AGG	.	.	none		0.697	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		A	11001721	G	A	11001721	3	1	7	1	0	0	0	0	1	0	0	0	3428	1000	35	2	2414	2	CIITA	16	11001721	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	7173000	11001721	79353032	140	1469										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348972	11348972	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cacgcggatgctcgtgggtcCcgaggccatcttcacgctaa	12	14	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:11348972C>A	ENST00000332029.2	-	2	514	c.364G>T	c.(364-366)Gga>Tga	p.G122*	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	122	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R107_I126del(1)|p.Y64fs*1(1)|p.K118_P123>T(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CTCGTGGGTCCCGAGGCCATC	0.672			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.G122X	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)	c.G364T						PASS	.						17	19	19					16																	11348972		2191	4297	6488	SO:0001587	stop_gained	8651	exon2			TGGGTCCCGAGGC	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.364G>T	16.37:g.11348972C>A	ENSP00000329418:p.Gly122*	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_003745	O15097|Q9NSA7	Nonsense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989914	0.93106	.	.	ENSG00000185338	ENST00000332029	.	.	.	4.19	4.19	0.49359	.	0.172438	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-21.9138	15.6933	0.77473	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000329418:G122X	G	-	1	0	SOCS1	11256473	0.999000	0.42202	1.000000	0.80357	0.485000	0.33311	2.783000	0.47766	2.176000	0.68965	0.561000	0.74099	GGA	.	.	none		0.672	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11348972	C	A	11348972	4	1	7	1	0	0	0	0	0	1	0	0	14913	632	22	4	275	4	SOCS1	16	11348972	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	347251	11348972	79005781	141	1470										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11349096	11349096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgcacgctcaggggcccccaGtagaatccgcaggcgtccag	13	15	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:11349096G>A	ENST00000332029.2	-	2	390	c.240C>T	c.(238-240)taC>taT	p.Y80Y	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	80	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.Y64fs*1(1)|p.Y80*(1)|p.0?(1)|p.D63_Q108del(1)|p.S71fs*29(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GGGGCCCCCAGTAGAATCCGC	0.726			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.Y80Y	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,lymph_node,lymphoid_neoplasm,0,1	SOCS1	84	1	5	Deletion - Frameshift(2)|Substitution - Nonsense(1)|Whole gene deletion(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)	c.C240T						PASS	.						3	4	4					16																	11349096		1833	3774	5607	SO:0001819	synonymous_variant	8651	exon2			CCCCCAGTAGAAT	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.240C>T	16.37:g.11349096G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	25	8	0.32	NM_003745	O15097|Q9NSA7	Silent	SNP	ENST00000332029.2	37	CCDS10546.1																																																																																			.	.	none		0.726	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11349096	G	A	11349096	2	1	7	1	0	0	0	0	0	0	0	1	14913	1024	36	2		2	SOCS1	16	11349096	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	124	11349096	79005657	142	1471										
GP2	2813	hgsc.bcm.edu	37	chr16	20322559	20322559	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gagctctcagaacagccaagCcaggaggacagtcaggagga	14	10	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:20322559C>G	ENST00000381362.4	-	12	1676	c.1600G>C	c.(1600-1602)Gct>Cct	p.A534P	GP2_ENST00000381360.5_Missense_Mutation_p.A387P|GP2_ENST00000341642.5_Missense_Mutation_p.A384P|GP2_ENST00000302555.5_Missense_Mutation_p.A531P	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	534					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AACAGCCAAGCCAGGAGGACA	0.522																																					p.A534P		Atlas-SNP	.											GP2,colon,carcinoma,+1,1	GP2	122	1	0			c.G1600C						PASS	.						130	125	127					16																	20322559		2203	4300	6503	SO:0001583	missense	2813	exon12			GCCAAGCCAGGAG	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1600G>C	16.37:g.20322559C>G	ENSP00000370767:p.Ala534Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	126	69	0.547619	NM_001007240	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071751	0.55646	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.91577	-2.87;-2.87;-1.65;-1.65	5.1	4.13	0.48395	.	.	.	.	.	D	0.92731	0.7689	L	0.59436	1.845	0.38652	D	0.951875	D;D;D;D	0.76494	0.996;0.999;0.999;0.998	D;D;D;P	0.66196	0.931;0.942;0.931;0.852	D	0.93047	0.6462	9	0.72032	D	0.01	-3.3065	10.0547	0.42237	0.0:0.9013:0.0:0.0987	.	384;512;531;534	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	P	531;534;387;384;512	ENSP00000304044:A531P;ENSP00000370767:A534P;ENSP00000370765:A387P;ENSP00000343861:A384P	ENSP00000304044:A531P	A	-	1	0	GP2	20230060	0.404000	0.25328	1.000000	0.80357	0.423000	0.31445	0.381000	0.20619	2.506000	0.84524	0.650000	0.86243	GCT	.	.	none		0.522	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		G	20322559	C	G	20322559	3	3	7	1	0	0	0	0	1	0	0	0	6582	739	26	4	17	4	GP2	16	20322559	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	8973463	20322559	70032194	143	1472										
TBC1D10B	26000	hgsc.bcm.edu	37	chr16	30380609	30380609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgtccgtcttgcgcagggccAgcccgtttatctctgaatct	10	13	3	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:30380609A>T	ENST00000409939.3	-	1	976	c.896T>A	c.(895-897)cTg>cAg	p.L299Q		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	299					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCGCAGGGCCAGCCCGTTTAT	0.607																																					p.L299Q		Atlas-SNP	.											.	TBC1D10B	32	.	0			c.T896A						PASS	.						42	29	33					16																	30380609		2196	4298	6494	SO:0001583	missense	26000	exon1			AGGGCCAGCCCGT	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.896T>A	16.37:g.30380609A>T	ENSP00000386538:p.Leu299Gln	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	58	18	0.310345	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007124	0.54361	.	.	ENSG00000169221	ENST00000409939	T	0.18960	2.18	4.1	4.1	0.47936	.	0.336532	0.23552	N	0.046944	T	0.17959	0.0431	L	0.43152	1.355	0.33877	D	0.635636	P	0.37731	0.607	B	0.34180	0.177	T	0.30937	-0.9961	10	0.46703	T	0.11	.	12.2043	0.54342	1.0:0.0:0.0:0.0	.	299	Q4KMP7	TB10B_HUMAN	Q	299	ENSP00000386538:L299Q	ENSP00000386538:L299Q	L	-	2	0	TBC1D10B	30288110	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.205000	0.51090	1.730000	0.51580	0.459000	0.35465	CTG	.	.	none		0.607	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		T	30380609	A	T	30380609	3	4	7	1	0	0	0	0	1	0	0	0	15596	188	7	5	1566	5	TBC1D10B	16	30380609	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	10058050	30380609	59974144	144	1473										
ZNF688	146542	hgsc.bcm.edu	37	chr16	30583567	30583567	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggtcctgaagcctctgttgaCagactggagcgcagcggaga	15	10	1	4			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:30583567C>A	ENST00000223459.6	-	0	488				ZNF688_ENST00000395219.1_Silent_p.L10L|ZNF688_ENST00000567855.1_5'Flank|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000563707.1_5'Flank|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCTCTGTTGACAGACTGGAGC	0.637																																					p.L10L		Atlas-SNP	.											.	ZNF688	37	.	0			c.G30T						PASS	.						34	39	37					16																	30583567		1926	4119	6045	SO:0001623	5_prime_UTR_variant	146542	exon1			TGTTGACAGACTG	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.-617G>T	16.37:g.30583567C>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	45	29	0.644444	NM_001024683	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	CCDS10684.1																																																																																			.	.	none		0.637	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		A	30583567	C	A	30583567	1	1	7	0	1	0	0	0	0	0	0	0	18090	465	17	4		4	ZNF688	16	30583567	5'UTR	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	202958	30583567	59771186	145	1474										
SALL1	6299	hgsc.bcm.edu	37	chr16	51175886	51175886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggggctgggggagaaggtttCgggtggggaggctggatttt	23	3	0	1	rs376234367		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:51175886C>T	ENST00000251020.4	-	2	280	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	83					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E83K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGAAGGTTTCGGGTGGGGAG	0.423																																					p.E83K	GBM(103;1352 1446 1855 4775 8890)	Atlas-SNP	.											SALL1,face,carcinoma,0,2	SALL1	301	2	1	Substitution - Missense(1)	skin(1)	c.G247A						scavenged	.						78	87	84					16																	51175886		2198	4300	6498	SO:0001583	missense	6299	exon2			AGGTTTCGGGTGG	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.247G>A	16.37:g.51175886C>T	ENSP00000251020:p.Glu83Lys	Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	170	95	0.558824	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153321	0.38021	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.08807	3.05	5.26	4.06	0.47325	.	0.301502	0.41396	N	0.000890	T	0.10637	0.0260	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05037	-1.0910	10	0.33940	T	0.23	.	11.2473	0.49004	0.0:0.8862:0.0:0.1138	.	83	Q9NSC2	SALL1_HUMAN	K	83	ENSP00000251020:E83K	ENSP00000251020:E83K	E	-	1	0	SALL1	49733387	1.000000	0.71417	0.253000	0.24343	0.946000	0.59487	6.065000	0.71176	0.867000	0.35654	0.555000	0.69702	GAA	.	.	weak		0.423	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51175886	C	T	51175886	3	4	7	1	0	0	0	0	1	0	0	0	13810	893	31	1	3735	1	SALL1	16	51175886	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	20592319	51175886	39178867	146	1475										
CHD9	80205	hgsc.bcm.edu	37	chr16	53256588	53256591	+	Frame_Shift_Del	DEL	AAAG	AAAG	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tacattgggtaagaaacaaaAaagaaagaatgagtcttcag					rs538376255	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:53256588_53256591delAAAG	ENST00000398510.3	+	3	1904_1907	c.1817_1820delAAAG	c.(1816-1821)aaaagafs	p.KR606fs	CHD9_ENST00000566029.1_Frame_Shift_Del_p.KR606fs|CHD9_ENST00000447540.1_Frame_Shift_Del_p.KR606fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.KR606fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	606	Lys-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)				AAGAAACAAAAAAGAAAGAATGAG	0.284																																					p.606_607del		Atlas-Indel	.											.	CHD9	203	.	0			c.1816_1819del						PASS	.																																			SO:0001589	frameshift_variant	80205	exon4			.	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.1817_1820delAAAG	16.37:g.53256592_53256595delAAAG	ENSP00000381522:p.Lys606fs	Somatic	366	0	0		WXS	Illumina HiSeq	Phase_I	587	166	0.282794	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	ENST00000398510.3	37																																																																																				.	.	none		0.284	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		-	53256591	AAAG	-	53256588	7	5	7	1	0	1	0	1	0	0	0	0	3332	14	1	0	1827	0	CHD9	16	53256588	Frame_Shift_Del	DEL	AAAG	TCGA-FA-A7Q1-01A-11D-A382-10	2080702	53256588	37098165	147	1476										
CDH11	1009	hgsc.bcm.edu	37	chr16	65016083	65016083	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggggctcatcagcatcttctActgagatcttgacggtcaca	10	11	6	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:65016083A>G	ENST00000268603.4	-	8	1736	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CDH11_ENST00000566827.1_Missense_Mutation_p.V248A|CDH11_ENST00000394156.3_Missense_Mutation_p.V374A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	374	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCATCTTCTACTGAGATCTT	0.522			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.V374A		Atlas-SNP	.		Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	CDH11,colon,carcinoma,0,1	CDH11	260	1	0			c.T1121C						scavenged	.						168	138	148					16																	65016083		2203	4300	6503	SO:0001583	missense	1009	exon8			TCTTCTACTGAGA	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1121T>C	16.37:g.65016083A>G	ENSP00000268603:p.Val374Ala	Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	240	82	0.341667	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775754	0.70107	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.68181	-0.31;-0.31	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.053752	0.85682	D	0.000000	D	0.88217	0.6377	H	0.97564	4.03	0.58432	D	0.999999	D;D	0.61080	0.989;0.988	P;D	0.76071	0.826;0.987	D	0.92067	0.5661	10	0.72032	D	0.01	.	15.544	0.76081	1.0:0.0:0.0:0.0	.	374;374	P55287-2;P55287	.;CAD11_HUMAN	A	374;374;357	ENSP00000268603:V374A;ENSP00000377711:V374A	ENSP00000268603:V374A	V	-	2	0	CDH11	63573584	1.000000	0.71417	0.141000	0.22245	0.251000	0.25915	8.818000	0.91991	2.324000	0.78689	0.533000	0.62120	GTA	.	.	none		0.522	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		G	65016083	A	G	65016083	3	3	7	1	0	0	0	0	1	0	0	0	3097	391	14	2	1293	2	CDH11	16	65016083	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	11759495	65016083	25338670	148	1477										
COG4	197258	hgsc.bcm.edu	37	chr16	70515315	70515315	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gagccgggcaaacttgtctcGgatggtccaggtggtcaccg	15	11	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:70515315G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Nonsense_Mutation_p.R728*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AACTTGTCTCGGATGGTCCAG	0.607																																					p.R728X		Atlas-SNP	.											.	COG4	64	.	0			c.C2182T						PASS	.						100	97	98					16																	70515315		2198	4300	6498	SO:0001628	intergenic_variant	25839	exon18			TGTCTCGGATGGT		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515315G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	61	16	0.262295	NM_015386	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Nonsense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237469	0.79800	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	.	.	.	5.97	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3333	14.2419	0.65963	0.0:0.0:0.6083:0.3917	.	.	.	.	X	728;703;184;386	.	ENSP00000315775:R728X	R	-	1	2	COG4	69072816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.403000	0.52615	0.827000	0.34685	0.655000	0.94253	CGA	.	.	none		0.607	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		A	70515315	G	A	70515315	1	1	7	0	1	0	0	0	0	0	0	0	3660	1124	39	1		1	COG4	16	70515315	IGR	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	5499232	70515315	19839438	149	1478										
BANP	54971	hgsc.bcm.edu	37	chr16	88039849	88039849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agcatcgggagcaacgtcacGctcatcaccctgaactcgga	10	14	3	1	rs372273341		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr16:88039849G>A	ENST00000393207.1	+	6	830	c.609G>A	c.(607-609)acG>acA	p.T203T	BANP_ENST00000479780.2_Silent_p.T172T|BANP_ENST00000286122.7_Silent_p.T203T|BANP_ENST00000538234.1_Silent_p.T211T|BANP_ENST00000355163.5_Silent_p.T178T|BANP_ENST00000355022.4_Silent_p.T172T|BANP_ENST00000393208.2_Silent_p.T172T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	203	Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCAACGTCACGCTCATCACCC	0.582																																					p.T211T		Atlas-SNP	.											.	BANP	67	.	0			c.G633A						PASS	.	G	,,,,,,	1,4395	2.1+/-5.4	0,1,2197	74	75	75		633,534,516,633,609,516,516	-4	1	16		75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	,,,,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	211/506,178/498,172/467,211/509,203/520,172/470,172/492	88039849	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	54971	exon6			CGTCACGCTCATC	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.609G>A	16.37:g.88039849G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	78	48	0.615385	NM_001173542	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																			.	.	weak		0.582	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		A	88039849	G	A	88039849	2	1	7	1	0	0	0	0	0	0	0	1	1310	1074	38	1		1	BANP	16	88039849	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	17524534	88039849	2314904	150	1479										
RTN4RL1	146760	hgsc.bcm.edu	37	chr17	1840012	1840012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggggcctgtttcccggcgccCgccttagagatctgattgcg	14	13	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:1840012C>T	ENST00000331238.6	-	2	1583	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCCGGCGCCCGCCTTAGAGA	0.652																																					p.A368A	GBM(68;949 1139 14865 32798 38342)	Atlas-SNP	.											.	RTN4RL1	21	.	0			c.G1104A						PASS	.						27	32	30					17																	1840012		1892	4096	5988	SO:0001819	synonymous_variant	146760	exon2			GGCGCCCGCCTTA	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1104G>A	17.37:g.1840012C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	226	66	0.292035	NM_178568		Silent	SNP	ENST00000331238.6	37	CCDS45569.1																																																																																			.	.	none		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		T	1840012	C	T	1840012	2	4	7	1	0	0	0	0	0	0	0	1	13731	639	23	1		1	RTN4RL1	17	1840012	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		1840012	79355198	151	1480										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11520880	11520880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gggccacatgcaagtcctacCgctccccgggaaggctgact	12	15	0	1	rs377415601		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:11520880C>T	ENST00000262442.4	+	5	1125	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R353C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	353	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTCCTACCGCTCCCCGGG	0.622																																					p.R353C		Atlas-SNP	.											.	DNAH9	695	.	0			c.C1057T						PASS	.						67	65	65					17																	11520880		2203	4300	6503	SO:0001583	missense	1770	exon5			TCCTACCGCTCCC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1057C>T	17.37:g.11520880C>T	ENSP00000262442:p.Arg353Cys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	92	54	0.586957	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978052	0.34942	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55413	0.52;0.52	5.91	2.42	0.29668	Dynein heavy chain, domain-1 (1);	0.416033	0.26010	N	0.026889	T	0.24699	0.0599	N	0.04018	-0.295	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.03524	-1.1028	10	0.34782	T	0.22	.	5.084	0.14673	0.2294:0.5222:0.0:0.2484	.	353	Q9NYC9	DYH9_HUMAN	C	353	ENSP00000262442:R353C;ENSP00000414874:R353C	ENSP00000262442:R353C	R	+	1	0	DNAH9	11461605	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.847000	0.39299	0.839000	0.34971	0.655000	0.94253	CGC	.	.	alt		0.622	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11520880	C	T	11520880	3	4	7	1	0	0	0	0	1	0	0	0	4608	652	23	1	1075	1	DNAH9	17	11520880	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	9680868	11520880	69674330	152	1481										
RHOT1	55288	hgsc.bcm.edu	37	chr17	30551748	30551748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	caaagcattattgaaacagcGatgatataaaaagaaatact	6	5	0	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:30551748G>A	ENST00000333942.6	+	19	2092	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	RHOT1_ENST00000394692.2_Missense_Mutation_p.R650Q|RHOT1_ENST00000583994.1_Missense_Mutation_p.R523Q|RHOT1_ENST00000354266.3_Missense_Mutation_p.R597Q|RHOT1_ENST00000545287.2_Missense_Mutation_p.R659Q|RHOT1_ENST00000358365.3_Missense_Mutation_p.R691Q	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	618					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTGAAACAGCGATGATATAAA	0.353																																					p.R691Q		Atlas-SNP	.											RHOT1,NS,lymphoid_neoplasm,+1,1	RHOT1	69	1	0			c.G2072A						PASS	.						129	118	122					17																	30551748		2203	4300	6503	SO:0001583	missense	55288	exon21			AACAGCGATGATA	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1853G>A	17.37:g.30551748G>A	ENSP00000334724:p.Arg618Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	96	50	0.520833	NM_001033568	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610185	0.46527	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.78126	-1.15;-1.1;-0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	L	0.44542	1.39	0.80722	D	1	P;P;D	0.76494	0.895;0.809;0.999	B;B;D	0.77557	0.358;0.082;0.99	T	0.83297	-0.0030	10	0.44086	T	0.13	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	650;618;691	Q8IXI2-2;Q8IXI2;Q8IXI2-3	.;MIRO1_HUMAN;.	Q	691;659;650;618	ENSP00000351132:R691Q;ENSP00000378184:R650Q;ENSP00000334724:R618Q	ENSP00000334724:R618Q	R	+	2	0	RHOT1	27575861	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	CGA	.	.	none		0.353	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		A	30551748	G	A	30551748	3	1	7	1	0	0	0	0	1	0	0	0	13343	1058	37	1	2154	1	RHOT1	17	30551748	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	19030868	30551748	50643462	153	1482										
MLLT6	4302	hgsc.bcm.edu	37	chr17	36865739	36865739	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgccttctctggttagtgccCaaatggcaggcttgctgtgt	12	10	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:36865739C>T	ENST00000325718.7	+	6	554	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	MLLT6_ENST00000378137.5_Nonsense_Mutation_p.Q155*	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGTTAGTGCCCAAATGGCAGG	0.572			T	MLL	AL																																p.Q155X		Atlas-SNP	.		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	.	MLLT6	80	.	0			c.C463T						PASS	.						110	85	94					17																	36865739		2203	4300	6503	SO:0001587	stop_gained	4302	exon6			AGTGCCCAAATGG		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.463C>T	17.37:g.36865739C>T	ENSP00000316426:p.Gln155*	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	78	22	0.282051	NM_005937	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Nonsense_Mutation	SNP	ENST00000325718.7	37	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	37	6.433454	0.97564	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.9677	0.79987	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000316426:Q155X	Q	+	1	0	MLLT6	34119265	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.347000	0.79356	2.404000	0.81709	0.591000	0.81541	CAA	.	.	none		0.572	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		T	36865739	C	T	36865739	4	4	7	1	0	0	0	0	0	1	0	0	9630	595	21	2	485	2	MLLT6	17	36865739	Nonsense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	6313991	36865739	44329471	154	1483										
IKZF3	22806	hgsc.bcm.edu	37	chr17	37944556	37944556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aagaaatgtacggcagcgctCcttgtgctcctcaagggaac	11	11	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:37944556C>T	ENST00000346872.3	-	6	725	c.664G>A	c.(664-666)Gag>Aag	p.E222K	IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.E222K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E188K|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.E166K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E79K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E135K|IKZF3_ENST00000394189.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	222					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCAGCGCTCCTTGTGCTCC	0.498																																					p.E222K		Atlas-SNP	.											.	IKZF3	79	.	0			c.G664A						PASS	.						146	114	125					17																	37944556		2203	4300	6503	SO:0001583	missense	22806	exon6			AGCGCTCCTTGTG	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.664G>A	17.37:g.37944556C>T	ENSP00000344544:p.Glu222Lys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	145	88	0.606897	NM_012481	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	37	6.027248	0.97216	.	.	ENSG00000161405	ENST00000488188;ENST00000377944;ENST00000377958;ENST00000535189;ENST00000350532;ENST00000467757	T;T;T;T;T	0.44482	0.92;3.65;3.65;3.43;4.18	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000039	T	0.67933	0.2946	M	0.83012	2.62	0.80722	D	1	D;P;D;D;D;D	0.76494	0.972;0.669;0.998;0.979;0.999;0.997	P;B;D;P;D;D	0.76071	0.737;0.205;0.967;0.907;0.987;0.938	T	0.61667	-0.7016	10	0.20046	T	0.44	-17.2071	20.1899	0.98228	0.0:1.0:0.0:0.0	.	135;79;188;222;166;222	Q9UKT9-9;Q9UKT9-10;Q9UKT9-7;Q9UKT9-4;Q9UKT9-2;Q9UKT9	.;.;.;.;.;IKZF3_HUMAN	K	222;79;135;188;222;166	ENSP00000367179:E79K;ENSP00000367194:E135K;ENSP00000438972:E188K;ENSP00000344471:E222K;ENSP00000420463:E166K	ENSP00000344471:E222K	E	-	1	0	IKZF3	35198082	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GAG	.	.	none		0.498	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		T	37944556	C	T	37944556	3	4	7	1	0	0	0	0	1	0	0	0	7616	864	30	2	877	2	IKZF3	17	37944556	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	1078817	37944556	43250654	155	1484										
KRT33A	3883	hgsc.bcm.edu	37	chr17	39502849	39502849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gactccacgttggtgatcagTctctgcacctgggacagctg	12	12	2	1	rs149308293	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:39502849T>G	ENST00000007735.3	-	6	992	c.948A>C	c.(946-948)agA>agC	p.R316S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	316	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGTGATCAGTCTCTGCACCT	0.622													T|||	8	0.00159744	0.0	0.0014	5008	,	,		17084	0.0069		0.0	False		,,,				2504	0.0				p.R316S		Atlas-SNP	.											.	KRT33A	53	.	0			c.A948C						PASS	.						72	69	70					17																	39502849		2203	4300	6503	SO:0001583	missense	3883	exon6			GATCAGTCTCTGC	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.948A>C	17.37:g.39502849T>G	ENSP00000007735:p.Arg316Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	132	30	0.227273	NM_004138	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	CCDS11388.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	0.240	-1.014576	0.02095	.	.	ENSG00000006059	ENST00000007735	D	0.88354	-2.37	4.54	0.231	0.15377	Filament (1);	0.604547	0.17674	N	0.165846	T	0.60196	0.2250	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52675	-0.8544	10	0.10902	T	0.67	.	3.027	0.06094	0.1487:0.1188:0.4864:0.2461	.	316	O76009	KT33A_HUMAN	S	316	ENSP00000007735:R316S	ENSP00000007735:R316S	R	-	3	2	KRT33A	36756375	0.000000	0.05858	0.038000	0.18304	0.098000	0.18820	0.024000	0.13555	0.228000	0.21019	-0.148000	0.13756	AGA	T|0.999;G|0.001	0.001	strong		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		G	39502849	T	G	39502849	3	3	7	1	0	0	0	0	1	0	0	0	8469	1664	58	5	274	5	KRT33A	17	39502849	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	1558293	39502849	41692361	156	1485										
TBX4	9496	hgsc.bcm.edu	37	chr17	59560607	59560607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accatgatgccgcggctgccCaccctctccgctcagagctc	9	19	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:59560607C>T	ENST00000240335.1	+	8	1413	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Silent_p.P457P	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	456					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGCGGCTGCCCACCCTCTCCG	0.632																																					p.P456P		Atlas-SNP	.											.	TBX4	69	.	0			c.C1368T						PASS	.						81	76	78					17																	59560607		2203	4300	6503	SO:0001819	synonymous_variant	9496	exon8			GCTGCCCACCCTC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1368C>T	17.37:g.59560607C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	75	25	0.333333	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	CCDS11629.1																																																																																			.	.	none		0.632	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		T	59560607	C	T	59560607	2	4	7	1	0	0	0	0	0	0	0	1	15657	581	21	2		2	TBX4	17	59560607	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	20057758	59560607	21634603	157	1486										
SGSH	6448	hgsc.bcm.edu	37	chr17	78184539	78184539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cggttcaggaggtcctggaaGgtgggtgagacgtagaagtc	18	6	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr17:78184539G>A	ENST00000326317.6	-	8	1307	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	SGSH_ENST00000534910.1_Silent_p.T204T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	407					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTCCTGGAAGGTGGGTGAGA	0.617																																					p.T407T		Atlas-SNP	.											.	SGSH	27	.	0			c.C1221T						PASS	.						181	164	170					17																	78184539		2203	4300	6503	SO:0001819	synonymous_variant	6448	exon8			CTGGAAGGTGGGT	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1221C>T	17.37:g.78184539G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	147	85	0.578231	NM_000199	A8K5E2	Silent	SNP	ENST00000326317.6	37	CCDS11770.1																																																																																			.	.	none		0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		A	78184539	G	A	78184539	2	1	7	1	0	0	0	0	0	0	0	1	14221	987	35	2		2	SGSH	17	78184539	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	18623932	78184539	3010671	158	1487										
KLHL14	57565	hgsc.bcm.edu	37	chr18	30350456	30350456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgggccgtcagggtcacgtcGcaaaacagctgcttcctcca	11	14	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr18:30350456G>C	ENST00000359358.4	-	2	537	c.99C>G	c.(97-99)tgC>tgG	p.C33W	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.C33W	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGTCACGTCGCAAAACAGCT	0.642																																					p.C33W		Atlas-SNP	.											.	KLHL14	92	.	0			c.C99G						PASS	.						73	52	59					18																	30350456		2203	4300	6503	SO:0001583	missense	57565	exon2			CACGTCGCAAAAC	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.99C>G	18.37:g.30350456G>C	ENSP00000352314:p.Cys33Trp	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	53	18	0.339623	NM_020805	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	5.357	0.251139	0.10130	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.72167	-0.63;-0.63	4.29	4.29	0.51040	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.233665	0.46442	D	0.000298	T	0.81851	0.4910	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83402	0.0023	10	0.87932	D	0	.	9.3029	0.37856	0.1005:0.0:0.8995:0.0	.	33	Q9P2G3	KLH14_HUMAN	W	33	ENSP00000352314:C33W;ENSP00000350808:C33W	ENSP00000350808:C33W	C	-	3	2	KLHL14	28604454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.623000	0.54224	2.223000	0.72356	0.460000	0.39030	TGC	.	.	none		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			C	30350456	G	C	30350456	3	2	7	1	0	0	0	0	1	0	0	0	8370	1079	38	4	1819	4	KLHL14	18	30350456	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		30350456	47726792	159	1488										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1014261	1014261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	catcttccatgtccaggttgCtgcctggttccacggccagg	11	14	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:1014261C>T	ENST00000356663.3	-	2	558	c.437G>A	c.(436-438)aGc>aAc	p.S146N	TMEM259_ENST00000333175.5_Missense_Mutation_p.S146N	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	146						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GTCCAGGTTGCTGCCTGGTTC	0.637																																					p.S146N		Atlas-SNP	.											C19orf6,NS,carcinoma,+1,1	.	.	1	0			c.G437A						scavenged	.						66	61	63					19																	1014261		2202	4300	6502	SO:0001583	missense	91304	exon2			AGGTTGCTGCCTG	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.437G>A	19.37:g.1014261C>T	ENSP00000349087:p.Ser146Asn	Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	79	10	0.126582	NM_033420	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	6.114	0.389285	0.11581	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	1.86	0.25419	.	0.774128	0.11482	N	0.559656	T	0.28732	0.0712	L	0.38175	1.15	0.09310	N	1	B;B	0.25105	0.118;0.002	B;B	0.26517	0.07;0.001	T	0.19943	-1.0290	9	0.29301	T	0.29	-5.843	4.2325	0.10610	0.0:0.5855:0.1928:0.2218	.	146;146	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	N	146	.	ENSP00000331423:S146N	S	-	2	0	C19orf6	965261	0.002000	0.14202	0.006000	0.13384	0.060000	0.15804	0.209000	0.17435	0.930000	0.37217	0.462000	0.41574	AGC	.	.	none		0.637	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		T	1014261	C	T	1014261	3	4	7	1	0	0	0	0	1	0	0	0	1941	797	28	2	1465	2	C19orf6	19	1014261	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		1014261	58114722	160	1489										
S1PR2	9294	hgsc.bcm.edu	37	chr19	10335123	10335123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agcgagatgagccacgaggcCccgatgagcagaagcatgcg	15	11	0	4			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:10335123C>T	ENST00000590320.1	-	2	569	c.459G>A	c.(457-459)ggG>ggA	p.G153G	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	153					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCACGAGGCCCCGATGAGCA	0.637																																					p.G153G	Pancreas(194;229 3020 15179 45747)	Atlas-SNP	.											.	S1PR2	36	.	0			c.G459A						PASS	.						61	57	58					19																	10335123		2203	4300	6503	SO:0001819	synonymous_variant	9294	exon2			CGAGGCCCCGATG	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.459G>A	19.37:g.10335123C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	33	26	0.787879	NM_004230	Q86UN8	Silent	SNP	ENST00000590320.1	37	CCDS12229.1																																																																																			.	.	none		0.637	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		T	10335123	C	T	10335123	2	4	7	1	0	0	0	0	0	0	0	1	13794	610	22	2		2	S1PR2	19	10335123	Silent	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	9320862	10335123	48793860	161	1490										
DOCK6	57572	hgsc.bcm.edu	37	chr19	11363469	11363469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ctgaacccactcatccttggGgatcccgggctccgtggtcc	11	16	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:11363469G>A	ENST00000294618.7	-	3	309	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	100					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCATCCTTGGGGATCCCGGGC	0.642																																					p.P100S		Atlas-SNP	.											.	DOCK6	104	.	0			c.C298T						PASS	.						23	26	25					19																	11363469		1960	4143	6103	SO:0001583	missense	57572	exon3			CCTTGGGGATCCC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.298C>T	19.37:g.11363469G>A	ENSP00000294618:p.Pro100Ser	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_020812	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735441	0.69189	.	.	ENSG00000130158	ENST00000294618	T	0.79454	-1.27	4.59	4.59	0.56863	.	0.074083	0.56097	D	0.000034	D	0.88470	0.6445	M	0.85630	2.765	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.90811	0.4701	10	0.87932	D	0	-22.0449	16.174	0.81840	0.0:0.0:1.0:0.0	.	100	Q96HP0	DOCK6_HUMAN	S	100	ENSP00000294618:P100S	ENSP00000294618:P100S	P	-	1	0	DOCK6	11224469	1.000000	0.71417	0.743000	0.31040	0.394000	0.30568	8.562000	0.90719	2.100000	0.63781	0.561000	0.74099	CCC	.	.	none		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11363469	G	A	11363469	3	1	7	1	0	0	0	0	1	0	0	0	4691	1232	43	2	6029	2	DOCK6	19	11363469	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	1028346	11363469	47765514	162	1491										
CYP4F3	4051	hgsc.bcm.edu	37	chr19	15760884	15760884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gcacgacttcacagatgccgTcatccaggagcggcgccgca	12	15	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:15760884T>C	ENST00000221307.8	+	7	856	c.809T>C	c.(808-810)gTc>gCc	p.V270A	CYP4F3_ENST00000591058.1_Missense_Mutation_p.V270A|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V270A|CYP4F3_ENST00000585846.1_Missense_Mutation_p.V270A	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	270			V -> I (in dbSNP:rs28371536). {ECO:0000269|Ref.5}.		arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACAGATGCCGTCATCCAGGAG	0.567																																					p.V270A		Atlas-SNP	.											.	CYP4F3	69	.	0			c.T809C						PASS	.						110	101	104					19																	15760884		2203	4300	6503	SO:0001583	missense	4051	exon7			ATGCCGTCATCCA	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.809T>C	19.37:g.15760884T>C	ENSP00000221307:p.Val270Ala	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	100	34	0.34	NM_001199209	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059024	0.36373	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69561	-0.41	3.99	2.93	0.34026	.	0.182612	0.34802	N	0.003680	T	0.73297	0.3569	M	0.83603	2.65	0.42809	D	0.993958	B;B	0.20780	0.027;0.048	B;B	0.41202	0.35;0.35	T	0.71076	-0.4697	10	0.87932	D	0	.	6.846	0.23988	0.0:0.1253:0.0:0.8747	.	270;270	B7Z8Z3;Q08477	.;CP4F3_HUMAN	A	197;270	ENSP00000221307:V270A	ENSP00000221307:V270A	V	+	2	0	CYP4F3	15621884	1.000000	0.71417	0.697000	0.30258	0.576000	0.36127	3.349000	0.52217	0.432000	0.26286	0.260000	0.18958	GTC	.	.	none		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		C	15760884	T	C	15760884	3	2	7	1	0	0	0	0	1	0	0	0	4190	1667	58	2	831	2	CYP4F3	19	15760884	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	4397415	15760884	43368099	163	1492										
OR10H3	26532	hgsc.bcm.edu	37	chr19	15852443	15852443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcactgttgccatcacccctCgcatgctggctgatctgctc	8	16	3	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:15852443C>T	ENST00000305892.1	+	1	241	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATCACCCCTCGCATGCTGGC	0.507																																					p.R81C		Atlas-SNP	.											OR10H3,colon,carcinoma,0,2	OR10H3	53	2	0			c.C241T						scavenged	.						537	454	482					19																	15852443		2203	4300	6503	SO:0001583	missense	26532	exon1			ACCCCTCGCATGC		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.241C>T	19.37:g.15852443C>T	ENSP00000307130:p.Arg81Cys	Somatic	226	2	0.00884956		WXS	Illumina HiSeq	Phase_I	231	99	0.428571	NM_013938	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	2.565	-0.301047	0.05495	.	.	ENSG00000171936	ENST00000305892	T	0.80033	-1.33	2.35	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.823482	0.09938	U	0.736331	T	0.79358	0.4432	M	0.83603	2.65	0.09310	N	1	B	0.18968	0.032	B	0.18263	0.021	T	0.72207	-0.4360	10	0.72032	D	0.01	.	6.0982	0.20033	0.4683:0.5317:0.0:0.0	.	81	O60404	O10H3_HUMAN	C	81	ENSP00000307130:R81C	ENSP00000307130:R81C	R	+	1	0	OR10H3	15713443	0.000000	0.05858	0.416000	0.26546	0.147000	0.21601	-0.100000	0.10990	1.320000	0.45209	0.185000	0.17295	CGC	.	.	none		0.507	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			T	15852443	C	T	15852443	3	4	7	1	0	0	0	0	1	0	0	0	10907	884	31	1	243	1	OR10H3	19	15852443	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	91559	15852443	43276540	164	1493										
KLF2	10365	hgsc.bcm.edu	37	chr19	16437842	16437842	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cacatgaaacggcacatgtaGccgggacgcccccgcccacc	10	18	0	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:16437842G>C	ENST00000248071.5	+	3	1175	c.1068G>C	c.(1066-1068)taG>taC	p.*356Y	KLF2_ENST00000592003.1_3'UTR|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	0					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						GGCACATGTAGCCGGGAcgcc	0.672																																					p.X356Y		Atlas-SNP	.											.	KLF2	10	.	0			c.G1068C						PASS	.						25	18	20					19																	16437842		2198	4292	6490	SO:0001578	stop_lost	10365	exon3			CATGTAGCCGGGA	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.1068G>C	19.37:g.16437842G>C	ENSP00000248071:p.*356Tyrext*62	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_016270	Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	G	3.162	-0.171913	0.06421	.	.	ENSG00000127528	ENST00000248071	.	.	.	4.44	-0.542	0.11854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6784	0.05086	0.1736:0.1445:0.5337:0.1483	.	.	.	.	Y	356	.	.	X	+	3	2	KLF2	16298842	1.000000	0.71417	0.980000	0.43619	0.096000	0.18686	4.184000	0.58323	0.068000	0.16574	0.313000	0.20887	TAG	.	.	none		0.672	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			C	16437842	G	C	16437842	4	2	7	1	0	0	0	0	0	0	0	0	8346	966	34	4	1078	4	KLF2	19	16437842	Nonstop_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	585399	16437842	42691141	165	1494										
HAUS8	93323	hgsc.bcm.edu	37	chr19	17166719	17166719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtggatggacctcacgggcaGctcgtgcctggtagtgtcca	15	11	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:17166719G>A	ENST00000253669.5	-	9	929	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	HAUS8_ENST00000593360.1_Silent_p.L186L|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Silent_p.L246L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	247					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCACGGGCAGCTCGTGCCTG	0.632																																					p.L247L		Atlas-SNP	.											.	HAUS8	31	.	0			c.C739T						PASS	.						137	108	118					19																	17166719		2203	4300	6503	SO:0001819	synonymous_variant	93323	exon9			CGGGCAGCTCGTG	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.739C>T	19.37:g.17166719G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_033417	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Silent	SNP	ENST00000253669.5	37	CCDS32948.1																																																																																			.	.	none		0.632	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		A	17166719	G	A	17166719	2	1	7	1	0	0	0	0	0	0	0	1	6972	962	34	2		2	HAUS8	19	17166719	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	728877	17166719	41962264	166	1495										
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837421	17837421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccggcgccgagcgcacgctgGcctctgtgtgcgccctgctg	15	17	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:17837421G>A	ENST00000324096.4	+	5	1379	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A384T|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	410	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCGCACGCTGGCCTCTGTGTG	0.726																																					p.A410T		Atlas-SNP	.											MAP1S,bladder,carcinoma,-2,1	MAP1S	74	1	0			c.G1228A						PASS	.																																			SO:0001583	missense	55201	exon5			ACGCTGGCCTCTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1228G>A	19.37:g.17837421G>A	ENSP00000325313:p.Ala410Thr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	31	0.462687	NM_018174	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.121058	0.01785	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03635	3.86;3.86	3.39	3.39	0.38822	.	0.300651	0.23828	N	0.044172	T	0.01870	0.0059	N	0.16037	0.36	0.21064	N	0.999797	B;B;B	0.20671	0.047;0.047;0.026	B;B;B	0.17722	0.019;0.019;0.013	T	0.47341	-0.9125	10	0.02654	T	1	-11.0899	6.6284	0.22843	0.1361:0.0:0.8639:0.0	.	384;410;410	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	T	410;384	ENSP00000325313:A410T;ENSP00000439243:A384T	ENSP00000325313:A410T	A	+	1	0	MAP1S	17698421	0.001000	0.12720	0.085000	0.20634	0.155000	0.21991	0.751000	0.26348	1.437000	0.47472	0.561000	0.74099	GCC	.	.	none		0.726	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		A	17837421	G	A	17837421	3	1	7	1	0	0	0	0	1	0	0	0	9234	1203	42	2	1246	2	MAP1S	19	17837421	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	670702	17837421	41291562	167	1496										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363610	22363610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttgtagggtttctctccagtAtgaattctcttatgttccat	7	8	2	1	rs201622264	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGTATGAATTCTCT	0.443																																					p.H303H		Atlas-SNP	.											ZNF676,rectum,carcinoma,0,2	ZNF676	146	2	0			c.T909C						scavenged	.						81	83	83					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223	exon3			TCCAGTATGAATT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.909T>C	19.37:g.22363610A>G		Somatic	42	8	0.190476		WXS	Illumina HiSeq	Phase_I	52	7	0.134615	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			A|0.793;G|0.207	0.207	strong		0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363610	A	G	22363610	2	3	7	1	0	0	0	0	0	0	0	1	18080	446	16	2		2	ZNF676	19	22363610	Silent	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	4526189	22363610	36765373	168	1497										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22848027	22848027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgcttgtgacaacattgcaaAgatttccaaatataaaagaa	6	6	0	3			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:22848027A>G	ENST00000456783.2	+	4	1800	c.1556A>G	c.(1555-1557)aAg>aGg	p.K519R	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AACATTGCAAAGATTTCCAAA	0.323																																					p.K519R		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,-1,1	ZNF492	129	1	0			c.A1556G						scavenged	.						18	17	17					19																	22848027		1781	4030	5811	SO:0001583	missense	57615	exon4			TTGCAAAGATTTC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1556A>G	19.37:g.22848027A>G	ENSP00000413660:p.Lys519Arg	Somatic	829	1	0.00120627		WXS	Illumina HiSeq	Phase_I	761	235	0.308804	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	0.458	-0.890660	0.02491	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	1.03	1.03	0.20045	.	.	.	.	.	T	0.05181	0.0138	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45600	-0.9250	9	0.16420	T	0.52	.	5.9322	0.19144	1.0:0.0:0.0:0.0	.	519	Q9P255	ZN492_HUMAN	R	519	ENSP00000413660:K519R	ENSP00000413660:K519R	K	+	2	0	ZNF492	22639867	0.000000	0.05858	0.005000	0.12908	0.029000	0.11900	-0.388000	0.07352	0.432000	0.26286	0.128000	0.15822	AAG	.	.	none		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		G	22848027	A	G	22848027	3	3	7	1	0	0	0	0	1	0	0	0	17940	72	3	3	1566	3	ZNF492	19	22848027	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	484417	22848027	36280956	169	1498										
ZNF569	148266	hgsc.bcm.edu	37	chr19	37904751	37904751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tctcacattccttacatgcaTagggcttctctccagtatga	6	12	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:37904751T>C	ENST00000316950.6	-	6	1366	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	ZNF569_ENST00000392149.2_Missense_Mutation_p.Y270C|ZNF569_ENST00000392150.2_Missense_Mutation_p.Y111C	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACATGCATAGGGCTTCTC	0.343																																					p.Y270C		Atlas-SNP	.											.	ZNF569	101	.	0			c.A809G						PASS	.						79	84	82					19																	37904751		2203	4299	6502	SO:0001583	missense	148266	exon6			CATGCATAGGGCT	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.809A>G	19.37:g.37904751T>C	ENSP00000325018:p.Tyr270Cys	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	89	36	0.404494	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546214	0.27652	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.25414	1.8;1.8	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34268	N	0.004102	T	0.45196	0.1330	M	0.71036	2.16	0.38461	D	0.947224	B;D	0.76494	0.411;0.999	B;D	0.81914	0.169;0.995	T	0.50215	-0.8854	10	0.72032	D	0.01	.	7.815	0.29254	0.1862:0.0:0.0:0.8138	.	111;270	Q17RR6;Q5MCW4	.;ZN569_HUMAN	C	270;111	ENSP00000325018:Y270C;ENSP00000375993:Y111C	ENSP00000325018:Y270C	Y	-	2	0	ZNF569	42596591	0.000000	0.05858	0.974000	0.42286	0.615000	0.37417	-0.981000	0.03766	1.745000	0.51790	0.533000	0.62120	TAT	.	.	none		0.343	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		C	37904751	T	C	37904751	3	2	7	1	0	0	0	0	1	0	0	0	17997	1406	49	2	1255	2	ZNF569	19	37904751	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	15056724	37904751	21224232	170	1499										
GGN	199720	hgsc.bcm.edu	37	chr19	38876427	38876427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ccggggatggggccggggccTggtcggcggctaaggctggg	23	10	0	0	rs202033519		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:38876427T>G	ENST00000334928.6	-	3	1607	c.1475A>C	c.(1474-1476)cAg>cCg	p.Q492P	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	492	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ggccggggcctggtcggcggc	0.766																																					p.Q492P		Atlas-SNP	.											.	GGN	50	.	0			c.A1475C						PASS	.						3	4	4					19																	38876427		1650	3429	5079	SO:0001583	missense	199720	exon3			GGGGCCTGGTCGG	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1475A>C	19.37:g.38876427T>G	ENSP00000334940:p.Gln492Pro	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	28	9	0.321429	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458502	0.26248	.	.	ENSG00000179168	ENST00000334928	.	.	.	2.63	1.58	0.23477	.	0.000000	0.30686	N	0.009099	T	0.34308	0.0893	L	0.27053	0.805	0.09310	N	1	D;P	0.58970	0.984;0.89	P;P	0.62560	0.904;0.702	T	0.09975	-1.0650	9	0.27785	T	0.31	-0.5168	4.7402	0.13008	0.0:0.1547:0.0:0.8453	.	409;492	Q86UU5-2;Q86UU5	.;GGN_HUMAN	P	492	.	ENSP00000334940:Q492P	Q	-	2	0	GGN	43568267	0.000000	0.05858	0.006000	0.13384	0.398000	0.30690	-0.456000	0.06754	0.399000	0.25367	0.374000	0.22700	CAG	.	.	weak		0.766	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		G	38876427	T	G	38876427	3	3	7	1	0	0	0	0	1	0	0	0	6358	1580	55	5	491	5	GGN	19	38876427	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	971676	38876427	20252556	171	1500										
AKT2	208	hgsc.bcm.edu	37	chr19	40741861	40741861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggcctcggggctgagcgtgcGcgggaagcggatctcttcca	17	12	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:40741861G>A	ENST00000392038.2	-	11	1409	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	AKT2_ENST00000579047.1_Missense_Mutation_p.R309C|AKT2_ENST00000424901.1_Missense_Mutation_p.R371C|AKT2_ENST00000311278.6_Missense_Mutation_p.R328C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTGAGCGTGCGCGGGAAGCGG	0.647			A		"ovarian, pancreatic "																																p.R371C		Atlas-SNP	.		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	AKT2,NS,carcinoma,+1,1	AKT2	53	1	0			c.C1111T						PASS	.						57	54	55					19																	40741861		2203	4300	6503	SO:0001583	missense	208	exon11			GCGTGCGCGGGAA	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1111C>T	19.37:g.40741861G>A	ENSP00000375892:p.Arg371Cys	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	21	6	0.285714	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151570	0.38021	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.59083	0.29;0.29;0.29	5.77	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094359	0.64402	D	0.000001	T	0.52108	0.1714	L	0.52206	1.635	0.80722	D	1	B;B;B	0.27791	0.022;0.02;0.189	B;B;B	0.25506	0.026;0.013;0.061	T	0.52815	-0.8525	10	0.51188	T	0.08	.	13.9471	0.64091	0.0744:0.0:0.9256:0.0	.	309;328;371	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	C	371;272;371;328;191	ENSP00000375892:R371C;ENSP00000399532:R371C;ENSP00000309428:R328C	ENSP00000309428:R328C	R	-	1	0	AKT2	45433701	1.000000	0.71417	0.900000	0.35374	0.907000	0.53573	3.635000	0.54309	1.449000	0.47699	0.555000	0.69702	CGC	.	.	none		0.647	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		A	40741861	G	A	40741861	3	1	7	1	0	0	0	0	1	0	0	0	480	1087	38	1	350	1	AKT2	19	40741861	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	1865434	40741861	18387122	172	1501										
SPTBN4	57731	hgsc.bcm.edu	37	chr19	41073666	41073666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggaactggcggccaaggcggCgcccctgctgcggccagggg	19	14	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:41073666C>T	ENST00000352632.3	+	31	6520	c.6434C>T	c.(6433-6435)gCg>gTg	p.A2145V	SPTBN4_ENST00000392025.1_Missense_Mutation_p.A888V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2145V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2145					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAAGGCGGCGCCCCTGCTG	0.677																																					p.A2145V		Atlas-SNP	.											.	SPTBN4	213	.	0			c.C6434T						PASS	.						5	5	5					19																	41073666		2073	4105	6178	SO:0001583	missense	57731	exon31			AGGCGGCGCCCCT	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6434C>T	19.37:g.41073666C>T	ENSP00000263373:p.Ala2145Val	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	35	13	0.371429	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481397	0.84747	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.77750	-1.12;0.11	4.91	4.91	0.64330	.	0.161948	0.28671	U	0.014532	T	0.66287	0.2774	N	0.08118	0	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.47626	0.552;0.552	T	0.69573	-0.5109	10	0.32370	T	0.25	.	16.874	0.86046	0.0:1.0:0.0:0.0	.	888;2145	C9JY79;Q9H254	.;SPTN4_HUMAN	V	2145;2145;888	ENSP00000263373:A2145V;ENSP00000375879:A888V	ENSP00000263373:A2145V	A	+	2	0	SPTBN4	45765506	0.281000	0.24258	0.995000	0.50966	0.952000	0.60782	2.449000	0.44935	2.252000	0.74401	0.561000	0.74099	GCG	.	.	none		0.677	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41073666	C	T	41073666	3	4	7	1	0	0	0	0	1	0	0	0	15120	768	27	1	6646	1	SPTBN4	19	41073666	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	331805	41073666	18055317	173	1502										
SYMPK	8189	hgsc.bcm.edu	37	chr19	46347378	46347378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggagcccagcgctgtggtcaGgttgatggaggagatggcag	19	7	1	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:46347378G>C	ENST00000245934.7	-	8	1001	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	253					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)		GCTGTGGTCAGGTTGATGGAG	0.547																																					p.L253V		Atlas-SNP	.											.	SYMPK	104	.	0			c.C757G						PASS	.						173	133	147					19																	46347378		2203	4300	6503	SO:0001583	missense	8189	exon8			TGGTCAGGTTGAT	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.757C>G	19.37:g.46347378G>C	ENSP00000245934:p.Leu253Val	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	88	28	0.318182	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876042	0.91664	.	.	ENSG00000125755	ENST00000245934	T	0.33216	1.42	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.984	T	0.55679	-0.8103	10	0.87932	D	0	.	17.952	0.89056	0.0:0.0:1.0:0.0	.	268;253	Q4LE61;Q92797	.;SYMPK_HUMAN	V	253	ENSP00000245934:L253V	ENSP00000245934:L253V	L	-	1	2	SYMPK	51039218	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.941000	0.92964	2.835000	0.97688	0.650000	0.86243	CTG	.	.	none		0.547	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		C	46347378	G	C	46347378	3	2	7	1	0	0	0	0	1	0	0	0	15436	991	35	4	3147	4	SYMPK	19	46347378	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	5273712	46347378	12781605	174	1503										
IL4I1	259307	hgsc.bcm.edu	37	chr19	50397663	50397663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tgcacctccgtccacgtgttCttgtcgtactgggtgaactt	10	12	1	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:50397663C>G	ENST00000391826.2	-	5	571	c.429G>C	c.(427-429)aaG>aaC	p.K143N	IL4I1_ENST00000341114.3_Missense_Mutation_p.K165N|IL4I1_ENST00000595948.1_Missense_Mutation_p.K165N	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	143						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TCCACGTGTTCTTGTCGTACT	0.617																																					p.K165N		Atlas-SNP	.											.	IL4I1	50	.	0			c.G495C						PASS	.						116	113	114					19																	50397663		2203	4300	6503	SO:0001583	missense	259307	exon7			CGTGTTCTTGTCG	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.429G>C	19.37:g.50397663C>G	ENSP00000375702:p.Lys143Asn	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	101	41	0.405941	NM_172374	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	C	2.739	-0.262761	0.05754	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.92299	-3.01;-3.01	5.24	2.95	0.34219	Amine oxidase (1);	0.996710	0.08139	N	0.991977	T	0.79656	0.4483	N	0.02247	-0.625	0.19775	N	0.999956	P;P;B	0.38677	0.589;0.642;0.006	B;B;B	0.33121	0.098;0.158;0.01	T	0.67484	-0.5659	10	0.22109	T	0.4	-29.9311	13.0756	0.59085	0.0:0.6914:0.3086:0.0	.	165;165;143	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	N	165;143	ENSP00000342557:K165N;ENSP00000375702:K143N	ENSP00000342557:K165N	K	-	3	2	IL4I1	55089475	0.998000	0.40836	0.995000	0.50966	0.056000	0.15407	1.642000	0.37207	1.206000	0.43276	0.491000	0.48974	AAG	.	.	none		0.617	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			G	50397663	C	G	50397663	3	3	7	1	0	0	0	0	1	0	0	0	7697	912	32	4	1290	4	IL4I1	19	50397663	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	4050285	50397663	8731320	175	1504										
MYH14	79784	hgsc.bcm.edu	37	chr19	50779294	50779294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cccagctgctgaaatccctgCgggaggctcaagcagccctg	12	15	1	1	rs373919106		TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:50779294C>T	ENST00000596571.1	+	25	3391	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	MYH14_ENST00000440075.2_Missense_Mutation_p.R1172W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1172W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1139W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1164W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1172W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1139W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1131					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1172W(1)|p.R1131W(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAATCCCTGCGGGAGGCTCA	0.677																																					p.R1172W		Atlas-SNP	.											MYH14_ENST00000262269,colon,carcinoma,0,4	MYH14	261	4	2	Substitution - Missense(2)	large_intestine(2)	c.C3514T						PASS	.						13	17	16					19																	50779294		1978	4162	6140	SO:0001583	missense	79784	exon28			TCCCTGCGGGAGG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3391C>T	19.37:g.50779294C>T	ENSP00000472819:p.Arg1131Trp	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874422	0.51695	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.0	1.63	0.23807	Myosin tail (1);	.	.	.	.	D	0.86916	0.6048	M	0.71581	2.175	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86838	0.2015	9	0.87932	D	0	.	10.4099	0.44287	0.3458:0.6542:0.0:0.0	.	1172;1131;1139	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1131;1172;1164;1139;1131;1172	ENSP00000406273:R1172W;ENSP00000366169:R1164W;ENSP00000407879:R1139W;ENSP00000262269:R1172W	ENSP00000262269:R1172W	R	+	1	2	MYH14	55471106	0.996000	0.38824	0.988000	0.46212	0.268000	0.26511	1.177000	0.31969	1.031000	0.39867	0.455000	0.32223	CGG	.	.	alt		0.677	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50779294	C	T	50779294	3	4	7	1	0	0	0	0	1	0	0	0	10033	759	27	1	3620	1	MYH14	19	50779294	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	381631	50779294	8349689	176	1505										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55148031	55148031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agagaaatggcctctcctccTtccccactgtctggggaatt	9	13	2	1	rs41308746	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:55148031T>C	ENST00000396331.1	+	15	2091	c.1734T>C	c.(1732-1734)ccT>ccC	p.P578P	LILRB1_ENST00000396332.4_Silent_p.P579P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Silent_p.P579P|LILRB1_ENST00000427581.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P562P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.P578P|LILRB1_ENST00000396321.2_Silent_p.P578P|LILRB1_ENST00000418536.2_Silent_p.P562P|LILRB1_ENST00000396315.1_Silent_p.P580P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Silent_p.P580P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCCTCCTTCCCCACTGT	0.582										HNSCC(37;0.09)			t|||	554	0.110623	0.1785	0.0893	5008	,	,		16680	0.0139		0.1491	False		,,,				2504	0.0941				p.P580P		Atlas-SNP	.											LILRB1,NS,carcinoma,+2,1	LILRB1	140	1	0			c.T1740C						scavenged	.						111	95	100					19																	55148031		2200	4295	6495	SO:0001819	synonymous_variant	10859	exon14			TCCTCCTTCCCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1734T>C	19.37:g.55148031T>C		Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	131	4	0.0305344	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																			.	.	weak		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55148031	T	C	55148031	2	2	7	1	0	0	0	0	0	0	0	1	8790	1596	56	3		3	LILRB1	19	55148031	Silent	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	4368737	55148031	3980952	177	1506										
ZNF772	400720	hgsc.bcm.edu	37	chr19	57985566	57985566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tggtgaaggtttgcactgaaGcagaactgtttcccacacag	11	9	0	3	rs2074060	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr19:57985566G>C	ENST00000343280.4	-	5	806	c.546C>G	c.(544-546)tgC>tgG	p.C182W	ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.C70W|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.C141W|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	182			C -> W (in dbSNP:rs2074060). {ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTGCACTGAAGCAGAACTGTT	0.498													C|||	3390	0.676917	0.6135	0.719	5008	,	,		22251	0.7014		0.6392	False		,,,				2504	0.7464				p.C182W	Melanoma(5;289 436 14293 15924 30817)	Atlas-SNP	.											.	ZNF772	42	.	0			c.C546G						PASS	.	C	TRP/CYS,TRP/CYS	2708,1698	512.6+/-368.1	833,1042,328	118	104	109		546,423	-1.1	0	19	dbSNP_96	109	5446,3154	479.5+/-370.1	1679,2088,533	yes	missense,missense	ZNF772	NM_001024596.2,NM_001144068.1	215,215	2512,3130,861	CC,CG,GG		36.6744,38.5384,37.3059	benign,benign	182/490,141/449	57985566	8154,4852	2203	4300	6503	SO:0001583	missense	400720	exon5			ACTGAAGCAGAAC	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.546C>G	19.37:g.57985566G>C	ENSP00000341165:p.Cys182Trp	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	108	6	0.0555556	NM_001024596	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	1449|1449	0.6634615384615384|0.6634615384615384	299|299	0.6077235772357723|0.6077235772357723	255|255	0.7044198895027625|0.7044198895027625	411|411	0.7185314685314685|0.7185314685314685	484|484	0.6385224274406333|0.6385224274406333	C|C	0.004|0.004	-2.310840|-2.310840	0.00237|0.00237	0.614616|0.614616	0.633256|0.633256	ENSG00000197128|ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584|ENST00000291809	T;T;T|.	0.07567|.	3.18;3.18;3.18|.	3.99|3.99	-1.09|-1.09	0.09904|0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.27053|0.27053	0.805|0.805	0.52501|0.52501	P|P	4.999999999999449E-5|4.999999999999449E-5	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.28332|0.28332	-1.0047|-1.0047	8|5	0.34782|0.46703	T|T	0.22|0.11	.|.	1.1261|1.1261	0.01735|0.01735	0.3129:0.2295:0.3079:0.1498|0.3129:0.2295:0.3079:0.1498	rs2074060;rs57900222;rs2074060|rs2074060;rs57900222;rs2074060	70;141;182|.	Q68DY9-2;A6NJK9;Q68DY9|.	.;.;ZN772_HUMAN|.	W|M	182;70;128;141|107	ENSP00000341165:C182W;ENSP00000395967:C70W;ENSP00000348992:C141W|.	ENSP00000321015:C128W|ENSP00000291809:I107M	C|I	-|-	3|3	2|3	ZNF772|ZNF772	62677378|62677378	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.518000|0.518000	0.34316|0.34316	-1.716000|-1.716000	0.01878|0.01878	0.038000|0.038000	0.15604|0.15604	-0.322000|-0.322000	0.08575|0.08575	TGC|ATC	G|0.353;C|0.646	0.646	strong		0.498	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		C	57985566	G	C	57985566	3	2	7	1	0	0	0	0	1	0	0	0	18142	963	34	4	927	4	ZNF772	19	57985566	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	2837535	57985566	1143417	178	1507										
RBM12	10137	hgsc.bcm.edu	37	chr20	34242575	34242575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	aggaactgggggaatcggggGcacaggaggcacaggaggca	20	7	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr20:34242575G>T	ENST00000374114.3	-	3	933	c.670C>A	c.(670-672)Ccc>Acc	p.P224T	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P224T|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Missense_Mutation_p.P224T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	224	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAATCGGGGGCACAGGAGGC	0.602																																					p.P224T		Atlas-SNP	.											.	RBM12	93	.	0			c.C670A						PASS	.						103	82	89					20																	34242575		2203	4300	6503	SO:0001583	missense	10137	exon2			TCGGGGGCACAGG	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.670C>A	20.37:g.34242575G>T	ENSP00000363228:p.Pro224Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_001198840	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681847	0.29872	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942;ENST00000424458	T;T;T;T	0.27402	2.53;2.53;2.53;1.67	5.23	5.23	0.72850	.	0.074210	0.56097	D	0.000030	T	0.16769	0.0403	N	0.19112	0.55	0.80722	D	1	P	0.39480	0.675	B	0.26094	0.066	T	0.09228	-1.0684	10	0.08179	T	0.78	-2.6574	19.0135	0.92884	0.0:0.0:1.0:0.0	.	224	Q9NTZ6	RBM12_HUMAN	T	224;224;224;23;224	ENSP00000363228:P224T;ENSP00000352668:P224T;ENSP00000363217:P224T;ENSP00000411036:P224T	ENSP00000339879:P23T	P	-	1	0	RBM12	33705989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.344000	0.59354	2.719000	0.93026	0.555000	0.69702	CCC	.	.	none		0.602	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		T	34242575	G	T	34242575	3	4	7	1	0	0	0	0	1	0	0	0	13113	1203	42	4	2132	4	RBM12	20	34242575	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10		34242575	28782945	179	1508										
RIMS4	140730	hgsc.bcm.edu	37	chr20	43385538	43385538	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gagcgcgtcaatgcccctcaCctggaggactttgccctggg	13	14	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr20:43385538C>A	ENST00000372851.3	-	5	658		c.e5+1		RIMS4_ENST00000541604.2_Splice_Site	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGCCCCTCACCTGGAGGACT	0.587																																					.		Atlas-SNP	.											.	RIMS4	47	.	0			c.594+1G>T						PASS	.						242	211	221					20																	43385538		2203	4300	6503	SO:0001630	splice_region_variant	140730	exon6			CCCTCACCTGGAG		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.591+1G>T	20.37:g.43385538C>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	113	52	0.460177	NM_001205317	A4FU94|E1P613|Q3MI44|Q5JWT7	Splice_Site	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143738	0.77888	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6881	0.91573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIMS4	42818952	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.818000	0.86416	2.404000	0.81709	0.462000	0.41574	.	.	.	none		0.587	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	Intron	A	43385538	C	A	43385538	5	1	7	1	0	0	0	0	0	0	1	0	13370	521	18	4	225	4	RIMS4	20	43385538	Splice_Site	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	9142963	43385538	19639982	180	1509										
ZBP1	81030	hgsc.bcm.edu	37	chr20	56195323	56195323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gaagaagtactgtaccttctCtgcccgggtcagcaggagcc	12	12	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr20:56195323C>T	ENST00000371173.3	-	1	206	c.29G>A	c.(28-30)aGa>aAa	p.R10K	ZBP1_ENST00000340462.4_Missense_Mutation_p.R10K|ZBP1_ENST00000343535.4_Missense_Mutation_p.R10K|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Missense_Mutation_p.R10K|ZBP1_ENST00000541799.1_Missense_Mutation_p.R10K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	10					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGTACCTTCTCTGCCCGGGTC	0.577																																					p.R10K		Atlas-SNP	.											.	ZBP1	65	.	0			c.G29A						PASS	.						39	34	35					20																	56195323		2198	4298	6496	SO:0001583	missense	81030	exon1			CCTTCTCTGCCCG	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.29G>A	20.37:g.56195323C>T	ENSP00000360215:p.Arg10Lys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_001160419	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	3.457	-0.110823	0.06924	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.13778	3.17;2.56;3.17;3.14;2.81	3.23	-4.69	0.03299	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.821130	0.03512	N	0.219696	T	0.04634	0.0126	N	0.03608	-0.345	0.09310	N	1	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	0.39482	-0.9612	10	0.02654	T	1	4.3898	7.5004	0.27513	0.0:0.1146:0.632:0.2534	.	10;10;10;10	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	K	10	ENSP00000360215:R10K;ENSP00000379167:R10K;ENSP00000344954:R10K;ENSP00000340584:R10K;ENSP00000440552:R10K	ENSP00000344954:R10K	R	-	2	0	ZBP1	55628729	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.844000	0.04345	-0.756000	0.04703	-0.658000	0.03865	AGA	.	.	none		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		T	56195323	C	T	56195323	3	4	7	1	0	0	0	0	1	0	0	0	17518	913	32	2	1369	2	ZBP1	20	56195323	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	12809785	56195323	6830197	181	1510										
HSF2BP	11077	hgsc.bcm.edu	37	chr21	45064273	45064273	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cttgctctttcctttccaggTctaggagaaagacataaaat	7	9	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr21:45064273T>C	ENST00000291560.2	-	4	519	c.188A>G	c.(187-189)aAc>aGc	p.N63S	HSF2BP_ENST00000542962.1_5'UTR	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	63					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCTTTCCAGGTCTAGGAGAAA	0.408																																					p.N63S		Atlas-SNP	.											.	HSF2BP	28	.	0			c.A188G						PASS	.						106	103	104					21																	45064273		2203	4300	6503	SO:0001630	splice_region_variant	11077	exon4			TCCAGGTCTAGGA	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.188-1A>G	21.37:g.45064273T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	101	38	0.376238	NM_007031	B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	T	3.845	-0.033093	0.07543	.	.	ENSG00000160207	ENST00000291560;ENST00000443485	.	.	.	5.2	4.07	0.47477	.	0.456651	0.24534	N	0.037681	T	0.23054	0.0557	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14035	-1.0487	9	0.13108	T	0.6	.	2.7045	0.05158	0.0:0.1771:0.2775:0.5454	.	63	O75031	HSF2B_HUMAN	S	63	.	ENSP00000291560:N63S	N	-	2	0	HSF2BP	43888701	0.994000	0.37717	1.000000	0.80357	0.954000	0.61252	0.367000	0.20382	1.966000	0.57179	0.460000	0.39030	AAC	.	.	none		0.408	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031	Missense_Mutation	C	45064273	T	C	45064273	5	2	7	1	0	0	0	0	0	0	1	0	7397	1681	58	2	840	2	HSF2BP	21	45064273	Splice_Site	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10		45064273	3065622	182	1511										
MICAL3	57553	hgsc.bcm.edu	37	chr22	18314712	18314712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cctcctcttcattcccaggcCcaaagctctttgaggcctct	6	17	4	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr22:18314712C>T	ENST00000441493.2	-	21	3315	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	988	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATTCCCAGGCCCAAAGCTCTT	0.552																																					p.G988E		Atlas-SNP	.											.	MICAL3	53	.	0			c.G2963A						PASS	.						66	58	61					22																	18314712		1564	3575	5139	SO:0001583	missense	57553	exon21			CCAGGCCCAAAGC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2963G>A	22.37:g.18314712C>T	ENSP00000416015:p.Gly988Glu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	2.016	-0.426009	0.04701	.	.	ENSG00000093100	ENST00000441493	T	0.59364	0.27	5.27	-7.39	0.01402	.	.	.	.	.	T	0.23133	0.0559	N	0.08118	0	0.40554	D	0.981146	B	0.02656	0.0	B	0.01281	0.0	T	0.37934	-0.9684	9	0.02654	T	1	.	5.9692	0.19342	0.1768:0.5039:0.0902:0.2291	.	988	Q7RTP6	MICA3_HUMAN	E	988	ENSP00000416015:G988E	ENSP00000416015:G988E	G	-	2	0	XXbac-B461K10.4	16694712	0.004000	0.15560	0.000000	0.03702	0.258000	0.26162	-0.169000	0.09911	-2.929000	0.00301	-1.183000	0.01708	GGG	.	.	none		0.552	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18314712	C	T	18314712	3	4	7	1	0	0	0	0	1	0	0	0	9571	623	22	2	3093	2	MICAL3	22	18314712	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10		18314712	32989854	183	1512										
CSNK1E	1454	hgsc.bcm.edu	37	chr22	38690161	38690163	+	In_Frame_Del	DEL	GAG	GAG	-													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cttgccgcccagtgaggtctGaggaggagacgttggcgggc							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr22:38690161_38690163delGAG	ENST00000396832.1	-	9	1430_1432	c.1170_1172delCTC	c.(1168-1173)tcctca>tca	p.390_391SS>S	CSNK1E_ENST00000403904.1_In_Frame_Del_p.390_391SS>S|CSNK1E_ENST00000359867.3_In_Frame_Del_p.390_391SS>S|CSNK1E_ENST00000400206.2_In_Frame_Del_p.390_391SS>S|CSNK1E_ENST00000498529.1_5'Flank	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	390					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AGTGAGGTCTGAGGAGGAGACGT	0.645																																					p.391_391del	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	Pindel,Atlas-Indel	.											.	CSNK1E	143	.	0			c.1171_1173del						PASS	.																																			SO:0001651	inframe_deletion	1454	exon9			.		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1170_1172delCTC	22.37:g.38690167_38690169delGAG	ENSP00000380044:p.Ser391del	Somatic	31	.	.		WXS	Illumina HiSeq	Phase_I	42	13	0.31	NM_001894		In_Frame_Del	DEL	ENST00000396832.1	37	CCDS13970.1																																																																																			.	.	none		0.645	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		-	38690163	GAG	-	38690161	7	5	7	1	0	1	0	1	0	0	0	0	3953	1294	45	0	86	0	CSNK1E	22	38690161	In_Frame_Del	DEL	GAG	TCGA-FA-A7Q1-01A-11D-A382-10	20375449	38690161	12614405	184	1513										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50727961	50727961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	cataccggcgcgtggccgccGcactggatatcgccgtggaa	14	14	0	0	rs541323204	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chr22:50727961G>A	ENST00000449103.1	-	3	1193	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLXNB2_ENST00000359337.4_Silent_p.C351C			O15031	PLXB2_HUMAN	plexin B2	351	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGGCCGCCGCACTGGATAT	0.662													G|||	4	0.000798722	0.0	0.0	5008	,	,		15347	0.004		0.0	False		,,,				2504	0.0				p.C351C		Atlas-SNP	.											.	PLXNB2	172	.	0			c.C1053T						PASS	.						24	29	28					22																	50727961		1987	4152	6139	SO:0001819	synonymous_variant	23654	exon3			GCCGCCGCACTGG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1053C>T	22.37:g.50727961G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	21	13	0.619048	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																			.	.	none		0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50727961	G	A	50727961	2	1	7	1	0	0	0	0	0	0	0	1	12124	1079	38	1		1	PLXNB2	22	50727961	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	12037800	50727961	576605	185	1514										
ARHGAP6	395	hgsc.bcm.edu	37	chrX	11160430	11160430	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tatcgaaaggctcctctgacAgatctagggaaaaagtgtat	10	7	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:11160430A>C	ENST00000337414.4	-	12	3052	c.2180T>G	c.(2179-2181)cTg>cGg	p.L727R	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L552R|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L524R|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L524R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	727					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCTCTGACAGATCTAGGGA	0.323																																					p.L727R		Atlas-SNP	.											.	ARHGAP6	130	.	0			c.T2180G						PASS	.						80	78	79					X																	11160430		2203	4300	6503	SO:0001583	missense	395	exon12			TCTGACAGATCTA	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2180T>G	X.37:g.11160430A>C	ENSP00000338967:p.Leu727Arg	Somatic	400	1	0.0025		WXS	Illumina HiSeq	Phase_I	491	151	0.307536	NM_013427	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323162	0.41096	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414	T;T;T;T	0.24723	1.84;1.91;1.91;1.91	5.24	4.07	0.47477	.	0.213907	0.32106	N	0.006562	T	0.11879	0.0289	N	0.08118	0	0.80722	D	1	B;P	0.34780	0.138;0.468	B;B	0.29267	0.021;0.1	T	0.13602	-1.0503	10	0.36615	T	0.2	.	10.2557	0.43397	0.921:0.0:0.079:0.0	.	727;727	O43182;A8KAL3	RHG06_HUMAN;.	R	552;524;524;727	ENSP00000438135:L552R;ENSP00000370112:L524R;ENSP00000302312:L524R;ENSP00000338967:L727R	ENSP00000302312:L524R	L	-	2	0	ARHGAP6	11070351	1.000000	0.71417	0.985000	0.45067	0.872000	0.50106	6.002000	0.70693	0.656000	0.30886	0.481000	0.45027	CTG	.	.	none		0.323	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		C	11160430	A	C	11160430	3	2	7	1	0	0	0	0	1	0	0	0	887	188	7	5	752	5	ARHGAP6	23	11160430	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10		11160430	144110130	186	1515										
CTPS2	56474	hgsc.bcm.edu	37	chrX	16707682	16707682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gctttgttcctctaaaagcaCaggaactcggtatgtggaag	11	8	1	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:16707682C>T	ENST00000443824.1	-	8	1506	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	CTPS2_ENST00000359276.4_Missense_Mutation_p.V255M|CTPS2_ENST00000380241.3_Missense_Mutation_p.V255M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	255					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCTAAAAGCACAGGAACTCGG	0.383																																					p.V255M		Atlas-SNP	.											.	CTPS2	49	.	0			c.G763A						PASS	.						127	112	117					X																	16707682		2203	4300	6503	SO:0001583	missense	56474	exon8			AAAGCACAGGAAC	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.763G>A	X.37:g.16707682C>T	ENSP00000401264:p.Val255Met	Somatic	483	1	0.00207039		WXS	Illumina HiSeq	Phase_I	668	169	0.252994	NM_001144002	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.911512	0.33721	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.43688	0.94;0.94;0.94	5.81	0.87	0.19102	CTP synthase, N-terminal (1);	0.440911	0.20974	N	0.082328	T	0.14527	0.0351	N	0.02412	-0.56	0.23920	N	0.996468	B	0.18741	0.03	B	0.19946	0.027	T	0.16217	-1.0410	10	0.66056	D	0.02	-4.8399	1.1054	0.01693	0.1316:0.2687:0.2635:0.3362	.	255	Q9NRF8	PYRG2_HUMAN	M	255	ENSP00000401264:V255M;ENSP00000369590:V255M;ENSP00000352222:V255M	ENSP00000352222:V255M	V	-	1	0	CTPS2	16617603	0.666000	0.27475	0.693000	0.30195	0.920000	0.55202	0.573000	0.23699	-0.261000	0.09405	0.591000	0.81541	GTG	.	.	none		0.383	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		T	16707682	C	T	16707682	3	4	7	1	0	0	0	0	1	0	0	0	4023	478	17	2	1041	2	CTPS2	23	16707682	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	5547252	16707682	138562878	187	1516										
MAGEB10	139422	hgsc.bcm.edu	37	chrX	27839462	27839462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	agtaaactccgtgccagggaAaaacgccgtcaggcccgagg	13	12	1	0	rs147336706	byFrequency	TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:27839462A>C	ENST00000356790.2	+	3	284	c.39A>C	c.(37-39)gaA>gaC	p.E13D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	13										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GTGCCAGGGAAAAACGCCGTC	0.527																																					p.E13D		Atlas-SNP	.											.	MAGEB10	107	.	0			c.A39C						PASS	.						54	54	54					X																	27839462		2202	4300	6502	SO:0001583	missense	139422	exon3			CAGGGAAAAACGC		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.39A>C	X.37:g.27839462A>C	ENSP00000368304:p.Glu13Asp	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	250	49	0.196	NM_182506	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320930	0.41096	.	.	ENSG00000177689	ENST00000356790	T	0.08896	3.04	2.51	-1.62	0.08372	Melanoma associated antigen, MAGE, N-terminal (1);	1.247610	0.06246	U	0.691280	T	0.20007	0.0481	M	0.83223	2.63	0.09310	N	1	D	0.53462	0.96	P	0.53006	0.715	T	0.21449	-1.0245	10	0.54805	T	0.06	.	5.7982	0.18399	0.5237:0.0:0.4763:0.0	.	13	Q96LZ2	MAGBA_HUMAN	D	13	ENSP00000368304:E13D	ENSP00000368304:E13D	E	+	3	2	MAGEB10	27749383	0.044000	0.20184	0.001000	0.08648	0.012000	0.07955	-0.122000	0.10627	-0.468000	0.06922	0.339000	0.21740	GAA	A|0.993;G|0.007	.	alt		0.527	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		C	27839462	A	C	27839462	3	2	7	1	0	0	0	0	1	0	0	0	9173	11	1	5	41	5	MAGEB10	23	27839462	Missense_Mutation	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	11131780	27839462	127431098	188	1517										
GRIPAP1	56850	hgsc.bcm.edu	37	chrX	48837643	48837643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	tcacctgagcggctcttgctGttagtgaggatgtcctgcag	13	10	2	2			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:48837643G>A	ENST00000376441.1	-	21	1948	c.1914C>T	c.(1912-1914)aaC>aaT	p.N638N	GRIPAP1_ENST00000376444.3_Silent_p.N593N|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.N559N|GRIPAP1_ENST00000376425.3_Silent_p.N607N	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	638						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGCTCTTGCTGTTAGTGAGGA	0.622																																					p.N638N		Atlas-SNP	.											.	GRIPAP1	128	.	0			c.C1914T						PASS	.						75	51	59					X																	48837643		2203	4300	6503	SO:0001819	synonymous_variant	56850	exon21			CTTGCTGTTAGTG	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1914C>T	X.37:g.48837643G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	199	124	0.623116	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	CCDS35248.1																																																																																			.	.	none		0.622	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48837643	G	A	48837643	2	1	7	1	0	0	0	0	0	0	0	1	6789	1368	48	2		2	GRIPAP1	23	48837643	Silent	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	20998181	48837643	106432917	189	1518										
NHSL2	340527	hgsc.bcm.edu	37	chrX	71358413	71358413	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtcaggatgctcggttcccaAgtctcacctcgccagtactg	10	14	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:71358413A>G	ENST00000373677.1	+	0	1179				NHSL2_ENST00000540800.1_Missense_Mutation_p.S339G|NHSL2_ENST00000535692.1_5'UTR|NHSL2_ENST00000510661.1_Missense_Mutation_p.S108G			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCGGTTCCCAAGTCTCACCTC	0.582																																					p.S339G		Atlas-SNP	.											.	NHSL2	148	.	0			c.A1015G						PASS	.						107	91	96					X																	71358413		692	1591	2283	SO:0001623	5_prime_UTR_variant	340527	exon6			TTCCCAAGTCTCA			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-84A>G	X.37:g.71358413A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	181	108	0.596685	NM_001013627	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	A	10.15	1.271688	0.23221	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.47177	1.45;0.85	5.79	4.63	0.57726	.	.	.	.	.	T	0.33527	0.0866	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.15473	0.013;0.013	B;B	0.19391	0.025;0.025	T	0.07790	-1.0754	8	.	.	.	.	9.1966	0.37231	0.9136:0.0:0.0864:0.0	.	339;108	F5H593;D6RBM4	.;.	G	339;108	ENSP00000444617:S339G;ENSP00000424079:S108G	.	S	+	1	0	NHSL2	71275138	0.343000	0.24818	0.981000	0.43875	0.226000	0.24999	1.445000	0.35079	0.806000	0.34183	-0.334000	0.08254	AGT	.	.	none		0.582	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		G	71358413	A	G	71358413	1	3	7	0	1	0	0	0	0	0	0	0	10412	72	3	3		3	NHSL2	23	71358413	5'UTR	SNP	A	TCGA-FA-A7Q1-01A-11D-A382-10	22520770	71358413	83912147	190	1519										
ATRX	546	hgsc.bcm.edu	37	chrX	76845412	76845413	+	Splice_Site	INS	-	-	A													0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gactggctgaaaacaaggctINSaaaaaaacagattagtgttt							TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:76845412_76845413insA	ENST00000373344.5	-	27	6325		c.e27-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAACAAGGCTAAAAAAACAGA	0.332			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														.		Atlas-Indel	.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833	.	1	Unknown(1)	bone(1)	c.6111-2->T						PASS	.																																			SO:0001630	splice_region_variant	546	exon28			.	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6111-2->T	X.37:g.76845419_76845419dupA		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	386	66	0.170984	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	INS	ENST00000373344.5	37	CCDS14434.1																																																																																			.	.	none		0.332	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	A	76845413	-	A	76845412	8	5	7	1	0	1	1	0	0	0	1	0	1208	1536	53	0	1405	0	ATRX	23	76845412	Splice_Site	INS	-	TCGA-FA-A7Q1-01A-11D-A382-10	5486999	76845412	78425148	191	1520										
TRPC5	7224	hgsc.bcm.edu	37	chrX	111090430	111090430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ggtttcataatagaagtaaaGctggttcagtccattggcaa	10	6	2	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:111090430G>T	ENST00000262839.2	-	6	2530	c.1612C>A	c.(1612-1614)Ctt>Att	p.L538I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	538					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGAAGTAAAGCTGGTTCAGT	0.453																																					p.L538I		Atlas-SNP	.											.	TRPC5	142	.	0			c.C1612A						PASS	.						153	132	139					X																	111090430		2203	4300	6503	SO:0001583	missense	7224	exon6			AGTAAAGCTGGTT	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1612C>A	X.37:g.111090430G>T	ENSP00000262839:p.Leu538Ile	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	216	56	0.259259	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843698	0.91197	.	.	ENSG00000072315	ENST00000262839	D	0.99080	-5.4	5.16	5.16	0.70880	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.79784	0.971;0.993	D	0.99818	1.1045	10	0.49607	T	0.09	-5.426	17.8405	0.88714	0.0:0.0:1.0:0.0	.	539;538	Q59G51;Q9UL62	.;TRPC5_HUMAN	I	538	ENSP00000262839:L538I	ENSP00000262839:L538I	L	-	1	0	TRPC5	110977086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.814000	0.99346	2.145000	0.66743	0.436000	0.28706	CTT	.	.	none		0.453	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		T	111090430	G	T	111090430	3	4	7	1	0	0	0	0	1	0	0	0	16579	971	34	4	1333	4	TRPC5	23	111090430	Missense_Mutation	SNP	G	TCGA-FA-A7Q1-01A-11D-A382-10	34245018	111090430	44180130	192	1521										
MAP7D3	79649	hgsc.bcm.edu	37	chrX	135301796	135301796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	ttcatccgcctttctggtttTcgttgtgtgactggtcattc	9	10	3	1			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:135301796T>C	ENST00000316077.9	-	17	2741	c.2521A>G	c.(2521-2523)Aaa>Gaa	p.K841E	MAP7D3_ENST00000370663.5_Missense_Mutation_p.K823E|MAP7D3_ENST00000370661.1_Missense_Mutation_p.K806E|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	841					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTCTGGTTTTCGTTGTGTGA	0.433																																					p.K841E		Atlas-SNP	.											.	MAP7D3	102	.	0			c.A2521G						PASS	.						241	220	227					X																	135301796		1964	4134	6098	SO:0001583	missense	79649	exon17			TGGTTTTCGTTGT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2521A>G	X.37:g.135301796T>C	ENSP00000318086:p.Lys841Glu	Somatic	460	0	0		WXS	Illumina HiSeq	Phase_I	636	191	0.300314	NM_024597	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071604	0.55646	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.23147	1.92;3.75;3.75;1.95	4.0	4.0	0.46444	.	.	.	.	.	T	0.33294	0.0858	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.64830	0.989;0.994;0.989;0.994	P;D;P;D	0.65773	0.868;0.938;0.868;0.938	T	0.07065	-1.0792	9	0.72032	D	0.01	-19.2007	8.4163	0.32672	0.0:0.0:0.0:1.0	.	823;800;841;806	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	806;841;823;800	ENSP00000359695:K806E;ENSP00000318086:K841E;ENSP00000359697:K823E;ENSP00000359694:K800E	ENSP00000318086:K841E	K	-	1	0	MAP7D3	135129462	0.045000	0.20229	0.003000	0.11579	0.012000	0.07955	1.746000	0.38288	1.805000	0.52779	0.430000	0.28490	AAA	.	.	none		0.433	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			C	135301796	T	C	135301796	3	2	7	1	0	0	0	0	1	0	0	0	9269	1792	62	2	117	2	MAP7D3	23	135301796	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	24211366	135301796	19968764	193	1522										
FLNA	2316	hgsc.bcm.edu	37	chrX	153578209	153578209	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	accagctcccgcattgctcgTgttcacgacgaactcagctg	9	15	2	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:153578209T>A	ENST00000369850.3	-	46	7596	c.7360A>T	c.(7360-7362)Acg>Tcg	p.T2454S	FLNA_ENST00000344736.4_Missense_Mutation_p.T2414S|FLNA_ENST00000369856.3_Missense_Mutation_p.T587S|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000422373.1_Missense_Mutation_p.T2446S|FLNA_ENST00000360319.4_Missense_Mutation_p.T2446S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2454					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATTGCTCGTGTTCACGACG	0.637											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T2454S		Atlas-SNP	.											.	FLNA	373	.	0			c.A7360T						PASS	.						36	36	36					X																	153578209		2070	4180	6250	SO:0001583	missense	2316	exon46			TGCTCGTGTTCAC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7360A>T	X.37:g.153578209T>A	ENSP00000358866:p.Thr2454Ser	Somatic	56	0	0	1756	WXS	Illumina HiSeq	Phase_I	72	15	0.208333	NM_001110556	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002443	0.54254	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.32	5.32	0.75619	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.83483	2.645	0.45161	D	0.99817	D;D;D;D	0.89917	0.968;0.965;1.0;1.0	D;P;D;D	0.85130	0.96;0.607;0.997;0.997	D	0.93165	0.6561	10	0.59425	D	0.04	.	14.335	0.66584	0.0:0.0:0.0:1.0	.	587;2446;2454;2454	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	S	2446;2122;2446;2454;587;2414	ENSP00000353467:T2446S;ENSP00000416926:T2446S;ENSP00000358866:T2454S;ENSP00000358872:T587S;ENSP00000358863:T2414S	ENSP00000358863:T2414S	T	-	1	0	FLNA	153231403	1.000000	0.71417	0.987000	0.45799	0.272000	0.26649	7.996000	0.88334	1.764000	0.52075	0.350000	0.21858	ACG	.	.	none		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153578209	T	A	153578209	3	1	7	1	0	0	0	0	1	0	0	0	5933	1696	59	5	595	5	FLNA	23	153578209	Missense_Mutation	SNP	T	TCGA-FA-A7Q1-01A-11D-A382-10	18276413	153578209	1692351	194	1523										
SPRY3	10251	hgsc.bcm.edu	37	chrX	155004002	155004002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.046875	9	1	0.736732186732187	2.11870694223635	0.484113145403468	1	1	0	gtgggcgctgcaagtgcgtcCcctgcacagcagctcgccct	13	16	0	0			TCGA-FA-A7Q1-01A-11D-A382-10	TCGA-FA-A7Q1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9c377b8a-f2c6-4113-8515-8eb29e95690c	722874f7-34b9-4f67-8cf3-700ec8f4c50e	g.chrX:155004002C>A	ENST00000302805.2	+	2	900	c.469C>A	c.(469-471)Ccc>Acc	p.P157T		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	157	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAGTGCGTCCCCTGCACAGC	0.592																																					p.P157T		Atlas-SNP	.											.	SPRY3	52	.	0			c.C469A						PASS	.						140	140	140					X																	155004002		2203	4296	6499	SO:0001583	missense	10251	exon2			TGCGTCCCCTGCA	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.469C>A	X.37:g.155004002C>A	ENSP00000302978:p.Pro157Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	157	53	0.33758	NM_005840	A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	8.853	0.945004	0.18356	.	.	ENSG00000168939	ENST00000302805	T	0.62232	0.04	2.71	2.71	0.32032	.	0.323378	0.29034	N	0.013349	T	0.44993	0.1320	.	.	.	0.09310	N	1	B	0.26975	0.165	B	0.16722	0.016	T	0.38693	-0.9649	9	0.51188	T	0.08	-30.9202	7.1284	0.25486	0.0:0.7231:0.2769:0.0	.	157	O43610	SPY3_HUMAN	T	157	ENSP00000302978:P157T	ENSP00000302978:P157T	P	+	1	0	SPRY3	154657196	0.997000	0.39634	0.995000	0.50966	0.748000	0.42578	3.822000	0.55708	1.366000	0.46076	0.279000	0.19357	CCC	.	.	none		0.592	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		A	155004002	C	A	155004002	3	1	7	1	0	0	0	0	1	0	0	0	15106	623	22	4	471	4	SPRY3	23	155004002	Missense_Mutation	SNP	C	TCGA-FA-A7Q1-01A-11D-A382-10	1425793	155004002	266558	195	1524										
ENO1	2023	hgsc.bcm.edu	37	chr1	8927286	8927286	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gacggcaagggacacccccaGaatggcgttcgcaccaaact	11	14	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:8927286G>C	ENST00000234590.4	-	6	453	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	112	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GACACCCCCAGAATGGCGTTC	0.547																																					p.L112V	Esophageal Squamous(21;302 608 19946 22210 33560)	Atlas-SNP	.											.	ENO1	38	.	0			c.C334G						PASS	.						84	88	87					1																	8927286		2203	4300	6503	SO:0001583	missense	2023	exon6			CCCCCAGAATGGC	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.334C>G	1.37:g.8927286G>C	ENSP00000234590:p.Leu112Val	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	69	12	0.173913	NM_001428	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685277	0.68157	.	.	ENSG00000074800	ENST00000234590	T	0.36157	1.27	5.5	1.51	0.23008	Enolase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57607	0.2065	M	0.85859	2.78	0.39404	D	0.966647	D;D;D	0.64830	0.994;0.974;0.989	D;P;P	0.68353	0.957;0.842;0.902	T	0.63056	-0.6722	10	0.87932	D	0	-10.1455	9.0472	0.36354	0.4206:0.0:0.5794:0.0	.	79;19;112	A4UCS8;P06733-2;P06733	.;.;ENOA_HUMAN	V	112	ENSP00000234590:L112V	ENSP00000234590:L112V	L	-	1	2	ENO1	8849873	1.000000	0.71417	0.995000	0.50966	0.731000	0.41821	2.308000	0.43690	0.687000	0.31509	0.655000	0.94253	CTG	.	.	none		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		C	8927286	G	C	8927286	3	2	8	1	0	0	0	0	1	0	0	0	5121	933	33	4	998	4	ENO1	1	8927286	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		8927286	240323335	1	1525										
PRAMEF10	343071	hgsc.bcm.edu	37	chr1	12954921	12954921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cctctggggagcaggagaggAccctggctccagaccatatg	14	12	1	2	rs199792484	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:12954921A>G	ENST00000235347.4	-	3	441	c.362T>C	c.(361-363)gTc>gCc	p.V121A		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	121					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGAGGACCCTGGCTCC	0.532																																					p.V121A		Atlas-SNP	.											PRAMEF10,NS,carcinoma,0,1	PRAMEF10	35	1	0			c.T362C						scavenged	.						16	16	16					1																	12954921		1209	2747	3956	SO:0001583	missense	343071	exon3			GAGAGGACCCTGG	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.362T>C	1.37:g.12954921A>G	ENSP00000235347:p.Val121Ala	Somatic	141	2	0.0141844		WXS	Illumina HiSeq	Phase_I	137	13	0.0948905	NM_001039361	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.989193	0.00046	.	.	ENSG00000187545	ENST00000235347	T	0.04706	3.57	1.65	-3.3	0.05003	.	2.600110	0.01694	N	0.026836	T	0.01287	0.0042	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.02654	T	1	.	2.8919	0.05679	0.4191:0.0:0.2344:0.3465	.	121	O60809	PRA10_HUMAN	A	121	ENSP00000235347:V121A	ENSP00000235347:V121A	V	-	2	0	PRAMEF10	12877508	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.380000	0.00491	-2.367000	0.00605	-1.140000	0.01884	GTC	A|0.930;G|0.070	0.070	strong		0.532	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		G	12954921	A	G	12954921	3	3	8	1	0	0	0	0	1	0	0	0	12426	275	10	2	1070	2	PRAMEF10	1	12954921	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	4027635	12954921	236295700	2	1526										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22181135	22181135	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gaggcaggctaccccctcgcCtgtaccaggtgacctgggca	13	15	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:22181135C>G	ENST00000374695.3	-	49	6336	c.6257G>C	c.(6256-6258)aGg>aCg	p.R2086T	HSPG2_ENST00000430507.1_Missense_Mutation_p.R36T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2086	Ig-like C2-type 6.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCCCCTCGCCTGTACCAGGT	0.642																																					p.R2086T		Atlas-SNP	.											.	HSPG2	311	.	0			c.G6257C						PASS	.						33	33	33					1																	22181135		2199	4293	6492	SO:0001583	missense	3339	exon49			CCTCGCCTGTACC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6257G>C	1.37:g.22181135C>G	ENSP00000363827:p.Arg2086Thr	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	58	24	0.413793	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383625	0.42207	.	.	ENSG00000142798	ENST00000374695;ENST00000430507	T;T	0.17854	2.25;2.25	5.54	-0.126	0.13515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.398345	0.17595	N	0.168617	T	0.32734	0.0839	M	0.87900	2.915	0.23215	N	0.998107	P;B	0.45044	0.849;0.324	P;B	0.54174	0.744;0.174	T	0.11324	-1.0592	10	0.66056	D	0.02	.	5.4421	0.16515	0.1437:0.44:0.0:0.4163	.	26;2086	Q59EG0;P98160	.;PGBM_HUMAN	T	2086;36	ENSP00000363827:R2086T;ENSP00000416385:R36T	ENSP00000363827:R2086T	R	-	2	0	HSPG2	22053722	0.848000	0.29623	0.999000	0.59377	0.821000	0.46438	-0.049000	0.11924	0.050000	0.15949	0.561000	0.74099	AGG	.	.	none		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22181135	C	G	22181135	3	3	8	1	0	0	0	0	1	0	0	0	7430	681	24	4	7114	4	HSPG2	1	22181135	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	9226214	22181135	227069486	3	1527										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22181246	22181246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caatcttgaccggcggtgggCtggcatctgaggctggggcc	17	11	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:22181246C>T	ENST00000374695.3	-	49	6225	c.6146G>A	c.(6145-6147)aGc>aAc	p.S2049N	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2049	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGCGGTGGGCTGGCATCTGA	0.632																																					p.S2049N		Atlas-SNP	.											.	HSPG2	311	.	0			c.G6146A						PASS	.						41	45	43					1																	22181246		2202	4299	6501	SO:0001583	missense	3339	exon49			GGTGGGCTGGCAT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6146G>A	1.37:g.22181246C>T	ENSP00000363827:p.Ser2049Asn	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	80	33	0.4125	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	0.254	-1.004055	0.02112	.	.	ENSG00000142798	ENST00000374695	T	0.76448	-1.02	5.24	-0.118	0.13547	Immunoglobulin-like fold (1);	3.019920	0.01284	N	0.009819	T	0.65790	0.2725	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30822	-0.9965	10	0.19590	T	0.45	.	1.3651	0.02200	0.1379:0.3557:0.2686:0.2378	.	2049	P98160	PGBM_HUMAN	N	2049	ENSP00000363827:S2049N	ENSP00000363827:S2049N	S	-	2	0	HSPG2	22053833	0.620000	0.27068	0.004000	0.12327	0.010000	0.07245	0.119000	0.15626	0.023000	0.15187	0.561000	0.74099	AGC	.	.	none		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22181246	C	T	22181246	3	4	8	1	0	0	0	0	1	0	0	0	7430	797	28	2	7225	2	HSPG2	1	22181246	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	111	22181246	227069375	4	1528										
ZMYM4	9202	hgsc.bcm.edu	37	chr1	35885121	35885121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gttttaccttcaacctgagcGctcctgtgtcccgaatagcc	8	14	1	1	rs142484548		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:35885121G>A	ENST00000314607.6	+	30	4570	c.4490G>A	c.(4489-4491)cGc>cAc	p.R1497H	ZMYM4_ENST00000373297.2_Missense_Mutation_p.R1408H	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1497					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAACCTGAGCGCTCCTGTGTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18645	0.0		0.001	False		,,,				2504	0.0				p.R1497H		Atlas-SNP	.											.	ZMYM4	143	.	0			c.G4490A						PASS	.	G	HIS/ARG	0,4406		0,0,2203	116	114	115		4490	4.8	1	1	dbSNP_134	115	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZMYM4	NM_005095.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1497/1549	35885121	3,13003	2203	4300	6503	SO:0001583	missense	9202	exon30			CTGAGCGCTCCTG	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4490G>A	1.37:g.35885121G>A	ENSP00000322915:p.Arg1497His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	89	28	0.314607	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.99	3.928681	0.73327	0.0	3.49E-4	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25749	1.78;1.8	5.82	4.85	0.62838	.	0.046961	0.85682	D	0.000000	T	0.48150	0.1484	M	0.68317	2.08	0.58432	D	0.999998	D	0.71674	0.998	D	0.75020	0.985	T	0.31223	-0.9951	10	0.39692	T	0.17	-7.0451	15.7205	0.77705	0.0:0.0:0.8628:0.1372	.	1497	Q5VZL5	ZMYM4_HUMAN	H	1497;1408	ENSP00000322915:R1497H;ENSP00000362394:R1408H	ENSP00000322915:R1497H	R	+	2	0	ZMYM4	35657708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.988000	0.70579	2.752000	0.94435	0.655000	0.94253	CGC	G|1.000;A|0.000	0.000	strong		0.438	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		A	35885121	G	A	35885121	3	1	8	1	0	0	0	0	1	0	0	0	17699	1087	38	1	4608	1	ZMYM4	1	35885121	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	13703875	35885121	213365500	5	1529										
CCDC17	149483	hgsc.bcm.edu	37	chr1	46088711	46088711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cggcctcagcttgtagttctCgaatctcctgctccaggccg	10	15	3	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:46088711C>T	ENST00000528266.1	-	4	719	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CCDC17_ENST00000421127.2_Missense_Mutation_p.R182Q|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.R159Q			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	191										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TTGTAGTTCTCGAATCTCCTG	0.657																																					p.R191Q		Atlas-SNP	.											.	CCDC17	54	.	0			c.G572A						PASS	.						25	29	28					1																	46088711		2203	4300	6503	SO:0001583	missense	149483	exon4			AGTTCTCGAATCT		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.572G>A	1.37:g.46088711C>T	ENSP00000432172:p.Arg191Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	71	15	0.211268	NM_001114938	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112474	0.77210	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.18174	2.25;2.23;2.25	5.84	-1.26	0.09376	.	0.548550	0.16334	N	0.219002	T	0.15739	0.0379	L	0.29908	0.895	0.09310	N	1	D;B;B	0.76494	0.999;0.086;0.086	P;B;B	0.58660	0.843;0.014;0.014	T	0.21075	-1.0256	10	0.19147	T	0.46	-0.7778	3.7827	0.08687	0.4497:0.2992:0.0:0.2512	.	191;182;159	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	Q	182;159;191	ENSP00000389415:R182Q;ENSP00000341451:R159Q;ENSP00000432172:R191Q	ENSP00000341451:R159Q	R	-	2	0	CCDC17	45861298	0.000000	0.05858	0.244000	0.24202	0.135000	0.20990	-0.186000	0.09670	0.080000	0.16959	0.561000	0.74099	CGA	.	.	none		0.657	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		T	46088711	C	T	46088711	3	4	8	1	0	0	0	0	1	0	0	0	2793	884	31	1	1336	1	CCDC17	1	46088711	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	10203590	46088711	203161910	6	1530										
CCBL2	56267	hgsc.bcm.edu	37	chr1	89414923	89414923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aacattctgggtcatccatgCgcttgatgtcaatccagaaa	8	10	3	2	rs377683877		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:89414923C>A	ENST00000260508.4	-	11	1329	c.992G>T	c.(991-993)cGc>cTc	p.R331L	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.R297L	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	331					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GTCATCCATGCGCTTGATGTC	0.363																																					p.R331L		Atlas-SNP	.											CCBL2_ENST00000370491,rectum,carcinoma,0,2	CCBL2	138	2	0			c.G992T						scavenged	.						72	67	69					1																	89414923		2203	4300	6503	SO:0001583	missense	56267	exon11			TCCATGCGCTTGA	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.992G>T	1.37:g.89414923C>A	ENSP00000260508:p.Arg331Leu	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	150	3	0.02	NM_001008661	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	8.500	0.864135	0.17250	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.90324	-2.65;-2.65	5.34	4.42	0.53409	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.170503	0.51477	D	0.000092	T	0.73560	0.3602	N	0.25201	0.72	0.80722	D	1	B	0.23806	0.091	B	0.21546	0.035	T	0.70245	-0.4925	10	0.10636	T	0.68	-43.8821	14.2692	0.66140	0.0:0.9268:0.0:0.0732	.	331	Q6YP21	KAT3_HUMAN	L	297;331	ENSP00000359522:R297L;ENSP00000260508:R331L	ENSP00000260508:R331L	R	-	2	0	CCBL2	89187511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.523000	0.45580	2.515000	0.84797	0.467000	0.42956	CGC	.	.	none		0.363	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		A	89414923	C	A	89414923	3	1	8	1	0	0	0	0	1	0	0	0	2733	768	27	4	388	4	CCBL2	1	89414923	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	43326212	89414923	159835698	7	1531										
NBPF16	284565	hgsc.bcm.edu	37	chr1	148756518	148756518	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tagatgttattcgactcagtCaatgtactttgaactacctg	7	8	2	2	rs587717879	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:148756518C>T	ENST00000417839.1	+	16	2037	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		616	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S616L(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					TCGACTCAGTCAATGTACTTT	0.443													.|||	2173	0.433906	0.3903	0.4654	5008	,	,		8010	0.4653		0.4483	False		,,,				2504	0.4233				p.S616L		Atlas-SNP	.											NBPF16,NS,other,0,1	NBPF16	7	1	1	Substitution - Missense(1)	pancreas(1)	c.C1847T						scavenged	.						37	22	27					1																	148756518		876	1641	2517	SO:0001583	missense	728936	exon16			CTCAGTCAATGTA																												ENST00000417839.1:c.1847C>T	1.37:g.148756518C>T	ENSP00000395369:p.Ser616Leu	Somatic	407	13	0.031941		WXS	Illumina HiSeq	Phase_I	319	16	0.0501567	NM_001102663	A8MPT6	Missense_Mutation	SNP	ENST00000417839.1	37	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.247865	0.22880	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	T	0.10477	2.87	0.109	0.109	0.14578	DUF1220 (2);	.	.	.	.	T	0.14527	0.0351	M	0.73962	2.25	0.09310	N	1	P;D	0.63880	0.698;0.993	B;D	0.71414	0.338;0.973	T	0.04386	-1.0955	8	0.72032	D	0.01	.	.	.	.	.	616;426	Q5SXJ2;B4DRP3	NBPFG_HUMAN;.	L	616	ENSP00000395369:S616L	ENSP00000254372:S616L	S	+	2	0	NBPF16	147023142	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.635000	0.24629	0.181000	0.19994	0.184000	0.17185	TCA	T|1.000;|0.000	1.000	weak		0.443	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1			T	148756518	C	T	148756518	3	4	8	1	0	0	0	0	1	0	0	0	10196	838	29	2	3978	2	NBPF16	1	148756518	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	59341595	148756518	100494103	8	1532										
FLG	2312	hgsc.bcm.edu	37	chr1	152279786	152279786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cgaccctgagtgcctggagcCgtctcctgattgttcatcgt	11	13	2	2	rs200630144		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:152279786C>T	ENST00000368799.1	-	3	7611	c.7576G>A	c.(7576-7578)Ggc>Agc	p.G2526S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2526	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGGAGCCGTCTCCTGAT	0.602									Ichthyosis																												p.G2526S		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G7576A						scavenged	.						314	306	308					1																	152279786		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGAGCCGTCTCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7576G>A	1.37:g.152279786C>T	ENSP00000357789:p.Gly2526Ser	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	191	4	0.0209424	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467746	0.26335	.	.	ENSG00000143631	ENST00000368799	T	0.00824	5.65	2.49	-0.0536	0.13817	.	.	.	.	.	T	0.00328	0.0010	M	0.68952	2.095	0.09310	N	1	B	0.28760	0.221	B	0.25140	0.058	T	0.47873	-0.9083	9	0.06099	T	0.92	.	4.5427	0.12066	0.0:0.3463:0.0:0.6537	.	2526	P20930	FILA_HUMAN	S	2526	ENSP00000357789:G2526S	ENSP00000357789:G2526S	G	-	1	0	FLG	150546410	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.598000	0.05706	-0.143000	0.11334	0.306000	0.20318	GGC	C|0.999;T|0.001	0.001	weak		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279786	C	T	152279786	3	4	8	1	0	0	0	0	1	0	0	0	5922	652	23	1	4613	1	FLG	1	152279786	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	3523268	152279786	96970835	9	1533										
TTC24	164118	hgsc.bcm.edu	37	chr1	156551615	156551625	+	Frame_Shift_Del	DEL	GGGAGAAGCCT	GGGAGAAGCCT	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	taccagccacagggtgaccaGggagaagcctgggcaaaaat					rs576203714	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	GGGAGAAGCCT	GGGAGAAGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:156551615_156551625delGGGAGAAGCCT	ENST00000368237.3	+	1	459_469	c.459_469delGGGAGAAGCCT	c.(457-471)cagggagaagcctggfs	p.GEAW154fs	TTC24_ENST00000368236.3_Frame_Shift_Del_p.GEAW154fs			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	154										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTGACCAGGGAGAAGCCTGGGCAAAAAT	0.611																																					p.153_156del		Pindel,Atlas-Indel	.											.	TTC24	46	.	0			c.458_468del						PASS	.																																			SO:0001589	frameshift_variant	164118	exon2			.		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.459_469delGGGAGAAGCCT	1.37:g.156551615_156551625delGGGAGAAGCCT	ENSP00000357220:p.Gly154fs	Somatic	87	.	.		WXS	Illumina HiSeq	Phase_I	69	13	0.188	NM_001105669	Q5T3H7	Frame_Shift_Del	DEL	ENST00000368237.3	37	CCDS53379.1																																																																																			.	.	none		0.611	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		-	156551625	GGGAGAAGCCT	-	156551615	7	5	8	1	0	1	0	1	0	0	0	0	16689	991	35	0	461	0	TTC24	1	156551615	Frame_Shift_Del	DEL	GGGAGAAGCCT	TCGA-FA-A82F-01A-11D-A382-10	4271829	156551615	92699006	10	1534										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173552696	173552696	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgaaaatttccaaaaaaaaTtgatgcgatgctacaaatga	6	7	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:173552696T>A	ENST00000367714.3	-	6	1011	c.589A>T	c.(589-591)Att>Ttt	p.I197F	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95F	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	197					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CCAAAAAAAATTGATGCGATG	0.294																																					p.I197F		Atlas-SNP	.											SLC9A11,colon,carcinoma,0,1	.	.	1	0			c.A589T						scavenged	.						53	58	56					1																	173552696		2203	4298	6501	SO:0001583	missense	284525	exon6			AAAAAATTGATGC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.589A>T	1.37:g.173552696T>A	ENSP00000356687:p.Ile197Phe	Somatic	346	1	0.00289017		WXS	Illumina HiSeq	Phase_I	363	7	0.0192837	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591615	0.46214	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13307	2.6;2.6	5.37	3.02	0.34903	Cation/H+ exchanger (1);	0.369542	0.23053	N	0.052475	T	0.06096	0.0158	L	0.47716	1.5	0.09310	N	1	P	0.37101	0.582	B	0.42343	0.384	T	0.19647	-1.0299	10	0.87932	D	0	-7.9434	6.8038	0.23766	0.0:0.2479:0.0:0.7521	.	197	Q5TAH2	S9A11_HUMAN	F	197;95	ENSP00000356687:I197F;ENSP00000445437:I95F	ENSP00000356687:I197F	I	-	1	0	SLC9A11	171819319	0.028000	0.19301	0.002000	0.10522	0.000000	0.00434	0.327000	0.19663	0.345000	0.23873	-1.162000	0.01777	ATT	.	.	none		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		A	173552696	T	A	173552696	3	1	8	1	0	0	0	0	1	0	0	0	14711	1493	52	5	2877	5	SLC9A11	1	173552696	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	17001081	173552696	75697925	11	1535										
FAM5C	339479	hgsc.bcm.edu	37	chr1	190423955	190423955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	acccagcaatgaagactcagTgctatccactcccatagagc	7	14	1	3	rs190123682		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:190423955T>C	ENST00000367462.3	-	2	297	c.66A>G	c.(64-66)gcA>gcG	p.A22A	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	22					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)											GAAGACTCAGTGCTATCCACT	0.512																																					p.A22A		Atlas-SNP	.											.	FAM5C	343	.	0			c.A66G						PASS	.						82	80	81					1																	190423955		2203	4300	6503	SO:0001819	synonymous_variant	339479	exon2			ACTCAGTGCTATC	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.66A>G	1.37:g.190423955T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	94	29	0.308511	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																			T|0.999;G|0.001	.	alt		0.512	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		C	190423955	T	C	190423955	2	2	8	1	0	0	0	0	0	0	0	1	5594	1683	59	2		2	FAM5C	1	190423955	Silent	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	16871259	190423955	58826666	12	1536										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186947	203186947	+	Missense_Mutation	SNP	G	G	C													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caaagtcatctaagtccagtGcccagaccatggccccgccc					rs201682373	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203186947G>C	ENST00000367229.1	-	10	1110	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	CHIT1_ENST00000255427.3_Missense_Mutation_p.A340G|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.A350G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	359					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TAAGTCCAGTGCCCAGACCAT	0.637																																					p.A359G		Atlas-SNP	.											CHIT1,NS,carcinoma,0,1	CHIT1	61	1	0			c.C1076G						PASS	.						60	52	55					1																	203186947		2203	4300	6503	SO:0001583	missense	1118	exon10			TCCAGTGCCCAGA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1076C>G	1.37:g.203186947G>C	ENSP00000356198:p.Ala359Gly	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	35	13	0.371429	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728517	0.15507	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	4.57	0.302	0.15786	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.729039	0.11613	N	0.546569	T	0.10035	0.0246	M	0.85630	2.765	0.09310	N	1	B;B	0.27853	0.191;0.016	B;B	0.29176	0.099;0.04	T	0.34079	-0.9843	10	0.87932	D	0	-8.5687	2.2813	0.04115	0.1816:0.1509:0.5123:0.1553	.	350;359	G5EA51;Q13231	.;CHIT1_HUMAN	G	359;340;350	ENSP00000356198:A359G;ENSP00000255427:A340G;ENSP00000438078:A350G	ENSP00000255427:A340G	A	-	2	0	CHIT1	201453570	0.150000	0.22732	0.000000	0.03702	0.071000	0.16799	2.681000	0.46926	-0.144000	0.11314	0.563000	0.77884	GCA	G|0.988;C|0.012	0.012	strong		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		C	203186947	G	C	203186947	3	2	8	1	0	0	0	0	1	0	0	0	3346	1319	46	4	332	4	CHIT1	1	203186947	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	12762992	203186947	46063674	13	1537	34	2								
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agtcatctaagtccagtgccCagaccatggccccgcccagt					rs201320385|rs3831317|rs150192398	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		Atlas-SNP	.											CHIT1,colon,carcinoma,0,2	CHIT1	61	2	0			c.G1073A						PASS	.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011	0.011	strong		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	8	1	0	0	0	0	0	1	0	0	3346	595	21	2	335	2	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	3	203186950	46063671	14	1538	34	2								
BTG2	7832	hgsc.bcm.edu	37	chr1	203274810	203274810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcctctccagcctcctgaggAcccggggctgcgtgagcgag	14	15	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203274810A>C	ENST00000290551.4	+	1	147	c.76A>C	c.(76-78)Acc>Ccc	p.T26P	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	26					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCCTGAGGACCCGGGGCTG	0.706																																					p.T26P		Atlas-SNP	.											.	BTG2	16	.	0			c.A76C						PASS	.						16	16	16					1																	203274810		2168	4266	6434	SO:0001583	missense	7832	exon1			CTGAGGACCCGGG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.76A>C	1.37:g.203274810A>C	ENSP00000290551:p.Thr26Pro	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	89	24	0.269663	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135399	0.56828	.	.	ENSG00000159388	ENST00000290551	T	0.23950	1.88	4.66	4.66	0.58398	Anti-proliferative protein (3);	0.279124	0.30085	N	0.010460	T	0.34193	0.0889	M	0.79805	2.47	0.42075	D	0.991229	B	0.30193	0.272	B	0.32724	0.151	T	0.26744	-1.0094	10	0.48119	T	0.1	-24.6279	13.0384	0.58885	1.0:0.0:0.0:0.0	.	26	P78543	BTG2_HUMAN	P	26	ENSP00000290551:T26P	ENSP00000290551:T26P	T	+	1	0	BTG2	201541433	1.000000	0.71417	0.988000	0.46212	0.822000	0.46500	5.957000	0.70323	1.962000	0.57031	0.391000	0.25812	ACC	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		C	203274810	A	C	203274810	3	2	8	1	0	0	0	0	1	0	0	0	1554	275	10	5	78	5	BTG2	1	203274810	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	87860	203274810	45975811	15	1539			1	10		4	3	1431	N	G_AA_A	4.029886e-05
BTG2	7832	hgsc.bcm.edu	37	chr1	203274836	203274836	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggctgcgtgagcgagcagagGcttaaggtcttcagcggggc	18	9	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203274836G>C	ENST00000290551.4	+	1	173	c.102G>C	c.(100-102)agG>agC	p.R34S	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	34					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCGAGCAGAGGCTTAAGGTCT	0.716																																					p.R34S		Atlas-SNP	.											.	BTG2	16	.	0			c.G102C						PASS	.						15	16	15					1																	203274836		2144	4202	6346	SO:0001583	missense	7832	exon1			GCAGAGGCTTAAG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.102G>C	1.37:g.203274836G>C	ENSP00000290551:p.Arg34Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	72	17	0.236111	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406597	0.62399	.	.	ENSG00000159388	ENST00000290551	T	0.22743	1.94	4.66	-6.66	0.01789	Anti-proliferative protein (3);	0.165673	0.37761	N	0.001941	T	0.18551	0.0445	L	0.48362	1.52	0.38784	D	0.954828	P	0.38922	0.651	B	0.40329	0.326	T	0.03852	-1.0998	10	0.66056	D	0.02	-8.3253	16.012	0.80409	0.156:0.0:0.844:0.0	.	34	P78543	BTG2_HUMAN	S	34	ENSP00000290551:R34S	ENSP00000290551:R34S	R	+	3	2	BTG2	201541459	0.998000	0.40836	0.005000	0.12908	0.842000	0.47809	0.428000	0.21395	-1.534000	0.01743	-0.362000	0.07510	AGG	.	.	none		0.716	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		C	203274836	G	C	203274836	3	2	8	1	0	0	0	0	1	0	0	0	1554	1194	42	4	104	4	BTG2	1	203274836	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	26	203274836	45975785	16	1540			1	10		4	3	1431	N	G_AA_A	4.029886e-05
BTG2	7832	hgsc.bcm.edu	37	chr1	203276238	203276238	+	Missense_Mutation	SNP	A	A	G													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcctgtctccacagagcactAcaaacaccactggtttcccg							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203276238A>G	ENST00000290551.4	+	2	220	c.149A>G	c.(148-150)tAc>tGc	p.Y50C	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	50					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACAGAGCACTACAAACACCAC	0.597																																					p.Y50C		Atlas-SNP	.											.	BTG2	16	.	0			c.A149G						PASS	.						39	41	40					1																	203276238		2203	4300	6503	SO:0001583	missense	7832	exon2			AGCACTACAAACA		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.149A>G	1.37:g.203276238A>G	ENSP00000290551:p.Tyr50Cys	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	51	9	0.176471	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953961	0.73902	.	.	ENSG00000159388	ENST00000290551	T	0.34275	1.37	4.53	4.53	0.55603	Anti-proliferative protein (4);	0.000000	0.64402	D	0.000003	T	0.63733	0.2536	M	0.87269	2.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.71062	-0.4701	10	0.87932	D	0	-11.3369	12.8211	0.57694	1.0:0.0:0.0:0.0	.	50	P78543	BTG2_HUMAN	C	50	ENSP00000290551:Y50C	ENSP00000290551:Y50C	Y	+	2	0	BTG2	201542861	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.727000	0.91480	1.911000	0.55334	0.260000	0.18958	TAC	.	.	none		0.597	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		G	203276238	A	G	203276238	3	3	8	1	0	0	0	0	1	0	0	0	1554	391	14	2	155	2	BTG2	1	203276238	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	1402	203276238	45974383	17	1541	35	2	1	10		4	3	1431	N	G_AA_A	4.029886e-05
BTG2	7832	hgsc.bcm.edu	37	chr1	203276240	203276241	+	Frame_Shift_Del	DEL	AA	AA	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctgtctccacagagcactacAaacaccactggtttcccgaa							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:203276240_203276241delAA	ENST00000290551.4	+	2	222_223	c.151_152delAA	c.(151-153)aaafs	p.K51fs	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	51					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGAGCACTACAAACACCACTGG	0.594																																					p.50_51del		Atlas-Indel	.											.	BTG2	16	.	0			c.150_151del						PASS	.																																			SO:0001589	frameshift_variant	7832	exon2			.		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.151_152delAA	1.37:g.203276240_203276241delAA	ENSP00000290551:p.Lys51fs	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	52	10	0.192308	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Frame_Shift_Del	DEL	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.594	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		-	203276241	AA	-	203276240	7	5	8	1	0	1	0	1	0	0	0	0	1554	131	5	0	157	0	BTG2	1	203276240	Frame_Shift_Del	DEL	AA	TCGA-FA-A82F-01A-11D-A382-10	2	203276240	45974381	18	1542	35	2	1	10		4	3	1431	N	G_AA_A	4.029886e-05
TMEM206	55248	hgsc.bcm.edu	37	chr1	212558714	212558714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgtcagaggaggaatgacctCgtaatggtgcttacagctga	13	7	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:212558714C>T	ENST00000261455.4	-	4	534	c.397G>A	c.(397-399)Gag>Aag	p.E133K	TMEM206_ENST00000535273.1_Missense_Mutation_p.E194K|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	133						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GGAATGACCTCGTAATGGTGC	0.542																																					p.E194K		Atlas-SNP	.											.	TMEM206	41	.	0			c.G580A						PASS	.						123	114	117					1																	212558714		2203	4300	6503	SO:0001583	missense	55248	exon5			TGACCTCGTAATG	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.397G>A	1.37:g.212558714C>T	ENSP00000261455:p.Glu133Lys	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	97	29	0.298969	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739315	0.69304	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.43	4.52	0.55395	.	0.094468	0.64402	D	0.000001	T	0.25975	0.0633	N	0.14661	0.345	0.37847	D	0.929241	B;P	0.49253	0.017;0.921	B;B	0.30251	0.004;0.113	T	0.30679	-0.9970	9	0.62326	D	0.03	-12.0706	14.0882	0.64973	0.0:0.9274:0.0:0.0725	.	194;133	B7Z4D6;Q9H813	.;TM206_HUMAN	K	133;194	.	ENSP00000261455:E133K	E	-	1	0	TMEM206	210625337	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	3.406000	0.52637	1.284000	0.44531	0.655000	0.94253	GAG	.	.	none		0.542	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		T	212558714	C	T	212558714	3	4	8	1	0	0	0	0	1	0	0	0	16128	893	31	1	675	1	TMEM206	1	212558714	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	9282474	212558714	36691907	19	1543										
ESRRG	2104	hgsc.bcm.edu	37	chr1	216680465	216680465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cagcttcataatcctgcagcGcttcatgtaagacatcctga	7	12	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:216680465G>T	ENST00000408911.3	-	7	1346	c.1193C>A	c.(1192-1194)gCg>gAg	p.A398E	ESRRG_ENST00000493603.1_Missense_Mutation_p.A375E|ESRRG_ENST00000360012.3_Missense_Mutation_p.A375E|ESRRG_ENST00000366937.1_Missense_Mutation_p.A410E|ESRRG_ENST00000493748.1_Missense_Mutation_p.A375E|ESRRG_ENST00000366940.2_Missense_Mutation_p.A375E|ESRRG_ENST00000366938.2_Missense_Mutation_p.A375E|ESRRG_ENST00000463665.1_Missense_Mutation_p.A336E|ESRRG_ENST00000487276.1_Missense_Mutation_p.A375E|ESRRG_ENST00000361525.3_Missense_Mutation_p.A375E|ESRRG_ENST00000391890.3_Missense_Mutation_p.A382E|ESRRG_ENST00000359162.2_Missense_Mutation_p.A375E|ESRRG_ENST00000361395.2_Missense_Mutation_p.A375E	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	398					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCCTGCAGCGCTTCATGTAA	0.473																																					p.A410E		Atlas-SNP	.											.	ESRRG	111	.	0			c.C1229A						PASS	.						108	97	100					1																	216680465		2203	4300	6503	SO:0001583	missense	2104	exon8			TGCAGCGCTTCAT	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1193C>A	1.37:g.216680465G>T	ENSP00000386171:p.Ala398Glu	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	171	52	0.304094	NM_001243518	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493119	0.84962	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99391	1.0925	10	0.87932	D	0	.	19.652	0.95819	0.0:0.0:1.0:0.0	.	336;410;398	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	E	375;375;410;398;375;375;375;375;375;382;336;375;375;375	ENSP00000355225:A375E;ENSP00000355907:A375E;ENSP00000355904:A410E;ENSP00000386171:A398E;ENSP00000352077:A375E;ENSP00000354584:A375E;ENSP00000355905:A375E;ENSP00000353108:A375E;ENSP00000419594:A375E;ENSP00000375761:A382E;ENSP00000418629:A336E;ENSP00000419155:A375E;ENSP00000417374:A375E	ENSP00000346386:A375E	A	-	2	0	ESRRG	214747088	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.656000	0.90262	0.561000	0.74099	GCG	.	.	none		0.473	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		T	216680465	G	T	216680465	3	4	8	1	0	0	0	0	1	0	0	0	5262	1087	38	4	187	4	ESRRG	1	216680465	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	4121751	216680465	32570156	20	1544										
EPHX1	2052	hgsc.bcm.edu	37	chr1	226016540	226016540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agatgggtggtgggggccagGcacgaggtccgcagccaggg	21	9	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:226016540G>T	ENST00000366837.4	+	2	306	c.110G>T	c.(109-111)gGc>gTc	p.G37V	EPHX1_ENST00000272167.5_Missense_Mutation_p.G37V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	37					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TGGGGGCCAGGCACGAGGTCC	0.592																																					p.G37V		Atlas-SNP	.											.	EPHX1	57	.	0			c.G110T						PASS	.						45	41	43					1																	226016540		2203	4300	6503	SO:0001583	missense	2052	exon2			GGCCAGGCACGAG	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.110G>T	1.37:g.226016540G>T	ENSP00000355802:p.Gly37Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	109	29	0.266055	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006109	0.54361	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.19250	2.47;3.52;2.16;3.52	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55623	-0.8112	10	0.72032	D	0.01	-4.5382	18.2926	0.90135	0.0:0.0:1.0:0.0	.	37	P07099	HYEP_HUMAN	V	37	ENSP00000398491:G37V;ENSP00000272167:G37V;ENSP00000408469:G37V;ENSP00000355802:G37V	ENSP00000272167:G37V	G	+	2	0	EPHX1	224083163	1.000000	0.71417	0.058000	0.19502	0.009000	0.06853	9.481000	0.97933	2.316000	0.78162	0.462000	0.41574	GGC	.	.	none		0.592	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		T	226016540	G	T	226016540	3	4	8	1	0	0	0	0	1	0	0	0	5179	1203	42	4	112	4	EPHX1	1	226016540	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	9336075	226016540	23234081	21	1545										
TRIM11	81559	hgsc.bcm.edu	37	chr1	228594049	228594049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cgccatctcggccatcttagCaagcgggcggttgggccgca	14	14	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:228594049C>T	ENST00000284551.6	-	1	492	c.214G>A	c.(214-216)Gct>Act	p.A72T	TRIM11_ENST00000366699.3_Missense_Mutation_p.A72T|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000493030.2_5'Flank	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	72					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCCATCTTAGCAAGCGGGCGG	0.761																																					p.A72T		Atlas-SNP	.											.	TRIM11	38	.	0			c.G214A						PASS	.						4	5	5					1																	228594049		1955	3850	5805	SO:0001583	missense	81559	exon1			TCTTAGCAAGCGG	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.214G>A	1.37:g.228594049C>T	ENSP00000284551:p.Ala72Thr	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	29	10	0.344828	NM_145214	A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843037	0.51057	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.17528	2.27;2.27	4.73	2.76	0.32466	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.39475	N	0.001359	T	0.16685	0.0401	L	0.52206	1.635	0.24507	N	0.994226	B;B;B	0.34313	0.01;0.448;0.002	B;B;B	0.41374	0.04;0.355;0.005	T	0.13019	-1.0525	10	0.40728	T	0.16	.	3.8353	0.08891	0.1669:0.5793:0.1621:0.0917	.	72;72;72	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	T	72	ENSP00000284551:A72T;ENSP00000355660:A72T	ENSP00000284551:A72T	A	-	1	0	TRIM11	226660672	0.000000	0.05858	0.962000	0.40283	0.979000	0.70002	-0.146000	0.10250	0.476000	0.27440	0.491000	0.48974	GCT	.	.	none		0.761	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		T	228594049	C	T	228594049	3	4	8	1	0	0	0	0	1	0	0	0	16484	710	25	2	1216	2	TRIM11	1	228594049	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2577509	228594049	20656572	22	1546										
NID1	4811	hgsc.bcm.edu	37	chr1	236156994	236156994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtgccctccacctcgcggccGtcgcgatccacgcaccagca	10	20	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:236156994G>A	ENST00000264187.6	-	13	2788	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D	NID1_ENST00000366595.3_Silent_p.D769D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	902	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCTCGCGGCCGTCGCGATCCA	0.701																																					p.D902D		Atlas-SNP	.											.	NID1	196	.	0			c.C2706T						PASS	.						20	20	20					1																	236156994		2199	4295	6494	SO:0001819	synonymous_variant	4811	exon13			GCGGCCGTCGCGA	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2706C>T	1.37:g.236156994G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	89	34	0.382022	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																			.	.	none		0.701	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		A	236156994	G	A	236156994	2	1	8	1	0	0	0	0	0	0	0	1	10414	1136	40	1		1	NID1	1	236156994	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	7562945	236156994	13093627	23	1547										
FAM36A	116228	hgsc.bcm.edu	37	chr1	245006464	245006464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctgaaagaaaacacaacggcAgcagcagcaattgaacaatc	8	10	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:245006464A>G	ENST00000411948.2	+	4	736	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.S127G	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	115						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S115G(1)									ACACAACGGCAGCAGCAGCAA	0.363																																					p.S115G		Atlas-SNP	.											FAM36A,bladder,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	urinary_tract(1)	c.A343G						scavenged	.						58	72	67					1																	245006464		2198	4300	6498	SO:0001583	missense	116228	exon4			AACGGCAGCAGCA	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.343A>G	1.37:g.245006464A>G	ENSP00000406327:p.Ser115Gly	Somatic	315	1	0.0031746		WXS	Illumina HiSeq	Phase_I	291	7	0.024055	NM_198076	Q8WV86	Missense_Mutation	SNP	ENST00000411948.2	37	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383237	0.25031	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	0.845	0.18950	.	0.823023	0.11980	N	0.510914	T	0.21962	0.0529	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	9	0.23891	T	0.37	-0.708	7.9427	0.29967	0.516:0.0:0.484:0.0	.	115	Q5RI15	FA36A_HUMAN	G	115;127	.	ENSP00000355486:S127G	S	+	1	0	FAM36A	243073087	0.029000	0.19370	0.000000	0.03702	0.028000	0.11728	2.699000	0.47077	0.109000	0.17891	-0.385000	0.06624	AGC	.	.	none		0.363	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076		G	245006464	A	G	245006464	3	3	8	1	0	0	0	0	1	0	0	0	5554	188	7	3	357	3	FAM36A	1	245006464	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	8849470	245006464	4244157	24	1548										
ZNF670	93474	hgsc.bcm.edu	37	chr1	247201146	247201146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggaacgactgaaggctttgcCacattccttacattcatagg	9	10	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:247201146C>T	ENST00000366503.2	-	4	933	c.775G>A	c.(775-777)Ggc>Agc	p.G259S		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	259					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(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGGCTTTGCCACATTCCTTA	0.388																																					p.G259S		Atlas-SNP	.											ZNF670,NS,carcinoma,+1,1	ZNF670	52	1	0			c.G775A						scavenged	.						105	106	106					1																	247201146		2203	4300	6503	SO:0001583	missense	93474	exon4			CTTTGCCACATTC		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.775G>A	1.37:g.247201146C>T	ENSP00000355459:p.Gly259Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	130	2	0.0153846	NM_033213		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125580	0.56721	.	.	ENSG00000135747	ENST00000366503	T	0.57752	0.38	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52092	0.1713	L	0.31476	0.935	0.28173	N	0.928495	D	0.63046	0.992	P	0.60173	0.87	T	0.44667	-0.9313	9	0.66056	D	0.02	.	7.0739	0.25193	0.0:0.9999:0.0:1.0E-4	.	259	Q9BS34	ZN670_HUMAN	S	259	ENSP00000355459:G259S	ENSP00000355459:G259S	G	-	1	0	ZNF670	245267769	0.923000	0.31300	0.061000	0.19648	0.149000	0.21700	1.448000	0.35112	0.604000	0.29930	0.467000	0.42956	GGC	.	.	none		0.388	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		T	247201146	C	T	247201146	3	4	8	1	0	0	0	0	1	0	0	0	18074	594	21	2	398	2	ZNF670	1	247201146	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2194682	247201146	2049475	25	1549										
OR2M5	127059	hgsc.bcm.edu	37	chr1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tactaatcctctcatgcaatGacacatcaatatttgaaaag	4	9	2	2	rs139290187	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		Atlas-SNP	.											OR2M5,NS,carcinoma,0,2	OR2M5	117	2	0			c.G571A						scavenged	.						284	272	276					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	Somatic	277	1	0.00361011		WXS	Illumina HiSeq	Phase_I	216	10	0.0462963	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.996;A|0.004	0.004	strong		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309020	G	A	248309020	3	1	8	1	0	0	0	0	1	0	0	0	11013	1290	45	2	573	2	OR2M5	1	248309020	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	1107874	248309020	941601	26	1550										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525060	248525060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccaaacatccagcactacttTgtgtggtcatttttgtggtt	8	9	1	0	rs28491677	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr1:248525060T>A	ENST00000366475.1	+	1	178	c.178T>A	c.(178-180)Tgt>Agt	p.C60S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			AGCACTACTTTGTGTGGTCAT	0.488													t|||	1477	0.294928	0.2421	0.2709	5008	,	,		20455	0.4276		0.1809	False		,,,				2504	0.364				p.C60S		Atlas-SNP	.											OR2T4,NS,carcinoma,-1,1	OR2T4	126	1	0			c.T178A						scavenged	.						176	175	175					1																	248525060		2203	4300	6503	SO:0001583	missense	127074	exon1			CTACTTTGTGTGG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.178T>A	1.37:g.248525060T>A	ENSP00000355431:p.Cys60Ser	Somatic	556	3	0.00539568		WXS	Illumina HiSeq	Phase_I	507	8	0.0157791	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	500	0.22893772893772893	101	0.20528455284552846	72	0.19889502762430938	210	0.36713286713286714	117	0.15435356200527706	t	9.676	1.147970	0.21288	.	.	ENSG00000196944	ENST00000366475	T	0.02944	4.1	3.48	2.33	0.28932	.	0.441217	0.19340	N	0.116665	T	0.00012	0.0000	N	0.00746	-1.225	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.41574	-0.9501	9	0.59425	D	0.04	.	8.6683	0.34134	0.1713:0.0:0.0:0.8287	rs28491677;rs58960769	60	Q8NH00	OR2T4_HUMAN	S	60	ENSP00000355431:C60S	ENSP00000355431:C60S	C	+	1	0	OR2T4	246591683	0.044000	0.20184	0.001000	0.08648	0.025000	0.11179	2.832000	0.48152	0.248000	0.21435	-0.510000	0.04470	TGT	T|0.787;A|0.213	0.213	strong		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525060	T	A	248525060	3	1	8	1	0	0	0	0	1	0	0	0	11027	1812	63	5	180	5	OR2T4	1	248525060	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	216040	248525060	725561	27	1551										
GFPT1	2673	hgsc.bcm.edu	37	chr2	69565092	69565092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aactccacaatctgtctcccGtgatatggaactgccaactg	7	13	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:69565092G>A	ENST00000357308.4	-	15	1598	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	GFPT1_ENST00000361060.5_Missense_Mutation_p.R456W	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	474	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCTGTCTCCCGTGATATGGAA	0.428																																					p.R474W		Atlas-SNP	.											.	GFPT1	38	.	0			c.C1420T						PASS	.						258	219	232					2																	69565092		2203	4300	6503	SO:0001583	missense	2673	exon15			TCTCCCGTGATAT		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1420C>T	2.37:g.69565092G>A	ENSP00000349860:p.Arg474Trp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	100	32	0.32	NM_001244710	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816702	0.50633	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.68624	-0.34;-0.34	5.43	-4.24	0.03777	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	H	0.99011	4.4	0.80722	D	1	B	0.24768	0.111	B	0.24155	0.051	T	0.73905	-0.3835	10	0.87932	D	0	-16.2206	15.5538	0.76173	0.0937:0.0:0.7207:0.1856	.	456	Q06210-2	.	W	474;456	ENSP00000349860:R474W;ENSP00000354347:R456W	ENSP00000349860:R474W	R	-	1	2	GFPT1	69418596	0.827000	0.29292	0.471000	0.27229	0.985000	0.73830	0.479000	0.22228	-0.841000	0.04200	-0.266000	0.10368	CGG	.	.	none		0.428	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	69565092	G	A	69565092	3	1	8	1	0	0	0	0	1	0	0	0	6345	1144	40	1	703	1	GFPT1	2	69565092	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		69565092	173634281	28	1552										
LRRTM1	347730	hgsc.bcm.edu	37	chr2	80529497	80529497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cgtagtattcctgggcagacAtggcagccatctgatgcatg	12	10	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:80529497A>G	ENST00000295057.3	-	2	2104	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T	LRRTM1_ENST00000409148.1_Missense_Mutation_p.M483T|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	483					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTGGGCAGACATGGCAGCCAT	0.542										HNSCC(69;0.2)																											p.M483T		Atlas-SNP	.											.	LRRTM1	251	.	0			c.T1448C						PASS	.						146	119	128					2																	80529497		2203	4300	6503	SO:0001583	missense	347730	exon2			GCAGACATGGCAG	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1448T>C	2.37:g.80529497A>G	ENSP00000295057:p.Met483Thr	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	103	23	0.223301	NM_178839	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	5.771	0.326657	0.10900	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.38722	1.12;1.12	5.18	5.18	0.71444	.	0.055879	0.64402	U	0.000001	T	0.21062	0.0507	N	0.03608	-0.345	0.46279	D	0.998961	B	0.12013	0.005	B	0.08055	0.003	T	0.09250	-1.0683	9	.	.	.	.	15.031	0.71708	1.0:0.0:0.0:0.0	.	483	Q86UE6	LRRT1_HUMAN	T	483	ENSP00000295057:M483T;ENSP00000386646:M483T	.	M	-	2	0	LRRTM1	80383008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.349000	0.73013	1.930000	0.55929	0.459000	0.35465	ATG	.	.	none		0.542	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		G	80529497	A	G	80529497	3	3	8	1	0	0	0	0	1	0	0	0	9039	217	8	2	124	2	LRRTM1	2	80529497	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	10964405	80529497	162669876	29	1553										
LONRF2	164832	hgsc.bcm.edu	37	chr2	100916227	100916227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caggtcaggtgcatcctccaCgtcatccggaaactgtctct	9	14	3	0	rs562655594		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:100916227C>T	ENST00000393437.3	-	5	1858	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	LONRF2_ENST00000409647.1_Missense_Mutation_p.V164M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	407							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCATCCTCCACGTCATCCGGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		12846	0.0		0.0	False		,,,				2504	0.001				p.V407M		Atlas-SNP	.											.	LONRF2	62	.	0			c.G1219A						PASS	.						93	91	92					2																	100916227		2203	4300	6503	SO:0001583	missense	164832	exon5			CCTCCACGTCATC	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1219G>A	2.37:g.100916227C>T	ENSP00000377086:p.Val407Met	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	126	40	0.31746	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	8.636	0.894790	0.17613	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85171	-1.79;-1.95	4.49	0.225	0.15325	.	1.629190	0.04000	N	0.296277	T	0.70046	0.3179	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.55761	-0.8090	10	0.31617	T	0.26	0.8737	5.3436	0.15996	0.2827:0.3821:0.0:0.3351	.	407	Q1L5Z9	LONF2_HUMAN	M	407;164	ENSP00000377086:V407M;ENSP00000386823:V164M	ENSP00000377086:V407M	V	-	1	0	LONRF2	100282659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.351000	0.07711	-0.152000	0.11156	-0.474000	0.04947	GTG	.	.	none		0.463	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		T	100916227	C	T	100916227	3	4	8	1	0	0	0	0	1	0	0	0	8895	536	19	1	1077	1	LONRF2	2	100916227	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	20386730	100916227	142283146	30	1554										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114257354	114257354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gatcccccgcgagccgggccAcccaggcaagggcacctact	12	18	0	0	rs202243377	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:114257354A>G	ENST00000306507.5	+	1	694	c.521A>G	c.(520-522)cAc>cGc	p.H174R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGCCGGGCCACCCAGGCAAG	0.632													.|||	294	0.0587061	0.0091	0.0908	5008	,	,		10222	0.1776		0.0139	False		,,,				2504	0.0266				p.H174R		Atlas-SNP	.											FOXD4L1,NS,carcinoma,0,1	FOXD4L1	48	1	0			c.A521G						scavenged	.						75	97	89					2																	114257354		2141	4139	6280	SO:0001583	missense	200350	exon1			CGGGCCACCCAGG	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.521A>G	2.37:g.114257354A>G	ENSP00000302756:p.His174Arg	Somatic	40	5	0.125		WXS	Illumina HiSeq	Phase_I	51	8	0.156863	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536728	0.27475	.	.	ENSG00000184492	ENST00000306507	D	0.95069	-3.6	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.35739	U	0.003002	T	0.78426	0.4281	N	0.00471	-1.455	0.41757	D	0.989692	B	0.14012	0.009	B	0.15052	0.012	T	0.71768	-0.4493	10	0.24483	T	0.36	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	174	Q9NU39	FX4L1_HUMAN	R	174	ENSP00000302756:H174R	ENSP00000302756:H174R	H	+	2	0	FOXD4L1	113973824	0.878000	0.30173	1.000000	0.80357	0.878000	0.50629	5.717000	0.68446	1.190000	0.43042	0.155000	0.16302	CAC	A|0.999;G|0.001	0.001	weak		0.632	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		G	114257354	A	G	114257354	3	3	8	1	0	0	0	0	1	0	0	0	6000	159	6	2	523	2	FOXD4L1	2	114257354	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	13341127	114257354	128942019	31	1555										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141571231	141571231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aataatttcacttacccatgAtggttagggctgtagctttt	8	7	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:141571231A>G	ENST00000389484.3	-	32	6325	c.5354T>C	c.(5353-5355)aTc>aCc	p.I1785T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1785					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACCCATGATGGTTAGGGC	0.368										TSP Lung(27;0.18)																											p.I1785T	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.T5354C						PASS	.						165	147	153					2																	141571231		2203	4300	6503	SO:0001583	missense	53353	exon32			CCCATGATGGTTA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5354T>C	2.37:g.141571231A>G	ENSP00000374135:p.Ile1785Thr	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	211	26	0.123223	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520516	0.64747	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.072198	0.56097	D	0.000037	D	0.90611	0.7056	M	0.72894	2.215	0.58432	D	0.999994	P	0.43094	0.799	B	0.35931	0.214	D	0.91189	0.4982	10	0.52906	T	0.07	.	16.1982	0.82046	1.0:0.0:0.0:0.0	.	1785	Q9NZR2	LRP1B_HUMAN	T	1785;1723	ENSP00000374135:I1785T	ENSP00000374135:I1785T	I	-	2	0	LRP1B	141287701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.226000	0.72624	0.533000	0.62120	ATC	.	.	none		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141571231	A	G	141571231	3	3	8	1	0	0	0	0	1	0	0	0	8955	333	12	2	8685	2	LRP1B	2	141571231	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	27313877	141571231	101628142	32	1556										
ITGA4	3676	hgsc.bcm.edu	37	chr2	182346352	182346352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agtcggagctggtcattttcGgagccagcatactaccgaag	12	10	1	0	rs148901650	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:182346352G>A	ENST00000397033.2	+	7	1212	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	261					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGTCATTTTCGGAGCCAGCAT	0.383													g|||	4	0.000798722	0.0	0.0	5008	,	,		17178	0.003		0.0	False		,,,				2504	0.001				p.R261Q		Atlas-SNP	.											ITGA4,NS,carcinoma,+1,1	ITGA4	142	1	0			c.G782A						PASS	.						62	57	59					2																	182346352		1814	4083	5897	SO:0001583	missense	3676	exon7			ATTTTCGGAGCCA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.782G>A	2.37:g.182346352G>A	ENSP00000380227:p.Arg261Gln	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.52	1.373857	0.24857	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.71341	-0.56;-0.56	5.54	2.49	0.30216	.	0.717535	0.13491	N	0.383966	T	0.51261	0.1664	N	0.21373	0.66	0.23972	N	0.996309	B;B	0.17852	0.007;0.024	B;B	0.06405	0.002;0.002	T	0.32745	-0.9895	10	0.28530	T	0.3	.	5.8849	0.18876	0.1841:0.0:0.5918:0.2241	.	261;261	E7EP60;P13612	.;ITA4_HUMAN	Q	261	ENSP00000380227:R261Q;ENSP00000233573:R261Q	ENSP00000233573:R261Q	R	+	2	0	ITGA4	182054597	0.655000	0.27376	0.213000	0.23690	0.293000	0.27360	1.099000	0.31013	0.630000	0.30394	-0.185000	0.12909	CGG	G|1.000;A|0.000	0.000	strong		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182346352	G	A	182346352	3	1	8	1	0	0	0	0	1	0	0	0	7878	1116	39	1	808	1	ITGA4	2	182346352	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	40775121	182346352	60853021	33	1557										
STK36	64320	hgsc.bcm.edu	37	chr2	219538411	219538411	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aggagctgaggaatttgcaaCgagagattgaaataatgcgg	14	4	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:219538411C>T	ENST00000295704.2	-	0	0				STK36_ENST00000392106.2_Nonsense_Mutation_p.R50*|STK36_ENST00000440309.1_Nonsense_Mutation_p.R50*|STK36_ENST00000295709.3_Nonsense_Mutation_p.R50*|STK36_ENST00000392105.3_Nonsense_Mutation_p.R50*	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATTTGCAACGAGAGATTGA	0.478																																					p.R50X		Atlas-SNP	.											.	STK36	111	.	0			c.C148T						PASS	.						81	78	79					2																	219538411		2203	4300	6503	SO:0001631	upstream_gene_variant	27148	exon3			TTGCAACGAGAGA		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538411C>T	Exception_encountered	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_015690	A8K0D6|Q53HQ5|Q9H874	Nonsense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	37	6.227986	0.97394	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	.	.	.	5.72	5.72	0.89469	.	0.000000	0.36444	N	0.002587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.345	14.7034	0.69171	0.1448:0.8552:0.0:0.0	.	.	.	.	X	50	.	ENSP00000295709:R50X	R	+	1	2	STK36	219246655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.931000	0.56529	2.717000	0.92951	0.655000	0.94253	CGA	.	.	none		0.478	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		T	219538411	C	T	219538411	1	4	8	0	1	0	0	0	0	0	0	0	15301	528	19	1		1	STK36	2	219538411	5'Flank	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	37192059	219538411	23660962	34	1558										
DES	1674	hgsc.bcm.edu	37	chr2	220283213	220283213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggcctactcgtccagccagcGcgtgtcctcctaccgccgca	10	19	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:220283213G>A	ENST00000373960.3	+	1	115	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	10	Head.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCAGCCAGCGCGTGTCCTCC	0.751																																					p.R10H		Atlas-SNP	.											.	DES	53	.	0			c.G29A						PASS	.						9	11	11					2																	220283213		1907	3736	5643	SO:0001583	missense	1674	exon1			GCCAGCGCGTGTC	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.29G>A	2.37:g.220283213G>A	ENSP00000363071:p.Arg10His	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	85	18	0.211765	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780499	0.70222	.	.	ENSG00000175084	ENST00000373960	D	0.83506	-1.73	5.12	4.24	0.50183	Intermediate filament head, DNA-binding domain (1);	0.124060	0.34603	N	0.003830	T	0.81103	0.4753	L	0.57536	1.79	0.41720	D	0.989502	D	0.53885	0.963	B	0.42593	0.392	D	0.83492	0.0070	10	0.62326	D	0.03	.	14.9895	0.71374	0.0:0.0:0.8562:0.1438	.	10	P17661	DESM_HUMAN	H	10	ENSP00000363071:R10H	ENSP00000363071:R10H	R	+	2	0	DES	219991457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	1.283000	0.44513	0.555000	0.69702	CGC	.	.	none		0.751	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		A	220283213	G	A	220283213	3	1	8	1	0	0	0	0	1	0	0	0	4449	1087	38	1	31	1	DES	2	220283213	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	744802	220283213	22916160	35	1559										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235951281	235951281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	catcaagccttccgggcaaaGgaggtttctcaagaagaacg	11	10	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:235951281G>A	ENST00000409212.1	+	4	2375	c.1868G>A	c.(1867-1869)aGg>aAg	p.R623K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R623K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R623K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	623					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGCAAAGGAGGTTTCTC	0.567																																					p.R623K		Atlas-SNP	.											SH3BP4,right_upper_lobe,carcinoma,+1,2	SH3BP4	109	2	0			c.G1868A						scavenged	.						58	56	57					2																	235951281		2203	4300	6503	SO:0001583	missense	23677	exon4			GGCAAAGGAGGTT	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1868G>A	2.37:g.235951281G>A	ENSP00000386862:p.Arg623Lys	Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	76	29	0.381579	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621960	0.66787	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.10005	2.92;2.92;2.92	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	L	0.36672	1.1	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.00839	-1.1545	10	0.37606	T	0.19	-42.3967	17.0389	0.86483	0.0:0.0:1.0:0.0	.	623;623	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	623	ENSP00000375867:R623K;ENSP00000386862:R623K;ENSP00000340237:R623K	ENSP00000340237:R623K	R	+	2	0	SH3BP4	235616020	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	9.458000	0.97634	2.354000	0.79902	0.655000	0.94253	AGG	.	.	none		0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235951281	G	A	235951281	3	1	8	1	0	0	0	0	1	0	0	0	14246	1000	35	2	1874	2	SH3BP4	2	235951281	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	15668068	235951281	7248092	36	1560										
PRR21	643905	hgsc.bcm.edu	37	chr2	240981683	240981683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agggccgtgggtgaagaggcAtggacgaagggccgtgggtg	22	6	0	2	rs554303020	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr2:240981683A>G	ENST00000408934.1	-	1	716	c.717T>C	c.(715-717)caT>caC	p.H239H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	239	Pro-rich.							p.H239H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGACGAAGG	0.647													a|||	2075	0.414337	0.4402	0.3804	5008	,	,		9005	0.5744		0.333	False		,,,				2504	0.3221				p.H239H		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	2	Substitution - coding silent(2)	stomach(2)	c.T717C						scavenged	.						1	1	1					2																	240981683		180	470	650	SO:0001819	synonymous_variant	643905	exon1			AGAGGCATGGACG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.717T>C	2.37:g.240981683A>G		Somatic	6	6	1		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			.	.	none		0.647	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240981683	A	G	240981683	2	3	8	1	0	0	0	0	0	0	0	1	12592	214	8	2		2	PRR21	2	240981683	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	5030402	240981683	2217690	37	1561										
HRH1	3269	hgsc.bcm.edu	37	chr3	11302022	11302022	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgctggatcccttatttcatCttcttcatggtcattgcctt	6	11	5	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:11302022C>A	ENST00000397056.1	+	3	1490	c.1299C>A	c.(1297-1299)atC>atA	p.I433I	HRH1_ENST00000431010.2_Silent_p.I433I|HRH1_ENST00000438284.2_Silent_p.I433I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	433					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTATTTCATCTTCTTCATGG	0.478																																					p.I433I		Atlas-SNP	.											HRH1,NS,lymphoid_neoplasm,+1,1	HRH1	58	1	0			c.C1299A						PASS	.						242	248	246					3																	11302022		2203	4300	6503	SO:0001819	synonymous_variant	3269	exon3			TTTCATCTTCTTC		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1299C>A	3.37:g.11302022C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	26	0.268041	NM_000861	A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	CCDS2604.1																																																																																			.	.	none		0.478	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			A	11302022	C	A	11302022	2	1	8	1	0	0	0	0	0	0	0	1	7355	903	32	4		4	HRH1	3	11302022	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10		11302022	186720408	38	1562										
TUSC2	11334	hgsc.bcm.edu	37	chr3	50365502	50365502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgaggcgaagggccacaggCcccgagctttggacccgctg	15	15	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:50365502C>T	ENST00000232496.4	-	1	172	c.29G>A	c.(28-30)gGc>gAc	p.G10D	TUSC2_ENST00000462137.1_5'UTR	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2	10					cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCCACAGGCCCCGAGCTTT	0.731																																					p.G10D		Atlas-SNP	.											.	TUSC2	4	.	0			c.G29A						PASS	.						2	3	2					3																	50365502		1520	3225	4745	SO:0001583	missense	11334	exon1			CACAGGCCCCGAG	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877	ENST00000232496.4:c.29G>A	3.37:g.50365502C>T	ENSP00000232496:p.Gly10Asp	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	24	12	0.5	NM_007275	B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	C	36	5.870022	0.97049	.	.	ENSG00000114383	ENST00000232496	.	.	.	5.55	5.55	0.83447	.	0.286088	0.37906	N	0.001889	T	0.76463	0.3991	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76099	-0.3083	9	0.49607	T	0.09	-8.9261	17.0031	0.86385	0.0:1.0:0.0:0.0	.	10	O75896	TUSC2_HUMAN	D	10	.	ENSP00000232496:G10D	G	-	2	0	TUSC2	50340506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.725000	0.61979	2.609000	0.88269	0.563000	0.77884	GGC	.	.	none		0.731	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275		T	50365502	C	T	50365502	3	4	8	1	0	0	0	0	1	0	0	0	16774	739	26	2	315	2	TUSC2	3	50365502	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	39063480	50365502	147656928	39	1563										
PRKCD	5580	hgsc.bcm.edu	37	chr3	53221396	53221396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgtgtggactgcagtttctaCacagcaagggcatcatttac	10	9	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:53221396C>T	ENST00000394729.2	+	14	1721	c.1393C>T	c.(1393-1395)Cac>Tac	p.H465Y	PRKCD_ENST00000330452.3_Missense_Mutation_p.H465Y	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCAGTTTCTACACAGCAAGGG	0.562																																					p.H465Y		Atlas-SNP	.											.	PRKCD	124	.	0			c.C1393T						PASS	.						122	119	120					3																	53221396		2203	4300	6503	SO:0001583	missense	5580	exon14			TTTCTACACAGCA		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1393C>T	3.37:g.53221396C>T	ENSP00000378217:p.His465Tyr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	113	42	0.371681	NM_212539	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100681	0.94245	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	D;D	0.83755	-1.76;-1.76	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95242	0.8352	10	0.87932	D	0	.	18.1017	0.89508	0.0:1.0:0.0:0.0	.	465	Q05655	KPCD_HUMAN	Y	465	ENSP00000378217:H465Y;ENSP00000331602:H465Y	ENSP00000331602:H465Y	H	+	1	0	PRKCD	53196436	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.818000	0.86416	2.572000	0.86782	0.591000	0.81541	CAC	.	.	none		0.562	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53221396	C	T	53221396	3	4	8	1	0	0	0	0	1	0	0	0	12509	478	17	2	1443	2	PRKCD	3	53221396	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2855894	53221396	144801034	40	1564										
PRICKLE2	166336	hgsc.bcm.edu	37	chr3	64148736	64148736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtgtagtagctgcttgattcGcagtttctctccaggactgt	11	9	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:64148736G>A	ENST00000295902.6	-	3	799	c.214C>T	c.(214-216)Cga>Tga	p.R72*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R128*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	72	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R72*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCTTGATTCGCAGTTTCTCT	0.463																																					p.R72X		Atlas-SNP	.											PRICKLE2,NS,carcinoma,0,1	PRICKLE2	88	1	1	Substitution - Nonsense(1)	stomach(1)	c.C214T						PASS	.						248	232	237					3																	64148736		2203	4300	6503	SO:0001587	stop_gained	166336	exon3			TGATTCGCAGTTT	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.214C>T	3.37:g.64148736G>A	ENSP00000295902:p.Arg72*	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	134	47	0.350746	NM_198859	Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	41	8.954524	0.99016	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	.	.	.	5.77	2.64	0.31445	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3932	15.4473	0.75240	0.0:0.0:0.5029:0.4971	.	.	.	.	X	72	.	ENSP00000295902:R72X	R	-	1	2	PRICKLE2	64123776	0.988000	0.35896	0.988000	0.46212	0.973000	0.67179	1.613000	0.36900	0.743000	0.32719	-0.284000	0.09977	CGA	.	.	none		0.463	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		A	64148736	G	A	64148736	4	1	8	1	0	0	0	0	0	1	0	0	12487	1095	38	1	2344	1	PRICKLE2	3	64148736	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	10927340	64148736	133873694	41	1565										
FAM19A1	407738	hgsc.bcm.edu	37	chr3	68055837	68055837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgcttgtgcaatgctactctGccatggatcccttcagcaca	8	13	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:68055837G>T	ENST00000478136.1	+	2	558	c.68G>T	c.(67-69)tGc>tTc	p.C23F	FAM19A1_ENST00000496687.1_Missense_Mutation_p.C23F	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	23						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		ATGCTACTCTGCCATGGATCC	0.502																																					p.C23F		Atlas-SNP	.											.	FAM19A1	58	.	0			c.G68T						PASS	.						229	223	225					3																	68055837		2106	4240	6346	SO:0001583	missense	407738	exon2			TACTCTGCCATGG	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.68G>T	3.37:g.68055837G>T	ENSP00000418575:p.Cys23Phe	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	196	64	0.326531	NM_213609	A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.493413	0.44352	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	6.17	6.17	0.99709	.	0.181406	0.37178	N	0.002215	T	0.63165	0.2488	L	0.29908	0.895	0.51482	D	0.999929	P	0.51240	0.943	P	0.58013	0.831	T	0.51942	-0.8641	9	0.18276	T	0.48	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23	Q7Z5A9	F19A1_HUMAN	F	23	.	ENSP00000418575:C23F	C	+	2	0	FAM19A1	68138527	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.074000	0.89500	2.941000	0.99782	0.655000	0.94253	TGC	.	.	none		0.502	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		T	68055837	G	T	68055837	3	4	8	1	0	0	0	0	1	0	0	0	5531	1319	46	4	70	4	FAM19A1	3	68055837	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	3907101	68055837	129966593	42	1566										
MITF	4286	hgsc.bcm.edu	37	chr3	69988253	69988253	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcttgtgtttttgcagggatTttataagtttgaagagcaaa	11	3	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:69988253T>G	ENST00000448226.2	+	4	714	c.587T>G	c.(586-588)tTt>tGt	p.F196C	MITF_ENST00000531774.1_Missense_Mutation_p.F33C|MITF_ENST00000314589.5_Missense_Mutation_p.F180C|MITF_ENST00000394351.3_Missense_Mutation_p.F89C|MITF_ENST00000328528.6_Missense_Mutation_p.F195C|MITF_ENST00000314557.6_Missense_Mutation_p.F89C|MITF_ENST00000352241.4_Missense_Mutation_p.F196C|MITF_ENST00000472437.1_Missense_Mutation_p.F144C|MITF_ENST00000394355.2_Missense_Mutation_p.F171C			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	196					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTGCAGGGATTTTATAAGTTT	0.438			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														p.F196C	Melanoma(29;269 969 31479 41502 42961)	Atlas-SNP	.		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	MITF	156	.	0			c.T587G						PASS	.						96	92	93					3																	69988253		2203	4300	6503	SO:0001583	missense	4286	exon4			AGGGATTTTATAA		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.587T>G	3.37:g.69988253T>G	ENSP00000391803:p.Phe196Cys	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	201	54	0.268657	NM_198159	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	T	15.35	2.806498	0.50421	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000433517;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T;T	0.24723	2.66;2.18;2.43;2.63;1.84;2.63;2.64;2.42;1.84;2.44	5.99	5.99	0.97316	.	0.595462	0.16404	N	0.215904	T	0.23492	0.0568	N	0.08118	0	0.46798	D	0.999201	P;P;P;D;D;P;P	0.61697	0.679;0.547;0.911;0.99;0.969;0.924;0.948	B;B;P;P;P;P;P	0.53146	0.338;0.416;0.518;0.639;0.719;0.634;0.54	T	0.10800	-1.0614	9	.	.	.	.	15.0653	0.71989	0.0:0.0:0.0:1.0	.	144;89;89;171;180;195;196	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	C	196;196;88;144;195;180;180;171;89;89;33	ENSP00000295600:F196C;ENSP00000391803:F196C;ENSP00000418845:F144C;ENSP00000327867:F195C;ENSP00000398639:F180C;ENSP00000324443:F180C;ENSP00000377884:F171C;ENSP00000324246:F89C;ENSP00000377880:F89C;ENSP00000435909:F33C	.	F	+	2	0	MITF	70070943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.848000	0.62874	2.291000	0.77112	0.533000	0.62120	TTT	.	.	none		0.438	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		G	69988253	T	G	69988253	3	3	8	1	0	0	0	0	1	0	0	0	9596	1841	64	5	822	5	MITF	3	69988253	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	1932416	69988253	128034177	43	1567										
PDZRN3	23024	hgsc.bcm.edu	37	chr3	73433731	73433731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgctagggtagtacaggccGtaaggggtggcgctcttcac	15	11	2	0	rs142044798		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:73433731G>A	ENST00000263666.4	-	10	2100	c.1986C>T	c.(1984-1986)taC>taT	p.Y662Y	PDZRN3_ENST00000466780.1_Silent_p.Y319Y|PDZRN3_ENST00000535920.1_Silent_p.Y384Y|PDZRN3_ENST00000479530.1_Silent_p.Y379Y|PDZRN3_ENST00000462146.2_Silent_p.Y319Y|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	662					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTACAGGCCGTAAGGGGTGG	0.657																																					p.Y662Y		Atlas-SNP	.											.	PDZRN3	196	.	0			c.C1986T						PASS	.	G		0,4406		0,0,2203	43	47	45		1986	3	0.4	3	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZRN3	NM_015009.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		662/1067	73433731	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23024	exon10			CAGGCCGTAAGGG	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1986C>T	3.37:g.73433731G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	28	0.394366	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1																																																																																			G|1.000;A|0.000	0.000	weak		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		A	73433731	G	A	73433731	2	1	8	1	0	0	0	0	0	0	0	1	11709	1140	40	1		1	PDZRN3	3	73433731	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	3445478	73433731	124588699	44	1568										
ROBO1	6091	hgsc.bcm.edu	37	chr3	78711223	78711223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agcatttcccagctctctctGgacctgcttgtggtccaccc	8	16	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:78711223G>T	ENST00000464233.1	-	15	2121	c.2008C>A	c.(2008-2010)Cag>Aag	p.Q670K	ROBO1_ENST00000467549.1_Missense_Mutation_p.Q634K|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q634K|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q631K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	670					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)		AGCTCTCTCTGGACCTGCTTG	0.488																																					p.Q670K		Atlas-SNP	.											.	ROBO1	833	.	0			c.C2008A						PASS	.						71	79	76					3																	78711223		1964	4147	6111	SO:0001583	missense	6091	exon15			CTCTCTGGACCTG	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.2008C>A	3.37:g.78711223G>T	ENSP00000420321:p.Gln670Lys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	125	19	0.152	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767033	0.90020	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61510	0.13;0.1;0.1;0.17	5.48	4.61	0.57282	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.77616	2.38	0.58432	D	0.999996	P;D;D;D;P;P	0.69078	0.811;0.969;0.989;0.997;0.773;0.934	P;P;D;D;B;P	0.72338	0.879;0.869;0.915;0.977;0.441;0.748	T	0.76854	-0.2805	9	.	.	.	.	14.1298	0.65245	0.0724:0.0:0.9276:0.0	.	634;634;670;634;634;631	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	631;634;670;634;634;674	ENSP00000406043:Q631K;ENSP00000420321:Q670K;ENSP00000420637:Q634K;ENSP00000417992:Q634K	.	Q	-	1	0	ROBO1	78793913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.850000	0.99511	1.310000	0.45006	0.555000	0.69702	CAG	.	.	none		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78711223	G	T	78711223	3	4	8	1	0	0	0	0	1	0	0	0	13513	1357	47	4	3015	4	ROBO1	3	78711223	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	5277492	78711223	119311207	45	1569										
LSAMP	4045	hgsc.bcm.edu	37	chr3	115805359	115805359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cagcaaaaatgatgccagaaCggttcaaccaggccaccttt	8	12	1	2	rs577289191		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:115805359C>T	ENST00000490035.2	-	2	699	c.200G>A	c.(199-201)cGt>cAt	p.R67H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R64H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	67	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GATGCCAGAACGGTTCAACCA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0				p.R67H		Atlas-SNP	.											.	LSAMP	62	.	0			c.G200A						PASS	.						118	106	110					3																	115805359		2203	4300	6503	SO:0001583	missense	4045	exon2			CCAGAACGGTTCA	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.200G>A	3.37:g.115805359C>T	ENSP00000419000:p.Arg67His	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	115	44	0.382609	NM_002338	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494944	0.96339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79063	-0.1957	10	0.87932	D	0	-8.0017	20.005	0.97433	0.0:1.0:0.0:0.0	.	67;67	B2RCU8;Q13449	.;LSAMP_HUMAN	H	51;67;64;101	ENSP00000328455:R51H;ENSP00000419000:R67H;ENSP00000443429:R64H;ENSP00000418506:R101H	ENSP00000328455:R51H	R	-	2	0	LSAMP	117288049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.745000	0.94114	0.555000	0.69702	CGT	.	.	none		0.473	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		T	115805359	C	T	115805359	3	4	8	1	0	0	0	0	1	0	0	0	9048	536	19	1	840	1	LSAMP	3	115805359	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	37094136	115805359	82217071	46	1570										
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197409444	197409444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtagatgtcagcgtgctgccCgtcatccggtgagatgggca	15	10	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr3:197409444C>T	ENST00000296343.5	-	14	2022	c.2023G>A	c.(2023-2025)Ggg>Agg	p.G675R	KIAA0226_ENST00000273582.5_Missense_Mutation_p.G630R|KIAA0226_ENST00000389665.5_Missense_Mutation_p.G700R	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	675					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCGTGCTGCCCGTCATCCGGT	0.582																																					p.G675R	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											KIAA0226_ENST00000273582,NS,carcinoma,0,2	KIAA0226	136	2	0			c.G2023A						PASS	.						60	64	62					3																	197409444		2164	4264	6428	SO:0001583	missense	9711	exon14			GCTGCCCGTCATC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2023G>A	3.37:g.197409444C>T	ENSP00000296343:p.Gly675Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	101	31	0.306931	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.78|19.78	3.890439|3.890439	0.72524|0.72524	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000413360	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.057192|.	0.64402|.	D|.	0.000001|.	T|T	0.60650|0.60650	0.2285|0.2285	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.961;0.986|.	P;B;P|.	0.58013|.	0.831;0.411;0.479|.	T|T	0.53258|0.53258	-0.8464|-0.8464	10|5	0.25751|.	T|.	0.34|.	.|.	19.8677|19.8677	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	700;630;675|.	Q92622-3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	R|Q	630;675;700|636	ENSP00000273582:G630R;ENSP00000296343:G675R;ENSP00000374316:G700R|.	ENSP00000273582:G630R|.	G|R	-|-	1|2	0|0	KIAA0226|KIAA0226	198893841|198893841	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.930000|0.930000	0.56654|0.56654	7.818000|7.818000	0.86416|0.86416	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGG|CGG	.	.	none		0.582	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		T	197409444	C	T	197409444	3	4	8	1	0	0	0	0	1	0	0	0	8162	652	23	1	923	1	KIAA0226	3	197409444	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	81604085	197409444	612986	47	1571										
ARAP2	116984	hgsc.bcm.edu	37	chr4	36069898	36069898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctttcaagttctgctcttgcActctaaaaataaaattaaat	3	8	4	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:36069898A>G	ENST00000303965.4	-	33	5235	c.4746T>C	c.(4744-4746)agT>agC	p.S1582S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1582					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						CTGCTCTTGCACTCTAAAAAT	0.418																																					p.S1582S		Atlas-SNP	.											.	ARAP2	210	.	0			c.T4746C						PASS	.						41	45	44					4																	36069898		2200	4297	6497	SO:0001819	synonymous_variant	116984	exon33			TCTTGCACTCTAA	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.4746T>C	4.37:g.36069898A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	57	8	0.140351	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																			.	.	none		0.418	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		G	36069898	A	G	36069898	2	3	8	1	0	0	0	0	0	0	0	1	839	156	6	2		2	ARAP2	4	36069898	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10		36069898	155084378	48	1572										
SLC4A4	8671	hgsc.bcm.edu	37	chr4	72338528	72338528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcttggttcaatacttcacaCgtttcacggaggagggcttt	10	9	4	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:72338528C>T	ENST00000264485.5	+	14	1861	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R582C|SLC4A4_ENST00000340595.3_Missense_Mutation_p.R538C|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R538C|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R582C	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	582					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATACTTCACACGTTTCACGGA	0.448																																					p.R582C		Atlas-SNP	.											.	SLC4A4	269	.	0			c.C1744T						PASS	.						178	170	173					4																	72338528		2203	4300	6503	SO:0001583	missense	8671	exon14			TTCACACGTTTCA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1744C>T	4.37:g.72338528C>T	ENSP00000264485:p.Arg582Cys	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	161	44	0.273292	NM_001098484	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150747	0.94645	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0	D	0.95867	0.8888	10	0.87932	D	0	.	19.2755	0.94030	0.0:1.0:0.0:0.0	.	582;582;538;538;562;582	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	C	582;582;582;538;538	ENSP00000264485:R582C;ENSP00000393557:R582C;ENSP00000307349:R582C;ENSP00000422400:R538C;ENSP00000344272:R538C	ENSP00000264485:R582C	R	+	1	0	SLC4A4	72557392	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.553000	0.86117	0.655000	0.94253	CGT	.	.	none		0.448	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72338528	C	T	72338528	3	4	8	1	0	0	0	0	1	0	0	0	14656	536	19	1	1915	1	SLC4A4	4	72338528	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	36268630	72338528	118815748	49	1573										
ANKRD17	26057	hgsc.bcm.edu	37	chr4	74005713	74005713	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agttttcagttgtaactctcGttctactttctgtagttcct	6	9	4	0	rs148961166		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:74005713G>A	ENST00000358602.4	-	15	2736	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.R761*|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	874	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTAACTCTCGTTCTACTTTC	0.403																																					p.R874X		Atlas-SNP	.											.	ANKRD17	214	.	0			c.C2620T						PASS	.						229	224	226					4																	74005713		2203	4300	6503	SO:0001587	stop_gained	26057	exon15			ACTCTCGTTCTAC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2620C>T	4.37:g.74005713G>A	ENSP00000351416:p.Arg874*	Somatic	536	0	0		WXS	Illumina HiSeq	Phase_I	464	131	0.282328	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753525	0.89753	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	.	.	.	5.65	3.86	0.44501	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8091	0.63252	0.0:0.0:0.5576:0.4424	.	.	.	.	X	874;874;761;874	.	ENSP00000351416:R874X	R	-	1	2	ANKRD17	74224577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.761000	0.55242	0.790000	0.33803	-0.182000	0.12963	CGA	G|1.000;T|0.000	.	alt		0.403	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	74005713	G	A	74005713	4	1	8	1	0	0	0	0	0	1	0	0	646	1153	40	1	5271	1	ANKRD17	4	74005713	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	1667185	74005713	117148563	50	1574										
HNRNPD	3184	hgsc.bcm.edu	37	chr4	83294683	83294683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cggtgcctccagacgcggttCcgcccccggtcccggctccg	13	20	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:83294683C>T	ENST00000313899.7	-	1	426	c.149G>A	c.(148-150)gGa>gAa	p.G50E	RP11-127B20.3_ENST00000609575.1_RNA|HNRNPD_ENST00000541060.1_5'UTR|HNRNPD_ENST00000353341.4_Missense_Mutation_p.G50E|HNRNPD_ENST00000543098.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.G50E|RP11-127B20.3_ENST00000609552.1_RNA	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	50					circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						agacgcggttccgcccccggt	0.726																																					p.G50E		Atlas-SNP	.											.	HNRNPD	23	.	0			c.G149A						PASS	.						31	22	25					4																	83294683		2046	3968	6014	SO:0001583	missense	3184	exon1			GCGGTTCCGCCCC	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.149G>A	4.37:g.83294683C>T	ENSP00000313199:p.Gly50Glu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	18	0.3	NM_031370	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.081828|2.081828	0.36758|0.36758	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000307213|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000507010;ENST00000503822	.|T;T;T;T;T	.|0.70749	.|-0.38;-0.13;-0.51;2.07;1.63	3.73|3.73	3.73|3.73	0.42828|0.42828	.|CARG-binding factor, N-terminal (1);	.|0.784110	.|0.11609	.|N	.|0.546925	T|T	0.64338|0.64338	0.2589|0.2589	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.74023	.|0.969;0.969;0.969;0.982	T|T	0.54879|0.54879	-0.8227|-0.8227	6|10	0.10902|0.06365	T|T	0.67|0.9	.|.	11.2766|11.2766	0.49170|0.49170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50;50;50	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	K|E	46|50	.|ENSP00000313199:G50E;ENSP00000313327:G50E;ENSP00000305860:G50E;ENSP00000421952:G50E;ENSP00000422615:G50E	ENSP00000307544:E46K|ENSP00000313199:G50E	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83513707|83513707	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.839000|0.839000	0.47603|0.47603	2.895000|2.895000	0.48648|0.48648	2.108000|2.108000	0.64289|0.64289	0.479000|0.479000	0.44913|0.44913	GAA|GGA	.	.	none		0.726	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		T	83294683	C	T	83294683	3	4	8	1	0	0	0	0	1	0	0	0	7264	855	30	2	950	2	HNRNPD	4	83294683	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	9288970	83294683	107859593	51	1575										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga	13	6	0	4	rs367717407|rs373805744	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	DSPP_ENST00000399271.1_Silent_p.S1088S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.T3264C						scavenged	.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	4	2	0.5		WXS	Illumina HiSeq	Phase_I	31	13	0.419355	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537078	T	C	88537078	2	2	8	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88537078	Silent	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	5242395	88537078	102617198	52	1576										
MMRN1	22915	hgsc.bcm.edu	37	chr4	90856769	90856769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aatgatttgacttatgatatGgagatccttcaacccttgct	7	8	1	4			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:90856769G>C	ENST00000394980.1	+	7	2257	c.1938G>C	c.(1936-1938)atG>atC	p.M646I	MMRN1_ENST00000264790.2_Missense_Mutation_p.M646I|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M388I			Q13201	MMRN1_HUMAN	multimerin 1	646					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTATGATATGGAGATCCTTC	0.363																																					p.M646I		Atlas-SNP	.											.	MMRN1	174	.	0			c.G1938C						PASS	.						76	73	74					4																	90856769		2203	4300	6503	SO:0001583	missense	22915	exon6			TGATATGGAGATC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1938G>C	4.37:g.90856769G>C	ENSP00000378431:p.Met646Ile	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	106	20	0.188679	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410361	0.62399	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.73363	-0.48;-0.48;-0.74	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.85759	0.1348	10	0.56958	D	0.05	.	19.3191	0.94231	0.0:0.0:1.0:0.0	.	646	Q13201	MMRN1_HUMAN	I	646;646;388	ENSP00000378431:M646I;ENSP00000264790:M646I;ENSP00000426461:M388I	ENSP00000264790:M646I	M	+	3	0	MMRN1	91075792	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.326000	0.72905	2.718000	0.92993	0.655000	0.94253	ATG	.	.	none		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		C	90856769	G	C	90856769	3	2	8	1	0	0	0	0	1	0	0	0	9670	1348	47	4	1960	4	MMRN1	4	90856769	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2319691	90856769	100297507	53	1577										
TET2	54790	hgsc.bcm.edu	37	chr4	106155165	106155165	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccattcctgataccatcaccTcccatttgccagacagaacc	4	17	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:106155165T>G	ENST00000540549.1	+	3	926	c.66T>G	c.(64-66)ccT>ccG	p.P22P	TET2_ENST00000305737.2_Silent_p.P22P|TET2_ENST00000545826.1_Silent_p.P22P|TET2_ENST00000413648.2_Silent_p.P22P|TET2_ENST00000394764.1_Silent_p.P22P|TET2_ENST00000513237.1_Silent_p.P43P|TET2_ENST00000380013.4_Silent_p.P22P			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	22					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TACCATCACCTCCCATTTGCC	0.522			"Mis N, F"		MDS																																p.P22P		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	TET2,NS,haematopoietic_neoplasm,+1,1	TET2	1762	1	0			c.T66G						PASS	.						76	65	68					4																	106155165		2203	4300	6503	SO:0001819	synonymous_variant	54790	exon3			ATCACCTCCCATT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.66T>G	4.37:g.106155165T>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	54	14	0.259259	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																			.	.	none		0.522	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106155165	T	G	106155165	2	3	8	1	0	0	0	0	0	0	0	1	15767	1538	54	5		5	TET2	4	106155165	Silent	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	15298396	106155165	84999111	54	1578										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125631534	125631534	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tggtgcattgacagcactatTgcagcagttacttttctcct	8	10	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:125631534T>G	ENST00000504087.1	-	2	1170	c.133A>C	c.(133-135)Aat>Cat	p.N45H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	45				N -> D (in Ref. 1; BAF83757). {ECO:0000305}.						NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACAGCACTATTGCAGCAGTTA	0.473																																					p.N45H		Atlas-SNP	.											.	ANKRD50	136	.	0			c.A133C						PASS	.						98	96	97					4																	125631534		2203	4300	6503	SO:0001583	missense	57182	exon2			CACTATTGCAGCA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.133A>C	4.37:g.125631534T>G	ENSP00000425658:p.Asn45His	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	93	32	0.344086	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490934	0.26774	.	.	ENSG00000151458	ENST00000504087	T	0.18810	2.19	5.23	2.64	0.31445	.	0.603815	0.16483	N	0.212469	T	0.09247	0.0228	N	0.08118	0	0.48511	D	0.99966	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.59425	D	0.04	.	3.1162	0.06375	0.1441:0.0817:0.1406:0.6336	.	45	Q9ULJ7	ANR50_HUMAN	H	45	ENSP00000425658:N45H	ENSP00000425658:N45H	N	-	1	0	ANKRD50	125850984	0.969000	0.33509	0.683000	0.30040	0.990000	0.78478	1.272000	0.33109	0.382000	0.24878	0.459000	0.35465	AAT	.	.	none		0.473	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125631534	T	G	125631534	3	3	8	1	0	0	0	0	1	0	0	0	677	1812	63	5	4168	5	ANKRD50	4	125631534	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	19476369	125631534	65522742	55	1579										
FAT4	79633	hgsc.bcm.edu	37	chr4	126242092	126242092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgtgccaatagaaactagacGgtatgctttgaagaacgtga	11	6	0	5			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:126242092G>T	ENST00000394329.3	+	1	4539	c.4526G>T	c.(4525-4527)cGg>cTg	p.R1509L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1509	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAACTAGACGGTATGCTTTG	0.408																																					p.R1509L		Atlas-SNP	.											FAT4_ENST00000394329,NS,carcinoma,+1,2	FAT4	1752	2	0			c.G4526T						scavenged	.						142	131	134					4																	126242092		1930	4137	6067	SO:0001583	missense	79633	exon1			CTAGACGGTATGC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4526G>T	4.37:g.126242092G>T	ENSP00000377862:p.Arg1509Leu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	123	2	0.0162602	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	2.659	-0.280116	0.05642	.	.	ENSG00000196159	ENST00000394329	T	0.50548	0.74	4.57	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.000000	0.32204	U	0.006421	T	0.37404	0.1002	N	0.01631	-0.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42327	-0.9458	10	0.23302	T	0.38	.	11.3983	0.49856	0.0834:0.0:0.9166:0.0	.	1509	Q6V0I7	FAT4_HUMAN	L	1509	ENSP00000377862:R1509L	ENSP00000377862:R1509L	R	+	2	0	FAT4	126461542	0.987000	0.35691	0.073000	0.20177	0.192000	0.23643	6.338000	0.72963	2.535000	0.85469	0.655000	0.94253	CGG	.	.	none		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126242092	G	T	126242092	3	4	8	1	0	0	0	0	1	0	0	0	5692	1116	39	4	4528	4	FAT4	4	126242092	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	610558	126242092	64912184	56	1580										
FAT4	79633	hgsc.bcm.edu	37	chr4	126328261	126328261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	acccaaattttccagacccgTgtactcttttgacattcctg	5	13	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:126328261T>C	ENST00000394329.3	+	3	5547	c.5534T>C	c.(5533-5535)gTg>gCg	p.V1845A	FAT4_ENST00000335110.5_Missense_Mutation_p.V143A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCAGACCCGTGTACTCTTTT	0.413																																					p.V1845A		Atlas-SNP	.											FAT4_ENST00000394329,NS,carcinoma,-1,4	FAT4	1752	4	0			c.T5534C						scavenged	.						133	130	131					4																	126328261		2203	4300	6503	SO:0001583	missense	79633	exon3			GACCCGTGTACTC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5534T>C	4.37:g.126328261T>C	ENSP00000377862:p.Val1845Ala	Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	126	31	0.246032	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	2.201	-0.382986	0.04966	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01228	5.14;5.14	5.41	5.41	0.78517	Cadherin (2);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.01421	0.0046	N	0.21324	0.655	0.28172	N	0.928529	B;B	0.22480	0.07;0.004	B;B	0.29942	0.109;0.009	T	0.45818	-0.9235	10	0.10111	T	0.7	.	12.2953	0.54842	0.0:0.0:0.1413:0.8587	.	143;1845	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	1845;143	ENSP00000377862:V1845A;ENSP00000335169:V143A	ENSP00000335169:V143A	V	+	2	0	FAT4	126547711	1.000000	0.71417	0.996000	0.52242	0.229000	0.25112	3.796000	0.55507	2.168000	0.68352	0.528000	0.53228	GTG	.	.	none		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126328261	T	C	126328261	3	2	8	1	0	0	0	0	1	0	0	0	5692	1696	59	2	5544	2	FAT4	4	126328261	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	86169	126328261	64826015	57	1581										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811088	140811088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctgctgctgctgctgctgcTgctgctgctgctgctgctgc	14	14	0	0	rs544518608|rs58287721	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:140811088T>C	ENST00000509479.2	-	2	2358	c.1502A>G	c.(1501-1503)cAg>cGg	p.Q501R	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Missense_Mutation_p.Q345R	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ctgctgctgctgctgctgctg	0.532																																					p.Q501R		Atlas-SNP	.											.	MAML3	192	.	0			c.A1502G						PASS	.						18	26	23					4																	140811088		2141	4284	6425	SO:0001583	missense	55534	exon2			TGCTGCTGCTGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1502A>G	4.37:g.140811088T>C	ENSP00000421180:p.Gln501Arg	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	96	15	0.15625	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	7.066	0.567353	0.13560	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T;T	0.47869	0.83;0.83	3.5	0.541	0.17168	.	0.000000	0.51477	D	0.000093	T	0.26484	0.0647	N	0.19112	0.55	0.80722	D	1	B	0.31655	0.334	B	0.26202	0.067	T	0.04946	-1.0916	10	0.48119	T	0.1	.	7.8092	0.29221	0.0:0.0:0.4022:0.5978	.	501	Q96JK9	MAML3_HUMAN	R	501;345	ENSP00000421180:Q501R;ENSP00000313316:Q345R	ENSP00000313316:Q345R	Q	-	2	0	MAML3	141030538	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	2.071000	0.41500	0.332000	0.23536	0.329000	0.21502	CAG	.	.	none		0.532	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140811088	T	C	140811088	3	2	8	1	0	0	0	0	1	0	0	0	9207	1580	55	3	1922	3	MAML3	4	140811088	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	14482827	140811088	50343188	58	1582			2	11		2	2	13	T		7.558665e-05
MAML3	55534	hgsc.bcm.edu	37	chr4	140811100	140811100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctgctgctgctgctgctgcTgctgctgctgctgctgctgc	14	14	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:140811100T>C	ENST00000509479.2	-	2	2346	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	MAML3_ENST00000398940.1_Splice_Site_p.Q36R|MAML3_ENST00000327122.5_Missense_Mutation_p.Q341R	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ctgctgctgctgctgctgctg	0.542																																					p.Q497R		Atlas-SNP	.											MAML3_ENST00000509479,caecum,carcinoma,+1,12	MAML3	192	12	0			c.A1490G						PASS	.						13	19	17					4																	140811100		2113	4228	6341	SO:0001583	missense	55534	exon2			TGCTGCTGCTGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1490A>G	4.37:g.140811100T>C	ENSP00000421180:p.Gln497Arg	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	90	14	0.155556	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	t	10.16	1.273989	0.23221	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.55052	0.54;0.54	4.53	4.53	0.55603	.	0.270437	0.26275	N	0.025317	T	0.45577	0.1349	N	0.08118	0	0.34541	D	0.710295	P	0.45126	0.851	P	0.55391	0.775	T	0.60571	-0.7237	10	0.51188	T	0.08	.	10.2567	0.43401	0.0:0.0:0.0:1.0	.	497	Q96JK9	MAML3_HUMAN	R	497;341;36	ENSP00000421180:Q497R;ENSP00000313316:Q341R	ENSP00000313316:Q341R	Q	-	2	0	MAML3	141030550	0.992000	0.36948	0.937000	0.37676	0.553000	0.35397	-0.323000	0.07997	1.657000	0.50732	0.374000	0.22700	CAG	.	.	none		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140811100	T	C	140811100	3	2	8	1	0	0	0	0	1	0	0	0	9207	1580	55	3	1934	3	MAML3	4	140811100	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	12	140811100	50343176	59	1583			2	11		2	2	13	T		7.558665e-05
INPP4B	8821	hgsc.bcm.edu	37	chr4	143129658	143129658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctaatgttttctctcctttgCtgctgcttgatttgaaagag	8	8	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:143129658C>T	ENST00000513000.1	-	15	1425	c.992G>A	c.(991-993)aGc>aAc	p.S331N	INPP4B_ENST00000509777.1_Missense_Mutation_p.S331N|INPP4B_ENST00000508116.1_Missense_Mutation_p.S331N|INPP4B_ENST00000308502.4_Missense_Mutation_p.S331N|INPP4B_ENST00000262992.4_Missense_Mutation_p.S331N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	331					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTCTCCTTTGCTGCTGCTTGA	0.303																																					p.S331N		Atlas-SNP	.											INPP4B,NS,carcinoma,-1,1	INPP4B	132	1	0			c.G992A						PASS	.						101	100	100					4																	143129658		2203	4300	6503	SO:0001583	missense	8821	exon15			CCTTTGCTGCTGC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.992G>A	4.37:g.143129658C>T	ENSP00000425487:p.Ser331Asn	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	206	30	0.145631	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	3.515	-0.098886	0.07010	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.71	3.07	0.35406	.	0.135929	0.64402	D	0.000002	T	0.23410	0.0566	L	0.44542	1.39	0.41670	D	0.989239	B;B	0.13145	0.003;0.007	B;B	0.17722	0.007;0.019	T	0.05632	-1.0873	10	0.18276	T	0.48	.	10.0078	0.41968	0.0:0.7762:0.0:0.2238	.	202;331	B7Z6T2;O15327	.;INP4B_HUMAN	N	331;331;331;202;331;331;146;146;331;202	ENSP00000425487:S331N;ENSP00000262992:S331N;ENSP00000308441:S331N;ENSP00000423954:S331N;ENSP00000422793:S331N;ENSP00000426207:S146N;ENSP00000427250:S331N;ENSP00000421065:S202N	ENSP00000262992:S331N	S	-	2	0	INPP4B	143349108	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.877000	0.39598	0.777000	0.33496	-0.300000	0.09419	AGC	.	.	none		0.303	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		T	143129658	C	T	143129658	3	4	8	1	0	0	0	0	1	0	0	0	7753	797	28	2	1834	2	INPP4B	4	143129658	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2318558	143129658	48024618	60	1584										
INPP4B	8821	hgsc.bcm.edu	37	chr4	143235864	143235864	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggaaacgttagaaacacttaCcccaacttctggcgggggat	11	10	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:143235864C>T	ENST00000513000.1	-	9	857		c.e9+1		INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAAACACTTACCCCAACTTCT	0.413																																					.		Atlas-SNP	.											.	INPP4B	132	.	0			c.423+1G>A						PASS	.						125	128	127					4																	143235864		2203	4300	6503	SO:0001630	splice_region_variant	8821	exon10			CACTTACCCCAAC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.423+1G>A	4.37:g.143235864C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	116	44	0.37931	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Splice_Site	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550239	0.45383	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0793	0.80989	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INPP4B	143455314	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	4.418000	0.59828	2.873000	0.98535	0.561000	0.74099	.	.	.	none		0.413	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	Intron	T	143235864	C	T	143235864	5	4	8	1	0	0	0	0	0	0	1	0	7753	521	18	2	2426	2	INPP4B	4	143235864	Splice_Site	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	106206	143235864	47918412	61	1585										
MAB21L2	10586	hgsc.bcm.edu	37	chr4	151504768	151504768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gccccacatcccttggcccgGccccaatcgggtggccgagg	13	18	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr4:151504768G>A	ENST00000317605.4	+	1	1692	c.587G>A	c.(586-588)gGc>gAc	p.G196D	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	196					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCTTGGCCCGGCCCCAATCGG	0.647																																					p.G196D		Atlas-SNP	.											.	MAB21L2	53	.	0			c.G587A						PASS	.						34	37	36					4																	151504768		2202	4297	6499	SO:0001583	missense	10586	exon1			GGCCCGGCCCCAA	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.587G>A	4.37:g.151504768G>A	ENSP00000324701:p.Gly196Asp	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	34	10	0.294118	NM_006439	B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105797	0.37145	.	.	ENSG00000181541	ENST00000317605	T	0.07800	3.16	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	N	0.22421	0.69	0.80722	D	1	B	0.29232	0.238	B	0.34590	0.186	T	0.38735	-0.9647	10	0.24483	T	0.36	-20.9107	19.4978	0.95081	0.0:0.0:1.0:0.0	.	196	Q9Y586	MB212_HUMAN	D	196	ENSP00000324701:G196D	ENSP00000324701:G196D	G	+	2	0	MAB21L2	151724218	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.869000	0.99810	2.608000	0.88229	0.462000	0.41574	GGC	.	.	none		0.647	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		A	151504768	G	A	151504768	3	1	8	1	0	0	0	0	1	0	0	0	9142	1203	42	2	589	2	MAB21L2	4	151504768	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	8268904	151504768	39649508	62	1586										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37169527	37169527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gaacaacagaaggtgtggacAaaaggtagaggtgagtattt	14	3	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:37169527A>G	ENST00000508244.1	-	33	6692	c.6599T>C	c.(6598-6600)tTg>tCg	p.L2200S	C5orf42_ENST00000274258.7_Missense_Mutation_p.L1080S|C5orf42_ENST00000425232.2_Missense_Mutation_p.L2200S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2200						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTGTGGACAAAAGGTAGAG	0.428																																					p.L2200S		Atlas-SNP	.											.	C5orf42	422	.	0			c.T6599C						PASS	.						74	76	75					5																	37169527		2203	4300	6503	SO:0001583	missense	65250	exon34			GTGGACAAAAGGT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6599T>C	5.37:g.37169527A>G	ENSP00000421690:p.Leu2200Ser	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	151	31	0.205298	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809357	0.70797	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.44482	0.99;0.99;0.92;0.95	5.53	5.53	0.82687	.	0.264081	0.24523	N	0.037796	T	0.60958	0.2309	L	0.57536	1.79	0.36777	D	0.88412	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69117	-0.5230	10	0.66056	D	0.02	.	14.2343	0.65916	1.0:0.0:0.0:0.0	.	2200;1080	E9PH94;Q9H799	.;CE042_HUMAN	S	2200;2200;1080;1248;1080	ENSP00000421690:L2200S;ENSP00000389014:L2200S;ENSP00000274258:L1080S;ENSP00000424223:L1248S	ENSP00000274258:L1080S	L	-	2	0	C5orf42	37205284	1.000000	0.71417	0.996000	0.52242	0.390000	0.30446	5.994000	0.70623	2.092000	0.63282	0.533000	0.62120	TTG	.	.	none		0.428	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37169527	A	G	37169527	3	3	8	1	0	0	0	0	1	0	0	0	2301	131	5	2	3070	2	C5orf42	5	37169527	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10		37169527	143745733	63	1587										
TNPO1	3842	hgsc.bcm.edu	37	chr5	72173116	72173116	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tttagaagcctgtgaattttGgctaactttagctgaacagc	9	7	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:72173116G>A	ENST00000337273.5	+	9	1289	c.863G>A	c.(862-864)tGg>tAg	p.W288*	MIR4804_ENST00000581683.1_RNA|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.W238*|TNPO1_ENST00000506351.2_Nonsense_Mutation_p.W280*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.W238*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	288					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TGTGAATTTTGGCTAACTTTA	0.358																																					p.W288X		Atlas-SNP	.											.	TNPO1	90	.	0			c.G863A						PASS	.						106	103	104					5																	72173116		2203	4300	6503	SO:0001587	stop_gained	3842	exon9			AATTTTGGCTAAC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.863G>A	5.37:g.72173116G>A	ENSP00000336712:p.Trp288*	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	116	37	0.318966	NM_002270	B4DVC6|Q92957|Q92975	Nonsense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	37	6.330344	0.97480	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7328	19.7884	0.96447	0.0:0.0:1.0:0.0	.	.	.	.	X	288;238;238;280	.	ENSP00000336712:W288X	W	+	2	0	TNPO1	72208872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.318000	0.96334	2.758000	0.94735	0.650000	0.86243	TGG	.	.	none		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		A	72173116	G	A	72173116	4	1	8	1	0	0	0	0	0	1	0	0	16332	1357	47	2	897	2	TNPO1	5	72173116	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	35003589	72173116	108742144	64	1588										
PCDHA1	56147	hgsc.bcm.edu	37	chr5	140167650	140167650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gggtgcgggtcatgtggtggCgaaggtgcgcgcagtggacg	22	7	1	0	rs190769137		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:140167650C>T	ENST00000504120.2	+	1	1775	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A592V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTGGTGGCGAAGGTGCGC	0.687																																					p.A592V		Atlas-SNP	.											PCDHA1_ENST00000504120,NS,carcinoma,+1,2	PCDHA1	387	2	0			c.C1775T						PASS	.						105	98	101					5																	140167650		2203	4299	6502	SO:0001583	missense	56147	exon1			TGGTGGCGAAGGT	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1775C>T	5.37:g.140167650C>T	ENSP00000420840:p.Ala592Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	139	46	0.330935	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	13.07	2.127280	0.37533	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.51574	0.7;0.7	3.36	3.36	0.38483	Cadherin (3);Cadherin-like (1);	0.410677	0.17341	U	0.177745	T	0.39860	0.1094	L	0.52011	1.625	0.26452	N	0.975595	B;B	0.34372	0.451;0.191	B;B	0.29598	0.104;0.063	T	0.40117	-0.9580	10	0.59425	D	0.04	.	11.6879	0.51497	0.0:0.7539:0.2461:0.0	.	592;592	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	592	ENSP00000420840:A592V;ENSP00000367373:A592V	ENSP00000367373:A592V	A	+	2	0	PCDHA1	140147834	0.000000	0.05858	0.977000	0.42913	0.384000	0.30261	0.552000	0.23376	1.572000	0.49736	0.484000	0.47621	GCG	C|1.000;G|0.000	.	alt		0.687	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167650	C	T	140167650	3	4	8	1	0	0	0	0	1	0	0	0	11519	768	27	1	1777	1	PCDHA1	5	140167650	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	67994534	140167650	40747610	65	1589										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188702	140188702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tggacgaaacggacgctccgCgccaccgcctactggtactg	12	15	0	0	rs142688560		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:140188702C>T	ENST00000530339.1	+	1	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R644C|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R644C|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTCCGCGCCACCGCCT	0.682																																					p.R644C		Atlas-SNP	.											PCDHA4_ENST00000530339,NS,carcinoma,-1,2	PCDHA4	419	2	0			c.C1930T						PASS	.	C	,,,CYS/ARG,,CYS/ARG	4,4402	9.9+/-24.2	0,4,2199	76	79	78		,,,1930,,1930	4.1	0	5	dbSNP_134	78	13,8587	9.8+/-36.6	0,13,4287	yes	intron,intron,intron,missense,intron,missense	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,180,,180	0,17,6486	TT,TC,CC		0.1512,0.0908,0.1307	,,,,,	,,,644/948,,644/799	140188702	17,12989	2203	4300	6503	SO:0001583	missense	56144	exon1			GCTCCGCGCCACC	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1930C>T	5.37:g.140188702C>T	ENSP00000435300:p.Arg644Cys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	82	6	0.0731707	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	8.422	0.846641	0.16963	9.08E-4	0.001512	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53206	0.63;0.63;0.63	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.194269	0.23758	U	0.044856	T	0.70833	0.3269	M	0.91663	3.23	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.73380	0.924;0.932;0.98	T	0.64214	-0.6460	10	0.87932	D	0	.	8.772	0.34737	0.1688:0.6675:0.1636:0.0	.	644;644;644	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	C	644	ENSP00000423470:R644C;ENSP00000349344:R644C;ENSP00000435300:R644C	ENSP00000349344:R644C	R	+	1	0	PCDHA4	140168886	0.000000	0.05858	0.047000	0.18901	0.020000	0.10135	-1.228000	0.02948	2.006000	0.58801	0.484000	0.47621	CGC	C|0.998;T|0.002	0.002	strong		0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188702	C	T	140188702	3	4	8	1	0	0	0	0	1	0	0	0	11526	768	27	1	1932	1	PCDHA4	5	140188702	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	21052	140188702	40726558	66	1590										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140222523	140222523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttccaggtgagcgcgcgcgaCgcgggcgtgccgcctctggg	18	14	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:140222523C>T	ENST00000531613.1	+	1	1617	c.1617C>T	c.(1615-1617)gaC>gaT	p.D539D	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.D539D|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGCGACGCGGGCGTGC	0.672																																					p.D539D		Atlas-SNP	.											.	PCDHA8	366	.	0			c.C1617T						PASS	.						52	62	59					5																	140222523		2193	4266	6459	SO:0001819	synonymous_variant	56140	exon1			GCGCGACGCGGGC	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1617C>T	5.37:g.140222523C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	67	24	0.358209	NM_031856	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																			.	.	none		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140222523	C	T	140222523	2	4	8	1	0	0	0	0	0	0	0	1	11530	535	19	1		1	PCDHA8	5	140222523	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	33821	140222523	40692737	67	1591										
RMND5B	64777	hgsc.bcm.edu	37	chr5	177565199	177565199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cctacgggcagcactgtgagCggagcctggaggagctgctg	17	11	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr5:177565199C>T	ENST00000515098.1	+	4	430	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RMND5B_ENST00000542098.1_Intron|RMND5B_ENST00000313386.4_Missense_Mutation_p.R27W			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	27										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GCACTGTGAGCGGAGCCTGGA	0.672																																					p.R27W		Atlas-SNP	.											.	RMND5B	37	.	0			c.C79T						PASS	.						58	47	50					5																	177565199		2203	4300	6503	SO:0001583	missense	64777	exon3			TGTGAGCGGAGCC	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.79C>T	5.37:g.177565199C>T	ENSP00000420875:p.Arg27Trp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	142	44	0.309859	NM_022762	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127598	0.56721	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000502814;ENST00000507457;ENST00000508647	.	.	.	5.44	4.49	0.54785	.	0.139173	0.48286	D	0.000200	T	0.27278	0.0669	N	0.08118	0	0.80722	D	1	D	0.56521	0.976	B	0.38712	0.28	T	0.33369	-0.9871	9	0.87932	D	0	-11.477	14.4961	0.67688	0.157:0.843:0.0:0.0	.	27	Q96G75	RMD5B_HUMAN	W	27	.	ENSP00000320623:R27W	R	+	1	2	RMND5B	177497805	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.103000	0.50298	2.533000	0.85409	0.563000	0.77884	CGG	.	.	none		0.672	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		T	177565199	C	T	177565199	3	4	8	1	0	0	0	0	1	0	0	0	13398	759	27	1	81	1	RMND5B	5	177565199	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	37342676	177565199	3350061	68	1592										
HIST1H4K	8362	hgsc.bcm.edu	37	chr6	27799019	27799019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caccgaaaccgtagagggtgCggccctggcgcttgagcgcg	16	13	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:27799019C>T	ENST00000357549.2	-	1	286	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	96					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GTAGAGGGTGCGGCCCTGGCG	0.587																																					p.R96H		Atlas-SNP	.											HIST1H4K,NS,carcinoma,-1,1	HIST1H4K	15	1	0			c.G287A						scavenged	.						30	33	32					6																	27799019		2203	4297	6500	SO:0001583	missense	8362	exon1			AGGGTGCGGCCCT	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.287G>A	6.37:g.27799019C>T	ENSP00000350159:p.Arg96His	Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	383	4	0.0104439	NM_003541	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.948421	0.73787	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.25	4.25	0.50352	.	0.000000	0.56097	U	0.000034	T	0.69913	0.3164	.	.	.	0.40957	D	0.984598	.	.	.	.	.	.	T	0.76105	-0.3081	6	0.87932	D	0	.	16.0265	0.80548	0.0:1.0:0.0:0.0	.	.	.	.	H	96	.	ENSP00000350159:R96H	R	-	2	0	HIST1H4K	27906998	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.999000	0.76283	2.064000	0.61679	0.650000	0.86243	CGC	.	.	none		0.587	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		T	27799019	C	T	27799019	3	4	8	1	0	0	0	0	1	0	0	0	7175	768	27	1	28	1	HIST1H4K	6	27799019	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10		27799019	143316048	69	1593										
HIST1H2BO	8348	hgsc.bcm.edu	37	chr6	27861456	27861456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttcgtcaatgacatctttgaGcgcatcgctggcgaggcttc	11	11	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:27861456G>A	ENST00000303806.4	+	1	254	c.216G>A	c.(214-216)gaG>gaA	p.E72E	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	72					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										ACATCTTTGAGCGCATCGCTG	0.602																																					p.E72E		Atlas-SNP	.											.	HIST1H2BO	30	.	0			c.G216A						PASS	.						131	120	123					6																	27861456		2203	4300	6503	SO:0001819	synonymous_variant	8348	exon1			CTTTGAGCGCATC	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.216G>A	6.37:g.27861456G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	144	40	0.277778	NM_003527	Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	CCDS4640.1																																																																																			.	.	none		0.602	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		A	27861456	G	A	27861456	2	1	8	1	0	0	0	0	0	0	0	1	7154	962	34	2		2	HIST1H2BO	6	27861456	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	62437	27861456	143253611	70	1594										
ABCF1	23	hgsc.bcm.edu	37	chr6	30553422	30553422	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgcactgatatcatccacctCgatgcccagcggctccacta	7	16	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:30553422C>T	ENST00000326195.8	+	16	1675	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.L483L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	521	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCATCCACCTCGATGCCCAGC	0.532																																					p.L521L		Atlas-SNP	.											.	ABCF1	61	.	0			c.C1563T						PASS	.						118	109	113					6																	30553422		1511	2709	4220	SO:0001819	synonymous_variant	23	exon16			CCACCTCGATGCC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1563C>T	6.37:g.30553422C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	57	20	0.350877	NM_001025091	A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	CCDS34380.1																																																																																			.	.	none		0.532	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			T	30553422	C	T	30553422	2	4	8	1	0	0	0	0	0	0	0	1	65	871	31	1		1	ABCF1	6	30553422	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2691966	30553422	140561645	71	1595										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138423	37138423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aacgacctgcacgccaccaaGctggcgcccggtgagagcac	12	16	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:37138423G>A	ENST00000373509.5	+	1	445	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	115					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.K24N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACGCCACCAAGCTGGCGCCCG	0.726			T	BCL6	NHL																																p.K115K		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G345A						PASS	.						22	25	24					6																	37138423		2197	4289	6486	SO:0001819	synonymous_variant	5292	exon1			CACCAAGCTGGCG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.72G>A	6.37:g.37138423G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	92	26	0.282609	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.726	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138423	G	A	37138423	2	1	8	1	0	0	0	0	0	0	0	1	11927	962	34	2		2	PIM1	6	37138423	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	6585001	37138423	133976644	72	1596			3	12		5	5	665	N	G_C	1.259509e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37138804	37138804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cggatttccgactggggagaGctggtgagtgccctgcagga	17	9	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:37138804G>T	ENST00000373509.5	+	3	610	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	170					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.E79D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACTGGGGAGAGCTGGTGAGTG	0.687			T	BCL6	NHL																																p.E170D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,4	PIM1	71	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G510T						PASS	.						51	53	52					6																	37138804		2203	4300	6503	SO:0001583	missense	5292	exon3			GGGAGAGCTGGTG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.237G>T	6.37:g.37138804G>T	ENSP00000362608:p.Glu79Asp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	82	22	0.268293	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999653	0.35320	.	.	ENSG00000137193	ENST00000373509	T	0.66280	-0.2	4.44	0.389	0.16269	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068351	0.56097	D	0.000034	T	0.16938	0.0407	N	0.11023	0.085	0.34210	D	0.674133	B	0.15473	0.013	B	0.14578	0.011	T	0.02345	-1.1173	10	0.37606	T	0.19	.	4.6029	0.12363	0.4591:0.0:0.3935:0.1474	.	170	P11309	PIM1_HUMAN	D	79	ENSP00000362608:E79D	ENSP00000362608:E79D	E	+	3	2	PIM1	37246782	0.728000	0.28080	0.985000	0.45067	0.975000	0.68041	0.054000	0.14205	-0.042000	0.13535	0.549000	0.68633	GAG	.	.	none		0.687	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138804	G	T	37138804	3	4	8	1	0	0	0	0	1	0	0	0	11927	962	34	4	247	4	PIM1	6	37138804	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	381	37138804	133976263	73	1597			3	12		5	5	665	N	G_C	1.259509e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37138937	37138937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgcccatggaagtggtcctgCtgaagaaggtgagctcgggt	16	8	0	3	rs548710452	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:37138937C>T	ENST00000373509.5	+	4	650	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	184					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGTGGTCCTGCTGAAGAAGGT	0.657			T	BCL6	NHL								C|||	2	0.000399361	0.0	0.0	5008	,	,		14843	0.002		0.0	False		,,,				2504	0.0				p.L184L		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C550T						PASS	.						73	81	79					6																	37138937		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			GTCCTGCTGAAGA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.277C>T	6.37:g.37138937C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.657	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138937	C	T	37138937	2	4	8	1	0	0	0	0	0	0	0	1	11927	796	28	2		2	PIM1	6	37138937	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	133	37138937	133976130	74	1598			3	12		5	5	665	N	G_C	1.259509e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37138950	37138950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggtcctgctgaagaaggtgaGctcgggtttctccggcgtca	15	10	2	3	rs562319987		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:37138950G>C	ENST00000373509.5	+	4	663	c.290G>C	c.(289-291)aGc>aCc	p.S97T		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	188					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.S97N(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AAGAAGGTGAGCTCGGGTTTC	0.647			T	BCL6	NHL																																p.S188T		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,5	PIM1	71	5	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G563C						scavenged	.						82	91	88					6																	37138950		2203	4300	6503	SO:0001583	missense	5292	exon4			AGGTGAGCTCGGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.290G>C	6.37:g.37138950G>C	ENSP00000362608:p.Ser97Thr	Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	77	6	0.0779221	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709883	0.30322	.	.	ENSG00000137193	ENST00000373509	T	0.14640	2.49	4.14	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123358	0.56097	D	0.000035	T	0.06462	0.0166	L	0.48935	1.535	0.47037	D	0.99929	B	0.13145	0.007	B	0.18263	0.021	T	0.12811	-1.0533	10	0.16896	T	0.51	.	16.5618	0.84568	0.0:0.0:1.0:0.0	.	188	P11309	PIM1_HUMAN	T	97	ENSP00000362608:S97T	ENSP00000362608:S97T	S	+	2	0	PIM1	37246928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.570000	0.82390	2.283000	0.76528	0.549000	0.68633	AGC	.	.	none		0.647	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37138950	G	C	37138950	3	2	8	1	0	0	0	0	1	0	0	0	11927	971	34	4	304	4	PIM1	6	37138950	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	13	37138950	133976117	75	1599			3	12		5	5	665	N	G_C	1.259509e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37139087	37139087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggggagccctgcaagaggagCtggcccgcagcttcttctgg	16	12	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:37139087C>G	ENST00000373509.5	+	4	800	c.427C>G	c.(427-429)Ctg>Gtg	p.L143V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCAAGAGGAGCTGGCCCGCAG	0.612			T	BCL6	NHL																																p.L234V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	0			c.C700G						scavenged	.						58	69	66					6																	37139087		2203	4300	6503	SO:0001583	missense	5292	exon4			GAGGAGCTGGCCC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.427C>G	6.37:g.37139087C>G	ENSP00000362608:p.Leu143Val	Somatic	112	2	0.0178571		WXS	Illumina HiSeq	Phase_I	104	41	0.394231	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806101	0.16467	.	.	ENSG00000137193	ENST00000373509	T	0.65732	-0.17	4.19	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.414587	0.22060	N	0.065197	T	0.22781	0.0550	N	0.12471	0.22	0.44123	D	0.996902	B	0.22146	0.065	B	0.31751	0.135	T	0.08289	-1.0729	10	0.31617	T	0.26	.	3.7592	0.08598	0.3065:0.5026:0.0:0.1909	.	234	P11309	PIM1_HUMAN	V	143	ENSP00000362608:L143V	ENSP00000362608:L143V	L	+	1	2	PIM1	37247065	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	2.493000	0.45320	0.981000	0.38548	-0.480000	0.04831	CTG	.	.	none		0.612	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			G	37139087	C	G	37139087	3	3	8	1	0	0	0	0	1	0	0	0	11927	796	28	4	441	4	PIM1	6	37139087	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	137	37139087	133975980	76	1600			3	12		5	5	665	N	G_C	1.259509e-11
KIF6	221458	hgsc.bcm.edu	37	chr6	39563864	39563864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtagtgacaagttgatatacTtggcctctgttagaagatgg	12	5	1	4	rs150066437		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:39563864T>G	ENST00000287152.7	-	7	906	c.812A>C	c.(811-813)aAg>aCg	p.K271T	KIF6_ENST00000373213.4_Missense_Mutation_p.K110T|KIF6_ENST00000373216.3_Missense_Mutation_p.K271T|KIF6_ENST00000538893.1_Missense_Mutation_p.K271T|KIF6_ENST00000373215.3_Missense_Mutation_p.K271T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	271	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)|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						GTTGATATACTTGGCCTCTGT	0.438																																					p.K271T		Atlas-SNP	.											.	KIF6	233	.	0			c.A812C						PASS	.						109	100	103					6																	39563864		2203	4300	6503	SO:0001583	missense	221458	exon7			ATATACTTGGCCT	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.812A>C	6.37:g.39563864T>G	ENSP00000287152:p.Lys271Thr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	207	71	0.342995	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.15|16.15	3.041241|3.041241	0.55003|0.55003	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211|ENST00000458470	T;T;T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|T	0.46795|0.46795	0.1411|0.1411	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	1.0;0.929;0.959;1.0|.	D;P;P;D|.	0.85130|.	0.995;0.614;0.749;0.997|.	T|T	0.45116|0.45116	-0.9283|-0.9283	9|5	0.02654|.	T|.	1|.	.|.	14.7079|14.7079	0.69206|0.69206	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	271;271;271;271|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	T|R	271;271;110;271;271;58;62|163	ENSP00000287152:K271T;ENSP00000362312:K271T;ENSP00000362309:K110T;ENSP00000362311:K271T;ENSP00000441435:K271T;ENSP00000404856:K58T|.	ENSP00000287152:K271T|.	K|S	-|-	2|1	0|0	KIF6|KIF6	39671842|39671842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	8.040000|8.040000	0.89188|0.89188	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	AAG|AGT	T|1.000;C|0.000	.	alt		0.438	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		G	39563864	T	G	39563864	3	3	8	1	0	0	0	0	1	0	0	0	8308	1609	56	5	1700	5	KIF6	6	39563864	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	2424777	39563864	131551203	77	1601										
IMPG1	3617	hgsc.bcm.edu	37	chr6	76713610	76713610	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cctctgttataacagcaaaaGatgtgggcagctctgattgg	11	8	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:76713610G>T	ENST00000369950.3	-	11	1382	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AACAGCAAAAGATGTGGGCAG	0.378																																					p.S398Y	Pancreas(37;839 1141 2599 26037)	Atlas-SNP	.											.	IMPG1	143	.	0			c.C1193A						PASS	.						86	77	80					6																	76713610		2203	4300	6503	SO:0001583	missense	3617	exon11			GCAAAAGATGTGG	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1193C>A	6.37:g.76713610G>T	ENSP00000358966:p.Ser398Tyr	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	60	15	0.25	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817231	0.16607	.	.	ENSG00000112706	ENST00000369950	T	0.21734	1.99	4.32	1.36	0.22044	.	0.570121	0.16822	N	0.198108	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	P	0.46706	0.883	B	0.34722	0.188	T	0.34502	-0.9826	10	0.35671	T	0.21	.	2.3028	0.04166	0.2982:0.0:0.4574:0.2445	.	398	Q17R60	IMPG1_HUMAN	Y	398	ENSP00000358966:S398Y	ENSP00000358966:S398Y	S	-	2	0	IMPG1	76770330	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.090000	0.30902	0.138000	0.18790	0.563000	0.77884	TCT	.	.	none		0.378	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		T	76713610	G	T	76713610	3	4	8	1	0	0	0	0	1	0	0	0	7728	942	33	4	1228	4	IMPG1	6	76713610	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	37149746	76713610	94401457	78	1602										
KIF25	3834	hgsc.bcm.edu	37	chr6	168440827	168440827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agcaccccaccctggtgcacGcggattcctccaggtctcac	9	18	1	0	rs148907230	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr6:168440827G>A	ENST00000443060.2	+	7	968	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	KIF25_ENST00000354419.2_Missense_Mutation_p.A193T|KIF25_ENST00000351261.3_Missense_Mutation_p.A193T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCTGGTGCACGCGGATTCCTC	0.572													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.001				p.A193T		Atlas-SNP	.											.	KIF25	75	.	0			c.G577A						PASS	.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	85	74	78		577,577	3.6	0	6	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	KIF25	NM_005355.3,NM_030615.2	58,58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	193/333,193/385	168440827	3,13003	2203	4300	6503	SO:0001583	missense	3834	exon6			GTGCACGCGGATT	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.577G>A	6.37:g.168440827G>A	ENSP00000388878:p.Ala193Thr	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	49	14	0.285714	NM_030615	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479459	0.44044	0.0	3.49E-4	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.75477	-0.94;-0.94;-0.94	3.56	3.56	0.40772	Kinesin, motor domain (5);	0.256528	0.30879	N	0.008681	T	0.56381	0.1981	L	0.55743	1.74	0.26415	N	0.976198	P;B	0.42357	0.777;0.169	B;B	0.41691	0.364;0.046	T	0.53136	-0.8481	10	0.52906	T	0.07	-14.4088	10.5163	0.44892	0.0:0.0:1.0:0.0	.	193;193	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	T	193	ENSP00000388878:A193T;ENSP00000346401:A193T;ENSP00000252688:A193T	ENSP00000252688:A193T	A	+	1	0	KIF25	168183676	0.242000	0.23868	0.012000	0.15200	0.007000	0.05969	1.256000	0.32921	1.821000	0.53095	0.411000	0.27672	GCG	G|1.000;A|0.000	0.000	weak		0.572	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168440827	G	A	168440827	3	1	8	1	0	0	0	0	1	0	0	0	8293	1087	38	1	595	1	KIF25	6	168440827	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	91727217	168440827	2674240	79	1603										
THSD7A	221981	hgsc.bcm.edu	37	chr7	11418733	11418733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tagaaaccaggtccttccccGtcctgctgggttactggagg	12	12	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:11418733G>A	ENST00000423059.4	-	26	5016	c.4765C>T	c.(4765-4767)Cgg>Tgg	p.R1589W	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1589					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCCTTCCCCGTCCTGCTGGG	0.493										HNSCC(18;0.044)																											p.R1589W		Atlas-SNP	.											THSD7A,NS,carcinoma,+2,1	THSD7A	219	1	0			c.C4765T						PASS	.						101	100	100					7																	11418733		1895	4112	6007	SO:0001583	missense	221981	exon25			TTCCCCGTCCTGC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4765C>T	7.37:g.11418733G>A	ENSP00000406482:p.Arg1589Trp	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	288	110	0.381944	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066037	0.76187	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59502	0.26	5.87	3.08	0.35506	.	0.226724	0.46145	N	0.000304	T	0.56124	0.1964	L	0.38175	1.15	0.37238	D	0.906008	D;D	0.69078	0.997;0.997	P;P	0.57468	0.821;0.821	T	0.58973	-0.7541	10	0.54805	T	0.06	.	5.9024	0.18974	0.2052:0.0:0.6592:0.1356	.	1589;1589	Q9UPZ6;C9JL67	THS7A_HUMAN;.	W	1589	ENSP00000406482:R1589W	ENSP00000262042:R1589W	R	-	1	2	THSD7A	11385258	0.960000	0.32886	0.994000	0.49952	0.996000	0.88848	0.464000	0.21988	0.382000	0.24878	0.650000	0.86243	CGG	.	.	none		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		A	11418733	G	A	11418733	3	1	8	1	0	0	0	0	1	0	0	0	15876	1144	40	1	220	1	THSD7A	7	11418733	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		11418733	147719930	80	1604										
C7orf65	401335	hgsc.bcm.edu	37	chr7	47694914	47694914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agagtcaacagaaggaagacGgctctggccgggccccaggg	16	11	2	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:47694914G>A	ENST00000408988.2	+	1	73	c.38G>A	c.(37-39)cGg>cAg	p.R13Q		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	13										endometrium(1)|lung(2)	3						GAAGGAAGACGGCTCTGGCCG	0.622																																					p.R13Q		Atlas-SNP	.											.	C7orf65	18	.	0			c.G38A						PASS	.						47	52	51					7																	47694914		1568	3582	5150	SO:0001583	missense	401335	exon1			GAAGACGGCTCTG		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.38G>A	7.37:g.47694914G>A	ENSP00000386198:p.Arg13Gln	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	197	18	0.0913706	NM_001123065	A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	G	9.775	1.173730	0.21704	.	.	ENSG00000221845	ENST00000408988	.	.	.	2.48	-0.944	0.10392	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.20009	-1.0288	8	0.87932	D	0	.	5.4423	0.16515	0.6062:0.0:0.3938:0.0	.	13	Q6ZTY9	CG065_HUMAN	Q	13	.	ENSP00000386198:R13Q	R	+	2	0	C7orf65	47661439	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.321000	0.08018	-0.248000	0.09583	-0.123000	0.14984	CGG	.	.	none		0.622	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065		A	47694914	G	A	47694914	3	1	8	1	0	0	0	0	1	0	0	0	2411	1116	39	1	40	1	C7orf65	7	47694914	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	36276181	47694914	111443749	81	1605										
FKBP6	8468	hgsc.bcm.edu	37	chr7	72743416	72743416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gacccttcgattctaattacTttaggaaaactcctcggcta	6	11	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:72743416T>G	ENST00000252037.4	+	3	298	c.229T>G	c.(229-231)Ttt>Gtt	p.F77V	FKBP6_ENST00000431982.2_Missense_Mutation_p.F72V|FKBP6_ENST00000413573.2_Intron|TRIM50_ENST00000333149.2_5'Flank|TRIM50_ENST00000493498.1_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	77	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTCTAATTACTTTAGGAAAAC	0.448																																					p.F77V		Atlas-SNP	.											.	FKBP6	35	.	0			c.T229G						PASS	.						179	178	178					7																	72743416		2203	4300	6503	SO:0001583	missense	8468	exon3			AATTACTTTAGGA	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.229T>G	7.37:g.72743416T>G	ENSP00000252037:p.Phe77Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	96	32	0.333333	NM_003602	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484818	0.26598	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000252037	D;D;D	0.85411	-1.98;-1.98;-1.98	4.76	2.36	0.29203	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.301814	0.36101	N	0.002792	T	0.64283	0.2584	N	0.08118	0	0.30677	N	0.752777	B;B	0.20988	0.05;0.005	B;B	0.21360	0.034;0.03	T	0.52939	-0.8508	10	0.15499	T	0.54	-9.3851	4.5343	0.12020	0.1432:0.1673:0.0:0.6895	.	72;77	O75344-2;O75344	.;FKBP6_HUMAN	V	72;72;77	ENSP00000416277:F72V;ENSP00000402360:F72V;ENSP00000252037:F77V	ENSP00000252037:F77V	F	+	1	0	FKBP6	72381352	0.006000	0.16342	0.983000	0.44433	0.769000	0.43574	1.100000	0.31025	0.208000	0.20626	-0.611000	0.04053	TTT	.	.	none		0.448	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		G	72743416	T	G	72743416	3	3	8	1	0	0	0	0	1	0	0	0	5912	1609	56	5	285	5	FKBP6	7	72743416	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	25048502	72743416	86395247	82	1606										
PCLO	27445	hgsc.bcm.edu	37	chr7	82583245	82583245	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tattacagaagaaggtgggtGatcaaacacggtttcggata	12	5	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:82583245G>T	ENST00000333891.9	-	5	7361	c.7024C>A	c.(7024-7026)Cac>Aac	p.H2342N	PCLO_ENST00000423517.2_Missense_Mutation_p.H2342N	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						GAAGGTGGGTGATCAAACACG	0.423																																					p.H2342N		Atlas-SNP	.											.	PCLO	1506	.	0			c.C7024A						PASS	.						90	92	91					7																	82583245		1870	4105	5975	SO:0001583	missense	27445	exon5			GTGGGTGATCAAA	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.7024C>A	7.37:g.82583245G>T	ENSP00000334319:p.His2342Asn	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	195	23	0.117949	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.129	0.782662	0.16189	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15487	2.42;2.42	4.75	4.75	0.60458	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.58432	D	0.999995	B;B	0.16396	0.017;0.017	B;B	0.13407	0.009;0.009	T	0.10823	-1.0613	9	0.87932	D	0	.	13.4843	0.61355	0.0:0.1571:0.8429:0.0	.	2342;2342	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2273;2342;2342	ENSP00000334319:H2342N;ENSP00000388393:H2342N	ENSP00000334319:H2342N	H	-	1	0	PCLO	82421181	0.840000	0.29493	0.029000	0.17559	0.660000	0.38997	3.412000	0.52679	2.169000	0.68431	0.505000	0.49811	CAC	.	.	none		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82583245	G	T	82583245	3	4	8	1	0	0	0	0	1	0	0	0	11583	1290	45	4	8505	4	PCLO	7	82583245	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	9839829	82583245	76555418	83	1607										
SEMA3D	223117	hgsc.bcm.edu	37	chr7	84685039	84685039	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	taaatatatcttgccttacaAactcttccaactcgagaaag	4	10	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:84685039A>G	ENST00000284136.6	-	7	898	c.855T>C	c.(853-855)gtT>gtC	p.V285V	SEMA3D_ENST00000444867.1_Silent_p.V285V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	285	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTGCCTTACAAACTCTTCCAA	0.259																																					p.V285V	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.T855C						PASS	.																																			SO:0001819	synonymous_variant	223117	exon7			CTTACAAACTCTT	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.855T>C	7.37:g.84685039A>G		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	49	19	0.387755	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																			.	.	none		0.259	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		G	84685039	A	G	84685039	2	3	8	1	0	0	0	0	0	0	0	1	14027	1	1	2		2	SEMA3D	7	84685039	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	2101794	84685039	74453624	84	1608										
EPHB4	2050	hgsc.bcm.edu	37	chr7	100420197	100420197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tagaagccagccttgctgagCggtcccagacgcagcgtctt	12	13	1	3	rs532613401		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:100420197C>T	ENST00000358173.3	-	4	972	c.504G>A	c.(502-504)ccG>ccA	p.P168P	EPHB4_ENST00000360620.3_Silent_p.P168P|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	168	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTTGCTGAGCGGTCCCAGAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15631	0.0		0.0	False		,,,				2504	0.0				p.P168P	GBM(200;2113 3072 25865 52728)	Atlas-SNP	.											.	EPHB4	106	.	0			c.G504A						PASS	.						44	44	44					7																	100420197		2203	4300	6503	SO:0001819	synonymous_variant	2050	exon4			GCTGAGCGGTCCC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.504G>A	7.37:g.100420197C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	86	18	0.209302	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																			.	.	none		0.657	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		T	100420197	C	T	100420197	2	4	8	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EPHB4	7	100420197	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	15735158	100420197	58718466	85	1609										
SLC26A3	1811	hgsc.bcm.edu	37	chr7	107408040	107408040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttacctcatatacccgattaCgtaatcctccatttgtattt	3	11	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:107408040C>T	ENST00000340010.5	-	20	2439	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	752					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACCCGATTACGTAATCCTCC	0.343																																					p.R752H		Atlas-SNP	.											SLC26A3,NS,carcinoma,0,4	SLC26A3	120	4	0			c.G2255A						PASS	.						101	105	103					7																	107408040		2203	4299	6502	SO:0001583	missense	1811	exon20			CGATTACGTAATC	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2255G>A	7.37:g.107408040C>T	ENSP00000345873:p.Arg752His	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	156	40	0.25641	NM_000111		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415080	0.42817	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94613	-3.47;-3.31	4.64	3.77	0.43336	.	0.392271	0.27961	N	0.017141	D	0.90013	0.6882	L	0.46885	1.475	0.25690	N	0.985706	B;B	0.29955	0.163;0.263	B;B	0.20767	0.029;0.031	T	0.81976	-0.0686	10	0.38643	T	0.18	.	10.1245	0.42641	0.0:0.9054:0.0:0.0946	.	639;752	G5E9U3;P40879	.;S26A3_HUMAN	H	639;752	ENSP00000415817:R639H;ENSP00000345873:R752H	ENSP00000345873:R752H	R	-	2	0	SLC26A3	107195276	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.672000	0.37523	1.185000	0.42971	0.644000	0.83932	CGT	.	.	none		0.343	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		T	107408040	C	T	107408040	3	4	8	1	0	0	0	0	1	0	0	0	14518	536	19	1	47	1	SLC26A3	7	107408040	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	6987843	107408040	51730623	86	1610										
OR6V1	346517	hgsc.bcm.edu	37	chr7	142749645	142749645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	atttttccctgctggagatcTtggtaaccatgactgcagtg	10	9	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:142749645T>C	ENST00000418316.1	+	1	229	c.208T>C	c.(208-210)Ttg>Ctg	p.L70L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCTGGAGATCTTGGTAACCAT	0.488																																					p.L70L		Atlas-SNP	.											OR6V1_ENST00000418316,NS,carcinoma,-2,2	OR6V1	77	2	0			c.T208C						scavenged	.						248	240	243					7																	142749645		2025	4202	6227	SO:0001819	synonymous_variant	346517	exon1			GAGATCTTGGTAA		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.208T>C	7.37:g.142749645T>C		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	198	4	0.020202	NM_001001667	A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	CCDS47728.1																																																																																			.	.	none		0.488	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			C	142749645	T	C	142749645	2	2	8	1	0	0	0	0	0	0	0	1	11211	1606	56	3		3	OR6V1	7	142749645	Silent	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	35341605	142749645	16389018	87	1611										
ZNF746	155061	hgsc.bcm.edu	37	chr7	149190046	149190046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aatctgggagaggacctcggGcttggagatggcgtagtctg	17	7	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr7:149190046G>A	ENST00000340622.3	-	4	704	c.424C>T	c.(424-426)Ccc>Tcc	p.P142S	ZNF746_ENST00000461958.2_Missense_Mutation_p.P142S|ZNF746_ENST00000458143.2_Missense_Mutation_p.P142S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	142	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGACCTCGGGCTTGGAGATG	0.552																																					p.P142S		Atlas-SNP	.											ZNF746,NS,neuroblastoma,0,1	ZNF746	68	1	0			c.C424T						scavenged	.						75	64	68					7																	149190046		2203	4300	6503	SO:0001583	missense	155061	exon4			CCTCGGGCTTGGA	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.424C>T	7.37:g.149190046G>A	ENSP00000345140:p.Pro142Ser	Somatic	107	2	0.0186916		WXS	Illumina HiSeq	Phase_I	86	6	0.0697674	NM_001163474	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295226	0.60086	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.00966	5.49;5.49	5.33	5.33	0.75918	Krueppel-associated box (3);	0.000000	0.45361	D	0.000365	T	0.04137	0.0115	L	0.52573	1.65	0.41412	D	0.987746	B;D	0.89917	0.357;1.0	B;D	0.80764	0.413;0.994	T	0.48340	-0.9044	10	0.87932	D	0	-17.1738	16.5039	0.84264	0.0:0.0:1.0:0.0	.	142;142	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	S	142;142;129	ENSP00000345140:P142S;ENSP00000395007:P142S	ENSP00000345140:P142S	P	-	1	0	ZNF746	148820979	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.158000	0.42329	2.497000	0.84241	0.609000	0.83330	CCC	.	.	none		0.552	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		A	149190046	G	A	149190046	3	1	8	1	0	0	0	0	1	0	0	0	18126	1203	42	2	1529	2	ZNF746	7	149190046	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	6440401	149190046	9948617	88	1612										
TNKS	8658	hgsc.bcm.edu	37	chr8	9567708	9567708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccataatgatgtcatggaagTtctgcataagcatggcgcca	10	9	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:9567708T>G	ENST00000310430.6	+	11	1753	c.1727T>G	c.(1726-1728)gTt>gGt	p.V576G	TNKS_ENST00000518281.1_Missense_Mutation_p.V339G|TNKS_ENST00000520408.1_Missense_Mutation_p.V576G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	576					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTCATGGAAGTTCTGCATAAG	0.488																																					p.V576G		Atlas-SNP	.											.	TNKS	198	.	0			c.T1727G						PASS	.						67	62	63					8																	9567708		2203	4300	6503	SO:0001583	missense	8658	exon11			TGGAAGTTCTGCA	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1727T>G	8.37:g.9567708T>G	ENSP00000311579:p.Val576Gly	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	122	29	0.237705	NM_003747	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720979	0.89205	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.65916	-0.18;-0.18;-0.18	5.53	5.53	0.82687	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.70787	2.145	0.80722	D	1	D;P	0.71674	0.998;0.607	D;P	0.72982	0.979;0.589	T	0.77558	-0.2543	10	0.41790	T	0.15	.	15.6624	0.77197	0.0:0.0:0.0:1.0	.	576;576	E7EWY6;O95271	.;TNKS1_HUMAN	G	576;576;339	ENSP00000428299:V576G;ENSP00000311579:V576G;ENSP00000429890:V339G	ENSP00000311579:V576G	V	+	2	0	TNKS	9605118	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.022000	0.88759	2.095000	0.63458	0.533000	0.62120	GTT	.	.	none		0.488	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		G	9567708	T	G	9567708	3	3	8	1	0	0	0	0	1	0	0	0	16316	1725	60	5	1769	5	TNKS	8	9567708	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10		9567708	136796314	89	1613										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17611707	17611707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	atgagggtgatgaggcactgGtctgctgaggtctgggcgtg	19	6	2	4			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:17611707G>T	ENST00000262102.6	-	2	1834	c.1610C>A	c.(1609-1611)aCc>aAc	p.T537N	MTUS1_ENST00000381862.3_Missense_Mutation_p.T537N|MTUS1_ENST00000381869.3_Missense_Mutation_p.T537N|MTUS1_ENST00000519263.1_Missense_Mutation_p.T537N	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	537					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGAGGCACTGGTCTGCTGAGG	0.438																																					p.T537N		Atlas-SNP	.											MTUS1,colon,carcinoma,0,3	MTUS1	144	3	0			c.C1610A						PASS	.						214	206	209					8																	17611707		2077	4205	6282	SO:0001583	missense	57509	exon2			GCACTGGTCTGCT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1610C>A	8.37:g.17611707G>T	ENSP00000262102:p.Thr537Asn	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	196	59	0.30102	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063884	0.36373	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.37752	3.02;1.18;3.02;2.04	5.1	3.23	0.37069	.	0.444177	0.20589	N	0.089392	T	0.25195	0.0612	L	0.29908	0.895	0.09310	N	1	P;B;B	0.43287	0.802;0.091;0.091	B;B;B	0.36719	0.231;0.018;0.018	T	0.08764	-1.0706	10	0.72032	D	0.01	-0.6686	11.7274	0.51716	0.0:0.1343:0.726:0.1397	.	537;537;537	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	N	537	ENSP00000371293:T537N;ENSP00000262102:T537N;ENSP00000430167:T537N;ENSP00000371286:T537N	ENSP00000262102:T537N	T	-	2	0	MTUS1	17655987	0.002000	0.14202	0.001000	0.08648	0.541000	0.35023	1.088000	0.30877	0.803000	0.34113	0.650000	0.86243	ACC	.	.	none		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17611707	G	T	17611707	3	4	8	1	0	0	0	0	1	0	0	0	9965	1261	44	4	2577	4	MTUS1	8	17611707	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	8043999	17611707	128752315	90	1614										
UNC5D	137970	hgsc.bcm.edu	37	chr8	35624423	35624423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctccgtctcccctgcaggaaGtcccgttctcccgcgtgtgg	11	17	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:35624423G>A	ENST00000404895.2	+	15	2645	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	UNC5D_ENST00000453357.2_Missense_Mutation_p.V768I|UNC5D_ENST00000420357.1_Missense_Mutation_p.V706I|UNC5D_ENST00000287272.2_Missense_Mutation_p.V704I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V778I|UNC5D_ENST00000449677.1_Missense_Mutation_p.V349I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	773					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTGCAGGAAGTCCCGTTCTC	0.552																																					p.V773I		Atlas-SNP	.											.	UNC5D	393	.	0			c.G2317A						PASS	.						83	71	75					8																	35624423		2203	4300	6503	SO:0001583	missense	137970	exon15			CAGGAAGTCCCGT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2317G>A	8.37:g.35624423G>A	ENSP00000385143:p.Val773Ile	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	63	14	0.222222	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	8.206	0.799214	0.16397	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.39997	1.08;1.55;1.58;1.09;1.05;3.01	5.79	5.79	0.91817	.	0.055301	0.64402	D	0.000001	T	0.21801	0.0525	N	0.04018	-0.295	0.47737	D	0.999503	B;B;B	0.26445	0.149;0.095;0.149	B;B;B	0.20955	0.025;0.032;0.014	T	0.18777	-1.0326	10	0.02654	T	1	-26.7072	20.0411	0.97590	0.0:0.0:1.0:0.0	.	349;768;773	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	773;706;704;778;768;349	ENSP00000385143:V773I;ENSP00000392739:V706I;ENSP00000287272:V704I;ENSP00000412652:V778I;ENSP00000394303:V768I;ENSP00000397211:V349I	ENSP00000287272:V704I	V	+	1	0	UNC5D	35743965	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.193000	0.65120	2.739000	0.93911	0.655000	0.94253	GTC	.	.	none		0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35624423	G	A	35624423	3	1	8	1	0	0	0	0	1	0	0	0	16992	1029	36	2	2375	2	UNC5D	8	35624423	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	18012716	35624423	110739599	91	1615										
RAB11FIP1	80223	hgsc.bcm.edu	37	chr8	37729420	37729420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gatctattctttcatcatccGatgcgacttcaggaatggaa	8	9	5	0	rs560008452		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:37729420G>A	ENST00000330843.4	-	4	2912	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	967					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTCATCATCCGATGCGACTTC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23664	0.0		0.0	False		,,,				2504	0.0				p.S967L		Atlas-SNP	.											.	RAB11FIP1	105	.	0			c.C2900T						PASS	.						157	130	139					8																	37729420		2203	4300	6503	SO:0001583	missense	80223	exon4			TCATCCGATGCGA	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2900C>T	8.37:g.37729420G>A	ENSP00000331342:p.Ser967Leu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	103	7	0.0679612	NM_001002814	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342297	0.81911	.	.	ENSG00000156675	ENST00000330843	T	0.26660	1.72	5.33	5.33	0.75918	.	0.000000	0.45867	D	0.000321	T	0.41511	0.1162	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.14952	-1.0454	10	0.45353	T	0.12	-12.8301	17.2186	0.86951	0.0:0.0:1.0:0.0	.	296;967	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	L	967	ENSP00000331342:S967L	ENSP00000331342:S967L	S	-	2	0	RAB11FIP1	37848578	0.999000	0.42202	0.119000	0.21687	0.783000	0.44284	5.604000	0.67626	2.491000	0.84063	0.655000	0.94253	TCG	.	.	none		0.453	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		A	37729420	G	A	37729420	3	1	8	1	0	0	0	0	1	0	0	0	12893	1059	37	1	963	1	RAB11FIP1	8	37729420	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2104997	37729420	108634602	92	1616										
IDO2	169355	hgsc.bcm.edu	37	chr8	39872937	39872937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggcagagctgcggagctatcAcatcaccatggtcaccaaat	10	12	3	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:39872937A>T	ENST00000389060.4	+	10	1040	c.1040A>T	c.(1039-1041)cAc>cTc	p.H347L	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.H360L			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	347					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CGGAGCTATCACATCACCATG	0.547																																					p.H360L		Atlas-SNP	.											.	IDO2	78	.	0			c.A1079T						PASS	.						80	79	80					8																	39872937		2080	4202	6282	SO:0001583	missense	169355	exon11			GCTATCACATCAC	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1040A>T	8.37:g.39872937A>T	ENSP00000426447:p.His347Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	87	32	0.367816	NM_194294	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.459110	0.84317	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	D;D	0.93712	-3.27;-3.27	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.95504	3.68	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98886	1.0771	9	.	.	.	.	15.5325	0.75974	1.0:0.0:0.0:0.0	.	360;347	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	L	360;347	ENSP00000443432:H360L;ENSP00000426447:H347L	.	H	+	2	0	IDO2	39992094	1.000000	0.71417	0.999000	0.59377	0.717000	0.41224	6.577000	0.74027	2.252000	0.74401	0.533000	0.62120	CAC	.	.	none		0.547	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		T	39872937	A	T	39872937	3	4	8	1	0	0	0	0	1	0	0	0	7502	159	6	5	1121	5	IDO2	8	39872937	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	2143517	39872937	106491085	93	1617										
HNF4G	3174	hgsc.bcm.edu	37	chr8	76463645	76463645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtacaaaatgaacgtgacagAataagcaccagaagaagcac	9	8	0	5			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:76463645A>C	ENST00000354370.1	+	5	534	c.264A>C	c.(262-264)agA>agC	p.R88S	HNF4G_ENST00000396423.2_Missense_Mutation_p.R125S			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	88					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACGTGACAGAATAAGCACCA	0.423																																					p.R125S		Atlas-SNP	.											.	HNF4G	111	.	0			c.A375C						PASS	.						134	105	115					8																	76463645		2203	4300	6503	SO:0001583	missense	3174	exon4			TGACAGAATAAGC		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.264A>C	8.37:g.76463645A>C	ENSP00000346339:p.Arg88Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	49	9	0.183673	NM_004133	Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37		.	.	.	.	.	.	.	.	.	.	A	18.28	3.589200	0.66105	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94687	-3.49;-3.49	5.07	3.74	0.42951	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	M	0.81942	2.565	0.58432	D	0.999992	B;P	0.41784	0.269;0.762	B;B	0.43194	0.141;0.411	D	0.92226	0.5788	10	0.72032	D	0.01	.	3.366	0.07203	0.6409:0.0:0.3591:0.0	.	125;88	F1D8Q4;Q14541	.;HNF4G_HUMAN	S	88;125	ENSP00000346339:R88S;ENSP00000379701:R125S	ENSP00000346339:R88S	R	+	3	2	HNF4G	76626200	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	2.625000	0.46452	2.026000	0.59711	0.528000	0.53228	AGA	.	.	none		0.423	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		C	76463645	A	C	76463645	3	2	8	1	0	0	0	0	1	0	0	0	7254	243	9	5	389	5	HNF4G	8	76463645	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	36590708	76463645	69900377	94	1618										
EIF3E	3646	hgsc.bcm.edu	37	chr8	109215229	109215229	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tacctctgacctgctattctGattaagtttcttctcaatat	4	10	4	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:109215229G>A	ENST00000220849.5	-	12	1344	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	EIF3E_ENST00000519030.1_Nonsense_Mutation_p.Q335*|EIF3E_ENST00000519517.1_5'Flank	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.Q428*(3)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CTGCTATTCTGATTAAGTTTC	0.383																																					p.Q428X	GBM(15;360 410 8460 34179 52246)	Atlas-SNP	.											EIF3E,NS,carcinoma,0,3	EIF3E	73	3	3	Substitution - Nonsense(3)	endometrium(3)	c.C1282T						PASS	.						160	144	150					8																	109215229		2203	4300	6503	SO:0001587	stop_gained	3646	exon12			TATTCTGATTAAG	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1282C>T	8.37:g.109215229G>A	ENSP00000220849:p.Gln428*	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	115	41	0.356522	NM_001568		Nonsense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.746950|4.746950	0.89663|0.89663	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519030|ENST00000522352	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.213853|.	0.50627|.	D|.	0.000113|.	.|T	.|0.71728	.|0.3374	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69587	.|-0.5105	.|4	0.06625|.	T|.	0.88|.	-9.9569|-9.9569	15.4346|15.4346	0.75137|0.75137	0.0:0.0:0.8605:0.1395|0.0:0.0:0.8605:0.1395	.|.	.|.	.|.	.|.	X|L	428;335|138	.|.	ENSP00000220849:Q428X|.	Q|S	-|-	1|2	0|0	EIF3E|EIF3E	109284405|109284405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.670000|4.670000	0.61583|0.61583	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	CAG|TCA	.	.	none		0.383	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		A	109215229	G	A	109215229	4	1	8	1	0	0	0	0	0	1	0	0	5015	1299	45	2	63	2	EIF3E	8	109215229	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	32751584	109215229	37148793	95	1619										
TRAPPC9	83696	hgsc.bcm.edu	37	chr8	141468446	141468448	+	5'Flank	DEL	GAA	GAA	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcaggggtggaggccccgcgGaagcccactgtggatccctg							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr8:141468446_141468448delGAA	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389327.3_5'Flank|TRAPPC9_ENST00000389328.4_In_Frame_Del_p.S73del	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGCCCCGCGGAAGCCCACTGTG	0.68																																					p.73_73del		Pindel,Atlas-Indel	.											.	TRAPPC9	114	.	0			c.217_219del						PASS	.																																			SO:0001631	upstream_gene_variant	83696	exon1			.	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		8.37:g.141468446_141468448delGAA	Exception_encountered	Somatic	137	.	.		WXS	Illumina HiSeq	Phase_I	120	24	0.2	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	In_Frame_Del	DEL	ENST00000438773.2	37	CCDS55278.1																																																																																			.	.	none		0.68	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		-	141468448	GAA	-	141468446	6	5	8	0	1	1	0	1	0	0	0	0	16462	1174	41	0		0	TRAPPC9	8	141468446	5'Flank	DEL	GAA	TCGA-FA-A82F-01A-11D-A382-10	32253217	141468446	4895576	96	1620										
TLN1	7094	hgsc.bcm.edu	37	chr9	35720844	35720844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	atcgatgtagccggcaatgaGctgtgcaatctgctcccctt	10	12	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:35720844G>A	ENST00000314888.9	-	11	1524	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	TLN1_ENST00000540444.1_Missense_Mutation_p.L391F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	391	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCAATGAGCTGTGCAATC	0.512																																					p.L391F		Atlas-SNP	.											.	TLN1	185	.	0			c.C1171T						PASS	.						163	137	146					9																	35720844		2203	4300	6503	SO:0001583	missense	7094	exon11			CAATGAGCTGTGC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1171C>T	9.37:g.35720844G>A	ENSP00000316029:p.Leu391Phe	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	59	9	0.152542	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425854	0.96131	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73897	-0.79;-0.79	5.71	5.71	0.89125	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.89054	0.6606	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90327	0.4349	10	0.87932	D	0	-10.4026	19.8677	0.96824	0.0:0.0:1.0:0.0	.	391	Q9Y490	TLN1_HUMAN	F	391	ENSP00000316029:L391F;ENSP00000442981:L391F	ENSP00000316029:L391F	L	-	1	0	TLN1	35710844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.753000	0.68736	2.709000	0.92574	0.655000	0.94253	CTC	.	.	none		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35720844	G	A	35720844	3	1	8	1	0	0	0	0	1	0	0	0	15944	971	34	2	6642	2	TLN1	9	35720844	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		35720844	105492587	97	1621										
GRHPR	9380	hgsc.bcm.edu	37	chr9	37424891	37424891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agcccatccctgccaaggagCtagagcgaggtgtggcgggg	17	11	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:37424891C>G	ENST00000318158.6	+	2	218	c.133C>G	c.(133-135)Cta>Gta	p.L45V	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Missense_Mutation_p.L45V	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	45					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGCCAAGGAGCTAGAGCGAGG	0.667																																					p.L45V		Atlas-SNP	.											.	GRHPR	35	.	0			c.C133G						PASS	.						51	48	49					9																	37424891		2203	4300	6503	SO:0001583	missense	9380	exon2			AAGGAGCTAGAGC	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.133C>G	9.37:g.37424891C>G	ENSP00000313432:p.Leu45Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	45	9	0.2	NM_012203	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950791	0.53186	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.86497	-2.13;-2.13	5.98	4.14	0.48551	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.71206	2.165	0.80722	D	1	P	0.52577	0.954	P	0.61800	0.894	D	0.91620	0.5310	10	0.72032	D	0.01	-4.6267	11.2546	0.49045	0.0:0.8007:0.0:0.1993	.	45	Q9UBQ7	GRHPR_HUMAN	V	45	ENSP00000367055:L45V;ENSP00000313432:L45V	ENSP00000313432:L45V	L	+	1	2	GRHPR	37414891	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	2.842000	0.48230	1.558000	0.49541	0.650000	0.86243	CTA	.	.	none		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		G	37424891	C	G	37424891	3	3	8	1	0	0	0	0	1	0	0	0	6766	796	28	4	139	4	GRHPR	9	37424891	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	1704047	37424891	103788540	98	1622										
RASEF	158158	hgsc.bcm.edu	37	chr9	85597645	85597645	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctttttggaattggtcccggTtagattggtaatggatctgc	12	6	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:85597645T>A	ENST00000376447.3	-	17	2430	c.2170A>T	c.(2170-2172)Acc>Tcc	p.T724S		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	724					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTGGTCCCGGTTAGATTGGTA	0.428																																					p.T724S		Atlas-SNP	.											.	RASEF	69	.	0			c.A2170T						PASS	.						390	359	369					9																	85597645		2203	4300	6503	SO:0001583	missense	158158	exon17			TCCCGGTTAGATT	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2170A>T	9.37:g.85597645T>A	ENSP00000365630:p.Thr724Ser	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	216	54	0.25	NM_152573	A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	1.831	-0.469844	0.04445	.	.	ENSG00000165105	ENST00000376447	T	0.60299	0.2	5.05	2.74	0.32292	.	0.565295	0.19132	N	0.121917	T	0.23806	0.0576	N	0.03608	-0.345	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.07482	T	0.82	.	2.812	0.05444	0.1889:0.2494:0.0:0.5616	.	724	Q8IZ41	RASEF_HUMAN	S	724	ENSP00000365630:T724S	ENSP00000365630:T724S	T	-	1	0	RASEF	84787465	0.035000	0.19736	0.053000	0.19242	0.783000	0.44284	0.275000	0.18698	0.795000	0.33922	0.482000	0.46254	ACC	.	.	none		0.428	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		A	85597645	T	A	85597645	3	1	8	1	0	0	0	0	1	0	0	0	13068	1725	60	5	56	5	RASEF	9	85597645	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	48172754	85597645	55615786	99	1623										
C9orf79	286234	hgsc.bcm.edu	37	chr9	90502053	90502053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctgggcctcctgggtatctcGggttgaatctgtacccaagg	13	11	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:90502053G>T	ENST00000325643.5	+	4	2717	c.2651G>T	c.(2650-2652)cGg>cTg	p.R884L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	884					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R884L(1)									TGGGTATCTCGGGTTGAATCT	0.562																																					p.R884L		Atlas-SNP	.											C9orf79,NS,carcinoma,-1,1	.	.	1	1	Substitution - Missense(1)	lung(1)	c.G2651T						PASS	.						43	41	42					9																	90502053		2203	4300	6503	SO:0001583	missense	286234	exon4			TATCTCGGGTTGA	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2651G>T	9.37:g.90502053G>T	ENSP00000322640:p.Arg884Leu	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	37	11	0.297297	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	5.225	0.227059	0.09916	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03951	3.75	2.41	-3.47	0.04753	.	1.897450	0.02755	N	0.117952	T	0.04182	0.0116	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.41215	-0.9521	10	0.40728	T	0.16	.	4.3943	0.11355	0.5512:0.1897:0.259:0.0	.	884;536	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	884;536	ENSP00000322640:R884L	ENSP00000322640:R884L	R	+	2	0	C9orf79	89691873	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.059000	0.30517	-0.998000	0.03446	-0.259000	0.10710	CGG	.	.	none		0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90502053	G	T	90502053	3	4	8	1	0	0	0	0	1	0	0	0	2497	1116	39	4	2665	4	C9orf79	9	90502053	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	4904408	90502053	50711378	100	1624										
ASTN2	23245	hgsc.bcm.edu	37	chr9	120053673	120053673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gggctcctggagagtgggggCggtggcttgggccagctgcc	21	10	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:120053673C>T	ENST00000313400.4	-	2	662	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A188T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A188T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	188					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGAGTGGGGGCGGTGGCTTGG	0.612																																					p.A188T		Atlas-SNP	.											.	ASTN2	307	.	0			c.G562A						PASS	.						58	59	59					9																	120053673		2203	4300	6503	SO:0001583	missense	23245	exon2			TGGGGGCGGTGGC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.562G>A	9.37:g.120053673C>T	ENSP00000314038:p.Ala188Thr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	102	30	0.294118	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	19.69	3.874260	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.09911	2.94;2.94;2.93	5.06	2.05	0.26809	.	0.244788	0.32548	N	0.005950	T	0.06917	0.0176	N	0.24115	0.695	0.32617	N	0.523907	P;B;P	0.44627	0.769;0.003;0.839	B;B;B	0.42188	0.113;0.001;0.379	T	0.25222	-1.0138	9	.	.	.	-22.1157	6.4925	0.22123	0.0:0.5158:0.3027:0.1815	.	188;188;188	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	188	ENSP00000314038:A188T;ENSP00000363108:A188T;ENSP00000354504:A188T	.	A	-	1	0	ASTN2	119093494	0.958000	0.32768	0.990000	0.47175	0.990000	0.78478	1.685000	0.37659	0.840000	0.34995	-0.119000	0.15052	GCC	.	.	none		0.612	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	120053673	C	T	120053673	3	4	8	1	0	0	0	0	1	0	0	0	1065	768	27	1	3620	1	ASTN2	9	120053673	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	29551620	120053673	21159758	101	1625										
ADAMTS13	11093	hgsc.bcm.edu	37	chr9	136310909	136310909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcacacgtgtggacccctgcGgcagggtcgtgctccgtctc	14	15	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:136310909G>A	ENST00000371929.3	+	21	3144	c.2700G>A	c.(2698-2700)gcG>gcA	p.A900A	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.A869A|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.A900A|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	900	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.		A -> V (in dbSNP:rs685523). {ECO:0000269|PubMed:11557746, ECO:0000269|PubMed:11586351, ECO:0000269|Ref.6}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGACCCCTGCGGCAGGGTCGT	0.662																																					p.A900A		Atlas-SNP	.											.	ADAMTS13	113	.	0			c.G2700A						PASS	.						49	48	48					9																	136310909		2203	4300	6503	SO:0001819	synonymous_variant	11093	exon21			CCCTGCGGCAGGG	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2700G>A	9.37:g.136310909G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	51	7	0.137255	NM_139027	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	CCDS6970.1																																																																																			.	.	none		0.662	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		A	136310909	G	A	136310909	2	1	8	1	0	0	0	0	0	0	0	1	258	1103	39	1		1	ADAMTS13	9	136310909	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	16257236	136310909	4902522	102	1626										
NACC2	138151	hgsc.bcm.edu	37	chr9	138903497	138903497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcgggcagcggctcgggggcGgccacctcctggatgaccga	18	14	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:138903497G>A	ENST00000371753.1	-	5	1687	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	NACC2_ENST00000277554.2_Silent_p.A543A			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	543					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GCTCGGGGGCGGCCACCTCCT	0.761																																					p.A543A		Atlas-SNP	.											.	NACC2	16	.	0			c.C1629T						PASS	.						2	3	2					9																	138903497		1676	3402	5078	SO:0001819	synonymous_variant	138151	exon6			GGGGGCGGCCACC	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1629C>T	9.37:g.138903497G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	34	12	0.352941	NM_144653		Silent	SNP	ENST00000371753.1	37	CCDS6993.1																																																																																			.	.	none		0.761	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		A	138903497	G	A	138903497	2	1	8	1	0	0	0	0	0	0	0	1	10136	1103	39	1		1	NACC2	9	138903497	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2592588	138903497	2309934	103	1627										
EGFL7	51162	hgsc.bcm.edu	37	chr9	139566493	139566493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccagcagctcggccgcatcgActccctgagcgagcagattt	11	15	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr9:139566493A>C	ENST00000371699.1	+	9	1663	c.752A>C	c.(751-753)gAc>gCc	p.D251A	MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.D251A|EGFL7_ENST00000308874.7_Missense_Mutation_p.D251A|EGFL7_ENST00000371698.3_Missense_Mutation_p.D251A			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	251					angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGCCGCATCGACTCCCTGAGC	0.701											OREG0019619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D251A		Atlas-SNP	.											.	EGFL7	11	.	0			c.A752C						PASS	.						9	10	9					9																	139566493		2094	4090	6184	SO:0001583	missense	51162	exon10			GCATCGACTCCCT	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.752A>C	9.37:g.139566493A>C	ENSP00000360764:p.Asp251Ala	Somatic	48	0	0	1649	WXS	Illumina HiSeq	Phase_I	37	10	0.27027	NM_016215	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150127	0.78001	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.15	4.15	0.48705	.	0.063724	0.64402	D	0.000013	D	0.91710	0.7379	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.91909	0.5538	10	0.59425	D	0.04	-25.9573	12.025	0.53365	1.0:0.0:0.0:0.0	.	251	Q9UHF1	EGFL7_HUMAN	A	251	ENSP00000360764:D251A;ENSP00000307843:D251A;ENSP00000385639:D251A;ENSP00000360763:D251A	ENSP00000307843:D251A	D	+	2	0	EGFL7	138686314	1.000000	0.71417	0.984000	0.44739	0.768000	0.43524	6.528000	0.73807	1.518000	0.48934	0.459000	0.35465	GAC	.	.	none		0.701	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		C	139566493	A	C	139566493	3	2	8	1	0	0	0	0	1	0	0	0	4964	275	10	5	778	5	EGFL7	9	139566493	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	662996	139566493	1646938	104	1628										
ANKRD30A	91074	hgsc.bcm.edu	37	chr10	37490169	37490169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	attacttttaacagagtctcCgtgagactgtttcacagaag	8	8	2	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr10:37490169C>T	ENST00000602533.1	+	31	2716	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R873C|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.R992C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	929					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAGAGTCTCCGTGAGACTGT	0.274																																					p.R873C		Atlas-SNP	.											.	ANKRD30A	448	.	0			c.C2617T						PASS	.						75	69	71					10																	37490169		1789	4054	5843	SO:0001583	missense	91074	exon31			AGTCTCCGTGAGA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2617C>T	10.37:g.37490169C>T	ENSP00000473551:p.Arg873Cys	Somatic	644	0	0		WXS	Illumina HiSeq	Phase_I	620	79	0.127419	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	c	7.328	0.618303	0.14129	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07021	3.23;3.23	1.38	-2.76	0.05896	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	P	0.35793	0.521	B	0.08055	0.003	T	0.39210	-0.9625	9	0.59425	D	0.04	.	1.5295	0.02532	0.3039:0.2234:0.0:0.4727	.	929	Q9BXX3	AN30A_HUMAN	C	873;992	ENSP00000354432:R873C;ENSP00000363792:R992C	ENSP00000354432:R873C	R	+	1	0	ANKRD30A	37530175	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.369000	0.20416	-0.455000	0.07054	-0.760000	0.03462	CGT	.	.	none		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37490169	C	T	37490169	3	4	8	1	0	0	0	0	1	0	0	0	658	652	23	1	2739	1	ANKRD30A	10	37490169	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10		37490169	98044578	105	1629										
C10orf10	11067	hgsc.bcm.edu	37	chr10	45473249	45473249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctcgcagggacacagcagggCggcccttccggcaggcctgg	16	15	0	0	rs143373089	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr10:45473249C>T	ENST00000298295.3	-	2	447	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RASSF4_ENST00000340258.5_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	77						mitochondrion (GO:0005739)				lung(1)	1						CACAGCAGGGCGGCCCTTCCG	0.662													C|||	9	0.00179712	0.0	0.0	5008	,	,		16959	0.0		0.0089	False		,,,				2504	0.0				p.R77H		Atlas-SNP	.											.	C10orf10	6	.	0			c.G230A						PASS	.	C	HIS/ARG,	3,4401		0,3,2199	37	38	38		230,	-4.3	0	10	dbSNP_134	38	26,8568		0,26,4271	yes	missense,intron	C10orf10,RASSF4	NM_007021.3,NM_032023.3	29,	0,29,6470	TT,TC,CC		0.3025,0.0681,0.2231	benign,	77/213,	45473249	29,12969	2202	4297	6499	SO:0001583	missense	11067	exon2			GCAGGGCGGCCCT	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.230G>A	10.37:g.45473249C>T	ENSP00000298295:p.Arg77His	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	47	11	0.234043	NM_007021	B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	CCDS7210.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	6.078	0.382727	0.11524	6.81E-4	0.003025	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.41400	1.0;1.0	5.6	-4.3	0.03710	.	1.632960	0.03404	N	0.203779	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.07328	-1.0778	10	0.13853	T	0.58	0.1242	2.0776	0.03628	0.1107:0.292:0.3247:0.2726	.	77	Q9NTK1	DEPP_HUMAN	H	77	ENSP00000298295:R77H;ENSP00000414494:R77H	ENSP00000298295:R77H	R	-	2	0	C10orf10	44793255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.941000	0.03925	-1.319000	0.02286	-1.332000	0.01269	CGC	C|0.998;T|0.002	0.002	strong		0.662	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		T	45473249	C	T	45473249	3	4	8	1	0	0	0	0	1	0	0	0	1580	768	27	1	412	1	C10orf10	10	45473249	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	7983080	45473249	90061498	106	1630										
MBL2	4153	hgsc.bcm.edu	37	chr10	54527908	54527908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tatgacccttcagatagggaActcacagacggccagatggg	12	10	2	4			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr10:54527908A>C	ENST00000373968.3	-	4	800	c.736T>G	c.(736-738)Ttc>Gtc	p.F246V		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	246					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGATAGGGAACTCACAGACG	0.463																																					p.F246V		Atlas-SNP	.											.	MBL2	55	.	0			c.T736G						PASS	.						211	195	201					10																	54527908		2202	4300	6502	SO:0001583	missense	4153	exon4			TAGGGAACTCACA	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.736T>G	10.37:g.54527908A>C	ENSP00000363079:p.Phe246Val	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	101	21	0.207921	NM_000242	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575473	0.86645	.	.	ENSG00000165471	ENST00000373968	T	0.18810	2.19	5.03	5.03	0.67393	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.092185	0.48286	D	0.000196	T	0.40067	0.1102	L	0.58354	1.805	0.45995	D	0.998802	D	0.62365	0.991	D	0.64877	0.93	T	0.25328	-1.0135	10	0.87932	D	0	-16.6059	13.0118	0.58735	1.0:0.0:0.0:0.0	.	246	P11226	MBL2_HUMAN	V	246	ENSP00000363079:F246V	ENSP00000363079:F246V	F	-	1	0	MBL2	54197914	1.000000	0.71417	0.626000	0.29213	0.320000	0.28249	4.676000	0.61627	2.010000	0.58986	0.482000	0.46254	TTC	.	.	none		0.463	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		C	54527908	A	C	54527908	3	2	8	1	0	0	0	0	1	0	0	0	9350	43	2	5	14	5	MBL2	10	54527908	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	9054659	54527908	81006839	107	1631										
PLCE1	51196	hgsc.bcm.edu	37	chr10	95791436	95791436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcagaaaacttaattttagaCgattgtggaaattgtgtacc	8	5	1	2	rs201117145		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr10:95791436C>T	ENST00000371380.3	+	1	868	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PLCE1_ENST00000260766.3_Silent_p.D211D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	211					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAATTTTAGACGATTGTGGAA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22116	0.0		0.0	False		,,,				2504	0.0				p.D211D		Atlas-SNP	.											.	PLCE1	543	.	0			c.C633T						PASS	.	C		9,3749		0,9,1870	84	80	81		633	-0.5	1	10		81	0,8202		0,0,4101	no	coding-synonymous	PLCE1	NM_016341.3		0,9,5971	TT,TC,CC		0.0,0.2395,0.0753		211/2303	95791436	9,11951	1879	4101	5980	SO:0001819	synonymous_variant	51196	exon2			TTTAGACGATTGT		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.633C>T	10.37:g.95791436C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	100	33	0.33	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			C|1.000;T|0.000	0.000	strong		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95791436	C	T	95791436	2	4	8	1	0	0	0	0	0	0	0	1	12034	535	19	1		1	PLCE1	10	95791436	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	41263528	95791436	39743311	108	1632										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg	16	5	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	557	18	0.032316		WXS	Illumina HiSeq	Phase_I	590	34	0.0576271	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	8	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10		1016851	133989665	109	1633										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1268741	1268741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caggaccacagccacagccaCacccagcaagacccgcacct	7	20	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:1268741C>T	ENST00000529681.1	+	31	10689	c.10631C>T	c.(10630-10632)aCa>aTa	p.T3544I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3547I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3544	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACAGCCACACCCAGCAAG	0.692																																					p.T3544I		Atlas-SNP	.											.	MUC5B	473	.	0			c.C10631T						PASS	.						65	100	88					11																	1268741		2085	4208	6293	SO:0001583	missense	727897	exon31			CAGCCACACCCAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10631C>T	11.37:g.1268741C>T	ENSP00000436812:p.Thr3544Ile	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	181	46	0.254144	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.567	0.472919	0.12461	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19806	2.12;2.35	2.4	-2.44	0.06502	.	.	.	.	.	T	0.31827	0.0809	L	0.47716	1.5	0.09310	N	1	D;D	0.69078	0.967;0.997	P;P	0.60789	0.835;0.879	T	0.31194	-0.9952	9	0.87932	D	0	.	11.534	0.50626	0.0:0.5071:0.4929:0.0	.	4072;3547	A7Y9J9;E9PBJ0	.;.	I	3544;3547;3516;3449	ENSP00000436812:T3544I;ENSP00000415793:T3547I	ENSP00000343037:T3516I	T	+	2	0	MUC5B	1225317	0.000000	0.05858	0.002000	0.10522	0.095000	0.18619	-0.017000	0.12590	-0.588000	0.05882	0.297000	0.19635	ACA	.	.	none		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1268741	C	T	1268741	3	4	8	1	0	0	0	0	1	0	0	0	9979	478	17	2	10762	2	MUC5B	11	1268741	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	251890	1268741	133737775	110	1634										
KRTAP5-1	387264	hgsc.bcm.edu	37	chr11	1605992	1605992	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aagaaccacaggcccccttgGagcacccacaggagccacag	10	16	0	1	rs60899198	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:1605992G>C	ENST00000382171.2	-	1	521	c.488C>G	c.(487-489)tCc>tGc	p.S163C	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652													g|||	4	0.000798722	0.0	0.0014	5008	,	,		8301	0.002		0.0	False		,,,				2504	0.001				p.S163C		Atlas-SNP	.											KRTAP5-1,NS,carcinoma,0,1	KRTAP5-1	74	1	0			c.C488G						scavenged	.						69	84	79					11																	1605992		2202	4299	6501	SO:0001583	missense	387264	exon1			CCCTTGGAGCACC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.488C>G	11.37:g.1605992G>C	ENSP00000371606:p.Ser163Cys	Somatic	66	3	0.0454545		WXS	Illumina HiSeq	Phase_I	71	3	0.0422535	NM_001005922		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	2.030	-0.422638	0.04734	.	.	ENSG00000205869	ENST00000382171	T	0.04809	3.55	3.69	-5.66	0.02451	.	.	.	.	.	T	0.04588	0.0125	N	0.25992	0.78	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30736	-0.9968	9	0.62326	D	0.03	.	17.1666	0.86818	0.0:0.7049:0.2951:0.0	rs60899198	163	Q6L8H4	KRA51_HUMAN	C	163	ENSP00000371606:S163C	ENSP00000371606:S163C	S	-	2	0	KRTAP5-1	1562568	0.000000	0.05858	0.150000	0.22450	0.017000	0.09413	-1.717000	0.01876	-1.045000	0.03250	-0.974000	0.02594	TCC	G|0.500;C|0.500	0.500	weak		0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		C	1605992	G	C	1605992	3	2	8	1	0	0	0	0	1	0	0	0	8558	1174	41	4	352	4	KRTAP5-1	11	1605992	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	337251	1605992	133400524	111	1635										
KRTAP5-5	439915	hgsc.bcm.edu	37	chr11	1651379	1651379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agaggctgtgtctcctgtggGgtgtccaagggggcctgtgg	19	8	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:1651379G>A	ENST00000399676.2	+	1	347	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	103	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCTCCTGTGGGGTGTCCAAGG	0.677																																					p.G103G		Atlas-SNP	.											.	KRTAP5-5	86	.	0			c.G309A						PASS	.						53	69	63					11																	1651379		2199	4296	6495	SO:0001819	synonymous_variant	439915	exon1			CTGTGGGGTGTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.309G>A	11.37:g.1651379G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	73	20	0.273973	NM_001001480	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.	.	none		0.677	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			A	1651379	G	A	1651379	2	1	8	1	0	0	0	0	0	0	0	1	8564	1219	43	2		2	KRTAP5-5	11	1651379	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	45387	1651379	133355137	112	1636										
OR52M1	119772	hgsc.bcm.edu	37	chr11	4566782	4566782	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aggcatcttccttgccatggCttttgatcgctacgtggcca	10	12	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:4566782C>G	ENST00000360213.1	+	1	362	c.362C>G	c.(361-363)gCt>gGt	p.A121G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGCCATGGCTTTTGATCGC	0.537																																					p.A121G		Atlas-SNP	.											OR52M1,NS,haematopoietic_neoplasm,+1,3	OR52M1	53	3	0			c.C362G						PASS	.						149	130	136					11																	4566782		2201	4298	6499	SO:0001583	missense	119772	exon1			CCATGGCTTTTGA	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.362C>G	11.37:g.4566782C>G	ENSP00000353343:p.Ala121Gly	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	257	69	0.268482	NM_001004137		Missense_Mutation	SNP	ENST00000360213.1	37	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669144	0.88348	.	.	ENSG00000197790	ENST00000360213	T	0.55052	0.54	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.75642	0.3877	M	0.89658	3.05	0.47441	D	0.999421	D	0.71674	0.998	P	0.61397	0.888	T	0.80959	-0.1149	10	0.66056	D	0.02	.	17.3425	0.87301	0.0:1.0:0.0:0.0	.	121	Q8NGK5	O52M1_HUMAN	G	121	ENSP00000353343:A121G	ENSP00000353343:A121G	A	+	2	0	OR52M1	4523358	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.560000	0.82277	2.756000	0.94617	0.650000	0.86243	GCT	.	.	none		0.537	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		G	4566782	C	G	4566782	3	3	8	1	0	0	0	0	1	0	0	0	11126	797	28	4	364	4	OR52M1	11	4566782	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2915403	4566782	130439734	113	1637										
C11orf40	143501	hgsc.bcm.edu	37	chr11	4592708	4592709	+	Frame_Shift_Ins	INS	-	-	AG													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aagtagaacacgatccatacINSagtttttccctgcaaagacc					rs67037861|rs71280817|rs3064108|rs79804156	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:4592708_4592709insAG	ENST00000307616.1	-	4	597_598	c.598_599insCT	c.(598-600)tgtfs	p.C200fs		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	200										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acgatccatacagtttttccCT	0.431																																					p.C200fs		Pindel	.											.	C11orf40	37	.	0			c.599_600insCT						PASS	.			1965,709,1460		611,170,573,143,253,317						-1.1	0		dbSNP_102	79	1984,2343,3691		483,304,714,544,951,1013	no	codingComplex	C11orf40	NM_144663.1		1094,474,1287,687,1204,1330	A1A1,A1A2,A1R,A2A2,A2R,RR		53.9661,52.4673,57.6119				3949,3052,5151				SO:0001589	frameshift_variant	143501	exon4			.		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.597_598dupCT	11.37:g.4592709_4592710dupAG	ENSP00000302918:p.Cys200fs	Somatic	114	.	.		WXS	Illumina HiSeq	Phase_I	111	30	0.27	NM_144663		Frame_Shift_Ins	INS	ENST00000307616.1	37	CCDS31354.1																																																																																			-|0.378;AC|0.622	.	strong		0.431	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		AG	4592709	-	AG	4592708	7	5	8	1	0	1	1	0	0	0	0	0	1639	478	17	0	57	0	C11orf40	11	4592708	Frame_Shift_Ins	INS	-	TCGA-FA-A82F-01A-11D-A382-10	25926	4592708	130413808	114	1638										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	302	18	0.0596026		WXS	Illumina HiSeq	Phase_I	302	24	0.0794702	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	8	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	15685	4608393	130398123	115	1639										
OR51B6	390058	hgsc.bcm.edu	37	chr11	5372968	5372968	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtgacattgaccacaatgccCacagtgctaggtgttctgtg	11	10	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:5372968C>A	ENST00000380219.1	+	1	231	c.231C>A	c.(229-231)ccC>ccA	p.P77P	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	77					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAATGCCCACAGTGCTAG	0.468																																					p.P77P		Atlas-SNP	.											.	OR51B6	53	.	0			c.C231A						PASS	.						134	122	126					11																	5372968		2201	4297	6498	SO:0001819	synonymous_variant	390058	exon1			AATGCCCACAGTG		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.231C>A	11.37:g.5372968C>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	127	56	0.440945	NM_001004750		Silent	SNP	ENST00000380219.1	37	CCDS31379.1																																																																																			.	.	none		0.468	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5372968	C	A	5372968	2	1	8	1	0	0	0	0	0	0	0	1	11092	581	21	4		4	OR51B6	11	5372968	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	764575	5372968	129633548	116	1640										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6561152	6561152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcatgcccaagagactatacGgcggttgcagcggtactggg	14	10	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:6561152G>A	ENST00000527990.2	+	16	3467	c.3467G>A	c.(3466-3468)cGg>cAg	p.R1156Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1156Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1156					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGACTATACGGCGGTTGCAG	0.587																																					p.R1156Q		Atlas-SNP	.											.	DNHD1	198	.	0			c.G3467A						PASS	.						44	49	47					11																	6561152		692	1591	2283	SO:0001583	missense	144132	exon18			CTATACGGCGGTT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.3467G>A	11.37:g.6561152G>A	ENSP00000436180:p.Arg1156Gln	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	84	25	0.297619	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303779	0.10678	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.61040	0.14;0.14	5.57	-3.68	0.04463	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.27241	0.0668	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.22695	-1.0209	9	0.12766	T	0.61	.	5.6098	0.17398	0.5358:0.0:0.235:0.2292	.	1156	Q96M86	DNHD1_HUMAN	Q	1156	ENSP00000254579:R1156Q;ENSP00000436180:R1156Q	ENSP00000254579:R1156Q	R	+	2	0	DNHD1	6517728	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.491000	0.06474	-0.308000	0.08792	-0.221000	0.12465	CGG	.	.	none		0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6561152	G	A	6561152	3	1	8	1	0	0	0	0	1	0	0	0	4668	1116	39	1	3538	1	DNHD1	11	6561152	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	1188184	6561152	128445364	117	1641										
SBF2	81846	hgsc.bcm.edu	37	chr11	10051375	10051375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcaattagactttccaaggaGacattcaggctgtccacata	8	10	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408																																					p.V150V		Atlas-SNP	.											SBF2,NS,carcinoma,-2,1	SBF2	146	1	0			c.C450T						PASS	.						205	205	205					11																	10051375		2201	4294	6495	SO:0001819	synonymous_variant	81846	exon5			CAAGGAGACATTC	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.450C>T	11.37:g.10051375G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	57	19	0.333333	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	CCDS31427.1																																																																																			.	.	none		0.408	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		A	10051375	G	A	10051375	2	1	8	1	0	0	0	0	0	0	0	1	13859	929	33	2		2	SBF2	11	10051375	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	3490223	10051375	124955141	118	1642										
AMPD3	272	hgsc.bcm.edu	37	chr11	10523046	10523046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cctgagcacgttcctgttccGgccgcactgtggggaagccg	14	14	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:10523046G>A	ENST00000396554.3	+	12	2119	c.1778G>A	c.(1777-1779)cGg>cAg	p.R593Q	AMPD3_ENST00000444303.2_Missense_Mutation_p.R425Q|AMPD3_ENST00000530864.1_3'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	584					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCTGTTCCGGCCGCACTGT	0.632																																					p.R593Q		Atlas-SNP	.											.	AMPD3	68	.	0			c.G1778A						PASS	.						48	40	43					11																	10523046		2201	4294	6495	SO:0001583	missense	272	exon12			TGTTCCGGCCGCA	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1778G>A	11.37:g.10523046G>A	ENSP00000379802:p.Arg593Gln	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	61	23	0.377049	NM_000480	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	37	6.087583	0.97271	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.75	5.75	0.90469	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95346	0.8442	10	0.87932	D	0	-21.5258	19.9577	0.97228	0.0:0.0:1.0:0.0	.	591;584;593	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	Q	425;593;584;591;584	ENSP00000396000:R425Q;ENSP00000379802:R593Q;ENSP00000379801:R584Q;ENSP00000436987:R591Q;ENSP00000431648:R584Q	ENSP00000379801:R584Q	R	+	2	0	AMPD3	10479622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.714000	0.92807	0.563000	0.77884	CGG	.	.	none		0.632	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		A	10523046	G	A	10523046	3	1	8	1	0	0	0	0	1	0	0	0	587	1116	39	1	1844	1	AMPD3	11	10523046	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	471671	10523046	124483470	119	1643										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971190	57971190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	acgagatgactgtgagcaaaGtgccgaacctggcccgcatg	13	11	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																					p.T155I		Atlas-SNP	.											OR1S2,trunk,malignant_melanoma,0,1	OR1S2	119	1	1	Substitution - Missense(1)	skin(1)	c.C464T						scavenged	.						183	172	176					11																	57971190		2201	4296	6497	SO:0001583	missense	219958	exon1			AGCAAAGTGCCGA	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile	Somatic	184	3	0.0163043		WXS	Illumina HiSeq	Phase_I	213	7	0.0328638	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT	.	.	none		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971190	G	A	57971190	3	1	8	1	0	0	0	0	1	0	0	0	10973	1029	36	2	516	2	OR1S2	11	57971190	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	47448144	57971190	77035326	120	1644			4	13		2	2	14	N	G_C	8.188528e-05
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	185	2	0.0108108		WXS	Illumina HiSeq	Phase_I	207	3	0.0144928	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	8	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	13	57971203	77035313	121	1645			4	13		2	2	14	N	G_C	8.188528e-05
VEGFB	7423	hgsc.bcm.edu	37	chr11	64004667	64004667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cttacttttcagacctaaaaAaaaggacagtgctgtgaagc	8	8	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:64004667A>G	ENST00000309422.2	+	5	679	c.383A>G	c.(382-384)aAa>aGa	p.K128R	RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Missense_Mutation_p.K128R|RP11-783K16.14_ENST00000534988.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	128					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	AGACCTAAAAAAAAGGACAGT	0.468																																					p.K128R		Atlas-SNP	.											VEGFB,NS,carcinoma,+1,2	VEGFB	18	2	0			c.A383G						PASS	.						138	122	128					11																	64004667		2201	4297	6498	SO:0001583	missense	7423	exon5			CTAAAAAAAAGGA	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.383A>G	11.37:g.64004667A>G	ENSP00000311127:p.Lys128Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	72	23	0.319444	NM_003377	Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	CCDS8062.1	.	.	.	.	.	.	.	.	.	.	A	6.839	0.523936	0.13066	.	.	ENSG00000173511	ENST00000309422;ENST00000426086	.	.	.	4.49	2.07	0.26955	Platelet-derived growth factor (PDGF) (1);	0.627685	0.14547	N	0.312918	T	0.23846	0.0577	N	0.16656	0.425	0.20821	N	0.999844	B;B	0.12630	0.005;0.006	B;B	0.11329	0.006;0.005	T	0.17198	-1.0377	9	0.33141	T	0.24	-0.6901	6.5128	0.22232	0.7986:0.0:0.2014:0.0	.	128;128	P49765-2;P49765	.;VEGFB_HUMAN	R	128	.	ENSP00000311127:K128R	K	+	2	0	VEGFB	63761243	0.305000	0.24481	0.257000	0.24404	0.294000	0.27393	0.587000	0.23909	0.303000	0.22785	-0.421000	0.06004	AAA	.	.	none		0.468	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		G	64004667	A	G	64004667	3	3	8	1	0	0	0	0	1	0	0	0	17148	14	1	2	401	2	VEGFB	11	64004667	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	6033464	64004667	71001849	122	1646										
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249121	71249121	+	Missense_Mutation	SNP	C	C	G													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	catgggctgctgtggctgctCtggaggctgtggctccggct					rs200585722		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	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						PASS	.						47	66	60					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	11.37:g.71249121C>G	ENSP00000420723:p.Ser7Cys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	124	6	0.0483871	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	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	.	.	weak		0.657	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249121	C	G	71249121	3	3	8	1	0	0	0	0	1	0	0	0	8567	913	32	4	22	4	KRTAP5-8	11	71249121	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	7244454	71249121	63757395	123	1647	36	2								
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249125	71249125	+	Silent	SNP	A	A	G													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggctgctgtggctgctctggAggctgtggctccggctgtgg					rs537752041|rs113379698|rs55848980	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																					p.G8G		Atlas-SNP	.											KRTAP5-8,rectum,carcinoma,0,2	KRTAP5-8	28	2	0			c.A24G						scavenged	.						47	66	60					11																	71249125		2189	4280	6469	SO:0001819	synonymous_variant	57830	exon1			CTCTGGAGGCTGT	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.24A>G	11.37:g.71249125A>G		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	123	8	0.0650406	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			A|0.500;G|0.500	0.500	weak		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249125	A	G	71249125	2	3	8	1	0	0	0	0	0	0	0	1	8567	291	11	3		3	KRTAP5-8	11	71249125	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	4	71249125	63757391	124	1648	36	2								
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249152	71249152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggctccggctgtgggggctgCggctctggctgtgggggatg	22	9	1	0	rs112809261	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:71249152C>T	ENST00000398534.3	+	1	82	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	17						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GTGGGGGCTGCGGCTCTGGCT	0.652																																					p.C17C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,+1,1	KRTAP5-8	28	1	0			c.C51T						scavenged	.						55	75	68					11																	71249152		2195	4284	6479	SO:0001819	synonymous_variant	57830	exon1			GGGCTGCGGCTCT	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.51C>T	11.37:g.71249152C>T		Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	101	18	0.178218	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			C|0.896;T|0.104	0.104	strong		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249152	C	T	71249152	2	4	8	1	0	0	0	0	0	0	0	1	8567	776	27	1		1	KRTAP5-8	11	71249152	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	27	71249152	63757364	125	1649										
HEPHL1	341208	hgsc.bcm.edu	37	chr11	93819329	93819329	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtttccccacatggccacaaCagcattcatgcagccagacc	7	16	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:93819329C>G	ENST00000315765.9	+	11	2062	c.2054C>G	c.(2053-2055)aCa>aGa	p.T685R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	685	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.A687fs*12(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGGCCACAACAGCATTCATG	0.517																																					p.T685R		Atlas-SNP	.											.	HEPHL1	144	.	1	Deletion - Frameshift(1)	ovary(1)	c.C2054G						PASS	.						72	69	70					11																	93819329		2013	4186	6199	SO:0001583	missense	341208	exon11			CCACAACAGCATT	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2054C>G	11.37:g.93819329C>G	ENSP00000313699:p.Thr685Arg	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	71	7	0.0985916	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269221	0.80469	.	.	ENSG00000181333	ENST00000315765	D	0.99834	-7.04	5.94	5.94	0.96194	Cupredoxin (2);	0.099149	0.64402	D	0.000001	D	0.99680	0.9880	M	0.81239	2.535	0.51012	D	0.999906	D	0.54772	0.968	P	0.50231	0.635	D	0.98400	1.0567	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	685	Q6MZM0	HPHL1_HUMAN	R	685	ENSP00000313699:T685R	ENSP00000313699:T685R	T	+	2	0	HEPHL1	93458977	1.000000	0.71417	0.100000	0.21137	0.672000	0.39443	7.332000	0.79203	2.820000	0.97059	0.650000	0.86243	ACA	.	.	none		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		G	93819329	C	G	93819329	3	3	8	1	0	0	0	0	1	0	0	0	7055	478	17	4	2096	4	HEPHL1	11	93819329	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	22570177	93819329	41187187	126	1650										
ARHGAP20	57569	hgsc.bcm.edu	37	chr11	110582853	110582853	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgctcagcgtcctcaccttCttggtgcagctgcctcccgc	9	19	3	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:110582853C>G	ENST00000260283.4	-	2	386	c.102G>C	c.(100-102)aaG>aaC	p.K34N	ARHGAP20_ENST00000527598.1_Intron|ARHGAP20_ENST00000528829.1_Intron|ARHGAP20_ENST00000524756.1_5'Flank|ARHGAP20_ENST00000533353.1_Intron	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	34					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTCACCTTCTTGGTGCAGC	0.741																																					p.K34N		Atlas-SNP	.											ARHGAP20,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,1	ARHGAP20	150	1	0			c.G102C						scavenged	.						6	7	7					11																	110582853		2157	4251	6408	SO:0001583	missense	57569	exon2			CACCTTCTTGGTG	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.102G>C	11.37:g.110582853C>G	ENSP00000260283:p.Lys34Asn	Somatic	35	1	0.0285714		WXS	Illumina HiSeq	Phase_I	33	12	0.363636	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661627	0.29515	.	.	ENSG00000137727	ENST00000260283	T	0.12569	2.67	3.91	2.98	0.34508	.	0.290587	0.25186	N	0.032496	T	0.07954	0.0199	N	0.22421	0.69	0.80722	D	1	P	0.41313	0.745	B	0.35413	0.202	T	0.16867	-1.0388	10	0.59425	D	0.04	.	7.9066	0.29765	0.0:0.8768:0.0:0.1232	.	34	Q9P2F6	RHG20_HUMAN	N	34	ENSP00000260283:K34N	ENSP00000260283:K34N	K	-	3	2	ARHGAP20	110088063	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	1.072000	0.30678	1.728000	0.51552	0.555000	0.69702	AAG	.	.	none		0.741	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		G	110582853	C	G	110582853	3	3	8	1	0	0	0	0	1	0	0	0	870	912	32	4	3533	4	ARHGAP20	11	110582853	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	16763524	110582853	24423663	127	1651										
MLL	4297	hgsc.bcm.edu	37	chr11	118372519	118372519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggtccccaggattcgaacacCcagttattctccaacacaga	7	14	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:118372519C>T	ENST00000389506.5	+	26	6443	c.6443C>T	c.(6442-6444)cCc>cTc	p.P2148L	KMT2A_ENST00000534358.1_Missense_Mutation_p.P2151L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2110L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2148					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ATTCGAACACCCAGTTATTCT	0.468																																					p.P2151L		Atlas-SNP	.											.	MLL	548	.	0			c.C6452T						PASS	.						125	123	124					11																	118372519		2200	4296	6496	SO:0001583	missense	4297	exon26			GAACACCCAGTTA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6443C>T	11.37:g.118372519C>T	ENSP00000374157:p.Pro2148Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	86	29	0.337209	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843826	0.71488	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85411	-1.97;-1.98;-1.84	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	D	0.91992	0.5604	10	0.87932	D	0	.	16.9819	0.86329	0.0:1.0:0.0:0.0	.	2151;2148	E9PQG7;Q03164	.;MLL1_HUMAN	L	2151;2148;2110;1058	ENSP00000436786:P2151L;ENSP00000374157:P2148L;ENSP00000346516:P2110L	ENSP00000346516:P2110L	P	+	2	0	MLL	117877729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.419000	0.66435	2.750000	0.94351	0.591000	0.81541	CCC	.	.	none		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118372519	C	T	118372519	3	4	8	1	0	0	0	0	1	0	0	0	9620	623	22	2	6545	2	MLL	11	118372519	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	7789666	118372519	16633997	128	1652										
SORL1	6653	hgsc.bcm.edu	37	chr11	121414264	121414264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgcatttgggcagatacagtAccaatgaaggggagacctgg	14	7	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:121414264A>C	ENST00000260197.7	+	13	1822	c.1693A>C	c.(1693-1695)Acc>Ccc	p.T565P	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	565					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGATACAGTACCAATGAAGG	0.468																																					p.T565P		Atlas-SNP	.											.	SORL1	218	.	0			c.A1693C						PASS	.						127	127	127					11																	121414264		2203	4299	6502	SO:0001583	missense	6653	exon13			TACAGTACCAATG	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1693A>C	11.37:g.121414264A>C	ENSP00000260197:p.Thr565Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	103	30	0.291262	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654993	0.88056	.	.	ENSG00000137642	ENST00000260197	T	0.43294	0.95	5.8	5.8	0.92144	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.70741	-0.4789	10	0.72032	D	0.01	.	16.1549	0.81657	1.0:0.0:0.0:0.0	.	565	Q92673	SORL_HUMAN	P	565	ENSP00000260197:T565P	ENSP00000260197:T565P	T	+	1	0	SORL1	120919474	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.056000	0.93881	2.209000	0.71365	0.533000	0.62120	ACC	.	.	none		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121414264	A	C	121414264	3	2	8	1	0	0	0	0	1	0	0	0	14934	391	14	5	1743	5	SORL1	11	121414264	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	3041745	121414264	13592252	129	1653										
OR10G8	219869	hgsc.bcm.edu	37	chr11	123900714	123900714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	acctggccatcagttacccgCtcaggtacaccagcatgatg	9	14	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr11:123900714C>A	ENST00000431524.1	+	1	418	c.385C>A	c.(385-387)Ctc>Atc	p.L129I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	129						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)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGTTACCCGCTCAGGTACAC	0.557																																					p.L129I		Atlas-SNP	.											.	OR10G8	132	.	0			c.C385A						PASS	.						152	142	146					11																	123900714		2201	4299	6500	SO:0001583	missense	219869	exon1			TACCCGCTCAGGT	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.385C>A	11.37:g.123900714C>A	ENSP00000389072:p.Leu129Ile	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	315	81	0.257143	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167711	0.57476	.	.	ENSG00000234560	ENST00000431524	T	0.32753	1.44	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001629	T	0.61912	0.2385	H	0.97491	4.015	0.31448	N	0.671088	D	0.76494	0.999	D	0.85130	0.997	T	0.65825	-0.6074	10	0.87932	D	0	.	3.7997	0.08753	0.0:0.6176:0.0:0.3824	.	129	Q8NGN5	O10G8_HUMAN	I	129	ENSP00000389072:L129I	ENSP00000389072:L129I	L	+	1	0	OR10G8	123405924	0.486000	0.25980	0.977000	0.42913	0.770000	0.43624	1.056000	0.30480	1.684000	0.51022	0.650000	0.86243	CTC	.	.	none		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900714	C	A	123900714	3	1	8	1	0	0	0	0	1	0	0	0	10903	797	28	4	387	4	OR10G8	11	123900714	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2486450	123900714	11105802	130	1654										
SLC2A3	6515	hgsc.bcm.edu	37	chr12	8083914	8083914	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caccccgcagggcagtaggcGagatctctccaatgtacatg	11	13	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:8083914G>T	ENST00000075120.7	-	4	677	c.437C>A	c.(436-438)tCg>tAg	p.S146*		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGCAGTAGGCGAGATCTCTCC	0.522																																					p.S146X	Colon(96;424 1461 14416 20933 23688)	Atlas-SNP	.											SLC2A3,NS,carcinoma,+1,1	SLC2A3	83	1	0			c.C437A						scavenged	.						91	84	87					12																	8083914		2203	4300	6503	SO:0001587	stop_gained	6515	exon4			GTAGGCGAGATCT	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.437C>A	12.37:g.8083914G>T	ENSP00000075120:p.Ser146*	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	193	3	0.015544	NM_006931	B2R606|D3DUU6|Q6I9U2|Q9UG15	Nonsense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825850	0.90955	.	.	ENSG00000059804	ENST00000075120;ENST00000540978;ENST00000544291	.	.	.	4.37	4.37	0.52481	.	0.112779	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	14.8038	0.69935	0.0:0.0:1.0:0.0	.	.	.	.	X	146;72;115	.	ENSP00000075120:S146X	S	-	2	0	SLC2A3	7975181	1.000000	0.71417	0.433000	0.26760	0.861000	0.49209	8.654000	0.91092	2.426000	0.82243	0.555000	0.69702	TCG	.	.	none		0.522	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8083914	G	T	8083914	4	4	8	1	0	0	0	0	0	1	0	0	14545	1059	37	4	1081	4	SLC2A3	12	8083914	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		8083914	125767981	131	1655										
CNTN1	1272	hgsc.bcm.edu	37	chr12	41316167	41316167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agaaagatgctggaatatacTactgtttagcatctaataac	7	6	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:41316167T>A	ENST00000551295.2	+	5	454	c.337T>A	c.(337-339)Tac>Aac	p.Y113N	CNTN1_ENST00000547849.1_Missense_Mutation_p.Y113N|CNTN1_ENST00000547702.1_Missense_Mutation_p.Y113N|CNTN1_ENST00000348761.2_Missense_Mutation_p.Y102N|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y113N|CNTN1_ENST00000360099.3_Missense_Mutation_p.Y113N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	113	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGAATATACTACTGTTTAGC	0.408																																					p.Y113N		Atlas-SNP	.											.	CNTN1	207	.	0			c.T337A						PASS	.						126	113	117					12																	41316167		2203	4300	6503	SO:0001583	missense	1272	exon5			ATATACTACTGTT	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.337T>A	12.37:g.41316167T>A	ENSP00000447006:p.Tyr113Asn	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	121	17	0.140496	NM_001256063	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031394	0.54790	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.65	4.43	0.53597	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.389023	0.28560	N	0.014920	T	0.12518	0.0304	N	0.16833	0.445	0.32815	D	0.501984	B;B;B	0.25206	0.12;0.072;0.089	B;B;B	0.38156	0.137;0.173;0.266	T	0.12192	-1.0557	10	0.72032	D	0.01	.	11.327	0.49454	0.0:0.0:0.3207:0.6793	.	113;102;113	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	N	113;113;113;113;113;102	ENSP00000448004:Y113N;ENSP00000447006:Y113N;ENSP00000448653:Y113N;ENSP00000325660:Y113N;ENSP00000353213:Y113N;ENSP00000261160:Y102N	ENSP00000325660:Y113N	Y	+	1	0	CNTN1	39602434	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	2.599000	0.46231	2.285000	0.76669	0.477000	0.44152	TAC	.	.	none		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41316167	T	A	41316167	3	1	8	1	0	0	0	0	1	0	0	0	3640	1522	53	5	351	5	CNTN1	12	41316167	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	33232253	41316167	92535728	132	1656										
MLL2	8085	hgsc.bcm.edu	37	chr12	49426852	49426853	+	Frame_Shift_Del	DEL	CT	CT	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcccactgtgtgacatcagaCtctgctgaagatgggacagc							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:49426852_49426853delCT	ENST00000301067.7	-	39	11634_11635	c.11635_11636delAG	c.(11635-11637)agtfs	p.S3879fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3879	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGACATCAGACTCTGCTGAAGA	0.584																																					p.3879_3879del		Pindel,Atlas-Indel	.											.	MLL2	1173	.	0			c.11636_11637del						PASS	.																																			SO:0001589	frameshift_variant	8085	exon39			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11635_11636delAG	12.37:g.49426854_49426855delCT	ENSP00000301067:p.Ser3879fs	Somatic	66	.	.		WXS	Illumina HiSeq	Phase_I	69	14	0.203	NM_003482	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.584	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49426853	CT	-	49426852	7	5	8	1	0	1	0	1	0	0	0	0	9621	565	20	0	5041	0	MLL2	12	49426852	Frame_Shift_Del	DEL	CT	TCGA-FA-A82F-01A-11D-A382-10	8110685	49426852	84425043	133	1657										
HOXC11	3227	hgsc.bcm.edu	37	chr12	54367692	54367692	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgtggccaaggagccggccAaaggagccgcccccagtagg	15	15	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:54367692A>T	ENST00000546378.1	+	1	783	c.667A>T	c.(667-669)Aaa>Taa	p.K223*	HOXC11_ENST00000243082.4_Nonsense_Mutation_p.K223*|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	223					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GGAGCCGGCCAAAGGAGCCGC	0.716			T	NUP98	AML																																p.K223X		Atlas-SNP	.		Dom	yes		12	12q13.3	3227	homeo box C11		L	.	HOXC11	32	.	0			c.A667T						PASS	.						2	3	2					12																	54367692		1539	2840	4379	SO:0001587	stop_gained	3227	exon1			CCGGCCAAAGGAG		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.667A>T	12.37:g.54367692A>T	ENSP00000446680:p.Lys223*	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	22	7	0.318182	NM_014212	A8K7D1|Q96DH2	Nonsense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	A	36	5.906095	0.97087	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	.	.	.	4.22	4.22	0.49857	.	0.150308	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7199	0.57136	1.0:0.0:0.0:0.0	.	.	.	.	X	223	.	ENSP00000243082:K223X	K	+	1	0	HOXC11	52653959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.596000	0.61055	1.898000	0.54952	0.459000	0.35465	AAA	.	.	none		0.716	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			T	54367692	A	T	54367692	4	4	8	1	0	0	0	0	0	1	0	0	7310	131	5	5	669	5	HOXC11	12	54367692	Nonsense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	4940840	54367692	79484203	134	1658										
OR6C75	390323	hgsc.bcm.edu	37	chr12	55759668	55759668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agctgtatcttcatgtacatTaagacttctgccagagaaag	8	8	3	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:55759668T>G	ENST00000343399.3	+	1	774	c.774T>G	c.(772-774)atT>atG	p.I258M		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCATGTACATTAAGACTTCTG	0.413																																					p.I258M		Atlas-SNP	.											.	OR6C75	67	.	0			c.T774G						PASS	.						94	83	87					12																	55759668		2203	4300	6503	SO:0001583	missense	390323	exon1			GTACATTAAGACT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.774T>G	12.37:g.55759668T>G	ENSP00000368987:p.Ile258Met	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	88	27	0.306818	NM_001005497		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.265821	0.23136	.	.	ENSG00000187857	ENST00000343399	T	0.38722	1.12	5.22	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	0.145223	0.31199	N	0.008068	T	0.21387	0.0515	N	0.20986	0.625	0.24027	N	0.99612	B	0.28128	0.201	B	0.33799	0.17	T	0.08848	-1.0702	10	0.44086	T	0.13	.	1.1064	0.01694	0.2021:0.2798:0.2947:0.2233	.	258	A6NL08	O6C75_HUMAN	M	258	ENSP00000368987:I258M	ENSP00000368987:I258M	I	+	3	3	OR6C75	54045935	0.000000	0.05858	0.991000	0.47740	0.983000	0.72400	-3.438000	0.00471	-0.367000	0.08052	-0.362000	0.07510	ATT	.	.	none		0.413	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			G	55759668	T	G	55759668	3	3	8	1	0	0	0	0	1	0	0	0	11199	1742	61	5	776	5	OR6C75	12	55759668	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	1391976	55759668	78092227	135	1659										
MON2	23041	hgsc.bcm.edu	37	chr12	62936884	62936884	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	attttctccctaggaaccatCtctttttgctgttgccaaat	5	11	2	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:62936884C>G	ENST00000393632.2	+	20	2763	c.2372C>G	c.(2371-2373)tCt>tGt	p.S791C	MON2_ENST00000280379.6_Missense_Mutation_p.S791C|MON2_ENST00000393629.2_Missense_Mutation_p.S791C|MON2_ENST00000552738.1_Missense_Mutation_p.S768C|MON2_ENST00000546600.1_Missense_Mutation_p.S791C|MON2_ENST00000393630.3_Missense_Mutation_p.S791C|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000552115.1_Missense_Mutation_p.S791C	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	791					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGGAACCATCTCTTTTTGCT	0.353																																					p.S791C		Atlas-SNP	.											.	MON2	160	.	0			c.C2372G						PASS	.						93	94	94					12																	62936884		2203	4299	6502	SO:0001583	missense	23041	exon20			AACCATCTCTTTT		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2372C>G	12.37:g.62936884C>G	ENSP00000377252:p.Ser791Cys	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	122	42	0.344262	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553734	0.86231	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;1.42	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	L	0.49350	1.555	0.80722	D	1	P;P;P;P	0.49559	0.877;0.709;0.709;0.925	B;P;P;P	0.53313	0.431;0.518;0.723;0.634	T	0.70059	-0.4976	9	.	.	.	-18.2064	19.7314	0.96182	0.0:1.0:0.0:0.0	.	791;768;791;791	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	C	791;791;791;791;768;791;791	ENSP00000377252:S791C;ENSP00000377250:S791C;ENSP00000280379:S791C;ENSP00000447407:S791C;ENSP00000449215:S768C;ENSP00000377249:S791C;ENSP00000446635:S791C	.	S	+	2	0	MON2	61223151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.727000	0.93392	0.655000	0.94253	TCT	.	.	none		0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		G	62936884	C	G	62936884	3	3	8	1	0	0	0	0	1	0	0	0	9700	913	32	4	2450	4	MON2	12	62936884	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	7177216	62936884	70915011	136	1660										
PPM1H	57460	hgsc.bcm.edu	37	chr12	63328431	63328431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcaggtccgagcctccgcagCtgccgccgccgtgctcggag	15	17	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:63328431C>T	ENST00000228705.6	-	1	386	c.86G>A	c.(85-87)aGc>aAc	p.S29N	Y_RNA_ENST00000516851.1_RNA	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	29							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GCCTCCGCAGCTGCCGCCGCC	0.667																																					p.S29N		Atlas-SNP	.											.	PPM1H	42	.	0			c.G86A						PASS	.						6	9	8					12																	63328431		1801	3941	5742	SO:0001583	missense	57460	exon1			CCGCAGCTGCCGC	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.86G>A	12.37:g.63328431C>T	ENSP00000228705:p.Ser29Asn	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	27	0.350649	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341429	0.41498	.	.	ENSG00000111110	ENST00000228705	T	0.23147	1.92	3.82	3.82	0.43975	.	0.240619	0.25247	N	0.032057	T	0.18215	0.0437	L	0.33485	1.01	0.22666	N	0.99887	B	0.02656	0.0	B	0.01281	0.0	T	0.12066	-1.0562	9	.	.	.	-2.3967	11.0859	0.48086	0.0:1.0:0.0:0.0	.	29	Q9ULR3	PPM1H_HUMAN	N	29	ENSP00000228705:S29N	.	S	-	2	0	PPM1H	61614698	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.755000	0.47540	1.964000	0.57103	0.561000	0.74099	AGC	.	.	none		0.667	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		T	63328431	C	T	63328431	3	4	8	1	0	0	0	0	1	0	0	0	12341	797	28	2	1498	2	PPM1H	12	63328431	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	391547	63328431	70523464	137	1661										
NAP1L1	4673	hgsc.bcm.edu	37	chr12	76447587	76447587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttctggtccatcaaaagaaaAgggatcagaatcatctggtt	9	7	5	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:76447587A>G	ENST00000261182.8	-	9	1219	c.733T>C	c.(733-735)Ttt>Ctt	p.F245L	NAP1L1_ENST00000535020.2_Missense_Mutation_p.F245L|NAP1L1_ENST00000431879.3_Missense_Mutation_p.F177L|NAP1L1_ENST00000547993.1_Missense_Mutation_p.F62L|NAP1L1_ENST00000552342.1_Missense_Mutation_p.F256L|NAP1L1_ENST00000547773.1_Missense_Mutation_p.F182L|NAP1L1_ENST00000548044.1_Missense_Mutation_p.F204L|NAP1L1_ENST00000544816.1_Missense_Mutation_p.F62L|NAP1L1_ENST00000542344.1_Missense_Mutation_p.F203L|NAP1L1_ENST00000549596.1_Missense_Mutation_p.F245L|NAP1L1_ENST00000393263.3_Missense_Mutation_p.F245L	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	245					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCAAAAGAAAAGGGATCAGAA	0.318																																					p.F245L		Atlas-SNP	.											NAP1L1,right_lower_lobe,carcinoma,0,1	NAP1L1	33	1	0			c.T733C						scavenged	.						75	75	75					12																	76447587		2203	4300	6503	SO:0001583	missense	4673	exon9			AAGAAAAGGGATC		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.733T>C	12.37:g.76447587A>G	ENSP00000261182:p.Phe245Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	191	3	0.0157068	NM_004537	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818893	0.71028	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.46819	1.47	0.80722	D	1	B;P;B;B;B;B;B	0.36125	0.1;0.538;0.334;0.03;0.07;0.057;0.035	B;B;B;B;B;B;B	0.40825	0.154;0.341;0.23;0.232;0.168;0.065;0.075	T	0.03394	-1.1041	10	0.44086	T	0.13	.	15.8236	0.78678	1.0:0.0:0.0:0.0	.	245;203;256;245;177;182;245	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	L	245;239;245;177;182;62;203;245;245;62;256;204;218;245;204	ENSP00000261182:F245L;ENSP00000450236:F239L;ENSP00000376947:F245L;ENSP00000409795:F177L;ENSP00000448167:F182L;ENSP00000437507:F62L;ENSP00000444759:F203L;ENSP00000445008:F245L;ENSP00000447793:F245L;ENSP00000448007:F62L;ENSP00000447196:F256L;ENSP00000449649:F204L;ENSP00000448133:F218L;ENSP00000448764:F245L;ENSP00000446787:F204L	ENSP00000261182:F245L	F	-	1	0	NAP1L1	74733854	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.336000	0.96533	2.135000	0.66039	0.524000	0.50904	TTT	.	.	none		0.318	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		G	76447587	A	G	76447587	3	3	8	1	0	0	0	0	1	0	0	0	10156	72	3	3	470	3	NAP1L1	12	76447587	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	13119156	76447587	57404308	138	1662										
BTG1	694	hgsc.bcm.edu	37	chr12	92539203	92539203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctctggctgaaggtctgcaGctgtcgctcgctcgtgagcc	14	13	2	2	rs369374957		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:92539203G>A	ENST00000256015.3	-	1	470	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	37					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.L37L(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				AAGGTCTGCAGCTGTCGCTCG	0.677			T	MYC	BCLL																																p.L37L		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	BTG1,NS,lymphoid_neoplasm,0,3	BTG1	30	3	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C109T						PASS	.						38	41	40					12																	92539203		2203	4300	6503	SO:0001819	synonymous_variant	694	exon1			TCTGCAGCTGTCG		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.109C>T	12.37:g.92539203G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	123	37	0.300813	NM_001731	P31607	Silent	SNP	ENST00000256015.3	37	CCDS9043.1																																																																																			.	.	alt		0.677	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92539203	G	A	92539203	2	1	8	1	0	0	0	0	0	0	0	1	1553	962	34	2		2	BTG1	12	92539203	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	16091616	92539203	41312692	139	1663										
SLC5A8	160728	hgsc.bcm.edu	37	chr12	101603483	101603483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	actgcggtcattctgcggccGcccatcaggaagtccttgga	12	13	3	0	rs147835898	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:101603483G>A	ENST00000536262.2	-	1	702	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGCGGCCGCCCATCAGGA	0.652																																					p.G48G	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.C144T						PASS	.						45	42	43					12																	101603483		2203	4300	6503	SO:0001819	synonymous_variant	160728	exon1			GCGGCCGCCCATC	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.144C>T	12.37:g.101603483G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	24	10	0.416667	NM_145913		Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																			G|0.999;T|0.001	.	alt		0.652	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		A	101603483	G	A	101603483	2	1	8	1	0	0	0	0	0	0	0	1	14671	1074	38	1		1	SLC5A8	12	101603483	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	9064280	101603483	32248412	140	1664										
DTX1	1840	hgsc.bcm.edu	37	chr12	113496147	113496147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtgtgccaccacattgagaaCgtgctgaaggaggacgctcg	14	10	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:113496147C>T	ENST00000257600.3	+	1	653	c.150C>T	c.(148-150)aaC>aaT	p.N50N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	50	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACATTGAGAACGTGCTGAAGG	0.652																																					p.N50N		Atlas-SNP	.											.	DTX1	83	.	0			c.C150T						PASS	.						118	102	108					12																	113496147		2203	4300	6503	SO:0001819	synonymous_variant	1840	exon1			TGAGAACGTGCTG	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.150C>T	12.37:g.113496147C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	59	9	0.152542	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.	.	none		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113496147	C	T	113496147	2	4	8	1	0	0	0	0	0	0	0	1	4793	535	19	1		1	DTX1	12	113496147	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	11892664	113496147	20355748	141	1665										
RAN	5901	hgsc.bcm.edu	37	chr12	131359242	131359242	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aaggacaggaaagtgaaggcGaaatccattgtcttccaccg	11	9	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr12:131359242G>A	ENST00000543796.1	+	5	657	c.399G>A	c.(397-399)gcG>gcA	p.A133A	RAN_ENST00000254675.3_Silent_p.A45A|RAN_ENST00000541630.1_Silent_p.A45A|RAN_ENST00000392369.2_Silent_p.A133A|RAN_ENST00000392367.3_Silent_p.A150A			P62826	RAN_HUMAN	RAN, member RAS oncogene family	133					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		AAGTGAAGGCGAAATCCATTG	0.398																																					p.A133A		Atlas-SNP	.											.	RAN	18	.	0			c.G399A						PASS	.						100	88	92					12																	131359242		2203	4300	6503	SO:0001819	synonymous_variant	5901	exon5			GAAGGCGAAATCC	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.399G>A	12.37:g.131359242G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	81	18	0.222222	NM_006325	A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Silent	SNP	ENST00000543796.1	37	CCDS9271.1																																																																																			.	.	none		0.398	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		A	131359242	G	A	131359242	2	1	8	1	0	0	0	0	0	0	0	1	13024	1045	37	1		1	RAN	12	131359242	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	17863095	131359242	2492653	142	1666										
LATS2	26524	hgsc.bcm.edu	37	chr13	21562181	21562181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtctctgctgtttttgcggaCgggaacgggagaggtctgaa	16	7	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr13:21562181C>T	ENST00000382592.4	-	4	2143	c.1738G>A	c.(1738-1740)Gtc>Atc	p.V580I	LATS2_ENST00000542899.1_Missense_Mutation_p.V580I|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTTTTGCGGACGGGAACGGGA	0.557																																					p.V580I		Atlas-SNP	.											.	LATS2	176	.	0			c.G1738A						PASS	.						240	243	242					13																	21562181		2203	4300	6503	SO:0001583	missense	26524	exon4			TGCGGACGGGAAC	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1738G>A	13.37:g.21562181C>T	ENSP00000372035:p.Val580Ile	Somatic	450	1	0.00222222		WXS	Illumina HiSeq	Phase_I	385	96	0.249351	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558695	0.65538	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.41758	0.99;0.99	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000018	T	0.42854	0.1221	L	0.52905	1.665	0.58432	D	0.999998	P	0.47106	0.89	B	0.40741	0.339	T	0.41787	-0.9489	10	0.44086	T	0.13	.	18.8138	0.92070	0.0:1.0:0.0:0.0	.	580	Q9NRM7	LATS2_HUMAN	I	580	ENSP00000372035:V580I;ENSP00000441817:V580I	ENSP00000372035:V580I	V	-	1	0	LATS2	20460181	1.000000	0.71417	0.029000	0.17559	0.542000	0.35054	7.273000	0.78527	2.691000	0.91804	0.549000	0.68633	GTC	.	.	none		0.557	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21562181	C	T	21562181	3	4	8	1	0	0	0	0	1	0	0	0	8647	536	19	1	1548	1	LATS2	13	21562181	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10		21562181	93607697	143	1667										
NFKBIA	4792	hgsc.bcm.edu	37	chr14	35873697	35873697	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctcctgcggctcgaggcggaTctcctgcagctccttgacca	11	16	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr14:35873697T>A	ENST00000216797.5	-	1	255	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_5'Flank|NFKBIA_ENST00000557140.1_Missense_Mutation_p.I52F	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	52					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TCGAGGCGGATCTCCTGCAGC	0.682																																					p.I52F		Atlas-SNP	.											.	NFKBIA	28	.	0			c.A154T						PASS	.						17	18	18					14																	35873697		2200	4296	6496	SO:0001583	missense	4792	exon1			GGCGGATCTCCTG		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.154A>T	14.37:g.35873697T>A	ENSP00000216797:p.Ile52Phe	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	55	18	0.327273	NM_020529	B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057033	0.76074	.	.	ENSG00000100906	ENST00000216797;ENST00000557140	T;T	0.49720	0.87;0.77	3.87	3.87	0.44632	.	.	.	.	.	T	0.41994	0.1183	L	0.51422	1.61	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32134	-0.9918	9	0.36615	T	0.2	-37.6328	12.9569	0.58432	0.0:0.0:0.0:1.0	.	52;52	G3V3I4;P25963	.;IKBA_HUMAN	F	52	ENSP00000216797:I52F;ENSP00000451257:I52F	ENSP00000216797:I52F	I	-	1	0	NFKBIA	34943448	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.352000	0.66028	1.510000	0.48803	0.260000	0.18958	ATC	.	.	none		0.682	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		A	35873697	T	A	35873697	3	1	8	1	0	0	0	0	1	0	0	0	10377	1435	50	5	823	5	NFKBIA	14	35873697	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10		35873697	71475843	144	1668										
SMEK1	55671	hgsc.bcm.edu	37	chr14	91937274	91937274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gttctttatgtggtaggtatGgtgctccacacaaaatgtta	10	6	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr14:91937274G>A	ENST00000554943.1	-	10	1682	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	SMEK1_ENST00000428424.2_Missense_Mutation_p.H284Y|SMEK1_ENST00000337238.4_Missense_Mutation_p.H510Y|SMEK1_ENST00000555462.1_Missense_Mutation_p.H284Y|SMEK1_ENST00000554684.1_Missense_Mutation_p.H510Y			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	523					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGGTAGGTATGGTGCTCCACA	0.353																																					p.H510Y		Atlas-SNP	.											.	SMEK1	94	.	0			c.C1528T						PASS	.						108	110	110					14																	91937274		2203	4300	6503	SO:0001583	missense	55671	exon11			AGGTATGGTGCTC	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1567C>T	14.37:g.91937274G>A	ENSP00000450883:p.His523Tyr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	132	46	0.348485	NM_032560	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	G	15.55	2.866703	0.51588	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.6	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.045903	0.85682	D	0.000000	D	0.97698	0.9245	M	0.90198	3.095	0.80722	D	1	P;D;D	0.89917	0.701;1.0;1.0	B;D;D	0.97110	0.201;0.999;1.0	D	0.98583	1.0651	10	0.87932	D	0	-16.6192	16.5223	0.84320	0.0:0.131:0.869:0.0	.	284;523;510	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Y	510;510;284;523;284;510	ENSP00000450864:H510Y;ENSP00000337125:H510Y;ENSP00000392704:H284Y;ENSP00000450883:H523Y;ENSP00000450891:H284Y;ENSP00000452596:H510Y	ENSP00000337125:H510Y	H	-	1	0	SMEK1	91007027	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	9.869000	0.99810	1.346000	0.45694	-0.182000	0.12963	CAT	.	.	none		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		A	91937274	G	A	91937274	3	1	8	1	0	0	0	0	1	0	0	0	14793	1348	47	2	958	2	SMEK1	14	91937274	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	56063577	91937274	15412266	145	1669										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101004957	101004957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gccgggaagcggaaggtctcGgccgggtacggtgacatggt	19	9	1	1	rs542292676		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr14:101004957G>A	ENST00000355173.2	-	7	1202	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	BEGAIN_ENST00000443071.2_Silent_p.A377A|BEGAIN_ENST00000556751.1_Silent_p.A313A|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	377						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGAAGGTCTCGGCCGGGTACG	0.751																																					p.A377A	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.C1131T						PASS	.						7	9	9					14																	101004957		2048	4022	6070	SO:0001819	synonymous_variant	57596	exon7			GGTCTCGGCCGGG	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1131C>T	14.37:g.101004957G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	334	28	0.0838323	NM_020836	Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	CCDS9962.1																																																																																			.	.	none		0.751	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		A	101004957	G	A	101004957	2	1	8	1	0	0	0	0	0	0	0	1	1397	1103	39	1		1	BEGAIN	14	101004957	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	9067683	101004957	6344583	146	1670										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101005056	101005056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttggcaaagcgagggctgccCtcgtaggtggtggcgggtgg	20	8	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr14:101005056C>G	ENST00000355173.2	-	7	1103	c.1032G>C	c.(1030-1032)gaG>gaC	p.E344D	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E344D|BEGAIN_ENST00000556751.1_Missense_Mutation_p.E280D|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	344						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GAGGGCTGCCCTCGTAGGTGG	0.721																																					p.E344D	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.G1032C						PASS	.						26	21	23					14																	101005056		2155	4244	6399	SO:0001583	missense	57596	exon7			GCTGCCCTCGTAG	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1032G>C	14.37:g.101005056C>G	ENSP00000347301:p.Glu344Asp	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	625	37	0.0592	NM_020836	Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651923	0.14516	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.17	2.26	0.28386	.	0.267762	0.26282	N	0.025278	T	0.15522	0.0374	N	0.04880	-0.145	0.22796	N	0.998728	B	0.22211	0.066	B	0.24006	0.05	T	0.29427	-1.0012	9	0.14252	T	0.57	.	8.346	0.32272	0.0:0.719:0.1908:0.0902	.	344	Q9BUH8	BEGIN_HUMAN	D	344;280;344	.	ENSP00000347301:E344D	E	-	3	2	BEGAIN	100074809	0.958000	0.32768	0.475000	0.27278	0.055000	0.15305	0.567000	0.23608	0.201000	0.20466	0.462000	0.41574	GAG	.	.	none		0.721	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		G	101005056	C	G	101005056	3	3	8	1	0	0	0	0	1	0	0	0	1397	680	24	4	753	4	BEGAIN	14	101005056	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	99	101005056	6344484	147	1671										
C14orf73	91828	hgsc.bcm.edu	37	chr14	103570659	103570659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctggagcagagtcactgggCggccgccgaggtccccgagg	18	13	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr14:103570659C>T	ENST00000380069.3	+	4	1293	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	406					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AGTCACTGGGCGGCCGCCGAG	0.687																																					p.A406V		Atlas-SNP	.											.	EXOC3L4	35	.	0			c.C1217T						PASS	.						10	12	11					14																	103570659		2188	4293	6481	SO:0001583	missense	91828	exon4			ACTGGGCGGCCGC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1217C>T	14.37:g.103570659C>T	ENSP00000369409:p.Ala406Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	54	30	0.555556	NM_001077594	Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	C	2.404	-0.336881	0.05278	.	.	ENSG00000205436	ENST00000380069	T	0.05925	3.37	4.18	-2.7	0.06004	.	0.665977	0.14024	N	0.346640	T	0.05135	0.0137	L	0.57536	1.79	0.09310	N	1	B	0.32543	0.375	B	0.28139	0.086	T	0.28202	-1.0051	10	0.33141	T	0.24	-4.2103	3.2771	0.06902	0.3063:0.3183:0.0:0.3754	.	406	Q17RC7	EX3L4_HUMAN	V	406	ENSP00000369409:A406V	ENSP00000369409:A406V	A	+	2	0	EXOC3L4	102640412	0.005000	0.15991	0.001000	0.08648	0.081000	0.17604	-0.056000	0.11787	-0.925000	0.03775	-0.284000	0.09977	GCG	.	.	none		0.687	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		T	103570659	C	T	103570659	3	4	8	1	0	0	0	0	1	0	0	0	1779	768	27	1	1231	1	C14orf73	14	103570659	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	2565603	103570659	3778881	148	1672										
NDN	4692	hgsc.bcm.edu	37	chr15	23931597	23931597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccccaaaagaactcgtattcGggcggctccacgtatgggac	11	13	0	1	rs142210120	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr15:23931597G>A	ENST00000331837.4	-	1	853	c.768C>T	c.(766-768)ccC>ccT	p.P256P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	256	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACTCGTATTCGGGCGGCTCCA	0.562									Prader-Willi syndrome				G|||	9	0.00179712	0.0053	0.0029	5008	,	,		19044	0.0		0.0	False		,,,				2504	0.0				p.P256P		Atlas-SNP	.											NDN,right_upper_lobe,carcinoma,0,1	NDN	79	1	0			c.C768T						PASS	.	G		17,4389		0,17,2186	35	35	35		768	-7	0	15	dbSNP_134	35	3,8595		0,3,4296	no	coding-synonymous	NDN	NM_002487.2		0,20,6482	AA,AG,GG		0.0349,0.3858,0.1538		256/322	23931597	20,12984	2203	4299	6502	SO:0001819	synonymous_variant	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	GTATTCGGGCGGC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.768C>T	15.37:g.23931597G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	84	30	0.357143	NM_002487	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																			G|0.998;A|0.002	0.002	strong		0.562	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931597	G	A	23931597	2	1	8	1	0	0	0	0	0	0	0	1	10247	1103	39	1		1	NDN	15	23931597	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		23931597	78599795	149	1673										
ARID3B	10620	hgsc.bcm.edu	37	chr15	74836319	74836319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cagcagcagcagcagcaacaAcagaagcagccacacctggc	10	15	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr15:74836319A>G	ENST00000346246.5	+	2	273	c.42A>G	c.(40-42)caA>caG	p.Q14Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	14	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcaacaacagaagcagc	0.562																																					p.Q14Q		Atlas-SNP	.											ARID3B,right_lower_lobe,carcinoma,0,1	ARID3B	35	1	0			c.A42G						scavenged	.						18	21	20					15																	74836319		2196	4294	6490	SO:0001819	synonymous_variant	10620	exon2			GCAACAACAGAAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.42A>G	15.37:g.74836319A>G		Somatic	127	4	0.0314961		WXS	Illumina HiSeq	Phase_I	130	6	0.0461538	NM_006465	O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	CCDS10264.1																																																																																			.	.	none		0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		G	74836319	A	G	74836319	2	3	8	1	0	0	0	0	0	0	0	1	917	40	2	2		2	ARID3B	15	74836319	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	50904722	74836319	27695073	150	1674										
NMRAL1	57407	hgsc.bcm.edu	37	chr16	4516347	4516347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttcttgatgttctccaggccGctgtagaccacatagtggag	11	10	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:4516347G>A	ENST00000574733.1	-	4	1065	c.336C>T	c.(334-336)agC>agT	p.S112S	NMRAL1_ENST00000404295.3_Silent_p.S112S|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Silent_p.S112S|NMRAL1_ENST00000283429.6_Silent_p.S112S			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TCTCCAGGCCGCTGTAGACCA	0.597																																					p.S112S		Atlas-SNP	.											.	NMRAL1	31	.	0			c.C336T						PASS	.						45	44	44					16																	4516347		2197	4300	6497	SO:0001819	synonymous_variant	57407	exon4			CAGGCCGCTGTAG	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.336C>T	16.37:g.4516347G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	19	0.452381	NM_020677		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																			.	.	none		0.597	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		A	4516347	G	A	4516347	2	1	8	1	0	0	0	0	0	0	0	1	10501	1078	38	1		1	NMRAL1	16	4516347	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		4516347	85838406	151	1675										
MMP2	4313	hgsc.bcm.edu	37	chr16	55518022	55518022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcgatgtgaccccactgcggTtttctcgaatccatgatgga	11	11	1	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:55518022T>G	ENST00000219070.4	+	3	984	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V	MMP2_ENST00000570308.1_Missense_Mutation_p.F83V|MMP2_ENST00000543485.1_Missense_Mutation_p.F83V|MMP2_ENST00000437642.2_Missense_Mutation_p.F109V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	159	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCCACTGCGGTTTTCTCGAAT	0.552																																					p.F159V		Atlas-SNP	.											MMP2,NS,carcinoma,-1,1	MMP2	119	1	0			c.T475G						PASS	.						150	121	131					16																	55518022		2198	4300	6498	SO:0001583	missense	4313	exon3			CTGCGGTTTTCTC		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.475T>G	16.37:g.55518022T>G	ENSP00000219070:p.Phe159Val	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	123	56	0.455285	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162604	0.78226	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.54279	0.58;0.58;0.58	4.72	4.72	0.59763	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.047110	0.85682	D	0.000000	T	0.67449	0.2894	M	0.90198	3.095	0.80722	D	1	P;P	0.50369	0.75;0.934	P;P	0.48227	0.571;0.538	T	0.77005	-0.2748	10	0.72032	D	0.01	.	14.5064	0.67755	0.0:0.0:0.0:1.0	.	109;159	E9PE45;P08253	.;MMP2_HUMAN	V	159;83;109	ENSP00000219070:F159V;ENSP00000444143:F83V;ENSP00000394237:F109V	ENSP00000219070:F159V	F	+	1	0	MMP2	54075523	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	5.073000	0.64395	1.902000	0.55061	0.374000	0.22700	TTT	.	.	none		0.552	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			G	55518022	T	G	55518022	3	3	8	1	0	0	0	0	1	0	0	0	9658	1725	60	5	492	5	MMP2	16	55518022	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	51001675	55518022	34836731	152	1676										
ZNF23	7571	hgsc.bcm.edu	37	chr16	71483092	71483092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cacattccttgcactgatagGgcttctctcccgtatggatt	8	12	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:71483092G>T	ENST00000393539.2	-	6	1649	c.836C>A	c.(835-837)cCc>cAc	p.P279H	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.P279H|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.P221H|ZNF23_ENST00000417828.1_Missense_Mutation_p.P279H|ZNF23_ENST00000564528.1_Missense_Mutation_p.P221H	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P279R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GCACTGATAGGGCTTCTCTCC	0.468																																					p.P279H		Atlas-SNP	.											ZNF23,rectum,carcinoma,0,1	ZNF23	65	1	1	Substitution - Missense(1)	large_intestine(1)	c.C836A						scavenged	.						98	95	96					16																	71483092		2198	4300	6498	SO:0001583	missense	7571	exon6			TGATAGGGCTTCT	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.836C>A	16.37:g.71483092G>T	ENSP00000377171:p.Pro279His	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	178	4	0.0224719	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437554	0.62955	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T;T	0.35421	1.57;1.57;1.57;1.57;1.31	3.7	3.7	0.42460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000984	T	0.66197	0.2765	M	0.92923	3.36	0.52099	D	0.99994	D;D	0.89917	0.999;1.0	D;D	0.70487	0.942;0.969	T	0.75682	-0.3233	10	0.72032	D	0.01	-16.353	13.7712	0.63026	0.0:0.0:1.0:0.0	.	279;279	B3KR55;P17027	.;ZNF23_HUMAN	H	279;279;279;221;221;79	ENSP00000377171:P279H;ENSP00000349796:P279H;ENSP00000395712:P279H;ENSP00000387673:P221H;ENSP00000351535:P79H	ENSP00000349796:P279H	P	-	2	0	ZNF23	70040593	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.571000	0.82399	2.371000	0.80710	0.561000	0.74099	CCC	.	.	none		0.468	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		T	71483092	G	T	71483092	3	4	8	1	0	0	0	0	1	0	0	0	17780	1232	43	4	1099	4	ZNF23	16	71483092	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	15965070	71483092	18871661	153	1677										
ADAT1	23536	hgsc.bcm.edu	37	chr16	75646759	75646759	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gaatgatggaggcatccccaCctgcagagaatgaacccact	10	12	0	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:75646759C>T	ENST00000307921.3	-	7	570	c.425G>A	c.(424-426)tGt>tAt	p.C142Y		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	142	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GGCATCCCCACCTGCAGAGAA	0.473																																					p.C142Y		Atlas-SNP	.											.	ADAT1	45	.	0			c.G425A						PASS	.						41	44	43					16																	75646759		2197	4299	6496	SO:0001630	splice_region_variant	23536	exon7			TCCCCACCTGCAG	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.425-1G>A	16.37:g.75646759C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	121	15	0.123967	NM_012091	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971912	0.92919	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.98221	-4.8	5.75	5.75	0.90469	Adenosine deaminase/editase (3);	0.085290	0.85682	D	0.000000	D	0.99318	0.9761	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98931	1.0787	10	0.87932	D	0	.	18.5379	0.91017	0.0:1.0:0.0:0.0	.	142	Q9BUB4	ADAT1_HUMAN	Y	142;113	ENSP00000310015:C142Y	ENSP00000310015:C142Y	C	-	2	0	ADAT1	74204260	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.747000	0.85070	2.716000	0.92895	0.655000	0.94253	TGT	.	.	none		0.473	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	Missense_Mutation	T	75646759	C	T	75646759	5	4	8	1	0	0	0	0	0	0	1	0	284	521	18	2	1103	2	ADAT1	16	75646759	Splice_Site	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	4163667	75646759	14707994	154	1678										
KLHL36	79786	hgsc.bcm.edu	37	chr16	84691156	84691156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caagaacgacctgctgcaccGcgtcaagccggccgtgtgct	12	15	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:84691156G>A	ENST00000564996.1	+	3	884	c.743G>A	c.(742-744)cGc>cAc	p.R248H	KLHL36_ENST00000258157.5_Missense_Mutation_p.R248H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	248	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGCTGCACCGCGTCAAGCCG	0.687																																					p.R248H		Atlas-SNP	.											.	KLHL36	51	.	0			c.G743A						PASS	.						36	30	32					16																	84691156		2197	4290	6487	SO:0001583	missense	79786	exon3			TGCACCGCGTCAA	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.743G>A	16.37:g.84691156G>A	ENSP00000456743:p.Arg248His	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	43	4	0.0930233	NM_024731	Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491508	0.44249	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.68903	-0.36	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.115666	0.64402	D	0.000018	T	0.66848	0.2831	L	0.27053	0.805	0.58432	D	0.99999	P;D	0.61080	0.72;0.989	B;P	0.56514	0.053;0.8	T	0.60826	-0.7186	10	0.15499	T	0.54	.	18.4088	0.90543	0.0:0.0:1.0:0.0	.	248;248	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	H	248	ENSP00000258157:R248H	ENSP00000258157:R248H	R	+	2	0	KLHL36	83248657	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	4.951000	0.63610	2.582000	0.87167	0.563000	0.77884	CGC	.	.	none		0.687	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			A	84691156	G	A	84691156	3	1	8	1	0	0	0	0	1	0	0	0	8389	1087	38	1	749	1	KLHL36	16	84691156	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	9044397	84691156	5663597	155	1679										
ZNF276	92822	hgsc.bcm.edu	37	chr16	89790056	89790056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cagcctccttcggacagcgaCgcggtggggcccaggtcggg	17	14	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr16:89790056C>T	ENST00000443381.2	+	4	1042	c.945C>T	c.(943-945)gaC>gaT	p.D315D	ZNF276_ENST00000446326.2_Missense_Mutation_p.T112M|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000289816.5_Silent_p.D240D|ZNF276_ENST00000568064.1_Missense_Mutation_p.T234M	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGGACAGCGACGCGGTGGGGC	0.672																																					p.D315D		Atlas-SNP	.											ZNF276_ENST00000443381,NS,carcinoma,0,2	ZNF276	70	2	0			c.C945T						PASS	.						25	31	29					16																	89790056		2190	4277	6467	SO:0001819	synonymous_variant	92822	exon4			CAGCGACGCGGTG	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.945C>T	16.37:g.89790056C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	80	23	0.2875	NM_001113525	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	0.556	-0.847515	0.02651	.	.	ENSG00000158805	ENST00000446326	T	0.06528	3.29	5.55	-0.243	0.13035	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	B	0.24258	0.1	B	0.11329	0.006	T	0.36237	-0.9756	8	0.48119	T	0.1	-5.262	8.8218	0.35030	0.0:0.5882:0.0:0.4118	.	112	A8K186	.	M	112	ENSP00000415999:T112M	ENSP00000415999:T112M	T	+	2	0	ZNF276	88317557	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.243000	0.09653	-2.262000	0.00279	ACG	.	.	none		0.672	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		T	89790056	C	T	89790056	2	4	8	1	0	0	0	0	0	0	0	1	17808	535	19	1		1	ZNF276	16	89790056	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	5098900	89790056	564697	156	1680										
P2RX5	5026	hgsc.bcm.edu	37	chr17	3599171	3599171	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cggagaacttacacgaccagGtacgccaggatggaggcctg	14	11	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:3599171G>T	ENST00000225328.5	-	1	527	c.129C>A	c.(127-129)taC>taA	p.Y43*	P2RX5_ENST00000551178.1_Nonsense_Mutation_p.Y43*|P2RX5_ENST00000552276.1_Nonsense_Mutation_p.Y43*|P2RX5_ENST00000435558.1_Nonsense_Mutation_p.Y43*|P2RX5-TAX1BP3_ENST00000550383.1_Nonsense_Mutation_p.Y43*|P2RX5_ENST00000547178.1_Nonsense_Mutation_p.Y43*|P2RX5_ENST00000345901.3_Nonsense_Mutation_p.Y43*	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	43					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ACACGACCAGGTACGCCAGGA	0.632																																					p.Y43X		Atlas-SNP	.											.	P2RX5	36	.	0			c.C129A						PASS	.						62	55	57					17																	3599171		2203	4300	6503	SO:0001587	stop_gained	5026	exon1			GACCAGGTACGCC	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.129C>A	17.37:g.3599171G>T	ENSP00000225328:p.Tyr43*	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001204519	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Nonsense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998360	0.97184	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000440619	.	.	.	3.86	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4541	6.3266	0.21246	0.1038:0.1894:0.7068:0.0	.	.	.	.	X	43	.	ENSP00000225328:Y43X	Y	-	3	2	P2RX5	3545920	1.000000	0.71417	0.990000	0.47175	0.652000	0.38707	5.955000	0.70306	1.877000	0.54381	0.313000	0.20887	TAC	.	.	none		0.632	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		T	3599171	G	T	3599171	4	4	8	1	0	0	0	0	0	1	0	0	11343	1256	44	4	1191	4	P2RX5	17	3599171	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		3599171	77596039	157	1681										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3844337	3844338	+	Frame_Shift_Del	DEL	GA	GA	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgtgcgggctccacgcgggcGaagcagcgggcggtgcggca							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:3844337_3844338delGA	ENST00000352011.3	-	14	2081_2082	c.2027_2028delTC	c.(2026-2028)ttcfs	p.F676fs	ATP2A3_ENST00000309890.7_Frame_Shift_Del_p.F676fs|ATP2A3_ENST00000397043.3_Frame_Shift_Del_p.F676fs|ATP2A3_ENST00000397035.3_Frame_Shift_Del_p.F676fs|ATP2A3_ENST00000397041.3_Frame_Shift_Del_p.F676fs|ATP2A3_ENST00000359983.3_Frame_Shift_Del_p.F676fs|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	676					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACGCGGGCGAAGCAGCGGGC	0.673																																					p.676_677del	GBM(32;29 774 15719 37967)	Atlas-Indel	.											.	ATP2A3	148	.	0			c.2028_2029del						PASS	.																																			SO:0001589	frameshift_variant	489	exon14			.		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2027_2028delTC	17.37:g.3844337_3844338delGA	ENSP00000301387:p.Phe676fs	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	46	25	0.543478	NM_174958	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Del	DEL	ENST00000352011.3	37	CCDS11041.1																																																																																			.	.	none		0.673	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		-	3844338	GA	-	3844337	7	5	8	1	0	1	0	1	0	0	0	0	1138	1049	37	0	1214	0	ATP2A3	17	3844337	Frame_Shift_Del	DEL	GA	TCGA-FA-A82F-01A-11D-A382-10	245166	3844337	77350873	158	1682	37	3								
ATP2A3	489	hgsc.bcm.edu	37	chr17	3844340	3844340	+	Missense_Mutation	SNP	G	G	C													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcgggctccacgcgggcgaaGcagcgggcggtgcggcaggc							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:3844340G>C	ENST00000352011.3	-	14	2079	c.2025C>G	c.(2023-2025)tgC>tgG	p.C675W	ATP2A3_ENST00000309890.7_Missense_Mutation_p.C675W|ATP2A3_ENST00000397043.3_Missense_Mutation_p.C675W|ATP2A3_ENST00000397035.3_Missense_Mutation_p.C675W|ATP2A3_ENST00000397041.3_Missense_Mutation_p.C675W|ATP2A3_ENST00000359983.3_Missense_Mutation_p.C675W|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	675					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGCGGGCGAAGCAGCGGGCGG	0.667																																					p.C675W	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.C2025G						PASS	.						58	63	61					17																	3844340		2203	4296	6499	SO:0001583	missense	489	exon14			GGCGAAGCAGCGG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2025C>G	17.37:g.3844340G>C	ENSP00000301387:p.Cys675Trp	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	44	25	0.568182	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570816	0.65765	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	4.16	2.19	0.27852	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.974;0.985;0.974;0.974;0.974	D	0.94182	0.7433	10	0.87932	D	0	.	10.0362	0.42131	0.1683:0.0:0.8317:0.0	.	675;675;675;675;675;675	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	W	675	ENSP00000380236:C675W;ENSP00000301387:C675W;ENSP00000353072:C675W;ENSP00000380234:C675W;ENSP00000312577:C675W;ENSP00000380229:C675W	ENSP00000312577:C675W	C	-	3	2	ATP2A3	3791089	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.421000	0.73353	0.714000	0.32081	0.561000	0.74099	TGC	.	.	none		0.667	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		C	3844340	G	C	3844340	3	2	8	1	0	0	0	0	1	0	0	0	1138	963	34	4	1217	4	ATP2A3	17	3844340	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	3	3844340	77350870	159	1683	37	3								
ATP2A3	489	hgsc.bcm.edu	37	chr17	3844342	3844343	+	Frame_Shift_Ins	INS	-	-	C													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggctccacgcgggcgaagcaINSgcgggcggtgcggcaggcct							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:3844342_3844343insC	ENST00000352011.3	-	14	2076_2077	c.2022_2023insG	c.(2020-2025)cgctgcfs	p.C675fs	ATP2A3_ENST00000309890.7_Frame_Shift_Ins_p.C675fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.C675fs|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.C675fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.C675fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.C675fs|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	675					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGGGCGAAGCAGCGGGCGGTGC	0.663																																					p.C675fs	GBM(32;29 774 15719 37967)	Atlas-Indel	.											.	ATP2A3	148	.	0			c.2023_2024insG						PASS	.																																			SO:0001589	frameshift_variant	489	exon14			.		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2022_2023insG	17.37:g.3844342_3844343insC	ENSP00000301387:p.Cys675fs	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	46	25	0.543478	NM_174958	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Ins	INS	ENST00000352011.3	37	CCDS11041.1																																																																																			.	.	none		0.663	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		C	3844343	-	C	3844342	7	5	8	1	0	1	1	0	0	0	0	0	1138	188	7	0	1219	0	ATP2A3	17	3844342	Frame_Shift_Ins	INS	-	TCGA-FA-A82F-01A-11D-A382-10	2	3844342	77350868	160	1684	37	3								
TP53	7157	hgsc.bcm.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R273C	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000455263,NS,adenocarcinoma,+1,1300	TP53	33396	1300	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	c.C817T	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	PASS	.						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AAACACGCACCTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	.	.	weak		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	8	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	3732779	7577121	73618089	161	1685										
RCVRN	5957	hgsc.bcm.edu	37	chr17	9804381	9804381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gttttcatcgtctggaaggaGcttcacgtcctcgggagtga	13	9	3	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:9804381G>T	ENST00000226193.5	-	2	858	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	140					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TCTGGAAGGAGCTTCACGTCC	0.453																																					p.L140I		Atlas-SNP	.											.	RCVRN	34	.	0			c.C418A						PASS	.						105	98	100					17																	9804381		2203	4300	6503	SO:0001583	missense	5957	exon2			GAAGGAGCTTCAC	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.418C>A	17.37:g.9804381G>T	ENSP00000226193:p.Leu140Ile	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_002903	Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591431	0.13812	.	.	ENSG00000109047	ENST00000226193	T	0.67345	-0.26	5.89	-1.12	0.09808	EF-hand-like domain (1);	0.735456	0.13380	N	0.392228	T	0.41305	0.1153	N	0.11023	0.085	0.20489	N	0.999893	B	0.09022	0.002	B	0.18561	0.022	T	0.22243	-1.0222	10	0.51188	T	0.08	.	5.0991	0.14749	0.1996:0.0:0.4512:0.3493	.	140	P35243	RECO_HUMAN	I	140	ENSP00000226193:L140I	ENSP00000226193:L140I	L	-	1	0	RCVRN	9745106	0.005000	0.15991	0.002000	0.10522	0.266000	0.26442	0.055000	0.14229	-0.375000	0.07955	-0.136000	0.14681	CTC	.	.	none		0.453	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		T	9804381	G	T	9804381	3	4	8	1	0	0	0	0	1	0	0	0	13186	971	34	4	192	4	RCVRN	17	9804381	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2227260	9804381	71390829	162	1686										
C17orf76	388341	hgsc.bcm.edu	37	chr17	16351219	16351219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tccactgggagtgggggctgAggtggtatgtcagctgccgg	19	8	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:16351219A>C	ENST00000470794.1	-	3	458	c.431T>G	c.(430-432)cTc>cGc	p.L144R	C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|FAM211A_ENST00000409083.3_Intron|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA	NM_001113567.2	NP_001107039.1														lung(1)	1						GTGGGGGCTGAGGTGGTATGT	0.657																																					p.L144R		Atlas-SNP	.											.	FAM211A	21	.	0			c.T431G						PASS	.						31	40	37					17																	16351219		692	1591	2283	SO:0001583	missense	388341	exon3			GGGCTGAGGTGGT																												ENST00000470794.1:c.431T>G	17.37:g.16351219A>C	ENSP00000419502:p.Leu144Arg	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	52	27	0.519231	NM_001113567		Missense_Mutation	SNP	ENST00000470794.1	37	CCDS45620.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522899	0.85600	.	.	ENSG00000181350	ENST00000470794	T	0.63744	-0.06	5.12	5.12	0.69794	.	.	.	.	.	T	0.75759	0.3893	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78494	-0.2182	9	0.87932	D	0	.	13.1626	0.59552	1.0:0.0:0.0:0.0	.	144;117	Q8NAA5;B7ZMA3	CQ076_HUMAN;.	R	144	ENSP00000419502:L144R	ENSP00000419502:L144R	L	-	2	0	C17orf76	16291944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.285000	0.89914	2.068000	0.61886	0.402000	0.26972	CTC	.	.	none		0.657	FAM211A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130463.3			C	16351219	A	C	16351219	3	2	8	1	0	0	0	0	1	0	0	0	1881	304	11	5	611	5	C17orf76	17	16351219	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	6546838	16351219	64843991	163	1687										
ALDOC	230	hgsc.bcm.edu	37	chr17	26901736	26901736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctggcagatactggcataaCgggccagcacgttggcgttc	14	11	0	1	rs148239543		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:26901736C>T	ENST00000226253.4	-	5	993	c.518G>A	c.(517-519)cGt>cAt	p.R173H	PIGS_ENST00000308360.7_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.R173H|ALDOC_ENST00000395319.3_Missense_Mutation_p.R173H	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	173					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					ACTGGCATAACGGGCCAGCAC	0.557											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R173H		Atlas-SNP	.											ALDOC,colon,carcinoma,-1,1	ALDOC	22	1	0			c.G518A						PASS	.	C	HIS/ARG	0,4406		0,0,2203	96	79	84		518	5.5	1	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDOC	NM_005165.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	173/365	26901736	1,13005	2203	4300	6503	SO:0001583	missense	230	exon5			GCATAACGGGCCA	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.518G>A	17.37:g.26901736C>T	ENSP00000226253:p.Arg173His	Somatic	49	0	0	790	WXS	Illumina HiSeq	Phase_I	59	4	0.0677966	NM_005165	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907215	0.92107	0.0	1.16E-4	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.88818	-2.43;-2.43;-2.43	5.5	5.5	0.81552	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.91459	3.21	0.80722	D	1	P;D	0.76494	0.562;0.999	B;D	0.71656	0.192;0.974	D	0.96213	0.9154	10	0.87932	D	0	.	18.5367	0.91013	0.0:1.0:0.0:0.0	.	173;173	A8MVZ9;P09972	.;ALDOC_HUMAN	H	173	ENSP00000378729:R173H;ENSP00000226253:R173H;ENSP00000378731:R173H	ENSP00000226253:R173H	R	-	2	0	ALDOC	23925863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.741000	0.93983	0.650000	0.86243	CGT	C|1.000;T|0.000	0.000	weak		0.557	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			T	26901736	C	T	26901736	3	4	8	1	0	0	0	0	1	0	0	0	509	536	19	1	596	1	ALDOC	17	26901736	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	10550517	26901736	54293474	164	1688										
CCL2	6347	hgsc.bcm.edu	37	chr17	32583751	32583751	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctccccacagcttcaagaccAttgtggccaaggagatctgt	9	13	2	2	rs148285031	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:32583751A>T	ENST00000225831.4	+	3	270	c.205A>T	c.(205-207)Att>Ttt	p.I69F	CCL2_ENST00000580907.1_3'UTR|AC005549.3_ENST00000601918.1_5'Flank	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	69					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	CTTCAAGACCATTGTGGCCAA	0.522																																					p.I69F		Atlas-SNP	.											.	CCL2	10	.	0			c.A205T						PASS	.						102	86	92					17																	32583751		2203	4300	6503	SO:0001583	missense	6347	exon3			AAGACCATTGTGG	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"Chemokine ligands", "Endogenous ligands"	10618	protein-coding gene	gene with protein product	"monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"	158105	"small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.205A>T	17.37:g.32583751A>T	ENSP00000225831:p.Ile69Phe	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	91	12	0.131868	NM_002982	B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012994	0.35511	.	.	ENSG00000108691	ENST00000225831	T	0.04603	3.59	4.97	2.68	0.31781	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.619000	0.03674	N	0.244424	T	0.04998	0.0134	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.40136	-0.9579	9	0.66056	D	0.02	.	4.3276	0.11048	0.7323:0.0:0.0939:0.1739	.	69	P13500	CCL2_HUMAN	F	69	ENSP00000225831:I69F	ENSP00000225831:I69F	I	+	1	0	CCL2	29607864	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-0.199000	0.09491	0.430000	0.26230	0.402000	0.26972	ATT	A|0.999;G|0.001	.	alt		0.522	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		T	32583751	A	T	32583751	3	4	8	1	0	0	0	0	1	0	0	0	2891	217	8	5	215	5	CCL2	17	32583751	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	5682015	32583751	48611459	165	1689										
XYLT2	64132	hgsc.bcm.edu	37	chr17	48431146	48431146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cccgtggccaaggtggtacgGgcagtaaccagccggcagag	16	12	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:48431146G>A	ENST00000017003.2	+	2	340	c.291G>A	c.(289-291)cgG>cgA	p.R97R	XYLT2_ENST00000507602.1_Silent_p.R97R	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	97					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGGTGGTACGGGCAGTAACCA	0.721																																					p.R97R		Atlas-SNP	.											.	XYLT2	51	.	0			c.G291A						PASS	.						7	8	7					17																	48431146		2124	4155	6279	SO:0001819	synonymous_variant	64132	exon2			GGTACGGGCAGTA	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.291G>A	17.37:g.48431146G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	40	16	0.4	NM_022167	Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	CCDS11563.1																																																																																			.	.	none		0.721	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		A	48431146	G	A	48431146	2	1	8	1	0	0	0	0	0	0	0	1	17461	1219	43	2		2	XYLT2	17	48431146	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	15847395	48431146	32764064	166	1690										
WIPI1	55062	hgsc.bcm.edu	37	chr17	66423340	66423340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gctgcataagactgaggtaaGgaaggtctgaggtcattttc	13	6	2	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:66423340G>T	ENST00000262139.5	-	11	1127	c.1128C>A	c.(1126-1128)tcC>tcA	p.S376S	WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Silent_p.S294S|MIR635_ENST00000384830.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	376					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGAGGTAAGGAAGGTCTGA	0.498																																					p.S376S		Atlas-SNP	.											.	WIPI1	46	.	0			c.C1128A						PASS	.						356	280	306					17																	66423340		2203	4300	6503	SO:0001819	synonymous_variant	55062	exon11			AGGTAAGGAAGGT		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1128C>A	17.37:g.66423340G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	108	5	0.0462963	NM_017983	Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	CCDS11677.1																																																																																			.	.	none		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		T	66423340	G	T	66423340	2	4	8	1	0	0	0	0	0	0	0	1	17367	987	35	4		4	WIPI1	17	66423340	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	17992194	66423340	14771870	167	1691										
MGAT5B	146664	hgsc.bcm.edu	37	chr17	74922752	74922752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aggagtacgccacgctgcacGgctaccggaccaactggggc	14	14	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr17:74922752G>A	ENST00000569840.2	+	10	1805	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.G422S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G411S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	411					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGCTGCACGGCTACCGGAC	0.637																																					p.G422S		Atlas-SNP	.											.	MGAT5B	98	.	0			c.G1264A						PASS	.						119	103	108					17																	74922752		2203	4295	6498	SO:0001583	missense	146664	exon9			CTGCACGGCTACC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1231G>A	17.37:g.74922752G>A	ENSP00000456037:p.Gly411Ser	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	25	9	0.36	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886158	0.91814	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.48522	0.81;0.81	5.14	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	L	0.58302	1.8	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.66252	-0.5970	10	0.59425	D	0.04	-39.314	14.4167	0.67155	0.0:0.1487:0.8513:0.0	.	422;411	Q3V5L5-2;Q3V5L5-5	.;.	S	411;422	ENSP00000301618:G411S;ENSP00000391227:G422S	ENSP00000301618:G411S	G	+	1	0	MGAT5B	72434347	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.627000	0.98412	1.082000	0.41137	0.561000	0.74099	GGC	.	.	none		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74922752	G	A	74922752	3	1	8	1	0	0	0	0	1	0	0	0	9549	1116	39	1	1370	1	MGAT5B	17	74922752	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	8499412	74922752	6272458	168	1692										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542916	14542916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cagaagtgcccacgttgctcGtgccgctccccctgcagcag	11	17	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:14542916G>T	ENST00000358970.5	-	1	229	c.230C>A	c.(229-231)aCg>aAg	p.T77K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACGTTGCTCGTGCCGCTCCC	0.577																																					p.T77K		Atlas-SNP	.											POTEC,NS,carcinoma,+1,1	POTEC	129	1	0			c.C230A						scavenged	.						42	51	48					18																	14542916		692	1591	2283	SO:0001583	missense	388468	exon1			TTGCTCGTGCCGC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.230C>A	18.37:g.14542916G>T	ENSP00000351856:p.Thr77Lys	Somatic	323	3	0.00928793		WXS	Illumina HiSeq	Phase_I	409	8	0.0195599	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.707401	0.00096	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22743	1.94	0.429	-0.857	0.10693	.	.	.	.	.	T	0.03827	0.0108	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	0.02654	T	1	.	.	.	.	.	77	B2RU33	POTEC_HUMAN	K	77	ENSP00000351856:T77K	ENSP00000351856:T77K	T	-	2	0	POTEC	14532916	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.710000	0.01888	-2.489000	0.00518	-1.883000	0.00544	ACG	G|1.000;|0.000	.	weak		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14542916	G	T	14542916	3	4	8	1	0	0	0	0	1	0	0	0	12262	1145	40	4	1442	4	POTEC	18	14542916	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		14542916	63534332	169	1693										
KLHL14	57565	hgsc.bcm.edu	37	chr18	30350108	30350108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcctccaccgtgtccagggaCagggtcacgttggccgtgta	13	13	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:30350108C>T	ENST00000359358.4	-	2	885	c.447G>A	c.(445-447)ctG>ctA	p.L149L	KLHL14_ENST00000358095.4_Silent_p.L149L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	149	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTCCAGGGACAGGGTCACGT	0.637																																					p.L149L		Atlas-SNP	.											.	KLHL14	92	.	0			c.G447A						PASS	.						99	94	95					18																	30350108		2203	4300	6503	SO:0001819	synonymous_variant	57565	exon2			CAGGGACAGGGTC	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.447G>A	18.37:g.30350108C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	159	82	0.515723	NM_020805	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																			.	.	none		0.637	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			T	30350108	C	T	30350108	2	4	8	1	0	0	0	0	0	0	0	1	8370	465	17	2		2	KLHL14	18	30350108	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	15807192	30350108	47727140	170	1694										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31250736	31250736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cattaaaggtgtctgatgagCagtcggattcgccttcaggt	12	8	2	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:31250736C>A	ENST00000269197.5	+	6	577	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	193					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTGATGAGCAGTCGGATTC	0.428																																					p.Q193K		Atlas-SNP	.											.	ASXL3	405	.	0			c.C577A						PASS	.						57	58	58					18																	31250736		1881	4091	5972	SO:0001583	missense	80816	exon6			GATGAGCAGTCGG	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.577C>A	18.37:g.31250736C>A	ENSP00000269197:p.Gln193Lys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	154	31	0.201299	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353018	0.61293	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	5.48	5.48	0.80851	.	.	.	.	.	T	0.35307	0.0927	L	0.43152	1.355	0.41121	D	0.985811	D	0.63880	0.993	D	0.67548	0.952	T	0.01480	-1.1344	9	0.44086	T	0.13	.	19.3689	0.94477	0.0:1.0:0.0:0.0	.	193	Q9C0F0	ASXL3_HUMAN	K	193	ENSP00000269197:Q193K	ENSP00000269197:Q193K	Q	+	1	0	ASXL3	29504734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.595000	0.87683	0.655000	0.94253	CAG	.	.	none		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31250736	C	A	31250736	3	1	8	1	0	0	0	0	1	0	0	0	1068	711	25	4	599	4	ASXL3	18	31250736	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	900628	31250736	46826512	171	1695										
ALPK2	115701	hgsc.bcm.edu	37	chr18	56246643	56246643	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	taatcattttcagcagcctcGggagcagtggggagtttata	12	7	2	0	rs373786602		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:56246643G>T	ENST00000361673.3	-	4	1578	c.1365C>A	c.(1363-1365)ccC>ccA	p.P455P	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	455						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P455P(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGCCTCGGGAGCAGTGG	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P455P		Atlas-SNP	.											ALPK2_ENST00000361673,medulla,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ALPK2	487	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C1365A						PASS	.						138	139	138					18																	56246643		2203	4300	6503	SO:0001819	synonymous_variant	115701	exon4			AGCCTCGGGAGCA	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1365C>A	18.37:g.56246643G>T		Somatic	201	0	0	1014	WXS	Illumina HiSeq	Phase_I	270	59	0.218519	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																			.	.	alt		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56246643	G	T	56246643	2	4	8	1	0	0	0	0	0	0	0	1	545	1103	39	4		4	ALPK2	18	56246643	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	24995907	56246643	21830605	172	1696										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72998479	72998479	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agccagcaggaatggccgcaGaggtggccctgagtgagtca	16	10	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:72998479G>C	ENST00000580243.1	+	2	1465	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	TSHZ1_ENST00000322038.5_Missense_Mutation_p.E328Q			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	373					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGGCCGCAGAGGTGGCCCT	0.627																																					p.E328Q		Atlas-SNP	.											.	TSHZ1	104	.	0			c.G982C						PASS	.						77	84	82					18																	72998479		2203	4300	6503	SO:0001583	missense	10194	exon2			GCCGCAGAGGTGG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1117G>C	18.37:g.72998479G>C	ENSP00000464391:p.Glu373Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	99	12	0.121212	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	G	2.206	-0.381839	0.04966	.	.	ENSG00000179981	ENST00000322038	T	0.11821	2.74	5.27	5.27	0.74061	.	0.632498	0.16025	N	0.233147	T	0.12178	0.0296	L	0.36672	1.1	0.25438	N	0.988122	B	0.23058	0.079	B	0.20384	0.029	T	0.17379	-1.0371	10	0.25751	T	0.34	-12.3326	12.2676	0.54686	0.0775:0.0:0.9225:0.0	.	373	Q6ZSZ6	TSH1_HUMAN	Q	328	ENSP00000323584:E328Q	ENSP00000323584:E328Q	E	+	1	0	TSHZ1	71127467	0.988000	0.35896	0.040000	0.18447	0.018000	0.09664	4.584000	0.60971	1.986000	0.57962	0.459000	0.35465	GAG	.	.	none		0.627	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72998479	G	C	72998479	3	2	8	1	0	0	0	0	1	0	0	0	16620	943	33	4	984	4	TSHZ1	18	72998479	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	16751836	72998479	5078769	173	1697										
ZNF236	7776	hgsc.bcm.edu	37	chr18	74606988	74606988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggctccatccgcgaggagaaCggcgtgcgctggcatgtgtg	17	11	0	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr18:74606988C>T	ENST00000253159.8	+	10	1629	c.1431C>T	c.(1429-1431)aaC>aaT	p.N477N	ZNF236_ENST00000320610.9_Silent_p.N479N	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	477					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCGAGGAGAACGGCGTGCGCT	0.662																																					p.N477N		Atlas-SNP	.											.	ZNF236	325	.	0			c.C1431T						PASS	.						81	94	90					18																	74606988		2184	4274	6458	SO:0001819	synonymous_variant	7776	exon10			GGAGAACGGCGTG	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1431C>T	18.37:g.74606988C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_007345	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																			.	.	none		0.662	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			T	74606988	C	T	74606988	2	4	8	1	0	0	0	0	0	0	0	1	17786	535	19	1		1	ZNF236	18	74606988	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	1608509	74606988	3470260	174	1698										
MUC16	94025	hgsc.bcm.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																					p.P328P		Atlas-SNP	.											MUC16_ENST00000397910,bladder,carcinoma,0,2	MUC16	4315	2	0			c.T984C						scavenged	.						96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025	exon1			GGAAAAAGGGATA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	173	3	0.017341	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.	.	none		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9090831	A	G	9090831	2	3	8	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10		9090831	50038152	175	1699										
AP1M1	8907	hgsc.bcm.edu	37	chr19	16319908	16319908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	caccagccaccgtcaccaacGcggtgtcctggcggtccgaa	11	17	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:16319908G>A	ENST00000291439.3	+	5	915	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	AP1M1_ENST00000429941.2_Missense_Mutation_p.A156T|AP1M1_ENST00000541844.1_Missense_Mutation_p.A84T|AP1M1_ENST00000444449.2_Missense_Mutation_p.A156T|AP1M1_ENST00000590756.1_Missense_Mutation_p.A84T	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	156					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGTCACCAACGCGGTGTCCTG	0.582																																					p.A156T		Atlas-SNP	.											.	AP1M1	48	.	0			c.G466A						PASS	.						132	119	124					19																	16319908		2203	4300	6503	SO:0001583	missense	8907	exon5			ACCAACGCGGTGT		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.466G>A	19.37:g.16319908G>A	ENSP00000291439:p.Ala156Thr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	26	0.265306	NM_001130524	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027439	0.75390	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.66460	0.4;0.37;0.38;-0.21	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.68728	2.09	0.80722	D	1	P;D;D	0.89917	0.539;1.0;1.0	B;D;D	0.97110	0.14;1.0;0.999	T	0.81936	-0.0705	10	0.56958	D	0.05	-20.3738	16.0736	0.80951	0.0:0.0:1.0:0.0	.	156;156;156	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	T	156;156;84;156	ENSP00000388996:A156T;ENSP00000291439:A156T;ENSP00000445682:A84T;ENSP00000411498:A156T	ENSP00000291439:A156T	A	+	1	0	AP1M1	16180908	1.000000	0.71417	0.668000	0.29813	0.779000	0.44077	9.400000	0.97290	2.249000	0.74217	0.563000	0.77884	GCG	.	.	none		0.582	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16319908	G	A	16319908	3	1	8	1	0	0	0	0	1	0	0	0	734	1087	38	1	484	1	AP1M1	19	16319908	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	7229077	16319908	42809075	176	1700										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31768852	31768852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tggcaactttctcagtgaccTttttcaccagctcctccatg	6	14	2	1	rs527324144		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:31768852T>C	ENST00000240587.4	-	2	2174	c.1847A>G	c.(1846-1848)aAg>aGg	p.K616R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	616					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCAGTGACCTTTTTCACCAG	0.577																																					p.K616R		Atlas-SNP	.											TSHZ3_ENST00000240587,right_upper_lobe,carcinoma,+1,2	TSHZ3	549	2	0			c.A1847G						scavenged	.						75	82	80					19																	31768852		2203	4300	6503	SO:0001583	missense	57616	exon2			GTGACCTTTTTCA	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1847A>G	19.37:g.31768852T>C	ENSP00000240587:p.Lys616Arg	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	317	5	0.0157729	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047552	0.75846	.	.	ENSG00000121297	ENST00000240587	T	0.39229	1.09	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.65969	-0.6039	10	0.66056	D	0.02	-17.7546	15.253	0.73561	0.0:0.0:0.0:1.0	.	616	Q63HK5	TSH3_HUMAN	R	616	ENSP00000240587:K616R	ENSP00000240587:K616R	K	-	2	0	TSHZ3	36460692	1.000000	0.71417	0.715000	0.30552	0.985000	0.73830	7.671000	0.83941	1.997000	0.58415	0.477000	0.44152	AAG	.	.	none		0.577	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31768852	T	C	31768852	3	2	8	1	0	0	0	0	1	0	0	0	16622	1609	56	3	1402	3	TSHZ3	19	31768852	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	15448944	31768852	27360131	177	1701										
C19orf40	91442	hgsc.bcm.edu	37	chr19	33465059	33465059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agtttactgtgctggaccttGgaatggtgctgcttccagtg	13	8	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:33465059G>A	ENST00000588258.1	+	4	447	c.337G>A	c.(337-339)Gga>Aga	p.G113R	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_Missense_Mutation_p.G18R|C19orf40_ENST00000590281.1_Missense_Mutation_p.G113R|C19orf40_ENST00000589646.1_Missense_Mutation_p.G18R	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	113					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GCTGGACCTTGGAATGGTGCT	0.483								Direct reversal of damage																													p.G113R		Atlas-SNP	.											.	C19orf40	21	.	0			c.G337A						PASS	.						99	84	89					19																	33465059		2203	4300	6503	SO:0001583	missense	91442	exon4			GACCTTGGAATGG	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.337G>A	19.37:g.33465059G>A	ENSP00000466121:p.Gly113Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	179	27	0.150838	NM_152266	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759304	0.89932	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.80291	-0.1444	9	0.52906	T	0.07	-16.8937	17.2132	0.86936	0.0:0.0:1.0:0.0	.	113	Q9BTP7	FAP24_HUMAN	R	113	.	ENSP00000254262:G113R	G	+	1	0	C19orf40	38156899	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.004000	0.93583	2.229000	0.72834	0.467000	0.42956	GGA	.	.	none		0.483	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		A	33465059	G	A	33465059	3	1	8	1	0	0	0	0	1	0	0	0	1923	1349	47	2	347	2	C19orf40	19	33465059	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	1696207	33465059	25663924	178	1702										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgctgccaccactgttgccaCtgctgccaccactgctgccg					rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000419602.1_Intron|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																					p.274_290del		Atlas-Indel	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.820_870del						PASS	.		,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				SO:0001651	inframe_deletion	93099	exon5			.	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	72	53	0.736111	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	none		0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		-	36002412	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	36002362	7	5	8	1	0	1	0	1	0	0	0	0	4582	565	20	0	926	0	DMKN	19	36002362	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	TCGA-FA-A82F-01A-11D-A382-10	2537303	36002362	23126621	179	1703										
MED29	55588	hgsc.bcm.edu	37	chr19	39884260	39884260	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agttctatgcactctgtgacCagctggagctgtgcctggta	12	10	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:39884260C>T	ENST00000599213.2	+	3	370	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000594368.1_Nonsense_Mutation_p.Q115*|MED29_ENST00000315588.5_Nonsense_Mutation_p.Q136*|PAF1_ENST00000221265.3_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTCTGTGACCAGCTGGAGCT	0.502																																					p.Q136X		Atlas-SNP	.											.	MED29	13	.	0			c.C406T						PASS	.						160	158	159					19																	39884260		2203	4300	6503	SO:0001587	stop_gained	55588	exon3			TGTGACCAGCTGG	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.343C>T	19.37:g.39884260C>T	ENSP00000471802:p.Gln115*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	54	11	0.203704	NM_017592	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	c	34	5.321841	0.95682	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4415	14.4916	0.67654	0.0:1.0:0.0:0.0	.	.	.	.	X	136;54	.	ENSP00000314343:Q136X	Q	+	1	0	MED29	44576100	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.286000	0.78671	2.261000	0.74972	0.558000	0.71614	CAG	.	.	none		0.502	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		T	39884260	C	T	39884260	4	4	8	1	0	0	0	0	0	1	0	0	9447	595	21	2	416	2	MED29	19	39884260	Nonsense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	3881898	39884260	19244723	180	1704										
POU2F2	5452	hgsc.bcm.edu	37	chr19	42603967	42603967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ctggagctggaggagctgctGtatgtcctggcagggagtgg	19	7	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:42603967G>A	ENST00000526816.2	-	6	325	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	POU2F2_ENST00000529952.1_Nonsense_Mutation_p.Q104*|POU2F2_ENST00000533720.1_Nonsense_Mutation_p.Q104*|POU2F2_ENST00000342301.4_Nonsense_Mutation_p.Q104*|POU2F2_ENST00000529067.1_Nonsense_Mutation_p.Q104*|POU2F2_ENST00000389341.5_Nonsense_Mutation_p.Q104*|POU2F2_ENST00000560398.1_Nonsense_Mutation_p.Q126*|POU2F2_ENST00000560558.1_Nonsense_Mutation_p.Q65*			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	104					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGGAGCTGCTGTATGTCCTGG	0.617																																					p.Q104X		Atlas-SNP	.											.	POU2F2	106	.	0			c.C310T						PASS	.						37	37	37					19																	42603967		2191	4286	6477	SO:0001587	stop_gained	5452	exon6			GCTGCTGTATGTC		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.310C>T	19.37:g.42603967G>A	ENSP00000431603:p.Gln104*	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	77	25	0.324675	NM_002698	Q16648|Q7M4M8|Q9BRS4	Nonsense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924697	0.73213	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	.	.	.	4.93	4.93	0.64822	.	0.968583	0.08425	N	0.947819	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.4661	0.87633	0.0:0.0:1.0:0.0	.	.	.	.	X	104;104;104;104;103;104;104;92	.	ENSP00000292077:Q104X	Q	-	1	0	POU2F2	47295807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.174000	0.89682	2.746000	0.94184	0.655000	0.94253	CAG	.	.	none		0.617	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42603967	G	A	42603967	4	1	8	1	0	0	0	0	0	1	0	0	12272	1386	48	2	1117	2	POU2F2	19	42603967	Nonsense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2719707	42603967	16525016	181	1705										
ZNF83	55769	hgsc.bcm.edu	37	chr19	53116801	53116801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ttgtaaggtttctctccagtGtggattctccagtgatttac	9	8	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:53116801G>A	ENST00000597597.1	-	2	3270	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000301096.3_Silent_p.H339H			P51522	ZNF83_HUMAN	zinc finger protein 83	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418																																					p.H339H		Atlas-SNP	.											ZNF83,NS,carcinoma,0,2	ZNF83	73	2	0			c.C1017T						scavenged	.						118	120	120					19																	53116801		2203	4300	6503	SO:0001819	synonymous_variant	55769	exon3			TCCAGTGTGGATT	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1017C>T	19.37:g.53116801G>A		Somatic	154	5	0.0324675		WXS	Illumina HiSeq	Phase_I	131	14	0.10687	NM_018300	A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	CCDS12854.1																																																																																			.	.	none		0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		A	53116801	G	A	53116801	2	1	8	1	0	0	0	0	0	0	0	1	18180	1368	48	2		2	ZNF83	19	53116801	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	10512834	53116801	6012182	182	1706										
IL11	3589	hgsc.bcm.edu	37	chr19	55880213	55880213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tgctgtccagctcggcccgaGggtctggggaaactcgaggg	17	11	1	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr19:55880213G>T	ENST00000264563.2	-	2	166	c.104C>A	c.(103-105)cCt>cAt	p.P35H	IL11_ENST00000585513.1_Missense_Mutation_p.P35H|IL11_ENST00000590625.1_Intron	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	35					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTCGGCCCGAGGGTCTGGGGA	0.692																																					p.P35H		Atlas-SNP	.											IL11,colon,carcinoma,0,1	IL11	16	1	0			c.C104A						scavenged	.						12	14	13					19																	55880213		2186	4280	6466	SO:0001583	missense	3589	exon2			GCCCGAGGGTCTG	X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"Interleukins and interleukin receptors", "Endogenous ligands"	5966	protein-coding gene	gene with protein product	"adipogenesis inhibitory factor", "oprelvekin"	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.104C>A	19.37:g.55880213G>T	ENSP00000264563:p.Pro35His	Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	251	4	0.0159363	NM_000641	B4DQV5|Q96EB4	Missense_Mutation	SNP	ENST00000264563.2	37	CCDS12923.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.866782	0.32977	.	.	ENSG00000095752	ENST00000264563	T	0.44881	0.91	3.64	2.59	0.31030	Four-helical cytokine-like, core (1);	0.000000	0.47455	D	0.000222	T	0.37732	0.1014	N	0.19112	0.55	0.19775	N	0.999957	P	0.50710	0.938	P	0.54372	0.75	T	0.12837	-1.0532	10	0.62326	D	0.03	-12.3174	9.0555	0.36403	0.1122:0.0:0.8878:0.0	.	35	P20809	IL11_HUMAN	H	35	ENSP00000264563:P35H	ENSP00000264563:P35H	P	-	2	0	IL11	60572025	0.998000	0.40836	0.658000	0.29665	0.549000	0.35272	2.989000	0.49393	0.891000	0.36235	-0.244000	0.11960	CCT	.	.	none		0.692	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453027.1	NM_000641		T	55880213	G	T	55880213	3	4	8	1	0	0	0	0	1	0	0	0	7622	1000	35	4	511	4	IL11	19	55880213	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	2763412	55880213	3248770	183	1707										
PANK2	80025	hgsc.bcm.edu	37	chr20	3891366	3891367	+	Frame_Shift_Ins	INS	-	-	A													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tctgaaaagtgtcagaagttINSaccatttgatttgaaaaatc							TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr20:3891366_3891367insA	ENST00000316562.4	+	3	1130_1131	c.1124_1125insA	c.(1123-1128)ttaccafs	p.P376fs	PANK2_ENST00000610179.1_Frame_Shift_Ins_p.P253fs|PANK2_ENST00000497424.1_Frame_Shift_Ins_p.P85fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	376					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCAGAAGTTACCATTTGATT	0.386																																					p.L375fs		Pindel,Atlas-Indel	.											.	PANK2	37	.	0			c.1124_1125insA						PASS	.																																			SO:0001589	frameshift_variant	80025	exon3			.	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1125dupA	20.37:g.3891367_3891367dupA	ENSP00000313377:p.Pro376fs	Somatic	131	.	.		WXS	Illumina HiSeq	Phase_I	148	39	0.264	NM_153638	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Ins	INS	ENST00000316562.4	37	CCDS13071.2																																																																																			.	.	none		0.386	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		A	3891367	-	A	3891366	7	5	8	1	0	1	1	0	0	0	0	0	11417	1764	61	0	1134	0	PANK2	20	3891366	Frame_Shift_Ins	INS	-	TCGA-FA-A82F-01A-11D-A382-10		3891366	59134154	184	1708										
C20orf26	26074	hgsc.bcm.edu	37	chr20	20037347	20037347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggtagaagttgttcattgccGaagaacagaatcacaggatg	12	6	2	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr20:20037347G>T	ENST00000245957.5	+	2	126	c.50G>T	c.(49-51)cGa>cTa	p.R17L	C20orf26_ENST00000377306.1_Missense_Mutation_p.R17L|C20orf26_ENST00000377309.2_5'UTR|CRNKL1_ENST00000377340.2_5'Flank|CRNKL1_ENST00000377327.4_5'Flank|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R17L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		17										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTCATTGCCGAAGAACAGAA	0.348																																					p.R17L		Atlas-SNP	.											C20orf26,colon,carcinoma,0,1	C20orf26	188	1	0			c.G50T						scavenged	.						125	131	129					20																	20037347		2203	4300	6503	SO:0001583	missense	26074	exon2			ATTGCCGAAGAAC																												ENST00000245957.5:c.50G>T	20.37:g.20037347G>T	ENSP00000245957:p.Arg17Leu	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	161	4	0.0248447	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131197	0.94473	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.59731	-0.7399	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	17;17;17	Q8NHU2-3;F8W6K4;Q8NHU2	.;.;CT026_HUMAN	L	17	ENSP00000245957:R17L;ENSP00000366521:R17L;ENSP00000366518:R17L;ENSP00000417086:R17L;ENSP00000414537:R17L	ENSP00000245957:R17L	R	+	2	0	C20orf26	19985347	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.242000	0.89818	2.937000	0.99478	0.650000	0.86243	CGA	.	.	none		0.348	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20037347	G	T	20037347	3	4	8	1	0	0	0	0	1	0	0	0	2106	1058	37	4	52	4	C20orf26	20	20037347	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	16145981	20037347	42988173	185	1709										
NINL	22981	hgsc.bcm.edu	37	chr20	25462663	25462663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccgggctccatgaggggctgTgccggttcttgggcagccgc	17	13	1	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr20:25462663T>A	ENST00000278886.6	-	14	1824	c.1751A>T	c.(1750-1752)cAc>cTc	p.H584L	NINL_ENST00000422516.1_Missense_Mutation_p.H584L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	584					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						TGAGGGGCTGTGCCGGTTCTT	0.697																																					p.H584L		Atlas-SNP	.											.	NINL	148	.	0			c.A1751T						PASS	.						42	49	47					20																	25462663		2202	4300	6502	SO:0001583	missense	22981	exon14			GGGCTGTGCCGGT		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.1751A>T	20.37:g.25462663T>A	ENSP00000278886:p.His584Leu	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	6.869	0.529744	0.13127	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.29917	1.8;1.55	4.52	-4.41	0.03590	.	1.487320	0.04044	N	0.303550	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	1	P;B	0.38370	0.628;0.276	B;B	0.33254	0.16;0.037	T	0.17137	-1.0379	10	0.11182	T	0.66	-0.0542	7.4738	0.27363	0.0:0.1375:0.235:0.6276	.	584;584	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	L	584	ENSP00000278886:H584L;ENSP00000410431:H584L	ENSP00000278886:H584L	H	-	2	0	NINL	25410663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.352000	0.07701	-0.660000	0.05352	0.454000	0.30748	CAC	.	.	none		0.697	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		A	25462663	T	A	25462663	3	1	8	1	0	0	0	0	1	0	0	0	10420	1696	59	5	2441	5	NINL	20	25462663	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	5425316	25462663	37562857	186	1710										
CDH4	1002	hgsc.bcm.edu	37	chr20	60427861	60427861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	acaaggtggagaaccccatcGacctgtacatctacgtcatc	8	13	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr20:60427861G>A	ENST00000360469.5	+	6	872	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CDH4_ENST00000543233.1_Missense_Mutation_p.D188N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	262	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAACCCCATCGACCTGTACAT	0.597																																					p.D262N		Atlas-SNP	.											.	CDH4	172	.	0			c.G784A						PASS	.						174	131	146					20																	60427861		2203	4300	6503	SO:0001583	missense	1002	exon6			CCCATCGACCTGT	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.784G>A	20.37:g.60427861G>A	ENSP00000353656:p.Asp262Asn	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	59	19	0.322034	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546059	0.65198	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.50548	0.74;0.74	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.050803	0.85682	D	0.000000	T	0.35307	0.0927	L	0.37630	1.12	0.80722	D	1	P	0.40431	0.717	B	0.29716	0.106	T	0.21042	-1.0257	9	.	.	.	.	17.758	0.88455	0.0:0.0:1.0:0.0	.	262	P55283	CADH4_HUMAN	N	262;170;188	ENSP00000353656:D262N;ENSP00000443301:D188N	.	D	+	1	0	CDH4	59861256	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.517000	0.98020	2.202000	0.70862	0.561000	0.74099	GAC	.	.	none		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60427861	G	A	60427861	3	1	8	1	0	0	0	0	1	0	0	0	3112	1058	37	1	806	1	CDH4	20	60427861	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	34965198	60427861	2597659	187	1711										
NTSR1	4923	hgsc.bcm.edu	37	chr20	61386045	61386045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cctctcctgcaggtcaacacCttcatgtccttcatattccc	4	17	4	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr20:61386045C>T	ENST00000370501.3	+	2	1094	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	241					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGGTCAACACCTTCATGTCCT	0.612																																					p.T241T	GBM(37;400 780 6403 19663 35669)	Atlas-SNP	.											.	NTSR1	59	.	0			c.C723T						PASS	.						129	115	120					20																	61386045		2202	4300	6502	SO:0001819	synonymous_variant	4923	exon2			CAACACCTTCATG		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.723C>T	20.37:g.61386045C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	40	4	0.1	NM_002531	Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	CCDS13502.1																																																																																			.	.	none		0.612	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			T	61386045	C	T	61386045	2	4	8	1	0	0	0	0	0	0	0	1	10710	668	24	2		2	NTSR1	20	61386045	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	958184	61386045	1639475	188	1712										
HUNK	30811	hgsc.bcm.edu	37	chr21	33371069	33371069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	atcgcgacgaccacgtagaaGtgctgtctccctctcatcac	8	15	3	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr21:33371069G>A	ENST00000270112.2	+	11	2077	c.1717G>A	c.(1717-1719)Gtg>Atg	p.V573M		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	573					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CCACGTAGAAGTGCTGTCTCC	0.617																																					p.V573M		Atlas-SNP	.											.	HUNK	74	.	0			c.G1717A						PASS	.						84	62	69					21																	33371069		2203	4300	6503	SO:0001583	missense	30811	exon11			GTAGAAGTGCTGT	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1717G>A	21.37:g.33371069G>A	ENSP00000270112:p.Val573Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	88	33	0.375	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091199	0.07053	.	.	ENSG00000142149	ENST00000270112	T	0.67865	-0.29	4.39	-2.03	0.07365	.	0.724836	0.12754	N	0.441957	T	0.36799	0.0980	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.12167	-1.0558	10	0.40728	T	0.16	-0.7464	2.5976	0.04858	0.2287:0.2923:0.3446:0.1344	.	573	P57058	HUNK_HUMAN	M	573	ENSP00000270112:V573M	ENSP00000270112:V573M	V	+	1	0	HUNK	32292940	0.704000	0.27836	0.030000	0.17652	0.184000	0.23303	0.554000	0.23407	-0.353000	0.08224	-1.434000	0.01081	GTG	.	.	none		0.617	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		A	33371069	G	A	33371069	3	1	8	1	0	0	0	0	1	0	0	0	7458	1029	36	2	1759	2	HUNK	21	33371069	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		33371069	14758826	189	1713										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230295	23230295	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ggagctgggccctggtcccaGgcagcgctggcccctgctgc	16	16	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:23230295G>C	ENST00000526893.1	+	1	336	c.62G>C	c.(61-63)aGg>aCg	p.R21T	IGLL5_ENST00000532223.2_Missense_Mutation_p.R21T|IGLL5_ENST00000531372.1_Missense_Mutation_p.R21T|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	21						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTGGTCCCAGGCAGCGCTGG	0.672																																					p.R21T		Atlas-SNP	.											.	IGLL5	26	.	0			c.G62C						PASS	.																																			SO:0001583	missense	100423062	exon1			GTCCCAGGCAGCG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.62G>C	22.37:g.23230295G>C	ENSP00000431254:p.Arg21Thr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	111	33	0.297297	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157214	0.21454	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00609	6.24;6.25	3.25	-1.58	0.08479	.	.	.	.	.	T	0.00468	0.0015	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.44647	0.456	T	0.49532	-0.8930	9	0.20519	T	0.43	.	3.5094	0.07703	0.3613:0.1968:0.4419:0.0	.	21	B9A064	IGLL5_HUMAN	T	21	ENSP00000436353:R21T;ENSP00000431254:R21T	ENSP00000431254:R21T	R	+	2	0	IGLL5	21560295	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.328000	0.07945	-0.196000	0.10366	0.643000	0.83706	AGG	.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230295	G	C	23230295	3	2	8	1	0	0	0	0	1	0	0	0	7594	1000	35	4	64	4	IGLL5	22	23230295	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		23230295	28074271	190	1714			5	14		3	3	106	N	T_G_C	2.165522e-07
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230348	23230348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccatggtcgcccatggcctgCtgcgcccaatggttgcaccg	12	16	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:23230348C>T	ENST00000526893.1	+	1	389	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IGLL5_ENST00000532223.2_Silent_p.L39L|IGLL5_ENST00000531372.1_Silent_p.L39L|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	39						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCATGGCCTGCTGCGCCCAAT	0.687																																					p.L39L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C115T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GGCCTGCTGCGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.115C>T	22.37:g.23230348C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	95	32	0.336842	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.687	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230348	C	T	23230348	2	4	8	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230348	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	53	23230348	28074218	191	1715			5	14		3	3	106	N	T_G_C	2.165522e-07
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230400	23230400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cccagaccctggagcctcagTtggaagcagccgatccagcc	11	16	1	1	rs189360394		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:23230400T>C	ENST00000526893.1	+	1	441	c.167T>C	c.(166-168)gTt>gCt	p.V56A	IGLL5_ENST00000532223.2_Missense_Mutation_p.V56A|IGLL5_ENST00000531372.1_Missense_Mutation_p.V56A|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	56						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGAGCCTCAGTTGGAAGCAGC	0.667													T|||	1	0.000199681	0.0	0.0014	5008	,	,		10673	0.0		0.0	False		,,,				2504	0.0				p.V56A		Atlas-SNP	.											.	IGLL5	26	.	0			c.T167C						PASS	.																																			SO:0001583	missense	100423062	exon1			CCTCAGTTGGAAG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.167T>C	22.37:g.23230400T>C	ENSP00000431254:p.Val56Ala	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	97	29	0.298969	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	0.035	-1.312432	0.01331	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00571	6.5;6.5	3.92	-3.93	0.04143	.	.	.	.	.	T	0.00356	0.0011	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45071	-0.9286	9	0.54805	T	0.06	.	0.8497	0.01169	0.1514:0.2511:0.2977:0.2998	.	56	B9A064	IGLL5_HUMAN	A	56	ENSP00000436353:V56A;ENSP00000431254:V56A	ENSP00000431254:V56A	V	+	2	0	IGLL5	21560400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-0.629000	0.05575	-1.272000	0.01410	GTT	T|1.000;C|0.000	0.000	strong		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230400	T	C	23230400	3	2	8	1	0	0	0	0	1	0	0	0	7594	1725	60	2	169	2	IGLL5	22	23230400	Missense_Mutation	SNP	T	TCGA-FA-A82F-01A-11D-A382-10	52	23230400	28074166	192	1716			5	14		3	3	106	N	T_G_C	2.165522e-07
NEFH	4744	hgsc.bcm.edu	37	chr22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	ccaagtctccaacgaaggagGaagcaaagtcccctgagaag					rs370929798		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		Atlas-SNP	.											NEFH,rectum,carcinoma,-2,1	NEFH	178	1	0			c.G1933A						scavenged	.						82	88	86					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	42	1	0.0238095		WXS	Illumina HiSeq	Phase_I	30	10	0.333333	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885562	G	A	29885562	3	1	8	1	0	0	0	0	1	0	0	0	10314	1175	41	2	1947	2	NEFH	22	29885562	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	6655162	29885562	21419004	193	1717	38	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						PASS	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	31	12	0.387097	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	8	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	2	29885564	21419002	194	1718	38	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						PASS	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	8	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	3	29885567	21418999	195	1719	38	3								
APOL5	80831	hgsc.bcm.edu	37	chr22	36122574	36122574	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gtttctggggtcatgaacatCctgggtttggccctagcacc	12	11	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:36122574C>T	ENST00000249044.2	+	3	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	153					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCATGAACATCCTGGGTTTGG	0.567																																					p.I153I		Atlas-SNP	.											.	APOL5	45	.	0			c.C459T						PASS	.						66	67	67					22																	36122574		2203	4300	6503	SO:0001819	synonymous_variant	80831	exon3			GAACATCCTGGGT	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.459C>T	22.37:g.36122574C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	109	27	0.247706	NM_030642	Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	CCDS13920.1																																																																																			.	.	none		0.567	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		T	36122574	C	T	36122574	2	4	8	1	0	0	0	0	0	0	0	1	809	845	30	2		2	APOL5	22	36122574	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	6237007	36122574	15181992	196	1720										
MPPED1	758	hgsc.bcm.edu	37	chr22	43870785	43870785	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tcgctgctgaccaactgcatCtaccttcaggactcggaggt	10	13	2	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:43870785C>A	ENST00000417669.2	+	4	1020	c.576C>A	c.(574-576)atC>atA	p.I192I	MPPED1_ENST00000414469.2_Silent_p.I86I|MPPED1_ENST00000439548.1_Silent_p.I34I|MPPED1_ENST00000542779.1_Silent_p.I192I|MPPED1_ENST00000538182.1_Silent_p.I225I|MPPED1_ENST00000443721.1_Silent_p.I192I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	192							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCAACTGCATCTACCTTCAGG	0.577																																					p.I192I		Atlas-SNP	.											.	MPPED1	59	.	0			c.C576A						PASS	.						108	112	111					22																	43870785		2047	4195	6242	SO:0001819	synonymous_variant	758	exon4			CTGCATCTACCTT	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.576C>A	22.37:g.43870785C>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	85	24	0.282353	NM_001044370	A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	CCDS46723.1																																																																																			.	.	none		0.577	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		A	43870785	C	A	43870785	2	1	8	1	0	0	0	0	0	0	0	1	9741	903	32	4		4	MPPED1	22	43870785	Silent	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	7748211	43870785	7433781	197	1721										
MLC1	23209	hgsc.bcm.edu	37	chr22	50521550	50521550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gcaagtaatccatctcagccGggaacacgttccccaggtac	9	14	1	0	rs145484765		TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chr22:50521550G>A	ENST00000311597.5	-	3	836	c.230C>T	c.(229-231)cCg>cTg	p.P77L	MLC1_ENST00000538737.1_Missense_Mutation_p.P77L|MLC1_ENST00000395876.2_Missense_Mutation_p.P77L|MLC1_ENST00000431262.2_Intron|MLC1_ENST00000535444.1_5'UTR|MLC1_ENST00000450140.2_Missense_Mutation_p.P77L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	77					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CATCTCAGCCGGGAACACGTT	0.612																																					p.P77L		Atlas-SNP	.											.	MLC1	48	.	0			c.C230T						PASS	.	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	173	137	149		230,230	5.1	0.9	22	dbSNP_134	149	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MLC1	NM_015166.3,NM_139202.2	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	77/378,77/378	50521550	3,13003	2203	4300	6503	SO:0001583	missense	23209	exon3			TCAGCCGGGAACA	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.230C>T	22.37:g.50521550G>A	ENSP00000310375:p.Pro77Leu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	50	15	0.3	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226551	0.79576	0.0	3.49E-4	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000450140	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96877	0.9643	10	0.87932	D	0	-1.3356	17.2773	0.87119	0.0:0.0:1.0:0.0	.	77;77;77	F5H1B9;B7Z1X1;Q15049	.;.;MLC1_HUMAN	L	77	ENSP00000379216:P77L;ENSP00000310375:P77L;ENSP00000445805:P77L;ENSP00000412448:P77L	ENSP00000310375:P77L	P	-	2	0	MLC1	48863677	1.000000	0.71417	0.902000	0.35471	0.418000	0.31294	8.814000	0.91968	2.360000	0.80028	0.655000	0.94253	CCG	G|1.000;A|0.000	0.000	weak		0.612	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		A	50521550	G	A	50521550	3	1	8	1	0	0	0	0	1	0	0	0	9612	1116	39	1	943	1	MLC1	22	50521550	Missense_Mutation	SNP	G	TCGA-FA-A82F-01A-11D-A382-10	6650765	50521550	783016	198	1722										
ARSE	415	hgsc.bcm.edu	37	chrX	2873470	2873470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	gactgacctgatcgcacaggGtatctgcccgtgaggaaggc	14	11	1	3			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chrX:2873470G>A	ENST00000381134.3	-	4	360	c.294C>T	c.(292-294)taC>taT	p.Y98Y	ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000540563.1_Silent_p.Y53Y|ARSE_ENST00000545496.1_Silent_p.Y123Y	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	98					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCGCACAGGGTATCTGCCCG	0.498																																					p.Y98Y		Atlas-SNP	.											.	ARSE	43	.	0			c.C294T						PASS	.						106	69	82					X																	2873470		2203	4300	6503	SO:0001819	synonymous_variant	415	exon4			CACAGGGTATCTG	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.294C>T	X.37:g.2873470G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_000047	Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	CCDS14122.1																																																																																			.	.	none		0.498	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		A	2873470	G	A	2873470	2	1	8	1	0	0	0	0	0	0	0	1	990	1256	44	2		2	ARSE	23	2873470	Silent	SNP	G	TCGA-FA-A82F-01A-11D-A382-10		2873470	152397090	199	1723										
KDM6A	7403	hgsc.bcm.edu	37	chrX	44942730	44942730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	agttgcagctacatgagctgActaaacttcctgcttttgtg	9	9	0	2			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chrX:44942730A>C	ENST00000377967.4	+	23	3351	c.3310A>C	c.(3310-3312)Act>Cct	p.T1104P	KDM6A_ENST00000543216.1_Missense_Mutation_p.T1025P|KDM6A_ENST00000536777.1_Missense_Mutation_p.T1059P|KDM6A_ENST00000382899.4_Missense_Mutation_p.T1111P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1104	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACATGAGCTGACTAAACTTCC	0.398			"D, N, F, S"		"renal, oesophageal SCC, MM"																																p.T1104P	Colon(129;1273 1667 15230 27352 52914)	Atlas-SNP	.		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	.	KDM6A	274	.	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)	c.A3310C						PASS	.						142	106	118					X																	44942730		2203	4300	6503	SO:0001583	missense	7403	exon23			GAGCTGACTAAAC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3310A>C	X.37:g.44942730A>C	ENSP00000367203:p.Thr1104Pro	Somatic	356	0	0		WXS	Illumina HiSeq	Phase_I	200	113	0.565	NM_021140	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.42|18.42	3.619989|3.619989	0.66787|0.66787	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.79247	.|-1.25;-1.25;-1.25;-1.25	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.149876	.|0.64402	.|D	.|0.000018	D|D	0.82944|0.82944	0.5147|0.5147	L|L	0.60455|0.60455	1.87|1.87	0.53688|0.53688	D|D	0.999971|0.999971	.|P;P;P;P;P	.|0.51147	.|0.838;0.852;0.942;0.592;0.88	.|B;P;P;B;P	.|0.55871	.|0.202;0.474;0.786;0.239;0.623	D|D	0.84984|0.84984	0.0890|0.0890	5|10	.|0.87932	.|D	.|0	-7.075|-7.075	14.2463|14.2463	0.65990|0.65990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|743;1111;1059;1156;1104	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	A|P	701;746|801;1104;1059;1111;1025	.|ENSP00000367203:T1104P;ENSP00000437405:T1059P;ENSP00000372355:T1111P;ENSP00000443078:T1025P	.|ENSP00000334340:T801P	D|T	+|+	2|1	0|0	KDM6A|KDM6A	44827674|44827674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.818000|5.818000	0.69236|0.69236	1.742000|1.742000	0.51746|0.51746	0.472000|0.472000	0.43445|0.43445	GAC|ACT	.	.	none		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		C	44942730	A	C	44942730	3	2	8	1	0	0	0	0	1	0	0	0	8137	275	10	5	3400	5	KDM6A	23	44942730	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	42069260	44942730	110327830	200	1724										
AMOT	154796	hgsc.bcm.edu	37	chrX	112065819	112065819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	tggtggccagtgacatctgcAttagtcgttcactcaaggaa	11	9	3	1			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chrX:112065819A>G	ENST00000524145.1	-	2	610	c.536T>C	c.(535-537)aTg>aCg	p.M179T	AMOT_ENST00000371962.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000462114.1_5'Flank|AMOT_ENST00000371959.3_Missense_Mutation_p.M179T|AMOT_ENST00000371958.1_5'Flank			Q4VCS5	AMOT_HUMAN	angiomotin	179					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGACATCTGCATTAGTCGTTC	0.537																																					p.M179T		Atlas-SNP	.											.	AMOT	204	.	0			c.T536C						PASS	.						264	194	215					X																	112065819		692	1591	2283	SO:0001583	missense	154796	exon1			ATCTGCATTAGTC	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.536T>C	X.37:g.112065819A>G	ENSP00000429013:p.Met179Thr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	83	40	0.481928	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.296211	0.60086	.	.	ENSG00000126016	ENST00000371959;ENST00000524145	T;T	0.16196	2.36;2.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.77103	2.36	0.58432	D	0.999999	D	0.62365	0.991	D	0.68192	0.956	T	0.32295	-0.9912	9	.	.	.	-14.4782	14.2221	0.65833	1.0:0.0:0.0:0.0	.	179	Q4VCS5	AMOT_HUMAN	T	179	ENSP00000361027:M179T;ENSP00000429013:M179T	.	M	-	2	0	AMOT	111952475	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.339000	0.96797	1.956000	0.56807	0.486000	0.48141	ATG	.	.	none		0.537	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		G	112065819	A	G	112065819	3	3	8	1	0	0	0	0	1	0	0	0	582	217	8	2	2762	2	AMOT	23	112065819	Missense_Mutation	SNP	A	TCGA-FA-A82F-01A-11D-A382-10	67123089	112065819	43204741	201	1725										
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153039097	153039097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041025641025641	8	1	0.669948392219135	2.30294759825327	0.391991080553749	1	1	0	cccagccccaggacccacagCcaaggaggagctgtggagcc	13	16	0	0			TCGA-FA-A82F-01A-11D-A382-10	TCGA-FA-A82F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ebd77cf-f8b7-4164-9d3c-dac8c78331ef	089c6a18-5963-41a2-8224-5793318db837	g.chrX:153039097C>A	ENST00000361971.5	+	19	3322	c.3208C>A	c.(3208-3210)Cca>Aca	p.P1070T	PLXNB3_ENST00000538966.1_Missense_Mutation_p.P1093T|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P723T|PLXNB3_ENST00000538282.1_Missense_Mutation_p.P680T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1070	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCACAGCCAAGGAGGAG	0.697																																					p.P1093T		Atlas-SNP	.											.	PLXNB3	208	.	0			c.C3277A						PASS	.						10	10	10					X																	153039097		2157	4225	6382	SO:0001583	missense	5365	exon20			CCACAGCCAAGGA	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3208C>A	X.37:g.153039097C>A	ENSP00000355378:p.Pro1070Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	46	29	0.630435	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.835091	0.32421	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.66460	5.36;5.32;4.73;-0.21	4.62	3.75	0.43078	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.818716	0.10553	N	0.661165	T	0.57548	0.2061	M	0.68593	2.085	0.09310	N	1	P;B;P	0.38922	0.651;0.375;0.514	B;B;B	0.36922	0.198;0.236;0.079	T	0.46925	-0.9156	10	0.06891	T	0.86	.	5.9284	0.19124	0.0:0.6995:0.19:0.1105	.	723;1093;1070	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	T	1093;1070;723;680	ENSP00000442736:P1093T;ENSP00000355378:P1070T;ENSP00000445569:P723T;ENSP00000441919:P680T	ENSP00000355378:P1070T	P	+	1	0	PLXNB3	152692291	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.402000	0.20965	0.740000	0.32651	0.436000	0.28706	CCA	.	.	none		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153039097	C	A	153039097	3	1	8	1	0	0	0	0	1	0	0	0	12125	739	26	4	3396	4	PLXNB3	23	153039097	Missense_Mutation	SNP	C	TCGA-FA-A82F-01A-11D-A382-10	40973278	153039097	2231463	202	1726										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921137	12921137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcaacctattagaagaggacTtgaagtgtctctcccagttc	9	10	1	3	rs17039283	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:12921137T>A	ENST00000240189.2	+	4	1015	c.928T>A	c.(928-930)Ttg>Atg	p.L310M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	310			L -> M (in dbSNP:rs17039283).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGACTTGAAGTGTCT	0.493																																					p.L310M		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	0			c.T928A						scavenged	.						132	134	133					1																	12921137		2202	4297	6499	SO:0001583	missense	65122	exon4			GAGGACTTGAAGT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.928T>A	1.37:g.12921137T>A	ENSP00000240189:p.Leu310Met	Somatic	118	2	0.0169492		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	2.970	-0.212708	0.06140	.	.	ENSG00000120952	ENST00000240189	T	0.01076	5.37	0.824	-1.65	0.08291	.	0.471727	0.17963	N	0.156117	T	0.00936	0.0031	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.21360	0.034	T	0.44742	-0.9308	10	0.38643	T	0.18	.	5.2047	0.15285	0.0:0.0:0.2907:0.7093	rs17039283	310	O60811	PRAM2_HUMAN	M	310	ENSP00000240189:L310M	ENSP00000240189:L310M	L	+	1	2	PRAMEF2	12843724	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	-0.072000	0.11486	-1.430000	0.01985	-1.205000	0.01647	TTG	T|1.000;|0.000	.	weak		0.493	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12921137	T	A	12921137	3	1	9	1	0	0	0	0	1	0	0	0	12435	1606	56	5	938	5	PRAMEF2	1	12921137	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10		12921137	236329484	1	1727										
SPEN	23013	hgsc.bcm.edu	37	chr1	16255388	16255388	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tggttttgactcgagtgaaaGagaaagagggaaaggtcatt	14	3	1	4			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:16255388G>T	ENST00000375759.3	+	11	2857	c.2653G>T	c.(2653-2655)Gag>Tag	p.E885*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	885					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGAGTGAAAGAGAAAGAGGG	0.453																																					p.E885X		Atlas-SNP	.											.	SPEN	374	.	0			c.G2653T						PASS	.						104	110	108					1																	16255388		2203	4300	6503	SO:0001587	stop_gained	23013	exon11			GTGAAAGAGAAAG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2653G>T	1.37:g.16255388G>T	ENSP00000364912:p.Glu885*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	66	6	0.0909091	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	40	8.364123	0.98779	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-13.6494	18.3094	0.90194	0.0:0.0:1.0:0.0	.	.	.	.	X	885	.	ENSP00000364912:E885X	E	+	1	0	SPEN	16127975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.792000	0.91856	2.548000	0.85928	0.591000	0.81541	GAG	.	.	none		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16255388	G	T	16255388	4	4	9	1	0	0	0	0	0	1	0	0	15037	943	33	4	2695	4	SPEN	1	16255388	Nonsense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	3334251	16255388	232995233	2	1728										
PADI1	29943	hgsc.bcm.edu	37	chr1	17566209	17566209	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cttcttgcagggttaaaacaCcaggcaaaaagaagcattaa	8	8	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:17566209C>G	ENST00000375471.4	+	14	1655	c.1563C>G	c.(1561-1563)caC>caG	p.H521Q	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.H78Q|PADI1_ENST00000537499.1_Missense_Mutation_p.H78Q|PADI1_ENST00000536552.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	521					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTTAAAACACCAGGCAAAAA	0.517																																					p.H521Q	Esophageal Squamous(80;414 1257 4580 27746 50832)	Atlas-SNP	.											.	PADI1	77	.	0			c.C1563G						PASS	.						63	61	62					1																	17566209		2203	4300	6503	SO:0001583	missense	29943	exon14			AAAACACCAGGCA	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1563C>G	1.37:g.17566209C>G	ENSP00000364620:p.His521Gln	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	128	14	0.109375	NM_013358	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	3.748	-0.052131	0.07362	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717	T;T;T	0.21361	2.01;2.01;2.01	5.0	-3.5	0.04710	Protein-arginine deiminase, C-terminal (1);	1.843040	0.02096	N	0.053523	T	0.14141	0.0342	L	0.39898	1.24	0.18873	N	0.999982	B;B	0.13594	0.008;0.002	B;B	0.14578	0.011;0.005	T	0.15549	-1.0433	10	0.23302	T	0.38	-5.7269	0.9834	0.01441	0.1784:0.3415:0.1289:0.3512	.	78;521	B4DPX6;Q9ULC6	.;PADI1_HUMAN	Q	521;78;78	ENSP00000364620:H521Q;ENSP00000444032:H78Q;ENSP00000396697:H78Q	ENSP00000364620:H521Q	H	+	3	2	PADI1	17438796	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.834000	0.01693	-0.305000	0.08831	0.563000	0.77884	CAC	.	.	none		0.517	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		G	17566209	C	G	17566209	3	3	9	1	0	0	0	0	1	0	0	0	11377	506	18	4	1617	4	PADI1	1	17566209	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	1310821	17566209	231684412	3	1729										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608843	26608843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	actggggccgggaccgggacCgggactggggccgggaccgg	22	12	0	0	rs151149897|rs66614970|rs6667693		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:26608843C>A	ENST00000374222.1	-	16	1974	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	UBXN11_ENST00000374217.2_Missense_Mutation_p.G471C|UBXN11_ENST00000374221.3_Missense_Mutation_p.G504C|UBXN11_ENST00000374223.1_Missense_Mutation_p.G261C|UBXN11_ENST00000357089.4_Missense_Mutation_p.G471C|UBXN11_ENST00000314675.7_Missense_Mutation_p.G384C			Q5T124	UBX11_HUMAN	UBX domain protein 11	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactgggg	0.731																																					p.G504C		Atlas-SNP	.											UBXN11,NS,carcinoma,0,1	UBXN11	54	1	2	Insertion - In frame(1)|Deletion - In frame(1)	upper_aerodigestive_tract(1)|ovary(1)	c.G1510T						scavenged	.						16	17	17					1																	26608843		1719	3939	5658	SO:0001583	missense	91544	exon16			CGGGACCGGGACT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1510G>T	1.37:g.26608843C>A	ENSP00000363339:p.Gly504Cys	Somatic	26	5	0.192308		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	-	8.299	0.819400	0.16607	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.23950	1.88;1.92;2.21;2.14;2.14;2.21	.	.	.	.	.	.	.	.	T	0.24236	0.0587	N	0.08118	0	0.20638	N	0.999871	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.992;0.981	T	0.14172	-1.0482	8	0.72032	D	0.01	.	4.6597	0.12636	0.0:1.0:0.0:0.0	rs6667693	471;384;504	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	C	384;261;471;504;504;471	ENSP00000324721:G384C;ENSP00000363340:G261C;ENSP00000349601:G471C;ENSP00000363338:G504C;ENSP00000363339:G504C;ENSP00000363334:G471C	ENSP00000324721:G384C	G	-	1	0	UBXN11	26481430	0.005000	0.15991	0.167000	0.22817	0.175000	0.22909	-0.694000	0.05115	-0.000000	0.14550	0.000000	0.15137	GGT	C|0.500;A|0.500	0.500	weak		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608843	C	A	26608843	3	1	9	1	0	0	0	0	1	0	0	0	16910	652	23	4	56	4	UBXN11	1	26608843	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	9042634	26608843	222641778	4	1730										
ARID1A	8289	hgsc.bcm.edu	37	chr1	27101417	27101417	+	Frame_Shift_Del	DEL	C	C	-													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctgtgccccccatgacaaggCcccctccatctaactaccag							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:27101417delC	ENST00000324856.7	+	18	5070	c.4699delC	c.(4699-4701)cccfs	p.P1569fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1186fs|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1569					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGACAAGGCCCCCTCCATC	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.R1566fs		Atlas-Indel	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.4698delG						PASS	.						51	50	51					1																	27101417		2203	4300	6503	SO:0001589	frameshift_variant	8289	exon18			.	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.4699delC	1.37:g.27101417delC	ENSP00000320485:p.Pro1569fs	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	28	0.235294	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.	.	none		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27101417	C	-	27101417	7	5	9	1	0	1	0	1	0	0	0	0	913	739	26	0	4769	0	ARID1A	1	27101417	Frame_Shift_Del	DEL	C	TCGA-FA-A86F-01A-11D-A382-10	492574	27101417	222149204	5	1731										
INPP5B	3633	hgsc.bcm.edu	37	chr1	38355355	38355355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ccgacactgtgatagtggagGagcgaaccatgtcagtaatt	12	8	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:38355355G>A	ENST00000373026.1	-	8	911	c.911C>T	c.(910-912)tCc>tTc	p.S304F	INPP5B_ENST00000373024.3_Missense_Mutation_p.S224F|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373023.2_Missense_Mutation_p.S304F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S60F			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	304					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GATAGTGGAGGAGCGAACCAT	0.393																																					p.S224F		Atlas-SNP	.											.	INPP5B	76	.	0			c.C671T						PASS	.						157	146	149					1																	38355355		1845	4092	5937	SO:0001583	missense	3633	exon9			GTGGAGGAGCGAA	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.911C>T	1.37:g.38355355G>A	ENSP00000362117:p.Ser304Phe	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	122	6	0.0491803	NM_005540	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	G	18.95	3.732267	0.69189	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93488	-3.23;-3.11;-3.11;-3.07	5.85	5.85	0.93711	.	0.446945	0.25549	N	0.029904	D	0.96722	0.8930	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.983	D	0.96665	0.9492	10	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	304;224	P32019;P32019-2	I5P2_HUMAN;.	F	60;304;304;304;224	ENSP00000362118:S60F;ENSP00000362114:S304F;ENSP00000362117:S304F;ENSP00000362115:S224F	ENSP00000362114:S304F	S	-	2	0	INPP5B	38127942	1.000000	0.71417	0.998000	0.56505	0.482000	0.33219	4.276000	0.58933	2.768000	0.95171	0.655000	0.94253	TCC	.	.	none		0.393	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		A	38355355	G	A	38355355	3	1	9	1	0	0	0	0	1	0	0	0	7755	1174	41	2	2134	2	INPP5B	1	38355355	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	11253938	38355355	210895266	6	1732										
SLC5A9	200010	hgsc.bcm.edu	37	chr1	48688529	48688529	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	acgcctacgacatcagcgtgGtggtcatctactttgtcttc	9	12	4	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:48688529G>C	ENST00000438567.2	+	1	173	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L	SLC5A9_ENST00000533824.1_Missense_Mutation_p.V41L|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V34L|SLC5A9_ENST00000236495.5_Missense_Mutation_p.V41L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	41					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CATCAGCGTGGTGGTCATCTA	0.587																																					p.V41L		Atlas-SNP	.											.	SLC5A9	82	.	0			c.G121C						PASS	.						147	100	116					1																	48688529		2203	4300	6503	SO:0001583	missense	200010	exon1			AGCGTGGTGGTCA	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.121G>C	1.37:g.48688529G>C	ENSP00000401730:p.Val41Leu	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	135	9	0.0666667	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575087	0.28092	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.87412	-2.14;-2.15;-2.25;-1.56	4.83	3.92	0.45320	.	0.132348	0.49916	N	0.000137	T	0.76205	0.3955	N	0.16656	0.425	0.48830	D	0.999719	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.001;0.003;0.001	T	0.69034	-0.5252	10	0.19590	T	0.45	.	13.2689	0.60150	0.0:0.2305:0.7695:0.0	.	41;41;41	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	L	41;41;41;34	ENSP00000431900:V41L;ENSP00000401730:V41L;ENSP00000236495:V41L;ENSP00000408881:V34L	ENSP00000236495:V41L	V	+	1	0	SLC5A9	48461116	0.971000	0.33674	0.977000	0.42913	0.648000	0.38561	1.581000	0.36558	1.365000	0.46057	0.557000	0.71058	GTG	.	.	none		0.587	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		C	48688529	G	C	48688529	3	2	9	1	0	0	0	0	1	0	0	0	14672	1261	44	4	123	4	SLC5A9	1	48688529	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	10333174	48688529	200562092	7	1733										
NOTCH2NL	388677	hgsc.bcm.edu	37	chr1	145248876	145248876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aatgtgtgttacctaccacaAtggcacaggatactgcaagt	9	9	0	0	rs200866084		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:145248876A>G	ENST00000369340.3	+	3	464	c.20A>G	c.(19-21)aAt>aGt	p.N7S	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.N7S			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	7	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N7S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCTACCACAATGGCACAGGA	0.348																																					p.N7S		Atlas-SNP	.											NOTCH2NL_ENST00000362074,colon,carcinoma,0,2	NOTCH2NL	100	2	2	Substitution - Missense(2)	large_intestine(2)	c.A20G						scavenged	.						11	10	10					1																	145248876		2011	4104	6115	SO:0001583	missense	388677	exon2			ACCACAATGGCAC		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.20A>G	1.37:g.145248876A>G	ENSP00000358346:p.Asn7Ser	Somatic	2916	491	0.168381		WXS	Illumina HiSeq	Phase_I	2062	334	0.161979	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596096	0.46318	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.63255	-0.03;-0.03;-0.03	3.15	3.15	0.36227	Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47432	0.1445	L	0.35793	1.09	0.22552	N	0.998997	D;D	0.63880	0.993;0.988	P;P	0.55391	0.775;0.6	T	0.26087	-1.0113	9	0.49607	T	0.09	.	7.9433	0.29971	1.0:0.0:0.0:0.0	.	7;7	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	S	7	ENSP00000354929:N7S;ENSP00000344557:N7S;ENSP00000358346:N7S	ENSP00000344557:N7S	N	+	2	0	NOTCH2NL	143960233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.487000	0.60293	1.439000	0.47511	0.329000	0.21502	AAT	.	.	weak		0.348	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		G	145248876	A	G	145248876	3	3	9	1	0	0	0	0	1	0	0	0	10549	101	4	2	22	2	NOTCH2NL	1	145248876	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	96560347	145248876	104001745	8	1734										
HIST2H2BE	8349	hgsc.bcm.edu	37	chr1	149857825	149857825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gggactcacttggagctggtGtacttggtgaccgccttggt	15	9	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:149857825G>A	ENST00000369155.2	-	1	407	c.366C>T	c.(364-366)taC>taT	p.Y122Y	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	122					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGGAGCTGGTGTACTTGGTGA	0.657																																					p.Y122Y		Atlas-SNP	.											.	HIST2H2BE	33	.	0			c.C366T						PASS	.						30	35	33					1																	149857825		2202	4299	6501	SO:0001819	synonymous_variant	8349	exon1			GCTGGTGTACTTG	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.366C>T	1.37:g.149857825G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	166	9	0.0542169	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	ENST00000369155.2	37	CCDS936.1																																																																																			.	.	none		0.657	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		A	149857825	G	A	149857825	2	1	9	1	0	0	0	0	0	0	0	1	7179	1372	48	2		2	HIST2H2BE	1	149857825	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	4608949	149857825	99392796	9	1735										
TCHH	7062	hgsc.bcm.edu	37	chr1	152082269	152082269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctgctgcacctcctcttcctCccgatattgcctctccagct	5	19	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:152082269C>T	ENST00000368804.1	-	2	3423	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1142	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcttcctcccgatattgc	0.602																																					p.E1142K		Atlas-SNP	.											TCHH,NS,malignant_melanoma,0,1	TCHH	275	1	0			c.G3424A						scavenged	.						88	86	87					1																	152082269		1995	4159	6154	SO:0001583	missense	7062	exon3			CTTCCTCCCGATA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3424G>A	1.37:g.152082269C>T	ENSP00000357794:p.Glu1142Lys	Somatic	214	2	0.00934579		WXS	Illumina HiSeq	Phase_I	211	7	0.0331754	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334416	0.24253	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	2.89	1.94	0.25998	.	.	.	.	.	T	0.01489	0.0048	N	0.24115	0.695	0.09310	N	1	P	0.47762	0.9	B	0.37989	0.262	T	0.48445	-0.9035	9	0.46703	T	0.11	.	9.5203	0.39131	0.0:0.7829:0.2171:0.0	.	1142	Q07283	TRHY_HUMAN	K	1142	ENSP00000357794:E1142K	ENSP00000357794:E1142K	E	-	1	0	TCHH	150348893	0.001000	0.12720	0.001000	0.08648	0.229000	0.25112	0.771000	0.26633	0.375000	0.24679	0.455000	0.32223	GAG	.	.	none		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082269	C	T	152082269	3	4	9	1	0	0	0	0	1	0	0	0	15697	864	30	2	2411	2	TCHH	1	152082269	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	2224444	152082269	97168352	10	1736										
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749039	152749039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ggctgctgcagctctgggggTggtggctgctgcagctctgg	19	10	2	0	rs202038292|rs149277953	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:152749039T>C	ENST00000334371.2	+	1	192	c.192T>C	c.(190-192)ggT>ggC	p.G64G		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGTGGTGGCTGCT	0.672																																					p.G64G		Atlas-SNP	.											LCE1F,NS,carcinoma,+2,1	LCE1F	42	1	1	Deletion - In frame(1)	stomach(1)	c.T192C						scavenged	.						30	33	32					1																	152749039		2201	4299	6500	SO:0001819	synonymous_variant	353137	exon1			TGGGGGTGGTGGC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.192T>C	1.37:g.152749039T>C		Somatic	107	2	0.0186916		WXS	Illumina HiSeq	Phase_I	111	10	0.0900901	NM_178354		Silent	SNP	ENST00000334371.2	37	CCDS1023.1																																																																																			T|0.954;C|0.046	0.046	strong		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		C	152749039	T	C	152749039	2	2	9	1	0	0	0	0	0	0	0	1	8664	1683	59	2		2	LCE1F	1	152749039	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	666770	152749039	96501582	11	1737										
ITLN1	55600	hgsc.bcm.edu	37	chr1	160850422	160850422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	atgctgttttctgggcgtcgCcaaaatcatagaccacaggg	11	10	2	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:160850422C>T	ENST00000326245.3	-	6	756	c.641G>A	c.(640-642)gGc>gAc	p.G214D	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGGCGTCGCCAAAATCATA	0.438																																					p.G214D		Atlas-SNP	.											ITLN1,caecum,carcinoma,+1,1	ITLN1	45	1	0			c.G641A						PASS	.						181	181	181					1																	160850422		2203	4300	6503	SO:0001583	missense	55600	exon6			GCGTCGCCAAAAT	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.641G>A	1.37:g.160850422C>T	ENSP00000323587:p.Gly214Asp	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	91	22	0.241758	NM_017625	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496243	0.44352	.	.	ENSG00000179914	ENST00000326245	T	0.20200	2.09	4.17	3.25	0.37280	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.64402	D	0.000005	T	0.41282	0.1152	M	0.91510	3.215	0.45194	D	0.998203	D	0.89917	1.0	D	0.97110	1.0	T	0.50866	-0.8777	10	0.87932	D	0	-11.3367	9.6915	0.40131	0.0:0.8959:0.0:0.1041	.	214	Q8WWA0	ITLN1_HUMAN	D	214	ENSP00000323587:G214D	ENSP00000323587:G214D	G	-	2	0	ITLN1	159117046	0.856000	0.29760	0.825000	0.32803	0.184000	0.23303	4.577000	0.60922	0.942000	0.37525	0.655000	0.94253	GGC	.	.	none		0.438	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		T	160850422	C	T	160850422	3	4	9	1	0	0	0	0	1	0	0	0	7910	739	26	2	312	2	ITLN1	1	160850422	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	8101383	160850422	88400199	12	1738										
KCNH1	3756	hgsc.bcm.edu	37	chr1	210856924	210856924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctcacccacgttgtccaggCgcaagtcgctcttggtgatg	11	14	2	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:210856924C>T	ENST00000271751.4	-	11	2696	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R863H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	890					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTGTCCAGGCGCAAGTCGCT	0.592																																					p.R890H		Atlas-SNP	.											.	KCNH1	199	.	0			c.G2669A						PASS	.						73	67	69					1																	210856924		2203	4300	6503	SO:0001583	missense	3756	exon11			TCCAGGCGCAAGT	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2669G>A	1.37:g.210856924C>T	ENSP00000271751:p.Arg890His	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	136	6	0.0441176	NM_172362	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870929	0.72065	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99537	-6.03;-6.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71184	0.858;0.972	D	0.98847	1.0757	10	0.56958	D	0.05	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	863;890	Q14CL3;O95259	.;KCNH1_HUMAN	H	890;863	ENSP00000271751:R890H;ENSP00000355974:R863H	ENSP00000271751:R890H	R	-	2	0	KCNH1	208923547	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	7.538000	0.82048	2.290000	0.77057	0.561000	0.74099	CGC	.	.	none		0.592	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210856924	C	T	210856924	3	4	9	1	0	0	0	0	1	0	0	0	8031	768	27	1	304	1	KCNH1	1	210856924	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	50006502	210856924	38393697	13	1739										
KCTD3	51133	hgsc.bcm.edu	37	chr1	215751396	215751396	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cgttcctcttgtggcagtgtCctttttcatggttacttgcc	9	11	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:215751396C>T	ENST00000259154.4	+	6	663	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	123					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTGGCAGTGTCCTTTTTCATG	0.348																																					p.V123V		Atlas-SNP	.											.	KCTD3	101	.	0			c.C369T						PASS	.						187	180	182					1																	215751396		2203	4300	6503	SO:0001819	synonymous_variant	51133	exon6			CAGTGTCCTTTTT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.369C>T	1.37:g.215751396C>T		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	184	23	0.125	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083728	0.20309	.	.	ENSG00000136636	ENST00000448333	.	.	.	5.8	0.154	0.14901	.	.	.	.	.	T	0.60818	0.2298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57596	-0.7784	4	.	.	.	-26.6937	12.4313	0.55575	0.0:0.4808:0.4559:0.0632	.	.	.	.	S	96	.	.	P	+	1	0	KCTD3	213818019	0.883000	0.30277	0.984000	0.44739	0.988000	0.76386	-0.075000	0.11431	0.050000	0.15949	-0.479000	0.04858	CCT	.	.	none		0.348	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		T	215751396	C	T	215751396	2	4	9	1	0	0	0	0	0	0	0	1	8110	842	30	2		2	KCTD3	1	215751396	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	4894472	215751396	33499225	14	1740										
ZNF496	84838	hgsc.bcm.edu	37	chr1	247492064	247492064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gttatgggctgggcatcctgGttctttgcaaggtcgctgtg	15	8	1	0	rs146066456		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:247492064G>A	ENST00000294753.4	-	4	959	c.495C>T	c.(493-495)aaC>aaT	p.N165N	ZNF496_ENST00000366498.2_Silent_p.N165N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	165					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGCATCCTGGTTCTTTGCAA	0.627																																					p.N165N		Atlas-SNP	.											.	ZNF496	80	.	0			c.C495T						PASS	.						131	133	133					1																	247492064		2203	4300	6503	SO:0001819	synonymous_variant	84838	exon4			ATCCTGGTTCTTT	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.495C>T	1.37:g.247492064G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_032752	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																			G|1.000;T|0.000	.	alt		0.627	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		A	247492064	G	A	247492064	2	1	9	1	0	0	0	0	0	0	0	1	17942	1252	44	2		2	ZNF496	1	247492064	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	31740668	247492064	1758557	15	1741										
OR2T34	127068	hgsc.bcm.edu	37	chr1	248737510	248737511	+	Frame_Shift_Ins	INS	-	-	A													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcagggcaggagtctcacagINSaaaaaactcaggattttcct					rs150608839	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr1:248737510_248737511insA	ENST00000328782.2	-	1	569_570	c.548_549insT	c.(547-549)ttcfs	p.F183fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F183S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|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;0.0265)			GAGTCTCACAGAAAAAACTCAG	0.515																																					p.F183fs		Atlas-Indel	.											OR2T34,NS,haematopoietic_neoplasm,-1,2	OR2T34	72	2	1	Substitution - Missense(1)	stomach(1)	c.549_550insT						PASS	.																																			SO:0001589	frameshift_variant	127068	exon1			.	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.549dupT	1.37:g.248737516_248737516dupA	ENSP00000330904:p.Phe183fs	Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	230	39	0.169565	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Ins	INS	ENST00000328782.2	37	CCDS31120.1																																																																																			.	.	none		0.515	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		A	248737511	-	A	248737510	7	5	9	1	0	1	1	0	0	0	0	0	11025	933	33	0	411	0	OR2T34	1	248737510	Frame_Shift_Ins	INS	-	TCGA-FA-A86F-01A-11D-A382-10	1245446	248737510	513111	16	1742										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167055184	167055185	+	Stop_Codon_Ins	INS	-	-	T													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	atatcaaaaatgaagctctaINSttttttgctttccttgctgt							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr2:167055184_167055185insT	ENST00000409435.1	-	0	5963_5964				AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Stop_Codon_Ins|SCN9A_ENST00000409672.1_Stop_Codon_Ins|SCN9A_ENST00000375387.4_Stop_Codon_Ins			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGAAGCTCTATTTTTTGCTTT	0.327																																					p.X1978delinsI		Atlas-Indel	.											.	SCN9A	296	.	0			c.5932_5933insA						PASS	.																																			SO:0001567	stop_retained_variant	6335	exon27			.	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5965dupA	2.37:g.167055190_167055190dupT	ENSP00000386330:p.*1989Ileext*?	Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	243	22	0.090535	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Ins	INS	ENST00000409435.1	37	CCDS46441.1																																																																																			.	.	none		0.327	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055185	-	T	167055184	7	5	9	1	0	1	1	0	0	0	0	0	13925	462	16	0	5	0	SCN9A	2	167055184	Stop_Codon_Ins	INS	-	TCGA-FA-A86F-01A-11D-A382-10		167055184	76144189	17	1743										
GPC1	2817	hgsc.bcm.edu	37	chr2	241401695	241401695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agagctgtacacgcagaacgCgagggccttccgggacctgt	14	12	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr2:241401695C>T	ENST00000264039.2	+	3	661	c.413C>T	c.(412-414)gCg>gTg	p.A138V		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	138					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		ACGCAGAACGCGAGGGCCTTC	0.672																																					p.A138V		Atlas-SNP	.											.	GPC1	32	.	0			c.C413T						PASS	.						21	23	22					2																	241401695		2190	4296	6486	SO:0001583	missense	2817	exon3			AGAACGCGAGGGC	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.413C>T	2.37:g.241401695C>T	ENSP00000264039:p.Ala138Val	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	111	11	0.0990991	NM_002081	B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.09|12.09	1.832212|1.832212	0.32421|0.32421	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000264039;ENST00000426280|ENST00000427506;ENST00000425056	T;T|.	0.52057|.	0.68;0.68|.	3.1|3.1	1.2|1.2	0.21068|0.21068	.|.	1.004560|.	0.08007|.	N|.	0.989674|.	T|.	0.36331|.	0.0963|.	L|L	0.53617|0.53617	1.68|1.68	0.09310|0.09310	N|N	1|1	B|.	0.30193|.	0.272|.	B|.	0.39617|.	0.305|.	T|.	0.31641|.	-0.9936|.	10|.	0.52906|.	T|.	0.07|.	-13.7881|-13.7881	1.889|1.889	0.03243|0.03243	0.2067:0.4686:0.2019:0.1227|0.2067:0.4686:0.2019:0.1227	.|.	138|.	P35052|.	GPC1_HUMAN|.	V|X	138;88|95;134	ENSP00000264039:A138V;ENSP00000410251:A88V|.	ENSP00000264039:A138V|.	A|R	+|+	2|1	0|2	GPC1|GPC1	241050368|241050368	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.583000|0.583000	0.36354|0.36354	-0.002000|-0.002000	0.12924|0.12924	0.161000|0.161000	0.19458|0.19458	0.586000|0.586000	0.80456|0.80456	GCG|CGA	.	.	none		0.672	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		T	241401695	C	T	241401695	3	4	9	1	0	0	0	0	1	0	0	0	6597	768	27	1	423	1	GPC1	2	241401695	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	74346511	241401695	1797678	18	1744										
NKTR	4820	hgsc.bcm.edu	37	chr3	42674280	42674280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aaggaagcaagcagttcagaAgagccaaggaataaacatgc	11	7	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr3:42674280A>C	ENST00000232978.8	+	9	926	c.738A>C	c.(736-738)gaA>gaC	p.E246D	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	246					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCAGTTCAGAAGAGCCAAGGA	0.393																																					p.E246D		Atlas-SNP	.											.	NKTR	116	.	0			c.A738C						PASS	.						91	96	94					3																	42674280		2203	4300	6503	SO:0001583	missense	4820	exon9			TTCAGAAGAGCCA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.738A>C	3.37:g.42674280A>C	ENSP00000232978:p.Glu246Asp	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	127	18	0.141732	NM_005385		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317054	0.81469	.	.	ENSG00000114857	ENST00000232978	T	0.13196	2.61	5.83	-1.96	0.07525	.	0.387908	0.30142	N	0.010302	T	0.22166	0.0534	M	0.63428	1.95	0.80722	D	1	P;D	0.62365	0.935;0.991	B;P	0.53689	0.315;0.732	T	0.03818	-1.1001	10	0.62326	D	0.03	-10.0199	12.9061	0.58154	0.3415:0.0:0.6585:0.0	.	126;246	Q59EC3;P30414	.;NKTR_HUMAN	D	246	ENSP00000232978:E246D	ENSP00000232978:E246D	E	+	3	2	NKTR	42649284	1.000000	0.71417	0.990000	0.47175	0.899000	0.52679	0.525000	0.22956	-0.326000	0.08564	0.533000	0.62120	GAA	.	.	none		0.393	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		C	42674280	A	C	42674280	3	2	9	1	0	0	0	0	1	0	0	0	10448	69	3	5	768	5	NKTR	3	42674280	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10		42674280	155348150	19	1745										
PAK2	5062	hgsc.bcm.edu	37	chr3	196530013	196530013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tccaacacagtgaagcagaaAtatctgagctttactcctcc	6	12	1	3	rs73205842	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr3:196530013A>G	ENST00000327134.3	+	4	736	c.414A>G	c.(412-414)aaA>aaG	p.K138K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	138					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAAGCAGAAATATCTGAGCT	0.418																																					p.K138K		Atlas-SNP	.											PAK2_ENST00000327134,rectum,carcinoma,0,2	PAK2	113	2	0			c.A414G						scavenged	.						92	84	87					3																	196530013		2203	4300	6503	SO:0001819	synonymous_variant	5062	exon4			GCAGAAATATCTG	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.414A>G	3.37:g.196530013A>G		Somatic	56	2	0.0357143		WXS	Illumina HiSeq	Phase_I	56	6	0.107143	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																			A|0.970;G|0.030	0.030	strong		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196530013	A	G	196530013	2	3	9	1	0	0	0	0	0	0	0	1	11401	98	4	2		2	PAK2	3	196530013	Silent	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	153855733	196530013	1492417	20	1746										
DRD5	1816	hgsc.bcm.edu	37	chr4	9784542	9784542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aggagaccaaggttctcaagAccctgtcggtgatcatgggg	14	9	2	3	rs2227851		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:9784542A>C	ENST00000304374.2	+	1	1285	c.889A>C	c.(889-891)Acc>Ccc	p.T297P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTTCTCAAGACCCTGTCGGT	0.632																																					p.T297P		Atlas-SNP	.											DRD5,colon,carcinoma,0,1	DRD5	119	1	0			c.A889C						scavenged	.						54	51	52					4																	9784542		2202	4297	6499	SO:0001583	missense	1816	exon1			CTCAAGACCCTGT	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.889A>C	4.37:g.9784542A>C	ENSP00000306129:p.Thr297Pro	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	32	3	0.09375	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.788678	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.40225	1.04	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	H	0.99668	4.69	0.09310	P	0.999999880898	D	0.89917	1.0	D	0.97110	1.0	D	0.89804	0.3977	9	0.87932	D	0	.	13.5854	0.61928	1.0:0.0:0.0:0.0	rs2227851	297	P21918	DRD5_HUMAN	P	297	ENSP00000306129:T297P	ENSP00000306129:T297P	T	+	1	0	DRD5	9393640	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.711000	0.91396	1.990000	0.58119	0.377000	0.23210	ACC	A|0.989;C|0.011	0.011	weak		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			C	9784542	A	C	9784542	3	2	9	1	0	0	0	0	1	0	0	0	4760	275	10	5	891	5	DRD5	4	9784542	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10		9784542	181369734	21	1747										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79328899	79328899	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctgatgggaggacagctacCcccaccagcaccttcaccca	8	18	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:79328899C>G	ENST00000325942.6	+	31	4652	c.4212C>G	c.(4210-4212)acC>acG	p.T1404T	FRAS1_ENST00000264895.6_Silent_p.T1404T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1404					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						GGACAGCTACCCCCACCAGCA	0.597																																					p.T1404T		Atlas-SNP	.											.	FRAS1	779	.	0			c.C4212G						PASS	.						80	87	85					4																	79328899		2124	4233	6357	SO:0001819	synonymous_variant	80144	exon31			AGCTACCCCCACC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4212C>G	4.37:g.79328899C>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	98	8	0.0816327	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1																																																																																			.	.	none		0.597	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79328899	C	G	79328899	2	3	9	1	0	0	0	0	0	0	0	1	6042	610	22	4		4	FRAS1	4	79328899	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	69544357	79328899	111825377	22	1748										
DDIT4L	115265	hgsc.bcm.edu	37	chr4	101108876	101108876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gttccaatcagtgagtaaagTtttttcttaacaagtcgaaa	7	6	2	1	rs56763427|rs58706659	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:101108876T>C	ENST00000273990.2	-	3	754	c.540A>G	c.(538-540)aaA>aaG	p.K180K	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	180					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.K180fs*5(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTGAGTAAAGTTTTTTCTTAA	0.383																																					p.K180K		Atlas-SNP	.											DDIT4L,NS,carcinoma,-1,1	DDIT4L	33	1	1	Deletion - Frameshift(1)	pancreas(1)	c.A540G						scavenged	.						54	58	57					4																	101108876		2200	4294	6494	SO:0001819	synonymous_variant	115265	exon3			GTAAAGTTTTTTC	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.540A>G	4.37:g.101108876T>C		Somatic	354	166	0.468927		WXS	Illumina HiSeq	Phase_I	210	82	0.390476	NM_145244	B2R7C3	Silent	SNP	ENST00000273990.2	37	CCDS34036.1																																																																																			T|0.913;C|0.087	0.087	strong		0.383	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		C	101108876	T	C	101108876	2	2	9	1	0	0	0	0	0	0	0	1	4332	1722	60	2		2	DDIT4L	4	101108876	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	21779977	101108876	90045400	23	1749										
ELOVL6	79071	hgsc.bcm.edu	37	chr4	111119485	111119485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttgtaaagtcaacactgacaTgttcattggggctgatcttc	9	8	3	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:111119485T>G	ENST00000394607.3	-	2	170	c.7A>C	c.(7-9)Atg>Ctg	p.M3L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M3L|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	3					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AACACTGACATGTTCATTGGG	0.428																																					p.M3L		Atlas-SNP	.											.	ELOVL6	27	.	0			c.A7C						PASS	.						200	174	183					4																	111119485		2203	4300	6503	SO:0001583	missense	79071	exon2			CTGACATGTTCAT	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.7A>C	4.37:g.111119485T>G	ENSP00000378105:p.Met3Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	102	7	0.0686275	NM_001130721	Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274309	0.59649	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T	0.20200	2.09;2.09	5.68	5.68	0.88126	.	0.150731	0.64402	D	0.000016	T	0.14399	0.0348	N	0.19112	0.55	0.47511	D	0.999443	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	10	0.16420	T	0.52	-11.0653	14.9246	0.70866	0.0:0.0:0.0:1.0	.	3	Q9H5J4	ELOV6_HUMAN	L	3	ENSP00000378105:M3L;ENSP00000304736:M3L	ENSP00000304736:M3L	M	-	1	0	ELOVL6	111338934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.985000	0.76193	2.168000	0.68352	0.533000	0.62120	ATG	.	.	none		0.428	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		G	111119485	T	G	111119485	3	3	9	1	0	0	0	0	1	0	0	0	5078	1464	51	5	806	5	ELOVL6	4	111119485	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	10010609	111119485	80034791	24	1750										
TRAM1L1	133022	hgsc.bcm.edu	37	chr4	118005633	118005633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	atgttacgtaggcttggatcGtgcaactggacgacagaaca	12	8	0	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:118005633G>A	ENST00000310754.4	-	1	1103	c.917C>T	c.(916-918)aCg>aTg	p.T306M		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	306	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GGCTTGGATCGTGCAACTGGA	0.453																																					p.T306M		Atlas-SNP	.											.	TRAM1L1	55	.	0			c.C917T						PASS	.						129	120	123					4																	118005633		2203	4300	6503	SO:0001583	missense	133022	exon1			TGGATCGTGCAAC	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.917C>T	4.37:g.118005633G>A	ENSP00000309402:p.Thr306Met	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	179	18	0.100559	NM_152402	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645766	0.14451	.	.	ENSG00000174599	ENST00000310754	D	0.85258	-1.96	3.74	2.87	0.33458	TRAM/LAG1/CLN8 homology domain (3);	0.890367	0.09839	N	0.749176	T	0.79936	0.4532	L	0.29908	0.895	0.09310	N	1	P	0.48089	0.905	P	0.45946	0.498	T	0.67837	-0.5567	10	0.45353	T	0.12	-6.284	9.0284	0.36243	0.0:0.2389:0.7611:0.0	.	306	Q8N609	TR1L1_HUMAN	M	306	ENSP00000309402:T306M	ENSP00000309402:T306M	T	-	2	0	TRAM1L1	118225081	0.009000	0.17119	0.428000	0.26697	0.038000	0.13279	1.409000	0.34680	1.113000	0.41760	0.650000	0.86243	ACG	.	.	none		0.453	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		A	118005633	G	A	118005633	3	1	9	1	0	0	0	0	1	0	0	0	16449	1145	40	1	196	1	TRAM1L1	4	118005633	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	6886148	118005633	73148643	25	1751										
GYPA	2994	hgsc.bcm.edu	37	chr4	145041720	145041720	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	7	10	2	1	rs7682260	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:145041720A>G	ENST00000283126.7	-	1	93				GYPA_ENST00000360771.4_Missense_Mutation_p.L20S|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.L20S|GYPA_ENST00000512064.1_Missense_Mutation_p.L20S|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.L20S|GYPA_ENST00000535709.1_5'UTR			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353													G|||	1428	0.285144	0.1944	0.3545	5008	,	,		12360	0.3125		0.2813	False		,,,				2504	0.3344				p.L20S		Atlas-SNP	.											GYPA,NS,carcinoma,0,1	GYPA	27	1	0			c.T59C						scavenged	.	G	SER/LEU	737,3513		243,251,1631	57	30	39		59	-3.4	0	4	dbSNP_116	39	1997,6329		706,585,2872	no	missense	GYPA	NM_002099.6	145	949,836,4503	GG,GA,AA		23.9851,17.3412,21.7398	benign	20/151	145041720	2734,9842	2125	4163	6288	SO:0001627	intron_variant	2993	exon2			GTACTTAATGCTG		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+20031T>C	4.37:g.145041720A>G		Somatic	192	35	0.182292		WXS	Illumina HiSeq	Phase_I	125	29	0.232	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	G	2.787	-0.252207	0.05829	0.173412	0.239851	ENSG00000170180	ENST00000360771;ENST00000512064;ENST00000504786;ENST00000503627;ENST00000394119	T;T;T;T	0.04809	4.59;4.61;4.54;3.55	1.71	-3.42	0.04825	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46555	-0.9183	7	0.52906	T	0.07	.	0.8306	0.01129	0.3297:0.3169:0.194:0.1595	rs7682260;rs17845377;rs17858231	20;20;20	E9PD10;E7EQF3;Q16336	.;.;.	S	20	ENSP00000354003:L20S;ENSP00000426130:L20S;ENSP00000425549:L20S;ENSP00000421243:L20S	ENSP00000354003:L20S	L	-	2	0	GYPA	145261170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-2.458000	0.00538	-2.395000	0.00226	TTA	A|0.519;G|0.481	0.481	strong		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		G	145041720	A	G	145041720	1	3	9	0	1	0	0	0	0	0	0	0	6908	372	13	2		2	GYPA	4	145041720	Intron	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	27036087	145041720	46112556	26	1752										
FAT1	2195	hgsc.bcm.edu	37	chr4	187539303	187539303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aacaatgaatgcctcatatgGactagattcaaagaccgggc	9	9	2	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:187539303G>T	ENST00000441802.2	-	10	8646	c.8437C>A	c.(8437-8439)Cca>Aca	p.P2813T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2813	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTCATATGGACTAGATTCA	0.463										HNSCC(5;0.00058)																											p.P2813T	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.C8437A						PASS	.						125	120	122					4																	187539303		1879	4121	6000	SO:0001583	missense	2195	exon10			CATATGGACTAGA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8437C>A	4.37:g.187539303G>T	ENSP00000406229:p.Pro2813Thr	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	103	14	0.135922	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897051	0.33535	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.37411	1.2	5.0	5.0	0.66597	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	N	0.16862	0.45	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.16512	-1.0400	10	0.17832	T	0.49	.	18.8402	0.92180	0.0:0.0:1.0:0.0	.	2813	Q14517	FAT1_HUMAN	T	2813;2815	ENSP00000406229:P2813T	ENSP00000260147:P2815T	P	-	1	0	FAT1	187776297	1.000000	0.71417	0.268000	0.24571	0.914000	0.54420	7.674000	0.83992	2.757000	0.94681	0.655000	0.94253	CCA	.	.	none		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187539303	G	T	187539303	3	4	9	1	0	0	0	0	1	0	0	0	5689	1174	41	4	5401	4	FAT1	4	187539303	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	42497583	187539303	3614973	27	1753										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ccatagccattgaaatggatAagggaacctatatacatgca	8	8	0	1	rs112612436		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																					p.K66E		Atlas-SNP	.											FRG1,arm,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.A196G						scavenged	.						101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483	exon3			ATGGATAAGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic	133	12	0.0902256		WXS	Illumina HiSeq	Phase_I	80	13	0.1625	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG	.	.	weak		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	9	1	0	0	0	0	1	0	0	0	6046	363	13	2	206	2	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	3334076	190873379	280897	28	1754										
TPPP	11076	hgsc.bcm.edu	37	chr5	678087	678087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctccgattccagcgacagcCtcttggctgcccggtccttc	9	18	1	0	rs570878136	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr5:678087C>T	ENST00000360578.5	-	2	210	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	30	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R30K(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGCGACAGCCTCTTGGCTGC	0.677													C|||	15	0.00299521	0.0061	0.0	5008	,	,		16462	0.0069		0.0	False		,,,				2504	0.0				p.R30K		Atlas-SNP	.											TPPP,NS,carcinoma,0,1	TPPP	24	1	1	Substitution - Missense(1)	prostate(1)	c.G89A						scavenged	.						14	17	16					5																	678087		2199	4295	6494	SO:0001583	missense	11076	exon2			GACAGCCTCTTGG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.89G>A	5.37:g.678087C>T	ENSP00000353785:p.Arg30Lys	Somatic	265	5	0.0188679		WXS	Illumina HiSeq	Phase_I	257	8	0.0311284	NM_007030		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605282	0.46423	.	.	ENSG00000171368	ENST00000360578	T	0.45276	0.9	5.23	5.23	0.72850	.	0.149935	0.44902	D	0.000407	T	0.29588	0.0738	L	0.29908	0.895	0.44635	D	0.997618	B	0.15141	0.012	B	0.13407	0.009	T	0.11867	-1.0570	10	0.05436	T	0.98	-54.1656	16.5545	0.84482	0.0:1.0:0.0:0.0	.	30	O94811	TPPP_HUMAN	K	30	ENSP00000353785:R30K	ENSP00000353785:R30K	R	-	2	0	TPPP	731087	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	4.081000	0.57627	2.437000	0.82529	0.491000	0.48974	AGG	.	.	none		0.677	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678087	C	T	678087	3	4	9	1	0	0	0	0	1	0	0	0	16410	681	24	2	582	2	TPPP	5	678087	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10		678087	180237173	29	1755										
LCP2	3937	hgsc.bcm.edu	37	chr5	169695446	169695446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gccatcggtctctgggggggCacaggaggctgctggggggt	21	9	1	0	rs2292254	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr5:169695446C>T	ENST00000046794.5	-	8	1179	c.564G>A	c.(562-564)gtG>gtA	p.V188V	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	188					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCTGGGGGGGCACAGGAGGCT	0.627											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2279	0.455072	0.2927	0.4856	5008	,	,		6718	0.6538		0.4245	False		,,,				2504	0.4796				p.V188V		Atlas-SNP	.											LCP2_ENST00000046794,NS,carcinoma,0,2	LCP2	133	2	0			c.G564A						scavenged	.	C		775,2241		158,459,891	2	3	2		564	3.3	0.8	5	dbSNP_100	2	2547,4561		602,1343,1609	no	coding-synonymous	LCP2	NM_005565.3		760,1802,2500	TT,TC,CC		35.8329,25.6963,32.8131		188/534	169695446	3322,6802	1508	3554	5062	SO:0001819	synonymous_variant	3937	exon8			GGGGGGCACAGGA		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.564G>A	5.37:g.169695446C>T		Somatic	8	1	0.125	1879	WXS	Illumina HiSeq	Phase_I	9	7	0.777778	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																			C|0.530;T|0.470	0.470	strong		0.627	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169695446	C	T	169695446	2	4	9	1	0	0	0	0	0	0	0	1	8692	697	25	2		2	LCP2	5	169695446	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	169017359	169695446	11219814	30	1756										
IRF4	3662	hgsc.bcm.edu	37	chr6	394899	394899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctggaagacgcgcctgcggTgcgctttgaacaagagcaat	13	11	0	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:394899T>C	ENST00000380956.4	+	3	421	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	99					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCGCCTGCGGTGCGCTTTGAA	0.542			T	IGH@	MM																																p.C99R		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	IRF4_ENST00000380956,NS,carcinoma,-1,1	IRF4	65	1	0			c.T295C						PASS	.						89	94	92					6																	394899		2203	4300	6503	SO:0001583	missense	3662	exon3			CTGCGGTGCGCTT	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.295T>C	6.37:g.394899T>C	ENSP00000370343:p.Cys99Arg	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	8	0.173913	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011366	0.54468	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.99418	-5.87	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97583	1.0112	10	0.87932	D	0	-17.4096	16.1535	0.81640	0.0:0.0:0.0:1.0	.	99;99;99	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	R	99;129	ENSP00000370343:C99R	ENSP00000370343:C99R	C	+	1	0	IRF4	339899	1.000000	0.71417	0.108000	0.21378	0.035000	0.12851	7.586000	0.82596	2.217000	0.71921	0.528000	0.53228	TGC	.	.	none		0.542	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			C	394899	T	C	394899	3	2	9	1	0	0	0	0	1	0	0	0	7832	1696	59	2	301	2	IRF4	6	394899	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10		394899	170720168	31	1757										
HIST1H2BD	3017	hgsc.bcm.edu	37	chr6	26158776	26158776	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ccaagtacaccagttccaagTaactttgccaagtaagcatc	6	12	0	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:26158776T>C	ENST00000289316.2	+	1	403	c.379T>C	c.(379-381)Taa>Caa	p.*127Q	HIST1H2BD_ENST00000377777.4_Nonstop_Mutation_p.*127Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	0					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CAGTTCCAAGTAACTTTGCCA	0.512																																					p.X127Q		Atlas-SNP	.											.	HIST1H2BD	45	.	0			c.T379C						PASS	.						61	66	64					6																	26158776		2203	4300	6503	SO:0001578	stop_lost	3017	exon1			TCCAAGTAACTTT	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.379T>C	6.37:g.26158776T>C	ENSP00000289316:p.*127Glnext*13	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	105	14	0.133333	NM_021063		Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	8.266	0.812203	0.16537	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	.	.	.	5.1	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6541	0.17633	0.155:0.0888:0.0:0.7563	.	.	.	.	Q	127	.	.	X	+	1	0	HIST1H2BD	26266755	1.000000	0.71417	0.599000	0.28851	0.305000	0.27757	4.678000	0.61641	0.988000	0.38734	0.529000	0.55759	TAA	.	.	none		0.512	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		C	26158776	T	C	26158776	4	2	9	1	0	0	0	0	0	0	0	0	7143	1651	57	2	381	2	HIST1H2BD	6	26158776	Nonstop_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	25763877	26158776	144956291	32	1758										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34825160	34825160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctacactcctttcctgcagtCggaaacttcacaacctccct	4	17	1	0	rs201864059		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:34825160C>T	ENST00000192788.5	+	12	1657	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R496W	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	496							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCCTGCAGTCGGAAACTTCA	0.433																																					p.R496W		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.C1486T						PASS	.						124	118	120					6																	34825160		1875	4119	5994	SO:0001583	missense	54887	exon12			TGCAGTCGGAAAC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1486C>T	6.37:g.34825160C>T	ENSP00000192788:p.Arg496Trp	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	105	9	0.0857143	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014324	0.75161	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.12879	2.64;2.64	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.00196	-1.1931	10	0.87932	D	0	-22.6533	11.8255	0.52265	0.2922:0.7078:0.0:0.0	.	496	Q6BDS2	URFB1_HUMAN	W	496	ENSP00000192788:R496W;ENSP00000400628:R496W	ENSP00000192788:R496W	R	+	1	2	UHRF1BP1	34933138	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.939000	0.48995	2.758000	0.94735	0.563000	0.77884	CGG	.	.	weak		0.433	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34825160	C	T	34825160	3	4	9	1	0	0	0	0	1	0	0	0	16965	875	31	1	1532	1	UHRF1BP1	6	34825160	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	8666384	34825160	136289907	33	1759										
RIMS1	22999	hgsc.bcm.edu	37	chr6	73023228	73023228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gtataacatacataaagatcAgtacagaagctgtgataacg	8	6	1	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:73023228A>G	ENST00000521978.1	+	28	3983	c.3983A>G	c.(3982-3984)cAg>cGg	p.Q1328R	RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.Q134R|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.Q648R|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.Q1151R|RIMS1_ENST00000264839.7_Missense_Mutation_p.Q1177R|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.Q1120R|RIMS1_ENST00000517960.1_Missense_Mutation_p.Q1120R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1328					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATAAAGATCAGTACAGAAGC	0.403																																					p.Q1328R		Atlas-SNP	.											.	RIMS1	278	.	0			c.A3983G						PASS	.						57	60	59					6																	73023228		1962	4152	6114	SO:0001583	missense	22999	exon28			AAGATCAGTACAG	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3983A>G	6.37:g.73023228A>G	ENSP00000428417:p.Gln1328Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	78	19	0.24359	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.95|11.95	1.792225|1.792225	0.31685|0.31685	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000522211	T;T;T;T;T;T;T;T;T|.	0.18338|.	2.55;2.68;2.6;2.68;2.58;2.67;2.55;2.28;2.22|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.59266|0.59266	0.2181|0.2181	L|L	0.50333|0.50333	1.59|1.59	0.47308|0.47308	D|D	0.999389|0.999389	B;P;P;B;D;B;P|.	0.56035|.	0.017;0.949;0.885;0.003;0.974;0.016;0.936|.	B;D;P;B;P;B;P|.	0.64042|.	0.016;0.921;0.549;0.003;0.521;0.01;0.885|.	T|T	0.58869|0.58869	-0.7560|-0.7560	10|5	0.07990|.	T|.	0.79|.	-18.4387|-18.4387	16.0343|16.0343	0.80612|0.80612	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	134;1177;648;1120;404;1151;1328|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	R|G	1151;1177;1151;1120;1177;1120;1328;648;493;376;134|246	ENSP00000430101:Q1151R;ENSP00000275037:Q1120R;ENSP00000264839:Q1177R;ENSP00000429959:Q1120R;ENSP00000428417:Q1328R;ENSP00000385649:Q648R;ENSP00000389503:Q493R;ENSP00000359448:Q376R;ENSP00000439730:Q134R|.	ENSP00000264839:Q1177R|.	Q|S	+|+	2|1	0|0	RIMS1|RIMS1	73079949|73079949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.914000|6.914000	0.75764|0.75764	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	CAG|AGT	.	.	none		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73023228	A	G	73023228	3	3	9	1	0	0	0	0	1	0	0	0	13367	188	7	3	4256	3	RIMS1	6	73023228	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	38198068	73023228	98091839	34	1760										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138198239	138198240	+	Frame_Shift_Del	DEL	AG	AG	-													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gagctgttccacttgttaacAgagaccggggaagatttgaa							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:138198239_138198240delAG	ENST00000237289.4	+	6	898_899	c.832_833delAG	c.(832-834)agafs	p.R278fs	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	278	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACTTGTTAACAGAGACCGGGGA	0.342			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.277_278del	GBM(130;153 1739 22295 28918 47987)	Atlas-Indel	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	c.831_832del						PASS	.																																			SO:0001589	frameshift_variant	7128	exon6			.	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.832_833delAG	6.37:g.138198241_138198242delAG	ENSP00000237289:p.Arg278fs	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	165	12	0.0727273	NM_001270508	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	ENST00000237289.4	37	CCDS5187.1																																																																																			.	.	none		0.342	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			-	138198240	AG	-	138198239	7	5	9	1	0	1	0	1	0	0	0	0	16271	180	7	0	850	0	TNFAIP3	6	138198239	Frame_Shift_Del	DEL	AG	TCGA-FA-A86F-01A-11D-A382-10	65175011	138198239	32916828	35	1761										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152768599	152768599	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agtaaatgctgtacctctgaCagcagcgtcacaagagcctt	9	11	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:152768599C>G	ENST00000367255.5	-	29	4264	c.3663G>C	c.(3661-3663)ctG>ctC	p.L1221L	SYNE1_ENST00000413186.2_Silent_p.L1221L|SYNE1_ENST00000448038.1_Silent_p.L1228L|SYNE1_ENST00000367248.3_Silent_p.L1211L|SYNE1_ENST00000341594.5_Silent_p.L1287L|SYNE1_ENST00000265368.4_Silent_p.L1221L|SYNE1_ENST00000423061.1_Silent_p.L1228L|SYNE1_ENST00000367253.4_Silent_p.L1221L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1221					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTACCTCTGACAGCAGCGTCA	0.413										HNSCC(10;0.0054)																											p.L1228L		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G3684C						PASS	.						55	55	55					6																	152768599		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon29			CTCTGACAGCAGC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3663G>C	6.37:g.152768599C>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	69	7	0.101449	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			.	.	none		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152768599	C	G	152768599	2	3	9	1	0	0	0	0	0	0	0	1	15442	465	17	4		4	SYNE1	6	152768599	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	14570360	152768599	18346468	36	1762										
KIF25	3834	hgsc.bcm.edu	37	chr6	168443315	168443315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gccttgcggccctggcaggcGtcctgggggctttgttggag	18	11	0	0	rs146787013	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr6:168443315G>A	ENST00000443060.2	+	9	1295	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.V302I			Q9UIL4	KIF25_HUMAN	kinesin family member 25	302	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCTGGCAGGCGTCCTGGGGGC	0.647													G|||	46	0.0091853	0.0318	0.0058	5008	,	,		16877	0.0		0.0	False		,,,				2504	0.0				p.V302I		Atlas-SNP	.											KIF25,NS,carcinoma,-2,1	KIF25	75	1	0			c.G904A						PASS	.	G	,ILE/VAL	88,4318	73.6+/-111.7	0,88,2115	98	95	96		,904	3.2	0.3	6	dbSNP_134	96	0,8600		0,0,4300	yes	intron,missense	KIF25	NM_005355.3,NM_030615.2	,29	0,88,6415	AA,AG,GG		0.0,1.9973,0.6766	,probably-damaging	,302/385	168443315	88,12918	2203	4300	6503	SO:0001583	missense	3834	exon8			GCAGGCGTCCTGG	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.904G>A	6.37:g.168443315G>A	ENSP00000388878:p.Val302Ile	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	62	12	0.193548	NM_030615	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	14	0.00641025641025641	11	0.022357723577235773	3	0.008287292817679558	0	0.0	0	0.0	G	14.81	2.647615	0.47258	0.019973	0.0	ENSG00000125337	ENST00000443060;ENST00000354419	T;T	0.79454	-1.27;-1.27	4.13	3.24	0.37175	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000002	D	0.84433	0.5471	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86005	0.1497	10	0.87932	D	0	-20.8353	9.7087	0.40231	0.1042:0.0:0.8958:0.0	.	302	Q9UIL4	KIF25_HUMAN	I	302	ENSP00000388878:V302I;ENSP00000346401:V302I	ENSP00000346401:V302I	V	+	1	0	KIF25	168186164	1.000000	0.71417	0.297000	0.24988	0.082000	0.17680	4.083000	0.57643	0.839000	0.34971	0.543000	0.68304	GTC	G|0.993;A|0.007	0.007	strong		0.647	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168443315	G	A	168443315	3	1	9	1	0	0	0	0	1	0	0	0	8293	1145	40	1	930	1	KIF25	6	168443315	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	15674716	168443315	2671752	37	1763										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20683092	20683092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgcttgtttcagtgacattgAcaaaatcagtgatggtattg	10	5	2	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:20683092A>G	ENST00000404938.2	+	7	1167	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	172	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGTGACATTGACAAAATCAGT	0.368																																					p.D172G		Atlas-SNP	.											.	ABCB5	357	.	0			c.A515G						PASS	.						224	197	205					7																	20683092		1568	3582	5150	SO:0001583	missense	340273	exon7			ACATTGACAAAAT	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.515A>G	7.37:g.20683092A>G	ENSP00000384881:p.Asp172Gly	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	149	17	0.114094	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152310	0.21371	.	.	ENSG00000004846	ENST00000404938	D	0.90261	-2.64	3.85	-0.101	0.13618	.	.	.	.	.	D	0.82472	0.5044	L	0.41492	1.28	0.80722	D	1	B	0.18013	0.025	B	0.23275	0.045	T	0.67480	-0.5660	9	0.25106	T	0.35	.	4.5733	0.12221	0.6388:0.1667:0.1946:0.0	.	172	A7BKA4	.	G	172	ENSP00000384881:D172G	ENSP00000384881:D172G	D	+	2	0	ABCB5	20649617	1.000000	0.71417	0.999000	0.59377	0.371000	0.29859	2.424000	0.44714	-0.012000	0.14223	0.460000	0.39030	GAC	.	.	none		0.368	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20683092	A	G	20683092	3	3	9	1	0	0	0	0	1	0	0	0	44	275	10	2	537	2	ABCB5	7	20683092	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10		20683092	138455571	38	1764										
DDC	1644	hgsc.bcm.edu	37	chr7	50531011	50531011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcacatgggcagattccaccGtgcgagaacagatggcaaag	13	10	0	3	rs147562019		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:50531011G>A	ENST00000444124.2	-	14	1561	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	DDC_ENST00000426377.1_Missense_Mutation_p.T376M|DDC_ENST00000357936.5_Missense_Mutation_p.T454M|DDC_ENST00000431062.1_Missense_Mutation_p.T361M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	454					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGATTCCACCGTGCGAGAACA	0.547																																					p.T454M		Atlas-SNP	.											.	DDC	100	.	0			c.C1361T						PASS	.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405		0,1,2202	120	104	110		1361,1361,1247,1217,1127,1082	2.6	0	7	dbSNP_134	110	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	DDC	NM_000790.3,NM_001082971.1,NM_001242886.1,NM_001242887.1,NM_001242888.1,NM_001242889.1	81,81,81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	454/481,454/481,416/443,406/433,376/403,361/388	50531011	1,13005	2203	4300	6503	SO:0001583	missense	1644	exon14			TCCACCGTGCGAG		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1361C>T	7.37:g.50531011G>A	ENSP00000403644:p.Thr454Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	165	14	0.0848485	NM_001082971	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.557|7.557	0.663813|0.663813	0.14710|0.14710	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	.|T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16	5.44|5.44	2.61|2.61	0.31194|0.31194	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.388045	.|0.31102	.|N	.|0.008259	T|T	0.35451|0.35451	0.0932|0.0932	M|M	0.73962|0.73962	2.25|2.25	0.27720|0.27720	N|N	0.945142|0.945142	.|B;B	.|0.21147	.|0.052;0.052	.|B;B	.|0.12156	.|0.007;0.007	T|T	0.33548|0.33548	-0.9864|-0.9864	5|10	.|0.59425	.|D	.|0.04	-7.455|-7.455	7.8343|7.8343	0.29362|0.29362	0.1397:0.0:0.728:0.1323|0.1397:0.0:0.728:0.1323	.|.	.|454;454	.|Q53Y41;P20711	.|.;DDC_HUMAN	W|M	335|454;361;376;454	.|ENSP00000350616:T454M;ENSP00000399184:T361M;ENSP00000395069:T376M;ENSP00000403644:T454M	.|ENSP00000350616:T454M	R|T	-|-	1|2	2|0	DDC|DDC	50498505|50498505	0.021000|0.021000	0.18746|0.18746	0.002000|0.002000	0.10522|0.10522	0.066000|0.066000	0.16364|0.16364	0.704000|0.704000	0.25661|0.25661	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	CGG|ACG	G|1.000;A|0.000	0.000	weak		0.547	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50531011	G	A	50531011	3	1	9	1	0	0	0	0	1	0	0	0	4325	1145	40	1	85	1	DDC	7	50531011	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	29847919	50531011	108607652	39	1765										
CD36	948	hgsc.bcm.edu	37	chr7	80285936	80285936	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gtttacagacagttttggatCtttgatgtgcaaaatccaca	8	7	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:80285936C>A	ENST00000435819.1	+	7	885	c.201C>A	c.(199-201)atC>atA	p.I67I	CD36_ENST00000309881.7_Silent_p.I67I|CD36_ENST00000544133.1_Silent_p.I67I|CD36_ENST00000538969.1_Silent_p.I67I|CD36_ENST00000394788.3_Silent_p.I67I|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000447544.2_Silent_p.I67I|CD36_ENST00000534394.1_5'UTR|CD36_ENST00000432207.1_Silent_p.I67I|CD36_ENST00000433696.2_Silent_p.I67I			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	67					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGTTTTGGATCTTTGATGTGC	0.378																																					p.I67I		Atlas-SNP	.											.	CD36	185	.	0			c.C201A						PASS	.						92	88	90					7																	80285936		2203	4300	6503	SO:0001819	synonymous_variant	948	exon2			TTGGATCTTTGAT	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.201C>A	7.37:g.80285936C>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	126	22	0.174603	NM_001127444	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	CCDS34673.1																																																																																			.	.	none		0.378	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		A	80285936	C	A	80285936	2	1	9	1	0	0	0	0	0	0	0	1	3007	903	32	4		4	CD36	7	80285936	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	29754925	80285936	78852727	40	1766										
MUC17	140453	hgsc.bcm.edu	37	chr7	100681303	100681303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	actgaagcccgttcatctccTacaacttctgaaggtaccag	7	13	3	2	rs143516283		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:100681303T>C	ENST00000306151.4	+	3	6670	c.6606T>C	c.(6604-6606)ccT>ccC	p.P2202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2202	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)					GTTCATCTCCTACAACTTCTG	0.507																																					p.P2202P		Atlas-SNP	.											MUC17,rectum,carcinoma,0,1	MUC17	804	1	0			c.T6606C						scavenged	.						311	311	311					7																	100681303		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			ATCTCCTACAACT	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.6606T>C	7.37:g.100681303T>C		Somatic	88	6	0.0681818		WXS	Illumina HiSeq	Phase_I	60	6	0.1	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.	.	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681303	T	C	100681303	2	2	9	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100681303	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	20395367	100681303	58457360	41	1767										
LRRC4	64101	hgsc.bcm.edu	37	chr7	127669744	127669744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tggaattggtgggtatatacTctcgaagccaccaggctagc	12	9	1	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:127669744T>C	ENST00000249363.3	-	2	1207	c.950A>G	c.(949-951)gAg>gGg	p.E317G	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	317	LRRCT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTATATACTCTCGAAGCCA	0.572																																					p.E317G		Atlas-SNP	.											.	LRRC4	72	.	0			c.A950G						PASS	.						44	38	40					7																	127669744		2203	4300	6503	SO:0001583	missense	64101	exon2			ATATACTCTCGAA	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.950A>G	7.37:g.127669744T>C	ENSP00000249363:p.Glu317Gly	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	110	17	0.154545	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016570	0.35606	.	.	ENSG00000128594	ENST00000249363	T	0.02656	4.21	4.46	4.46	0.54185	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.02767	0.0083	L	0.45137	1.4	0.80722	D	1	P	0.40515	0.719	B	0.29524	0.103	T	0.58567	-0.7614	10	0.39692	T	0.17	.	11.7482	0.51832	0.0:0.0:0.0:1.0	.	317	Q9HBW1	LRRC4_HUMAN	G	317	ENSP00000249363:E317G	ENSP00000249363:E317G	E	-	2	0	LRRC4	127456980	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.854000	0.86942	1.858000	0.53909	0.533000	0.62120	GAG	.	.	none		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		C	127669744	T	C	127669744	3	2	9	1	0	0	0	0	1	0	0	0	8997	1551	54	3	1015	3	LRRC4	7	127669744	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	26988441	127669744	31468919	42	1768										
XRCC2	7516	hgsc.bcm.edu	37	chr7	152346254	152346254	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	caggcagtatttgattatttCttcagagctttgggatagtc	10	6	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:152346254C>A	ENST00000359321.1	-	3	401	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	106					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTGATTATTTCTTCAGAGCTT	0.378								Homologous recombination																													p.E106X		Atlas-SNP	.											.	XRCC2	30	.	0			c.G316T						PASS	.						81	83	82					7																	152346254		2203	4300	6503	SO:0001587	stop_gained	7516	exon3			TTATTTCTTCAGA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.316G>T	7.37:g.152346254C>A	ENSP00000352271:p.Glu106*	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	35	5	0.142857	NM_005431	B2R925	Nonsense_Mutation	SNP	ENST00000359321.1	37	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911472	0.52439	.	.	ENSG00000196584	ENST00000359321	.	.	.	5.11	5.11	0.69529	.	0.363029	0.29522	N	0.011904	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.1414	17.5401	0.87845	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000352271:E106X	E	-	1	0	XRCC2	151977187	1.000000	0.71417	0.763000	0.31416	0.118000	0.20060	4.693000	0.61753	2.367000	0.80283	0.591000	0.81541	GAA	.	.	none		0.378	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		A	152346254	C	A	152346254	4	1	9	1	0	0	0	0	0	1	0	0	17450	922	32	4	530	4	XRCC2	7	152346254	Nonsense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	24676510	152346254	6792409	43	1769										
VIPR2	7434	hgsc.bcm.edu	37	chr7	158935181	158935181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctcagaagctctgcacatttTgtttcttcctcctgtatttc	5	12	3	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr7:158935181T>C	ENST00000262178.2	-	2	293	c.108A>G	c.(106-108)acA>acG	p.T36T	VIPR2_ENST00000421760.2_Silent_p.T36T|VIPR2_ENST00000402066.1_Silent_p.T177T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	36					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGCACATTTTGTTTCTTCCT	0.423																																					p.T36T	Pancreas(154;1876 1931 2329 17914 20079)	Atlas-SNP	.											.	VIPR2	53	.	0			c.A108G						PASS	.						217	202	207					7																	158935181		2203	4298	6501	SO:0001819	synonymous_variant	7434	exon2			ACATTTTGTTTCT	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.108A>G	7.37:g.158935181T>C		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	190	21	0.110526	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671893	0.47781	.	.	ENSG00000106018	ENST00000418475	.	.	.	5.09	-3.04	0.05412	.	.	.	.	.	T	0.49012	0.1532	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	6.3447	0.21343	0.0:0.1642:0.4153:0.4205	.	.	.	.	R	31	.	.	Q	-	2	0	VIPR2	158627942	0.850000	0.29656	0.923000	0.36655	0.980000	0.70556	-0.238000	0.08977	-0.256000	0.09473	0.482000	0.46254	CAA	.	.	none		0.423	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		C	158935181	T	C	158935181	2	2	9	1	0	0	0	0	0	0	0	1	17167	1799	63	2		2	VIPR2	7	158935181	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	6588927	158935181	203482	44	1770										
BMP1	649	hgsc.bcm.edu	37	chr8	22052356	22052356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctgatgacatcaagagcacGtccagccgcctctggctcaa	9	15	3	3	rs11552824		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:22052356G>A	ENST00000306385.5	+	12	2233	c.1563G>A	c.(1561-1563)acG>acA	p.T521T	BMP1_ENST00000397814.3_Silent_p.T521T|BMP1_ENST00000397816.3_Silent_p.T521T|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.T521T	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	521	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCAAGAGCACGTCCAGCCGCC	0.567																																					p.T521T		Atlas-SNP	.											.	BMP1	131	.	0			c.G1563A						PASS	.						84	83	83					8																	22052356		2203	4300	6503	SO:0001819	synonymous_variant	649	exon12			GAGCACGTCCAGC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1563G>A	8.37:g.22052356G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	70	10	0.142857	NM_001199	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																			.	.	alt		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22052356	G	A	22052356	2	1	9	1	0	0	0	0	0	0	0	1	1456	1132	40	1		1	BMP1	8	22052356	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		22052356	124311666	45	1771										
XKR4	114786	hgsc.bcm.edu	37	chr8	56270333	56270333	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aatggtatatgagtatgcggAtgtgagtatgctgcatttgc	13	4	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:56270333A>C	ENST00000327381.6	+	2	1002	c.902A>C	c.(901-903)gAt>gCt	p.D301A		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	301						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAGTATGCGGATGTGAGTATG	0.458																																					p.D301A		Atlas-SNP	.											XKR4,NS,carcinoma,+1,1	XKR4	104	1	0			c.A902C						scavenged	.						180	160	167					8																	56270333		2203	4300	6503	SO:0001583	missense	114786	exon2			ATGCGGATGTGAG	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.902A>C	8.37:g.56270333A>C	ENSP00000328326:p.Asp301Ala	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	134	4	0.0298507	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829401	0.71258	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.76060	-0.99	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87718	0.2571	10	0.54805	T	0.06	-20.1083	16.4447	0.83919	1.0:0.0:0.0:0.0	.	301	Q5GH76	XKR4_HUMAN	A	301	ENSP00000328326:D301A	ENSP00000328326:D301A	D	+	2	0	XKR4	56432887	1.000000	0.71417	0.919000	0.36401	0.276000	0.26787	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	GAT	.	.	none		0.458	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		C	56270333	A	C	56270333	3	2	9	1	0	0	0	0	1	0	0	0	17430	333	12	5	908	5	XKR4	8	56270333	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	34217977	56270333	90093689	46	1772										
MYBL1	4603	hgsc.bcm.edu	37	chr8	67492515	67492515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tccatactgtaaaactcactAgtgtgctcgtcaaggctatt	7	10	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:67492515A>G	ENST00000522677.3	-	9	1364	c.954T>C	c.(952-954)acT>acC	p.T318T	MYBL1_ENST00000524176.2_Silent_p.T318T|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	318	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AAAACTCACTAGTGTGCTCGT	0.438																																					p.T318T		Atlas-SNP	.											.	MYBL1	73	.	0			c.T954C						PASS	.						72	71	71					8																	67492515		1917	4134	6051	SO:0001819	synonymous_variant	4603	exon9			CTCACTAGTGTGC	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.954T>C	8.37:g.67492515A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	87	6	0.0689655	NM_001080416	E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	CCDS47867.1																																																																																			.	.	none		0.438	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		G	67492515	A	G	67492515	2	3	9	1	0	0	0	0	0	0	0	1	10009	407	15	3		3	MYBL1	8	67492515	Silent	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	11222182	67492515	78871507	47	1773										
KCNB2	9312	hgsc.bcm.edu	37	chr8	73848718	73848718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcatcattttggtgggccacCatcaccatgaccactgttgg	10	12	2	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:73848718C>T	ENST00000523207.1	+	3	1716	c.1128C>T	c.(1126-1128)acC>acT	p.T376T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	376					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGTGGGCCACCATCACCATGA	0.448																																					p.T376T		Atlas-SNP	.											KCNB2,right_upper_lobe,carcinoma,0,1	KCNB2	228	1	0			c.C1128T						scavenged	.						107	106	106					8																	73848718		2203	4300	6503	SO:0001819	synonymous_variant	9312	exon3			GGCCACCATCACC	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1128C>T	8.37:g.73848718C>T		Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	174	2	0.0114943	NM_004770	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																			.	.	none		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73848718	C	T	73848718	2	4	9	1	0	0	0	0	0	0	0	1	8013	581	21	2		2	KCNB2	8	73848718	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	6356203	73848718	72515304	48	1774										
HNF4G	3174	hgsc.bcm.edu	37	chr8	76471075	76471075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tccagtaaaaattaagaacaTgaggttccaagtgcagatcg	9	7	0	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:76471075T>C	ENST00000354370.1	+	9	1055	c.785T>C	c.(784-786)aTg>aCg	p.M262T	HNF4G_ENST00000396423.2_Missense_Mutation_p.M299T			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	262					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTAAGAACATGAGGTTCCAA	0.448																																					p.M299T		Atlas-SNP	.											.	HNF4G	111	.	0			c.T896C						PASS	.						81	75	77					8																	76471075		2203	4300	6503	SO:0001583	missense	3174	exon8			AGAACATGAGGTT		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.785T>C	8.37:g.76471075T>C	ENSP00000346339:p.Met262Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	89	9	0.101124	NM_004133	Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.150652	0.78001	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.96427	-4.01;-4.01	5.62	5.62	0.85841	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.033448	0.85682	D	0.000000	D	0.96728	0.8932	L	0.42245	1.32	0.80722	D	1	B;P	0.42409	0.121;0.779	B;P	0.57620	0.234;0.824	D	0.97499	1.0059	10	0.87932	D	0	.	15.8221	0.78662	0.0:0.0:0.0:1.0	.	299;262	F1D8Q4;Q14541	.;HNF4G_HUMAN	T	262;299	ENSP00000346339:M262T;ENSP00000379701:M299T	ENSP00000346339:M262T	M	+	2	0	HNF4G	76633630	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.991000	0.88244	2.139000	0.66308	0.533000	0.62120	ATG	.	.	none		0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		C	76471075	T	C	76471075	3	2	9	1	0	0	0	0	1	0	0	0	7254	1464	51	2	926	2	HNF4G	8	76471075	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	2622357	76471075	69892947	49	1775										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77616927	77616927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttcatatcgcttcatccctcGggaaaccatttacagccgat	6	13	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:77616927G>T	ENST00000521891.2	+	2	1052	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G202W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G202W|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G202W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	202					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)	p.G202W(1)		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)			TTCATCCCTCGGGAAACCATT	0.488										HNSCC(33;0.089)																											p.G202W		Atlas-SNP	.											ZFHX4,colon,carcinoma,0,3	ZFHX4	878	3	1	Substitution - Missense(1)	lung(1)	c.G604T						scavenged	.						86	79	81					8																	77616927		1975	4168	6143	SO:0001583	missense	79776	exon2			TCCCTCGGGAAAC		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.604G>T	8.37:g.77616927G>T	ENSP00000430497:p.Gly202Trp	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	118	2	0.0169492	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360528	0.41801	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.59;0.56;0.55	5.42	5.42	0.78866	.	0.000000	0.45361	U	0.000372	T	0.71126	0.3303	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.72297	-0.4335	10	0.87932	D	0	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	202;202;202;202	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	W	202	ENSP00000430497:G202W;ENSP00000399605:G202W;ENSP00000050961:G202W;ENSP00000430848:G202W	ENSP00000050961:G202W	G	+	1	0	ZFHX4	77779482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	GGG	.	.	none		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77616927	G	T	77616927	3	4	9	1	0	0	0	0	1	0	0	0	17632	1116	39	4	606	4	ZFHX4	8	77616927	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	1145852	77616927	68747095	50	1776										
FBXL6	26233	hgsc.bcm.edu	37	chr8	145579964	145579964	+	Silent	SNP	A	A	G													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	acccaggactgctgaccccgAcatggcagatcctgaaggcc					rs75159950	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:145579964A>G	ENST00000331890.5	-	7	1285	c.1221T>C	c.(1219-1221)tgT>tgC	p.C407C	SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.C401C|SLC52A2_ENST00000530047.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	407					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCTGACCCCGACATGGCAGAT	0.642																																					p.C407C		Atlas-SNP	.											FBXL6,colon,carcinoma,0,1	FBXL6	26	1	0			c.T1221C						scavenged	.																																			SO:0001819	synonymous_variant	26233	exon7			ACCCCGACATGGC	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1221T>C	8.37:g.145579964A>G		Somatic	51	5	0.0980392		WXS	Illumina HiSeq	Phase_I	52	6	0.115385	NM_012162	Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	CCDS6422.1																																																																																			A|0.928;G|0.072	0.072	strong		0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		G	145579964	A	G	145579964	2	3	9	1	0	0	0	0	0	0	0	1	5723	273	10	2		2	FBXL6	8	145579964	Silent	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	67963037	145579964	784058	51	1777	39	2								
FBXL6	26233	hgsc.bcm.edu	37	chr8	145579967	145579967	+	Silent	SNP	T	T	C													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	caggactgctgaccccgacaTggcagatcctgaaggccagc					rs77157066	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr8:145579967T>C	ENST00000331890.5	-	7	1282	c.1218A>G	c.(1216-1218)ccA>ccG	p.P406P	SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.P400P|SLC52A2_ENST00000530047.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	406					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GACCCCGACATGGCAGATCCT	0.642																																					p.P406P		Atlas-SNP	.											FBXL6,colon,carcinoma,0,1	FBXL6	26	1	0			c.A1218G						scavenged	.						40	40	40					8																	145579967		2201	4298	6499	SO:0001819	synonymous_variant	26233	exon7			CCGACATGGCAGA	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1218A>G	8.37:g.145579967T>C		Somatic	50	5	0.1		WXS	Illumina HiSeq	Phase_I	54	6	0.111111	NM_012162	Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	CCDS6422.1																																																																																			T|0.926;C|0.074	0.074	strong		0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		C	145579967	T	C	145579967	2	2	9	1	0	0	0	0	0	0	0	1	5723	1451	51	2		2	FBXL6	8	145579967	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	3	145579967	784055	52	1778	39	2								
AQP7	364	hgsc.bcm.edu	37	chr9	33385690	33385690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agcaatgaaggtgaagatgcGggggggcaggtcccgggacg	20	7	0	3	rs139024279		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr9:33385690G>T	ENST00000537089.1	-	6	742	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	AQP7_ENST00000539936.1_Missense_Mutation_p.R234S|AQP7_ENST00000377425.4_Missense_Mutation_p.R177S|AQP7_ENST00000541274.1_Missense_Mutation_p.P102Q			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTGAAGATGCGGGGGGGCAGG	0.577																																					p.R234S		Atlas-SNP	.											AQP7,colon,carcinoma,0,1	AQP7	58	1	1	Insertion - Frameshift(1)	lung(1)	c.C700A						scavenged	.						74	81	78					9																	33385690		2203	4300	6503	SO:0001583	missense	364	exon7			AGATGCGGGGGGG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.424C>A	9.37:g.33385690G>T	ENSP00000441619:p.Arg142Ser	Somatic	22	1	0.0454545		WXS	Illumina HiSeq	Phase_I	24	7	0.291667	NM_001170	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.50|14.50	2.553881|2.553881	0.45487|0.45487	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000541274|ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T|T;T;T;T;T;T;T;T;T	0.57273|0.13196	0.41|2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.04|5.04	4.07|4.07	0.47477|0.47477	.|Aquaporin-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49474|0.49474	0.1559|0.1559	H|H	0.97315|0.97315	3.98|3.98	0.58432|0.58432	D|D	0.999997|0.999997	P|D;P;P;P	0.39216|0.55800	0.664|0.973;0.872;0.525;0.795	B|D;D;P;P	0.36289|0.67900	0.221|0.954;0.923;0.814;0.878	T|T	0.64550|0.64550	-0.6381|-0.6381	9|10	0.87932|0.66056	D|D	0|0.02	-16.683|-16.683	12.4686|12.4686	0.55773|0.55773	0.0:0.0:0.8227:0.1772|0.0:0.0:0.8227:0.1772	.|.	102|233;234;177;234	B7Z7F6|Q5T5M0;B7Z4U2;Q6P5T0;O14520	.|.;.;.;AQP7_HUMAN	Q|S	102|142;233;102;234;177;142;233;234;170	ENSP00000438860:P102Q|ENSP00000441619:R142S;ENSP00000368821:R233S;ENSP00000412868:R102S;ENSP00000297988:R234S;ENSP00000396111:R177S;ENSP00000410138:R142S;ENSP00000368820:R233S;ENSP00000439534:R234S;ENSP00000368817:R170S	ENSP00000438860:P102Q|ENSP00000297988:R234S	P|R	-|-	2|1	0|0	AQP7|AQP7	33375690|33375690	0.731000|0.731000	0.28111|0.28111	0.404000|0.404000	0.26397|0.26397	0.223000|0.223000	0.24884|0.24884	1.249000|1.249000	0.32839|0.32839	2.621000|2.621000	0.88768|0.88768	0.550000|0.550000	0.68814|0.68814	CCG|CGC	G|0.986;T|0.014	0.014	strong		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385690	G	T	33385690	3	4	9	1	0	0	0	0	1	0	0	0	831	1116	39	4	336	4	AQP7	9	33385690	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		33385690	107827741	53	1779										
AQP7	364	hgsc.bcm.edu	37	chr9	33385808	33385808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gttcctggcagtgctgggttGttctcctggtccgtgatggc	15	10	1	1	rs62542744		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr9:33385808G>T	ENST00000537089.1	-	6	624	c.306C>A	c.(304-306)aaC>aaA	p.N102K	AQP7_ENST00000539936.1_Missense_Mutation_p.N194K|AQP7_ENST00000377425.4_Missense_Mutation_p.N137K|AQP7_ENST00000541274.1_Missense_Mutation_p.Q63K			O14520	AQP7_HUMAN	aquaporin 7	194					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTGCTGGGTTGTTCTCCTGGT	0.607																																					p.N194K		Atlas-SNP	.											AQP7,colon,carcinoma,0,1	AQP7	58	1	0			c.C582A						scavenged	.						122	107	112					9																	33385808		2203	4300	6503	SO:0001583	missense	364	exon7			TGGGTTGTTCTCC	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.306C>A	9.37:g.33385808G>T	ENSP00000441619:p.Asn102Lys	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	30	6	0.2	NM_001170	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.08|15.08	2.727222|2.727222	0.48833|0.48833	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.83755|0.43688	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76|0.94	5.02|5.02	4.12|4.12	0.48240|0.48240	Aquaporin-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54711|0.54711	0.1875|0.1875	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D;D|D	0.89917|0.76494	1.0;0.999;1.0;1.0|0.999	D;D;D;D|D	0.87578|0.72338	0.995;0.995;0.993;0.998|0.977	T|T	0.53143|0.53143	-0.8480|-0.8480	10|8	0.87932|.	D|.	0|.	-24.7401|-24.7401	7.8517|7.8517	0.29459|0.29459	0.1855:0.0:0.8145:0.0|0.1855:0.0:0.8145:0.0	rs62542744|rs62542744	193;194;137;194|63	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	K|K	102;193;62;194;137;102;193;194;130|63	ENSP00000441619:N102K;ENSP00000368821:N193K;ENSP00000412868:N62K;ENSP00000297988:N194K;ENSP00000396111:N137K;ENSP00000410138:N102K;ENSP00000368820:N193K;ENSP00000439534:N194K;ENSP00000368817:N130K|ENSP00000438860:Q63K	ENSP00000297988:N194K|.	N|Q	-|-	3|1	2|0	AQP7|AQP7	33375808|33375808	1.000000|1.000000	0.71417|0.71417	0.740000|0.740000	0.30986|0.30986	0.116000|0.116000	0.19942|0.19942	2.130000|2.130000	0.42064|0.42064	1.319000|1.319000	0.45190|0.45190	0.645000|0.645000	0.84053|0.84053	AAC|CAA	.	.	weak		0.607	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385808	G	T	33385808	3	4	9	1	0	0	0	0	1	0	0	0	831	1368	48	4	454	4	AQP7	9	33385808	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	118	33385808	107827623	54	1780										
ANKRD30A	91074	hgsc.bcm.edu	37	chr10	37508026	37508026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	acaccaataccaggaaaaggAaaataaatactttgaggaca	7	7	0	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:37508026A>T	ENST00000602533.1	+	34	3317	c.3218A>T	c.(3217-3219)gAa>gTa	p.E1073V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1192V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1129					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAGGAAAAGGAAAATAAATAC	0.318																																					p.E1073V		Atlas-SNP	.											.	ANKRD30A	448	.	0			c.A3218T						PASS	.						77	77	77					10																	37508026		1813	4064	5877	SO:0001583	missense	91074	exon34			AAAAGGAAAATAA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3218A>T	10.37:g.37508026A>T	ENSP00000473551:p.Glu1073Val	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	160	12	0.075	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	9.278	1.047446	0.19827	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.28454	1.61;1.61	2.81	2.81	0.32909	.	.	.	.	.	T	0.52533	0.1740	M	0.81112	2.525	0.32056	N	0.596317	D	0.69078	0.997	D	0.68483	0.958	T	0.61481	-0.7054	9	0.87932	D	0	.	8.8066	0.34941	1.0:0.0:0.0:0.0	.	1129	Q9BXX3	AN30A_HUMAN	V	1073;1192	ENSP00000354432:E1073V;ENSP00000363792:E1192V	ENSP00000354432:E1073V	E	+	2	0	ANKRD30A	37548032	1.000000	0.71417	0.063000	0.19743	0.004000	0.04260	3.826000	0.55738	1.151000	0.42436	0.381000	0.24937	GAA	.	.	none		0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37508026	A	T	37508026	3	4	9	1	0	0	0	0	1	0	0	0	658	246	9	5	3352	5	ANKRD30A	10	37508026	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10		37508026	98026721	55	1781										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55626476	55626476	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttgaaacttgaagtaggatcTcctcatattatggaagagca	9	6	2	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:55626476T>G	ENST00000320301.6	-	27	4037	c.3643A>C	c.(3643-3645)Aga>Cga	p.R1215R	PCDH15_ENST00000395432.2_Silent_p.R1178R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Silent_p.R1222R|PCDH15_ENST00000395430.1_Silent_p.R1215R|PCDH15_ENST00000395438.1_Silent_p.R1215R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R1222R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Silent_p.R1193R|PCDH15_ENST00000361849.3_Silent_p.R1215R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Silent_p.R826R|PCDH15_ENST00000414778.1_Silent_p.R1220R|PCDH15_ENST00000437009.1_Silent_p.R1144R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1215	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGTAGGATCTCCTCATATTA	0.403										HNSCC(58;0.16)																											p.R1220R		Atlas-SNP	.											.	PCDH15	1715	.	0			c.A3658C						PASS	.						145	127	133					10																	55626476		2203	4300	6503	SO:0001819	synonymous_variant	65217	exon28			AGGATCTCCTCAT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3643A>C	10.37:g.55626476T>G		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	145	6	0.0413793	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																			.	.	none		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55626476	T	G	55626476	2	3	9	1	0	0	0	0	0	0	0	1	11511	1559	54	5		5	PCDH15	10	55626476	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	18118450	55626476	79908271	56	1782										
BICC1	80114	hgsc.bcm.edu	37	chr10	60549152	60549152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttcagtatcatttaaacagcGttcccgaatgtatggtgcta	8	8	2	0	rs192860241	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:60549152G>A	ENST00000373886.3	+	7	735	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	244					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTAAACAGCGTTCCCGAATG	0.388													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18107	0.0		0.0	False		,,,				2504	0.001				p.R244H		Atlas-SNP	.											BICC1,colon,carcinoma,+1,1	BICC1	121	1	0			c.G731A						PASS	.						138	132	134					10																	60549152		2203	4300	6503	SO:0001583	missense	80114	exon7			AACAGCGTTCCCG	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.731G>A	10.37:g.60549152G>A	ENSP00000362993:p.Arg244His	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	155	10	0.0645161	NM_001080512		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	26.2	4.712381	0.89112	.	.	ENSG00000122870	ENST00000373886	T	0.32023	1.47	5.66	5.66	0.87406	.	0.048305	0.85682	D	0.000000	T	0.51075	0.1653	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.46871	-0.9160	10	0.56958	D	0.05	-7.8917	19.756	0.96291	0.0:0.0:1.0:0.0	.	244	Q9H694	BICC1_HUMAN	H	244	ENSP00000362993:R244H	ENSP00000362993:R244H	R	+	2	0	BICC1	60219158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.939000	0.70179	2.665000	0.90641	0.655000	0.94253	CGT	G|1.000;A|0.000	0.000	strong		0.388	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		A	60549152	G	A	60549152	3	1	9	1	0	0	0	0	1	0	0	0	1427	1145	40	1	757	1	BICC1	10	60549152	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	4922676	60549152	74985595	57	1783										
CTNNA3	29119	hgsc.bcm.edu	37	chr10	67829199	67829199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tttcttgaaatcagcaacttGctcagcaatcttttcttttt	4	9	5	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:67829199G>T	ENST00000433211.2	-	15	2200	c.2026C>A	c.(2026-2028)Caa>Aaa	p.Q676K	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q676K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCAGCAACTTGCTCAGCAATC	0.378																																					p.Q676K		Atlas-SNP	.											.	CTNNA3	401	.	0			c.C2026A						PASS	.						207	178	188					10																	67829199		2203	4300	6503	SO:0001583	missense	29119	exon15			CAACTTGCTCAGC	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2026C>A	10.37:g.67829199G>T	ENSP00000389714:p.Gln676Lys	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	150	16	0.106667	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815033	0.90790	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.39787	1.06;1.06;1.06	5.29	5.29	0.74685	.	0.000000	0.49916	D	0.000129	T	0.69223	0.3087	M	0.88105	2.93	0.80722	D	1	D	0.53885	0.963	D	0.71414	0.973	T	0.71494	-0.4576	10	0.37606	T	0.19	-13.4866	16.4194	0.83753	0.0:0.0:1.0:0.0	.	676	Q9UI47	CTNA3_HUMAN	K	676;676;15	ENSP00000389714:Q676K;ENSP00000362849:Q676K;ENSP00000362840:Q15K	ENSP00000362840:Q15K	Q	-	1	0	CTNNA3	67499205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.492000	0.97957	2.483000	0.83821	0.591000	0.81541	CAA	.	.	none		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	67829199	G	T	67829199	3	4	9	1	0	0	0	0	1	0	0	0	4014	1328	46	4	677	4	CTNNA3	10	67829199	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	7280047	67829199	67705548	58	1784										
TLX1	3195	hgsc.bcm.edu	37	chr10	102896618	102896618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gaatctgcagccgtggtctgAcgactcgaccaaaatcacta	9	12	3	1	rs567197994	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:102896618A>G	ENST00000370196.6	+	3	2983	c.941A>G	c.(940-942)gAc>gGc	p.D314G	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	314					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCGTGGTCTGACGACTCGACC	0.647			T	"TRB@, TRD@"	T-ALL																																p.D314G		Atlas-SNP	.		Dom	yes		10	10q24	3195	" T-cell leukemia, homeobox 1 (HOX11)"		L	TLX1,NS,carcinoma,-1,1	TLX1	20	1	0			c.A941G						PASS	.						87	71	76					10																	102896618		2203	4300	6503	SO:0001583	missense	3195	exon3			GGTCTGACGACTC	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.941A>G	10.37:g.102896618A>G	ENSP00000359215:p.Asp314Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	124	18	0.145161	NM_005521	A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333134	0.81801	.	.	ENSG00000107807	ENST00000370196	D	0.90069	-2.61	4.39	4.39	0.52855	.	0.048467	0.85682	D	0.000000	D	0.82458	0.5041	L	0.31664	0.95	0.80722	D	1	P	0.37864	0.61	B	0.34873	0.191	D	0.84604	0.0674	10	0.72032	D	0.01	.	13.8955	0.63768	1.0:0.0:0.0:0.0	.	314	P31314	TLX1_HUMAN	G	314	ENSP00000359215:D314G	ENSP00000359215:D314G	D	+	2	0	TLX1	102886608	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.774000	0.91767	1.750000	0.51863	0.379000	0.24179	GAC	.	.	none		0.647	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		G	102896618	A	G	102896618	3	3	9	1	0	0	0	0	1	0	0	0	15956	275	10	2	951	2	TLX1	10	102896618	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	35067419	102896618	32638129	59	1785										
C10orf78	119392	hgsc.bcm.edu	37	chr10	105883796	105883796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttcctaaacaaagattaaacGctgaaaaagccaaattggtg	7	7	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:105883796G>A	ENST00000369727.3	+	3	479	c.460G>A	c.(460-462)Gct>Act	p.A154T	SFR1_ENST00000336358.5_Missense_Mutation_p.A216T|SFR1_ENST00000369729.3_Missense_Mutation_p.A141T	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	154					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AAGATTAAACGCTGAAAAAGC	0.393																																					p.A154T		Atlas-SNP	.											MEIR5,NS,carcinoma,-2,1	.	.	1	0			c.G460A						PASS	.						44	46	45					10																	105883796		2203	4300	6503	SO:0001583	missense	119392	exon3			TTAAACGCTGAAA	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 78", "MEI5 recombination repair protein homolog (S. cerevisiae)"	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.460G>A	10.37:g.105883796G>A	ENSP00000358742:p.Ala154Thr	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	203	24	0.118227	NM_001002759	A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524280	0.44866	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.45276	0.95;0.94;0.9	5.72	2.67	0.31697	.	0.329743	0.32190	N	0.006447	T	0.18759	0.0450	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	10	0.17369	T	0.5	-5.8542	7.0584	0.25111	0.1524:0.2566:0.591:0.0	.	216;154	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	T	141;154;216	ENSP00000358744:A141T;ENSP00000358742:A154T;ENSP00000338089:A216T	ENSP00000338089:A216T	A	+	1	0	SFR1	105873786	1.000000	0.71417	0.879000	0.34478	0.681000	0.39784	2.676000	0.46883	0.350000	0.24002	0.655000	0.94253	GCT	.	.	none		0.393	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		A	105883796	G	A	105883796	3	1	9	1	0	0	0	0	1	0	0	0	1617	1087	38	1	470	1	C10orf78	10	105883796	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	2987178	105883796	29650951	60	1786										
SORCS3	22986	hgsc.bcm.edu	37	chr10	106959775	106959775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agagtttttggccacttcagCctccgctccgaatggcaatt	9	12	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:106959775C>T	ENST00000369701.3	+	15	2255	c.2028C>T	c.(2026-2028)agC>agT	p.S676S	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	676					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCACTTCAGCCTCCGCTCCG	0.502																																					p.S676S	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											.	SORCS3	282	.	0			c.C2028T						PASS	.						112	100	104					10																	106959775		2203	4300	6503	SO:0001819	synonymous_variant	22986	exon15			CTTCAGCCTCCGC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2028C>T	10.37:g.106959775C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	81	9	0.111111	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																			.	.	none		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106959775	C	T	106959775	2	4	9	1	0	0	0	0	0	0	0	1	14932	738	26	2		2	SORCS3	10	106959775	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	1075979	106959775	28574972	61	1787										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135439015	135439015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aacgtcccctatggtgggcaTcacaggtctcctggatttca	10	12	3	0	rs75470891		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr10:135439015T>C	ENST00000425520.1	-	4	477	c.425A>G	c.(424-426)gAt>gGt	p.D142G	FRG2B_ENST00000443774.1_Missense_Mutation_p.D143G	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	142						nucleus (GO:0005634)		p.D143G(1)|p.D142G(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATGGTGGGCATCACAGGTCTC	0.517																																					p.D142G		Atlas-SNP	.											FRG2B,NS,carcinoma,0,1	FRG2B	47	1	2	Substitution - Missense(2)	prostate(2)	c.A425G						scavenged	.						94	106	102					10																	135439015		2200	4298	6498	SO:0001583	missense	441581	exon4			TGGGCATCACAGG	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.425A>G	10.37:g.135439015T>C	ENSP00000401310:p.Asp142Gly	Somatic	397	7	0.0176322		WXS	Illumina HiSeq	Phase_I	298	7	0.0234899	NM_001080998	Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	7.820	0.717602	0.15372	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.46063	0.88;0.88	.	.	.	.	2.387620	0.01707	N	0.027493	T	0.45115	0.1326	N	0.19112	0.55	0.80722	P	0.0	D	0.61697	0.99	D	0.66351	0.943	T	0.44967	-0.9293	7	0.25751	T	0.34	-0.0211	.	.	.	.	142	Q96QU4	FRG2B_HUMAN	G	143;142	ENSP00000408343:D143G;ENSP00000401310:D142G	ENSP00000401310:D142G	D	-	2	0	FRG2B	135289005	0.038000	0.19896	0.258000	0.24420	0.260000	0.26232	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	GAT	C|1.000;|0.000	1.000	weak		0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439015	T	C	135439015	3	2	9	1	0	0	0	0	1	0	0	0	6047	1435	50	2	414	2	FRG2B	10	135439015	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	28479240	135439015	95732	62	1788										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017483	1017483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttctggtgcctgtactggtgTggttgggggtgatgctggtg	19	5	1	1	rs79986665		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:1017483T>G	ENST00000421673.2	-	31	5368	c.5318A>C	c.(5317-5319)cAc>cCc	p.H1773P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1773	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGGTGTGGTTGGGGGT	0.577																																					p.H1773P		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.A5318C						scavenged	.						544	541	542					11																	1017483		2199	4294	6493	SO:0001583	missense	4588	exon31			CTGGTGTGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5318A>C	11.37:g.1017483T>G	ENSP00000406861:p.His1773Pro	Somatic	592	110	0.185811		WXS	Illumina HiSeq	Phase_I	377	72	0.190981	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	4.174	0.030796	0.08101	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.91	0.844	0.18943	.	.	.	.	.	T	0.04907	0.0132	N	0.01109	-1.01	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.43065	-0.9414	9	0.22706	T	0.39	.	6.6218	0.22808	0.0:0.1732:0.4682:0.3586	.	1773	Q6W4X9	MUC6_HUMAN	P	1773	ENSP00000406861:H1773P	ENSP00000406861:H1773P	H	-	2	0	MUC6	1007483	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	0.066000	0.16515	-0.743000	0.03520	CAC	T|0.500;G|0.500	0.500	weak		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017483	T	G	1017483	3	3	9	1	0	0	0	0	1	0	0	0	9980	1696	59	5	2013	5	MUC6	11	1017483	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10		1017483	133989033	63	1789										
DCDC1	341019	hgsc.bcm.edu	37	chr11	31329373	31329373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgatactgctgctgaatgcaCgagtctgttggggccaaact	12	9	1	2	rs2761591	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:31329373C>T	ENST00000452803.1	-	4	448	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Missense_Mutation_p.V83M	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	83			V -> M (in dbSNP:rs2761591).		intracellular signal transduction (GO:0035556)			p.V83M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTGAATGCACGAGTCTGTTG	0.423													C|||	552	0.110224	0.329	0.1354	5008	,	,		18700	0.0198		0.002	False		,,,				2504	0.001				p.V83M		Atlas-SNP	.											DCDC1,NS,carcinoma,0,1	DCDC1	74	1	1	Substitution - Missense(1)	stomach(1)	c.G247A						PASS	.	C	MET/VAL	1322,3082	444.1+/-347.2	194,934,1074	250	233	239		247	0.9	1	11	dbSNP_100	239	31,8567	20.4+/-63.3	1,29,4269	yes	missense	DCDC1	NM_181807.3	21	195,963,5343	TT,TC,CC		0.3605,30.0182,10.4061	benign	83/355	31329373	1353,11649	2202	4299	6501	SO:0001583	missense	341019	exon4			AATGCACGAGTCT	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.247G>A	11.37:g.31329373C>T	ENSP00000389792:p.Val83Met	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_181807	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	193	0.08836996336996338	140	0.2845528455284553	44	0.12154696132596685	9	0.015734265734265736	0	0.0	C	12.62	1.991495	0.35131	0.300182	0.003605	ENSG00000188682	ENST00000452803	T	0.34667	1.35	5.9	0.907	0.19321	.	0.629315	0.13069	N	0.416247	T	0.00012	0.0000	N	0.14661	0.345	0.53688	P	2.1000000000048757E-5	P	0.47409	0.895	B	0.34652	0.187	T	0.40421	-0.9564	9	0.52906	T	0.07	.	4.4324	0.11535	0.4048:0.3536:0.2416:0.0	rs2761591;rs52799655;rs2761591	83	P59894	DCDC1_HUMAN	M	83	ENSP00000389792:V83M	ENSP00000343496:V83M	V	-	1	0	DCDC1	31285949	0.106000	0.21978	0.965000	0.40720	0.595000	0.36748	0.436000	0.21526	0.150000	0.19136	-0.271000	0.10264	GTG	C|0.894;T|0.106	0.106	strong		0.423	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		T	31329373	C	T	31329373	3	4	9	1	0	0	0	0	1	0	0	0	4284	536	19	1	841	1	DCDC1	11	31329373	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	30311890	31329373	103677143	64	1790										
AMBRA1	55626	hgsc.bcm.edu	37	chr11	46419037	46419037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctcccctagggcctgcagcgTcccccctgctgctgccacca	9	21	0	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:46419037T>C	ENST00000458649.2	-	18	4278	c.3860A>G	c.(3859-3861)gAc>gGc	p.D1287G	AMBRA1_ENST00000314845.3_Missense_Mutation_p.D1197G|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D1168G|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D1227G|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D1227G|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D1258G			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1287					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCT	0.602																																					p.D1290G		Atlas-SNP	.											AMBRA1_ENST00000458649,bladder,carcinoma,0,2	AMBRA1	201	2	0			c.A3869G						scavenged	.						99	92	94					11																	46419037		2202	4299	6501	SO:0001583	missense	55626	exon20			GCAGCGTCCCCCC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3860A>G	11.37:g.46419037T>C	ENSP00000415327:p.Asp1287Gly	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	50	6	0.12	NM_001267782	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	T	3.583	-0.085189	0.07097	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.39;-0.54;-0.13;-0.25;-0.13;-0.25;-0.25	4.22	4.22	0.49857	.	0.672381	0.14331	N	0.326324	T	0.49304	0.1549	N	0.08118	0	0.20196	N	0.999929	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.41680	-0.9495	10	0.66056	D	0.02	.	8.3457	0.32272	0.0:0.0907:0.0:0.9093	.	1287;1258;1227;1168;1290;1197	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	G	1197;1168;1227;1258;1227;1287;245;1258	ENSP00000318313:D1197G;ENSP00000433372:D1168G;ENSP00000431926:D1227G;ENSP00000410899:D1258G;ENSP00000298834:D1227G;ENSP00000415327:D1287G;ENSP00000433945:D1258G	ENSP00000298834:D1227G	D	-	2	0	AMBRA1	46375613	0.641000	0.27251	0.867000	0.34043	0.009000	0.06853	1.775000	0.38584	2.135000	0.66039	0.459000	0.35465	GAC	.	.	none		0.602	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		C	46419037	T	C	46419037	3	2	9	1	0	0	0	0	1	0	0	0	565	1667	58	2	40	2	AMBRA1	11	46419037	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	15089664	46419037	88587479	65	1791										
OR4S1	256148	hgsc.bcm.edu	37	chr11	48328231	48328231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cctggttagctggcttcctgCattccatcctgcagaccctc	8	16	0	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:48328231C>T	ENST00000319988.1	+	1	457	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGCTTCCTGCATTCCATCCT	0.567																																					p.H153Y		Atlas-SNP	.											.	OR4S1	52	.	0			c.C457T						PASS	.						119	102	108					11																	48328231		2201	4298	6499	SO:0001583	missense	256148	exon1			TTCCTGCATTCCA	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.457C>T	11.37:g.48328231C>T	ENSP00000321447:p.His153Tyr	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	113	10	0.0884956	NM_001004725	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558614	0.65538	.	.	ENSG00000176555	ENST00000319988	T	0.36699	1.24	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60090	0.2242	M	0.66506	2.035	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.53781	-0.8390	9	0.87932	D	0	.	16.186	0.81950	0.0:1.0:0.0:0.0	.	153	Q8NGB4	OR4S1_HUMAN	Y	153	ENSP00000321447:H153Y	ENSP00000321447:H153Y	H	+	1	0	OR4S1	48284807	0.000000	0.05858	0.759000	0.31340	0.986000	0.74619	-0.017000	0.12590	2.497000	0.84241	0.655000	0.94253	CAT	.	.	none		0.567	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		T	48328231	C	T	48328231	3	4	9	1	0	0	0	0	1	0	0	0	11082	710	25	2	459	2	OR4S1	11	48328231	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	1909194	48328231	86678285	66	1792										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	412	11	0.026699		WXS	Illumina HiSeq	Phase_I	274	15	0.0547445	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	9	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	7327366	55655597	79350919	67	1793										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	140	8	0.0571429	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	9	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	2315606	57971203	77035313	68	1794										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971351	57971351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tcataagagatggattggctGttggtttgaatattcaccag	11	5	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:57971351G>C	ENST00000302592.6	-	1	302	c.303C>G	c.(301-303)aaC>aaG	p.N101K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGGATTGGCTGTTGGTTTGAA	0.443																																					p.N101K		Atlas-SNP	.											OR1S2,NS,adenoma,-1,1	OR1S2	119	1	0			c.C303G						scavenged	.						177	168	171					11																	57971351		2201	4296	6497	SO:0001583	missense	219958	exon1			TTGGCTGTTGGTT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.303C>G	11.37:g.57971351G>C	ENSP00000305469:p.Asn101Lys	Somatic	368	2	0.00543478		WXS	Illumina HiSeq	Phase_I	266	5	0.018797	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.800641	0.00611	.	.	ENSG00000197887	ENST00000302592	T	0.01981	4.52	4.47	-8.37	0.00976	GPCR, rhodopsin-like superfamily (1);	1.336330	0.04978	N	0.465118	T	0.00815	0.0027	N	0.01250	-0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50482	-0.8823	10	0.36615	T	0.2	.	4.0571	0.09821	0.2759:0.3611:0.2766:0.0863	.	101	Q8NGQ3	OR1S2_HUMAN	K	101	ENSP00000305469:N101K	ENSP00000305469:N101K	N	-	3	2	OR1S2	57727927	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.209000	0.00557	-1.926000	0.01061	-2.533000	0.00181	AAC	.	.	none		0.443	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		C	57971351	G	C	57971351	3	2	9	1	0	0	0	0	1	0	0	0	10973	1368	48	4	677	4	OR1S2	11	57971351	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	148	57971351	77035165	69	1795										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978519	58978519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tggtcactatgacagtattgGtggcagcctgactcatgagg	13	8	2	3	rs376216311		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:58978519G>A	ENST00000361050.3	-	1	1905	c.1820C>T	c.(1819-1821)aCc>aTc	p.T607I		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	607						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GACAGTATTGGTGGCAGCCTG	0.582																																					p.T607I		Atlas-SNP	.											.	MPEG1	72	.	0			c.C1820T						PASS	.						108	114	112					11																	58978519		1948	4124	6072	SO:0001583	missense	219972	exon1			GTATTGGTGGCAG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1820C>T	11.37:g.58978519G>A	ENSP00000354335:p.Thr607Ile	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	126	15	0.119048	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559489	0.27827	.	.	ENSG00000197629	ENST00000361050	T	0.25085	1.82	5.69	5.69	0.88448	.	0.113776	0.64402	D	0.000019	T	0.47619	0.1455	M	0.72894	2.215	0.43300	D	0.995291	D	0.65815	0.995	P	0.59424	0.857	T	0.40608	-0.9554	10	0.54805	T	0.06	-19.9386	16.7224	0.85413	0.0:0.0:1.0:0.0	.	607	Q2M385	MPEG1_HUMAN	I	607	ENSP00000354335:T607I	ENSP00000354335:T607I	T	-	2	0	MPEG1	58735095	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.083000	0.50136	2.682000	0.91365	0.655000	0.94253	ACC	.	.	alt		0.582	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58978519	G	A	58978519	3	1	9	1	0	0	0	0	1	0	0	0	9723	1261	44	2	334	2	MPEG1	11	58978519	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	1007168	58978519	76027997	70	1796			1	15		3	3	1026	N	G_C	6.975227e-06
MPEG1	219972	hgsc.bcm.edu	37	chr11	58979509	58979509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aaaaaggaacccctccaatgCtctgcaccctggagttggtt	9	12	1	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:58979509C>T	ENST00000361050.3	-	1	915	c.830G>A	c.(829-831)aGc>aAc	p.S277N	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCCTCCAATGCTCTGCACCCT	0.542																																					p.S277N		Atlas-SNP	.											.	MPEG1	72	.	0			c.G830A						PASS	.						29	26	27					11																	58979509		1851	4082	5933	SO:0001583	missense	219972	exon1			CCAATGCTCTGCA	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.830G>A	11.37:g.58979509C>T	ENSP00000354335:p.Ser277Asn	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	117	11	0.0940171	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930767	0.73327	.	.	ENSG00000197629	ENST00000361050	D	0.84589	-1.87	5.38	5.38	0.77491	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.91297	0.7256	M	0.67953	2.075	0.50313	D	0.999864	D	0.89917	1.0	D	0.91635	0.999	D	0.91418	0.5156	10	0.54805	T	0.06	-33.9117	16.1079	0.81237	0.0:1.0:0.0:0.0	.	277	Q2M385	MPEG1_HUMAN	N	277	ENSP00000354335:S277N	ENSP00000354335:S277N	S	-	2	0	MPEG1	58736085	1.000000	0.71417	0.677000	0.29947	0.973000	0.67179	7.032000	0.76498	2.541000	0.85698	0.650000	0.86243	AGC	.	.	none		0.542	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58979509	C	T	58979509	3	4	9	1	0	0	0	0	1	0	0	0	9723	797	28	2	1324	2	MPEG1	11	58979509	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	990	58979509	76027007	71	1797			1	15		3	3	1026	N	G_C	6.975227e-06
MPEG1	219972	hgsc.bcm.edu	37	chr11	58979544	58979544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ttggttcggtttgagaggtaGctcttggtgaggacattctg	15	5	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:58979544G>A	ENST00000361050.3	-	1	880	c.795C>T	c.(793-795)agC>agT	p.S265S	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	265	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGAGAGGTAGCTCTTGGTGA	0.532																																					p.S265S		Atlas-SNP	.											.	MPEG1	72	.	0			c.C795T						PASS	.						38	36	37					11																	58979544		1901	4108	6009	SO:0001819	synonymous_variant	219972	exon1			GAGGTAGCTCTTG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.795C>T	11.37:g.58979544G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	133	12	0.0902256	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																			.	.	none		0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58979544	G	A	58979544	2	1	9	1	0	0	0	0	0	0	0	1	9723	962	34	2		2	MPEG1	11	58979544	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	35	58979544	76026972	72	1798			1	15		3	3	1026	N	G_C	6.975227e-06
NPAT	4863	hgsc.bcm.edu	37	chr11	108044437	108044437	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cagctgttttaaaggcctttTtctgtatgctggtacttatt	8	7	1	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr11:108044437T>A	ENST00000278612.8	-	13	1379	c.1274A>T	c.(1273-1275)aAa>aTa	p.K425I	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	425					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAAGGCCTTTTTCTGTATGCT	0.378																																					p.K425I		Atlas-SNP	.											.	NPAT	124	.	0			c.A1274T						PASS	.						151	141	144					11																	108044437		1861	4089	5950	SO:0001583	missense	4863	exon13			GCCTTTTTCTGTA	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1274A>T	11.37:g.108044437T>A	ENSP00000278612:p.Lys425Ile	Somatic	543	0	0		WXS	Illumina HiSeq	Phase_I	391	34	0.0869565	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447588	0.43429	.	.	ENSG00000149308	ENST00000278612	T	0.05925	3.37	5.54	5.54	0.83059	.	0.119077	0.56097	D	0.000025	T	0.23688	0.0573	M	0.69823	2.125	0.42227	D	0.991876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00386	-1.1772	10	0.56958	D	0.05	-24.8189	13.7058	0.62639	0.0:0.0:0.0:1.0	.	425;425	B9EG70;Q14207	.;NPAT_HUMAN	I	425	ENSP00000278612:K425I	ENSP00000278612:K425I	K	-	2	0	NPAT	107549647	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	2.613000	0.46351	2.231000	0.72958	0.455000	0.32223	AAA	.	.	none		0.378	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		A	108044437	T	A	108044437	3	1	9	1	0	0	0	0	1	0	0	0	10566	1841	64	5	3033	5	NPAT	11	108044437	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	49064893	108044437	26962079	73	1799										
ATN1	1822	hgsc.bcm.edu	37	chr12	7045906	7045906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cagcaacagcagcagcagcaGcagcagcagcagcagcagca	12	14	0	0	rs377147612		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:7045906G>A	ENST00000356654.4	+	5	1713	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	ATN1_ENST00000396684.2_Silent_p.Q492Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	492	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.647																																					p.Q492Q		Atlas-SNP	.											.	ATN1	95	.	0			c.G1476A						PASS	.						43	53	49					12																	7045906		2188	4263	6451	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1476G>A	12.37:g.7045906G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	46	5	0.108696	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.	.	none		0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045906	G	A	7045906	2	1	9	1	0	0	0	0	0	0	0	1	1111	962	34	2		2	ATN1	12	7045906	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		7045906	126805989	74	1800										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18491371	18491371	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tatctacaggaaaacgtgtaTaatattattgaagaagttaa	7	3	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:18491371T>C	ENST00000266497.5	+	8	1322	c.1284T>C	c.(1282-1284)taT>taC	p.Y428Y	PIK3C2G_ENST00000433979.1_Silent_p.Y428Y|PIK3C2G_ENST00000538779.1_Silent_p.Y428Y|PIK3C2G_ENST00000535651.1_Silent_p.Y428Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	428					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAAACGTGTATAATATTATTG	0.308																																					p.Y428Y		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.T1284C						PASS	.						81	83	82					12																	18491371		1824	4063	5887	SO:0001819	synonymous_variant	5288	exon9			CGTGTATAATATT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1284T>C	12.37:g.18491371T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	124	7	0.0564516	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			.	.	none		0.308	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18491371	T	C	18491371	2	2	9	1	0	0	0	0	0	0	0	1	11911	1413	49	2		2	PIK3C2G	12	18491371	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	11445465	18491371	115360524	75	1801										
LYRM5	144363	hgsc.bcm.edu	37	chr12	25357062	25357062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agactatccaaaaggagcagActattttaaaaagcgtttga	8	6	0	3	rs534127550	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:25357062A>C	ENST00000381356.4	+	3	248	c.89A>C	c.(88-90)gAc>gCc	p.D30A	LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000555711.1_Missense_Mutation_p.R36S|LYRM5_ENST00000557540.2_Missense_Mutation_p.D28A|LYRM5_ENST00000556885.1_Missense_Mutation_p.D28A|LYRM5_ENST00000554266.1_3'UTR|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556351.1_Missense_Mutation_p.D28A|LYRM5_ENST00000556927.1_Missense_Mutation_p.D28A	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	30						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			AAAGGAGCAGACTATTTTAAA	0.303																																					p.D30A		Atlas-SNP	.											.	LYRM5	10	.	0			c.A89C						PASS	.						28	25	26					12																	25357062		1786	4064	5850	SO:0001583	missense	144363	exon3			GAGCAGACTATTT	AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"LYR motif containing"	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.89A>C	12.37:g.25357062A>C	ENSP00000370761:p.Asp30Ala	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	194	26	0.134021	NM_001001660	J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	CCDS53764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.182|8.182	0.794003|0.794003	0.16327|0.16327	.|.	.|.	ENSG00000205707|ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927;ENST00000556198|ENST00000555711	T;T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32;-0.32|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.179966|.	0.64402|.	D|.	0.000015|.	T|T	0.61451|0.61451	0.2348|0.2348	.|.	.|.	.|.	0.48135|0.48135	D|D	0.999595|0.999595	B;B|.	0.17268|.	0.001;0.021|.	B;B|.	0.18561|.	0.009;0.022|.	T|T	0.60954|0.60954	-0.7160|-0.7160	9|4	0.19590|.	T|.	0.45|.	.|.	9.8919|9.8919	0.41296|0.41296	0.9246:0.0:0.0753:0.0|0.9246:0.0:0.0753:0.0	.|.	28;28|.	Q6IPR1;G3V521|.	LYRM5_HUMAN;.|.	A|S	28;30;28;28;28;28|36	ENSP00000450584:D28A;ENSP00000370761:D30A;ENSP00000451494:D28A;ENSP00000452146:D28A;ENSP00000450443:D28A|.	ENSP00000370761:D30A|.	D|R	+|+	2|3	0|2	LYRM5|LYRM5	25248329|25248329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.399000|4.399000	0.59703|0.59703	2.239000|2.239000	0.73571|0.73571	0.533000|0.533000	0.62120|0.62120	GAC|AGA	.	.	none		0.303	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660		C	25357062	A	C	25357062	3	2	9	1	0	0	0	0	1	0	0	0	9122	275	10	5	95	5	LYRM5	12	25357062	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	6865691	25357062	108494833	76	1802										
MLL2	8085	hgsc.bcm.edu	37	chr12	49436376	49436377	+	Frame_Shift_Ins	INS	-	-	G													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	acggggactggcagaggcctINSgggtaggagtccattgggct							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:49436376_49436377insG	ENST00000301067.7	-	27	5833_5834	c.5834_5835insC	c.(5833-5835)ccafs	p.P1945fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1945					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAGAGGCCTGGGTAGGAGTC	0.559																																					p.P1945fs		Atlas-Indel	.											.	MLL2	1173	.	0			c.5835_5836insC						PASS	.																																			SO:0001589	frameshift_variant	8085	exon27			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5835dupC	12.37:g.49436379_49436379dupG	ENSP00000301067:p.Pro1945fs	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	66	11	0.166667	NM_003482	O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.559	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49436377	-	G	49436376	7	5	9	1	0	1	1	0	0	0	0	0	9621	1567	55	0	10890	0	MLL2	12	49436376	Frame_Shift_Ins	INS	-	TCGA-FA-A86F-01A-11D-A382-10	24079314	49436376	84415519	77	1803										
BTG1	694	hgsc.bcm.edu	37	chr12	92539203	92539203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gctctggctgaaggtctgcaGctgtcgctcgctcgtgagcc	14	13	2	2	rs369374957		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:92539203G>A	ENST00000256015.3	-	1	470	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	37					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.L37L(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				AAGGTCTGCAGCTGTCGCTCG	0.677			T	MYC	BCLL																																p.L37L		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	BTG1,NS,lymphoid_neoplasm,0,3	BTG1	30	3	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C109T						PASS	.						38	41	40					12																	92539203		2203	4300	6503	SO:0001819	synonymous_variant	694	exon1			TCTGCAGCTGTCG		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.109C>T	12.37:g.92539203G>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	181	8	0.0441989	NM_001731	P31607	Silent	SNP	ENST00000256015.3	37	CCDS9043.1																																																																																			.	.	alt		0.677	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92539203	G	A	92539203	2	1	9	1	0	0	0	0	0	0	0	1	1553	962	34	2		2	BTG1	12	92539203	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	43102827	92539203	41312692	78	1804										
NAA25	80018	hgsc.bcm.edu	37	chr12	112516526	112516526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	acattgtttttgagaggtttTcatcctgtgccgatatagac	9	7	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr12:112516526T>C	ENST00000261745.4	-	6	745	c.497A>G	c.(496-498)gAa>gGa	p.E166G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	166						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGAGAGGTTTTCATCCTGTGC	0.373																																					p.E166G		Atlas-SNP	.											.	NAA25	105	.	0			c.A497G						PASS	.						150	136	141					12																	112516526		2203	4300	6503	SO:0001583	missense	80018	exon6			AGGTTTTCATCCT	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.497A>G	12.37:g.112516526T>C	ENSP00000261745:p.Glu166Gly	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	153	10	0.0653595	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.661054|4.661054	0.88154|0.88154	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000261745|ENST00000547133	T|.	0.26223|.	1.75|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55609|.	0.1931|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.69307|.	0.963;0.963|.	T|.	0.51694|.	-0.8673|.	10|.	0.44086|.	T|.	0.13|.	-17.6823|-17.6823	16.5932|16.5932	0.84781|0.84781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	166;166|.	A8K8X0;Q14CX7|.	.;NAA25_HUMAN|.	G|W	166|127	ENSP00000261745:E166G|.	ENSP00000261745:E166G|.	E|X	-|-	2|3	0|0	NAA25|NAA25	111000909|111000909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.454000|7.454000	0.80714|0.80714	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	GAA|TGA	.	.	none		0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		C	112516526	T	C	112516526	3	2	9	1	0	0	0	0	1	0	0	0	10121	1783	62	2	2497	2	NAA25	12	112516526	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	19977323	112516526	21335369	79	1805										
NBEA	26960	hgsc.bcm.edu	37	chr13	35729913	35729913	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aaattcttcatttttcagatCttgacagaacaagtatgtac	5	7	4	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr13:35729913C>A	ENST00000400445.3	+	19	2982	c.2448C>A	c.(2446-2448)atC>atA	p.I816I	NBEA_ENST00000540320.1_Silent_p.I816I|NBEA_ENST00000310336.4_Silent_p.I816I|NBEA_ENST00000379939.2_Silent_p.I816I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	816					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTTCAGATCTTGACAGAAC	0.323																																					p.I816I		Atlas-SNP	.											.	NBEA	340	.	0			c.C2448A						PASS	.						92	86	88					13																	35729913		1846	4092	5938	SO:0001819	synonymous_variant	26960	exon19			TCAGATCTTGACA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2448C>A	13.37:g.35729913C>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	64	9	0.140625	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																			.	.	none		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	35729913	C	A	35729913	2	1	9	1	0	0	0	0	0	0	0	1	10187	903	32	4		4	NBEA	13	35729913	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10		35729913	79439965	80	1806										
SMAD9	4093	hgsc.bcm.edu	37	chr13	37453460	37453460	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gtaagggttaatgcacacttCtttctgcttggagccaaatg	10	8	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr13:37453460C>T	ENST00000399275.2	-	1	506	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.E123K|SMAD9_ENST00000350148.5_Missense_Mutation_p.E123K			O15198	SMAD9_HUMAN	SMAD family member 9	123	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATGCACACTTCTTTCTGCTTG	0.557																																					p.E123K		Atlas-SNP	.											.	SMAD9	91	.	0			c.G367A						PASS	.						38	41	40					13																	37453460		2202	4300	6502	SO:0001583	missense	4093	exon2			ACACTTCTTTCTG		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.367G>A	13.37:g.37453460C>T	ENSP00000382216:p.Glu123Lys	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	52	6	0.115385	NM_005905	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715825	0.89112	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.77098	-1.07;-1.07;-1.07	5.47	5.47	0.80525	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.092522	0.64402	D	0.000001	D	0.87481	0.6188	M	0.85859	2.78	0.80722	D	1	B;D	0.53745	0.408;0.962	B;P	0.56216	0.138;0.794	D	0.89288	0.3617	10	0.72032	D	0.01	.	18.3033	0.90171	0.0:1.0:0.0:0.0	.	123;123	O15198-2;O15198	.;SMAD9_HUMAN	K	123	ENSP00000382216:E123K;ENSP00000239885:E123K;ENSP00000369154:E123K	ENSP00000239885:E123K	E	-	1	0	SMAD9	36351460	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.565000	0.86533	0.514000	0.50259	GAA	.	.	none		0.557	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		T	37453460	C	T	37453460	3	4	9	1	0	0	0	0	1	0	0	0	14764	922	32	2	1060	2	SMAD9	13	37453460	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	1723547	37453460	77716418	81	1807										
PCDH17	27253	hgsc.bcm.edu	37	chr13	58209024	58209024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aggagaggaacgccatgaacGtcatgaacgtggtgagcagc	15	8	1	4			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr13:58209024G>A	ENST00000377918.3	+	1	2370	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	782					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCCATGAACGTCATGAACGT	0.597																																					p.V782I	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.G2344A						PASS	.						106	99	102					13																	58209024		2203	4300	6503	SO:0001583	missense	27253	exon1			ATGAACGTCATGA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2344G>A	13.37:g.58209024G>A	ENSP00000367151:p.Val782Ile	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	41	5	0.121951	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976644	0.34848	.	.	ENSG00000118946	ENST00000377918	T	0.53640	0.61	5.21	5.21	0.72293	.	0.055010	0.64402	D	0.000001	T	0.40272	0.1110	L	0.36672	1.1	0.46131	D	0.998881	B;B	0.23442	0.085;0.051	B;B	0.18263	0.021;0.011	T	0.15292	-1.0442	9	.	.	.	.	18.9482	0.92630	0.0:0.0:1.0:0.0	.	782;782	O14917-2;O14917	.;PCD17_HUMAN	I	782	ENSP00000367151:V782I	.	V	+	1	0	PCDH17	57107025	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.708000	0.92522	0.467000	0.42956	GTC	.	.	none		0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58209024	G	A	58209024	3	1	9	1	0	0	0	0	1	0	0	0	11512	1145	40	1	2346	1	PCDH17	13	58209024	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	20755564	58209024	56960854	82	1808										
F7	2155	hgsc.bcm.edu	37	chr13	113773002	113773002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ccctggagctcatggtcctcAacgtgccccggctgatgacc	11	16	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr13:113773002A>G	ENST00000375581.3	+	9	1116	c.1081A>G	c.(1081-1083)Aac>Gac	p.N361D	F7_ENST00000541084.1_Missense_Mutation_p.N292D|F7_ENST00000346342.3_Missense_Mutation_p.N339D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	361	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CATGGTCCTCAACGTGCCCCG	0.632																																					p.N361D		Atlas-SNP	.											.	F7	49	.	0			c.A1081G						PASS	.						33	32	32					13																	113773002		2202	4298	6500	SO:0001583	missense	2155	exon9			GTCCTCAACGTGC		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1081A>G	13.37:g.113773002A>G	ENSP00000364731:p.Asn361Asp	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	100	22	0.22	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	A	0.753	-0.772186	0.02951	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88741	-2.42;-2.42;-2.42	4.17	-1.31	0.09230	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.595590	0.03454	N	0.211073	T	0.76521	0.3999	N	0.04820	-0.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.63305	-0.6667	10	0.24483	T	0.36	.	8.5642	0.33530	0.2473:0.4789:0.2738:0.0	.	292;339;361	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	D	339;292;361	ENSP00000329546:N339D;ENSP00000442051:N292D;ENSP00000364731:N361D	ENSP00000329546:N339D	N	+	1	0	F7	112821003	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	0.407000	0.21049	-0.234000	0.09782	0.383000	0.25322	AAC	.	.	none		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		G	113773002	A	G	113773002	3	3	9	1	0	0	0	0	1	0	0	0	5349	130	5	2	1115	2	F7	13	113773002	Missense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	55563978	113773002	1396876	83	1809										
NPAS3	64067	hgsc.bcm.edu	37	chr14	34270175	34270175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgtcaggaccgttcggcggcGcagtgagcgcagctagcctg	16	12	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr14:34270175G>A	ENST00000356141.4	+	12	2662	c.2662G>A	c.(2662-2664)Gca>Aca	p.A888T	NPAS3_ENST00000551492.1_Missense_Mutation_p.A893T|NPAS3_ENST00000346562.2_Missense_Mutation_p.A856T|NPAS3_ENST00000548645.1_Missense_Mutation_p.A858T|NPAS3_ENST00000357798.5_Missense_Mutation_p.A875T			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	888					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTCGGCGGCGCAGTGAGCGC	0.652																																					p.A888T		Atlas-SNP	.											.	NPAS3	266	.	0			c.G2662A						PASS	.						31	20	24					14																	34270175		2201	4289	6490	SO:0001583	missense	64067	exon12			GGCGGCGCAGTGA	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2662G>A	14.37:g.34270175G>A	ENSP00000348460:p.Ala888Thr	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	7	0.127273	NM_001164749	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414758	0.11870	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.08458	3.35;3.22;3.23;3.23;3.22;3.09	5.68	3.85	0.44370	.	0.169134	0.52532	N	0.000071	T	0.06508	0.0167	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.15719	0.014;0.008;0.014;0.014	B;B;B;B	0.11329	0.006;0.003;0.006;0.006	T	0.23119	-1.0197	10	0.59425	D	0.04	.	11.8985	0.52669	0.1404:0.0:0.8595:0.0	.	858;888;856;875	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	T	862;893;856;858;888;875	ENSP00000448373:A862T;ENSP00000450392:A893T;ENSP00000319610:A856T;ENSP00000448916:A858T;ENSP00000348460:A888T;ENSP00000350446:A875T	ENSP00000319610:A856T	A	+	1	0	NPAS3	33339926	1.000000	0.71417	0.869000	0.34112	0.006000	0.05464	5.397000	0.66302	1.398000	0.46701	-0.300000	0.09419	GCA	.	.	none		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			A	34270175	G	A	34270175	3	1	9	1	0	0	0	0	1	0	0	0	10564	1087	38	1	2763	1	NPAS3	14	34270175	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		34270175	73079365	84	1810										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411852	105411852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctgtacgacggcatcttgaaTttgggcattttgaacttgct	10	8	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr14:105411852T>C	ENST00000333244.5	-	7	10055	c.9936A>G	c.(9934-9936)aaA>aaG	p.K3312K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3312						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAATTTGGGCATTT	0.622																																					p.K3312K		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,1	AHNAK2	719	1	0			c.A9936G						scavenged	.						205	199	201					14																	105411852		2003	4164	6167	SO:0001819	synonymous_variant	113146	exon7			CTTGAATTTGGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9936A>G	14.37:g.105411852T>C		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411852	T	C	105411852	2	2	9	1	0	0	0	0	0	0	0	1	415	1490	52	2		2	AHNAK2	14	105411852	Silent	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	71141677	105411852	1937688	85	1811										
CTSH	1512	hgsc.bcm.edu	37	chr15	79221796	79221797	+	Frame_Shift_Ins	INS	-	-	T													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cttcacccatgatccccttgINSttgtacaggatatactcgaa							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr15:79221796_79221797insT	ENST00000220166.5	-	8	696_697	c.587_588insA	c.(586-588)aacfs	p.N196fs	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	196					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGATCCCCTTGTTGTACAGGAT	0.579																																					p.N196fs		Atlas-Indel	.											.	CTSH	23	.	0			c.588_589insA						PASS	.																																			SO:0001589	frameshift_variant	1512	exon8			.	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.588dupA	15.37:g.79221798_79221798dupT	ENSP00000220166:p.Asn196fs	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	129	12	0.0930233	NM_004390	B2RBK0|Q96NY6|Q9BUM7	Frame_Shift_Ins	INS	ENST00000220166.5	37	CCDS10308.1																																																																																			.	.	none		0.579	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		T	79221797	-	T	79221796	7	5	9	1	0	1	1	0	0	0	0	0	4036	1368	48	0	439	0	CTSH	15	79221796	Frame_Shift_Ins	INS	-	TCGA-FA-A86F-01A-11D-A382-10		79221796	23309596	86	1812										
ITPRIPL2	162073	hgsc.bcm.edu	37	chr16	19126812	19126812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctccctgagggcctgcgtgcGgaggcactgtggggtgtgaa	18	10	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr16:19126812G>A	ENST00000381440.3	+	1	1559	c.1029G>A	c.(1027-1029)gcG>gcA	p.A343A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	343						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTGCGTGCGGAGGCACTGT	0.667																																					p.A343A		Atlas-SNP	.											.	ITPRIPL2	40	.	0			c.G1029A						PASS	.						32	36	35					16																	19126812		2197	4300	6497	SO:0001819	synonymous_variant	162073	exon1			GCGTGCGGAGGCA		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1029G>A	16.37:g.19126812G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	44	4	0.0909091	NM_001034841		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																			.	.	none		0.667	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		A	19126812	G	A	19126812	2	1	9	1	0	0	0	0	0	0	0	1	7925	1103	39	1		1	ITPRIPL2	16	19126812	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		19126812	71227941	87	1813										
CDH11	1009	hgsc.bcm.edu	37	chr16	64981740	64981740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgtattctcgtgttgatgaaGtcatcgacatccacgctgtt	9	9	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr16:64981740G>T	ENST00000268603.4	-	13	2772	c.2157C>A	c.(2155-2157)gaC>gaA	p.D719E	CDH11_ENST00000566827.1_Missense_Mutation_p.D593E|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	719					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTGATGAAGTCATCGACAT	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.D719E		Atlas-SNP	.		Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	.	CDH11	260	.	0			c.C2157A						PASS	.						120	110	114					16																	64981740		2203	4300	6503	SO:0001583	missense	1009	exon13			GATGAAGTCATCG	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2157C>A	16.37:g.64981740G>T	ENSP00000268603:p.Asp719Glu	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	162	15	0.0925926	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685808	0.14973	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.76709	-1.04	6.02	2.6	0.31112	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.05012	-0.13	0.48135	D	0.999594	B	0.13594	0.008	B	0.24006	0.05	T	0.39961	-0.9588	10	0.18276	T	0.48	.	9.6097	0.39654	0.3055:0.0:0.6945:0.0	.	719	P55287	CAD11_HUMAN	E	719;702	ENSP00000268603:D719E	ENSP00000268603:D719E	D	-	3	2	CDH11	63539241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.451000	0.52964	0.890000	0.36211	0.655000	0.94253	GAC	.	.	none		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		T	64981740	G	T	64981740	3	4	9	1	0	0	0	0	1	0	0	0	3097	1020	36	4	237	4	CDH11	16	64981740	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	45854928	64981740	25373013	88	1814										
CDH3	1001	hgsc.bcm.edu	37	chr16	68716273	68716273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctgacggtcactgatctggaCgcccccaactcaccagcgtg	10	16	3	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr16:68716273C>T	ENST00000264012.4	+	9	1609	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CDH3_ENST00000581171.1_Silent_p.D300D|CDH3_ENST00000429102.2_Silent_p.D355D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTGATCTGGACGCCCCCAACT	0.592																																					p.D355D		Atlas-SNP	.											.	CDH3	68	.	2	Unknown(2)	breast(2)	c.C1065T						PASS	.						102	73	83					16																	68716273		2198	4300	6498	SO:0001819	synonymous_variant	1001	exon9			TCTGGACGCCCCC	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1065C>T	16.37:g.68716273C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	8	0.126984	NM_001793	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	CCDS10868.1																																																																																			.	.	none		0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		T	68716273	C	T	68716273	2	4	9	1	0	0	0	0	0	0	0	1	3111	535	19	1		1	CDH3	16	68716273	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	3734533	68716273	21638480	89	1815										
KLHDC4	54758	hgsc.bcm.edu	37	chr16	87748161	87748161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgagtgccgtgtgcccttgtCcacgtctttcttaactctct	8	13	3	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr16:87748161C>T	ENST00000270583.5	-	8	836	c.778G>A	c.(778-780)Gac>Aac	p.D260N	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.D229N|KLHDC4_ENST00000353170.5_Missense_Mutation_p.D203N	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	260										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTGCCCTTGTCCACGTCTTTC	0.567																																					p.D260N		Atlas-SNP	.											.	KLHDC4	45	.	0			c.G778A						PASS	.						231	191	204					16																	87748161		2198	4300	6498	SO:0001583	missense	54758	exon8			CCTTGTCCACGTC	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.778G>A	16.37:g.87748161C>T	ENSP00000270583:p.Asp260Asn	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	138	7	0.0507246	NM_017566	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812535	0.70912	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.67698	-0.28;-0.28;-0.28	5.21	5.21	0.72293	Kelch-type beta propeller (1);	0.093608	0.64402	D	0.000001	D	0.84293	0.5440	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.992	D;D;D;D	0.78314	0.991;0.991;0.971;0.925	D	0.85106	0.0960	10	0.38643	T	0.18	-18.2028	17.7521	0.88438	0.0:1.0:0.0:0.0	.	79;203;229;260	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	N	260;79;229;203	ENSP00000270583:D260N;ENSP00000325717:D229N;ENSP00000262530:D203N	ENSP00000270583:D260N	D	-	1	0	KLHDC4	86305662	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	7.012000	0.76366	2.427000	0.82271	0.561000	0.74099	GAC	.	.	none		0.567	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		T	87748161	C	T	87748161	3	4	9	1	0	0	0	0	1	0	0	0	8358	855	30	2	800	2	KLHDC4	16	87748161	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	19031888	87748161	2606592	90	1816										
PYY	5697	hgsc.bcm.edu	37	chr17	42030694	42030694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tgaccaggttgaggtagtggCgcagggaggcgtagtagcgg	20	6	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr17:42030694C>T	ENST00000360085.2	-	5	698	c.158G>A	c.(157-159)cGc>cAc	p.R53H	PYY_ENST00000592796.1_Missense_Mutation_p.R53H	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	53					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GAGGTAGTGGCGCAGGGAGGC	0.726																																					p.R53H		Atlas-SNP	.											.	PYY	11	.	0			c.G158A						PASS	.						17	19	19					17																	42030694		2200	4297	6497	SO:0001583	missense	5697	exon5			TAGTGGCGCAGGG		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.158G>A	17.37:g.42030694C>T	ENSP00000353198:p.Arg53His	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	178	13	0.0730337	NM_004160	Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	35	5.542943	0.96474	.	.	ENSG00000131096	ENST00000360085	T	0.52983	0.64	4.64	4.64	0.57946	Pancreatic hormone-like, conserved site (1);	.	.	.	.	T	0.67804	0.2932	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.72673	-0.4222	8	0.87932	D	0	-1.6458	12.9887	0.58606	0.0:1.0:0.0:0.0	.	53	P10082	PYY_HUMAN	H	53	ENSP00000353198:R53H	ENSP00000353198:R53H	R	-	2	0	PYY	39386220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.109000	0.64355	0.549000	0.68633	CGC	.	.	none		0.726	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160		T	42030694	C	T	42030694	3	4	9	1	0	0	0	0	1	0	0	0	12868	768	27	1	147	1	PYY	17	42030694	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10		42030694	39164516	91	1817										
DLX4	1748	hgsc.bcm.edu	37	chr17	48051195	48051195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctccccacccctcccctcccTctgggatctacccaaggcag	6	22	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr17:48051195T>C	ENST00000240306.3	+	3	906	c.611T>C	c.(610-612)cTc>cCc	p.L204P	DLX4_ENST00000411890.2_Missense_Mutation_p.L132P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	204					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCCCCTCCCTCTGGGATCTA	0.592																																					p.L204P		Atlas-SNP	.											.	DLX4	25	.	0			c.T611C						PASS	.						57	61	60					17																	48051195		2203	4300	6503	SO:0001583	missense	1748	exon3			CCTCCCTCTGGGA		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.611T>C	17.37:g.48051195T>C	ENSP00000240306:p.Leu204Pro	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	70	11	0.157143	NM_138281	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633462	0.29068	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.93189	-2.97;-3.18	5.14	2.91	0.33838	.	.	.	.	.	D	0.94318	0.8174	L	0.60455	1.87	0.32491	N	0.540234	D;B	0.60160	0.987;0.001	P;B	0.62649	0.905;0.0	D	0.92773	0.6234	9	0.54805	T	0.06	-12.0893	8.3009	0.32014	0.0:0.1652:0.0:0.8348	.	132;204	Q92988-2;Q92988	.;DLX4_HUMAN	P	204;132	ENSP00000240306:L204P;ENSP00000410622:L132P	ENSP00000240306:L204P	L	+	2	0	DLX4	45406194	0.443000	0.25641	0.650000	0.29550	0.931000	0.56810	3.111000	0.50360	0.406000	0.25560	-0.411000	0.06167	CTC	.	.	none		0.592	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			C	48051195	T	C	48051195	3	2	9	1	0	0	0	0	1	0	0	0	4573	1551	54	3	688	3	DLX4	17	48051195	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10	6020501	48051195	33144015	92	1818										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3089200	3089200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tcaatagtacattacattcaCcagtcacttcccagctcaaa	3	13	4	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr18:3089200C>A	ENST00000356443.4	-	29	4442	c.4109G>T	c.(4108-4110)gGt>gTt	p.G1370V	MYOM1_ENST00000400569.3_Missense_Mutation_p.G1370V|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1274V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1370	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTACATTCACCAGTCACTTC	0.308																																					p.G1370V		Atlas-SNP	.											.	MYOM1	192	.	0			c.G4109T						PASS	.						80	74	76					18																	3089200		1820	4083	5903	SO:0001583	missense	8736	exon29			CATTCACCAGTCA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4109G>T	18.37:g.3089200C>A	ENSP00000348821:p.Gly1370Val	Somatic	492	0	0		WXS	Illumina HiSeq	Phase_I	316	52	0.164557	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980320	0.34942	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.70399	-0.48;-0.48;-0.48	5.98	4.19	0.49359	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528555	0.22207	N	0.063145	T	0.48187	0.1486	N	0.08118	0	0.53688	D	0.999972	B;B	0.25235	0.099;0.121	B;B	0.31191	0.076;0.125	T	0.33777	-0.9855	10	0.33141	T	0.24	.	5.6992	0.17873	0.0:0.5235:0.2513:0.2252	.	1274;1370	P52179-2;P52179	.;MYOM1_HUMAN	V	1370;1370;1274	ENSP00000348821:G1370V;ENSP00000383413:G1370V;ENSP00000261606:G1274V	ENSP00000261606:G1274V	G	-	2	0	MYOM1	3079200	0.943000	0.32029	0.999000	0.59377	0.996000	0.88848	1.552000	0.36244	0.851000	0.35264	0.591000	0.81541	GGT	.	.	none		0.308	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3089200	C	A	3089200	3	1	9	1	0	0	0	0	1	0	0	0	10091	507	18	4	988	4	MYOM1	18	3089200	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10		3089200	74988048	93	1819										
NDUFV2	4729	hgsc.bcm.edu	37	chr18	9122638	9122638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tactacaccctgcatgcttcGaaactctgacagcatactgg	7	13	1	1	rs148158107	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr18:9122638G>C	ENST00000318388.6	+	5	542	c.428G>C	c.(427-429)cGa>cCa	p.R143P	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000400033.1_Missense_Mutation_p.R146P|RP11-143J12.2_ENST00000582375.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	143					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R143P(1)		breast(1)|lung(4)|ovary(1)|stomach(1)	7						TGCATGCTTCGAAACTCTGAC	0.373																																					p.R143P		Atlas-SNP	.											NDUFV2,colon,carcinoma,+1,3	NDUFV2	17	3	1	Substitution - Missense(1)	stomach(1)	c.G428C						scavenged	.						101	90	94					18																	9122638		2203	4300	6503	SO:0001583	missense	4729	exon5			TGCTTCGAAACTC	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.428G>C	18.37:g.9122638G>C	ENSP00000327268:p.Arg143Pro	Somatic	199	10	0.0502513		WXS	Illumina HiSeq	Phase_I	139	9	0.0647482	NM_021074	Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399441	0.83120	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.49720	0.78;0.77	5.93	5.93	0.95920	Thioredoxin-like fold (2);	0.054528	0.85682	D	0.000000	T	0.78272	0.4257	H	0.95611	3.695	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	T	0.79412	-0.1814	10	0.29301	T	0.29	-4.6044	20.3397	0.98756	0.0:0.0:1.0:0.0	.	143	P19404	NDUV2_HUMAN	P	143;146	ENSP00000327268:R143P;ENSP00000382908:R146P	ENSP00000327268:R143P	R	+	2	0	NDUFV2	9112638	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	CGA	G|0.996;C|0.005	0.005	strong		0.373	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		C	9122638	G	C	9122638	3	2	9	1	0	0	0	0	1	0	0	0	10300	1058	37	4	446	4	NDUFV2	18	9122638	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	6033438	9122638	68954610	94	1820										
PTBP1	5725	hgsc.bcm.edu	37	chr19	804886	804886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ccttcaccaagaacaaccagTtccaggccctgctgcagtat	7	15	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:804886T>C	ENST00000349038.4	+	7	737	c.664T>C	c.(664-666)Ttc>Ctc	p.F222L	PTBP1_ENST00000356948.6_Missense_Mutation_p.F222L|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.F222L	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	222	RRM 2. {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)		GAACAACCAGTTCCAGGCCCT	0.662																																					p.F222L		Atlas-SNP	.											PTBP1,larynx,carcinoma,-2,1	PTBP1	43	1	0			c.T664C						scavenged	.						100	90	94					19																	804886		2203	4300	6503	SO:0001583	missense	5725	exon7			AACCAGTTCCAGG	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.664T>C	19.37:g.804886T>C	ENSP00000014112:p.Phe222Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	63	3	0.047619	NM_031990	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.851512	0.91355	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50548	0.74;0.77;1.06	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.207707	0.51477	D	0.000096	T	0.63838	0.2545	L	0.53561	1.675	0.80722	D	1	D;D;P	0.89917	1.0;0.964;0.923	D;P;P	0.83275	0.996;0.884;0.856	T	0.67241	-0.5720	10	0.87932	D	0	-30.2985	14.045	0.64700	0.0:0.0:0.0:1.0	.	222;222;222	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	L	222	ENSP00000349428:F222L;ENSP00000408096:F222L;ENSP00000014112:F222L	ENSP00000014112:F222L	F	+	1	0	PTBP1	755886	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.904000	0.87408	1.915000	0.55452	0.460000	0.39030	TTC	.	.	none		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			C	804886	T	C	804886	3	2	9	1	0	0	0	0	1	0	0	0	12725	1725	60	2	690	2	PTBP1	19	804886	Missense_Mutation	SNP	T	TCGA-FA-A86F-01A-11D-A382-10		804886	58324097	95	1821										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31768074	31768074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcctcctccagagtggccccGtcaatgtcagacttctcgga	10	15	3	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:31768074G>A	ENST00000240587.4	-	2	2952	c.2625C>T	c.(2623-2625)gaC>gaT	p.D875D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	875					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGTGGCCCCGTCAATGTCAG	0.572																																					p.D875D		Atlas-SNP	.											.	TSHZ3	549	.	0			c.C2625T						PASS	.						70	65	66					19																	31768074		2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			GGCCCCGTCAATG	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2625C>T	19.37:g.31768074G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	90	19	0.211111	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			.	.	none		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31768074	G	A	31768074	2	1	9	1	0	0	0	0	0	0	0	1	16622	1136	40	1		1	TSHZ3	19	31768074	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	30963188	31768074	27360909	96	1822										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41628014	41628014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tctccccgggacttcatccaGtgcttcctcaccaagatggc	8	16	3	1	rs75405062		TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:41628014G>C	ENST00000331105.2	+	6	870	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	266			Q -> H (in allele CYP2F1*3). {ECO:0000269|PubMed:11827709}.		naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACTTCATCCAGTGCTTCCTCA	0.572																																					p.Q266H		Atlas-SNP	.											CYP2F1,NS,carcinoma,+2,1	CYP2F1	60	1	0			c.G798C						scavenged	.	C	HIS/GLN	162,3888		1,160,1864	50	48	48		798	-4.7	0.4	19	dbSNP_132	48	113,8171		0,113,4029	no	missense	CYP2F1	NM_000774.3	24	1,273,5893	CC,CG,GG		1.3641,4.0,2.2296	benign	266/492	41628014	275,12059	2025	4142	6167	SO:0001583	missense	1572	exon6			CATCCAGTGCTTC	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.798G>C	19.37:g.41628014G>C	ENSP00000333534:p.Gln266His	Somatic	41	11	0.268293		WXS	Illumina HiSeq	Phase_I	34	7	0.205882	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	449	0.20558608058608058	107	0.21747967479674796	82	0.2265193370165746	109	0.19055944055944055	151	0.19920844327176782	N	5.932	0.355925	0.11239	0.04	0.013641	ENSG00000197446	ENST00000331105	T	0.12569	2.67	3.27	-4.65	0.03339	.	0.052380	0.64402	U	0.000001	T	0.00012	0.0000	N	0.02247	-0.625	0.51767	P	6.20000000000065E-5	D;B;B	0.64830	0.994;0.227;0.021	P;B;B	0.59595	0.86;0.017;0.007	T	0.42310	-0.9459	9	0.87932	D	0	.	8.662	0.34099	0.0:0.6997:0.1315:0.1688	.	52;266;266	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	H	266	ENSP00000333534:Q266H	ENSP00000333534:Q266H	Q	+	3	2	CYP2F1	46319854	0.006000	0.16342	0.412000	0.26496	0.011000	0.07611	0.096000	0.15147	-1.780000	0.01279	-2.252000	0.00282	CAG	G|0.250;C|0.750	0.750	weak		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			C	41628014	G	C	41628014	3	2	9	1	0	0	0	0	1	0	0	0	4171	1020	36	4	816	4	CYP2F1	19	41628014	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	9859940	41628014	17500969	97	1823										
PSG1	5669	hgsc.bcm.edu	37	chr19	43382402	43382402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	atcgtgacttgggcagtggtGggcaggttccagaagtttaa	15	6	0	2	rs17423717	byFrequency	TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:43382402G>A	ENST00000436291.2	-	2	209	c.93C>T	c.(91-93)ccC>ccT	p.P31P	PSG1_ENST00000403380.3_Silent_p.P31P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Silent_p.P31P|PSG1_ENST00000312439.6_Silent_p.P31P|PSG1_ENST00000595356.1_Silent_p.P31P|PSG1_ENST00000244296.2_Silent_p.P31P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	31					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGGCAGTGGTGGGCAGGTTCC	0.493													.|||	52	0.0103834	0.0212	0.0072	5008	,	,		19198	0.005		0.002	False		,,,				2504	0.0123				p.P31P		Atlas-SNP	.											PSG1_ENST00000312439,NS,carcinoma,-1,4	PSG1	196	4	0			c.C93T						scavenged	.						142	154	150					19																	43382402		2203	4299	6502	SO:0001819	synonymous_variant	5669	exon2			AGTGGTGGGCAGG		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.93C>T	19.37:g.43382402G>A		Somatic	159	2	0.0125786		WXS	Illumina HiSeq	Phase_I	114	7	0.0614035	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																			G|0.996;A|0.004	0.004	strong		0.493	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43382402	G	A	43382402	2	1	9	1	0	0	0	0	0	0	0	1	12653	1335	47	2		2	PSG1	19	43382402	Silent	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	1754388	43382402	15746581	98	1824										
KCNN4	3783	hgsc.bcm.edu	37	chr19	44278489	44278489	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	attgagagcgccgatgctgcGgtaggaagcgttgagcagga	17	7	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:44278489G>C	ENST00000262888.3	-	3	933	c.538C>G	c.(538-540)Cgc>Ggc	p.R180G		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	180					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCGATGCTGCGGTAGGAAGCG	0.662											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R180G		Atlas-SNP	.											.	KCNN4	37	.	0			c.C538G						PASS	.						27	25	26					19																	44278489		2196	4300	6496	SO:0001583	missense	3783	exon3			TGCTGCGGTAGGA	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.538C>G	19.37:g.44278489G>C	ENSP00000262888:p.Arg180Gly	Somatic	119	0	0	922	WXS	Illumina HiSeq	Phase_I	98	11	0.112245	NM_002250	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628785	0.67015	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99896	-7.6	4.38	3.33	0.38152	.	0.053759	0.64402	D	0.000002	D	0.99789	0.9911	M	0.74467	2.265	0.50039	D	0.999843	D;D	0.89917	0.98;1.0	P;D	0.87578	0.67;0.998	D	0.98041	1.0382	10	0.87932	D	0	-21.927	5.9886	0.19448	0.1001:0.0:0.7138:0.1861	.	74;180	D1MQ10;O15554	.;KCNN4_HUMAN	G	180;48	ENSP00000262888:R180G	ENSP00000262888:R180G	R	-	1	0	KCNN4	48970329	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.516000	0.45520	0.972000	0.38314	-0.300000	0.09419	CGC	.	.	none		0.662	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		C	44278489	G	C	44278489	3	2	9	1	0	0	0	0	1	0	0	0	8081	1116	39	4	769	4	KCNN4	19	44278489	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	896087	44278489	14850494	99	1825										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52877609	52877609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ggagcaaaggagagatccccGgaatctgcagagtgaagtga	15	7	1	4			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:52877609G>A	ENST00000422689.2	+	3	212	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	ZNF880_ENST00000600321.1_Missense_Mutation_p.R66Q|ZNF880_ENST00000344085.5_Missense_Mutation_p.R66Q|ZNF880_ENST00000424032.2_Missense_Mutation_p.R66Q|ZNF880_ENST00000597976.1_Missense_Mutation_p.R66Q	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGAGATCCCCGGAATCTGCAG	0.458																																					p.R66Q		Atlas-SNP	.											.	ZNF880	45	.	0			c.G197A						PASS	.						79	71	73					19																	52877609		692	1591	2283	SO:0001583	missense	400713	exon3			ATCCCCGGAATCT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.197G>A	19.37:g.52877609G>A	ENSP00000406318:p.Arg66Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	138	13	0.0942029	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	G	4.337	0.061871	0.08339	.	.	ENSG00000221923	ENST00000424032;ENST00000344085;ENST00000422689	T;T;T	0.06294	5.42;5.46;3.32	1.13	0.00405	0.14057	Krueppel-associated box (2);	.	.	.	.	T	0.03305	0.0096	N	0.12527	0.23	0.09310	N	1	B	0.16603	0.018	B	0.01281	0.0	T	0.42015	-0.9476	9	0.54805	T	0.06	.	3.5828	0.07959	0.2752:0.0:0.7248:0.0	.	66	Q6PDB4	ZN880_HUMAN	Q	66	ENSP00000414470:R66Q;ENSP00000343625:R66Q;ENSP00000406318:R66Q	ENSP00000343625:R66Q	R	+	2	0	ZNF880	57569421	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	0.073000	0.14640	0.044000	0.15775	0.448000	0.29417	CGG	.	.	none		0.458	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52877609	G	A	52877609	3	1	9	1	0	0	0	0	1	0	0	0	18194	1116	39	1	207	1	ZNF880	19	52877609	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	8599120	52877609	6251374	100	1826										
PRPF31	26121	hgsc.bcm.edu	37	chr19	54632434	54632434	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gcctcctcttccccctagatCgaggaggacgcctaccagga	10	16	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr19:54632434C>A	ENST00000321030.4	+	12	1498	c.1149C>A	c.(1147-1149)atC>atA	p.I383I	PRPF31_ENST00000391755.1_Silent_p.I377I|PRPF31_ENST00000419967.1_Silent_p.I383I	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	383					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCCTAGATCGAGGAGGACG	0.682																																					p.I383I		Atlas-SNP	.											.	PRPF31	48	.	0			c.C1149A						PASS	.						21	20	21					19																	54632434		2176	4259	6435	SO:0001819	synonymous_variant	26121	exon12			CTAGATCGAGGAG	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.1149C>A	19.37:g.54632434C>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	51	8	0.156863	NM_015629	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	CCDS12879.1																																																																																			.	.	none		0.682	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			A	54632434	C	A	54632434	2	1	9	1	0	0	0	0	0	0	0	1	12566	874	31	4		4	PRPF31	19	54632434	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	1754825	54632434	4496549	101	1827										
E2F1	1869	hgsc.bcm.edu	37	chr20	32267687	32267690	+	Frame_Shift_Del	DEL	CCGT	CCGT	-													0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cccagttcaggtcgacgacaCcgtcagccgagtggctcagc							TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	CCGT	CCGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr20:32267687_32267690delCCGT	ENST00000343380.5	-	3	582_585	c.443_446delACGG	c.(442-447)gacggtfs	p.DG148fs		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	148	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCGACGACACCGTCAGCCGAGTG	0.593																																					p.148_149del		Atlas-Indel	.											.	E2F1	41	.	0			c.444_447del						PASS	.																																			SO:0001589	frameshift_variant	1869	exon3			.		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.443_446delACGG	20.37:g.32267687_32267690delCCGT	ENSP00000345571:p.Asp148fs	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	91	12	0.131868	NM_005225	Q13143|Q92768	Frame_Shift_Del	DEL	ENST00000343380.5	37	CCDS13224.1																																																																																			.	.	none		0.593	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			-	32267690	CCGT	-	32267687	7	5	9	1	0	1	0	1	0	0	0	0	4866	507	18	0	887	0	E2F1	20	32267687	Frame_Shift_Del	DEL	CCGT	TCGA-FA-A86F-01A-11D-A382-10		32267687	30757833	102	1828										
ITCH	83737	hgsc.bcm.edu	37	chr20	32996580	32996580	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	caacacaaacagtcccaagtGgaagcaaccccttacagtgt	7	13	0	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr20:32996580G>A	ENST00000262650.6	+	4	330	c.194G>A	c.(193-195)tGg>tAg	p.W65*	ITCH_ENST00000374864.4_Nonsense_Mutation_p.W65*|ITCH_ENST00000535650.1_Intron			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	65	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTCCCAAGTGGAAGCAACCC	0.353																																					p.W65X		Atlas-SNP	.											.	ITCH	73	.	0			c.G194A						PASS	.						127	117	120					20																	32996580		2203	4300	6503	SO:0001587	stop_gained	83737	exon4			CCAAGTGGAAGCA	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.194G>A	20.37:g.32996580G>A	ENSP00000262650:p.Trp65*	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	105	10	0.0952381	NM_001257137	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	ENST00000262650.6	37	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743412	0.96873	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	.	.	.	5.24	5.24	0.73138	.	0.177655	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4283	0.90617	0.0:0.0:1.0:0.0	.	.	.	.	X	65	.	ENSP00000262650:W65X	W	+	2	0	ITCH	32460241	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.385000	0.97223	2.464000	0.83262	0.655000	0.94253	TGG	.	.	none		0.353	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			A	32996580	G	A	32996580	4	1	9	1	0	0	0	0	0	1	0	0	7868	1357	47	2	200	2	ITCH	20	32996580	Nonsense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	728893	32996580	30028940	103	1829										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45971108	45971108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cagctagactgctggcagcaCgagggcgtgcaggagctggt	17	10	0	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr21:45971108C>T	ENST00000391621.1	-	1	280	c.234G>A	c.(232-234)tcG>tcA	p.S78S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	78	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCTGGCAGCACGAGGGCGTGC	0.687																																					p.S78S		Atlas-SNP	.											KRTAP10-2,caecum,carcinoma,-1,1	KRTAP10-2	21	1	0			c.G234A						scavenged	.						52	56	55					21																	45971108		2202	4293	6495	SO:0001819	synonymous_variant	386679	exon1			GCAGCACGAGGGC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.234G>A	21.37:g.45971108C>T		Somatic	86	3	0.0348837		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_198693	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			.	.	none		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971108	C	T	45971108	2	4	9	1	0	0	0	0	0	0	0	1	8509	523	19	1		1	KRTAP10-2	21	45971108	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10		45971108	2158787	104	1830										
KRTAP10-12	386685	hgsc.bcm.edu	37	chr21	46117576	46117576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gtcaacagtcctgctgtgtgCccgtctgctgcaagcccatc	10	15	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr21:46117576C>T	ENST00000400365.3	+	1	490	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	154	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTGCTGTGTGCCCGTCTGCTG	0.617																																					p.P154S		Atlas-SNP	.											KRTAP10-12,rectum,carcinoma,0,2	KRTAP10-12	21	2	0			c.C460T						scavenged	.						177	182	180					21																	46117576		2203	4300	6503	SO:0001583	missense	386685	exon1			TGTGTGCCCGTCT	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.460C>T	21.37:g.46117576C>T	ENSP00000383216:p.Pro154Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_198699	B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	2.310	-0.358108	0.05138	.	.	ENSG00000189169	ENST00000400365;ENST00000452870	T	0.00648	5.99	3.7	1.73	0.24493	.	.	.	.	.	T	0.00815	0.0027	L	0.49778	1.585	0.09310	N	1	B	0.24963	0.115	B	0.25884	0.064	T	0.44360	-0.9333	9	0.15952	T	0.53	.	10.0177	0.42024	0.3626:0.6374:0.0:0.0	.	154	P60413	KR10C_HUMAN	S	154;62	ENSP00000383216:P154S	ENSP00000383216:P154S	P	+	1	0	KRTAP10-12	44942004	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.087000	0.14958	0.117000	0.18138	0.305000	0.20034	CCC	.	.	none		0.617	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		T	46117576	C	T	46117576	3	4	9	1	0	0	0	0	1	0	0	0	8508	739	26	2	462	2	KRTAP10-12	21	46117576	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	146468	46117576	2012319	105	1831										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230409	23230409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tggagcctcagttggaagcaGccgatccagcctgcggagcc	14	13	1	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr22:23230409G>A	ENST00000526893.1	+	1	450	c.176G>A	c.(175-177)aGc>aAc	p.S59N	IGLL5_ENST00000532223.2_Missense_Mutation_p.S59N|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.S59N	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	59						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GTTGGAAGCAGCCGATCCAGC	0.657																																					p.S59N		Atlas-SNP	.											.	IGLL5	26	.	0			c.G176A						PASS	.																																			SO:0001583	missense	100423062	exon1			GAAGCAGCCGATC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.176G>A	22.37:g.23230409G>A	ENSP00000431254:p.Ser59Asn	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	102	14	0.137255	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267343	0.23136	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00583	6.41;6.41	3.92	-0.797	0.10909	.	.	.	.	.	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.17098	0.017	T	0.45056	-0.9287	9	0.59425	D	0.04	.	3.0635	0.06207	0.2132:0.0:0.4153:0.3715	.	59	B9A064	IGLL5_HUMAN	N	59	ENSP00000436353:S59N;ENSP00000431254:S59N	ENSP00000431254:S59N	S	+	2	0	IGLL5	21560409	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.100000	0.10990	-0.036000	0.13669	-0.196000	0.12772	AGC	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230409	G	A	23230409	3	1	9	1	0	0	0	0	1	0	0	0	7594	971	34	2	178	2	IGLL5	22	23230409	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		23230409	28074157	106	1832										
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39382074	39382074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	ctgagtcaggcaggagcccgCgtgacgatcatggactatga	14	10	2	3			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chr22:39382074C>T	ENST00000333467.3	+	3	477	c.432C>T	c.(430-432)cgC>cgT	p.R144R	APOBEC3B_ENST00000402182.3_Silent_p.R144R|APOBEC3B_ENST00000407298.3_Silent_p.R144R	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CAGGAGCCCGCGTGACGATCA	0.587																																					p.R144R		Atlas-SNP	.											APOBEC3B,NS,carcinoma,+1,1	APOBEC3B	32	1	0			c.C432T						scavenged	.						51	56	54					22																	39382074		2197	4279	6476	SO:0001819	synonymous_variant	9582	exon3			AGCCCGCGTGACG	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.432C>T	22.37:g.39382074C>T		Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	61	3	0.0491803	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																			.	.	none		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39382074	C	T	39382074	2	4	9	1	0	0	0	0	0	0	0	1	790	755	27	1		1	APOBEC3B	22	39382074	Silent	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	16151665	39382074	11922492	107	1833										
TAB3	257397	hgsc.bcm.edu	37	chrX	30873153	30873153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gaagaatttgtaaagctcttGgtacagtctgtccagaaggg	12	6	2	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:30873153G>T	ENST00000378933.1	-	3	806	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	TAB3_ENST00000378932.2_Missense_Mutation_p.P210Q|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.P210Q|TAB3_ENST00000378930.3_Missense_Mutation_p.P210Q|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	210	Pro-rich.				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						TAAAGCTCTTGGTACAGTCTG	0.428																																					p.P210Q	Pancreas(164;1598 1985 29022 43301 49529)	Atlas-SNP	.											.	TAB3	82	.	0			c.C629A						PASS	.						74	67	69					X																	30873153		2202	4300	6502	SO:0001583	missense	257397	exon6			GCTCTTGGTACAG	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.629C>A	X.37:g.30873153G>T	ENSP00000368215:p.Pro210Gln	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	170	22	0.129412	NM_152787	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805702	0.50315	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.84	5.31	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.54323	1.7	0.58432	D	0.999996	B;B	0.33318	0.408;0.286	B;B	0.31101	0.124;0.058	D	0.87804	0.2627	10	0.51188	T	0.08	-3.3679	14.5534	0.68084	0.0:0.0:0.8535:0.1465	.	210;210	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Q	210	ENSP00000368215:P210Q;ENSP00000368212:P210Q;ENSP00000288422:P210Q;ENSP00000368214:P210Q	ENSP00000288422:P210Q	P	-	2	0	TAB3	30783074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.219000	0.72066	0.600000	0.82982	CCA	.	.	none		0.428	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		T	30873153	G	T	30873153	3	4	9	1	0	0	0	0	1	0	0	0	15494	1348	47	4	1533	4	TAB3	23	30873153	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10		30873153	124397407	108	1834										
CYBB	1536	hgsc.bcm.edu	37	chrX	37663373	37663373	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	aggagtttcaagatgcgtggAaactacctaagtgagtaaaa	11	5	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:37663373A>T	ENST00000378588.4	+	9	1208	c.1141A>T	c.(1141-1143)Aaa>Taa	p.K381*	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.K349*|CYBB_ENST00000536160.1_Nonsense_Mutation_p.K114*	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	381	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AGATGCGTGGAAACTACCTAA	0.428																																					p.K381X		Atlas-SNP	.											.	CYBB	62	.	0			c.A1141T						PASS	.						66	61	63					X																	37663373		2202	4300	6502	SO:0001587	stop_gained	1536	exon9			GCGTGGAAACTAC	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1141A>T	X.37:g.37663373A>T	ENSP00000367851:p.Lys381*	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	196	24	0.122449	NM_000397	A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	A	39	7.610350	0.98387	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	.	.	.	5.77	5.77	0.91146	.	0.042364	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0692	0.72021	1.0:0.0:0.0:0.0	.	.	.	.	X	381;349;114	.	ENSP00000367851:K381X	K	+	1	0	CYBB	37548317	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.161000	0.64935	1.941000	0.56285	0.441000	0.28932	AAA	.	.	none		0.428	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			T	37663373	A	T	37663373	4	4	9	1	0	0	0	0	0	1	0	0	4133	247	9	5	1175	5	CYBB	23	37663373	Nonsense_Mutation	SNP	A	TCGA-FA-A86F-01A-11D-A382-10	6790220	37663373	117607187	109	1835										
EFNB1	1947	hgsc.bcm.edu	37	chrX	68058642	68058642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gttggtcacctgcaataggcCagagcaggaaatacgcttta	11	9	1	1			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:68058642C>A	ENST00000204961.4	+	2	1091	c.311C>A	c.(310-312)cCa>cAa	p.P104Q		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	104	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TGCAATAGGCCAGAGCAGGAA	0.532																																					p.P104Q		Atlas-SNP	.											.	EFNB1	37	.	0			c.C311A						PASS	.						110	62	78					X																	68058642		2203	4300	6503	SO:0001583	missense	1947	exon2			ATAGGCCAGAGCA	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.311C>A	X.37:g.68058642C>A	ENSP00000204961:p.Pro104Gln	Somatic	389	0	0		WXS	Illumina HiSeq	Phase_I	195	9	0.0461538	NM_004429	D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519345	0.85495	.	.	ENSG00000090776	ENST00000204961	D	0.97303	-4.33	5.13	5.13	0.70059	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99218	1.0878	10	0.66056	D	0.02	-10.4548	14.8667	0.70422	0.0:1.0:0.0:0.0	.	104	P98172	EFNB1_HUMAN	Q	104	ENSP00000204961:P104Q	ENSP00000204961:P104Q	P	+	2	0	EFNB1	67975367	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.320000	0.79064	2.390000	0.81377	0.436000	0.28706	CCA	.	.	none		0.532	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		A	68058642	C	A	68058642	3	1	9	1	0	0	0	0	1	0	0	0	4955	594	21	4	317	4	EFNB1	23	68058642	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	30395269	68058642	87211918	110	1836										
IRS4	8471	hgsc.bcm.edu	37	chrX	107977810	107977810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	tcctgagcctttgcccccccCagagttcttgccaccacctg	7	19	1	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:107977810C>A	ENST00000372129.2	-	1	1841	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	589					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTGCCCCCCCCAGAGTTCTTG	0.552																																					p.G589W		Atlas-SNP	.											.	IRS4	253	.	0			c.G1765T						PASS	.						165	171	169					X																	107977810		2203	4300	6503	SO:0001583	missense	8471	exon1			CCCCCCCAGAGTT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1765G>T	X.37:g.107977810C>A	ENSP00000361202:p.Gly589Trp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	76	7	0.0921053	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	4.030	0.003029	0.07866	.	.	ENSG00000133124	ENST00000372129	T	0.36340	1.26	4.9	4.02	0.46733	.	0.343723	0.21762	N	0.069500	T	0.48677	0.1513	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.38286	-0.9668	10	0.62326	D	0.03	-4.4135	8.2031	0.31436	0.0:0.8871:0.0:0.1129	.	589	O14654	IRS4_HUMAN	W	589	ENSP00000361202:G589W	ENSP00000361202:G589W	G	-	1	0	IRS4	107864466	0.147000	0.22687	0.968000	0.41197	0.287000	0.27160	1.500000	0.35682	2.257000	0.74773	0.600000	0.82982	GGG	.	.	none		0.552	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107977810	C	A	107977810	3	1	9	1	0	0	0	0	1	0	0	0	7842	594	21	4	2012	4	IRS4	23	107977810	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	39919168	107977810	47292750	111	1837										
AGTR2	186	hgsc.bcm.edu	37	chrX	115304549	115304549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	gtttagggttccaattacttGgctccaagggaaaagagaga	12	6	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:115304549G>T	ENST00000371906.4	+	3	1206	c.1016G>T	c.(1015-1017)tGg>tTg	p.W339L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	339					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CCAATTACTTGGCTCCAAGGG	0.433																																					p.W339L		Atlas-SNP	.											.	AGTR2	62	.	0			c.G1016T						PASS	.						121	112	115					X																	115304549		2203	4300	6503	SO:0001583	missense	186	exon3			TTACTTGGCTCCA	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.1016G>T	X.37:g.115304549G>T	ENSP00000360973:p.Trp339Leu	Somatic	334	0	0		WXS	Illumina HiSeq	Phase_I	215	12	0.055814	NM_000686	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	3.385	-0.125487	0.06795	.	.	ENSG00000180772	ENST00000371906	T	0.35421	1.31	4.63	3.68	0.42216	.	0.416542	0.24431	N	0.038588	T	0.13841	0.0335	N	0.08118	0	0.27245	N	0.959054	B	0.09022	0.002	B	0.01281	0.0	T	0.22138	-1.0225	10	0.09843	T	0.71	-0.0597	4.2132	0.10521	0.1367:0.237:0.6263:0.0	.	339	P50052	AGTR2_HUMAN	L	339	ENSP00000360973:W339L	ENSP00000360973:W339L	W	+	2	0	AGTR2	115218577	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	2.382000	0.44345	2.129000	0.65627	0.506000	0.49869	TGG	.	.	none		0.433	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		T	115304549	G	T	115304549	3	4	9	1	0	0	0	0	1	0	0	0	402	1357	47	4	1018	4	AGTR2	23	115304549	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	7326739	115304549	39966011	112	1838										
SLC6A14	11254	hgsc.bcm.edu	37	chrX	115588850	115588850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	cataccctgactggggagttGctttaggctggtgtatgatt	13	7	0	2			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:115588850G>A	ENST00000371900.4	+	13	1778	c.1690G>A	c.(1690-1692)Gct>Act	p.A564T	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	564					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGGGGAGTTGCTTTAGGCTG	0.368																																					p.A564T		Atlas-SNP	.											.	SLC6A14	56	.	0			c.G1690A						PASS	.						205	184	191					X																	115588850		2203	4300	6503	SO:0001583	missense	11254	exon13			GGAGTTGCTTTAG	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1690G>A	X.37:g.115588850G>A	ENSP00000360967:p.Ala564Thr	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	136	8	0.0588235	NM_007231	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516113	0.44763	.	.	ENSG00000087916	ENST00000371900	T	0.74947	-0.89	5.17	4.31	0.51392	.	0.169081	0.51477	D	0.000091	T	0.69477	0.3115	L	0.51914	1.62	0.39830	D	0.972966	B	0.32604	0.377	B	0.37047	0.24	T	0.68243	-0.5460	10	0.44086	T	0.13	.	10.5295	0.44969	0.0965:0.0:0.9035:0.0	.	564	Q9UN76	S6A14_HUMAN	T	564	ENSP00000360967:A564T	ENSP00000360967:A564T	A	+	1	0	SLC6A14	115502878	0.998000	0.40836	0.991000	0.47740	0.970000	0.65996	3.357000	0.52277	0.974000	0.38366	0.538000	0.68166	GCT	.	.	none		0.368	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			A	115588850	G	A	115588850	3	1	9	1	0	0	0	0	1	0	0	0	14677	1319	46	2	1740	2	SLC6A14	23	115588850	Missense_Mutation	SNP	G	TCGA-FA-A86F-01A-11D-A382-10	284301	115588850	39681710	113	1839										
HS6ST2	90161	hgsc.bcm.edu	37	chrX	132091067	132091067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00884955752212389	1	1	0.1506456241033	0	0.182926829268293	1	1	0	agtggcggccgaaagtggtgCccccggtcttctggatgtgc	16	11	2	0			TCGA-FA-A86F-01A-11D-A382-10	TCGA-FA-A86F-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b8a8bb7b-4ae4-40f5-8d6e-e942b0288c71	c6136d19-d490-4585-bc8a-f8ee1c7d7906	g.chrX:132091067C>A	ENST00000370836.2	-	3	1131	c.716G>T	c.(715-717)gGc>gTc	p.G239V	HS6ST2_ENST00000370833.2_Missense_Mutation_p.G93V|HS6ST2_ENST00000521489.1_Missense_Mutation_p.G239V	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	239	5'-phosphosulfate-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GAAAGTGGTGCCCCCGGTCTT	0.617																																					p.G239V		Atlas-SNP	.											.	HS6ST2	89	.	0			c.G716T						PASS	.						28	34	32					X																	132091067		2186	4279	6465	SO:0001583	missense	90161	exon3			GTGGTGCCCCCGG	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.716G>T	X.37:g.132091067C>A	ENSP00000359873:p.Gly239Val	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	100	8	0.08	NM_001077188	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909561	0.72868	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78375	-0.2228	10	0.87932	D	0	-18.7584	15.4915	0.75607	0.0:1.0:0.0:0.0	.	239;239	Q96MM7;E9PDY5	H6ST2_HUMAN;.	V	93;239;239;93;80	ENSP00000359874:G93V;ENSP00000359873:G239V;ENSP00000429473:G239V;ENSP00000359870:G93V	ENSP00000324617:G80V	G	-	2	0	HS6ST2	131918749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.244000	0.78228	2.212000	0.71576	0.529000	0.55759	GGC	.	.	none		0.617	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		A	132091067	C	A	132091067	3	1	9	1	0	0	0	0	1	0	0	0	7371	739	26	4	1237	4	HS6ST2	23	132091067	Missense_Mutation	SNP	C	TCGA-FA-A86F-01A-11D-A382-10	16502217	132091067	23179493	114	1840										
AURKAIP1	54998	hgsc.bcm.edu	37	chr1	1309461	1309461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agcttccggtacttgtggtgGttcatcttccgccggcggat	13	11	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:1309461G>A	ENST00000338370.3	-	2	817	c.417C>T	c.(415-417)aaC>aaT	p.N139N	AURKAIP1_ENST00000321751.5_Silent_p.N139N|AURKAIP1_ENST00000378853.3_Silent_p.N139N|AURKAIP1_ENST00000338338.5_Silent_p.N139N|AURKAIP1_ENST00000489799.1_5'Flank			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	139					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	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)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTTGTGGTGGTTCATCTTCC	0.617																																					p.N139N		Atlas-SNP	.											.	AURKAIP1	12	.	0			c.C417T						PASS	.						101	100	100					1																	1309461		2203	4296	6499	SO:0001819	synonymous_variant	54998	exon3			GTGGTGGTTCATC		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.417C>T	1.37:g.1309461G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	73	29	0.39726	NM_001127230	Q5TA36|Q8TBD3	Silent	SNP	ENST00000338370.3	37	CCDS25.1																																																																																			.	.	none		0.617	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		A	1309461	G	A	1309461	2	1	10	1	0	0	0	0	0	0	0	1	1222	1252	44	2		2	AURKAIP1	1	1309461	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10		1309461	247941160	1	1841										
CAMTA1	23261	hgsc.bcm.edu	37	chr1	7797002	7797002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccttatagtacaaagcacgCggatagcattgacctggaac	9	11	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:7797002C>T	ENST00000303635.7	+	14	3482	c.3275C>T	c.(3274-3276)gCg>gTg	p.A1092V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1092V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1092					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAAGCACGCGGATAGCATT	0.463			T	WWTR1	epitheliod hemangioendothelioma																																p.A1092V		Atlas-SNP	.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	CAMTA1,NS,carcinoma,+1,1	CAMTA1	226	1	0			c.C3275T						scavenged	.						127	114	119					1																	7797002		2203	4300	6503	SO:0001583	missense	23261	exon14			AGCACGCGGATAG	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3275C>T	1.37:g.7797002C>T	ENSP00000306522:p.Ala1092Val	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	139	3	0.0215827	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.100289|4.100289	0.76983|0.76983	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646|ENST00000495233	T;T|.	0.42513|.	0.97;0.97|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Ankyrin repeat-containing domain (3);|.	0.053468|.	0.85682|.	D|.	0.000000|.	T|T	0.56381|0.56381	0.1981|0.1981	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.997;0.982;0.998;0.999|.	D;B;P;D|.	0.66351|.	0.943;0.383;0.84;0.911|.	T|T	0.50224|0.50224	-0.8853|-0.8853	10|5	0.37606|.	T|.	0.19|.	-8.6758|-8.6758	19.6383|19.6383	0.95746|0.95746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1092;179;48;1092|.	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1|.	.;.;.;CMTA1_HUMAN|.	V|W	1092;1092;179;48|49	ENSP00000306522:A1092V;ENSP00000402561:A1092V|.	ENSP00000306522:A1092V|.	A|R	+|+	2|1	0|2	CAMTA1|CAMTA1	7719589|7719589	1.000000|1.000000	0.71417|0.71417	0.766000|0.766000	0.31476|0.31476	0.031000|0.031000	0.12232|0.12232	7.440000|7.440000	0.80464|0.80464	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GCG|CGG	.	.	none		0.463	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7797002	C	T	7797002	3	4	10	1	0	0	0	0	1	0	0	0	2613	768	27	1	3329	1	CAMTA1	1	7797002	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6487541	7797002	241453619	2	1842										
SLC45A1	50651	hgsc.bcm.edu	37	chr1	8390740	8390740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggccatccctggcagcgtccCcaggccgcccatcagcgtca	11	19	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:8390740C>T	ENST00000471889.1	+	5	1572	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	SLC45A1_ENST00000289877.8_Missense_Mutation_p.P396L|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.P430L|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	396					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCGTCCCCAGGCCGCCC	0.672																																					p.P396L		Atlas-SNP	.											.	SLC45A1	85	.	0			c.C1187T						PASS	.						32	33	33					1																	8390740		2203	4300	6503	SO:0001583	missense	50651	exon4			GCGTCCCCAGGCC	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1187C>T	1.37:g.8390740C>T	ENSP00000418096:p.Pro396Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	59	17	0.288136	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	8.089	0.774143	0.16051	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.22134	2.01;1.97;2.01	4.66	4.66	0.58398	.	0.349376	0.30260	N	0.010030	T	0.22085	0.0532	M	0.64997	1.995	0.80722	D	1	P	0.40144	0.704	B	0.30495	0.116	T	0.10132	-1.0643	10	0.51188	T	0.08	-30.6706	16.5386	0.84378	0.0:1.0:0.0:0.0	.	396	Q9Y2W3	S45A1_HUMAN	L	396;430;396	ENSP00000418096:P396L;ENSP00000366699:P430L;ENSP00000289877:P396L	ENSP00000289877:P396L	P	+	2	0	SLC45A1	8313327	1.000000	0.71417	0.068000	0.19968	0.014000	0.08584	7.095000	0.76952	2.121000	0.65114	0.561000	0.74099	CCC	.	.	none		0.672	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8390740	C	T	8390740	3	4	10	1	0	0	0	0	1	0	0	0	14640	623	22	2	1201	2	SLC45A1	1	8390740	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	593738	8390740	240859881	3	1843										
TNFRSF8	943	hgsc.bcm.edu	37	chr1	12164562	12164562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttcttccattctgtctgtcCggcagggatgattgtcaagt	10	10	4	1	rs370304432		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:12164562C>T	ENST00000263932.2	+	4	617	c.395C>T	c.(394-396)cCg>cTg	p.P132L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P21L	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	132					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.P132L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TCTGTCTGTCCGGCAGGGATG	0.577																																					p.P132L		Atlas-SNP	.											TNFRSF8,bladder,carcinoma,0,2	TNFRSF8	70	2	1	Substitution - Missense(1)	urinary_tract(1)	c.C395T						scavenged	.	C	LEU/PRO	0,4406		0,0,2203	132	101	112		395	2.9	0	1		112	1,8599		0,1,4299	no	missense	TNFRSF8	NM_001243.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	132/596	12164562	1,13005	2203	4300	6503	SO:0001583	missense	943	exon4			TCTGTCCGGCAGG	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.395C>T	1.37:g.12164562C>T	ENSP00000263932:p.Pro132Leu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	160	2	0.0125	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.340993	0.41498	0.0	1.16E-4	ENSG00000120949	ENST00000263932;ENST00000417814	T;D	0.95001	3.35;-3.58	4.89	2.86	0.33363	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.555060	0.03424	N	0.206769	D	0.91620	0.7352	L	0.58101	1.795	0.09310	N	1	B;B	0.30033	0.266;0.266	B;B	0.20577	0.03;0.03	T	0.79862	-0.1624	10	0.30078	T	0.28	-3.1656	5.4053	0.16318	0.1985:0.7003:0.0:0.1013	.	21;132	D3YTD8;P28908	.;TNR8_HUMAN	L	132;21	ENSP00000263932:P132L;ENSP00000390650:P21L	ENSP00000263932:P132L	P	+	2	0	TNFRSF8	12087149	0.001000	0.12720	0.025000	0.17156	0.064000	0.16182	1.202000	0.32271	1.397000	0.46682	0.650000	0.86243	CCG	.	.	none		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12164562	C	T	12164562	3	4	10	1	0	0	0	0	1	0	0	0	16296	652	23	1	409	1	TNFRSF8	1	12164562	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3773822	12164562	237086059	4	1844										
VPS13D	55187	hgsc.bcm.edu	37	chr1	12333079	12333079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggaggagagtaaacgatggaCcgtgcggctggatatttctg	16	6	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:12333079C>T	ENST00000358136.3	+	18	2253	c.2123C>T	c.(2122-2124)aCc>aTc	p.T708I	VPS13D_ENST00000356315.4_Missense_Mutation_p.T708I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACGATGGACCGTGCGGCTG	0.428																																					p.T708I		Atlas-SNP	.											VPS13D,right_upper_lobe,carcinoma,0,1	VPS13D	316	1	0			c.C2123T						scavenged	.						144	134	137					1																	12333079		2203	4300	6503	SO:0001583	missense	55187	exon18			GATGGACCGTGCG	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2123C>T	1.37:g.12333079C>T	ENSP00000350854:p.Thr708Ile	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	153	3	0.0196078	NM_015378		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635458	0.47049	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.45276	0.9;0.9	5.16	0.627	0.17675	.	0.176098	0.48286	D	0.000185	T	0.39145	0.1067	L	0.55481	1.735	0.80722	D	1	P;P	0.50617	0.937;0.624	P;B	0.44394	0.448;0.261	T	0.30238	-0.9985	10	0.66056	D	0.02	.	11.3336	0.49490	0.0:0.4778:0.4528:0.0694	.	708;708	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	I	708	ENSP00000348666:T708I;ENSP00000350854:T708I	ENSP00000348666:T708I	T	+	2	0	VPS13D	12255666	0.995000	0.38212	0.789000	0.31954	0.398000	0.30690	3.158000	0.50723	-0.161000	0.10983	0.585000	0.79938	ACC	.	.	none		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12333079	C	T	12333079	3	4	10	1	0	0	0	0	1	0	0	0	17189	507	18	2	2189	2	VPS13D	1	12333079	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	168517	12333079	236917542	5	1845										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12853441	12853441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gagcctgctgagagaccaggCcttgtccatctctgccatgg	12	13	1	2	rs75270454		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:12853441C>A	ENST00000332296.7	+	2	168	c.65C>A	c.(64-66)gCc>gAc	p.A22D	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	22					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A22D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACCAGGCCTTGTCCATC	0.562																																					p.A22D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,0,2	PRAMEF1	78	2	2	Substitution - Missense(2)	kidney(2)	c.C65A						scavenged	.						71	79	76					1																	12853441		2202	4294	6496	SO:0001583	missense	65121	exon2			ACCAGGCCTTGTC	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.65C>A	1.37:g.12853441C>A	ENSP00000332134:p.Ala22Asp	Somatic	277	5	0.0180505		WXS	Illumina HiSeq	Phase_I	282	9	0.0319149	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095223	0.08681	.	.	ENSG00000116721	ENST00000332296	T	0.18016	2.24	1.64	-2.04	0.07343	.	0.350802	0.29537	N	0.011869	T	0.18173	0.0436	M	0.73217	2.22	0.09310	N	1	P	0.48089	0.905	P	0.48400	0.576	T	0.11397	-1.0589	10	0.48119	T	0.1	.	1.0347	0.01546	0.2203:0.4057:0.217:0.157	.	22	O95521	PRAM1_HUMAN	D	22	ENSP00000332134:A22D	ENSP00000332134:A22D	A	+	2	0	PRAMEF1	12776028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.611000	0.05709	-3.517000	0.00032	GCC	A|0.000;C|0.999;T|0.000	0.000	strong		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12853441	C	A	12853441	3	1	10	1	0	0	0	0	1	0	0	0	12425	739	26	4	67	4	PRAMEF1	1	12853441	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	520362	12853441	236397180	6	1846										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	330	17	0.0515152		WXS	Illumina HiSeq	Phase_I	298	17	0.057047	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	10	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	54267	12907708	236342913	7	1847										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921387	12921387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caattgcatgtctattgacgCcctgaaggacctgctgcgcc	10	13	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:12921387C>T	ENST00000240189.2	+	4	1265	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	393					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A393V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATTGACGCCCTGAAGGAC	0.552																																					p.A393V		Atlas-SNP	.											PRAMEF2,extremity,malignant_melanoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	skin(1)	c.C1178T						scavenged	.						95	98	97					1																	12921387		2202	4295	6497	SO:0001583	missense	65122	exon4			TTGACGCCCTGAA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1178C>T	1.37:g.12921387C>T	ENSP00000240189:p.Ala393Val	Somatic	592	13	0.0219595		WXS	Illumina HiSeq	Phase_I	607	8	0.0131796	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.121961	0.00346	.	.	ENSG00000120952	ENST00000240189	T	0.08720	3.06	0.824	-0.963	0.10330	.	2.409600	0.01594	N	0.021709	T	0.04724	0.0128	N	0.17674	0.51	0.09310	N	1	B	0.29590	0.25	B	0.29942	0.109	T	0.23226	-1.0194	10	0.02654	T	1	.	3.0964	0.06311	0.0:0.3592:0.0:0.6408	.	393	O60811	PRAM2_HUMAN	V	393	ENSP00000240189:A393V	ENSP00000240189:A393V	A	+	2	0	PRAMEF2	12843974	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.039000	0.03550	-0.277000	0.09193	0.173000	0.16961	GCC	.	.	none		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12921387	C	T	12921387	3	4	10	1	0	0	0	0	1	0	0	0	12435	739	26	2	1188	2	PRAMEF2	1	12921387	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13679	12921387	236329234	8	1848										
ZBTB17	7709	hgsc.bcm.edu	37	chr1	16274938	16274938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacagagaagccccagctgcCgctgctggttcagctgttcc	11	15	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:16274938C>T	ENST00000375743.4	-	3	285	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.R18Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.R18Q|ZBTB17_ENST00000479282.1_5'UTR	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	18	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCTGCCGCTGCTGGTT	0.557																																					p.R18Q		Atlas-SNP	.											ZBTB17,NS,carcinoma,0,1	ZBTB17	45	1	0			c.G53A						scavenged	.						57	57	57					1																	16274938		2203	4300	6503	SO:0001583	missense	7709	exon3			AGCTGCCGCTGCT	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.53G>A	1.37:g.16274938C>T	ENSP00000364895:p.Arg18Gln	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	134	3	0.0223881	NM_003443	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	36	5.939461	0.97128	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.73152	1.75;1.75;-0.72	5.3	5.3	0.74995	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.88202	0.6373	M	0.92555	3.32	0.42812	D	0.993965	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.993;0.998;0.993;1.0;0.995	D	0.90932	0.4791	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	18;18;18;18;18;18	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	Q	18	ENSP00000364895:R18Q;ENSP00000364885:R18Q;ENSP00000391002:R18Q	ENSP00000364885:R18Q	R	-	2	0	ZBTB17	16147525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	CGG	.	.	none		0.557	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		T	16274938	C	T	16274938	3	4	10	1	0	0	0	0	1	0	0	0	17524	652	23	1	2414	1	ZBTB17	1	16274938	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3353551	16274938	232975683	9	1849										
CELA3B	23436	hgsc.bcm.edu	37	chr1	22304901	22304901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttcctctcgcccttccagccGcgttgtcaatggtgaggatg	11	13	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:22304901G>A	ENST00000337107.6	+	2	102	c.83G>A	c.(82-84)cGc>cAc	p.R28H	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	28					cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTTCCAGCCGCGTTGTCAAT	0.612																																					p.R28H		Atlas-SNP	.											.	CELA3B	24	.	0			c.G83A						PASS	.						166	103	124					1																	22304901		2203	4300	6503	SO:0001583	missense	23436	exon2			CCAGCCGCGTTGT	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.83G>A	1.37:g.22304901G>A	ENSP00000338369:p.Arg28His	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	239	45	0.188285	NM_007352	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.058413	0.97246	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	T;T	0.23552	1.9;1.9	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.78049	2.395	0.36974	D	0.893974	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.984	T	0.64588	-0.6372	10	0.87932	D	0	-47.2794	16.0019	0.80301	0.0:0.0:1.0:0.0	.	28;28	B1AQ52;P08861	.;CEL3B_HUMAN	H	28;44	ENSP00000338369:R28H;ENSP00000363798:R44H	ENSP00000338369:R28H	R	+	2	0	CELA3B	22177488	0.998000	0.40836	0.262000	0.24481	0.821000	0.46438	8.940000	0.92958	2.375000	0.81037	0.650000	0.86243	CGC	.	.	none		0.612	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		A	22304901	G	A	22304901	3	1	10	1	0	0	0	0	1	0	0	0	3214	1087	38	1	89	1	CELA3B	1	22304901	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6029963	22304901	226945720	10	1850										
EXTL1	2134	hgsc.bcm.edu	37	chr1	26349716	26349716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtggactccttccggcccggCtttgatgtggccctcccttt	11	15	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:26349716C>T	ENST00000374280.3	+	1	1446	c.579C>T	c.(577-579)ggC>ggT	p.G193G	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	193					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.G193G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGCCCGGCTTTGATGTGG	0.697																																					p.G193G		Atlas-SNP	.											EXTL1,NS,carcinoma,0,1	EXTL1	61	1	1	Substitution - coding silent(1)	lung(1)	c.C579T						scavenged	.						25	27	27					1																	26349716		2202	4298	6500	SO:0001819	synonymous_variant	2134	exon1			GCCCGGCTTTGAT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.579C>T	1.37:g.26349716C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_004455	Q6GSC1	Silent	SNP	ENST00000374280.3	37	CCDS271.1																																																																																			.	.	none		0.697	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		T	26349716	C	T	26349716	2	4	10	1	0	0	0	0	0	0	0	1	5325	784	28	2		2	EXTL1	1	26349716	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4044815	26349716	222900905	11	1851										
GPATCH3	63906	hgsc.bcm.edu	37	chr1	27219894	27219894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagtacctctgtcatagtacAcactcatgtccacatcccag	5	15	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:27219894A>G	ENST00000361720.5	-	4	1120	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	366							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTCATAGTACACACTCATGTC	0.478																																					p.V366A		Atlas-SNP	.											GPATCH3,NS,carcinoma,-1,1	GPATCH3	30	1	0			c.T1097C						scavenged	.						405	383	391					1																	27219894		2203	4300	6503	SO:0001583	missense	63906	exon4			TAGTACACACTCA	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1097T>C	1.37:g.27219894A>G	ENSP00000354645:p.Val366Ala	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	216	3	0.0138889	NM_022078	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.53|14.53	2.563590|2.563590	0.45694|0.45694	.|.	.|.	ENSG00000198746|ENSG00000198746	ENST00000445019|ENST00000361720;ENST00000536641;ENST00000374122	.|T	.|0.42900	.|0.96	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.284832	.|0.34156	.|N	.|0.004205	T|T	0.30008|0.30008	0.0751|0.0751	L|L	0.27053|0.27053	0.805|0.805	0.41124|0.41124	D|D	0.985837|0.985837	.|B	.|0.22080	.|0.064	.|B	.|0.22753	.|0.041	T|T	0.09907|0.09907	-1.0653|-1.0653	5|10	.|0.30078	.|T	.|0.28	-11.5986|-11.5986	11.3831|11.3831	0.49770|0.49770	0.8488:0.1512:0.0:0.0|0.8488:0.1512:0.0:0.0	.|.	.|366	.|Q96I76	.|GPTC3_HUMAN	R|A	16|366;348;177	.|ENSP00000354645:V366A	.|ENSP00000354645:V366A	C|V	-|-	1|2	0|0	GPATCH3|GPATCH3	27092481|27092481	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.973000|0.973000	0.67179|0.67179	6.598000|6.598000	0.74122|0.74122	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	TGT|GTG	.	.	none		0.478	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		G	27219894	A	G	27219894	3	3	10	1	0	0	0	0	1	0	0	0	6592	159	6	2	496	2	GPATCH3	1	27219894	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	870178	27219894	222030727	12	1852										
FAM46B	115572	hgsc.bcm.edu	37	chr1	27333242	27333242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcttggcccggctcacaccGgccggcaggaagtctagtag	13	13	3	0	rs142664149		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:27333242G>A	ENST00000289166.5	-	2	636	c.471C>T	c.(469-471)gcC>gcT	p.A157A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	157										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCACACCGGCCGGCAGGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17271	0.0		0.001	False		,,,				2504	0.0				p.A157A		Atlas-SNP	.											FAM46B,NS,carcinoma,0,1	FAM46B	44	1	0			c.C471T						scavenged	.	G		0,4406		0,0,2203	104	101	102		471	-10.2	0	1	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAM46B	NM_052943.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		157/426	27333242	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	115572	exon2			CACACCGGCCGGC	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.471C>T	1.37:g.27333242G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	123	3	0.0243902	NM_052943		Silent	SNP	ENST00000289166.5	37	CCDS294.2																																																																																			G|1.000;A|0.000	0.000	strong		0.612	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		A	27333242	G	A	27333242	2	1	10	1	0	0	0	0	0	0	0	1	5566	1103	39	1		1	FAM46B	1	27333242	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	113348	27333242	221917379	13	1853										
BAI2	576	hgsc.bcm.edu	37	chr1	32196967	32196967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcatccagggacaggcgggAtagtgtgcccgtgatggtgg	17	9	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:32196967A>G	ENST00000373658.3	-	29	4155	c.3814T>C	c.(3814-3816)Tcc>Ccc	p.S1272P	BAI2_ENST00000398542.1_Missense_Mutation_p.S1172P|BAI2_ENST00000398547.1_Missense_Mutation_p.S1205P|BAI2_ENST00000440175.2_Missense_Mutation_p.S881P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000373655.2_Missense_Mutation_p.S1272P|BAI2_ENST00000398538.1_Missense_Mutation_p.S1260P|BAI2_ENST00000257070.4_Missense_Mutation_p.S1239P|BAI2_ENST00000527361.1_Missense_Mutation_p.S1239P|BAI2_ENST00000398556.3_Missense_Mutation_p.S1187P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1272					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GACAGGCGGGATAGTGTGCCC	0.622																																					p.S1272P		Atlas-SNP	.											BAI2,NS,haematopoietic_neoplasm,+2,1	BAI2	128	1	0			c.T3814C						scavenged	.						35	29	31					1																	32196967		2202	4299	6501	SO:0001583	missense	576	exon29			GGCGGGATAGTGT	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3814T>C	1.37:g.32196967A>G	ENSP00000362762:p.Ser1272Pro	Somatic	247	24	0.097166		WXS	Illumina HiSeq	Phase_I	215	19	0.0883721	NM_001703	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590738	0.66219	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.56611	1.12;1.45;0.62;0.62;1.5;0.45;0.45;1.15;0.64	5.16	5.16	0.70880	.	0.000000	0.42420	D	0.000719	T	0.69378	0.3104	M	0.63843	1.955	0.52501	D	0.999951	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.999;0.999;0.997;0.997	D;D;D;D;D;D;D	0.91635	0.999;0.974;0.922;0.942;0.999;0.942;0.922	T	0.71024	-0.4712	10	0.51188	T	0.08	.	14.9679	0.71208	1.0:0.0:0.0:0.0	.	1239;1260;881;1187;1272;1272;1260	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	P	1187;1205;1272;1272;1172;1239;1239;881;1260	ENSP00000381564:S1187P;ENSP00000381555:S1205P;ENSP00000362762:S1272P;ENSP00000362759:S1272P;ENSP00000381550:S1172P;ENSP00000257070:S1239P;ENSP00000435397:S1239P;ENSP00000391071:S881P;ENSP00000381548:S1260P	ENSP00000257070:S1239P	S	-	1	0	BAI2	31969554	1.000000	0.71417	0.910000	0.35882	0.817000	0.46193	5.281000	0.65609	2.074000	0.62210	0.459000	0.35465	TCC	.	.	none		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		G	32196967	A	G	32196967	3	3	10	1	0	0	0	0	1	0	0	0	1299	333	12	2	963	2	BAI2	1	32196967	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	4863725	32196967	217053654	14	1854										
ZYG11B	79699	hgsc.bcm.edu	37	chr1	53237431	53237431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tactctgaattcctcacaggCgaaggacatttgaaggttag	10	8	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:53237431C>T	ENST00000294353.6	+	3	1081	c.936C>T	c.(934-936)ggC>ggT	p.G312G	ZYG11B_ENST00000443756.2_Silent_p.G312G|ZYG11B_ENST00000545132.1_Silent_p.G312G	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	312										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TCCTCACAGGCGAAGGACATT	0.373																																					p.G312G		Atlas-SNP	.											ZYG11B,NS,carcinoma,0,1	ZYG11B	61	1	0			c.C936T						scavenged	.						81	80	80					1																	53237431		2203	4295	6498	SO:0001819	synonymous_variant	79699	exon3			CACAGGCGAAGGA	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.936C>T	1.37:g.53237431C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_024646	Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	CCDS30717.1																																																																																			.	.	none		0.373	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		T	53237431	C	T	53237431	2	4	10	1	0	0	0	0	0	0	0	1	18250	755	27	1		1	ZYG11B	1	53237431	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	21040464	53237431	196013190	15	1855										
GLIS1	148979	hgsc.bcm.edu	37	chr1	53980302	53980302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcctggtgtacatacccatCccgggtgctctcagccatgg	12	14	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:53980302C>T	ENST00000312233.2	-	7	1920	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACATACCCATCCCGGGTGCTC	0.647																																					p.D452N		Atlas-SNP	.											.	GLIS1	52	.	0			c.G1354A						PASS	.						76	78	77					1																	53980302		2203	4300	6503	SO:0001583	missense	148979	exon7			ACCCATCCCGGGT	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1354G>A	1.37:g.53980302C>T	ENSP00000309653:p.Asp452Asn	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	161	29	0.180124	NM_147193		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237047	0.79800	.	.	ENSG00000174332	ENST00000312233	T	0.10573	2.86	4.97	4.97	0.65823	.	0.106321	0.41097	D	0.000949	T	0.13798	0.0334	L	0.29908	0.895	0.38952	D	0.958378	P	0.52842	0.956	P	0.50082	0.63	T	0.10132	-1.0643	10	0.23891	T	0.37	.	16.8949	0.86097	0.0:1.0:0.0:0.0	.	452	Q8NBF1	GLIS1_HUMAN	N	452	ENSP00000309653:D452N	ENSP00000309653:D452N	D	-	1	0	GLIS1	53752890	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.887000	0.56197	2.688000	0.91661	0.563000	0.77884	GAT	.	.	none		0.647	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		T	53980302	C	T	53980302	3	4	10	1	0	0	0	0	1	0	0	0	6445	855	30	2	524	2	GLIS1	1	53980302	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	742871	53980302	195270319	16	1856										
WDR78	79819	hgsc.bcm.edu	37	chr1	67299296	67299296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaaagcaaaacacattccaGgagcctgtcgagatatcaaa	8	9	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:67299296G>T	ENST00000371026.3	-	13	2040	c.1985C>A	c.(1984-1986)cCt>cAt	p.P662H	WDR78_ENST00000431318.1_Missense_Mutation_p.P408H	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	662					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACACATTCCAGGAGCCTGTCG	0.343																																					p.P662H		Atlas-SNP	.											WDR78,face,carcinoma,-1,1	WDR78	102	1	0			c.C1985A						scavenged	.						147	150	149					1																	67299296		2203	4300	6503	SO:0001583	missense	79819	exon13			ATTCCAGGAGCCT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1985C>A	1.37:g.67299296G>T	ENSP00000360065:p.Pro662His	Somatic	192	1	0.00520833		WXS	Illumina HiSeq	Phase_I	199	2	0.0100503	NM_024763	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012914	0.75161	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.74632	-0.86;-0.2;-0.2	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050731	0.85682	D	0.000000	D	0.83811	0.5335	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.96	D	0.84084	0.0386	10	0.72032	D	0.01	-20.6504	20.1346	0.98019	0.0:0.0:1.0:0.0	.	408;662	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	H	662;408;428	ENSP00000360065:P662H;ENSP00000393182:P408H;ENSP00000433682:P428H	ENSP00000360065:P662H	P	-	2	0	WDR78	67071884	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	8.039000	0.88947	2.765000	0.95021	0.655000	0.94253	CCT	.	.	none		0.343	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67299296	G	T	67299296	3	4	10	1	0	0	0	0	1	0	0	0	17325	1000	35	4	581	4	WDR78	1	67299296	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	13318994	67299296	181951325	17	1857										
LPPR4	9890	hgsc.bcm.edu	37	chr1	99771406	99771406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atacagaaggcatcctcaacCgaaaccacagagatgctagc	8	12	1	2	rs567805874		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:99771406C>T	ENST00000370185.3	+	7	1629	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R320*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R220*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		378					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R378G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CATCCTCAACCGAAACCACAG	0.463																																					p.R378X		Atlas-SNP	.											LPPR4,colon,carcinoma,-1,2	LPPR4	143	2	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C1132T						scavenged	.						96	93	94					1																	99771406		2203	4300	6503	SO:0001587	stop_gained	0	exon7			CTCAACCGAAACC																												ENST00000370185.3:c.1132C>T	1.37:g.99771406C>T	ENSP00000359204:p.Arg378*	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	278	3	0.0107914	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	39	7.823181	0.98510	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	.	.	.	5.71	4.78	0.61160	.	0.255371	0.34338	N	0.004059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1208	13.8899	0.63733	0.3329:0.6671:0.0:0.0	.	.	.	.	X	378;320;378;220	.	.	R	+	1	2	RP4-788L13.1	99543994	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	2.860000	0.48372	1.367000	0.46095	0.650000	0.86243	CGA	.	.	none		0.463	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99771406	C	T	99771406	4	4	10	1	0	0	0	0	0	1	0	0	8927	644	23	1	1158	1	LPPR4	1	99771406	Nonsense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	32472110	99771406	149479215	18	1858										
CASQ2	845	hgsc.bcm.edu	37	chr1	116243937	116243937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcatcatcatcatcttcatcAtcatcttcagtgtttatctt	2	11	11	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:116243937A>G	ENST00000261448.5	-	11	1364	c.1125T>C	c.(1123-1125)gaT>gaC	p.D375D	CASQ2_ENST00000456138.2_Silent_p.D304D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	375	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		catcttcatcatcatcttcaG	0.408																																					p.D375D		Atlas-SNP	.											CASQ2,NS,carcinoma,-2,1	CASQ2	54	1	0			c.T1125C						scavenged	.						171	143	153					1																	116243937		2203	4300	6503	SO:0001819	synonymous_variant	845	exon11			TTCATCATCATCT	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1125T>C	1.37:g.116243937A>G		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	255	3	0.0117647	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	ENST00000261448.5	37	CCDS884.1																																																																																			.	.	none		0.408	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		G	116243937	A	G	116243937	2	3	10	1	0	0	0	0	0	0	0	1	2681	214	8	2		2	CASQ2	1	116243937	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	16472531	116243937	133006684	19	1859										
ECM1	1893	hgsc.bcm.edu	37	chr1	150484192	150484192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgcttccgctctgtgccacGcaacctgccagctactgacc	9	18	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:150484192G>A	ENST00000369047.4	+	7	1093	c.968G>A	c.(967-969)cGc>cAc	p.R323H	ECM1_ENST00000369049.4_Missense_Mutation_p.R350H|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	323	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCTGTGCCACGCAACCTGCCA	0.592																																					p.R350H	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											ECM1_ENST00000369049,NS,carcinoma,+1,2	ECM1	96	2	0			c.G1049A						scavenged	.						53	49	51					1																	150484192		2203	4300	6503	SO:0001583	missense	1893	exon7			TGCCACGCAACCT	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.968G>A	1.37:g.150484192G>A	ENSP00000358043:p.Arg323His	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	146	2	0.0136986	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477246	0.63849	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.79940	-1.32;-1.32	4.19	3.27	0.37495	.	0.400394	0.21009	N	0.081706	T	0.81517	0.4839	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.82339	-0.0506	10	0.72032	D	0.01	-20.086	7.9404	0.29955	0.1133:0.0:0.8867:0.0	.	350;323;323	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	H	350;323	ENSP00000358045:R350H;ENSP00000358043:R323H	ENSP00000358043:R323H	R	+	2	0	ECM1	148750816	0.109000	0.22037	0.998000	0.56505	0.926000	0.56050	0.523000	0.22925	1.116000	0.41820	0.555000	0.69702	CGC	.	.	none		0.592	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		A	150484192	G	A	150484192	3	1	10	1	0	0	0	0	1	0	0	0	4897	1087	38	1	994	1	ECM1	1	150484192	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	34240255	150484192	98766429	20	1860										
FLG2	388698	hgsc.bcm.edu	37	chr1	152325795	152325795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttccagttgtactggacccTctctgtgtggattttccatg	9	11	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:152325795T>C	ENST00000388718.5	-	3	4539	c.4467A>G	c.(4465-4467)agA>agG	p.R1489R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1489					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACTGGACCCTCTCTGTGTGG	0.522																																					p.R1489R		Atlas-SNP	.											FLG2,colon,carcinoma,-1,1	FLG2	431	1	0			c.A4467G						scavenged	.						363	346	352					1																	152325795		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			GGACCCTCTCTGT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4467A>G	1.37:g.152325795T>C		Somatic	288	0	0		WXS	Illumina HiSeq	Phase_I	289	3	0.0103806	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.	.	none		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325795	T	C	152325795	2	2	10	1	0	0	0	0	0	0	0	1	5923	1548	54	3		3	FLG2	1	152325795	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1841603	152325795	96924826	21	1861										
FLG2	388698	hgsc.bcm.edu	37	chr1	152325925	152325925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gagatccggcttggccatgaGtttgttcttgtgattgtggt	14	6	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:152325925G>A	ENST00000388718.5	-	3	4409	c.4337C>T	c.(4336-4338)aCt>aTt	p.T1446I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1446					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCATGAGTTTGTTCTTG	0.527																																					p.T1446I		Atlas-SNP	.											.	FLG2	431	.	0			c.C4337T						PASS	.						366	329	341					1																	152325925		2203	4300	6503	SO:0001583	missense	388698	exon3			CCATGAGTTTGTT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4337C>T	1.37:g.152325925G>A	ENSP00000373370:p.Thr1446Ile	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	314	149	0.474522	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	4.655	0.121725	0.08931	.	.	ENSG00000143520	ENST00000388718	T	0.40476	1.03	3.22	-6.43	0.01926	.	.	.	.	.	T	0.11965	0.0291	M	0.68593	2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13229	-1.0517	9	0.52906	T	0.07	3.444	0.1468	0.00089	0.2725:0.2261:0.1625:0.3389	.	1446	Q5D862	FILA2_HUMAN	I	1446	ENSP00000373370:T1446I	ENSP00000373370:T1446I	T	-	2	0	FLG2	150592549	0.029000	0.19370	0.000000	0.03702	0.001000	0.01503	-0.043000	0.12043	-2.658000	0.00420	-0.913000	0.02753	ACT	.	.	none		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152325925	G	A	152325925	3	1	10	1	0	0	0	0	1	0	0	0	5923	1029	36	2	2842	2	FLG2	1	152325925	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	130	152325925	96924696	22	1862										
CRCT1	54544	hgsc.bcm.edu	37	chr1	152488146	152488146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caaccggagctcaggatgctGctccggctgctgagaggccc	14	14	1	1	rs16834168	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:152488146G>A	ENST00000368790.3	+	2	360	c.287G>A	c.(286-288)tGc>tAc	p.C96Y		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	96	Cys-rich.		C -> Y (in dbSNP:rs16834168).							lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGGATGCTGCTCCGGCTGC	0.726													G|||	463	0.0924521	0.0734	0.1816	5008	,	,		10222	0.1032		0.0288	False		,,,				2504	0.1094				p.C96Y		Atlas-SNP	.											.	CRCT1	6	.	0			c.G287A						PASS	.	G	TYR/CYS	146,3402		0,146,1628	3	4	4		287	3.7	1	1	dbSNP_123	4	118,7426		0,118,3654	yes	missense	CRCT1	NM_019060.2	194	0,264,5282	AA,AG,GG		1.5642,4.115,2.3801	probably-damaging	96/100	152488146	264,10828	1774	3772	5546	SO:0001583	missense	54544	exon2			GATGCTGCTCCGG	AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 42"	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.287G>A	1.37:g.152488146G>A	ENSP00000357779:p.Cys96Tyr	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	8	5	0.625	NM_019060	A4QN00|Q6IAD7	Missense_Mutation	SNP	ENST00000368790.3	37	CCDS1012.1	165	0.07554945054945054	32	0.06504065040650407	48	0.13259668508287292	63	0.11013986013986014	22	0.029023746701846966	G	7.153	0.584146	0.13749	0.04115	0.015642	ENSG00000169509	ENST00000368790	T	0.47177	0.85	4.73	3.74	0.42951	.	0.000000	0.46442	D	0.000292	T	0.57475	0.2056	.	.	.	0.30777	P	0.74237	D	0.89917	1.0	D	0.85130	0.997	T	0.63418	-0.6642	8	0.87932	D	0	-38.9083	10.3495	0.43927	0.0:0.1997:0.8003:0.0	rs16834168;rs16834168	96	Q9UGL9	CRCT1_HUMAN	Y	96	ENSP00000357779:C96Y	ENSP00000357779:C96Y	C	+	2	0	CRCT1	150754770	0.985000	0.35326	0.987000	0.45799	0.238000	0.25445	1.916000	0.39986	2.300000	0.77407	0.650000	0.86243	TGC	G|0.916;A|0.084	0.084	strong		0.726	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034511.1	NM_019060		A	152488146	G	A	152488146	3	1	10	1	0	0	0	0	1	0	0	0	3853	1319	46	2	289	2	CRCT1	1	152488146	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	162221	152488146	96762475	23	1863										
GON4L	54856	hgsc.bcm.edu	37	chr1	155732033	155732033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccttctgctccctgagtggaTctcgctcgagaatgtcctca	9	14	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:155732033T>C	ENST00000368331.1	-	23	4907	c.4859A>G	c.(4858-4860)gAt>gGt	p.D1620G	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000271883.5_Missense_Mutation_p.D1620G|GON4L_ENST00000437809.1_Missense_Mutation_p.D1620G	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1620					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)					CCTGAGTGGATCTCGCTCGAG	0.537																																					p.D1620G		Atlas-SNP	.											GON4L_ENST00000368331,NS,carcinoma,-1,2	GON4L	392	2	0			c.A4859G						scavenged	.						66	64	65					1																	155732033		2025	4177	6202	SO:0001583	missense	54856	exon23			AGTGGATCTCGCT	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.4859A>G	1.37:g.155732033T>C	ENSP00000357315:p.Asp1620Gly	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	162	3	0.0185185	NM_001037533	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.145689	0.77888	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.50548	0.74;0.74;0.74	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	T	0.55854	-0.8075	10	0.72032	D	0.01	.	14.7661	0.69640	0.0:0.0:0.0:1.0	.	816;1620;1620	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	G	1620	ENSP00000396117:D1620G;ENSP00000357315:D1620G;ENSP00000271883:D1620G	ENSP00000271883:D1620G	D	-	2	0	GON4L	153998657	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	7.255000	0.78338	2.152000	0.67230	0.254000	0.18369	GAT	.	.	none		0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155732033	T	C	155732033	3	2	10	1	0	0	0	0	1	0	0	0	6572	1435	50	2	1903	2	GON4L	1	155732033	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3243887	155732033	93518588	24	1864										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158592861	158592861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccagcgcttcagcagagcgGcataacgctcttcaatggct	10	14	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:158592861G>T	ENST00000368147.4	-	43	6212	c.6032C>A	c.(6031-6033)gCc>gAc	p.A2011D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																					p.A2011D		Atlas-SNP	.											SPTA1,NS,carcinoma,+1,9	SPTA1	720	9	6	Substitution - Missense(6)	lung(4)|urinary_tract(1)|prostate(1)	c.C6032A						scavenged	.						267	267	267					1																	158592861		1943	4143	6086	SO:0001583	missense	6708	exon43			AGAGCGGCATAAC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>A	1.37:g.158592861G>T	ENSP00000357129:p.Ala2011Asp	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	241	3	0.0124481	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290558	0.10567	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	4.78	0.669	0.17918	.	.	.	.	.	T	0.11239	0.0274	L	0.39245	1.2	0.33091	D	0.537999	B	0.17852	0.024	B	0.21151	0.033	T	0.25293	-1.0136	9	0.02654	T	1	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	D	2011;2008	ENSP00000357130:A2011D;ENSP00000357129:A2008D	ENSP00000357129:A2008D	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC	.	.	none		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158592861	G	T	158592861	3	4	10	1	0	0	0	0	1	0	0	0	15115	1203	42	4	1267	4	SPTA1	1	158592861	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2860828	158592861	90657760	25	1865										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158617450	158617450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cattttctgtctctgcaggtCctcagtggcatctggatggg	12	10	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:158617450C>T	ENST00000368147.4	-	27	3955	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1259					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTGCAGGTCCTCAGTGGCA	0.532																																					p.D1259N		Atlas-SNP	.											SPTA1,NS,carcinoma,+2,1	SPTA1	720	1	0			c.G3775A						scavenged	.						85	85	85					1																	158617450		1967	4170	6137	SO:0001583	missense	6708	exon27			GCAGGTCCTCAGT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3775G>A	1.37:g.158617450C>T	ENSP00000357129:p.Asp1259Asn	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	138	3	0.0217391	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065721	0.55539	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	4.71	3.78	0.43462	.	0.245751	0.21100	N	0.080173	T	0.38480	0.1042	L	0.50333	1.59	0.41450	D	0.987975	P	0.37015	0.578	P	0.46208	0.507	T	0.31166	-0.9953	10	0.39692	T	0.17	.	13.9263	0.63964	0.0:0.8462:0.1538:0.0	.	1259	P02549	SPTA1_HUMAN	N	1259	ENSP00000357130:D1259N;ENSP00000357129:D1259N	ENSP00000357129:D1259N	D	-	1	0	SPTA1	156884074	1.000000	0.71417	0.835000	0.33067	0.452000	0.32318	5.370000	0.66144	1.299000	0.44798	0.563000	0.77884	GAC	.	.	none		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158617450	C	T	158617450	3	4	10	1	0	0	0	0	1	0	0	0	15115	855	30	2	3588	2	SPTA1	1	158617450	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	24589	158617450	90633171	26	1866										
PYHIN1	149628	hgsc.bcm.edu	37	chr1	158911833	158911833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttttccgagaagacccaataAtcgcgatggtactaaatgca	8	9	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:158911833A>G	ENST00000368140.1	+	5	891	c.646A>G	c.(646-648)Atc>Gtc	p.I216V	PYHIN1_ENST00000392254.2_Missense_Mutation_p.I216V|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I207V|PYHIN1_ENST00000368138.3_Missense_Mutation_p.I207V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	216	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGACCCAATAATCGCGATGGT	0.383																																					p.I216V		Atlas-SNP	.											PYHIN1_ENST00000392254,NS,carcinoma,-2,2	PYHIN1	208	2	0			c.A646G						scavenged	.						66	67	66					1																	158911833		2203	4300	6503	SO:0001583	missense	149628	exon5			CCAATAATCGCGA	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.646A>G	1.37:g.158911833A>G	ENSP00000357122:p.Ile216Val	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	88	2	0.0227273	NM_152501	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	2.353	-0.348425	0.05208	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	2.85	-3.74	0.04385	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03053	0.0090	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.16603	0.006;0.003;0.006;0.018	B;B;B;B	0.13407	0.005;0.007;0.005;0.009	T	0.43376	-0.9395	9	0.45353	T	0.12	.	9.4454	0.38695	0.3169:0.0:0.6831:0.0	.	207;216;207;216	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	V	216;207;216;207	ENSP00000357122:I216V;ENSP00000357120:I207V;ENSP00000376083:I216V;ENSP00000376082:I207V	ENSP00000357120:I207V	I	+	1	0	PYHIN1	157178457	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.668000	0.01959	-0.863000	0.04084	-0.290000	0.09829	ATC	.	.	none		0.383	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		G	158911833	A	G	158911833	3	3	10	1	0	0	0	0	1	0	0	0	12865	101	4	2	660	2	PYHIN1	1	158911833	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	294383	158911833	90338788	27	1867										
CADM3	57863	hgsc.bcm.edu	37	chr1	159170688	159170688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcgggcagtcaggaggggaCgacaagaaggaatatttcat	16	6	2	1	rs569300786		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:159170688C>T	ENST00000368125.4	+	9	1330	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.D425D|CTA-134P22.2_ENST00000415675.2_RNA|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	391					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAGGAGGGGACGACAAGAAGG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11580	0.0		0.0	False		,,,				2504	0.0				p.D425D		Atlas-SNP	.											CADM3,NS,carcinoma,0,1	CADM3	118	1	0			c.C1275T						scavenged	.						89	85	87					1																	159170688		2203	4300	6503	SO:0001819	synonymous_variant	57863	exon10			AGGGGACGACAAG	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1173C>T	1.37:g.159170688C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	146	3	0.0205479	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																			.	.	none		0.612	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		T	159170688	C	T	159170688	2	4	10	1	0	0	0	0	0	0	0	1	2568	535	19	1		1	CADM3	1	159170688	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	258855	159170688	90079933	28	1868										
TNN	63923	hgsc.bcm.edu	37	chr1	175097789	175097789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gttcagcagaacagcaatgcCgccagtggtctgtacaccat	10	12	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:175097789C>T	ENST00000239462.4	+	15	3350	c.3237C>T	c.(3235-3237)gcC>gcT	p.A1079A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1079	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACAGCAATGCCGCCAGTGGTC	0.582																																					p.A1079A		Atlas-SNP	.											TNN,NS,carcinoma,+2,1	TNN	297	1	0			c.C3237T						scavenged	.						102	97	99					1																	175097789		2203	4300	6503	SO:0001819	synonymous_variant	63923	exon15			CAATGCCGCCAGT	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3237C>T	1.37:g.175097789C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	190	2	0.0105263	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			.	.	none		0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175097789	C	T	175097789	2	4	10	1	0	0	0	0	0	0	0	1	16320	639	23	1		1	TNN	1	175097789	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	15927101	175097789	74152832	29	1869										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186008085	186008085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctggcatatataaatgcgtGgccatcaactcagctggagc	11	10	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:186008085G>A	ENST00000271588.4	+	38	6205	c.5976G>A	c.(5974-5976)gtG>gtA	p.V1992V	HMCN1_ENST00000367492.2_Silent_p.V1992V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1992	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATAAATGCGTGGCCATCAACT	0.433																																					p.V1992V		Atlas-SNP	.											HMCN1,NS,carcinoma,+2,1	HMCN1	797	1	0			c.G5976A						scavenged	.						109	101	104					1																	186008085		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon38			ATGCGTGGCCATC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5976G>A	1.37:g.186008085G>A		Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	362	4	0.0110497	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.	.	none		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186008085	G	A	186008085	2	1	10	1	0	0	0	0	0	0	0	1	7220	1335	47	2		2	HMCN1	1	186008085	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	10910296	186008085	63242536	30	1870										
RGS18	64407	hgsc.bcm.edu	37	chr1	192153517	192153517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgctgcacaaagcagagtgTatcagctcatggaacaagac	10	9	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:192153517T>C	ENST00000367460.3	+	5	722	c.541T>C	c.(541-543)Tat>Cat	p.Y181H		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	181	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCAGAGTGTATCAGCTCAT	0.398																																					p.Y181H		Atlas-SNP	.											RGS18,right_upper_lobe,carcinoma,-2,1	RGS18	54	1	0			c.T541C						scavenged	.						145	136	139					1																	192153517		2203	4300	6503	SO:0001583	missense	64407	exon5			AGAGTGTATCAGC	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.541T>C	1.37:g.192153517T>C	ENSP00000356430:p.Tyr181His	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_130782	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765516	0.69878	.	.	ENSG00000150681	ENST00000367460	T	0.66280	-0.2	5.62	5.62	0.85841	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.053083	0.85682	D	0.000000	T	0.80675	0.4668	M	0.86573	2.825	0.80722	D	1	D	0.55605	0.972	D	0.68039	0.955	T	0.82784	-0.0286	10	0.48119	T	0.1	.	14.661	0.68870	0.0:0.0:0.0:1.0	.	181	Q9NS28	RGS18_HUMAN	H	181	ENSP00000356430:Y181H	ENSP00000356430:Y181H	Y	+	1	0	RGS18	190420140	1.000000	0.71417	0.710000	0.30468	0.963000	0.63663	7.534000	0.82004	2.140000	0.66376	0.460000	0.39030	TAT	.	.	none		0.398	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		C	192153517	T	C	192153517	3	2	10	1	0	0	0	0	1	0	0	0	13300	1638	57	2	559	2	RGS18	1	192153517	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	6145432	192153517	57097104	31	1871										
KCNT2	343450	hgsc.bcm.edu	37	chr1	196342346	196342346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acagtttaaagctaacatggCgtatttaaactcttcttcac	5	9	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:196342346C>T	ENST00000294725.9	-	14	2242	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A443T|KCNT2_ENST00000367433.5_Missense_Mutation_p.A443T|KCNT2_ENST00000609185.1_Missense_Mutation_p.A443T|KCNT2_ENST00000451324.2_Missense_Mutation_p.A54T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	443	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTAACATGGCGTATTTAAAC	0.289																																					p.A443T		Atlas-SNP	.											KCNT2,NS,carcinoma,+2,1	KCNT2	243	1	0			c.G1327A						scavenged	.						89	90	90					1																	196342346		2203	4294	6497	SO:0001583	missense	343450	exon14			ACATGGCGTATTT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1327G>A	1.37:g.196342346C>T	ENSP00000294725:p.Ala443Thr	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	187	2	0.0106952	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988851	0.93106	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000006	T	0.71821	0.3385	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.968;1.0	D;D;P;D	0.79108	0.992;0.931;0.56;0.992	T	0.74503	-0.3644	10	0.72032	D	0.01	-12.1203	18.4944	0.90860	0.0:1.0:0.0:0.0	.	443;443;443;443	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	T	443;443;264;54;443	ENSP00000356403:A443T;ENSP00000356401:A443T;ENSP00000405474:A54T;ENSP00000294725:A443T	ENSP00000294725:A443T	A	-	1	0	KCNT2	194608969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.106000	0.77039	2.728000	0.93425	0.650000	0.86243	GCC	.	.	none		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196342346	C	T	196342346	3	4	10	1	0	0	0	0	1	0	0	0	8092	768	27	1	2140	1	KCNT2	1	196342346	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4188829	196342346	52908275	32	1872										
C4BPA	722	hgsc.bcm.edu	37	chr1	207300202	207300202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtaattcattgtgatgctgAtagcaaatggaatccttctc	8	7	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:207300202A>G	ENST00000367070.3	+	7	1045	c.851A>G	c.(850-852)gAt>gGt	p.D284G		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTGATGCTGATAGCAAATGG	0.403																																					p.D284G		Atlas-SNP	.											C4BPA,NS,carcinoma,0,1	C4BPA	70	1	0			c.A851G						scavenged	.						178	150	160					1																	207300202		2203	4300	6503	SO:0001583	missense	722	exon7			ATGCTGATAGCAA	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.851A>G	1.37:g.207300202A>G	ENSP00000356037:p.Asp284Gly	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	288	3	0.0104167	NM_000715	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052883	0.36181	.	.	ENSG00000123838	ENST00000367070	T	0.68181	-0.31	5.61	4.49	0.54785	Complement control module (2);Sushi/SCR/CCP (3);	0.333263	0.25680	N	0.029005	T	0.66268	0.2772	L	0.55213	1.73	0.09310	N	1	B	0.29481	0.245	B	0.41202	0.35	T	0.60782	-0.7195	10	0.48119	T	0.1	.	8.4965	0.33132	0.9117:0.0:0.0883:0.0	.	284	P04003	C4BPA_HUMAN	G	284	ENSP00000356037:D284G	ENSP00000356037:D284G	D	+	2	0	C4BPA	205366825	0.028000	0.19301	0.002000	0.10522	0.115000	0.19883	3.238000	0.51352	0.945000	0.37605	-0.386000	0.06593	GAT	.	.	none		0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			G	207300202	A	G	207300202	3	3	10	1	0	0	0	0	1	0	0	0	2249	333	12	2	873	2	C4BPA	1	207300202	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	10957856	207300202	41950419	33	1873										
CR1	1378	hgsc.bcm.edu	37	chr1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	12	5	0	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408																																					p.E2220X		Atlas-SNP	.											CR1_ENST00000367049,NS,carcinoma,0,12	CR1	354	12	12	Substitution - Nonsense(12)	kidney(8)|endometrium(4)	c.G6658T						scavenged	.						131	122	125					1																	207787831		1887	4127	6014	SO:0001587	stop_gained	1378	exon40			GTGTGTGAACGTG	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6658G>T	1.37:g.207787831G>T	ENSP00000356016:p.Glu2220*	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	237	3	0.0126582	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061806	0.99632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	.	.	.	X	1770;1770;1770;1770;2220	.	ENSP00000356016:E2220X	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA	.	.	none		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207787831	G	T	207787831	4	4	10	1	0	0	0	0	0	1	0	0	3840	1291	45	4	6816	4	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	487629	207787831	41462790	34	1874										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226924388	226924388	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actggcagggatacccttctCcatccttacaaaagcggatg	9	12	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:226924388C>G	ENST00000272117.3	-	1	771	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	ITPKB_ENST00000366784.1_Missense_Mutation_p.E258Q|ITPKB_ENST00000429204.1_Missense_Mutation_p.E258Q			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	258					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATACCCTTCTCCATCCTTACA	0.597																																					p.E258Q	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.G772C						PASS	.						49	48	49					1																	226924388		2203	4300	6503	SO:0001583	missense	3707	exon2			CCTTCTCCATCCT	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.772G>C	1.37:g.226924388C>G	ENSP00000272117:p.Glu258Gln	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	134	62	0.462687	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159960	0.57368	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.35973	1.32;1.32;1.28	4.6	3.68	0.42216	.	0.263808	0.27064	N	0.021114	T	0.23014	0.0556	N	0.24115	0.695	0.27144	N	0.961579	P	0.50443	0.935	B	0.42245	0.381	T	0.06588	-1.0818	10	0.21014	T	0.42	-16.2733	10.3145	0.43729	0.0:0.905:0.0:0.095	.	258	P27987	IP3KB_HUMAN	Q	258	ENSP00000272117:E258Q;ENSP00000411152:E258Q;ENSP00000355748:E258Q	ENSP00000272117:E258Q	E	-	1	0	ITPKB	224991011	0.888000	0.30383	0.751000	0.31187	0.218000	0.24690	1.098000	0.31000	1.137000	0.42214	0.561000	0.74099	GAG	.	.	none		0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		G	226924388	C	G	226924388	3	3	10	1	0	0	0	0	1	0	0	0	7918	864	30	4	2096	4	ITPKB	1	226924388	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	19136557	226924388	22326233	35	1875										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226925148	226925148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aggctattgagcgcatagcaGtacacagccatagtactggg	12	9	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:226925148G>A	ENST00000272117.3	-	1	11	c.12C>T	c.(10-12)taC>taT	p.Y4Y	ITPKB_ENST00000366784.1_Silent_p.Y4Y|ITPKB_ENST00000429204.1_Silent_p.Y4Y			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	4					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCGCATAGCAGTACACAGCCA	0.726																																					p.Y4Y	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.C12T						PASS	.						17	20	19					1																	226925148		2139	4199	6338	SO:0001819	synonymous_variant	3707	exon2			ATAGCAGTACACA	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.12C>T	1.37:g.226925148G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	33	7	0.212121	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																			.	.	none		0.726	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226925148	G	A	226925148	2	1	10	1	0	0	0	0	0	0	0	1	7918	1024	36	2		2	ITPKB	1	226925148	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	760	226925148	22325473	36	1876										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228434398	228434398	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaagtgcgcatagaggctgcGggctgcatgcggcagctggt	17	9	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:228434398G>T	ENST00000422127.1	+	13	3971	c.3927G>T	c.(3925-3927)gcG>gcT	p.A1309A	OBSCN_ENST00000570156.2_Silent_p.A1401A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A1309A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1309	Ig-like 13.				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)				TAGAGGCTGCGGGCTGCATGC	0.637																																					p.A1401A		Atlas-SNP	.											OBSCN_ENST00000570156,NS,carcinoma,0,6	OBSCN	2142	6	0			c.G4203T						scavenged	.						76	82	80					1																	228434398		2050	4201	6251	SO:0001819	synonymous_variant	84033	exon14			GGCTGCGGGCTGC	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.3927G>T	1.37:g.228434398G>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	256	3	0.0117188	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.	.	none		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228434398	G	T	228434398	2	4	10	1	0	0	0	0	0	0	0	1	10812	1103	39	4		4	OBSCN	1	228434398	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1509250	228434398	20816223	37	1877										
KCNK1	3775	hgsc.bcm.edu	37	chr1	233802348	233802348	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gttctccttgcaggttatggCcacaccgtgcccttgtcaga	10	13	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:233802348C>G	ENST00000366621.3	+	2	531	c.363C>G	c.(361-363)ggC>ggG	p.G121G	KCNK1_ENST00000366620.1_Silent_p.G5G|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	121					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CAGGTTATGGCCACACCGTGC	0.502																																					p.G121G		Atlas-SNP	.											KCNK1,colon,carcinoma,+1,1	KCNK1	36	1	0			c.C363G						PASS	.						166	119	135					1																	233802348		2203	4300	6503	SO:0001819	synonymous_variant	3775	exon2			TTATGGCCACACC	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.363C>G	1.37:g.233802348C>G		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	230	108	0.469565	NM_002245	Q13307|Q5T5E8	Silent	SNP	ENST00000366621.3	37	CCDS1599.1																																																																																			.	.	none		0.502	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		G	233802348	C	G	233802348	2	3	10	1	0	0	0	0	0	0	0	1	8058	726	26	4		4	KCNK1	1	233802348	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5367950	233802348	15448273	38	1878										
CEP170	9859	hgsc.bcm.edu	37	chr1	243328077	243328077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccagtttggaatgtacatgcTcatcagctgaggtaagtgga	12	7	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:243328077T>C	ENST00000366542.1	-	13	3236	c.3185A>G	c.(3184-3186)gAg>gGg	p.E1062G	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.E964G|CEP170_ENST00000366544.1_Missense_Mutation_p.E964G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1062	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATGTACATGCTCATCAGCTGA	0.423																																					p.E1062G		Atlas-SNP	.											CEP170_ENST00000366543,NS,carcinoma,+1,2	CEP170	153	2	0			c.A3185G						scavenged	.						33	30	31					1																	243328077		1813	4041	5854	SO:0001583	missense	9859	exon13			ACATGCTCATCAG	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3185A>G	1.37:g.243328077T>C	ENSP00000355500:p.Glu1062Gly	Somatic	312	1	0.00320513		WXS	Illumina HiSeq	Phase_I	368	5	0.013587	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.88|11.88	1.770320|1.770320	0.31320|0.31320	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.49720|.	0.8;0.78;0.77|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.124834|.	0.64402|.	D|.	0.000010|.	T|T	0.51261|0.51261	0.1664|0.1664	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.991;0.996;0.996;0.999|.	D;D;D;D|.	0.77557|.	0.921;0.986;0.986;0.99|.	T|T	0.48317|0.48317	-0.9046|-0.9046	9|5	.|.	.|.	.|.	-15.5611|-15.5611	14.1711|14.1711	0.65510|0.65510	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1025;964;964;1062|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	G|G	1062;964;964;23|1026	ENSP00000355500:E1062G;ENSP00000355502:E964G;ENSP00000355501:E964G|.	.|.	E|S	-|-	2|1	0|0	CEP170|CEP170	241394700|241394700	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.985000|0.985000	0.73830|0.73830	7.446000|7.446000	0.80609|0.80609	1.937000|1.937000	0.56155|0.56155	0.454000|0.454000	0.30748|0.30748	GAG|AGC	.	.	none		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		C	243328077	T	C	243328077	3	2	10	1	0	0	0	0	1	0	0	0	3250	1551	54	3	1631	3	CEP170	1	243328077	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	9525729	243328077	5922544	39	1879										
OR2W3	343171	hgsc.bcm.edu	37	chr1	248059470	248059470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcctgcgtcagcactgtggcCatcgaaggcaccgtctttgt	12	13	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr1:248059470C>T	ENST00000360358.3	+	1	582	c.582C>T	c.(580-582)gcC>gcT	p.A194A	OR2W3_ENST00000537741.1_Silent_p.A194A	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCACTGTGGCCATCGAAGGCA	0.597																																					p.A194A		Atlas-SNP	.											OR2W3,right_lower_lobe,carcinoma,+2,1	OR2W3	113	1	0			c.C582T						PASS	.						143	122	130					1																	248059470		2203	4300	6503	SO:0001819	synonymous_variant	343171	exon1			TGTGGCCATCGAA	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.582C>T	1.37:g.248059470C>T		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	298	64	0.214765	NM_001001957	Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	CCDS31099.1																																																																																			.	.	none		0.597	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		T	248059470	C	T	248059470	2	4	10	1	0	0	0	0	0	0	0	1	11033	581	21	2		2	OR2W3	1	248059470	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4731393	248059470	1191151	40	1880										
DPYSL5	56896	hgsc.bcm.edu	37	chr2	27147877	27147877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccaaggtctgctgtgattaCgccctccacgtggggatcac	11	14	2	1	rs147434661		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:27147877C>T	ENST00000288699.6	+	3	542	c.384C>T	c.(382-384)taC>taT	p.Y128Y	DPYSL5_ENST00000401478.1_Silent_p.Y128Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	128					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTGATTACGCCCTCCACG	0.602																																					p.Y128Y		Atlas-SNP	.											.	DPYSL5	69	.	0			c.C384T						PASS	.	C		0,4406		0,0,2203	100	87	91		384	-3.6	1	2	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DPYSL5	NM_020134.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		128/565	27147877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56896	exon3			TGATTACGCCCTC	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.384C>T	2.37:g.27147877C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	105	34	0.32381	NM_001253724	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	CCDS1730.1																																																																																			C|1.000;T|0.000	0.000	weak		0.602	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		T	27147877	C	T	27147877	2	4	10	1	0	0	0	0	0	0	0	1	4750	547	19	1		1	DPYSL5	2	27147877	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10		27147877	216051496	41	1881										
ALK	238	hgsc.bcm.edu	37	chr2	29498090	29498090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcaggatcttgtcctctccgCtaactgcaatagagaagacc	9	12	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:29498090C>T	ENST00000389048.3	-	11	2822	c.1916G>A	c.(1915-1917)aGc>aAc	p.S639N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	639					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTCCTCTCCGCTAACTGCAAT	0.498			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.S639N		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,NS,carcinoma,+1,1	ALK	533	1	0			c.G1916A						scavenged	.						77	77	77					2																	29498090		2203	4300	6503	SO:0001583	missense	238	exon11	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TCTCCGCTAACTG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1916G>A	2.37:g.29498090C>T	ENSP00000373700:p.Ser639Asn	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	209	3	0.0143541	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	3.512	-0.099550	0.07010	.	.	ENSG00000171094	ENST00000389048	T	0.77229	-1.08	5.21	3.07	0.35406	.	0.372941	0.22711	U	0.056578	T	0.55909	0.1950	N	0.12182	0.205	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45396	-0.9264	9	.	.	.	.	8.1773	0.31289	0.0:0.7861:0.0:0.2139	.	639	Q9UM73	ALK_HUMAN	N	639	ENSP00000373700:S639N	.	S	-	2	0	ALK	29351594	0.861000	0.29849	0.994000	0.49952	0.038000	0.13279	1.327000	0.33746	1.202000	0.43218	-0.258000	0.10820	AGC	.	.	none		0.498	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29498090	C	T	29498090	3	4	10	1	0	0	0	0	1	0	0	0	525	797	28	2	3022	2	ALK	2	29498090	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2350213	29498090	213701283	42	1882										
THADA	63892	hgsc.bcm.edu	37	chr2	43779431	43779431	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcctgaagcagagaattttCagcctgagatacttcttcct	8	10	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:43779431C>T	ENST00000405006.4	-	18	3073	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	THADA_ENST00000415080.2_Missense_Mutation_p.E618K|THADA_ENST00000405975.2_Missense_Mutation_p.E908K|THADA_ENST00000402360.2_Missense_Mutation_p.E908K|THADA_ENST00000330266.7_Missense_Mutation_p.E618K	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	908								p.E908K(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAGAATTTTCAGCCTGAGAT	0.368																																					p.E908K		Atlas-SNP	.											THADA,NS,carcinoma,0,1	THADA	131	1	1	Substitution - Missense(1)	endometrium(1)	c.G2722A						scavenged	.						54	53	53					2																	43779431		1871	4116	5987	SO:0001583	missense	63892	exon18			AATTTTCAGCCTG	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2722G>A	2.37:g.43779431C>T	ENSP00000385995:p.Glu908Lys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	191	2	0.0104712	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872053	0.33069	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360	T;T;T;T;T	0.32272	1.46;2.83;2.69;2.83;1.5	5.86	4.99	0.66335	Armadillo-type fold (1);	0.108059	0.64402	N	0.000009	T	0.25754	0.0627	L	0.49350	1.555	0.47547	D	0.999452	P;B;B;B;P	0.42556	0.783;0.058;0.374;0.431;0.635	B;B;B;B;B	0.39562	0.303;0.017;0.102;0.065;0.108	T	0.04203	-1.0969	10	0.10636	T	0.68	.	11.5298	0.50601	0.0:0.8464:0.0:0.1536	.	618;909;908;618;908	Q6YHU6-2;B6ZDQ0;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	K	618;908;909;618;908;908	ENSP00000331105:E618K;ENSP00000386088:E908K;ENSP00000416048:E618K;ENSP00000385995:E908K;ENSP00000385441:E908K	ENSP00000331105:E618K	E	-	1	0	THADA	43632935	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	3.727000	0.54984	1.492000	0.48499	0.591000	0.81541	GAA	.	.	none		0.368	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		T	43779431	C	T	43779431	3	4	10	1	0	0	0	0	1	0	0	0	15837	835	29	2	3223	2	THADA	2	43779431	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	14281341	43779431	199419942	43	1883										
NRXN1	9378	hgsc.bcm.edu	37	chr2	50724589	50724589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	catagaagtgtaggcttgcaAggtagctaaggcaacatagc	12	7	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:50724589A>G	ENST00000406316.2	-	14	4237	c.2761T>C	c.(2761-2763)Ttg>Ctg	p.L921L	NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Silent_p.L913L|NRXN1_ENST00000405472.3_Silent_p.L913L|NRXN1_ENST00000404971.1_Silent_p.L961L|NRXN1_ENST00000406859.3_Silent_p.L921L|NRXN1_ENST00000401669.2_Silent_p.L921L|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	921	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGGCTTGCAAGGTAGCTAAG	0.398																																					p.L961L		Atlas-SNP	.											NRXN1_ENST00000536085,right_upper_lobe,carcinoma,+1,3	NRXN1	1118	3	0			c.T2881C						scavenged	.						134	123	126					2																	50724589		1931	4162	6093	SO:0001819	synonymous_variant	9378	exon15			CTTGCAAGGTAGC	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2761T>C	2.37:g.50724589A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			.	.	none		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			G	50724589	A	G	50724589	2	3	10	1	0	0	0	0	0	0	0	1	10665	69	3	3		3	NRXN1	2	50724589	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	6945158	50724589	192474784	44	1884										
REL	5966	hgsc.bcm.edu	37	chr2	61147230	61147230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aactctgcttttccagaaacTgtgccaggatcacggtaaga	9	10	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:61147230T>A	ENST00000295025.8	+	8	1228	c.908T>A	c.(907-909)cTg>cAg	p.L303Q	REL_ENST00000394479.3_Missense_Mutation_p.L303Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	303					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TTCCAGAAACTGTGCCAGGAT	0.289			A		Hodgkin Lymphoma																																p.L303Q		Atlas-SNP	.		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	REL	48	.	0			c.T908A						PASS	.						79	80	80					2																	61147230		2203	4300	6503	SO:0001583	missense	5966	exon8			AGAAACTGTGCCA	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.908T>A	2.37:g.61147230T>A	ENSP00000295025:p.Leu303Gln	Somatic	403	0	0		WXS	Illumina HiSeq	Phase_I	444	163	0.367117	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188258	0.57909	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.48522	0.81;0.81	5.49	5.49	0.81192	Immunoglobulin E-set (1);	0.423339	0.21659	N	0.071053	T	0.63319	0.2501	L	0.59436	1.845	0.42356	D	0.992391	D;D	0.89917	0.999;1.0	D;D	0.71184	0.956;0.972	T	0.63427	-0.6640	10	0.46703	T	0.11	-42.4869	13.2498	0.60045	0.0:0.0:0.0:1.0	.	303;303	Q17RU2;Q04864	.;REL_HUMAN	Q	303	ENSP00000295025:L303Q;ENSP00000377989:L303Q	ENSP00000295025:L303Q	L	+	2	0	REL	61000734	0.935000	0.31712	0.991000	0.47740	0.502000	0.33828	4.438000	0.59961	2.213000	0.71641	0.397000	0.26171	CTG	.	.	none		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		A	61147230	T	A	61147230	3	1	10	1	0	0	0	0	1	0	0	0	13215	1580	55	5	938	5	REL	2	61147230	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	10422641	61147230	182052143	45	1885										
FAM161A	84140	hgsc.bcm.edu	37	chr2	62081028	62081028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctgagccactttctcctccTcttcgtcctccaagatcgcc	6	18	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:62081028T>C	ENST00000405894.3	-	1	250	c.149A>G	c.(148-150)gAg>gGg	p.E50G	FAM161A_ENST00000404929.1_Missense_Mutation_p.E50G	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	50	Poly-Glu.				cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTCTCCTCCTCTTCGTCCTC	0.657																																					p.E50G		Atlas-SNP	.											FAM161A_ENST00000405894,NS,carcinoma,-1,1	FAM161A	200	1	0			c.A149G						scavenged	.						48	48	48					2																	62081028		1568	3582	5150	SO:0001583	missense	84140	exon1			TCCTCCTCTTCGT		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.149A>G	2.37:g.62081028T>C	ENSP00000385893:p.Glu50Gly	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	174	2	0.0114943	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896197	0.33442	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.66638	-0.22;-0.22	4.36	4.36	0.52297	.	.	.	.	.	T	0.53769	0.1817	N	0.14661	0.345	0.09310	N	1	P;P	0.40731	0.608;0.728	B;B	0.43623	0.244;0.425	T	0.50550	-0.8815	9	0.87932	D	0	.	10.2378	0.43294	0.0:0.0:0.0:1.0	.	50;50	Q3B820;Q3B820-3	F161A_HUMAN;.	G	50	ENSP00000385158:E50G;ENSP00000385893:E50G	ENSP00000303170:E50G	E	-	2	0	FAM161A	61934532	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.216000	0.09266	2.192000	0.70111	0.533000	0.62120	GAG	.	.	none		0.657	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62081028	T	C	62081028	3	2	10	1	0	0	0	0	1	0	0	0	5472	1551	54	3	1857	3	FAM161A	2	62081028	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	933798	62081028	181118345	46	1886										
ANKRD53	79998	hgsc.bcm.edu	37	chr2	71212171	71212171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agtggacggccactgggtggCgcccgtgccgcggctgcctt	17	14	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:71212171C>T	ENST00000360589.3	+	6	1368	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000457410.1_Missense_Mutation_p.A411V|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	445										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACTGGGTGGCGCCCGTGCCG	0.652											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A445V		Atlas-SNP	.											.	ANKRD53	55	.	0			c.C1334T						PASS	.						7	10	9					2																	71212171		683	1580	2263	SO:0001583	missense	79998	exon6			GGGTGGCGCCCGT	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.1334C>T	2.37:g.71212171C>T	ENSP00000353796:p.Ala445Val	Somatic	39	0	0	1128	WXS	Illumina HiSeq	Phase_I	22	5	0.227273	NM_001115116	Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669230	0.47677	.	.	ENSG00000144031	ENST00000457410;ENST00000360589	T;T	0.64085	0.01;-0.08	5.16	-0.376	0.12505	.	1.236970	0.05473	N	0.553515	T	0.40791	0.1131	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	B	0.34873	0.191	T	0.38090	-0.9677	10	0.40728	T	0.16	-1.5817	2.8344	0.05509	0.2989:0.3228:0.2918:0.0865	.	445	Q8N9V6	ANR53_HUMAN	V	411;445	ENSP00000407004:A411V;ENSP00000353796:A445V	ENSP00000353796:A445V	A	+	2	0	ANKRD53	71065679	0.000000	0.05858	0.006000	0.13384	0.054000	0.15201	-0.783000	0.04638	0.076000	0.16826	0.561000	0.74099	GCG	.	.	none		0.652	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		T	71212171	C	T	71212171	3	4	10	1	0	0	0	0	1	0	0	0	679	768	27	1	1487	1	ANKRD53	2	71212171	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	9131143	71212171	171987202	47	1887										
DYSF	8291	hgsc.bcm.edu	37	chr2	71748030	71748030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctggggcctggggacgaagCgcctgtgagtacatttccct	15	11	0	1	rs115279465	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:71748030C>T	ENST00000258104.3	+	11	1326	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	DYSF_ENST00000409651.1_Missense_Mutation_p.A382V|DYSF_ENST00000429174.2_Missense_Mutation_p.A350V|DYSF_ENST00000410041.1_Missense_Mutation_p.A382V|DYSF_ENST00000413539.2_Missense_Mutation_p.A381V|DYSF_ENST00000409744.1_Missense_Mutation_p.A351V|DYSF_ENST00000409582.3_Missense_Mutation_p.A381V|DYSF_ENST00000410020.3_Missense_Mutation_p.A382V|DYSF_ENST00000409366.1_Missense_Mutation_p.A351V|DYSF_ENST00000409762.1_Missense_Mutation_p.A381V|DYSF_ENST00000394120.2_Missense_Mutation_p.A351V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	350					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						GGGGACGAAGCGCCTGTGAGT	0.547													C|||	34	0.00678914	0.0242	0.0	5008	,	,		16178	0.002		0.0	False		,,,				2504	0.0				p.A382V		Atlas-SNP	.											DYSF_ENST00000410020,bladder,carcinoma,-1,2	DYSF	536	2	0			c.C1145T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	39,4367	43.1+/-76.7	0,39,2164	86	73	77		1052,1049,1049,1049,1142,1142,1142,1145,1052,1052,1145,1052,1145,1049	5.2	1	2	dbSNP_132	77	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	64,64,64,64,64,64,64,64,64,64,64,64,64,64	0,39,6464	TT,TC,CC		0.0,0.8852,0.2999	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	351/2082,350/2067,350/2088,350/2102,381/2112,381/2098,381/2119,382/2113,351/2103,351/2089,382/2099,351/2068,382/2120,350/2081	71748030	39,12967	2203	4300	6503	SO:0001583	missense	8291	exon12			ACGAAGCGCCTGT	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.1049C>T	2.37:g.71748030C>T	ENSP00000258104:p.Ala350Val	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	213	74	0.347418	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	16	0.007326007326007326	14	0.028455284552845527	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	18.71	3.681825	0.68042	0.008852	0.0	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.234979	0.43919	D	0.000501	T	0.51449	0.1675	N	0.25245	0.725	0.31618	N	0.65062	P;P;P;P;B;P;B;P;P;P;P;P;P;P	0.49559	0.775;0.775;0.775;0.648;0.423;0.622;0.423;0.925;0.775;0.633;0.797;0.648;0.775;0.812	B;B;B;B;B;B;B;P;B;B;P;B;B;P	0.49528	0.231;0.335;0.435;0.315;0.135;0.207;0.135;0.614;0.231;0.207;0.598;0.315;0.435;0.571	T	0.66015	-0.6028	10	0.20046	T	0.44	-3.0016	12.5642	0.56300	0.0:0.8325:0.1675:0.0	.	382;382;351;351;382;351;381;350;381;381;350;350;351;350	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	381;381;381;350;350;382;351;351;351;382;382	ENSP00000407046:A381V;ENSP00000387137:A381V;ENSP00000386547:A381V;ENSP00000398305:A350V;ENSP00000258104:A350V;ENSP00000386683:A382V;ENSP00000377678:A351V;ENSP00000386285:A351V;ENSP00000386512:A351V;ENSP00000386881:A382V;ENSP00000386617:A382V	ENSP00000258104:A350V	A	+	2	0	DYSF	71601538	1.000000	0.71417	0.962000	0.40283	0.318000	0.28184	4.576000	0.60915	2.663000	0.90544	0.536000	0.68110	GCG	C|0.995;T|0.005	0.005	strong		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71748030	C	T	71748030	3	4	10	1	0	0	0	0	1	0	0	0	4859	768	27	1	1283	1	DYSF	2	71748030	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	535859	71748030	171451343	48	1888										
C2orf7	84279	hgsc.bcm.edu	37	chr2	73455927	73455927	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcaaggagccctcacccgtCtcggccgagcaggaagaggg	16	13	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:73455927C>T	ENST00000258083.2	-	4	509	c.442G>A	c.(442-444)Gac>Aac	p.D148N	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	148	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACCCGTCTCGGCCGAGC	0.592																																					p.D148N		Atlas-SNP	.											PRADC1,NS,carcinoma,+2,1	PRADC1	15	1	0			c.G442A						scavenged	.						35	32	33					2																	73455927		2203	4300	6503	SO:0001583	missense	84279	exon4			ACCCGTCTCGGCC	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.442G>A	2.37:g.73455927C>T	ENSP00000258083:p.Asp148Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	96	2	0.0208333	NM_032319	Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006534	0.54361	.	.	ENSG00000135617	ENST00000258083	T	0.08193	3.12	4.64	4.64	0.57946	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.46614	1.455	0.58432	D	0.999999	D	0.62365	0.991	D	0.80764	0.994	T	0.02958	-1.1089	10	0.16896	T	0.51	.	16.5993	0.84807	0.0:1.0:0.0:0.0	.	148	Q9BSG0	PADC1_HUMAN	N	148	ENSP00000258083:D148N	ENSP00000258083:D148N	D	-	1	0	PRADC1	73309435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.467000	0.73547	2.576000	0.86940	0.655000	0.94253	GAC	.	.	none		0.592	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		T	73455927	C	T	73455927	3	4	10	1	0	0	0	0	1	0	0	0	2189	913	32	2	132	2	C2orf7	2	73455927	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1707897	73455927	169743446	49	1889										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96810595	96810595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcagagcacagatcgggacAgcagccctggaagccgtcga	13	13	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:96810595A>C	ENST00000288943.4	-	2	500	c.415T>G	c.(415-417)Tgt>Ggt	p.C139G	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	139	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				AGATCGGGACAGCAGCCCTGG	0.692																																					p.C139G		Atlas-SNP	.											.	DUSP2	20	.	0			c.T415G						PASS	.						15	21	19					2																	96810595		2119	4214	6333	SO:0001583	missense	1844	exon2			CGGGACAGCAGCC	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.415T>G	2.37:g.96810595A>C	ENSP00000288943:p.Cys139Gly	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_004418	Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791720	0.31685	.	.	ENSG00000158050	ENST00000288943	T	0.35421	1.31	4.31	4.31	0.51392	Rhodanese-like (4);	0.305675	0.32258	N	0.006346	T	0.27933	0.0688	L	0.49778	1.585	0.35359	D	0.788057	P	0.38335	0.627	B	0.28916	0.096	T	0.47947	-0.9077	10	0.66056	D	0.02	.	9.8111	0.40824	1.0:0.0:0.0:0.0	.	139	Q05923	DUS2_HUMAN	G	139	ENSP00000288943:C139G	ENSP00000288943:C139G	C	-	1	0	DUSP2	96174322	0.132000	0.22450	0.778000	0.31720	0.171000	0.22731	3.037000	0.49775	1.812000	0.52913	0.374000	0.22700	TGT	.	.	none		0.692	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		C	96810595	A	C	96810595	3	2	10	1	0	0	0	0	1	0	0	0	4819	188	7	5	541	5	DUSP2	2	96810595	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	23354668	96810595	146388778	50	1890										
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97790211	97790211	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttttagatcagccctcatacAtgctgttactcttggagaaa	7	9	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:97790211A>T	ENST00000461153.2	+	5	852	c.608A>T	c.(607-609)cAt>cTt	p.H203L	ANKRD36_ENST00000420699.2_Missense_Mutation_p.H203L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	203								p.H203L(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCCCTCATACATGCTGTTACT	0.323																																					p.H203L		Atlas-SNP	.											ANKRD36_ENST00000420699,extremity,malignant_melanoma,0,2	ANKRD36	170	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.A608T						scavenged	.						79	60	65					2																	97790211		692	1589	2281	SO:0001583	missense	375248	exon5			TCATACATGCTGT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.608A>T	2.37:g.97790211A>T	ENSP00000419530:p.His203Leu	Somatic	266	4	0.0150376		WXS	Illumina HiSeq	Phase_I	202	5	0.0247525	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.781271	0.00634	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000455519	T;T	0.60920	0.15;0.15	0.946	-0.341	0.12639	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.16642	0.0400	N	0.00855	-1.145	0.47511	D	0.999447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37384	-0.9708	9	0.02654	T	1	.	3.0347	0.06118	0.3942:0.0:0.0:0.6058	.	203;203	A6QL64;F2Z332	AN36A_HUMAN;.	L	203	ENSP00000419530:H203L;ENSP00000391950:H203L	ENSP00000377149:H203L	H	+	2	0	ANKRD36	97153938	0.990000	0.36364	0.731000	0.30826	0.427000	0.31564	0.125000	0.15749	-0.131000	0.11578	-1.495000	0.00966	CAT	.	.	none		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			T	97790211	A	T	97790211	3	4	10	1	0	0	0	0	1	0	0	0	665	217	8	5	626	5	ANKRD36	2	97790211	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	979616	97790211	145409162	51	1891										
PAX8	7849	hgsc.bcm.edu	37	chr2	114004442	114004442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcgctggcggaccacttccGgcagaggtctgccattcaca	12	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:114004442G>A	ENST00000429538.3	-	3	274	c.80C>T	c.(79-81)cCg>cTg	p.P27L	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P27L|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P27L|PAX8_ENST00000263335.7_Missense_Mutation_p.P27L|PAX8_ENST00000348715.5_Missense_Mutation_p.P27L|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	27	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GACCACTTCCGGCAGAGGTCT	0.622			T	PPARG	follicular thyroid		Thyroid dysgenesis																														p.P27L	Ovarian(188;7 2067 9084 29802 29892)	Atlas-SNP	.		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	PAX8	42	.	0			c.C80T						PASS	.						33	38	37					2																	114004442		2100	4256	6356	SO:0001583	missense	7849	exon3			ACTTCCGGCAGAG	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.80C>T	2.37:g.114004442G>A	ENSP00000395498:p.Pro27Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	168	71	0.422619	NM_013952	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504596	0.85176	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.994;1.0;0.998;0.995	D	0.96959	0.9700	10	0.87932	D	0	.	16.0313	0.80579	0.0:0.0:1.0:0.0	.	27;27;27;27;27	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	L	27	ENSP00000263335:P27L;ENSP00000380768:P27L;ENSP00000314750:P27L;ENSP00000395498:P27L;ENSP00000263334:P27L	ENSP00000263334:P27L	P	-	2	0	PAX8	113720912	1.000000	0.71417	0.940000	0.37924	0.600000	0.36913	9.796000	0.99103	2.382000	0.81193	0.655000	0.94253	CCG	.	.	none		0.622	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			A	114004442	G	A	114004442	3	1	10	1	0	0	0	0	1	0	0	0	11485	1116	39	1	1187	1	PAX8	2	114004442	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	16214231	114004442	129194931	52	1892										
SAP130	79595	hgsc.bcm.edu	37	chr2	128758026	128758026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctggatagacaaggttggcCtactgaaaagataacaaaga	11	6	0	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:128758026C>T	ENST00000259235.3	-	8	1079	c.950G>A	c.(949-951)aGg>aAg	p.R317K	SAP130_ENST00000357702.5_Missense_Mutation_p.R317K|SAP130_ENST00000259234.6_Missense_Mutation_p.R291K	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	317					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAAGGTTGGCCTACTGAAAAG	0.428																																					p.R317K		Atlas-SNP	.											.	SAP130	169	.	0			c.G950A						PASS	.						155	135	141					2																	128758026		2203	4300	6503	SO:0001583	missense	79595	exon8			GTTGGCCTACTGA	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.950G>A	2.37:g.128758026C>T	ENSP00000259235:p.Arg317Lys	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	86	20	0.232558	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543573	0.86022	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.979	T	0.57911	-0.7729	9	0.16896	T	0.51	-20.9485	19.5036	0.95105	0.0:1.0:0.0:0.0	.	317;317	B7ZLM3;Q9H0E3	.;SP130_HUMAN	K	317;317;291	.	ENSP00000259234:R291K	R	-	2	0	SAP130	128474496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.105000	0.77031	2.672000	0.90937	0.650000	0.86243	AGG	.	.	none		0.428	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		T	128758026	C	T	128758026	3	4	10	1	0	0	0	0	1	0	0	0	13831	681	24	2	2357	2	SAP130	2	128758026	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	14753584	128758026	114441347	53	1893										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021475	132021475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctgaaccccaaggccaaccGcgagaagatgacccagatca	9	15	1	5	rs11546936		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:132021475G>A	ENST00000356920.5	+	15	2541	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGGCCAACCGCGAGAAGATG	0.607																																					p.R816H		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+1,2	.	.	2	0			c.G2447A						scavenged	.						78	80	79					2																	132021475		2127	4190	6317	SO:0001583	missense	445582	exon15			CCAACCGCGAGAA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2447G>A	2.37:g.132021475G>A	ENSP00000439189:p.Arg816His	Somatic	214	12	0.0560748		WXS	Illumina HiSeq	Phase_I	262	23	0.0877863	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621132	0.66787	.	.	ENSG00000188219	ENST00000356920	D	0.97066	-4.23	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98817	0.9601	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96667	0.9493	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs11546936	816	Q6S8J3	POTEE_HUMAN	H	816	ENSP00000439189:R816H	ENSP00000439189:R816H	R	+	2	0	AC131180.1	131737945	1.000000	0.71417	0.216000	0.23742	0.219000	0.24729	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC	.	.	weak		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021475	G	A	132021475	3	1	10	1	0	0	0	0	1	0	0	0	12264	1087	38	1	2505	1	POTEE	2	132021475	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3263449	132021475	111177898	54	1894										
CXCR4	7852	hgsc.bcm.edu	37	chr2	136872552	136872552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctgctcacagaggtgagtgCgtgctgggcagaggttttaa	15	7	2	3	rs145335491		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:136872552C>T	ENST00000241393.3	-	2	1050	c.946G>A	c.(946-948)Gca>Aca	p.A316T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.A320T	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	316					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GAGGTGAGTGCGTGCTGGGCA	0.502																																					p.A320T		Atlas-SNP	.											CXCR4,NS,carcinoma,0,1	CXCR4	51	1	0			c.G958A						scavenged	.	C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	383	362	369		958,946	5.3	1	2	dbSNP_134	369	0,8600		0,0,4300	no	missense,missense	CXCR4	NM_001008540.1,NM_003467.2	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	320/357,316/353	136872552	2,13004	2203	4300	6503	SO:0001583	missense	7852	exon1			TGAGTGCGTGCTG	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.946G>A	2.37:g.136872552C>T	ENSP00000241393:p.Ala316Thr	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	229	4	0.0174672	NM_001008540	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827050	0.50739	4.54E-4	0.0	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.36699	1.24;1.24	6.16	5.26	0.73747	.	0.159423	0.56097	N	0.000031	T	0.41190	0.1148	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.986;1.0	B;D	0.68765	0.417;0.96	T	0.34502	-0.9826	10	0.32370	T	0.25	.	14.7183	0.69286	0.0:0.9286:0.0:0.0714	.	316;320	P61073;P61073-2	CXCR4_HUMAN;.	T	320;316;186	ENSP00000386884:A320T;ENSP00000241393:A316T	ENSP00000241393:A316T	A	-	1	0	CXCR4	136589022	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.555000	0.53727	1.557000	0.49525	0.650000	0.86243	GCA	C|1.000;T|0.000	0.000	weak		0.502	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			T	136872552	C	T	136872552	3	4	10	1	0	0	0	0	1	0	0	0	4093	768	27	1	116	1	CXCR4	2	136872552	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4851077	136872552	106326821	55	1895										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141259273	141259273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	taccttataactgaccggaaGgtcttgacagtcttgagaac	9	9	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:141259273G>A	ENST00000389484.3	-	55	9804	c.8833C>T	c.(8833-8835)Ctt>Ttt	p.L2945F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2945	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGACCGGAAGGTCTTGACAG	0.363										TSP Lung(27;0.18)																											p.L2945F	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.C8833T						PASS	.						112	115	114					2																	141259273		2203	4300	6503	SO:0001583	missense	53353	exon55			CCGGAAGGTCTTG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8833C>T	2.37:g.141259273G>A	ENSP00000374135:p.Leu2945Phe	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	63	31	0.492063	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881949	0.72294	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87887	-2.31	5.41	4.29	0.51040	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.086330	0.45361	U	0.000370	D	0.83179	0.5198	M	0.73372	2.23	0.43347	D	0.995408	B	0.30664	0.289	B	0.26517	0.07	T	0.77130	-0.2701	10	0.10902	T	0.67	.	11.8149	0.52204	0.1088:0.0:0.8912:0.0	.	2945	Q9NZR2	LRP1B_HUMAN	F	2945;2883	ENSP00000374135:L2945F	ENSP00000374135:L2945F	L	-	1	0	LRP1B	140975743	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	5.559000	0.67326	1.080000	0.41073	0.585000	0.79938	CTT	.	.	none		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141259273	G	A	141259273	3	1	10	1	0	0	0	0	1	0	0	0	8955	1000	35	2	5114	2	LRP1B	2	141259273	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4386721	141259273	101940100	56	1896										
RIF1	55183	hgsc.bcm.edu	37	chr2	152300225	152300225	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aactgaattgattaatcaggTatgaaataaatctgctacgt	7	5	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:152300225T>G	ENST00000243326.5	+	17	2469		c.e17+2		RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTAATCAGGTATGAAATAAA	0.313																																					.		Atlas-SNP	.											.	RIF1	244	.	0			c.1986+2T>G						PASS	.						63	67	65					2																	152300225		2202	4300	6502	SO:0001630	splice_region_variant	55183	exon18			ATCAGGTATGAAA	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1986+2T>G	2.37:g.152300225T>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	74	28	0.378378	NM_018151	A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762703	0.69763	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000414861;ENST00000430328	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5395	0.61666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152008471	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.811000	0.75221	2.027000	0.59764	0.377000	0.23210	.	.	.	none		0.313	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	G	152300225	T	G	152300225	5	3	10	1	0	0	0	0	0	0	1	0	13359	1652	57	5	2054	5	RIF1	2	152300225	Splice_Site	SNP	T	TCGA-FF-8041-01A-11D-2210-10	11040952	152300225	90899148	57	1897										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168107691	168107691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gacgctcaagaggaaatcagGaaagtggagaagagagctac	14	6	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:168107691G>T	ENST00000409195.1	+	9	9878	c.9789G>T	c.(9787-9789)agG>agT	p.R3263S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3263S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3041S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3088					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAATCAGGAAAGTGGAGA	0.423																																					p.R3263S		Atlas-SNP	.											.	XIRP2	914	.	0			c.G9789T						PASS	.						70	66	67					2																	168107691		1908	4138	6046	SO:0001583	missense	129446	exon9			AATCAGGAAAGTG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9789G>T	2.37:g.168107691G>T	ENSP00000386840:p.Arg3263Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	108	10	0.0925926	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.849012	0.17034	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02656	4.21;4.21;4.21	5.61	4.73	0.59995	.	0.251797	0.42053	D	0.000767	T	0.04003	0.0112	L	0.56769	1.78	0.34058	D	0.656942	P;P;P	0.46142	0.651;0.763;0.873	B;B;B	0.39660	0.084;0.173;0.306	T	0.40961	-0.9535	10	0.39692	T	0.17	-11.0608	8.8487	0.35186	0.17:0.0:0.83:0.0	.	3088;3088;3041	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	3263;3263;3041;677	ENSP00000386840:R3263S;ENSP00000295237:R3263S;ENSP00000387255:R3041S	ENSP00000295237:R3263S	R	+	3	2	XIRP2	167815937	0.962000	0.33011	0.852000	0.33557	0.171000	0.22731	1.442000	0.35046	1.504000	0.48704	0.460000	0.39030	AGG	.	.	none		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168107691	G	T	168107691	3	4	10	1	0	0	0	0	1	0	0	0	17427	1165	41	4	9819	4	XIRP2	2	168107691	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	15807466	168107691	75091682	58	1898										
TLK1	9874	hgsc.bcm.edu	37	chr2	171902832	171902832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggctagaagtttcctttgccTttcaatatcttccctttgct	6	11	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:171902832T>C	ENST00000431350.2	-	11	1425	c.1021A>G	c.(1021-1023)Agg>Ggg	p.R341G	TLK1_ENST00000442919.2_Missense_Mutation_p.R293G|TLK1_ENST00000521943.1_Missense_Mutation_p.R293G|TLK1_ENST00000434911.2_Missense_Mutation_p.R245G|TLK1_ENST00000360843.3_Missense_Mutation_p.R362G			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	341					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCTTTGCCTTTCAATATCT	0.373																																					p.R341G		Atlas-SNP	.											TLK1_ENST00000431350,NS,carcinoma,+1,2	TLK1	134	2	0			c.A1021G						scavenged	.						201	181	188					2																	171902832		2203	4300	6503	SO:0001583	missense	9874	exon11			TTTGCCTTTCAAT	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1021A>G	2.37:g.171902832T>C	ENSP00000411099:p.Arg341Gly	Somatic	273	1	0.003663		WXS	Illumina HiSeq	Phase_I	276	5	0.0181159	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999462	0.74818	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.66280	-0.17;-0.2;-0.16;-0.17;-0.13	5.33	1.4	0.22301	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.84585	2.705	0.58432	D	0.999995	P;P;D	0.89917	0.892;0.934;1.0	P;P;D	0.85130	0.647;0.852;0.997	T	0.80596	-0.1312	10	0.87932	D	0	-5.903	13.0736	0.59075	0.0:0.0:0.3931:0.6069	.	245;362;341	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	G	293;341;362;293;245	ENSP00000402165:R293G;ENSP00000411099:R341G;ENSP00000354089:R362G;ENSP00000428113:R293G;ENSP00000409222:R245G	ENSP00000354089:R362G	R	-	1	2	TLK1	171611078	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.172000	0.58243	0.055000	0.16094	0.482000	0.46254	AGG	.	.	none		0.373	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		C	171902832	T	C	171902832	3	2	10	1	0	0	0	0	1	0	0	0	15940	1608	56	3	1323	3	TLK1	2	171902832	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3795141	171902832	71296541	59	1899										
TTN	7273	hgsc.bcm.edu	37	chr2	179438134	179438134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagaatcaggatgtccccagCagacaaccatcgaatcttta	7	12	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:179438134C>A	ENST00000591111.1	-	276	68026	c.67802G>T	c.(67801-67803)tGc>tTc	p.C22601F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C15177F|TTN_ENST00000589042.1_Missense_Mutation_p.C24242F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C15302F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C21674F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C15369F			Q8WZ42	TITIN_HUMAN	titin	22601	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C15177F(1)|p.C21672F(1)|p.C15369F(1)|p.C15302F(1)		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)			ATGTCCCCAGCAGACAACCAT	0.448																																					p.C24242F		Atlas-SNP	.											TTN_ENST00000359218,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,4	TTN	18412	4	4	Substitution - Missense(4)	central_nervous_system(4)	c.G72725T						scavenged	.						77	76	76					2																	179438134		1922	4126	6048	SO:0001583	missense	7273	exon326			CCCCAGCAGACAA	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.67802G>T	2.37:g.179438134C>A	ENSP00000465570:p.Cys22601Phe	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	187	2	0.0106952	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	37		.	.	.	.	.	.	.	.	.	.	C	11.79	1.744868	0.30865	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.08	5.2	0.72013	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71459	0.3342	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.62184	0.899;0.899;0.899;0.857	T	0.76228	-0.3036	9	0.87932	D	0	.	17.6637	0.88198	0.0:0.8773:0.1227:0.0	.	15177;15302;15369;22601	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	21674;15177;15369;15302;15175	ENSP00000343764:C21674F;ENSP00000434586:C15177F;ENSP00000340554:C15369F;ENSP00000352154:C15302F	ENSP00000340554:C15369F	C	-	2	0	TTN	179146380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	1.561000	0.49584	0.655000	0.94253	TGC	.	.	none		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179438134	C	A	179438134	3	1	10	1	0	0	0	0	1	0	0	0	16732	710	25	4	35402	4	TTN	2	179438134	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7535302	179438134	63761239	60	1900										
NEUROD1	4760	hgsc.bcm.edu	37	chr2	182543437	182543437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcccccgttcctcagtgagtCctcctctgcgttcatggttt	8	15	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:182543437C>A	ENST00000295108.3	-	2	608	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	51					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D51Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCAGTGAGTCCTCCTCTGCG	0.562																																					p.D51Y		Atlas-SNP	.											NEUROD1,NS,carcinoma,0,1	NEUROD1	67	1	1	Substitution - Missense(1)	lung(1)	c.G151T						PASS	.						133	103	113					2																	182543437		2203	4300	6503	SO:0001583	missense	4760	exon2			GTGAGTCCTCCTC	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.151G>T	2.37:g.182543437C>A	ENSP00000295108:p.Asp51Tyr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	187	70	0.374332	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070590	0.76301	.	.	ENSG00000162992	ENST00000295108	D	0.95588	-3.75	5.9	5.9	0.94986	.	0.281498	0.32503	N	0.006008	D	0.91885	0.7431	L	0.40543	1.245	0.58432	D	0.999998	P	0.49090	0.919	B	0.34779	0.189	D	0.92806	0.6260	10	0.62326	D	0.03	-0.0043	17.7728	0.88497	0.0:1.0:0.0:0.0	.	51	Q13562	NDF1_HUMAN	Y	51	ENSP00000295108:D51Y	ENSP00000295108:D51Y	D	-	1	0	NEUROD1	182251682	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.332000	0.43903	2.788000	0.95919	0.650000	0.86243	GAC	.	.	none		0.562	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		A	182543437	C	A	182543437	3	1	10	1	0	0	0	0	1	0	0	0	10348	855	30	4	923	4	NEUROD1	2	182543437	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3105303	182543437	60655936	61	1901										
MFSD6	54842	hgsc.bcm.edu	37	chr2	191300956	191300956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtgttaagataaacaacgaTcttctaatttccaaggtctt	6	7	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:191300956T>C	ENST00000392328.1	+	3	525	c.201T>C	c.(199-201)gaT>gaC	p.D67D	MFSD6_ENST00000281416.7_Silent_p.D67D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	67					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TAAACAACGATCTTCTAATTT	0.393																																					p.D67D		Atlas-SNP	.											MFSD6,NS,carcinoma,+2,1	MFSD6	58	1	0			c.T201C						scavenged	.						94	99	98					2																	191300956		2203	4300	6503	SO:0001819	synonymous_variant	54842	exon3			CAACGATCTTCTA		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.201T>C	2.37:g.191300956T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	148	3	0.0202703	NM_017694	D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	CCDS2306.1																																																																																			.	.	none		0.393	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			C	191300956	T	C	191300956	2	2	10	1	0	0	0	0	0	0	0	1	9535	1432	50	2		2	MFSD6	2	191300956	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	8757519	191300956	51898417	62	1902										
HECW2	57520	hgsc.bcm.edu	37	chr2	197298113	197298113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctggggatttcgacgcctcAcaaaaagcaggtgctcccgg	12	12	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:197298113A>G	ENST00000260983.3	-	2	217	c.35T>C	c.(34-36)gTg>gCg	p.V12A		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	12					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCGACGCCTCACAAAAAGCAG	0.547																																					p.V12A		Atlas-SNP	.											.	HECW2	239	.	0			c.T35C						PASS	.						63	58	60					2																	197298113		2203	4300	6503	SO:0001583	missense	57520	exon2			CGCCTCACAAAAA	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.35T>C	2.37:g.197298113A>G	ENSP00000260983:p.Val12Ala	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	225	84	0.373333	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	7.043	0.563022	0.13498	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T	0.30714	1.52	5.27	5.27	0.74061	.	0.214433	0.39759	N	0.001275	T	0.26484	0.0647	L	0.51422	1.61	0.41396	D	0.987641	P	0.38767	0.646	B	0.35770	0.21	T	0.05435	-1.0885	10	0.13853	T	0.58	.	13.9092	0.63855	1.0:0.0:0.0:0.0	.	12	Q9P2P5	HECW2_HUMAN	A	12	ENSP00000260983:V12A	ENSP00000260983:V12A	V	-	2	0	HECW2	197006358	0.999000	0.42202	1.000000	0.80357	0.878000	0.50629	2.801000	0.47908	2.209000	0.71365	0.459000	0.35465	GTG	.	.	none		0.547	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		G	197298113	A	G	197298113	3	3	10	1	0	0	0	0	1	0	0	0	7043	159	6	2	4795	2	HECW2	2	197298113	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	5997157	197298113	45901260	63	1903										
INO80D	54891	hgsc.bcm.edu	37	chr2	206872127	206872127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctcattggcaatgtcatccGgcaactcatcagcactcagc	7	14	5	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:206872127G>A	ENST00000403263.1	-	10	2203	c.1799C>T	c.(1798-1800)cCg>cTg	p.P600L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	600					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AATGTCATCCGGCAACTCATC	0.493																																					p.P600L		Atlas-SNP	.											INO80D_ENST00000403263,NS,carcinoma,+1,2	INO80D	134	2	0			c.C1799T						scavenged	.						129	129	129					2																	206872127		2062	4217	6279	SO:0001583	missense	54891	exon10			TCATCCGGCAACT		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1799C>T	2.37:g.206872127G>A	ENSP00000384198:p.Pro600Leu	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	341	4	0.0117302	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548155	0.96488	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63157	-0.6700	10	0.72032	D	0.01	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	600	Q53TQ3-2	.	L	600	ENSP00000384198:P600L	ENSP00000233270:P600L	P	-	2	0	INO80D	206580372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.716000	0.92895	0.561000	0.74099	CCG	.	.	none		0.493	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		A	206872127	G	A	206872127	3	1	10	1	0	0	0	0	1	0	0	0	7749	1116	39	1	1292	1	INO80D	2	206872127	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	9574014	206872127	36327246	64	1904										
PTH2R	5746	hgsc.bcm.edu	37	chr2	209358138	209358138	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcacaggtggcggccagcacAcgcatggtgcttatctctgg	13	12	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:209358138A>C	ENST00000272847.2	+	13	1620	c.1407A>C	c.(1405-1407)acA>acC	p.T469T	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	469					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CGGCCAGCACACGCATGGTGC	0.592																																					p.T469T		Atlas-SNP	.											.	PTH2R	92	.	0			c.A1407C						PASS	.						44	36	39					2																	209358138		2203	4300	6503	SO:0001819	synonymous_variant	5746	exon13			CAGCACACGCATG	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1407A>C	2.37:g.209358138A>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	165	26	0.157576	NM_005048	Q8N429	Silent	SNP	ENST00000272847.2	37	CCDS2383.1																																																																																			.	.	none		0.592	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		C	209358138	A	C	209358138	2	2	10	1	0	0	0	0	0	0	0	1	12760	146	6	5		5	PTH2R	2	209358138	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	2486011	209358138	33841235	65	1905										
UGT1A6	54578	hgsc.bcm.edu	37	chr2	234601918	234601918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	accaagaagagctgaagaacCgttaccaatcatttggaaac	8	9	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:234601918C>A	ENST00000305139.6	+	1	407	c.268C>A	c.(268-270)Cgt>Agt	p.R90S	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	90					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GCTGAAGAACCGTTACCAATC	0.398																																					p.R90S		Atlas-SNP	.											UGT1A6,colon,carcinoma,-1,1	UGT1A6	63	1	0			c.C268A						scavenged	.						112	105	107					2																	234601918		2203	4300	6503	SO:0001583	missense	54578	exon1			AAGAACCGTTACC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.268C>A	2.37:g.234601918C>A	ENSP00000303174:p.Arg90Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_001072	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	8.635	0.894527	0.17613	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.06218	3.33;3.33	5.17	5.17	0.71159	.	.	.	.	.	T	0.06462	0.0166	N	0.25647	0.755	0.26024	N	0.981824	B;B	0.14438	0.01;0.003	B;B	0.23018	0.043;0.022	T	0.33420	-0.9869	9	0.18276	T	0.48	.	15.5189	0.75851	0.0:0.852:0.148:0.0	.	90;90	B8K289;P19224	.;UD16_HUMAN	S	90	ENSP00000389637:R90S;ENSP00000303174:R90S	ENSP00000303174:R90S	R	+	1	0	UGT1A6	234266657	0.000000	0.05858	0.028000	0.17463	0.333000	0.28666	-0.554000	0.06006	2.678000	0.91216	0.655000	0.94253	CGT	.	.	none		0.398	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		A	234601918	C	A	234601918	3	1	10	1	0	0	0	0	1	0	0	0	16946	652	23	4	270	4	UGT1A6	2	234601918	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	25243780	234601918	8597455	66	1906										
IQCA1	79781	hgsc.bcm.edu	37	chr2	237327861	237327861	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtttttcctttttcttcttCttctttttgtttttttcttc	2	8	5	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:237327861C>T	ENST00000409907.3	-	8	1339	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Silent_p.K351K|IQCA1_ENST00000431676.2_Intron	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	355	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ttttcttcttcttctttttgt	0.279																																					p.K362K		Atlas-SNP	.											IQCA1_ENST00000409907,NS,carcinoma,0,2	IQCA1	170	2	0			c.G1086A						scavenged	.						18	17	18					2																	237327861		1352	2959	4311	SO:0001819	synonymous_variant	79781	exon8			CTTCTTCTTCTTT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1065G>A	2.37:g.237327861C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	210	3	0.0142857	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.586357	0.00872	.	.	ENSG00000132321	ENST00000418802	.	.	.	2.87	-0.837	0.10766	.	.	.	.	.	T	0.41696	0.1170	.	.	.	0.39502	D	0.968216	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	2.334	0.04242	0.2747:0.3362:0.0:0.3891	.	.	.	.	K	374	.	.	E	-	1	0	IQCA1	236992600	0.001000	0.12720	0.343000	0.25615	0.040000	0.13550	-3.676000	0.00396	-0.184000	0.10567	-0.345000	0.07892	GAA	.	.	none		0.279	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		T	237327861	C	T	237327861	2	4	10	1	0	0	0	0	0	0	0	1	7802	912	32	2		2	IQCA1	2	237327861	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2725943	237327861	5871512	67	1907										
IQCA1	79781	hgsc.bcm.edu	37	chr2	237374287	237374287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctttatctgcacctcattccGcaggcggtccaccttttcag	7	15	3	0	rs35814876	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:237374287G>A	ENST00000409907.3	-	6	1061	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	IQCA1_ENST00000309507.5_Missense_Mutation_p.R259W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R263W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	263							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCTCATTCCGCAGGCGGTCC	0.448													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19395	0.0		0.002	False		,,,				2504	0.001				p.R270W		Atlas-SNP	.											IQCA1_ENST00000409907,NS,carcinoma,+1,4	IQCA1	170	4	0			c.C808T						scavenged	.	G	TRP/ARG	4,3850		0,4,1923	131	119	123		787	1.3	0	2	dbSNP_126	123	21,8257		0,21,4118	yes	missense	IQCA1	NM_024726.3	101	0,25,6041	AA,AG,GG		0.2537,0.1038,0.2061	probably-damaging	263/823	237374287	25,12107	1927	4139	6066	SO:0001583	missense	79781	exon6			CATTCCGCAGGCG	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.787C>T	2.37:g.237374287G>A	ENSP00000387347:p.Arg263Trp	Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	255	40	0.156863	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.918853|2.918853	0.52546|0.52546	0.001038|0.001038	0.002537|0.002537	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.96041	.|-3.86;-3.89;-3.89	5.37|5.37	1.31|1.31	0.21738|0.21738	.|.	.|0.120895	.|0.37393	.|N	.|0.002106	D|D	0.97770|0.97770	0.9268|0.9268	M|M	0.88906|0.88906	2.99|2.99	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.995;0.998	D|D	0.94404|0.94404	0.7625|0.7625	5|10	.|0.87932	.|D	.|0	.|.	15.7632|15.7632	0.78103|0.78103	0.0:0.0:0.3887:0.6113|0.0:0.0:0.3887:0.6113	rs35814876|rs35814876	.|263;270;263	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	V|W	281|263;270;259;263;259	.|ENSP00000387347:R263W;ENSP00000311951:R259W;ENSP00000407213:R263W	.|ENSP00000254653:R263W	A|R	-|-	2|1	0|2	IQCA1|IQCA1	237039026|237039026	0.017000|0.017000	0.18338|0.18338	0.022000|0.022000	0.16811|0.16811	0.026000|0.026000	0.11368|0.11368	0.527000|0.527000	0.22987|0.22987	-0.043000|-0.043000	0.13513|0.13513	0.563000|0.563000	0.77884|0.77884	GCG|CGG	G|0.986;A|0.014	0.014	weak		0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		A	237374287	G	A	237374287	3	1	10	1	0	0	0	0	1	0	0	0	7802	1086	38	1	1737	1	IQCA1	2	237374287	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	46426	237374287	5825086	68	1908										
D2HGDH	728294	hgsc.bcm.edu	37	chr2	242681924	242681924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggtgggtggcagcgtccccgTctttgacgagatcatcctct	13	12	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr2:242681924T>C	ENST00000321264.4	+	4	634	c.425T>C	c.(424-426)gTc>gCc	p.V142A	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V8A|D2HGDH_ENST00000342518.6_Missense_Mutation_p.V142A|D2HGDH_ENST00000537090.1_Missense_Mutation_p.V142A	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	142	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AGCGTCCCCGTCTTTGACGAG	0.647																																					p.V142A		Atlas-SNP	.											D2HGDH,NS,carcinoma,+1,1	D2HGDH	39	1	0			c.T425C						scavenged	.						103	79	87					2																	242681924		2203	4296	6499	SO:0001583	missense	728294	exon4			TCCCCGTCTTTGA	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.425T>C	2.37:g.242681924T>C	ENSP00000315351:p.Val142Ala	Somatic	309	1	0.00323625		WXS	Illumina HiSeq	Phase_I	395	6	0.0151899	NM_152783	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356896	0.82243	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.73	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	M	0.76170	2.325	0.80722	D	1	D	0.61080	0.989	D	0.68039	0.955	D	0.97882	1.0292	10	0.87932	D	0	.	14.8133	0.70010	0.0:0.0:0.0:1.0	.	142	Q8N465	D2HDH_HUMAN	A	142;142;8;142;26;12	ENSP00000442796:V142A;ENSP00000315351:V142A;ENSP00000384723:V8A;ENSP00000339536:V142A;ENSP00000412511:V26A;ENSP00000404596:V12A	ENSP00000315351:V142A	V	+	2	0	D2HGDH	242330597	1.000000	0.71417	0.971000	0.41717	0.635000	0.38103	7.367000	0.79558	1.913000	0.55393	0.454000	0.30748	GTC	.	.	none		0.647	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		C	242681924	T	C	242681924	3	2	10	1	0	0	0	0	1	0	0	0	4213	1667	58	2	435	2	D2HGDH	2	242681924	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5307637	242681924	517449	69	1909										
CHL1	10752	hgsc.bcm.edu	37	chr3	391167	391167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccaggacaaaggaaattatcGctgcacagccagcaatttct	8	11	1	0	rs201671256		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:391167G>A	ENST00000256509.2	+	10	1616	c.974G>A	c.(973-975)cGc>cAc	p.R325H	CHL1_ENST00000397491.2_Missense_Mutation_p.R309H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAAATTATCGCTGCACAGCC	0.398																																					p.R325H		Atlas-SNP	.											CHL1,caecum,carcinoma,-1,1	CHL1	242	1	0			c.G974A						scavenged	.						107	109	108					3																	391167		2203	4300	6503	SO:0001583	missense	10752	exon8			ATTATCGCTGCAC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.974G>A	3.37:g.391167G>A	ENSP00000256509:p.Arg325His	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	99	3	0.030303	NM_001253388	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556977	0.45590	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.30981	1.51;1.51	5.46	2.52	0.30459	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.353536	0.32952	N	0.005445	T	0.18130	0.0435	L	0.43757	1.38	0.33529	D	0.593424	B;B;B	0.26708	0.157;0.157;0.021	B;B;B	0.25614	0.062;0.062;0.013	T	0.09684	-1.0663	10	0.12766	T	0.61	.	2.624	0.04924	0.2815:0.0:0.4946:0.2239	.	309;309;325	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	H	325;309	ENSP00000256509:R325H;ENSP00000380628:R309H	ENSP00000256509:R325H	R	+	2	0	CHL1	366167	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.710000	0.37920	1.444000	0.47605	0.650000	0.86243	CGC	G|0.999;A|0.001	0.001	weak		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		A	391167	G	A	391167	3	1	10	1	0	0	0	0	1	0	0	0	3349	1087	38	1	1004	1	CHL1	3	391167	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10		391167	197631263	70	1910										
OXSR1	9943	hgsc.bcm.edu	37	chr3	38291481	38291481	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccaaaaaagaactaaatgaTattcgatttgaatttactcc	4	7	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:38291481T>C	ENST00000446845.1	+	15	1719	c.1347T>C	c.(1345-1347)gaT>gaC	p.D449D	OXSR1_ENST00000311806.3_Silent_p.D449D					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AACTAAATGATATTCGATTTG	0.303																																					p.D449D		Atlas-SNP	.											OXSR1_ENST00000311806,colon,carcinoma,+2,1	OXSR1	74	1	0			c.T1347C						scavenged	.						54	57	56					3																	38291481		2203	4298	6501	SO:0001819	synonymous_variant	9943	exon15			AAATGATATTCGA	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.1347T>C	3.37:g.38291481T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	166	2	0.0120482	NM_005109		Silent	SNP	ENST00000446845.1	37																																																																																				.	.	none		0.303	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		C	38291481	T	C	38291481	2	2	10	1	0	0	0	0	0	0	0	1	11336	1403	49	2		2	OXSR1	3	38291481	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	37900314	38291481	159730949	71	1911										
CCR8	1237	hgsc.bcm.edu	37	chr3	39374673	39374673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctgacttatgccacccatgTcacagaaatcatttccttta	5	12	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:39374673T>C	ENST00000326306.4	+	2	989	c.851T>C	c.(850-852)gTc>gCc	p.V284A	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.V201A	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	284					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCCACCCATGTCACAGAAATC	0.428																																					p.V284A		Atlas-SNP	.											CCR8,NS,carcinoma,+1,1	CCR8	34	1	0			c.T851C						scavenged	.						111	110	110					3																	39374673		2203	4300	6503	SO:0001583	missense	1237	exon2			CCCATGTCACAGA	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.851T>C	3.37:g.39374673T>C	ENSP00000326432:p.Val284Ala	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	220	3	0.0136364	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891728	0.72524	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.39406	1.08;1.08	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.421090	0.23380	N	0.048811	T	0.54967	0.1891	M	0.64567	1.98	0.41078	D	0.985502	P;P	0.42296	0.775;0.775	P;P	0.54431	0.689;0.752	T	0.54840	-0.8233	10	0.41790	T	0.15	.	13.2519	0.60055	0.0:0.0:0.0:1.0	.	284;201	P51685;Q3KNR3	CCR8_HUMAN;.	A	284;201	ENSP00000326432:V284A;ENSP00000440474:V201A	ENSP00000326432:V284A	V	+	2	0	CCR8	39349677	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	4.690000	0.61731	2.004000	0.58718	0.533000	0.62120	GTC	.	.	none		0.428	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		C	39374673	T	C	39374673	3	2	10	1	0	0	0	0	1	0	0	0	2947	1667	58	2	853	2	CCR8	3	39374673	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1083192	39374673	158647757	72	1912										
SEC22C	9117	hgsc.bcm.edu	37	chr3	42610481	42610481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtggtaaaaatcagtagaggCtgagaggggcagtccatccc	14	8	1	2	rs141431943		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:42610481C>G	ENST00000264454.3	-	2	201	c.58G>C	c.(58-60)Gcc>Ccc	p.A20P	SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Missense_Mutation_p.A20P|SEC22C_ENST00000273156.7_Missense_Mutation_p.A20P|SEC22C_ENST00000536332.1_5'UTR|SEC22C_ENST00000423701.2_Missense_Mutation_p.A20P			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	20	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCAGTAGAGGCTGAGAGGGGC	0.517																																					p.A20P		Atlas-SNP	.											.	SEC22C	27	.	0			c.G58C						PASS	.						74	72	72					3																	42610481		2203	4300	6503	SO:0001583	missense	9117	exon2			TAGAGGCTGAGAG	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.58G>C	3.37:g.42610481C>G	ENSP00000264454:p.Ala20Pro	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	168	30	0.178571	NM_001201584	O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	37	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146526	0.94603	.	.	ENSG00000093183	ENST00000423701;ENST00000273156;ENST00000417572;ENST00000264454;ENST00000456515;ENST00000450981;ENST00000416880;ENST00000420163	T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.41	5.41	0.78517	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.66670	-0.5865	10	0.87932	D	0	-10.4295	19.1881	0.93653	0.0:1.0:0.0:0.0	.	20;20;20	Q9BRL7-3;Q9BRL7;Q9BRL7-2	.;SC22C_HUMAN;.	P	20	ENSP00000414576:A20P;ENSP00000273156:A20P;ENSP00000407564:A20P;ENSP00000264454:A20P;ENSP00000391170:A20P;ENSP00000397170:A20P;ENSP00000391957:A20P;ENSP00000408242:A20P	ENSP00000264454:A20P	A	-	1	0	SEC22C	42585485	1.000000	0.71417	0.946000	0.38457	0.871000	0.50021	7.246000	0.78247	2.522000	0.85027	0.655000	0.94253	GCC	C|1.000;T|0.000	.	alt		0.517	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		G	42610481	C	G	42610481	3	3	10	1	0	0	0	0	1	0	0	0	13990	797	28	4	923	4	SEC22C	3	42610481	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3235808	42610481	155411949	73	1913										
C3orf39	84892	hgsc.bcm.edu	37	chr3	43122493	43122493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctggcacgaacaccggcttgGgcatgaagcgcagggcagca	15	12	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:43122493G>T	ENST00000344697.2	-	2	776	c.431C>A	c.(430-432)cCc>cAc	p.P144H	POMGNT2_ENST00000441964.1_Missense_Mutation_p.P144H	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	144					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CACCGGCTTGGGCATGAAGCG	0.602																																					p.P144H		Atlas-SNP	.											C3orf39,NS,adenocarcinoma,0,2	.	.	2	0			c.C431A						scavenged	.						107	100	103					3																	43122493		2203	4300	6503	SO:0001583	missense	84892	exon2			GGCTTGGGCATGA	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.431C>A	3.37:g.43122493G>T	ENSP00000344125:p.Pro144His	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	128	3	0.0234375	NM_032806	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523538	0.64747	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.76839	-1.05;-1.05	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83919	0.0300	10	0.41790	T	0.15	-11.0049	19.2304	0.93836	0.0:0.0:1.0:0.0	.	144	Q8NAT1	AGO61_HUMAN	H	144	ENSP00000408992:P144H;ENSP00000344125:P144H	ENSP00000344125:P144H	P	-	2	0	C3orf39	43097497	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	CCC	.	.	none		0.602	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		T	43122493	G	T	43122493	3	4	10	1	0	0	0	0	1	0	0	0	2229	1232	43	4	1315	4	C3orf39	3	43122493	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	512012	43122493	154899937	74	1914										
ZNF502	91392	hgsc.bcm.edu	37	chr3	44762425	44762425	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgtaaaattgactcatcagGgatagtagtaaagaggttcc	10	6	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:44762425G>C	ENST00000296091.4	+	4	372	c.116G>C	c.(115-117)gGg>gCg	p.G39A	ZNF502_ENST00000436624.2_Missense_Mutation_p.G39A|ZNF502_ENST00000449836.1_Missense_Mutation_p.G39A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	39					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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GACTCATCAGGGATAGTAGTA	0.418																																					p.G39A		Atlas-SNP	.											.	ZNF502	58	.	0			c.G116C						PASS	.						73	75	74					3																	44762425		2203	4300	6503	SO:0001583	missense	91392	exon4			CATCAGGGATAGT	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.116G>C	3.37:g.44762425G>C	ENSP00000296091:p.Gly39Ala	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	96	21	0.21875	NM_001134440		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398645	0.25205	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.54675	3.42;3.42;3.42;0.56	4.92	0.917	0.19380	.	.	.	.	.	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.28073	-1.0055	9	0.05620	T	0.96	-3.7166	3.6154	0.08075	0.4034:0.1908:0.4058:0.0	.	39	Q8TBZ5	ZN502_HUMAN	A	39	ENSP00000397390:G39A;ENSP00000296091:G39A;ENSP00000406469:G39A;ENSP00000401717:G39A	ENSP00000296091:G39A	G	+	2	0	ZNF502	44737429	0.002000	0.14202	0.053000	0.19242	0.051000	0.14879	0.321000	0.19558	0.668000	0.31126	0.655000	0.94253	GGG	.	.	none		0.418	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		C	44762425	G	C	44762425	3	2	10	1	0	0	0	0	1	0	0	0	17947	1232	43	4	122	4	ZNF502	3	44762425	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1639932	44762425	153260005	75	1915										
TGM4	7047	hgsc.bcm.edu	37	chr3	44943132	44943132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcctgcagcagtactacaaCacgaagcaggctgtgtgctt	10	11	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:44943132C>T	ENST00000296125.4	+	7	842	c.774C>T	c.(772-774)aaC>aaT	p.N258N	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597																																					p.N258N		Atlas-SNP	.											TGM4,caecum,carcinoma,0,1	TGM4	82	1	0			c.C774T						scavenged	.						125	116	119					3																	44943132		2203	4300	6503	SO:0001819	synonymous_variant	7047	exon7			CTACAACACGAAG	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.774C>T	3.37:g.44943132C>T		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	229	5	0.0218341	NM_003241	Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	CCDS2723.1																																																																																			.	.	none		0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		T	44943132	C	T	44943132	2	4	10	1	0	0	0	0	0	0	0	1	15829	477	17	2		2	TGM4	3	44943132	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	180707	44943132	153079298	76	1916										
COL7A1	1294	hgsc.bcm.edu	37	chr3	48613080	48613080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccttgcctggggggccctgTtcgcctgagtcccccttggg	14	15	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:48613080T>C	ENST00000328333.8	-	72	6065	c.5958A>G	c.(5956-5958)gaA>gaG	p.E1986E	COL7A1_ENST00000454817.1_Silent_p.E1954E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1986	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGGCCCTGTTCGCCTGAGT	0.637																																					p.E1986E		Atlas-SNP	.											COL7A1,rectum,carcinoma,-2,1	COL7A1	320	1	0			c.A5958G						scavenged	.						55	58	57					3																	48613080		2203	4300	6503	SO:0001819	synonymous_variant	1294	exon72			GCCCTGTTCGCCT	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5958A>G	3.37:g.48613080T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	117	3	0.025641	NM_000094	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																			.	.	none		0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		C	48613080	T	C	48613080	2	2	10	1	0	0	0	0	0	0	0	1	3704	1722	60	2		2	COL7A1	3	48613080	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3669948	48613080	149409350	77	1917										
CAMKV	79012	hgsc.bcm.edu	37	chr3	49897116	49897116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggtggcactacggtctgcggGggccacattatcactctttg	13	11	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:49897116G>A	ENST00000477224.1	-	11	1619	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000296471.7_Missense_Mutation_p.P353S|CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000467248.1_Missense_Mutation_p.P306S			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	381	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGTCTGCGGGGGCCACATTA	0.647																																					p.P381S		Atlas-SNP	.											CAMKV_ENST00000477224,colon,carcinoma,+2,1	CAMKV	84	1	0			c.C1141T						scavenged	.						75	76	76					3																	49897116		2203	4300	6503	SO:0001583	missense	79012	exon11			CTGCGGGGGCCAC	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1141C>T	3.37:g.49897116G>A	ENSP00000419195:p.Pro381Ser	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	126	2	0.015873	NM_024046	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292246	0.10567	.	.	ENSG00000164076	ENST00000296471;ENST00000477224;ENST00000467248	T;T;T	0.69685	0.58;-0.22;-0.42	5.64	-0.471	0.12119	.	0.597721	0.13999	N	0.348290	T	0.42040	0.1185	N	0.14661	0.345	0.09310	N	0.999994	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	0.19549	-1.0302	10	0.31617	T	0.26	.	5.7413	0.18096	0.2866:0.2905:0.4228:0.0	.	381;306;353;381	B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2	.;.;.;CAMKV_HUMAN	S	353;381;306	ENSP00000296471:P353S;ENSP00000419195:P381S;ENSP00000420053:P306S	ENSP00000296471:P353S	P	-	1	0	CAMKV	49872120	0.010000	0.17322	0.120000	0.21714	0.916000	0.54674	0.046000	0.14035	0.233000	0.21120	-0.302000	0.09304	CCC	.	.	none		0.647	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		A	49897116	G	A	49897116	3	1	10	1	0	0	0	0	1	0	0	0	2608	1232	43	2	368	2	CAMKV	3	49897116	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1284036	49897116	148125314	78	1918										
HYAL3	8372	hgsc.bcm.edu	37	chr3	50332345	50332345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cggcccagagccaatgcagtTgagtgttgcgggcaagggtg	17	9	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:50332345T>G	ENST00000336307.1	-	2	961	c.689A>C	c.(688-690)cAa>cCa	p.Q230P	IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000484043.1_5'Flank|HYAL3_ENST00000450982.1_Missense_Mutation_p.Q230P|HYAL3_ENST00000359051.3_Missense_Mutation_p.Q230P|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	230					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAATGCAGTTGAGTGTTGCG	0.622																																					p.Q230P		Atlas-SNP	.											.	HYAL3	34	.	0			c.A689C						PASS	.						64	64	64					3																	50332345		2203	4300	6503	SO:0001583	missense	8372	exon2			TGCAGTTGAGTGT	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.689A>C	3.37:g.50332345T>G	ENSP00000337425:p.Gln230Pro	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	211	88	0.417062	NM_001200030	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196026	0.58126	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982	T;T;T	0.24908	1.83;1.83;1.83	5.26	1.71	0.24356	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.428784	0.22758	U	0.055998	T	0.42675	0.1213	M	0.88979	2.995	0.27105	N	0.962515	P;D	0.53151	0.939;0.958	P;P	0.52386	0.697;0.571	T	0.35992	-0.9766	10	0.72032	D	0.01	-2.7947	7.8275	0.29324	0.0:0.2392:0.0:0.7608	.	230;230	O43820;O43820-2	HYAL3_HUMAN;.	P	230	ENSP00000351946:Q230P;ENSP00000337425:Q230P;ENSP00000391922:Q230P	ENSP00000337425:Q230P	Q	-	2	0	HYAL3	50307349	0.000000	0.05858	0.992000	0.48379	0.932000	0.56968	-0.339000	0.07832	0.850000	0.35239	0.460000	0.39030	CAA	.	.	none		0.622	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		G	50332345	T	G	50332345	3	3	10	1	0	0	0	0	1	0	0	0	7465	1812	63	5	576	5	HYAL3	3	50332345	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	435229	50332345	147690085	79	1919										
DCP1A	55802	hgsc.bcm.edu	37	chr3	53353455	53353455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagccatgagttttgctatgCggtgacagtcattcttgtca	10	9	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:53353455C>T	ENST00000607628.1	-	4	459	c.350G>A	c.(349-351)cGc>cAc	p.R117H	DCP1A_ENST00000606822.1_Missense_Mutation_p.R117H|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.R117H	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	117					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)		TTTTGCTATGCGGTGACAGTC	0.333																																					p.R117H		Atlas-SNP	.											DCP1A,colon,carcinoma,-1,2	DCP1A	30	2	0			c.G350A						scavenged	.						66	58	60					3																	53353455		1818	4072	5890	SO:0001583	missense	55802	exon4			GCTATGCGGTGAC	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.350G>A	3.37:g.53353455C>T	ENSP00000475920:p.Arg117His	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_018403	B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37																																																																																				.	.	none		0.333	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		T	53353455	C	T	53353455	3	4	10	1	0	0	0	0	1	0	0	0	4298	768	27	1	1426	1	DCP1A	3	53353455	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3021110	53353455	144668975	80	1920										
HTR1F	3355	hgsc.bcm.edu	37	chr3	88040116	88040116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagtcacagattttcttgtgGctgtcctggtgatgcccttc	10	11	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:88040116G>A	ENST00000319595.4	+	1	271	c.217G>A	c.(217-219)Gct>Act	p.A73T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	73					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTTTCTTGTGGCTGTCCTGGT	0.458																																					p.A73T		Atlas-SNP	.											HTR1F,NS,carcinoma,-1,1	HTR1F	66	1	0			c.G217A						scavenged	.						109	102	105					3																	88040116		2203	4300	6503	SO:0001583	missense	3355	exon2			CTTGTGGCTGTCC	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.217G>A	3.37:g.88040116G>A	ENSP00000322924:p.Ala73Thr	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	205	3	0.0146341	NM_000866		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551349	0.86127	.	.	ENSG00000179097	ENST00000319595	T	0.36699	1.24	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.89414	3.03	0.58432	D	0.999997	D	0.76494	0.999	D	0.73708	0.981	T	0.70332	-0.4901	10	0.46703	T	0.11	.	16.4743	0.84128	0.0:0.0:1.0:0.0	.	73	P30939	5HT1F_HUMAN	T	73	ENSP00000322924:A73T	ENSP00000322924:A73T	A	+	1	0	HTR1F	88122806	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.823000	0.99369	2.495000	0.84180	0.585000	0.79938	GCT	.	.	none		0.458	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		A	88040116	G	A	88040116	3	1	10	1	0	0	0	0	1	0	0	0	7440	1203	42	2	219	2	HTR1F	3	88040116	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	34686661	88040116	109982314	81	1921										
HTR1F	3355	hgsc.bcm.edu	37	chr3	88040470	88040470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actcaacatttggagctttcTacatcccactggcattgatt	6	11	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:88040470T>C	ENST00000319595.4	+	1	625	c.571T>C	c.(571-573)Tac>Cac	p.Y191H		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	191					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGGAGCTTTCTACATCCCACT	0.408																																					p.Y191H		Atlas-SNP	.											HTR1F,right_upper_lobe,carcinoma,-2,1	HTR1F	66	1	0			c.T571C						scavenged	.						77	82	80					3																	88040470		2203	4300	6503	SO:0001583	missense	3355	exon2			GCTTTCTACATCC	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.571T>C	3.37:g.88040470T>C	ENSP00000322924:p.Tyr191His	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	188	2	0.0106383	NM_000866		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573696	0.65765	.	.	ENSG00000179097	ENST00000319595	T	0.74421	-0.84	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	H	0.97707	4.06	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.93226	0.6613	10	0.87932	D	0	.	12.7021	0.57038	0.0:0.0:0.0:1.0	.	191	P30939	5HT1F_HUMAN	H	191	ENSP00000322924:Y191H	ENSP00000322924:Y191H	Y	+	1	0	HTR1F	88123160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	1.897000	0.54924	0.377000	0.23210	TAC	.	.	none		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		C	88040470	T	C	88040470	3	2	10	1	0	0	0	0	1	0	0	0	7440	1522	53	3	573	3	HTR1F	3	88040470	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	354	88040470	109981960	82	1922										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89391088	89391088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaatgtccgcttcctccctcGacagtttggactcaccaaca	6	15	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:89391088G>A	ENST00000336596.2	+	5	1379	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.R385Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.R385Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCCTCCCTCGACAGTTTGGA	0.478										TSP Lung(6;0.00050)																											p.R385Q		Atlas-SNP	.											EPHA3_ENST00000452448,colon,carcinoma,+1,2	EPHA3	501	2	0			c.G1154A						scavenged	.						106	93	98					3																	89391088		2203	4300	6503	SO:0001583	missense	2042	exon5			TCCCTCGACAGTT	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1154G>A	3.37:g.89391088G>A	ENSP00000337451:p.Arg385Gln	Somatic	145	3	0.0206897		WXS	Illumina HiSeq	Phase_I	154	2	0.012987	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793051	0.31685	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59224	0.28;0.28;0.28	5.66	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	L	0.45698	1.435	0.80722	D	1	D;P	0.76494	0.999;0.764	D;B	0.80764	0.994;0.095	T	0.67933	-0.5542	9	.	.	.	.	14.9169	0.70805	0.0687:0.0:0.9313:0.0	.	385;385	P29320;P29320-2	EPHA3_HUMAN;.	Q	385	ENSP00000337451:R385Q;ENSP00000399926:R385Q;ENSP00000419190:R385Q	.	R	+	2	0	EPHA3	89473778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	1.538000	0.49270	0.655000	0.94253	CGA	.	.	none		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89391088	G	A	89391088	3	1	10	1	0	0	0	0	1	0	0	0	5168	1058	37	1	1172	1	EPHA3	3	89391088	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1350618	89391088	108631342	83	1923										
CD200	4345	hgsc.bcm.edu	37	chr3	112059764	112059764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttcaggtgatcaggatgcccTtctctcatctgtctacctac	7	13	6	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:112059764T>G	ENST00000315711.8	+	2	85	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V	CD200_ENST00000473539.1_Missense_Mutation_p.F35V|CD200_ENST00000383681.3_Intron	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	10					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CAGGATGCCCTTCTCTCATCT	0.483																																					p.F35V		Atlas-SNP	.											.	CD200	33	.	0			c.T103G						PASS	.						153	126	135					3																	112059764		2203	4300	6503	SO:0001583	missense	4345	exon3			ATGCCCTTCTCTC		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.28T>G	3.37:g.112059764T>G	ENSP00000312766:p.Phe10Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	94	24	0.255319	NM_001004196	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685253	0.29872	.	.	ENSG00000091972	ENST00000315711;ENST00000473539	T;T	0.72505	1.05;-0.66	5.18	4.01	0.46588	.	0.230049	0.31102	N	0.008250	T	0.54351	0.1853	N	0.24115	0.695	0.47183	D	0.999341	B;B	0.23249	0.082;0.01	B;B	0.19946	0.027;0.011	T	0.51076	-0.8751	10	0.49607	T	0.09	-6.9091	9.0178	0.36182	0.0:0.0:0.1864:0.8136	.	10;35	P41217-2;P41217-3	.;.	V	10;35	ENSP00000312766:F10V;ENSP00000420298:F35V	ENSP00000312766:F10V	F	+	1	0	CD200	113542454	0.584000	0.26766	0.303000	0.25071	0.960000	0.62799	0.805000	0.27112	0.971000	0.38288	0.533000	0.62120	TTC	.	.	none		0.483	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			G	112059764	T	G	112059764	3	3	10	1	0	0	0	0	1	0	0	0	2980	1609	56	5	113	5	CD200	3	112059764	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	22668676	112059764	85962666	84	1924										
ATG3	64422	hgsc.bcm.edu	37	chr3	112255439	112255439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acatgtgctcaactgttaaaGgctgccgttgctgaaagcat	10	9	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:112255439G>A	ENST00000283290.5	-	10	1111	c.677C>T	c.(676-678)cCt>cTt	p.P226L	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.P226L	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	226					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AACTGTTAAAGGCTGCCGTTG	0.463																																					p.P226L		Atlas-SNP	.											ATG3,NS,carcinoma,+1,1	ATG3	23	1	0			c.C677T						scavenged	.						185	158	167					3																	112255439		2203	4300	6503	SO:0001583	missense	64422	exon10			GTTAAAGGCTGCC		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.677C>T	3.37:g.112255439G>A	ENSP00000283290:p.Pro226Leu	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	170	2	0.0117647	NM_022488	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.648701	0.87958	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.57	5.57	0.84162	Autophagy-related protein 3 (1);	0.102146	0.64402	D	0.000002	T	0.68796	0.3040	L	0.51422	1.61	0.80722	D	1	B;P	0.46064	0.245;0.872	B;P	0.50934	0.439;0.654	T	0.66701	-0.5857	9	0.40728	T	0.16	-4.6845	19.5516	0.95323	0.0:0.0:1.0:0.0	.	226;226	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	L	226	.	ENSP00000283290:P226L	P	-	2	0	ATG3	113738129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.309000	0.96252	2.623000	0.88846	0.563000	0.77884	CCT	.	.	none		0.463	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		A	112255439	G	A	112255439	3	1	10	1	0	0	0	0	1	0	0	0	1095	1000	35	2	279	2	ATG3	3	112255439	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	195675	112255439	85766991	85	1925										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119466110	119466110	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcttatgaaatggaaagccGgtgtgtatcaagagaacaga	12	5	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:119466110G>A	ENST00000273390.5	+	15	2128	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	520						mitochondrion (GO:0005739)											ATGGAAAGCCGGTGTGTATCA	0.388																																					p.R684H		Atlas-SNP	.											C3orf15,NS,carcinoma,+1,2	.	.	2	0			c.G2051A						scavenged	.						76	68	71					3																	119466110		2203	4300	6503	SO:0001630	splice_region_variant	89876	exon15			AAAGCCGGTGTGT	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2051+1G>A	3.37:g.119466110G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	56	3	0.0535714	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389491	0.82902	.	.	ENSG00000183833	ENST00000273390	T	0.24350	1.86	5.68	4.8	0.61643	.	0.241129	0.40222	N	0.001147	T	0.50171	0.1600	M	0.77103	2.36	0.80722	D	1	B;D;P	0.76494	0.391;0.999;0.647	B;D;B	0.65874	0.067;0.939;0.111	T	0.54589	-0.8271	10	0.54805	T	0.06	-13.3469	14.3754	0.66869	0.0707:0.0:0.9293:0.0	.	520;622;684	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	684	ENSP00000273390:R684H	ENSP00000273390:R684H	R	+	2	0	C3orf15	120948800	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	4.272000	0.58908	1.403000	0.46800	0.591000	0.81541	CGC	.	.	none		0.388	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	Missense_Mutation	A	119466110	G	A	119466110	5	1	10	1	0	0	0	0	0	0	1	0	2209	1130	39	1	2109	1	C3orf15	3	119466110	Splice_Site	SNP	G	TCGA-FF-8041-01A-11D-2210-10	7210671	119466110	78556320	86	1926										
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122632728	122632728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcctcccggctcttgcccacGcagatgcggcccccgtggcg	12	19	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:122632728G>A	ENST00000357599.3	-	15	2495	c.2109C>T	c.(2107-2109)tgC>tgT	p.C703C	SEMA5B_ENST00000451055.2_Silent_p.C757C|SEMA5B_ENST00000195173.4_Silent_p.C703C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	703	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.			C -> F (in Ref. 2; AAQ88491). {ECO:0000305}.	cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCCCACGCAGATGCGGC	0.657																																					p.C757C		Atlas-SNP	.											.	SEMA5B	303	.	0			c.C2271T						PASS	.						49	53	51					3																	122632728		2203	4299	6502	SO:0001819	synonymous_variant	54437	exon15			GCCCACGCAGATG	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2109C>T	3.37:g.122632728G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_001256347	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																			.	.	none		0.657	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		A	122632728	G	A	122632728	2	1	10	1	0	0	0	0	0	0	0	1	14038	1079	38	1		1	SEMA5B	3	122632728	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3166618	122632728	75389702	87	1927										
IFT122	55764	hgsc.bcm.edu	37	chr3	129185836	129185836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccactctgaagtcagcagtgTacagtagtcagggtagtgag	13	8	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:129185836T>C	ENST00000348417.2	+	8	744	c.667T>C	c.(667-669)Tac>Cac	p.Y223H	IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Missense_Mutation_p.Y274H|IFT122_ENST00000431818.2_Missense_Mutation_p.Y73H|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	223					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTCAGCAGTGTACAGTAGTCA	0.502																																					p.Y274H		Atlas-SNP	.											IFT122,caecum,carcinoma,-2,1	IFT122	117	1	0			c.T820C						scavenged	.						152	153	152					3																	129185836		2203	4300	6503	SO:0001583	missense	55764	exon9			GCAGTGTACAGTA	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.667T>C	3.37:g.129185836T>C	ENSP00000324005:p.Tyr223His	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	2	0.0240964	NM_052985	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720777	0.48728	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	T;T;T	0.60797	0.16;0.35;0.76	4.74	4.74	0.60224	WD40 repeat-like-containing domain (1);	0.514389	0.17407	N	0.175313	T	0.50922	0.1644	N	0.14661	0.345	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.51355	0.347;0.667	T	0.54846	-0.8232	10	0.56958	D	0.05	-10.7144	11.8651	0.52488	0.0:0.0:0.0:1.0	.	223;274	Q9HBG6;G3XAB1	IF122_HUMAN;.	H	274;73;223	ENSP00000296266:Y274H;ENSP00000410946:Y73H;ENSP00000324005:Y223H	ENSP00000296266:Y274H	Y	+	1	0	IFT122	130668526	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.667000	0.46808	1.999000	0.58509	0.379000	0.24179	TAC	.	.	none		0.502	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		C	129185836	T	C	129185836	3	2	10	1	0	0	0	0	1	0	0	0	7555	1638	57	2	854	2	IFT122	3	129185836	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	6553108	129185836	68836594	88	1928										
DNAJC13	23317	hgsc.bcm.edu	37	chr3	132245067	132245067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgagcagatactgttggtcTagcctgtgaagcaattaatc	11	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:132245067T>C	ENST00000260818.6	+	53	6571	c.6323T>C	c.(6322-6324)cTa>cCa	p.L2108P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2108					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACTGTTGGTCTAGCCTGTGAA	0.413																																					p.L2108P		Atlas-SNP	.											.	DNAJC13	253	.	0			c.T6323C						PASS	.						118	112	114					3																	132245067		2203	4300	6503	SO:0001583	missense	23317	exon53			TTGGTCTAGCCTG	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6323T>C	3.37:g.132245067T>C	ENSP00000260818:p.Leu2108Pro	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	94	5	0.0531915	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886801	0.51908	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.50548	0.74	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.233516	0.36482	N	0.002575	T	0.49847	0.1581	M	0.76838	2.35	0.80722	D	1	P	0.39131	0.661	B	0.33521	0.165	T	0.57487	-0.7803	10	0.52906	T	0.07	.	16.0439	0.80704	0.0:0.0:0.0:1.0	.	2108	O75165	DJC13_HUMAN	P	2108;755	ENSP00000260818:L2108P	ENSP00000260818:L2108P	L	+	2	0	DNAJC13	133727757	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	7.864000	0.87037	2.250000	0.74265	0.482000	0.46254	CTA	.	.	none		0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		C	132245067	T	C	132245067	3	2	10	1	0	0	0	0	1	0	0	0	4632	1522	53	3	6529	3	DNAJC13	3	132245067	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3059231	132245067	65777363	89	1929										
SI	6476	hgsc.bcm.edu	37	chr3	164783107	164783107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttttccaggataaatcatgaCgaaatctcttatgaacttgt	6	7	2	2	rs530009542	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:164783107C>T	ENST00000264382.3	-	7	811	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	250	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R250H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAAATCATGACGAAATCTCTT	0.338										HNSCC(35;0.089)			C|||	2	0.000399361	0.0	0.0	5008	,	,		9411	0.0		0.0	False		,,,				2504	0.002				p.R250H		Atlas-SNP	.											SI,colon,carcinoma,-1,3	SI	500	3	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G749A						scavenged	.						76	75	75					3																	164783107		2203	4300	6503	SO:0001583	missense	6476	exon7			TCATGACGAAATC	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.749G>A	3.37:g.164783107C>T	ENSP00000264382:p.Arg250His	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	162	2	0.0123457	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361611	0.82353	.	.	ENSG00000090402	ENST00000264382	D	0.90732	-2.72	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.105792	0.64402	D	0.000003	D	0.95118	0.8418	H	0.95470	3.675	0.48762	D	0.999702	D	0.71674	0.998	P	0.51833	0.681	D	0.95739	0.8781	10	0.66056	D	0.02	.	13.4661	0.61254	0.0:0.9291:0.0:0.0709	.	250	P14410	SUIS_HUMAN	H	250	ENSP00000264382:R250H	ENSP00000264382:R250H	R	-	2	0	SI	166265801	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.549000	0.53681	2.788000	0.95919	0.650000	0.86243	CGT	.	.	none		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164783107	C	T	164783107	3	4	10	1	0	0	0	0	1	0	0	0	14297	536	19	1	4902	1	SI	3	164783107	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	32538040	164783107	33239323	90	1930										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167039925	167039925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcctgtgttttttaagccaTaatttttccatataggatag	6	7	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:167039925T>C	ENST00000392766.2	-	12	1303	c.963A>G	c.(961-963)ttA>ttG	p.L321L	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Silent_p.L292L|ZBBX_ENST00000455345.2_Silent_p.L321L|ZBBX_ENST00000307529.5_Silent_p.L321L|ZBBX_ENST00000392767.2_Silent_p.L321L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	321						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTTTAAGCCATAATTTTTCCA	0.294																																					p.L321L		Atlas-SNP	.											ZBBX_ENST00000455345,caecum,carcinoma,-2,2	ZBBX	299	2	0			c.A963G						scavenged	.						60	57	58					3																	167039925		1784	4035	5819	SO:0001819	synonymous_variant	79740	exon12			AAGCCATAATTTT	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.963A>G	3.37:g.167039925T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	172	4	0.0232558	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																			.	.	none		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167039925	T	C	167039925	2	2	10	1	0	0	0	0	0	0	0	1	17513	1403	49	2		2	ZBBX	3	167039925	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	2256818	167039925	30982505	91	1931										
MAP3K13	9175	hgsc.bcm.edu	37	chr3	185190894	185190894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagcaaaccacgccaccgccGagggaatagcagaggcagcc	12	14	0	1	rs555365583		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:185190894G>A	ENST00000265026.3	+	11	2109	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R385Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R592Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R448Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R448Q	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)			CGCCACCGCCGAGGGAATAGC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17515	0.0		0.001	False		,,,				2504	0.0				p.R592Q		Atlas-SNP	.											MAP3K13_ENST00000424227,colon,carcinoma,+1,4	MAP3K13	209	4	0			c.G1775A						scavenged	.						220	243	235					3																	185190894		2203	4300	6503	SO:0001583	missense	9175	exon11			ACCGCCGAGGGAA	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.1775G>A	3.37:g.185190894G>A	ENSP00000265026:p.Arg592Gln	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	162	3	0.0185185	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392422	0.96009	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.47	5.47	0.80525	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.50717	-0.8795	10	0.52906	T	0.07	.	19.3275	0.94268	0.0:0.0:1.0:0.0	.	448;385;592	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	385;592;448;448;592	ENSP00000411483:R385Q;ENSP00000399910:R592Q;ENSP00000409325:R448Q;ENSP00000439257:R448Q;ENSP00000265026:R592Q	ENSP00000265026:R592Q	R	+	2	0	MAP3K13	186673588	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	9.559000	0.98135	2.552000	0.86080	0.561000	0.74099	CGA	.	.	none		0.537	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		A	185190894	G	A	185190894	3	1	10	1	0	0	0	0	1	0	0	0	9247	1058	37	1	1813	1	MAP3K13	3	185190894	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	18150969	185190894	12831536	92	1932										
LRRC15	131578	hgsc.bcm.edu	37	chr3	194080325	194080325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	accatggtgtttctgggtaaCtaggcacctcggggacatgg	14	9	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:194080325C>G	ENST00000347624.3	-	2	1533	c.1448G>C	c.(1447-1449)aGt>aCt	p.S483T	LRRC15_ENST00000428839.1_Missense_Mutation_p.S489T|LRRC15_ENST00000439944.2_Missense_Mutation_p.S489T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	483					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCTGGGTAACTAGGCACCTC	0.532																																					p.S489T		Atlas-SNP	.											.	LRRC15	137	.	0			c.G1466C						PASS	.						162	151	155					3																	194080325		2203	4300	6503	SO:0001583	missense	131578	exon3			GGGTAACTAGGCA	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1448G>C	3.37:g.194080325C>G	ENSP00000306276:p.Ser483Thr	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	242	55	0.227273	NM_001135057	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	0.557	-0.846990	0.02651	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56941	0.43;0.45;0.45	5.24	-0.0103	0.13997	.	1.652070	0.03016	N	0.150004	T	0.37544	0.1007	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.17592	-1.0364	10	0.13470	T	0.59	.	10.0974	0.42484	0.253:0.3793:0.3677:0.0	.	483;489	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	483;489;489	ENSP00000306276:S483T;ENSP00000389128:S489T;ENSP00000413707:S489T	ENSP00000306276:S483T	S	-	2	0	LRRC15	195561620	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.283000	0.08433	-0.217000	0.10033	-0.309000	0.09137	AGT	.	.	none		0.532	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			G	194080325	C	G	194080325	3	3	10	1	0	0	0	0	1	0	0	0	8970	565	20	4	301	4	LRRC15	3	194080325	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	8889431	194080325	3942105	93	1933										
PAK2	5062	hgsc.bcm.edu	37	chr3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttcataattctgaatcatgtCtgataacggagaactggaag	9	6	4	3	rs67093638		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																					p.S2C		Atlas-SNP	.											PAK2_ENST00000327134,NS,carcinoma,0,4	PAK2	113	4	2	Substitution - Missense(2)	prostate(2)	c.C5G						scavenged	.						81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062	exon2			TCATGTCTGATAA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys	Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	147	2	0.0136054	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT	C|0.986;G|0.014	0.014	strong		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	10	1	0	0	0	0	1	0	0	0	11401	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2429197	196509522	1512908	94	1934										
PAK2	5062	hgsc.bcm.edu	37	chr3	196534708	196534708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	accagttggtgattcacatgTtgatggtgctgccaagtctt	11	8	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr3:196534708T>C	ENST00000327134.3	+	7	954	c.632T>C	c.(631-633)gTt>gCt	p.V211A		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	211					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.V211G(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GATTCACATGTTGATGGTGCT	0.373																																					p.V211A		Atlas-SNP	.											PAK2,NS,carcinoma,0,1	PAK2	113	1	1	Substitution - Missense(1)	lung(1)	c.T632C						scavenged	.						122	115	117					3																	196534708		2203	4300	6503	SO:0001583	missense	5062	exon7			CACATGTTGATGG	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.632T>C	3.37:g.196534708T>C	ENSP00000314067:p.Val211Ala	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	188	2	0.0106383	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.547244	0.00926	.	.	ENSG00000180370	ENST00000327134	T	0.67171	-0.25	5.62	4.46	0.54185	.	0.319855	0.34133	N	0.004223	T	0.41766	0.1173	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33163	-0.9879	10	0.02654	T	1	.	5.6673	0.17702	0.0:0.1522:0.1442:0.7037	.	211	Q13177	PAK2_HUMAN	A	211	ENSP00000314067:V211A	ENSP00000314067:V211A	V	+	2	0	PAK2	198019105	0.976000	0.34144	0.087000	0.20705	0.121000	0.20230	1.491000	0.35583	0.970000	0.38263	0.460000	0.39030	GTT	.	.	none		0.373	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		C	196534708	T	C	196534708	3	2	10	1	0	0	0	0	1	0	0	0	11401	1725	60	2	654	2	PAK2	3	196534708	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	25186	196534708	1487722	95	1935										
STX18	53407	hgsc.bcm.edu	37	chr4	4426931	4426931	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gttcatttcaccaattagtcGctgattttcctgttcaaact	5	10	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:4426931G>A	ENST00000306200.2	-	8	784	c.721C>T	c.(721-723)Cga>Tga	p.R241*	STX18_ENST00000505286.1_Nonsense_Mutation_p.R241*	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	241					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R241*(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CCAATTAGTCGCTGATTTTCC	0.443																																					p.R241X		Atlas-SNP	.											STX18,rectum,carcinoma,0,1	STX18	16	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C721T						scavenged	.						150	124	133					4																	4426931		2203	4300	6503	SO:0001587	stop_gained	53407	exon8			TTAGTCGCTGATT	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.721C>T	4.37:g.4426931G>A	ENSP00000305810:p.Arg241*	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	146	2	0.0136986	NM_016930	Q596L3|Q5TZP5	Nonsense_Mutation	SNP	ENST00000306200.2	37	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658307	0.88154	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	.	.	.	5.3	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.0885	14.9737	0.71254	0.0:0.0:0.7837:0.2163	.	.	.	.	X	241;241;160;160	.	ENSP00000305810:R241X	R	-	1	2	STX18	4477832	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	2.298000	0.43602	2.478000	0.83669	0.563000	0.77884	CGA	.	.	none		0.443	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			A	4426931	G	A	4426931	4	1	10	1	0	0	0	0	0	1	0	0	15340	1095	38	1	302	1	STX18	4	4426931	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10		4426931	186727345	96	1936										
LAP3	51056	hgsc.bcm.edu	37	chr4	17606285	17606285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctggctctggaacaaactcTtcgaggtaggaataatattt	9	8	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:17606285T>C	ENST00000226299.4	+	11	1529	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.F388L|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	419					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GAACAAACTCTTCGAGGTAGG	0.418																																					p.F419L		Atlas-SNP	.											.	LAP3	50	.	0			c.T1255C						PASS	.						107	101	103					4																	17606285		2203	4300	6503	SO:0001583	missense	51056	exon11			AAACTCTTCGAGG	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1255T>C	4.37:g.17606285T>C	ENSP00000226299:p.Phe419Leu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	107	39	0.364486	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	T	9.660	1.143920	0.21205	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.39229	1.09;1.14	5.84	3.41	0.39046	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.261443	0.44097	N	0.000492	T	0.12689	0.0308	N	0.00707	-1.245	0.29001	N	0.887486	B	0.27416	0.178	B	0.30495	0.116	T	0.31052	-0.9957	10	0.09338	T	0.73	-2.9227	8.5381	0.33375	0.0:0.2084:0.0:0.7916	.	419	P28838	AMPL_HUMAN	L	419;189	ENSP00000226299:F419L;ENSP00000424724:F189L	ENSP00000226299:F419L	F	+	1	0	LAP3	17215383	1.000000	0.71417	0.216000	0.23742	0.270000	0.26580	5.560000	0.67332	0.473000	0.27368	-0.290000	0.09829	TTC	.	.	none		0.418	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			C	17606285	T	C	17606285	3	2	10	1	0	0	0	0	1	0	0	0	8623	1609	56	3	1297	3	LAP3	4	17606285	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	13179354	17606285	173547991	97	1937										
AFF1	4299	hgsc.bcm.edu	37	chr4	88026962	88026962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttattgtgaatgcctagacCccagagaagcctccctcctc	7	15	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:88026962C>T	ENST00000307808.6	+	9	1740	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	AFF1_ENST00000544085.1_Silent_p.T78T|AFF1_ENST00000395146.4_Silent_p.T447T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	440					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATGCCTAGACCCCAGAGAAGC	0.428																																					p.T447T		Atlas-SNP	.											AFF1_ENST00000395146,NS,carcinoma,+1,1	AFF1	102	1	0			c.C1341T						scavenged	.						225	215	218					4																	88026962		2203	4300	6503	SO:0001819	synonymous_variant	4299	exon10			CTAGACCCCAGAG	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1320C>T	4.37:g.88026962C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	185	2	0.0108108	NM_001166693	B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	CCDS3616.1																																																																																			.	.	none		0.428	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		T	88026962	C	T	88026962	2	4	10	1	0	0	0	0	0	0	0	1	356	610	22	2		2	AFF1	4	88026962	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	70420677	88026962	103127314	98	1938										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537081	88537081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaagcagtgatagcagtgaCagcagcaatagcagtgacag	13	7	0	3	rs367717407|rs370267258	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		Atlas-SNP	.											.	DSPP	174	.	0			c.C3267T						PASS	.	C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	57	13	0.22807	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	10	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88537081	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	510119	88537081	102617195	99	1939										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537123	88537123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agcgatagcagcgacagcagCgacagcagcgatagcagtga	14	10	0	1	rs372453629	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:88537123C>T	ENST00000282478.7	+	4	3342	c.3309C>T	c.(3307-3309)agC>agT	p.S1103S	DSPP_ENST00000399271.1_Silent_p.S1103S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1103	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcgacagcagcgacagcagcg	0.547													c|||	2714	0.541933	0.5439	0.6254	5008	,	,		13665	0.5903		0.5467	False		,,,				2504	0.4254				p.S1103S		Atlas-SNP	.											DSPP,NS,carcinoma,0,2	DSPP	174	2	0			c.C3309T						scavenged	.						12	19	17					4																	88537123		1097	2123	3220	SO:0001819	synonymous_variant	1834	exon5			CAGCAGCGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3309C>T	4.37:g.88537123C>T		Somatic	31	18	0.580645		WXS	Illumina HiSeq	Phase_I	49	44	0.897959	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537123	C	T	88537123	2	4	10	1	0	0	0	0	0	0	0	1	4782	767	27	1		1	DSPP	4	88537123	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	42	88537123	102617153	100	1940										
FAM190A	401145	hgsc.bcm.edu	37	chr4	91321217	91321217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ataatttgggatcttgtgaaCtggatgaagatgatctaatg	11	3	2	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:91321217C>T	ENST00000509176.1	+	4	1828	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CCSER1_ENST00000432775.2_Silent_p.L514L|CCSER1_ENST00000333691.8_Silent_p.L514L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	514																	ATCTTGTGAACTGGATGAAGA	0.333																																					p.L514L		Atlas-SNP	.											FAM190A_ENST00000509176,NS,carcinoma,-2,3	.	.	3	0			c.C1540T						scavenged	.						201	170	180					4																	91321217		1846	4111	5957	SO:0001819	synonymous_variant	401145	exon4			TGTGAACTGGATG		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1540C>T	4.37:g.91321217C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_001145065	Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	CCDS47099.1																																																																																			.	.	none		0.333	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91321217	C	T	91321217	2	4	10	1	0	0	0	0	0	0	0	1	5521	564	20	2		2	FAM190A	4	91321217	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2784094	91321217	99833059	101	1941										
AIMP1	9255	hgsc.bcm.edu	37	chr4	107246152	107246152	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttcctataggattttctgcCgtctcttggcaaaaatggca	8	9	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:107246152C>T	ENST00000442366.1	+	0	38				AIMP1_ENST00000394701.4_Missense_Mutation_p.R20C|AIMP1_ENST00000358008.3_5'UTR	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GATTTTCTGCCGTCTCTTGGC	0.358																																					p.R20C		Atlas-SNP	.											.	AIMP1	20	.	0			c.C58T						PASS	.						42	41	41					4																	107246152		2202	4300	6502	SO:0001623	5_prime_UTR_variant	9255	exon2			TTCTGCCGTCTCT	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.-15C>T	4.37:g.107246152C>T		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	295	69	0.233898	NM_001142416	B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	7.740	0.701160	0.15172	.	.	ENSG00000164022	ENST00000394701	T	0.26223	1.75	5.06	2.42	0.29668	.	0.253283	0.34268	U	0.004120	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11324	-1.0592	7	0.59425	D	0.04	-8.449	10.7435	0.46166	0.0:0.7985:0.0:0.2015	.	.	.	.	C	20	ENSP00000378191:R20C	ENSP00000378191:R20C	R	+	1	0	AIMP1	107465601	1.000000	0.71417	0.985000	0.45067	0.115000	0.19883	2.116000	0.41930	0.195000	0.20347	-0.964000	0.02622	CGT	.	.	none		0.358	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		T	107246152	C	T	107246152	1	4	10	0	1	0	0	0	0	0	0	0	433	652	23	1		1	AIMP1	4	107246152	5'UTR	SNP	C	TCGA-FF-8041-01A-11D-2210-10	15924935	107246152	83908124	102	1942										
PITX2	5308	hgsc.bcm.edu	37	chr4	111539469	111539469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acaggcaggcgtcggcaccgCggaattcagcgacgggctac	15	13	1	0	rs149181425		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:111539469C>T	ENST00000354925.2	-	7	2471	c.766G>A	c.(766-768)Gcg>Acg	p.A256T	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Missense_Mutation_p.A256T|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000355080.5_Missense_Mutation_p.A210T|PITX2_ENST00000306732.3_Missense_Mutation_p.A263T|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GTCGGCACCGCGGAATTCAGC	0.592																																					p.A263T		Atlas-SNP	.											.	PITX2	73	.	0			c.G787A						PASS	.						45	49	48					4																	111539469		2203	4300	6503	SO:0001583	missense	5308	exon3			GCACCGCGGAATT	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.766G>A	4.37:g.111539469C>T	ENSP00000347004:p.Ala256Thr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	162	40	0.246914	NM_000325	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315299	0.60524	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93366	-2.86;-2.99;-3.13;-2.99;-3.21	5.68	4.84	0.62591	.	0.267779	0.42548	D	0.000699	D	0.91334	0.7267	L	0.54908	1.71	0.80722	D	1	P;B;P;P	0.48162	0.802;0.104;0.906;0.701	B;B;B;B	0.42738	0.355;0.016;0.283;0.396	D	0.89846	0.4006	10	0.33141	T	0.24	.	14.5613	0.68140	0.0:0.9297:0.0:0.0703	.	210;210;256;263	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	T	263;256;210;256;256	ENSP00000304169:A263T;ENSP00000378097:A256T;ENSP00000347192:A210T;ENSP00000347004:A256T;ENSP00000421454:A256T	ENSP00000304169:A263T	A	-	1	0	PITX2	111758918	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	1.405000	0.46838	0.655000	0.94253	GCG	C|1.000;A|0.000	.	alt		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			T	111539469	C	T	111539469	3	4	10	1	0	0	0	0	1	0	0	0	11955	768	27	1	191	1	PITX2	4	111539469	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4293317	111539469	79614807	103	1943										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811125	140811125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgctgctgctgctgctgttGctgttgctgtttctgctgca	12	11	1	0	rs62344940		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:140811125G>T	ENST00000509479.2	-	2	2321	c.1465C>A	c.(1465-1467)Caa>Aaa	p.Q489K	MAML3_ENST00000398940.1_Missense_Mutation_p.Q28K|MAML3_ENST00000327122.5_Missense_Mutation_p.Q333K	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgctgttgctgttgctgt	0.552																																					p.Q489K		Atlas-SNP	.											MAML3_ENST00000509479,colon,carcinoma,+2,2	MAML3	192	2	0			c.C1465A						scavenged	.						17	20	19					4																	140811125		2194	4294	6488	SO:0001583	missense	55534	exon2			GCTGTTGCTGTTG	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1465C>A	4.37:g.140811125G>T	ENSP00000421180:p.Gln489Lys	Somatic	69	4	0.057971		WXS	Illumina HiSeq	Phase_I	88	11	0.125	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	3.000	-0.206260	0.06180	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.76448	0.83;-1.02	2.61	2.61	0.31194	.	0.000000	0.64402	D	0.000001	T	0.66607	0.2806	N	0.08118	0	0.31344	N	0.683255	P	0.43392	0.805	P	0.59424	0.857	T	0.64106	-0.6485	10	0.05436	T	0.98	.	8.8799	0.35367	0.0:0.0:1.0:0.0	rs62344940	489	Q96JK9	MAML3_HUMAN	K	489;333;28	ENSP00000421180:Q489K;ENSP00000313316:Q333K	ENSP00000313316:Q333K	Q	-	1	0	MAML3	141030575	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.291000	0.51764	1.788000	0.52465	0.484000	0.47621	CAA	.	.	weak		0.552	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811125	G	T	140811125	3	4	10	1	0	0	0	0	1	0	0	0	9207	1328	46	4	1959	4	MAML3	4	140811125	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	29271656	140811125	50343151	104	1944										
TKTL2	84076	hgsc.bcm.edu	37	chr4	164394041	164394041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgagattctcattggtctgTatctgactctcaattaattt	6	7	4	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:164394041T>C	ENST00000280605.3	-	1	1006	c.846A>G	c.(844-846)atA>atG	p.I282M		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	282						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)				CATTGGTCTGTATCTGACTCT	0.408																																					p.I282M		Atlas-SNP	.											TKTL2,colon,carcinoma,-1,1	TKTL2	130	1	0			c.A846G						scavenged	.						162	164	163					4																	164394041		2203	4300	6503	SO:0001583	missense	84076	exon1			GGTCTGTATCTGA	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.846A>G	4.37:g.164394041T>C	ENSP00000280605:p.Ile282Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	256	4	0.015625	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	4.918	0.170509	0.09391	.	.	ENSG00000151005	ENST00000280605	T	0.23754	1.89	4.3	-5.0	0.03001	.	0.114059	0.56097	D	0.000027	T	0.24812	0.0602	M	0.73962	2.25	0.42611	D	0.993318	P	0.34684	0.463	B	0.38985	0.287	T	0.05115	-1.0905	10	0.46703	T	0.11	-0.848	7.4155	0.27042	0.0:0.2489:0.5194:0.2317	.	282	Q9H0I9	TKTL2_HUMAN	M	282	ENSP00000280605:I282M	ENSP00000280605:I282M	I	-	3	3	TKTL2	164613491	1.000000	0.71417	0.400000	0.26346	0.113000	0.19764	0.517000	0.22832	-0.854000	0.04131	-0.250000	0.11733	ATA	.	.	none		0.408	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		C	164394041	T	C	164394041	3	2	10	1	0	0	0	0	1	0	0	0	15933	1628	57	2	1038	2	TKTL2	4	164394041	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	23582916	164394041	26760235	105	1945										
MFAP3L	9848	hgsc.bcm.edu	37	chr4	170913142	170913142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aggtgatgatggggatgcgcTtggcgatctcaaatgccttc	14	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:170913142T>C	ENST00000361618.3	-	3	924	c.617A>G	c.(616-618)aAg>aGg	p.K206R	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.K103R	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GGGGATGCGCTTGGCGATCTC	0.512																																					p.K206R		Atlas-SNP	.											MFAP3L,caecum,carcinoma,0,1	MFAP3L	59	1	0			c.A617G						scavenged	.						136	141	139					4																	170913142		2203	4300	6503	SO:0001583	missense	9848	exon3			ATGCGCTTGGCGA	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.617A>G	4.37:g.170913142T>C	ENSP00000354583:p.Lys206Arg	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	250	4	0.016	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359264	0.82353	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.98807	-5.15;-2.08;-4.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99855	1.1076	10	0.54805	T	0.06	-15.6292	15.6799	0.77360	0.0:0.0:0.0:1.0	.	206	O75121	MFA3L_HUMAN	R	103;206;103	ENSP00000377307:K103R;ENSP00000354583:K206R;ENSP00000422791:K103R	ENSP00000354583:K206R	K	-	2	0	MFAP3L	171149717	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.040000	0.89188	2.104000	0.64026	0.454000	0.30748	AAG	.	.	none		0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		C	170913142	T	C	170913142	3	2	10	1	0	0	0	0	1	0	0	0	9516	1609	56	3	616	3	MFAP3L	4	170913142	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	6519101	170913142	20241134	106	1946										
FAT1	2195	hgsc.bcm.edu	37	chr4	187629904	187629904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttgactggcccggctttgaActgtggagaagtcacgtgaa	13	9	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:187629904A>C	ENST00000441802.2	-	2	1287	c.1078T>G	c.(1078-1080)Ttc>Gtc	p.F360V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	360					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCGGCTTTGAACTGTGGAGAA	0.458										HNSCC(5;0.00058)																											p.F360V	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.T1078G						PASS	.						121	114	116					4																	187629904		1864	4103	5967	SO:0001583	missense	2195	exon2			CTTTGAACTGTGG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1078T>G	4.37:g.187629904A>C	ENSP00000406229:p.Phe360Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	88	19	0.215909	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	9.719	1.159141	0.21454	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.69306	-0.39;0.54	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	N	0.17278	0.47	0.80722	D	1	P	0.43431	0.807	B	0.40940	0.344	T	0.49051	-0.8979	10	0.11485	T	0.65	.	15.4097	0.74908	1.0:0.0:0.0:0.0	.	360	Q14517	FAT1_HUMAN	V	360	ENSP00000406229:F360V;ENSP00000423736:F360V	ENSP00000260147:F360V	F	-	1	0	FAT1	187866898	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.956000	0.70315	2.229000	0.72834	0.482000	0.46254	TTC	.	.	none		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187629904	A	C	187629904	3	2	10	1	0	0	0	0	1	0	0	0	5689	43	2	5	12792	5	FAT1	4	187629904	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	16716762	187629904	3524372	107	1947										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873335	190873335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aggaatctggtggacagtaaCaaactttggtgaaatttcag	11	5	2	1	rs191989708		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:190873335C>T	ENST00000226798.4	+	3	374	c.152C>T	c.(151-153)aCa>aTa	p.T51I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	51					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T51I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACAGTAACAAACTTTGGT	0.318																																					p.T51I		Atlas-SNP	.											FRG1,trunk,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.C152T						scavenged	.						75	88	84					4																	190873335		2201	4292	6493	SO:0001583	missense	2483	exon3			CAGTAACAAACTT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.152C>T	4.37:g.190873335C>T	ENSP00000226798:p.Thr51Ile	Somatic	112	6	0.0535714		WXS	Illumina HiSeq	Phase_I	116	11	0.0948276	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	10.16	1.274422	0.23307	.	.	ENSG00000109536	ENST00000226798	T	0.31510	1.49	3.47	3.47	0.39725	.	0.513050	0.23249	N	0.050263	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.26969	0.075	T	0.13176	-1.0519	10	0.48119	T	0.1	-12.4703	8.4161	0.32672	0.2332:0.7668:0.0:0.0	.	51	Q14331	FRG1_HUMAN	I	51	ENSP00000226798:T51I	ENSP00000226798:T51I	T	+	2	0	FRG1	191110329	0.290000	0.24343	0.875000	0.34327	0.947000	0.59692	1.089000	0.30890	2.238000	0.73509	0.539000	0.68188	ACA	.	.	weak		0.318	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190873335	C	T	190873335	3	4	10	1	0	0	0	0	1	0	0	0	6046	478	17	2	162	2	FRG1	4	190873335	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3243431	190873335	280941	108	1948										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccatagccattgaaatggatAagggaacctatatacatgca	8	8	0	1	rs112612436		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																					p.K66E		Atlas-SNP	.											FRG1,arm,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.A196G						scavenged	.						101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483	exon3			ATGGATAAGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic	135	16	0.118519		WXS	Illumina HiSeq	Phase_I	119	24	0.201681	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG	.	.	weak		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	10	1	0	0	0	0	1	0	0	0	6046	363	13	2	206	2	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	44	190873379	280897	109	1949										
SDHA	6389	hgsc.bcm.edu	37	chr5	236617	236617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggggaggccgcctgtgcctcGgtacatggtgccaaccgcct	15	14	0	0	rs200223188	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000510361.1_Silent_p.S397S|SDHA_ENST00000504309.1_Silent_p.S445S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial Paragangliomas				G|||	2	0.000399361	0.0015	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0				p.S445S		Atlas-SNP	.											SDHA,NS,carcinoma,0,1	SDHA	80	1	1	Substitution - coding silent(1)	breast(1)	c.G1335T						scavenged	.						73	67	69					5																	236617		2203	4300	6503	SO:0001819	synonymous_variant	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCTCGGTACAT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1335G>T	5.37:g.236617G>T		Somatic	317	4	0.0126183		WXS	Illumina HiSeq	Phase_I	443	6	0.013544	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	CCDS3853.1																																																																																			A|0.002;G|0.988;T|0.011	0.011	strong		0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	236617	G	T	236617	2	4	10	1	0	0	0	0	0	0	0	1	13963	1103	39	4		4	SDHA	5	236617	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10		236617	180678643	110	1950										
C5orf38	153571	hgsc.bcm.edu	37	chr5	2752510	2752510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctggtcgcctacccctcgcGgtccactccgcccagcatgg	10	19	1	0	rs181498861	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:2752510G>A	ENST00000334000.3	+	1	249	c.132G>A	c.(130-132)gcG>gcA	p.A44A	C5orf38_ENST00000515640.1_Silent_p.A44A|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Silent_p.A44A|IRX2_ENST00000502957.1_Intron|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000505778.1_Silent_p.A44A|C5orf38_ENST00000457752.2_Silent_p.A44A	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	44						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TACCCCTCGCGGTCCACTCCG	0.701																																					p.A44A		Atlas-SNP	.											.	C5orf38	20	.	0			c.G132A						PASS	.						14	16	15					5																	2752510		2199	4294	6493	SO:0001819	synonymous_variant	153571	exon1			CCTCGCGGTCCAC	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.132G>A	5.37:g.2752510G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	51	17	0.333333	NM_178569		Silent	SNP	ENST00000334000.3	37	CCDS34131.1																																																																																			G|0.999;C|0.001	.	alt		0.701	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		A	2752510	G	A	2752510	2	1	10	1	0	0	0	0	0	0	0	1	2296	1103	39	1		1	C5orf38	5	2752510	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2515893	2752510	178162750	111	1951										
ADCY2	108	hgsc.bcm.edu	37	chr5	7766919	7766919	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagaatttatttttcctcccGgtaagaacattgcaattatg	6	8	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:7766919G>A	ENST00000338316.4	+	17	2303	c.2214G>A	c.(2212-2214)ccG>ccA	p.P738P	ADCY2_ENST00000537121.1_Splice_Site_p.P558P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	738					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCCTCCCGGTAAGAACAT	0.423																																					p.P738P		Atlas-SNP	.											ADCY2,right_upper_lobe,carcinoma,0,1	ADCY2	337	1	0			c.G2214A						scavenged	.						190	197	194					5																	7766919		2203	4300	6503	SO:0001630	splice_region_variant	108	exon17			CCTCCCGGTAAGA	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2214+1G>A	5.37:g.7766919G>A		Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	199	5	0.0251256	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																			.	.	none		0.423	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Silent	A	7766919	G	A	7766919	5	1	10	1	0	0	0	0	0	0	1	0	294	1130	39	1	2280	1	ADCY2	5	7766919	Splice_Site	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5014409	7766919	173148341	112	1952										
ADAMTS12	81792	hgsc.bcm.edu	37	chr5	33576895	33576895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttccagtggaaatgagatagCgagagctcagctcaggttgg	14	7	2	2	rs202204545		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:33576895C>T	ENST00000504830.1	-	19	3571	c.3236G>A	c.(3235-3237)cGc>cAc	p.R1079H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R994H|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1079	Spacer 2.				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						AATGAGATAGCGAGAGCTCAG	0.517										HNSCC(64;0.19)																											p.R1079H		Atlas-SNP	.											ADAMTS12,NS,carcinoma,-1,1	ADAMTS12	464	1	0			c.G3236A						scavenged	.						120	113	116					5																	33576895		2203	4300	6503	SO:0001583	missense	81792	exon19			AGATAGCGAGAGC	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.3236G>A	5.37:g.33576895C>T	ENSP00000422554:p.Arg1079His	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	214	4	0.0186916	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	c	3.366	-0.129536	0.06753	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.43294	0.95;0.95	4.93	-6.33	0.01988	.	1.928310	0.01728	N	0.028718	T	0.14270	0.0345	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16837	-1.0389	10	0.15499	T	0.54	.	6.279	0.20997	0.0:0.2804:0.3558:0.3638	.	994;1079	P58397-3;P58397	.;ATS12_HUMAN	H	1079;994	ENSP00000422554:R1079H;ENSP00000344847:R994H	ENSP00000344847:R994H	R	-	2	0	ADAMTS12	33612652	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.456000	0.06754	-0.869000	0.04052	-1.122000	0.02009	CGC	.	.	weak		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33576895	C	T	33576895	3	4	10	1	0	0	0	0	1	0	0	0	257	768	27	1	1572	1	ADAMTS12	5	33576895	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	25809976	33576895	147338365	113	1953										
DEPDC1B	55789	hgsc.bcm.edu	37	chr5	59941337	59941337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actatgataatgtcatagacTtccatatctcttctacattg	4	9	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:59941337T>C	ENST00000265036.5	-	4	627	c.560A>G	c.(559-561)aAg>aGg	p.K187R	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.K160R|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.K187R	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	187					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGTCATAGACTTCCATATCTC	0.383																																					p.K187R		Atlas-SNP	.											DEPDC1B,NS,carcinoma,-1,1	DEPDC1B	56	1	0			c.A560G						scavenged	.						69	70	70					5																	59941337		2203	4300	6503	SO:0001583	missense	55789	exon4			ATAGACTTCCATA	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.560A>G	5.37:g.59941337T>C	ENSP00000265036:p.Lys187Arg	Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	297	3	0.010101	NM_001145208	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373660	0.42105	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.31769	2.16;1.87;1.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	L	0.33137	0.985	0.49299	D	0.999773	B;P	0.39391	0.209;0.671	B;B	0.36464	0.162;0.225	T	0.02491	-1.1151	9	.	.	.	-27.8066	16.5602	0.84551	0.0:0.0:0.0:1.0	.	187;187	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	R	187;187;160	ENSP00000265036:K187R;ENSP00000389101:K187R;ENSP00000438320:K160R	.	K	-	2	0	DEPDC1B	59977094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.124000	0.57924	2.367000	0.80283	0.528000	0.53228	AAG	.	.	none		0.383	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		C	59941337	T	C	59941337	3	2	10	1	0	0	0	0	1	0	0	0	4440	1609	56	3	1061	3	DEPDC1B	5	59941337	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	26364442	59941337	120973923	114	1954										
DMGDH	29958	hgsc.bcm.edu	37	chr5	78359591	78359591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttccattgtgtttctgcagAtaagggtggtttttcctctc	9	8	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:78359591A>G	ENST00000255189.3	-	2	149	c.121T>C	c.(121-123)Tct>Cct	p.S41P	DMGDH_ENST00000380311.4_5'UTR|DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	41					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTTTCTGCAGATAAGGGTGGT	0.468																																					p.S41P		Atlas-SNP	.											DMGDH,rectum,carcinoma,+1,1	DMGDH	88	1	0			c.T121C						scavenged	.						234	198	210					5																	78359591		2203	4300	6503	SO:0001583	missense	29958	exon2			CTGCAGATAAGGG	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.121T>C	5.37:g.78359591A>G	ENSP00000255189:p.Ser41Pro	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	265	4	0.0150943	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263408	0.23051	.	.	ENSG00000132837	ENST00000255189	T	0.75050	-0.9	5.25	-7.77	0.01227	.	1.238380	0.05342	N	0.530281	T	0.49508	0.1561	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.33141	T	0.24	.	9.3477	0.38118	0.3955:0.0:0.5012:0.1033	.	41	Q9UI17	M2GD_HUMAN	P	41	ENSP00000255189:S41P	ENSP00000255189:S41P	S	-	1	0	DMGDH	78395347	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.360000	0.07622	-1.315000	0.02297	-0.379000	0.06801	TCT	.	.	none		0.468	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		G	78359591	A	G	78359591	3	3	10	1	0	0	0	0	1	0	0	0	4581	333	12	2	2539	2	DMGDH	5	78359591	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	18418254	78359591	102555669	115	1955										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79032516	79032516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccggtggctctttcttgtcGtgatgaaatagagaaccact	11	9	2	3	rs368525698		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:79032516G>A	ENST00000446378.2	+	2	7959	c.7928G>A	c.(7927-7929)cGt>cAt	p.R2643H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2643					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTCTTGTCGTGATGAAATA	0.408																																					p.R2643H		Atlas-SNP	.											CMYA5_ENST00000446378,caecum,carcinoma,+1,2	CMYA5	643	2	0			c.G7928A						scavenged	.	G	HIS/ARG	2,3622		0,2,1810	50	51	51		7928	-7.2	0	5		51	0,8166		0,0,4083	no	missense	CMYA5	NM_153610.3	29	0,2,5893	AA,AG,GG		0.0,0.0552,0.017	benign	2643/4070	79032516	2,11788	1812	4083	5895	SO:0001583	missense	202333	exon2			CTTGTCGTGATGA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7928G>A	5.37:g.79032516G>A	ENSP00000394770:p.Arg2643His	Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	142	5	0.0352113	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097445	0.20552	5.52E-4	0.0	ENSG00000164309	ENST00000446378	T	0.42900	0.96	3.62	-7.25	0.01470	.	.	.	.	.	T	0.16599	0.0399	N	0.11201	0.11	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.23797	-1.0178	9	0.17369	T	0.5	.	6.3433	0.21335	0.5344:0.2466:0.219:0.0	.	2643	Q8N3K9	CMYA5_HUMAN	H	2643	ENSP00000394770:R2643H	ENSP00000394770:R2643H	R	+	2	0	CMYA5	79068272	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-1.953000	0.01526	-1.518000	0.01778	-0.515000	0.04445	CGT	.	.	weak		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79032516	G	A	79032516	3	1	10	1	0	0	0	0	1	0	0	0	3590	1145	40	1	7934	1	CMYA5	5	79032516	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	672925	79032516	101882744	116	1956										
ERAP1	51752	hgsc.bcm.edu	37	chr5	96116871	96116871	+	Frame_Shift_Del	DEL	T	T	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggaaactcctgagtttttaTtttatctcccttaaagcttt							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:96116871delT	ENST00000443439.2	-	17	2545	c.2479delA	c.(2479-2481)atafs	p.I827fs	ERAP1_ENST00000514604.1_5'Flank|ERAP1_ENST00000296754.3_Frame_Shift_Del_p.I827fs	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	827					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TGAGTTTTTATTTTATCTCCC	0.373																																					p.I827fs		Pindel,Atlas-Indel	.											.	ERAP1	59	.	0			c.2480delT						PASS	.						84	89	87					5																	96116871		2203	4300	6503	SO:0001589	frameshift_variant	51752	exon17			.	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2479delA	5.37:g.96116871delT	ENSP00000406304:p.Ile827fs	Somatic	87	.	.		WXS	Illumina HiSeq	Phase_I	128	31	0.242	NM_001198541	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	CCDS47250.1																																																																																			.	.	none		0.373	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		-	96116871	T	-	96116871	7	5	10	1	0	1	0	1	0	0	0	0	5203	1493	52	0	391	0	ERAP1	5	96116871	Frame_Shift_Del	DEL	T	TCGA-FF-8041-01A-11D-2210-10	17084355	96116871	84798389	117	1957										
ERAP1	51752	hgsc.bcm.edu	37	chr5	96129142	96129142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtcacactgacagacacaaaCtccataaatttggcaaatcc	5	12	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:96129142C>T	ENST00000443439.2	-	7	1215	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	ERAP1_ENST00000296754.3_Silent_p.E383E	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	383					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAGACACAAACTCCATAAATT	0.373																																					p.E383E		Atlas-SNP	.											ERAP1,colon,carcinoma,-2,1	ERAP1	59	1	0			c.G1149A						scavenged	.						106	88	94					5																	96129142		2203	4300	6503	SO:0001819	synonymous_variant	51752	exon7			CACAAACTCCATA	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1149G>A	5.37:g.96129142C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	259	3	0.011583	NM_001198541	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	37	CCDS47250.1																																																																																			.	.	none		0.373	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		T	96129142	C	T	96129142	2	4	10	1	0	0	0	0	0	0	0	1	5203	564	20	2		2	ERAP1	5	96129142	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	12271	96129142	84786118	118	1958										
APC	324	hgsc.bcm.edu	37	chr5	112176927	112176927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgacctttccagggaaaaggCtgaattaagaaaggcaaaag	11	6	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:112176927C>T	ENST00000457016.1	+	16	6016	c.5636C>T	c.(5635-5637)gCt>gTt	p.A1879V	APC_ENST00000257430.4_Missense_Mutation_p.A1879V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A1879V			P25054	APC_HUMAN	adenomatous polyposis coli	1879	Highly charged.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGGAAAAGGCTGAATTAAGA	0.383		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A1879V	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,colon,carcinoma,+1,1	APC	4158	1	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	c.C5636T						scavenged	.						83	80	81					5																	112176927		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	AAAAGGCTGAATT	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5636C>T	5.37:g.112176927C>T	ENSP00000413133:p.Ala1879Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	179	3	0.0167598	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377824	0.42105	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91686	-2.89;-2.89;-2.89	6.07	5.18	0.71444	.	0.065670	0.64402	D	0.000006	D	0.87865	0.6285	L	0.34521	1.04	0.58432	D	0.999999	P;B	0.38440	0.631;0.155	B;B	0.37422	0.249;0.183	D	0.86003	0.1496	9	.	.	.	-11.778	16.585	0.84725	0.1314:0.8685:0.0:0.0	.	1881;1879	Q4LE70;P25054	.;APC_HUMAN	V	1879	ENSP00000413133:A1879V;ENSP00000257430:A1879V;ENSP00000427089:A1879V	.	A	+	2	0	APC	112204826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.576000	0.60915	1.539000	0.49286	0.650000	0.86243	GCT	.	.	none		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112176927	C	T	112176927	3	4	10	1	0	0	0	0	1	0	0	0	763	797	28	2	5694	2	APC	5	112176927	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	16047785	112176927	68738333	119	1959										
TNFAIP8	25816	hgsc.bcm.edu	37	chr5	118728686	118728686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caaaacaagaaggaggcagaGaagatcatcaagaacctcat	9	8	3	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:118728686G>A	ENST00000503646.1	+	3	895	c.207G>A	c.(205-207)gaG>gaA	p.E69E	TNFAIP8_ENST00000504771.2_Silent_p.E69E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Silent_p.E59E|TNFAIP8_ENST00000513374.1_Silent_p.E81E|TNFAIP8_ENST00000504642.1_Silent_p.E71E			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	69					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		AGGAGGCAGAGAAGATCATCA	0.428																																					p.E69E		Atlas-SNP	.											.	TNFAIP8	12	.	0			c.G207A						PASS	.						70	67	68					5																	118728686		2021	4191	6212	SO:0001819	synonymous_variant	25816	exon2			GGCAGAGAAGATC	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.207G>A	5.37:g.118728686G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	170	54	0.317647	NM_014350	B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Silent	SNP	ENST00000503646.1	37	CCDS47258.1																																																																																			.	.	none		0.428	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		A	118728686	G	A	118728686	2	1	10	1	0	0	0	0	0	0	0	1	16273	933	33	2		2	TNFAIP8	5	118728686	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6551759	118728686	62186574	120	1960										
GRAMD3	65983	hgsc.bcm.edu	37	chr5	125813449	125813449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actgctcttctagtgccaaaCgccctgatcatagcaacagt	7	13	3	1	rs375006587		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:125813449C>T	ENST00000285689.3	+	6	1013	c.552C>T	c.(550-552)aaC>aaT	p.N184N	GRAMD3_ENST00000511134.1_Silent_p.N168N|GRAMD3_ENST00000502348.1_Silent_p.N75N|GRAMD3_ENST00000543198.1_Silent_p.N161N|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000542322.1_Silent_p.N192N|GRAMD3_ENST00000515200.1_Silent_p.N161N|GRAMD3_ENST00000513040.1_Silent_p.N199N|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Silent_p.N80N	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	184						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TAGTGCCAAACGCCCTGATCA	0.488																																					p.N199N		Atlas-SNP	.											.	GRAMD3	30	.	0			c.C597T						PASS	.	C	,,,,	1,4405	2.1+/-5.4	0,1,2202	114	116	115		597,240,576,504,552	-0.1	1	5		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRAMD3	NM_001146319.1,NM_001146320.1,NM_001146321.1,NM_001146322.1,NM_023927.2	,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,	199/448,80/329,192/441,168/417,184/433	125813449	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	65983	exon6			GCCAAACGCCCTG	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.552C>T	5.37:g.125813449C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	146	35	0.239726	NM_001146319	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Silent	SNP	ENST00000285689.3	37	CCDS4136.1																																																																																			.	.	weak		0.488	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		T	125813449	C	T	125813449	2	4	10	1	0	0	0	0	0	0	0	1	6751	535	19	1		1	GRAMD3	5	125813449	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7084763	125813449	55101811	121	1961										
FNIP1	96459	hgsc.bcm.edu	37	chr5	131013444	131013444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgagtctttgccaacatgtCcacactctgagaggaatgct	9	10	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:131013444C>G	ENST00000510461.1	-	13	1566	c.1471G>C	c.(1471-1473)Gac>Cac	p.D491H	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D446H|FNIP1_ENST00000307968.7_Missense_Mutation_p.D463H|FNIP1_ENST00000511848.1_Missense_Mutation_p.D491H	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	491					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCCAACATGTCCACACTCTGA	0.398																																					p.D491H		Atlas-SNP	.											.	FNIP1	104	.	0			c.G1471C						PASS	.						128	124	125					5																	131013444		2203	4300	6503	SO:0001583	missense	96459	exon13			ACATGTCCACACT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1471G>C	5.37:g.131013444C>G	ENSP00000421985:p.Asp491His	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	126	37	0.293651	NM_133372	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756687	0.89843	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.45	5.45	0.79879	.	.	.	.	.	T	0.53981	0.1830	L	0.55481	1.735	0.80722	D	1	D;D;D;P	0.89917	0.997;1.0;0.997;0.855	P;D;D;P	0.91635	0.858;0.999;0.91;0.667	T	0.53251	-0.8465	9	0.72032	D	0.01	-1.7286	19.6467	0.95778	0.0:1.0:0.0:0.0	.	491;491;463;491	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	H	463;446;251;491;491	ENSP00000309266:D463H;ENSP00000310453:D446H;ENSP00000421985:D491H;ENSP00000425619:D491H	ENSP00000310453:D446H	D	-	1	0	FNIP1	131041343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.716000	0.92895	0.655000	0.94253	GAC	.	.	none		0.398	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		G	131013444	C	G	131013444	3	3	10	1	0	0	0	0	1	0	0	0	5975	855	30	4	2053	4	FNIP1	5	131013444	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5199995	131013444	49901816	122	1962										
SHROOM1	134549	hgsc.bcm.edu	37	chr5	132159799	132159799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctagggcagtattgtgagaGggacctggagtatcattgcc	15	7	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:132159799G>A	ENST00000378679.3	-	7	2358	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	SHROOM1_ENST00000378676.1_Silent_p.P449P|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.P518P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	518					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATTGTGAGAGGGACCTGGAG	0.597																																					p.P518P		Atlas-SNP	.											.	SHROOM1	35	.	0			c.C1554T						PASS	.						71	70	70					5																	132159799		2203	4300	6503	SO:0001819	synonymous_variant	134549	exon4			GTGAGAGGGACCT	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1554C>T	5.37:g.132159799G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	221	39	0.176471	NM_133456	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	CCDS54902.1																																																																																			.	.	none		0.597	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		A	132159799	G	A	132159799	2	1	10	1	0	0	0	0	0	0	0	1	14293	987	35	2		2	SHROOM1	5	132159799	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1146355	132159799	48755461	123	1963										
SKP1	6500	hgsc.bcm.edu	37	chr5	133494195	133494195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttttgatattgaaggtcttgCgaatctcctcaggagttttc	9	7	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:133494195C>T	ENST00000353411.6	-	5	590	c.407G>A	c.(406-408)cGc>cAc	p.R136H	SKP1_ENST00000522552.1_Missense_Mutation_p.R136H|SKP1_ENST00000522855.1_Missense_Mutation_p.R136H|SKP1_ENST00000521216.1_Missense_Mutation_p.R136H|SKP1_ENST00000517625.1_Missense_Mutation_p.R136H	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	136	Interaction with the F-box domain of F- box proteins. {ECO:0000250}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGTCTTGCGAATCTCCTC	0.408																																					p.R136H		Atlas-SNP	.											SKP1,colon,carcinoma,-1,1	SKP1	10	1	0			c.G407A						scavenged	.						156	152	153					5																	133494195		2203	4300	6503	SO:0001583	missense	6500	exon5			GTCTTGCGAATCT	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"S-phase kinase-associated protein 1A (p19A)"	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.407G>A	5.37:g.133494195C>T	ENSP00000231487:p.Arg136His	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	132	45	0.340909	NM_170679	D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405507	0.83230	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321	T;T;T;T;T;T;T	0.59364	0.34;0.29;0.27;0.34;0.34;0.29;0.27	5.06	5.06	0.68205	SKP1 component, dimerisation (2);BTB/POZ fold (1);	0.000000	0.85682	U	0.000000	T	0.75968	0.3922	H	0.95151	3.63	0.80722	D	1	B;B;D	0.59357	0.072;0.048;0.985	B;B;P	0.47528	0.038;0.005;0.549	D	0.85050	0.0928	10	0.66056	D	0.02	-0.7947	18.7998	0.92011	0.0:1.0:0.0:0.0	.	136;136;136	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	H	136	ENSP00000231487:R136H;ENSP00000429472:R136H;ENSP00000431067:R136H;ENSP00000429961:R136H;ENSP00000429686:R136H;ENSP00000331708:R136H;ENSP00000429415:R136H	ENSP00000331708:R136H	R	-	2	0	SKP1	133522094	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.214000	0.77958	2.522000	0.85027	0.563000	0.77884	CGC	.	.	none		0.408	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		T	133494195	C	T	133494195	3	4	10	1	0	0	0	0	1	0	0	0	14361	768	27	1	119	1	SKP1	5	133494195	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1334396	133494195	47421065	124	1964										
ANKHD1	54882	hgsc.bcm.edu	37	chr5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttggaacagagagactggccCgaattcggcaaggagggtct	15	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:139917069C>T	ENST00000360839.2	+	31	7277	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2375						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552																																					p.R2375X		Atlas-SNP	.											.	ANKHD1	233	.	0			c.C7123T						PASS	.						98	92	94					5																	139917069		2203	4300	6503	SO:0001587	stop_gained	54882	exon31			CTGGCCCGAATTC	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7123C>T	5.37:g.139917069C>T	ENSP00000354085:p.Arg2375*	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	162	65	0.401235	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.365931|7.365931	0.98238|0.98238	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|.	.|.	.|.	6.08|6.08	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.36991|.	0.0987|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35748|.	-0.9776|.	3|.	.|0.02654	.|T	.|1	.|.	14.9548|14.9548	0.71104|0.71104	0.2808:0.7192:0.0:0.0|0.2808:0.7192:0.0:0.0	.|.	.|.	.|.	.|.	L|X	865;766|2375;2375;2392;1048;914;699;2375;403	.|.	.|ENSP00000396882:R403X	P|R	+|+	2|1	0|2	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897253|139897253	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	3.195000|3.195000	0.51013|0.51013	1.523000|1.523000	0.49018|0.49018	0.591000|0.591000	0.81541|0.81541	CCG|CGA	.	.	none		0.552	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139917069	C	T	139917069	4	4	10	1	0	0	0	0	0	1	0	0	628	644	23	1	7351	1	ANKHD1	5	139917069	Nonsense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6422874	139917069	40998191	125	1965										
PCDHB1	29930	hgsc.bcm.edu	37	chr5	140432615	140432615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctctacgcgctgagaaccatGgattatgaggccattcaaga	10	10	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140432615G>A	ENST00000306549.3	+	1	1637	c.1560G>A	c.(1558-1560)atG>atA	p.M520I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGAACCATGGATTATGAGG	0.433																																					p.M520I		Atlas-SNP	.											.	PCDHB1	148	.	0			c.G1560A						PASS	.						76	77	77					5																	140432615		2203	4300	6503	SO:0001583	missense	29930	exon1			AACCATGGATTAT	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1560G>A	5.37:g.140432615G>A	ENSP00000307234:p.Met520Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	143	62	0.433566	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601493	0.28534	.	.	ENSG00000171815	ENST00000306549	T	0.47177	0.85	6.11	5.24	0.73138	Cadherin (5);Cadherin-like (1);	0.000000	0.53938	D	0.000046	T	0.32704	0.0838	N	0.17674	0.51	0.35001	D	0.755995	B	0.02656	0.0	B	0.06405	0.002	T	0.38585	-0.9654	10	0.62326	D	0.03	.	10.0729	0.42343	0.0:0.1218:0.5105:0.3678	.	520	Q9Y5F3	PCDB1_HUMAN	I	520	ENSP00000307234:M520I	ENSP00000307234:M520I	M	+	3	0	PCDHB1	140412799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.839000	0.48207	1.579000	0.49836	0.655000	0.94253	ATG	.	.	none		0.433	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		A	140432615	G	A	140432615	3	1	10	1	0	0	0	0	1	0	0	0	11534	1348	47	2	1562	2	PCDHB1	5	140432615	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	515546	140432615	40482645	126	1966										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503155	140503155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140503155G>T	ENST00000194152.1	+	1	1575	c.1575G>T	c.(1573-1575)gcG>gcT	p.A525A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.682																																					p.A525A		Atlas-SNP	.											PCDHB4,caecum,carcinoma,+1,1	PCDHB4	177	1	0			c.G1575T						scavenged	.						69	78	75					5																	140503155		2203	4298	6501	SO:0001819	synonymous_variant	56131	exon1			GCAGGCGTTCGAG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1575G>T	5.37:g.140503155G>T		Somatic	315	2	0.00634921		WXS	Illumina HiSeq	Phase_I	173	4	0.0231214	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.	.	none		0.682	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140503155	G	T	140503155	2	4	10	1	0	0	0	0	0	0	0	1	11544	1132	40	4		4	PCDHB4	5	140503155	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	70540	140503155	40412105	127	1967										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503797	140503797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggcatctggtggacgtaagCggcaccgggaccctgtccca	15	13	1	0	rs561916518		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140503797C>T	ENST00000194152.1	+	1	2217	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	739					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTAAGCGGCACCGGGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		14549	0.0		0.001	False		,,,				2504	0.0				p.S739S		Atlas-SNP	.											.	PCDHB4	177	.	0			c.C2217T						PASS	.						84	96	92					5																	140503797		2203	4300	6503	SO:0001819	synonymous_variant	56131	exon1			CGTAAGCGGCACC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2217C>T	5.37:g.140503797C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.	.	none		0.622	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140503797	C	T	140503797	2	4	10	1	0	0	0	0	0	0	0	1	11544	767	27	1		1	PCDHB4	5	140503797	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	642	140503797	40411463	128	1968										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140554429	140554429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcttctcccagccctacctGcggctcccggaggcggcccc	12	20	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140554429G>A	ENST00000231137.3	+	1	2187	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTACCTGCGGCTCCCGG	0.692																																					p.L671L		Atlas-SNP	.											.	PCDHB7	231	.	0			c.G2013A						PASS	.						49	78	69					5																	140554429		2170	4274	6444	SO:0001819	synonymous_variant	56129	exon1			CTACCTGCGGCTC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2013G>A	5.37:g.140554429G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	37	19	0.513514	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.	.	none		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554429	G	A	140554429	2	1	10	1	0	0	0	0	0	0	0	1	11547	1306	46	2		2	PCDHB7	5	140554429	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	50632	140554429	40360831	129	1969										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140564228	140564228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtggcgttggcctcggtgtcGtcgctcttcctcttttcggt	13	12	2	0	rs540563709		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140564228G>A	ENST00000361016.2	+	1	3249	c.2094G>A	c.(2092-2094)tcG>tcA	p.S698S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	698					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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.697																																					p.S698S		Atlas-SNP	.											PCDHB16,colon,carcinoma,0,2	PCDHB16	159	2	0			c.G2094A						PASS	.						71	75	74					5																	140564228		2201	4297	6498	SO:0001819	synonymous_variant	57717	exon1			GGTGTCGTCGCTC	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2094G>A	5.37:g.140564228G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	55	19	0.345455	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.	.	none		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140564228	G	A	140564228	2	1	10	1	0	0	0	0	0	0	0	1	11541	1132	40	1		1	PCDHB16	5	140564228	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	9799	140564228	40351032	130	1970										
PCDHGB4	8641	hgsc.bcm.edu	37	chr5	140768636	140768636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccatttaaaatattaacttcTtcaagaaacacgtataaatt	2	7	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:140768636T>C	ENST00000519479.1	+	1	1185	c.1185T>C	c.(1183-1185)tcT>tcC	p.S395S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTAACTTCTTCAAGAAACA	0.413																																					p.S395S		Atlas-SNP	.											PCDHGB4,NS,carcinoma,+1,1	PCDHGB4	125	1	0			c.T1185C						scavenged	.						116	117	117					5																	140768636		1901	4123	6024	SO:0001819	synonymous_variant	8641	exon1			AACTTCTTCAAGA	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1185T>C	5.37:g.140768636T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	112	3	0.0267857	NM_032098	O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	CCDS54928.1																																																																																			.	.	none		0.413	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		C	140768636	T	C	140768636	2	2	10	1	0	0	0	0	0	0	0	1	11565	1596	56	3		3	PCDHGB4	5	140768636	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	204408	140768636	40146624	131	1971										
PPP2R2B	5521	hgsc.bcm.edu	37	chr5	145969730	145969730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagcctcaagggtcacatcaCgcttggtgtttctgtcgaac	10	11	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:145969730C>T	ENST00000394413.3	-	9	1682	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R371H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R437H|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R371H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R377H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R429H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R371H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R360H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R360H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R374H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	371					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCACATCACGCTTGGTGTT	0.512																																					p.R477H		Atlas-SNP	.											PPP2R2B_ENST00000508545,NS,haematopoietic_neoplasm,-1,4	PPP2R2B	271	4	0			c.G1430A						PASS	.						85	79	81					5																	145969730		2203	4300	6503	SO:0001583	missense	5521	exon10			ACATCACGCTTGG	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1112G>A	5.37:g.145969730C>T	ENSP00000377935:p.Arg371His	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	142	47	0.330986	NM_181675	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607021	0.66558	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;1.47;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;1.47	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115539	0.64402	D	0.000011	T	0.73249	0.3563	L	0.58669	1.825	0.80722	D	1	B;B;B;B;B;B	0.19445	0.036;0.011;0.011;0.022;0.024;0.02	B;B;B;B;B;B	0.15870	0.008;0.005;0.005;0.014;0.005;0.009	T	0.69803	-0.5046	10	0.54805	T	0.06	-2.5928	19.1301	0.93402	0.0:1.0:0.0:0.0	.	429;377;360;437;374;371	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	371;360;437;371;371;371;360;374;377;429	ENSP00000377935:R371H;ENSP00000431320:R360H;ENSP00000377936:R437H;ENSP00000377933:R371H;ENSP00000349283:R371H;ENSP00000398779:R371H;ENSP00000377932:R360H;ENSP00000336591:R374H;ENSP00000421396:R377H;ENSP00000377931:R429H	ENSP00000336591:R374H	R	-	2	0	AC011357.1	145949923	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	4.465000	0.60141	2.767000	0.95098	0.655000	0.94253	CGT	.	.	none		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		T	145969730	C	T	145969730	3	4	10	1	0	0	0	0	1	0	0	0	12385	536	19	1	223	1	PPP2R2B	5	145969730	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5201094	145969730	34945530	132	1972										
FAT2	2196	hgsc.bcm.edu	37	chr5	150922656	150922656	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttaggaaccacctgaagtcGtactggcaccagagagttcc	10	11	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:150922656G>A	ENST00000261800.5	-	9	8044	c.8032C>T	c.(8032-8034)Cga>Tga	p.R2678*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2678	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGAAGTCGTACTGGCACC	0.473																																					p.R2678X		Atlas-SNP	.											FAT2,NS,carcinoma,+1,1	FAT2	465	1	0			c.C8032T						scavenged	.						74	72	72					5																	150922656		2203	4300	6503	SO:0001587	stop_gained	2196	exon9			GAAGTCGTACTGG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8032C>T	5.37:g.150922656G>A	ENSP00000261800:p.Arg2678*	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_001447	O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	47	12.995082	0.99711	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.55	1.01	0.19927	.	0.345671	0.24014	N	0.042342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	9.7117	0.40249	0.0741:0.0:0.3658:0.5601	.	.	.	.	X	2678	.	ENSP00000261800:R2678X	R	-	1	2	FAT2	150902849	0.729000	0.28090	0.494000	0.27515	0.688000	0.40055	2.397000	0.44477	0.248000	0.21435	-0.521000	0.04368	CGA	.	.	none		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150922656	G	A	150922656	4	1	10	1	0	0	0	0	0	1	0	0	5690	1153	40	1	5077	1	FAT2	5	150922656	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4952926	150922656	29992604	133	1973										
THG1L	54974	hgsc.bcm.edu	37	chr5	157161623	157161623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcctcccagtttgcctccagCtatgtgttttattggcggga	11	11	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:157161623C>G	ENST00000231198.7	+	3	652	c.408C>G	c.(406-408)agC>agG	p.S136R	AC026407.1_ENST00000599823.1_Missense_Mutation_p.A35P	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	136					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCCTCCAGCTATGTGTTTT	0.458																																					p.S136R		Atlas-SNP	.											.	THG1L	31	.	0			c.C408G						PASS	.						160	158	158					5																	157161623		2203	4300	6503	SO:0001583	missense	54974	exon3			CTCCAGCTATGTG	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"interphase cytoplasmic foci protein 45"					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.408C>G	5.37:g.157161623C>G	ENSP00000231198:p.Ser136Arg	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	209	82	0.392345	NM_017872	D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940943	0.52972	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.46063	0.88	5.95	3.8	0.43715	.	0.203335	0.64402	N	0.000017	T	0.54549	0.1865	M	0.83483	2.645	0.58432	D	0.999995	D	0.60160	0.987	P	0.57468	0.821	T	0.53851	-0.8380	10	0.21540	T	0.41	-19.4724	6.4975	0.22150	0.1369:0.669:0.0:0.1941	.	136	Q9NWX6	THG1_HUMAN	R	136;11	ENSP00000231198:S136R	ENSP00000231198:S136R	S	+	3	2	THG1L	157094201	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.323000	0.19593	0.583000	0.29574	0.650000	0.86243	AGC	.	.	none		0.458	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		G	157161623	C	G	157161623	3	3	10	1	0	0	0	0	1	0	0	0	15858	796	28	4	418	4	THG1L	5	157161623	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6238967	157161623	23753637	134	1974										
RNF145	153830	hgsc.bcm.edu	37	chr5	158630641	158630641	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccatgttgtttttttttttCtttttttttttcttggagaa	6	4	2	1	rs74770414|rs74841177|rs368977591		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000274542.2_Silent_p.K23K|RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000520638.1_Silent_p.K9K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363																																					p.K25K		Atlas-SNP	.											RNF145,NS,carcinoma,-1,2	RNF145	110	2	0			c.G75A						scavenged	.						32	34	33					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830	exon2			TTTTTTCTTTTTT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-16G>A	5.37:g.158630641C>T		Somatic	23	1	0.0434783		WXS	Illumina HiSeq	Phase_I	37	4	0.108108	NM_001199380	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																			.	.	weak		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158630641	C	T	158630641	1	4	10	0	1	0	0	0	0	0	0	0	13447	912	32	2		2	RNF145	5	158630641	5'UTR	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1469018	158630641	22284619	135	1975										
HMMR	3161	hgsc.bcm.edu	37	chr5	162910330	162910330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgaagaaattaacaagtggcGtctcctctatgaagaactat	8	7	2	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:162910330G>A	ENST00000358715.3	+	15	1775	c.1739G>A	c.(1738-1740)cGt>cAt	p.R580H	HMMR_ENST00000393915.4_Missense_Mutation_p.R581H|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.R494H|HMMR_ENST00000353866.3_Missense_Mutation_p.R565H			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	580					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AACAAGTGGCGTCTCCTCTAT	0.303																																					p.R581H		Atlas-SNP	.											HMMR,NS,carcinoma,+1,1	HMMR	64	1	0			c.G1742A						scavenged	.						53	59	57					5																	162910330		2193	4297	6490	SO:0001583	missense	3161	exon15			AGTGGCGTCTCCT	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1739G>A	5.37:g.162910330G>A	ENSP00000351554:p.Arg580His	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	164	2	0.0121951	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170091	0.78452	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.55	5.55	0.83447	.	0.044947	0.85682	D	0.000000	T	0.38268	0.1034	M	0.74258	2.255	0.47065	D	0.999309	P;B;P;P	0.50156	0.593;0.36;0.761;0.932	B;B;B;B	0.38954	0.14;0.042;0.286;0.286	T	0.45991	-0.9223	10	0.56958	D	0.05	-9.757	19.8764	0.96873	0.0:0.0:1.0:0.0	.	494;581;565;580	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	H	466;565;581;557;494;580	ENSP00000400527:R466H;ENSP00000185942:R565H;ENSP00000377492:R581H;ENSP00000402673:R494H;ENSP00000351554:R580H	ENSP00000185942:R565H	R	+	2	0	HMMR	162842908	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.742000	0.38248	2.768000	0.95171	0.655000	0.94253	CGT	.	.	none		0.303	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		A	162910330	G	A	162910330	3	1	10	1	0	0	0	0	1	0	0	0	7242	1145	40	1	1800	1	HMMR	5	162910330	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4279689	162910330	18004930	136	1976										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180218805	180218805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccttgaagctgtccctgccCgtatactgcacccgcacctc	8	18	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr5:180218805C>T	ENST00000446023.2	-	3	1917	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	MGAT1_ENST00000333055.3_Silent_p.T389T|MGAT1_ENST00000393340.3_Silent_p.T389T|MGAT1_ENST00000427865.2_Silent_p.T389T|MGAT1_ENST00000307826.4_Silent_p.T389T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	389					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCCCTGCCCGTATACTGCA	0.607																																					p.T389T		Atlas-SNP	.											MGAT1,colon,carcinoma,-1,1	MGAT1	48	1	0			c.G1167A						scavenged	.						76	67	70					5																	180218805		2203	4300	6503	SO:0001819	synonymous_variant	4245	exon3			CCTGCCCGTATAC	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1167G>A	5.37:g.180218805C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	119	2	0.0168067	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	CCDS4458.1																																																																																			.	.	none		0.607	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		T	180218805	C	T	180218805	2	4	10	1	0	0	0	0	0	0	0	1	9542	639	23	1		1	MGAT1	5	180218805	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	17308475	180218805	696455	137	1977										
TFAP2A	7020	hgsc.bcm.edu	37	chr6	10398806	10398806	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcacacaccgcggggctgccGaagccgtgggagatgaggtt	17	11	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:10398806G>A	ENST00000482890.1	-	8	1510	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	TFAP2A_ENST00000379604.2_Silent_p.F386F|TFAP2A_ENST00000379608.3_Silent_p.F380F|TFAP2A_ENST00000379613.3_Silent_p.F388F|TFAP2A_ENST00000319516.4_Silent_p.F382F|TFAP2A_ENST00000497266.1_5'Flank			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	386	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGGGGCTGCCGAAGCCGTGGG	0.627																																					p.F386F		Atlas-SNP	.											TFAP2A_ENST00000379604,right_upper_lobe,carcinoma,0,3	TFAP2A	129	3	0			c.C1158T						scavenged	.						157	170	166					6																	10398806		2203	4300	6503	SO:0001819	synonymous_variant	7020	exon7			GCTGCCGAAGCCG	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1158C>T	6.37:g.10398806G>A		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	163	4	0.0245399	NM_003220	Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	CCDS4510.1																																																																																			.	.	none		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		A	10398806	G	A	10398806	2	1	10	1	0	0	0	0	0	0	0	1	15784	1049	37	1		1	TFAP2A	6	10398806	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10		10398806	160716261	138	1978										
HIST1H2BB	3018	hgsc.bcm.edu	37	chr6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccatggccttggatgagatgCcggtgtcggggtggacctgc	17	10	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547																																					p.G54D		Atlas-SNP	.											HIST1H2BB,NS,carcinoma,0,1	HIST1H2BB	20	1	0			c.G161A						scavenged	.						194	188	190					6																	26043725		2203	4300	6503	SO:0001583	missense	3018	exon1			GAGATGCCGGTGT	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.161G>A	6.37:g.26043725C>T	ENSP00000350580:p.Gly54Asp	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	218	3	0.0137615	NM_021062	Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578593	0.28180	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.82770	0.5109	M	0.93150	3.385	0.58432	D	0.99999	P	0.42161	0.772	P	0.56700	0.804	D	0.86555	0.1837	10	0.87932	D	0	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	54	P33778	H2B1B_HUMAN	D	54	ENSP00000350580:G54D	ENSP00000350580:G54D	G	-	2	0	HIST1H2BB	26151704	1.000000	0.71417	0.578000	0.28575	0.003000	0.03518	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GGC	.	.	none		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		T	26043725	C	T	26043725	3	4	10	1	0	0	0	0	1	0	0	0	7141	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	15644919	26043725	145071342	139	1979										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056385	26056385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctttcgtttgcaccagagtgCccttgctcaccaggctcttg	9	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:26056385C>T	ENST00000343677.2	-	1	314	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	91	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CACCAGAGTGCCCTTGCTCAC	0.542																																					p.G91D		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G272A						PASS	.						111	115	114					6																	26056385		2203	4300	6503	SO:0001583	missense	3006	exon1			AGAGTGCCCTTGC	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.272G>A	6.37:g.26056385C>T	ENSP00000339566:p.Gly91Asp	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	188	87	0.462766	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696243	0.68386	.	.	ENSG00000187837	ENST00000343677	T	0.59083	0.29	5.63	5.63	0.86233	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000006	T	0.79902	0.4526	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83425	0.0035	10	0.87932	D	0	-22.419	19.032	0.92961	0.0:1.0:0.0:0.0	.	91	P16403	H12_HUMAN	D	91	ENSP00000339566:G91D	ENSP00000339566:G91D	G	-	2	0	HIST1H1C	26164364	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	5.879000	0.69690	2.814000	0.96858	0.655000	0.94253	GGC	.	.	none		0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056385	C	T	26056385	3	4	10	1	0	0	0	0	1	0	0	0	7124	739	26	2	373	2	HIST1H1C	6	26056385	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	12660	26056385	145058682	140	1980										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056488	26056488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttcagagcagccagagaaaCtccgctacgctctttagagg	10	11	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:26056488C>T	ENST00000343677.2	-	1	211	c.169G>A	c.(169-171)Gtt>Att	p.V57I		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	57	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCCAGAGAAACTCCGCTACGC	0.572																																					p.V57I		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G169A						PASS	.						74	83	80					6																	26056488		2203	4300	6503	SO:0001583	missense	3006	exon1			GAGAAACTCCGCT	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.169G>A	6.37:g.26056488C>T	ENSP00000339566:p.Val57Ile	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	144	61	0.423611	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681630	0.47991	.	.	ENSG00000187837	ENST00000343677	T	0.21932	1.98	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.135447	0.48286	D	0.000194	T	0.25195	0.0612	M	0.87682	2.9	0.58432	D	0.999992	B	0.32968	0.392	B	0.37989	0.262	T	0.02477	-1.1153	10	0.42905	T	0.14	-28.79	15.5188	0.75846	0.0:0.8523:0.1477:0.0	.	57	P16403	H12_HUMAN	I	57	ENSP00000339566:V57I	ENSP00000339566:V57I	V	-	1	0	HIST1H1C	26164467	0.879000	0.30193	0.960000	0.40013	0.011000	0.07611	1.731000	0.38135	2.861000	0.98227	0.655000	0.94253	GTT	.	.	none		0.572	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056488	C	T	26056488	3	4	10	1	0	0	0	0	1	0	0	0	7124	565	20	2	476	2	HIST1H1C	6	26056488	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	103	26056488	145058579	141	1981										
HIST1H2BM	8342	hgsc.bcm.edu	37	chr6	27783062	27783062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcgccggagaagcgtcacgcCtggcgcattacaacaagcgc	12	14	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:27783062C>T	ENST00000359465.4	+	1	241	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	81					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AGCGTCACGCCTGGCGCATTA	0.597																																					p.L81L		Atlas-SNP	.											HIST1H2BM,NS,carcinoma,0,2	HIST1H2BM	36	2	0			c.C241T						scavenged	.						109	101	104					6																	27783062		2203	4300	6503	SO:0001819	synonymous_variant	8342	exon1			TCACGCCTGGCGC	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.241C>T	6.37:g.27783062C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	116	2	0.0172414	NM_003521	Q6NWQ3	Silent	SNP	ENST00000359465.4	37	CCDS4629.1																																																																																			.	.	none		0.597	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		T	27783062	C	T	27783062	2	4	10	1	0	0	0	0	0	0	0	1	7152	680	24	2		2	HIST1H2BM	6	27783062	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1726574	27783062	143332005	142	1982										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238930	31238930	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgccctccaggtaggctctcAgctgctccgccgcacgggcc	12	18	1	0	rs79636386	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:31238930A>T	ENST00000376228.5	-	3	553	c.539T>A	c.(538-540)cTg>cAg	p.L180Q	HLA-C_ENST00000383329.3_Missense_Mutation_p.L180Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	180	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTAGGCTCTCAGCTGCTCCGC	0.687																																					p.L180Q		Atlas-SNP	.											HLA-C_ENST00000383329,NS,carcinoma,0,2	HLA-C	92	2	0			c.T539A						scavenged	.						44	31	35					6																	31238930		2196	4292	6488	SO:0001583	missense	3107	exon3			GCTCTCAGCTGCT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.539T>A	6.37:g.31238930A>T	ENSP00000365402:p.Leu180Gln	Somatic	278	5	0.0179856		WXS	Illumina HiSeq	Phase_I	210	7	0.0333333	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	0.527	-0.859406	0.02610	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00010	9.42;9.42	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	115.764000	0.00166	U	0.000008	T	0.00012	0.0000	N	0.11284	0.12	0.09310	N	1	B;B;B;B	0.30406	0.278;0.024;0.024;0.024	B;B;B;B	0.31016	0.123;0.04;0.04;0.04	T	0.35847	-0.9772	10	0.23302	T	0.38	.	0.7503	0.00989	0.3702:0.2557:0.1128:0.2613	rs2308592;rs9264655;rs17839942;rs28367578	180;180;180;180	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	Q	180;180;180;217	ENSP00000365402:L180Q;ENSP00000372819:L180Q	ENSP00000365402:L180Q	L	-	2	0	HLA-C	31346909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.015000	0.00160	-3.815000	0.00103	-3.321000	0.00044	CTG	T|0.001;C|0.301;A|0.698	0.001	weak		0.687	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31238930	A	T	31238930	3	4	10	1	0	0	0	0	1	0	0	0	7197	188	7	5	585	5	HLA-C	6	31238930	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	3455868	31238930	139876137	143	1983										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31322910	31322910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcttcctcctacacatcacaGcagcgaccacagctccgatg	6	17	2	0	rs74189305		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:31322910G>A	ENST00000412585.2	-	5	1014	c.986C>T	c.(985-987)gCt>gTt	p.A329V		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	329			A -> T (in dbSNP:rs1051488).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.A329V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACACATCACAGCAGCGACCAC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.A329V		Atlas-SNP	.											HLA-B,NS,carcinoma,-1,7	HLA-B	54	7	4	Substitution - Missense(4)	kidney(4)	c.C986T						scavenged	.						102	101	101					6																	31322910		1511	2709	4220	SO:0001583	missense	3106	exon5	Familial Cancer Database	;Lichen Sclerosis, Familial	ATCACAGCAGCGA	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.986C>T	6.37:g.31322910G>A	ENSP00000399168:p.Ala329Val	Somatic	166	2	0.0120482		WXS	Illumina HiSeq	Phase_I	186	7	0.0376344	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	9.051	0.992087	0.18966	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00622	6.16	3.73	-3.02	0.05446	.	.	.	.	.	T	0.00109	0.0003	N	0.00729	-1.24	0.09310	N	1	B	0.20052	0.041	B	0.29077	0.098	T	0.22906	-1.0203	9	0.49607	T	0.09	.	5.2273	0.15401	0.4363:0.3516:0.2121:0.0	.	329	P01889	1B07_HUMAN	V	329;208	ENSP00000399168:A329V	ENSP00000399168:A329V	A	-	2	0	HLA-B	31430889	0.000000	0.05858	0.128000	0.21923	0.021000	0.10359	0.033000	0.13754	-0.241000	0.09681	0.448000	0.29417	GCT	.	.	weak		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31322910	G	A	31322910	3	1	10	1	0	0	0	0	1	0	0	0	7196	971	34	2	114	2	HLA-B	6	31322910	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	83980	31322910	139792157	144	1984										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34803143	34803144	+	Frame_Shift_Ins	INS	-	-	CACA													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctctgggtgctgactgactINScacagctcaaggctatgatg							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:34803143_34803144insCACA	ENST00000192788.5	+	7	913_914	c.742_743insCACA	c.(742-744)tcafs	p.-248fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.-248fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1								histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTGACTGACTCACAGCTCAAG	0.505																																					p.S248fs		Atlas-Indel	.											.	UHRF1BP1	102	.	0			c.742_743insCACA						PASS	.																																			SO:0001589	frameshift_variant	54887	exon7			.	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.743_746dupCACA	6.37:g.34803144_34803147dupCACA	ENSP00000192788:p.Ser248fs	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	120	18	0.15	NM_017754	Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	CCDS43455.1																																																																																			.	.	none		0.505	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		CACA	34803144	-	CACA	34803143	7	5	10	1	0	1	1	0	0	0	0	0	16965	1551	54	0	768	0	UHRF1BP1	6	34803143	Frame_Shift_Ins	INS	-	TCGA-FF-8041-01A-11D-2210-10	3480233	34803143	136311924	145	1985										
KIAA0240	23506	hgsc.bcm.edu	37	chr6	42797411	42797411	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcatgtcatgttgaacagaaActcttccaacatgctcagga	8	10	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:42797411A>T	ENST00000314073.5	+	6	1516	c.1340A>T	c.(1339-1341)aAc>aTc	p.N447I	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.N447I			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	447																	TTGAACAGAAACTCTTCCAAC	0.478																																					p.N447I		Atlas-SNP	.											KIAA0240,NS,carcinoma,-1,1	.	.	1	0			c.A1340T						PASS	.						179	175	177					6																	42797411		2203	4300	6503	SO:0001583	missense	23506	exon5			ACAGAAACTCTTC	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1340A>T	6.37:g.42797411A>T	ENSP00000313933:p.Asn447Ile	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_015349	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424540	0.43020	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.48836	0.8;0.8	5.87	0.737	0.18314	.	0.368457	0.28730	N	0.014329	T	0.18635	0.0447	L	0.44542	1.39	0.40580	D	0.981383	B;P;P	0.40834	0.226;0.631;0.73	B;B;B	0.37304	0.176;0.165;0.246	T	0.02391	-1.1166	10	0.41790	T	0.15	-5.3689	6.926	0.24416	0.6928:0.1162:0.191:0.0	.	447;447;447	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	I	447	ENSP00000313933:N447I;ENSP00000377723:N447I	ENSP00000313933:N447I	N	+	2	0	KIAA0240	42905389	0.975000	0.34042	0.824000	0.32777	0.974000	0.67602	1.117000	0.31234	0.190000	0.20209	0.533000	0.62120	AAC	.	.	none		0.478	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		T	42797411	A	T	42797411	3	4	10	1	0	0	0	0	1	0	0	0	8164	43	2	5	1354	5	KIAA0240	6	42797411	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	7994268	42797411	128317656	146	1986										
BMP5	653	hgsc.bcm.edu	37	chr6	55659189	55659189	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caacccacatctaaagcttgGgcctttcttgtgtctaacaa	6	12	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:55659189G>T	ENST00000370830.3	-	3	1418	c.720C>A	c.(718-720)gcC>gcA	p.A240A	BMP5_ENST00000446683.2_Silent_p.A240A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	240					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTAAAGCTTGGGCCTTTCTTG	0.383																																					p.A240A		Atlas-SNP	.											.	BMP5	94	.	0			c.C720A						PASS	.						100	101	101					6																	55659189		2203	4300	6503	SO:0001819	synonymous_variant	653	exon3			AGCTTGGGCCTTT		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.720C>A	6.37:g.55659189G>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	52	9	0.173077	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	CCDS4958.1																																																																																			.	.	none		0.383	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55659189	G	T	55659189	2	4	10	1	0	0	0	0	0	0	0	1	1463	1219	43	4		4	BMP5	6	55659189	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12861778	55659189	115455878	147	1987										
EYS	346007	hgsc.bcm.edu	37	chr6	65300359	65300359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agacgtctgtattgaaagtgCtggagttgctgaaactgtat	12	5	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:65300359C>G	ENST00000370621.3	-	26	5927	c.5401G>C	c.(5401-5403)Gca>Cca	p.A1801P	EYS_ENST00000503581.1_Missense_Mutation_p.A1801P|EYS_ENST00000370616.2_Missense_Mutation_p.A1801P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1801					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTGAAAGTGCTGGAGTTGCT	0.388																																					p.A1801P		Atlas-SNP	.											.	EYS	527	.	0			c.G5401C						PASS	.						136	126	129					6																	65300359		692	1590	2282	SO:0001583	missense	346007	exon26			AAAGTGCTGGAGT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5401G>C	6.37:g.65300359C>G	ENSP00000359655:p.Ala1801Pro	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	168	46	0.27381	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	7.913	0.736998	0.15574	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84730	-1.89;-1.87;-1.87	5.87	2.14	0.27477	.	.	.	.	.	T	0.46405	0.1391	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.41466	-0.9507	9	0.66056	D	0.02	.	1.4311	0.02334	0.4143:0.259:0.21:0.1168	.	1801;1801	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	P	1801	ENSP00000424243:A1801P;ENSP00000359655:A1801P;ENSP00000359650:A1801P	ENSP00000359650:A1801P	A	-	1	0	EYS	65357080	0.000000	0.05858	0.005000	0.12908	0.036000	0.12997	-0.187000	0.09656	0.132000	0.18615	-0.467000	0.05162	GCA	.	.	none		0.388	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	65300359	C	G	65300359	3	3	10	1	0	0	0	0	1	0	0	0	5332	797	28	4	3950	4	EYS	6	65300359	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	9641170	65300359	105814708	148	1988										
TBX18	9096	hgsc.bcm.edu	37	chr6	85466570	85466570	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tacctgccaccatccatttcGaactgtggtaaacataccta	5	13	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:85466570G>T	ENST00000369663.5	-	4	954	c.617C>A	c.(616-618)tCg>tAg	p.S206*	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Nonsense_Mutation_p.S48*	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	206					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S206L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CATCCATTTCGAACTGTGGTA	0.488																																					p.S206X		Atlas-SNP	.											TBX18,colon,carcinoma,+1,4	TBX18	131	4	1	Substitution - Missense(1)	large_intestine(1)	c.C617A						scavenged	.						109	86	94					6																	85466570		2203	4300	6503	SO:0001587	stop_gained	9096	exon4			CATTTCGAACTGT	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.617C>A	6.37:g.85466570G>T	ENSP00000358677:p.Ser206*	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	150	3	0.02	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Nonsense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	38	6.666933	0.97747	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	.	.	.	6.06	6.06	0.98353	.	0.095323	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	121;206	.	ENSP00000358677:S206X	S	-	2	0	TBX18	85523289	1.000000	0.71417	0.998000	0.56505	0.043000	0.13939	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TCG	.	.	none		0.488	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		T	85466570	G	T	85466570	4	4	10	1	0	0	0	0	0	1	0	0	15650	1059	37	4	1226	4	TBX18	6	85466570	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	20166211	85466570	85648497	149	1989										
QRSL1	55278	hgsc.bcm.edu	37	chr6	107100238	107100238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaatcttaaccagatgtgtgGatgatgcagcaattgtgttg	12	5	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:107100238G>A	ENST00000369046.4	+	6	816	c.712G>A	c.(712-714)Gat>Aat	p.D238N	QRSL1_ENST00000369044.1_Missense_Mutation_p.D238N	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CAGATGTGTGGATGATGCAGC	0.383																																					p.D238N	NSCLC(192;2127 2142 11668 26277 49545)	Atlas-SNP	.											.	QRSL1	30	.	0			c.G712A						PASS	.						103	95	98					6																	107100238		2203	4300	6503	SO:0001583	missense	55278	exon6			TGTGTGGATGATG	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.712G>A	6.37:g.107100238G>A	ENSP00000358042:p.Asp238Asn	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	212	44	0.207547	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399837	0.62177	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.64260	0.56;-0.09	5.93	5.93	0.95920	.	0.262307	0.42548	D	0.000688	T	0.57227	0.2039	M	0.71581	2.175	0.45172	D	0.998186	B;B	0.21821	0.02;0.061	B;B	0.27608	0.071;0.081	T	0.55068	-0.8198	10	0.46703	T	0.11	-19.3649	20.3495	0.98807	0.0:0.0:1.0:0.0	.	238;238	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	N	238	ENSP00000358042:D238N;ENSP00000358040:D238N	ENSP00000358040:D238N	D	+	1	0	QRSL1	107206931	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.726000	0.47302	2.814000	0.96858	0.591000	0.81541	GAT	.	.	none		0.383	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		A	107100238	G	A	107100238	3	1	10	1	0	0	0	0	1	0	0	0	12881	1174	41	2	734	2	QRSL1	6	107100238	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	21633668	107100238	64014829	150	1990										
SCML4	256380	hgsc.bcm.edu	37	chr6	108070921	108070921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggggccgccaagctggggaCcgtggctgcgtcctgaggga	19	11	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:108070921C>T	ENST00000369020.3	-	3	498	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	SCML4_ENST00000369021.3_Missense_Mutation_p.V56I|SCML4_ENST00000369022.2_Missense_Mutation_p.V27I	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AAGCTGGGGACCGTGGCTGCG	0.592																																					p.V85I		Atlas-SNP	.											.	SCML4	65	.	0			c.G253A						PASS	.						73	77	76					6																	108070921		2203	4300	6503	SO:0001583	missense	256380	exon3			TGGGGACCGTGGC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.253G>A	6.37:g.108070921C>T	ENSP00000358016:p.Val85Ile	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	106	42	0.396226	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495425	0.04291	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.42513	0.98;0.99;0.98;0.97	5.15	-4.99	0.03010	.	0.692695	0.12891	N	0.430560	T	0.07954	0.0199	N	0.17872	0.535	0.09310	N	1	B;B;B	0.12630	0.001;0.0;0.006	B;B;B	0.11329	0.002;0.001;0.006	T	0.48896	-0.8994	10	0.02654	T	1	.	17.2554	0.87055	0.0:0.7296:0.0:0.2704	.	85;85;56	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	I	27;85;56;56	ENSP00000358018:V27I;ENSP00000358016:V85I;ENSP00000358017:V56I;ENSP00000404688:V56I	ENSP00000358016:V85I	V	-	1	0	SCML4	108177614	0.000000	0.05858	0.000000	0.03702	0.684000	0.39900	-1.014000	0.03641	-0.689000	0.05149	0.655000	0.94253	GTC	.	.	none		0.592	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108070921	C	T	108070921	3	4	10	1	0	0	0	0	1	0	0	0	13911	507	18	2	1015	2	SCML4	6	108070921	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	970683	108070921	63044146	151	1991										
SLC35F1	222553	hgsc.bcm.edu	37	chr6	118596682	118596682	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agccacactctatggtatttCtaacgtctgggaagaataca	8	9	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:118596682C>T	ENST00000360388.4	+	5	899	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	233					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TATGGTATTTCTAACGTCTGG	0.448																																					p.S233F		Atlas-SNP	.											SLC35F1,NS,carcinoma,0,1	SLC35F1	65	1	0			c.C698T						scavenged	.						107	107	107					6																	118596682		2203	4300	6503	SO:0001583	missense	222553	exon5			GTATTTCTAACGT	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.698C>T	6.37:g.118596682C>T	ENSP00000353557:p.Ser233Phe	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	133	2	0.0150376	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882251	0.91740	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79827	-0.1639	9	0.39692	T	0.17	.	19.2178	0.93785	0.0:1.0:0.0:0.0	.	233	Q5T1Q4	S35F1_HUMAN	F	233	.	ENSP00000353557:S233F	S	+	2	0	SLC35F1	118703375	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.239000	0.78182	2.836000	0.97738	0.655000	0.94253	TCT	.	.	none		0.448	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		T	118596682	C	T	118596682	3	4	10	1	0	0	0	0	1	0	0	0	14588	913	32	2	716	2	SLC35F1	6	118596682	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	10525761	118596682	52518385	152	1992										
NKAIN2	154215	hgsc.bcm.edu	37	chr6	124676480	124676480	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgcttctatttggaggctgGggacctctcaaaggtaattt	11	8	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:124676480G>C	ENST00000368417.1	+	3	320	c.260G>C	c.(259-261)gGg>gCg	p.G87A	NKAIN2_ENST00000546092.1_Missense_Mutation_p.G87A|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Missense_Mutation_p.G72A|NKAIN2_ENST00000368416.1_Missense_Mutation_p.G87A	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTGGAGGCTGGGGACCTCTCA	0.423																																					p.G87A		Atlas-SNP	.											.	NKAIN2	34	.	0			c.G260C						PASS	.						246	223	231					6																	124676480		2203	4300	6503	SO:0001583	missense	154215	exon3			AGGCTGGGGACCT	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.260G>C	6.37:g.124676480G>C	ENSP00000357402:p.Gly87Ala	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	234	116	0.495726	NM_153355	Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094672	0.56075	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.74	4.86	0.63082	.	0.382836	0.29100	N	0.013152	T	0.30727	0.0774	M	0.80746	2.51	0.54753	D	0.999985	B;B;B;P	0.38473	0.082;0.452;0.294;0.633	B;B;B;B	0.36289	0.088;0.211;0.132;0.221	T	0.35276	-0.9795	10	0.59425	D	0.04	0.1499	16.0861	0.81049	0.0:0.0:0.8649:0.1351	.	87;86;87;87	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	A	87;87;87;86;72	ENSP00000357401:G87A;ENSP00000357402:G87A;ENSP00000440287:G87A;ENSP00000437798:G72A	ENSP00000357401:G87A	G	+	2	0	NKAIN2	124718179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.421000	0.90259	1.410000	0.46936	0.650000	0.86243	GGG	.	.	none		0.423	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		C	124676480	G	C	124676480	3	2	10	1	0	0	0	0	1	0	0	0	10436	1232	43	4	270	4	NKAIN2	6	124676480	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6079798	124676480	46438587	153	1993										
ALDH8A1	64577	hgsc.bcm.edu	37	chr6	135271176	135271176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gttttccagcatcaaaagtgCgtttgttccagccatagcaa	8	10	1	0	rs150345681	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:135271176C>T	ENST00000265605.2	-	1	84	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A6T|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A6T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	6					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A6T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ATCAAAAGTGCGTTTGTTCCA	0.448													C|||	3	0.000599042	0.0	0.0	5008	,	,		19818	0.0		0.003	False		,,,				2504	0.0				p.A6T		Atlas-SNP	.											ALDH8A1,colon,carcinoma,0,1	ALDH8A1	68	1	1	Substitution - Missense(1)	large_intestine(1)	c.G16A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	103	103	103		16,16,16	0.7	0	6	dbSNP_134	103	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	58,58,58	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign,benign,benign	6/438,6/488,6/434	135271176	8,12998	2203	4300	6503	SO:0001583	missense	64577	exon1			AAAGTGCGTTTGT	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.16G>A	6.37:g.135271176C>T	ENSP00000265605:p.Ala6Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	109	5	0.0458716	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.19	2.758936	0.49468	4.54E-4	6.98E-4	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.76186	-1.0;-0.99;-1.0	6.14	0.675	0.17952	.	0.376195	0.27294	N	0.020038	T	0.30293	0.0760	N	0.17082	0.46	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.11329	0.004;0.006;0.003	T	0.31558	-0.9939	10	0.19147	T	0.46	.	7.8484	0.29440	0.0:0.5556:0.1117:0.3328	.	6;6;6	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	T	6	ENSP00000265605:A6T;ENSP00000356819:A6T;ENSP00000356821:A6T	ENSP00000265605:A6T	A	-	1	0	ALDH8A1	135312869	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.277000	0.08502	0.128000	0.18479	0.650000	0.86243	GCA	C|0.999;T|0.001	0.001	strong		0.448	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			T	135271176	C	T	135271176	3	4	10	1	0	0	0	0	1	0	0	0	505	768	27	1	1475	1	ALDH8A1	6	135271176	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	10594696	135271176	35843891	154	1994										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135358694	135358694	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcagacagtgaattattttGaatatataaagaattattcg	6	3	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:135358694G>C	ENST00000367837.5	-	4	637				HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Q301E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GAATTATTTTGAATATATAAA	0.313																																					p.Q301E		Atlas-SNP	.											.	HBS1L	75	.	0			c.C901G						PASS	.						36	32	33					6																	135358694		692	1590	2282	SO:0001627	intron_variant	10767	exon5			TATTTTGAATATA	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2016C>G	6.37:g.135358694G>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	92	38	0.413043	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	0.406	-0.915705	0.02415	.	.	ENSG00000112339	ENST00000367822	.	.	.	4.82	2.91	0.33838	.	.	.	.	.	T	0.10723	0.0262	.	.	.	0.25267	N	0.989545	B	0.28636	0.218	B	0.25291	0.059	T	0.10613	-1.0622	7	0.62326	D	0.03	.	4.5597	0.12154	0.0899:0.1409:0.6046:0.1646	.	301	Q9Y450-2	.	E	301	.	ENSP00000356796:Q301E	Q	-	1	0	HBS1L	135400387	0.001000	0.12720	0.257000	0.24404	0.077000	0.17291	0.204000	0.17335	2.382000	0.81193	0.655000	0.94253	CAA	.	.	none		0.313	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			C	135358694	G	C	135358694	1	2	10	0	1	0	0	0	0	0	0	0	6987	1299	45	4		4	HBS1L	6	135358694	Intron	SNP	G	TCGA-FF-8041-01A-11D-2210-10	87518	135358694	35756373	155	1995										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138198372	138198376	+	Frame_Shift_Del	DEL	CTCAT	CTCAT	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aggctgggaccatggcacaaCtcatctcatcaatgccgcaa					rs543150550		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	CTCAT	CTCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:138198372_138198376delCTCAT	ENST00000237289.4	+	6	1031_1035	c.965_969delCTCAT	c.(964-969)actcatfs	p.TH322fs	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	322	2 X approximate repeats.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CATGGCACAACTCATCTCATCAATG	0.454			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.322_323del	GBM(130;153 1739 22295 28918 47987)	Pindel,Atlas-Indel	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	c.964_968del						PASS	.																																			SO:0001589	frameshift_variant	7128	exon6			.	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.965_969delCTCAT	6.37:g.138198377_138198381delCTCAT	ENSP00000237289:p.Thr322fs	Somatic	91	.	.		WXS	Illumina HiSeq	Phase_I	70	33	0.471	NM_001270508	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	ENST00000237289.4	37	CCDS5187.1																																																																																			.	.	none		0.454	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			-	138198376	CTCAT	-	138198372	7	5	10	1	0	1	0	1	0	0	0	0	16271	565	20	0	983	0	TNFAIP3	6	138198372	Frame_Shift_Del	DEL	CTCAT	TCGA-FF-8041-01A-11D-2210-10	2839678	138198372	32916695	156	1996										
TIAM2	26230	hgsc.bcm.edu	37	chr6	155577707	155577707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaccttgctggactctgacGagggcagcttgagcagcggc	15	11	1	2	rs116807909	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:155577707G>A	ENST00000461783.3	+	29	5831	c.4558G>A	c.(4558-4560)Gag>Aag	p.E1520K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E1544K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1549K|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000528391.2_Missense_Mutation_p.E864K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E832K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E445K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E896K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1520K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1549K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1520					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGACTCTGACGAGGGCAGCTT	0.597													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17970	0.0		0.0	False		,,,				2504	0.0				p.E1520K		Atlas-SNP	.											.	TIAM2	161	.	0			c.G4558A						PASS	.	G	LYS/GLU,LYS/GLU,	11,4395	17.9+/-39.9	0,11,2192	35	38	37		1333,4558,	5.9	1	6	dbSNP_132	37	0,8598		0,0,4299	yes	missense,missense,utr-3	TIAM2,TFB1M	NM_001010927.2,NM_012454.3,NM_016020.3	56,56,	0,11,6491	AA,AG,GG		0.0,0.2497,0.0846	benign,benign,	445/627,1520/1702,	155577707	11,12993	2203	4299	6502	SO:0001583	missense	26230	exon26			TCTGACGAGGGCA		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4558G>A	6.37:g.155577707G>A	ENSP00000437188:p.Glu1520Lys	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	183	85	0.464481	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.40	3.615581	0.66672	0.002497	0.0	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08546	3.56;3.5;3.56;3.39;3.56;3.5;3.38;3.38;3.08	5.86	5.86	0.93980	.	0.351137	0.32357	N	0.006205	T	0.04497	0.0123	L	0.59436	1.845	0.37039	D	0.897031	P;P;P;P	0.52061	0.95;0.937;0.854;0.896	B;B;B;B	0.38296	0.154;0.27;0.27;0.139	T	0.43147	-0.9409	10	0.10377	T	0.69	.	18.3756	0.90435	0.0:0.0:1.0:0.0	.	864;1549;1544;1520	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	K	1520;1766;1549;1520;896;1544;1549;832;864;445	ENSP00000437188:E1520K;ENSP00000407746:E1549K;ENSP00000327315:E1520K;ENSP00000356142:E896K;ENSP00000353528:E1544K;ENSP00000433348:E1549K;ENSP00000407183:E832K;ENSP00000435335:E864K;ENSP00000275246:E445K	ENSP00000275246:E445K	E	+	1	0	TIAM2	155619399	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	6.868000	0.75516	2.780000	0.95670	0.585000	0.79938	GAG	G|0.998;A|0.002	0.002	strong		0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155577707	G	A	155577707	3	1	10	1	0	0	0	0	1	0	0	0	15888	1059	37	1	4652	1	TIAM2	6	155577707	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	17379335	155577707	15537360	157	1997										
GTF2H5	404672	hgsc.bcm.edu	37	chr6	158613139	158613139	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggttaatgtcctccaggagCgagtgggtgaattaatggac	14	6	0	1	rs121434364		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr6:158613139C>T	ENST00000607778.1	+	3	244	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	56					cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		CCTCCAGGAGCGAGTGGGTGA	0.403								Nucleotide excision repair (NER)																													p.R56X		Atlas-SNP	.											.	GTF2H5	1	.	0			c.C166T	GRCh37	CM041784	GTF2H5	M	rs121434364	PASS	.						104	97	99					6																	158613139		2203	4300	6503	SO:0001587	stop_gained	404672	exon3			CAGGAGCGAGTGG	AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"General transcription factors", "General transcription factor IIH complex subunits"	21157	protein-coding gene	gene with protein product	"DNA repair syndrome trichothiodystrophy group A"	608780	"chromosome 6 open reading frame 175", "trichothiodystrophy"	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.166C>T	6.37:g.158613139C>T	ENSP00000476100:p.Arg56*	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	173	87	0.50289	NM_207118	Q0P5V8	Nonsense_Mutation	SNP	ENST00000607778.1	37	CCDS5256.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150837	0.78001	.	.	ENSG00000185068	ENST00000438073	.	.	.	6.06	5.15	0.70609	.	0.056997	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-1.3438	7.5749	0.27931	0.1988:0.7139:0.0:0.0873	.	.	.	.	X	56	.	ENSP00000415032:R56X	R	+	1	2	GTF2H5	158533127	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.192000	0.50989	1.482000	0.48325	-0.355000	0.07637	CGA	.	.	weak		0.403	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042865.2	NM_207118		T	158613139	C	T	158613139	4	4	10	1	0	0	0	0	0	1	0	0	6866	760	27	1	172	1	GTF2H5	6	158613139	Nonsense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3035432	158613139	12501928	158	1998										
CARD11	84433	hgsc.bcm.edu	37	chr7	2976756	2976756	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctcccgccgcaccatctcgAtcctcatctcgtcgttcttc	5	20	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:2976756A>C	ENST00000396946.4	-	9	1659	c.1256T>G	c.(1255-1257)aTc>aGc	p.I419S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	419					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCATCTCGATCCTCATCTC	0.592			Mis		DLBCL																																p.I419S		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11	339	.	0			c.T1256G						PASS	.						165	133	144					7																	2976756		2203	4300	6503	SO:0001583	missense	84433	exon9			ATCTCGATCCTCA	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1256T>G	7.37:g.2976756A>C	ENSP00000380150:p.Ile419Ser	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	148	63	0.425676	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	9.722	1.159872	0.21454	.	.	ENSG00000198286	ENST00000396946	T	0.31510	1.49	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.19112	0.55	0.80722	D	1	B	0.19331	0.035	B	0.20384	0.029	T	0.03608	-1.1020	10	0.38643	T	0.18	-22.9658	14.2746	0.66173	1.0:0.0:0.0:0.0	.	419	Q9BXL7	CAR11_HUMAN	S	419	ENSP00000380150:I419S	ENSP00000380150:I419S	I	-	2	0	CARD11	2943282	1.000000	0.71417	0.252000	0.24328	0.976000	0.68499	7.318000	0.79029	1.981000	0.57761	0.459000	0.35465	ATC	.	.	none		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2976756	A	C	2976756	3	2	10	1	0	0	0	0	1	0	0	0	2645	333	12	5	2276	5	CARD11	7	2976756	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10		2976756	156161907	159	1999										
FOXK1	221937	hgsc.bcm.edu	37	chr7	4794917	4794917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcagctgatcgtgcaggccaTctcctccgcccaggaccggc	12	17	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:4794917T>C	ENST00000328914.4	+	4	953	c.953T>C	c.(952-954)aTc>aCc	p.I318T	FOXK1_ENST00000446823.1_Missense_Mutation_p.I155T	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTGCAGGCCATCTCCTCCGCC	0.627																																					p.I318T		Atlas-SNP	.											KIAA0415_ENST00000450194,NS,carcinoma,-1,2	FOXK1	64	2	0			c.T953C						scavenged	.						69	60	63					7																	4794917		2203	4300	6503	SO:0001583	missense	221937	exon4			AGGCCATCTCCTC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.953T>C	7.37:g.4794917T>C	ENSP00000328720:p.Ile318Thr	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807145	0.90623	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97232	-4.3;-4.3	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.96805	3.885	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.91635	0.999;0.957	D	0.99429	1.0935	10	0.87932	D	0	.	14.5447	0.68020	0.0:0.0:0.0:1.0	.	318;155	P85037;P85037-2	FOXK1_HUMAN;.	T	155;82;318;201	ENSP00000394442:I155T;ENSP00000328720:I318T	ENSP00000328720:I318T	I	+	2	0	FOXK1	4761443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.033000	0.88852	2.026000	0.59711	0.533000	0.62120	ATC	.	.	none		0.627	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			C	4794917	T	C	4794917	3	2	10	1	0	0	0	0	1	0	0	0	6014	1435	50	2	967	2	FOXK1	7	4794917	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1818161	4794917	154343746	160	2000										
ACTB	60	hgsc.bcm.edu	37	chr7	5568917	5568917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccagattttctccatgtcgtCccagttggtgacgatgccgt	10	12	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:5568917C>T	ENST00000331789.5	-	3	429	c.238G>A	c.(238-240)Gac>Aac	p.D80N	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	80					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TCCATGTCGTCCCAGTTGGTG	0.602																																					p.D80N		Atlas-SNP	.											.	ACTB	45	.	0			c.G238A						PASS	.						70	70	70					7																	5568917		2203	4300	6503	SO:0001583	missense	60	exon3			TGTCGTCCCAGTT	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.238G>A	7.37:g.5568917C>T	ENSP00000349960:p.Asp80Asn	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	108	24	0.222222	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788988	0.70337	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000005	D	0.95306	0.8477	M	0.81112	2.525	0.52501	D	0.99995	B	0.02656	0.0	B	0.21917	0.037	D	0.93780	0.7083	10	0.87932	D	0	.	15.8267	0.78711	0.0:1.0:0.0:0.0	.	80	P60709	ACTB_HUMAN	N	80;80;52;80;80;83;80	ENSP00000349960:D80N;ENSP00000407473:D80N;ENSP00000393951:D80N;ENSP00000399487:D83N;ENSP00000401032:D80N	ENSP00000349960:D80N	D	-	1	0	ACTB	5535443	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.600000	0.82769	2.312000	0.78011	0.563000	0.77884	GAC	.	.	none		0.602	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		T	5568917	C	T	5568917	3	4	10	1	0	0	0	0	1	0	0	0	193	855	30	2	905	2	ACTB	7	5568917	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	774000	5568917	153569746	161	2001										
SP8	221833	hgsc.bcm.edu	37	chr7	20824614	20824614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaggccgagtgactcaggccCgagtaatccgagttgtagcc	13	11	1	1	rs34908430	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:20824614C>T	ENST00000361443.4	-	3	1005	c.768G>A	c.(766-768)tcG>tcA	p.S256S	SP8_ENST00000418710.2_Silent_p.S274S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	256					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GACTCAGGCCCGAGTAATCCG	0.706													c|||	1351	0.269768	0.0635	0.379	5008	,	,		12232	0.3958		0.2893	False		,,,				2504	0.3211				p.S274S		Atlas-SNP	.											.	SP8	43	.	0			c.G822A						PASS	.	C	,	317,3303		22,273,1515	5	6	5		822,768	-5.1	1	7	dbSNP_126	5	1820,5582		247,1326,2128	no	coding-synonymous,coding-synonymous	SP8	NM_182700.4,NM_198956.2	,	269,1599,3643	TT,TC,CC		24.5879,8.7569,19.3885	,	274/509,256/491	20824614	2137,8885	1810	3701	5511	SO:0001819	synonymous_variant	221833	exon2			CAGGCCCGAGTAA		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.768G>A	7.37:g.20824614C>T		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	9	5	0.555556	NM_182700	Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																			C|0.738;T|0.262	0.262	strong		0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			T	20824614	C	T	20824614	2	4	10	1	0	0	0	0	0	0	0	1	14970	639	23	1		1	SP8	7	20824614	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	15255697	20824614	138314049	162	2002										
SCRN1	9805	hgsc.bcm.edu	37	chr7	30008595	30008595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttgcacttcatctctgggcCgggctgaatttttcccaaat	8	12	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:30008595C>T	ENST00000426154.1	-	2	265	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SCRN1_ENST00000425819.2_Intron|SCRN1_ENST00000409570.1_Missense_Mutation_p.R30Q|SCRN1_ENST00000409497.1_Missense_Mutation_p.R30Q|SCRN1_ENST00000242059.5_Missense_Mutation_p.R30Q|SCRN1_ENST00000434476.2_Missense_Mutation_p.R50Q|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	30					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ATCTCTGGGCCGGGCTGAATT	0.517																																					p.R50Q		Atlas-SNP	.											SCRN1,colon,carcinoma,+1,1	SCRN1	85	1	0			c.G149A						scavenged	.						122	99	107					7																	30008595		2203	4300	6503	SO:0001583	missense	9805	exon2			CTGGGCCGGGCTG	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.89G>A	7.37:g.30008595C>T	ENSP00000409068:p.Arg30Gln	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	142	5	0.0352113	NM_001145514	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527702	0.96446	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.38560	2.77;2.77;2.77;2.86;1.95;1.19;1.13	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.76104	0.3941	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83439	0.0042	9	.	.	.	-16.8326	18.2365	0.89951	0.0:1.0:0.0:0.0	.	50;30	C9JPG0;Q12765	.;SCRN1_HUMAN	Q	30;30;30;50;30;30;30	ENSP00000242059:R30Q;ENSP00000409068:R30Q;ENSP00000386872:R30Q;ENSP00000388942:R50Q;ENSP00000413184:R30Q;ENSP00000406289:R30Q;ENSP00000387052:R30Q	.	R	-	2	0	SCRN1	29975120	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	7.056000	0.76662	2.647000	0.89833	0.555000	0.69702	CGG	.	.	none		0.517	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		T	30008595	C	T	30008595	3	4	10	1	0	0	0	0	1	0	0	0	13938	652	23	1	1183	1	SCRN1	7	30008595	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	9183981	30008595	129130068	163	2003										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48314897	48314897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccatgttcaaatgaaagctcCcgaatggaaataactaggaa	8	8	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:48314897C>T	ENST00000435803.1	+	17	5658	c.5634C>T	c.(5632-5634)tcC>tcT	p.S1878S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1878					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						ATGAAAGCTCCCGAATGGAAA	0.408																																					p.S1878S		Atlas-SNP	.											.	ABCA13	1192	.	0			c.C5634T						PASS	.						60	61	61					7																	48314897		1824	4073	5897	SO:0001819	synonymous_variant	154664	exon17			AAGCTCCCGAATG	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.5634C>T	7.37:g.48314897C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	138	26	0.188406	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.	.	none		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48314897	C	T	48314897	2	4	10	1	0	0	0	0	0	0	0	1	31	610	22	2		2	ABCA13	7	48314897	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	18306302	48314897	110823766	164	2004										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103673	53103673	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggaggcgccctgcccttccCggggagaccgctctggggcg	17	15	1	1	rs1184320	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:53103673C>A	ENST00000408890.4	+	1	325	c.309C>A	c.(307-309)ccC>ccA	p.P103P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	103										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCCCTTCCCGGGGAGACCG	0.726													C|||	2433	0.485823	0.4682	0.3444	5008	,	,		13024	0.5992		0.3688	False		,,,				2504	0.6135				p.P103P		Atlas-SNP	.											.	POM121L12	146	.	0			c.C309A						PASS	.	C		1694,2198		379,936,631	20	24	22		309	-1.2	0	7	dbSNP_87	22	2863,5365		484,1895,1735	no	coding-synonymous	POM121L12	NM_182595.3		863,2831,2366	AA,AC,CC		34.7958,43.5252,37.599		103/297	53103673	4557,7563	1946	4114	6060	SO:0001819	synonymous_variant	285877	exon1			CCTTCCCGGGGAG		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.309C>A	7.37:g.53103673C>A		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	15	8	0.533333	NM_182595	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			C|0.563;A|0.437	0.437	strong		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103673	C	A	53103673	2	1	10	1	0	0	0	0	0	0	0	1	12241	639	23	4		4	POM121L12	7	53103673	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4788776	53103673	106034990	165	2005										
TYW1	55253	hgsc.bcm.edu	37	chr7	66548448	66548448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	accccgtgggcactgagtggCggtggaagatggaccagcct	16	11	0	2	rs116676724	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:66548448C>T	ENST00000359626.5	+	11	1470	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	436					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CACTGAGTGGCGGTGGAAGAT	0.428													c|||	196	0.0391374	0.1422	0.0115	5008	,	,		19182	0.0		0.0	False		,,,				2504	0.0				p.R436W		Atlas-SNP	.											TYW1,NS,carcinoma,-2,1	TYW1	71	1	0			c.C1306T						scavenged	.	C	TRP/ARG	481,3925	226.5+/-242.0	33,415,1755	92	90	91		1306	3.7	1	7	dbSNP_132	91	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TYW1	NM_018264.2	101	33,420,6050	TT,TC,CC		0.0581,10.9169,3.7367	benign	436/733	66548448	486,12520	2203	4300	6503	SO:0001583	missense	55253	exon11			GAGTGGCGGTGGA	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1306C>T	7.37:g.66548448C>T	ENSP00000352645:p.Arg436Trp	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	146	3	0.0205479	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	86	0.039377289377289376	81	0.16463414634146342	3	0.008287292817679558	0	0.0	2	0.002638522427440633	C	16.76	3.213635	0.58452	0.109169	5.81E-4	ENSG00000198874	ENST00000359626	D	0.92099	-2.97	4.62	3.72	0.42706	Radical SAM (1);	0.000000	0.64402	U	0.000001	T	0.04227	0.0117	M	0.85197	2.74	0.09310	P	0.999999061496	B	0.27286	0.174	B	0.29598	0.104	T	0.62859	-0.6765	9	0.72032	D	0.01	.	10.1835	0.42984	0.3613:0.6387:0.0:0.0	.	436	Q9NV66	TYW1_HUMAN	W	436	ENSP00000352645:R436W	ENSP00000352645:R436W	R	+	1	2	TYW1	66185883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.571000	0.45990	1.039000	0.40074	0.603000	0.83216	CGG	.	.	weak		0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66548448	C	T	66548448	3	4	10	1	0	0	0	0	1	0	0	0	16815	759	27	1	1348	1	TYW1	7	66548448	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13444775	66548448	92590215	166	2006										
CCDC146	57639	hgsc.bcm.edu	37	chr7	76908080	76908080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acatttcagcaaaaatacacCaacattgttaaagaaatgaa	4	7	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:76908080C>T	ENST00000285871.4	+	12	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	CCDC146_ENST00000431197.1_Silent_p.T198T|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	484								p.T484T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAAATACACCAACATTGTTA	0.299																																					p.T484T		Atlas-SNP	.											CCDC146,NS,carcinoma,0,1	CCDC146	87	1	1	Substitution - coding silent(1)	kidney(1)	c.C1452T						scavenged	.						66	63	64					7																	76908080		2202	4298	6500	SO:0001819	synonymous_variant	57639	exon12			ATACACCAACATT	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1452C>T	7.37:g.76908080C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	107	2	0.0186916	NM_020879	A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																			.	.	none		0.299	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76908080	C	T	76908080	2	4	10	1	0	0	0	0	0	0	0	1	2780	581	21	2		2	CCDC146	7	76908080	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	10359632	76908080	82230583	167	2007										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88966043	88966043	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttcagtcctatttcattttcGactctgactccaaccattat	3	12	3	1	rs371801451		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:88966043G>T	ENST00000333190.4	+	4	4356	c.3747G>T	c.(3745-3747)tcG>tcT	p.S1249S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCATTTTCGACTCTGACTC	0.458										HNSCC(36;0.09)																											p.S1249S		Atlas-SNP	.											ZNF804B,bladder,carcinoma,+1,2	ZNF804B	322	2	0			c.G3747T						scavenged	.						216	181	193					7																	88966043		2203	4300	6503	SO:0001819	synonymous_variant	219578	exon4			ATTTTCGACTCTG	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3747G>T	7.37:g.88966043G>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	145	2	0.0137931	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																			.	.	alt		0.458	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88966043	G	T	88966043	2	4	10	1	0	0	0	0	0	0	0	1	18168	1045	37	4		4	ZNF804B	7	88966043	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12057963	88966043	70172620	168	2008										
SGCE	8910	hgsc.bcm.edu	37	chr7	94218023	94218023	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtagtctgctgttggggaatCtgagtctgatgtggcaagtt	15	5	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:94218023C>T	ENST00000265735.7	-	10	1385	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	SGCE_ENST00000445866.2_Silent_p.Q450Q|SGCE_ENST00000428696.2_Silent_p.Q416Q|SGCE_ENST00000415788.2_Silent_p.Q461Q|SGCE_ENST00000447873.1_Silent_p.Q416Q|SGCE_ENST00000437425.2_Silent_p.Q384Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	425					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGGGGAATCTGAGTCTGAT	0.308																																					p.Q450Q		Atlas-SNP	.											.	SGCE	68	.	0			c.G1350A						PASS	.						130	129	130					7																	94218023		2203	4300	6503	SO:0001819	synonymous_variant	8910	exon11			GGGAATCTGAGTC	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1275G>A	7.37:g.94218023C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_001099401	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	ENST00000265735.7	37	CCDS5637.1																																																																																			.	.	none		0.308	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			T	94218023	C	T	94218023	2	4	10	1	0	0	0	0	0	0	0	1	14202	912	32	2		2	SGCE	7	94218023	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5251980	94218023	64920640	169	2009										
PON3	5446	hgsc.bcm.edu	37	chr7	95025645	95025645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccgacccccagcaggaccagCgccacgagcttccccatggt	10	19	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:95025645C>T	ENST00000265627.5	-	1	28	c.18G>A	c.(16-18)gcG>gcA	p.A6A	PON3_ENST00000475439.1_5'Flank|PON3_ENST00000451904.1_Silent_p.A6A|PON1_ENST00000542556.1_Silent_p.A6A|PON3_ENST00000427422.1_Silent_p.A6A	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	6					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GCAGGACCAGCGCCACGAGCT	0.672																																					p.A6A		Atlas-SNP	.											PON3,NS,carcinoma,-1,1	PON3	59	1	0			c.G18A						PASS	.						97	87	91					7																	95025645		2203	4300	6503	SO:0001819	synonymous_variant	5446	exon1			GACCAGCGCCACG	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.18G>A	7.37:g.95025645C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	47	9	0.191489	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	CCDS5639.1																																																																																			.	.	none		0.672	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		T	95025645	C	T	95025645	2	4	10	1	0	0	0	0	0	0	0	1	12250	755	27	1		1	PON3	7	95025645	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	807622	95025645	64113018	170	2010										
ACN9	57001	hgsc.bcm.edu	37	chr7	96810429	96810429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagaaaaacttaatgactttCgtgatgaacaaattggacag	8	5	0	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:96810429C>T	ENST00000432641.2	+	2	1414	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TAATGACTTTCGTGATGAACA	0.388																																					p.R94C		Atlas-SNP	.											ACN9,NS,malignant_melanoma,0,1	ACN9	19	1	0			c.C280T						scavenged	.						71	73	73					7																	96810429		2203	4300	6503	SO:0001583	missense	57001	exon2			GACTTTCGTGATG	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.280C>T	7.37:g.96810429C>T	ENSP00000414066:p.Arg94Cys	Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	365	4	0.0109589	NM_020186		Missense_Mutation	SNP	ENST00000432641.2	37	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446155	0.43429	.	.	ENSG00000196636	ENST00000432641	.	.	.	5.13	2.97	0.34412	.	0.202544	0.46145	D	0.000320	T	0.47764	0.1463	L	0.46157	1.445	0.80722	D	1	B	0.22346	0.068	B	0.17722	0.019	T	0.50923	-0.8770	9	0.62326	D	0.03	-2.2131	9.6707	0.40011	0.4515:0.5485:0.0:0.0	.	94	Q9NRP4	ACN9_HUMAN	C	94	.	ENSP00000414066:R94C	R	+	1	0	ACN9	96648365	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.201000	0.51059	1.249000	0.43950	0.591000	0.81541	CGT	.	.	none		0.388	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186		T	96810429	C	T	96810429	3	4	10	1	0	0	0	0	1	0	0	0	145	884	31	1	286	1	ACN9	7	96810429	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1784784	96810429	62328234	171	2011										
CUX1	1523	hgsc.bcm.edu	37	chr7	101845432	101845432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	catcgagctcacccggcaggTtaaggaaaagctggccaaga	12	11	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:101845432T>C	ENST00000292535.7	+	18	2893	c.2855T>C	c.(2854-2856)gTt>gCt	p.V952A	CUX1_ENST00000546411.2_Missense_Mutation_p.V850A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.V794A|CUX1_ENST00000550008.2_Missense_Mutation_p.V896A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.V930A|CUX1_ENST00000360264.3_Missense_Mutation_p.V963A|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	952					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACCCGGCAGGTTAAGGAAAAG	0.587																																					p.V963A		Atlas-SNP	.											.	CUX1	253	.	0			c.T2888C						PASS	.						93	99	97					7																	101845432		2203	4300	6503	SO:0001583	missense	1523	exon18			GGCAGGTTAAGGA	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2855T>C	7.37:g.101845432T>C	ENSP00000292535:p.Val952Ala	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	96	4	0.0416667	NM_001202543	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704680	0.68615	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.71461	-0.55;-0.52;-0.55;-0.57;-0.52;-0.53	5.29	5.29	0.74685	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.162599	0.40554	N	0.001077	T	0.77955	0.4208	M	0.75615	2.305	0.80722	D	1	P;D	0.55385	0.78;0.971	P;P	0.50934	0.471;0.654	T	0.81908	-0.0717	10	0.87932	D	0	-24.5424	15.2336	0.73411	0.0:0.0:0.0:1.0	.	952;963	P39880;P39880-3	CUX1_HUMAN;.	A	963;952;930;896;850;794	ENSP00000353401:V963A;ENSP00000292535:V952A;ENSP00000446630:V930A;ENSP00000447373:V896A;ENSP00000450125:V850A;ENSP00000451558:V794A	ENSP00000292535:V952A	V	+	2	0	CUX1	101632152	1.000000	0.71417	0.955000	0.39395	0.969000	0.65631	7.698000	0.84413	2.010000	0.58986	0.533000	0.62120	GTT	.	.	none		0.587	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101845432	T	C	101845432	3	2	10	1	0	0	0	0	1	0	0	0	4064	1725	60	2	2992	2	CUX1	7	101845432	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5035003	101845432	57293231	172	2012										
CHRM2	1129	hgsc.bcm.edu	37	chr7	136700095	136700095	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgggctccagccattctcttCtggcagttcattgtaggggt	12	10	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:136700095C>T	ENST00000445907.2	+	3	1011	c.483C>T	c.(481-483)ttC>ttT	p.F161F	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.F161F|CHRM2_ENST00000401861.1_Silent_p.F161F|CHRM2_ENST00000397608.3_Silent_p.F161F|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Silent_p.F161F|CHRM2_ENST00000453373.1_Silent_p.F161F|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	161					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCATTCTCTTCTGGCAGTTCA	0.512																																					p.F161F		Atlas-SNP	.											CHRM2,lower_third,carcinoma,+1,1	CHRM2	167	1	0			c.C483T						scavenged	.						93	91	92					7																	136700095		2203	4299	6502	SO:0001819	synonymous_variant	1129	exon3			TCTCTTCTGGCAG		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.483C>T	7.37:g.136700095C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	131	2	0.0152672	NM_001006632	Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	CCDS5843.1																																																																																			.	.	none		0.512	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			T	136700095	C	T	136700095	2	4	10	1	0	0	0	0	0	0	0	1	3377	912	32	2		2	CHRM2	7	136700095	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	34854663	136700095	22438568	173	2013										
KIAA1549	57670	hgsc.bcm.edu	37	chr7	138602479	138602479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atggagccgctgagttccagCgggggtgttgagaaaaagct	16	7	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:138602479C>T	ENST00000422774.1	-	2	1941	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	KIAA1549_ENST00000242365.4_Silent_p.P581P|KIAA1549_ENST00000440172.1_Silent_p.P631P			Q9HCM3	K1549_HUMAN	KIAA1549	631	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGAGTTCCAGCGGGGGTGTTG	0.502			O	BRAF	pilocytic astrocytoma																																p.P631P	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549	314	.	0			c.G1893A						PASS	.						29	33	32					7																	138602479		1899	4122	6021	SO:0001819	synonymous_variant	57670	exon2			TTCCAGCGGGGGT		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1893G>A	7.37:g.138602479C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	71	11	0.15493	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																			.	.	none		0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			T	138602479	C	T	138602479	2	4	10	1	0	0	0	0	0	0	0	1	8244	755	27	1		1	KIAA1549	7	138602479	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1902384	138602479	20536184	174	2014										
MLL3	58508	hgsc.bcm.edu	37	chr7	151896386	151896386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgagttccagattttgttggAgccgaggatgaactaagtag	13	5	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:151896386A>G	ENST00000262189.6	-	27	4469	c.4251T>C	c.(4249-4251)gcT>gcC	p.A1417A	KMT2C_ENST00000355193.2_Silent_p.A1417A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1417					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTGTTGGAGCCGAGGATG	0.333																																					p.A1417A		Atlas-SNP	.											MLL3_ENST00000355193,NS,carcinoma,-2,2	MLL3	1564	2	0			c.T4251C						scavenged	.						71	70	70					7																	151896386		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon27			TGTTGGAGCCGAG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4251T>C	7.37:g.151896386A>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	181	3	0.0165746	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			.	.	none		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151896386	A	G	151896386	2	3	10	1	0	0	0	0	0	0	0	1	9622	291	11	3		3	MLL3	7	151896386	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	13293907	151896386	7242277	175	2015										
MLL3	58508	hgsc.bcm.edu	37	chr7	151932990	151932990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtcctgcacctcgaggtctcCgctttcctggaaatccagac	9	15	1	1	rs76844681		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGAGGTCTCCGCTTTCCTGG	0.502																																					p.R894Q		Atlas-SNP	.											MLL3_ENST00000355193,NS,malignant_melanoma,+1,4	MLL3	1564	4	0			c.G2681A						scavenged	.						33	34	33					7																	151932990		2202	4295	6497	SO:0001583	missense	58508	exon16			GGTCTCCGCTTTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln	Somatic	172	3	0.0174419		WXS	Illumina HiSeq	Phase_I	170	8	0.0470588	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG	C|0.999;T|0.001	0.001	weak		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151932990	C	T	151932990	3	4	10	1	0	0	0	0	1	0	0	0	9622	652	23	1	12230	1	MLL3	7	151932990	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	36604	151932990	7205673	176	2016										
USP17L2	377630	hgsc.bcm.edu	37	chr8	11994795	11994795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actcctgatctgtccgggtcGtcgaagagaggtttagcagg	14	9	1	2	rs201012791	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:11994795G>A	ENST00000333796.3	-	1	1791	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	492	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTCCGGGTCGTCGAAGAGAG	0.512													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21462	0.0		0.001	False		,,,				2504	0.0				p.T492M		Atlas-SNP	.											.	USP17L2	47	.	0			c.C1475T						PASS	.	A	MET/THR	3,2647		1,1,1323	62	67	65		1475	-0.7	0	8		65	2,5746		0,2,2872	no	missense	USP17L2	NM_201402.2	81	1,3,4195	AA,AG,GG		0.0348,0.1132,0.0595	benign	492/531	11994795	5,8393	1325	2874	4199	SO:0001583	missense	377630	exon1			CGGGTCGTCGAAG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1475C>T	8.37:g.11994795G>A	ENSP00000333329:p.Thr492Met	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	362	96	0.265193	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565875	0.13560	0.001132	3.48E-4	ENSG00000223443	ENST00000333796	T	0.11821	2.74	0.36	-0.721	0.11189	.	1.611680	0.04297	U	0.346582	T	0.12390	0.0301	.	.	.	0.09310	N	1	D	0.57571	0.98	B	0.44044	0.439	T	0.19063	-1.0317	8	0.51188	T	0.08	.	.	.	.	.	492	Q6R6M4	U17L2_HUMAN	M	492	ENSP00000333329:T492M	ENSP00000333329:T492M	T	-	2	0	USP17L2	12032204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.296000	0.01142	-0.412000	0.07519	-0.410000	0.06199	ACG	.	.	weak		0.512	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		A	11994795	G	A	11994795	3	1	10	1	0	0	0	0	1	0	0	0	17045	1145	40	1	121	1	USP17L2	8	11994795	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10		11994795	134369227	177	2017										
PCM1	5108	hgsc.bcm.edu	37	chr8	17843569	17843569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcaaactcagaacttactccTagtgagagccttgctactac	6	12	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:17843569T>C	ENST00000519253.1	+	26	4634	c.4383T>C	c.(4381-4383)ccT>ccC	p.P1461P	PCM1_ENST00000524226.1_Silent_p.P1407P|PCM1_ENST00000327578.8_Silent_p.P160P|PCM1_ENST00000325083.8_Silent_p.P1461P			Q15154	PCM1_HUMAN	pericentriolar material 1	1461	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AACTTACTCCTAGTGAGAGCC	0.323			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																p.P1461P		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1	120	.	0			c.T4383C						PASS	.						85	82	83					8																	17843569		1842	4078	5920	SO:0001819	synonymous_variant	5108	exon26			TACTCCTAGTGAG		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4383T>C	8.37:g.17843569T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	T	9.433	1.086118	0.20390	.	.	ENSG00000078674	ENST00000522275	.	.	.	5.05	0.866	0.19079	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	-5.5681	2.3121	0.04189	0.2364:0.3965:0.2305:0.1365	.	.	.	.	P	201	.	.	L	+	2	0	PCM1	17887849	0.921000	0.31238	0.999000	0.59377	0.981000	0.71138	0.014000	0.13333	0.071000	0.16664	-0.182000	0.12963	CTA	.	.	none		0.323	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		C	17843569	T	C	17843569	2	2	10	1	0	0	0	0	0	0	0	1	11584	1509	53	3		3	PCM1	8	17843569	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5848774	17843569	128520453	178	2018										
LOXL2	4017	hgsc.bcm.edu	37	chr8	23167305	23167305	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcccgtggtggggtcggtctGcgcggctgaggccgagaggc	21	11	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:23167305G>A	ENST00000389131.3	-	10	2125	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	586	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGGTCGGTCTGCGCGGCTGAG	0.657																																					p.Q586X		Atlas-SNP	.											LOXL2,NS,malignant_melanoma,+2,2	LOXL2	97	2	0			c.C1756T						scavenged	.						41	37	38					8																	23167305		2203	4300	6503	SO:0001587	stop_gained	4017	exon10			CGGTCTGCGCGGC	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1756C>T	8.37:g.23167305G>A	ENSP00000373783:p.Gln586*	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	162	3	0.0185185	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Nonsense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397083	0.96009	.	.	ENSG00000134013	ENST00000389131	.	.	.	5.67	-0.916	0.10489	.	0.854724	0.10971	N	0.613843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	13.37	0.60707	0.0:0.098:0.2625:0.6395	.	.	.	.	X	586	.	ENSP00000373783:Q586X	Q	-	1	0	LOXL2	23223250	0.006000	0.16342	0.001000	0.08648	0.019000	0.09904	0.409000	0.21082	-0.521000	0.06426	-0.397000	0.06425	CAG	.	.	none		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			A	23167305	G	A	23167305	4	1	10	1	0	0	0	0	0	1	0	0	8900	1328	46	2	588	2	LOXL2	8	23167305	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5323736	23167305	123196717	179	2019										
SLC25A37	51312	hgsc.bcm.edu	37	chr8	23429088	23429088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcaggcgggctggccggggCcctcgccgcggccgccacga	17	18	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:23429088C>A	ENST00000519973.1	+	4	935	c.737C>A	c.(736-738)gCc>gAc	p.A246D	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	246					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CTGGCCGGGGCCCTCGCCGCG	0.652																																					p.A246D		Atlas-SNP	.											.	SLC25A37	27	.	0			c.C737A						PASS	.						25	29	28					8																	23429088		1913	4111	6024	SO:0001583	missense	51312	exon4			CCGGGGCCCTCGC	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.737C>A	8.37:g.23429088C>A	ENSP00000429200:p.Ala246Asp	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	57	32	0.561404	NM_016612	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055259	0.93793	.	.	ENSG00000147454	ENST00000519973	D	0.81821	-1.54	5.8	5.8	0.92144	Mitochondrial carrier domain (2);	0.046862	0.85682	D	0.000000	D	0.93973	0.8070	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95648	0.8704	10	0.72032	D	0.01	1.0198	18.6148	0.91299	0.0:1.0:0.0:0.0	.	246	Q9NYZ2	MFRN1_HUMAN	D	246	ENSP00000429200:A246D	ENSP00000429200:A246D	A	+	2	0	SLC25A37	23485033	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.473000	0.81007	2.740000	0.93945	0.650000	0.86243	GCC	.	.	none		0.652	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		A	23429088	C	A	23429088	3	1	10	1	0	0	0	0	1	0	0	0	14501	739	26	4	751	4	SLC25A37	8	23429088	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	261783	23429088	122934934	180	2020										
FUT10	84750	hgsc.bcm.edu	37	chr8	33246864	33246864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcattctcaaaagctaggaTaaacttatactgtgcaatga	7	7	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:33246864T>C	ENST00000327671.5	-	4	1460	c.829A>G	c.(829-831)Atc>Gtc	p.I277V	FUT10_ENST00000518672.1_Missense_Mutation_p.I249V|FUT10_ENST00000524021.1_Missense_Mutation_p.I249V|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.I215V	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	277					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AAAGCTAGGATAAACTTATAC	0.448																																					p.I277V		Atlas-SNP	.											FUT10,brain,glioma,+2,1	FUT10	62	1	0			c.A829G						scavenged	.						100	93	95					8																	33246864		2203	4300	6503	SO:0001583	missense	84750	exon4			CTAGGATAAACTT	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.829A>G	8.37:g.33246864T>C	ENSP00000332757:p.Ile277Val	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	154	2	0.012987	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	t	2.360	-0.346870	0.05208	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.22	4.06	0.47325	.	0.056930	0.64402	D	0.000002	T	0.19685	0.0473	L	0.28400	0.85	0.43857	D	0.996456	B;B;B;B;B;B	0.20261	0.043;0.002;0.008;0.003;0.016;0.009	B;B;B;B;B;B	0.25987	0.065;0.006;0.012;0.01;0.026;0.017	T	0.04017	-1.0984	10	0.52906	T	0.07	-1.3923	9.3853	0.38338	0.0:0.086:0.0:0.914	.	327;277;249;215;277;319	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	V	277;319;249;249;215	ENSP00000332757:I277V;ENSP00000430428:I249V;ENSP00000429870:I249V;ENSP00000334997:I215V	ENSP00000332757:I277V	I	-	1	0	FUT10	33366406	1.000000	0.71417	0.997000	0.53966	0.831000	0.47069	2.928000	0.48908	0.931000	0.37242	0.451000	0.29950	ATC	.	.	none		0.448	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		C	33246864	T	C	33246864	3	2	10	1	0	0	0	0	1	0	0	0	6102	1406	49	2	618	2	FUT10	8	33246864	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	9817776	33246864	113117158	181	2021										
MYST3	7994	hgsc.bcm.edu	37	chr8	41790513	41790513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgatggttgagagtagctgCcggcaccaaaatcccctgga	12	11	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:41790513C>A	ENST00000396930.3	-	18	5768	c.5225G>T	c.(5224-5226)gGc>gTc	p.G1742V	KAT6A_ENST00000265713.2_Missense_Mutation_p.G1742V|KAT6A_ENST00000406337.1_Missense_Mutation_p.G1742V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1742					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGAGTAGCTGCCGGCACCAAA	0.502																																					p.G1742V		Atlas-SNP	.											MYST3,NS,carcinoma,+1,1	.	.	1	0			c.G5225T						scavenged	.						169	170	169					8																	41790513		2203	4300	6503	SO:0001583	missense	7994	exon18			TAGCTGCCGGCAC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5225G>T	8.37:g.41790513C>A	ENSP00000380136:p.Gly1742Val	Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	148	2	0.0135135	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200043	0.38905	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.70516	-0.49;-0.49;-0.49	5.63	5.63	0.86233	.	0.220723	0.39475	N	0.001342	T	0.69088	0.3072	L	0.32530	0.975	0.80722	D	1	D	0.56521	0.976	P	0.47102	0.537	T	0.73148	-0.4074	10	0.72032	D	0.01	-8.0146	19.69	0.95996	0.0:1.0:0.0:0.0	.	1742	Q92794	KAT6A_HUMAN	V	1742	ENSP00000265713:G1742V;ENSP00000385888:G1742V;ENSP00000380136:G1742V	ENSP00000265713:G1742V	G	-	2	0	KAT6A	41909670	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.437000	0.80417	2.643000	0.89663	0.650000	0.86243	GGC	.	.	none		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		A	41790513	C	A	41790513	3	1	10	1	0	0	0	0	1	0	0	0	10104	739	26	4	793	4	MYST3	8	41790513	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	8543649	41790513	104573509	182	2022										
LRRC67	286187	hgsc.bcm.edu	37	chr8	67922976	67922976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgcagaagttggttgtcaaCggctatgagctgattaagat	12	5	1	4	rs200466525	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:67922976C>T	ENST00000324682.5	-	5	670	c.526G>A	c.(526-528)Gtt>Att	p.V176I	PPP1R42_ENST00000522909.1_Missense_Mutation_p.V176I|PPP1R42_ENST00000517834.1_5'Flank	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	176					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TGGTTGTCAACGGCTATGAGC	0.284													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.0				p.V176I		Atlas-SNP	.											.	PPP1R42	2	.	0			c.G526A						PASS	.						75	74	75					8																	67922976		2203	4297	6500	SO:0001583	missense	286187	exon5			TGTCAACGGCTAT	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.526G>A	8.37:g.67922976C>T	ENSP00000315035:p.Val176Ile	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	63	20	0.31746	NM_001013626		Missense_Mutation	SNP	ENST00000324682.5	37	CCDS34902.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.75	2.629273	0.46944	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.37058	2.25;1.22	5.83	4.06	0.47325	.	0.157823	0.56097	N	0.000040	T	0.20170	0.0485	N	0.04746	-0.17	0.27969	N	0.936469	B	0.23442	0.085	B	0.25987	0.065	T	0.13764	-1.0497	10	0.37606	T	0.19	-4.3848	12.6376	0.56692	0.0:0.8663:0.0:0.1337	.	176	Q7Z4L9-2	.	I	176	ENSP00000429721:V176I;ENSP00000315035:V176I	ENSP00000315035:V176I	V	-	1	0	LRRC67	68085530	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.529000	0.53532	0.838000	0.34948	-0.194000	0.12790	GTT	C|1.000;T|0.000	0.000	strong		0.284	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		T	67922976	C	T	67922976	3	4	10	1	0	0	0	0	1	0	0	0	9019	536	19	1	168	1	LRRC67	8	67922976	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	26132463	67922976	78441046	183	2023										
CRISPLD1	83690	hgsc.bcm.edu	37	chr8	75898242	75898242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tatgaagtgtaccgcgcgggAgtggctcagagtaaccacag	14	9	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:75898242A>T	ENST00000262207.4	+	2	488	c.20A>T	c.(19-21)gAg>gTg	p.E7V	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	7					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCGCGCGGGAGTGGCTCAGA	0.463																																					p.E7V		Atlas-SNP	.											.	CRISPLD1	94	.	0			c.A20T						PASS	.						139	150	146					8																	75898242		2203	4300	6503	SO:0001583	missense	83690	exon2			CGCGGGAGTGGCT	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.20A>T	8.37:g.75898242A>T	ENSP00000262207:p.Glu7Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	79	19	0.240506	NM_031461	B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.583707	0.46006	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.60299	0.2;1.85	5.37	5.37	0.77165	.	0.261213	0.39985	N	0.001208	T	0.48519	0.1504	L	0.47716	1.5	0.80722	D	1	B	0.20671	0.047	B	0.19946	0.027	T	0.41787	-0.9489	10	0.25751	T	0.34	.	10.6874	0.45852	0.9261:0.0:0.0738:0.0	.	7	Q9H336	CRLD1_HUMAN	V	7	ENSP00000262207:E7V;ENSP00000430504:E7V	ENSP00000262207:E7V	E	+	2	0	CRISPLD1	76060797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.642000	0.54367	2.254000	0.74563	0.460000	0.39030	GAG	.	.	none		0.463	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		T	75898242	A	T	75898242	3	4	10	1	0	0	0	0	1	0	0	0	3882	304	11	5	22	5	CRISPLD1	8	75898242	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	7975266	75898242	70465780	184	2024										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721960	101721960	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgaccaccctccatcataacCtattaaaaaaaagaaaaaaa	2	11	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:101721960C>A	ENST00000318607.5	-	8	2101		c.e8-1		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCATCATAACCTATTAAAAAA	0.348																																					.		Atlas-SNP	.											.	PABPC1	76	.	0			c.973-1G>T						PASS	.						35	34	35					8																	101721960		2203	4300	6503	SO:0001630	splice_region_variant	26986	exon9			CATAACCTATTAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.973-1G>T	8.37:g.101721960C>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	126	42	0.333333	NM_002568	Q15097|Q93004	Splice_Site	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545658	0.45280	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000519596;ENST00000519100	.	.	.	5.06	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6976	0.57014	0.0:0.9191:0.0:0.0809	.	.	.	.	.	-1	.	.	.	-	.	.	PABPC1	101791136	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	7.706000	0.84615	2.514000	0.84764	0.655000	0.94253	.	.	.	none		0.348	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Intron	A	101721960	C	A	101721960	5	1	10	1	0	0	0	0	0	0	1	0	11363	695	24	4	966	4	PABPC1	8	101721960	Splice_Site	SNP	C	TCGA-FF-8041-01A-11D-2210-10	25823718	101721960	44642062	185	2025										
RIMS2	9699	hgsc.bcm.edu	37	chr8	104513283	104513283	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagaggagaaggagcagtccGtgctcaagtaaggacctggc	15	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:104513283G>C	ENST00000406091.3	+	1	169	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	75	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGCAGTCCGTGCTCAAGTA	0.647										HNSCC(12;0.0054)																											p.V57L		Atlas-SNP	.											.	RIMS2	1357	.	0			c.G169C						PASS	.						34	39	38					8																	104513283		1986	4141	6127	SO:0001583	missense	9699	exon1			CAGTCCGTGCTCA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.169G>C	8.37:g.104513283G>C	ENSP00000384892:p.Val57Leu	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	197	68	0.345178	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577298	0.45902	.	.	ENSG00000176406	ENST00000504942;ENST00000406091	T;T	0.76060	-0.99;-0.99	3.76	3.76	0.43208	.	.	.	.	.	T	0.67192	0.2867	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63782	-0.6559	9	0.29301	T	0.29	.	14.5166	0.67824	0.0:0.0:1.0:0.0	.	57	F8WD47	.	L	57	ENSP00000427018:V57L;ENSP00000384892:V57L	ENSP00000384892:V57L	V	+	1	0	RIMS2	104582459	0.985000	0.35326	1.000000	0.80357	0.988000	0.76386	2.166000	0.42406	1.791000	0.52520	0.462000	0.41574	GTG	.	.	none		0.647	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		C	104513283	G	C	104513283	3	2	10	1	0	0	0	0	1	0	0	0	13368	1145	40	4	171	4	RIMS2	8	104513283	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2791323	104513283	41850739	186	2026										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110495331	110495331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgatggatgctgtggattgGcaggtagacaaaataattat	12	4	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:110495331G>T	ENST00000378402.5	+	57	9677	c.9573G>T	c.(9571-9573)tgG>tgT	p.W3191C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3191					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTGGATTGGCAGGTAGACA	0.368										HNSCC(38;0.096)																											p.W3191C		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.G9573T						PASS	.						75	71	72					8																	110495331		1863	4096	5959	SO:0001583	missense	93035	exon57			GGATTGGCAGGTA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9573G>T	8.37:g.110495331G>T	ENSP00000367655:p.Trp3191Cys	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	103	32	0.31068	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129890	0.77549	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85339	-1.97;-1.97	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95742	0.8784	10	0.87932	D	0	.	17.1705	0.86828	0.0:0.0:1.0:0.0	.	3191	Q86WI1	PKHL1_HUMAN	C	3191;119	ENSP00000367655:W3191C;ENSP00000437376:W119C	ENSP00000367655:W3191C	W	+	3	0	PKHD1L1	110564507	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.552000	0.82192	2.654000	0.90174	0.585000	0.79938	TGG	.	.	none		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110495331	G	T	110495331	3	4	10	1	0	0	0	0	1	0	0	0	11972	1212	42	4	9799	4	PKHD1L1	8	110495331	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5982048	110495331	35868691	187	2027										
TRPS1	7227	hgsc.bcm.edu	37	chr8	116599566	116599566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccaaactttctctttgagccCgtccttctcttccagcttct	4	16	3	1	rs200408178		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:116599566C>T	ENST00000220888.5	-	4	2482	c.2323G>A	c.(2323-2325)Ggg>Agg	p.G775R	TRPS1_ENST00000395715.3_Missense_Mutation_p.G788R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G779R|TRPS1_ENST00000519076.1_Missense_Mutation_p.G529R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G775R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	775	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTTTGAGCCCGTCCTTCTCT	0.507									Langer-Giedion syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		19874	0.0		0.0	False		,,,				2504	0.0				p.G788R		Atlas-SNP	.											TRPS1_ENST00000395715,right_upper_lobe,carcinoma,+1,2	TRPS1	516	2	0			c.G2362A						scavenged	.						290	298	296					8																	116599566		1952	4141	6093	SO:0001583	missense	7227	exon5	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	TGAGCCCGTCCTT	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2323G>A	8.37:g.116599566C>T	ENSP00000220888:p.Gly775Arg	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.916	0.959915	0.18507	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98249	-4.82;-4.79;-4.78;-4.79;0.99	5.76	3.98	0.46160	.	0.351400	0.30419	N	0.009675	D	0.94258	0.8156	N	0.24115	0.695	0.29039	N	0.885228	B;B;B	0.27351	0.176;0.11;0.176	B;B;B	0.15870	0.014;0.006;0.014	D	0.90361	0.4373	10	0.72032	D	0.01	.	9.4407	0.38666	0.0:0.7859:0.0:0.2141	.	779;775;788	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	788;775;529;779;775	ENSP00000379065:G788R;ENSP00000220888:G775R;ENSP00000428910:G529R;ENSP00000428680:G779R;ENSP00000429174:G775R	ENSP00000220888:G775R	G	-	1	0	TRPS1	116668741	0.979000	0.34478	0.687000	0.30102	0.572000	0.35998	3.117000	0.50407	0.790000	0.33803	0.655000	0.94253	GGG	C|1.000;T|0.000	0.000	strong		0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116599566	C	T	116599566	3	4	10	1	0	0	0	0	1	0	0	0	16590	652	23	1	1534	1	TRPS1	8	116599566	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6104235	116599566	29764456	188	2028										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143958291	143958291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agccgctctccaaaaagagcCaagttgctggctgcggggag	14	11	1	1	rs61751154		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000517471.1_Silent_p.L202L|CYP11B1_ENST00000377675.3_Silent_p.L273L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0				p.L202L		Atlas-SNP	.											CYP11B1,right_lower_lobe,carcinoma,0,1	CYP11B1	128	1	0			c.G606A						scavenged	.						37	38	38					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	1584	exon4	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	AAGAGCCAAGTTG	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T		Somatic	144	15	0.104167		WXS	Illumina HiSeq	Phase_I	157	24	0.152866	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																			C|0.025;T|0.975	0.975	strong		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143958291	C	T	143958291	2	4	10	1	0	0	0	0	0	0	0	1	4145	593	21	2		2	CYP11B1	8	143958291	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	27358725	143958291	2405731	189	2029										
PLEC	5339	hgsc.bcm.edu	37	chr8	144993567	144993567	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggctgtgcacggggtcgatGatgccgcccgtggcgatctg	17	11	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:144993567G>T	ENST00000322810.4	-	32	11002	c.10833C>A	c.(10831-10833)atC>atA	p.I3611I	PLEC_ENST00000357649.2_Silent_p.I3478I|PLEC_ENST00000345136.3_Silent_p.I3474I|PLEC_ENST00000356346.3_Silent_p.I3460I|PLEC_ENST00000527096.1_Silent_p.I3497I|PLEC_ENST00000398774.2_Silent_p.I3442I|PLEC_ENST00000354589.3_Silent_p.I3474I|PLEC_ENST00000354958.2_Silent_p.I3452I|PLEC_ENST00000436759.2_Silent_p.I3501I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3611	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGTCGATGATGCCGCCCG	0.687																																					p.I3611I		Atlas-SNP	.											PLEC_ENST00000436759,bladder,carcinoma,-2,6	PLEC	1144	6	0			c.C10833A						scavenged	.						47	52	50					8																	144993567		2042	4183	6225	SO:0001819	synonymous_variant	5339	exon32			GTCGATGATGCCG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10833C>A	8.37:g.144993567G>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	37	2	0.0540541	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.	.	none		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144993567	G	T	144993567	2	4	10	1	0	0	0	0	0	0	0	1	12052	1280	45	4		4	PLEC	8	144993567	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1035276	144993567	1370455	190	2030										
FBXL6	26233	hgsc.bcm.edu	37	chr8	145579962	145579962	+	Missense_Mutation	SNP	C	C	T													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccacccaggactgctgacccCgacatggcagatcctgaagg					rs77494279	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:145579962C>T	ENST00000331890.5	-	7	1287	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	FBXL6_ENST00000455319.2_Missense_Mutation_p.R402Q|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	408					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTGCTGACCCCGACATGGCAG	0.642																																					p.R408Q		Atlas-SNP	.											FBXL6,colon,carcinoma,0,1	FBXL6	26	1	0			c.G1223A						scavenged	.						37	38	37					8																	145579962		2199	4296	6495	SO:0001583	missense	26233	exon7			TGACCCCGACATG	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1223G>A	8.37:g.145579962C>T	ENSP00000330098:p.Arg408Gln	Somatic	62	2	0.0322581		WXS	Illumina HiSeq	Phase_I	75	8	0.106667	NM_012162	Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	2.320	-0.355930	0.05138	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.23147	5.54;1.92	4.72	2.42	0.29668	.	0.526222	0.16851	N	0.196922	T	0.11410	0.0278	N	0.15975	0.35	0.23559	N	0.99742	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.29610	-1.0006	10	0.16420	T	0.52	-1.2663	4.1831	0.10385	0.0:0.125:0.2883:0.5867	.	408;402	Q8N531;Q8N531-2	FBXL6_HUMAN;.	Q	402;408	ENSP00000403873:R402Q;ENSP00000330098:R408Q	ENSP00000330098:R408Q	R	-	2	0	FBXL6	145550770	0.000000	0.05858	1.000000	0.80357	0.021000	0.10359	-0.300000	0.08243	0.656000	0.30886	-0.481000	0.04817	CGG	C|0.932;T|0.068	0.068	strong		0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		T	145579962	C	T	145579962	3	4	10	1	0	0	0	0	1	0	0	0	5723	652	23	1	408	1	FBXL6	8	145579962	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	586395	145579962	784060	191	2031	40	2								
FBXL6	26233	hgsc.bcm.edu	37	chr8	145579964	145579964	+	Silent	SNP	A	A	G													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acccaggactgctgaccccgAcatggcagatcctgaaggcc					rs75159950	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr8:145579964A>G	ENST00000331890.5	-	7	1285	c.1221T>C	c.(1219-1221)tgT>tgC	p.C407C	FBXL6_ENST00000455319.2_Silent_p.C401C|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	407					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCTGACCCCGACATGGCAGAT	0.642																																					p.C407C		Atlas-SNP	.											FBXL6,colon,carcinoma,0,1	FBXL6	26	1	0			c.T1221C						scavenged	.																																			SO:0001819	synonymous_variant	26233	exon7			ACCCCGACATGGC	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1221T>C	8.37:g.145579964A>G		Somatic	61	2	0.0327869		WXS	Illumina HiSeq	Phase_I	78	8	0.102564	NM_012162	Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	CCDS6422.1																																																																																			A|0.928;G|0.072	0.072	strong		0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		G	145579964	A	G	145579964	2	3	10	1	0	0	0	0	0	0	0	1	5723	273	10	2		2	FBXL6	8	145579964	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	2	145579964	784058	192	2032	40	2								
FOXD4	2298	hgsc.bcm.edu	37	chr9	117789	117789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gatggccatggtgatgagcgCgatgtacgaggaggggggct	20	6	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:117789C>T	ENST00000382500.2	-	1	628	c.331G>A	c.(331-333)Gcg>Acg	p.A111T		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	111					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A111T(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGATGAGCGCGATGTACGAG	0.647																																					p.A111T		Atlas-SNP	.											FOXD4,NS,carcinoma,0,1	FOXD4	75	1	1	Substitution - Missense(1)	prostate(1)	c.G331A						scavenged	.						68	95	86					9																	117789		2199	4298	6497	SO:0001583	missense	2298	exon1			TGAGCGCGATGTA	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.331G>A	9.37:g.117789C>T	ENSP00000371940:p.Ala111Thr	Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	227	3	0.0132159	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	17.99	3.523975	0.64747	.	.	ENSG00000170122	ENST00000382500	D	0.95554	-3.74	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.37219	U	0.002197	D	0.96546	0.8873	L	0.61218	1.895	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.96248	0.9181	10	0.87932	D	0	.	11.6185	0.51104	0.0:1.0:0.0:0.0	.	111	Q12950	FOXD4_HUMAN	T	111	ENSP00000371940:A111T	ENSP00000371940:A111T	A	-	1	0	FOXD4	107789	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.492000	0.66893	1.253000	0.44018	0.291000	0.19559	GCG	.	.	none		0.647	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117789	C	T	117789	3	4	10	1	0	0	0	0	1	0	0	0	5999	768	27	1	992	1	FOXD4	9	117789	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10		117789	141095642	193	2033										
KDM4C	23081	hgsc.bcm.edu	37	chr9	6880041	6880041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acctccggagcatggaaaacGacttgaaagactagctcaag	10	10	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:6880041G>T	ENST00000381309.3	+	6	1224	c.659G>T	c.(658-660)cGa>cTa	p.R220L	KDM4C_ENST00000442236.2_Missense_Mutation_p.R39L|KDM4C_ENST00000543771.1_Missense_Mutation_p.R220L|KDM4C_ENST00000536108.1_Missense_Mutation_p.R39L|KDM4C_ENST00000535193.1_Missense_Mutation_p.R242L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.R220L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	220	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.R220Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CATGGAAAACGACTTGAAAGA	0.303																																					p.R242L		Atlas-SNP	.											KDM4C_ENST00000381306,colon,carcinoma,+1,4	KDM4C	186	4	1	Substitution - Missense(1)	large_intestine(1)	c.G725T						scavenged	.						64	64	64					9																	6880041		2203	4299	6502	SO:0001583	missense	23081	exon6			GAAAACGACTTGA	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.659G>T	9.37:g.6880041G>T	ENSP00000370710:p.Arg220Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355061	0.95854	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.16	5.16	0.70880	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.153645	0.46442	D	0.000287	D	0.84334	0.5449	M	0.73753	2.245	0.80722	D	1	D;D;P;P;D;D	0.89917	1.0;0.999;0.873;0.85;0.999;0.999	D;D;P;B;D;D	0.80764	0.994;0.993;0.723;0.435;0.962;0.965	D	0.85891	0.1428	10	0.87932	D	0	-0.0458	18.8266	0.92122	0.0:0.0:1.0:0.0	.	39;220;220;242;220;220	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	L	242;220;220;220;39;39	ENSP00000442382:R242L;ENSP00000445427:R220L;ENSP00000370710:R220L;ENSP00000370707:R220L;ENSP00000409353:R39L;ENSP00000440656:R39L	ENSP00000370707:R220L	R	+	2	0	KDM4C	6870041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.040000	0.93783	2.677000	0.91161	0.591000	0.81541	CGA	.	.	none		0.303	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	6880041	G	T	6880041	3	4	10	1	0	0	0	0	1	0	0	0	8130	1058	37	4	747	4	KDM4C	9	6880041	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6762252	6880041	134333390	194	2034										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18889701	18889701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgcgcagggaaggttcgccCtgcggtgcagcccatcgcgt	15	14	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:18889701C>T	ENST00000380548.4	+	25	4937	c.4598C>T	c.(4597-4599)cCt>cTt	p.P1533L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.P234L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1533						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGGTTCGCCCTGCGGTGCAG	0.667																																					p.P1533L		Atlas-SNP	.											ADAMTSL1_ENST00000380548,right_upper_lobe,carcinoma,+1,1	ADAMTSL1	306	1	0			c.C4598T						scavenged	.						24	29	27					9																	18889701		2080	4214	6294	SO:0001583	missense	92949	exon25			TTCGCCCTGCGGT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4598C>T	9.37:g.18889701C>T	ENSP00000369921:p.Pro1533Leu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118516	0.56505	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.60672	0.17;0.17;0.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.961;0.999	T	0.77991	-0.2379	10	0.46703	T	0.11	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	234;1533	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	L	1533;234;237;237;135	ENSP00000369921:P1533L;ENSP00000369918:P234L;ENSP00000369911:P135L	ENSP00000325584:P237L	P	+	2	0	ADAMTSL1	18879701	0.999000	0.42202	0.976000	0.42696	0.071000	0.16799	5.298000	0.65710	2.745000	0.94114	0.650000	0.86243	CCT	.	.	none		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18889701	C	T	18889701	3	4	10	1	0	0	0	0	1	0	0	0	274	681	24	2	4700	2	ADAMTSL1	9	18889701	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	12009660	18889701	122323730	195	2035										
GRHPR	9380	hgsc.bcm.edu	37	chr9	37432011	37432011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actgtcattcccaggggcgaCgtcgtaaaccaggacgacct	11	13	1	0	rs549318773		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:37432011C>T	ENST00000318158.6	+	8	826	c.741C>T	c.(739-741)gaC>gaT	p.D247D	GRHPR_ENST00000607784.1_Silent_p.D247D	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	247					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCAGGGGCGACGTCGTAAACC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19216	0.0		0.0	False		,,,				2504	0.001				p.D247D		Atlas-SNP	.											GRHPR,rectum,carcinoma,+2,3	GRHPR	35	3	0			c.C741T						scavenged	.						164	126	139					9																	37432011		2203	4300	6503	SO:0001819	synonymous_variant	9380	exon8			GGGCGACGTCGTA	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.741C>T	9.37:g.37432011C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	136	2	0.0147059	NM_012203	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	ENST00000318158.6	37	CCDS6609.1																																																																																			.	.	none		0.562	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		T	37432011	C	T	37432011	2	4	10	1	0	0	0	0	0	0	0	1	6766	535	19	1		1	GRHPR	9	37432011	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	18542310	37432011	103781420	196	2036										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73151520	73151520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgctcaatggtgtggtacatCggaggctctgagtcccaggg	15	10	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:73151520C>T	ENST00000377110.3	-	25	4716	c.4473G>A	c.(4471-4473)ccG>ccA	p.P1491P	TRPM3_ENST00000377106.1_Silent_p.P1363P|TRPM3_ENST00000408909.2_Silent_p.P1350P|TRPM3_ENST00000357533.2_Silent_p.P1495P|TRPM3_ENST00000396285.1_Silent_p.P1350P|TRPM3_ENST00000423814.3_Silent_p.P1518P|TRPM3_ENST00000360823.2_Silent_p.P1353P|TRPM3_ENST00000396292.4_Silent_p.P1363P|TRPM3_ENST00000377105.1_Silent_p.P1350P|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Silent_p.P1353P|TRPM3_ENST00000396280.5_Silent_p.P1340P			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1516					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.P1495P(1)|p.P1363P(1)|p.P1491P(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTGGTACATCGGAGGCTCTG	0.483																																					p.P1491P		Atlas-SNP	.											TRPM3_ENST00000423814,NS,carcinoma,0,4	TRPM3	700	4	3	Substitution - coding silent(3)	lung(3)	c.G4473A						scavenged	.						104	109	107					9																	73151520		2203	4300	6503	SO:0001819	synonymous_variant	80036	exon25			GTACATCGGAGGC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4473G>A	9.37:g.73151520C>T		Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	395	5	0.0126582	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	C	1.147	-0.647757	0.03506	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.02	-6.87	0.01671	.	.	.	.	.	T	0.50803	0.1637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56872	-0.7907	4	.	.	.	-14.4847	10.0628	0.42286	0.0737:0.134:0.6605:0.1318	.	.	.	.	N	1340	.	.	D	-	1	0	TRPM3	72341340	0.000000	0.05858	0.069000	0.20011	0.881000	0.50899	-2.538000	0.00938	-0.817000	0.04335	-1.267000	0.01435	GAT	.	.	none		0.483	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		T	73151520	C	T	73151520	2	4	10	1	0	0	0	0	0	0	0	1	16584	871	31	1		1	TRPM3	9	73151520	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	35719509	73151520	68061911	197	2037										
TLE4	7091	hgsc.bcm.edu	37	chr9	82337469	82337469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caagccagacaaataccaacTacatcttcatgagagctgtg	7	11	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:82337469T>G	ENST00000376552.2	+	18	3108	c.2090T>G	c.(2089-2091)cTa>cGa	p.L697R	TLE4_ENST00000265284.6_Missense_Mutation_p.L672R|TLE4_ENST00000376544.3_Missense_Mutation_p.L628R|TLE4_ENST00000376537.4_Missense_Mutation_p.L729R|TLE4_ENST00000376520.4_Missense_Mutation_p.L729R|TLE4_ENST00000376534.4_Missense_Mutation_p.L334R	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	697					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAATACCAACTACATCTTCAT	0.488																																					p.L697R		Atlas-SNP	.											.	TLE4	187	.	0			c.T2090G						PASS	.						142	139	140					9																	82337469		2032	4228	6260	SO:0001583	missense	7091	exon18			ACCAACTACATCT	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2090T>G	9.37:g.82337469T>G	ENSP00000365735:p.Leu697Arg	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	129	46	0.356589	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	T	30	5.049799	0.93740	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.85181	0.1004	10	0.87932	D	0	-13.1859	16.8222	0.85835	0.0:0.0:0.0:1.0	.	672;628;729;697	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	R	697;628;729;729;334;672	ENSP00000365735:L697R;ENSP00000365727:L628R;ENSP00000365703:L729R;ENSP00000365720:L729R;ENSP00000365717:L334R;ENSP00000265284:L672R	ENSP00000265284:L672R	L	+	2	0	TLE4	81527289	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTA	.	.	none		0.488	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		G	82337469	T	G	82337469	3	3	10	1	0	0	0	0	1	0	0	0	15938	1522	53	5	2160	5	TLE4	9	82337469	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	9185949	82337469	58875962	198	2038										
C9orf103	414328	hgsc.bcm.edu	37	chr9	86258428	86258428	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atattaacacaaggaaaagaTggtgtagctctgaagtgtga	11	4	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:86258428T>C	ENST00000376419.4	+	5	301	c.297T>C	c.(295-297)gaT>gaC	p.D99D	IDNK_ENST00000277124.8_Silent_p.D53D|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_Missense_Mutation_p.W85R|IDNK_ENST00000454393.1_Silent_p.D142D	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	99					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										AAGGAAAAGATGGTGTAGCTC	0.493																																					p.D99D		Atlas-SNP	.											C9orf103,colon,carcinoma,+2,1	.	.	1	0			c.T297C						PASS	.						80	80	80					9																	86258428		2203	4300	6503	SO:0001819	synonymous_variant	414328	exon5			AAAAGATGGTGTA	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"chromosome 9 open reading frame 103"	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.297T>C	9.37:g.86258428T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	152	31	0.203947	NM_001001551	A5PLN6|Q5T6J6	Silent	SNP	ENST00000376419.4	37	CCDS35048.2	.	.	.	.	.	.	.	.	.	.	T	6.660	0.490211	0.12702	.	.	ENSG00000148057	ENST00000376417	.	.	.	5.53	-7.14	0.01527	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39354	-0.9618	5	0.87932	D	0	-7.5855	1.0152	0.01505	0.2267:0.2169:0.3482:0.2082	.	.	.	.	R	85	.	ENSP00000365599:W85R	W	+	1	0	C9orf103	85448248	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.065000	0.11617	-1.401000	0.02058	-1.262000	0.01453	TGG	.	.	none		0.493	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		C	86258428	T	C	86258428	2	2	10	1	0	0	0	0	0	0	0	1	2446	1461	51	2		2	C9orf103	9	86258428	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3920959	86258428	54955003	199	2039										
ZNF189	7743	hgsc.bcm.edu	37	chr9	104170651	104170651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcagagaattcacactgggGaaaggccctatgagtgtaat	11	7	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:104170651G>A	ENST00000339664.2	+	3	730	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	ZNF189_ENST00000259395.4_Missense_Mutation_p.E159K|ZNF189_ENST00000374861.3_Missense_Mutation_p.E187K	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	201					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCACACTGGGGAAAGGCCCTA	0.413																																					p.E201K		Atlas-SNP	.											.	ZNF189	79	.	0			c.G601A						PASS	.						77	81	80					9																	104170651		2203	4300	6503	SO:0001583	missense	7743	exon3			ACTGGGGAAAGGC	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.601G>A	9.37:g.104170651G>A	ENSP00000342019:p.Glu201Lys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	132	55	0.416667	NM_003452	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306653	0.81247	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.24350	1.86;1.86;1.86	4.79	4.79	0.61399	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000113	T	0.48150	0.1484	M	0.64080	1.96	0.54753	D	0.999982	D;D;D	0.71674	0.985;0.995;0.998	P;D;D	0.74023	0.807;0.931;0.982	T	0.40156	-0.9578	10	0.62326	D	0.03	.	16.1533	0.81636	0.0:0.0:1.0:0.0	.	186;187;201	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	K	187;201;159	ENSP00000363995:E187K;ENSP00000342019:E201K;ENSP00000259395:E159K	ENSP00000259395:E159K	E	+	1	0	ZNF189	103210472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.478000	0.73596	2.941000	0.99782	0.655000	0.94253	GAA	.	.	none		0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		A	104170651	G	A	104170651	3	1	10	1	0	0	0	0	1	0	0	0	17751	1175	41	2	611	2	ZNF189	9	104170651	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	17912223	104170651	37042780	200	2040										
ZNF462	58499	hgsc.bcm.edu	37	chr9	109691621	109691621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggggggctacttcacggccGtctatgcagatgagcatgag	15	9	2	3	rs376844260		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:109691621G>A	ENST00000277225.5	+	3	5717	c.5428G>A	c.(5428-5430)Gtc>Atc	p.V1810I	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1810I|ZNF462_ENST00000441147.2_Missense_Mutation_p.V655I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1810					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1810I(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTCACGGCCGTCTATGCAGA	0.547																																					p.V1810I		Atlas-SNP	.											ZNF462,NS,carcinoma,0,1	ZNF462	322	1	1	Substitution - Missense(1)	breast(1)	c.G5428A						PASS	.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	92	94	93		5428	5.1	1	9		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF462	NM_021224.4	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	1810/2507	109691621	2,13004	2203	4300	6503	SO:0001583	missense	58499	exon3			ACGGCCGTCTATG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5428G>A	9.37:g.109691621G>A	ENSP00000277225:p.Val1810Ile	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	100	20	0.2	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166219	0.38217	2.27E-4	1.16E-4	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05319	3.46;3.89;4.01;4.01	5.97	5.07	0.68467	.	0.110994	0.64402	N	0.000008	T	0.02727	0.0082	N	0.04508	-0.205	0.80722	D	1	P;B	0.39748	0.686;0.016	B;B	0.26094	0.066;0.008	T	0.60016	-0.7345	10	0.19590	T	0.45	.	15.0554	0.71910	0.068:0.0:0.932:0.0	.	1810;1810	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	1810;1810;693;655	ENSP00000277225:V1810I;ENSP00000414570:V1810I;ENSP00000363818:V693I;ENSP00000397306:V655I	ENSP00000277225:V1810I	V	+	1	0	ZNF462	108731442	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.989000	0.70587	1.524000	0.49035	0.591000	0.81541	GTC	.	.	weak		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109691621	G	A	109691621	3	1	10	1	0	0	0	0	1	0	0	0	17923	1145	40	1	5434	1	ZNF462	9	109691621	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5520970	109691621	31521810	201	2041										
DBC1	1620	hgsc.bcm.edu	37	chr9	121929513	121929513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agtccagctggggtttccccGgggccacaggaggggccagg	18	12	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:121929513G>A	ENST00000265922.3	-	8	2596	c.2135C>T	c.(2134-2136)cCg>cTg	p.P712L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	712			P -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.P712L(1)									GGGTTTCCCCGGGGCCACAGG	0.557																																					p.P712L		Atlas-SNP	.											DBC1,rectum,carcinoma,0,4	DBC1	194	4	1	Substitution - Missense(1)	kidney(1)	c.C2135T						PASS	.						86	94	91					9																	121929513		2203	4300	6503	SO:0001583	missense	1620	exon8			TTCCCCGGGGCCA	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2135C>T	9.37:g.121929513G>A	ENSP00000265922:p.Pro712Leu	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	226	79	0.349558	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531209	0.64972	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.19250	2.16	5.64	4.73	0.59995	.	0.100848	0.64402	D	0.000001	T	0.23727	0.0574	M	0.61703	1.905	0.80722	D	1	P	0.35433	0.501	B	0.28011	0.085	T	0.07121	-1.0789	10	0.87932	D	0	-22.0002	16.2315	0.82344	0.0:0.0:0.8659:0.1341	.	712	O60477	DBC1_HUMAN	L	712	ENSP00000265922:P712L	ENSP00000265922:P712L	P	-	2	0	DBC1	120969334	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	7.234000	0.78134	1.508000	0.48769	0.585000	0.79938	CCG	.	.	none		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		A	121929513	G	A	121929513	3	1	10	1	0	0	0	0	1	0	0	0	4247	1116	39	1	154	1	DBC1	9	121929513	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12237892	121929513	19283918	202	2042										
CEP110	11064	hgsc.bcm.edu	37	chr9	123931934	123931934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcaattggtggagaaatcagGtgagctgttggccctccaga	14	8	1	3	rs376768102		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:123931934G>T	ENST00000373855.1	+	39	6376	c.6116G>T	c.(6115-6117)gGt>gTt	p.G2039V	CNTRL_ENST00000373850.1_Missense_Mutation_p.G1487V|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.G2039V			Q7Z7A1	CNTRL_HUMAN	centriolin	2039	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGAAATCAGGTGAGCTGTTG	0.502																																					p.G2039V		Atlas-SNP	.											.	CNTRL	161	.	0			c.G6116T						PASS	.						94	96	95					9																	123931934		2203	4300	6503	SO:0001583	missense	11064	exon37			AATCAGGTGAGCT	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6116G>T	9.37:g.123931934G>T	ENSP00000362962:p.Gly2039Val	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272727	0.05716	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.30182	1.84;1.84;1.54	6.02	-1.54	0.08584	.	.	.	.	.	T	0.17916	0.0430	L	0.29908	0.895	0.19300	N	0.99998	B	0.24823	0.112	B	0.16722	0.016	T	0.19516	-1.0303	9	0.33141	T	0.24	.	5.9625	0.19307	0.4083:0.223:0.3687:0.0	.	2039	Q7Z7A1	CNTRL_HUMAN	V	2039;2039;2039;795;196;1487;721	ENSP00000362962:G2039V;ENSP00000238341:G2039V;ENSP00000362956:G1487V	ENSP00000238341:G2039V	G	+	2	0	CNTRL	122971755	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.236000	0.09003	-0.605000	0.05753	-0.150000	0.13652	GGT	.	.	alt		0.502	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		T	123931934	G	T	123931934	3	4	10	1	0	0	0	0	1	0	0	0	3245	1261	44	4	6262	4	CEP110	9	123931934	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2002421	123931934	17281497	203	2043										
PMPCA	23203	hgsc.bcm.edu	37	chr9	139306549	139306549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tacccaagcctgtttttgctAcagttgatggacaggaaaag	10	8	0	1	rs367845329		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr9:139306549A>G	ENST00000371717.3	+	2	181	c.172A>G	c.(172-174)Aca>Gca	p.T58A	SDCCAG3_ENST00000371725.3_5'Flank|PMPCA_ENST00000371720.1_Missense_Mutation_p.T58A|SDCCAG3_ENST00000357365.3_5'Flank|PMPCA_ENST00000399219.3_5'UTR|SDCCAG3_ENST00000298537.7_5'Flank	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	58					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTTTTTGCTACAGTTGATGG	0.473																																					p.T58A		Atlas-SNP	.											.	PMPCA	29	.	0			c.A172G						PASS	.	A	ALA/THR	0,4406		0,0,2203	177	163	167		172	3.3	0.8	9		167	1,8599	1.2+/-3.3	0,1,4299	no	missense	PMPCA	NM_015160.1	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	58/526	139306549	1,13005	2203	4300	6503	SO:0001583	missense	23203	exon2			TTTGCTACAGTTG	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.172A>G	9.37:g.139306549A>G	ENSP00000360782:p.Thr58Ala	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	288	72	0.25	NM_015160	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	8.346	0.829805	0.16749	0.0	1.16E-4	ENSG00000165688	ENST00000371720;ENST00000371717	T	0.11821	2.74	4.46	3.31	0.37934	.	0.246395	0.41396	D	0.000886	T	0.09158	0.0226	L	0.28556	0.865	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.09377	0.004;0.002	T	0.21245	-1.0251	10	0.20046	T	0.44	.	8.9219	0.35617	0.8332:0.0:0.0:0.1668	.	58;58	B4DRK5;Q10713	.;MPPA_HUMAN	A	58	ENSP00000360782:T58A	ENSP00000360782:T58A	T	+	1	0	PMPCA	138426370	0.602000	0.26916	0.813000	0.32504	0.911000	0.54048	1.358000	0.34102	0.670000	0.31165	-0.368000	0.07277	ACA	.	.	weak		0.473	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		G	139306549	A	G	139306549	3	3	10	1	0	0	0	0	1	0	0	0	12140	391	14	2	178	2	PMPCA	9	139306549	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	15374615	139306549	1906882	204	2044										
TUBB8	347688	hgsc.bcm.edu	37	chr10	94004	94004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cactgactccatcagctccgCgccttcggtgtagtgtccct	9	16	1	1	rs145405488	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:94004C>T	ENST00000309812.4	-	4	390	c.328G>A	c.(328-330)Gcg>Acg	p.A110T	TUBB8_ENST00000447903.2_Missense_Mutation_p.A38T|TUBB8_ENST00000332708.5_Silent_p.A73A|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	110					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A110T(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATCAGCTCCGCGCCTTCGGTG	0.607																																					p.A110T	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,colon,carcinoma,+2,2	TUBB8	62	2	1	Substitution - Missense(1)	skin(1)	c.G328A						scavenged	.	C	THR/ALA	55,4351	38.4+/-70.7	0,55,2148	71	61	64		328		0.3	10	dbSNP_134	64	2,8598	1.2+/-3.3	0,2,4298	no	missense	TUBB8	NM_177987.2	58	0,57,6446	TT,TC,CC		0.0233,1.2483,0.4383	probably-damaging	110/445	94004	57,12949	2203	4300	6503	SO:0001583	missense	347688	exon4			GCTCCGCGCCTTC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.328G>A	10.37:g.94004C>T	ENSP00000311042:p.Ala110Thr	Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	298	3	0.0100671	NM_177987	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300454	0.23650	0.012483	2.33E-4	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.69306	-0.39	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000011	T	0.67468	0.2896	M	0.83223	2.63	0.36308	D	0.857475	D;P	0.57571	0.98;0.67	P;B	0.56434	0.798;0.13	T	0.73799	-0.3869	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	73;110	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	T	38;76;73;110	ENSP00000403895:A38T	ENSP00000272035:A76T	A	-	1	0	RP11-631M21.2	84004	0.998000	0.40836	0.290000	0.24890	0.293000	0.27360	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GCG	C|0.991;T|0.009	0.009	strong		0.607	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	94004	C	T	94004	3	4	10	1	0	0	0	0	1	0	0	0	16758	768	27	1	1010	1	TUBB8	10	94004	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10		94004	135440743	205	2045										
FAM107B	83641	hgsc.bcm.edu	37	chr10	14816655	14816655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggtgagtcttgctttccacGtggacatgacttgcagtgaa	12	8	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:14816655G>A	ENST00000181796.2	-	1	241	c.8C>T	c.(7-9)aCg>aTg	p.T3M		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTCCACGTGGACATGAC	0.483																																					p.T3M		Atlas-SNP	.											.	FAM107B	43	.	0			c.C8T						PASS	.						82	65	71					10																	14816655		2203	4300	6503	SO:0001583	missense	83641	exon1			TTCCACGTGGACA	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.8C>T	10.37:g.14816655G>A	ENSP00000181796:p.Thr3Met	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	152	44	0.289474	NM_031453	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672163	0.29693	.	.	ENSG00000065809	ENST00000181796	T	0.39229	1.09	5.84	1.91	0.25777	.	0.778029	0.11243	N	0.584448	T	0.20577	0.0495	N	0.14661	0.345	0.80722	D	1	B	0.31054	0.306	B	0.22152	0.038	T	0.12656	-1.0539	10	0.87932	D	0	-0.0064	2.2074	0.03939	0.2697:0.1203:0.4863:0.1237	.	3	Q9H098-2	.	M	3	ENSP00000181796:T3M	ENSP00000181796:T3M	T	-	2	0	FAM107B	14856661	0.013000	0.17824	1.000000	0.80357	0.694000	0.40290	0.028000	0.13644	0.389000	0.25086	0.650000	0.86243	ACG	.	.	none		0.483	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		A	14816655	G	A	14816655	3	1	10	1	0	0	0	0	1	0	0	0	5390	1145	40	1	932	1	FAM107B	10	14816655	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	14722651	14816655	120718092	206	2046										
CACNB2	783	hgsc.bcm.edu	37	chr10	18795465	18795465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tagttccagaaaatcaacacCtccatcatctggtaagtagg	7	10	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:18795465C>T	ENST00000324631.7	+	6	719	c.659C>T	c.(658-660)cCt>cTt	p.P220L	CACNB2_ENST00000377331.2_Missense_Mutation_p.P192L|CACNB2_ENST00000282343.8_Missense_Mutation_p.P192L|CACNB2_ENST00000396576.2_Missense_Mutation_p.P165L|CACNB2_ENST00000352115.6_Missense_Mutation_p.P220L|CACNB2_ENST00000377329.4_Missense_Mutation_p.P166L|CACNB2_ENST00000377315.4_Missense_Mutation_p.P172L|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.P165L	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	220					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.P220H(1)|p.P166H(1)|p.P165H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAATCAACACCTCCATCATCT	0.363																																					p.P220L		Atlas-SNP	.											CACNB2_ENST00000377329,NS,carcinoma,0,3	CACNB2	220	3	3	Substitution - Missense(3)	lung(3)	c.C659T						scavenged	.						115	105	109					10																	18795465		2203	4300	6503	SO:0001583	missense	783	exon6			CAACACCTCCATC	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.659C>T	10.37:g.18795465C>T	ENSP00000320025:p.Pro220Leu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	95	3	0.0315789	NM_201597	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314495	0.95655	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84730	-1.89;-1.71;-1.87;-1.71;-1.86;-1.71;-1.86;-1.86	5.9	5.9	0.94986	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.83118	2.625	0.80722	D	1	B;D;D;D;D;D;P;D;D;D;D;P;D;D;D	0.89917	0.365;0.999;0.985;0.999;0.997;0.984;0.941;0.991;0.991;0.985;0.996;0.944;1.0;0.997;0.984	B;D;P;D;D;P;P;D;P;P;D;P;D;D;P	0.91635	0.08;0.991;0.722;0.991;0.928;0.889;0.685;0.948;0.889;0.809;0.937;0.882;0.999;0.972;0.889	D	0.93437	0.6790	10	0.87932	D	0	-16.3254	20.2626	0.98452	0.0:1.0:0.0:0.0	.	172;172;166;166;192;172;166;166;176;165;192;192;220;220;220	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	L	220;220;192;192;165;165;166;172	ENSP00000320025:P220L;ENSP00000344474:P220L;ENSP00000282343:P192L;ENSP00000366548:P192L;ENSP00000379821:P165L;ENSP00000366536:P165L;ENSP00000366546:P166L;ENSP00000366532:P172L	ENSP00000282343:P192L	P	+	2	0	CACNB2	18835471	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.280000	0.78610	2.802000	0.96397	0.650000	0.86243	CCT	.	.	none		0.363	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		T	18795465	C	T	18795465	3	4	10	1	0	0	0	0	1	0	0	0	2553	681	24	2	901	2	CACNB2	10	18795465	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3978810	18795465	116739282	207	2047										
ARMC3	219681	hgsc.bcm.edu	37	chr10	23287301	23287301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctcgctgtcaccgcaactgCgtgtgacgttgaagcccgga	12	13	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:23287301C>T	ENST00000298032.5	+	11	1484	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ARMC3_ENST00000376528.4_Missense_Mutation_p.A204V|ARMC3_ENST00000409049.3_Missense_Mutation_p.A467V|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.A467V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	467						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCGCAACTGCGTGTGACGTT	0.458																																					p.A467V		Atlas-SNP	.											ARMC3,NS,carcinoma,-1,1	ARMC3	102	1	0			c.C1400T						scavenged	.						59	57	57					10																	23287301		2203	4300	6503	SO:0001583	missense	219681	exon11			CAACTGCGTGTGA	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1400C>T	10.37:g.23287301C>T	ENSP00000298032:p.Ala467Val	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	85	2	0.0235294	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397573	0.25205	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.65916	-0.18;-0.18;1.41;0.6	5.44	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.341113	0.33092	N	0.005283	T	0.52419	0.1733	L	0.52759	1.655	0.35458	D	0.796233	B;B	0.18310	0.006;0.027	B;B	0.13407	0.009;0.004	T	0.55302	-0.8162	10	0.22706	T	0.39	-18.7917	9.9229	0.41474	0.0:0.74:0.173:0.087	.	467;467	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	467;467;403;467;204	ENSP00000298032:A467V;ENSP00000386943:A467V;ENSP00000387288:A467V;ENSP00000365711:A204V	ENSP00000298032:A467V	A	+	2	0	ARMC3	23327307	0.824000	0.29247	0.034000	0.17996	0.010000	0.07245	1.449000	0.35123	1.128000	0.42052	0.467000	0.42956	GCG	.	.	none		0.458	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		T	23287301	C	T	23287301	3	4	10	1	0	0	0	0	1	0	0	0	952	768	27	1	1438	1	ARMC3	10	23287301	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4491836	23287301	112247446	208	2048										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	5	0	2	rs76607193	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X		Atlas-SNP	.											CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	67	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T						scavenged	.						191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	201	5	0.0248756	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	C|0.997;T|0.003	0.003	strong		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	10	1	0	0	0	0	0	1	0	0	3939	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	20372071	43659372	91875375	209	2049										
MYPN	84665	hgsc.bcm.edu	37	chr10	69959256	69959256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	attgacccactcactcagcgCgacgcagggacctataagtg	10	13	2	1	rs144488384	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:69959256C>T	ENST00000358913.5	+	17	3905	c.3417C>T	c.(3415-3417)cgC>cgT	p.R1139R	MYPN_ENST00000354393.2_Silent_p.R864R|MYPN_ENST00000540630.1_Silent_p.R1139R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1139	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R1139R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCACTCAGCGCGACGCAGGGA	0.547																																					p.R1139R		Atlas-SNP	.											MYPN,NS,carcinoma,0,1	MYPN	189	1	1	Substitution - coding silent(1)	endometrium(1)	c.C3417T						scavenged	.	C		1,4405	2.1+/-5.4	0,1,2202	126	104	111		3417	-10.8	0	10	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	MYPN	NM_032578.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1139/1321	69959256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84665	exon17			TCAGCGCGACGCA	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3417C>T	10.37:g.69959256C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	245	3	0.0122449	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	CCDS7275.1																																																																																			C|1.000;T|0.000	0.000	weak		0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		T	69959256	C	T	69959256	2	4	10	1	0	0	0	0	0	0	0	1	10098	755	27	1		1	MYPN	10	69959256	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	26299884	69959256	65575491	210	2050										
BMPR1A	657	hgsc.bcm.edu	37	chr10	88679129	88679129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atggcacccaaggaaagcccGcaattgctcatcgagaccta	9	13	1	1	rs201509164		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:88679129G>A	ENST00000372037.3	+	10	1606	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.A357T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AGGAAAGCCCGCAATTGCTCA	0.483			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.A357T	Ovarian(190;603 2086 22044 30335 47971)	Atlas-SNP	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	BMPR1A,NS,carcinoma,0,1	BMPR1A	118	1	1	Substitution - Missense(1)	breast(1)	c.G1069A						scavenged	.						54	58	57					10																	88679129		2203	4297	6500	SO:0001583	missense	657	exon10	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	AAGCCCGCAATTG	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1069G>A	10.37:g.88679129G>A	ENSP00000361107:p.Ala357Thr	Somatic	201	7	0.0348259		WXS	Illumina HiSeq	Phase_I	231	21	0.0909091	NM_004329	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338669	0.95783	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.93307	-3.2	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95846	0.8870	10	0.87932	D	0	.	18.3376	0.90294	0.0:0.0:1.0:0.0	.	357	P36894	BMR1A_HUMAN	T	357	ENSP00000361107:A357T	ENSP00000224764:A357T	A	+	1	0	BMPR1A	88669109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.381000	0.81170	0.591000	0.81541	GCA	A|1.000;|0.000	1.000	weak		0.483	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		A	88679129	G	A	88679129	3	1	10	1	0	0	0	0	1	0	0	0	1469	1087	38	1	1099	1	BMPR1A	10	88679129	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	18719873	88679129	46855618	211	2051										
LGI1	9211	hgsc.bcm.edu	37	chr10	95552602	95552602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaagacatctactgcgaaggCcccccagaatacaagaagcg	10	12	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:95552602C>A	ENST00000371418.4	+	6	866	c.606C>A	c.(604-606)ggC>ggA	p.G202G	LGI1_ENST00000371413.3_Silent_p.G202G|LGI1_ENST00000542308.1_Silent_p.G154G	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ACTGCGAAGGCCCCCCAGAAT	0.418																																					p.G202G		Atlas-SNP	.											.	LGI1	69	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.C606A						PASS	.						133	135	134					10																	95552602		2203	4300	6503	SO:0001819	synonymous_variant	9211	exon6			CGAAGGCCCCCCA	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.606C>A	10.37:g.95552602C>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	134	61	0.455224	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																			.	.	none		0.418	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		A	95552602	C	A	95552602	2	1	10	1	0	0	0	0	0	0	0	1	8751	726	26	4		4	LGI1	10	95552602	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6873473	95552602	39982145	212	2052										
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96259982	96259982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctcctttaattctaggcgtAgtacaagaagagttcgagaa	9	8	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:96259982A>G	ENST00000225235.4	+	6	1527	c.1417A>G	c.(1417-1419)Agt>Ggt	p.S473G		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	473							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTCTAGGCGTAGTACAAGAAG	0.403																																					p.S473G		Atlas-SNP	.											TBC1D12,NS,carcinoma,-1,1	TBC1D12	51	1	0			c.A1417G						scavenged	.						128	115	119					10																	96259982		1839	4096	5935	SO:0001583	missense	23232	exon6			AGGCGTAGTACAA	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1417A>G	10.37:g.96259982A>G	ENSP00000225235:p.Ser473Gly	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	75	3	0.04	NM_015188	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697073	0.48202	.	.	ENSG00000108239	ENST00000225235	T	0.57595	0.39	4.8	4.8	0.61643	Rab-GAP/TBC domain (1);	0.287488	0.39759	N	0.001273	T	0.31734	0.0806	N	0.10874	0.06	0.50039	D	0.999843	B	0.10296	0.003	B	0.06405	0.002	T	0.12400	-1.0549	10	0.19590	T	0.45	-15.3937	12.5865	0.56421	1.0:0.0:0.0:0.0	.	473	O60347	TBC12_HUMAN	G	473	ENSP00000225235:S473G	ENSP00000225235:S473G	S	+	1	0	TBC1D12	96249972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.084000	0.57650	2.124000	0.65301	0.533000	0.62120	AGT	.	.	none		0.403	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96259982	A	G	96259982	3	3	10	1	0	0	0	0	1	0	0	0	15598	420	15	3	1439	3	TBC1D12	10	96259982	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	707380	96259982	39274765	213	2053										
CYP2C19	1557	hgsc.bcm.edu	37	chr10	96580331	96580331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acttacttggagctgggacaGagacaacaagcacaaccctg	10	11	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:96580331G>A	ENST00000371321.3	+	6	980	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	300					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|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)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCTGGGACAGAGACAACAAG	0.428																																					p.E300K		Atlas-SNP	.											.	CYP2C19	88	.	0			c.G898A						PASS	.						193	174	181					10																	96580331		2203	4300	6503	SO:0001583	missense	1557	exon6			GGGACAGAGACAA	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.898G>A	10.37:g.96580331G>A	ENSP00000360372:p.Glu300Lys	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	102	30	0.294118	NM_000769	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796723	0.50208	.	.	ENSG00000165841	ENST00000371321	T	0.17213	2.29	3.95	3.95	0.45737	.	0.074405	0.51477	U	0.000091	T	0.47488	0.1448	M	0.92604	3.325	0.29808	N	0.831907	D	0.89917	1.0	D	0.69654	0.965	T	0.56768	-0.7924	10	0.87932	D	0	.	11.4092	0.49915	0.0:0.0:1.0:0.0	.	300	P33261	CP2CJ_HUMAN	K	300	ENSP00000360372:E300K	ENSP00000360372:E300K	E	+	1	0	CYP2C19	96570321	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	5.180000	0.65048	2.016000	0.59253	0.400000	0.26472	GAG	.	.	none		0.428	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		A	96580331	G	A	96580331	3	1	10	1	0	0	0	0	1	0	0	0	4166	943	33	2	920	2	CYP2C19	10	96580331	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	320349	96580331	38954416	214	2054										
PIK3AP1	118788	hgsc.bcm.edu	37	chr10	98369476	98369476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccagctgctcacttgctgtGctggaggtgctgtctgtttt	12	11	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:98369476G>A	ENST00000339364.5	-	14	2282	c.2163C>T	c.(2161-2163)agC>agT	p.S721S	PIK3AP1_ENST00000371110.2_Silent_p.S543S|PIK3AP1_ENST00000371109.3_Silent_p.S320S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	721					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CACTTGCTGTGCTGGAGGTGC	0.572																																					p.S721S		Atlas-SNP	.											.	PIK3AP1	111	.	0			c.C2163T						PASS	.						99	106	104					10																	98369476		2203	4300	6503	SO:0001819	synonymous_variant	118788	exon14			TGCTGTGCTGGAG	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2163C>T	10.37:g.98369476G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	111	48	0.432432	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																			.	.	none		0.572	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		A	98369476	G	A	98369476	2	1	10	1	0	0	0	0	0	0	0	1	11908	1310	46	2		2	PIK3AP1	10	98369476	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1789145	98369476	37165271	215	2055										
ABCC2	1244	hgsc.bcm.edu	37	chr10	101558978	101558978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acctaggaagatgttgaaaaGaaaaaaaagaagtctgggac	11	4	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:101558978G>A	ENST00000370449.4	+	8	995	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	294					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTTGAAAAGAAAAAAAAGA	0.443																																					p.K294K		Atlas-SNP	.											ABCC2,NS,carcinoma,0,1	ABCC2	160	1	1	Substitution - Missense(1)	breast(1)	c.G882A						scavenged	.						132	148	142					10																	101558978		2203	4300	6503	SO:0001819	synonymous_variant	1244	exon8			TGAAAAGAAAAAA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.882G>A	10.37:g.101558978G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	57	2	0.0350877	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																			.	.	none		0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101558978	G	A	101558978	2	1	10	1	0	0	0	0	0	0	0	1	53	933	33	2		2	ABCC2	10	101558978	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3189502	101558978	33975769	216	2056										
PDZD7	79955	hgsc.bcm.edu	37	chr10	102778029	102778029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccccaggggaccccgacttcTccttcttccgctgctgcttc	8	19	2	0	rs555444131	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:102778029T>G	ENST00000370215.3	-	9	1574	c.1349A>C	c.(1348-1350)gAg>gCg	p.E450A		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	450						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCGACTTCTCCTTCTTCCG	0.667																																					p.E450A		Atlas-SNP	.											.	PDZD7	101	.	0			c.A1349C						PASS	.						42	42	42					10																	102778029		2203	4300	6503	SO:0001583	missense	79955	exon9			GACTTCTCCTTCT	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1349A>C	10.37:g.102778029T>G	ENSP00000359234:p.Glu450Ala	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	110	45	0.409091	NM_001195263	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844861	0.51164	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.14266	2.52	3.98	2.75	0.32379	.	1.878030	0.03231	N	0.179010	T	0.14184	0.0343	L	0.34521	1.04	0.33421	D	0.579826	B;B	0.30406	0.278;0.122	B;B	0.30572	0.057;0.117	T	0.23547	-1.0185	10	0.62326	D	0.03	.	8.9983	0.36066	0.0:0.0:0.1856:0.8144	.	450;450	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	A	450	ENSP00000359234:E450A	ENSP00000359234:E450A	E	-	2	0	PDZD7	102768019	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.560000	0.53763	1.661000	0.50771	0.418000	0.28097	GAG	.	.	none		0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		G	102778029	T	G	102778029	3	3	10	1	0	0	0	0	1	0	0	0	11704	1551	54	5	212	5	PDZD7	10	102778029	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1219051	102778029	32756718	217	2057										
NFKB2	4791	hgsc.bcm.edu	37	chr10	104160764	104160764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacccctgcacctggcagctGgactggggtacccgaccctc	11	18	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:104160764G>A	ENST00000369966.3	+	18	2279	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R	NFKB2_ENST00000428099.1_Missense_Mutation_p.G677R|NFKB2_ENST00000189444.6_Missense_Mutation_p.G677R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	677			Missing (in truncated form EB308).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCTGGCAGCTGGACTGGGGTA	0.647			T	IGH@	B-NHL																																p.G677R		Atlas-SNP	.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2	48	.	0			c.G2029A						PASS	.						33	41	39					10																	104160764		2063	4206	6269	SO:0001583	missense	4791	exon18			GCAGCTGGACTGG	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2029G>A	10.37:g.104160764G>A	ENSP00000358983:p.Gly677Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.990200	0.74589	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.61742	0.08;0.08;0.08	4.48	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.109105	0.64402	D	0.000009	T	0.53562	0.1804	N	0.04724	-0.175	0.32550	N	0.532449	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.63377	-0.6651	10	0.52906	T	0.07	.	11.0484	0.47872	0.0869:0.0:0.9131:0.0	.	677;677	Q00653;A8K9D9	NFKB2_HUMAN;.	R	677	ENSP00000410256:G677R;ENSP00000358983:G677R;ENSP00000189444:G677R	ENSP00000189444:G677R	G	+	1	0	NFKB2	104150754	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.183000	0.58317	2.526000	0.85167	0.531000	0.56144	GGA	.	.	none		0.647	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			A	104160764	G	A	104160764	3	1	10	1	0	0	0	0	1	0	0	0	10376	1349	47	2	2095	2	NFKB2	10	104160764	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1382735	104160764	31373983	218	2058										
NRAP	4892	hgsc.bcm.edu	37	chr10	115381651	115381651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	actctgtaagccataagcctTcttggcccattccaccttca	5	15	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:115381651T>C	ENST00000359988.3	-	24	2990	c.2746A>G	c.(2746-2748)Aag>Gag	p.K916E	NRAP_ENST00000369360.3_Missense_Mutation_p.K889E|NRAP_ENST00000369358.4_Missense_Mutation_p.K924E|NRAP_ENST00000360478.3_Missense_Mutation_p.K881E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCATAAGCCTTCTTGGCCCAT	0.493																																					p.K916E		Atlas-SNP	.											NRAP,NS,carcinoma,+1,1	NRAP	208	1	0			c.A2746G						scavenged	.						247	185	206					10																	115381651		2203	4300	6503	SO:0001583	missense	4892	exon24			AAGCCTTCTTGGC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2746A>G	10.37:g.115381651T>C	ENSP00000353078:p.Lys916Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	191	2	0.0104712	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525566	0.85600	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.99	5.99	0.97316	.	0.097482	0.64402	D	0.000001	T	0.50701	0.1631	M	0.83774	2.66	0.42217	D	0.991836	P;P;P	0.45672	0.749;0.734;0.864	B;P;P	0.50314	0.434;0.637;0.515	T	0.52495	-0.8568	10	0.27082	T	0.32	.	11.3194	0.49412	0.1675:0.0:0.0:0.8325	.	916;881;916	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	924;889;916;881	ENSP00000358365:K924E;ENSP00000358367:K889E;ENSP00000353078:K916E;ENSP00000353666:K881E	ENSP00000353078:K916E	K	-	1	0	NRAP	115371641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.329000	0.52060	2.291000	0.77112	0.533000	0.62120	AAG	.	.	none		0.493	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115381651	T	C	115381651	3	2	10	1	0	0	0	0	1	0	0	0	10638	1792	62	2	2522	2	NRAP	10	115381651	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	11220887	115381651	20153096	219	2059										
JAKMIP3	282973	hgsc.bcm.edu	37	chr10	133962951	133962951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcacccgccatcagcttccaCcacacgcccttcgtggacgg	8	19	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr10:133962951C>T	ENST00000298622.4	+	14	2022	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	628						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCAGCTTCCACCACACGCCCT	0.657																																					p.H628H		Atlas-SNP	.											.	JAKMIP3	69	.	0			c.C1884T						PASS	.						71	51	58					10																	133962951		2184	4286	6470	SO:0001819	synonymous_variant	282973	exon14			CTTCCACCACACG	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1884C>T	10.37:g.133962951C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																			.	.	none		0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133962951	C	T	133962951	2	4	10	1	0	0	0	0	0	0	0	1	7942	506	18	2		2	JAKMIP3	10	133962951	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	18581300	133962951	1571796	220	2060										
IFITM3	10410	hgsc.bcm.edu	37	chr11	320723	320723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gttgtggggcgcccccagcaCagccacctcgtgctcctcct	11	18	0	0	rs199582787	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	31					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCCAGCACAGCCACCTCG	0.612																																					p.V31M		Atlas-SNP	.											IFITM3,brain,glioma,0,1	IFITM3	132	1	0			c.G91A						scavenged	.						87	98	95					11																	320723		1967	4140	6107	SO:0001583	missense	10410	exon1			CCAGCACAGCCAC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.91G>A	11.37:g.320723C>T	ENSP00000382707:p.Val31Met	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_021034	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526447	0.27299	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.79454	-1.03;-1.27	4.61	-4.91	0.03085	.	11.488500	0.02440	N	0.084490	T	0.64516	0.2605	L	0.39147	1.195	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46400	-0.9194	10	0.13108	T	0.6	0.9022	6.4601	0.21952	0.1231:0.361:0.0:0.5159	.	31	Q01628	IFM3_HUMAN	M	31;15;10	ENSP00000382707:V31M;ENSP00000432108:V10M	ENSP00000372047:V15M	V	-	1	0	IFITM3	310723	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.638000	0.02013	-0.562000	0.06086	-1.790000	0.00627	GTG	.	.	weak		0.612	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		T	320723	C	T	320723	3	4	10	1	0	0	0	0	1	0	0	0	7528	478	17	2	318	2	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10		320723	134685793	221	2061										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	732	80	0.10929		WXS	Illumina HiSeq	Phase_I	698	77	0.110315	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	10	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	696345	1017068	133989448	222	2062										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017566	1017566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtgaatgtagggatgtagaGgttttggccgtgctaaatga	15	3	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:1017566G>A	ENST00000421673.2	-	31	5285	c.5235C>T	c.(5233-5235)acC>acT	p.T1745T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1745	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGTAGAGGTTTTGGCCG	0.547																																					p.T1745T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-2,2	MUC6	408	2	0			c.C5235T						scavenged	.						769	740	750					11																	1017566		2199	4287	6486	SO:0001819	synonymous_variant	4588	exon31			TGTAGAGGTTTTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5235C>T	11.37:g.1017566G>A		Somatic	632	30	0.0474684		WXS	Illumina HiSeq	Phase_I	636	27	0.0424528	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017566	G	A	1017566	2	1	10	1	0	0	0	0	0	0	0	1	9980	987	35	2		2	MUC6	11	1017566	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	498	1017566	133988950	223	2063										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092929	1092929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cggcacacagaccccaacatCgacacccatcaccaccacca	4	21	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:1092929C>T	ENST00000441003.2	+	30	4775	c.4748C>T	c.(4747-4749)tCg>tTg	p.S1583L	MUC2_ENST00000359061.5_Missense_Mutation_p.S1584L|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	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)	accccaacatcgacacccatc	0.632																																					p.S1583L		Atlas-SNP	.											MUC2_ENST00000441003,rectum,carcinoma,+1,4	MUC2	614	4	0			c.C4748T						scavenged	.						78	115	102					11																	1092929		1918	3556	5474	SO:0001583	missense	4583	exon30			CAACATCGACACC	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.4748C>T	11.37:g.1092929C>T	ENSP00000415183:p.Ser1583Leu	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	105	9	0.0857143	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	4.659	0.122508	0.08931	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.58;3.12	1.75	-1.21	0.09524	.	3.022220	0.02729	U	0.114829	T	0.09202	0.0227	.	.	.	0.09310	N	1	B	0.22541	0.071	B	0.10450	0.005	T	0.31336	-0.9947	9	0.29301	T	0.29	.	6.8082	0.23788	0.6899:0.3101:0.0:0.0	.	1583	E7EUV1	.	L	1583;1584	ENSP00000415183:S1583L;ENSP00000351956:S1584L	ENSP00000351956:S1584L	S	+	2	0	MUC2	1082929	0.156000	0.22821	0.002000	0.10522	0.037000	0.13140	2.746000	0.47467	0.075000	0.16796	0.121000	0.15741	TCG	.	.	none		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092929	C	T	1092929	3	4	10	1	0	0	0	0	1	0	0	0	9975	893	31	1	4866	1	MUC2	11	1092929	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	75363	1092929	133913587	224	2064										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	384	13	0.0338542		WXS	Illumina HiSeq	Phase_I	363	16	0.0440771	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	10	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	3515464	4608393	130398123	225	2065										
TRIM68	55128	hgsc.bcm.edu	37	chr11	4621978	4621978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctggcagtttctggttggtgTctccatagtgcacacgtttt	11	9	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:4621978T>C	ENST00000300747.5	-	7	1275	c.986A>G	c.(985-987)gAc>gGc	p.D329G		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	329	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGTTGGTGTCTCCATAGTG	0.512																																					p.D329G		Atlas-SNP	.											TRIM68,NS,carcinoma,-1,1	TRIM68	53	1	0			c.A986G						scavenged	.						86	82	83					11																	4621978		2201	4298	6499	SO:0001583	missense	55128	exon7			TTGGTGTCTCCAT	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.986A>G	11.37:g.4621978T>C	ENSP00000300747:p.Asp329Gly	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	202	3	0.0148515	NM_018073	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139312	0.37728	.	.	ENSG00000167333	ENST00000300747;ENST00000544055;ENST00000526337	T;T	0.09817	2.94;2.94	5.52	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.239376	0.29767	N	0.011248	T	0.06050	0.0157	N	0.13352	0.335	0.29898	N	0.824659	B	0.15473	0.013	B	0.20184	0.028	T	0.26326	-1.0106	10	0.21014	T	0.42	.	8.9462	0.35760	0.2957:0.0:0.0:0.7043	.	329	Q6AZZ1	TRI68_HUMAN	G	329;50;106	ENSP00000300747:D329G;ENSP00000434681:D106G	ENSP00000300747:D329G	D	-	2	0	TRIM68	4578554	0.843000	0.29541	1.000000	0.80357	0.965000	0.64279	1.873000	0.39558	0.985000	0.38656	0.459000	0.35465	GAC	.	.	none		0.512	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		C	4621978	T	C	4621978	3	2	10	1	0	0	0	0	1	0	0	0	16538	1667	58	2	475	2	TRIM68	11	4621978	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	13585	4621978	130384538	226	2066										
OR52E2	119678	hgsc.bcm.edu	37	chr11	5080687	5080687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagtagaacatgggctggtgTaggctgctgtcagtcttgat	14	6	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:5080687T>C	ENST00000321522.2	-	1	170	c.171A>G	c.(169-171)ctA>ctG	p.L57L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGCTGGTGTAGGCTGCTGT	0.493																																					p.L57L		Atlas-SNP	.											OR52E2,NS,carcinoma,-1,1	OR52E2	63	1	0			c.A171G						scavenged	.						111	97	102					11																	5080687		2201	4298	6499	SO:0001819	synonymous_variant	119678	exon1			CTGGTGTAGGCTG	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.171A>G	11.37:g.5080687T>C		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	216	4	0.0185185	NM_001005164		Silent	SNP	ENST00000321522.2	37	CCDS31371.1																																																																																			.	.	none		0.493	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		C	5080687	T	C	5080687	2	2	10	1	0	0	0	0	0	0	0	1	11115	1625	57	2		2	OR52E2	11	5080687	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	458709	5080687	129925829	227	2067										
CTR9	9646	hgsc.bcm.edu	37	chr11	10777233	10777233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	attacttcatagaaccatttGttgggaagagcctgcttctg	9	8	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:10777233G>T	ENST00000361367.2	+	4	819	c.393G>T	c.(391-393)ttG>ttT	p.L131F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	131					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAACCATTTGTTGGGAAGAG	0.383																																					p.L131F		Atlas-SNP	.											.	CTR9	94	.	0			c.G393T						PASS	.						139	136	137					11																	10777233		2201	4294	6495	SO:0001583	missense	9646	exon4			CCATTTGTTGGGA	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.393G>T	11.37:g.10777233G>T	ENSP00000355013:p.Leu131Phe	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	116	48	0.413793	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536972	0.45176	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.78707	-1.2;1.12	5.97	2.57	0.30868	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.77820	2.39	0.80722	D	1	P	0.40834	0.73	B	0.31547	0.132	T	0.64474	-0.6399	10	0.19590	T	0.45	-8.2928	8.3402	0.32239	0.1941:0.0:0.6841:0.1217	.	131	Q6PD62	CTR9_HUMAN	F	131;118	ENSP00000355013:L131F;ENSP00000431458:L118F	ENSP00000355013:L131F	L	+	3	2	CTR9	10733809	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	1.477000	0.35431	0.814000	0.34374	0.591000	0.81541	TTG	.	.	none		0.383	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		T	10777233	G	T	10777233	3	4	10	1	0	0	0	0	1	0	0	0	4024	1368	48	4	407	4	CTR9	11	10777233	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5696546	10777233	124229283	228	2068										
SOX6	55553	hgsc.bcm.edu	37	chr11	16010543	16010543	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agctgcactgctgcactcacCtaagattttgctaatgttgg	9	10	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:16010543C>T	ENST00000352083.6	-	14	2043	c.1966G>A	c.(1966-1968)Gga>Aga	p.G656R	SOX6_ENST00000316399.6_Splice_Site_p.G636R|SOX6_ENST00000528252.1_Splice_Site_p.G629R|SOX6_ENST00000396356.3_Splice_Site_p.G636R|SOX6_ENST00000528429.1_Splice_Site_p.G656R|SOX6_ENST00000527619.1_Splice_Site_p.G632R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	656					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G632*(1)|p.G636*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCACTCACCTAAGATTTTG	0.493											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G669R		Atlas-SNP	.											SOX6_ENST00000527619,NS,carcinoma,0,2	SOX6	149	2	2	Substitution - Nonsense(2)	lung(2)	c.G2005A						scavenged	.						146	136	139					11																	16010543		2200	4294	6494	SO:0001630	splice_region_variant	55553	exon14			ACTCACCTAAGAT	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1966+1G>A	11.37:g.16010543C>T		Somatic	138	0	0	707	WXS	Illumina HiSeq	Phase_I	185	2	0.0108108	NM_001145819	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	31	5.086314	0.94100	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42;-5.42;-5.42	5.72	5.72	0.89469	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.99435	4.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97133	0.9819	9	.	.	.	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	636;656;632	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	R	636;656;636;629;632;656	ENSP00000324948:G636R;ENSP00000339876:G656R;ENSP00000379644:G636R;ENSP00000432134:G629R;ENSP00000434455:G632R;ENSP00000433233:G656R	.	G	-	1	0	SOX6	15967119	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.695000	0.91970	0.655000	0.94253	GGA	.	.	none		0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	Missense_Mutation	T	16010543	C	T	16010543	5	4	10	1	0	0	0	0	0	0	1	0	14955	695	24	2	532	2	SOX6	11	16010543	Splice_Site	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5233310	16010543	118995973	229	2069										
AMBRA1	55626	hgsc.bcm.edu	37	chr11	46564251	46564251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcaccgaagaggcactggttCtgggcgggggcatggattcc	16	10	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:46564251C>T	ENST00000458649.2	-	7	1734	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	AMBRA1_ENST00000533727.1_Missense_Mutation_p.R349K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R439K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R349K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R439K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R439K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R439K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	439					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGCACTGGTTCTGGGCGGGGG	0.562																																					p.R349K		Atlas-SNP	.											.	AMBRA1	201	.	0			c.G1046A						PASS	.						67	67	67					11																	46564251		2201	4299	6500	SO:0001583	missense	55626	exon8			CTGGTTCTGGGCG	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1316G>A	11.37:g.46564251C>T	ENSP00000415327:p.Arg439Lys	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	172	38	0.22093	NM_001267783	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	C	18.52	3.642548	0.67244	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;D;T;T;T;T;T	0.84146	-1.24;-1.81;-1.08;-1.21;-1.08;-1.05;-1.21	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	L	0.32530	0.975	0.58432	D	0.999992	D;D;D;D;D;D	0.64830	0.994;0.99;0.99;0.974;0.99;0.974	D;D;D;D;D;D	0.72982	0.97;0.979;0.979;0.969;0.979;0.969	D	0.89784	0.3963	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	439;439;439;349;349;349	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	K	349;349;439;439;439;349;439;439	ENSP00000318313:R349K;ENSP00000433372:R349K;ENSP00000431926:R439K;ENSP00000410899:R439K;ENSP00000298834:R439K;ENSP00000415327:R439K;ENSP00000433945:R439K	ENSP00000298834:R439K	R	-	2	0	AMBRA1	46520827	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.172000	0.77604	2.767000	0.95098	0.563000	0.77884	AGA	.	.	none		0.562	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		T	46564251	C	T	46564251	3	4	10	1	0	0	0	0	1	0	0	0	565	913	32	2	2628	2	AMBRA1	11	46564251	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	30553708	46564251	88442265	230	2070										
FNBP4	23360	hgsc.bcm.edu	37	chr11	47744591	47744591	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttgggagctggtggtggtggAggaggaggaggaggaggtgg	26	1	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463																																					p.P914P		Atlas-SNP	.											FNBP4,NS,carcinoma,0,1	FNBP4	99	1	1	Substitution - coding silent(1)	endometrium(1)	c.T2742A						PASS	.						15	15	15					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	23360	exon15			TGGTGGAGGAGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742T>A	11.37:g.47744591A>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	53	4	0.0754717	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																			.	.	none		0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			T	47744591	A	T	47744591	2	4	10	1	0	0	0	0	0	0	0	1	5967	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	1180340	47744591	87261925	231	2071										
OR8K5	219453	hgsc.bcm.edu	37	chr11	55927379	55927379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caccagtacatgacacagtcGctgagacataataacataat	6	10	0	2	rs199580379		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:55927379G>A	ENST00000313447.1	-	1	414	c.415C>T	c.(415-417)Cga>Tga	p.R139*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGACACAGTCGCTGAGACATA	0.403																																					p.R139X		Atlas-SNP	.											.	OR8K5	82	.	0			c.C415T						PASS	.	G	stop/ARG	0,4402		0,0,2201	84	86	85		415	-0.1	0	11		85	5,8585	4.3+/-15.6	0,5,4290	yes	stop-gained	OR8K5	NM_001004058.2		0,5,6491	AA,AG,GG		0.0582,0.0,0.0385		139/308	55927379	5,12987	2201	4295	6496	SO:0001587	stop_gained	219453	exon1			ACAGTCGCTGAGA	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.415C>T	11.37:g.55927379G>A	ENSP00000323853:p.Arg139*	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_001004058	Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136431	0.09032	0.0	5.82E-4	ENSG00000181752	ENST00000313447	.	.	.	4.18	-0.0501	0.13832	.	0.217057	0.32952	N	0.005447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1815	0.48631	0.0:0.0:0.4694:0.5306	.	.	.	.	X	139	.	ENSP00000323853:R139X	R	-	1	2	OR8K5	55683955	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.402000	0.02499	0.222000	0.20900	-0.612000	0.04053	CGA	.	.	weak		0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		A	55927379	G	A	55927379	4	1	10	1	0	0	0	0	0	1	0	0	11245	1095	38	1	511	1	OR8K5	11	55927379	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	8182788	55927379	79079137	232	2072										
SYT7	9066	hgsc.bcm.edu	37	chr11	61291310	61291310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccccgtacctgatgtgcccCcgatgtccatggctttgagg	12	14	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:61291310C>T	ENST00000263846.4	-	7	1223	c.896G>A	c.(895-897)gGg>gAg	p.G299E	SYT7_ENST00000540677.1_Missense_Mutation_p.G374E|SYT7_ENST00000535826.1_Missense_Mutation_p.G418E|SYT7_ENST00000542670.1_Missense_Mutation_p.G507E|SYT7_ENST00000542836.1_Missense_Mutation_p.G343E|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000539008.1_Missense_Mutation_p.G582E	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	299	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATGTGCCCCCGATGTCCAT	0.597																																					p.G374E		Atlas-SNP	.											.	SYT7	39	.	0			c.G1121A						PASS	.						289	275	280					11																	61291310		2202	4299	6501	SO:0001583	missense	9066	exon8			GTGCCCCCGATGT	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.896G>A	11.37:g.61291310C>T	ENSP00000263846:p.Gly299Glu	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	192	41	0.213542	NM_001252065	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233456	0.79688	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.48	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.43701	1.375	0.80722	D	1	P;D	0.53151	0.948;0.958	P;P	0.59171	0.689;0.853	T	0.77702	-0.2489	10	0.72032	D	0.01	.	17.5306	0.87813	0.0:1.0:0.0:0.0	.	374;299	F5GZU9;O43581	.;SYT7_HUMAN	E	299;374;582;343;507;418	ENSP00000263846:G299E;ENSP00000444201:G374E;ENSP00000439694:G582E;ENSP00000444568:G343E;ENSP00000444019:G507E;ENSP00000437720:G418E	ENSP00000263846:G299E	G	-	2	0	SYT7	61047886	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.190000	0.50973	2.192000	0.70111	0.462000	0.41574	GGG	.	.	none		0.597	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		T	61291310	C	T	61291310	3	4	10	1	0	0	0	0	1	0	0	0	15476	623	22	2	327	2	SYT7	11	61291310	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5363931	61291310	73715206	233	2073										
CDC42BPG	55561	hgsc.bcm.edu	37	chr11	64594201	64594201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaggctgggcgccgcaacgcCtcggagaagctgtggggccg	19	12	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:64594201C>T	ENST00000342711.5	-	35	4454	c.4455G>A	c.(4453-4455)gaG>gaA	p.E1485E		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCGCAACGCCTCGGAGAAGC	0.711																																					p.E1485E		Atlas-SNP	.											.	CDC42BPG	101	.	0			c.G4455A						PASS	.						11	15	14					11																	64594201		2184	4250	6434	SO:0001819	synonymous_variant	55561	exon35			CAACGCCTCGGAG	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4455G>A	11.37:g.64594201C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_017525		Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																			.	.	none		0.711	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64594201	C	T	64594201	2	4	10	1	0	0	0	0	0	0	0	1	3074	680	24	2		2	CDC42BPG	11	64594201	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3302891	64594201	70412315	234	2074										
PPP2R5B	5526	hgsc.bcm.edu	37	chr11	64699058	64699058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggggctgctcaaatactggCcaaaaacctgcacccagaag	11	12	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:64699058C>T	ENST00000164133.2	+	10	1595	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	325					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAATACTGGCCAAAAACCTG	0.597																																					p.P325S		Atlas-SNP	.											.	PPP2R5B	47	.	0			c.C973T						PASS	.						41	38	39					11																	64699058		2201	4297	6498	SO:0001583	missense	5526	exon10			TACTGGCCAAAAA	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.973C>T	11.37:g.64699058C>T	ENSP00000164133:p.Pro325Ser	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	47	25	0.531915	NM_006244	Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	CCDS8085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.729428|4.729428	0.89390|0.89390	.|.	.|.	ENSG00000068971|ENSG00000068971	ENST00000359279|ENST00000164133;ENST00000527441	.|.	.|.	.|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83367|0.83367	0.5239|0.5239	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.64410	.|0.925	D|D	0.87185|0.87185	0.2230|0.2230	6|9	0.09338|0.87932	T|D	0.73|0	-8.6715|-8.6715	15.1517|15.1517	0.72706|0.72706	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|325	.|Q15173	.|2A5B_HUMAN	V|S	350|325	.|.	ENSP00000352225:A350V|ENSP00000164133:P325S	A|P	+|+	2|1	0|0	PPP2R5B|PPP2R5B	64455634|64455634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.549000|5.549000	0.67261|0.67261	2.509000|2.509000	0.84616|0.84616	0.462000|0.462000	0.41574|0.41574	GCC|CCA	.	.	none		0.597	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		T	64699058	C	T	64699058	3	4	10	1	0	0	0	0	1	0	0	0	12393	739	26	2	1007	2	PPP2R5B	11	64699058	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	104857	64699058	70307458	235	2075										
CTSF	8722	hgsc.bcm.edu	37	chr11	66331416	66331416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcccctcttcagtccaccacCgccgagctggccatggtgtt	10	17	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:66331416C>T	ENST00000310325.5	-	13	1552	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	481				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.A481A(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTCCACCACCGCCGAGCTGG	0.672																																					p.A481A		Atlas-SNP	.											CTSF,caecum,carcinoma,-1,2	CTSF	42	2	1	Substitution - coding silent(1)	large_intestine(1)	c.G1443A						scavenged	.						25	28	27					11																	66331416		2199	4294	6493	SO:0001819	synonymous_variant	8722	exon13			CACCACCGCCGAG	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1443G>A	11.37:g.66331416C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																			.	.	none		0.672	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		T	66331416	C	T	66331416	2	4	10	1	0	0	0	0	0	0	0	1	4034	639	23	1		1	CTSF	11	66331416	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1632358	66331416	68675100	236	2076										
CCDC87	55231	hgsc.bcm.edu	37	chr11	66359191	66359191	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acctcatttctaagcttcaaAgtaatggtcactggctgtgg	9	9	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:66359191A>T	ENST00000333861.3	-	1	1363	c.1296T>A	c.(1294-1296)acT>acA	p.T432T	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	432					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TAAGCTTCAAAGTAATGGTCA	0.552																																					p.T432T		Atlas-SNP	.											.	CCDC87	83	.	0			c.T1296A						PASS	.						38	43	41					11																	66359191		2200	4295	6495	SO:0001819	synonymous_variant	55231	exon1			CTTCAAAGTAATG	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1296T>A	11.37:g.66359191A>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	75	25	0.333333	NM_018219	Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																			.	.	none		0.552	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		T	66359191	A	T	66359191	2	4	10	1	0	0	0	0	0	0	0	1	2862	59	3	5		5	CCDC87	11	66359191	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	27775	66359191	68647325	237	2077										
ALDH3B2	222	hgsc.bcm.edu	37	chr11	67432799	67432799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctctggcccccaatggccacGcggctgcagcccagcaatgc	11	18	1	0	rs80147122		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:67432799G>A	ENST00000349015.3	-	7	1101	c.663C>T	c.(661-663)cgC>cgT	p.R221R	ALDH3B2_ENST00000530069.1_Silent_p.R221R|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	221					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAATGGCCACGCGGCTGCAGC	0.632																																					p.R221R		Atlas-SNP	.											ALDH3B2,NS,haematopoietic_neoplasm,0,2	ALDH3B2	46	2	0			c.C663T						scavenged	.						52	59	57					11																	67432799		2200	4293	6493	SO:0001819	synonymous_variant	222	exon7			GGCCACGCGGCTG	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.663C>T	11.37:g.67432799G>A		Somatic	275	2	0.00727273		WXS	Illumina HiSeq	Phase_I	273	8	0.029304	NM_001031615	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																			.	.	strong		0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		A	67432799	G	A	67432799	2	1	10	1	0	0	0	0	0	0	0	1	500	1074	38	1		1	ALDH3B2	11	67432799	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1073608	67432799	67573717	238	2078										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76871271	76871271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcatcacccgcggggagacGgtgtccaccccactgagcag	12	16	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:76871271G>A	ENST00000409709.3	+	11	1415	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	MYO7A_ENST00000409893.1_Silent_p.T381T|MYO7A_ENST00000409619.2_Silent_p.T370T|MYO7A_ENST00000458637.2_Silent_p.T381T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	381	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.T381T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGGGGAGACGGTGTCCACCC	0.667																																					p.T381T		Atlas-SNP	.											MYO7A,NS,carcinoma,0,1	MYO7A	164	1	1	Substitution - coding silent(1)	endometrium(1)	c.G1143A						scavenged	.						28	37	34					11																	76871271		2110	4186	6296	SO:0001819	synonymous_variant	4647	exon11			GGAGACGGTGTCC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1143G>A	11.37:g.76871271G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	57	2	0.0350877	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			.	.	none		0.667	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76871271	G	A	76871271	2	1	10	1	0	0	0	0	0	0	0	1	10082	1103	39	1		1	MYO7A	11	76871271	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	9438472	76871271	58135245	239	2079										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78437206	78437208	+	In_Frame_Del	DEL	TGT	TGT	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atttcatagccctgcagcacTgttgttcttttttcccacag							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:78437206_78437208delTGT	ENST00000278550.7	-	23	3928_3930	c.3466_3468delACA	c.(3466-3468)acadel	p.T1156del		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1156					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)										CCTGCAGCACTGTTGTTCTTTTT	0.433																																					p.1156_1157del		Pindel,Atlas-Indel	.											.	.	.	.	0			c.3467_3469del						PASS	.																																			SO:0001651	inframe_deletion	26011	exon23			.	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.3466_3468delACA	11.37:g.78437209_78437211delTGT	ENSP00000278550:p.Thr1156del	Somatic	237	.	.		WXS	Illumina HiSeq	Phase_I	255	39	0.153	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	In_Frame_Del	DEL	ENST00000278550.7	37	CCDS44688.1																																																																																			.	.	none		0.433	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			-	78437208	TGT	-	78437206	7	5	10	1	0	1	0	1	0	0	0	0	10837	1567	55	0	4889	0	ODZ4	11	78437206	In_Frame_Del	DEL	TGT	TCGA-FF-8041-01A-11D-2210-10	1565935	78437206	56569310	240	2080										
KDM4DL	390245	hgsc.bcm.edu	37	chr11	94759726	94759726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agttatgagctctggaaacaCaggcaagacttggccattgt	11	8	1	2	rs76354273	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:94759726C>T	ENST00000450979.2	+	1	1305	c.1005C>T	c.(1003-1005)caC>caT	p.H335H		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	335					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TCTGGAAACACAGGCAAGACT	0.512													C|||	220	0.0439297	0.0174	0.0014	5008	,	,		21472	0.1637		0.001	False		,,,				2504	0.0307				p.H335H		Atlas-SNP	.											.	KDM4E	60	.	0			c.C1005T						PASS	.	C		34,1350		0,34,658	64	59	61		1005	1.4	0.2	11	dbSNP_132	61	6,3176		0,6,1585	no	coding-synonymous	KDM4DL	NM_001161630.1		0,40,2243	TT,TC,CC		0.1886,2.4566,0.876		335/507	94759726	40,4526	692	1591	2283	SO:0001819	synonymous_variant	390245	exon1			GAAACACAGGCAA	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1005C>T	11.37:g.94759726C>T		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	12	6	0.5	NM_001161630		Silent	SNP	ENST00000450979.2	37	CCDS44713.1																																																																																			C|0.947;T|0.053	0.053	strong		0.512	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		T	94759726	C	T	94759726	2	4	10	1	0	0	0	0	0	0	0	1	8132	477	17	2		2	KDM4DL	11	94759726	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	16322520	94759726	40246790	241	2081										
PGR	5241	hgsc.bcm.edu	37	chr11	100922186	100922186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tagatcaggtgcaaaatacaGcatctgcccactgacgtgtt	9	10	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:100922186G>T	ENST00000325455.5	-	5	3779	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	PGR_ENST00000534013.1_Missense_Mutation_p.L182M|PGR_ENST00000263463.5_Missense_Mutation_p.L674M	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	776	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GCAAAATACAGCATCTGCCCA	0.333																																					p.L776M	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.C2326A						PASS	.						125	120	122					11																	100922186		2203	4300	6503	SO:0001583	missense	5241	exon5			AATACAGCATCTG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2326C>A	11.37:g.100922186G>T	ENSP00000325120:p.Leu776Met	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	199	71	0.356784	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891764	0.52014	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.97620	-4.46;-4.46;-4.46	5.24	2.36	0.29203	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000002	D	0.98526	0.9508	M	0.93808	3.46	0.33891	D	0.637314	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99898	1.1153	10	0.87932	D	0	.	9.8858	0.41260	0.2843:0.0:0.7157:0.0	.	674;776;157	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	M	776;182;674;674	ENSP00000325120:L776M;ENSP00000436561:L182M;ENSP00000263463:L674M	ENSP00000263463:L674M	L	-	1	2	PGR	100427396	1.000000	0.71417	0.972000	0.41901	0.980000	0.70556	0.819000	0.27308	0.220000	0.20860	-0.157000	0.13467	CTG	.	.	none		0.333	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100922186	G	T	100922186	3	4	10	1	0	0	0	0	1	0	0	0	11805	962	34	4	491	4	PGR	11	100922186	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6162460	100922186	34084330	242	2082										
NPAT	4863	hgsc.bcm.edu	37	chr11	108044441	108044441	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgttttaaaggcctttttctGtatgctggtacttatttggg	10	5	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:108044441G>A	ENST00000278612.8	-	13	1375	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	424					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCTTTTTCTGTATGCTGGTA	0.383																																					p.Q424X		Atlas-SNP	.											.	NPAT	124	.	0			c.C1270T						PASS	.						147	138	141					11																	108044441		1860	4091	5951	SO:0001587	stop_gained	4863	exon13			TTTTCTGTATGCT	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1270C>T	11.37:g.108044441G>A	ENSP00000278612:p.Gln424*	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	381	54	0.141732	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Nonsense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409649	0.42715	.	.	ENSG00000149308	ENST00000278612	.	.	.	5.54	5.54	0.83059	.	0.297500	0.30989	N	0.008468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-1.0278	12.4896	0.55893	0.0:0.0:0.8223:0.1777	.	.	.	.	X	424	.	ENSP00000278612:Q424X	Q	-	1	0	NPAT	107549651	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	3.320000	0.51991	2.765000	0.95021	0.557000	0.71058	CAG	.	.	none		0.383	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		A	108044441	G	A	108044441	4	1	10	1	0	0	0	0	0	1	0	0	10566	1386	48	2	3037	2	NPAT	11	108044441	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	7122255	108044441	26962075	243	2083										
FAM55B	120406	hgsc.bcm.edu	37	chr11	114576570	114576571	+	Frame_Shift_Ins	INS	-	-	A													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccccagtggttatactttgINSaaaaaaatgtggattacagc							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:114576570_114576571insA	ENST00000389586.4	+	5	1186_1187	c.996_997insA	c.(997-999)aaafs	p.K333fs	NXPE2_ENST00000375475.5_Intron	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	333						integral component of membrane (GO:0016021)											GTTATACTTTGAAAAAAATGTG	0.322																																					p.L332fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.996_997insA						PASS	.																																			SO:0001589	frameshift_variant	120406	exon5			.	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.1003dupA	11.37:g.114576577_114576577dupA	ENSP00000374237:p.Lys333fs	Somatic	222	.	.		WXS	Illumina HiSeq	Phase_I	256	60	0.234	NM_182495	Q2NKI8	Frame_Shift_Ins	INS	ENST00000389586.4	37	CCDS44738.1																																																																																			.	.	none		0.322	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		A	114576571	-	A	114576570	7	5	10	1	0	1	1	0	0	0	0	0	5585	1281	45	0	1014	0	FAM55B	11	114576570	Frame_Shift_Ins	INS	-	TCGA-FF-8041-01A-11D-2210-10	6532129	114576570	20429946	244	2084										
NLRX1	79671	hgsc.bcm.edu	37	chr11	119045894	119045894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagtggctgagctcgtgggcCgtgttggggaggacgtcagc	19	8	1	1	rs574477974		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:119045894C>T	ENST00000409109.1	+	6	2169	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	NLRX1_ENST00000525863.1_Missense_Mutation_p.R528C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R528C|NLRX1_ENST00000409991.1_Missense_Mutation_p.R528C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R528C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	528	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTCGTGGGCCGTGTTGGGGA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18271	0.0		0.0	False		,,,				2504	0.001				p.R528C		Atlas-SNP	.											.	NLRX1	128	.	0			c.C1582T						PASS	.						145	132	136					11																	119045894		2200	4295	6495	SO:0001583	missense	79671	exon6			GTGGGCCGTGTTG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1582C>T	11.37:g.119045894C>T	ENSP00000387334:p.Arg528Cys	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	125	5	0.04	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703299	0.30232	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.73047	-0.6;-0.6;-0.71;-0.6;-0.71	5.62	4.7	0.59300	.	0.188113	0.38217	N	0.001762	T	0.53610	0.1807	N	0.19112	0.55	0.42859	D	0.994101	B;B	0.19706	0.038;0.005	B;B	0.12156	0.007;0.002	T	0.53851	-0.8380	10	0.87932	D	0	.	8.1864	0.31341	0.2513:0.6692:0.0:0.0795	.	528;528	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	528	ENSP00000386851:R528C;ENSP00000292199:R528C;ENSP00000386858:R528C;ENSP00000387334:R528C;ENSP00000433442:R528C	ENSP00000292199:R528C	R	+	1	0	NLRX1	118551104	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	4.547000	0.60712	1.346000	0.45694	0.561000	0.74099	CGT	.	.	none		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119045894	C	T	119045894	3	4	10	1	0	0	0	0	1	0	0	0	10485	652	23	1	1600	1	NLRX1	11	119045894	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4469324	119045894	15960622	245	2085										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	8	4	1	4	rs142812088		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																					p.F107F		Atlas-SNP	.											OR8B3,NS,carcinoma,0,1	OR8B3	36	1	0			c.T321C						scavenged	.						78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			GATGACAAAAAAG	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G		Somatic	309	16	0.0517799		WXS	Illumina HiSeq	Phase_I	386	16	0.0414508	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	10	1	0	0	0	0	0	0	0	1	11228	127	5	2		2	OR8B3	11	124266927	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	5221033	124266927	10739589	246	2086										
PRMT8	56341	hgsc.bcm.edu	37	chr12	3692249	3692249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggacatttacacagtgaagaCggaagagctatcgttcacat	10	8	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:3692249C>T	ENST00000382622.3	+	8	1244	c.854C>T	c.(853-855)aCg>aTg	p.T285M	PRMT8_ENST00000261252.4_Intron|PRMT8_ENST00000452611.2_Missense_Mutation_p.T276M	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	285	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACAGTGAAGACGGAAGAGCTA	0.517																																					p.T285M		Atlas-SNP	.											PRMT8,NS,carcinoma,-1,3	PRMT8	97	3	0			c.C854T						PASS	.						128	104	112					12																	3692249		2203	4300	6503	SO:0001583	missense	56341	exon8			TGAAGACGGAAGA	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.854C>T	12.37:g.3692249C>T	ENSP00000372067:p.Thr285Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	102	22	0.215686	NM_019854	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530304	0.27387	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78707	-1.2;-1.2	5.4	3.57	0.40892	.	0.202156	0.52532	D	0.000070	T	0.70193	0.3196	L	0.54323	1.7	0.37506	D	0.91696	P;P	0.42649	0.786;0.68	B;B	0.39027	0.288;0.15	T	0.73588	-0.3935	10	0.46703	T	0.11	.	9.2713	0.37673	0.0:0.8267:0.0:0.1733	.	276;285	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	M	276;285	ENSP00000414507:T276M;ENSP00000372067:T285M	ENSP00000372067:T285M	T	+	2	0	PRMT8	3562510	0.988000	0.35896	1.000000	0.80357	0.093000	0.18481	2.678000	0.46900	1.298000	0.44778	-0.142000	0.14014	ACG	.	.	none		0.517	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		T	3692249	C	T	3692249	3	4	10	1	0	0	0	0	1	0	0	0	12542	536	19	1	884	1	PRMT8	12	3692249	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10		3692249	130159646	247	2087										
CHD4	1108	hgsc.bcm.edu	37	chr12	6710854	6710854	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cttgtagttggtgagggttcGataatcctcctctgagaaca	11	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:6710854G>A	ENST00000357008.2	-	5	680	c.517C>T	c.(517-519)Cga>Tga	p.R173*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.R166*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R170*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.R173*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	173					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTGAGGGTTCGATAATCCTCC	0.488																																					p.R173X	Colon(32;586 792 4568 16848 45314)	Atlas-SNP	.											CHD4_ENST00000357008,NS,malignant_melanoma,0,3	CHD4	539	3	0			c.C517T						scavenged	.						274	278	277					12																	6710854		2203	4300	6503	SO:0001587	stop_gained	1108	exon5			GGGTTCGATAATC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.517C>T	12.37:g.6710854G>A	ENSP00000349508:p.Arg173*	Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	221	75	0.339367	NM_001273	Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.145184	0.97324	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	.	.	.	5.87	5.87	0.94306	.	0.228496	0.32081	N	0.006603	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.807	16.49	0.84198	0.0:0.0:0.8686:0.1314	.	.	.	.	X	170;166;173;173;147;173	.	ENSP00000312419:R173X	R	-	1	2	CHD4	6581115	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.382000	0.79729	2.774000	0.95407	0.650000	0.86243	CGA	.	.	none		0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6710854	G	A	6710854	4	1	10	1	0	0	0	0	0	1	0	0	3327	1066	37	1	5365	1	CHD4	12	6710854	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3018605	6710854	127141041	248	2088										
RIMKLB	57494	hgsc.bcm.edu	37	chr12	8926159	8926159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	taccctctggccggctcaccCggcgtatgtccctgctctcc	9	19	3	0	rs201378504		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:8926159C>T	ENST00000538135.1	+	6	1765	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R314W|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R314W			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	314					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.R314W(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGGCTCACCCGGCGTATGTC	0.552																																					p.R314W		Atlas-SNP	.											RIMKLB,colon,carcinoma,0,1	RIMKLB	47	1	1	Substitution - Missense(1)	large_intestine(1)	c.C940T						scavenged	.	C	TRP/ARG	0,3872		0,0,1936	61	64	63		940	4.8	1	12		63	2,8272		0,2,4135	yes	missense	RIMKLB	NM_020734.2	101	0,2,6071	TT,TC,CC		0.0242,0.0,0.0165	probably-damaging	314/387	8926159	2,12144	1936	4137	6073	SO:0001583	missense	57494	exon7			CTCACCCGGCGTA	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.940C>T	12.37:g.8926159C>T	ENSP00000440943:p.Arg314Trp	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	182	2	0.010989	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854515	0.51376	0.0	2.42E-4	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	4.82	0.62117	.	0.069207	0.56097	U	0.000025	T	0.39682	0.1087	L	0.29908	0.895	0.58432	D	0.999994	D	0.58620	0.983	B	0.39738	0.308	T	0.21449	-1.0245	8	.	.	.	.	14.7578	0.69579	0.1458:0.8542:0.0:0.0	.	314	Q9ULI2	RIMKB_HUMAN	W	314	.	.	R	+	1	2	RIMKLB	8817426	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.397000	0.59690	1.387000	0.46486	0.591000	0.81541	CGG	C|0.999;T|0.001	0.001	weak		0.552	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8926159	C	T	8926159	3	4	10	1	0	0	0	0	1	0	0	0	13366	643	23	1	958	1	RIMKLB	12	8926159	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2215305	8926159	124925736	249	2089										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546598	11546598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtgggggtggtccttgtggCtttcctggaggaggtggagg	21	5	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:11546598C>T	ENST00000389362.4	-	3	449	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	138	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597																																					p.K138K		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	0			c.G414A						scavenged	.						241	220	227					12																	11546598		2201	4296	6497	SO:0001819	synonymous_variant	653247	exon3			TTGTGGCTTTCCT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.414G>A	12.37:g.11546598C>T		Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	334	6	0.0179641	NM_006248	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																			.	.	none		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546598	C	T	11546598	2	4	10	1	0	0	0	0	0	0	0	1	12443	796	28	2		2	PRB2	12	11546598	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2620439	11546598	122305297	250	2090										
SYT10	341359	hgsc.bcm.edu	37	chr12	33579301	33579301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaatgctctgtggaagcgtaGtgatgttggaagtcacaggt	14	5	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:33579301G>T	ENST00000228567.3	-	2	577	c.281C>A	c.(280-282)aCt>aAt	p.T94N	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	94					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGGAAGCGTAGTGATGTTGGA	0.423																																					p.T94N		Atlas-SNP	.											.	SYT10	109	.	0			c.C281A						PASS	.						91	90	90					12																	33579301		2203	4300	6503	SO:0001583	missense	341359	exon2			AGCGTAGTGATGT	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.281C>A	12.37:g.33579301G>T	ENSP00000228567:p.Thr94Asn	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	135	21	0.155556	NM_198992	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873133	0.02570	.	.	ENSG00000110975	ENST00000228567	T	0.46451	0.87	4.1	-2.4	0.06583	.	0.459403	0.18019	N	0.154304	T	0.21468	0.0517	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.36615	T	0.2	.	6.502	0.22174	0.0:0.3531:0.4103:0.2366	.	94	Q6XYQ8	SYT10_HUMAN	N	94	ENSP00000228567:T94N	ENSP00000228567:T94N	T	-	2	0	SYT10	33470568	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.030000	0.12308	-0.492000	0.06687	-0.147000	0.13772	ACT	.	.	none		0.423	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		T	33579301	G	T	33579301	3	4	10	1	0	0	0	0	1	0	0	0	15463	1029	36	4	1314	4	SYT10	12	33579301	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	22032703	33579301	100272594	251	2091										
KIF21A	55605	hgsc.bcm.edu	37	chr12	39756911	39756911	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tatgcatacctattacccccGagggaatcctgtagtagtct	8	11	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:39756911G>A	ENST00000361418.5	-	7	1023	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	KIF21A_ENST00000361961.3_Silent_p.L336L|KIF21A_ENST00000395670.3_Silent_p.L336L|KIF21A_ENST00000544797.2_Silent_p.L336L|KIF21A_ENST00000541463.2_Silent_p.L336L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	336	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)	p.L336L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTACCCCCGAGGGAATCCT	0.378																																					p.L336L		Atlas-SNP	.											KIF21A_ENST00000395670,NS,carcinoma,0,2	KIF21A	238	2	1	Substitution - coding silent(1)	endometrium(1)	c.C1008T						scavenged	.						151	148	149					12																	39756911		2203	4300	6503	SO:0001819	synonymous_variant	55605	exon7			ACCCCCGAGGGAA	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1008C>T	12.37:g.39756911G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_001173463	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																			.	.	none		0.378	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39756911	G	A	39756911	2	1	10	1	0	0	0	0	0	0	0	1	8288	1045	37	1		1	KIF21A	12	39756911	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6177610	39756911	94094984	252	2092										
NELL2	4753	hgsc.bcm.edu	37	chr12	44915940	44915940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacagtcacagaccatccgtCgacacataacgaatccattc	5	15	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:44915940C>T	ENST00000429094.2	-	18	2522	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	NELL2_ENST00000395487.2_Missense_Mutation_p.R672Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R673Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R672Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R625Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R723Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R696Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	673	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACCATCCGTCGACACATAAC	0.438																																					p.R723Q		Atlas-SNP	.											NELL2_ENST00000437801,colon,carcinoma,-1,2	NELL2	286	2	0			c.G2168A						scavenged	.						95	87	90					12																	44915940		2203	4300	6503	SO:0001583	missense	4753	exon19			ATCCGTCGACACA	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2018G>A	12.37:g.44915940C>T	ENSP00000390680:p.Arg673Gln	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	64	3	0.046875	NM_001145107	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940970	0.73557	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;T;T;T;D;T;D	0.81821	-1.5;-1.47;-1.18;-1.47;-1.5;-1.43;-1.54	5.7	4.81	0.61882	von Willebrand factor, type C (2);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.53617	1.68	0.58432	D	0.999997	P;P;B;B;B	0.42827	0.539;0.791;0.056;0.009;0.258	B;B;B;B;B	0.28232	0.024;0.087;0.018;0.005;0.053	T	0.69978	-0.4998	10	0.21014	T	0.42	-9.7144	14.8365	0.70187	0.0:0.931:0.0:0.069	.	696;723;625;673;672	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	Q	672;673;625;673;672;696;723	ENSP00000378866:R672Q;ENSP00000390680:R673Q;ENSP00000449332:R625Q;ENSP00000394612:R673Q;ENSP00000447927:R672Q;ENSP00000327988:R696Q;ENSP00000416341:R723Q	ENSP00000327988:R696Q	R	-	2	0	NELL2	43202207	1.000000	0.71417	0.973000	0.42090	0.938000	0.57974	7.814000	0.86154	1.405000	0.46838	0.650000	0.86243	CGA	.	.	none		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	44915940	C	T	44915940	3	4	10	1	0	0	0	0	1	0	0	0	10334	884	31	1	444	1	NELL2	12	44915940	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5159029	44915940	88935955	253	2093										
C12orf44	60673	hgsc.bcm.edu	37	chr12	52467630	52467630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcatcgacttcacttatgtgCgtgtctcttctgaggaactg	9	10	4	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:52467630C>T	ENST00000336854.4	+	3	674	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		66					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACTTATGTGCGTGTCTCTTC	0.542																																					p.R66C		Atlas-SNP	.											C12orf44,caecum,carcinoma,0,1	C12orf44	14	1	0			c.C196T						scavenged	.						218	153	175					12																	52467630		2203	4300	6503	SO:0001583	missense	60673	exon3			TATGTGCGTGTCT																												ENST00000336854.4:c.196C>T	12.37:g.52467630C>T	ENSP00000338990:p.Arg66Cys	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	151	2	0.013245	NM_001098673	Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537495	0.27475	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	5.01	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	L	0.42245	1.32	0.80722	D	1	B	0.26876	0.162	B	0.20955	0.032	T	0.40440	-0.9563	9	0.35671	T	0.21	-12.7953	9.1649	0.37046	0.1594:0.6854:0.1553:0.0	.	66	Q9BSB4	ATGA1_HUMAN	C	66	.	ENSP00000338990:R66C	R	+	1	0	C12orf44	50753897	1.000000	0.71417	0.989000	0.46669	0.557000	0.35523	1.288000	0.33296	2.490000	0.84030	0.462000	0.41574	CGT	.	.	none		0.542	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			T	52467630	C	T	52467630	3	4	10	1	0	0	0	0	1	0	0	0	1690	768	27	1	198	1	C12orf44	12	52467630	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7551690	52467630	81384265	254	2094										
HOXC8	3224	hgsc.bcm.edu	37	chr12	54403503	54403503	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttccatggatgagaccccaCggtgagaagccttttctctt	9	11	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:54403503C>T	ENST00000040584.4	+	1	672	c.435C>T	c.(433-435)caC>caT	p.H145H	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	145					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H145Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGAGACCCCACGGTGAGAAGC	0.552																																					p.H145H	GBM(197;701 2226 7002 18822 41696)	Atlas-SNP	.											HOXC8,NS,carcinoma,0,1	HOXC8	15	1	1	Substitution - Missense(1)	lung(1)	c.C435T						scavenged	.						100	98	99					12																	54403503		2203	4300	6503	SO:0001630	splice_region_variant	3224	exon1			ACCCCACGGTGAG	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.436+1C>T	12.37:g.54403503C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	174	3	0.0172414	NM_022658	A8K4J4|O15221|O15362	Silent	SNP	ENST00000040584.4	37	CCDS8870.1																																																																																			.	.	none		0.552	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2		Silent	T	54403503	C	T	54403503	5	4	10	1	0	0	0	0	0	0	1	0	7316	550	19	1	437	1	HOXC8	12	54403503	Splice_Site	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1935873	54403503	79448392	255	2095										
STAT6	6778	hgsc.bcm.edu	37	chr12	57493818	57493818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggagacagcgtttggtgaggTccaggacaccatcaaaccac	12	11	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:57493818T>C	ENST00000300134.3	-	14	1893	c.1568A>G	c.(1567-1569)gAc>gGc	p.D523G	STAT6_ENST00000454075.3_Missense_Mutation_p.D523G|STAT6_ENST00000543873.2_Missense_Mutation_p.D523G|STAT6_ENST00000556155.1_Missense_Mutation_p.D523G|STAT6_ENST00000538913.2_Missense_Mutation_p.D413G|STAT6_ENST00000537215.2_Missense_Mutation_p.D413G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	523	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TTTGGTGAGGTCCAGGACACC	0.612																																					p.D523G		Atlas-SNP	.											.	STAT6	69	.	0			c.A1568G						PASS	.						93	73	80					12																	57493818		2203	4300	6503	SO:0001583	missense	6778	exon14			GTGAGGTCCAGGA	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1568A>G	12.37:g.57493818T>C	ENSP00000300134:p.Asp523Gly	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	152	56	0.368421	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527568	0.85706	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.92	4.92	0.64577	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);SH2 motif (1);EF-hand-like domain (1);	0.055888	0.64402	D	0.000001	D	0.92766	0.7700	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.984;0.993	D	0.93346	0.6714	10	0.87932	D	0	-25.2637	12.5465	0.56203	0.0:0.0:0.0:1.0	.	523;523	A8K4S9;P42226	.;STAT6_HUMAN	G	523;413;413;523;523;413;523;413;523;89	ENSP00000300134:D523G;ENSP00000445409:D413G;ENSP00000438451:D523G;ENSP00000451742:D523G;ENSP00000444530:D413G;ENSP00000401486:D523G;ENSP00000450921:D89G	ENSP00000300134:D523G	D	-	2	0	STAT6	55780085	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.810000	0.86072	2.062000	0.61559	0.533000	0.62120	GAC	.	.	none		0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		C	57493818	T	C	57493818	3	2	10	1	0	0	0	0	1	0	0	0	15269	1667	58	2	1011	2	STAT6	12	57493818	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3090315	57493818	76358077	256	2096										
BEST3	144453	hgsc.bcm.edu	37	chr12	70087575	70087575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtccttctaagcaggcgcccGtgctcgtcgcttccgtgaac	11	15	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:70087575G>A	ENST00000330891.5	-	4	586	c.360C>T	c.(358-360)caC>caT	p.H120H	BEST3_ENST00000266661.4_Silent_p.H14H|BEST3_ENST00000553096.1_Silent_p.H14H|BEST3_ENST00000551160.1_Silent_p.H14H|BEST3_ENST00000331471.4_Silent_p.H120H|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.H14H|BEST3_ENST00000476098.1_De_novo_Start_OutOfFrame	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	120					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGGCGCCCGTGCTCGTCGC	0.532																																					p.H120H		Atlas-SNP	.											.	BEST3	129	.	0			c.C360T						PASS	.						103	89	93					12																	70087575		2203	4300	6503	SO:0001819	synonymous_variant	144453	exon4			GCGCCCGTGCTCG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.360C>T	12.37:g.70087575G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	162	60	0.37037	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	CCDS8992.2																																																																																			.	.	none		0.532	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		A	70087575	G	A	70087575	2	1	10	1	0	0	0	0	0	0	0	1	1406	1136	40	1		1	BEST3	12	70087575	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12593757	70087575	63764320	257	2097										
CNOT2	4848	hgsc.bcm.edu	37	chr12	70724236	70724236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agcagccttctcgacagcctTttactgtgaacaggtaagat	9	10	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:70724236T>C	ENST00000418359.3	+	7	1007	c.556T>C	c.(556-558)Ttt>Ctt	p.F186L	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.F186L	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	186					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCGACAGCCTTTTACTGTGAA	0.413																																					p.F186L		Atlas-SNP	.											CNOT2,NS,carcinoma,-2,1	CNOT2	53	1	0			c.T556C						scavenged	.						133	124	127					12																	70724236		2203	4300	6503	SO:0001583	missense	4848	exon7			CAGCCTTTTACTG	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.556T>C	12.37:g.70724236T>C	ENSP00000412091:p.Phe186Leu	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	210	3	0.0142857	NM_001199302	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	T	8.643	0.896369	0.17686	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.57911	-0.7729	10	0.14252	T	0.57	-6.1986	15.6247	0.76845	0.0:0.0:0.0:1.0	.	186	Q9NZN8	CNOT2_HUMAN	L	186;186;186;166;177;186;101;186	ENSP00000450318:F186L;ENSP00000229195:F186L;ENSP00000412091:F186L;ENSP00000448024:F166L;ENSP00000449659:F177L;ENSP00000449260:F186L;ENSP00000450090:F101L;ENSP00000449446:F186L	ENSP00000229195:F186L	F	+	1	0	CNOT2	69010503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.147000	0.66899	0.455000	0.32223	TTT	.	.	none		0.413	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			C	70724236	T	C	70724236	3	2	10	1	0	0	0	0	1	0	0	0	3619	1841	64	2	574	2	CNOT2	12	70724236	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	636661	70724236	63127659	258	2098										
ACSS3	79611	hgsc.bcm.edu	37	chr12	81472143	81472143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggttctggggcaaagctgccGagcagatcagctggtacaag	15	9	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:81472143G>A	ENST00000548058.1	+	1	1154	c.244G>A	c.(244-246)Gag>Aag	p.E82K	ACSS3_ENST00000261206.3_Missense_Mutation_p.E82K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	82						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAAAGCTGCCGAGCAGATCAG	0.617																																					p.E82K		Atlas-SNP	.											.	ACSS3	118	.	0			c.G244A						PASS	.						46	43	44					12																	81472143		1984	4018	6002	SO:0001583	missense	79611	exon1			GCTGCCGAGCAGA		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.244G>A	12.37:g.81472143G>A	ENSP00000449535:p.Glu82Lys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	56	20	0.357143	NM_024560	Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857542	0.17106	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10960	2.82;2.82	5.03	4.11	0.48088	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.506389	0.20979	N	0.082246	T	0.04407	0.0121	N	0.04636	-0.2	0.80722	D	1	P	0.39520	0.676	B	0.35413	0.202	T	0.49093	-0.8975	10	0.11182	T	0.66	-23.7543	11.5895	0.50938	0.0:0.3487:0.6513:0.0	.	82	Q9H6R3	ACSS3_HUMAN	K	82	ENSP00000449535:E82K;ENSP00000261206:E82K	ENSP00000261206:E82K	E	+	1	0	ACSS3	79996274	0.962000	0.33011	0.863000	0.33907	0.385000	0.30292	1.612000	0.36889	1.292000	0.44672	0.655000	0.94253	GAG	.	.	none		0.617	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		A	81472143	G	A	81472143	3	1	10	1	0	0	0	0	1	0	0	0	190	1059	37	1	246	1	ACSS3	12	81472143	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	10747907	81472143	52379752	259	2099										
PLXNC1	10154	hgsc.bcm.edu	37	chr12	94543629	94543629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccgacggccgccgcctgctCctctcctccagcctagtgga	10	20	1	0	rs560001465	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:94543629C>T	ENST00000258526.4	+	1	1131	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	294	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						GCCGCCTGCTCCTCTCCTCCA	0.746													C|||	4	0.000798722	0.0	0.0	5008	,	,		13674	0.0		0.0	False		,,,				2504	0.0041				p.L294L		Atlas-SNP	.											.	PLXNC1	135	.	0			c.C882T						PASS	.						5	7	6					12																	94543629		2040	4096	6136	SO:0001819	synonymous_variant	10154	exon1			CCTGCTCCTCTCC	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.882C>T	12.37:g.94543629C>T		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	9	6	0.666667	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																			.	.	none		0.746	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94543629	C	T	94543629	2	4	10	1	0	0	0	0	0	0	0	1	12126	842	30	2		2	PLXNC1	12	94543629	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13071486	94543629	39308266	260	2100										
ANKS1B	56899	hgsc.bcm.edu	37	chr12	99640284	99640284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctctccacaaatccccctgcGttcataacccactggtcccc	4	20	2	0	rs367637188		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:99640284G>A	ENST00000547776.2	-	13	2114	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Silent_p.N285N|ANKS1B_ENST00000329257.7_Silent_p.N705N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	705						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.N705K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATCCCCCTGCGTTCATAACCC	0.448																																					p.N705N		Atlas-SNP	.											ANKS1B,NS,carcinoma,0,1	ANKS1B	180	1	1	Substitution - Missense(1)	lung(1)	c.C2115T						scavenged	.	G		0,3802		0,0,1901	125	120	121		2115	0.1	0.1	12		121	1,8241		0,1,4120	no	coding-synonymous	ANKS1B	NM_152788.4		0,1,6021	AA,AG,GG		0.0121,0.0,0.0083		705/1249	99640284	1,12043	1901	4121	6022	SO:0001819	synonymous_variant	56899	exon13			CCCTGCGTTCATA	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2115C>T	12.37:g.99640284G>A		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	340	4	0.0117647	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1																																																																																			.	.	weak		0.448	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	99640284	G	A	99640284	2	1	10	1	0	0	0	0	0	0	0	1	689	1136	40	1		1	ANKS1B	12	99640284	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5096655	99640284	34211611	261	2101										
HSP90B1	7184	hgsc.bcm.edu	37	chr12	104335448	104335448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcacagacgacttccatgaTatgatgcctaaatacctcaa	5	11	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:104335448T>C	ENST00000299767.5	+	10	1454	c.1272T>C	c.(1270-1272)gaT>gaC	p.D424D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	424					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACTTCCATGATATGATGCCTA	0.408																																					p.D424D		Atlas-SNP	.											HSP90B1,NS,carcinoma,+1,1	HSP90B1	72	1	0			c.T1272C						scavenged	.						133	125	128					12																	104335448		2203	4300	6503	SO:0001819	synonymous_variant	7184	exon10			CCATGATATGATG	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1272T>C	12.37:g.104335448T>C		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	363	4	0.0110193	NM_003299	Q96A97	Silent	SNP	ENST00000299767.5	37	CCDS9094.1																																																																																			.	.	none		0.408	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		C	104335448	T	C	104335448	2	2	10	1	0	0	0	0	0	0	0	1	7403	1403	49	2		2	HSP90B1	12	104335448	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	4695164	104335448	29516447	262	2102										
UBE3B	89910	hgsc.bcm.edu	37	chr12	109940887	109940887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggaatattctcaggcctgtcGggggtaaacgggtcgactct	14	9	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:109940887G>A	ENST00000342494.3	+	14	1937	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	UBE3B_ENST00000280774.5_Missense_Mutation_p.G448R|UBE3B_ENST00000434735.2_Missense_Mutation_p.G448R|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	448					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G448R(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGGCCTGTCGGGGGTAAACG	0.522																																					p.G448R		Atlas-SNP	.											UBE3B,rectum,carcinoma,0,1	UBE3B	116	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1342A						scavenged	.						121	115	117					12																	109940887		2203	4300	6503	SO:0001583	missense	89910	exon14			CCTGTCGGGGGTA	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1342G>A	12.37:g.109940887G>A	ENSP00000340596:p.Gly448Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_130466	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161550	0.94727	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.45668	1.24;0.89;1.49;1.24	5.81	5.81	0.92471	.	0.044702	0.85682	N	0.000000	T	0.48370	0.1496	M	0.63428	1.95	0.80722	D	1	D	0.60575	0.988	P	0.44696	0.458	T	0.53358	-0.8450	10	0.66056	D	0.02	-7.5618	18.6619	0.91474	0.0:0.0:1.0:0.0	.	448	Q7Z3V4	UBE3B_HUMAN	R	448	ENSP00000391529:G448R;ENSP00000280774:G448R;ENSP00000443131:G448R;ENSP00000340596:G448R	ENSP00000280774:G448R	G	+	1	0	UBE3B	108425270	1.000000	0.71417	0.956000	0.39512	0.932000	0.56968	8.952000	0.93031	2.741000	0.93983	0.655000	0.94253	GGG	.	.	none		0.522	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		A	109940887	G	A	109940887	3	1	10	1	0	0	0	0	1	0	0	0	16877	1116	39	1	1388	1	UBE3B	12	109940887	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5605439	109940887	23911008	263	2103										
MED13L	23389	hgsc.bcm.edu	37	chr12	116413345	116413345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggtaaagcaatatttacaaCgcaggtctctaataattccc	6	9	1	0	rs182752795	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:116413345C>T	ENST00000281928.3	-	24	5769	c.5563G>A	c.(5563-5565)Gtt>Att	p.V1855I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1855						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATATTTACAACGCAGGTCTCT	0.418													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19304	0.001		0.0	False		,,,				2504	0.0				p.V1855I		Atlas-SNP	.											MED13L,colon,carcinoma,0,1	MED13L	193	1	0			c.G5563A						scavenged	.						65	61	62					12																	116413345		2203	4300	6503	SO:0001583	missense	23389	exon24			TTACAACGCAGGT	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5563G>A	12.37:g.116413345C>T	ENSP00000281928:p.Val1855Ile	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	169	3	0.0177515	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	5.802|5.802	0.332346|0.332346	0.10956|0.10956	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.82344	.|-1.6	5.86|5.86	-0.741|-0.741	0.11112|0.11112	.|.	.|0.306722	.|0.39475	.|N	.|0.001356	T|T	0.53384|0.53384	0.1793|0.1793	N|N	0.02129|0.02129	-0.67|-0.67	0.32347|0.32347	N|N	0.558907|0.558907	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.54364|0.54364	-0.8305|-0.8305	5|10	.|0.02654	.|T	.|1	-3.037|-3.037	12.0632|12.0632	0.53574|0.53574	0.0:0.4747:0.0:0.5253|0.0:0.4747:0.0:0.5253	.|.	.|1855	.|Q71F56	.|MD13L_HUMAN	H|I	47|1855	.|ENSP00000281928:V1855I	.|ENSP00000281928:V1855I	R|V	-|-	2|1	0|0	MED13L|MED13L	114897728|114897728	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.995000|0.995000	0.86356|0.86356	1.907000|1.907000	0.39897|0.39897	-0.275000|-0.275000	0.09219|0.09219	-0.145000|-0.145000	0.13849|0.13849	CGT|GTT	C|1.000;T|0.000	0.000	strong		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116413345	C	T	116413345	3	4	10	1	0	0	0	0	1	0	0	0	9431	536	19	1	1101	1	MED13L	12	116413345	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6472458	116413345	17438550	264	2104										
CCDC64	92558	hgsc.bcm.edu	37	chr12	120518805	120518805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agaaggccatcagggaccgcGacgaggccattgcaaagtga	14	10	1	2	rs373363052		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:120518805G>A	ENST00000397558.2	+	7	1423	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	CCDC64_ENST00000446727.2_Missense_Mutation_p.D146N|CCDC64_ENST00000257583.4_Missense_Mutation_p.D172N	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	475					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGGACCGCGACGAGGCCAT	0.438																																					p.D475N		Atlas-SNP	.											.	CCDC64	40	.	0			c.G1423A						PASS	.	G	ASN/ASP	0,4044		0,0,2022	70	79	76		1423	5.3	1	12		76	1,8361		0,1,4180	no	missense	CCDC64	NM_207311.2	23	0,1,6202	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	475/574	120518805	1,12405	2022	4181	6203	SO:0001583	missense	92558	exon7			GACCGCGACGAGG	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1423G>A	12.37:g.120518805G>A	ENSP00000380690:p.Asp475Asn	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	29	9	0.310345	NM_207311	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417810	0.96092	0.0	1.2E-4	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.04862	3.56;3.6;3.54	5.32	5.32	0.75619	.	529.136000	0.00166	N	0.000000	T	0.35038	0.0918	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.00699	-1.1604	10	0.87932	D	0	-12.8386	18.9942	0.92806	0.0:0.0:1.0:0.0	.	172;146;475	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	N	475;146;193;172	ENSP00000380690:D475N;ENSP00000399658:D146N;ENSP00000447477:D193N	ENSP00000257583:D172N	D	+	1	0	CCDC64	119003188	1.000000	0.71417	0.955000	0.39395	0.944000	0.59088	9.731000	0.98807	2.492000	0.84095	0.561000	0.74099	GAC	.	.	weak		0.438	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		A	120518805	G	A	120518805	3	1	10	1	0	0	0	0	1	0	0	0	2835	1058	37	1	1449	1	CCDC64	12	120518805	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4105460	120518805	13333090	265	2105										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124395178	124395178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttgttgaagctgtaatgggcTactgtgatgttttcagagaa	12	4	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:124395178T>C	ENST00000409039.3	+	58	9764	c.9739T>C	c.(9739-9741)Tac>Cac	p.Y3247H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3247	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTAATGGGCTACTGTGATGT	0.463																																					p.Y3247H		Atlas-SNP	.											DNAH10_same_name,NS,carcinoma,-2,2	DNAH10	888	2	0			c.T9739C						scavenged	.						89	92	91					12																	124395178		1942	4135	6077	SO:0001583	missense	196385	exon58			ATGGGCTACTGTG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9739T>C	12.37:g.124395178T>C	ENSP00000386770:p.Tyr3247His	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	93	2	0.0215054	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224128	0.79576	.	.	ENSG00000197653	ENST00000409039	T	0.75050	-0.9	4.96	4.96	0.65561	Dynein heavy chain, coiled coil stalk (1);	0.142976	0.49305	D	0.000158	D	0.90865	0.7130	H	0.97340	3.985	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.93972	0.7250	10	0.87932	D	0	.	14.632	0.68663	0.0:0.0:0.0:1.0	.	3247	Q8IVF4	DYH10_HUMAN	H	3247	ENSP00000386770:Y3247H	ENSP00000386770:Y3247H	Y	+	1	0	DNAH10	122961131	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.774000	0.85478	1.867000	0.54127	0.533000	0.62120	TAC	.	.	none		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124395178	T	C	124395178	3	2	10	1	0	0	0	0	1	0	0	0	4598	1522	53	3	9969	3	DNAH10	12	124395178	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3876373	124395178	9456717	266	2106										
GPR133	283383	hgsc.bcm.edu	37	chr12	131439191	131439191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgtggcgtctactccagatCgcaggaccatccaggtaaga	12	12	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr12:131439191C>T	ENST00000261654.5	+	2	648	c.89C>T	c.(88-90)tCg>tTg	p.S30L	GPR133_ENST00000535015.1_Missense_Mutation_p.S30L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	30					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S30*(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TACTCCAGATCGCAGGACCAT	0.567																																					p.S30L		Atlas-SNP	.											GPR133,colon,carcinoma,0,2	GPR133	136	2	1	Substitution - Nonsense(1)	large_intestine(1)	c.C89T						scavenged	.						114	97	103					12																	131439191		2203	4300	6503	SO:0001583	missense	283383	exon2			CCAGATCGCAGGA	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.89C>T	12.37:g.131439191C>T	ENSP00000261654:p.Ser30Leu	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	275	3	0.0109091	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096582	0.20552	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	T;T	0.40476	1.03;1.03	4.42	1.41	0.22369	.	2.349640	0.01850	N	0.035877	T	0.35828	0.0945	L	0.46157	1.445	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.09250	-1.0683	10	0.17832	T	0.49	.	5.7384	0.18079	0.0:0.521:0.0:0.479	.	30;30	B7ZLF7;Q6QNK2	.;GP133_HUMAN	L	30	ENSP00000261654:S30L;ENSP00000444425:S30L	ENSP00000261654:S30L	S	+	2	0	GPR133	130005144	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.366000	0.20365	0.276000	0.22118	-0.258000	0.10820	TCG	.	.	none		0.567	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131439191	C	T	131439191	3	4	10	1	0	0	0	0	1	0	0	0	6643	893	31	1	95	1	GPR133	12	131439191	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7044013	131439191	2412704	267	2107										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751301	19751301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccttctcggctgagatgacCggggcgtaggtggccagggg	19	10	1	2	rs140548354		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAGATGACCGGGGCGTAGG	0.607																																					p.P274P		Atlas-SNP	.											TUBA3C,bladder,carcinoma,-2,1	TUBA3C	166	1	0			c.G822A						scavenged	.						123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GATGACCGGGGCG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.822G>A	13.37:g.19751301C>T		Somatic	226	9	0.039823		WXS	Illumina HiSeq	Phase_I	241	11	0.0456432	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			C|0.999;T|0.001	0.001	weak		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	10	1	0	0	0	0	0	0	0	1	16743	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10		19751301	95418577	268	2108										
ATP12A	479	hgsc.bcm.edu	37	chr13	25283889	25283889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacaagagggctttctgcccCgcactctcattaacctgcgg	9	15	2	1	rs376963957		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:25283889C>A	ENST00000381946.3	+	19	2853	c.2686C>A	c.(2686-2688)Cgc>Agc	p.R896S	ATP12A_ENST00000218548.6_Missense_Mutation_p.R902S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	896					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTTTCTGCCCCGCACTCTCAT	0.532																																					p.R902S	Pancreas(156;1582 1935 18898 22665 26498)	Atlas-SNP	.											ATP12A,colon,carcinoma,-1,1	ATP12A	172	1	0			c.C2704A						scavenged	.						137	135	136					13																	25283889		2203	4300	6503	SO:0001583	missense	479	exon19			CTGCCCCGCACTC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2686C>A	13.37:g.25283889C>A	ENSP00000371372:p.Arg896Ser	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	220	3	0.0136364	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	1.043	-0.678193	0.03378	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88586	-2.4;-2.4	6.03	-1.97	0.07503	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.216330	0.05322	N	0.526781	T	0.63331	0.2502	N	0.00788	-1.185	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57335	-0.7829	10	0.14656	T	0.56	.	1.2614	0.02002	0.2377:0.1459:0.3545:0.2619	.	902;896	P54707-2;P54707	.;AT12A_HUMAN	S	902;896	ENSP00000218548:R902S;ENSP00000371372:R896S	ENSP00000218548:R902S	R	+	1	0	ATP12A	24181889	0.000000	0.05858	0.026000	0.17262	0.003000	0.03518	-0.317000	0.08060	-0.268000	0.09312	-1.104000	0.02111	CGC	.	.	alt		0.532	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25283889	C	A	25283889	3	1	10	1	0	0	0	0	1	0	0	0	1122	652	23	4	2778	4	ATP12A	13	25283889	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5532588	25283889	89885989	269	2109										
NBEA	26960	hgsc.bcm.edu	37	chr13	35691562	35691562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttgttctagatggtccccggCcatcacaaaaagaaattata	7	9	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:35691562C>T	ENST00000400445.3	+	14	2548	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	NBEA_ENST00000540320.1_Missense_Mutation_p.P672S|NBEA_ENST00000379939.2_Missense_Mutation_p.P672S|NBEA_ENST00000310336.4_Missense_Mutation_p.P672S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	672					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTCCCCGGCCATCACAAAA	0.269																																					p.P672S		Atlas-SNP	.											.	NBEA	340	.	0			c.C2014T						PASS	.						4	4	4					13																	35691562		1566	3452	5018	SO:0001583	missense	26960	exon14			CCCCGGCCATCAC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2014C>T	13.37:g.35691562C>T	ENSP00000383295:p.Pro672Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	120	22	0.183333	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106573	0.77096	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73062	-0.4101	10	0.62326	D	0.03	.	16.7133	0.85391	0.0:1.0:0.0:0.0	.	672	Q5T321	.	S	672	ENSP00000440951:P672S;ENSP00000383295:P672S;ENSP00000369271:P672S;ENSP00000308534:P672S	ENSP00000308534:P672S	P	+	1	0	NBEA	34589562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.265000	0.78442	1.929000	0.55896	0.460000	0.39030	CCA	.	.	none		0.269	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35691562	C	T	35691562	3	4	10	1	0	0	0	0	1	0	0	0	10187	739	26	2	2068	2	NBEA	13	35691562	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	10407673	35691562	79478316	270	2110										
ELF1	1997	hgsc.bcm.edu	37	chr13	41507882	41507882	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acggttccattgcaaatggtCtgaacattgctagtaaggac	10	8	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:41507882C>T	ENST00000239882.3	-	9	1853	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.Q489Q	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGCAAATGGTCTGAACATTGC	0.517																																					p.Q513Q		Atlas-SNP	.											ELF1,NS,carcinoma,-2,1	ELF1	65	1	0			c.G1539A						PASS	.						108	104	106					13																	41507882		2203	4300	6503	SO:0001819	synonymous_variant	1997	exon9			AATGGTCTGAACA	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1539G>A	13.37:g.41507882C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	137	62	0.452555	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	CCDS9374.1																																																																																			.	.	none		0.517	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		T	41507882	C	T	41507882	2	4	10	1	0	0	0	0	0	0	0	1	5053	912	32	2		2	ELF1	13	41507882	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5816320	41507882	73661996	271	2111										
DACH1	1602	hgsc.bcm.edu	37	chr13	72440219	72440219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcttcagcttggtgtagaccGtatgcaagccccccaccaag	10	14	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:72440219G>C	ENST00000359684.2	-	1	688	c.689C>G	c.(688-690)aCg>aGg	p.T230R	DACH1_ENST00000354591.4_Missense_Mutation_p.T230R|DACH1_ENST00000305425.4_Missense_Mutation_p.T230R|DACH1_ENST00000313174.7_Missense_Mutation_p.T230R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	230	DACHbox-N.|Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.T230fs*6(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTGTAGACCGTATGCAAGCC	0.617																																					p.T230R		Atlas-SNP	.											.	DACH1	123	.	1	Deletion - Frameshift(1)	lung(1)	c.C689G						PASS	.						79	85	83					13																	72440219		2070	4222	6292	SO:0001583	missense	1602	exon1			TAGACCGTATGCA	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.689C>G	13.37:g.72440219G>C	ENSP00000352712:p.Thr230Arg	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	133	66	0.496241	NM_080759	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37		.	.	.	.	.	.	.	.	.	.	G	18.36	3.606479	0.66445	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.92697	0.6171	10	0.87932	D	0	-6.469	15.8733	0.79141	0.0:0.0:1.0:0.0	.	228;228;228	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	R	230	ENSP00000304994:T230R;ENSP00000318506:T230R;ENSP00000346604:T230R;ENSP00000352712:T230R	ENSP00000304994:T230R	T	-	2	0	DACH1	71338220	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.144000	0.94629	1.803000	0.52742	0.313000	0.20887	ACG	.	.	none		0.617	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		C	72440219	G	C	72440219	3	2	10	1	0	0	0	0	1	0	0	0	4220	1145	40	4	1481	4	DACH1	13	72440219	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	30932337	72440219	42729659	272	2112										
MYCBP2	23077	hgsc.bcm.edu	37	chr13	77657173	77657173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gataccaaaattacctcaggGccatttgctgtaatgaactg	8	9	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:77657173G>A	ENST00000544440.2	-	63	10933	c.10916C>T	c.(10915-10917)gCc>gTc	p.A3639V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A3639V|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A3677V|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCAGGGCCATTTGCTG	0.423																																					p.A3677V		Atlas-SNP	.											.	MYCBP2	1029	.	0			c.C11030T						PASS	.						130	126	127					13																	77657173		2203	4300	6503	SO:0001583	missense	23077	exon63			CTCAGGGCCATTT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10916C>T	13.37:g.77657173G>A	ENSP00000444596:p.Ala3639Val	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	141	56	0.397163	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.795732	0.90453	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.69806	-0.43;-0.43;-0.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	L	0.55213	1.73	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.80879	-0.1185	10	0.87932	D	0	.	19.165	0.93553	0.0:0.0:1.0:0.0	.	3639	O75592	MYCB2_HUMAN	V	3639;3677;3639	ENSP00000349892:A3639V;ENSP00000384288:A3677V;ENSP00000444596:A3639V	ENSP00000349892:A3639V	A	-	2	0	MYCBP2	76555174	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.869000	0.99810	2.504000	0.84457	0.650000	0.86243	GCC	.	.	none		0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		A	77657173	G	A	77657173	3	1	10	1	0	0	0	0	1	0	0	0	10018	1203	42	2	3090	2	MYCBP2	13	77657173	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5216954	77657173	37512705	273	2113										
CUL4A	8451	hgsc.bcm.edu	37	chr13	113909104	113909104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgaggagataaaaatggccaCggggataggtacgaaaactg	14	5	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr13:113909104C>T	ENST00000375440.4	+	17	1934	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	CUL4A_ENST00000451881.1_Missense_Mutation_p.T517M|CUL4A_ENST00000375441.3_Missense_Mutation_p.T517M|CUL4A_ENST00000326335.4_Missense_Mutation_p.T517M	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	617					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAAATGGCCACGGGGATAGGT	0.453																																					p.T617M		Atlas-SNP	.											CUL4A,NS,carcinoma,0,1	CUL4A	50	1	0			c.C1850T						scavenged	.						98	95	96					13																	113909104		2203	4300	6503	SO:0001583	missense	8451	exon17			TGGCCACGGGGAT	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1850C>T	13.37:g.113909104C>T	ENSP00000364589:p.Thr617Met	Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	70	17	0.242857	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605273	0.66445	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.3	5.3	0.74995	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.93689	0.7005	10	0.87932	D	0	-30.3978	19.3097	0.94182	0.0:1.0:0.0:0.0	.	617;617	Q13619;A8MSH7	CUL4A_HUMAN;.	M	517;517;517;617	ENSP00000364590:T517M;ENSP00000389118:T517M;ENSP00000322132:T517M;ENSP00000364589:T617M	ENSP00000322132:T517M	T	+	2	0	CUL4A	112957105	1.000000	0.71417	0.952000	0.39060	0.144000	0.21451	5.880000	0.69698	2.627000	0.88993	0.561000	0.74099	ACG	.	.	none		0.453	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		T	113909104	C	T	113909104	3	4	10	1	0	0	0	0	1	0	0	0	4057	536	19	1	1916	1	CUL4A	13	113909104	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	36251931	113909104	1260774	274	2114										
TEP1	7011	hgsc.bcm.edu	37	chr14	20848107	20848107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acctgccaagttctcaggtcCaacaggtaaactgtcccatt	7	13	1	0	rs563568149		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:20848107C>T	ENST00000262715.5	-	35	5149	c.5109G>A	c.(5107-5109)ttG>ttA	p.L1703L	TEP1_ENST00000556935.1_Silent_p.L1595L|TEP1_ENST00000545983.1_Silent_p.L41L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1703					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)		TTCTCAGGTCCAACAGGTAAA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20605	0.001		0.0	False		,,,				2504	0.0				p.L1703L		Atlas-SNP	.											TEP1,NS,carcinoma,0,1	TEP1	224	1	0			c.G5109A						scavenged	.						71	70	70					14																	20848107		2203	4300	6503	SO:0001819	synonymous_variant	7011	exon35			CAGGTCCAACAGG		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.5109G>A	14.37:g.20848107C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	106	2	0.0188679	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			.	.	none		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20848107	C	T	20848107	2	4	10	1	0	0	0	0	0	0	0	1	15756	593	21	2		2	TEP1	14	20848107	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10		20848107	86501433	275	2115										
MYH6	4624	hgsc.bcm.edu	37	chr14	23865523	23865523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctatcttcttgaactcaatgCgcatgagctggccccgggct	10	13	3	2	rs535438755		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:23865523C>T	ENST00000356287.3	-	19	2428	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	MYH6_ENST00000405093.3_Missense_Mutation_p.R800H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	800	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAACTCAATGCGCATGAGCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18438	0.0		0.0	False		,,,				2504	0.001				p.R800H		Atlas-SNP	.											MYH6,NS,carcinoma,-1,1	MYH6	274	1	0			c.G2399A						PASS	.						101	89	93					14																	23865523		2203	4300	6503	SO:0001583	missense	4624	exon20			TCAATGCGCATGA	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2399G>A	14.37:g.23865523C>T	ENSP00000348634:p.Arg800His	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	136	63	0.463235	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.991779	0.74703	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.77098	-1.07;-1.07	4.78	4.78	0.61160	.	.	.	.	.	D	0.91915	0.7440	H	0.96365	3.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.94612	0.7805	9	0.87932	D	0	.	18.1704	0.89743	0.0:1.0:0.0:0.0	.	800	P13533	MYH6_HUMAN	H	800	ENSP00000386041:R800H;ENSP00000348634:R800H	ENSP00000348634:R800H	R	-	2	0	MYH6	22935363	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.522000	0.81844	2.382000	0.81193	0.650000	0.86243	CGC	.	.	none		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23865523	C	T	23865523	3	4	10	1	0	0	0	0	1	0	0	0	10038	768	27	1	3500	1	MYH6	14	23865523	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3017416	23865523	83484017	276	2116										
PRKD1	5587	hgsc.bcm.edu	37	chr14	30046446	30046446	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gattataggagatggaactcAgaggatgctgacacgctcac	12	8	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:30046446A>T	ENST00000331968.5	-	18	2966	c.2737T>A	c.(2737-2739)Tga>Aga	p.*913R	PRKD1_ENST00000415220.2_Nonstop_Mutation_p.*921R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	0					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GATGGAACTCAGAGGATGCTG	0.443																																					p.X913R		Atlas-SNP	.											.	PRKD1	316	.	0			c.T2737A						PASS	.						99	87	91					14																	30046446		2203	4300	6503	SO:0001578	stop_lost	5587	exon18			GAACTCAGAGGAT		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2737T>A	14.37:g.30046446A>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	205	49	0.239024	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076302	0.76415	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	R	913;921	.	.	X	-	1	0	PRKD1	29116197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.300000	0.96151	2.308000	0.77769	0.533000	0.62120	TGA	.	.	none		0.443	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30046446	A	T	30046446	4	4	10	1	0	0	0	0	0	0	0	0	12518	201	7	5	5	5	PRKD1	14	30046446	Nonstop_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	6180923	30046446	77303094	277	2117										
PRKD1	5587	hgsc.bcm.edu	37	chr14	30046591	30046591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttctcccacctcaggtcatcActttcatgggtgatgtagcg	9	12	5	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:30046591A>G	ENST00000331968.5	-	18	2821	c.2592T>C	c.(2590-2592)agT>agC	p.S864S	PRKD1_ENST00000415220.2_Silent_p.S872S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	864					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGGTCATCACTTTCATGGG	0.498																																					p.S864S		Atlas-SNP	.											.	PRKD1	316	.	0			c.T2592C						PASS	.						145	128	134					14																	30046591		2203	4300	6503	SO:0001819	synonymous_variant	5587	exon18			GTCATCACTTTCA		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2592T>C	14.37:g.30046591A>G		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	189	37	0.195767	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																			.	.	none		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		G	30046591	A	G	30046591	2	3	10	1	0	0	0	0	0	0	0	1	12518	156	6	2		2	PRKD1	14	30046591	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	145	30046591	77302949	278	2118										
C14orf126	112487	hgsc.bcm.edu	37	chr14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgcccgggcctgaggaatccGgctaccctcagccatggctt	12	16	1	1	rs17097904	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W|DTD2_ENST00000356180.4_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																					p.R6W		Atlas-SNP	.											C14orf126,third_ventricle,glioma,0,2	.	.	2	1	Substitution - Missense(1)	skin(1)	c.C16T						scavenged	.						12	12	12					14																	31926584		2183	4278	6461	SO:0001583	missense	112487	exon1			GAATCCGGCTACC	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	48	8	0.166667	NM_080664	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG	.	.	weak		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31926584	G	A	31926584	3	1	10	1	0	0	0	0	1	0	0	0	1743	1115	39	1	502	1	C14orf126	14	31926584	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1879993	31926584	75422956	279	2119										
C14orf37	145407	hgsc.bcm.edu	37	chr14	58598352	58598352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtgcaggggaaatgctgggtTcccccaccattattccagga	12	11	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:58598352T>C	ENST00000267485.7	-	4	1903	c.1709A>G	c.(1708-1710)gAa>gGa	p.E570G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	570						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						AATGCTGGGTTCCCCCACCAT	0.493																																					p.E570G		Atlas-SNP	.											C14orf37,NS,carcinoma,-1,1	C14orf37	87	1	0			c.A1709G						PASS	.						114	107	109					14																	58598352		2203	4300	6503	SO:0001583	missense	145407	exon4			CTGGGTTCCCCCA		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.1709A>G	14.37:g.58598352T>C	ENSP00000267485:p.Glu570Gly	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	110	40	0.363636	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	5.939	0.357220	0.11239	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.18338	2.22	5.78	-2.62	0.06152	.	1.333660	0.04700	N	0.415699	T	0.10252	0.0251	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26400	0.039;0.148;0.039;0.039	B;B;B;B	0.24394	0.023;0.053;0.023;0.023	T	0.28038	-1.0056	10	0.32370	T	0.25	0.0768	4.1407	0.10191	0.2759:0.0:0.3626:0.3615	.	608;570;570;570	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	G	570;608	ENSP00000267485:E570G	ENSP00000267485:E570G	E	-	2	0	C14orf37	57668105	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.036000	0.13819	-0.865000	0.04073	-0.219000	0.12488	GAA	.	.	none		0.493	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		C	58598352	T	C	58598352	3	2	10	1	0	0	0	0	1	0	0	0	1771	1783	62	2	635	2	C14orf37	14	58598352	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	26671768	58598352	48751188	280	2120										
C14orf37	145407	hgsc.bcm.edu	37	chr14	58605920	58605920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agagctattttctaggtcatCggtgttcatcttatcggact	9	8	4	1	rs373177726		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:58605920C>T	ENST00000267485.7	-	2	351	c.157G>A	c.(157-159)Gat>Aat	p.D53N	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	53						integral component of membrane (GO:0016021)		p.D53N(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTAGGTCATCGGTGTTCATC	0.478																																					p.D53N		Atlas-SNP	.											C14orf37,NS,carcinoma,0,1	C14orf37	87	1	1	Substitution - Missense(1)	breast(1)	c.G157A						scavenged	.	C	ASN/ASP	0,4406		0,0,2203	271	267	268		157	5.4	0.8	14		268	1,8599	1.2+/-3.3	0,1,4299	no	missense	C14orf37	NM_001001872.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	53/775	58605920	1,13005	2203	4300	6503	SO:0001583	missense	145407	exon2			GGTCATCGGTGTT		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.157G>A	14.37:g.58605920C>T	ENSP00000267485:p.Asp53Asn	Somatic	338	1	0.00295858		WXS	Illumina HiSeq	Phase_I	322	5	0.015528	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838020	0.91117	0.0	1.16E-4	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34072	1.38	5.42	5.42	0.78866	.	0.361004	0.27100	N	0.020939	T	0.54175	0.1842	M	0.64997	1.995	0.33496	D	0.589324	D;D;D;D	0.76494	0.996;0.999;0.996;0.996	P;P;P;P	0.61070	0.811;0.883;0.811;0.811	T	0.65455	-0.6164	10	0.51188	T	0.08	-9.9146	15.9513	0.79840	0.0:1.0:0.0:0.0	.	91;53;53;53	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	N	53;91	ENSP00000267485:D53N	ENSP00000267485:D53N	D	-	1	0	C14orf37	57675673	0.002000	0.14202	0.833000	0.33012	0.076000	0.17211	1.405000	0.34635	2.559000	0.86315	0.655000	0.94253	GAT	.	.	weak		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		T	58605920	C	T	58605920	3	4	10	1	0	0	0	0	1	0	0	0	1771	884	31	1	2195	1	C14orf37	14	58605920	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7568	58605920	48743620	281	2121										
TRMT5	57570	hgsc.bcm.edu	37	chr14	61442460	61442460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaagcactaagaaactctaTagcttttgctggcaagttca	8	8	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:61442460T>C	ENST00000261249.6	-	4	1561	c.1177A>G	c.(1177-1179)Ata>Gta	p.I393V	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGAAACTCTATAGCTTTTGCT	0.443																																					p.I393V		Atlas-SNP	.											TRMT5,colon,carcinoma,+1,1	TRMT5	44	1	0			c.A1177G						scavenged	.						89	89	89					14																	61442460		2203	4300	6503	SO:0001583	missense	57570	exon4			ACTCTATAGCTTT	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1177A>G	14.37:g.61442460T>C	ENSP00000261249:p.Ile393Val	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	197	3	0.0152284	NM_020810		Missense_Mutation	SNP	ENST00000261249.6	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	T	1.578	-0.532238	0.04112	.	.	ENSG00000126814	ENST00000261249	T	0.23147	1.92	6.17	1.44	0.22558	.	0.226262	0.46758	N	0.000262	T	0.09512	0.0234	N	0.04090	-0.28	0.31756	N	0.633947	B	0.02656	0.0	B	0.13407	0.009	T	0.33445	-0.9868	10	0.07030	T	0.85	-15.4336	10.4839	0.44711	0.0:0.3409:0.0:0.6591	.	393	Q32P41	TRM5_HUMAN	V	393	ENSP00000261249:I393V	ENSP00000261249:I393V	I	-	1	0	TRMT5	60512213	0.049000	0.20398	0.722000	0.30670	0.991000	0.79684	0.175000	0.16762	0.580000	0.29522	0.533000	0.62120	ATA	.	.	none		0.443	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		C	61442460	T	C	61442460	3	2	10	1	0	0	0	0	1	0	0	0	16564	1406	49	2	360	2	TRMT5	14	61442460	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	2836540	61442460	45907080	282	2122										
RHOJ	57381	hgsc.bcm.edu	37	chr14	63757685	63757685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcaatcctcaccattttccaCcccaagaaaaagaagaaacg	5	13	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:63757685C>T	ENST00000316754.3	+	5	1050	c.588C>T	c.(586-588)caC>caT	p.H196H		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	196					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|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)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CCATTTTCCACCCCAAGAAAA	0.473																																					p.H196H		Atlas-SNP	.											RHOJ,NS,malignant_melanoma,+2,1	RHOJ	45	1	0			c.C588T						scavenged	.						125	121	122					14																	63757685		2203	4300	6503	SO:0001819	synonymous_variant	57381	exon5			TTTCCACCCCAAG	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.588C>T	14.37:g.63757685C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_020663	Q96KC1	Silent	SNP	ENST00000316754.3	37	CCDS9757.1																																																																																			.	.	none		0.473	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			T	63757685	C	T	63757685	2	4	10	1	0	0	0	0	0	0	0	1	13341	506	18	2		2	RHOJ	14	63757685	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2315225	63757685	43591855	283	2123										
HSPA2	3306	hgsc.bcm.edu	37	chr14	65008064	65008064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caaggacgcaggcaccatcaCggggctcaatgtgctgcgca	13	13	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:65008064C>T	ENST00000394709.1	+	2	573	c.497C>T	c.(496-498)aCg>aTg	p.T166M	HSPA2_ENST00000247207.6_Missense_Mutation_p.T166M|HSPA2_ENST00000554883.1_3'UTR|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	166					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.T166M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GGCACCATCACGGGGCTCAAT	0.662																																					p.T166M	Pancreas(136;1211 1835 24894 31984 38227)	Atlas-SNP	.											HSPA2,NS,carcinoma,0,2	HSPA2	83	2	1	Substitution - Missense(1)	endometrium(1)	c.C497T						PASS	.						51	52	52					14																	65008064		2203	4300	6503	SO:0001583	missense	3306	exon1			CCATCACGGGGCT	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.497C>T	14.37:g.65008064C>T	ENSP00000378199:p.Thr166Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	81	39	0.481481	NM_021979	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772333	0.69992	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01015	5.44;5.44	5.18	5.18	0.71444	.	0.112431	0.38605	U	0.001623	T	0.01905	0.0060	N	0.08118	0	0.39563	D	0.969168	D	0.71674	0.998	P	0.62014	0.897	T	0.75505	-0.3294	10	0.87932	D	0	-7.4702	18.6851	0.91560	0.0:1.0:0.0:0.0	.	166	P54652	HSP72_HUMAN	M	166	ENSP00000378199:T166M;ENSP00000247207:T166M	ENSP00000247207:T166M	T	+	2	0	HSPA2	64077817	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	7.818000	0.86416	2.407000	0.81776	0.563000	0.77884	ACG	.	.	none		0.662	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			T	65008064	C	T	65008064	3	4	10	1	0	0	0	0	1	0	0	0	7411	536	19	1	499	1	HSPA2	14	65008064	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1250379	65008064	42341476	284	2124										
ALKBH1	8846	hgsc.bcm.edu	37	chr14	78174250	78174250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggtctgcggtcccgggccggCtctgacggtagaagcggaaa	17	11	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:78174250C>T	ENST00000216489.3	-	1	113	c.98G>A	c.(97-99)aGc>aAc	p.S33N	SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	33					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCGGGCCGGCTCTGACGGTA	0.657																																					p.S33N		Atlas-SNP	.											.	ALKBH1	30	.	0			c.G98A						PASS	.						37	41	39					14																	78174250		2201	4298	6499	SO:0001583	missense	8846	exon1			GGCCGGCTCTGAC	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.98G>A	14.37:g.78174250C>T	ENSP00000216489:p.Ser33Asn	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_006020	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318509	0.60524	.	.	ENSG00000100601	ENST00000216489	T	0.29655	1.56	5.96	5.05	0.67936	.	0.328069	0.36972	N	0.002319	T	0.26484	0.0647	L	0.44542	1.39	0.28458	N	0.916036	B	0.28128	0.201	B	0.23419	0.046	T	0.10405	-1.0631	10	0.24483	T	0.36	-11.9065	14.3693	0.66828	0.1594:0.8406:0.0:0.0	.	33	Q13686	ALKB1_HUMAN	N	33	ENSP00000216489:S33N	ENSP00000216489:S33N	S	-	2	0	ALKBH1	77244003	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.926000	0.48892	1.456000	0.47831	0.655000	0.94253	AGC	.	.	none		0.657	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		T	78174250	C	T	78174250	3	4	10	1	0	0	0	0	1	0	0	0	526	797	28	2	1095	2	ALKBH1	14	78174250	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13166186	78174250	29175290	285	2125										
NRXN3	9369	hgsc.bcm.edu	37	chr14	79933659	79933659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgcggtctgaccgccttgccGtgggcttcagcaccactgtg	13	15	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:79933659G>A	ENST00000557594.1	+	2	1296	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	NRXN3_ENST00000281127.7_Missense_Mutation_p.V115M|NRXN3_ENST00000428277.2_Missense_Mutation_p.V115M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.V747M|NRXN3_ENST00000335750.5_Missense_Mutation_p.V747M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	115	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCGCCTTGCCGTGGGCTTCAG	0.582																																					p.V747M		Atlas-SNP	.											NRXN3_ENST00000428277,NS,carcinoma,0,2	NRXN3	342	2	0			c.G2239A						scavenged	.						121	103	109					14																	79933659		2203	4300	6503	SO:0001583	missense	9369	exon13			CTTGCCGTGGGCT	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.343G>A	14.37:g.79933659G>A	ENSP00000451672:p.Val115Met	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	G	28.0	4.878615	0.91740	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78924	-1.22;-1.22;0.96;0.96;0.96	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.79805	2.47	0.58432	D	0.99999	D;D;D;P	0.89917	1.0;1.0;1.0;0.636	D;D;D;B	0.75484	0.97;0.986;0.967;0.212	D	0.88096	0.2816	9	.	.	.	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	115;115;115;747	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1120;1109;747;747;115;115;115	ENSP00000451648:V747M;ENSP00000338349:V747M;ENSP00000451672:V115M;ENSP00000281127:V115M;ENSP00000394426:V115M	.	V	+	1	0	NRXN3	79003412	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.995000	0.88328	2.797000	0.96272	0.655000	0.94253	GTG	.	.	none		0.582	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		A	79933659	G	A	79933659	3	1	10	1	0	0	0	0	1	0	0	0	10667	1145	40	1	2532	1	NRXN3	14	79933659	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1759409	79933659	27415881	286	2126										
CLMN	79789	hgsc.bcm.edu	37	chr14	95669923	95669923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	catcctcgtcaggttttgtcTcatgaggtgaaggaactttg	11	8	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr14:95669923T>C	ENST00000298912.4	-	9	1876	c.1763A>G	c.(1762-1764)gAg>gGg	p.E588G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	588					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E588G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGGTTTTGTCTCATGAGGTGA	0.398																																					p.E588G		Atlas-SNP	.											CLMN,NS,carcinoma,-1,2	CLMN	103	2	1	Substitution - Missense(1)	endometrium(1)	c.A1763G						scavenged	.						84	82	83					14																	95669923		2203	4300	6503	SO:0001583	missense	79789	exon9			TTTGTCTCATGAG	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1763A>G	14.37:g.95669923T>C	ENSP00000298912:p.Glu588Gly	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	153	3	0.0196078	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693062	0.30052	.	.	ENSG00000165959	ENST00000298912	D	0.94184	-3.37	5.48	4.35	0.52113	.	0.175417	0.27622	N	0.018549	D	0.90277	0.6959	M	0.64997	1.995	0.22001	N	0.999426	B	0.12630	0.006	B	0.09377	0.004	T	0.81788	-0.0772	10	0.44086	T	0.13	.	8.441	0.32816	0.0:0.0878:0.0:0.9122	.	588	Q96JQ2	CLMN_HUMAN	G	588	ENSP00000298912:E588G	ENSP00000298912:E588G	E	-	2	0	CLMN	94739676	0.042000	0.20092	0.010000	0.14722	0.017000	0.09413	2.624000	0.46444	2.081000	0.62600	0.533000	0.62120	GAG	.	.	none		0.398	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			C	95669923	T	C	95669923	3	2	10	1	0	0	0	0	1	0	0	0	3542	1551	54	3	1265	3	CLMN	14	95669923	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	15736264	95669923	11679617	287	2127										
HERC2	8924	hgsc.bcm.edu	37	chr15	28483809	28483809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttatatcatacaccttcccGtcaatcacagtccagaagcc	4	14	3	1	rs149204675	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:28483809G>A	ENST00000261609.7	-	24	3795	c.3687C>T	c.(3685-3687)gaC>gaT	p.D1229D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACACCTTCCCGTCAATCACAG	0.373													G|||	26	0.00519169	0.0129	0.0	5008	,	,		17942	0.0		0.004	False		,,,				2504	0.0051				p.D1229D		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C3687T						scavenged	.						73	68	70					15																	28483809		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon24			CTTCCCGTCAATC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3687C>T	15.37:g.28483809G>A		Somatic	463	5	0.0107991		WXS	Illumina HiSeq	Phase_I	435	5	0.0114943	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.998;A|0.002	0.002	strong		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28483809	G	A	28483809	2	1	10	1	0	0	0	0	0	0	0	1	7058	1136	40	1		1	HERC2	15	28483809	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10		28483809	74047583	288	2128										
RYR3	6263	hgsc.bcm.edu	37	chr15	34064327	34064327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gacgtccatctttgagcacgTcactcagcatcagtttggaa	9	11	4	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:34064327T>C	ENST00000389232.4	+	63	9093	c.9023T>C	c.(9022-9024)gTc>gCc	p.V3008A	RYR3_ENST00000415757.3_Missense_Mutation_p.V3008A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3008					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTGAGCACGTCACTCAGCAT	0.488																																					p.V3008A		Atlas-SNP	.											RYR3,NS,carcinoma,+1,1	RYR3	760	1	0			c.T9023C						scavenged	.						82	76	78					15																	34064327		1993	4177	6170	SO:0001583	missense	6263	exon63			AGCACGTCACTCA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9023T>C	15.37:g.34064327T>C	ENSP00000373884:p.Val3008Ala	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	190	2	0.0105263	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628276	0.67015	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96885	-4.16;-4.16	5.65	5.65	0.86999	.	0.367090	0.27172	N	0.020595	D	0.92645	0.7663	N	0.19112	0.55	0.31972	N	0.607035	B;B	0.19817	0.008;0.039	B;B	0.22601	0.006;0.04	D	0.91591	0.5287	10	0.62326	D	0.03	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	3008;3008	Q15413-2;Q15413	.;RYR3_HUMAN	A	3008	ENSP00000373884:V3008A;ENSP00000399610:V3008A	ENSP00000354735:V3008A	V	+	2	0	RYR3	31851619	1.000000	0.71417	0.231000	0.23993	0.993000	0.82548	7.825000	0.86693	2.371000	0.80710	0.533000	0.62120	GTC	.	.	none		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			C	34064327	T	C	34064327	3	2	10	1	0	0	0	0	1	0	0	0	13770	1667	58	2	9273	2	RYR3	15	34064327	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5580518	34064327	68467065	289	2129										
GJD2	57369	hgsc.bcm.edu	37	chr15	35045017	35045017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccaaccaggaacccaatttCcagggcatttcggaacacca	8	14	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:35045017C>T	ENST00000290374.4	-	2	1104	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	210					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AACCCAATTTCCAGGGCATTT	0.488																																					p.E210K		Atlas-SNP	.											GJD2,NS,malignant_melanoma,0,2	GJD2	49	2	0			c.G628A						scavenged	.						86	84	84					15																	35045017		2201	4298	6499	SO:0001583	missense	57369	exon2			CAATTTCCAGGGC	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.628G>A	15.37:g.35045017C>T	ENSP00000290374:p.Glu210Lys	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	145	2	0.0137931	NM_020660	Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752832	0.89753	.	.	ENSG00000159248	ENST00000290374	D	0.97831	-4.56	5.86	5.86	0.93980	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	D	0.000002	D	0.99266	0.9744	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.98824	1.0748	10	0.87932	D	0	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	210	Q9UKL4	CXD2_HUMAN	K	210	ENSP00000290374:E210K	ENSP00000290374:E210K	E	-	1	0	GJD2	32832309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GAA	.	.	none		0.488	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			T	35045017	C	T	35045017	3	4	10	1	0	0	0	0	1	0	0	0	6417	864	30	2	341	2	GJD2	15	35045017	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	980690	35045017	67486375	290	2130										
FSIP1	161835	hgsc.bcm.edu	37	chr15	40068702	40068702	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctggttttgaaattccatcTaggtttccctttataatatc	6	8	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:40068702T>C	ENST00000350221.3	-	2	233	c.24A>G	c.(22-24)ctA>ctG	p.L8L	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	8										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAATTCCATCTAGGTTTCCCT	0.348																																					p.L8L		Atlas-SNP	.											FSIP1,NS,carcinoma,-2,1	FSIP1	53	1	0			c.A24G						scavenged	.						112	110	111					15																	40068702		2203	4300	6503	SO:0001819	synonymous_variant	161835	exon2			TCCATCTAGGTTT	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.24A>G	15.37:g.40068702T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_152597	Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	CCDS10050.1																																																																																			.	.	none		0.348	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		C	40068702	T	C	40068702	2	2	10	1	0	0	0	0	0	0	0	1	6074	1509	53	3		3	FSIP1	15	40068702	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5023685	40068702	62462690	291	2131										
BUB1B	701	hgsc.bcm.edu	37	chr15	40453452	40453452	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgaagaaggaagggggtgctCtgaggtaggtacgggagaaa	19	3	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:40453452C>T	ENST00000287598.6	+	1	226	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Silent_p.L11L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGGGGGTGCTCTGAGGTAGGT	0.637			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.L11L		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	BUB1B	71	.	0			c.C31T						PASS	.						66	54	58					15																	40453452		2202	4298	6500	SO:0001819	synonymous_variant	701	exon1	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	GGTGCTCTGAGGT	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.31C>T	15.37:g.40453452C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	78	17	0.217949	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																			.	.	none		0.637	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			T	40453452	C	T	40453452	2	4	10	1	0	0	0	0	0	0	0	1	1571	912	32	2		2	BUB1B	15	40453452	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	384750	40453452	62077940	292	2132										
B2M	567	hgsc.bcm.edu	37	chr15	45003766	45003781	+	Frame_Shift_Del	DEL	GCTGTGCTCGCGCTAC	GCTGTGCTCGCGCTAC	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtctcgctccgtggccttaGctgtgctcgcgctactctct					rs11553033|rs104894481|rs11553044|rs369474839|rs552741313		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	GCTGTGCTCGCGCTAC	GCTGTGCTCGCGCTAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:45003766_45003781delGCTGTGCTCGCGCTAC	ENST00000558401.1	+	1	92_107	c.22_37delGCTGTGCTCGCGCTAC	c.(22-39)gctgtgctcgcgctactcfs	p.AVLALL8fs	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000544417.1_Frame_Shift_Del_p.AVLALL8fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.AVLALL8fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	8					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L15fs*41(4)|p.L13F(1)|p.A8T(1)|p.A11fs*42(1)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTC	0.616																																					p.7_12del		Pindel,Atlas-Indel	.											B2M,NS,lymphoid_neoplasm,+1,1	B2M	99	1	8	Deletion - Frameshift(5)|Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|kidney(1)|skin(1)	c.21_36del	GRCh37	CM060840	B2M	M	rs104894481	PASS	.																																			SO:0001589	frameshift_variant	567	exon1			.	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.22_37delGCTGTGCTCGCGCTAC	15.37:g.45003766_45003781delGCTGTGCTCGCGCTAC	ENSP00000452780:p.Ala8fs	Somatic	93	.	.		WXS	Illumina HiSeq	Phase_I	68	25	0.368	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																			.	.	none		0.616	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45003781	GCTGTGCTCGCGCTAC	-	45003766	7	5	10	1	0	1	0	1	0	0	0	0	1244	971	34	0	24	0	B2M	15	45003766	Frame_Shift_Del	DEL	GCTGTGCTCGCGCTAC	TCGA-FF-8041-01A-11D-2210-10	4550314	45003766	57527626	293	2133										
DUOX2	50506	hgsc.bcm.edu	37	chr15	45403769	45403769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgctgccgtccagccagccCgtcacctggttggcctgcgg	14	17	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:45403769C>T	ENST00000603300.1	-	6	730	c.528G>A	c.(526-528)acG>acA	p.T176T	DUOX2_ENST00000389039.6_Silent_p.T176T|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	176	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGCCAGCCCGTCACCTGGT	0.781																																					p.T176T		Atlas-SNP	.											.	DUOX2	137	.	0			c.G528A						PASS	.						4	4	4					15																	45403769		1903	3798	5701	SO:0001819	synonymous_variant	50506	exon6			CCAGCCCGTCACC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.528G>A	15.37:g.45403769C>T		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																			.	.	none		0.781	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45403769	C	T	45403769	2	4	10	1	0	0	0	0	0	0	0	1	4801	639	23	1		1	DUOX2	15	45403769	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	400003	45403769	57127623	294	2134										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48063877	48063877	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agtaatggcactcttcctagGacgggactaaagaggacgcc	12	10	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:48063877G>A	ENST00000316364.5	+	19	3556	c.3117G>A	c.(3115-3117)agG>agA	p.R1039R	SEMA6D_ENST00000536845.2_Silent_p.R1039R|SEMA6D_ENST00000358066.4_Silent_p.R977R|SEMA6D_ENST00000389428.3_Silent_p.R964R|SEMA6D_ENST00000537942.1_Silent_p.R977R|SEMA6D_ENST00000354744.4_Silent_p.R983R|SEMA6D_ENST00000389432.2_Silent_p.R996R|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Silent_p.R977R|SEMA6D_ENST00000389433.2_Silent_p.R1020R|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1039					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCTTCCTAGGACGGGACTAA	0.512																																					p.R1039R		Atlas-SNP	.											.	SEMA6D	322	.	0			c.G3117A						PASS	.						167	165	165					15																	48063877		2198	4297	6495	SO:0001819	synonymous_variant	80031	exon19			TCCTAGGACGGGA	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3117G>A	15.37:g.48063877G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	146	8	0.0547945	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			.	.	none		0.512	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48063877	G	A	48063877	2	1	10	1	0	0	0	0	0	0	0	1	14042	1165	41	2		2	SEMA6D	15	48063877	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2660108	48063877	54467515	295	2135										
PPIB	5479	hgsc.bcm.edu	37	chr15	64455114	64455114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaggtcccggcagcagcagGaagaagacggaccccgcgat	15	12	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:64455114G>A	ENST00000300026.3	-	1	290	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	24					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCAGCAGCAGGAAGAAGACGG	0.652																																					p.F24F	GBM(105;399 1481 32889 33051 36637)	Atlas-SNP	.											.	PPIB	20	.	0			c.C72T						PASS	.						24	28	27					15																	64455114		2203	4300	6503	SO:0001819	synonymous_variant	5479	exon1			CAGCAGGAAGAAG		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.72C>T	15.37:g.64455114G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	162	27	0.166667	NM_000942	A8K534|Q6IBH5|Q9BVK5	Silent	SNP	ENST00000300026.3	37	CCDS10191.1																																																																																			.	.	none		0.652	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			A	64455114	G	A	64455114	2	1	10	1	0	0	0	0	0	0	0	1	12319	1165	41	2		2	PPIB	15	64455114	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	16391237	64455114	38076278	296	2136										
DIS3L	115752	hgsc.bcm.edu	37	chr15	66621332	66621332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aataaaacactggctgattcTctggataatgcgaacgaccc	8	10	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:66621332T>C	ENST00000319212.4	+	13	2276	c.2226T>C	c.(2224-2226)tcT>tcC	p.S742S	DIS3L_ENST00000319194.5_Silent_p.S659S|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	742					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGCTGATTCTCTGGATAATG	0.493																																					p.S742S		Atlas-SNP	.											.	DIS3L	175	.	0			c.T2226C						PASS	.						131	135	134					15																	66621332		2201	4299	6500	SO:0001819	synonymous_variant	115752	exon13			TGATTCTCTGGAT		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2226T>C	15.37:g.66621332T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	CCDS45286.1																																																																																			.	.	none		0.493	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		C	66621332	T	C	66621332	2	2	10	1	0	0	0	0	0	0	0	1	4536	1538	54	3		3	DIS3L	15	66621332	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	2166218	66621332	35910060	297	2137										
TMEM202	338949	hgsc.bcm.edu	37	chr15	72700069	72700069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aactacttaacttccagatcGcctgcctgtgatgaaaacgt	7	11	0	3	rs35916586	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:72700069G>A	ENST00000341689.3	+	5	711	c.657G>A	c.(655-657)tcG>tcA	p.S219S	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	219						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTCCAGATCGCCTGCCTGTG	0.453													G|||	104	0.0207668	0.0	0.0072	5008	,	,		19775	0.0685		0.0089	False		,,,				2504	0.0215				p.S219S		Atlas-SNP	.											TMEM202,NS,malignant_melanoma,+1,2	TMEM202	40	2	0			c.G657A						scavenged	.	G		16,4382	22.3+/-47.3	0,16,2183	85	84	84		657	-1.2	0	15	dbSNP_126	84	138,8456	68.7+/-131.2	1,136,4160	no	coding-synonymous	TMEM202	NM_001080462.1		1,152,6343	AA,AG,GG		1.6058,0.3638,1.1853		219/274	72700069	154,12838	2199	4297	6496	SO:0001819	synonymous_variant	338949	exon5			CAGATCGCCTGCC		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.657G>A	15.37:g.72700069G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	141	4	0.0283688	NM_001080462		Silent	SNP	ENST00000341689.3	37	CCDS32287.1																																																																																			G|0.984;A|0.016	0.016	strong		0.453	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		A	72700069	G	A	72700069	2	1	10	1	0	0	0	0	0	0	0	1	16124	1074	38	1		1	TMEM202	15	72700069	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	6078737	72700069	29831323	298	2138										
CYP1A2	1544	hgsc.bcm.edu	37	chr15	75042485	75042485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctggaccggtgtgggctgccCgccggcgcctggcccagaat	16	15	0	1	rs368187861		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:75042485C>A	ENST00000343932.4	+	2	469	c.406C>A	c.(406-408)Cgc>Agc	p.R136S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	136					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GTGGGCTGCCCGCCGGCGCCT	0.622																																					p.R136S		Atlas-SNP	.											CYP1A2,NS,carcinoma,-1,1	CYP1A2	70	1	0			c.C406A						scavenged	.						91	93	92					15																	75042485		2197	4296	6493	SO:0001583	missense	1544	exon2			GCTGCCCGCCGGC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.406C>A	15.37:g.75042485C>A	ENSP00000342007:p.Arg136Ser	Somatic	70	1	0.0142857		WXS	Illumina HiSeq	Phase_I	68	2	0.0294118	NM_000761	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893375	0.91889	.	.	ENSG00000140505	ENST00000343932	T	0.79845	-1.31	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95243	0.8353	10	0.87932	D	0	.	18.1026	0.89510	0.0:1.0:0.0:0.0	.	136	P05177-2	.	S	136	ENSP00000342007:R136S	ENSP00000342007:R136S	R	+	1	0	CYP1A2	72829538	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.419000	0.80179	2.499000	0.84300	0.561000	0.74099	CGC	.	.	alt		0.622	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042485	C	A	75042485	3	1	10	1	0	0	0	0	1	0	0	0	4150	652	23	4	408	4	CYP1A2	15	75042485	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2342416	75042485	27488907	299	2139										
C15orf40	123207	hgsc.bcm.edu	37	chr15	83677271	83677271	+	Intron	DEL	A	A	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acagagcaagattttgtctcAaaaaaaaaaaaaagagagcg					rs373204607		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:83677271delA	ENST00000513601.2	-	3	374				RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000304177.5_Intron|C15orf40_ENST00000451195.3_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						attttgtctcaaaaaaaaaaa	0.483																																					p.L132fs		Pindel	.											.	C15orf40	18	.	0			c.396delG						PASS	.						31	31	31					15																	83677271		2203	4300	6503	SO:0001627	intron_variant	123207	exon3			.	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.366+28T>-	15.37:g.83677271delA		Somatic	18	.	.		WXS	Illumina HiSeq	Phase_I	34	12	0.353	NM_001160113	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Frame_Shift_Del	DEL	ENST00000513601.2	37	CCDS32312.2																																																																																			.	.	weak		0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		-	83677271	A	-	83677271	6	5	10	0	1	1	0	1	0	0	0	0	1794	131	5	0		0	C15orf40	15	83677271	Intron	DEL	A	TCGA-FF-8041-01A-11D-2210-10	8634786	83677271	18854121	300	2140										
SH3GL3	6457	hgsc.bcm.edu	37	chr15	84287010	84287010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gattcttccccattaattacGtggaagtgatcgtgccttta	8	9	1	1	rs376114446		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr15:84287010G>A	ENST00000427482.2	+	9	1321	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000324537.5_Missense_Mutation_p.V347M|SH3GL3_ENST00000434347.1_Missense_Mutation_p.V347M|AC087738.1_ENST00000411248.1_RNA	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	339	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CATTAATTACGTGGAAGTGAT	0.393																																					p.V339M		Atlas-SNP	.											SH3GL3_ENST00000427482,NS,carcinoma,0,2	SH3GL3	91	2	0			c.G1015A						PASS	.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	106	94	98		1015	5.6	1	15		98	0,8600		0,0,4300	no	missense	SH3GL3	NM_003027.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	339/348	84287010	1,13005	2203	4300	6503	SO:0001583	missense	6457	exon9			AATTACGTGGAAG	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.1015G>A	15.37:g.84287010G>A	ENSP00000391372:p.Val339Met	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	80	14	0.175	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950836	0.92660	2.27E-4	0.0	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.55234	0.53;0.53;0.53	5.57	5.57	0.84162	Src homology-3 domain (4);	0.264468	0.37483	N	0.002070	D	0.82697	0.5093	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.88419	0.3027	10	0.87932	D	0	-31.8197	18.5386	0.91019	0.0:0.0:1.0:0.0	.	339;347	Q99963;Q99963-3	SH3G3_HUMAN;.	M	339;347;347	ENSP00000391372:V339M;ENSP00000320092:V347M;ENSP00000397871:V347M	ENSP00000320092:V347M	V	+	1	0	SH3GL3	82078014	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	9.300000	0.96151	2.612000	0.88384	0.655000	0.94253	GTG	.	.	weak		0.393	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		A	84287010	G	A	84287010	3	1	10	1	0	0	0	0	1	0	0	0	14252	1145	40	1	1049	1	SH3GL3	15	84287010	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	609739	84287010	18244382	301	2141										
CHTF18	63922	hgsc.bcm.edu	37	chr16	840179	840179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtcctcccttccccacagggCtctctcctccacgtcccatg	6	21	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:840179C>T	ENST00000262315.9	+	5	672	c.609C>T	c.(607-609)ggC>ggT	p.G203G	CHTF18_ENST00000317063.6_Silent_p.G400G|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Silent_p.G231G|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	203					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCCCACAGGGCTCTCTCCTCC	0.657																																					p.G203G		Atlas-SNP	.											.	CHTF18	52	.	0			c.C609T						PASS	.						32	36	35					16																	840179		2048	4196	6244	SO:0001819	synonymous_variant	63922	exon5			ACAGGGCTCTCTC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.609C>T	16.37:g.840179C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	91	23	0.252747	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370712	0.11409	.	.	ENSG00000127586	ENST00000426047	.	.	.	4.9	-2.96	0.05547	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.19945	N	0.999945	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	-9.3545	3.1824	0.06589	0.3147:0.2606:0.0:0.4247	.	.	.	.	F	99	.	.	L	+	1	0	CHTF18	780180	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.736000	0.04882	-0.299000	0.08909	-0.455000	0.05494	CTC	.	.	none		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		T	840179	C	T	840179	2	4	10	1	0	0	0	0	0	0	0	1	3414	784	28	2		2	CHTF18	16	840179	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10		840179	89514574	302	2142										
ABCA3	21	hgsc.bcm.edu	37	chr16	2338028	2338028	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccccgggatgccccttaccGagcacctcgcggggctcctg	12	19	0	0	rs76519389	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:2338028G>A	ENST00000301732.5	-	21	3703	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	ABCA3_ENST00000382381.3_Splice_Site_p.L943L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1001					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCCCCTTACCGAGCACCTCGC	0.667													G|||	4	0.000798722	0.0023	0.0	5008	,	,		14175	0.0		0.0	False		,,,				2504	0.001				p.L1001L		Atlas-SNP	.											.	ABCA3	176	.	0			c.C3003T						PASS	.	G		2,4394		0,2,2196	22	23	23		3003	-1.2	1	16	dbSNP_131	23	0,8598		0,0,4299	yes	coding-synonymous-near-splice	ABCA3	NM_001089.2		0,2,6495	AA,AG,GG		0.0,0.0455,0.0154		1001/1705	2338028	2,12992	2198	4299	6497	SO:0001630	splice_region_variant	21	exon21			CTTACCGAGCACC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3004+1C>T	16.37:g.2338028G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	20	8	0.4	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																			G|1.000;A|0.000	0.000	strong		0.667	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Silent	A	2338028	G	A	2338028	5	1	10	1	0	0	0	0	0	0	1	0	33	1072	37	1	2163	1	ABCA3	16	2338028	Splice_Site	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1497849	2338028	88016725	303	2143										
ZNF205	7755	hgsc.bcm.edu	37	chr16	3168942	3168942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcctttctgggcccctcaagCgcacggcaagggtgaggcct	14	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:3168942C>T	ENST00000382192.3	+	6	726	c.521C>T	c.(520-522)gCg>gTg	p.A174V	ZNF205_ENST00000219091.4_Missense_Mutation_p.A174V|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCCCTCAAGCGCACGGCAAG	0.657																																					p.A174V		Atlas-SNP	.											ZNF205,NS,carcinoma,-1,1	ZNF205	42	1	0			c.C521T						scavenged	.						61	72	68					16																	3168942		2197	4300	6497	SO:0001583	missense	7755	exon6			CTCAAGCGCACGG	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.521C>T	16.37:g.3168942C>T	ENSP00000371627:p.Ala174Val	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	173	2	0.0115607	NM_003456	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384821	0.04966	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.06608	3.28;3.28;3.38	4.89	-0.476	0.12100	Krueppel-associated box (3);	0.710645	0.11569	N	0.550997	T	0.02047	0.0064	N	0.02169	-0.655	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46938	-0.9155	10	0.23891	T	0.37	-4.9086	4.5307	0.12004	0.0:0.1883:0.3534:0.4582	.	174	O95201	ZN205_HUMAN	V	174	ENSP00000371627:A174V;ENSP00000219091:A174V;ENSP00000403306:A174V	ENSP00000219091:A174V	A	+	2	0	ZNF205	3108943	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.078000	0.14761	-0.213000	0.10094	-0.459000	0.05422	GCG	.	.	none		0.657	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		T	3168942	C	T	3168942	3	4	10	1	0	0	0	0	1	0	0	0	17761	768	27	1	539	1	ZNF205	16	3168942	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	830914	3168942	87185811	304	2144										
ZNF434	54925	hgsc.bcm.edu	37	chr16	3434848	3434848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccctgtagatctggctgttcTgctgacaggtctggagtttt	12	9	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:3434848T>C	ENST00000396852.4	-	6	1152	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q70R|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.Q282R|ZSCAN32_ENST00000573830.1_5'UTR|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.Q70R|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q282R|ZSCAN32_ENST00000439568.2_5'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	282	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CTGGCTGTTCTGCTGACAGGT	0.532																																					p.Q70R		Atlas-SNP	.											.	.	.	.	0			c.A209G						PASS	.						104	110	108					16																	3434848		2197	4300	6497	SO:0001583	missense	54925	exon5			CTGTTCTGCTGAC	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.845A>G	16.37:g.3434848T>C	ENSP00000380061:p.Gln282Arg	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	128	31	0.242188	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	T	0.032	-1.329858	0.01298	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000422427	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	3.68	-0.497	0.12023	.	1.118750	0.07237	U	0.863657	T	0.09379	0.0231	N	0.00517	-1.405	0.09310	N	1	B;B;B	0.21606	0.002;0.058;0.058	B;B;B	0.22880	0.005;0.042;0.025	T	0.30119	-0.9989	10	0.02654	T	1	.	7.606	0.28103	0.0:0.1686:0.0:0.8314	.	70;70;282	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	R	70;282;282;70	ENSP00000302502:Q70R;ENSP00000380061:Q282R;ENSP00000380057:Q282R;ENSP00000407312:Q70R	ENSP00000302502:Q70R	Q	-	2	0	ZNF434	3374849	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.014000	0.12656	-0.454000	0.07066	-0.912000	0.02778	CAG	.	.	none		0.532	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		C	3434848	T	C	3434848	3	2	10	1	0	0	0	0	1	0	0	0	17905	1580	55	3	1256	3	ZNF434	16	3434848	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	265906	3434848	86919905	305	2145										
ZNF597	146434	hgsc.bcm.edu	37	chr16	3490834	3490834	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agccgcatcctccaaagactCttttgtaccatctttgctga	6	13	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:3490834C>T	ENST00000301744.4	-	3	368	c.133G>A	c.(133-135)Gag>Aag	p.E45K	NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000424546.2_5'Flank|NAA60_ENST00000573580.1_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	45	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCCAAAGACTCTTTTGTACCA	0.463																																					p.E45K		Atlas-SNP	.											ZNF597,NS,carcinoma,0,1	ZNF597	41	1	0			c.G133A						scavenged	.						107	90	96					16																	3490834		2197	4300	6497	SO:0001583	missense	146434	exon3			AAGACTCTTTTGT	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.133G>A	16.37:g.3490834C>T	ENSP00000301744:p.Glu45Lys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	70	3	0.0428571	NM_152457		Missense_Mutation	SNP	ENST00000301744.4	37	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	5.452	0.268558	0.10349	.	.	ENSG00000167981	ENST00000301744	T	0.04234	3.67	4.07	3.12	0.35913	Krueppel-associated box (3);	0.418161	0.17752	N	0.163194	T	0.10337	0.0253	M	0.89095	3.005	0.09310	N	1	B	0.23937	0.094	B	0.24269	0.052	T	0.12426	-1.0548	10	0.87932	D	0	-5.0167	7.5987	0.28063	0.0:0.8832:0.0:0.1168	.	45	Q96LX8	ZN597_HUMAN	K	45	ENSP00000301744:E45K	ENSP00000301744:E45K	E	-	1	0	ZNF597	3430835	0.067000	0.21026	0.031000	0.17742	0.023000	0.10783	2.230000	0.42999	1.058000	0.40530	0.563000	0.77884	GAG	.	.	none		0.463	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		T	3490834	C	T	3490834	3	4	10	1	0	0	0	0	1	0	0	0	18024	922	32	2	1149	2	ZNF597	16	3490834	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	55986	3490834	86863919	306	2146										
CIITA	4261	hgsc.bcm.edu	37	chr16	11010310	11010310	+	Frame_Shift_Del	DEL	C	C	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccagctgaagtccttggaaaCcctcaagtgagtgagctggg							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:11010310delC	ENST00000324288.8	+	15	3189	c.3056delC	c.(3055-3057)accfs	p.T1019fs	CIITA_ENST00000381835.5_Frame_Shift_Del_p.T435fs	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1019					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCTTGGAAACCCTCAAGTGA	0.522			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.T1019fs		Pindel,Atlas-Indel	.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA	92	.	0			c.3055delA						PASS	.						47	38	41					16																	11010310		2197	4300	6497	SO:0001589	frameshift_variant	4261	exon15			.	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3056delC	16.37:g.11010310delC	ENSP00000316328:p.Thr1019fs	Somatic	76	.	.		WXS	Illumina HiSeq	Phase_I	46	11	0.239	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Del	DEL	ENST00000324288.8	37	CCDS10544.1																																																																																			.	.	none		0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		-	11010310	C	-	11010310	7	5	10	1	0	1	0	1	0	0	0	0	3428	507	18	0	3114	0	CIITA	16	11010310	Frame_Shift_Del	DEL	C	TCGA-FF-8041-01A-11D-2210-10	7519476	11010310	79344443	307	2147										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348808	11348808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acgatgcgctggcggcacagCtcctgcagcggccgcacgcg	15	16	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:11348808C>T	ENST00000332029.2	-	2	678	c.528G>A	c.(526-528)gaG>gaA	p.E176E	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	176	Interaction with Elongin BC complex. {ECO:0000250}.|SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.E176fs*35(3)|p.0?(1)|p.Y64fs*1(1)|p.V171_R179del(1)|p.E176E(1)|p.R127_*212del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GGCGGCACAGCTCCTGCAGCG	0.731			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.E176E	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,lymph_node,lymphoid_neoplasm,0,1	SOCS1	84	1	8	Deletion - Frameshift(4)|Deletion - In frame(2)|Whole gene deletion(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(8)	c.G528A						PASS	.						7	7	7					16																	11348808		2131	4193	6324	SO:0001819	synonymous_variant	8651	exon2			GCACAGCTCCTGC	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.528G>A	16.37:g.11348808C>T		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	11	6	0.545455	NM_003745	O15097|Q9NSA7	Silent	SNP	ENST00000332029.2	37	CCDS10546.1																																																																																			.	.	none		0.731	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			T	11348808	C	T	11348808	2	4	10	1	0	0	0	0	0	0	0	1	14913	796	28	2		2	SOCS1	16	11348808	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	338498	11348808	79005945	308	2148										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11349329	11349329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggctgccacctggttgtgtgCtaccatcctacagaaggggc	13	12	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:11349329C>T	ENST00000332029.2	-	2	157	c.7G>A	c.(7-9)Gca>Aca	p.A3T	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	3					cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.0?(1)|p.A3T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						TGGTTGTGTGCTACCATCCTA	0.697			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.A3T	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,NS,lymphoid_neoplasm,0,2	SOCS1	84	2	2	Substitution - Missense(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(2)	c.G7A						scavenged	.						6	7	6					16																	11349329		1898	3954	5852	SO:0001583	missense	8651	exon2			TGTGTGCTACCAT	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.7G>A	16.37:g.11349329C>T	ENSP00000329418:p.Ala3Thr	Somatic	16	2	0.125		WXS	Illumina HiSeq	Phase_I	12	8	0.666667	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891903	0.72524	.	.	ENSG00000185338	ENST00000332029	T	0.27104	1.69	3.27	3.27	0.37495	.	0.182614	0.47455	D	0.000237	T	0.15825	0.0381	N	0.08118	0	0.44871	D	0.997889	D	0.55385	0.971	P	0.44772	0.46	T	0.09530	-1.0670	10	0.46703	T	0.11	-4.6538	13.6611	0.62368	0.0:1.0:0.0:0.0	.	3	O15524	SOCS1_HUMAN	T	3	ENSP00000329418:A3T	ENSP00000329418:A3T	A	-	1	0	SOCS1	11256830	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.316000	0.65815	1.668000	0.50843	0.491000	0.48974	GCA	.	.	none		0.697	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			T	11349329	C	T	11349329	3	4	10	1	0	0	0	0	1	0	0	0	14913	797	28	2	632	2	SOCS1	16	11349329	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	521	11349329	79005424	309	2149										
RSL1D1	26156	hgsc.bcm.edu	37	chr16	11944196	11944196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccaccattaaaaataaacttTcattctcattcaaaagcaac	1	11	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:11944196T>C	ENST00000571133.1	-	2	257	c.185A>G	c.(184-186)gAa>gGa	p.E62G	RP11-166B2.8_ENST00000574364.1_RNA|RSL1D1_ENST00000542106.1_Intron	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	62					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						AAATAAACTTTCATTCTCATT	0.363																																					p.E62G		Atlas-SNP	.											.	RSL1D1	40	.	0			c.A185G						PASS	.						80	76	78					16																	11944196		2197	4300	6497	SO:0001583	missense	26156	exon2			AAACTTTCATTCT	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.185A>G	16.37:g.11944196T>C	ENSP00000460871:p.Glu62Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	101	5	0.049505	NM_015659	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947427	0.73672	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.52295	0.67	5.91	5.91	0.95273	Ribosomal protein L1, superfamily (1);	0.240132	0.42420	D	0.000719	T	0.69033	0.3066	M	0.80616	2.505	0.80722	D	1	P;D	0.63880	0.947;0.993	P;D	0.64687	0.849;0.928	T	0.73509	-0.3960	10	0.72032	D	0.01	-13.9832	15.1713	0.72875	0.0:0.0:0.0:1.0	.	62;62	Q32Q62;O76021	.;RL1D1_HUMAN	G	62	ENSP00000347897:E62G	ENSP00000347897:E62G	E	-	2	0	RSL1D1	11851697	0.997000	0.39634	0.850000	0.33497	0.298000	0.27526	5.671000	0.68095	2.266000	0.75297	0.454000	0.30748	GAA	.	.	none		0.363	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		C	11944196	T	C	11944196	3	2	10	1	0	0	0	0	1	0	0	0	13700	1783	62	2	1319	2	RSL1D1	16	11944196	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	594867	11944196	78410557	310	2150										
ABCC6	368	hgsc.bcm.edu	37	chr16	16244433	16244438	+	Splice_Site	DEL	ACCGGG	ACCGGG	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caggccggggcgggagccttAccgggcacagtccatcacgg							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	ACCGGG	ACCGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:16244433_16244438delACCGGG	ENST00000205557.7	-	30	4429_4433	c.4400_4404delCCCGGT	c.(4399-4404)gcccgg>g	p.AR1467del		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1467	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CGGGAGCCTTACCGGGCACAGTCCAT	0.675																																					p.1467_1468del		Atlas-Indel	.											.	ABCC6	110	.	0			c.4401_4403del						PASS	.																																			SO:0001630	splice_region_variant	368	exon30			.	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4403+1CCCGGT>-	16.37:g.16244433_16244438delACCGGG		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	155	12	0.0774194	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	In_Frame_Del	DEL	ENST00000205557.7	37	CCDS10568.1																																																																																			.	.	none		0.675	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		In_Frame_Del	-	16244438	ACCGGG	-	16244433	8	5	10	1	0	1	0	1	0	0	1	0	57	405	14	0	114	0	ABCC6	16	16244433	Splice_Site	DEL	ACCGGG	TCGA-FF-8041-01A-11D-2210-10	4300237	16244433	74110320	311	2151										
TMC5	79838	hgsc.bcm.edu	37	chr16	19488796	19488796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaatatcaatcattggcattCtttgttactattggctcaac	5	8	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:19488796C>T	ENST00000396229.2	+	13	2874	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	TMC5_ENST00000381414.4_Missense_Mutation_p.L709F|TMC5_ENST00000541464.1_Missense_Mutation_p.L657F|TMC5_ENST00000219821.5_Missense_Mutation_p.L463F|TMC5_ENST00000564959.1_Missense_Mutation_p.L392F|TMC5_ENST00000561503.1_Missense_Mutation_p.L350F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.L709F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	709					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATTGGCATTCTTTGTTACTA	0.388																																					p.L709F		Atlas-SNP	.											TMC5_ENST00000396229,NS,carcinoma,0,2	TMC5	169	2	0			c.C2125T						scavenged	.						247	229	235					16																	19488796		2197	4300	6497	SO:0001583	missense	79838	exon13			GGCATTCTTTGTT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2125C>T	16.37:g.19488796C>T	ENSP00000379531:p.Leu709Phe	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	183	2	0.010929	NM_001105249	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256030	0.80246	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.75050	-0.69;-0.9;-0.9;-0.9;-0.9	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.86406	0.5925	M	0.82823	2.61	0.47308	D	0.99938	D;D;D;D;D;D	0.89917	0.997;0.994;0.997;0.984;0.995;1.0	D;P;P;P;P;D	0.91635	0.927;0.882;0.895;0.788;0.847;0.999	D	0.86258	0.1653	10	0.33141	T	0.24	-15.0845	16.7528	0.85490	0.0:1.0:0.0:0.0	.	657;392;463;463;709;709	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	F	657;709;709;709;463;392	ENSP00000441227:L657F;ENSP00000370822:L709F;ENSP00000379531:L709F;ENSP00000446274:L709F;ENSP00000219821:L463F	ENSP00000219821:L463F	L	+	1	0	TMC5	19396297	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.683000	0.46943	2.112000	0.64535	0.655000	0.94253	CTT	.	.	none		0.388	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19488796	C	T	19488796	3	4	10	1	0	0	0	0	1	0	0	0	15985	913	32	2	2481	2	TMC5	16	19488796	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3244363	19488796	70865957	312	2152										
LCMT1	51451	hgsc.bcm.edu	37	chr16	25186263	25186263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	taattctttccacaggatagAatcacttgaattcctggatg	7	8	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:25186263A>G	ENST00000399069.3	+	10	1045	c.890A>G	c.(889-891)gAa>gGa	p.E297G	LCMT1_ENST00000380966.4_Missense_Mutation_p.E242G|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	297					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CACAGGATAGAATCACTTGAA	0.428																																					p.E297G	Colon(200;565 2072 24396 47922 50898)	Atlas-SNP	.											.	LCMT1	22	.	0			c.A890G						PASS	.						57	55	56					16																	25186263		1850	4091	5941	SO:0001583	missense	51451	exon10			GGATAGAATCACT	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.890A>G	16.37:g.25186263A>G	ENSP00000382021:p.Glu297Gly	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	85	18	0.211765	NM_016309	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207519	0.58343	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.24350	1.86;1.86	5.15	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.53337	-0.8453	10	0.87932	D	0	-25.0191	9.3407	0.38079	0.8194:0.1806:0.0:0.0	.	242;297	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	G	297;242;314	ENSP00000382021:E297G;ENSP00000370353:E242G	ENSP00000370349:E314G	E	+	2	0	LCMT1	25093764	1.000000	0.71417	0.875000	0.34327	0.525000	0.34531	7.428000	0.80296	0.900000	0.36469	0.533000	0.62120	GAA	.	.	none		0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		G	25186263	A	G	25186263	3	3	10	1	0	0	0	0	1	0	0	0	8678	246	9	2	928	2	LCMT1	16	25186263	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	5697467	25186263	65168490	313	2153										
IL4R	3566	hgsc.bcm.edu	37	chr16	27373599	27373599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaagaattgtcttaccaagcTcttgccctgttttctggagc	9	10	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:27373599T>C	ENST00000395762.2	+	11	1185	c.926T>C	c.(925-927)cTc>cCc	p.L309P	IL4R_ENST00000380922.3_Missense_Mutation_p.L294P|IL4R_ENST00000170630.2_Missense_Mutation_p.L309P|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.L309P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	309					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTACCAAGCTCTTGCCCTGT	0.468																																					p.L309P		Atlas-SNP	.											.	IL4R	70	.	0			c.T926C						PASS	.						84	93	90					16																	27373599		2197	4300	6497	SO:0001583	missense	3566	exon11			CCAAGCTCTTGCC	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.926T>C	16.37:g.27373599T>C	ENSP00000379111:p.Leu309Pro	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	129	21	0.162791	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657837	0.67586	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.8	4.8	0.61643	.	0.430475	0.18627	N	0.135694	T	0.37019	0.0988	M	0.62723	1.935	0.48087	D	0.999589	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.08289	-1.0729	10	0.62326	D	0.03	-23.6721	10.7721	0.46330	0.0:0.0:0.0:1.0	.	294;309;309	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	P	309;309;294;309	ENSP00000379111:L309P;ENSP00000441667:L309P;ENSP00000370309:L294P;ENSP00000170630:L309P	ENSP00000170630:L309P	L	+	2	0	IL4R	27281100	1.000000	0.71417	0.980000	0.43619	0.957000	0.61999	3.498000	0.53302	1.801000	0.52704	0.533000	0.62120	CTC	.	.	none		0.468	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27373599	T	C	27373599	3	2	10	1	0	0	0	0	1	0	0	0	7698	1551	54	3	978	3	IL4R	16	27373599	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	2187336	27373599	62981154	314	2154										
ATXN2L	11273	hgsc.bcm.edu	37	chr16	28845868	28845884	+	Frame_Shift_Del	DEL	TCAGCCCCGCCGATGAT	TCAGCCCCGCCGATGAT	-													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cggaccaacaccagccagccTcagccccgccgatgatgcag					rs147688158|rs367754572		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	TCAGCCCCGCCGATGAT	TCAGCCCCGCCGATGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:28845868_28845884delTCAGCCCCGCCGATGAT	ENST00000336783.4	+	18	2454_2470	c.2287_2303delTCAGCCCCGCCGATGAT	c.(2287-2304)tcagccccgccgatgatgfs	p.SAPPMM763fs	ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.SAPPMM763fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.SAPPMM769fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.SAPPMM763fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.SAPPMM763fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.SAPPMM763fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.SAPPMM763fs|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	763					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGCCAGCCTCAGCCCCGCCGATGATGCAGGCCGCC	0.668																																					p.762_768del		Atlas-Indel	.											.	ATXN2L	159	.	0			c.2286_2302del						PASS	.																																			SO:0001589	frameshift_variant	11273	exon18			.		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2287_2303delTCAGCCCCGCCGATGAT	16.37:g.28845868_28845884delTCAGCCCCGCCGATGAT	ENSP00000338718:p.Ser763fs	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	24	11	0.458333	NM_148416	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	CCDS10641.1																																																																																			.	.	none		0.668	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		-	28845884	TCAGCCCCGCCGATGAT	-	28845868	7	5	10	1	0	1	0	1	0	0	0	0	1212	1551	54	0	2357	0	ATXN2L	16	28845868	Frame_Shift_Del	DEL	TCAGCCCCGCCGATGAT	TCGA-FF-8041-01A-11D-2210-10	1472269	28845868	61508885	315	2155										
SALL1	6299	hgsc.bcm.edu	37	chr16	51171056	51171056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atctccttgctgtcctccacGaagcgggtgaagcggaagtt	12	11	1	1	rs189411650	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:51171056G>A	ENST00000251020.4	-	3	3975	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F137F|SALL1_ENST00000440970.1_Silent_p.F1217F	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1314					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTCCTCCACGAAGCGGGTGA	0.562													G|||	19	0.00379393	0.0	0.0058	5008	,	,		15436	0.0		0.0	False		,,,				2504	0.0153				p.F1314F	GBM(103;1352 1446 1855 4775 8890)	Atlas-SNP	.											SALL1,colon,carcinoma,0,2	SALL1	301	2	0			c.C3942T						scavenged	.						66	57	60					16																	51171056		2198	4300	6498	SO:0001819	synonymous_variant	6299	exon3			CTCCACGAAGCGG	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3942C>T	16.37:g.51171056G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	122	3	0.0245902	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																			G|0.999;A|0.001	0.001	strong		0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		A	51171056	G	A	51171056	2	1	10	1	0	0	0	0	0	0	0	1	13810	1049	37	1		1	SALL1	16	51171056	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	22325188	51171056	39183697	316	2156										
SLC9A5	6553	hgsc.bcm.edu	37	chr16	67291451	67291451	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tagacttttgaccacattctGgctgcagtggaggacgttgt	12	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:67291451G>T	ENST00000299798.11	+	9	1508	c.1443G>T	c.(1441-1443)ctG>ctT	p.L481L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	481					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCACATTCTGGCTGCAGTGG	0.622																																					p.L481L		Atlas-SNP	.											SLC9A5,NS,carcinoma,+2,1	SLC9A5	82	1	0			c.G1443T						scavenged	.						74	78	77					16																	67291451		1977	4137	6114	SO:0001819	synonymous_variant	6553	exon9			CATTCTGGCTGCA		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1443G>T	16.37:g.67291451G>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	175	2	0.0114286	NM_004594	A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																			.	.	none		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			T	67291451	G	T	67291451	2	4	10	1	0	0	0	0	0	0	0	1	14717	1335	47	4		4	SLC9A5	16	67291451	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	16120395	67291451	23063302	317	2157										
CYB5B	80777	hgsc.bcm.edu	37	chr16	69496394	69496394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcttaggtttcctgtaccgcTactacacatcggaaagcaaa	7	11	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:69496394T>C	ENST00000512062.1	+	5	583	c.412T>C	c.(412-414)Tac>Cac	p.Y138H	RP11-140H17.1_ENST00000567834.1_RNA|CYB5B_ENST00000515314.1_Missense_Mutation_p.L118P|CYB5B_ENST00000307892.8_Missense_Mutation_p.Y142H|CYB5B_ENST00000561792.1_Missense_Mutation_p.L127P			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	138					oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CCTGTACCGCTACTACACATC	0.463																																					p.Y142H		Atlas-SNP	.											CYB5B,NS,carcinoma,-1,1	CYB5B	12	1	0			c.T424C						scavenged	.						120	113	115					16																	69496394		1867	4102	5969	SO:0001583	missense	80777	exon5			TACCGCTACTACA		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.412T>C	16.37:g.69496394T>C	ENSP00000423679:p.Tyr138His	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	149	2	0.0134228	NM_030579	A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.25|13.25	2.180392|2.180392	0.38511|0.38511	.|.	.|.	ENSG00000103018|ENSG00000103018	ENST00000515314|ENST00000512062;ENST00000307892	D|T;T	0.84589|0.11821	-1.87|2.74;2.74	5.89|5.89	3.62|3.62	0.41486|0.41486	.|Aquaporin-like (1);	.|0.224693	.|0.47852	.|N	.|0.000212	T|T	0.11410|0.11410	0.0278|0.0278	L|L	0.49455|0.49455	1.56|1.56	0.32579|0.32579	N|N	0.528701|0.528701	P|B	0.42039|0.06786	0.769|0.001	B|B	0.39840|0.08055	0.311|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	9|10	0.72032|0.22109	D|T	0.01|0.4	-0.3787|-0.3787	6.397|6.397	0.21618|0.21618	0.0:0.2105:0.0:0.7895|0.0:0.2105:0.0:0.7895	.|.	118|138	D6RFH4|O43169	.|CYB5B_HUMAN	P|H	118|138;142	ENSP00000421492:L118P|ENSP00000423679:Y138H;ENSP00000308430:Y142H	ENSP00000421492:L118P|ENSP00000308430:Y142H	L|Y	+|+	2|1	0|0	CYB5B|CYB5B	68053895|68053895	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.829000|0.829000	0.46940|0.46940	1.641000|1.641000	0.37197|0.37197	0.489000|0.489000	0.27749|0.27749	0.482000|0.482000	0.46254|0.46254	CTA|TAC	.	.	none		0.463	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		C	69496394	T	C	69496394	3	2	10	1	0	0	0	0	1	0	0	0	4123	1522	53	3	442	3	CYB5B	16	69496394	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	2204943	69496394	20858359	318	2158										
ZNF821	55565	hgsc.bcm.edu	37	chr16	71894070	71894070	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtcctggccaaactgagctcGcaacatcatgtccattttct	7	13	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:71894070G>A	ENST00000565601.1	-	7	1497	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	ZNF821_ENST00000425432.1_Nonsense_Mutation_p.R364*|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000313565.6_Nonsense_Mutation_p.R322*|ZNF821_ENST00000446827.2_Nonsense_Mutation_p.R322*	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						AACTGAGCTCGCAACATCATG	0.587																																					p.R364X		Atlas-SNP	.											ZNF821,NS,carcinoma,+1,1	ZNF821	25	1	0			c.C1090T						scavenged	.						88	78	81					16																	71894070		2198	4300	6498	SO:0001587	stop_gained	55565	exon7			GAGCTCGCAACAT	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1090C>T	16.37:g.71894070G>A	ENSP00000455648:p.Arg364*	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	178	2	0.011236	NM_001201553	A6NK48|B4DKK4|D3DWS3	Nonsense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.075471	0.97262	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	.	.	.	6.1	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5882	16.2453	0.82441	0.0:0.0:0.6664:0.3336	.	.	.	.	X	364;322;322	.	ENSP00000313822:R322X	R	-	1	2	ZNF821	70451571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.100000	0.41777	0.188000	0.20168	0.650000	0.86243	CGA	.	.	none		0.587	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		A	71894070	G	A	71894070	4	1	10	1	0	0	0	0	0	1	0	0	18175	1095	38	1	152	1	ZNF821	16	71894070	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2397676	71894070	18460683	319	2159										
ZFHX3	463	hgsc.bcm.edu	37	chr16	72830109	72830109	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaaatattgccgcaagactcGgagctgatcatctgtgatcc	9	10	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:72830109G>A	ENST00000268489.5	-	9	7144	c.6472C>T	c.(6472-6474)Cga>Tga	p.R2158*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.R1244*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2158					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2158*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCAAGACTCGGAGCTGATCA	0.527																																					p.R2158X		Atlas-SNP	.											ZFHX3,NS,carcinoma,0,1	ZFHX3	404	1	1	Substitution - Nonsense(1)	breast(1)	c.C6472T						scavenged	.						71	68	69					16																	72830109		2198	4300	6498	SO:0001587	stop_gained	463	exon9			AGACTCGGAGCTG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6472C>T	16.37:g.72830109G>A	ENSP00000268489:p.Arg2158*	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	198	4	0.020202	NM_006885	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	49	16.052298	0.99853	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.51	5.51	0.81932	.	0.000000	0.41396	D	0.000894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.4414	0.61114	0.0:0.0:0.7375:0.2625	.	.	.	.	X	2158;1244	.	ENSP00000268489:R2158X	R	-	1	2	ZFHX3	71387610	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.772000	0.38552	2.570000	0.86706	0.561000	0.74099	CGA	.	.	none		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72830109	G	A	72830109	4	1	10	1	0	0	0	0	0	1	0	0	17631	1124	39	1	4647	1	ZFHX3	16	72830109	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	936039	72830109	17524644	320	2160										
CHST5	23563	hgsc.bcm.edu	37	chr16	75563962	75563962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acggccatgtgcagcgttgcCgcgctgccctgcgacagggt	15	14	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr16:75563962C>T	ENST00000336257.3	-	3	1715	c.321G>A	c.(319-321)gcG>gcA	p.A107A	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.A113A	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	107					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCAGCGTTGCCGCGCTGCCCT	0.612																																					p.A107A		Atlas-SNP	.											CHST5,colon,carcinoma,-1,2	CHST5	47	2	0			c.G321A						scavenged	.						57	50	53					16																	75563962		2198	4300	6498	SO:0001819	synonymous_variant	23563	exon3			CGTTGCCGCGCTG	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.321G>A	16.37:g.75563962C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	CCDS10919.1																																																																																			.	.	none		0.612	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		T	75563962	C	T	75563962	2	4	10	1	0	0	0	0	0	0	0	1	3407	639	23	1		1	CHST5	16	75563962	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2733853	75563962	14790791	321	2161										
RNMTL1	51031	hgsc.bcm.edu	37	chr17	685705	685705	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaccttgacgcgaggcgctgGgtccgggcgctgcggcggag	20	12	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:685705G>A	ENST00000301328.5	-	0	0				RNMTL1_ENST00000304478.4_Nonsense_Mutation_p.W29*|GLOD4_ENST00000536578.1_5'Flank|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGAGGCGCTGGGTCCGGGCGC	0.667																																					p.W29X		Atlas-SNP	.											.	RNMTL1	25	.	0			c.G87A						PASS	.						31	35	34					17																	685705		2203	4299	6502	SO:0001631	upstream_gene_variant	55178	exon1			GCGCTGGGTCCGG	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685705G>A	Exception_encountered	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	35	21	0.6	NM_018146	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Nonsense_Mutation	SNP	ENST00000301328.5	37		.	.	.	.	.	.	.	.	.	.	G	36	5.630251	0.96671	.	.	ENSG00000171861	ENST00000304478	.	.	.	5.5	4.51	0.55191	.	0.465011	0.25355	N	0.031276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.268	0.43466	0.0:0.1477:0.6992:0.1531	.	.	.	.	X	29	.	.	W	+	3	0	RNMTL1	632455	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.774000	0.38573	1.410000	0.46936	0.563000	0.77884	TGG	.	.	none		0.667	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		A	685705	G	A	685705	1	1	10	0	1	0	0	0	0	0	0	0	13507	1241	43	2		2	RNMTL1	17	685705	5'Flank	SNP	G	TCGA-FF-8041-01A-11D-2210-10		685705	80509505	322	2162										
DLG4	1742	hgsc.bcm.edu	37	chr17	7096397	7096397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acgacacaaagtggtaatccCggccatctatctcatactcc	6	14	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:7096397C>A	ENST00000399506.2	-	17	1924	c.1733G>T	c.(1732-1734)cGg>cTg	p.R578L	DLG4_ENST00000399510.2_Missense_Mutation_p.R621L|DLG4_ENST00000302955.6_Missense_Mutation_p.R575L			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	578	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTGGTAATCCCGGCCATCTAT	0.547																																					p.R621L		Atlas-SNP	.											DLG4_ENST00000302955,caecum,carcinoma,0,2	DLG4	110	2	0			c.G1862T						scavenged	.						128	131	130					17																	7096397		1984	4166	6150	SO:0001583	missense	1742	exon19			TAATCCCGGCCAT	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1733G>T	17.37:g.7096397C>A	ENSP00000382425:p.Arg578Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	174	2	0.0114943	NM_001365	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.463857	0.84425	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.45276	0.9;0.9;0.9	4.09	4.09	0.47781	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.	.	.	.	T	0.59770	0.2218	M	0.74546	2.27	0.58432	D	0.999998	D;D;D;D	0.89917	0.996;0.973;1.0;0.988	D;D;D;D	0.91635	0.948;0.919;0.999;0.994	T	0.62320	-0.6879	9	0.66056	D	0.02	.	7.6128	0.28139	0.0:0.8866:0.0:0.1134	.	618;578;575;621	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	L	578;575;621;621;518;621	ENSP00000382425:R578L;ENSP00000307471:R575L;ENSP00000382428:R621L	ENSP00000293813:R621L	R	-	2	0	DLG4	7037121	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	2.121000	0.41977	2.118000	0.64928	0.655000	0.94253	CGG	.	.	none		0.547	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		A	7096397	C	A	7096397	3	1	10	1	0	0	0	0	1	0	0	0	4557	652	23	4	457	4	DLG4	17	7096397	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	6410692	7096397	74098813	323	2163										
MYH2	4620	hgsc.bcm.edu	37	chr17	10428646	10428646	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctccttctgcaatctgttcCgtgaggtcagaaatctcctc	7	14	4	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:10428646C>A	ENST00000245503.5	-	33	4941	c.4557G>T	c.(4555-4557)acG>acT	p.T1519T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.T1519T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1519					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1519T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAATCTGTTCCGTGAGGTCAG	0.388																																					p.T1519T		Atlas-SNP	.											MYH2,NS,carcinoma,0,2	MYH2	390	2	1	Substitution - coding silent(1)	kidney(1)	c.G4557T						scavenged	.						100	88	92					17																	10428646		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon33			CTGTTCCGTGAGG		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4557G>T	17.37:g.10428646C>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																			.	.	none		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10428646	C	A	10428646	2	1	10	1	0	0	0	0	0	0	0	1	10035	639	23	4		4	MYH2	17	10428646	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3332249	10428646	70766564	324	2164										
DHRS7B	25979	hgsc.bcm.edu	37	chr17	21092024	21092024	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctctccgtccacatgtgtagAtgcagcctccaagcacgcaa	8	15	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:21092024A>G	ENST00000395511.3	+	6	940	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	DHRS7B_ENST00000579303.1_Splice_Site_p.Y192C|DHRS7B_ENST00000581463.1_Splice_Site_p.Y27C	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						ACATGTGTAGATGCAGCCTCC	0.547																																					p.Y207C		Atlas-SNP	.											.	DHRS7B	27	.	0			c.A620G						PASS	.						225	183	197					17																	21092024		2203	4300	6503	SO:0001630	splice_region_variant	25979	exon6			GTGTAGATGCAGC	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.620-1A>G	17.37:g.21092024A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_015510	B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	9.784	1.176052	0.21704	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.97352	-4.35	5.28	5.28	0.74379	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.055538	0.85682	N	0.000000	D	0.98940	0.9640	H	0.97186	3.955	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.99482	1.0948	9	.	.	.	.	15.2134	0.73244	1.0:0.0:0.0:0.0	.	207	Q6IAN0	DRS7B_HUMAN	C	207	ENSP00000378887:Y207C	.	Y	+	2	0	DHRS7B	21032616	1.000000	0.71417	0.897000	0.35233	0.109000	0.19521	9.179000	0.94861	2.001000	0.58596	0.383000	0.25322	TAT	.	.	none		0.547	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Missense_Mutation	G	21092024	A	G	21092024	5	3	10	1	0	0	0	0	0	0	1	0	4496	347	12	2	642	2	DHRS7B	17	21092024	Splice_Site	SNP	A	TCGA-FF-8041-01A-11D-2210-10	10663378	21092024	60103186	325	2165										
SARM1	23098	hgsc.bcm.edu	37	chr17	26708753	26708753	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagcgcctcgtgccgttgctCgactctaaccgcttggaggc	12	15	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:26708753C>T	ENST00000457710.3	+	2	1371	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	334					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGCCGTTGCTCGACTCTAACC	0.677																																					p.L333L		Atlas-SNP	.											.	SARM1	40	.	0			c.C999T						PASS	.						11	13	12					17																	26708753		2134	4199	6333	SO:0001819	synonymous_variant	23098	exon3			GTTGCTCGACTCT	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.900C>T	17.37:g.26708753C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	38	4	0.105263	NM_015077	O60277|Q7LGG3|Q9NXY5	Silent	SNP	ENST00000457710.3	37																																																																																				.	.	none		0.677	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		T	26708753	C	T	26708753	2	4	10	1	0	0	0	0	0	0	0	1	13842	871	31	1		1	SARM1	17	26708753	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5616729	26708753	54486457	326	2166										
CCDC55	84081	hgsc.bcm.edu	37	chr17	28511766	28511766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagatgcagacagtgacttcGatgctaagagcagtgcggat	13	8	0	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:28511766G>A	ENST00000247026.5	+	7	814	c.751G>A	c.(751-753)Gat>Aat	p.D251N	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	251					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGTGACTTCGATGCTAAGAG	0.418																																					p.D251N		Atlas-SNP	.											NSRP1,lower_third,carcinoma,0,1	NSRP1	49	1	0			c.G751A						scavenged	.						76	71	73					17																	28511766		2203	4300	6503	SO:0001583	missense	84081	exon7			GACTTCGATGCTA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.751G>A	17.37:g.28511766G>A	ENSP00000247026:p.Asp251Asn	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	207	3	0.0144928	NM_032141	Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151233	0.57151	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.48836	0.8	5.97	5.97	0.96955	.	0.399046	0.29280	N	0.012608	T	0.41903	0.1179	L	0.56769	1.78	0.80722	D	1	P	0.36483	0.555	B	0.23716	0.048	T	0.30238	-0.9985	10	0.25106	T	0.35	-7.5625	17.5657	0.87919	0.0:0.0:1.0:0.0	.	251	Q9H0G5	NSRP1_HUMAN	N	251;182;197	ENSP00000247026:D251N	ENSP00000247026:D251N	D	+	1	0	NSRP1	25535892	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.131000	0.50515	2.828000	0.97474	0.650000	0.86243	GAT	.	.	none		0.418	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		A	28511766	G	A	28511766	3	1	10	1	0	0	0	0	1	0	0	0	2825	1058	37	1	777	1	CCDC55	17	28511766	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1803013	28511766	52683444	327	2167										
RAB11FIP4	84440	hgsc.bcm.edu	37	chr17	29850575	29850575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agcagcagcaatggcagcacCgaagacctgttccgggacag	13	12	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:29850575C>T	ENST00000325874.8	+	8	1204	c.975C>T	c.(973-975)acC>acT	p.T325T	RAB11FIP4_ENST00000394744.2_Silent_p.T223T	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	325	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ATGGCAGCACCGAAGACCTGT	0.607																																					p.T325T		Atlas-SNP	.											RAB11FIP4,caecum,carcinoma,0,1	RAB11FIP4	65	1	0			c.C975T						scavenged	.						158	145	150					17																	29850575		2203	4300	6503	SO:0001819	synonymous_variant	84440	exon8			CAGCACCGAAGAC	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.975C>T	17.37:g.29850575C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	268	6	0.0223881	NM_032932	Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	ENST00000325874.8	37	CCDS11267.1																																																																																			.	.	none		0.607	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		T	29850575	C	T	29850575	2	4	10	1	0	0	0	0	0	0	0	1	12896	639	23	1		1	RAB11FIP4	17	29850575	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1338809	29850575	51344635	328	2168										
UNC45B	146862	hgsc.bcm.edu	37	chr17	33504529	33504529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aacaggtgtatgaggtggtgCggccccttgtaagactcttg	14	8	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:33504529C>T	ENST00000268876.5	+	17	2258	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	UNC45B_ENST00000433649.1_Missense_Mutation_p.R719W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R640W|UNC45B_ENST00000591048.1_Missense_Mutation_p.R640W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R719W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	721					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGGTGGTGCGGCCCCTTGT	0.542																																					p.R721W		Atlas-SNP	.											UNC45B,NS,carcinoma,-1,2	UNC45B	133	2	0			c.C2161T						PASS	.						44	30	35					17																	33504529		2201	4293	6494	SO:0001583	missense	146862	exon17			GTGGTGCGGCCCC	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2161C>T	17.37:g.33504529C>T	ENSP00000268876:p.Arg721Trp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	101	41	0.405941	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502276	0.64298	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.51325	3.54;1.52;0.71	5.3	3.21	0.36854	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.92923	3.36	0.51482	D	0.999929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.79729	-0.1681	10	0.87932	D	0	-29.8644	12.8752	0.57986	0.4433:0.5567:0.0:0.0	.	640;719;721	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	721;721;719;640	ENSP00000268876:R721W;ENSP00000412840:R719W;ENSP00000367710:R640W	ENSP00000268876:R721W	R	+	1	2	UNC45B	30528642	0.984000	0.35163	1.000000	0.80357	0.787000	0.44495	1.138000	0.31491	0.725000	0.32318	0.563000	0.77884	CGG	.	.	none		0.542	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33504529	C	T	33504529	3	4	10	1	0	0	0	0	1	0	0	0	16986	759	27	1	2223	1	UNC45B	17	33504529	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3653954	33504529	47690681	329	2169										
SLFN11	91607	hgsc.bcm.edu	37	chr17	33680037	33680037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agtgatgctttttgccttccCataccagtccccatcttcag	6	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:33680037C>T	ENST00000394566.1	-	7	2316	c.2044G>A	c.(2044-2046)Ggg>Agg	p.G682R	SLFN11_ENST00000308377.4_Missense_Mutation_p.G682R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	682					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.G682R(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGCCTTCCCATACCAGTCC	0.468																																					p.G682R		Atlas-SNP	.											SLFN11,NS,carcinoma,0,1	SLFN11	112	1	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.G2044A						scavenged	.						152	149	150					17																	33680037		2203	4300	6503	SO:0001583	missense	91607	exon5			CCTTCCCATACCA	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2044G>A	17.37:g.33680037C>T	ENSP00000378067:p.Gly682Arg	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	176	2	0.0113636	NM_152270	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	7.153	0.584094	0.13749	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.80909	-1.43;-1.43	4.0	-1.57	0.08506	.	1.460060	0.04413	N	0.366411	T	0.68742	0.3034	L	0.33485	1.01	0.19575	N	0.999964	B	0.09022	0.002	B	0.12156	0.007	T	0.48570	-0.9024	10	0.16420	T	0.52	.	7.3033	0.26432	0.0:0.4518:0.0:0.5482	.	682	Q7Z7L1	SLN11_HUMAN	R	682	ENSP00000312402:G682R;ENSP00000378067:G682R	ENSP00000312402:G682R	G	-	1	0	SLFN11	30704150	0.000000	0.05858	0.303000	0.25071	0.313000	0.28021	-2.684000	0.00835	-0.118000	0.11851	-0.140000	0.14226	GGG	.	.	none		0.468	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		T	33680037	C	T	33680037	3	4	10	1	0	0	0	0	1	0	0	0	14733	594	21	2	665	2	SLFN11	17	33680037	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	175508	33680037	47515173	330	2170										
SLFN11	91607	hgsc.bcm.edu	37	chr17	33689860	33689860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggagcttctgagaacactgCacagcagaagggatttactc	12	9	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:33689860C>T	ENST00000394566.1	-	4	1239	c.967G>A	c.(967-969)Gca>Aca	p.A323T	SLFN11_ENST00000308377.4_Missense_Mutation_p.A323T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	323					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGAACACTGCACAGCAGAAG	0.473																																					p.A323T		Atlas-SNP	.											SLFN11,right_upper_lobe,carcinoma,0,1	SLFN11	112	1	0			c.G967A						scavenged	.						134	123	127					17																	33689860		2203	4300	6503	SO:0001583	missense	91607	exon2			ACACTGCACAGCA	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.967G>A	17.37:g.33689860C>T	ENSP00000378067:p.Ala323Thr	Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	398	4	0.0100503	NM_152270	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102264	0.56183	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.59364	0.27;0.27	4.32	1.13	0.20643	.	0.196095	0.25230	N	0.032176	T	0.60881	0.2303	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.54100	0.742	T	0.52177	-0.8610	10	0.56958	D	0.05	.	4.5775	0.12241	0.0:0.6095:0.183:0.2075	.	323	Q7Z7L1	SLN11_HUMAN	T	323	ENSP00000312402:A323T;ENSP00000378067:A323T	ENSP00000312402:A323T	A	-	1	0	SLFN11	30713973	0.256000	0.24012	0.146000	0.22360	0.005000	0.04900	0.493000	0.22451	0.463000	0.27118	0.650000	0.86243	GCA	.	.	none		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		T	33689860	C	T	33689860	3	4	10	1	0	0	0	0	1	0	0	0	14733	710	25	2	1754	2	SLFN11	17	33689860	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	9823	33689860	47505350	331	2171										
PIGW	284098	hgsc.bcm.edu	37	chr17	34894125	34894125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tagtagtttattactgggtgAtataattttgagttttgcca	9	3	0	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:34894125A>G	ENST00000592983.1	+	2	1755	c.1175A>G	c.(1174-1176)gAt>gGt	p.D392G	PIGW_ENST00000328396.2_Missense_Mutation_p.D392G|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	392					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACTGGGTGATATAATTTTG	0.338																																					p.D392G		Atlas-SNP	.											.	PIGW	50	.	0			c.A1175G						PASS	.						61	65	64					17																	34894125		2192	4296	6488	SO:0001583	missense	284098	exon2			TGGGTGATATAAT	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1175A>G	17.37:g.34894125A>G	ENSP00000468778:p.Asp392Gly	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	57	25	0.438596	NM_178517	Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181962	0.38511	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.79	4.72	0.59763	.	0.105198	0.64402	N	0.000006	T	0.41581	0.1165	N	0.16833	0.445	0.52501	D	0.999957	B	0.29162	0.235	B	0.34824	0.19	T	0.19877	-1.0292	8	.	.	.	-4.2695	10.3149	0.43732	0.922:0.0:0.078:0.0	.	392	Q7Z7B1	PIGW_HUMAN	G	392	.	.	D	+	2	0	PIGW	31968238	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.836000	0.75349	1.039000	0.40074	0.459000	0.35465	GAT	.	.	none		0.338	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		G	34894125	A	G	34894125	3	3	10	1	0	0	0	0	1	0	0	0	11902	333	12	2	1177	2	PIGW	17	34894125	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	1204265	34894125	46301085	332	2172										
ACACA	31	hgsc.bcm.edu	37	chr17	35598929	35598929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agacttcccgttcagatttcCggttcaatgtagctgcatgg	10	10	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:35598929C>T	ENST00000394406.2	-	23	3051	c.2861G>A	c.(2860-2862)cGg>cAg	p.R954Q	ACACA_ENST00000353139.5_Missense_Mutation_p.R991Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R876Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R896Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	954					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCAGATTTCCGGTTCAATGT	0.423																																					p.R991Q	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Atlas-SNP	.											ACACA_ENST00000353139,NS,carcinoma,+1,2	ACACA	395	2	0			c.G2972A						scavenged	.						141	126	131					17																	35598929		2203	4300	6503	SO:0001583	missense	31	exon23			GATTTCCGGTTCA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2861G>A	17.37:g.35598929C>T	ENSP00000377928:p.Arg954Gln	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	188	3	0.0159574	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395087	0.62066	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.053651	0.64402	D	0.000001	T	0.71762	0.3378	M	0.75447	2.3	0.80722	D	1	P;B;B	0.51537	0.946;0.021;0.018	P;B;B	0.53313	0.723;0.029;0.01	T	0.69045	-0.5249	10	0.21014	T	0.42	-13.0961	17.2142	0.86938	0.0:1.0:0.0:0.0	.	991;954;896	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	991;896;954;978;876	ENSP00000344789:R991Q;ENSP00000353898:R896Q;ENSP00000377928:R954Q;ENSP00000335323:R876Q	ENSP00000335323:R876Q	R	-	2	0	ACACA	32673042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.746000	0.62133	2.535000	0.85469	0.591000	0.81541	CGG	.	.	none		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35598929	C	T	35598929	3	4	10	1	0	0	0	0	1	0	0	0	106	652	23	1	4315	1	ACACA	17	35598929	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	704804	35598929	45596281	333	2173										
IGFBP4	3487	hgsc.bcm.edu	37	chr17	38612729	38612729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agctctggatgggcagcgtgGcaagtgctggtgtgtggacc	18	8	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:38612729G>A	ENST00000269593.4	+	4	946	c.671G>A	c.(670-672)gGc>gAc	p.G224D	IGFBP4_ENST00000542955.1_Missense_Mutation_p.G124D	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	224	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCAGCGTGGCAAGTGCTGG	0.627																																					p.G224D	GBM(160;940 3581 26177)	Atlas-SNP	.											.	IGFBP4	17	.	0			c.G671A						PASS	.						54	57	56					17																	38612729		2203	4300	6503	SO:0001583	missense	3487	exon4			AGCGTGGCAAGTG	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.671G>A	17.37:g.38612729G>A	ENSP00000269593:p.Gly224Asp	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	193	24	0.124352	NM_001552	A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110443	0.94292	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.70282	-0.47;-0.47	5.43	5.43	0.79202	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.80332	2.49	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.86889	0.2047	10	0.87932	D	0	-2.4357	17.0572	0.86537	0.0:0.0:1.0:0.0	.	224	P22692	IBP4_HUMAN	D	124;224	ENSP00000437734:G124D;ENSP00000269593:G224D	ENSP00000269593:G224D	G	+	2	0	IGFBP4	35866255	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.449000	0.90337	2.546000	0.85860	0.655000	0.94253	GGC	.	.	none		0.627	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		A	38612729	G	A	38612729	3	1	10	1	0	0	0	0	1	0	0	0	7581	1203	42	2	685	2	IGFBP4	17	38612729	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3013800	38612729	42582481	334	2174										
KRT12	3859	hgsc.bcm.edu	37	chr17	39021152	39021152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcagggtcagctcgtccagcAcccggcgcaggccattgatg	13	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:39021152A>T	ENST00000251643.4	-	3	736	c.713T>A	c.(712-714)gTg>gAg	p.V238E	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	238	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTCGTCCAGCACCCGGCGCAG	0.572																																					p.V238E		Atlas-SNP	.											.	KRT12	53	.	0			c.T713A						PASS	.						102	98	100					17																	39021152		2203	4300	6503	SO:0001583	missense	3859	exon3			TCCAGCACCCGGC		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.713T>A	17.37:g.39021152A>T	ENSP00000251643:p.Val238Glu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	148	26	0.175676	NM_000223	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	A	34	5.341017	0.95783	.	.	ENSG00000187242	ENST00000251643	D	0.88431	-2.38	5.96	5.96	0.96718	Filament (1);	0.000000	0.44688	D	0.000422	D	0.94961	0.8370	M	0.84585	2.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.95526	0.8599	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	238	Q99456	K1C12_HUMAN	E	238	ENSP00000251643:V238E	ENSP00000251643:V238E	V	-	2	0	KRT12	36274678	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.193000	0.94954	2.285000	0.76669	0.533000	0.62120	GTG	.	.	none		0.572	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		T	39021152	A	T	39021152	3	4	10	1	0	0	0	0	1	0	0	0	8449	159	6	5	795	5	KRT12	17	39021152	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	408423	39021152	42174058	335	2175										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctgccgccccagctgctgtCagaccacctgttgcaggacc	11	17	1	1	rs200397258	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	31	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632													c|||	90	0.0179712	0.0416	0.013	5008	,	,		15484	0.0198		0.004	False		,,,				2504	0.002				p.Q31E		Atlas-SNP	.											KRTAP4-9_ENST00000377734,right_lower_lobe,carcinoma,0,2	KRTAP4-7	49	2	0			c.C91G						scavenged	.						16	23	21					17																	39240549		692	1591	2283	SO:0001583	missense	100132476	exon1			TGCTGTCAGACCA	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.91C>G	17.37:g.39240549C>G	ENSP00000375236:p.Gln31Glu	Somatic	88	4	0.0454545		WXS	Illumina HiSeq	Phase_I	98	13	0.132653	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.541	-0.541861	0.04053	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00597	6.31	3.51	-5.02	0.02982	.	0.616411	0.13532	U	0.380865	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.39722	-0.9600	9	0.27785	T	0.31	.	7.7095	0.28669	0.3855:0.2289:0.3856:0.0	.	31	Q9BYR0	KRA47_HUMAN	E	31	ENSP00000375236:Q31E	ENSP00000375236:Q31E	Q	+	1	0	KRTAP4-9;KRTAP4-7	36494075	0.065000	0.20965	0.000000	0.03702	0.181000	0.23173	-0.407000	0.07178	-1.274000	0.02421	-0.505000	0.04504	CAG	.	.	weak		0.632	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240549	C	G	39240549	3	3	10	1	0	0	0	0	1	0	0	0	8555	827	29	4	93	4	KRTAP4-7	17	39240549	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	219397	39240549	41954661	336	2176										
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254124	39254124	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggggcttgcagcagctggaCacacagcagctggggcgaca	16	11	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:39254124C>G	ENST00000333822.4	-	1	269	c.213G>C	c.(211-213)gtG>gtC	p.V71V		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCAGCTGGACACACAGCAGC	0.667																																					p.V71V		Atlas-SNP	.											KRTAP4-8,colon,carcinoma,0,2	KRTAP4-8	57	2	0			c.G213C						scavenged	.						5	8	7					17																	39254124		620	1442	2062	SO:0001819	synonymous_variant	728224	exon1			GCTGGACACACAG	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.213G>C	17.37:g.39254124C>G		Somatic	44	2	0.0454545		WXS	Illumina HiSeq	Phase_I	65	10	0.153846	NM_031960	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																			.	.	none		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254124	C	G	39254124	2	3	10	1	0	0	0	0	0	0	0	1	8556	465	17	4		4	KRTAP4-8	17	39254124	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13575	39254124	41941086	337	2177										
GRN	2896	hgsc.bcm.edu	37	chr17	42430050	42430050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgtctgttgtgctgatcggCgccactgctgtcctgctggc	14	13	1	1	rs63750116		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:42430050C>T	ENST00000053867.3	+	13	1728	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	GRN_ENST00000589265.1_Missense_Mutation_p.R399C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	556					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGATCGGCGCCACTGCTG	0.682																																					p.R556C		Atlas-SNP	.											.	GRN	51	.	0			c.C1666T						PASS	.						62	65	64					17																	42430050		2203	4300	6503	SO:0001583	missense	2896	exon13			GATCGGCGCCACT	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1666C>T	17.37:g.42430050C>T	ENSP00000053867:p.Arg556Cys	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_002087	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388125	0.82902	.	.	ENSG00000030582	ENST00000053867;ENST00000357351;ENST00000393566	T	0.72725	-0.68	5.53	4.52	0.55395	Granulin (3);	0.909924	0.09476	N	0.797014	T	0.82148	0.4974	M	0.78801	2.425	0.09310	N	0.999999	D	0.76494	0.999	D	0.67725	0.953	T	0.68765	-0.5322	10	0.39692	T	0.17	-19.1959	9.4761	0.38873	0.1587:0.6877:0.1536:0.0	rs63750116	556	P28799	GRN_HUMAN	C	556;401;376	ENSP00000053867:R556C	ENSP00000053867:R556C	R	+	1	0	GRN	39785576	0.000000	0.05858	0.021000	0.16686	0.641000	0.38312	0.559000	0.23485	2.599000	0.87857	0.561000	0.74099	CGC	.	.	weak		0.682	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		T	42430050	C	T	42430050	3	4	10	1	0	0	0	0	1	0	0	0	6804	768	27	1	1712	1	GRN	17	42430050	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	3175926	42430050	38765160	338	2178										
PRAC	84366	hgsc.bcm.edu	37	chr17	46799191	46799191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcttcctgcctcggcctcccGaaattccagaattacaggct	7	15	1	1	rs554311327	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:46799191G>A	ENST00000290294.3	-	2	275	c.146C>T	c.(145-147)tCg>tTg	p.S49L	MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA|PRAC2_ENST00000422730.2_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1	49						nucleus (GO:0005634)											tcggcctcccgaaattccaga	0.398													G|||	4	0.000798722	0.0	0.0043	5008	,	,		13775	0.0		0.001	False		,,,				2504	0.0				p.S49L		Atlas-SNP	.											.	PRAC	6	.	0			c.C146T						PASS	.						33	41	38					17																	46799191		1327	2309	3636	SO:0001583	missense	84366	exon2			CCTCCCGAAATTC	AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"prostate, rectum and colon"	609819	"chromosome 17 open reading frame 92", "prostate cancer susceptibility candidate"	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899	ENST00000290294.3:c.146C>T	17.37:g.46799191G>A	ENSP00000290294:p.Ser49Leu	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	181	60	0.331492	NM_032391		Missense_Mutation	SNP	ENST00000290294.3	37	CCDS11535.1	.	.	.	.	.	.	.	.	.	.	G	5.599	0.295270	0.10622	.	.	ENSG00000159182	ENST00000290294	T	0.58652	0.32	0.664	-1.33	0.09172	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33548	-0.9864	7	0.87932	D	0	.	.	.	.	.	49	Q96KF2	PRAC_HUMAN	L	49	ENSP00000290294:S49L	ENSP00000290294:S49L	S	-	2	0	PRAC	44154190	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	-0.678000	0.05209	-0.355000	0.08199	-0.752000	0.03492	TCG	.	.	none		0.398	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358086.1	NM_032391		A	46799191	G	A	46799191	3	1	10	1	0	0	0	0	1	0	0	0	12421	1059	37	1	31	1	PRAC	17	46799191	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4369141	46799191	34396019	339	2179										
CA10	56934	hgsc.bcm.edu	37	chr17	49713329	49713329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaaactagaggtctctggatAtagttcctctatattaagcc	8	8	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:49713329A>G	ENST00000285273.4	-	8	1787	c.676T>C	c.(676-678)Tat>Cat	p.Y226H	CA10_ENST00000451037.2_Missense_Mutation_p.Y226H|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.Y226H|CA10_ENST00000340813.6_Missense_Mutation_p.Y232H|CA10_ENST00000570565.1_Missense_Mutation_p.Y151H	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	226					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GTCTCTGGATATAGTTCCTCT	0.388																																					p.Y226H		Atlas-SNP	.											.	CA10	84	.	0			c.T676C						PASS	.						114	109	110					17																	49713329		2203	4300	6503	SO:0001583	missense	56934	exon8			CTGGATATAGTTC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.676T>C	17.37:g.49713329A>G	ENSP00000285273:p.Tyr226His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_001082534	B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.021686	0.93462	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.16	6.16	0.99307	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.994	D;D;P	0.76071	0.987;0.987;0.873	T	0.81070	-0.1099	10	0.87932	D	0	.	15.9872	0.80168	1.0:0.0:0.0:0.0	.	226;232;151	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	H	226;226;226;232	ENSP00000390666:Y226H;ENSP00000285273:Y226H;ENSP00000405388:Y226H;ENSP00000340363:Y232H	ENSP00000285273:Y226H	Y	-	1	0	CA10	47068328	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	9.157000	0.94714	2.367000	0.80283	0.528000	0.53228	TAT	.	.	none		0.388	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		G	49713329	A	G	49713329	3	3	10	1	0	0	0	0	1	0	0	0	2511	449	16	2	322	2	CA10	17	49713329	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	2914138	49713329	31481881	340	2180										
ENGASE	64772	hgsc.bcm.edu	37	chr17	77079972	77079972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcctggaggatgcctggcacGgaggcagctccctgctcgtc	15	14	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:77079972G>A	ENST00000579016.1	+	10	1381	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	461						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCCTGGCACGGAGGCAGCTC	0.662																																					p.G461R		Atlas-SNP	.											ENGASE,lower_third,carcinoma,0,1	ENGASE	55	1	0			c.G1381A						scavenged	.						30	38	36					17																	77079972		2173	4249	6422	SO:0001583	missense	64772	exon10			TGGCACGGAGGCA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1381G>A	17.37:g.77079972G>A	ENSP00000462333:p.Gly461Arg	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	79	2	0.0253165	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962406	0.92791	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.80261	-0.1456	9	0.72032	D	0.01	-6.1571	18.2613	0.90037	0.0:0.0:1.0:0.0	.	461	Q8NFI3	ENASE_HUMAN	R	461	.	ENSP00000438577:G461R	G	+	1	0	ENGASE	74591567	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.354000	0.79424	2.377000	0.81083	0.561000	0.74099	GGA	.	.	none		0.662	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		A	77079972	G	A	77079972	3	1	10	1	0	0	0	0	1	0	0	0	5118	1117	39	1	1419	1	ENGASE	17	77079972	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	27366643	77079972	4115238	341	2181										
ZNF750	79755	hgsc.bcm.edu	37	chr17	80789538	80789538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggtgcgtcacactcaggcgAgctcccagccagcaggtaag	14	13	2	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr17:80789538A>G	ENST00000269394.3	-	2	1626	c.793T>C	c.(793-795)Tcg>Ccg	p.S265P	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	265					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CACTCAGGCGAGCTCCCAGCC	0.612																																					p.S265P		Atlas-SNP	.											ZNF750,colon,carcinoma,0,1	ZNF750	60	1	0			c.T793C						scavenged	.						74	80	78					17																	80789538		2203	4300	6503	SO:0001583	missense	79755	exon2			CAGGCGAGCTCCC	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.793T>C	17.37:g.80789538A>G	ENSP00000269394:p.Ser265Pro	Somatic	141	2	0.0141844		WXS	Illumina HiSeq	Phase_I	164	3	0.0182927	NM_024702	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	A	7.963	0.747384	0.15710	.	.	ENSG00000141579	ENST00000269394	T	0.15372	2.43	5.34	-10.7	0.00240	.	0.864820	0.10068	N	0.720061	T	0.10294	0.0252	L	0.55481	1.735	0.09310	N	0.999998	B	0.11235	0.004	B	0.11329	0.006	T	0.10941	-1.0608	9	.	.	.	-0.0571	3.6201	0.08092	0.1851:0.3862:0.3201:0.1085	.	265	Q32MQ0	ZN750_HUMAN	P	265	ENSP00000269394:S265P	.	S	-	1	0	ZNF750	78382827	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.687000	0.05156	-3.177000	0.00223	-0.250000	0.11733	TCG	.	.	none		0.612	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		G	80789538	A	G	80789538	3	3	10	1	0	0	0	0	1	0	0	0	18129	304	11	3	1386	3	ZNF750	17	80789538	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	3709566	80789538	405672	342	2182										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3094190	3094190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggccttcaaaaatttccttcTcgttaaatatgtagttgact	6	8	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:3094190T>C	ENST00000356443.4	-	26	4175	c.3842A>G	c.(3841-3843)gAg>gGg	p.E1281G	MYOM1_ENST00000261606.7_Missense_Mutation_p.E1185G|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1281G|RNU7-25P_ENST00000516544.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1281					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTTCCTTCTCGTTAAATAT	0.408																																					p.E1281G		Atlas-SNP	.											MYOM1,NS,carcinoma,-1,1	MYOM1	192	1	0			c.A3842G						scavenged	.						76	73	74					18																	3094190		1810	4079	5889	SO:0001583	missense	8736	exon26			TCCTTCTCGTTAA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3842A>G	18.37:g.3094190T>C	ENSP00000348821:p.Glu1281Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	83	2	0.0240964	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847199	0.71603	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.03094	4.05;4.05;4.05	5.55	5.55	0.83447	Immunoglobulin-like fold (1);	0.350509	0.35040	N	0.003491	T	0.04815	0.0130	L	0.29908	0.895	0.43287	D	0.995269	B;B	0.27229	0.172;0.107	B;B	0.33196	0.159;0.059	T	0.53549	-0.8423	10	0.26408	T	0.33	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1185;1281	P52179-2;P52179	.;MYOM1_HUMAN	G	1281;1281;1185	ENSP00000348821:E1281G;ENSP00000383413:E1281G;ENSP00000261606:E1185G	ENSP00000261606:E1185G	E	-	2	0	MYOM1	3084190	1.000000	0.71417	0.723000	0.30687	0.985000	0.73830	7.843000	0.86859	2.333000	0.79357	0.533000	0.62120	GAG	.	.	none		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		C	3094190	T	C	3094190	3	2	10	1	0	0	0	0	1	0	0	0	10091	1551	54	3	1267	3	MYOM1	18	3094190	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10		3094190	74983058	343	2183										
KIAA0802	23255	hgsc.bcm.edu	37	chr18	8824955	8824955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacgaggacagcacagagccTttccccgactcctcctggta	9	16	0	1	rs201573119		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:8824955T>C	ENST00000306329.11	+	13	4404	c.4404T>C	c.(4402-4404)ccT>ccC	p.P1468P	SOGA2_ENST00000359865.3_Silent_p.P1149P|SOGA2_ENST00000518815.1_Silent_p.P474P|SOGA2_ENST00000517570.1_Silent_p.P1108P|SOGA2_ENST00000400050.3_Silent_p.P1108P|SOGA2_ENST00000306285.7_Silent_p.P474P																							GCACAGAGCCTTTCCCCGACT	0.652																																					p.P1149P		Atlas-SNP	.											CCDC165,NS,carcinoma,+2,1	.	.	1	0			c.T3447C						scavenged	.						82	61	68					18																	8824955		2203	4299	6502	SO:0001819	synonymous_variant	23255	exon15			AGAGCCTTTCCCC																												ENST00000306329.11:c.4404T>C	18.37:g.8824955T>C		Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	78	2	0.025641	NM_015210		Silent	SNP	ENST00000306329.11	37																																																																																				T|0.999;A|0.001	.	alt		0.652	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			C	8824955	T	C	8824955	2	2	10	1	0	0	0	0	0	0	0	1	8194	1596	56	3		3	KIAA0802	18	8824955	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5730765	8824955	69252293	344	2184										
AFG3L2	10939	hgsc.bcm.edu	37	chr18	12356754	12356754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atccactaacggtgatgaagGggacattggcttctccggct	12	10	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:12356754G>A	ENST00000269143.3	-	9	1334	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	368					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GGTGATGAAGGGGACATTGGC	0.502																																					p.P368L		Atlas-SNP	.											.	AFG3L2	60	.	0			c.C1103T						PASS	.						166	124	138					18																	12356754		2203	4300	6503	SO:0001583	missense	10939	exon9			ATGAAGGGGACAT	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1103C>T	18.37:g.12356754G>A	ENSP00000269143:p.Pro368Leu	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_006796	Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231900	0.95207	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.80824	-1.42	5.28	5.28	0.74379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91042	0.4872	10	0.87932	D	0	-24.2564	19.282	0.94055	0.0:0.0:1.0:0.0	.	368	Q9Y4W6	AFG32_HUMAN	L	368;383	ENSP00000269143:P368L	ENSP00000269143:P368L	P	-	2	0	AFG3L2	12346754	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.631000	0.89168	0.563000	0.77884	CCC	.	.	none		0.502	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		A	12356754	G	A	12356754	3	1	10	1	0	0	0	0	1	0	0	0	360	1232	43	2	1326	2	AFG3L2	18	12356754	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3531799	12356754	65720494	345	2185										
CCDC11	220136	hgsc.bcm.edu	37	chr18	47753972	47753972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctgtactcctgggctaaacGttggcgtctaaagtattaga	10	9	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:47753972G>T	ENST00000398545.4	-	8	1441	c.1324C>A	c.(1324-1326)Cgt>Agt	p.R442S		NM_145020.3	NP_659457.2												p.R442C(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGGGCTAAACGTTGGCGTCTA	0.373																																					p.R442S		Atlas-SNP	.											CCDC11,caecum,carcinoma,0,1	CCDC11	59	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1324A						scavenged	.						177	167	171					18																	47753972		1914	4136	6050	SO:0001583	missense	220136	exon8			CTAAACGTTGGCG																												ENST00000398545.4:c.1324C>A	18.37:g.47753972G>T	ENSP00000381553:p.Arg442Ser	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	208	3	0.0144231	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	G	1.393	-0.580189	0.03854	.	.	ENSG00000172361	ENST00000398545	T	0.09538	2.97	5.5	-11.0	0.00169	.	2.891430	0.00961	N	0.003101	T	0.02455	0.0075	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36383	-0.9750	10	0.10377	T	0.69	21.8414	1.6502	0.02770	0.1564:0.2326:0.3121:0.2989	.	442	Q96M91	CCD11_HUMAN	S	442	ENSP00000381553:R442S	ENSP00000381553:R442S	R	-	1	0	CCDC11	46007970	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.318000	0.01121	-2.485000	0.00520	-1.899000	0.00529	CGT	.	.	none		0.373	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			T	47753972	G	T	47753972	3	4	10	1	0	0	0	0	1	0	0	0	2746	1145	40	4	224	4	CCDC11	18	47753972	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	35397218	47753972	30323276	346	2186										
MBD1	4152	hgsc.bcm.edu	37	chr18	47799097	47799097	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgggttccacccaggctgaaAatctccgtgatctagagaag	11	11	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:47799097A>G	ENST00000591416.1	-	15	2159	c.1728T>C	c.(1726-1728)atT>atC	p.I576I	MBD1_ENST00000347968.3_Silent_p.I520I|MBD1_ENST00000269471.5_Silent_p.I507I|MBD1_ENST00000398488.1_Silent_p.I474I|MBD1_ENST00000353909.3_Silent_p.I527I|MBD1_ENST00000587605.1_Silent_p.I474I|MBD1_ENST00000591535.1_Silent_p.I507I|MBD1_ENST00000382948.5_Silent_p.I576I|MBD1_ENST00000349085.2_Silent_p.I474I|MBD1_ENST00000436910.1_Silent_p.I507I|MBD1_ENST00000590208.1_Silent_p.I576I|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000588937.1_Silent_p.I507I|MBD1_ENST00000585672.1_Silent_p.I526I|MBD1_ENST00000269468.5_Silent_p.I576I|MBD1_ENST00000457839.2_Silent_p.I601I|MBD1_ENST00000424334.2_Silent_p.I627I|MBD1_ENST00000398495.2_Silent_p.I537I|MBD1_ENST00000398493.1_Silent_p.I520I|MBD1_ENST00000585595.1_Silent_p.I601I			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	576	TRD.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGCTGAAAATCTCCGTGA	0.577																																					p.I601I		Atlas-SNP	.											.	MBD1	228	.	0			c.T1803C						PASS	.						141	146	144					18																	47799097		2203	4300	6503	SO:0001819	synonymous_variant	4152	exon16			GCTGAAAATCTCC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1728T>C	18.37:g.47799097A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	105	27	0.257143	NM_001204137	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																			.	.	none		0.577	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		G	47799097	A	G	47799097	2	3	10	1	0	0	0	0	0	0	0	1	9342	10	1	2		2	MBD1	18	47799097	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	45125	47799097	30278151	347	2187										
ATP8B1	5205	hgsc.bcm.edu	37	chr18	55335757	55335757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgtagcttgtcttcaatagCtgtagctcccaggagctaga	10	10	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:55335757C>T	ENST00000283684.4	-	18	2112	c.2113G>A	c.(2113-2115)Gct>Act	p.A705T	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A705T|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	705					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)				TCTTCAATAGCTGTAGCTCCC	0.358																																					p.A705T		Atlas-SNP	.											ATP8B1,colon,carcinoma,+2,1	ATP8B1	126	1	0			c.G2113A						scavenged	.						102	90	94					18																	55335757		2203	4300	6503	SO:0001583	missense	5205	exon19			CAATAGCTGTAGC	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.2113G>A	18.37:g.55335757C>T	ENSP00000283684:p.Ala705Thr	Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358141	0.95854	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.73469	-0.75;-0.75	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95003	0.8145	10	0.87932	D	0	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	705	O43520	AT8B1_HUMAN	T	705	ENSP00000283684:A705T;ENSP00000445359:A705T	ENSP00000283684:A705T	A	-	1	0	ATP8B1	53486755	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.754000	0.85163	2.788000	0.95919	0.557000	0.71058	GCT	.	.	none		0.358	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		T	55335757	C	T	55335757	3	4	10	1	0	0	0	0	1	0	0	0	1194	797	28	2	1682	2	ATP8B1	18	55335757	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7536660	55335757	22741491	348	2188										
RAX	30062	hgsc.bcm.edu	37	chr18	56940307	56940307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaggtgccgaggatcccgtcGtccttggtaaaccccaggat	12	12	0	0	rs2271733	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr18:56940307G>T	ENST00000334889.3	-	1	318	c.132C>A	c.(130-132)gaC>gaA	p.D44E	RAX_ENST00000256852.7_Missense_Mutation_p.D44E	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	44			D -> E (in dbSNP:rs2271733). {ECO:0000269|PubMed:14662654}.		camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGATCCCGTCGTCCTTGGTAA	0.746													G|||	980	0.195687	0.1452	0.1571	5008	,	,		10556	0.128		0.3002	False		,,,				2504	0.2536				p.D44E	GBM(150;770 1898 17679 24325 37807)	Atlas-SNP	.											RAX,NS,carcinoma,0,1	RAX	19	1	0			c.C132A						scavenged	.	G	GLU/ASP	490,2640		39,412,1114	11	9	10		132	0.1	1	18	dbSNP_100	10	1484,4096		212,1060,1518	yes	missense	RAX	NM_013435.2	45	251,1472,2632	TT,TG,GG		26.595,15.655,22.6636	benign	44/347	56940307	1974,6736	1565	2790	4355	SO:0001583	missense	30062	exon1			CCCGTCGTCCTTG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.132C>A	18.37:g.56940307G>T	ENSP00000334813:p.Asp44Glu	Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	5	3	0.6	NM_013435	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	CCDS11972.1	453	0.20741758241758243	75	0.1524390243902439	69	0.19060773480662985	76	0.13286713286713286	233	0.3073878627968338	G	12.43	1.936984	0.34189	0.15655	0.26595	ENSG00000134438	ENST00000256852;ENST00000334889;ENST00000555288	T;D;T	0.87966	0.09;-2.32;0.09	5.56	0.117	0.14652	.	0.213892	0.50627	N	0.000107	T	0.00012	0.0000	N	0.12182	0.205	0.42455	P	0.0072349999999999914	B;B	0.22800	0.075;0.004	B;B	0.23574	0.047;0.009	T	0.06481	-1.0824	9	0.06365	T	0.9	.	0.4639	0.00520	0.2353:0.2064:0.3162:0.2421	rs2271733;rs58469971;rs2271733	44;44	Q86V11;Q9Y2V3	.;RX_HUMAN	E	44	ENSP00000256852:D44E;ENSP00000334813:D44E;ENSP00000450583:D44E	ENSP00000256852:D44E	D	-	3	2	RAX	55091287	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	-0.819000	0.04462	0.271000	0.22005	0.561000	0.74099	GAC	G|0.801;T|0.199	0.199	strong		0.746	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			T	56940307	G	T	56940307	3	4	10	1	0	0	0	0	1	0	0	0	13096	1136	40	4	920	4	RAX	18	56940307	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1604550	56940307	21136941	349	2189										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512945	4512945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttggccacattcatggcacCagtcaccccactacagacgg	8	15	2	1	rs75031432	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:4512945C>T	ENST00000301286.3	-	3	984	c.985G>A	c.(985-987)Ggt>Agt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					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						TTCATGGCACCAGTCACCCCA	0.567													C|||	840	0.167732	0.4539	0.1037	5008	,	,		18994	0.0119		0.0934	False		,,,				2504	0.0634				p.G329S		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.G985A						scavenged	.						39	40	39					19																	4512945		1862	4105	5967	SO:0001583	missense	729359	exon3			TGGCACCAGTCAC	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.985G>A	19.37:g.4512945C>T	ENSP00000301286:p.Gly329Ser	Somatic	376	3	0.00797872		WXS	Illumina HiSeq	Phase_I	348	6	0.0172414	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776204	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.13901	2.55	4.53	1.21	0.21127	.	0.420915	0.19796	N	0.105865	T	0.13543	0.0328	L	0.46157	1.445	0.80722	P	0.0	D	0.54397	0.966	P	0.45794	0.493	T	0.19353	-1.0308	9	0.87932	D	0	-15.096	7.3812	0.26856	0.0:0.7112:0.0:0.2888	rs56366613	329	Q96Q06	PLIN4_HUMAN	S	329	ENSP00000301286:G329S	ENSP00000301286:G329S	G	-	1	0	PLIN4	4463945	0.091000	0.21658	0.003000	0.11579	0.001000	0.01503	0.810000	0.27183	0.906000	0.36621	0.407000	0.27541	GGT	C|0.826;T|0.174	0.174	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512945	C	T	4512945	3	4	10	1	0	0	0	0	1	0	0	0	12092	594	21	2	3104	2	PLIN4	19	4512945	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10		4512945	54616038	350	2190										
C3	718	hgsc.bcm.edu	37	chr19	6694547	6694547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gatgaccgtgggcgtcatgcCgatcatgttctgttccccgc	12	13	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:6694547C>T	ENST00000245907.6	-	24	3141	c.3049G>A	c.(3049-3051)Ggc>Agc	p.G1017S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1017					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGCGTCATGCCGATCATGTTC	0.612																																					p.G1017S		Atlas-SNP	.											C3,NS,carcinoma,+1,1	C3	192	1	0			c.G3049A						scavenged	.						121	94	103					19																	6694547		2203	4300	6503	SO:0001583	missense	718	exon24			TCATGCCGATCAT	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3049G>A	19.37:g.6694547C>T	ENSP00000245907:p.Gly1017Ser	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	167	3	0.0179641	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	c	3.443	-0.113656	0.06881	.	.	ENSG00000125730	ENST00000245907	T	0.37752	1.18	5.76	-7.64	0.01286	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	1.059860	0.07133	N	0.845901	T	0.11537	0.0281	N	0.04355	-0.22	0.09310	N	1	P	0.38551	0.636	B	0.32677	0.15	T	0.23476	-1.0187	10	0.21540	T	0.41	.	6.9634	0.24610	0.1843:0.3314:0.0:0.4843	.	1017	P01024	CO3_HUMAN	S	1017	ENSP00000245907:G1017S	ENSP00000245907:G1017S	G	-	1	0	C3	6645547	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-4.085000	0.00298	-1.580000	0.01644	-2.299000	0.00261	GGC	.	.	none		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6694547	C	T	6694547	3	4	10	1	0	0	0	0	1	0	0	0	2204	652	23	1	2014	1	C3	19	6694547	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2181602	6694547	52434436	351	2191										
EMR1	2015	hgsc.bcm.edu	37	chr19	6919679	6919679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	caagctgaagatgaattctcGagtcgttgggggcataatga	13	6	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:6919679G>T	ENST00000312053.4	+	13	1578	c.1541G>T	c.(1540-1542)cGa>cTa	p.R514L	EMR1_ENST00000250572.8_Missense_Mutation_p.R514L|EMR1_ENST00000381404.4_Missense_Mutation_p.R462L|EMR1_ENST00000381407.5_Missense_Mutation_p.R373L|EMR1_ENST00000450315.3_Missense_Mutation_p.R337L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	514	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)	p.R514Q(1)		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)					ATGAATTCTCGAGTCGTTGGG	0.473																																					p.R514L		Atlas-SNP	.											EMR1,NS,carcinoma,0,1	EMR1	153	1	1	Substitution - Missense(1)	lung(1)	c.G1541T						scavenged	.						125	114	118					19																	6919679		2203	4300	6503	SO:0001583	missense	2015	exon13			ATTCTCGAGTCGT	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.1541G>T	19.37:g.6919679G>T	ENSP00000311545:p.Arg514Leu	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	130	2	0.0153846	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842936	0.32606	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79033	-1.16;-1.2;-1.23;-0.01;0.31	3.99	1.83	0.25207	.	.	.	.	.	T	0.81508	0.4837	M	0.74881	2.28	0.22066	N	0.999389	P;P;D;P;D	0.67145	0.949;0.896;0.996;0.935;0.992	P;B;P;B;P	0.56788	0.466;0.265;0.806;0.386;0.645	T	0.68074	-0.5505	9	0.35671	T	0.21	.	6.2419	0.20795	0.2343:0.0:0.7657:0.0	.	337;373;514;462;514	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	L	514;514;462;514;373;337	ENSP00000311545:R514L;ENSP00000370811:R462L;ENSP00000250572:R514L;ENSP00000370814:R373L;ENSP00000405974:R337L	ENSP00000250572:R514L	R	+	2	0	EMR1	6870679	0.884000	0.30299	0.271000	0.24616	0.474000	0.32979	1.300000	0.33436	0.454000	0.26884	0.491000	0.48974	CGA	.	.	none		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			T	6919679	G	T	6919679	3	4	10	1	0	0	0	0	1	0	0	0	5104	1058	37	4	1591	4	EMR1	19	6919679	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	225132	6919679	52209304	352	2192										
C19orf45	374877	hgsc.bcm.edu	37	chr19	7573099	7573099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctgtctccacagtgcaagtAcagccacatggagccccctc	8	17	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:7573099A>G	ENST00000361664.2	+	9	1442	c.1301A>G	c.(1300-1302)tAc>tGc	p.Y434C	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	434			Y -> N (in dbSNP:rs475923). {ECO:0000269|PubMed:14702039}.							endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAGTGCAAGTACAGCCACATG	0.607																																					p.Y434C		Atlas-SNP	.											C19orf45,NS,carcinoma,+1,1	C19orf45	36	1	0			c.A1301G						scavenged	.						41	41	41					19																	7573099		2203	4299	6502	SO:0001583	missense	374877	exon9			GCAAGTACAGCCA	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1301A>G	19.37:g.7573099A>G	ENSP00000355241:p.Tyr434Cys	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_198534	Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427402	0.43122	.	.	ENSG00000198723	ENST00000361664	T	0.36878	1.23	4.05	4.05	0.47172	.	0.306075	0.27349	N	0.019762	T	0.53270	0.1786	M	0.61703	1.905	0.31768	N	0.632505	D	0.89917	1.0	D	0.91635	0.999	T	0.61023	-0.7146	10	0.59425	D	0.04	-30.0092	9.5768	0.39463	1.0:0.0:0.0:0.0	.	434	Q8NA69	CS045_HUMAN	C	434	ENSP00000355241:Y434C	ENSP00000355241:Y434C	Y	+	2	0	C19orf45	7479099	0.905000	0.30787	0.998000	0.56505	0.562000	0.35680	4.379000	0.59575	1.839000	0.53478	0.379000	0.24179	TAC	.	.	none		0.607	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		G	7573099	A	G	7573099	3	3	10	1	0	0	0	0	1	0	0	0	1928	391	14	2	1331	2	C19orf45	19	7573099	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	653420	7573099	51555884	353	2193										
MUC16	94025	hgsc.bcm.edu	37	chr19	9002597	9002597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccagtacagccgctctctgtCcagtccagggcttttggggt	12	13	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:9002597C>T	ENST00000397910.4	-	51	40422	c.40219G>A	c.(40219-40221)Gac>Aac	p.D13407N	MUC16_ENST00000380951.5_Missense_Mutation_p.D48N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13409	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTCTCTGTCCAGTCCAGGG	0.592																																					p.D13407N		Atlas-SNP	.											MUC16_ENST00000397910,NS,lymphoid_neoplasm,0,2	MUC16	4315	2	0			c.G40219A						scavenged	.																																			SO:0001583	missense	94025	exon51			CTCTGTCCAGTCC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40219G>A	19.37:g.9002597C>T	ENSP00000381008:p.Asp13407Asn	Somatic	194	9	0.0463918		WXS	Illumina HiSeq	Phase_I	197	12	0.0609137	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.51|11.51	1.659878|1.659878	0.29515|0.29515	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.839|-0.839	0.10759|0.10759	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	L|L	0.52759|0.52759	1.655|1.655	.|.	.|.	.|.	B;D|.	0.60575|.	0.007;0.988|.	B;D|.	0.75020|.	0.014;0.985|.	T|.	0.51236|.	-0.8731|.	8|.	0.54805|.	T|.	0.06|.	-11.8857|-11.8857	6.8102|6.8102	0.23801|0.23801	0.0:0.8029:0.0:0.1971|0.0:0.8029:0.0:0.1971	.|.	21052;13407|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13407;48|246	ENSP00000381008:D13407N;ENSP00000370338:D48N|.	ENSP00000370338:D48N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8863597|8863597	0.045000|0.045000	0.20229|0.20229	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.258000|1.258000	0.32944|0.32944	-0.029000|-0.029000	0.13827|0.13827	-3.921000|-3.921000	0.00016|0.00016	GAC|TGG	.	.	none		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002597	C	T	9002597	3	4	10	1	0	0	0	0	1	0	0	0	9973	855	30	2	3440	2	MUC16	19	9002597	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1429498	9002597	50126386	354	2194										
MUC16	94025	hgsc.bcm.edu	37	chr19	9067987	9067987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aactctactcgtaagagtggAcaaatctaattgtgaaaatc	7	7	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:9067987A>G	ENST00000397910.4	-	3	19662	c.19459T>C	c.(19459-19461)Tcc>Ccc	p.S6487P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6489	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGAGTGGACAAATCTAAT	0.483																																					p.S6487P		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,+2,3	MUC16	4315	3	0			c.T19459C						scavenged	.						163	163	163					19																	9067987		1983	4157	6140	SO:0001583	missense	94025	exon3			GAGTGGACAAATC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19459T>C	19.37:g.9067987A>G	ENSP00000381008:p.Ser6487Pro	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	165	4	0.0242424	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.306	-0.359046	0.05138	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	1.83	0.755	0.18415	.	.	.	.	.	T	0.15435	0.0372	N	0.22421	0.69	.	.	.	B	0.24483	0.104	B	0.23275	0.045	T	0.15636	-1.0430	8	0.87932	D	0	.	5.537	0.17018	0.2531:0.0:0.0:0.7469	.	6487	B5ME49	.	P	6487	ENSP00000381008:S6487P	ENSP00000381008:S6487P	S	-	1	0	MUC16	8928987	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.168000	0.16622	-0.214000	0.10078	-2.002000	0.00443	TCC	.	.	none		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9067987	A	G	9067987	3	3	10	1	0	0	0	0	1	0	0	0	9973	275	10	2	24392	2	MUC16	19	9067987	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	65390	9067987	50060996	355	2195										
MUC16	94025	hgsc.bcm.edu	37	chr19	9088930	9088930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctggccaagttgtgctttggGgtgcagcagagtcattaaac	13	8	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:9088930G>A	ENST00000397910.4	-	1	3088	c.2885C>T	c.(2884-2886)cCc>cTc	p.P962L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	962	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGCTTTGGGGTGCAGCAGA	0.473																																					p.P962L		Atlas-SNP	.											MUC16,larynx,carcinoma,+1,1	MUC16	4315	1	0			c.C2885T						scavenged	.						217	214	215					19																	9088930		2025	4177	6202	SO:0001583	missense	94025	exon1			CTTTGGGGTGCAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2885C>T	19.37:g.9088930G>A	ENSP00000381008:p.Pro962Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	181	2	0.0110497	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.502	-0.315057	0.05422	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.27	-2.54	0.06307	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	.	.	.	B	0.19817	0.039	B	0.11329	0.006	T	0.44128	-0.9348	8	0.87932	D	0	.	3.0087	0.06037	0.3893:0.2445:0.3662:0.0	.	962	B5ME49	.	L	962	ENSP00000381008:P962L	ENSP00000381008:P962L	P	-	2	0	MUC16	8949930	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.343000	0.07791	-1.250000	0.02497	0.205000	0.17691	CCC	.	.	none		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9088930	G	A	9088930	3	1	10	1	0	0	0	0	1	0	0	0	9973	1232	43	2	40974	2	MUC16	19	9088930	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	20943	9088930	50040053	356	2196										
ZNF846	162993	hgsc.bcm.edu	37	chr19	9873975	9873975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tacctagtataatgagattcTtgtagttctccaacatcaca	5	9	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:9873975T>C	ENST00000397902.2	-	3	538	c.125A>G	c.(124-126)aAg>aGg	p.K42R	ZNF846_ENST00000586293.1_Missense_Mutation_p.K42R|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	42	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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AATGAGATTCTTGTAGTTCTC	0.413																																					p.K42R		Atlas-SNP	.											ZNF846,NS,carcinoma,0,1	ZNF846	61	1	0			c.A125G						PASS	.						109	114	113					19																	9873975		2202	4300	6502	SO:0001583	missense	162993	exon3			AGATTCTTGTAGT	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.125A>G	19.37:g.9873975T>C	ENSP00000380999:p.Lys42Arg	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	0.313	-0.966567	0.02232	.	.	ENSG00000196605	ENST00000397902	T	0.01516	4.81	2.17	-1.17	0.09648	Krueppel-associated box (4);	.	.	.	.	T	0.01156	0.0038	N	0.13168	0.305	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.48547	-0.9026	8	.	.	.	.	5.7018	0.17887	0.0:0.5061:0.0:0.4938	.	42	Q147U1	ZN846_HUMAN	R	42	ENSP00000380999:K42R	.	K	-	2	0	ZNF846	9734975	0.001000	0.12720	0.313000	0.25210	0.740000	0.42216	0.078000	0.14761	-0.400000	0.07656	0.421000	0.28195	AAG	.	.	none		0.413	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9873975	T	C	9873975	3	2	10	1	0	0	0	0	1	0	0	0	18189	1609	56	3	1492	3	ZNF846	19	9873975	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	785045	9873975	49255008	357	2197										
RAVER1	112812	hgsc.bcm.edu	37	chr19	10428229	10428229	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccttctgggctgggctcgggCgagggcagcaggtgggcaaa	19	10	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:10428229C>T	ENST00000393708.3	-	0	0				CTD-2369P2.10_ENST00000452032.2_5'Flank|FDX1L_ENST00000541276.1_5'Flank|FDX1L_ENST00000494368.1_5'Flank|RAVER1_ENST00000293677.6_Silent_p.S724S|CTD-2369P2.12_ENST00000586529.1_Silent_p.S125S|FDX1L_ENST00000492239.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TGGGCTCGGGCGAGGGCAGCA	0.701																																					p.S724S		Atlas-SNP	.											.	RAVER1	67	.	0			c.G2172A						PASS	.						31	33	33					19																	10428229		2002	4163	6165	SO:0001631	upstream_gene_variant	125950	exon13			CTCGGGCGAGGGC	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428229C>T	Exception_encountered	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	67	4	0.0597015	NM_133452	Q8N8B8	Silent	SNP	ENST00000393708.3	37	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	6.949	0.544861	0.13312	.	.	ENSG00000161847	ENST00000331131	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	7	0.54805	T	0.06	-0.625	5.394	0.16259	0.0732:0.1836:0.2306:0.5125	.	581	Q8IY67	RAVR1_HUMAN	H	581	.	ENSP00000327543:R581H	R	-	2	0	RAVER1	10289229	0.000000	0.05858	0.057000	0.19452	0.729000	0.41735	-5.027000	0.00158	-2.789000	0.00357	-2.358000	0.00240	CGC	.	.	none		0.701	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			T	10428229	C	T	10428229	1	4	10	0	1	0	0	0	0	0	0	0	13094	755	27	1		1	RAVER1	19	10428229	5'Flank	SNP	C	TCGA-FF-8041-01A-11D-2210-10	554254	10428229	48700754	358	2198										
CALR	811	hgsc.bcm.edu	37	chr19	13050364	13050364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgagcagaacatcgactgtGggggcggctatgtgaagctg	16	7	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:13050364G>A	ENST00000316448.5	+	3	389	c.316G>A	c.(316-318)Ggg>Agg	p.G106R		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	106	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CATCGACTGTGGGGGCGGCTA	0.517																																					p.G106R		Atlas-SNP	.											CALR,colon,carcinoma,-2,1	CALR	31	1	0			c.G316A						scavenged	.						178	175	176					19																	13050364		2203	4300	6503	SO:0001583	missense	811	exon3			GACTGTGGGGGCG	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.316G>A	19.37:g.13050364G>A	ENSP00000320866:p.Gly106Arg	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	137	2	0.0145985	NM_004343	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336975	0.95758	.	.	ENSG00000179218	ENST00000316448	T	0.67865	-0.29	5.56	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92506	0.6012	10	0.87932	D	0	-40.3969	13.4526	0.61180	0.0772:0.0:0.9227:0.0	.	106	P27797	CALR_HUMAN	R	106	ENSP00000320866:G106R	ENSP00000320866:G106R	G	+	1	0	CALR	12911364	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.808000	0.99193	1.341000	0.45600	0.561000	0.74099	GGG	.	.	none		0.517	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		A	13050364	G	A	13050364	3	1	10	1	0	0	0	0	1	0	0	0	2592	1348	47	2	326	2	CALR	19	13050364	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2622135	13050364	46078619	359	2199										
EMR2	30817	hgsc.bcm.edu	37	chr19	14865793	14865793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcgtagtgggccatgaggacGgcaaagctgctcaggtgggt	17	8	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:14865793G>A	ENST00000315576.3	-	14	2014	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	EMR2_ENST00000346057.1_Silent_p.A472A|EMR2_ENST00000353005.1_Silent_p.A379A|EMR2_ENST00000595839.1_Silent_p.A379A|EMR2_ENST00000596991.2_Silent_p.A510A|EMR2_ENST00000601345.1_Silent_p.A510A|EMR2_ENST00000392964.3_Missense_Mutation_p.R186C|EMR2_ENST00000353876.1_Silent_p.A428A|EMR2_ENST00000392967.2_Silent_p.A510A|EMR2_ENST00000594294.1_Silent_p.A472A|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000594076.1_Silent_p.A428A	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCATGAGGACGGCAAAGCTGC	0.567																																					p.A521A		Atlas-SNP	.											EMR2,NS,carcinoma,-1,1	EMR2	99	1	0			c.C1563T						scavenged	.						159	120	133					19																	14865793		2203	4300	6503	SO:0001819	synonymous_variant	30817	exon14			GAGGACGGCAAAG	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1563C>T	19.37:g.14865793G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_013447	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081254	0.07141	.	.	ENSG00000127507	ENST00000392964	T	0.40756	1.02	4.05	-3.2	0.05156	.	.	.	.	.	T	0.41719	0.1171	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49051	-0.8979	6	0.87932	D	0	.	4.1261	0.10128	0.4334:0.0:0.4102:0.1564	.	.	.	.	C	186	ENSP00000376691:R186C	ENSP00000376691:R186C	R	-	1	0	EMR2	14726793	0.000000	0.05858	0.782000	0.31804	0.009000	0.06853	-2.035000	0.01423	-0.579000	0.05952	-0.441000	0.05720	CGT	.	.	none		0.567	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14865793	G	A	14865793	2	1	10	1	0	0	0	0	0	0	0	1	5105	1103	39	1		1	EMR2	19	14865793	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1815429	14865793	44263190	360	2200										
CIB3	117286	hgsc.bcm.edu	37	chr19	16275678	16275678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccccgcgtcagtttggtcacCgtctgctccaggtcccacgc	10	18	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:16275678C>T	ENST00000269878.4	-	5	442	c.393G>A	c.(391-393)acG>acA	p.T131T	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.T82T	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	131	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GTTTGGTCACCGTCTGCTCCA	0.602																																					p.T131T		Atlas-SNP	.											CIB3,colon,carcinoma,-1,1	CIB3	35	1	0			c.G393A						scavenged	.						125	114	118					19																	16275678		2203	4300	6503	SO:0001819	synonymous_variant	117286	exon5			GGTCACCGTCTGC	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"EF-hand domain containing"	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.393G>A	19.37:g.16275678C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	199	2	0.0100503	NM_054113	E7EUX1|Q2M1W0|Q6ISP1	Silent	SNP	ENST00000269878.4	37	CCDS12340.1																																																																																			.	.	none		0.602	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		T	16275678	C	T	16275678	2	4	10	1	0	0	0	0	0	0	0	1	3422	639	23	1		1	CIB3	19	16275678	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1409885	16275678	42853305	361	2201										
MED26	9441	hgsc.bcm.edu	37	chr19	16687805	16687805	+	Missense_Mutation	SNP	C	C	A													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggcaaaggagccctcatgcCgtgagttccgaggactgaaa							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:16687805C>A	ENST00000263390.3	-	3	1098	c.836G>T	c.(835-837)cGg>cTg	p.R279L	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R287L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	279	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GCCCTCATGCCGTGAGTTCCG	0.667																																					p.R279L		Atlas-SNP	.											MED26,colon,carcinoma,0,1	MED26	25	1	0			c.G836T						PASS	.						30	32	32					19																	16687805		2203	4299	6502	SO:0001583	missense	9441	exon3			TCATGCCGTGAGT	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.836G>T	19.37:g.16687805C>A	ENSP00000263390:p.Arg279Leu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	102	17	0.166667	NM_004831	A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349489	0.41599	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.74	3.69	0.42338	.	0.198170	0.41294	D	0.000907	T	0.61652	0.2364	L	0.57536	1.79	0.30471	N	0.773314	D	0.76494	0.999	D	0.79784	0.993	T	0.61797	-0.6989	9	0.28530	T	0.3	-30.7651	13.3549	0.60623	0.1589:0.8411:0.0:0.0	.	279	O95402	MED26_HUMAN	L	279	.	ENSP00000263390:R279L	R	-	2	0	MED26	16548805	1.000000	0.71417	0.997000	0.53966	0.076000	0.17211	4.328000	0.59253	0.977000	0.38444	-0.324000	0.08512	CGG	.	.	none		0.667	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		A	16687805	C	A	16687805	3	1	10	1	0	0	0	0	1	0	0	0	9444	652	23	4	970	4	MED26	19	16687805	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	412127	16687805	42441178	362	2202	41	2								
MED26	9441	hgsc.bcm.edu	37	chr19	16687806	16687806	+	Missense_Mutation	SNP	G	G	A													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcaaaggagccctcatgccGtgagttccgaggactgaaag					rs201182566		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:16687806G>A	ENST00000263390.3	-	3	1097	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R287W	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	279	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCCTCATGCCGTGAGTTCCGA	0.662																																					p.R279W		Atlas-SNP	.											MED26,colon,carcinoma,+1,1	MED26	25	1	0			c.C835T						PASS	.						31	33	32					19																	16687806		2203	4300	6503	SO:0001583	missense	9441	exon3			CATGCCGTGAGTT	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.835C>T	19.37:g.16687806G>A	ENSP00000263390:p.Arg279Trp	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	103	18	0.174757	NM_004831	A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475948	0.44044	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.74	3.61	0.41365	.	0.198170	0.41294	D	0.000907	T	0.63331	0.2502	L	0.57536	1.79	0.29237	N	0.87285	D	0.89917	1.0	D	0.87578	0.998	T	0.60801	-0.7191	9	0.72032	D	0.01	-30.7651	13.7896	0.63131	0.0:0.0:0.803:0.197	.	279	O95402	MED26_HUMAN	W	279	.	ENSP00000263390:R279W	R	-	1	2	MED26	16548806	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	2.921000	0.48852	2.194000	0.70268	0.555000	0.69702	CGG	G|0.999;A|0.001	0.001	weak		0.662	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		A	16687806	G	A	16687806	3	1	10	1	0	0	0	0	1	0	0	0	9444	1144	40	1	971	1	MED26	19	16687806	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1	16687806	42441177	363	2203	41	2								
JAK3	3718	hgsc.bcm.edu	37	chr19	17948006	17948006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acacttggctcatcaagctcGctgcttccaggaatgactgg	10	12	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:17948006G>A	ENST00000527670.1	-	12	1747	c.1718C>T	c.(1717-1719)gCg>gTg	p.A573V	JAK3_ENST00000534444.1_Missense_Mutation_p.A573V|JAK3_ENST00000458235.1_Missense_Mutation_p.A573V|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	573	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.A573V(5)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CATCAAGCTCGCTGCTTCCAG	0.577		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.A573V		Atlas-SNP	.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	JAK3,NS,lymphoid_neoplasm,0,5	JAK3	341	5	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	c.C1718T						PASS	.						45	34	38					19																	17948006		2201	4291	6492	SO:0001583	missense	3718	exon13			AAGCTCGCTGCTT	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1718C>T	19.37:g.17948006G>A	ENSP00000432511:p.Ala573Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	68	0.511278	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669605	0.88348	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.60920	0.15;0.15;0.15	4.17	4.17	0.49024	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000010	T	0.68467	0.3004	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.916;0.94	T	0.72312	-0.4331	10	0.87932	D	0	-22.3785	14.3465	0.66668	0.0:0.0:1.0:0.0	.	573;573	P52333-2;P52333	.;JAK3_HUMAN	V	573	ENSP00000391676:A573V;ENSP00000432511:A573V;ENSP00000436421:A573V	ENSP00000413248:A573V	A	-	2	0	JAK3	17809006	1.000000	0.71417	0.854000	0.33618	0.985000	0.73830	8.985000	0.93487	2.316000	0.78162	0.484000	0.47621	GCG	.	.	none		0.577	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17948006	G	A	17948006	3	1	10	1	0	0	0	0	1	0	0	0	7939	1087	38	1	1704	1	JAK3	19	17948006	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1260200	17948006	41180977	364	2204										
ZNF101	94039	hgsc.bcm.edu	37	chr19	19790525	19790525	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atcccagtttatttcaaattCatgttagaactcacactgga	5	9	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:19790525C>T	ENST00000592502.1	+	4	837	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.H123Y			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	243					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(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ATTTCAAATTCATGTTAGAAC	0.358																																					p.H243Y		Atlas-SNP	.											.	ZNF101	43	.	0			c.C727T						PASS	.						31	32	32					19																	19790525		2203	4300	6503	SO:0001583	missense	94039	exon4			CAAATTCATGTTA	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.727C>T	19.37:g.19790525C>T	ENSP00000468049:p.His243Tyr	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	54	13	0.240741	NM_033204	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923897	0.73213	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	D;D	0.86769	-2.17;-2.17	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93569	0.7947	M	0.93763	3.455	0.30664	N	0.754114	D	0.89917	1.0	D	0.91635	0.999	D	0.87769	0.2604	8	.	.	.	.	6.2532	0.20859	0.0:0.9997:0.0:3.0E-4	.	243	Q8IZC7	ZN101_HUMAN	Y	243;243;123	ENSP00000319716:H243Y;ENSP00000400952:H123Y	.	H	+	1	0	ZNF101	19651525	0.996000	0.38824	0.884000	0.34674	0.883000	0.51084	5.267000	0.65530	0.308000	0.22923	0.313000	0.20887	CAT	.	.	none		0.358	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		T	19790525	C	T	19790525	3	4	10	1	0	0	0	0	1	0	0	0	17711	826	29	2	741	2	ZNF101	19	19790525	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1842519	19790525	39338458	365	2205										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33493842	33493842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	attttgacgagcacgctgagCatggcagggctcatgtcgta	13	9	1	2	rs137892450	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:33493842C>A	ENST00000254260.3	-	8	860	c.825G>T	c.(823-825)atG>atT	p.M275I	RHPN2_ENST00000400226.4_Missense_Mutation_p.M124I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	275	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCACGCTGAGCATGGCAGGGC	0.448																																					p.M275I		Atlas-SNP	.											RHPN2,NS,neuroblastoma,0,1	RHPN2	107	1	0			c.G825T						scavenged	.						54	49	50					19																	33493842		2203	4300	6503	SO:0001583	missense	85415	exon8			GCTGAGCATGGCA	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.825G>T	19.37:g.33493842C>A	ENSP00000254260:p.Met275Ile	Somatic	90	3	0.0333333		WXS	Illumina HiSeq	Phase_I	92	8	0.0869565	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524256	0.64747	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.16324	2.35;2.35	4.9	4.9	0.64082	BRO1 domain (3);	0.035852	0.85682	D	0.000000	T	0.23370	0.0565	M	0.72576	2.205	0.80722	D	1	P	0.41475	0.751	B	0.36959	0.237	T	0.07158	-1.0787	10	0.44086	T	0.13	-4.5596	18.4946	0.90860	0.0:1.0:0.0:0.0	.	275	Q8IUC4	RHPN2_HUMAN	I	275;5;124	ENSP00000254260:M275I;ENSP00000402244:M124I	ENSP00000254260:M275I	M	-	3	0	RHPN2	38185682	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.752000	0.85141	2.432000	0.82394	0.478000	0.44815	ATG	A|0.000;C|0.999;T|0.000	0.000	strong		0.448	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33493842	C	A	33493842	3	1	10	1	0	0	0	0	1	0	0	0	13351	710	25	4	1267	4	RHPN2	19	33493842	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	13703317	33493842	25635141	366	2206										
BLVRB	645	hgsc.bcm.edu	37	chr19	40964385	40964385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agaacatctcccactaccacGtgggccggccggggcccctc	11	18	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:40964385G>A	ENST00000263368.4	-	2	298	c.147C>T	c.(145-147)caC>caT	p.H49H	BLVRB_ENST00000595483.1_Silent_p.H49H	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	49					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	CCACTACCACGTGGGCCGGCC	0.637																																					p.H49H		Atlas-SNP	.											.	BLVRB	12	.	0			c.C147T						PASS	.																																			SO:0001819	synonymous_variant	645	exon2			TACCACGTGGGCC	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.147C>T	19.37:g.40964385G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	92	51	0.554348	NM_000713	A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	CCDS33029.1																																																																																			.	.	none		0.637	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			A	40964385	G	A	40964385	2	1	10	1	0	0	0	0	0	0	0	1	1452	1136	40	1		1	BLVRB	19	40964385	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	7470543	40964385	18164598	367	2207										
EML2	24139	hgsc.bcm.edu	37	chr19	46116911	46116911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgttgatatcagtgccgtccGccccctcagaccagatccct	8	17	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:46116911G>A	ENST00000245925.3	-	18	1762	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	EML2_ENST00000589876.1_Missense_Mutation_p.A571V|EML2_ENST00000536630.1_Missense_Mutation_p.A718V|EML2_ENST00000587152.1_Missense_Mutation_p.A772V	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	571	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.A571V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGCCGTCCGCCCCCTCAGA	0.572																																					p.A772V		Atlas-SNP	.											EML2,caecum,carcinoma,0,1	EML2	64	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2315T						PASS	.						113	94	100					19																	46116911		2203	4300	6503	SO:0001583	missense	24139	exon21			CCGTCCGCCCCCT	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1712C>T	19.37:g.46116911G>A	ENSP00000245925:p.Ala571Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	113	18	0.159292	NM_001193268	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299646	0.23650	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.29397	1.57;2.74	4.75	2.65	0.31530	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.66439	2.03	0.52501	D	0.999954	B;B;B	0.34255	0.206;0.445;0.03	B;B;B	0.24155	0.051;0.03;0.022	T	0.15694	-1.0428	10	0.54805	T	0.06	-19.9707	8.8426	0.35151	0.1883:0.0:0.8117:0.0	.	737;718;571	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	V	718;571;729	ENSP00000442365:A718V;ENSP00000245925:A571V	ENSP00000245925:A571V	A	-	2	0	EML2	50808751	0.860000	0.29831	0.756000	0.31282	0.028000	0.11728	4.029000	0.57253	1.385000	0.46445	0.563000	0.77884	GCG	.	.	none		0.572	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46116911	G	A	46116911	3	1	10	1	0	0	0	0	1	0	0	0	5097	1087	38	1	245	1	EML2	19	46116911	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5152526	46116911	13012072	368	2208										
SYMPK	8189	hgsc.bcm.edu	37	chr19	46352062	46352062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aggatagccttcttcaccacGttcacattctcgtccctcaa	5	15	5	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:46352062G>A	ENST00000245934.7	-	6	616	c.372C>T	c.(370-372)aaC>aaT	p.N124N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	124	Interaction with HSF1.				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)		TCTTCACCACGTTCACATTCT	0.552																																					p.N124N		Atlas-SNP	.											.	SYMPK	104	.	0			c.C372T						PASS	.						190	147	161					19																	46352062		2203	4300	6503	SO:0001819	synonymous_variant	8189	exon6			CACCACGTTCACA	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.372C>T	19.37:g.46352062G>A		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	260	135	0.519231	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																			.	.	none		0.552	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		A	46352062	G	A	46352062	2	1	10	1	0	0	0	0	0	0	0	1	15436	1136	40	1		1	SYMPK	19	46352062	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	235151	46352062	12776921	369	2209										
FOXA3	3171	hgsc.bcm.edu	37	chr19	46375713	46375713	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	taccagtggatcatggacctCttcccttactaccgggagaa	9	12	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:46375713C>T	ENST00000302177.2	+	2	647	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	150					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TCATGGACCTCTTCCCTTACT	0.552																																					p.L150L		Atlas-SNP	.											FOXA3,NS,carcinoma,+2,1	FOXA3	19	1	0			c.C450T						scavenged	.						114	109	111					19																	46375713		2203	4300	6503	SO:0001819	synonymous_variant	3171	exon2			GGACCTCTTCCCT	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.450C>T	19.37:g.46375713C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	141	3	0.0212766	NM_004497	A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	CCDS12677.1																																																																																			.	.	none		0.552	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			T	46375713	C	T	46375713	2	4	10	1	0	0	0	0	0	0	0	1	5991	900	32	2		2	FOXA3	19	46375713	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	23651	46375713	12753270	370	2210										
ARHGAP35	2909	hgsc.bcm.edu	37	chr19	47424847	47424847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agaggtgtttaactccccccGggcaggatcaccgctctgca	11	14	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:47424847G>A	ENST00000404338.3	+	1	2915	c.2915G>A	c.(2914-2916)cGg>cAg	p.R972Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	972					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AACTCCCCCCGGGCAGGATCA	0.488																																					p.R972Q		Atlas-SNP	.											GRLF1_ENST00000317082,NS,carcinoma,+1,1	.	.	1	0			c.G2915A						scavenged	.						52	52	52					19																	47424847		1932	4132	6064	SO:0001583	missense	2909	exon1			CCCCCCGGGCAGG	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2915G>A	19.37:g.47424847G>A	ENSP00000385720:p.Arg972Gln	Somatic	81	1	0.0123457		WXS	Illumina HiSeq	Phase_I	132	3	0.0227273	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820378	0.90873	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.09073	3.02	5.86	5.86	0.93980	.	0.052258	0.85682	D	0.000000	T	0.22704	0.0548	L	0.52573	1.65	0.58432	D	0.999999	D	0.62365	0.991	P	0.59357	0.856	T	0.00015	-1.2397	10	0.72032	D	0.01	-28.679	18.9487	0.92632	0.0:0.0:1.0:0.0	.	972	Q9NRY4-2	.	Q	972	ENSP00000385720:R972Q	ENSP00000324820:R972Q	R	+	2	0	ARHGAP35	52116687	0.992000	0.36948	1.000000	0.80357	0.980000	0.70556	6.387000	0.73191	2.778000	0.95560	0.655000	0.94253	CGG	.	.	none		0.488	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47424847	G	A	47424847	3	1	10	1	0	0	0	0	1	0	0	0	6795	1116	39	1	2917	1	ARHGAP35	19	47424847	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1049134	47424847	11704136	371	2211										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48558246	48558246	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccacaaatccagctcagcctCttctacttggggaaagggga	10	12	3	0	rs370150895		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:48558246C>T	ENST00000599921.1	-	15	1675	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E440K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E450K|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.E440K			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	440	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCTCAGCCTCTTCTACTTGG	0.537																																					p.E450K		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.G1348A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	93	94	94		1348,1318,1318	-0.4	0	19		94	0,8600		0,0,4300	no	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	450/552,440/528,440/542	48558246	2,13004	2203	4300	6503	SO:0001583	missense	8605	exon15			CAGCCTCTTCTAC	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1318G>A	19.37:g.48558246C>T	ENSP00000469473:p.Glu440Lys	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	145	77	0.531034	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	2.940	-0.219120	0.06101	4.54E-4	0.0	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04317	3.65;3.65	3.19	-0.385	0.12470	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.170328	0.37809	U	0.001933	T	0.03783	0.0107	L	0.41236	1.265	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.35400	-0.9790	10	0.41790	T	0.15	-12.1445	5.3436	0.15996	0.0:0.5724:0.0:0.4276	.	450;440	B4DI40;Q9UP65	.;PA24C_HUMAN	K	440	ENSP00000346228:E440K;ENSP00000400036:E440K	ENSP00000346228:E440K	E	-	1	0	PLA2G4C	53250058	0.011000	0.17503	0.002000	0.10522	0.020000	0.10135	0.887000	0.28254	0.033000	0.15463	-0.474000	0.04947	GAG	.	.	weak		0.537	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48558246	C	T	48558246	3	4	10	1	0	0	0	0	1	0	0	0	12003	922	32	2	323	2	PLA2G4C	19	48558246	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1133399	48558246	10570737	372	2212										
TSKS	60385	hgsc.bcm.edu	37	chr19	50251699	50251699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctggtgatggagtctttggCgcggaccaatccactgttga	14	9	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:50251699C>T	ENST00000246801.3	-	3	509	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	143					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.A143S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GAGTCTTTGGCGCGGACCAAT	0.562																																					p.A143T		Atlas-SNP	.											TSKS,NS,carcinoma,0,1	TSKS	97	1	1	Substitution - Missense(1)	liver(1)	c.G427A						scavenged	.						117	96	103					19																	50251699		2203	4300	6503	SO:0001583	missense	60385	exon3			CTTTGGCGCGGAC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.427G>A	19.37:g.50251699C>T	ENSP00000246801:p.Ala143Thr	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	256	4	0.015625	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629111	0.87560	.	.	ENSG00000126467	ENST00000246801	T	0.45276	0.9	4.85	4.85	0.62838	.	0.000000	0.53938	D	0.000057	T	0.51568	0.1682	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.48937	-0.8990	10	0.42905	T	0.14	-22.8746	14.9962	0.71433	0.0:1.0:0.0:0.0	.	143	Q9UJT2	TSKS_HUMAN	T	143	ENSP00000246801:A143T	ENSP00000246801:A143T	A	-	1	0	TSKS	54943511	0.992000	0.36948	0.959000	0.39883	0.990000	0.78478	3.860000	0.55995	2.525000	0.85131	0.462000	0.41574	GCC	.	.	none		0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50251699	C	T	50251699	3	4	10	1	0	0	0	0	1	0	0	0	16623	768	27	1	1387	1	TSKS	19	50251699	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1693453	50251699	8877284	373	2213										
CEACAM18	729767	hgsc.bcm.edu	37	chr19	51983701	51983701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggataaggtccctgaggatgTtcaggaatacagctggtact	13	7	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:51983701T>C	ENST00000396477.4	+	2	188	c.167T>C	c.(166-168)gTt>gCt	p.V56A	CEACAM18_ENST00000451626.1_Missense_Mutation_p.V117A	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	56										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTGAGGATGTTCAGGAATAC	0.562																																					p.V117A		Atlas-SNP	.											CEACAM18_ENST00000451626,NS,carcinoma,0,2	CEACAM18	96	2	0			c.T350C						scavenged	.						59	58	58					19																	51983701		2022	4180	6202	SO:0001583	missense	729767	exon3			AGGATGTTCAGGA			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.167T>C	19.37:g.51983701T>C	ENSP00000379738:p.Val56Ala	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	120	2	0.0166667	NM_001080405	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		.	.	.	.	.	.	.	.	.	.	.	7.510	0.654499	0.14580	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.65916	-0.18	2.79	-3.87	0.04218	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49287	0.1548	L	0.34521	1.04	0.09310	N	1	B	0.23442	0.085	B	0.33960	0.173	T	0.47407	-0.9120	9	0.32370	T	0.25	-2.777	9.3296	0.38014	0.0:0.6389:0.0:0.3611	.	117	A8MTB9	CEA18_HUMAN	A	117;56;56	ENSP00000402203:V117A	ENSP00000379738:V56A	V	+	2	0	CEACAM18	56675513	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.582000	0.05814	-1.005000	0.03417	-0.296000	0.09543	GTT	.	.	none		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			C	51983701	T	C	51983701	3	2	10	1	0	0	0	0	1	0	0	0	3189	1725	60	2	360	2	CEACAM18	19	51983701	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1732002	51983701	7145282	374	2214										
ZNF175	7728	hgsc.bcm.edu	37	chr19	52084729	52084729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcccagagatgcctgtaccGggatgtgatgctggagctct	14	10	1	2	rs200667551		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:52084729G>A	ENST00000262259.2	+	3	516	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	ZNF175_ENST00000436511.2_Missense_Mutation_p.R53Q|ZNF175_ENST00000596504.1_Missense_Mutation_p.R53Q	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGCCTGTACCGGGATGTGATG	0.552																																					p.R53Q		Atlas-SNP	.											ZNF175,colon,carcinoma,+1,1	ZNF175	65	1	0			c.G158A						scavenged	.						119	104	109					19																	52084729		2203	4300	6503	SO:0001583	missense	7728	exon3			TGTACCGGGATGT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.158G>A	19.37:g.52084729G>A	ENSP00000262259:p.Arg53Gln	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	232	3	0.012931	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.001	0.554892	0.13436	.	.	ENSG00000105497	ENST00000262259;ENST00000436511	T;T	0.02579	4.24;4.24	2.47	-0.884	0.10597	Krueppel-associated box (4);	.	.	.	.	T	0.02494	0.0076	L	0.33339	1.005	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.43294	-0.9400	9	0.37606	T	0.19	.	6.7679	0.23576	0.6284:0.0:0.3716:0.0	.	53	Q9Y473	ZN175_HUMAN	Q	53	ENSP00000262259:R53Q;ENSP00000440578:R53Q	ENSP00000262259:R53Q	R	+	2	0	ZNF175	56776541	0.000000	0.05858	0.853000	0.33588	0.359000	0.29487	-1.222000	0.02965	-0.334000	0.08463	-0.294000	0.09567	CGG	A|0.000;G|1.000	0.000	strong		0.552	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		A	52084729	G	A	52084729	3	1	10	1	0	0	0	0	1	0	0	0	17742	1116	39	1	164	1	ZNF175	19	52084729	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	101028	52084729	7044254	375	2215										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52887146	52887146	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgccggaaacaagtctcttAaaaatcaacttggattaacc	6	9	2	0	rs398101268|rs34470614		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:52887146A>T	ENST00000422689.2	+	4	328	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	105					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAAGTCTCTTAAAAATCAACT	0.368																																					p.K105X		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,1	ZNF880	45	1	0			c.A313T						scavenged	.						61	45	50					19																	52887146		690	1569	2259	SO:0001587	stop_gained	400713	exon4			TCTCTTAAAAATC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.313A>T	19.37:g.52887146A>T	ENSP00000406318:p.Lys105*	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_001145434	B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	8.517	0.867766	0.17250	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.6	-2.54	0.06307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7816	0.03033	0.4842:0.0:0.2398:0.276	.	.	.	.	X	105	.	ENSP00000406318:K105X	K	+	1	0	ZNF880	57578958	0.000000	0.05858	0.006000	0.13384	0.124000	0.20399	-1.231000	0.02939	-0.761000	0.04670	0.368000	0.22195	AAA	.	.	none		0.368	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		T	52887146	A	T	52887146	4	4	10	1	0	0	0	0	0	1	0	0	18194	363	13	5	327	5	ZNF880	19	52887146	Nonsense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	802417	52887146	6241837	376	2216										
ZNF611	81856	hgsc.bcm.edu	37	chr19	53209453	53209453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cactctttacacttgtaaggTttctcaacagtgtgacatct	6	10	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:53209453T>C	ENST00000319783.1	-	7	1171	c.855A>G	c.(853-855)aaA>aaG	p.K285K	ZNF611_ENST00000602162.1_Silent_p.K216K|ZNF611_ENST00000595798.1_Silent_p.K216K|ZNF611_ENST00000540744.1_Silent_p.K285K|ZNF611_ENST00000453741.2_Silent_p.K216K|ZNF611_ENST00000543227.1_Silent_p.K285K|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACTTGTAAGGTTTCTCAACAG	0.408																																					p.K285K		Atlas-SNP	.											ZNF611,NS,carcinoma,-1,1	ZNF611	72	1	0			c.A855G						scavenged	.						180	171	174					19																	53209453		2203	4300	6503	SO:0001819	synonymous_variant	81856	exon7			GTAAGGTTTCTCA	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.855A>G	19.37:g.53209453T>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	118	3	0.0254237	NM_030972	B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	CCDS12855.1																																																																																			.	.	none		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		C	53209453	T	C	53209453	2	2	10	1	0	0	0	0	0	0	0	1	18034	1722	60	2		2	ZNF611	19	53209453	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	322307	53209453	5919530	377	2217										
ZNF816A	125893	hgsc.bcm.edu	37	chr19	53456125	53456125	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gccacatccctgaaagtcaaGcgtccctaaaataaaaaaca	5	12	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:53456125G>C	ENST00000357666.4	-	4	369	c.69C>G	c.(67-69)cgC>cgG	p.R23R	ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000444460.2_Silent_p.R23R|ZNF816_ENST00000434371.2_Silent_p.R23R|ZNF321P_ENST00000391777.3_Silent_p.R23R|ZNF816_ENST00000270457.4_Silent_p.R23R|ZNF816_ENST00000438970.2_Silent_p.R23R|ZNF816_ENST00000535506.1_Silent_p.R23R	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGAAAGTCAAGCGTCCCTAAA	0.408																																					p.R23R		Atlas-SNP	.											.	ZNF816	73	.	0			c.C69G						PASS	.						85	93	90					19																	53456125		2203	4300	6503	SO:0001819	synonymous_variant	125893	exon3			AGTCAAGCGTCCC	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.69C>G	19.37:g.53456125G>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	49	14	0.285714	NM_001202457	A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612855	0.03690	.	.	ENSG00000180257	ENST00000332302	T	0.42513	0.97	1.84	0.498	0.16908	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39482	-0.9612	6	0.72032	D	0.01	.	8.3219	0.32134	0.0:0.3546:0.6454:0.0	.	.	.	.	V	59	ENSP00000333199:L59V	ENSP00000333199:L59V	L	-	1	0	ZNF816	58147937	0.000000	0.05858	0.011000	0.14972	0.541000	0.35023	-0.031000	0.12287	0.003000	0.14656	0.305000	0.20034	CTT	.	.	none		0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		C	53456125	G	C	53456125	2	2	10	1	0	0	0	0	0	0	0	1	18174	958	34	4		4	ZNF816A	19	53456125	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	246672	53456125	5672858	378	2218										
BIRC8	112401	hgsc.bcm.edu	37	chr19	53793269	53793269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccttgaaatcaaatcccattCgtatagcttcttgtagcata	5	10	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:53793269C>T	ENST00000426466.1	-	1	1606	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	120					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R120Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAATCCCATTCGTATAGCTTC	0.383																																					p.R120Q		Atlas-SNP	.											BIRC8,colon,carcinoma,0,9	BIRC8	54	9	1	Substitution - Missense(1)	NS(1)	c.G359A						scavenged	.						189	185	187					19																	53793269		2203	4300	6503	SO:0001583	missense	112401	exon1			CCCATTCGTATAG	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.359G>A	19.37:g.53793269C>T	ENSP00000412957:p.Arg120Gln	Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	276	3	0.0108696	NM_033341	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042575	0.01997	.	.	ENSG00000163098	ENST00000426466	T	0.33654	1.4	0.502	-1.0	0.10196	.	.	.	.	.	T	0.15955	0.0384	L	0.34521	1.04	0.09310	N	1	B	0.30511	0.282	B	0.14578	0.011	T	0.32025	-0.9922	9	0.06625	T	0.88	-16.4135	1.9268	0.03319	0.2682:0.25:0.0:0.4818	.	120	Q96P09	BIRC8_HUMAN	Q	120	ENSP00000412957:R120Q	ENSP00000412957:R120Q	R	-	2	0	BIRC8	58485081	0.639000	0.27234	0.000000	0.03702	0.001000	0.01503	0.452000	0.21795	-1.280000	0.02402	-0.851000	0.03033	CGA	.	.	none		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		T	53793269	C	T	53793269	3	4	10	1	0	0	0	0	1	0	0	0	1440	884	31	1	355	1	BIRC8	19	53793269	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	337144	53793269	5335714	379	2219										
ZNF845	91664	hgsc.bcm.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																					p.S452S		Atlas-SNP	.											ZNF845,NS,carcinoma,0,1	ZNF845	101	1	2	Substitution - coding silent(2)	prostate(1)|kidney(1)	c.G1356A						scavenged	.						26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664	exon4			CAAATCGAACCTT	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	77	4	0.0519481	NM_138374		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																			.	.	none		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		A	53855284	G	A	53855284	2	1	10	1	0	0	0	0	0	0	0	1	18188	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	62015	53855284	5273699	380	2220										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55148031	55148031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agagaaatggcctctcctccTtccccactgtctggggaatt	9	13	2	1	rs41308746	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:55148031T>C	ENST00000396331.1	+	15	2091	c.1734T>C	c.(1732-1734)ccT>ccC	p.P578P	AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396332.4_Silent_p.P579P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.P578P|LILRB1_ENST00000427581.2_Silent_p.P629P|LILRB1_ENST00000324602.7_Silent_p.P580P|LILRB1_ENST00000396315.1_Silent_p.P580P|LILRB1_ENST00000434867.2_Silent_p.P578P|LILRB1_ENST00000396327.3_Silent_p.P579P|LILRB1_ENST00000396317.1_Silent_p.P562P|LILRB1_ENST00000418536.2_Silent_p.P562P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCCTCCTTCCCCACTGT	0.582										HNSCC(37;0.09)			t|||	554	0.110623	0.1785	0.0893	5008	,	,		16680	0.0139		0.1491	False		,,,				2504	0.0941				p.P580P		Atlas-SNP	.											LILRB1,NS,carcinoma,+2,1	LILRB1	140	1	0			c.T1740C						scavenged	.						111	95	100					19																	55148031		2200	4295	6495	SO:0001819	synonymous_variant	10859	exon14			TCCTCCTTCCCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1734T>C	19.37:g.55148031T>C		Somatic	345	5	0.0144928		WXS	Illumina HiSeq	Phase_I	460	14	0.0304348	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																			.	.	weak		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55148031	T	C	55148031	2	2	10	1	0	0	0	0	0	0	0	1	8790	1596	56	3		3	LILRB1	19	55148031	Silent	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1292747	55148031	3980952	381	2221										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55494691	55494691	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acagaagctgctttccggagTagaaagactcaggaaccccg	11	11	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:55494691T>A	ENST00000543010.1	+	6	1768	c.1625T>A	c.(1624-1626)gTa>gAa	p.V542E	NLRP2_ENST00000263437.6_Missense_Mutation_p.V539E|NLRP2_ENST00000391721.4_Missense_Mutation_p.V518E|NLRP2_ENST00000537859.1_Missense_Mutation_p.V520E|NLRP2_ENST00000538819.1_Missense_Mutation_p.V518E|NLRP2_ENST00000339757.7_Missense_Mutation_p.V520E|NLRP2_ENST00000448584.2_Missense_Mutation_p.V542E|NLRP2_ENST00000427260.2_Missense_Mutation_p.V519E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	542					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTCCGGAGTAGAAAGACTC	0.557																																					p.V542E		Atlas-SNP	.											NLRP2_ENST00000543010,colon,carcinoma,0,1	NLRP2	161	1	0			c.T1625A						scavenged	.						88	82	84					19																	55494691		2203	4300	6503	SO:0001583	missense	55655	exon6			CCGGAGTAGAAAG	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1625T>A	19.37:g.55494691T>A	ENSP00000445135:p.Val542Glu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	153	5	0.0326797	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.421230	0.00188	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.81;-0.73;-0.73;-0.81;-0.73;-0.82;-0.73;-0.81	1.7	-0.443	0.12249	.	0.241233	0.21362	N	0.075796	T	0.30759	0.0775	N	0.00661	-1.28	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.35301	-0.9794	10	0.07482	T	0.82	.	2.6624	0.05030	0.4647:0.2699:0.0:0.2654	.	519;520;539;518;542	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	E	542;518;520;542;520;519;518;539	ENSP00000445135:V542E;ENSP00000375601:V518E;ENSP00000344074:V520E;ENSP00000409370:V542E;ENSP00000440601:V520E;ENSP00000402474:V519E;ENSP00000441133:V518E;ENSP00000263437:V539E	ENSP00000263437:V539E	V	+	2	0	NLRP2	60186503	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.407000	0.07178	-0.214000	0.10078	-1.701000	0.00721	GTA	.	.	none		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55494691	T	A	55494691	3	1	10	1	0	0	0	0	1	0	0	0	10477	1638	57	5	1643	5	NLRP2	19	55494691	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	346660	55494691	3634292	382	2222										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55494703	55494703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttccggagtagaaagactcaGgaaccccgacctgatccaag	10	12	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:55494703G>A	ENST00000543010.1	+	6	1780	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K	NLRP2_ENST00000263437.6_Missense_Mutation_p.R543K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R522K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R524K|NLRP2_ENST00000538819.1_Missense_Mutation_p.R522K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R524K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R546K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R523K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	546					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAAGACTCAGGAACCCCGAC	0.567																																					p.R546K		Atlas-SNP	.											NLRP2_ENST00000543010,colon,carcinoma,0,1	NLRP2	161	1	0			c.G1637A						scavenged	.						87	81	83					19																	55494703		2203	4300	6503	SO:0001583	missense	55655	exon6			GACTCAGGAACCC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1637G>A	19.37:g.55494703G>A	ENSP00000445135:p.Arg546Lys	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	155	3	0.0193548	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.908855	0.00508	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.58;-0.58;-0.65;-0.58;-0.65;-0.58;-0.64	1.7	-1.81	0.07882	.	2.154850	0.02966	N	0.143790	T	0.36193	0.0958	N	0.01140	-0.99	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.0;0.001;0.0	T	0.48305	-0.9047	10	0.02654	T	1	.	5.9847	0.19428	0.4353:0.0:0.5647:0.0	.	523;524;543;522;546	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	K	546;522;524;546;524;523;522;543	ENSP00000445135:R546K;ENSP00000375601:R522K;ENSP00000344074:R524K;ENSP00000409370:R546K;ENSP00000440601:R524K;ENSP00000402474:R523K;ENSP00000441133:R522K;ENSP00000263437:R543K	ENSP00000263437:R543K	R	+	2	0	NLRP2	60186515	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.026000	0.13599	-0.643000	0.05473	-1.166000	0.01754	AGG	.	.	none		0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55494703	G	A	55494703	3	1	10	1	0	0	0	0	1	0	0	0	10477	1000	35	2	1655	2	NLRP2	19	55494703	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12	55494703	3634280	383	2223										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56572873	56572873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cattcttttgatgaagatgaCcggtactggtggaaaaactg	11	6	1	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:56572873C>T	ENST00000390649.3	+	15	3582	c.3582C>T	c.(3580-3582)gaC>gaT	p.D1194D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1194					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGAAGATGACCGGTACTGGT	0.493																																					p.D1194D		Atlas-SNP	.											NLRP5_ENST00000390649,NS,carcinoma,+1,1	NLRP5	217	1	0			c.C3582T						scavenged	.						151	143	146					19																	56572873		1934	4142	6076	SO:0001819	synonymous_variant	126206	exon15			AGATGACCGGTAC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3582C>T	19.37:g.56572873C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	163	3	0.0184049	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			.	.	none		0.493	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56572873	C	T	56572873	2	4	10	1	0	0	0	0	0	0	0	1	10480	506	18	2		2	NLRP5	19	56572873	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1078170	56572873	2556110	384	2224										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385714	58385714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccacattcataatgttttttTtcagtgtgaactctctgatg	6	8	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr19:58385714T>G	ENST00000435989.2	-	3	1278	c.1044A>C	c.(1042-1044)gaA>gaC	p.E348D	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	348					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTTTCAGTGTGAA	0.368																																					p.E348D		Atlas-SNP	.											ZNF814,NS,carcinoma,0,2	ZNF814	93	2	0			c.A1044C						scavenged	.						192	147	160					19																	58385714		692	1591	2283	SO:0001583	missense	730051	exon3			TTTTTTTTCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1044A>C	19.37:g.58385714T>G	ENSP00000410545:p.Glu348Asp	Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	335	6	0.0179104	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	13.49	2.252737	0.39797	.	.	ENSG00000204514	ENST00000435989	T	0.18502	2.21	2.01	0.932	0.19466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.13371	0.34	0.19775	N	0.999954	B	0.15473	0.013	B	0.13407	0.009	T	0.30650	-0.9971	9	0.66056	D	0.02	.	5.8021	0.18420	0.0:0.152:0.0:0.848	.	348	B7Z6K7	ZN814_HUMAN	D	348	ENSP00000410545:E348D	ENSP00000410545:E348D	E	-	3	2	ZNF814	63077526	0.000000	0.05858	0.013000	0.15412	0.381000	0.30169	-0.928000	0.03980	0.089000	0.17243	0.113000	0.15668	GAA	.	.	none		0.368	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385714	T	G	58385714	3	3	10	1	0	0	0	0	1	0	0	0	18173	1838	64	5	1527	5	ZNF814	19	58385714	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	1812841	58385714	743269	385	2225										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895963	1895963	+	Missense_Mutation	SNP	A	A	G													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tttcagacctcacaaagagaAacaacatggacttttccatc					rs373583167|rs386811662|rs17855613	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:1895963A>G	ENST00000358771.4	+	2	450	c.298A>G	c.(298-300)Aac>Gac	p.N100D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CACAAAGAGAAACAACATGGA	0.522																																					p.N100D	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,-2,4	SIRPA	83	4	0			c.A298G						scavenged	.																																			SO:0001583	missense	140885	exon3			AAGAGAAACAACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.298A>G	20.37:g.1895963A>G	ENSP00000351621:p.Asn100Asp	Somatic	363	20	0.0550964		WXS	Illumina HiSeq	Phase_I	389	38	0.0976864	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430951	0.25726	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02236	4.38;4.38;4.38	5.11	-5.69	0.02428	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.03651	0.0104	L	0.55481	1.735	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.0	B;B;B	0.24701	0.004;0.055;0.007	T	0.41875	-0.9484	10	0.51188	T	0.08	.	10.2665	0.43457	0.2384:0.1377:0.6239:0.0	rs17855613	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	100	ENSP00000382941:N100D;ENSP00000348307:N100D;ENSP00000351621:N100D	ENSP00000348307:N100D	N	+	1	0	SIRPA	1843963	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.479000	0.02327	-1.294000	0.02360	-0.388000	0.06559	AAC	.	.	weak		0.522	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895963	A	G	1895963	3	3	10	1	0	0	0	0	1	0	0	0	14332	14	1	2	304	2	SIRPA	20	1895963	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10		1895963	61129557	386	2226	42	2								
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895965	1895965	+	Missense_Mutation	SNP	C	C	A													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcagacctcacaaagagaaaCaacatggacttttccatccg					rs17855614|rs373583167|rs386811662	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:1895965C>A	ENST00000358771.4	+	2	452	c.300C>A	c.(298-300)aaC>aaA	p.N100K	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100K|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAAAGAGAAACAACATGGACT	0.517													C|||	480	0.0958466	0.0386	0.1095	5008	,	,		14804	0.1835		0.0537	False		,,,				2504	0.1166				p.N100K	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,0,4	SIRPA	83	4	0			c.C300A						scavenged	.																																			SO:0001583	missense	140885	exon3			GAGAAACAACATG	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.300C>A	20.37:g.1895965C>A	ENSP00000351621:p.Asn100Lys	Somatic	360	19	0.0527778		WXS	Illumina HiSeq	Phase_I	387	37	0.0956072	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533326	0.27387	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02158	4.42;4.42;4.42	5.11	0.771	0.18504	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.04634	0.0126	M	0.65975	2.015	0.09310	N	1	B;B;B	0.33299	0.003;0.407;0.039	B;B;B	0.31812	0.056;0.136;0.082	T	0.44345	-0.9334	10	0.72032	D	0.01	.	8.1767	0.31285	0.0:0.4423:0.4696:0.0881	rs17855614	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	K	100	ENSP00000382941:N100K;ENSP00000348307:N100K;ENSP00000351621:N100K	ENSP00000348307:N100K	N	+	3	2	SIRPA	1843965	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.328000	0.07945	0.028000	0.15324	-0.315000	0.08773	AAC	.	.	weak		0.517	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1895965	C	A	1895965	3	1	10	1	0	0	0	0	1	0	0	0	14332	477	17	4	306	4	SIRPA	20	1895965	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2	1895965	61129555	387	2227	42	2								
STK35	140901	hgsc.bcm.edu	37	chr20	2083900	2083900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcaagcggcgccaccagaacGtcgtgcagtttgaggagtgc	14	11	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:2083900G>A	ENST00000381482.3	+	2	1052	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	STK35_ENST00000400064.3_Missense_Mutation_p.V89I|STK35_ENST00000246032.3_Missense_Mutation_p.V128I			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCACCAGAACGTCGTGCAGTT	0.637																																					p.V261I		Atlas-SNP	.											STK35,NS,carcinoma,-2,1	STK35	31	1	0			c.G781A						scavenged	.						30	27	28					20																	2083900		2203	4300	6503	SO:0001583	missense	140901	exon2			CAGAACGTCGTGC	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.781G>A	20.37:g.2083900G>A	ENSP00000370891:p.Val261Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	92	2	0.0217391	NM_080836	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710984	0.30322	.	.	ENSG00000125834	ENST00000381482;ENST00000246032;ENST00000400064	D;D;T	0.91295	-2.82;-2.82;1.46	4.25	2.3	0.28687	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.075453	0.51477	N	0.000085	T	0.75649	0.3878	N	0.10645	0.015	0.31947	N	0.610125	B;B	0.25719	0.132;0.056	B;B	0.24006	0.023;0.05	T	0.68191	-0.5474	10	0.10377	T	0.69	-10.5804	8.1089	0.30903	0.2064:0.0:0.7936:0.0	.	89;261	B4DYV9;Q8TDR2	.;STK35_HUMAN	I	261;128;89	ENSP00000370891:V261I;ENSP00000246032:V128I;ENSP00000382937:V89I	ENSP00000246032:V128I	V	+	1	0	STK35	2031900	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	0.719000	0.32188	-0.136000	0.14681	GTC	.	.	none		0.637	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		A	2083900	G	A	2083900	3	1	10	1	0	0	0	0	1	0	0	0	15300	1145	40	1	787	1	STK35	20	2083900	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	187935	2083900	60941620	388	2228										
VPS16	64601	hgsc.bcm.edu	37	chr20	2842741	2842741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aaattgcctcaatggcccccGgggcgctgctcctggaggct	13	14	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:2842741G>A	ENST00000380445.3	+	11	1108	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	VPS16_ENST00000380443.3_5'Flank|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380469.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	346					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AATGGCCCCCGGGGCGCTGCT	0.607																																					p.G346R		Atlas-SNP	.											VPS16,NS,carcinoma,0,1	VPS16	76	1	0			c.G1036A						scavenged	.						27	30	29					20																	2842741		2203	4300	6503	SO:0001583	missense	64601	exon11			GCCCCCGGGGCGC	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1036G>A	20.37:g.2842741G>A	ENSP00000369810:p.Gly346Arg	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	152	4	0.0263158	NM_022575	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392024	0.83011	.	.	ENSG00000215305	ENST00000380445	T	0.53206	0.63	4.93	3.97	0.46021	Vps16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70828	-0.4766	10	0.72032	D	0.01	-11.1107	10.4343	0.44426	0.0:0.0:0.8056:0.1944	.	346	Q9H269	VPS16_HUMAN	R	346	ENSP00000369810:G346R	ENSP00000369810:G346R	G	+	1	0	VPS16	2790741	1.000000	0.71417	0.983000	0.44433	0.922000	0.55478	8.160000	0.89653	1.291000	0.44653	0.561000	0.74099	GGG	.	.	none		0.607	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		A	2842741	G	A	2842741	3	1	10	1	0	0	0	0	1	0	0	0	17190	1116	39	1	1078	1	VPS16	20	2842741	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	758841	2842741	60182779	389	2229										
RASSF2	9770	hgsc.bcm.edu	37	chr20	4768377	4768377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcgggcaatcagcgggtaatCggtggccttcagcttctgtt	13	10	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:4768377C>T	ENST00000379400.3	-	10	910	c.715G>A	c.(715-717)Gat>Aat	p.D239N	RASSF2_ENST00000379376.2_Missense_Mutation_p.D239N|RASSF2_ENST00000478553.1_Intron	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	239	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGCGGGTAATCGGTGGCCTTC	0.537																																					p.D239N	Melanoma(158;1891 3343 50738)	Atlas-SNP	.											RASSF2,NS,carcinoma,0,1	RASSF2	75	1	0			c.G715A						scavenged	.						137	115	123					20																	4768377		2203	4300	6503	SO:0001583	missense	9770	exon10			GGTAATCGGTGGC	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.715G>A	20.37:g.4768377C>T	ENSP00000368710:p.Asp239Asn	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	142	2	0.0140845	NM_014737	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426218	0.96131	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.32753	1.44;1.44	5.41	5.41	0.78517	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63453	-0.6634	10	0.87932	D	0	.	17.9201	0.88963	0.0:1.0:0.0:0.0	.	239	P50749	RASF2_HUMAN	N	239	ENSP00000368710:D239N;ENSP00000368684:D239N	ENSP00000368684:D239N	D	-	1	0	RASSF2	4716377	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	7.247000	0.78257	2.815000	0.96918	0.561000	0.74099	GAT	.	.	none		0.537	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		T	4768377	C	T	4768377	3	4	10	1	0	0	0	0	1	0	0	0	13086	884	31	1	277	1	RASSF2	20	4768377	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1925636	4768377	58257143	390	2230										
PLCB4	5332	hgsc.bcm.edu	37	chr20	9374297	9374297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agaaaaatactcataaaaaaCaagcggctgaaacctgaagt	7	7	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:9374297C>T	ENST00000378493.1	+	15	1401	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	PLCB4_ENST00000378473.3_Silent_p.N462N|PLCB4_ENST00000334005.3_Silent_p.N462N|PLCB4_ENST00000378501.2_Silent_p.N462N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.N462N|PLCB4_ENST00000414679.2_Silent_p.N462N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCATAAAAAACAAGCGGCTGA	0.393											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N462N		Atlas-SNP	.											.	PLCB4	204	.	0			c.C1386T						PASS	.						60	62	61					20																	9374297		2203	4300	6503	SO:0001819	synonymous_variant	5332	exon16			AAAAAACAAGCGG		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1386C>T	20.37:g.9374297C>T		Somatic	32	0	0	656	WXS	Illumina HiSeq	Phase_I	58	10	0.172414	NM_182797	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																			.	.	none		0.393	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9374297	C	T	9374297	2	4	10	1	0	0	0	0	0	0	0	1	12030	477	17	2		2	PLCB4	20	9374297	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	4605920	9374297	53651223	391	2231										
BTBD3	22903	hgsc.bcm.edu	37	chr20	11903884	11903884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgctgtcaccgtttccagtCgtgtgcctatcgaagcaacc	10	14	1	0	rs535169870		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:11903884C>T	ENST00000405977.1	+	5	1764	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	BTBD3_ENST00000378226.2_Missense_Mutation_p.S380L|BTBD3_ENST00000399006.2_Missense_Mutation_p.S319L|BTBD3_ENST00000254977.3_Missense_Mutation_p.S319L	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	380					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGTTTCCAGTCGTGTGCCTAT	0.512																																					p.S380L		Atlas-SNP	.											BTBD3,NS,carcinoma,0,2	BTBD3	92	2	0			c.C1139T						scavenged	.						84	71	76					20																	11903884		2203	4300	6503	SO:0001583	missense	22903	exon4			TCCAGTCGTGTGC	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1139C>T	20.37:g.11903884C>T	ENSP00000384545:p.Ser380Leu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	169	2	0.0118343	NM_014962	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752141	0.89753	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79940	-1.28;-1.28;-1.32;-1.32	6.16	6.16	0.99307	PHR (1);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.89715	0.3915	10	0.40728	T	0.16	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	380	Q9Y2F9	BTBD3_HUMAN	L	319;319;380;380	ENSP00000254977:S319L;ENSP00000381971:S319L;ENSP00000384545:S380L;ENSP00000367471:S380L	ENSP00000254977:S319L	S	+	2	0	BTBD3	11851884	1.000000	0.71417	0.973000	0.42090	0.924000	0.55760	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	TCG	.	.	none		0.512	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			T	11903884	C	T	11903884	3	4	10	1	0	0	0	0	1	0	0	0	1544	893	31	1	1153	1	BTBD3	20	11903884	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2529587	11903884	51121636	392	2232										
KIF16B	55614	hgsc.bcm.edu	37	chr20	16360313	16360313	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtacctccccacgccgcagGagctggatcatctcctgctt	9	16	2	0	rs374151470		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:16360313G>A	ENST00000354981.2	-	19	2491	c.2334C>T	c.(2332-2334)ctC>ctT	p.L778L	KIF16B_ENST00000355755.3_Silent_p.L778L|KIF16B_ENST00000408042.1_Silent_p.L778L|KIF16B_ENST00000378003.2_Silent_p.L4L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	778	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACGCCGCAGGAGCTGGATCA	0.597																																					p.L778L		Atlas-SNP	.											.	KIF16B	305	.	0			c.C2334T						PASS	.						97	95	96					20																	16360313		2203	4300	6503	SO:0001819	synonymous_variant	55614	exon19			CCGCAGGAGCTGG	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2334C>T	20.37:g.16360313G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	202	73	0.361386	NM_001199865	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																			.	.	alt		0.597	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16360313	G	A	16360313	2	1	10	1	0	0	0	0	0	0	0	1	8278	1161	41	2		2	KIF16B	20	16360313	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4456429	16360313	46665207	393	2233										
ENTPD6	955	hgsc.bcm.edu	37	chr20	25199209	25199209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctcgggctcgggctgatgtCggcacgcctggcgatcctgg	16	14	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:25199209C>T	ENST00000376652.4	+	10	1065	c.902C>T	c.(901-903)tCg>tTg	p.S301L	ENTPD6_ENST00000433259.2_Missense_Mutation_p.S301L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S284L|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S300L			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	301					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGGCTGATGTCGGCACGCCTG	0.652																																					p.S301L		Atlas-SNP	.											ENTPD6,NS,carcinoma,0,1	ENTPD6	57	1	0			c.C902T						scavenged	.						44	35	38					20																	25199209		2202	4300	6502	SO:0001583	missense	955	exon10			TGATGTCGGCACG	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.902C>T	20.37:g.25199209C>T	ENSP00000365840:p.Ser301Leu	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	167	3	0.0179641	NM_001247	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.275057|4.275057	0.80580|0.80580	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000433259;ENST00000425813	.|T;T;T;T;T;T	.|0.12039	.|2.72;2.72;2.72;2.72;2.72;2.72	5.28|5.28	4.34|4.34	0.51931|0.51931	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37183|0.37183	0.0994|0.0994	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;P;P;D;P;P;D;D	.|0.89917	.|0.998;0.95;0.95;0.95;0.976;0.839;0.933;1.0;1.0	.|P;B;P;P;P;B;P;D;D	.|0.85130	.|0.889;0.362;0.459;0.564;0.642;0.289;0.642;0.997;0.997	T|T	0.18085|0.18085	-1.0348|-1.0348	5|10	.|0.56958	.|D	.|0.05	-13.1173|-13.1173	12.5621|12.5621	0.56288|0.56288	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	.|83;283;301;301;301;284;300;300;301	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN	W|L	222;194|284;300;221;197;301;283;301;253	.|ENSP00000347084:S284L;ENSP00000353131:S300L;ENSP00000365840:S301L;ENSP00000408098:S283L;ENSP00000401895:S301L;ENSP00000390646:S253L	.|ENSP00000347084:S284L	R|S	+|+	1|2	2|0	ENTPD6|ENTPD6	25147209|25147209	1.000000|1.000000	0.71417|0.71417	0.844000|0.844000	0.33320|0.33320	0.840000|0.840000	0.47671|0.47671	5.946000|5.946000	0.70234|0.70234	1.242000|1.242000	0.43836|0.43836	0.462000|0.462000	0.41574|0.41574	CGG|TCG	.	.	none		0.652	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			T	25199209	C	T	25199209	3	4	10	1	0	0	0	0	1	0	0	0	5143	893	31	1	943	1	ENTPD6	20	25199209	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	8838896	25199209	37826311	394	2234										
TRPC4AP	26133	hgsc.bcm.edu	37	chr20	33595429	33595429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggaggaaactctccacagccCgagcttgccaaaacctgcga	10	14	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:33595429C>T	ENST00000252015.2	-	14	1699	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R498Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R529Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R139Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	537					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.R537Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTCCACAGCCCGAGCTTGCCA	0.567																																					p.R537Q		Atlas-SNP	.											TRPC4AP,NS,carcinoma,0,1	TRPC4AP	64	1	1	Substitution - Missense(1)	endometrium(1)	c.G1610A						scavenged	.						102	97	99					20																	33595429		2203	4300	6503	SO:0001583	missense	26133	exon14			ACAGCCCGAGCTT	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1610G>A	20.37:g.33595429C>T	ENSP00000252015:p.Arg537Gln	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_015638	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460657	0.96240	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.35	4.41	0.53225	.	0.049552	0.85682	N	0.000000	T	0.49795	0.1578	M	0.66939	2.045	0.58432	D	0.999995	D;D;D	0.76494	0.997;0.999;0.999	P;P;P	0.61477	0.832;0.889;0.889	T	0.54794	-0.8240	10	0.72032	D	0.01	.	13.8973	0.63781	0.0:0.9275:0.0:0.0725	.	498;529;537	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	Q	537;529;139;498;522	ENSP00000252015:R537Q;ENSP00000400614:R529Q;ENSP00000446090:R139Q;ENSP00000400497:R498Q	ENSP00000252015:R537Q	R	-	2	0	TRPC4AP	33059090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	1.491000	0.48482	0.655000	0.94253	CGG	.	.	none		0.567	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33595429	C	T	33595429	3	4	10	1	0	0	0	0	1	0	0	0	16578	652	23	1	807	1	TRPC4AP	20	33595429	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	8396220	33595429	29430091	395	2235										
SLC32A1	140679	hgsc.bcm.edu	37	chr20	37353459	37353459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gagcggcatgttcgccaggaTgggttttcaggcggccacgg	17	10	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:37353459T>C	ENST00000217420.1	+	1	355	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	31					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCGCCAGGATGGGTTTTCAG	0.632																																					p.M31T		Atlas-SNP	.											SLC32A1,lower_third,carcinoma,0,1	SLC32A1	81	1	0			c.T92C						scavenged	.						48	32	38					20																	37353459		2203	4300	6503	SO:0001583	missense	140679	exon1			CCAGGATGGGTTT	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.92T>C	20.37:g.37353459T>C	ENSP00000217420:p.Met31Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	165	2	0.0121212	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244930	0.39697	.	.	ENSG00000101438	ENST00000217420	T	0.08282	3.11	4.85	3.73	0.42828	.	0.044040	0.85682	D	0.000000	T	0.05273	0.0140	N	0.19112	0.55	0.44188	D	0.997007	B	0.19817	0.039	B	0.15484	0.013	T	0.39683	-0.9602	10	0.15952	T	0.53	-34.28	9.8857	0.41260	0.0:0.0:0.1724:0.8276	.	31	Q9H598	VIAAT_HUMAN	T	31	ENSP00000217420:M31T	ENSP00000217420:M31T	M	+	2	0	SLC32A1	36786873	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.932000	0.70121	0.674000	0.31244	-0.466000	0.05196	ATG	.	.	none		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		C	37353459	T	C	37353459	3	2	10	1	0	0	0	0	1	0	0	0	14565	1464	51	2	94	2	SLC32A1	20	37353459	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	3758030	37353459	25672061	396	2236										
TTPAL	79183	hgsc.bcm.edu	37	chr20	43113093	43113093	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atggaattgtaattcttgcaGactacaaaggagtgagttta	10	4	1	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:43113093G>A	ENST00000372904.3	+	4	705	c.562G>A	c.(562-564)Gac>Aac	p.D188N	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.D188N	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	188	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.D188N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AATTCTTGCAGACTACAAAGG	0.413																																					p.D188N		Atlas-SNP	.											TTPAL,trunk,malignant_melanoma,0,1	TTPAL	31	1	1	Substitution - Missense(1)	skin(1)	c.G562A						scavenged	.						122	111	115					20																	43113093		2203	4300	6503	SO:0001583	missense	79183	exon3			CTTGCAGACTACA	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.562G>A	20.37:g.43113093G>A	ENSP00000361995:p.Asp188Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	144	2	0.0138889	NM_001039199	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	ENST00000372904.3	37	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	G	34	5.403595	0.96051	.	.	ENSG00000124120	ENST00000262605;ENST00000372904	D;D	0.95788	-3.81;-3.81	6.05	6.05	0.98169	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97512	1.0067	10	0.54805	T	0.06	-43.975	20.6013	0.99457	0.0:0.0:1.0:0.0	.	188	Q9BTX7	TTPAL_HUMAN	N	188	ENSP00000262605:D188N;ENSP00000361995:D188N	ENSP00000262605:D188N	D	+	1	0	TTPAL	42546507	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.845000	0.99498	2.878000	0.98634	0.650000	0.86243	GAC	.	.	none		0.413	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		A	43113093	G	A	43113093	3	1	10	1	0	0	0	0	1	0	0	0	16734	942	33	2	568	2	TTPAL	20	43113093	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	5759634	43113093	19912427	397	2237										
SERINC3	10955	hgsc.bcm.edu	37	chr20	43129937	43129937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttggctattagtggaagtgcGgatgctggaaagtgatccca	14	6	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:43129937G>A	ENST00000342374.4	-	9	1217	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	SERINC3_ENST00000541235.1_Missense_Mutation_p.R299C|SERINC3_ENST00000255175.1_Missense_Mutation_p.R354C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	354					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTGGAAGTGCGGATGCTGGAA	0.493																																					p.R354C		Atlas-SNP	.											.	SERINC3	42	.	0			c.C1060T						PASS	.						95	78	84					20																	43129937		2203	4300	6503	SO:0001583	missense	10955	exon9			AAGTGCGGATGCT	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1060C>T	20.37:g.43129937G>A	ENSP00000340243:p.Arg354Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_006811	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618830	0.87460	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.4	4.45	0.53987	.	0.143233	0.64402	N	0.000004	T	0.50871	0.1641	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.64330	-0.6433	10	0.72032	D	0.01	.	14.1243	0.65210	0.0719:0.0:0.9281:0.0	.	354;354	Q53GK8;Q13530	.;SERC3_HUMAN	C	93;354;354;321;299	ENSP00000414197:R93C;ENSP00000255175:R354C;ENSP00000340243:R354C;ENSP00000440966:R299C	ENSP00000255175:R354C	R	-	1	0	SERINC3	42563351	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	9.480000	0.97931	1.506000	0.48736	0.563000	0.77884	CGC	.	.	none		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		A	43129937	G	A	43129937	3	1	10	1	0	0	0	0	1	0	0	0	14081	1116	39	1	369	1	SERINC3	20	43129937	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	16844	43129937	19895583	398	2238										
RBPJL	11317	hgsc.bcm.edu	37	chr20	43944983	43944983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctctcatcagcaccctagagGtgaagccgggcgctaggggc	14	13	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:43944983G>A	ENST00000343694.3	+	10	1248		c.e10+1		RBPJL_ENST00000372743.1_Splice_Site|RBPJL_ENST00000372741.3_Splice_Site|RBPJL_ENST00000464504.1_Splice_Site	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CACCCTAGAGGTGAAGCCGGG	0.657																																					.		Atlas-SNP	.											RBPJL,right_lower_lobe,carcinoma,0,1	RBPJL	67	1	0			c.1176+1G>A						scavenged	.						33	32	32					20																	43944983		2203	4300	6503	SO:0001630	splice_region_variant	11317	exon10			CTAGAGGTGAAGC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1176+1G>A	20.37:g.43944983G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Splice_Site	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776980	0.70107	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5364	0.84373	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBPJL	43378397	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.187000	0.94912	2.364000	0.80123	0.555000	0.69702	.	.	.	none		0.657	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	Intron	A	43944983	G	A	43944983	5	1	10	1	0	0	0	0	0	0	1	0	13162	1275	44	2	1215	2	RBPJL	20	43944983	Splice_Site	SNP	G	TCGA-FF-8041-01A-11D-2210-10	815046	43944983	19080537	399	2239										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46265035	46265035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctgatgaccggggtcattcCtccttgaccaactcccccct	7	17	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:46265035C>T	ENST00000371998.3	+	12	2096	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	NCOA3_ENST00000372004.3_Silent_p.S635S|NCOA3_ENST00000371997.3_Silent_p.S645S|NCOA3_ENST00000341724.6_Silent_p.S645S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	635	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGGTCATTCCTCCTTGACCA	0.473																																					p.S645S		Atlas-SNP	.											.	NCOA3	156	.	0			c.C1935T						PASS	.						79	71	74					20																	46265035		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon12			TCATTCCTCCTTG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1905C>T	20.37:g.46265035C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	123	22	0.178862	NM_001174088	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.	.	none		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46265035	C	T	46265035	2	4	10	1	0	0	0	0	0	0	0	1	10230	668	24	2		2	NCOA3	20	46265035	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	2320052	46265035	16760485	400	2240										
SALL4	57167	hgsc.bcm.edu	37	chr20	50407072	50407072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggcgtgttgggaatctgaccGcccatgtgcatccgaatatg	13	10	1	1	rs149008635	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:50407072G>A	ENST00000217086.4	-	2	2061	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	650					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552																																					p.G650G		Atlas-SNP	.											SALL4,bladder,carcinoma,-1,1	SALL4	168	1	0			c.C1950T						scavenged	.	G		4,4402	8.1+/-20.4	0,4,2199	64	55	58		1950	-3	1	20	dbSNP_134	58	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	SALL4	NM_020436.3		0,21,6482	AA,AG,GG		0.1977,0.0908,0.1615		650/1054	50407072	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			CTGACCGCCCATG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1950C>T	20.37:g.50407072G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	147	2	0.0136054	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			G|0.999;A|0.001	0.001	strong		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50407072	G	A	50407072	2	1	10	1	0	0	0	0	0	0	0	1	13813	1074	38	1		1	SALL4	20	50407072	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4142037	50407072	12618448	401	2241										
CDH4	1002	hgsc.bcm.edu	37	chr20	60427856	60427856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggcaacaaggtggagaaccCcatcgacctgtacatctacg	10	12	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:60427856C>T	ENST00000360469.5	+	6	867	c.779C>T	c.(778-780)cCc>cTc	p.P260L	CDH4_ENST00000543233.1_Missense_Mutation_p.P186L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	260	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGGAGAACCCCATCGACCTG	0.592																																					p.P260L		Atlas-SNP	.											.	CDH4	172	.	0			c.C779T						PASS	.						163	123	136					20																	60427856		2203	4300	6503	SO:0001583	missense	1002	exon6			AGAACCCCATCGA	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.779C>T	20.37:g.60427856C>T	ENSP00000353656:p.Pro260Leu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	45	0.338346	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927112	0.92389	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51817	0.69;0.69	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.72802	-0.4183	9	.	.	.	.	17.758	0.88455	0.0:1.0:0.0:0.0	.	260	P55283	CADH4_HUMAN	L	260;168;186	ENSP00000353656:P260L;ENSP00000443301:P186L	.	P	+	2	0	CDH4	59861251	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.549000	0.82163	2.202000	0.70862	0.561000	0.74099	CCC	.	.	none		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60427856	C	T	60427856	3	4	10	1	0	0	0	0	1	0	0	0	3112	623	22	2	801	2	CDH4	20	60427856	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	10020784	60427856	2597664	402	2242										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60892438	60892438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cagctggcccagctgctgtgCgtgggcctcggcggcctcca	15	16	0	0	rs373181217		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:60892438C>T	ENST00000252999.3	-	55	7540	c.7474G>A	c.(7474-7476)Gca>Aca	p.A2492T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2492	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCTGCTGTGCGTGGGCCTCG	0.701																																					p.A2492T		Atlas-SNP	.											.	LAMA5	268	.	0			c.G7474A						PASS	.		THR/ALA	1,4311		0,1,2155	13	16	15		7474	3.5	0.8	20		15	1,8509		0,1,4254	no	missense	LAMA5	NM_005560.3	58	0,2,6409	TT,TC,CC		0.0118,0.0232,0.0156	probably-damaging	2492/3696	60892438	2,12820	2156	4255	6411	SO:0001583	missense	3911	exon55			GCTGTGCGTGGGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7474G>A	20.37:g.60892438C>T	ENSP00000252999:p.Ala2492Thr	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	25	9	0.36	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.629064	0.87560	2.32E-4	1.18E-4	ENSG00000130702	ENST00000252999	T	0.39592	1.07	3.54	3.54	0.40534	.	0.000000	0.85682	U	0.000000	T	0.64349	0.2590	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71227	-0.4655	10	0.72032	D	0.01	.	14.7386	0.69437	0.0:1.0:0.0:0.0	.	2492	O15230	LAMA5_HUMAN	T	2492	ENSP00000252999:A2492T	ENSP00000252999:A2492T	A	-	1	0	LAMA5	60325833	1.000000	0.71417	0.833000	0.33012	0.717000	0.41224	7.039000	0.76544	1.522000	0.49001	0.436000	0.28706	GCA	.	.	weak		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60892438	C	T	60892438	3	4	10	1	0	0	0	0	1	0	0	0	8609	768	27	1	3717	1	LAMA5	20	60892438	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	464582	60892438	2133082	403	2243										
ARFRP1	10139	hgsc.bcm.edu	37	chr20	62333231	62333231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agacggggacaccgcacagcGcctcgctggtcaccaccttc	11	17	1	1	rs139547982	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr20:62333231G>A	ENST00000359715.5	-	5	934	c.368C>T	c.(367-369)gCg>gTg	p.A123V	ARFRP1_ENST00000324228.2_Missense_Mutation_p.A123V|ARFRP1_ENST00000485858.1_5'Flank|ARFRP1_ENST00000607873.1_Missense_Mutation_p.A76V|ARFRP1_ENST00000440854.1_Missense_Mutation_p.A123V|ARFRP1_ENST00000609142.1_Missense_Mutation_p.A123V			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	123					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ACCGCACAGCGCCTCGCTGGT	0.687													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15284	0.001		0.0	False		,,,				2504	0.0				p.A123V		Atlas-SNP	.											ARFRP1,colon,carcinoma,+1,1	ARFRP1	17	1	0			c.C368T						scavenged	.	G	VAL/ALA,VAL/ALA	1,4167		0,1,2083	48	28	35		368,368	4.6	0.6	20	dbSNP_134	35	10,8152		0,10,4071	yes	missense,missense	ARFRP1	NM_001134758.1,NM_003224.3	64,64	0,11,6154	AA,AG,GG		0.1225,0.024,0.0892	benign,benign	123/174,123/202	62333231	11,12319	2084	4081	6165	SO:0001583	missense	10139	exon6			CACAGCGCCTCGC	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"ADP-ribosylation factors"	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.368C>T	20.37:g.62333231G>A	ENSP00000352746:p.Ala123Val	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	171	4	0.0233918	NM_001134758	B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	CCDS13533.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	2	0.0034965034965034965	1	0.0013192612137203166	G	11.15	1.552881	0.27739	2.4E-4	0.001225	ENSG00000101246	ENST00000440854;ENST00000359715;ENST00000324228	T;T;T	0.63913	-0.07;-0.07;-0.07	5.53	4.57	0.56435	Small GTP-binding protein domain (1);	0.234257	0.42053	D	0.000776	T	0.41351	0.1155	L	0.33624	1.015	0.50467	D	0.999877	B	0.12630	0.006	B	0.12156	0.007	T	0.44757	-0.9307	10	0.51188	T	0.08	-29.5252	10.3719	0.44060	0.1489:0.0:0.8511:0.0	.	123	Q13795	ARFRP_HUMAN	V	123	ENSP00000403942:A123V;ENSP00000352746:A123V;ENSP00000326884:A123V	ENSP00000326884:A123V	A	-	2	0	ARFRP1	61803675	0.992000	0.36948	0.594000	0.28785	0.597000	0.36814	2.904000	0.48719	2.590000	0.87494	0.462000	0.41574	GCG	G|0.999;A|0.001	0.001	strong		0.687	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			A	62333231	G	A	62333231	3	1	10	1	0	0	0	0	1	0	0	0	856	1087	38	1	253	1	ARFRP1	20	62333231	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1440793	62333231	692289	404	2244										
PIGP	51227	hgsc.bcm.edu	37	chr21	38437947	38437947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gtttacttcactaatagaaaTatctcttaaggctggaatgg	8	6	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr21:38437947T>A	ENST00000464265.1	-	4	635	c.412A>T	c.(412-414)Att>Ttt	p.I138F	PIGP_ENST00000399102.1_Missense_Mutation_p.I114F|PIGP_ENST00000399098.1_Missense_Mutation_p.I88F|PIGP_ENST00000360525.4_Missense_Mutation_p.I114F|PIGP_ENST00000329667.3_5'UTR|PIGP_ENST00000399103.1_Missense_Mutation_p.I114F	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	138					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				CTAATAGAAATATCTCTTAAG	0.358																																					p.I138F		Atlas-SNP	.											.	PIGP	9	.	0			c.A412T						PASS	.						143	139	140					21																	38437947		2203	4300	6503	SO:0001583	missense	51227	exon4			TAGAAATATCTCT	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	3046	protein-coding gene	gene with protein product	"phosphatidylinositol-n-acetylglucosaminyltranferase subunit"	605938	"Down syndrome critical region gene 5", "phosphatidylinositol glycan, class P"	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.412A>T	21.37:g.38437947T>A	ENSP00000420037:p.Ile138Phe	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	191	45	0.235602	NM_153681	B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Missense_Mutation	SNP	ENST00000464265.1	37	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000227	0.74818	.	.	ENSG00000185808	ENST00000464265;ENST00000360525;ENST00000399102;ENST00000399103;ENST00000399098	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.52	3.01	0.34805	PIG-P (1);	0.107627	0.64402	D	0.000007	T	0.53578	0.1805	M	0.84683	2.71	0.39299	D	0.964862	P	0.49253	0.921	P	0.54210	0.745	T	0.59337	-0.7473	10	0.72032	D	0.01	-8.0575	10.1016	0.42509	0.0:0.1415:0.0:0.8585	.	138	P57054	PIGP_HUMAN	F	138;114;114;114;88	ENSP00000420037:I138F;ENSP00000353719:I114F;ENSP00000382053:I114F;ENSP00000382054:I114F;ENSP00000382049:I88F	ENSP00000353719:I114F	I	-	1	0	PIGP	37359817	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	1.091000	0.30915	0.323000	0.23307	0.533000	0.62120	ATT	.	.	none		0.358	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		A	38437947	T	A	38437947	3	1	10	1	0	0	0	0	1	0	0	0	11895	1406	49	5	68	5	PIGP	21	38437947	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10		38437947	9691948	405	2245										
DYRK1A	1859	hgsc.bcm.edu	37	chr21	38845022	38845022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	atgcaaaccttcatctgttcGgcttgcaccgtcattttcat	6	12	4	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr21:38845022G>A	ENST00000398960.2	+	2	122	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	DYRK1A_ENST00000338785.3_Missense_Mutation_p.R16Q|DYRK1A_ENST00000398956.2_Missense_Mutation_p.R16Q|DYRK1A_ENST00000321219.8_Missense_Mutation_p.R16Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.R16Q|DYRK1A_ENST00000339659.4_Missense_Mutation_p.R16Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	16					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCATCTGTTCGGCTTGCACCG	0.438																																					p.R16Q	Melanoma(114;464 1602 31203 43785 45765)	Atlas-SNP	.											DYRK1A,NS,carcinoma,+1,1	DYRK1A	85	1	0			c.G47A						scavenged	.						115	110	111					21																	38845022		2203	4300	6503	SO:0001583	missense	1859	exon2			CTGTTCGGCTTGC	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.47G>A	21.37:g.38845022G>A	ENSP00000381932:p.Arg16Gln	Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	233	4	0.0171674	NM_001396	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554137	0.96501	.	.	ENSG00000157540	ENST00000338785;ENST00000455097;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T;T	0.59502	0.36;0.43;0.27;0.4;0.36;0.26;0.4	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.23490	0.086;0.086;0.052;0.086;0.086	B;B;B;B;B	0.12837	0.008;0.008;0.002;0.005;0.008	T	0.50659	-0.8802	10	0.66056	D	0.02	.	15.4253	0.75045	0.066:0.0:0.934:0.0	.	16;16;16;16;16	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	Q	16	ENSP00000342690:R16Q;ENSP00000412269:R16Q;ENSP00000340373:R16Q;ENSP00000319032:R16Q;ENSP00000416089:R16Q;ENSP00000381932:R16Q;ENSP00000381929:R16Q	ENSP00000319032:R16Q	R	+	2	0	DYRK1A	37766892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.623000	0.50342	0.650000	0.86243	CGG	.	.	none		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		A	38845022	G	A	38845022	3	1	10	1	0	0	0	0	1	0	0	0	4854	1116	39	1	53	1	DYRK1A	21	38845022	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	407075	38845022	9284873	406	2246										
ZNF295	49854	hgsc.bcm.edu	37	chr21	43411305	43411305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cctcagattccttatgtgccGattcctctgaagcctgagac	8	13	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr21:43411305G>A	ENST00000310826.5	-	3	3083	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.S766L|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S967L|ZBTB21_ENST00000398511.3_Missense_Mutation_p.S967L	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	967					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTTATGTGCCGATTCCTCTGA	0.517																																					p.S967L		Atlas-SNP	.											ZNF295,NS,lymphoid_neoplasm,0,1	.	.	1	0			c.C2900T						scavenged	.						89	89	89					21																	43411305		2203	4300	6503	SO:0001583	missense	49854	exon3			TGTGCCGATTCCT	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2900C>T	21.37:g.43411305G>A	ENSP00000308759:p.Ser967Leu	Somatic	265	1	0.00377358		WXS	Illumina HiSeq	Phase_I	414	6	0.0144928	NM_001098402	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339361	0.24339	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08282	3.41;3.11;3.11;3.11	5.26	4.38	0.52667	.	0.631136	0.15354	N	0.266811	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	P;B	0.35192	0.489;0.177	B;B	0.27380	0.079;0.008	T	0.30707	-0.9969	10	0.49607	T	0.09	-1.4281	13.8002	0.63194	0.0738:0.0:0.9262:0.0	.	766;967	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	L	766;967;967;967	ENSP00000381517:S766L;ENSP00000308759:S967L;ENSP00000381512:S967L;ENSP00000381523:S967L	ENSP00000308759:S967L	S	-	2	0	ZNF295	42284374	0.940000	0.31905	0.005000	0.12908	0.412000	0.31113	5.241000	0.65384	1.240000	0.43803	0.655000	0.94253	TCG	.	.	none		0.517	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		A	43411305	G	A	43411305	3	1	10	1	0	0	0	0	1	0	0	0	17824	1059	37	1	304	1	ZNF295	21	43411305	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4566283	43411305	4718590	407	2247										
CLTCL1	8218	hgsc.bcm.edu	37	chr22	19217421	19217421	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcaggagtccctcagctggGcgattattcttcaaggcatc	11	11	3	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:19217421G>T	ENST00000263200.10	-	11	1794	c.1722C>A	c.(1720-1722)cgC>cgA	p.R574R	CLTCL1_ENST00000353891.5_Silent_p.R574R|CLTCL1_ENST00000427926.1_Silent_p.R574R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	574	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCAGCTGGGCGATTATTCT	0.463			T	?	ALCL																																p.R574R		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	CLTCL1,caecum,adenoma,-2,1	CLTCL1	115	1	0			c.C1722A						scavenged	.						50	49	49					22																	19217421		1952	4162	6114	SO:0001819	synonymous_variant	8218	exon11			AGCTGGGCGATTA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1722C>A	22.37:g.19217421G>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	65	2	0.0307692	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																			.	.	none		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19217421	G	T	19217421	2	4	10	1	0	0	0	0	0	0	0	1	3567	1190	42	4		4	CLTCL1	22	19217421	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10		19217421	32087145	408	2248										
GGT1	2678	hgsc.bcm.edu	37	chr22	25023903	25023903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agctctcccagcatcaccaaCgagtttggggtacccccctc	8	17	2	0	rs1041998		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:25023903C>T	ENST00000400382.1	+	13	2048	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	GGT1_ENST00000401885.1_Silent_p.N87N|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Silent_p.N87N|GGT1_ENST00000400383.1_Silent_p.N431N|GGT1_ENST00000404920.1_Silent_p.N87N|GGT1_ENST00000403838.1_Silent_p.N87N|GGT1_ENST00000248923.4_Silent_p.N431N|GGT1_ENST00000406383.2_Silent_p.N431N|GGT1_ENST00000404223.1_Silent_p.N87N|GGT1_ENST00000400380.1_Silent_p.N431N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	431					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCATCACCAACGAGTTTGGGG	0.627													c|||	1	0.000199681	0.0	0.0014	5008	,	,		10503	0.0		0.0	False		,,,				2504	0.0				p.N431N		Atlas-SNP	.											GGT1,NS,carcinoma,0,1	GGT1	68	1	0			c.C1293T						scavenged	.	C	,,,	1,4405		0,1,2202	72	79	77		1293,1293,1293,1293	0.1	0	22	dbSNP_86	77	12,8588		0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GGT1	NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2	,,,	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	,,,	431/570,431/570,431/570,431/570	25023903	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	2678	exon13			CACCAACGAGTTT	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1293C>T	22.37:g.25023903C>T		Somatic	586	7	0.0119454		WXS	Illumina HiSeq	Phase_I	540	7	0.012963	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																			.	.	weak		0.627	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		T	25023903	C	T	25023903	2	4	10	1	0	0	0	0	0	0	0	1	6361	535	19	1		1	GGT1	22	25023903	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	5806482	25023903	26280663	409	2249										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26164606	26164606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaggagggtcaaagcatagtGgggaaggggcttgggacccc	19	7	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:26164606G>A	ENST00000407587.2	+	4	892	c.723G>A	c.(721-723)gtG>gtA	p.V241V	MYO18B_ENST00000536101.1_Silent_p.V241V|MYO18B_ENST00000335473.7_Silent_p.V241V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	241						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						AAAGCATAGTGGGGAAGGGGC	0.637																																					p.V241V		Atlas-SNP	.											.	MYO18B	322	.	0			c.G723A						PASS	.						27	33	31					22																	26164606		1893	4105	5998	SO:0001819	synonymous_variant	84700	exon4			CATAGTGGGGAAG	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.723G>A	22.37:g.26164606G>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	32	7	0.21875	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				.	.	none		0.637	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26164606	G	A	26164606	2	1	10	1	0	0	0	0	0	0	0	1	10066	1335	47	2		2	MYO18B	22	26164606	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1140703	26164606	25139960	410	2250										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ccaagtctccaacgaaggagGaagcaaagtcccctgagaag					rs370929798		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		Atlas-SNP	.											NEFH,rectum,carcinoma,-2,1	NEFH	178	1	0			c.G1933A						scavenged	.						82	88	86					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	64	9	0.140625	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885562	G	A	29885562	3	1	10	1	0	0	0	0	1	0	0	0	10314	1175	41	2	1947	2	NEFH	22	29885562	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	3720956	29885562	21419004	411	2251	43	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						PASS	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	66	11	0.166667	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	10	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	2	29885564	21419002	412	2252	43	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						PASS	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	17	0.236111	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	10	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	3	29885567	21418999	413	2253	43	3								
EIF3D	8664	hgsc.bcm.edu	37	chr22	36907798	36907798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gggtgcctaggatgacgtggCgtgaggagtctttcacgtgg	18	7	2	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:36907798C>T	ENST00000216190.8	-	14	1755	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	EIF3D_ENST00000478547.1_5'Flank|EIF3D_ENST00000541106.1_Missense_Mutation_p.R413H|EIF3D_ENST00000405442.1_Missense_Mutation_p.R462H	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GATGACGTGGCGTGAGGAGTC	0.532											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R462H		Atlas-SNP	.											.	EIF3D	37	.	0			c.G1385A						PASS	.						98	72	81					22																	36907798		2203	4300	6503	SO:0001583	missense	8664	exon14			ACGTGGCGTGAGG	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1385G>A	22.37:g.36907798C>T	ENSP00000216190:p.Arg462His	Somatic	180	0	0	866	WXS	Illumina HiSeq	Phase_I	194	90	0.463918	NM_003753		Missense_Mutation	SNP	ENST00000216190.8	37	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166071	0.78339	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000426531;ENST00000458572	.	.	.	6.07	5.04	0.67666	.	0.044401	0.85682	D	0.000000	T	0.47673	0.1458	L	0.39326	1.205	0.80722	D	1	B;P	0.38565	0.162;0.637	B;B	0.31547	0.017;0.132	T	0.45323	-0.9269	9	0.34782	T	0.22	-13.3282	17.384	0.87411	0.0:0.8752:0.1248:0.0	.	413;462	B4DVY1;O15371	.;EIF3D_HUMAN	H	462;447;413;462;115;149	.	ENSP00000216190:R462H	R	-	2	0	EIF3D	35237744	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.129000	0.77225	1.554000	0.49487	0.655000	0.94253	CGC	.	.	none		0.532	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			T	36907798	C	T	36907798	3	4	10	1	0	0	0	0	1	0	0	0	5014	768	27	1	269	1	EIF3D	22	36907798	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7022231	36907798	14396768	414	2254										
CARD10	29775	hgsc.bcm.edu	37	chr22	37912258	37912258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcgagcttcccgcagccgtcGcacctctgtcatcaagaatt	9	15	3	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:37912258G>A	ENST00000403299.1	-	4	637	c.421C>T	c.(421-423)Cga>Tga	p.R141*	CARD10_ENST00000494166.1_5'Flank|CARD10_ENST00000251973.5_Nonsense_Mutation_p.R141*			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	141					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGCAGCCGTCGCACCTCTGTC	0.647																																					p.R141X		Atlas-SNP	.											CARD10,NS,carcinoma,+1,1	CARD10	55	1	0			c.C421T						scavenged	.						14	15	14					22																	37912258		2191	4291	6482	SO:0001587	stop_gained	29775	exon3			GCCGTCGCACCTC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.421C>T	22.37:g.37912258G>A	ENSP00000384570:p.Arg141*	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	33	2	0.0606061	NM_014550	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Nonsense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	37	6.491763	0.97612	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	.	.	.	5.27	4.16	0.48862	.	0.143577	0.44483	D	0.000451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-28.1082	11.0124	0.47669	0.0:0.0:0.5985:0.4015	.	.	.	.	X	141	.	ENSP00000251973:R141X	R	-	1	2	CARD10	36242204	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.304000	0.59104	2.610000	0.88304	0.563000	0.77884	CGA	.	.	none		0.647	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		A	37912258	G	A	37912258	4	1	10	1	0	0	0	0	0	1	0	0	2644	1095	38	1	2749	1	CARD10	22	37912258	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1004460	37912258	13392308	415	2255										
SH3BP1	23616	hgsc.bcm.edu	37	chr22	38035817	38035817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gatgaagaggcagctgcaccGcatgcggcagctggcccaga	15	12	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:38035817G>A	ENST00000357436.4	+	1	336	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SH3BP1_ENST00000599616.1_5'Flank|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R8H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R8H	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	8					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAGCTGCACCGCATGCGGCAG	0.706																																					p.R8H		Atlas-SNP	.											.	SH3BP1	41	.	0			c.G23A						PASS	.						5	7	6					22																	38035817		1930	3890	5820	SO:0001583	missense	23616	exon1			TGCACCGCATGCG		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.23G>A	22.37:g.38035817G>A	ENSP00000350018:p.Arg8His	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	61	7	0.114754	NM_018957	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015241	0.93404	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465	T;T;T	0.80653	-1.4;-1.4;-1.4	3.95	3.95	0.45737	BAR (1);	0.000000	0.47455	D	0.000234	D	0.86493	0.5946	L	0.54323	1.7	0.47621	D	0.999478	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.959	D	0.88038	0.2779	10	0.87932	D	0	.	14.2854	0.66243	0.0:0.0:1.0:0.0	.	8;8	F5GZA8;Q9Y3L3	.;3BP1_HUMAN	H	8	ENSP00000350018:R8H;ENSP00000337213:R8H;ENSP00000395126:R8H	ENSP00000337213:R8H	R	+	2	0	SH3BP1	36365763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.636000	0.61339	2.187000	0.69744	0.609000	0.83330	CGC	.	.	none		0.706	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		A	38035817	G	A	38035817	3	1	10	1	0	0	0	0	1	0	0	0	14244	1087	38	1	25	1	SH3BP1	22	38035817	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	123559	38035817	13268749	416	2256										
APOBEC3A	200315	hgsc.bcm.edu	37	chr22	39357649	39357649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaggcactgcaaatgctgcgGgatgctggggcccaagtctc	15	11	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:39357649G>A	ENST00000402255.1	+	4	636	c.432G>A	c.(430-432)cgG>cgA	p.R144R	APOBEC3A_ENST00000249116.2_Silent_p.R144R			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	144					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					AAATGCTGCGGGATGCTGGGG	0.557																																					p.R144R		Atlas-SNP	.											APOBEC3A,lower_third,carcinoma,+2,1	APOBEC3A	20	1	0			c.G432A						scavenged	.						25	36	33					22																	39357649		1998	3968	5966	SO:0001819	synonymous_variant	200315	exon3			GCTGCGGGATGCT	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.432G>A	22.37:g.39357649G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	120	2	0.0166667	NM_145699	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			.	.	none		0.557	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		A	39357649	G	A	39357649	2	1	10	1	0	0	0	0	0	0	0	1	789	1219	43	2		2	APOBEC3A	22	39357649	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1321832	39357649	11946917	417	2257										
APOBEC3D	140564	hgsc.bcm.edu	37	chr22	39421654	39421654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	acaattatgcatccctgcacCgcacgctaaaggagattctc	7	13	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:39421654C>T	ENST00000216099.8	+	4	990	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.R195C|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	195					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.R264C(1)|p.R195C(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					ATCCCTGCACCGCACGCTAAA	0.532																																					p.R195C		Atlas-SNP	.											APOBEC3D_ENST00000381568,NS,carcinoma,0,4	APOBEC3D	61	4	2	Substitution - Missense(2)	endometrium(2)	c.C583T						scavenged	.						290	251	264					22																	39421654		2203	4300	6503	SO:0001583	missense	140564	exon4			CTGCACCGCACGC	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.583C>T	22.37:g.39421654C>T	ENSP00000216099:p.Arg195Cys	Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	298	5	0.0167785	NM_152426	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	1.037	-0.679932	0.03353	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.66280	-0.2;-0.2	2.44	-4.88	0.03113	.	.	.	.	.	T	0.36358	0.0964	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06698	-1.0812	9	0.40728	T	0.16	.	0.797	0.01068	0.1922:0.128:0.2869:0.3929	.	195	Q96AK3	ABC3D_HUMAN	C	195	ENSP00000370980:R195C;ENSP00000216099:R195C	ENSP00000216099:R195C	R	+	1	0	APOBEC3D	37751600	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.246000	0.00138	-3.006000	0.00274	-1.827000	0.00596	CGC	.	.	none		0.532	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		T	39421654	C	T	39421654	3	4	10	1	0	0	0	0	1	0	0	0	792	652	23	1	597	1	APOBEC3D	22	39421654	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	64005	39421654	11882912	418	2258										
APOBEC3F	200316	hgsc.bcm.edu	37	chr22	39441197	39441197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgcaggctgagtcaggcaggGgcccgcgtgaagattatgga	17	8	1	3	rs200983508	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:39441197G>A	ENST00000308521.5	+	3	780	c.423G>A	c.(421-423)ggG>ggA	p.G141G	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	141					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G141G(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GTCAGGCAGGGGCCCGCGTGA	0.592																																					p.G141G		Atlas-SNP	.											APOBEC3F,NS,carcinoma,0,1	APOBEC3F	37	1	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.G423A						scavenged	.						47	49	48					22																	39441197		2203	4300	6503	SO:0001819	synonymous_variant	200316	exon3			GGCAGGGGCCCGC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.423G>A	22.37:g.39441197G>A		Somatic	133	5	0.037594		WXS	Illumina HiSeq	Phase_I	143	5	0.034965	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																			G|0.998;A|0.002	0.002	strong		0.592	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39441197	G	A	39441197	2	1	10	1	0	0	0	0	0	0	0	1	793	1219	43	2		2	APOBEC3F	22	39441197	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	19543	39441197	11863369	419	2259										
PDGFB	5155	hgsc.bcm.edu	37	chr22	39627798	39627798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tcggtgcgcgtcttgcactcGgcgatcatggccggctcagc	14	14	3	0	rs147036196		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:39627798G>A	ENST00000331163.6	-	4	1072	c.285C>T	c.(283-285)gcC>gcT	p.A95A	PDGFB_ENST00000381551.4_Silent_p.A80A	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	95					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					TCTTGCACTCGGCGATCATGG	0.647			T	COL1A1	DFSP								G|||	1	0.000199681	0.0008	0.0	5008	,	,		14561	0.0		0.0	False		,,,				2504	0.0				p.A95A		Atlas-SNP	.		Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	.	PDGFB	91	.	0			c.C285T						PASS	.	G	,	5,4401	11.4+/-27.6	0,5,2198	46	39	41		285,240	-4	1	22	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PDGFB	NM_002608.2,NM_033016.2	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	95/242,80/227	39627798	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5155	exon4			GCACTCGGCGATC		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.285C>T	22.37:g.39627798G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	31	0.508197	NM_002608	G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	CCDS13987.1																																																																																			G|1.000;A|0.000	0.000	weak		0.647	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		A	39627798	G	A	39627798	2	1	10	1	0	0	0	0	0	0	0	1	11658	1103	39	1		1	PDGFB	22	39627798	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	186601	39627798	11676768	420	2260										
RPL3	6122	hgsc.bcm.edu	37	chr22	39714450	39714450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cacgatgtgagtcatgccagCcttgtatcccaggaaggctg	12	11	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:39714450C>T	ENST00000216146.4	-	2	324	c.151G>A	c.(151-153)Gct>Act	p.A51T	SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	51					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GTCATGCCAGCCTTGTATCCC	0.577																																					p.A51T		Atlas-SNP	.											.	RPL3	29	.	0			c.G151A						PASS	.						77	72	74					22																	39714450		2203	4300	6503	SO:0001583	missense	6122	exon2			TGCCAGCCTTGTA	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.151G>A	22.37:g.39714450C>T	ENSP00000346001:p.Ala51Thr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	90	21	0.233333	NM_001033853	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.552848|5.552848	0.96501|0.96501	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000216146;ENST00000453303|ENST00000427905	T;T|.	0.25749|.	1.78;1.78|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.051981|.	0.85682|.	D|.	0.000000|.	D|D	0.90280|0.90280	0.6960|0.6960	H|H	0.98111|0.98111	4.15|4.15	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94293|0.94293	0.7530|0.7530	10|5	0.87932|.	D|.	0|.	.|.	17.6103|17.6103	0.88050|0.88050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51|.	P39023;B3KS36|.	RL3_HUMAN;.|.	T|D	51;78|82	ENSP00000346001:A51T;ENSP00000415198:A78T|.	ENSP00000346001:A51T|.	A|G	-|-	1|2	0|0	RPL3|RPL3	38044396|38044396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.464000|4.464000	0.60134|0.60134	2.150000|2.150000	0.67090|0.67090	0.455000|0.455000	0.32223|0.32223	GCT|GGC	.	.	none		0.577	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		T	39714450	C	T	39714450	3	4	10	1	0	0	0	0	1	0	0	0	13579	739	26	2	1096	2	RPL3	22	39714450	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	86652	39714450	11590116	421	2261										
TNRC6B	23112	hgsc.bcm.edu	37	chr22	40661027	40661027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctggaaatctgaccctaagGctaaatctgttcaatcttcc	6	11	5	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:40661027G>T	ENST00000454349.2	+	5	1004	c.793G>T	c.(793-795)Gct>Tct	p.A265S	TNRC6B_ENST00000335727.9_Missense_Mutation_p.A265S|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	265	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGACCCTAAGGCTAAATCTGT	0.468																																					p.A265S		Atlas-SNP	.											.	TNRC6B	195	.	0			c.G793T						PASS	.						109	105	107					22																	40661027		1899	4123	6022	SO:0001583	missense	23112	exon5			CCTAAGGCTAAAT	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.793G>T	22.37:g.40661027G>T	ENSP00000401946:p.Ala265Ser	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	37	0.521127	NM_001162501	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.104|8.104	0.777317|0.777317	0.16120|0.16120	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.51574|.	0.7;0.7|.	4.93|4.93	3.77|3.77	0.43336|0.43336	.|.	0.324254|.	0.32769|.	N|.	0.005673|.	T|T	0.30008|0.30008	0.0751|0.0751	N|N	0.16903|0.16903	0.455|0.455	0.31485|0.31485	N|N	0.666686|0.666686	B;B;B|.	0.22683|.	0.044;0.005;0.073|.	B;B;B|.	0.21917|.	0.036;0.01;0.037|.	T|T	0.30822|0.30822	-0.9965|-0.9965	10|5	0.08179|.	T|.	0.78|.	-0.1419|-0.1419	10.9081|10.9081	0.47092|0.47092	0.1037:0.0:0.8963:0.0|0.1037:0.0:0.8963:0.0	.|.	265;265;265|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	S|S	265|7	ENSP00000401946:A265S;ENSP00000338371:A265S|.	ENSP00000338371:A265S|.	A|R	+|+	1|3	0|2	TNRC6B|TNRC6B	38990973|38990973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.482000|1.482000	0.35486|0.35486	0.801000|0.801000	0.34066|0.34066	0.650000|0.650000	0.86243|0.86243	GCT|AGG	.	.	none		0.468	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	40661027	G	T	40661027	3	4	10	1	0	0	0	0	1	0	0	0	16338	1203	42	4	932	4	TNRC6B	22	40661027	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	946577	40661027	10643539	422	2262										
SLC25A17	10478	hgsc.bcm.edu	37	chr22	41188619	41188619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctattaaaagtgtagaaatAgacaaaattggagcagcaga	10	4	0	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:41188619A>C	ENST00000435456.2	-	4	377	c.244T>G	c.(244-246)Tat>Gat	p.Y82D	SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.Y45D	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	82	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						gtgtagaaatagacaaaattg	0.433																																					p.Y82D		Atlas-SNP	.											.	SLC25A17	25	.	0			c.T244G						PASS	.						75	73	74					22																	41188619		2203	4300	6503	SO:0001583	missense	10478	exon4			AGAAATAGACAAA	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"Solute carriers"	10987	protein-coding gene	gene with protein product	"peroxisomal membrane protein (34kD)"	606795	"solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.244T>G	22.37:g.41188619A>C	ENSP00000390722:p.Tyr82Asp	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	161	38	0.236025	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	A	8.423	0.846912	0.17034	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	T;T;T	0.80123	-1.34;-1.34;-1.34	1.83	1.83	0.25207	Mitochondrial carrier domain (2);	0.065605	0.64402	D	0.000006	D	0.89705	0.6792	M	0.93241	3.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.88155	0.2853	10	0.72032	D	0.01	-27.4517	5.7627	0.18209	1.0:0.0:0.0:0.0	.	45;82	B4DU97;O43808	.;PM34_HUMAN	D	82;45;65	ENSP00000390722:Y82D;ENSP00000438355:Y45D;ENSP00000404200:Y65D	ENSP00000394539:Y82D	Y	-	1	0	SLC25A17	39518565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.290000	0.43531	1.108000	0.41662	0.327000	0.21459	TAT	.	.	none		0.433	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		C	41188619	A	C	41188619	3	2	10	1	0	0	0	0	1	0	0	0	14479	420	15	5	703	5	SLC25A17	22	41188619	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	527592	41188619	10115947	423	2263										
CYP2D6	1565	hgsc.bcm.edu	37	chr22	42523539	42523539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccccaaagcgctgcacctcAtgaatcacggcagtggtgta	10	13	2	1	rs28371726	byFrequency	TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chr22:42523539A>G	ENST00000360608.5	-	7	1197	c.1083T>C	c.(1081-1083)caT>caC	p.H361H	NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.H361H|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.H310H|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	361					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCACCTCATGAATCACGG	0.602																																					p.H361H		Atlas-SNP	.											CYP2D6_ENST00000360608,NS,carcinoma,0,4	CYP2D6	104	4	0			c.T1083C						scavenged	.						119	93	102					22																	42523539		2202	4299	6501	SO:0001819	synonymous_variant	1565	exon7			CACCTCATGAATC	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1083T>C	22.37:g.42523539A>G		Somatic	219	3	0.0136986		WXS	Illumina HiSeq	Phase_I	169	6	0.035503	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																			A|0.959;G|0.041	0.041	strong		0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			G	42523539	A	G	42523539	2	3	10	1	0	0	0	0	0	0	0	1	4169	214	8	2		2	CYP2D6	22	42523539	Silent	SNP	A	TCGA-FF-8041-01A-11D-2210-10	1334920	42523539	8781027	424	2264										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1584574	1584574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	attcccgggacgcaaagtaaTaaacaaacgggtccagacag	10	10	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:1584574T>A	ENST00000381297.4	-	2	1088	c.878A>T	c.(877-879)tAt>tTt	p.Y293F	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCAAAGTAATAAACAAACGG	0.592			T	CRLF2	"B-ALL, Downs associated ALL"																																p.Y293F		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.A878T						PASS	.						110	110	110					X																	1584574		2203	4296	6499	SO:0001583	missense	286530	exon2			AAGTAATAAACAA	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.878A>T	X.37:g.1584574T>A	ENSP00000370697:p.Tyr293Phe	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	120	74	0.616667	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	t	14.85	2.658567	0.47467	.	.	ENSG00000182162	ENST00000381297	D	0.92911	-3.13	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000003	D	0.94288	0.8165	M	0.64260	1.97	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87643	0.2523	10	0.87932	D	0	.	10.6579	0.45686	0.0:0.0:0.0:1.0	.	293	Q86VZ1	P2RY8_HUMAN	F	293	ENSP00000370697:Y293F	ENSP00000370697:Y293F	Y	-	2	0	P2RY8	1544574	1.000000	0.71417	0.971000	0.41717	0.141000	0.21300	6.181000	0.71988	0.823000	0.34589	0.230000	0.17803	TAT	.	.	none		0.592	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1584574	T	A	1584574	3	1	10	1	0	0	0	0	1	0	0	0	11355	1406	49	5	205	5	P2RY8	23	1584574	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10		1584574	153685986	425	2265										
CTPS2	56474	hgsc.bcm.edu	37	chrX	16711587	16711587	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccacaaacggcattccttcGatgtctccaatggtgcctcc	7	15	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:16711587G>T	ENST00000443824.1	-	5	1205	c.462C>A	c.(460-462)atC>atA	p.I154I	CTPS2_ENST00000359276.4_Silent_p.I154I|CTPS2_ENST00000380241.3_Silent_p.I154I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	154					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GCATTCCTTCGATGTCTCCAA	0.438																																					p.I154I		Atlas-SNP	.											.	CTPS2	49	.	0			c.C462A						PASS	.						104	96	99					X																	16711587		2203	4300	6503	SO:0001819	synonymous_variant	56474	exon5			TCCTTCGATGTCT	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.462C>A	X.37:g.16711587G>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	156	44	0.282051	NM_001144002	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	CCDS14175.1																																																																																			.	.	none		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		T	16711587	G	T	16711587	2	4	10	1	0	0	0	0	0	0	0	1	4023	1048	37	4		4	CTPS2	23	16711587	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	15127013	16711587	138558973	426	2266										
USP11	8237	hgsc.bcm.edu	37	chrX	47092477	47092477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agcaaatccagctgctgctgCggcggctgtggcggcggcag	17	12	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:47092477C>T	ENST00000218348.3	+	1	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	USP11_ENST00000377107.2_Missense_Mutation_p.A12V	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	55					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						gctgctgctgcggcggctgtg	0.647																																					p.A55V		Atlas-SNP	.											.	USP11	93	.	0			c.C164T						PASS	.						11	11	11					X																	47092477		2170	4226	6396	SO:0001583	missense	8237	exon1			CTGCTGCGGCGGC	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.164C>T	X.37:g.47092477C>T	ENSP00000218348:p.Ala55Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	83	24	0.289157	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151779	0.57151	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22134	1.97;1.99	1.61	1.61	0.23674	.	0.542706	0.13946	N	0.351850	T	0.19406	0.0466	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.54372	0.75	T	0.06679	-1.0813	10	0.66056	D	0.02	.	6.0062	0.19547	0.0:1.0:0.0:0.0	.	55	P51784	UBP11_HUMAN	V	12;55	ENSP00000366311:A12V;ENSP00000218348:A55V	ENSP00000218348:A55V	A	+	2	0	USP11	46977421	0.069000	0.21087	0.003000	0.11579	0.006000	0.05464	0.406000	0.21032	1.066000	0.40716	0.513000	0.50165	GCG	.	.	none		0.647	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		T	47092477	C	T	47092477	3	4	10	1	0	0	0	0	1	0	0	0	17039	768	27	1	166	1	USP11	23	47092477	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	30380890	47092477	108178083	427	2267										
SSX3	10214	hgsc.bcm.edu	37	chrX	48209473	48209473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tggttttcccggggggcacaGctgtttcccatcgttttgtg	13	10	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:48209473G>A	ENST00000298396.2	-	6	467	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	SSX3_ENST00000376893.3_Silent_p.L139L|SSX3_ENST00000376895.1_Silent_p.L51L	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GGGGGGCACAGCTGTTTCCCA	0.488																																					p.L139L	Colon(37;227 826 19399 40970 48007)	Atlas-SNP	.											.	SSX3	64	.	0			c.C415T						PASS	.						251	230	237					X																	48209473		2203	4300	6503	SO:0001819	synonymous_variant	10214	exon6			GGCACAGCTGTTT	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.415C>T	X.37:g.48209473G>A		Somatic	858	1	0.0011655		WXS	Illumina HiSeq	Phase_I	825	350	0.424242	NM_021014	O60223|Q5JQZ3|Q9BRW7	Silent	SNP	ENST00000298396.2	37	CCDS14291.1																																																																																			.	.	none		0.488	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		A	48209473	G	A	48209473	2	1	10	1	0	0	0	0	0	0	0	1	15204	962	34	2		2	SSX3	23	48209473	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	1116996	48209473	107061087	428	2268										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49061779	49061779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctcctgcttggccagggccaCgaaacgtgggtctcgagcaa	13	13	1	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:49061779C>T	ENST00000376265.2	-	48	5813	c.5752G>A	c.(5752-5754)Gtg>Atg	p.V1918M	SYP-AS1_ENST00000433499.1_RNA|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1853M|AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1907M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1918					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCAGGGCCACGAAACGTGGG	0.597																																					p.V1918M		Atlas-SNP	.											.	CACNA1F	218	.	0			c.G5752A						PASS	.						65	39	47					X																	49061779		2203	4300	6503	SO:0001583	missense	778	exon48			GGGCCACGAAACG	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5752G>A	X.37:g.49061779C>T	ENSP00000365441:p.Val1918Met	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	137	65	0.474453	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297889	0.60086	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.60548	0.18;0.18;0.18	4.95	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.69052	0.3068	M	0.74467	2.265	0.48452	D	0.999656	D;D	0.76494	0.999;0.997	P;P	0.57057	0.812;0.654	T	0.74349	-0.3694	10	0.87932	D	0	.	12.3113	0.54929	0.1697:0.8303:0.0:0.0	.	1907;1918	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1853;1907;1918	ENSP00000365427:V1853M;ENSP00000321618:V1907M;ENSP00000365441:V1918M	ENSP00000321618:V1907M	V	-	1	0	CACNA1F	48948723	0.999000	0.42202	0.915000	0.36163	0.519000	0.34347	3.722000	0.54948	2.178000	0.69098	0.529000	0.55759	GTG	.	.	none		0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49061779	C	T	49061779	3	4	10	1	0	0	0	0	1	0	0	0	2543	536	19	1	185	1	CACNA1F	23	49061779	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	852306	49061779	106208781	429	2269										
UBQLN2	29978	hgsc.bcm.edu	37	chrX	56591532	56591532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tccagatttggctgcacagaTgatgctgaatagcccgctgt	11	10	0	4			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:56591532T>C	ENST00000338222.5	+	1	1507	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	409					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGCACAGATGATGCTGAAT	0.527																																					p.M409T	Esophageal Squamous(104;218 1492 6022 10838 28884)	Atlas-SNP	.											.	UBQLN2	55	.	0			c.T1226C						PASS	.						39	33	35					X																	56591532		2203	4300	6503	SO:0001583	missense	29978	exon1			CACAGATGATGCT	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1226T>C	X.37:g.56591532T>C	ENSP00000345195:p.Met409Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	131	57	0.435115	NM_013444	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004951	0.35415	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.85088	-1.94	4.73	4.73	0.59995	Heat shock chaperonin-binding (1);	0.145633	0.49916	D	0.000140	D	0.84028	0.5382	M	0.80616	2.505	0.47245	D	0.999362	P;P	0.42649	0.786;0.61	B;B	0.37451	0.25;0.191	D	0.85805	0.1376	10	0.59425	D	0.04	-10.2918	11.3192	0.49410	0.0:0.0:0.0:1.0	.	409;409	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	T	409	ENSP00000345195:M409T	ENSP00000345195:M409T	M	+	2	0	UBQLN2	56608257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.816000	0.86201	1.874000	0.54306	0.481000	0.45027	ATG	.	.	none		0.527	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		C	56591532	T	C	56591532	3	2	10	1	0	0	0	0	1	0	0	0	16894	1464	51	2	1228	2	UBQLN2	23	56591532	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	7529753	56591532	98679028	430	2270										
AR	367	hgsc.bcm.edu	37	chrX	66905872	66905872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggaaacagaagtacctgtgcGccagcagaaatgattgcact	11	9	0	3	rs137852569		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:66905872G>A	ENST00000374690.3	+	3	2313	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	AR_ENST00000396043.2_Missense_Mutation_p.A65T|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A597T|AR_ENST00000504326.1_Missense_Mutation_p.A597T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors). {ECO:0000269|PubMed:1316540}.|S -> T (in a patient with severe hypospadias). {ECO:0000269|PubMed:10092153}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413									Androgen Insensitivity Syndrome																												p.A597T		Atlas-SNP	.											.	AR	249	.	0			c.G1789A	GRCh37	CM920071	AR	M	rs137852569	PASS	.						106	93	97					X																	66905872		2203	4300	6503	SO:0001583	missense	367	exon3	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	CTGTGCGCCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1789G>A	X.37:g.66905872G>A	ENSP00000363822:p.Ala597Thr	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	59	4	0.0677966	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214457	0.58452	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.32	4.47	0.54385	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	L	0.45352	1.415	0.80722	D	1	P;P;D;B	0.89917	0.881;0.881;1.0;0.343	B;B;D;B	0.97110	0.175;0.175;1.0;0.076	D	0.97171	0.9844	10	0.87932	D	0	.	10.6719	0.45764	0.0936:0.0:0.9064:0.0	.	597;597;65;596	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	T	407;597;597;597;65	ENSP00000363822:A597T;ENSP00000421155:A597T;ENSP00000379359:A597T;ENSP00000379358:A65T	ENSP00000363822:A597T	A	+	1	0	AR	66822597	1.000000	0.71417	0.987000	0.45799	0.102000	0.19082	9.050000	0.93843	1.228000	0.43614	-0.306000	0.09157	GCC	.	.	weak		0.413	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66905872	G	A	66905872	3	1	10	1	0	0	0	0	1	0	0	0	836	1087	38	1	1823	1	AR	23	66905872	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	10314340	66905872	88364688	431	2271										
DGAT2L6	347516	hgsc.bcm.edu	37	chrX	69424867	69424867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	agacagtagacaagtatcacGcactctacatcagtgccctg	8	12	3	2	rs35142503		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:69424867G>A	ENST00000333026.3	+	7	1025	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	309					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CAAGTATCACGCACTCTACAT	0.458																																					p.A309T		Atlas-SNP	.											.	DGAT2L6	40	.	0			c.G925A						PASS	.	G	THR/ALA	4,3831		0,4,1628,571	95	75	82		925	1.6	0.2	X	dbSNP_126	82	0,6728		0,0,2428,1872	yes	missense	DGAT2L6	NM_198512.1	58	0,4,4056,2443	AA,AG,GG,G		0.0,0.1043,0.0379	benign	309/338	69424867	4,10559	2203	4300	6503	SO:0001583	missense	347516	exon7			TATCACGCACTCT	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.925G>A	X.37:g.69424867G>A	ENSP00000328036:p.Ala309Thr	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	297	49	0.164983	NM_198512	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	8.546	0.874318	0.17395	0.001043	0.0	ENSG00000184210	ENST00000333026	D	0.93547	-3.24	4.74	1.62	0.23740	.	0.774326	0.12002	N	0.508712	D	0.88640	0.6491	L	0.49455	1.56	0.21822	N	0.999526	B	0.16603	0.018	B	0.16289	0.015	T	0.73404	-0.3993	10	0.19147	T	0.46	-22.9304	7.1522	0.25616	0.3674:0.0:0.6325:0.0	rs35142503	309	Q6ZPD8	DG2L6_HUMAN	T	309	ENSP00000328036:A309T	ENSP00000328036:A309T	A	+	1	0	DGAT2L6	69341592	0.000000	0.05858	0.172000	0.22920	0.534000	0.34807	0.658000	0.24979	0.002000	0.14630	-0.192000	0.12808	GCA	G|0.987;A|0.013	0.013	weak		0.458	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69424867	G	A	69424867	3	1	10	1	0	0	0	0	1	0	0	0	4459	1087	38	1	951	1	DGAT2L6	23	69424867	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	2518995	69424867	85845693	432	2272										
CXorf26	51260	hgsc.bcm.edu	37	chrX	75395309	75395309	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ttgtcttactgtttcgcagcTgatttcatcagttgacccac	7	11	3	2			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:75395309T>C	ENST00000373358.3	+	4	361	c.158T>C	c.(157-159)cTg>cCg	p.L53P	PBDC1_ENST00000373357.3_Splice_Site_p.L53P	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	53																	GTTTCGCAGCTGATTTCATCA	0.413																																					p.L53P		Atlas-SNP	.											.	.	.	.	0			c.T158C						PASS	.						86	75	79					X																	75395309		2203	4300	6503	SO:0001630	splice_region_variant	51260	exon4			CGCAGCTGATTTC	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.157-1T>C	X.37:g.75395309T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	28	0.282828	NM_016500		Missense_Mutation	SNP	ENST00000373358.3	37	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885632	0.72410	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	4.77	4.77	0.60923	Yst0336-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85370	0.1113	9	0.87932	D	0	-8.4595	11.3241	0.49438	0.0:0.0:0.0:1.0	.	53	Q9BVG4	CX026_HUMAN	P	53	.	ENSP00000362455:L53P	L	+	2	0	CXorf26	75311711	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.748000	0.68697	1.875000	0.54330	0.486000	0.48141	CTG	.	.	none		0.413	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500	Missense_Mutation	C	75395309	T	C	75395309	5	2	10	1	0	0	0	0	0	0	1	0	4104	1594	55	3	172	3	CXorf26	23	75395309	Splice_Site	SNP	T	TCGA-FF-8041-01A-11D-2210-10	5970442	75395309	79875251	433	2273										
MAGEE1	57692	hgsc.bcm.edu	37	chrX	75648638	75648638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggacctggcacctccgtgctGcccacccccagtgagggcct	12	18	0	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:75648638G>A	ENST00000361470.2	+	1	593	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	105						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCTGCCCACCCCCA	0.677																																					p.L105L		Atlas-SNP	.											.	MAGEE1	236	.	0			c.G315A						PASS	.						21	22	22					X																	75648638		2203	4299	6502	SO:0001819	synonymous_variant	57692	exon1			CGTGCTGCCCACC	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.315G>A	X.37:g.75648638G>A		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	152	21	0.138158	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																			.	.	none		0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		A	75648638	G	A	75648638	2	1	10	1	0	0	0	0	0	0	0	1	9185	1306	46	2		2	MAGEE1	23	75648638	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	253329	75648638	79621922	434	2274										
NAP1L3	4675	hgsc.bcm.edu	37	chrX	92928107	92928107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggctgcggctgctagtgctgCcgctgctgctgctgctgctg	16	13	0	0	rs62635803		TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:92928107C>A	ENST00000373079.3	-	1	460	c.197G>T	c.(196-198)gGc>gTc	p.G66V	NAP1L3_ENST00000475430.2_Missense_Mutation_p.G59V|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	66	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						gctagtgctgccgctgctgct	0.612													C|||	27	0.00715232	0.0204	0.0	3775	,	,		7467	0.0		0.0	False		,,,				2504	0.0				p.G66V		Atlas-SNP	.											.	NAP1L3	81	.	0			c.G197T						PASS	.	C	VAL/GLY	81,3313		1,68,11,1394,457	8	9	9		197	0.9	0.1	X	dbSNP_129	9	0,5910		0,0,0,2185,1540	yes	missense	NAP1L3	NM_004538.5	109	1,68,11,3579,1997	AA,AC,A,CC,C		0.0,2.3866,0.8706	probably-damaging	66/507	92928107	81,9223	1931	3725	5656	SO:0001583	missense	4675	exon1			GTGCTGCCGCTGC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.197G>T	X.37:g.92928107C>A	ENSP00000362171:p.Gly66Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	14	0.205882	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	12	0.007233273056057866	9	0.01859504132231405	0	0.0	0	0.0	0	0.0	C	3.961	-0.010248	0.07727	0.023866	0.0	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.29142	1.58	0.913	0.913	0.19354	.	0.385153	0.26231	N	0.025574	T	0.06234	0.0161	N	0.14661	0.345	0.32519	N	0.536487	B	0.30482	0.281	B	0.22753	0.041	T	0.26155	-1.0111	9	0.12766	T	0.61	.	.	.	.	.	66	Q99457	NP1L3_HUMAN	V	66;59	ENSP00000362171:G66V	ENSP00000362171:G66V	G	-	2	0	NAP1L3	92814763	0.001000	0.12720	0.051000	0.19133	0.018000	0.09664	0.098000	0.15189	0.718000	0.32166	0.292000	0.19580	GGC	C|0.992;A|0.008	0.008	strong		0.612	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		A	92928107	C	A	92928107	3	1	10	1	0	0	0	0	1	0	0	0	10158	739	26	4	1327	4	NAP1L3	23	92928107	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	17279469	92928107	62342453	435	2275										
NAP1L3	4675	hgsc.bcm.edu	37	chrX	92928124	92928124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ctgccgctgctgctgctgctGctgccgctgccgctgctgct	13	17	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:92928124G>T	ENST00000373079.3	-	1	443	c.180C>A	c.(178-180)agC>agA	p.S60R	NAP1L3_ENST00000475430.2_Missense_Mutation_p.S53R|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	60	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tgctgctgctgctgccgctgc	0.617																																					p.S60R		Atlas-SNP	.											.	NAP1L3	81	.	0			c.C180A						PASS	.						8	9	9					X																	92928124		1938	3702	5640	SO:0001583	missense	4675	exon1			GCTGCTGCTGCCG		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.180C>A	X.37:g.92928124G>T	ENSP00000362171:p.Ser60Arg	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	63	10	0.15873	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	3.522	-0.097600	0.07010	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.35048	1.33	1.57	1.57	0.23409	.	.	.	.	.	T	0.18045	0.0433	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.17137	-1.0379	9	0.28530	T	0.3	.	4.6764	0.12713	0.0:0.0:0.6303:0.3697	.	60	Q99457	NP1L3_HUMAN	R	60;53	ENSP00000362171:S60R	ENSP00000362171:S60R	S	-	3	2	NAP1L3	92814780	0.521000	0.26258	0.014000	0.15608	0.005000	0.04900	0.666000	0.25097	1.056000	0.40484	0.292000	0.19580	AGC	.	.	none		0.617	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		T	92928124	G	T	92928124	3	4	10	1	0	0	0	0	1	0	0	0	10158	1310	46	4	1344	4	NAP1L3	23	92928124	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	17	92928124	62342436	436	2276										
DRP2	1821	hgsc.bcm.edu	37	chrX	100509422	100509422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tctcctcctcagaccacatcCagtgagaacatgagggactt	8	13	2	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:100509422C>T	ENST00000395209.3	+	18	2513	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	DRP2_ENST00000538510.1_Silent_p.S662S|DRP2_ENST00000541709.1_Silent_p.S584S|DRP2_ENST00000402866.1_Silent_p.S662S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	662					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGACCACATCCAGTGAGAACA	0.507																																					p.S662S		Atlas-SNP	.											.	DRP2	98	.	0			c.C1986T						PASS	.						110	81	90					X																	100509422		2203	4300	6503	SO:0001819	synonymous_variant	1821	exon18			CACATCCAGTGAG	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1986C>T	X.37:g.100509422C>T		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	351	67	0.190883	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	CCDS14480.2																																																																																			.	.	none		0.507	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100509422	C	T	100509422	2	4	10	1	0	0	0	0	0	0	0	1	4764	581	21	2		2	DRP2	23	100509422	Silent	SNP	C	TCGA-FF-8041-01A-11D-2210-10	7581298	100509422	54761138	437	2277										
MUM1L1	139221	hgsc.bcm.edu	37	chrX	105449437	105449437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	taaaccataatggagtctgaGtatgtcctatgcaactggaa	9	7	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:105449437G>A	ENST00000357175.2	+	4	661	c.12G>A	c.(10-12)gaG>gaA	p.E4E	MUM1L1_ENST00000337685.2_Silent_p.E4E|MUM1L1_ENST00000372552.1_Silent_p.E4E	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	4						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGAGTCTGAGTATGTCCTAT	0.398																																					p.E4E		Atlas-SNP	.											.	MUM1L1	166	.	0			c.G12A						PASS	.						20	20	20					X																	105449437		1900	4117	6017	SO:0001819	synonymous_variant	139221	exon5			GTCTGAGTATGTC	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.12G>A	X.37:g.105449437G>A		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	261	136	0.521073	NM_152423	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	CCDS55469.1																																																																																			.	.	none		0.398	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		A	105449437	G	A	105449437	2	1	10	1	0	0	0	0	0	0	0	1	9986	1020	36	2		2	MUM1L1	23	105449437	Silent	SNP	G	TCGA-FF-8041-01A-11D-2210-10	4940015	105449437	49821123	438	2278										
LONRF3	79836	hgsc.bcm.edu	37	chrX	118109491	118109491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cgtcgcaactccggcacgagGgcaaccgactgtaccgcgag	13	15	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:118109491G>A	ENST00000371628.3	+	1	779	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	LONRF3_ENST00000304778.7_Missense_Mutation_p.G250S|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	250							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCGGCACGAGGGCAACCGACT	0.687																																					p.G250S		Atlas-SNP	.											.	LONRF3	138	.	0			c.G748A						PASS	.						16	11	13					X																	118109491		2177	4244	6421	SO:0001583	missense	79836	exon1			CACGAGGGCAACC	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.748G>A	X.37:g.118109491G>A	ENSP00000360690:p.Gly250Ser	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	147	24	0.163265	NM_001031855	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.473780|3.473780	0.63737|0.63737	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628	.|T;T;T	.|0.80566	.|-1.39;-1.39;-1.39	4.26|4.26	4.26|4.26	0.50523|0.50523	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87245|0.87245	0.6129|0.6129	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47762	.|0.9;0.866	.|B;P	.|0.51701	.|0.397;0.677	D|D	0.88596|0.88596	0.3146|0.3146	6|10	.|0.44086	.|T	.|0.13	-0.604|-0.604	15.2074|15.2074	0.73190|0.73190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|250;250	.|Q496Y0-2;Q496Y0	.|.;LONF3_HUMAN	E|S	56|250	.|ENSP00000360691:G250S;ENSP00000307732:G250S;ENSP00000360690:G250S	.|ENSP00000307732:G250S	G|G	+|+	2|1	0|0	LONRF3|LONRF3	117993519|117993519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.909000|5.909000	0.69923|0.69923	2.122000|2.122000	0.65172|0.65172	0.529000|0.529000	0.55759|0.55759	GGG|GGC	.	.	none		0.687	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		A	118109491	G	A	118109491	3	1	10	1	0	0	0	0	1	0	0	0	8896	1232	43	2	750	2	LONRF3	23	118109491	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	12660054	118109491	37161069	439	2279										
UBE2A	7319	hgsc.bcm.edu	37	chrX	118715490	118715490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gaacatttaaacttacaataGaattcactgaagaatatcca	4	7	1	3			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:118715490G>T	ENST00000371558.2	+	4	346	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	UBE2A_ENST00000346330.3_Intron|UBE2A_ENST00000371569.5_5'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	58					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.E58*(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						ACTTACAATAGAATTCACTGA	0.299								Rad6 pathway																													p.E58X		Atlas-SNP	.											.	UBE2A	43	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T						PASS	.						81	79	80					X																	118715490		2202	4298	6500	SO:0001587	stop_gained	7319	exon4			ACAATAGAATTCA	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.172G>T	X.37:g.118715490G>T	ENSP00000360613:p.Glu58*	Somatic	383	1	0.00261097		WXS	Illumina HiSeq	Phase_I	508	203	0.399606	NM_003336	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Nonsense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	38	7.024582	0.98010	.	.	ENSG00000077721	ENST00000371558	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.6356	17.9034	0.88911	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000360613:E58X	E	+	1	0	UBE2A	118599518	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.858000	0.99539	2.448000	0.82819	0.600000	0.82982	GAA	.	.	none		0.299	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		T	118715490	G	T	118715490	4	4	10	1	0	0	0	0	0	1	0	0	16841	943	33	4	186	4	UBE2A	23	118715490	Nonsense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	605999	118715490	36555070	440	2280										
SLITRK2	84631	hgsc.bcm.edu	37	chrX	144904787	144904787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gcagccatgctgacacccacGtccaaaggctgtcacctaca	8	16	1	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:144904787G>A	ENST00000370490.1	+	1	5099	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	SLITRK2_ENST00000447897.2_Missense_Mutation_p.V282I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V282I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V282I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V282I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	282					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGACACCCACGTCCAAAGGCT	0.562																																					p.V282I		Atlas-SNP	.											.	SLITRK2	221	.	0			c.G844A						PASS	.						79	72	74					X																	144904787		2203	4300	6503	SO:0001583	missense	84631	exon5			ACCCACGTCCAAA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.844G>A	X.37:g.144904787G>A	ENSP00000359521:p.Val282Ile	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	78	13	0.166667	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	4.111	0.018746	0.07959	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.67	-4.09	0.03951	.	0.813170	0.11203	N	0.588607	T	0.22322	0.0538	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	10	0.18710	T	0.47	-1.0238	14.6093	0.68504	0.7205:0.0:0.2795:0.0	.	282	Q9H156	SLIK2_HUMAN	I	282	ENSP00000334374:V282I;ENSP00000411681:V282I;ENSP00000359521:V282I;ENSP00000397015:V282I;ENSP00000407347:V282I;ENSP00000412010:V282I	ENSP00000334374:V282I	V	+	1	0	SLITRK2	144712479	0.000000	0.05858	0.001000	0.08648	0.837000	0.47467	-0.586000	0.05787	-1.074000	0.03132	-0.914000	0.02751	GTC	.	.	none		0.562	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144904787	G	A	144904787	3	1	10	1	0	0	0	0	1	0	0	0	14743	1145	40	1	846	1	SLITRK2	23	144904787	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	26189297	144904787	10365773	441	2281										
GABRQ	55879	hgsc.bcm.edu	37	chrX	151820129	151820129	+	Missense_Mutation	SNP	T	T	C													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	tgtccttgctggagtatgtcTacatcaactatcttttctac							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:151820129T>C	ENST00000370306.2	+	8	1062	c.1042T>C	c.(1042-1044)Tac>Cac	p.Y348H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	348					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAGTATGTCTACATCAACTA	0.512																																					p.Y348H		Atlas-SNP	.											.	GABRQ	131	.	0			c.T1042C						PASS	.						320	251	274					X																	151820129		2203	4300	6503	SO:0001583	missense	55879	exon8			TATGTCTACATCA	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1042T>C	X.37:g.151820129T>C	ENSP00000359329:p.Tyr348His	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	305	47	0.154098	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862737	0.51482	.	.	ENSG00000147402	ENST00000370306	D	0.85411	-1.98	5.88	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.153676	0.30969	N	0.008512	T	0.78685	0.4322	L	0.45137	1.4	0.36846	D	0.887645	B	0.28208	0.203	B	0.32583	0.148	T	0.72174	-0.4370	10	0.16420	T	0.52	.	9.1238	0.36803	0.0:0.0866:0.0:0.9133	.	348	Q9UN88	GBRT_HUMAN	H	348	ENSP00000359329:Y348H	ENSP00000359329:Y348H	Y	+	1	0	GABRQ	151570785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.032000	0.64140	0.837000	0.34925	0.486000	0.48141	TAC	.	.	none		0.512	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151820129	T	C	151820129	3	2	10	1	0	0	0	0	1	0	0	0	6175	1522	53	3	1072	3	GABRQ	23	151820129	Missense_Mutation	SNP	T	TCGA-FF-8041-01A-11D-2210-10	6915342	151820129	3450431	442	2282	44	2								
GABRQ	55879	hgsc.bcm.edu	37	chrX	151820139	151820139	+	Missense_Mutation	SNP	A	A	C													0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	ggagtatgtctacatcaactAtcttttctacagtcgaggac							TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:151820139A>C	ENST00000370306.2	+	8	1072	c.1052A>C	c.(1051-1053)tAt>tCt	p.Y351S		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	351					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACATCAACTATCTTTTCTAC	0.507																																					p.Y351S		Atlas-SNP	.											.	GABRQ	131	.	0			c.A1052C						PASS	.						282	225	244					X																	151820139		2203	4300	6503	SO:0001583	missense	55879	exon8			TCAACTATCTTTT	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1052A>C	X.37:g.151820139A>C	ENSP00000359329:p.Tyr351Ser	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	289	47	0.16263	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256619	0.80246	.	.	ENSG00000147402	ENST00000370306	D	0.87809	-2.3	5.88	4.68	0.58851	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.156200	0.30565	N	0.009347	D	0.91253	0.7243	M	0.62723	1.935	0.44337	D	0.997227	D	0.89917	1.0	D	0.83275	0.996	D	0.90553	0.4510	10	0.87932	D	0	.	9.5	0.39011	0.8398:0.0:0.0:0.1602	.	351	Q9UN88	GBRT_HUMAN	S	351	ENSP00000359329:Y351S	ENSP00000359329:Y351S	Y	+	2	0	GABRQ	151570795	1.000000	0.71417	0.740000	0.30986	0.936000	0.57629	7.438000	0.80431	0.786000	0.33708	0.486000	0.48141	TAT	.	.	none		0.507	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151820139	A	C	151820139	3	2	10	1	0	0	0	0	1	0	0	0	6175	449	16	5	1082	5	GABRQ	23	151820139	Missense_Mutation	SNP	A	TCGA-FF-8041-01A-11D-2210-10	10	151820139	3450421	443	2283	44	2								
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153037066	153037066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	gctatgggcccttgtgcccgCcgggggctgtggagctgctg	18	12	0	0			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:153037066C>T	ENST00000361971.5	+	14	2587	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	PLXNB3_ENST00000538282.1_Missense_Mutation_p.P435S|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P478S|PLXNB3_ENST00000538966.1_Missense_Mutation_p.P848S|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	825	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTGCCCGCCGGGGGCTGT	0.697																																					p.P848S		Atlas-SNP	.											.	PLXNB3	208	.	0			c.C2542T						PASS	.						19	20	20					X																	153037066		2183	4289	6472	SO:0001583	missense	5365	exon15			TGCCCGCCGGGGG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2473C>T	X.37:g.153037066C>T	ENSP00000355378:p.Pro825Ser	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	79	17	0.21519	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	9.903	1.207288	0.22205	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.67698	5.3;5.27;4.68;-0.28	5.11	5.11	0.69529	.	0.369273	0.25900	N	0.027580	T	0.55705	0.1937	L	0.37630	1.12	0.09310	N	0.99999	B;B;B;B	0.24132	0.004;0.098;0.071;0.001	B;B;B;B	0.28916	0.004;0.031;0.096;0.007	T	0.38457	-0.9660	10	0.07990	T	0.79	.	14.9334	0.70935	0.0:1.0:0.0:0.0	.	478;507;848;825	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	S	848;825;478;435	ENSP00000442736:P848S;ENSP00000355378:P825S;ENSP00000445569:P478S;ENSP00000441919:P435S	ENSP00000355378:P825S	P	+	1	0	PLXNB3	152690260	0.026000	0.19158	0.068000	0.19968	0.010000	0.07245	2.416000	0.44644	2.111000	0.64477	0.529000	0.55759	CCG	.	.	none		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153037066	C	T	153037066	3	4	10	1	0	0	0	0	1	0	0	0	12125	739	26	2	2641	2	PLXNB3	23	153037066	Missense_Mutation	SNP	C	TCGA-FF-8041-01A-11D-2210-10	1216927	153037066	2233494	444	2284										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153421999	153421999	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0523917995444191	23	1	0.641217201166181	1.46364795918367	0.591372912801484	3.51612333105218e-06	3.60402641432848e-05	0	cccgttatctatgtctttatGaaccggcaggtaagcaacac	8	11	2	1			TCGA-FF-8041-01A-11D-2210-10	TCGA-FF-8041-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fa676301-902f-473f-8313-5bff34ae549a	d3ef8780-62a6-4dbb-ab8f-3e7122632efc	g.chrX:153421999G>A	ENST00000369951.4	+	5	1035	c.975G>A	c.(973-975)atG>atA	p.M325I		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	325					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTCTTTATGAACCGGCAGG	0.522																																					p.M325I		Atlas-SNP	.											.	OPN1LW	87	.	0			c.G975A						PASS	.						160	162	161					X																	153421999		2193	4268	6461	SO:0001583	missense	5956	exon5			CTTTATGAACCGG	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.975G>A	X.37:g.153421999G>A	ENSP00000358967:p.Met325Ile	Somatic	409	0	0		WXS	Illumina HiSeq	Phase_I	464	71	0.153017	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940464	0.73557	.	.	ENSG00000102076	ENST00000369951	T	0.37752	1.18	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	M	0.89601	3.045	0.58432	D	0.999999	D	0.65815	0.995	D	0.77004	0.989	T	0.75909	-0.3151	10	0.87932	D	0	.	15.5112	0.75782	0.0:0.0:1.0:0.0	.	325	P04000	OPSR_HUMAN	I	325	ENSP00000358967:M325I	ENSP00000358967:M325I	M	+	3	0	OPN1LW	153075193	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.384000	0.66225	1.989000	0.58080	0.436000	0.28706	ATG	.	.	none		0.522	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		A	153421999	G	A	153421999	3	1	10	1	0	0	0	0	1	0	0	0	10877	1290	45	2	993	2	OPN1LW	23	153421999	Missense_Mutation	SNP	G	TCGA-FF-8041-01A-11D-2210-10	384933	153421999	1848561	445	2285										
GABRD	2563	hgsc.bcm.edu	37	chr1	1961467	1961467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcttctccctctctgctgccGgcgtcacgcaggagctggcc	11	17	4	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:1961467G>A	ENST00000378585.4	+	9	1188	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	369					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTGCTGCCGGCGTCACGCA	0.682																																					p.G369S		Atlas-SNP	.											GABRD,NS,malignant_melanoma,-1,1	GABRD	49	1	0			c.G1105A						scavenged	.						40	41	40					1																	1961467		2199	4289	6488	SO:0001583	missense	2563	exon9			GCTGCCGGCGTCA	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1105G>A	1.37:g.1961467G>A	ENSP00000367848:p.Gly369Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	112	2	0.0178571	NM_000815	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105146	0.77096	.	.	ENSG00000187730	ENST00000378585	D	0.84298	-1.83	3.82	3.82	0.43975	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.128751	0.51477	D	0.000083	D	0.84097	0.5397	L	0.39085	1.19	0.58432	D	0.999999	D	0.69078	0.997	P	0.55222	0.771	T	0.81833	-0.0751	10	0.27082	T	0.32	-20.7859	13.3928	0.60832	0.0:0.0:1.0:0.0	.	369	O14764	GBRD_HUMAN	S	369	ENSP00000367848:G369S	ENSP00000367848:G369S	G	+	1	0	GABRD	1951327	1.000000	0.71417	0.672000	0.29872	0.911000	0.54048	5.775000	0.68915	2.145000	0.66743	0.491000	0.48974	GGC	.	.	none		0.682	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		A	1961467	G	A	1961467	3	1	11	1	0	0	0	0	1	0	0	0	6169	1116	39	1	1139	1	GABRD	1	1961467	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10		1961467	247289154	1	2286										
PLCH2	9651	hgsc.bcm.edu	37	chr1	2419084	2419084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcccattgtgcaccatggcTacactctgacttccaagatc	7	14	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:2419084T>C	ENST00000419816.2	+	8	1436	c.1162T>C	c.(1162-1164)Tac>Cac	p.Y388H	PLCH2_ENST00000378488.3_Missense_Mutation_p.Y388H|PLCH2_ENST00000449969.1_Missense_Mutation_p.Y361H|PLCH2_ENST00000378486.3_Missense_Mutation_p.Y388H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCACCATGGCTACACTCTGAC	0.587																																					p.Y388H		Atlas-SNP	.											PLCH2_ENST00000378486,NS,carcinoma,-2,2	PLCH2	131	2	0			c.T1162C						scavenged	.						45	50	48					1																	2419084		2049	4188	6237	SO:0001583	missense	9651	exon8			CATGGCTACACTC	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1162T>C	1.37:g.2419084T>C	ENSP00000389803:p.Tyr388His	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	173	5	0.0289017	NM_014638	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	T	18.12	3.552236	0.65311	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.52754	0.65;0.65;0.65	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.17838	0.53	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;D;D;D	0.97110	1.0;0.972;0.999;0.972	T	0.56408	-0.7984	10	0.49607	T	0.09	.	13.4515	0.61174	0.0:0.0:0.0:1.0	.	235;176;361;388	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	H	361;388;388;235;176	ENSP00000397289:Y361H;ENSP00000367747:Y388H;ENSP00000367749:Y388H	ENSP00000278878:Y176H	Y	+	1	0	PLCH2	2408944	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.967000	0.70403	1.784000	0.52394	0.459000	0.35465	TAC	.	.	none		0.587	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		C	2419084	T	C	2419084	3	2	11	1	0	0	0	0	1	0	0	0	12038	1522	53	3	1192	3	PLCH2	1	2419084	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	457617	2419084	246831537	2	2287										
TMEM201	199953	hgsc.bcm.edu	37	chr1	9670573	9670573	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctccctccagattacttctCtcttctgtcggggagctgcc	8	16	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:9670573C>T	ENST00000340381.6	+	9	1484	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	TMEM201_ENST00000377376.4_Missense_Mutation_p.S468F	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	492	Ser-rich.				fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GATTACTTCTCTCTTCTGTCG	0.607																																					p.S492F		Atlas-SNP	.											.	TMEM201	63	.	0			c.C1475T						PASS	.						17	16	16					1																	9670573		692	1590	2282	SO:0001583	missense	199953	exon9			ACTTCTCTCTTCT		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1475C>T	1.37:g.9670573C>T	ENSP00000344503:p.Ser492Phe	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	39	14	0.358974	NM_001130924	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644780	0.67358	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	4.98	4.98	0.66077	.	0.141592	0.49305	D	0.000154	T	0.51143	0.1657	L	0.32530	0.975	0.38522	D	0.948745	P	0.48834	0.916	P	0.49953	0.627	T	0.56165	-0.8024	9	0.48119	T	0.1	-6.3899	13.771	0.63023	0.0:0.847:0.153:0.0	.	468	E9PBR6	.	F	468;492	.	ENSP00000344503:S492F	S	+	2	0	TMEM201	9593160	1.000000	0.71417	0.996000	0.52242	0.737000	0.42083	5.405000	0.66351	2.312000	0.78011	0.561000	0.74099	TCT	.	.	none		0.607	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		T	9670573	C	T	9670573	3	4	11	1	0	0	0	0	1	0	0	0	16123	913	32	2	1528	2	TMEM201	1	9670573	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7251489	9670573	239580048	3	2288										
KIF1B	23095	hgsc.bcm.edu	37	chr1	10363223	10363223	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gattttgtttttccaaaggaCgcggattctgatagcgggga	13	6	1	1	rs151053483		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:10363223C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Silent_p.D660D|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.D660D|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ttCCAAAGGACGCGGATTCTG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		16904	0.0		0.001	False		,,,				2504	0.0				p.D660D		Atlas-SNP	.											.	KIF1B	242	.	0			c.C1980T						PASS	.	C	,	0,4402		0,0,2201	48	50	49		,1980	2.4	1	1	dbSNP_134	49	13,8587	9.1+/-34.3	0,13,4287	no	intron,coding-synonymous	KIF1B	NM_015074.3,NM_183416.3	,	0,13,6488	TT,TC,CC		0.1512,0.0,0.1	,	,660/1154	10363223	13,12989	2201	4300	6501	SO:0001627	intron_variant	23095	exon21			AAAGGACGCGGAT	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+5919C>T	1.37:g.10363223C>T		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	242	12	0.0495868	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																				C|0.999;T|0.001	0.001	strong		0.388	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10363223	C	T	10363223	1	4	11	0	1	0	0	0	0	0	0	0	8284	535	19	1		1	KIF1B	1	10363223	Intron	SNP	C	TCGA-FF-8042-01A-11D-2210-10	692650	10363223	238887398	4	2289										
AADACL3	126767	hgsc.bcm.edu	37	chr1	12785877	12785877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggatggtttccatggagtgCtcaggaccattgacatgagc	13	8	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:12785877C>T	ENST00000359318.5	+	4	1172	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	AADACL3_ENST00000332530.3_Missense_Mutation_p.L253F	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	323							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGGAGTGCTCAGGACCAT	0.483																																					p.L323F		Atlas-SNP	.											.	AADACL3	84	.	0			c.C967T						PASS	.						75	72	73					1																	12785877		1972	4161	6133	SO:0001583	missense	126767	exon4			GGAGTGCTCAGGA		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.967C>T	1.37:g.12785877C>T	ENSP00000352268:p.Leu323Phe	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	137	52	0.379562	NM_001103170	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467660	0.12402	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.12039	2.72;2.72	5.54	-1.38	0.09027	Alpha/beta hydrolase fold-3 (1);	0.292854	0.28533	N	0.015012	T	0.07324	0.0185	N	0.21448	0.665	0.19300	N	0.99998	B;B	0.24675	0.109;0.079	B;B	0.35312	0.2;0.099	T	0.28839	-1.0031	10	0.25751	T	0.34	-9.5847	0.808	0.01088	0.1831:0.207:0.3041:0.3058	.	323;253	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	F	253;323	ENSP00000333352:L253F;ENSP00000352268:L323F	ENSP00000333352:L253F	L	+	1	0	AADACL3	12708464	0.639000	0.27234	0.006000	0.13384	0.044000	0.14063	0.255000	0.18333	-0.211000	0.10124	-0.339000	0.08088	CTC	.	.	none		0.483	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		T	12785877	C	T	12785877	3	4	11	1	0	0	0	0	1	0	0	0	12	797	28	2	985	2	AADACL3	1	12785877	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2422654	12785877	236464744	5	2290										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919098	12919098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgcttcatctggagccattGaaagcattgctggaagggct	12	9	2	1	rs2281065		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:12919098G>A	ENST00000240189.2	+	2	321	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	78					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCCATTGAAAGCATTGC	0.567																																					p.L78L		Atlas-SNP	.											PRAMEF2,colon,carcinoma,0,1	PRAMEF2	85	1	0			c.G234A						scavenged	.						168	179	175					1																	12919098		2201	4296	6497	SO:0001819	synonymous_variant	65122	exon2			GCCATTGAAAGCA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.234G>A	1.37:g.12919098G>A		Somatic	222	4	0.018018		WXS	Illumina HiSeq	Phase_I	210	5	0.0238095	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			G|1.000;|0.000	.	weak		0.567	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12919098	G	A	12919098	2	1	11	1	0	0	0	0	0	0	0	1	12435	1281	45	2		2	PRAMEF2	1	12919098	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	133221	12919098	236331523	6	2291										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921136	12921136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcaacctattagaagaggaCttgaagtgtctctcccagtt	10	9	1	3	rs368491327	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:12921136C>T	ENST00000240189.2	+	4	1014	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D309D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAGAGGACTTGAAGTGTC	0.498													.|||	12	0.00239617	0.0038	0.0058	5008	,	,		21997	0.001		0.001	False		,,,				2504	0.001				p.D309D		Atlas-SNP	.											PRAMEF2,pharynx,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C927T						scavenged	.						131	134	133					1																	12921136		2202	4297	6499	SO:0001819	synonymous_variant	65122	exon4			AGAGGACTTGAAG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.927C>T	1.37:g.12921136C>T		Somatic	214	3	0.0140187		WXS	Illumina HiSeq	Phase_I	197	3	0.0152284	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			.	.	none		0.498	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12921136	C	T	12921136	2	4	11	1	0	0	0	0	0	0	0	1	12435	564	20	2		2	PRAMEF2	1	12921136	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2038	12921136	236329485	7	2292										
PADI6	353238	hgsc.bcm.edu	37	chr1	17701957	17701957	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tatgggcccaacgaggatgcCcccgtgggcacagctgtgct	14	13	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:17701957C>T	ENST00000434762.2	+	0	380							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACGAGGATGCCCCCGTGGGCA	0.622																																					p.A110A		Atlas-SNP	.											.	PADI6	51	.	0			c.C330T						PASS	.						49	50	50					1																	17701957		2064	4204	6268			353238	exon3			GGATGCCCCCGTG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17701957C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	60	4	0.0666667	NM_207421	Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37																																																																																				.	.	none		0.622	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		T	17701957	C	T	17701957	1	4	11	0	1	0	0	0	0	0	0	0	11381	610	22	2		2	PADI6	1	17701957	RNA	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4780821	17701957	231548664	8	2293										
ZNF436	80818	hgsc.bcm.edu	37	chr1	23689381	23689381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacattcataacatttatagGgtctgtctccagtgtgggtc	9	9	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:23689381G>T	ENST00000314011.4	-	4	630	c.494C>A	c.(493-495)cCc>cAc	p.P165H	ZNF436_ENST00000374608.3_Missense_Mutation_p.P165H	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACATTTATAGGGTCTGTCTCC	0.453																																					p.P165H		Atlas-SNP	.											.	ZNF436	49	.	0			c.C494A						PASS	.						94	88	90					1																	23689381		2203	4300	6503	SO:0001583	missense	80818	exon4			TTATAGGGTCTGT	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.494C>A	1.37:g.23689381G>T	ENSP00000313582:p.Pro165His	Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	222	91	0.40991	NM_001077195	Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103046	0.76983	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.29397	1.57;1.57;1.57	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000018	T	0.61464	0.2349	M	0.82716	2.605	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.64262	-0.6449	10	0.87932	D	0	-22.7732	18.0604	0.89375	0.0:0.0:1.0:0.0	.	165	Q9C0F3	ZN436_HUMAN	H	165	ENSP00000313582:P165H;ENSP00000363737:P165H;ENSP00000363736:P165H	ENSP00000313582:P165H	P	-	2	0	ZNF436	23561968	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.871000	0.87180	2.854000	0.98071	0.655000	0.94253	CCC	.	.	none		0.453	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		T	23689381	G	T	23689381	3	4	11	1	0	0	0	0	1	0	0	0	17906	1232	43	4	922	4	ZNF436	1	23689381	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	5987424	23689381	225561240	9	2294										
ZCCHC17	51538	hgsc.bcm.edu	37	chr1	31821801	31821801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcctgaccctacaaggaatCcttctagaaaaagaaagaag	8	9	1	4	rs377290811		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:31821801C>T	ENST00000373714.1	+	7	805	c.544C>T	c.(544-546)Cct>Tct	p.P182S	ZCCHC17_ENST00000344147.5_Missense_Mutation_p.P182S|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.P174S|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.P184S|RP11-266K22.2_ENST00000430143.1_RNA	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	182						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P182S(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TACAAGGAATCCTTCTAGAAA	0.393																																					p.P182S		Atlas-SNP	.											ZCCHC17,face,carcinoma,0,1	ZCCHC17	30	1	1	Substitution - Missense(1)	skin(1)	c.C544T						scavenged	.						84	84	84					1																	31821801		2203	4300	6503	SO:0001583	missense	51538	exon7			AGGAATCCTTCTA	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.544C>T	1.37:g.31821801C>T	ENSP00000362819:p.Pro182Ser	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	187	3	0.0160428	NM_016505	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.363215	0.01235	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	4.84	3.62	0.41486	.	0.477745	0.22608	N	0.057875	T	0.07908	0.0198	N	0.01048	-1.04	0.23550	N	0.997436	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36578	-0.9742	9	0.02654	T	1	.	7.3041	0.26436	0.0:0.1014:0.0:0.8986	.	184;174;182	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	S	182;182;174;184	.	ENSP00000343557:P182S	P	+	1	0	ZCCHC17	31594388	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	1.952000	0.40343	0.975000	0.38392	-0.474000	0.04947	CCT	.	.	none		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		T	31821801	C	T	31821801	3	4	11	1	0	0	0	0	1	0	0	0	17582	855	30	2	566	2	ZCCHC17	1	31821801	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	8132420	31821801	217428820	10	2295										
ZMYM4	9202	hgsc.bcm.edu	37	chr1	35847205	35847205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	actttgcagtgatgcctgctTctctaagtttcgttctgcta	8	10	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:35847205T>G	ENST00000314607.6	+	9	1495	c.1415T>G	c.(1414-1416)tTc>tGc	p.F472C	ZMYM4_ENST00000373297.2_Missense_Mutation_p.F472C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	472					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGCCTGCTTCTCTAAGTTT	0.418																																					p.F472C		Atlas-SNP	.											ZMYM4,NS,carcinoma,-1,1	ZMYM4	143	1	0			c.T1415G						scavenged	.						199	185	190					1																	35847205		2203	4300	6503	SO:0001583	missense	9202	exon9			CCTGCTTCTCTAA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1415T>G	1.37:g.35847205T>G	ENSP00000322915:p.Phe472Cys	Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	128	33	0.257812	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090933	0.76756	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.49720	0.77;1.11	5.01	5.01	0.66863	TRASH (1);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.77313	2.365	0.24658	N	0.993483	D	0.89917	1.0	D	0.91635	0.999	T	0.65051	-0.6262	10	0.72032	D	0.01	-2.4899	15.0118	0.71555	0.0:0.0:0.0:1.0	.	472	Q5VZL5	ZMYM4_HUMAN	C	472	ENSP00000322915:F472C;ENSP00000362394:F472C	ENSP00000322915:F472C	F	+	2	0	ZMYM4	35619792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.608000	0.82898	2.012000	0.59069	0.482000	0.46254	TTC	.	.	none		0.418	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		G	35847205	T	G	35847205	3	3	11	1	0	0	0	0	1	0	0	0	17699	1783	62	5	1449	5	ZMYM4	1	35847205	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	4025404	35847205	213403416	11	2296										
ZMYM4	9202	hgsc.bcm.edu	37	chr1	35847247	35847247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caacctcaccatgaactgttGtgagaactgtgggggttact	11	9	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:35847247G>T	ENST00000314607.6	+	9	1537	c.1457G>T	c.(1456-1458)tGt>tTt	p.C486F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.C486F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	486					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGAACTGTTGTGAGAACTGT	0.438																																					p.C486F		Atlas-SNP	.											.	ZMYM4	143	.	0			c.G1457T						PASS	.						205	187	193					1																	35847247		2203	4300	6503	SO:0001583	missense	9202	exon9			ACTGTTGTGAGAA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1457G>T	1.37:g.35847247G>T	ENSP00000322915:p.Cys486Phe	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	163	33	0.202454	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.156265|4.156265	0.78114|0.78114	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.80653|.	-1.4;1.15|.	5.01|5.01	5.01|5.01	0.66863|0.66863	TRASH (1);Zinc finger, MYM-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75273|0.75273	0.3827|0.3827	M|M	0.72894|0.72894	2.215|2.215	0.36207|0.36207	D|D	0.851107|0.851107	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.79725|0.79725	-0.1683|-0.1683	10|5	0.87932|.	D|.	0|.	-1.461|-1.461	18.6737|18.6737	0.91521|0.91521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	486|.	Q5VZL5|.	ZMYM4_HUMAN|.	F|F	486|234	ENSP00000322915:C486F;ENSP00000362394:C486F|.	ENSP00000322915:C486F|.	C|L	+|+	2|3	0|2	ZMYM4|ZMYM4	35619834|35619834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.361000|9.361000	0.97122|0.97122	2.487000|2.487000	0.83934|0.83934	0.591000|0.591000	0.81541|0.81541	TGT|TTG	.	.	none		0.438	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		T	35847247	G	T	35847247	3	4	11	1	0	0	0	0	1	0	0	0	17699	1377	48	4	1491	4	ZMYM4	1	35847247	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	42	35847247	213403374	12	2297										
ZMPSTE24	10269	hgsc.bcm.edu	37	chr1	40751632	40751632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtaaaaatgaggaggtactCgctgtactaggccatgaact	11	7	0	2	rs116284141	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:40751632C>T	ENST00000372759.3	+	8	1155	c.990C>T	c.(988-990)ctC>ctT	p.L330L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	330					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGGAGGTACTCGCTGTACTAG	0.328													C|||	29	0.00579073	0.0204	0.0029	5008	,	,		19667	0.0		0.0	False		,,,				2504	0.0				p.L330L		Atlas-SNP	.											ZMPSTE24,NS,carcinoma,+2,1	ZMPSTE24	50	1	0			c.C990T						scavenged	.	C		71,4335	65.3+/-102.7	0,71,2132	106	104	105		990	-2.1	1	1	dbSNP_132	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZMPSTE24	NM_005857.3		0,72,6431	TT,TC,CC		0.0116,1.6114,0.5536		330/476	40751632	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	10269	exon8			GGTACTCGCTGTA	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.990C>T	1.37:g.40751632C>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	163	4	0.0245399	NM_005857	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	CCDS449.1																																																																																			C|0.995;T|0.005	0.005	strong		0.328	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			T	40751632	C	T	40751632	2	4	11	1	0	0	0	0	0	0	0	1	17695	871	31	1		1	ZMPSTE24	1	40751632	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4904385	40751632	208498989	13	2298										
ZNF691	51058	hgsc.bcm.edu	37	chr1	43317125	43317125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcaagatcacctaggcaagCggccataccgctgtgacatc	10	13	1	2	rs201360083		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:43317125C>T	ENST00000372506.1	+	4	836	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ZNF691_ENST00000372504.1_Missense_Mutation_p.R188W|ZNF691_ENST00000372507.1_Missense_Mutation_p.R166W|ZNF691_ENST00000397044.3_Missense_Mutation_p.R197W|ZNF691_ENST00000372502.1_Missense_Mutation_p.R188W|ZNF691_ENST00000372508.3_Missense_Mutation_p.R166W	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	197						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTAGGCAAGCGGCCATACCG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18616	0.0		0.0	False		,,,				2504	0.0				p.R197W		Atlas-SNP	.											.	ZNF691	30	.	0			c.C589T						PASS	.						65	58	60					1																	43317125		2203	4300	6503	SO:0001583	missense	51058	exon4			GGCAAGCGGCCAT		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.496C>T	1.37:g.43317125C>T	ENSP00000361584:p.Arg166Trp	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_001242739	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	CCDS476.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.52	3.641667	0.67244	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372503;ENST00000372502	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.31	2.19	0.27852	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000110	T	0.26955	0.0660	M	0.90252	3.1	0.35155	D	0.770112	B;B	0.30973	0.195;0.302	B;B	0.25759	0.039;0.063	T	0.37361	-0.9709	10	0.87932	D	0	-11.7827	6.4447	0.21869	0.423:0.4921:0.0:0.0849	.	197;197	B4DJR7;Q5VV52	.;ZN691_HUMAN	W	166;166;166;197;188;197;188	ENSP00000361586:R166W;ENSP00000361585:R166W;ENSP00000361584:R166W;ENSP00000380237:R197W;ENSP00000361582:R188W;ENSP00000361580:R188W	ENSP00000361580:R188W	R	+	1	2	ZNF691	43089712	0.991000	0.36638	1.000000	0.80357	0.976000	0.68499	2.198000	0.42705	0.887000	0.36136	0.561000	0.74099	CGG	C|1.000;T|0.000	0.000	strong		0.592	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		T	43317125	C	T	43317125	3	4	11	1	0	0	0	0	1	0	0	0	18093	759	27	1	498	1	ZNF691	1	43317125	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2565493	43317125	205933496	14	2299										
RNF220	55182	hgsc.bcm.edu	37	chr1	44878186	44878186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagtcagcctttacgccggcCaagcgacttaagaactgcca	9	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:44878186C>T	ENST00000355387.2	+	2	867	c.417C>T	c.(415-417)gcC>gcT	p.A139A	RNF220_ENST00000361799.2_Silent_p.A139A|RNF220_ENST00000372247.2_Silent_p.A139A			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTACGCCGGCCAAGCGACTTA	0.552																																					p.A139A		Atlas-SNP	.											RNF220,NS,carcinoma,+2,2	RNF220	56	2	0			c.C417T						scavenged	.						84	84	84					1																	44878186		2203	4300	6503	SO:0001819	synonymous_variant	55182	exon2			GCCGGCCAAGCGA	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.417C>T	1.37:g.44878186C>T		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	195	2	0.0102564	NM_018150	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	CCDS510.1																																																																																			.	.	none		0.552	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		T	44878186	C	T	44878186	2	4	11	1	0	0	0	0	0	0	0	1	13483	581	21	2		2	RNF220	1	44878186	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1561061	44878186	204372435	15	2300										
HPDL	84842	hgsc.bcm.edu	37	chr1	45793485	45793485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agccctgcaggcccagccggGcagcattgtccccactcttg	11	17	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:45793485G>A	ENST00000334815.3	+	1	941	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	222					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCAGCCGGGCAGCATTGTC	0.662																																					p.G222D		Atlas-SNP	.											.	HPDL	14	.	0			c.G665A						PASS	.						49	53	52					1																	45793485		2203	4300	6503	SO:0001583	missense	84842	exon1			AGCCGGGCAGCAT	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.665G>A	1.37:g.45793485G>A	ENSP00000335060:p.Gly222Asp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	79	31	0.392405	NM_032756	B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	CCDS519.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651635	0.00785	.	.	ENSG00000186603	ENST00000334815	T	0.66099	-0.19	5.31	2.43	0.29744	.	0.671557	0.15482	N	0.260037	T	0.57227	0.2039	M	0.76938	2.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52117	-0.8618	10	0.41790	T	0.15	-1.1847	4.4552	0.11640	0.3094:0.0:0.5451:0.1454	.	222	Q96IR7	HPDL_HUMAN	D	222	ENSP00000335060:G222D	ENSP00000335060:G222D	G	+	2	0	HPDL	45566072	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.435000	0.21510	0.378000	0.24764	-0.258000	0.10820	GGC	.	.	none		0.662	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		A	45793485	G	A	45793485	3	1	11	1	0	0	0	0	1	0	0	0	7333	1203	42	2	667	2	HPDL	1	45793485	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	915299	45793485	203457136	16	2301										
SLC1A7	6512	hgsc.bcm.edu	37	chr1	53569135	53569135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagggcgaagttctgcacatGggagccattctcctcctgga	12	12	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:53569135G>T	ENST00000371494.4	-	5	707	c.580C>A	c.(580-582)Cat>Aat	p.H194N		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	194					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TTCTGCACATGGGAGCCATTC	0.627																																					p.H194N	NSCLC(128;80 1811 21245 38490 51715)	Atlas-SNP	.											.	SLC1A7	65	.	0			c.C580A						PASS	.						41	46	44					1																	53569135		2203	4300	6503	SO:0001583	missense	6512	exon5			GCACATGGGAGCC	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.580C>A	1.37:g.53569135G>T	ENSP00000360549:p.His194Asn	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	1.852	-0.464809	0.04476	.	.	ENSG00000162383	ENST00000371494	T	0.47528	0.84	4.82	3.84	0.44239	.	0.682012	0.15341	N	0.267509	T	0.21186	0.0510	N	0.01874	-0.695	0.22511	N	0.999034	B	0.02656	0.0	B	0.01281	0.0	T	0.07366	-1.0776	10	0.16896	T	0.51	-16.8183	12.8002	0.57582	0.0:0.0:0.7557:0.2443	.	194	O00341	EAA5_HUMAN	N	194	ENSP00000360549:H194N	ENSP00000360549:H194N	H	-	1	0	SLC1A7	53341723	0.170000	0.23016	0.077000	0.20336	0.232000	0.25224	3.331000	0.52075	2.346000	0.79739	0.563000	0.77884	CAT	.	.	none		0.627	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53569135	G	T	53569135	3	4	11	1	0	0	0	0	1	0	0	0	14437	1348	47	4	1130	4	SLC1A7	1	53569135	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	7775650	53569135	195681486	17	2302										
C8A	731	hgsc.bcm.edu	37	chr1	57378134	57378134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggggcctctggaggccaagcGccagaacctgcgccgcgcct	15	16	1	1	rs373473282		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:57378134G>T	ENST00000361249.3	+	10	1535	c.1439G>T	c.(1438-1440)cGc>cTc	p.R480L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	480	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R480L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGCCAAGCGCCAGAACCTG	0.622																																					p.R480L		Atlas-SNP	.											C8A,NS,carcinoma,0,1	C8A	103	1	1	Substitution - Missense(1)	lung(1)	c.G1439T						scavenged	.						59	62	61					1																	57378134		2203	4300	6503	SO:0001583	missense	731	exon10			CCAAGCGCCAGAA	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1439G>T	1.37:g.57378134G>T	ENSP00000354458:p.Arg480Leu	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595302	0.28445	.	.	ENSG00000157131	ENST00000361249	D	0.85258	-1.96	5.73	3.86	0.44501	Membrane attack complex component/perforin (MACPF) domain (3);	0.156847	0.53938	D	0.000057	D	0.82398	0.5028	M	0.73598	2.24	0.22226	N	0.999271	B	0.22276	0.067	B	0.26416	0.069	T	0.71866	-0.4463	10	0.39692	T	0.17	-1.8718	6.362	0.21433	0.0707:0.1315:0.6612:0.1366	.	480	P07357	CO8A_HUMAN	L	480	ENSP00000354458:R480L	ENSP00000354458:R480L	R	+	2	0	C8A	57150722	0.003000	0.15002	0.957000	0.39632	0.921000	0.55340	0.941000	0.29005	0.776000	0.33473	0.655000	0.94253	CGC	.	.	none		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57378134	G	T	57378134	3	4	11	1	0	0	0	0	1	0	0	0	2416	1087	38	4	1477	4	C8A	1	57378134	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	3808999	57378134	191872487	18	2303										
RBMXL1	494115	hgsc.bcm.edu	37	chr1	89448539	89448539	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggctgcttgagtaactgtctCgacttccaccatatccatca	7	13	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:89448539C>G	ENST00000321792.5	-	2	1398	c.971G>C	c.(970-972)cGa>cCa	p.R324P	RBMXL1_ENST00000399794.2_Missense_Mutation_p.R324P|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	324	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTAACTGTCTCGACTTCCACC	0.517																																					p.R324P		Atlas-SNP	.											CCBL2,NS,carcinoma,-1,1	.	.	1	0			c.G971C						scavenged	.						185	184	184					1																	89448539		2203	4300	6503	SO:0001583	missense	494115	exon3			CTGTCTCGACTTC	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.971G>C	1.37:g.89448539C>G	ENSP00000318415:p.Arg324Pro	Somatic	373	8	0.0214477		WXS	Illumina HiSeq	Phase_I	232	6	0.0258621	NM_001162536		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844738	0.51164	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77358	-1.09;-1.09	1.89	0.895	0.19247	.	0.070349	0.64402	D	0.000016	T	0.62925	0.2468	M	0.65498	2.005	0.33162	D	0.547093	D	0.55172	0.97	P	0.46796	0.527	T	0.60667	-0.7218	10	0.52906	T	0.07	-3.2327	6.12	0.20148	0.0:0.8158:0.0:0.1842	.	324	Q96E39	RBMXL_HUMAN	P	324	ENSP00000318415:R324P;ENSP00000446099:R324P	ENSP00000318415:R324P	R	-	2	0	RBMXL1	89221127	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	4.995000	0.63908	0.128000	0.18479	0.306000	0.20318	CGA	.	.	none		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448539	C	G	89448539	3	3	11	1	0	0	0	0	1	0	0	0	13153	884	31	4	205	4	RBMXL1	1	89448539	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	32070405	89448539	159802082	19	2304										
BARHL2	343472	hgsc.bcm.edu	37	chr1	91180266	91180266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttcttggctctcacaggggGactctcacggctactcgtaa	10	13	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:91180266G>C	ENST00000370445.4	-	2	714	c.673C>G	c.(673-675)Ccc>Gcc	p.P225A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	225					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACAGGGGGACTCTCACGG	0.542																																					p.P225A	GBM(199;3561 4100 22440)	Atlas-SNP	.											BARHL2,NS,carcinoma,+1,1	BARHL2	62	1	0			c.C673G						PASS	.						155	154	154					1																	91180266		2203	4300	6503	SO:0001583	missense	343472	exon2			CAGGGGGACTCTC	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.673C>G	1.37:g.91180266G>C	ENSP00000359474:p.Pro225Ala	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	133	48	0.360902	NM_020063	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592727	0.66219	.	.	ENSG00000143032	ENST00000370445	D	0.95656	-3.77	5.1	5.1	0.69264	Homeodomain-related (1);Homeodomain-like (1);	0.059845	0.64402	D	0.000002	D	0.94604	0.8261	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.92857	0.6302	10	0.18276	T	0.48	.	17.1014	0.86651	0.0:0.0:1.0:0.0	.	225	Q9NY43	BARH2_HUMAN	A	225	ENSP00000359474:P225A	ENSP00000359474:P225A	P	-	1	0	BARHL2	90952854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.561000	0.98142	2.348000	0.79779	0.655000	0.94253	CCC	.	.	none		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			C	91180266	G	C	91180266	3	2	11	1	0	0	0	0	1	0	0	0	1314	1174	41	4	498	4	BARHL2	1	91180266	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1731727	91180266	158070355	20	2305										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103449740	103449740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctggtaatcctggaactccaAgttttccctacagttaaaat	6	10	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:103449740A>G	ENST00000370096.3	-	31	2822	c.2510T>C	c.(2509-2511)cTt>cCt	p.L837P	COL11A1_ENST00000512756.1_Missense_Mutation_p.L721P|COL11A1_ENST00000358392.2_Missense_Mutation_p.L849P|COL11A1_ENST00000353414.4_Missense_Mutation_p.L798P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	837	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGAACTCCAAGTTTTCCCTA	0.249																																					p.L849P		Atlas-SNP	.											COL11A1_ENST00000370096,right_lower_lobe,carcinoma,+1,4	COL11A1	972	4	0			c.T2546C						PASS	.						62	62	62					1																	103449740		2203	4297	6500	SO:0001583	missense	1301	exon31			ACTCCAAGTTTTC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2510T>C	1.37:g.103449740A>G	ENSP00000359114:p.Leu837Pro	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	12	6	0.5	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613637	0.66672	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	N	0.00303	-1.675	0.80722	D	1	P;D;D;D	0.89917	0.575;0.999;1.0;0.998	P;D;D;D	0.91635	0.563;0.998;0.999;0.995	D	0.91528	0.5240	10	0.41790	T	0.15	.	15.224	0.73336	1.0:0.0:0.0:0.0	.	721;798;849;837	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	P	837;849;798;721	ENSP00000359114:L837P;ENSP00000351163:L849P;ENSP00000302551:L798P;ENSP00000426533:L721P	ENSP00000302551:L798P	L	-	2	0	COL11A1	103222328	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.417000	0.90247	2.171000	0.68590	0.528000	0.53228	CTT	.	.	none		0.249	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103449740	A	G	103449740	3	3	11	1	0	0	0	0	1	0	0	0	3667	72	3	3	3058	3	COL11A1	1	103449740	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	12269474	103449740	145800881	21	2306										
AMY2B	280	hgsc.bcm.edu	37	chr1	104116508	104116508	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aattttggacaaactgcataAtctaaacagtaactggttcc	6	8	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:104116508A>T	ENST00000361355.4	+	6	1308	c.692A>T	c.(691-693)aAt>aTt	p.N231I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	231					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.N231T(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAACTGCATAATCTAAACAGT	0.373																																					p.N231I		Atlas-SNP	.											AMY2B,rectum,carcinoma,0,1	AMY2B	80	1	1	Substitution - Missense(1)	large_intestine(1)	c.A692T						PASS	.						173	172	172					1																	104116508		2203	4297	6500	SO:0001583	missense	280	exon6			TGCATAATCTAAA	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.692A>T	1.37:g.104116508A>T	ENSP00000354610:p.Asn231Ile	Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	321	115	0.358255	NM_020978	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497641	0.64186	.	.	ENSG00000240038	ENST00000361355	D	0.98400	-4.91	4.47	4.47	0.54385	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.109676	0.64402	D	0.000011	D	0.98548	0.9515	H	0.96604	3.85	0.80722	D	1	P	0.41131	0.739	P	0.45577	0.486	D	0.99891	1.1134	10	0.87932	D	0	.	13.7962	0.63173	1.0:0.0:0.0:0.0	.	231	P19961	AMY2B_HUMAN	I	231	ENSP00000354610:N231I	ENSP00000354610:N231I	N	+	2	0	AMY2B	103918031	1.000000	0.71417	0.996000	0.52242	0.337000	0.28794	6.148000	0.71788	1.662000	0.50781	0.451000	0.29950	AAT	.	.	none		0.373	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		T	104116508	A	T	104116508	3	4	11	1	0	0	0	0	1	0	0	0	595	101	4	5	706	5	AMY2B	1	104116508	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	666768	104116508	145134113	22	2307										
VAV3	10451	hgsc.bcm.edu	37	chr1	108299925	108299925	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcagatttgccttctcagtCggatcagtggtatgtttgac	10	8	3	2	rs17541972	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:108299925C>T	ENST00000370056.4	-	11	1318	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.P348P|VAV3_ENST00000371846.4_Silent_p.P283P	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	348	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTTCTCAGTCGGATCAGTGG	0.343													c|||	9	0.00179712	0.0015	0.0029	5008	,	,		16113	0.0		0.005	False		,,,				2504	0.0				p.P348P		Atlas-SNP	.											VAV3,NS,carcinoma,0,1	VAV3	176	1	0			c.G1044A						scavenged	.			2,4404	4.2+/-10.8	0,2,2201	155	147	149		1044	-9.7	0	1	dbSNP_123	149	63,8537	39.3+/-95.6	0,63,4237	no	coding-synonymous	VAV3	NM_006113.4		0,65,6438	TT,TC,CC		0.7326,0.0454,0.4998		348/848	108299925	65,12941	2203	4300	6503	SO:0001819	synonymous_variant	10451	exon11			CTCAGTCGGATCA	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1044G>A	1.37:g.108299925C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	158	4	0.0253165	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	c	0.068	-1.208785	0.01568	4.54E-4	0.007326	ENSG00000134215	ENST00000490388	.	.	.	5.83	-9.66	0.00534	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.32619	N	0.523584	.	.	.	.	.	.	T	0.06215	-1.0839	4	.	.	.	.	7.6701	0.28453	0.5888:0.0779:0.258:0.0752	rs17541972;rs17541972	.	.	.	Q	343	.	.	R	-	2	0	VAV3	108101448	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.548000	0.02184	-1.828000	0.01202	-1.119000	0.02030	CGA	C|0.996;T|0.004	0.004	strong		0.343	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		T	108299925	C	T	108299925	2	4	11	1	0	0	0	0	0	0	0	1	17130	871	31	1		1	VAV3	1	108299925	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4183417	108299925	140950696	23	2308										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957202	111957202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccatagatgggaacaaagcGgttgtcaaaagctagaggag	13	6	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:111957202G>T	ENST00000369732.3	-	11	1976	c.1921C>A	c.(1921-1923)Cgc>Agc	p.R641S		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	641					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGAACAAAGCGGTTGTCAAAA	0.468																																					p.R641S		Atlas-SNP	.											OVGP1_ENST00000369728,NS,adenocarcinoma,0,2	OVGP1	177	2	0			c.C1921A						scavenged	.						81	81	81					1																	111957202		2203	4300	6503	SO:0001583	missense	5016	exon11			CAAAGCGGTTGTC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1921C>A	1.37:g.111957202G>T	ENSP00000358747:p.Arg641Ser	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582714	0.28180	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05319	3.46	4.55	-3.31	0.04988	.	20.891500	0.00166	U	0.000006	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47774	-0.9091	10	0.66056	D	0.02	.	2.5271	0.04694	0.1822:0.418:0.2582:0.1416	.	641;705	Q12889;Q59HH5	OVGP1_HUMAN;.	S	641;705;449	ENSP00000358747:R641S	ENSP00000358743:R705S	R	-	1	0	OVGP1	111758725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.065000	0.14466	-0.334000	0.08463	-0.283000	0.09986	CGC	.	.	none		0.468	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957202	G	T	111957202	3	4	11	1	0	0	0	0	1	0	0	0	11325	1116	39	4	119	4	OVGP1	1	111957202	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	3657277	111957202	137293419	24	2309										
CSDE1	7812	hgsc.bcm.edu	37	chr1	115276720	115276720	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttttacaacatcacctctttCaataaagccaaatgcctcct	2	13	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:115276720C>A	ENST00000358528.4	-	8	1027	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E170*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E201*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.E247*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E170*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E71*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E216*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	201	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCTCTTTCAATAAAGCCA	0.323																																					p.E247X		Atlas-SNP	.											.	CSDE1	145	.	0			c.G739T						PASS	.						44	44	44					1																	115276720		2203	4300	6503	SO:0001587	stop_gained	7812	exon9			CTCTTTCAATAAA		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.601G>T	1.37:g.115276720C>A	ENSP00000351329:p.Glu201*	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_001242891	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	40	8.400554	0.98794	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.445	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	170;247;201;170;71;216;201;71	.	ENSP00000261443:E170X	E	-	1	0	CSDE1	115078243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAA	.	.	none		0.323	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		A	115276720	C	A	115276720	4	1	11	1	0	0	0	0	0	1	0	0	3929	835	29	4	1847	4	CSDE1	1	115276720	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3319518	115276720	133973901	25	2310										
SYCP1	6847	hgsc.bcm.edu	37	chr1	115487569	115487569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	taagcgatgtcaacataaaaTagctgaaatggtagcactta	8	6	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:115487569T>G	ENST00000369522.3	+	25	2360	c.2120T>G	c.(2119-2121)aTa>aGa	p.I707R	SYCP1_ENST00000369518.1_Missense_Mutation_p.I707R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	707					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACATAAAATAGCTGAAATG	0.264																																					p.I707R		Atlas-SNP	.											.	SYCP1	149	.	0			c.T2120G						PASS	.						39	40	40					1																	115487569		2200	4280	6480	SO:0001583	missense	6847	exon25			ATAAAATAGCTGA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2120T>G	1.37:g.115487569T>G	ENSP00000358535:p.Ile707Arg	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	120	42	0.35	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043678	0.75732	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56611	0.45;0.45;0.45	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.71477	-0.4581	10	0.72032	D	0.01	-13.3514	14.2117	0.65769	0.0:0.0:0.0:1.0	.	707;707	B7ZLS9;Q15431	.;SYCP1_HUMAN	R	707	ENSP00000358535:I707R;ENSP00000410011:I707R;ENSP00000358531:I707R	ENSP00000358531:I707R	I	+	2	0	SYCP1	115289092	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.517000	0.67061	1.840000	0.53500	0.528000	0.53228	ATA	.	.	none		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		G	115487569	T	G	115487569	3	3	11	1	0	0	0	0	1	0	0	0	15428	1406	49	5	2214	5	SYCP1	1	115487569	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	210849	115487569	133763052	26	2311										
TSPAN2	10100	hgsc.bcm.edu	37	chr1	115604799	115604799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccgcatggctccgcagcacCcgaagaaccccacggccatc	9	20	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:115604799C>T	ENST00000369516.2	-	3	258	c.227G>A	c.(226-228)gGg>gAg	p.G76E	TSPAN2_ENST00000369515.2_Missense_Mutation_p.G76E|TSPAN2_ENST00000369514.2_Missense_Mutation_p.G76E	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	76					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCGCAGCACCCGAAGAACCC	0.632																																					p.G76E		Atlas-SNP	.											TSPAN2,NS,carcinoma,+1,1	TSPAN2	37	1	0			c.G227A						scavenged	.						54	47	49					1																	115604799		2203	4297	6500	SO:0001583	missense	10100	exon3			CAGCACCCGAAGA	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.227G>A	1.37:g.115604799C>T	ENSP00000358529:p.Gly76Glu	Somatic	308	0	0		WXS	Illumina HiSeq	Phase_I	275	4	0.0145455	NM_005725	D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	CCDS881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119025	0.94385	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.56	5.56	0.83823	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	18.2921	0.90134	0.0:1.0:0.0:0.0	.	76	O60636	TSN2_HUMAN	E	76;76;70;76	ENSP00000358529:G76E;ENSP00000358528:G76E;ENSP00000415256:G70E;ENSP00000358527:G76E	ENSP00000358527:G76E	G	-	2	0	TSPAN2	115406322	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	6.961000	0.76042	2.619000	0.88677	0.462000	0.41574	GGG	.	.	none		0.632	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		T	115604799	C	T	115604799	3	4	11	1	0	0	0	0	1	0	0	0	16641	623	22	2	462	2	TSPAN2	1	115604799	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	117230	115604799	133645822	27	2312										
FAM46C	54855	hgsc.bcm.edu	37	chr1	118165588	118165588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaggtcctcactgaagttgTacctatccacggacgaggca	11	11	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:118165588T>C	ENST00000369448.3	+	2	345	c.98T>C	c.(97-99)gTa>gCa	p.V33A		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	33										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ACTGAAGTTGTACCTATCCAC	0.552			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																											p.V33A		Atlas-SNP	.		Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	FAM46C,pharynx,carcinoma,-1,1	FAM46C	25	1	0			c.T98C						scavenged	.						101	87	92					1																	118165588		2203	4300	6503	SO:0001583	missense	54855	exon2			AAGTTGTACCTAT	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.98T>C	1.37:g.118165588T>C	ENSP00000358458:p.Val33Ala	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	152	2	0.0131579	NM_017709	A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	CCDS896.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394398	0.62066	.	.	ENSG00000183508	ENST00000369448	T	0.27557	1.66	5.97	5.97	0.96955	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000010	T	0.32941	0.0846	M	0.84326	2.69	0.80722	D	1	P	0.40282	0.711	B	0.42062	0.374	T	0.34825	-0.9813	10	0.66056	D	0.02	-9.4992	15.6284	0.76882	0.0:0.0:0.0:1.0	.	33	Q5VWP2	FA46C_HUMAN	A	33	ENSP00000358458:V33A	ENSP00000358458:V33A	V	+	2	0	FAM46C	117967111	1.000000	0.71417	0.174000	0.22961	0.612000	0.37316	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTA	.	.	none		0.552	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		C	118165588	T	C	118165588	3	2	11	1	0	0	0	0	1	0	0	0	5567	1638	57	2	100	2	FAM46C	1	118165588	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2560789	118165588	131085033	28	2313										
NBPF15	284565	hgsc.bcm.edu	37	chr1	148594455	148594455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcttacaggactcactggatAgatgttattcgactccgtca	8	10	3	1	rs1043751	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:148594455A>G	ENST00000369187.3	+	19	2317	c.1828A>G	c.(1828-1830)Aga>Gga	p.R610G	NBPF15_ENST00000442702.2_Missense_Mutation_p.R610G	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	610	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCACTGGATAGATGTTATTC	0.453																																					p.R610G		Atlas-SNP	.											NBPF15,NS,carcinoma,-1,1	NBPF15	20	1	0			c.A1828G						scavenged	.						193	250	231					1																	148594455		2203	4299	6502	SO:0001583	missense	284565	exon19			CTGGATAGATGTT	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1828A>G	1.37:g.148594455A>G	ENSP00000358188:p.Arg610Gly	Somatic	319	32	0.100313		WXS	Illumina HiSeq	Phase_I	289	33	0.114187	NM_173638	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	3.941	-0.014253	0.07681	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.07908	3.15;3.15	0.502	-0.965	0.10323	DUF1220 (2);	.	.	.	.	T	0.02083	0.0065	L	0.45470	1.425	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.44544	-0.9321	8	0.38643	T	0.18	.	.	.	.	rs1043751;rs3183409	610	Q8N660	NBPFF_HUMAN	G	610	ENSP00000416864:R610G;ENSP00000358188:R610G	ENSP00000358188:R610G	R	+	1	2	NBPF15	146861079	0.958000	0.32768	0.000000	0.03702	0.002000	0.02628	-0.245000	0.08890	-0.355000	0.08199	0.310000	0.20435	AGA	A|0.996;G|0.004	0.004	strong		0.453	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		G	148594455	A	G	148594455	3	3	11	1	0	0	0	0	1	0	0	0	10195	412	15	3	1886	3	NBPF15	1	148594455	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	30428867	148594455	100656166	29	2314										
RPRD2	23248	hgsc.bcm.edu	37	chr1	150443782	150443782	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgagagctctccaattctgtAtctacatatcgaccctttgg	7	12	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:150443782A>T	ENST00000369068.4	+	11	2362	c.2358A>T	c.(2356-2358)gtA>gtT	p.V786V	RPRD2_ENST00000539519.1_Silent_p.V760V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.V760V	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	786	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAATTCTGTATCTACATATC	0.493																																					p.V786V		Atlas-SNP	.											RPRD2_ENST00000369068,NS,carcinoma,+2,2	RPRD2	189	2	0			c.A2358T						scavenged	.						84	77	79					1																	150443782		1884	4113	5997	SO:0001819	synonymous_variant	23248	exon11			TTCTGTATCTACA	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2358A>T	1.37:g.150443782A>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	CCDS44216.1																																																																																			.	.	none		0.493	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150443782	A	T	150443782	2	4	11	1	0	0	0	0	0	0	0	1	13617	436	16	5		5	RPRD2	1	150443782	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1849327	150443782	98806839	30	2315										
TCHH	7062	hgsc.bcm.edu	37	chr1	152082269	152082269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgctgcacctcctcttcctCccgatattgcctctccagct	5	19	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:152082269C>T	ENST00000368804.1	-	2	3423	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1142	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcttcctcccgatattgc	0.602																																					p.E1142K		Atlas-SNP	.											TCHH,NS,malignant_melanoma,0,1	TCHH	275	1	0			c.G3424A						scavenged	.						88	86	87					1																	152082269		1995	4159	6154	SO:0001583	missense	7062	exon3			CTTCCTCCCGATA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3424G>A	1.37:g.152082269C>T	ENSP00000357794:p.Glu1142Lys	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	141	5	0.035461	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334416	0.24253	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	2.89	1.94	0.25998	.	.	.	.	.	T	0.01489	0.0048	N	0.24115	0.695	0.09310	N	1	P	0.47762	0.9	B	0.37989	0.262	T	0.48445	-0.9035	9	0.46703	T	0.11	.	9.5203	0.39131	0.0:0.7829:0.2171:0.0	.	1142	Q07283	TRHY_HUMAN	K	1142	ENSP00000357794:E1142K	ENSP00000357794:E1142K	E	-	1	0	TCHH	150348893	0.001000	0.12720	0.001000	0.08648	0.229000	0.25112	0.771000	0.26633	0.375000	0.24679	0.455000	0.32223	GAG	.	.	none		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082269	C	T	152082269	3	4	11	1	0	0	0	0	1	0	0	0	15697	864	30	2	2411	2	TCHH	1	152082269	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1638487	152082269	97168352	31	2316										
FLG	2312	hgsc.bcm.edu	37	chr1	152276386	152276386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactggcctgactaccactgGaccctcggtgtccactgtct	9	16	1	1	rs199655799		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:152276386G>T	ENST00000368799.1	-	3	11011	c.10976C>A	c.(10975-10977)tCc>tAc	p.S3659Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3659	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACCACTGGACCCTCGGTG	0.587									Ichthyosis																												p.S3659Y		Atlas-SNP	.											FLG,NS,carcinoma,-1,1	FLG	900	1	0			c.C10976A						scavenged	.						34	37	36					1																	152276386		2198	4265	6463	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCACTGGACCCTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10976C>A	1.37:g.152276386G>T	ENSP00000357789:p.Ser3659Tyr	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	212	3	0.0141509	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490828	0.26774	.	.	ENSG00000143631	ENST00000368799	T	0.09073	3.02	4.47	2.48	0.30137	.	.	.	.	.	T	0.02455	0.0075	M	0.64997	1.995	0.09310	N	1	B	0.27416	0.178	B	0.35039	0.194	T	0.48703	-0.9012	9	0.02654	T	1	.	5.7821	0.18312	0.1012:0.0:0.7095:0.1893	.	3659	P20930	FILA_HUMAN	Y	3659	ENSP00000357789:S3659Y	ENSP00000357789:S3659Y	S	-	2	0	FLG	150543010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.583000	0.23849	0.561000	0.29186	0.552000	0.68991	TCC	.	.	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276386	G	T	152276386	3	4	11	1	0	0	0	0	1	0	0	0	5922	1174	41	4	1213	4	FLG	1	152276386	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	194117	152276386	96974235	32	2317										
FLG	2312	hgsc.bcm.edu	37	chr1	152284337	152284337	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accagaggaagtctctgcgtGaggagttcctgattgtctgg	14	8	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:152284337G>C	ENST00000368799.1	-	3	3060	c.3025C>G	c.(3025-3027)Cac>Gac	p.H1009D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1009	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCTGCGTGAGGAGTTCCT	0.582									Ichthyosis																												p.H1009D		Atlas-SNP	.											.	FLG	900	.	0			c.C3025G						PASS	.						304	306	305					1																	152284337		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGCGTGAGGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3025C>G	1.37:g.152284337G>C	ENSP00000357789:p.His1009Asp	Somatic	440	1	0.00227273		WXS	Illumina HiSeq	Phase_I	342	121	0.353801	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.802	-0.041479	0.07452	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00801	5.68	1.92	1.92	0.25849	.	.	.	.	.	T	0.00384	0.0012	M	0.76574	2.34	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.38845	-0.9642	9	0.12430	T	0.62	.	7.4495	0.27229	0.0:0.0:1.0:0.0	.	1009	P20930	FILA_HUMAN	D	1009;216	ENSP00000357789:H1009D	ENSP00000357789:H1009D	H	-	1	0	FLG	150550961	0.023000	0.18921	0.002000	0.10522	0.005000	0.04900	0.112000	0.15479	1.409000	0.46915	0.291000	0.19559	CAC	.	.	none		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152284337	G	C	152284337	3	2	11	1	0	0	0	0	1	0	0	0	5922	1290	45	4	9164	4	FLG	1	152284337	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	7951	152284337	96966284	33	2318										
FLG2	388698	hgsc.bcm.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																					p.S769S		Atlas-SNP	.											FLG2,NS,carcinoma,0,1	FLG2	431	1	1	Substitution - coding silent(1)	kidney(1)	c.C2307T						scavenged	.						412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			GCCATAGCTAGAC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	134	3	0.0223881	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.	.	none		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152327955	G	A	152327955	2	1	11	1	0	0	0	0	0	0	0	1	5923	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	43618	152327955	96922666	34	2319										
TDRD10	126668	hgsc.bcm.edu	37	chr1	154519897	154519897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttttgcagacattttgagttCgtatgaggttgtccatcgaa	10	6	0	3	rs372155332		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:154519897C>T	ENST00000368480.3	+	12	1050	c.965C>T	c.(964-966)tCg>tTg	p.S322L	TDRD10_ENST00000368482.4_Missense_Mutation_p.S322L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	322							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S322L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTTTGAGTTCGTATGAGGTT	0.517																																					p.S322L		Atlas-SNP	.											TDRD10,caecum,carcinoma,0,2	TDRD10	48	2	2	Substitution - Missense(2)	large_intestine(2)	c.C965T						scavenged	.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	188	143	158		965,965	3.2	0	1		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TDRD10	NM_182499.3,NM_001098475.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	322/352,322/367	154519897	1,13005	2203	4300	6503	SO:0001583	missense	126668	exon12			TGAGTTCGTATGA	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.965C>T	1.37:g.154519897C>T	ENSP00000357465:p.Ser322Leu	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	228	3	0.0131579	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161244	0.78226	0.0	1.16E-4	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.37235	1.24;1.21	5.08	3.17	0.36434	.	0.133058	0.32503	N	0.006013	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B	0.24132	0.059;0.098	B;B	0.16722	0.013;0.016	T	0.40590	-0.9555	10	0.05721	T	0.95	-1.2775	6.7139	0.23292	0.0:0.7261:0.1792:0.0947	.	322;322	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	322	ENSP00000357467:S322L;ENSP00000357465:S322L	ENSP00000357465:S322L	S	+	2	0	TDRD10	152786521	0.000000	0.05858	0.001000	0.08648	0.453000	0.32348	0.436000	0.21526	0.708000	0.31955	0.655000	0.94253	TCG	.	.	none		0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		T	154519897	C	T	154519897	3	4	11	1	0	0	0	0	1	0	0	0	15728	893	31	1	1007	1	TDRD10	1	154519897	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2191942	154519897	94730724	35	2320										
MEX3A	92312	hgsc.bcm.edu	37	chr1	156047300	156047300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacaccaaaggcggcgcctgActtgttgcgggaggcacgga	15	12	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:156047300A>G	ENST00000532414.2	-	2	627	c.628T>C	c.(628-630)Tca>Cca	p.S210P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCGGCGCCTGACTTGTTGCGG	0.672																																					p.S210P		Atlas-SNP	.											.	MEX3A	33	.	0			c.T628C						PASS	.						40	48	45					1																	156047300		2159	4272	6431	SO:0001583	missense	92312	exon2			CGCCTGACTTGTT	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.628T>C	1.37:g.156047300A>G	ENSP00000432845:p.Ser210Pro	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	108	7	0.0648148	NM_001093725		Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032059	0.35893	.	.	ENSG00000254726	ENST00000532414	T	0.47869	0.83	5.15	3.95	0.45737	.	0.280783	0.30293	N	0.009946	T	0.14270	0.0345	N	0.19112	0.55	0.31477	N	0.667688	P	0.44195	0.828	B	0.36289	0.221	T	0.05273	-1.0895	10	0.38643	T	0.18	.	9.7334	0.40374	0.6547:0.3453:0.0:0.0	.	210	A1L020	MEX3A_HUMAN	P	210	ENSP00000432845:S210P	ENSP00000432845:S210P	S	-	1	0	MEX3A	154313924	0.999000	0.42202	0.995000	0.50966	0.944000	0.59088	2.028000	0.41088	1.950000	0.56595	0.379000	0.24179	TCA	.	.	none		0.672	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		G	156047300	A	G	156047300	3	3	11	1	0	0	0	0	1	0	0	0	9509	275	10	2	938	2	MEX3A	1	156047300	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1527403	156047300	93203321	36	2321										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156883019	156883019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctacagtcactactactccaAccccagctaccacaccctgt	3	19	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:156883019A>T	ENST00000338302.3	+	20	2681	c.2456A>T	c.(2455-2457)aAc>aTc	p.N819I	PEAR1_ENST00000292357.7_Missense_Mutation_p.N819I			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	819	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TACTACTCCAACCCCAGCTAC	0.602																																					p.N819I		Atlas-SNP	.											.	PEAR1	118	.	0			c.A2456T						PASS	.						134	127	130					1																	156883019		2203	4300	6503	SO:0001583	missense	375033	exon19			ACTCCAACCCCAG	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2456A>T	1.37:g.156883019A>T	ENSP00000344465:p.Asn819Ile	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	108	50	0.462963	NM_001080471	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	A	30	5.050917	0.93740	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.92446	-3.04;-3.04	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000068	D	0.94568	0.8250	M	0.71036	2.16	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.95172	0.8291	10	0.72032	D	0.01	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	819	Q5VY43	PEAR1_HUMAN	I	819	ENSP00000344465:N819I;ENSP00000292357:N819I	ENSP00000292357:N819I	N	+	2	0	PEAR1	155149643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.227000	0.89787	2.272000	0.75746	0.460000	0.39030	AAC	.	.	none		0.602	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156883019	A	T	156883019	3	4	11	1	0	0	0	0	1	0	0	0	11712	43	2	5	2526	5	PEAR1	1	156883019	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	835719	156883019	92367602	37	2322										
FCRL5	83416	hgsc.bcm.edu	37	chr1	157494098	157494098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcagtgtcaccatctcactgCgctgggcctccagaccattg	9	15	3	1	rs182413546		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:157494098C>T	ENST00000361835.3	-	10	2367	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368191.3_Missense_Mutation_p.R652H|FCRL5_ENST00000356953.4_Missense_Mutation_p.R737H|FCRL5_ENST00000368190.3_Missense_Mutation_p.R737H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	737	Ig-like C2-type 7.				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)				CATCTCACTGCGCTGGGCCTC	0.562													c|||	1	0.000199681	0.0	0.0014	5008	,	,		20570	0.0		0.0	False		,,,				2504	0.0				p.R737H		Atlas-SNP	.											FCRL5,right_upper_lobe,carcinoma,-1,1	FCRL5	177	1	0			c.G2210A						scavenged	.						51	55	53					1																	157494098		2203	4300	6503	SO:0001583	missense	83416	exon10			TCACTGCGCTGGG	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.2210G>A	1.37:g.157494098C>T	ENSP00000354691:p.Arg737His	Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	311	4	0.0128617	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.07	1.249286	0.22880	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	4.83	-9.65	0.00537	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00754	0.0025	L	0.33710	1.025	0.09310	N	1	B;B;B;B	0.29378	0.206;0.243;0.061;0.061	B;B;B;B	0.28232	0.052;0.087;0.072;0.049	T	0.31024	-0.9958	9	0.29301	T	0.29	.	8.5595	0.33503	0.13:0.2841:0.0:0.5859	.	652;737;737;737	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	H	737;737;737;652	ENSP00000354691:R737H;ENSP00000349434:R737H;ENSP00000357173:R737H;ENSP00000357174:R652H	ENSP00000349434:R737H	R	-	2	0	FCRL5	155760722	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.872000	0.00720	-2.855000	0.00329	-0.142000	0.14014	CGC	C|1.000;T|0.000	0.000	strong		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157494098	C	T	157494098	3	4	11	1	0	0	0	0	1	0	0	0	5798	768	27	1	755	1	FCRL5	1	157494098	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	611079	157494098	91756523	38	2323										
OR6K6	128371	hgsc.bcm.edu	37	chr1	158725103	158725103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tacccaaccatcatgattccCaaactttgtatccagctgac	4	14	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:158725103C>T	ENST00000368144.2	+	1	594	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCATGATTCCCAAACTTTGTA	0.478																																					p.P166P		Atlas-SNP	.											OR6K6,right_upper_lobe,carcinoma,+2,1	OR6K6	81	1	0			c.C498T						scavenged	.						146	121	129					1																	158725103		2203	4300	6503	SO:0001819	synonymous_variant	128371	exon1			GATTCCCAAACTT	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.498C>T	1.37:g.158725103C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	128	2	0.015625	NM_001005184	B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	CCDS30904.1																																																																																			.	.	none		0.478	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		T	158725103	C	T	158725103	2	4	11	1	0	0	0	0	0	0	0	1	11204	581	21	2		2	OR6K6	1	158725103	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1231005	158725103	90525518	39	2324										
SLAMF6	114836	hgsc.bcm.edu	37	chr1	160461146	160461146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catattctgaaatagctgacTgtgattggtaacttgtatgt	9	5	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:160461146T>C	ENST00000368057.3	-	3	475	c.415A>G	c.(415-417)Agt>Ggt	p.S139G	SLAMF6_ENST00000368059.3_Missense_Mutation_p.S139G|SLAMF6_ENST00000368055.1_Missense_Mutation_p.S28G			Q96DU3	SLAF6_HUMAN	SLAM family member 6	139	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AATAGCTGACTGTGATTGGTA	0.428																																					p.S139G		Atlas-SNP	.											.	SLAMF6	46	.	0			c.A415G						PASS	.						109	104	106					1																	160461146		2203	4300	6503	SO:0001583	missense	114836	exon3			GCTGACTGTGATT	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.415A>G	1.37:g.160461146T>C	ENSP00000357036:p.Ser139Gly	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	36	0.378947	NM_052931	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247160	0.39697	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.38887	1.11;1.11;1.11	4.37	-3.72	0.04411	Immunoglobulin-like fold (1);	1.726580	0.02671	N	0.108596	T	0.18718	0.0449	M	0.65975	2.015	0.09310	N	1	P;P;D;D;D;D	0.61080	0.897;0.897;0.986;0.986;0.989;0.989	P;P;P;B;P;P	0.46299	0.459;0.459;0.494;0.376;0.511;0.511	T	0.20405	-1.0276	10	0.23891	T	0.37	-0.0012	0.4572	0.00511	0.3174:0.2848:0.1478:0.25	.	28;28;90;139;139;139	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	G	139;139;28	ENSP00000357038:S139G;ENSP00000357036:S139G;ENSP00000357034:S28G	ENSP00000357034:S28G	S	-	1	0	SLAMF6	158727770	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.900000	0.04097	-0.582000	0.05929	0.533000	0.62120	AGT	.	.	none		0.428	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		C	160461146	T	C	160461146	3	2	11	1	0	0	0	0	1	0	0	0	14368	1580	55	3	607	3	SLAMF6	1	160461146	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1736043	160461146	88789475	40	2325										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caagttcccgagaggagagcCcagagccctacttcttccgc	10	15	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:167097477C>T	ENST00000361200.2	+	6	3275	c.3109C>T	c.(3109-3111)Cca>Tca	p.P1037S	DUSP27_ENST00000271385.5_Missense_Mutation_p.P1037S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1037S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1037					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGAGCCCAGAGCCCTA	0.587																																					p.P1037S		Atlas-SNP	.											.	DUSP27	235	.	0			c.C3109T						PASS	.						36	40	39					1																	167097477		2203	4300	6503	SO:0001583	missense	92235	exon5			GAGAGCCCAGAGC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3109C>T	1.37:g.167097477C>T	ENSP00000354483:p.Pro1037Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	88	41	0.465909	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766633	0.69878	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03663	3.85;3.85;3.85	5.42	5.42	0.78866	.	0.000000	0.50627	D	0.000120	T	0.12433	0.0302	M	0.65975	2.015	0.44956	D	0.997975	D	0.89917	1.0	D	0.83275	0.996	T	0.01152	-1.1435	10	0.87932	D	0	-14.3953	19.2273	0.93822	0.0:1.0:0.0:0.0	.	1037	Q5VZP5	DUS27_HUMAN	S	1037	ENSP00000354483:P1037S;ENSP00000271385:P1037S;ENSP00000404874:P1037S	ENSP00000271385:P1037S	P	+	1	0	DUSP27	165364101	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.548000	0.53670	2.530000	0.85305	0.643000	0.83706	CCA	.	.	none		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167097477	C	T	167097477	3	4	11	1	0	0	0	0	1	0	0	0	4824	623	22	2	3127	2	DUSP27	1	167097477	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	6636331	167097477	82153144	41	2326										
KIF14	9928	hgsc.bcm.edu	37	chr1	200550342	200550342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tactcacctgccaaaaacatAgtatgttttcaatttgctgc	5	10	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:200550342A>G	ENST00000367350.4	-	20	3760	c.3322T>C	c.(3322-3324)Tat>Cat	p.Y1108H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1108	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCAAAAACATAGTATGTTTTC	0.308																																					p.Y1108H		Atlas-SNP	.											KIF14,NS,carcinoma,+1,1	KIF14	156	1	0			c.T3322C						scavenged	.						90	93	92					1																	200550342		2202	4300	6502	SO:0001583	missense	9928	exon20			AAACATAGTATGT	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3322T>C	1.37:g.200550342A>G	ENSP00000356319:p.Tyr1108His	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	275	3	0.0109091	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.327760	0.60743	.	.	ENSG00000118193	ENST00000367350	T	0.16597	2.33	5.44	4.24	0.50183	.	0.153645	0.40818	N	0.001009	T	0.28797	0.0714	M	0.63428	1.95	0.33949	D	0.644234	D	0.69078	0.997	P	0.62089	0.898	T	0.29640	-1.0005	10	0.15499	T	0.54	.	8.3451	0.32268	0.6775:0.0:0.0:0.3225	.	1108	Q15058	KIF14_HUMAN	H	1108	ENSP00000356319:Y1108H	ENSP00000356319:Y1108H	Y	-	1	0	KIF14	198816965	1.000000	0.71417	0.891000	0.34965	0.669000	0.39330	4.981000	0.63819	2.058000	0.61347	0.383000	0.25322	TAT	.	.	none		0.308	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		G	200550342	A	G	200550342	3	3	11	1	0	0	0	0	1	0	0	0	8276	420	15	3	1668	3	KIF14	1	200550342	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	33452865	200550342	48700279	42	2327										
ADORA1	134	hgsc.bcm.edu	37	chr1	203134499	203134499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tggctggaacaatctgagtgCggtggagcgggcctgggcag	19	8	1	1	rs145647777	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:203134499C>T	ENST00000367236.4	+	3	1373	c.452C>T	c.(451-453)gCg>gTg	p.A151V	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.A151V|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.A151V	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	151					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	AATCTGAGTGCGGTGGAGCGG	0.622																																					p.A151V		Atlas-SNP	.											.	ADORA1	62	.	0			c.C452T						PASS	.	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96	98	97		452,452	-2.5	0	1	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	ADORA1	NM_000674.2,NM_001048230.1	64,64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign	151/327,151/327	203134499	4,13002	2203	4300	6503	SO:0001583	missense	134	exon3			TGAGTGCGGTGGA	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.452C>T	1.37:g.203134499C>T	ENSP00000356205:p.Ala151Val	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	128	60	0.46875	NM_001048230	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990226	0.18966	2.27E-4	3.49E-4	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.36699	1.24;1.24;1.24	5.04	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	1.079960	0.06915	N	0.808370	T	0.19005	0.0456	N	0.12471	0.22	0.09310	N	1	B;B;B	0.14438	0.007;0.01;0.0	B;B;B	0.12156	0.005;0.007;0.002	T	0.27400	-1.0075	10	0.30854	T	0.27	-2.041	7.6008	0.28075	0.4019:0.3808:0.0:0.2173	.	184;83;151	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	V	151	ENSP00000308549:A151V;ENSP00000356205:A151V;ENSP00000338435:A151V	ENSP00000308549:A151V	A	+	2	0	ADORA1	201401122	0.001000	0.12720	0.029000	0.17559	0.521000	0.34408	0.081000	0.14823	-0.240000	0.09696	-0.538000	0.04264	GCG	C|1.000;T|0.000	0.000	strong		0.622	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		T	203134499	C	T	203134499	3	4	11	1	0	0	0	0	1	0	0	0	326	768	27	1	458	1	ADORA1	1	203134499	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2584157	203134499	46116122	43	2328										
FMOD	2331	hgsc.bcm.edu	37	chr1	203316506	203316506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctggttgtaggagaggtctAgctcaaggaggctgctggaa	17	6	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:203316506A>G	ENST00000354955.4	-	2	1356	c.893T>C	c.(892-894)cTa>cCa	p.L298P	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	298					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGAGAGGTCTAGCTCAAGGAG	0.562																																					p.L298P		Atlas-SNP	.											FMOD,NS,carcinoma,0,2	FMOD	49	2	0			c.T893C						scavenged	.						153	144	147					1																	203316506		2203	4300	6503	SO:0001583	missense	2331	exon2			AGGTCTAGCTCAA	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.893T>C	1.37:g.203316506A>G	ENSP00000347041:p.Leu298Pro	Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	259	4	0.015444	NM_002023	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747207	0.69418	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	D	0.81908	-1.55	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96566	0.9419	10	0.87932	D	0	-18.5485	13.8772	0.63660	1.0:0.0:0.0:0.0	.	298	Q06828	FMOD_HUMAN	P	285;298	ENSP00000347041:L298P	ENSP00000347041:L298P	L	-	2	0	FMOD	201583129	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.962000	0.93254	1.956000	0.56807	0.533000	0.62120	CTA	.	.	none		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		G	203316506	A	G	203316506	3	3	11	1	0	0	0	0	1	0	0	0	5959	420	15	3	245	3	FMOD	1	203316506	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	182007	203316506	45934115	44	2329										
PROX1	5629	hgsc.bcm.edu	37	chr1	214178516	214178516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attgcatcctacatgcaggaAggattgtcacccaatcactt	7	11	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:214178516A>C	ENST00000366958.4	+	3	2342	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D	PROX1_ENST00000435016.1_Missense_Mutation_p.E578D|PROX1_ENST00000261454.4_Missense_Mutation_p.E578D|PROX1_ENST00000498508.2_Missense_Mutation_p.E578D	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	578					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACATGCAGGAAGGATTGTCAC	0.473																																					p.E578D		Atlas-SNP	.											.	PROX1	124	.	0			c.A1734C						PASS	.						107	106	106					1																	214178516		2203	4300	6503	SO:0001583	missense	5629	exon3			GCAGGAAGGATTG	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1734A>C	1.37:g.214178516A>C	ENSP00000355925:p.Glu578Asp	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	98	31	0.316327	NM_001270616	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.219080	0.58560	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.78	5.78	0.91487	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.81942	2.565	0.80722	D	1	P	0.38455	0.632	P	0.46389	0.515	T	0.64390	-0.6419	10	0.72032	D	0.01	-4.296	10.4496	0.44513	0.9278:0.0:0.0722:0.0	.	578	Q92786	PROX1_HUMAN	D	150;578;578;578;578	ENSP00000420283:E578D;ENSP00000355925:E578D;ENSP00000400694:E578D;ENSP00000261454:E578D	ENSP00000261454:E578D	E	+	3	2	PROX1	212245139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.179000	0.50887	2.200000	0.70718	0.460000	0.39030	GAA	.	.	none		0.473	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		C	214178516	A	C	214178516	3	2	11	1	0	0	0	0	1	0	0	0	12560	69	3	5	1740	5	PROX1	1	214178516	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	10862010	214178516	35072105	45	2330										
C1orf65	164127	hgsc.bcm.edu	37	chr1	223567883	223567883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaccagaggaccaggagagcCcgcgccaggagaagctggag	16	11	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:223567883C>T	ENST00000366875.3	+	1	1169	c.1066C>T	c.(1066-1068)Ccg>Tcg	p.P356S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		356										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAGGAGAGCCCGCGCCAGGA	0.687																																					p.P356S		Atlas-SNP	.											C1orf65,rectum,carcinoma,-1,1	C1orf65	71	1	0			c.C1066T						scavenged	.						12	17	15					1																	223567883		2192	4288	6480	SO:0001583	missense	164127	exon1			GAGAGCCCGCGCC																												ENST00000366875.3:c.1066C>T	1.37:g.223567883C>T	ENSP00000355840:p.Pro356Ser	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	60	2	0.0333333	NM_152610	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416426	0.01136	.	.	ENSG00000178395	ENST00000366875	T	0.20069	2.1	4.27	3.28	0.37604	.	.	.	.	.	T	0.12518	0.0304	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24584	-1.0156	9	0.09843	T	0.71	.	9.9791	0.41802	0.0:0.6389:0.3611:0.0	.	356	Q8N715	CA065_HUMAN	S	356	ENSP00000355840:P356S	ENSP00000355840:P356S	P	+	1	0	C1orf65	221634506	0.000000	0.05858	0.005000	0.12908	0.257000	0.26127	0.469000	0.22067	1.911000	0.55334	0.650000	0.86243	CCG	.	.	none		0.687	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223567883	C	T	223567883	3	4	11	1	0	0	0	0	1	0	0	0	2055	623	22	2	1068	2	C1orf65	1	223567883	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	9389367	223567883	25682738	46	2331										
TARBP1	6894	hgsc.bcm.edu	37	chr1	234603278	234603278	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctggtgaaaatggaagaatCtttgtttcatacagctccaa	8	7	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:234603278C>T	ENST00000040877.1	-	4	1217	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	406					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.K406N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGGAAGAATCTTTGTTTCAT	0.373																																					p.K406K		Atlas-SNP	.											TARBP1,NS,carcinoma,0,1	TARBP1	111	1	1	Substitution - Missense(1)	endometrium(1)	c.G1218A						scavenged	.						116	116	116					1																	234603278		2203	4300	6503	SO:0001819	synonymous_variant	6894	exon4			AAGAATCTTTGTT		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1218G>A	1.37:g.234603278C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	208	3	0.0144231	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			.	.	none		0.373	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234603278	C	T	234603278	2	4	11	1	0	0	0	0	0	0	0	1	15552	912	32	2		2	TARBP1	1	234603278	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11035395	234603278	14647343	47	2332										
RYR2	6262	hgsc.bcm.edu	37	chr1	237580416	237580416	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttggagactagagacgctaAgagttgcgtaagtagaactt	12	5	0	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:237580416A>C	ENST00000366574.2	+	11	1158	c.841A>C	c.(841-843)Aga>Cga	p.R281R	RYR2_ENST00000542537.1_Silent_p.R265R|RYR2_ENST00000360064.6_Silent_p.R279R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	281					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGACGCTAAGAGTTGCGTA	0.443																																					p.R281R		Atlas-SNP	.											RYR2,NS,carcinoma,-1,2	RYR2	1273	2	0			c.A841C						PASS	.						120	117	118					1																	237580416		2050	4217	6267	SO:0001819	synonymous_variant	6262	exon11			ACGCTAAGAGTTG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.841A>C	1.37:g.237580416A>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	63	22	0.349206	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.	.	none		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237580416	A	C	237580416	2	2	11	1	0	0	0	0	0	0	0	1	13769	64	3	5		5	RYR2	1	237580416	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	2977138	237580416	11670205	48	2333										
RYR2	6262	hgsc.bcm.edu	37	chr1	237791370	237791370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aagaagagaagctcatgattCgtggattagggtaaattatt	11	3	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:237791370C>T	ENST00000366574.2	+	41	6747	c.6430C>T	c.(6430-6432)Cgt>Tgt	p.R2144C	RYR2_ENST00000542537.1_Missense_Mutation_p.R2128C|RYR2_ENST00000360064.6_Missense_Mutation_p.R2142C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2144	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCATGATTCGTGGATTAGG	0.408																																					p.R2144C		Atlas-SNP	.											RYR2,colon,carcinoma,0,2	RYR2	1273	2	0			c.C6430T						scavenged	.						113	122	119					1																	237791370		1963	4140	6103	SO:0001583	missense	6262	exon41			ATGATTCGTGGAT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6430C>T	1.37:g.237791370C>T	ENSP00000355533:p.Arg2144Cys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493041	0.64186	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96856	-4.15;-4.12;-4.15	5.53	5.53	0.82687	Intracellular calcium-release channel (1);	0.083612	0.44483	D	0.000450	D	0.96944	0.9002	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97707	1.0188	10	0.87932	D	0	-7.0119	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2144	Q92736	RYR2_HUMAN	C	2144;2142;2128	ENSP00000355533:R2144C;ENSP00000353174:R2142C;ENSP00000443798:R2128C	ENSP00000353174:R2142C	R	+	1	0	RYR2	235857993	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.485000	0.45250	2.762000	0.94881	0.591000	0.81541	CGT	.	.	none		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237791370	C	T	237791370	3	4	11	1	0	0	0	0	1	0	0	0	13769	884	31	1	6592	1	RYR2	1	237791370	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	210954	237791370	11459251	49	2334										
OR2M2	391194	hgsc.bcm.edu	37	chr1	248344182	248344182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccgcaacaaggaggtgactAgagcattcatgaagatctta	10	8	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:248344182A>G	ENST00000359682.2	+	1	895	c.895A>G	c.(895-897)Aga>Gga	p.R299G		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			GGAGGTGACTAGAGCATTCAT	0.438																																					p.R299G		Atlas-SNP	.											.	OR2M2	149	.	0			c.A895G						PASS	.						206	199	201					1																	248344182		2203	4300	6503	SO:0001583	missense	391194	exon1			GTGACTAGAGCAT	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.895A>G	1.37:g.248344182A>G	ENSP00000352710:p.Arg299Gly	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	137	93	0.678832	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.433136	0.00182	.	.	ENSG00000198601	ENST00000359682	T	0.39056	1.1	2.03	-4.06	0.03986	.	.	.	.	.	T	0.15392	0.0371	N	0.12471	0.22	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.28870	-1.0030	9	0.02654	T	1	.	3.493	0.07645	0.1485:0.1352:0.5811:0.1351	.	299	Q96R28	OR2M2_HUMAN	G	299	ENSP00000352710:R299G	ENSP00000352710:R299G	R	+	1	2	OR2M2	246410805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.524000	0.01764	-0.478000	0.04885	AGA	.	.	none		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		G	248344182	A	G	248344182	3	3	11	1	0	0	0	0	1	0	0	0	11010	412	15	3	897	3	OR2M2	1	248344182	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	10552812	248344182	906439	50	2335										
OR2M3	127062	hgsc.bcm.edu	37	chr1	248366819	248366819	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgactgccttttcctggatCctgggctctacggatggaat	11	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr1:248366819C>T	ENST00000456743.1	+	1	488	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			TTTCCTGGATCCTGGGCTCTA	0.468																																					p.I150I		Atlas-SNP	.											.	OR2M3	116	.	0			c.C450T						PASS	.						202	196	198					1																	248366819		2203	4300	6503	SO:0001819	synonymous_variant	127062	exon1			CTGGATCCTGGGC		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.450C>T	1.37:g.248366819C>T		Somatic	384	1	0.00260417		WXS	Illumina HiSeq	Phase_I	180	116	0.644444	NM_001004689	B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	CCDS31107.1																																																																																			.	.	none		0.468	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		T	248366819	C	T	248366819	2	4	11	1	0	0	0	0	0	0	0	1	11011	845	30	2		2	OR2M3	1	248366819	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	22637	248366819	883802	51	2336										
C2orf39	92749	hgsc.bcm.edu	37	chr2	26654770	26654770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agctggagtatcttaacaacCgcatgaagaaagtagaggac	11	7	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:26654770C>T	ENST00000288710.2	+	7	858	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	262					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TCTTAACAACCGCATGAAGAA	0.493																																					p.R262C		Atlas-SNP	.											CCDC164,NS,carcinoma,-1,1	CCDC164	84	1	0			c.C784T						scavenged	.						150	147	148					2																	26654770		2203	4300	6503	SO:0001583	missense	92749	exon7			AACAACCGCATGA	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.784C>T	2.37:g.26654770C>T	ENSP00000288710:p.Arg262Cys	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	156	3	0.0192308	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277876	0.59758	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.18960	2.18	5.65	5.65	0.86999	.	0.142077	0.64402	D	0.000005	T	0.51295	0.1666	M	0.80847	2.515	0.47441	D	0.999428	D	0.89917	1.0	D	0.85130	0.997	T	0.51988	-0.8635	10	0.56958	D	0.05	-15.95	18.4958	0.90864	0.0:1.0:0.0:0.0	.	262	Q96MC2	CC164_HUMAN	C	262;91	ENSP00000288710:R262C	ENSP00000288710:R262C	R	+	1	0	CCDC164	26508274	0.992000	0.36948	0.999000	0.59377	0.186000	0.23388	2.977000	0.49297	2.659000	0.90383	0.655000	0.94253	CGC	.	.	none		0.493	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26654770	C	T	26654770	3	4	11	1	0	0	0	0	1	0	0	0	2164	652	23	1	810	1	C2orf39	2	26654770	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10		26654770	216544603	52	2337										
OTOF	9381	hgsc.bcm.edu	37	chr2	26696112	26696112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgaccgaaggcccggcagtcCaccacacggatgttcaaggg	13	14	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:26696112C>T	ENST00000272371.2	-	29	3747	c.3621G>A	c.(3619-3621)gtG>gtA	p.V1207V	OTOF_ENST00000402415.3_Silent_p.V517V|OTOF_ENST00000338581.6_Silent_p.V460V|OTOF_ENST00000403946.3_Silent_p.V1207V|OTOF_ENST00000339598.3_Silent_p.V460V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1207					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGGCAGTCCACCACACGGA	0.667																																					p.V1207V	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											OTOF_ENST00000361394,NS,carcinoma,-2,2	OTOF	524	2	0			c.G3621A						scavenged	.						59	58	58					2																	26696112		2203	4300	6503	SO:0001819	synonymous_variant	9381	exon29			GCAGTCCACCACA	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3621G>A	2.37:g.26696112C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	214	3	0.0140187	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270436	0.23221	.	.	ENSG00000115155	ENST00000426958	.	.	.	4.68	-0.675	0.11364	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36578	-0.9742	4	.	.	.	-18.2206	4.9019	0.13779	0.1335:0.4692:0.0:0.3973	.	.	.	.	R	63	.	.	G	-	1	0	OTOF	26549616	0.857000	0.29778	0.995000	0.50966	0.926000	0.56050	0.016000	0.13377	-0.184000	0.10567	0.305000	0.20034	GGA	.	.	none		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26696112	C	T	26696112	2	4	11	1	0	0	0	0	0	0	0	1	11303	581	21	2		2	OTOF	2	26696112	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	41342	26696112	216503261	53	2338										
DPYSL5	56896	hgsc.bcm.edu	37	chr2	27163001	27163001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atcccacatggagtgagtggCgtgcaggaccgcatgagcgt	15	10	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:27163001C>T	ENST00000288699.6	+	9	1208	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	DPYSL5_ENST00000401478.1_Silent_p.G350G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	350					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTGAGTGGCGTGCAGGACC	0.552																																					p.G350G		Atlas-SNP	.											.	DPYSL5	69	.	0			c.C1050T						PASS	.						165	140	148					2																	27163001		2203	4300	6503	SO:0001819	synonymous_variant	56896	exon9			GAGTGGCGTGCAG	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1050C>T	2.37:g.27163001C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	65	20	0.307692	NM_001253724	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	CCDS1730.1																																																																																			.	.	none		0.552	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		T	27163001	C	T	27163001	2	4	11	1	0	0	0	0	0	0	0	1	4750	755	27	1		1	DPYSL5	2	27163001	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	466889	27163001	216036372	54	2339										
GTF3C2	2976	hgsc.bcm.edu	37	chr2	27549652	27549652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcggctttcaagctgcatacGgtggcccagtggggaggcga	16	10	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:27549652G>A	ENST00000359541.2	-	19	3055	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.R876C			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	876					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGCATACGGTGGCCCAGT	0.592																																					p.A876S		Atlas-SNP	.											GTF3C2,caecum,carcinoma,+1,1	GTF3C2	73	1	0			c.G2626T						scavenged	.						101	100	100					2																	27549652		2203	4300	6503	SO:0001583	missense	2976	exon20			GCATACGGTGGCC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2626C>T	2.37:g.27549652G>A	ENSP00000352536:p.Arg876Cys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_001521	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958706	0.74016	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.76060	-0.99;-0.99	5.31	5.31	0.75309	.	0.116998	0.56097	D	0.000023	T	0.75474	0.3854	N	0.24115	0.695	0.50171	D	0.999852	D	0.89917	1.0	D	0.67548	0.952	T	0.77294	-0.2641	10	0.72032	D	0.01	-4.6885	11.4194	0.49971	0.0:0.0:0.8202:0.1798	.	876	Q8WUA4	TF3C2_HUMAN	C	876	ENSP00000352536:R876C;ENSP00000264720:R876C	ENSP00000264720:R876C	R	-	1	0	GTF3C2	27403156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.739000	0.38217	2.758000	0.94735	0.655000	0.94253	CGT	.	.	none		0.592	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			A	27549652	G	A	27549652	3	1	11	1	0	0	0	0	1	0	0	0	6873	1116	39	1	113	1	GTF3C2	2	27549652	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	386651	27549652	215649721	55	2340										
FAM179A	165186	hgsc.bcm.edu	37	chr2	29225519	29225519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcctctcatccagagcatccCtaccacccctgaggccagcg	8	19	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:29225519C>T	ENST00000379558.4	+	5	896	c.545C>T	c.(544-546)cCt>cTt	p.P182L	FAM179A_ENST00000403861.2_Missense_Mutation_p.P182L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	182										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGCATCCCTACCACCCCT	0.652																																					p.P182L		Atlas-SNP	.											.	FAM179A	106	.	0			c.C545T						PASS	.						31	38	36					2																	29225519		1994	4161	6155	SO:0001583	missense	165186	exon5			GCATCCCTACCAC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.545C>T	2.37:g.29225519C>T	ENSP00000368876:p.Pro182Leu	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	95	35	0.368421	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291836	0.59976	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.52526	1.47;0.66	5.03	5.03	0.67393	.	.	.	.	.	T	0.57740	0.2074	L	0.32530	0.975	0.43632	D	0.996029	D;P	0.89917	1.0;0.779	D;B	0.91635	0.999;0.251	T	0.61357	-0.7079	9	0.87932	D	0	.	13.87	0.63612	0.0:1.0:0.0:0.0	.	182;182	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	182	ENSP00000368876:P182L;ENSP00000384699:P182L	ENSP00000368876:P182L	P	+	2	0	FAM179A	29079023	0.966000	0.33281	1.000000	0.80357	0.304000	0.27724	2.654000	0.46699	2.319000	0.78375	0.555000	0.69702	CCT	.	.	none		0.652	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29225519	C	T	29225519	3	4	11	1	0	0	0	0	1	0	0	0	5505	681	24	2	559	2	FAM179A	2	29225519	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1675867	29225519	213973854	56	2341										
STRN	6801	hgsc.bcm.edu	37	chr2	37082372	37082372	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tacttgtatctacattggatTctaaagtgagaatgcgttgt	9	5	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:37082372T>A	ENST00000263918.4	-	15	1969	c.1961A>T	c.(1960-1962)gAa>gTa	p.E654V	STRN_ENST00000379213.2_Missense_Mutation_p.E605V	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	654					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TACATTGGATTCTAAAGTGAG	0.343																																					p.E654V		Atlas-SNP	.											STRN,NS,carcinoma,-1,1	STRN	71	1	0			c.A1961T						scavenged	.						182	155	164					2																	37082372		2203	4300	6503	SO:0001583	missense	6801	exon15			TTGGATTCTAAAG	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1961A>T	2.37:g.37082372T>A	ENSP00000263918:p.Glu654Val	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	123	2	0.0162602	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559629	0.65538	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.30182	1.54;1.54	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048179	0.85682	D	0.000000	T	0.43478	0.1249	M	0.66939	2.045	0.80722	D	1	P;P	0.51791	0.948;0.715	P;B	0.51135	0.66;0.374	T	0.42799	-0.9430	10	0.56958	D	0.05	-17.5894	13.5497	0.61726	0.0:0.0:0.0:1.0	.	605;654	O43815-2;O43815	.;STRN_HUMAN	V	654;629;605	ENSP00000263918:E654V;ENSP00000368513:E605V	ENSP00000263918:E654V	E	-	2	0	STRN	36935876	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.041000	0.76558	1.944000	0.56390	0.482000	0.46254	GAA	.	.	none		0.343	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			A	37082372	T	A	37082372	3	1	11	1	0	0	0	0	1	0	0	0	15328	1783	62	5	397	5	STRN	2	37082372	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	7856853	37082372	206117001	57	2342										
SRBD1	55133	hgsc.bcm.edu	37	chr2	45620107	45620107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcgaaagtcaaagctttcaGgctggctgagaccatctatg	10	9	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:45620107G>A	ENST00000263736.4	-	20	2737	c.2675C>T	c.(2674-2676)cCt>cTt	p.P892L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.P411L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	892					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.P892H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCTTTCAGGCTGGCTGAG	0.398																																					p.P892L		Atlas-SNP	.											SRBD1,NS,carcinoma,0,1	SRBD1	107	1	1	Substitution - Missense(1)	kidney(1)	c.C2675T						scavenged	.						336	273	294					2																	45620107		2203	4300	6503	SO:0001583	missense	55133	exon20			CTTTCAGGCTGGC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2675C>T	2.37:g.45620107G>A	ENSP00000263736:p.Pro892Leu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914795	0.92178	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.40756	1.36;1.02	5.55	5.55	0.83447	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77950	-0.2395	10	0.87932	D	0	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	892	Q8N5C6	SRBD1_HUMAN	L	892;411	ENSP00000263736:P892L;ENSP00000441272:P411L	ENSP00000263736:P892L	P	-	2	0	SRBD1	45473611	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.306000	0.89962	2.767000	0.95098	0.563000	0.77884	CCT	.	.	none		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		A	45620107	G	A	45620107	3	1	11	1	0	0	0	0	1	0	0	0	15132	1000	35	2	320	2	SRBD1	2	45620107	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	8537735	45620107	197579266	58	2343										
TTC7A	57217	hgsc.bcm.edu	37	chr2	47249048	47249048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atggtgatcagcctcggagaGgaagccggggagttcctccc	15	11	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:47249048G>A	ENST00000319190.5	+	12	1808	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	TTC7A_ENST00000394850.2_Silent_p.E480E|TTC7A_ENST00000409245.1_Silent_p.E446E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Silent_p.E126E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	480					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCCTCGGAGAGGAAGCCGGGG	0.602																																					p.E480E		Atlas-SNP	.											.	TTC7A	80	.	0			c.G1440A						PASS	.						107	104	105					2																	47249048		2203	4300	6503	SO:0001819	synonymous_variant	57217	exon12			CGGAGAGGAAGCC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1440G>A	2.37:g.47249048G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																			.	.	none		0.602	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47249048	G	A	47249048	2	1	11	1	0	0	0	0	0	0	0	1	16709	991	35	2		2	TTC7A	2	47249048	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1628941	47249048	195950325	59	2344										
FSHR	2492	hgsc.bcm.edu	37	chr2	49247297	49247297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agacatcattctgagagatcTctctgtggagaaaaaaatat	8	6	4	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:49247297T>C	ENST00000406846.2	-	3	346	c.227A>G	c.(226-228)gAg>gGg	p.E76G	FSHR_ENST00000304421.4_Missense_Mutation_p.E76G|FSHR_ENST00000346173.3_Missense_Mutation_p.E76G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	76					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTGAGAGATCTCTCTGTGGAG	0.413									Gonadal Dysgenesis, 46 XX																												p.E76G		Atlas-SNP	.											FSHR,NS,carcinoma,-1,1	FSHR	164	1	0			c.A227G						scavenged	.						199	206	204					2																	49247297		2203	4300	6503	SO:0001583	missense	2492	exon3	Familial Cancer Database		GAGATCTCTCTGT		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.227A>G	2.37:g.49247297T>C	ENSP00000384708:p.Glu76Gly	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	152	3	0.0197368	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387418	0.61956	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.3	5.3	0.74995	.	0.403945	0.24717	N	0.036163	D	0.92922	0.7748	M	0.82716	2.605	0.80722	D	1	P;D;D	0.76494	0.847;0.997;0.999	P;D;D	0.72338	0.56;0.954;0.977	D	0.93076	0.6487	9	.	.	.	.	11.5563	0.50750	0.0:0.0:0.0:1.0	.	76;76;76	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	G	76	ENSP00000384708:E76G;ENSP00000333908:E76G;ENSP00000306780:E76G;ENSP00000415504:E76G	.	E	-	2	0	FSHR	49100801	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	4.321000	0.59209	2.217000	0.71921	0.528000	0.53228	GAG	.	.	none		0.413	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			C	49247297	T	C	49247297	3	2	11	1	0	0	0	0	1	0	0	0	6073	1551	54	3	1892	3	FSHR	2	49247297	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1998249	49247297	193952076	60	2345										
BMP10	27302	hgsc.bcm.edu	37	chr2	69093241	69093241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttcattcagttcctccttcCtctccttgtcactgctttgg	5	14	4	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:69093241C>T	ENST00000295379.1	-	2	955	c.797G>A	c.(796-798)aGg>aAg	p.R266K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	266					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCCTCCTTCCTCTCCTTGTC	0.488																																					p.R266K		Atlas-SNP	.											BMP10,NS,carcinoma,+1,1	BMP10	70	1	0			c.G797A						scavenged	.						117	100	106					2																	69093241		2203	4300	6503	SO:0001583	missense	27302	exon2			TCCTTCCTCTCCT	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.797G>A	2.37:g.69093241C>T	ENSP00000295379:p.Arg266Lys	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	226	3	0.0132743	NM_014482	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403837	0.01165	.	.	ENSG00000163217	ENST00000295379	T	0.73897	-0.79	6.07	-2.92	0.05615	.	0.563905	0.20427	N	0.092545	T	0.49218	0.1544	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.41179	-0.9523	10	0.06365	T	0.9	.	13.0709	0.59061	0.0:0.1996:0.0:0.8004	.	266	O95393	BMP10_HUMAN	K	266	ENSP00000295379:R266K	ENSP00000295379:R266K	R	-	2	0	BMP10	68946745	0.128000	0.22383	0.004000	0.12327	0.212000	0.24457	0.336000	0.19823	-0.415000	0.07484	-0.136000	0.14681	AGG	.	.	none		0.488	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		T	69093241	C	T	69093241	3	4	11	1	0	0	0	0	1	0	0	0	1457	681	24	2	481	2	BMP10	2	69093241	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	19845944	69093241	174106132	61	2346										
RETSAT	54884	hgsc.bcm.edu	37	chr2	85577909	85577909	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catgtccatgttaccttaacCagctttatatacttgtcaat	4	10	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:85577909C>A	ENST00000295802.4	-	3	703	c.591G>T	c.(589-591)ctG>ctT	p.L197L	RETSAT_ENST00000263854.6_Silent_p.L197L|RETSAT_ENST00000457495.2_Silent_p.L136L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	197					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTACCTTAACCAGCTTTATAT	0.473																																					p.L197L		Atlas-SNP	.											.	RETSAT	56	.	0			c.G591T						PASS	.						161	158	159					2																	85577909		2203	4300	6503	SO:0001819	synonymous_variant	54884	exon3			CTTAACCAGCTTT	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.591G>T	2.37:g.85577909C>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	124	46	0.370968	NM_017750	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929119	0.18131	.	.	ENSG00000042445	ENST00000409984	.	.	.	5.92	5.03	0.67393	.	.	.	.	.	T	0.70675	0.3251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70029	-0.4984	4	.	.	.	-9.9361	14.7022	0.69164	0.0:0.854:0.146:0.0	.	.	.	.	L	136	.	.	W	-	2	0	RETSAT	85431420	0.089000	0.21612	0.998000	0.56505	0.939000	0.58152	0.046000	0.14035	1.478000	0.48253	0.655000	0.94253	TGG	.	.	none		0.473	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85577909	C	A	85577909	2	1	11	1	0	0	0	0	0	0	0	1	13238	581	21	4		4	RETSAT	2	85577909	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	16484668	85577909	157621464	62	2347										
PROM2	150696	hgsc.bcm.edu	37	chr2	95953995	95953995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccacctgccagcccctctccGgagccctggacaacagccgt	9	20	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:95953995G>A	ENST00000317620.9	+	21	2414	c.2281G>A	c.(2281-2283)Gga>Aga	p.G761R	PROM2_ENST00000317668.4_Missense_Mutation_p.G761R|PROM2_ENST00000403131.2_Missense_Mutation_p.G761R|PROM2_ENST00000542147.1_Missense_Mutation_p.G712R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	761					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCCTCTCCGGAGCCCTGGA	0.622																																					p.G761R		Atlas-SNP	.											PROM2,NS,carcinoma,-1,1	PROM2	78	1	0			c.G2281A						scavenged	.						110	109	109					2																	95953995		2203	4300	6503	SO:0001583	missense	150696	exon21			CTCTCCGGAGCCC	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2281G>A	2.37:g.95953995G>A	ENSP00000318270:p.Gly761Arg	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	68	3	0.0441176	NM_001165977	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.167753	0.01660	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.58	0.453	0.16639	.	1.356780	0.04605	N	0.399145	T	0.27765	0.0683	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.11060	-1.0603	10	0.13853	T	0.58	3.5562	1.1033	0.01688	0.2652:0.1535:0.4234:0.1579	.	761	Q8N271	PROM2_HUMAN	R	761;761;761;712	ENSP00000385716:G761R;ENSP00000318520:G761R;ENSP00000318270:G761R;ENSP00000442542:G712R	ENSP00000318270:G761R	G	+	1	0	PROM2	95317722	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.021000	0.13489	0.014000	0.14944	0.655000	0.94253	GGA	.	.	none		0.622	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		A	95953995	G	A	95953995	3	1	11	1	0	0	0	0	1	0	0	0	12556	1117	39	1	2363	1	PROM2	2	95953995	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	10376086	95953995	147245378	63	2348										
CCDC138	165055	hgsc.bcm.edu	37	chr2	109463198	109463198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tacatatttttaacagcactCgactatgacatcaacattga	4	9	1	2	rs367747465		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:109463198C>T	ENST00000295124.4	+	12	1388	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	CCDC138_ENST00000412964.2_Missense_Mutation_p.S443L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	443								p.S443L(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TAACAGCACTCGACTATGACA	0.348																																					p.S443L		Atlas-SNP	.											CCDC138,rectum,carcinoma,0,1	CCDC138	49	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1328T						scavenged	.						79	82	81					2																	109463198		2203	4300	6503	SO:0001583	missense	165055	exon12			AGCACTCGACTAT	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1328C>T	2.37:g.109463198C>T	ENSP00000295124:p.Ser443Leu	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	191	3	0.0157068	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808471|2.808471	0.50421|0.50421	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000456512|ENST00000412964;ENST00000295124	.|T;T	.|0.34072	.|1.38;1.39	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.434355	.|0.23549	.|N	.|0.046989	.|T	.|0.38295	.|0.1035	L|L	0.48362|0.48362	1.52|1.52	0.43287|0.43287	D|D	0.995261|0.995261	.|P;B	.|0.45240	.|0.854;0.007	.|B;B	.|0.41466	.|0.358;0.004	.|T	.|0.05053	.|-1.0909	.|10	.|0.33141	.|T	.|0.24	-2.6465|-2.6465	20.1575|20.1575	0.98120|0.98120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443;443	.|Q96M89-2;Q96M89	.|.;CC138_HUMAN	X|L	340|443	.|ENSP00000411800:S443L;ENSP00000295124:S443L	.|ENSP00000295124:S443L	R|S	+|+	1|2	2|0	CCDC138|CCDC138	108829630|108829630	0.777000|0.777000	0.28628|0.28628	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	3.852000|3.852000	0.55934|0.55934	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CGA|TCG	.	.	alt		0.348	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		T	109463198	C	T	109463198	3	4	11	1	0	0	0	0	1	0	0	0	2772	893	31	1	1374	1	CCDC138	2	109463198	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	13509203	109463198	133736175	64	2349										
DPP10	57628	hgsc.bcm.edu	37	chr2	116257116	116257116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtgtataaaagcgagaatgGacatgtcattaaactgaata	10	4	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:116257116G>T	ENST00000410059.1	+	4	782	c.302G>T	c.(301-303)gGa>gTa	p.G101V	DPP10_ENST00000409163.1_Missense_Mutation_p.G51V|DPP10_ENST00000393147.2_Missense_Mutation_p.G105V|DPP10_ENST00000310323.8_Missense_Mutation_p.G94V|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	101						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCGAGAATGGACATGTCATT	0.294																																					p.G105V		Atlas-SNP	.											.	DPP10	415	.	0			c.G314T						PASS	.						148	143	145					2																	116257116		2203	4300	6503	SO:0001583	missense	57628	exon4			AGAATGGACATGT	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.302G>T	2.37:g.116257116G>T	ENSP00000386565:p.Gly101Val	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	134	51	0.380597	NM_001178034	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940675	0.73557	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85227	0.1030	10	0.87932	D	0	-32.1676	16.0293	0.80567	0.0:0.0:1.0:0.0	.	94;105;97;101	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	51;101;51;97;105;94;51;51	ENSP00000391092:G51V;ENSP00000386565:G101V;ENSP00000387038:G51V;ENSP00000376854:G97V;ENSP00000376855:G105V;ENSP00000309066:G94V;ENSP00000402499:G51V	ENSP00000309066:G94V	G	+	2	0	DPP10	115973586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.323000	0.72891	2.705000	0.92388	0.561000	0.74099	GGA	.	.	none		0.294	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		T	116257116	G	T	116257116	3	4	11	1	0	0	0	0	1	0	0	0	4727	1174	41	4	487	4	DPP10	2	116257116	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	6793918	116257116	126942257	65	2350										
INSIG2	51141	hgsc.bcm.edu	37	chr2	118864361	118864361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtctctcacactggctgcaCtatccattggactgtggtgg	11	11	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:118864361C>A	ENST00000245787.4	+	4	624	c.418C>A	c.(418-420)Cta>Ata	p.L140I	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	140					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTGGCTGCACTATCCATTGG	0.403																																					p.L140I		Atlas-SNP	.											INSIG2,NS,carcinoma,-1,2	INSIG2	30	2	0			c.C418A						scavenged	.						231	212	219					2																	118864361		2203	4300	6503	SO:0001583	missense	51141	exon4			GCTGCACTATCCA	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.418C>A	2.37:g.118864361C>A	ENSP00000245787:p.Leu140Ile	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	185	2	0.0108108	NM_016133	A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396683	0.62177	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.987	T	0.76107	-0.3080	9	0.41790	T	0.15	.	10.9248	0.47185	0.0:0.8581:0.0:0.1418	.	32;140	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	I	140	.	ENSP00000245787:L140I	L	+	1	2	INSIG2	118580831	0.911000	0.30947	0.997000	0.53966	0.980000	0.70556	1.852000	0.39348	1.598000	0.50083	-0.198000	0.12761	CTA	.	.	none		0.403	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		A	118864361	C	A	118864361	3	1	11	1	0	0	0	0	1	0	0	0	7766	564	20	4	428	4	INSIG2	2	118864361	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2607245	118864361	124335012	66	2351										
PTPN4	5775	hgsc.bcm.edu	37	chr2	120725435	120725435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctggaatcggaagaactgggGttcttattactatggaaaca	11	6	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:120725435G>A	ENST00000263708.2	+	26	3352	c.2581G>A	c.(2581-2583)Gtt>Att	p.V861I	PTPN4_ENST00000544261.1_Missense_Mutation_p.V494I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	861	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AAGAACTGGGGTTCTTATTAC	0.378																																					p.V861I		Atlas-SNP	.											.	PTPN4	89	.	0			c.G2581A						PASS	.						160	160	160					2																	120725435		2203	4300	6503	SO:0001583	missense	5775	exon26			ACTGGGGTTCTTA		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2581G>A	2.37:g.120725435G>A	ENSP00000263708:p.Val861Ile	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	19	0.365385	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437199|5.437199	0.96168|0.96168	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|T;T	0.29142|0.15256	1.58|2.44;2.44	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34542|0.34542	0.0901|0.0901	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|B	.|0.26876	.|0.162	.|B	.|0.32342	.|0.144	T|T	0.37407|0.37407	-0.9707|-0.9707	7|10	0.87932|0.87932	D|D	0|0	.|.	18.7366|18.7366	0.91757|0.91757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|861	.|P29074	.|PTN4_HUMAN	D|I	144|861;494	ENSP00000394706:G144D|ENSP00000263708:V861I;ENSP00000445841:V494I	ENSP00000394706:G144D|ENSP00000263708:V861I	G|V	+|+	2|1	0|0	PTPN4|PTPN4	120441905|120441905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.756000|9.756000	0.98918|0.98918	2.426000|2.426000	0.82243|0.82243	0.585000|0.585000	0.79938|0.79938	GGT|GTT	.	.	none		0.378	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120725435	G	A	120725435	3	1	11	1	0	0	0	0	1	0	0	0	12790	1261	44	2	2679	2	PTPN4	2	120725435	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1861074	120725435	122473938	67	2352										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128379623	128379623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctgtgccgagcgcctgagaCgcacctatgccaatggggtg	14	12	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:128379623C>T	ENST00000409816.2	+	26	3546	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	MYO7B_ENST00000409090.1_Missense_Mutation_p.R25C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1172C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1172C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1172	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGCCTGAGACGCACCTATGC	0.667																																					p.R1172C		Atlas-SNP	.											MYO7B_ENST00000428314,caecum,carcinoma,-1,4	MYO7B	359	4	0			c.C3514T						scavenged	.						23	23	23					2																	128379623		1735	3680	5415	SO:0001583	missense	4648	exon27			CTGAGACGCACCT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3514C>T	2.37:g.128379623C>T	ENSP00000386461:p.Arg1172Cys	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	31	5.070714	0.93950	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	4.92	4.92	0.64577	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.91566	0.7336	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94097	0.7358	10	0.87932	D	0	.	18.0998	0.89503	0.0:1.0:0.0:0.0	.	1172	Q6PIF6	MYO7B_HUMAN	C	1172;1172;25;1172;25;25	ENSP00000374175:R1172C;ENSP00000415090:R1172C;ENSP00000386461:R1172C;ENSP00000404927:R25C;ENSP00000386850:R25C	ENSP00000272666:R25C	R	+	1	0	MYO7B	128096093	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.764000	0.47613	2.250000	0.74265	0.561000	0.74099	CGC	.	.	none		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		T	128379623	C	T	128379623	3	4	11	1	0	0	0	0	1	0	0	0	10083	536	19	1	3616	1	MYO7B	2	128379623	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7654188	128379623	114819750	68	2353										
POTEF	728378	hgsc.bcm.edu	37	chr2	130877892	130877892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgcagcaggggaagcagtggCggcaccacttgcccatcttg	14	12	1	0	rs11889701	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:130877892C>T	ENST00000409914.2	-	3	596	c.197G>A	c.(196-198)cGc>cAc	p.R66H	POTEF_ENST00000357462.5_Missense_Mutation_p.R66H|POTEF_ENST00000360967.5_Missense_Mutation_p.R66H|POTEF_ENST00000361163.4_Missense_Mutation_p.R66H	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAAGCAGTGGCGGCACCACTT	0.602													.|||	37	0.00738818	0.0272	0.0	5008	,	,		15114	0.0		0.0	False		,,,				2504	0.001				p.R66H		Atlas-SNP	.											POTEF,NS,carcinoma,-1,12	POTEF	140	12	0			c.G197A						scavenged	.						91	126	114					2																	130877892		2167	4294	6461	SO:0001583	missense	728378	exon3			CAGTGGCGGCACC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.197G>A	2.37:g.130877892C>T	ENSP00000386786:p.Arg66His	Somatic	339	29	0.0855457		WXS	Illumina HiSeq	Phase_I	287	11	0.0383275	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.587100	0.00872	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.74;1.76	.	.	.	.	.	.	.	.	T	0.47469	0.1447	N	0.01109	-1.01	0.09310	N	1	D	0.56521	0.976	P	0.46629	0.522	T	0.47509	-0.9112	7	0.12766	T	0.61	.	.	.	.	.	66	A5A3E0	POTEF_HUMAN	H	66	ENSP00000350052:R66H;ENSP00000386786:R66H;ENSP00000354232:R66H;ENSP00000355012:R66H	ENSP00000350052:R66H	R	-	2	0	POTEF	130594362	0.005000	0.15991	0.077000	0.20336	0.096000	0.18686	-1.080000	0.03407	0.149000	0.19098	0.152000	0.16155	CGC	C|0.500;T|0.500	0.500	weak		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877892	C	T	130877892	3	4	11	1	0	0	0	0	1	0	0	0	12265	768	27	1	3090	1	POTEF	2	130877892	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2498269	130877892	112321481	69	2354										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	420	3	0.00714286		WXS	Illumina HiSeq	Phase_I	380	7	0.0184211	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	11	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1143792	132021684	111177689	70	2355										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141079638	141079638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caaagaaattcgcatgctaaAtccaagcatggattgggtac	9	8	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:141079638A>G	ENST00000389484.3	-	82	13505	c.12534T>C	c.(12532-12534)gaT>gaC	p.D4178D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4178	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCATGCTAAATCCAAGCATG	0.373										TSP Lung(27;0.18)																											p.D4178D	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.T12534C						PASS	.						50	53	52					2																	141079638		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon82			TGCTAAATCCAAG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12534T>C	2.37:g.141079638A>G		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	127	54	0.425197	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	a	9.034	0.988116	0.18966	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.19	1.6	0.23607	.	.	.	.	.	T	0.51517	0.1679	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	5.0496	0.14501	0.5306:0.1535:0.3159:0.0	.	.	.	.	T	410	.	.	I	-	2	0	LRP1B	140796108	0.112000	0.22096	1.000000	0.80357	0.989000	0.77384	-0.485000	0.06520	0.401000	0.25424	0.528000	0.53228	ATT	.	.	none		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141079638	A	G	141079638	2	3	11	1	0	0	0	0	0	0	0	1	8955	98	4	2		2	LRP1B	2	141079638	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	9057954	141079638	102119735	71	2356										
FMNL2	114793	hgsc.bcm.edu	37	chr2	153463872	153463872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtttgtggagaaaaacagcGctttgagaagttgatggaac	14	4	0	3	rs377497365		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:153463872G>A	ENST00000288670.9	+	10	1263	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	299	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAAAAACAGCGCTTTGAGAAG	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.0				p.R299H		Atlas-SNP	.											.	FMNL2	75	.	0			c.G896A						PASS	.	G	HIS/ARG	1,3705		0,1,1852	92	88	89		896	5.9	1	2		89	0,8204		0,0,4102	no	missense	FMNL2	NM_052905.3	29	0,1,5954	AA,AG,GG		0.0,0.027,0.0084	probably-damaging	299/1093	153463872	1,11909	1853	4102	5955	SO:0001583	missense	114793	exon10			AACAGCGCTTTGA	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.896G>A	2.37:g.153463872G>A	ENSP00000288670:p.Arg299His	Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	278	81	0.291367	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436354	0.96168	2.7E-4	0.0	ENSG00000157827	ENST00000288670	D	0.89875	-2.58	5.92	5.92	0.95590	.	0.092942	0.85682	D	0.000000	D	0.96386	0.8821	H	0.94771	3.58	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96788	0.9580	10	0.87932	D	0	.	19.9118	0.97027	0.0:0.0:1.0:0.0	.	299	Q96PY5-3	.	H	299	ENSP00000288670:R299H	ENSP00000288670:R299H	R	+	2	0	FMNL2	153172118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.809000	0.96659	0.557000	0.71058	CGC	.	.	weak		0.313	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153463872	G	A	153463872	3	1	11	1	0	0	0	0	1	0	0	0	5952	1087	38	1	934	1	FMNL2	2	153463872	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	12384234	153463872	89735501	72	2357										
PRPF40A	55660	hgsc.bcm.edu	37	chr2	153547487	153547487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtacttactgcaccagatgCtgtacctaaaaaataaaaaa	5	8	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:153547487C>T	ENST00000410080.1	-	5	875	c.334G>A	c.(334-336)Gca>Aca	p.A112T		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	139					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GCACCAGATGCTGTACCTAAA	0.254																																					p.A112T		Atlas-SNP	.											.	PRPF40A	149	.	0			c.G334A						PASS	.						15	15	15					2																	153547487		1762	4001	5763	SO:0001583	missense	55660	exon5			CAGATGCTGTACC	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.334G>A	2.37:g.153547487C>T	ENSP00000386458:p.Ala112Thr	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	85	5	0.0588235	NM_017892	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	4.111	0.018714	0.07959	.	.	ENSG00000196504	ENST00000410080;ENST00000440252;ENST00000545856;ENST00000493468	T	0.35236	1.32	4.59	-2.47	0.06442	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.24969	N	0.991671	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.33033	-0.9884	9	0.10111	T	0.7	16.2594	4.8208	0.13390	0.1543:0.3167:0.0:0.5289	.	139;112	O75400-3;E9PFS0	.;.	T	112;8;139;132	ENSP00000386458:A112T	ENSP00000386458:A112T	A	-	1	0	PRPF40A	153255733	0.088000	0.21588	0.976000	0.42696	0.886000	0.51366	-1.734000	0.01848	-0.351000	0.08249	-0.237000	0.12165	GCA	.	.	none		0.254	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		T	153547487	C	T	153547487	3	4	11	1	0	0	0	0	1	0	0	0	12571	797	28	2	2546	2	PRPF40A	2	153547487	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	83615	153547487	89651886	73	2358										
MARCH7	64844	hgsc.bcm.edu	37	chr2	160599591	160599591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtctacatcagcatcagcatCtgcgtcaccatttcaatctg	6	13	7	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:160599591C>G	ENST00000259050.4	+	3	295	c.173C>G	c.(172-174)tCt>tGt	p.S58C	MARCH7_ENST00000539065.1_Missense_Mutation_p.S58C|MARCH7_ENST00000409175.1_Missense_Mutation_p.S58C|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.S20C	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	58	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCATCAGCATCTGCGTCACCA	0.393																																					p.S58C		Atlas-SNP	.											.	MARCH7	48	.	0			c.C173G						PASS	.						99	97	98					2																	160599591		2203	4300	6503	SO:0001583	missense	64844	exon3			CAGCATCTGCGTC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.173C>G	2.37:g.160599591C>G	ENSP00000259050:p.Ser58Cys	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	143	62	0.433566	NM_022826	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	7.695	0.691842	0.15039	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037;ENST00000409591	T;T;T;T;T	0.50813	2.57;2.52;2.57;0.73;2.44	5.54	2.29	0.28610	.	0.329624	0.29964	N	0.010759	T	0.29749	0.0743	N	0.19112	0.55	0.23589	N	0.99735	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.20907	-1.0261	10	0.49607	T	0.09	-37.7217	8.7404	0.34554	0.0:0.7161:0.1278:0.1561	.	58;20;58	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	C	58;58;58;58;20	ENSP00000386830:S58C;ENSP00000442992:S58C;ENSP00000259050:S58C;ENSP00000392862:S58C;ENSP00000387238:S20C	ENSP00000259050:S58C	S	+	2	0	MARCH7	160307837	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	2.550000	0.45811	0.693000	0.31634	-0.142000	0.14014	TCT	.	.	none		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		G	160599591	C	G	160599591	3	3	11	1	0	0	0	0	1	0	0	0	9306	913	32	4	179	4	MARCH7	2	160599591	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7052104	160599591	82599782	74	2359										
SCN2A	6326	hgsc.bcm.edu	37	chr2	166245192	166245192	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgtgtcccctaccctgttcCgagtgatccgtcttgccagg	10	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:166245192C>T	ENST00000375437.2	+	27	5166	c.4876C>T	c.(4876-4878)Cga>Tga	p.R1626*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.R1626*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.R1626*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.R1626*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1626					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCCTGTTCCGAGTGATCCG	0.428																																					p.R1626X		Atlas-SNP	.											SCN2A_ENST00000375437,NS,carcinoma,0,2	SCN2A	589	2	0			c.C4876T						scavenged	.						107	108	108					2																	166245192		2203	4300	6503	SO:0001587	stop_gained	6326	exon26			CTGTTCCGAGTGA	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4876C>T	2.37:g.166245192C>T	ENSP00000364586:p.Arg1626*	Somatic	248	1	0.00403226		WXS	Illumina HiSeq	Phase_I	185	2	0.0108108	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	42	9.753121	0.99255	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8661	0.63590	0.2683:0.7317:0.0:0.0	.	.	.	.	X	1626	.	ENSP00000283256:R1626X	R	+	1	2	SCN2A	165953438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.052000	0.41316	2.751000	0.94390	0.552000	0.68991	CGA	.	.	none		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166245192	C	T	166245192	4	4	11	1	0	0	0	0	0	1	0	0	13916	644	23	1	5074	1	SCN2A	2	166245192	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5645601	166245192	76954181	75	2360										
SP5	389058	hgsc.bcm.edu	37	chr2	171572940	171572940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggctcttccacccgtggaccGccgacatgccggcgcactcg	12	18	1	0	rs3749036	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:171572940G>A	ENST00000375281.3	+	2	385	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	SP5_ENST00000487037.1_3'UTR|AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	75			A -> T (in dbSNP:rs3749036).		bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCCGTGGACCGCCGACATGCC	0.756													G|||	2195	0.438299	0.5113	0.4553	5008	,	,		7969	0.5962		0.3012	False		,,,				2504	0.3057				p.A75T		Atlas-SNP	.											.	SP5	14	.	0			c.G223A						PASS	.	G	THR/ALA	1960,2092		529,902,595	9	11	10		223	0.9	0.6	2	dbSNP_107	10	2697,5473		538,1621,1926	no	missense	SP5	NM_001003845.2	58	1067,2523,2521	AA,AG,GG		33.011,48.3712,38.1034	benign	75/399	171572940	4657,7565	2026	4085	6111	SO:0001583	missense	389058	exon2			TGGACCGCCGACA		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.223G>A	2.37:g.171572940G>A	ENSP00000364430:p.Ala75Thr	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001003845		Missense_Mutation	SNP	ENST00000375281.3	37	CCDS33322.1	943	0.4317765567765568	243	0.49390243902439024	143	0.39502762430939226	321	0.5611888111888111	236	0.3113456464379947	G	6.686	0.495106	0.12762	0.483712	0.33011	ENSG00000204335	ENST00000375281	T	0.09073	3.02	4.42	0.867	0.19085	.	0.177050	0.45867	D	0.000334	T	0.00012	0.0000	N	0.01352	-0.895	0.40457	P	0.019797999999999982	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	9	0.11485	T	0.65	.	3.3493	0.07146	0.3555:0.0:0.4543:0.1902	rs3749036	75	Q6BEB4	SP5_HUMAN	T	75	ENSP00000364430:A75T	ENSP00000364430:A75T	A	+	1	0	SP5	171281186	0.158000	0.22850	0.577000	0.28562	0.966000	0.64601	1.032000	0.30178	0.292000	0.22492	0.455000	0.32223	GCC	G|0.572;A|0.428	0.428	strong		0.756	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		A	171572940	G	A	171572940	3	1	11	1	0	0	0	0	1	0	0	0	14967	1087	38	1	229	1	SP5	2	171572940	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	5327748	171572940	71626433	76	2361										
TTN	7273	hgsc.bcm.edu	37	chr2	179428230	179428233	+	Frame_Shift_Del	DEL	TCTG	TCTG	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctgcattttcagcagcaacTctgaattcataggaatggcc							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	TCTG	TCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:179428230_179428233delTCTG	ENST00000591111.1	-	276	77927_77930	c.77703_77706delCAGA	c.(77701-77706)ttcagafs	p.FR25901fs	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.FR27542fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.FR18602fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.FR18477fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.FR18669fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.FR24974fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25901	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAGCAACTCTGAATTCATAGG	0.495																																					p.27543_27544del		Pindel,Atlas-Indel	.											.	TTN	18412	.	0			c.82627_82630del						PASS	.																																			SO:0001589	frameshift_variant	7273	exon326			.	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.77703_77706delCAGA	2.37:g.179428230_179428233delTCTG	ENSP00000465570:p.Phe25901fs	Somatic	157	.	.		WXS	Illumina HiSeq	Phase_I	108	31	0.287	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	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																				.	.	none		0.495	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179428233	TCTG	-	179428230	7	5	11	1	0	1	0	1	0	0	0	0	16732	1548	54	0	25498	0	TTN	2	179428230	Frame_Shift_Del	DEL	TCTG	TCGA-FF-8042-01A-11D-2210-10	7855290	179428230	63771143	77	2362										
GULP1	51454	hgsc.bcm.edu	37	chr2	189405948	189405948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcttcatagaatatctttttGtgcagatgataaaactgaca	7	6	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:189405948G>A	ENST00000409580.1	+	8	1016	c.302G>A	c.(301-303)tGt>tAt	p.C101Y	GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Missense_Mutation_p.C101Y|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409637.3_Missense_Mutation_p.C101Y|GULP1_ENST00000409609.1_Missense_Mutation_p.C101Y|GULP1_ENST00000409843.1_Missense_Mutation_p.C101Y|GULP1_ENST00000409830.1_Missense_Mutation_p.C101Y|GULP1_ENST00000410051.1_Missense_Mutation_p.C101Y			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	101	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATATCTTTTTGTGCAGATGAT	0.323																																					p.C101Y	Pancreas(178;563 2065 20199 42378 52815)	Atlas-SNP	.											.	GULP1	35	.	0			c.G302A						PASS	.						110	109	109					2																	189405948		2203	4300	6503	SO:0001583	missense	51454	exon7			CTTTTTGTGCAGA	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.302G>A	2.37:g.189405948G>A	ENSP00000386289:p.Cys101Tyr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	96	39	0.40625	NM_016315	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482106	0.84747	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.36	5.36	0.76844	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.996	T	0.65274	-0.6208	10	0.87932	D	0	-5.6024	18.4419	0.90669	0.0:0.0:1.0:0.0	.	101;101;101	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	Y	101	ENSP00000387144:C101Y;ENSP00000386732:C101Y;ENSP00000387013:C101Y;ENSP00000352047:C101Y;ENSP00000386289:C101Y;ENSP00000386402:C101Y;ENSP00000386867:C101Y	ENSP00000352047:C101Y	C	+	2	0	GULP1	189114193	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.813000	0.99286	2.671000	0.90904	0.555000	0.69702	TGT	.	.	none		0.323	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		A	189405948	G	A	189405948	3	1	11	1	0	0	0	0	1	0	0	0	6901	1377	48	2	320	2	GULP1	2	189405948	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9977718	189405948	53793425	78	2363										
COL5A2	1290	hgsc.bcm.edu	37	chr2	189927788	189927788	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctccaggtttcccagggtcaCcctaaagaataaatgaaact	7	11	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:189927788C>T	ENST00000374866.3	-	28	2145	c.1871G>A	c.(1870-1872)gGt>gAt	p.G624D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	624					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCAGGGTCACCCTAAAGAAT	0.368																																					p.G624D		Atlas-SNP	.											.	COL5A2	230	.	0			c.G1871A						PASS	.						97	114	108					2																	189927788		2202	4300	6502	SO:0001630	splice_region_variant	1290	exon28			GGGTCACCCTAAA	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1870-1G>A	2.37:g.189927788C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	68	8	0.117647	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342360	0.81911	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	4.74	4.74	0.60224	.	0.000000	0.49305	D	0.000156	D	0.99746	0.9899	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97117	0.9808	9	.	.	.	.	18.1082	0.89527	0.0:1.0:0.0:0.0	.	264;624	Q5PR22;P05997	.;CO5A2_HUMAN	D	624;264	ENSP00000364000:G624D	.	G	-	2	0	COL5A2	189636033	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.445000	0.80570	2.339000	0.79563	0.467000	0.42956	GGT	.	.	none		0.368	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	T	189927788	C	T	189927788	5	4	11	1	0	0	0	0	0	0	1	0	3697	521	18	2	2736	2	COL5A2	2	189927788	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	521840	189927788	53271585	79	2364										
SDPR	8436	hgsc.bcm.edu	37	chr2	192700876	192700876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcagcagcctcctctgcaaTttccccttccaccagagcgc	6	19	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:192700876T>G	ENST00000304141.4	-	2	1380	c.1051A>C	c.(1051-1053)Att>Ctt	p.I351L		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCCTCTGCAATTTCCCCTTCC	0.567																																					p.I351L		Atlas-SNP	.											.	SDPR	67	.	0			c.A1051C						PASS	.						116	113	114					2																	192700876		2203	4300	6503	SO:0001583	missense	8436	exon2			CTGCAATTTCCCC	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1051A>C	2.37:g.192700876T>G	ENSP00000305675:p.Ile351Leu	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	128	51	0.398438	NM_004657		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588786	0.28357	.	.	ENSG00000168497	ENST00000304141	T	0.62639	0.01	4.66	-2.51	0.06365	.	2.341900	0.01171	N	0.006876	T	0.40886	0.1135	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30387	-0.9980	10	0.49607	T	0.09	0.7853	5.9015	0.18970	0.0:0.3185:0.1309:0.5506	.	351	O95810	SDPR_HUMAN	L	351	ENSP00000305675:I351L	ENSP00000305675:I351L	I	-	1	0	SDPR	192409121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.388000	0.20735	-0.632000	0.05553	-0.371000	0.07208	ATT	.	.	none		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		G	192700876	T	G	192700876	3	3	11	1	0	0	0	0	1	0	0	0	13970	1493	52	5	230	5	SDPR	2	192700876	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2773088	192700876	50498497	80	2365										
SF3B1	23451	hgsc.bcm.edu	37	chr2	198270084	198270084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cattaacacttttcatagttCgatcttcagtttgcatgtgg	7	8	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:198270084C>T	ENST00000335508.6	-	10	1443	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	451	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCATAGTTCGATCTTCAGT	0.398			Mis		myelodysplastic syndrome																																p.R451Q		Atlas-SNP	.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	SF3B1,NS,carcinoma,0,1	SF3B1	1038	1	0			c.G1352A						scavenged	.						62	62	62					2																	198270084		2203	4300	6503	SO:0001583	missense	23451	exon10			ATAGTTCGATCTT	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1352G>A	2.37:g.198270084C>T	ENSP00000335321:p.Arg451Gln	Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924141	0.73213	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.66	5.66	0.87406	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	L	0.38175	1.15	0.80722	D	1	B	0.26975	0.165	B	0.20184	0.028	T	0.48399	-0.9039	9	0.33940	T	0.23	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	451	O75533	SF3B1_HUMAN	Q	451	.	ENSP00000335321:R451Q	R	-	2	0	SF3B1	197978329	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.665000	0.83852	2.827000	0.97445	0.655000	0.94253	CGA	.	.	none		0.398	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198270084	C	T	198270084	3	4	11	1	0	0	0	0	1	0	0	0	14149	884	31	1	2626	1	SF3B1	2	198270084	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5569208	198270084	44929289	81	2366										
AOX1	316	hgsc.bcm.edu	37	chr2	201499567	201499567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atatggaaacccaaagcatgCttgtcgttcccaagggagag	11	9	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:201499567C>T	ENST00000374700.2	+	21	2516	c.2275C>T	c.(2275-2277)Ctt>Ttt	p.L759F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	759					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAAAGCATGCTTGTCGTTCC	0.418																																					p.L759F		Atlas-SNP	.											AOX1,NS,carcinoma,0,1	AOX1	152	1	0			c.C2275T						scavenged	.						112	108	109					2																	201499567		2203	4300	6503	SO:0001583	missense	316	exon21			AGCATGCTTGTCG	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2275C>T	2.37:g.201499567C>T	ENSP00000363832:p.Leu759Phe	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	132	2	0.0151515	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843804	0.91197	.	.	ENSG00000138356	ENST00000374700	T	0.47869	0.83	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.81341	2.54	0.80722	D	1	B	0.29232	0.238	B	0.40009	0.316	T	0.62765	-0.6785	10	0.52906	T	0.07	-32.2832	19.3843	0.94550	0.0:1.0:0.0:0.0	.	759	Q06278	ADO_HUMAN	F	759	ENSP00000363832:L759F	ENSP00000363832:L759F	L	+	1	0	AOX1	201207812	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.545000	0.67237	2.814000	0.96858	0.591000	0.81541	CTT	.	.	none		0.418	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201499567	C	T	201499567	3	4	11	1	0	0	0	0	1	0	0	0	729	797	28	2	2357	2	AOX1	2	201499567	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3229483	201499567	41699806	82	2367										
PARD3B	117583	hgsc.bcm.edu	37	chr2	206110509	206110509	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcttctcctcagtgccagaTgaaagcaaggttcactcatt	7	11	5	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:206110509T>C	ENST00000406610.2	+	16	2355	c.2148T>C	c.(2146-2148)gaT>gaC	p.D716D	PARD3B_ENST00000349953.3_Silent_p.D716D|PARD3B_ENST00000351153.1_Silent_p.D716D|PARD3B_ENST00000358768.2_Silent_p.D654D|PARD3B_ENST00000462231.1_Silent_p.D716D	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	716					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGTGCCAGATGAAAGCAAGG	0.363																																					p.D716D		Atlas-SNP	.											.	PARD3B	314	.	0			c.T2148C						PASS	.						152	142	145					2																	206110509		1828	4090	5918	SO:0001819	synonymous_variant	117583	exon16			GCCAGATGAAAGC	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2148T>C	2.37:g.206110509T>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	169	61	0.360947	NM_205863	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				.	.	none		0.363	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		C	206110509	T	C	206110509	2	2	11	1	0	0	0	0	0	0	0	1	11444	1461	51	2		2	PARD3B	2	206110509	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	4610942	206110509	37088864	83	2368										
EEF1B2	1933	hgsc.bcm.edu	37	chr2	207024768	207024768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caacgattacctggcggacaAgagctacatcgaggggtgag	14	9	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:207024768A>G	ENST00000392222.2	+	1	440	c.65A>G	c.(64-66)aAg>aGg	p.K22R	NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.K22R|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.K22R|NDUFS1_ENST00000457011.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	22	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CTGGCGGACAAGAGCTACATC	0.682																																					p.K22R		Atlas-SNP	.											EEF1B2,colon,carcinoma,-1,1	EEF1B2	58	1	0			c.A65G						scavenged	.						40	46	44					2																	207024768		2203	4299	6502	SO:0001583	missense	1933	exon2			CGGACAAGAGCTA	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.65A>G	2.37:g.207024768A>G	ENSP00000376056:p.Lys22Arg	Somatic	163	2	0.0122699		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_021121	A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	6.084	0.383763	0.11524	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.8	1.01	0.19927	Glutathione S-transferase, C-terminal-like (2);	0.258042	0.38548	N	0.001652	T	0.12135	0.0295	N	0.05306	-0.075	0.39419	D	0.966889	B	0.06786	0.001	B	0.10450	0.005	T	0.31916	-0.9926	10	0.02654	T	1	-6.5504	5.1665	0.15088	0.7193:0.0:0.148:0.1327	.	22	P24534	EF1B_HUMAN	R	22	ENSP00000236957:K22R;ENSP00000376055:K22R;ENSP00000376056:K22R;ENSP00000407730:K22R	ENSP00000236957:K22R	K	+	2	0	EEF1B2	206733013	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.389000	0.44407	0.024000	0.15214	-0.290000	0.09829	AAG	.	.	weak		0.682	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		G	207024768	A	G	207024768	3	3	11	1	0	0	0	0	1	0	0	0	4925	72	3	3	67	3	EEF1B2	2	207024768	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	914259	207024768	36174605	84	2369										
PLEKHM3	389072	hgsc.bcm.edu	37	chr2	208795754	208795754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acggcggccagcggctctgcGtggtggtacagcatggcgtt	17	11	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:208795754G>T	ENST00000427836.2	-	5	2271	c.1782C>A	c.(1780-1782)caC>caA	p.H594Q	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.H594Q|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.H594Q	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	594					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGGCTCTGCGTGGTGGTACA	0.622																																					p.H594Q		Atlas-SNP	.											.	PLEKHM3	101	.	0			c.C1782A						PASS	.						69	75	73					2																	208795754		2024	4186	6210	SO:0001583	missense	389072	exon5			CTCTGCGTGGTGG	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1782C>A	2.37:g.208795754G>T	ENSP00000417003:p.His594Gln	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	150	66	0.44	NM_001080475	B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.33|14.33	2.504060|2.504060	0.44558|0.44558	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	D;D;D|.	0.84146|.	-1.74;-1.74;-1.81|.	5.79|5.79	-0.289|-0.289	0.12851|0.12851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55081|0.55081	0.1898|0.1898	L|L	0.46670|0.46670	1.46|1.46	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.76494|.	0.999;0.984|.	D;D|.	0.79108|.	0.992;0.921|.	T|T	0.49263|0.49263	-0.8958|-0.8958	10|5	0.87932|.	D|.	0|.	0.1349|0.1349	10.7072|10.7072	0.45962|0.45962	0.5176:0.0:0.4824:0.0|0.5176:0.0:0.4824:0.0	.|.	594;594|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	Q|S	594|346	ENSP00000417003:H594Q;ENSP00000373899:H594Q;ENSP00000400150:H594Q|.	ENSP00000373899:H594Q|.	H|R	-|-	3|1	2|0	PLEKHM3|PLEKHM3	208503999|208503999	0.897000|0.897000	0.30589|0.30589	0.964000|0.964000	0.40570|0.40570	0.034000|0.034000	0.12701|0.12701	0.063000|0.063000	0.14410|0.14410	0.036000|0.036000	0.15547|0.15547	0.460000|0.460000	0.39030|0.39030	CAC|CGC	.	.	none		0.622	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		T	208795754	G	T	208795754	3	4	11	1	0	0	0	0	1	0	0	0	12082	1136	40	4	519	4	PLEKHM3	2	208795754	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1770986	208795754	34403619	85	2370										
IKZF2	22807	hgsc.bcm.edu	37	chr2	213872764	213872764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttctcatatgttaagttcaTatcaaagtgaatatctgggt	7	6	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:213872764T>C	ENST00000434687.1	-	9	1210	c.901A>G	c.(901-903)Atg>Gtg	p.M301V	IKZF2_ENST00000342002.2_Missense_Mutation_p.M307V|IKZF2_ENST00000451136.2_Missense_Mutation_p.M229V|IKZF2_ENST00000457361.1_Missense_Mutation_p.M301V|IKZF2_ENST00000374327.4_Missense_Mutation_p.M156V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.M227V|IKZF2_ENST00000374319.4_Missense_Mutation_p.M275V|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	301					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTTAAGTTCATATCAAAGTGA	0.418																																					p.M301V		Atlas-SNP	.											IKZF2,NS,carcinoma,+2,1	IKZF2	71	1	0			c.A901G						PASS	.						63	60	61					2																	213872764		2203	4300	6503	SO:0001583	missense	22807	exon8			AGTTCATATCAAA	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.901A>G	2.37:g.213872764T>C	ENSP00000412869:p.Met301Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	110	41	0.372727	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	6.998	0.554240	0.13374	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327	T;T;T;T;T;T;T	0.13538	3.33;3.3;3.33;3.36;3.31;3.35;2.58	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.41027	1.25	0.80722	D	1	B;B;B;B;B;B	0.14438	0.0;0.0;0.01;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.0;0.005;0.003;0.0;0.001	T	0.21759	-1.0236	10	0.19147	T	0.46	-8.1552	7.3309	0.26582	0.0:0.0723:0.1458:0.7819	.	229;227;156;275;301;79	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	V	301;307;301;275;229;227;156	ENSP00000410447:M301V;ENSP00000342876:M307V;ENSP00000412869:M301V;ENSP00000363439:M275V;ENSP00000395203:M229V;ENSP00000399574:M227V;ENSP00000363447:M156V	ENSP00000342876:M307V	M	-	1	0	IKZF2	213581009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.783000	0.55409	2.220000	0.72140	0.533000	0.62120	ATG	.	.	none		0.418	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		C	213872764	T	C	213872764	3	2	11	1	0	0	0	0	1	0	0	0	7615	1406	49	2	683	2	IKZF2	2	213872764	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	5077010	213872764	29326609	86	2371										
SPHKAP	80309	hgsc.bcm.edu	37	chr2	228882763	228882763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagttgccatggagacgaccGtgtctgctaattcttccgca	10	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:228882763G>A	ENST00000392056.3	-	7	2853	c.2807C>T	c.(2806-2808)aCg>aTg	p.T936M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T936M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	936	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T936R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGACGACCGTGTCTGCTAA	0.473																																					p.T936M		Atlas-SNP	.											SPHKAP_ENST00000392056,NS,carcinoma,0,2	SPHKAP	750	2	2	Substitution - Missense(2)	lung(2)	c.C2807T						scavenged	.						177	159	165					2																	228882763		2203	4300	6503	SO:0001583	missense	80309	exon7			ACGACCGTGTCTG		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2807C>T	2.37:g.228882763G>A	ENSP00000375909:p.Thr936Met	Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	159	68	0.427673	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530106	0.45073	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.26067	1.78;1.76	6.08	5.18	0.71444	.	0.044191	0.85682	N	0.000000	T	0.30916	0.0780	L	0.32530	0.975	0.58432	D	0.999993	D;D	0.67145	0.996;0.996	P;P	0.52881	0.462;0.712	T	0.03453	-1.1035	10	0.52906	T	0.07	.	13.6707	0.62422	0.0763:0.0:0.9237:0.0	.	936;936	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	936	ENSP00000375909:T936M;ENSP00000339886:T936M	ENSP00000339886:T936M	T	-	2	0	SPHKAP	228591007	1.000000	0.71417	0.897000	0.35233	0.273000	0.26683	7.275000	0.78548	1.520000	0.48965	0.655000	0.94253	ACG	.	.	none		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228882763	G	A	228882763	3	1	11	1	0	0	0	0	1	0	0	0	15047	1145	40	1	2319	1	SPHKAP	2	228882763	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	15009999	228882763	14316610	87	2372										
NCL	4691	hgsc.bcm.edu	37	chr2	232326352	232326352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgctttcatcgctgctggtTcaatttcatcttcatcctca	5	13	6	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:232326352T>C	ENST00000322723.4	-	3	752	c.512A>G	c.(511-513)gAa>gGa	p.E171G	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	171	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CGCTGCTGGTTCAATTtcatc	0.502																																					p.E171G		Atlas-SNP	.											NCL,NS,carcinoma,-1,1	NCL	80	1	0			c.A512G						scavenged	.						402	257	306					2																	232326352		2203	4300	6503	SO:0001583	missense	4691	exon3			GCTGGTTCAATTT		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.512A>G	2.37:g.232326352T>C	ENSP00000318195:p.Glu171Gly	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	220	4	0.0181818	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869085	0.51588	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652	T;T;T	0.68025	2.05;-0.3;-0.3	5.34	5.34	0.76211	.	0.484707	0.24730	N	0.036062	T	0.62588	0.2440	L	0.54323	1.7	0.25572	N	0.986886	B	0.26635	0.155	B	0.25405	0.06	T	0.60136	-0.7322	10	0.59425	D	0.04	-18.3082	13.3181	0.60419	0.0:0.0:0.0:1.0	.	171	P19338	NUCL_HUMAN	G	171;113;171;155;155	ENSP00000318195:E171G;ENSP00000401620:E155G;ENSP00000392747:E155G	ENSP00000318195:E171G	E	-	2	0	NCL	232034596	1.000000	0.71417	0.754000	0.31244	0.589000	0.36550	3.207000	0.51106	2.035000	0.60131	0.454000	0.30748	GAA	.	.	none		0.502	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232326352	T	C	232326352	3	2	11	1	0	0	0	0	1	0	0	0	10226	1783	62	2	1668	2	NCL	2	232326352	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	3443589	232326352	10873021	88	2373										
NMUR1	10316	hgsc.bcm.edu	37	chr2	232389989	232389989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagcacggggttggccgccGagcccaggtagaagaagatg	17	9	0	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:232389989G>A	ENST00000305141.4	-	3	1179	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	349					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTTGGCCGCCGAGCCCAGGTA	0.647																																					p.S349L		Atlas-SNP	.											NMUR1,right_lower_lobe,carcinoma,+1,1	NMUR1	46	1	0			c.C1046T						scavenged	.						71	67	68					2																	232389989		2203	4300	6503	SO:0001583	missense	10316	exon3			GCCGCCGAGCCCA	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1046C>T	2.37:g.232389989G>A	ENSP00000305877:p.Ser349Leu	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	196	2	0.0102041	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487791	0.64074	.	.	ENSG00000171596	ENST00000305141	T	0.79554	-1.28	4.79	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	H	0.98965	4.385	0.53688	D	0.999972	D	0.89917	1.0	D	0.85130	0.997	D	0.91805	0.5455	10	0.72032	D	0.01	-9.2674	8.6406	0.33974	0.0793:0.0:0.7692:0.1515	.	349	Q9HB89	NMUR1_HUMAN	L	349	ENSP00000305877:S349L	ENSP00000305877:S349L	S	-	2	0	NMUR1	232098233	1.000000	0.71417	0.370000	0.25965	0.333000	0.28666	4.733000	0.62036	0.641000	0.30601	0.555000	0.69702	TCG	.	.	none		0.647	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		A	232389989	G	A	232389989	3	1	11	1	0	0	0	0	1	0	0	0	10506	1059	37	1	238	1	NMUR1	2	232389989	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	63637	232389989	10809384	89	2374										
UGT1A9	54600	hgsc.bcm.edu	37	chr2	234580967	234580967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aattgcaggagtttgtttaaAgacaaaaaattagtagaata	8	2	0	2	rs28946876	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.K129K			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																					p.K129K		Atlas-SNP	.											UGT1A9,colon,carcinoma,0,1	UGT1A9	79	1	0			c.A387G						scavenged	.						99	101	101					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600	exon1			GTTTAAAGACAAA	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G		Somatic	119	2	0.0168067		WXS	Illumina HiSeq	Phase_I	117	9	0.0769231	NM_021027	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																			.	.	alt		0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234580967	A	G	234580967	2	3	11	1	0	0	0	0	0	0	0	1	16949	69	3	3		3	UGT1A9	2	234580967	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	2190978	234580967	8618406	90	2375										
UGT1A9	54600	hgsc.bcm.edu	37	chr2	234581002	234581002	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agaatacttaaaggagagttCttttgatgcagtgtttctcg	10	5	2	3	rs76167146	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:234581002C>G	ENST00000354728.4	+	1	504	c.422C>G	c.(421-423)tCt>tGt	p.S141C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.S141C			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	141					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAGGAGAGTTCTTTTGATGCA	0.358																																					p.S141C		Atlas-SNP	.											UGT1A9,NS,carcinoma,0,1	UGT1A9	79	1	0			c.C422G						scavenged	.						125	125	125					2																	234581002		2203	4300	6503	SO:0001583	missense	54600	exon1			AGAGTTCTTTTGA	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.422C>G	2.37:g.234581002C>G	ENSP00000346768:p.Ser141Cys	Somatic	117	3	0.025641		WXS	Illumina HiSeq	Phase_I	115	10	0.0869565	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282927	0.10458	.	.	ENSG00000241119	ENST00000354728	T	0.62639	0.01	3.41	3.41	0.39046	.	.	.	.	.	T	0.61375	0.2342	M	0.81942	2.565	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.58036	-0.7707	9	0.66056	D	0.02	.	6.3779	0.21517	0.334:0.5079:0.1581:0.0	.	141;141	Q5DSZ5;O60656	.;UD19_HUMAN	C	141	ENSP00000346768:S141C	ENSP00000346768:S141C	S	+	2	0	UGT1A9	234245741	0.000000	0.05858	0.866000	0.34008	0.471000	0.32888	0.356000	0.20181	1.907000	0.55213	0.440000	0.28878	TCT	C|0.943;G|0.057	0.057	strong		0.358	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234581002	C	G	234581002	3	3	11	1	0	0	0	0	1	0	0	0	16949	913	32	4	424	4	UGT1A9	2	234581002	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	35	234581002	8618371	91	2376										
UGT1A3	54659	hgsc.bcm.edu	37	chr2	234638243	234638243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acagaccccgttaacctctgCgcggcagtgctggctaagta	11	13	1	1	rs375083511		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:234638243C>T	ENST00000482026.1	+	1	490	c.471C>T	c.(469-471)tgC>tgT	p.C157C	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.C157C			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	157					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TTAACCTCTGCGCGGCAGTGC	0.458																																					p.C157C		Atlas-SNP	.											.	UGT1A3	91	.	0			c.C471T						PASS	.						187	194	191					2																	234638243		2203	4300	6503	SO:0001819	synonymous_variant	54659	exon1			CCTCTGCGCGGCA	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.471C>T	2.37:g.234638243C>T		Somatic	277	1	0.00361011		WXS	Illumina HiSeq	Phase_I	258	105	0.406977	NM_019093	B8K287	Silent	SNP	ENST00000482026.1	37	CCDS2509.1																																																																																			.	.	weak		0.458	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		T	234638243	C	T	234638243	2	4	11	1	0	0	0	0	0	0	0	1	16943	776	27	1		1	UGT1A3	2	234638243	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	57241	234638243	8561130	92	2377										
AGAP1	116987	hgsc.bcm.edu	37	chr2	236653407	236653407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gatgaaataagtttccagacCgtttaccactactacagtcg	7	10	0	2	rs553037277		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:236653407C>T	ENST00000304032.8	+	5	1042	c.462C>T	c.(460-462)acC>acT	p.T154T	AGAP1_ENST00000428334.2_5'Flank|AGAP1_ENST00000409538.1_Silent_p.T419T|AGAP1_ENST00000336665.5_Silent_p.T154T|AGAP1_ENST00000409457.1_Silent_p.T154T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	154	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTTTCCAGACCGTTTACCACT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18907	0.001		0.0	False		,,,				2504	0.0				p.T154T		Atlas-SNP	.											AGAP1,NS,carcinoma,0,1	AGAP1	95	1	0			c.C462T						scavenged	.						143	128	133					2																	236653407		2203	4300	6503	SO:0001819	synonymous_variant	116987	exon5			CCAGACCGTTTAC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.462C>T	2.37:g.236653407C>T		Somatic	304	1	0.00328947		WXS	Illumina HiSeq	Phase_I	274	3	0.0109489	NM_014914	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1																																																																																			.	.	none		0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		T	236653407	C	T	236653407	2	4	11	1	0	0	0	0	0	0	0	1	366	639	23	1		1	AGAP1	2	236653407	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2015164	236653407	6545966	93	2378										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238688143	238688143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcgtctggaaaaaatgaaaGcaaatcggagtgcactcttg	11	7	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr2:238688143G>A	ENST00000308482.9	+	24	1960	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	477					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAAAATGAAAGCAAATCGGAG	0.493																																					p.A631T		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.G1891A						PASS	.						76	71	72					2																	238688143		1568	3582	5150	SO:0001583	missense	9208	exon24			ATGAAAGCAAATC	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1891G>A	2.37:g.238688143G>A	ENSP00000310109:p.Ala631Thr	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	55	24	0.436364	NM_001137550	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	CCDS46551.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031177	0.54790	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.48201	0.82	4.85	4.85	0.62838	.	.	.	.	.	T	0.41696	0.1170	L	0.42245	1.32	0.80722	D	1	B;P	0.48503	0.298;0.911	B;B	0.39027	0.178;0.288	T	0.44205	-0.9343	9	0.45353	T	0.12	.	17.3552	0.87334	0.0:0.0:1.0:0.0	.	385;631	B4DPC0;E9PGZ2	.;.	T	631;621	ENSP00000310109:A631T	ENSP00000310109:A631T	A	+	1	0	LRRFIP1	238352882	1.000000	0.71417	0.987000	0.45799	0.618000	0.37518	4.253000	0.58791	2.409000	0.81822	0.563000	0.77884	GCA	.	.	none		0.493	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		A	238688143	G	A	238688143	3	1	11	1	0	0	0	0	1	0	0	0	9027	971	34	2	3597	2	LRRFIP1	2	238688143	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2034736	238688143	4511230	94	2379										
IRAK2	3656	hgsc.bcm.edu	37	chr3	10251272	10251272	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccatagtccctcctttccaGggtcctctccagccagagcc	7	19	1	1	rs140330791		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:10251272G>A	ENST00000256458.4	+	4	514		c.e4-1			NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2						activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CTCCTTTCCAGGGTCCTCTCC	0.592																																					.		Atlas-SNP	.											IRAK2_ENST00000256458,caecum,carcinoma,-1,2	IRAK2	113	2	0			c.425-1G>A						PASS	.						125	134	131					3																	10251272		2203	4300	6503	SO:0001630	splice_region_variant	3656	exon4			TTTCCAGGGTCCT	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.425-1G>A	3.37:g.10251272G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	68	14	0.205882	NM_001570	B4DQZ6|Q08AG6|Q5K546	Splice_Site	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	9.512	1.106048	0.20632	.	.	ENSG00000134070	ENST00000256458	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9411	0.58345	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRAK2	10226272	0.977000	0.34250	0.969000	0.41365	0.014000	0.08584	3.911000	0.56378	2.181000	0.69327	0.563000	0.77884	.	G|1.000;C|0.000	.	alt		0.592	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		Intron	A	10251272	G	A	10251272	5	1	11	1	0	0	0	0	0	0	1	0	7823	1014	35	2	438	2	IRAK2	3	10251272	Splice_Site	SNP	G	TCGA-FF-8042-01A-11D-2210-10		10251272	187771158	95	2380										
PPARG	5468	hgsc.bcm.edu	37	chr3	12475443	12475443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccattgaagacattcaagaCaacctgctacaagccctgga	7	13	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:12475443C>A	ENST00000287820.6	+	7	1438	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.D411E|PPARG_ENST00000397026.2_Missense_Mutation_p.D417E|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.D411E|PPARG_ENST00000397012.2_Missense_Mutation_p.D411E|PPARG_ENST00000309576.6_Missense_Mutation_p.D411E	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	439	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	ACATTCAAGACAACCTGCTAC	0.507			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																														p.D439E		Atlas-SNP	.		Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	.	PPARG	49	.	0			c.C1317A						PASS	.						104	100	102					3																	12475443		2203	4300	6503	SO:0001583	missense	5468	exon7			TCAAGACAACCTG	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1317C>A	3.37:g.12475443C>A	ENSP00000287820:p.Asp439Glu	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	287	61	0.212544	NM_015869	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	2.364	-0.345921	0.05208	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.61	2.41	0.29592	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.154798	0.56097	D	0.000021	T	0.79747	0.4499	N	0.01188	-0.97	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.72513	-0.4270	10	0.02654	T	1	.	4.3276	0.11048	0.1297:0.4992:0.2553:0.1158	.	439	P37231	PPARG_HUMAN	E	411;411;411;411;417;439	ENSP00000380205:D411E;ENSP00000312472:D411E;ENSP00000380210:D411E;ENSP00000380207:D411E;ENSP00000380221:D417E;ENSP00000287820:D439E	ENSP00000287820:D439E	D	+	3	2	PPARG	12450443	0.988000	0.35896	1.000000	0.80357	0.933000	0.57130	0.263000	0.18478	0.724000	0.32296	0.650000	0.86243	GAC	.	.	none		0.507	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		A	12475443	C	A	12475443	3	1	11	1	0	0	0	0	1	0	0	0	12299	477	17	4	1343	4	PPARG	3	12475443	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2224171	12475443	185546987	96	2381										
MKRN2	23609	hgsc.bcm.edu	37	chr3	12610409	12610409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtgtgtcgggaaggaagtcAgtgcctattctcacatgact	12	8	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:12610409A>G	ENST00000170447.7	+	2	199	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	MKRN2_ENST00000448482.1_Missense_Mutation_p.Q21R|MKRN2_ENST00000411987.1_Intron	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	21					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GAAGGAAGTCAGTGCCTATTC	0.453																																					p.Q21R		Atlas-SNP	.											.	MKRN2	32	.	0			c.A62G						PASS	.						203	170	181					3																	12610409		2203	4300	6503	SO:0001583	missense	23609	exon2			GAAGTCAGTGCCT		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.62A>G	3.37:g.12610409A>G	ENSP00000170447:p.Gln21Arg	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	172	42	0.244186	NM_014160	A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928178	0.34002	.	.	ENSG00000075975	ENST00000170447;ENST00000448482	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	Zinc finger, CCCH-type (2);	0.276343	0.31859	N	0.006945	T	0.14570	0.0352	N	0.01352	-0.895	0.28154	N	0.929267	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18840	-1.0324	10	0.12430	T	0.62	.	8.7215	0.34443	0.8586:0.0:0.1414:0.0	.	21;21	C9J494;Q9H000	.;MKRN2_HUMAN	R	21	ENSP00000170447:Q21R;ENSP00000397983:Q21R	ENSP00000170447:Q21R	Q	+	2	0	MKRN2	12585409	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.757000	0.47557	2.333000	0.79357	0.482000	0.46254	CAG	.	.	none		0.453	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		G	12610409	A	G	12610409	3	3	11	1	0	0	0	0	1	0	0	0	9607	188	7	3	68	3	MKRN2	3	12610409	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	134966	12610409	185412021	97	2382										
RAF1	5894	hgsc.bcm.edu	37	chr3	12627284	12627284	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aattttcactgttaagccttCatggagaaatatatctcaat	5	7	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:12627284C>T	ENST00000251849.4	-	14	1871	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	RAF1_ENST00000534997.1_Missense_Mutation_p.E263K|RAF1_ENST00000442415.2_Missense_Mutation_p.E498K|RAF1_ENST00000542177.1_Missense_Mutation_p.E397K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	478	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAGCCTTCATGGAGAAAT	0.388			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.E478K		Atlas-SNP	.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	RAF1,NS,lymphoid_neoplasm,0,2	RAF1	66	2	0			c.G1432A						PASS	.						99	98	98					3																	12627284		2203	4300	6503	SO:0001583	missense	5894	exon14	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	AGCCTTCATGGAG	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1432G>A	3.37:g.12627284C>T	ENSP00000251849:p.Glu478Lys	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	81	16	0.197531	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763115	0.96906	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.26	5.26	0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	N	0.17872	0.535	0.80722	D	1	D;P;D	0.53619	0.96;0.762;0.961	D;P;D	0.68039	0.91;0.893;0.955	D	0.87465	0.2410	10	0.87932	D	0	.	19.0661	0.93110	0.0:1.0:0.0:0.0	.	397;263;478	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	K	478;498;357;263;397	ENSP00000251849:E478K;ENSP00000401888:E498K;ENSP00000398591:E357K;ENSP00000441186:E263K;ENSP00000443567:E397K	ENSP00000251849:E478K	E	-	1	0	RAF1	12602284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.746000	0.94184	0.655000	0.94253	GAA	.	.	none		0.388	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		T	12627284	C	T	12627284	3	4	11	1	0	0	0	0	1	0	0	0	13002	835	29	2	530	2	RAF1	3	12627284	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	16875	12627284	185395146	98	2383										
THRB	7068	hgsc.bcm.edu	37	chr3	24231565	24231565	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctaataaaaatctggttacCtttacatttcttctcctccg	4	11	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:24231565C>T	ENST00000356447.4	-	4	567	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	THRB_ENST00000416420.1_Splice_Site_p.G95R|THRB_ENST00000396671.2_Splice_Site_p.G95R	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	95	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ATCTGGTTACCTTTACATTTC	0.393																																					p.G95R	Melanoma(21;896 1043 15021 37958)	Atlas-SNP	.											.	THRB	52	.	0			c.G283A						PASS	.						159	151	154					3																	24231565		2203	4300	6503	SO:0001630	splice_region_variant	7068	exon4			GGTTACCTTTACA		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.283+1G>A	3.37:g.24231565C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	26	0.252427	NM_000461	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612710	0.66672	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96745	-3.3;-3.3;-3.3;-4.11	6.07	6.07	0.98685	.	.	.	.	.	D	0.96765	0.8944	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.97177	0.9848	9	0.72032	D	0.01	.	18.8399	0.92180	0.0:1.0:0.0:0.0	.	95	P10828	THB_HUMAN	R	95;95;95;64;95;95;95;95;95	ENSP00000379904:G95R;ENSP00000348827:G95R;ENSP00000414444:G95R;ENSP00000414100:G64R	ENSP00000348827:G95R	G	-	1	0	THRB	24206569	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.956000	0.63645	2.885000	0.99019	0.655000	0.94253	GGG	.	.	none		0.393	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	Missense_Mutation	T	24231565	C	T	24231565	5	4	11	1	0	0	0	0	0	0	1	0	15872	695	24	2	1130	2	THRB	3	24231565	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11604281	24231565	173790865	99	2384										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27424644	27424644	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcataaagtcatatctcacCtatattttagggccttgact	6	9	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:27424644C>A	ENST00000295736.5	-	24	3633	c.3563G>T	c.(3562-3564)aGt>aTt	p.S1188I	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Splice_Site_p.S1184I|SLC4A7_ENST00000455077.1_Splice_Site_p.S1069I|SLC4A7_ENST00000446700.1_Splice_Site_p.S1180I|SLC4A7_ENST00000454389.1_Splice_Site_p.S1197I|SLC4A7_ENST00000428386.1_Splice_Site_p.S1064I|SLC4A7_ENST00000435667.2_Splice_Site_p.S1073I|SLC4A7_ENST00000437179.1_Splice_Site_p.S1069I|SLC4A7_ENST00000445684.1_Splice_Site_p.S1184I|SLC4A7_ENST00000388777.4_Splice_Site_p.S738I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1188					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CATATCTCACCTATATTTTAG	0.333																																					p.S1188I		Atlas-SNP	.											.	SLC4A7	119	.	0			c.G3563T						PASS	.						100	97	98					3																	27424644		2203	4300	6503	SO:0001630	splice_region_variant	9497	exon24			TCTCACCTATATT	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3563+1G>T	3.37:g.27424644C>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	109	22	0.201835	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446651	0.63178	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777	T;T;T;T;T;T;T;T;T;T;T	0.80994	-1.44;-1.24;-1.25;-1.13;-1.21;-1.25;-1.32;-1.16;-1.32;-1.16;-1.44	5.41	5.41	0.78517	.	0.254953	0.42964	D	0.000621	D	0.85737	0.5766	L	0.39898	1.24	0.80722	D	1	D;D;D;P;B;B;D;D;B	0.67145	0.996;0.99;0.996;0.543;0.048;0.001;0.994;0.996;0.002	D;D;D;B;B;B;D;D;B	0.74348	0.974;0.962;0.974;0.059;0.017;0.009;0.983;0.974;0.006	D	0.84259	0.0482	9	.	.	.	.	18.784	0.91946	0.0:1.0:0.0:0.0	.	1184;1069;1180;1184;1197;738;1064;1188;1069	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	I	739;1188;1064;1197;1184;1069;1180;1069;1184;1073;738	ENSP00000411031:S739I;ENSP00000295736:S1188I;ENSP00000416368:S1064I;ENSP00000390394:S1197I;ENSP00000414797:S1184I;ENSP00000394252:S1069I;ENSP00000406605:S1180I;ENSP00000407382:S1069I;ENSP00000406804:S1184I;ENSP00000395336:S1073I;ENSP00000373429:S738I	.	S	-	2	0	SLC4A7	27399648	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.587000	0.67510	2.509000	0.84616	0.650000	0.86243	AGT	.	.	none		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	Missense_Mutation	A	27424644	C	A	27424644	5	1	11	1	0	0	0	0	0	0	1	0	14658	695	24	4	89	4	SLC4A7	3	27424644	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3193079	27424644	170597786	100	2385										
ARPP21	10777	hgsc.bcm.edu	37	chr3	35758809	35758809	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtaggctcttggaagacagtAacatatgcaatgagacctat	10	7	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:35758809A>T	ENST00000187397.4	+	13	1411	c.955A>T	c.(955-957)Aac>Tac	p.N319Y	ARPP21_ENST00000417925.1_Missense_Mutation_p.N285Y|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Missense_Mutation_p.N285Y|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	319					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAAGACAGTAACATATGCAA	0.333																																					p.N319Y		Atlas-SNP	.											.	ARPP21	153	.	0			c.A955T						PASS	.						170	172	171					3																	35758809		2203	4299	6502	SO:0001583	missense	10777	exon13			GACAGTAACATAT	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.955A>T	3.37:g.35758809A>T	ENSP00000187397:p.Asn319Tyr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	120	37	0.308333	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670639	0.47781	.	.	ENSG00000172995	ENST00000458225;ENST00000187397;ENST00000417925;ENST00000425289	T;T;T	0.24723	1.89;1.84;1.89	5.45	4.27	0.50696	.	0.343723	0.33110	N	0.005261	T	0.15262	0.0368	N	0.08118	0	0.80722	D	1	P;P	0.44090	0.826;0.558	B;B	0.42653	0.394;0.107	T	0.06041	-1.0849	10	0.72032	D	0.01	-10.8417	10.3625	0.44003	0.8283:0.1717:0.0:0.0	.	285;319	Q9UBL0-3;Q9UBL0	.;ARP21_HUMAN	Y	285;319;285;90	ENSP00000414351:N285Y;ENSP00000187397:N319Y;ENSP00000412326:N285Y	ENSP00000187397:N319Y	N	+	1	0	ARPP21	35733813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.073000	0.50057	0.882000	0.36016	0.528000	0.53228	AAC	.	.	none		0.333	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35758809	A	T	35758809	3	4	11	1	0	0	0	0	1	0	0	0	978	362	13	5	1010	5	ARPP21	3	35758809	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	8334165	35758809	162263621	101	2386										
TTC21A	199223	hgsc.bcm.edu	37	chr3	39174704	39174704	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtacagtcttataaggatgtCttctcctacttgccaactga	7	10	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:39174704C>A	ENST00000431162.2	+	20	2879	c.2745C>A	c.(2743-2745)gtC>gtA	p.V915V	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Silent_p.V916V|TTC21A_ENST00000440121.1_Silent_p.V867V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	915										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATAAGGATGTCTTCTCCTACT	0.507																																					p.V915V		Atlas-SNP	.											.	TTC21A	96	.	0			c.C2745A						PASS	.						86	88	87					3																	39174704		2044	4192	6236	SO:0001819	synonymous_variant	199223	exon20			GGATGTCTTCTCC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2745C>A	3.37:g.39174704C>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	108	34	0.314815	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	CCDS46800.1																																																																																			.	.	none		0.507	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39174704	C	A	39174704	2	1	11	1	0	0	0	0	0	0	0	1	16684	900	32	4		4	TTC21A	3	39174704	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3415895	39174704	158847726	102	2387										
TRAK1	22906	hgsc.bcm.edu	37	chr3	42264607	42264607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgtgtggctgttgaaggagcGgggcatttctgctgccgtgt	17	8	1	1	rs537037086		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:42264607G>A	ENST00000327628.5	+	16	2640	c.2240G>A	c.(2239-2241)cGg>cAg	p.R747Q	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R689Q|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	747					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TTGAAGGAGCGGGGCATTTCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15086	0.001		0.0	False		,,,				2504	0.0				p.R747Q	GBM(44;195 884 22595 31865 41850)	Atlas-SNP	.											.	TRAK1	188	.	0			c.G2240A						PASS	.						46	56	53					3																	42264607		2038	4177	6215	SO:0001583	missense	22906	exon16			AGGAGCGGGGCAT		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2240G>A	3.37:g.42264607G>A	ENSP00000328998:p.Arg747Gln	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	118	28	0.237288	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125799	0.77436	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.53206	0.63;0.63	5.32	4.45	0.53987	Trafficking kinesin-binding protein domain (1);	0.067564	0.56097	D	0.000026	T	0.44117	0.1278	L	0.41492	1.28	0.80722	D	1	D;P	0.53462	0.96;0.904	P;P	0.46629	0.522;0.522	T	0.34004	-0.9846	10	0.40728	T	0.16	.	12.8284	0.57733	0.0787:0.0:0.9213:0.0	.	689;747	C9JC32;Q9UPV9	.;TRAK1_HUMAN	Q	747;726;689	ENSP00000328998:R747Q;ENSP00000379478:R689Q	ENSP00000328998:R747Q	R	+	2	0	TRAK1	42239611	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.267000	0.51577	1.267000	0.44247	0.591000	0.81541	CGG	.	.	none		0.637	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42264607	G	A	42264607	3	1	11	1	0	0	0	0	1	0	0	0	16446	1116	39	1	2690	1	TRAK1	3	42264607	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	3089903	42264607	155757823	103	2388										
KBTBD5	131377	hgsc.bcm.edu	37	chr3	42728044	42728044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcctcaatgacaccctgcgcTtcggcatgttcctgcaggat	9	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:42728044T>C	ENST00000287777.4	+	1	1034	c.934T>C	c.(934-936)Ttc>Ctc	p.F312L		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	312					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CACCCTGCGCTTCGGCATGTT	0.572																																					p.F312L		Atlas-SNP	.											KBTBD5,NS,carcinoma,-2,1	.	.	1	0			c.T934C						scavenged	.						158	154	155					3																	42728044		2203	4300	6503	SO:0001583	missense	131377	exon1			CTGCGCTTCGGCA	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.934T>C	3.37:g.42728044T>C	ENSP00000287777:p.Phe312Leu	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	240	3	0.0125	NM_152393	Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321161	0.60634	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.70749	-0.51	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	L	0.52126	1.63	0.80722	D	1	B	0.20052	0.041	B	0.15484	0.013	T	0.60026	-0.7343	10	0.22706	T	0.39	.	14.8619	0.70387	0.0:0.0:0.0:1.0	.	312	Q2TBA0	KBTB5_HUMAN	L	312;57	ENSP00000287777:F312L	ENSP00000287777:F312L	F	+	1	0	KBTBD5	42703048	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	6.289000	0.72696	1.937000	0.56155	0.533000	0.62120	TTC	.	.	none		0.572	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		C	42728044	T	C	42728044	3	2	11	1	0	0	0	0	1	0	0	0	7996	1609	56	3	936	3	KBTBD5	3	42728044	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	463437	42728044	155294386	104	2389										
SNRK	54861	hgsc.bcm.edu	37	chr3	43345043	43345043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtcttaatgaagacttggcCaagaagtattttgctcagat	10	6	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:43345043C>T	ENST00000296088.7	+	3	652	c.348C>T	c.(346-348)gcC>gcT	p.A116A	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Silent_p.A116A|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Silent_p.A116A	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGACTTGGCCAAGAAGTATT	0.363																																					p.A116A		Atlas-SNP	.											.	SNRK	118	.	0			c.C348T						PASS	.						76	73	73					3																	43345043		1849	4090	5939	SO:0001819	synonymous_variant	54861	exon3			CTTGGCCAAGAAG	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.348C>T	3.37:g.43345043C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	58	22	0.37931	NM_017719		Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																			.	.	none		0.363	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		T	43345043	C	T	43345043	2	4	11	1	0	0	0	0	0	0	0	1	14851	581	21	2		2	SNRK	3	43345043	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	616999	43345043	154677387	105	2390										
CCR3	1232	hgsc.bcm.edu	37	chr3	46307515	46307515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catgctggtgacagaggtgaTcgcctactcccactgctgca	11	13	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:46307515T>G	ENST00000357422.2	+	4	1409	c.866T>G	c.(865-867)aTc>aGc	p.I289S	CCR3_ENST00000395940.2_Missense_Mutation_p.I289S|CCR3_ENST00000541018.1_Missense_Mutation_p.I289S|CCR3_ENST00000545097.1_Missense_Mutation_p.I310S|CCR3_ENST00000395942.2_Missense_Mutation_p.I289S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	289					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACAGAGGTGATCGCCTACTCC	0.517																																					p.I310S		Atlas-SNP	.											.	CCR3	52	.	0			c.T929G						PASS	.						125	105	112					3																	46307515		2203	4300	6503	SO:0001583	missense	1232	exon3			AGGTGATCGCCTA	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.866T>G	3.37:g.46307515T>G	ENSP00000350003:p.Ile289Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	142	45	0.316901	NM_178328	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.881031	0.72294	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.272597	0.28236	N	0.016084	T	0.73032	0.3535	H	0.97103	3.94	0.58432	D	0.999995	D;D	0.67145	0.987;0.996	D;D	0.72625	0.956;0.978	T	0.83140	-0.0109	10	0.87932	D	0	.	16.0235	0.80516	0.0:0.0:0.0:1.0	.	310;289	F5GWL6;P51677	.;CCR3_HUMAN	S	289;310;289;289;289	ENSP00000350003:I289S;ENSP00000441600:I310S;ENSP00000440097:I289S;ENSP00000379271:I289S;ENSP00000379273:I289S	ENSP00000350003:I289S	I	+	2	0	CCR3	46282519	1.000000	0.71417	0.954000	0.39281	0.493000	0.33554	8.036000	0.88901	2.177000	0.69029	0.533000	0.62120	ATC	.	.	none		0.517	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			G	46307515	T	G	46307515	3	3	11	1	0	0	0	0	1	0	0	0	2942	1435	50	5	935	5	CCR3	3	46307515	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2962472	46307515	151714915	106	2391										
BSN	8927	hgsc.bcm.edu	37	chr3	49692749	49692749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	actggcaccttccacccggcCcccagtgtgcctgagaagag	11	16	0	2	rs185582385	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:49692749C>T	ENST00000296452.4	+	5	5874	c.5760C>T	c.(5758-5760)gcC>gcT	p.A1920A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1920					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)		TCCACCCGGCCCCCAGTGTGC	0.637													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19178	0.0		0.001	False		,,,				2504	0.0				p.A1920A		Atlas-SNP	.											.	BSN	272	.	0			c.C5760T						PASS	.						40	40	40					3																	49692749		2203	4299	6502	SO:0001819	synonymous_variant	8927	exon5			CCCGGCCCCCAGT	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.5760C>T	3.37:g.49692749C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	254	68	0.267717	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			C|0.999;T|0.001	0.001	strong		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49692749	C	T	49692749	2	4	11	1	0	0	0	0	0	0	0	1	1530	610	22	2		2	BSN	3	49692749	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3385234	49692749	148329681	107	2392										
BSN	8927	hgsc.bcm.edu	37	chr3	49701983	49701983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gagcaagctggcaaactgacGgaaggtatgcactgcctgca	13	10	0	1	rs9858542	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:49701983G>A	ENST00000296452.4	+	9	11850	c.11736G>A	c.(11734-11736)acG>acA	p.T3912T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3912					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)		GCAAACTGACGGAAGGTATGC	0.637													G|||	978	0.195288	0.2171	0.17	5008	,	,		17930	0.0516		0.3241	False		,,,				2504	0.1994				p.T3912T		Atlas-SNP	.											BSN,NS,carcinoma,+1,1	BSN	272	1	0			c.G11736A						scavenged	.	G		1044,3362	379.7+/-323.4	120,804,1279	48	54	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11736	-10.1	0.6	3	dbSNP_119	52	2577,6023	416.5+/-352.1	402,1773,2125	yes	coding-synonymous	BSN	NM_003458.3		522,2577,3404	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	29.9651,23.695,27.841		3912/3927	49701983	3621,9385	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon9			ACTGACGGAAGGT	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.11736G>A	3.37:g.49701983G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	48	2	0.0416667	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			G|0.749;A|0.251	0.251	strong		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49701983	G	A	49701983	2	1	11	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49701983	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9234	49701983	148320447	108	2393										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52398997	52398997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catcctggatgaggccatccGcgaggcctgcaggaacagca	13	13	0	1	rs377201322		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:52398997G>A	ENST00000420323.2	+	34	5741	c.5480G>A	c.(5479-5481)cGc>cAc	p.R1827H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1827	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGCCATCCGCGAGGCCTGC	0.622																																					p.R1827H		Atlas-SNP	.											DNAH1_ENST00000420323,NS,carcinoma,0,4	DNAH1	534	4	0			c.G5480A						PASS	.	G	HIS/ARG	0,4214		0,0,2107	67	71	70		5480	4.6	1	3		70	1,8439		0,1,4219	no	missense	DNAH1	NM_015512.4	29	0,1,6326	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	1827/4266	52398997	1,12653	2107	4220	6327	SO:0001583	missense	25981	exon34			CCATCCGCGAGGC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5480G>A	3.37:g.52398997G>A	ENSP00000401514:p.Arg1827His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	35	0.339806	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926969	0.34002	0.0	1.18E-4	ENSG00000114841	ENST00000420323	T	0.44881	0.91	4.6	4.6	0.57074	.	0.000000	0.46758	D	0.000261	T	0.38134	0.1029	L	0.59912	1.85	0.50467	D	0.999871	B	0.29037	0.231	B	0.23852	0.049	T	0.31081	-0.9956	10	0.45353	T	0.12	.	11.9735	0.53078	0.0841:0.0:0.9159:0.0	.	1827	C9JXH6	.	H	1827	ENSP00000401514:R1827H	ENSP00000401514:R1827H	R	+	2	0	DNAH1	52374037	0.855000	0.29742	0.988000	0.46212	0.252000	0.25951	2.447000	0.44917	2.128000	0.65567	0.467000	0.42956	CGC	.	.	weak		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52398997	G	A	52398997	3	1	11	1	0	0	0	0	1	0	0	0	4597	1087	38	1	5610	1	DNAH1	3	52398997	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2697014	52398997	145623433	109	2394										
ITIH4	3700	hgsc.bcm.edu	37	chr3	52860923	52860923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtgatcttggcattgggagCcacactgaccgacacctgga	13	11	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:52860923C>T	ENST00000266041.4	-	4	499	c.403G>A	c.(403-405)Gct>Act	p.A135T	RP5-966M1.6_ENST00000513520.1_5'Flank|ITIH4_ENST00000346281.5_Missense_Mutation_p.A135T|ITIH4_ENST00000485816.1_Missense_Mutation_p.A135T|ITIH4_ENST00000406595.1_Missense_Mutation_p.A135T|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.A47T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	135	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATTGGGAGCCACACTGACC	0.617																																					p.A135T		Atlas-SNP	.											ITIH4,NS,carcinoma,+1,1	ITIH4	74	1	0			c.G403A						scavenged	.						88	87	87					3																	52860923		2203	4300	6503	SO:0001583	missense	3700	exon4			TGGGAGCCACACT	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.403G>A	3.37:g.52860923C>T	ENSP00000266041:p.Ala135Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_001166449	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.389964|4.389964	0.82902|0.82902	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	T;T;T;T;T|.	0.26373|.	1.74;1.74;1.74;1.74;1.74|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|D	0.83635|0.83635	0.5297|0.5297	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.85130|.	0.997;0.997;0.997;0.99|.	D|D	0.85634|0.85634	0.1272|0.1272	10|5	0.72032|.	D|.	0.01|.	-21.2108|-21.2108	18.772|18.772	0.91896|0.91896	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	135;135;135;135|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	T|D	135;135;135;135;135;47|4	ENSP00000266041:A135T;ENSP00000340520:A135T;ENSP00000417824:A135T;ENSP00000384425:A135T;ENSP00000440036:A47T|.	ENSP00000266041:A135T|.	A|G	-|-	1|2	0|0	ITIH4|ITIH4	52835963|52835963	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.685000|0.685000	0.39939|0.39939	3.236000|3.236000	0.51336|0.51336	2.547000|2.547000	0.85894|0.85894	0.561000|0.561000	0.74099|0.74099	GCT|GGC	.	.	none		0.617	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52860923	C	T	52860923	3	4	11	1	0	0	0	0	1	0	0	0	7906	739	26	2	2473	2	ITIH4	3	52860923	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	461926	52860923	145161507	110	2395										
THOC7	80145	hgsc.bcm.edu	37	chr3	63824125	63824125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctagtaaagttttgcccattGaaaattcacattgagacagc	7	8	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:63824125G>A	ENST00000295899.5	-	3	300	c.188C>T	c.(187-189)tCa>tTa	p.S63L	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	63	Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTGCCCATTGAAAATTCACA	0.299																																					p.S63L	Colon(48;665 1127 6720 18651)	Atlas-SNP	.											.	THOC7	24	.	0			c.C188T						PASS	.						62	64	63					3																	63824125		2202	4299	6501	SO:0001583	missense	80145	exon3			CCCATTGAAAATT	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.188C>T	3.37:g.63824125G>A	ENSP00000295899:p.Ser63Leu	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	263	74	0.281369	NM_025075	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	36	5.795790	0.96952	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	L	0.59436	1.845	0.80722	D	1	D	0.57571	0.98	P	0.57846	0.828	T	0.74054	-0.3788	9	0.56958	D	0.05	-34.2799	20.4324	0.99085	0.0:0.0:1.0:0.0	.	63	Q6I9Y2	THOC7_HUMAN	L	63	.	ENSP00000295899:S63L	S	-	2	0	THOC7	63799165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.823000	0.99369	2.833000	0.97629	0.585000	0.79938	TCA	.	.	none		0.299	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		A	63824125	G	A	63824125	3	1	11	1	0	0	0	0	1	0	0	0	15867	1294	45	2	450	2	THOC7	3	63824125	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	10963202	63824125	134198305	111	2396										
ADAMTS9	56999	hgsc.bcm.edu	37	chr3	64536662	64536662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgctcacgtcacagcgtgccCcatgcacctcgtttttgttg	9	14	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:64536662C>A	ENST00000498707.1	-	31	5117	c.4775G>T	c.(4774-4776)gGg>gTg	p.G1592V	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1564V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1592	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAGCGTGCCCCATGCACCTC	0.542																																					p.G1592V		Atlas-SNP	.											.	ADAMTS9	206	.	0			c.G4775T						PASS	.						209	173	185					3																	64536662		2203	4300	6503	SO:0001583	missense	56999	exon31			CGTGCCCCATGCA	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4775G>T	3.37:g.64536662C>A	ENSP00000418735:p.Gly1592Val	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	208	52	0.25	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.705|7.705	0.693825|0.693825	0.15039|0.15039	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|T	0.65178|0.65549	-0.14;-0.14|-0.16	5.83|5.83	3.0|3.0	0.34707|0.34707	.|.	0.407807|0.407807	0.28203|0.28203	N|N	0.016217|0.016217	T|T	0.55737|0.55737	0.1939|0.1939	L|L	0.41415|0.41415	1.275|1.275	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B|.	0.26258|.	0.003;0.145;0.001|.	B;B;B|.	0.27380|.	0.016;0.079;0.016|.	T|T	0.51236|0.51236	-0.8731|-0.8731	10|8	0.62326|0.72032	D|D	0.03|0.01	.|.	7.4549|7.4549	0.27261|0.27261	0.0:0.6035:0.2603:0.1362|0.0:0.6035:0.2603:0.1362	.|.	1564;1592;1592|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	V|W	1564;1592|648	ENSP00000295903:G1564V;ENSP00000418735:G1592V|ENSP00000417521:G648W	ENSP00000295903:G1564V|ENSP00000417521:G648W	G|G	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64511702|64511702	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	1.480000|1.480000	0.35464|0.35464	0.345000|0.345000	0.23873|0.23873	0.585000|0.585000	0.79938|0.79938	GGG|GGG	.	.	none		0.542	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			A	64536662	C	A	64536662	3	1	11	1	0	0	0	0	1	0	0	0	273	623	22	4	1068	4	ADAMTS9	3	64536662	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	712537	64536662	133485768	112	2397										
ROBO1	6091	hgsc.bcm.edu	37	chr3	78667095	78667095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcttcctcttctggcgcatcCgtatccatatctgagaccag	7	14	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:78667095C>T	ENST00000464233.1	-	27	4085	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T	ROBO1_ENST00000495273.1_Silent_p.T1279T|ROBO1_ENST00000436010.2_Silent_p.T1285T|ROBO1_ENST00000467549.1_Silent_p.T1224T	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1324					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)		CTGGCGCATCCGTATCCATAT	0.557																																					p.T1324T		Atlas-SNP	.											ROBO1_ENST00000495273,NS,carcinoma,-1,4	ROBO1	833	4	0			c.G3972A						scavenged	.						58	65	63					3																	78667095		2002	4165	6167	SO:0001819	synonymous_variant	6091	exon27			CGCATCCGTATCC	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.3972G>A	3.37:g.78667095C>T		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	192	55	0.286458	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																			.	.	none		0.557	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78667095	C	T	78667095	2	4	11	1	0	0	0	0	0	0	0	1	13513	639	23	1		1	ROBO1	3	78667095	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	14130433	78667095	119355335	113	2398										
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851659	97851659	+	Missense_Mutation	SNP	A	A	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	taatatatctcatcaccatcAtggggaatcttggtctgatt					rs199787047	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																					p.M40L		Atlas-SNP	.											OR5H1,NS,carcinoma,-2,7	OR5H1	71	7	3	Substitution - Missense(3)	kidney(2)|endometrium(1)	c.A118T						scavenged	.						45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341	exon1			ACCATCATGGGGA	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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu	Somatic	654	3	0.00458716		WXS	Illumina HiSeq	Phase_I	810	11	0.0135802	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG	A|0.978;T|0.022	0.022	strong		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	11	1	0	0	0	0	1	0	0	0	11159	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	19184564	97851659	100170771	114	2399	45	2	1	16		5	3	579	N	G_A	3.870235e-05
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851661	97851661	+	Missense_Mutation	SNP	G	G	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atatatctcatcaccatcatGgggaatcttggtctgattgc					rs200721525	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97851661G>T	ENST00000354565.2	+	1	120	c.120G>T	c.(118-120)atG>atT	p.M40I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40I(4)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCACCATCATGGGGAATCTTG	0.413																																					p.M40I		Atlas-SNP	.											OR5H1,NS,carcinoma,0,7	OR5H1	71	7	4	Substitution - Missense(4)	endometrium(2)|kidney(2)	c.G120T						scavenged	.						46	50	48					3																	97851661		2173	4250	6423	SO:0001583	missense	26341	exon1			CATCATGGGGAAT	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.120G>T	3.37:g.97851661G>T	ENSP00000346575:p.Met40Ile	Somatic	676	4	0.00591716		WXS	Illumina HiSeq	Phase_I	823	10	0.0121507	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108676	0.06924	.	.	ENSG00000231192	ENST00000354565	T	0.00433	7.43	3.63	2.75	0.32379	.	0.578292	0.14348	N	0.325303	T	0.00178	0.0005	N	0.02842	-0.48	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.29882	-0.9997	10	0.33940	T	0.23	.	8.5896	0.33679	0.1182:0.0:0.8818:0.0	.	40	A6NKK0	OR5H1_HUMAN	I	40	ENSP00000346575:M40I	ENSP00000346575:M40I	M	+	3	0	OR5H1	99334351	0.002000	0.14202	0.678000	0.29963	0.118000	0.20060	-0.111000	0.10807	0.729000	0.32403	0.195000	0.17529	ATG	G|0.982;T|0.018	0.018	strong		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851661	G	T	97851661	3	4	11	1	0	0	0	0	1	0	0	0	11159	1348	47	4	122	4	OR5H1	3	97851661	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2	97851661	100170769	115	2400	45	2	1	16		5	3	579	N	G_A	3.870235e-05
OR5H1	26341	hgsc.bcm.edu	37	chr3	97852211	97852211	+	Missense_Mutation	SNP	G	G	A													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttatacatttgttctcttcGcaatcttaaaaaagaaatct					rs72926074	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97852211G>A	ENST00000354565.2	+	1	670	c.670G>A	c.(670-672)Gca>Aca	p.A224T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	224						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						TGTTCTCTTCGCAATCTTAAA	0.343													A|||	126	0.0251597	0.0908	0.0043	5008	,	,		19300	0.0		0.003	False		,,,				2504	0.0				p.A224T		Atlas-SNP	.											.	OR5H1	71	.	0			c.G670A						PASS	.	A	THR/ALA	262,4142	791.4+/-415.1	10,242,1950	71	78	76		670	-0.4	0	3	dbSNP_130	76	9,8589	815.9+/-406.9	0,9,4290	yes	missense	OR5H1	NM_001005338.1	58	10,251,6240	AA,AG,GG		0.1047,5.9491,2.0843	benign	224/314	97852211	271,12731	2202	4299	6501	SO:0001583	missense	26341	exon1			CTCTTCGCAATCT	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.670G>A	3.37:g.97852211G>A	ENSP00000346575:p.Ala224Thr	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	204	11	0.0539216	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	43	0.019688644688644688	40	0.08130081300813008	0	0.0	0	0.0	3	0.00395778364116095	A	0	-2.610351	0.00121	0.059491	0.001047	ENSG00000231192	ENST00000354565	T	0.00188	8.59	3.57	-0.435	0.12279	GPCR, rhodopsin-like superfamily (1);	0.627824	0.14082	N	0.342661	T	0.00012	0.0000	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.07325	T	0.83	.	3.9726	0.09460	0.3411:0.0:0.4652:0.1937	.	224	A6NKK0	OR5H1_HUMAN	T	224	ENSP00000346575:A224T	ENSP00000346575:A224T	A	+	1	0	OR5H1	99334901	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.171000	0.09883	-0.302000	0.08869	-1.298000	0.01336	GCA	G|0.981;A|0.019	0.019	strong		0.343	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97852211	G	A	97852211	3	1	11	1	0	0	0	0	1	0	0	0	11159	1087	38	1	672	1	OR5H1	3	97852211	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	550	97852211	100170219	116	2401	46	2	1	16		5	3	579	N	G_A	3.870235e-05
OR5H1	26341	hgsc.bcm.edu	37	chr3	97852220	97852220	+	Missense_Mutation	SNP	A	A	G													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgttctcttcgcaatcttaAaaaagaaatctgataaaggt							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97852220A>G	ENST00000354565.2	+	1	679	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	227						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						CGCAATCTTAAAAAAGAAATC	0.338																																					p.K227E		Atlas-SNP	.											.	OR5H1	71	.	0			c.A679G						PASS	.						73	81	78					3																	97852220		2202	4299	6501	SO:0001583	missense	26341	exon1			ATCTTAAAAAAGA	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.679A>G	3.37:g.97852220A>G	ENSP00000346575:p.Lys227Glu	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	211	19	0.0900474	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.686	-0.064561	0.07273	.	.	ENSG00000231192	ENST00000354565	T	0.00169	8.63	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.264153	0.26915	N	0.021841	T	0.00356	0.0011	M	0.92784	3.345	0.09310	N	1	B	0.10296	0.003	B	0.23574	0.047	T	0.28870	-1.0030	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	227	A6NKK0	OR5H1_HUMAN	E	227	ENSP00000346575:K227E	ENSP00000346575:K227E	K	+	1	0	OR5H1	99334910	0.000000	0.05858	0.030000	0.17652	0.006000	0.05464	0.423000	0.21313	1.481000	0.48307	0.164000	0.16699	AAA	.	.	none		0.338	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97852220	A	G	97852220	3	3	11	1	0	0	0	0	1	0	0	0	11159	15	1	2	681	2	OR5H1	3	97852220	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	9	97852220	100170210	117	2402	46	2	1	16		5	3	579	N	G_A	3.870235e-05
OR5H1	26341	hgsc.bcm.edu	37	chr3	97852237	97852237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttaaaaaagaaatctgataaAggtgtaaggaaagccttttc	8	4	1	2	rs150614363		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97852237A>G	ENST00000354565.2	+	1	696	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	232						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						AATCTGATAAAGGTGTAAGGA	0.388																																					p.K232K		Atlas-SNP	.											.	OR5H1	71	.	0			c.A696G						PASS	.	A		3,4403	4.2+/-10.8	0,3,2200	90	98	95		696	-1.9	0	3	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR5H1	NM_001005338.1		0,4,6498	GG,GA,AA		0.0116,0.0681,0.0308		232/314	97852237	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	26341	exon1			TGATAAAGGTGTA	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.696A>G	3.37:g.97852237A>G		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	237	35	0.147679	NM_001005338		Silent	SNP	ENST00000354565.2	37	CCDS33797.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97852237	A	G	97852237	2	3	11	1	0	0	0	0	0	0	0	1	11159	69	3	3		3	OR5H1	3	97852237	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	17	97852237	100170193	118	2403			1	16		5	3	579	N	G_A	3.870235e-05
OR5H14	403273	hgsc.bcm.edu	37	chr3	97868377	97868377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttggtctgattgctgtcatcTggaaagaccctcatcttcat	8	10	6	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97868377T>C	ENST00000437310.1	+	1	208	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	50						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGTCATCTGGAAAGACCC	0.403																																					p.W50R		Atlas-SNP	.											OR5H14,NS,malignant_melanoma,-2,1	OR5H14	56	1	0			c.T148C						scavenged	.						311	313	312					3																	97868377		2203	4300	6503	SO:0001583	missense	403273	exon1			GTCATCTGGAAAG		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.148T>C	3.37:g.97868377T>C	ENSP00000401706:p.Trp50Arg	Somatic	686	8	0.0116618		WXS	Illumina HiSeq	Phase_I	809	8	0.00988875	NM_001005514	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	3.061	-0.193169	0.06259	.	.	ENSG00000236032	ENST00000437310	T	0.03801	3.8	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.993003	0.08167	N	0.987570	T	0.06142	0.0159	N	0.10760	0.04	0.09310	N	1	D	0.56968	0.978	P	0.58266	0.836	T	0.50101	-0.8867	10	0.25106	T	0.35	.	8.4219	0.32705	0.0:0.0:0.0:1.0	.	50	A6NHG9	O5H14_HUMAN	R	50	ENSP00000401706:W50R	ENSP00000401706:W50R	W	+	1	0	OR5H14	99351067	0.000000	0.05858	0.995000	0.50966	0.396000	0.30629	-0.007000	0.12810	1.132000	0.42129	0.164000	0.16699	TGG	.	.	none		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97868377	T	C	97868377	3	2	11	1	0	0	0	0	1	0	0	0	11160	1580	55	3	150	3	OR5H14	3	97868377	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	16140	97868377	100154053	119	2404										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97888289	97888289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcccatctcttctctgtctGtttatactatggcccccttc	5	15	3	0	rs140807945		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97888289G>C	ENST00000356526.2	+	1	746	c.746G>C	c.(745-747)tGt>tCt	p.C249S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTCTCTGTCTGTTTATACTAT	0.428													g|||	1	0.000199681	0.0	0.0	5008	,	,		16343	0.001		0.0	False		,,,				2504	0.0				p.C249S		Atlas-SNP	.											OR5H15,colon,carcinoma,0,2	OR5H15	70	2	0			c.G746C						PASS	.						101	103	102					3																	97888289		2203	4300	6503	SO:0001583	missense	403274	exon1			CTGTCTGTTTATA		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.746G>C	3.37:g.97888289G>C	ENSP00000373195:p.Cys249Ser	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	292	23	0.0787671	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.618780	0.00118	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.35789	1.29	2.48	0.465	0.16711	GPCR, rhodopsin-like superfamily (1);	0.476318	0.17871	N	0.159188	T	0.07638	0.0192	N	0.00630	-1.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.02654	T	1	.	4.8111	0.13344	0.0:0.4161:0.4463:0.1376	.	249	A6NDH6	O5H15_HUMAN	S	249	ENSP00000373195:C249S	ENSP00000373195:C249S	C	+	2	0	OR5H15	99370979	0.000000	0.05858	0.136000	0.22124	0.013000	0.08279	-0.279000	0.08479	-0.036000	0.13669	-1.406000	0.01132	TGT	G|0.999;C|0.001	0.001	weak		0.428	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			C	97888289	G	C	97888289	3	2	11	1	0	0	0	0	1	0	0	0	11161	1377	48	4	748	4	OR5H15	3	97888289	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	19912	97888289	100134141	120	2405										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97888302	97888302	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctgtctgtttatactatggCccccttctcttaatgtatgt	6	10	3	0	rs115424559	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:97888302C>A	ENST00000356526.2	+	1	759	c.759C>A	c.(757-759)ggC>ggA	p.G253G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TATACTATGGCCCCCTTCTCT	0.433													C|||	51	0.0101837	0.0008	0.0043	5008	,	,		15699	0.0		0.0427	False		,,,				2504	0.0041				p.G253G		Atlas-SNP	.											OR5H15,rectum,carcinoma,0,1	OR5H15	70	1	0			c.C759A						scavenged	.	C		31,4373		1,29,2172	96	100	98		759	-2.5	0.1	3	dbSNP_132	98	212,8388		3,206,4091	no	coding-synonymous	OR5H15	NM_001005515.1		4,235,6263	AA,AC,CC		2.4651,0.7039,1.8687		253/314	97888302	243,12761	2202	4300	6502	SO:0001819	synonymous_variant	403274	exon1			CTATGGCCCCCTT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.759C>A	3.37:g.97888302C>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	285	14	0.0491228	NM_001005515		Silent	SNP	ENST00000356526.2	37	CCDS33799.1																																																																																			C|0.981;A|0.019	0.019	strong		0.433	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			A	97888302	C	A	97888302	2	1	11	1	0	0	0	0	0	0	0	1	11161	726	26	4		4	OR5H15	3	97888302	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	13	97888302	100134128	121	2406										
COL8A1	1295	hgsc.bcm.edu	37	chr3	99514003	99514003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaggagaaggtgggattgtaGggccacaggggccaccaggt	18	7	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:99514003G>A	ENST00000261037.3	+	5	1638	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G420R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	420	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGGATTGTAGGGCCACAGGG	0.617																																					p.G420R		Atlas-SNP	.											.	COL8A1	68	.	0			c.G1258A						PASS	.						38	38	38					3																	99514003		2203	4299	6502	SO:0001583	missense	1295	exon5			ATTGTAGGGCCAC	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1258G>A	3.37:g.99514003G>A	ENSP00000261037:p.Gly420Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	77	31	0.402597	NM_001850	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159714	0.57368	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99353	-5.77;-5.77	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98206	1.0470	10	0.87932	D	0	.	17.6174	0.88071	0.0:0.0:1.0:0.0	.	421;420	E7EPK9;P27658	.;CO8A1_HUMAN	R	420	ENSP00000261037:G420R;ENSP00000273342:G420R	ENSP00000261037:G420R	G	+	1	0	COL8A1	100996693	1.000000	0.71417	0.972000	0.41901	0.930000	0.56654	9.819000	0.99357	2.746000	0.94184	0.563000	0.77884	GGG	.	.	none		0.617	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		A	99514003	G	A	99514003	3	1	11	1	0	0	0	0	1	0	0	0	3705	1000	35	2	1264	2	COL8A1	3	99514003	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1625701	99514003	98508427	122	2407										
TBC1D23	55773	hgsc.bcm.edu	37	chr3	100039768	100039768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctgaactcattaccttcaaGtatggaaatagcagtgcttc	7	10	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:100039768G>C	ENST00000394144.4	+	18	1978	c.1971G>C	c.(1969-1971)aaG>aaC	p.K657N	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.K642N|TBC1D23_ENST00000475134.1_Missense_Mutation_p.K520N	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	657					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TTACCTTCAAGTATGGAAATA	0.328																																					p.K657N		Atlas-SNP	.											.	TBC1D23	133	.	0			c.G1971C						PASS	.						64	65	64					3																	100039768		2203	4300	6503	SO:0001583	missense	55773	exon18			CTTCAAGTATGGA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1971G>C	3.37:g.100039768G>C	ENSP00000377700:p.Lys657Asn	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	85	28	0.329412	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495039	0.64186	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.43294	0.95;0.96;1.02	5.55	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.69479	0.829;0.964	T	0.57177	-0.7856	9	.	.	.	.	8.4773	0.33021	0.3074:0.0:0.6926:0.0	.	657;642	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	N	642;657;520	ENSP00000340693:K642N;ENSP00000377700:K657N;ENSP00000418059:K520N	.	K	+	3	2	TBC1D23	101522458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.160000	0.31761	0.694000	0.31654	0.655000	0.94253	AAG	.	.	none		0.328	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		C	100039768	G	C	100039768	3	2	11	1	0	0	0	0	1	0	0	0	15610	1020	36	4	1992	4	TBC1D23	3	100039768	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	525765	100039768	97982662	123	2408										
NIT2	56954	hgsc.bcm.edu	37	chr3	100065064	100065064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gggcatctgctacgacatgcGgtttgcagagcttgcacaaa	12	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:100065064G>A	ENST00000394140.4	+	6	561	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	157	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TACGACATGCGGTTTGCAGAG	0.493																																					p.R157Q		Atlas-SNP	.											NIT2,NS,carcinoma,0,1	NIT2	35	1	0			c.G470A						scavenged	.						234	181	199					3																	100065064		2203	4300	6503	SO:0001583	missense	56954	exon6			ACATGCGGTTTGC	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.470G>A	3.37:g.100065064G>A	ENSP00000377696:p.Arg157Gln	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	227	3	0.0132159	NM_020202	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541973	0.96474	.	.	ENSG00000114021	ENST00000394140	D	0.87029	-2.2	5.49	5.49	0.81192	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98468	1.0599	10	0.87932	D	0	-1.399	19.3536	0.94401	0.0:0.0:1.0:0.0	.	157	Q9NQR4	NIT2_HUMAN	Q	157	ENSP00000377696:R157Q	ENSP00000377696:R157Q	R	+	2	0	NIT2	101547754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.938000	0.92943	2.733000	0.93635	0.655000	0.94253	CGG	.	.	none		0.493	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		A	100065064	G	A	100065064	3	1	11	1	0	0	0	0	1	0	0	0	10434	1116	39	1	492	1	NIT2	3	100065064	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	25296	100065064	97957366	124	2409										
CD96	10225	hgsc.bcm.edu	37	chr3	111319650	111319650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgttttaacaagggtacatAgtaataaaccagcccaatca	6	9	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:111319650A>T	ENST00000283285.5	+	8	1155	c.1024A>T	c.(1024-1026)Agt>Tgt	p.S342C	CD96_ENST00000438817.2_Missense_Mutation_p.S326C|CD96_ENST00000352690.4_Missense_Mutation_p.S326C	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	342	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGGGTACATAGTAATAAACC	0.393									Opitz Trigonocephaly syndrome																												p.S342C		Atlas-SNP	.											CD96,NS,carcinoma,-1,1	CD96	75	1	0			c.A1024T						scavenged	.						113	113	113					3																	111319650		2203	4300	6503	SO:0001583	missense	10225	exon8	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	GTACATAGTAATA	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1024A>T	3.37:g.111319650A>T	ENSP00000283285:p.Ser342Cys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	194	2	0.0103093	NM_198196	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496064	0.44352	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.00630	6.1;6.1;6.1	5.04	-1.91	0.07641	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.663960	0.03159	N	0.169078	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.47604	0.805;0.768;0.805;0.898	P;B;P;P	0.48488	0.579;0.443;0.579;0.579	T	0.44697	-0.9311	10	0.59425	D	0.04	0.8561	5.6216	0.17459	0.2829:0.3766:0.3405:0.0	.	326;326;342;326	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	C	326;342;326	ENSP00000342040:S326C;ENSP00000283285:S342C;ENSP00000389801:S326C	ENSP00000283285:S342C	S	+	1	0	CD96	112802340	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.091000	0.11146	-0.136000	0.11475	-0.417000	0.06048	AGT	.	.	none		0.393	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			T	111319650	A	T	111319650	3	4	11	1	0	0	0	0	1	0	0	0	3048	420	15	5	1054	5	CD96	3	111319650	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	11254586	111319650	86702780	125	2410										
ZBTB20	26137	hgsc.bcm.edu	37	chr3	114057923	114057923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtcaaactttgctgggcagaCggagcagacgtaagtggtcc	14	9	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:114057923C>T	ENST00000474710.1	-	5	2333	c.2155G>A	c.(2155-2157)Gtc>Atc	p.V719I	ZBTB20_ENST00000481632.1_Missense_Mutation_p.V646I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V646I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V646I|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V646I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V646I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V646I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	719						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGGGCAGACGGAGCAGACG	0.582																																					p.V719I	NSCLC(69;748 1344 9802 11203 30933)	Atlas-SNP	.											ZBTB20_ENST00000474710,NS,carcinoma,0,4	ZBTB20	157	4	0			c.G2155A						scavenged	.						74	71	72					3																	114057923		2203	4300	6503	SO:0001583	missense	26137	exon5			GGCAGACGGAGCA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2155G>A	3.37:g.114057923C>T	ENSP00000419153:p.Val719Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_001164342	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719251	0.68844	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11495	2.79;2.79;2.79;2.79;2.77;2.79;2.79	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.127904	0.52532	D	0.000067	T	0.27098	0.0664	L	0.37850	1.14	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.00128	-1.2017	10	0.62326	D	0.03	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	719	Q9HC78	ZBT20_HUMAN	I	646;646;646;646;719;646;646	ENSP00000420324:V646I;ENSP00000377375:V646I;ENSP00000418092:V646I;ENSP00000419902:V646I;ENSP00000419153:V719I;ENSP00000349803:V646I;ENSP00000417307:V646I	ENSP00000349803:V646I	V	-	1	0	ZBTB20	115540613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.746000	0.68681	2.941000	0.99782	0.655000	0.94253	GTC	.	.	none		0.582	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114057923	C	T	114057923	3	4	11	1	0	0	0	0	1	0	0	0	17526	536	19	1	74	1	ZBTB20	3	114057923	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2738273	114057923	83964507	126	2411										
ZBTB20	26137	hgsc.bcm.edu	37	chr3	114069130	114069130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtgacactcacctgtgtgtaCgaacatgtgcttgacgtagt	11	9	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:114069130C>T	ENST00000474710.1	-	4	1973	c.1795G>A	c.(1795-1797)Gta>Ata	p.V599I	ZBTB20_ENST00000481632.1_Missense_Mutation_p.V526I|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V526I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V526I|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V526I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V526I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V526I|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	599						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCTGTGTGTACGAACATGTGC	0.557																																					p.V599I	NSCLC(69;748 1344 9802 11203 30933)	Atlas-SNP	.											.	ZBTB20	157	.	0			c.G1795A						PASS	.						156	154	155					3																	114069130		2203	4300	6503	SO:0001583	missense	26137	exon4			TGTGTACGAACAT	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1795G>A	3.37:g.114069130C>T	ENSP00000419153:p.Val599Ile	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	323	87	0.26935	NM_001164342	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121532	0.37436	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.19105	3.17;3.17;3.17;3.17;2.17;3.17;3.17	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	N	0.11000	0.08	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.06356	-1.0831	10	0.07644	T	0.81	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	599	Q9HC78	ZBT20_HUMAN	I	526;526;526;526;599;526;526	ENSP00000420324:V526I;ENSP00000377375:V526I;ENSP00000418092:V526I;ENSP00000419902:V526I;ENSP00000419153:V599I;ENSP00000349803:V526I;ENSP00000417307:V526I	ENSP00000349803:V526I	V	-	1	0	ZBTB20	115551820	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.482000	0.81143	2.868000	0.98415	0.557000	0.71058	GTA	.	.	none		0.557	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114069130	C	T	114069130	3	4	11	1	0	0	0	0	1	0	0	0	17526	536	19	1	438	1	ZBTB20	3	114069130	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11207	114069130	83953300	127	2412										
ADCY5	111	hgsc.bcm.edu	37	chr3	123167249	123167249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttggtggagccgcgggcagaGcccccgggggcatgggggta	21	10	0	1	rs4678027	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:123167249G>A	ENST00000462833.1	-	1	1356	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	48					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGCGGGCAGAGCCCCCGGGGG	0.756													A|||	4941	0.986621	0.9501	0.9986	5008	,	,		7224	1.0		1.0	False		,,,				2504	1.0				p.G48G		Atlas-SNP	.											.	ADCY5	169	.	0			c.C144T						PASS	.	A		2646,76		1285,76,0	2	2	2		144	-2.7	0.8	3	dbSNP_111	2	5980,0		2990,0,0	no	coding-synonymous	ADCY5	NM_183357.2		4275,76,0	AA,AG,GG		0.0,2.7921,0.8734		48/1262	123167249	8626,76	1361	2990	4351	SO:0001819	synonymous_variant	111	exon1			GGCAGAGCCCCCG	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.144C>T	3.37:g.123167249G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	CCDS3022.1																																																																																			G|0.027;A|0.973	0.973	strong		0.756	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123167249	G	A	123167249	2	1	11	1	0	0	0	0	0	0	0	1	297	958	34	2		2	ADCY5	3	123167249	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9098119	123167249	74855181	128	2413										
KALRN	8997	hgsc.bcm.edu	37	chr3	124385389	124385389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtcccggaccaaagagaggCgcgtgttcctcttcgagcag	13	12	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:124385389C>T	ENST00000291478.5	+	13	1508	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	KALRN_ENST00000393496.1_Missense_Mutation_p.R487C|KALRN_ENST00000360013.3_Missense_Mutation_p.R2146C|KALRN_ENST00000428018.2_Missense_Mutation_p.R417C|KALRN_ENST00000459915.1_Missense_Mutation_p.R238C	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2145					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAGAGGCGCGTGTTCCT	0.547																																					p.R2146C		Atlas-SNP	.											.	KALRN	556	.	0			c.C6436T						PASS	.						96	85	89					3																	124385389		2203	4300	6503	SO:0001583	missense	8997	exon46			GAGAGGCGCGTGT	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1345C>T	3.37:g.124385389C>T	ENSP00000291478:p.Arg449Cys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	184	50	0.271739	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923372	0.73213	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.15	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.90650	3.135	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.996	T	0.51084	-0.8750	10	0.87932	D	0	.	13.566	0.61819	0.193:0.807:0.0:0.0	.	238;449;487;2145	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	C	2146;487;449;417;238	ENSP00000353109:R2146C;ENSP00000377134:R487C;ENSP00000291478:R449C;ENSP00000402419:R417C;ENSP00000420318:R238C	ENSP00000291478:R449C	R	+	1	0	KALRN	125868079	0.883000	0.30277	0.999000	0.59377	0.993000	0.82548	1.698000	0.37794	2.687000	0.91594	0.563000	0.77884	CGC	.	.	none		0.547	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		T	124385389	C	T	124385389	3	4	11	1	0	0	0	0	1	0	0	0	7975	768	27	1	6774	1	KALRN	3	124385389	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1218140	124385389	73637041	129	2414										
KLF15	28999	hgsc.bcm.edu	37	chr3	126070934	126070934	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacaggggcaatgcgcacaaActtggagggcaggttcaagt	14	9	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:126070934A>C	ENST00000296233.3	-	2	1062	c.832T>G	c.(832-834)Ttt>Gtt	p.F278V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	278					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATGCGCACAAACTTGGAGGGC	0.627																																					p.F278V		Atlas-SNP	.											.	KLF15	40	.	0			c.T832G						PASS	.						33	24	27					3																	126070934		2173	4274	6447	SO:0001583	missense	28999	exon2			GCACAAACTTGGA	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.832T>G	3.37:g.126070934A>C	ENSP00000296233:p.Phe278Val	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	389	96	0.246787	NM_014079		Missense_Mutation	SNP	ENST00000296233.3	37	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060597	0.76074	.	.	ENSG00000163884	ENST00000296233	T	0.08896	3.04	4.98	4.98	0.66077	.	0.046500	0.85682	D	0.000000	T	0.21761	0.0524	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.01448	-1.1352	10	0.26408	T	0.33	.	12.9208	0.58230	1.0:0.0:0.0:0.0	.	278	Q9UIH9	KLF15_HUMAN	V	278	ENSP00000296233:F278V	ENSP00000296233:F278V	F	-	1	0	KLF15	127553624	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	9.264000	0.95635	2.003000	0.58678	0.398000	0.26397	TTT	.	.	none		0.627	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		C	126070934	A	C	126070934	3	2	11	1	0	0	0	0	1	0	0	0	8343	43	2	5	426	5	KLF15	3	126070934	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1685545	126070934	71951496	130	2415										
CCDC37	348807	hgsc.bcm.edu	37	chr3	126142198	126142198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccatcccccccacgcaggaGgacaccgacagcgatgggga	12	17	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:126142198G>A	ENST00000352312.1	+	12	1212	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	CCDC37_ENST00000505024.1_Silent_p.E372E|CCDC37_ENST00000393425.1_Silent_p.E372E	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCACGCAGGAGGACACCGACA	0.667																																					p.E371E		Atlas-SNP	.											.	CCDC37	69	.	0			c.G1113A						PASS	.						41	37	38					3																	126142198		2203	4300	6503	SO:0001819	synonymous_variant	348807	exon12			GCAGGAGGACACC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1113G>A	3.37:g.126142198G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	145	42	0.289655	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																			.	.	none		0.667	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126142198	G	A	126142198	2	1	11	1	0	0	0	0	0	0	0	1	2809	991	35	2		2	CCDC37	3	126142198	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	71264	126142198	71880232	131	2416										
EEFSEC	60678	hgsc.bcm.edu	37	chr3	128060190	128060190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accctaagctgctggagcgcGggttggtgtgtgcccccgag	16	12	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:128060190G>A	ENST00000254730.6	+	5	955	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.G246R	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	301					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCTGGAGCGCGGGTTGGTGTG	0.592																																					p.G301R		Atlas-SNP	.											EEFSEC,colon,carcinoma,0,2	EEFSEC	53	2	0			c.G901A						scavenged	.						87	80	82					3																	128060190		2203	4300	6503	SO:0001583	missense	60678	exon5			GAGCGCGGGTTGG		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.901G>A	3.37:g.128060190G>A	ENSP00000254730:p.Gly301Arg	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	215	3	0.0139535	NM_021937	Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093277	0.94149	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.70516	-0.42;-0.49	5.34	5.34	0.76211	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95724	0.8769	10	0.87932	D	0	-15.2532	19.0252	0.92930	0.0:0.0:1.0:0.0	.	246;301	C9J8T0;P57772	.;SELB_HUMAN	R	301;246	ENSP00000254730:G301R;ENSP00000417660:G246R	ENSP00000254730:G301R	G	+	1	0	EEFSEC	129542880	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	9.849000	0.99510	2.480000	0.83734	0.591000	0.81541	GGG	.	.	none		0.592	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		A	128060190	G	A	128060190	3	1	11	1	0	0	0	0	1	0	0	0	4931	1116	39	1	919	1	EEFSEC	3	128060190	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1917992	128060190	69962240	132	2417										
ARMC8	25852	hgsc.bcm.edu	37	chr3	137942263	137942263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcttcagcaagaaacctcaaGcacagagctgaaaactgaat	8	10	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:137942263G>A	ENST00000469044.1	+	4	498	c.227G>A	c.(226-228)aGc>aAc	p.S76N	ARMC8_ENST00000471453.1_Missense_Mutation_p.S62N|ARMC8_ENST00000461822.1_Missense_Mutation_p.S76N|ARMC8_ENST00000491704.1_Missense_Mutation_p.S34N|ARMC8_ENST00000481646.1_Missense_Mutation_p.S62N|ARMC8_ENST00000393058.3_Missense_Mutation_p.S66N|ARMC8_ENST00000538260.1_Missense_Mutation_p.S76N|ARMC8_ENST00000489213.1_Missense_Mutation_p.S34N|ARMC8_ENST00000470821.1_Missense_Mutation_p.S76N|ARMC8_ENST00000358441.2_Missense_Mutation_p.S62N|ARMC8_ENST00000485396.1_Missense_Mutation_p.S34N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	76										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAACCTCAAGCACAGAGCTG	0.383																																					p.S76N		Atlas-SNP	.											ARMC8_ENST00000481646,colon,carcinoma,0,2	ARMC8	79	2	0			c.G227A						scavenged	.						84	82	83					3																	137942263		2203	4300	6503	SO:0001583	missense	25852	exon4			CCTCAAGCACAGA		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.227G>A	3.37:g.137942263G>A	ENSP00000419413:p.Ser76Asn	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	193	3	0.015544	NM_001267041	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	12.13	1.846453	0.32606	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000466749;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.9	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.038615	0.85682	D	0.000000	T	0.53867	0.1823	N	0.22421	0.69	0.58432	D	0.99999	B;B;B;B;B;B;B	0.31413	0.001;0.0;0.0;0.322;0.0;0.004;0.002	B;B;B;B;B;B;B	0.34093	0.002;0.003;0.003;0.175;0.003;0.005;0.003	T	0.50224	-0.8853	10	0.22706	T	0.39	-19.3172	14.9985	0.71451	0.0:0.1432:0.8568:0.0	.	34;76;76;76;62;76;62	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;.;ARMC8_HUMAN;.;.;.	N	62;76;34;76;34;62;34;76;34;62;76;76;76;66	ENSP00000420333:S62N;ENSP00000419413:S76N;ENSP00000417304:S34N;ENSP00000418074:S76N;ENSP00000417699:S34N;ENSP00000351221:S62N;ENSP00000418412:S34N;ENSP00000420706:S76N;ENSP00000417049:S34N;ENSP00000420440:S62N;ENSP00000418405:S76N;ENSP00000420719:S76N;ENSP00000441592:S76N;ENSP00000376778:S66N	ENSP00000351221:S62N	S	+	2	0	ARMC8	139424953	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.617000	0.74210	1.504000	0.48704	-0.156000	0.13503	AGC	.	.	none		0.383	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		A	137942263	G	A	137942263	3	1	11	1	0	0	0	0	1	0	0	0	957	971	34	2	199	2	ARMC8	3	137942263	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9882073	137942263	60080167	133	2418										
SLC25A36	55186	hgsc.bcm.edu	37	chr3	140692754	140692754	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttctacaatggaaaatgatGaagagtctgtgaaagaagca	10	5	2	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:140692754G>T	ENST00000324194.6	+	6	817	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	SLC25A36_ENST00000453248.2_Nonsense_Mutation_p.E191*|RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Nonsense_Mutation_p.E217*			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	217					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGAAAATGATGAAGAGTCTGT	0.353																																					p.E217X		Atlas-SNP	.											SLC25A36,NS,carcinoma,-2,1	SLC25A36	24	1	0			c.G649T						scavenged	.						68	69	69					3																	140692754		2203	4300	6503	SO:0001587	stop_gained	55186	exon6			AATGATGAAGAGT	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.649G>T	3.37:g.140692754G>T	ENSP00000320688:p.Glu217*	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	60	1	0.0166667	NM_018155	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Nonsense_Mutation	SNP	ENST00000324194.6	37	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	37	6.337806	0.97485	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	.	.	.	6.16	6.16	0.99307	.	0.143577	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-9.3544	18.3537	0.90348	0.0:0.0:1.0:0.0	.	.	.	.	X	217;217;191	.	ENSP00000320688:E217X	E	+	1	0	SLC25A36	142175444	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	9.863000	0.99569	2.937000	0.99478	0.650000	0.86243	GAA	.	.	none		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		T	140692754	G	T	140692754	4	4	11	1	0	0	0	0	0	1	0	0	14500	1291	45	4	671	4	SLC25A36	3	140692754	Nonsense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2750491	140692754	57329676	134	2419										
NAALADL2	254827	hgsc.bcm.edu	37	chr3	174814738	174814738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgaccaattccagctagacGgtgctgagaatcagaaccta	9	10	1	4	rs9823911	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:174814738G>A	ENST00000454872.1	+	2	330	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	68			G -> S (in dbSNP:rs9823911). {ECO:0000269|PubMed:15168106, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAGCTAGACGGTGCTGAGAA	0.463													A|||	1893	0.377995	0.2852	0.4179	5008	,	,		14330	0.4375		0.3926	False		,,,				2504	0.3988				p.G68S		Atlas-SNP	.											.	NAALADL2	86	.	0			c.G202A						PASS	.	A	SER/GLY	1024,2766		148,728,1019	77	73	74		202	1	0	3	dbSNP_119	74	3188,5052		627,1934,1559	yes	missense	NAALADL2	NM_207015.2	56	775,2662,2578	AA,AG,GG		38.6893,27.0185,35.0125	benign	68/796	174814738	4212,7818	1895	4120	6015	SO:0001583	missense	254827	exon2			CTAGACGGTGCTG		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.202G>A	3.37:g.174814738G>A	ENSP00000404705:p.Gly68Ser	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	196	38	0.193878	NM_207015	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	828	0.3791208791208791	145	0.29471544715447157	161	0.4447513812154696	236	0.4125874125874126	286	0.37730870712401055	A	7.764	0.706087	0.15172	0.270185	0.386893	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.30182	1.62;1.54	5.72	0.957	0.19613	.	0.757199	0.12476	N	0.465639	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46541	-0.9184	9	0.02654	T	1	-0.2147	5.8982	0.18951	0.4966:0.2423:0.2611:0.0	rs9823911;rs52835565;rs58142944;rs9823911	51;68	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	S	51;68	ENSP00000409858:G51S;ENSP00000404705:G68S	ENSP00000409858:G51S	G	+	1	0	NAALADL2	176297432	0.007000	0.16637	0.018000	0.16275	0.704000	0.40688	0.523000	0.22925	-0.042000	0.13535	-0.269000	0.10298	GGT	G|0.642;A|0.358	0.358	strong		0.463	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		A	174814738	G	A	174814738	3	1	11	1	0	0	0	0	1	0	0	0	10130	1116	39	1	208	1	NAALADL2	3	174814738	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	34121984	174814738	23207692	135	2420										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184290807	184290807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	actggggcggagcccacctcGctggtcattgctcctggcac	13	15	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:184290807G>A	ENST00000330394.2	+	3	1151	c.699G>A	c.(697-699)tcG>tcA	p.S233S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	233	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCCCACCTCGCTGGTCATTG	0.632																																					p.S233S		Atlas-SNP	.											.	EPHB3	114	.	0			c.G699A						PASS	.						53	59	57					3																	184290807		2203	4299	6502	SO:0001819	synonymous_variant	2049	exon3			CACCTCGCTGGTC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.699G>A	3.37:g.184290807G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	139	45	0.323741	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			.	.	none		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184290807	G	A	184290807	2	1	11	1	0	0	0	0	0	0	0	1	5176	1074	38	1		1	EPHB3	3	184290807	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9476069	184290807	13731623	136	2421										
VPS8	23355	hgsc.bcm.edu	37	chr3	184616396	184616396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcgtttatatgatgctatgaTctatgtctacaacagaggca	8	7	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:184616396T>C	ENST00000437079.3	+	24	2219	c.2048T>C	c.(2047-2049)aTc>aCc	p.I683T	VPS8_ENST00000446204.2_Missense_Mutation_p.I591T|VPS8_ENST00000287546.4_Missense_Mutation_p.I683T|VPS8_ENST00000436792.2_Missense_Mutation_p.I681T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	683							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GATGCTATGATCTATGTCTAC	0.338																																					p.I683T		Atlas-SNP	.											.	VPS8	109	.	0			c.T2048C						PASS	.						119	118	118					3																	184616396		1838	4084	5922	SO:0001583	missense	23355	exon23			CTATGATCTATGT	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2048T>C	3.37:g.184616396T>C	ENSP00000397879:p.Ile683Thr	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	241	64	0.26556	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589816	0.86851	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.33865	1.47;1.47;1.47;1.39	5.75	5.75	0.90469	Quinonprotein alcohol dehydrogenase-like (1);	0.042417	0.85682	D	0.000000	T	0.62551	0.2437	M	0.80028	2.48	0.80722	D	1	P;D;P	0.65815	0.756;0.995;0.661	P;D;B	0.69307	0.644;0.963;0.43	T	0.67837	-0.5567	10	0.87932	D	0	-21.0896	16.0544	0.80788	0.0:0.0:0.0:1.0	.	683;591;681	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	T	683;683;681;591	ENSP00000287546:I683T;ENSP00000397879:I683T;ENSP00000404704:I681T;ENSP00000405483:I591T	ENSP00000287546:I683T	I	+	2	0	VPS8	186099090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.495000	0.81514	2.188000	0.69820	0.477000	0.44152	ATC	.	.	none		0.338	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		C	184616396	T	C	184616396	3	2	11	1	0	0	0	0	1	0	0	0	17215	1435	50	2	2134	2	VPS8	3	184616396	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	325589	184616396	13406034	137	2422										
LEPREL1	55214	hgsc.bcm.edu	37	chr3	189675751	189675751	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcatgcttcccttgctgttCttgatccagaattgcaatca	6	11	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:189675751C>T	ENST00000319332.5	-	15	2274	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E512K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	693					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTTGCTGTTCTTGATCCAGA	0.323											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E693K		Atlas-SNP	.											LEPREL1,NS,carcinoma,0,1	LEPREL1	95	1	0			c.G2077A						scavenged	.						214	199	204					3																	189675751		2203	4300	6503	SO:0001583	missense	55214	exon15			GCTGTTCTTGATC		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.2077G>A	3.37:g.189675751C>T	ENSP00000316881:p.Glu693Lys	Somatic	185	0	0	2032	WXS	Illumina HiSeq	Phase_I	205	4	0.0195122	NM_018192	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393038	0.62066	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.35973	1.28;1.61	4.89	4.89	0.63831	.	0.160826	0.56097	D	0.000031	T	0.22244	0.0536	N	0.14661	0.345	0.44289	D	0.997159	B	0.25667	0.131	B	0.18561	0.022	T	0.05683	-1.0870	9	.	.	.	-14.9178	16.1215	0.81361	0.0:1.0:0.0:0.0	.	693	Q8IVL5	P3H2_HUMAN	K	693;512	ENSP00000316881:E693K;ENSP00000408947:E512K	.	E	-	1	0	LEPREL1	191158445	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	2.632000	0.46511	2.648000	0.89879	0.650000	0.86243	GAA	.	.	none		0.323	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		T	189675751	C	T	189675751	3	4	11	1	0	0	0	0	1	0	0	0	8730	922	32	2	53	2	LEPREL1	3	189675751	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5059355	189675751	8346679	138	2423										
PYDC2	152138	hgsc.bcm.edu	37	chr3	191179233	191179233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctgatgaacactgtgtgatGcccccaccttaacccctcag	8	15	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:191179233G>A	ENST00000518817.1	+	1	282	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	94	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTGTGTGATGCCCCCACCTT	0.507																																					p.M94I		Atlas-SNP	.											PYDC2,NS,carcinoma,0,1	PYDC2	24	1	0			c.G282A						scavenged	.						83	86	85					3																	191179233		2106	4257	6363	SO:0001583	missense	152138	exon1			TGTGATGCCCCCA			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.282G>A	3.37:g.191179233G>A	ENSP00000428325:p.Met94Ile	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	119	4	0.0336134	NM_001083308		Missense_Mutation	SNP	ENST00000518817.1	37		.	.	.	.	.	.	.	.	.	.	G	2.961	-0.214674	0.06101	.	.	ENSG00000253548	ENST00000518817	T	0.63744	-0.06	0.158	0.158	0.14942	Pyrin (1);DEATH-like (1);	.	.	.	.	T	0.45577	0.1349	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.14578	0.011	T	0.38023	-0.9680	7	0.66056	D	0.02	.	.	.	.	.	94	Q56P42	PYDC2_HUMAN	I	94	ENSP00000428325:M94I	ENSP00000428325:M94I	M	+	3	0	PYDC2	192661927	0.012000	0.17670	0.006000	0.13384	0.006000	0.05464	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	ATG	.	.	none		0.507	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		A	191179233	G	A	191179233	3	1	11	1	0	0	0	0	1	0	0	0	12859	1319	46	2	284	2	PYDC2	3	191179233	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1503482	191179233	6843197	139	2424										
ATP13A5	344905	hgsc.bcm.edu	37	chr3	193051546	193051546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccccagtacttactccatggTacatatatacccctagggca	6	14	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:193051546T>C	ENST00000342358.4	-	11	1382	c.1265A>G	c.(1264-1266)tAc>tGc	p.Y422C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	422						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TACTCCATGGTACATATATAC	0.438																																					p.Y422C		Atlas-SNP	.											.	ATP13A5	171	.	0			c.A1265G						PASS	.						73	74	74					3																	193051546		2203	4300	6503	SO:0001583	missense	344905	exon11			CCATGGTACATAT	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1265A>G	3.37:g.193051546T>C	ENSP00000341942:p.Tyr422Cys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	112	29	0.258929	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904221	0.33628	.	.	ENSG00000187527	ENST00000342358	D	0.90620	-2.7	5.53	5.53	0.82687	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000010	D	0.92557	0.7636	L	0.55743	1.74	0.27566	N	0.950029	D	0.76494	0.999	D	0.68353	0.957	D	0.86778	0.1977	10	0.38643	T	0.18	-5.2622	9.8364	0.40971	0.153:0.0:0.0:0.847	.	422	Q4VNC0	AT135_HUMAN	C	422	ENSP00000341942:Y422C	ENSP00000341942:Y422C	Y	-	2	0	ATP13A5	194534240	0.000000	0.05858	0.943000	0.38184	0.061000	0.15899	0.525000	0.22956	2.111000	0.64477	0.528000	0.53228	TAC	.	.	none		0.438	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		C	193051546	T	C	193051546	3	2	11	1	0	0	0	0	1	0	0	0	1127	1638	57	2	2469	2	ATP13A5	3	193051546	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1872313	193051546	4970884	140	2425										
TNK2	10188	hgsc.bcm.edu	37	chr3	195605200	195605200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcaaagtcctgaagggcccGcatgtctgtgggctgggcct	14	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr3:195605200G>A	ENST00000333602.6	-	9	1797	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	TNK2_ENST00000381916.2_Missense_Mutation_p.R457W|TNK2_ENST00000392400.1_Missense_Mutation_p.R394W|TNK2_ENST00000428187.1_Missense_Mutation_p.R426W|TNK2_ENST00000316664.3_Missense_Mutation_p.R394W|TNK2_ENST00000468819.1_5'Flank	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	394	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGAAGGGCCCGCATGTCTGTG	0.617																																					p.R457W		Atlas-SNP	.											.	TNK2	246	.	0			c.C1369T						PASS	.						117	112	114					3																	195605200		2203	4300	6503	SO:0001583	missense	10188	exon9			GGGCCCGCATGTC	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1180C>T	3.37:g.195605200G>A	ENSP00000329425:p.Arg394Trp	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	212	47	0.221698	NM_001010938	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655314	0.67586	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.47	1.45	0.22620	Src homology-3 domain (3);Protein kinase-like domain (1);	0.181464	0.44097	D	0.000500	T	0.79941	0.4533	M	0.93507	3.425	0.45867	D	0.998722	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.70935	0.918;0.958;0.971;0.952	T	0.79374	-0.1830	10	0.72032	D	0.01	.	7.4437	0.27198	0.0839:0.0:0.3517:0.5644	.	270;394;457;426	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	W	394;457;426;394;394	ENSP00000329425:R394W;ENSP00000371341:R457W;ENSP00000392546:R426W;ENSP00000376201:R394W;ENSP00000323216:R394W	ENSP00000323216:R394W	R	-	1	2	TNK2	197089597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.601000	0.24119	0.491000	0.27793	0.655000	0.94253	CGG	.	.	none		0.617	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		A	195605200	G	A	195605200	3	1	11	1	0	0	0	0	1	0	0	0	16315	1086	38	1	2013	1	TNK2	3	195605200	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2553654	195605200	2417230	141	2426										
GRK4	2868	hgsc.bcm.edu	37	chr4	2986265	2986265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tatggcaaaaaaagtggtcgTagtaaaaaatggaaggagat	12	2	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:2986265T>C	ENST00000398052.4	+	2	421	c.78T>C	c.(76-78)cgT>cgC	p.R26R	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000504933.1_Silent_p.R26R|GRK4_ENST00000345167.6_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	26	N-terminal.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGTGGTCGTAGTAAAAAAT	0.393																																					p.R26R		Atlas-SNP	.											GRK4_ENST00000398052,NS,carcinoma,+2,3	GRK4	72	3	0			c.T78C						scavenged	.						88	83	85					4																	2986265		2203	4300	6503	SO:0001819	synonymous_variant	2868	exon2			TGGTCGTAGTAAA		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.78T>C	4.37:g.2986265T>C		Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	244	4	0.0163934	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	CCDS33946.1																																																																																			.	.	none		0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		C	2986265	T	C	2986265	2	2	11	1	0	0	0	0	0	0	0	1	6791	1625	57	2		2	GRK4	4	2986265	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10		2986265	188168011	142	2427										
HTT	3064	hgsc.bcm.edu	37	chr4	3129287	3129287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acagctcccagaccaccaccGaagggcctgattcagctgtt	9	15	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:3129287G>A	ENST00000355072.5	+	12	1844	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	567					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GACCACCACCGAAGGGCCTGA	0.537																																					p.E567K		Atlas-SNP	.											.	HTT	221	.	0			c.G1699A						PASS	.						50	54	53					4																	3129287		1997	4158	6155	SO:0001583	missense	3064	exon12			ACCACCGAAGGGC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1699G>A	4.37:g.3129287G>A	ENSP00000347184:p.Glu567Lys	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	226	92	0.40708	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190556	0.94923	.	.	ENSG00000197386	ENST00000355072	T	0.06768	3.26	4.84	4.84	0.62591	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01084	-1.1457	10	0.36615	T	0.2	.	17.722	0.88355	0.0:0.0:1.0:0.0	.	567	P42858	HD_HUMAN	K	567	ENSP00000347184:E567K	ENSP00000347184:E567K	E	+	1	0	HTT	3099085	1.000000	0.71417	0.958000	0.39756	0.941000	0.58515	9.017000	0.93651	2.533000	0.85409	0.655000	0.94253	GAA	.	.	none		0.537	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3129287	G	A	3129287	3	1	11	1	0	0	0	0	1	0	0	0	7457	1059	37	1	1745	1	HTT	4	3129287	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	143022	3129287	188024989	143	2428										
OTOP1	133060	hgsc.bcm.edu	37	chr4	4199791	4199791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agatggcagtgcacagagttGggggcgtgcagttacactgc	16	8	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:4199791G>A	ENST00000296358.4	-	5	794	c.770C>T	c.(769-771)cCa>cTa	p.P257L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	257					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCACAGAGTTGGGGGCGTGCA	0.532																																					p.P257L		Atlas-SNP	.											.	OTOP1	118	.	0			c.C770T						PASS	.						64	52	56					4																	4199791		2203	4300	6503	SO:0001583	missense	133060	exon5			AGAGTTGGGGGCG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.770C>T	4.37:g.4199791G>A	ENSP00000296358:p.Pro257Leu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	150	64	0.426667	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	5.616	0.298361	0.10622	.	.	ENSG00000163982	ENST00000296358	T	0.08807	3.05	4.56	2.75	0.32379	.	0.653632	0.15845	N	0.241839	T	0.08088	0.0202	L	0.44542	1.39	0.09310	N	1	B	0.31351	0.32	B	0.30716	0.119	T	0.24905	-1.0147	10	0.59425	D	0.04	.	7.7448	0.28862	0.0786:0.0:0.6134:0.3079	.	257	Q7RTM1	OTOP1_HUMAN	L	257	ENSP00000296358:P257L	ENSP00000296358:P257L	P	-	2	0	OTOP1	4250692	0.283000	0.24277	0.001000	0.08648	0.003000	0.03518	1.794000	0.38774	0.426000	0.26116	0.404000	0.27445	CCA	.	.	none		0.532	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4199791	G	A	4199791	3	1	11	1	0	0	0	0	1	0	0	0	11305	1348	47	2	1076	2	OTOP1	4	4199791	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1070504	4199791	186954485	144	2429										
SH3TC1	54436	hgsc.bcm.edu	37	chr4	8224646	8224646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttctgaggaggatgccaggCagttgctgaggcggatgtcg	17	7	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:8224646C>T	ENST00000245105.3	+	10	1259	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.Q322*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	398										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGATGCCAGGCAGTTGCTGAG	0.547																																					p.Q398X	NSCLC(145;2298 2623 35616 37297)	Atlas-SNP	.											.	SH3TC1	105	.	0			c.C1192T						PASS	.						87	79	81					4																	8224646		2203	4300	6503	SO:0001587	stop_gained	54436	exon10			GCCAGGCAGTTGC	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1192C>T	4.37:g.8224646C>T	ENSP00000245105:p.Gln398*	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	95	45	0.473684	NM_018986	Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366069	0.41902	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	.	.	.	4.31	1.4	0.22301	.	1.151220	0.06322	N	0.704583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-11.1481	8.0625	0.30642	0.2675:0.4488:0.2837:0.0	.	.	.	.	X	136;398;322;227;180	.	ENSP00000245105:Q398X	Q	+	1	0	SH3TC1	8275546	0.425000	0.25498	0.001000	0.08648	0.170000	0.22686	0.931000	0.28871	-0.047000	0.13423	0.561000	0.74099	CAG	.	.	none		0.547	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8224646	C	T	8224646	4	4	11	1	0	0	0	0	0	1	0	0	14261	711	25	2	1226	2	SH3TC1	4	8224646	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4024855	8224646	182929630	145	2430										
PCDH7	5099	hgsc.bcm.edu	37	chr4	30725116	30725116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttttctattgaaaatgacaCggggaccatttactccacaa	6	9	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:30725116C>T	ENST00000361762.2	+	1	3080	c.2072C>T	c.(2071-2073)aCg>aTg	p.T691M	PCDH7_ENST00000543491.1_Missense_Mutation_p.T691M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	691	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAAATGACACGGGGACCATT	0.488																																					p.T691M		Atlas-SNP	.											.	PCDH7	215	.	0			c.C2072T						PASS	.						118	118	118					4																	30725116		2203	4300	6503	SO:0001583	missense	5099	exon1			ATGACACGGGGAC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2072C>T	4.37:g.30725116C>T	ENSP00000355243:p.Thr691Met	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431137	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.58060	0.36;0.36	5.25	5.25	0.73442	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.80706	0.4674	M	0.93808	3.46	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85549	0.1220	9	0.87932	D	0	.	19.0454	0.93018	0.0:1.0:0.0:0.0	.	691;644;691	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	M	691;691;644	ENSP00000355243:T691M;ENSP00000441802:T691M	ENSP00000330302:T644M	T	+	2	0	PCDH7	30334214	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	7.647000	0.83462	2.722000	0.93159	0.655000	0.94253	ACG	.	.	none		0.488	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30725116	C	T	30725116	3	4	11	1	0	0	0	0	1	0	0	0	11516	536	19	1	2074	1	PCDH7	4	30725116	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	22500470	30725116	160429160	146	2431										
YIPF7	285525	hgsc.bcm.edu	37	chr4	44652108	44652108	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atcagagtcaaattgtgccaAgtttgacatcctgaaaaata	7	7	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:44652108A>C	ENST00000332990.5	-	2	98	c.82T>G	c.(82-84)Ttg>Gtg	p.L28V	YIPF7_ENST00000415895.4_Missense_Mutation_p.L4V	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	28						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AATTGTGCCAAGTTTGACATC	0.299																																					p.L28V		Atlas-SNP	.											.	YIPF7	33	.	0			c.T82G						PASS	.						39	36	37					4																	44652108		1809	4068	5877	SO:0001583	missense	285525	exon2			GTGCCAAGTTTGA	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.82T>G	4.37:g.44652108A>C	ENSP00000332772:p.Leu28Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	101	45	0.445545	NM_182592	Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.39|12.39	1.923362|1.923362	0.33908|0.33908	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000415895|ENST00000332990	.|T	.|0.43294	.|0.95	5.45|5.45	0.453|0.453	0.16639|0.16639	.|.	.|.	.|.	.|.	.|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.23806	.|0.091;0.002	.|B;B	.|0.19946	.|0.027;0.009	T|T	0.19516|0.19516	-1.0303|-1.0303	5|9	.|0.16896	.|T	.|0.51	-0.5497|-0.5497	0.8365|0.8365	0.01141|0.01141	0.5011:0.1696:0.1654:0.1639|0.5011:0.1696:0.1654:0.1639	.|.	.|28;28	.|Q8N8F6-4;Q8N8F6	.|.;YIPF7_HUMAN	R|V	4|28	.|ENSP00000332772:L28V	.|ENSP00000332772:L28V	L|L	-|-	2|1	0|2	YIPF7|YIPF7	44346865|44346865	0.980000|0.980000	0.34600|0.34600	0.977000|0.977000	0.42913|0.42913	0.976000|0.976000	0.68499|0.68499	0.167000|0.167000	0.16602|0.16602	0.549000|0.549000	0.28973|0.28973	0.524000|0.524000	0.50904|0.50904	CTT|TTG	.	.	none		0.299	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		C	44652108	A	C	44652108	3	2	11	1	0	0	0	0	1	0	0	0	17480	69	3	5	780	5	YIPF7	4	44652108	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	13926992	44652108	146502168	147	2432										
GABRB1	2560	hgsc.bcm.edu	37	chr4	47427752	47427752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccggaatgagacgagtggctCggaagtgctcacgagcgtga	16	9	1	2	rs539587921		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:47427752C>T	ENST00000295454.3	+	9	1434	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	GABRB1_ENST00000538619.1_Missense_Mutation_p.S311L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	381					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGAGTGGCTCGGAAGTGCTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16678	0.0		0.0	False		,,,				2504	0.001				p.S381L		Atlas-SNP	.											GABRB1,NS,carcinoma,-1,1	GABRB1	107	1	0			c.C1142T						PASS	.						64	66	66					4																	47427752		2203	4300	6503	SO:0001583	missense	2560	exon9			GTGGCTCGGAAGT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1142C>T	4.37:g.47427752C>T	ENSP00000295454:p.Ser381Leu	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	74	30	0.405405	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976578	0.34848	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84370	-1.84;-1.84	5.48	4.64	0.57946	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.455620	0.05312	U	0.524982	T	0.80199	0.4579	N	0.21097	0.63	0.47441	D	0.999423	B;B	0.18013	0.025;0.004	B;B	0.13407	0.009;0.003	T	0.56105	-0.8034	10	0.40728	T	0.16	-5.7084	14.2643	0.66107	0.0:0.9292:0.0:0.0708	.	311;381	F5GXV5;P18505	.;GBRB1_HUMAN	L	381;311	ENSP00000295454:S381L;ENSP00000440330:S311L	ENSP00000295454:S381L	S	+	2	0	GABRB1	47122509	0.997000	0.39634	0.890000	0.34922	0.042000	0.13812	3.301000	0.51842	1.558000	0.49541	0.650000	0.86243	TCG	.	.	none		0.597	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			T	47427752	C	T	47427752	3	4	11	1	0	0	0	0	1	0	0	0	6166	893	31	1	1176	1	GABRB1	4	47427752	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2775644	47427752	143726524	148	2433										
ATP10D	57205	hgsc.bcm.edu	37	chr4	47593309	47593309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtgctattgagcaaggaaacTtatctctgtgtgaaactgct	10	7	1	2	rs536235043	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:47593309T>G	ENST00000273859.3	+	23	4461	c.4192T>G	c.(4192-4194)Tta>Gta	p.L1398V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1398					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCAAGGAAACTTATCTCTGTG	0.458																																					p.L1398V		Atlas-SNP	.											.	ATP10D	168	.	0			c.T4192G						PASS	.						144	143	143					4																	47593309		2203	4299	6502	SO:0001583	missense	57205	exon23			GGAAACTTATCTC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4192T>G	4.37:g.47593309T>G	ENSP00000273859:p.Leu1398Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	71	28	0.394366	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239183	0.22711	.	.	ENSG00000145246	ENST00000273859	T	0.38722	1.12	4.33	-8.66	0.00866	.	4.506970	0.00166	N	0.000015	T	0.31040	0.0784	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.10636	T	0.68	11.4644	9.5229	0.39147	0.4141:0.0:0.4591:0.1268	.	1398	Q9P241	AT10D_HUMAN	V	1398	ENSP00000273859:L1398V	ENSP00000273859:L1398V	L	+	1	2	ATP10D	47288066	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-2.282000	0.01156	-3.824000	0.00102	-0.898000	0.02899	TTA	.	.	none		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		G	47593309	T	G	47593309	3	3	11	1	0	0	0	0	1	0	0	0	1118	1606	56	5	4278	5	ATP10D	4	47593309	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	165557	47593309	143560967	149	2434										
SCFD2	152579	hgsc.bcm.edu	37	chr4	54231638	54231638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcaacaggggcaagcaataaCgggacatggaacacctcggc	13	11	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:54231638C>T	ENST00000401642.3	-	1	604	c.471G>A	c.(469-471)ccG>ccA	p.P157P	SCFD2_ENST00000388940.4_Silent_p.P157P	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	157					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAAGCAATAACGGGACATGGA	0.572																																					p.P157P		Atlas-SNP	.											SCFD2,NS,carcinoma,-1,1	SCFD2	78	1	0			c.G471A						scavenged	.						87	74	78					4																	54231638		2203	4300	6503	SO:0001819	synonymous_variant	152579	exon1			CAATAACGGGACA	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.471G>A	4.37:g.54231638C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	CCDS33984.1																																																																																			.	.	none		0.572	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		T	54231638	C	T	54231638	2	4	11	1	0	0	0	0	0	0	0	1	13890	523	19	1		1	SCFD2	4	54231638	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	6638329	54231638	136922638	150	2435										
NPFFR2	10886	hgsc.bcm.edu	37	chr4	72994352	72994352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcttcagaaaactggcatcCcatctggaatgtcaatgaca	7	11	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:72994352C>T	ENST00000308744.6	+	2	448	c.350C>T	c.(349-351)cCc>cTc	p.P117L	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P15L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P18L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	117					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AACTGGCATCCCATCTGGAAT	0.368																																					p.P117L		Atlas-SNP	.											NPFFR2,NS,malignant_melanoma,+1,1	NPFFR2	98	1	0			c.C350T						scavenged	.						100	90	93					4																	72994352		2203	4300	6503	SO:0001583	missense	10886	exon2			GGCATCCCATCTG	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.350C>T	4.37:g.72994352C>T	ENSP00000307822:p.Pro117Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	156	2	0.0128205	NM_004885	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	4.785	0.146025	0.09134	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35789	1.29;1.29;1.29	5.9	-1.11	0.09840	.	1.028200	0.07712	N	0.942143	T	0.13841	0.0335	N	0.03608	-0.345	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.15870	0.0;0.014	T	0.30937	-0.9961	10	0.07175	T	0.84	.	8.0353	0.30488	0.2517:0.5885:0.0613:0.0984	.	18;117	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	117;18;15	ENSP00000307822:P117L;ENSP00000379321:P18L;ENSP00000351599:P15L	ENSP00000307822:P117L	P	+	2	0	NPFFR2	73213216	0.002000	0.14202	0.000000	0.03702	0.044000	0.14063	1.344000	0.33941	-0.330000	0.08514	-0.813000	0.03139	CCC	.	.	none		0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		T	72994352	C	T	72994352	3	4	11	1	0	0	0	0	1	0	0	0	10578	623	22	2	362	2	NPFFR2	4	72994352	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	18762714	72994352	118159924	151	2436										
CDKL2	8999	hgsc.bcm.edu	37	chr4	76507055	76507055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aatggttctcagtgctggtgTtccatttgaggcaaatcagc	11	8	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:76507055T>G	ENST00000429927.2	-	11	2173	c.1470A>C	c.(1468-1470)gaA>gaC	p.E490D	CDKL2_ENST00000307465.4_Missense_Mutation_p.E567D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	490					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTGCTGGTGTTCCATTTGAG	0.428																																					p.E490D		Atlas-SNP	.											.	CDKL2	58	.	0			c.A1470C						PASS	.						88	81	83					4																	76507055		2203	4300	6503	SO:0001583	missense	8999	exon11			CTGGTGTTCCATT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1470A>C	4.37:g.76507055T>G	ENSP00000412365:p.Glu490Asp	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	40	0.43956	NM_003948	B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528127	0.27299	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72725	-0.55;-0.68	4.75	-5.16	0.02857	.	.	.	.	.	T	0.65647	0.2711	N	0.08118	0	0.21627	N	0.999612	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	T	0.65117	-0.6246	9	0.87932	D	0	-14.3407	13.6115	0.62080	0.0:0.6766:0.0:0.3234	.	567;490	B4DH08;Q92772	.;CDKL2_HUMAN	D	490;567	ENSP00000412365:E490D;ENSP00000306340:E567D	ENSP00000306340:E567D	E	-	3	2	CDKL2	76726079	0.746000	0.28272	0.961000	0.40146	0.689000	0.40095	-0.848000	0.04326	-0.800000	0.04433	-0.424000	0.05967	GAA	.	.	none		0.428	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		G	76507055	T	G	76507055	3	3	11	1	0	0	0	0	1	0	0	0	3154	1722	60	5	15	5	CDKL2	4	76507055	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	3512703	76507055	114647221	152	2437										
ANTXR2	118429	hgsc.bcm.edu	37	chr4	80899206	80899206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaggaggctggtgtgtgggTttgggtcgaggtggtctagg	22	3	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:80899206T>C	ENST00000307333.7	-	15	1304	c.1302A>G	c.(1300-1302)aaA>aaG	p.K434K	ANTXR2_ENST00000403729.2_Silent_p.K434K|ANTXR2_ENST00000346652.6_Silent_p.K331K|ANTXR2_ENST00000404191.1_Silent_p.K357K	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	434					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTGTGTGGGTTTGGGTCGAG	0.453									Juvenile Hyaline Fibromatosis																												p.K434K		Atlas-SNP	.											.	ANTXR2	97	.	0			c.A1302G						PASS	.						275	269	271					4																	80899206		1922	4130	6052	SO:0001819	synonymous_variant	118429	exon15	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	TGTGGGTTTGGGT	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1302A>G	4.37:g.80899206T>C		Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	296	105	0.35473	NM_001145794	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	CCDS47086.1																																																																																			.	.	none		0.453	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		C	80899206	T	C	80899206	2	2	11	1	0	0	0	0	0	0	0	1	712	1722	60	2		2	ANTXR2	4	80899206	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	4392151	80899206	110255070	153	2438										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537700	88537700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtgaaggcagtgacagtaacCactcaaccagtgatgattag	11	8	1	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:88537700C>A	ENST00000282478.7	+	4	3919	c.3886C>A	c.(3886-3888)Cac>Aac	p.H1296N	DSPP_ENST00000399271.1_Missense_Mutation_p.H1296N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1296	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagtAACCACTCAACCAG	0.398																																					p.H1296N		Atlas-SNP	.											DSPP,NS,carcinoma,0,1	DSPP	174	1	0			c.C3886A						scavenged	.						90	98	95					4																	88537700		1528	2824	4352	SO:0001583	missense	1834	exon5			AGTAACCACTCAA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3886C>A	4.37:g.88537700C>A	ENSP00000282478:p.His1296Asn	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	191	3	0.0157068	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174135	0.21704	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	3.94	3.94	0.45596	.	0.485875	0.15384	N	0.265146	T	0.74966	0.3786	N	0.19112	0.55	0.20703	N	0.999866	B	0.32573	0.376	B	0.33339	0.162	T	0.61023	-0.7146	10	0.06236	T	0.91	-10.4375	11.649	0.51277	0.0:1.0:0.0:0.0	.	1296	Q9NZW4	DSPP_HUMAN	N	1296	ENSP00000382213:H1296N;ENSP00000282478:H1296N	ENSP00000282478:H1296N	H	+	1	0	DSPP	88756724	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.964000	0.40462	2.200000	0.70718	0.460000	0.39030	CAC	.	.	none		0.398	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537700	C	A	88537700	3	1	11	1	0	0	0	0	1	0	0	0	4782	594	21	4	3900	4	DSPP	4	88537700	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7638494	88537700	102616576	154	2439										
DMP1	1758	hgsc.bcm.edu	37	chr4	88580612	88580612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gagtcatcagaaggcagtaaAgttagctcagaggaacaggt	13	6	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:88580612A>C	ENST00000339673.6	+	5	264	c.165A>C	c.(163-165)aaA>aaC	p.K55N	DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	55					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AAGGCAGTAAAGTTAGCTCAG	0.358																																					p.K55N		Atlas-SNP	.											.	DMP1	72	.	0			c.A165C						PASS	.						102	109	107					4																	88580612		2203	4300	6503	SO:0001583	missense	1758	exon5			CAGTAAAGTTAGC	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.165A>C	4.37:g.88580612A>C	ENSP00000340935:p.Lys55Asn	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	175	61	0.348571	NM_004407	A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371693	0.24771	.	.	ENSG00000152592	ENST00000339673	T	0.52754	0.65	6.07	4.86	0.63082	.	0.309128	0.27787	N	0.017854	T	0.53045	0.1772	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	D	0.63793	0.918	T	0.52313	-0.8592	10	0.51188	T	0.08	-8.5836	10.2286	0.43241	0.8335:0.1665:0.0:0.0	.	55	Q13316	DMP1_HUMAN	N	55	ENSP00000340935:K55N	ENSP00000340935:K55N	K	+	3	2	DMP1	88799636	1.000000	0.71417	0.987000	0.45799	0.071000	0.16799	1.915000	0.39976	1.066000	0.40716	0.533000	0.62120	AAA	.	.	none		0.358	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			C	88580612	A	C	88580612	3	2	11	1	0	0	0	0	1	0	0	0	4583	69	3	5	179	5	DMP1	4	88580612	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	42912	88580612	102573664	155	2440										
HERC5	51191	hgsc.bcm.edu	37	chr4	89427002	89427002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaagaagcgcttcaagaagcCatcaacaacaacagaggatt	9	9	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:89427002C>T	ENST00000264350.3	+	23	3201	c.3048C>T	c.(3046-3048)gcC>gcT	p.A1016A	HERC5_ENST00000508159.1_Silent_p.A654A	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1016	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTCAAGAAGCCATCAACAACA	0.408																																					p.A1016A	Esophageal Squamous(39;887 1012 34045 50514)	Atlas-SNP	.											.	HERC5	114	.	0			c.C3048T						PASS	.						59	59	59					4																	89427002		2203	4300	6503	SO:0001819	synonymous_variant	51191	exon23			AGAAGCCATCAAC	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3048C>T	4.37:g.89427002C>T		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	173	68	0.393064	NM_016323	B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																			.	.	none		0.408	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89427002	C	T	89427002	2	4	11	1	0	0	0	0	0	0	0	1	7061	581	21	2		2	HERC5	4	89427002	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	846390	89427002	101727274	156	2441										
FAT4	79633	hgsc.bcm.edu	37	chr4	126239318	126239318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaaaagccagtatttagccaGccagaagggtatgatgtgtc	12	7	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:126239318G>A	ENST00000394329.3	+	1	1765	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTTAGCCAGCCAGAAGGGT	0.517																																					p.Q584Q		Atlas-SNP	.											.	FAT4	1752	.	0			c.G1752A						PASS	.						68	71	70					4																	126239318		2007	4176	6183	SO:0001819	synonymous_variant	79633	exon1			TAGCCAGCCAGAA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1752G>A	4.37:g.126239318G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			.	.	none		0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126239318	G	A	126239318	2	1	11	1	0	0	0	0	0	0	0	1	5692	962	34	2		2	FAT4	4	126239318	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	36812316	126239318	64914958	157	2442										
FAT4	79633	hgsc.bcm.edu	37	chr4	126408517	126408517	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagattaagaatggcaaagtAtattttacatccgatgcagg	9	6	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:126408517A>G	ENST00000394329.3	+	16	12847	c.12834A>G	c.(12832-12834)gtA>gtG	p.V4278V	FAT4_ENST00000335110.5_Silent_p.V2519V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4278	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGGCAAAGTATATTTTACAT	0.299																																					p.V4278V		Atlas-SNP	.											.	FAT4	1752	.	0			c.A12834G						PASS	.						48	51	50					4																	126408517		2203	4298	6501	SO:0001819	synonymous_variant	79633	exon16			CAAAGTATATTTT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12834A>G	4.37:g.126408517A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	36	10	0.277778	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			.	.	none		0.299	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126408517	A	G	126408517	2	3	11	1	0	0	0	0	0	0	0	1	5692	436	16	2		2	FAT4	4	126408517	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	169199	126408517	64745759	158	2443										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																					p.Q494Q		Atlas-SNP	.											MAML3_ENST00000509479,NS,malignant_melanoma,0,2	MAML3	192	2	0			c.G1482A						scavenged	.						14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534	exon2			CTGCTGCTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	66	2	0.030303	NM_018717		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																			.	.	none		0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811108	C	T	140811108	2	4	11	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	14402591	140811108	50343168	159	2444										
INPP4B	8821	hgsc.bcm.edu	37	chr4	143003328	143003328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaaacgaataccattcagtTtgcggcaaatctgtaacata	7	8	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:143003328T>G	ENST00000513000.1	-	26	2931	c.2498A>C	c.(2497-2499)aAa>aCa	p.K833T	INPP4B_ENST00000509777.1_Missense_Mutation_p.K833T|INPP4B_ENST00000508116.1_Missense_Mutation_p.K833T|INPP4B_ENST00000308502.4_Missense_Mutation_p.K833T|INPP4B_ENST00000262992.4_Missense_Mutation_p.K833T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	833					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACCATTCAGTTTGCGGCAAAT	0.413																																					p.K833T		Atlas-SNP	.											.	INPP4B	132	.	0			c.A2498C						PASS	.						141	125	130					4																	143003328		2203	4300	6503	SO:0001583	missense	8821	exon26			TTCAGTTTGCGGC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2498A>C	4.37:g.143003328T>G	ENSP00000425487:p.Lys833Thr	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	227	97	0.427313	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.99|19.99	3.928315|3.928315	0.73327|0.73327	.|.	.|.	ENSG00000109452|ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838|ENST00000542702	T;T;T;T;T;T|.	0.23754|.	1.89;1.89;1.89;1.89;1.89;1.89|.	5.7|5.7	4.52|4.52	0.55395|0.55395	.|.	0.050528|.	0.85682|.	D|.	0.000000|.	T|T	0.65739|0.65739	0.2720|0.2720	M|M	0.61703|0.61703	1.905|1.905	0.47037|0.47037	D|D	0.999293|0.999293	D|.	0.62365|.	0.991|.	P|.	0.59703|.	0.862|.	T|T	0.67745|0.67745	-0.5591|-0.5591	10|6	0.56958|0.87932	D|D	0.05|0	.|.	11.4577|11.4577	0.50191|0.50191	0.0:0.0702:0.0:0.9298|0.0:0.0702:0.0:0.9298	.|.	833|.	O15327|.	INP4B_HUMAN|.	T|H	833;833;833;833;833;648|647	ENSP00000425487:K833T;ENSP00000262992:K833T;ENSP00000308441:K833T;ENSP00000423954:K833T;ENSP00000422793:K833T;ENSP00000426207:K648T|.	ENSP00000262992:K833T|ENSP00000446046:Q647H	K|Q	-|-	2|3	0|2	INPP4B|INPP4B	143222778|143222778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.389000|4.389000	0.59639|0.59639	1.001000|1.001000	0.39076|0.39076	0.455000|0.455000	0.32223|0.32223	AAA|CAA	.	.	none		0.413	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		G	143003328	T	G	143003328	3	3	11	1	0	0	0	0	1	0	0	0	7753	1841	64	5	284	5	INPP4B	4	143003328	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2192220	143003328	48150948	160	2445										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccatagccattgaaatggatAagggaacctatatacatgca	8	8	0	1	rs112612436		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																					p.K66E		Atlas-SNP	.											FRG1,arm,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.A196G						scavenged	.						101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483	exon3			ATGGATAAGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic	132	22	0.166667		WXS	Illumina HiSeq	Phase_I	73	9	0.123288	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG	.	.	weak		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	11	1	0	0	0	0	1	0	0	0	6046	363	13	2	206	2	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	47870051	190873379	280897	161	2446										
FRG1	2483	hgsc.bcm.edu	37	chr4	190876268	190876268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgttgggcgttcagatgcaAttggaccaagagaacaatgg	13	6	1	2	rs528665769		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr4:190876268A>G	ENST00000226798.4	+	5	616	c.394A>G	c.(394-396)Att>Gtt	p.I132V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	132					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGATGCAATTGGACCAAG	0.358																																					p.I132V		Atlas-SNP	.											FRG1,trunk,malignant_melanoma,-1,1	FRG1	76	1	0			c.A394G						scavenged	.						91	91	91					4																	190876268		2203	4300	6503	SO:0001583	missense	2483	exon5			GATGCAATTGGAC	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.394A>G	4.37:g.190876268A>G	ENSP00000226798:p.Ile132Val	Somatic	362	0	0		WXS	Illumina HiSeq	Phase_I	250	4	0.016	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749824	0.30955	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.0;0.93	4.04	4.04	0.47022	Actin cross-linking (1);	0.133249	0.64402	D	0.000004	T	0.31918	0.0812	L	0.42686	1.345	0.80722	D	1	B	0.18741	0.03	B	0.26693	0.072	T	0.07009	-1.0795	10	0.06891	T	0.86	2.1537	11.3071	0.49342	1.0:0.0:0.0:0.0	.	132	Q14331	FRG1_HUMAN	V	132;69	ENSP00000226798:I132V;ENSP00000435943:I69V	ENSP00000226798:I132V	I	+	1	0	FRG1	191113262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.599000	0.50093	0.462000	0.41574	ATT	.	.	none		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876268	A	G	190876268	3	3	11	1	0	0	0	0	1	0	0	0	6046	101	4	2	412	2	FRG1	4	190876268	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	2889	190876268	278008	162	2447										
ADCY2	108	hgsc.bcm.edu	37	chr5	7709382	7709382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccacacccttgatggagccaAaatgagggcctcggtccgca	11	14	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:7709382A>C	ENST00000338316.4	+	10	1549	c.1460A>C	c.(1459-1461)aAa>aCa	p.K487T	ADCY2_ENST00000537121.1_Missense_Mutation_p.K307T|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	487					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GATGGAGCCAAAATGAGGGCC	0.592																																					p.K487T		Atlas-SNP	.											.	ADCY2	337	.	0			c.A1460C						PASS	.						73	65	68					5																	7709382		2203	4300	6503	SO:0001583	missense	108	exon10			GAGCCAAAATGAG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1460A>C	5.37:g.7709382A>C	ENSP00000342952:p.Lys487Thr	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	a	19.22	3.785732	0.70337	.	.	ENSG00000078295	ENST00000338316;ENST00000537121	T;D	0.82526	-1.15;-1.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.81497	2.545	0.50313	D	0.999862	B;B	0.18461	0.015;0.028	B;B	0.25759	0.041;0.063	T	0.82548	-0.0402	10	0.52906	T	0.07	.	15.8247	0.78690	1.0:0.0:0.0:0.0	.	307;487	B7Z2C1;Q08462	.;ADCY2_HUMAN	T	487;307	ENSP00000342952:K487T;ENSP00000444803:K307T	ENSP00000342952:K487T	K	+	2	0	ADCY2	7762382	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.844000	0.69430	2.137000	0.66172	0.456000	0.33151	AAA	.	.	none		0.592	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		C	7709382	A	C	7709382	3	2	11	1	0	0	0	0	1	0	0	0	294	14	1	5	1498	5	ADCY2	5	7709382	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10		7709382	173205878	163	2448										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9066712	9066712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccagggtgtccagggcgtgGtcttcttcagctcaggacac	13	12	4	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:9066712G>T	ENST00000382496.5	-	17	2785	c.2120C>A	c.(2119-2121)aCc>aAc	p.T707N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	707	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGGGCGTGGTCTTCTTCAG	0.557																																					p.T707N		Atlas-SNP	.											.	SEMA5A	236	.	0			c.C2120A						PASS	.						167	154	158					5																	9066712		2203	4300	6503	SO:0001583	missense	9037	exon17			GGCGTGGTCTTCT	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2120C>A	5.37:g.9066712G>T	ENSP00000371936:p.Thr707Asn	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	129	51	0.395349	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932750	0.18131	.	.	ENSG00000112902	ENST00000382496	T	0.36520	1.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	N	0.14661	0.345	0.54753	D	0.999989	B	0.20550	0.046	B	0.16722	0.016	T	0.07849	-1.0751	10	0.07325	T	0.83	.	12.2699	0.54700	0.0:0.0:0.8304:0.1696	.	707	Q13591	SEM5A_HUMAN	N	707	ENSP00000371936:T707N	ENSP00000371936:T707N	T	-	2	0	SEMA5A	9119712	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.149000	0.71795	2.761000	0.94854	0.591000	0.81541	ACC	.	.	none		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9066712	G	T	9066712	3	4	11	1	0	0	0	0	1	0	0	0	14037	1261	44	4	1132	4	SEMA5A	5	9066712	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1357330	9066712	171848548	164	2449										
TRIO	7204	hgsc.bcm.edu	37	chr5	14359502	14359502	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtaacaagaccccccacaaCagctccatcaaccacattga	4	16	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:14359502C>G	ENST00000344204.4	+	13	2277	c.2253C>G	c.(2251-2253)aaC>aaG	p.N751K	TRIO_ENST00000509967.2_Missense_Mutation_p.N702K|TRIO_ENST00000537187.1_Missense_Mutation_p.N751K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	751					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCCCCACAACAGCTCCATCA	0.542																																					p.N751K		Atlas-SNP	.											.	TRIO	305	.	0			c.C2253G						PASS	.						89	86	87					5																	14359502		2203	4300	6503	SO:0001583	missense	7204	exon13			CCACAACAGCTCC	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2253C>G	5.37:g.14359502C>G	ENSP00000339299:p.Asn751Lys	Somatic	456	0	0		WXS	Illumina HiSeq	Phase_I	376	155	0.412234	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940315	0.52972	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.56444	1.01;1.01;0.46	5.31	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	N	0.08118	0	0.53688	D	0.999978	P;D;B	0.58970	0.486;0.984;0.295	B;P;B	0.58454	0.205;0.839;0.091	T	0.38200	-0.9672	10	0.33141	T	0.24	.	11.5233	0.50565	0.0:0.855:0.0:0.145	.	702;751;751	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	K	751;751;702;438	ENSP00000339299:N751K;ENSP00000446348:N751K;ENSP00000445592:N702K	ENSP00000339299:N751K	N	+	3	2	TRIO	14412502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	0.631000	0.30412	0.650000	0.86243	AAC	.	.	none		0.542	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14359502	C	G	14359502	3	3	11	1	0	0	0	0	1	0	0	0	16549	477	17	4	2303	4	TRIO	5	14359502	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5292790	14359502	166555758	165	2450										
PLCXD3	345557	hgsc.bcm.edu	37	chr5	41381956	41381956	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gattgtttctctgaggccacTtgccacccctttgaccacag	8	14	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:41381956T>G	ENST00000377801.3	-	2	858	c.784A>C	c.(784-786)Agt>Cgt	p.S262R	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S262R			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	262					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGAGGCCACTTGCCACCCCT	0.418																																					p.S262R		Atlas-SNP	.											.	PLCXD3	86	.	0			c.A784C						PASS	.						80	84	83					5																	41381956		2203	4300	6503	SO:0001583	missense	345557	exon2			GGCCACTTGCCAC		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.784A>C	5.37:g.41381956T>G	ENSP00000367032:p.Ser262Arg	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	144	54	0.375	NM_001005473	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980845	0.53827	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	4.9	0.64082	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.036051	0.85682	D	0.000000	T	0.65059	0.2655	L	0.48642	1.525	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.59841	-0.7378	9	0.15499	T	0.54	-11.2139	12.7602	0.57359	0.1231:0.0:0.0:0.8769	.	262	Q63HM9	PLCX3_HUMAN	R	262	.	ENSP00000333751:S262R	S	-	1	0	PLCXD3	41417713	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.912000	0.56386	1.097000	0.41459	0.533000	0.62120	AGT	.	.	none		0.418	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		G	41381956	T	G	41381956	3	3	11	1	0	0	0	0	1	0	0	0	12043	1609	56	5	189	5	PLCXD3	5	41381956	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	27022454	41381956	139533304	166	2451										
SKIV2L2	23517	hgsc.bcm.edu	37	chr5	54641000	54641000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atttggccaaaggagaccagAaagggcggaaaggaggaaca	15	6	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:54641000A>G	ENST00000230640.5	+	10	1338	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.K261E	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	362					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGGAGACCAGAAAGGGCGGAA	0.358																																					p.K362E	Melanoma(2;92 134 23744 29976 33782)	Atlas-SNP	.											SKIV2L2,NS,carcinoma,-2,1	SKIV2L2	104	1	0			c.A1084G						scavenged	.						57	61	60					5																	54641000		2203	4300	6503	SO:0001583	missense	23517	exon10			GACCAGAAAGGGC	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1084A>G	5.37:g.54641000A>G	ENSP00000230640:p.Lys362Glu	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	143	4	0.027972	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754859	0.69648	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.44881	0.91;0.91	5.38	5.38	0.77491	.	0.203730	0.53938	D	0.000060	T	0.46464	0.1394	M	0.75615	2.305	0.80722	D	1	B;B	0.33940	0.433;0.047	B;B	0.36244	0.22;0.04	T	0.41502	-0.9505	10	0.23302	T	0.38	-22.2468	15.6677	0.77242	1.0:0.0:0.0:0.0	.	261;362	F5H7E2;P42285	.;SK2L2_HUMAN	E	362;261	ENSP00000230640:K362E;ENSP00000442583:K261E	ENSP00000230640:K362E	K	+	1	0	SKIV2L2	54676757	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.735000	0.91549	2.164000	0.68074	0.477000	0.44152	AAA	.	.	none		0.358	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			G	54641000	A	G	54641000	3	3	11	1	0	0	0	0	1	0	0	0	14360	247	9	2	1122	2	SKIV2L2	5	54641000	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	13259044	54641000	126274260	167	2452										
MAP3K1	4214	hgsc.bcm.edu	37	chr5	56189428	56189428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttacgagatgtggctcttcGttgtttagaacttcaacctc	8	9	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:56189428G>A	ENST00000399503.3	+	20	4460	c.4460G>A	c.(4459-4461)cGt>cAt	p.R1487H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTGGCTCTTCGTTGTTTAGAA	0.448																																					p.R1487H		Atlas-SNP	.											MAP3K1,colon,carcinoma,+1,1	MAP3K1	355	1	0			c.G4460A						scavenged	.						132	125	127					5																	56189428		1966	4168	6134	SO:0001583	missense	4214	exon20			CTCTTCGTTGTTT	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4460G>A	5.37:g.56189428G>A	ENSP00000382423:p.Arg1487His	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	169	2	0.0118343	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199784	0.94997	.	.	ENSG00000095015	ENST00000399503	T	0.67345	-0.26	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80313	-0.1435	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1487	Q13233	M3K1_HUMAN	H	1487	ENSP00000382423:R1487H	ENSP00000382423:R1487H	R	+	2	0	MAP3K1	56225185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.554000	0.90689	2.873000	0.98535	0.561000	0.74099	CGT	.	.	none		0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		A	56189428	G	A	56189428	3	1	11	1	0	0	0	0	1	0	0	0	9243	1145	40	1	4538	1	MAP3K1	5	56189428	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1548428	56189428	124725832	168	2453										
HMGCR	3156	hgsc.bcm.edu	37	chr5	74655105	74655105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aacgcccatgcagcaaacatTgtcaccgccatctacattgc	6	15	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:74655105T>G	ENST00000287936.4	+	17	2424	c.2268T>G	c.(2266-2268)atT>atG	p.I756M	HMGCR_ENST00000343975.5_Missense_Mutation_p.I703M|HMGCR_ENST00000511206.1_Missense_Mutation_p.I756M	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	756	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAGCAAACATTGTCACCGCCA	0.458																																					p.I756M		Atlas-SNP	.											.	HMGCR	53	.	0			c.T2268G						PASS	.						102	95	97					5																	74655105		2203	4300	6503	SO:0001583	missense	3156	exon17			AAACATTGTCACC		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2268T>G	5.37:g.74655105T>G	ENSP00000287936:p.Ile756Met	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	64	30	0.46875	NM_000859	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.10|13.10	2.136618|2.136618	0.37728|0.37728	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286|ENST00000509085	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.11|5.11	-5.61|-5.61	0.02489|0.02489	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);|.	0.054543|.	0.64402|.	D|.	0.000001|.	T|T	0.64681|0.64681	0.2620|0.2620	L|L	0.61218|0.61218	1.895|1.895	0.51482|0.51482	D|D	0.999929|0.999929	P;B;P;P|.	0.48089|.	0.642;0.261;0.905;0.793|.	B;B;P;P|.	0.48552|.	0.405;0.183;0.581;0.486|.	T|T	0.67162|0.67162	-0.5740|-0.5740	10|5	0.38643|.	T|.	0.18|.	-9.0541|-9.0541	14.1509|14.1509	0.65384|0.65384	0.0:0.5119:0.0:0.4881|0.0:0.5119:0.0:0.4881	.|.	756;133;703;756|.	B2R649;B4DSB1;P04035-2;P04035|.	.;.;.;HMDH_HUMAN|.	M|W	756;687;756;703;133|86	ENSP00000426745:I756M;ENSP00000287936:I756M;ENSP00000340816:I703M|.	ENSP00000287936:I756M|.	I|L	+|+	3|2	3|0	HMGCR|HMGCR	74690861|74690861	0.000000|0.000000	0.05858|0.05858	0.675000|0.675000	0.29917|0.29917	0.895000|0.895000	0.52256|0.52256	-3.976000|-3.976000	0.00321|0.00321	-0.947000|-0.947000	0.03673|0.03673	-0.250000|-0.250000	0.11733|0.11733	ATT|TTG	.	.	none		0.458	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			G	74655105	T	G	74655105	3	3	11	1	0	0	0	0	1	0	0	0	7231	1800	63	5	2330	5	HMGCR	5	74655105	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	18465677	74655105	106260155	169	2454										
VCAN	1462	hgsc.bcm.edu	37	chr5	82834917	82834917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcttcccagtgctgtgcaaaAgttttctggtacagcttcct	9	11	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:82834917A>C	ENST00000265077.3	+	8	6660	c.6095A>C	c.(6094-6096)aAg>aCg	p.K2032T	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.K1045T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2032	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCTGTGCAAAAGTTTTCTGGT	0.478																																					p.K2032T		Atlas-SNP	.											.	VCAN	498	.	0			c.A6095C						PASS	.						65	70	68					5																	82834917		2203	4300	6503	SO:0001583	missense	1462	exon8			TGCAAAAGTTTTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6095A>C	5.37:g.82834917A>C	ENSP00000265077:p.Lys2032Thr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	103	44	0.427184	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460599	0.26248	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86865	-2.16;-2.18;3.01	5.39	-2.02	0.07388	.	1.361960	0.04546	N	0.389071	T	0.76723	0.4027	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.30361	0.277;0.1	B;B	0.24394	0.053;0.024	T	0.58595	-0.7609	10	0.15499	T	0.54	.	4.4646	0.11682	0.5024:0.0:0.1504:0.3472	.	1045;2032	P13611-2;P13611	.;CSPG2_HUMAN	T	2032;1045;1045	ENSP00000265077:K2032T;ENSP00000340062:K1045T;ENSP00000426251:K1045T	ENSP00000265077:K2032T	K	+	2	0	VCAN	82870673	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.107000	0.15375	-0.896000	0.03915	-2.845000	0.00104	AAG	.	.	none		0.478	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82834917	A	C	82834917	3	2	11	1	0	0	0	0	1	0	0	0	17135	72	3	5	6121	5	VCAN	5	82834917	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	8179812	82834917	98080343	170	2455										
PPIP5K2	23262	hgsc.bcm.edu	37	chr5	102465357	102465357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaataaatcctggaaattatCgacatttcttccaccatgca	4	10	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:102465357C>T	ENST00000358359.3	+	2	573	c.64C>T	c.(64-66)Cga>Tga	p.R22*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R22*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Nonsense_Mutation_p.R22*	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	22					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGAAATTATCGACATTTCTT	0.363																																					p.R22X		Atlas-SNP	.											.	PPIP5K2	98	.	0			c.C64T						PASS	.						110	105	106					5																	102465357		2203	4300	6503	SO:0001587	stop_gained	23262	exon1			AATTATCGACATT	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.64C>T	5.37:g.102465357C>T	ENSP00000351126:p.Arg22*	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	40	4	0.1	NM_015216	A1NI53|A6NGS8|Q8TB50	Nonsense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011757	0.93346	.	.	ENSG00000145725	ENST00000515845;ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	.	.	.	5.75	2.74	0.32292	.	0.167313	0.39615	N	0.001314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0712	0.06231	0.2478:0.4349:0.2312:0.0861	.	.	.	.	X	22	.	ENSP00000313070:R22X	R	+	1	2	PPIP5K2	102493256	0.615000	0.27026	0.907000	0.35723	0.977000	0.68977	0.906000	0.28517	0.880000	0.35969	0.650000	0.86243	CGA	.	.	none		0.363	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		T	102465357	C	T	102465357	4	4	11	1	0	0	0	0	0	1	0	0	12333	876	31	1	66	1	PPIP5K2	5	102465357	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	19630440	102465357	78449903	171	2456										
APC	324	hgsc.bcm.edu	37	chr5	112173494	112173494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atctcatggcaaataggcctGcgaagtacaaggatgccaat	10	9	1	0	rs559313229	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:112173494G>A	ENST00000457016.1	+	16	2583	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	APC_ENST00000508376.2_Missense_Mutation_p.A735T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A735T			P25054	APC_HUMAN	adenomatous polyposis coli	735	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATAGGCCTGCGAAGTACAA	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A735T	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,NS,carcinoma,-2,1	APC	4158	1	1	Unknown(1)	skin(1)	c.G2203A						PASS	.						77	67	71					5																	112173494		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	AGGCCTGCGAAGT	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2203G>A	5.37:g.112173494G>A	ENSP00000413133:p.Ala735Thr	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	23	0.302632	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833345	0.50951	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.64618	-0.11;0.97;-0.11;-0.11;0.97	6.17	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);	0.046835	0.85682	D	0.000000	T	0.64538	0.2607	M	0.71581	2.175	0.80722	D	1	B;B	0.19935	0.04;0.04	B;B	0.21546	0.023;0.035	T	0.61535	-0.7043	10	0.39692	T	0.17	-18.6539	17.5212	0.87787	0.0:0.1239:0.8761:0.0	.	737;735	Q4LE70;P25054	.;APC_HUMAN	T	735;717;735;735;735	ENSP00000413133:A735T;ENSP00000423224:A717T;ENSP00000257430:A735T;ENSP00000427089:A735T;ENSP00000423828:A735T	ENSP00000257430:A735T	A	+	1	0	APC	112201393	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.663000	0.83820	1.593000	0.50029	0.655000	0.94253	GCG	.	.	none		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112173494	G	A	112173494	3	1	11	1	0	0	0	0	1	0	0	0	763	1319	46	2	2261	2	APC	5	112173494	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9708137	112173494	68741766	172	2457										
PCDHA7	56141	hgsc.bcm.edu	37	chr5	140215022	140215022	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acaatgctccacagttgactCtcacttccctgtctctccct	4	17	2	1	rs150063888		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:140215022C>A	ENST00000525929.1	+	1	1054	c.1054C>A	c.(1054-1056)Ctc>Atc	p.L352I	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L352I|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L352F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTGACTCTCACTTCCCT	0.507																																					p.L352I	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											PCDHA7,shoulder,malignant_melanoma,0,1	PCDHA7	367	1	1	Substitution - Missense(1)	skin(1)	c.C1054A						scavenged	.						181	157	165					5																	140215022		2203	4299	6502	SO:0001583	missense	56141	exon1			TTGACTCTCACTT	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1054C>A	5.37:g.140215022C>A	ENSP00000436426:p.Leu352Ile	Somatic	328	6	0.0182927		WXS	Illumina HiSeq	Phase_I	457	7	0.0153173	NM_031852	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912035	0.02415	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.61274	0.12;0.26	4.04	-1.41	0.08941	Cadherin (2);Cadherin-like (1);	0.343115	0.15286	N	0.270413	T	0.21347	0.0514	N	0.03268	-0.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.001	T	0.19877	-1.0292	10	0.05833	T	0.94	.	2.2003	0.03921	0.3512:0.1209:0.4122:0.1158	.	352;352	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	I	352	ENSP00000436426:L352I;ENSP00000367365:L352I	ENSP00000367365:L352I	L	+	1	0	PCDHA7	140195206	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-3.197000	0.00562	-0.656000	0.05380	0.305000	0.20034	CTC	.	.	alt		0.507	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215022	C	A	140215022	3	1	11	1	0	0	0	0	1	0	0	0	11529	913	32	4	1056	4	PCDHA7	5	140215022	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	28041528	140215022	40700238	173	2458										
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140264046	140264046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcaccgcccaccgagggcgcGtgcgcgccgggcaagcccac	15	19	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:140264046G>A	ENST00000289272.2	+	1	2193	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.A731A|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCGCGCCGG	0.672																																					p.A731A	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.G2193A						PASS	.						61	66	64					5																	140264046		2203	4297	6500	SO:0001819	synonymous_variant	56136	exon1			GGGCGCGTGCGCG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2193G>A	5.37:g.140264046G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	103	79	0.76699	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																			.	.	none		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140264046	G	A	140264046	2	1	11	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140264046	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	49024	140264046	40651214	174	2459										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140574381	140574381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accctgtcccagagctaccaGtatgaggtgtgtctgacggg	13	11	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:140574381G>T	ENST00000239446.4	+	1	2440	c.2256G>T	c.(2254-2256)caG>caT	p.Q752H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	752					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)			AGAGCTACCAGTATGAGGTGT	0.622																																					p.Q752H		Atlas-SNP	.											.	PCDHB10	177	.	0			c.G2256T						PASS	.						78	86	83					5																	140574381		2203	4300	6503	SO:0001583	missense	56126	exon1			CTACCAGTATGAG	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.2256G>T	5.37:g.140574381G>T	ENSP00000239446:p.Gln752His	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	128	64	0.5	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	7.623	0.677262	0.14841	.	.	ENSG00000120324	ENST00000239446	T	0.49432	0.78	3.28	1.41	0.22369	.	.	.	.	.	T	0.59676	0.2211	M	0.75615	2.305	0.31114	N	0.709598	D	0.76494	0.999	D	0.67900	0.954	T	0.58702	-0.7590	9	0.56958	D	0.05	.	3.3998	0.07319	0.3694:0.203:0.4276:0.0	.	752	Q9UN67	PCDBA_HUMAN	H	752	ENSP00000239446:Q752H	ENSP00000239446:Q752H	Q	+	3	2	PCDHB10	140554565	0.000000	0.05858	0.996000	0.52242	0.394000	0.30568	-1.938000	0.01546	0.213000	0.20722	0.298000	0.19748	CAG	.	.	none		0.622	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140574381	G	T	140574381	3	4	11	1	0	0	0	0	1	0	0	0	11535	1020	36	4	2258	4	PCDHB10	5	140574381	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	310335	140574381	40340879	175	2460										
PCDHGB2	56103	hgsc.bcm.edu	37	chr5	140741034	140741034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtcaccctgcacatctccgaCgtcaacgataatgccccagt	7	16	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:140741034C>T	ENST00000522605.1	+	1	1332	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTCCGACGTCAACGATA	0.552																																					p.D444D		Atlas-SNP	.											.	PCDHGB2	196	.	0			c.C1332T						PASS	.						105	109	108					5																	140741034		2069	4208	6277	SO:0001819	synonymous_variant	56103	exon1			CTCCGACGTCAAC	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1332C>T	5.37:g.140741034C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	145	92	0.634483	NM_018923	Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	CCDS54924.1																																																																																			.	.	none		0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		T	140741034	C	T	140741034	2	4	11	1	0	0	0	0	0	0	0	1	11563	535	19	1		1	PCDHGB2	5	140741034	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	166653	140741034	40174226	176	2461										
PCDHGA9	56107	hgsc.bcm.edu	37	chr5	140784896	140784896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agaaaaatgagcctttgtgcGtctctgttgattccaagttt	9	7	1	3	rs371490086	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:140784896G>A	ENST00000573521.1	+	1	2377	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	793					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTGTGCGTCTCTGTTGA	0.428													.|||	2	0.000399361	0.0015	0.0	5008	,	,		20921	0.0		0.0	False		,,,				2504	0.0				p.V793I		Atlas-SNP	.											PCDHGA9_ENST00000573521,NS,carcinoma,0,2	PCDHGA9	110	2	0			c.G2377A						scavenged	.	G	,,,,,,,,ILE/VAL,,,,,,ILE/VAL	3,4379		0,3,2188	71	78	76		,,,,,,,,2377,,,,,,2377	-3.4	0	5		76	0,8596		0,0,4298	no	intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,29,,,,,,29	0,3,6486	AA,AG,GG		0.0,0.0685,0.0231	,,,,,,,,,,,,,,	,,,,,,,,793/933,,,,,,793/829	140784896	3,12975	2191	4298	6489	SO:0001583	missense	56107	exon1			TTGTGCGTCTCTG	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2377G>A	5.37:g.140784896G>A	ENSP00000460274:p.Val793Ile	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	207	3	0.0144928	NM_032089	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.	.	weak		0.428	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		A	140784896	G	A	140784896	3	1	11	1	0	0	0	0	1	0	0	0	11561	1145	40	1	2379	1	PCDHGA9	5	140784896	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	43862	140784896	40130364	177	2462										
LARP1	23367	hgsc.bcm.edu	37	chr5	154179585	154179585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaagaagaggcctcggccaTccccagcacggcccaaggtg	13	14	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:154179585T>C	ENST00000336314.4	+	10	1492	c.1468T>C	c.(1468-1470)Tcc>Ccc	p.S490P		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	567					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTCGGCCATCCCCAGCACG	0.577																																					p.S490P		Atlas-SNP	.											.	LARP1	187	.	0			c.T1468C						PASS	.						50	49	49					5																	154179585		2203	4300	6503	SO:0001583	missense	23367	exon10			CGGCCATCCCCAG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1468T>C	5.37:g.154179585T>C	ENSP00000336721:p.Ser490Pro	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	56	46	0.821429	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300724	0.81136	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.52983	1.83;1.39;1.42;0.73;0.64	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.76574	2.34	0.80722	D	1	B;B	0.27068	0.167;0.084	B;B	0.25614	0.048;0.062	T	0.50767	-0.8789	10	0.48119	T	0.1	-22.2417	16.4484	0.83959	0.0:0.0:0.0:1.0	.	567;490	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	P	490;567;362;275;165	ENSP00000336721:S490P;ENSP00000428589:S567P;ENSP00000429904:S362P;ENSP00000430438:S275P;ENSP00000431072:S165P	ENSP00000336721:S490P	S	+	1	0	LARP1	154159778	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	5.893000	0.69798	2.285000	0.76669	0.533000	0.62120	TCC	.	.	none		0.577	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		C	154179585	T	C	154179585	3	2	11	1	0	0	0	0	1	0	0	0	8628	1435	50	2	1506	2	LARP1	5	154179585	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	13394689	154179585	26735675	178	2463										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc	18	8	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																					p.D948N		Atlas-SNP	.											ADAMTS2,caecum,carcinoma,0,2	ADAMTS2	190	2	0			c.G2842A						scavenged	.						112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509	exon19			TGTTGTCGTGTAG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn	Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	128	3	0.0234375	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC	.	.	none		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178552090	C	T	178552090	3	4	11	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	24372505	178552090	2363170	179	2464										
SLC22A23	63027	hgsc.bcm.edu	37	chr6	3273638	3273638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tggccagcaccagccccagcCcgccacacctgcagggggag	13	18	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:3273638C>T	ENST00000406686.3	-	10	1711	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	SLC22A23_ENST00000436008.2_Missense_Mutation_p.G579E|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G290E|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G290E	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	571					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CAGCCCCAGCCCGCCACACCT	0.642																																					p.G571E		Atlas-SNP	.											SLC22A23_ENST00000406686,colon,carcinoma,-1,2	SLC22A23	89	2	0			c.G1712A						PASS	.						44	38	40					6																	3273638		2177	4257	6434	SO:0001583	missense	63027	exon10			CCCAGCCCGCCAC	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1712G>A	6.37:g.3273638C>T	ENSP00000385028:p.Gly571Glu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	92	27	0.293478	NM_015482	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708450	0.89018	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86066	0.1535	10	0.87932	D	0	-29.3275	18.5442	0.91040	0.0:1.0:0.0:0.0	.	571	A1A5C7	S22AN_HUMAN	E	579;571;290;290	ENSP00000410245:G579E;ENSP00000385028:G571E;ENSP00000369657:G290E;ENSP00000419463:G290E	ENSP00000369657:G290E	G	-	2	0	SLC22A23	3218637	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.521000	0.67086	2.689000	0.91719	0.561000	0.74099	GGG	.	.	none		0.642	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		T	3273638	C	T	3273638	3	4	11	1	0	0	0	0	1	0	0	0	14452	623	22	2	352	2	SLC22A23	6	3273638	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10		3273638	167841429	180	2465										
HIST1H2AC	8334	hgsc.bcm.edu	37	chr6	26124573	26124585	+	Frame_Shift_Del	DEL	GCAACTACGCAGA	GCAACTACGCAGA	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcaccgcctgctccgtaaagGcaactacgcagagcgggttg							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	GCAACTACGCAGA	GCAACTACGCAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:26124573_26124585delGCAACTACGCAGA	ENST00000602637.1	+	1	143_155	c.113_125delGCAACTACGCAGA	c.(112-126)ggcaactacgcagagfs	p.GNYAE38fs	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Frame_Shift_Del_p.GNYAE38fs			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	38						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E42Q(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CTCCGTAAAGGCAACTACGCAGAGCGGGTTGGG	0.657																																					p.38_42del		Atlas-Indel	.											.	HIST1H2AC	29	.	1	Substitution - Missense(1)	NS(1)	c.112_124del						PASS	.																																			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.113_125delGCAACTACGCAGA	6.37:g.26124573_26124585delGCAACTACGCAGA	ENSP00000473534:p.Gly38fs	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	196	35	0.178571	NM_003512	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Frame_Shift_Del	DEL	ENST00000602637.1	37	CCDS4585.1																																																																																			.	.	none		0.657	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		-	26124585	GCAACTACGCAGA	-	26124573	7	5	11	1	0	1	0	1	0	0	0	0	7130	1203	42	0	115	0	HIST1H2AC	6	26124573	Frame_Shift_Del	DEL	GCAACTACGCAGA	TCGA-FF-8042-01A-11D-2210-10	22850935	26124573	144990494	181	2466										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156929	26156929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gggcaccggcgcgtcgggttCcttcaaactcaacaagaagg	13	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:26156929C>G	ENST00000304218.3	+	1	371	c.311C>G	c.(310-312)tCc>tGc	p.S104C	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	104	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGTCGGGTTCCTTCAAACTC	0.602																																					p.S104C		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.C311G						PASS	.						39	45	43					6																	26156929		2203	4300	6503	SO:0001583	missense	3008	exon1			CGGGTTCCTTCAA	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.311C>G	6.37:g.26156929C>G	ENSP00000307705:p.Ser104Cys	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	222	50	0.225225	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	19.18	3.777704	0.70107	.	.	ENSG00000168298	ENST00000304218	T	0.10960	2.82	5.35	5.35	0.76521	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	H	0.95850	3.73	0.80722	D	1	D	0.56287	0.975	D	0.64410	0.925	T	0.58725	-0.7586	10	0.87932	D	0	-5.7108	18.4042	0.90528	0.0:1.0:0.0:0.0	.	104	P10412	H14_HUMAN	C	104	ENSP00000307705:S104C	ENSP00000307705:S104C	S	+	2	0	HIST1H1E	26264908	1.000000	0.71417	0.711000	0.30485	0.551000	0.35334	7.751000	0.85126	2.658000	0.90341	0.561000	0.74099	TCC	.	.	none		0.602	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		G	26156929	C	G	26156929	3	3	11	1	0	0	0	0	1	0	0	0	7126	855	30	4	313	4	HIST1H1E	6	26156929	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	32356	26156929	144958138	182	2467										
HIST1H2BJ	8970	hgsc.bcm.edu	37	chr6	27100241	27100241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagcagcaggcgcacggccgTctggatctccctggaggtga	15	13	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:27100241T>C	ENST00000607124.1	-	1	288	c.289A>G	c.(289-291)Acg>Gcg	p.T97A	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.T97A|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.T97A			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	97					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CGCACGGCCGTCTGGATCTCC	0.592																																					p.T97A		Atlas-SNP	.											.	HIST1H2BJ	21	.	0			c.A289G						PASS	.						82	85	84					6																	27100241		2203	4300	6503	SO:0001583	missense	8970	exon1			CGGCCGTCTGGAT	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.289A>G	6.37:g.27100241T>C	ENSP00000476136:p.Thr97Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	99	4	0.040404	NM_021058	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897676	0.72639	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.41758	0.99;0.99	4.16	4.16	0.48862	Histone-fold (2);Histone core (1);	0.000000	0.44097	U	0.000498	T	0.53786	0.1818	M	0.81802	2.56	0.58432	D	0.999996	D	0.57899	0.981	D	0.64042	0.921	T	0.61973	-0.6952	10	0.87932	D	0	.	11.8112	0.52183	0.0:0.0:0.0:1.0	.	97	P06899	H2B1J_HUMAN	A	97	ENSP00000445633:T97A;ENSP00000342886:T97A	ENSP00000342886:T97A	T	-	1	0	HIST1H2BJ	27208220	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	3.651000	0.54431	1.841000	0.53522	0.477000	0.44152	ACG	.	.	none		0.592	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		C	27100241	T	C	27100241	3	2	11	1	0	0	0	0	1	0	0	0	7149	1667	58	2	95	2	HIST1H2BJ	6	27100241	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	943312	27100241	144014826	183	2468										
NKAPL	222698	hgsc.bcm.edu	37	chr6	28227333	28227333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggagtgagttggacgtgggcGctctttacccctttagtcgc	14	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:28227333G>A	ENST00000343684.3	+	1	236	c.184G>A	c.(184-186)Gct>Act	p.A62T	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	62										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGACGTGGGCGCTCTTTACCC	0.622																																					p.A62T		Atlas-SNP	.											.	NKAPL	72	.	0			c.G184A						PASS	.						54	59	57					6																	28227333		2203	4300	6503	SO:0001583	missense	222698	exon1			GTGGGCGCTCTTT	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.184G>A	6.37:g.28227333G>A	ENSP00000345716:p.Ala62Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	80	44	0.55	NM_001007531	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944889	0.34283	.	.	ENSG00000189134	ENST00000343684	T	0.13778	2.56	4.21	-0.871	0.10642	.	1.031910	0.07675	N	0.936094	T	0.02342	0.0072	L	0.42245	1.32	0.09310	N	1	B	0.21147	0.052	B	0.08055	0.003	T	0.45862	-0.9232	10	0.08179	T	0.78	-0.4142	5.0106	0.14310	0.3089:0.3156:0.3754:0.0	.	62	Q5M9Q1	NKAPL_HUMAN	T	62	ENSP00000345716:A62T	ENSP00000345716:A62T	A	+	1	0	NKAPL	28335312	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.408000	0.21065	-0.318000	0.08665	-0.136000	0.14681	GCT	.	.	none		0.622	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			A	28227333	G	A	28227333	3	1	11	1	0	0	0	0	1	0	0	0	10440	1087	38	1	186	1	NKAPL	6	28227333	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1127092	28227333	142887734	184	2469										
MICB	4277	hgsc.bcm.edu	37	chr6	31473513	31473513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgcgctatgacaggcagaaaCgcagggcaaagccccaggga	14	11	0	2	rs2240858	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:31473513C>T	ENST00000252229.6	+	2	269	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	MICB_ENST00000399150.3_Missense_Mutation_p.R64C|MICB_ENST00000538442.1_Missense_Mutation_p.R32C	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CAGGCAGAAACGCAGGGCAAA	0.572													c|||	4	0.000798722	0.0	0.0014	5008	,	,		19845	0.0		0.0	False		,,,				2504	0.0031				p.R64C		Atlas-SNP	.											MICB,rectum,carcinoma,0,1	MICB	26	1	0			c.C190T						scavenged	.						72	76	75					6																	31473513		1286	2551	3837	SO:0001583	missense	4277	exon2			CAGAAACGCAGGG		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.190C>T	6.37:g.31473513C>T	ENSP00000252229:p.Arg64Cys	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_005931		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	3.472	-0.107702	0.06924	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01887	4.58;4.58;4.58	2.35	-4.71	0.03279	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.688810	0.03892	U	0.278939	T	0.00440	0.0014	N	0.12422	0.21	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.002;0.004;0.005	T	0.47548	-0.9109	10	0.42905	T	0.14	.	2.3151	0.04197	0.1242:0.3189:0.378:0.1788	rs2240858	32;64;64	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	C	32;64;64	ENSP00000442345:R32C;ENSP00000382103:R64C;ENSP00000252229:R64C	ENSP00000252229:R64C	R	+	1	0	MICB	31581492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.334000	0.02665	-1.193000	0.02688	-3.051000	0.00069	CGC	C|0.500;T|0.500	0.500	weak		0.572	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31473513	C	T	31473513	3	4	11	1	0	0	0	0	1	0	0	0	9575	536	19	1	196	1	MICB	6	31473513	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3246180	31473513	139641554	185	2470										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38942190	38942190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgagccaccccaaggtgtacGcgcaggtttgaaaagaacat	11	10	0	3	rs201939427		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:38942190G>A	ENST00000359357.3	+	83	12322	c.12068G>A	c.(12067-12069)cGc>cAc	p.R4023H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3987H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4023	AAA 6. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGGTGTACGCGCAGGTTTG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17765	0.001		0.0	False		,,,				2504	0.0				p.R4240H		Atlas-SNP	.											DNAH8_ENST00000359357,caecum,carcinoma,+1,4	DNAH8	1239	4	0			c.G12719A						scavenged	.						78	71	73					6																	38942190		2203	4300	6503	SO:0001583	missense	1769	exon85			GTGTACGCGCAGG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12068G>A	6.37:g.38942190G>A	ENSP00000352312:p.Arg4023His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	116	2	0.0172414	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.4	4.291594	0.80914	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08807	3.05;3.05;3.05	5.84	5.84	0.93424	Dynein heavy chain (1);	0.065044	0.56097	D	0.000021	T	0.22781	0.0550	M	0.84433	2.695	0.48040	D	0.999574	D;D	0.89917	1.0;1.0	D;D	0.74023	0.969;0.982	T	0.00653	-1.1625	10	0.45353	T	0.12	.	13.3475	0.60582	0.0717:0.0:0.9283:0.0	.	3987;4023	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	4228;4023;3987	ENSP00000333363:R4228H;ENSP00000352312:R4023H;ENSP00000402294:R3987H	ENSP00000333363:R4228H	R	+	2	0	DNAH8	39050168	0.940000	0.31905	0.745000	0.31077	0.953000	0.61014	3.628000	0.54259	2.764000	0.94973	0.655000	0.94253	CGC	G|1.000;A|0.000	0.000	strong		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38942190	G	A	38942190	3	1	11	1	0	0	0	0	1	0	0	0	4607	1087	38	1	12390	1	DNAH8	6	38942190	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	7468677	38942190	132172877	186	2471										
TREML2	79865	hgsc.bcm.edu	37	chr6	41166098	41166098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtttttgtagcccttatagGagcactgcacagacagagtc	11	9	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:41166098G>A	ENST00000483722.1	-	2	310	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	42	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCTTATAGGAGCACTGCAC	0.512																																					p.S42F		Atlas-SNP	.											TREML2,colon,carcinoma,0,1	TREML2	41	1	0			c.C125T						scavenged	.						155	164	161					6																	41166098		2203	4300	6503	SO:0001583	missense	79865	exon2			TTATAGGAGCACT	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.125C>T	6.37:g.41166098G>A	ENSP00000418767:p.Ser42Phe	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.82	2.351464	0.41700	.	.	ENSG00000112195	ENST00000483722	T	0.64803	-0.12	4.75	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.487586	0.17816	N	0.161037	T	0.59224	0.2178	L	0.43757	1.38	0.32993	D	0.525191	D	0.76494	0.999	D	0.72982	0.979	T	0.60682	-0.7215	10	0.48119	T	0.1	-10.0883	10.3616	0.43998	0.0:0.0:0.8036:0.1964	.	42	Q5T2D2	TRML2_HUMAN	F	42	ENSP00000418767:S42F	ENSP00000418767:S42F	S	-	2	0	TREML2	41274076	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	0.753000	0.26376	1.079000	0.41038	0.563000	0.77884	TCC	.	.	none		0.512	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166098	G	A	41166098	3	1	11	1	0	0	0	0	1	0	0	0	16470	1174	41	2	856	2	TREML2	6	41166098	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2223908	41166098	129948969	187	2472										
RUNX2	860	hgsc.bcm.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																					p.Q71E		Atlas-SNP	.											RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2	128	2	0			c.C211G						scavenged	.						6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860	exon3			CAGCAGCAGGAGG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	25	2	0.08	NM_001024630	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG	.	.	none		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45390482	C	G	45390482	3	3	11	1	0	0	0	0	1	0	0	0	13748	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4224384	45390482	125724585	188	2473										
ENPP4	22875	hgsc.bcm.edu	37	chr6	46111076	46111076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atttctagctgcccacggacCtgcatttcacaaaggctaca	7	13	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:46111076C>T	ENST00000321037.4	+	4	1291	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	354					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCCCACGGACCTGCATTTCAC	0.393																																					p.P354L		Atlas-SNP	.											.	ENPP4	44	.	0			c.C1061T						PASS	.						146	136	139					6																	46111076		2203	4300	6503	SO:0001583	missense	22875	exon4			ACGGACCTGCATT	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1061C>T	6.37:g.46111076C>T	ENSP00000318066:p.Pro354Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_014936	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171481	0.94807	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.81579	-1.51	5.9	5.9	0.94986	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94748	0.7925	10	0.87932	D	0	-18.2243	20.2789	0.98501	0.0:1.0:0.0:0.0	.	354	Q9Y6X5	ENPP4_HUMAN	L	354	ENSP00000318066:P354L	ENSP00000318066:P354L	P	+	2	0	ENPP4	46219035	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	CCT	.	.	none		0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			T	46111076	C	T	46111076	3	4	11	1	0	0	0	0	1	0	0	0	5132	681	24	2	1071	2	ENPP4	6	46111076	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	720594	46111076	125003991	189	2474										
TDRD6	221400	hgsc.bcm.edu	37	chr6	46658993	46658993	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tggaaccttgtgccttgccaAgtatactgatggaaactggt	11	8	0	1	rs138212613		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:46658993A>C	ENST00000316081.6	+	1	3128	c.3128A>C	c.(3127-3129)aAg>aCg	p.K1043T	TDRD6_ENST00000544460.1_Missense_Mutation_p.K1043T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCTTGCCAAGTATACTGAT	0.338																																					p.K1043T		Atlas-SNP	.											TDRD6,NS,carcinoma,0,1	TDRD6	205	1	0			c.A3128C						scavenged	.						71	76	74					6																	46658993		2203	4300	6503	SO:0001583	missense	221400	exon1			TTGCCAAGTATAC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3128A>C	6.37:g.46658993A>C	ENSP00000346065:p.Lys1043Thr	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	127	38	0.299213	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428736	0.25726	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09723	2.95;2.95	5.45	-1.74	0.08056	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.515089	0.21750	N	0.069696	T	0.17619	0.0423	M	0.86420	2.815	0.25095	N	0.99083	D;D	0.67145	0.995;0.996	D;D	0.70935	0.951;0.971	T	0.04579	-1.0941	10	0.39692	T	0.17	-3.58	11.919	0.52781	0.5826:0.0:0.4174:0.0	.	1043;1043	F5H5M3;O60522	.;TDRD6_HUMAN	T	1043	ENSP00000443299:K1043T;ENSP00000346065:K1043T	ENSP00000346065:K1043T	K	+	2	0	TDRD6	46766952	0.041000	0.20044	0.545000	0.28153	0.307000	0.27823	-0.057000	0.11768	-0.545000	0.06224	-0.977000	0.02584	AAG	A|1.000;G|0.000	.	alt		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46658993	A	C	46658993	3	2	11	1	0	0	0	0	1	0	0	0	15731	72	3	5	3130	5	TDRD6	6	46658993	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	547917	46658993	124456074	190	2475										
MUT	4594	hgsc.bcm.edu	37	chr6	49423828	49423828	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcaattgtcaggccagcctgGagtccagttctagagtactc	10	11	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:49423828G>A	ENST00000274813.3	-	4	1003	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	292					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCAGCCTGGAGTCCAGTTC	0.403																																					p.L292L		Atlas-SNP	.											.	MUT	70	.	0			c.C876T						PASS	.						80	74	76					6																	49423828		2203	4300	6503	SO:0001819	synonymous_variant	4594	exon4			AGCCTGGAGTCCA		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.876C>T	6.37:g.49423828G>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	208	10	0.0480769	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	CCDS4924.1																																																																																			.	.	none		0.403	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			A	49423828	G	A	49423828	2	1	11	1	0	0	0	0	0	0	0	1	9991	1161	41	2		2	MUT	6	49423828	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2764835	49423828	121691239	191	2476										
BMP5	653	hgsc.bcm.edu	37	chr6	55739470	55739470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttccaggtgaaaatggtctgGgtctgtgaggcaaacccaag	13	8	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:55739470G>T	ENST00000370830.3	-	1	892	c.194C>A	c.(193-195)cCc>cAc	p.P65H	BMP5_ENST00000446683.2_Missense_Mutation_p.P65H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	65					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATGGTCTGGGTCTGTGAGG	0.433																																					p.P65H		Atlas-SNP	.											.	BMP5	94	.	0			c.C194A						PASS	.						197	177	184					6																	55739470		2203	4300	6503	SO:0001583	missense	653	exon1			GGTCTGGGTCTGT		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.194C>A	6.37:g.55739470G>T	ENSP00000359866:p.Pro65His	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	146	31	0.212329	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874739	0.72180	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.91068	-2.78;-2.78	5.71	5.71	0.89125	Transforming growth factor-beta, N-terminal (1);	0.157746	0.64402	D	0.000019	D	0.95937	0.8677	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95966	0.8966	10	0.87932	D	0	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	65;65	B4E0Y4;P22003	.;BMP5_HUMAN	H	65	ENSP00000359866:P65H;ENSP00000391818:P65H	ENSP00000359866:P65H	P	-	2	0	BMP5	55847429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.685000	0.91497	0.650000	0.86243	CCC	.	.	none		0.433	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55739470	G	T	55739470	3	4	11	1	0	0	0	0	1	0	0	0	1463	1232	43	4	1198	4	BMP5	6	55739470	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	6315642	55739470	115375597	192	2477										
FILIP1	27145	hgsc.bcm.edu	37	chr6	76018589	76018589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aatgcgggtgggtgtaggccGctgggatgacccgtcttgtc	17	9	1	1	rs369386052		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:76018589G>A	ENST00000237172.7	-	6	3790	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1154W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R1055W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1154										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTGTAGGCCGCTGGGATGAC	0.493																																					p.R1154W		Atlas-SNP	.											FILIP1,right_upper_lobe,carcinoma,0,1	FILIP1	173	1	0			c.C3460T						PASS	.	G	TRP/ARG	0,4406		0,0,2203	93	90	91		3460	5.9	1	6		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	FILIP1	NM_015687.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1154/1214	76018589	1,13005	2203	4300	6503	SO:0001583	missense	27145	exon6			TAGGCCGCTGGGA	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3460C>T	6.37:g.76018589G>A	ENSP00000237172:p.Arg1154Trp	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	174	57	0.327586	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958904	0.74016	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.27720	1.66;1.65;1.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.61703	1.905	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	T	0.40869	-0.9540	10	0.87932	D	0	-16.9412	14.9358	0.70954	0.0:0.0:0.8235:0.1765	.	1154;1154;1154	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	1154;1154;1055	ENSP00000376728:R1154W;ENSP00000237172:R1154W;ENSP00000359037:R1055W	ENSP00000237172:R1154W	R	-	1	2	FILIP1	76075309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.609000	0.54117	2.794000	0.96219	0.655000	0.94253	CGG	.	.	weak		0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		A	76018589	G	A	76018589	3	1	11	1	0	0	0	0	1	0	0	0	5894	1086	38	1	185	1	FILIP1	6	76018589	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	20279119	76018589	95096478	193	2478										
ZBTB24	9841	hgsc.bcm.edu	37	chr6	109787112	109787112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgtggtgagtgggtggtggcGgaccaggctcctgtgtcagc	19	9	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:109787112G>T	ENST00000230122.3	-	7	2203	c.2036C>A	c.(2035-2037)cCg>cAg	p.P679Q	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	679					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GGGTGGTGGCGGACCAGGCTC	0.537																																					p.P679Q		Atlas-SNP	.											ZBTB24,colon,adenoma,+1,1	ZBTB24	64	1	0			c.C2036A						scavenged	.						100	97	98					6																	109787112		2203	4300	6503	SO:0001583	missense	9841	exon7			GGTGGCGGACCAG	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2036C>A	6.37:g.109787112G>T	ENSP00000230122:p.Pro679Gln	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	6.784	0.513573	0.12944	.	.	ENSG00000112365	ENST00000230122	T	0.09817	2.94	5.42	2.58	0.30949	.	1.240340	0.05807	N	0.613348	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44997	-0.9291	10	0.72032	D	0.01	-0.0725	4.1508	0.10237	0.0781:0.1199:0.4652:0.3368	.	679	O43167	ZBT24_HUMAN	Q	679	ENSP00000230122:P679Q	ENSP00000230122:P679Q	P	-	2	0	ZBTB24	109893805	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.187000	0.09656	0.858000	0.35431	-0.158000	0.13435	CCG	.	.	none		0.537	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		T	109787112	G	T	109787112	3	4	11	1	0	0	0	0	1	0	0	0	17528	1116	39	4	61	4	ZBTB24	6	109787112	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	33768523	109787112	61327955	194	2479										
TRDN	10345	hgsc.bcm.edu	37	chr6	123759264	123759264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttttctttttgatatcttctTtttctgctggtaaaataaga	5	5	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:123759264T>C	ENST00000398178.3	-	12	1016	c.995A>G	c.(994-996)aAa>aGa	p.K332R	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Missense_Mutation_p.K332R|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	332					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATATCTTCTTTTTCTGCTGG	0.343																																					p.K333R		Atlas-SNP	.											.	TRDN	88	.	0			c.A998G						PASS	.						108	100	102					6																	123759264		1815	4058	5873	SO:0001583	missense	10345	exon12			TCTTCTTTTTCTG	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.995A>G	6.37:g.123759264T>C	ENSP00000381240:p.Lys332Arg	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	79	26	0.329114	NM_001251987	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592330	0.66219	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014	T;T	0.64260	-0.09;-0.09	5.64	5.64	0.86602	.	0.152578	0.41938	D	0.000781	T	0.56834	0.2012	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.993;0.993;0.999	D;D;D	0.78314	0.978;0.978;0.991	T	0.61043	-0.7142	10	0.38643	T	0.18	-6.8293	12.5428	0.56182	0.0:0.0:0.0:1.0	.	332;333;332	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	R	332	ENSP00000381240:K332R;ENSP00000333984:K332R	ENSP00000333984:K332R	K	-	2	0	TRDN	123800963	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.046000	0.41260	2.275000	0.75901	0.528000	0.53228	AAA	.	.	none		0.343	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	123759264	T	C	123759264	3	2	11	1	0	0	0	0	1	0	0	0	16465	1841	64	2	1314	2	TRDN	6	123759264	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	13972152	123759264	47355803	195	2480										
TAAR2	9287	hgsc.bcm.edu	37	chr6	132938981	132938981	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tatgctaagcatcaggtcaaAactataataaatcttgcaaa	5	7	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:132938981A>C	ENST00000367931.1	-	2	363	c.364T>G	c.(364-366)Ttt>Gtt	p.F122V	TAAR2_ENST00000275191.2_Missense_Mutation_p.F77V|TAAR2_ENST00000537809.1_Missense_Mutation_p.F77V			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	122					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATCAGGTCAAAACTATAATAA	0.363																																					p.F122V		Atlas-SNP	.											.	TAAR2	45	.	0			c.T364G						PASS	.						77	74	75					6																	132938981		2203	4300	6503	SO:0001583	missense	9287	exon2			GGTCAAAACTATA	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.364T>G	6.37:g.132938981A>C	ENSP00000356908:p.Phe122Val	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	98	25	0.255102	NM_001033080	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480293	0.44044	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.39056	1.1;1.1;1.1	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.060936	0.64402	D	0.000003	T	0.44767	0.1309	L	0.40543	1.245	0.40300	D	0.978594	D	0.89917	1.0	D	0.91635	0.999	T	0.43750	-0.9372	10	0.42905	T	0.14	-34.3902	12.6876	0.56956	0.8767:0.0:0.0:0.1233	.	122	Q9P1P5	TAAR2_HUMAN	V	77;122;77	ENSP00000275191:F77V;ENSP00000356908:F122V;ENSP00000441263:F77V	ENSP00000275191:F77V	F	-	1	0	TAAR2	132980674	0.998000	0.40836	1.000000	0.80357	0.746000	0.42486	2.252000	0.43196	2.295000	0.77249	0.528000	0.53228	TTT	.	.	none		0.363	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		C	132938981	A	C	132938981	3	2	11	1	0	0	0	0	1	0	0	0	15487	14	1	5	695	5	TAAR2	6	132938981	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	9179717	132938981	38176086	196	2481										
EYA4	2070	hgsc.bcm.edu	37	chr6	133836535	133836535	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtctgacagattcctggctAacaaatgcacttaagtcttt	8	9	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:133836535A>G	ENST00000367895.5	+	17	2042	c.1578A>G	c.(1576-1578)ctA>ctG	p.L526L	EYA4_ENST00000355286.6_Silent_p.L503L|EYA4_ENST00000525849.1_Silent_p.L503L|EYA4_ENST00000531901.1_Silent_p.L532L|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.L526L|EYA4_ENST00000430974.2_Silent_p.L478L|EYA4_ENST00000452339.2_Silent_p.L472L|EYA4_ENST00000355167.3_Silent_p.L526L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	526					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATTCCTGGCTAACAAATGCAC	0.413																																					p.L526L	Melanoma(57;398 1237 3528 4702 7415)	Atlas-SNP	.											EYA4_ENST00000355167,NS,carcinoma,+2,2	EYA4	196	2	0			c.A1578G						PASS	.						192	183	186					6																	133836535		2203	4300	6503	SO:0001819	synonymous_variant	2070	exon17			CTGGCTAACAAAT	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1578A>G	6.37:g.133836535A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	94	20	0.212766	NM_172105	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	CCDS5165.1																																																																																			.	.	none		0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		G	133836535	A	G	133836535	2	3	11	1	0	0	0	0	0	0	0	1	5331	349	13	2		2	EYA4	6	133836535	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	897554	133836535	37278532	197	2482										
LTV1	84946	hgsc.bcm.edu	37	chr6	144171346	144171346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gattgttaaataaagcagctCcagtttcaggtatttttaat	7	5	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:144171346C>T	ENST00000367576.5	+	4	522	c.388C>T	c.(388-390)Cca>Tca	p.P130S		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	130						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TAAAGCAGCTCCAGTTTCAGG	0.318																																					p.P130S		Atlas-SNP	.											LTV1,NS,carcinoma,0,2	LTV1	48	2	0			c.C388T						scavenged	.						176	174	174					6																	144171346		2203	4300	6503	SO:0001583	missense	84946	exon4			GCAGCTCCAGTTT	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.388C>T	6.37:g.144171346C>T	ENSP00000356548:p.Pro130Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	164	3	0.0182927	NM_032860	Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260973	0.80246	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.59761	0.863	T	0.66060	-0.6017	9	0.32370	T	0.25	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	130	Q96GA3	LTV1_HUMAN	S	130	.	ENSP00000356548:P130S	P	+	1	0	LTV1	144213039	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.146000	0.77373	2.814000	0.96858	0.655000	0.94253	CCA	.	.	none		0.318	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		T	144171346	C	T	144171346	3	4	11	1	0	0	0	0	1	0	0	0	9081	855	30	2	402	2	LTV1	6	144171346	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	10334811	144171346	26943721	198	2483										
SYNJ2	8871	hgsc.bcm.edu	37	chr6	158504550	158504550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attcggaaacgagacagcatGgcccccgtgtctcccactgc	10	15	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:158504550G>A	ENST00000355585.4	+	21	3030	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.M985I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.M70I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.M985I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	985					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGACAGCATGGCCCCCGTGT	0.527																																					p.M985I		Atlas-SNP	.											.	SYNJ2	111	.	0			c.G2955A						PASS	.						106	99	102					6																	158504550		2203	4300	6503	SO:0001583	missense	8871	exon21			CAGCATGGCCCCC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2955G>A	6.37:g.158504550G>A	ENSP00000347792:p.Met985Ile	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	92	29	0.315217	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	1.051	-0.675929	0.03378	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.92699	-2.84;-3.09;-2.83;1.21	5.43	3.59	0.41128	Domain of unknown function DUF1866 (1);	0.963904	0.08620	N	0.918599	T	0.52273	0.1724	N	0.01109	-1.01	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.59815	-0.7383	10	0.05525	T	0.97	.	3.6538	0.08213	0.1642:0.151:0.5613:0.1235	.	985;985	O15056;O15056-3	SYNJ2_HUMAN;.	I	985;985;985;70	ENSP00000356089:M985I;ENSP00000356088:M985I;ENSP00000347792:M985I;ENSP00000356079:M70I	ENSP00000347792:M985I	M	+	3	0	SYNJ2	158424538	0.989000	0.36119	0.069000	0.20011	0.935000	0.57460	0.611000	0.24268	1.271000	0.44313	0.591000	0.81541	ATG	.	.	none		0.527	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158504550	G	A	158504550	3	1	11	1	0	0	0	0	1	0	0	0	15450	1348	47	2	3037	2	SYNJ2	6	158504550	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	14333204	158504550	12610517	199	2484										
TCP1	6950	hgsc.bcm.edu	37	chr6	160208813	160208813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccaacttctttgtcttgcaGatcagccagctcacaaagaa	6	12	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:160208813G>A	ENST00000321394.7	-	3	521	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000544255.1_5'UTR|TCP1_ENST00000392168.2_5'UTR|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000420894.2_Silent_p.L81L|TCP1_ENST00000546023.1_5'Flank	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	81					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTGTCTTGCAGATCAGCCAGC	0.403																																					p.L81L		Atlas-SNP	.											.	TCP1	37	.	0			c.C241T						PASS	.						100	99	99					6																	160208813		2203	4300	6503	SO:0001819	synonymous_variant	6950	exon3			CTTGCAGATCAGC	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.241C>T	6.37:g.160208813G>A		Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	455	124	0.272527	NM_030752	E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																			.	.	none		0.403	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		A	160208813	G	A	160208813	2	1	11	1	0	0	0	0	0	0	0	1	15706	933	33	2		2	TCP1	6	160208813	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1704263	160208813	10906254	200	2485										
PDE10A	10846	hgsc.bcm.edu	37	chr6	165848819	165848819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgggcccagcagggatgaggCggggttttccttcctttatc	14	10	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:165848819C>T	ENST00000366882.1	-	7	567	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PDE10A_ENST00000354448.4_Missense_Mutation_p.R138H|PDE10A_ENST00000539869.2_Missense_Mutation_p.R148H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	138	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.R138H(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGGGATGAGGCGGGGTTTTCC	0.488																																					p.R148H	Esophageal Squamous(22;308 615 5753 12038 40624)	Atlas-SNP	.											PDE10A,NS,carcinoma,-1,3	PDE10A	154	3	1	Substitution - Missense(1)	large_intestine(1)	c.G443A						PASS	.						146	125	132					6																	165848819		2203	4300	6503	SO:0001583	missense	10846	exon6			ATGAGGCGGGGTT	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.413G>A	6.37:g.165848819C>T	ENSP00000355847:p.Arg138His	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	139	40	0.28777	NM_001130690	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	16.42	3.118205	0.56505	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69306	-0.39;-0.39	5.32	2.57	0.30868	GAF (1);	0.473990	0.25535	N	0.030018	T	0.36441	0.0967	L	0.38175	1.15	0.21527	N	0.999651	P;P	0.52842	0.66;0.956	B;P	0.47102	0.149;0.537	T	0.28713	-1.0035	10	0.45353	T	0.12	.	2.4185	0.04442	0.1336:0.5251:0.1293:0.212	.	148;138	Q9ULW9;Q9Y233	.;PDE10_HUMAN	H	138;166;148;138;137	ENSP00000355847:R138H;ENSP00000346435:R138H	ENSP00000341187:R148H	R	-	2	0	PDE10A	165768809	0.001000	0.12720	0.070000	0.20053	0.702000	0.40608	0.827000	0.27421	0.321000	0.23259	0.460000	0.39030	CGC	.	.	none		0.488	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			T	165848819	C	T	165848819	3	4	11	1	0	0	0	0	1	0	0	0	11630	768	27	1	1994	1	PDE10A	6	165848819	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5640006	165848819	5266248	201	2486										
MLLT4	4301	hgsc.bcm.edu	37	chr6	168369872	168369872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggatgcaaaagagaagcgctCtaaaaggtatggacggttgc	14	6	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:168369872C>T	ENST00000447894.2	+	32	5315	c.5315C>T	c.(5314-5316)tCt>tTt	p.S1772F	MLLT4_ENST00000366806.2_Missense_Mutation_p.S1772F|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1691F|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1779F|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1782F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1772					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGAAGCGCTCTAAAAGGTAT	0.468			T	MLL	AL																																p.S1691F		Atlas-SNP	.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351	.	0			c.C5072T						PASS	.						107	113	111					6																	168369872		1981	4159	6140	SO:0001583	missense	4301	exon31			AGCGCTCTAAAAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5315C>T	6.37:g.168369872C>T	ENSP00000404595:p.Ser1772Phe	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	84	28	0.333333	NM_001207008	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	14.91	2.676349	0.47886	.	.	ENSG00000130396	ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894	T;T;T;T;T	0.04862	3.69;3.79;3.54;3.69;3.69	4.81	2.97	0.34412	.	0.783620	0.11677	N	0.540149	T	0.03564	0.0102	M	0.72479	2.2	0.09310	N	1	B	0.31227	0.314	B	0.32342	0.144	T	0.34875	-0.9811	10	0.59425	D	0.04	-2.7937	8.6982	0.34310	0.0:0.6327:0.2889:0.0784	.	1782	P55196-5	.	F	1779;1772;1691;1782;1772	ENSP00000252692:S1779F;ENSP00000355771:S1772F;ENSP00000375960:S1691F;ENSP00000383623:S1782F;ENSP00000404595:S1772F	ENSP00000252692:S1779F	S	+	2	0	MLLT4	168112721	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	1.210000	0.32370	0.418000	0.25898	0.655000	0.94253	TCT	.	.	none		0.468	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168369872	C	T	168369872	3	4	11	1	0	0	0	0	1	0	0	0	9629	913	32	2	5568	2	MLLT4	6	168369872	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2521053	168369872	2745195	202	2487										
THBS2	7058	hgsc.bcm.edu	37	chr6	169632988	169632988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agggcggggtcacccacctcGtccaggtcctcacagtgggt	14	14	2	0	rs148676859		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:169632988G>A	ENST00000366787.3	-	12	2025	c.1776C>T	c.(1774-1776)gaC>gaT	p.D592D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	592					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACCCACCTCGTCCAGGTCCT	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15698	0.0		0.0	False		,,,				2504	0.0				p.D592D	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											.	THBS2	230	.	0			c.C1776T						PASS	.	G		1,4399		0,1,2199	39	41	41		1776	-6.7	0.8	6	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	THBS2	NM_003247.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		592/1173	169632988	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	7058	exon12			CACCTCGTCCAGG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1776C>T	6.37:g.169632988G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	82	20	0.243902	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			G|1.000;A|0.000	0.000	weak		0.687	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169632988	G	A	169632988	2	1	11	1	0	0	0	0	0	0	0	1	15851	1136	40	1		1	THBS2	6	169632988	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1263116	169632988	1482079	203	2488										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627775	170627775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccatgtatacagactctgaaCccaggcaagaagttcccatg	8	12	1	3	rs6934830	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr6:170627775C>G	ENST00000476287.1	+	2	1405	c.1297C>G	c.(1297-1299)Ccc>Gcc	p.P433A	FAM120B_ENST00000540480.1_Missense_Mutation_p.P445A|FAM120B_ENST00000537664.1_Missense_Mutation_p.P456A|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	433			P -> A (in dbSNP:rs6934830).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGACTCTGAACCCAGGCAAGA	0.498																																					p.P433A		Atlas-SNP	.											FAM120B,colon,carcinoma,0,1	FAM120B	108	1	0			c.C1297G						scavenged	.						182	201	194					6																	170627775		2203	4299	6502	SO:0001583	missense	84498	exon2			TCTGAACCCAGGC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1297C>G	6.37:g.170627775C>G	ENSP00000417970:p.Pro433Ala	Somatic	93	2	0.0215054		WXS	Illumina HiSeq	Phase_I	127	4	0.0314961	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.794388	0.00077	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08720	3.06;3.09;3.1	3.07	-6.14	0.02111	.	2.097720	0.01397	N	0.013442	T	0.01353	0.0044	L	0.29908	0.895	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.12156	0.007;0.007	T	0.35251	-0.9796	10	0.24483	T	0.36	1.0923	4.696	0.12804	0.3085:0.3177:0.0:0.3738	rs6934830	433;433	Q96EK7;F2Z2E1	F120B_HUMAN;.	A	445;456;433	ENSP00000444125:P445A;ENSP00000440125:P456A;ENSP00000417970:P433A	ENSP00000436640:P433A	P	+	1	0	FAM120B	170469700	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.335000	0.00508	-2.968000	0.00287	-2.448000	0.00209	CCC	C|0.712;G|0.288	0.288	strong		0.498	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627775	C	G	170627775	3	3	11	1	0	0	0	0	1	0	0	0	5417	507	18	4	1299	4	FAM120B	6	170627775	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	994787	170627775	487292	204	2489										
CARD11	84433	hgsc.bcm.edu	37	chr7	2983885	2983885	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcctcatgaccgccatgttCttctcctcactgagctgtgc	7	16	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:2983885C>G	ENST00000396946.4	-	5	1048	c.645G>C	c.(643-645)aaG>aaC	p.K215N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	215					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.K208N(1)|p.K208del(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGCCATGTTCTTCTCCTCAC	0.577			Mis		DLBCL																																p.K215N		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	CARD11,colon,carcinoma,-2,6	CARD11	339	6	2	Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	c.G645C						PASS	.						186	114	138					7																	2983885		2203	4300	6503	SO:0001583	missense	84433	exon5			CATGTTCTTCTCC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.645G>C	7.37:g.2983885C>G	ENSP00000380150:p.Lys215Asn	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	292	160	0.547945	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015955	0.54468	.	.	ENSG00000198286	ENST00000396946	T	0.37915	1.17	4.16	-3.11	0.05299	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.57536	1.79	0.46336	D	0.998996	D	0.65815	0.995	D	0.69479	0.964	T	0.40979	-0.9534	10	0.52906	T	0.07	-28.1579	13.3536	0.60615	0.0:0.8991:0.0:0.1009	.	215	Q9BXL7	CAR11_HUMAN	N	215	ENSP00000380150:K215N	ENSP00000380150:K215N	K	-	3	2	CARD11	2950411	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	1.434000	0.34958	-1.079000	0.03113	-0.367000	0.07326	AAG	.	.	none		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2983885	C	G	2983885	3	3	11	1	0	0	0	0	1	0	0	0	2645	912	32	4	2903	4	CARD11	7	2983885	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10		2983885	156154778	205	2490										
PMS2	5395	hgsc.bcm.edu	37	chr7	6022454	6022454	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgaacactaaacacactcaCgctatgagcctctgcccctg	6	15	2	2	rs267608172		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:6022454C>T	ENST00000265849.7	-	12	2280		c.e12+1		PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000469652.1_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AACACACTCACGCTATGAGCC	0.517			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												.		Atlas-SNP	.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	PMS2,NS,lymphoid_neoplasm,0,1	PMS2	88	1	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.2174+1G>A	GRCh37	CS083966	PMS2	S		scavenged	.						20	21	21					7																	6022454		2200	4295	6495	SO:0001630	splice_region_variant	5395	exon13	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CACTCACGCTATG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2174+1G>A	7.37:g.6022454C>T		Somatic	513	0	0		WXS	Illumina HiSeq	Phase_I	650	5	0.00769231	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	-	16.11	3.030109	0.54790	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.058	0.89368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	5988980	1.000000	0.71417	0.015000	0.15790	0.005000	0.04900	7.772000	0.85439	2.347000	0.79759	0.555000	0.69702	.	.	.	weak		0.517	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron	T	6022454	C	T	6022454	5	4	11	1	0	0	0	0	0	0	1	0	12143	550	19	1	429	1	PMS2	7	6022454	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3038569	6022454	153116209	206	2491										
THSD7A	221981	hgsc.bcm.edu	37	chr7	11509616	11509616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttcaggtcgaaggctttcaGgacatctagaaaggcaaagg	12	7	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:11509616G>T	ENST00000423059.4	-	9	2509	c.2258C>A	c.(2257-2259)cCt>cAt	p.P753H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	753	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AAGGCTTTCAGGACATCTAGA	0.393										HNSCC(18;0.044)																											p.P753H		Atlas-SNP	.											THSD7A,mouth,carcinoma,+1,1	THSD7A	219	1	0			c.C2258A						PASS	.						47	40	43					7																	11509616		1858	4094	5952	SO:0001583	missense	221981	exon9			CTTTCAGGACATC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2258C>A	7.37:g.11509616G>T	ENSP00000406482:p.Pro753His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	85	28	0.329412	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716373	0.89205	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61742	0.08	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77008	-0.2747	10	0.56958	D	0.05	.	19.5548	0.95338	0.0:0.0:1.0:0.0	.	753	Q9UPZ6	THS7A_HUMAN	H	753	ENSP00000406482:P753H	ENSP00000262042:P753H	P	-	2	0	THSD7A	11476141	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.686000	0.91538	0.650000	0.86243	CCT	.	.	none		0.393	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11509616	G	T	11509616	3	4	11	1	0	0	0	0	1	0	0	0	15876	1000	35	4	2791	4	THSD7A	7	11509616	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	5487162	11509616	147629047	207	2492										
TAX1BP1	8887	hgsc.bcm.edu	37	chr7	27831747	27831747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtcaacgtacgagacagaacGatggcagacctgcatactgc	11	11	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:27831747G>A	ENST00000396319.2	+	9	1249	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	TAX1BP1_ENST00000265393.6_Silent_p.T387T|TAX1BP1_ENST00000409980.1_Silent_p.T387T|TAX1BP1_ENST00000433216.2_Silent_p.T230T|TAX1BP1_ENST00000543117.1_Silent_p.T387T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	387	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.T387T(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAGACAGAACGATGGCAGACC	0.443																																					p.T387T		Atlas-SNP	.											TAX1BP1,rectum,carcinoma,0,2	TAX1BP1	71	2	2	Substitution - coding silent(2)	large_intestine(2)	c.G1161A						scavenged	.						106	96	99					7																	27831747		2203	4300	6503	SO:0001819	synonymous_variant	8887	exon9			CAGAACGATGGCA	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1161G>A	7.37:g.27831747G>A		Somatic	144	2	0.0138889		WXS	Illumina HiSeq	Phase_I	196	4	0.0204082	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																			.	.	none		0.443	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		A	27831747	G	A	27831747	2	1	11	1	0	0	0	0	0	0	0	1	15591	1045	37	1		1	TAX1BP1	7	27831747	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	16322131	27831747	131306916	208	2493										
FKBP9	11328	hgsc.bcm.edu	37	chr7	33014908	33014908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caagcccccgagttgccctcGgaccatccaggtgtctgatt	10	15	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:33014908G>A	ENST00000242209.4	+	3	651	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP9_ENST00000538336.1_Missense_Mutation_p.R214Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.R23Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	161					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGTTGCCCTCGGACCATCCAG	0.473																																					p.R161Q		Atlas-SNP	.											FKBP9,brain,glioma,0,9	FKBP9	335	9	0			c.G482A						scavenged	.						99	87	91					7																	33014908		2203	4300	6503	SO:0001583	missense	11328	exon3			GCCCTCGGACCAT	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.482G>A	7.37:g.33014908G>A	ENSP00000242209:p.Arg161Gln	Somatic	130	2	0.0153846		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720086	0.89205	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	D;D;D	0.86164	-2.08;-2.08;-2.08	5.36	5.36	0.76844	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92752	0.6217	10	0.56958	D	0.05	-4.2611	19.0957	0.93249	0.0:0.0:1.0:0.0	.	214;161;161	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	Q	161;214;23	ENSP00000242209:R161Q;ENSP00000439250:R214Q;ENSP00000437504:R23Q	ENSP00000242209:R161Q	R	+	2	0	FKBP9	32981433	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	9.809000	0.99208	2.524000	0.85096	0.650000	0.86243	CGG	.	.	none		0.473	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33014908	G	A	33014908	3	1	11	1	0	0	0	0	1	0	0	0	5915	1116	39	1	492	1	FKBP9	7	33014908	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	5183161	33014908	126123755	209	2494										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47876625	47876625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcaggtagcggctggaggagGgcctgctgtacaccgacagc	17	11	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:47876625G>A	ENST00000289672.2	-	37	5887	c.5837C>T	c.(5836-5838)cCc>cTc	p.P1946L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1946					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGGAGGAGGGCCTGCTGTA	0.582																																					p.P1946L		Atlas-SNP	.											.	PKD1L1	328	.	0			c.C5837T						PASS	.						60	53	55					7																	47876625		2203	4300	6503	SO:0001583	missense	168507	exon37			GAGGAGGGCCTGC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5837C>T	7.37:g.47876625G>A	ENSP00000289672:p.Pro1946Leu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	169	42	0.248521	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354085	0.82243	.	.	ENSG00000158683	ENST00000289672	T	0.28895	1.59	5.1	4.22	0.49857	.	0.000000	0.64402	D	0.000005	T	0.58481	0.2125	M	0.87381	2.88	0.49687	D	0.999811	D	0.89917	1.0	D	0.87578	0.998	T	0.64360	-0.6426	10	0.72032	D	0.01	-33.0327	11.2105	0.48795	0.0904:0.0:0.9096:0.0	.	1946	Q8TDX9	PK1L1_HUMAN	L	1946	ENSP00000289672:P1946L	ENSP00000289672:P1946L	P	-	2	0	PKD1L1	47843150	1.000000	0.71417	0.890000	0.34922	0.996000	0.88848	6.472000	0.73567	1.134000	0.42165	0.655000	0.94253	CCC	.	.	none		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47876625	G	A	47876625	3	1	11	1	0	0	0	0	1	0	0	0	11964	1232	43	2	2796	2	PKD1L1	7	47876625	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	14861717	47876625	111262038	210	2495										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47968840	47968840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcagtcaccgccattgcctCagacatgttgtgtagcctca	10	13	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:47968840C>T	ENST00000289672.2	-	7	1071	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	341					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E341K(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCATTGCCTCAGACATGTTG	0.527																																					p.E341K		Atlas-SNP	.											PKD1L1,NS,carcinoma,0,1	PKD1L1	328	1	1	Substitution - Missense(1)	breast(1)	c.G1021A						scavenged	.						144	137	139					7																	47968840		2203	4300	6503	SO:0001583	missense	168507	exon7			TTGCCTCAGACAT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1021G>A	7.37:g.47968840C>T	ENSP00000289672:p.Glu341Lys	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	211	3	0.014218	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157484	0.09236	.	.	ENSG00000158683	ENST00000289672	T	0.19806	2.12	4.11	1.18	0.20946	.	29.947800	0.00166	N	0.000000	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.20806	-1.0264	10	0.20046	T	0.44	-3.1752	6.1542	0.20328	0.0:0.5268:0.3683:0.1049	.	341	Q8TDX9	PK1L1_HUMAN	K	341	ENSP00000289672:E341K	ENSP00000289672:E341K	E	-	1	0	PKD1L1	47935365	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.107000	0.15375	0.126000	0.18424	0.579000	0.79373	GAG	.	.	none		0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47968840	C	T	47968840	3	4	11	1	0	0	0	0	1	0	0	0	11964	835	29	2	7732	2	PKD1L1	7	47968840	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	92215	47968840	111169823	211	2496										
CCT6A	908	hgsc.bcm.edu	37	chr7	56129454	56129454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctttaggttcttgctcagaaCtctggttttgaccttcagga	9	9	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:56129454C>G	ENST00000275603.4	+	12	1581	c.1362C>G	c.(1360-1362)aaC>aaG	p.N454K	CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.N423K|SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000413756.1_5'Flank|CCT6A_ENST00000335503.3_Missense_Mutation_p.N409K|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000434526.2_5'Flank|SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000395436.2_5'Flank|SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000342190.6_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	454					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGCTCAGAACTCTGGTTTTG	0.318																																					p.N454K		Atlas-SNP	.											.	CCT6A	44	.	0			c.C1362G						PASS	.						41	42	41					7																	56129454		2203	4300	6503	SO:0001583	missense	908	exon12			TCAGAACTCTGGT	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1362C>G	7.37:g.56129454C>G	ENSP00000275603:p.Asn454Lys	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	295	66	0.223729	NM_001762	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148303	0.57151	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	D;D;D	0.86366	-2.11;-2.11;-2.11	4.96	2.18	0.27775	.	0.044542	0.85682	N	0.000000	D	0.94703	0.8291	H	0.97587	4.035	0.80722	D	1	P;P;P	0.37663	0.566;0.604;0.559	P;P;P	0.56278	0.598;0.795;0.711	D	0.93087	0.6496	10	0.87932	D	0	-14.3993	9.0157	0.36168	0.0:0.7582:0.0:0.2418	.	423;409;454	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	K	454;409;423;312	ENSP00000275603:N454K;ENSP00000352019:N409K;ENSP00000438488:N423K	ENSP00000275603:N454K	N	+	3	2	CCT6A	56096948	0.746000	0.28272	1.000000	0.80357	0.988000	0.76386	-0.053000	0.11846	0.157000	0.19338	0.456000	0.33151	AAC	.	.	none		0.318	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		G	56129454	C	G	56129454	3	3	11	1	0	0	0	0	1	0	0	0	2957	564	20	4	1408	4	CCT6A	7	56129454	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	8160614	56129454	103009209	212	2497										
AUTS2	26053	hgsc.bcm.edu	37	chr7	70231244	70231244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccagcacacccaccagcacaCgcaccagcacaccttcacgc	5	22	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:70231244C>T	ENST00000342771.4	+	9	1934	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	AUTS2_ENST00000406775.2_Missense_Mutation_p.T538M	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	538	His-rich.							p.T538M(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		caccagcacacgcaccagcac	0.667																																					p.T538M		Atlas-SNP	.											AUTS2,caecum,carcinoma,-1,2	AUTS2	173	2	1	Substitution - Missense(1)	endometrium(1)	c.C1613T						scavenged	.						286	266	273					7																	70231244		2203	4300	6503	SO:0001583	missense	26053	exon9			AGCACACGCACCA	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1613C>T	7.37:g.70231244C>T	ENSP00000344087:p.Thr538Met	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_001127231	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.626237|4.626237	0.87560|0.87560	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.53640	.|0.61;0.61	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.049222	.|0.85682	.|D	.|0.000000	T|T	0.66386|0.66386	0.2784|0.2784	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.61637|0.61637	-0.7022|-0.7022	5|9	.|.	.|.	.|.	-12.9426|-12.9426	19.9983|19.9983	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|538;538	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	C|M	80|538	.|ENSP00000385263:T538M;ENSP00000344087:T538M	.|.	R|T	+|+	1|2	0|0	AUTS2|AUTS2	69869180|69869180	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	7.433000|7.433000	0.80362|0.80362	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	CGC|ACG	.	.	none		0.667	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70231244	C	T	70231244	3	4	11	1	0	0	0	0	1	0	0	0	1225	536	19	1	1792	1	AUTS2	7	70231244	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	14101790	70231244	88907419	213	2498										
CLIP2	7461	hgsc.bcm.edu	37	chr7	73731906	73731906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccagcggcctgaagcccccCggccgtggggggaagcactc	15	17	0	1	rs148561130	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:73731906C>T	ENST00000395060.1	+	1	30	c.30C>T	c.(28-30)ccC>ccT	p.P10P	CLIP2_ENST00000223398.6_Silent_p.P10P|CLIP2_ENST00000361545.5_Silent_p.P10P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	10						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGAAGCCCCCCGGCCGTGGGG	0.667													C|||	123	0.0245607	0.0	0.0432	5008	,	,		18799	0.0427		0.0298	False		,,,				2504	0.0204				p.P10P		Atlas-SNP	.											.	CLIP2	134	.	0			c.C30T						PASS	.	C	,	43,4361		0,43,2159	43	49	47		30,30	0.5	1	7	dbSNP_134	47	357,8239		6,345,3947	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	6,388,6106	TT,TC,CC		4.1531,0.9764,3.0769	,	10/1047,10/1012	73731906	400,12600	2202	4298	6500	SO:0001819	synonymous_variant	7461	exon2			GCCCCCCGGCCGT	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.30C>T	7.37:g.73731906C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	163	35	0.214724	NM_032421	O14527|O43611	Silent	SNP	ENST00000395060.1	37	CCDS5569.1																																																																																			C|0.968;T|0.032	0.032	strong		0.667	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		T	73731906	C	T	73731906	2	4	11	1	0	0	0	0	0	0	0	1	3533	639	23	1		1	CLIP2	7	73731906	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3500662	73731906	85406757	214	2499										
SEMA3E	9723	hgsc.bcm.edu	37	chr7	82997329	82997329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagtaaaccaaggtccatcTtaaccactctgtcatctgtc	6	12	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:82997329T>G	ENST00000307792.3	-	17	2368	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.K574T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	634	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGTCCATCTTAACCACTCT	0.418																																					p.K634T		Atlas-SNP	.											.	SEMA3E	125	.	0			c.A1901C						PASS	.						118	114	115					7																	82997329		2203	4300	6503	SO:0001583	missense	9723	exon17			TCCATCTTAACCA	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1901A>C	7.37:g.82997329T>G	ENSP00000303212:p.Lys634Thr	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	143	30	0.20979	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386952	0.61956	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01495	4.83;4.83	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.173767	0.49916	D	0.000122	T	0.03959	0.0111	M	0.68593	2.085	0.39645	D	0.970385	P	0.37688	0.605	B	0.39771	0.309	T	0.56372	-0.7990	10	0.22109	T	0.4	.	16.0802	0.81001	0.0:0.0:0.0:1.0	.	634	O15041	SEM3E_HUMAN	T	634;574;634	ENSP00000303212:K634T;ENSP00000405052:K574T	ENSP00000303212:K634T	K	-	2	0	SEMA3E	82835265	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.679000	0.54634	2.201000	0.70794	0.477000	0.44152	AAG	.	.	none		0.418	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		G	82997329	T	G	82997329	3	3	11	1	0	0	0	0	1	0	0	0	14028	1609	56	5	430	5	SEMA3E	7	82997329	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	9265423	82997329	76141334	215	2500										
TFPI2	7980	hgsc.bcm.edu	37	chr7	93519470	93519470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttctatcctccagcaagcatCgtcgcaagcctcccaggtgt	8	15	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:93519470C>T	ENST00000222543.5	-	2	562	c.250G>A	c.(250-252)Gat>Aat	p.D84N	GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Missense_Mutation_p.D84N	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	84	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAGCAAGCATCGTCGCAAGCC	0.617																																					p.D84N		Atlas-SNP	.											.	TFPI2	37	.	0			c.G250A						PASS	.						33	35	34					7																	93519470		2203	4300	6503	SO:0001583	missense	7980	exon2			AAGCATCGTCGCA	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.250G>A	7.37:g.93519470C>T	ENSP00000222543:p.Asp84Asn	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_006528	Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815932	0.32145	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	T;T;T	0.56275	0.47;0.47;0.55	5.09	-1.78	0.07957	Proteinase inhibitor I2, Kunitz metazoa (5);	0.446267	0.26542	N	0.023783	T	0.18087	0.0434	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.23540	0.087;0.0;0.011;0.0	B;B;B;B	0.11329	0.006;0.0;0.005;0.0	T	0.26224	-1.0109	10	0.13853	T	0.58	.	6.3313	0.21272	0.0:0.2858:0.2387:0.4755	.	55;73;84;84	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	N	84;84;5	ENSP00000222543:D84N;ENSP00000438861:D84N;ENSP00000416370:D5N	ENSP00000222543:D84N	D	-	1	0	TFPI2	93357406	0.018000	0.18449	0.000000	0.03702	0.014000	0.08584	0.525000	0.22956	-0.223000	0.09943	-0.657000	0.03884	GAT	.	.	none		0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		T	93519470	C	T	93519470	3	4	11	1	0	0	0	0	1	0	0	0	15806	884	31	1	473	1	TFPI2	7	93519470	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	10522141	93519470	65619193	216	2501										
DLX6	1750	hgsc.bcm.edu	37	chr7	96639340	96639340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccacaccaggacacgatgcAgagaccacagatgatgtgag	11	11	0	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:96639340A>C	ENST00000518156.2	+	3	1293	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.Q160P|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Missense_Mutation_p.Q260P|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	170					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GACACGATGCAGAGACCACAG	0.547																																					p.Q288P		Atlas-SNP	.											.	DLX6	37	.	0			c.A863C						PASS	.						23	24	23					7																	96639340		2121	4253	6374	SO:0001583	missense	1750	exon3			CGATGCAGAGACC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.863A>C	7.37:g.96639340A>C	ENSP00000428480:p.Gln288Pro	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	190	39	0.205263	NM_005222	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807640	0.70797	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.91686	-2.89;-2.83;-2.89	5.76	5.76	0.90799	.	1.660890	0.02777	N	0.120406	D	0.91061	0.7187	L	0.42245	1.32	0.80722	D	1	B	0.17852	0.024	B	0.20577	0.03	T	0.60999	-0.7151	10	0.20519	T	0.43	-15.5545	16.0796	0.80995	1.0:0.0:0.0:0.0	.	260	P56179-2	.	P	288;260;160	ENSP00000428480:Q288P;ENSP00000007660:Q260P;ENSP00000451635:Q160P	ENSP00000007660:Q260P	Q	+	2	0	DLX6	96477276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.085000	0.76875	2.206000	0.71126	0.533000	0.62120	CAG	.	.	none		0.547	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		C	96639340	A	C	96639340	3	2	11	1	0	0	0	0	1	0	0	0	4575	188	7	5	873	5	DLX6	7	96639340	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	3119870	96639340	62499323	217	2502										
NPTX2	4885	hgsc.bcm.edu	37	chr7	98257799	98257799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgggaccgcgtccttcgcgCacaagaaattgtcaacatcg	10	12	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:98257799C>T	ENST00000265634.3	+	5	1319	c.1154C>T	c.(1153-1155)gCa>gTa	p.A385V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	385	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCTTCGCGCACAAGAAATT	0.567																																					p.A385V		Atlas-SNP	.											NPTX2,NS,carcinoma,+1,1	NPTX2	45	1	0			c.C1154T						scavenged	.						99	78	85					7																	98257799		2203	4300	6503	SO:0001583	missense	4885	exon5			TTCGCGCACAAGA		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1154C>T	7.37:g.98257799C>T	ENSP00000265634:p.Ala385Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	154	3	0.0194805	NM_002523	A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331804	0.60853	.	.	ENSG00000106236	ENST00000265634	T	0.06608	3.28	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.094221	0.85682	D	0.000000	T	0.05731	0.0150	N	0.14661	0.345	0.52099	D	0.999947	B	0.32653	0.379	B	0.28385	0.089	T	0.45205	-0.9277	10	0.56958	D	0.05	-15.4807	19.3514	0.94389	0.0:1.0:0.0:0.0	.	385	P47972	NPTX2_HUMAN	V	385	ENSP00000265634:A385V	ENSP00000265634:A385V	A	+	2	0	NPTX2	98095735	0.643000	0.27269	0.048000	0.18961	0.741000	0.42261	3.303000	0.51858	2.826000	0.97356	0.561000	0.74099	GCA	.	.	none		0.567	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98257799	C	T	98257799	3	4	11	1	0	0	0	0	1	0	0	0	10603	710	25	2	1172	2	NPTX2	7	98257799	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1618459	98257799	60880864	218	2503										
GPC2	221914	hgsc.bcm.edu	37	chr7	99774749	99774749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aactccgggtgacctttgccTcgctcccgggtccgggacca	12	16	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:99774749T>C	ENST00000292377.2	-	1	241	c.74A>G	c.(73-75)gAg>gGg	p.E25G	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000426455.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000394018.2_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	25					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCTTTGCCTCGCTCCCGGG	0.647																																					p.E25G		Atlas-SNP	.											GPC2,NS,carcinoma,-1,1	GPC2	49	1	0			c.A74G						scavenged	.						23	27	26					7																	99774749		2202	4299	6501	SO:0001583	missense	221914	exon1			TTTGCCTCGCTCC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.74A>G	7.37:g.99774749T>C	ENSP00000292377:p.Glu25Gly	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	246	3	0.0121951	NM_152742	A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244691	0.59103	.	.	ENSG00000213420	ENST00000292377	T	0.51325	0.71	4.72	4.72	0.59763	.	0.488362	0.18367	N	0.143400	T	0.37489	0.1005	L	0.36672	1.1	0.24090	N	0.995919	B	0.18461	0.028	B	0.21546	0.035	T	0.19128	-1.0315	10	0.32370	T	0.25	-7.0628	10.4988	0.44794	0.0:0.0:0.0:1.0	.	25	Q8N158	GPC2_HUMAN	G	25	ENSP00000292377:E25G	ENSP00000292377:E25G	E	-	2	0	GPC2	99612685	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.186000	0.32078	1.989000	0.58080	0.387000	0.25754	GAG	.	.	none		0.647	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		C	99774749	T	C	99774749	3	2	11	1	0	0	0	0	1	0	0	0	6598	1551	54	3	1705	3	GPC2	7	99774749	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1516950	99774749	59363914	219	2504										
MUC17	140453	hgsc.bcm.edu	37	chr7	100678405	100678405	+	Silent	SNP	T	T	C													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccagtggccagttctgaggcTagcaccctttcaacatctcc					rs4729648	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:100678405T>C	ENST00000306151.4	+	3	3772	c.3708T>C	c.(3706-3708)gcT>gcC	p.A1236A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1236	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)					GTTCTGAGGCTAGCACCCTTT	0.522													T|||	989	0.197484	0.2663	0.0893	5008	,	,		30674	0.2212		0.1083	False		,,,				2504	0.2485				p.A1236A		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.T3708C						scavenged	.	T		340,4066	144.2+/-179.2	0,340,1863	305	293	297		3708	-0.9	0	7	dbSNP_111	297	209,8391	66.0+/-128.3	0,209,4091	no	coding-synonymous	MUC17	NM_001040105.1		0,549,5954	CC,CT,TT		2.4302,7.7167,4.2211		1236/4494	100678405	549,12457	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TGAGGCTAGCACC	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.3708T>C	7.37:g.100678405T>C		Somatic	116	17	0.146552		WXS	Illumina HiSeq	Phase_I	151	44	0.291391	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.936;C|0.064	0.064	strong		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678405	T	C	100678405	2	2	11	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100678405	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	903656	100678405	58460258	220	2505	47	2								
MUC17	140453	hgsc.bcm.edu	37	chr7	100678407	100678407	+	Missense_Mutation	SNP	G	G	A													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtggccagttctgaggctaGcaccctttcaacatctcccg					rs4729649	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:100678407G>A	ENST00000306151.4	+	3	3774	c.3710G>A	c.(3709-3711)aGc>aAc	p.S1237N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1237	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)					TCTGAGGCTAGCACCCTTTCA	0.527													G|||	989	0.197484	0.2663	0.0893	5008	,	,		29474	0.2212		0.1083	False		,,,				2504	0.2485				p.S1237N		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.G3710A						scavenged	.	G	ASN/SER	354,4052	149.2+/-183.4	0,354,1849	303	291	295		3710	-1.7	0	7	dbSNP_111	295	220,8380	66.0+/-128.3	0,220,4080	no	missense	MUC17	NM_001040105.1	46	0,574,5929	AA,AG,GG		2.5581,8.0345,4.4133	benign	1237/4494	100678407	574,12432	2203	4300	6503	SO:0001583	missense	140453	exon3			AGGCTAGCACCCT	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.3710G>A	7.37:g.100678407G>A	ENSP00000302716:p.Ser1237Asn	Somatic	114	17	0.149123		WXS	Illumina HiSeq	Phase_I	146	41	0.280822	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.984	-0.696233	0.03279	0.080345	0.025581	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.47235	-0.9133	9	0.26408	T	0.33	.	2.9027	0.05711	0.0:0.3166:0.4155:0.2679	rs4729649	1237	Q685J3	MUC17_HUMAN	N	1237	ENSP00000302716:S1237N	ENSP00000302716:S1237N	S	+	2	0	MUC17	100465127	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.728000	0.00807	-1.139000	0.02881	0.134000	0.15878	AGC	G|0.948;A|0.052	0.052	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678407	G	A	100678407	3	1	11	1	0	0	0	0	1	0	0	0	9974	971	34	2	3720	2	MUC17	7	100678407	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2	100678407	58460256	221	2506	47	2								
MUC17	140453	hgsc.bcm.edu	37	chr7	100680017	100680017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcaccctttcagcaactcctAttgacaccagcacccctgtg	6	17	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:100680017A>G	ENST00000306151.4	+	3	5384	c.5320A>G	c.(5320-5322)Att>Gtt	p.I1774V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1774	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)					AGCAACTCCTATTGACACCAG	0.493																																					p.I1774V		Atlas-SNP	.											MUC17,right_lower_lobe,carcinoma,-1,1	MUC17	804	1	0			c.A5320G						scavenged	.						279	291	287					7																	100680017		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTCCTATTGACA	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.5320A>G	7.37:g.100680017A>G	ENSP00000302716:p.Ile1774Val	Somatic	97	3	0.0309278		WXS	Illumina HiSeq	Phase_I	166	4	0.0240964	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.528736	0.00147	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42982	-0.9419	9	0.11794	T	0.64	.	4.2197	0.10552	0.2353:0.4114:0.3533:0.0	.	1774	Q685J3	MUC17_HUMAN	V	1774	ENSP00000302716:I1774V	ENSP00000302716:I1774V	I	+	1	0	MUC17	100466737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.563000	0.00430	-4.292000	0.00058	-3.891000	0.00017	ATT	.	.	none		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100680017	A	G	100680017	3	3	11	1	0	0	0	0	1	0	0	0	9974	449	16	2	5330	2	MUC17	7	100680017	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1610	100680017	58458646	222	2507										
MUC17	140453	hgsc.bcm.edu	37	chr7	100680261	100680261	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcctacacctgctgaaggtaCcagcatagcaacctcaacgc	7	15	1	1	rs141195508	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:100680261C>G	ENST00000306151.4	+	3	5628	c.5564C>G	c.(5563-5565)aCc>aGc	p.T1855S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1855	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)	p.T1855N(1)		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)					GCTGAAGGTACCAGCATAGCA	0.478													-|||	488	0.0974441	0.0877	0.0144	5008	,	,		24680	0.1855		0.004	False		,,,				2504	0.1748				p.T1855S		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	1	Substitution - Missense(1)	lung(1)	c.C5564G						scavenged	.						209	218	215					7																	100680261		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGGTACCAGCAT	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.5564C>G	7.37:g.100680261C>G	ENSP00000302716:p.Thr1855Ser	Somatic	69	9	0.130435		WXS	Illumina HiSeq	Phase_I	86	25	0.290698	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.911	-0.450614	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.824	-0.378	0.12497	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	P	0.46912	0.886	B	0.31245	0.126	T	0.51521	-0.8695	9	0.24483	T	0.36	.	5.8673	0.18783	0.3073:0.6927:0.0:0.0	.	1855	Q685J3	MUC17_HUMAN	S	1855	ENSP00000302716:T1855S	ENSP00000302716:T1855S	T	+	2	0	MUC17	100466981	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.049000	0.11924	-0.088000	0.12506	0.134000	0.15878	ACC	C|0.997;G|0.002	0.002	alt		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100680261	C	G	100680261	3	3	11	1	0	0	0	0	1	0	0	0	9974	507	18	4	5574	4	MUC17	7	100680261	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	244	100680261	58458402	223	2508										
CUX1	1523	hgsc.bcm.edu	37	chr7	101559405	101559405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccccaacagagagaactcgAtgccaccgcaacggtattgg	10	13	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:101559405A>G	ENST00000292535.7	+	2	79	c.41A>G	c.(40-42)gAt>gGt	p.D14G	CUX1_ENST00000360264.3_Missense_Mutation_p.D25G|CUX1_ENST00000547394.2_Missense_Mutation_p.D25G|CUX1_ENST00000546411.2_Missense_Mutation_p.D14G|CUX1_ENST00000437600.4_Missense_Mutation_p.D25G|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Missense_Mutation_p.D25G|CUX1_ENST00000549414.2_Missense_Mutation_p.D14G|CUX1_ENST00000556210.1_Missense_Mutation_p.D14G|CUX1_ENST00000550008.2_Missense_Mutation_p.D14G|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.D25G	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	14					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.D25V(1)|p.D14V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAACTCGATGCCACCGCA	0.502																																					p.D25G		Atlas-SNP	.											CUX1_ENST00000292538,colon,carcinoma,-1,4	CUX1	253	4	2	Substitution - Missense(2)	ovary(2)	c.A74G						scavenged	.						154	149	151					7																	101559405		2203	4300	6503	SO:0001583	missense	1523	exon2			AACTCGATGCCAC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.41A>G	7.37:g.101559405A>G	ENSP00000292535:p.Asp14Gly	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	206	4	0.0194175	NM_001202544	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067755	0.76301	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.59224	1.41;0.28;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.70657	0.3249	L	0.52011	1.625	0.80722	D	1	D;D;D;D;B;D	0.89917	0.996;0.997;0.998;0.998;0.289;1.0	P;D;D;D;B;D	0.77557	0.906;0.989;0.927;0.99;0.045;0.983	T	0.72721	-0.4208	10	0.62326	D	0.03	-15.4583	14.5506	0.68065	1.0:0.0:0.0:0.0	.	14;25;25;25;25;25	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	G	25;25;25;25;25;25;14;14;14;14;14	ENSP00000292538:D25G;ENSP00000449371:D25G;ENSP00000353401:D25G;ENSP00000409745:D25G;ENSP00000414091:D25G;ENSP00000292535:D14G;ENSP00000446630:D14G;ENSP00000447373:D14G;ENSP00000450125:D14G;ENSP00000451558:D14G	ENSP00000292535:D14G	D	+	2	0	CUX1	101346125	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.294000	0.89934	2.169000	0.68431	0.533000	0.62120	GAT	.	.	none		0.502	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101559405	A	G	101559405	3	3	11	1	0	0	0	0	1	0	0	0	4064	333	12	2	114	2	CUX1	7	101559405	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	879144	101559405	57579258	224	2509										
PSMC2	5701	hgsc.bcm.edu	37	chr7	103004631	103004631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcattgagcctcccaagggCgtgctgctctttggtccacc	12	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:103004631C>T	ENST00000435765.1	+	9	1044	c.633C>T	c.(631-633)ggC>ggT	p.G211G	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.G211G|PSMC2_ENST00000544811.1_Silent_p.G74G|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CTCCCAAGGGCGTGCTGCTCT	0.493																																					p.G211G		Atlas-SNP	.											PSMC2,rectum,carcinoma,0,1	PSMC2	38	1	0			c.C633T						scavenged	.						107	93	98					7																	103004631		2203	4300	6503	SO:0001819	synonymous_variant	5701	exon8			CAAGGGCGTGCTG	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.633C>T	7.37:g.103004631C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_002803	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																			.	.	none		0.493	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103004631	C	T	103004631	2	4	11	1	0	0	0	0	0	0	0	1	12686	755	27	1		1	PSMC2	7	103004631	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1445226	103004631	56134032	225	2510										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113519070	113519070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtagtagctttcaaactccTcgtattatctctttttcccc	4	12	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:113519070T>C	ENST00000284601.3	-	4	2145	c.2077A>G	c.(2077-2079)Agg>Ggg	p.R693G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	693					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCAAACTCCTCGTATTATCT	0.398																																					p.R693G		Atlas-SNP	.											PPP1R3A,NS,carcinoma,+1,1	PPP1R3A	317	1	0			c.A2077G						scavenged	.						253	247	249					7																	113519070		2203	4300	6503	SO:0001583	missense	5506	exon4			AACTCCTCGTATT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2077A>G	7.37:g.113519070T>C	ENSP00000284601:p.Arg693Gly	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	353	4	0.0113314	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	4.900	0.167344	0.09339	.	.	ENSG00000154415	ENST00000284601	T	0.19938	2.11	5.69	3.31	0.37934	.	0.421244	0.27901	N	0.017381	T	0.16214	0.0390	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20538	-1.0272	10	0.51188	T	0.08	-2.58	5.8524	0.18699	0.0:0.2251:0.1296:0.6453	.	693	Q16821	PPR3A_HUMAN	G	693	ENSP00000284601:R693G	ENSP00000284601:R693G	R	-	1	2	PPP1R3A	113306306	0.000000	0.05858	0.001000	0.08648	0.660000	0.38997	-0.075000	0.11431	0.428000	0.26173	0.528000	0.53228	AGG	.	.	none		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113519070	T	C	113519070	3	2	11	1	0	0	0	0	1	0	0	0	12371	1550	54	3	1295	3	PPP1R3A	7	113519070	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	10514439	113519070	45619593	226	2511										
RNF133	168433	hgsc.bcm.edu	37	chr7	122338257	122338257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccccctcttttactactcgaAgttggagttgtccaaatgtg	8	11	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:122338257A>C	ENST00000340112.2	-	1	953	c.716T>G	c.(715-717)cTt>cGt	p.L239R	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	239					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TACTACTCGAAGTTGGAGTTG	0.388																																					p.L239R	Colon(198;1778 2057 7449 19869 45985)	Atlas-SNP	.											.	RNF133	41	.	0			c.T716G						PASS	.						157	151	153					7																	122338257		2203	4300	6503	SO:0001583	missense	168433	exon1			ACTCGAAGTTGGA	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.716T>G	7.37:g.122338257A>C	ENSP00000344489:p.Leu239Arg	Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	455	87	0.191209	NM_139175	A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035419	0.35893	.	.	ENSG00000188050	ENST00000340112	T	0.16597	2.33	5.53	5.53	0.82687	.	0.435749	0.19868	U	0.104271	T	0.38348	0.1037	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.06516	-1.0822	10	0.49607	T	0.09	.	13.8971	0.63778	1.0:0.0:0.0:0.0	.	239	Q8WVZ7	RN133_HUMAN	R	239	ENSP00000344489:L239R	ENSP00000344489:L239R	L	-	2	0	RNF133	122125493	0.933000	0.31639	0.140000	0.22221	0.021000	0.10359	5.341000	0.65964	2.099000	0.63709	0.402000	0.26972	CTT	.	.	none		0.388	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		C	122338257	A	C	122338257	3	2	11	1	0	0	0	0	1	0	0	0	13439	72	3	5	418	5	RNF133	7	122338257	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	8819187	122338257	36800406	227	2512										
PAX4	5078	hgsc.bcm.edu	37	chr7	127253851	127253851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcttggggagaagatagtcCgattccggtggccggtccct	16	10	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:127253851C>T	ENST00000341640.2	-	4	702	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	PAX4_ENST00000463946.1_Missense_Mutation_p.R164Q|PAX4_ENST00000338516.3_Missense_Mutation_p.R174Q|PAX4_ENST00000378740.2_Missense_Mutation_p.R166Q	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	174					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAAGATAGTCCGATTCCGGTG	0.587																																					p.R166Q	Ovarian(113;737 1605 7858 27720 34092)	Atlas-SNP	.											PAX4,NS,carcinoma,0,1	PAX4	66	1	0			c.G497A						scavenged	.						85	83	84					7																	127253851		2203	4300	6503	SO:0001583	missense	5078	exon4			ATAGTCCGATTCC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.497G>A	7.37:g.127253851C>T	ENSP00000339906:p.Arg166Gln	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	147	36	0.244898	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598306	0.96614	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99150	-5.49;-5.49;-5.49	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.070525	0.64402	D	0.000019	D	0.99423	0.9796	M	0.91249	3.19	0.53688	D	0.999971	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.994	D	0.98683	1.0693	10	0.87932	D	0	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	166;164;174;164	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	Q	166;174;174;164	ENSP00000339906:R166Q;ENSP00000344297:R174Q;ENSP00000451923:R164Q	ENSP00000344297:R174Q	R	-	2	0	PAX4	127041087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.543000	0.73874	2.661000	0.90470	0.650000	0.86243	CGG	.	.	none		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127253851	C	T	127253851	3	4	11	1	0	0	0	0	1	0	0	0	11481	652	23	1	558	1	PAX4	7	127253851	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4915594	127253851	31884812	228	2513										
FLNC	2318	hgsc.bcm.edu	37	chr7	128489252	128489252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagtgtccattggaggccatGgcctgggtgagtgccctttc	14	11	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:128489252G>A	ENST00000325888.8	+	29	5206	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G1649S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1649					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGAGGCCATGGCCTGGGTGA	0.667																																					p.G1649S		Atlas-SNP	.											FLNC,NS,carcinoma,0,1	FLNC	339	1	0			c.G4945A						scavenged	.						64	65	65					7																	128489252		1930	4115	6045	SO:0001583	missense	2318	exon29			GGCCATGGCCTGG	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4945G>A	7.37:g.128489252G>A	ENSP00000327145:p.Gly1649Ser	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	254	70	0.275591	NM_001127487	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991672	0.93106	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92048	-2.96;-2.96	5.76	5.76	0.90799	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.61703	1.905	0.58432	D	0.99999	P;D	0.56035	0.465;0.974	B;D	0.63381	0.411;0.914	D	0.95051	0.8187	10	0.72032	D	0.01	.	17.4698	0.87642	0.0:0.0:1.0:0.0	.	1649;1649	Q14315-2;Q14315	.;FLNC_HUMAN	S	1649	ENSP00000327145:G1649S;ENSP00000344002:G1649S	ENSP00000327145:G1649S	G	+	1	0	FLNC	128276488	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	5.950000	0.70265	2.713000	0.92767	0.655000	0.94253	GGC	.	.	none		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128489252	G	A	128489252	3	1	11	1	0	0	0	0	1	0	0	0	5935	1348	47	2	5059	2	FLNC	7	128489252	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1235401	128489252	30649411	229	2514										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140246733	140246733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcgtcttttttccacctcatCcaagatctgcaagggtcaga	7	12	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:140246733C>T	ENST00000275884.6	-	12	2461	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	DENND2A_ENST00000496613.1_Missense_Mutation_p.D682N|DENND2A_ENST00000537639.1_Missense_Mutation_p.D682N|DENND2A_ENST00000492720.1_Missense_Mutation_p.D682N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	682	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCACCTCATCCAAGATCTGC	0.532																																					p.D682N		Atlas-SNP	.											DENND2A,colon,carcinoma,+2,1	DENND2A	132	1	0			c.G2044A						scavenged	.						63	65	65					7																	140246733		1959	4176	6135	SO:0001583	missense	27147	exon11			CCTCATCCAAGAT	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2044G>A	7.37:g.140246733C>T	ENSP00000275884:p.Asp682Asn	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491710	0.96339	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.63	5.63	0.86233	DENN (3);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.28694	0.88	0.80722	D	1	D;P	0.89917	1.0;0.942	D;D	0.85130	0.997;0.98	T	0.00978	-1.1493	10	0.35671	T	0.21	-23.4839	19.6692	0.95905	0.0:1.0:0.0:0.0	.	682;682	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	N	682;682;682;29;682	ENSP00000275884:D682N;ENSP00000442245:D682N;ENSP00000419654:D682N;ENSP00000420145:D29N;ENSP00000419464:D682N	ENSP00000275884:D682N	D	-	1	0	DENND2A	139893202	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.657000	0.83745	2.664000	0.90586	0.561000	0.74099	GAT	.	.	none		0.532	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140246733	C	T	140246733	3	4	11	1	0	0	0	0	1	0	0	0	4429	855	30	2	1017	2	DENND2A	7	140246733	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11757481	140246733	18891930	230	2515										
TRPV6	55503	hgsc.bcm.edu	37	chr7	142572885	142572885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtcaccagctccccgaccagCcggatatcgtccttaggggt	11	15	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr7:142572885C>T	ENST00000359396.3	-	9	1400	c.1155G>A	c.(1153-1155)cgG>cgA	p.R385R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	385					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCCCGACCAGCCGGATATCGT	0.562																																					p.R385R		Atlas-SNP	.											TRPV6,colon,carcinoma,-1,1	TRPV6	108	1	0			c.G1155A						scavenged	.						119	108	112					7																	142572885		2203	4300	6503	SO:0001819	synonymous_variant	55503	exon9			GACCAGCCGGATA	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1155G>A	7.37:g.142572885C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	137	2	0.0145985	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																			.	.	none		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		T	142572885	C	T	142572885	2	4	11	1	0	0	0	0	0	0	0	1	16597	726	26	2		2	TRPV6	7	142572885	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2326152	142572885	16565778	231	2516										
AMAC1L2	83650	hgsc.bcm.edu	37	chr8	11188884	11188884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgccctgctacttaaactgcGtggcgacccccttctgggac	10	15	1	0	rs141484171	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:11188884G>A	ENST00000382435.4	+	1	488	c.269G>A	c.(268-270)cGt>cAt	p.R90H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	90	EamA 1.					integral component of membrane (GO:0016021)											CTTAAACTGCGTGGCGACCCC	0.582													g|||	20	0.00399361	0.0053	0.0029	5008	,	,		21791	0.003		0.001	False		,,,				2504	0.0072				p.R90H		Atlas-SNP	.											AMAC1L2,NS,carcinoma,+1,1	.	.	1	0			c.G269A						scavenged	.	A	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	181	189	186		269	-0.7	0.1	8	dbSNP_134	186	4,8596	3.0+/-9.4	0,4,4296	no	missense	SLC35G5	NM_054028.1	29	0,15,6488	AA,AG,GG		0.0465,0.2497,0.1153	possibly-damaging	90/339	11188884	15,12991	2203	4300	6503	SO:0001583	missense	83650	exon1			AACTGCGTGGCGA	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.269G>A	8.37:g.11188884G>A	ENSP00000371872:p.Arg90His	Somatic	244	3	0.0122951		WXS	Illumina HiSeq	Phase_I	239	18	0.0753138	NM_054028	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	g	8.531	0.871012	0.17322	0.002497	4.65E-4	ENSG00000177710	ENST00000382435	T	0.69561	-0.41	0.34	-0.68	0.11346	.	0.209985	0.24298	N	0.039751	T	0.53578	0.1805	N	0.24115	0.695	0.24566	N	0.993947	D	0.55605	0.972	P	0.55871	0.786	T	0.53322	-0.8455	9	0.15952	T	0.53	-1.5188	.	.	.	.	90	Q96KT7	S35G5_HUMAN	H	90	ENSP00000371872:R90H	ENSP00000371872:R90H	R	+	2	0	SLC35G5	11226294	0.002000	0.14202	0.073000	0.20177	0.023000	0.10783	-2.309000	0.01130	-1.230000	0.02561	-1.863000	0.00559	CGT	G|0.999;A|0.001	0.001	strong		0.582	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11188884	G	A	11188884	3	1	11	1	0	0	0	0	1	0	0	0	560	1145	40	1	271	1	AMAC1L2	8	11188884	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10		11188884	135175138	232	2517										
NEFL	4747	hgsc.bcm.edu	37	chr8	24813297	24813297	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttggtcacgtccatctccaCggagatctgcgcgtactgga	11	13	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:24813297C>T	ENST00000221169.5	-	0	1327				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCATCTCCACGGAGATCTGC	0.582																																					p.V245M		Atlas-SNP	.											.	NEFL	47	.	0			c.G733A						PASS	.						47	52	50					8																	24813297		2139	4250	6389			4747	exon1			TCTCCACGGAGAT		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813297C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_006158	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																				.	.	none		0.582	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		T	24813297	C	T	24813297	1	4	11	0	1	0	0	0	0	0	0	0	10315	536	19	1		1	NEFL	8	24813297	RNA	SNP	C	TCGA-FF-8042-01A-11D-2210-10	13624413	24813297	121550725	233	2518										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733101	52733101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtctagaggctgaggaataAgctgattacccacaaatacg	10	8	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:52733101A>G	ENST00000360540.5	-	7	1290	c.884T>C	c.(883-885)cTt>cCt	p.L295P	PCMTD1_ENST00000544451.1_Missense_Mutation_p.L219P|PCMTD1_ENST00000522514.1_Missense_Mutation_p.L295P|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	295						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTGAGGAATAAGCTGATTACC	0.423																																					p.L295P		Atlas-SNP	.											PCMTD1,extremity,malignant_melanoma,-1,3	PCMTD1	73	3	0			c.T884C						scavenged	.						176	171	172					8																	52733101		2203	4300	6503	SO:0001583	missense	115294	exon6			GGAATAAGCTGAT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.884T>C	8.37:g.52733101A>G	ENSP00000353739:p.Leu295Pro	Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	265	4	0.0150943	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944992	0.73672	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.50548	0.74;0.74;0.74	5.97	5.97	0.96955	.	0.063724	0.64402	D	0.000004	T	0.66406	0.2786	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.87578	0.998;0.977;0.851	T	0.68131	-0.5490	10	0.66056	D	0.02	-65.0248	16.4473	0.83942	1.0:0.0:0.0:0.0	.	165;219;295	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	P	295;219;295	ENSP00000353739:L295P;ENSP00000444026:L219P;ENSP00000428099:L295P	ENSP00000353739:L295P	L	-	2	0	PCMTD1	52895654	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	8.424000	0.90267	2.281000	0.76405	0.533000	0.62120	CTT	.	.	none		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		G	52733101	A	G	52733101	3	3	11	1	0	0	0	0	1	0	0	0	11586	72	3	3	193	3	PCMTD1	8	52733101	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	27919804	52733101	93630921	234	2519										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100866137	100866137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attaaaacctgctcggttatAcgtggaagacacatttgtat	8	7	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:100866137A>G	ENST00000358544.2	+	56	10706	c.10595A>G	c.(10594-10596)tAc>tGc	p.Y3532C	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Y3507C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3532					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTCGGTTATACGTGGAAGAC	0.408																																					p.Y3532C	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											VPS13B_ENST00000357162,NS,carcinoma,-1,4	VPS13B	811	4	0			c.A10595G						scavenged	.						115	118	117					8																	100866137		2203	4300	6503	SO:0001583	missense	157680	exon56			GGTTATACGTGGA	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10595A>G	8.37:g.100866137A>G	ENSP00000351346:p.Tyr3532Cys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	106	2	0.0188679	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164745	0.78339	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73363	-0.73;-0.74	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.983;0.997	D	0.86055	0.1528	10	0.72032	D	0.01	.	15.9135	0.79491	1.0:0.0:0.0:0.0	.	3507;3532	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	3507;3532	ENSP00000349685:Y3507C;ENSP00000351346:Y3532C	ENSP00000349685:Y3507C	Y	+	2	0	VPS13B	100935313	1.000000	0.71417	0.270000	0.24601	0.965000	0.64279	8.283000	0.89909	2.153000	0.67306	0.528000	0.53228	TAC	.	.	none		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100866137	A	G	100866137	3	3	11	1	0	0	0	0	1	0	0	0	17187	391	14	2	11007	2	VPS13B	8	100866137	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	48133036	100866137	45497885	235	2520										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101727716	101727716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgccaaagagatccttaaggCgctcatcatccatgtcttct	7	12	4	1	rs201157005		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:101727716C>T	ENST00000318607.5	-	4	1745	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PABPC1_ENST00000519004.1_Missense_Mutation_p.R161H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R174H|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	206	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATCCTTAAGGCGCTCATCATC	0.353																																					p.R206H		Atlas-SNP	.											PABPC1,NS,carcinoma,-1,1	PABPC1	76	1	0			c.G617A						scavenged	.																																			SO:0001583	missense	26986	exon4			TTAAGGCGCTCAT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.617G>A	8.37:g.101727716C>T	ENSP00000313007:p.Arg206His	Somatic	102	2	0.0196078		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	130|130	0.05952380952380952|0.05952380952380952	45|45	0.09146341463414634|0.09146341463414634	8|8	0.022099447513812154|0.022099447513812154	29|29	0.050699300699300696|0.050699300699300696	48|48	0.0633245382585752|0.0633245382585752	C|C	15.89|15.89	2.967520|2.967520	0.53507|0.53507	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|D;D;T	.|0.84370	.|-1.84;-1.84;2.38	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.56097	.|D	.|0.000024	T|T	0.14184|0.14184	0.0343|0.0343	N|N	0.25647|0.25647	0.755|0.755	0.44736|0.44736	D|D	0.997731|0.997731	.|B;B;B	.|0.24920	.|0.005;0.053;0.114	.|B;B;B	.|0.20384	.|0.008;0.029;0.026	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.49607	.|T	.|0.09	.|.	18.734|18.734	0.91748|0.91748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174;206;206	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	T|H	78|206;206;161;174	.|ENSP00000313007:R206H;ENSP00000429594:R161H;ENSP00000429395:R174H	.|ENSP00000313007:R206H	A|R	-|-	1|2	0|0	PABPC1|PABPC1	101796892|101796892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.004000|6.004000	0.70709|0.70709	2.482000|2.482000	0.83794|0.83794	0.585000|0.585000	0.79938|0.79938	GCC|CGC	C|0.940;T|0.060	0.060	strong		0.353	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101727716	C	T	101727716	3	4	11	1	0	0	0	0	1	0	0	0	11363	768	27	1	1337	1	PABPC1	8	101727716	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	861579	101727716	44636306	236	2521										
DPYS	1807	hgsc.bcm.edu	37	chr8	105405212	105405212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgatgatgagtttttgctgAgatagtcctatatttgtgaa	10	4	0	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:105405212A>C	ENST00000351513.2	-	8	1375	c.1243T>G	c.(1243-1245)Tca>Gca	p.S415A	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	415					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTTTGCTGAGATAGTCCTA	0.368																																					p.S415A		Atlas-SNP	.											.	DPYS	107	.	0			c.T1243G						PASS	.						67	71	70					8																	105405212		2203	4300	6503	SO:0001583	missense	1807	exon8			TTGCTGAGATAGT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1243T>G	8.37:g.105405212A>C	ENSP00000276651:p.Ser415Ala	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	20	0.47619	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670756	0.88348	.	.	ENSG00000147647	ENST00000351513	T	0.76578	-1.03	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.75884	2.315	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	D	0.89012	0.3429	10	0.72032	D	0.01	-14.0938	16.5494	0.84464	1.0:0.0:0.0:0.0	.	415	Q14117	DPYS_HUMAN	A	415	ENSP00000276651:S415A	ENSP00000276651:S415A	S	-	1	0	DPYS	105474388	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	8.962000	0.93254	2.299000	0.77371	0.528000	0.53228	TCA	.	.	none		0.368	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		C	105405212	A	C	105405212	3	2	11	1	0	0	0	0	1	0	0	0	4746	304	11	5	324	5	DPYS	8	105405212	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	3677496	105405212	40958810	237	2522										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110451186	110451186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaactcacacaaaacatggCggtgtatgttggaggaaaaa	11	6	1	1	rs202179223		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:110451186C>T	ENST00000378402.5	+	32	3925	c.3821C>T	c.(3820-3822)gCg>gTg	p.A1274V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1274	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAACATGGCGGTGTATGTT	0.333										HNSCC(38;0.096)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17296	0.001		0.0	False		,,,				2504	0.0				p.A1274V		Atlas-SNP	.											PKHD1L1,NS,carcinoma,-1,1	PKHD1L1	522	1	0			c.C3821T						scavenged	.						70	68	69					8																	110451186		1814	4074	5888	SO:0001583	missense	93035	exon32			ACATGGCGGTGTA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3821C>T	8.37:g.110451186C>T	ENSP00000367655:p.Ala1274Val	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.256	-0.617125	0.03663	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	3.78	-3.16	0.05217	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.760370	0.03248	N	0.181446	T	0.56963	0.2021	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37430	-0.9706	10	0.26408	T	0.33	.	4.2987	0.10915	0.3385:0.3215:0.0:0.34	.	1274	Q86WI1	PKHL1_HUMAN	V	1274	ENSP00000367655:A1274V	ENSP00000367655:A1274V	A	+	2	0	PKHD1L1	110520362	0.001000	0.12720	0.083000	0.20561	0.259000	0.26198	-1.072000	0.03434	-0.567000	0.06046	-1.162000	0.01777	GCG	C|1.000;T|0.000	0.000	strong		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110451186	C	T	110451186	3	4	11	1	0	0	0	0	1	0	0	0	11972	768	27	1	3947	1	PKHD1L1	8	110451186	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5045974	110451186	35912836	238	2523										
EXT1	2131	hgsc.bcm.edu	37	chr8	118812014	118812014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acctggtctttaaagaggacGgggtcgagcctcatctgaga	13	9	3	2	rs557560039	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:118812014G>A	ENST00000378204.2	-	11	2984	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	726					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TAAAGAGGACGGGGTCGAGCC	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				G|||	2	0.000399361	0.0	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.002				p.P726P		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	EXT1	98	.	0			c.C2178T						PASS	.						88	84	85					8																	118812014		2203	4300	6503	SO:0001819	synonymous_variant	2131	exon11	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	GAGGACGGGGTCG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2178C>T	8.37:g.118812014G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	188	26	0.138298	NM_000127	B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	CCDS6324.1																																																																																			.	.	none		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		A	118812014	G	A	118812014	2	1	11	1	0	0	0	0	0	0	0	1	5323	1103	39	1		1	EXT1	8	118812014	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	8360828	118812014	27552008	239	2524										
CYP11B2	1585	hgsc.bcm.edu	37	chr8	143994724	143994724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaggtctccttgagggccgcCcgcagcaagggcagctcggt	15	13	1	1	rs61757297	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:143994724C>A	ENST00000323110.2	-	6	1100	c.1098G>T	c.(1096-1098)cgG>cgT	p.R366R		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	366					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGAGGGCCGCCCGCAGCAAGG	0.692									Familial Hyperaldosteronism type I				.|||	5	0.000998403	0.0015	0.0029	5008	,	,		16828	0.001		0.0	False		,,,				2504	0.0				p.R366R		Atlas-SNP	.											CYP11B2,mouth,carcinoma,-2,1	CYP11B2	107	1	0			c.G1098T						scavenged	.						43	46	45					8																	143994724		2203	4300	6503	SO:0001819	synonymous_variant	1585	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	GGCCGCCCGCAGC	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1098G>T	8.37:g.143994724C>A		Somatic	164	3	0.0182927		WXS	Illumina HiSeq	Phase_I	293	11	0.0375427	NM_000498	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																			C|0.474;A|0.526	0.526	strong		0.692	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			A	143994724	C	A	143994724	2	1	11	1	0	0	0	0	0	0	0	1	4146	610	22	4		4	CYP11B2	8	143994724	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	25182710	143994724	2369298	240	2525										
SCRIB	23513	hgsc.bcm.edu	37	chr8	144887138	144887138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgccaacctgcagtgtgcccGcgcggtgagcagcaccgccc	13	18	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr8:144887138G>A	ENST00000320476.3	-	20	2723	c.2717C>T	c.(2716-2718)gCg>gTg	p.A906V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A825V|SCRIB_ENST00000356994.2_Missense_Mutation_p.A906V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	906	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGTGTGCCCGCGCGGTGAGC	0.736																																					p.A906V	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											SCRIB_ENST00000356994,lower_third,carcinoma,+1,2	SCRIB	192	2	0			c.C2717T						PASS	.						8	9	9					8																	144887138		2159	4250	6409	SO:0001583	missense	23513	exon20			GTGCCCGCGCGGT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2717C>T	8.37:g.144887138G>A	ENSP00000322938:p.Ala906Val	Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	32	6	0.1875	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806868	0.50421	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.29655	1.56;1.56;1.56	4.58	4.58	0.56647	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.43964	0.1271	L	0.46670	1.46	0.29848	N	0.828673	D;D	0.89917	1.0;1.0	P;D	0.64506	0.891;0.926	T	0.36163	-0.9759	9	0.59425	D	0.04	.	9.2305	0.37434	0.0:0.1566:0.6819:0.1615	.	906;906	Q14160;Q14160-3	SCRIB_HUMAN;.	V	906;906;825;275	ENSP00000349486:A906V;ENSP00000322938:A906V;ENSP00000366756:A825V	ENSP00000322938:A906V	A	-	2	0	SCRIB	144959126	0.111000	0.22076	0.841000	0.33234	0.040000	0.13550	0.937000	0.28951	2.090000	0.63153	0.442000	0.29010	GCG	.	.	none		0.736	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144887138	G	A	144887138	3	1	11	1	0	0	0	0	1	0	0	0	13937	1087	38	1	2322	1	SCRIB	8	144887138	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	892414	144887138	1476884	241	2526										
DOCK8	81704	hgsc.bcm.edu	37	chr9	289578	289578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgagtggctaatcgtgaaccGgaagtaagttactttttttc	10	6	0	2	rs573137471		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:289578G>A	ENST00000453981.1	+	4	513	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	DOCK8_ENST00000432829.2_Missense_Mutation_p.R66Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.R66Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	134					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCGTGAACCGGAAGTAAGTT	0.328																																					p.R134Q		Atlas-SNP	.											DOCK8_ENST00000453981,NS,carcinoma,0,2	DOCK8	401	2	0			c.G401A						scavenged	.						157	151	153					9																	289578		2203	4300	6503	SO:0001583	missense	81704	exon4			TGAACCGGAAGTA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.401G>A	9.37:g.289578G>A	ENSP00000408464:p.Arg134Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	69	2	0.0289855	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431547	0.43122	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.87	0.19	0.15125	.	0.480653	0.22214	N	0.063054	T	0.40932	0.1137	M	0.76574	2.34	0.42144	D	0.99152	B;B;B	0.33000	0.02;0.393;0.009	B;B;B	0.25884	0.064;0.04;0.064	T	0.22591	-1.0212	10	0.32370	T	0.25	.	10.0607	0.42273	0.3174:0.0:0.6826:0.0	.	66;134;134	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	Q	134;134;66;66;66;66	ENSP00000408464:R134Q;ENSP00000394888:R66Q;ENSP00000417082:R66Q;ENSP00000418318:R66Q;ENSP00000419438:R66Q	ENSP00000287364:R134Q	R	+	2	0	DOCK8	279578	1.000000	0.71417	0.971000	0.41717	0.329000	0.28539	2.496000	0.45346	-0.139000	0.11414	-0.783000	0.03347	CGG	.	.	none		0.328	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	289578	G	A	289578	3	1	11	1	0	0	0	0	1	0	0	0	4693	1116	39	1	415	1	DOCK8	9	289578	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10		289578	140923853	242	2527										
NFIB	4781	hgsc.bcm.edu	37	chr9	14307015	14307015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgcacgtagtatgccaaaaAcaaatcaagctccttaactg	6	11	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:14307015A>C	ENST00000380959.3	-	2	1008	c.535T>G	c.(535-537)Ttt>Gtt	p.F179V	NFIB_ENST00000380934.4_Missense_Mutation_p.F205V|NFIB_ENST00000397581.2_Missense_Mutation_p.F179V|NFIB_ENST00000380921.3_Missense_Mutation_p.F179V|NFIB_ENST00000380953.1_Missense_Mutation_p.F179V|NFIB_ENST00000397579.2_Missense_Mutation_p.F179V|NFIB_ENST00000397575.3_Missense_Mutation_p.F179V	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	179					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TATGCCAAAAACAAATCAAGC	0.468			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																p.F205V	Esophageal Squamous(132;921 1730 14828 40753 46471)	Atlas-SNP	.		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	NFIB	91	.	0			c.T613G						PASS	.						144	131	135					9																	14307015		2203	4300	6503	SO:0001583	missense	4781	exon2			CCAAAAACAAATC	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.535T>G	9.37:g.14307015A>C	ENSP00000370346:p.Phe179Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	140	44	0.314286	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108877	0.56398	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.51325	0.71;0.74;0.76;0.72;0.71;0.74	5.53	5.53	0.82687	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.22421	0.69	0.80722	D	1	P;P;P	0.42409	0.779;0.779;0.779	B;B;B	0.35510	0.191;0.204;0.191	T	0.35475	-0.9787	10	0.87932	D	0	.	15.6677	0.77242	1.0:0.0:0.0:0.0	.	179;179;179	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	V	205;179;179;179;179;179;179	ENSP00000370321:F205V;ENSP00000370346:F179V;ENSP00000370340:F179V;ENSP00000380705:F179V;ENSP00000380711:F179V;ENSP00000380709:F179V	ENSP00000370308:F179V	F	-	1	0	NFIB	14297015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.092000	0.63282	0.482000	0.46254	TTT	.	.	none		0.468	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		C	14307015	A	C	14307015	3	2	11	1	0	0	0	0	1	0	0	0	10371	43	2	5	759	5	NFIB	9	14307015	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	14017437	14307015	126906416	243	2528										
BNC2	54796	hgsc.bcm.edu	37	chr9	16436244	16436244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcatcatcaaactcatcggCggtatcaataatttccttct	4	11	6	0	rs138108118	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:16436244C>T	ENST00000380672.4	-	6	2005	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	BNC2_ENST00000380667.2_Missense_Mutation_p.A583T|BNC2_ENST00000380666.2_Missense_Mutation_p.A650T|BNC2_ENST00000545497.1_Missense_Mutation_p.A555T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACTCATCGGCGGTATCAATA	0.488													C|||	10	0.00199681	0.0	0.0	5008	,	,		20005	0.0		0.0	False		,,,				2504	0.0102				p.A650T		Atlas-SNP	.											BNC2,NS,carcinoma,+1,1	BNC2	166	1	0			c.G1948A						scavenged	.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	134	122	126		1948	6.2	0.9	9	dbSNP_134	126	0,8600		0,0,4300	yes	missense	BNC2	NM_017637.5	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	650/1100	16436244	1,13005	2203	4300	6503	SO:0001583	missense	54796	exon6			CATCGGCGGTATC	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1948G>A	9.37:g.16436244C>T	ENSP00000370047:p.Ala650Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960890	0.53400	2.27E-4	0.0	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.51817	1.39;0.69;1.38;1.41;1.4;1.38	6.17	6.17	0.99709	.	0.046884	0.85682	N	0.000000	T	0.60932	0.2307	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.71674	0.991;0.992;0.998;0.998;0.998;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P;P	0.54706	0.628;0.477;0.759;0.759;0.676;0.477;0.578;0.578;0.578	T	0.51911	-0.8645	10	0.32370	T	0.25	-12.2506	20.8794	0.99867	0.0:1.0:0.0:0.0	.	555;583;650;476;650;607;650;555;415	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	650;43;607;583;555;476;650;650	ENSP00000370047:A650T;ENSP00000392212:A43T;ENSP00000408370:A607T;ENSP00000370042:A583T;ENSP00000444640:A555T;ENSP00000370041:A650T	ENSP00000370041:A650T	A	-	1	0	BNC2	16426244	0.999000	0.42202	0.920000	0.36463	0.415000	0.31203	3.947000	0.56652	2.941000	0.99782	0.655000	0.94253	GCC	C|1.000;T|0.000	0.000	weak		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16436244	C	T	16436244	3	4	11	1	0	0	0	0	1	0	0	0	1475	768	27	1	1359	1	BNC2	9	16436244	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2129229	16436244	124777187	244	2529										
AQP7	364	hgsc.bcm.edu	37	chr9	33385750	33385750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gttcatgccaagggacacccCgatgatgaccacgaggatgc	12	12	1	2	rs114484742		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:33385750C>T	ENST00000537089.1	-	6	682	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	AQP7_ENST00000539936.1_Missense_Mutation_p.G214R|AQP7_ENST00000377425.4_Missense_Mutation_p.G157R|AQP7_ENST00000541274.1_Missense_Mutation_p.R82Q			O14520	AQP7_HUMAN	aquaporin 7	214					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGGGACACCCCGATGATGACC	0.587																																					p.G214R		Atlas-SNP	.											AQP7,colon,carcinoma,0,1	AQP7	58	1	0			c.G640A						scavenged	.						118	109	112					9																	33385750		2203	4300	6503	SO:0001583	missense	364	exon7			ACACCCCGATGAT	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.364G>A	9.37:g.33385750C>T	ENSP00000441619:p.Gly122Arg	Somatic	70	11	0.157143		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_001170	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.12|15.12	2.740362|2.740362	0.49045|0.49045	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	T;T;T;T;T;T;T;T;T|T	0.12569|0.55413	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67|0.52	4.89|4.89	4.89|4.89	0.63831|0.63831	Aquaporin-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45034|0.45034	0.1322|0.1322	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;B;B;B|B	0.41910|0.24317	0.764;0.383;0.26;0.385|0.101	B;B;B;B|B	0.40659|0.13407	0.336;0.288;0.194;0.311|0.009	T|T	0.37502|0.37502	-0.9703|-0.9703	9|8	0.54805|0.44086	T|T	0.06|0.13	-15.8325|-15.8325	15.6188|15.6188	0.76790|0.76790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	213;214;157;214|82	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	R|Q	122;213;82;214;157;122;213;214;150|82	ENSP00000441619:G122R;ENSP00000368821:G213R;ENSP00000412868:G82R;ENSP00000297988:G214R;ENSP00000396111:G157R;ENSP00000410138:G122R;ENSP00000368820:G213R;ENSP00000439534:G214R;ENSP00000368817:G150R|ENSP00000438860:R82Q	ENSP00000297988:G214R|ENSP00000438860:R82Q	G|R	-|-	1|2	0|0	AQP7|AQP7	33375750|33375750	0.994000|0.994000	0.37717|0.37717	0.198000|0.198000	0.23420|0.23420	0.010000|0.010000	0.07245|0.07245	3.614000|3.614000	0.54160|0.54160	2.540000|2.540000	0.85666|0.85666	0.550000|0.550000	0.68814|0.68814	GGG|CGG	.	.	weak		0.587	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385750	C	T	33385750	3	4	11	1	0	0	0	0	1	0	0	0	831	652	23	1	396	1	AQP7	9	33385750	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	16949506	33385750	107827681	245	2530										
OR2S2	56656	hgsc.bcm.edu	37	chr9	35957229	35957229	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgatggggttgagcatcggGgtcaccaccccatagaaaag	13	9	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:35957229G>T	ENST00000341959.2	-	1	922	c.867C>A	c.(865-867)acC>acA	p.T289T		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	289					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCATCGGGGTCACCACCC	0.493																																					p.T289T	Pancreas(172;293 2036 17878 24427 30946)	Atlas-SNP	.											.	OR2S2	46	.	0			c.C867A						PASS	.						98	95	96					9																	35957229		2203	4300	6503	SO:0001819	synonymous_variant	56656	exon1			CATCGGGGTCACC	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.867C>A	9.37:g.35957229G>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_019897	Q2M3L0|Q6IF19|Q96R42	Silent	SNP	ENST00000341959.2	37	CCDS6596.2																																																																																			.	.	none		0.493	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		T	35957229	G	T	35957229	2	4	11	1	0	0	0	0	0	0	0	1	11015	1219	43	4		4	OR2S2	9	35957229	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2571479	35957229	105256202	246	2531										
PAX5	5079	hgsc.bcm.edu	37	chr9	36923482	36923482	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atggctgaatactctgtggtCtgaaagaagaaacagagacg	12	6	2	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:36923482C>T	ENST00000358127.4	-	7	855		c.e7-1		PAX5_ENST00000377847.2_Splice_Site|PAX5_ENST00000377853.2_Splice_Site|PAX5_ENST00000523145.1_Splice_Site|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000522003.1_Splice_Site|PAX5_ENST00000446742.1_Splice_Site|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Splice_Site|PAX5_ENST00000414447.1_Splice_Site|PAX5_ENST00000520281.1_Splice_Site	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(19)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTCTGTGGTCTGAAAGAAGA	0.562			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																.		Atlas-SNP	.		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	.	PAX5	250	.	19	Unknown(19)	haematopoietic_and_lymphoid_tissue(19)	c.781-1G>A						PASS	.						51	55	53					9																	36923482		2203	4300	6503	SO:0001630	splice_region_variant	5079	exon8			TGTGGTCTGAAAG		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.781-1G>A	9.37:g.36923482C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	29	15	0.517241	NM_016734	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003406	0.74932	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	.	.	.	6.03	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1148	0.36750	0.1484:0.7782:0.0:0.0734	.	.	.	.	.	-1	.	.	.	-	.	.	PAX5	36913482	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.657000	0.74402	1.544000	0.49359	0.655000	0.94253	.	.	.	none		0.562	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Intron	T	36923482	C	T	36923482	5	4	11	1	0	0	0	0	0	0	1	0	11482	927	32	2	411	2	PAX5	9	36923482	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	966253	36923482	104289949	247	2532										
CBWD6	644019	hgsc.bcm.edu	37	chr9	69247582	69247582	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaacatagaagccactgcacGtgaaaatatataatattcat	5	7	1	2	rs201502273		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:69247582G>C	ENST00000377457.5	-	5	536		c.e5-1		CBWD6_ENST00000377449.1_Splice_Site|CBWD6_ENST00000382399.4_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						GCCACTGCACGTGAAAATATA	0.289																																					.		Atlas-SNP	.											CBWD6,NS,neuroblastoma,0,1	CBWD6	19	1	0			c.431-1C>G						scavenged	.						19	13	15					9																	69247582		1960	3639	5599	SO:0001630	splice_region_variant	644019	exon6			CTGCACGTGAAAA		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.431-1C>G	9.37:g.69247582G>C		Somatic	52	1	0.0192308		WXS	Illumina HiSeq	Phase_I	54	2	0.037037	NM_001085457		Splice_Site	SNP	ENST00000377457.5	37	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	g	8.385	0.838326	0.16891	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.326	0.37993	0.0:0.7769:0.2231:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD6	68537402	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	5.187000	0.65087	0.454000	0.26884	-1.123000	0.02005	.	G|0.500;C|0.500	0.500	weak		0.289	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822	Intron	C	69247582	G	C	69247582	5	2	11	1	0	0	0	0	0	0	1	0	2716	1159	40	4	801	4	CBWD6	9	69247582	Splice_Site	SNP	G	TCGA-FF-8042-01A-11D-2210-10	32324100	69247582	71965849	248	2533										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73477843	73477843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccatggctttgttggaatggCcacctccttggaactcaatg	10	11	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:73477843C>T	ENST00000377111.2	-	3	686	c.443G>A	c.(442-444)gGc>gAc	p.G148D	TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377110.3_Missense_Mutation_p.G148D|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.G150D|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.G150D|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	148					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTGGAATGGCCACCTCCTTG	0.473																																					p.G148D		Atlas-SNP	.											.	TRPM3	700	.	0			c.G443A						PASS	.						217	202	207					9																	73477843		2203	4300	6503	SO:0001583	missense	80036	exon3			GAATGGCCACCTC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.443G>A	9.37:g.73477843C>T	ENSP00000366315:p.Gly148Asp	Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	212	82	0.386792	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.82|14.82	2.649070|2.649070	0.47362|0.47362	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814	.|T;T;T;T	.|0.04360	.|3.64;3.64;3.64;3.64	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24470|0.24470	0.0593|0.0593	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;B;B	.|0.89917	.|0.991;1.0;0.078;0.065	.|P;D;B;B	.|0.97110	.|0.874;1.0;0.108;0.071	T|T	0.00025|0.00025	-1.2321|-1.2321	5|10	.|0.59425	.|D	.|0.04	-15.6026|-15.6026	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|148;150;148;148	.|Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10	.|TRPM3_HUMAN;.;.;.	T|D	38|148;148;150;150	.|ENSP00000366315:G148D;ENSP00000366314:G148D;ENSP00000350140:G150D;ENSP00000389542:G150D	.|ENSP00000350140:G150D	A|G	-|-	1|2	0|0	TRPM3|TRPM3	72667663|72667663	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	4.564000|4.564000	0.60830|0.60830	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GCC|GGC	.	.	none		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73477843	C	T	73477843	3	4	11	1	0	0	0	0	1	0	0	0	16584	739	26	2	4895	2	TRPM3	9	73477843	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4230261	73477843	67735588	249	2534										
TMC1	117531	hgsc.bcm.edu	37	chr9	75355045	75355045	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attttctcagggaggcaaaaAaatttgtgagtgaaaatgaa	10	3	1	3	rs377607548		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:75355045A>C	ENST00000297784.5	+	9	913	c.373A>C	c.(373-375)Aaa>Caa	p.K125Q	TMC1_ENST00000396237.3_Missense_Mutation_p.K125Q|TMC1_ENST00000340019.3_Missense_Mutation_p.K125Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	125	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGAGGCAAAAAAATTTGTGAG	0.368																																					p.K125Q	Pancreas(75;173 1345 14232 34245 43413)	Atlas-SNP	.											.	TMC1	87	.	0			c.A373C						PASS	.						72	74	73					9																	75355045		2203	4300	6503	SO:0001583	missense	117531	exon9			GCAAAAAAATTTG	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.373A>C	9.37:g.75355045A>C	ENSP00000297784:p.Lys125Gln	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	60	20	0.333333	NM_138691	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.17528	2.27;2.27;2.27	5.62	4.5	0.54988	.	0.378995	0.26079	N	0.026471	T	0.07908	0.0198	N	0.11560	0.145	0.28108	N	0.931139	B;B	0.15930	0.001;0.015	B;B	0.12156	0.001;0.007	T	0.13335	-1.0513	10	0.31617	T	0.26	-29.0715	5.1393	0.14950	0.8494:0.0:0.1506:0.0	.	92;125	A4FUA6;Q8TDI8	.;TMC1_HUMAN	Q	125;125;92;92;92;119;125	ENSP00000297784:K125Q;ENSP00000341433:K125Q;ENSP00000379538:K125Q	ENSP00000297784:K125Q	K	+	1	0	TMC1	74544865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.709000	0.25734	2.133000	0.65898	0.533000	0.62120	AAA	.	.	weak		0.368	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			C	75355045	A	C	75355045	3	2	11	1	0	0	0	0	1	0	0	0	15981	15	1	5	391	5	TMC1	9	75355045	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1877202	75355045	65858386	250	2535										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77473596	77473596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaattttacctgtgaggattTtttgagctgggtatgattgt	11	3	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:77473596T>G	ENST00000360774.1	-	2	339	c.102A>C	c.(100-102)aaA>aaC	p.K34N	RNU6-445P_ENST00000516949.1_RNA|TRPM6_ENST00000449912.2_Missense_Mutation_p.K29N|TRPM6_ENST00000361255.3_Missense_Mutation_p.K29N|TRPM6_ENST00000451710.3_Missense_Mutation_p.K34N|TRPM6_ENST00000376871.3_Missense_Mutation_p.K34N|TRPM6_ENST00000376864.4_Missense_Mutation_p.K34N|TRPM6_ENST00000359047.2_Missense_Mutation_p.K34N|TRPM6_ENST00000376872.3_Missense_Mutation_p.K34N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	34					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						TGTGAGGATTTTTTGAGCTGG	0.313																																					p.K34N		Atlas-SNP	.											.	TRPM6	377	.	0			c.A102C						PASS	.						96	95	95					9																	77473596		2201	4299	6500	SO:0001583	missense	140803	exon2			AGGATTTTTTGAG	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.102A>C	9.37:g.77473596T>G	ENSP00000354006:p.Lys34Asn	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	73	46	0.630137	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714639	0.68730	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.29	-0.0403	0.13872	.	0.107996	0.64402	D	0.000007	T	0.73442	0.3587	M	0.74546	2.27	0.40657	D	0.982093	D;D;D;P;D;P	0.76494	0.999;0.999;0.999;0.599;0.978;0.809	D;D;D;P;P;P	0.83275	0.994;0.994;0.996;0.802;0.71;0.535	T	0.71919	-0.4447	10	0.87932	D	0	.	8.3884	0.32514	0.0:0.3417:0.0:0.6583	.	34;34;34;34;34;29	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	N	34;34;34;34;29;29;33;34;34	ENSP00000354006:K34N;ENSP00000407341:K34N;ENSP00000366068:K34N;ENSP00000366067:K34N;ENSP00000396672:K29N;ENSP00000354962:K29N;ENSP00000366060:K34N;ENSP00000351942:K34N	ENSP00000351942:K34N	K	-	3	2	TRPM6	76663416	1.000000	0.71417	0.992000	0.48379	0.853000	0.48598	1.298000	0.33412	-0.168000	0.10853	0.454000	0.30748	AAA	.	.	none		0.313	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77473596	T	G	77473596	3	3	11	1	0	0	0	0	1	0	0	0	16587	1838	64	5	6118	5	TRPM6	9	77473596	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2118551	77473596	63739835	251	2536										
FOXB2	442425	hgsc.bcm.edu	37	chr9	79634683	79634683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaagatgctgccgctgagcgAcatctacaagttcatcatgg	11	10	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:79634683A>G	ENST00000376708.1	+	1	113	c.113A>G	c.(112-114)gAc>gGc	p.D38G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCGCTGAGCGACATCTACAAG	0.582																																					p.D38G		Atlas-SNP	.											LOC442425,colon,carcinoma,+1,3	FOXB2	71	3	0			c.A113G						scavenged	.						74	65	68					9																	79634683		2203	4300	6503	SO:0001583	missense	442425	exon1			TGAGCGACATCTA		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.113A>G	9.37:g.79634683A>G	ENSP00000365898:p.Asp38Gly	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_001013735		Missense_Mutation	SNP	ENST00000376708.1	37	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358978	0.61403	.	.	ENSG00000204612	ENST00000376708	D	0.95622	-3.76	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	N	0.17800	0.525	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	D	0.93882	0.7172	10	0.35671	T	0.21	.	13.4114	0.60944	1.0:0.0:0.0:0.0	.	38	Q5VYV0	FOXB2_HUMAN	G	38	ENSP00000365898:D38G	ENSP00000365898:D38G	D	+	2	0	FOXB2	78824503	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.099000	0.64554	1.710000	0.51325	0.459000	0.35465	GAC	.	.	none		0.582	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		G	79634683	A	G	79634683	3	3	11	1	0	0	0	0	1	0	0	0	5993	275	10	2	115	2	FOXB2	9	79634683	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	2161087	79634683	61578748	252	2537										
TEX10	54881	hgsc.bcm.edu	37	chr9	103090132	103090132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttatttgctcgtgctgcagCggtatgaatgatatcgataa	10	6	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:103090132C>T	ENST00000374902.4	-	8	1914	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	TEX10_ENST00000535814.1_Missense_Mutation_p.A583T	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	580						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CGTGCTGCAGCGGTATGAATG	0.423																																					p.A583T		Atlas-SNP	.											.	TEX10	99	.	0			c.G1747A						PASS	.						113	102	106					9																	103090132		2203	4300	6503	SO:0001583	missense	54881	exon8			CTGCAGCGGTATG	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1738G>A	9.37:g.103090132C>T	ENSP00000364037:p.Ala580Thr	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	125	51	0.408	NM_001161584	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531474	0.96446	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.985	T	0.71922	-0.4446	9	0.46703	T	0.11	-10.4144	19.6241	0.95671	0.0:1.0:0.0:0.0	.	583;448;580	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	T	583;580;448	.	ENSP00000364037:A580T	A	-	1	0	TEX10	102129953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.064000	0.76721	2.640000	0.89533	0.655000	0.94253	GCT	.	.	none		0.423	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		T	103090132	C	T	103090132	3	4	11	1	0	0	0	0	1	0	0	0	15769	768	27	1	1083	1	TEX10	9	103090132	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	23455449	103090132	38123299	253	2538										
ZNF462	58499	hgsc.bcm.edu	37	chr9	109689973	109689973	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aatctggagcgggacaaaacGaaactccgagcactcaaatg	10	10	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:109689973G>T	ENST00000277225.5	+	3	4069	c.3780G>T	c.(3778-3780)acG>acT	p.T1260T	ZNF462_ENST00000457913.1_Silent_p.T1260T|ZNF462_ENST00000441147.2_Silent_p.T105T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1260					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1260T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGGACAAAACGAAACTCCGAG	0.542																																					p.T1260T		Atlas-SNP	.											ZNF462,rectum,carcinoma,0,1	ZNF462	322	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G3780T						PASS	.						154	162	159					9																	109689973		2203	4300	6503	SO:0001819	synonymous_variant	58499	exon3			CAAAACGAAACTC	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3780G>T	9.37:g.109689973G>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	71	28	0.394366	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																			.	.	none		0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		T	109689973	G	T	109689973	2	4	11	1	0	0	0	0	0	0	0	1	17923	1045	37	4		4	ZNF462	9	109689973	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	6599841	109689973	31523458	254	2539										
MUSK	4593	hgsc.bcm.edu	37	chr9	113562830	113562830	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaacgtaagtttgttcaccgAgatttagccaccaggaactg	10	9	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:113562830A>G	ENST00000374448.4	+	15	2306	c.2172A>G	c.(2170-2172)cgA>cgG	p.R724R	MUSK_ENST00000416899.2_Silent_p.R716R|MUSK_ENST00000189978.5_Silent_p.R724R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGTTCACCGAGATTTAGCCA	0.557																																					p.R724R		Atlas-SNP	.											MUSK,right_upper_lobe,carcinoma,+2,1	MUSK	112	1	0			c.A2172G						scavenged	.						142	143	142					9																	113562830		1978	4157	6135	SO:0001819	synonymous_variant	4593	exon14			TCACCGAGATTTA	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2172A>G	9.37:g.113562830A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_005592	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	CCDS48005.1																																																																																			.	.	none		0.557	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	113562830	A	G	113562830	2	3	11	1	0	0	0	0	0	0	0	1	9989	291	11	3		3	MUSK	9	113562830	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	3872857	113562830	27650601	255	2540										
RC3H2	54542	hgsc.bcm.edu	37	chr9	125620209	125620209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaacctttcttacatccgcaCgaaagtctacactgaacaga	5	12	2	2	rs368828068		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:125620209C>T	ENST00000373670.1	-	12	3047	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	RC3H2_ENST00000357244.2_Missense_Mutation_p.R816H|RC3H2_ENST00000423239.2_Missense_Mutation_p.R816H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	816					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TACATCCGCACGAAAGTCTAC	0.428																																					p.R816H		Atlas-SNP	.											RC3H2_ENST00000423239,NS,carcinoma,-1,2	RC3H2	150	2	0			c.G2447A						scavenged	.						136	137	137					9																	125620209		1992	4159	6151	SO:0001583	missense	54542	exon13			TCCGCACGAAAGT	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2447G>A	9.37:g.125620209C>T	ENSP00000362774:p.Arg816His	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	160	4	0.025	NM_018835	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	8.812	0.935409	0.18206	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.44482	0.92;0.92;0.93	5.79	5.79	0.91817	.	0.393209	0.27759	N	0.017980	T	0.18635	0.0447	N	0.03608	-0.345	0.80722	D	1	B;B	0.33904	0.431;0.263	B;B	0.29862	0.108;0.07	T	0.19778	-1.0295	10	0.13108	T	0.6	-27.9101	12.544	0.56188	0.0:0.9211:0.0:0.0789	.	816;816	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	816;816;687;816	ENSP00000362774:R816H;ENSP00000349783:R816H;ENSP00000411767:R816H	ENSP00000349783:R816H	R	-	2	0	RC3H2	124660030	1.000000	0.71417	0.966000	0.40874	0.943000	0.58893	2.774000	0.47694	2.733000	0.93635	0.655000	0.94253	CGT	.	.	alt		0.428	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		T	125620209	C	T	125620209	3	4	11	1	0	0	0	0	1	0	0	0	13167	536	19	1	1242	1	RC3H2	9	125620209	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	12057379	125620209	15593222	256	2541										
GARNL3	84253	hgsc.bcm.edu	37	chr9	130155397	130155397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttggaaagtgcttctacttCcgaagccaaccctgaggggc	11	12	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:130155397C>T	ENST00000373387.4	+	28	3258	c.2906C>T	c.(2905-2907)tCc>tTc	p.S969F	GARNL3_ENST00000435213.2_Missense_Mutation_p.S947F|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	969					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTTCTACTTCCGAAGCCAAC	0.562																																					p.S969F		Atlas-SNP	.											GARNL3,NS,carcinoma,-1,1	GARNL3	83	1	0			c.C2906T						scavenged	.						71	76	74					9																	130155397		2203	4300	6503	SO:0001583	missense	84253	exon28			CTACTTCCGAAGC	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2906C>T	9.37:g.130155397C>T	ENSP00000362485:p.Ser969Phe	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	151	2	0.013245	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441485	0.12164	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87650	-2.28;-2.28	5.73	2.83	0.33086	.	0.378978	0.27917	N	0.017328	T	0.71290	0.3322	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54497	-0.8285	9	.	.	.	.	5.312	0.15835	0.0:0.5767:0.1552:0.2681	.	969;947	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	F	947;969	ENSP00000396205:S947F;ENSP00000362485:S969F	.	S	+	2	0	GARNL3	129195218	0.000000	0.05858	0.002000	0.10522	0.264000	0.26372	0.738000	0.26158	0.859000	0.35456	0.655000	0.94253	TCC	.	.	none		0.562	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		T	130155397	C	T	130155397	3	4	11	1	0	0	0	0	1	0	0	0	6241	855	30	2	3016	2	GARNL3	9	130155397	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4535188	130155397	11058034	257	2542										
CACNA1B	774	hgsc.bcm.edu	37	chr9	140918171	140918185	+	In_Frame_Del	DEL	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagcctgctcacgaggctgtGgagaaggagaccacggagaa					rs145816559|rs11137342|rs370787788|rs551405755	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr9:140918171_140918185delGGAGAAGGAGACCAC	ENST00000371372.1	+	19	3121_3135	c.2976_2990delGGAGAAGGAGACCAC	c.(2974-2991)gtggagaaggagaccacg>gtg	p.EKETT993del	CACNA1B_ENST00000371357.1_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000277549.5_In_Frame_Del_p.EKETT185del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.EKETT993del|CACNA1B_ENST00000371367.5_5'UTR|CACNA1B_ENST00000371355.4_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_In_Frame_Del_p.EKETT993del	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	993					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.T996_E1000delTTEKE(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGAGGCTGTGGAGAAGGAGACCACGGAGAAGGAG	0.735														1990	0.397364	0.6225	0.1282	5008	,	,		9031	0.6349		0.1521	False		,,,				2504	0.2914				p.992_997del		Atlas-Indel	.											.	CACNA1B	266	.	1	Deletion - In frame(1)	breast(1)	c.2975_2989del						PASS	.			1091,1197		364,363,417						-1.3	0		dbSNP_134	8	691,4399		126,439,1980	no	coding	CACNA1B	NM_000718.3		490,802,2397	A1A1,A1R,RR		13.5756,47.6836,24.1529				1782,5596				SO:0001651	inframe_deletion	774	exon19			.	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2976_2990delGGAGAAGGAGACCAC	9.37:g.140918171_140918185delGGAGAAGGAGACCAC	ENSP00000360423:p.Glu993_Thr997del	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	53	14	0.264151	NM_001243812	B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	CCDS59522.1																																																																																			GGAGAAGGAGACCAC|0.621;-|0.379	0.379	strong		0.735	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		-	140918185	GGAGAAGGAGACCAC	-	140918171	7	5	11	1	0	1	0	1	0	0	0	0	2539	1335	47	0	3050	0	CACNA1B	9	140918171	In_Frame_Del	DEL	GGAGAAGGAGACCAC	TCGA-FF-8042-01A-11D-2210-10	10762774	140918171	295260	258	2543										
FAM171A1	221061	hgsc.bcm.edu	37	chr10	15255310	15255310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tagttctgctgcagagacaaAgcatctccccttcccttccg	7	15	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:15255310A>G	ENST00000378116.4	-	8	2283	c.2277T>C	c.(2275-2277)gcT>gcC	p.A759A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	759						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCAGAGACAAAGCATCTCCCC	0.547																																					p.A759A		Atlas-SNP	.											FAM171A1,caecum,carcinoma,-1,1	FAM171A1	252	1	0			c.T2277C						scavenged	.						123	84	97					10																	15255310		2203	4300	6503	SO:0001819	synonymous_variant	221061	exon8			AGACAAAGCATCT	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2277T>C	10.37:g.15255310A>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	203	4	0.0197044	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	CCDS31154.1																																																																																			.	.	none		0.547	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		G	15255310	A	G	15255310	2	3	11	1	0	0	0	0	0	0	0	1	5490	59	3	3		3	FAM171A1	10	15255310	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10		15255310	120279437	259	2544										
TRDMT1	1787	hgsc.bcm.edu	37	chr10	17201224	17201224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtagccttgaatttggaatgCcaagctgtaagcaaagcaaa	10	7	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:17201224C>T	ENST00000377799.3	-	7	511	c.464G>A	c.(463-465)gGc>gAc	p.G155D	TRDMT1_ENST00000377766.5_Nonsense_Mutation_p.W83*|TRDMT1_ENST00000457442.2_Missense_Mutation_p.G74D|TRDMT1_ENST00000351358.4_Missense_Mutation_p.G109D|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.G131D	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	155	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.G155V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	ATTTGGAATGCCAAGCTGTAA	0.363																																					p.G155D		Atlas-SNP	.											TRDMT1,colon,carcinoma,-1,4	TRDMT1	46	4	1	Substitution - Missense(1)	ovary(1)	c.G464A						scavenged	.						59	62	61					10																	17201224		2203	4300	6503	SO:0001583	missense	1787	exon7			GGAATGCCAAGCT	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.464G>A	10.37:g.17201224C>T	ENSP00000367030:p.Gly155Asp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.80|18.80|18.80	3.701076|3.701076|3.701076	0.68501|0.68501|0.68501	.|.|.	.|.|.	ENSG00000107614|ENSG00000107614|ENSG00000107614	ENST00000436968|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000525762|ENST00000377766;ENST00000313936	.|T;T;T;T;T|.	.|0.75260|.	.|-0.92;-0.92;-0.92;-0.92;-0.92|.	5.64|5.64|5.64	4.74|4.74|4.74	0.60224|0.60224|0.60224	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.80633|0.80633|.	0.4660|0.4660|.	M|M|M	0.89601|0.89601|0.89601	3.045|3.045|3.045	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;0.999;1.0;0.999;0.999|.	.|D;D;D;D;D;D|.	.|0.97110|.	.|1.0;0.999;0.999;0.998;0.999;0.999|.	D|D|.	0.84294|0.84294|.	0.0501|0.0501|.	5|10|.	.|0.66056|.	.|D|.	.|0.02|.	-12.4056|-12.4056|-12.4056	14.5118|14.5118|14.5118	0.67791|0.67791|0.67791	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.|.	.|84;74;155;109;131;155|.	.|B7Z1Y7;E7EMI8;Q6ICS7;O14717-3;O14717-2;O14717|.	.|.;.;.;.;.;TRDMT_HUMAN|.	T|D|X	63|155;131;109;74;113|83;88	.|ENSP00000367030:G155D;ENSP00000409354:G131D;ENSP00000324328:G109D;ENSP00000412256:G74D;ENSP00000431476:G113D|.	.|ENSP00000324328:G109D|.	A|G|W	-|-|-	1|2|3	0|0|0	TRDMT1|TRDMT1|TRDMT1	17241230|17241230|17241230	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	7.058000|7.058000|7.058000	0.76676|0.76676|0.76676	1.373000|1.373000|1.373000	0.46208|0.46208|0.46208	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|GGC|TGG	.	.	none		0.363	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		T	17201224	C	T	17201224	3	4	11	1	0	0	0	0	1	0	0	0	16464	739	26	2	731	2	TRDMT1	10	17201224	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1945914	17201224	118333523	260	2545										
NEBL	10529	hgsc.bcm.edu	37	chr10	21120221	21120221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttaatttcattttctaagtcCttcttgtattgtttctaaaa	3	6	4	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:21120221C>T	ENST00000377122.4	-	16	1971	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	525					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCTAAGTCCTTCTTGTATT	0.363																																					p.K525K		Atlas-SNP	.											NEBL,NS,carcinoma,0,1	NEBL	199	1	0			c.G1575A						scavenged	.						130	118	122					10																	21120221		2203	4300	6503	SO:0001819	synonymous_variant	10529	exon16			TAAGTCCTTCTTG	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1575G>A	10.37:g.21120221C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	59	2	0.0338983	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																			.	.	none		0.363	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21120221	C	T	21120221	2	4	11	1	0	0	0	0	0	0	0	1	10303	680	24	2		2	NEBL	10	21120221	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3918997	21120221	114414526	261	2546										
MPP7	143098	hgsc.bcm.edu	37	chr10	28412969	28412969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttacagcttaccaaaatctgTattatttcctcaggcctttt	4	10	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:28412969T>C	ENST00000375732.1	-	8	865	c.606A>G	c.(604-606)atA>atG	p.I202M	MPP7_ENST00000375719.3_Missense_Mutation_p.I202M|MPP7_ENST00000540098.1_Missense_Mutation_p.I202M|MPP7_ENST00000445954.2_Missense_Mutation_p.I77M|MPP7_ENST00000337532.5_Missense_Mutation_p.I202M|MPP7_ENST00000481244.1_5'Flank			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	202	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCAAAATCTGTATTATTTCCT	0.343																																					p.I202M		Atlas-SNP	.											.	MPP7	60	.	0			c.A606G						PASS	.						85	88	87					10																	28412969		2203	4300	6503	SO:0001583	missense	143098	exon10			AATCTGTATTATT	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.606A>G	10.37:g.28412969T>C	ENSP00000364884:p.Ile202Met	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477566	0.63849	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.58	1.86	0.25419	PDZ/DHR/GLGF (4);	0.039978	0.85682	D	0.000000	T	0.44746	0.1308	M	0.69358	2.11	0.58432	D	0.999999	D	0.58620	0.983	D	0.64321	0.924	T	0.17228	-1.0376	10	0.32370	T	0.25	.	8.3462	0.32275	0.1678:0.0:0.1068:0.7254	.	202	Q5T2T1	MPP7_HUMAN	M	202;202;202;202;77	ENSP00000364884:I202M;ENSP00000337907:I202M;ENSP00000438693:I202M;ENSP00000364871:I202M;ENSP00000405397:I77M	ENSP00000337907:I202M	I	-	3	3	MPP7	28452975	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.284000	0.33249	0.117000	0.18138	0.454000	0.30748	ATA	.	.	none		0.343	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		C	28412969	T	C	28412969	3	2	11	1	0	0	0	0	1	0	0	0	9739	1628	57	2	1164	2	MPP7	10	28412969	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	7292748	28412969	107121778	262	2547										
C10orf68	79741	hgsc.bcm.edu	37	chr10	33135314	33135314	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aattctatagagactgataaAgaactcttaaaagatgctat	6	5	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:33135314A>G	ENST00000375030.2	+	18	1839	c.1221A>G	c.(1219-1221)aaA>aaG	p.K407K	C10orf68_ENST00000375025.4_Silent_p.K512K|C10orf68_ENST00000375028.3_Silent_p.K452K			Q9H943	CJ068_HUMAN		448										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAAGAACTCTTAA	0.289																																					p.K448K		Atlas-SNP	.											C10orf68,NS,carcinoma,0,1	C10orf68	75	1	0			c.A1344G						scavenged	.						40	45	43					10																	33135314		2197	4274	6471	SO:0001819	synonymous_variant	79741	exon17			TGATAAAGAACTC																												ENST00000375030.2:c.1221A>G	10.37:g.33135314A>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	179	2	0.0111732	NM_024688	B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37																																																																																				.	.	none		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			G	33135314	A	G	33135314	2	3	11	1	0	0	0	0	0	0	0	1	1613	69	3	3		3	C10orf68	10	33135314	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	4722345	33135314	102399433	263	2548										
GPRIN2	9721	hgsc.bcm.edu	37	chr10	46998893	46998893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggcagccatgagctccagcCgccccgagccgggtccctgg	14	17	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:46998893C>T	ENST00000374317.1	+	3	286	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R5C	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	5			R -> H (in dbSNP:rs3127817). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9628581}.							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGCTCCAGCCGCCCCGAGCC	0.642																																					p.R5C		Atlas-SNP	.											GPRIN2,NS,carcinoma,-1,1	GPRIN2	94	1	0			c.C13T						scavenged	.						50	69	62					10																	46998893		2178	4262	6440	SO:0001583	missense	9721	exon3			TCCAGCCGCCCCG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.13C>T	10.37:g.46998893C>T	ENSP00000363436:p.Arg5Cys	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_014696	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591664	0.46214	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.33	3.38	0.38709	.	1.094990	0.07068	N	0.834916	T	0.07413	0.0187	L	0.51422	1.61	0.29188	N	0.876053	D	0.67145	0.996	P	0.47705	0.555	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.4433	8.1416	0.31086	0.0:0.7506:0.1592:0.0902	.	5	O60269	GRIN2_HUMAN	C	5	ENSP00000363436:R5C;ENSP00000363433:R5C	ENSP00000363433:R5C	R	+	1	0	GPRIN2	46418899	0.722000	0.28017	0.924000	0.36721	0.739000	0.42172	1.074000	0.30703	1.391000	0.46566	0.655000	0.94253	CGC	.	.	none		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	46998893	C	T	46998893	3	4	11	1	0	0	0	0	1	0	0	0	6730	652	23	1	15	1	GPRIN2	10	46998893	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	13863579	46998893	88535854	264	2549										
RBP3	5949	hgsc.bcm.edu	37	chr10	48389465	48389465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggtccatgatgaggtgctcCgtgtcctgtagcggctccca	13	12	0	2	rs532562665		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:48389465C>T	ENST00000224600.4	-	1	1526	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	471	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGAGGTGCTCCGTGTCCTGTA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.001				p.T471T		Atlas-SNP	.											RBP3,NS,carcinoma,-1,2	RBP3	152	2	0			c.G1413A						scavenged	.						46	45	45					10																	48389465		2203	4300	6503	SO:0001819	synonymous_variant	5949	exon1			GTGCTCCGTGTCC	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1413G>A	10.37:g.48389465C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_002900	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	CCDS7218.1																																																																																			.	.	none		0.647	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		T	48389465	C	T	48389465	2	4	11	1	0	0	0	0	0	0	0	1	13157	639	23	1		1	RBP3	10	48389465	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1390572	48389465	87145282	265	2550										
ANK3	288	hgsc.bcm.edu	37	chr10	61845008	61845008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccactgagcaggcgaagtgCcccctgagagaacaacagca	11	14	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:61845008C>T	ENST00000280772.2	-	31	3943	c.3752G>A	c.(3751-3753)gGc>gAc	p.G1251D	ANK3_ENST00000503366.1_Missense_Mutation_p.G1252D|ANK3_ENST00000373827.2_Missense_Mutation_p.G1245D|ANK3_ENST00000355288.2_Missense_Mutation_p.G385D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1251	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCGAAGTGCCCCCTGAGAG	0.428																																					p.G1252D		Atlas-SNP	.											.	ANK3	703	.	0			c.G3755A						PASS	.						64	61	62					10																	61845008		2203	4300	6503	SO:0001583	missense	288	exon32			GAAGTGCCCCCTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3752G>A	10.37:g.61845008C>T	ENSP00000280772:p.Gly1251Asp	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_001204404	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383214	0.95967	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	6.17	6.17	0.99709	.	0.000000	0.42821	D	0.000647	T	0.66733	0.2819	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D	0.97110	0.98;1.0;0.999;1.0;0.999;0.982;0.999	T	0.70949	-0.4733	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1252;385;784;1245;1251;486;385	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	D	1251;1245;385;385;1252;1231;486;886;886;384;784	ENSP00000280772:G1251D;ENSP00000362933:G1245D;ENSP00000347436:G385D;ENSP00000425236:G1252D	ENSP00000280772:G1251D	G	-	2	0	ANK3	61515014	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	GGC	.	.	none		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61845008	C	T	61845008	3	4	11	1	0	0	0	0	1	0	0	0	622	739	26	2	9746	2	ANK3	10	61845008	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	13455543	61845008	73689739	266	2551										
UNC5B	219699	hgsc.bcm.edu	37	chr10	73053316	73053316	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agctcaagacccaggcccacCagggccactgggaggtgagg	15	13	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:73053316C>T	ENST00000335350.6	+	12	2343	c.1927C>T	c.(1927-1929)Cag>Tag	p.Q643*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.Q632*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	643	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAGGCCCACCAGGGCCACTG	0.642																																					p.Q643X		Atlas-SNP	.											.	UNC5B	123	.	0			c.C1927T						PASS	.						58	59	59					10																	73053316		2203	4300	6503	SO:0001587	stop_gained	219699	exon12			GCCCACCAGGGCC	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1927C>T	10.37:g.73053316C>T	ENSP00000334329:p.Gln643*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	45	23	0.511111	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Nonsense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	42	9.790481	0.99264	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	.	.	.	4.76	3.84	0.44239	.	0.168672	0.43416	D	0.000573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-19.7677	12.3129	0.54938	0.0:0.9181:0.0:0.0819	.	.	.	.	X	643;632	.	ENSP00000334329:Q643X	Q	+	1	0	UNC5B	72723322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.041000	0.57339	2.208000	0.71279	0.462000	0.41574	CAG	.	.	none		0.642	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73053316	C	T	73053316	4	4	11	1	0	0	0	0	0	1	0	0	16989	595	21	2	1973	2	UNC5B	10	73053316	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11208308	73053316	62481431	267	2552										
ANXA7	310	hgsc.bcm.edu	37	chr10	75139679	75139679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tacatatccggaaaactcacGgctcacactgcttaacaagt	6	12	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:75139679G>A	ENST00000372921.5	-	11	1179	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Missense_Mutation_p.R245C	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	397					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.R397C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GAAAACTCACGGCTCACACTG	0.338																																					p.R397C		Atlas-SNP	.											ANXA7,colon,carcinoma,0,1	ANXA7	50	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1189T						scavenged	.						164	175	171					10																	75139679		2203	4300	6503	SO:0001583	missense	310	exon12			ACTCACGGCTCAC	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1123C>T	10.37:g.75139679G>A	ENSP00000362012:p.Arg375Cys	Somatic	216	1	0.00462963		WXS	Illumina HiSeq	Phase_I	197	4	0.0203046	NM_004034	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807160	0.70797	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.03441	3.93;3.93;3.93	5.65	4.73	0.59995	Annexin repeat, conserved site (1);	0.159895	0.43416	D	0.000562	T	0.19886	0.0478	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74023	0.982;0.953;0.969;0.982	T	0.00899	-1.1522	10	0.87932	D	0	.	12.1681	0.54141	0.0:0.0:0.8292:0.1708	.	375;302;375;397	Q53HM8;B4DWU2;P20073-2;P20073	.;.;.;ANXA7_HUMAN	C	375;397;245	ENSP00000362012:R375C;ENSP00000362010:R397C;ENSP00000442864:R245C	ENSP00000362010:R397C	R	-	1	0	ANXA7	74809685	0.993000	0.37304	0.423000	0.26634	0.980000	0.70556	2.090000	0.41682	1.483000	0.48342	0.655000	0.94253	CGT	.	.	none		0.338	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		A	75139679	G	A	75139679	3	1	11	1	0	0	0	0	1	0	0	0	723	1116	39	1	289	1	ANXA7	10	75139679	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2086363	75139679	60395068	268	2553										
LRIT2	340745	hgsc.bcm.edu	37	chr10	85981799	85981799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttggactgcggggctgcaggGgtgcagctgggggctttcct	19	9	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:85981799G>A	ENST00000372113.4	-	3	1535	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	LRIT2_ENST00000538192.1_Silent_p.T520T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	510			T -> P (in dbSNP:rs6585847).			integral component of membrane (GO:0016021)		p.T510T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGCTGCAGGGGTGCAGCTGG	0.627																																					p.T510T		Atlas-SNP	.											LRIT2,colon,carcinoma,-2,3	LRIT2	81	3	1	Substitution - coding silent(1)	ovary(1)	c.C1530T						scavenged	.						56	63	61					10																	85981799		2201	4299	6500	SO:0001819	synonymous_variant	340745	exon3			TGCAGGGGTGCAG		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1530C>T	10.37:g.85981799G>A		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	94	2	0.0212766	NM_001017924	B7ZME6	Silent	SNP	ENST00000372113.4	37	CCDS31234.1																																																																																			.	.	none		0.627	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		A	85981799	G	A	85981799	2	1	11	1	0	0	0	0	0	0	0	1	8948	1219	43	2		2	LRIT2	10	85981799	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	10842120	85981799	49552948	269	2554										
GRID1	2894	hgsc.bcm.edu	37	chr10	87615870	87615870	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgaggctcgccatgctatgCcacttccggtcctccagctt	9	15	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:87615870C>T	ENST00000327946.7	-	7	1114	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	343					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCATGCTATGCCACTTCCGGT	0.522										Multiple Myeloma(13;0.14)																											p.W343X		Atlas-SNP	.											.	GRID1	204	.	0			c.G1029A						PASS	.						137	112	120					10																	87615870		2203	4300	6503	SO:0001587	stop_gained	2894	exon7			GCTATGCCACTTC	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1029G>A	10.37:g.87615870C>T	ENSP00000330148:p.Trp343*	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	138	57	0.413043	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Nonsense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	38	7.285199	0.98186	.	.	ENSG00000182771	ENST00000327946	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.0162	0.89241	0.0:1.0:0.0:0.0	.	.	.	.	X	343	.	ENSP00000330148:W343X	W	-	3	0	GRID1	87605850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.811000	0.86092	2.501000	0.84356	0.655000	0.94253	TGG	.	.	none		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87615870	C	T	87615870	4	4	11	1	0	0	0	0	0	1	0	0	6771	740	26	2	2040	2	GRID1	10	87615870	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1634071	87615870	47918877	270	2555										
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96163177	96163177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgcctgggcttttctgacatTcacttcaactctcgcaacac	6	15	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:96163177T>C	ENST00000225235.4	+	1	917	c.807T>C	c.(805-807)atT>atC	p.I269I		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	269							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTGACATTCACTTCAACT	0.736																																					p.I269I		Atlas-SNP	.											.	TBC1D12	51	.	0			c.T807C						PASS	.						8	11	10					10																	96163177		1757	3890	5647	SO:0001819	synonymous_variant	23232	exon1			TGACATTCACTTC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.807T>C	10.37:g.96163177T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	119	6	0.0504202	NM_015188	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			.	.	none		0.736	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			C	96163177	T	C	96163177	2	2	11	1	0	0	0	0	0	0	0	1	15598	1771	62	2		2	TBC1D12	10	96163177	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	8547307	96163177	39371570	271	2556										
UBTD1	80019	hgsc.bcm.edu	37	chr10	99327781	99327781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctgggacacagcgcctgccTtcgagggccgcaaggagatc	14	13	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:99327781T>C	ENST00000370664.3	+	2	517	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	61										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		AGCGCCTGCCTTCGAGGGCCG	0.627																																					p.F61L	Pancreas(100;169 2668 32720)	Atlas-SNP	.											UBTD1,colon,carcinoma,-2,1	UBTD1	19	1	0			c.T181C						scavenged	.						95	89	91					10																	99327781		2203	4300	6503	SO:0001583	missense	80019	exon2			CCTGCCTTCGAGG	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.181T>C	10.37:g.99327781T>C	ENSP00000359698:p.Phe61Leu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_024954	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314173	0.81358	.	.	ENSG00000165886	ENST00000370664	T	0.46451	0.87	5.7	5.7	0.88788	.	0.139837	0.64402	D	0.000003	T	0.62756	0.2454	M	0.79123	2.44	0.80722	D	1	D	0.54207	0.965	P	0.59171	0.853	T	0.66945	-0.5795	10	0.66056	D	0.02	-12.3524	15.9583	0.79906	0.0:0.0:0.0:1.0	.	61	Q9HAC8	UBTD1_HUMAN	L	61	ENSP00000359698:F61L	ENSP00000359698:F61L	F	+	1	0	UBTD1	99317771	1.000000	0.71417	0.825000	0.32803	0.019000	0.09904	8.040000	0.89188	2.313000	0.78055	0.519000	0.50382	TTC	.	.	none		0.627	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		C	99327781	T	C	99327781	3	2	11	1	0	0	0	0	1	0	0	0	16904	1609	56	3	187	3	UBTD1	10	99327781	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	3164604	99327781	36206966	272	2557										
SORCS3	22986	hgsc.bcm.edu	37	chr10	106907486	106907486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acacgcgtgggatttacttcActctggccatggagaacatc	10	11	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:106907486A>C	ENST00000369701.3	+	9	1641	c.1414A>C	c.(1414-1416)Act>Cct	p.T472P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	472					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GATTTACTTCACTCTGGCCAT	0.463																																					p.T472P	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											.	SORCS3	282	.	0			c.A1414C						PASS	.						235	188	204					10																	106907486		2203	4299	6502	SO:0001583	missense	22986	exon9			TACTTCACTCTGG	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1414A>C	10.37:g.106907486A>C	ENSP00000358715:p.Thr472Pro	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	196	86	0.438776	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698172	0.88830	.	.	ENSG00000156395	ENST00000369701	T	0.26067	1.76	5.42	5.42	0.78866	VPS10 (1);	0.051975	0.85682	D	0.000000	T	0.52741	0.1753	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.58205	-0.7677	10	0.87932	D	0	.	15.7709	0.78167	1.0:0.0:0.0:0.0	.	472	Q9UPU3	SORC3_HUMAN	P	472	ENSP00000358715:T472P	ENSP00000358715:T472P	T	+	1	0	SORCS3	106897476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.287000	0.95975	2.194000	0.70268	0.528000	0.53228	ACT	.	.	none		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		C	106907486	A	C	106907486	3	2	11	1	0	0	0	0	1	0	0	0	14932	159	6	5	1448	5	SORCS3	10	106907486	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	7579705	106907486	28627261	273	2558										
KCNK18	338567	hgsc.bcm.edu	37	chr10	118969290	118969290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgctgaagagcttccaggccCcaaacttggcacatgtcctt	9	13	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:118969290C>T	ENST00000334549.1	+	3	635	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	212					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTTCCAGGCCCCAAACTTGGC	0.527																																					p.P212L		Atlas-SNP	.											.	KCNK18	70	.	0			c.C635T						PASS	.						74	75	75					10																	118969290		2203	4300	6503	SO:0001583	missense	338567	exon3			CAGGCCCCAAACT	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.635C>T	10.37:g.118969290C>T	ENSP00000334650:p.Pro212Leu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	75	31	0.413333	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	7.395	0.631626	0.14322	.	.	ENSG00000186795	ENST00000334549	T	0.14022	2.54	4.72	1.75	0.24633	.	0.572860	0.19090	N	0.122981	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	0.999999	B	0.26318	0.146	B	0.18871	0.023	T	0.31447	-0.9943	10	0.27082	T	0.32	.	1.6533	0.02776	0.2389:0.4293:0.1165:0.2153	.	212	Q7Z418	KCNKI_HUMAN	L	212	ENSP00000334650:P212L	ENSP00000334650:P212L	P	+	2	0	KCNK18	118959280	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	0.311000	0.19380	0.258000	0.21686	0.655000	0.94253	CCC	.	.	none		0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		T	118969290	C	T	118969290	3	4	11	1	0	0	0	0	1	0	0	0	8065	623	22	2	645	2	KCNK18	10	118969290	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	12061804	118969290	16565457	274	2559										
JAKMIP3	282973	hgsc.bcm.edu	37	chr10	133954074	133954151	+	Splice_Site	DEL	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccgtgcaccccggacgatgaCttggaggaggtaacgagggt					rs111390655|rs376494575|rs186558312|rs377397710|rs9733324|rs373132662|rs375807579|rs531085140|rs370170942|rs565380893	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr10:133954074_133954151delCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	ENST00000298622.4	+	9	1602_1611	c.1464_1473delCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	c.(1462-1473)gacttggaggag>ga	p.DLEE488del		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	488						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGACGATGACTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAG	0.644														1120	0.223642	0.2284	0.2363	5008	,	,		23752	0.3056		0.1899	False		,,,				2504	0.1585				p.488_491del		Pindel	.											.	JAKMIP3	69	.	0			c.1463_1473del						PASS	.																																			SO:0001630	splice_region_variant	282973	exon9			.	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1473+1CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG>-	10.37:g.133954074_133954151delCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG		Somatic	34	.	.		WXS	Illumina HiSeq	Phase_I	44	26	0.591	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Del	DEL	ENST00000298622.4	37	CCDS44494.1																																																																																			.	.	none		0.644	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	In_Frame_Del	-	133954151	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	-	133954074	8	5	11	1	0	1	0	1	0	0	1	0	7942	564	20	0	1498	0	JAKMIP3	10	133954074	Splice_Site	DEL	CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	TCGA-FF-8042-01A-11D-2210-10	14984784	133954074	1580673	275	2560										
PHRF1	57661	hgsc.bcm.edu	37	chr11	608546	608546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaatccagggacaggagctcGaggtcagcgtcaccatcagt	13	11	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:608546G>A	ENST00000264555.5	+	14	3218	c.3090G>A	c.(3088-3090)tcG>tcA	p.S1030S	PHRF1_ENST00000416188.2_Silent_p.S1029S|PHRF1_ENST00000533464.1_Silent_p.S1026S|PHRF1_ENST00000413872.2_Silent_p.S1028S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1030	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACAGGAGCTCGAGGTCAGCGT	0.677																																					p.S1029S		Atlas-SNP	.											PHRF1_ENST00000264555,NS,lymphoid_neoplasm,+1,2	PHRF1	188	2	0			c.G3087A						PASS	.						26	31	29					11																	608546		2189	4293	6482	SO:0001819	synonymous_variant	57661	exon14			GAGCTCGAGGTCA	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3090G>A	11.37:g.608546G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	39	0.402062	NM_020901	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																				.	.	none		0.677	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	608546	G	A	608546	2	1	11	1	0	0	0	0	0	0	0	1	11861	1045	37	1		1	PHRF1	11	608546	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10		608546	134397970	276	2561										
EPS8L2	64787	hgsc.bcm.edu	37	chr11	726366	726366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggaaaatcagcaacatcaggGcgcagccacagaggcacttc	11	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:726366G>A	ENST00000533256.1	+	20	2191	c.1816G>A	c.(1816-1818)Gcg>Acg	p.A606T	EPS8L2_ENST00000526198.1_Missense_Mutation_p.A622T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A606T|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A606T			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	606					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)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACATCAGGGCGCAGCCACA	0.677																																					p.A606T		Atlas-SNP	.											.	EPS8L2	42	.	0			c.G1816A						PASS	.						22	24	23					11																	726366		2191	4288	6479	SO:0001583	missense	64787	exon19			ATCAGGGCGCAGC	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1816G>A	11.37:g.726366G>A	ENSP00000435585:p.Ala606Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	154	67	0.435065	NM_022772	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	8.791	0.930546	0.18131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	3.11	-1.15	0.09709	.	0.791425	0.10418	N	0.677052	T	0.05456	0.0144	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40887	-0.9539	10	0.12766	T	0.61	-3.7233	1.0949	0.01671	0.267:0.1586:0.4134:0.161	.	622;606	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	606;606;606;622	ENSP00000320828:A606T;ENSP00000435585:A606T;ENSP00000436035:A606T;ENSP00000436230:A622T	ENSP00000320828:A606T	A	+	1	0	EPS8L2	716366	0.001000	0.12720	0.003000	0.11579	0.497000	0.33675	0.551000	0.23361	-0.375000	0.07955	0.298000	0.19748	GCG	.	.	none		0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		A	726366	G	A	726366	3	1	11	1	0	0	0	0	1	0	0	0	5196	1203	42	2	1886	2	EPS8L2	11	726366	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	117820	726366	134280150	277	2562										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017575	1017575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agggatgtagaggttttggcCgtgctaaatgagcttcggga	16	5	0	2	rs76222533		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:1017575C>T	ENST00000421673.2	-	31	5276	c.5226G>A	c.(5224-5226)acG>acA	p.T1742T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTTTTGGCCGTGCTAAATG	0.537													-|||	1	0.000199681	0.0	0.0014	5008	,	,		39036	0.0		0.0	False		,,,				2504	0.0				p.T1742T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.G5226A						scavenged	.						697	677	684					11																	1017575		2190	4282	6472	SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5226G>A	11.37:g.1017575C>T		Somatic	907	109	0.120176		WXS	Illumina HiSeq	Phase_I	833	94	0.112845	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	strong		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017575	C	T	1017575	2	4	11	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017575	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	291209	1017575	133988941	278	2563										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093448	1093448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caccaccacggtgaccccaaCcccgacacccaccggcacac	6	23	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:1093448C>A	ENST00000441003.2	+	30	5294	c.5267C>A	c.(5266-5268)aCc>aAc	p.T1756N	MUC2_ENST00000333592.6_Missense_Mutation_p.T44N|MUC2_ENST00000359061.5_Missense_Mutation_p.T1723N|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.T1756N(3)|p.T1723N(3)		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)	gtgaccccaaccccgacaccc	0.622																																					p.T1756N		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,8	MUC2	614	8	6	Substitution - Missense(6)	kidney(6)	c.C5267A						scavenged	.						133	160	151					11																	1093448		2049	4049	6098	SO:0001583	missense	4583	exon30			CCCCAACCCCGAC	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.5267C>A	11.37:g.1093448C>A	ENSP00000415183:p.Thr1756Asn	Somatic	89	2	0.0224719		WXS	Illumina HiSeq	Phase_I	62	4	0.0645161	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	7.928	0.739947	0.15642	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.12465	2.73;2.68;2.81	1.81	0.625	0.17665	.	1.255720	0.06522	U	0.739910	T	0.10852	0.0265	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.35176	-0.9799	9	0.62326	D	0.03	.	6.7886	0.23687	0.2734:0.7266:0.0:0.0	.	1756	E7EUV1	.	N	1756;1723;44	ENSP00000415183:T1756N;ENSP00000351956:T1723N;ENSP00000331373:T44N	ENSP00000331373:T44N	T	+	2	0	MUC2	1083448	0.012000	0.17670	0.001000	0.08648	0.007000	0.05969	0.908000	0.28545	1.004000	0.39156	0.195000	0.17529	ACC	.	.	none		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093448	C	A	1093448	3	1	11	1	0	0	0	0	1	0	0	0	9975	507	18	4	5385	4	MUC2	11	1093448	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	75873	1093448	133913068	279	2564										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253691	1253691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccccacagagaactacgccCggcactggtgctcgcgcctg	11	17	0	1	rs56411917	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:1253691C>T	ENST00000529681.1	+	16	1913	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	MUC5B_ENST00000447027.1_Missense_Mutation_p.R622W	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	619	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTACGCCCGGCACTGGTG	0.662													c|||	4	0.000798722	0.0	0.0	5008	,	,		16017	0.001		0.002	False		,,,				2504	0.001				p.R619W		Atlas-SNP	.											.	MUC5B	473	.	0			c.C1855T						PASS	.	C	TRP/ARG	3,4183		0,3,2090	38	43	42		1855	4.3	0.9	11	dbSNP_129	42	32,8388		0,32,4178	yes	missense	MUC5B	NM_002458.2	101	0,35,6268	TT,TC,CC		0.38,0.0717,0.2776	probably-damaging	619/5763	1253691	35,12571	2093	4210	6303	SO:0001583	missense	727897	exon16			TACGCCCGGCACT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1855C>T	11.37:g.1253691C>T	ENSP00000436812:p.Arg619Trp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	96	42	0.4375	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	6.454	0.451926	0.12283	7.17E-4	0.0038	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.77229	-1.08;-1.08	4.32	4.32	0.51571	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	D	0.85557	0.5724	M	0.79475	2.455	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.70935	0.761;0.971;0.971	T	0.75451	-0.3313	9	0.87932	D	0	.	6.7306	0.23381	0.1774:0.732:0.0:0.0907	rs56411917	619;1278;622	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	W	619;622;620;655	ENSP00000436812:R619W;ENSP00000415793:R622W	ENSP00000343037:R620W	R	+	1	2	MUC5B	1210267	0.000000	0.05858	0.905000	0.35620	0.385000	0.30292	-0.600000	0.05693	1.946000	0.56461	0.462000	0.41574	CGG	C|0.997;T|0.003	0.003	strong		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1253691	C	T	1253691	3	4	11	1	0	0	0	0	1	0	0	0	9979	643	23	1	1926	1	MUC5B	11	1253691	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	160243	1253691	133752825	280	2565										
KRTAP5-3	387266	hgsc.bcm.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																					p.S154C		Atlas-SNP	.											KRTAP5-3,NS,carcinoma,+2,1	KRTAP5-3	33	1	0			c.A460T						scavenged	.						127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266	exon1			AGCAGCTGGGCTT	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys	Somatic	198	2	0.010101		WXS	Illumina HiSeq	Phase_I	184	3	0.0163043	NM_001012708	Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC	T|0.500;A|0.500	0.500	weak		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1629156	T	A	1629156	3	1	11	1	0	0	0	0	1	0	0	0	8562	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	375465	1629156	133377360	281	2566										
OR52M1	119772	hgsc.bcm.edu	37	chr11	4567169	4567169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgcgcttctcacctctgtgCcatcctgatcttttatgttc	6	13	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:4567169C>T	ENST00000360213.1	+	1	749	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCTCTGTGCCATCCTGATC	0.507																																					p.A250V		Atlas-SNP	.											OR52M1,NS,carcinoma,0,1	OR52M1	53	1	0			c.C749T						scavenged	.						306	263	277					11																	4567169		2201	4298	6499	SO:0001583	missense	119772	exon1			TCTGTGCCATCCT	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.749C>T	11.37:g.4567169C>T	ENSP00000353343:p.Ala250Val	Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	186	4	0.0215054	NM_001004137		Missense_Mutation	SNP	ENST00000360213.1	37	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	4.084	0.013444	0.07959	.	.	ENSG00000197790	ENST00000360213	T	0.00021	9.03	4.91	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.00178	0.0005	L	0.35487	1.065	0.25267	N	0.989546	D	0.89917	1.0	D	0.91635	0.999	T	0.43750	-0.9372	10	0.02654	T	1	.	8.4867	0.33076	0.2761:0.6468:0.0:0.0771	.	250	Q8NGK5	O52M1_HUMAN	V	250	ENSP00000353343:A250V	ENSP00000353343:A250V	A	+	2	0	OR52M1	4523745	0.676000	0.27567	0.968000	0.41197	0.478000	0.33099	0.835000	0.27531	0.747000	0.32809	-0.127000	0.14921	GCC	.	.	none		0.507	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4567169	C	T	4567169	3	4	11	1	0	0	0	0	1	0	0	0	11126	739	26	2	751	2	OR52M1	11	4567169	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2938013	4567169	130439347	282	2567										
OR51A4	401666	hgsc.bcm.edu	37	chr11	4967768	4967768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgttgtcagaacaggccaacTtcatgacatcctggtggaga	11	9	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:4967768T>G	ENST00000380373.2	-	1	588	c.563A>C	c.(562-564)aAg>aCg	p.K188T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGGCCAACTTCATGACATC	0.413																																					p.K188T		Atlas-SNP	.											.	OR51A4	73	.	0			c.A563C						PASS	.						72	70	70					11																	4967768		2196	4284	6480	SO:0001583	missense	401666	exon1			GCCAACTTCATGA	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.563A>C	11.37:g.4967768T>G	ENSP00000369731:p.Lys188Thr	Somatic	905	0	0		WXS	Illumina HiSeq	Phase_I	805	200	0.248447	NM_001005329		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734892	0.30774	.	.	ENSG00000205497	ENST00000380373	T	0.39997	1.05	3.44	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64583	0.2611	M	0.89163	3.01	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51356	-0.8716	9	0.87932	D	0	.	7.4109	0.27017	0.0:0.2083:0.0:0.7917	.	188	Q8NGJ6	O51A4_HUMAN	T	188	ENSP00000369731:K188T	ENSP00000369731:K188T	K	-	2	0	OR51A4	4924344	0.000000	0.05858	0.695000	0.30226	0.651000	0.38670	0.338000	0.19858	0.509000	0.28195	-0.627000	0.03993	AAG	.	.	none		0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		G	4967768	T	G	4967768	3	3	11	1	0	0	0	0	1	0	0	0	11087	1609	56	5	380	5	OR51A4	11	4967768	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	400599	4967768	130038748	283	2568										
TRIM34	53840	hgsc.bcm.edu	37	chr11	5664047	5664047	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaatcttttattatttcagAactgacagctgtccggtgct	8	8	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:5664047A>G	ENST00000514226.1	+	7	1212	c.875A>G	c.(874-876)gAa>gGa	p.E292G	TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000429814.2_Splice_Site_p.E292G|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.E292G|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.E646G	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	292	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)		ATTATTTCAGAACTGACAGCT	0.358																																					p.E646G		Atlas-SNP	.											.	TRIM6-TRIM34	68	.	0			c.A1937G						PASS	.						68	66	67					11																	5664047		2201	4297	6498	SO:0001630	splice_region_variant	445372	exon13			TTTCAGAACTGAC	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.875-1A>G	11.37:g.5664047A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001003819	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.237849	0.22711	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.45	3.02	3.02	0.34903	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.61362	0.2341	L	0.54908	1.71	0.26629	N	0.972503	B;B	0.32939	0.009;0.391	B;B	0.37780	0.008;0.258	T	0.53781	-0.8390	8	.	.	.	.	7.8167	0.29263	1.0:0.0:0.0:0.0	.	292;646	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	G	646;292;292;292;646	ENSP00000422947:E292G;ENSP00000402595:E292G;ENSP00000395982:E292G;ENSP00000346916:E646G	.	E	+	2	0	TRIM34;TRIM6-TRIM34	5620623	0.733000	0.28132	0.972000	0.41901	0.555000	0.35460	1.063000	0.30567	1.617000	0.50277	0.377000	0.23210	GAA	.	.	none		0.358	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	Missense_Mutation	G	5664047	A	G	5664047	5	3	11	1	0	0	0	0	0	0	1	0	16505	260	9	2	870	2	TRIM34	11	5664047	Splice_Site	SNP	A	TCGA-FF-8042-01A-11D-2210-10	696279	5664047	129342469	284	2569										
DCHS1	8642	hgsc.bcm.edu	37	chr11	6643761	6643761	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactggccacacgggggaacTcattgatcatgcggatctca	11	12	3	1	rs368872716		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:6643761T>A	ENST00000299441.3	-	21	9557	c.9146A>T	c.(9145-9147)gAg>gTg	p.E3049V	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3049					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGGGGGAACTCATTGATCAT	0.602																																					p.E3049V		Atlas-SNP	.											.	DCHS1	277	.	0			c.A9146T						PASS	.	T	VAL/GLU	0,4386		0,0,2193	31	23	26		9146	4.6	1	11		26	1,8573		0,1,4286	no	missense	DCHS1	NM_003737.2	121	0,1,6479	AA,AT,TT		0.0117,0.0,0.0077	probably-damaging	3049/3299	6643761	1,12959	2193	4287	6480	SO:0001583	missense	8642	exon21			GGGAACTCATTGA	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9146A>T	11.37:g.6643761T>A	ENSP00000299441:p.Glu3049Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	60	25	0.416667	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.535958	0.64972	0.0	1.17E-4	ENSG00000166341	ENST00000299441	T	0.64991	-0.13	4.62	4.62	0.57501	.	0.000000	0.37857	N	0.001901	T	0.78323	0.4265	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81252	-0.1017	10	0.66056	D	0.02	.	13.346	0.60573	0.0:0.0:0.0:1.0	.	3049	Q96JQ0	PCD16_HUMAN	V	3049	ENSP00000299441:E3049V	ENSP00000299441:E3049V	E	-	2	0	DCHS1	6600337	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.811000	0.86092	1.939000	0.56221	0.379000	0.24179	GAG	.	.	weak		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6643761	T	A	6643761	3	1	11	1	0	0	0	0	1	0	0	0	4287	1551	54	5	754	5	DCHS1	11	6643761	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	979714	6643761	128362755	285	2570										
DCHS1	8642	hgsc.bcm.edu	37	chr11	6646497	6646497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacaagcactgtgaggttggCacggccctcatgaggcccat	12	13	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:6646497C>T	ENST00000299441.3	-	19	7489	c.7078G>A	c.(7078-7080)Gcc>Acc	p.A2360T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2360	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAGGTTGGCACGGCCCTCA	0.587																																					p.A2360T		Atlas-SNP	.											.	DCHS1	277	.	0			c.G7078A						PASS	.						89	82	85					11																	6646497		2201	4296	6497	SO:0001583	missense	8642	exon19			GGTTGGCACGGCC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7078G>A	11.37:g.6646497C>T	ENSP00000299441:p.Ala2360Thr	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	52	25	0.480769	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735641	0.69189	.	.	ENSG00000166341	ENST00000299441	T	0.50548	0.74	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	D	0.000684	T	0.53834	0.1821	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40850	-0.9541	10	0.05959	T	0.93	.	16.9484	0.86236	0.0:1.0:0.0:0.0	.	2360	Q96JQ0	PCD16_HUMAN	T	2360	ENSP00000299441:A2360T	ENSP00000299441:A2360T	A	-	1	0	DCHS1	6603073	1.000000	0.71417	0.963000	0.40424	0.860000	0.49131	5.826000	0.69293	2.563000	0.86464	0.655000	0.94253	GCC	.	.	none		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6646497	C	T	6646497	3	4	11	1	0	0	0	0	1	0	0	0	4287	710	25	2	2830	2	DCHS1	11	6646497	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2736	6646497	128360019	286	2571										
IPO7	10527	hgsc.bcm.edu	37	chr11	9444655	9444655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atcaaggagtttctcatgctCtcacctggaagaatctgaag	9	9	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:9444655C>T	ENST00000379719.3	+	9	1151	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	337					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTCTCATGCTCTCACCTGGAA	0.303																																					p.L337F		Atlas-SNP	.											IPO7,NS,carcinoma,-1,1	IPO7	72	1	0			c.C1009T						scavenged	.						40	43	42					11																	9444655		2201	4287	6488	SO:0001583	missense	10527	exon9			CATGCTCTCACCT	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1009C>T	11.37:g.9444655C>T	ENSP00000369042:p.Leu337Phe	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	54	2	0.037037	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830479	0.16749	.	.	ENSG00000205339	ENST00000379719	T	0.67345	-0.26	5.34	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.196752	0.43260	D	0.000589	T	0.49029	0.1533	N	0.11560	0.145	0.42909	D	0.994255	B	0.30542	0.284	B	0.39617	0.305	T	0.48445	-0.9035	10	0.32370	T	0.25	.	8.0733	0.30701	0.1268:0.5685:0.3046:0.0	.	337	O95373	IPO7_HUMAN	F	337	ENSP00000369042:L337F	ENSP00000369042:L337F	L	+	1	0	IPO7	9401231	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	2.950000	0.49081	2.484000	0.83849	0.591000	0.81541	CTC	.	.	none		0.303	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		T	9444655	C	T	9444655	3	4	11	1	0	0	0	0	1	0	0	0	7797	913	32	2	1043	2	IPO7	11	9444655	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2798158	9444655	125561861	287	2572										
OR4C46	119749	hgsc.bcm.edu	37	chr11	51516008	51516008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccacctgtgtctcccacatcAcggttgtcatcttattcttt	5	14	5	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:51516008A>G	ENST00000328188.1	+	1	727	c.727A>G	c.(727-729)Acg>Gcg	p.T243A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTCCCACATCACGGTTGTCAT	0.468																																					p.T243A		Atlas-SNP	.											.	OR4C46	96	.	0			c.A727G						PASS	.						134	113	120					11																	51516008		2201	4296	6497	SO:0001583	missense	119749	exon1			CACATCACGGTTG		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.727A>G	11.37:g.51516008A>G	ENSP00000329056:p.Thr243Ala	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	199	77	0.386935	NM_001004703		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	4.480	0.089001	0.08583	.	.	ENSG00000185926	ENST00000328188	T	0.37235	1.21	2.33	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.26919	0.0659	L	0.41824	1.3	0.09310	N	1	B	0.33826	0.427	B	0.40940	0.344	T	0.12319	-1.0552	10	0.39692	T	0.17	.	1.9961	0.03457	0.5748:0.0:0.1596:0.2656	.	243	A6NHA9	O4C46_HUMAN	A	243	ENSP00000329056:T243A	ENSP00000329056:T243A	T	+	1	0	OR4C46	51372584	0.000000	0.05858	0.375000	0.26029	0.060000	0.15804	0.118000	0.15605	0.145000	0.18977	0.102000	0.15555	ACG	.	.	none		0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		G	51516008	A	G	51516008	3	3	11	1	0	0	0	0	1	0	0	0	11051	159	6	2	729	2	OR4C46	11	51516008	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	42071353	51516008	83490508	288	2573										
OR8I2	120586	hgsc.bcm.edu	37	chr11	55861587	55861587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gataacacatcatcgctgacCcaggcgcaggtggcatctgt	11	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:55861587C>T	ENST00000302124.2	+	1	835	c.804C>T	c.(802-804)acC>acT	p.T268T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T268T(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CATCGCTGACCCAGGCGCAGG	0.458																																					p.T268T		Atlas-SNP	.											OR8I2,NS,carcinoma,0,2	OR8I2	119	2	2	Substitution - coding silent(2)	lung(2)	c.C804T						scavenged	.						97	94	95					11																	55861587		2201	4296	6497	SO:0001819	synonymous_variant	120586	exon1			GCTGACCCAGGCG	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.804C>T	11.37:g.55861587C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_001003750	B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	CCDS31517.1																																																																																			.	.	none		0.458	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		T	55861587	C	T	55861587	2	4	11	1	0	0	0	0	0	0	0	1	11240	610	22	2		2	OR8I2	11	55861587	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4345579	55861587	79144929	289	2574										
OR5T1	390155	hgsc.bcm.edu	37	chr11	56043714	56043714	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctcctctgcttgctatttcTtgttctgacactcacgtaat	5	13	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:56043714T>G	ENST00000313033.2	+	1	686	c.600T>G	c.(598-600)tcT>tcG	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398																																					p.S200S		Atlas-SNP	.											OR5T1,NS,carcinoma,0,1	OR5T1	95	1	1	Substitution - coding silent(1)	lung(1)	c.T600G						PASS	.						236	224	228					11																	56043714		2201	4296	6497	SO:0001819	synonymous_variant	390155	exon1			TATTTCTTGTTCT	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.600T>G	11.37:g.56043714T>G		Somatic	402	0	0		WXS	Illumina HiSeq	Phase_I	315	115	0.365079	NM_001004745	B2RNM9	Silent	SNP	ENST00000313033.2	37	CCDS31525.1																																																																																			.	.	none		0.398	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		G	56043714	T	G	56043714	2	3	11	1	0	0	0	0	0	0	0	1	11181	1596	56	5		5	OR5T1	11	56043714	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	182127	56043714	78962802	290	2575										
CLP1	10978	hgsc.bcm.edu	37	chr11	57427378	57427378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgcagtgcgtttgggccgcCgtcccacttatgtggagctg	14	12	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:57427378C>T	ENST00000533682.1	+	2	1155	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	CLP1_ENST00000529430.1_Missense_Mutation_p.R155C|CLP1_ENST00000525602.1_Missense_Mutation_p.R144C|CLP1_ENST00000302731.4_Intron			Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TTTGGGCCGCCGTCCCACTTA	0.607																																					p.R144C		Atlas-SNP	.											CLP1,NS,carcinoma,-1,1	CLP1	40	1	0			c.C430T						scavenged	.						94	76	82					11																	57427378		2201	4296	6497	SO:0001583	missense	10978	exon2			GGCCGCCGTCCCA	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000533682.1:c.430C>T	11.37:g.57427378C>T	ENSP00000434995:p.Arg144Cys	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	133	3	0.0225564	NM_006831	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000533682.1	37	CCDS7964.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363806	0.61513	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602	T;T;T	0.26223	1.75;1.75;1.75	5.79	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.02064	-1.1220	10	0.37606	T	0.19	-19.1296	13.6726	0.62434	0.2765:0.7235:0.0:0.0	.	144	Q92989	CLP1_HUMAN	C	155;144;144	ENSP00000433406:R155C;ENSP00000434995:R144C;ENSP00000436066:R144C	ENSP00000436066:R144C	R	+	1	0	CLP1	57183954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.514000	0.45503	2.737000	0.93849	0.643000	0.83706	CGT	.	.	none		0.607	CLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393462.3	NM_006831		T	57427378	C	T	57427378	3	4	11	1	0	0	0	0	1	0	0	0	3550	652	23	1	432	1	CLP1	11	57427378	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1383664	57427378	77579138	291	2576										
SDHAF2	54949	hgsc.bcm.edu	37	chr11	61205178	61205178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcttctacagaggtgacagcCcaacagattcccaaaaggac	9	12	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:61205178C>T	ENST00000543265.1	+	2	121	c.118C>T	c.(118-120)Cca>Tca	p.P40S	SDHAF2_ENST00000534878.1_Missense_Mutation_p.P40S|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Missense_Mutation_p.P40S|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P28S|SDHAF2_ENST00000301761.2_Missense_Mutation_p.P40S					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						AGGTGACAGCCCAACAGATTC	0.468																																					p.P40S		Atlas-SNP	.											.	SDHAF2	26	.	0			c.C118T						PASS	.						179	177	177					11																	61205178		2202	4299	6501	SO:0001583	missense	54949	exon2			GACAGCCCAACAG	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000543265.1:c.118C>T	11.37:g.61205178C>T	ENSP00000443660:p.Pro40Ser	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	171	78	0.45614	NM_017841		Missense_Mutation	SNP	ENST00000543265.1	37		.	.	.	.	.	.	.	.	.	.	C	16.56	3.156855	0.57259	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.78126	-1.14;-1.1;-1.15	5.87	2.88	0.33553	.	0.155706	0.64402	D	0.000017	T	0.70798	0.3265	M	0.76002	2.32	0.42212	D	0.991818	P	0.35077	0.483	B	0.30943	0.122	T	0.64605	-0.6368	10	0.37606	T	0.19	-2.9957	6.0537	0.19799	0.2891:0.5695:0.0:0.1414	.	40	Q9NX18	SDHF2_HUMAN	S	40	ENSP00000443130:P40S;ENSP00000301761:P40S;ENSP00000443660:P40S	ENSP00000440939:P40S	P	+	1	0	SDHAF2;RP11-286N22.8	60961754	0.999000	0.42202	0.990000	0.47175	0.952000	0.60782	2.180000	0.42537	0.415000	0.25817	0.655000	0.94253	CCA	.	.	none		0.468	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398484.1	NM_017841		T	61205178	C	T	61205178	3	4	11	1	0	0	0	0	1	0	0	0	13964	623	22	2	124	2	SDHAF2	11	61205178	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3777800	61205178	73801338	292	2577										
DAGLA	747	hgsc.bcm.edu	37	chr11	61495668	61495668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctctttgcggagttcttccGggaccttgacattgtgccat	10	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:61495668G>A	ENST00000257215.5	+	7	796	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	227					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGTTCTTCCGGGACCTTGAC	0.627																																					p.R227Q		Atlas-SNP	.											.	DAGLA	109	.	0			c.G680A						PASS	.						203	182	189					11																	61495668		2202	4299	6501	SO:0001583	missense	747	exon7			TCTTCCGGGACCT	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.680G>A	11.37:g.61495668G>A	ENSP00000257215:p.Arg227Gln	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	94	37	0.393617	NM_006133	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225249	0.79576	.	.	ENSG00000134780	ENST00000257215	T	0.25414	1.8	4.78	4.78	0.61160	.	0.133125	0.49916	D	0.000137	T	0.43809	0.1264	L	0.42245	1.32	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.25467	-1.0131	10	0.44086	T	0.13	-22.5485	18.2062	0.89855	0.0:0.0:1.0:0.0	.	227	Q9Y4D2	DGLA_HUMAN	Q	227	ENSP00000257215:R227Q	ENSP00000257215:R227Q	R	+	2	0	DAGLA	61252244	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.753000	0.85153	2.373000	0.80994	0.555000	0.69702	CGG	.	.	none		0.627	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61495668	G	A	61495668	3	1	11	1	0	0	0	0	1	0	0	0	4226	1116	39	1	702	1	DAGLA	11	61495668	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	290490	61495668	73510848	293	2578										
NXF1	10482	hgsc.bcm.edu	37	chr11	62564687	62564687	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgcaagaccagactcttcaaGttttctgttccaaaatagct	6	10	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:62564687G>C	ENST00000532297.1	-	14	1775	c.1146C>G	c.(1144-1146)aaC>aaG	p.N382K	NXF1_ENST00000533048.1_5'Flank|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.N382K			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	382					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCTTCAAGTTTTCTGTTC	0.502																																					p.N382K		Atlas-SNP	.											.	NXF1	67	.	0			c.C1146G						PASS	.						66	60	62					11																	62564687		2201	4299	6500	SO:0001583	missense	10482	exon13			CTTCAAGTTTTCT	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1146C>G	11.37:g.62564687G>C	ENSP00000436679:p.Asn382Lys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	168	53	0.315476	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674708	0.29693	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.62788	-0.0;-0.0;-0.0	5.42	2.51	0.30379	.	0.279688	0.40818	N	0.001013	T	0.34048	0.0884	N	0.05280	-0.08	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.09377	0.002;0.004	T	0.06075	-1.0847	10	0.11485	T	0.65	-12.4081	9.1261	0.36816	0.2447:0.0:0.7553:0.0	.	425;382	E9PIN3;Q9UBU9	.;NXF1_HUMAN	K	382;382;425	ENSP00000294172:N382K;ENSP00000436679:N382K;ENSP00000435742:N425K	ENSP00000294172:N382K	N	-	3	2	NXF1	62321263	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.659000	0.37387	0.267000	0.21916	0.555000	0.69702	AAC	.	.	none		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		C	62564687	G	C	62564687	3	2	11	1	0	0	0	0	1	0	0	0	10782	1020	36	4	749	4	NXF1	11	62564687	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1069019	62564687	72441829	294	2579										
C11orf68	83638	hgsc.bcm.edu	37	chr11	65685335	65685335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgtggtgggtgatggcgagCtggcgcagggtacccggtgt	20	8	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:65685335C>T	ENST00000530188.1	-	1	496	c.351G>A	c.(349-351)caG>caA	p.Q117Q	DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000376991.2_5'Flank|DRAP1_ENST00000527119.1_5'Flank|C11orf68_ENST00000438576.2_Silent_p.Q159Q|DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000449692.3_Silent_p.Q158Q			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	117							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TGATGGCGAGCTGGCGCAGGG	0.687																																					p.Q159Q		Atlas-SNP	.											C11orf68_ENST00000438576,colon,carcinoma,-1,2	C11orf68	15	2	0			c.G477A						scavenged	.						45	42	43					11																	65685335		2201	4296	6497	SO:0001819	synonymous_variant	83638	exon2			GGCGAGCTGGCGC	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"basophilic leukemia-expressed protein"					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.351G>A	11.37:g.65685335C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_001135635	J3KQG9|Q9BT13	Silent	SNP	ENST00000530188.1	37																																																																																				.	.	none		0.687	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		T	65685335	C	T	65685335	2	4	11	1	0	0	0	0	0	0	0	1	1658	796	28	2		2	C11orf68	11	65685335	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3120648	65685335	69321181	295	2580										
CHKA	1119	hgsc.bcm.edu	37	chr11	67833918	67833918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtaattgtaactgctgtattCgaaatcaatgagcatcagtt	8	6	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:67833918C>T	ENST00000265689.4	-	8	1020	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CHKA_ENST00000356135.5_Missense_Mutation_p.E314K	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	332					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CTGCTGTATTCGAAATCAATG	0.338																																					p.E332K		Atlas-SNP	.											.	CHKA	41	.	0			c.G994A						PASS	.						200	186	191					11																	67833918		2200	4294	6494	SO:0001583	missense	1119	exon8			TGTATTCGAAATC	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.994G>A	11.37:g.67833918C>T	ENSP00000265689:p.Glu332Lys	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	164	57	0.347561	NM_001277	Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	C	36	5.789905	0.96945	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	D;D	0.86366	-2.11;-2.11	5.63	5.63	0.86233	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.106946	0.64402	D	0.000008	D	0.96134	0.8740	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.97;0.993	D	0.97172	0.9845	10	0.87932	D	0	-21.1536	19.6499	0.95796	0.0:1.0:0.0:0.0	.	314;332	P35790-2;P35790	.;CHKA_HUMAN	K	332;314	ENSP00000265689:E332K;ENSP00000348454:E314K	ENSP00000265689:E332K	E	-	1	0	CHKA	67590494	1.000000	0.71417	0.891000	0.34965	0.990000	0.78478	7.730000	0.84881	2.647000	0.89833	0.491000	0.48974	GAA	.	.	none		0.338	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		T	67833918	C	T	67833918	3	4	11	1	0	0	0	0	1	0	0	0	3347	893	31	1	399	1	CHKA	11	67833918	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2148583	67833918	67172598	296	2581										
SERPINH1	871	hgsc.bcm.edu	37	chr11	75277624	75277624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acccgtggtggtggcctcgtCgctagggctcgtgtcgctgg	17	12	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:75277624C>T	ENST00000524558.1	+	2	1665	c.230C>T	c.(229-231)tCg>tTg	p.S77L	SERPINH1_ENST00000530284.1_Missense_Mutation_p.S77L|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000358171.3_Missense_Mutation_p.S77L|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S77L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	77					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGCCTCGTCGCTAGGGCTC	0.706																																					p.S77L		Atlas-SNP	.											.	SERPINH1	33	.	0			c.C230T						PASS	.						45	32	36					11																	75277624		2197	4292	6489	SO:0001583	missense	871	exon2			CCTCGTCGCTAGG	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.230C>T	11.37:g.75277624C>T	ENSP00000434412:p.Ser77Leu	Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	12	5	0.416667	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598021	0.87055	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526242;ENST00000526397;ENST00000421448;ENST00000529643;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000528990;ENST00000533449;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.28	5.28	0.74379	Serpin domain (3);	0.055957	0.64402	D	0.000001	D	0.91405	0.7288	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.931;0.931	D	0.92387	0.5918	10	0.87932	D	0	.	16.4242	0.83809	0.0:1.0:0.0:0.0	.	77;77	E9PPV6;P50454	.;SERPH_HUMAN	L	77;77;52;77;77;77;77;77;77;77;77;77;77	ENSP00000434657:S77L;ENSP00000350894:S77L;ENSP00000431384:S52L;ENSP00000434964:S77L;ENSP00000435936:S77L;ENSP00000436305:S77L;ENSP00000436040:S77L;ENSP00000434412:S77L;ENSP00000431827:S77L;ENSP00000435452:S77L;ENSP00000437108:S77L	ENSP00000350894:S77L	S	+	2	0	SERPINH1	74955272	1.000000	0.71417	0.874000	0.34290	0.562000	0.35680	7.731000	0.84895	2.470000	0.83445	0.563000	0.77884	TCG	.	.	none		0.706	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		T	75277624	C	T	75277624	3	4	11	1	0	0	0	0	1	0	0	0	14117	893	31	1	232	1	SERPINH1	11	75277624	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7443706	75277624	59728892	297	2582										
BIRC2	329	hgsc.bcm.edu	37	chr11	102248352	102248352	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggaacatgatattattaaaCaaaaaacacagataccttta	4	6	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:102248352C>G	ENST00000227758.2	+	7	2891	c.1492C>G	c.(1492-1494)Caa>Gaa	p.Q498E	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q449E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q477E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	498	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TATTATTAAACAAAAAACACA	0.338																																					p.Q498E		Atlas-SNP	.											.	BIRC2	51	.	0			c.C1492G						PASS	.						67	76	73					11																	102248352		2203	4296	6499	SO:0001583	missense	329	exon7			ATTAAACAAAAAA	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1492C>G	11.37:g.102248352C>G	ENSP00000227758:p.Gln498Glu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	75	25	0.333333	NM_001256163	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361246	0.61403	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000531259	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.83	5.83	0.93111	DEATH-like (2);Caspase Recruitment (3);	0.259553	0.46145	D	0.000306	T	0.33933	0.0880	L	0.46819	1.47	0.42351	D	0.992372	B	0.31931	0.347	B	0.40864	0.342	T	0.02829	-1.1105	10	0.30854	T	0.27	-21.752	20.1316	0.98000	0.0:1.0:0.0:0.0	.	498	Q13490	BIRC2_HUMAN	E	449;160;498;498;477;33	ENSP00000431723:Q449E;ENSP00000433851:Q160E;ENSP00000227758:Q498E;ENSP00000434979:Q477E;ENSP00000436741:Q33E	ENSP00000227758:Q498E	Q	+	1	0	BIRC2	101753562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.898000	0.56281	2.766000	0.95052	0.650000	0.86243	CAA	.	.	none		0.338	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		G	102248352	C	G	102248352	3	3	11	1	0	0	0	0	1	0	0	0	1435	479	17	4	1514	4	BIRC2	11	102248352	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	26970728	102248352	32758164	298	2583										
ROBO3	64221	hgsc.bcm.edu	37	chr11	124740064	124740064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcactaccactccatagagcGtccctcattcctgcgcagac	6	17	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:124740064G>T	ENST00000397801.1	+	5	962	c.770G>T	c.(769-771)cGt>cTt	p.R257L	ROBO3_ENST00000538940.1_Missense_Mutation_p.R235L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	257					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCATAGAGCGTCCCTCATTC	0.552																																					p.R257L		Atlas-SNP	.											ROBO3_ENST00000397801,NS,carcinoma,0,6	ROBO3	199	6	0			c.G770T						PASS	.						132	139	137					11																	124740064		2074	4209	6283	SO:0001583	missense	64221	exon5			TAGAGCGTCCCTC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.770G>T	11.37:g.124740064G>T	ENSP00000380903:p.Arg257Leu	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	138	67	0.485507	NM_022370		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323040	0.81580	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.29655	1.56;1.56	4.96	4.02	0.46733	Immunoglobulin-like fold (1);	0.000000	0.33753	U	0.004590	T	0.49474	0.1559	L	0.49699	1.58	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.51076	-0.8751	10	0.59425	D	0.04	.	15.0	0.71464	0.0:0.1438:0.8562:0.0	.	257	Q96MS0	ROBO3_HUMAN	L	257;235	ENSP00000380903:R257L;ENSP00000441797:R235L	ENSP00000380903:R257L	R	+	2	0	ROBO3	124245274	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	9.608000	0.98331	1.173000	0.42796	0.462000	0.41574	CGT	.	.	none		0.552	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		T	124740064	G	T	124740064	3	4	11	1	0	0	0	0	1	0	0	0	13515	1145	40	4	788	4	ROBO3	11	124740064	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	22491712	124740064	10266452	299	2584										
KCNJ5	3762	hgsc.bcm.edu	37	chr11	128781671	128781671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccagaggggattatactccTcttggtccaggccatcctgg	11	12	1	1	rs386352318		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:128781671T>C	ENST00000338350.4	+	3	855	c.503T>C	c.(502-504)cTc>cCc	p.L168P	KCNJ5_ENST00000533599.1_Missense_Mutation_p.L168P|KCNJ5_ENST00000529694.1_Missense_Mutation_p.L168P			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	168			L -> R (in APA; somatic mutation; recurrent mutation; results in loss of channel selectivity and membrane depolarization). {ECO:0000269|PubMed:21311022, ECO:0000269|PubMed:22203740, ECO:0000269|PubMed:22275527, ECO:0000269|PubMed:22848660}.		potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ATTATACTCCTCTTGGTCCAG	0.537																																					p.L168P	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	Atlas-SNP	.											KCNJ5,adrenal_gland,adrenal_cortical_adenoma,0,173	KCNJ5	560	173	0			c.T503C						scavenged	.						156	159	158					11																	128781671		2201	4297	6498	SO:0001583	missense	3762	exon2			TACTCCTCTTGGT	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.503T>C	11.37:g.128781671T>C	ENSP00000339960:p.Leu168Pro	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	268	3	0.011194	NM_000890	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313251	0.40895	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95656	-3.77;-3.77;-3.77	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.87932	D	0	.	15.5352	0.75996	0.0:0.0:0.0:1.0	.	168	P48544	IRK5_HUMAN	P	168	ENSP00000433295:L168P;ENSP00000339960:L168P;ENSP00000434266:L168P	ENSP00000339960:L168P	L	+	2	0	KCNJ5	128286881	1.000000	0.71417	0.148000	0.22405	0.042000	0.13812	8.040000	0.89188	2.068000	0.61886	0.459000	0.35465	CTC	.	.	none		0.537	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		C	128781671	T	C	128781671	3	2	11	1	0	0	0	0	1	0	0	0	8054	1551	54	3	505	3	KCNJ5	11	128781671	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	4041607	128781671	6224845	300	2585										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129801147	129801147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcctttgtgggaaaatgtaGcaagtcctgaaatttgcaat	9	7	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:129801147G>A	ENST00000360871.3	-	11	1525	c.1294C>T	c.(1294-1296)Cta>Tta	p.L432L	PRDM10_ENST00000304538.6_Silent_p.L346L|PRDM10_ENST00000526082.1_Silent_p.L346L|PRDM10_ENST00000423662.2_Silent_p.L346L|PRDM10_ENST00000358825.5_Silent_p.L432L|PRDM10_ENST00000528746.1_Silent_p.L406L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	432					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)		GGAAAATGTAGCAAGTCCTGA	0.458																																					p.L432L		Atlas-SNP	.											.	PRDM10	120	.	0			c.C1294T						PASS	.						92	95	94					11																	129801147		2201	4297	6498	SO:0001819	synonymous_variant	56980	exon11			AATGTAGCAAGTC	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.1294C>T	11.37:g.129801147G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	140	43	0.307143	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																			.	.	none		0.458	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		A	129801147	G	A	129801147	2	1	11	1	0	0	0	0	0	0	0	1	12451	962	34	2		2	PRDM10	11	129801147	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1019476	129801147	5205369	301	2586										
ADAMTS15	170689	hgsc.bcm.edu	37	chr11	130343214	130343214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gccgctgaccgtggaggtccTctccgtggggaagatgacac	15	12	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr11:130343214T>C	ENST00000299164.2	+	8	2351	c.2351T>C	c.(2350-2352)cTc>cCc	p.L784P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	784	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGAGGTCCTCTCCGTGGGG	0.667																																					p.L784P		Atlas-SNP	.											ADAMTS15,NS,carcinoma,+1,1	ADAMTS15	103	1	0			c.T2351C						scavenged	.						62	67	65					11																	130343214		2201	4297	6498	SO:0001583	missense	170689	exon8			AGGTCCTCTCCGT	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2351T>C	11.37:g.130343214T>C	ENSP00000299164:p.Leu784Pro	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	133	3	0.0225564	NM_139055	Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183325	0.78677	.	.	ENSG00000166106	ENST00000299164	T	0.68181	-0.31	5.91	4.77	0.60923	ADAM-TS Spacer 1 (1);	.	.	.	.	D	0.84165	0.5412	M	0.91561	3.22	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.86808	0.1996	9	0.87932	D	0	.	12.5366	0.56145	0.1249:0.0:0.0:0.8751	.	784	Q8TE58	ATS15_HUMAN	P	784	ENSP00000299164:L784P	ENSP00000299164:L784P	L	+	2	0	ADAMTS15	129848424	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	5.968000	0.70413	1.045000	0.40225	0.533000	0.62120	CTC	.	.	none		0.667	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		C	130343214	T	C	130343214	3	2	11	1	0	0	0	0	1	0	0	0	260	1551	54	3	2381	3	ADAMTS15	11	130343214	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	542067	130343214	4663302	302	2587										
KCNA6	3742	hgsc.bcm.edu	37	chr12	4919954	4919957	+	Frame_Shift_Del	DEL	CTCA	CTCA	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atggggaccgggggctcctcCtcactcagtactcttggggg							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	CTCA	CTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:4919954_4919957delCTCA	ENST00000280684.3	+	1	1613_1616	c.747_750delCTCA	c.(745-750)tcctcafs	p.SS249fs	KCNA6_ENST00000433855.1_Frame_Shift_Del_p.SS249fs|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	249					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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GGGGCTCCTCCTCACTCAGTACTC	0.554										HNSCC(72;0.22)																											p.249_250del		Pindel,Atlas-Indel	.											.	KCNA6	122	.	0			c.746_749del						PASS	.																																			SO:0001589	frameshift_variant	3742	exon1			.	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.747_750delCTCA	12.37:g.4919958_4919961delCTCA	ENSP00000280684:p.Ser249fs	Somatic	149	.	.		WXS	Illumina HiSeq	Phase_I	121	36	0.298	NM_002235		Frame_Shift_Del	DEL	ENST00000280684.3	37	CCDS8534.1																																																																																			.	.	none		0.554	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		-	4919957	CTCA	-	4919954	7	5	11	1	0	1	0	1	0	0	0	0	8007	668	24	0	749	0	KCNA6	12	4919954	Frame_Shift_Del	DEL	CTCA	TCGA-FF-8042-01A-11D-2210-10		4919954	128931941	303	2588										
KCNA1	3736	hgsc.bcm.edu	37	chr12	5020724	5020724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accctggcgcagttccccaaCacgctgctgggcaaccctaa	9	17	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:5020724C>T	ENST00000382545.3	+	2	1287	c.180C>T	c.(178-180)aaC>aaT	p.N60N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	60					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGTTCCCCAACACGCTGCTGG	0.627																																					p.N60N		Atlas-SNP	.											KCNA1,right_lower_lobe,carcinoma,+1,1	KCNA1	112	1	0			c.C180T						scavenged	.						56	57	56					12																	5020724		2203	4300	6503	SO:0001819	synonymous_variant	3736	exon2			CCCCAACACGCTG	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.180C>T	12.37:g.5020724C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	142	3	0.0211268	NM_000217	A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	CCDS8535.1																																																																																			.	.	none		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5020724	C	T	5020724	2	4	11	1	0	0	0	0	0	0	0	1	8001	477	17	2		2	KCNA1	12	5020724	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	100770	5020724	128831171	304	2589										
VWF	7450	hgsc.bcm.edu	37	chr12	6125705	6125705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttggctggggcctccctccCgctgcatgacgtccacaagg	12	15	0	1	rs373074982		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:6125705C>T	ENST00000261405.5	-	30	5542	c.5288G>A	c.(5287-5289)cGg>cAg	p.R1763Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1763	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTCCCTCCCGCTGCATGAC	0.547																																					p.R1763Q		Atlas-SNP	.											VWF,NS,carcinoma,+1,1	VWF	338	1	0			c.G5288A						scavenged	.	C	GLN/ARG	0,4406		0,0,2203	44	40	42		5288	-6.7	0.3	12		42	1,8595		0,1,4297	no	missense	VWF	NM_000552.3	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1763/2814	6125705	1,13001	2203	4298	6501	SO:0001583	missense	7450	exon30			CCCTCCCGCTGCA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5288G>A	12.37:g.6125705C>T	ENSP00000261405:p.Arg1763Gln	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	112	4	0.0357143	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.555924	0.27827	0.0	1.16E-4	ENSG00000110799	ENST00000261405	T	0.77229	-1.08	4.34	-6.71	0.01760	von Willebrand factor, type A (3);	0.826641	0.10191	N	0.704579	T	0.55386	0.1917	N	0.17594	0.5	0.28115	N	0.930832	B	0.09022	0.002	B	0.06405	0.002	T	0.36163	-0.9759	10	0.27785	T	0.31	.	9.3941	0.38392	0.0993:0.1777:0.0:0.723	.	1763	P04275	VWF_HUMAN	Q	1763	ENSP00000261405:R1763Q	ENSP00000261405:R1763Q	R	-	2	0	VWF	5995966	0.002000	0.14202	0.340000	0.25575	0.710000	0.40934	-0.563000	0.05943	-1.163000	0.02793	0.555000	0.69702	CGG	.	.	weak		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6125705	C	T	6125705	3	4	11	1	0	0	0	0	1	0	0	0	17243	652	23	1	3245	1	VWF	12	6125705	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1104981	6125705	127726190	305	2590										
CHD4	1108	hgsc.bcm.edu	37	chr12	6702746	6702746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccagttgatgatggtagaaaGaggggcgctcactaggaagg	16	6	1	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:6702746G>C	ENST00000357008.2	-	16	2513	c.2350C>G	c.(2350-2352)Ctt>Gtt	p.L784V	CHD4_ENST00000544040.1_Missense_Mutation_p.L777V|CHD4_ENST00000544484.1_Missense_Mutation_p.L781V|CHD4_ENST00000309577.6_Missense_Mutation_p.L784V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	784	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATGGTAGAAAGAGGGGCGCTC	0.547																																					p.L784V	Colon(32;586 792 4568 16848 45314)	Atlas-SNP	.											.	CHD4	539	.	0			c.C2350G						PASS	.						83	82	82					12																	6702746		2203	4300	6503	SO:0001583	missense	1108	exon16			TAGAAAGAGGGGC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2350C>G	12.37:g.6702746G>C	ENSP00000349508:p.Leu784Val	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	77	25	0.324675	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938881	0.73557	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95645	0.8584	M	0.69248	2.105	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.996	D;D;D	0.79784	0.993;0.955;0.986	D	0.95649	0.8705	10	0.87932	D	0	-0.7394	12.4824	0.55852	0.0801:0.0:0.9199:0.0	.	784;784;777	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	V	781;777;784;784;758	ENSP00000440392:L781V;ENSP00000440542:L777V;ENSP00000312419:L784V;ENSP00000349508:L784V	ENSP00000312419:L784V	L	-	1	0	CHD4	6573007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.793000	0.85851	2.493000	0.84123	0.591000	0.81541	CTT	.	.	none		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6702746	G	C	6702746	3	2	11	1	0	0	0	0	1	0	0	0	3327	942	33	4	3488	4	CHD4	12	6702746	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	577041	6702746	127149149	306	2591										
A2ML1	144568	hgsc.bcm.edu	37	chr12	9006740	9006740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcaggtcacattaactttacTattagtacaaagattctgga	6	7	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:9006740T>C	ENST00000299698.7	+	21	2787	c.2607T>C	c.(2605-2607)acT>acC	p.T869T	A2ML1_ENST00000539547.1_Silent_p.T378T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTAACTTTACTATTAGTACAA	0.478																																					p.T869T		Atlas-SNP	.											.	A2ML1	199	.	0			c.T2607C						PASS	.						56	57	57					12																	9006740		1862	4096	5958	SO:0001819	synonymous_variant	144568	exon21			CTTTACTATTAGT	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2607T>C	12.37:g.9006740T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	61	21	0.344262	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																			.	.	none		0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		C	9006740	T	C	9006740	2	2	11	1	0	0	0	0	0	0	0	1	5	1509	53	3		3	A2ML1	12	9006740	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10	2303994	9006740	124845155	307	2592										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588526	10588526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgcctttaggtttcctttgCtgccgctttgggtcctgggc	12	11	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:10588526C>T	ENST00000539033.1	-	1	74	c.60G>A	c.(58-60)caG>caA	p.Q20Q	KLRC2_ENST00000381901.1_Silent_p.Q20Q|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Silent_p.Q20Q																							GTTTCCTTTGCTGCCGCTTTG	0.428																																					p.Q20Q		Atlas-SNP	.											KLRC2,colon,carcinoma,-2,1	KLRC2	29	1	0			c.G60A						scavenged	.						254	253	254					12																	10588526		2203	4300	6503	SO:0001819	synonymous_variant	3822	exon1			CCTTTGCTGCCGC																												ENST00000539033.1:c.60G>A	12.37:g.10588526C>T		Somatic	599	1	0.00166945		WXS	Illumina HiSeq	Phase_I	517	5	0.00967118	NM_002260		Silent	SNP	ENST00000539033.1	37																																																																																				.	.	none		0.428	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			T	10588526	C	T	10588526	2	4	11	1	0	0	0	0	0	0	0	1	8416	796	28	2		2	KLRC2	12	10588526	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1581786	10588526	123263369	308	2593										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546598	11546598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtgggggtggtccttgtggCtttcctggaggaggtggagg	21	5	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:11546598C>T	ENST00000389362.4	-	3	449	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	138	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597																																					p.K138K		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	0			c.G414A						scavenged	.						241	220	227					12																	11546598		2201	4296	6497	SO:0001819	synonymous_variant	653247	exon3			TTGTGGCTTTCCT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.414G>A	12.37:g.11546598C>T		Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	214	4	0.0186916	NM_006248	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																			.	.	none		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546598	C	T	11546598	2	4	11	1	0	0	0	0	0	0	0	1	12443	796	28	2		2	PRB2	12	11546598	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	958072	11546598	122305297	309	2594										
GRIN2B	2904	hgsc.bcm.edu	37	chr12	13716441	13716441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggttgcctgctttcttgcaaGcctcacaccggatgcacgcc	10	15	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:13716441G>A	ENST00000609686.1	-	13	3940	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1244					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTCTTGCAAGCCTCACACCG	0.622																																					p.A1244V		Atlas-SNP	.											.	GRIN2B	303	.	0			c.C3731T						PASS	.						81	83	82					12																	13716441		2203	4300	6503	SO:0001583	missense	2904	exon13			TTGCAAGCCTCAC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3731C>T	12.37:g.13716441G>A	ENSP00000477455:p.Ala1244Val	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	64	20	0.3125	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746037	0.30955	.	.	ENSG00000150086	ENST00000279593	T	0.15952	2.38	4.97	4.97	0.65823	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.116103	0.56097	D	0.000021	T	0.14270	0.0345	L	0.27053	0.805	0.44168	D	0.996978	B	0.18461	0.028	B	0.27076	0.076	T	0.04178	-1.0971	10	0.51188	T	0.08	.	12.1704	0.54155	0.078:0.0:0.922:0.0	.	1244	Q13224	NMDE2_HUMAN	V	1244	ENSP00000279593:A1244V	ENSP00000279593:A1244V	A	-	2	0	GRIN2B	13607708	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	4.723000	0.61965	2.735000	0.93741	0.655000	0.94253	GCT	.	.	none		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13716441	G	A	13716441	3	1	11	1	0	0	0	0	1	0	0	0	6780	971	34	2	727	2	GRIN2B	12	13716441	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2169843	13716441	120135454	310	2595										
WBP11	51729	hgsc.bcm.edu	37	chr12	14952649	14952649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgcagctcgaaccatcatgCgctgttttttgttcttagaa	8	10	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:14952649C>T	ENST00000261167.2	-	4	343	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	37	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						AACCATCATGCGCTGTTTTTT	0.368																																					p.R37H		Atlas-SNP	.											WBP11,NS,carcinoma,-1,1	WBP11	66	1	0			c.G110A						scavenged	.						103	85	91					12																	14952649		2201	4298	6499	SO:0001583	missense	51729	exon4			ATCATGCGCTGTT	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.110G>A	12.37:g.14952649C>T	ENSP00000261167:p.Arg37His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	63	2	0.031746	NM_016312	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985656	0.74589	.	.	ENSG00000084463	ENST00000261167;ENST00000537574;ENST00000535328	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78807	-0.2059	9	0.66056	D	0.02	-1.017	16.3982	0.83630	0.0:1.0:0.0:0.0	.	37	Q9Y2W2	WBP11_HUMAN	H	37	.	ENSP00000261167:R37H	R	-	2	0	WBP11	14843916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.152000	0.77419	2.738000	0.93877	0.609000	0.83330	CGC	.	.	none		0.368	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		T	14952649	C	T	14952649	3	4	11	1	0	0	0	0	1	0	0	0	17255	768	27	1	1851	1	WBP11	12	14952649	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1236208	14952649	118899246	311	2596										
OVCH1	341350	hgsc.bcm.edu	37	chr12	29604411	29604411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctgaaactctgagcacccaAgaacattccagtcttcctct	6	14	3	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:29604411A>G	ENST00000318184.5	-	22	2621	c.2622T>C	c.(2620-2622)tcT>tcC	p.S874S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	874	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAGCACCCAAGAACATTCCA	0.438																																					p.S874S		Atlas-SNP	.											.	OVCH1	195	.	0			c.T2622C						PASS	.						85	80	81					12																	29604411		1880	4105	5985	SO:0001819	synonymous_variant	341350	exon22			CACCCAAGAACAT	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2622T>C	12.37:g.29604411A>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	121	33	0.272727	NM_183378		Silent	SNP	ENST00000318184.5	37																																																																																				.	.	none		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		G	29604411	A	G	29604411	2	3	11	1	0	0	0	0	0	0	0	1	11323	59	3	3		3	OVCH1	12	29604411	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	14651762	29604411	104247484	312	2597										
FAM60A	58516	hgsc.bcm.edu	37	chr12	31448253	31448253	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cattgcagatgtctcctgaaCgagtctcatgcaatctgata	8	10	3	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:31448253C>G	ENST00000337682.4	-	3	511	c.143G>C	c.(142-144)cGt>cCt	p.R48P	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.R48P	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	48					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GTCTCCTGAACGAGTCTCATG	0.388																																					p.R48P		Atlas-SNP	.											FAM60A,NS,carcinoma,-1,1	FAM60A	16	1	0			c.G143C						scavenged	.						73	69	71					12																	31448253		2203	4300	6503	SO:0001583	missense	58516	exon4			CCTGAACGAGTCT	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.143G>C	12.37:g.31448253C>G	ENSP00000337477:p.Arg48Pro	Somatic	332	3	0.00903614		WXS	Illumina HiSeq	Phase_I	279	5	0.0179211	NM_021238	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748018	0.69533	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	M	0.81112	2.525	0.80722	D	1	P;D	0.76494	0.903;0.999	B;D	0.68039	0.307;0.955	D	0.83646	0.0153	10	0.87932	D	0	.	17.8807	0.88840	0.0:1.0:0.0:0.0	.	48;89	Q9NP50;B7Z287	FA60A_HUMAN;.	P	48;48;89;48;48	ENSP00000337477:R48P;ENSP00000393279:R48P;ENSP00000443881:R48P;ENSP00000437363:R48P	ENSP00000337477:R48P	R	-	2	0	FAM60A	31339520	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.639000	0.83342	2.285000	0.76669	0.561000	0.74099	CGT	.	.	none		0.388	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		G	31448253	C	G	31448253	3	3	11	1	0	0	0	0	1	0	0	0	5595	536	19	4	538	4	FAM60A	12	31448253	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1843842	31448253	102403642	313	2598										
ALG10	84920	hgsc.bcm.edu	37	chr12	34179242	34179242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtgcttttgtagtagttaatGgtggaattgttattggcgat	13	2	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:34179242G>A	ENST00000266483.2	+	3	1133	c.814G>A	c.(814-816)Ggt>Agt	p.G272S	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	272					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTAGTTAATGGTGGAATTGT	0.373																																					p.G272S		Atlas-SNP	.											.	ALG10	53	.	0			c.G814A						PASS	.						174	180	178					12																	34179242		2203	4297	6500	SO:0001583	missense	84920	exon3			GTTAATGGTGGAA	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.814G>A	12.37:g.34179242G>A	ENSP00000266483:p.Gly272Ser	Somatic	343	0	0		WXS	Illumina HiSeq	Phase_I	292	111	0.380137	NM_032834	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288670	0.59976	.	.	ENSG00000139133	ENST00000266483	T	0.56611	0.45	3.37	2.46	0.29980	.	0.194989	0.53938	N	0.000042	T	0.66218	0.2767	M	0.91038	3.17	0.80722	D	1	D	0.54964	0.969	P	0.51487	0.671	T	0.69647	-0.5089	10	0.66056	D	0.02	.	8.4466	0.32845	0.1241:0.0:0.8759:0.0	.	272	Q5BKT4	AG10A_HUMAN	S	272	ENSP00000266483:G272S	ENSP00000266483:G272S	G	+	1	0	ALG10	34070509	1.000000	0.71417	0.030000	0.17652	0.829000	0.46940	4.077000	0.57598	0.537000	0.28751	0.184000	0.17185	GGT	.	.	none		0.373	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		A	34179242	G	A	34179242	3	1	11	1	0	0	0	0	1	0	0	0	511	1348	47	2	824	2	ALG10	12	34179242	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2730989	34179242	99672653	314	2599										
SENP1	29843	hgsc.bcm.edu	37	chr12	48477432	48477432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tggggctcaaaagacttcgaCgacatgaaccactccaagat	9	11	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:48477432C>T	ENST00000004980.5	-	6	972	c.494G>A	c.(493-495)cGt>cAt	p.R165H	SENP1_ENST00000448372.1_Missense_Mutation_p.R165H|SENP1_ENST00000551330.1_Missense_Mutation_p.R165H|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.R165H|SENP1_ENST00000549595.1_Missense_Mutation_p.R165H|RNU6-1203P_ENST00000410703.1_RNA			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	165	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAGACTTCGACGACATGAACC	0.413																																					p.R165H		Atlas-SNP	.											SENP1_ENST00000448372,colon,carcinoma,0,2	SENP1	44	2	0			c.G494A						scavenged	.						118	110	112					12																	48477432		1856	4088	5944	SO:0001583	missense	29843	exon6			CTTCGACGACATG	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.494G>A	12.37:g.48477432C>T	ENSP00000004980:p.Arg165His	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_001267594	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262787	0.80358	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.2	3.28	0.37604	.	0.275088	0.35525	N	0.003141	T	0.25717	0.0626	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.818;0.911	T	0.05115	-1.0905	10	0.59425	D	0.04	-9.9251	14.3694	0.66828	0.0:0.8501:0.1499:0.0	.	165;165	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	H	165	ENSP00000004980:R165H;ENSP00000394791:R165H;ENSP00000446681:R165H;ENSP00000450076:R165H;ENSP00000447328:R165H	ENSP00000004980:R165H	R	-	2	0	SENP1	46763699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.577000	0.60922	1.316000	0.45131	0.655000	0.94253	CGT	.	.	none		0.413	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		T	48477432	C	T	48477432	3	4	11	1	0	0	0	0	1	0	0	0	14046	536	19	1	1489	1	SENP1	12	48477432	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	14298190	48477432	85374463	315	2600										
MLL2	8085	hgsc.bcm.edu	37	chr12	49415920	49415920	+	Missense_Mutation	SNP	G	G	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccacacagttaggggcacagGaatggttaatgtacctgggc							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:49415920G>T	ENST00000301067.7	-	53	16426	c.16427C>A	c.(16426-16428)tCc>tAc	p.S5476Y	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5476	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGGCACAGGAATGGTTAAT	0.507																																					p.S5476Y		Atlas-SNP	.											.	MLL2	1173	.	0			c.C16427A						PASS	.						159	154	156					12																	49415920		2066	4208	6274	SO:0001583	missense	8085	exon53			GCACAGGAATGGT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16427C>A	12.37:g.49415920G>T	ENSP00000301067:p.Ser5476Tyr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	49	16	0.326531	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.935624	0.52972	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.94184	-3.37;-3.37	4.97	4.97	0.65823	SET domain (3);	0.000000	0.35207	N	0.003365	D	0.98400	0.9468	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99782	1.1028	10	0.87932	D	0	.	17.4382	0.87558	0.0:0.0:1.0:0.0	.	5476	O14686	MLL2_HUMAN	Y	5476;157	ENSP00000301067:S5476Y;ENSP00000435714:S157Y	ENSP00000301067:S5476Y	S	-	2	0	MLL2	47702187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.753000	0.98904	2.492000	0.84095	0.550000	0.68814	TCC	.	.	none		0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49415920	G	T	49415920	3	4	11	1	0	0	0	0	1	0	0	0	9621	1174	41	4	194	4	MLL2	12	49415920	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	938488	49415920	84435975	316	2601	48	2								
MLL2	8085	hgsc.bcm.edu	37	chr12	49415922	49415922	+	Missense_Mutation	SNP	A	A	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acacagttaggggcacaggaAtggttaatgtacctgggcag							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:49415922A>T	ENST00000301067.7	-	53	16424	c.16425T>A	c.(16423-16425)caT>caA	p.H5475Q	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5475	S-adenosyl-L-methionine binding. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGCACAGGAATGGTTAATGT	0.507																																					p.H5475Q		Atlas-SNP	.											.	MLL2	1173	.	0			c.T16425A						PASS	.						159	154	156					12																	49415922		2065	4208	6273	SO:0001583	missense	8085	exon53			ACAGGAATGGTTA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16425T>A	12.37:g.49415922A>T	ENSP00000301067:p.His5475Gln	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	47	16	0.340426	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	a	12.42	1.932692	0.34096	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.99503	-6.03;-6.03	4.97	2.62	0.31277	SET domain (3);	0.000000	0.36740	N	0.002439	D	0.99704	0.9887	H	0.99732	4.735	0.47476	D	0.999434	D	0.89917	1.0	D	0.91635	0.999	D	0.97764	1.0222	10	0.87932	D	0	.	6.8531	0.24026	0.7287:0.0:0.2713:0.0	.	5475	O14686	MLL2_HUMAN	Q	5475;156	ENSP00000301067:H5475Q;ENSP00000435714:H156Q	ENSP00000301067:H5475Q	H	-	3	2	MLL2	47702189	0.942000	0.31987	1.000000	0.80357	0.995000	0.86356	0.105000	0.15333	0.877000	0.35895	0.450000	0.29827	CAT	.	.	none		0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49415922	A	T	49415922	3	4	11	1	0	0	0	0	1	0	0	0	9621	98	4	5	196	5	MLL2	12	49415922	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	2	49415922	84435973	317	2602	48	2								
MLL2	8085	hgsc.bcm.edu	37	chr12	49441815	49441816	+	Frame_Shift_Ins	INS	-	-	C													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcaaggaggtggccctctgINSccccccggccaaagctgcca							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:49441815_49441816insC	ENST00000301067.7	-	14	4167_4168	c.4168_4169insG	c.(4168-4170)gcafs	p.A1390fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1390					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGCCCTCTGCCCCCCGGCCA	0.564																																					p.A1390fs		Pindel,Atlas-Indel	.											.	MLL2	1173	.	0			c.4169_4170insG						PASS	.																																			SO:0001589	frameshift_variant	8085	exon14			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4169dupG	12.37:g.49441821_49441821dupC	ENSP00000301067:p.Ala1390fs	Somatic	67	.	.		WXS	Illumina HiSeq	Phase_I	55	17	0.309	NM_003482	O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.564	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49441816	-	C	49441815	7	5	11	1	0	1	1	0	0	0	0	0	9621	1319	46	0	12608	0	MLL2	12	49441815	Frame_Shift_Ins	INS	-	TCGA-FF-8042-01A-11D-2210-10	25893	49441815	84410080	318	2603										
TMPRSS12	283471	hgsc.bcm.edu	37	chr12	51237782	51237782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggaaccctagtgagagagagGtgggtcctcacagctgccca	14	11	1	2	rs374807523		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:51237782G>A	ENST00000398458.3	+	2	377	c.345G>A	c.(343-345)agG>agA	p.R115R	RN7SL519P_ENST00000497925.2_RNA|TMPRSS12_ENST00000551456.1_Silent_p.R115R	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	115	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TGAGAGAGAGGTGGGTCCTCA	0.498																																					p.R115R		Atlas-SNP	.											.	TMPRSS12	33	.	0			c.G345A						PASS	.	G		0,4136		0,0,2068	49	51	51		345	-2	0.2	12		51	2,8434		0,2,4216	no	coding-synonymous	TMPRSS12	NM_182559.2		0,2,6284	AA,AG,GG		0.0237,0.0,0.0159		115/349	51237782	2,12570	2068	4218	6286	SO:0001819	synonymous_variant	283471	exon2			AGAGAGGTGGGTC	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.345G>A	12.37:g.51237782G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_182559	B9ZVX2	Silent	SNP	ENST00000398458.3	37	CCDS44881.1																																																																																			.	.	weak		0.498	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		A	51237782	G	A	51237782	2	1	11	1	0	0	0	0	0	0	0	1	16241	1252	44	2		2	TMPRSS12	12	51237782	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1795967	51237782	82614113	319	2604										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52284881	52284881	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gggcatattgagcaagtgccTtcagtggctacaacccaggg	13	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:52284881T>C	ENST00000340970.4	+	6	1035				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.L384P|ANKRD33_ENST00000538991.1_Intron			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCAAGTGCCTTCAGTGGCTA	0.647																																					p.L384P		Atlas-SNP	.											.	ANKRD33	33	.	0			c.T1151C						PASS	.						62	54	57					12																	52284881		2203	4300	6503	SO:0001627	intron_variant	341405	exon5			AGTGCCTTCAGTG		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.665-89T>C	12.37:g.52284881T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	6	0.0508475	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	T	2.706	-0.269834	0.05716	.	.	ENSG00000167612	ENST00000301190	T	0.24908	1.83	4.48	2.53	0.30540	.	0.645195	0.15887	N	0.239728	T	0.13756	0.0333	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	9	0.26408	T	0.33	.	4.1627	0.10291	0.184:0.6209:0.0:0.1951	.	384	Q7Z3H0-2	.	P	384	ENSP00000301190:L384P	ENSP00000301190:L384P	L	+	2	0	ANKRD33	50571148	0.246000	0.23909	0.912000	0.35992	0.589000	0.36550	1.831000	0.39141	0.606000	0.29965	-0.337000	0.08149	CTT	.	.	none		0.647	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		C	52284881	T	C	52284881	1	2	11	0	1	0	0	0	0	0	0	0	661	1609	56	3		3	ANKRD33	12	52284881	Intron	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1047099	52284881	81567014	320	2605										
KRT5	3852	hgsc.bcm.edu	37	chr12	52909593	52909593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctacttacagatgttgactGgtccaactccttctccactg	7	13	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:52909593G>T	ENST00000252242.4	-	8	1853	c.1463C>A	c.(1462-1464)cCa>cAa	p.P488Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	488	Tail.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGTTGACTGGTCCAACTCC	0.398																																					p.P488Q		Atlas-SNP	.											KRT5,NS,carcinoma,0,1	KRT5	88	1	0			c.C1463A						scavenged	.						162	145	151					12																	52909593		2203	4300	6503	SO:0001583	missense	3852	exon8			TTGACTGGTCCAA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1463C>A	12.37:g.52909593G>T	ENSP00000252242:p.Pro488Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	121	2	0.0165289	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406723	0.42715	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.94650	-3.48	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000024	D	0.89536	0.6743	N	0.20845	0.615	0.32312	N	0.56356	B	0.20780	0.048	B	0.19946	0.027	D	0.87535	0.2455	10	0.40728	T	0.16	.	14.8167	0.70039	0.0:0.1431:0.8569:0.0	.	488	P13647	K2C5_HUMAN	Q	488;453	ENSP00000252242:P488Q	ENSP00000252242:P488Q	P	-	2	0	KRT5	51195860	0.007000	0.16637	1.000000	0.80357	0.999000	0.98932	1.544000	0.36158	2.824000	0.97209	0.655000	0.94253	CCA	.	.	none		0.398	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52909593	G	T	52909593	3	4	11	1	0	0	0	0	1	0	0	0	8479	1348	47	4	317	4	KRT5	12	52909593	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	624712	52909593	80942302	321	2606										
ERBB3	2065	hgsc.bcm.edu	37	chr12	56481846	56481846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtggagcctgtgtacctcgCtgtccacagcctcttgtcta	10	13	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:56481846C>T	ENST00000267101.3	+	7	1214	c.774C>T	c.(772-774)cgC>cgT	p.R258R	ERBB3_ENST00000415288.2_Silent_p.R199R|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	258					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTGTACCTCGCTGTCCACAGC	0.522																																					p.R258R		Atlas-SNP	.											ERBB3_ENST00000267101,NS,carcinoma,+2,2	ERBB3	350	2	0			c.C774T						scavenged	.						91	85	87					12																	56481846		2203	4300	6503	SO:0001819	synonymous_variant	2065	exon7			ACCTCGCTGTCCA	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.774C>T	12.37:g.56481846C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																			.	.	none		0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56481846	C	T	56481846	2	4	11	1	0	0	0	0	0	0	0	1	5208	784	28	2		2	ERBB3	12	56481846	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3572253	56481846	77370049	322	2607										
SLC35E3	55508	hgsc.bcm.edu	37	chr12	69140524	69140524	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccatccagaccttctgctacCagaaaaccttctccaccaga	4	17	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:69140524C>T	ENST00000398004.2	+	1	639	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	123						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTTCTGCTACCAGAAAACCTT	0.572																																					p.Q123X		Atlas-SNP	.											.	SLC35E3	23	.	0			c.C367T						PASS	.						109	115	114					12																	69140524		1955	4154	6109	SO:0001587	stop_gained	55508	exon1			TGCTACCAGAAAA	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.367C>T	12.37:g.69140524C>T	ENSP00000381089:p.Gln123*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_018656	A8K0T0|Q0P5Y5|Q9P0V1	Nonsense_Mutation	SNP	ENST00000398004.2	37	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615301	0.87359	.	.	ENSG00000175782	ENST00000398004	.	.	.	4.84	-4.92	0.03075	.	0.978663	0.08427	N	0.947515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.4926	11.8581	0.52451	0.1162:0.3976:0.4862:0.0	.	.	.	.	X	123	.	.	Q	+	1	0	SLC35E3	67426791	1.000000	0.71417	0.374000	0.26016	0.191000	0.23601	1.223000	0.32527	-0.906000	0.03866	-0.274000	0.10170	CAG	.	.	none		0.572	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		T	69140524	C	T	69140524	4	4	11	1	0	0	0	0	0	1	0	0	14586	595	21	2	369	2	SLC35E3	12	69140524	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	12658678	69140524	64711371	323	2608										
MYF6	4618	hgsc.bcm.edu	37	chr12	81101689	81101689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cggagaggaacatgtcctggCgcccccgggcctgcagcctc	14	16	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:81101689C>T	ENST00000228641.3	+	1	413	c.191C>T	c.(190-192)gCg>gTg	p.A64V		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	64					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A64V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CATGTCCTGGCGCCCCCGGGC	0.632																																					p.A64V		Atlas-SNP	.											MYF6,NS,carcinoma,0,1	MYF6	74	1	1	Substitution - Missense(1)	endometrium(1)	c.C191T						PASS	.						36	42	40					12																	81101689		2203	4300	6503	SO:0001583	missense	4618	exon1			TCCTGGCGCCCCC		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.191C>T	12.37:g.81101689C>T	ENSP00000228641:p.Ala64Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_002469	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653792	0.88056	.	.	ENSG00000111046	ENST00000228641	T	0.80909	-1.43	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.86881	0.2042	10	0.46703	T	0.11	.	19.6517	0.95819	0.0:1.0:0.0:0.0	.	64	P23409	MYF6_HUMAN	V	64	ENSP00000228641:A64V	ENSP00000228641:A64V	A	+	2	0	MYF6	79625820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.662000	0.90505	0.655000	0.94253	GCG	.	.	none		0.632	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		T	81101689	C	T	81101689	3	4	11	1	0	0	0	0	1	0	0	0	10028	768	27	1	193	1	MYF6	12	81101689	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11961165	81101689	52750206	324	2609										
SCYL2	55681	hgsc.bcm.edu	37	chr12	100729435	100729435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggaaatcaaatgaatgtttCtgaggagatgaaagttacaa	10	3	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:100729435C>T	ENST00000360820.2	+	15	2332	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	632					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATGAATGTTTCTGAGGAGATG	0.313																																					p.S632F		Atlas-SNP	.											SCYL2,caecum,carcinoma,+1,1	SCYL2	99	1	0			c.C1895T						scavenged	.						76	82	80					12																	100729435		2202	4298	6500	SO:0001583	missense	55681	exon15			ATGTTTCTGAGGA	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1895C>T	12.37:g.100729435C>T	ENSP00000354061:p.Ser632Phe	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	160	3	0.01875	NM_017988	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782040	0.70222	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.35236	1.7;1.32	5.27	5.27	0.74061	.	0.117691	0.64402	D	0.000011	T	0.49201	0.1543	M	0.73598	2.24	0.58432	D	0.999997	P	0.43662	0.814	P	0.47015	0.534	T	0.49331	-0.8951	10	0.42905	T	0.14	.	17.4212	0.87515	0.0:1.0:0.0:0.0	.	632	Q6P3W7	SCYL2_HUMAN	F	632	ENSP00000448366:S632F;ENSP00000354061:S632F	ENSP00000354061:S632F	S	+	2	0	SCYL2	99253566	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.728000	0.62000	2.601000	0.87937	0.655000	0.94253	TCT	.	.	none		0.313	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		T	100729435	C	T	100729435	3	4	11	1	0	0	0	0	1	0	0	0	13948	913	32	2	1949	2	SCYL2	12	100729435	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	19627746	100729435	33122460	325	2610										
SYCP3	50511	hgsc.bcm.edu	37	chr12	102131710	102131710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atacttttttccggaggacaCcatatttagatgcttcctga	7	9	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:102131710C>T	ENST00000392927.3	-	2	135	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	SYCP3_ENST00000392924.1_Missense_Mutation_p.V2M|SYCP3_ENST00000266743.2_Missense_Mutation_p.V2M	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	2					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCGGAGGACACCATATTTAGA	0.353																																					p.V2M		Atlas-SNP	.											.	SYCP3	19	.	0			c.G4A						PASS	.						142	143	143					12																	102131710		2203	4300	6503	SO:0001583	missense	50511	exon2			AGGACACCATATT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.4G>A	12.37:g.102131710C>T	ENSP00000376658:p.Val2Met	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	70	4	0.0571429	NM_001177949		Missense_Mutation	SNP	ENST00000392927.3	37	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589299	0.46214	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.23	3.36	0.38483	.	0.992267	0.08182	N	0.985316	T	0.36054	0.0953	L	0.46157	1.445	0.29107	N	0.881125	B	0.32653	0.379	B	0.28305	0.088	T	0.25293	-1.0136	9	0.36615	T	0.2	-46.7494	10.1367	0.42710	0.0:0.7867:0.1387:0.0746	.	2	Q8IZU3	SYCP3_HUMAN	M	2	.	ENSP00000266743:V2M	V	-	1	0	SYCP3	100655841	1.000000	0.71417	0.175000	0.22980	0.193000	0.23685	1.638000	0.37165	1.170000	0.42753	0.655000	0.94253	GTG	.	.	none		0.353	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		T	102131710	C	T	102131710	3	4	11	1	0	0	0	0	1	0	0	0	15431	507	18	2	738	2	SYCP3	12	102131710	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1402275	102131710	31720185	326	2611										
CHST11	50515	hgsc.bcm.edu	37	chr12	105150950	105150950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtcctgaccgggcgggggaAgtacagcgaccccatggaga	17	11	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:105150950A>C	ENST00000303694.5	+	3	867	c.428A>C	c.(427-429)aAg>aCg	p.K143T	CHST11_ENST00000549260.1_Missense_Mutation_p.K138T	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	143					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGGCGGGGGAAGTACAGCGAC	0.602																																					p.K143T		Atlas-SNP	.											.	CHST11	54	.	0			c.A428C						PASS	.						69	69	69					12																	105150950		2203	4300	6503	SO:0001583	missense	50515	exon3			GGGGGAAGTACAG	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.428A>C	12.37:g.105150950A>C	ENSP00000305725:p.Lys143Thr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	154	64	0.415584	NM_018413	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623524	0.46840	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73363	-0.74;-0.74;-0.74	5.42	5.42	0.78866	.	0.089513	0.85682	D	0.000000	T	0.66645	0.2810	L	0.33485	1.01	0.80722	D	1	P;P	0.43169	0.762;0.8	B;B	0.41988	0.255;0.372	T	0.65529	-0.6146	10	0.27785	T	0.31	-8.0608	15.4614	0.75359	1.0:0.0:0.0:0.0	.	138;143	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	T	138;143;103	ENSP00000450004:K138T;ENSP00000305725:K143T;ENSP00000449095:K103T	ENSP00000305725:K143T	K	+	2	0	CHST11	103675080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.355000	0.79434	2.065000	0.61736	0.533000	0.62120	AAG	.	.	none		0.602	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		C	105150950	A	C	105150950	3	2	11	1	0	0	0	0	1	0	0	0	3399	72	3	5	438	5	CHST11	12	105150950	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	3019240	105150950	28700945	327	2612										
RFX4	5992	hgsc.bcm.edu	37	chr12	107103190	107103190	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgacctcccagaaaacttgCgaaacatcaagttcgaatgt	7	11	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:107103190C>T	ENST00000392842.1	+	9	1330	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RFX4_ENST00000357881.4_Nonsense_Mutation_p.R315*|RFX4_ENST00000229387.5_Nonsense_Mutation_p.R212*|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	306					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R306*(1)|p.R315*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGAAAACTTGCGAAACATCAA	0.398																																					p.R315X		Atlas-SNP	.											RFX4_ENST00000357881,NS,carcinoma,0,5	RFX4	218	5	2	Substitution - Nonsense(2)	large_intestine(2)	c.C943T						scavenged	.						86	75	79					12																	107103190		2203	4300	6503	SO:0001587	stop_gained	5992	exon9			AACTTGCGAAACA	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.916C>T	12.37:g.107103190C>T	ENSP00000376585:p.Arg306*	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	56	2	0.0357143	NM_001206691	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	39	7.428677	0.98279	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	.	.	.	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-8.515	15.4125	0.74937	0.1443:0.8557:0.0:0.0	.	.	.	.	X	306;315;315;251;212	.	ENSP00000229387:R212X	R	+	1	2	RFX4	105627320	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	2.987000	0.49378	1.294000	0.44707	0.650000	0.86243	CGA	.	.	none		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		T	107103190	C	T	107103190	4	4	11	1	0	0	0	0	0	1	0	0	13265	760	27	1	1123	1	RFX4	12	107103190	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1952240	107103190	26748705	328	2613										
C12orf52	84934	hgsc.bcm.edu	37	chr12	113629195	113629195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgccagcttcggggccccgcGgatggcgaagggggatgccg	19	13	0	0	rs368110690	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:113629195G>A	ENST00000548278.1	+	4	1075	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	C12orf52_ENST00000549621.1_Missense_Mutation_p.R128Q|C12orf52_ENST00000552495.1_Missense_Mutation_p.R152Q|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		128	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)	p.R128Q(1)		large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGGGCCCCGCGGATGGCGAAG	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		14839	0.0		0.0	False		,,,				2504	0.0041				p.R128Q		Atlas-SNP	.											C12orf52,colon,carcinoma,0,1	C12orf52	19	1	1	Substitution - Missense(1)	large_intestine(1)	c.G383A						PASS	.	G	GLN/ARG	0,4406		0,0,2203	27	30	29		383	3.7	0	12		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf52	NM_032848.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	128/270	113629195	1,13005	2203	4300	6503	SO:0001583	missense	84934	exon4			CCCCGCGGATGGC																												ENST00000548278.1:c.383G>A	12.37:g.113629195G>A	ENSP00000449841:p.Arg128Gln	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	51	16	0.313726	NM_032848	B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	5.660	0.306471	0.10733	0.0	1.16E-4	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.32988	1.45;1.45;1.43	4.6	3.71	0.42584	.	0.364168	0.23708	N	0.045345	T	0.12603	0.0306	N	0.12182	0.205	0.09310	N	1	D;P;D	0.55800	0.973;0.951;0.973	B;B;B	0.35278	0.199;0.199;0.199	T	0.10776	-1.0615	10	0.26408	T	0.33	-2.164	8.434	0.32775	0.1057:0.0:0.8943:0.0	.	128;152;128	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	Q	128;128;152;128;128;125	ENSP00000448289:R128Q;ENSP00000449841:R128Q;ENSP00000448680:R152Q	ENSP00000266813:R125Q	R	+	2	0	C12orf52	112113578	0.993000	0.37304	0.023000	0.16930	0.004000	0.04260	2.374000	0.44274	1.151000	0.42436	-0.136000	0.14681	CGG	.	.	weak		0.642	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			A	113629195	G	A	113629195	3	1	11	1	0	0	0	0	1	0	0	0	1697	1116	39	1	389	1	C12orf52	12	113629195	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	6526005	113629195	20222700	329	2614										
ARL6IP4	23457	hgsc.bcm.edu	37	chr12	123465786	123465786	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagcaggaaagacacctcgAggaactgctcggcctccaca	11	13	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:123465786A>G	ENST00000542678.1	-	0	410				ARL6IP4_ENST00000426960.2_Missense_Mutation_p.R34G|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.R157G|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.R157G|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.R34G|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.R34G|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.R157G|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.R34G|ARL6IP4_ENST00000357866.4_Missense_Mutation_p.R34G|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.R157G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGACACCTCGAGGAACTGCTC	0.657																																					p.R157G	Ovarian(49;786 1333 9175 38236)	Atlas-SNP	.											ARL6IP4,NS,carcinoma,-2,1	ARL6IP4	14	1	0			c.A469G						PASS	.						48	42	44					12																	123465786		1879	3582	5461	SO:0001623	5_prime_UTR_variant	51329	exon2			ACCTCGAGGAACT	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.-2429T>C	12.37:g.123465786A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	139	45	0.323741	NM_018694	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397855	0.42512	.	.	ENSG00000182196	ENST00000544323;ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000412505;ENST00000439686;ENST00000456762;ENST00000357866	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	1.13;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.73;0.54;0.54;0.76	4.73	-2.5	0.06384	.	1.340920	0.05558	N	0.568681	T	0.47820	0.1466	M	0.66939	2.045	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.002;0.002;0.002;0.002	B;B;B;B;B;B	0.12156	0.001;0.001;0.006;0.007;0.007;0.004	T	0.47749	-0.9093	10	0.56958	D	0.05	.	5.3709	0.16138	0.3465:0.3857:0.2678:0.0	.	34;157;157;157;157;157	B3V0L1;Q66PJ3-5;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;.;AR6P4_HUMAN;.	G	157;157;157;157;157;34;34;157;34;34;34;35;34	ENSP00000445309:R157G;ENSP00000442718:R157G;ENSP00000313422:R157G;ENSP00000442200:R157G;ENSP00000376230:R157G;ENSP00000441406:R34G;ENSP00000406036:R34G;ENSP00000414847:R157G;ENSP00000396723:R34G;ENSP00000413132:R34G;ENSP00000396365:R34G;ENSP00000391598:R35G;ENSP00000350532:R34G	ENSP00000313422:R157G	R	+	1	2	ARL6IP4	122031739	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.197000	0.17197	-0.238000	0.09724	0.444000	0.29173	AGG	.	.	none		0.657	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		G	123465786	A	G	123465786	1	3	11	0	1	0	0	0	0	0	0	0	943	295	11	3		3	ARL6IP4	12	123465786	5'UTR	SNP	A	TCGA-FF-8042-01A-11D-2210-10	9836591	123465786	10386109	330	2615										
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130926675	130926675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caggtgggagggggccaccaCcacgtccttgcccaccagca	13	16	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr12:130926675C>T	ENST00000261655.4	-	8	1334	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V299M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V299M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	391					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGGCCACCACCACGTCCTTG	0.637																																					p.V391M		Atlas-SNP	.											RIMBP2,colon,carcinoma,+2,1	RIMBP2	220	1	0			c.G1171A						PASS	.						106	89	94					12																	130926675		2203	4300	6503	SO:0001583	missense	23504	exon8			CCACCACCACGTC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1171G>A	12.37:g.130926675C>T	ENSP00000261655:p.Val391Met	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	127	52	0.409449	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	15.13	2.743213	0.49151	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54071	0.59;0.59;0.59	4.23	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.305389	0.30483	N	0.009533	T	0.53174	0.1780	L	0.57536	1.79	0.33880	D	0.636045	P;P;P	0.43477	0.664;0.745;0.808	B;P;B	0.51516	0.388;0.672;0.391	T	0.61118	-0.7127	10	0.30078	T	0.28	-23.0745	5.5813	0.17250	0.0:0.6862:0.0:0.3138	.	299;299;391	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	391;299;299;299	ENSP00000261655:V391M;ENSP00000440347:V299M;ENSP00000439159:V299M	ENSP00000261655:V391M	V	-	1	0	RIMBP2	129492628	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.020000	0.49643	1.867000	0.54127	0.537000	0.68136	GTG	.	.	none		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130926675	C	T	130926675	3	4	11	1	0	0	0	0	1	0	0	0	13363	507	18	2	2035	2	RIMBP2	12	130926675	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7460889	130926675	2925220	331	2616										
SACS	26278	hgsc.bcm.edu	37	chr13	23908805	23908805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcagtttcatcacagttataAaccaagttgaaaccaatttc	5	9	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:23908805A>G	ENST00000382292.3	-	9	9483	c.9210T>C	c.(9208-9210)gtT>gtC	p.V3070V	SACS_ENST00000402364.1_Silent_p.V2320V|SACS_ENST00000382298.3_Silent_p.V3070V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3070					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACAGTTATAAACCAAGTTGA	0.343																																					p.V3070V		Atlas-SNP	.											.	SACS	871	.	0			c.T9210C						PASS	.						97	91	93					13																	23908805		2203	4300	6503	SO:0001819	synonymous_variant	26278	exon10			GTTATAAACCAAG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9210T>C	13.37:g.23908805A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	117	46	0.393162	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			.	.	none		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23908805	A	G	23908805	2	3	11	1	0	0	0	0	0	0	0	1	13804	1	1	2		2	SACS	13	23908805	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10		23908805	91261073	332	2617										
MIPEP	4285	hgsc.bcm.edu	37	chr13	24436455	24436455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acttacggaattttgaggatTcagtttcattttcatccctc	6	9	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:24436455T>C	ENST00000382172.3	-	9	1137	c.1039A>G	c.(1039-1041)Aat>Gat	p.N347D		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	347					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTTTGAGGATTCAGTTTCATT	0.279																																					p.N347D		Atlas-SNP	.											.	MIPEP	53	.	0			c.A1039G						PASS	.						47	43	44					13																	24436455		2196	4289	6485	SO:0001583	missense	4285	exon9			GAGGATTCAGTTT		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1039A>G	13.37:g.24436455T>C	ENSP00000371607:p.Asn347Asp	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	133	48	0.360902	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808264	0.70797	.	.	ENSG00000027001	ENST00000382172	T	0.07908	3.15	4.79	4.79	0.61399	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.67953	2.075	0.45747	D	0.998648	P	0.42296	0.775	P	0.48873	0.593	T	0.00670	-1.1617	10	0.42905	T	0.14	.	14.4368	0.67287	0.0:0.0:0.0:1.0	.	347	Q99797	MIPEP_HUMAN	D	347	ENSP00000371607:N347D	ENSP00000371607:N347D	N	-	1	0	MIPEP	23334455	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.106000	0.71511	2.132000	0.65825	0.533000	0.62120	AAT	.	.	none		0.279	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			C	24436455	T	C	24436455	3	2	11	1	0	0	0	0	1	0	0	0	9592	1783	62	2	1146	2	MIPEP	13	24436455	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	527650	24436455	90733423	333	2618										
CCNA1	8900	hgsc.bcm.edu	37	chr13	37011846	37011846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaagcactccctgactgtggGgtccaagagccccccaagca	10	15	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:37011846G>A	ENST00000255465.4	+	3	642	c.378G>A	c.(376-378)ggG>ggA	p.G126G	CCNA1_ENST00000418263.1_Silent_p.G125G|CCNA1_ENST00000440264.1_Silent_p.G82G|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Silent_p.G82G			P78396	CCNA1_HUMAN	cyclin A1	126					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGACTGTGGGGTCCAAGAGC	0.498																																					p.G126G		Atlas-SNP	.											CCNA1,NS,carcinoma,+1,1	CCNA1	91	1	0			c.G378A						scavenged	.						83	89	87					13																	37011846		2203	4300	6503	SO:0001819	synonymous_variant	8900	exon3			CTGTGGGGTCCAA	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.378G>A	13.37:g.37011846G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	77	2	0.025974	NM_003914	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																			.	.	none		0.498	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37011846	G	A	37011846	2	1	11	1	0	0	0	0	0	0	0	1	2909	1219	43	2		2	CCNA1	13	37011846	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	12575391	37011846	78158032	334	2619										
FREM2	341640	hgsc.bcm.edu	37	chr13	39263849	39263849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaattgcttacagacccccgGgtcaagaactgggcgtggct	12	11	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:39263849G>A	ENST00000280481.7	+	1	2584	c.2368G>A	c.(2368-2370)Ggt>Agt	p.G790S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	790					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G790S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGACCCCCGGGTCAAGAACT	0.542																																					p.G790S		Atlas-SNP	.											FREM2,arm,malignant_melanoma,0,1	FREM2	385	1	1	Substitution - Missense(1)	skin(1)	c.G2368A						scavenged	.						60	64	63					13																	39263849		2203	4300	6503	SO:0001583	missense	341640	exon1			CCCCCGGGTCAAG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2368G>A	13.37:g.39263849G>A	ENSP00000280481:p.Gly790Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	76	2	0.0263158	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	1.132	-0.652246	0.03480	.	.	ENSG00000150893	ENST00000280481	T	0.16324	2.35	5.8	4.01	0.46588	.	0.256592	0.42964	N	0.000636	T	0.08802	0.0218	N	0.19112	0.55	0.35280	D	0.781262	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	10	0.07175	T	0.84	.	8.0322	0.30472	0.1543:0.1388:0.7069:0.0	.	790	Q5SZK8	FREM2_HUMAN	S	790	ENSP00000280481:G790S	ENSP00000280481:G790S	G	+	1	0	FREM2	38161849	1.000000	0.71417	0.962000	0.40283	0.158000	0.22134	4.522000	0.60539	0.747000	0.32809	0.655000	0.94253	GGT	.	.	none		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39263849	G	A	39263849	3	1	11	1	0	0	0	0	1	0	0	0	6045	1232	43	2	2370	2	FREM2	13	39263849	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2252003	39263849	75906029	335	2620										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39587314	39587314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaggaagagcagtgaatactGgtgcaatgggagtggaggaa	17	3	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:39587314G>A	ENST00000352251.3	-	11	2908	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L	PROSER1_ENST00000350125.3_Missense_Mutation_p.P670L|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	692	Ser-rich.							p.P692L(1)									AGTGAATACTGGTGCAATGGG	0.438																																					p.P692L		Atlas-SNP	.											C13orf23,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	kidney(1)	c.C2075T						scavenged	.						129	129	129					13																	39587314		2203	4300	6503	SO:0001583	missense	80209	exon11			AATACTGGTGCAA	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2075C>T	13.37:g.39587314G>A	ENSP00000332034:p.Pro692Leu	Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	107	2	0.0186916	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436928	0.43224	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.34667	1.36;1.35	5.27	4.42	0.53409	.	.	.	.	.	T	0.47930	0.1472	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38542	-0.9656	8	.	.	.	-13.7911	14.7268	0.69351	0.0:0.0:0.8541:0.1459	.	670;692	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	692;670	ENSP00000332034:P692L;ENSP00000339123:P670L	.	P	-	2	0	PROSER1	38485314	0.998000	0.40836	0.045000	0.18777	0.188000	0.23474	4.754000	0.62191	1.340000	0.45581	-0.310000	0.09108	CCA	.	.	none		0.438	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39587314	G	A	39587314	3	1	11	1	0	0	0	0	1	0	0	0	1721	1348	47	2	771	2	C13orf23	13	39587314	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	323465	39587314	75582564	336	2621										
NHLRC3	387921	hgsc.bcm.edu	37	chr13	39621247	39621247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactggggagtggttaggagCatggaataattgtttcacag	14	5	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:39621247C>T	ENST00000379600.3	+	6	1071	c.749C>T	c.(748-750)gCa>gTa	p.A250V	NHLRC3_ENST00000379599.2_Missense_Mutation_p.A183V|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A53V	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	250						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TGGTTAGGAGCATGGAATAAT	0.373																																					p.A250V		Atlas-SNP	.											NHLRC3,NS,carcinoma,+1,1	NHLRC3	35	1	0			c.C749T						scavenged	.						147	149	148					13																	39621247		2203	4300	6503	SO:0001583	missense	387921	exon6			TAGGAGCATGGAA		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.749C>T	13.37:g.39621247C>T	ENSP00000368920:p.Ala250Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_001012754	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075685	0.36662	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.89552	-2.53;-2.53;-2.53	5.68	-0.538	0.11868	Six-bladed beta-propeller, TolB-like (1);	0.834567	0.11281	N	0.580320	D	0.83087	0.5178	L	0.50333	1.59	0.09310	N	1	B;B	0.23442	0.085;0.062	B;B	0.25140	0.039;0.058	T	0.67883	-0.5555	9	.	.	.	-0.6607	7.3706	0.26800	0.5786:0.2893:0.0:0.1321	.	183;250	B4DTL0;Q5JS37	.;NHLC3_HUMAN	V	53;250;183	ENSP00000418127:A53V;ENSP00000368920:A250V;ENSP00000368919:A183V	.	A	+	2	0	NHLRC3	38519247	0.003000	0.15002	0.079000	0.20413	0.985000	0.73830	0.919000	0.28692	-0.121000	0.11787	0.563000	0.77884	GCA	.	.	none		0.373	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		T	39621247	C	T	39621247	3	4	11	1	0	0	0	0	1	0	0	0	10407	710	25	2	771	2	NHLRC3	13	39621247	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	33933	39621247	75548631	337	2622										
ENOX1	55068	hgsc.bcm.edu	37	chr13	43987001	43987001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgcagccatcatctgaggaAgctcctggggaagctgggtg	15	10	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:43987001A>G	ENST00000261488.6	-	4	627	c.50T>C	c.(49-51)cTt>cCt	p.L17P	ENOX1_ENST00000412891.1_Missense_Mutation_p.L17P	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	17					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CATCTGAGGAAGCTCCTGGGG	0.493																																					p.L17P		Atlas-SNP	.											.	ENOX1	158	.	0			c.T50C						PASS	.						126	112	116					13																	43987001		2203	4300	6503	SO:0001583	missense	55068	exon4			TGAGGAAGCTCCT	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.50T>C	13.37:g.43987001A>G	ENSP00000261488:p.Leu17Pro	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	64	22	0.34375	NM_017993	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452066	0.43531	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48201	0.82;0.82	5.91	5.91	0.95273	.	0.312364	0.26594	N	0.023508	T	0.27098	0.0664	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11348	-1.0591	10	0.32370	T	0.25	-3.7208	10.059	0.42263	0.9229:0.0:0.0771:0.0	.	17	Q8TC92	ENOX1_HUMAN	P	17	ENSP00000261488:L17P;ENSP00000415054:L17P	ENSP00000261488:L17P	L	-	2	0	ENOX1	42885001	0.998000	0.40836	0.997000	0.53966	0.989000	0.77384	2.011000	0.40922	2.254000	0.74563	0.533000	0.62120	CTT	.	.	none		0.493	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		G	43987001	A	G	43987001	3	3	11	1	0	0	0	0	1	0	0	0	5126	72	3	3	1937	3	ENOX1	13	43987001	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	4365754	43987001	71182877	338	2623										
GPC6	10082	hgsc.bcm.edu	37	chr13	93879792	93879792	+	Missense_Mutation	SNP	G	G	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cggggcggatgtgaaggctcGgagctgcggagaggtccgcc							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:93879792G>T	ENST00000377047.4	+	1	698	c.83G>T	c.(82-84)cGg>cTg	p.R28L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	28					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTGAAGGCTCGGAGCTGCGGA	0.652											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R28L		Atlas-SNP	.											.	GPC6	102	.	0			c.G83T						PASS	.						76	75	75					13																	93879792		2203	4300	6503	SO:0001583	missense	10082	exon1			AGGCTCGGAGCTG	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.83G>T	13.37:g.93879792G>T	ENSP00000366246:p.Arg28Leu	Somatic	87	0	0	1301	WXS	Illumina HiSeq	Phase_I	66	26	0.393939	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074921	0.76415	.	.	ENSG00000183098	ENST00000377047	T	0.53206	0.63	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000084	T	0.54581	0.1867	M	0.74467	2.265	0.42422	D	0.992645	B;B	0.22080	0.021;0.064	B;B	0.31686	0.019;0.134	T	0.51733	-0.8668	10	0.25751	T	0.34	.	19.0471	0.93025	0.0:0.0:1.0:0.0	.	28;28	B4E2M1;Q9Y625	.;GPC6_HUMAN	L	28	ENSP00000366246:R28L	ENSP00000366246:R28L	R	+	2	0	GPC6	92677793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.124000	0.77185	2.604000	0.88044	0.655000	0.94253	CGG	.	.	none		0.652	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		T	93879792	G	T	93879792	3	4	11	1	0	0	0	0	1	0	0	0	6602	1116	39	4	85	4	GPC6	13	93879792	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	49892791	93879792	21290086	339	2624	49	2								
GPC6	10082	hgsc.bcm.edu	37	chr13	93879793	93879793	+	Silent	SNP	G	G	T													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggggcggatgtgaaggctcgGagctgcggagaggtccgcca							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr13:93879793G>T	ENST00000377047.4	+	1	699	c.84G>T	c.(82-84)cgG>cgT	p.R28R		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	28					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGAAGGCTCGGAGCTGCGGAG	0.652											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R28R		Atlas-SNP	.											.	GPC6	102	.	0			c.G84T						PASS	.						75	74	74					13																	93879793		2203	4300	6503	SO:0001819	synonymous_variant	10082	exon1			GGCTCGGAGCTGC	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.84G>T	13.37:g.93879793G>T		Somatic	86	0	0	1301	WXS	Illumina HiSeq	Phase_I	66	26	0.393939	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	CCDS9469.1																																																																																			.	.	none		0.652	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		T	93879793	G	T	93879793	2	4	11	1	0	0	0	0	0	0	0	1	6602	1161	41	4		4	GPC6	13	93879793	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1	93879793	21290085	340	2625	49	2								
MYH6	4624	hgsc.bcm.edu	37	chr14	23851691	23851691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttgttgacctgggactcagcGatgtccgcccgctcctctgc	11	15	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:23851691G>A	ENST00000356287.3	-	37	5771	c.5742C>T	c.(5740-5742)atC>atT	p.I1914I	MYH6_ENST00000405093.3_Silent_p.I1914I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1914					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.I1914I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGACTCAGCGATGTCCGCCC	0.592																																					p.I1914I		Atlas-SNP	.											MYH6,rectum,carcinoma,0,1	MYH6	274	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C5742T						scavenged	.						180	158	165					14																	23851691		2203	4300	6503	SO:0001819	synonymous_variant	4624	exon38			CTCAGCGATGTCC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5742C>T	14.37:g.23851691G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	193	2	0.0103627	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			.	.	none		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23851691	G	A	23851691	2	1	11	1	0	0	0	0	0	0	0	1	10038	1048	37	1		1	MYH6	14	23851691	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10		23851691	83497849	341	2626										
LRRC16B	90668	hgsc.bcm.edu	37	chr14	24534335	24534335	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcctcctccctccacccccAccccctcccccgactcagga	3	27	1	0	rs8020089		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:24534335A>C	ENST00000342740.5	+	33	3403	c.3249A>C	c.(3247-3249)ccA>ccC	p.P1083P	LRRC16B_ENST00000334420.7_Silent_p.P179P	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1083	Pro-rich.					cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTCCACCCCCACCCCCTCCCC	0.701																																					p.P1083P		Atlas-SNP	.											LRRC16B,NS,carcinoma,0,1	LRRC16B	120	1	0			c.A3249C						scavenged	.						3	4	4					14																	24534335		1256	2763	4019	SO:0001819	synonymous_variant	90668	exon33			ACCCCCACCCCCT	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3249A>C	14.37:g.24534335A>C		Somatic	70	18	0.257143		WXS	Illumina HiSeq	Phase_I	66	21	0.318182	NM_138360	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																			.	.	weak		0.701	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		C	24534335	A	C	24534335	2	2	11	1	0	0	0	0	0	0	0	1	8972	146	6	5		5	LRRC16B	14	24534335	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	682644	24534335	82815205	342	2627										
NYNRIN	57523	hgsc.bcm.edu	37	chr14	24879175	24879175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caggctggaaggcagggtccCcagtccagtggcaccttggc	15	13	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:24879175C>T	ENST00000382554.3	+	4	2493	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	725					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCAGGGTCCCCAGTCCAGTG	0.627																																					p.P725P		Atlas-SNP	.											NYNRIN,colon,carcinoma,0,1	NYNRIN	120	1	0			c.C2175T						scavenged	.						25	29	28					14																	24879175		1967	4144	6111	SO:0001819	synonymous_variant	57523	exon4			GGGTCCCCAGTCC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2175C>T	14.37:g.24879175C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	181	2	0.0110497	NM_025081	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																			.	.	none		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24879175	C	T	24879175	2	4	11	1	0	0	0	0	0	0	0	1	10796	610	22	2		2	NYNRIN	14	24879175	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	344840	24879175	82470365	343	2628										
G2E3	55632	hgsc.bcm.edu	37	chr14	31066658	31066658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aatgcgggagtgtttttcttTaggtgtacaatatgcaataa	10	4	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:31066658T>G	ENST00000206595.6	+	7	715	c.561T>G	c.(559-561)ttT>ttG	p.F187L	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.F141L|G2E3_ENST00000553504.1_Missense_Mutation_p.F217L	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	187					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTTTCTTTAGGTGTACAA	0.308																																					p.F187L		Atlas-SNP	.											.	G2E3	82	.	0			c.T561G						PASS	.						150	167	161					14																	31066658		2203	4299	6502	SO:0001583	missense	55632	exon7			TTTCTTTAGGTGT	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.561T>G	14.37:g.31066658T>G	ENSP00000206595:p.Phe187Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	206	59	0.286408	NM_017769	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396616	0.83011	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.69040	-0.37;-0.37;-0.37	5.67	0.657	0.17850	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	L	0.55834	1.745	0.48341	D	0.999638	D;D	0.69078	0.973;0.997	P;D	0.75020	0.786;0.985	T	0.70513	-0.4851	10	0.48119	T	0.1	-22.4009	10.3259	0.43793	0.0:0.2489:0.0:0.7511	.	141;187	B4DIF9;Q7L622	.;G2E3_HUMAN	L	187;141;217	ENSP00000206595:F187L;ENSP00000391068:F141L;ENSP00000451653:F217L	ENSP00000206595:F187L	F	+	3	2	G2E3	30136409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.630000	0.24553	0.170000	0.19704	0.482000	0.46254	TTT	.	.	none		0.308	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		G	31066658	T	G	31066658	3	3	11	1	0	0	0	0	1	0	0	0	6140	1751	61	5	583	5	G2E3	14	31066658	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	6187483	31066658	76282882	344	2629										
LRFN5	145581	hgsc.bcm.edu	37	chr14	42356853	42356853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtgtatgataacggaacacTtgacattcttatcacaactg	8	8	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:42356853T>G	ENST00000298119.4	+	3	2214	c.1025T>G	c.(1024-1026)cTt>cGt	p.L342R	LRFN5_ENST00000554171.1_Missense_Mutation_p.L342R|LRFN5_ENST00000554120.1_Missense_Mutation_p.L342R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	342	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACGGAACACTTGACATTCTT	0.423										HNSCC(30;0.082)																											p.L342R		Atlas-SNP	.											LRFN5,NS,carcinoma,-1,2	LRFN5	269	2	0			c.T1025G						PASS	.						120	118	119					14																	42356853		2203	4300	6503	SO:0001583	missense	145581	exon3			GAACACTTGACAT	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1025T>G	14.37:g.42356853T>G	ENSP00000298119:p.Leu342Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	135	39	0.288889	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116036	0.56505	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.90004	-2.6;-2.6;-2.6	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000117	D	0.96552	0.8875	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.982	D	0.97779	1.0231	10	0.87932	D	0	.	13.6708	0.62424	0.0:0.0:0.0:1.0	.	342;342	G3V364;Q96NI6	.;LRFN5_HUMAN	R	342	ENSP00000298119:L342R;ENSP00000451897:L342R;ENSP00000451067:L342R	ENSP00000298119:L342R	L	+	2	0	LRFN5	41426603	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.997000	0.88414	2.165000	0.68154	0.460000	0.39030	CTT	.	.	none		0.423	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356853	T	G	42356853	3	3	11	1	0	0	0	0	1	0	0	0	8941	1609	56	5	1027	5	LRFN5	14	42356853	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	11290195	42356853	64992687	345	2630										
MDGA2	161357	hgsc.bcm.edu	37	chr14	47530650	47530650	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	taatggacgaccatttttaaAccaactaaatgttagctcct	5	9	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:47530650A>C	ENST00000399232.2	-	7	1484	c.1120T>G	c.(1120-1122)Ttt>Gtt	p.F374V	MDGA2_ENST00000357362.3_Missense_Mutation_p.F145V|MDGA2_ENST00000426342.1_Missense_Mutation_p.F145V|MDGA2_ENST00000439988.3_Missense_Mutation_p.F443V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	374	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCATTTTTAAACCAACTAAAT	0.413																																					p.F443V		Atlas-SNP	.											.	MDGA2	470	.	0			c.T1327G						PASS	.						128	115	119					14																	47530650		1882	4103	5985	SO:0001583	missense	161357	exon7			TTTTAAACCAACT	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1120T>G	14.37:g.47530650A>C	ENSP00000382178:p.Phe374Val	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	228	53	0.232456	NM_001113498	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.91|13.91	2.376692|2.376692	0.42105|0.42105	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88|.	5.96|5.96	4.81|4.81	0.61882|0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.53938|.	U|.	0.000054|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	P|.	0.41848|.	0.763|.	P|.	0.49421|.	0.61|.	T|T	0.55490|0.55490	-0.8133|-0.8133	10|5	0.42905|.	T|.	0.14|.	.|.	12.4319|12.4319	0.55578|0.55578	0.8597:0.1403:0.0:0.0|0.8597:0.1403:0.0:0.0	.|.	374|.	Q7Z553|.	MDGA2_HUMAN|.	V|G	374;145;443;145|148	ENSP00000400011:F374V;ENSP00000405456:F145V;ENSP00000382178:F443V;ENSP00000349925:F145V|.	ENSP00000349925:F145V|.	F|V	-|-	1|2	0|0	MDGA2|MDGA2	46600400|46600400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.511000|5.511000	0.67024|0.67024	1.061000|1.061000	0.40601|0.40601	0.533000|0.533000	0.62120|0.62120	TTT|GTT	.	.	none		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		C	47530650	A	C	47530650	3	2	11	1	0	0	0	0	1	0	0	0	9407	43	2	5	1794	5	MDGA2	14	47530650	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	5173797	47530650	59818890	346	2631										
PYGL	5836	hgsc.bcm.edu	37	chr14	51378473	51378473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcagcaagagatactctgtaGttctccaagaagatgacttt	8	8	3	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:51378473G>A	ENST00000216392.7	-	16	2276	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.N614N|PYGL_ENST00000532462.1_Silent_p.N648N	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	648					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ATACTCTGTAGTTCTCCAAGA	0.438																																					p.N648N		Atlas-SNP	.											.	PYGL	77	.	0			c.C1944T						PASS	.						86	78	81					14																	51378473		2203	4300	6503	SO:0001819	synonymous_variant	5836	exon16			TCTGTAGTTCTCC		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1944C>T	14.37:g.51378473G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	212	56	0.264151	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																			.	.	none		0.438	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		A	51378473	G	A	51378473	2	1	11	1	0	0	0	0	0	0	0	1	12861	1020	36	2		2	PYGL	14	51378473	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	3847823	51378473	55971067	347	2632										
PCNX	22990	hgsc.bcm.edu	37	chr14	71514637	71514637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtgctgtttttcaaatttgActatgaagctttttcagaga	8	5	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:71514637A>G	ENST00000304743.2	+	22	4720	c.4274A>G	c.(4273-4275)gAc>gGc	p.D1425G	PCNX_ENST00000238570.5_Missense_Mutation_p.D1425G|PCNX_ENST00000439984.3_Missense_Mutation_p.D1314G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1425						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTCAAATTTGACTATGAAGCT	0.358																																					p.D1425G		Atlas-SNP	.											PCNX,NS,carcinoma,+1,1	PCNX	198	1	0			c.A4274G						scavenged	.						171	153	159					14																	71514637		2202	4300	6502	SO:0001583	missense	22990	exon22			AATTTGACTATGA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4274A>G	14.37:g.71514637A>G	ENSP00000304192:p.Asp1425Gly	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	378	5	0.0132275	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.45|17.45	3.392778|3.392778	0.62066|0.62066	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.17528|.	2.74;2.27;2.41|.	5.32|5.32	4.16|4.16	0.48862|0.48862	.|.	0.147268|.	0.64402|.	N|.	0.000010|.	T|T	0.77831|0.77831	0.4189|0.4189	M|M	0.88775|0.88775	2.98|2.98	0.58432|0.58432	D|D	0.999999|0.999999	B;P;B|.	0.34780|.	0.016;0.468;0.009|.	B;B;B|.	0.32533|.	0.024;0.147;0.011|.	T|T	0.79769|0.79769	-0.1664|-0.1664	10|5	0.51188|.	T|.	0.08|.	.|.	11.3901|11.3901	0.49809|0.49809	0.9285:0.0:0.0715:0.0|0.9285:0.0:0.0715:0.0	.|.	1425;1314;1425|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	G|A	1425;1425;1314|484	ENSP00000304192:D1425G;ENSP00000238570:D1425G;ENSP00000396617:D1314G|.	ENSP00000238570:D1425G|.	D|T	+|+	2|1	0|0	PCNX|PCNX	70584390|70584390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.287000|9.287000	0.95975|0.95975	0.951000|0.951000	0.37770|0.37770	0.482000|0.482000	0.46254|0.46254	GAC|ACT	.	.	none		0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71514637	A	G	71514637	3	3	11	1	0	0	0	0	1	0	0	0	11591	275	10	2	4360	2	PCNX	14	71514637	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	20136164	71514637	35834903	348	2633										
RGS6	9628	hgsc.bcm.edu	37	chr14	72976974	72976974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcctggagtccgaattcagtTcagaaaacctcaggtaaatc	8	10	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:72976974T>C	ENST00000553530.1	+	14	1285	c.1078T>C	c.(1078-1080)Tca>Cca	p.S360P	RGS6_ENST00000553525.1_Missense_Mutation_p.S360P|RGS6_ENST00000343854.6_Missense_Mutation_p.S323P|RGS6_ENST00000355512.6_Missense_Mutation_p.S360P|RGS6_ENST00000434263.2_Missense_Mutation_p.S291P|RGS6_ENST00000402788.2_Missense_Mutation_p.S360P|RGS6_ENST00000404301.2_Missense_Mutation_p.S360P|RGS6_ENST00000407322.4_Missense_Mutation_p.S360P|RGS6_ENST00000406236.4_Missense_Mutation_p.S360P|RGS6_ENST00000554782.1_Missense_Mutation_p.S221P|RGS6_ENST00000556437.1_Missense_Mutation_p.S360P|RGS6_ENST00000555571.1_Missense_Mutation_p.S360P	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	360	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CGAATTCAGTTCAGAAAACCT	0.458																																					p.S360P	Ovarian(143;1926 2468 21071 48641)	Atlas-SNP	.											.	RGS6	92	.	0			c.T1078C						PASS	.						89	100	96					14																	72976974		2203	4300	6503	SO:0001583	missense	9628	exon14			TTCAGTTCAGAAA	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1078T>C	14.37:g.72976974T>C	ENSP00000452331:p.Ser360Pro	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	31	0.344444	NM_001204424	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188405	0.78789	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.72	5.72	0.89469	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.999;0.973;1.0;0.971	T	0.00110	-1.2048	10	0.62326	D	0.03	-9.758	16.2988	0.82793	0.0:0.0:0.0:1.0	.	291;360;365;360	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	P	360;360;360;360;360;360;360;360;360;323;332;291;221;221	ENSP00000451030:S360P;ENSP00000450936:S360P;ENSP00000452331:S360P;ENSP00000451855:S360P;ENSP00000347699:S360P;ENSP00000385243:S360P;ENSP00000384218:S360P;ENSP00000384612:S360P;ENSP00000383953:S360P;ENSP00000341199:S323P;ENSP00000412144:S291P;ENSP00000451912:S221P	ENSP00000341199:S323P	S	+	1	0	RGS6	72046727	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	7.997000	0.88414	2.311000	0.77944	0.533000	0.62120	TCA	.	.	none		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			C	72976974	T	C	72976974	3	2	11	1	0	0	0	0	1	0	0	0	13309	1783	62	2	1128	2	RGS6	14	72976974	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1462337	72976974	34372566	349	2634										
ACOT4	122970	hgsc.bcm.edu	37	chr14	74058832	74058832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgcgctactgcgccgacgccCgcggcgagctggacctggag	16	16	0	0	rs3742819	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:74058832C>T	ENST00000326303.4	+	1	423	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	57			R -> C (in dbSNP:rs3742819). {ECO:0000269|PubMed:15489334}.		acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CGCCGACGCCCGCGGCGAGCT	0.761													C|||	1988	0.396965	0.1059	0.513	5008	,	,		12914	0.629		0.3926	False		,,,				2504	0.4734				p.R57C		Atlas-SNP	.											.	ACOT4	25	.	0			c.C169T						PASS	.	C	CYS/ARG	496,3446		38,420,1513	6	7	6		169	-9.9	0	14	dbSNP_107	6	2402,5202		412,1578,1812	no	missense	ACOT4	NM_152331.3	180	450,1998,3325	TT,TC,CC		31.5886,12.5824,25.0996	possibly-damaging	57/422	74058832	2898,8648	1971	3802	5773	SO:0001583	missense	122970	exon1			GACGCCCGCGGCG	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.169C>T	14.37:g.74058832C>T	ENSP00000323071:p.Arg57Cys	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_152331	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	CCDS9817.1	873	0.39972527472527475	60	0.12195121951219512	175	0.48342541436464087	366	0.6398601398601399	272	0.35883905013192613	C	13.86	2.362653	0.41902	0.125824	0.315886	ENSG00000177465	ENST00000326303	T	0.70516	-0.49	4.93	-9.85	0.00476	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	2.024500	0.02238	N	0.065442	T	0.00012	0.0000	L	0.53249	1.67	0.80722	P	0.0	P	0.51351	0.944	P	0.53954	0.738	T	0.48536	-0.9027	9	0.56958	D	0.05	-7.9166	15.5626	0.76262	0.2094:0.6193:0.1713:0.0	rs3742819	57	Q8N9L9	ACOT4_HUMAN	C	57	ENSP00000323071:R57C	ENSP00000323071:R57C	R	+	1	0	ACOT4	73128585	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.196000	0.03041	-2.884000	0.00318	-0.502000	0.04539	CGC	C|0.599;T|0.401	0.401	strong		0.761	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		T	74058832	C	T	74058832	3	4	11	1	0	0	0	0	1	0	0	0	153	652	23	1	171	1	ACOT4	14	74058832	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1081858	74058832	33290708	350	2635										
NRXN3	9369	hgsc.bcm.edu	37	chr14	79175759	79175759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tatgggctccatctcctttgActtccgcaccacagagccca	7	16	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:79175759A>G	ENST00000554719.1	+	4	793	c.302A>G	c.(301-303)gAc>gGc	p.D101G	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D101G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCTCCTTTGACTTCCGCACC	0.517																																					p.D101G		Atlas-SNP	.											.	NRXN3	342	.	0			c.A302G						PASS	.						131	116	121					14																	79175759		2203	4300	6503	SO:0001583	missense	9369	exon4			CCTTTGACTTCCG	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.302A>G	14.37:g.79175759A>G	ENSP00000451648:p.Asp101Gly	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	163	46	0.282209	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269142	0.80469	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.79141	-1.22;-1.24;-1.24;-1.22	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.87547	2.89	0.80722	D	1	D;P	0.67145	0.996;0.782	P;P	0.61477	0.889;0.569	D	0.89852	0.4010	9	.	.	.	.	15.3852	0.74691	1.0:0.0:0.0:0.0	.	474;101	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	G	474;472;45;101;101;45	ENSP00000451947:D45G;ENSP00000451648:D101G;ENSP00000338349:D101G;ENSP00000450462:D45G	.	D	+	2	0	NRXN3	78245512	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.037000	0.60232	0.460000	0.39030	GAC	.	.	none		0.517	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		G	79175759	A	G	79175759	3	3	11	1	0	0	0	0	1	0	0	0	10667	275	10	2	308	2	NRXN3	14	79175759	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	5116927	79175759	28173781	351	2636										
PTPN21	11099	hgsc.bcm.edu	37	chr14	88951488	88951488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcggtgggggaggcatcacgTagggctggggtttaggctaa	20	6	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:88951488T>C	ENST00000556564.1	-	12	1294	c.1010A>G	c.(1009-1011)tAc>tGc	p.Y337C	PTPN21_ENST00000328736.3_Missense_Mutation_p.Y337C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	337					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGCATCACGTAGGGCTGGGG	0.428																																					p.Y337C		Atlas-SNP	.											.	PTPN21	113	.	0			c.A1010G						PASS	.						125	117	120					14																	88951488		2203	4300	6503	SO:0001583	missense	11099	exon12			ATCACGTAGGGCT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1010A>G	14.37:g.88951488T>C	ENSP00000452414:p.Tyr337Cys	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	89	34	0.382022	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365736	0.61513	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.82255	-1.59;-1.59	5.49	4.27	0.50696	.	0.073893	0.56097	D	0.000025	D	0.88994	0.6589	M	0.71581	2.175	0.43724	D	0.996202	D	0.89917	1.0	D	0.80764	0.994	D	0.88828	0.3303	10	0.49607	T	0.09	.	11.6649	0.51368	0.1326:0.0:0.0:0.8674	.	337	Q16825	PTN21_HUMAN	C	337	ENSP00000330276:Y337C;ENSP00000452414:Y337C	ENSP00000330276:Y337C	Y	-	2	0	PTPN21	88021241	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.230000	0.51286	2.212000	0.71576	0.533000	0.62120	TAC	.	.	none		0.428	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			C	88951488	T	C	88951488	3	2	11	1	0	0	0	0	1	0	0	0	12786	1638	57	2	2546	2	PTPN21	14	88951488	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	9775729	88951488	18398052	352	2637										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418968	105418968	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctttcaggtccagcttgggGcccttaacatctatctgggg	11	12	3	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr14:105418968G>C	ENST00000333244.5	-	7	2939	c.2820C>G	c.(2818-2820)ggC>ggG	p.G940G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	940						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTTGGGGCCCTTAACAT	0.622																																					p.G940G		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C2820G						PASS	.						138	159	152					14																	105418968		1861	4088	5949	SO:0001819	synonymous_variant	113146	exon7			CTTGGGGCCCTTA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2820C>G	14.37:g.105418968G>C		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	183	67	0.36612	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418968	G	C	105418968	2	2	11	1	0	0	0	0	0	0	0	1	415	1190	42	4		4	AHNAK2	14	105418968	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	16467480	105418968	1930572	353	2638										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27777873	27777873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tggcaaagactgtcagagctTcttctgctgctatgaagaat	10	8	3	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:27777873T>G	ENST00000333743.6	+	10	1504	c.1250T>G	c.(1249-1251)tTc>tGc	p.F417C	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCAGAGCTTCTTCTGCTGC	0.463																																					p.F417C	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.T1250G						PASS	.						105	107	106					15																	27777873		1973	4142	6115	SO:0001583	missense	2567	exon10			AGAGCTTCTTCTG		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1250T>G	15.37:g.27777873T>G	ENSP00000331912:p.Phe417Cys	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	151	56	0.370861	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043813	0.75732	.	.	ENSG00000182256	ENST00000333743	D	0.84298	-1.83	5.85	4.7	0.59300	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055639	0.64402	D	0.000001	D	0.87861	0.6284	L	0.39514	1.22	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.86989	0.2109	10	0.49607	T	0.09	.	11.4819	0.50331	0.1347:0.0:0.0:0.8653	.	417	Q99928	GBRG3_HUMAN	C	417	ENSP00000331912:F417C	ENSP00000331912:F417C	F	+	2	0	GABRG3	25451468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.941000	0.70195	1.003000	0.39130	0.528000	0.53228	TTC	.	.	none		0.463	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			G	27777873	T	G	27777873	3	3	11	1	0	0	0	0	1	0	0	0	6173	1783	62	5	1288	5	GABRG3	15	27777873	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10		27777873	74753519	354	2639										
HERC2	8924	hgsc.bcm.edu	37	chr15	28483809	28483809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttatatcatacaccttcccGtcaatcacagtccagaagcc	4	14	3	1	rs149204675	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:28483809G>A	ENST00000261609.7	-	24	3795	c.3687C>T	c.(3685-3687)gaC>gaT	p.D1229D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACACCTTCCCGTCAATCACAG	0.373													G|||	26	0.00519169	0.0129	0.0	5008	,	,		17942	0.0		0.004	False		,,,				2504	0.0051				p.D1229D		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C3687T						scavenged	.						73	68	70					15																	28483809		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon24			CTTCCCGTCAATC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3687C>T	15.37:g.28483809G>A		Somatic	475	2	0.00421053		WXS	Illumina HiSeq	Phase_I	393	6	0.0152672	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.998;A|0.002	0.002	strong		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28483809	G	A	28483809	2	1	11	1	0	0	0	0	0	0	0	1	7058	1136	40	1		1	HERC2	15	28483809	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	705936	28483809	74047583	355	2640										
PGBD4	161779	hgsc.bcm.edu	37	chr15	34396115	34396115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttctttcaccatcttctacaCattacagtgctgaactccta	3	13	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:34396115C>A	ENST00000397766.2	+	1	1842	c.1383C>A	c.(1381-1383)caC>caA	p.H461Q	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	461										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATCTTCTACACATTACAGTGC	0.423																																					p.H461Q		Atlas-SNP	.											.	PGBD4	58	.	0			c.C1383A						PASS	.						75	70	71					15																	34396115		2201	4298	6499	SO:0001583	missense	161779	exon1			TCTACACATTACA	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1383C>A	15.37:g.34396115C>A	ENSP00000380872:p.His461Gln	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	45	14	0.311111	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	5.706	0.314803	0.10789	.	.	ENSG00000182405	ENST00000397766	T	0.15718	2.4	0.7	-0.4	0.12411	.	0.778304	0.10025	U	0.725529	T	0.04452	0.0122	N	0.01352	-0.895	0.20926	N	0.999826	B	0.15473	0.013	B	0.04013	0.001	T	0.37337	-0.9710	10	0.31617	T	0.26	.	1.6567	0.02783	0.3278:0.4027:0.0:0.2695	.	461	Q96DM1	PGBD4_HUMAN	Q	461	ENSP00000380872:H461Q	ENSP00000380872:H461Q	H	+	3	2	PGBD4	32183407	1.000000	0.71417	0.542000	0.28115	0.953000	0.61014	2.024000	0.41049	-0.152000	0.11156	0.306000	0.20318	CAC	.	.	none		0.423	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			A	34396115	C	A	34396115	3	1	11	1	0	0	0	0	1	0	0	0	11783	477	17	4	1385	4	PGBD4	15	34396115	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5912306	34396115	68135277	356	2641										
FBN1	2200	hgsc.bcm.edu	37	chr15	48703210	48703210	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgaagcaaaacctggatttTcatcttcagattatcaccca	5	10	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:48703210T>G	ENST00000316623.5	-	66	9048	c.8593A>C	c.(8593-8595)Aaa>Caa	p.K2865Q	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2865					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTGGATTTTCATCTTCAGA	0.328																																					p.K2865Q		Atlas-SNP	.											.	FBN1	310	.	0			c.A8593C						PASS	.						87	85	85					15																	48703210		2198	4297	6495	SO:0001583	missense	2200	exon66			GGATTTTCATCTT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8593A>C	15.37:g.48703210T>G	ENSP00000325527:p.Lys2865Gln	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	155	65	0.419355	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384485	0.42308	.	.	ENSG00000166147	ENST00000316623	D	0.82711	-1.64	5.87	5.87	0.94306	.	0.088256	0.85682	D	0.000000	T	0.80071	0.4556	M	0.68317	2.08	0.80722	D	1	P	0.41313	0.745	B	0.31686	0.134	T	0.82808	-0.0274	10	0.62326	D	0.03	.	15.9277	0.79632	0.0:0.0:0.0:1.0	.	2865	P35555	FBN1_HUMAN	Q	2865	ENSP00000325527:K2865Q	ENSP00000325527:K2865Q	K	-	1	0	FBN1	46490502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.087000	0.64480	2.247000	0.74100	0.528000	0.53228	AAA	.	.	none		0.328	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48703210	T	G	48703210	3	3	11	1	0	0	0	0	1	0	0	0	5702	1792	62	5	26	5	FBN1	15	48703210	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	14307095	48703210	53828182	357	2642										
UNC13C	440279	hgsc.bcm.edu	37	chr15	54792317	54792317	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgcaatggctagatgaaaacGaagatgtgtcaatggaattc	11	5	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:54792317G>C	ENST00000260323.11	+	20	5101	c.5101G>C	c.(5101-5103)Gaa>Caa	p.E1701Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.E1701Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1699Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1701	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGAAAACGAAGATGTGTC	0.348																																					p.E1701Q		Atlas-SNP	.											.	UNC13C	674	.	0			c.G5101C						PASS	.						131	122	125					15																	54792317		1847	4102	5949	SO:0001583	missense	440279	exon19			GAAAACGAAGATG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5101G>C	15.37:g.54792317G>C	ENSP00000260323:p.Glu1701Gln	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	207	73	0.352657	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664366	0.88251	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80123	-1.33;-1.34;-1.33	5.5	5.5	0.81552	Munc13 homology 1 (1);	0.105919	0.64402	D	0.000007	D	0.90000	0.6878	M	0.77820	2.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.89805	0.3978	10	0.52906	T	0.07	.	18.7617	0.91855	0.0:0.0:1.0:0.0	.	1701	Q8NB66	UN13C_HUMAN	Q	1701;1701;1699	ENSP00000260323:E1701Q;ENSP00000438156:E1701Q;ENSP00000442569:E1699Q	ENSP00000260323:E1701Q	E	+	1	0	UNC13C	52579609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.683000	0.98657	2.744000	0.94065	0.655000	0.94253	GAA	.	.	none		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54792317	G	C	54792317	3	2	11	1	0	0	0	0	1	0	0	0	16983	1059	37	4	5175	4	UNC13C	15	54792317	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	6089107	54792317	47739075	358	2643										
HERC1	8925	hgsc.bcm.edu	37	chr15	63935174	63935174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acctttgatctatttgagcaAgcagctactccaacttctgg	7	11	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:63935174A>G	ENST00000443617.2	-	59	11502	c.11415T>C	c.(11413-11415)gcT>gcC	p.A3805A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3805					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATTTgagcaagcagctactc	0.378																																					p.A3805A		Atlas-SNP	.											HERC1_ENST00000443617,colon,carcinoma,-1,2	HERC1	624	2	0			c.T11415C						scavenged	.						67	62	64					15																	63935174		1879	4111	5990	SO:0001819	synonymous_variant	8925	exon59			TGAGCAAGCAGCT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11415T>C	15.37:g.63935174A>G		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	199	3	0.0150754	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																			.	.	none		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63935174	A	G	63935174	2	3	11	1	0	0	0	0	0	0	0	1	7057	59	3	3		3	HERC1	15	63935174	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	9142857	63935174	38596218	359	2644										
FAM96A	84191	hgsc.bcm.edu	37	chr15	64380994	64380994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacacaactttccgagaccaCttccagttcttctaaagtat	4	13	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:64380994C>T	ENST00000300030.3	-	2	430	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	FAM96A_ENST00000559950.1_Missense_Mutation_p.V61M|FAM96A_ENST00000380290.3_Missense_Mutation_p.V61M|FAM96A_ENST00000557835.1_Missense_Mutation_p.V61M	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	61					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCGAGACCACTTCCAGTTCT	0.383																																					p.V61M		Atlas-SNP	.											FAM96A,NS,carcinoma,+2,1	FAM96A	18	1	0			c.G181A						scavenged	.						82	76	78					15																	64380994		2203	4300	6503	SO:0001583	missense	84191	exon2			AGACCACTTCCAG		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.181G>A	15.37:g.64380994C>T	ENSP00000300030:p.Val61Met	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	168	2	0.0119048	NM_032231	A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916722	0.92249	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.130479	0.51477	D	0.000088	D	0.86789	0.6017	M	0.93898	3.47	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.959	D	0.89636	0.3859	9	0.87932	D	0	-21.0365	17.573	0.87940	0.0:1.0:0.0:0.0	.	61;61	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	M	61	.	ENSP00000300030:V61M	V	-	1	0	FAM96A	62168047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.407000	0.80029	2.735000	0.93741	0.650000	0.86243	GTG	.	.	none		0.383	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		T	64380994	C	T	64380994	3	4	11	1	0	0	0	0	1	0	0	0	5654	565	20	2	317	2	FAM96A	15	64380994	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	445820	64380994	38150398	360	2645										
NR2E3	10002	hgsc.bcm.edu	37	chr15	72103180	72103180	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggagtctccaggcagatggGgcctgggggaggatcccaca	17	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:72103180G>T	ENST00000398840.2	+	0	287							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						AGGCAGATGGGGCCTGGGGGA	0.642																																					p.G33C		Atlas-SNP	.											.	NR2E3	53	.	0			c.G97T						PASS	.						10	12	11					15																	72103180		1868	4092	5960			10002	exon1			AGATGGGGCCTGG		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103180G>T		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	283	64	0.226148	NM_016346	B6ZGU0|Q9UHM4	Missense_Mutation	SNP	ENST00000398840.2	37		.	.	.	.	.	.	.	.	.	.	G	12.04	1.817162	0.32145	.	.	ENSG00000031544	ENST00000398840	.	.	.	3.15	3.15	0.36227	.	0.163797	0.37393	N	0.002104	T	0.42787	0.1218	N	0.08118	0	0.43540	D	0.995838	D	0.76494	0.999	P	0.61201	0.885	T	0.59495	-0.7444	8	0.56958	D	0.05	.	12.1851	0.54234	0.0:0.0:1.0:0.0	.	33	Q9Y5X4	NR2E3_HUMAN	C	33	.	ENSP00000381820:G33C	G	+	1	0	NR2E3	69890234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.240000	0.43088	2.037000	0.60232	0.655000	0.94253	GGC	.	.	none		0.642	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		T	72103180	G	T	72103180	1	4	11	0	1	0	0	0	0	0	0	0	10626	1232	43	4		4	NR2E3	15	72103180	RNA	SNP	G	TCGA-FF-8042-01A-11D-2210-10	7722186	72103180	30428212	361	2646										
HCN4	10021	hgsc.bcm.edu	37	chr15	73616204	73616204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccggtcatgctgcacaatctGctggatgatctcattctcct	8	13	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:73616204G>T	ENST00000261917.3	-	8	3223	c.2230C>A	c.(2230-2232)Cag>Aag	p.Q744K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	744					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGCACAATCTGCTGGATGATC	0.617																																					p.Q744K		Atlas-SNP	.											.	HCN4	150	.	0			c.C2230A						PASS	.						65	71	69					15																	73616204		2198	4297	6495	SO:0001583	missense	10021	exon8			CAATCTGCTGGAT	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2230C>A	15.37:g.73616204G>T	ENSP00000261917:p.Gln744Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	77	6	0.0779221	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138747	0.37728	.	.	ENSG00000138622	ENST00000261917	T	0.42900	0.96	3.46	3.46	0.39613	.	.	.	.	.	T	0.39091	0.1065	M	0.63843	1.955	0.37183	D	0.903603	B	0.25667	0.131	B	0.22386	0.039	T	0.41980	-0.9478	9	0.15499	T	0.54	.	15.125	0.72475	0.0:0.0:1.0:0.0	.	744	Q9Y3Q4	HCN4_HUMAN	K	744	ENSP00000261917:Q744K	ENSP00000261917:Q744K	Q	-	1	0	HCN4	71403257	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.267000	0.51577	1.761000	0.52028	0.313000	0.20887	CAG	.	.	none		0.617	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73616204	G	T	73616204	3	4	11	1	0	0	0	0	1	0	0	0	6999	1328	46	4	1385	4	HCN4	15	73616204	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1513024	73616204	28915188	362	2647										
LINGO1	84894	hgsc.bcm.edu	37	chr15	77906709	77906709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtcgggcgagtagctgcgcaCatgcaggtgggcgggcatgg	20	9	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:77906709C>G	ENST00000355300.6	-	2	1714	c.1540G>C	c.(1540-1542)Gtg>Ctg	p.V514L	LINGO1_ENST00000561030.1_Missense_Mutation_p.V508L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	514					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TAGCTGCGCACATGCAGGTGG	0.672																																					p.V514L		Atlas-SNP	.											.	LINGO1	76	.	0			c.G1540C						PASS	.						55	60	58					15																	77906709		2130	4227	6357	SO:0001583	missense	84894	exon2			TGCGCACATGCAG	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1540G>C	15.37:g.77906709C>G	ENSP00000347451:p.Val514Leu	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	84	24	0.285714	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762626	0.49574	.	.	ENSG00000169783	ENST00000355300	T	0.60299	0.2	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.055741	0.64402	D	0.000001	T	0.70219	0.3199	M	0.93283	3.4	0.80722	D	1	P	0.49253	0.921	B	0.41135	0.348	T	0.81540	-0.0886	10	0.66056	D	0.02	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	514	Q96FE5	LIGO1_HUMAN	L	514	ENSP00000347451:V514L	ENSP00000347451:V514L	V	-	1	0	LINGO1	75693764	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	5.938000	0.70170	2.359000	0.80004	0.462000	0.41574	GTG	.	.	none		0.672	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		G	77906709	C	G	77906709	3	3	11	1	0	0	0	0	1	0	0	0	8814	478	17	4	326	4	LINGO1	15	77906709	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4290505	77906709	24624683	363	2648										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79080663	79080663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtggagacatgatgaaaggtCgtttcccaacgggctcacag	13	9	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:79080663C>T	ENST00000388820.4	-	8	1442	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	411	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATGAAAGGTCGTTTCCCAAC	0.612																																					p.R411Q		Atlas-SNP	.											ADAMTS7,NS,carcinoma,0,1	ADAMTS7	142	1	0			c.G1232A						scavenged	.						159	136	143					15																	79080663		2196	4293	6489	SO:0001583	missense	11173	exon8			AAAGGTCGTTTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1232G>A	15.37:g.79080663C>T	ENSP00000373472:p.Arg411Gln	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040431	0.55003	.	.	ENSG00000136378	ENST00000388820	T	0.03441	3.93	5.37	0.0853	0.14441	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.068763	0.56097	D	0.000031	T	0.02380	0.0073	L	0.37630	1.12	0.35551	D	0.80384	B;P	0.35844	0.334;0.524	B;B	0.28916	0.059;0.096	T	0.55309	-0.8161	10	0.25106	T	0.35	.	5.4694	0.16662	0.1278:0.5715:0.0:0.3007	.	411;411	A8MQ00;Q9UKP4	.;ATS7_HUMAN	Q	411	ENSP00000373472:R411Q	ENSP00000373472:R411Q	R	-	2	0	ADAMTS7	76867718	0.945000	0.32115	0.997000	0.53966	0.835000	0.47333	0.308000	0.19314	0.011000	0.14865	-0.320000	0.08662	CGA	.	.	none		0.612	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79080663	C	T	79080663	3	4	11	1	0	0	0	0	1	0	0	0	271	884	31	1	3896	1	ADAMTS7	15	79080663	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1173954	79080663	23450729	364	2649										
AGBL1	123624	hgsc.bcm.edu	37	chr15	87089240	87089240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgggctattgtaggttttctGtgacttccatggccactccc	10	11	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:87089240G>T	ENST00000441037.2	+	19	2650	c.2555G>T	c.(2554-2556)tGt>tTt	p.C852F	AGBL1_ENST00000389298.3_Missense_Mutation_p.C583F|AGBL1_ENST00000421325.2_Missense_Mutation_p.C852F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	852					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TAGGTTTTCTGTGACTTCCAT	0.433																																					p.C852F		Atlas-SNP	.											AGBL1,NS,carcinoma,+1,1	AGBL1	151	1	0			c.G2555T						PASS	.						130	120	123					15																	87089240		1902	4120	6022	SO:0001583	missense	123624	exon19			TTTTCTGTGACTT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2555G>T	15.37:g.87089240G>T	ENSP00000413001:p.Cys852Phe	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	201	55	0.273632	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155644	0.78114	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10477	2.87;2.87	5.53	5.53	0.82687	Peptidase M14, carboxypeptidase A (1);	0.965353	0.08432	U	0.946782	T	0.38772	0.1053	M	0.69823	2.125	0.50467	D	0.999876	D	0.89917	1.0	D	0.97110	1.0	T	0.01848	-1.1261	10	0.87932	D	0	-3.2391	18.6325	0.91364	0.0:0.0:1.0:0.0	.	852	Q96MI9	CBPC4_HUMAN	F	887;852;583	ENSP00000397173:C852F;ENSP00000373949:C583F	ENSP00000373949:C583F	C	+	2	0	AGBL1	84890244	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.072000	0.93986	2.882000	0.98803	0.655000	0.94253	TGT	.	.	none		0.433	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	87089240	G	T	87089240	3	4	11	1	0	0	0	0	1	0	0	0	375	1377	48	4	2625	4	AGBL1	15	87089240	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	8008577	87089240	15442152	365	2650										
NTRK3	4916	hgsc.bcm.edu	37	chr15	88727487	88727487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tccggtgtagagctccatgtCcacggcgttgagcgtgtgaa	14	10	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:88727487C>T	ENST00000360948.2	-	3	453	c.292G>A	c.(292-294)Gac>Aac	p.D98N	NTRK3_ENST00000540489.2_Missense_Mutation_p.D98N|NTRK3_ENST00000317501.3_Missense_Mutation_p.D98N|NTRK3_ENST00000394480.2_Missense_Mutation_p.D98N|NTRK3_ENST00000542733.2_5'UTR|NTRK3_ENST00000558676.1_Missense_Mutation_p.D98N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D98N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D98N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D98N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	98					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTCCATGTCCACGGCGTTG	0.577			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																											p.D98N		Atlas-SNP	.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	.	NTRK3	587	.	0			c.G292A						PASS	.						110	81	91					15																	88727487		2201	4299	6500	SO:0001583	missense	4916	exon4			CCATGTCCACGGC	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.292G>A	15.37:g.88727487C>T	ENSP00000354207:p.Asp98Asn	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	99	21	0.212121	NM_001243101	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601130	0.87055	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	N	0.08118	0	0.40417	D	0.979807	D;D;D;D;D	0.89917	0.993;0.997;1.0;0.996;0.982	D;D;D;D;P	0.83275	0.977;0.971;0.996;0.993;0.855	D	0.89666	0.3880	10	0.72032	D	0.01	.	12.4109	0.55466	0.0:1.0:0.0:0.0	.	98;98;98;98;98	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	N	98	ENSP00000377990:D98N;ENSP00000354207:D98N;ENSP00000350356:D98N;ENSP00000347397:D98N;ENSP00000444673:D98N;ENSP00000318328:D98N	ENSP00000318328:D98N	D	-	1	0	NTRK3	86528491	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.258000	0.65479	2.299000	0.77371	0.655000	0.94253	GAC	.	.	none		0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88727487	C	T	88727487	3	4	11	1	0	0	0	0	1	0	0	0	10708	855	30	2	2557	2	NTRK3	15	88727487	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1638247	88727487	13803905	366	2651										
SEMA4B	10519	hgsc.bcm.edu	37	chr15	90770838	90770838	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcgccaaggacctttgcagcGcgtcttcggttgtgtccccg	13	14	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:90770838G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Missense_Mutation_p.A575T|SEMA4B_ENST00000332496.6_Missense_Mutation_p.A580T|SEMA4B_ENST00000411539.2_Missense_Mutation_p.A580T	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTTTGCAGCGCGTCTTCGGT	0.607																																					p.A580T		Atlas-SNP	.											.	SEMA4B	51	.	0			c.G1738A						PASS	.						68	73	71					15																	90770838		2021	4190	6211	SO:0001628	intergenic_variant	10509	exon14			TGCAGCGCGTCTT	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90770838G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	77	17	0.220779	NM_020210	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682933	0.47991	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.21361	2.01;2.21;2.01	5.38	-1.92	0.07618	.	1.464410	0.03864	N	0.274414	T	0.06280	0.0162	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.29731	-1.0002	10	0.29301	T	0.29	.	7.3344	0.26601	0.4842:0.1203:0.3956:0.0	.	575;580;575	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	T	580;575;580	ENSP00000332204:A580T;ENSP00000368417:A575T;ENSP00000394720:A580T	ENSP00000332204:A580T	A	+	1	0	SEMA4B	88571842	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.873000	0.04214	-0.596000	0.05821	-0.416000	0.06073	GCG	.	.	none		0.607	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			A	90770838	G	A	90770838	1	1	11	0	1	0	0	0	0	0	0	0	14032	1087	38	1		1	SEMA4B	15	90770838	IGR	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2043351	90770838	11760554	367	2652										
CRTC3	64784	hgsc.bcm.edu	37	chr15	91172567	91172567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacagacatctgttcccaacGcatctgctcttcacccttcg	5	17	4	1	rs140158187	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:91172567G>A	ENST00000268184.6	+	11	1073	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.A357T			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	357					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGTTCCCAACGCATCTGCTCT	0.547			T	MAML2	salivary gland mucoepidermoid								G|||	11	0.00219649	0.0076	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0				p.A357T		Atlas-SNP	.		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	CRTC3	47	.	0			c.G1069A						PASS	.	G	THR/ALA,THR/ALA	45,4351	47.5+/-82.1	0,45,2153	261	253	255		1069,1069	3.3	0	15	dbSNP_134	255	0,8596		0,0,4298	yes	missense,missense	CRTC3	NM_001042574.1,NM_022769.3	58,58	0,45,6451	AA,AG,GG		0.0,1.0237,0.3464	possibly-damaging,possibly-damaging	357/619,357/620	91172567	45,12947	2198	4298	6496	SO:0001583	missense	64784	exon11			CCCAACGCATCTG		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1069G>A	15.37:g.91172567G>A	ENSP00000268184:p.Ala357Thr	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	250	70	0.28	NM_022769	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	CCDS32331.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	1	0.0017482517482517483	0	0.0	G	0.759	-0.770132	0.02974	0.010237	0.0	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11495	2.77;2.77	5.18	3.32	0.38043	.	0.686881	0.14923	N	0.290567	T	0.05960	0.0155	L	0.54323	1.7	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.10450	0.002;0.005	T	0.45220	-0.9276	10	0.02654	T	1	-6.7224	6.7728	0.23602	0.2749:0.0:0.7251:0.0	.	357;357	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	T	321;357;357	ENSP00000268184:A357T;ENSP00000416573:A357T	ENSP00000268184:A357T	A	+	1	0	CRTC3	88973571	0.479000	0.25925	0.002000	0.10522	0.001000	0.01503	0.892000	0.28322	0.771000	0.33359	0.655000	0.94253	GCA	G|0.996;A|0.004	0.004	strong		0.547	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		A	91172567	G	A	91172567	3	1	11	1	0	0	0	0	1	0	0	0	3901	1087	38	1	1111	1	CRTC3	15	91172567	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	401729	91172567	11358825	368	2653										
MCTP2	55784	hgsc.bcm.edu	37	chr15	94858849	94858849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaaggaaggccggaacctggTtgtccgagatcgctgtggta	16	8	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:94858849T>C	ENST00000357742.4	+	3	620	c.620T>C	c.(619-621)gTt>gCt	p.V207A	MCTP2_ENST00000451018.3_Missense_Mutation_p.V207A|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.V207A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	207	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGAACCTGGTTGTCCGAGAT	0.527																																					p.V207A		Atlas-SNP	.											MCTP2,NS,carcinoma,+1,1	MCTP2	122	1	0			c.T620C						scavenged	.						165	138	147					15																	94858849		2197	4298	6495	SO:0001583	missense	55784	exon3			ACCTGGTTGTCCG	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.620T>C	15.37:g.94858849T>C	ENSP00000350377:p.Val207Ala	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	255	3	0.0117647	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548454	0.45383	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.68025	-0.3;-0.3;-0.3	6.07	6.07	0.98685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	N	0.02802	-0.49	0.80722	D	1	D;B;D;D;D	0.58970	0.965;0.178;0.984;0.972;0.98	D;B;P;P;P	0.64776	0.929;0.076;0.841;0.906;0.885	T	0.60949	-0.7161	10	0.14656	T	0.56	.	14.1521	0.65392	0.0:0.0:0.0:1.0	.	207;207;207;207;207	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	207	ENSP00000438521:V207A;ENSP00000395109:V207A;ENSP00000350377:V207A	ENSP00000350377:V207A	V	+	2	0	MCTP2	92659853	1.000000	0.71417	0.998000	0.56505	0.485000	0.33311	4.463000	0.60128	2.326000	0.78906	0.533000	0.62120	GTT	.	.	none		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		C	94858849	T	C	94858849	3	2	11	1	0	0	0	0	1	0	0	0	9401	1725	60	2	630	2	MCTP2	15	94858849	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	3686282	94858849	7672543	369	2654										
PGPEP1L	145814	hgsc.bcm.edu	37	chr15	99511839	99511839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cccagcaggctggccgggagCccgcgcgatagtggagggac	18	13	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:99511839C>T	ENST00000378919.6	-	5	664	c.459G>A	c.(457-459)ggG>ggA	p.G153G	PGPEP1L_ENST00000535714.1_Silent_p.G99G|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	153							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TGGCCGGGAGCCCGCGCGATA	0.552																																					p.G153G		Atlas-SNP	.											PGPEP1L,NS,carcinoma,-1,1	PGPEP1L	26	1	0			c.G459A						PASS	.						32	32	32					15																	99511839		1964	4147	6111	SO:0001819	synonymous_variant	145814	exon5			CGGGAGCCCGCGC		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.459G>A	15.37:g.99511839C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	178	47	0.264045	NM_001102612	H0YF86	Silent	SNP	ENST00000378919.6	37	CCDS53977.1																																																																																			.	.	none		0.552	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99511839	C	T	99511839	2	4	11	1	0	0	0	0	0	0	0	1	11804	726	26	2		2	PGPEP1L	15	99511839	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4652990	99511839	3019553	370	2655										
LRRK1	79705	hgsc.bcm.edu	37	chr15	101595359	101595359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cagtcattccatgagggcgcCctaggcgtggagggcactcc	14	13	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:101595359C>T	ENST00000388948.3	+	27	4622	c.4263C>T	c.(4261-4263)gcC>gcT	p.A1421A	LRRK1_ENST00000284395.5_Silent_p.A1418A|RP11-505E24.2_ENST00000559857.1_RNA	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)			ATGAGGGCGCCCTAGGCGTGG	0.572																																					p.A1421A		Atlas-SNP	.											LRRK1_ENST00000388948,brain,primitive_neuroectodermal_tumour-medulloblastoma,+2,2	LRRK1	310	2	0			c.C4263T						scavenged	.						77	77	77					15																	101595359		2025	4177	6202	SO:0001819	synonymous_variant	79705	exon27			GGGCGCCCTAGGC	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.4263C>T	15.37:g.101595359C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	222	3	0.0135135	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			.	.	none		0.572	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101595359	C	T	101595359	2	4	11	1	0	0	0	0	0	0	0	1	9032	610	22	2		2	LRRK1	15	101595359	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2083520	101595359	936033	371	2656										
LRRK1	79705	hgsc.bcm.edu	37	chr15	101605852	101605852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catggccccctccatggttaCgtcagtcgtgtgcagctctg	11	14	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr15:101605852C>T	ENST00000388948.3	+	32	5569	c.5210C>T	c.(5209-5211)aCg>aTg	p.T1737M	LRRK1_ENST00000284395.5_Missense_Mutation_p.T1734M|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	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)			TCCATGGTTACGTCAGTCGTG	0.617																																					p.T1737M		Atlas-SNP	.											LRRK1_ENST00000388948,NS,adenocarcinoma,0,3	LRRK1	310	3	0			c.C5210T						scavenged	.						66	78	74					15																	101605852		2111	4230	6341	SO:0001583	missense	79705	exon32			TGGTTACGTCAGT	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.5210C>T	15.37:g.101605852C>T	ENSP00000373600:p.Thr1737Met	Somatic	86	2	0.0232558		WXS	Illumina HiSeq	Phase_I	108	2	0.0185185	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	3.625	-0.076657	0.07184	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72725	-0.68;-0.68	5.7	1.81	0.25067	WD40 repeat-like-containing domain (1);	0.496080	0.24020	N	0.042298	T	0.51924	0.1703	L	0.33485	1.01	0.09310	N	1	P	0.34562	0.457	B	0.22152	0.038	T	0.38457	-0.9660	10	0.48119	T	0.1	.	8.9983	0.36066	0.0:0.5825:0.0:0.4175	.	1737	Q38SD2	LRRK1_HUMAN	M	1737;1734;428;291	ENSP00000373600:T1737M;ENSP00000284395:T1734M	ENSP00000284395:T1734M	T	+	2	0	LRRK1	99423375	0.006000	0.16342	0.004000	0.12327	0.001000	0.01503	1.086000	0.30853	0.088000	0.17205	-0.768000	0.03414	ACG	.	.	none		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101605852	C	T	101605852	3	4	11	1	0	0	0	0	1	0	0	0	9032	536	19	1	5332	1	LRRK1	15	101605852	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	10493	101605852	925540	372	2657										
TPSB2	64499	hgsc.bcm.edu	37	chr16	1279438	1279438	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccgcagttgcaccctgagggCggccagatccttgacgtccc	12	16	0	3	rs202041848	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:1279438C>T	ENST00000339687.6	-	0	275				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				ACCCTGAGGGCGGCCAGATCC	0.667													C|||	1791	0.357628	0.267	0.2853	5008	,	,		12166	0.5149		0.3469	False		,,,				2504	0.3804				p.A85T		Atlas-SNP	.											TPSB2,NS,carcinoma,0,1	TPSB2	8	1	0			c.G253A						scavenged	.						2	2	2					16																	1279438		1068	2864	3932			64499	exon4			TGAGGGCGGCCAG	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279438C>T		Somatic	135	24	0.177778		WXS	Illumina HiSeq	Phase_I	137	26	0.189781	NM_024164	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		.	.	.	.	.	.	.	.	.	.	C	3.062	-0.193122	0.06259	.	.	ENSG00000197253	ENST00000430512	D	0.88975	-2.45	3.7	-6.35	0.01975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.192380	0.02106	N	0.054344	T	0.71719	0.3373	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.65286	-0.6205	8	0.13470	T	0.59	.	0.1285	0.00071	0.2587:0.2665:0.1762:0.2985	.	85	P20231	TRYB2_HUMAN	T	85	ENSP00000412409:A85T	ENSP00000412409:A85T	A	-	1	0	TPSB2	1219439	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.877000	0.00344	-1.596000	0.01611	-0.448000	0.05591	GCC	.	.	weak		0.667	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		T	1279438	C	T	1279438	1	4	11	0	1	0	0	0	0	0	0	0	16421	768	27	1		1	TPSB2	16	1279438	RNA	SNP	C	TCGA-FF-8042-01A-11D-2210-10		1279438	89075315	373	2658										
NPW	283869	hgsc.bcm.edu	37	chr16	2070164	2070164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aacccgcagcccgcgaggctCctctcctgctgccctcgtgg	11	19	1	0	rs2286471	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:2070164C>T	ENST00000566435.1	+	1	619	c.106C>T	c.(106-108)Cct>Tct	p.P36S	NPW_ENST00000329610.4_Missense_Mutation_p.P88S			Q8N729	NPW_HUMAN	neuropeptide W	88					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						CCGCGAGGCTCCTCTCCTGCT	0.771													C|||	960	0.191693	0.295	0.0893	5008	,	,		10080	0.3304		0.1024	False		,,,				2504	0.0736				p.P88S		Atlas-SNP	.											.	NPW	4	.	0			c.C262T						PASS	.	C	SER/PRO	641,2329		67,507,911	8	8	8		262	2.1	0	16	dbSNP_100	8	559,6313		29,501,2906	yes	missense	NPW	NM_001099456.2	74	96,1008,3817	TT,TC,CC		8.1345,21.5825,12.1926	possibly-damaging	88/166	2070164	1200,8642	1485	3436	4921	SO:0001583	missense	283869	exon1			GAGGCTCCTCTCC	AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.106C>T	16.37:g.2070164C>T	ENSP00000456974:p.Pro36Ser	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	14	5	0.357143	NM_001099456		Missense_Mutation	SNP	ENST00000566435.1	37		425	0.1945970695970696	144	0.2926829268292683	35	0.09668508287292818	174	0.3041958041958042	72	0.09498680738786279	c	12.52	1.963210	0.34659	0.215825	0.081345	ENSG00000183971	ENST00000329610	T	0.44482	0.92	3.08	2.09	0.27110	.	0.933080	0.08816	U	0.889472	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P	0.46706	0.883	B	0.32928	0.155	T	0.34054	-0.9844	9	0.20046	T	0.44	.	8.0822	0.30752	0.0:0.7485:0.2515:0.0	rs2286471	88	Q8N729	NPW_HUMAN	S	88	ENSP00000330070:P88S	ENSP00000330070:P88S	P	+	1	0	NPW	2010165	0.002000	0.14202	0.003000	0.11579	0.021000	0.10359	0.455000	0.21843	0.617000	0.30160	0.400000	0.26472	CCT	C|0.821;T|0.179	0.179	strong		0.771	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000434312.1	NM_001099456		T	2070164	C	T	2070164	3	4	11	1	0	0	0	0	1	0	0	0	10606	855	30	2	264	2	NPW	16	2070164	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	790726	2070164	88284589	374	2659										
GRIN2A	2903	hgsc.bcm.edu	37	chr16	10274133	10274133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcgaagttcgcgctctgtcaCgtcgtggctgtgacccagca	12	13	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:10274133C>T	ENST00000396573.2	-	3	445	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V46M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V46M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V46M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V46M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	46					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V46L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTCTGTCACGTCGTGGCTG	0.697																																					p.V46M		Atlas-SNP	.											GRIN2A,NS,carcinoma,0,1	GRIN2A	366	1	1	Substitution - Missense(1)	lung(1)	c.G136A						PASS	.						50	55	53					16																	10274133		2197	4300	6497	SO:0001583	missense	2903	exon3			CTGTCACGTCGTG		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.136G>A	16.37:g.10274133C>T	ENSP00000379818:p.Val46Met	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	40	16	0.4	NM_000833	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334675	0.41297	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.54	3.58	0.41010	.	0.264378	0.28977	N	0.013526	T	0.72700	0.3493	N	0.22421	0.69	0.80722	D	1	B;P;P	0.41041	0.002;0.736;0.609	B;B;B	0.30782	0.0;0.12;0.041	T	0.65561	-0.6138	9	.	.	.	.	8.8007	0.34907	0.0:0.7269:0.0:0.2731	.	46;46;46	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	46	ENSP00000379818:V46M;ENSP00000385872:V46M;ENSP00000332549:V46M;ENSP00000379820:V46M	.	V	-	1	0	GRIN2A	10181634	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.062000	0.30555	0.378000	0.24764	-1.134000	0.01955	GTG	.	.	none		0.697	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	10274133	C	T	10274133	3	4	11	1	0	0	0	0	1	0	0	0	6779	536	19	1	4306	1	GRIN2A	16	10274133	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	8203969	10274133	80080620	375	2660										
TUFM	25970	hgsc.bcm.edu	37	chr16	28856096	28856096	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaactcggtgagcagctcccGgatctccagttccaccagtt	9	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:28856096G>A	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.R203W|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AGCAGCTCCCGGATCTCCAGT	0.582																																					p.R203W		Atlas-SNP	.											TUFM,NS,carcinoma,+1,1	TUFM	33	1	0			c.C607T						scavenged	.						118	110	112					16																	28856096		2197	4300	6497	SO:0001631	upstream_gene_variant	7284	exon5			GCTCCCGGATCTC	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856096G>A	Exception_encountered	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_003321	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646820	0.67358	.	.	ENSG00000178952	ENST00000313511	T	0.71934	-0.61	5.63	2.41	0.29592	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93073	0.6484	10	0.87932	D	0	-0.5418	13.8343	0.63400	0.0:0.0:0.5789:0.4211	.	200	P49411	EFTU_HUMAN	W	203	ENSP00000322439:R203W	ENSP00000322439:R203W	R	-	1	2	TUFM	28763597	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.405000	0.52630	0.685000	0.31468	0.561000	0.74099	CGG	.	.	none		0.582	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		A	28856096	G	A	28856096	1	1	11	0	1	0	0	0	0	0	0	0	16768	1115	39	1		1	TUFM	16	28856096	5'Flank	SNP	G	TCGA-FF-8042-01A-11D-2210-10	18581963	28856096	61498657	376	2661										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57764952	57764952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgctctcaggccatgttccGcatccgcatcctggagcagc	10	16	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:57764952G>A	ENST00000360716.3	+	18	2722	c.2501G>A	c.(2500-2502)cGc>cAc	p.R834H	CCDC135_ENST00000336825.8_Missense_Mutation_p.R769H|CCDC135_ENST00000394337.4_Missense_Mutation_p.R834H			Q8IY82	CC135_HUMAN		834					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCCATGTTCCGCATCCGCATC	0.592																																					p.R834H		Atlas-SNP	.											CCDC135,NS,carcinoma,+1,1	CCDC135	97	1	0			c.G2501A						scavenged	.						101	89	93					16																	57764952		2198	4300	6498	SO:0001583	missense	84229	exon17			TGTTCCGCATCCG																												ENST00000360716.3:c.2501G>A	16.37:g.57764952G>A	ENSP00000353942:p.Arg834His	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.099293	0.76983	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55234	0.53;0.53;0.53	5.04	5.04	0.67666	.	0.274751	0.35646	N	0.003074	T	0.76104	0.3941	M	0.85197	2.74	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	P;D	0.91635	0.87;0.999	T	0.80589	-0.1315	10	0.87932	D	0	-22.0214	17.4019	0.87463	0.0:0.0:1.0:0.0	.	769;834	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	834;769;834	ENSP00000377869:R834H;ENSP00000338938:R769H;ENSP00000353942:R834H	ENSP00000338938:R769H	R	+	2	0	CCDC135	56322453	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.620000	0.67736	2.524000	0.85096	0.639000	0.83563	CGC	.	.	none		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57764952	G	A	57764952	3	1	11	1	0	0	0	0	1	0	0	0	2769	1087	38	1	2563	1	CCDC135	16	57764952	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	28908856	57764952	32589801	377	2662										
CNTNAP4	85445	hgsc.bcm.edu	37	chr16	76350339	76350339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgatcctcttgtgtctgccTtgcctcaggcatccttcagc	8	14	4	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:76350339T>G	ENST00000476707.1	+	1	263	c.124T>G	c.(124-126)Ttg>Gtg	p.L42V	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L38V|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L14V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L38V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	39	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTGTCTGCCTTGCCTCAGGC	0.483																																					p.L14V		Atlas-SNP	.											.	CNTNAP4	600	.	0			c.T40G						PASS	.						128	92	104					16																	76350339		2198	4300	6498	SO:0001583	missense	85445	exon2			TCTGCCTTGCCTC	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.124T>G	16.37:g.76350339T>G	ENSP00000417628:p.Leu42Val	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	126	54	0.428571	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	17.04	3.287086	0.59867	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.39	0.937	0.19494	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.31554	N	0.007446	D	0.97704	0.9247	.	.	.	0.34919	D	0.748277	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.983;0.983;0.982;0.996	D	0.97326	0.9947	9	0.87932	D	0	.	7.0566	0.25104	0.0:0.402:0.0:0.598	.	14;42;14;39	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	38;38;14;42	ENSP00000306893:L38V;ENSP00000439733:L38V;ENSP00000418741:L14V;ENSP00000417628:L42V	ENSP00000306893:L38V	L	+	1	2	CNTNAP4	74907840	0.986000	0.35501	0.932000	0.37286	0.951000	0.60555	2.133000	0.42093	0.040000	0.15660	0.533000	0.62120	TTG	.	.	none		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		G	76350339	T	G	76350339	3	3	11	1	0	0	0	0	1	0	0	0	3649	1606	56	5	134	5	CNTNAP4	16	76350339	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	18585387	76350339	14004414	378	2663										
KIAA1609	57707	hgsc.bcm.edu	37	chr16	84516214	84516214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcaccagtccgttcgggatcGtctgctgtccatggttcaag	11	12	3	0	rs140439420	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr16:84516214G>A	ENST00000343629.6	-	6	1243	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	TLDC1_ENST00000535580.1_Missense_Mutation_p.T327M	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	354	TLD.					lysosomal membrane (GO:0005765)											GTTCGGGATCGTCTGCTGTCC	0.577													G|||	10	0.00199681	0.0	0.0058	5008	,	,		19898	0.0		0.003	False		,,,				2504	0.0031				p.T354M		Atlas-SNP	.											KIAA1609,NS,carcinoma,0,1	KIAA1609	39	1	0			c.C1061T						scavenged	.	G	MET/THR	7,4393	12.9+/-30.5	0,7,2193	187	151	163		1061	5.4	1	16	dbSNP_134	163	37,8563	25.7+/-73.6	0,37,4263	yes	missense	KIAA1609	NM_020947.3	81	0,44,6456	AA,AG,GG		0.4302,0.1591,0.3385	probably-damaging	354/457	84516214	44,12956	2200	4300	6500	SO:0001583	missense	57707	exon6			GGGATCGTCTGCT	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1061C>T	16.37:g.84516214G>A	ENSP00000343635:p.Thr354Met	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	171	3	0.0175439	NM_020947	Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	G	18.60	3.658288	0.67586	0.001591	0.004302	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	T;T	0.11930	2.9;2.73	5.37	5.37	0.77165	TLDc (2);	0.050042	0.85682	D	0.000000	T	0.38134	0.1029	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.52019	-0.8631	10	0.87932	D	0	-45.4035	18.1009	0.89505	0.0:0.0:1.0:0.0	.	327;354	F5GWS3;Q6P9B6	.;K1609_HUMAN	M	354;22;327	ENSP00000343635:T354M;ENSP00000441997:T327M	ENSP00000343635:T354M	T	-	2	0	KIAA1609	83073715	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.338000	0.79269	2.516000	0.84829	0.655000	0.94253	ACG	G|0.996;A|0.004	0.004	strong		0.577	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		A	84516214	G	A	84516214	3	1	11	1	0	0	0	0	1	0	0	0	8247	1145	40	1	321	1	KIAA1609	16	84516214	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	8165875	84516214	5838539	379	2664										
PITPNM3	83394	hgsc.bcm.edu	37	chr17	6367558	6367558	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgcggcacattgtatgtgatGcgaccactgctgttggtgat	13	9	0	2	rs561217506		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:6367558G>C	ENST00000262483.8	-	16	2175	c.2088C>G	c.(2086-2088)cgC>cgG	p.R696R	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.R660R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	696					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGTATGTGATGCGACCACTGC	0.597																																					p.R696R		Atlas-SNP	.											PITPNM3,colon,carcinoma,-1,1	PITPNM3	91	1	0			c.C2088G						PASS	.						83	81	81					17																	6367558		2203	4300	6503	SO:0001819	synonymous_variant	83394	exon16			TGTGATGCGACCA	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2088C>G	17.37:g.6367558G>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	77	25	0.324675	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																			.	.	none		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		C	6367558	G	C	6367558	2	2	11	1	0	0	0	0	0	0	0	1	11952	1306	46	4		4	PITPNM3	17	6367558	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10		6367558	74827652	380	2665										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386300	7386300	+	Missense_Mutation	SNP	G	G	A													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggaacctcagctgtgagaggGaagggaaggtggaggagtga							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:7386300G>A	ENST00000412468.2	+	2	1112	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)											CTGTGAGAGGGAAGGGAAGGT	0.557																																					p.E333K		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,-1,1	.	.	1	0			c.G997A						scavenged	.						60	59	59					17																	7386300		2203	4300	6503	SO:0001583	missense	643664	exon2			GAGAGGGAAGGGA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.997G>A	17.37:g.7386300G>A	ENSP00000396523:p.Glu333Lys	Somatic	142	2	0.0140845		WXS	Illumina HiSeq	Phase_I	134	12	0.0895522	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322479	0.01320	.	.	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.69	1.44	0.22558	.	.	.	.	.	T	0.14056	0.0340	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.37526	-0.9702	9	0.02654	T	1	-0.2286	4.7772	0.13185	0.2637:0.1728:0.5636:0.0	.	333	P0C7Q6	S35G6_HUMAN	K	333	ENSP00000396523:E333K	ENSP00000396523:E333K	E	+	1	0	SLC35G6	7327024	1.000000	0.71417	0.321000	0.25320	0.451000	0.32288	4.403000	0.59729	0.499000	0.27970	-0.225000	0.12378	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386300	G	A	7386300	3	1	11	1	0	0	0	0	1	0	0	0	561	1175	41	2	1003	2	AMAC1L3	17	7386300	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1018742	7386300	73808910	381	2666	50	2								
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386301	7386301	+	Missense_Mutation	SNP	A	A	C													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaacctcagctgtgagagggAagggaaggtggaggagtgag							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:7386301A>C	ENST00000412468.2	+	2	1113	c.998A>C	c.(997-999)gAa>gCa	p.E333A	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)		p.E333A(1)									TGTGAGAGGGAAGGGAAGGTG	0.557																																					p.E333A		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.A998C						scavenged	.						60	58	59					17																	7386301		2203	4300	6503	SO:0001583	missense	643664	exon2			AGAGGGAAGGGAA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.998A>C	17.37:g.7386301A>C	ENSP00000396523:p.Glu333Ala	Somatic	141	2	0.0141844		WXS	Illumina HiSeq	Phase_I	132	11	0.0833333	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.225018	0.06022	.	.	ENSG00000181222	ENST00000412468	T	0.26067	1.76	4.69	1.0	0.19881	.	.	.	.	.	T	0.15609	0.0376	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.22626	-1.0211	9	0.36615	T	0.2	-0.2286	5.7938	0.18375	0.4278:0.471:0.1012:0.0	.	333	P0C7Q6	S35G6_HUMAN	A	333	ENSP00000396523:E333A	ENSP00000396523:E333A	E	+	2	0	SLC35G6	7327025	0.886000	0.30341	0.428000	0.26697	0.484000	0.33280	1.649000	0.37281	0.732000	0.32470	0.477000	0.44152	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386301	A	C	7386301	3	2	11	1	0	0	0	0	1	0	0	0	561	246	9	5	1004	5	AMAC1L3	17	7386301	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1	7386301	73808909	382	2667	50	2								
MYH1	4619	hgsc.bcm.edu	37	chr17	10399327	10399327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agctcctgttctgcgattttCctgctcctctctgtctgttc	7	14	3	0	rs149731873	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:10399327C>T	ENST00000226207.5	-	35	5203	c.5109G>A	c.(5107-5109)agG>agA	p.R1703R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1703					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1703R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCGATTTTCCTGCTCCTCT	0.542													C|||	5	0.000998403	0.0008	0.0	5008	,	,		16305	0.002		0.002	False		,,,				2504	0.0				p.R1703R		Atlas-SNP	.											MYH1,NS,carcinoma,0,1	MYH1	403	1	1	Substitution - coding silent(1)	kidney(1)	c.G5109A						scavenged	.						102	92	96					17																	10399327		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon35			GATTTTCCTGCTC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5109G>A	17.37:g.10399327C>T		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	143	8	0.0559441	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			C|0.999;T|0.001	0.001	strong		0.542	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10399327	C	T	10399327	2	4	11	1	0	0	0	0	0	0	0	1	10029	854	30	2		2	MYH1	17	10399327	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3013026	10399327	70795883	383	2668										
NCOR1	9611	hgsc.bcm.edu	37	chr17	16068468	16068468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cttcatgtttgcctccgaatGctggatcctttagagaataa	8	9	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:16068468G>T	ENST00000268712.3	-	5	700	c.443C>A	c.(442-444)gCa>gAa	p.A148E	NCOR1_ENST00000395851.1_Missense_Mutation_p.A148E|NCOR1_ENST00000395848.1_Missense_Mutation_p.A39E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	148	Interaction with ZBTB33 and HEXIM1.				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)		GCCTCCGAATGCTGGATCCTT	0.383																																					p.A148E		Atlas-SNP	.											NCOR1,NS,carcinoma,-1,1	NCOR1	240	1	0			c.C443A						scavenged	.						101	94	97					17																	16068468		2203	4300	6503	SO:0001583	missense	9611	exon4			CCGAATGCTGGAT	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.443C>A	17.37:g.16068468G>T	ENSP00000268712:p.Ala148Glu	Somatic	394	0	0		WXS	Illumina HiSeq	Phase_I	329	3	0.00911854	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364350	0.24684	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T	0.52526	0.95;1.53;0.66	5.04	5.04	0.67666	.	0.537909	0.21203	N	0.078426	T	0.30039	0.0752	N	0.14661	0.345	0.80722	D	1	B;B;B;B;P;B;B	0.37985	0.046;0.046;0.199;0.046;0.613;0.394;0.16	B;B;B;B;B;B;B	0.34590	0.028;0.028;0.075;0.028;0.186;0.157;0.059	T	0.11251	-1.0595	10	0.29301	T	0.29	-4.273	13.5205	0.61566	0.0:0.2793:0.7207:0.0	.	148;148;148;148;39;148;148	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	E	148;148;39;148;39;148;148	ENSP00000268712:A148E;ENSP00000379192:A148E;ENSP00000379189:A39E	ENSP00000268712:A148E	A	-	2	0	NCOR1	16009193	0.998000	0.40836	1.000000	0.80357	0.879000	0.50718	1.772000	0.38552	2.349000	0.79799	0.478000	0.44815	GCA	.	.	none		0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	16068468	G	T	16068468	3	4	11	1	0	0	0	0	1	0	0	0	10235	1319	46	4	7047	4	NCOR1	17	16068468	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	5669141	16068468	65126742	384	2669										
MPRIP	23164	hgsc.bcm.edu	37	chr17	17078669	17078669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgctgctgactggggacggCggtggggaggccactgggtc	20	10	0	1	rs369573954		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:17078669C>T	ENST00000341712.4	+	19	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	MPRIP_ENST00000395811.5_Silent_p.G884G|MPRIP_ENST00000444976.1_Silent_p.G846G|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.G884G			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	884						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.G884G(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGGGACGGCGGTGGGGAGG	0.627																																					p.G884G		Atlas-SNP	.											MPRIP,NS,carcinoma,0,1	MPRIP	87	1	1	Substitution - coding silent(1)	kidney(1)	c.C2652T						scavenged	.	C	,	0,4406		0,0,2203	42	37	39		2652,2652	-8.3	0	17		39	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	MPRIP	NM_015134.3,NM_201274.3	,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,	884/1039,884/1026	17078669	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	23164	exon19			GGACGGCGGTGGG	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2652C>T	17.37:g.17078669C>T		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.598|6.598	0.478629|0.478629	0.12521|0.12521	0.0|0.0	1.16E-4|1.16E-4	ENSG00000133030|ENSG00000133030	ENST00000414263|ENST00000313485	.|.	.|.	.|.	5.77|5.77	-8.33|-8.33	0.00992|0.00992	.|.	.|.	.|.	.|.	.|.	T|T	0.17280|0.17280	0.0415|0.0415	.|.	.|.	.|.	0.19775|0.19775	N|N	0.999959|0.999959	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22661|0.22661	-1.0210|-1.0210	4|4	.|.	.|.	.|.	-11.5729|-11.5729	3.7501|3.7501	0.08563|0.08563	0.0776:0.285:0.2322:0.4052|0.0776:0.285:0.2322:0.4052	.|.	.|.	.|.	.|.	V|W	950|1249	.|.	.|.	A|R	+|+	2|1	0|2	MPRIP|MPRIP	17019394|17019394	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.736000|0.736000	0.42039|0.42039	-0.923000|-0.923000	0.04000|0.04000	-1.411000|-1.411000	0.02032|0.02032	-0.136000|-0.136000	0.14681|0.14681	GCG|CGG	.	.	weak		0.627	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		T	17078669	C	T	17078669	2	4	11	1	0	0	0	0	0	0	0	1	9743	755	27	1		1	MPRIP	17	17078669	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1010201	17078669	64116541	385	2670										
RAI1	10743	hgsc.bcm.edu	37	chr17	17699094	17699095	+	Frame_Shift_Del	DEL	CT	CT	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtccagagctggtttgagtcCtctctgtcacacatgaagcc							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:17699094_17699095delCT	ENST00000353383.1	+	3	3301_3302	c.2832_2833delCT	c.(2830-2835)tcctctfs	p.SS944fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.SS944fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	944					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGTTTGAGTCCTCTCTGTCACA	0.634																																					p.944_944del		Pindel,Atlas-Indel	.											.	RAI1	121	.	0			c.2831_2832del						PASS	.																																			SO:0001589	frameshift_variant	10743	exon3			.	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2832_2833delCT	17.37:g.17699098_17699099delCT	ENSP00000323074:p.Ser944fs	Somatic	125	.	.		WXS	Illumina HiSeq	Phase_I	126	41	0.325	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	CCDS11188.1																																																																																			.	.	none		0.634	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		-	17699095	CT	-	17699094	7	5	11	1	0	1	0	1	0	0	0	0	13007	668	24	0	2834	0	RAI1	17	17699094	Frame_Shift_Del	DEL	CT	TCGA-FF-8042-01A-11D-2210-10	620425	17699094	63496116	386	2671										
RAI1	10743	hgsc.bcm.edu	37	chr17	17701758	17701758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gaggcctgtgccgtgtggacCggcggcgtctacctggtggc	18	12	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:17701758C>T	ENST00000353383.1	+	3	5965	c.5496C>T	c.(5494-5496)acC>acT	p.T1832T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1832					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCGTGTGGACCGGCGGCGTCT	0.677																																					p.T1832T		Atlas-SNP	.											.	RAI1	121	.	0			c.C5496T						PASS	.						21	21	21					17																	17701758		2200	4298	6498	SO:0001819	synonymous_variant	10743	exon3			GTGGACCGGCGGC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5496C>T	17.37:g.17701758C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	24	11	0.458333	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																			.	.	none		0.677	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17701758	C	T	17701758	2	4	11	1	0	0	0	0	0	0	0	1	13007	639	23	1		1	RAI1	17	17701758	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2664	17701758	63493452	387	2672										
FBXW10	10517	hgsc.bcm.edu	37	chr17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	taggctgttttctggaaaagGagacataaccaagccagggt	12	7	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																					p.G245A		Atlas-SNP	.											FBXW10,NS,carcinoma,0,6	FBXW10	82	6	6	Substitution - Missense(6)	endometrium(6)	c.G734C						scavenged	.						231	173	193					17																	18653098		2203	4300	6503	SO:0001583	missense	10517	exon3			GAAAAGGAGACAT	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala	Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	295	5	0.0169492	NM_001267585	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA	G|0.750;C|0.250	0.250	weak		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		C	18653098	G	C	18653098	3	2	11	1	0	0	0	0	1	0	0	0	5763	1174	41	4	744	4	FBXW10	17	18653098	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	951340	18653098	62542112	388	2673										
SLC47A1	55244	hgsc.bcm.edu	37	chr17	19470152	19470152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttccaatttatgctgtttccCacctctttgaagctcttgct	5	12	2	1	rs547527862		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:19470152C>T	ENST00000270570.4	+	13	1242	c.1156C>T	c.(1156-1158)Cac>Tac	p.H386Y	SLC47A1_ENST00000436810.2_Missense_Mutation_p.H363Y|SLC47A1_ENST00000571335.1_Missense_Mutation_p.H191Y|SLC47A1_ENST00000395585.1_Missense_Mutation_p.H386Y|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.H386Y|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	386					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGCTGTTTCCCACCTCTTTGA	0.433																																					p.H386Y		Atlas-SNP	.											.	SLC47A1	55	.	0			c.C1156T						PASS	.						229	200	210					17																	19470152		2203	4300	6503	SO:0001583	missense	55244	exon13			GTTTCCCACCTCT		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1156C>T	17.37:g.19470152C>T	ENSP00000270570:p.His386Tyr	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	194	76	0.391753	NM_018242	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051596	0.55218	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.37	4.41	0.53225	.	0.213703	0.47852	D	0.000204	T	0.52517	0.1739	M	0.92026	3.265	0.80722	D	1	P;D;B;D;D	0.76494	0.951;0.999;0.295;0.994;0.978	P;D;B;D;P	0.72982	0.837;0.968;0.356;0.979;0.888	T	0.63967	-0.6517	10	0.07482	T	0.82	-3.635	12.7652	0.57388	0.0:0.9198:0.0:0.0802	.	120;363;120;386;386	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	Y	363;386;386;386;120;98	ENSP00000407155:H363Y;ENSP00000270570:H386Y;ENSP00000415586:H386Y;ENSP00000378951:H386Y	ENSP00000270570:H386Y	H	+	1	0	SLC47A1	19410744	0.998000	0.40836	0.995000	0.50966	0.563000	0.35712	4.492000	0.60334	1.277000	0.44412	-0.136000	0.14681	CAC	.	.	none		0.433	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19470152	C	T	19470152	3	4	11	1	0	0	0	0	1	0	0	0	14647	594	21	2	1206	2	SLC47A1	17	19470152	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	817054	19470152	61725058	389	2674										
GGNBP2	79893	hgsc.bcm.edu	37	chr17	34912947	34912947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atggtatgcttaagcaacagGatctaagtattgccatggtg	11	6	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:34912947G>T	ENST00000304718.4	+	4	515	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	67					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGCAACAGGATCTAAGTAT	0.443																																					p.D67Y		Atlas-SNP	.											.	GGNBP2	72	.	0			c.G199T						PASS	.						193	178	183					17																	34912947		2203	4300	6503	SO:0001583	missense	79893	exon4			CAACAGGATCTAA	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.199G>T	17.37:g.34912947G>T	ENSP00000307617:p.Asp67Tyr	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	90	30	0.333333	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274508	0.80580	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.36672	1.1	0.80722	D	1	P;P	0.52692	0.955;0.891	P;P	0.48141	0.549;0.568	T	0.64166	-0.6471	9	0.87932	D	0	-6.3477	18.5109	0.90916	0.0:0.0:1.0:0.0	.	67;67	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	Y	67	.	ENSP00000307617:D67Y	D	+	1	0	GGNBP2	31987060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.991000	0.93514	2.376000	0.81061	0.579000	0.79373	GAT	.	.	none		0.443	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		T	34912947	G	T	34912947	3	4	11	1	0	0	0	0	1	0	0	0	6359	1174	41	4	209	4	GGNBP2	17	34912947	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	15442795	34912947	46282263	390	2675										
AATF	26574	hgsc.bcm.edu	37	chr17	35307529	35307529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gacagccactgctgccagggTgattgacaggtttgatgaag	14	8	0	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:35307529T>C	ENST00000225402.5	+	2	358	c.107T>C	c.(106-108)gTg>gCg	p.V36A		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	36					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GCTGCCAGGGTGATTGACAGG	0.493																																					p.V36A	NSCLC(49;901 1159 19183 41572 46244)	Atlas-SNP	.											.	AATF	36	.	0			c.T107C						PASS	.						128	131	130					17																	35307529		2203	4300	6503	SO:0001583	missense	26574	exon2			CCAGGGTGATTGA	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.107T>C	17.37:g.35307529T>C	ENSP00000225402:p.Val36Ala	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	50	0.393701	NM_012138	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607702	0.87157	.	.	ENSG00000108270	ENST00000225402	T	0.38887	1.11	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.76574	2.34	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.59440	-0.7454	10	0.10902	T	0.67	-15.8584	15.3994	0.74827	0.0:0.0:0.0:1.0	.	36	Q9NY61	AATF_HUMAN	A	36	ENSP00000225402:V36A	ENSP00000225402:V36A	V	+	2	0	AATF	32381642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.762000	0.74950	2.117000	0.64856	0.402000	0.26972	GTG	.	.	none		0.493	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		C	35307529	T	C	35307529	3	2	11	1	0	0	0	0	1	0	0	0	25	1696	59	2	113	2	AATF	17	35307529	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	394582	35307529	45887681	391	2676										
CASC3	22794	hgsc.bcm.edu	37	chr17	38325589	38325589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtcccaggccccatcacagGtatatggaggagtgacctac	12	12	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:38325589G>A	ENST00000264645.7	+	12	2204	c.1978G>A	c.(1978-1980)Gta>Ata	p.V660I		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	660	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCCATCACAGGTATATGGAGG	0.537																																					p.V660I		Atlas-SNP	.											.	CASC3	39	.	0			c.G1978A						PASS	.						80	90	87					17																	38325589		2203	4300	6503	SO:0001583	missense	22794	exon12			TCACAGGTATATG	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1978G>A	17.37:g.38325589G>A	ENSP00000264645:p.Val660Ile	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	206	68	0.330097	NM_007359	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120484	0.94385	.	.	ENSG00000108349	ENST00000264645;ENST00000394114	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.66748	-0.5845	9	0.49607	T	0.09	-11.1308	18.5194	0.90947	0.0:0.0:1.0:0.0	.	660	O15234	CASC3_HUMAN	I	660	.	ENSP00000264645:V660I	V	+	1	0	CASC3	35579115	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.121000	0.94375	2.778000	0.95560	0.655000	0.94253	GTA	.	.	none		0.537	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		A	38325589	G	A	38325589	3	1	11	1	0	0	0	0	1	0	0	0	2661	1261	44	2	2024	2	CASC3	17	38325589	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	3018060	38325589	42869621	392	2677										
CDC6	990	hgsc.bcm.edu	37	chr17	38457274	38457274	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaaaatcaaagaggtcactCtggggaaggtaagttgggat	14	4	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:38457274C>T	ENST00000209728.4	+	10	1915	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	482					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGAGGTCACTCTGGGGAAGGT	0.463																																					p.L482L		Atlas-SNP	.											CDC6,NS,carcinoma,-2,1	CDC6	53	1	0			c.C1444T						scavenged	.						116	103	107					17																	38457274		2203	4300	6503	SO:0001819	synonymous_variant	990	exon10			GTCACTCTGGGGA	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1444C>T	17.37:g.38457274C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	168	2	0.0119048	NM_001254	Q8TB30	Silent	SNP	ENST00000209728.4	37	CCDS11365.1																																																																																			.	.	none		0.463	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			T	38457274	C	T	38457274	2	4	11	1	0	0	0	0	0	0	0	1	3083	912	32	2		2	CDC6	17	38457274	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	131685	38457274	42737936	393	2678										
KRT12	3859	hgsc.bcm.edu	37	chr17	39019783	39019783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctccaggttctgaaaggcgCgacgcaggtcggtgacctcg	14	12	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:39019783C>T	ENST00000251643.4	-	5	1072	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	350	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTGAAAGGCGCGACGCAGGTC	0.562																																					p.R350H		Atlas-SNP	.											.	KRT12	53	.	0			c.G1049A						PASS	.						80	66	71					17																	39019783		2203	4300	6503	SO:0001583	missense	3859	exon5			AAGGCGCGACGCA		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1049G>A	17.37:g.39019783C>T	ENSP00000251643:p.Arg350His	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	99	36	0.363636	NM_000223	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178992	0.78564	.	.	ENSG00000187242	ENST00000251643	D	0.90504	-2.68	5.44	5.44	0.79542	Filament (1);	0.000000	0.49305	D	0.000145	D	0.93167	0.7824	M	0.84156	2.68	0.53688	D	0.999972	D	0.69078	0.997	P	0.51101	0.659	D	0.93791	0.7092	10	0.62326	D	0.03	.	14.4797	0.67573	0.0:0.9274:0.0:0.0726	.	350	Q99456	K1C12_HUMAN	H	350	ENSP00000251643:R350H	ENSP00000251643:R350H	R	-	2	0	KRT12	36273309	1.000000	0.71417	0.959000	0.39883	0.443000	0.32047	3.335000	0.52105	2.542000	0.85734	0.491000	0.48974	CGC	.	.	none		0.562	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		T	39019783	C	T	39019783	3	4	11	1	0	0	0	0	1	0	0	0	8449	768	27	1	451	1	KRT12	17	39019783	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	562509	39019783	42175427	394	2679										
KLHL10	317719	hgsc.bcm.edu	37	chr17	39994253	39994253	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atggagaggaagatgagtgcGatggcctgtgagatcttcaa	15	5	2	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:39994253G>A	ENST00000293303.4	+	1	222	c.69G>A	c.(67-69)gcG>gcA	p.A23A	NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000269534.8_5'Flank	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGATGAGTGCGATGGCCTGTG	0.562																																					p.A23A		Atlas-SNP	.											KLHL10,caecum,carcinoma,+1,1	KLHL10	67	1	0			c.G69A						scavenged	.						144	143	144					17																	39994253		2083	4210	6293	SO:0001819	synonymous_variant	317719	exon1			GAGTGCGATGGCC	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.69G>A	17.37:g.39994253G>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_152467	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																			.	.	none		0.562	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		A	39994253	G	A	39994253	2	1	11	1	0	0	0	0	0	0	0	1	8366	1045	37	1		1	KLHL10	17	39994253	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	974470	39994253	41200957	395	2680										
HELZ	9931	hgsc.bcm.edu	37	chr17	65186460	65186460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caccatacctacagattcctTgttctaaaaatctaagtaga	4	10	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:65186460T>C	ENST00000358691.5	-	10	735	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.Q190R	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	190						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)					ACAGATTCCTTGTTCTAAAAA	0.363																																					p.Q190R		Atlas-SNP	.											.	HELZ	160	.	0			c.A569G						PASS	.						108	98	101					17																	65186460		1841	4088	5929	SO:0001583	missense	9931	exon10			ATTCCTTGTTCTA	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.569A>G	17.37:g.65186460T>C	ENSP00000351524:p.Gln190Arg	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	144	57	0.395833	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.678552	0.29783	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	T;T	0.40476	1.03;1.03	5.38	4.3	0.51218	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.56769	1.78	0.58432	D	0.999997	P;P	0.49961	0.93;0.529	P;B	0.52189	0.692;0.198	T	0.44097	-0.9350	10	0.44086	T	0.13	-11.9044	11.1502	0.48453	0.0:0.0722:0.0:0.9278	.	190;190	B7ZLW2;P42694	.;HELZ_HUMAN	R	190	ENSP00000351524:Q190R;ENSP00000411144:Q190R	ENSP00000351524:Q190R	Q	-	2	0	HELZ	62616922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.003000	0.57061	0.894000	0.36317	0.533000	0.62120	CAA	.	.	none		0.363	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		C	65186460	T	C	65186460	3	2	11	1	0	0	0	0	1	0	0	0	7049	1812	63	2	5355	2	HELZ	17	65186460	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	25192207	65186460	16008750	396	2681										
ABCA9	10350	hgsc.bcm.edu	37	chr17	67020435	67020435	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgtcaatttggcatcagagAtgtgctgcttaaccagtgat	10	8	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:67020435A>G	ENST00000340001.4	-	17	2412	c.2201T>C	c.(2200-2202)aTc>aCc	p.I734T	ABCA9_ENST00000453985.2_Missense_Mutation_p.I734T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I734T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	734					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGCATCAGAGATGTGCTGCTT	0.323																																					p.I734T		Atlas-SNP	.											ABCA9,NS,carcinoma,0,1	ABCA9	192	1	0			c.T2201C						scavenged	.						70	62	65					17																	67020435		2203	4300	6503	SO:0001583	missense	10350	exon17			TCAGAGATGTGCT	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2201T>C	17.37:g.67020435A>G	ENSP00000342216:p.Ile734Thr	Somatic	351	1	0.002849		WXS	Illumina HiSeq	Phase_I	303	4	0.0132013	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535215	0.64972	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86297	-2.1;-2.1	4.68	4.68	0.58851	.	0.136342	0.32473	N	0.006055	D	0.95506	0.8540	H	0.97340	3.985	0.46725	D	0.999179	D;D	0.76494	0.999;0.981	D;P	0.70487	0.969;0.852	D	0.96771	0.9568	10	0.87932	D	0	.	13.2291	0.59931	1.0:0.0:0.0:0.0	.	734;734	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	734;717;734;729	ENSP00000342216:I734T;ENSP00000359767:I734T	ENSP00000342216:I734T	I	-	2	0	ABCA9	64532030	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	8.196000	0.89725	1.875000	0.54330	0.443000	0.29094	ATC	.	.	none		0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		G	67020435	A	G	67020435	3	3	11	1	0	0	0	0	1	0	0	0	39	333	12	2	2765	2	ABCA9	17	67020435	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1833975	67020435	14174775	397	2682										
SDK2	54549	hgsc.bcm.edu	37	chr17	71346425	71346425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagttcttgacggagagccGcctgttgttgagttccaggg	15	8	1	4	rs369870973	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:71346425G>A	ENST00000392650.3	-	43	5989	c.5989C>T	c.(5989-5991)Cgg>Tgg	p.R1997W	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.R1978W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1997					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGGAGAGCCGCCTGTTGTTG	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.0031				p.R1997W		Atlas-SNP	.											SDK2,acral,malignant_melanoma,+1,1	SDK2	219	1	0			c.C5989T						scavenged	.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	88	69	76		5989	1	0.1	17		76	0,8600		0,0,4300	no	missense	SDK2	NM_001144952.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1997/2173	71346425	1,13005	2203	4300	6503	SO:0001583	missense	54549	exon43			AGAGCCGCCTGTT	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5989C>T	17.37:g.71346425G>A	ENSP00000376421:p.Arg1997Trp	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	69	2	0.0289855	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765051	0.69878	2.27E-4	0.0	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61980	0.06;0.08;1.39	5.53	1.0	0.19881	.	0.064516	0.64402	D	0.000007	T	0.73837	0.3638	L	0.59436	1.845	0.45490	D	0.998451	D;D	0.89917	0.999;1.0	D;D	0.75484	0.929;0.986	T	0.75141	-0.3422	10	0.87932	D	0	.	14.9281	0.70896	0.0:0.0:0.4935:0.5065	.	1997;1978	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	W	1621;1997;1978;1154;1997;338	ENSP00000376421:R1997W;ENSP00000373378:R1978W;ENSP00000407098:R1154W	ENSP00000324967:R1997W	R	-	1	2	SDK2	68858020	0.999000	0.42202	0.133000	0.22050	0.984000	0.73092	2.872000	0.48467	-0.025000	0.13918	0.650000	0.86243	CGG	.	.	weak		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71346425	G	A	71346425	3	1	11	1	0	0	0	0	1	0	0	0	13969	1086	38	1	541	1	SDK2	17	71346425	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	4325990	71346425	9848785	398	2683										
DNAI2	64446	hgsc.bcm.edu	37	chr17	72287205	72287205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgaagccatcgtctccactCgtgacgttggagttcaaccc	9	14	2	2	rs539461253		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:72287205C>T	ENST00000311014.6	+	6	724	c.657C>T	c.(655-657)ctC>ctT	p.L219L	DNAI2_ENST00000579490.1_Silent_p.L276L|DNAI2_ENST00000582036.1_Silent_p.L219L|DNAI2_ENST00000446837.2_Silent_p.L219L|DNAI2_ENST00000307504.5_Silent_p.L76L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	219					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTCTCCACTCGTGACGTTGG	0.463									Kartagener syndrome																												p.L219L		Atlas-SNP	.											.	DNAI2	102	.	0			c.C657T						PASS	.						183	189	187					17																	72287205		2203	4300	6503	SO:0001819	synonymous_variant	64446	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCCACTCGTGACG	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.657C>T	17.37:g.72287205C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	111	53	0.477477	NM_001172810	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	CCDS11697.1																																																																																			.	.	none		0.463	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		T	72287205	C	T	72287205	2	4	11	1	0	0	0	0	0	0	0	1	4610	871	31	1		1	DNAI2	17	72287205	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	940780	72287205	8908005	399	2684										
HN1	51155	hgsc.bcm.edu	37	chr17	73132201	73132201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ttcaggacagtcagagctaaCccaagacgaggctggacttg	12	10	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:73132201C>T	ENST00000409753.3	-	5	746	c.461G>A	c.(460-462)gGt>gAt	p.G154D	HN1_ENST00000392566.2_Missense_Mutation_p.G108D|HN1_ENST00000482348.1_Missense_Mutation_p.G108D|RP11-649A18.5_ENST00000584339.1_RNA|HN1_ENST00000481647.1_Missense_Mutation_p.G108D|HN1_ENST00000356033.4_Missense_Mutation_p.V148I|HN1_ENST00000476258.1_Missense_Mutation_p.G108D|HN1_ENST00000470924.1_Missense_Mutation_p.G108D|HN1_ENST00000405458.3_Missense_Mutation_p.G108D	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	154					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TCAGAGCTAACCCAAGACGAG	0.582																																					p.G154D		Atlas-SNP	.											.	HN1	17	.	0			c.G461A						PASS	.						81	78	79					17																	73132201		2203	4300	6503	SO:0001583	missense	51155	exon5			AGCTAACCCAAGA	AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"androgen-regulated protein 2"					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.461G>A	17.37:g.73132201C>T	ENSP00000387059:p.Gly154Asp	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	128	49	0.382812	NM_016185	B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	CCDS45771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.658406|4.658406	0.88154|0.88154	.|.	.|.	ENSG00000189159|ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000392566|ENST00000356033	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.921149	.|0.09115	.|N	.|0.846595	T|T	0.57227|0.57227	0.2039|0.2039	.|.	.|.	.|.	0.48040|0.48040	D|D	0.999573|0.999573	D|P	0.89917|0.39480	1.0|0.675	D|B	0.91635|0.36134	0.999|0.218	T|T	0.59915|0.59915	-0.7364|-0.7364	7|8	0.87932|0.87932	D|D	0|0	-20.073|-20.073	18.3821|18.3821	0.90454|0.90454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	154|148	Q9UK76|Q9UK76-2	HN1_HUMAN|.	D|I	108;154;108|148	.|.	ENSP00000440912:G108D|ENSP00000348316:V148I	G|V	-|-	2|1	0|0	HN1|HN1	70643796|70643796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	4.949000|4.949000	0.63596|0.63596	2.773000|2.773000	0.95371|0.95371	0.643000|0.643000	0.83706|0.83706	GGT|GTT	.	.	none		0.582	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		T	73132201	C	T	73132201	3	4	11	1	0	0	0	0	1	0	0	0	7249	507	18	2	107	2	HN1	17	73132201	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	844996	73132201	8063009	400	2685										
ACOX1	51	hgsc.bcm.edu	37	chr17	73944495	73944495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gagtgagtaactcctttacaCgctggtttacttgtgtaatc	9	8	0	1	rs369561903		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:73944495C>T	ENST00000301608.4	-	13	1832	c.1772G>A	c.(1771-1773)cGt>cAt	p.R591H	ACOX1_ENST00000293217.5_Missense_Mutation_p.R591H|ACOX1_ENST00000537812.1_Missense_Mutation_p.R553H	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	591					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CTCCTTTACACGCTGGTTTAC	0.388																																					p.R591H		Atlas-SNP	.											ACOX1_ENST00000301608,caecum,carcinoma,-1,2	ACOX1	85	2	0			c.G1772A						scavenged	.	T	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	157	135	143		1658,1772,1772	2.2	0.1	17		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	553/623,591/661,591/661	73944495	1,13005	2203	4300	6503	SO:0001583	missense	51	exon13			TTTACACGCTGGT	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1772G>A	17.37:g.73944495C>T	ENSP00000301608:p.Arg591His	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	58	3	0.0517241	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.360962	0.24684	0.0	1.16E-4	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.44881	0.91;0.91;0.91	5.25	2.23	0.28157	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.099482	0.64402	N	0.000003	T	0.36413	0.0966	L	0.58669	1.825	0.27295	N	0.957734	B;B;B;B	0.16166	0.006;0.003;0.016;0.007	B;B;B;B	0.12156	0.005;0.005;0.007;0.003	T	0.27938	-1.0059	10	0.33940	T	0.23	-11.4201	10.7402	0.46149	0.0:0.7301:0.0:0.2699	.	523;553;591;591	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	H	591;591;553;591;523	ENSP00000301608:R591H;ENSP00000293217:R591H;ENSP00000441257:R553H	ENSP00000293217:R591H	R	-	2	0	ACOX1	71456090	0.882000	0.30256	0.075000	0.20258	0.408000	0.30992	1.744000	0.38268	0.891000	0.36235	-0.726000	0.03593	CGT	.	.	weak		0.388	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			T	73944495	C	T	73944495	3	4	11	1	0	0	0	0	1	0	0	0	158	536	19	1	218	1	ACOX1	17	73944495	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	812294	73944495	7250715	401	2686										
ACOX1	51	hgsc.bcm.edu	37	chr17	73945827	73945827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acggagtttatatgcttcggTtaggctttcggggctgttga	14	6	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr17:73945827T>G	ENST00000301608.4	-	10	1510	c.1450A>C	c.(1450-1452)Acc>Ccc	p.T484P	ACOX1_ENST00000293217.5_Missense_Mutation_p.T484P|ACOX1_ENST00000537812.1_Missense_Mutation_p.T446P	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	484					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TATGCTTCGGTTAGGCTTTCG	0.562																																					p.T484P		Atlas-SNP	.											.	ACOX1	85	.	0			c.A1450C						PASS	.						117	93	101					17																	73945827		2203	4300	6503	SO:0001583	missense	51	exon10			CTTCGGTTAGGCT	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1450A>C	17.37:g.73945827T>G	ENSP00000301608:p.Thr484Pro	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	147	58	0.394558	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066538	0.36470	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.46819	0.86;0.86;0.86	5.62	1.07	0.20283	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.418244	0.27060	N	0.021135	T	0.51770	0.1694	M	0.73962	2.25	0.09310	N	0.999999	P;P;P;P	0.50369	0.688;0.838;0.536;0.934	B;P;P;P	0.50082	0.43;0.63;0.566;0.513	T	0.45323	-0.9269	10	0.56958	D	0.05	-4.3019	7.6917	0.28571	0.0:0.5105:0.0:0.4895	.	416;446;484;484	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	P	484;484;446;484;416	ENSP00000301608:T484P;ENSP00000293217:T484P;ENSP00000441257:T446P	ENSP00000293217:T484P	T	-	1	0	ACOX1	71457422	0.350000	0.24878	0.002000	0.10522	0.230000	0.25150	1.643000	0.37217	0.428000	0.26173	0.528000	0.53228	ACC	.	.	none		0.562	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			G	73945827	T	G	73945827	3	3	11	1	0	0	0	0	1	0	0	0	158	1725	60	5	552	5	ACOX1	17	73945827	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1332	73945827	7249383	402	2687										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3188926	3188926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctgtggactgcttggatgcCgtggactgcttagatgccgt	15	9	0	1	rs532272499		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:3188926C>T	ENST00000356443.4	-	4	924	c.591G>A	c.(589-591)acG>acA	p.T197T	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.T197T|MYOM1_ENST00000261606.7_Silent_p.T197T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	197	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T197T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCCGTGGACTGCT	0.537																																					p.T197T		Atlas-SNP	.											MYOM1,NS,carcinoma,0,1	MYOM1	192	1	1	Substitution - coding silent(1)	endometrium(1)	c.G591A						scavenged	.						310	295	300					18																	3188926		2061	4192	6253	SO:0001819	synonymous_variant	8736	exon4			GGATGCCGTGGAC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.591G>A	18.37:g.3188926C>T		Somatic	269	2	0.00743494		WXS	Illumina HiSeq	Phase_I	462	6	0.012987	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			.	.	none		0.537	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		T	3188926	C	T	3188926	2	4	11	1	0	0	0	0	0	0	0	1	10091	639	23	1		1	MYOM1	18	3188926	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10		3188926	74888322	403	2688										
KIAA0802	23255	hgsc.bcm.edu	37	chr18	8825287	8825287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acggcgcccccttgatagtcCcctctgtacctccctggggt	10	17	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:8825287C>T	ENST00000306329.11	+	13	4736	c.4736C>T	c.(4735-4737)cCc>cTc	p.P1579L	SOGA2_ENST00000306285.7_Missense_Mutation_p.P585L|SOGA2_ENST00000400050.3_Missense_Mutation_p.P1219L|SOGA2_ENST00000518815.1_Missense_Mutation_p.P585L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1219L|SOGA2_ENST00000359865.3_Missense_Mutation_p.P1260L														p.P1260L(1)									CTTGATAGTCCCCTCTGTACC	0.612																																					p.P1260L		Atlas-SNP	.											CCDC165,scalp,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	skin(1)	c.C3779T						scavenged	.						41	40	40					18																	8825287		2203	4300	6503	SO:0001583	missense	23255	exon15			ATAGTCCCCTCTG																												ENST00000306329.11:c.4736C>T	18.37:g.8825287C>T	ENSP00000305027:p.Pro1579Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	91	2	0.021978	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	6.308	0.424917	0.11987	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.33216	2.46;2.43;2.46;1.42	5.24	5.24	0.73138	.	0.845097	0.10140	N	0.710976	T	0.47266	0.1436	L	0.49126	1.545	0.43583	D	0.995922	P;P	0.51791	0.717;0.948	B;P	0.53861	0.211;0.736	T	0.31916	-0.9926	10	0.42905	T	0.14	-6.1189	18.8187	0.92088	0.0:1.0:0.0:0.0	.	1570;1260	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	1281;1219;1260;1219;585	ENSP00000429556:P1219L;ENSP00000352927:P1260L;ENSP00000382924:P1219L;ENSP00000303670:P585L	ENSP00000303670:P585L	P	+	2	0	CCDC165	8815287	0.836000	0.29430	0.379000	0.26080	0.055000	0.15305	7.463000	0.80869	2.448000	0.82819	0.655000	0.94253	CCC	.	.	none		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8825287	C	T	8825287	3	4	11	1	0	0	0	0	1	0	0	0	8194	623	22	2	3829	2	KIAA0802	18	8825287	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5636361	8825287	69251961	404	2689										
ZNF519	162655	hgsc.bcm.edu	37	chr18	14105585	14105585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cattccttacacttgaaaggCttctctccagtatggattct	6	11	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:14105585C>T	ENST00000590202.1	-	3	1106	c.954G>A	c.(952-954)aaG>aaA	p.K318K	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	318					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTTGAAAGGCTTCTCTCCAG	0.393																																					p.K318K		Atlas-SNP	.											ZNF519,NS,carcinoma,0,1	ZNF519	53	1	0			c.G954A						PASS	.						82	84	83					18																	14105585		2203	4300	6503	SO:0001819	synonymous_variant	162655	exon3			GAAAGGCTTCTCT	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.954G>A	18.37:g.14105585C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_145287		Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																			.	.	none		0.393	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		T	14105585	C	T	14105585	2	4	11	1	0	0	0	0	0	0	0	1	17961	796	28	2		2	ZNF519	18	14105585	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5280298	14105585	63971663	405	2690										
ANKRD30B	374860	hgsc.bcm.edu	37	chr18	14787093	14787093	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gatgaagaaaattcttgggaTtctgaggtactatgtgttat	11	3	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:14787093T>A	ENST00000358984.4	+	15	1908	c.1728T>A	c.(1726-1728)gaT>gaA	p.D576E	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D576E|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	576										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATTCTTGGGATTCTGAGGTAC	0.313																																					p.D576E		Atlas-SNP	.											.	ANKRD30B	237	.	0			c.T1728A						PASS	.						163	140	147					18																	14787093		692	1585	2277	SO:0001583	missense	374860	exon15			TTGGGATTCTGAG	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.1728T>A	18.37:g.14787093T>A	ENSP00000351875:p.Asp576Glu	Somatic	367	0	0		WXS	Illumina HiSeq	Phase_I	478	74	0.154812	NM_001145029	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	14.45	2.540315	0.45176	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.58210	0.37;0.35	1.15	1.15	0.20763	.	.	.	.	.	T	0.60560	0.2278	L	0.61218	1.895	0.20975	N	0.999819	D	0.55605	0.972	P	0.62184	0.899	T	0.46331	-0.9199	9	0.51188	T	0.08	.	4.5356	0.12026	0.0:0.0:0.0:1.0	.	576	F8WAG3	.	E	576	ENSP00000351875:D576E;ENSP00000399031:D576E	ENSP00000351875:D576E	D	+	3	2	ANKRD30B	14777093	0.996000	0.38824	0.911000	0.35937	0.011000	0.07611	1.029000	0.30140	0.788000	0.33755	0.241000	0.17934	GAT	.	.	none		0.313	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14787093	T	A	14787093	3	1	11	1	0	0	0	0	1	0	0	0	659	1490	52	5	1786	5	ANKRD30B	18	14787093	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	681508	14787093	63290155	406	2691										
ANKRD29	147463	hgsc.bcm.edu	37	chr18	21197729	21197729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagtgggtgagaatttaagCaactcttttatgacatcatt	9	5	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:21197729C>T	ENST00000592179.1	-	8	844	c.690G>A	c.(688-690)ttG>ttA	p.L230L	ANKRD29_ENST00000284207.7_Silent_p.L230L|ANKRD29_ENST00000322980.9_Silent_p.L230L|ANKRD29_ENST00000586511.1_5'Flank	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	230										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAATTTAAGCAACTCTTTTA	0.343																																					p.L230L		Atlas-SNP	.											.	ANKRD29	24	.	0			c.G690A						PASS	.						145	133	137					18																	21197729		2202	4300	6502	SO:0001819	synonymous_variant	147463	exon8			TTTAAGCAACTCT	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.690G>A	18.37:g.21197729C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	177	28	0.158192	NM_173505	B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	CCDS11879.1																																																																																			.	.	none		0.343	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		T	21197729	C	T	21197729	2	4	11	1	0	0	0	0	0	0	0	1	657	709	25	2		2	ANKRD29	18	21197729	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	6410636	21197729	56879519	407	2692										
ZNF521	25925	hgsc.bcm.edu	37	chr18	22669489	22669489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtacagtcatagatcttgtcTtcttgtccatgggcagagaa	10	8	4	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:22669489T>G	ENST00000361524.3	-	7	3994	c.3846A>C	c.(3844-3846)gaA>gaC	p.E1282D	ZNF521_ENST00000584787.1_Missense_Mutation_p.E1062D|ZNF521_ENST00000538137.2_Missense_Mutation_p.E1282D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1282					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGATCTTGTCTTCTTGTCCAT	0.403			T	PAX5	ALL																																p.E1282D		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.A3846C						PASS	.						190	173	179					18																	22669489		2203	4300	6503	SO:0001583	missense	25925	exon7			CTTGTCTTCTTGT	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3846A>C	18.37:g.22669489T>G	ENSP00000354794:p.Glu1282Asp	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	472	70	0.148305	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804717	0.31961	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.09445	2.98	5.79	4.62	0.57501	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.17746	0.0426	N	0.24115	0.695	0.38064	D	0.93617	D	0.63046	0.992	D	0.77004	0.989	T	0.06144	-1.0843	10	0.48119	T	0.1	-20.6004	9.4859	0.38928	0.0:0.1539:0.0:0.8461	.	1282	Q96K83	ZN521_HUMAN	D	1282;1316;1282	ENSP00000354794:E1282D	ENSP00000354794:E1282D	E	-	3	2	ZNF521	20923487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.711000	0.47177	0.998000	0.38996	0.528000	0.53228	GAA	.	.	none		0.403	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		G	22669489	T	G	22669489	3	3	11	1	0	0	0	0	1	0	0	0	17962	1606	56	5	97	5	ZNF521	18	22669489	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	1471760	22669489	55407759	408	2693										
ZNF521	25925	hgsc.bcm.edu	37	chr18	22804688	22804688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaggcaagatgcgcacttaTacagtttttggacgtgctgg	13	7	0	2	rs576191621		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:22804688T>G	ENST00000361524.3	-	4	3342	c.3194A>C	c.(3193-3195)tAt>tCt	p.Y1065S	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y845S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y1065S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1065					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)	p.Y1065F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCGCACTTATACAGTTTTTG	0.502			T	PAX5	ALL																																p.Y1065S		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	ZNF521,lymph_node,lymphoid_neoplasm,0,1	ZNF521	269	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A3194C						PASS	.						73	62	66					18																	22804688		2203	4300	6503	SO:0001583	missense	25925	exon4			CACTTATACAGTT	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3194A>C	18.37:g.22804688T>G	ENSP00000354794:p.Tyr1065Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	162	28	0.17284	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.873	1.199473	0.22121	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10005	3.0;2.92	5.86	5.86	0.93980	.	0.120227	0.64402	D	0.000019	T	0.18635	0.0447	L	0.27053	0.805	0.34858	D	0.742331	P	0.49862	0.929	P	0.56398	0.797	T	0.10086	-1.0645	10	0.87932	D	0	-45.4225	16.2652	0.82574	0.0:0.0:0.0:1.0	.	1065	Q96K83	ZN521_HUMAN	S	1065;1099;1065	ENSP00000354794:Y1065S;ENSP00000382352:Y1065S	ENSP00000354794:Y1065S	Y	-	2	0	ZNF521	21058686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.773000	0.55333	2.241000	0.73720	0.528000	0.53228	TAT	.	.	none		0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		G	22804688	T	G	22804688	3	3	11	1	0	0	0	0	1	0	0	0	17962	1406	49	5	761	5	ZNF521	18	22804688	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	135199	22804688	55272560	409	2694										
KLHL14	57565	hgsc.bcm.edu	37	chr18	30257201	30257201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactgcacagccagggccacTtcgaccctccaaaatgggag	10	15	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:30257201T>G	ENST00000359358.4	-	8	2119	c.1681A>C	c.(1681-1683)Agt>Cgt	p.S561R		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	561						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGGCCACTTCGACCCTCC	0.468																																					p.S561R		Atlas-SNP	.											.	KLHL14	92	.	0			c.A1681C						PASS	.						168	140	150					18																	30257201		2203	4300	6503	SO:0001583	missense	57565	exon8			GGCCACTTCGACC	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1681A>C	18.37:g.30257201T>G	ENSP00000352314:p.Ser561Arg	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	273	56	0.205128	NM_020805	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720055	0.89205	.	.	ENSG00000197705	ENST00000359358	T	0.80994	-1.44	5.73	5.73	0.89815	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	L	0.35288	1.05	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.83414	0.0029	10	0.34782	T	0.22	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	561	Q9P2G3	KLH14_HUMAN	R	561	ENSP00000352314:S561R	ENSP00000352314:S561R	S	-	1	0	KLHL14	28511199	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.648000	0.83479	2.302000	0.77476	0.533000	0.62120	AGT	.	.	none		0.468	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			G	30257201	T	G	30257201	3	3	11	1	0	0	0	0	1	0	0	0	8370	1609	56	5	213	5	KLHL14	18	30257201	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	7452513	30257201	47820047	410	2695										
NOL4	8715	hgsc.bcm.edu	37	chr18	31599400	31599400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgtattccgaagttagctgcGcagagaggggactgtcactc	13	9	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:31599400G>A	ENST00000261592.5	-	6	1235	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL4_ENST00000269185.4_Missense_Mutation_p.A199V|NOL4_ENST00000538587.1_Missense_Mutation_p.A239V|NOL4_ENST00000535475.1_Missense_Mutation_p.A158V|NOL4_ENST00000535384.1_Missense_Mutation_p.A28V|NOL4_ENST00000589544.1_Missense_Mutation_p.A313V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	313						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGTTAGCTGCGCAGAGAGGGG	0.473																																					p.A313V		Atlas-SNP	.											NOL4,NS,NS,+1,1	NOL4	139	1	0			c.C938T						scavenged	.						177	152	160					18																	31599400		2203	4300	6503	SO:0001583	missense	8715	exon6			AGCTGCGCAGAGA	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.938C>T	18.37:g.31599400G>A	ENSP00000261592:p.Ala313Val	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	378	4	0.010582	NM_003787	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060129	0.55432	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.75	5.75	0.90469	.	0.313238	0.31450	N	0.007623	D	0.88058	0.6335	L	0.39898	1.24	0.36284	D	0.855959	D;P;P;P;P;P;P;P	0.71674	0.998;0.901;0.854;0.733;0.519;0.854;0.938;0.733	P;B;B;B;B;B;B;B	0.62184	0.899;0.187;0.162;0.084;0.123;0.162;0.164;0.084	D	0.90593	0.4538	10	0.62326	D	0.03	-12.5903	15.4215	0.75015	0.0:0.1384:0.8616:0.0	.	199;62;28;239;313;28;313;158	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	V	313;199;62;28;158;239	ENSP00000261592:A313V;ENSP00000269185:A199V;ENSP00000445733:A28V;ENSP00000438190:A158V;ENSP00000443472:A239V	ENSP00000261592:A313V	A	-	2	0	NOL4	29853398	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	3.877000	0.56123	2.730000	0.93505	0.542000	0.68232	GCG	.	.	none		0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		A	31599400	G	A	31599400	3	1	11	1	0	0	0	0	1	0	0	0	10524	1087	38	1	1002	1	NOL4	18	31599400	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1342199	31599400	46477848	411	2696										
GALNT1	2589	hgsc.bcm.edu	37	chr18	33283603	33283603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccaactctgggagtatgaccCagtggtaagttatgcagttg	12	8	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:33283603C>T	ENST00000269195.5	+	10	1632	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	GALNT1_ENST00000537549.1_Missense_Mutation_p.P450L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	510	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGTATGACCCAGTGGTAAGT	0.388																																					p.P510L		Atlas-SNP	.											.	GALNT1	53	.	0			c.C1529T						PASS	.						72	71	71					18																	33283603		2203	4300	6503	SO:0001583	missense	2589	exon10			ATGACCCAGTGGT		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1529C>T	18.37:g.33283603C>T	ENSP00000269195:p.Pro510Leu	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	100	14	0.14	NM_020474	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879507	0.51801	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.77877	-1.13;-1.13	5.72	4.83	0.62350	Ricin B-related lectin (1);Ricin B lectin (3);	0.045423	0.85682	D	0.000000	T	0.68183	0.2973	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.63950	-0.6521	10	0.46703	T	0.11	.	13.7188	0.62714	0.1552:0.8448:0.0:0.0	.	510	Q10472	GALT1_HUMAN	L	510;510;450	ENSP00000269195:P510L;ENSP00000440910:P450L	ENSP00000269195:P510L	P	+	2	0	GALNT1	31537601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.777000	0.62361	1.373000	0.46208	0.585000	0.79938	CCA	.	.	none		0.388	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		T	33283603	C	T	33283603	3	4	11	1	0	0	0	0	1	0	0	0	6207	594	21	2	1567	2	GALNT1	18	33283603	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1684203	33283603	44793645	412	2697										
MBD1	4152	hgsc.bcm.edu	37	chr18	47799950	47799950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcacctgcaacagggcttctGtggaagctgcaacagggccc	12	13	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:47799950G>T	ENST00000591416.1	-	12	1861	c.1430C>A	c.(1429-1431)aCa>aAa	p.T477K	MBD1_ENST00000457839.2_Missense_Mutation_p.T502K|MBD1_ENST00000269471.5_Missense_Mutation_p.T454K|MBD1_ENST00000585595.1_Missense_Mutation_p.T502K|MBD1_ENST00000339998.6_Missense_Mutation_p.T477K|MBD1_ENST00000347968.3_Missense_Mutation_p.T421K|MBD1_ENST00000398495.2_Missense_Mutation_p.T446K|MBD1_ENST00000424334.2_Missense_Mutation_p.T528K|MBD1_ENST00000436910.1_Missense_Mutation_p.T454K|MBD1_ENST00000398493.1_Missense_Mutation_p.T421K|MBD1_ENST00000269468.5_Missense_Mutation_p.T477K|MBD1_ENST00000349085.2_Missense_Mutation_p.T421K|MBD1_ENST00000398488.1_Missense_Mutation_p.T421K|MBD1_ENST00000588937.1_Missense_Mutation_p.T454K|MBD1_ENST00000353909.3_Missense_Mutation_p.T428K|MBD1_ENST00000590208.1_Missense_Mutation_p.T477K|MBD1_ENST00000587605.1_Missense_Mutation_p.T421K|MBD1_ENST00000382948.5_Missense_Mutation_p.T477K|MBD1_ENST00000585672.1_Missense_Mutation_p.T427K|MBD1_ENST00000591535.1_Missense_Mutation_p.T454K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	477					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAGGGCTTCTGTGGAAGCTGC	0.637																																					p.T502K		Atlas-SNP	.											MBD1_ENST00000457839,NS,malignant_melanoma,-1,4	MBD1	228	4	0			c.C1505A						scavenged	.						37	38	38					18																	47799950		2203	4300	6503	SO:0001583	missense	4152	exon13			GCTTCTGTGGAAG	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1430C>A	18.37:g.47799950G>T	ENSP00000467017:p.Thr477Lys	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	88	2	0.0227273	NM_001204137	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676006	0.47886	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.97256	-3.88;-3.9;-4.31;-3.88;-3.95;-3.85;-3.86;-3.91;-3.84;-3.89;-3.95;-4.31	4.45	2.65	0.31530	.	0.437084	0.22193	N	0.063346	D	0.96147	0.8744	L	0.29908	0.895	0.31860	N	0.621095	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.986;1.0;1.0;0.992;0.996;0.986;1.0;0.986;1.0	D;D;D;P;D;D;D;D;P;D;P;D	0.87578	0.996;0.989;0.997;0.905;0.998;0.998;0.921;0.99;0.905;0.998;0.905;0.998	D	0.93881	0.7171	10	0.62326	D	0.03	-0.5633	6.2534	0.20859	0.0997:0.187:0.7133:0.0	.	421;528;454;477;477;454;428;421;477;421;502;421	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	K	477;428;421;477;421;454;454;528;477;477;502;421;421	ENSP00000372407:T477K;ENSP00000269469:T428K;ENSP00000342531:T421K;ENSP00000269468:T477K;ENSP00000285102:T421K;ENSP00000409561:T454K;ENSP00000269471:T454K;ENSP00000408846:T528K;ENSP00000339546:T477K;ENSP00000405268:T502K;ENSP00000381506:T421K;ENSP00000381502:T421K	ENSP00000269468:T477K	T	-	2	0	MBD1	46053948	1.000000	0.71417	0.980000	0.43619	0.853000	0.48598	0.954000	0.29175	0.805000	0.34159	0.561000	0.74099	ACA	.	.	none		0.637	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47799950	G	T	47799950	3	4	11	1	0	0	0	0	1	0	0	0	9342	1377	48	4	601	4	MBD1	18	47799950	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	14516347	47799950	30277298	413	2698										
DCC	1630	hgsc.bcm.edu	37	chr18	50432601	50432601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctggagcattgcagatcagCcgactccaaccgggggacat	12	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:50432601C>T	ENST00000442544.2	+	3	1216	c.600C>T	c.(598-600)agC>agT	p.S200S	DCC_ENST00000412726.1_Silent_p.S48S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	200	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGATCAGCCGACTCCAAC	0.512																																					p.S200S		Atlas-SNP	.											DCC,NS,carcinoma,+1,1	DCC	360	1	0			c.C600T						PASS	.						81	75	77					18																	50432601		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon3			GATCAGCCGACTC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.600C>T	18.37:g.50432601C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	203	34	0.167488	NM_005215		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																			.	.	none		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50432601	C	T	50432601	2	4	11	1	0	0	0	0	0	0	0	1	4282	738	26	2		2	DCC	18	50432601	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2632651	50432601	27644647	414	2699										
NEDD4L	23327	hgsc.bcm.edu	37	chr18	56057939	56057939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcagtttgtcacagggacatCgcgagtacctatgaatggat	12	8	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:56057939C>T	ENST00000400345.3	+	29	3000	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	NEDD4L_ENST00000586263.1_Missense_Mutation_p.S878L|NEDD4L_ENST00000382850.4_Missense_Mutation_p.S886L|NEDD4L_ENST00000256830.9_Missense_Mutation_p.S802L|NEDD4L_ENST00000589054.1_Missense_Mutation_p.S37L|NEDD4L_ENST00000435432.2_Missense_Mutation_p.S765L|NEDD4L_ENST00000456986.1_Missense_Mutation_p.S785L|NEDD4L_ENST00000431212.2_Missense_Mutation_p.S785L|NEDD4L_ENST00000456173.2_Missense_Mutation_p.S765L|NEDD4L_ENST00000356462.6_Missense_Mutation_p.S842L|NEDD4L_ENST00000256832.7_Missense_Mutation_p.S766L|NEDD4L_ENST00000357895.5_Missense_Mutation_p.S898L	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	906	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACAGGGACATCGCGAGTACCT	0.507																																					p.S906L		Atlas-SNP	.											.	NEDD4L	126	.	0			c.C2717T						PASS	.						116	111	113					18																	56057939		2036	4184	6220	SO:0001583	missense	23327	exon29			GGACATCGCGAGT	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2717C>T	18.37:g.56057939C>T	ENSP00000383199:p.Ser906Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	211	44	0.208531	NM_001144967	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	36	5.713196	0.96830	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.66	5.66	0.87406	HECT (4);	0.106741	0.64402	D	0.000003	D	0.87103	0.6094	H	0.99211	4.47	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.931;0.978;1.0;1.0	D;D;B;B;D;D	0.75020	0.974;0.974;0.279;0.305;0.977;0.985	D	0.92318	0.5863	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	878;898;765;842;906;886	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	L	906;886;842;802;766;785;898;765;765;785	ENSP00000383199:S906L;ENSP00000372301:S886L;ENSP00000348847:S842L;ENSP00000256830:S802L;ENSP00000256832:S766L;ENSP00000411947:S785L;ENSP00000350569:S898L;ENSP00000393395:S765L;ENSP00000405440:S765L;ENSP00000389406:S785L	ENSP00000256830:S802L	S	+	2	0	NEDD4L	54208919	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	7.773000	0.85462	2.656000	0.90262	0.655000	0.94253	TCG	.	.	none		0.507	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			T	56057939	C	T	56057939	3	4	11	1	0	0	0	0	1	0	0	0	10311	893	31	1	2859	1	NEDD4L	18	56057939	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5625338	56057939	22019309	415	2700										
CDH20	28316	hgsc.bcm.edu	37	chr18	59166652	59166652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaaattcaagacatcaatgaCaatgagcccaagttcctgga	7	9	2	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:59166652C>A	ENST00000262717.4	+	3	878	c.480C>A	c.(478-480)gaC>gaA	p.D160E	CDH20_ENST00000538374.1_Missense_Mutation_p.D160E|CDH20_ENST00000536675.2_Missense_Mutation_p.D160E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	160	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACATCAATGACAATGAGCCCA	0.522																																					p.D160E		Atlas-SNP	.											.	CDH20	117	.	0			c.C480A						PASS	.						73	74	73					18																	59166652		2203	4300	6503	SO:0001583	missense	28316	exon2			CAATGACAATGAG	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.480C>A	18.37:g.59166652C>A	ENSP00000262717:p.Asp160Glu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	211	23	0.109005	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141010	0.77775	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.74526	-0.85;-0.85;-0.85	6.06	2.93	0.34026	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.094194	0.64402	D	0.000001	D	0.91314	0.7261	H	0.99261	4.49	0.51233	D	0.999916	D	0.65815	0.995	D	0.81914	0.995	D	0.93533	0.6871	10	0.87932	D	0	.	12.9137	0.58195	0.0:0.7957:0.0:0.2043	.	160	Q9HBT6	CAD20_HUMAN	E	160	ENSP00000444767:D160E;ENSP00000442226:D160E;ENSP00000262717:D160E	ENSP00000262717:D160E	D	+	3	2	CDH20	57317632	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.309000	0.51903	0.903000	0.36546	-0.145000	0.13849	GAC	.	.	none		0.522	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		A	59166652	C	A	59166652	3	1	11	1	0	0	0	0	1	0	0	0	3106	477	17	4	486	4	CDH20	18	59166652	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3108713	59166652	18910596	416	2701										
SERPINB2	5055	hgsc.bcm.edu	37	chr18	61562516	61562516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aggtgcttcagtttaatgaaGtgggagccaatgcagttacc	12	7	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:61562516G>T	ENST00000299502.4	+	3	267	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.V63L	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	63					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GTTTAATGAAGTGGGAGCCAA	0.453																																					p.V63L		Atlas-SNP	.											.	SERPINB2	63	.	0			c.G187T						PASS	.						149	150	150					18																	61562516		2203	4300	6503	SO:0001583	missense	5055	exon3			AATGAAGTGGGAG	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.187G>T	18.37:g.61562516G>T	ENSP00000299502:p.Val63Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	182	35	0.192308	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.778022	0.31502	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;T;T;D;T	0.82711	-1.64;2.83;2.83;-1.55;-1.17	5.93	0.531	0.17108	Serpin domain (3);	4.311900	0.00508	N	0.000179	T	0.75925	0.3916	L	0.33668	1.02	0.09310	N	1	B	0.21520	0.057	B	0.21360	0.034	T	0.56727	-0.7931	10	0.25751	T	0.34	.	8.6478	0.34016	0.4471:0.0:0.5529:0.0	.	63	P05120	PAI2_HUMAN	L	63	ENSP00000385397:V63L;ENSP00000299502:V63L;ENSP00000401645:V63L;ENSP00000402386:V63L;ENSP00000397096:V63L	ENSP00000299502:V63L	V	+	1	0	SERPINB2	59713496	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-0.105000	0.10907	0.019000	0.15079	0.655000	0.94253	GTG	.	.	none		0.453	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		T	61562516	G	T	61562516	3	4	11	1	0	0	0	0	1	0	0	0	14101	1029	36	4	193	4	SERPINB2	18	61562516	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2395864	61562516	16514732	417	2702										
SERPINB10	5273	hgsc.bcm.edu	37	chr18	61584747	61584747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accctgaaagtgaaaaaaaaAggaaaatggtatatcttatc	7	5	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:61584747A>G	ENST00000238508.3	+	3	285	c.226A>G	c.(226-228)Agg>Ggg	p.R76G		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	76					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGAAAAAAAAAGGAAAATGGT	0.299																																					p.R76G		Atlas-SNP	.											SERPINB10,colon,carcinoma,0,1	SERPINB10	53	1	0			c.A226G						scavenged	.						23	23	23					18																	61584747		2168	4251	6419	SO:0001583	missense	5273	exon2			AAAAAAAGGAAAA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.226A>G	18.37:g.61584747A>G	ENSP00000238508:p.Arg76Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786427	0.31593	.	.	ENSG00000242550	ENST00000238508	D	0.85088	-1.94	5.51	5.51	0.81932	Serpin domain (3);	0.157487	0.42821	D	0.000652	D	0.82747	0.5104	N	0.26042	0.785	0.31412	N	0.675345	D;D	0.58970	0.984;0.973	P;P	0.54210	0.745;0.745	T	0.82448	-0.0452	9	.	.	.	.	11.9508	0.52954	1.0:0.0:0.0:0.0	.	76;76	P48595;B2RC45	SPB10_HUMAN;.	G	76	ENSP00000238508:R76G	.	R	+	1	2	SERPINB10	59735727	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	3.903000	0.56318	2.319000	0.78375	0.528000	0.53228	AGG	.	.	none		0.299	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		G	61584747	A	G	61584747	3	3	11	1	0	0	0	0	1	0	0	0	14097	63	3	3	232	3	SERPINB10	18	61584747	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	22231	61584747	16492501	418	2703										
DSEL	92126	hgsc.bcm.edu	37	chr18	65180354	65180354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcaaacaccaatacattgtTaaggtggctcaacttgggtc	9	9	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:65180354T>G	ENST00000310045.7	-	2	2995	c.1522A>C	c.(1522-1524)Aac>Cac	p.N508H	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	498					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATACATTGTTAAGGTGGCTC	0.483																																					p.N508H		Atlas-SNP	.											.	DSEL	196	.	0			c.A1522C						PASS	.						92	83	86					18																	65180354		2203	4300	6503	SO:0001583	missense	92126	exon2			CATTGTTAAGGTG	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1522A>C	18.37:g.65180354T>G	ENSP00000310565:p.Asn508His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	206	29	0.140777	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425856	0.62733	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.29917	1.55	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.57519	0.2059	M	0.80746	2.51	0.53688	D	0.999975	D	0.89917	1.0	D	0.87578	0.998	T	0.59064	-0.7524	10	0.38643	T	0.18	-16.4224	15.2042	0.73165	0.0:0.0:0.0:1.0	.	498	Q8IZU8	DSEL_HUMAN	H	508;498	ENSP00000310565:N508H	ENSP00000310565:N508H	N	-	1	0	DSEL	63331334	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	7.849000	0.86908	2.083000	0.62718	0.460000	0.39030	AAC	.	.	none		0.483	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		G	65180354	T	G	65180354	3	3	11	1	0	0	0	0	1	0	0	0	4775	1754	61	5	2150	5	DSEL	18	65180354	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	3595607	65180354	12896894	419	2704										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66721311	66721311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgtaagctccagaggtctctGgatgaagagaaagaaagaaa	12	6	1	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:66721311G>A	ENST00000360242.5	+	8	1596	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	CCDC102B_ENST00000319445.6_Silent_p.L493L	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGGTCTCTGGATGAAGAGA	0.373																																					p.L493L		Atlas-SNP	.											CCDC102B,NS,carcinoma,0,1	CCDC102B	92	1	0			c.G1479A						PASS	.						81	79	80					18																	66721311		2203	4300	6503	SO:0001819	synonymous_variant	79839	exon10			GTCTCTGGATGAA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1479G>A	18.37:g.66721311G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	39	15	0.384615	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	CCDS11996.2																																																																																			.	.	none		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		A	66721311	G	A	66721311	2	1	11	1	0	0	0	0	0	0	0	1	2737	1335	47	2		2	CCDC102B	18	66721311	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1540957	66721311	11355937	420	2705										
FBXO15	201456	hgsc.bcm.edu	37	chr18	71749236	71749236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aagaggtaggtgttctctgtTattttttaaatgtataacaa	8	3	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:71749236T>A	ENST00000419743.2	-	9	1268	c.1189A>T	c.(1189-1191)Aac>Tac	p.N397Y	FBXO15_ENST00000269500.5_Missense_Mutation_p.N321Y|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTTCTCTGTTATTTTTTAAA	0.333																																					p.N397Y		Atlas-SNP	.											.	FBXO15	97	.	0			c.A1189T						PASS	.						103	97	99					18																	71749236		2203	4300	6503	SO:0001583	missense	201456	exon9			CTCTGTTATTTTT	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1189A>T	18.37:g.71749236T>A	ENSP00000393154:p.Asn397Tyr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	187	30	0.160428	NM_001142958	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	T	8.465	0.856251	0.17106	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.47528	0.84;0.84	4.93	2.54	0.30619	.	0.737265	0.13656	N	0.371884	T	0.48995	0.1531	M	0.68317	2.08	0.09310	N	1	D;P	0.54397	0.966;0.883	P;P	0.48030	0.564;0.467	T	0.41680	-0.9495	10	0.72032	D	0.01	-25.5126	5.933	0.19150	0.0:0.1488:0.1391:0.7121	.	397;321	B3KST3;Q8NCQ5	.;FBX15_HUMAN	Y	321;397	ENSP00000269500:N321Y;ENSP00000393154:N397Y	ENSP00000269500:N321Y	N	-	1	0	FBXO15	69900216	0.987000	0.35691	0.111000	0.21465	0.029000	0.11900	1.114000	0.31196	0.329000	0.23460	-0.256000	0.11100	AAC	.	.	none		0.333	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		A	71749236	T	A	71749236	3	1	11	1	0	0	0	0	1	0	0	0	5728	1754	61	5	351	5	FBXO15	18	71749236	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	5027925	71749236	6328012	421	2706										
CNDP2	55748	hgsc.bcm.edu	37	chr18	72167213	72167213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggggtctggttgaaagatggCggccctcactaccctgttta	13	10	2	2	rs140583961		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:72167213C>T	ENST00000324262.4	+	2	321	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CNDP2_ENST00000324301.8_Missense_Mutation_p.A2V|CNDP2_ENST00000579847.1_Missense_Mutation_p.A2V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	2					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.A2V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGAAAGATGGCGGCCCTCACT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17676	0.0		0.0	False		,,,				2504	0.0				p.A2V		Atlas-SNP	.											CNDP2,NS,carcinoma,0,1	CNDP2	55	1	1	Substitution - Missense(1)	lung(1)	c.C5T						scavenged	.	C	VAL/ALA,VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	104	91	96		5,5	4.6	0.5	18	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense	CNDP2	NM_001168499.1,NM_018235.2	64,64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign	2/392,2/476	72167213	4,13002	2203	4300	6503	SO:0001583	missense	55748	exon1			AGATGGCGGCCCT	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.5C>T	18.37:g.72167213C>T	ENSP00000325548:p.Ala2Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	215	3	0.0139535	NM_001168499	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152475	0.21371	9.08E-4	0.0	ENSG00000133313	ENST00000324262;ENST00000324301	T	0.18960	2.18	5.43	4.56	0.56223	.	0.332021	0.31772	N	0.007090	T	0.13200	0.0320	N	0.14661	0.345	0.21416	N	0.999694	P;B;P	0.35411	0.5;0.324;0.5	B;B;B	0.28232	0.087;0.035;0.087	T	0.10474	-1.0628	10	0.62326	D	0.03	0.7047	15.9342	0.79688	0.0:0.8645:0.1355:0.0	.	2;2;2	B4DV28;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	V	2	ENSP00000325548:A2V	ENSP00000325548:A2V	A	+	2	0	CNDP2	70318193	0.997000	0.39634	0.533000	0.28001	0.012000	0.07955	4.525000	0.60559	1.280000	0.44463	-0.304000	0.09214	GCG	C|1.000;T|0.000	0.000	weak		0.458	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		T	72167213	C	T	72167213	3	4	11	1	0	0	0	0	1	0	0	0	3594	768	27	1	7	1	CNDP2	18	72167213	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	417977	72167213	5910035	422	2707										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72343485	72343485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agagaatctcctttccccccGaaagaaattagtgttagttg	8	9	1	2	rs368077796		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:72343485G>A	ENST00000299687.5	+	1	510	c.510G>A	c.(508-510)ccG>ccA	p.P170P	ZNF407_ENST00000582337.1_Silent_p.P170P|ZNF407_ENST00000577538.1_Silent_p.P170P|ZNF407_ENST00000309902.6_Silent_p.P170P	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTTTCCCCCCGAAAGAAATTA	0.393																																					p.P170P		Atlas-SNP	.											ZNF407_ENST00000582337,NS,carcinoma,0,2	ZNF407	231	2	0			c.G510A						scavenged	.	G	,,	0,3722		0,0,1861	86	86	86		510,510,510	2.3	0	18		86	2,8210		0,2,4104	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	0,2,5965	AA,AG,GG		0.0244,0.0,0.0168	,,	170/1816,170/1661,170/2249	72343485	2,11932	1861	4106	5967	SO:0001819	synonymous_variant	55628	exon1			CCCCCCGAAAGAA	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.510G>A	18.37:g.72343485G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	117	2	0.017094	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			.	.	weak		0.393	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72343485	G	A	72343485	2	1	11	1	0	0	0	0	0	0	0	1	17884	1045	37	1		1	ZNF407	18	72343485	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	176272	72343485	5733763	423	2708										
SALL3	27164	hgsc.bcm.edu	37	chr18	76755256	76755256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgggcgtccaggtccccgccGggcctcagacagtgatgggc	16	15	1	2	rs200983101	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr18:76755256G>A	ENST00000537592.2	+	2	3265	c.3265G>A	c.(3265-3267)Ggg>Agg	p.G1089R	SALL3_ENST00000575389.2_Missense_Mutation_p.G1017R|SALL3_ENST00000536229.3_Missense_Mutation_p.G884R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1089					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGTCCCCGCCGGGCCTCAGAC	0.716													G|||	16	0.00319489	0.0	0.0	5008	,	,		11981	0.0149		0.0	False		,,,				2504	0.001				p.G1089R		Atlas-SNP	.											.	SALL3	162	.	0			c.G3265A						PASS	.						9	12	11					18																	76755256		2171	4226	6397	SO:0001583	missense	27164	exon2			CCCGCCGGGCCTC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3265G>A	18.37:g.76755256G>A	ENSP00000441823:p.Gly1089Arg	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	G	15.42	2.829352	0.50845	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.67171	2.81;-0.25	5.23	4.34	0.51931	.	0.104089	0.40064	N	0.001187	T	0.36193	0.0958	N	0.19112	0.55	0.33084	D	0.53701	B;D	0.60575	0.044;0.988	B;P	0.45506	0.02;0.483	T	0.54463	-0.8290	10	0.12430	T	0.62	-33.686	14.6441	0.68748	0.0:0.0:0.8532:0.1468	.	749;1089	F5GXY4;Q9BXA9	.;SALL3_HUMAN	R	1089;1017;749	ENSP00000441823:G1089R;ENSP00000439975:G1017R	ENSP00000299466:G1089R	G	+	1	0	SALL3	74856244	1.000000	0.71417	0.433000	0.26760	0.042000	0.13812	6.028000	0.70889	1.154000	0.42482	0.655000	0.94253	GGG	G|0.996;A|0.004	0.004	strong		0.716	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76755256	G	A	76755256	3	1	11	1	0	0	0	0	1	0	0	0	13812	1116	39	1	3271	1	SALL3	18	76755256	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	4411771	76755256	1321992	424	2709										
MED16	10025	hgsc.bcm.edu	37	chr19	879943	879943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccccagcagctcaccttcccGtggctgtcaatccccaccag	7	20	2	0	rs201392672|rs76403059	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000395808.3_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.H449Q			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					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)		TCACCTTCCCGTGGCTGTCAA	0.672																																					p.H449Q		Atlas-SNP	.											MED16,colon,carcinoma,0,1	MED16	61	1	0			c.C1347G						scavenged	.						13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025	exon8			CTTCCCGTGGCTG	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.1347C>G	19.37:g.879943G>C	ENSP00000464810:p.His449Gln	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC	.	.	weak		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	879943	G	C	879943	3	2	11	1	0	0	0	0	1	0	0	0	9434	1136	40	4	1322	4	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10		879943	58249040	425	2710										
MYO1F	4542	hgsc.bcm.edu	37	chr19	8601222	8601222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cgcccgaagcaggtgctggaCgccctggcgttcgtccccac	13	17	0	0	rs199663368		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:8601222C>T	ENST00000338257.8	-	19	2224	c.1957G>A	c.(1957-1959)Gtc>Atc	p.V653I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	653	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGTGCTGGACGCCCTGGCGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12969	0.001		0.0	False		,,,				2504	0.0				p.V653I		Atlas-SNP	.											.	MYO1F	128	.	0			c.G1957A						PASS	.						60	62	62					19																	8601222		2039	4212	6251	SO:0001583	missense	4542	exon19			GCTGGACGCCCTG	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1957G>A	19.37:g.8601222C>T	ENSP00000344871:p.Val653Ile	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	24	11	0.458333	NM_012335	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.83	2.353346	0.41700	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87491	-2.26	4.51	3.44	0.39384	Myosin head, motor domain (2);	0.154695	0.42420	N	0.000713	T	0.79907	0.4527	L	0.35593	1.075	0.51012	D	0.9999	B	0.27823	0.19	B	0.26864	0.074	T	0.74850	-0.3524	10	0.39692	T	0.17	.	11.8667	0.52496	0.0:0.9123:0.0:0.0877	.	653	O00160	MYO1F_HUMAN	I	698;653	ENSP00000344871:V653I	ENSP00000304899:V698I	V	-	1	0	MYO1F	8507222	0.999000	0.42202	0.873000	0.34254	0.921000	0.55340	4.018000	0.57174	0.876000	0.35872	0.454000	0.30748	GTC	C|1.000;T|0.000	0.000	strong		0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8601222	C	T	8601222	3	4	11	1	0	0	0	0	1	0	0	0	10073	536	19	1	1379	1	MYO1F	19	8601222	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7721279	8601222	50527761	426	2711										
SLC44A2	57153	hgsc.bcm.edu	37	chr19	10748564	10748564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcaccaatttctgcacctcGgccaggaatgccttcttcct	8	15	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:10748564G>A	ENST00000335757.5	+	18	2104	c.1728G>A	c.(1726-1728)tcG>tcA	p.S576S	SLC44A2_ENST00000586078.1_Silent_p.S576S|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.S574S			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	576					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTGCACCTCGGCCAGGAATG	0.577																																					p.S576S		Atlas-SNP	.											.	SLC44A2	56	.	0			c.G1728A						PASS	.						152	139	144					19																	10748564		2203	4300	6503	SO:0001819	synonymous_variant	57153	exon18			CACCTCGGCCAGG	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1728G>A	19.37:g.10748564G>A		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	237	114	0.481013	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	CCDS12245.1																																																																																			.	.	none		0.577	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			A	10748564	G	A	10748564	2	1	11	1	0	0	0	0	0	0	0	1	14636	1103	39	1		1	SLC44A2	19	10748564	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	2147342	10748564	48380419	427	2712										
RGL3	57139	hgsc.bcm.edu	37	chr19	11510960	11510960	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agctggtggctcaatgacccGggagagccggtagctgaggg	18	9	1	3	rs201767762		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:11510960G>T	ENST00000380456.3	-	14	1561	c.1498C>A	c.(1498-1500)Cgg>Agg	p.R500R	RGL3_ENST00000393423.3_Silent_p.R500R|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	500	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCAATGACCCGGGAGAGCCGG	0.607																																					p.R500R	GBM(174;751 2067 17998 27979 33959)	Atlas-SNP	.											RGL3_ENST00000380456,colon,carcinoma,0,2	RGL3	100	2	0			c.C1498A						scavenged	.						67	64	65					19																	11510960		2203	4300	6503	SO:0001819	synonymous_variant	57139	exon14			TGACCCGGGAGAG	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1498C>A	19.37:g.11510960G>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	145	2	0.0137931	NM_001035223	B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	CCDS32910.1																																																																																			.	.	alt		0.607	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		T	11510960	G	T	11510960	2	4	11	1	0	0	0	0	0	0	0	1	13278	1115	39	4		4	RGL3	19	11510960	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	762396	11510960	47618023	428	2713										
ZNF443	10224	hgsc.bcm.edu	37	chr19	12542646	12542646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acaattaagggatgaatgacCcatgactttttctcctctca	6	10	2	3	rs199587788		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:12542646C>T	ENST00000301547.5	-	4	537	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	114					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GATGAATGACCCATGACTTTT	0.433																																					p.G114S		Atlas-SNP	.											ZNF443,caecum,carcinoma,0,1	ZNF443	63	1	0			c.G340A						PASS	.						137	117	124					19																	12542646		2203	4300	6503	SO:0001583	missense	10224	exon4			AATGACCCATGAC	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.340G>A	19.37:g.12542646C>T	ENSP00000301547:p.Gly114Ser	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	200	90	0.45	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	6.531	0.466301	0.12402	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.06849	3.25	1.37	-2.74	0.05932	.	.	.	.	.	T	0.09862	0.0242	L	0.28400	0.85	0.09310	N	1	D	0.62365	0.991	P	0.60949	0.881	T	0.19943	-1.0290	9	0.16896	T	0.51	.	4.7986	0.13284	0.0:0.3592:0.3668:0.274	.	114	Q9Y2A4	ZN443_HUMAN	S	114	ENSP00000301547:G114S	ENSP00000301547:G114S	G	-	1	0	ZNF443	12403646	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-1.109000	0.03309	-0.783000	0.04534	-0.384000	0.06662	GGT	.	.	alt		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		T	12542646	C	T	12542646	3	4	11	1	0	0	0	0	1	0	0	0	17913	623	22	2	1679	2	ZNF443	19	12542646	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1031686	12542646	46586337	429	2714										
IER2	9592	hgsc.bcm.edu	37	chr19	13264330	13264330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gccgaggagacctccgcctgCtgtgccccgcgccccgccaa	12	20	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:13264330C>T	ENST00000588173.1	+	1	1542	c.330C>T	c.(328-330)tgC>tgT	p.C110C	CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000292433.3_Silent_p.C110C|IER2_ENST00000587885.1_Silent_p.C110C|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	110						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCCGCCTGCTGTGCCCCGC	0.706											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C110C		Atlas-SNP	.											.	IER2	14	.	0			c.C330T						PASS	.						8	9	9					19																	13264330		2152	4205	6357	SO:0001819	synonymous_variant	9592	exon2			CGCCTGCTGTGCC	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.330C>T	19.37:g.13264330C>T		Somatic	17	0	0	686	WXS	Illumina HiSeq	Phase_I	12	7	0.583333	NM_004907	Q03827|Q2TAZ2	Silent	SNP	ENST00000588173.1	37	CCDS12295.1																																																																																			.	.	none		0.706	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1	NM_004907		T	13264330	C	T	13264330	2	4	11	1	0	0	0	0	0	0	0	1	7505	805	28	2		2	IER2	19	13264330	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	721684	13264330	45864653	430	2715										
ZSWIM4	65249	hgsc.bcm.edu	37	chr19	13915887	13915887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acctcatcagcgcccatcacActgaggtgctgcccactgct	8	17	3	1	rs199644245		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:13915887A>C	ENST00000254323.2	+	3	826	c.637A>C	c.(637-639)Act>Cct	p.T213P	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	213							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGCCCATCACACTGAGGTGCT	0.627											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	a|||	1	0.000199681	0.0	0.0014	5008	,	,		19520	0.0		0.0	False		,,,				2504	0.0				p.T213P		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.A637C						PASS	.						47	41	43					19																	13915887		2203	4300	6503	SO:0001583	missense	65249	exon3			CATCACACTGAGG	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.637A>C	19.37:g.13915887A>C	ENSP00000254323:p.Thr213Pro	Somatic	24	0	0	691	WXS	Illumina HiSeq	Phase_I	39	16	0.410256	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	18.12	3.552511	0.65425	.	.	ENSG00000132003	ENST00000254323	T	0.43294	0.95	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000015	T	0.64103	0.2568	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.65475	-0.6159	10	0.34782	T	0.22	-10.3035	11.9253	0.52817	1.0:0.0:0.0:0.0	.	213	Q9H7M6	ZSWM4_HUMAN	P	213	ENSP00000254323:T213P	ENSP00000254323:T213P	T	+	1	0	ZSWIM4	13776887	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	8.974000	0.93433	1.714000	0.51371	0.459000	0.35465	ACT	A|1.000;C|0.000	0.000	strong		0.627	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		C	13915887	A	C	13915887	3	2	11	1	0	0	0	0	1	0	0	0	18240	159	6	5	647	5	ZSWIM4	19	13915887	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	651557	13915887	45213096	431	2716										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17039035	17039035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctcattggatggctctggacCatggccaacctggaaaaaga	11	10	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:17039035C>T	ENST00000443236.1	-	25	3326	c.3295G>A	c.(3295-3297)Ggt>Agt	p.G1099S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1052						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCTCTGGACCATGGCCAACC	0.597																																					p.G1099S		Atlas-SNP	.											.	CPAMD8	192	.	0			c.G3295A						PASS	.						28	31	30					19																	17039035		2007	4168	6175	SO:0001583	missense	27151	exon25			CTGGACCATGGCC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3295G>A	19.37:g.17039035C>T	ENSP00000402505:p.Gly1099Ser	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	62	27	0.435484	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.195939|3.195939	0.58126|0.58126	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.13|3.13	3.13|3.13	0.36017|0.36017	Farnesoic acid O-methyl transferase (1);|.	0.205858|.	0.29631|.	U|.	0.011619|.	T|T	0.76126|0.76126	0.3944|0.3944	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.79369|0.79369	-0.1832|-0.1832	9|5	0.62326|.	D|.	0.03|.	.|.	14.2237|14.2237	0.65845|0.65845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1052|.	Q8IZJ3|.	CPMD8_HUMAN|.	S|I	1099|1109	.|.	ENSP00000291440:G1099S|.	G|M	-|-	1|3	0|0	CPAMD8|CPAMD8	16900035|16900035	0.999000|0.999000	0.42202|0.42202	0.969000|0.969000	0.41365|0.41365	0.129000|0.129000	0.20672|0.20672	4.687000|4.687000	0.61708|0.61708	1.300000|1.300000	0.44818|0.44818	0.655000|0.655000	0.94253|0.94253	GGT|ATG	.	.	none		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17039035	C	T	17039035	3	4	11	1	0	0	0	0	1	0	0	0	3795	594	21	2	2575	2	CPAMD8	19	17039035	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	3123148	17039035	42089948	432	2717										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccacagctgctgctgctgctActgctgctgctgctgctgcc	11	16	0	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																					p.S154S		Atlas-SNP	.											TSHZ3_ENST00000240587,bladder,carcinoma,0,1	TSHZ3	549	1	0			c.T462C						scavenged	.						39	44	42					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616	exon2			GCTGCTACTGCTG	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G		Somatic	300	2	0.00666667		WXS	Illumina HiSeq	Phase_I	254	4	0.015748	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			.	.	none		0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31770237	A	G	31770237	2	3	11	1	0	0	0	0	0	0	0	1	16622	388	14	2		2	TSHZ3	19	31770237	Silent	SNP	A	TCGA-FF-8042-01A-11D-2210-10	14731202	31770237	27358746	433	2718										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002369	36002369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	accactgttgccactgctgcCaccactgctgccgccactgc	8	19	0	0	rs56743379		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:36002369C>T	ENST00000339686.3	-	5	1038	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G288S|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G288S|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.G288S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G288S|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G288S|DMKN_ENST00000414866.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	288	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ccactgctgccaccactgctg	0.632																																					p.G288S		Atlas-SNP	.											DMKN_ENST00000424570,NS,carcinoma,0,3	DMKN	116	3	1	Deletion - In frame(1)	ovary(1)	c.G862A						scavenged	.						29	23	25					19																	36002369		2194	4290	6484	SO:0001583	missense	93099	exon5			TGCTGCCACCACT	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.862G>A	19.37:g.36002369C>T	ENSP00000342012:p.Gly288Ser	Somatic	55	2	0.0363636		WXS	Illumina HiSeq	Phase_I	55	5	0.0909091	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030758	0.02045	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	2.68	-4.69	0.03299	.	1.453220	0.04292	N	0.345661	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17465	0.0;0.0;0.0;0.0;0.022	B;B;B;B;B	0.15484	0.001;0.001;0.001;0.001;0.013	T	0.24799	-1.0150	10	0.09590	T	0.72	-0.9644	8.7065	0.34358	0.0:0.4947:0.0:0.5053	.	288;288;288;288;288	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	288	ENSP00000342012:G288S;ENSP00000394908:G288S;ENSP00000415277:G288S;ENSP00000414743:G288S;ENSP00000388404:G288S;ENSP00000409513:G288S	ENSP00000342012:G288S	G	-	1	0	DMKN	40694209	.	.	0.000000	0.03702	0.022000	0.10575	.	.	-1.118000	0.02961	-0.959000	0.02639	GGC	.	.	none		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002369	C	T	36002369	3	4	11	1	0	0	0	0	1	0	0	0	4582	594	21	2	933	2	DMKN	19	36002369	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4232132	36002369	23126614	434	2719										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002404	36002404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactgctgccgccactgctgCtgccactgctgctgccacca	9	19	0	0	rs56743379|rs138902616		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:36002404C>T	ENST00000339686.3	-	5	1003	c.827G>A	c.(826-828)aGc>aAc	p.S276N	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S276N|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S276N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.S276N|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S276N|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S276N|DMKN_ENST00000414866.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	276	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gccactgctgctgccactgct	0.647																																					p.S276N		Atlas-SNP	.											DMKN,NS,carcinoma,0,2	DMKN	116	2	1	Deletion - In frame(1)	ovary(1)	c.G827A						scavenged	.						28	21	23					19																	36002404		2176	4255	6431	SO:0001583	missense	93099	exon5			CTGCTGCTGCCAC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.827G>A	19.37:g.36002404C>T	ENSP00000342012:p.Ser276Asn	Somatic	52	1	0.0192308		WXS	Illumina HiSeq	Phase_I	45	9	0.2	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635437	0.14322	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	3.2	-1.74	0.08056	.	0.904855	0.09337	N	0.815985	T	0.30696	0.0773	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003	T	0.32241	-0.9914	10	0.16896	T	0.51	5.0393	8.4003	0.32581	0.0:0.7659:0.0:0.2341	.	276;276;276;276;276	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	276	ENSP00000342012:S276N;ENSP00000394908:S276N;ENSP00000415277:S276N;ENSP00000414743:S276N;ENSP00000388404:S276N;ENSP00000409513:S276N	ENSP00000342012:S276N	S	-	2	0	DMKN	40694244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.213000	0.09305	-0.013000	0.14199	-1.984000	0.00453	AGC	.	.	weak		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002404	C	T	36002404	3	4	11	1	0	0	0	0	1	0	0	0	4582	797	28	2	968	2	DMKN	19	36002404	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	35	36002404	23126579	435	2720										
UPK1A	11045	hgsc.bcm.edu	37	chr19	36157719	36157719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	catgtgtcccaggatgatggCgtctgcggcagcagcggagg	17	10	1	1	rs367904056		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:36157719C>T	ENST00000222275.2	+	1	5	c.5C>T	c.(4-6)gCg>gTg	p.A2V	UPK1A_ENST00000379013.2_Missense_Mutation_p.A2V|RN7SL765P_ENST00000580260.1_RNA|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	2					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGATGATGGCGTCTGCGGCA	0.617																																					p.A2V		Atlas-SNP	.											UPK1A,colon,carcinoma,-1,1	UPK1A	23	1	0			c.C5T						scavenged	.	C	VAL/ALA	0,4406		0,0,2203	117	109	112		5	2.5	1	19		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	UPK1A	NM_007000.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	2/259	36157719	2,13004	2203	4300	6503	SO:0001583	missense	11045	exon1			TGATGGCGTCTGC	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.5C>T	19.37:g.36157719C>T	ENSP00000222275:p.Ala2Val	Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	142	3	0.0211268	NM_007000	Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630872	0.14322	0.0	2.33E-4	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.08546	3.34;3.08	4.79	2.52	0.30459	.	1.918880	0.02481	N	0.088492	T	0.04003	0.0112	N	0.03608	-0.345	0.25659	N	0.986022	B;P	0.44734	0.003;0.842	B;B	0.33960	0.002;0.173	T	0.20472	-1.0274	10	0.87932	D	0	.	6.252	0.20852	0.0:0.7135:0.1869:0.0996	.	2;2	O00322-2;O00322	.;UPK1A_HUMAN	V	2	ENSP00000222275:A2V;ENSP00000368298:A2V	ENSP00000222275:A2V	A	+	2	0	UPK1A	40849559	0.985000	0.35326	0.989000	0.46669	0.003000	0.03518	1.211000	0.32382	1.381000	0.46364	-0.137000	0.14449	GCG	.	.	weak		0.617	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			T	36157719	C	T	36157719	3	4	11	1	0	0	0	0	1	0	0	0	17004	768	27	1	7	1	UPK1A	19	36157719	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	155315	36157719	22971264	436	2721										
ZNF461	92283	hgsc.bcm.edu	37	chr19	37129817	37129817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggtgtgaatgaagtctaaagGccttaccacatatcatgcat	9	8	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:37129817G>A	ENST00000588268.1	-	6	1657	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.A454V	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	477					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(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCTAAAGGCCTTACCACA	0.388																																					p.A477V		Atlas-SNP	.											.	ZNF461	73	.	0			c.C1430T						PASS	.						62	66	65					19																	37129817		2201	4297	6498	SO:0001583	missense	92283	exon6			CTAAAGGCCTTAC	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1430C>T	19.37:g.37129817G>A	ENSP00000467931:p.Ala477Val	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	94	34	0.361702	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776220	0.49786	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.19105	2.17	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	N	0.25031	0.7	0.09310	N	1	P;D;P	0.76494	0.901;0.999;0.901	P;D;P	0.70487	0.707;0.969;0.767	T	0.06041	-1.0849	9	0.72032	D	0.01	.	9.8006	0.40761	0.0:0.358:0.6419:0.0	.	454;399;477	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	V	477;208;454;350;171	ENSP00000353515:A454V	ENSP00000353515:A454V	A	-	2	0	ZNF461	41821657	0.000000	0.05858	1.000000	0.80357	0.919000	0.55068	0.018000	0.13422	1.941000	0.56285	0.491000	0.48974	GCC	.	.	none		0.388	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		A	37129817	G	A	37129817	3	1	11	1	0	0	0	0	1	0	0	0	17922	1203	42	2	265	2	ZNF461	19	37129817	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	972098	37129817	21999166	437	2722										
SUPT5H	6829	hgsc.bcm.edu	37	chr19	39948337	39948337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gttgacgatgagtatgaggaCgaggaccagtgggaggatgg	19	4	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:39948337C>T	ENST00000599117.1	+	5	631	c.264C>T	c.(262-264)gaC>gaT	p.D88D	SUPT5H_ENST00000598725.1_Silent_p.D88D|SUPT5H_ENST00000359191.6_Silent_p.D88D|SUPT5H_ENST00000402194.2_Silent_p.D88D|SUPT5H_ENST00000432763.2_Silent_p.D88D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	88	Glu-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGTATGAGGACGAGGACCAGT	0.537																																					p.D88D		Atlas-SNP	.											.	SUPT5H	119	.	0			c.C264T						PASS	.						242	197	212					19																	39948337		2203	4300	6503	SO:0001819	synonymous_variant	6829	exon4			TGAGGACGAGGAC	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.264C>T	19.37:g.39948337C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	179	72	0.402235	NM_001130825	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																			.	.	none		0.537	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		T	39948337	C	T	39948337	2	4	11	1	0	0	0	0	0	0	0	1	15396	535	19	1		1	SUPT5H	19	39948337	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2818520	39948337	19180646	438	2723										
SPTBN4	57731	hgsc.bcm.edu	37	chr19	41066402	41066402	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agcccccttctcaatggaatGacaacagccaatatctgtgt	7	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:41066402G>A	ENST00000352632.3	+	27	6001				SPTBN4_ENST00000595535.1_Silent_p.*2003*|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392023.1_Silent_p.*679*|SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000392025.1_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAATGGAATGacaacagcca	0.582																																					p.X679X		Atlas-SNP	.											.	SPTBN4	213	.	0			c.G2036A						PASS	.						11	14	13					19																	41066402		2126	4185	6311	SO:0001627	intron_variant	57731	exon10			TGGAATGACAACA	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5915+93G>A	19.37:g.41066402G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	94	40	0.425532	NM_025213	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			.	.	none		0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41066402	G	A	41066402	1	1	11	0	1	0	0	0	0	0	0	0	15120	1285	45	2		2	SPTBN4	19	41066402	Intron	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1118065	41066402	18062581	439	2724										
CYP2A13	1553	hgsc.bcm.edu	37	chr19	41599616	41599616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcttctttgcgggcactgagAccgtgagcaccaccctgcgc	11	15	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:41599616A>G	ENST00000330436.3	+	6	913	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	305					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGGCACTGAGACCGTGAGCAC	0.577																																					p.T305A		Atlas-SNP	.											CYP2A13,mucosal,malignant_melanoma,-1,1	CYP2A13	90	1	0			c.A913G						scavenged	.						115	95	101					19																	41599616		2203	4300	6503	SO:0001583	missense	1553	exon6			ACTGAGACCGTGA	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.913A>G	19.37:g.41599616A>G	ENSP00000332679:p.Thr305Ala	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	189	3	0.015873	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	16.34	3.095389	0.56075	.	.	ENSG00000197838	ENST00000330436	D	0.87571	-2.27	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.92857	0.7728	M	0.89353	3.025	0.35878	D	0.828761	P	0.51933	0.949	P	0.57911	0.829	D	0.96277	0.9203	10	0.87932	D	0	.	13.1064	0.59249	1.0:0.0:0.0:0.0	.	305	Q16696	CP2AD_HUMAN	A	305	ENSP00000332679:T305A	ENSP00000332679:T305A	T	+	1	0	CYP2A13	46291456	1.000000	0.71417	0.679000	0.29978	0.204000	0.24138	8.465000	0.90383	1.945000	0.56424	0.397000	0.26171	ACC	.	.	none		0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		G	41599616	A	G	41599616	3	3	11	1	0	0	0	0	1	0	0	0	4161	275	10	2	935	2	CYP2A13	19	41599616	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	533214	41599616	17529367	440	2725										
SLC17A7	57030	hgsc.bcm.edu	37	chr19	49937049	49937049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atgtacttgcgctcctcctcCgagatgctggggtgcagcgc	13	13	0	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:49937049C>T	ENST00000221485.3	-	7	972	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SLC17A7_ENST00000600601.1_Silent_p.S200S|SLC17A7_ENST00000543531.1_Silent_p.S255S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	267					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCTCCTCCTCCGAGATGCTGG	0.647																																					p.S267S		Atlas-SNP	.											SLC17A7,caecum,carcinoma,-1,1	SLC17A7	57	1	0			c.G801A						scavenged	.						63	54	57					19																	49937049		2203	4300	6503	SO:0001819	synonymous_variant	57030	exon7			CTCCTCCGAGATG	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.801G>A	19.37:g.49937049C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	58	3	0.0517241	NM_020309	B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	CCDS12764.1																																																																																			.	.	none		0.647	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			T	49937049	C	T	49937049	2	4	11	1	0	0	0	0	0	0	0	1	14422	639	23	1		1	SLC17A7	19	49937049	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	8337433	49937049	9191934	441	2726										
MYADM	91663	hgsc.bcm.edu	37	chr19	54377236	54377236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgcatcgcgtgtgtggcttaCgccaccgaagtggcctggac	14	12	0	0	rs376434685		TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652																																					p.Y151Y		Atlas-SNP	.											.	MYADM	39	.	0			c.C453T						PASS	.	C	,,,,	0,4406		0,0,2203	54	55	54		453,453,453,453,453	-5.3	0.1	19		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYADM	NM_001020818.1,NM_001020819.1,NM_001020820.1,NM_001020821.1,NM_138373.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	151/323,151/323,151/323,151/323,151/323	54377236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91663	exon3			GGCTTACGCCACC	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.453C>T	19.37:g.54377236C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	84	36	0.428571	NM_138373	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	CCDS12866.1																																																																																			.	.	weak		0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		T	54377236	C	T	54377236	2	4	11	1	0	0	0	0	0	0	0	1	10006	547	19	1		1	MYADM	19	54377236	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4440187	54377236	4751747	442	2727										
CNOT3	4849	hgsc.bcm.edu	37	chr19	54646891	54646891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cctcaagaaggtgtccgaggGcgtggagcagtttgaagata	15	7	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:54646891G>T	ENST00000406403.1	+	2	1665	c.62G>T	c.(61-63)gGc>gTc	p.G21V	CNOT3_ENST00000221232.5_Missense_Mutation_p.G21V|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	21					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGTCCGAGGGCGTGGAGCAG	0.557																																					p.G21V		Atlas-SNP	.											.	CNOT3	133	.	0			c.G62T						PASS	.						171	171	171					19																	54646891		2203	4300	6503	SO:0001583	missense	4849	exon3			CCGAGGGCGTGGA	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.62G>T	19.37:g.54646891G>T	ENSP00000383954:p.Gly21Val	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	65	23	0.353846	NM_014516	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738074	0.89573	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.74632	-0.86;-0.86	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91135	0.4941	10	0.87932	D	0	-25.3415	17.5375	0.87837	0.0:0.0:1.0:0.0	.	21;21	B7Z6J7;O75175	.;CNOT3_HUMAN	V	21	ENSP00000221232:G21V;ENSP00000383954:G21V	ENSP00000221232:G21V	G	+	2	0	CNOT3	59338703	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GGC	.	.	none		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		T	54646891	G	T	54646891	3	4	11	1	0	0	0	0	1	0	0	0	3620	1203	42	4	68	4	CNOT3	19	54646891	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	269655	54646891	4482092	443	2728										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54725980	54725980	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acagggctgggcagggctgaGagggtgggtttgctgtaggc	21	6	0	1	rs150024950	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:54725980G>A	ENST00000391750.1	-	5	514	c.378C>T	c.(376-378)ctC>ctT	p.L126L	LILRA6_ENST00000391735.3_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000245620.9_Silent_p.L126L|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Silent_p.L126L|LILRB3_ENST00000346401.6_Silent_p.L126L|LILRB3_ENST00000424807.1_Silent_p.L126L|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	126	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L126L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGGGCTGAGAGGGTGGGTT	0.582													.|||	570	0.113818	0.0507	0.1037	5008	,	,		13484	0.0486		0.1471	False		,,,				2504	0.2393				p.L126L		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	1	Substitution - coding silent(1)	kidney(1)	c.C378T						scavenged	.						55	36	42					19																	54725980		2117	3871	5988	SO:0001819	synonymous_variant	11025	exon4			GGCTGAGAGGGTG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.378C>T	19.37:g.54725980G>A		Somatic	141	2	0.0141844		WXS	Illumina HiSeq	Phase_I	115	2	0.0173913	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			G|0.947;A|0.053	0.053	strong		0.582	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725980	G	A	54725980	2	1	11	1	0	0	0	0	0	0	0	1	8792	929	33	2		2	LILRB3	19	54725980	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	79089	54725980	4403003	444	2729										
LILRB5	10990	hgsc.bcm.edu	37	chr19	54756239	54756239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agtcactcactgagaatttcCtcctggatgtcagcaactgg	9	11	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:54756239C>T	ENST00000316219.5	-	11	1670	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	LILRB5_ENST00000449561.2_Silent_p.E522E|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Silent_p.E513E|LILRB5_ENST00000345866.6_Silent_p.E422E	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	521					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGAATTTCCTCCTGGATGT	0.617																																					p.E522E		Atlas-SNP	.											LILRB5_ENST00000450632,NS,carcinoma,0,2	LILRB5	176	2	0			c.G1566A						scavenged	.						89	87	87					19																	54756239		2203	4300	6503	SO:0001819	synonymous_variant	10990	exon11			AATTTCCTCCTGG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1563G>A	19.37:g.54756239C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	180	2	0.0111111	NM_001081442	Q8N760	Silent	SNP	ENST00000316219.5	37	CCDS12885.1																																																																																			.	.	none		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54756239	C	T	54756239	2	4	11	1	0	0	0	0	0	0	0	1	8794	680	24	2		2	LILRB5	19	54756239	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	30259	54756239	4372744	445	2730										
ISOC2	79763	hgsc.bcm.edu	37	chr19	55966409	55966409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aagctgcagaatgagcccttCgctggtggagaggaaggcac	15	9	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:55966409C>T	ENST00000425675.2	-	5	544	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ISOC2_ENST00000438389.2_Missense_Mutation_p.E92K|ISOC2_ENST00000085068.3_Missense_Mutation_p.E178K			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	162					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E178K(1)		endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ATGAGCCCTTCGCTGGTGGAG	0.647											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E178K		Atlas-SNP	.											ISOC2,colon,carcinoma,0,4	ISOC2	16	4	1	Substitution - Missense(1)	ovary(1)	c.G532A						scavenged	.						46	44	44					19																	55966409		2203	4300	6503	SO:0001583	missense	79763	exon5			GCCCTTCGCTGGT	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.484G>A	19.37:g.55966409C>T	ENSP00000401726:p.Glu162Lys	Somatic	276	0	0	1011	WXS	Illumina HiSeq	Phase_I	249	3	0.0120482	NM_024710	Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314927	0.81358	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.03	4.03	0.46877	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	H	0.95004	3.61	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.997	D;P;P	0.64237	0.923;0.891;0.778	D	0.89396	0.3692	9	0.87932	D	0	-16.8549	14.0504	0.64732	0.0:1.0:0.0:0.0	.	92;162;178	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	K	178;162;92	.	ENSP00000085068:E178K	E	-	1	0	ISOC2	60658221	1.000000	0.71417	0.350000	0.25708	0.595000	0.36748	6.657000	0.74402	1.981000	0.57761	0.491000	0.48974	GAA	.	.	none		0.647	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		T	55966409	C	T	55966409	3	4	11	1	0	0	0	0	1	0	0	0	7863	893	31	1	141	1	ISOC2	19	55966409	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1210170	55966409	3162574	446	2731										
PEG3	5178	hgsc.bcm.edu	37	chr19	57325440	57325440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttcttctgggtcttcaataCctgcaccatctggctcatca	6	13	7	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:57325440C>T	ENST00000326441.9	-	10	4733	c.4370G>A	c.(4369-4371)gGt>gAt	p.G1457D	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1457D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1333D|PEG3_ENST00000593695.1_Missense_Mutation_p.G1331D|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1457	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1457D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCTTCAATACCTGCACCATC	0.572																																					p.G1457D		Atlas-SNP	.											ZIM2_ENST00000326441,rectum,carcinoma,0,2	PEG3	414	2	2	Substitution - Missense(2)	large_intestine(2)	c.G4370A						scavenged	.						107	97	100					19																	57325440		2203	4300	6503	SO:0001583	missense	5178	exon9			TCAATACCTGCAC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4370G>A	19.37:g.57325440C>T	ENSP00000326581:p.Gly1457Asp	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	284	3	0.0105634	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576445	0.65878	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02345	4.33;4.33	4.25	4.25	0.50352	.	0.000000	0.46145	D	0.000317	T	0.06325	0.0163	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.50693	-0.8798	9	0.12103	T	0.63	-39.6188	12.4664	0.55762	0.0:1.0:0.0:0.0	.	1333;1457;1392	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1457	ENSP00000326581:G1457D;ENSP00000403051:G1457D	ENSP00000326581:G1457D	G	-	2	0	ZIM2	62017252	0.000000	0.05858	0.514000	0.27761	0.779000	0.44077	0.246000	0.18160	2.657000	0.90304	0.650000	0.86243	GGT	.	.	none		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57325440	C	T	57325440	3	4	11	1	0	0	0	0	1	0	0	0	11720	507	18	2	400	2	PEG3	19	57325440	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1359031	57325440	1803543	447	2732										
ZNF587	84914	hgsc.bcm.edu	37	chr19	58371258	58371258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cactggagaaaggccgtatgAatgcagtgaatgtgggaaat	14	5	0	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr19:58371258A>G	ENST00000339656.5	+	3	1660	c.1478A>G	c.(1477-1479)gAa>gGa	p.E493G	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000423137.1_Missense_Mutation_p.E492G|ZNF587_ENST00000419854.1_Missense_Mutation_p.E450G|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	493					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGCCGTATGAATGCAGTGAA	0.428																																					p.E493G	Pancreas(59;641 1233 1885 20055 50741)	Atlas-SNP	.											ZNF587,NS,carcinoma,-1,1	ZNF587	53	1	0			c.A1478G						scavenged	.						144	148	147					19																	58371258		2203	4300	6503	SO:0001583	missense	84914	exon3			CGTATGAATGCAG	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1478A>G	19.37:g.58371258A>G	ENSP00000345479:p.Glu493Gly	Somatic	375	0	0		WXS	Illumina HiSeq	Phase_I	310	4	0.0129032	NM_032828	A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100394	0.37048	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.22743	1.94;1.94;1.94	1.44	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19287	0.0463	L	0.28054	0.825	0.25005	N	0.991448	P;P	0.45594	0.836;0.862	P;P	0.48704	0.532;0.587	T	0.22661	-1.0210	8	0.62326	D	0.03	.	7.7065	0.28653	1.0:0.0:0.0:0.0	.	492;493	G3V0H5;Q96SQ5	.;ZN587_HUMAN	G	450;492;493;493;450	ENSP00000393865:E492G;ENSP00000345479:E493G;ENSP00000406999:E450G	ENSP00000345479:E493G	E	+	2	0	ZNF587	63063070	0.000000	0.05858	0.020000	0.16555	0.325000	0.28411	-0.131000	0.10482	0.624000	0.30286	0.164000	0.16699	GAA	.	.	none		0.428	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		G	58371258	A	G	58371258	3	3	11	1	0	0	0	0	1	0	0	0	18017	246	9	2	1488	2	ZNF587	19	58371258	Missense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1045818	58371258	757725	448	2733										
GPCPD1	56261	hgsc.bcm.edu	37	chr20	5559162	5559162	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tgaactcattgtcgcttattAaggatatctccaagctattg	7	8	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:5559162A>C	ENST00000379019.4	-	8	781	c.569T>G	c.(568-570)tTa>tGa	p.L190*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	190					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTCGCTTATTAAGGATATCTC	0.483																																					p.L190X		Atlas-SNP	.											.	GPCPD1	52	.	0			c.T569G						PASS	.						126	103	111					20																	5559162		2203	4300	6503	SO:0001587	stop_gained	56261	exon8			CTTATTAAGGATA		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.569T>G	20.37:g.5559162A>C	ENSP00000368305:p.Leu190*	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	154	71	0.461039	NM_019593	D3DW06|Q9BQL8|Q9NUX0	Nonsense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	A	38	6.968935	0.97971	.	.	ENSG00000125772	ENST00000379019	.	.	.	5.35	5.35	0.76521	.	0.128536	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-2.9154	15.6389	0.76981	1.0:0.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000368305:L190X	L	-	2	0	GPCPD1	5507162	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.334000	0.79224	2.156000	0.67533	0.533000	0.62120	TTA	.	.	none		0.483	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		C	5559162	A	C	5559162	4	2	11	1	0	0	0	0	0	1	0	0	6603	372	13	5	1501	5	GPCPD1	20	5559162	Nonsense_Mutation	SNP	A	TCGA-FF-8042-01A-11D-2210-10		5559162	57466358	449	2734										
CST11	140880	hgsc.bcm.edu	37	chr20	23433317	23433317	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atccactgcaagctgtccttCgcatagttttctactgccat	6	13	1	0	rs34604301	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:23433317C>T	ENST00000377009.3	-	1	165	c.132G>A	c.(130-132)gcG>gcA	p.A44A	CST11_ENST00000377007.3_Silent_p.A44A	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	44					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGCTGTCCTTCGCATAGTTTT	0.478													C|||	22	0.00439297	0.0	0.0072	5008	,	,		21958	0.0		0.0159	False		,,,				2504	0.001				p.A44A		Atlas-SNP	.											CST11,colon,carcinoma,0,1	CST11	27	1	0			c.G132A						scavenged	.	C	,	14,4392	21.2+/-45.6	0,14,2189	202	177	185		132,132	-1.6	0	20	dbSNP_126	185	120,8480	61.7+/-123.6	0,120,4180	no	coding-synonymous,coding-synonymous	CST11	NM_080830.2,NM_130794.1	,	0,134,6369	TT,TC,CC		1.3953,0.3177,1.0303	,	44/104,44/139	23433317	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	140880	exon1			GTCCTTCGCATAG	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.132G>A	20.37:g.23433317C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	186	3	0.016129	NM_130794	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	CCDS13155.1																																																																																			C|0.991;T|0.009	0.009	strong		0.478	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		T	23433317	C	T	23433317	2	4	11	1	0	0	0	0	0	0	0	1	3971	871	31	1		1	CST11	20	23433317	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	17874155	23433317	39592203	450	2735										
ASXL1	171023	hgsc.bcm.edu	37	chr20	31023636	31023636	+	Frame_Shift_Del	DEL	G	G	-													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aacccaattggaaccaatctGccccactgtccaaggtgaat							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:31023636delG	ENST00000375687.4	+	13	3545	c.3121delG	c.(3121-3123)gccfs	p.A1041fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.A1036fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1041					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAATCTGCCCCACTGTC	0.542			"F, N, Mis"		"MDS, CMML"																																p.S1040fs		Pindel,Atlas-Indel	.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114	.	0			c.3120delT						PASS	.						226	187	200					20																	31023636		2203	4300	6503	SO:0001589	frameshift_variant	171023	exon12			.	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3121delG	20.37:g.31023636delG	ENSP00000364839:p.Ala1041fs	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	136	32	0.235	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	CCDS13201.1																																																																																			.	.	none		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		-	31023636	G	-	31023636	7	5	11	1	0	1	0	1	0	0	0	0	1066	1319	46	0	3177	0	ASXL1	20	31023636	Frame_Shift_Del	DEL	G	TCGA-FF-8042-01A-11D-2210-10	7590319	31023636	32001884	451	2736										
SAMHD1	25939	hgsc.bcm.edu	37	chr20	35559188	35559188	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tcatgacaaagtccagcaatCtgaacacagagaacatctcg	7	11	3	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:35559188C>A	ENST00000262878.4	-	5	799	c.600G>T	c.(598-600)caG>caT	p.Q200H	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	200	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GTCCAGCAATCTGAACACAGA	0.413																																					p.Q200H		Atlas-SNP	.											.	SAMHD1	62	.	0			c.G600T						PASS	.						194	177	183					20																	35559188		2203	4300	6503	SO:0001583	missense	25939	exon5			AGCAATCTGAACA	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.600G>T	20.37:g.35559188C>A	ENSP00000262878:p.Gln200His	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_015474	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529296	0.85706	.	.	ENSG00000101347	ENST00000262878	D	0.90385	-2.66	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.106561	0.64402	D	0.000003	D	0.94042	0.8091	M	0.75150	2.29	0.80722	D	1	D	0.60160	0.987	P	0.62014	0.897	D	0.93147	0.6546	10	0.44086	T	0.13	-16.5248	14.1219	0.65192	0.0:0.9234:0.0:0.0766	.	200	Q9Y3Z3	SAMH1_HUMAN	H	200	ENSP00000262878:Q200H	ENSP00000262878:Q200H	Q	-	3	2	SAMHD1	34992602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.216000	0.51176	2.850000	0.98022	0.650000	0.86243	CAG	.	.	none		0.413	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		A	35559188	C	A	35559188	3	1	11	1	0	0	0	0	1	0	0	0	13828	912	32	4	1328	4	SAMHD1	20	35559188	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	4535552	35559188	27466332	452	2737										
TOX2	84969	hgsc.bcm.edu	37	chr20	42679965	42679965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gatccaggagatggtccactCggaagtggctgcctatgact	13	10	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:42679965C>T	ENST00000358131.5	+	4	666	c.458C>T	c.(457-459)tCg>tTg	p.S153L	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.S102L|TOX2_ENST00000341197.4_Missense_Mutation_p.S144L|TOX2_ENST00000423191.2_Missense_Mutation_p.S102L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	153					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGTCCACTCGGAAGTGGCT	0.617																																					p.S153L		Atlas-SNP	.											TOX2_ENST00000348077,NS,carcinoma,-1,4	TOX2	158	4	0			c.C458T						scavenged	.																																			SO:0001583	missense	84969	exon4			TCCACTCGGAAGT	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.458C>T	20.37:g.42679965C>T	ENSP00000350849:p.Ser153Leu	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	170	3	0.0176471	NM_001098798	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804330	0.50315	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;2.45	5.58	5.58	0.84498	.	0.827554	0.11141	N	0.595264	T	0.45478	0.1344	L	0.35854	1.095	0.50313	D	0.999864	D;D;P;P;P	0.56287	0.957;0.975;0.672;0.913;0.918	B;B;B;B;B	0.41946	0.204;0.371;0.086;0.17;0.204	T	0.52162	-0.8612	10	0.62326	D	0.03	.	18.5722	0.91140	0.0:1.0:0.0:0.0	.	22;144;102;153;102	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	L	144;102;102;102;153;22	ENSP00000344724:S144L;ENSP00000396584:S102L;ENSP00000390278:S102L;ENSP00000362090:S102L;ENSP00000350849:S153L;ENSP00000396777:S22L	ENSP00000344724:S144L	S	+	2	0	TOX2	42113379	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.298000	0.65710	2.604000	0.88044	0.655000	0.94253	TCG	.	.	none		0.617	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			T	42679965	C	T	42679965	3	4	11	1	0	0	0	0	1	0	0	0	16375	893	31	1	575	1	TOX2	20	42679965	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	7120777	42679965	20345555	453	2738										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60885315	60885315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	atcagtccggtgactgccagGggccgcacctccagttccag	12	15	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr20:60885315G>A	ENST00000252999.3	-	77	10719	c.10653C>T	c.(10651-10653)ccC>ccT	p.P3551P	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3551	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGACTGCCAGGGGCCGCACCT	0.652																																					p.P3551P		Atlas-SNP	.											.	LAMA5	268	.	0			c.C10653T						PASS	.						33	39	37					20																	60885315		2201	4294	6495	SO:0001819	synonymous_variant	3911	exon77			TGCCAGGGGCCGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10653C>T	20.37:g.60885315G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	18	0.382979	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			.	.	none		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60885315	G	A	60885315	2	1	11	1	0	0	0	0	0	0	0	1	8609	1219	43	2		2	LAMA5	20	60885315	Silent	SNP	G	TCGA-FF-8042-01A-11D-2210-10	18205350	60885315	2140205	454	2739										
POTED	317754	hgsc.bcm.edu	37	chr21	15011839	15011839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attaaattttcttctagtgaTgaacaaaatgatacccggaa	6	6	2	3	rs182477426	byFrequency	TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:15011839T>C	ENST00000299443.5	+	10	1465	c.1413T>C	c.(1411-1413)gaT>gaC	p.D471D		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	471						plasma membrane (GO:0005886)		p.D471D(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CTTCTAGTGATGAACAAAATG	0.363													N|||	1402	0.279952	0.2632	0.1455	5008	,	,		3613	0.5258		0.2266	False		,,,				2504	0.1994				p.D471D		Atlas-SNP	.											POTED,NS,carcinoma,0,1	POTED	57	1	1	Substitution - coding silent(1)	stomach(1)	c.T1413C						scavenged	.						17	22	21					21																	15011839		824	3044	3868	SO:0001819	synonymous_variant	317754	exon10			TAGTGATGAACAA	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1413T>C	21.37:g.15011839T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	108	5	0.0462963	NM_174981	C9JCF7	Silent	SNP	ENST00000299443.5	37	CCDS13562.1																																																																																			T|0.500;C|0.500	0.500	weak		0.363	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		C	15011839	T	C	15011839	2	2	11	1	0	0	0	0	0	0	0	1	12263	1461	51	2		2	POTED	21	15011839	Silent	SNP	T	TCGA-FF-8042-01A-11D-2210-10		15011839	33118056	455	2740										
KRTAP19-5	337972	hgsc.bcm.edu	37	chr21	31874363	31874363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gcccaggtcatcgaagcctcCgtagccgtagcccaggcctc	11	17	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:31874363C>T	ENST00000334151.2	-	1	72	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	16						intermediate filament (GO:0005882)		p.G16R(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						TCGAAGCCTCCGTAGCCGTAG	0.577																																					p.G16R		Atlas-SNP	.											KRTAP19-5,NS,carcinoma,0,1	KRTAP19-5	32	1	1	Substitution - Missense(1)	endometrium(1)	c.G46A						scavenged	.						143	121	128					21																	31874363		2203	4300	6503	SO:0001583	missense	337972	exon1			AGCCTCCGTAGCC	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.46G>A	21.37:g.31874363C>T	ENSP00000334985:p.Gly16Arg	Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	129	4	0.0310078	NM_181611	A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	C	6.390	0.439985	0.12104	.	.	ENSG00000186977	ENST00000334151	T	0.13901	2.55	4.61	-1.15	0.09709	.	1.410960	0.05750	N	0.603023	T	0.07954	0.0199	.	.	.	0.09310	N	1	P	0.37731	0.607	B	0.30646	0.118	T	0.30119	-0.9989	9	0.87932	D	0	1.2087	1.6256	0.02722	0.1512:0.3439:0.3157:0.1892	.	16	Q3LI72	KR195_HUMAN	R	16	ENSP00000334985:G16R	ENSP00000334985:G16R	G	-	1	0	KRTAP19-5	30796234	0.000000	0.05858	0.001000	0.08648	0.412000	0.31113	-0.228000	0.09114	-0.025000	0.13918	0.591000	0.81541	GGA	.	.	none		0.577	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			T	31874363	C	T	31874363	3	4	11	1	0	0	0	0	1	0	0	0	8532	661	23	1	175	1	KRTAP19-5	21	31874363	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	16862524	31874363	16255532	456	2741										
HUNK	30811	hgsc.bcm.edu	37	chr21	33371236	33371236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttgctcacgaagataagaaCagccccccaaaagaggaggg	11	10	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:33371236C>T	ENST00000270112.2	+	11	2244	c.1884C>T	c.(1882-1884)aaC>aaT	p.N628N		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	628					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AAGATAAGAACAGCCCCCCAA	0.597																																					p.N628N		Atlas-SNP	.											.	HUNK	74	.	0			c.C1884T						PASS	.						48	48	48					21																	33371236		2203	4300	6503	SO:0001819	synonymous_variant	30811	exon11			TAAGAACAGCCCC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1884C>T	21.37:g.33371236C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	100	33	0.33	NM_014586		Silent	SNP	ENST00000270112.2	37	CCDS13610.1																																																																																			.	.	none		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		T	33371236	C	T	33371236	2	4	11	1	0	0	0	0	0	0	0	1	7458	477	17	2		2	HUNK	21	33371236	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1496873	33371236	14758659	457	2742										
ITSN1	6453	hgsc.bcm.edu	37	chr21	35258754	35258754	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gtgttcgagagggaccagttCtcaccagatggtgagtggaa	15	7	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:35258754C>T	ENST00000381318.3	+	39	5295	c.5007C>T	c.(5005-5007)ttC>ttT	p.F1669F	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.F1608F|ITSN1_ENST00000399367.3_Silent_p.F1664F|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.F1669F	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1669	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGACCAGTTCTCACCAGATG	0.542																																					p.F1669F		Atlas-SNP	.											ITSN1,colon,carcinoma,+2,1	ITSN1	166	1	0			c.C5007T						scavenged	.						96	77	83					21																	35258754		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon39			CCAGTTCTCACCA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.5007C>T	21.37:g.35258754C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	120	2	0.0166667	NM_003024	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.	.	none		0.542	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		T	35258754	C	T	35258754	2	4	11	1	0	0	0	0	0	0	0	1	7926	912	32	2		2	ITSN1	21	35258754	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1887518	35258754	12871141	458	2743										
DOPEY2	9980	hgsc.bcm.edu	37	chr21	37665692	37665692	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	caacattctgtttccagcatCaggcagttgatgccattctt	7	11	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:37665692C>A	ENST00000399151.3	+	37	6805	c.6720C>A	c.(6718-6720)atC>atA	p.I2240I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2240					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCAGCATCAGGCAGTTGA	0.458																																					p.I2240I		Atlas-SNP	.											DOPEY2,bladder,carcinoma,0,1	DOPEY2	184	1	0			c.C6720A						scavenged	.						88	82	84					21																	37665692		2203	4300	6503	SO:0001819	synonymous_variant	9980	exon37			CAGCATCAGGCAG	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6720C>A	21.37:g.37665692C>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	119	2	0.0168067	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	CCDS13643.1																																																																																			.	.	none		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		A	37665692	C	A	37665692	2	1	11	1	0	0	0	0	0	0	0	1	4708	816	29	4		4	DOPEY2	21	37665692	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2406938	37665692	10464203	459	2744										
ETS2	2114	hgsc.bcm.edu	37	chr21	40194761	40194761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ccagaacttgctggggttcaCgcccgaggaactgcacgcca	12	14	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:40194761C>T	ENST00000360214.3	+	11	1818	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	ETS2_ENST00000360938.3_Missense_Mutation_p.T453M	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	453					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTGGGGTTCACGCCCGAGGAA	0.632																																					p.T593M		Atlas-SNP	.											ETS2_ENST00000360214,caecum,carcinoma,-1,2	ETS2	87	2	0			c.C1778T						PASS	.						77	60	66					21																	40194761		2203	4300	6503	SO:0001583	missense	2114	exon11			GGTTCACGCCCGA		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1358C>T	21.37:g.40194761C>T	ENSP00000353344:p.Thr453Met	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	40	23	0.575	NM_001256295	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414164	0.83449	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.14640	2.49;2.49	5.62	5.62	0.85841	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.155857	0.56097	D	0.000028	T	0.33585	0.0868	M	0.68952	2.095	0.58432	D	0.999998	D	0.89917	1.0	P	0.57620	0.824	T	0.02498	-1.1150	10	0.87932	D	0	.	19.2718	0.94013	0.0:1.0:0.0:0.0	.	453	P15036	ETS2_HUMAN	M	453	ENSP00000353344:T453M;ENSP00000354194:T453M	ENSP00000353344:T453M	T	+	2	0	ETS2	39116631	1.000000	0.71417	0.979000	0.43373	0.927000	0.56198	5.598000	0.67585	2.634000	0.89283	0.655000	0.94253	ACG	.	.	none		0.632	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			T	40194761	C	T	40194761	3	4	11	1	0	0	0	0	1	0	0	0	5276	536	19	1	1392	1	ETS2	21	40194761	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	2529069	40194761	7935134	460	2745										
DSCAM	1826	hgsc.bcm.edu	37	chr21	41446993	41446993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tctttagcctctgctcccgcCgcctcctccgcacaaccagc	6	21	2	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:41446993C>T	ENST00000400454.1	-	27	5336	c.4859G>A	c.(4858-4860)cGg>cAg	p.R1620Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1620					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCTCCCGCCGCCTCCTCCG	0.627																																					p.R1620Q	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											DSCAM,NS,carcinoma,-1,1	DSCAM	347	1	0			c.G4859A						PASS	.						63	79	73					21																	41446993		2109	4217	6326	SO:0001583	missense	1826	exon27			TCCCGCCGCCTCC	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4859G>A	21.37:g.41446993C>T	ENSP00000383303:p.Arg1620Gln	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	128	52	0.40625	NM_001271534	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302381	0.95601	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.37	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	L	0.36672	1.1	0.44388	D	0.99729	D	0.89917	1.0	P	0.55965	0.788	T	0.61879	-0.6972	10	0.41790	T	0.15	.	19.812	0.96551	0.0:1.0:0.0:0.0	.	1620	O60469	DSCAM_HUMAN	Q	1620;1372	ENSP00000383303:R1620Q;ENSP00000385342:R1372Q	ENSP00000383303:R1620Q	R	-	2	0	DSCAM	40368863	1.000000	0.71417	0.509000	0.27700	0.879000	0.50718	7.395000	0.79876	2.685000	0.91497	0.655000	0.94253	CGG	.	.	none		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	41446993	C	T	41446993	3	4	11	1	0	0	0	0	1	0	0	0	4768	652	23	1	1207	1	DSCAM	21	41446993	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1252232	41446993	6682902	461	2746										
MX1	4599	hgsc.bcm.edu	37	chr21	42817373	42817373	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	attttctctccattttcctcAgaaatctctgcccctgttag	4	13	3	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:42817373A>G	ENST00000398600.2	+	14	2033		c.e14-1		AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000455164.2_Splice_Site|MX1_ENST00000398598.3_Splice_Site|MX1_ENST00000288383.6_Splice_Site	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1						apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATTTTCCTCAGAAATCTCTG	0.438																																					.		Atlas-SNP	.											.	MX1	58	.	0			c.1009-2A>G						PASS	.						79	85	83					21																	42817373		2203	4300	6503	SO:0001630	splice_region_variant	4599	exon14			TTCCTCAGAAATC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1009-1A>G	21.37:g.42817373A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	60	21	0.35	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Splice_Site	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859458	0.32884	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	.	.	.	4.89	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.317	0.49399	0.8471:0.1529:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MX1	41739243	1.000000	0.71417	0.943000	0.38184	0.530000	0.34684	7.482000	0.81143	0.937000	0.37394	0.528000	0.53228	.	.	.	none		0.438	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		Intron	G	42817373	A	G	42817373	5	3	11	1	0	0	0	0	0	0	1	0	9997	202	7	3	1037	3	MX1	21	42817373	Splice_Site	SNP	A	TCGA-FF-8042-01A-11D-2210-10	1370380	42817373	5312522	462	2747										
MCM3AP	8888	hgsc.bcm.edu	37	chr21	47704722	47704723	+	Frame_Shift_Ins	INS	-	-	C													0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	tttctctggctcagattcagINScccccagtattggtttgaac							TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr21:47704722_47704723insC	ENST00000397708.1	-	2	732_733	c.478_479insG	c.(478-480)gctfs	p.A160fs	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A160fs|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	160	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCAGATTCAGCCCCCAGTATT	0.446																																					p.A160fs		Pindel,Atlas-Indel	.											.	MCM3AP	146	.	0			c.479_480insG						PASS	.																																			SO:0001589	frameshift_variant	8888	exon1			.	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.479dupG	21.37:g.47704727_47704727dupC	ENSP00000380820:p.Ala160fs	Somatic	49	.	.		WXS	Illumina HiSeq	Phase_I	39	15	0.385	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	CCDS13734.1																																																																																			.	.	none		0.446	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		C	47704723	-	C	47704722	7	5	11	1	0	1	1	0	0	0	0	0	9388	971	34	0	5575	0	MCM3AP	21	47704722	Frame_Shift_Ins	INS	-	TCGA-FF-8042-01A-11D-2210-10	4887349	47704722	425173	463	2748										
CBX6	23466	hgsc.bcm.edu	37	chr22	39263079	39263079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggcgggacatacggtggcagCggcggatgtccttcttgagc	17	10	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr22:39263079C>T	ENST00000407418.3	-	5	497	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CBX6_ENST00000216083.6_Missense_Mutation_p.R107H			O95503	CBX6_HUMAN	chromobox homolog 6	125					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ACGGTGGCAGCGGCGGATGTC	0.697																																					p.R125H		Atlas-SNP	.											.	CBX6	26	.	0			c.G374A						PASS	.						10	9	9					22																	39263079		1978	3955	5933	SO:0001583	missense	23466	exon5			TGGCAGCGGCGGA		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.374G>A	22.37:g.39263079C>T	ENSP00000384490:p.Arg125His	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	30	10	0.333333	NM_014292	A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044789	0.93685	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.13	4.13	0.48395	.	0.317552	0.20986	U	0.082124	T	0.67249	0.2873	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.71820	-0.4477	9	0.72032	D	0.01	.	16.5945	0.84792	0.0:1.0:0.0:0.0	.	125	O95503	CBX6_HUMAN	H	125;107	.	ENSP00000216083:R107H	R	-	2	0	CBX6	37593025	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.822000	0.75277	2.138000	0.66242	0.407000	0.27541	CGC	.	.	none		0.697	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		T	39263079	C	T	39263079	3	4	11	1	0	0	0	0	1	0	0	0	2722	768	27	1	868	1	CBX6	22	39263079	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10		39263079	12041487	464	2749										
FBLN1	2192	hgsc.bcm.edu	37	chr22	45970519	45970519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gctgcctaccttccgcgagtTcacccgccctgaaggtgagt	11	15	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chr22:45970519T>C	ENST00000327858.6	+	15	1921	c.1826T>C	c.(1825-1827)tTc>tCc	p.F609S	FBLN1_ENST00000348697.2_Splice_Site_p.F609S	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	609					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCGCGAGTTCACCCGCCCT	0.642																																					p.F609S		Atlas-SNP	.											.	FBLN1	143	.	0			c.T1826C						PASS	.						131	77	96					22																	45970519		2203	4300	6503	SO:0001583	missense	2192	exon15			GCGAGTTCACCCG		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1826T>C	22.37:g.45970519T>C	ENSP00000331544:p.Phe609Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	46	4	0.0869565	NM_006486	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695144	0.68386	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83250	-1.59;-1.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	L	0.32530	0.975	0.52501	D	0.999959	D	0.76494	0.999	D	0.80764	0.994	D	0.85636	0.1273	10	0.44086	T	0.13	.	13.1527	0.59498	0.0:0.0:0.0:1.0	.	609	P23142	FBLN1_HUMAN	S	609	ENSP00000262723:F609S;ENSP00000331544:F609S	ENSP00000331544:F609S	F	+	2	0	FBLN1	44349183	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.632000	0.74281	1.921000	0.55644	0.460000	0.39030	TTC	.	.	none		0.642	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		C	45970519	T	C	45970519	3	2	11	1	0	0	0	0	1	0	0	0	5698	1783	62	2	2364	2	FBLN1	22	45970519	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	6707440	45970519	5334047	465	2750										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1584851	1584851	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacgaacgggatgaggaacaGcaggatgaagatggtgaaga	16	5	0	5			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:1584851G>C	ENST00000381297.4	-	2	811	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGAGGAACAGCAGGATGAAG	0.632			T	CRLF2	"B-ALL, Downs associated ALL"																																p.L201V		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.C601G						PASS	.						134	71	93					X																	1584851		2203	4296	6499	SO:0001583	missense	286530	exon2			GGAACAGCAGGAT	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.601C>G	X.37:g.1584851G>C	ENSP00000370697:p.Leu201Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	48	35	0.729167	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	3.766	-0.048645	0.07407	.	.	ENSG00000182162	ENST00000381297	T	0.71461	-0.57	2.41	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.085770	0.48286	U	0.000193	T	0.68531	0.3011	L	0.41632	1.29	0.09310	N	1	D	0.61080	0.989	P	0.62298	0.9	T	0.56523	-0.7965	10	0.17369	T	0.5	.	5.7904	0.18357	0.269:0.0:0.731:0.0	.	201	Q86VZ1	P2RY8_HUMAN	V	201	ENSP00000370697:L201V	ENSP00000370697:L201V	L	-	1	2	P2RY8	1544851	0.994000	0.37717	0.486000	0.27416	0.409000	0.31022	2.274000	0.43390	0.838000	0.34948	0.279000	0.19357	CTG	.	.	none		0.632	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		C	1584851	G	C	1584851	3	2	11	1	0	0	0	0	1	0	0	0	11355	962	34	4	482	4	P2RY8	23	1584851	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10		1584851	153685709	466	2751										
ARSF	416	hgsc.bcm.edu	37	chrX	3021805	3021805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aattgcattgtcttataggtGgaaaaggcatggggggctgg	16	4	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:3021805G>A	ENST00000381127.1	+	9	1326	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	ARSF_ENST00000359361.2_Missense_Mutation_p.G369R|ARSF_ENST00000537104.1_Missense_Mutation_p.G369R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	369					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTATAGGTGGAAAAGGCAT	0.428																																					p.G369R		Atlas-SNP	.											.	ARSF	97	.	0			c.G1105A						PASS	.						70	65	67					X																	3021805		2203	4300	6503	SO:0001583	missense	416	exon9			ATAGGTGGAAAAG	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1105G>A	X.37:g.3021805G>A	ENSP00000370519:p.Gly369Arg	Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	109	72	0.66055	NM_004042	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471316	0.43942	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94576	-3.46;-3.46;-3.46	3.43	3.43	0.39272	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.97028	0.9029	M	0.82323	2.585	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97468	1.0039	10	0.66056	D	0.02	.	14.2451	0.65983	0.0:0.0:1.0:0.0	.	369	P54793	ARSF_HUMAN	R	369	ENSP00000370519:G369R;ENSP00000445594:G369R;ENSP00000352319:G369R	ENSP00000352319:G369R	G	+	1	0	ARSF	3031805	1.000000	0.71417	0.066000	0.19879	0.007000	0.05969	6.109000	0.71528	1.316000	0.45131	0.411000	0.27672	GGA	.	.	none		0.428	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3021805	G	A	3021805	3	1	11	1	0	0	0	0	1	0	0	0	991	1349	47	2	1135	2	ARSF	23	3021805	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	1436954	3021805	152248755	467	2752										
TMSB4X	7114	hgsc.bcm.edu	37	chrX	12994407	12994407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gacaaacccgatatggctgaGatcgagaaattcgataagtc	10	8	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:12994407G>C	ENST00000380635.1	+	2	243	c.27G>C	c.(25-27)gaG>gaC	p.E9D	TMSB4X_ENST00000380633.1_Missense_Mutation_p.E9D|TMSB4X_ENST00000380636.1_Missense_Mutation_p.E9D|TMSB4X_ENST00000451311.2_Missense_Mutation_p.E9D			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	9					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						ATATGGCTGAGATCGAGAAAT	0.527																																					p.E9D		Atlas-SNP	.											.	TMSB4X	3	.	0			c.G27C						PASS	.						65	63	64					X																	12994407		2203	4298	6501	SO:0001583	missense	7114	exon2			GGCTGAGATCGAG		CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.27G>C	X.37:g.12994407G>C	ENSP00000370009:p.Glu9Asp	Somatic	366	0	0		WXS	Illumina HiSeq	Phase_I	212	141	0.665094	NM_021109	P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	ENST00000380635.1	37	CCDS35202.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544587	0.65198	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000010	T	0.69396	0.3106	.	.	.	0.36331	D	0.858899	D	0.62365	0.991	P	0.59595	0.86	T	0.78041	-0.2359	9	0.66056	D	0.02	-11.1719	11.3215	0.49424	0.0926:0.0:0.9074:0.0	.	9	P62328	TYB4_HUMAN	D	9	ENSP00000414376:E9D;ENSP00000370010:E9D;ENSP00000370009:E9D;ENSP00000370007:E9D	ENSP00000370007:E9D	E	+	3	2	TMSB4X	12904328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.324000	0.43831	2.064000	0.61679	0.600000	0.82982	GAG	.	.	none		0.527	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055779.1	NM_021109		C	12994407	G	C	12994407	3	2	11	1	0	0	0	0	1	0	0	0	16254	933	33	4	29	4	TMSB4X	23	12994407	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9972602	12994407	142276153	468	2753										
ZFX	7543	hgsc.bcm.edu	37	chrX	24229464	24229464	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	aaaagaaccagcacataatgCgacatcataaagaagttggc	8	8	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:24229464C>T	ENST00000379177.1	+	11	2816	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	ZFX_ENST00000338565.3_Nonsense_Mutation_p.R747*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.R797*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.R568*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.R797*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.R836*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	797					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GCACATAATGCGACATCATAA	0.423																																					p.R797X	Esophageal Squamous(20;306 562 7346 32868 37983)	Atlas-SNP	.											.	ZFX	61	.	0			c.C2389T						PASS	.						57	47	51					X																	24229464		2202	4300	6502	SO:0001587	stop_gained	7543	exon10			ATAATGCGACATC		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2389C>T	X.37:g.24229464C>T	ENSP00000368475:p.Arg797*	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	147	100	0.680272	NM_003410	B9EG97|O43668|Q8WYJ8	Nonsense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.393586	0.97533	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	.	.	.	5.41	3.63	0.41609	.	0.120124	0.36519	N	0.002558	.	.	.	.	.	.	0.41696	D	0.989374	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-7.1264	15.3833	0.74676	0.3533:0.6467:0.0:0.0	.	.	.	.	X	568;797;519;797;797;836;747	.	ENSP00000304985:R797X	R	+	1	2	ZFX	24139385	0.999000	0.42202	0.992000	0.48379	0.962000	0.63368	0.752000	0.26362	0.203000	0.20529	-0.936000	0.02699	CGA	.	.	none		0.423	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		T	24229464	C	T	24229464	4	4	11	1	0	0	0	0	0	1	0	0	17658	760	27	1	2474	1	ZFX	23	24229464	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11235057	24229464	131041096	469	2754										
MAGEB16	139604	hgsc.bcm.edu	37	chrX	35821008	35821008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgggaagtgctgaatttgaCgggagtatattctgggaaga	15	4	1	3			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:35821008C>T	ENST00000399989.1	+	2	974	c.695C>T	c.(694-696)aCg>aTg	p.T232M	MAGEB16_ENST00000399992.1_Missense_Mutation_p.T264M|MAGEB16_ENST00000399988.1_Missense_Mutation_p.T232M|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T232M|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T232M	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	232	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAATTTGACGGGAGTATAT	0.498																																					p.T232M		Atlas-SNP	.											.	MAGEB16	64	.	0			c.C695T						PASS	.						66	63	64					X																	35821008		2174	4283	6457	SO:0001583	missense	139604	exon2			ATTTGACGGGAGT		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.695C>T	X.37:g.35821008C>T	ENSP00000382871:p.Thr232Met	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	83	52	0.626506	NM_001099921	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.023161	0.00414	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	3.13	-2.0	0.07433	.	0.556178	0.18983	N	0.125826	T	0.00875	0.0029	N	0.00275	-1.725	0.09310	N	1	B	0.25441	0.126	B	0.15484	0.013	T	0.41928	-0.9481	10	0.02654	T	1	.	7.8393	0.29389	0.0:0.3154:0.0:0.6846	.	232	A2A368	MAGBG_HUMAN	M	232;264;232;232;232	ENSP00000382870:T232M;ENSP00000382874:T264M;ENSP00000382869:T232M;ENSP00000382871:T232M;ENSP00000382867:T232M	ENSP00000382867:T232M	T	+	2	0	MAGEB16	35730929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.451000	0.00466	-0.690000	0.05142	0.521000	0.50471	ACG	.	.	none		0.498	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			T	35821008	C	T	35821008	3	4	11	1	0	0	0	0	1	0	0	0	9174	536	19	1	697	1	MAGEB16	23	35821008	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	11591544	35821008	119449552	470	2755										
MSN	4478	hgsc.bcm.edu	37	chrX	64955264	64955264	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	agatgaaggcacaggcccggGaggagaagcaccagaagcag	16	9	0	4			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:64955264G>T	ENST00000360270.5	+	8	1103	c.931G>T	c.(931-933)Gag>Tag	p.E311*		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	311					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						ACAGGCCCGGGAGGAGAAGCA	0.587			T	ALK	ALCL																																p.E311X		Atlas-SNP	.		Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	MSN	89	.	0			c.G931T						PASS	.						51	33	39					X																	64955264		2203	4300	6503	SO:0001587	stop_gained	4478	exon8			GCCCGGGAGGAGA	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.931G>T	X.37:g.64955264G>T	ENSP00000353408:p.Glu311*	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	77	55	0.714286	NM_002444		Nonsense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	39	7.666558	0.98422	.	.	ENSG00000147065	ENST00000360270	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.7763	0.85551	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000353408:E311X	E	+	1	0	MSN	64871989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.756000	0.98918	2.278000	0.76064	0.594000	0.82650	GAG	.	.	none		0.587	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		T	64955264	G	T	64955264	4	4	11	1	0	0	0	0	0	1	0	0	9885	1175	41	4	961	4	MSN	23	64955264	Nonsense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	29134256	64955264	90315296	471	2756										
ZMYM3	9203	hgsc.bcm.edu	37	chrX	70462020	70462020	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	gggagggggcagcctcgtacCtcgccctttcctctggcgga	15	14	1	0			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:70462020C>T	ENST00000353904.2	-	23	3989	c.3802G>A	c.(3802-3804)Gac>Aac	p.D1268N	ZMYM3_ENST00000373998.1_Splice_Site_p.D1256N|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373988.1_Splice_Site_p.D1270N|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Splice_Site_p.D1268N	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1268					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCCTCGTACCTCGCCCTTTC	0.637																																					p.D1268N		Atlas-SNP	.											.	ZMYM3	137	.	0			c.G3802A						PASS	.						38	26	30					X																	70462020		2188	4286	6474	SO:0001630	splice_region_variant	9203	exon23			TCGTACCTCGCCC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3802+1G>A	X.37:g.70462020C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	35	27	0.771429	NM_005096	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356776	0.61293	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.45668	1.48;0.89;1.48;1.48	4.66	4.66	0.58398	.	0.175419	0.39544	N	0.001325	T	0.27697	0.0681	N	0.14661	0.345	0.50313	D	0.999865	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.06463	-1.0825	9	.	.	.	-13.7907	16.8803	0.86061	0.0:1.0:0.0:0.0	.	1256;1268	Q14202-2;Q14202	.;ZMYM3_HUMAN	N	1268;1256;1268;1270	ENSP00000322845:D1268N;ENSP00000363110:D1256N;ENSP00000343909:D1268N;ENSP00000363100:D1270N	.	D	-	1	0	ZMYM3	70378745	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.625000	0.74248	2.161000	0.67846	0.519000	0.50382	GAC	.	.	none		0.637	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	Missense_Mutation	T	70462020	C	T	70462020	5	4	11	1	0	0	0	0	0	0	1	0	17698	695	24	2	322	2	ZMYM3	23	70462020	Splice_Site	SNP	C	TCGA-FF-8042-01A-11D-2210-10	5506756	70462020	84808540	472	2757										
BRWD3	254065	hgsc.bcm.edu	37	chrX	80064532	80064532	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ctgatgctcctcgagctcctGcactagcacctgagcaaaag	9	14	0	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:80064532G>A	ENST00000373275.4	-	3	316	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	34					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCGAGCTCCTGCACTAGCACC	0.602																																					p.Q34X		Atlas-SNP	.											.	BRWD3	251	.	0			c.C100T						PASS	.						52	49	50					X																	80064532		2199	4298	6497	SO:0001587	stop_gained	254065	exon3			GCTCCTGCACTAG		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.100C>T	X.37:g.80064532G>A	ENSP00000362372:p.Gln34*	Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	123	83	0.674797	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	37	6.619038	0.97709	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.6	3.66	0.41972	.	0.081539	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9026	8.9154	0.35579	0.0:0.2224:0.7776:0.0	.	.	.	.	X	34	.	.	Q	-	1	0	BRWD3	79951188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.261000	0.51530	2.273000	0.75805	0.529000	0.55759	CAG	.	.	none		0.602	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	80064532	G	A	80064532	4	1	11	1	0	0	0	0	0	1	0	0	1526	1328	46	2	5464	2	BRWD3	23	80064532	Nonsense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	9602512	80064532	75206028	473	2758										
DRP2	1821	hgsc.bcm.edu	37	chrX	100497418	100497418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacttgtcaatggagaattcCcaggccctggaacagatcaa	9	11	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:100497418C>T	ENST00000395209.3	+	8	1460	c.933C>T	c.(931-933)tcC>tcT	p.S311S	DRP2_ENST00000541709.1_Silent_p.S233S|DRP2_ENST00000538510.1_Silent_p.S311S|DRP2_ENST00000402866.1_Silent_p.S311S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	311					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGAGAATTCCCAGGCCCTGG	0.488																																					p.S311S		Atlas-SNP	.											.	DRP2	98	.	0			c.C933T						PASS	.						141	128	132					X																	100497418		2203	4300	6503	SO:0001819	synonymous_variant	1821	exon8			GAATTCCCAGGCC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.933C>T	X.37:g.100497418C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	70	53	0.757143	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	CCDS14480.2																																																																																			.	.	none		0.488	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100497418	C	T	100497418	2	4	11	1	0	0	0	0	0	0	0	1	4764	610	22	2		2	DRP2	23	100497418	Silent	SNP	C	TCGA-FF-8042-01A-11D-2210-10	20432886	100497418	54773142	474	2759										
ARMCX5	64860	hgsc.bcm.edu	37	chrX	101858511	101858511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	actgtcatcattggttgcacCctttaacaagaatgagtcaa	7	9	3	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:101858511C>T	ENST00000604957.1	+	1	4064	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	ARMCX5_ENST00000246174.2_Missense_Mutation_p.P481L|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P481L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P481L|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P481L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P481L|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	481										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTGGTTGCACCCTTTAACAAG	0.308																																					p.P481L		Atlas-SNP	.											.	ARMCX5	55	.	0			c.C1442T						PASS	.						55	52	53					X																	101858511		2203	4298	6501	SO:0001583	missense	64860	exon3			TTGCACCCTTTAA		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1442C>T	X.37:g.101858511C>T	ENSP00000474720:p.Pro481Leu	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_022838	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.497123	0.00159	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.1	-1.49	0.08718	Armadillo-like helical (1);Armadillo-type fold (1);	0.671371	0.12373	N	0.474583	T	0.04634	0.0126	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37009	-0.9724	10	0.02654	T	1	1.1091	3.7361	0.08511	0.1792:0.3098:0.0:0.511	.	481	Q6P1M9	ARMX5_HUMAN	L	481	ENSP00000246174:P481L;ENSP00000439001:P481L;ENSP00000446385:P481L;ENSP00000445851:P481L;ENSP00000361827:P481L	ENSP00000246174:P481L	P	+	2	0	ARMCX5	101745167	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.653000	0.05360	-0.442000	0.07190	-0.192000	0.12808	CCC	.	.	none		0.308	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		T	101858511	C	T	101858511	3	4	11	1	0	0	0	0	1	0	0	0	962	623	22	2	1444	2	ARMCX5	23	101858511	Missense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	1361093	101858511	53412049	475	2760										
AMOT	154796	hgsc.bcm.edu	37	chrX	112033851	112033851	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	cacagttgcagcagcatccaGagcaaaatgtctcatcacat	7	12	2	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:112033851G>C	ENST00000524145.1	-	8	2160	c.2086C>G	c.(2086-2088)Ctg>Gtg	p.L696V	AMOT_ENST00000371959.3_Missense_Mutation_p.L696V|AMOT_ENST00000371958.1_Missense_Mutation_p.L464V|AMOT_ENST00000371962.1_Missense_Mutation_p.L464V|AMOT_ENST00000304758.1_Missense_Mutation_p.L287V			Q4VCS5	AMOT_HUMAN	angiomotin	696					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCAGCATCCAGAGCAAAATGT	0.473																																					p.L696V		Atlas-SNP	.											.	AMOT	204	.	0			c.C2086G						PASS	.						245	226	233					X																	112033851		2203	4300	6503	SO:0001583	missense	154796	exon7			CATCCAGAGCAAA	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2086C>G	X.37:g.112033851G>C	ENSP00000429013:p.Leu696Val	Somatic	424	0	0		WXS	Illumina HiSeq	Phase_I	191	116	0.60733	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377766	0.61735	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.22945	1.99;2.2;2.46;2.2;1.93	5.86	4.08	0.47627	Angiomotin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.34571	0.0902	L	0.39898	1.24	0.46749	D	0.999188	D	0.67145	0.996	D	0.65573	0.936	T	0.04216	-1.0968	10	0.25751	T	0.34	-11.8944	9.0425	0.36327	0.2535:0.0:0.7465:0.0	.	696	Q4VCS5	AMOT_HUMAN	V	287;696;464;696;464	ENSP00000305557:L287V;ENSP00000361027:L696V;ENSP00000361030:L464V;ENSP00000429013:L696V;ENSP00000361026:L464V	ENSP00000305557:L287V	L	-	1	2	AMOT	111920507	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.017000	0.40981	1.211000	0.43351	0.600000	0.82982	CTG	.	.	none		0.473	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		C	112033851	G	C	112033851	3	2	11	1	0	0	0	0	1	0	0	0	582	933	33	4	1188	4	AMOT	23	112033851	Missense_Mutation	SNP	G	TCGA-FF-8042-01A-11D-2210-10	10175340	112033851	43236709	476	2761										
SEPT6	23157	hgsc.bcm.edu	37	chrX	118797638	118797638	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggacttgcccaaacctgtctCtcctgaaaagcaaaaggata	8	11	1	1			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:118797638C>A	ENST00000343984.5	-	3	412	c.148G>T	c.(148-150)Gag>Tag	p.E50*	SEPT6_ENST00000394616.4_5'UTR|SEPT6_ENST00000394617.2_Nonsense_Mutation_p.E80*|SEPT6_ENST00000360156.7_Nonsense_Mutation_p.E50*|SEPT6_ENST00000394610.1_Nonsense_Mutation_p.E50*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.E50*|SEPT6_ENST00000354416.3_Nonsense_Mutation_p.E50*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.E50*	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	50	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AAACCTGTCTCTCCTGAAAAG	0.478			T	MLL	AML																																p.E50X		Atlas-SNP	.		Dom	yes		X	Xq24	23157	septin 6		L	.	SEPT6	53	.	0			c.G148T						PASS	.						140	131	134					X																	118797638		2203	4300	6503	SO:0001587	stop_gained	23157	exon3			CTGTCTCTCCTGA	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.148G>T	X.37:g.118797638C>A	ENSP00000341524:p.Glu50*	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	50	32	0.64	NM_145802	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Nonsense_Mutation	SNP	ENST00000343984.5	37	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	c	38	7.016911	0.98006	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394617;ENST00000520510	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.6198	0.76796	0.0:1.0:0.0:0.0	.	.	.	.	X	50;50;50;50;50;50;80;50	.	ENSP00000341524:E50X	E	-	1	0	SEPT6	118681666	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.439000	0.80444	2.073000	0.62155	0.597000	0.82753	GAG	.	.	none		0.478	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		A	118797638	C	A	118797638	4	1	11	1	0	0	0	0	0	1	0	0	14068	922	32	4	1210	4	SEPT6	23	118797638	Nonsense_Mutation	SNP	C	TCGA-FF-8042-01A-11D-2210-10	6763787	118797638	36472922	477	2762										
OCRL	4952	hgsc.bcm.edu	37	chrX	128709154	128709154	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	acgaaggtaccggaaagtctTtgaagatagtgtacgcatca	11	7	2	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:128709154T>G	ENST00000371113.4	+	16	1805	c.1640T>G	c.(1639-1641)tTt>tGt	p.F547C	OCRL_ENST00000357121.5_Missense_Mutation_p.F547C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	547	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CGGAAAGTCTTTGAAGATAGT	0.423																																					p.F547C		Atlas-SNP	.											.	OCRL	117	.	0			c.T1640G						PASS	.						217	176	190					X																	128709154		2203	4300	6503	SO:0001583	missense	4952	exon16			AAGTCTTTGAAGA	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1640T>G	X.37:g.128709154T>G	ENSP00000360154:p.Phe547Cys	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	105	86	0.819048	NM_000276	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059371	0.76074	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95412	-3.7;-3.7	5.68	5.68	0.88126	Endonuclease/exonuclease/phosphatase (1);	0.047623	0.85682	D	0.000000	D	0.97084	0.9047	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.69824	0.966;0.9	D	0.97274	0.9913	10	0.56958	D	0.05	.	13.6193	0.62128	0.0:0.0:0.0:1.0	.	547;547	Q01968-2;Q01968	.;OCRL_HUMAN	C	547	ENSP00000360154:F547C;ENSP00000349635:F547C	ENSP00000349635:F547C	F	+	2	0	OCRL	128536835	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.698000	0.84413	1.896000	0.54893	0.441000	0.28932	TTT	.	.	none		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		G	128709154	T	G	128709154	3	3	11	1	0	0	0	0	1	0	0	0	10823	1841	64	5	1702	5	OCRL	23	128709154	Missense_Mutation	SNP	T	TCGA-FF-8042-01A-11D-2210-10	9911516	128709154	26561406	478	2763										
MAGEC3	139081	hgsc.bcm.edu	37	chrX	140985325	140985325	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0486257928118393	23	1	0.609398496240601	1.88781055900621	0.470116248157189	0.0325942029399336	0.11136352671144	0	ggatcccagaaagctgctcaCtatacattgggtgcagagaa	11	9	1	2			TCGA-FF-8042-01A-11D-2210-10	TCGA-FF-8042-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	897a4500-6fb8-4e81-aa07-021a26d632fb	92bd05d0-5cb1-4e14-9c66-c3b020b1d9c2	g.chrX:140985325C>A	ENST00000298296.1	+	7	1728				MAGEC3_ENST00000544766.1_Missense_Mutation_p.T296N|MAGEC3_ENST00000536088.1_Missense_Mutation_p.T296N|MAGEC3_ENST00000443323.2_Missense_Mutation_p.T216N|MAGEC3_ENST00000409007.1_Missense_Mutation_p.T296N	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTGCTCACTATACATTGG	0.527																																					p.T296N		Atlas-SNP	.											.	MAGEC3	228	.	0			c.C887A						PASS	.						73	73	73					X																	140985325		2203	4300	6503	SO:0001627	intron_variant	139081	exon5			TGCTCACTATACA	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1728+53C>A	X.37:g.140985325C>A		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	169	141	0.83432	NM_177456	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	8.239	0.806342	0.16467	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	1.25	0.292	0.15737	.	.	.	.	.	T	0.30916	0.0780	H	0.96048	3.76	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.08249	-1.0731	8	.	.	.	.	6.1961	0.20550	0.0:0.7821:0.0:0.2179	.	296	Q3SYA7	.	N	296;216;296;296	ENSP00000441107:T296N;ENSP00000438254:T216N;ENSP00000440444:T296N;ENSP00000386566:T296N	.	T	+	2	0	MAGEC3	140812991	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.207000	0.09384	-0.423000	0.07394	-1.954000	0.00483	ACT	.	.	none		0.527	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		A	140985325	C	A	140985325	1	1	11	0	1	0	0	0	0	0	0	0	9182	565	20	4		4	MAGEC3	23	140985325	Intron	SNP	C	TCGA-FF-8042-01A-11D-2210-10	12276171	140985325	14285235	479	2764										
CHD5	26038	hgsc.bcm.edu	37	chr1	6186637	6186637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctcccggcacgcaccctggTcctcctgggaggcatcgttg	12	17	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:6186637T>C	ENST00000262450.3	-	26	4172	c.4073A>G	c.(4072-4074)gAc>gGc	p.D1358G	CHD5_ENST00000378021.1_Missense_Mutation_p.D215G	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGCACCCTGGTCCTCCTGGGA	0.672																																					p.D1358G		Atlas-SNP	.											CHD5_ENST00000262450,right_upper_lobe,carcinoma,-1,1	CHD5	267	1	0			c.A4073G						scavenged	.						63	44	50					1																	6186637		2203	4300	6503	SO:0001583	missense	26038	exon26			CCCTGGTCCTCCT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4073A>G	1.37:g.6186637T>C	ENSP00000262450:p.Asp1358Gly	Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	220	6	0.0272727	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	34	5.295450	0.95574	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91996	-2.95;2.04	4.5	4.5	0.54988	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	L	0.56769	1.78	0.80722	D	1	D;P	0.69078	0.997;0.947	D;P	0.83275	0.996;0.76	D	0.95184	0.8302	10	0.72032	D	0.01	-37.2401	14.1277	0.65233	0.0:0.0:0.0:1.0	.	1358;215	Q8TDI0;Q5TG85	CHD5_HUMAN;.	G	1358;874;215;766;766;215	ENSP00000262450:D1358G;ENSP00000367260:D215G	ENSP00000262450:D1358G	D	-	2	0	CHD5	6109224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	1.807000	0.52817	0.459000	0.35465	GAC	.	.	none		0.672	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6186637	T	C	6186637	3	2	12	1	0	0	0	0	1	0	0	0	3328	1667	58	2	1855	2	CHD5	1	6186637	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10		6186637	243063984	1	2765										
NMNAT1	64802	hgsc.bcm.edu	37	chr1	10042628	10042628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcagaaggggccagagcattCgctacttggtaccagatctt	11	10	2	3	rs375110174		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:10042628C>T	ENST00000377205.1	+	5	853	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	237			R -> C (in LCA9; does not affect nuclear localization). {ECO:0000269|PubMed:22842227, ECO:0000269|PubMed:22842229}.|R -> L (in LCA9). {ECO:0000269|PubMed:22842230}.		NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGAGCATTCGCTACTTGGT	0.478																																					p.R237C		Atlas-SNP	.											NMNAT1,NS,adenocarcinoma,-1,1	NMNAT1	18	1	0			c.C709T						scavenged	.	C	CYS/ARG	0,4406		0,0,2203	67	66	66		709	5	1	1		66	2,8598	2.2+/-6.3	0,2,4298	no	missense	NMNAT1	NM_022787.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	237/280	10042628	2,13004	2203	4300	6503	SO:0001583	missense	64802	exon5			AGCATTCGCTACT	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.709C>T	1.37:g.10042628C>T	ENSP00000366410:p.Arg237Cys	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_022787	B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	CCDS108.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803897	0.70682	0.0	2.33E-4	ENSG00000173614	ENST00000377205	D	0.98028	-4.67	5.01	5.01	0.66863	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.058855	0.64402	D	0.000004	D	0.98927	0.9636	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.63192	0.912	D	0.99690	1.1001	10	0.87932	D	0	-39.9159	18.6767	0.91531	0.0:1.0:0.0:0.0	.	237	Q9HAN9	NMNA1_HUMAN	C	237	ENSP00000366410:R237C	ENSP00000366410:R237C	R	+	1	0	NMNAT1	9965215	0.986000	0.35501	1.000000	0.80357	0.925000	0.55904	2.604000	0.46274	2.476000	0.83614	0.462000	0.41574	CGC	.	.	none		0.478	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			T	10042628	C	T	10042628	3	4	12	1	0	0	0	0	1	0	0	0	10498	884	31	1	723	1	NMNAT1	1	10042628	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3855991	10042628	239207993	2	2766										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855752	12855752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaacccctcggagctctgctGgagaaaattgctgcctctct	10	13	2	1	rs80197258	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:12855752G>A	ENST00000332296.7	+	4	1135	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	PRAMEF1_ENST00000400814.3_Silent_p.L99L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	344					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L344L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTCTGCTGGAGAAAATTG	0.557																																					p.L344L		Atlas-SNP	.											PRAMEF1,NS,carcinoma,0,2	PRAMEF1	78	2	2	Substitution - coding silent(2)	prostate(2)	c.G1032A						scavenged	.						188	192	191					1																	12855752		2203	4300	6503	SO:0001819	synonymous_variant	65121	exon4			TCTGCTGGAGAAA	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1032G>A	1.37:g.12855752G>A		Somatic	764	9	0.0117801		WXS	Illumina HiSeq	Phase_I	862	13	0.0150812	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			G|0.997;A|0.003	0.003	strong		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12855752	G	A	12855752	2	1	12	1	0	0	0	0	0	0	0	1	12425	1335	47	2		2	PRAMEF1	1	12855752	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2813124	12855752	236394869	3	2767										
PRAMEF11	440560	hgsc.bcm.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	10	9	1	2	rs59802947	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031				p.R57R		Atlas-SNP	.											PRAMEF11,NS,carcinoma,0,1	PRAMEF11	72	1	1	Substitution - coding silent(1)	endometrium(1)	c.A171G						scavenged	.																																			SO:0001819	synonymous_variant	440560	exon3			TTTCCATCTCCTG	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	53	5	0.0943396	NM_001146344		Silent	SNP	ENST00000535591.1	37	CCDS53268.1																																																																																			T|0.986;C|0.014	0.014	strong		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		C	12887686	T	C	12887686	2	2	12	1	0	0	0	0	0	0	0	1	12427	1432	50	2		2	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	31934	12887686	236362935	4	2768										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	299	10	0.0334448		WXS	Illumina HiSeq	Phase_I	341	23	0.0674487	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	12	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	20022	12907708	236342913	5	2769										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22201196	22201196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccaggtagaggccactgggCgtgcgtgtgtagcctgtgtc	16	11	0	1	rs550724412		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:22201196C>T	ENST00000374695.3	-	27	3520	c.3441G>A	c.(3439-3441)acG>acA	p.T1147T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1147	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.T1147T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCCACTGGGCGTGCGTGTGT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16595	0.0		0.0	False		,,,				2504	0.0				p.T1147T		Atlas-SNP	.											HSPG2,colon,carcinoma,0,1	HSPG2	311	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G3441A						scavenged	.						39	41	40					1																	22201196		2202	4299	6501	SO:0001819	synonymous_variant	3339	exon27			ACTGGGCGTGCGT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3441G>A	1.37:g.22201196C>T		Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	289	3	0.0103806	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	8.277	0.814592	0.16607	.	.	ENSG00000142798	ENST00000427897	.	.	.	5.02	-3.63	0.04529	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	.	1.7401	0.02950	0.1147:0.3514:0.2255:0.3084	.	.	.	.	T	2	.	.	A	-	1	0	HSPG2	22073783	0.000000	0.05858	0.781000	0.31783	0.945000	0.59286	-0.631000	0.05496	-0.066000	0.12998	-0.301000	0.09380	GCC	.	.	none		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22201196	C	T	22201196	2	4	12	1	0	0	0	0	0	0	0	1	7430	755	27	1		1	HSPG2	1	22201196	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9293488	22201196	227049425	6	2770										
LYPLA2	11313	hgsc.bcm.edu	37	chr1	24121214	24121214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttcttgagaagctgctgcctCctgtctaactagtcgctggc	10	12	2	1	rs143915461		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:24121214C>T	ENST00000374514.3	+	10	995	c.688C>T	c.(688-690)Cct>Tct	p.P230S	LYPLA2_ENST00000374501.1_Missense_Mutation_p.P163S|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374503.3_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	230					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.P230S(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGCTGCCTCCTGTCTAACT	0.592																																					p.P230S		Atlas-SNP	.											LYPLA2,arm,malignant_melanoma,0,1	LYPLA2	16	1	1	Substitution - Missense(1)	skin(1)	c.C688T						scavenged	.						39	35	37					1																	24121214		2203	4297	6500	SO:0001583	missense	11313	exon10			CTGCCTCCTGTCT	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.688C>T	1.37:g.24121214C>T	ENSP00000363638:p.Pro230Ser	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	185	3	0.0162162	NM_007260	Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930525	0.34096	.	.	ENSG00000011009	ENST00000374514;ENST00000374506;ENST00000374501	T;T	0.23348	1.91;1.92	4.89	3.91	0.45181	.	0.057819	0.64402	D	0.000001	T	0.23806	0.0576	L	0.59912	1.85	0.80722	D	1	B;B	0.21147	0.046;0.052	B;B	0.23150	0.044;0.027	T	0.11421	-1.0588	10	0.54805	T	0.06	.	6.9947	0.24777	0.1727:0.7351:0.0:0.0922	.	207;230	E9PH41;O95372	.;LYPA2_HUMAN	S	230;207;163	ENSP00000363638:P230S;ENSP00000363625:P163S	ENSP00000363625:P163S	P	+	1	0	LYPLA2	23993801	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.125000	0.50469	2.265000	0.75225	0.455000	0.32223	CCT	.	.	weak		0.592	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			T	24121214	C	T	24121214	3	4	12	1	0	0	0	0	1	0	0	0	9117	855	30	2	722	2	LYPLA2	1	24121214	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1920018	24121214	225129407	7	2771										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608867	26608867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actggggccgggaccgggacCgggactggggccgggaccgg	22	12	0	0	rs193142354		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:26608867C>A	ENST00000374222.1	-	16	1950	c.1486G>T	c.(1486-1488)Ggt>Tgt	p.G496C	UBXN11_ENST00000357089.4_Missense_Mutation_p.G463C|UBXN11_ENST00000314675.7_Missense_Mutation_p.G376C|UBXN11_ENST00000374217.2_Missense_Mutation_p.G463C|UBXN11_ENST00000374223.1_Missense_Mutation_p.G253C|UBXN11_ENST00000374221.3_Missense_Mutation_p.G496C			Q5T124	UBX11_HUMAN	UBX domain protein 11	496	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactgggg	0.721																																					p.G496C		Atlas-SNP	.											UBXN11,colon,carcinoma,0,2	UBXN11	54	2	1	Deletion - In frame(1)	ovary(1)	c.G1486T						scavenged	.						25	29	28					1																	26608867		1765	4016	5781	SO:0001583	missense	91544	exon16			CGGGACCGGGACT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1486G>T	1.37:g.26608867C>A	ENSP00000363339:p.Gly496Cys	Somatic	26	2	0.0769231		WXS	Illumina HiSeq	Phase_I	26	7	0.269231	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	261	0.11950549450549451	72	0.14634146341463414	35	0.09668508287292818	16	0.027972027972027972	138	0.1820580474934037	A	8.132	0.783217	0.16189	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.23950	1.88;1.96;2.3;2.24;2.24;2.3	.	.	.	.	.	.	.	.	T	0.00073	0.0002	N	0.22421	0.69	0.58432	P	2.9999999999752447E-6	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;P	0.65323	0.934;0.934;0.934;0.861	T	0.12578	-1.0542	7	0.66056	D	0.02	.	6.1326	0.20213	0.0:0.6805:0.3194:0.0	.	463;458;376;496	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	C	376;253;463;496;496;463	ENSP00000324721:G376C;ENSP00000363340:G253C;ENSP00000349601:G463C;ENSP00000363338:G496C;ENSP00000363339:G496C;ENSP00000363334:G463C	ENSP00000324721:G376C	G	-	1	0	UBXN11	26481454	0.000000	0.05858	0.121000	0.21740	0.128000	0.20619	-1.193000	0.03049	0.392000	0.25172	0.391000	0.25812	GGT	C|0.880;A|0.120	0.120	strong		0.721	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608867	C	A	26608867	3	1	12	1	0	0	0	0	1	0	0	0	16910	652	23	4	80	4	UBXN11	1	26608867	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2487653	26608867	222641754	8	2772										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38227086	38227086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caactggataccttcgcagaAgtcaccacgctcctggaatc	8	14	1	1	rs4653328	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:38227086A>T	ENST00000373048.4	-	3	840	c.841T>A	c.(841-843)Ttc>Atc	p.F281I	EPHA10_ENST00000427468.2_Missense_Mutation_p.F281I|EPHA10_ENST00000319637.6_Missense_Mutation_p.F281I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	281			F -> I (in dbSNP:rs4653328). {ECO:0000269|PubMed:17344846}.		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTCGCAGAAGTCACCACGC	0.667													T|||	1769	0.353235	0.4402	0.3012	5008	,	,		11536	0.4831		0.2833	False		,,,				2504	0.2106				p.F281I		Atlas-SNP	.											.	EPHA10	120	.	0			c.T841A						PASS	.	T	ILE/PHE,ILE/PHE	1706,2604		311,1084,760	59	63	62		841,841	-1.5	0.8	1	dbSNP_111	62	2269,6083		305,1659,2212	yes	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	21,21	616,2743,2972	TT,TA,AA		27.1671,39.5824,31.3931	benign,benign	281/1009,281/296	38227086	3975,8687	2155	4176	6331	SO:0001583	missense	284656	exon3			CGCAGAAGTCACC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.841T>A	1.37:g.38227086A>T	ENSP00000362139:p.Phe281Ile	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	785	0.35943223443223443	208	0.42276422764227645	97	0.26795580110497236	252	0.4405594405594406	228	0.3007915567282322	T	7.996	0.754258	0.15778	0.395824	0.271671	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	D;D;T	0.97279	-4.32;-4.32;4.58	4.23	-1.55	0.08558	.	0.934531	0.08818	N	0.889212	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	P	0.999999624185	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.26121	-1.0112	9	0.25751	T	0.34	.	3.9977	0.09566	0.3304:0.2198:0.0:0.4498	rs4653328;rs52814760;rs4653328	281;281	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	I	281	ENSP00000397746:F281I;ENSP00000362139:F281I;ENSP00000316395:F281I	ENSP00000316395:F281I	F	-	1	0	EPHA10	37999673	0.003000	0.15002	0.803000	0.32268	0.397000	0.30659	-0.342000	0.07801	-0.327000	0.08551	-1.255000	0.01485	TTC	A|0.665;T|0.335	0.335	strong		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227086	A	T	38227086	3	4	12	1	0	0	0	0	1	0	0	0	5166	72	3	5	2283	5	EPHA10	1	38227086	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	11618219	38227086	211023535	9	2773										
MTF1	4520	hgsc.bcm.edu	37	chr1	38305756	38305756	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tactctcctcggtgagtcttCtggtgggttcgcaggttgcc	13	11	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:38305756C>T	ENST00000373036.4	-	3	623	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	161					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q161H(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGTGAGTCTTCTGGTGGGTTC	0.537																																					p.Q161Q		Atlas-SNP	.											MTF1,NS,NS,0,1	MTF1	67	1	1	Substitution - Missense(1)	pancreas(1)	c.G483A						scavenged	.						156	137	144					1																	38305756		2203	4300	6503	SO:0001819	synonymous_variant	4520	exon3			AGTCTTCTGGTGG	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.483G>A	1.37:g.38305756C>T		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	301	3	0.00996678	NM_005955	B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	CCDS30676.1																																																																																			.	.	none		0.537	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		T	38305756	C	T	38305756	2	4	12	1	0	0	0	0	0	0	0	1	9922	912	32	2		2	MTF1	1	38305756	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	78670	38305756	210944865	10	2774										
ATP6V0B	533	hgsc.bcm.edu	37	chr1	44442793	44442793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcagtggggctgccctggccGatgctcagaaccccagcctc	13	16	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:44442793G>A	ENST00000472174.2	+	7	889	c.496G>A	c.(496-498)Gat>Aat	p.D166N	ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.D119N|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.D213N|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.D119N|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.D166N|B4GALT2_ENST00000356836.6_5'Flank|B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000309519.7_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	166					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCCTGGCCGATGCTCAGAA	0.577																																					p.D166N		Atlas-SNP	.											ATP6V0B,NS,carcinoma,0,1	ATP6V0B	22	1	0			c.G496A						scavenged	.						77	80	79					1																	44442793		2203	4300	6503	SO:0001583	missense	533	exon7			CTGGCCGATGCTC	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.496G>A	1.37:g.44442793G>A	ENSP00000431605:p.Asp166Asn	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	243	4	0.0164609	NM_004047	D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214019	0.95104	.	.	ENSG00000117410	ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664;ENST00000440531	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.1	5.1	0.69264	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.989	T	0.62426	-0.6857	10	0.23302	T	0.38	-9.361	18.5145	0.90931	0.0:0.0:1.0:0.0	.	166;166	Q99437;E9PNL3	VATO_HUMAN;.	N	166;166;119;213;119;9	ENSP00000431605:D166N;ENSP00000434729:D166N;ENSP00000236067:D119N;ENSP00000432754:D213N;ENSP00000434094:D119N	ENSP00000236067:D119N	D	+	1	0	ATP6V0B	44215380	1.000000	0.71417	0.808000	0.32385	0.997000	0.91878	9.351000	0.97073	2.379000	0.81126	0.655000	0.94253	GAT	.	.	none		0.577	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		A	44442793	G	A	44442793	3	1	12	1	0	0	0	0	1	0	0	0	1171	1058	37	1	522	1	ATP6V0B	1	44442793	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	6137037	44442793	204807828	11	2775										
ORC1L	4998	hgsc.bcm.edu	37	chr1	52838903	52838903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atcctggctgacgttgagccGcacccgaaggagcagatcgt	13	12	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:52838903G>A	ENST00000371568.3	-	17	2754	c.2536C>T	c.(2536-2538)Cgg>Tgg	p.R846W	ORC1_ENST00000371566.1_Missense_Mutation_p.R846W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	846	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGTTGAGCCGCACCCGAAGG	0.552																																					p.R846W		Atlas-SNP	.											.	ORC1	79	.	0			c.C2536T						PASS	.						102	107	105					1																	52838903		2203	4300	6503	SO:0001583	missense	4998	exon17			TGAGCCGCACCCG		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2536C>T	1.37:g.52838903G>A	ENSP00000360623:p.Arg846Trp	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	148	61	0.412162	NM_004153	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527904	0.44969	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.46819	0.86;0.86	5.25	2.27	0.28462	CDC6, C-terminal (1);	0.115966	0.56097	D	0.000023	T	0.64505	0.2604	M	0.78637	2.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63537	-0.6615	10	0.87932	D	0	-16.4175	8.0772	0.30722	0.0714:0.0:0.5136:0.415	.	841;846	B7Z8H0;Q13415	.;ORC1_HUMAN	W	846	ENSP00000360623:R846W;ENSP00000360621:R846W	ENSP00000360621:R846W	R	-	1	2	ORC1	52611491	1.000000	0.71417	0.994000	0.49952	0.007000	0.05969	4.294000	0.59043	0.318000	0.23185	-0.142000	0.14014	CGG	.	.	none		0.552	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		A	52838903	G	A	52838903	3	1	12	1	0	0	0	0	1	0	0	0	11261	1086	38	1	53	1	ORC1L	1	52838903	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	8396110	52838903	196411718	12	2776										
CYP2J2	1573	hgsc.bcm.edu	37	chr1	60381646	60381646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgttctcgcataggggtcaCggggcggttcccaaagtttt	13	9	2	0	rs11572242	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:60381646C>T	ENST00000371204.3	-	2	380	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	CYP2J2_ENST00000492633.1_5'Flank	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	113			V -> M (in dbSNP:rs11572242).		arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.V113M(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	ATAGGGGTCACGGGGCGGTTC	0.428													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		19082	0.0		0.0	False		,,,				2504	0.0				p.V113M		Atlas-SNP	.											CYP2J2,colon,carcinoma,0,1	CYP2J2	34	1	1	Substitution - Missense(1)	large_intestine(1)	c.G337A						PASS	.						108	110	110					1																	60381646		2203	4300	6503	SO:0001583	missense	1573	exon2			GGGTCACGGGGCG	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.337G>A	1.37:g.60381646C>T	ENSP00000360247:p.Val113Met	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	128	44	0.34375	NM_000775	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	C	7.417	0.635998	0.14386	.	.	ENSG00000134716	ENST00000371204	T	0.69040	-0.37	5.8	-11.6	0.00059	.	3.755470	0.00166	N	0.000010	T	0.40372	0.1114	N	0.25789	0.76	0.09310	N	1	P	0.38020	0.615	B	0.36186	0.219	T	0.56275	-0.8006	10	0.44086	T	0.13	.	10.2805	0.43537	0.0643:0.5248:0.2124:0.1986	rs11572242;rs52814181;rs11572242	113	P51589	CP2J2_HUMAN	M	113	ENSP00000360247:V113M	ENSP00000360247:V113M	V	-	1	0	CYP2J2	60154234	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.110000	0.00150	-3.492000	0.00153	-2.084000	0.00378	GTG	C|0.998;T|0.002	0.002	strong		0.428	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		T	60381646	C	T	60381646	3	4	12	1	0	0	0	0	1	0	0	0	4172	536	19	1	1203	1	CYP2J2	1	60381646	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7542743	60381646	188868975	13	2777										
INADL	10207	hgsc.bcm.edu	37	chr1	62545164	62545164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaaaatatccaacaaaagtcTccttcagttcacaagagata	4	9	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:62545164T>C	ENST00000371158.2	+	32	4282	c.4168T>C	c.(4168-4170)Tcc>Ccc	p.S1390P	MIR3116-1_ENST00000584654.1_RNA|INADL_ENST00000545929.1_Missense_Mutation_p.S63P|INADL_ENST00000543708.1_Missense_Mutation_p.S174P|INADL_ENST00000316485.6_Missense_Mutation_p.S1390P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1390					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACAAAAGTCTCCTTCAGTTC	0.373																																					p.S1390P		Atlas-SNP	.											INADL_ENST00000543708,NS,carcinoma,-1,2	INADL	179	2	0			c.T4168C						scavenged	.						153	144	147					1																	62545164		2203	4300	6503	SO:0001583	missense	10207	exon32			AAAGTCTCCTTCA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4168T>C	1.37:g.62545164T>C	ENSP00000360200:p.Ser1390Pro	Somatic	405	1	0.00246914		WXS	Illumina HiSeq	Phase_I	414	7	0.0169082	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502825	0.26949	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708;ENST00000545929	T;T;T;T;T	0.30981	2.74;2.68;3.53;2.31;1.51	5.4	1.56	0.23342	.	0.166361	0.37136	N	0.002224	T	0.14787	0.0357	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.002;0.001;0.005	T	0.10894	-1.0610	10	0.46703	T	0.11	.	3.2147	0.06695	0.0:0.2628:0.215:0.5222	.	63;174;849;1390;1390;1390	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	P	1390;1390;1390;1390;174;174;63	ENSP00000360200:S1390P;ENSP00000326199:S1390P;ENSP00000307496:S174P;ENSP00000445790:S174P;ENSP00000440094:S63P	ENSP00000307496:S174P	S	+	1	0	INADL	62317752	0.000000	0.05858	0.309000	0.25155	0.456000	0.32438	-0.148000	0.10219	0.897000	0.36392	0.533000	0.62120	TCC	.	.	none		0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62545164	T	C	62545164	3	2	12	1	0	0	0	0	1	0	0	0	7731	1551	54	3	4290	3	INADL	1	62545164	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2163518	62545164	186705457	14	2778										
PTGER3	5733	hgsc.bcm.edu	37	chr1	71318536	71318536	+	3'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caggttttaatttccccaaaAttcctcctggaaaacaaaca	4	11	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:71318536A>C	ENST00000370931.3	-	0	1413				PTGER3_ENST00000370932.2_Missense_Mutation_p.F362V|PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.F371V	NM_198714.1	NP_942007.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TTTCCCCAAAATTCCTCCTGG	0.328																																					p.F371V		Atlas-SNP	.											PTGER3_ENST00000460330,NS,carcinoma,0,1	PTGER3	246	1	0			c.T1111G						PASS	.						131	146	141					1																	71318536		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733	exon4			CCCAAAATTCCTC	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000370931.3:c.*30T>G	1.37:g.71318536A>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	122	45	0.368852	NM_198716	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000370931.3	37	CCDS656.1	.	.	.	.	.	.	.	.	.	.	A	3.509	-0.100135	0.07010	.	.	ENSG00000050628	ENST00000370932;ENST00000460330	T;T	0.17370	2.28;2.5	2.92	1.79	0.24919	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.30139	N	0.804125	B;B	0.15141	0.012;0.012	B;B	0.19946	0.017;0.027	T	0.47156	-0.9139	8	0.17369	T	0.5	.	4.5446	0.12074	0.8453:0.0:0.1547:0.0	.	362;371	P43115-3;P43115-4	.;.	V	362;371	ENSP00000359970:F362V;ENSP00000418073:F371V	ENSP00000359970:F362V	F	-	1	0	PTGER3	71091124	0.128000	0.22383	0.482000	0.27366	0.272000	0.26649	0.026000	0.13599	0.528000	0.28580	0.377000	0.23210	TTT	.	.	none		0.328	PTGER3-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957		C	71318536	A	C	71318536	1	2	12	0	1	0	0	0	0	0	0	0	12744	101	4	5		5	PTGER3	1	71318536	3'UTR	SNP	A	TCGA-FF-8043-01A-11D-2210-10	8773372	71318536	177932085	15	2779										
SLC44A5	204962	hgsc.bcm.edu	37	chr1	75684254	75684254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	catggcccagtaataagtagCgaatgcaccagcaagggcgc	12	11	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:75684254C>T	ENST00000370855.5	-	17	1563	c.1450G>A	c.(1450-1452)Gct>Act	p.A484T	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A484T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A354T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	484					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAATAAGTAGCGAATGCACCA	0.428																																					p.A484T		Atlas-SNP	.											SLC44A5_ENST00000370859,NS,carcinoma,0,2	SLC44A5	231	2	0			c.G1450A						scavenged	.						161	150	154					1																	75684254		2203	4300	6503	SO:0001583	missense	204962	exon17			AAGTAGCGAATGC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1450G>A	1.37:g.75684254C>T	ENSP00000359892:p.Ala484Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	127	3	0.023622	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841395	0.91197	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26810	1.71;1.71;1.71	5.6	5.6	0.85130	.	0.099447	0.64402	D	0.000002	T	0.53077	0.1774	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.987;0.987;0.987;0.997;0.977	T	0.55927	-0.8063	10	0.51188	T	0.08	-15.4931	19.9938	0.97376	0.0:1.0:0.0:0.0	.	478;523;484;484;523	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	484;523;484;354;477	ENSP00000359896:A484T;ENSP00000359892:A484T;ENSP00000443090:A354T	ENSP00000359892:A484T	A	-	1	0	SLC44A5	75456842	1.000000	0.71417	0.997000	0.53966	0.428000	0.31595	7.792000	0.85828	2.814000	0.96858	0.655000	0.94253	GCT	.	.	none		0.428	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		T	75684254	C	T	75684254	3	4	12	1	0	0	0	0	1	0	0	0	14639	768	27	1	852	1	SLC44A5	1	75684254	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	4365718	75684254	173566367	16	2780										
SLC44A5	204962	hgsc.bcm.edu	37	chr1	75685006	75685006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gagctatgactttgtatacaGgtacccccgatgtcgccaag	10	11	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:75685006G>T	ENST00000370855.5	-	16	1315	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P401H|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P271H	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	401					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTTGTATACAGGTACCCCCGA	0.378																																					p.P401H		Atlas-SNP	.											SLC44A5,caecum,carcinoma,-1,1	SLC44A5	231	1	0			c.C1202A						scavenged	.						99	92	95					1																	75685006		2203	4300	6503	SO:0001583	missense	204962	exon16			TATACAGGTACCC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1202C>A	1.37:g.75685006G>T	ENSP00000359892:p.Pro401His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	3	0.0344828	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707200	0.48412	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.25912	1.77;1.77;1.77	5.04	5.04	0.67666	.	0.104481	0.64402	D	0.000003	T	0.45175	0.1329	M	0.83384	2.64	0.54753	D	0.999988	D;D;D;D;D	0.76494	0.996;0.999;0.996;0.999;0.998	D;D;D;D;D	0.73708	0.972;0.979;0.979;0.981;0.952	T	0.35201	-0.9798	10	0.22109	T	0.4	-11.2995	18.7654	0.91869	0.0:0.0:1.0:0.0	.	395;440;401;401;440	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	H	401;440;401;271;394	ENSP00000359896:P401H;ENSP00000359892:P401H;ENSP00000443090:P271H	ENSP00000359892:P401H	P	-	2	0	SLC44A5	75457594	1.000000	0.71417	0.149000	0.22428	0.003000	0.03518	8.995000	0.93534	2.504000	0.84457	0.655000	0.94253	CCT	.	.	none		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		T	75685006	G	T	75685006	3	4	12	1	0	0	0	0	1	0	0	0	14639	1000	35	4	1104	4	SLC44A5	1	75685006	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	752	75685006	173565615	17	2781										
ZNF326	284695	hgsc.bcm.edu	37	chr1	90487882	90487882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaataatccaatagtgaaggCgcgatatgaacgttttgtta	9	5	0	2	rs572409353		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:90487882C>T	ENST00000340281.4	+	11	1522	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	ZNF326_ENST00000455342.2_Missense_Mutation_p.A254V|ZNF326_ENST00000370447.3_Missense_Mutation_p.A371V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	460					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.A460V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ATAGTGAAGGCGCGATATGAA	0.323																																					p.A460V		Atlas-SNP	.											ZNF326,caecum,carcinoma,0,1	ZNF326	60	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1379T						scavenged	.						198	219	212					1																	90487882		2203	4299	6502	SO:0001583	missense	284695	exon11			TGAAGGCGCGATA	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1379C>T	1.37:g.90487882C>T	ENSP00000340796:p.Ala460Val	Somatic	205	1	0.00487805		WXS	Illumina HiSeq	Phase_I	225	4	0.0177778	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603313	0.66445	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.23147	1.92;1.92;1.92	5.26	4.35	0.52113	.	0.126175	0.52532	D	0.000067	T	0.12347	0.0300	L	0.44542	1.39	0.42777	D	0.993859	B;B	0.17268	0.021;0.008	B;B	0.12156	0.007;0.007	T	0.03545	-1.1026	10	0.51188	T	0.08	-2.7662	14.1345	0.65279	0.0:0.9269:0.0:0.073	.	460;460	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	460;460;371;254	ENSP00000340796:A460V;ENSP00000359476:A371V;ENSP00000403470:A254V	ENSP00000340796:A460V	A	+	2	0	ZNF326	90260470	0.995000	0.38212	0.736000	0.30914	0.911000	0.54048	3.350000	0.52224	1.347000	0.45714	-0.229000	0.12294	GCG	.	.	none		0.323	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		T	90487882	C	T	90487882	3	4	12	1	0	0	0	0	1	0	0	0	17843	768	27	1	1425	1	ZNF326	1	90487882	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	14802876	90487882	158762739	18	2782										
HIAT1	64645	hgsc.bcm.edu	37	chr1	100547630	100547630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctggctctgcttgttgccttGtttattccggaacataccaa	8	11	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:100547630G>A	ENST00000370152.3	+	12	1474	c.1338G>A	c.(1336-1338)ttG>ttA	p.L446L	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	446					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGTTGCCTTGTTTATTCCGG	0.463																																					p.L446L		Atlas-SNP	.											.	HIAT1	46	.	0			c.G1338A						PASS	.						109	100	103					1																	100547630		2203	4300	6503	SO:0001819	synonymous_variant	64645	exon12			TGCCTTGTTTATT	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1338G>A	1.37:g.100547630G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	257	112	0.435798	NM_033055	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	CCDS763.1																																																																																			.	.	none		0.463	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		A	100547630	G	A	100547630	2	1	12	1	0	0	0	0	0	0	0	1	7097	1368	48	2		2	HIAT1	1	100547630	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	10059748	100547630	148702991	19	2783										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103484376	103484376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cttaaaacatttacatactgCaggtcctgctggtcctggtg	9	10	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:103484376C>T	ENST00000370096.3	-	10	1660	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	COL11A1_ENST00000353414.4_Missense_Mutation_p.A411T|COL11A1_ENST00000512756.1_Missense_Mutation_p.A334T|COL11A1_ENST00000358392.2_Missense_Mutation_p.A462T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	450	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACATACTGCAGGTCCTGCT	0.328																																					p.A462T		Atlas-SNP	.											.	COL11A1	972	.	0			c.G1384A						PASS	.						54	55	55					1																	103484376		2203	4300	6503	SO:0001583	missense	1301	exon10			ATACTGCAGGTCC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1348G>A	1.37:g.103484376C>T	ENSP00000359114:p.Ala450Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	130	53	0.407692	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845119	0.51164	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.68	4.72	0.59763	.	0.172573	0.50627	D	0.000108	T	0.81192	0.4771	N	0.17082	0.46	0.45867	D	0.998729	B;B;B;B	0.23650	0.089;0.073;0.073;0.089	B;B;B;B	0.29077	0.098;0.059;0.059;0.098	T	0.76798	-0.2826	10	0.25106	T	0.35	.	11.916	0.52765	0.1356:0.7333:0.131:0.0	.	334;411;462;450	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	450;462;411;334;462	ENSP00000359114:A450T;ENSP00000351163:A462T;ENSP00000302551:A411T;ENSP00000426533:A334T;ENSP00000408640:A462T	ENSP00000302551:A411T	A	-	1	0	COL11A1	103256964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.673000	0.37534	2.676000	0.91093	0.637000	0.83480	GCA	.	.	none		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103484376	C	T	103484376	3	4	12	1	0	0	0	0	1	0	0	0	3667	710	25	2	4304	2	COL11A1	1	103484376	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2936746	103484376	145766245	20	2784										
FNDC7	163479	hgsc.bcm.edu	37	chr1	109280146	109280146	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctggaagtacacttggaatgGgtaagtcatttttctcatgg	11	6	2	0	rs572093742		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:109280146G>A	ENST00000370017.3	+	11	2447	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Splice_Site_p.V725M	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	724						extracellular region (GO:0005576)		p.V491M(1)|p.V724M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ACTTGGAATGGGTAAGTCATT	0.299																																					p.V724M		Atlas-SNP	.											FNDC7_ENST00000370017,NS,carcinoma,0,2	FNDC7	113	2	2	Substitution - Missense(2)	kidney(2)	c.G2170A						scavenged	.						112	119	117					1																	109280146		2202	4300	6502	SO:0001630	splice_region_variant	163479	exon11			GGAATGGGTAAGT		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2170+1G>A	1.37:g.109280146G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	125	3	0.024	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392765	0.62066	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	D;D	0.97959	-4.63;-4.63	5.34	5.34	0.76211	.	0.147571	0.45126	D	0.000384	D	0.94745	0.8304	L	0.47716	1.5	0.58432	D	0.999998	B	0.23058	0.079	B	0.20577	0.03	D	0.92620	0.6107	10	0.72032	D	0.01	-2.228	17.5941	0.88006	0.0:0.0:1.0:0.0	.	724	E9PAZ5	.	M	724;725	ENSP00000359034:V724M;ENSP00000271311:V725M	ENSP00000271311:V725M	V	+	1	0	FNDC7	109081669	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.563000	0.67352	2.665000	0.90641	0.655000	0.94253	GTG	.	.	none		0.299	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	Missense_Mutation	A	109280146	G	A	109280146	5	1	12	1	0	0	0	0	0	0	1	0	5973	1246	43	2	2212	2	FNDC7	1	109280146	Splice_Site	SNP	G	TCGA-FF-8043-01A-11D-2210-10	5795770	109280146	139970475	21	2785										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117158983	117158983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgctcagaaggtccctggTagccactcacattgcaccag	9	14	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:117158983T>G	ENST00000369486.3	-	3	905	c.140A>C	c.(139-141)tAc>tCc	p.Y47S	IGSF3_ENST00000369483.1_Missense_Mutation_p.Y47S|IGSF3_ENST00000318837.6_Missense_Mutation_p.Y47S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	47	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGGTCCCTGGTAGCCACTCAC	0.577																																					p.Y47S		Atlas-SNP	.											IGSF3_ENST00000369483,NS,carcinoma,+1,2	IGSF3	294	2	0			c.A140C						scavenged	.						28	28	28					1																	117158983		2203	4292	6495	SO:0001583	missense	3321	exon3			CCCTGGTAGCCAC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.140A>C	1.37:g.117158983T>G	ENSP00000358498:p.Tyr47Ser	Somatic	88	2	0.0227273		WXS	Illumina HiSeq	Phase_I	139	6	0.0431655	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567123	0.65651	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02323	4.34;4.34;4.34	4.65	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.463445	0.23369	N	0.048939	T	0.03915	0.0110	M	0.69823	2.125	0.52099	D	0.999948	P;P	0.49783	0.928;0.919	P;P	0.56823	0.784;0.807	T	0.16394	-1.0404	10	0.72032	D	0.01	-17.8621	10.721	0.46040	0.6328:0.0:0.0:0.3672	.	47;47	O75054;A6NJZ6	IGSF3_HUMAN;.	S	47	ENSP00000358498:Y47S;ENSP00000358495:Y47S;ENSP00000321184:Y47S	ENSP00000321184:Y47S	Y	-	2	0	IGSF3	116960506	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.704000	0.37857	-0.387000	0.07809	0.454000	0.30748	TAC	T|0.500;G|0.500	0.500	weak		0.577	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117158983	T	G	117158983	3	3	12	1	0	0	0	0	1	0	0	0	7601	1638	57	5	3544	5	IGSF3	1	117158983	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	7878837	117158983	132091638	22	2786										
TDRKH	11022	hgsc.bcm.edu	37	chr1	151747586	151747586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctctgttttcttctatgtcTtcaggaagctcaattgcgta	8	9	6	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:151747586T>C	ENST00000368822.1	-	11	2124	c.1491A>G	c.(1489-1491)gaA>gaG	p.E497E	TDRKH_ENST00000440583.2_Silent_p.E273E|TDRKH_ENST00000368823.1_Silent_p.E493E|TDRKH_ENST00000368824.3_Silent_p.E497E|TDRKH_ENST00000368825.3_Silent_p.E452E|TDRKH_ENST00000458431.2_Silent_p.E497E|TDRKH_ENST00000368827.6_Silent_p.E497E			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	497					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.E497E(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTATGTCTTCAGGAAGCT	0.403																																					p.E497E		Atlas-SNP	.											TDRKH,NS,carcinoma,0,1	TDRKH	45	1	1	Substitution - coding silent(1)	breast(1)	c.A1491G						scavenged	.						155	138	144					1																	151747586		1890	4122	6012	SO:0001819	synonymous_variant	11022	exon11			TATGTCTTCAGGA	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1491A>G	1.37:g.151747586T>C		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	151	2	0.013245	NM_001083965	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																			.	.	none		0.403	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		C	151747586	T	C	151747586	2	2	12	1	0	0	0	0	0	0	0	1	15734	1606	56	3		3	TDRKH	1	151747586	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	34588603	151747586	97503035	23	2787										
FLG	2312	hgsc.bcm.edu	37	chr1	152284649	152284649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgaccctgagtgcctggagcCgtctcttgattgttcctcat	10	12	2	3	rs142623038	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:152284649C>T	ENST00000368799.1	-	3	2748	c.2713G>A	c.(2713-2715)Ggc>Agc	p.G905S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	905	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGGAGCCGTCTCTTGAT	0.567									Ichthyosis				-|||	15	0.00299521	0.003	0.0029	5008	,	,		21416	0.001		0.006	False		,,,				2504	0.002				p.G905S		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G2713A						scavenged	.	C	SER/GLY	9,4397		0,9,2194	400	381	388		2713	-5.8	0	1	dbSNP_134	388	50,8550		0,50,4250	no	missense	FLG	NM_002016.1	56	0,59,6444	TT,TC,CC		0.5814,0.2043,0.4536	benign	905/4062	152284649	59,12947	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGAGCCGTCTCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2713G>A	1.37:g.152284649C>T	ENSP00000357789:p.Gly905Ser	Somatic	419	5	0.0119332		WXS	Illumina HiSeq	Phase_I	265	5	0.0188679	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	8	0.003663003663003663	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	-	8.071	0.770148	0.15983	0.002043	0.005814	ENSG00000143631	ENST00000368799	T	0.00824	5.65	2.93	-5.77	0.02369	.	.	.	.	.	T	0.00210	0.0006	L	0.59436	1.845	0.09310	N	1	B	0.28760	0.221	B	0.19666	0.026	T	0.51212	-0.8734	9	0.05721	T	0.95	.	0.3944	0.00415	0.1836:0.2463:0.1864:0.3837	.	905	P20930	FILA_HUMAN	S	905	ENSP00000357789:G905S	ENSP00000357789:G905S	G	-	1	0	FLG	150551273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.440000	0.02412	-1.405000	0.02048	-0.532000	0.04303	GGC	C|0.995;T|0.005	0.005	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284649	C	T	152284649	3	4	12	1	0	0	0	0	1	0	0	0	5922	652	23	1	9476	1	FLG	1	152284649	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	537063	152284649	96965972	24	2788										
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	TGGCTC	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtcagctccggaggctgctgTggctccagctctgggggctg					rs544759833|rs200931119	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	TGGCTC	TGGCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:152749003_152749008delTGGCTC	ENST00000334371.2	+	1	156_161	c.156_161delTGGCTC	c.(154-162)tgtggctcc>tgc	p.GS53del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	53					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.68														25	0.00499201	0.0008	0.0058	5008	,	,		15823	0.002		0.001	False		,,,				2504	0.0174				p.52_54del		Atlas-Indel	.											.	LCE1F	42	.	0			c.155_160del						PASS	.			13,4251		0,13,2119						2.4	0.8			40	164,8090		0,164,3963	no	coding	LCE1F	NM_178354.2		0,177,6082	A1A1,A1R,RR		1.9869,0.3049,1.414				177,12341				SO:0001651	inframe_deletion	353137	exon1			.		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.156_161delTGGCTC	1.37:g.152749003_152749008delTGGCTC	ENSP00000334187:p.Gly53_Ser54del	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	118	14	0.118644	NM_178354		In_Frame_Del	DEL	ENST00000334371.2	37	CCDS1023.1																																																																																			.	.	none		0.68	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		-	152749008	TGGCTC	-	152749003	7	5	12	1	0	1	0	1	0	0	0	0	8664	1702	59	0	158	0	LCE1F	1	152749003	In_Frame_Del	DEL	TGGCTC	TCGA-FF-8043-01A-11D-2210-10	464354	152749003	96501618	25	2789										
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749039	152749039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggctgctgcagctctgggggTggtggctgctgcagctctgg	19	10	2	0	rs202038292|rs149277953	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:152749039T>C	ENST00000334371.2	+	1	192	c.192T>C	c.(190-192)ggT>ggC	p.G64G		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGTGGTGGCTGCT	0.672																																					p.G64G		Atlas-SNP	.											LCE1F,NS,carcinoma,+2,1	LCE1F	42	1	1	Deletion - In frame(1)	stomach(1)	c.T192C						scavenged	.						30	33	32					1																	152749039		2201	4299	6500	SO:0001819	synonymous_variant	353137	exon1			TGGGGGTGGTGGC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.192T>C	1.37:g.152749039T>C		Somatic	81	1	0.0123457		WXS	Illumina HiSeq	Phase_I	46	12	0.26087	NM_178354		Silent	SNP	ENST00000334371.2	37	CCDS1023.1																																																																																			T|0.954;C|0.046	0.046	strong		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		C	152749039	T	C	152749039	2	2	12	1	0	0	0	0	0	0	0	1	8664	1683	59	2		2	LCE1F	1	152749039	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	36	152749039	96501582	26	2790										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						PASS	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	12	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	2093204	154842243	94408378	27	2791	51	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	40	13	0.325	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	12	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1	154842244	94408377	28	2792	51	2								
ASH1L	55870	hgsc.bcm.edu	37	chr1	155491066	155491066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttttcaattttaaatttcccTctgaaaagtttgtttctttc	3	7	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:155491066T>C	ENST00000368346.3	-	2	884	c.245A>G	c.(244-246)gAg>gGg	p.E82G	ASH1L_ENST00000548830.1_Missense_Mutation_p.E82G|ASH1L_ENST00000392403.3_Missense_Mutation_p.E82G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	82					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAAATTTCCCTCTGAAAAGTT	0.388																																					p.E82G		Atlas-SNP	.											ASH1L,colon,carcinoma,+1,1	ASH1L	279	1	0			c.A245G						scavenged	.						158	167	164					1																	155491066		2203	4300	6503	SO:0001583	missense	55870	exon2			TTTCCCTCTGAAA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.245A>G	1.37:g.155491066T>C	ENSP00000357330:p.Glu82Gly	Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	222	4	0.018018	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	T	25.8	4.676972	0.88445	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.94184	-3.37;-3.37	5.89	5.89	0.94794	.	0.154403	0.45606	D	0.000347	D	0.93141	0.7816	L	0.27053	0.805	0.51233	D	0.99991	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	D	0.94970	0.8116	10	0.87932	D	0	.	15.9698	0.80004	0.0:0.0:0.0:1.0	.	82;82	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	82	ENSP00000357330:E82G;ENSP00000376204:E82G	ENSP00000357330:E82G	E	-	2	0	ASH1L	153757690	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.257000	0.78362	2.250000	0.74265	0.455000	0.32223	GAG	.	.	none		0.388	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155491066	T	C	155491066	3	2	12	1	0	0	0	0	1	0	0	0	1041	1551	54	3	8757	3	ASH1L	1	155491066	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	648822	155491066	93759555	29	2793										
ALDH9A1	223	hgsc.bcm.edu	37	chr1	165652258	165652258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccgcataatactccaggcaCtgccaggaaatgtcaatgtc	8	13	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:165652258C>T	ENST00000354775.4	-	3	721	c.417G>A	c.(415-417)caG>caA	p.Q139Q	ALDH9A1_ENST00000538148.1_Silent_p.Q45Q|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	115					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACTCCAGGCACTGCCAGGAAA	0.512																																					p.Q139Q	Ovarian(179;1583 2014 18106 33801 42447)	Atlas-SNP	.											.	ALDH9A1	75	.	0			c.G417A						PASS	.						113	98	103					1																	165652258		2203	4300	6503	SO:0001819	synonymous_variant	223	exon3			CAGGCACTGCCAG	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.417G>A	1.37:g.165652258C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	CCDS1250.2																																																																																			.	.	none		0.512	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			T	165652258	C	T	165652258	2	4	12	1	0	0	0	0	0	0	0	1	506	564	20	2		2	ALDH9A1	1	165652258	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	10161192	165652258	83598363	30	2794										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167095865	167095865	+	Frame_Shift_Del	DEL	C	C	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggaggtaccacgccaagagCaagagagaggaggcggcaga							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:167095865delC	ENST00000361200.2	+	6	1663	c.1497delC	c.(1495-1497)agcfs	p.S499fs	DUSP27_ENST00000443333.1_Frame_Shift_Del_p.S499fs|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.S499fs			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	499					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACGCCAAGAGCAAGAGAGAGG	0.617																																					p.S499fs		Pindel,Atlas-Indel	.											.	DUSP27	235	.	0			c.1496delG						PASS	.						48	46	47					1																	167095865		2203	4300	6503	SO:0001589	frameshift_variant	92235	exon5			.	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1497delC	1.37:g.167095865delC	ENSP00000354483:p.Ser499fs	Somatic	155	.	.		WXS	Illumina HiSeq	Phase_I	186	48	0.258	NM_001080426	A0AUM4|Q9C074	Frame_Shift_Del	DEL	ENST00000361200.2	37	CCDS30932.1																																																																																			.	.	none		0.617	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		-	167095865	C	-	167095865	7	5	12	1	0	1	0	1	0	0	0	0	4824	709	25	0	1515	0	DUSP27	1	167095865	Frame_Shift_Del	DEL	C	TCGA-FF-8043-01A-11D-2210-10	1443607	167095865	82154756	31	2795										
METTL13	51603	hgsc.bcm.edu	37	chr1	171759644	171759644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cagcggcctgctgatgcggaGgacctccctgcagccccggg	15	16	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:171759644G>A	ENST00000361735.3	+	5	1628	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	METTL13_ENST00000367737.5_Silent_p.E298E|METTL13_ENST00000362019.3_Silent_p.E368E|METTL13_ENST00000458517.1_Silent_p.E453E|METTL13_ENST00000466643.1_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	454							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CTGATGCGGAGGACCTCCCTG	0.537																																					p.E454E		Atlas-SNP	.											METTL13,middle_lobe,carcinoma,+2,1	METTL13	67	1	0			c.G1362A						scavenged	.						99	94	96					1																	171759644		2203	4300	6503	SO:0001819	synonymous_variant	51603	exon5			TGCGGAGGACCTC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1362G>A	1.37:g.171759644G>A		Somatic	271	4	0.0147601		WXS	Illumina HiSeq	Phase_I	300	3	0.01	NM_015935	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																			.	.	none		0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		A	171759644	G	A	171759644	2	1	12	1	0	0	0	0	0	0	0	1	9497	991	35	2		2	METTL13	1	171759644	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4663779	171759644	77490977	32	2796										
NPHS2	7827	hgsc.bcm.edu	37	chr1	179526214	179526214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaagaatttcagtgagggatCgatgtgctaggagacgcttc	14	6	1	3	rs61747728	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:179526214C>T	ENST00000367615.4	-	5	754	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	229			R -> Q (appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein). {ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:21722858, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:24509478}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGTGAGGGATCGATGTGCTAG	0.408													C|||	73	0.0145767	0.003	0.013	5008	,	,		20498	0.0		0.0417	False		,,,				2504	0.0184				p.R229Q		Atlas-SNP	.											NPHS2,caecum,carcinoma,-1,1	NPHS2	46	1	0			c.G686A	GRCh37	CM023107|CM077322	NPHS2	M	rs61747728	scavenged	.	C	GLN/ARG	34,4372	39.2+/-71.8	0,34,2169	106	88	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	686	5.9	1	1	dbSNP_129	94	323,8277	113.3+/-173.4	2,319,3979	yes	missense	NPHS2	NM_014625.2	43	2,353,6148	TT,TC,CC		3.7558,0.7717,2.7449	possibly-damaging	229/384	179526214	357,12649	2203	4300	6503	SO:0001583	missense	7827	exon5			AGGGATCGATGTG	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.686G>A	1.37:g.179526214C>T	ENSP00000356587:p.Arg229Gln	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	281	4	0.0142349	NM_014625	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	47	0.02152014652014652	3	0.006097560975609756	7	0.019337016574585635	0	0.0	37	0.048812664907651716	C	21.0	4.074946	0.76415	0.007717	0.037558	ENSG00000116218	ENST00000367615	D	0.94966	-3.57	5.93	5.93	0.95920	.	0.070347	0.64402	D	0.000015	T	0.72606	0.3481	L	0.43152	1.355	0.80722	D	1	P	0.47962	0.903	B	0.39904	0.313	D	0.83551	0.0101	10	0.46703	T	0.11	-10.5416	18.9177	0.92512	0.0:1.0:0.0:0.0	.	229	Q9NP85	PODO_HUMAN	Q	229	ENSP00000356587:R229Q	ENSP00000356587:R229Q	R	-	2	0	NPHS2	177792837	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.410000	0.44592	2.826000	0.97356	0.655000	0.94253	CGA	C|0.974;T|0.026	0.026	strong		0.408	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			T	179526214	C	T	179526214	3	4	12	1	0	0	0	0	1	0	0	0	10583	884	31	1	481	1	NPHS2	1	179526214	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7766570	179526214	69724407	33	2797										
C1orf27	54953	hgsc.bcm.edu	37	chr1	186363119	186363119	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tactcaagcaactagtcattCttttgatgtcagagtgctaa	7	8	4	2	rs12084264	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:186363119C>G	ENST00000287859.6	+	9	877	c.752C>G	c.(751-753)tCt>tGt	p.S251C	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Missense_Mutation_p.S219C	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	251			S -> C (in dbSNP:rs12084264). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ACTAGTCATTCTTTTGATGTC	0.279													C|||	1164	0.232428	0.149	0.4078	5008	,	,		14393	0.127		0.335	False		,,,				2504	0.2239				p.S251C		Atlas-SNP	.											C1orf27_ENST00000287859,NS,carcinoma,0,2	C1orf27	41	2	0			c.C752G						scavenged	.	C	,CYS/SER,CYS/SER	581,2775		48,485,1145	27	24	25		,656,752	3.4	0.9	1	dbSNP_120	25	2399,5149		385,1629,1760	yes	intron,missense,missense	C1orf27	NM_001164245.1,NM_001164246.1,NM_017847.5	,112,112	433,2114,2905	GG,GC,CC		31.7833,17.3123,27.3294	,benign,benign	,219/423,251/455	186363119	2980,7924	1678	3774	5452	SO:0001583	missense	54953	exon9			GTCATTCTTTTGA	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.752C>G	1.37:g.186363119C>G	ENSP00000287859:p.Ser251Cys	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	245	3	0.0122449	NM_017847	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	557	0.25503663003663	65	0.13211382113821138	148	0.4088397790055249	77	0.1346153846153846	267	0.35224274406332456	C	15.80	2.939210	0.52972	0.173123	0.317833	ENSG00000157181	ENST00000419367;ENST00000432021;ENST00000287859	T;T	0.46451	0.87;0.87	5.34	3.43	0.39272	.	0.556512	0.18307	N	0.145224	T	0.00012	0.0000	L	0.50333	1.59	0.09310	P	0.99999999387866	D;B	0.57899	0.981;0.0	P;B	0.53062	0.717;0.003	T	0.43702	-0.9375	9	0.37606	T	0.19	-3.9611	6.5884	0.22634	0.0:0.5515:0.3334:0.1151	rs12084264;rs17521893;rs12084264	219;251	E9PFR7;Q5SWX8	.;ODR4_HUMAN	C	219;251;251	ENSP00000395084:S219C;ENSP00000287859:S251C	ENSP00000287859:S251C	S	+	2	0	C1orf27	184629742	0.008000	0.16893	0.940000	0.37924	0.976000	0.68499	0.050000	0.14120	0.605000	0.29947	-0.300000	0.09419	TCT	C|0.756;G|0.244	0.244	strong		0.279	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		G	186363119	C	G	186363119	3	3	12	1	0	0	0	0	1	0	0	0	2036	913	32	4	782	4	C1orf27	1	186363119	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6836905	186363119	62887502	34	2798										
ASPM	259266	hgsc.bcm.edu	37	chr1	197070312	197070312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actgaattagtgtggcagccCggtgcatattttgaatatcc	10	8	0	2	rs191126815		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:197070312C>T	ENST00000367409.4	-	18	8325	c.8069G>A	c.(8068-8070)cGg>cAg	p.R2690Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2690	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 30. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGGCAGCCCGGTGCATATT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		17870	0.001		0.0	False		,,,				2504	0.0				p.R2690Q		Atlas-SNP	.											ASPM,NS,carcinoma,+1,1	ASPM	444	1	0			c.G8069A						scavenged	.						52	51	51					1																	197070312		2203	4299	6502	SO:0001583	missense	259266	exon18			GCAGCCCGGTGCA	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8069G>A	1.37:g.197070312C>T	ENSP00000356379:p.Arg2690Gln	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	219	3	0.0136986	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.716	0.913259	0.17907	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.29917	1.55	5.34	-3.57	0.04612	.	0.856444	0.10014	N	0.726871	T	0.27524	0.0676	N	0.21324	0.655	0.58432	D	0.999998	D;B	0.71674	0.998;0.024	D;B	0.70016	0.967;0.019	T	0.55224	-0.8174	10	0.12430	T	0.62	.	3.386	0.07272	0.3348:0.3678:0.0645:0.233	.	676;2690	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Q	2690;676	ENSP00000356379:R2690Q	ENSP00000356376:R676Q	R	-	2	0	ASPM	195336935	0.013000	0.17824	0.930000	0.37139	0.492000	0.33523	0.351000	0.20096	-0.213000	0.10094	-0.402000	0.06365	CGG	C|1.000;T|0.000	0.000	strong		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197070312	C	T	197070312	3	4	12	1	0	0	0	0	1	0	0	0	1056	652	23	1	2408	1	ASPM	1	197070312	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	10707193	197070312	52180309	35	2799										
NAV1	89796	hgsc.bcm.edu	37	chr1	201779198	201779198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccccgagatgcctccttgccGtcgaggtgtcaataacatat	9	13	1	1	rs201416032		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:201779198G>A	ENST00000367296.4	+	23	4946	c.4526G>A	c.(4525-4527)cGt>cAt	p.R1509H	NAV1_ENST00000367297.4_Missense_Mutation_p.R1501H|NAV1_ENST00000367300.3_Missense_Mutation_p.R1449H|IPO9-AS1_ENST00000413035.1_RNA|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R1462H|NAV1_ENST00000367295.1_Missense_Mutation_p.R1115H|NAV1_ENST00000295624.6_Missense_Mutation_p.R1506H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1509					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCCTTGCCGTCGAGGTGTC	0.532																																					p.R1509H		Atlas-SNP	.											NAV1,right_upper_lobe,carcinoma,0,2	NAV1	143	2	0			c.G4526A						PASS	.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	150	114	126		3344,4526	5.4	1	1		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NAV1	NM_001167738.1,NM_020443.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1115/1484,1509/1878	201779198	1,13005	2203	4300	6503	SO:0001583	missense	89796	exon23			CTTGCCGTCGAGG	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4526G>A	1.37:g.201779198G>A	ENSP00000356265:p.Arg1509His	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	164	10	0.0609756	NM_020443	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940056	0.73557	0.0	1.16E-4	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.07444	3.2;3.19;3.19;3.19;3.2;3.19	5.38	5.38	0.77491	.	0.252855	0.38897	N	0.001527	T	0.09291	0.0229	L	0.43152	1.355	0.40705	D	0.982517	P;P	0.42248	0.774;0.774	B;B	0.33454	0.096;0.164	T	0.09037	-1.0693	10	0.52906	T	0.07	-14.844	18.7379	0.91763	0.0:0.0:1.0:0.0	.	1115;1506	Q8NEY1-5;Q8NEY1-3	.;.	H	1462;1509;1506;1501;1449;1115	ENSP00000356271:R1462H;ENSP00000356265:R1509H;ENSP00000295624:R1506H;ENSP00000356266:R1501H;ENSP00000356269:R1449H;ENSP00000356264:R1115H	ENSP00000295624:R1506H	R	+	2	0	NAV1	200045821	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.197000	0.58413	2.498000	0.84270	0.561000	0.74099	CGT	G|0.999;A|0.001	0.001	weak		0.532	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201779198	G	A	201779198	3	1	12	1	0	0	0	0	1	0	0	0	10183	1145	40	1	4673	1	NAV1	1	201779198	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4708886	201779198	47471423	36	2800										
LEFTY2	7044	hgsc.bcm.edu	37	chr1	226127479	226127479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gagtcgatgagggaggtgcgGttggagccgtcgtcgcggac	20	8	0	1	rs188858500	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:226127479G>A	ENST00000366820.5	-	2	822	c.474C>T	c.(472-474)aaC>aaT	p.N158N	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.N124N	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	158					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGAGGTGCGGTTGGAGCCGT	0.776													G|||	32	0.00638978	0.0	0.0014	5008	,	,		12140	0.0298		0.0	False		,,,				2504	0.001				p.N158N	Colon(172;116 2643 9098 43333)	Atlas-SNP	.											.	LEFTY2	25	.	0			c.C474T						PASS	.						3	5	4					1																	226127479		1604	3499	5103	SO:0001819	synonymous_variant	7044	exon2			GGTGCGGTTGGAG	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.474C>T	1.37:g.226127479G>A		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	14	12	0.857143	NM_003240	B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	CCDS1549.1																																																																																			G|0.990;A|0.010	0.010	strong		0.776	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		A	226127479	G	A	226127479	2	1	12	1	0	0	0	0	0	0	0	1	8716	1252	44	2		2	LEFTY2	1	226127479	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	24348281	226127479	23123142	37	2801										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228522538	228522538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgcatgagcagctggtgccGccccgaatgctggagaggtt	16	10	0	2	rs373968488		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:228522538G>A	ENST00000422127.1	+	61	16154	c.16110G>A	c.(16108-16110)ccG>ccA	p.P5370P	OBSCN_ENST00000570156.2_Silent_p.P6327P|OBSCN_ENST00000366709.4_Silent_p.P2489P|OBSCN_ENST00000366707.4_Silent_p.P3004P|OBSCN_ENST00000284548.11_Silent_p.P5370P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5370					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)				AGCTGGTGCCGCCCCGAATGC	0.617																																					p.P6327P		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G18981A						PASS	.	G	,	0,4092		0,0,2046	25	31	29		16110,16110	-6.5	1	1		29	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	,	5370/7969,5370/6621	228522538	1,12401	2046	4155	6201	SO:0001819	synonymous_variant	84033	exon72			GGTGCCGCCCCGA	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.16110G>A	1.37:g.228522538G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	42	32	0.761905	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.	.	none		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228522538	G	A	228522538	2	1	12	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228522538	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2395059	228522538	20728083	38	2802										
RYR2	6262	hgsc.bcm.edu	37	chr1	237777420	237777420	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctccggctctactcagccgtCtgtgctcttgggaaccaccg	10	16	4	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:237777420C>T	ENST00000366574.2	+	37	5309	c.4992C>T	c.(4990-4992)gtC>gtT	p.V1664V	RYR2_ENST00000360064.6_Silent_p.V1662V|RYR2_ENST00000542537.1_Silent_p.V1648V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCAGCCGTCTGTGCTCTTG	0.517																																					p.V1664V		Atlas-SNP	.											RYR2,NS,carcinoma,+2,1	RYR2	1273	1	0			c.C4992T						scavenged	.						64	65	65					1																	237777420		2027	4197	6224	SO:0001819	synonymous_variant	6262	exon37			AGCCGTCTGTGCT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4992C>T	1.37:g.237777420C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.	.	none		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237777420	C	T	237777420	2	4	12	1	0	0	0	0	0	0	0	1	13769	900	32	2		2	RYR2	1	237777420	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9254882	237777420	11473201	39	2803										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247014689	247014689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gatataactcattaaatgaaAgattcctagcctcttctcct	4	10	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:247014689A>G	ENST00000391829.2	-	33	4742	c.4619T>C	c.(4618-4620)cTt>cCt	p.L1540P	AHCTF1_ENST00000366508.1_Missense_Mutation_p.L1575P|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L1549P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1540	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTAAATGAAAGATTCCTAGC	0.328																																					p.L1549P	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											AHCTF1,NS,carcinoma,-1,2	AHCTF1	187	2	0			c.T4646C						scavenged	.						29	30	30					1																	247014689		2200	4296	6496	SO:0001583	missense	25909	exon33			AATGAAAGATTCC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4619T>C	1.37:g.247014689A>G	ENSP00000375705:p.Leu1540Pro	Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	272	6	0.0220588	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	A	11.66	1.704201	0.30232	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35973	1.28;1.29;1.29	6.17	2.54	0.30619	.	0.483231	0.21226	N	0.078066	T	0.32102	0.0818	M	0.66939	2.045	0.33733	D	0.618492	B;B;B	0.24368	0.102;0.058;0.034	B;B;B	0.25759	0.063;0.022;0.01	T	0.29274	-1.0017	10	0.30078	T	0.28	-2.4389	5.8391	0.18623	0.595:0.2614:0.1436:0.0	.	401;1575;1540	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	P	1575;1549;1540	ENSP00000355464:L1575P;ENSP00000355465:L1549P;ENSP00000375705:L1540P	ENSP00000355465:L1549P	L	-	2	0	AHCTF1	245081312	0.993000	0.37304	0.275000	0.24674	0.648000	0.38561	2.576000	0.46033	0.178000	0.19917	0.533000	0.62120	CTT	.	.	none		0.328	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247014689	A	G	247014689	3	3	12	1	0	0	0	0	1	0	0	0	408	72	3	3	2197	3	AHCTF1	1	247014689	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	9237269	247014689	2235932	40	2804										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616764	248616764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgtctcctacacgcacatCctcctgactgtccacaggat	6	16	2	1	rs376553658		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																					p.I222I		Atlas-SNP	.											OR2T2,NS,carcinoma,0,1	OR2T2	73	1	0			c.C666T						scavenged	.						182	125	144					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	401992	exon1			GCACATCCTCCTG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T		Somatic	475	14	0.0294737		WXS	Illumina HiSeq	Phase_I	569	22	0.0386643	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			C|0.500;T|0.500	0.500	strong		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616764	C	T	248616764	2	4	12	1	0	0	0	0	0	0	0	1	11020	845	30	2		2	OR2T2	1	248616764	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1602075	248616764	633857	41	2805										
PSME4	23198	hgsc.bcm.edu	37	chr2	54135501	54135501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	taagttgaagcttttccatcGggagtcaaattcatgcttgt	9	7	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:54135501G>A	ENST00000404125.1	-	24	2795	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PSME4_ENST00000421748.2_Nonsense_Mutation_p.R58*	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	914					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTTCCATCGGGAGTCAAAT	0.338																																					p.R914X		Atlas-SNP	.											PSME4,rectum,carcinoma,+1,1	PSME4	247	1	0			c.C2740T						PASS	.						55	55	55					2																	54135501		2203	4298	6501	SO:0001587	stop_gained	23198	exon24			TCCATCGGGAGTC	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2740C>T	2.37:g.54135501G>A	ENSP00000384211:p.Arg914*	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	57	43	0.754386	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Nonsense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600660	0.87055	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.9841	0.64324	0.0:0.0:0.8484:0.1515	.	.	.	.	X	58;914	.	ENSP00000384211:R914X	R	-	1	2	PSME4	53989005	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	3.927000	0.56499	2.486000	0.83907	0.655000	0.94253	CGA	.	.	none		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54135501	G	A	54135501	4	1	12	1	0	0	0	0	0	1	0	0	12709	1124	39	1	2883	1	PSME4	2	54135501	Nonsense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		54135501	189063872	42	2806										
SLC1A4	6509	hgsc.bcm.edu	37	chr2	65245351	65245351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgtggccgcggtgttcattgCgcaactcaacaacgtagagc	12	11	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:65245351C>T	ENST00000234256.3	+	6	1424	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	SLC1A4_ENST00000531327.1_Missense_Mutation_p.A96V	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	394					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GTGTTCATTGCGCAACTCAAC	0.507																																					p.A394V		Atlas-SNP	.											SLC1A4,NS,carcinoma,-1,1	SLC1A4	33	1	0			c.C1181T						scavenged	.						140	129	133					2																	65245351		2203	4300	6503	SO:0001583	missense	6509	exon6			TCATTGCGCAACT		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1181C>T	2.37:g.65245351C>T	ENSP00000234256:p.Ala394Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	339	4	0.0117994	NM_003038	B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819938	0.90873	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.66460	-0.21;-0.21	6.17	6.17	0.99709	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87289	0.6140	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.971;1.0	D	0.88502	0.3083	9	.	.	.	-17.0195	20.8794	0.99867	0.0:1.0:0.0:0.0	.	394;96;394	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	V	96;314;394	ENSP00000431942:A96V;ENSP00000234256:A394V	.	A	+	2	0	SLC1A4	65098855	1.000000	0.71417	0.997000	0.53966	0.229000	0.25112	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCG	.	.	none		0.507	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		T	65245351	C	T	65245351	3	4	12	1	0	0	0	0	1	0	0	0	14434	768	27	1	1203	1	SLC1A4	2	65245351	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	11109850	65245351	177954022	43	2807										
SFXN5	94097	hgsc.bcm.edu	37	chr2	73215387	73215387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgtggtgtgcaggtcttacCtacagcagggaacggcacaa	13	9	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:73215387C>T	ENST00000272433.2	-	10	755	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Splice_Site_p.G209R	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	209					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGTCTTACCTACAGCAGGG	0.572																																					p.A209T		Atlas-SNP	.											.	SFXN5	31	.	0			c.G625A						PASS	.						107	92	97					2																	73215387		2203	4300	6503	SO:0001630	splice_region_variant	94097	exon10			TCTTACCTACAGC	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.625+1G>A	2.37:g.73215387C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_144579	A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	CCDS1922.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.7|27.7|27.7	4.856674|4.856674|4.856674	0.91433|0.91433|0.91433	.|.|.	.|.|.	ENSG00000144040|ENSG00000144040|ENSG00000144040	ENST00000272433|ENST00000410065|ENST00000411783	T|T|.	0.36157|0.30714|.	1.27|1.52|.	5.39|5.39|5.39	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.66973|0.66973|0.66973	0.2844|0.2844|0.2844	M|M|M	0.82193|0.82193|0.82193	2.58|2.58|2.58	0.30785|0.30785|0.30785	N|N|N	0.741602|0.741602|0.741602	D|P|.	0.55605|0.42584|.	0.972|0.784|.	P|B|.	0.55303|0.42522|.	0.773|0.39|.	T|T|T	0.69262|0.69262|0.69262	-0.5191|-0.5191|-0.5191	9|8|5	.|.|.	.|.|.	.|.|.	-17.7252|-17.7252|-17.7252	11.478|11.478|11.478	0.50310|0.50310|0.50310	0.0:0.9128:0.0:0.0872|0.0:0.9128:0.0:0.0872|0.0:0.9128:0.0:0.0872	.|.|.	209|209|.	Q8TD22|B8ZZJ6|.	SFXN5_HUMAN|.|.	T|R|K	209|209|198	ENSP00000272433:A209T|ENSP00000387076:G209R|.	.|.|.	A|G|R	-|-|-	1|1|2	0|0|0	SFXN5|SFXN5|SFXN5	73068895|73068895|73068895	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	4.673000|4.673000|4.673000	0.61604|0.61604|0.61604	2.699000|2.699000|2.699000	0.92147|0.92147|0.92147	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCC|GGA|AGG	.	.	none		0.572	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579	Missense_Mutation	T	73215387	C	T	73215387	5	4	12	1	0	0	0	0	0	0	1	0	14198	695	24	2	417	2	SFXN5	2	73215387	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7970036	73215387	169983986	44	2808										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73680673	73680673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaaggatattggcacacagaCgaatttgaaatgccggagag	13	6	0	3	rs577661314		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:73680673C>T	ENST00000264448.6	+	8	7127	c.7016C>T	c.(7015-7017)aCg>aTg	p.T2339M	ALMS1_ENST00000377715.1_Missense_Mutation_p.T2339M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2297M	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2339					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCACACAGACGAATTTGAAA	0.448																																					p.T2339M		Atlas-SNP	.											ALMS1,colon,carcinoma,-1,1	ALMS1	384	1	0			c.C7016T						scavenged	.						57	54	55					2																	73680673		1876	4118	5994	SO:0001583	missense	7840	exon8			CACAGACGAATTT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7016C>T	2.37:g.73680673C>T	ENSP00000264448:p.Thr2339Met	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291926	0.59976	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18016	3.16;3.16;2.24	5.92	3.85	0.44370	.	0.124039	0.37393	N	0.002118	T	0.31670	0.0804	L	0.54323	1.7	0.26106	N	0.980759	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.988	T	0.02581	-1.1138	10	0.87932	D	0	.	7.903	0.29746	0.2462:0.6009:0.1529:0.0	.	2339;2297;2339	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	M	2297;2339;2339	ENSP00000386627:T2297M;ENSP00000264448:T2339M;ENSP00000366944:T2339M	ENSP00000264448:T2339M	T	+	2	0	ALMS1	73534181	0.714000	0.27936	0.954000	0.39281	0.973000	0.67179	2.153000	0.42282	2.809000	0.96659	0.655000	0.94253	ACG	.	.	none		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73680673	C	T	73680673	3	4	12	1	0	0	0	0	1	0	0	0	535	536	19	1	7046	1	ALMS1	2	73680673	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	465286	73680673	169518700	45	2809										
CD8B	926	hgsc.bcm.edu	37	chr2	87085302	87085302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaatgaaccggcttgcatccCgaaacacagctatcttctcc	7	14	2	1	rs201066720		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:87085302C>G	ENST00000390655.6	-	2	339	c.281G>C	c.(280-282)cGg>cCg	p.R94P	CD8B_ENST00000393761.2_Missense_Mutation_p.R94P|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.R94P|CD8B_ENST00000393759.2_Missense_Mutation_p.R94P|CD8B_ENST00000331469.2_Missense_Mutation_p.R94P	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	94	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCTTGCATCCCGAAACACAGC	0.562																																					p.R94P		Atlas-SNP	.											CD8B,colon,carcinoma,-1,1	CD8B	37	1	0			c.G281C						scavenged	.						109	98	102					2																	87085302		2203	4298	6501	SO:0001583	missense	926	exon2			GCATCCCGAAACA		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.281G>C	2.37:g.87085302C>G	ENSP00000375070:p.Arg94Pro	Somatic	317	12	0.0378549		WXS	Illumina HiSeq	Phase_I	480	17	0.0354167	NM_004931	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	CCDS1997.1	172	0.07875457875457875	33	0.06707317073170732	24	0.06629834254143646	56	0.0979020979020979	59	0.07783641160949868	C	10.13	1.265637	0.23136	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.35	-7.3	0.01446	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.173270	0.01667	N	0.025437	T	0.01320	0.0043	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.23591	0.045;0.088;0.016;0.014;0.017;0.072	B;B;B;B;B;B	0.23574	0.047;0.025;0.027;0.008;0.012;0.015	T	0.03695	-1.1012	10	0.44086	T	0.13	3.5479	1.7502	0.02970	0.1128:0.2394:0.2248:0.423	.	94;94;94;94;94;94	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	P	94	ENSP00000377358:R94P;ENSP00000377356:R94P;ENSP00000340592:R94P;ENSP00000331172:R94P;ENSP00000375070:R94P	ENSP00000331172:R94P	R	-	2	0	CD8B	86938813	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-1.356000	0.02609	-1.551000	0.01706	0.555000	0.69702	CGG	C|0.921;G|0.079	0.079	strong		0.562	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87085302	C	G	87085302	3	3	12	1	0	0	0	0	1	0	0	0	3045	652	23	4	645	4	CD8B	2	87085302	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	13404629	87085302	156114071	46	2810										
ITPRIPL1	150771	hgsc.bcm.edu	37	chr2	96993026	96993026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttggaagactgcctgggcatCggggctgcctttgagaaatg	15	8	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:96993026C>T	ENST00000439118.2	+	3	908	c.657C>T	c.(655-657)atC>atT	p.I219I	ITPRIPL1_ENST00000542887.1_Silent_p.I211I|ITPRIPL1_ENST00000536814.1_Silent_p.I211I|ITPRIPL1_ENST00000361124.4_Silent_p.I227I	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	219						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTGGGCATCGGGGCTGCCT	0.552																																					p.I227I		Atlas-SNP	.											ITPRIPL1,NS,carcinoma,0,1	ITPRIPL1	58	1	0			c.C681T						scavenged	.						55	57	56					2																	96993026		2203	4300	6503	SO:0001819	synonymous_variant	150771	exon1			GGGCATCGGGGCT		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.657C>T	2.37:g.96993026C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	75	2	0.0266667	NM_178495	F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	4.994	0.184541	0.09495	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.17	-9.56	0.00566	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54490	-0.8286	4	.	.	.	-4.0449	7.9069	0.29767	0.0824:0.1319:0.0773:0.7084	.	.	.	.	L	251	.	.	S	+	2	0	ITPRIPL1	96356753	0.004000	0.15560	0.634000	0.29324	0.992000	0.81027	-2.016000	0.01446	-1.643000	0.01519	-0.136000	0.14681	TCG	.	.	none		0.552	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		T	96993026	C	T	96993026	2	4	12	1	0	0	0	0	0	0	0	1	7924	874	31	1		1	ITPRIPL1	2	96993026	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9907724	96993026	146206347	47	2811										
POTEF	728378	hgsc.bcm.edu	37	chr2	130872529	130872529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttatcttcattatagatagcGtagtgcagagtggtatttcc	9	6	2	2	rs556671650	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:130872529G>A	ENST00000409914.2	-	5	1134	c.735C>T	c.(733-735)taC>taT	p.Y245Y	POTEF_ENST00000361163.4_Silent_p.Y255Y|POTEF_ENST00000360967.5_Silent_p.Y245Y|POTEF_ENST00000357462.5_Silent_p.Y245Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	245					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TATAGATAGCGTAGTGCAGAG	0.383													.|||	220	0.0439297	0.0151	0.0504	5008	,	,		20686	0.1121		0.0338	False		,,,				2504	0.0184				p.Y245Y		Atlas-SNP	.											POTEF,NS,carcinoma,0,2	POTEF	140	2	0			c.C735T						scavenged	.																																			SO:0001819	synonymous_variant	728378	exon5			GATAGCGTAGTGC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.735C>T	2.37:g.130872529G>A		Somatic	1281	2	0.00156128		WXS	Illumina HiSeq	Phase_I	816	2	0.00245098	NM_001099771	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																			.	.	none		0.383	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130872529	G	A	130872529	2	1	12	1	0	0	0	0	0	0	0	1	12265	1140	40	1		1	POTEF	2	130872529	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	33879503	130872529	112326844	48	2812										
SCN1A	6323	hgsc.bcm.edu	37	chr2	166930113	166930113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctgtcaggtcctggtggtaCaagcactgtttgctccatct	11	11	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:166930113C>A	ENST00000303395.4	-	1	18	c.19G>T	c.(19-21)Gta>Tta	p.V7L	SCN1A_ENST00000375405.3_Missense_Mutation_p.V7L|SCN1A_ENST00000409050.1_Missense_Mutation_p.V7L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V7L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	7					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)	p.V7L(1)		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)	CCTGGTGGTACAAGCACTGTT	0.383																																					p.V7L		Atlas-SNP	.											SCN1A,NS,carcinoma,0,1	SCN1A	641	1	1	Substitution - Missense(1)	prostate(1)	c.G19T						scavenged	.						138	130	133					2																	166930113		2203	4300	6503	SO:0001583	missense	6323	exon1			GTGGTACAAGCAC	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.19G>T	2.37:g.166930113C>A	ENSP00000303540:p.Val7Leu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	154	2	0.012987	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632999	0.47049	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95949	-3.86;-3.86;-3.81;-3.79	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000046	D	0.93933	0.8058	L	0.47016	1.485	0.40125	D	0.976641	B	0.24426	0.103	B	0.32342	0.144	D	0.90544	0.4504	10	0.22109	T	0.4	.	19.3504	0.94381	0.0:1.0:0.0:0.0	.	7	P35498-2	.	L	7	ENSP00000407030:V7L;ENSP00000303540:V7L;ENSP00000364554:V7L;ENSP00000386312:V7L	ENSP00000303540:V7L	V	-	1	0	SCN1A	166638359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.130000	0.50508	2.885000	0.99019	0.655000	0.94253	GTA	.	.	none		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166930113	C	A	166930113	3	1	12	1	0	0	0	0	1	0	0	0	13914	478	17	4	6114	4	SCN1A	2	166930113	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	36057584	166930113	76269260	49	2813										
PRKRA	8575	hgsc.bcm.edu	37	chr2	179306336	179306336	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atagctgtcaacattactcaCtaaagaaatgtggttctctg	7	8	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:179306336C>T	ENST00000325748.4	-	6	810		c.e6+1		AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACATTACTCACTAAAGAAATG	0.353																																					.	Melanoma(200;68 3001 23825 48764)	Atlas-SNP	.											PRKRA,NS,carcinoma,0,1	PRKRA	56	1	1	Unknown(1)	lung(1)	c.534+1G>A						scavenged	.						70	74	73					2																	179306336		2203	4300	6503	SO:0001630	splice_region_variant	8575	exon7			TACTCACTAAAGA	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.609+1G>A	2.37:g.179306336C>T		Somatic	280	3	0.0107143		WXS	Illumina HiSeq	Phase_I	268	5	0.0186567	NM_001139518	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689950	0.68271	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5111	0.44862	0.0:0.9114:0.0:0.0886	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179014582	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.492000	0.60334	2.618000	0.88619	0.591000	0.81541	.	.	.	none		0.353	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	Intron	T	179306336	C	T	179306336	5	4	12	1	0	0	0	0	0	0	1	0	12524	579	20	2	343	2	PRKRA	2	179306336	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12376223	179306336	63893037	50	2814										
UBE2E3	10477	hgsc.bcm.edu	37	chr2	181927517	181927517	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgttctttctgcttttccaGcggatcctctggttggaagc	10	10	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:181927517G>T	ENST00000410062.4	+	6	919		c.e6-1		UBE2E3_ENST00000392415.2_Splice_Site|UBE2E3_ENST00000602837.1_Splice_Site|UBE2E3_ENST00000602959.1_Splice_Site|UBE2E3_ENST00000602710.1_Splice_Site	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3						protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						TGCTTTTCCAGCGGATCCTCT	0.378																																					.		Atlas-SNP	.											UBE2E3,NS,carcinoma,-2,1	UBE2E3	26	1	0			c.527-1G>T						scavenged	.						72	65	67					2																	181927517		2202	4299	6501	SO:0001630	splice_region_variant	10477	exon7			TTTCCAGCGGATC	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.527-1G>T	2.37:g.181927517G>T		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	266	5	0.018797	NM_182678	B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Splice_Site	SNP	ENST00000410062.4	37	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086757	0.76642	.	.	ENSG00000170035	ENST00000410114;ENST00000392415;ENST00000410062;ENST00000409247	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1521	0.93493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2E3	181635762	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.637000	0.98443	2.529000	0.85273	0.460000	0.39030	.	.	.	none		0.378	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357	Intron	T	181927517	G	T	181927517	5	4	12	1	0	0	0	0	0	0	1	0	16851	985	34	4	544	4	UBE2E3	2	181927517	Splice_Site	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2621181	181927517	61271856	51	2815										
SF3B1	23451	hgsc.bcm.edu	37	chr2	198260985	198260985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aatagctattgctacagtggTacaaactctgttctgccttt	7	9	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:198260985T>C	ENST00000335508.6	-	23	3425	c.3334A>G	c.(3334-3336)Acc>Gcc	p.T1112A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1112					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCTACAGTGGTACAAACTCTG	0.393			Mis		myelodysplastic syndrome																																p.T1112A		Atlas-SNP	.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	SF3B1,NS,malignant_melanoma,+2,2	SF3B1	1038	2	0			c.A3334G						scavenged	.						129	122	125					2																	198260985		2203	4300	6503	SO:0001583	missense	23451	exon23			CAGTGGTACAAAC	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3334A>G	2.37:g.198260985T>C	ENSP00000335321:p.Thr1112Ala	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	173	3	0.017341	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	32	5.129520	0.94473	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	H	0.94620	3.56	0.80722	D	1	D	0.56968	0.978	D	0.63192	0.912	D	0.89846	0.4006	9	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	1112	O75533	SF3B1_HUMAN	A	1112	.	ENSP00000335321:T1112A	T	-	1	0	SF3B1	197969230	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.963000	0.87922	2.281000	0.76405	0.533000	0.62120	ACC	.	.	none		0.393	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198260985	T	C	198260985	3	2	12	1	0	0	0	0	1	0	0	0	14149	1638	57	2	592	2	SF3B1	2	198260985	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	16333468	198260985	44938388	52	2816										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	291	3	0.0103093		WXS	Illumina HiSeq	Phase_I	263	7	0.026616	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	12	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	102549	198363534	44835839	53	2817										
AOX1	316	hgsc.bcm.edu	37	chr2	201457926	201457926	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgccttatttgaggaagaagCgtatccttttctttactttg	8	7	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:201457926C>T	ENST00000374700.2	+	2	344	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	35	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L35F(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGGAAGAAGCGTATCCTTTT	0.328																																					p.L35F		Atlas-SNP	.											AOX1,caecum,carcinoma,0,1	AOX1	152	1	1	Substitution - Missense(1)	large_intestine(1)	c.C103T						scavenged	.						282	239	253					2																	201457926		2203	4300	6503	SO:0001630	splice_region_variant	316	exon2			AAGAAGCGTATCC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.103+1C>T	2.37:g.201457926C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	237	4	0.0168776	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881333	0.51801	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.58940	1.45;0.3	5.22	3.43	0.39272	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.156801	0.42821	N	0.000651	T	0.58424	0.2121	M	0.76727	2.345	0.54753	D	0.999981	B	0.25772	0.134	B	0.30782	0.12	T	0.60188	-0.7312	10	0.87932	D	0	-5.2863	10.7283	0.46081	0.0:0.8429:0.0:0.1571	.	35	Q06278	ADO_HUMAN	F	35;10	ENSP00000363832:L35F;ENSP00000392485:L10F	ENSP00000363832:L35F	L	+	1	0	AOX1	201166171	0.865000	0.29922	0.456000	0.27044	0.987000	0.75469	1.034000	0.30204	0.776000	0.33473	0.591000	0.81541	CTT	.	.	none		0.328	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	T	201457926	C	T	201457926	5	4	12	1	0	0	0	0	0	0	1	0	729	782	27	1	109	1	AOX1	2	201457926	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3094392	201457926	41741447	54	2818										
RAPH1	65059	hgsc.bcm.edu	37	chr2	204304225	204304225	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agcaggagggggtcctctccGcaacgttgcatagcctgata	13	11	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:204304225G>T	ENST00000319170.5	-	14	3987	c.3688C>A	c.(3688-3690)Cgg>Agg	p.R1230R	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.R1282R|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1230					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTCCTCTCCGCAACGTTGCA	0.507																																					p.R1230R		Atlas-SNP	.											.	RAPH1	118	.	0			c.C3688A						PASS	.						85	81	83					2																	204304225		2203	4300	6503	SO:0001819	synonymous_variant	65059	exon14			CTCTCCGCAACGT	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3688C>A	2.37:g.204304225G>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_213589	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																			.	.	none		0.507	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204304225	G	T	204304225	2	4	12	1	0	0	0	0	0	0	0	1	13050	1086	38	4		4	RAPH1	2	204304225	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2846299	204304225	38895148	55	2819										
ABCA12	26154	hgsc.bcm.edu	37	chr2	215843661	215843661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaggaagtacataaacaagcTctcccccaatatcctccttg	6	13	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:215843661T>C	ENST00000272895.7	-	32	5063	c.4844A>G	c.(4843-4845)gAg>gGg	p.E1615G	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1297G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1615					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATAAACAAGCTCTCCCCCAAT	0.507																																					p.E1615G	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											ABCA12,NS,carcinoma,+1,1	ABCA12	368	1	0			c.A4844G						scavenged	.						162	142	149					2																	215843661		2203	4300	6503	SO:0001583	missense	26154	exon32			ACAAGCTCTCCCC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4844A>G	2.37:g.215843661T>C	ENSP00000272895:p.Glu1615Gly	Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	264	6	0.0227273	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774079	0.90108	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89485	-2.52;-2.52	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.94391	0.8196	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.962;0.987	D	0.95106	0.8234	10	0.87932	D	0	.	15.6478	0.77068	0.0:0.0:0.0:1.0	.	1615;1297	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	1615;1297	ENSP00000272895:E1615G;ENSP00000374312:E1297G	ENSP00000272895:E1615G	E	-	2	0	ABCA12	215551906	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.997000	0.88414	2.156000	0.67533	0.533000	0.62120	GAG	.	.	none		0.507	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215843661	T	C	215843661	3	2	12	1	0	0	0	0	1	0	0	0	30	1551	54	3	3031	3	ABCA12	2	215843661	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	11539436	215843661	27355712	56	2820										
TMEM169	92691	hgsc.bcm.edu	37	chr2	216965057	216965057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttcttccctcggcctctacgCtgctgtggtccagctctcgt	9	16	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:216965057C>T	ENST00000295658.4	+	3	893	c.686C>T	c.(685-687)gCt>gTt	p.A229V	TMEM169_ENST00000406027.2_Missense_Mutation_p.A229V|TMEM169_ENST00000454545.1_Missense_Mutation_p.A229V|TMEM169_ENST00000437356.2_Missense_Mutation_p.A229V	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	229						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCTACGCTGCTGTGGTC	0.582																																					p.A229V		Atlas-SNP	.											TMEM169,NS,carcinoma,+1,1	TMEM169	46	1	0			c.C686T						scavenged	.						231	183	200					2																	216965057		2203	4300	6503	SO:0001583	missense	92691	exon4			TCTACGCTGCTGT	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.686C>T	2.37:g.216965057C>T	ENSP00000295658:p.Ala229Val	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	259	3	0.011583	NM_001142310	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839156	0.71373	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.167251	0.53938	D	0.000044	T	0.55940	0.1952	L	0.58101	1.795	0.45822	D	0.998698	P	0.42296	0.775	B	0.39660	0.306	T	0.57877	-0.7735	8	.	.	.	-15.1008	17.308	0.87200	0.0:1.0:0.0:0.0	.	229	Q96HH4	TM169_HUMAN	V	229	.	.	A	+	2	0	TMEM169	216673302	1.000000	0.71417	0.984000	0.44739	0.556000	0.35491	7.635000	0.83286	2.550000	0.86006	0.655000	0.94253	GCT	.	.	none		0.582	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		T	216965057	C	T	216965057	3	4	12	1	0	0	0	0	1	0	0	0	16081	797	28	2	692	2	TMEM169	2	216965057	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1121396	216965057	26234316	57	2821										
TMEM198	130612	hgsc.bcm.edu	37	chr2	220413913	220413913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccgacgcgtgcaactgatgcGgattcggcagcaggaagatc	14	11	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:220413913G>A	ENST00000344458.2	+	5	1367	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	TMEM198_ENST00000373883.3_Missense_Mutation_p.R261Q|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	261	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAACTGATGCGGATTCGGCAG	0.637																																					p.R261Q		Atlas-SNP	.											TMEM198,NS,carcinoma,+1,2	TMEM198	36	2	0			c.G782A						scavenged	.						91	98	95					2																	220413913		2203	4300	6503	SO:0001583	missense	130612	exon4			TGATGCGGATTCG	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.782G>A	2.37:g.220413913G>A	ENSP00000343507:p.Arg261Gln	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	215	3	0.0139535	NM_001005209		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194315	0.78902	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.53	4.53	0.55603	.	0.067851	0.56097	D	0.000021	T	0.36220	0.0959	L	0.38175	1.15	0.31278	N	0.690932	D	0.64830	0.994	P	0.45913	0.497	T	0.44267	-0.9339	9	0.48119	T	0.1	-24.8191	11.0316	0.47776	0.0869:0.0:0.9131:0.0	.	261	Q66K66	TM198_HUMAN	Q	261	.	ENSP00000343507:R261Q	R	+	2	0	TMEM198	220122157	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.593000	0.74100	2.521000	0.84997	0.561000	0.74099	CGG	.	.	none		0.637	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		A	220413913	G	A	220413913	3	1	12	1	0	0	0	0	1	0	0	0	16116	1116	39	1	792	1	TMEM198	2	220413913	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	3448856	220413913	22785460	58	2822										
ANO7	50636	hgsc.bcm.edu	37	chr2	242149776	242149776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccatcatggccatcgtggtgTccaggtcgggcaacaccctt	11	14	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr2:242149776T>C	ENST00000274979.8	+	14	1691	c.1588T>C	c.(1588-1590)Tcc>Ccc	p.S530P	ANO7_ENST00000402430.3_Missense_Mutation_p.S529P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	530					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CATCGTGGTGTCCAGGTCGGG	0.677																																					p.S530P		Atlas-SNP	.											ANO7,leg,malignant_melanoma,-2,2	ANO7	136	2	0			c.T1588C						scavenged	.						111	87	95					2																	242149776		2203	4300	6503	SO:0001583	missense	50636	exon14			GTGGTGTCCAGGT	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1588T>C	2.37:g.242149776T>C	ENSP00000274979:p.Ser530Pro	Somatic	159	3	0.0188679		WXS	Illumina HiSeq	Phase_I	191	4	0.0209424	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713452	0.48517	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64991	-0.13;-0.13	3.38	2.14	0.27477	.	1.041020	0.07546	N	0.914725	T	0.79299	0.4422	M	0.87381	2.88	0.28193	N	0.927667	D	0.69078	0.997	D	0.68621	0.959	T	0.61461	-0.7058	10	0.36615	T	0.2	.	8.4519	0.32875	0.0:0.0:0.198:0.802	.	530	Q6IWH7	ANO7_HUMAN	P	530;529	ENSP00000274979:S530P;ENSP00000385418:S529P	ENSP00000274979:S530P	S	+	1	0	ANO7	241798449	0.998000	0.40836	0.502000	0.27614	0.704000	0.40688	2.212000	0.42835	0.175000	0.19841	0.260000	0.18958	TCC	.	.	none		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		C	242149776	T	C	242149776	3	2	12	1	0	0	0	0	1	0	0	0	702	1667	58	2	1714	2	ANO7	2	242149776	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	21735863	242149776	1049597	59	2823										
XYLB	9942	hgsc.bcm.edu	37	chr3	38415956	38415956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcccctcccattctcagcgtCgctggcaggcatgagactgg	11	15	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:38415956C>T	ENST00000207870.3	+	11	941	c.851C>T	c.(850-852)tCg>tTg	p.S284L	XYLB_ENST00000542835.1_Missense_Mutation_p.S147L	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	284					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCTCAGCGTCGCTGGCAGGC	0.587																																					p.S284L		Atlas-SNP	.											XYLB,bladder,carcinoma,0,2	XYLB	50	2	0			c.C851T						scavenged	.						126	112	117					3																	38415956		2203	4300	6503	SO:0001583	missense	9942	exon11			CAGCGTCGCTGGC	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.851C>T	3.37:g.38415956C>T	ENSP00000207870:p.Ser284Leu	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	240	3	0.0125	NM_005108	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906612	0.92107	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.50277	0.75;0.75	5.63	5.63	0.86233	Carbohydrate kinase, FGGY, N-terminal (1);	0.118924	0.64402	D	0.000014	T	0.68007	0.2954	M	0.80746	2.51	0.54753	D	0.999983	D;D	0.58620	0.983;0.978	P;P	0.58820	0.846;0.745	T	0.71464	-0.4585	10	0.72032	D	0.01	.	17.5362	0.87832	0.0:1.0:0.0:0.0	.	147;284	B4DDT2;O75191	.;XYLB_HUMAN	L	284;147	ENSP00000207870:S284L;ENSP00000443659:S147L	ENSP00000207870:S284L	S	+	2	0	XYLB	38390960	1.000000	0.71417	0.675000	0.29917	0.964000	0.63967	6.444000	0.73452	2.815000	0.96918	0.561000	0.74099	TCG	.	.	none		0.587	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		T	38415956	C	T	38415956	3	4	12	1	0	0	0	0	1	0	0	0	17459	893	31	1	893	1	XYLB	3	38415956	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		38415956	159606474	60	2824										
EXOG	9941	hgsc.bcm.edu	37	chr3	38537954	38537954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgggcgctgcgggagctggGctcgcggccctgcagttctt	18	12	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:38537954G>A	ENST00000287675.5	+	1	192	c.96G>A	c.(94-96)ggG>ggA	p.G32G	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Silent_p.G32G	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	32					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CGGGAGCTGGGCTCGCGGCCC	0.657											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G32G		Atlas-SNP	.											.	EXOG	29	.	0			c.G96A						PASS	.						45	46	45					3																	38537954		2203	4300	6503	SO:0001819	synonymous_variant	9941	exon1			AGCTGGGCTCGCG	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.96G>A	3.37:g.38537954G>A		Somatic	61	0	0	879	WXS	Illumina HiSeq	Phase_I	98	50	0.510204	NM_005107	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Silent	SNP	ENST00000287675.5	37	CCDS2680.1																																																																																			.	.	none		0.657	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		A	38537954	G	A	38537954	2	1	12	1	0	0	0	0	0	0	0	1	5312	1190	42	2		2	EXOG	3	38537954	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	121998	38537954	159484476	61	2825										
SCN10A	6336	hgsc.bcm.edu	37	chr3	38739806	38739806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aacatgtcgtcgatgccagcCtcccacctcacatggggaaa	9	14	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:38739806C>T	ENST00000449082.2	-	27	4904	c.4905G>A	c.(4903-4905)gaG>gaA	p.E1635E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1635					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGATGCCAGCCTCCCACCTCA	0.557																																					p.E1635E		Atlas-SNP	.											SCN10A,bladder,carcinoma,-1,1	SCN10A	359	1	0			c.G4905A						scavenged	.						178	165	170					3																	38739806		2203	4300	6503	SO:0001819	synonymous_variant	6336	exon27			GCCAGCCTCCCAC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4905G>A	3.37:g.38739806C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	160	2	0.0125	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																			.	.	none		0.557	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38739806	C	T	38739806	2	4	12	1	0	0	0	0	0	0	0	1	13912	680	24	2		2	SCN10A	3	38739806	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	201852	38739806	159282624	62	2826										
ULK4	54986	hgsc.bcm.edu	37	chr3	41723017	41723017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actggggaagtaagacatctCgaatgagagccagaagattg	13	6	1	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:41723017C>T	ENST00000301831.4	-	29	3422	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	987					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R987Q(1)|p.R139Q(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TAAGACATCTCGAATGAGAGC	0.468																																					p.R987Q		Atlas-SNP	.											ULK4_ENST00000301831,colon,carcinoma,0,2	ULK4	150	2	2	Substitution - Missense(2)	large_intestine(2)	c.G2960A						scavenged	.						121	117	118					3																	41723017		1963	4142	6105	SO:0001583	missense	54986	exon29			ACATCTCGAATGA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2960G>A	3.37:g.41723017C>T	ENSP00000301831:p.Arg987Gln	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	161	4	0.0248447	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.286703	0.80803	.	.	ENSG00000168038	ENST00000301831	T	0.64260	-0.09	5.75	5.75	0.90469	Armadillo-type fold (1);	0.537072	0.15973	U	0.235657	T	0.72244	0.3436	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	P	0.56788	0.806	T	0.71922	-0.4446	10	0.56958	D	0.05	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	987	Q96C45	ULK4_HUMAN	Q	987	ENSP00000301831:R987Q	ENSP00000301831:R987Q	R	-	2	0	ULK4	41698021	1.000000	0.71417	0.778000	0.31720	0.942000	0.58702	2.826000	0.48104	2.716000	0.92895	0.655000	0.94253	CGA	.	.	none		0.468	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		T	41723017	C	T	41723017	3	4	12	1	0	0	0	0	1	0	0	0	16975	884	31	1	903	1	ULK4	3	41723017	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2983211	41723017	156299413	63	2827										
CCR1	1230	hgsc.bcm.edu	37	chr3	46245407	46245407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acacggcgtggacgatggccAggtacctgtcaatcgtcagc	13	12	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:46245407A>G	ENST00000296140.3	-	2	523	c.398T>C	c.(397-399)cTg>cCg	p.L133P	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	133					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GACGATGGCCAGGTACCTGTC	0.512																																					p.L133P		Atlas-SNP	.											CCR1,colon,carcinoma,0,1	CCR1	36	1	0			c.T398C						scavenged	.						84	80	81					3																	46245407		2203	4300	6503	SO:0001583	missense	1230	exon2			ATGGCCAGGTACC		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.398T>C	3.37:g.46245407A>G	ENSP00000296140:p.Leu133Pro	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_001295	Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868998	0.72065	.	.	ENSG00000163823	ENST00000296140	T	0.48201	0.82	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.81664	0.4870	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89542	0.3793	10	0.87932	D	0	.	14.7717	0.69684	1.0:0.0:0.0:0.0	.	133	P32246	CCR1_HUMAN	P	133	ENSP00000296140:L133P	ENSP00000296140:L133P	L	-	2	0	CCR1	46220411	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.433000	0.80362	1.955000	0.56771	0.533000	0.62120	CTG	.	.	none		0.512	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		G	46245407	A	G	46245407	3	3	12	1	0	0	0	0	1	0	0	0	2939	188	7	3	673	3	CCR1	3	46245407	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	4522390	46245407	151777023	64	2828										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52427469	52427469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttgccttcctgctgtgtgttCgcatcatgatgaacgagggc	12	10	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:52427469C>T	ENST00000420323.2	+	66	10855	c.10594C>T	c.(10594-10596)Cgc>Tgc	p.R3532C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3597					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3532C(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGTGTGTTCGCATCATGAT	0.567																																					p.R3532C		Atlas-SNP	.											DNAH1_ENST00000420323,NS,carcinoma,0,3	DNAH1	534	3	1	Substitution - Missense(1)	large_intestine(1)	c.C10594T						scavenged	.						92	95	94					3																	52427469		2121	4238	6359	SO:0001583	missense	25981	exon66			TGTGTTCGCATCA	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10594C>T	3.37:g.52427469C>T	ENSP00000401514:p.Arg3532Cys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724468	0.68959	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.59224	0.28	4.46	4.46	0.54185	.	0.100975	0.38111	N	0.001803	T	0.79493	0.4455	M	0.93283	3.4	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.897	D	0.84535	0.0635	10	0.66056	D	0.02	.	12.8533	0.57871	0.0:0.9188:0.0:0.0812	.	3532;3597	C9JXH6;Q9P2D7-2	.;.	C	3532;285	ENSP00000401514:R3532C	ENSP00000273600:R285C	R	+	1	0	DNAH1	52402509	0.601000	0.26907	1.000000	0.80357	0.975000	0.68041	1.198000	0.32223	2.324000	0.78689	0.563000	0.77884	CGC	.	.	none		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52427469	C	T	52427469	3	4	12	1	0	0	0	0	1	0	0	0	4597	884	31	1	10852	1	DNAH1	3	52427469	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6182062	52427469	145594961	65	2829										
WNT5A	7474	hgsc.bcm.edu	37	chr3	55508445	55508445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cttggcgtggatgcgctcccGctcgcgggcgtccacgaact	14	15	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:55508445G>A	ENST00000474267.1	-	5	1125	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	WNT5A_ENST00000497027.1_Missense_Mutation_p.R187W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R202W			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	202					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATGCGCTCCCGCTCGCGGGCG	0.682																																					p.R202W		Atlas-SNP	.											WNT5A,NS,carcinoma,+1,1	WNT5A	43	1	0			c.C604T						scavenged	.						16	22	20					3																	55508445		2142	4269	6411	SO:0001583	missense	7474	exon4			GCTCCCGCTCGCG	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.604C>T	3.37:g.55508445G>A	ENSP00000417310:p.Arg202Trp	Somatic	149	2	0.0134228		WXS	Illumina HiSeq	Phase_I	172	86	0.5	NM_003392	A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171647	0.78452	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	T;T;T;D	0.85861	-1.12;-1.12;-1.12;-2.04	4.84	1.2	0.21068	.	0.113021	0.56097	D	0.000031	D	0.92831	0.7720	M	0.93854	3.465	0.58432	D	0.999994	D	0.76494	0.999	D	0.63192	0.912	D	0.94072	0.7336	10	0.87932	D	0	.	13.9657	0.64207	0.0:0.0:0.4521:0.5478	.	202	P41221	WNT5A_HUMAN	W	202;202;113;187;187	ENSP00000417310:R202W;ENSP00000264634:R202W;ENSP00000420104:R187W;ENSP00000418184:R187W	ENSP00000264634:R202W	R	-	1	2	WNT5A	55483485	0.992000	0.36948	1.000000	0.80357	0.971000	0.66376	0.423000	0.21313	0.479000	0.27511	0.557000	0.71058	CGG	.	.	none		0.682	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		A	55508445	G	A	55508445	3	1	12	1	0	0	0	0	1	0	0	0	17388	1086	38	1	546	1	WNT5A	3	55508445	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	3080976	55508445	142513985	66	2830										
DNASE1L3	1776	hgsc.bcm.edu	37	chr3	58190568	58190568	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgcgtctccatcctgatagtCatggtagtgataactcctct	8	11	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:58190568C>T	ENST00000394549.2	-	4	677	c.361G>A	c.(361-363)Gac>Aac	p.D121N	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D121N|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121N	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCTGATAGTCATGGTAGTGA	0.488																																					p.D121N	Esophageal Squamous(96;1069 1424 4841 43466 52325)	Atlas-SNP	.											DNASE1L3,NS,carcinoma,0,2	DNASE1L3	36	2	0			c.G361A						scavenged	.						128	115	119					3																	58190568		2203	4300	6503	SO:0001583	missense	1776	exon4			GATAGTCATGGTA	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.361G>A	3.37:g.58190568C>T	ENSP00000378053:p.Asp121Asn	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_004944	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332469	0.60853	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	H	0.94620	3.56	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84379	0.0548	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	91;121;121	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	N	91;121;121;121;121;121	ENSP00000419052:D91N;ENSP00000316193:D121N;ENSP00000417047:D121N;ENSP00000378053:D121N;ENSP00000418113:D121N	ENSP00000316193:D121N	D	-	1	0	DNASE1L3	58165608	1.000000	0.71417	0.999000	0.59377	0.041000	0.13682	7.349000	0.79376	2.745000	0.94114	0.655000	0.94253	GAC	.	.	none		0.488	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		T	58190568	C	T	58190568	3	4	12	1	0	0	0	0	1	0	0	0	4663	826	29	2	576	2	DNASE1L3	3	58190568	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2682123	58190568	139831862	67	2831										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89259340	89259340	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tggatcttggggaccgtattCtgaagctcaacactgagatt	11	8	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:89259340C>T	ENST00000336596.2	+	3	709	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	EPHA3_ENST00000494014.1_Silent_p.L162L|EPHA3_ENST00000452448.2_Silent_p.L162L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	162	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGACCGTATTCTGAAGCTCAA	0.418										TSP Lung(6;0.00050)																											p.L162L		Atlas-SNP	.											EPHA3_ENST00000452448,colon,carcinoma,-1,7	EPHA3	501	7	0			c.C484T						scavenged	.						154	135	142					3																	89259340		2203	4300	6503	SO:0001819	synonymous_variant	2042	exon3			CGTATTCTGAAGC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.484C>T	3.37:g.89259340C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	179	2	0.0111732	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																			.	.	none		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89259340	C	T	89259340	2	4	12	1	0	0	0	0	0	0	0	1	5168	912	32	2		2	EPHA3	3	89259340	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	31068772	89259340	108763090	68	2832										
TFG	10342	hgsc.bcm.edu	37	chr3	100467168	100467168	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcacaaacttacactgcccaAacttctcagcctactaatta	3	14	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:100467168A>T	ENST00000240851.4	+	8	1336	c.996A>T	c.(994-996)caA>caT	p.Q332H	TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Missense_Mutation_p.Q328H|TFG_ENST00000476228.1_Missense_Mutation_p.Q328H|TFG_ENST00000490574.1_Missense_Mutation_p.Q332H	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	332					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ACACTGCCCAAACTTCTCAGC	0.527			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																p.Q332H		Atlas-SNP	.		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	.	TFG	42	.	0			c.A996T						PASS	.						84	86	85					3																	100467168		2203	4300	6503	SO:0001583	missense	10342	exon8			TGCCCAAACTTCT	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.996A>T	3.37:g.100467168A>T	ENSP00000240851:p.Gln332His	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	165	62	0.375758	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.92|15.92	2.976031|2.976031	0.53720|0.53720	.|.	.|.	ENSG00000114354|ENSG00000114354	ENST00000443578|ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	.|T;T;T;T	.|0.54479	.|0.62;0.57;0.57;0.62	6.16|6.16	-2.35|-2.35	0.06684|0.06684	.|.	.|0.117044	.|0.64402	.|D	.|0.000009	T|T	0.55657|0.55657	0.1934|0.1934	L|L	0.29908|0.29908	0.895|0.895	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D	.|0.64830	.|0.994;0.99	.|D;D	.|0.78314	.|0.991;0.979	T|T	0.55075|0.55075	-0.8197|-0.8197	6|10	0.87932|0.56958	D|D	0|0.05	-3.1538|-3.1538	13.2698|13.2698	0.60153|0.60153	0.5279:0.0:0.4721:0.0|0.5279:0.0:0.4721:0.0	.|.	.|328;332	.|G5E9V1;Q92734	.|.;TFG_HUMAN	I|H	328|328;332;332;328	.|ENSP00000397182:Q328H;ENSP00000419960:Q332H;ENSP00000240851:Q332H;ENSP00000417952:Q328H	ENSP00000409727:K328I|ENSP00000240851:Q332H	K|Q	+|+	2|3	0|2	TFG|TFG	101949858|101949858	0.992000|0.992000	0.36948|0.36948	0.582000|0.582000	0.28627|0.28627	0.885000|0.885000	0.51271|0.51271	0.363000|0.363000	0.20301|0.20301	-0.351000|-0.351000	0.08249|0.08249	-0.297000|-0.297000	0.09499|0.09499	AAA|CAA	.	.	none		0.527	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		T	100467168	A	T	100467168	3	4	12	1	0	0	0	0	1	0	0	0	15803	11	1	5	1022	5	TFG	3	100467168	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	11207828	100467168	97555262	69	2833										
RABL3	285282	hgsc.bcm.edu	37	chr3	120409318	120409318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gattaccttctcttaaaaagTatctcttctctatgacctgt	4	10	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:120409318T>C	ENST00000273375.3	-	7	652	c.623A>G	c.(622-624)tAc>tGc	p.Y208C	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.Y184C	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	208	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TCTTAAAAAGTATCTCTTCTC	0.323																																					p.Y208C		Atlas-SNP	.											.	RABL3	23	.	0			c.A623G						PASS	.						40	43	42					3																	120409318		2199	4290	6489	SO:0001583	missense	285282	exon7			AAAAAGTATCTCT	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.623A>G	3.37:g.120409318T>C	ENSP00000273375:p.Tyr208Cys	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	237	102	0.43038	NM_173825	Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338274	0.81911	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74737	-0.58;-0.87	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	T	0.75184	-0.3407	10	0.52906	T	0.07	-7.5345	14.2018	0.65710	0.0:0.0:0.0:1.0	.	208	Q5HYI8	RABL3_HUMAN	C	208;184	ENSP00000273375:Y208C;ENSP00000419986:Y184C	ENSP00000273375:Y208C	Y	-	2	0	RABL3	121892008	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.258000	0.78371	2.288000	0.76882	0.533000	0.62120	TAC	.	.	none		0.323	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		C	120409318	T	C	120409318	3	2	12	1	0	0	0	0	1	0	0	0	12972	1638	57	2	95	2	RABL3	3	120409318	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	19942150	120409318	77613112	70	2834										
PIK3R4	30849	hgsc.bcm.edu	37	chr3	130447403	130447403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caaaacatcgttggctttctGacgtccaaagaatacacaca	6	11	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:130447403G>T	ENST00000356763.3	-	6	2268	c.1711C>A	c.(1711-1713)Cag>Aag	p.Q571K		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	571					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q571E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGCTTTCTGACGTCCAAAG	0.368																																					p.Q571K		Atlas-SNP	.											PIK3R4,NS,carcinoma,0,1	PIK3R4	145	1	1	Substitution - Missense(1)	lung(1)	c.C1711A						scavenged	.						109	113	112					3																	130447403		2203	4300	6503	SO:0001583	missense	30849	exon6			CTTTCTGACGTCC	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1711C>A	3.37:g.130447403G>T	ENSP00000349205:p.Gln571Lys	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	290	4	0.0137931	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803515	0.70682	.	.	ENSG00000196455	ENST00000356763	T	0.50001	0.76	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.109608	0.64402	D	0.000004	T	0.59569	0.2203	M	0.72624	2.21	0.80722	D	1	P	0.42620	0.785	P	0.48598	0.583	T	0.53620	-0.8413	10	0.27785	T	0.31	-20.4633	19.9093	0.97021	0.0:0.0:1.0:0.0	.	571	Q99570	PI3R4_HUMAN	K	571	ENSP00000349205:Q571K	ENSP00000349205:Q571K	Q	-	1	0	PIK3R4	131930093	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.388000	0.97237	2.785000	0.95823	0.655000	0.94253	CAG	.	.	none		0.368	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		T	130447403	G	T	130447403	3	4	12	1	0	0	0	0	1	0	0	0	11921	1299	45	4	2425	4	PIK3R4	3	130447403	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	10038085	130447403	67575027	71	2835										
HPS3	84343	hgsc.bcm.edu	37	chr3	148863210	148863210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gagtctcttttgctttttctCcttacctcatgtgggctatc	7	11	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:148863210C>T	ENST00000296051.2	+	5	1180	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	HPS3_ENST00000460120.1_Missense_Mutation_p.S182F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	347					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGCTTTTTCTCCTTACCTCAT	0.393									Hermansky-Pudlak syndrome																												p.S347F		Atlas-SNP	.											HPS3,NS,carcinoma,-1,1	HPS3	104	1	0			c.C1040T						scavenged	.						135	142	140					3																	148863210		2203	4300	6503	SO:0001583	missense	84343	exon5	Familial Cancer Database	HPS, HPS1-8	TTTTCTCCTTACC	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1040C>T	3.37:g.148863210C>T	ENSP00000296051:p.Ser347Phe	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	194	4	0.0206186	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498024	0.85069	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.70749	-0.51;-0.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84844	0.5562	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85842	0.1398	10	0.87932	D	0	-16.1199	19.7151	0.96113	0.0:1.0:0.0:0.0	.	182;347	G5E9V4;Q969F9	.;HPS3_HUMAN	F	347;182	ENSP00000296051:S347F;ENSP00000418230:S182F	ENSP00000296051:S347F	S	+	2	0	HPS3	150345900	1.000000	0.71417	0.965000	0.40720	0.906000	0.53458	6.904000	0.75708	2.742000	0.94016	0.650000	0.86243	TCC	.	.	none		0.393	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148863210	C	T	148863210	3	4	12	1	0	0	0	0	1	0	0	0	7340	855	30	2	1058	2	HPS3	3	148863210	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	18415807	148863210	49159220	72	2836										
MED12L	116931	hgsc.bcm.edu	37	chr3	150881802	150881802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccgtccagcctccccatgccGggtgggaacacggctttcaa	11	16	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:150881802G>A	ENST00000474524.1	+	8	1268	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	MED12L_ENST00000422248.2_Silent_p.P410P|MED12L_ENST00000309237.4_Silent_p.P410P|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	410						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCCCATGCCGGGTGGGAACA	0.522																																					p.P410P		Atlas-SNP	.											MED12L,NS,carcinoma,+1,1	MED12L	271	1	0			c.G1230A						scavenged	.						53	53	53					3																	150881802		2203	4300	6503	SO:0001819	synonymous_variant	116931	exon8			CATGCCGGGTGGG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1230G>A	3.37:g.150881802G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	134	2	0.0149254	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																			.	.	none		0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	150881802	G	A	150881802	2	1	12	1	0	0	0	0	0	0	0	1	9429	1103	39	1		1	MED12L	3	150881802	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2018592	150881802	47140628	73	2837										
AADAC	13	hgsc.bcm.edu	37	chr3	151542519	151542519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atataatgccttaaggtggtTcttacgtaaaaaagttcttg	8	5	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:151542519T>C	ENST00000232892.7	+	4	626	c.500T>C	c.(499-501)tTc>tCc	p.F167S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.F167S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	167					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTAAGGTGGTTCTTACGTAAA	0.368																																					p.F167S	Ovarian(30;839 841 2699 32801 46334)	Atlas-SNP	.											.	AADAC	49	.	0			c.T500C						PASS	.						100	100	100					3																	151542519		2203	4300	6503	SO:0001583	missense	13	exon4			GGTGGTTCTTACG	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.500T>C	3.37:g.151542519T>C	ENSP00000232892:p.Phe167Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	123	5	0.0406504	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970163	0.53614	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.58940	0.3;2.79	4.73	4.73	0.59995	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80535	-0.1339	10	0.87932	D	0	-49.2631	14.2071	0.65741	0.0:0.0:0.0:1.0	.	167	P22760	AAAD_HUMAN	S	167	ENSP00000232892:F167S;ENSP00000419620:F167S	ENSP00000232892:F167S	F	+	2	0	AADAC	153025209	1.000000	0.71417	0.780000	0.31762	0.078000	0.17371	7.000000	0.76290	1.739000	0.51704	0.472000	0.43445	TTC	.	.	none		0.368	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		C	151542519	T	C	151542519	3	2	12	1	0	0	0	0	1	0	0	0	10	1783	62	2	514	2	AADAC	3	151542519	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	660717	151542519	46479911	74	2838										
MLF1	4291	hgsc.bcm.edu	37	chr3	158289125	158289125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aacagcagttttgaggatgaCcccttcttctcgtgagttac	9	10	2	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:158289125C>T	ENST00000355893.5	+	1	174	c.36C>T	c.(34-36)gaC>gaT	p.D12D	MLF1_ENST00000478894.2_5'UTR|MLF1_ENST00000497004.1_3'UTR|RP11-538P18.2_ENST00000479233.1_RNA|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000484955.1_5'UTR|MLF1_ENST00000482628.1_5'UTR|MLF1_ENST00000392822.3_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000359117.5_5'UTR|RP11-538P18.2_ENST00000475981.1_RNA	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	12					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTGAGGATGACCCCTTCTTCT	0.542			T	NPM1	AML																																p.D12D		Atlas-SNP	.		Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	.	MLF1	62	.	0			c.C36T						PASS	.						58	59	58					3																	158289125		2203	4300	6503	SO:0001819	synonymous_variant	4291	exon1			GGATGACCCCTTC	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.36C>T	3.37:g.158289125C>T		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	276	120	0.434783	NM_022443	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Silent	SNP	ENST00000355893.5	37	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056610	0.07362	.	.	ENSG00000178053	ENST00000498592	T	0.44083	0.93	4.0	-2.07	0.07276	.	.	.	.	.	T	0.47060	0.1425	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51942	-0.8641	6	0.87932	D	0	.	8.357	0.32335	0.0:0.3789:0.0:0.6211	.	.	.	.	I	2	ENSP00000419636:T2I	ENSP00000419636:T2I	T	+	2	0	MLF1	159771819	0.450000	0.25697	0.841000	0.33234	0.072000	0.16883	-1.082000	0.03400	-0.346000	0.08312	-0.379000	0.06801	ACC	.	.	none		0.542	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		T	158289125	C	T	158289125	2	4	12	1	0	0	0	0	0	0	0	1	9614	506	18	2		2	MLF1	3	158289125	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6746606	158289125	39733305	75	2839										
CLCN2	1181	hgsc.bcm.edu	37	chr3	184071474	184071474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggactccactagggccagcaTtcggcccttggtcctgtgca	12	14	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:184071474T>G	ENST00000265593.4	-	16	2002	c.1831A>C	c.(1831-1833)Atg>Ctg	p.M611L	CLCN2_ENST00000457512.1_Missense_Mutation_p.M611L|CLCN2_ENST00000344937.7_Missense_Mutation_p.M594L|CLCN2_ENST00000434054.2_Missense_Mutation_p.M567L|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	611	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGGCCAGCATTCGGCCCTTG	0.657																																					p.M611L		Atlas-SNP	.											.	CLCN2	74	.	0			c.A1831C						PASS	.						38	37	37					3																	184071474		2202	4300	6502	SO:0001583	missense	1181	exon16			CCAGCATTCGGCC	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1831A>C	3.37:g.184071474T>G	ENSP00000265593:p.Met611Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	74	30	0.405405	NM_004366	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	t	16.00	2.998041	0.54147	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.0	3.81	0.43845	Cystathionine beta-synthase, core (1);	0.387182	0.31709	N	0.007192	T	0.76364	0.3977	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.16166	0.016;0.009;0.015;0.004;0.009	B;B;B;B;B	0.15052	0.005;0.005;0.012;0.005;0.005	T	0.69172	-0.5215	10	0.62326	D	0.03	-12.1521	5.9788	0.19395	0.1445:0.0793:0.0:0.7762	.	567;611;594;611;567	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	L	611;594;567;611	ENSP00000265593:M611L;ENSP00000345056:M594L;ENSP00000400425:M567L;ENSP00000391928:M611L	ENSP00000265593:M611L	M	-	1	0	CLCN2	185554168	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.305000	0.51873	0.734000	0.32515	0.460000	0.39030	ATG	.	.	none		0.657	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			G	184071474	T	G	184071474	3	3	12	1	0	0	0	0	1	0	0	0	3463	1493	52	5	901	5	CLCN2	3	184071474	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	25782349	184071474	13950956	76	2840										
RTP1	132112	hgsc.bcm.edu	37	chr3	186915368	186915368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctaccctcactctccgtgtTctcactaaggtggaaattgc	7	14	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:186915368T>C	ENST00000312295.4	+	1	95	c.65T>C	c.(64-66)tTc>tCc	p.F22S	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	22					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTCTCCGTGTTCTCACTAAGG	0.527																																					p.F22S		Atlas-SNP	.											RTP1,NS,carcinoma,-1,1	RTP1	51	1	0			c.T65C						scavenged	.						142	144	143					3																	186915368		2203	4300	6503	SO:0001583	missense	132112	exon1			CCGTGTTCTCACT	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.65T>C	3.37:g.186915368T>C	ENSP00000311712:p.Phe22Ser	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	235	4	0.0170213	NM_153708		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486637	0.44249	.	.	ENSG00000175077	ENST00000312295	T	0.15834	2.39	5.84	4.68	0.58851	.	0.301827	0.29198	N	0.012842	T	0.11879	0.0289	N	0.22421	0.69	0.26932	N	0.966439	B	0.23650	0.089	B	0.21546	0.035	T	0.17077	-1.0381	10	0.72032	D	0.01	.	8.5802	0.33623	0.0:0.0865:0.0:0.9135	.	22	P59025	RTP1_HUMAN	S	22	ENSP00000311712:F22S	ENSP00000311712:F22S	F	+	2	0	RTP1	188398062	0.972000	0.33761	0.938000	0.37757	0.672000	0.39443	1.611000	0.36879	1.046000	0.40249	0.533000	0.62120	TTC	.	.	none		0.527	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		C	186915368	T	C	186915368	3	2	12	1	0	0	0	0	1	0	0	0	13733	1783	62	2	67	2	RTP1	3	186915368	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2843894	186915368	11107062	77	2841										
FAM43A	131583	hgsc.bcm.edu	37	chr3	194408350	194408350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggcgaacagctggagcaggaGctgcaggaggaagaggaaga	19	6	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr3:194408350G>A	ENST00000329759.4	+	1	1729	c.795G>A	c.(793-795)gaG>gaA	p.E265E		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	265										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		TGGAGCAGGAGCTGCAGGAGG	0.677																																					p.E265E		Atlas-SNP	.											.	FAM43A	24	.	0			c.G795A						PASS	.						15	18	17					3																	194408350		2194	4293	6487	SO:0001819	synonymous_variant	131583	exon1			GCAGGAGCTGCAG	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.795G>A	3.37:g.194408350G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	183	88	0.480874	NM_153690	A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	CCDS33923.1																																																																																			.	.	none		0.677	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		A	194408350	G	A	194408350	2	1	12	1	0	0	0	0	0	0	0	1	5562	962	34	2		2	FAM43A	3	194408350	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	7492982	194408350	3614080	78	2842										
AFM	173	hgsc.bcm.edu	37	chr4	74361142	74361142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaaccctccaggttgttaccGttacgcggtaggttccattg	10	11	0	0	rs41265665	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:74361142G>A	ENST00000226355.3	+	9	1277	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	395	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.		R -> H (in dbSNP:rs41265665).		vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTTGTTACCGTTACGCGGTA	0.388													G|||	190	0.0379393	0.0598	0.0274	5008	,	,		17837	0.0109		0.0258	False		,,,				2504	0.0562				p.R395H		Atlas-SNP	.											.	AFM	101	.	0			c.G1184A						PASS	.	G	HIS/ARG	274,4130	151.0+/-185.0	5,264,1933	64	71	68		1184	2.3	0	4	dbSNP_127	68	216,8384	89.4+/-151.6	4,208,4088	yes	missense	AFM	NM_001133.2	29	9,472,6021	AA,AG,GG		2.5116,6.2216,3.7681	benign	395/600	74361142	490,12514	2202	4300	6502	SO:0001583	missense	173	exon9			GTTACCGTTACGC	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1184G>A	4.37:g.74361142G>A	ENSP00000226355:p.Arg395His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	26	18	0.692308	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	53	0.024267399267399268	20	0.04065040650406504	13	0.03591160220994475	3	0.005244755244755245	17	0.022427440633245383	G	10.23	1.292088	0.23564	0.062216	0.025116	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	4.01	2.27	0.28462	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);	0.889220	0.09793	N	0.755068	T	0.20618	0.0496	L	0.57536	1.79	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.36359	-0.9751	10	0.39692	T	0.17	.	6.2778	0.20991	0.2273:0.0:0.7727:0.0	rs41265665;rs61747692	395	P43652	AFAM_HUMAN	H	395	ENSP00000226355:R395H	ENSP00000226355:R395H	R	+	2	0	AFM	74580006	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-0.543000	0.06084	0.475000	0.27415	0.650000	0.86243	CGT	G|0.966;A|0.034	0.034	strong		0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			A	74361142	G	A	74361142	3	1	12	1	0	0	0	0	1	0	0	0	361	1145	40	1	1218	1	AFM	4	74361142	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		74361142	116793134	79	2843										
DSPP	1834	hgsc.bcm.edu	37	chr4	88536448	88536448	+	Silent	SNP	C	C	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gacagcagcaacagcagtgaCagcagtgatagcagtgacag					rs111205175		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D878D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																					p.D878D		Atlas-SNP	.											.	DSPP	174	.	0			c.C2634T						PASS	.						70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	102	15	0.147059	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	12	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88536448	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	14175306	88536448	102617828	80	2844	52	3	1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
DSPP	1834	hgsc.bcm.edu	37	chr4	88536451	88536451	+	Silent	SNP	C	C	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agcagcaacagcagtgacagCagtgatagcagtgacagcaa					rs111205176|rs149201255		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S879S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																					p.S879S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.C2637T						PASS	.						71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834	exon5			TGACAGCAGTGAT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	95	18	0.189474	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	12	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536451	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3	88536451	102617825	81	2845	52	3	1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
DSPP	1834	hgsc.bcm.edu	37	chr4	88536460	88536460	+	Silent	SNP	C	C	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agcagtgacagcagtgatagCagtgacagcaacgaaagcag					rs199691318		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S882S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																					p.S882S		Atlas-SNP	.											.	DSPP	174	.	0			c.C2646T						PASS	.						73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834	exon5			TGATAGCAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	91	18	0.197802	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	12	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536460	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9	88536460	102617816	82	2846	52	3	1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
DSPP	1834	hgsc.bcm.edu	37	chr4	88536472	88536472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agtgatagcagtgacagcaaCgaaagcagcaatagcagtga	12	7	0	3	rs561406193		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88536472C>T	ENST00000282478.7	+	4	2691	c.2658C>T	c.(2656-2658)aaC>aaT	p.N886N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.N886N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	886	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcaacgaaagcagca	0.493																																					p.N886N		Atlas-SNP	.											.	DSPP	174	.	0			c.C2658T						PASS	.						72	87	82					4																	88536472		1623	2913	4536	SO:0001819	synonymous_variant	1834	exon5			CAGCAACGAAAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2658C>T	4.37:g.88536472C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	93	10	0.107527	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	none		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536472	C	T	88536472	2	4	12	1	0	0	0	0	0	0	0	1	4782	535	19	1		1	DSPP	4	88536472	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12	88536472	102617804	83	2847			1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga	13	6	0	4	rs367717407|rs373805744	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1088S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.T3264C						scavenged	.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	112	5	0.0446429		WXS	Illumina HiSeq	Phase_I	49	15	0.306122	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537078	T	C	88537078	2	2	12	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88537078	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	606	88537078	102617198	84	2848			1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
DSPP	1834	hgsc.bcm.edu	37	chr4	88537205	88537213	+	In_Frame_Del	DEL	GACAGCAGT	GACAGCAGT	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgacagcagtgacagcagcGacagcagtgatagcagtgac					rs143067236|rs151217478|rs551655835	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	GACAGCAGT	GACAGCAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:88537205_88537213delGACAGCAGT	ENST00000282478.7	+	4	3424_3432	c.3391_3399delGACAGCAGT	c.(3391-3399)gacagcagtdel	p.DSS1137del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.DSS1137del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1137	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgacagcagtgatagcagtg	0.569																																					p.1130_1133del		Atlas-Indel	.											.	DSPP	174	.	0			c.3390_3398del						PASS	.			357,1999		74,209,895						-1.1	0			19	1005,3537		137,731,1403	no	coding	DSPP	NM_014208.3		211,940,2298	A1A1,A1R,RR		22.1268,15.1528,19.7449				1362,5536				SO:0001651	inframe_deletion	1834	exon5			.	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3391_3399delGACAGCAGT	4.37:g.88537205_88537213delGACAGCAGT	ENSP00000282478:p.Asp1137_Ser1139del	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	57	30	0.526316	NM_014208	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	none		0.569	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537213	GACAGCAGT	-	88537205	7	5	12	1	0	1	0	1	0	0	0	0	4782	1058	37	0	3405	0	DSPP	4	88537205	In_Frame_Del	DEL	GACAGCAGT	TCGA-FF-8043-01A-11D-2210-10	127	88537205	102617071	85	2849			1	17		6	4	758	N	T_GACAGCAGT_C	6.135589e-08
GPRIN3	285513	hgsc.bcm.edu	37	chr4	90170368	90170368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcttggttggtcatcgtactGgcttctttgaaccttgacat	10	9	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:90170368G>A	ENST00000609438.1	-	2	1412	c.894C>T	c.(892-894)gcC>gcT	p.A298A	GPRIN3_ENST00000333209.4_Silent_p.A298A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	298										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCATCGTACTGGCTTCTTTGA	0.567																																					p.A298A		Atlas-SNP	.											.	GPRIN3	90	.	0			c.C894T						PASS	.						117	116	116					4																	90170368		2203	4300	6503	SO:0001819	synonymous_variant	285513	exon2			CGTACTGGCTTCT	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.894C>T	4.37:g.90170368G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	115	5	0.0434783	NM_198281	Q8IVE4	Silent	SNP	ENST00000609438.1	37	CCDS34030.1																																																																																			.	.	none		0.567	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		A	90170368	G	A	90170368	2	1	12	1	0	0	0	0	0	0	0	1	6731	1335	47	2		2	GPRIN3	4	90170368	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1633163	90170368	100983908	86	2850										
GYPB	2994	hgsc.bcm.edu	37	chr4	144922415	144922415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	7	10	2	1	rs189622883	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:144922415A>G	ENST00000502664.1	-	2	110	c.59T>C	c.(58-60)tTa>tCa	p.L20S	GYPB_ENST00000429670.2_Missense_Mutation_p.L20S|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Missense_Mutation_p.L20S	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	20						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353																																					p.L20S		Atlas-SNP	.											GYPB_ENST00000502664,brain,glioma,0,2	GYPB	17	2	0			c.T59C						scavenged	.						129	161	150					4																	144922415		2196	4300	6496	SO:0001583	missense	2994	exon2			GTACTTAATGCTG		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.59T>C	4.37:g.144922415A>G	ENSP00000427690:p.Leu20Ser	Somatic	700	3	0.00428571		WXS	Illumina HiSeq	Phase_I	392	4	0.0102041	NM_002100	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	CCDS54809.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174631	0.09391	.	.	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000429670	T;T;T	0.04406	4.6;4.6;3.63	1.55	0.248	0.15526	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43621	-0.9380	8	0.51188	T	0.08	.	2.4243	0.04455	0.2725:0.0:0.2871:0.4404	.	20	E2QBW7	.	S	20	ENSP00000283126:L20S;ENSP00000427690:L20S;ENSP00000394200:L20S	ENSP00000283126:L20S	L	-	2	0	GYPB	145141865	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.249000	0.00266	-0.311000	0.08754	-1.389000	0.01157	TTA	A|0.986;C|0.014	.	alt		0.353	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100		G	144922415	A	G	144922415	3	3	12	1	0	0	0	0	1	0	0	0	6909	372	13	2	232	2	GYPB	4	144922415	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	54752047	144922415	46231861	87	2851										
SORBS2	8470	hgsc.bcm.edu	37	chr4	186544315	186544315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggtgcaggatgctgttgtcCggcaagctcccccttttctt	11	13	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr4:186544315C>T	ENST00000284776.7	-	13	2765	c.2256G>A	c.(2254-2256)ccG>ccA	p.P752P	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.P852P|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Silent_p.P752P|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.P656P|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGCTGTTGTCCGGCAAGCTCC	0.527																																					p.P852P	Esophageal Squamous(153;41 2433 9491 36028)	Atlas-SNP	.											SORBS2_ENST00000418609,NS,carcinoma,-1,3	SORBS2	300	3	0			c.G2556A						scavenged	.						140	160	153					4																	186544315		2203	4300	6503	SO:0001819	synonymous_variant	8470	exon16			GTTGTCCGGCAAG		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2256G>A	4.37:g.186544315C>T		Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_001270771	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	CCDS3845.1																																																																																			.	.	none		0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		T	186544315	C	T	186544315	2	4	12	1	0	0	0	0	0	0	0	1	14928	639	23	1		1	SORBS2	4	186544315	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	41621900	186544315	4609961	88	2852										
SDHA	6389	hgsc.bcm.edu	37	chr5	236617	236617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggggaggccgcctgtgcctcGgtacatggtgccaaccgcct	15	14	0	0	rs200223188	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000504309.1_Silent_p.S445S|SDHA_ENST00000510361.1_Silent_p.S397S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial Paragangliomas				G|||	2	0.000399361	0.0015	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0				p.S445S		Atlas-SNP	.											SDHA,NS,carcinoma,0,1	SDHA	80	1	1	Substitution - coding silent(1)	breast(1)	c.G1335T						scavenged	.						73	67	69					5																	236617		2203	4300	6503	SO:0001819	synonymous_variant	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCTCGGTACAT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1335G>T	5.37:g.236617G>T		Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	372	4	0.0107527	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	CCDS3853.1																																																																																			A|0.002;G|0.988;T|0.011	0.011	strong		0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	236617	G	T	236617	2	4	12	1	0	0	0	0	0	0	0	1	13963	1103	39	4		4	SDHA	5	236617	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10		236617	180678643	89	2853										
NIPBL	25836	hgsc.bcm.edu	37	chr5	37045655	37045655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcaccgttggagcactatgtCggcattttgattttgatctg	10	8	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:37045655C>T	ENST00000282516.8	+	37	6953	c.6454C>T	c.(6454-6456)Cgg>Tgg	p.R2152W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCACTATGTCGGCATTTTGA	0.358																																					p.R2152W		Atlas-SNP	.											NIPBL_ENST00000448238,NS,carcinoma,-1,2	NIPBL	513	2	0			c.C6454T						scavenged	.						208	214	212					5																	37045655		2203	4300	6503	SO:0001583	missense	25836	exon37			CTATGTCGGCATT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6454C>T	5.37:g.37045655C>T	ENSP00000282516:p.Arg2152Trp	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378568	0.82682	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66995	-0.24;-0.24	5.52	4.64	0.57946	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84343	0.0528	10	0.87932	D	0	-7.466	15.901	0.79377	0.1366:0.8634:0.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	W	2152	ENSP00000282516:R2152W;ENSP00000406266:R2152W	ENSP00000282516:R2152W	R	+	1	2	NIPBL	37081412	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.383000	0.59600	1.428000	0.47296	0.557000	0.71058	CGG	.	.	none		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37045655	C	T	37045655	3	4	12	1	0	0	0	0	1	0	0	0	10428	875	31	1	6596	1	NIPBL	5	37045655	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	36809038	37045655	143869605	90	2854										
C6	729	hgsc.bcm.edu	37	chr5	41199992	41199992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtcccccaaactgactgggaCgcaagacagatctaacttta	8	12	1	3	rs200213547		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:41199992C>T	ENST00000263413.3	-	4	587	c.323G>A	c.(322-324)cGt>cAt	p.R108H	C6_ENST00000337836.5_Missense_Mutation_p.R108H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	108	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGACTGGGACGCAAGACAGA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16584	0.0		0.0	False		,,,				2504	0.0				p.R108H		Atlas-SNP	.											.	C6	197	.	0			c.G323A						PASS	.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	72	74		323,323	3.3	1	5		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C6	NM_000065.2,NM_001115131.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	108/935,108/935	41199992	2,13004	2203	4300	6503	SO:0001583	missense	729	exon4			CTGGGACGCAAGA	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.323G>A	5.37:g.41199992C>T	ENSP00000263413:p.Arg108His	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	144	64	0.444444	NM_001115131		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240753	0.58995	2.27E-4	1.16E-4	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.54279	0.58;0.58;0.58	6.02	3.34	0.38264	.	0.153716	0.56097	D	0.000026	T	0.54615	0.1869	M	0.83312	2.635	0.46849	D	0.99922	B	0.30281	0.275	B	0.31245	0.126	T	0.54964	-0.8214	10	0.66056	D	0.02	-6.8361	9.4574	0.38762	0.0:0.7151:0.0:0.2849	.	108	P13671	CO6_HUMAN	H	108	ENSP00000338861:R108H;ENSP00000263413:R108H;ENSP00000396565:R108H	ENSP00000263413:R108H	R	-	2	0	C6	41235749	0.445000	0.25657	0.999000	0.59377	0.907000	0.53573	0.370000	0.20433	0.460000	0.27045	0.650000	0.86243	CGT	.	.	weak		0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41199992	C	T	41199992	3	4	12	1	0	0	0	0	1	0	0	0	2315	536	19	1	2541	1	C6	5	41199992	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	4154337	41199992	139715268	91	2855										
PLCXD3	345557	hgsc.bcm.edu	37	chr5	41382437	41382437	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttgtcggggtctctgggcttGgtggaaattcgaagatcaaa	14	6	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:41382437G>T	ENST00000377801.3	-	2	377	c.303C>A	c.(301-303)acC>acA	p.T101T	PLCXD3_ENST00000328457.3_Silent_p.T101T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	101	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.T101T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTCTGGGCTTGGTGGAAATTC	0.448																																					p.T101T		Atlas-SNP	.											PLCXD3,NS,carcinoma,0,1	PLCXD3	86	1	1	Substitution - coding silent(1)	lung(1)	c.C303A						scavenged	.						78	82	81					5																	41382437		2203	4300	6503	SO:0001819	synonymous_variant	345557	exon2			GGGCTTGGTGGAA		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.303C>A	5.37:g.41382437G>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	195	2	0.0102564	NM_001005473	A6NL04	Silent	SNP	ENST00000377801.3	37	CCDS34150.1																																																																																			.	.	none		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41382437	G	T	41382437	2	4	12	1	0	0	0	0	0	0	0	1	12043	1335	47	4		4	PLCXD3	5	41382437	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	182445	41382437	139532823	92	2856										
ANKRA2	57763	hgsc.bcm.edu	37	chr5	72857086	72857086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gccttacttgaattcccggaGaaggagatgtatggatattg	12	6	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:72857086G>A	ENST00000296785.3	-	3	975	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	106						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		AATTCCCGGAGAAGGAGATGT	0.363																																					p.S106F		Atlas-SNP	.											ANKRA2,colon,carcinoma,0,1	ANKRA2	23	1	0			c.C317T						scavenged	.						198	174	182					5																	72857086		2203	4300	6503	SO:0001583	missense	57763	exon3			CCCGGAGAAGGAG	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.317C>T	5.37:g.72857086G>A	ENSP00000296785:p.Ser106Phe	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	206	3	0.0145631	NM_023039		Missense_Mutation	SNP	ENST00000296785.3	37	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811397	0.90707	.	.	ENSG00000164331	ENST00000296785	T	0.40756	1.02	4.92	4.92	0.64577	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.60954	-0.7160	10	0.66056	D	0.02	-14.2183	18.1209	0.89571	0.0:0.0:1.0:0.0	.	106	Q9H9E1	ANRA2_HUMAN	F	106	ENSP00000296785:S106F	ENSP00000296785:S106F	S	-	2	0	ANKRA2	72892842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.576000	0.82467	2.262000	0.75019	0.455000	0.32223	TCT	.	.	none		0.363	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		A	72857086	G	A	72857086	3	1	12	1	0	0	0	0	1	0	0	0	636	942	33	2	652	2	ANKRA2	5	72857086	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	31474649	72857086	108058174	93	2857										
POC5	134359	hgsc.bcm.edu	37	chr5	74970335	74970335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctggttccaagtgatctggaAgctgaggtactactttcagg	12	8	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:74970335A>G	ENST00000428202.2	-	12	1842	c.1653T>C	c.(1651-1653)gcT>gcC	p.A551A	POC5_ENST00000446329.2_Silent_p.A526A|POC5_ENST00000514838.2_Silent_p.A523A|POC5_ENST00000510798.1_Silent_p.A375A|POC5_ENST00000380475.2_Silent_p.A375A	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	551					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGATCTGGAAGCTGAGGTAC	0.418																																					p.A551A		Atlas-SNP	.											POC5_ENST00000428202,NS,neuroblastoma,-2,2	POC5	82	2	0			c.T1653C						scavenged	.						250	247	248					5																	74970335		1905	4131	6036	SO:0001819	synonymous_variant	134359	exon12			TCTGGAAGCTGAG	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1653T>C	5.37:g.74970335A>G		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	271	3	0.0110701	NM_001099271	B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	ENST00000428202.2	37	CCDS47236.1																																																																																			.	.	none		0.418	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		G	74970335	A	G	74970335	2	3	12	1	0	0	0	0	0	0	0	1	12177	59	3	3		3	POC5	5	74970335	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	2113249	74970335	105944925	94	2858										
SLC22A4	6583	hgsc.bcm.edu	37	chr5	131630691	131630691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aggacgtctacctgtccaccGtcgtgaccgaggtgggtgcc	14	13	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:131630691G>A	ENST00000200652.3	+	1	556	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	128					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CCTGTCCACCGTCGTGACCGA	0.706																																					p.V128I		Atlas-SNP	.											SLC22A4,NS,carcinoma,-2,1	SLC22A4	45	1	0			c.G382A						scavenged	.						16	20	18					5																	131630691		2186	4271	6457	SO:0001583	missense	6583	exon1			TCCACCGTCGTGA	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.382G>A	5.37:g.131630691G>A	ENSP00000200652:p.Val128Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	124	3	0.0241935	NM_003059	O14546	Missense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	4.305	0.055893	0.08291	.	.	ENSG00000197208	ENST00000200652	T	0.72394	-0.65	4.61	3.36	0.38483	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.114836	0.56097	N	0.000028	T	0.28034	0.0691	N	0.00280	-1.71	0.35384	D	0.790137	B	0.09022	0.002	B	0.13407	0.009	T	0.44128	-0.9348	10	0.02654	T	1	.	9.0762	0.36522	0.9012:0.0:0.0988:0.0	.	128	Q9H015	S22A4_HUMAN	I	128	ENSP00000200652:V128I	ENSP00000200652:V128I	V	+	1	0	SLC22A4	131658590	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.706000	0.54830	0.810000	0.34279	-0.345000	0.07892	GTC	.	.	none		0.706	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		A	131630691	G	A	131630691	3	1	12	1	0	0	0	0	1	0	0	0	14456	1145	40	1	384	1	SLC22A4	5	131630691	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	56660356	131630691	49284569	95	2859										
NRG2	9542	hgsc.bcm.edu	37	chr5	139260442	139260442	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgtctgggcccacctaccGctgttgacgtaaagccggcc	11	15	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:139260442G>A	ENST00000361474.1	-	3	1214	c.990C>T	c.(988-990)agC>agT	p.S330S	NRG2_ENST00000545385.1_Splice_Site_p.S330S|NRG2_ENST00000541337.1_Splice_Site_p.S330S|NRG2_ENST00000394770.1_Splice_Site_p.S330S|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000340391.3_Splice_Site_p.S127S|NRG2_ENST00000289422.7_Splice_Site_p.S330S|NRG2_ENST00000289409.4_Splice_Site_p.S330S|NRG2_ENST00000358522.3_Splice_Site_p.S330S	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	330	Ig-like C2-type.|Ser/Thr-rich.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S330S(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCTACCGCTGTTGACGT	0.642																																					p.S330S		Atlas-SNP	.											NRG2,NS,carcinoma,0,1	NRG2	69	1	1	Substitution - coding silent(1)	stomach(1)	c.C990T						PASS	.						75	78	77					5																	139260442		2203	4300	6503	SO:0001630	splice_region_variant	9542	exon3			CCTACCGCTGTTG		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.991+1C>T	5.37:g.139260442G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	86	26	0.302326	NM_013982		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																			.	.	none		0.642	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	Silent	A	139260442	G	A	139260442	5	1	12	1	0	0	0	0	0	0	1	0	10648	1101	38	1	1685	1	NRG2	5	139260442	Splice_Site	SNP	G	TCGA-FF-8043-01A-11D-2210-10	7629751	139260442	41654818	96	2860										
PCDHA7	56141	hgsc.bcm.edu	37	chr5	140215022	140215022	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acaatgctccacagttgactCtcacttccctgtctctccct	4	17	2	1	rs150063888		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:140215022C>A	ENST00000525929.1	+	1	1054	c.1054C>A	c.(1054-1056)Ctc>Atc	p.L352I	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L352I|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L352F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTGACTCTCACTTCCCT	0.507																																					p.L352I	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											PCDHA7,shoulder,malignant_melanoma,0,1	PCDHA7	367	1	1	Substitution - Missense(1)	skin(1)	c.C1054A						scavenged	.						181	157	165					5																	140215022		2203	4299	6502	SO:0001583	missense	56141	exon1			TTGACTCTCACTT	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1054C>A	5.37:g.140215022C>A	ENSP00000436426:p.Leu352Ile	Somatic	355	4	0.0112676		WXS	Illumina HiSeq	Phase_I	389	8	0.0205656	NM_031852	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912035	0.02415	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.61274	0.12;0.26	4.04	-1.41	0.08941	Cadherin (2);Cadherin-like (1);	0.343115	0.15286	N	0.270413	T	0.21347	0.0514	N	0.03268	-0.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.001	T	0.19877	-1.0292	10	0.05833	T	0.94	.	2.2003	0.03921	0.3512:0.1209:0.4122:0.1158	.	352;352	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	I	352	ENSP00000436426:L352I;ENSP00000367365:L352I	ENSP00000367365:L352I	L	+	1	0	PCDHA7	140195206	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-3.197000	0.00562	-0.656000	0.05380	0.305000	0.20034	CTC	.	.	alt		0.507	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215022	C	A	140215022	3	1	12	1	0	0	0	0	1	0	0	0	11529	913	32	4	1056	4	PCDHA7	5	140215022	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	954580	140215022	40700238	97	2861										
PCDHGB3	56102	hgsc.bcm.edu	37	chr5	140750729	140750729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aatgttgcagagaacctgccCgctggctcctccgtattaaa	9	12	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:140750729C>T	ENST00000576222.1	+	1	899	c.768C>T	c.(766-768)ccC>ccT	p.P256P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACCTGCCCGCTGGCTCCT	0.478																																					p.P256P		Atlas-SNP	.											PCDHGB3_ENST00000576222,NS,carcinoma,+1,2	PCDHGB3	168	2	0			c.C768T						scavenged	.						73	79	77					5																	140750729		2105	4234	6339	SO:0001819	synonymous_variant	56102	exon1			CCTGCCCGCTGGC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.768C>T	5.37:g.140750729C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	155	4	0.0258065	NM_018924	A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																			.	.	none		0.478	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140750729	C	T	140750729	2	4	12	1	0	0	0	0	0	0	0	1	11564	639	23	1		1	PCDHGB3	5	140750729	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	535707	140750729	40164531	98	2862										
ARAP3	64411	hgsc.bcm.edu	37	chr5	141033945	141033945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctcatacactggctcctcgtAcacaggctcctccagctcct	6	18	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr5:141033945A>G	ENST00000239440.4	-	33	4272	c.4207T>C	c.(4207-4209)Tac>Cac	p.Y1403H	FCHSD1_ENST00000519800.1_5'Flank|ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000508305.1_Missense_Mutation_p.Y1234H|ARAP3_ENST00000513878.1_Missense_Mutation_p.Y1052H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1403					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCTCCTCGTACACAGGCTCC	0.552																																					p.Y1403H		Atlas-SNP	.											.	ARAP3	139	.	0			c.T4207C						PASS	.						96	97	97					5																	141033945		2203	4300	6503	SO:0001583	missense	64411	exon33			CCTCGTACACAGG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4207T>C	5.37:g.141033945A>G	ENSP00000239440:p.Tyr1403His	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	36	0.461538	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300151	0.40694	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.14516	2.5;3.2;3.05	3.92	3.92	0.45320	.	0.405610	0.23234	N	0.050433	T	0.18882	0.0453	N	0.24115	0.695	0.34030	D	0.65374	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.75484	0.969;0.986;0.969	T	0.13629	-1.0502	10	0.20046	T	0.44	.	9.4487	0.38712	1.0:0.0:0.0:0.0	.	1052;1234;1403	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	1234;1403;1052	ENSP00000421826:Y1234H;ENSP00000239440:Y1403H;ENSP00000421468:Y1052H	ENSP00000239440:Y1403H	Y	-	1	0	ARAP3	141014129	0.997000	0.39634	0.998000	0.56505	0.502000	0.33828	2.505000	0.45424	1.983000	0.57843	0.482000	0.46254	TAC	.	.	none		0.552	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		G	141033945	A	G	141033945	3	3	12	1	0	0	0	0	1	0	0	0	840	391	14	2	431	2	ARAP3	5	141033945	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	283216	141033945	39881315	99	2863										
IRF4	3662	hgsc.bcm.edu	37	chr6	393224	393224	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agctgcggcaacgggaagctCcgccagtggctgatcgacca	14	13	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:393224C>T	ENST00000380956.4	+	2	198	c.72C>T	c.(70-72)ctC>ctT	p.L24L	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	24					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACGGGAAGCTCCGCCAGTGGC	0.701			T	IGH@	MM																																p.L24L		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C72T						PASS	.						31	32	32					6																	393224		2192	4288	6480	SO:0001819	synonymous_variant	3662	exon2			GAAGCTCCGCCAG	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.72C>T	6.37:g.393224C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	124	46	0.370968	NM_001195286	Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	CCDS4469.1																																																																																			.	.	none		0.701	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			T	393224	C	T	393224	2	4	12	1	0	0	0	0	0	0	0	1	7832	842	30	2		2	IRF4	6	393224	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10		393224	170721843	100	2864										
SSR1	6745	hgsc.bcm.edu	37	chr6	7313275	7313275	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcacactcccccagcctcacCtctggggccgcctcggaaca	9	20	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:7313275C>T	ENST00000244763.4	-	1	165	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	SSR1_ENST00000474597.1_Splice_Site_p.G27S|SSR1_ENST00000479365.1_Splice_Site_p.G27S|SSR1_ENST00000462112.1_Splice_Site_p.G27S|SSR1_ENST00000397511.2_Splice_Site_p.G27S|SSR1_ENST00000534851.1_Splice_Site_p.G27S|SSR1_ENST00000489567.1_Splice_Site_p.G27S|SSR1_ENST00000488834.1_Intron	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	27					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCAGCCTCACCTCTGGGGCCG	0.647																																					p.G27S		Atlas-SNP	.											.	SSR1	21	.	0			c.G79A						PASS	.						43	41	42					6																	7313275		2193	4282	6475	SO:0001630	splice_region_variant	6745	exon1			CCTCACCTCTGGG		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.79+1G>A	6.37:g.7313275C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_003144	A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040668	0.75732	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567;ENST00000479365;ENST00000462112	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.32	4.32	0.51571	.	0.133138	0.49305	D	0.000157	T	0.32556	0.0833	N	0.12569	0.235	0.49915	D	0.99983	P;D;P	0.62365	0.928;0.991;0.833	P;D;P	0.68621	0.756;0.959;0.677	T	0.21895	-1.0232	9	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	27;27;27	C9J5W0;C9JBX5;P43307	.;.;SSRA_HUMAN	S	27	ENSP00000418617:G27S;ENSP00000244763:G27S;ENSP00000380647:G27S;ENSP00000443020:G27S;ENSP00000420730:G27S;ENSP00000417911:G27S;ENSP00000417290:G27S	.	G	-	1	0	SSR1	7258274	1.000000	0.71417	0.997000	0.53966	0.595000	0.36748	2.096000	0.41738	2.089000	0.63090	0.462000	0.41574	GGC	.	.	none		0.647	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2		Missense_Mutation	T	7313275	C	T	7313275	5	4	12	1	0	0	0	0	0	0	1	0	15189	695	24	2	813	2	SSR1	6	7313275	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6920051	7313275	163801792	101	2865										
HIVEP1	3096	hgsc.bcm.edu	37	chr6	12124727	12124727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	accaattgcattgtcaggttTtcacttcaggcccatcttgc	7	12	4	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:12124727T>C	ENST00000379388.2	+	4	5031	c.4699T>C	c.(4699-4701)Ttc>Ctc	p.F1567L	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1567					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGTCAGGTTTTCACTTCAGG	0.413																																					p.F1567L		Atlas-SNP	.											HIVEP1,NS,carcinoma,-2,1	HIVEP1	242	1	0			c.T4699C						scavenged	.						147	139	141					6																	12124727		1908	4116	6024	SO:0001583	missense	3096	exon4			CAGGTTTTCACTT	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4699T>C	6.37:g.12124727T>C	ENSP00000368698:p.Phe1567Leu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	192	4	0.0208333	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	4.944	0.175382	0.09391	.	.	ENSG00000095951	ENST00000379388	T	0.05786	3.39	5.92	-0.739	0.11120	.	0.221517	0.23252	N	0.050235	T	0.00815	0.0027	N	0.05230	-0.09	0.46185	D	0.998912	B	0.02656	0.0	B	0.01281	0.0	T	0.41910	-0.9482	9	.	.	.	-7.1625	6.1833	0.20484	0.0:0.2879:0.2484:0.4638	.	1567	P15822	ZEP1_HUMAN	L	1567	ENSP00000368698:F1567L	.	F	+	1	0	HIVEP1	12232713	0.349000	0.24870	0.137000	0.22149	0.973000	0.67179	0.849000	0.27723	0.167000	0.19631	0.533000	0.62120	TTC	.	.	none		0.413	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12124727	T	C	12124727	3	2	12	1	0	0	0	0	1	0	0	0	7186	1841	64	2	4709	2	HIVEP1	6	12124727	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	4811452	12124727	158990340	102	2866										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327915	16327916	+	In_Frame_Ins	INS	-	-	TGC													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctgctgctgctgatgctgaINStgctgctgctgctgctgctg					rs11969612|rs369629396	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:16327915_16327916insTGC	ENST00000244769.4	-	8	1562_1563	c.626_627insGCA	c.(625-627)cat>caGCAt	p.208_209insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.208_209insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgctg	0.668																																					p.H209delinsQH		Atlas-Indel	.											ATXN1,colon,carcinoma,0,1	ATXN1	117	1	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_628insGCA						PASS	.																																			SO:0001652	inframe_insertion	6310	exon8			.	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626dupGCA	6.37:g.16327922_16327924dupTGC	ENSP00000244769:p.Gln209_Gln210dup	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	51	17	0.333333	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.	.	weak		0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327916	-	TGC	16327915	7	5	12	1	0	1	1	0	0	0	0	0	1209	330	12	0	1828	0	ATXN1	6	16327915	In_Frame_Ins	INS	-	TCGA-FF-8043-01A-11D-2210-10	4203188	16327915	154787152	103	2867										
SCAND3	114821	hgsc.bcm.edu	37	chr6	28540209	28540209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgttaaattatgaaacatgtCataacaatctgtagaaattc	5	5	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:28540209C>T	ENST00000452236.2	-	4	4074	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgaaacatgtcataacaatct	0.308																																					p.D1153N		Atlas-SNP	.											SCAND3,bladder,carcinoma,0,1	SCAND3	156	1	0			c.G3457A						scavenged	.						55	57	57					6																	28540209		2162	4285	6447	SO:0001583	missense	114821	exon4			ACATGTCATAACA																												ENST00000452236.2:c.3457G>A	6.37:g.28540209C>T	ENSP00000395259:p.Asp1153Asn	Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	242	3	0.0123967	NM_052923		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817218	0.50633	.	.	ENSG00000232040	ENST00000452236	T	0.41400	1.0	2.53	2.53	0.30540	Ribonuclease H-like (1);	0.554098	0.12119	U	0.497794	T	0.45377	0.1339	M	0.70275	2.135	0.26616	N	0.972744	D	0.57571	0.98	D	0.72338	0.977	T	0.12192	-1.0557	10	0.33141	T	0.24	.	8.7013	0.34327	0.0:1.0:0.0:0.0	.	1153	Q6R2W3	SCND3_HUMAN	N	1153	ENSP00000395259:D1153N	ENSP00000395259:D1153N	D	-	1	0	SCAND3	28648188	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.851000	0.39338	1.719000	0.51432	0.655000	0.94253	GAC	.	.	none		0.308	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			T	28540209	C	T	28540209	3	4	12	1	0	0	0	0	1	0	0	0	13876	826	29	2	524	2	SCAND3	6	28540209	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12212294	28540209	142574858	104	2868										
VARS2	57176	hgsc.bcm.edu	37	chr6	30893890	30893890	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttttctcctcgtccagctttCttccctccagctggaattgt	6	14	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:30893890C>T	ENST00000321897.5	+	29	3727	c.3095C>T	c.(3094-3096)tCt>tTt	p.S1032F	VARS2_ENST00000416670.2_Missense_Mutation_p.S1032F|VARS2_ENST00000541562.1_Missense_Mutation_p.S1062F|VARS2_ENST00000542001.1_Missense_Mutation_p.S892F|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	1032					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTCCAGCTTTCTTCCCTCCAG	0.617																																					p.S1062F		Atlas-SNP	.											.	VARS2	60	.	0			c.C3185T						PASS	.						63	65	64					6																	30893890		1510	2709	4219	SO:0001583	missense	57176	exon30			AGCTTTCTTCCCT	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.3095C>T	6.37:g.30893890C>T	ENSP00000316092:p.Ser1032Phe	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	307	128	0.416938	NM_001167734	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461584	0.63513	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.70595	2.14	0.37604	D	0.920671	D;D;D;D	0.76494	0.983;0.998;0.999;0.998	P;D;D;D	0.85130	0.837;0.994;0.997;0.994	T	0.50448	-0.8827	10	0.72032	D	0.01	-21.6103	15.561	0.76244	0.0:1.0:0.0:0.0	.	470;1030;1062;1032	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	F	1032;1032;892;1062	ENSP00000316092:S1032F;ENSP00000394802:S1032F;ENSP00000438200:S892F;ENSP00000441000:S1062F	ENSP00000316092:S1032F	S	+	2	0	VARS2	31001869	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.549000	0.53681	2.755000	0.94549	0.655000	0.94253	TCT	.	.	none		0.617	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30893890	C	T	30893890	3	4	12	1	0	0	0	0	1	0	0	0	17121	913	32	2	3303	2	VARS2	6	30893890	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2353681	30893890	140221177	105	2869										
ZBTB22	9278	hgsc.bcm.edu	37	chr6	33283277	33283277	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actgccagtccctccagggaCcccaccaacgctacccggca	8	20	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:33283277C>G	ENST00000431845.2	-	2	1568	c.1417G>C	c.(1417-1419)Gtc>Ctc	p.V473L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.V473L|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCTCCAGGGACCCCACCAACG	0.642																																					p.V473L		Atlas-SNP	.											.	ZBTB22	48	.	0			c.G1417C						PASS	.						131	145	141					6																	33283277		2203	4300	6503	SO:0001583	missense	9278	exon2			CAGGGACCCCACC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1417G>C	6.37:g.33283277C>G	ENSP00000407545:p.Val473Leu	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_001145338	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.332545	0.00227	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.04970	3.52;3.52	4.11	-1.01	0.10169	.	1.112010	0.07113	N	0.842560	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48246	-0.9052	10	0.27082	T	0.32	.	8.6065	0.33775	0.0:0.3929:0.0:0.6071	.	473	O15209	ZBT22_HUMAN	L	473	ENSP00000404403:V473L;ENSP00000407545:V473L	ENSP00000404403:V473L	V	-	1	0	ZBTB22	33391255	0.000000	0.05858	0.011000	0.14972	0.025000	0.11179	-0.980000	0.03770	-0.115000	0.11915	0.448000	0.29417	GTC	.	.	none		0.642	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			G	33283277	C	G	33283277	3	3	12	1	0	0	0	0	1	0	0	0	17527	507	18	4	491	4	ZBTB22	6	33283277	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2389387	33283277	137831790	106	2870										
DST	667	hgsc.bcm.edu	37	chr6	56374517	56374517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgtttaagagtttcatacAacggctgtagcttttccatg	8	8	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:56374517A>G	ENST00000361203.3	-	69	17982	c.17975T>C	c.(17974-17976)tTg>tCg	p.L5992S	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.L6103S|DST_ENST00000421834.2_Missense_Mutation_p.L4015S|DST_ENST00000446842.2_Missense_Mutation_p.L5777S|DST_ENST00000370788.2_Missense_Mutation_p.L3906S|DST_ENST00000370754.5_Missense_Mutation_p.L6281S|DST_ENST00000244364.6_Missense_Mutation_p.L3689S|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5993					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTCATACAACGGCTGTAG	0.428																																					p.L3689S		Atlas-SNP	.											.	DST	1427	.	0			c.T11066C						PASS	.						118	109	112					6																	56374517		1872	4115	5987	SO:0001583	missense	667	exon55			TCATACAACGGCT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17975T>C	6.37:g.56374517A>G	ENSP00000354508:p.Leu5992Ser	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	239	94	0.393305	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	11.64	1.698379	0.30142	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.76	5.76	0.90799	.	0.185737	0.24242	N	0.040256	T	0.25827	0.0629	N	0.04880	-0.145	0.28311	N	0.922675	D;B;B;B;B	0.53745	0.962;0.201;0.104;0.016;0.007	P;B;B;B;B	0.58077	0.832;0.2;0.059;0.034;0.01	T	0.14200	-1.0481	9	0.08179	T	0.78	.	16.0663	0.80878	1.0:0.0:0.0:0.0	.	4015;6103;6281;6101;3689	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	3689;6281;6103;4015;5777;3906;5992;105	ENSP00000244364:L3689S;ENSP00000359790:L6281S;ENSP00000359805:L6103S;ENSP00000400883:L4015S;ENSP00000393645:L5777S;ENSP00000359824:L3906S;ENSP00000354508:L5992S	ENSP00000244364:L3689S	L	-	2	0	DST	56482476	0.160000	0.22878	0.882000	0.34594	0.831000	0.47069	3.609000	0.54117	2.196000	0.70406	0.533000	0.62120	TTG	.	.	none		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56374517	A	G	56374517	3	3	12	1	0	0	0	0	1	0	0	0	4783	131	5	2	4569	2	DST	6	56374517	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	23091240	56374517	114740550	107	2871										
EYS	346007	hgsc.bcm.edu	37	chr6	65612316	65612316	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctgaaattgttgaccatatCttcacagtcaccataatcct	4	12	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:65612316C>A	ENST00000370621.3	-	17	3245	c.2719G>T	c.(2719-2721)Gat>Tat	p.D907Y	EYS_ENST00000370616.2_Missense_Mutation_p.D907Y|EYS_ENST00000503581.1_Missense_Mutation_p.D907Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	907	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACCATATCTTCACAGTCA	0.333																																					p.D907Y		Atlas-SNP	.											EYS_ENST00000370621,NS,carcinoma,+2,1	EYS	527	1	0			c.G2719T						PASS	.						151	125	133					6																	65612316		692	1591	2283	SO:0001583	missense	346007	exon17			CCATATCTTCACA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2719G>T	6.37:g.65612316C>A	ENSP00000359655:p.Asp907Tyr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	98	43	0.438776	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	5.293	0.239526	0.10023	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.95656	-3.77;-3.77;-3.77	4.36	1.38	0.22167	.	.	.	.	.	D	0.93099	0.7803	M	0.94142	3.5	0.80722	D	1	B	0.18741	0.03	B	0.23419	0.046	D	0.88285	0.2939	9	0.87932	D	0	.	4.268	0.10773	0.1613:0.5952:0.156:0.0876	.	907	Q5T1H1-1	.	Y	907	ENSP00000424243:D907Y;ENSP00000359655:D907Y;ENSP00000359650:D907Y	ENSP00000359650:D907Y	D	-	1	0	EYS	65669037	1.000000	0.71417	0.010000	0.14722	0.116000	0.19942	2.134000	0.42102	0.034000	0.15491	-0.218000	0.12543	GAT	.	.	none		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65612316	C	A	65612316	3	1	12	1	0	0	0	0	1	0	0	0	5332	913	32	4	6668	4	EYS	6	65612316	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9237799	65612316	105502751	108	2872										
SENP6	26054	hgsc.bcm.edu	37	chr6	76357488	76357488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccaaaaagttgaaattaatcCtgtaaggttaagtcggctcc	8	8	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:76357488C>T	ENST00000447266.2	+	7	999	c.521C>T	c.(520-522)cCt>cTt	p.P174L	SENP6_ENST00000370010.2_Missense_Mutation_p.P167L|SENP6_ENST00000436928.3_3'UTR|SENP6_ENST00000327284.8_Missense_Mutation_p.P167L|SENP6_ENST00000370014.3_Missense_Mutation_p.P174L	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	174					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)				GAAATTAATCCTGTAAGGTTA	0.333																																					p.P174L		Atlas-SNP	.											SENP6_ENST00000447266,NS,carcinoma,0,2	SENP6	189	2	0			c.C521T						scavenged	.						91	83	86					6																	76357488		1821	4076	5897	SO:0001583	missense	26054	exon7			TTAATCCTGTAAG		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.521C>T	6.37:g.76357488C>T	ENSP00000402527:p.Pro174Leu	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	158	5	0.0316456	NM_015571	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	5.985	0.365740	0.11352	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.45	2.55	0.30701	.	0.691947	0.14256	N	0.331129	T	0.09818	0.0241	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.12400	-1.0549	10	0.29301	T	0.29	-0.1767	1.4367	0.02345	0.2313:0.4507:0.1409:0.1771	.	167;174;167	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	L	167;174;171;167;174;64;64	ENSP00000359027:P167L;ENSP00000359031:P174L;ENSP00000321820:P167L;ENSP00000402527:P174L;ENSP00000426480:P64L;ENSP00000391426:P64L	ENSP00000321820:P167L	P	+	2	0	SENP6	76414208	0.142000	0.22610	0.960000	0.40013	0.981000	0.71138	0.368000	0.20399	1.442000	0.47568	0.650000	0.86243	CCT	.	.	none		0.333	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		T	76357488	C	T	76357488	3	4	12	1	0	0	0	0	1	0	0	0	14050	681	24	2	547	2	SENP6	6	76357488	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	10745172	76357488	94757579	109	2873										
SMPD2	6610	hgsc.bcm.edu	37	chr6	109764054	109764054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctgaaggagtggacagggctTcatgatgcctatcttgaaac	12	8	2	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:109764054T>C	ENST00000258052.3	+	7	950	c.591T>C	c.(589-591)ctT>ctC	p.L197L	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	197					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGACAGGGCTTCATGATGCCT	0.552																																					p.L197L		Atlas-SNP	.											SMPD2,NS,carcinoma,+2,1	SMPD2	25	1	0			c.T591C						scavenged	.						166	128	141					6																	109764054		2203	4300	6503	SO:0001819	synonymous_variant	6610	exon7			AGGGCTTCATGAT	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.591T>C	6.37:g.109764054T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	81	2	0.0246914	NM_003080	Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.934335	0.00488	.	.	ENSG00000135587	ENST00000458487	.	.	.	5.43	-1.0	0.10196	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.28427	-1.0044	4	.	.	.	-11.6778	0.3184	0.00299	0.2239:0.2264:0.2194:0.3302	.	.	.	.	S	94	.	.	F	+	2	0	SMPD2	109870747	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-0.554000	0.06006	-0.672000	0.05266	-3.170000	0.00057	TTC	.	.	none		0.552	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			C	109764054	T	C	109764054	2	2	12	1	0	0	0	0	0	0	0	1	14805	1770	62	2		2	SMPD2	6	109764054	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	33406566	109764054	61351013	110	2874										
GJA1	2697	hgsc.bcm.edu	37	chr6	121768112	121768112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aatcctgctgctggggacagCggttgagtcagcctggggag	17	9	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:121768112C>T	ENST00000282561.3	+	2	276	c.119C>T	c.(118-120)gCg>gTg	p.A40V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	40			A -> V (in ODDD). {ECO:0000269|PubMed:12457340, ECO:0000269|PubMed:14729836, ECO:0000269|PubMed:16378922, ECO:0000269|PubMed:19338053}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGGGGACAGCGGTTGAGTCA	0.493																																					p.A40V		Atlas-SNP	.											GJA1,caecum,carcinoma,0,1	GJA1	61	1	0			c.C119T	GRCh37	CM030456	GJA1	M		scavenged	.						111	100	104					6																	121768112		2203	4300	6503	SO:0001583	missense	2697	exon2			GGACAGCGGTTGA	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.119C>T	6.37:g.121768112C>T	ENSP00000282561:p.Ala40Val	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	241	3	0.0124481	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223569	0.79576	.	.	ENSG00000152661	ENST00000282561	D	0.99176	-5.52	6.16	6.16	0.99307	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99903	1.1170	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	40	P17302	CXA1_HUMAN	V	40	ENSP00000282561:A40V	ENSP00000282561:A40V	A	+	2	0	GJA1	121809811	1.000000	0.71417	0.958000	0.39756	0.114000	0.19823	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GCG	.	.	weak		0.493	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		T	121768112	C	T	121768112	3	4	12	1	0	0	0	0	1	0	0	0	6400	768	27	1	121	1	GJA1	6	121768112	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12004058	121768112	49346955	111	2875										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152590378	152590378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggacgccggggctctgcgtgGctgttaggtcaacatcgctc	15	12	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:152590378G>A	ENST00000367255.5	-	99	19218	c.18617C>T	c.(18616-18618)gCc>gTc	p.A6206V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A5818V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A6135V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A730V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A6206V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A6135V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6206					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A6206V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGCGTGGCTGTTAGGTC	0.537										HNSCC(10;0.0054)																											p.A6206V		Atlas-SNP	.											SYNE1_ENST00000265368,colon,carcinoma,0,2	SYNE1	3227	2	2	Substitution - Missense(2)	large_intestine(2)	c.C18617T						scavenged	.						160	124	136					6																	152590378		2203	4300	6503	SO:0001583	missense	23345	exon99			TGCGTGGCTGTTA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18617C>T	6.37:g.152590378G>A	ENSP00000356224:p.Ala6206Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269841	0.40095	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54675	0.65;0.64;0.56;0.64;0.75;1.01	5.57	3.75	0.43078	.	0.313714	0.27270	N	0.020123	T	0.28234	0.0697	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28055	0.075;0.075;0.199	B;B;B	0.30572	0.055;0.055;0.117	T	0.14839	-1.0458	10	0.29301	T	0.29	.	13.1112	0.59275	0.0:0.1229:0.7491:0.128	.	6206;6206;6135	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6206;6135;6206;6135;5818;730	ENSP00000356224:A6206V;ENSP00000396024:A6135V;ENSP00000265368:A6206V;ENSP00000390975:A6135V;ENSP00000341887:A5818V;ENSP00000349276:A730V	ENSP00000265368:A6206V	A	-	2	0	SYNE1	152632071	1.000000	0.71417	0.002000	0.10522	0.290000	0.27261	5.995000	0.70631	0.786000	0.33708	0.655000	0.94253	GCC	.	.	none		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152590378	G	A	152590378	3	1	12	1	0	0	0	0	1	0	0	0	15442	1203	42	2	8041	2	SYNE1	6	152590378	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	30822266	152590378	18524689	112	2876										
WTAP	9589	hgsc.bcm.edu	37	chr6	160174529	160174529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	taatggcgaagtgtcgaatgCttatccaggagaatcaagag	12	6	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:160174529C>T	ENST00000358372.4	+	7	2247	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	164					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.M163_L164delML(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTGTCGAATGCTTATCCAGGA	0.438																																					p.L164F		Atlas-SNP	.											WTAP,bladder,carcinoma,-1,1	WTAP	44	1	1	Deletion - In frame(1)	prostate(1)	c.C490T						scavenged	.						125	118	120					6																	160174529		2203	4300	6503	SO:0001583	missense	9589	exon7			CGAATGCTTATCC	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.490C>T	6.37:g.160174529C>T	ENSP00000351141:p.Leu164Phe	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_001270531	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912862	0.92178	.	.	ENSG00000146457	ENST00000358372	T	0.62941	-0.01	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.80341	-0.1423	10	0.59425	D	0.04	0.4661	15.8758	0.79159	0.0:0.9348:0.0:0.0652	.	164;164	A8K489;Q15007	.;FL2D_HUMAN	F	164	ENSP00000351141:L164F	ENSP00000351141:L164F	L	+	1	0	WTAP	160094519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.954000	0.63631	2.941000	0.99782	0.655000	0.94253	CTT	.	.	none		0.438	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		T	160174529	C	T	160174529	3	4	12	1	0	0	0	0	1	0	0	0	17406	797	28	2	516	2	WTAP	6	160174529	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7584151	160174529	10940538	113	2877										
PACRG	135138	hgsc.bcm.edu	37	chr6	163735921	163735921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agaacattggggacttgatcCaggagacactggaggccttc	13	9	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr6:163735921C>T	ENST00000337019.3	+	7	1017	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q226*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q226*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	265					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGACTTGATCCAGGAGACACT	0.498																																					p.Q265X		Atlas-SNP	.											PACRG,larynx,carcinoma,-2,1	PACRG	48	1	0			c.C793T						scavenged	.						141	125	131					6																	163735921		2203	4300	6503	SO:0001587	stop_gained	135138	exon7			TTGATCCAGGAGA	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.793C>T	6.37:g.163735921C>T	ENSP00000337946:p.Gln265*	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_152410	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	C	37	6.332139	0.97480	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	.	.	.	5.87	5.87	0.94306	.	0.190704	0.47093	D	0.000241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-29.4042	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	265;226;226	.	ENSP00000337946:Q265X	Q	+	1	0	PACRG	163655911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.473000	0.45145	2.941000	0.99782	0.655000	0.94253	CAG	.	.	none		0.498	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		T	163735921	C	T	163735921	4	4	12	1	0	0	0	0	0	1	0	0	11370	595	21	2	815	2	PACRG	6	163735921	Nonsense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3561392	163735921	7379146	114	2878										
DGKB	1607	hgsc.bcm.edu	37	chr7	14217692	14217692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agcactgagccagccgccggCcagcacttttcaggcctgtg	12	15	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:14217692C>A	ENST00000403951.2	-	24	2629	c.2210G>T	c.(2209-2211)gGc>gTc	p.G737V	DGKB_ENST00000399322.3_Missense_Mutation_p.G737V|DGKB_ENST00000407950.1_Missense_Mutation_p.G729V|DGKB_ENST00000402815.1_Missense_Mutation_p.G736V|DGKB_ENST00000406247.3_Missense_Mutation_p.G737V|DGKB_ENST00000258767.5_Missense_Mutation_p.G737V|DGKB_ENST00000444700.2_Missense_Mutation_p.G718V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	737					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G737V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAGCCGCCGGCCAGCACTTTT	0.502																																					p.G737V		Atlas-SNP	.											DGKB,NS,carcinoma,0,1	DGKB	166	1	1	Substitution - Missense(1)	lung(1)	c.G2210T						PASS	.						62	71	68					7																	14217692		2108	4277	6385	SO:0001583	missense	1607	exon23			CGCCGGCCAGCAC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2210G>T	7.37:g.14217692C>A	ENSP00000385780:p.Gly737Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	48	17	0.354167	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637047	0.87760	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.8	5.8	0.92144	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79108	0.991;0.99;0.987;0.992	T	0.81297	-0.0996	10	0.87932	D	0	.	19.6455	0.95775	0.0:1.0:0.0:0.0	.	736;718;737;737	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	V	737;737;737;736;729;718;737	ENSP00000385780:G737V;ENSP00000382260:G737V;ENSP00000258767:G737V;ENSP00000384909:G736V;ENSP00000385031:G729V;ENSP00000388451:G718V;ENSP00000386066:G737V	ENSP00000258767:G737V	G	-	2	0	DGKB	14184217	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	5.812000	0.69194	2.739000	0.93911	0.561000	0.74099	GGC	.	.	none		0.502	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14217692	C	A	14217692	3	1	12	1	0	0	0	0	1	0	0	0	4466	739	26	4	231	4	DGKB	7	14217692	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		14217692	144920971	115	2879										
DGKB	1607	hgsc.bcm.edu	37	chr7	14378196	14378196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggtggtccttttgtcagacCcttttttctctattcgtcga	8	11	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:14378196C>A	ENST00000403951.2	-	23	2488	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V	DGKB_ENST00000399322.3_Missense_Mutation_p.G690V|DGKB_ENST00000407950.1_Missense_Mutation_p.G682V|DGKB_ENST00000402815.1_Missense_Mutation_p.G689V|DGKB_ENST00000406247.3_Missense_Mutation_p.G690V|DGKB_ENST00000258767.5_Missense_Mutation_p.G690V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.G671V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	690					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G690V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTTGTCAGACCCTTTTTTCTC	0.398																																					p.G690V		Atlas-SNP	.											DGKB,NS,carcinoma,0,1	DGKB	166	1	1	Substitution - Missense(1)	lung(1)	c.G2069T						PASS	.						192	177	182					7																	14378196		1852	4091	5943	SO:0001583	missense	1607	exon22			TCAGACCCTTTTT	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2069G>T	7.37:g.14378196C>A	ENSP00000385780:p.Gly690Val	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	180	64	0.355556	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387379	0.25031	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.80480	-1.3;-1.3;-1.3;-1.3;-1.3;-1.29;-1.38	5.5	4.62	0.57501	Diacylglycerol kinase, accessory domain (2);	0.442134	0.23977	N	0.042716	T	0.65439	0.2691	N	0.17082	0.46	0.48975	D	0.999736	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.0	T	0.58875	-0.7559	10	0.29301	T	0.29	.	10.1713	0.42911	0.0:0.8495:0.0:0.1505	.	689;671;690;690	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	V	690;690;690;689;682;671;690	ENSP00000385780:G690V;ENSP00000382260:G690V;ENSP00000258767:G690V;ENSP00000384909:G689V;ENSP00000385031:G682V;ENSP00000388451:G671V;ENSP00000386066:G690V	ENSP00000258767:G690V	G	-	2	0	DGKB	14344721	0.684000	0.27642	0.995000	0.50966	0.989000	0.77384	1.375000	0.34295	1.313000	0.45069	0.650000	0.86243	GGG	.	.	none		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14378196	C	A	14378196	3	1	12	1	0	0	0	0	1	0	0	0	4466	623	22	4	376	4	DGKB	7	14378196	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	160504	14378196	144760467	116	2880										
FKBP9	11328	hgsc.bcm.edu	37	chr7	33014908	33014908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caagcccccgagttgccctcGgaccatccaggtgtctgatt	10	15	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:33014908G>A	ENST00000242209.4	+	3	651	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP9_ENST00000538336.1_Missense_Mutation_p.R214Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.R23Q|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	161					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGTTGCCCTCGGACCATCCAG	0.473																																					p.R161Q		Atlas-SNP	.											FKBP9,brain,glioma,0,9	FKBP9	335	9	0			c.G482A						scavenged	.						99	87	91					7																	33014908		2203	4300	6503	SO:0001583	missense	11328	exon3			GCCCTCGGACCAT	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.482G>A	7.37:g.33014908G>A	ENSP00000242209:p.Arg161Gln	Somatic	137	4	0.0291971		WXS	Illumina HiSeq	Phase_I	110	7	0.0636364	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720086	0.89205	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	D;D;D	0.86164	-2.08;-2.08;-2.08	5.36	5.36	0.76844	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92752	0.6217	10	0.56958	D	0.05	-4.2611	19.0957	0.93249	0.0:0.0:1.0:0.0	.	214;161;161	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	Q	161;214;23	ENSP00000242209:R161Q;ENSP00000439250:R214Q;ENSP00000437504:R23Q	ENSP00000242209:R161Q	R	+	2	0	FKBP9	32981433	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	9.809000	0.99208	2.524000	0.85096	0.650000	0.86243	CGG	.	.	none		0.473	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33014908	G	A	33014908	3	1	12	1	0	0	0	0	1	0	0	0	5915	1116	39	1	492	1	FKBP9	7	33014908	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	18636712	33014908	126123755	117	2881										
VPS41	27072	hgsc.bcm.edu	37	chr7	38783071	38783071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atcttgctccttggcaaattCgattgctttatcaacatcat	5	10	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:38783071C>T	ENST00000310301.4	-	24	2107	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	VPS41_ENST00000395969.2_Missense_Mutation_p.E660K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	685					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTGGCAAATTCGATTGCTTTA	0.418																																					p.E685K		Atlas-SNP	.											VPS41,NS,carcinoma,0,1	VPS41	102	1	0			c.G2053A						scavenged	.						155	142	146					7																	38783071		2203	4300	6503	SO:0001583	missense	27072	exon24			CAAATTCGATTGC	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.2053G>A	7.37:g.38783071C>T	ENSP00000309457:p.Glu685Lys	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	184	3	0.0163043	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607939	0.96626	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000439468	T;T;T	0.24151	1.87;1.87;1.87	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);	0.187255	0.56097	D	0.000035	T	0.34629	0.0904	M	0.76328	2.33	0.80722	D	1	P;P;P	0.36944	0.574;0.574;0.574	B;B;B	0.35073	0.195;0.195;0.195	T	0.09729	-1.0661	10	0.37606	T	0.19	-18.6971	20.3116	0.98642	0.0:1.0:0.0:0.0	.	685;660;685	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	K	685;660;26	ENSP00000309457:E685K;ENSP00000379297:E660K;ENSP00000395410:E26K	ENSP00000309457:E685K	E	-	1	0	VPS41	38749596	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.082000	0.71318	2.890000	0.99128	0.650000	0.86243	GAA	.	.	none		0.418	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38783071	C	T	38783071	3	4	12	1	0	0	0	0	1	0	0	0	17207	893	31	1	535	1	VPS41	7	38783071	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	5768163	38783071	120355592	118	2882										
MAGI2	9863	hgsc.bcm.edu	37	chr7	77885700	77885700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgtgtcttccattgaccatcActggaggtggcctctccatt	9	12	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:77885700A>G	ENST00000354212.4	-	10	1860	c.1607T>C	c.(1606-1608)gTg>gCg	p.V536A	MAGI2_ENST00000522391.1_Missense_Mutation_p.V536A|MAGI2_ENST00000535697.1_Missense_Mutation_p.V373A|MAGI2_ENST00000536571.1_Missense_Mutation_p.V368A|MAGI2_ENST00000419488.1_Missense_Mutation_p.V536A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	536					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTGACCATCACTGGAGGTGG	0.493																																					p.V536A		Atlas-SNP	.											.	MAGI2	246	.	0			c.T1607C						PASS	.						101	83	89					7																	77885700		2203	4300	6503	SO:0001583	missense	9863	exon10			ACCATCACTGGAG	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1607T>C	7.37:g.77885700A>G	ENSP00000346151:p.Val536Ala	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	278	124	0.446043	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751936	0.49362	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10573	2.96;2.96;2.86;3.81;3.82	5.93	4.75	0.60458	.	0.229068	0.20981	U	0.082212	T	0.12178	0.0296	L	0.36672	1.1	0.39497	D	0.96814	P;B;B;B;B;B	0.39601	0.68;0.312;0.038;0.038;0.059;0.08	B;B;B;B;B;B	0.41412	0.356;0.356;0.02;0.02;0.064;0.025	T	0.04268	-1.0964	10	0.56958	D	0.05	.	12.5202	0.56054	0.8606:0.1394:0.0:0.0	.	373;368;536;536;536;536	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	A	536;536;536;536;368;373	ENSP00000405766:V536A;ENSP00000346151:V536A;ENSP00000428389:V536A;ENSP00000441584:V368A;ENSP00000441603:V373A	ENSP00000346151:V536A	V	-	2	0	MAGI2	77723636	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	5.314000	0.65804	1.031000	0.39867	0.454000	0.30748	GTG	.	.	none		0.493	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		G	77885700	A	G	77885700	3	3	12	1	0	0	0	0	1	0	0	0	9191	159	6	2	2812	2	MAGI2	7	77885700	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	39102629	77885700	81252963	119	2883										
MEPCE	56257	hgsc.bcm.edu	37	chr7	100028914	100028914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	attgcaaatactatgggtacCgcaatccttcctgtgaggat	9	9	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:100028914C>T	ENST00000310512.2	+	1	1661	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	425					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTATGGGTACCGCAATCCTTC	0.577																																					p.R425C		Atlas-SNP	.											MEPCE,NS,carcinoma,-1,1	MEPCE	52	1	0			c.C1273T						scavenged	.						70	67	68					7																	100028914		2203	4300	6503	SO:0001583	missense	56257	exon1			GGGTACCGCAATC	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1273C>T	7.37:g.100028914C>T	ENSP00000308546:p.Arg425Cys	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	214	3	0.0140187	NM_019606	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888094	0.72524	.	.	ENSG00000146834	ENST00000310512	T	0.49720	0.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.71810	-0.4480	10	0.87932	D	0	-4.6562	15.4512	0.75274	0.0:1.0:0.0:0.0	.	425	Q7L2J0	MEPCE_HUMAN	C	425	ENSP00000308546:R425C	ENSP00000308546:R425C	R	+	1	0	MEPCE	99866850	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.363000	0.66104	2.508000	0.84585	0.462000	0.41574	CGC	.	.	none		0.577	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			T	100028914	C	T	100028914	3	4	12	1	0	0	0	0	1	0	0	0	9477	652	23	1	1275	1	MEPCE	7	100028914	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	22143214	100028914	59109749	120	2884										
BCAP29	55973	hgsc.bcm.edu	37	chr7	107221236	107221236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaatgacactccaatgggctGcagtggcaacctttctttat	8	10	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:107221236G>A	ENST00000005259.4	+	2	358	c.19G>A	c.(19-21)Gca>Aca	p.A7T	RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000445771.2_Missense_Mutation_p.A7T|BCAP29_ENST00000379117.2_Missense_Mutation_p.A7T|BCAP29_ENST00000379119.2_Missense_Mutation_p.A7T|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000465919.1_Intron	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	7					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CCAATGGGCTGCAGTGGCAAC	0.413																																					p.A7T		Atlas-SNP	.											.	BCAP29	46	.	0			c.G19A						PASS	.						104	93	97					7																	107221236		2203	4300	6503	SO:0001583	missense	55973	exon2			TGGGCTGCAGTGG		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.19G>A	7.37:g.107221236G>A	ENSP00000005259:p.Ala7Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	123	42	0.341463	NM_018844	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600874	0.87055	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000473124;ENST00000379119	.	.	.	4.63	4.63	0.57726	.	0.054140	0.64402	D	0.000001	T	0.78886	0.4354	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.68943	0.91;0.961;0.961	T	0.80379	-0.1407	9	0.48119	T	0.1	-14.1844	16.2143	0.82195	0.0:0.0:1.0:0.0	.	7;7;7	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	T	7	.	ENSP00000005259:A7T	A	+	1	0	BCAP29	107008472	1.000000	0.71417	0.932000	0.37286	0.854000	0.48673	7.886000	0.87288	2.548000	0.85928	0.655000	0.94253	GCA	.	.	none		0.413	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		A	107221236	G	A	107221236	3	1	12	1	0	0	0	0	1	0	0	0	1346	1319	46	2	21	2	BCAP29	7	107221236	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	7192322	107221236	51917427	121	2885										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121650463	121650463	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acagtgctacaaaccaaatcAggaaaaaggaaccccagatt	7	10	1	1	rs199595173	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:121650463A>C	ENST00000393386.2	+	12	1774	c.1363A>C	c.(1363-1365)Agg>Cgg	p.R455R	PTPRZ1_ENST00000449182.1_Silent_p.R455R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	455					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAACCAAATCAGGAAAAAGGA	0.423													A|||	6	0.00119808	0.0	0.0	5008	,	,		18694	0.0		0.0	False		,,,				2504	0.0061				p.R455R		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.A1363C						PASS	.						153	143	146					7																	121650463		2203	4300	6503	SO:0001819	synonymous_variant	5803	exon12			CAAATCAGGAAAA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1363A>C	7.37:g.121650463A>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_001206838	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																			A|0.999;C|0.001	0.001	weak		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121650463	A	C	121650463	2	2	12	1	0	0	0	0	0	0	0	1	12814	179	7	5		5	PTPRZ1	7	121650463	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	14429227	121650463	37488200	122	2886										
SMO	6608	hgsc.bcm.edu	37	chr7	128846041	128846041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctttgtcatcgtgtactacgCcctgatggctggtgtggttt	12	9	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:128846041C>T	ENST00000249373.3	+	5	1251	c.971C>T	c.(970-972)gCc>gTc	p.A324V		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	324					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTGTACTACGCCCTGATGGCT	0.562			Mis		skin basal cell																																p.A324V		Atlas-SNP	.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	SMO,bile_duct,carcinoma,+1,4	SMO	145	4	0			c.C971T						scavenged	.						335	279	298					7																	128846041		2203	4300	6503	SO:0001583	missense	6608	exon5			ACTACGCCCTGAT	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.971C>T	7.37:g.128846041C>T	ENSP00000249373:p.Ala324Val	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	370	4	0.0108108	NM_005631	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162365	0.38217	.	.	ENSG00000128602	ENST00000249373	D	0.81739	-1.53	5.54	4.66	0.58398	GPCR, family 2-like (1);	0.213831	0.49916	D	0.000133	T	0.71550	0.3353	N	0.22421	0.69	0.41172	D	0.986173	B	0.25441	0.126	B	0.31946	0.138	T	0.68849	-0.5300	10	0.44086	T	0.13	.	13.2067	0.59800	0.1593:0.8407:0.0:0.0	.	324	Q99835	SMO_HUMAN	V	324	ENSP00000249373:A324V	ENSP00000249373:A324V	A	+	2	0	SMO	128633277	1.000000	0.71417	0.994000	0.49952	0.273000	0.26683	7.783000	0.85696	1.319000	0.45190	-0.324000	0.08512	GCC	.	.	none		0.562	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		T	128846041	C	T	128846041	3	4	12	1	0	0	0	0	1	0	0	0	14800	739	26	2	989	2	SMO	7	128846041	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7195578	128846041	30292622	123	2887										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	132174144	132174144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtcatgcggtccctgtcctcCgtgaagacgggaattccacg	12	13	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:132174144C>T	ENST00000359827.3	-	3	2240	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	PLXNA4_ENST00000378539.5_Silent_p.T426T|PLXNA4_ENST00000321063.4_Silent_p.T426T|PLXNA4_ENST00000423507.2_Silent_p.T426T			Q9HCM2	PLXA4_HUMAN	plexin A4	426	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCTGTCCTCCGTGAAGACGG	0.512																																					p.T426T		Atlas-SNP	.											.	PLXNA4	873	.	0			c.G1278A						PASS	.						115	94	101					7																	132174144		2203	4300	6503	SO:0001819	synonymous_variant	91584	exon3			GTCCTCCGTGAAG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1278G>A	7.37:g.132174144C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	132	57	0.431818	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.	.	none		0.512	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	132174144	C	T	132174144	2	4	12	1	0	0	0	0	0	0	0	1	12122	639	23	1		1	PLXNA4	7	132174144	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3328103	132174144	26964519	124	2888										
CUL1	8454	hgsc.bcm.edu	37	chr7	148486911	148486911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtcttgtacatttgccttgcCgtcagaggtaaggatgggtt	13	7	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr7:148486911C>T	ENST00000325222.4	+	15	1946	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	CUL1_ENST00000409469.1_Missense_Mutation_p.P556L|CUL1_ENST00000602748.1_Missense_Mutation_p.P556L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTGCCTTGCCGTCAGAGGTA	0.572																																					p.P556L		Atlas-SNP	.											CUL1,NS,carcinoma,0,1	CUL1	80	1	0			c.C1667T						scavenged	.						147	142	144					7																	148486911		2203	4300	6503	SO:0001583	missense	8454	exon15			CCTTGCCGTCAGA	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1667C>T	7.37:g.148486911C>T	ENSP00000326804:p.Pro556Leu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	138	3	0.0217391	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757262	0.69648	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.93547	-3.24;-3.24	5.08	5.08	0.68730	Cullin, N-terminal (1);Cullin homology (3);	0.108726	0.64402	D	0.000005	D	0.98169	0.9395	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99824	1.1049	10	0.87932	D	0	-15.6332	18.4804	0.90809	0.0:1.0:0.0:0.0	.	483;556	E7EWR0;Q13616	.;CUL1_HUMAN	L	556;556;514;483	ENSP00000387160:P556L;ENSP00000326804:P556L	ENSP00000326804:P556L	P	+	2	0	CUL1	148117844	1.000000	0.71417	0.940000	0.37924	0.155000	0.21991	7.354000	0.79424	2.359000	0.80004	0.591000	0.81541	CCG	.	.	none		0.572	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		T	148486911	C	T	148486911	3	4	12	1	0	0	0	0	1	0	0	0	4054	652	23	1	1721	1	CUL1	7	148486911	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	16312767	148486911	10651752	125	2889										
CSMD1	64478	hgsc.bcm.edu	37	chr8	3141793	3141793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctccactccttcagcaggatGtcactgtccaccggcccgtc	8	18	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:3141793G>A	ENST00000520002.1	-	27	4584	c.4029C>T	c.(4027-4029)gaC>gaT	p.D1343D	CSMD1_ENST00000537824.1_Silent_p.D1342D|CSMD1_ENST00000602723.1_Silent_p.D1343D|CSMD1_ENST00000400186.3_Silent_p.D1343D|CSMD1_ENST00000542608.1_Silent_p.D1342D|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.D1343D|CSMD1_ENST00000539096.1_Silent_p.D1342D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1343	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGCAGGATGTCACTGTCCA	0.562											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D1342D		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C4026T						PASS	.						99	107	104					8																	3141793		2131	4245	6376	SO:0001819	synonymous_variant	64478	exon26			CAGGATGTCACTG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4029C>T	8.37:g.3141793G>A		Somatic	51	0	0	608	WXS	Illumina HiSeq	Phase_I	64	22	0.34375	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	g	3.847	-0.032700	0.07543	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.12	4.25	0.50352	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56025	-0.8047	4	.	.	.	.	8.5228	0.33287	0.2323:0.0:0.7677:0.0	.	.	.	.	Y	823	.	.	H	-	1	0	CSMD1	3129200	0.999000	0.42202	0.879000	0.34478	0.348000	0.29142	0.833000	0.27504	1.165000	0.42670	-0.213000	0.12676	CAT	.	.	none		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3141793	G	A	3141793	2	1	12	1	0	0	0	0	0	0	0	1	3944	1368	48	2		2	CSMD1	8	3141793	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10		3141793	143222229	126	2890										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470003	10470003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgagagccggtgctggctgaCgagtccgaagaagccccctc	14	13	0	3	rs200772091		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:10470003C>T	ENST00000382483.3	-	4	1828	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	535					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCTGGCTGACGAGTCCGAAG	0.692																																					p.S535S		Atlas-SNP	.											.	RP1L1	453	.	0			c.G1605A						PASS	.	C		0,4096		0,0,2048	39	47	45		1605	-5.8	0	8		45	2,8346		0,2,4172	no	coding-synonymous	RP1L1	NM_178857.5		0,2,6220	TT,TC,CC		0.024,0.0,0.0161		535/2401	10470003	2,12442	2048	4174	6222	SO:0001819	synonymous_variant	94137	exon4			GGCTGACGAGTCC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1605G>A	8.37:g.10470003C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	38	13	0.342105	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			C|0.999;T|0.001	0.001	weak		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10470003	C	T	10470003	2	4	12	1	0	0	0	0	0	0	0	1	13533	523	19	1		1	RP1L1	8	10470003	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7328210	10470003	135894019	127	2891										
TEX15	56154	hgsc.bcm.edu	37	chr8	30701914	30701914	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actttaatttcccccttcttCtctcttttgttaagcggatt	4	11	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:30701914C>T	ENST00000256246.2	-	1	4694	c.4620G>A	c.(4618-4620)gaG>gaA	p.E1540E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1540					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)		CCCCCTTCTTCTCTCTTTTGT	0.368																																					p.E1540E		Atlas-SNP	.											.	TEX15	350	.	0			c.G4620A						PASS	.						185	188	187					8																	30701914		2203	4300	6503	SO:0001819	synonymous_variant	56154	exon1			CTTCTTCTCTCTT	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.4620G>A	8.37:g.30701914C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	196	75	0.382653	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																			.	.	none		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30701914	C	T	30701914	2	4	12	1	0	0	0	0	0	0	0	1	15776	912	32	2		2	TEX15	8	30701914	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	20231911	30701914	115662108	128	2892										
RP1	6101	hgsc.bcm.edu	37	chr8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caggaatggcgacccgaagaCgaggcgtgcggttcttctga	15	10	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642																																					p.T166M	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											RP1,NS,carcinoma,0,1	RP1	429	1	1	Substitution - Missense(1)	lung(1)	c.C497T						PASS	.						83	85	84					8																	55534023		2203	4300	6503	SO:0001583	missense	6101	exon2			CGAAGACGAGGCG	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.497C>T	8.37:g.55534023C>T	ENSP00000220676:p.Thr166Met	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	212	91	0.429245	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709586	0.30322	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	5.14	1.26	0.21427	Doublecortin domain (4);	0.635417	0.14570	N	0.311486	T	0.72930	0.3522	L	0.38175	1.15	0.09310	N	1	P	0.47604	0.898	B	0.30029	0.11	T	0.65496	-0.6154	10	0.62326	D	0.03	6.4508	4.3984	0.11374	0.1478:0.4103:0.0:0.4419	.	166	P56715	RP1_HUMAN	M	166	ENSP00000220676:T166M	ENSP00000220676:T166M	T	+	2	0	RP1	55696576	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.050000	0.13356	0.650000	0.86243	ACG	.	.	none		0.642	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55534023	C	T	55534023	3	4	12	1	0	0	0	0	1	0	0	0	13532	536	19	1	499	1	RP1	8	55534023	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	24832109	55534023	90829999	129	2893										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121174763	121174763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acacagttcaaattattgcaTacaataaagataaagaaagc	5	6	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:121174763T>C	ENST00000297848.3	+	4	574	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	COL14A1_ENST00000247781.3_Missense_Mutation_p.Y102H|COL14A1_ENST00000537875.1_Missense_Mutation_p.Y102H|COL14A1_ENST00000309791.4_Missense_Mutation_p.Y102H|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATTATTGCATACAATAAAGA	0.418																																					p.Y102H		Atlas-SNP	.											COL14A1,right_upper_lobe,carcinoma,-2,1	COL14A1	292	1	0			c.T304C						scavenged	.						90	90	90					8																	121174763		2203	4300	6503	SO:0001583	missense	7373	exon4			ATTGCATACAATA		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.304T>C	8.37:g.121174763T>C	ENSP00000297848:p.Tyr102His	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	335	4	0.0119403	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582601	0.46006	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.71	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.268999	0.36374	N	0.002635	T	0.41994	0.1183	L	0.34521	1.04	0.29077	N	0.882936	B	0.06786	0.001	B	0.08055	0.003	T	0.41787	-0.9489	10	0.62326	D	0.03	.	11.6072	0.51039	0.0:0.0696:0.0:0.9304	.	102	Q05707	COEA1_HUMAN	H	102	ENSP00000443974:Y102H;ENSP00000311809:Y102H;ENSP00000297848:Y102H;ENSP00000247781:Y102H	ENSP00000247781:Y102H	Y	+	1	0	COL14A1	121243944	0.988000	0.35896	0.954000	0.39281	0.990000	0.78478	3.879000	0.56138	0.997000	0.38969	0.533000	0.62120	TAC	.	.	none		0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		C	121174763	T	C	121174763	3	2	12	1	0	0	0	0	1	0	0	0	3671	1406	49	2	314	2	COL14A1	8	121174763	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	65640740	121174763	25189259	130	2894										
KCNQ3	3786	hgsc.bcm.edu	37	chr8	133186530	133186530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gccaattaaggaaaaggtggCggcaatcagacggccttccc	12	11	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:133186530C>T	ENST00000388996.4	-	6	1420	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A214T|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A334T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	334					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAAAGGTGGCGGCAATCAGA	0.512																																					p.A334T		Atlas-SNP	.											.	KCNQ3	164	.	0			c.G1000A						PASS	.						125	82	96					8																	133186530		2166	4186	6352	SO:0001583	missense	3786	exon6			AGGTGGCGGCAAT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1000G>A	8.37:g.133186530C>T	ENSP00000373648:p.Ala334Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	150	45	0.3	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	36	5.679407	0.96774	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98329	-4.87;-4.87;-4.87	4.96	4.96	0.65561	Ion transport (1);	0.055265	0.64402	D	0.000001	D	0.98232	0.9415	L	0.43757	1.38	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	D	0.99859	1.1081	10	0.87932	D	0	-23.3549	17.5496	0.87872	0.0:1.0:0.0:0.0	.	334;334	E7ET42;O43525	.;KCNQ3_HUMAN	T	334;214;334;323;213	ENSP00000373648:A334T;ENSP00000429799:A214T;ENSP00000428790:A334T	ENSP00000373648:A334T	A	-	1	0	KCNQ3	133255712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.446000	0.82766	0.563000	0.77884	GCC	.	.	none		0.512	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		T	133186530	C	T	133186530	3	4	12	1	0	0	0	0	1	0	0	0	8084	768	27	1	1658	1	KCNQ3	8	133186530	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12011767	133186530	13177492	131	2895										
COL22A1	169044	hgsc.bcm.edu	37	chr8	139833539	139833539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gggccatcttgtgccagtccCggtcaaagaggtcattgacc	12	12	3	2	rs146329974		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:139833539C>T	ENST00000303045.6	-	7	1531	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R362Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	362	Laminin G-like.				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)			GTGCCAGTCCCGGTCAAAGAG	0.567										HNSCC(7;0.00092)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		20235	0.0		0.0	False		,,,				2504	0.0				p.R362Q		Atlas-SNP	.											COL22A1,colon,carcinoma,0,1	COL22A1	390	1	0			c.G1085A						scavenged	.	C	GLN/ARG	0,4406		0,0,2203	152	129	137		1085	5.2	1	8	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	yes	missense	COL22A1	NM_152888.1	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	362/1627	139833539	3,13003	2203	4300	6503	SO:0001583	missense	169044	exon7			CAGTCCCGGTCAA	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.1085G>A	8.37:g.139833539C>T	ENSP00000303153:p.Arg362Gln	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	228	6	0.0263158	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462463	0.84425	0.0	3.49E-4	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.13538	2.58;2.58	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.45867	D	0.000327	T	0.40372	0.1114	M	0.78637	2.42	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.14671	-1.0464	9	.	.	.	.	18.1827	0.89783	0.0:1.0:0.0:0.0	.	362	Q8NFW1	COMA1_HUMAN	Q	362	ENSP00000303153:R362Q;ENSP00000387655:R362Q	.	R	-	2	0	COL22A1	139902721	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.788000	0.69020	2.616000	0.88540	0.558000	0.71614	CGG	C|1.000;T|0.000	0.000	strong		0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139833539	C	T	139833539	3	4	12	1	0	0	0	0	1	0	0	0	3681	652	23	1	4031	1	COL22A1	8	139833539	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6647009	139833539	6530483	132	2896										
GPR20	2843	hgsc.bcm.edu	37	chr8	142367400	142367400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aacacgctgatgaccagcagGggcagcaggaactccaggac	13	12	0	2	rs11167054	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr8:142367400G>A	ENST00000377741.3	-	2	714	c.624C>T	c.(622-624)ccC>ccT	p.P208P	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	208					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGACCAGCAGGGGCAGCAGGA	0.701													A|||	3770	0.752796	0.8533	0.8573	5008	,	,		17946	0.5099		0.8171	False		,,,				2504	0.727				p.P208P		Atlas-SNP	.											GPR20,NS,carcinoma,0,2	GPR20	43	2	0			c.C624T						scavenged	.	A		3616,550		1570,476,37	10	11	11		624	-8.4	0.7	8	dbSNP_120	11	6656,1574		2708,1240,167	no	coding-synonymous	GPR20	NM_005293.2		4278,1716,204	AA,AG,GG		19.1252,13.2021,17.1346		208/359	142367400	10272,2124	2083	4115	6198	SO:0001819	synonymous_variant	2843	exon2			CAGCAGGGGCAGC	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.624C>T	8.37:g.142367400G>A		Somatic	2	1	0.5		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_005293	Q17R96	Silent	SNP	ENST00000377741.3	37	CCDS34949.1																																																																																			G|0.248;A|0.752	0.752	strong		0.701	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367400	G	A	142367400	2	1	12	1	0	0	0	0	0	0	0	1	6680	1219	43	2		2	GPR20	8	142367400	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2533861	142367400	3996622	133	2897										
TESK1	7016	hgsc.bcm.edu	37	chr9	35608460	35608460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaatggatcctggagcagctGcctgagccagccccactcac	11	15	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:35608460G>A	ENST00000336395.5	+	9	1204	c.954G>A	c.(952-954)ctG>ctA	p.L318L	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	318					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGCAGCTGCCTGAGCCAG	0.587																																					p.L318L		Atlas-SNP	.											TESK1,NS,neuroblastoma,0,1	TESK1	46	1	0			c.G954A						PASS	.						57	54	55					9																	35608460		2203	4300	6503	SO:0001819	synonymous_variant	7016	exon9			GCAGCTGCCTGAG	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.954G>A	9.37:g.35608460G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	68	30	0.441176	NM_006285	Q8IXZ8	Silent	SNP	ENST00000336395.5	37	CCDS6580.1																																																																																			.	.	none		0.587	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		A	35608460	G	A	35608460	2	1	12	1	0	0	0	0	0	0	0	1	15764	1306	46	2		2	TESK1	9	35608460	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10		35608460	105604971	134	2898										
RECK	8434	hgsc.bcm.edu	37	chr9	36117028	36117028	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgacgacttttgataaatttGgatgtagccagtatgagtgt	11	4	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:36117028G>T	ENST00000377966.3	+	17	2673	c.2107G>T	c.(2107-2109)Gga>Tga	p.G703*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	703	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGATAAATTTGGATGTAGCCA	0.502																																					p.G703X		Atlas-SNP	.											RECK,NS,carcinoma,-2,1	RECK	73	1	0			c.G2107T						scavenged	.						167	146	153					9																	36117028		2203	4300	6503	SO:0001587	stop_gained	8434	exon17			AAATTTGGATGTA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2107G>T	9.37:g.36117028G>T	ENSP00000367202:p.Gly703*	Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	282	3	0.0106383	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	44	10.847311	0.99477	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.91	5.91	0.95273	.	0.205237	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-14.4645	17.7923	0.88558	0.0:0.0:1.0:0.0	.	.	.	.	X	703	.	ENSP00000367202:G703X	G	+	1	0	RECK	36107028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.240000	0.65378	2.793000	0.96121	0.655000	0.94253	GGA	.	.	none		0.502	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36117028	G	T	36117028	4	4	12	1	0	0	0	0	0	1	0	0	13200	1349	47	4	2173	4	RECK	9	36117028	Nonsense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	508568	36117028	105096403	135	2899										
SMC5	23137	hgsc.bcm.edu	37	chr9	72897468	72897468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgaagaaatggaaaacgagcGtcacaatttggaggctcgaa	12	6	1	2	rs115131883		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:72897468G>A	ENST00000361138.5	+	7	1008	c.950G>A	c.(949-951)cGt>cAt	p.R317H		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	317					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAACGAGCGTCACAATTTG	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		16784	0.0		0.001	False		,,,				2504	0.0				p.R317H		Atlas-SNP	.											.	SMC5	96	.	0			c.G950A						PASS	.						80	79	79					9																	72897468		2203	4300	6503	SO:0001583	missense	23137	exon7			ACGAGCGTCACAA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.950G>A	9.37:g.72897468G>A	ENSP00000354957:p.Arg317His	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	247	103	0.417004	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.955	0.969095	0.18659	.	.	ENSG00000198887	ENST00000361138	T	0.18016	2.24	5.61	5.61	0.85477	RecF/RecN/SMC (1);	0.276654	0.37715	N	0.001971	T	0.12689	0.0308	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.49192	0.602	T	0.23226	-1.0194	10	0.15952	T	0.53	-11.1893	7.1841	0.25789	0.1378:0.0:0.7171:0.1451	.	317	Q8IY18	SMC5_HUMAN	H	317	ENSP00000354957:R317H	ENSP00000354957:R317H	R	+	2	0	SMC5	72087288	0.357000	0.24938	0.463000	0.27130	0.326000	0.28443	2.392000	0.44433	2.804000	0.96469	0.650000	0.86243	CGT	G|1.000;A|0.000	0.000	strong		0.343	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		A	72897468	G	A	72897468	3	1	12	1	0	0	0	0	1	0	0	0	14786	1145	40	1	976	1	SMC5	9	72897468	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	36780440	72897468	68315963	136	2900										
PRUNE2	158471	hgsc.bcm.edu	37	chr9	79323927	79323927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gttgtcggtttgtttcattgTacagttgcatcatgctgggg	13	6	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:79323927T>C	ENST00000376718.3	-	8	3386	c.3263A>G	c.(3262-3264)tAc>tGc	p.Y1088C	PRUNE2_ENST00000428286.1_Missense_Mutation_p.Y729C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1088					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTTCATTGTACAGTTGCAT	0.517																																					p.Y1088C		Atlas-SNP	.											PRUNE2_ENST00000376718,NS,carcinoma,+1,1	PRUNE2	331	1	0			c.A3263G						scavenged	.						299	250	265					9																	79323927		1568	3582	5150	SO:0001583	missense	158471	exon8			TCATTGTACAGTT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3263A>G	9.37:g.79323927T>C	ENSP00000365908:p.Tyr1088Cys	Somatic	312	1	0.00320513		WXS	Illumina HiSeq	Phase_I	332	5	0.0150602	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919886	0.52653	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.60171	0.21;0.26	5.94	4.81	0.61882	.	0.530381	0.17500	N	0.172036	T	0.61048	0.2316	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.61530	-0.7044	10	0.87932	D	0	-1.0293	7.1781	0.25757	0.0:0.0737:0.1468:0.7795	.	1088	Q8WUY3	PRUN2_HUMAN	C	1088;729;1087	ENSP00000365908:Y1088C;ENSP00000397425:Y729C	ENSP00000365908:Y1088C	Y	-	2	0	PRUNE2	78513747	0.996000	0.38824	0.997000	0.53966	0.596000	0.36781	1.356000	0.34079	1.084000	0.41184	0.459000	0.35465	TAC	.	.	none		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79323927	T	C	79323927	3	2	12	1	0	0	0	0	1	0	0	0	12641	1638	57	2	6051	2	PRUNE2	9	79323927	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	6426459	79323927	61889504	137	2901										
FANCC	2176	hgsc.bcm.edu	37	chr9	97887407	97887407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agagcttctacaaagcactgCgtaaacacctgaatagtggc	9	10	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:97887407C>T	ENST00000289081.3	-	10	1211	c.957G>A	c.(955-957)acG>acA	p.T319T	FANCC_ENST00000375305.1_Silent_p.T319T|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	319					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAAAGCACTGCGTAAACACCT	0.428			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.T319T		Atlas-SNP	.	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	FANCC_ENST00000289081,pharynx,carcinoma,-1,2	FANCC	53	2	0			c.G957A						scavenged	.						110	100	104					9																	97887407		2203	4300	6503	SO:0001819	synonymous_variant	2176	exon10	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GCACTGCGTAAAC	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.957G>A	9.37:g.97887407C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	173	4	0.0231214	NM_001243743	B1ALR8	Silent	SNP	ENST00000289081.3	37	CCDS35071.1																																																																																			.	.	none		0.428	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		T	97887407	C	T	97887407	2	4	12	1	0	0	0	0	0	0	0	1	5664	755	27	1		1	FANCC	9	97887407	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	18563480	97887407	43326024	138	2902										
KCNT1	57582	hgsc.bcm.edu	37	chr9	138671231	138671231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccccagcctcagcatcaccaCggagctcacccacccttcca	5	22	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr9:138671231C>T	ENST00000263604.3	+	24	2699	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	KCNT1_ENST00000298480.5_Missense_Mutation_p.T919M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T919M|KCNT1_ENST00000488444.2_Missense_Mutation_p.T900M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T878M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T898M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T886M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T874M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	900					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCATCACCACGGAGCTCACC	0.622																																					p.T919M		Atlas-SNP	.											.	KCNT1	139	.	0			c.C2756T						PASS	.						149	146	147					9																	138671231		2203	4300	6503	SO:0001583	missense	57582	exon24			TCACCACGGAGCT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2699C>T	9.37:g.138671231C>T	ENSP00000263604:p.Thr900Met	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	101	46	0.455446	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	C	19.41	3.821619	0.71028	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.77	3.77	0.43336	.	0.000000	0.85682	U	0.000000	D	0.86994	0.6067	M	0.81497	2.545	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.978;0.978;0.994;0.978	D	0.88055	0.2790	10	0.54805	T	0.06	-30.3053	12.6769	0.56899	0.1657:0.8343:0.0:0.0	.	886;919;874;900	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	874;919;919;878;886;900;898;900	ENSP00000417851:T874M;ENSP00000298480:T919M;ENSP00000360822:T919M;ENSP00000263604:T900M	ENSP00000263604:T900M	T	+	2	0	KCNT1	137811052	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.830000	0.69324	1.778000	0.52293	0.455000	0.32223	ACG	.	.	none		0.622	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138671231	C	T	138671231	3	4	12	1	0	0	0	0	1	0	0	0	8091	536	19	1	2850	1	KCNT1	9	138671231	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	40783824	138671231	2542200	139	2903										
CUBN	8029	hgsc.bcm.edu	37	chr10	17157519	17157519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cacagatgccatggacacagCgtgccacagaacccccttca	8	16	1	2	rs139891639		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:17157519C>T	ENST00000377833.4	-	7	736	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	224					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGACACAGCGTGCCACAGA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18639	0.0		0.0	False		,,,				2504	0.0				p.R224H		Atlas-SNP	.											CUBN,NS,NS,-1,1	CUBN	515	1	0			c.G671A						scavenged	.	C	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	142	119	127		671	-11.5	0	10	dbSNP_134	127	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	29	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging	224/3624	17157519	6,13000	2203	4300	6503	SO:0001583	missense	8029	exon7			ACACAGCGTGCCA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.671G>A	10.37:g.17157519C>T	ENSP00000367064:p.Arg224His	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608903	0.46527	0.001362	0.0	ENSG00000107611	ENST00000377833	T	0.75938	-0.98	5.75	-11.5	0.00074	Growth factor, receptor (1);Epidermal growth factor-like (1);	1.001730	0.08054	N	0.997097	T	0.53433	0.1796	N	0.22421	0.69	0.37548	D	0.918576	D	0.56521	0.976	B	0.40782	0.34	T	0.72465	-0.4285	10	0.72032	D	0.01	.	12.661	0.56813	0.7128:0.1589:0.0:0.1283	.	224	O60494	CUBN_HUMAN	H	224	ENSP00000367064:R224H	ENSP00000367064:R224H	R	-	2	0	CUBN	17197525	0.981000	0.34729	0.003000	0.11579	0.184000	0.23303	0.423000	0.21313	-1.630000	0.01545	-0.274000	0.10170	CGC	C|0.999;T|0.001	0.001	strong		0.537	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17157519	C	T	17157519	3	4	12	1	0	0	0	0	1	0	0	0	4051	768	27	1	10444	1	CUBN	10	17157519	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		17157519	118377228	140	2904										
GAD2	2572	hgsc.bcm.edu	37	chr10	26508109	26508109	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tccattatcctaatgagcttCtccaagaatataattgggaa	6	8	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:26508109C>T	ENST00000376261.3	+	4	927	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	GAD2_ENST00000259271.3_Missense_Mutation_p.L142F|GAD2_ENST00000376248.1_Missense_Mutation_p.L28F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	142					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAATGAGCTTCTCCAAGAATA	0.343																																					p.L142F		Atlas-SNP	.											.	GAD2	116	.	0			c.C424T						PASS	.						100	105	103					10																	26508109		2203	4300	6503	SO:0001583	missense	2572	exon4			GAGCTTCTCCAAG	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.424C>T	10.37:g.26508109C>T	ENSP00000365437:p.Leu142Phe	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_000818	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328723	0.60743	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.59906	0.23;0.23;0.23;1.13	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.53671	1.685	0.80722	D	1	D;B	0.89917	1.0;0.288	D;B	0.91635	0.999;0.12	T	0.62751	-0.6788	10	0.09843	T	0.71	-15.2362	19.6436	0.95767	0.0:1.0:0.0:0.0	.	142;142	Q4G154;Q05329	.;DCE2_HUMAN	F	142;142;142;28	ENSP00000365437:L142F;ENSP00000259271:L142F;ENSP00000390434:L142F;ENSP00000365424:L28F	ENSP00000259271:L142F	L	+	1	0	GAD2	26548115	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.666000	0.68059	2.621000	0.88768	0.650000	0.86243	CTC	.	.	none		0.343	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		T	26508109	C	T	26508109	3	4	12	1	0	0	0	0	1	0	0	0	6180	913	32	2	438	2	GAD2	10	26508109	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9350590	26508109	109026638	141	2905										
ARMC4	55130	hgsc.bcm.edu	37	chr10	28250635	28250635	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acagtttcctcaatcttttcAgcactcttcctaagaacaat	3	12	4	1	rs202113129	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:28250635A>C	ENST00000305242.5	-	10	1340	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.A108A|ARMC4_ENST00000239715.3_Silent_p.A273A|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	416					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAATCTTTTCAGCACTCTTCC	0.453																																					p.A416A		Atlas-SNP	.											ARMC4,NS,carcinoma,0,1	ARMC4	177	1	0			c.T1248G						scavenged	.						65	58	61					10																	28250635		2203	4297	6500	SO:0001819	synonymous_variant	55130	exon10			CTTTTCAGCACTC	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1248T>G	10.37:g.28250635A>C		Somatic	139	2	0.0143885		WXS	Illumina HiSeq	Phase_I	155	12	0.0774194	NM_018076	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																			.	.	weak		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		C	28250635	A	C	28250635	2	2	12	1	0	0	0	0	0	0	0	1	953	175	7	5		5	ARMC4	10	28250635	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1742526	28250635	107284112	142	2906										
CUL2	8453	hgsc.bcm.edu	37	chr10	35317807	35317807	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggagcctgagtaagaggccaCgcaccagcctagaaggaaaa	13	10	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:35317807C>A	ENST00000374748.1	-	17	1861	c.1548G>T	c.(1546-1548)gcG>gcT	p.A516A	CUL2_ENST00000374749.3_Silent_p.A516A|CUL2_ENST00000374746.1_Silent_p.A516A|CUL2_ENST00000374751.3_Silent_p.A516A|CUL2_ENST00000602371.1_Silent_p.A459A|CUL2_ENST00000537177.1_Silent_p.A535A|CUL2_ENST00000374742.1_Silent_p.A516A			Q13617	CUL2_HUMAN	cullin 2	516					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TAAGAGGCCACGCACCAGCCT	0.318																																					p.A535A		Atlas-SNP	.											CUL2,caecum,carcinoma,-1,2	CUL2	63	2	0			c.G1605T						scavenged	.						38	39	39					10																	35317807		2203	4300	6503	SO:0001819	synonymous_variant	8453	exon16			AGGCCACGCACCA	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1548G>T	10.37:g.35317807C>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_001198778	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	CCDS7179.1																																																																																			.	.	none		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		A	35317807	C	A	35317807	2	1	12	1	0	0	0	0	0	0	0	1	4055	523	19	4		4	CUL2	10	35317807	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7067172	35317807	100216940	143	2907										
CCNY	219771	hgsc.bcm.edu	37	chr10	35819129	35819129	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggttcgttcggacactgttCagtgctgctcagctgacggc	13	12	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:35819129C>T	ENST00000374704.4	+	7	717	c.537C>T	c.(535-537)ttC>ttT	p.F179F	CCNY_ENST00000374706.1_Silent_p.F125F|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Silent_p.F125F|CCNY_ENST00000339497.5_Silent_p.F154F	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	179	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GGACACTGTTCAGTGCTGCTC	0.547																																					p.F179F		Atlas-SNP	.											CCNY,NS,carcinoma,0,1	CCNY	22	1	0			c.C537T						scavenged	.						114	80	91					10																	35819129		2203	4300	6503	SO:0001819	synonymous_variant	219771	exon7			ACTGTTCAGTGCT	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.537C>T	10.37:g.35819129C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	100	2	0.02	NM_145012	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Silent	SNP	ENST00000374704.4	37	CCDS7189.1																																																																																			.	.	none		0.547	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		T	35819129	C	T	35819129	2	4	12	1	0	0	0	0	0	0	0	1	2936	825	29	2		2	CCNY	10	35819129	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	501322	35819129	99715618	144	2908										
ANKRD30A	91074	hgsc.bcm.edu	37	chr10	37486392	37486392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gccttggaattgaagaatgaAcaaacattgagagcaggtac	11	6	0	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:37486392A>G	ENST00000602533.1	+	29	2631	c.2532A>G	c.(2530-2532)gaA>gaG	p.E844E	ANKRD30A_ENST00000374660.1_Silent_p.E963E|ANKRD30A_ENST00000361713.1_Silent_p.E844E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	900					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAGAATGAACAAACATTGA	0.328																																					p.E844E		Atlas-SNP	.											ANKRD30A_ENST00000602533,NS,carcinoma,+2,2	ANKRD30A	448	2	0			c.A2532G						scavenged	.						106	94	98					10																	37486392		1814	4073	5887	SO:0001819	synonymous_variant	91074	exon29			GAATGAACAAACA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2532A>G	10.37:g.37486392A>G		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	336	5	0.014881	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																				.	.	none		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37486392	A	G	37486392	2	3	12	1	0	0	0	0	0	0	0	1	658	40	2	2		2	ANKRD30A	10	37486392	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1667263	37486392	98048355	145	2909										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	5	0	2	rs76607193	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X		Atlas-SNP	.											CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	67	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T						scavenged	.						191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*	Somatic	237	2	0.00843882		WXS	Illumina HiSeq	Phase_I	187	3	0.0160428	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	C|0.997;T|0.003	0.003	strong		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	12	1	0	0	0	0	0	1	0	0	3939	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6172980	43659372	91875375	146	2910										
NEUROG3	50674	hgsc.bcm.edu	37	chr10	71332204	71332204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctgggctcaagcaggcggaaAaggtggcccccagcagcccg	15	14	1	0	rs4536103	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:71332204A>G	ENST00000242462.4	-	2	625	c.596T>C	c.(595-597)tTt>tCt	p.F199S		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	199			F -> S (in dbSNP:rs4536103). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCAGGCGGAAAAGGTGGCCCC	0.657													G|||	2153	0.429912	0.2572	0.611	5008	,	,		14845	0.3125		0.666	False		,,,				2504	0.4131				p.F199S		Atlas-SNP	.											.	NEUROG3	33	.	0			c.T596C	GRCh37	CM068025	NEUROG3	M	rs4536103	PASS	.	G	SER/PHE	1453,2229		343,767,731	5	5	5		596	2.9	0.2	10	dbSNP_111	5	5305,2511		1897,1511,500	yes	missense	NEUROG3	NM_020999.3	155	2240,2278,1231	GG,GA,AA		32.1264,39.4622,41.2246	benign	199/215	71332204	6758,4740	1841	3908	5749	SO:0001583	missense	50674	exon2			GCGGAAAAGGTGG	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.596T>C	10.37:g.71332204A>G	ENSP00000242462:p.Phe199Ser	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	12	8	0.666667	NM_020999	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	CCDS31212.1	990	0.4532967032967033	121	0.2459349593495935	212	0.585635359116022	158	0.2762237762237762	499	0.658311345646438	G	3.112	-0.182485	0.06340	0.394622	0.678736	ENSG00000122859	ENST00000242462	D	0.92965	-3.14	4.83	2.94	0.34122	.	0.183574	0.26620	N	0.023369	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	9	0.06757	T	0.87	-13.4227	9.496	0.38989	0.2399:0.0:0.7601:0.0	rs4536103;rs4536103	199	Q9Y4Z2	NGN3_HUMAN	S	199	ENSP00000242462:F199S	ENSP00000242462:F199S	F	-	2	0	NEUROG3	71002210	0.013000	0.17824	0.179000	0.23059	0.003000	0.03518	1.496000	0.35638	0.643000	0.30638	-0.119000	0.15052	TTT	A|0.573;G|0.427	0.427	strong		0.657	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		G	71332204	A	G	71332204	3	3	12	1	0	0	0	0	1	0	0	0	10354	14	1	2	52	2	NEUROG3	10	71332204	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	27672832	71332204	64202543	147	2911										
H2AFY2	55506	hgsc.bcm.edu	37	chr10	71835546	71835546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aagtaccggatcagcgtgggCgcccctgtctacatggcggc	14	13	2	0	rs373125930		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:71835546C>T	ENST00000373255.4	+	2	396	c.132C>T	c.(130-132)ggC>ggT	p.G44G		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	44	Histone H2A.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGCGTGGGCGCCCCTGTCT	0.602																																					p.G44G		Atlas-SNP	.											.	H2AFY2	30	.	0			c.C132T						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	120	95	103		132	-11.8	0	10		103	0,8600		0,0,4300	no	coding-synonymous	H2AFY2	NM_018649.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		44/373	71835546	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55506	exon2			CGTGGGCGCCCCT	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.132C>T	10.37:g.71835546C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	162	73	0.450617	NM_018649	Q5SQT2	Silent	SNP	ENST00000373255.4	37	CCDS7296.1																																																																																			.	.	none		0.602	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		T	71835546	C	T	71835546	2	4	12	1	0	0	0	0	0	0	0	1	6930	755	27	1		1	H2AFY2	10	71835546	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	503342	71835546	63699201	148	2912										
CBARA1	10367	hgsc.bcm.edu	37	chr10	74183072	74183072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caccccactgtaggcaagtaGcatgccaccaaactgcctct	7	16	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:74183072G>A	ENST00000361114.5	-	9	1087	c.991C>T	c.(991-993)Cta>Tta	p.L331L	MICU1_ENST00000398761.4_Silent_p.L333L|MICU1_ENST00000398763.4_Silent_p.L133L|MICU1_ENST00000401998.3_Silent_p.L331L|MICU1_ENST00000418483.2_Silent_p.L133L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	331					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TAGGCAAGTAGCATGCCACCA	0.512																																					p.L331L		Atlas-SNP	.											.	.	.	.	0			c.C991T						PASS	.						104	96	99					10																	74183072		2000	4197	6197	SO:0001819	synonymous_variant	10367	exon9			CAAGTAGCATGCC	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.991C>T	10.37:g.74183072G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	149	54	0.362416	NM_001195518	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	CCDS55715.1																																																																																			.	.	none		0.512	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		A	74183072	G	A	74183072	2	1	12	1	0	0	0	0	0	0	0	1	2696	962	34	2		2	CBARA1	10	74183072	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2347526	74183072	61351675	149	2913										
DLG5	9231	hgsc.bcm.edu	37	chr10	79590551	79590551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccactccatggaatccgtgTcaatggccgagtcgtgggag	13	12	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:79590551T>C	ENST00000372391.2	-	10	1834	c.1829A>G	c.(1828-1830)gAc>gGc	p.D610G	DLG5_ENST00000372388.2_Missense_Mutation_p.D610G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	610					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAATCCGTGTCAATGGCCGA	0.547																																					p.D610G		Atlas-SNP	.											DLG5,colon,carcinoma,-1,1	DLG5	154	1	0			c.A1829G						scavenged	.						139	111	121					10																	79590551		2203	4300	6503	SO:0001583	missense	9231	exon10			TCCGTGTCAATGG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1829A>G	10.37:g.79590551T>C	ENSP00000361467:p.Asp610Gly	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	103	4	0.038835	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792042	0.90453	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.16897	2.31;2.31	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.000000	0.41396	D	0.000889	T	0.36963	0.0986	L	0.55481	1.735	0.48185	D	0.999601	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.995	T	0.02942	-1.1091	10	0.29301	T	0.29	.	15.909	0.79456	0.0:0.0:0.0:1.0	.	500;610;610	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	G	610;610;159	ENSP00000361467:D610G;ENSP00000361464:D610G	ENSP00000361464:D610G	D	-	2	0	DLG5	79260557	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.698000	0.84413	2.155000	0.67459	0.459000	0.35465	GAC	.	.	none		0.547	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			C	79590551	T	C	79590551	3	2	12	1	0	0	0	0	1	0	0	0	4558	1667	58	2	4022	2	DLG5	10	79590551	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	5407479	79590551	55944196	150	2914										
INPP5F	79892	hgsc.bcm.edu	37	chr10	121586927	121586927	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aacagacaccttctcggccaTcgcaattagatgtctctctt	6	13	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:121586927T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.S1012P|INPP5F_ENST00000369080.3_Missense_Mutation_p.S402P	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						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						TTCTCGGCCATCGCAATTAGA	0.458																																					p.S1012P		Atlas-SNP	.											INPP5F,colon,carcinoma,-2,3	INPP5F	112	3	0			c.T3034C						scavenged	.						130	123	125					10																	121586927		2203	4300	6503	SO:0001628	intergenic_variant	22876	exon20			CGGCCATCGCAAT	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		10.37:g.121586927T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	142	4	0.028169	NM_014937	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819944	0.50633	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.59906	0.65;0.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.80764	0.844;0.994	T	0.74657	-0.3592	10	0.59425	D	0.04	-11.4343	16.3662	0.83325	0.0:0.0:0.0:1.0	.	402;1012	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	1012;402	ENSP00000354519:S1012P;ENSP00000358076:S402P	ENSP00000354519:S1012P	S	+	1	0	INPP5F	121576917	1.000000	0.71417	0.706000	0.30403	0.048000	0.14542	7.596000	0.82721	2.274000	0.75844	0.533000	0.62120	TCG	.	.	none		0.458	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		C	121586927	T	C	121586927	1	2	12	0	1	0	0	0	0	0	0	0	7758	1435	50	2		2	INPP5F	10	121586927	IGR	SNP	T	TCGA-FF-8043-01A-11D-2210-10	41996376	121586927	13947820	151	2915										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcccccacaatggctggctcTcccacaactgtggccatagt	9	16	1	0	rs201802690		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:124358568T>A	ENST00000338354.3	+	26	3341	c.3235T>A	c.(3235-3237)Tcc>Acc	p.S1079T	DMBT1_ENST00000344338.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1079T|DMBT1_ENST00000330163.4_Missense_Mutation_p.S580T|DMBT1_ENST00000368956.2_Missense_Mutation_p.S580T|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1079	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCTCCCACAACTG	0.572																																					p.S1079T	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											DMBT1_ENST00000368915,NS,carcinoma,0,3	DMBT1	677	3	0			c.T3235A						scavenged	.						101	96	98					10																	124358568		1929	4141	6070	SO:0001583	missense	1755	exon26			TGGCTCTCCCACA		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3235T>A	10.37:g.124358568T>A	ENSP00000342210:p.Ser1079Thr	Somatic	184	2	0.0108696		WXS	Illumina HiSeq	Phase_I	224	14	0.0625	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	T	8.702	0.909917	0.17833	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	3.57	-6.98	0.01611	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.838313	0.10030	N	0.724884	T	0.30541	0.0768	L	0.27944	0.81	0.09310	N	1	B;D;B;B;B	0.57257	0.167;0.979;0.107;0.0;0.0	B;P;B;B;B	0.56563	0.087;0.801;0.023;0.001;0.001	T	0.20605	-1.0270	10	0.13853	T	0.58	.	4.1715	0.10332	0.6029:0.0791:0.1583:0.1597	.	586;1079;580;1069;1079	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	T	1079;1079;1079;1079;1079;1079;580;1069;580;580;1079;1069;580	ENSP00000342210:S1079T;ENSP00000343175:S1069T;ENSP00000327747:S580T;ENSP00000357905:S1079T;ENSP00000357951:S1069T;ENSP00000357952:S580T	ENSP00000331522:S580T	S	+	1	0	DMBT1	124348558	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.877000	0.00093	-0.959000	0.03618	-0.386000	0.06593	TCC	.	.	weak		0.572	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124358568	T	A	124358568	3	1	12	1	0	0	0	0	1	0	0	0	4577	1551	54	5	3337	5	DMBT1	10	124358568	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2771641	124358568	11176179	152	2916										
DOCK1	1793	hgsc.bcm.edu	37	chr10	129209114	129209114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctctgtacagtttttacaggGtgaacgaggtccagcgattt	11	8	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:129209114G>T	ENST00000280333.6	+	43	4400	c.4291G>T	c.(4291-4293)Gtg>Ttg	p.V1431L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1431	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTTTACAGGGTGAACGAGGT	0.438																																					p.V1431L		Atlas-SNP	.											.	DOCK1	188	.	0			c.G4291T						PASS	.						73	69	70					10																	129209114		1875	4103	5978	SO:0001583	missense	1793	exon43			TACAGGGTGAACG	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4291G>T	10.37:g.129209114G>T	ENSP00000280333:p.Val1431Leu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	60	23	0.383333	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.288809	0.80914	.	.	ENSG00000150760	ENST00000280333	T	0.17370	2.28	4.9	4.9	0.64082	.	0.062614	0.64402	D	0.000006	T	0.40839	0.1133	M	0.69523	2.12	0.54753	D	0.999989	P;D;P	0.63046	0.898;0.992;0.772	P;D;B	0.64237	0.542;0.923;0.326	T	0.19844	-1.0293	10	0.51188	T	0.08	.	18.3037	0.90172	0.0:0.0:1.0:0.0	.	1431;1497;1431	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	L	1431	ENSP00000280333:V1431L	ENSP00000280333:V1431L	V	+	1	0	DOCK1	129099104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.097000	0.64542	2.546000	0.85860	0.655000	0.94253	GTG	.	.	none		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	129209114	G	T	129209114	3	4	12	1	0	0	0	0	1	0	0	0	4684	1261	44	4	4461	4	DOCK1	10	129209114	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4850546	129209114	6325633	153	2917										
EBF3	253738	hgsc.bcm.edu	37	chr10	131761680	131761680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggtcctttcaatctccaccGgctgcccctgcctatcgtag	8	17	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr10:131761680G>A	ENST00000355311.5	-	2	314	c.242C>T	c.(241-243)cCg>cTg	p.P81L	EBF3_ENST00000368648.3_Missense_Mutation_p.P81L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	81					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATCTCCACCGGCTGCCCCTG	0.557																																					p.P81L		Atlas-SNP	.											EBF3_ENST00000355311,NS,carcinoma,+1,2	EBF3	193	2	0			c.C242T						scavenged	.						70	78	75					10																	131761680		2203	4300	6503	SO:0001583	missense	253738	exon2			TCCACCGGCTGCC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.242C>T	10.37:g.131761680G>A	ENSP00000347463:p.Pro81Leu	Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	142	65	0.457746	NM_001005463	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	19.06	3.754033	0.69648	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.66	3.45	3.45	0.39498	.	0.000000	0.85682	U	0.000000	T	0.67078	0.2855	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.971	T	0.71111	-0.4687	10	0.51188	T	0.08	-6.4879	14.5175	0.67827	0.0:0.0:1.0:0.0	.	81;81	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	L	81	ENSP00000347463:P81L;ENSP00000357637:P81L	ENSP00000347463:P81L	P	-	2	0	EBF3	131651670	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.831000	0.92068	1.453000	0.47775	0.205000	0.17691	CCG	.	.	none		0.557	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131761680	G	A	131761680	3	1	12	1	0	0	0	0	1	0	0	0	4882	1116	39	1	1473	1	EBF3	10	131761680	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2552566	131761680	3773067	154	2918										
NLRP6	171389	hgsc.bcm.edu	37	chr11	279844	279844	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcccttccagggctcgggctCggctccgggacgctgctctc	13	17	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:279844C>T	ENST00000312165.5	+	3	321	c.321C>T	c.(319-321)ctC>ctT	p.L107L	NLRP6_ENST00000534750.1_Silent_p.L107L	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	107					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCTCGGGCTCGGCTCCGGGA	0.726																																					p.L107L		Atlas-SNP	.											.	NLRP6	4	.	0			c.C321T						PASS	.						13	16	15					11																	279844		2190	4294	6484	SO:0001819	synonymous_variant	171389	exon3			CGGGCTCGGCTCC	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.321C>T	11.37:g.279844C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	42	7	0.166667	NM_138329	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																			.	.	none		0.726	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		T	279844	C	T	279844	2	4	12	1	0	0	0	0	0	0	0	1	10481	871	31	1		1	NLRP6	11	279844	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10		279844	134726672	155	2919										
IFITM3	10410	hgsc.bcm.edu	37	chr11	320723	320723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gttgtggggcgcccccagcaCagccacctcgtgctcctcct	11	18	0	0	rs199582787	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	31					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCCAGCACAGCCACCTCG	0.612																																					p.V31M		Atlas-SNP	.											IFITM3,brain,glioma,0,1	IFITM3	132	1	0			c.G91A						scavenged	.						87	98	95					11																	320723		1967	4140	6107	SO:0001583	missense	10410	exon1			CCAGCACAGCCAC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.91G>A	11.37:g.320723C>T	ENSP00000382707:p.Val31Met	Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_021034	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526447	0.27299	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.79454	-1.03;-1.27	4.61	-4.91	0.03085	.	11.488500	0.02440	N	0.084490	T	0.64516	0.2605	L	0.39147	1.195	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46400	-0.9194	10	0.13108	T	0.6	0.9022	6.4601	0.21952	0.1231:0.361:0.0:0.5159	.	31	Q01628	IFM3_HUMAN	M	31;15;10	ENSP00000382707:V31M;ENSP00000432108:V10M	ENSP00000372047:V15M	V	-	1	0	IFITM3	310723	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.638000	0.02013	-0.562000	0.06086	-1.790000	0.00627	GTG	.	.	weak		0.612	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		T	320723	C	T	320723	3	4	12	1	0	0	0	0	1	0	0	0	7528	478	17	2	318	2	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	40879	320723	134685793	156	2920										
CDHR5	53841	hgsc.bcm.edu	37	chr11	618688	618688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccccaccgggtgtggttggtTggtgggaggtgctggttccc	18	10	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:618688T>C	ENST00000358353.3	-	14	2193	c.1871A>G	c.(1870-1872)cAa>cGa	p.Q624R	IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.Q624R|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	624	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGTGGTTGGTTGGTGGGAGGT	0.657																																					p.Q624R		Atlas-SNP	.											CDHR5,NS,carcinoma,-1,1	CDHR5	77	1	0			c.A1871G						scavenged	.						137	139	139					11																	618688		2203	4300	6503	SO:0001583	missense	53841	exon13			GTTGGTTGGTGGG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1871A>G	11.37:g.618688T>C	ENSP00000351118:p.Gln624Arg	Somatic	304	1	0.00328947		WXS	Illumina HiSeq	Phase_I	286	4	0.013986	NM_021924	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	N	5.492	0.275744	0.10403	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.40225	1.04;1.04	2.65	-5.31	0.02730	.	.	.	.	.	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15065	-1.0450	9	0.36615	T	0.2	.	4.6589	0.12632	0.0:0.2838:0.3495:0.3667	.	618;624	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	R	624	ENSP00000380676:Q624R;ENSP00000351118:Q624R	ENSP00000351118:Q624R	Q	-	2	0	CDHR5	608688	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.015000	0.13355	-1.215000	0.02610	0.329000	0.21502	CAA	.	.	none		0.657	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	618688	T	C	618688	3	2	12	1	0	0	0	0	1	0	0	0	3122	1812	63	2	678	2	CDHR5	11	618688	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	297965	618688	134387828	157	2921										
BRSK2	9024	hgsc.bcm.edu	37	chr11	1467077	1467077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	catggaggtgctcagcgtgaCggacggcggctccccggtgc	17	13	1	1	rs368418167		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:1467077C>T	ENST00000528841.1	+	12	1550	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	BRSK2_ENST00000531197.1_Missense_Mutation_p.T389M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T389M|BRSK2_ENST00000308219.9_Missense_Mutation_p.T389M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T329M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T435M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T84M|BRSK2_ENST00000308230.5_Missense_Mutation_p.T389M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	389					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCAGCGTGACGGACGGCGGC	0.701																																					p.T435M		Atlas-SNP	.											.	BRSK2	97	.	0			c.C1304T						PASS	.	C	MET/THR	0,4342		0,0,2171	35	45	42		1166	3.7	0.9	11		42	1,8531		0,1,4265	no	missense	BRSK2	NM_003957.2	81	0,1,6436	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	389/669	1467077	1,12873	2171	4266	6437	SO:0001583	missense	9024	exon12			GCGTGACGGACGG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1166C>T	11.37:g.1467077C>T	ENSP00000432000:p.Thr389Met	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	61	32	0.52459	NM_001256630	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732292	0.89482	0.0	1.17E-4	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.73469	-0.75;1.82;-0.7;1.82;-0.7;1.82;-0.59;0.76	4.71	3.73	0.42828	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	D	0.83792	0.5331	M	0.65975	2.015	0.51767	D	0.999935	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.998;0.992	D	0.85738	0.1335	10	0.66056	D	0.02	.	14.2379	0.65938	0.0:0.8498:0.1502:0.0	.	389;435;389;389;389	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	M	389;389;389;389;389;329;435;84	ENSP00000310697:T389M;ENSP00000431152:T389M;ENSP00000310805:T389M;ENSP00000432000:T389M;ENSP00000433370:T389M;ENSP00000433235:T329M;ENSP00000371614:T435M;ENSP00000445168:T84M	ENSP00000310697:T389M	T	+	2	0	BRSK2	1423653	1.000000	0.71417	0.920000	0.36463	0.942000	0.58702	5.583000	0.67484	2.182000	0.69389	0.462000	0.41574	ACG	.	.	weak		0.701	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		T	1467077	C	T	1467077	3	4	12	1	0	0	0	0	1	0	0	0	1524	536	19	1	1212	1	BRSK2	11	1467077	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	848389	1467077	133539439	158	2922										
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643255	1643255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccccacagccagagccacaGcccccacagccggagccaca	8	22	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagagccacagcccccacagc	0.687																																					p.G23G		Atlas-SNP	.											KRTAP5-4,NS,carcinoma,0,1	KRTAP5-4	78	1	1	Substitution - coding silent(1)	kidney(1)	c.C69T						scavenged	.						4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267	exon1			GCCACAGCCCCCA	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.69C>T	11.37:g.1643255G>A		Somatic	135	5	0.037037		WXS	Illumina HiSeq	Phase_I	226	20	0.0884956	NM_001012709		Silent	SNP	ENST00000399682.1	37																																																																																				.	.	none		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	12	1	0	0	0	0	0	0	0	1	8563	958	34	2		2	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	176178	1643255	133363261	159	2923										
ZNF195	7748	hgsc.bcm.edu	37	chr11	3380465	3380465	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctcttatgtacaataaggttTgaggactgggtaaagttttt	10	4	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:3380465T>G	ENST00000399602.4	-	6	1899	c.1773A>C	c.(1771-1773)tcA>tcC	p.S591S	ZNF195_ENST00000429541.2_Silent_p.S523S|ZNF195_ENST00000354599.6_Silent_p.S519S|ZNF195_ENST00000343338.7_Silent_p.S523S|ZNF195_ENST00000526601.1_Silent_p.S572S|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.S568S	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAATAAGGTTTGAGGACTGGG	0.408																																					p.S591S		Atlas-SNP	.											ZNF195,NS,carcinoma,-2,1	ZNF195	77	1	0			c.A1773C						scavenged	.																																			SO:0001819	synonymous_variant	7748	exon6			AAGGTTTGAGGAC		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1773A>C	11.37:g.3380465T>G		Somatic	66	2	0.030303		WXS	Illumina HiSeq	Phase_I	65	2	0.0307692	NM_001130520	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	CCDS44522.1																																																																																			.	.	none		0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			G	3380465	T	G	3380465	2	3	12	1	0	0	0	0	0	0	0	1	17755	1799	63	5		5	ZNF195	11	3380465	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	1737210	3380465	131626051	160	2924										
RRAS2	22800	hgsc.bcm.edu	37	chr11	14300971	14300971	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	attcctgctcttgaaatttcCtgtaagataaaaaattctaa	4	7	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:14300971C>T	ENST00000256196.4	-	6	841		c.e6-1		RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TTGAAATTTCCTGTAAGATAA	0.343																																					.		Atlas-SNP	.											.	RRAS2	29	.	0			c.528-1G>A						PASS	.						121	117	118					11																	14300971		2200	4294	6494	SO:0001630	splice_region_variant	22800	exon7			AATTTCCTGTAAG	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.528-1G>A	11.37:g.14300971C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	107	5	0.046729	NM_012250	B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871523	0.51695	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14257547	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.760000	0.85248	2.821000	0.97095	0.555000	0.69702	.	.	.	none		0.343	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	T	14300971	C	T	14300971	5	4	12	1	0	0	0	0	0	0	1	0	13677	695	24	2	91	2	RRAS2	11	14300971	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	10920506	14300971	120705545	161	2925										
PLEKHA7	144100	hgsc.bcm.edu	37	chr11	17035718	17035718	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acgggctccccggtgcgcggAtgcagccaggtcgtgcagcg	17	14	0	0	rs202005932|rs61881311	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:17035718A>G	ENST00000355661.3	-	2	127	c.117T>C	c.(115-117)caT>caC	p.H39H	PLEKHA7_ENST00000448080.2_Silent_p.H39H|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000532079.1_Missense_Mutation_p.I18T|PLEKHA7_ENST00000531066.1_Silent_p.H39H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	39	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGTGCGCGGATGCAGCCAGG	0.771													g|||	3545	0.707867	0.5408	0.7334	5008	,	,		6163	0.9653		0.6143	False		,,,				2504	0.7464				p.H39H		Atlas-SNP	.											.	PLEKHA7	120	.	0			c.T117C						PASS	.			2252,1710		684,884,413	8	10	9		117	3.2	0.8	11	dbSNP_129	9	5300,2730		1826,1648,541	no	coding-synonymous	PLEKHA7	NM_175058.4		2510,2532,954	GG,GA,AA		33.9975,43.16,37.0247		39/1122	17035718	7552,4440	1981	4015	5996	SO:0001819	synonymous_variant	144100	exon2			GCGCGGATGCAGC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.117T>C	11.37:g.17035718A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_175058	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1	1562	0.7152014652014652	288	0.5853658536585366	256	0.7071823204419889	552	0.965034965034965	466	0.6147757255936676	g	8.595	0.885600	0.17540	0.5684	0.660025	ENSG00000166689	ENST00000532079	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.10800	-1.0614	4	0.87932	D	0	.	8.2593	0.31775	0.213:0.0:0.787:0.0	rs61881311	.	.	.	T	18	.	ENSP00000434812:I18T	I	-	2	0	PLEKHA7	16992294	1.000000	0.71417	0.816000	0.32577	0.127000	0.20565	1.878000	0.39608	0.316000	0.23135	-1.196000	0.01674	ATC	A|0.305;G|0.695	0.695	strong		0.771	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		G	17035718	A	G	17035718	2	3	12	1	0	0	0	0	0	0	0	1	12061	330	12	2		2	PLEKHA7	11	17035718	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	2734747	17035718	117970798	162	2926										
MRGPRX3	117195	hgsc.bcm.edu	37	chr11	18159093	18159093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aggcctaagcatgctgagcgCcatcagcaccgagcgctgcc	12	15	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:18159093C>T	ENST00000396275.2	+	3	705	c.344C>T	c.(343-345)gCc>gTc	p.A115V		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATGCTGAGCGCCATCAGCACC	0.567																																					p.A115V		Atlas-SNP	.											MRGPRX3,colon,carcinoma,+1,1	MRGPRX3	59	1	0			c.C344T						scavenged	.						125	117	120					11																	18159093		2200	4293	6493	SO:0001583	missense	117195	exon3			TGAGCGCCATCAG		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.344C>T	11.37:g.18159093C>T	ENSP00000379571:p.Ala115Val	Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	187	2	0.0106952	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112648	0.37242	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.38401	1.14;1.14	1.46	-0.729	0.11158	GPCR, rhodopsin-like superfamily (1);	0.179558	0.39407	N	0.001380	T	0.51244	0.1663	M	0.86097	2.795	0.19300	N	0.99997	D	0.65815	0.995	D	0.63283	0.913	T	0.41395	-0.9511	10	0.34782	T	0.22	.	5.8511	0.18694	0.0:0.6573:0.0:0.3427	.	115	Q96LB0	MRGX3_HUMAN	V	115	ENSP00000379571:A115V;ENSP00000436242:A115V	ENSP00000379571:A115V	A	+	2	0	MRGPRX3	18115669	0.051000	0.20477	0.002000	0.10522	0.004000	0.04260	0.651000	0.24873	-0.214000	0.10078	-0.573000	0.04149	GCC	.	.	none		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		T	18159093	C	T	18159093	3	4	12	1	0	0	0	0	1	0	0	0	9768	739	26	2	346	2	MRGPRX3	11	18159093	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1123375	18159093	116847423	163	2927										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18735652	18735652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	accttcacagtgatggcgtgCgcagccagtgcctccagtac	11	14	1	1	rs377071364		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:18735652C>T	ENST00000513874.1	-	14	1981	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	614	Ig-like 4.							p.A614A(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGGCGTGCGCAGCCAGTG	0.617																																					p.A614A		Atlas-SNP	.											IGSF22_ENST00000513874,NS,carcinoma,0,2	IGSF22	211	2	2	Substitution - coding silent(2)	breast(2)	c.G1842A						scavenged	.						59	64	62					11																	18735652		2131	4231	6362	SO:0001819	synonymous_variant	283284	exon14			GGCGTGCGCAGCC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1842G>A	11.37:g.18735652C>T		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	202	3	0.0148515	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																			.	.	weak		0.617	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		T	18735652	C	T	18735652	2	4	12	1	0	0	0	0	0	0	0	1	7600	755	27	1		1	IGSF22	11	18735652	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	576559	18735652	116270864	164	2928										
WT1	7490	hgsc.bcm.edu	37	chr11	32456397	32456397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctgtgccagtgaactggccGgaaaagtggacagtgaaggc	16	8	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:32456397G>A	ENST00000332351.3	-	1	779	c.495C>T	c.(493-495)tcC>tcT	p.S165S	WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1_ENST00000448076.3_Silent_p.S165S|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000395900.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	97					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAACTGGCCGGAAAAGTGGA	0.682			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.S165S		Atlas-SNP	.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1	744	.	0			c.C495T						PASS	.						17	19	18					11																	32456397		2198	4292	6490	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	CTGGCCGGAAAAG		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.495C>T	11.37:g.32456397G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	109	41	0.376147	NM_024424	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			.	.	none		0.682	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456397	G	A	32456397	2	1	12	1	0	0	0	0	0	0	0	1	17405	1103	39	1		1	WT1	11	32456397	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	13720745	32456397	102550119	165	2929										
DDB2	1643	hgsc.bcm.edu	37	chr11	47259476	47259476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	taccccttatgaattgaggaCgatcgacgtgttcgatggaa	11	8	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:47259476C>T	ENST00000256996.4	+	8	1307	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	DDB2_ENST00000378600.3_Missense_Mutation_p.T182M|DDB2_ENST00000378603.3_Missense_Mutation_p.T307M|DDB2_ENST00000378601.3_3'UTR|ACP2_ENST00000525230.1_5'Flank	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	371					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GAATTGAGGACGATCGACGTG	0.483			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.T371M		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	DDB2,NS,carcinoma,0,2	DDB2	31	2	0			c.C1112T						scavenged	.						121	112	115					11																	47259476		2201	4298	6499	SO:0001583	missense	1643	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TGAGGACGATCGA		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1112C>T	11.37:g.47259476C>T	ENSP00000256996:p.Thr371Met	Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	169	6	0.035503	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692522	0.88735	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	T;T;T	0.69040	-0.35;-0.37;-0.22	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;1.0	T	0.82659	-0.0348	10	0.87932	D	0	-9.5278	20.6634	0.99662	0.0:1.0:0.0:0.0	.	307;182;371	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	M	371;307;182	ENSP00000256996:T371M;ENSP00000367866:T307M;ENSP00000367863:T182M	ENSP00000256996:T371M	T	+	2	0	DDB2	47216052	1.000000	0.71417	0.972000	0.41901	0.785000	0.44390	5.584000	0.67490	2.894000	0.99253	0.655000	0.94253	ACG	.	.	none		0.483	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		T	47259476	C	T	47259476	3	4	12	1	0	0	0	0	1	0	0	0	4324	536	19	1	1142	1	DDB2	11	47259476	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	14803079	47259476	87747040	166	2930										
OR4X1	390113	hgsc.bcm.edu	37	chr11	48286318	48286318	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgaggagatttattgggggAaaagtaatttgagaagagaa	14	0	0	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:48286318A>G	ENST00000320048.1	+	1	906	c.906A>G	c.(904-906)ggA>ggG	p.G302G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTATTGGGGGAAAAGTAATTT	0.398																																					p.G302G		Atlas-SNP	.											OR4X1,extremity,malignant_melanoma,+1,1	OR4X1	75	1	0			c.A906G						scavenged	.						33	33	33					11																	48286318		2201	4297	6498	SO:0001819	synonymous_variant	390113	exon1			TGGGGGAAAAGTA	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.906A>G	11.37:g.48286318A>G		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	154	2	0.012987	NM_001004726	Q6IF74	Silent	SNP	ENST00000320048.1	37	CCDS31487.1																																																																																			.	.	none		0.398	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		G	48286318	A	G	48286318	2	3	12	1	0	0	0	0	0	0	0	1	11084	233	9	2		2	OR4X1	11	48286318	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1026842	48286318	86720198	167	2931										
OR5R1	219479	hgsc.bcm.edu	37	chr11	56185039	56185039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agagcggatccttaggatagCggcaataataaagatgtagg	13	5	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:56185039C>T	ENST00000312253.1	-	1	669	c.670G>A	c.(670-672)Gct>Act	p.A224T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTAGGATAGCGGCAATAATA	0.443																																					p.A224T		Atlas-SNP	.											OR5R1,NS,carcinoma,0,1	OR5R1	83	1	0			c.G670A						scavenged	.						121	109	113					11																	56185039		2201	4296	6497	SO:0001583	missense	219479	exon1			GGATAGCGGCAAT	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.670G>A	11.37:g.56185039C>T	ENSP00000308595:p.Ala224Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	200	2	0.01	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725524	0.30593	.	.	ENSG00000174942	ENST00000312253	T	0.00188	8.59	5.53	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32608	U	0.005877	T	0.00144	0.0004	N	0.25060	0.705	0.09310	N	1	B	0.29531	0.247	B	0.31191	0.125	T	0.15407	-1.0438	10	0.23302	T	0.38	-7.8759	9.7227	0.40313	0.0:0.7777:0.0:0.2223	.	224	Q8NH85	OR5R1_HUMAN	T	224	ENSP00000308595:A224T	ENSP00000308595:A224T	A	-	1	0	OR5R1	55941615	0.000000	0.05858	0.417000	0.26559	0.745000	0.42441	-0.383000	0.07398	1.339000	0.45563	0.579000	0.79373	GCT	.	.	none		0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		T	56185039	C	T	56185039	3	4	12	1	0	0	0	0	1	0	0	0	11180	768	27	1	306	1	OR5R1	11	56185039	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7898721	56185039	78821477	168	2932										
P2RX3	5024	hgsc.bcm.edu	37	chr11	57106058	57106058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccgacttcttcacctatgagAccaccaagtcggtggttgtg	10	12	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:57106058A>G	ENST00000263314.2	+	1	68	c.34A>G	c.(34-36)Acc>Gcc	p.T12A	P2RX3_ENST00000533436.1_3'UTR|SSRP1_ENST00000278412.2_5'Flank	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	12					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CACCTATGAGACCACCAAGTC	0.542																																					p.T12A		Atlas-SNP	.											P2RX3,NS,carcinoma,-2,1	P2RX3	55	1	0			c.A34G						scavenged	.						257	232	241					11																	57106058		2201	4296	6497	SO:0001583	missense	5024	exon1			TATGAGACCACCA	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.34A>G	11.37:g.57106058A>G	ENSP00000263314:p.Thr12Ala	Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	336	8	0.0238095	NM_002559	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535914	0.85812	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.10668	2.85	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.90252	3.1	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.47548	-0.9109	10	0.87932	D	0	-39.1614	13.174	0.59615	1.0:0.0:0.0:0.0	.	12	P56373	P2RX3_HUMAN	A	12	ENSP00000263314:T12A	ENSP00000263314:T12A	T	+	1	0	P2RX3	56862634	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.091000	0.89528	2.137000	0.66172	0.533000	0.62120	ACC	.	.	none		0.542	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		G	57106058	A	G	57106058	3	3	12	1	0	0	0	0	1	0	0	0	11341	275	10	2	36	2	P2RX3	11	57106058	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	921019	57106058	77900458	169	2933										
OR6Q1	219952	hgsc.bcm.edu	37	chr11	57799050	57799050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggatttcctggtgtctctggCtgtgctactggcctcctcta	11	12	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:57799050C>T	ENST00000302622.3	+	1	649	c.626C>T	c.(625-627)gCt>gTt	p.A209V	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTGTCTCTGGCTGTGCTACTG	0.537																																					p.A209V		Atlas-SNP	.											OR6Q1,NS,carcinoma,+1,1	OR6Q1	58	1	0			c.C626T						scavenged	.						212	184	193					11																	57799050		2201	4296	6497	SO:0001583	missense	219952	exon1			CTCTGGCTGTGCT	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.626C>T	11.37:g.57799050C>T	ENSP00000307734:p.Ala209Val	Somatic	230	1	0.00434783		WXS	Illumina HiSeq	Phase_I	450	6	0.0133333	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.453834	0.01071	.	.	ENSG00000172381	ENST00000302622	T	0.34859	1.34	5.0	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.410373	0.17760	N	0.162940	T	0.13030	0.0316	N	0.03050	-0.425	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.32107	-0.9919	10	0.08837	T	0.75	.	7.1523	0.25618	0.0:0.6545:0.0:0.3455	.	209	Q8NGQ2	OR6Q1_HUMAN	V	209	ENSP00000307734:A209V	ENSP00000307734:A209V	A	+	2	0	OR6Q1	57555626	0.000000	0.05858	0.558000	0.28319	0.531000	0.34715	0.143000	0.16115	0.527000	0.28560	0.638000	0.83543	GCT	.	.	none		0.537	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		T	57799050	C	T	57799050	3	4	12	1	0	0	0	0	1	0	0	0	11208	797	28	2	628	2	OR6Q1	11	57799050	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	692992	57799050	77207466	170	2934										
NRXN2	9379	hgsc.bcm.edu	37	chr11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaagtccacgtgacaccactCgccatcattgaccttgcggc	9	15	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:64434761C>T	ENST00000377551.1	-	8	1970	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K			Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592																																					p.E587K		Atlas-SNP	.											NRXN2,caecum,carcinoma,0,2	NRXN2	247	2	1	Substitution - Missense(1)	large_intestine(1)	c.G1759A						scavenged	.						92	75	81					11																	64434761		2201	4297	6498	SO:0001583	missense	9379	exon9			ACCACTCGCCATC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1759G>A	11.37:g.64434761C>T	ENSP00000366774:p.Glu587Lys	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	199	4	0.0201005	NM_015080	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	NRXN2	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG	.	.	none		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64434761	C	T	64434761	3	4	12	1	0	0	0	0	1	0	0	0	10666	893	31	1	3708	1	NRXN2	11	64434761	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6635711	64434761	70571755	171	2935										
OVOL1	5017	hgsc.bcm.edu	37	chr11	65562092	65562092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acctaccagcgcatgctgaaCcgccacatgaagtgtcacaa	8	14	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:65562092C>T	ENST00000335987.3	+	3	754	c.402C>T	c.(400-402)aaC>aaT	p.N134N	OVOL1_ENST00000532448.1_Silent_p.N72N|RP11-770G2.5_ENST00000531155.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	134					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N134N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCATGCTGAACCGCCACATGA	0.592																																					p.N134N		Atlas-SNP	.											OVOL1,brain,glioma,0,1	OVOL1	15	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C402T						scavenged	.						125	92	103					11																	65562092		2201	4297	6498	SO:0001819	synonymous_variant	5017	exon3			GCTGAACCGCCAC	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.402C>T	11.37:g.65562092C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	179	3	0.0167598	NM_004561	Q6PCB1	Silent	SNP	ENST00000335987.3	37	CCDS8112.1																																																																																			.	.	none		0.592	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		T	65562092	C	T	65562092	2	4	12	1	0	0	0	0	0	0	0	1	11326	506	18	2		2	OVOL1	11	65562092	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1127331	65562092	69444424	172	2936										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94583290	94583290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccttctagacaaagaattcTtgaaggaaaaggagaaatta	8	6	2	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:94583290T>G	ENST00000433060.2	+	7	1801	c.1660T>G	c.(1660-1662)Ttg>Gtg	p.L554V	AMOTL1_ENST00000317829.8_Missense_Mutation_p.L504V|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	554					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAAAGAATTCTTGAAGGAAAA	0.468																																					p.L554V		Atlas-SNP	.											.	AMOTL1	95	.	0			c.T1660G						PASS	.						27	29	28					11																	94583290		1959	4155	6114	SO:0001583	missense	154810	exon7			GAATTCTTGAAGG	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1660T>G	11.37:g.94583290T>G	ENSP00000387739:p.Leu554Val	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	89	22	0.247191	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	T	7.496	0.651759	0.14516	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.21543	2.0;2.0	5.82	-0.383	0.12477	.	0.000000	0.64402	D	0.000019	T	0.20536	0.0494	L	0.43152	1.355	0.80722	D	1	B;B	0.32302	0.363;0.024	B;B	0.42030	0.373;0.044	T	0.04737	-1.0930	10	0.23302	T	0.38	-15.6535	10.8757	0.46909	0.0:0.3874:0.0:0.6126	.	504;554	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	V	504;560;554	ENSP00000320968:L504V;ENSP00000387739:L554V	ENSP00000320968:L504V	L	+	1	2	AMOTL1	94222938	0.999000	0.42202	0.989000	0.46669	0.903000	0.53119	0.533000	0.23082	-0.318000	0.08665	-0.250000	0.11733	TTG	.	.	none		0.468	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		G	94583290	T	G	94583290	3	3	12	1	0	0	0	0	1	0	0	0	583	1606	56	5	1686	5	AMOTL1	11	94583290	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	29021198	94583290	40423226	173	2937										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825404	95825404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgctgctgctgctgctgctgCtgctgctgctgttgctgctg	14	12	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:95825404C>T	ENST00000524717.1	-	2	3075	c.1791G>A	c.(1789-1791)caG>caA	p.Q597Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	597					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)				gctgctgctgctgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q597Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,1	MAML2	94	1	0			c.G1791A						scavenged	.						25	32	29					11																	95825404		2096	4109	6205	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGCTGC	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.1791G>A	11.37:g.95825404C>T		Somatic	117	2	0.017094		WXS	Illumina HiSeq	Phase_I	194	4	0.0206186	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.	.	none		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825404	C	T	95825404	2	4	12	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAML2	11	95825404	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1242114	95825404	39181112	174	2938										
CCDC82	79780	hgsc.bcm.edu	37	chr11	96117573	96117573	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttcctatgtttgattttgttCgtttcttcttcatatgttga	6	6	3	2	rs575911765		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:96117573C>T	ENST00000278520.5	-	3	767	c.339G>A	c.(337-339)acG>acA	p.T113T	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Silent_p.T113T|CCDC82_ENST00000542662.1_Silent_p.T113T			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	113								p.T113T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGATTTTGTTCGTTTCTTCTT	0.333																																					p.T113T		Atlas-SNP	.											CCDC82,NS,carcinoma,0,1	CCDC82	63	1	1	Substitution - coding silent(1)	prostate(1)	c.G339A						scavenged	.						196	188	191					11																	96117573		2201	4297	6498	SO:0001819	synonymous_variant	79780	exon4			TTTGTTCGTTTCT	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.339G>A	11.37:g.96117573C>T		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	435	6	0.0137931	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	CCDS8307.1																																																																																			.	.	none		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		T	96117573	C	T	96117573	2	4	12	1	0	0	0	0	0	0	0	1	2856	871	31	1		1	CCDC82	11	96117573	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	292169	96117573	38888943	175	2939										
MMP20	9313	hgsc.bcm.edu	37	chr11	102487591	102487591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgggttcaccagggaagaggCgataattggccacatcagga	14	8	2	1	rs146053692	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:102487591C>T	ENST00000260228.2	-	2	338	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	107					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	AGGGAAGAGGCGATAATTGGC	0.448													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.0				p.R109H		Atlas-SNP	.											MMP20,NS,carcinoma,-1,1	MMP20	52	1	0			c.G326A						scavenged	.						125	107	113					11																	102487591		2203	4299	6502	SO:0001583	missense	9313	exon2			AAGAGGCGATAAT	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.326G>A	11.37:g.102487591C>T	ENSP00000260228:p.Arg109His	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	324	6	0.0185185	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.57	1.677953	0.29783	.	.	ENSG00000137674	ENST00000260228	T	0.53640	0.61	5.09	5.09	0.68999	Metallopeptidase, catalytic domain (1);	0.111271	0.64402	D	0.000008	T	0.37461	0.1004	M	0.78801	2.425	0.09310	N	1	B	0.19935	0.04	B	0.09377	0.004	T	0.24584	-1.0156	10	0.32370	T	0.25	.	8.9325	0.35680	0.0:0.7688:0.1512:0.08	.	109	O60882	MMP20_HUMAN	H	109	ENSP00000260228:R109H	ENSP00000260228:R109H	R	-	2	0	MMP20	101992801	0.000000	0.05858	0.977000	0.42913	0.910000	0.53928	-0.237000	0.08990	2.804000	0.96469	0.655000	0.94253	CGC	C|0.999;T|0.001	0.001	strong		0.448	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			T	102487591	C	T	102487591	3	4	12	1	0	0	0	0	1	0	0	0	9659	768	27	1	1161	1	MMP20	11	102487591	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6370018	102487591	32518925	176	2940										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909644	123909644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agattccaaagaggggggcgTccagccctggggcatgggga	18	9	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:123909644T>C	ENST00000330487.5	-	1	73	c.65A>G	c.(64-66)gAc>gGc	p.D22G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGGGGGGCGTCCAGCCCTGG	0.562																																					p.D22G		Atlas-SNP	.											OR10G7,NS,carcinoma,+1,1	OR10G7	103	1	0			c.A65G						PASS	.						97	93	94					11																	123909644		2200	4299	6499	SO:0001583	missense	390265	exon1			GGGGCGTCCAGCC	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.65A>G	11.37:g.123909644T>C	ENSP00000329689:p.Asp22Gly	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	341	68	0.199413	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309984	0.23821	.	.	ENSG00000182634	ENST00000330487	T	0.00438	7.42	3.38	2.25	0.28309	.	0.495982	0.18008	N	0.154666	T	0.00178	0.0005	N	0.02697	-0.525	0.27635	N	0.947893	B	0.06786	0.001	B	0.12837	0.008	T	0.30238	-0.9985	10	0.46703	T	0.11	.	6.8806	0.24170	0.0:0.1112:0.0:0.8888	.	22	Q8NGN6	O10G7_HUMAN	G	22	ENSP00000329689:D22G	ENSP00000329689:D22G	D	-	2	0	OR10G7	123414854	0.000000	0.05858	0.681000	0.30009	0.009000	0.06853	-0.093000	0.11111	0.503000	0.28060	0.455000	0.32223	GAC	.	.	none		0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909644	T	C	123909644	3	2	12	1	0	0	0	0	1	0	0	0	10902	1667	58	2	874	2	OR10G7	11	123909644	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	21422053	123909644	11096872	177	2941										
RPUSD4	84881	hgsc.bcm.edu	37	chr11	126075445	126075445	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gttacagcaacttgcgcattCcggctgcgccgcactttcac	9	15	1	0	rs201545291		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:126075445C>T	ENST00000298317.4	-	5	767	c.714G>A	c.(712-714)cgG>cgA	p.R238R	RPUSD4_ENST00000534393.1_5'Flank|RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	238					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTTGCGCATTCCGGCTGCGCC	0.537																																					p.R238R		Atlas-SNP	.											.	RPUSD4	36	.	0			c.G714A						PASS	.						137	123	128					11																	126075445		2201	4299	6500	SO:0001819	synonymous_variant	84881	exon5			CGCATTCCGGCTG	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.714G>A	11.37:g.126075445C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	226	63	0.278761	NM_032795	E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	CCDS8469.1																																																																																			C|0.999;A|0.001	.	alt		0.537	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		T	126075445	C	T	126075445	2	4	12	1	0	0	0	0	0	0	0	1	13669	842	30	2		2	RPUSD4	11	126075445	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2165801	126075445	8931071	178	2942										
KIRREL3	84623	hgsc.bcm.edu	37	chr11	126318983	126318983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gagacgggctctgagaagtaCgtgtagtccactgtggtcct	14	9	1	2	rs548678938		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr11:126318983C>T	ENST00000525144.2	-	8	1167	c.918G>A	c.(916-918)acG>acA	p.T306T	KIRREL3_ENST00000529097.2_Silent_p.T306T|KIRREL3_ENST00000525704.2_Silent_p.T306T	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	306	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T306T(2)|p.T265T(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGAGAAGTACGTGTAGTCCA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19343	0.0		0.0	False		,,,				2504	0.0				p.T306T		Atlas-SNP	.											KIRREL3_ENST00000525704,NS,carcinoma,0,3	KIRREL3	183	3	3	Substitution - coding silent(3)	endometrium(3)	c.G918A						scavenged	.						136	146	143					11																	126318983		2105	4224	6329	SO:0001819	synonymous_variant	84623	exon8			GAAGTACGTGTAG	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.918G>A	11.37:g.126318983C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	296	3	0.0101351	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																			.	.	none		0.612	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126318983	C	T	126318983	2	4	12	1	0	0	0	0	0	0	0	1	8326	523	19	1		1	KIRREL3	11	126318983	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	243538	126318983	8687533	179	2943										
ATF7IP	55729	hgsc.bcm.edu	37	chr12	14578150	14578150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agactctatggagacagatgAaatcattcctattttggaaa	8	6	2	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:14578150A>G	ENST00000540793.1	+	1	1456	c.1301A>G	c.(1300-1302)gAa>gGa	p.E434G	ATF7IP_ENST00000261168.4_Missense_Mutation_p.E434G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E434G|ATF7IP_ENST00000544627.1_Missense_Mutation_p.E442G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E434G|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	434	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAGACAGATGAAATCATTCCT	0.338																																					p.E434G		Atlas-SNP	.											.	ATF7IP	136	.	0			c.A1301G						PASS	.						64	66	65					12																	14578150		2203	4300	6503	SO:0001583	missense	55729	exon2			CAGATGAAATCAT	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1301A>G	12.37:g.14578150A>G	ENSP00000444589:p.Glu434Gly	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	126	49	0.388889	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204229	0.79127	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.36699	1.64;1.64;1.64;1.64;1.24;1.64	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000019	T	0.57242	0.2040	L	0.59436	1.845	0.47441	D	0.999429	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.992;0.998;0.998;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.995;0.943;0.961;0.961;0.984;0.984	T	0.60581	-0.7235	10	0.87932	D	0	-21.0202	15.639	0.76981	1.0:0.0:0.0:0.0	.	442;434;442;434;434;434;45	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	G	434;434;434;442;434;434	ENSP00000261168:E434G;ENSP00000443179:E434G;ENSP00000445955:E434G;ENSP00000440440:E442G;ENSP00000379575:E434G;ENSP00000444589:E434G	ENSP00000261168:E434G	E	+	2	0	ATF7IP	14469417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.355000	0.73041	2.140000	0.66376	0.482000	0.46254	GAA	.	.	none		0.338	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		G	14578150	A	G	14578150	3	3	12	1	0	0	0	0	1	0	0	0	1087	246	9	2	1303	2	ATF7IP	12	14578150	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10		14578150	119273745	180	2944										
ARNTL2	56938	hgsc.bcm.edu	37	chr12	27573380	27573380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgtgacaatgatgacacagCcatggctgcatttatgaatt	9	7	0	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:27573380C>T	ENST00000266503.5	+	17	1844	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	ARNTL2_ENST00000395901.2_Missense_Mutation_p.A572V|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P536S|ARNTL2_ENST00000311001.5_Missense_Mutation_p.A595V|ARNTL2_ENST00000542388.1_Missense_Mutation_p.A524V|ARNTL2_ENST00000544915.1_Missense_Mutation_p.A575V|ARNTL2_ENST00000261178.5_Missense_Mutation_p.A561V|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	609					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GATGACACAGCCATGGCTGCA	0.458																																					p.A609V		Atlas-SNP	.											ARNTL2,NS,carcinoma,-1,1	ARNTL2	54	1	0			c.C1826T						scavenged	.						108	107	107					12																	27573380		2203	4300	6503	SO:0001583	missense	56938	exon17			ACACAGCCATGGC	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1826C>T	12.37:g.27573380C>T	ENSP00000266503:p.Ala609Val	Somatic	107	2	0.0186916		WXS	Illumina HiSeq	Phase_I	121	2	0.0165289	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.889464|2.889464	0.52014|0.52014	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000546179;ENST00000457040	T;T;T;T;T;T|T	0.36520|0.06849	1.25;1.25;1.25;1.25;1.25;1.25|3.25	3.48|3.48	2.57|2.57	0.30868|0.30868	.|.	0.521097|.	0.18803|.	N|.	0.130738|.	T|T	0.12305|0.12305	0.0299|0.0299	M|M	0.80422|0.80422	2.495|2.495	0.30411|0.30411	N|N	0.779104|0.779104	P;B;B;P;P|B	0.45212|0.32829	0.853;0.326;0.326;0.468;0.75|0.386	B;B;B;B;B|B	0.43508|0.28139	0.422;0.238;0.238;0.128;0.242|0.086	T|T	0.03268|0.03268	-1.1054|-1.1054	10|8	0.87932|.	D|.	0|.	.|.	10.9188|10.9188	0.47152|0.47152	0.1868:0.8132:0.0:0.0|0.1868:0.8132:0.0:0.0	.|.	575;572;561;595;609|536	Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|F5H402	.;.;.;.;BMAL2_HUMAN|.	V|S	575;572;595;561;609;524|536;561	ENSP00000442438:A575V;ENSP00000379238:A572V;ENSP00000312247:A595V;ENSP00000261178:A561V;ENSP00000266503:A609V;ENSP00000445836:A524V|ENSP00000438545:P536S	ENSP00000261178:A561V|.	A|P	+|+	2|1	0|0	ARNTL2|ARNTL2	27464647|27464647	0.991000|0.991000	0.36638|0.36638	0.873000|0.873000	0.34254|0.34254	0.977000|0.977000	0.68977|0.68977	1.348000|1.348000	0.33987|0.33987	0.761000|0.761000	0.33130|0.33130	0.563000|0.563000	0.77884|0.77884	GCC|CCA	.	.	none		0.458	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		T	27573380	C	T	27573380	3	4	12	1	0	0	0	0	1	0	0	0	968	739	26	2	1892	2	ARNTL2	12	27573380	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	12995230	27573380	106278515	181	2945										
RAPGEF3	10411	hgsc.bcm.edu	37	chr12	48144895	48144895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggagagcagggccacagcttCggccaactcctcctccatct	10	16	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:48144895C>T	ENST00000449771.2	-	6	695	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E203K|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E161K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E161K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E161K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E203K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E161K|RAPGEF3_ENST00000549347.1_5'Flank			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	203					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCCACAGCTTCGGCCAACTCC	0.657																																					p.E203K		Atlas-SNP	.											.	RAPGEF3	98	.	0			c.G607A						PASS	.						22	23	23					12																	48144895		2201	4292	6493	SO:0001583	missense	10411	exon6			CAGCTTCGGCCAA	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.607G>A	12.37:g.48144895C>T	ENSP00000395708:p.Glu203Lys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	184	42	0.228261	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952233	0.73787	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	4.97	4.97	0.65823	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	0.977;1.0;1.0	P;D;D	0.87578	0.611;0.998;0.996	T	0.01074	-1.1460	10	0.27082	T	0.32	.	17.1887	0.86873	0.0:1.0:0.0:0.0	.	215;203;203	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	K	161;203;161;161;161;203;215;161;203;161	ENSP00000384521:E161K;ENSP00000395708:E203K;ENSP00000448619:E161K;ENSP00000171000:E161K;ENSP00000373864:E203K;ENSP00000448480:E161K;ENSP00000378764:E203K;ENSP00000446731:E161K	ENSP00000171000:E161K	E	-	1	0	RAPGEF3	46431162	1.000000	0.71417	0.914000	0.36105	0.338000	0.28826	7.125000	0.77193	2.478000	0.83669	0.561000	0.74099	GAA	.	.	none		0.657	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		T	48144895	C	T	48144895	3	4	12	1	0	0	0	0	1	0	0	0	13045	893	31	1	2256	1	RAPGEF3	12	48144895	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	20571515	48144895	85707000	182	2946										
MLL2	8085	hgsc.bcm.edu	37	chr12	49445040	49445041	+	Frame_Shift_Ins	INS	-	-	G													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caggtgcggctcctcagtctINSggggggacaggtgcaattcc							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:49445040_49445041insG	ENST00000301067.7	-	10	2424_2425	c.2425_2426insC	c.(2425-2427)cagfs	p.Q809fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	809	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCCTCAGTCTGGGGGGACAGG	0.634																																					p.Q809fs		Pindel	.											.	MLL2	1173	.	0			c.2426_2427insC						PASS	.																																			SO:0001589	frameshift_variant	8085	exon10			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2426dupC	12.37:g.49445046_49445046dupG	ENSP00000301067:p.Gln809fs	Somatic	126	.	.		WXS	Illumina HiSeq	Phase_I	286	80	0.28	NM_003482	O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49445041	-	G	49445040	7	5	12	1	0	1	1	0	0	0	0	0	9621	1580	55	0	14367	0	MLL2	12	49445040	Frame_Shift_Ins	INS	-	TCGA-FF-8043-01A-11D-2210-10	1300145	49445040	84406855	183	2947	53	2								
MLL2	8085	hgsc.bcm.edu	37	chr12	49445046	49445047	+	Frame_Shift_Ins	INS	-	-	A													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggctcctcagtctggggggINSacaggtgcaattcctcaggc							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:49445046_49445047insA	ENST00000301067.7	-	10	2418_2419	c.2419_2420insT	c.(2419-2421)tccfs	p.S807fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	807	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTCTGGGGGGACAGGTGCAAT	0.634																																					p.S807fs		Atlas-Indel	.											.	MLL2	1173	.	0			c.2420_2421insT						PASS	.																																			SO:0001589	frameshift_variant	8085	exon10			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2420dupT	12.37:g.49445047_49445047dupA	ENSP00000301067:p.Ser807fs	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	286	172	0.601399	NM_003482	O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49445047	-	A	49445046	7	5	12	1	0	1	1	0	0	0	0	0	9621	1174	41	0	14373	0	MLL2	12	49445046	Frame_Shift_Ins	INS	-	TCGA-FF-8043-01A-11D-2210-10	6	49445046	84406849	184	2948	53	2								
ATF7	11016	hgsc.bcm.edu	37	chr12	53911012	53911012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tttggctggccatctgagtgAggaccgaggtggccacagct	15	10	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:53911012A>G	ENST00000548446.2	-	12	1506	c.1394T>C	c.(1393-1395)cTc>cCc	p.L465P	ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000420353.2_Missense_Mutation_p.L454P|ATF7_ENST00000456903.4_Missense_Mutation_p.L454P|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000328463.7_Missense_Mutation_p.L465P|ATF7_ENST00000415113.1_Missense_Mutation_p.L433P|RP11-793H13.3_ENST00000548347.1_RNA			P17544	ATF7_HUMAN	activating transcription factor 7	465	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CATCTGAGTGAGGACCGAGGT	0.577																																					p.L454P		Atlas-SNP	.											.	ATF7	51	.	0			c.T1361C						PASS	.						103	104	104					12																	53911012		2075	4205	6280	SO:0001583	missense	11016	exon12			TGAGTGAGGACCG	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1394T>C	12.37:g.53911012A>G	ENSP00000449938:p.Leu465Pro	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	147	7	0.047619	NM_006856	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	A	20.8	4.045077	0.75846	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.57107	0.42;0.42;0.58;0.43;0.43	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.993;0.999	T	0.66999	-0.5781	10	0.87932	D	0	-16.28	13.4618	0.61231	1.0:0.0:0.0:0.0	.	433;454;465	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	P	465;465;278;433;454;454	ENSP00000449938:L465P;ENSP00000329212:L465P;ENSP00000404880:L433P;ENSP00000399465:L454P;ENSP00000387406:L454P	ENSP00000304187:L278P	L	-	2	0	ATF7	52197279	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.366000	0.90111	2.087000	0.62958	0.454000	0.30748	CTC	.	.	none		0.577	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		G	53911012	A	G	53911012	3	3	12	1	0	0	0	0	1	0	0	0	1086	304	11	3	94	3	ATF7	12	53911012	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	4465966	53911012	79940883	185	2949										
HOXC13	3229	hgsc.bcm.edu	37	chr12	54333307	54333307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcacccggagccgcgtcacgAcgccctcatccccgtcgaag	11	19	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:54333307A>G	ENST00000243056.3	+	1	773	c.617A>G	c.(616-618)gAc>gGc	p.D206G	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	206					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCGCGTCACGACGCCCTCATC	0.672			T	NUP98	AML																																p.D206G		Atlas-SNP	.		Dom	yes		12	12q13.3	3229	homeo box C13		L	.	HOXC13	24	.	0			c.A617G						PASS	.						18	20	19					12																	54333307		2199	4291	6490	SO:0001583	missense	3229	exon1			GTCACGACGCCCT		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.617A>G	12.37:g.54333307A>G	ENSP00000243056:p.Asp206Gly	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	57	11	0.192982	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606534	0.66445	.	.	ENSG00000123364	ENST00000243056	D	0.93604	-3.25	3.16	3.16	0.36331	.	0.058843	0.64402	D	0.000003	D	0.93158	0.7821	M	0.76574	2.34	0.54753	D	0.999983	P	0.45569	0.861	P	0.46389	0.515	D	0.93361	0.6727	10	0.66056	D	0.02	.	11.3352	0.49500	1.0:0.0:0.0:0.0	.	206	P31276	HXC13_HUMAN	G	206	ENSP00000243056:D206G	ENSP00000243056:D206G	D	+	2	0	HOXC13	52619574	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.443000	0.90320	1.709000	0.51313	0.260000	0.18958	GAC	.	.	none		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			G	54333307	A	G	54333307	3	3	12	1	0	0	0	0	1	0	0	0	7312	275	10	2	619	2	HOXC13	12	54333307	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	422295	54333307	79518588	186	2950										
MSRB3	253827	hgsc.bcm.edu	37	chr12	65857048	65857048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcggatagcagtggcaccgcCgagggaggcagtggggtcgc	20	10	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:65857048C>T	ENST00000355192.3	+	6	651	c.525C>T	c.(523-525)gcC>gcT	p.A175A	MSRB3_ENST00000308259.5_Silent_p.A168A|MSRB3_ENST00000535664.1_Silent_p.A168A	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	175					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTGGCACCGCCGAGGGAGGCA	0.527																																					p.A175A		Atlas-SNP	.											MSRB3_ENST00000355192,colon,carcinoma,+2,4	MSRB3	80	4	0			c.C525T						PASS	.						68	63	65					12																	65857048		2203	4300	6503	SO:0001819	synonymous_variant	253827	exon6			CACCGCCGAGGGA	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.525C>T	12.37:g.65857048C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	190	55	0.289474	NM_198080	B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	CCDS8973.1																																																																																			.	.	none		0.527	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		T	65857048	C	T	65857048	2	4	12	1	0	0	0	0	0	0	0	1	9889	639	23	1		1	MSRB3	12	65857048	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	11523741	65857048	67994847	187	2951										
BTG1	694	hgsc.bcm.edu	37	chr12	92538187	92538187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aacggtaacccgatcccttgCatggcttttctgggaaccag	10	12	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:92538187C>T	ENST00000256015.3	-	2	546	c.185G>A	c.(184-186)tGc>tAc	p.C62Y	RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000551843.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	62					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CGATCCCTTGCATGGCTTTTC	0.463			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C62Y		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	0			c.G185A						PASS	.						119	120	120					12																	92538187		2203	4300	6503	SO:0001583	missense	694	exon2			CCCTTGCATGGCT		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.185G>A	12.37:g.92538187C>T	ENSP00000256015:p.Cys62Tyr	Somatic	118	0	0	1291	WXS	Illumina HiSeq	Phase_I	131	39	0.29771	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081433	0.36758	.	.	ENSG00000133639	ENST00000256015	T	0.22336	1.96	5.81	5.81	0.92471	Anti-proliferative protein (4);	0.139437	0.64402	D	0.000002	T	0.16128	0.0388	L	0.39085	1.19	0.51482	D	0.999929	B	0.06786	0.001	B	0.13407	0.009	T	0.04565	-1.0942	10	0.02654	T	1	-4.1118	15.5494	0.76137	0.0:0.8627:0.1373:0.0	.	62	P62324	BTG1_HUMAN	Y	62	ENSP00000256015:C62Y	ENSP00000256015:C62Y	C	-	2	0	BTG1	91062318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.537000	0.60643	2.738000	0.93877	0.655000	0.94253	TGC	.	.	none		0.463	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			T	92538187	C	T	92538187	3	4	12	1	0	0	0	0	1	0	0	0	1553	710	25	2	334	2	BTG1	12	92538187	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	26681139	92538187	41313708	188	2952										
BTG1	694	hgsc.bcm.edu	37	chr12	92539174	92539180	+	Frame_Shift_Del	DEL	CTCCTGC	CTCCTGC	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccctgctcacctgccagcagCtcctgcaggctctggctgaa					rs377174658|rs199587257|rs200623021|rs549978043		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	CTCCTGC	CTCCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:92539174_92539180delCTCCTGC	ENST00000256015.3	-	1	493_499	c.132_138delGCAGGAG	c.(130-138)ctgcaggagfs	p.LQE44fs	RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	44					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.E46D(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGCCAGCAGCTCCTGCAGGCTCTGGC	0.691			T	MYC	BCLL																																p.45_47del		Pindel,Atlas-Indel	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.133_139del						PASS	.																																			SO:0001589	frameshift_variant	694	exon1			.		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.132_138delGCAGGAG	12.37:g.92539174_92539180delCTCCTGC	ENSP00000256015:p.Leu44fs	Somatic	110	.	.		WXS	Illumina HiSeq	Phase_I	110	25	0.227	NM_001731	P31607	Frame_Shift_Del	DEL	ENST00000256015.3	37	CCDS9043.1																																																																																			.	.	none		0.691	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			-	92539180	CTCCTGC	-	92539174	7	5	12	1	0	1	0	1	0	0	0	0	1553	796	28	0	385	0	BTG1	12	92539174	Frame_Shift_Del	DEL	CTCCTGC	TCGA-FF-8043-01A-11D-2210-10	987	92539174	41312721	189	2953										
NR2C1	7181	hgsc.bcm.edu	37	chr12	95442844	95442844	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaaaaaacatatagaaatacCctgaaagctacatgtgaatc	5	7	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:95442844C>T	ENST00000333003.5	-	9	1461	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	NR2C1_ENST00000393101.3_Splice_Site_p.R377R|NR2C1_ENST00000330677.7_Splice_Site_p.R377R|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	377					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ATAGAAATACCCTGAAAGCTA	0.363																																					p.R377R		Atlas-SNP	.											.	NR2C1	56	.	0			c.G1131A						PASS	.						100	92	95					12																	95442844		2203	4300	6503	SO:0001630	splice_region_variant	7181	exon9			AAATACCCTGAAA	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1131+1G>A	12.37:g.95442844C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	67	24	0.358209	NM_001032287	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																			.	.	none		0.363	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	Silent	T	95442844	C	T	95442844	5	4	12	1	0	0	0	0	0	0	1	0	10622	637	22	2	782	2	NR2C1	12	95442844	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2903670	95442844	38409051	190	2954										
TMEM119	338773	hgsc.bcm.edu	37	chr12	108986031	108986031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaggccgacgagccctcggcCtccccactacccgccacatc	9	21	0	0	rs74504010	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:108986031C>T	ENST00000392806.3	-	2	297	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	43					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGCCCTCGGCCTCCCCACTAC	0.706													C|||	832	0.166134	0.0053	0.1297	5008	,	,		11135	0.3145		0.164	False		,,,				2504	0.2587				p.E43E		Atlas-SNP	.											TMEM119,NS,carcinoma,0,1	TMEM119	31	1	0			c.G129A						scavenged	.	C		156,4214		6,144,2035	8	11	10		129	0.4	1	12	dbSNP_131	10	1399,7135		129,1141,2997	no	coding-synonymous	TMEM119	NM_181724.2		135,1285,5032	TT,TC,CC		16.3933,3.5698,12.0505		43/284	108986031	1555,11349	2185	4267	6452	SO:0001819	synonymous_variant	338773	exon2			CTCGGCCTCCCCA	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.129G>A	12.37:g.108986031C>T		Somatic	4	2	0.5		WXS	Illumina HiSeq	Phase_I	15	8	0.533333	NM_181724	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			C|0.827;T|0.173	0.173	strong		0.706	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		T	108986031	C	T	108986031	2	4	12	1	0	0	0	0	0	0	0	1	16029	680	24	2		2	TMEM119	12	108986031	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	13543187	108986031	24865864	191	2955										
DTX1	1840	hgsc.bcm.edu	37	chr12	113496135	113496135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tacacggccaccgtgtgccaCcacattgagaacgtgctgaa	10	13	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:113496135C>T	ENST00000257600.3	+	1	641	c.138C>T	c.(136-138)caC>caT	p.H46H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	46	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCGTGTGCCACCACATTGAGA	0.652																																					p.H46H		Atlas-SNP	.											.	DTX1	83	.	0			c.C138T						PASS	.						106	92	97					12																	113496135		2203	4300	6503	SO:0001819	synonymous_variant	1840	exon1			GTGCCACCACATT	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.138C>T	12.37:g.113496135C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	93	38	0.408602	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.	.	none		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113496135	C	T	113496135	2	4	12	1	0	0	0	0	0	0	0	1	4793	506	18	2		2	DTX1	12	113496135	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	4510104	113496135	20355760	192	2956										
MLXIP	22877	hgsc.bcm.edu	37	chr12	122516989	122516989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tccgcgccgccagcagatcaTccacagcggccacttcatgg	10	17	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:122516989T>C	ENST00000319080.7	+	1	362	c.230T>C	c.(229-231)aTc>aCc	p.I77T						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGCAGATCATCCACAGCGGC	0.726																																					p.I77T	Esophageal Squamous(105;787 1493 16200 18566 52466)	Atlas-SNP	.											.	MLXIP	46	.	0			c.T230C						PASS	.						35	35	35					12																	122516989		692	1591	2283	SO:0001583	missense	22877	exon1			AGATCATCCACAG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.230T>C	12.37:g.122516989T>C	ENSP00000312834:p.Ile77Thr	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_014938		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	T	27.7	4.857990	0.91433	.	.	ENSG00000175727	ENST00000319080	T	0.22539	1.95	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50575	-0.8812	9	0.87932	D	0	-21.7018	12.1646	0.54123	0.0:0.0:0.0:1.0	.	77	Q9HAP2	MLXIP_HUMAN	T	77	ENSP00000312834:I77T	ENSP00000312834:I77T	I	+	2	0	MLXIP	121001372	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.191000	0.77763	1.611000	0.50210	0.379000	0.24179	ATC	.	.	none		0.726	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		C	122516989	T	C	122516989	3	2	12	1	0	0	0	0	1	0	0	0	9636	1435	50	2	232	2	MLXIP	12	122516989	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	9020854	122516989	11334906	193	2957										
SFRS8	6433	hgsc.bcm.edu	37	chr12	132198771	132198771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcatacggacttgcttgaggAggaggcaaggcaaggtactg	16	7	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr12:132198771A>G	ENST00000261674.4	+	2	515	c.374A>G	c.(373-375)gAg>gGg	p.E125G	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E125G	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	125					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTGCTTGAGGAGGAGGCAAGG	0.393																																					p.E125G		Atlas-SNP	.											.	SFSWAP	69	.	0			c.A374G						PASS	.						98	83	88					12																	132198771		2203	4300	6503	SO:0001583	missense	6433	exon2			TTGAGGAGGAGGC	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.374A>G	12.37:g.132198771A>G	ENSP00000261674:p.Glu125Gly	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_001261411	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400017	0.62177	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000541286	T;T	0.24538	1.85;1.85	5.84	4.68	0.58851	Splicing factor, suppressor of white apricot (1);	0.048341	0.85682	D	0.000000	T	0.53658	0.1810	M	0.85197	2.74	0.80722	D	1	P;P	0.41673	0.699;0.759	P;P	0.60609	0.565;0.877	T	0.57329	-0.7830	10	0.66056	D	0.02	-35.4576	13.2516	0.60055	0.8674:0.1325:0.0:0.0	.	125;125	F5H6B8;Q12872	.;SFSWA_HUMAN	G	125;62;125	ENSP00000261674:E125G;ENSP00000437738:E125G	ENSP00000261674:E125G	E	+	2	0	SFSWAP	130764724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.361000	0.79497	1.017000	0.39495	0.533000	0.62120	GAG	.	.	none		0.393	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		G	132198771	A	G	132198771	3	3	12	1	0	0	0	0	1	0	0	0	14183	304	11	3	380	3	SFRS8	12	132198771	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	9681782	132198771	1653124	194	2958										
FLT1	2321	hgsc.bcm.edu	37	chr13	28964201	28964201	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttcaggtcctctccttccgtCggcattttttccaagttaac	6	13	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:28964201C>T	ENST00000282397.4	-	13	1952	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	FLT1_ENST00000541932.1_Silent_p.P567P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	567	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCTTCCGTCGGCATTTTTT	0.358																																					p.P567P		Atlas-SNP	.											FLT1_ENST00000541932,rectum,carcinoma,-1,2	FLT1	393	2	0			c.G1701A						scavenged	.						113	107	109					13																	28964201		2203	4300	6503	SO:0001819	synonymous_variant	2321	exon13			TTCCGTCGGCATT	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1701G>A	13.37:g.28964201C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																			.	.	none		0.358	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	28964201	C	T	28964201	2	4	12	1	0	0	0	0	0	0	0	1	5941	871	31	1		1	FLT1	13	28964201	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10		28964201	86205677	195	2959										
MTUS2	23281	hgsc.bcm.edu	37	chr13	29608098	29608098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agtccctccaactttctatcGgtcagccatgctccttaagc	6	15	2	0	rs376698099		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:29608098G>A	ENST00000431530.3	+	2	2370	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	761	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTTTCTATCGGTCAGCCATG	0.458																																					p.R771Q		Atlas-SNP	.											MTUS2_ENST00000431530,NS,carcinoma,+1,2	MTUS2	279	2	0			c.G2312A						scavenged	.	G	GLN/ARG	1,3965		0,1,1982	89	86	87		2312	5.5	0.5	13		87	0,8330		0,0,4165	no	missense	MTUS2	NM_001033602.2	43	0,1,6147	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging	771/1380	29608098	1,12295	1983	4165	6148	SO:0001583	missense	23281	exon2			TCTATCGGTCAGC	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2312G>A	13.37:g.29608098G>A	ENSP00000392057:p.Arg771Gln	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	256	3	0.0117188	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701527	0.88924	2.52E-4	0.0	ENSG00000132938	ENST00000431530	T	0.44083	0.93	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000022	T	0.65144	0.2663	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64162	-0.6472	9	.	.	.	.	18.2952	0.90143	0.0:0.0:1.0:0.0	.	761	Q5JR59	MTUS2_HUMAN	Q	771	ENSP00000392057:R771Q	.	R	+	2	0	MTUS2	28506098	1.000000	0.71417	0.513000	0.27749	0.936000	0.57629	6.981000	0.76166	2.543000	0.85770	0.655000	0.94253	CGG	.	.	weak		0.458	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29608098	G	A	29608098	3	1	12	1	0	0	0	0	1	0	0	0	9966	1116	39	1	2318	1	MTUS2	13	29608098	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	643897	29608098	85561780	196	2960										
SMAD9	4093	hgsc.bcm.edu	37	chr13	37441511	37441511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tggcatgataaggcaggggtGgtgtgtcaactaaaagaaag	15	4	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:37441511G>T	ENST00000399275.2	-	3	819	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	SMAD9_ENST00000379826.4_Missense_Mutation_p.P227Q|SMAD9_ENST00000350148.5_Intron			O15198	SMAD9_HUMAN	SMAD family member 9	227					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGCAGGGGTGGTGTGTCAAC	0.448																																					p.P227Q		Atlas-SNP	.											SMAD9_ENST00000379826,colon,carcinoma,0,1	SMAD9	91	1	0			c.C680A						scavenged	.						141	121	128					13																	37441511		692	1591	2283	SO:0001583	missense	4093	exon4			AGGGGTGGTGTGT		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.680C>A	13.37:g.37441511G>T	ENSP00000382216:p.Pro227Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_001127217	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233296	0.58886	.	.	ENSG00000120693	ENST00000399275;ENST00000379826	D;D	0.94687	-3.49;-3.49	3.9	3.05	0.35203	SMAD/FHA domain (1);	0.337447	0.35495	N	0.003179	D	0.93615	0.7961	L	0.56124	1.755	0.49299	D	0.999773	P	0.39883	0.693	P	0.49999	0.628	D	0.89899	0.4043	10	0.30854	T	0.27	.	8.7773	0.34769	0.1075:0.0:0.8925:0.0	.	227	O15198	SMAD9_HUMAN	Q	227	ENSP00000382216:P227Q;ENSP00000369154:P227Q	ENSP00000369154:P227Q	P	-	2	0	SMAD9	36339511	1.000000	0.71417	0.503000	0.27626	0.997000	0.91878	5.333000	0.65917	0.633000	0.30452	0.655000	0.94253	CCA	.	.	none		0.448	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		T	37441511	G	T	37441511	3	4	12	1	0	0	0	0	1	0	0	0	14764	1348	47	4	739	4	SMAD9	13	37441511	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	7833413	37441511	77728367	197	2961										
C13orf18	80183	hgsc.bcm.edu	37	chr13	46942917	46942917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctctggtgagaaggaattcGaagaaatggttcttctactg	11	7	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:46942917G>A	ENST00000429979.1	-	4	1173	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S190L|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S190L|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S33L|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S190L|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S55L|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S33L|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S190L|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S123L	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAAGGAATTCGAAGAAATGGT	0.343																																					p.S190L		Atlas-SNP	.											KIAA0226L,colon,carcinoma,+1,1	KIAA0226L	63	1	0			c.C569T						scavenged	.						126	130	129					13																	46942917		2203	4300	6503	SO:0001583	missense	80183	exon4			GAATTCGAAGAAA	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.569C>T	13.37:g.46942917G>A	ENSP00000396935:p.Ser190Leu	Somatic	61	4	0.0655738		WXS	Illumina HiSeq	Phase_I	74	7	0.0945946	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091798	0.36952	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925;ENST00000417405	T;T;T;T;T;T;T;T	0.39592	1.08;1.1;1.07;1.08;1.1;1.07;1.09;1.08	6.04	0.285	0.15705	.	0.778438	0.11238	N	0.584975	T	0.11495	0.0280	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.29088	-1.0023	10	0.02654	T	1	-0.8662	1.8635	0.03193	0.4786:0.2592:0.1439:0.1183	.	190;33;190;33;190;123;190	E7EMA2;B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;.;K226L_HUMAN;.;.	L	190;190;190;123;190;190;33;33;55;55	ENSP00000368057:S190L;ENSP00000396935:S190L;ENSP00000368074:S190L;ENSP00000368061:S123L;ENSP00000374558:S190L;ENSP00000368064:S190L;ENSP00000437501:S55L;ENSP00000402357:S55L	ENSP00000315633:S33L	S	-	2	0	KIAA0226L	45840918	0.995000	0.38212	0.959000	0.39883	0.818000	0.46254	0.275000	0.18698	-0.099000	0.12263	-1.539000	0.00912	TCG	.	.	none		0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		A	46942917	G	A	46942917	3	1	12	1	0	0	0	0	1	0	0	0	1720	1059	37	1	1467	1	C13orf18	13	46942917	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	9501406	46942917	68226961	198	2962										
NEK5	341676	hgsc.bcm.edu	37	chr13	52684696	52684696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tttagtcctagagaaatctgTacaaaccaaccgaggatcta	7	9	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:52684696T>C	ENST00000355568.4	-	6	469	c.330A>G	c.(328-330)gtA>gtG	p.V110V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAGAAATCTGTACAAACCAAC	0.388																																					p.V110V		Atlas-SNP	.											NEK5,mouth,carcinoma,-2,1	NEK5	189	1	0			c.A330G						scavenged	.						123	103	110					13																	52684696		2203	4300	6503	SO:0001819	synonymous_variant	341676	exon6			AATCTGTACAAAC	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.330A>G	13.37:g.52684696T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	175	3	0.0171429	NM_199289	Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																			.	.	none		0.388	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52684696	T	C	52684696	2	2	12	1	0	0	0	0	0	0	0	1	10327	1625	57	2		2	NEK5	13	52684696	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	5741779	52684696	62485182	199	2963										
CLN5	1203	hgsc.bcm.edu	37	chr13	77570183	77570183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctttctggtgtaatcaaggCgctgcctgcttttttgaggg	12	9	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:77570183C>T	ENST00000377453.3	+	3	1925	c.633C>T	c.(631-633)ggC>ggT	p.G211G	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	162					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GTAATCAAGGCGCTGCCTGCT	0.413																																					p.G211G		Atlas-SNP	.											CLN5,caecum,carcinoma,0,1	CLN5	32	1	0			c.C633T						scavenged	.						164	154	157					13																	77570183		2203	4300	6503	SO:0001819	synonymous_variant	1203	exon3			TCAAGGCGCTGCC		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.633C>T	13.37:g.77570183C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_006493	B3KQK7	Silent	SNP	ENST00000377453.3	37	CCDS9456.1																																																																																			.	.	none		0.413	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		T	77570183	C	T	77570183	2	4	12	1	0	0	0	0	0	0	0	1	3544	755	27	1		1	CLN5	13	77570183	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	24885487	77570183	37599695	200	2964										
FGF14	2259	hgsc.bcm.edu	37	chr13	102375281	102375281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caggcttcgggaccgtttccCcaacatcatgcaaagatggt	10	12	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr13:102375281C>T	ENST00000376143.4	-	5	643	c.644G>A	c.(643-645)gGg>gAg	p.G215E	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.G220E	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	215					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACCGTTTCCCCAACATCATG	0.473																																					p.G220E		Atlas-SNP	.											FGF14_ENST00000376143,NS,carcinoma,-1,2	FGF14	86	2	0			c.G659A						scavenged	.						218	173	188					13																	102375281		2203	4300	6503	SO:0001583	missense	2259	exon5			GTTTCCCCAACAT		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.644G>A	13.37:g.102375281C>T	ENSP00000365313:p.Gly215Glu	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	138	3	0.0217391	NM_175929	Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016431	0.35606	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.77358	-1.09;-0.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	N	0.21373	0.66	0.80722	D	1	B;B	0.16396	0.017;0.001	B;B	0.21360	0.034;0.009	T	0.61402	-0.7070	10	0.23891	T	0.37	.	19.7432	0.96238	0.0:1.0:0.0:0.0	.	220;215	Q92915-2;Q92915	.;FGF14_HUMAN	E	220;215	ENSP00000365301:G220E;ENSP00000365313:G215E	ENSP00000365301:G220E	G	-	2	0	FGF14	101173282	1.000000	0.71417	0.890000	0.34922	0.960000	0.62799	7.487000	0.81328	2.663000	0.90544	0.563000	0.77884	GGG	.	.	none		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			T	102375281	C	T	102375281	3	4	12	1	0	0	0	0	1	0	0	0	5843	623	22	2	103	2	FGF14	13	102375281	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	24805098	102375281	12794597	201	2965										
ACIN1	22985	hgsc.bcm.edu	37	chr14	23548787	23548787	+	Missense_Mutation	SNP	C	C	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgcttgatgctgaacgagaaCgtgaacgtgaccttgatctg					rs55838227|rs34870944|rs61741619	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:23548787C>T	ENST00000262710.1	-	6	2258	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R604H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R586H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R644H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	644	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S643_R644insHS(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAACGAGAACGTGAACGTGA	0.488																																					p.R644H		Atlas-SNP	.											.	ACIN1	147	.	1	Insertion - In frame(1)	upper_aerodigestive_tract(1)	c.G1931A						PASS	.						255	224	235					14																	23548787		2203	4300	6503	SO:0001583	missense	22985	exon6			CGAGAACGTGAAC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1931G>A	14.37:g.23548787C>T	ENSP00000262710:p.Arg644His	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	198	34	0.171717	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061864	0.76187	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	2.29;1.53;2.29	5.46	5.46	0.80206	.	0.000000	0.41001	D	0.000979	T	0.42720	0.1215	L	0.27053	0.805	0.36352	D	0.86012	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.984;0.984	T	0.50808	-0.8784	10	0.59425	D	0.04	-1.7144	14.8141	0.70017	0.0:1.0:0.0:0.0	.	644;644;604	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	644;604;644	ENSP00000262710:R644H;ENSP00000405677:R604H;ENSP00000451328:R644H	ENSP00000262710:R644H	R	-	2	0	ACIN1	22618627	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.398000	0.34554	2.556000	0.86216	0.655000	0.94253	CGT	C|0.985;T|0.015	0.015	strong		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548787	C	T	23548787	3	4	12	1	0	0	0	0	1	0	0	0	142	536	19	1	2297	1	ACIN1	14	23548787	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		23548787	83800753	202	2966	54	2								
ACIN1	22985	hgsc.bcm.edu	37	chr14	23548793	23548793	+	Missense_Mutation	SNP	C	C	T													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgctgaacgagaacgtgaaCgtgaccttgatctggactct					rs80007670	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:23548793C>T	ENST00000262710.1	-	6	2252	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R602H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R584H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R642H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	642	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAACGTGAACGTGACCTTGA	0.478																																					p.R642H		Atlas-SNP	.											.	ACIN1	147	.	0			c.G1925A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	6.2+/-15.9	0,6,2197	258	226	237		1925,1805,1925	3.2	0.8	14	dbSNP_131	237	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	29,29,29	0,30,6473	TT,TC,CC		0.2791,0.1362,0.2307	probably-damaging,probably-damaging,probably-damaging	642/1329,602/1302,642/1342	23548793	30,12976	2203	4300	6503	SO:0001583	missense	22985	exon6			CGTGAACGTGACC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1925G>A	14.37:g.23548793C>T	ENSP00000262710:p.Arg642His	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	204	11	0.0539216	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	9	0.004120879120879121	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	14.59	2.580077	0.46006	0.001362	0.002791	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.39;1.55;2.39	5.05	3.18	0.36537	.	0.000000	0.40144	N	0.001165	T	0.20170	0.0485	L	0.27053	0.805	0.26413	N	0.976231	D;D;D	0.67145	0.992;0.986;0.996	P;P;P	0.51582	0.674;0.475;0.572	T	0.04440	-1.0951	10	0.59425	D	0.04	-4.3727	7.238	0.26079	0.0:0.7908:0.0:0.2092	.	642;642;602	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	642;602;642	ENSP00000262710:R642H;ENSP00000405677:R602H;ENSP00000451328:R642H	ENSP00000262710:R642H	R	-	2	0	ACIN1	22618633	0.984000	0.35163	0.847000	0.33407	0.542000	0.35054	0.703000	0.25646	0.669000	0.31146	-0.216000	0.12614	CGT	C|0.994;T|0.006	0.006	strong		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548793	C	T	23548793	3	4	12	1	0	0	0	0	1	0	0	0	142	536	19	1	2303	1	ACIN1	14	23548793	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	6	23548793	83800747	203	2967	54	2								
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000561013.1_Silent_p.E538E|HOMEZ_ENST00000431326.2_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	108	18	0.166667	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	12	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	196036	23744829	83604711	204	2968										
PPP2R3C	55012	hgsc.bcm.edu	37	chr14	35554804	35554804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtctttcagagatcatgtatCatcaaggtctgcagagtttt	9	7	6	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:35554804C>T	ENST00000261475.5	-	13	1707	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	452					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D452N(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GATCATGTATCATCAAGGTCT	0.378																																					p.D452N		Atlas-SNP	.											PPP2R3C,NS,carcinoma,0,1	PPP2R3C	44	1	1	Substitution - Missense(1)	lung(1)	c.G1354A						scavenged	.						126	116	120					14																	35554804		2202	4300	6502	SO:0001583	missense	55012	exon13			ATGTATCATCAAG	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1354G>A	14.37:g.35554804C>T	ENSP00000261475:p.Asp452Asn	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	106	3	0.0283019	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.240252	0.79912	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	.	.	.	5.72	5.72	0.89469	.	0.093985	0.64402	D	0.000001	T	0.51907	0.1702	L	0.40543	1.245	0.80722	D	1	P	0.44139	0.827	B	0.38020	0.263	T	0.56475	-0.7973	9	0.54805	T	0.06	-12.7813	19.8858	0.96911	0.0:1.0:0.0:0.0	.	452	Q969Q6	P2R3C_HUMAN	N	452;127	.	ENSP00000261475:D452N	D	-	1	0	PPP2R3C	34624555	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.295000	0.78780	2.714000	0.92807	0.579000	0.79373	GAT	.	.	none		0.378	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		T	35554804	C	T	35554804	3	4	12	1	0	0	0	0	1	0	0	0	12390	826	29	2	11	2	PPP2R3C	14	35554804	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	11809975	35554804	71794736	205	2969										
SIPA1L1	26037	hgsc.bcm.edu	37	chr14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acactgatgatttctacatgCggcgcttccggtcccaaaat	8	12	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:72054698C>T	ENST00000555818.1	+	2	457	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	37					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R37W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547																																					p.R37W		Atlas-SNP	.											SIPA1L1,NS,carcinoma,0,2	SIPA1L1	219	2	1	Substitution - Missense(1)	prostate(1)	c.C109T						scavenged	.						87	90	89					14																	72054698		2203	4300	6503	SO:0001583	missense	26037	exon2			TACATGCGGCGCT	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.109C>T	14.37:g.72054698C>T	ENSP00000450832:p.Arg37Trp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365974	0.61513	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.79141	-1.24;-1.23;-1.24	5.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.978;1.0	D;P;D	0.77557	0.99;0.566;0.99	D	0.84354	0.0534	10	0.54805	T	0.06	-17.4715	12.4248	0.55540	0.5159:0.4841:0.0:0.0	.	37;37;37	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	W	37	ENSP00000370630:R37W;ENSP00000450832:R37W;ENSP00000351352:R37W	ENSP00000351352:R37W	R	+	1	2	SIPA1L1	71124451	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.803000	0.47924	1.387000	0.46486	0.655000	0.94253	CGG	.	.	none		0.547	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72054698	C	T	72054698	3	4	12	1	0	0	0	0	1	0	0	0	14329	759	27	1	111	1	SIPA1L1	14	72054698	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	36499894	72054698	35294842	206	2970										
VSX2	338917	hgsc.bcm.edu	37	chr14	74726455	74726455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcaagtcagccaaggatggcAtcatggactcctgtgccccg	11	13	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:74726455A>G	ENST00000261980.2	+	4	820	c.730A>G	c.(730-732)Atc>Gtc	p.I244V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	244	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CAAGGATGGCATCATGGACTC	0.662																																					p.I244V		Atlas-SNP	.											VSX2,NS,carcinoma,-2,1	VSX2	32	1	0			c.A730G						scavenged	.						88	72	78					14																	74726455		2203	4300	6503	SO:0001583	missense	338917	exon4			GATGGCATCATGG	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.730A>G	14.37:g.74726455A>G	ENSP00000261980:p.Ile244Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	120	2	0.0166667	NM_182894	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177785	0.38413	.	.	ENSG00000119614	ENST00000261980	D	0.89552	-2.53	5.13	5.13	0.70059	CVC domain (1);	0.151633	0.64402	D	0.000016	T	0.76271	0.3964	N	0.03608	-0.345	0.42638	D	0.993409	B	0.14805	0.011	B	0.18871	0.023	T	0.71836	-0.4472	10	0.22706	T	0.39	.	15.11	0.72349	1.0:0.0:0.0:0.0	.	244	P58304	VSX2_HUMAN	V	244	ENSP00000261980:I244V	ENSP00000261980:I244V	I	+	1	0	VSX2	73796208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.048000	0.57390	2.157000	0.67596	0.533000	0.62120	ATC	.	.	none		0.662	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		G	74726455	A	G	74726455	3	3	12	1	0	0	0	0	1	0	0	0	17229	217	8	2	744	2	VSX2	14	74726455	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	2671757	74726455	32623085	207	2971										
POMT2	29954	hgsc.bcm.edu	37	chr14	77746416	77746416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgtcattgacccctgagaagCgtaggccctgtggaatagag	13	9	1	3	rs571330846		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:77746416C>T	ENST00000261534.4	-	17	1935	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	578						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CCCTGAGAAGCGTAGGCCCTG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17795	0.0		0.0	False		,,,				2504	0.001				p.R578H		Atlas-SNP	.											POMT2,colon,carcinoma,-1,2	POMT2	47	2	0			c.G1733A						PASS	.						120	99	106					14																	77746416		2203	4300	6503	SO:0001583	missense	29954	exon17			GAGAAGCGTAGGC	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1733G>A	14.37:g.77746416C>T	ENSP00000261534:p.Arg578His	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	116	54	0.465517	NM_013382	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.815127|4.815127	0.90790|0.90790	.|.	.|.	ENSG00000009830|ENSG00000009830	ENST00000556171|ENST00000261534	.|D	.|0.92299	.|-3.01	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	.|0.051252	.|0.85682	.|N	.|0.000000	D|D	0.90113|0.90113	0.6911|0.6911	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|B	.|0.18461	.|0.028	.|B	.|0.14023	.|0.01	D|D	0.86195|0.86195	0.1615|0.1615	5|10	.|0.14656	.|T	.|0.56	-12.6745|-12.6745	14.5883|14.5883	0.68344|0.68344	0.0:0.9299:0.0:0.0701|0.0:0.9299:0.0:0.0701	.|.	.|578	.|Q9UKY4	.|POMT2_HUMAN	T|H	46|578	.|ENSP00000261534:R578H	.|ENSP00000261534:R578H	A|R	-|-	1|2	0|0	POMT2|POMT2	76816169|76816169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.739000|0.739000	0.42172|0.42172	3.812000|3.812000	0.55628|0.55628	1.416000|1.416000	0.47057|0.47057	0.563000|0.563000	0.77884|0.77884	GCT|CGC	.	.	none		0.597	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		T	77746416	C	T	77746416	3	4	12	1	0	0	0	0	1	0	0	0	12246	768	27	1	539	1	POMT2	14	77746416	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3019961	77746416	29603124	208	2972										
TRIP11	9321	hgsc.bcm.edu	37	chr14	92472612	92472612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	taaatgtaaatcatttagggCcacttcactttgaattagct	6	7	2	1	rs376096662		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:92472612C>T	ENST00000267622.4	-	11	2081	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	570					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATTTAGGGCCACTTCACTT	0.303			T	PDGFRB	AML																																p.A570T	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	TRIP11,NS,carcinoma,+2,1	TRIP11	184	1	0			c.G1708A						scavenged	.						112	109	110					14																	92472612		2202	4297	6499	SO:0001583	missense	9321	exon11			TTAGGGCCACTTC	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1708G>A	14.37:g.92472612C>T	ENSP00000267622:p.Ala570Thr	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.571|0.571	-0.840942|-0.840942	0.02692|0.02692	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.03982|.	3.74|.	6.16|6.16	-1.14|-1.14	0.09741|0.09741	.|.	1.274600|.	0.04980|.	N|.	0.465424|.	T|T	0.21921|0.21921	0.0528|0.0528	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.0;0.006|.	B;B|.	0.13407|.	0.002;0.009|.	T|T	0.27872|0.27872	-1.0061|-1.0061	10|5	0.22706|.	T|.	0.39|.	.|.	4.3632|4.3632	0.11211|0.11211	0.3191:0.387:0.0:0.2939|0.3191:0.387:0.0:0.2939	.|.	306;570|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	T|D	570;306|285	ENSP00000267622:A570T|.	ENSP00000267622:A570T|.	A|G	-|-	1|2	0|0	TRIP11|TRIP11	91542365|91542365	0.019000|0.019000	0.18553|0.18553	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.651000|0.651000	0.24873|0.24873	-0.236000|-0.236000	0.09753|0.09753	-0.912000|-0.912000	0.02778|0.02778	GCC|GGC	.	.	alt		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92472612	C	T	92472612	3	4	12	1	0	0	0	0	1	0	0	0	16552	739	26	2	4275	2	TRIP11	14	92472612	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	14726196	92472612	14876928	209	2973										
HSP90AA1	3320	hgsc.bcm.edu	37	chr14	102551314	102551314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	agcctcatcatcgcttacttCtttatcacgttccttctcca	3	15	5	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:102551314C>T	ENST00000216281.8	-	5	890	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E50K|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E351K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	229					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E351Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCGCTTACTTCTTTATCACGT	0.408																																					p.E351K		Atlas-SNP	.											HSP90AA1,NS,carcinoma,0,1	HSP90AA1	65	1	1	Substitution - Missense(1)	breast(1)	c.G1051A						scavenged	.						50	53	52					14																	102551314		2203	4299	6502	SO:0001583	missense	3320	exon6			TTACTTCTTTATC	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.685G>A	14.37:g.102551314C>T	ENSP00000216281:p.Glu229Lys	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	182	4	0.021978	NM_001017963	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.763541	0.89932	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.47	4.47	0.54385	.	0.075524	0.51477	U	0.000094	T	0.53834	0.1821	H	0.94345	3.525	0.80722	D	1	P;D;D	0.56968	0.941;0.978;0.957	D;D;D	0.71414	0.973;0.948;0.933	T	0.70139	-0.4954	10	0.87932	D	0	-23.098	17.1138	0.86683	0.0:1.0:0.0:0.0	.	50;351;229	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	K	229;351;50;160	ENSP00000216281:E229K;ENSP00000335153:E351K;ENSP00000396189:E50K;ENSP00000450712:E160K	ENSP00000216281:E229K	E	-	1	0	HSP90AA1	101621067	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.783000	0.62403	2.200000	0.70718	0.655000	0.94253	GAA	.	.	none		0.408	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		T	102551314	C	T	102551314	3	4	12	1	0	0	0	0	1	0	0	0	7401	922	32	2	1541	2	HSP90AA1	14	102551314	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	10078702	102551314	4798226	210	2974										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102843128	102843128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	actatctcctcaatgccattCcgacaaagatccagaagggt	7	12	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:102843128C>T	ENST00000359520.7	+	2	296	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.P24S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	24					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAATGCCATTCCGACAAAGAT	0.532																																					p.P24S		Atlas-SNP	.											TECPR2,caecum,carcinoma,-2,1	TECPR2	114	1	0			c.C70T						scavenged	.						132	110	118					14																	102843128		2203	4300	6503	SO:0001583	missense	9895	exon2			GCCATTCCGACAA	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.70C>T	14.37:g.102843128C>T	ENSP00000352510:p.Pro24Ser	Somatic	210	2	0.00952381		WXS	Illumina HiSeq	Phase_I	314	4	0.0127389	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735188	0.89482	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.32023	1.47	5.5	5.5	0.81552	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.79123	2.44	0.45025	D	0.998044	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.982	T	0.62992	-0.6736	10	0.87932	D	0	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	24;24;24	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	S	24	ENSP00000352510:P24S	ENSP00000352510:P24S	P	+	1	0	TECPR2	101912881	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.701000	0.68325	2.748000	0.94277	0.655000	0.94253	CCG	.	.	none		0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102843128	C	T	102843128	3	4	12	1	0	0	0	0	1	0	0	0	15741	855	30	2	72	2	TECPR2	14	102843128	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	291814	102843128	4506412	211	2975										
AMN	81693	hgsc.bcm.edu	37	chr14	103394811	103394811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tggcttcaggagccggattcGgcgtctcagacgtgggctcg	16	11	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:103394811G>A	ENST00000299155.5	+	4	289	c.256G>A	c.(256-258)Ggc>Agc	p.G86S		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	86					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCGGATTCGGCGTCTCAGA	0.716																																					p.G86S		Atlas-SNP	.											.	AMN	13	.	0			c.G256A						PASS	.						17	17	17					14																	103394811		2193	4292	6485	SO:0001583	missense	81693	exon4			GGATTCGGCGTCT	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.256G>A	14.37:g.103394811G>A	ENSP00000299155:p.Gly86Ser	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	103	43	0.417476	NM_030943	Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	G	6.859	0.527850	0.13127	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.87887	-2.31	3.33	-3.8	0.04307	.	1.167550	0.06155	N	0.674896	T	0.67887	0.2941	N	0.11560	0.145	0.09310	N	1	B	0.22983	0.078	B	0.20384	0.029	T	0.59752	-0.7395	10	0.06099	T	0.92	-10.4145	5.7356	0.18065	0.2807:0.1937:0.5256:0.0	.	86	Q9BXJ7	AMNLS_HUMAN	S	86;32	ENSP00000299155:G86S	ENSP00000299155:G86S	G	+	1	0	AMN	102464564	0.000000	0.05858	0.063000	0.19743	0.325000	0.28411	-0.484000	0.06528	-0.663000	0.05331	-0.390000	0.06520	GGC	.	.	none		0.716	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			A	103394811	G	A	103394811	3	1	12	1	0	0	0	0	1	0	0	0	580	1116	39	1	270	1	AMN	14	103394811	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	551683	103394811	3954729	212	2976										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418008	105418008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tccacctgggggcccttgagGtccactttgggcatcttcaa	11	13	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr14:105418008G>T	ENST00000333244.5	-	7	3899	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1260						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCCTTGAGGTCCACTTTGG	0.617																																					p.D1260E		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C3780A						PASS	.						85	70	75					14																	105418008		1788	3218	5006	SO:0001583	missense	113146	exon7			CTTGAGGTCCACT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3780C>A	14.37:g.105418008G>T	ENSP00000353114:p.Asp1260Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	209	86	0.411483	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.476	1.096873	0.20552	.	.	ENSG00000185567	ENST00000333244	T	0.01838	4.61	3.99	-2.74	0.05932	.	.	.	.	.	T	0.02342	0.0072	M	0.76328	2.33	0.09310	N	1	B	0.30146	0.27	B	0.28139	0.086	T	0.49606	-0.8922	9	0.05959	T	0.93	.	3.689	0.08339	0.0883:0.1204:0.4663:0.325	.	1260	Q8IVF2	AHNK2_HUMAN	E	1260	ENSP00000353114:D1260E	ENSP00000353114:D1260E	D	-	3	2	AHNAK2	104489053	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.304000	0.08199	-0.748000	0.04753	-1.280000	0.01385	GAC	.	.	none		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105418008	G	T	105418008	3	4	12	1	0	0	0	0	1	0	0	0	415	1252	44	4	13611	4	AHNAK2	14	105418008	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2023197	105418008	1931532	213	2977										
HERC2	8924	hgsc.bcm.edu	37	chr15	28483809	28483809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tttatatcatacaccttcccGtcaatcacagtccagaagcc	4	14	3	1	rs149204675	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:28483809G>A	ENST00000261609.7	-	24	3795	c.3687C>T	c.(3685-3687)gaC>gaT	p.D1229D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACACCTTCCCGTCAATCACAG	0.373													G|||	26	0.00519169	0.0129	0.0	5008	,	,		17942	0.0		0.004	False		,,,				2504	0.0051				p.D1229D		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C3687T						scavenged	.						73	68	70					15																	28483809		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon24			CTTCCCGTCAATC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3687C>T	15.37:g.28483809G>A		Somatic	482	6	0.0124481		WXS	Illumina HiSeq	Phase_I	311	9	0.0289389	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.998;A|0.002	0.002	strong		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28483809	G	A	28483809	2	1	12	1	0	0	0	0	0	0	0	1	7058	1136	40	1		1	HERC2	15	28483809	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10		28483809	74047583	214	2978										
ATPBD4	89978	hgsc.bcm.edu	37	chr15	35830516	35830516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atagagatcttcaacctcatCaccttcacatttggtgtaca	5	11	5	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:35830516C>T	ENST00000256538.4	-	3	297	c.271G>A	c.(271-273)Gat>Aat	p.D91N	DPH6_ENST00000440392.2_Missense_Mutation_p.D91N	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	91					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TCAACCTCATCACCTTCACAT	0.378																																					p.D91N		Atlas-SNP	.											.	ATPBD4	30	.	0			c.G271A						PASS	.						238	207	218					15																	35830516		2201	4298	6499	SO:0001583	missense	89978	exon3			CCTCATCACCTTC		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.271G>A	15.37:g.35830516C>T	ENSP00000256538:p.Asp91Asn	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	163	127	0.779141	NM_001141972	B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175413	0.94807	.	.	ENSG00000134146	ENST00000256538;ENST00000440392	T;T	0.68181	0.91;-0.31	5.75	5.75	0.90469	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-29.0226	20.312	0.98644	0.0:1.0:0.0:0.0	.	91;91	B3KWG1;Q7L8W6	.;ATBD4_HUMAN	N	91	ENSP00000256538:D91N;ENSP00000406976:D91N	ENSP00000256538:D91N	D	-	1	0	ATPBD4	33617808	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.887000	0.69751	2.880000	0.98712	0.655000	0.94253	GAT	.	.	none		0.378	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		T	35830516	C	T	35830516	3	4	12	1	0	0	0	0	1	0	0	0	1202	826	29	2	750	2	ATPBD4	15	35830516	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7346707	35830516	66700876	215	2979										
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369951	65369951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctctacgccatcggcggcgaAttccagaggacgcccatcag	11	15	2	1	rs2919359	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:65369951A>G	ENST00000432196.2	+	1	798	c.798A>G	c.(796-798)gaA>gaG	p.E266E	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	266					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						TCGGCGGCGAATTCCAGAGGA	0.731													g|||	4526	0.903754	0.9107	0.866	5008	,	,		11604	0.9831		0.8439	False		,,,				2504	0.9008				p.E266E		Atlas-SNP	.											.	KBTBD13	9	.	0			c.A798G						PASS	.			3216,294		1470,276,9	4	6	6		798	3.4	0.9	15	dbSNP_101	6	6735,1057		2913,909,74	no	coding-synonymous	KBTBD13	NM_001101362.2		4383,1185,83	GG,GA,AA		13.5652,8.3761,11.9536		266/459	65369951	9951,1351	1755	3896	5651	SO:0001819	synonymous_variant	390594	exon1			CGGCGAATTCCAG		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.798A>G	15.37:g.65369951A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_001101362		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			A|0.109;G|0.891	0.891	strong		0.731	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		G	65369951	A	G	65369951	2	3	12	1	0	0	0	0	0	0	0	1	7992	98	4	2		2	KBTBD13	15	65369951	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	29539435	65369951	37161441	216	2980										
FEM1B	10116	hgsc.bcm.edu	37	chr15	68582376	68582376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gacgccattgaaagtagctgCcgaaagctgtaaagctgatg	12	8	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:68582376C>T	ENST00000306917.4	+	2	1295	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	227					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAAGTAGCTGCCGAAAGCTGT	0.473																																					p.A227V		Atlas-SNP	.											FEM1B,colon,carcinoma,+1,2	FEM1B	38	2	0			c.C680T						scavenged	.						116	109	111					15																	68582376		2200	4298	6498	SO:0001583	missense	10116	exon2			TAGCTGCCGAAAG		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.680C>T	15.37:g.68582376C>T	ENSP00000307298:p.Ala227Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	61	2	0.0327869	NM_015322	O43146	Missense_Mutation	SNP	ENST00000306917.4	37	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178356	0.78564	.	.	ENSG00000169018	ENST00000306917	T	0.68624	-0.34	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78863	-0.2036	10	0.66056	D	0.02	-9.9279	18.9741	0.92728	0.0:1.0:0.0:0.0	.	227	Q9UK73	FEM1B_HUMAN	V	227	ENSP00000307298:A227V	ENSP00000307298:A227V	A	+	2	0	FEM1B	66369430	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	4.062000	0.57492	2.717000	0.92951	0.555000	0.69702	GCC	.	.	none		0.473	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			T	68582376	C	T	68582376	3	4	12	1	0	0	0	0	1	0	0	0	5810	739	26	2	686	2	FEM1B	15	68582376	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	3212425	68582376	33949016	217	2981										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79066981	79066981	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctcaccgtcattgaccacggGcacccatgtgtgcagctggc	11	15	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:79066981G>C	ENST00000388820.4	-	12	2071	c.1861C>G	c.(1861-1863)Ccc>Gcc	p.P621A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	621	Cys-rich.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTGACCACGGGCACCCATGTG	0.632																																					p.P621A		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.C1861G						PASS	.						56	54	55					15																	79066981		2196	4293	6489	SO:0001583	missense	11173	exon12			CCACGGGCACCCA	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1861C>G	15.37:g.79066981G>C	ENSP00000373472:p.Pro621Ala	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505696	0.26949	.	.	ENSG00000136378	ENST00000388820	T	0.00428	7.44	3.61	3.61	0.41365	.	0.145698	0.47852	D	0.000209	T	0.00468	0.0015	M	0.64676	1.99	0.35073	D	0.762647	B;B	0.32071	0.355;0.189	B;B	0.32211	0.142;0.077	T	0.64415	-0.6413	10	0.59425	D	0.04	.	14.4931	0.67665	0.0:0.0:1.0:0.0	.	621;621	A8MQ00;Q9UKP4	.;ATS7_HUMAN	A	621	ENSP00000373472:P621A	ENSP00000373472:P621A	P	-	1	0	ADAMTS7	76854036	1.000000	0.71417	0.960000	0.40013	0.885000	0.51271	4.864000	0.62990	2.044000	0.60594	0.289000	0.19496	CCC	.	.	none		0.632	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79066981	G	C	79066981	3	2	12	1	0	0	0	0	1	0	0	0	271	1203	42	4	3251	4	ADAMTS7	15	79066981	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	10484605	79066981	23464411	218	2982										
CTSH	1512	hgsc.bcm.edu	37	chr15	79220112	79220112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcctttccaggttggaacttGcaataaccatcctgttgagg	10	10	0	1	rs142506062		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr15:79220112G>C	ENST00000220166.5	-	9	751	c.642C>G	c.(640-642)tgC>tgG	p.C214W	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GTTGGAACTTGCAATAACCAT	0.483																																					p.C214W		Atlas-SNP	.											.	CTSH	23	.	0			c.C642G						PASS	.						158	119	132					15																	79220112		2196	4293	6489	SO:0001583	missense	1512	exon9			GAACTTGCAATAA	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.642C>G	15.37:g.79220112G>C	ENSP00000220166:p.Cys214Trp	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	44	28	0.636364	NM_004390	B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264475	0.23136	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	D	0.93712	-3.27	4.94	4.02	0.46733	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97240	0.9890	10	0.87932	D	0	.	9.4585	0.38769	0.0996:0.0:0.9004:0.0	.	214;202	P09668;E9PBP2	CATH_HUMAN;.	W	214;202	ENSP00000220166:C214W	ENSP00000220166:C214W	C	-	3	2	CTSH	77007167	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	2.681000	0.46926	1.094000	0.41399	-0.216000	0.12614	TGC	G|1.000;A|0.000	.	alt		0.483	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		C	79220112	G	C	79220112	3	2	12	1	0	0	0	0	1	0	0	0	4036	1311	46	4	381	4	CTSH	15	79220112	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	153131	79220112	23311280	219	2983										
ATF7IP2	80063	hgsc.bcm.edu	37	chr16	10575768	10575768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctgaattagtagacaaaaccCgagacacacttcctccccag	6	14	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:10575768C>T	ENST00000396560.2	+	12	1938	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ATF7IP2_ENST00000543967.1_Nonsense_Mutation_p.R115*|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.R571*|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGACAAAACCCGAGACACACT	0.458																																					p.R571X		Atlas-SNP	.											ATF7IP2_ENST00000396560,NS,carcinoma,0,1	ATF7IP2	40	1	0			c.C1711T						scavenged	.						102	101	101					16																	10575768		2197	4300	6497	SO:0001587	stop_gained	80063	exon12			AAAACCCGAGACA	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1711C>T	16.37:g.10575768C>T	ENSP00000379808:p.Arg571*	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	80	2	0.025	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	37	6.590210	0.97688	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	.	.	.	5.62	2.32	0.28847	.	1.074000	0.07248	N	0.865345	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5128	7.9603	0.30068	0.3245:0.5184:0.1572:0.0	.	.	.	.	X	115;571;571	.	ENSP00000348799:R571X	R	+	1	2	ATF7IP2	10483269	0.000000	0.05858	0.698000	0.30274	0.830000	0.47004	-0.153000	0.10144	0.681000	0.31386	0.484000	0.47621	CGA	.	.	none		0.458	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		T	10575768	C	T	10575768	4	4	12	1	0	0	0	0	0	1	0	0	1088	644	23	1	1749	1	ATF7IP2	16	10575768	Nonsense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		10575768	79778985	220	2984										
LITAF	9516	hgsc.bcm.edu	37	chr16	11650529	11650529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgtctcttcataggatggagGtgcggatggtgctgaggaag	17	5	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:11650529G>A	ENST00000571688.1	-	2	288	c.58C>T	c.(58-60)Cct>Tct	p.P20S	LITAF_ENST00000574703.1_Missense_Mutation_p.P20S|LITAF_ENST00000570904.1_Missense_Mutation_p.P20S|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Missense_Mutation_p.P20S|LITAF_ENST00000574763.1_Missense_Mutation_p.P20S|LITAF_ENST00000339430.5_Missense_Mutation_p.P20S|LITAF_ENST00000571976.1_Missense_Mutation_p.P20S|LITAF_ENST00000381810.3_Missense_Mutation_p.P20S|LITAF_ENST00000571459.1_Missense_Mutation_p.P20S|LITAF_ENST00000576036.1_Missense_Mutation_p.P20S	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	20					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						TAGGATGGAGGTGCGGATGGT	0.532																																					p.P20S		Atlas-SNP	.											.	LITAF	16	.	0			c.C58T						PASS	.						95	87	90					16																	11650529		2197	4300	6497	SO:0001583	missense	9516	exon2			ATGGAGGTGCGGA	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.58C>T	16.37:g.11650529G>A	ENSP00000459533:p.Pro20Ser	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	309	40	0.12945	NM_001136473	D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	CCDS32386.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316524	0.60524	.	.	ENSG00000189067	ENST00000339430;ENST00000413364;ENST00000381810	D;D;D	0.93189	-2.45;-3.18;-2.52	5.63	5.63	0.86233	.	0.065688	0.64402	D	0.000010	D	0.95579	0.8563	L	0.52364	1.645	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.95558	0.8627	10	0.59425	D	0.04	-23.8973	17.2034	0.86912	0.0:0.0:1.0:0.0	.	20;20;20	Q99732-2;G5E9K0;Q99732	.;.;LITAF_HUMAN	S	20	ENSP00000340118:P20S;ENSP00000397958:P20S;ENSP00000371231:P20S	ENSP00000340118:P20S	P	-	1	0	LITAF	11558030	1.000000	0.71417	0.451000	0.26982	0.146000	0.21551	5.921000	0.70028	2.652000	0.90054	0.655000	0.94253	CCT	.	.	none		0.532	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		A	11650529	G	A	11650529	3	1	12	1	0	0	0	0	1	0	0	0	8830	1261	44	2	525	2	LITAF	16	11650529	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1074761	11650529	78704224	221	2985										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16162160	16162160	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcatcagcagcatcgtgcagGtacagggggaagctggggcg	17	9	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:16162160G>A	ENST00000399410.3	+	13	1999		c.e13+1		ABCC1_ENST00000346370.5_Splice_Site|ABCC1_ENST00000349029.5_Splice_Site|ABCC1_ENST00000399408.2_Splice_Site|ABCC1_ENST00000351154.5_Splice_Site|ABCC1_ENST00000345148.5_Splice_Site	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1						arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CATCGTGCAGGTACAGGGGGA	0.597																																					.		Atlas-SNP	.											.	ABCC1	156	.	0			c.1824+1G>A						PASS	.						142	131	134					16																	16162160		2003	4168	6171	SO:0001630	splice_region_variant	4363	exon13			GTGCAGGTACAGG	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1824+1G>A	16.37:g.16162160G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	159	102	0.641509	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967961	0.74131	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0161	0.80441	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC1	16069661	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	9.413000	0.97351	2.108000	0.64289	0.462000	0.41574	.	.	.	none		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	Intron	A	16162160	G	A	16162160	5	1	12	1	0	0	0	0	0	0	1	0	49	1275	44	2	1875	2	ABCC1	16	16162160	Splice_Site	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4511631	16162160	74192593	222	2986										
SMG1	23049	hgsc.bcm.edu	37	chr16	18887501	18887501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcagggcactgaggtcaaatAtaactacaaattttgcattg	8	7	2	1	rs17842615	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:18887501A>T	ENST00000446231.2	-	13	2247	c.1835T>A	c.(1834-1836)aTa>aAa	p.I612K	SMG1_ENST00000565224.1_Missense_Mutation_p.I586K|SMG1_ENST00000389467.3_Missense_Mutation_p.I612K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	612	Interaction with SMG8 and SMG9.		I -> K. {ECO:0000269|PubMed:15175154, ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGGTCAAATATAACTACAAA	0.368																																					p.I612K		Atlas-SNP	.											SMG1_ENST00000446231,NS,carcinoma,0,1	SMG1	401	1	0			c.T1835A						scavenged	.						83	80	81					16																	18887501		1818	4073	5891	SO:0001583	missense	23049	exon13			TCAAATATAACTA	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1835T>A	16.37:g.18887501A>T	ENSP00000402515:p.Ile612Lys	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	443	5	0.0112867	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456191	0.43634	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.40756	1.02;1.02	5.34	4.23	0.50019	Armadillo-type fold (1);	0.070231	0.51477	N	0.000081	T	0.33760	0.0874	L	0.36672	1.1	0.50632	D	0.999885	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.72032	D	0.01	.	11.5067	0.50471	0.8653:0.0:0.0:0.1347	rs17842615	612	Q96Q15	SMG1_HUMAN	K	612	ENSP00000402515:I612K;ENSP00000374118:I612K	ENSP00000374118:I612K	I	-	2	0	SMG1	18795002	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.473000	0.81007	0.827000	0.34685	-0.669000	0.03829	ATA	A|0.660;T|0.340	0.340	strong		0.368	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18887501	A	T	18887501	3	4	12	1	0	0	0	0	1	0	0	0	14795	449	16	5	9354	5	SMG1	16	18887501	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	2725341	18887501	71467252	223	2987										
TMC7	79905	hgsc.bcm.edu	37	chr16	19027805	19027805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acacaaatgaagtatctctcCgaatgggaccagtggaagcg	11	9	1	1	rs547245832		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:19027805C>T	ENST00000304381.5	+	3	475	c.345C>T	c.(343-345)tcC>tcT	p.S115S	TMC7_ENST00000421369.3_Silent_p.S5S|TMC7_ENST00000569532.1_Silent_p.S115S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	115					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGTATCTCTCCGAATGGGACC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		22009	0.0		0.0	False		,,,				2504	0.001				p.S115S		Atlas-SNP	.											TMC7,NS,carcinoma,+1,1	TMC7	75	1	0			c.C345T						scavenged	.						126	102	110					16																	19027805		2197	4300	6497	SO:0001819	synonymous_variant	79905	exon3			TCTCTCCGAATGG	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.345C>T	16.37:g.19027805C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	322	4	0.0124224	NM_024847	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	CCDS10573.1																																																																																			.	.	none		0.512	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		T	19027805	C	T	19027805	2	4	12	1	0	0	0	0	0	0	0	1	15987	639	23	1		1	TMC7	16	19027805	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	140304	19027805	71326948	224	2988										
TMC5	79838	hgsc.bcm.edu	37	chr16	19481009	19481009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgccttctctagcatggcCaagtatttccggaacaactt	7	12	2	0	rs145726955		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:19481009C>T	ENST00000396229.2	+	10	2393	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A	TMC5_ENST00000381414.4_Silent_p.A548A|TMC5_ENST00000541464.1_Silent_p.A548A|TMC5_ENST00000219821.5_Silent_p.A302A|TMC5_ENST00000564959.1_Silent_p.A231A|TMC5_ENST00000542583.2_Silent_p.A548A|TMC5_ENST00000561503.1_Silent_p.A189A	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	548					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTAGCATGGCCAAGTATTTCC	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17834	0.0		0.0	False		,,,				2504	0.0				p.A548A		Atlas-SNP	.											.	TMC5	169	.	0			c.C1644T						PASS	.	C	,,	8,4386	14.3+/-33.2	0,8,2189	112	103	106		1644,1644,906	2.5	1	16	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TMC5	NM_001105248.1,NM_001105249.1,NM_024780.4	,,	0,8,6489	TT,TC,CC		0.0,0.1821,0.0616	,,	548/1007,548/949,302/761	19481009	8,12986	2197	4300	6497	SO:0001819	synonymous_variant	79838	exon10			CATGGCCAAGTAT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1644C>T	16.37:g.19481009C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	304	94	0.309211	NM_001105249	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	CCDS45431.1																																																																																			C|0.999;T|0.001	0.001	strong		0.473	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19481009	C	T	19481009	2	4	12	1	0	0	0	0	0	0	0	1	15985	581	21	2		2	TMC5	16	19481009	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	453204	19481009	70873744	225	2989										
CP110	9738	hgsc.bcm.edu	37	chr16	19556216	19556216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acttcaggaaagagtgttagCtcaggtaaatacatggatcc	10	7	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:19556216C>T	ENST00000381396.5	+	9	2829	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	CCP110_ENST00000396208.2_Missense_Mutation_p.A861V|CCP110_ENST00000396212.2_Missense_Mutation_p.A861V	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	861					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AGAGTGTTAGCTCAGGTAAAT	0.338																																					p.A861V		Atlas-SNP	.											.	CCP110	57	.	0			c.C2582T						PASS	.						106	105	105					16																	19556216		2197	4300	6497	SO:0001583	missense	9738	exon9			TGTTAGCTCAGGT	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2582C>T	16.37:g.19556216C>T	ENSP00000370803:p.Ala861Val	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	405	159	0.392593	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795586	0.90453	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17370	2.28;2.29;2.28	5.48	5.48	0.80851	.	0.057778	0.64402	D	0.000002	T	0.38161	0.1030	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	D;D	0.67103	0.949;0.949	T	0.01757	-1.1280	10	0.39692	T	0.17	-16.6553	19.364	0.94454	0.0:1.0:0.0:0.0	.	861;861	O43303;O43303-2	CP110_HUMAN;.	V	861	ENSP00000379515:A861V;ENSP00000370803:A861V;ENSP00000379511:A861V	ENSP00000370803:A861V	A	+	2	0	CCP110	19463717	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	4.349000	0.59385	2.547000	0.85894	0.655000	0.94253	GCT	.	.	none		0.338	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		T	19556216	C	T	19556216	3	4	12	1	0	0	0	0	1	0	0	0	3788	797	28	2	2612	2	CP110	16	19556216	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	75207	19556216	70798537	226	2990										
SULT1A1	6817	hgsc.bcm.edu	37	chr16	28618318	28618318	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aagctgtcccaggtcccaggCtcagggtgcaccttggccat	12	14	1	0	rs1042014	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:28618318C>G	ENST00000395607.1	-	5	726	c.453G>C	c.(451-453)gaG>gaC	p.E151D	SULT1A1_ENST00000569554.1_Missense_Mutation_p.E151D|SULT1A1_ENST00000314752.7_Missense_Mutation_p.E151D|SULT1A1_ENST00000395609.1_Missense_Mutation_p.E151D|SULT1A1_ENST00000350842.4_Missense_Mutation_p.E73D	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	151			E -> D (in dbSNP:rs1042014).|E -> Q (in dbSNP:rs1042011).		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGGTCCCAGGCTCAGGGTGCA	0.562																																					p.E151D		Atlas-SNP	.											.	SULT1A1	53	.	0			c.G453C						PASS	.						226	167	187					16																	28618318		2197	4300	6497	SO:0001583	missense	6817	exon4			CCCAGGCTCAGGG	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.453G>C	16.37:g.28618318C>G	ENSP00000378971:p.Glu151Asp	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	393	248	0.631043	NM_177534	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.097513	0.00360	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	2.42	-4.84	0.03151	Sulfotransferase domain (1);	0.388985	0.26345	N	0.024915	T	0.44808	0.1311	N	0.02345	-0.59	0.22034	N	0.999403	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.55354	-0.8154	10	0.02654	T	1	.	0.2745	0.00236	0.3382:0.2548:0.1587:0.2483	rs1042014;rs1042014	103;73;151	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	D	151;73;151;151	ENSP00000321988:E151D;ENSP00000329399:E73D;ENSP00000378972:E151D;ENSP00000378971:E151D	ENSP00000321988:E151D	E	-	3	2	SULT1A1	28525819	0.000000	0.05858	0.817000	0.32601	0.539000	0.34962	-2.571000	0.00913	-2.066000	0.00886	-0.840000	0.03056	GAG	C|0.970;G|0.030	0.030	strong		0.562	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		G	28618318	C	G	28618318	3	3	12	1	0	0	0	0	1	0	0	0	15371	796	28	4	450	4	SULT1A1	16	28618318	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9062102	28618318	61736435	227	2991										
TUFM	7284	hgsc.bcm.edu	37	chr16	28854369	28854369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctagaccggtgccaatagtcCggttgccatctcgcagggtg	13	12	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:28854369C>T	ENST00000313511.3	-	10	1433	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	429					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GCCAATAGTCCGGTTGCCATC	0.542																																					p.R432Q		Atlas-SNP	.											TUFM,colon,carcinoma,-1,1	TUFM	33	1	0			c.G1295A						PASS	.						171	142	152					16																	28854369		2197	4300	6497	SO:0001583	missense	7284	exon10			ATAGTCCGGTTGC	L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1295G>A	16.37:g.28854369C>T	ENSP00000322439:p.Arg432Gln	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_003321	O15276	Missense_Mutation	SNP	ENST00000313511.3	37	CCDS10642.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734727	0.48939	.	.	ENSG00000178952	ENST00000313511	T	0.73258	-0.73	4.92	2.46	0.29980	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.448187	0.22595	N	0.058034	T	0.57740	0.2074	L	0.38838	1.175	0.25971	N	0.982508	B	0.12013	0.005	B	0.10450	0.005	T	0.55438	-0.8141	10	0.87932	D	0	-5.2056	8.3795	0.32463	0.0:0.6754:0.0:0.3246	.	429	P49411	EFTU_HUMAN	Q	432	ENSP00000322439:R432Q	ENSP00000322439:R432Q	R	-	2	0	TUFM	28761870	0.522000	0.26266	1.000000	0.80357	0.871000	0.50021	0.842000	0.27627	0.870000	0.35726	0.655000	0.94253	CGG	.	.	none		0.542	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214140.1	NM_003321		T	28854369	C	T	28854369	3	4	12	1	0	0	0	0	1	0	0	0	16768	652	23	1	76	1	TUFM	16	28854369	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	236051	28854369	61500384	228	2992										
RNF40	9810	hgsc.bcm.edu	37	chr16	30776604	30776604	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acatcgagaagctgcggaagCgagagcaaaagctcaataag	12	8	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:30776604C>T	ENST00000324685.6	+	7	1309	c.874C>T	c.(874-876)Cga>Tga	p.R292*	C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000357890.5_Nonsense_Mutation_p.R292*|RNF40_ENST00000563683.1_Nonsense_Mutation_p.R292*|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	292					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTGCGGAAGCGAGAGCAAAA	0.597																																					p.R292X		Atlas-SNP	.											RNF40,NS,carcinoma,-1,2	RNF40	83	2	0			c.C874T						scavenged	.						106	103	104					16																	30776604		2197	4300	6497	SO:0001587	stop_gained	9810	exon7			CGGAAGCGAGAGC	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.874C>T	16.37:g.30776604C>T	ENSP00000325677:p.Arg292*	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	118	2	0.0169492	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Nonsense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.396305	0.97533	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	.	.	.	5.66	5.66	0.87406	.	0.057067	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.844	14.0697	0.64852	0.1514:0.8486:0.0:0.0	.	.	.	.	X	292;292;141	.	ENSP00000325677:R292X	R	+	1	2	RNF40	30684105	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.393000	0.34497	2.667000	0.90743	0.563000	0.77884	CGA	.	.	none		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		T	30776604	C	T	30776604	4	4	12	1	0	0	0	0	0	1	0	0	13493	760	27	1	896	1	RNF40	16	30776604	Nonsense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1922235	30776604	59578149	229	2993										
CDH5	1003	hgsc.bcm.edu	37	chr16	66423379	66423379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcgggcacggccaccgtgctGgtcactctgcaagacatcaa	11	14	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:66423379G>A	ENST00000341529.3	+	5	883	c.735G>A	c.(733-735)ctG>ctA	p.L245L	CDH5_ENST00000563425.2_Silent_p.L245L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	245	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCACCGTGCTGGTCACTCTGC	0.627																																					p.L245L		Atlas-SNP	.											.	CDH5	111	.	0			c.G735A						PASS	.						64	62	63					16																	66423379		2202	4300	6502	SO:0001819	synonymous_variant	1003	exon5			CGTGCTGGTCACT	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.735G>A	16.37:g.66423379G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	91	57	0.626374	NM_001795	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	CCDS10804.1																																																																																			.	.	none		0.627	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		A	66423379	G	A	66423379	2	1	12	1	0	0	0	0	0	0	0	1	3113	1335	47	2		2	CDH5	16	66423379	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	35646775	66423379	23931374	230	2994										
CDH5	1003	hgsc.bcm.edu	37	chr16	66423409	66423409	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caagacatcaatgacaacttCcccttcttcacccagagtga	5	14	3	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:66423409C>T	ENST00000341529.3	+	5	913	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CDH5_ENST00000563425.2_Silent_p.F255F	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	255	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATGACAACTTCCCCTTCTTCA	0.612																																					p.F255F		Atlas-SNP	.											.	CDH5	111	.	0			c.C765T						PASS	.						59	57	58					16																	66423409		2202	4300	6502	SO:0001819	synonymous_variant	1003	exon5			CAACTTCCCCTTC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.765C>T	16.37:g.66423409C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	82	5	0.0609756	NM_001795	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	CCDS10804.1																																																																																			.	.	none		0.612	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66423409	C	T	66423409	2	4	12	1	0	0	0	0	0	0	0	1	3113	854	30	2		2	CDH5	16	66423409	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	30	66423409	23931344	231	2995										
CES3	23491	hgsc.bcm.edu	37	chr16	67005096	67005096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atgtgccccctgagatgatgCccaccgtcatagatgaatac	9	12	1	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:67005096C>T	ENST00000303334.4	+	10	1236	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	CES3_ENST00000543856.1_Missense_Mutation_p.P28S|CES3_ENST00000394037.1_Missense_Mutation_p.P389S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	389						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.P389A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGAGATGATGCCCACCGTCAT	0.562																																					p.P389S		Atlas-SNP	.											CES3,NS,carcinoma,0,1	CES3	56	1	1	Substitution - Missense(1)	kidney(1)	c.C1165T						scavenged	.						93	76	82					16																	67005096		2200	4300	6500	SO:0001583	missense	23491	exon10			ATGATGCCCACCG	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1165C>T	16.37:g.67005096C>T	ENSP00000304782:p.Pro389Ser	Somatic	114	2	0.0175439		WXS	Illumina HiSeq	Phase_I	76	2	0.0263158	NM_024922	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	5.113	0.206531	0.09704	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.66099	-0.19;-0.19;-0.19	4.44	-4.44	0.03557	Carboxylesterase, type B (1);	1.930530	0.02886	N	0.133453	T	0.50069	0.1594	L	0.39397	1.21	0.09310	N	1	B;B	0.28512	0.214;0.003	B;B	0.24701	0.055;0.01	T	0.41592	-0.9500	10	0.54805	T	0.06	.	6.8381	0.23947	0.0:0.4035:0.3818:0.2147	.	28;389	F5H242;Q6UWW8	.;EST3_HUMAN	S	389;389;28	ENSP00000304782:P389S;ENSP00000377602:P389S;ENSP00000445559:P28S	ENSP00000304782:P389S	P	+	1	0	CES3	65562597	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.738000	0.04871	-1.160000	0.02804	-0.230000	0.12252	CCC	.	.	none		0.562	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		T	67005096	C	T	67005096	3	4	12	1	0	0	0	0	1	0	0	0	3271	739	26	2	1203	2	CES3	16	67005096	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	581687	67005096	23349657	232	2996										
NQO1	1728	hgsc.bcm.edu	37	chr16	69745172	69745172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gacttggaagccacagaaatGcagaatgccactctgaggat	11	9	1	3	rs148539025	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:69745172G>A	ENST00000320623.5	-	6	1043	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	NQO1_ENST00000561500.1_Missense_Mutation_p.H140Y|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.H106Y|NQO1_ENST00000564043.1_Missense_Mutation_p.H157Y|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000379047.3_Missense_Mutation_p.H144Y|NQO1_ENST00000379046.2_Missense_Mutation_p.H140Y	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	178					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)	CCACAGAAATGCAGAATGCCA	0.458													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21546	0.0		0.0	False		,,,				2504	0.0				p.H178Y		Atlas-SNP	.											.	NQO1	21	.	0			c.C532T						PASS	.	G	TYR/HIS,TYR/HIS,TYR/HIS	4,4392	8.1+/-20.4	0,4,2194	132	135	134		532,430,418	1.3	1	16	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	NQO1	NM_000903.2,NM_001025433.1,NM_001025434.1	83,83,83	0,5,6493	AA,AG,GG		0.0116,0.091,0.0385	benign,benign,benign	178/275,144/241,140/237	69745172	5,12991	2198	4300	6498	SO:0001583	missense	1728	exon6			AGAAATGCAGAAT	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.532C>T	16.37:g.69745172G>A	ENSP00000319788:p.His178Tyr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_000903	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193510	0.38707	9.1E-4	1.16E-4	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.10099	2.91;3.15;3.15;3.15	5.41	1.26	0.21427	Flavodoxin-like fold (1);	0.392618	0.30428	N	0.009659	T	0.05823	0.0152	N	0.16478	0.41	0.32949	D	0.51943	B;B;B;B	0.18610	0.005;0.029;0.006;0.028	B;B;B;B	0.23716	0.005;0.048;0.005;0.014	T	0.36040	-0.9764	10	0.12430	T	0.62	-2.5129	9.1805	0.37138	0.3053:0.0:0.6947:0.0	.	106;140;144;178	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	Y	178;144;140;106	ENSP00000319788:H178Y;ENSP00000368335:H144Y;ENSP00000368334:H140Y;ENSP00000398330:H106Y	ENSP00000319788:H178Y	H	-	1	0	NQO1	68302673	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.942000	0.40243	0.355000	0.24131	0.655000	0.94253	CAT	G|1.000;A|0.000	0.000	weak		0.458	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			A	69745172	G	A	69745172	3	1	12	1	0	0	0	0	1	0	0	0	10611	1319	46	2	296	2	NQO1	16	69745172	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2740076	69745172	20609581	233	2997										
PRDM7	11105	hgsc.bcm.edu	37	chr16	90126766	90126766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tacctctccctgccatgagcTctttcttccacttgctgccc	5	18	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr16:90126766T>C	ENST00000449207.2	-	9	1235	c.1216A>G	c.(1216-1218)Agc>Ggc	p.S406G	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	406					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCCATGAGCTCTTTCTTCCA	0.463																																					p.S406G		Atlas-SNP	.											PRDM7_ENST00000449207,rectum,carcinoma,+2,1	PRDM7	53	1	0			c.A1216G						scavenged	.						95	98	97					16																	90126766		1902	4106	6008	SO:0001583	missense	11105	exon9			ATGAGCTCTTTCT	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1216A>G	16.37:g.90126766T>C	ENSP00000396732:p.Ser406Gly	Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	175	5	0.0285714	NM_001098173	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	2.134	-0.398387	0.04865	.	.	ENSG00000126856	ENST00000449207	T	0.17691	2.26	2.23	0.846	0.18955	.	.	.	.	.	T	0.07728	0.0194	N	0.08118	0	0.21604	N	0.999627	B	0.32409	0.37	B	0.35688	0.208	T	0.37776	-0.9691	8	.	.	.	-2.6838	4.5243	0.11975	0.0:0.0:0.3449:0.6551	.	406	Q9NQW5	PRDM7_HUMAN	G	406	ENSP00000396732:S406G	.	S	-	1	0	PRDM7	88654267	0.064000	0.20934	0.318000	0.25279	0.103000	0.19146	0.283000	0.18846	0.999000	0.39023	0.397000	0.26171	AGC	.	.	none		0.463	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			C	90126766	T	C	90126766	3	2	12	1	0	0	0	0	1	0	0	0	12461	1551	54	3	270	3	PRDM7	16	90126766	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	20381594	90126766	227987	234	2998										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386300	7386300	+	Missense_Mutation	SNP	G	G	A													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggaacctcagctgtgagaggGaagggaaggtggaggagtga							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:7386300G>A	ENST00000412468.2	+	2	1112	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)											CTGTGAGAGGGAAGGGAAGGT	0.557																																					p.E333K		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,-1,1	.	.	1	0			c.G997A						scavenged	.						60	59	59					17																	7386300		2203	4300	6503	SO:0001583	missense	643664	exon2			GAGAGGGAAGGGA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.997G>A	17.37:g.7386300G>A	ENSP00000396523:p.Glu333Lys	Somatic	142	3	0.0211268		WXS	Illumina HiSeq	Phase_I	100	6	0.06	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322479	0.01320	.	.	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.69	1.44	0.22558	.	.	.	.	.	T	0.14056	0.0340	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.37526	-0.9702	9	0.02654	T	1	-0.2286	4.7772	0.13185	0.2637:0.1728:0.5636:0.0	.	333	P0C7Q6	S35G6_HUMAN	K	333	ENSP00000396523:E333K	ENSP00000396523:E333K	E	+	1	0	SLC35G6	7327024	1.000000	0.71417	0.321000	0.25320	0.451000	0.32288	4.403000	0.59729	0.499000	0.27970	-0.225000	0.12378	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386300	G	A	7386300	3	1	12	1	0	0	0	0	1	0	0	0	561	1175	41	2	1003	2	AMAC1L3	17	7386300	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		7386300	73808910	235	2999	55	2								
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386301	7386301	+	Missense_Mutation	SNP	A	A	C													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaacctcagctgtgagagggAagggaaggtggaggagtgag							TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:7386301A>C	ENST00000412468.2	+	2	1113	c.998A>C	c.(997-999)gAa>gCa	p.E333A	POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)		p.E333A(1)									TGTGAGAGGGAAGGGAAGGTG	0.557																																					p.E333A		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.A998C						scavenged	.						60	58	59					17																	7386301		2203	4300	6503	SO:0001583	missense	643664	exon2			AGAGGGAAGGGAA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.998A>C	17.37:g.7386301A>C	ENSP00000396523:p.Glu333Ala	Somatic	142	4	0.028169		WXS	Illumina HiSeq	Phase_I	98	6	0.0612245	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.225018	0.06022	.	.	ENSG00000181222	ENST00000412468	T	0.26067	1.76	4.69	1.0	0.19881	.	.	.	.	.	T	0.15609	0.0376	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.22626	-1.0211	9	0.36615	T	0.2	-0.2286	5.7938	0.18375	0.4278:0.471:0.1012:0.0	.	333	P0C7Q6	S35G6_HUMAN	A	333	ENSP00000396523:E333A	ENSP00000396523:E333A	E	+	2	0	SLC35G6	7327025	0.886000	0.30341	0.428000	0.26697	0.484000	0.33280	1.649000	0.37281	0.732000	0.32470	0.477000	0.44152	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386301	A	C	7386301	3	2	12	1	0	0	0	0	1	0	0	0	561	246	9	5	1004	5	AMAC1L3	17	7386301	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1	7386301	73808909	236	3000	55	2								
TP53	7157	hgsc.bcm.edu	37	chr17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggggcagcgcctcacaacctCcgtcatgtgctgtgactgct	12	14	2	1	rs587781845		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:7578419C>A	ENST00000269305.4	-	5	700	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.E171*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCACAACCTCCGTCATGTGC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.E171X	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,bladder,carcinoma,0,47	TP53	33396	47	57	Substitution - Missense(17)|Deletion - Frameshift(15)|Substitution - Nonsense(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Insertion - In frame(1)	urinary_tract(8)|lung(8)|breast(8)|oesophagus(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|skin(3)|upper_aerodigestive_tract(2)|thyroid(1)|kidney(1)|endometrium(1)|liver(1)|ovary(1)	c.G511T						PASS	.						52	52	52					17																	7578419		2203	4300	6503	SO:0001587	stop_gained	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	CAACCTCCGTCAT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.511G>T	17.37:g.7578419C>A	ENSP00000269305:p.Glu171*	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	83	72	0.86747	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186918	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	5.47	0.80525	.	0.106949	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.8225	17.1938	0.86887	0.0:1.0:0.0:0.0	.	.	.	.	X	171;171;171;171;171;171;160;78;39;78;39	.	ENSP00000269305:E171X	E	-	1	0	TP53	7519144	1.000000	0.71417	0.689000	0.30133	0.389000	0.30415	7.775000	0.85489	2.735000	0.93741	0.563000	0.77884	GAG	.	.	none		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578419	C	A	7578419	4	1	12	1	0	0	0	0	0	1	0	0	16378	864	30	4	787	4	TP53	17	7578419	Nonsense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	192118	7578419	73616791	237	3001										
MYH4	4622	hgsc.bcm.edu	37	chr17	10369672	10369672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gagtcatcatggccatgtccTcgatcttgtcatatttggga	10	9	4	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:10369672T>C	ENST00000255381.2	-	4	376	c.266A>G	c.(265-267)gAg>gGg	p.E89G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	89	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCCATGTCCTCGATCTTGTC	0.443																																					p.E89G		Atlas-SNP	.											MYH4,caecum,carcinoma,-1,1	MYH4	349	1	0			c.A266G						scavenged	.						263	229	241					17																	10369672		2203	4300	6503	SO:0001583	missense	4622	exon4			ATGTCCTCGATCT		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.266A>G	17.37:g.10369672T>C	ENSP00000255381:p.Glu89Gly	Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	195	4	0.0205128	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895249	0.91962	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	T	0.73469	-0.75	4.74	4.74	0.60224	Myosin head, motor domain (2);	0.000000	0.37761	U	0.001951	D	0.88081	0.6341	M	0.90082	3.085	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.90709	0.4626	10	0.87932	D	0	.	14.6752	0.68975	0.0:0.0:0.0:1.0	.	89	Q9Y623	MYH4_HUMAN	G	89	ENSP00000255381:E89G	ENSP00000431873:E89G	E	-	2	0	MYH2;MYH4	10310397	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.761000	0.85260	2.107000	0.64212	0.528000	0.53228	GAG	.	.	none		0.443	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10369672	T	C	10369672	3	2	12	1	0	0	0	0	1	0	0	0	10037	1551	54	3	5701	3	MYH4	17	10369672	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2791253	10369672	70825538	238	3002										
COX10	1352	hgsc.bcm.edu	37	chr17	14095348	14095348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gccacttgttgtgctgttccGggagttgccattctgacctt	11	11	1	1	rs587780910		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:14095348G>A	ENST00000261643.3	+	6	815	c.738G>A	c.(736-738)ccG>ccA	p.P246P	COX10_ENST00000536205.1_Silent_p.P54P|COX10_ENST00000537334.1_Silent_p.P29P	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	246					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTGCTGTTCCGGGAGTTGCCA	0.502																																					p.P246P		Atlas-SNP	.											COX10,NS,carcinoma,+1,1	COX10	36	1	0			c.G738A						scavenged	.						123	118	120					17																	14095348		2203	4300	6503	SO:0001819	synonymous_variant	1352	exon6			TGTTCCGGGAGTT	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.738G>A	17.37:g.14095348G>A		Somatic	108	2	0.0185185		WXS	Illumina HiSeq	Phase_I	133	8	0.0601504	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	CCDS11166.1																																																																																			T|0.054;A|0.946	0.946	alt		0.502	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14095348	G	A	14095348	2	1	12	1	0	0	0	0	0	0	0	1	3762	1103	39	1		1	COX10	17	14095348	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	3725676	14095348	67099862	239	3003										
SMCR8	140775	hgsc.bcm.edu	37	chr17	18220270	18220270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtggagaaacaagaaagcatAccctctaagcccagtcaaga	9	10	2	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:18220270A>G	ENST00000406438.3	+	1	1647	c.1167A>G	c.(1165-1167)atA>atG	p.I389M	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	389						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAGAAAGCATACCCTCTAAGC	0.423																																					p.I389M		Atlas-SNP	.											.	SMCR8	62	.	0			c.A1167G						PASS	.						117	113	114					17																	18220270		2203	4300	6503	SO:0001583	missense	140775	exon1			AAGCATACCCTCT	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1167A>G	17.37:g.18220270A>G	ENSP00000385025:p.Ile389Met	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	137	6	0.0437956	NM_144775	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	1.223	-0.626275	0.03610	.	.	ENSG00000176994	ENST00000406438	T	0.22134	1.97	5.9	-10.4	0.00318	.	1.175130	0.06061	N	0.658377	T	0.05640	0.0148	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36456	-0.9747	10	0.30854	T	0.27	-20.6322	6.4044	0.21656	0.1744:0.1901:0.4992:0.1362	.	389	Q8TEV9	SMCR8_HUMAN	M	389	ENSP00000385025:I389M	ENSP00000385025:I389M	I	+	3	3	SMCR8	18160995	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-0.920000	0.04013	-1.650000	0.01506	-0.263000	0.10527	ATA	.	.	none		0.423	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		G	18220270	A	G	18220270	3	3	12	1	0	0	0	0	1	0	0	0	14792	381	14	2	1169	2	SMCR8	17	18220270	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	4124922	18220270	62974940	240	3004										
SUPT6H	6830	hgsc.bcm.edu	37	chr17	27010108	27010108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccccaccaagaaaggtagaAaggtgagctgggtgaagggc	15	9	0	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:27010108A>G	ENST00000314616.6	+	15	2159	c.1876A>G	c.(1876-1878)Aag>Gag	p.K626E	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K626E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	626	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAAAGGTAGAAAGGTGAGCTG	0.512																																					p.K626E		Atlas-SNP	.											.	SUPT6H	165	.	0			c.A1876G						PASS	.						28	26	26					17																	27010108		2203	4300	6503	SO:0001583	missense	6830	exon15			GGTAGAAAGGTGA	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1876A>G	17.37:g.27010108A>G	ENSP00000319104:p.Lys626Glu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	70	31	0.442857	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.167849	0.38315	.	.	ENSG00000109111	ENST00000314616	T	0.39997	1.05	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	L	0.55481	1.735	0.58432	D	0.999999	B	0.33103	0.397	B	0.28011	0.085	T	0.18053	-1.0349	10	0.33940	T	0.23	-27.6642	12.212	0.54386	0.9322:0.0:0.0678:0.0	.	626	Q7KZ85	SPT6H_HUMAN	E	626	ENSP00000319104:K626E	ENSP00000319104:K626E	K	+	1	0	SUPT6H	24034235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.068000	0.76748	2.279000	0.76181	0.533000	0.62120	AAG	.	.	none		0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		G	27010108	A	G	27010108	3	3	12	1	0	0	0	0	1	0	0	0	15397	15	1	2	1930	2	SUPT6H	17	27010108	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	8789838	27010108	54185102	241	3005										
C17orf78	284099	hgsc.bcm.edu	37	chr17	35736170	35736170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acagcaaagtaaaagtcaacCttgtatatttggagagaagg	10	5	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:35736170C>T	ENST00000300618.4	+	3	291	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	C17orf78_ENST00000586700.1_Missense_Mutation_p.L81F|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	81						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAAGTCAACCTTGTATATTT	0.453																																					p.L81F		Atlas-SNP	.											C17orf78,colon,carcinoma,0,1	C17orf78	23	1	0			c.C241T						scavenged	.						153	150	151					17																	35736170		1888	4115	6003	SO:0001583	missense	284099	exon3			GTCAACCTTGTAT	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.241C>T	17.37:g.35736170C>T	ENSP00000300618:p.Leu81Phe	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_173625	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090229	0.20390	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.68624	-0.34	4.36	1.29	0.21616	.	0.423314	0.16691	N	0.203553	T	0.50939	0.1645	L	0.36672	1.1	0.09310	N	1	B;B	0.18013	0.007;0.025	B;B	0.19666	0.026;0.026	T	0.46857	-0.9161	10	0.87932	D	0	-3.8027	4.2376	0.10634	0.0:0.599:0.1918:0.2092	.	81;81	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	F	81	ENSP00000300618:L81F	ENSP00000300618:L81F	L	+	1	0	C17orf78	32810283	0.012000	0.17670	0.003000	0.11579	0.531000	0.34715	0.416000	0.21198	0.136000	0.18733	-0.122000	0.15005	CTT	.	.	none		0.453	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		T	35736170	C	T	35736170	3	4	12	1	0	0	0	0	1	0	0	0	1883	681	24	2	251	2	C17orf78	17	35736170	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	8726062	35736170	45459040	242	3006										
KRT19	3880	hgsc.bcm.edu	37	chr17	39684410	39684410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgaatgctgggcgcgcgaaaGgcgacccccggcccaaaacg	14	14	0	1	rs200623371|rs11550883	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:39684410G>A	ENST00000361566.3	-	1	150	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	30	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCGCGCGAAAGGCGACCCCCG	0.721													G|||	3426	0.684105	0.4183	0.7709	5008	,	,		11852	0.9177		0.6402	False		,,,				2504	0.7863				p.A30A		Atlas-SNP	.											KRT19,NS,carcinoma,0,1	KRT19	41	1	0			c.C90T						scavenged	.	G		2008,2162		537,934,614	6	10	9		90	1	0	17	dbSNP_120	9	5219,2943		1750,1719,612	no	coding-synonymous	KRT19	NM_002276.4		2287,2653,1226	AA,AG,GG		36.0573,48.1535,41.3964		30/401	39684410	7227,5105	2085	4081	6166	SO:0001819	synonymous_variant	3880	exon1			GCGAAAGGCGACC		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.90C>T	17.37:g.39684410G>A		Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	2	2	1	NM_002276	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	CCDS11399.1																																																																																			G|0.323;A|0.677	0.677	strong		0.721	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		A	39684410	G	A	39684410	2	1	12	1	0	0	0	0	0	0	0	1	8456	987	35	2		2	KRT19	17	39684410	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	3948240	39684410	41510800	243	3007										
CDC27	996	hgsc.bcm.edu	37	chr17	45232075	45232075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cggtggatggcacatcaattAcaggaggtgtattagtgtag	14	5	1	0	rs199711781		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:45232075A>T	ENST00000066544.3	-	8	1013	c.920T>A	c.(919-921)gTa>gAa	p.V307E	CDC27_ENST00000531206.1_Missense_Mutation_p.V307E|CDC27_ENST00000527547.1_Missense_Mutation_p.V307E|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Missense_Mutation_p.V246E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V307E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACATCAATTACAGGAGGTGT	0.378																																					p.V307E		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27	337	2	2	Substitution - Missense(2)	kidney(2)	c.T920A						scavenged	.						50	50	50					17																	45232075		2203	4300	6503	SO:0001583	missense	996	exon8			TCAATTACAGGAG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.920T>A	17.37:g.45232075A>T	ENSP00000066544:p.Val307Glu	Somatic	51	1	0.0196078		WXS	Illumina HiSeq	Phase_I	51	3	0.0588235	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973416	0.53614	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69040	-0.36;-0.35;-0.04;-0.37;0.63	5.92	5.92	0.95590	.	0.302185	0.32401	N	0.006159	T	0.43299	0.1241	N	0.08118	0	0.58432	D	0.99999	P;B;B;B	0.36465	0.554;0.255;0.341;0.089	B;B;B;B	0.27608	0.081;0.075;0.076;0.034	T	0.47861	-0.9084	10	0.30078	T	0.28	-36.9477	14.323	0.66499	1.0:0.0:0.0:0.0	.	246;307;307;307	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	307;307;246;307;307	ENSP00000066544:V307E;ENSP00000434614:V307E;ENSP00000392802:V246E;ENSP00000437339:V307E;ENSP00000432105:V307E	ENSP00000066544:V307E	V	-	2	0	CDC27	42587074	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.746000	0.74866	2.267000	0.75376	0.477000	0.44152	GTA	A|0.999;T|0.001	0.001	weak		0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45232075	A	T	45232075	3	4	12	1	0	0	0	0	1	0	0	0	3066	391	14	5	1620	5	CDC27	17	45232075	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	5547665	45232075	35963135	244	3008										
SEPT4	5414	hgsc.bcm.edu	37	chr17	56599152	56599152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgtgtctgccttagccaggAtaggcacgatgttgacccgc	13	11	1	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:56599152A>G	ENST00000317268.3	-	7	1036	c.860T>C	c.(859-861)aTc>aCc	p.I287T	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Missense_Mutation_p.I188T|SEPT4_ENST00000412945.3_Missense_Mutation_p.I279T|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000583114.1_Missense_Mutation_p.I140T|SEPT4_ENST00000580844.1_Missense_Mutation_p.I188T|SEPT4_ENST00000393086.1_Missense_Mutation_p.I268T|SEPT4_ENST00000457347.2_Missense_Mutation_p.I302T|SEPT4_ENST00000317256.6_Missense_Mutation_p.I268T|SEPT4_ENST00000426861.1_3'UTR	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	287	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTAGCCAGGATAGGCACGAT	0.567																																					p.I302T		Atlas-SNP	.											SEPT4,NS,carcinoma,-1,1	SEPT4	48	1	0			c.T905C						scavenged	.						109	90	96					17																	56599152		2203	4300	6503	SO:0001583	missense	5414	exon8			GCCAGGATAGGCA	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.860T>C	17.37:g.56599152A>G	ENSP00000321674:p.Ile287Thr	Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	375	4	0.0106667	NM_001256782	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712395	0.30322	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.9	5.9	0.94986	.	0.121540	0.56097	D	0.000029	T	0.53417	0.1795	M	0.85099	2.735	0.80722	D	1	P;P;P;B;P	0.47545	0.837;0.897;0.837;0.115;0.866	P;P;P;B;P	0.48873	0.457;0.521;0.457;0.138;0.593	T	0.62291	-0.6885	10	0.87932	D	0	.	14.2838	0.66232	1.0:0.0:0.0:0.0	.	279;302;268;140;287	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	T	279;301;268;287;268	ENSP00000414779:I279T;ENSP00000321071:I268T;ENSP00000321674:I287T;ENSP00000376801:I268T	ENSP00000321071:I268T	I	-	2	0	SEPT4	53954151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.248000	0.74166	0.460000	0.39030	ATC	.	.	none		0.567	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		G	56599152	A	G	56599152	3	3	12	1	0	0	0	0	1	0	0	0	14066	333	12	2	600	2	SEPT4	17	56599152	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	11367077	56599152	24596058	245	3009										
C17orf82	388407	hgsc.bcm.edu	37	chr17	59489893	59489893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctcgggcctcggcaactccTcacaggtccacgagatggcg	12	16	1	1	rs200497494|rs9907379	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:59489893T>C	ENST00000335108.2	+	1	782	c.557T>C	c.(556-558)cTc>cCc	p.L186P	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	186			L -> P (in dbSNP:rs9907379). {ECO:0000269|PubMed:15489334}.							cervix(1)|lung(1)	2						CGGCAACTCCTCACAGGTCCA	0.731													C|||	3623	0.723442	0.7769	0.6571	5008	,	,		12512	0.7004		0.8002	False		,,,				2504	0.6431				p.L186P		Atlas-SNP	.											C17orf82_ENST00000335108,NS,carcinoma,0,2	C17orf82	16	2	0			c.T557C						PASS	.	C	PRO/LEU	3143,775		1281,581,97	4	6	5		557	0.9	0.1	17	dbSNP_119	5	6355,1647		2560,1235,206	no	missense	C17orf82	NM_203425.1	98	3841,1816,303	CC,CT,TT		20.5824,19.7805,20.3188	benign	186/252	59489893	9498,2422	1959	4001	5960	SO:0001583	missense	388407	exon1			AACTCCTCACAGG	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.557T>C	17.37:g.59489893T>C	ENSP00000335229:p.Leu186Pro	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_203425		Missense_Mutation	SNP	ENST00000335108.2	37	CCDS11628.1	1628	0.7454212454212454	382	0.7764227642276422	236	0.6519337016574586	399	0.6975524475524476	611	0.8060686015831134	C	8.991	0.977736	0.18812	0.802195	0.794176	ENSG00000187013	ENST00000335108	T	0.58210	0.35	4.29	0.931	0.19460	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.40031	P	0.024463000000000013	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	8	0.39692	T	0.17	.	1.8756	0.03217	0.1483:0.381:0.2903:0.1804	rs9907379;rs17846388;rs17859430;rs57634035;rs9907379	186	Q86X59	CQ082_HUMAN	P	186	ENSP00000335229:L186P	ENSP00000335229:L186P	L	+	2	0	C17orf82	56844675	0.009000	0.17119	0.119000	0.21687	0.106000	0.19336	0.032000	0.13732	-0.103000	0.12175	-0.380000	0.06706	CTC	T|0.261;C|0.739	0.739	strong		0.731	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		C	59489893	T	C	59489893	3	2	12	1	0	0	0	0	1	0	0	0	1887	1551	54	3	559	3	C17orf82	17	59489893	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2890741	59489893	21705317	246	3010										
KIF19	124602	hgsc.bcm.edu	37	chr17	72350412	72350412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctggcacccgcgacagagcGcagcagcctgtccctgcact	12	17	0	1	rs2271535	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:72350412G>A	ENST00000389916.4	+	18	2558	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	807			R -> H (in dbSNP:rs2271535).		ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACAGAGCGCAGCAGCCTG	0.711													G|||	1718	0.343051	0.0756	0.4207	5008	,	,		13893	0.4008		0.4712	False		,,,				2504	0.4581				p.R807H		Atlas-SNP	.											KIF19,NS,carcinoma,0,1	KIF19	102	1	0			c.G2420A						scavenged	.	G	HIS/ARG	571,3475		68,435,1520	16	22	20		2420	1.8	1	17	dbSNP_100	20	3907,4455		949,2009,1223	yes	missense	KIF19	NM_153209.3	29	1017,2444,2743	AA,AG,GG		46.7233,14.1127,36.0896	possibly-damaging	807/999	72350412	4478,7930	2023	4181	6204	SO:0001583	missense	124602	exon18			CAGAGCGCAGCAG	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2420G>A	17.37:g.72350412G>A	ENSP00000374566:p.Arg807His	Somatic	4	1	0.25		WXS	Illumina HiSeq	Phase_I	14	5	0.357143	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	790	0.3617216117216117	40	0.08130081300813008	149	0.4116022099447514	242	0.4230769230769231	359	0.4736147757255937	G	12.77	2.036734	0.35893	0.141127	0.467233	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	5.06	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.41050	P	0.014703000000000022	B	0.13594	0.008	B	0.06405	0.002	T	0.38351	-0.9665	8	0.37606	T	0.19	.	6.784	0.23664	0.2165:0.2365:0.547:0.0	rs2271535;rs58995647	807	Q2TAC6	KIF19_HUMAN	H	807	ENSP00000374566:R807H	ENSP00000374566:R807H	R	+	2	0	KIF19	69862007	1.000000	0.71417	0.967000	0.41034	0.417000	0.31264	1.286000	0.33273	1.141000	0.42275	0.556000	0.70494	CGC	G|0.631;A|0.369	0.369	strong		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350412	G	A	72350412	3	1	12	1	0	0	0	0	1	0	0	0	8282	1087	38	1	2490	1	KIF19	17	72350412	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	12860519	72350412	8844798	247	3011										
CD300C	10871	hgsc.bcm.edu	37	chr17	72540836	72540836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccacaccagtaggtgcctgcGtcctcctctgtgagattctc	9	15	2	1	rs530341053	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:72540836G>A	ENST00000330793.1	-	2	672	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	104	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.D104E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCTGCGTCCTCCTCTG	0.582													A|||	2	0.000399361	0.0	0.0	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.002				p.D104D	Esophageal Squamous(66;421 1121 20537 25337 27468)	Atlas-SNP	.											CD300C,NS,carcinoma,0,1	CD300C	41	1	1	Substitution - Missense(1)	lung(1)	c.C312T						scavenged	.						190	151	164					17																	72540836		2203	4300	6503	SO:0001819	synonymous_variant	10871	exon2			GCCTGCGTCCTCC	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.312C>T	17.37:g.72540836G>A		Somatic	264	2	0.00757576		WXS	Illumina HiSeq	Phase_I	322	6	0.0186335	NM_006678		Silent	SNP	ENST00000330793.1	37	CCDS11701.1																																																																																			.	.	none		0.582	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		A	72540836	G	A	72540836	2	1	12	1	0	0	0	0	0	0	0	1	2997	1136	40	1		1	CD300C	17	72540836	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	190424	72540836	8654374	248	3012										
SUMO2	6613	hgsc.bcm.edu	37	chr17	73177275	73177275	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgatcgttgttctcagtcttGactccttcctgttaaaagaa	7	9	2	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:73177275G>A	ENST00000420826.2	-	2	178	c.30C>T	c.(28-30)gtC>gtT	p.V10V	SUMO2_ENST00000314523.7_Silent_p.V10V|SUMO2_ENST00000578238.1_5'UTR	NM_006937.3	NP_008868.3			small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TCTCAGTCTTGACTCCTTCCT	0.378																																					p.V10V		Atlas-SNP	.											.	SUMO2	4	.	0			c.C30T						PASS	.						32	35	34					17																	73177275		2195	4297	6492	SO:0001819	synonymous_variant	6613	exon2			AGTCTTGACTCCT		CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"SMT3 (suppressor of mif two 3, yeast) homolog 2", "SMT3 suppressor of mif two 3 homolog 2 (yeast)", "SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000420826.2:c.30C>T	17.37:g.73177275G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	115	60	0.521739	NM_006937		Silent	SNP	ENST00000420826.2	37	CCDS45774.1																																																																																			.	.	none		0.378	SUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446614.1	NM_006937		A	73177275	G	A	73177275	2	1	12	1	0	0	0	0	0	0	0	1	15385	1277	45	2		2	SUMO2	17	73177275	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	636439	73177275	8017935	249	3013										
ENPP7	339221	hgsc.bcm.edu	37	chr17	77709108	77709108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtgcggcaggtggaccggacCgtgggctacctccgggagag	19	11	0	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:77709108C>T	ENST00000328313.5	+	3	887	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGACCGGACCGTGGGCTACC	0.657																																					p.T222T		Atlas-SNP	.											.	ENPP7	63	.	0			c.C666T						PASS	.						53	51	51					17																	77709108		2203	4300	6503	SO:0001819	synonymous_variant	339221	exon3			CCGGACCGTGGGC	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.666C>T	17.37:g.77709108C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	41	17	0.414634	NM_178543		Silent	SNP	ENST00000328313.5	37	CCDS11763.1																																																																																			.	.	none		0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		T	77709108	C	T	77709108	2	4	12	1	0	0	0	0	0	0	0	1	5135	639	23	1		1	ENPP7	17	77709108	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	4531833	77709108	3486102	250	3014										
RNF213	57674	hgsc.bcm.edu	37	chr17	78332155	78332155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cgagcatgatatcattcatcGacagagacggcaacctagag	10	10	2	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:78332155G>A	ENST00000582970.1	+	37	11073	c.10930G>A	c.(10930-10932)Gac>Aac	p.D3644N	RNF213_ENST00000336301.6_Missense_Mutation_p.D1717N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D3693N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3644					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCATTCATCGACAGAGACGG	0.542																																					p.D3644N		Atlas-SNP	.											.	RNF213	766	.	0			c.G10930A						PASS	.						104	86	92					17																	78332155		2203	4300	6503	SO:0001583	missense	57674	exon37			TTCATCGACAGAG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10930G>A	17.37:g.78332155G>A	ENSP00000464087:p.Asp3644Asn	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	123	6	0.0487805	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990624	0.74589	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.53206	0.63	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	M	0.84511	2.7	0.39810	D	0.972696	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78191	-0.2300	10	0.72032	D	0.01	.	17.3431	0.87303	0.0:0.0:1.0:0.0	.	3693;1717	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3644;3693;1717	ENSP00000338218:D1717N	ENSP00000338218:D1717N	D	+	1	0	RNF213	75946750	1.000000	0.71417	0.312000	0.25196	0.177000	0.22998	7.921000	0.87530	2.612000	0.88384	0.637000	0.83480	GAC	.	.	none		0.542	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78332155	G	A	78332155	3	1	12	1	0	0	0	0	1	0	0	0	13477	1058	37	1	11391	1	RNF213	17	78332155	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	623047	78332155	2863055	251	3015										
NPLOC4	55666	hgsc.bcm.edu	37	chr17	79532602	79532602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cgagctcctcatttctggtcCgcacggcctccagcagcaag	10	16	2	0	rs371370139		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:79532602C>T	ENST00000331134.6	-	16	1813	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q	NPLOC4_ENST00000572760.1_5'UTR|NPLOC4_ENST00000573876.1_5'UTR|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R372Q|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R533Q	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	533					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATTTCTGGTCCGCACGGCCTC	0.597																																					p.R533Q		Atlas-SNP	.											.	NPLOC4	27	.	0			c.G1598A						PASS	.	C	GLN/ARG	0,4110		0,0,2055	16	20	19		1598	5	0.9	17		19	1,8323		0,1,4161	no	missense	NPLOC4	NM_017921.2	43	0,1,6216	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	533/609	79532602	1,12433	2055	4162	6217	SO:0001583	missense	55666	exon16			CTGGTCCGCACGG	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1598G>A	17.37:g.79532602C>T	ENSP00000331487:p.Arg533Gln	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	32	4	0.125	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350695	0.41599	0.0	1.2E-4	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.02	5.02	0.67125	Nuclear pore localisation protein NPL4 (1);	0.095949	0.64402	D	0.000002	T	0.62258	0.2413	M	0.70787	2.145	0.53005	D	0.999964	P;D;P	0.52996	0.636;0.957;0.894	B;B;P	0.44897	0.354;0.424;0.463	T	0.64909	-0.6296	9	0.36615	T	0.2	-33.3332	18.5911	0.91212	0.0:1.0:0.0:0.0	.	372;533;533	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Q	533;532;372	.	ENSP00000331487:R533Q	R	-	2	0	NPLOC4	77143044	1.000000	0.71417	0.944000	0.38274	0.130000	0.20726	3.250000	0.51445	2.628000	0.89032	0.650000	0.86243	CGG	.	.	weak		0.597	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			T	79532602	C	T	79532602	3	4	12	1	0	0	0	0	1	0	0	0	10586	652	23	1	236	1	NPLOC4	17	79532602	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1200447	79532602	1662608	252	3016										
HGS	9146	hgsc.bcm.edu	37	chr17	79668552	79668552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcacagatggcaccctctggCggtcccccccagcagcagcc	11	19	1	1	rs34897798	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr17:79668552C>T	ENST00000329138.4	+	22	2373	c.2238C>T	c.(2236-2238)ggC>ggT	p.G746G	SLC25A10_ENST00000571730.1_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	746	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.G746G(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACCCTCTGGCGGTCCCCCCC	0.682													C|||	449	0.0896565	0.0318	0.0432	5008	,	,		14780	0.2222		0.0696	False		,,,				2504	0.0849				p.G746G		Atlas-SNP	.											HGS,NS,carcinoma,0,1	HGS	54	1	1	Substitution - coding silent(1)	prostate(1)	c.C2238T						PASS	.	C		124,4184		0,124,2030	15	13	14		2238	-8.2	0	17	dbSNP_126	14	479,8003		11,457,3773	no	coding-synonymous	HGS	NM_004712.4		11,581,5803	TT,TC,CC		5.6473,2.8784,4.7146		746/778	79668552	603,12187	2154	4241	6395	SO:0001819	synonymous_variant	9146	exon22			CTCTGGCGGTCCC	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2238C>T	17.37:g.79668552C>T		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	19	15	0.789474	NM_004712	Q9NR36	Silent	SNP	ENST00000329138.4	37	CCDS11784.1																																																																																			C|0.900;T|0.100	0.100	strong		0.682	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		T	79668552	C	T	79668552	2	4	12	1	0	0	0	0	0	0	0	1	7087	755	27	1		1	HGS	17	79668552	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	135950	79668552	1526658	253	3017										
ANKRD30B	374860	hgsc.bcm.edu	37	chr18	14848786	14848786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gaagggaacttaaaaaagatAactgtgaacaaattacagca	8	5	0	2	rs368096733		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:14848786A>C	ENST00000358984.4	+	34	3076	c.2896A>C	c.(2896-2898)Aac>Cac	p.N966H		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	966								p.N966H(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAAAAAGATAACTGTGAACA	0.328																																					p.N966H		Atlas-SNP	.											ANKRD30B_ENST00000358984,trunk,malignant_melanoma,0,1	ANKRD30B	237	1	1	Substitution - Missense(1)	skin(1)	c.A2896C						scavenged	.						52	37	42					18																	14848786		692	1587	2279	SO:0001583	missense	374860	exon34			AAAGATAACTGTG	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.2896A>C	18.37:g.14848786A>C	ENSP00000351875:p.Asn966His	Somatic	159	6	0.0377358		WXS	Illumina HiSeq	Phase_I	229	10	0.0436681	NM_001145029	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-4.292239	0.00001	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.15603	2.41	1.48	-0.543	0.11851	.	.	.	.	.	T	0.03915	0.0110	N	0.01250	-0.93	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39702	-0.9601	9	0.02654	T	1	.	5.2623	0.15580	0.3861:0.4355:0.1784:0.0	.	1051;966	Q9BXX2;F8WAG3	AN30B_HUMAN;.	H	966;360;386	ENSP00000351875:N966H	ENSP00000277669:N386H	N	+	1	0	ANKRD30B	14838786	0.002000	0.14202	0.004000	0.12327	0.010000	0.07245	0.367000	0.20382	-0.650000	0.05423	-3.655000	0.00026	AAC	A|0.500;C|0.500	0.500	weak		0.328	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		C	14848786	A	C	14848786	3	2	12	1	0	0	0	0	1	0	0	0	659	362	13	5	3030	5	ANKRD30B	18	14848786	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10		14848786	63228462	254	3018										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31323877	31323877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aatttgccaaacctctccacTagctctgtcttgattccccc	4	16	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:31323877T>C	ENST00000269197.5	+	12	4065	c.4065T>C	c.(4063-4065)acT>acC	p.T1355T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1355	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTCTCCACTAGCTCTGTCT	0.458											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T1355T		Atlas-SNP	.											ASXL3_ENST00000269197,NS,carcinoma,0,1	ASXL3	405	1	0			c.T4065C						scavenged	.						144	146	146					18																	31323877		1957	4144	6101	SO:0001819	synonymous_variant	80816	exon12			CTCCACTAGCTCT	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4065T>C	18.37:g.31323877T>C		Somatic	168	0	0	823	WXS	Illumina HiSeq	Phase_I	270	3	0.0111111	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																			.	.	none		0.458	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31323877	T	C	31323877	2	2	12	1	0	0	0	0	0	0	0	1	1068	1509	53	3		3	ASXL3	18	31323877	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	16475091	31323877	46753371	255	3019										
CCDC11	220136	hgsc.bcm.edu	37	chr18	47777943	47777943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	attcagccccaggcgtgtgtTctccatcagctctttctgtc	8	14	5	0	rs574145243		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:47777943T>C	ENST00000398545.4	-	4	802	c.685A>G	c.(685-687)Aac>Gac	p.N229D		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AGGCGTGTGTTCTCCATCAGC	0.567													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20116	0.0		0.0	False		,,,				2504	0.0				p.N229D		Atlas-SNP	.											CCDC11,NS,carcinoma,+1,1	CCDC11	59	1	0			c.A685G						scavenged	.						138	139	139					18																	47777943		2055	4199	6254	SO:0001583	missense	220136	exon4			GTGTGTTCTCCAT																												ENST00000398545.4:c.685A>G	18.37:g.47777943T>C	ENSP00000381553:p.Asn229Asp	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	267	4	0.0149813	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	T	6.870	0.529967	0.13127	.	.	ENSG00000172361	ENST00000398545	T	0.09163	3.01	5.32	-0.284	0.12870	.	0.557950	0.19355	N	0.116295	T	0.07683	0.0193	L	0.54323	1.7	0.19300	N	0.999979	B	0.09022	0.002	B	0.08055	0.003	T	0.30446	-0.9978	10	0.23891	T	0.37	-3.5367	1.519	0.02512	0.1408:0.1678:0.1455:0.5459	.	229	Q96M91	CCD11_HUMAN	D	229	ENSP00000381553:N229D	ENSP00000381553:N229D	N	-	1	0	CCDC11	46031941	0.023000	0.18921	0.961000	0.40146	0.641000	0.38312	0.291000	0.18994	0.305000	0.22832	-0.327000	0.08410	AAC	.	.	none		0.567	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			C	47777943	T	C	47777943	3	2	12	1	0	0	0	0	1	0	0	0	2746	1783	62	2	879	2	CCDC11	18	47777943	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	16454066	47777943	30299305	256	3020										
MBD1	4152	hgsc.bcm.edu	37	chr18	47802076	47802076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctcttgggtctgacagcccCggcatactccacaccctcgg	9	18	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:47802076C>T	ENST00000591416.1	-	8	1117	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	MBD1_ENST00000585595.1_Missense_Mutation_p.R229Q|MBD1_ENST00000587605.1_Missense_Mutation_p.R229Q|MBD1_ENST00000382948.5_Missense_Mutation_p.R229Q|MBD1_ENST00000349085.2_Missense_Mutation_p.R229Q|MBD1_ENST00000398493.1_Missense_Mutation_p.R229Q|MBD1_ENST00000590208.1_Missense_Mutation_p.R229Q|MBD1_ENST00000436910.1_Missense_Mutation_p.R229Q|MBD1_ENST00000353909.3_Missense_Mutation_p.R180Q|MBD1_ENST00000269471.5_Missense_Mutation_p.R229Q|MBD1_ENST00000398488.1_Missense_Mutation_p.R229Q|MBD1_ENST00000398495.2_Missense_Mutation_p.R229Q|MBD1_ENST00000424334.2_Missense_Mutation_p.R255Q|MBD1_ENST00000347968.3_Missense_Mutation_p.R229Q|MBD1_ENST00000585672.1_Missense_Mutation_p.R180Q|MBD1_ENST00000339998.6_Missense_Mutation_p.R229Q|MBD1_ENST00000591535.1_Missense_Mutation_p.R229Q|MBD1_ENST00000269468.5_Missense_Mutation_p.R229Q|MBD1_ENST00000457839.2_Missense_Mutation_p.R229Q|MBD1_ENST00000588937.1_Missense_Mutation_p.R229Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	229					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R229L(8)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGACAGCCCCGGCATACTCC	0.672																																					p.R229Q		Atlas-SNP	.											MBD1_ENST00000457839,NS,carcinoma,0,4	MBD1	228	4	8	Substitution - Missense(8)	lung(4)|endometrium(4)	c.G686A						scavenged	.						58	50	52					18																	47802076		2203	4300	6503	SO:0001583	missense	4152	exon8			CAGCCCCGGCATA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.686G>A	18.37:g.47802076C>T	ENSP00000467017:p.Arg229Gln	Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	183	2	0.010929	NM_001204137	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245472	0.59103	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.61;-3.63;-3.6;-3.61;-3.6;-3.61;-3.61;-3.66;-3.6;-3.62;-3.65;-3.6;-3.6	4.91	3.0	0.34707	Zinc finger, CXXC-type (2);	0.420544	0.20408	N	0.092904	D	0.90672	0.7074	N	0.10874	0.06	0.29323	N	0.867248	P;D;P;D;D;D;P;P;D;P;P;D	0.76494	0.889;0.999;0.919;0.982;0.963;0.979;0.777;0.803;0.982;0.932;0.946;0.982	B;D;B;P;B;P;B;B;P;B;P;P	0.79784	0.391;0.993;0.2;0.605;0.401;0.751;0.2;0.147;0.605;0.44;0.525;0.807	T	0.82715	-0.0320	10	0.16896	T	0.51	-15.1991	4.1959	0.10443	0.0:0.6052:0.2044:0.1904	.	229;255;229;229;229;229;180;229;229;229;229;229	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	Q	229;180;229;229;229;229;229;255;229;229;229;229;229	ENSP00000372407:R229Q;ENSP00000269469:R180Q;ENSP00000342531:R229Q;ENSP00000269468:R229Q;ENSP00000285102:R229Q;ENSP00000409561:R229Q;ENSP00000269471:R229Q;ENSP00000408846:R255Q;ENSP00000339546:R229Q;ENSP00000381508:R229Q;ENSP00000405268:R229Q;ENSP00000381506:R229Q;ENSP00000381502:R229Q	ENSP00000269468:R229Q	R	-	2	0	MBD1	46056074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.191000	0.32138	2.418000	0.82041	0.655000	0.94253	CGG	.	.	none		0.672	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47802076	C	T	47802076	3	4	12	1	0	0	0	0	1	0	0	0	9342	652	23	1	1361	1	MBD1	18	47802076	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	24133	47802076	30275172	257	3021										
TCF4	6925	hgsc.bcm.edu	37	chr18	52896251	52896251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gggcattgttggccatcctcCgctccttctcacgctctgcc	9	17	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:52896251C>T	ENST00000356073.4	-	18	2305	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	TCF4_ENST00000566286.1_Missense_Mutation_p.R562Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R671Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R405Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R541Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R565Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R435Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R494Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R435Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R505Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R523Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R540Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R575Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R545Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R545Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R509Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R498Q|TCF4_ENST00000354452.3_Missense_Mutation_p.R569Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R435Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R405Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R409Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R569Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	565	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> W (in PTHS). {ECO:0000269|PubMed:22045651}.		DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCATCCTCCGCTCCTTCTC	0.552																																					p.R671Q		Atlas-SNP	.											TCF4_ENST00000398339,right_upper_lobe,carcinoma,0,2	TCF4	178	2	0			c.G2012A						scavenged	.						193	168	177					18																	52896251		2203	4300	6503	SO:0001583	missense	6925	exon19			ATCCTCCGCTCCT	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1694G>A	18.37:g.52896251C>T	ENSP00000348374:p.Arg565Gln	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	248	3	0.0120968	NM_001243226	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	36	5.939604	0.97128	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77	5.88	5.88	0.94601	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.987;0.987;0.992;0.979;0.996;0.997;0.964;0.987	D	0.99874	1.1101	10	0.87932	D	0	-4.2769	19.0127	0.92881	0.0:1.0:0.0:0.0	.	545;569;405;671;565;523;498;409;562	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	Q	569;409;565;523;541;545;498;435;671	ENSP00000346440:R569Q;ENSP00000409447:R409Q;ENSP00000348374:R565Q;ENSP00000439656:R523Q;ENSP00000445202:R541Q;ENSP00000440731:R545Q;ENSP00000441562:R498Q;ENSP00000439827:R435Q;ENSP00000381382:R671Q	ENSP00000346440:R569Q	R	-	2	0	TCF4	51047249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.815000	0.86186	2.793000	0.96121	0.558000	0.71614	CGG	.	.	none		0.552	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		T	52896251	C	T	52896251	3	4	12	1	0	0	0	0	1	0	0	0	15692	652	23	1	317	1	TCF4	18	52896251	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	5094175	52896251	25180997	258	3022										
WDR7	23335	hgsc.bcm.edu	37	chr18	54353208	54353208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggacacagtggtagcactctCggtgactggcatcctgaagg	14	10	1	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:54353208C>T	ENST00000254442.3	+	6	753	c.542C>T	c.(541-543)tCg>tTg	p.S181L	WDR7_ENST00000357574.3_Missense_Mutation_p.S181L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	181					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTAGCACTCTCGGTGACTGGC	0.413																																					p.S181L		Atlas-SNP	.											WDR7,NS,carcinoma,-1,1	WDR7	166	1	0			c.C542T						scavenged	.						140	144	143					18																	54353208		2203	4300	6503	SO:0001583	missense	23335	exon6			CACTCTCGGTGAC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.542C>T	18.37:g.54353208C>T	ENSP00000254442:p.Ser181Leu	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	97	3	0.0309278	NM_052834	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338188	0.60963	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.07800	3.16;3.16	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.69823	2.125	0.80722	D	1	D;P	0.60575	0.988;0.848	P;B	0.49421	0.61;0.121	T	0.00183	-1.1945	10	0.87932	D	0	.	19.6802	0.95960	0.0:1.0:0.0:0.0	.	181;181	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	181	ENSP00000254442:S181L;ENSP00000350187:S181L	ENSP00000254442:S181L	S	+	2	0	WDR7	52504206	1.000000	0.71417	0.888000	0.34837	0.122000	0.20287	7.558000	0.82253	2.758000	0.94735	0.650000	0.86243	TCG	.	.	none		0.413	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			T	54353208	C	T	54353208	3	4	12	1	0	0	0	0	1	0	0	0	17317	893	31	1	560	1	WDR7	18	54353208	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	1456957	54353208	23724040	259	3023										
SALL3	27164	hgsc.bcm.edu	37	chr18	76753588	76753588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tggggctgcaactgccgcccActgtccctggcgcgcacggc	14	17	0	0	rs7240860	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr18:76753588A>G	ENST00000537592.2	+	2	1597	c.1597A>G	c.(1597-1599)Act>Gct	p.T533A	SALL3_ENST00000575389.2_Missense_Mutation_p.T533A|SALL3_ENST00000536229.3_Missense_Mutation_p.T400A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	533			T -> A (in dbSNP:rs7240860).		forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACTGCCGCCCACTGTCCCTGG	0.741													A|||	3600	0.71885	0.3374	0.8242	5008	,	,		11859	0.9127		0.8459	False		,,,				2504	0.8292				p.T533A		Atlas-SNP	.											SALL3,NS,carcinoma,0,1	SALL3	162	1	0			c.A1597G						scavenged	.	A	ALA/THR	1821,2527		397,1027,750	12	11	11		1597	2.7	0.2	18	dbSNP_116	11	7027,1441		2953,1121,160	no	missense	SALL3	NM_171999.2	58	3350,2148,910	GG,GA,AA		17.017,41.8813,30.9613	possibly-damaging	533/1301	76753588	8848,3968	2174	4234	6408	SO:0001583	missense	27164	exon2			CCGCCCACTGTCC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1597A>G	18.37:g.76753588A>G	ENSP00000441823:p.Thr533Ala	Somatic	3	1	0.333333		WXS	Illumina HiSeq	Phase_I	7	3	0.428571	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	1629	0.7458791208791209	158	0.32113821138211385	307	0.8480662983425414	532	0.9300699300699301	632	0.8337730870712401	A	3.488	-0.104379	0.06967	0.418813	0.82983	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10288	2.89	5.2	2.73	0.32206	.	0.000000	0.64402	D	0.000017	T	0.00012	0.0000	M	0.70842	2.15	0.09310	P	0.999999037973	P;P	0.52577	0.712;0.954	B;B	0.43950	0.396;0.437	T	0.11155	-1.0599	9	0.42905	T	0.14	-37.6074	8.1421	0.31089	0.7253:0.1343:0.0:0.1405	rs7240860	265;533	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	533;533;265	ENSP00000441823:T533A	ENSP00000299466:T533A	T	+	1	0	SALL3	74854576	1.000000	0.71417	0.204000	0.23530	0.006000	0.05464	4.407000	0.59754	0.267000	0.21916	-0.460000	0.05396	ACT	A|0.251;G|0.749	0.749	strong		0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		G	76753588	A	G	76753588	3	3	12	1	0	0	0	0	1	0	0	0	13812	159	6	2	1603	2	SALL3	18	76753588	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	22400380	76753588	1323660	260	3024										
RPS15	6209	hgsc.bcm.edu	37	chr19	1440068	1440068	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccagcggcggcggctgaaccGgggcctgcggcggaagcagc	19	14	0	1	rs201657403		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:1440068G>C	ENST00000586686.2	+	3	179	c.140G>C	c.(139-141)cGg>cCg	p.R47P	RPS15_ENST00000591804.2_Missense_Mutation_p.R14P|RPS15_ENST00000589656.2_Missense_Mutation_p.R47P|AC027307.3_ENST00000594262.1_5'Flank|RPS15_ENST00000593052.1_Missense_Mutation_p.R54P|RPS15_ENST00000585665.1_Missense_Mutation_p.R14P|RPS15_ENST00000591032.1_Missense_Mutation_p.R14P|RPS15_ENST00000586096.2_Missense_Mutation_p.R47P|RPS15_ENST00000233609.4_Missense_Mutation_p.R20P			P62841	RS15_HUMAN	ribosomal protein S15	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R47P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGAACCGGGGCCTGCGG	0.687																																					p.R47P	Ovarian(170;79 2680 5719 44260)	Atlas-SNP	.											RPS15,extremity,malignant_melanoma,0,1	RPS15	11	1	1	Substitution - Missense(1)	skin(1)	c.G140C						scavenged	.						3	5	4					19																	1440068		2019	3993	6012	SO:0001583	missense	6209	exon3			TGAACCGGGGCCT		CCDS12067.1	19p13.3	2012-12-20			ENSG00000115268	ENSG00000115268		"S ribosomal proteins"	10388	protein-coding gene	gene with protein product	"40S ribosomal protein S15", "homolog of rat insulinoma", "insulinoma protein"	180535				2159154	Standard	NM_001018		Approved	RIG, MGC111130, S15	uc002lsp.1	P62841	OTTHUMG00000140099	ENST00000586686.2:c.140G>C	19.37:g.1440068G>C	ENSP00000467676:p.Arg47Pro	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	41	5	0.121951	NM_001018	A5D8V9|P11174|Q3KRA1|Q9UDC2	Missense_Mutation	SNP	ENST00000586686.2	37	CCDS12067.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516509	0.27123	.	.	ENSG00000115268	ENST00000233609	.	.	.	4.26	3.21	0.36854	Ribosomal protein S19, superfamily (2);	0.000000	0.64402	U	0.000002	T	0.79452	0.4448	H	0.96489	3.83	0.80722	D	1	B	0.17465	0.022	B	0.26310	0.068	T	0.78595	-0.2143	9	0.51188	T	0.08	-26.4524	11.4241	0.50001	0.0902:0.0:0.9098:0.0	.	47	P62841	RS15_HUMAN	P	47	.	ENSP00000233609:R47P	R	+	2	0	RPS15	1391068	1.000000	0.71417	0.710000	0.30468	0.007000	0.05969	9.198000	0.94994	0.908000	0.36671	-0.192000	0.12808	CGG	G|0.442;C|0.558	0.558	strong		0.687	RPS15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449609.4	NM_001018		C	1440068	G	C	1440068	3	2	12	1	0	0	0	0	1	0	0	0	13625	1116	39	4	150	4	RPS15	19	1440068	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		1440068	57688915	261	3025										
JSRP1	126306	hgsc.bcm.edu	37	chr19	2254194	2254194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctgcaaacccactcgctccgGctttcagcctctccttcccc	5	21	2	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:2254194G>T	ENST00000300961.6	-	4	318	c.254C>A	c.(253-255)gCc>gAc	p.A85D	JSRP1_ENST00000586471.2_Missense_Mutation_p.A85D	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	85					protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		ACTCGCTCCGGCTTTCAGCCT	0.642											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A85D		Atlas-SNP	.											.	JSRP1	18	.	0			c.C254A						PASS	.						133	131	132					19																	2254194		2203	4300	6503	SO:0001583	missense	126306	exon4			GCTCCGGCTTTCA	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.254C>A	19.37:g.2254194G>T	ENSP00000300961:p.Ala85Asp	Somatic	60	0	0	602	WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_144616		Missense_Mutation	SNP	ENST00000300961.6	37	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150195	0.37923	.	.	ENSG00000167476	ENST00000300961	T	0.22336	1.96	3.24	-0.348	0.12613	.	0.669075	0.12336	N	0.477943	T	0.14657	0.0354	L	0.29908	0.895	0.09310	N	1	P	0.47677	0.899	P	0.45099	0.469	T	0.14783	-1.0460	10	0.87932	D	0	-0.0226	2.9112	0.05738	0.2903:0.245:0.4647:0.0	.	85	Q96MG2	JSPR1_HUMAN	D	85	ENSP00000300961:A85D	ENSP00000300961:A85D	A	-	2	0	JSRP1	2205194	0.000000	0.05858	0.259000	0.24435	0.174000	0.22865	-0.004000	0.12878	0.137000	0.18759	0.555000	0.69702	GCC	.	.	none		0.642	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		T	2254194	G	T	2254194	3	4	12	1	0	0	0	0	1	0	0	0	7966	1203	42	4	757	4	JSRP1	19	2254194	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	814126	2254194	56874789	262	3026										
TUBB4	10382	hgsc.bcm.edu	37	chr19	6495416	6495416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgctgttgccgatgaaggtcGcggccatcttcaggccgcgg	15	12	2	1	rs1053267		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:6495416G>A	ENST00000264071.2	-	4	1465	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A365V|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	365			A -> V (in dbSNP:rs1053267). {ECO:0000269|PubMed:6462917}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GATGAAGGTCGCGGCCATCTT	0.617																																					p.A365V		Atlas-SNP	.											TUBB4,colon,carcinoma,+1,1	.	.	1	0			c.C1094T						scavenged	.						176	154	162					19																	6495416		2203	4300	6503	SO:0001583	missense	10382	exon4			AAGGTCGCGGCCA	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1094C>T	19.37:g.6495416G>A	ENSP00000264071:p.Ala365Val	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	108	57	0.527778	NM_006087	B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519188	0.27211	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83837	-1.77;-1.77	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000003	T	0.71525	0.3350	N	0.16478	0.41	0.48452	D	0.999651	B	0.14012	0.009	B	0.12837	0.008	T	0.70594	-0.4829	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	rs1053267	365	P04350	TBB4A_HUMAN	V	365;365;283	ENSP00000264071:A365V;ENSP00000443590:A365V	ENSP00000264071:A365V	A	-	2	0	TUBB4	6446416	1.000000	0.71417	0.965000	0.40720	0.833000	0.47200	5.606000	0.67641	1.473000	0.48159	0.306000	0.20318	GCG	G|1.000;|0.000	.	weak		0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495416	G	A	6495416	3	1	12	1	0	0	0	0	1	0	0	0	16755	1087	38	1	244	1	TUBB4	19	6495416	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4241222	6495416	52633567	263	3027										
VAV1	7409	hgsc.bcm.edu	37	chr19	6828475	6828475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cgatggagaaggagaacctgCggctggccctggatgccatg	16	10	0	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:6828475C>T	ENST00000602142.1	+	11	1151	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	VAV1_ENST00000596764.1_Missense_Mutation_p.R325W|VAV1_ENST00000539284.1_Missense_Mutation_p.R260W|VAV1_ENST00000599806.1_Missense_Mutation_p.R302W|VAV1_ENST00000304076.2_Missense_Mutation_p.R357W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R357W(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGAACCTGCGGCTGGCCCT	0.627																																					p.R357W		Atlas-SNP	.											VAV1,NS,carcinoma,0,1	VAV1	140	1	1	Substitution - Missense(1)	kidney(1)	c.C1069T						scavenged	.						60	63	62					19																	6828475		2203	4300	6503	SO:0001583	missense	7409	exon11			AACCTGCGGCTGG		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1069C>T	19.37:g.6828475C>T	ENSP00000472929:p.Arg357Trp	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144975	0.57044	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.63913	-0.07;-0.07	5.0	2.81	0.32909	Dbl homology (DH) domain (5);	0.071358	0.53938	D	0.000043	T	0.78259	0.4255	M	0.83953	2.67	0.50171	D	0.999854	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.981;0.992;0.993;0.998	T	0.79274	-0.1871	10	0.87932	D	0	.	11.1257	0.48317	0.4865:0.5135:0.0:0.0	.	260;357;302;357	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	357;260	ENSP00000302269:R357W;ENSP00000443242:R260W	ENSP00000302269:R357W	R	+	1	2	VAV1	6779475	0.873000	0.30073	0.995000	0.50966	0.398000	0.30690	0.216000	0.17585	0.499000	0.27970	-0.518000	0.04402	CGG	.	.	none		0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6828475	C	T	6828475	3	4	12	1	0	0	0	0	1	0	0	0	17128	759	27	1	1111	1	VAV1	19	6828475	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	333059	6828475	52300508	264	3028										
MUC16	94025	hgsc.bcm.edu	37	chr19	9002612	9002612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tctgtccagtccagggctttTggggtcaggacgatgggtgc	16	9	2	0	rs544501645	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:9002612T>G	ENST00000397910.4	-	51	40407	c.40204A>C	c.(40204-40206)Aaa>Caa	p.K13402Q	MUC16_ENST00000380951.5_Missense_Mutation_p.K43Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13404	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGGCTTTTGGGGTCAGGA	0.567													t|||	2	0.000399361	0.0008	0.0	5008	,	,		17513	0.0		0.001	False		,,,				2504	0.0				p.K13402Q		Atlas-SNP	.											MUC16_ENST00000397910,NS,lymphoid_neoplasm,0,2	MUC16	4315	2	0			c.A40204C						scavenged	.						97	88	91					19																	9002612		2010	4179	6189	SO:0001583	missense	94025	exon51			GGCTTTTGGGGTC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40204A>C	19.37:g.9002612T>G	ENSP00000381008:p.Lys13402Gln	Somatic	178	14	0.0786517		WXS	Illumina HiSeq	Phase_I	249	23	0.0923695	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	6.712	0.500044	0.12762	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.29142	1.58;1.58	2.75	-5.49	0.02584	SEA (1);	.	.	.	.	T	0.34542	0.0901	L	0.57536	1.79	.	.	.	B;D	0.56287	0.0;0.975	B;D	0.71656	0.001;0.974	T	0.28332	-1.0047	8	0.12103	T	0.63	5.8029	0.561	0.00679	0.3225:0.3115:0.1633:0.2027	.	21047;13402	Q8WXI7;B5ME49	MUC16_HUMAN;.	Q	13402;43	ENSP00000381008:K13402Q;ENSP00000370338:K43Q	ENSP00000370338:K43Q	K	-	1	0	MUC16	8863612	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.834000	0.00029	-1.603000	0.01597	-0.867000	0.03001	AAA	.	.	none		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9002612	T	G	9002612	3	3	12	1	0	0	0	0	1	0	0	0	9973	1821	63	5	3455	5	MUC16	19	9002612	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	2174137	9002612	50126371	265	3029										
ZNF20	7568	hgsc.bcm.edu	37	chr19	12243529	12243529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tttcatgatatcgaatgtaaTtggaaataaaggccttacca	7	6	1	1	rs557758485		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:12243529T>C	ENST00000334213.5	-	4	1696	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TCGAATGTAATTGGAAATAAA	0.418													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22095	0.0		0.0	False		,,,				2504	0.0				p.N491S		Atlas-SNP	.											.	ZNF20	86	.	0			c.A1472G						PASS	.						172	183	179					19																	12243529		2203	4298	6501	SO:0001583	missense	7568	exon4			ATGTAATTGGAAA	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1472A>G	19.37:g.12243529T>C	ENSP00000335437:p.Asn491Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	78	38	0.487179	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	T	0.165	-1.077307	0.01903	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.05319	3.46	0.94	-1.88	0.07713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00875	0.0029	N	0.00064	-2.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40572	-0.9556	9	0.02654	T	1	.	2.726	0.05214	0.0:0.268:0.2608:0.4712	.	491	P17024	ZNF20_HUMAN	S	491	ENSP00000335437:N491S	ENSP00000292241:N491S	N	-	2	0	ZNF20	12104529	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	-3.261000	0.00536	-0.843000	0.04189	0.260000	0.18958	AAT	.	.	none		0.418	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		C	12243529	T	C	12243529	3	2	12	1	0	0	0	0	1	0	0	0	17758	1493	52	2	130	2	ZNF20	19	12243529	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	3240917	12243529	46885454	266	3030										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12501466	12501466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcatacgggttctctccagtAtgagttttttcatgtccttg	8	9	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:12501466A>G	ENST00000430385.3	-	4	1946	c.1746T>C	c.(1744-1746)caT>caC	p.H582H	ZNF799_ENST00000419318.1_Silent_p.H550H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	582					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTCTCCAGTATGAGTTTTTT	0.393																																					p.H582H		Atlas-SNP	.											ZNF799_ENST00000430385,NS,malignant_melanoma,0,2	ZNF799	111	2	0			c.T1746C						scavenged	.						74	78	76					19																	12501466		2202	4295	6497	SO:0001819	synonymous_variant	90576	exon4			TCCAGTATGAGTT	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1746T>C	19.37:g.12501466A>G		Somatic	174	2	0.0114943		WXS	Illumina HiSeq	Phase_I	232	4	0.0172414	NM_001080821		Silent	SNP	ENST00000430385.3	37	CCDS45989.1																																																																																			.	.	none		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12501466	A	G	12501466	2	3	12	1	0	0	0	0	0	0	0	1	18163	446	16	2		2	ZNF799	19	12501466	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	257937	12501466	46627517	267	3031										
RTBDN	83546	hgsc.bcm.edu	37	chr19	12936596	12936596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aggtgcgagggctgcgggaaCgccgggagggagcttcccgg	21	10	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:12936596C>T	ENST00000458671.2	-	6	766	c.614G>A	c.(613-615)cGt>cAt	p.R205H	RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000322912.5_Missense_Mutation_p.R237H|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.R215H	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	205						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GCTGCGGGAACGCCGGGAGGG	0.711											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R237H		Atlas-SNP	.											.	RTBDN	26	.	0			c.G710A						PASS	.						17	17	17					19																	12936596		2199	4289	6488	SO:0001583	missense	83546	exon7			CGGGAACGCCGGG	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.614G>A	19.37:g.12936596C>T	ENSP00000416375:p.Arg205His	Somatic	123	0	0	683	WXS	Illumina HiSeq	Phase_I	131	53	0.40458	NM_031429	F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399729	0.42512	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.58358	0.34;0.44	3.32	1.17	0.20885	.	0.665039	0.12535	N	0.460449	T	0.54515	0.1863	L	0.32530	0.975	0.09310	N	0.999993	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.939	T	0.37709	-0.9694	10	0.87932	D	0	-27.7491	4.204	0.10480	0.0:0.621:0.2441:0.1349	.	237;205	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	H	237;205	ENSP00000326253:R237H;ENSP00000416375:R205H	ENSP00000326253:R237H	R	-	2	0	RTBDN	12797596	0.000000	0.05858	0.012000	0.15200	0.141000	0.21300	-0.190000	0.09615	0.760000	0.33108	-0.195000	0.12781	CGT	.	.	none		0.711	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		T	12936596	C	T	12936596	3	4	12	1	0	0	0	0	1	0	0	0	13717	536	19	1	79	1	RTBDN	19	12936596	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	435130	12936596	46192387	268	3032										
OR10H5	284433	hgsc.bcm.edu	37	chr19	15905664	15905664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcccaaaggtccccagtctcCggaaggagacaccttgatgg	12	13	1	2	rs144567857	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:15905664C>T	ENST00000308940.8	+	1	904	c.806C>T	c.(805-807)cCg>cTg	p.P269L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	269						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)|liver(1)|lung(9)|ovary(1)	20						CCCCAGTCTCCGGAAGGAGAC	0.567													.|||	5	0.000998403	0.003	0.0014	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0				p.P269L		Atlas-SNP	.											OR10H5,NS,carcinoma,-1,1	OR10H5	49	1	0			c.C806T						scavenged	.						111	90	98					19																	15905664		2203	4300	6503	SO:0001583	missense	284433	exon1			AGTCTCCGGAAGG	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.806C>T	19.37:g.15905664C>T	ENSP00000310704:p.Pro269Leu	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	173	63	0.364162	NM_001004466	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	0	0.0	4	0.005277044854881266	.	0	-2.679788	0.00102	.	.	ENSG00000172519	ENST00000308940	T	0.00207	8.55	3.88	-4.19	0.03835	GPCR, rhodopsin-like superfamily (1);	0.571038	0.14488	N	0.316535	T	0.00039	0.0001	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14200	-1.0481	10	0.26408	T	0.33	.	2.5734	0.04800	0.2427:0.418:0.1238:0.2154	.	269	Q8NGA6	O10H5_HUMAN	L	269	ENSP00000310704:P269L	ENSP00000310704:P269L	P	+	2	0	OR10H5	15766664	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.821000	0.00749	-1.726000	0.01370	-4.535000	0.00005	CCG	C|0.998;T|0.002	0.002	strong		0.567	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15905664	C	T	15905664	3	4	12	1	0	0	0	0	1	0	0	0	10909	652	23	1	808	1	OR10H5	19	15905664	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2969068	15905664	43223319	269	3033										
SLC5A5	6528	hgsc.bcm.edu	37	chr19	17992828	17992828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgtagaagacctcatcaaacCtcggctgcggagcctggcac	11	13	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:17992828C>T	ENST00000222248.3	+	9	1465	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	373					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCATCAAACCTCGGCTGCGG	0.597																																					p.P373L	Melanoma(65;1008 1708 7910 46650)	Atlas-SNP	.											SLC5A5,rectum,carcinoma,-1,1	SLC5A5	67	1	0			c.C1118T						scavenged	.						91	86	88					19																	17992828		2203	4300	6503	SO:0001583	missense	6528	exon9			TCAAACCTCGGCT		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1118C>T	19.37:g.17992828C>T	ENSP00000222248:p.Pro373Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	166	2	0.0120482	NM_000453	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013763	0.54468	.	.	ENSG00000105641	ENST00000222248	D	0.87256	-2.23	4.36	4.36	0.52297	.	0.057597	0.64402	D	0.000001	D	0.94591	0.8257	H	0.94385	3.53	0.80722	D	1	D	0.59357	0.985	D	0.64144	0.922	D	0.95812	0.8842	10	0.72032	D	0.01	.	14.4234	0.67200	0.0:1.0:0.0:0.0	.	373	Q92911	SC5A5_HUMAN	L	373	ENSP00000222248:P373L	ENSP00000222248:P373L	P	+	2	0	SLC5A5	17853828	1.000000	0.71417	0.911000	0.35937	0.034000	0.12701	5.530000	0.67141	2.277000	0.76020	0.561000	0.74099	CCT	.	.	none		0.597	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	17992828	C	T	17992828	3	4	12	1	0	0	0	0	1	0	0	0	14668	681	24	2	1152	2	SLC5A5	19	17992828	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2087164	17992828	41136155	270	3034										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33493842	33493842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	attttgacgagcacgctgagCatggcagggctcatgtcgta	13	9	1	2	rs137892450	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:33493842C>A	ENST00000254260.3	-	8	860	c.825G>T	c.(823-825)atG>atT	p.M275I	RHPN2_ENST00000400226.4_Missense_Mutation_p.M124I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	275	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCACGCTGAGCATGGCAGGGC	0.448																																					p.M275I		Atlas-SNP	.											RHPN2,NS,neuroblastoma,0,1	RHPN2	107	1	0			c.G825T						scavenged	.						54	49	50					19																	33493842		2203	4300	6503	SO:0001583	missense	85415	exon8			GCTGAGCATGGCA	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.825G>T	19.37:g.33493842C>A	ENSP00000254260:p.Met275Ile	Somatic	100	4	0.04		WXS	Illumina HiSeq	Phase_I	111	4	0.036036	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524256	0.64747	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.16324	2.35;2.35	4.9	4.9	0.64082	BRO1 domain (3);	0.035852	0.85682	D	0.000000	T	0.23370	0.0565	M	0.72576	2.205	0.80722	D	1	P	0.41475	0.751	B	0.36959	0.237	T	0.07158	-1.0787	10	0.44086	T	0.13	-4.5596	18.4946	0.90860	0.0:1.0:0.0:0.0	.	275	Q8IUC4	RHPN2_HUMAN	I	275;5;124	ENSP00000254260:M275I;ENSP00000402244:M124I	ENSP00000254260:M275I	M	-	3	0	RHPN2	38185682	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.752000	0.85141	2.432000	0.82394	0.478000	0.44815	ATG	A|0.000;C|0.999;T|0.000	0.000	strong		0.448	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33493842	C	A	33493842	3	1	12	1	0	0	0	0	1	0	0	0	13351	710	25	4	1267	4	RHPN2	19	33493842	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	15501014	33493842	25635141	271	3035										
POU2F2	5452	hgsc.bcm.edu	37	chr19	42626522	42626522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	attagtgtctggtccatttcTttcggtgtctgcaaagagag	11	7	3	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:42626522T>C	ENST00000526816.2	-	3	118	c.103A>G	c.(103-105)Aga>Gga	p.R35G	POU2F2_ENST00000529067.1_Missense_Mutation_p.R35G|POU2F2_ENST00000529952.1_Missense_Mutation_p.R35G|POU2F2_ENST00000560558.1_Missense_Mutation_p.R35G|POU2F2_ENST00000533720.1_Missense_Mutation_p.R35G|POU2F2_ENST00000389341.5_Missense_Mutation_p.R35G|POU2F2_ENST00000342301.4_Missense_Mutation_p.R35G|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560398.1_Missense_Mutation_p.R35G			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	35					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTCCATTTCTTTCGGTGTCT	0.582																																					p.R35G		Atlas-SNP	.											POU2F2_ENST00000292077,NS,carcinoma,+1,2	POU2F2	106	2	0			c.A103G						scavenged	.						139	126	130					19																	42626522		2203	4300	6503	SO:0001583	missense	5452	exon3			CATTTCTTTCGGT		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.103A>G	19.37:g.42626522T>C	ENSP00000431603:p.Arg35Gly	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	193	5	0.0259067	NM_002698	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664192	0.67700	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	D;D;D;D;D	0.85629	-1.95;-2.01;-2.01;-1.75;-1.94	3.56	3.56	0.40772	.	4.474200	0.00481	N	0.000134	T	0.77916	0.4202	L	0.27053	0.805	0.30177	N	0.800776	P;B;P	0.41848	0.763;0.421;0.763	B;B;B	0.33392	0.121;0.073;0.163	T	0.71523	-0.4567	10	0.62326	D	0.03	.	10.035	0.42122	0.0:0.0:0.0:1.0	.	35;35;35	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	G	35;35;35;35;34;35;35;23	ENSP00000373992:R35G;ENSP00000339369:R35G;ENSP00000437221:R35G;ENSP00000437224:R35G;ENSP00000436988:R35G	ENSP00000292077:R35G	R	-	1	2	POU2F2	47318362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.676000	0.37565	1.631000	0.50456	0.391000	0.25812	AGA	.	.	none		0.582	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			C	42626522	T	C	42626522	3	2	12	1	0	0	0	0	1	0	0	0	12272	1617	56	3	1336	3	POU2F2	19	42626522	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	9132680	42626522	16502461	272	3036										
ZNF224	7767	hgsc.bcm.edu	37	chr19	44605366	44605366	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgaagacagcaatccaaaggGaagggaattcaggtaagaat	12	5	1	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:44605366G>T	ENST00000336976.6	+	5	477	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AATCCAAAGGGAAGGGAATTC	0.438																																					p.E75X		Atlas-SNP	.											.	ZNF224	70	.	0			c.G223T						PASS	.						115	106	109					19																	44605366		2203	4300	6503	SO:0001587	stop_gained	7767	exon5			CAAAGGGAAGGGA	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.223G>T	19.37:g.44605366G>T	ENSP00000337368:p.Glu75*	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	43	21	0.488372	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	19.31	3.802189	0.70682	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	1.89	-0.0148	0.13979	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.7134	0.12884	0.2729:0.0:0.7271:0.0	.	.	.	.	X	75	.	ENSP00000269981:E75X	E	+	1	0	ZNF224	49297206	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	-0.140000	0.10342	0.040000	0.15660	0.579000	0.79373	GAA	.	.	none		0.438	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		T	44605366	G	T	44605366	4	4	12	1	0	0	0	0	0	1	0	0	17775	1175	41	4	233	4	ZNF224	19	44605366	Nonsense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1978844	44605366	14523617	273	3037										
ZNF234	10780	hgsc.bcm.edu	37	chr19	44660855	44660855	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tcagagagtccacactgtagAgaaaccattcaaatgtgtgg	10	8	2	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:44660855A>T	ENST00000426739.2	+	6	944	c.686A>T	c.(685-687)gAg>gTg	p.E229V	ZNF234_ENST00000592437.1_Missense_Mutation_p.E229V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	229					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CACACTGTAGAGAAACCATTC	0.413																																					p.E229V		Atlas-SNP	.											ZNF234,colon,carcinoma,-1,1	ZNF234	132	1	0			c.A686T						scavenged	.						135	138	137					19																	44660855		2203	4300	6503	SO:0001583	missense	10780	exon6			CTGTAGAGAAACC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.686A>T	19.37:g.44660855A>T	ENSP00000400878:p.Glu229Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	138	2	0.0144928	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635806	0.47049	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.26810	1.71	4.19	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	L	0.39898	1.24	0.27832	N	0.941419	B	0.19817	0.039	B	0.24006	0.05	T	0.19516	-1.0303	9	0.66056	D	0.02	.	9.0313	0.36260	0.9084:0.0:0.0916:0.0	.	229	Q14588	ZN234_HUMAN	V	229;58	ENSP00000400878:E229V	ENSP00000400878:E229V	E	+	2	0	ZNF226	49352695	0.996000	0.38824	0.788000	0.31933	0.996000	0.88848	1.579000	0.36536	0.752000	0.32923	0.477000	0.44152	GAG	.	.	none		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44660855	A	T	44660855	3	4	12	1	0	0	0	0	1	0	0	0	17784	304	11	5	700	5	ZNF234	19	44660855	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	55489	44660855	14468128	274	3038										
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305613	48305624	+	In_Frame_Del	DEL	TTGGGCCTGAGA	TTGGGCCTGAGA	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcctgggatcgggcctgggtTtgggcctgagattgggcctg					rs201007421		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	TTGGGCCTGAGA	TTGGGCCTGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:48305613_48305624delTTGGGCCTGAGA	ENST00000322175.3	-	2	799_810	c.644_655delTCTCAGGCCCAA	c.(643-657)atctcaggcccaaac>aac	p.ISGP215del	TPRX1_ENST00000535759.1_In_Frame_Del_p.ISGP312del|TPRX1_ENST00000543508.1_In_Frame_Del_p.ISGP205del	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	215	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gggcctgggtttgggcctgagattgggcctga	0.67																																					p.215_219del	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-Indel	.											TPRX1,NS,carcinoma,0,1	TPRX1	46	1	0			c.645_656del						PASS	.																																			SO:0001651	inframe_deletion	284355	exon2			.		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.644_655delTCTCAGGCCCAA	19.37:g.48305613_48305624delTTGGGCCTGAGA	ENSP00000323455:p.Ile215_Pro218del	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	39	11	0.282051	NM_198479	A5D8Y3|B2RPL5	In_Frame_Del	DEL	ENST00000322175.3	37	CCDS33066.1																																																																																			.	.	none		0.67	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		-	48305624	TTGGGCCTGAGA	-	48305613	7	5	12	1	0	1	0	1	0	0	0	0	16419	1841	64	0	584	0	TPRX1	19	48305613	In_Frame_Del	DEL	TTGGGCCTGAGA	TCGA-FF-8043-01A-11D-2210-10	3644758	48305613	10823370	275	3039										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888049	52888049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	atagaatgcacacgggagagCaaccttacaaatgtaatgaa	9	7	0	3	rs75346003	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:52888049C>A	ENST00000422689.2	+	4	1231	c.1216C>A	c.(1216-1218)Caa>Aaa	p.Q406K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	406					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CACGGGAGAGCAACCTTACAA	0.398																																					p.Q406K		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,2	ZNF880	45	2	0			c.C1216A						scavenged	.						69	63	65					19																	52888049		1568	3582	5150	SO:0001583	missense	400713	exon4			GGAGAGCAACCTT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1216C>A	19.37:g.52888049C>A	ENSP00000406318:p.Gln406Lys	Somatic	33	7	0.212121		WXS	Illumina HiSeq	Phase_I	37	12	0.324324	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.634723	0.00114	.	.	ENSG00000221923	ENST00000422689	T	0.10860	2.83	1.84	0.731	0.18277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00128	-2.045	0.20638	N	0.999879	B	0.17667	0.023	B	0.14023	0.01	T	0.46105	-0.9215	8	.	.	.	.	6.7224	0.23338	0.7399:0.2601:0.0:0.0	.	406	Q6PDB4	ZN880_HUMAN	K	406	ENSP00000406318:Q406K	.	Q	+	1	0	ZNF880	57579861	0.006000	0.16342	0.407000	0.26434	0.151000	0.21798	0.708000	0.25719	0.007000	0.14760	-0.493000	0.04662	CAA	C|0.872;A|0.128	0.128	strong		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52888049	C	A	52888049	3	1	12	1	0	0	0	0	1	0	0	0	18194	711	25	4	1230	4	ZNF880	19	52888049	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	4582436	52888049	6240934	276	3040										
ZNF347	84671	hgsc.bcm.edu	37	chr19	53652059	53652059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tactgaggtcaaaacaagagAttcctgcttatgaaaagaaa	8	6	1	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:53652059A>G	ENST00000334197.7	-	4	214	c.146T>C	c.(145-147)aTc>aCc	p.I49T	ZNF347_ENST00000601804.1_5'UTR|ZNF347_ENST00000601469.2_Missense_Mutation_p.I50T|ZNF347_ENST00000452676.2_Missense_Mutation_p.I50T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAACAAGAGATTCCTGCTTA	0.428																																					p.I50T	Melanoma(64;205 1597 17324 45721)	Atlas-SNP	.											ZNF347,NS,carcinoma,+1,1	ZNF347	87	1	0			c.T149C						scavenged	.						138	130	133					19																	53652059		2203	4300	6503	SO:0001583	missense	84671	exon4			CAAGAGATTCCTG	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.146T>C	19.37:g.53652059A>G	ENSP00000334146:p.Ile49Thr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	150	2	0.0133333	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	4.438	0.081068	0.08533	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.00808	5.67;5.67	1.82	-0.463	0.12164	Krueppel-associated box (3);	.	.	.	.	T	0.00875	0.0029	L	0.52266	1.64	0.09310	N	1	P;B	0.34684	0.463;0.118	B;B	0.29785	0.107;0.015	T	0.45745	-0.9240	9	0.23891	T	0.37	.	2.3988	0.04396	0.5061:0.3017:0.1922:0.0	.	50;49	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	49;50	ENSP00000334146:I49T;ENSP00000405218:I50T	ENSP00000334146:I49T	I	-	2	0	ZNF347	58343871	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.425000	0.21346	-0.194000	0.10399	0.477000	0.44152	ATC	.	.	none		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		G	53652059	A	G	53652059	3	3	12	1	0	0	0	0	1	0	0	0	17858	333	12	2	2381	2	ZNF347	19	53652059	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	764010	53652059	5476924	277	3041										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54725980	54725980	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acagggctgggcagggctgaGagggtgggtttgctgtaggc	21	6	0	1	rs150024950	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:54725980G>A	ENST00000391750.1	-	5	514	c.378C>T	c.(376-378)ctC>ctT	p.L126L	LILRB3_ENST00000424807.1_Silent_p.L126L|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Silent_p.L126L|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Silent_p.L126L|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000346401.6_Silent_p.L126L|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	126	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L126L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGGGCTGAGAGGGTGGGTT	0.582													.|||	570	0.113818	0.0507	0.1037	5008	,	,		13484	0.0486		0.1471	False		,,,				2504	0.2393				p.L126L		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	1	Substitution - coding silent(1)	kidney(1)	c.C378T						scavenged	.						55	36	42					19																	54725980		2117	3871	5988	SO:0001819	synonymous_variant	11025	exon4			GGCTGAGAGGGTG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.378C>T	19.37:g.54725980G>A		Somatic	120	4	0.0333333		WXS	Illumina HiSeq	Phase_I	137	6	0.0437956	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			G|0.947;A|0.053	0.053	strong		0.582	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725980	G	A	54725980	2	1	12	1	0	0	0	0	0	0	0	1	8792	929	33	2		2	LILRB3	19	54725980	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1073921	54725980	4403003	278	3042										
ZNF628	89887	hgsc.bcm.edu	37	chr19	55994387	55994387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ttcacccactcctccaacctGctgctgcaccagcgcacgca	6	20	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:55994387G>A	ENST00000598519.1	+	3	2380	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.L605L|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	609					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTCCAACCTGCTGCTGCACC	0.697																																					p.L609L		Atlas-SNP	.											ZNF628_ENST00000391718,NS,carcinoma,+2,2	ZNF628	75	2	0			c.G1827A						scavenged	.						32	35	34					19																	55994387		2203	4297	6500	SO:0001819	synonymous_variant	89887	exon3			CAACCTGCTGCTG	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1827G>A	19.37:g.55994387G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_033113	Q86X34	Silent	SNP	ENST00000598519.1	37	CCDS33116.3																																																																																			.	.	none		0.697	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		A	55994387	G	A	55994387	2	1	12	1	0	0	0	0	0	0	0	1	18049	1306	46	2		2	ZNF628	19	55994387	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1268407	55994387	3134596	279	3043										
PEG3	5178	hgsc.bcm.edu	37	chr19	57325511	57325511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tttggctgtccagcctctccAatgggctctgcagcctctcc	9	16	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:57325511A>G	ENST00000326441.9	-	10	4662	c.4299T>C	c.(4297-4299)atT>atC	p.I1433I	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.I1307I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.I1309I|PEG3_ENST00000423103.2_Silent_p.I1433I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1433	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCTCCAATGGGCTCTG	0.587																																					p.I1433I		Atlas-SNP	.											ZIM2_ENST00000326441,NS,carcinoma,-1,2	PEG3	414	2	0			c.T4299C						scavenged	.						47	48	48					19																	57325511		2202	4299	6501	SO:0001819	synonymous_variant	5178	exon9			CTCTCCAATGGGC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4299T>C	19.37:g.57325511A>G		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	179	3	0.0167598	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																			.	.	none		0.587	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57325511	A	G	57325511	2	3	12	1	0	0	0	0	0	0	0	1	11720	126	5	2		2	PEG3	19	57325511	Silent	SNP	A	TCGA-FF-8043-01A-11D-2210-10	1331124	57325511	1803472	280	3044										
ZNF419	79744	hgsc.bcm.edu	37	chr19	58005146	58005146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgcaatgaatgtgggagattCtttagagagaattccaccct	10	7	1	4			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr19:58005146C>G	ENST00000221735.7	+	5	1407	c.1221C>G	c.(1219-1221)ttC>ttG	p.F407L	ZNF419_ENST00000415379.2_Missense_Mutation_p.F361L|ZNF419_ENST00000354197.4_Missense_Mutation_p.F395L|ZNF419_ENST00000347466.6_Missense_Mutation_p.F375L|ZNF419_ENST00000442920.2_Missense_Mutation_p.F394L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.F395L|ZNF419_ENST00000424930.2_Missense_Mutation_p.F408L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GTGGGAGATTCTTTAGAGAGA	0.423																																					p.F408L		Atlas-SNP	.											ZNF419_ENST00000424930,NS,carcinoma,0,3	ZNF419	134	3	0			c.C1224G						scavenged	.						91	96	95					19																	58005146		2202	4299	6501	SO:0001583	missense	79744	exon5			GAGATTCTTTAGA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1221C>G	19.37:g.58005146C>G	ENSP00000221735:p.Phe407Leu	Somatic	86	4	0.0465116		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_001098491	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	7.041	0.562596	0.13498	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	2.19	-4.38	0.03622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01679	-0.765	0.80722	D	1	B;B;B;B;B;B;B	0.19445	0.001;0.002;0.003;0.0;0.036;0.004;0.036	B;B;B;B;B;B;B	0.19666	0.001;0.005;0.011;0.002;0.026;0.006;0.026	T	0.27191	-1.0081	9	0.45353	T	0.12	.	6.1318	0.20209	0.0:0.3241:0.1371:0.5388	.	361;361;394;395;408;375;407	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	L	382;408;395;395;394;408;375;361;407	ENSP00000388864:F408L;ENSP00000390916:F395L;ENSP00000346136:F395L;ENSP00000414709:F394L;ENSP00000299860:F375L;ENSP00000392129:F361L;ENSP00000221735:F407L	ENSP00000221735:F407L	F	+	3	2	ZNF419	62696958	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-4.624000	0.00207	-1.133000	0.02903	-1.021000	0.02439	TTC	.	.	none		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		G	58005146	C	G	58005146	3	3	12	1	0	0	0	0	1	0	0	0	17893	912	32	4	1242	4	ZNF419	19	58005146	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	679635	58005146	1123837	281	3045										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896052	1896052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aagttccggaaagggagcccCgatgacgtggagtttaagtc	14	8	0	1	rs139878822|rs202172737	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:1896052C>T	ENST00000358771.4	+	2	539	c.387C>T	c.(385-387)ccC>ccT	p.P129P	SIRPA_ENST00000400068.3_Silent_p.P129P|SIRPA_ENST00000356025.3_Silent_p.P129P	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	129	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D131delD(2)|p.P129P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGGGAGCCCCGATGACGTGG	0.532																																					p.P129P	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,NS,carcinoma,0,1	SIRPA	83	1	3	Deletion - In frame(2)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	c.C387T						scavenged	.						114	98	103					20																	1896052		2120	4008	6128	SO:0001819	synonymous_variant	140885	exon3			GAGCCCCGATGAC	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.387C>T	20.37:g.1896052C>T		Somatic	69	68	0.985507		WXS	Illumina HiSeq	Phase_I	110	107	0.972727	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																			C|0.872;T|0.128	0.128	strong		0.532	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		T	1896052	C	T	1896052	2	4	12	1	0	0	0	0	0	0	0	1	14332	639	23	1		1	SIRPA	20	1896052	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10		1896052	61129468	282	3046										
SMOX	54498	hgsc.bcm.edu	37	chr20	4158174	4158174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gctaccttaccaaccacggcCgcaggatccccaaggacgtg	10	16	0	0	rs147730753		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:4158174C>T	ENST00000305958.4	+	3	610	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	SMOX_ENST00000339123.6_Missense_Mutation_p.R129C|SMOX_ENST00000346595.2_Missense_Mutation_p.R129C|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.R129C|SMOX_ENST00000278795.3_Missense_Mutation_p.R129C	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	129					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CAACCACGGCCGCAGGATCCC	0.582																																					p.R129C		Atlas-SNP	.											SMOX_ENST00000278795,NS,carcinoma,-1,2	SMOX	119	2	0			c.C385T						scavenged	.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	58	50	52		385,385,385,385	1	0.7	20	dbSNP_134	52	3,8595	2.2+/-6.3	0,3,4296	yes	missense,missense,missense,missense	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	180,180,180,180	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign	129/556,129/503,129/191,129/533	4158174	3,13001	2203	4299	6502	SO:0001583	missense	54498	exon3			CACGGCCGCAGGA	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.385C>T	20.37:g.4158174C>T	ENSP00000307252:p.Arg129Cys	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_175839	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870077	0.33069	0.0	3.49E-4	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460	D;D;D;T;D	0.92545	-3.06;-3.06;-3.06;0.87;-3.06	5.31	0.99	0.19807	Amine oxidase (1);	0.692056	0.15105	N	0.280320	D	0.84529	0.5492	L	0.34521	1.04	0.27559	N	0.950256	B;B;B;B;B;B	0.14012	0.009;0.001;0.0;0.004;0.008;0.001	B;B;B;B;B;B	0.09377	0.003;0.002;0.0;0.002;0.001;0.004	T	0.73344	-0.4012	10	0.49607	T	0.09	-0.1544	5.2872	0.15708	0.1412:0.6092:0.0:0.2496	.	106;129;129;129;129;129	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	C	129	ENSP00000344595:R129C;ENSP00000307252:R129C;ENSP00000278795:R129C;ENSP00000341775:R129C;ENSP00000368773:R129C	ENSP00000278795:R129C	R	+	1	0	SMOX	4106174	0.992000	0.36948	0.741000	0.31004	0.985000	0.73830	1.062000	0.30555	-0.038000	0.13624	-0.251000	0.11542	CGC	C|1.000;T|0.000	0.000	weak		0.582	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		T	4158174	C	T	4158174	3	4	12	1	0	0	0	0	1	0	0	0	14803	652	23	1	391	1	SMOX	20	4158174	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2262122	4158174	58867346	283	3047										
BMP2	650	hgsc.bcm.edu	37	chr20	6750880	6750880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccgcaggaagttcgcggcggCgtcgtcgggccgcccctcat	15	16	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:6750880C>T	ENST00000378827.4	+	2	1326	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	36					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						TTCGCGGCGGCGTCGTCGGGC	0.697																																					p.A36V		Atlas-SNP	.											.	BMP2	45	.	0			c.C107T						PASS	.						16	18	17					20																	6750880		2198	4294	6492	SO:0001583	missense	650	exon2			CGGCGGCGTCGTC		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.107C>T	20.37:g.6750880C>T	ENSP00000368104:p.Ala36Val	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	43	14	0.325581	NM_001200		Missense_Mutation	SNP	ENST00000378827.4	37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860846	0.32884	.	.	ENSG00000125845	ENST00000378827	T	0.72394	-0.65	5.02	5.02	0.67125	.	0.340113	0.31199	N	0.008078	T	0.50017	0.1591	N	0.08118	0	0.22446	N	0.999094	B	0.28820	0.224	B	0.18263	0.021	T	0.40905	-0.9538	10	0.31617	T	0.26	.	16.1926	0.82004	0.0:1.0:0.0:0.0	.	36	P12643	BMP2_HUMAN	V	36	ENSP00000368104:A36V	ENSP00000368104:A36V	A	+	2	0	BMP2	6698880	0.348000	0.24861	0.012000	0.15200	0.042000	0.13812	5.100000	0.64560	2.466000	0.83321	0.460000	0.39030	GCG	.	.	none		0.697	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			T	6750880	C	T	6750880	3	4	12	1	0	0	0	0	1	0	0	0	1459	768	27	1	109	1	BMP2	20	6750880	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	2592706	6750880	56274640	284	3048										
PAK7	57144	hgsc.bcm.edu	37	chr20	9560944	9560944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ggacctctgccgcatggtggGctgagggcttgtctgattca	15	10	3	2			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:9560944G>A	ENST00000378429.3	-	5	1384	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	PAK7_ENST00000378423.1_Missense_Mutation_p.P280S|PAK7_ENST00000353224.5_Missense_Mutation_p.P280S|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	280	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CGCATGGTGGGCTGAGGGCTT	0.552																																					p.P280S		Atlas-SNP	.											.	PAK7	194	.	0			c.C838T						PASS	.						169	147	155					20																	9560944		2203	4300	6503	SO:0001583	missense	57144	exon4			TGGTGGGCTGAGG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.838C>T	20.37:g.9560944G>A	ENSP00000367686:p.Pro280Ser	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	400	125	0.3125	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625175	0.46840	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.29917	1.55;1.55;1.55	5.6	5.6	0.85130	.	0.047698	0.85682	D	0.000000	T	0.26122	0.0637	L	0.29908	0.895	0.80722	D	1	P;P	0.48503	0.911;0.911	B;B	0.39840	0.311;0.311	T	0.01492	-1.1341	9	.	.	.	.	19.9969	0.97387	0.0:0.0:1.0:0.0	.	280;280	B0AZM9;Q9P286	.;PAK7_HUMAN	S	280;280;280;228	ENSP00000367686:P280S;ENSP00000322957:P280S;ENSP00000367679:P280S	.	P	-	1	0	PAK7	9508944	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	9.424000	0.97464	2.813000	0.96785	0.637000	0.83480	CCC	.	.	none		0.552	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9560944	G	A	9560944	3	1	12	1	0	0	0	0	1	0	0	0	11405	1203	42	2	1349	2	PAK7	20	9560944	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2810064	9560944	53464576	285	3049										
JAG1	182	hgsc.bcm.edu	37	chr20	10639293	10639293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaagtgggcaacgcccgtgtTctgcttcagcgtctgccact	11	13	3	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:10639293T>C	ENST00000254958.5	-	4	1032	c.517A>G	c.(517-519)Aac>Gac	p.N173D	JAG1_ENST00000423891.2_Missense_Mutation_p.N14D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	173					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACGCCCGTGTTCTGCTTCAGC	0.502									Alagille Syndrome																												p.N173D		Atlas-SNP	.											JAG1_ENST00000254958,NS,carcinoma,+2,2	JAG1	213	2	0			c.A517G						scavenged	.						129	115	120					20																	10639293		2203	4300	6503	SO:0001583	missense	182	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	CCGTGTTCTGCTT	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.517A>G	20.37:g.10639293T>C	ENSP00000254958:p.Asn173Asp	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	190	2	0.0105263	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666539	0.47677	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.95949	-3.86;-3.86	5.36	5.36	0.76844	Delta/Serrate/lag-2 (DSL) protein (2);	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.76574	2.34	0.47065	D	0.999303	B	0.20887	0.049	B	0.29440	0.102	D	0.93192	0.6584	10	0.44086	T	0.13	.	15.3473	0.74350	0.0:0.0:0.0:1.0	.	173	P78504	JAG1_HUMAN	D	173;14	ENSP00000254958:N173D;ENSP00000389519:N14D	ENSP00000254958:N173D	N	-	1	0	JAG1	10587293	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.277000	0.72608	2.036000	0.60181	0.421000	0.28195	AAC	.	.	none		0.502	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		C	10639293	T	C	10639293	3	2	12	1	0	0	0	0	1	0	0	0	7934	1783	62	2	3231	2	JAG1	20	10639293	Missense_Mutation	SNP	T	TCGA-FF-8043-01A-11D-2210-10	1078349	10639293	52386227	286	3050										
WFDC9	259240	hgsc.bcm.edu	37	chr20	44238795	44238795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caactccagagatgaacatgAcgagtagaagaatccagggc	11	9	0	5			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:44238795A>G	ENST00000326000.1	-	3	243	c.26T>C	c.(25-27)gTc>gCc	p.V9A		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	9						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GATGAACATGACGAGTAGAAG	0.498																																					p.V9A		Atlas-SNP	.											.	WFDC9	10	.	0			c.T26C						PASS	.						141	123	129					20																	44238795		2203	4300	6503	SO:0001583	missense	259240	exon3			AACATGACGAGTA	AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"WAP four-disulfide core domain containing"	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.26T>C	20.37:g.44238795A>G	ENSP00000320532:p.Val9Ala	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	120	54	0.45	NM_147198	Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	ENST00000326000.1	37	CCDS13362.1	.	.	.	.	.	.	.	.	.	.	A	9.066	0.995806	0.19043	.	.	ENSG00000180205	ENST00000326000	T	0.36157	1.27	3.71	-1.07	0.09968	.	0.959088	0.08545	N	0.929885	T	0.17789	0.0427	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.26224	-1.0109	9	0.27785	T	0.31	.	0.372	0.00381	0.4004:0.1899:0.2258:0.184	.	9	Q8NEX5	WFDC9_HUMAN	A	9	ENSP00000320532:V9A	ENSP00000320532:V9A	V	-	2	0	WFDC9	43672209	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.580000	0.05827	-0.234000	0.09782	-0.280000	0.10049	GTC	.	.	none		0.498	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106945.1			G	44238795	A	G	44238795	3	3	12	1	0	0	0	0	1	0	0	0	17354	275	10	2	255	2	WFDC9	20	44238795	Missense_Mutation	SNP	A	TCGA-FF-8043-01A-11D-2210-10	33599502	44238795	18786725	287	3051										
PMEPA1	56937	hgsc.bcm.edu	37	chr20	56227142	56227142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cctttctgtttatccttctcTttgctccagatggctgcgct	7	13	2	1	rs138355480		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr20:56227142T>C	ENST00000341744.3	-	4	1150	c.831A>G	c.(829-831)aaA>aaG	p.K277K	PMEPA1_ENST00000347215.4_Silent_p.K242K|PMEPA1_ENST00000265626.4_Silent_p.K227K|PMEPA1_ENST00000395816.3_Silent_p.K227K|PMEPA1_ENST00000395814.1_Silent_p.K227K	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	277					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TATCCTTCTCTTTGCTCCAGA	0.627																																					p.K277K		Atlas-SNP	.											.	PMEPA1	29	.	0			c.A831G						PASS	.	T	,,,	0,4390		0,0,2195	27	30	29		831,726,681,681	-6.6	0.5	20	dbSNP_134	29	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PMEPA1	NM_020182.3,NM_199169.1,NM_199170.1,NM_199171.1	,,,	0,1,6484	CC,CT,TT		0.0117,0.0,0.0077	,,,	277/288,242/253,227/238,227/238	56227142	1,12969	2195	4290	6485	SO:0001819	synonymous_variant	56937	exon4			CTTCTCTTTGCTC	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.831A>G	20.37:g.56227142T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	115	6	0.0521739	NM_020182	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	CCDS13463.1																																																																																			T|1.000;C|0.000	0.000	weak		0.627	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		C	56227142	T	C	56227142	2	2	12	1	0	0	0	0	0	0	0	1	12132	1606	56	3		3	PMEPA1	20	56227142	Silent	SNP	T	TCGA-FF-8043-01A-11D-2210-10	11988347	56227142	6798378	288	3052										
NCAM2	4685	hgsc.bcm.edu	37	chr21	22656612	22656612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	aaaaggaaggtgttaggtcaCggttaaccatctacaatgca	10	7	2	0	rs576610818		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr21:22656612C>T	ENST00000400546.1	+	3	478	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	NCAM2_ENST00000535285.1_Missense_Mutation_p.R102W|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R77G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGTTAGGTCACGGTTAACCAT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		13851	0.0		0.0	False		,,,				2504	0.001				p.R77W		Atlas-SNP	.											NCAM2,colon,carcinoma,0,2	NCAM2	220	2	1	Substitution - Missense(1)	lung(1)	c.C229T						PASS	.						124	117	119					21																	22656612		1886	4109	5995	SO:0001583	missense	4685	exon3			AGGTCACGGTTAA		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.229C>T	21.37:g.22656612C>T	ENSP00000383392:p.Arg77Trp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	130	31	0.238462	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868687	0.51588	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.68479	-0.33;-0.33	5.58	2.61	0.31194	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167812	0.49916	D	0.000140	T	0.46814	0.1412	N	0.26162	0.8	0.49130	D	0.999757	P;P	0.49253	0.921;0.921	B;B	0.38458	0.274;0.274	T	0.32903	-0.9889	10	0.44086	T	0.13	-14.5846	7.7334	0.28799	0.4708:0.4548:0.0:0.0744	.	102;77	B7Z841;O15394	.;NCAM2_HUMAN	W	77;102	ENSP00000383392:R77W;ENSP00000441887:R102W	ENSP00000383392:R77W	R	+	1	2	NCAM2	21578483	0.379000	0.25123	0.999000	0.59377	0.990000	0.78478	0.230000	0.17852	0.230000	0.21059	0.591000	0.81541	CGG	.	.	none		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22656612	C	T	22656612	3	4	12	1	0	0	0	0	1	0	0	0	10203	527	19	1	239	1	NCAM2	21	22656612	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10		22656612	25473283	289	3053										
KRTAP19-7	337974	hgsc.bcm.edu	37	chr21	31933581	31933581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tccacagccgtagcctaggcCtccatagtagctgccggagt	11	14	0	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr21:31933581C>T	ENST00000334849.2	-	1	52	c.28G>A	c.(28-30)Ggc>Agc	p.G10S		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	10						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TAGCCTAGGCCTCCATAGTAG	0.527																																					p.G10S		Atlas-SNP	.											KRTAP19-7,colon,carcinoma,0,1	KRTAP19-7	23	1	0			c.G28A						scavenged	.						126	108	114					21																	31933581		2203	4300	6503	SO:0001583	missense	337974	exon1			CTAGGCCTCCATA	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"Keratin associated proteins"	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.28G>A	21.37:g.31933581C>T	ENSP00000334696:p.Gly10Ser	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	304	4	0.0131579	NM_181614	Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	3.803	-0.041391	0.07452	.	.	ENSG00000244362	ENST00000334849	T	0.15603	2.41	4.15	2.19	0.27852	.	0.625273	0.14144	N	0.338466	T	0.13030	0.0316	.	.	.	0.09310	N	1	B	0.25272	0.122	B	0.24155	0.051	T	0.23547	-1.0185	9	0.87932	D	0	.	6.2952	0.21081	0.0:0.7327:0.0:0.2673	.	10	Q3SYF9	KR197_HUMAN	S	10	ENSP00000334696:G10S	ENSP00000334696:G10S	G	-	1	0	KRTAP19-7	30855452	0.018000	0.18449	0.029000	0.17559	0.008000	0.06430	0.303000	0.19210	0.413000	0.25759	0.405000	0.27470	GGC	.	.	none		0.527	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			T	31933581	C	T	31933581	3	4	12	1	0	0	0	0	1	0	0	0	8534	681	24	2	166	2	KRTAP19-7	21	31933581	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	9276969	31933581	16196314	290	3054										
RUNX1	861	hgsc.bcm.edu	37	chr21	36252870	36252870	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gtacctcttccacttcgaccGacaaacctgaggtcattaaa	6	13	2	1	rs200907577		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr21:36252870G>A	ENST00000344691.4	-	2	1988	c.411C>T	c.(409-411)gtC>gtT	p.V137V	RUNX1_ENST00000358356.5_Silent_p.V137V|RUNX1_ENST00000437180.1_Silent_p.V164V|RUNX1_ENST00000486278.2_Silent_p.V140V|RUNX1_ENST00000399240.1_Silent_p.V137V|RUNX1_ENST00000325074.5_Silent_p.V152V|RUNX1_ENST00000300305.3_Silent_p.V164V	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	137	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G165fs*1(3)|p.V164_G165insG(1)|p.?(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CACTTCGACCGACAAACCTGA	0.438			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																p.V164V		Atlas-SNP	.		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	RUNX1,NS,lymphoid_neoplasm,-1,1	RUNX1	687	1	5	Insertion - Frameshift(3)|Insertion - In frame(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(5)	c.C492T						scavenged	.	G	,,	0,4406		0,0,2203	122	108	113		411,411,492	3.3	1	21		113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	RUNX1	NM_001001890.2,NM_001122607.1,NM_001754.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	137/454,137/251,164/481	36252870	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	861	exon5			TCGACCGACAAAC	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.411C>T	21.37:g.36252870G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	213	4	0.0187793	NM_001754	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	CCDS42922.1																																																																																			G|0.999;A|0.001	0.001	weak		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			A	36252870	G	A	36252870	2	1	12	1	0	0	0	0	0	0	0	1	13746	1045	37	1		1	RUNX1	21	36252870	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	4319289	36252870	11877025	291	3055										
PDE9A	5152	hgsc.bcm.edu	37	chr21	44181017	44181017	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ccatcccggctacaacaacaCgtatgtacaggattttctct	6	13	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr21:44181017C>T	ENST00000291539.6	+	13	1145	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	PDE9A_ENST00000398234.3_Splice_Site_p.T261M|PDE9A_ENST00000349112.3_Splice_Site_p.T234M|PDE9A_ENST00000335440.6_Splice_Site_p.T260M|PDE9A_ENST00000335512.4_Splice_Site_p.T302M|PDE9A_ENST00000398227.3_Splice_Site_p.T202M|PDE9A_ENST00000328862.6_Splice_Site_p.T336M|PDE9A_ENST00000398224.3_Splice_Site_p.T235M|PDE9A_ENST00000398236.3_Splice_Site_p.T276M|PDE9A_ENST00000398225.3_Splice_Site_p.T321M|PDE9A_ENST00000398229.3_Splice_Site_p.T228M|PDE9A_ENST00000380328.2_Splice_Site_p.T309M|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000539837.1_Splice_Site_p.T234M|PDE9A_ENST00000398232.3_Splice_Site_p.T295M	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	362	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TACAACAACACGTATGTACAG	0.502																																					p.T362M		Atlas-SNP	.											PDE9A,NS,carcinoma,0,1	PDE9A	69	1	0			c.C1085T						scavenged	.						116	101	106					21																	44181017		2203	4300	6503	SO:0001630	splice_region_variant	5152	exon13			ACAACACGTATGT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1085+1C>T	21.37:g.44181017C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340140	0.81911	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.29	5.29	0.74685	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.096026	0.64402	D	0.000001	D	0.83064	0.5173	L	0.48877	1.53	0.58432	D	0.999993	P;D;P;D;D;D;D;D;P;P;D;P;D;D;D;D	0.67145	0.949;0.974;0.949;0.978;0.989;0.996;0.991;0.974;0.866;0.866;0.978;0.949;0.979;0.974;0.978;0.979	B;B;B;B;P;P;B;B;B;B;B;B;B;P;B;P	0.52031	0.259;0.371;0.259;0.259;0.524;0.688;0.411;0.422;0.116;0.116;0.259;0.259;0.358;0.524;0.259;0.656	D	0.84786	0.0776	10	0.62326	D	0.03	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	234;295;276;261;336;321;254;302;145;202;228;234;260;309;235;362	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	M	302;234;362;309;295;261;276;336;260;321;228;202;234;235	ENSP00000335242:T302M;ENSP00000441899:T234M;ENSP00000291539:T362M;ENSP00000369685:T309M;ENSP00000381287:T295M;ENSP00000381289:T261M;ENSP00000381291:T276M;ENSP00000328699:T336M;ENSP00000335365:T260M;ENSP00000381281:T321M;ENSP00000381285:T228M;ENSP00000381283:T202M;ENSP00000344730:T234M;ENSP00000381280:T235M	ENSP00000291539:T362M	T	+	2	0	PDE9A	43054086	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.033000	0.76504	2.470000	0.83445	0.655000	0.94253	ACG	.	.	none		0.502	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		Missense_Mutation	T	44181017	C	T	44181017	5	4	12	1	0	0	0	0	0	0	1	0	11655	550	19	1	1215	1	PDE9A	21	44181017	Splice_Site	SNP	C	TCGA-FF-8043-01A-11D-2210-10	7928147	44181017	3948878	292	3056										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gatggacttgcagcagacagGcttgcagcagacggacacac	13	11	0	2	rs76536096|rs67692969|rs71199610	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																					p.P190S		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.C568T						PASS	.						110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679	exon1			AGACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	201	12	0.0597015	NM_198693	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT	G|0.917;A|0.083	0.083	strong		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	12	1	0	0	0	0	1	0	0	0	8509	1203	42	2	203	2	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	1789757	45970774	2159121	293	3057										
POTEH	23784	hgsc.bcm.edu	37	chr22	16287562	16287562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	ctcttgccgctccccctgcaGcaggggaagcagtggcagca	13	15	1	0	rs202187764	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr22:16287562G>C	ENST00000343518.6	-	1	375	c.324C>G	c.(322-324)tgC>tgG	p.C108W		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	108										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCAGCAGGGGAAGC	0.587																																					p.C108W		Atlas-SNP	.											POTEH,NS,carcinoma,0,1	POTEH	114	1	0			c.C324G						scavenged	.						97	113	107					22																	16287562		2057	3890	5947	SO:0001583	missense	23784	exon1			CCTGCAGCAGGGG	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.324C>G	22.37:g.16287562G>C	ENSP00000340610:p.Cys108Trp	Somatic	443	14	0.0316027		WXS	Illumina HiSeq	Phase_I	525	17	0.032381	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.136	0.023586	0.08006	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.37411	1.2	.	.	.	.	.	.	.	.	T	0.40297	0.1111	L	0.53249	1.67	0.09310	N	1	P	0.46578	0.88	P	0.51615	0.675	T	0.21314	-1.0249	7	0.38643	T	0.18	.	.	.	.	.	108	Q6S545	POTEH_HUMAN	W	108	ENSP00000340610:C108W	ENSP00000340610:C108W	C	-	3	2	POTEH	14667562	0.075000	0.21258	0.021000	0.16686	0.022000	0.10575	0.263000	0.18478	0.269000	0.21961	0.274000	0.19336	TGC	G|0.975;C|0.025	0.025	strong		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287562	G	C	16287562	3	2	12	1	0	0	0	0	1	0	0	0	12267	963	34	4	1353	4	POTEH	22	16287562	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		16287562	35017004	294	3058										
RIMBP3	85376	hgsc.bcm.edu	37	chr22	20460113	20460115	+	In_Frame_Del	DEL	CCG	CCG	-													0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acgccgcagctgcttgttctCcgcttgcagggtataacagc					rs201820173		TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr22:20460113_20460115delCCG	ENST00000426804.1	-	1	1671_1673	c.1187_1189delCGG	c.(1186-1191)gcggag>gag	p.A396del		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	396				A -> E (in Ref. 2; BAB33336). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGCTTGTTCTCCGCTTGCAGGGT	0.675																																					p.396_397del		Pindel	.											.	RIMBP3	42	.	0			c.1188_1190del						PASS	.																																			SO:0001651	inframe_deletion	85376	exon1			.	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1187_1189delCGG	22.37:g.20460113_20460115delCCG	ENSP00000391564:p.Ala396del	Somatic	24	.	.		WXS	Illumina HiSeq	Phase_I	35	27	0.771	NM_015672	Q8IYP7|Q9BY94|Q9UFQ5	In_Frame_Del	DEL	ENST00000426804.1	37	CCDS46665.1																																																																																			.	.	alt		0.675	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		-	20460115	CCG	-	20460113	7	5	12	1	0	1	0	1	0	0	0	0	13364	864	30	0	3734	0	RIMBP3	22	20460113	In_Frame_Del	DEL	CCG	TCGA-FF-8043-01A-11D-2210-10	4172551	20460113	30844453	295	3059										
XPNPEP3	63929	hgsc.bcm.edu	37	chr22	41305142	41305142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	acagtttgaatttgaatgccGggctcgtggcgcagacattt	12	8	0	3			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr22:41305142G>A	ENST00000357137.4	+	6	956	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R268Q|XPNPEP3_ENST00000541156.1_3'UTR	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	291					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTGAATGCCGGGCTCGTGGC	0.473																																					p.R291Q	Ovarian(145;306 1841 7037 21878 30110)	Atlas-SNP	.											XPNPEP3,NS,carcinoma,0,1	XPNPEP3	46	1	0			c.G872A						scavenged	.						173	156	162					22																	41305142		2203	4300	6503	SO:0001583	missense	63929	exon6			AATGCCGGGCTCG		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.872G>A	22.37:g.41305142G>A	ENSP00000349658:p.Arg291Gln	Somatic	303	2	0.00660066		WXS	Illumina HiSeq	Phase_I	190	4	0.0210526	NM_022098	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	37	6.013765	0.97200	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.76839	-1.05;-1.05	5.58	5.58	0.84498	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88851	0.3319	10	0.51188	T	0.08	.	19.1701	0.93574	0.0:0.0:1.0:0.0	.	291	Q9NQH7	XPP3_HUMAN	Q	291;268	ENSP00000349658:R291Q;ENSP00000441942:R268Q	ENSP00000349658:R291Q	R	+	2	0	XPNPEP3	39635088	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.682000	0.91232	2.642000	0.89623	0.561000	0.74099	CGG	.	.	none		0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		A	41305142	G	A	41305142	3	1	12	1	0	0	0	0	1	0	0	0	17441	1116	39	1	894	1	XPNPEP3	22	41305142	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10	20845029	41305142	9999424	296	3060										
TTLL12	23170	hgsc.bcm.edu	37	chr22	43576904	43576904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	tgctgcagctgctggcgcgcGtgctccacacggcacgtcca	13	16	0	0	rs2071723	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chr22:43576904G>A	ENST00000216129.6	-	3	453	c.390C>T	c.(388-390)caC>caT	p.H130H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	130					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGGCGCGCGTGCTCCACAC	0.662													G|||	1641	0.327676	0.2383	0.3905	5008	,	,		17213	0.3165		0.4105	False		,,,				2504	0.3303				p.H130H		Atlas-SNP	.											TTLL12,NS,carcinoma,0,1	TTLL12	50	1	0			c.C390T						scavenged	.	G		1081,3325	377.5+/-322.5	126,829,1248	47	42	44		390	-10.7	0.4	22	dbSNP_96	44	3465,5131	494.2+/-373.8	718,2029,1551	no	coding-synonymous	TTLL12	NM_015140.3		844,2858,2799	AA,AG,GG		40.3094,24.5347,34.9639		130/645	43576904	4546,8456	2203	4298	6501	SO:0001819	synonymous_variant	23170	exon3			GCGCGCGTGCTCC	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.390C>T	22.37:g.43576904G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	67	2	0.0298507	NM_015140	Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																			A|0.339;C|0.000;G|0.661	0.339	strong		0.662	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		A	43576904	G	A	43576904	2	1	12	1	0	0	0	0	0	0	0	1	16722	1136	40	1		1	TTLL12	22	43576904	Silent	SNP	G	TCGA-FF-8043-01A-11D-2210-10	2271762	43576904	7727662	297	3061										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1585400	1585400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	caccgcgatcgccgggttccGcagcatctgcagcgtcgcgt	13	16	1	0			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chrX:1585400G>A	ENST00000381297.4	-	2	262	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGGGTTCCGCAGCATCTGC	0.697			T	CRLF2	"B-ALL, Downs associated ALL"																																p.R18W		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.C52T						PASS	.						32	37	36					X																	1585400		2203	4294	6497	SO:0001583	missense	286530	exon2			GGTTCCGCAGCAT	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.52C>T	X.37:g.1585400G>A	ENSP00000370697:p.Arg18Trp	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	52	44	0.846154	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	7.771	0.707456	0.15239	.	.	ENSG00000182162	ENST00000381297	T	0.37752	1.18	1.87	-1.37	0.09056	.	1.062470	0.07489	U	0.905207	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.46629	0.522	T	0.25502	-1.0130	10	0.66056	D	0.02	.	5.9234	0.19094	0.0:0.2784:0.4476:0.274	.	18	Q86VZ1	P2RY8_HUMAN	W	18	ENSP00000370697:R18W	ENSP00000370697:R18W	R	-	1	2	P2RY8	1545400	0.008000	0.16893	0.082000	0.20525	0.013000	0.08279	0.872000	0.28037	0.473000	0.27368	0.279000	0.19357	CGG	.	.	none		0.697	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1585400	G	A	1585400	3	1	12	1	0	0	0	0	1	0	0	0	11355	1086	38	1	1031	1	P2RY8	23	1585400	Missense_Mutation	SNP	G	TCGA-FF-8043-01A-11D-2210-10		1585400	153685160	298	3062										
FAM47C	442444	hgsc.bcm.edu	37	chrX	37028314	37028314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	cccatctctgcccggagcctCcagagactcgcgtatctcat	8	17	2	1			TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chrX:37028314C>T	ENST00000358047.3	+	1	1883	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	611										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCGGAGCCTCCAGAGACTCG	0.647																																					p.P611S		Atlas-SNP	.											.	FAM47C	267	.	0			c.C1831T						PASS	.						22	25	24					X																	37028314		2186	4274	6460	SO:0001583	missense	442444	exon1			GAGCCTCCAGAGA	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1831C>T	X.37:g.37028314C>T	ENSP00000367913:p.Pro611Ser	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	227	94	0.414097	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	12.85	2.061132	0.36373	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	1.02	0.0439	0.14224	.	.	.	.	.	T	0.22898	0.0553	M	0.80183	2.485	0.09310	N	1	P	0.50710	0.938	B	0.41202	0.35	T	0.15009	-1.0452	9	0.42905	T	0.14	.	5.3242	0.15896	0.0:0.7636:0.0:0.2364	.	611	Q5HY64	FA47C_HUMAN	S	611	ENSP00000367913:P611S	ENSP00000367913:P611S	P	+	1	0	FAM47C	36938235	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.449000	0.21744	-0.043000	0.13513	-0.457000	0.05445	CCA	.	.	none		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028314	C	T	37028314	3	4	12	1	0	0	0	0	1	0	0	0	5571	855	30	2	1833	2	FAM47C	23	37028314	Missense_Mutation	SNP	C	TCGA-FF-8043-01A-11D-2210-10	35442914	37028314	118242246	299	3063										
BMP15	9210	hgsc.bcm.edu	37	chrX	50659280	50659280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0578231292517007	17	1	0.760207788433595	1.84834834834835	0.70487860742098	6.86062977497906e-05	0.000468809701290236	0	gcctcttcctcaaaacatagCgggcctgaaaataaccagtg	8	12	2	1	rs17003221	byFrequency	TCGA-FF-8043-01A-11D-2210-10	TCGA-FF-8043-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e89e9c69-ffcd-4a4c-818d-1dee43ddc76a	dfa74511-2a52-4bd5-88f2-dad8c7450be4	g.chrX:50659280C>T	ENST00000252677.3	+	2	852	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	284					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAAAACATAGCGGGCCTGAAA	0.527													t|||	694	0.183841	0.3918	0.0591	3775	,	,		11819	0.0615		0.003	False		,,,				2504	0.0716				p.S284S		Atlas-SNP	.											.	BMP15	62	.	0			c.C852T						PASS	.	T		1730,2105		341,793,255,498,316	90	77	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	852	-2.8	0	X	dbSNP_123	81	37,6690		0,30,7,2398,1864	no	coding-synonymous	BMP15	NM_005448.2		341,823,262,2896,2180	TT,TC,T,CC,C		0.55,45.1108,16.7298		284/393	50659280	1767,8795	2203	4299	6502	SO:0001819	synonymous_variant	9210	exon2			ACATAGCGGGCCT	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.852C>T	X.37:g.50659280C>T		Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	201	168	0.835821	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	CCDS14334.1																																																																																			C|0.811;0|0.015	.	strong		0.527	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50659280	C	T	50659280	2	4	12	1	0	0	0	0	0	0	0	1	1458	767	27	1		1	BMP15	23	50659280	Silent	SNP	C	TCGA-FF-8043-01A-11D-2210-10	13630966	50659280	104611280	300	3064										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907275	12907275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atgtgcttaagagtcatcctGgccattggtgctgtctctgt	11	9	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:12907275G>C	ENST00000317869.6	-	2	1093	c.868C>G	c.(868-870)Cag>Gag	p.Q290E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	290						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAGTCATCCTGGCCATTGGTG	0.443																																					p.Q290E		Atlas-SNP	.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	1	0			c.C868G						scavenged	.						125	135	132					1																	12907275		2203	4299	6502	SO:0001583	missense	343069	exon2			CATCCTGGCCATT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.868C>G	1.37:g.12907275G>C	ENSP00000365370:p.Gln290Glu	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	169	5	0.0295858	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.135616	0.00001	.	.	ENSG00000179172	ENST00000317869	T	0.07216	3.21	1.09	-2.18	0.07037	.	0.420350	0.20880	N	0.084017	T	0.01353	0.0044	N	0.00583	-1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	.	2.6632	0.05032	0.0:0.3331:0.2756:0.3913	.	290	O60812	HNRCL_HUMAN	E	290	ENSP00000365370:Q290E	ENSP00000365370:Q290E	Q	-	1	0	HNRNPCL1	12829862	0.994000	0.37717	0.016000	0.15963	0.063000	0.16089	-0.019000	0.12546	-1.068000	0.03156	-0.786000	0.03341	CAG	.	.	none		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907275	G	C	12907275	3	2	13	1	0	0	0	0	1	0	0	0	7263	1357	47	4	15	4	HNRNPCL1	1	12907275	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10		12907275	236343346	1	3065										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	199	7	0.0351759		WXS	Illumina HiSeq	Phase_I	198	6	0.030303	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	13	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	433	12907708	236342913	2	3066										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921137	12921137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcaacctattagaagaggacTtgaagtgtctctcccagttc	9	10	1	3	rs17039283	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:12921137T>A	ENST00000240189.2	+	4	1015	c.928T>A	c.(928-930)Ttg>Atg	p.L310M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	310			L -> M (in dbSNP:rs17039283).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGACTTGAAGTGTCT	0.493																																					p.L310M		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	0			c.T928A						scavenged	.						132	134	133					1																	12921137		2202	4297	6499	SO:0001583	missense	65122	exon4			GAGGACTTGAAGT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.928T>A	1.37:g.12921137T>A	ENSP00000240189:p.Leu310Met	Somatic	198	1	0.00505051		WXS	Illumina HiSeq	Phase_I	180	8	0.0444444	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	2.970	-0.212708	0.06140	.	.	ENSG00000120952	ENST00000240189	T	0.01076	5.37	0.824	-1.65	0.08291	.	0.471727	0.17963	N	0.156117	T	0.00936	0.0031	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.21360	0.034	T	0.44742	-0.9308	10	0.38643	T	0.18	.	5.2047	0.15285	0.0:0.0:0.2907:0.7093	rs17039283	310	O60811	PRAM2_HUMAN	M	310	ENSP00000240189:L310M	ENSP00000240189:L310M	L	+	1	2	PRAMEF2	12843724	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	-0.072000	0.11486	-1.430000	0.01985	-1.205000	0.01647	TTG	T|1.000;|0.000	.	weak		0.493	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12921137	T	A	12921137	3	1	13	1	0	0	0	0	1	0	0	0	12435	1606	56	5	938	5	PRAMEF2	1	12921137	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	13429	12921137	236329484	3	3067										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921277	12921277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tctctcgagaccctcgtgttAgagggctgtcagatccacta	10	12	2	3	rs3204826	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:12921277A>G	ENST00000240189.2	+	4	1155	c.1068A>G	c.(1066-1068)ttA>ttG	p.L356L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	356					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L356F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTGTTAGAGGGCTGTC	0.542													.|||	93	0.0185703	0.0091	0.0115	5008	,	,		23369	0.0437		0.008	False		,,,				2504	0.0215				p.L356L		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	prostate(1)	c.A1068G						scavenged	.						161	158	159					1																	12921277		2201	4291	6492	SO:0001819	synonymous_variant	65122	exon4			CGTGTTAGAGGGC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1068A>G	1.37:g.12921277A>G		Somatic	348	5	0.0143678		WXS	Illumina HiSeq	Phase_I	373	12	0.0321716	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			A|0.996;G|0.004	0.004	strong		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921277	A	G	12921277	2	3	13	1	0	0	0	0	0	0	0	1	12435	417	15	3		3	PRAMEF2	1	12921277	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	140	12921277	236329344	4	3068										
CELA3A	10136	hgsc.bcm.edu	37	chr1	22333419	22333419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgcagcgcccagctgggagaTgccgtccagctcgcctcact	12	17	1	1	rs138658162	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:22333419T>C	ENST00000290122.3	+	5	430	c.411T>C	c.(409-411)gaT>gaC	p.D137D		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCTGGGAGATGCCGTCCAGC	0.637													C|||	16	0.00319489	0.0098	0.0029	5008	,	,		17200	0.0		0.001	False		,,,				2504	0.0				p.D137D		Atlas-SNP	.											CELA3A,NS,carcinoma,0,1	CELA3A	35	1	0			c.T411C						scavenged	.						115	101	106					1																	22333419		2198	4300	6498	SO:0001819	synonymous_variant	10136	exon5			GGGAGATGCCGTC	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.411T>C	1.37:g.22333419T>C		Somatic	416	9	0.0216346		WXS	Illumina HiSeq	Phase_I	440	25	0.0568182	NM_005747	B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	CCDS220.1																																																																																			T|0.991;C|0.009	0.009	strong		0.637	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		C	22333419	T	C	22333419	2	2	13	1	0	0	0	0	0	0	0	1	3213	1461	51	2		2	CELA3A	1	22333419	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	9412142	22333419	226917202	5	3069										
ID3	3399	hgsc.bcm.edu	37	chr1	23885690	23885690	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	actacctgcaggtcgagaatGtagtcgatgacgcgctgtag	13	9	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:23885690G>T	ENST00000374561.5	-	1	595	c.228C>A	c.(226-228)taC>taA	p.Y76*	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	76	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGTCGAGAATGTAGTCGATGA	0.622																																					p.Y76X		Atlas-SNP	.											ID3,NS,lymphoid_neoplasm,-1,1	ID3	29	1	0			c.C228A						PASS	.						58	64	62					1																	23885690		2203	4300	6503	SO:0001587	stop_gained	3399	exon1			GAGAATGTAGTCG	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"Basic helix-loop-helix proteins"	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.228C>A	1.37:g.23885690G>T	ENSP00000363689:p.Tyr76*	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	111	70	0.630631	NM_002167	A8K1T8|O75641	Nonsense_Mutation	SNP	ENST00000374561.5	37	CCDS237.1	.	.	.	.	.	.	.	.	.	.	G	39	7.592021	0.98378	.	.	ENSG00000117318	ENST00000374561	.	.	.	5.6	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6025	10.9515	0.47332	0.1528:0.0:0.8472:0.0	.	.	.	.	X	76	.	ENSP00000363689:Y76X	Y	-	3	2	ID3	23758277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.456000	0.53000	0.736000	0.32559	0.591000	0.81541	TAC	.	.	none		0.622	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		T	23885690	G	T	23885690	4	4	13	1	0	0	0	0	0	1	0	0	7491	1372	48	4	139	4	ID3	1	23885690	Nonsense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1552271	23885690	225364931	6	3070										
CYP4A11	1579	hgsc.bcm.edu	37	chr1	47395874	47395874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gatttcaacacaagtcgtgcAatggggatggggatcctggt	14	7	1	0	rs148507594	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:47395874A>C	ENST00000310638.4	-	12	1504	c.1473T>G	c.(1471-1473)atT>atG	p.I491M	CYP4A11_ENST00000462347.1_Missense_Mutation_p.I393M|CYP4A11_ENST00000371904.4_Missense_Mutation_p.I492M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	491					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.I491M(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAAGTCGTGCAATGGGGATGG	0.562													N|||	7	0.00139776	0.0015	0.0	5008	,	,		21860	0.0		0.001	False		,,,				2504	0.0041				p.I491M		Atlas-SNP	.											CYP4A11,NS,carcinoma,0,1	CYP4A11	77	1	1	Substitution - Missense(1)	endometrium(1)	c.T1473G						scavenged	.						124	109	114					1																	47395874		2203	4300	6503	SO:0001583	missense	1579	exon12			TCGTGCAATGGGG	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1473T>G	1.37:g.47395874A>C	ENSP00000311095:p.Ile491Met	Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	274	3	0.0109489	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	A	5.139	0.211298	0.09757	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70164	-0.46;-0.46	4.41	-8.82	0.00810	.	1.064920	0.07281	N	0.870735	T	0.37237	0.0996	N	0.17564	0.495	0.09310	N	1	B	0.09022	0.002	B	0.23018	0.043	T	0.24799	-1.0150	10	0.13108	T	0.6	.	2.0606	0.03591	0.2182:0.3451:0.2706:0.166	.	491	Q02928	CP4AB_HUMAN	M	491;492	ENSP00000311095:I491M;ENSP00000360971:I492M	ENSP00000311095:I491M	I	-	3	3	CYP4A11	47168461	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.724000	0.00809	-2.209000	0.00739	-1.524000	0.00929	ATT	.	.	weak		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47395874	A	C	47395874	3	2	13	1	0	0	0	0	1	0	0	0	4183	126	5	5	90	5	CYP4A11	1	47395874	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	23510184	47395874	201854747	7	3071										
ALG6	29929	hgsc.bcm.edu	37	chr1	63867944	63867944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggtattttaacagcagtgatAacaatttacagtattgggga	10	4	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:63867944A>G	ENST00000371108.4	+	4	492	c.187A>G	c.(187-189)Aac>Gac	p.N63D	ALG6_ENST00000263440.4_Missense_Mutation_p.N63D	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	63					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGCAGTGATAACAATTTACA	0.318																																					p.N63D		Atlas-SNP	.											.	ALG6	33	.	0			c.A187G						PASS	.						109	109	109					1																	63867944		2203	4299	6502	SO:0001583	missense	29929	exon4			AGTGATAACAATT	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.187A>G	1.37:g.63867944A>G	ENSP00000360149:p.Asn63Asp	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_013339	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	a	26.4	4.734192	0.89482	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.83837	-1.77;-1.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.90515	0.7028	M	0.91406	3.205	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.90800	0.4693	10	0.36615	T	0.2	-20.3602	14.4035	0.67065	1.0:0.0:0.0:0.0	.	63	A2A2G4	.	D	63	ENSP00000360149:N63D;ENSP00000263440:N63D	ENSP00000263440:N63D	N	+	1	0	ALG6	63640532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.928000	0.92853	1.806000	0.52798	0.455000	0.32223	AAC	.	.	none		0.318	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		G	63867944	A	G	63867944	3	3	13	1	0	0	0	0	1	0	0	0	522	362	13	2	197	2	ALG6	1	63867944	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	16472070	63867944	185382677	8	3072										
RBMXL1	494115	hgsc.bcm.edu	37	chr1	89448539	89448539	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggctgcttgagtaactgtctCgacttccaccatatccatca	7	13	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:89448539C>G	ENST00000321792.5	-	2	1398	c.971G>C	c.(970-972)cGa>cCa	p.R324P	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'Flank|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R324P	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	324	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTAACTGTCTCGACTTCCACC	0.517																																					p.R324P		Atlas-SNP	.											CCBL2,NS,carcinoma,-1,1	.	.	1	0			c.G971C						scavenged	.						185	184	184					1																	89448539		2203	4300	6503	SO:0001583	missense	494115	exon3			CTGTCTCGACTTC	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.971G>C	1.37:g.89448539C>G	ENSP00000318415:p.Arg324Pro	Somatic	327	6	0.0183486		WXS	Illumina HiSeq	Phase_I	350	10	0.0285714	NM_001162536		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844738	0.51164	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77358	-1.09;-1.09	1.89	0.895	0.19247	.	0.070349	0.64402	D	0.000016	T	0.62925	0.2468	M	0.65498	2.005	0.33162	D	0.547093	D	0.55172	0.97	P	0.46796	0.527	T	0.60667	-0.7218	10	0.52906	T	0.07	-3.2327	6.12	0.20148	0.0:0.8158:0.0:0.1842	.	324	Q96E39	RBMXL_HUMAN	P	324	ENSP00000318415:R324P;ENSP00000446099:R324P	ENSP00000318415:R324P	R	-	2	0	RBMXL1	89221127	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	4.995000	0.63908	0.128000	0.18479	0.306000	0.20318	CGA	.	.	none		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448539	C	G	89448539	3	3	13	1	0	0	0	0	1	0	0	0	13153	884	31	4	205	4	RBMXL1	1	89448539	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	25580595	89448539	159802082	9	3073										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103491838	103491838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acactttcagcctctttataCtctgcttccccatactcata	2	15	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:103491838C>T	ENST00000370096.3	-	6	1143	c.831G>A	c.(829-831)gaG>gaA	p.E277E	COL11A1_ENST00000512756.1_Silent_p.E277E|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	277	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTCTTTATACTCTGCTTCCC	0.418																																					p.E277E		Atlas-SNP	.											COL11A1_ENST00000370096,NS,carcinoma,-2,1	COL11A1	972	1	0			c.G831A						scavenged	.						238	208	218					1																	103491838		2203	4300	6503	SO:0001819	synonymous_variant	1301	exon6			TTTATACTCTGCT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.831G>A	1.37:g.103491838C>T		Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	374	4	0.0106952	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.	.	none		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103491838	C	T	103491838	2	4	13	1	0	0	0	0	0	0	0	1	3667	564	20	2		2	COL11A1	1	103491838	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	14043299	103491838	145758783	10	3074										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117158772	117158772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgggtgtgtggcattcataCtccccggcatcccgggcctg	13	14	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:117158772C>T	ENST00000369486.3	-	3	1116	c.351G>A	c.(349-351)gaG>gaA	p.E117E	IGSF3_ENST00000318837.6_Silent_p.E117E|IGSF3_ENST00000369483.1_Silent_p.E117E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	117	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E117E(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCATTCATACTCCCCGGCAT	0.527																																					p.E117E		Atlas-SNP	.											IGSF3_ENST00000369483,NS,carcinoma,0,2	IGSF3	294	2	2	Substitution - coding silent(2)	endometrium(2)	c.G351A						scavenged	.						56	51	53					1																	117158772		2203	4300	6503	SO:0001819	synonymous_variant	3321	exon3			TTCATACTCCCCG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.351G>A	1.37:g.117158772C>T		Somatic	373	3	0.0080429		WXS	Illumina HiSeq	Phase_I	357	10	0.0280112	NM_001542	A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																			.	.	none		0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117158772	C	T	117158772	2	4	13	1	0	0	0	0	0	0	0	1	7601	564	20	2		2	IGSF3	1	117158772	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	13666934	117158772	132091849	11	3075										
ITGA10	8515	hgsc.bcm.edu	37	chr1	145528314	145528314	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tatgcacctggggatgtctcTgttagagacagatggtgatg	14	6	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:145528314T>A	ENST00000369304.3	+	4	510	c.335T>A	c.(334-336)cTg>cAg	p.L112Q	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	112					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGATGTCTCTGTTAGAGACA	0.483																																					p.L112Q		Atlas-SNP	.											.	ITGA10	131	.	0			c.T335A						PASS	.						101	99	99					1																	145528314		2203	4300	6503	SO:0001583	missense	8515	exon4			TGTCTCTGTTAGA	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.335T>A	1.37:g.145528314T>A	ENSP00000358310:p.Leu112Gln	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	235	63	0.268085	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062469	0.76187	.	.	ENSG00000143127	ENST00000369304;ENST00000543043	T	0.72835	-0.69	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000028	T	0.80396	0.4615	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.998	D	0.83917	0.0299	10	0.87932	D	0	.	11.9274	0.52827	0.0:0.0:0.0:1.0	.	78;112;112	F5H3T9;O75578;O75578-2	.;ITA10_HUMAN;.	Q	112;78	ENSP00000358310:L112Q	ENSP00000358310:L112Q	L	+	2	0	ITGA10	144239671	0.940000	0.31905	0.900000	0.35374	0.992000	0.81027	4.296000	0.59055	2.070000	0.61991	0.459000	0.35465	CTG	.	.	none		0.483	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145528314	T	A	145528314	3	1	13	1	0	0	0	0	1	0	0	0	7873	1580	55	5	349	5	ITGA10	1	145528314	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	28369542	145528314	103722307	12	3076										
ECM1	1893	hgsc.bcm.edu	37	chr1	150483581	150483581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agctactcccacctcactcgCcagggtgagaccctcaattt	7	16	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:150483581C>T	ENST00000369047.4	+	6	740	c.615C>T	c.(613-615)cgC>cgT	p.R205R	ECM1_ENST00000369049.4_Silent_p.R232R|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.R205R	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	205	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACCTCACTCGCCAGGGTGAGA	0.537																																					p.R232R	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											ECM1_ENST00000369049,colon,carcinoma,+1,2	ECM1	96	2	0			c.C696T						scavenged	.						133	135	134					1																	150483581		2203	4300	6503	SO:0001819	synonymous_variant	1893	exon6			CACTCGCCAGGGT	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.615C>T	1.37:g.150483581C>T		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	CCDS953.1																																																																																			.	.	none		0.537	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		T	150483581	C	T	150483581	2	4	13	1	0	0	0	0	0	0	0	1	4897	726	26	2		2	ECM1	1	150483581	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	4955267	150483581	98767040	13	3077										
FLG	2312	hgsc.bcm.edu	37	chr1	152286033	152286033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tggctctgctgtctcagcccAgcctttccgtggcctgacac	10	16	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:152286033A>G	ENST00000368799.1	-	3	1364	c.1329T>C	c.(1327-1329)gcT>gcC	p.A443A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	443	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCAGCCCAGCCTTTCCGT	0.587									Ichthyosis																												p.A443A		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.T1329C						scavenged	.						202	197	199					1																	152286033		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CAGCCCAGCCTTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1329T>C	1.37:g.152286033A>G		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	323	7	0.0216718	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	none		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152286033	A	G	152286033	2	3	13	1	0	0	0	0	0	0	0	1	5922	175	7	3		3	FLG	1	152286033	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	1802452	152286033	96964588	14	3078										
SPRR2D	6703	hgsc.bcm.edu	37	chr1	153012612	153012612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atcctgaagctgttacttgcTcttgggtggacactttggct	11	9	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:153012612T>C	ENST00000368757.1	-	2	491	c.211A>G	c.(211-213)Agc>Ggc	p.S71G	SPRR2D_ENST00000360379.3_Missense_Mutation_p.S71G|SPRR2D_ENST00000368756.1_Missense_Mutation_p.S71G|SPRR2D_ENST00000368758.3_Missense_Mutation_p.S71G			P22532	SPR2D_HUMAN	small proline-rich protein 2D	71					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTACTTGCTCTTGGGTGGA	0.527																																					p.S71G		Atlas-SNP	.											SPRR2D,colon,carcinoma,+1,1	SPRR2D	9	1	0			c.A211G						scavenged	.						237	222	227					1																	153012612		2203	4299	6502	SO:0001583	missense	6703	exon2			ACTTGCTCTTGGG	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.211A>G	1.37:g.153012612T>C	ENSP00000357746:p.Ser71Gly	Somatic	450	0	0		WXS	Illumina HiSeq	Phase_I	509	6	0.0117878	NM_006945	A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	37	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	T	8.832	0.940118	0.18281	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.05	1.54	0.23209	.	0.171847	0.28307	N	0.015830	T	0.10981	0.0268	.	.	.	0.20926	N	0.999823	B	0.21606	0.058	B	0.22601	0.04	T	0.24548	-1.0157	9	0.87932	D	0	.	6.7099	0.23272	0.3809:0.0:0.0:0.6191	.	71	P22532	SPR2D_HUMAN	G	71	ENSP00000353542:S71G;ENSP00000357747:S71G;ENSP00000357746:S71G;ENSP00000357745:S71G	ENSP00000353542:S71G	S	-	1	0	SPRR2D	151279236	0.983000	0.35010	0.991000	0.47740	0.775000	0.43874	0.805000	0.27112	0.076000	0.16826	0.369000	0.22263	AGC	.	.	none		0.527	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			C	153012612	T	C	153012612	3	2	13	1	0	0	0	0	1	0	0	0	15098	1551	54	3	11	3	SPRR2D	1	153012612	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	726579	153012612	96238009	15	3079										
ARHGEF11	9826	hgsc.bcm.edu	37	chr1	156941496	156941496	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctacatcactcaccactgagCcaccagtctcctgctggatc	6	17	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:156941496C>A	ENST00000361409.2	-	8	1325				ARHGEF11_ENST00000368194.3_Missense_Mutation_p.G232V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCACTGAGCCACCAGTCTC	0.557																																					p.G232V		Atlas-SNP	.											.	ARHGEF11	168	.	0			c.G695T						PASS	.						98	91	93					1																	156941496		2203	4300	6503	SO:0001627	intron_variant	9826	exon8			ACTGAGCCACCAG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.583-1661G>T	1.37:g.156941496C>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	17	0.278689	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829147	0.50845	.	.	ENSG00000132694	ENST00000368194	T	0.65732	-0.17	5.46	4.54	0.55810	.	0.203312	0.34828	N	0.003657	T	0.41351	0.1155	.	.	.	0.80722	D	1	B	0.17268	0.021	B	0.18263	0.021	T	0.42783	-0.9431	9	0.45353	T	0.12	-21.6118	15.2508	0.73545	0.0:0.8587:0.1413:0.0	.	232	O15085-2	.	V	232	ENSP00000357177:G232V	ENSP00000357177:G232V	G	-	2	0	ARHGEF11	155208120	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.332000	0.43903	1.517000	0.48917	0.655000	0.94253	GGC	.	.	none		0.557	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156941496	C	A	156941496	1	1	13	0	1	0	0	0	0	0	0	0	896	739	26	4		4	ARHGEF11	1	156941496	Intron	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3928884	156941496	92309125	16	3080										
FCRL3	115352	hgsc.bcm.edu	37	chr1	157668297	157668297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caacaacttctcatcgtgatAccaatatgtgtctccctggg	7	12	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:157668297A>G	ENST00000368184.3	-	4	466	c.175T>C	c.(175-177)Tat>Cat	p.Y59H	FCRL3_ENST00000368186.5_Missense_Mutation_p.Y59H|FCRL3_ENST00000473231.1_5'Flank|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	59	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCATCGTGATACCAATATGTG	0.448																																					p.Y59H		Atlas-SNP	.											FCRL3,NS,carcinoma,+2,1	FCRL3	163	1	0			c.T175C						scavenged	.						197	173	181					1																	157668297		2203	4300	6503	SO:0001583	missense	115352	exon4			CGTGATACCAATA	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.175T>C	1.37:g.157668297A>G	ENSP00000357167:p.Tyr59His	Somatic	316	1	0.00316456		WXS	Illumina HiSeq	Phase_I	340	6	0.0176471	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885486	0.33255	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.14766	2.48;2.48	5.46	5.46	0.80206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465641	0.15981	N	0.235294	T	0.30479	0.0766	M	0.84511	2.7	0.29037	N	0.885311	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.24621	-1.0155	10	0.62326	D	0.03	.	13.4854	0.61361	1.0:0.0:0.0:0.0	.	59;59	Q96P31;Q96P31-6	FCRL3_HUMAN;.	H	59	ENSP00000357169:Y59H;ENSP00000357167:Y59H	ENSP00000292392:Y59H	Y	-	1	0	FCRL3	155934921	0.983000	0.35010	0.960000	0.40013	0.020000	0.10135	2.740000	0.47418	2.064000	0.61679	0.482000	0.46254	TAT	.	.	none		0.448	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		G	157668297	A	G	157668297	3	3	13	1	0	0	0	0	1	0	0	0	5796	391	14	2	2077	2	FCRL3	1	157668297	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	726801	157668297	91582324	17	3081										
PRG4	10216	hgsc.bcm.edu	37	chr1	186277188	186277188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cctgctccaactacccctaaGgggactgctccaactaccct	6	18	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:186277188G>A	ENST00000445192.2	+	7	2382	c.2337G>A	c.(2335-2337)aaG>aaA	p.K779K	PRG4_ENST00000367485.4_Silent_p.K686K|PRG4_ENST00000367483.4_Silent_p.K738K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K736K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	779	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAGGGGACTGCTC	0.602																																					p.K779K		Atlas-SNP	.											PRG4,NS,carcinoma,0,1	PRG4	259	1	0			c.G2337A						scavenged	.						172	195	187					1																	186277188		2203	4299	6502	SO:0001819	synonymous_variant	10216	exon7			CCCTAAGGGGACT	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2337G>A	1.37:g.186277188G>A		Somatic	175	2	0.0114286		WXS	Illumina HiSeq	Phase_I	193	4	0.0207254	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																			.	.	none		0.602	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		A	186277188	G	A	186277188	2	1	13	1	0	0	0	0	0	0	0	1	12481	991	35	2		2	PRG4	1	186277188	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	28608891	186277188	62973433	18	3082										
C1orf27	54953	hgsc.bcm.edu	37	chr1	186357578	186357578	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tttttctctctttcagctaaTgtttgctgtggaaaagtcta	7	7	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:186357578T>A	ENST00000287859.6	+	5	460	c.335T>A	c.(334-336)aTg>aAg	p.M112K	C1orf27_ENST00000367470.3_Missense_Mutation_p.M112K|C1orf27_ENST00000419367.3_Missense_Mutation_p.M80K|C1orf27_ENST00000432021.3_Missense_Mutation_p.M112K	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	112						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTTCAGCTAATGTTTGCTGTG	0.333																																					p.M112K		Atlas-SNP	.											C1orf27_ENST00000287859,NS,carcinoma,-1,2	C1orf27	41	2	0			c.T335A						PASS	.						32	31	31					1																	186357578		1807	4068	5875	SO:0001583	missense	54953	exon5			AGCTAATGTTTGC	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.335T>A	1.37:g.186357578T>A	ENSP00000287859:p.Met112Lys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	120	38	0.316667	NM_001164245	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717373	0.30413	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T;T	0.42900	1.03;0.96;1.03;1.03	5.3	4.15	0.48705	.	0.545614	0.20190	N	0.097330	T	0.26122	0.0637	N	0.08118	0	0.28249	N	0.925366	B;B;B	0.20459	0.045;0.014;0.014	B;B;B	0.24848	0.056;0.006;0.006	T	0.22906	-1.0203	10	0.66056	D	0.02	-17.5983	12.025	0.53365	0.0:0.0:0.1449:0.8551	.	80;112;112	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	K	112;80;112;112	ENSP00000356440:M112K;ENSP00000395084:M80K;ENSP00000402029:M112K;ENSP00000287859:M112K	ENSP00000287859:M112K	M	+	2	0	C1orf27	184624201	0.988000	0.35896	0.998000	0.56505	0.369000	0.29798	6.000000	0.70678	0.817000	0.34445	0.460000	0.39030	ATG	.	.	none		0.333	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		A	186357578	T	A	186357578	3	1	13	1	0	0	0	0	1	0	0	0	2036	1464	51	5	349	5	C1orf27	1	186357578	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	80390	186357578	62893043	19	3083										
GPR37L1	9283	hgsc.bcm.edu	37	chr1	202097123	202097123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aaaccctcagccagcctgccCgagtccctgtattcactggt	8	16	2	0	rs144820477		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:202097123C>T	ENST00000367282.5	+	2	991	c.885C>T	c.(883-885)ccC>ccT	p.P295P		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	295					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P295P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAGCCTGCCCGAGTCCCTGT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19887	0.0		0.0	False		,,,				2504	0.0				p.P295P		Atlas-SNP	.											GPR37L1,NS,carcinoma,0,1	GPR37L1	33	1	1	Substitution - coding silent(1)	endometrium(1)	c.C885T						scavenged	.						66	60	62					1																	202097123		2203	4300	6503	SO:0001819	synonymous_variant	9283	exon2			CCTGCCCGAGTCC	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.885C>T	1.37:g.202097123C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	147	3	0.0204082	NM_004767	B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	ENST00000367282.5	37	CCDS1420.1																																																																																			C|1.000;G|0.000	.	alt		0.607	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		T	202097123	C	T	202097123	2	4	13	1	0	0	0	0	0	0	0	1	6692	639	23	1		1	GPR37L1	1	202097123	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	15739545	202097123	47153498	20	3084										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186088	203186088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcagctttgctggaacagccGccccgctgcacagctgtaga	12	14	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:203186088G>A	ENST00000367229.1	-	11	1364	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	CHIT1_ENST00000255427.3_Missense_Mutation_p.R425W|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.R435W	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	444	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGAACAGCCGCCCCGCTGCA	0.597											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R444W		Atlas-SNP	.											CHIT1,NS,carcinoma,+2,1	CHIT1	61	1	0			c.C1330T						PASS	.						87	92	90					1																	203186088		2203	4300	6503	SO:0001583	missense	1118	exon11			ACAGCCGCCCCGC	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1330C>T	1.37:g.203186088G>A	ENSP00000356198:p.Arg444Trp	Somatic	55	0	0	2135	WXS	Illumina HiSeq	Phase_I	54	11	0.203704	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903086	0.52227	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.32272	1.46;1.46;1.46	4.81	0.807	0.18714	Chitin binding domain (5);	0.540328	0.15465	N	0.260936	T	0.42040	0.1185	M	0.72624	2.21	0.09310	N	1	B;D;B	0.76494	0.01;0.999;0.031	B;P;B	0.61800	0.003;0.894;0.007	T	0.21861	-1.0233	10	0.37606	T	0.19	-4.997	3.3947	0.07302	0.2568:0.0:0.4399:0.3033	.	415;435;444	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	W	444;425;435	ENSP00000356198:R444W;ENSP00000255427:R425W;ENSP00000438078:R435W	ENSP00000255427:R425W	R	-	1	2	CHIT1	201452711	0.000000	0.05858	0.043000	0.18650	0.768000	0.43524	-0.593000	0.05740	-0.110000	0.12022	0.650000	0.86243	CGG	.	.	none		0.597	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		A	203186088	G	A	203186088	3	1	13	1	0	0	0	0	1	0	0	0	3346	1086	38	1	74	1	CHIT1	1	203186088	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1088965	203186088	46064533	21	3085										
TMCC2	9911	hgsc.bcm.edu	37	chr1	205238355	205238355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttcgagaagaagaaccagaAgtcagcccagaccatcgccc	10	13	1	5			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:205238355A>G	ENST00000358024.3	+	3	1414	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	TMCC2_ENST00000329800.7_Missense_Mutation_p.K102R|TMCC2_ENST00000545499.1_Missense_Mutation_p.K264R|TMCC2_ENST00000330675.7_Missense_Mutation_p.K117R|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	342						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACCAGAAGTCAGCCCAG	0.592																																					p.K342R		Atlas-SNP	.											.	TMCC2	89	.	0			c.A1025G						PASS	.						57	46	50					1																	205238355		2203	4300	6503	SO:0001583	missense	9911	exon3			ACCAGAAGTCAGC	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1025A>G	1.37:g.205238355A>G	ENSP00000350718:p.Lys342Arg	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_014858	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746863	0.89663	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.59912	1.85	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.972	D;D;D;D	0.87578	0.998;0.997;0.998;0.946	T	0.62609	-0.6818	10	0.35671	T	0.21	.	15.5977	0.76599	1.0:0.0:0.0:0.0	.	138;102;117;342	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	R	342;264;146;117;102	ENSP00000350718:K342R;ENSP00000437943:K264R;ENSP00000356127:K146R;ENSP00000331842:K117R;ENSP00000329436:K102R	ENSP00000329436:K102R	K	+	2	0	TMCC2	203504978	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	2.170000	0.68504	0.379000	0.24179	AAG	.	.	none		0.592	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		G	205238355	A	G	205238355	3	3	13	1	0	0	0	0	1	0	0	0	15990	72	3	3	1035	3	TMCC2	1	205238355	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	2052267	205238355	44012266	22	3086										
YOD1	55432	hgsc.bcm.edu	37	chr1	207222394	207222394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tccaaagttggtatggcctgTctccttggcatgttcccttg	10	11	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:207222394T>C	ENST00000315927.4	-	2	1064	c.1018A>G	c.(1018-1020)Aca>Gca	p.T340A	YOD1_ENST00000367084.1_Missense_Mutation_p.T296A|YOD1_ENST00000391927.1_Missense_Mutation_p.T296A|PFKFB2_ENST00000411990.2_5'Flank	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	340					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GTATGGCCTGTCTCCTTGGCA	0.468																																					p.T340A		Atlas-SNP	.											YOD1,NS,carcinoma,+2,2	YOD1	24	2	0			c.A1018G						scavenged	.						250	234	239					1																	207222394		2203	4300	6503	SO:0001583	missense	55432	exon2			GGCCTGTCTCCTT		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.1018A>G	1.37:g.207222394T>C	ENSP00000326813:p.Thr340Ala	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	180	4	0.0222222	NM_018566	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388823	0.82902	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.86037	0.5837	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.85130	0.997;0.487	D	0.89274	0.3607	9	0.87932	D	0	-14.2617	15.7467	0.77949	0.0:0.0:0.0:1.0	.	296;340	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	A	296;340;296	.	ENSP00000326813:T340A	T	-	1	0	YOD1	205289017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.917000	0.87498	2.302000	0.77476	0.533000	0.62120	ACA	.	.	none		0.468	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		C	207222394	T	C	207222394	3	2	13	1	0	0	0	0	1	0	0	0	17485	1667	58	2	32	2	YOD1	1	207222394	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	1984039	207222394	42028227	23	3087										
PFKFB2	5208	hgsc.bcm.edu	37	chr1	207242832	207242832	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acccagaagagtttgcacttCgagatcaagagaagtatctg	10	8	2	4			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:207242832C>A	ENST00000367080.3	+	11	1175	c.1051C>A	c.(1051-1053)Cga>Aga	p.R351R	PFKFB2_ENST00000545806.1_Silent_p.R318R|PFKFB2_ENST00000367079.2_Silent_p.R351R|PFKFB2_ENST00000541914.1_Silent_p.R165R|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000411990.2_Silent_p.R253R	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GTTTGCACTTCGAGATCAAGA	0.463																																					p.R351R		Atlas-SNP	.											PFKFB2_ENST00000367079,bladder,carcinoma,0,4	PFKFB2	70	4	0			c.C1051A						scavenged	.						185	161	169					1																	207242832		2203	4300	6503	SO:0001819	synonymous_variant	5208	exon11			GCACTTCGAGATC		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1051C>A	1.37:g.207242832C>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	182	2	0.010989	NM_001018053	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	CCDS31004.1																																																																																			.	.	none		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			A	207242832	C	A	207242832	2	1	13	1	0	0	0	0	0	0	0	1	11761	876	31	4		4	PFKFB2	1	207242832	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	20438	207242832	42007789	24	3088										
CNIH3	149111	hgsc.bcm.edu	37	chr1	224804946	224804946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcgctgcgctcatcttcttcGccatctggcacgtgagtaac	10	14	4	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:224804946G>T	ENST00000272133.3	+	1	952	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	RP11-100E13.1_ENST00000437416.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	24					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTTCTTCGCCATCTGGCA	0.567																																					p.A24S		Atlas-SNP	.											CNIH3,NS,carcinoma,0,1	CNIH3	23	1	0			c.G70T						scavenged	.						292	273	280					1																	224804946		2203	4300	6503	SO:0001583	missense	149111	exon1			TTCTTCGCCATCT	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.70G>T	1.37:g.224804946G>T	ENSP00000272133:p.Ala24Ser	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	206	3	0.0145631	NM_152495		Missense_Mutation	SNP	ENST00000272133.3	37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408411	0.83340	.	.	ENSG00000143786	ENST00000272133	T	0.42131	0.98	4.85	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	N	0.25789	0.76	0.58432	D	0.999998	P	0.44946	0.846	B	0.39379	0.298	T	0.02450	-1.1157	10	0.24483	T	0.36	-0.2858	11.9949	0.53196	0.0857:0.0:0.9142:0.0	.	24	Q8TBE1	CNIH3_HUMAN	S	24	ENSP00000272133:A24S	ENSP00000272133:A24S	A	+	1	0	CNIH3	222871569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	1.037000	0.40024	-0.136000	0.14681	GCC	.	.	none		0.567	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		T	224804946	G	T	224804946	3	4	13	1	0	0	0	0	1	0	0	0	3604	1087	38	4	72	4	CNIH3	1	224804946	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	17562114	224804946	24445675	25	3089										
TRIM17	51127	hgsc.bcm.edu	37	chr1	228598862	228598862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagcacaatgcgttctctccGctccttcaccttgccctgca	6	18	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:228598862G>A	ENST00000366697.2	-	3	1497	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	TRIM17_ENST00000295033.3_Missense_Mutation_p.R181W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R181W|TRIM17_ENST00000456946.2_Missense_Mutation_p.R181W|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	181					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CGTTCTCTCCGCTCCTTCACC	0.597																																					p.R181W		Atlas-SNP	.											TRIM17_ENST00000456946,colon,carcinoma,+1,2	TRIM17	66	2	0			c.C541T						scavenged	.						89	91	91					1																	228598862		2203	4300	6503	SO:0001583	missense	51127	exon4			CTCTCCGCTCCTT	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.541C>T	1.37:g.228598862G>A	ENSP00000355658:p.Arg181Trp	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	184	4	0.0217391	NM_001024940	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	g	11.06	1.527563	0.27299	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	4.08	0.902	0.19290	.	0.561882	0.13727	N	0.366935	T	0.20333	0.0489	L	0.58583	1.82	0.09310	N	0.999999	D;D	0.76494	0.998;0.999	P;P	0.61275	0.886;0.549	T	0.06180	-1.0841	10	0.59425	D	0.04	.	5.6096	0.17398	0.1021:0.0:0.5226:0.3754	.	181;181	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	W	181;181;181;181;154	ENSP00000355658:R181W;ENSP00000355659:R181W;ENSP00000295033:R181W;ENSP00000403312:R181W;ENSP00000430468:R154W	ENSP00000295033:R181W	R	-	1	2	TRIM17	226665485	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	-0.449000	0.06812	0.366000	0.24427	0.443000	0.29094	CGG	.	.	none		0.597	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		A	228598862	G	A	228598862	3	1	13	1	0	0	0	0	1	0	0	0	16490	1086	38	1	1057	1	TRIM17	1	228598862	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	3793916	228598862	20651759	26	3090										
WDR64	128025	hgsc.bcm.edu	37	chr1	241951199	241951199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgtggatattttggacagcgAaggctctttgaattatcaca	10	6	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:241951199A>G	ENST00000366552.2	+	23	2931	c.2724A>G	c.(2722-2724)cgA>cgG	p.R908R	WDR64_ENST00000437684.2_Silent_p.R741R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	908										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTGGACAGCGAAGGCTCTTTG	0.393																																					p.R908R		Atlas-SNP	.											WDR64_ENST00000366552,NS,carcinoma,+2,2	WDR64	234	2	0			c.A2724G						scavenged	.						164	161	162					1																	241951199		2203	4300	6503	SO:0001819	synonymous_variant	128025	exon23			ACAGCGAAGGCTC	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2724A>G	1.37:g.241951199A>G		Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	393	4	0.0101781	NM_144625	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	A	4.434	0.080215	0.08533	.	.	ENSG00000162843	ENST00000425826	.	.	.	5.96	3.67	0.42095	.	.	.	.	.	T	0.61578	0.2358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58787	-0.7575	4	.	.	.	-4.9848	10.8092	0.46535	0.537:0.463:0.0:0.0	.	.	.	.	G	387	.	.	E	+	2	0	WDR64	240017822	0.996000	0.38824	0.996000	0.52242	0.374000	0.29953	0.301000	0.19174	1.060000	0.40578	0.523000	0.50628	GAA	.	.	none		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		G	241951199	A	G	241951199	2	3	13	1	0	0	0	0	0	0	0	1	17312	233	9	2		2	WDR64	1	241951199	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	13352337	241951199	7299422	27	3091										
TRIM58	25893	hgsc.bcm.edu	37	chr1	248039526	248039526	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	catggtccttgcctccccatCagtgcctcttctccaactgg	7	17	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:248039526C>T	ENST00000366481.3	+	6	1244	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCTCCCCATCAGTGCCTCTT	0.502																																					p.S399L		Atlas-SNP	.											TRIM58,NS,carcinoma,0,1	TRIM58	143	1	0			c.C1196T						scavenged	.						141	144	143					1																	248039526		2203	4300	6503	SO:0001583	missense	25893	exon6			CCCCATCAGTGCC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1196C>T	1.37:g.248039526C>T	ENSP00000355437:p.Ser399Leu	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	209	3	0.0143541	NM_015431	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265163	0.10294	.	.	ENSG00000162722	ENST00000366481	T	0.68765	-0.35	4.05	3.12	0.35913	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.264625	0.27240	N	0.020271	T	0.50000	0.1590	N	0.20304	0.555	0.33930	D	0.641959	B	0.20052	0.041	B	0.32022	0.139	T	0.52245	-0.8601	10	0.11485	T	0.65	.	11.2734	0.49153	0.184:0.816:0.0:0.0	.	399	Q8NG06	TRI58_HUMAN	L	399	ENSP00000355437:S399L	ENSP00000355437:S399L	S	+	2	0	TRIM58	246106149	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.084000	0.14891	1.266000	0.44231	0.650000	0.86243	TCA	.	.	none		0.502	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039526	C	T	248039526	3	4	13	1	0	0	0	0	1	0	0	0	16528	838	29	2	1218	2	TRIM58	1	248039526	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	6088327	248039526	1211095	28	3092										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224819	248224819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tctggctgtcttctacaccaCcctcactccaatgctcaacc	4	18	5	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr1:248224819C>T	ENST00000359959.3	+	1	836	c.836C>T	c.(835-837)aCc>aTc	p.T279I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTACACCACCCTCACTCCA	0.493																																					p.T279I		Atlas-SNP	.											OR2L3,NS,carcinoma,0,1	OR2L3	97	1	0			c.C836T						scavenged	.						101	92	95					1																	248224819		2203	4300	6503	SO:0001583	missense	391192	exon1			ACACCACCCTCAC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.836C>T	1.37:g.248224819C>T	ENSP00000353044:p.Thr279Ile	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	184	7	0.0380435	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.647043	0.00111	.	.	ENSG00000198128	ENST00000359959	T	0.00042	8.84	2.01	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31821	N	0.007016	T	0.00039	0.0001	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.02654	T	1	.	6.3461	0.21351	0.0:0.2447:0.0:0.7553	.	279	Q8NG85	OR2L3_HUMAN	I	279	ENSP00000353044:T279I	ENSP00000353044:T279I	T	+	2	0	OR2L3	246291442	0.000000	0.05858	0.070000	0.20053	0.405000	0.30901	0.295000	0.19065	-0.357000	0.08175	-0.535000	0.04281	ACC	.	.	none		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224819	C	T	248224819	3	4	13	1	0	0	0	0	1	0	0	0	11008	507	18	2	838	2	OR2L3	1	248224819	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	185293	248224819	1025802	29	3093										
ACP1	52	hgsc.bcm.edu	37	chr2	277273	277273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtaccagcagtgtgtcaggtGctgcagagcgttcttggaga	15	8	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:277273G>A	ENST00000272065.5	+	6	539	c.446G>A	c.(445-447)tGc>tAc	p.C149Y	ACP1_ENST00000272067.6_Missense_Mutation_p.C149Y|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	149						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	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;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TGTGTCAGGTGCTGCAGAGCG	0.532																																					p.C149Y		Atlas-SNP	.											ACP1_ENST00000272067,colon,carcinoma,-1,2	ACP1	42	2	0			c.G446A						scavenged	.						142	135	138					2																	277273		2203	4300	6503	SO:0001583	missense	52	exon6			TCAGGTGCTGCAG	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.446G>A	2.37:g.277273G>A	ENSP00000272065:p.Cys149Tyr	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	208	4	0.0192308	NM_007099	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001526	0.74818	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.29397	1.57;1.57	5.62	5.62	0.85841	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.67517	2.055	0.80722	D	1	B;B	0.31640	0.333;0.279	B;B	0.36378	0.199;0.223	T	0.32428	-0.9907	10	0.72032	D	0.01	-12.6608	17.1625	0.86807	0.0:0.0:1.0:0.0	.	149;149	P24666-2;P24666	.;PPAC_HUMAN	Y	149	ENSP00000272067:C149Y;ENSP00000272065:C149Y	ENSP00000272065:C149Y	C	+	2	0	ACP1	267273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.899000	0.92544	2.632000	0.89209	0.655000	0.94253	TGC	.	.	none		0.532	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			A	277273	G	A	277273	3	1	13	1	0	0	0	0	1	0	0	0	162	1319	46	2	623	2	ACP1	2	277273	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10		277273	242922100	30	3094										
TPO	7173	hgsc.bcm.edu	37	chr2	1544451	1544451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gatgcggaaagcaccaggccGtagggacctcaccgcagcgg	15	13	1	0	rs368181428		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:1544451G>A	ENST00000345913.4	+	16	2795	c.2704G>A	c.(2704-2706)Gta>Ata	p.V902I	TPO_ENST00000382198.1_Missense_Mutation_p.V729I|TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	902					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.V902I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGGCCGTAGGGACCTC	0.637																																					p.V902I		Atlas-SNP	.											TPO,brainstem,primitive_neuroectodermal_tumour-medulloblastoma,0,1	TPO	224	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.G2704A						scavenged	.	A	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	77	66	70		2704,2704,2533,2533,2572,2185	-2.9	0	2		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	902/934,902/934,845/877,845/877,858/890,729/761	1544451	1,13005	2203	4300	6503	SO:0001583	missense	7173	exon16			CAGGCCGTAGGGA		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2704G>A	2.37:g.1544451G>A	ENSP00000318820:p.Val902Ile	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	71	2	0.028169	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	g	0.152	-1.090855	0.01858	0.0	1.16E-4	ENSG00000115705	ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	T;T;T;T;T;T;T;T;T	0.70164	-0.2;-0.24;0.04;-0.2;-0.16;0.04;-0.28;0.53;-0.46	1.43	-2.86	0.05717	.	2.591470	0.02479	N	0.088351	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24426	0.043;0.025;0.103;0.062	B;B;B;B	0.14578	0.011;0.003;0.011;0.005	T	0.25398	-1.0133	10	0.10377	T	0.69	-0.0765	5.9353	0.19163	0.6539:0.0:0.3461:0.0	.	858;729;845;902	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	I	902;858;729;902;845;729;787;332;123	ENSP00000318820:V902I;ENSP00000263886:V858I;ENSP00000332044:V729I;ENSP00000329869:V902I;ENSP00000371636:V845I;ENSP00000371633:V729I;ENSP00000405788:V787I;ENSP00000419461:V332I;ENSP00000389659:V123I	ENSP00000329869:V902I	V	+	1	0	TPO	1523458	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.784000	0.01769	-1.117000	0.02965	-1.801000	0.00618	GTA	.	.	weak		0.637	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1544451	G	A	1544451	3	1	13	1	0	0	0	0	1	0	0	0	16407	1145	40	1	2762	1	TPO	2	1544451	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1267178	1544451	241654922	31	3095										
PRKD3	23683	hgsc.bcm.edu	37	chr2	37513463	37513463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcttttccatccagattgggCgaccactccaagaaggaatt	8	11	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:37513463C>T	ENST00000379066.1	-	6	1529	c.767G>A	c.(766-768)cGc>cAc	p.R256H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R256H			O94806	KPCD3_HUMAN	protein kinase D3	256					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.R256H(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCAGATTGGGCGACCACTCCA	0.403																																					p.R256H	Melanoma(80;621 1355 8613 11814 51767)	Atlas-SNP	.											PRKD3_ENST00000379066,NS,carcinoma,0,2	PRKD3	170	2	2	Substitution - Missense(2)	lung(2)	c.G767A						scavenged	.						151	124	133					2																	37513463		2203	4300	6503	SO:0001583	missense	23683	exon5			ATTGGGCGACCAC	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.767G>A	2.37:g.37513463C>T	ENSP00000368356:p.Arg256His	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	132	2	0.0151515	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962866	0.92791	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.88975	-0.49;-0.49;-2.45	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.968	D	0.93971	0.7249	10	0.62326	D	0.03	-7.0204	14.8974	0.70654	0.0:0.9312:0.0:0.0688	.	256;256	O94806-2;O94806	.;KPCD3_HUMAN	H	256;256;152	ENSP00000368356:R256H;ENSP00000234179:R256H;ENSP00000401839:R152H	ENSP00000234179:R256H	R	-	2	0	PRKD3	37366967	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	1.428000	0.47296	0.655000	0.94253	CGC	.	.	none		0.403	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37513463	C	T	37513463	3	4	13	1	0	0	0	0	1	0	0	0	12520	768	27	1	1961	1	PRKD3	2	37513463	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	35969012	37513463	205685910	32	3096										
SFRS7	6432	hgsc.bcm.edu	37	chr2	38976739	38976739	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cccttttcgccacactcataGcatctatcatttggatcaaa	4	13	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:38976739G>C	ENST00000313117.6	-	3	555	c.318C>G	c.(316-318)tgC>tgG	p.C106W	SRSF7_ENST00000446327.2_Missense_Mutation_p.C106W|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.C106W	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	106					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACACTCATAGCATCTATCAT	0.458																																					p.C106W		Atlas-SNP	.											.	SRSF7	29	.	0			c.C318G						PASS	.						147	139	141					2																	38976739		2203	4300	6503	SO:0001583	missense	6432	exon3			CTCATAGCATCTA	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.318C>G	2.37:g.38976739G>C	ENSP00000325905:p.Cys106Trp	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	280	91	0.325	NM_001195446	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741058	0.49151	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.98028	-4.67;-4.67;-4.67	5.93	1.43	0.22495	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98776	1.0730	10	0.87932	D	0	.	11.8039	0.52143	0.3644:0.0:0.6356:0.0	.	106;106	G5E9M3;Q16629	.;SRSF7_HUMAN	W	106	ENSP00000325905:C106W;ENSP00000402264:C106W;ENSP00000386806:C106W	ENSP00000325905:C106W	C	-	3	2	SRSF7	38830243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.830000	0.27462	0.355000	0.24131	0.655000	0.94253	TGC	.	.	none		0.458	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		C	38976739	G	C	38976739	3	2	13	1	0	0	0	0	1	0	0	0	14182	963	34	4	422	4	SFRS7	2	38976739	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1463276	38976739	204222634	33	3097										
SFRS7	6432	hgsc.bcm.edu	37	chr2	38977316	38977316	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gccagcgccagttcccaggtTaccaacatacaccttggttt	8	14	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:38977316T>A	ENST00000313117.6	-	2	286	c.49A>T	c.(49-51)Aac>Tac	p.N17Y	SRSF7_ENST00000446327.2_Missense_Mutation_p.N17Y|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.N17Y	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	17	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTCCCAGGTTACCAACATAC	0.413																																					p.N17Y		Atlas-SNP	.											.	SRSF7	29	.	0			c.A49T						PASS	.						101	100	100					2																	38977316		2203	4300	6503	SO:0001583	missense	6432	exon2			CCAGGTTACCAAC	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.49A>T	2.37:g.38977316T>A	ENSP00000325905:p.Asn17Tyr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	87	33	0.37931	NM_001195446	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762475	0.69763	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.82803	-1.65;-1.65;-1.65	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.91090	3.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.94275	0.7514	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	17;17	G5E9M3;Q16629	.;SRSF7_HUMAN	Y	17	ENSP00000325905:N17Y;ENSP00000402264:N17Y;ENSP00000386806:N17Y	ENSP00000325905:N17Y	N	-	1	0	SRSF7	38830820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.233000	0.51311	2.326000	0.78906	0.533000	0.62120	AAC	.	.	none		0.413	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		A	38977316	T	A	38977316	3	1	13	1	0	0	0	0	1	0	0	0	14182	1754	61	5	695	5	SFRS7	2	38977316	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	577	38977316	204222057	34	3098										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141294279	141294279	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttgcaggaggaatttttagCtgcaagaaaaaaaaaaaaag	10	3	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:141294279C>A	ENST00000389484.3	-	46	8485		c.e46-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATTTTTAGCTGCAAGAAAA	0.328										TSP Lung(27;0.18)																											.	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.7514-1G>T						PASS	.						49	48	48					2																	141294279		2203	4300	6503	SO:0001630	splice_region_variant	53353	exon47			TTTTAGCTGCAAG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7514-1G>T	2.37:g.141294279C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	94	27	0.287234	NM_018557	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970286	0.74246	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9639	0.92687	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141010749	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.726000	0.84824	2.490000	0.84030	0.650000	0.86243	.	.	.	none		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	A	141294279	C	A	141294279	5	1	13	1	0	0	0	0	0	0	1	0	8955	811	28	4	6470	4	LRP1B	2	141294279	Splice_Site	SNP	C	TCGA-FF-8046-01A-11D-2210-10	102316963	141294279	101905094	35	3099										
NEB	4703	hgsc.bcm.edu	37	chr2	152432215	152432215	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttgtagtacttacattgctCacattaagagcatttgctct	7	8	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:152432215C>A	ENST00000172853.10	-	79	12051	c.11904G>T	c.(11902-11904)gtG>gtT	p.V3968V	NEB_ENST00000604864.1_Silent_p.V5669V|NEB_ENST00000427231.2_Silent_p.V5669V|NEB_ENST00000397345.3_Silent_p.V5669V|NEB_ENST00000603639.1_Silent_p.V5669V|NEB_ENST00000409198.1_Silent_p.V3968V			P20929	NEBU_HUMAN	nebulin	3968					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATTGCTCACATTAAGAG	0.423																																					p.V5669V		Atlas-SNP	.											.	NEB	1697	.	0			c.G17007T						PASS	.						234	233	233					2																	152432215		1861	4099	5960	SO:0001819	synonymous_variant	4703	exon107			ATTGCTCACATTA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11904G>T	2.37:g.152432215C>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	159	52	0.327044	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				.	.	none		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152432215	C	A	152432215	2	1	13	1	0	0	0	0	0	0	0	1	10302	813	29	4		4	NEB	2	152432215	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11137936	152432215	90767158	36	3100										
TTN	7273	hgsc.bcm.edu	37	chr2	179600638	179600638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aaaatgtgtttgttttctgcGtcggaaatcctccagttagg	10	7	1	0	rs184307461	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:179600638G>A	ENST00000591111.1	-	48	13808	c.13584C>T	c.(13582-13584)gaC>gaT	p.D4528D	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D3601D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.D4845D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				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)			TGTTTTCTGCGTCGGAAATCC	0.443													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20196	0.0		0.0	False		,,,				2504	0.0				p.D4845D		Atlas-SNP	.											TTN_ENST00000356127,NS,carcinoma,-2,2	TTN	18412	2	0			c.C14535T						PASS	.	G	,,,	0,3874		0,0,1937	135	131	132		,10803,,	-0.5	0.5	2		132	2,8284		0,2,4141	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6078	AA,AG,GG		0.0241,0.0,0.0164	,,,	,3601/33424,,	179600638	2,12158	1937	4143	6080	SO:0001819	synonymous_variant	7273	exon50			TTCTGCGTCGGAA	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.13584C>T	2.37:g.179600638G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	205	43	0.209756	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				G|1.000;A|0.000	0.000	strong		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179600638	G	A	179600638	2	1	13	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179600638	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	27168423	179600638	63598735	37	3101										
CASP8	841	hgsc.bcm.edu	37	chr2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	accaaatgaaaagcaaacctCggggatactgtctgatcatc	8	10	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:202141586C>T	ENST00000432109.2	+	8	886	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CASP8_ENST00000358485.4_Missense_Mutation_p.R292W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)																											p.R292W	Melanoma(82;831 1348 20716 36952 40159)	Atlas-SNP	.											CASP8_ENST00000358485,NS,carcinoma,0,6	CASP8	272	6	0			c.C874T						PASS	.						79	76	77					2																	202141586		2203	4300	6503	SO:0001583	missense	841	exon7			AAACCTCGGGGAT	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.697C>T	2.37:g.202141586C>T	ENSP00000412523:p.Arg233Trp	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	230	19	0.0826087	NM_001080125	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120327|3.120327	0.56613|0.56613	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000447616;ENST00000424461	D;D;D;D;D;D|.	0.84223|.	-1.53;-1.53;-1.82;-1.82;-1.53;-1.53|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase C14, caspase precursor p45, core (2);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	0.194920|.	0.44097|.	D|.	0.000497|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.24514|0.24514	N|N	0.994191|0.994191	D;D;D;D;D;D|D;P	0.89917|0.62365	1.0;1.0;1.0;1.0;1.0;1.0|0.991;0.931	D;D;D;D;D;D|P;B	0.91635|0.45753	0.994;0.987;0.997;0.998;0.999;0.997|0.492;0.356	T|T	0.10428|0.10428	-1.0630|-1.0630	10|8	0.66056|0.33141	D|T	0.02|0.24	.|.	12.1349|12.1349	0.53966|0.53966	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	233;218;292;233;218;250|196;211	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|L	218;233;250;115;292;218;218|211;196;211;196;59	ENSP00000376091:R218W;ENSP00000412523:R233W;ENSP00000264275:R250W;ENSP00000391709:R115W;ENSP00000351273:R292W;ENSP00000325722:R218W|.	ENSP00000264275:R250W|ENSP00000376087:S211L	R|S	+|+	1|2	2|0	CASP8|CASP8	201849831|201849831	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.328000|0.328000	0.28507|0.28507	1.051000|1.051000	0.30417|0.30417	2.624000|2.624000	0.88883|0.88883	0.561000|0.561000	0.74099|0.74099	CGG|TCG	.	.	none		0.428	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		T	202141586	C	T	202141586	3	4	13	1	0	0	0	0	1	0	0	0	2677	893	31	1	1000	1	CASP8	2	202141586	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	22540948	202141586	41057787	38	3102			1	18		2	2	12	N	T_C	9.16724e-05
CASP8	841	hgsc.bcm.edu	37	chr2	202141597	202141597	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agcaaacctcggggatactgTctgatcatcaacaatcacaa	7	11	4	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:202141597T>A	ENST00000432109.2	+	8	897	c.708T>A	c.(706-708)tgT>tgA	p.C236*	CASP8_ENST00000358485.4_Nonsense_Mutation_p.C295*|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Missense_Mutation_p.S215T|CASP8_ENST00000392266.3_Missense_Mutation_p.S200T|CASP8_ENST00000392258.3_Missense_Mutation_p.S215T|CASP8_ENST00000264275.5_Nonsense_Mutation_p.C253*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.C221*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	236					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGGATACTGTCTGATCATCA	0.448										HNSCC(4;0.00038)																											p.C295X	Melanoma(82;831 1348 20716 36952 40159)	Atlas-SNP	.											CASP8_ENST00000358485,NS,carcinoma,+1,3	CASP8	272	3	0			c.T885A						PASS	.						91	84	86					2																	202141597		2203	4300	6503	SO:0001587	stop_gained	841	exon7			ATACTGTCTGATC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.708T>A	2.37:g.202141597T>A	ENSP00000412523:p.Cys236*	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	224	16	0.0714286	NM_001080125	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.28|16.28	3.078350|3.078350	0.55753|0.55753	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000447616;ENST00000424461	.|.	.|.	.|.	5.6|5.6	3.27|3.27	0.37495|0.37495	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.19446	.|0.0467	.|.	.|.	.|.	0.21256|0.21256	N|N	0.999742|0.999742	.|P;P	.|0.36249	.|0.545;0.545	.|B;B	.|0.32677	.|0.15;0.098	.|T	.|0.09975	.|-1.0650	.|7	0.02654|0.25106	T|T	1|0.35	.|.	4.4221|4.4221	0.11486|0.11486	0.0:0.3337:0.0:0.6663|0.0:0.3337:0.0:0.6663	.|.	.|200;215	.|Q14790-6;Q14790-5	.|.;.	X|T	221;236;253;118;295;221;221|215;200;215;200;63	.|.	ENSP00000264275:C253X|ENSP00000376087:S215T	C|S	+|+	3|1	2|0	CASP8|CASP8	201849842|201849842	0.964000|0.964000	0.33143|0.33143	1.000000|1.000000	0.80357|0.80357	0.254000|0.254000	0.26022|0.26022	1.912000|1.912000	0.39946|0.39946	0.954000|0.954000	0.37851|0.37851	0.459000|0.459000	0.35465|0.35465	TGT|TCT	.	.	none		0.448	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		A	202141597	T	A	202141597	4	1	13	1	0	0	0	0	0	1	0	0	2677	1676	58	5	1011	5	CASP8	2	202141597	Nonsense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	11	202141597	41057776	39	3103			1	18		2	2	12	N	T_C	9.16724e-05
IKZF2	22807	hgsc.bcm.edu	37	chr2	213872244	213872244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggaaaaggactcggcagtgcTcacacttgaaggccctaatc	11	11	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:213872244T>C	ENST00000434687.1	-	9	1730	c.1421A>G	c.(1420-1422)gAg>gGg	p.E474G	IKZF2_ENST00000374319.4_Missense_Mutation_p.E448G|IKZF2_ENST00000451136.2_Missense_Mutation_p.E402G|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Missense_Mutation_p.E474G|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Missense_Mutation_p.E400G|IKZF2_ENST00000374327.4_Missense_Mutation_p.E329G|IKZF2_ENST00000342002.2_Missense_Mutation_p.E480G			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	474					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCGGCAGTGCTCACACTTGAA	0.498																																					p.E474G		Atlas-SNP	.											IKZF2,bladder,carcinoma,-1,1	IKZF2	71	1	0			c.A1421G						scavenged	.						182	172	175					2																	213872244		2203	4300	6503	SO:0001583	missense	22807	exon8			CAGTGCTCACACT	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1421A>G	2.37:g.213872244T>C	ENSP00000412869:p.Glu474Gly	Somatic	280	1	0.00357143		WXS	Illumina HiSeq	Phase_I	368	6	0.0163043	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614878	0.46631	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000002	T	0.60314	0.2259	L	0.50993	1.605	0.80722	D	1	D;D;D;B;D;D	0.89917	0.998;1.0;1.0;0.311;1.0;0.999	D;D;D;B;D;D	0.87578	0.969;0.994;0.998;0.276;0.993;0.947	T	0.62329	-0.6877	10	0.72032	D	0.01	-8.8486	16.1926	0.82004	0.0:0.0:0.0:1.0	.	402;400;329;448;474;252	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	G	474;480;474;448;402;400;329;178	ENSP00000410447:E474G;ENSP00000342876:E480G;ENSP00000412869:E474G;ENSP00000363439:E448G;ENSP00000395203:E402G;ENSP00000399574:E400G;ENSP00000363447:E329G	ENSP00000342876:E480G	E	-	2	0	IKZF2	213580489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.219000	0.72066	0.533000	0.62120	GAG	.	.	none		0.498	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		C	213872244	T	C	213872244	3	2	13	1	0	0	0	0	1	0	0	0	7615	1551	54	3	163	3	IKZF2	2	213872244	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	11730647	213872244	29327129	40	3104										
TNS1	7145	hgsc.bcm.edu	37	chr2	218713012	218713012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cttccgaaaaggattgagagCggaacataccgctggggtca	13	9	1	1	rs199985548		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:218713012C>T	ENST00000171887.4	-	17	2305	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	TNS1_ENST00000419504.1_Missense_Mutation_p.R618H|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.R618H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	618					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGATTGAGAGCGGAACATACC	0.642																																					p.R618H		Atlas-SNP	.											TNS1_ENST00000446903,NS,carcinoma,0,4	TNS1	251	4	0			c.G1853A						scavenged	.						62	52	55					2																	218713012		2203	4300	6503	SO:0001583	missense	7145	exon17			TGAGAGCGGAACA	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1853G>A	2.37:g.218713012C>T	ENSP00000171887:p.Arg618His	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515056	0.64634	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.95342	-3.21;-3.18;-3.19;-3.68	4.57	4.57	0.56435	.	0.130152	0.50627	D	0.000107	D	0.96775	0.8947	M	0.69823	2.125	0.80722	D	1	B;B;P;D;D	0.89917	0.449;0.345;0.952;1.0;1.0	B;B;B;D;D	0.78314	0.033;0.09;0.259;0.991;0.976	D	0.96813	0.9598	10	0.51188	T	0.08	.	17.539	0.87842	0.0:1.0:0.0:0.0	.	618;672;618;618;618	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	H	618;618;618;743	ENSP00000171887:R618H;ENSP00000408724:R618H;ENSP00000406016:R618H;ENSP00000405460:R743H	ENSP00000171887:R618H	R	-	2	0	TNS1	218421257	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.023000	0.49666	2.370000	0.80446	0.561000	0.74099	CGC	.	.	alt		0.642	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218713012	C	T	218713012	3	4	13	1	0	0	0	0	1	0	0	0	16340	768	27	1	3422	1	TNS1	2	218713012	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	4840768	218713012	24486361	41	3105										
SP140	11262	hgsc.bcm.edu	37	chr2	231135324	231135324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgtggatattgcaaacaacTccactttgggaaaacccaag	8	10	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:231135324T>C	ENST00000392045.3	+	15	1582	c.1468T>C	c.(1468-1470)Tcc>Ccc	p.S490P	SP140_ENST00000350136.5_Missense_Mutation_p.S359P|SP140_ENST00000486687.2_Missense_Mutation_p.S414P|SP140_ENST00000417495.3_Missense_Mutation_p.S376P|SP140_ENST00000343805.6_Missense_Mutation_p.S430P|SP140_ENST00000420434.3_Missense_Mutation_p.S463P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	490					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCAAACAACTCCACTTTGGG	0.289																																					p.S490P		Atlas-SNP	.											SP140_ENST00000392045,NS,carcinoma,-1,1	SP140	121	1	0			c.T1468C						scavenged	.						70	64	66					2																	231135324		1796	4066	5862	SO:0001583	missense	11262	exon15			AACAACTCCACTT	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1468T>C	2.37:g.231135324T>C	ENSP00000375899:p.Ser490Pro	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	285	5	0.0175439	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.682894	0.29872	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.61040	0.35;0.66;0.38;0.14;0.45	2.98	-1.27	0.09347	.	.	.	.	.	T	0.60051	0.2239	L	0.47016	1.485	0.09310	N	1	D;D;D;B	0.71674	0.998;0.967;0.981;0.447	D;D;D;B	0.75484	0.986;0.91;0.972;0.102	T	0.49762	-0.8905	9	0.56958	D	0.05	-5.8349	0.481	0.00547	0.2202:0.1327:0.2063:0.4408	.	463;376;430;490	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	P	414;359;490;376;430;463	ENSP00000440107:S414P;ENSP00000345846:S359P;ENSP00000375899:S490P;ENSP00000342096:S430P;ENSP00000398210:S463P	ENSP00000342096:S430P	S	+	1	0	SP140	230843568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.355000	0.20163	-0.212000	0.10109	0.529000	0.55759	TCC	.	.	none		0.289	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		C	231135324	T	C	231135324	3	2	13	1	0	0	0	0	1	0	0	0	14962	1551	54	3	1643	3	SP140	2	231135324	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	12422312	231135324	12064049	42	3106										
UGT1A3	54659	hgsc.bcm.edu	37	chr2	234638186	234638186	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctacataatgaggccctgatCaggcacctgaatgctacttc	8	12	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:234638186C>T	ENST00000482026.1	+	1	433	c.414C>T	c.(412-414)atC>atT	p.I138I	UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.I138I|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	138					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.I138I(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AGGCCCTGATCAGGCACCTGA	0.428																																					p.I138I		Atlas-SNP	.											UGT1A3,NS,carcinoma,0,1	UGT1A3	91	1	1	Substitution - coding silent(1)	breast(1)	c.C414T						scavenged	.						193	199	197					2																	234638186		2203	4300	6503	SO:0001819	synonymous_variant	54659	exon1			CCTGATCAGGCAC	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.414C>T	2.37:g.234638186C>T		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	294	3	0.0102041	NM_019093	B8K287	Silent	SNP	ENST00000482026.1	37	CCDS2509.1																																																																																			.	.	none		0.428	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		T	234638186	C	T	234638186	2	4	13	1	0	0	0	0	0	0	0	1	16943	816	29	2		2	UGT1A3	2	234638186	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3502862	234638186	8561187	43	3107										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982271	240982271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agggccatgggtgaagagccGtggatgaagggccatgggtg	20	6	0	3	rs76841013	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr2:240982271G>A	ENST00000408934.1	-	1	128	c.129C>T	c.(127-129)caC>caT	p.H43H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	43	Pro-rich.							p.H43H(4)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGCCGTGGATGAAGG	0.577													N|||	1226	0.244808	0.1838	0.2061	5008	,	,		19244	0.4167		0.2555	False		,,,				2504	0.1667				p.H43H		Atlas-SNP	.											PRR21,NS,lymphoid_neoplasm,0,4	PRR21	53	4	4	Substitution - coding silent(4)	haematopoietic_and_lymphoid_tissue(4)	c.C129T						scavenged	.						110	98	102					2																	240982271		2203	4300	6503	SO:0001819	synonymous_variant	643905	exon1			AGAGCCGTGGATG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.129C>T	2.37:g.240982271G>A		Somatic	79	2	0.0253165		WXS	Illumina HiSeq	Phase_I	64	14	0.21875	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			G|0.755;A|0.245	0.245	strong		0.577	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982271	G	A	240982271	2	1	13	1	0	0	0	0	0	0	0	1	12592	1136	40	1		1	PRR21	2	240982271	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	6344085	240982271	2217102	44	3108										
ITPR1	3708	hgsc.bcm.edu	37	chr3	4681129	4681129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caggaaattgctggggaccgTaatccagtatggcaatgtga	13	7	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:4681129T>C	ENST00000443694.2	+	4	341	c.341T>C	c.(340-342)gTa>gCa	p.V114A	ITPR1_ENST00000456211.2_Missense_Mutation_p.V114A|ITPR1_ENST00000302640.8_Missense_Mutation_p.V114A|ITPR1_ENST00000354582.6_Missense_Mutation_p.V114A|ITPR1_ENST00000357086.4_Missense_Mutation_p.V114A|ITPR1_ENST00000423119.2_Missense_Mutation_p.V114A|ITPR1_ENST00000544951.1_Missense_Mutation_p.V114A			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	114	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGGGACCGTAATCCAGTAT	0.453																																					p.V114A		Atlas-SNP	.											.	ITPR1	659	.	0			c.T341C						PASS	.						82	85	84					3																	4681129		1986	4151	6137	SO:0001583	missense	3708	exon6			GGACCGTAATCCA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.341T>C	3.37:g.4681129T>C	ENSP00000401671:p.Val114Ala	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	93	25	0.268817	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610731	0.87258	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	5.32	5.32	0.75619	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.116894	0.64402	D	0.000020	D	0.98469	0.9490	M	0.81341	2.54	0.40494	D	0.980576	B;P;P;P;P	0.43633	0.353;0.722;0.576;0.512;0.813	B;P;P;P;B	0.50162	0.17;0.633;0.45;0.45;0.432	D	0.99915	1.1220	10	0.22109	T	0.4	.	15.608	0.76689	0.0:0.0:0.0:1.0	.	114;114;114;114;114	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	A	114	ENSP00000306253:V114A;ENSP00000346595:V114A;ENSP00000405934:V114A;ENSP00000349597:V114A;ENSP00000397885:V114A;ENSP00000440564:V114A;ENSP00000401671:V114A	ENSP00000306253:V114A	V	+	2	0	ITPR1	4656129	1.000000	0.71417	0.050000	0.19076	0.964000	0.63967	7.908000	0.87438	2.141000	0.66446	0.528000	0.53228	GTA	.	.	none		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4681129	T	C	4681129	3	2	13	1	0	0	0	0	1	0	0	0	7920	1638	57	2	355	2	ITPR1	3	4681129	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10		4681129	193341301	45	3109										
TATDN2	9797	hgsc.bcm.edu	37	chr3	10318158	10318158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aaaaagtttgtgccccctgaCtacaagatccataggttaga	8	9	0	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:10318158C>T	ENST00000287652.4	+	5	2998	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.D649D|TATDN2_ENST00000496355.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	649					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGCCCCCTGACTACAAGATCC	0.458																																					p.D649D		Atlas-SNP	.											.	TATDN2	59	.	0			c.C1947T						PASS	.						72	65	68					3																	10318158		2203	4300	6503	SO:0001819	synonymous_variant	9797	exon5			CCCTGACTACAAG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1947C>T	3.37:g.10318158C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	52	4	0.0769231	NM_014760	Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	CCDS33698.1																																																																																			.	.	none		0.458	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		T	10318158	C	T	10318158	2	4	13	1	0	0	0	0	0	0	0	1	15589	564	20	2		2	TATDN2	3	10318158	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	5637029	10318158	187704272	46	3110										
ZNF385D	79750	hgsc.bcm.edu	37	chr3	21552504	21552504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttcgtgcctttgtagtgggcCgcagcctggctctacaaagg	13	11	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:21552504C>T	ENST00000281523.2	-	4	806	c.288G>A	c.(286-288)gcG>gcA	p.A96A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	96						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTAGTGGGCCGCAGCCTGGC	0.443																																					p.A96A		Atlas-SNP	.											ZNF385D,NS,carcinoma,-1,2	ZNF385D	93	2	0			c.G288A						scavenged	.						175	146	156					3																	21552504		2203	4300	6503	SO:0001819	synonymous_variant	79750	exon4			GTGGGCCGCAGCC	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.288G>A	3.37:g.21552504C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	165	3	0.0181818	NM_024697		Silent	SNP	ENST00000281523.2	37	CCDS2636.1																																																																																			.	.	none		0.443	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		T	21552504	C	T	21552504	2	4	13	1	0	0	0	0	0	0	0	1	17875	639	23	1		1	ZNF385D	3	21552504	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11234346	21552504	176469926	47	3111										
DOCK3	1795	hgsc.bcm.edu	37	chr3	51317590	51317590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgccagatgtgtgacacccaTttccagcacctcctggacaa	8	15	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:51317590T>C	ENST00000266037.9	+	27	2900	c.2877T>C	c.(2875-2877)caT>caC	p.H959H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	959					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGACACCCATTTCCAGCACC	0.537																																					p.H959H		Atlas-SNP	.											.	DOCK3	397	.	0			c.T2877C						PASS	.						76	77	77					3																	51317590		2092	4220	6312	SO:0001819	synonymous_variant	1795	exon27			CACCCATTTCCAG	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2877T>C	3.37:g.51317590T>C		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	228	64	0.280702	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																			.	.	none		0.537	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		C	51317590	T	C	51317590	2	2	13	1	0	0	0	0	0	0	0	1	4688	1490	52	2		2	DOCK3	3	51317590	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	29765086	51317590	146704840	48	3112										
TKT	7086	hgsc.bcm.edu	37	chr3	53259825	53259825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgcaatggcatccctgtcgaTaccaaacatcttcagcagct	7	13	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:53259825T>C	ENST00000462138.1	-	14	1907	c.1819A>G	c.(1819-1821)Atc>Gtc	p.I607V	TKT_ENST00000423525.2_Missense_Mutation_p.I607V|TKT_ENST00000423516.1_Missense_Mutation_p.I615V|TKT_ENST00000296289.6_Missense_Mutation_p.I560V|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	607					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TCCCTGTCGATACCAAACATC	0.572																																					p.I615V	Colon(133;1506 2347 35238 42177)	Atlas-SNP	.											TKT,NS,carcinoma,+2,1	TKT	38	1	0			c.A1843G						scavenged	.						94	79	84					3																	53259825		2203	4300	6503	SO:0001583	missense	7086	exon15			TGTCGATACCAAA		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1819A>G	3.37:g.53259825T>C	ENSP00000417773:p.Ile607Val	Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	129	3	0.0232558	NM_001258028	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939903	0.52972	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.49	5.49	0.81192	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	M	0.77103	2.36	0.80722	D	1	P;B;B	0.41475	0.751;0.33;0.087	P;B;B	0.61800	0.894;0.185;0.06	D	0.94911	0.8065	10	0.52906	T	0.07	-17.0819	15.5932	0.76554	0.0:0.0:0.0:1.0	.	615;524;607	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	607;607;615;560;441	ENSP00000417773:I607V;ENSP00000405455:I607V;ENSP00000391481:I615V;ENSP00000296289:I560V	ENSP00000296289:I560V	I	-	1	0	TKT	53234865	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	7.788000	0.85771	2.074000	0.62210	0.460000	0.39030	ATC	.	.	none		0.572	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			C	53259825	T	C	53259825	3	2	13	1	0	0	0	0	1	0	0	0	15931	1406	49	2	56	2	TKT	3	53259825	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	1942235	53259825	144762605	49	3113										
LRIG1	26018	hgsc.bcm.edu	37	chr3	66432748	66432748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gccaccctcggtcctgaccaCggtttcttgtcggtcagaaa	10	14	2	2	rs147267806		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:66432748C>G	ENST00000273261.3	-	16	3090	c.2566G>C	c.(2566-2568)Gtg>Ctg	p.V856L	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.V833L	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	856					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTCCTGACCACGGTTTCTTGT	0.532																																					p.V856L		Atlas-SNP	.											.	LRIG1	138	.	0			c.G2566C						PASS	.						149	153	151					3																	66432748		2203	4300	6503	SO:0001583	missense	26018	exon16			TGACCACGGTTTC	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2566G>C	3.37:g.66432748C>G	ENSP00000273261:p.Val856Leu	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	146	39	0.267123	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	6.761	0.509283	0.12883	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63913	-0.05;-0.07	5.5	2.73	0.32206	.	0.414681	0.26991	N	0.021468	T	0.49813	0.1579	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.35549	-0.9784	10	0.33141	T	0.24	.	10.5755	0.45225	0.0:0.7859:0.0:0.2141	.	833;856;856	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	L	856;833;759	ENSP00000273261:V856L;ENSP00000373208:V833L	ENSP00000273261:V856L	V	-	1	0	LRIG1	66515438	0.000000	0.05858	0.117000	0.21633	0.136000	0.21042	0.099000	0.15210	0.280000	0.22209	-0.751000	0.03497	GTG	C|1.000;T|0.000	.	alt		0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		G	66432748	C	G	66432748	3	3	13	1	0	0	0	0	1	0	0	0	8944	536	19	4	731	4	LRIG1	3	66432748	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	13172923	66432748	131589682	50	3114										
MITF	4286	hgsc.bcm.edu	37	chr3	69928321	69928321	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cctggggcctccaagcctccGataagctcctccagtatgac	9	16	0	1	rs199697494		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:69928321G>A	ENST00000448226.2	+	2	268	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MITF_ENST00000328528.6_Silent_p.P46P|MITF_ENST00000472437.1_5'UTR|MITF_ENST00000394355.2_Silent_p.P22P|MITF_ENST00000352241.4_Silent_p.P47P|MITF_ENST00000314589.5_Silent_p.P31P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	47					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCAAGCCTCCGATAAGCTCCT	0.537			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						G|||	1	0.000199681	0.0	0.0	5008	,	,		18415	0.001		0.0	False		,,,				2504	0.0				p.P47P	Melanoma(29;269 969 31479 41502 42961)	Atlas-SNP	.		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	MITF	156	.	0			c.G141A						PASS	.						43	48	46					3																	69928321		2035	4202	6237	SO:0001819	synonymous_variant	4286	exon2			GCCTCCGATAAGC		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.141G>A	3.37:g.69928321G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	93	30	0.322581	NM_198159	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37																																																																																				G|1.000;A|0.000	0.000	strong		0.537	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		A	69928321	G	A	69928321	2	1	13	1	0	0	0	0	0	0	0	1	9596	1045	37	1		1	MITF	3	69928321	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	3495573	69928321	128094109	51	3115										
MITF	4286	hgsc.bcm.edu	37	chr3	70008463	70008463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggaaccatcttaaaagcatcCgtggactatatccgaaagtt	8	9	1	0	rs149086403		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:70008463C>T	ENST00000448226.2	+	9	1198	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	MITF_ENST00000328528.6_Silent_p.S350S|MITF_ENST00000314557.6_Silent_p.S244S|MITF_ENST00000472437.1_Silent_p.S299S|MITF_ENST00000394351.3_Silent_p.S250S|MITF_ENST00000394355.2_Silent_p.S326S|MITF_ENST00000352241.4_Silent_p.S351S|MITF_ENST00000531774.1_Silent_p.S188S|MITF_ENST00000314589.5_Silent_p.S335S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	357	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		S -> P (in WS2A). {ECO:0000269|PubMed:8589691}.		bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TAAAAGCATCCGTGGACTATA	0.433			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														p.S351S	Melanoma(29;269 969 31479 41502 42961)	Atlas-SNP	.		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	MITF_ENST00000352241,colon,carcinoma,+1,2	MITF	156	2	0			c.C1053T						scavenged	.	C	,,,,,,	0,4406		0,0,2203	88	79	82		750,897,1050,732,1053,1005,564	-5	0.5	3	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MITF	NM_000248.3,NM_001184967.1,NM_006722.2,NM_198158.2,NM_198159.2,NM_198177.2,NM_198178.2	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	250/420,299/469,350/520,244/414,351/521,335/505,188/358	70008463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4286	exon9			AGCATCCGTGGAC		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1071C>T	3.37:g.70008463C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	103	3	0.0291262	NM_198159	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37																																																																																				C|1.000;T|0.000	0.000	weak		0.433	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		T	70008463	C	T	70008463	2	4	13	1	0	0	0	0	0	0	0	1	9596	639	23	1		1	MITF	3	70008463	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	80142	70008463	128013967	52	3116										
ZPLD1	131368	hgsc.bcm.edu	37	chr3	102187821	102187821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aatttagctgtgacaaggacCctcagaccaccgtcattgag	9	11	2	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:102187821C>T	ENST00000491959.1	+	15	1657	c.775C>T	c.(775-777)Cct>Tct	p.P259S	ZPLD1_ENST00000466937.1_Missense_Mutation_p.P259S|ZPLD1_ENST00000306176.1_Missense_Mutation_p.P275S			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	259	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.P275T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGACAAGGACCCTCAGACCAC	0.438																																					p.P275S		Atlas-SNP	.											ZPLD1,rectum,carcinoma,-2,3	ZPLD1	82	3	1	Substitution - Missense(1)	ovary(1)	c.C823T						scavenged	.						64	65	65					3																	102187821		2203	4300	6503	SO:0001583	missense	131368	exon8			AAGGACCCTCAGA	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.775C>T	3.37:g.102187821C>T	ENSP00000420265:p.Pro259Ser	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	131	5	0.0381679	NM_175056	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	C	18.39	3.613661	0.66672	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81078	-1.45;-1.45;-1.45	5.47	5.47	0.80525	Zona pellucida sperm-binding protein (3);	0.047572	0.85682	D	0.000000	T	0.79251	0.4414	L	0.31476	0.935	0.80722	D	1	D;P	0.58620	0.983;0.503	P;B	0.50825	0.651;0.238	T	0.77019	-0.2743	10	0.29301	T	0.29	-13.8774	19.3006	0.94143	0.0:1.0:0.0:0.0	.	275;259	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	S	259;275;259	ENSP00000420265:P259S;ENSP00000307801:P275S;ENSP00000418253:P259S	ENSP00000307801:P275S	P	+	1	0	ZPLD1	103670511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.042000	0.70996	2.571000	0.86741	0.462000	0.41574	CCT	.	.	none		0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		T	102187821	C	T	102187821	3	4	13	1	0	0	0	0	1	0	0	0	18218	623	22	2	853	2	ZPLD1	3	102187821	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	32179358	102187821	95834609	53	3117										
BCHE	590	hgsc.bcm.edu	37	chr3	165547891	165547891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtttactgacaaaggagtccCataggggacaacaaatgctt	10	8	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr3:165547891C>T	ENST00000264381.3	-	2	1097	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	311					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAAGGAGTCCCATAGGGGACA	0.393																																					p.G311R		Atlas-SNP	.											BCHE,rectum,carcinoma,0,2	BCHE	136	2	0			c.G931A						scavenged	.						45	49	48					3																	165547891		2202	4295	6497	SO:0001583	missense	590	exon2			GAGTCCCATAGGG	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.931G>A	3.37:g.165547891C>T	ENSP00000264381:p.Gly311Arg	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	275	3	0.0109091	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190568	0.01607	.	.	ENSG00000114200	ENST00000264381	D	0.95238	-3.65	5.42	4.54	0.55810	Carboxylesterase, type B (1);	0.752409	0.13633	N	0.373588	D	0.84710	0.5532	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.73081	-0.4095	10	0.23302	T	0.38	.	7.6275	0.28220	0.2946:0.6292:0.0:0.0762	.	311	P06276	CHLE_HUMAN	R	311	ENSP00000264381:G311R	ENSP00000264381:G311R	G	-	1	0	BCHE	167030585	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.052000	0.11865	1.269000	0.44280	-0.182000	0.12963	GGG	.	.	none		0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			T	165547891	C	T	165547891	3	4	13	1	0	0	0	0	1	0	0	0	1358	594	21	2	889	2	BCHE	3	165547891	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	63360070	165547891	32474539	54	3118										
GRK4	2868	hgsc.bcm.edu	37	chr4	2986263	2986263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gatatggcaaaaaaagtggtCgtagtaaaaaatggaaggag	13	2	0	0	rs146194528		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:2986263C>T	ENST00000398052.4	+	2	419	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000504933.1_Missense_Mutation_p.R26C|GRK4_ENST00000345167.6_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	26	N-terminal.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R26C(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGTGGTCGTAGTAAAAA	0.388																																					p.R26C		Atlas-SNP	.											GRK4_ENST00000398052,NS,carcinoma,0,3	GRK4	72	3	1	Substitution - Missense(1)	large_intestine(1)	c.C76T						scavenged	.	C	,CYS/ARG,CYS/ARG	1,4405		0,1,2202	86	82	83		,76,76	4.7	0.9	4	dbSNP_134	83	0,8600		0,0,4300	no	intron,missense,missense	GRK4	NM_001004056.1,NM_001004057.1,NM_182982.2	,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging,probably-damaging	,26/533,26/579	2986263	1,13005	2203	4300	6503	SO:0001583	missense	2868	exon2			AGTGGTCGTAGTA		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.76C>T	4.37:g.2986263C>T	ENSP00000381129:p.Arg26Cys	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	391	7	0.0179028	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034195	0.54896	2.27E-4	0.0	ENSG00000125388	ENST00000398052;ENST00000504933	T;T	0.69685	-0.42;-0.4	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.82545	0.5060	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85486	0.1182	10	0.87932	D	0	-21.0407	15.1751	0.72903	0.0:1.0:0.0:0.0	.	26;26	P32298-4;P32298	.;GRK4_HUMAN	C	26	ENSP00000381129:R26C;ENSP00000427445:R26C	ENSP00000381129:R26C	R	+	1	0	GRK4	2956061	1.000000	0.71417	0.945000	0.38365	0.120000	0.20174	3.049000	0.49869	2.431000	0.82371	0.650000	0.86243	CGT	C|1.000;T|0.000	0.000	weak		0.388	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		T	2986263	C	T	2986263	3	4	13	1	0	0	0	0	1	0	0	0	6791	884	31	1	82	1	GRK4	4	2986263	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10		2986263	188168013	55	3119										
STK32B	55351	hgsc.bcm.edu	37	chr4	5418579	5418579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tctgtatttgcaggacatgtTcacattacagacttcaacat	6	9	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:5418579T>C	ENST00000282908.5	+	6	902	c.480T>C	c.(478-480)gtT>gtC	p.V160V	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Silent_p.V113V	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGGACATGTTCACATTACAG	0.507																																					p.V160V		Atlas-SNP	.											STK32B,NS,carcinoma,+2,1	STK32B	87	1	0			c.T480C						scavenged	.						90	75	80					4																	5418579		2203	4300	6503	SO:0001819	synonymous_variant	55351	exon6			ACATGTTCACATT	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.480T>C	4.37:g.5418579T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_018401		Silent	SNP	ENST00000282908.5	37	CCDS3380.1																																																																																			.	.	none		0.507	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		C	5418579	T	C	5418579	2	2	13	1	0	0	0	0	0	0	0	1	15297	1770	62	2		2	STK32B	4	5418579	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	2432316	5418579	185735697	56	3120										
GABRA2	2555	hgsc.bcm.edu	37	chr4	46305606	46305606	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttttcttttcaggtggaaatGagctgtcattacagtatatt	8	5	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:46305606G>A	ENST00000510861.1	-	8	900	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	GABRA2_ENST00000540012.1_Missense_Mutation_p.H188Y|GABRA2_ENST00000515082.1_Missense_Mutation_p.H243Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.H243Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.H243Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.H243Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.H243Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	243					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGTGGAAATGAGCTGTCATT	0.363																																					p.H243Y		Atlas-SNP	.											GABRA2,NS,malignant_melanoma,0,1	GABRA2	134	1	0			c.C727T						scavenged	.						92	94	93					4																	46305606		2203	4300	6503	SO:0001583	missense	2555	exon8			GGAAATGAGCTGT		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.727C>T	4.37:g.46305606G>A	ENSP00000421828:p.His243Tyr	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	183	3	0.0163934	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.913002	0.17907	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	N	0.16478	0.41	0.58432	D	0.999993	B;B;B	0.23937	0.094;0.009;0.002	B;B;B	0.28011	0.085;0.024;0.007	T	0.60120	-0.7325	10	0.06099	T	0.92	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	188;243;243	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	Y	243;243;243;243;188;243;243	ENSP00000421828:H243Y;ENSP00000421300:H243Y;ENSP00000371033:H243Y;ENSP00000348897:H243Y;ENSP00000444409:H188Y;ENSP00000427603:H243Y;ENSP00000423840:H243Y	ENSP00000348897:H243Y	H	-	1	0	GABRA2	46000363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.918000	0.63376	2.689000	0.91719	0.655000	0.94253	CAT	.	.	none		0.363	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			A	46305606	G	A	46305606	3	1	13	1	0	0	0	0	1	0	0	0	6161	1290	45	2	640	2	GABRA2	4	46305606	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	40887027	46305606	144848670	57	3121										
ATP10D	57205	hgsc.bcm.edu	37	chr4	47514734	47514734	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttgttccccacatccagccCttcaaggatgagtatgagaa	9	11	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:47514734C>A	ENST00000273859.3	+	2	446	c.177C>A	c.(175-177)ccC>ccA	p.P59P	ATP10D_ENST00000504445.1_Silent_p.P59P	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	59					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACATCCAGCCCTTCAAGGATG	0.473																																					p.P59P		Atlas-SNP	.											ATP10D,right_upper_lobe,carcinoma,+1,1	ATP10D	168	1	0			c.C177A						scavenged	.						87	85	86					4																	47514734		2203	4300	6503	SO:0001819	synonymous_variant	57205	exon2			CCAGCCCTTCAAG	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.177C>A	4.37:g.47514734C>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	127	4	0.0314961	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																			.	.	none		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47514734	C	A	47514734	2	1	13	1	0	0	0	0	0	0	0	1	1118	668	24	4		4	ATP10D	4	47514734	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1209128	47514734	143639542	58	3122										
CWH43	80157	hgsc.bcm.edu	37	chr4	48990495	48990495	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	actttttttttttttgtaggAtgtgtttcttggtctctcta	7	5	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:48990495A>G	ENST00000226432.4	+	2	228	c.45A>G	c.(43-45)ggA>ggG	p.G15G	CWH43_ENST00000513409.1_5'UTR	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	15					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						TTTTTGTAGGATGTGTTTCTT	0.418																																					p.G15G		Atlas-SNP	.											.	CWH43	101	.	0			c.A45G						PASS	.						77	79	78					4																	48990495		2203	4300	6503	SO:0001630	splice_region_variant	80157	exon2			TGTAGGATGTGTT		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.44-1A>G	4.37:g.48990495A>G		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_025087	B2RPD7	Silent	SNP	ENST00000226432.4	37	CCDS3486.1																																																																																			.	.	none		0.418	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Silent	G	48990495	A	G	48990495	5	3	13	1	0	0	0	0	0	0	1	0	4073	347	12	2	51	2	CWH43	4	48990495	Splice_Site	SNP	A	TCGA-FF-8046-01A-11D-2210-10	1475761	48990495	142163781	59	3123										
LRRC66	339977	hgsc.bcm.edu	37	chr4	52862081	52862081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gccaggtcctggggagcgtcCtcttttttgccggcagcctg	14	13	1	0	rs367551436		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:52862081C>T	ENST00000343457.3	-	4	1113	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	369						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGGAGCGTCCTCTTTTTTGC	0.582																																					p.E369E		Atlas-SNP	.											LRRC66,NS,carcinoma,-2,1	LRRC66	128	1	0			c.G1107A						scavenged	.						36	39	38					4																	52862081		1977	4160	6137	SO:0001819	synonymous_variant	339977	exon4			AGCGTCCTCTTTT	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1107G>A	4.37:g.52862081C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	241	4	0.0165975	NM_001024611		Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																			.	.	weak		0.582	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		T	52862081	C	T	52862081	2	4	13	1	0	0	0	0	0	0	0	1	9018	680	24	2		2	LRRC66	4	52862081	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3871586	52862081	138292195	60	3124										
UGT2B28	54490	hgsc.bcm.edu	37	chr4	70152499	70152499	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaatttgtacagagctctggTgaaaatggtgttgtggtgtt	14	3	1	2	rs41292341	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:70152499T>A	ENST00000335568.5	+	3	902	c.900T>A	c.(898-900)ggT>ggA	p.G300G	UGT2B28_ENST00000511240.1_Silent_p.G300G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	300					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGCTCTGGTGAAAATGGTG	0.413													t|||	142	0.0283546	0.0371	0.036	5008	,	,		10829	0.004		0.0388	False		,,,				2504	0.0256				p.G300G		Atlas-SNP	.											UGT2B28,caecum,carcinoma,0,1	UGT2B28	101	1	0			c.T900A						scavenged	.	A	,	93,4047		15,63,1992	140	158	152		900,900	0.7	1	4	dbSNP_127	152	305,8197		44,217,3990	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	59,280,5982	AA,AT,TT		3.5874,2.2464,3.1482	,	300/336,300/530	70152499	398,12244	2070	4251	6321	SO:0001819	synonymous_variant	54490	exon3			CTCTGGTGAAAAT	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.900T>A	4.37:g.70152499T>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	183	7	0.0382514	NM_053039	B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	CCDS3528.1																																																																																			T|0.972;A|0.028	0.028	strong		0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70152499	T	A	70152499	2	1	13	1	0	0	0	0	0	0	0	1	16957	1683	59	5		5	UGT2B28	4	70152499	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	17290418	70152499	121001777	61	3125										
KIAA1109	84162	hgsc.bcm.edu	37	chr4	123094241	123094241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acctcacatattataattccCggaatgttggtcttatttta	5	8	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:123094241C>T	ENST00000264501.4	+	4	521	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R50W|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R50W			Q2LD37	K1109_HUMAN	KIAA1109	50					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTATAATTCCCGGAATGTTGG	0.328																																					p.R50W		Atlas-SNP	.											KIAA1109,NS,carcinoma,-1,1	KIAA1109	424	1	0			c.C148T						scavenged	.						191	182	185					4																	123094241		1820	4074	5894	SO:0001583	missense	84162	exon2			AATTCCCGGAATG	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.148C>T	4.37:g.123094241C>T	ENSP00000264501:p.Arg50Trp	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	153	3	0.0196078	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260368	0.80246	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.37411	1.78;1.78;1.2	5.46	3.71	0.42584	.	0.316033	0.18473	U	0.140164	T	0.33323	0.0859	L	0.56199	1.76	0.58432	D	0.999999	B	0.18310	0.027	B	0.09377	0.004	T	0.11867	-1.0570	10	0.87932	D	0	.	10.0228	0.42053	0.1379:0.7896:0.0:0.0725	.	50	Q2LD37	K1109_HUMAN	W	50	ENSP00000264501:R50W;ENSP00000373390:R50W;ENSP00000389925:R50W	ENSP00000264501:R50W	R	+	1	2	KIAA1109	123313691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.532000	0.53553	0.644000	0.30656	0.655000	0.94253	CGG	.	.	none		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123094241	C	T	123094241	3	4	13	1	0	0	0	0	1	0	0	0	8208	643	23	1	154	1	KIAA1109	4	123094241	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	52941742	123094241	68060035	62	3126										
PLK4	10733	hgsc.bcm.edu	37	chr4	128804641	128804641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tatgtgtatctggtattagaAatgtgccataatggagaaat	10	3	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:128804641A>G	ENST00000270861.5	+	4	544	c.270A>G	c.(268-270)gaA>gaG	p.E90E	PLK4_ENST00000513090.1_Silent_p.E58E|PLK4_ENST00000507249.1_Silent_p.E90E|PLK4_ENST00000514379.1_Silent_p.E49E|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Silent_p.E90E	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGGTATTAGAAATGTGCCATA	0.299																																					p.E90E	Colon(135;508 1718 19061 31832 42879)	Atlas-SNP	.											PLK4,NS,carcinoma,+1,1	PLK4	65	1	0			c.A270G						scavenged	.						66	71	69					4																	128804641		2203	4294	6497	SO:0001819	synonymous_variant	10733	exon4			ATTAGAAATGTGC	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.270A>G	4.37:g.128804641A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	71	3	0.0422535	NM_014264	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																			.	.	none		0.299	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			G	128804641	A	G	128804641	2	3	13	1	0	0	0	0	0	0	0	1	12098	11	1	2		2	PLK4	4	128804641	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	5710400	128804641	62349635	63	3127										
ACCN5	51802	hgsc.bcm.edu	37	chr4	156784634	156784634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aaatgtcacagctgggaactCcatcttttccacatattgaa	6	10	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:156784634C>T	ENST00000537611.2	-	2	359	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	105					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GCTGGGAACTCCATCTTTTCC	0.358																																					p.E105K		Atlas-SNP	.											.	.	.	.	0			c.G313A						PASS	.						73	64	67					4																	156784634		2203	4300	6503	SO:0001583	missense	51802	exon2			GGAACTCCATCTT	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.313G>A	4.37:g.156784634C>T	ENSP00000442477:p.Glu105Lys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	96	4	0.0416667	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533035	0.45073	.	.	ENSG00000256394	ENST00000537611	T	0.63417	-0.04	4.34	4.34	0.51931	.	0.501251	0.19042	N	0.124277	T	0.48892	0.1525	L	0.40543	1.245	0.80722	D	1	B	0.12630	0.006	B	0.15870	0.014	T	0.36383	-0.9750	10	0.09590	T	0.72	0.3777	11.8835	0.52589	0.0:0.9036:0.0:0.0964	.	105	Q9NY37	ACCN5_HUMAN	K	105	ENSP00000442477:E105K	ENSP00000264432:E105K	E	-	1	0	ACCN5	157004084	0.985000	0.35326	0.997000	0.53966	0.998000	0.95712	2.520000	0.45554	2.369000	0.80426	0.650000	0.86243	GAG	.	.	none		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			T	156784634	C	T	156784634	3	4	13	1	0	0	0	0	1	0	0	0	132	864	30	2	1240	2	ACCN5	4	156784634	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	27979993	156784634	34369642	64	3128										
SPOCK3	50859	hgsc.bcm.edu	37	chr4	167675875	167675875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aattggcaagatgctggtatCgaatcctaaaggcaaaaaaa	9	6	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:167675875C>T	ENST00000357154.3	-	9	861	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SPOCK3_ENST00000534949.1_Missense_Mutation_p.D146N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D199N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D110N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D122N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D191N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D239N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D239N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	242					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGCTGGTATCGAATCCTAAA	0.388																																					p.D242N		Atlas-SNP	.											SPOCK3,rectum,carcinoma,+2,1	SPOCK3	90	1	0			c.G724A						scavenged	.						104	95	98					4																	167675875		2203	4300	6503	SO:0001583	missense	50859	exon9			TGGTATCGAATCC	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.724G>A	4.37:g.167675875C>T	ENSP00000349677:p.Asp242Asn	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	143	2	0.013986	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373746	0.82573	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.87491	1.4;1.41;1.41;1.4;1.4;1.4;1.42;1.34;0.85;1.41;1.39;1.21;0.85;1.1;2.13;-2.26	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.107040	0.64402	D	0.000005	D	0.91620	0.7352	L	0.48986	1.54	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.966;0.984;0.997;0.998;0.998;0.984;0.996;0.998	D	0.88269	0.2928	10	0.23891	T	0.37	-1.5653	20.0723	0.97728	0.0:1.0:0.0:0.0	.	144;146;191;251;199;242;239;242	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	N	242;239;239;242;242;242;199;122;144;239;110;191;144;146;239;121	ENSP00000349677:D242N;ENSP00000350153:D239N;ENSP00000425570:D239N;ENSP00000420920:D242N;ENSP00000423421:D242N;ENSP00000423606:D242N;ENSP00000426716:D199N;ENSP00000444789:D122N;ENSP00000426318:D144N;ENSP00000425502:D239N;ENSP00000441396:D110N;ENSP00000411344:D191N;ENSP00000445430:D144N;ENSP00000438142:D146N;ENSP00000426177:D239N;ENSP00000423176:D121N	ENSP00000349677:D242N	D	-	1	0	SPOCK3	167912450	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.687000	0.84139	2.819000	0.97034	0.650000	0.86243	GAT	.	.	none		0.388	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167675875	C	T	167675875	3	4	13	1	0	0	0	0	1	0	0	0	15080	884	31	1	602	1	SPOCK3	4	167675875	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	10891241	167675875	23478401	65	3129										
ADAM29	11086	hgsc.bcm.edu	37	chr4	175899079	175899079	+	Silent	SNP	C	C	T													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agtcaacctcctgtgacaccCtcccagaggcaacctcagtt					rs151310201	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:175899079C>T	ENST00000359240.3	+	5	3073	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	ADAM29_ENST00000445694.1_Silent_p.P801P|ADAM29_ENST00000514159.1_Silent_p.P801P|ADAM29_ENST00000404450.4_Silent_p.P801P|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	801	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGTGACACCCTCCCAGAGGC	0.567																																					p.P801P	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											ADAM29,NS,carcinoma,0,1	ADAM29	262	1	0			c.C2403T						scavenged	.						138	128	131					4																	175899079		2203	4300	6503	SO:0001819	synonymous_variant	11086	exon4			GACACCCTCCCAG	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2403C>T	4.37:g.175899079C>T		Somatic	82	7	0.0853659		WXS	Illumina HiSeq	Phase_I	97	14	0.14433	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																			C|0.986;T|0.013	0.013	strong		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175899079	C	T	175899079	2	4	13	1	0	0	0	0	0	0	0	1	247	668	24	2		2	ADAM29	4	175899079	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	8223204	175899079	15255197	66	3130	56	2								
ADAM29	11086	hgsc.bcm.edu	37	chr4	175899088	175899088	+	Missense_Mutation	SNP	G	G	T													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cctgtgacaccctcccagagGcaacctcagttgatgccttc					rs146933346	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:175899088G>T	ENST00000359240.3	+	5	3082	c.2412G>T	c.(2410-2412)agG>agT	p.R804S	ADAM29_ENST00000445694.1_Missense_Mutation_p.R804S|ADAM29_ENST00000514159.1_Missense_Mutation_p.R804S|ADAM29_ENST00000404450.4_Missense_Mutation_p.R804S|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	804	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCCAGAGGCAACCTCAGT	0.572													T|||	28	0.00559105	0.0	0.0014	5008	,	,		19556	0.0099		0.0109	False		,,,				2504	0.0061				p.R804S	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											ADAM29,NS,lymphoid_neoplasm,0,1	ADAM29	262	1	0			c.G2412T						scavenged	.						133	124	127					4																	175899088		2203	4300	6503	SO:0001583	missense	11086	exon4			CCAGAGGCAACCT	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2412G>T	4.37:g.175899088G>T	ENSP00000352177:p.Arg804Ser	Somatic	75	5	0.0666667		WXS	Illumina HiSeq	Phase_I	94	14	0.148936	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.909135	0.00056	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	0.439	-0.878	0.10617	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47947	-0.9077	8	.	.	.	.	2.6605	0.05025	0.2447:0.0:0.4895:0.2658	.	804	Q9UKF5	ADA29_HUMAN	S	804	ENSP00000352177:R804S;ENSP00000414544:R804S;ENSP00000384229:R804S;ENSP00000423517:R804S	.	R	+	3	2	ADAM29	176135663	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-3.656000	0.00401	-1.571000	0.01663	-1.187000	0.01702	AGG	C|0.001;G|0.998;T|0.001	0.001	weak		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175899088	G	T	175899088	3	4	13	1	0	0	0	0	1	0	0	0	247	1194	42	4	2414	4	ADAM29	4	175899088	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	9	175899088	15255188	67	3131	56	2								
ADAM29	11086	hgsc.bcm.edu	37	chr4	175899130	175899130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagagtcaacctcctgtgacGccctcctagagccaacctca	7	17	2	3	rs376108430	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr4:175899130G>A	ENST00000359240.3	+	5	3124	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	ADAM29_ENST00000445694.1_Silent_p.T818T|ADAM29_ENST00000514159.1_Silent_p.T818T|ADAM29_ENST00000404450.4_Silent_p.T818T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	818	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T818T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCCTGTGACGCCCTCCTAGA	0.587													G|||	9	0.00179712	0.0	0.0	5008	,	,		17825	0.0069		0.0	False		,,,				2504	0.002				p.T818T	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											ADAM29,NS,carcinoma,0,1	ADAM29	262	1	1	Substitution - coding silent(1)	lung(1)	c.G2454A						scavenged	.	G	,,,	2,4404	4.2+/-10.8	0,2,2201	107	105	106		2454,2454,2454,2454	-1.3	0	4		106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	818/821,818/821,818/821,818/821	175899130	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11086	exon4			TGTGACGCCCTCC	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2454G>A	4.37:g.175899130G>A		Somatic	63	2	0.031746		WXS	Illumina HiSeq	Phase_I	75	9	0.12	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																			.	.	weak		0.587	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175899130	G	A	175899130	2	1	13	1	0	0	0	0	0	0	0	1	247	1074	38	1		1	ADAM29	4	175899130	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	42	175899130	15255146	68	3132										
TPPP	11076	hgsc.bcm.edu	37	chr5	678087	678087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cctccgattccagcgacagcCtcttggctgcccggtccttc	9	18	1	0	rs570878136	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:678087C>T	ENST00000360578.5	-	2	210	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	30	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R30K(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGCGACAGCCTCTTGGCTGC	0.677													C|||	15	0.00299521	0.0061	0.0	5008	,	,		16462	0.0069		0.0	False		,,,				2504	0.0				p.R30K		Atlas-SNP	.											TPPP,NS,carcinoma,0,1	TPPP	24	1	1	Substitution - Missense(1)	prostate(1)	c.G89A						scavenged	.						14	17	16					5																	678087		2199	4295	6494	SO:0001583	missense	11076	exon2			GACAGCCTCTTGG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.89G>A	5.37:g.678087C>T	ENSP00000353785:p.Arg30Lys	Somatic	320	10	0.03125		WXS	Illumina HiSeq	Phase_I	244	6	0.0245902	NM_007030		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605282	0.46423	.	.	ENSG00000171368	ENST00000360578	T	0.45276	0.9	5.23	5.23	0.72850	.	0.149935	0.44902	D	0.000407	T	0.29588	0.0738	L	0.29908	0.895	0.44635	D	0.997618	B	0.15141	0.012	B	0.13407	0.009	T	0.11867	-1.0570	10	0.05436	T	0.98	-54.1656	16.5545	0.84482	0.0:1.0:0.0:0.0	.	30	O94811	TPPP_HUMAN	K	30	ENSP00000353785:R30K	ENSP00000353785:R30K	R	-	2	0	TPPP	731087	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	4.081000	0.57627	2.437000	0.82529	0.491000	0.48974	AGG	.	.	none		0.677	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678087	C	T	678087	3	4	13	1	0	0	0	0	1	0	0	0	16410	681	24	2	582	2	TPPP	5	678087	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10		678087	180237173	69	3133										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23527721	23527721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gggagtgtgggcggggctttCgcaataagtcacacctcctc	14	11	1	0	rs201643800		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:23527721C>A	ENST00000296682.3	+	11	2706	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																											p.R842S		Atlas-SNP	.											PRDM9,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,1	PRDM9	344	1	0			c.C2524A						scavenged	.						64	74	71					5																	23527721		2182	4295	6477	SO:0001583	missense	56979	exon11			GGCTTTCGCAATA	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2524C>A	5.37:g.23527721C>A	ENSP00000296682:p.Arg842Ser	Somatic	149	3	0.0201342		WXS	Illumina HiSeq	Phase_I	130	11	0.0846154	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.150552	0.00029	.	.	ENSG00000164256	ENST00000296682	T	0.07567	3.18	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44483	-0.9325	9	0.02654	T	1	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	S	842	ENSP00000296682:R842S	ENSP00000296682:R842S	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC	.	.	weak		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527721	C	A	23527721	3	1	13	1	0	0	0	0	1	0	0	0	12463	884	31	4	2562	4	PRDM9	5	23527721	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	22849634	23527721	157387539	70	3134										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52351856	52351856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acgcccttgatactaaaaatTtaataaaagaaataaaagca	4	6	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:52351856T>C	ENST00000296585.5	+	9	1116	c.973T>C	c.(973-975)Tta>Cta	p.L325L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	325	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TACTAAAAATTTAATAAAAGA	0.358																																					p.L325L		Atlas-SNP	.											.	ITGA2	211	.	0			c.T973C						PASS	.						37	42	41					5																	52351856		2198	4297	6495	SO:0001819	synonymous_variant	3673	exon9			AAAAATTTAATAA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.973T>C	5.37:g.52351856T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	102	5	0.0490196	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			.	.	none		0.358	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		C	52351856	T	C	52351856	2	2	13	1	0	0	0	0	0	0	0	1	7875	1838	64	2		2	ITGA2	5	52351856	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	28824135	52351856	128563404	71	3135										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950717	79950717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gctgcagcggctgcagcggcCgcagcggccgcagcgccccc	16	19	0	0	rs201874762|rs201906899	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:79950717C>T	ENST00000265081.6	+	1	251	c.171C>T	c.(169-171)gcC>gcT	p.A57A	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ctgcagcggccgcagcggccg	0.701								Mismatch excision repair (MMR)					-|||	1025	0.204673	0.2602	0.1715	5008	,	,		6102	0.0466		0.2048	False		,,,				2504	0.316				p.A57A	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											MSH3_ENST00000265081,NS,carcinoma,+2,1	MSH3	129	1	0			c.C171T						scavenged	.						6	7	7					5																	79950717		2068	4046	6114	SO:0001819	synonymous_variant	4437	exon1			AGCGGCCGCAGCG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.171C>T	5.37:g.79950717C>T		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	12	3	0.25	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			C|0.979;T|0.021	0.021	strong		0.701	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		T	79950717	C	T	79950717	2	4	13	1	0	0	0	0	0	0	0	1	9871	639	23	1		1	MSH3	5	79950717	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	27598861	79950717	100964543	72	3136										
AQPEP	206338	hgsc.bcm.edu	37	chr5	115351066	115351066	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acaaacaaagaagaaaagatTcaacttgcttatgcaatgag	7	6	1	4			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:115351066T>A	ENST00000357872.4	+	17	2692	c.2568T>A	c.(2566-2568)atT>atA	p.I856I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		856						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAGAAAAGATTCAACTTGCTT	0.343																																					p.I856I		Atlas-SNP	.											FLJ90650,caecum,carcinoma,0,1	.	.	1	0			c.T2568A						scavenged	.						91	87	88					5																	115351066		2202	4300	6502	SO:0001819	synonymous_variant	0	exon17			AAAGATTCAACTT																												ENST00000357872.4:c.2568T>A	5.37:g.115351066T>A		Somatic	46	2	0.0434783		WXS	Illumina HiSeq	Phase_I	45	3	0.0666667	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																			.	.	none		0.343	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115351066	T	A	115351066	2	1	13	1	0	0	0	0	0	0	0	1	834	1771	62	5		5	AQPEP	5	115351066	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	35400349	115351066	65564194	73	3137										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140502487	140502487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcacgggagaaatactgttgAaaaaaaaattggatttcgaa	9	4	1	2	rs372292910		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:140502487A>G	ENST00000194152.1	+	1	907	c.907A>G	c.(907-909)Aaa>Gaa	p.K303E	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACTGTTGAAAAAAAAATT	0.368																																					p.K303E		Atlas-SNP	.											PCDHB4,NS,carcinoma,-2,1	PCDHB4	177	1	1	Deletion - Frameshift(1)	lung(1)	c.A907G						scavenged	.						88	105	99					5																	140502487		2202	4299	6501	SO:0001583	missense	56131	exon1			CTGTTGAAAAAAA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.907A>G	5.37:g.140502487A>G	ENSP00000194152:p.Lys303Glu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	76	2	0.0263158	NM_018938	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	A	8.408	0.843501	0.16963	.	.	ENSG00000081818	ENST00000194152	T	0.52754	0.65	4.41	1.86	0.25419	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49253	0.1546	M	0.69823	2.125	0.09310	N	1	B	0.22800	0.075	B	0.39339	0.297	T	0.50294	-0.8845	9	0.15066	T	0.55	.	6.5705	0.22535	0.5632:0.2349:0.0:0.2018	.	303	Q9Y5E5	PCDB4_HUMAN	E	303	ENSP00000194152:K303E	ENSP00000194152:K303E	K	+	1	0	PCDHB4	140482671	0.000000	0.05858	0.607000	0.28956	0.520000	0.34377	0.782000	0.26788	0.278000	0.22164	0.528000	0.53228	AAA	.	.	none		0.368	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		G	140502487	A	G	140502487	3	3	13	1	0	0	0	0	1	0	0	0	11544	247	9	2	909	2	PCDHB4	5	140502487	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	25151421	140502487	40412773	74	3138										
RBM27	54439	hgsc.bcm.edu	37	chr5	145631422	145631422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	catacctcagtctccagcccTacccctctggttccaggtaa	6	17	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:145631422T>C	ENST00000265271.5	+	9	1594	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	476					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCAGCCCTACCCCTCTGG	0.547																																					p.P476P		Atlas-SNP	.											.	RBM27	119	.	0			c.T1428C						PASS	.						246	226	232					5																	145631422		1568	3582	5150	SO:0001819	synonymous_variant	54439	exon9			CAGCCCTACCCCT	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1428T>C	5.37:g.145631422T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_018989	Q8IYW9	Silent	SNP	ENST00000265271.5	37	CCDS43378.1																																																																																			.	.	none		0.547	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		C	145631422	T	C	145631422	2	2	13	1	0	0	0	0	0	0	0	1	13127	1509	53	3		3	RBM27	5	145631422	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	5128935	145631422	35283838	75	3139										
CCDC69	26112	hgsc.bcm.edu	37	chr5	150565026	150565026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcctgtccagctcatgaataCgctcattcttcatctcgatg	7	13	5	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:150565026C>T	ENST00000355417.2	-	7	746	c.572G>A	c.(571-573)cGt>cAt	p.R191H	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	191										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATGAATACGCTCATTCTT	0.557																																					p.R191H		Atlas-SNP	.											CCDC69,NS,carcinoma,0,1	CCDC69	30	1	0			c.G572A						scavenged	.						167	151	156					5																	150565026		2203	4300	6503	SO:0001583	missense	26112	exon7			TGAATACGCTCAT		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.572G>A	5.37:g.150565026C>T	ENSP00000347586:p.Arg191His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	140	4	0.0285714	NM_015621	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714058	0.48622	.	.	ENSG00000198624	ENST00000355417	T	0.10960	2.82	4.92	4.05	0.47172	.	0.381355	0.22324	N	0.061546	T	0.08313	0.0207	N	0.21448	0.665	0.32186	N	0.579672	P	0.49559	0.925	B	0.43052	0.406	T	0.10613	-1.0622	10	0.41790	T	0.15	-8.049	9.2976	0.37824	0.0:0.828:0.0:0.172	.	191	A6NI79	CCD69_HUMAN	H	191	ENSP00000347586:R191H	ENSP00000347586:R191H	R	-	2	0	CCDC69	150545219	0.895000	0.30542	0.991000	0.47740	0.864000	0.49448	1.612000	0.36889	1.206000	0.43276	-0.379000	0.06801	CGT	.	.	none		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		T	150565026	C	T	150565026	3	4	13	1	0	0	0	0	1	0	0	0	2841	536	19	1	330	1	CCDC69	5	150565026	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	4933604	150565026	30350234	76	3140										
HAVCR1	26762	hgsc.bcm.edu	37	chr5	156479571	156479571	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttgtcgttggaacagtcgtCattggaacagtcgttgtcgt	13	7	1	0	rs6149307|rs386693994|rs183130208|rs141023871	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:156479571C>T	ENST00000339252.3	-	3	1006	c.474G>A	c.(472-474)atG>atA	p.M158I	HAVCR1_ENST00000522693.1_Missense_Mutation_p.M158I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.M158I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.M158I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.M158I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAACAGTCGTCATTGGAACAG	0.488																																					p.M158I		Atlas-SNP	.											.	HAVCR1	84	.	0			c.G474A						PASS	.						413	302	340					5																	156479571		2079	3991	6070	SO:0001583	missense	26762	exon4			AGTCGTCATTGGA	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.474G>A	5.37:g.156479571C>T	ENSP00000344844:p.Met158Ile	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	437	23	0.0526316	NM_001099414	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	2.575	-0.298775	0.05532	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.13901	2.55;2.6;2.6;2.55;2.6;2.57	1.56	-3.12	0.05282	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31392	-0.9945	7	0.62326	D	0.03	.	0.1239	0.00067	0.2901:0.1916:0.1631:0.3551	.	.	.	.	I	158	ENSP00000428524:M158I;ENSP00000427898:M158I;ENSP00000344844:M158I;ENSP00000403333:M158I;ENSP00000440258:M158I;ENSP00000428422:M158I	ENSP00000344844:M158I	M	-	3	0	HAVCR1	156412149	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.878000	0.28126	-1.479000	0.01867	-0.507000	0.04495	ATG	.	.	weak		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			T	156479571	C	T	156479571	3	4	13	1	0	0	0	0	1	0	0	0	6973	826	29	2	644	2	HAVCR1	5	156479571	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	5914545	156479571	24435689	77	3141										
HAVCR1	26762	hgsc.bcm.edu	37	chr5	156479583	156479583	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acagtcgtcattggaacagtCgttgtcgttggaacagtggt	13	7	1	0	rs192652646	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:156479583C>G	ENST00000339252.3	-	3	994	c.462G>C	c.(460-462)acG>acC	p.T154T	HAVCR1_ENST00000522693.1_Silent_p.T154T|HAVCR1_ENST00000425854.1_Silent_p.T154T|HAVCR1_ENST00000544197.1_Silent_p.T154T|HAVCR1_ENST00000523175.1_Silent_p.T154T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTTGTCGTTG	0.473																																					p.T154T		Atlas-SNP	.											HAVCR1,colon,carcinoma,-1,2	HAVCR1	84	2	0			c.G462C						scavenged	.						511	502	505					5																	156479583		2137	4231	6368	SO:0001819	synonymous_variant	26762	exon4			AACAGTCGTTGTC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.462G>C	5.37:g.156479583C>G		Somatic	375	11	0.0293333		WXS	Illumina HiSeq	Phase_I	444	15	0.0337838	NM_001099414	O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																			C|0.981;G|0.019	0.019	strong		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			G	156479583	C	G	156479583	2	3	13	1	0	0	0	0	0	0	0	1	6973	871	31	4		4	HAVCR1	5	156479583	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	12	156479583	24435677	78	3142										
STK10	6793	hgsc.bcm.edu	37	chr5	171482633	171482633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctcagctgcgctgcccccgcCgttgatgtggaggctcttct	12	15	3	1	rs115040416	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr5:171482633C>T	ENST00000176763.5	-	16	2828	c.2485G>A	c.(2485-2487)Ggc>Agc	p.G829S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	829	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.G829S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCCCCCGCCGTTGATGTGG	0.642													C|||	3	0.000599042	0.0	0.0	5008	,	,		15696	0.003		0.0	False		,,,				2504	0.0				p.G829S		Atlas-SNP	.											STK10,NS,carcinoma,0,1	STK10	100	1	1	Substitution - Missense(1)	lung(1)	c.G2485A						scavenged	.						36	30	32					5																	171482633		2203	4300	6503	SO:0001583	missense	6793	exon16			CCCCGCCGTTGAT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2485G>A	5.37:g.171482633C>T	ENSP00000176763:p.Gly829Ser	Somatic	281	1	0.00355872		WXS	Illumina HiSeq	Phase_I	303	3	0.00990099	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105396	0.01828	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.27402	1.67	5.23	5.23	0.72850	.	0.196000	0.44097	D	0.000485	T	0.11623	0.0283	N	0.02368	-0.58	0.24492	N	0.99429	B	0.24186	0.099	B	0.27380	0.079	T	0.20672	-1.0268	10	0.02654	T	1	.	12.084	0.53688	0.0:0.8265:0.1735:0.0	.	829	O94804	STK10_HUMAN	S	829	ENSP00000176763:G829S	ENSP00000176763:G829S	G	-	1	0	STK10	171415238	0.409000	0.25368	0.167000	0.22817	0.109000	0.19521	1.104000	0.31074	2.455000	0.83008	0.561000	0.74099	GGC	C|0.990;T|0.010	0.010	strong		0.642	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		T	171482633	C	T	171482633	3	4	13	1	0	0	0	0	1	0	0	0	15285	652	23	1	437	1	STK10	5	171482633	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	15003050	171482633	9432627	79	3143										
PRPF4B	8899	hgsc.bcm.edu	37	chr6	4058968	4058968	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttttgttttgtagatgattCgaaaaggtgtgttcaaagat	11	2	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:4058968C>T	ENST00000337659.6	+	14	2840	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R900*|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	914	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R403*(1)|p.R914*(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGATGATTCGAAAAGGTGT	0.294																																					p.R914X		Atlas-SNP	.											PRPF4B_ENST00000337659,rectum,carcinoma,0,2	PRPF4B	140	2	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2740T						scavenged	.						50	49	50					6																	4058968		2203	4298	6501	SO:0001587	stop_gained	8899	exon14			ATGATTCGAAAAG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2740C>T	6.37:g.4058968C>T	ENSP00000337194:p.Arg914*	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570608	0.96540	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.93	3.95	0.45737	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6523	0.85219	0.2478:0.7521:0.0:0.0	.	.	.	.	X	914;900	.	ENSP00000337194:R914X	R	+	1	2	PRPF4B	4003967	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.723000	0.47277	1.472000	0.48140	0.655000	0.94253	CGA	.	.	none		0.294	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			T	4058968	C	T	4058968	4	4	13	1	0	0	0	0	0	1	0	0	12573	876	31	1	2794	1	PRPF4B	6	4058968	Nonsense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10		4058968	167056099	80	3144										
NUP153	9972	hgsc.bcm.edu	37	chr6	17706506	17706506	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccgcggcgtcggggtcccatAcctgatgctgttgtcgcccc	13	16	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:17706506A>T	ENST00000262077.2	-	1	111		c.e1+1		NUP153_ENST00000537253.1_Splice_Site|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGGGTCCCATACCTGATGCTG	0.716																																					.		Atlas-SNP	.											.	NUP153	116	.	0			c.111+2T>A						PASS	.						59	49	52					6																	17706506		2200	4299	6499	SO:0001630	splice_region_variant	9972	exon2			TCCCATACCTGAT	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.111+1T>A	6.37:g.17706506A>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	37	11	0.297297	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Splice_Site	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.898108	0.33535	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4521	0.38731	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP153	17814485	1.000000	0.71417	0.977000	0.42913	0.328000	0.28507	2.201000	0.42734	2.006000	0.58801	0.482000	0.46254	.	.	.	none		0.716	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		Intron	T	17706506	A	T	17706506	5	4	13	1	0	0	0	0	0	0	1	0	10755	405	14	5	4402	5	NUP153	6	17706506	Splice_Site	SNP	A	TCGA-FF-8046-01A-11D-2210-10	13647538	17706506	153408561	81	3145										
HIST1H2AC	8334	hgsc.bcm.edu	37	chr6	26124688	26124688	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcggctcgcgacaacaagaaGactcgcatcatcccgcgcca	10	16	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:26124688G>A	ENST00000602637.1	+	1	258	c.228G>A	c.(226-228)aaG>aaA	p.K76K	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Silent_p.K76K|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	76						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						ACAACAAGAAGACTCGCATCA	0.657																																					p.K76K		Atlas-SNP	.											.	HIST1H2AC	29	.	0			c.G228A						PASS	.						97	94	95					6																	26124688		2203	4300	6503	SO:0001819	synonymous_variant	8334	exon1			CAAGAAGACTCGC	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.228G>A	6.37:g.26124688G>A		Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	265	59	0.222642	NM_003512	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Silent	SNP	ENST00000602637.1	37	CCDS4585.1																																																																																			.	.	none		0.657	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		A	26124688	G	A	26124688	2	1	13	1	0	0	0	0	0	0	0	1	7130	933	33	2		2	HIST1H2AC	6	26124688	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	8418182	26124688	144990379	82	3146										
GRM4	2914	hgsc.bcm.edu	37	chr6	34004150	34004150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggcgagccccactcaagcttGatgatggggatgggccggca	16	11	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:34004150G>C	ENST00000538487.2	-	9	2180	c.1737C>G	c.(1735-1737)atC>atG	p.I579M	GRM4_ENST00000609222.1_Missense_Mutation_p.I446M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.I446M|GRM4_ENST00000544773.2_Missense_Mutation_p.I410M|GRM4_ENST00000455714.2_Missense_Mutation_p.I439M|GRM4_ENST00000374181.4_Missense_Mutation_p.I579M|GRM4_ENST00000374177.3_Missense_Mutation_p.I463M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	579					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTCAAGCTTGATGATGGGGA	0.632																																					p.I579M		Atlas-SNP	.											.	GRM4	317	.	0			c.C1737G						PASS	.						47	45	46					6																	34004150		2203	4300	6503	SO:0001583	missense	2914	exon9			AAGCTTGATGATG	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1737C>G	6.37:g.34004150G>C	ENSP00000440556:p.Ile579Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	79	15	0.189873	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376436	0.24857	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88201	-2.35;-2.34;-2.1;-2.14;-2.17;-2.35;-2.18	4.81	2.11	0.27256	.	0.230082	0.44483	D	0.000446	D	0.84880	0.5570	M	0.76328	2.33	0.29060	N	0.883982	B;P;P;P;P	0.44344	0.447;0.58;0.773;0.664;0.833	B;B;P;B;B	0.48840	0.326;0.39;0.592;0.216;0.438	T	0.78899	-0.2022	10	0.49607	T	0.09	.	9.8402	0.40993	0.2272:0.0:0.7728:0.0	.	532;410;439;579;446	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	M	579;463;271;446;410;579;439	ENSP00000363296:I579M;ENSP00000363292:I463M;ENSP00000445533:I271M;ENSP00000437925:I446M;ENSP00000437730:I410M;ENSP00000440556:I579M;ENSP00000398456:I439M	ENSP00000363292:I463M	I	-	3	3	GRM4	34112128	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	1.355000	0.34068	0.259000	0.21709	-0.480000	0.04831	ATC	.	.	none		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			C	34004150	G	C	34004150	3	2	13	1	0	0	0	0	1	0	0	0	6799	1280	45	4	1013	4	GRM4	6	34004150	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	7879462	34004150	137110917	83	3147										
TMEM63B	55362	hgsc.bcm.edu	37	chr6	44116674	44116674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acgtcaccaagcctgtggagTacctcaacgtgaggcctcat	10	13	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:44116674T>C	ENST00000259746.9	+	15	1588	c.1405T>C	c.(1405-1407)Tac>Cac	p.Y469H	TMEM63B_ENST00000323267.6_Missense_Mutation_p.Y469H			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	469					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCTGTGGAGTACCTCAACGT	0.562																																					p.Y469H		Atlas-SNP	.											TMEM63B,NS,carcinoma,-1,1	TMEM63B	77	1	0			c.T1405C						scavenged	.						265	186	213					6																	44116674		2203	4300	6503	SO:0001583	missense	55362	exon15			GTGGAGTACCTCA	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1405T>C	6.37:g.44116674T>C	ENSP00000259746:p.Tyr469His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	177	4	0.0225989	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562061	0.45590	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.28454	1.61;1.61	4.48	4.48	0.54585	Domain of unknown function DUF221 (1);	0.065002	0.64402	D	0.000005	T	0.36936	0.0985	M	0.72118	2.19	0.34892	D	0.745625	D;D	0.69078	0.958;0.997	P;P	0.62649	0.905;0.885	T	0.26395	-1.0104	10	0.24483	T	0.36	.	13.1166	0.59303	0.0:0.0:0.0:1.0	.	469;469	Q5T3F8;Q5T3F8-2	TM63B_HUMAN;.	H	469	ENSP00000259746:Y469H;ENSP00000327154:Y469H	ENSP00000259746:Y469H	Y	+	1	0	TMEM63B	44224652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.681000	0.61663	1.880000	0.54463	0.482000	0.46254	TAC	.	.	none		0.562	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		C	44116674	T	C	44116674	3	2	13	1	0	0	0	0	1	0	0	0	16188	1638	57	2	1459	2	TMEM63B	6	44116674	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	10112524	44116674	126998393	84	3148										
SLC29A1	2030	hgsc.bcm.edu	37	chr6	44197393	44197393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgctgaactgagcaaggacgCccaggcgtcagccgcccctg	13	15	1	2	rs201335180		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:44197393C>T	ENST00000393841.1	+	5	670	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC29A1_ENST00000313248.7_Missense_Mutation_p.A139V|SLC29A1_ENST00000371755.3_Missense_Mutation_p.A60V|SLC29A1_ENST00000371713.1_Missense_Mutation_p.A60V|SLC29A1_ENST00000427851.2_Missense_Mutation_p.A60V|SLC29A1_ENST00000371724.1_Missense_Mutation_p.A60V|SLC29A1_ENST00000371731.1_Missense_Mutation_p.A60V|SLC29A1_ENST00000371708.1_Missense_Mutation_p.A60V|SLC29A1_ENST00000371740.5_Missense_Mutation_p.A60V|SLC29A1_ENST00000393844.1_Missense_Mutation_p.A60V|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	60					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	AGCAAGGACGCCCAGGCGTCA	0.562																																					p.A60V		Atlas-SNP	.											SLC29A1,NS,carcinoma,+1,1	SLC29A1	45	1	0			c.C179T						scavenged	.						122	117	119					6																	44197393		2203	4300	6503	SO:0001583	missense	2030	exon4			AGGACGCCCAGGC	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.179C>T	6.37:g.44197393C>T	ENSP00000377424:p.Ala60Val	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	143	2	0.013986	NM_004955	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887316	0.17540	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	4.95	-5.52	0.02560	.	.	.	.	.	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.13594	0.0;0.008;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.45877	-0.9231	9	0.13853	T	0.58	-27.6775	8.719	0.34430	0.1383:0.6105:0.0:0.2512	.	60;79;139;60	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	V	79;60;139;60;60;60;60;60;60;60;60	ENSP00000377427:A60V;ENSP00000319152:A139V;ENSP00000392668:A60V;ENSP00000360820:A60V;ENSP00000360805:A60V;ENSP00000360796:A60V;ENSP00000377424:A60V;ENSP00000360789:A60V;ENSP00000360778:A60V;ENSP00000360773:A60V	ENSP00000319152:A139V	A	+	2	0	SLC29A1	44305371	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.215000	0.09279	-0.707000	0.05022	-0.471000	0.05019	GCC	C|0.999;T|0.001	0.001	weak		0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			T	44197393	C	T	44197393	3	4	13	1	0	0	0	0	1	0	0	0	14534	739	26	2	189	2	SLC29A1	6	44197393	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	80719	44197393	126917674	85	3149										
TMEM30A	55754	hgsc.bcm.edu	37	chr6	75969072	75969072	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	taatgttttacctttaaatcGttcttccaggttgtctcctc	5	10	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:75969072G>A	ENST00000230461.6	-	5	1005	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.R190*|TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.R107*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	226					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R226*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTAAATCGTTCTTCCAGG	0.308																																					p.R226X		Atlas-SNP	.											TMEM30A,caecum,carcinoma,0,2	TMEM30A	40	2	1	Substitution - Nonsense(1)	lung(1)	c.C676T						PASS	.						74	79	77					6																	75969072		2203	4298	6501	SO:0001587	stop_gained	55754	exon5			TAAATCGTTCTTC	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.676C>T	6.37:g.75969072G>A	ENSP00000230461:p.Arg226*	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	140	51	0.364286	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Nonsense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	39	7.311733	0.98203	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.51	2.43	0.29744	.	0.572479	0.17857	N	0.159668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	10.4926	0.44760	0.0:0.1178:0.5054:0.3768	.	.	.	.	X	226;210;107;190	.	ENSP00000230461:R226X	R	-	1	2	TMEM30A	76025792	0.004000	0.15560	1.000000	0.80357	0.933000	0.57130	0.839000	0.27586	0.724000	0.32296	0.655000	0.94253	CGA	.	.	none		0.308	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		A	75969072	G	A	75969072	4	1	13	1	0	0	0	0	0	1	0	0	16150	1153	40	1	421	1	TMEM30A	6	75969072	Nonsense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	31771679	75969072	95145995	86	3150										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152737804	152737804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaatgccatccagactgacgGcagcagattctaatgcttta	9	10	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:152737804G>A	ENST00000367255.5	-	41	6369	c.5768C>T	c.(5767-5769)gCc>gTc	p.A1923V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A1923V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1930V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1930V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1960V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1923					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGACTGACGGCAGCAGATTC	0.453										HNSCC(10;0.0054)																											p.A1930V		Atlas-SNP	.											SYNE1_ENST00000423061,NS,carcinoma,+1,3	SYNE1	3227	3	0			c.C5789T						scavenged	.						107	103	104					6																	152737804		2203	4300	6503	SO:0001583	missense	23345	exon41			CTGACGGCAGCAG	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5768C>T	6.37:g.152737804G>A	ENSP00000356224:p.Ala1923Val	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	268	3	0.011194	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449779	0.43531	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.58797	0.39;0.41;0.31;0.32;0.4	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.67627	0.2913	M	0.69823	2.125	0.80722	D	1	D;D;D;P	0.71674	0.998;0.966;0.966;0.708	P;B;B;B	0.59703	0.862;0.437;0.437;0.251	T	0.60850	-0.7181	10	0.30854	T	0.27	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1906;1923;1923;1930	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	1923;1930;1923;1930;1960	ENSP00000356224:A1923V;ENSP00000396024:A1930V;ENSP00000265368:A1923V;ENSP00000390975:A1930V;ENSP00000341887:A1960V	ENSP00000265368:A1923V	A	-	2	0	SYNE1	152779497	1.000000	0.71417	0.288000	0.24862	0.006000	0.05464	6.539000	0.73856	2.885000	0.99019	0.655000	0.94253	GCC	.	.	none		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152737804	G	A	152737804	3	1	13	1	0	0	0	0	1	0	0	0	15442	1203	42	2	21122	2	SYNE1	6	152737804	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	76768732	152737804	18377263	87	3151										
TULP4	56995	hgsc.bcm.edu	37	chr6	158922767	158922767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttgtaccgtgaacatccctaTtgcaccgatccacagctcgg	8	14	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:158922767T>C	ENST00000367097.3	+	13	3429	c.2072T>C	c.(2071-2073)aTt>aCt	p.I691T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	691					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACATCCCTATTGCACCGATC	0.522																																					p.I691T		Atlas-SNP	.											TULP4,NS,carcinoma,0,1	TULP4	137	1	0			c.T2072C						scavenged	.						130	114	119					6																	158922767		2203	4300	6503	SO:0001583	missense	56995	exon13			TCCCTATTGCACC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2072T>C	6.37:g.158922767T>C	ENSP00000356064:p.Ile691Thr	Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	237	3	0.0126582	NM_020245	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854335	0.91355	.	.	ENSG00000130338	ENST00000367097	T	0.69175	-0.38	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79242	-0.1884	10	0.87932	D	0	-26.7153	16.0357	0.80628	0.0:0.0:0.0:1.0	.	691	Q9NRJ4	TULP4_HUMAN	T	691	ENSP00000356064:I691T	ENSP00000356064:I691T	I	+	2	0	TULP4	158842755	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	7.476000	0.81055	2.192000	0.70111	0.528000	0.53228	ATT	.	.	none		0.522	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		C	158922767	T	C	158922767	3	2	13	1	0	0	0	0	1	0	0	0	16773	1493	52	2	2122	2	TULP4	6	158922767	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	6184963	158922767	12192300	88	3152										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627767	170627767	+	Missense_Mutation	SNP	A	A	G													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agaagttcccatgtatacagActctgaacccaggcaagaag					rs6900202	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:170627767A>G	ENST00000476287.1	+	2	1397	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	430			D -> G (in dbSNP:rs6900202).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATGTATACAGACTCTGAACCC	0.512													G|||	41	0.0081869	0.0045	0.0101	5008	,	,		20771	0.0109		0.004	False		,,,				2504	0.0133				p.D430G		Atlas-SNP	.											FAM120B,NS,carcinoma,0,1	FAM120B	108	1	0			c.A1289G						scavenged	.						184	201	195					6																	170627767		2203	4299	6502	SO:0001583	missense	84498	exon2			ATACAGACTCTGA	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1289A>G	6.37:g.170627767A>G	ENSP00000417970:p.Asp430Gly	Somatic	88	6	0.0681818		WXS	Illumina HiSeq	Phase_I	113	10	0.0884956	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	2.701	-0.271073	0.05716	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08370	3.1;3.12;3.13	3.07	-3.74	0.04385	.	1.370640	0.04162	N	0.323276	T	0.01870	0.0059	L	0.55481	1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44467	-0.9326	10	0.20046	T	0.44	0.676	1.4566	0.02387	0.3827:0.1471:0.3256:0.1447	rs6900202	430;430	Q96EK7;F2Z2E1	F120B_HUMAN;.	G	442;453;430	ENSP00000444125:D442G;ENSP00000440125:D453G;ENSP00000417970:D430G	ENSP00000436640:D430G	D	+	2	0	FAM120B	170469692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.870000	0.04047	-2.164000	0.00325	GAC	A|1.000;|0.000	.	weak		0.512	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627767	A	G	170627767	3	3	13	1	0	0	0	0	1	0	0	0	5417	275	10	2	1291	2	FAM120B	6	170627767	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	11705000	170627767	487300	89	3153	57	3								
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627769	170627769	+	Missense_Mutation	SNP	T	T	C													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aagttcccatgtatacagacTctgaacccaggcaagaagtt					rs6905610	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:170627769T>C	ENST00000476287.1	+	2	1399	c.1291T>C	c.(1291-1293)Tct>Cct	p.S431P	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.S454P|FAM120B_ENST00000540480.1_Missense_Mutation_p.S443P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	431			S -> P (in dbSNP:rs6905610).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTATACAGACTCTGAACCCAG	0.507													C|||	41	0.0081869	0.0045	0.0101	5008	,	,		20133	0.0109		0.004	False		,,,				2504	0.0133				p.S431P		Atlas-SNP	.											FAM120B,colon,carcinoma,0,1	FAM120B	108	1	0			c.T1291C						scavenged	.						184	201	195					6																	170627769		2203	4299	6502	SO:0001583	missense	84498	exon2			ACAGACTCTGAAC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1291T>C	6.37:g.170627769T>C	ENSP00000417970:p.Ser431Pro	Somatic	86	5	0.0581395		WXS	Illumina HiSeq	Phase_I	112	9	0.0803571	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.780159	0.00634	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.09630	3.01;2.96;2.96	3.07	-3.94	0.04130	.	0.566372	0.19678	N	0.108600	T	0.00384	0.0012	N	0.00159	-1.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20009	-1.0288	10	0.02654	T	1	-0.3731	6.5921	0.22651	0.0:0.5063:0.2428:0.2509	rs6905610	431;431	Q96EK7;F2Z2E1	F120B_HUMAN;.	P	443;454;431	ENSP00000444125:S443P;ENSP00000440125:S454P;ENSP00000417970:S431P	ENSP00000436640:S431P	S	+	1	0	FAM120B	170469694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.160000	0.01279	-1.079000	0.03113	-0.734000	0.03567	TCT	T|0.985;C|0.015	0.015	weak		0.507	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		C	170627769	T	C	170627769	3	2	13	1	0	0	0	0	1	0	0	0	5417	1551	54	3	1293	3	FAM120B	6	170627769	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	2	170627769	487298	90	3154	57	3								
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627775	170627775	+	Missense_Mutation	SNP	C	C	G													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccatgtatacagactctgaaCccaggcaagaagttcccatg					rs6934830	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr6:170627775C>G	ENST00000476287.1	+	2	1405	c.1297C>G	c.(1297-1299)Ccc>Gcc	p.P433A	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P456A|FAM120B_ENST00000540480.1_Missense_Mutation_p.P445A	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	433			P -> A (in dbSNP:rs6934830).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGACTCTGAACCCAGGCAAGA	0.498																																					p.P433A		Atlas-SNP	.											FAM120B,colon,carcinoma,0,1	FAM120B	108	1	0			c.C1297G						scavenged	.						182	201	194					6																	170627775		2203	4299	6502	SO:0001583	missense	84498	exon2			TCTGAACCCAGGC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1297C>G	6.37:g.170627775C>G	ENSP00000417970:p.Pro433Ala	Somatic	81	2	0.0246914		WXS	Illumina HiSeq	Phase_I	112	4	0.0357143	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.794388	0.00077	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08720	3.06;3.09;3.1	3.07	-6.14	0.02111	.	2.097720	0.01397	N	0.013442	T	0.01353	0.0044	L	0.29908	0.895	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.12156	0.007;0.007	T	0.35251	-0.9796	10	0.24483	T	0.36	1.0923	4.696	0.12804	0.3085:0.3177:0.0:0.3738	rs6934830	433;433	Q96EK7;F2Z2E1	F120B_HUMAN;.	A	445;456;433	ENSP00000444125:P445A;ENSP00000440125:P456A;ENSP00000417970:P433A	ENSP00000436640:P433A	P	+	1	0	FAM120B	170469700	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.335000	0.00508	-2.968000	0.00287	-2.448000	0.00209	CCC	C|0.712;G|0.288	0.288	strong		0.498	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627775	C	G	170627775	3	3	13	1	0	0	0	0	1	0	0	0	5417	507	18	4	1299	4	FAM120B	6	170627775	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	6	170627775	487292	91	3155	57	3								
TMEM184A	202915	hgsc.bcm.edu	37	chr7	1590488	1590488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcacagagtcgaagtagacgTagtactggtggtctccgagg	15	8	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:1590488T>C	ENST00000297477.5	-	3	666	c.350A>G	c.(349-351)tAc>tGc	p.Y117C		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	117					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAAGTAGACGTAGTACTGGTG	0.647																																					p.Y117C		Atlas-SNP	.											.	TMEM184A	35	.	0			c.A350G						PASS	.						82	89	87					7																	1590488		2203	4300	6503	SO:0001583	missense	202915	exon3			TAGACGTAGTACT		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.350A>G	7.37:g.1590488T>C	ENSP00000297477:p.Tyr117Cys	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	4	0.0645161	NM_001097620	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114546	0.77210	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.49139	1.42;0.84;0.79;0.81;0.81	5.03	5.03	0.67393	.	0.000000	0.85682	U	0.000000	T	0.73466	0.3590	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.79240	-0.1885	10	0.54805	T	0.06	0.0726	14.7478	0.69501	0.0:0.0:0.0:1.0	.	117	Q6ZMB5	T184A_HUMAN	C	117	ENSP00000297477:Y117C;ENSP00000325945:Y117C;ENSP00000398382:Y117C;ENSP00000389092:Y117C;ENSP00000403499:Y117C	ENSP00000297477:Y117C	Y	-	2	0	TMEM184A	1557014	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.869000	0.87170	1.891000	0.54761	0.334000	0.21626	TAC	.	.	none		0.647	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		C	1590488	T	C	1590488	3	2	13	1	0	0	0	0	1	0	0	0	16101	1638	57	2	919	2	TMEM184A	7	1590488	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10		1590488	157548175	92	3156										
FKBP9	11328	hgsc.bcm.edu	37	chr7	33014897	33014897	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cacacctatttcaagcccccGagttgccctcggaccatcca	6	18	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:33014897G>A	ENST00000242209.4	+	3	640	c.471G>A	c.(469-471)ccG>ccA	p.P157P	FKBP9_ENST00000538336.1_Silent_p.P210P|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.P19P	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	157					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TCAAGCCCCCGAGTTGCCCTC	0.483																																					p.P157P		Atlas-SNP	.											FKBP9,brain,glioma,+1,9	FKBP9	335	9	0			c.G471A						scavenged	.						100	90	93					7																	33014897		2203	4300	6503	SO:0001819	synonymous_variant	11328	exon3			GCCCCCGAGTTGC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.471G>A	7.37:g.33014897G>A		Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	135	43	0.318519	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	CCDS5439.1																																																																																			.	.	none		0.483	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33014897	G	A	33014897	2	1	13	1	0	0	0	0	0	0	0	1	5915	1045	37	1		1	FKBP9	7	33014897	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	31424409	33014897	126123766	93	3157										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47873941	47873941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ataatgattgatttaccttgCgtggctcctgtgcgtctggt	11	8	1	2	rs17131834	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:47873941C>T	ENST00000289672.2	-	40	6220	c.6170G>A	c.(6169-6171)cGc>cAc	p.R2057H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2057			R -> H (in dbSNP:rs17131834).		detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTTACCTTGCGTGGCTCCTG	0.428													C|||	98	0.0195687	0.0696	0.0072	5008	,	,		21422	0.001		0.0	False		,,,				2504	0.0				p.R2057H		Atlas-SNP	.											.	PKD1L1	328	.	0			c.G6170A						PASS	.	C	HIS/ARG	203,4203	125.3+/-162.5	6,191,2006	144	128	134		6170	-7.9	0	7	dbSNP_123	134	0,8600		0,0,4300	yes	missense	PKD1L1	NM_138295.3	29	6,191,6306	TT,TC,CC		0.0,4.6074,1.5608	benign	2057/2850	47873941	203,12803	2203	4300	6503	SO:0001583	missense	168507	exon40			ACCTTGCGTGGCT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6170G>A	7.37:g.47873941C>T	ENSP00000289672:p.Arg2057His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	37	0.01694139194139194	32	0.06504065040650407	4	0.011049723756906077	1	0.0017482517482517483	0	0.0	C	3.158	-0.172750	0.06421	0.046074	0.0	ENSG00000158683	ENST00000289672	T	0.19669	2.13	3.93	-7.87	0.01183	.	2749.160000	0.00357	U	0.000035	T	0.00724	0.0024	N	0.22421	0.69	0.09310	N	1	B	0.31077	0.307	B	0.20384	0.029	T	0.06534	-1.0821	10	0.15499	T	0.54	.	8.1002	0.30852	0.0:0.1383:0.574:0.2877	rs17131834	2057	Q8TDX9	PK1L1_HUMAN	H	2057	ENSP00000289672:R2057H	ENSP00000289672:R2057H	R	-	2	0	PKD1L1	47840466	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.982000	0.03762	-2.060000	0.00893	-0.369000	0.07265	CGC	C|0.978;T|0.022	0.022	strong		0.428	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47873941	C	T	47873941	3	4	13	1	0	0	0	0	1	0	0	0	11964	768	27	1	2451	1	PKD1L1	7	47873941	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	14859044	47873941	111264722	94	3158										
GTF2I	2969	hgsc.bcm.edu	37	chr7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tttcagacatgagcttctgaAttcaacacgtgaagatttac	7	8	3	5			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358																																					p.N440S		Atlas-SNP	.											GTF2I,NS,carcinoma,0,7	GTF2I	40	7	7	Substitution - Missense(7)	endometrium(7)	c.A1319G						scavenged	.						111	102	105					7																	74148279		2201	4300	6501	SO:0001583	missense	2969	exon16			TTCTGAATTCAAC	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1319A>G	7.37:g.74148279A>G	ENSP00000322542:p.Asn440Ser	Somatic	309	3	0.00970874		WXS	Illumina HiSeq	Phase_I	308	6	0.0194805	NM_032999	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085752	0.55861	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.35236	1.34;1.32;1.32;1.32	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	T	0.40670	0.1126	N	0.16368	0.405	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.971;0.99;0.998;0.982	D;P;D;D;D	0.76071	0.97;0.717;0.979;0.987;0.952	T	0.31052	-0.9957	10	0.45353	T	0.12	-19.2887	11.2081	0.48782	1.0:0.0:0.0:0.0	.	418;399;420;419;440	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	440;435;420;419;399	ENSP00000322542:N440S;ENSP00000322671:N420S;ENSP00000322599:N419S;ENSP00000387651:N399S	ENSP00000322542:N440S	N	+	2	0	GTF2I	73786215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.703000	0.54808	1.839000	0.53478	0.477000	0.44152	AAT	.	.	weak		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		G	74148279	A	G	74148279	3	3	13	1	0	0	0	0	1	0	0	0	6867	101	4	2	1377	2	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	26274338	74148279	84990384	95	3159										
PCLO	27445	hgsc.bcm.edu	37	chr7	82584184	82584184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gataaaagagcttgaaacaaTatcttcctgaggcacaacag	8	8	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:82584184T>C	ENST00000333891.9	-	5	6422	c.6085A>G	c.(6085-6087)Att>Gtt	p.I2029V	PCLO_ENST00000423517.2_Missense_Mutation_p.I2029V	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						CTTGAAACAATATCTTCCTGA	0.378																																					p.I2029V		Atlas-SNP	.											Q9Y6V0-3,colon,carcinoma,+1,3	PCLO	1506	3	0			c.A6085G						scavenged	.						69	67	67					7																	82584184		1845	4091	5936	SO:0001583	missense	27445	exon5			AAACAATATCTTC	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.6085A>G	7.37:g.82584184T>C	ENSP00000334319:p.Ile2029Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	180	3	0.0166667	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	8.220	0.802250	0.16397	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.64	4.49	0.54785	.	.	.	.	.	T	0.18087	0.0434	L	0.51422	1.61	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15484	0.013;0.013	T	0.02208	-1.1195	9	0.87932	D	0	.	11.4939	0.50398	0.0:0.0703:0.0:0.9297	.	2029;2029	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1960;2029;2029	ENSP00000334319:I2029V;ENSP00000388393:I2029V	ENSP00000334319:I2029V	I	-	1	0	PCLO	82422120	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	3.444000	0.52914	0.971000	0.38288	0.459000	0.35465	ATT	.	.	none		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82584184	T	C	82584184	3	2	13	1	0	0	0	0	1	0	0	0	11583	1406	49	2	9444	2	PCLO	7	82584184	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	8435905	82584184	76554479	96	3160										
MUC17	140453	hgsc.bcm.edu	37	chr7	100680438	100680438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcctacaactgctgacggtaGcagcatgccaacctcaactc	7	15	1	1	rs112926140		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:100680438G>C	ENST00000306151.4	+	3	5805	c.5741G>C	c.(5740-5742)aGc>aCc	p.S1914T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	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)					GCTGACGGTAGCAGCATGCCA	0.493																																					p.S1914T		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+1,1	MUC17	804	1	0			c.G5741C						scavenged	.						249	250	250					7																	100680438		2203	4300	6503	SO:0001583	missense	140453	exon3			ACGGTAGCAGCAT	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.5741G>C	7.37:g.100680438G>C	ENSP00000302716:p.Ser1914Thr	Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	97	7	0.0721649	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.074	-1.195664	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	1.2251	0.01932	0.1506:0.3181:0.2997:0.2316	.	1914	Q685J3	MUC17_HUMAN	T	1914	ENSP00000302716:S1914T	ENSP00000302716:S1914T	S	+	2	0	MUC17	100467158	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.876000	0.04201	-3.962000	0.00087	-1.848000	0.00571	AGC	A|0.001;G|0.999	.	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680438	G	C	100680438	3	2	13	1	0	0	0	0	1	0	0	0	9974	971	34	4	5751	4	MUC17	7	100680438	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	18096254	100680438	58458225	97	3161										
HYAL4	23553	hgsc.bcm.edu	37	chr7	123516863	123516863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgatttagggagctacatagCcaatgtgaccagagctgctg	12	8	0	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:123516863C>T	ENST00000223026.4	+	5	1738	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A367V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	367					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGCTACATAGCCAATGTGACC	0.468																																					p.A367V		Atlas-SNP	.											HYAL4,right_upper_lobe,carcinoma,-1,1	HYAL4	65	1	0			c.C1100T						scavenged	.						157	147	150					7																	123516863		2203	4300	6503	SO:0001583	missense	23553	exon5			ACATAGCCAATGT	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1100C>T	7.37:g.123516863C>T	ENSP00000223026:p.Ala367Val	Somatic	185	2	0.0108108		WXS	Illumina HiSeq	Phase_I	175	3	0.0171429	NM_012269	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	1.321	-0.599373	0.03744	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17054	2.3;2.3	5.62	3.12	0.35913	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.306342	0.33217	N	0.005150	T	0.03520	0.0101	N	0.00525	-1.395	0.23421	N	0.997718	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.02654	T	1	-5.3432	8.3489	0.32290	0.0:0.0705:0.1405:0.7889	.	367	Q2M3T9	HYAL4_HUMAN	V	367	ENSP00000223026:A367V;ENSP00000417186:A367V	ENSP00000223026:A367V	A	+	2	0	HYAL4	123304099	0.142000	0.22610	1.000000	0.80357	0.478000	0.33099	1.077000	0.30741	0.493000	0.27837	-0.300000	0.09419	GCC	.	.	none		0.468	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		T	123516863	C	T	123516863	3	4	13	1	0	0	0	0	1	0	0	0	7466	739	26	2	1110	2	HYAL4	7	123516863	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	22836425	123516863	35621800	98	3162										
NRF1	4899	hgsc.bcm.edu	37	chr7	129317486	129317486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	attcaggaaacttcgagccaCgttagatgaatatactactc	7	9	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:129317486C>T	ENST00000393232.1	+	4	470	c.353C>T	c.(352-354)aCg>aTg	p.T118M	NRF1_ENST00000353868.4_Missense_Mutation_p.T118M|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000223190.4_Missense_Mutation_p.T118M|NRF1_ENST00000393231.3_Missense_Mutation_p.T118M|NRF1_ENST00000311967.2_Missense_Mutation_p.T118M|NRF1_ENST00000393230.2_Missense_Mutation_p.T118M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	118					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCGAGCCACGTTAGATGAA	0.393																																					p.T118M		Atlas-SNP	.											NRF1,NS,carcinoma,0,1	NRF1	40	1	0			c.C353T						scavenged	.						146	131	136					7																	129317486		2203	4300	6503	SO:0001583	missense	4899	exon4			GAGCCACGTTAGA	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.353C>T	7.37:g.129317486C>T	ENSP00000376924:p.Thr118Met	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	112	3	0.0267857	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566805	0.65651	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	4.87	4.87	0.63330	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.67953	2.075	0.80722	D	1	P;D	0.54207	0.88;0.965	B;P	0.44732	0.329;0.459	T	0.65631	-0.6121	9	0.44086	T	0.13	-16.1707	17.3667	0.87366	0.0:1.0:0.0:0.0	.	118;118	Q96AN2;Q16656	.;NRF1_HUMAN	M	118	.	ENSP00000223190:T118M	T	+	2	0	NRF1	129104722	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	7.343000	0.79319	2.405000	0.81733	0.603000	0.83216	ACG	.	.	none		0.393	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		T	129317486	C	T	129317486	3	4	13	1	0	0	0	0	1	0	0	0	10646	536	19	1	363	1	NRF1	7	129317486	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	5800623	129317486	29821177	99	3163										
TSGA14	95681	hgsc.bcm.edu	37	chr7	130067800	130067800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tctaatctttactcaccagtGtccagtcttgatttgatatg	6	9	4	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:130067800G>T	ENST00000223208.5	-	2	363	c.93C>A	c.(91-93)gaC>gaA	p.D31E	CEP41_ENST00000541543.1_Missense_Mutation_p.D31E|CEP41_ENST00000489512.1_Missense_Mutation_p.D31E|CEP41_ENST00000495702.1_5'UTR|CEP41_ENST00000343969.5_Missense_Mutation_p.D31E	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	31					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											ACTCACCAGTGTCCAGTCTTG	0.303																																					p.D31E		Atlas-SNP	.											.	.	.	.	0			c.C93A						PASS	.						80	79	79					7																	130067800		2203	4300	6503	SO:0001583	missense	95681	exon2			ACCAGTGTCCAGT	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.93C>A	7.37:g.130067800G>T	ENSP00000223208:p.Asp31Glu	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	64	25	0.390625	NM_001257159	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756933	0.69648	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000477003;ENST00000469826;ENST00000489512	D;D;D;D;D	0.92965	-3.14;-2.34;-3.06;-2.83;-2.61	5.68	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	M	0.82630	2.6	0.46901	D	0.999244	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.984;0.948	D	0.93213	0.6602	10	0.87932	D	0	-10.9368	6.9984	0.24795	0.3038:0.0:0.6962:0.0	.	31;31;31	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	E	31;31;31;28;18;31	ENSP00000223208:D31E;ENSP00000445888:D31E;ENSP00000342738:D31E;ENSP00000420670:D28E;ENSP00000418712:D18E	ENSP00000223208:D31E	D	-	3	2	TSGA14	129855036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.757000	0.26433	0.282000	0.22254	0.591000	0.81541	GAC	.	.	none		0.303	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		T	130067800	G	T	130067800	3	4	13	1	0	0	0	0	1	0	0	0	16617	1368	48	4	1068	4	TSGA14	7	130067800	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	750314	130067800	29070863	100	3164										
ZC3HAV1	56829	hgsc.bcm.edu	37	chr7	138732496	138732496	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtgtacgttatatttccttcAgtaaactttccaaccagaac	5	10	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:138732496A>C	ENST00000242351.5	-	13	2869	c.2553T>G	c.(2551-2553)acT>acG	p.T851T	ZC3HAV1_ENST00000464606.1_Silent_p.T973T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	851	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.		T -> I (in dbSNP:rs3735007). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.T851T(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TATTTCCTTCAGTAAACTTTC	0.428																																					p.T851T		Atlas-SNP	.											ZC3HAV1,colon,carcinoma,0,1	ZC3HAV1	75	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T2553G						scavenged	.						138	138	138					7																	138732496		2203	4300	6503	SO:0001819	synonymous_variant	56829	exon13			TCCTTCAGTAAAC	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2553T>G	7.37:g.138732496A>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																			.	.	none		0.428	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		C	138732496	A	C	138732496	2	2	13	1	0	0	0	0	0	0	0	1	17572	175	7	5		5	ZC3HAV1	7	138732496	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	8664696	138732496	20406167	101	3165										
MLL3	58508	hgsc.bcm.edu	37	chr7	151932991	151932991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcctgcacctcgaggtctccGctttcctggaaatccagacc	8	16	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr7:151932991G>A	ENST00000262189.6	-	16	2898	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGAGGTCTCCGCTTTCCTGGA	0.507																																					p.R894W		Atlas-SNP	.											MLL3_ENST00000355193,NS,malignant_melanoma,+2,4	MLL3	1564	4	0			c.C2680T						scavenged	.						32	34	33					7																	151932991		2203	4295	6498	SO:0001583	missense	58508	exon16			GTCTCCGCTTTCC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2680C>T	7.37:g.151932991G>A	ENSP00000262189:p.Arg894Trp	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	192	6	0.03125	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.896744|2.896744	0.52121|0.52121	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.89875	.|-2.57;-2.58	5.1|5.1	2.1|2.1	0.27182|0.27182	.|.	.|0.000000	.|0.42294	.|D	.|0.000721	D|D	0.91952|0.91952	0.7451|0.7451	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	D|D	0.91065|0.91065	0.4888|0.4888	5|10	.|0.87932	.|D	.|0	.|.	9.9957|9.9957	0.41898|0.41898	0.0:0.1323:0.5941:0.2736|0.0:0.1323:0.5941:0.2736	.|.	.|894	.|Q8NEZ4	.|MLL3_HUMAN	V|W	49|894	.|ENSP00000262189:R894W;ENSP00000347325:R894W	.|ENSP00000262189:R894W	A|R	-|-	2|1	0|2	MLL3|MLL3	151563924|151563924	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.946000|0.946000	0.59487|0.59487	2.043000|2.043000	0.41231|0.41231	0.653000|0.653000	0.30826|0.30826	-0.885000|-0.885000	0.02943|0.02943	GCG|CGG	.	.	none		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151932991	G	A	151932991	3	1	13	1	0	0	0	0	1	0	0	0	9622	1086	38	1	12231	1	MLL3	7	151932991	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	13200495	151932991	7205672	102	3166										
MTMR7	9108	hgsc.bcm.edu	37	chr8	17206499	17206499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agtaagaaaggacaggaaatCgccgtctactccggaatttg	11	8	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:17206499C>T	ENST00000180173.5	-	5	594	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MTMR7_ENST00000521857.1_Missense_Mutation_p.R187Q|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	187	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GACAGGAAATCGCCGTCTACT	0.433																																					p.R187Q		Atlas-SNP	.											MTMR7,NS,carcinoma,0,1	MTMR7	75	1	0			c.G560A						scavenged	.						135	129	131					8																	17206499		2203	4300	6503	SO:0001583	missense	9108	exon5			GGAAATCGCCGTC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.560G>A	8.37:g.17206499C>T	ENSP00000180173:p.Arg187Gln	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	71	3	0.0422535	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516652	0.96402	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.98135	-4.74;-4.74	5.24	5.24	0.73138	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.99286	4.5	0.80722	D	1	D	0.76494	0.999	P	0.59288	0.855	D	0.98623	1.0668	10	0.87932	D	0	.	19.719	0.96135	0.0:1.0:0.0:0.0	.	187	Q9Y216	MTMR7_HUMAN	Q	187	ENSP00000180173:R187Q;ENSP00000429733:R187Q	ENSP00000180173:R187Q	R	-	2	0	MTMR7	17250870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.364000	0.79526	2.828000	0.97474	0.655000	0.94253	CGA	.	.	none		0.433	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		T	17206499	C	T	17206499	3	4	13	1	0	0	0	0	1	0	0	0	9948	884	31	1	1462	1	MTMR7	8	17206499	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10		17206499	129157523	103	3167										
LGI3	203190	hgsc.bcm.edu	37	chr8	22005779	22005779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caggcatgtagcagaaggccCgaggagcctgcacagccagc	14	13	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:22005779C>T	ENST00000306317.2	-	8	1830	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LGI3_ENST00000424267.2_Missense_Mutation_p.R490Q	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	514					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAGAAGGCCCGAGGAGCCTG	0.582																																					p.R514Q		Atlas-SNP	.											LGI3,mouth,carcinoma,-1,1	LGI3	44	1	0			c.G1541A						scavenged	.						70	64	66					8																	22005779		2203	4300	6503	SO:0001583	missense	203190	exon8			AAGGCCCGAGGAG	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1541G>A	8.37:g.22005779C>T	ENSP00000302297:p.Arg514Gln	Somatic	62	1	0.016129		WXS	Illumina HiSeq	Phase_I	47	8	0.170213	NM_139278	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962688	0.92791	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80994	-1.44;-1.44	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	D	0.89022	0.6597	M	0.73598	2.24	0.52501	D	0.99995	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	D	0.90464	0.4448	10	0.87932	D	0	-46.0234	15.6803	0.77364	0.0:1.0:0.0:0.0	.	490;514	A5PLP2;Q8N145	.;LGI3_HUMAN	Q	514;490	ENSP00000302297:R514Q;ENSP00000399121:R490Q	ENSP00000302297:R514Q	R	-	2	0	LGI3	22061724	0.981000	0.34729	0.993000	0.49108	0.994000	0.84299	7.479000	0.81095	2.246000	0.74042	0.561000	0.74099	CGG	.	.	none		0.582	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22005779	C	T	22005779	3	4	13	1	0	0	0	0	1	0	0	0	8753	652	23	1	109	1	LGI3	8	22005779	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	4799280	22005779	124358243	104	3168										
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22974370	22974370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gagacaatgaccaccagcccGgggactcctgccccagctgc	11	17	0	2	rs151239314	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:22974370G>A	ENST00000356864.3	+	5	1138	c.606G>A	c.(604-606)ccG>ccA	p.P202P	TNFRSF10C_ENST00000540813.1_Silent_p.P100P	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	202					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCACCAGCCCGGGGACTCCTG	0.642																																					p.P202P		Atlas-SNP	.											TNFRSF10C,colon,carcinoma,0,2	TNFRSF10C	30	2	0			c.G606A						scavenged	.						57	72	67					8																	22974370		2203	4297	6500	SO:0001819	synonymous_variant	8794	exon5			CAGCCCGGGGACT	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.606G>A	8.37:g.22974370G>A		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	152	6	0.0394737	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Silent	SNP	ENST00000356864.3	37	CCDS6037.1																																																																																			G|0.882;A|0.118	0.118	strong		0.642	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			A	22974370	G	A	22974370	2	1	13	1	0	0	0	0	0	0	0	1	16279	1103	39	1		1	TNFRSF10C	8	22974370	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	968591	22974370	123389652	105	3169										
FZD3	7976	hgsc.bcm.edu	37	chr8	28385109	28385109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aatataaggcttccacagtgAcacaaggatctcataataaa	6	8	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:28385109A>G	ENST00000240093.3	+	5	1310	c.832A>G	c.(832-834)Aca>Gca	p.T278A	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.T278A	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	278					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTCCACAGTGACACAAGGATC	0.388																																					p.T278A		Atlas-SNP	.											FZD3,NS,carcinoma,-2,1	FZD3	65	1	0			c.A832G						scavenged	.						89	90	90					8																	28385109		2203	4300	6503	SO:0001583	missense	7976	exon5			ACAGTGACACAAG	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.832A>G	8.37:g.28385109A>G	ENSP00000240093:p.Thr278Ala	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	108	2	0.0185185	NM_017412	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084038	0.55861	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.81579	-1.51;-1.51	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	L	0.39514	1.22	0.80722	D	1	P	0.50819	0.939	P	0.54664	0.758	T	0.77210	-0.2671	10	0.20046	T	0.44	.	14.0951	0.65016	1.0:0.0:0.0:0.0	.	278	Q9NPG1	FZD3_HUMAN	A	278	ENSP00000437489:T278A;ENSP00000240093:T278A	ENSP00000240093:T278A	T	+	1	0	FZD3	28441028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.303000	0.72794	1.919000	0.55581	0.460000	0.39030	ACA	.	.	none		0.388	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		G	28385109	A	G	28385109	3	3	13	1	0	0	0	0	1	0	0	0	6131	275	10	2	842	2	FZD3	8	28385109	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	5410739	28385109	117978913	106	3170										
TACC1	6867	hgsc.bcm.edu	37	chr8	38677553	38677553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acctctccccaaggcatcctAtcacttcagtcctgaagagt	6	15	3	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:38677553A>G	ENST00000317827.4	+	3	1170	c.791A>G	c.(790-792)tAt>tGt	p.Y264C	TACC1_ENST00000520973.1_Missense_Mutation_p.Y69C|TACC1_ENST00000518415.1_Missense_Mutation_p.Y219C|TACC1_ENST00000379931.3_Missense_Mutation_p.Y264C|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.Y69C|TACC1_ENST00000443286.2_Missense_Mutation_p.Y280C|TACC1_ENST00000520615.1_Missense_Mutation_p.Y69C|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520340.1_Missense_Mutation_p.Y228C	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	264	Interaction with YEATS4.|SPAZ 1.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AAGGCATCCTATCACTTCAGT	0.532																																					p.Y264C		Atlas-SNP	.											.	TACC1	98	.	0			c.A791G						PASS	.						40	41	40					8																	38677553		2203	4300	6503	SO:0001583	missense	6867	exon3			CATCCTATCACTT	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.791A>G	8.37:g.38677553A>G	ENSP00000321703:p.Tyr264Cys	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	22	7	0.318182	NM_006283	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.514|0.514	-0.865152|-0.865152	0.02590|0.02590	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866|ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973;ENST00000521935	.|T;T;T;T;T;T;T;T;T	.|0.45668	.|2.63;2.63;2.74;2.71;2.56;2.78;2.77;2.58;0.89	4.93|4.93	-1.26|-1.26	0.09376|0.09376	.|.	.|0.676508	.|0.14325	.|N	.|0.326751	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B	.|0.17667	.|0.023;0.009;0.009;0.004;0.004;0.004;0.002;0.02	.|B;B;B;B;B;B;B;B	.|0.18871	.|0.015;0.007;0.005;0.005;0.006;0.003;0.001;0.023	T|T	0.13818|0.13818	-1.0495|-1.0495	5|10	.|0.42905	.|T	.|0.14	1.732|1.732	4.9397|4.9397	0.13960|0.13960	0.4702:0.2082:0.3216:0.0|0.4702:0.2082:0.3216:0.0	.|.	.|69;69;69;280;264;264;69;219	.|B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.|.;.;.;.;.;TACC1_HUMAN;.;.	V|C	39|69;69;69;280;219;236;264;264;69;69	.|ENSP00000428687:Y69C;ENSP00000428450:Y69C;ENSP00000393647:Y280C;ENSP00000428706:Y219C;ENSP00000430355:Y236C;ENSP00000321703:Y264C;ENSP00000369263:Y264C;ENSP00000430959:Y69C;ENSP00000428175:Y69C	.|ENSP00000321703:Y264C	I|Y	+|+	1|2	0|0	TACC1|TACC1	38796710|38796710	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	0.935000|0.935000	0.28924|0.28924	-0.540000|-0.540000	0.06265|0.06265	-0.376000|-0.376000	0.06991|0.06991	ATC|TAT	.	.	none		0.532	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		G	38677553	A	G	38677553	3	3	13	1	0	0	0	0	1	0	0	0	15498	449	16	2	801	2	TACC1	8	38677553	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	10292444	38677553	107686469	107	3171										
IKBKB	3551	hgsc.bcm.edu	37	chr8	42166458	42166458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agcagaagtacacagtgaccGtcgactactggagcttcggc	12	11	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:42166458G>A	ENST00000520810.1	+	8	793	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.V201I|IKBKB_ENST00000416505.2_Missense_Mutation_p.V144I|IKBKB_ENST00000519735.1_Missense_Mutation_p.V203I|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CACAGTGACCGTCGACTACTG	0.657																																					p.V203I		Atlas-SNP	.											.	IKBKB	88	.	0			c.G607A						PASS	.						149	129	136					8																	42166458		2203	4300	6503	SO:0001583	missense	3551	exon8			GTGACCGTCGACT	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.607G>A	8.37:g.42166458G>A	ENSP00000430684:p.Val203Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	91	36	0.395604	NM_001556	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373729	0.95923	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.62209	1.925	0.80722	D	1	P;D;D;D;D	0.76494	0.947;0.994;0.998;0.999;0.986	B;P;D;D;P	0.68621	0.4;0.864;0.959;0.915;0.834	T	0.64630	-0.6362	10	0.56958	D	0.05	.	18.4904	0.90844	0.0:0.0:1.0:0.0	.	144;201;154;203;203	B4E0U4;O14920-2;Q59GL9;O14920;Q32ND9	.;.;.;IKKB_HUMAN;.	I	203;144;203;201	ENSP00000430684:V203I;ENSP00000404920:V144I;ENSP00000430483:V203I;ENSP00000430868:V201I	ENSP00000404920:V144I	V	+	1	0	IKBKB	42285615	1.000000	0.71417	0.833000	0.33012	0.967000	0.64934	9.743000	0.98849	2.437000	0.82529	0.563000	0.77884	GTC	.	.	none		0.657	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42166458	G	A	42166458	3	1	13	1	0	0	0	0	1	0	0	0	7611	1145	40	1	633	1	IKBKB	8	42166458	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	3488905	42166458	104197564	108	3172										
SLCO5A1	81796	hgsc.bcm.edu	37	chr8	70585453	70585453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caaaatacacaaaacgaaacGacgtcacgttgtactcccag	6	12	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:70585453G>A	ENST00000260126.4	-	10	2904	c.2198C>T	c.(2197-2199)tCg>tTg	p.S733L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S678L|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	733						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAAACGAAACGACGTCACGTT	0.463																																					p.S733L		Atlas-SNP	.											SLCO5A1,colon,carcinoma,0,1	SLCO5A1	142	1	0			c.C2198T						scavenged	.						153	155	154					8																	70585453		2203	4300	6503	SO:0001583	missense	81796	exon10			CGAAACGACGTCA	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2198C>T	8.37:g.70585453G>A	ENSP00000260126:p.Ser733Leu	Somatic	76	1	0.0131579		WXS	Illumina HiSeq	Phase_I	62	2	0.0322581	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543375	0.65198	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	N	0.21373	0.66	0.58432	D	0.999998	D;B	0.67145	0.996;0.1	P;B	0.55055	0.767;0.04	T	0.77210	-0.2671	10	0.15952	T	0.53	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	678;733	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	L	733;678	ENSP00000260126:S733L;ENSP00000431611:S678L	ENSP00000260126:S733L	S	-	2	0	SLCO5A1	70748007	1.000000	0.71417	0.114000	0.21550	0.968000	0.65278	7.832000	0.86757	2.826000	0.97356	0.655000	0.94253	TCG	.	.	none		0.463	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		A	70585453	G	A	70585453	3	1	13	1	0	0	0	0	1	0	0	0	14731	1059	37	1	352	1	SLCO5A1	8	70585453	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	28418995	70585453	75778569	109	3173										
CNGB3	54714	hgsc.bcm.edu	37	chr8	87641188	87641188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atgtatattcataccaagtcCgaactcgcttttgcacaagt	6	10	1	0	rs77277189	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:87641188C>T	ENST00000320005.5	-	12	1486	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	480					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATACCAAGTCCGAACTCGCTT	0.418													C|||	11	0.00219649	0.0083	0.0	5008	,	,		18826	0.0		0.0	False		,,,				2504	0.0				p.R480Q		Atlas-SNP	.											.	CNGB3	176	.	0			c.G1439A						PASS	.	C	GLN/ARG	30,4376	36.0+/-67.5	0,30,2173	221	207	212		1439	4.1	0.8	8	dbSNP_131	212	0,8600		0,0,4300	yes	missense	CNGB3	NM_019098.4	43	0,30,6473	TT,TC,CC		0.0,0.6809,0.2307	probably-damaging	480/810	87641188	30,12976	2203	4300	6503	SO:0001583	missense	54714	exon12			CAAGTCCGAACTC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1439G>A	8.37:g.87641188C>T	ENSP00000316605:p.Arg480Gln	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	165	41	0.248485	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	22.5	4.298296	0.81025	0.006809	0.0	ENSG00000170289	ENST00000320005	D	0.97186	-4.28	5.92	4.14	0.48551	Cyclic nucleotide-binding-like (1);	0.062472	0.64402	D	0.000013	D	0.94879	0.8345	M	0.68728	2.09	0.52501	D	0.999959	P;P	0.50819	0.939;0.899	P;P	0.47162	0.54;0.49	D	0.92368	0.5903	10	0.33141	T	0.24	.	12.7654	0.57388	0.0:0.8674:0.0:0.1326	.	480;480	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	480	ENSP00000316605:R480Q	ENSP00000316605:R480Q	R	-	2	0	CNGB3	87710304	0.964000	0.33143	0.750000	0.31169	0.945000	0.59286	3.226000	0.51254	0.853000	0.35312	0.555000	0.69702	CGG	C|0.997;T|0.003	0.003	strong		0.418	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		T	87641188	C	T	87641188	3	4	13	1	0	0	0	0	1	0	0	0	3601	652	23	1	1018	1	CNGB3	8	87641188	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	17055735	87641188	58722834	110	3174										
DPY19L4	286148	hgsc.bcm.edu	37	chr8	95800214	95800214	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctaattgtagaggatgctatCtgcaatgaggtgggacccat	12	7	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:95800214C>T	ENST00000414645.2	+	18	2040	c.1941C>T	c.(1939-1941)atC>atT	p.I647I		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	647						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGGATGCTATCTGCAATGAGG	0.353																																					p.I647I		Atlas-SNP	.											DPY19L4,NS,carcinoma,+2,1	DPY19L4	60	1	0			c.C1941T						scavenged	.						69	72	71					8																	95800214		2203	4300	6503	SO:0001819	synonymous_variant	286148	exon18			TGCTATCTGCAAT		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1941C>T	8.37:g.95800214C>T		Somatic	276	2	0.00724638		WXS	Illumina HiSeq	Phase_I	279	3	0.0107527	NM_181787	Q6ZW32|Q6ZW42|Q7Z329	Silent	SNP	ENST00000414645.2	37	CCDS34924.1																																																																																			.	.	none		0.353	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		T	95800214	C	T	95800214	2	4	13	1	0	0	0	0	0	0	0	1	4743	903	32	2		2	DPY19L4	8	95800214	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	8159026	95800214	50563808	111	3175										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		Atlas-SNP	.											PABPC1,NS,carcinoma,0,2	PABPC1	76	2	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						scavenged	.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	222	3	0.0135135	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.	.	weak		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	13	1	0	0	0	0	1	0	0	0	11363	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	5924392	101724606	44639416	112	3176										
MYC	4609	hgsc.bcm.edu	37	chr8	128750536	128750536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcaacgttagcttcaccaacAggaactatgacctcgactac	6	13	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128750536A>G	ENST00000259523.6	+	2	1233	c.28A>G	c.(28-30)Agg>Ggg	p.R10G	MYC_ENST00000524013.1_Missense_Mutation_p.R24G|MYC_ENST00000377970.2_Missense_Mutation_p.R25G			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	10				R -> K (in Ref. 5; no nucleotide entry). {ECO:0000305}.	branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CTTCACCAACAGGAACTATGA	0.597		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R25G		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.A73G						PASS	.						74	74	74					8																	128750536		2203	4300	6503	SO:0001583	missense	4609	exon2			ACCAACAGGAACT		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.28A>G	8.37:g.128750536A>G	ENSP00000259523:p.Arg10Gly	Somatic	75	0	0	1567	WXS	Illumina HiSeq	Phase_I	88	31	0.352273	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.	.	.	.	.	.	.	.	.	.	A	18.41	3.617613	0.66787	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.08	5.08	0.68730	Transcription regulator Myc, N-terminal (1);	0.194195	0.53938	D	0.000047	T	0.19565	0.0470	L	0.40543	1.245	0.30828	N	0.737012	B	0.31459	0.324	B	0.30716	0.119	T	0.11036	-1.0604	10	0.46703	T	0.11	-13.7167	14.1763	0.65544	1.0:0.0:0.0:0.0	.	10	P01106	MYC_HUMAN	G	10;24;25;24;10	ENSP00000259523:R10G;ENSP00000429441:R24G;ENSP00000367207:R25G;ENSP00000430235:R24G	ENSP00000259523:R10G	R	+	1	2	MYC	128819718	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.799000	0.75160	2.144000	0.66660	0.459000	0.35465	AGG	.	.	none		0.597	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			G	128750536	A	G	128750536	3	3	13	1	0	0	0	0	1	0	0	0	10016	179	7	3	79	3	MYC	8	128750536	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	27025930	128750536	17613486	113	3177			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128750559	128750559	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aactatgacctcgactacgaCtcggtgcagccgtatttcta	8	12	1	1	rs146504683	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128750559C>G	ENST00000259523.6	+	2	1256	c.51C>G	c.(49-51)gaC>gaG	p.D17E	MYC_ENST00000524013.1_Missense_Mutation_p.D31E|MYC_ENST00000377970.2_Missense_Mutation_p.D32E			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	17					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	TCGACTACGACTCGGTGCAGC	0.612		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D32E		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.C96G						PASS	.						59	61	60					8																	128750559		2203	4300	6503	SO:0001583	missense	4609	exon2			CTACGACTCGGTG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.51C>G	8.37:g.128750559C>G	ENSP00000259523:p.Asp17Glu	Somatic	82	0	0	1567	WXS	Illumina HiSeq	Phase_I	94	31	0.329787	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.991184|1.991184	0.35131|0.35131	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617|ENST00000520751	T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38|.	5.08|5.08	2.27|2.27	0.28462|0.28462	Transcription regulator Myc, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71771|0.71771	0.3379|0.3379	M|M	0.79011|0.79011	2.435|2.435	0.53688|0.53688	D|D	0.999977|0.999977	D|.	0.69078|.	0.997|.	D|.	0.79108|.	0.992|.	T|T	0.73569|0.73569	-0.3941|-0.3941	10|6	0.56958|0.87932	D|D	0.05|0	-39.7262|-39.7262	9.824|9.824	0.40901|0.40901	0.0:0.7719:0.0:0.2281|0.0:0.7719:0.0:0.2281	.|.	17|.	P01106|.	MYC_HUMAN|.	E|S	17;31;32;31;17|6	ENSP00000259523:D17E;ENSP00000429441:D31E;ENSP00000367207:D32E;ENSP00000430235:D31E|.	ENSP00000259523:D17E|ENSP00000430226:T6S	D|T	+|+	3|2	2|0	MYC|MYC	128819741|128819741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.519000|1.519000	0.35888|0.35888	0.742000|0.742000	0.32697|0.32697	0.561000|0.561000	0.74099|0.74099	GAC|ACT	C|0.999;T|0.001	.	alt		0.612	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			G	128750559	C	G	128750559	3	3	13	1	0	0	0	0	1	0	0	0	10016	564	20	4	102	4	MYC	8	128750559	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	23	128750559	17613463	114	3178			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128750613	128750613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gagaacttctaccagcagcaGcagcagagcgagctgcagcc	12	13	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128750613G>A	ENST00000259523.6	+	2	1310	c.105G>A	c.(103-105)caG>caA	p.Q35Q	MYC_ENST00000524013.1_Silent_p.Q49Q|MYC_ENST00000377970.2_Silent_p.Q50Q			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	35	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACCAGCAGCAGCAGCAGAGCG	0.622		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q50Q		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	MYC_ENST00000377970,NS,lymphoid_neoplasm,0,4	MYC	168	4	0			c.G150A						PASS	.						42	44	44					8																	128750613		2203	4300	6503	SO:0001819	synonymous_variant	4609	exon2			GCAGCAGCAGCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.105G>A	8.37:g.128750613G>A		Somatic	75	0	0	1567	WXS	Illumina HiSeq	Phase_I	88	29	0.329545	NM_002467	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37		.	.	.	.	.	.	.	.	.	.	G	9.434	1.086417	0.20390	.	.	ENSG00000136997	ENST00000520751	.	.	.	5.08	2.26	0.28386	.	.	.	.	.	T	0.65964	0.2742	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64812	-0.6319	5	0.87932	D	0	-22.7786	9.9515	0.41642	0.3084:0.0:0.6916:0.0	.	.	.	.	N	24	.	ENSP00000430226:S24N	S	+	2	0	MYC	128819795	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	1.221000	0.32503	0.054000	0.16065	-1.134000	0.01955	AGC	.	.	none		0.622	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			A	128750613	G	A	128750613	2	1	13	1	0	0	0	0	0	0	0	1	10016	962	34	2		2	MYC	8	128750613	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	54	128750613	17613409	115	3179			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128750625	128750625	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagcagcagcagcagagcgaGctgcagcccccggcgcccag	14	17	0	1	rs121918684		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128750625G>C	ENST00000259523.6	+	2	1322	c.117G>C	c.(115-117)gaG>gaC	p.E39D	MYC_ENST00000524013.1_Missense_Mutation_p.E53D|MYC_ENST00000377970.2_Missense_Mutation_p.E54D			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	39			E -> D (in a Burkitt lymphoma symple). {ECO:0000269|PubMed:6419122, ECO:0000269|PubMed:8220424}.		branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AGCAGAGCGAGCTGCAGCCCC	0.632		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E54D		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	MYC_ENST00000377970,NS,lymphoid_neoplasm,0,8	MYC	168	8	0			c.G162C						PASS	.						35	39	38					8																	128750625		2203	4300	6503	SO:0001583	missense	4609	exon2			GAGCGAGCTGCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.117G>C	8.37:g.128750625G>C	ENSP00000259523:p.Glu39Asp	Somatic	71	0	0	1567	WXS	Illumina HiSeq	Phase_I	74	25	0.337838	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903276|1.903276	0.33628|0.33628	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013|ENST00000520751	T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19|.	4.78|4.78	3.9|3.9	0.45041|0.45041	Transcription regulator Myc, N-terminal (1);|.	0.367998|.	0.32671|.	N|.	0.005795|.	T|T	0.25717|0.25717	0.0626|0.0626	N|N	0.04508|0.04508	-0.205|-0.205	0.35092|0.35092	A|A	0.764443|0.764443	B|.	0.28667|.	0.219|.	B|.	0.30251|.	0.113|.	T|T	0.39461|0.39461	-0.9613|-0.9613	9|5	0.38643|0.87932	T|D	0.18|0	-20.4721|-20.4721	8.9469|8.9469	0.35764|0.35764	0.1688:0.0:0.8312:0.0|0.1688:0.0:0.8312:0.0	.|.	39|.	P01106|.	MYC_HUMAN|.	D|T	39;53;54;53|28	ENSP00000259523:E39D;ENSP00000429441:E53D;ENSP00000367207:E54D;ENSP00000430235:E53D|.	ENSP00000259523:E39D|ENSP00000430226:S28T	E|S	+|+	3|2	2|0	MYC|MYC	128819807|128819807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.447000|4.447000	0.60020|0.60020	1.389000|1.389000	0.46526|0.46526	0.561000|0.561000	0.74099|0.74099	GAG|AGC	.	.	weak		0.632	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			C	128750625	G	C	128750625	3	2	13	1	0	0	0	0	1	0	0	0	10016	962	34	4	168	4	MYC	8	128750625	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	12	128750625	17613397	116	3180			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128751021	128751021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcccgcggccacagcgtctgCtccacctccagcttgtacct	9	19	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128751021C>T	ENST00000259523.6	+	2	1718	c.513C>T	c.(511-513)tgC>tgT	p.C171C	MYC_ENST00000524013.1_Silent_p.C185C|MYC_ENST00000377970.2_Silent_p.C186C			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	171				C -> S (in Ref. 5; no nucleotide entry). {ECO:0000305}.	branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACAGCGTCTGCTCCACCTCCA	0.677		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C186C		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.C558T						PASS	.						21	23	22					8																	128751021		2203	4298	6501	SO:0001819	synonymous_variant	4609	exon2			CGTCTGCTCCACC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.513C>T	8.37:g.128751021C>T		Somatic	65	0	0	1567	WXS	Illumina HiSeq	Phase_I	59	16	0.271186	NM_002467	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37																																																																																				.	.	none		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			T	128751021	C	T	128751021	2	4	13	1	0	0	0	0	0	0	0	1	10016	805	28	2		2	MYC	8	128751021	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	396	128751021	17613001	117	3181			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128752802	128752802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgccacgtctccacacatcaGcacaactacgcagcgcctcc	6	19	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128752802G>C	ENST00000377970.2	+	3	1473	c.963G>C	c.(961-963)caG>caC	p.Q321H	MYC_ENST00000524013.1_Missense_Mutation_p.Q320H	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	306					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCACACATCAGCACAACTACG	0.567		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																p.Q321H		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	MYC_ENST00000377970,NS,carcinoma,+2,2	MYC	168	2	0			c.G963C						scavenged	.						87	66	73					8																	128752802		2203	4300	6503	SO:0001583	missense	4609	exon3			ACATCAGCACAAC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.963G>C	8.37:g.128752802G>C	ENSP00000367207:p.Gln321His	Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	127	46	0.362205	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437078	0.62955	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.29142	1.58;1.58	5.54	3.75	0.43078	Transcription regulator Myc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53136	-0.8481	10	0.87932	D	0	-23.0286	7.9696	0.30119	0.3035:0.0:0.6965:0.0	.	306	P01106	MYC_HUMAN	H	321;320;287	ENSP00000367207:Q321H;ENSP00000430235:Q320H	ENSP00000367207:Q321H	Q	+	3	2	MYC	128821984	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.831000	0.27476	1.338000	0.45544	0.650000	0.86243	CAG	.	.	none		0.567	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			C	128752802	G	C	128752802	3	2	13	1	0	0	0	0	1	0	0	0	10016	962	34	4	973	4	MYC	8	128752802	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1781	128752802	17611220	118	3182			2	19		7	7	2372	N	G_C_A	8.078956e-14
MYC	4609	hgsc.bcm.edu	37	chr8	128752907	128752907	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagatcagcaacaaccgaaaAtgcaccagccccaggtcctc	7	16	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:128752907A>G	ENST00000377970.2	+	3	1578	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	MYC_ENST00000524013.1_Silent_p.K355K	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	341	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACAACCGAAAATGCACCAGCC	0.557		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																p.K356K		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.A1068G						PASS	.						91	86	87					8																	128752907		2203	4300	6503	SO:0001819	synonymous_variant	4609	exon3			CCGAAAATGCACC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1068A>G	8.37:g.128752907A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	144	56	0.388889	NM_002467	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000377970.2	37	CCDS6359.2																																																																																			.	.	none		0.557	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			G	128752907	A	G	128752907	2	3	13	1	0	0	0	0	0	0	0	1	10016	98	4	2		2	MYC	8	128752907	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10	105	128752907	17611115	119	3183			2	19		7	7	2372	N	G_C_A	8.078956e-14
COL22A1	169044	hgsc.bcm.edu	37	chr8	139626110	139626110	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agtcgcaaagcaaaactcacCggtgggccccttggtccttg	11	13	1	0	rs139816222		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr8:139626110C>T	ENST00000303045.6	-	56	4424	c.3978G>A	c.(3976-3978)ccG>ccA	p.P1326P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.P1306P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1326	Collagen-like 13.|Gly-rich.|Pro-rich.				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)			CAAAACTCACCGGTGGGCCCC	0.478										HNSCC(7;0.00092)																											p.P1326P		Atlas-SNP	.											COL22A1,rectum,carcinoma,-1,1	COL22A1	390	1	0			c.G3978A						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	131	139	137		3978	3.8	1	8	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous-near-splice	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1326/1627	139626110	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	169044	exon56			ACTCACCGGTGGG	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.3978+1G>A	8.37:g.139626110C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	142	35	0.246479	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			C|1.000;T|0.000	0.000	weak		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent	T	139626110	C	T	139626110	5	4	13	1	0	0	0	0	0	0	1	0	3681	666	23	1	942	1	COL22A1	8	139626110	Splice_Site	SNP	C	TCGA-FF-8046-01A-11D-2210-10	10873203	139626110	6737912	120	3184										
MLLT3	4300	hgsc.bcm.edu	37	chr9	20414310	20414310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgctgctactgctgctgctActgctgctgctgctgctgct	11	14	0	0	rs148318848	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:20414310A>G	ENST00000380338.4	-	5	820	c.534T>C	c.(532-534)agT>agC	p.S178S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S175S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	178	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.527			T	MLL	ALL								A|||	169	0.033746	0.0272	0.0231	5008	,	,		12860	0.0169		0.0308	False		,,,				2504	0.0706				p.S178S		Atlas-SNP	.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,0,1	MLLT3	125	1	0			c.T534C						scavenged	.						25	33	30					9																	20414310		2142	4195	6337	SO:0001819	synonymous_variant	4300	exon5			GCTGCTACTGCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.534T>C	9.37:g.20414310A>G		Somatic	74	2	0.027027		WXS	Illumina HiSeq	Phase_I	82	10	0.121951	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																			.	.	weak		0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		G	20414310	A	G	20414310	2	3	13	1	0	0	0	0	0	0	0	1	9628	388	14	2		2	MLLT3	9	20414310	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10		20414310	120799121	121	3185										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33798075	33798075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctggggcaacactctgagctTtggtggtgagtgggaccctt	15	9	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:33798075T>C	ENST00000361005.5	+	3	620	c.620T>C	c.(619-621)tTt>tCt	p.F207S	PRSS3_ENST00000429677.3_Missense_Mutation_p.F143S|PRSS3_ENST00000342836.4_Missense_Mutation_p.F164S|PRSS3_ENST00000379405.3_Missense_Mutation_p.F150S|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACTCTGAGCTTTGGTGGTGAG	0.577																																					p.F207S		Atlas-SNP	.											PRSS3_ENST00000361005,brain,glioma,0,3	PRSS3	79	3	0			c.T620C						scavenged	.						121	104	109					9																	33798075		2203	4300	6503	SO:0001583	missense	5646	exon3			TGAGCTTTGGTGG		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.620T>C	9.37:g.33798075T>C	ENSP00000354280:p.Phe207Ser	Somatic	86	2	0.0232558		WXS	Illumina HiSeq	Phase_I	115	5	0.0434783	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	1.643	-0.516079	0.04200	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	T;D;D;T;D	0.92249	0.37;-2.35;-3.0;0.37;-3.0	3.61	-7.22	0.01485	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.710450	0.02946	N	0.141069	T	0.72630	0.3484	N	0.03224	-0.385	0.40775	D	0.983123	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.69907	-0.5018	10	0.02654	T	1	.	1.7451	0.02961	0.1264:0.1901:0.3621:0.3214	.	150;207;164	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	S	207;162;164;143;150	ENSP00000354280:F207S;ENSP00000401249:F162S;ENSP00000340889:F164S;ENSP00000401828:F143S;ENSP00000368715:F150S	ENSP00000340889:F164S	F	+	2	0	PRSS3	33788075	0.519000	0.26242	0.960000	0.40013	0.020000	0.10135	-0.135000	0.10420	-0.550000	0.06183	-1.390000	0.01156	TTT	.	.	none		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		C	33798075	T	C	33798075	3	2	13	1	0	0	0	0	1	0	0	0	12622	1841	64	2	674	2	PRSS3	9	33798075	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	13383765	33798075	107415356	122	3186										
ARID3C	138715	hgsc.bcm.edu	37	chr9	34623464	34623464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagctgagcgcatgcatgcgCtggcaggccggaggtggaac	17	11	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:34623464C>T	ENST00000378909.2	-	4	915	c.823G>A	c.(823-825)Gcg>Acg	p.A275T	DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	275	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CATGCATGCGCTGGCAGGCCG	0.667																																					p.A275T		Atlas-SNP	.											ARID3C,NS,carcinoma,+1,1	ARID3C	33	1	0			c.G823A						scavenged	.						50	56	54					9																	34623464		2200	4291	6491	SO:0001583	missense	138715	exon4			CATGCGCTGGCAG		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.823G>A	9.37:g.34623464C>T	ENSP00000368189:p.Ala275Thr	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	143	4	0.027972	NM_001017363		Missense_Mutation	SNP	ENST00000378909.2	37	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074183	0.36566	.	.	ENSG00000205143	ENST00000378909	T	0.45276	0.9	5.09	4.18	0.49190	.	2.020920	0.03270	N	0.184570	T	0.34571	0.0902	L	0.39397	1.21	0.09310	N	1	P	0.46064	0.872	B	0.37731	0.257	T	0.16541	-1.0399	10	0.13853	T	0.58	-2.4795	9.995	0.41893	0.0:0.9029:0.0:0.0971	.	275	A6NKF2	ARI3C_HUMAN	T	275	ENSP00000368189:A275T	ENSP00000368189:A275T	A	-	1	0	ARID3C	34613464	0.013000	0.17824	0.032000	0.17829	0.322000	0.28314	2.661000	0.46758	2.357000	0.79964	0.448000	0.29417	GCG	.	.	none		0.667	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		T	34623464	C	T	34623464	3	4	13	1	0	0	0	0	1	0	0	0	918	797	28	2	430	2	ARID3C	9	34623464	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	825389	34623464	106589967	123	3187										
HRCT1	646962	hgsc.bcm.edu	37	chr9	35906607	35906607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccaccaccaccacccccaccGccaccatccccgccacgctc	3	28	0	0	rs201684694		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:35906607G>C	ENST00000354323.2	+	1	419	c.323G>C	c.(322-324)cGc>cCc	p.R108P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	108	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cacccccaccgccaccatccc	0.677																																					p.R108P		Atlas-SNP	.											HRCT1,NS,carcinoma,0,1	HRCT1	14	1	0			c.G323C						scavenged	.						5	6	5					9																	35906607		1670	3248	4918	SO:0001583	missense	646962	exon1			CCCACCGCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.323G>C	9.37:g.35906607G>C	ENSP00000346283:p.Arg108Pro	Somatic	32	2	0.0625		WXS	Illumina HiSeq	Phase_I	22	11	0.5	NM_001039792	B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	G	3.247	-0.154060	0.06585	.	.	ENSG00000196196	ENST00000354323	.	.	.	0.698	-1.4	0.08968	.	0.824948	0.09848	N	0.747995	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	B	0.36989	0.238	T	0.17077	-1.0381	8	0.87932	D	0	-29.2099	.	.	.	.	108	Q6UXD1	HRCT1_HUMAN	P	108	.	ENSP00000346283:R108P	R	+	2	0	HRCT1	35896607	0.000000	0.05858	0.002000	0.10522	0.343000	0.28985	-0.250000	0.08830	-0.783000	0.04534	-0.346000	0.07831	CGC	.	.	alt		0.677	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		C	35906607	G	C	35906607	3	2	13	1	0	0	0	0	1	0	0	0	7353	1087	38	4	325	4	HRCT1	9	35906607	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1283143	35906607	105306824	124	3188										
DCAF10	79269	hgsc.bcm.edu	37	chr9	37860089	37860089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aagtcgtaacccctgaagttCttggtgagagtgaccacgga	12	9	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:37860089C>T	ENST00000377724.3	+	6	1575	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F	DCAF10_ENST00000242323.7_Missense_Mutation_p.L367F|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	404					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CCCTGAAGTTCTTGGTGAGAG	0.453																																					p.L404F		Atlas-SNP	.											DCAF10,NS,carcinoma,0,1	DCAF10	31	1	0			c.C1210T						scavenged	.						133	114	120					9																	37860089		2203	4300	6503	SO:0001583	missense	79269	exon6			GAAGTTCTTGGTG	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1210C>T	9.37:g.37860089C>T	ENSP00000366953:p.Leu404Phe	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	183	3	0.0163934	NM_024345	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695355	0.68386	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.72167	-0.3;-0.63	5.9	5.9	0.94986	WD40 repeat-like-containing domain (1);	0.048759	0.85682	D	0.000000	T	0.50222	0.1603	N	0.08118	0	0.34506	D	0.706606	B;B	0.32425	0.006;0.371	B;B	0.30716	0.002;0.119	T	0.56547	-0.7961	10	0.09843	T	0.71	.	17.776	0.88508	0.0:1.0:0.0:0.0	.	367;404	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	F	404;367	ENSP00000366953:L404F;ENSP00000242323:L367F	ENSP00000242323:L367F	L	+	1	0	DCAF10	37850089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.295000	0.78780	2.806000	0.96561	0.655000	0.94253	CTT	.	.	none		0.453	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		T	37860089	C	T	37860089	3	4	13	1	0	0	0	0	1	0	0	0	4261	913	32	2	1232	2	DCAF10	9	37860089	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1953482	37860089	103353342	125	3189										
FRMD3	257019	hgsc.bcm.edu	37	chr9	85863362	85863362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tagggggatcttcatactccCgggctgccttcactggggag	14	11	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:85863362C>T	ENST00000304195.3	-	14	1471	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.R422Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.R79Q|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.R228Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	422						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCATACTCCCGGGCTGCCTT	0.443																																					p.R422Q		Atlas-SNP	.											FRMD3,NS,carcinoma,+1,1	FRMD3	96	1	0			c.G1265A						PASS	.						72	72	72					9																	85863362		1847	4100	5947	SO:0001583	missense	257019	exon14			TACTCCCGGGCTG	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1265G>A	9.37:g.85863362C>T	ENSP00000303508:p.Arg422Gln	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	68	25	0.367647	NM_174938	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	5.988	0.366206	0.11352	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.85411	-1.57;-1.98;0.97;-1.59	5.38	-0.87	0.10646	.	1.075110	0.07080	N	0.836929	T	0.73171	0.3553	N	0.21448	0.665	0.09310	N	1	B;B;B	0.20261	0.0;0.0;0.043	B;B;B	0.09377	0.0;0.001;0.004	T	0.52609	-0.8553	10	0.13470	T	0.59	.	10.6066	0.45398	0.0:0.5266:0.0:0.4734	.	422;422;79	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	422;228;79;422	ENSP00000365621:R422Q;ENSP00000365617:R228Q;ENSP00000328615:R79Q;ENSP00000303508:R422Q	ENSP00000303508:R422Q	R	-	2	0	FRMD3	85053182	0.000000	0.05858	0.897000	0.35233	0.991000	0.79684	-0.925000	0.03992	-0.358000	0.08162	-0.131000	0.14894	CGG	.	.	none		0.443	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		T	85863362	C	T	85863362	3	4	13	1	0	0	0	0	1	0	0	0	6050	652	23	1	532	1	FRMD3	9	85863362	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	48003273	85863362	55350069	126	3190										
ASPN	54829	hgsc.bcm.edu	37	chr9	95237025	95237030	+	In_Frame_Del	DEL	TCATCA	TCATCA	-													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttggaaaaagagagttgtccTcatcatcatcatcatcatca					rs397840756|rs143279922|rs200538582|rs3078372|rs397838876|rs557103556		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	TCATCA	TCATCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:95237025_95237030delTCATCA	ENST00000375544.3	-	2	393_398	c.150_155delTGATGA	c.(148-156)gatgatgag>gag	p.DD50del	ASPN_ENST00000375543.1_In_Frame_Del_p.DD50del|ASPN_ENST00000450139.2_In_Frame_Del_p.DD22del|ASPN_ENST00000395538.3_In_Frame_Del_p.DD50del|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	50	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGAGTTGTCCtcatcatcatcatcat	0.398																																					p.51_52del		Pindel	.											.	ASPN	52	.	0			c.151_156del						PASS	.																																			SO:0001651	inframe_deletion	54829	exon2			.	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.150_155delTGATGA	9.37:g.95237031_95237036delTCATCA	ENSP00000364694:p.Asp50_Asp51del	Somatic	92	.	.		WXS	Illumina HiSeq	Phase_I	127	19	0.15	NM_001193335	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	In_Frame_Del	DEL	ENST00000375544.3	37																																																																																				-|0.500;TCA|0.500	0.500	alt		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		-	95237030	TCATCA	-	95237025	7	5	13	1	0	1	0	1	0	0	0	0	1057	1551	54	0	1015	0	ASPN	9	95237025	In_Frame_Del	DEL	TCATCA	TCGA-FF-8046-01A-11D-2210-10	9373663	95237025	45976406	127	3191										
ZNF484	83744	hgsc.bcm.edu	37	chr9	95610230	95610230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgcctcacattcatggcatTcatgctgcttttcttcagca	6	13	5	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:95610230T>C	ENST00000375495.3	-	5	987	c.839A>G	c.(838-840)gAa>gGa	p.E280G	ZNF484_ENST00000395506.3_Missense_Mutation_p.E282G|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244G|ZNF484_ENST00000395505.2_Missense_Mutation_p.E244G	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCATGGCATTCATGCTGCTT	0.433																																					p.E282G		Atlas-SNP	.											ZNF484,NS,carcinoma,-1,1	ZNF484	81	1	0			c.A845G						scavenged	.						96	91	93					9																	95610230		2203	4300	6503	SO:0001583	missense	83744	exon4			TGGCATTCATGCT	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.839A>G	9.37:g.95610230T>C	ENSP00000364645:p.Glu280Gly	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	301	5	0.0166113	NM_001261458	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.526	-0.309581	0.05458	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	2.47	-0.0298	0.13917	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.67397	2.05	0.09310	N	1	B;B	0.27559	0.181;0.181	B;B	0.21708	0.036;0.022	T	0.29305	-1.0016	9	0.59425	D	0.04	.	2.8479	0.05549	0.0:0.1548:0.2666:0.5786	.	282;280	B4DRI2;Q5JVG2	.;ZN484_HUMAN	G	244;282;280;244	ENSP00000378881:E244G;ENSP00000378882:E282G;ENSP00000364645:E280G;ENSP00000364646:E244G	ENSP00000364646:E244G	E	-	2	0	ZNF484	94650051	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.428000	0.06991	-0.018000	0.14079	-0.491000	0.04670	GAA	.	.	none		0.433	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		C	95610230	T	C	95610230	3	2	13	1	0	0	0	0	1	0	0	0	17934	1783	62	2	1723	2	ZNF484	9	95610230	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	373205	95610230	45603201	128	3192										
ALDOB	229	hgsc.bcm.edu	37	chr9	104189813	104189813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gggcgttggcgttttcctggAtagcgaggctggatggacac	17	8	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:104189813A>G	ENST00000374855.4	-	5	615	c.491T>C	c.(490-492)aTc>aCc	p.I164T	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	164					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GTTTTCCTGGATAGCGAGGCT	0.552																																					p.I164T		Atlas-SNP	.											.	ALDOB	69	.	0			c.T491C						PASS	.						110	86	94					9																	104189813		2203	4300	6503	SO:0001583	missense	229	exon5			TCCTGGATAGCGA	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.491T>C	9.37:g.104189813A>G	ENSP00000363988:p.Ile164Thr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	125	27	0.216	NM_000035	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784232	0.90282	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.89196	-2.48	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97485	1.0050	10	0.87932	D	0	-22.1026	16.0034	0.80327	1.0:0.0:0.0:0.0	.	164	P05062	ALDOB_HUMAN	T	164;91;164	ENSP00000363988:I164T	ENSP00000363986:I91T	I	-	2	0	ALDOB	103229634	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATC	.	.	none		0.552	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			G	104189813	A	G	104189813	3	3	13	1	0	0	0	0	1	0	0	0	508	333	12	2	623	2	ALDOB	9	104189813	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	8579583	104189813	37023618	129	3193										
OR13C2	392376	hgsc.bcm.edu	37	chr9	107367665	107367666	+	Frame_Shift_Del	DEL	GC	GC	-													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttctgaaaggaagctcactaGcgtggagggaatagaggtgg					rs377668801|rs143760725|rs144815315|rs140970710	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:107367665_107367666delGC	ENST00000542196.1	-	1	285_286	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGCTCACTAGCGTGGAGGGAA	0.515														1574	0.314297	0.4138	0.2003	5008	,	,		20880	0.4097		0.16	False		,,,				2504	0.3211				p.82_82del		Pindel	.											.	OR13C2	46	.	0			c.244_245del						PASS	.			2387,1861		730,927,467						2.2	0		dbSNP_134	35	1565,6681		171,1223,2729	no	frameshift	OR13C2	NM_001004481.1		901,2150,3196	A1A1,A1R,RR		18.9789,43.8089,31.6312				3952,8542				SO:0001589	frameshift_variant	392376	exon1			.		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.243_244delGC	9.37:g.107367665_107367666delGC	ENSP00000438815:p.Leu82fs	Somatic	507	.	.		WXS	Illumina HiSeq	Phase_I	579	118	0.204	NM_001004481	B9EGV8|Q6IF54	Frame_Shift_Del	DEL	ENST00000542196.1	37	CCDS35092.1																																																																																			.	.	strong		0.515	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		-	107367666	GC	-	107367665	7	5	13	1	0	1	0	1	0	0	0	0	10934	962	34	0	715	0	OR13C2	9	107367665	Frame_Shift_Del	DEL	GC	TCGA-FF-8046-01A-11D-2210-10	3177852	107367665	33845766	130	3194										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113259095	113259095	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cataattgcacaaaccttacCttttcaccagagttgtcttt	4	11	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:113259095C>G	ENST00000401783.2	-	8	2136	c.1800G>C	c.(1798-1800)aaG>aaC	p.K600N	SVEP1_ENST00000302728.8_Splice_Site_p.K600N|SVEP1_ENST00000374461.1_Splice_Site_p.K577N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Splice_Site_p.K577N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	600	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.K600N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAACCTTACCTTTTCACCAG	0.383																																					p.K600N		Atlas-SNP	.											SVEP1,colon,carcinoma,0,1	SVEP1	326	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1800C						PASS	.						122	110	114					9																	113259095		1867	4071	5938	SO:0001630	splice_region_variant	79987	exon8			CCTTACCTTTTCA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1800+1G>C	9.37:g.113259095C>G		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	198	60	0.30303	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181594	0.57800	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77750	-0.97;-0.98;-1.12;1.21	5.71	4.81	0.61882	Hyalin (2);	0.152075	0.64402	D	0.000013	T	0.70657	0.3249	N	0.16233	0.39	0.39786	D	0.972375	P;P;P	0.43231	0.801;0.801;0.557	P;B;B	0.49192	0.602;0.339;0.167	T	0.69993	-0.4994	9	.	.	.	.	13.6089	0.62063	0.0:0.9241:0.0:0.0759	.	600;600;600	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	N	600;577;600;577	ENSP00000384917:K600N;ENSP00000363593:K577N;ENSP00000304118:K600N;ENSP00000363585:K577N	.	K	-	3	2	SVEP1	112298916	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.089000	0.71384	1.430000	0.47334	-0.237000	0.12165	AAG	.	.	none		0.383	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	G	113259095	C	G	113259095	5	3	13	1	0	0	0	0	0	0	1	0	15417	695	24	4	9079	4	SVEP1	9	113259095	Splice_Site	SNP	C	TCGA-FF-8046-01A-11D-2210-10	5891430	113259095	27954336	131	3195										
PPAPDC3	84814	hgsc.bcm.edu	37	chr9	134165636	134165636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aagggcatcgccttcaactcCctgctggccatcgatatctg	9	14	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr9:134165636C>T	ENST00000372264.3	+	1	556	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PPAPDC3_ENST00000372261.1_Silent_p.S84S	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	84	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.S84S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTTCAACTCCCTGCTGGCCA	0.652																																					p.S84S		Atlas-SNP	.											PPAPDC3,NS,carcinoma,0,1	PPAPDC3	24	1	1	Substitution - coding silent(1)	lung(1)	c.C252T						scavenged	.						79	76	77					9																	134165636		2203	4300	6503	SO:0001819	synonymous_variant	84814	exon1			CAACTCCCTGCTG	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.252C>T	9.37:g.134165636C>T		Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_032728	Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	CCDS6942.1																																																																																			.	.	none		0.652	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		T	134165636	C	T	134165636	2	4	13	1	0	0	0	0	0	0	0	1	12296	610	22	2		2	PPAPDC3	9	134165636	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	20906541	134165636	7047795	132	3196										
ZNF438	220929	hgsc.bcm.edu	37	chr10	31137635	31137635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgcacaaaactcacaacacaTgagtttcttcagacggttct	6	11	4	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:31137635T>G	ENST00000361310.3	-	6	2028	c.1699A>C	c.(1699-1701)Atg>Ctg	p.M567L	ZNF438_ENST00000538351.2_Missense_Mutation_p.M518L|ZNF438_ENST00000452305.1_Missense_Mutation_p.M557L|ZNF438_ENST00000436087.2_Missense_Mutation_p.M567L|ZNF438_ENST00000413025.1_Missense_Mutation_p.M567L|ZNF438_ENST00000444692.2_Missense_Mutation_p.M557L|ZNF438_ENST00000331737.6_Missense_Mutation_p.M557L|ZNF438_ENST00000442986.1_Missense_Mutation_p.M567L|ZNF438_ENST00000375311.1_Missense_Mutation_p.M131L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	567					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCACAACACATGAGTTTCTTC	0.483																																					p.M567L		Atlas-SNP	.											.	ZNF438	90	.	0			c.A1699C						PASS	.						165	157	160					10																	31137635		2203	4300	6503	SO:0001583	missense	220929	exon7			AACACATGAGTTT	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1699A>C	10.37:g.31137635T>G	ENSP00000354663:p.Met567Leu	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	237	60	0.253165	NM_182755	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	7.360	0.624731	0.14193	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;3.22	5.4	-3.69	0.04450	Zinc finger, C2H2-like (1);	0.541309	0.20921	N	0.083263	T	0.04679	0.0127	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.40813	-0.9543	10	0.16420	T	0.52	-2.4183	7.8113	0.29232	0.0:0.3656:0.1286:0.5057	.	567;557	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	L	557;567;567;567;567;557;557;518;286;131	ENSP00000333571:M557L;ENSP00000354663:M567L;ENSP00000406934:M567L;ENSP00000412363:M567L;ENSP00000387546:M567L;ENSP00000413060:M557L;ENSP00000410898:M557L;ENSP00000445461:M518L;ENSP00000364460:M131L	ENSP00000333571:M557L	M	-	1	0	ZNF438	31177641	0.000000	0.05858	0.053000	0.19242	0.996000	0.88848	-0.371000	0.07513	-0.355000	0.08199	0.482000	0.46254	ATG	.	.	none		0.483	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31137635	T	G	31137635	3	3	13	1	0	0	0	0	1	0	0	0	17907	1464	51	5	795	5	ZNF438	10	31137635	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10		31137635	104397112	133	3197										
ZNF33A	7581	hgsc.bcm.edu	37	chr10	38343345	38343345	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaaagagaggagccaagaaaAccaatctaaacatttgtggg	11	6	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:38343345A>C	ENST00000458705.2	+	5	448	c.290A>C	c.(289-291)aAc>aCc	p.N97T	ZNF33A_ENST00000432900.2_Missense_Mutation_p.N104T|ZNF33A_ENST00000374618.3_Missense_Mutation_p.N98T|ZNF33A_ENST00000469037.2_Missense_Mutation_p.N98T|ZNF33A_ENST00000307441.9_Missense_Mutation_p.N97T			Q06730	ZN33A_HUMAN	zinc finger protein 33A	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCCAAGAAAACCAATCTAAA	0.348																																					p.N98T		Atlas-SNP	.											.	ZNF33A	103	.	0			c.A293C						PASS	.						90	91	90					10																	38343345		2203	4300	6503	SO:0001583	missense	7581	exon5			AAGAAAACCAATC	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.290A>C	10.37:g.38343345A>C	ENSP00000387713:p.Asn97Thr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	122	24	0.196721	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263115	0.23051	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.06218	3.34;3.34;3.33;3.33	1.46	1.46	0.22682	.	0.192021	0.25487	N	0.030322	T	0.09247	0.0228	L	0.45228	1.405	0.25885	N	0.983546	D;B;P;D	0.55385	0.971;0.031;0.952;0.971	P;B;P;P	0.52554	0.691;0.012;0.494;0.702	T	0.09552	-1.0669	10	0.51188	T	0.08	.	6.9664	0.24625	1.0:0.0:0.0:0.0	.	104;98;97;98	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	T	98;104;97;98;97	ENSP00000363747:N98T;ENSP00000402467:N104T;ENSP00000387713:N97T;ENSP00000304268:N97T	ENSP00000277672:N98T	N	+	2	0	ZNF33A	38383351	0.912000	0.30974	0.296000	0.24974	0.924000	0.55760	1.642000	0.37207	0.918000	0.36919	0.377000	0.23210	AAC	.	.	none		0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		C	38343345	A	C	38343345	3	2	13	1	0	0	0	0	1	0	0	0	17851	43	2	5	307	5	ZNF33A	10	38343345	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	7205710	38343345	97191402	134	3198										
MAPK8	5599	hgsc.bcm.edu	37	chr10	49618087	49618087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ataaagttacatagtcatggAgctcatggatgcaaatcttt	8	6	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:49618087A>G	ENST00000374189.1	+	5	507	c.326A>G	c.(325-327)gAg>gGg	p.E109G	MAPK8_ENST00000395611.3_Missense_Mutation_p.E109G|MAPK8_ENST00000360332.3_Missense_Mutation_p.E109G|MAPK8_ENST00000374182.3_Missense_Mutation_p.E109G|MAPK8_ENST00000374174.1_Missense_Mutation_p.E109G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ATAGTCATGGAGCTCATGGAT	0.358																																					p.E109G		Atlas-SNP	.											.	MAPK8	118	.	0			c.A326G						PASS	.						161	151	155					10																	49618087		2203	4300	6503	SO:0001583	missense	5599	exon4			TCATGGAGCTCAT	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.326A>G	10.37:g.49618087A>G	ENSP00000363304:p.Glu109Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	154	7	0.0454545	NM_139047	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747324	0.89663	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98041	1.0382	10	0.72032	D	0.01	.	15.7272	0.77770	1.0:0.0:0.0:0.0	.	109;109;109;109;109	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	109;26;109;109;109;109;109;109;109;109	ENSP00000387936:E109G;ENSP00000393223:E26G;ENSP00000363304:E109G;ENSP00000397729:E109G;ENSP00000363297:E109G;ENSP00000363294:E109G;ENSP00000353483:E109G;ENSP00000363291:E109G;ENSP00000363289:E109G;ENSP00000378974:E109G	ENSP00000353483:E109G	E	+	2	0	MAPK8	49288093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.176000	0.68965	0.528000	0.53228	GAG	.	.	none		0.358	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			G	49618087	A	G	49618087	3	3	13	1	0	0	0	0	1	0	0	0	9283	304	11	3	340	3	MAPK8	10	49618087	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	11274742	49618087	85916660	135	3199										
CCDC6	8030	hgsc.bcm.edu	37	chr10	61566690	61566690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atgcacacacctttcgtcgtCcatttctaagctggactcac	6	14	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:61566690C>T	ENST00000263102.6	-	6	1225	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	332						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCGTCGTCCATTTCTAAG	0.453			T	RET	NSCLC																																p.D332N		Atlas-SNP	.		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	CCDC6,colon,carcinoma,+2,1	CCDC6	44	1	0			c.G994A						scavenged	.						103	93	96					10																	61566690		2203	4300	6503	SO:0001583	missense	8030	exon6			CGTCGTCCATTTC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.994G>A	10.37:g.61566690C>T	ENSP00000263102:p.Asp332Asn	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_005436	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636261	0.96693	.	.	ENSG00000108091	ENST00000263102	T	0.53640	0.61	5.33	5.33	0.75918	.	0.137546	0.64402	D	0.000004	T	0.60983	0.2311	L	0.52573	1.65	0.80722	D	1	P	0.51449	0.945	P	0.57468	0.821	T	0.61662	-0.7017	10	0.56958	D	0.05	-19.7769	19.0058	0.92851	0.0:1.0:0.0:0.0	.	332	Q16204	CCDC6_HUMAN	N	332	ENSP00000263102:D332N	ENSP00000263102:D332N	D	-	1	0	CCDC6	61236696	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.735000	0.84939	2.514000	0.84764	0.467000	0.42956	GAC	.	.	none		0.453	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		T	61566690	C	T	61566690	3	4	13	1	0	0	0	0	1	0	0	0	2830	855	30	2	446	2	CCDC6	10	61566690	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11948603	61566690	73968057	136	3200										
ARID5B	84159	hgsc.bcm.edu	37	chr10	63852686	63852686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acctgtaggaagttcatatgGggaccttttgcataacagca	10	8	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:63852686G>T	ENST00000279873.7	+	10	3874	c.3464G>T	c.(3463-3465)gGg>gTg	p.G1155V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G912V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1155					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGTTCATATGGGGACCTTTTG	0.468																																					p.G1155V		Atlas-SNP	.											ARID5B,NS,haematopoietic_neoplasm,0,1	ARID5B	125	1	0			c.G3464T						scavenged	.						132	135	134					10																	63852686		2203	4300	6503	SO:0001583	missense	84159	exon10			CATATGGGGACCT	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3464G>T	10.37:g.63852686G>T	ENSP00000279873:p.Gly1155Val	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	128	3	0.0234375	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189564	0.57909	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.60171	0.26;0.21	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.67953	2.075	0.80722	D	1	P	0.37663	0.604	B	0.38616	0.277	T	0.66606	-0.5881	10	0.87932	D	0	-17.1979	19.8646	0.96799	0.0:0.0:1.0:0.0	.	1155	Q14865	ARI5B_HUMAN	V	1155;912	ENSP00000279873:G1155V;ENSP00000308862:G912V	ENSP00000279873:G1155V	G	+	2	0	ARID5B	63522692	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	7.639000	0.83342	2.702000	0.92279	0.655000	0.94253	GGG	.	.	none		0.468	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63852686	G	T	63852686	3	4	13	1	0	0	0	0	1	0	0	0	922	1232	43	4	3502	4	ARID5B	10	63852686	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	2285996	63852686	71682061	137	3201										
SLC29A3	55315	hgsc.bcm.edu	37	chr10	73111474	73111474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gatcctcagcggtgcctccaCtgtcttcagcagcagcatct	9	15	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:73111474C>T	ENST00000373189.5	+	4	591	c.539C>T	c.(538-540)aCt>aTt	p.T180I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	180					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGTGCCTCCACTGTCTTCAGC	0.567																																					p.T180I	Esophageal Squamous(200;1319 2142 18949 31248 39672)	Atlas-SNP	.											.	SLC29A3	51	.	0			c.C539T						PASS	.						129	97	108					10																	73111474		2203	4300	6503	SO:0001583	missense	55315	exon4			CCTCCACTGTCTT	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.539C>T	10.37:g.73111474C>T	ENSP00000362285:p.Thr180Ile	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_018344	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964306	0.34659	.	.	ENSG00000198246	ENST00000373189	T	0.63580	-0.05	5.83	2.91	0.33838	.	0.231809	0.45606	N	0.000358	T	0.62221	0.2410	M	0.78916	2.43	0.35689	D	0.814676	B	0.18013	0.025	B	0.27076	0.076	T	0.66404	-0.5932	9	0.72032	D	0.01	-22.0043	8.8699	0.35309	0.0:0.7627:0.0:0.2373	.	180	Q9BZD2	S29A3_HUMAN	I	180	ENSP00000362285:T180I	ENSP00000362285:T180I	T	+	2	0	SLC29A3	72781480	0.977000	0.34250	0.048000	0.18961	0.667000	0.39255	2.530000	0.45641	0.345000	0.23873	0.555000	0.69702	ACT	.	.	none		0.567	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		T	73111474	C	T	73111474	3	4	13	1	0	0	0	0	1	0	0	0	14536	565	20	2	553	2	SLC29A3	10	73111474	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	9258788	73111474	62423273	138	3202										
FAM35A	54537	hgsc.bcm.edu	37	chr10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccttaaaatatcaactgataCagaatttctcagtataatta	3	7	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:88911830C>A	ENST00000298784.1	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298786.4_Missense_Mutation_p.T240K|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388																																					p.T240K	Ovarian(175;703 2004 25460 32514 43441)	Atlas-SNP	.											FAM35A,NS,carcinoma,0,3	FAM35A	48	3	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C719A						scavenged	.						30	30	30					10																	88911830		2203	4295	6498	SO:0001583	missense	54537	exon3			CTGATACAGAATT	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.719C>A	10.37:g.88911830C>A	ENSP00000298784:p.Thr240Lys	Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	158	4	0.0253165	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.071539	0.55646	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.27104	1.7;1.69;1.69	4.09	3.09	0.35607	.	0.289768	0.25801	N	0.028214	T	0.45716	0.1356	.	.	.	0.34044	D	0.655393	D	0.63046	0.992	D	0.65573	0.936	T	0.61700	-0.7009	9	0.59425	D	0.04	-9.6069	12.3445	0.55114	0.0:0.9021:0.0:0.0979	.	240	Q86V20	FA35A_HUMAN	K	240	ENSP00000298786:T240K;ENSP00000298784:T240K;ENSP00000351064:T240K	ENSP00000298784:T240K	T	+	2	0	FAM35A	88901810	1.000000	0.71417	0.665000	0.29768	0.884000	0.51177	2.667000	0.46808	2.134000	0.65973	0.537000	0.68136	ACA	.	.	weak		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		A	88911830	C	A	88911830	3	1	13	1	0	0	0	0	1	0	0	0	5553	478	17	4	721	4	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	15800356	88911830	46622917	139	3203										
PSD	5662	hgsc.bcm.edu	37	chr10	104165236	104165236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cccccgctgatccgcttgatGaccttggggttggggtcggc	15	13	0	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:104165236G>A	ENST00000020673.5	-	12	2719	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V	PSD_ENST00000406432.1_Silent_p.V731V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCGCTTGATGACCTTGGGGT	0.662																																					p.V731V		Atlas-SNP	.											PSD_ENST00000020673,NS,carcinoma,-1,2	PSD	164	2	0			c.C2193T						scavenged	.						56	54	55					10																	104165236		2203	4300	6503	SO:0001819	synonymous_variant	5662	exon13			CTTGATGACCTTG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2193C>T	10.37:g.104165236G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_001270965	B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	CCDS31272.1																																																																																			.	.	none		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			A	104165236	G	A	104165236	2	1	13	1	0	0	0	0	0	0	0	1	12646	1277	45	2		2	PSD	10	104165236	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	15253406	104165236	31369511	140	3204										
ABLIM1	3983	hgsc.bcm.edu	37	chr10	116225565	116225565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgtggaccgatggatcatccGatcccgaacatcctggtacc	10	14	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr10:116225565G>A	ENST00000277895.5	-	12	1430	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R157W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R385W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R103W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R157W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R385W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	445					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)		TGGATCATCCGATCCCGAACA	0.557																																					p.R445W		Atlas-SNP	.											ABLIM1_ENST00000392952,rectum,carcinoma,+1,6	ABLIM1	131	6	0			c.C1333T						scavenged	.						202	182	189					10																	116225565		2203	4300	6503	SO:0001583	missense	3983	exon12			TCATCCGATCCCG	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.1333C>T	10.37:g.116225565G>A	ENSP00000277895:p.Arg445Trp	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219819	0.95139	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.41	5.41	0.78517	.	0.246709	0.41500	D	0.000864	D	0.82323	0.5012	M	0.63428	1.95	0.53688	D	0.999979	D;P;D;D;D;D;D;D;D	0.89917	1.0;0.622;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;B;D;D;P;D;D;P;D	0.91635	0.899;0.043;0.999;0.96;0.872;0.983;0.994;0.872;0.997	T	0.80774	-0.1232	10	0.40728	T	0.16	.	17.7392	0.88403	0.0:0.0:1.0:0.0	.	369;129;385;413;445;157;413;369;103	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;.;.;ABLM1_HUMAN;.;.;.;.	W	445;385;157;103;413;385;473;369;157;369;369;473;157;110;129	ENSP00000358256:R385W;ENSP00000376679:R157W;ENSP00000433629:R385W;ENSP00000358270:R157W;ENSP00000414154:R110W;ENSP00000400934:R129W	ENSP00000277895:R473W	R	-	1	2	ABLIM1	116215555	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.737000	0.98831	2.706000	0.92434	0.650000	0.86243	CGG	.	.	none		0.557	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			A	116225565	G	A	116225565	3	1	13	1	0	0	0	0	1	0	0	0	94	1057	37	1	1047	1	ABLIM1	10	116225565	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	12060329	116225565	19309182	141	3205										
IFITM3	10410	hgsc.bcm.edu	37	chr11	320723	320723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttgtggggcgcccccagcaCagccacctcgtgctcctcct	11	18	0	0	rs199582787	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	31					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCCAGCACAGCCACCTCG	0.612																																					p.V31M		Atlas-SNP	.											IFITM3,brain,glioma,0,1	IFITM3	132	1	0			c.G91A						scavenged	.						87	98	95					11																	320723		1967	4140	6107	SO:0001583	missense	10410	exon1			CCAGCACAGCCAC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.91G>A	11.37:g.320723C>T	ENSP00000382707:p.Val31Met	Somatic	78	2	0.025641		WXS	Illumina HiSeq	Phase_I	116	12	0.103448	NM_021034	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526447	0.27299	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.79454	-1.03;-1.27	4.61	-4.91	0.03085	.	11.488500	0.02440	N	0.084490	T	0.64516	0.2605	L	0.39147	1.195	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46400	-0.9194	10	0.13108	T	0.6	0.9022	6.4601	0.21952	0.1231:0.361:0.0:0.5159	.	31	Q01628	IFM3_HUMAN	M	31;15;10	ENSP00000382707:V31M;ENSP00000432108:V10M	ENSP00000372047:V15M	V	-	1	0	IFITM3	310723	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.638000	0.02013	-0.562000	0.06086	-1.790000	0.00627	GTG	.	.	weak		0.612	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		T	320723	C	T	320723	3	4	13	1	0	0	0	0	1	0	0	0	7528	478	17	2	318	2	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10		320723	134685793	142	3206										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017316	1017316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgtggtgtgagggtgtgatgGggttggataggtagtggtgg	23	0	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:1017316G>T	ENST00000421673.2	-	31	5535	c.5485C>A	c.(5485-5487)Cca>Aca	p.P1829T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1829	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTGTGATGGGGTTGGATAG	0.547																																					p.P1829T		Atlas-SNP	.											MUC6_ENST00000421673,right_upper_lobe,carcinoma,+1,2	MUC6	408	2	0			c.C5485A						scavenged	.																																			SO:0001583	missense	4588	exon31			GTGATGGGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5485C>A	11.37:g.1017316G>T	ENSP00000406861:p.Pro1829Thr	Somatic	742	23	0.0309973		WXS	Illumina HiSeq	Phase_I	783	29	0.037037	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335327	0.24253	.	.	ENSG00000184956	ENST00000421673	T	0.24723	1.84	3.21	-0.343	0.12632	.	.	.	.	.	T	0.30355	0.0762	L	0.52126	1.63	0.09310	N	1	D	0.54964	0.969	P	0.61477	0.889	T	0.17531	-1.0366	9	0.02654	T	1	.	7.2552	0.26173	0.0:0.2939:0.4065:0.2996	.	1829	Q6W4X9	MUC6_HUMAN	T	1829	ENSP00000406861:P1829T	ENSP00000406861:P1829T	P	-	1	0	MUC6	1007316	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.664000	0.05292	-0.177000	0.10690	0.313000	0.20887	CCA	.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017316	G	T	1017316	3	4	13	1	0	0	0	0	1	0	0	0	9980	1232	43	4	1846	4	MUC6	11	1017316	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	696593	1017316	133989200	143	3207										
TPP1	6881	hgsc.bcm.edu	37	chr11	6636488	6636488	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agccacatctgggtaggcacGgccactggcattgaagtaac	12	11	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:6636488G>A	ENST00000299424.4	-	0	0				TPP1_ENST00000299427.6_Missense_Mutation_p.R447C|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.R204C	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGGCACGGCCACTGGCA	0.547																																					p.R447C		Atlas-SNP	.											TPP1,colon,carcinoma,+1,1	TPP1	71	1	0			c.C1339T						scavenged	.						123	123	123					11																	6636488		2201	4296	6497	SO:0001631	upstream_gene_variant	1200	exon11			AGGCACGGCCACT	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636488G>A	Exception_encountered	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	202	2	0.00990099	NM_000391	O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923884	0.73213	.	.	ENSG00000166340	ENST00000299427;ENST00000533371;ENST00000453338	D;D	0.96830	-4.14;-4.14	5.05	5.05	0.67936	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99727	1.1011	10	0.87932	D	0	-23.0815	15.9083	0.79447	0.0:0.0:1.0:0.0	.	447	O14773	TPP1_HUMAN	C	447;204;230	ENSP00000299427:R447C;ENSP00000437066:R204C	ENSP00000299427:R447C	R	-	1	0	TPP1	6593064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.503000	0.60407	2.352000	0.79861	0.561000	0.74099	CGT	.	.	none		0.547	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		A	6636488	G	A	6636488	1	1	13	0	1	0	0	0	0	0	0	0	16408	1116	39	1		1	TPP1	11	6636488	5'Flank	SNP	G	TCGA-FF-8046-01A-11D-2210-10	5619172	6636488	128370028	144	3208										
MICAL2	9645	hgsc.bcm.edu	37	chr11	12281376	12281376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcaagagcaggaagcccctcGgagagacactcccaccgaaa	11	14	0	2	rs2270515	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:12281376G>A	ENST00000256194.4	+	26	3554	c.3266G>A	c.(3265-3267)cGg>cAg	p.R1089Q	MICAL2_ENST00000537344.1_Missense_Mutation_p.R899Q|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1068Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R899Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R863Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1089			R -> Q (in dbSNP:rs2270515).		actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGCCCCTCGGAGAGACACT	0.552													G|||	8	0.00159744	0.0	0.0	5008	,	,		17690	0.0079		0.0	False		,,,				2504	0.0				p.R1089Q		Atlas-SNP	.											MICAL2,NS,carcinoma,+1,1	MICAL2	114	1	0			c.G3266A						PASS	.						54	54	54					11																	12281376		2201	4294	6495	SO:0001583	missense	9645	exon26			CCCCTCGGAGAGA	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3266G>A	11.37:g.12281376G>A	ENSP00000256194:p.Arg1089Gln	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	161	56	0.347826	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	1.895	-0.454548	0.04540	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.26	5.26	-3.4	0.04853	.	1.374950	0.04696	N	0.414963	T	0.23611	0.0571	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.32128	0.002;0.03;0.0;0.0;0.001;0.357	B;B;B;B;B;B	0.18871	0.001;0.005;0.0;0.0;0.001;0.023	T	0.06058	-1.0848	10	0.13470	T	0.59	.	3.761	0.08604	0.2276:0.3179:0.3678:0.0867	rs2270515;rs52826400;rs2270515	432;1068;899;842;863;1089	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Q	899;432;1089;899;1068;863	ENSP00000441689:R899Q;ENSP00000256194:R1089Q;ENSP00000433965:R899Q;ENSP00000344894:R1068Q;ENSP00000368932:R863Q	ENSP00000256194:R1089Q	R	+	2	0	MICAL2	12237952	0.000000	0.05858	0.016000	0.15963	0.370000	0.29829	-0.913000	0.04042	-0.723000	0.04915	-1.378000	0.01179	CGG	G|0.994;A|0.006	0.006	strong		0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12281376	G	A	12281376	3	1	13	1	0	0	0	0	1	0	0	0	9570	1116	39	1	3360	1	MICAL2	11	12281376	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	5644888	12281376	122725140	145	3209										
FANCF	2188	hgsc.bcm.edu	37	chr11	22646551	22646551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccagatagacaggagacagcGctgggtggcggctagtcact	15	10	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:22646551G>A	ENST00000327470.3	-	1	836	c.806C>T	c.(805-807)gCg>gTg	p.A269V	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	269					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						AGGAGACAGCGCTGGGTGGCG	0.542			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A269V		Atlas-SNP	.	yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	FANCF,colon,carcinoma,+1,1	FANCF	24	1	0			c.C806T						scavenged	.						51	59	57					11																	22646551		2203	4300	6503	SO:0001583	missense	2188	exon1	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GACAGCGCTGGGT		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.806C>T	11.37:g.22646551G>A	ENSP00000330875:p.Ala269Val	Somatic	53	0	0	757	WXS	Illumina HiSeq	Phase_I	62	2	0.0322581	NM_022725	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385953	0.42308	.	.	ENSG00000183161	ENST00000327470	T	0.30981	1.51	5.34	-1.63	0.08345	.	0.677816	0.14310	U	0.327714	T	0.22975	0.0555	N	0.24115	0.695	0.09310	N	1	D	0.53885	0.963	P	0.50825	0.651	T	0.20405	-1.0276	10	0.30078	T	0.28	-4.8245	6.9838	0.24718	0.0656:0.0856:0.2961:0.5527	.	269	Q9NPI8	FANCF_HUMAN	V	269	ENSP00000330875:A269V	ENSP00000330875:A269V	A	-	2	0	FANCF	22603127	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.376000	0.07465	-0.478000	0.06823	-0.310000	0.09108	GCG	.	.	none		0.542	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		A	22646551	G	A	22646551	3	1	13	1	0	0	0	0	1	0	0	0	5667	1087	38	1	322	1	FANCF	11	22646551	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	10365175	22646551	112359965	146	3210										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	14	5	1	4	rs200778682	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																					p.I111T		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,4	TRIM48	149	4	0			c.T332C						scavenged	.						98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097	exon2			GTGGCATTCACAG	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr	Somatic	624	13	0.0208333		WXS	Illumina HiSeq	Phase_I	752	14	0.018617	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT	T|0.996;C|0.004	0.004	strong		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	13	1	0	0	0	0	1	0	0	0	16520	1493	52	2	338	2	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	32386112	55032663	79973853	147	3211										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	226	6	0.0265487		WXS	Illumina HiSeq	Phase_I	259	6	0.023166	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	13	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	2938540	57971203	77035313	148	3212										
KDM2A	22992	hgsc.bcm.edu	37	chr11	67022437	67022437	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaggatgcaagcagatcactCgaaaagcctgcgagcacttc	11	11	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:67022437C>T	ENST00000529006.2	+	21	3846	c.3400C>T	c.(3400-3402)Cga>Tga	p.R1134*	KDM2A_ENST00000530342.1_Nonsense_Mutation_p.R695*|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Nonsense_Mutation_p.R592*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1134					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCAGATCACTCGAAAAGCCTG	0.512																																					p.R1134X		Atlas-SNP	.											KDM2A,NS,carcinoma,-1,2	KDM2A	80	2	0			c.C3400T						scavenged	.						85	84	84					11																	67022437		2036	4196	6232	SO:0001587	stop_gained	22992	exon21			ATCACTCGAAAAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3400C>T	11.37:g.67022437C>T	ENSP00000432786:p.Arg1134*	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	145	2	0.0137931	NM_012308	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Nonsense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	41	8.657581	0.98903	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	.	.	.	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-9.443	13.9094	0.63857	0.5415:0.4585:0.0:0.0	.	.	.	.	X	1134;695;592	.	ENSP00000309302:R592X	R	+	1	2	KDM2A	66779013	0.575000	0.26692	0.996000	0.52242	0.997000	0.91878	0.549000	0.23329	0.287000	0.22375	0.655000	0.94253	CGA	.	.	none		0.512	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	67022437	C	T	67022437	4	4	13	1	0	0	0	0	0	1	0	0	8124	876	31	1	3478	1	KDM2A	11	67022437	Nonsense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	9051234	67022437	67984079	149	3213										
ALDH3B2	222	hgsc.bcm.edu	37	chr11	67432799	67432799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctctggcccccaatggccacGcggctgcagcccagcaatgc	11	18	1	0	rs80147122		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:67432799G>A	ENST00000349015.3	-	7	1101	c.663C>T	c.(661-663)cgC>cgT	p.R221R	ALDH3B2_ENST00000530069.1_Silent_p.R221R|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	221					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAATGGCCACGCGGCTGCAGC	0.632																																					p.R221R		Atlas-SNP	.											ALDH3B2,NS,haematopoietic_neoplasm,0,2	ALDH3B2	46	2	0			c.C663T						scavenged	.						52	59	57					11																	67432799		2200	4293	6493	SO:0001819	synonymous_variant	222	exon7			GGCCACGCGGCTG	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.663C>T	11.37:g.67432799G>A		Somatic	271	2	0.00738007		WXS	Illumina HiSeq	Phase_I	271	7	0.0258303	NM_001031615	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																			.	.	strong		0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		A	67432799	G	A	67432799	2	1	13	1	0	0	0	0	0	0	0	1	500	1074	38	1		1	ALDH3B2	11	67432799	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	410362	67432799	67573717	150	3214										
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																					p.C148C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,0,1	KRTAP5-8	28	1	0			c.C444T						scavenged	.						173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CAGCTGCTGTAAG	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.444C>T	11.37:g.71249545C>T		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	133	4	0.0300752	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			.	.	none		0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249545	C	T	71249545	2	4	13	1	0	0	0	0	0	0	0	1	8567	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3816746	71249545	63756971	151	3215										
INTS4	92105	hgsc.bcm.edu	37	chr11	77614592	77614592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgaataagcttacctgtttCgctgctgctgaggccaaatc	9	11	0	2	rs565544206	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:77614592C>T	ENST00000534064.1	-	17	2125	c.2091G>A	c.(2089-2091)gcG>gcA	p.A697A	INTS4_ENST00000535943.1_Silent_p.A72A|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	697					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A697A(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTACCTGTTTCGCTGCTGCTG	0.483													C|||	7	0.00139776	0.0045	0.0	5008	,	,		22683	0.001		0.0	False		,,,				2504	0.0				p.A697A		Atlas-SNP	.											INTS4,NS,carcinoma,0,2	INTS4	89	2	1	Substitution - coding silent(1)	prostate(1)	c.G2091A						scavenged	.						63	54	57					11																	77614592		2200	4292	6492	SO:0001819	synonymous_variant	92105	exon17			CTGTTTCGCTGCT	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2091G>A	11.37:g.77614592C>T		Somatic	200	5	0.025		WXS	Illumina HiSeq	Phase_I	228	10	0.0438596	NM_033547	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																			.	.	weak		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		T	77614592	C	T	77614592	2	4	13	1	0	0	0	0	0	0	0	1	7780	871	31	1		1	INTS4	11	77614592	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	6365047	77614592	57391924	152	3216										
CWF19L2	143884	hgsc.bcm.edu	37	chr11	107197725	107197725	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgatcctcaaagctttctcGgatgcctttcctccaaagtc	6	14	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr11:107197725G>A	ENST00000282251.5	-	18	2623	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	866							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGCTTTCTCGGATGCCTTTC	0.388																																					p.R866X		Atlas-SNP	.											CWF19L2_ENST00000282251,NS,carcinoma,+2,2	CWF19L2	135	2	0			c.C2596T						scavenged	.						143	146	145					11																	107197725		2201	4298	6499	SO:0001587	stop_gained	143884	exon18			TTTCTCGGATGCC	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2596C>T	11.37:g.107197725G>A	ENSP00000282251:p.Arg866*	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	38	6.757704	0.97817	.	.	ENSG00000152404	ENST00000282251	.	.	.	5.57	3.63	0.41609	.	0.115474	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8983	13.4239	0.61013	0.0:0.0:0.5722:0.4278	.	.	.	.	X	866	.	ENSP00000282251:R866X	R	-	1	2	CWF19L2	106702935	1.000000	0.71417	0.882000	0.34594	0.996000	0.88848	2.263000	0.43293	0.663000	0.31027	0.650000	0.86243	CGA	.	.	none		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		A	107197725	G	A	107197725	4	1	13	1	0	0	0	0	0	1	0	0	4072	1124	39	1	92	1	CWF19L2	11	107197725	Nonsense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	29583133	107197725	27808791	153	3217										
ADIPOR2	79602	hgsc.bcm.edu	37	chr12	1895203	1895203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tccaggagtttcgtttcatgAtcggcgggggctgcagtgaa	15	8	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:1895203A>G	ENST00000357103.4	+	8	1377	c.1126A>G	c.(1126-1128)Atc>Gtc	p.I376V		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	376					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TCGTTTCATGATCGGCGGGGG	0.537																																					p.I376V		Atlas-SNP	.											ADIPOR2,bladder,carcinoma,-2,1	ADIPOR2	30	1	0			c.A1126G						scavenged	.						130	127	128					12																	1895203		2203	4300	6503	SO:0001583	missense	79602	exon8			TTCATGATCGGCG	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1126A>G	12.37:g.1895203A>G	ENSP00000349616:p.Ile376Val	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	188	3	0.0159574	NM_024551	Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	A	6.869	0.529748	0.13127	.	.	ENSG00000006831	ENST00000357103	T	0.16196	2.36	5.29	1.64	0.23874	.	0.216525	0.46758	N	0.000262	T	0.05686	0.0149	N	0.02266	-0.62	0.26149	N	0.98016	B	0.02656	0.0	B	0.01281	0.0	T	0.40403	-0.9565	10	0.17832	T	0.49	-6.3274	8.6202	0.33855	0.5235:0.0:0.4765:0.0	.	376	Q86V24	ADR2_HUMAN	V	376	ENSP00000349616:I376V	ENSP00000349616:I376V	I	+	1	0	ADIPOR2	1765464	1.000000	0.71417	0.837000	0.33122	0.997000	0.91878	2.871000	0.48459	0.035000	0.15519	0.533000	0.62120	ATC	.	.	none		0.537	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		G	1895203	A	G	1895203	3	3	13	1	0	0	0	0	1	0	0	0	319	333	12	2	1152	2	ADIPOR2	12	1895203	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10		1895203	131956692	154	3218										
KCNA1	3736	hgsc.bcm.edu	37	chr12	5021624	5021624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcgcacttctccagtatcccCgatgctttctggtgggcggt	11	13	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:5021624C>T	ENST00000382545.3	+	2	2187	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	360					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCAGTATCCCCGATGCTTTCT	0.537																																					p.P360P		Atlas-SNP	.											KCNA1,NS,carcinoma,0,3	KCNA1	112	3	0			c.C1080T						scavenged	.						186	178	181					12																	5021624		2203	4300	6503	SO:0001819	synonymous_variant	3736	exon2			TATCCCCGATGCT	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1080C>T	12.37:g.5021624C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	212	5	0.0235849	NM_000217	A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	CCDS8535.1																																																																																			.	.	none		0.537	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5021624	C	T	5021624	2	4	13	1	0	0	0	0	0	0	0	1	8001	639	23	1		1	KCNA1	12	5021624	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3126421	5021624	128830271	155	3219										
NANOG	79923	hgsc.bcm.edu	37	chr12	7947105	7947105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atctaagaggtggcagaaaaAcaactggccgaagaatagca	11	7	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:7947105A>G	ENST00000229307.4	+	3	686	c.467A>G	c.(466-468)aAc>aGc	p.N156S	NANOG_ENST00000526286.1_Missense_Mutation_p.N156S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	156					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TGGCAGAAAAACAACTGGCCG	0.393																																					p.N156S		Atlas-SNP	.											NANOG,colon,carcinoma,0,1	NANOG	30	1	0			c.A467G						scavenged	.						64	72	70					12																	7947105		2203	4300	6503	SO:0001583	missense	79923	exon3			AGAAAAACAACTG	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.467A>G	12.37:g.7947105A>G	ENSP00000229307:p.Asn156Ser	Somatic	478	0	0		WXS	Illumina HiSeq	Phase_I	488	6	0.0122951	NM_024865	D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515301	0.27123	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91521	-2.82;-2.85;-2.86	4.21	1.72	0.24424	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.755127	0.12545	N	0.459592	D	0.84065	0.5390	L	0.52759	1.655	0.21184	N	0.999765	B	0.16802	0.019	B	0.19666	0.026	T	0.65882	-0.6060	10	0.14252	T	0.57	-5.4456	4.3062	0.10947	0.6859:0.204:0.1101:0.0	.	156	Q9H9S0	NANOG_HUMAN	S	132;156;156	ENSP00000444434:N132S;ENSP00000229307:N156S;ENSP00000435288:N156S	ENSP00000229307:N156S	N	+	2	0	NANOG	7838372	0.674000	0.27549	0.969000	0.41365	0.904000	0.53231	1.319000	0.33655	0.125000	0.18397	0.454000	0.30748	AAC	.	.	none		0.393	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		G	7947105	A	G	7947105	3	3	13	1	0	0	0	0	1	0	0	0	10150	43	2	2	477	2	NANOG	12	7947105	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	2925481	7947105	125904790	156	3220										
ATF7IP	55729	hgsc.bcm.edu	37	chr12	14577330	14577330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccacctctggtgatcccaccTctagcgagccctcctctagt	7	18	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:14577330T>C	ENST00000540793.1	+	1	636	c.481T>C	c.(481-483)Tct>Cct	p.S161P	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S161P|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S161P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S169P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S161P|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	161					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGATCCCACCTCTAGCGAGCC	0.587																																					p.S161P		Atlas-SNP	.											ATF7IP,NS,carcinoma,-1,1	ATF7IP	136	1	0			c.T481C						scavenged	.						74	69	71					12																	14577330		2203	4300	6503	SO:0001583	missense	55729	exon2			CCCACCTCTAGCG	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.481T>C	12.37:g.14577330T>C	ENSP00000444589:p.Ser161Pro	Somatic	222	3	0.0135135		WXS	Illumina HiSeq	Phase_I	279	5	0.0179211	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980962	0.53827	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000542967;ENST00000544627;ENST00000541056;ENST00000539057;ENST00000545769;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.26518	2.04;2.06;2.04;2.03;1.73;2.04	4.94	-0.197	0.13228	.	0.380812	0.23023	N	0.052830	T	0.17746	0.0426	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.009;0.003;0.003;0.001	B;B;B;B;B	0.16722	0.016;0.016;0.004;0.004;0.005	T	0.17137	-1.0379	10	0.62326	D	0.03	-1.6504	4.851	0.13537	0.0:0.1716:0.3056:0.5227	.	169;161;161;161;161	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	P	161;161;161;161;169;161;161;161;161;161	ENSP00000261168:S161P;ENSP00000443179:S161P;ENSP00000445955:S161P;ENSP00000440440:S169P;ENSP00000379575:S161P;ENSP00000444589:S161P	ENSP00000261168:S161P	S	+	1	0	ATF7IP	14468597	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.016000	0.12613	0.065000	0.16485	0.460000	0.39030	TCT	.	.	none		0.587	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		C	14577330	T	C	14577330	3	2	13	1	0	0	0	0	1	0	0	0	1087	1551	54	3	483	3	ATF7IP	12	14577330	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	6630225	14577330	119274565	157	3221										
PTPRO	5800	hgsc.bcm.edu	37	chr12	15637161	15637161	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgtggtgaccaagccatccaGatcaatcactgtgttaacaa	8	10	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:15637161G>A	ENST00000281171.4	+	2	659	c.329G>A	c.(328-330)aGa>aAa	p.R110K	PTPRO_ENST00000543886.1_Missense_Mutation_p.R110K|PTPRO_ENST00000348962.2_Missense_Mutation_p.R110K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	110	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCCATCCAGATCAATCACT	0.413																																					p.R110K		Atlas-SNP	.											.	PTPRO	148	.	0			c.G329A						PASS	.						95	95	95					12																	15637161		2203	4300	6503	SO:0001583	missense	5800	exon2			CATCCAGATCAAT	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.329G>A	12.37:g.15637161G>A	ENSP00000281171:p.Arg110Lys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	145	6	0.0413793	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606381	0.46527	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03889	3.78;3.77	5.58	4.69	0.59074	Fibronectin, type III (1);	0.000000	0.56097	D	0.000029	T	0.03564	0.0102	N	0.14661	0.345	0.80722	D	1	B;B;B	0.24963	0.049;0.029;0.115	B;B;B	0.24848	0.008;0.004;0.056	T	0.48843	-0.8999	10	0.48119	T	0.1	.	10.1372	0.42715	0.1479:0.0:0.8521:0.0	.	110;110;110	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	K	110	ENSP00000281171:R110K;ENSP00000343434:R110K	ENSP00000281171:R110K	R	+	2	0	PTPRO	15528428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.889000	0.56212	2.630000	0.89119	0.655000	0.94253	AGA	.	.	none		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15637161	G	A	15637161	3	1	13	1	0	0	0	0	1	0	0	0	12809	942	33	2	335	2	PTPRO	12	15637161	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1059831	15637161	118214734	158	3222										
PDE3A	5139	hgsc.bcm.edu	37	chr12	20787945	20787945	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgagagagcctctgaggaaAgcatcggcttgcagcaccta	12	11	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:20787945A>T	ENST00000359062.3	+	8	1996	c.1956A>T	c.(1954-1956)aaA>aaT	p.K652N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	652					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCTGAGGAAAGCATCGGCTT	0.433																																					p.K652N		Atlas-SNP	.											.	PDE3A	184	.	0			c.A1956T						PASS	.						135	114	121					12																	20787945		2203	4300	6503	SO:0001583	missense	5139	exon8			GAGGAAAGCATCG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1956A>T	12.37:g.20787945A>T	ENSP00000351957:p.Lys652Asn	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	111	7	0.0630631	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695201	0.15039	.	.	ENSG00000172572	ENST00000359062	T	0.62105	0.05	5.64	-0.807	0.10872	.	7739.210000	0.00166	N	0.000000	T	0.50565	0.1623	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.17501	-1.0367	10	0.27785	T	0.31	.	6.338	0.21306	0.4635:0.1377:0.3988:0.0	.	652	Q14432	PDE3A_HUMAN	N	652	ENSP00000351957:K652N	ENSP00000351957:K652N	K	+	3	2	PDE3A	20679212	0.993000	0.37304	0.091000	0.20842	0.139000	0.21198	1.258000	0.32944	-0.134000	0.11516	0.528000	0.53228	AAA	.	.	none		0.433	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20787945	A	T	20787945	3	4	13	1	0	0	0	0	1	0	0	0	11637	69	3	5	1986	5	PDE3A	12	20787945	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	5150784	20787945	113063950	159	3223										
GALNT6	11226	hgsc.bcm.edu	37	chr12	51754559	51754559	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atctccatctgattatcataGgtaccgatgtgctcaaagta	7	9	4	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:51754559G>T	ENST00000543196.2	-	6	1318	c.1113C>A	c.(1111-1113)acC>acA	p.T371T	GALNT6_ENST00000356317.3_Silent_p.T371T			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	371	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GATTATCATAGGTACCGATGT	0.542																																					p.T371T		Atlas-SNP	.											GALNT6,colon,NS,-2,1	GALNT6	63	1	0			c.C1113A						scavenged	.						112	97	102					12																	51754559		2203	4300	6503	SO:0001819	synonymous_variant	11226	exon7			ATCATAGGTACCG	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1113C>A	12.37:g.51754559G>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																			.	.	none		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		T	51754559	G	T	51754559	2	4	13	1	0	0	0	0	0	0	0	1	6217	987	35	4		4	GALNT6	12	51754559	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	30966614	51754559	82097336	160	3224										
SCN8A	6334	hgsc.bcm.edu	37	chr12	52200868	52200868	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggggagttggacatcctgcgGcagcagatggaagagcggtt	18	7	0	2	rs530351787		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:52200868G>T	ENST00000354534.6	+	27	5776	c.5598G>T	c.(5596-5598)cgG>cgT	p.R1866R	AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Silent_p.R1825R|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1866					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACATCCTGCGGCAGCAGATGG	0.562																																					p.R1866R		Atlas-SNP	.											SCN8A_ENST00000354534,NS,carcinoma,+2,4	SCN8A	331	4	0			c.G5598T						scavenged	.						100	108	105					12																	52200868		2084	4226	6310	SO:0001819	synonymous_variant	6334	exon27			CCTGCGGCAGCAG	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5598G>T	12.37:g.52200868G>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																			.	.	none		0.562	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		T	52200868	G	T	52200868	2	4	13	1	0	0	0	0	0	0	0	1	13924	1190	42	4		4	SCN8A	12	52200868	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	446309	52200868	81651027	161	3225										
KRT4	3851	hgsc.bcm.edu	37	chr12	53207583	53207583	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgaaggagcccccaaatccaCcaccaaagccaccagtgcca	7	17	0	1	rs76773498|rs11267392	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:53207583C>G	ENST00000551956.1	-	1	752	c.260G>C	c.(259-261)gGt>gCt	p.G87A	KRT4_ENST00000293774.4_Missense_Mutation_p.G161A|KRT4_ENST00000458244.2_Missense_Mutation_p.G67A			P19013	K2C4_HUMAN	keratin 4	87	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCAAATCCACCACCAAAGCC	0.602																																					p.G87A	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											KRT4,rectum,carcinoma,+1,2	KRT4	110	2	0			c.G260C						scavenged	.						43	59	54					12																	53207583		2120	4256	6376	SO:0001583	missense	3851	exon1			AATCCACCACCAA		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.260G>C	12.37:g.53207583C>G	ENSP00000448220:p.Gly87Ala	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	67	7	0.104478	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614915	0.28712	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.98717	-3.14;0.68;-5.09	5.14	4.25	0.50352	.	0.974741	0.08394	N	0.952444	D	0.97123	0.9060	L	0.45581	1.43	0.29836	N	0.829633	B	0.21071	0.051	B	0.17979	0.02	D	0.93594	0.6924	10	0.31617	T	0.26	.	14.3364	0.66592	0.1484:0.8516:0.0:0.0	.	101	P19013	K2C4_HUMAN	A	87;161;67	ENSP00000448220:G87A;ENSP00000293774:G161A;ENSP00000387904:G67A	ENSP00000293774:G161A	G	-	2	0	KRT4	51493850	0.011000	0.17503	0.856000	0.33681	0.125000	0.20455	0.972000	0.29409	1.483000	0.48342	0.585000	0.79938	GGT	.	.	weak		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		G	53207583	C	G	53207583	3	3	13	1	0	0	0	0	1	0	0	0	8477	507	18	4	1338	4	KRT4	12	53207583	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1006715	53207583	80644312	162	3226										
ITGA5	3678	hgsc.bcm.edu	37	chr12	54792481	54792481	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggctaaatggctggtgctccCgctgtgggtaggggaaagtt	17	7	0	0	rs370125974		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:54792481C>T	ENST00000293379.4	-	28	3104	c.2843G>A	c.(2842-2844)cGg>cAg	p.R948Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	948					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R948Q(1)|p.R948L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTGGTGCTCCCGCTGTGGGTA	0.552																																					p.R948Q		Atlas-SNP	.											ITGA5,colon,carcinoma,-1,2	ITGA5	99	2	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2843A						scavenged	.	C	GLN/ARG	0,4406		0,0,2203	79	70	73		2843	-0.5	0	12		73	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	ITGA5	NM_002205.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	948/1050	54792481	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3678	exon28			TGCTCCCGCTGTG		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2842-1G>A	12.37:g.54792481C>T		Somatic	138	2	0.0144928		WXS	Illumina HiSeq	Phase_I	165	4	0.0242424	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.125|9.125	1.009893|1.009893	0.19277|0.19277	0.0|0.0	1.16E-4|1.16E-4	ENSG00000161638|ENSG00000161638	ENST00000547197|ENST00000293379	.|T	.|0.50813	.|0.73	5.25|5.25	-0.516|-0.516	0.11950|0.11950	.|.	.|0.656381	.|0.14482	.|N	.|0.316913	T|T	0.38983|0.38983	0.1061|0.1061	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	.|B	.|0.18013	.|0.025	.|B	.|0.12156	.|0.007	T|T	0.36311|0.36311	-0.9753|-0.9753	5|10	.|0.66056	.|D	.|0.02	.|.	4.7958|4.7958	0.13272|0.13272	0.1412:0.4074:0.0:0.4515|0.1412:0.4074:0.0:0.4515	.|.	.|948	.|P08648	.|ITA5_HUMAN	R|Q	18|948	.|ENSP00000293379:R948Q	.|ENSP00000293379:R948Q	G|R	-|-	1|2	0|0	ITGA5|ITGA5	53078748|53078748	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.011000|0.011000	0.07611|0.07611	-0.034000|-0.034000	0.12225|0.12225	-0.310000|-0.310000	0.08766|0.08766	-0.345000|-0.345000	0.07892|0.07892	GGG|CGG	.	.	weak		0.552	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		Missense_Mutation	T	54792481	C	T	54792481	5	4	13	1	0	0	0	0	0	0	1	0	7879	666	23	1	318	1	ITGA5	12	54792481	Splice_Site	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1584898	54792481	79059414	163	3227										
KCNC2	3747	hgsc.bcm.edu	37	chr12	75444965	75444965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aggatccgtttcaatttcatActgtagaacaacacttgtgc	7	9	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:75444965A>G	ENST00000549446.1	-	3	1500	c.820T>C	c.(820-822)Tat>Cat	p.Y274H	KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000298972.1_Missense_Mutation_p.Y274H|KCNC2_ENST00000548513.1_Missense_Mutation_p.Y274H|KCNC2_ENST00000350228.2_Missense_Mutation_p.Y274H|KCNC2_ENST00000540018.1_Missense_Mutation_p.Y274H|KCNC2_ENST00000341669.3_Missense_Mutation_p.Y274H|KCNC2_ENST00000550433.1_Missense_Mutation_p.Y274H|KCNC2_ENST00000393288.2_Missense_Mutation_p.Y274H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	274					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TCAATTTCATACTGTAGAACA	0.363																																					p.Y274H		Atlas-SNP	.											KCNC2_ENST00000549446,NS,carcinoma,0,2	KCNC2	239	2	0			c.T820C						scavenged	.						154	141	145					12																	75444965		2203	4300	6503	SO:0001583	missense	3747	exon3			TTTCATACTGTAG	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.820T>C	12.37:g.75444965A>G	ENSP00000449253:p.Tyr274His	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	A	7.178	0.589014	0.13812	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.52	5.52	0.82312	.	0.468974	0.15856	U	0.241255	D	0.92835	0.7721	N	0.19112	0.55	0.51012	D	0.999909	B;B;B;B;B	0.15141	0.0;0.001;0.0;0.001;0.012	B;B;B;B;B	0.19666	0.005;0.007;0.002;0.005;0.026	D	0.88903	0.3354	10	0.32370	T	0.25	.	10.7935	0.46447	0.8585:0.0:0.0:0.1415	.	274;274;274;274;274	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	H	274	ENSP00000448301:Y274H;ENSP00000449941:Y274H;ENSP00000449253:Y274H;ENSP00000340121:Y274H;ENSP00000298972:Y274H;ENSP00000319877:Y274H;ENSP00000438423:Y274H;ENSP00000376966:Y274H	ENSP00000298972:Y274H	Y	-	1	0	KCNC2	73731232	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	4.644000	0.61397	2.218000	0.71995	0.533000	0.62120	TAT	.	.	none		0.363	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		G	75444965	A	G	75444965	3	3	13	1	0	0	0	0	1	0	0	0	8015	391	14	2	1174	2	KCNC2	12	75444965	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	20652484	75444965	58406930	164	3228										
MAPKAPK5	8550	hgsc.bcm.edu	37	chr12	112318333	112318333	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gccctacacttacaacaaggTacaggaagagatatttctct	7	10	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:112318333T>A	ENST00000551404.2	+	8	768		c.e8+2		MAPKAPK5_ENST00000550735.2_Splice_Site			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5						activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(1)|lung(11)|ovary(1)	13						TACAACAAGGTACAGGAAGAG	0.502																																					.		Atlas-SNP	.											MAPKAPK5,NS,carcinoma,0,1	MAPKAPK5	56	1	1	Unknown(1)	ovary(1)	c.660+2T>A						scavenged	.						126	116	119					12																	112318333		1961	4144	6105	SO:0001630	splice_region_variant	8550	exon8			ACAAGGTACAGGA	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.660+2T>A	12.37:g.112318333T>A		Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	89	3	0.0337079	NM_139078	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Splice_Site	SNP	ENST00000551404.2	37	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009017	0.75046	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKAPK5	110802716	1.000000	0.71417	0.992000	0.48379	0.724000	0.41520	5.970000	0.70431	2.302000	0.77476	0.533000	0.62120	.	.	.	none		0.502	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078	Intron	A	112318333	T	A	112318333	5	1	13	1	0	0	0	0	0	0	1	0	9291	1652	57	5	692	5	MAPKAPK5	12	112318333	Splice_Site	SNP	T	TCGA-FF-8046-01A-11D-2210-10	36873368	112318333	21533562	165	3229										
C12orf51	283450	hgsc.bcm.edu	37	chr12	112616820	112616820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caccttcacggggtgctgctCcttcccggccttgctgtact	10	16	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:112616820C>T	ENST00000430131.2	-	63	11157	c.10012G>A	c.(10012-10014)Gag>Aag	p.E3338K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E3588K|HECTD4_ENST00000550722.1_Missense_Mutation_p.E3614K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3338					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)										GGGTGCTGCTCCTTCCCGGCC	0.617																																					p.E3626K		Atlas-SNP	.											C12orf51_ENST00000377560,NS,carcinoma,+2,2	.	.	2	0			c.G10876A						scavenged	.						40	43	42					12																	112616820		2084	4220	6304	SO:0001583	missense	283450	exon64			GCTGCTCCTTCCC	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.10012G>A	12.37:g.112616820C>T	ENSP00000404379:p.Glu3338Lys	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	133	2	0.0150376	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.671516	0.96754	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52526	0.66;0.66;0.66	5.51	5.51	0.81932	.	.	.	.	.	T	0.55784	0.1942	N	0.19112	0.55	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.61302	-0.7090	9	0.87932	D	0	.	19.3944	0.94601	0.0:1.0:0.0:0.0	.	3338	Q9Y4D8	K0614_HUMAN	K	3588;3338;3614	ENSP00000366783:E3588K;ENSP00000404379:E3338K;ENSP00000449784:E3614K	ENSP00000366783:E3588K	E	-	1	0	C12orf51	111101203	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.487000	0.81328	2.574000	0.86865	0.591000	0.81541	GAG	.	.	none		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112616820	C	T	112616820	3	4	13	1	0	0	0	0	1	0	0	0	1696	864	30	2	2030	2	C12orf51	12	112616820	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	298487	112616820	21235075	166	3230										
FBXW8	26259	hgsc.bcm.edu	37	chr12	117465850	117465850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tagacaccgggggctgatccGcgcctatgagtttgcggtgg	16	10	0	3	rs368052577	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:117465850G>A	ENST00000309909.5	+	11	1752	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H	FBXW8_ENST00000455858.2_Missense_Mutation_p.R491H			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	557					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.R557H(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGCTGATCCGCGCCTATGAG	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		17432	0.003		0.0	False		,,,				2504	0.0				p.R557H		Atlas-SNP	.											FBXW8,colon,carcinoma,0,3	FBXW8	53	3	1	Substitution - Missense(1)	large_intestine(1)	c.G1670A						scavenged	.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	98	75	83		1472,1670	3.8	1	12		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXW8	NM_012174.1,NM_153348.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	491/533,557/599	117465850	1,13005	2203	4300	6503	SO:0001583	missense	26259	exon11			TGATCCGCGCCTA	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1670G>A	12.37:g.117465850G>A	ENSP00000310686:p.Arg557His	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_153348	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	G	4.609	0.113274	0.08831	0.0	1.16E-4	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.09630	2.98;2.96	4.93	3.8	0.43715	.	0.408444	0.30528	N	0.009438	T	0.05090	0.0136	N	0.10809	0.05	0.22401	N	0.999134	B;B	0.15141	0.012;0.009	B;B	0.08055	0.003;0.002	T	0.43114	-0.9411	10	0.14656	T	0.56	-7.0038	8.3216	0.32132	0.9062:0.0:0.0938:0.0	.	557;491	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	H	557;491;491	ENSP00000310686:R557H;ENSP00000389144:R491H	ENSP00000310686:R557H	R	+	2	0	FBXW8	115950233	0.989000	0.36119	0.977000	0.42913	0.406000	0.30931	2.837000	0.48191	0.734000	0.32515	-0.469000	0.05056	CGC	.	.	weak		0.622	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		A	117465850	G	A	117465850	3	1	13	1	0	0	0	0	1	0	0	0	5770	1087	38	1	1712	1	FBXW8	12	117465850	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	4849030	117465850	16386045	167	3231										
VPS33A	65082	hgsc.bcm.edu	37	chr12	122748725	122748725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	caggccaaagggtccagttaGgtattcatcccaaactattg	9	10	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:122748725G>A	ENST00000267199.4	-	2	236	c.124C>T	c.(124-126)Cta>Tta	p.L42L	VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	42					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGTCCAGTTAGGTATTCATCC	0.343																																					p.L42L		Atlas-SNP	.											VPS33A,NS,carcinoma,+2,1	VPS33A	61	1	0			c.C124T						scavenged	.						128	129	129					12																	122748725		2203	4299	6502	SO:0001819	synonymous_variant	65082	exon2			CAGTTAGGTATTC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.124C>T	12.37:g.122748725G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	185	3	0.0162162	NM_022916	Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																			.	.	none		0.343	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			A	122748725	G	A	122748725	2	1	13	1	0	0	0	0	0	0	0	1	17198	991	35	2		2	VPS33A	12	122748725	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	5282875	122748725	11103170	168	3232										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124398985	124398985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gagccttcacctgggagttcCgtgacgagatggtcaatcgg	14	10	2	2	rs369076491		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:124398985C>T	ENST00000409039.3	+	60	10133	c.10108C>T	c.(10108-10110)Cgt>Tgt	p.R3370C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3370					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGGAGTTCCGTGACGAGAT	0.607																																					p.R3370C		Atlas-SNP	.											DNAH10_same_name,NS,carcinoma,-1,2	DNAH10	888	2	0			c.C10108T						scavenged	.	C	CYS/ARG	0,4084		0,0,2042	61	68	65		10108	5.3	1	12		65	1,8391		0,1,4195	no	missense	DNAH10	NM_207437.3	180	0,1,6237	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	3370/4472	124398985	1,12475	2042	4196	6238	SO:0001583	missense	196385	exon60			GAGTTCCGTGACG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10108C>T	12.37:g.124398985C>T	ENSP00000386770:p.Arg3370Cys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101676	0.76983	0.0	1.19E-4	ENSG00000197653	ENST00000409039	T	0.81163	-1.46	5.28	5.28	0.74379	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96221	0.9160	10	0.87932	D	0	.	18.9088	0.92474	0.0:1.0:0.0:0.0	.	3370	Q8IVF4	DYH10_HUMAN	C	3370	ENSP00000386770:R3370C	ENSP00000386770:R3370C	R	+	1	0	DNAH10	122964938	1.000000	0.71417	0.997000	0.53966	0.542000	0.35054	6.147000	0.71783	2.449000	0.82847	0.561000	0.74099	CGT	.	.	weak		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124398985	C	T	124398985	3	4	13	1	0	0	0	0	1	0	0	0	4598	652	23	1	10346	1	DNAH10	12	124398985	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1650260	124398985	9452910	169	3233										
EP400	57634	hgsc.bcm.edu	37	chr12	132474551	132474551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atcacgaggagaagcagctcCgtgaagaaagggggaagaag	16	6	1	4	rs146333218		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr12:132474551C>T	ENST00000333577.4	+	9	2669	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C	EP400_ENST00000389561.2_Missense_Mutation_p.R818C|EP400_ENST00000330386.6_Missense_Mutation_p.R818C|EP400_ENST00000389562.2_Missense_Mutation_p.R817C|EP400_ENST00000332482.4_Missense_Mutation_p.R781C			Q96L91	EP400_HUMAN	E1A binding protein p400	854	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCAGCTCCGTGAAGAAAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19217	0.001		0.0	False		,,,				2504	0.0				p.R818C		Atlas-SNP	.											EP400,NS,carcinoma,-1,1	EP400	370	1	0			c.C2452T						scavenged	.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	65	64	65		2452	5.1	0.8	12	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EP400	NM_015409.4	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	818/3124	132474551	3,13003	2203	4300	6503	SO:0001583	missense	57634	exon8			CAGCTCCGTGAAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2560C>T	12.37:g.132474551C>T	ENSP00000333602:p.Arg854Cys	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.52	2.262285	0.39995	2.27E-4	2.33E-4	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.69;-2.7	5.11	5.11	0.69529	.	0.213333	0.50627	D	0.000119	D	0.89339	0.6687	L	0.32530	0.975	0.46222	D	0.998932	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.983;0.998	P;P;P;P;P	0.53649	0.731;0.648;0.731;0.599;0.731	D	0.89546	0.3796	10	0.56958	D	0.05	.	12.1625	0.54110	0.288:0.712:0.0:0.0	.	818;818;817;854;781	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	C	781;854;818;817;781;818;854;818;818	ENSP00000333602:R854C;ENSP00000374212:R818C;ENSP00000374213:R817C;ENSP00000331737:R781C;ENSP00000330620:R818C	ENSP00000330620:R818C	R	+	1	0	EP400	131040504	0.013000	0.17824	0.822000	0.32727	0.706000	0.40770	1.509000	0.35780	2.539000	0.85634	0.603000	0.83216	CGT	C|1.000;T|0.000	0.000	strong		0.498	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132474551	C	T	132474551	3	4	13	1	0	0	0	0	1	0	0	0	5149	652	23	1	2475	1	EP400	12	132474551	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	8075566	132474551	1377344	170	3234										
AKAP11	11215	hgsc.bcm.edu	37	chr13	42888041	42888041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	attcataagtgatggaccagAtgataaagatgaagagcatg	11	4	1	6			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr13:42888041A>G	ENST00000025301.2	+	11	5544	c.5369A>G	c.(5368-5370)gAt>gGt	p.D1790G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1790					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GATGGACCAGATGATAAAGAT	0.294																																					p.D1790G		Atlas-SNP	.											AKAP11,trunk,malignant_melanoma,+1,1	AKAP11	146	1	0			c.A5369G						scavenged	.						212	196	201					13																	42888041		2203	4300	6503	SO:0001583	missense	11215	exon11			GACCAGATGATAA	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5369A>G	13.37:g.42888041A>G	ENSP00000025301:p.Asp1790Gly	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	206	3	0.0145631	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999310	0.74818	.	.	ENSG00000023516	ENST00000025301	T	0.14516	2.5	5.83	5.83	0.93111	.	0.067077	0.64402	D	0.000017	T	0.33235	0.0856	M	0.67953	2.075	0.44247	D	0.997092	D	0.63046	0.992	P	0.59357	0.856	T	0.02821	-1.1106	10	0.66056	D	0.02	.	16.214	0.82191	1.0:0.0:0.0:0.0	.	1790	Q9UKA4	AKA11_HUMAN	G	1790	ENSP00000025301:D1790G	ENSP00000025301:D1790G	D	+	2	0	AKAP11	41786041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.778000	0.75043	2.224000	0.72417	0.528000	0.53228	GAT	.	.	none		0.294	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		G	42888041	A	G	42888041	3	3	13	1	0	0	0	0	1	0	0	0	447	333	12	2	5403	2	AKAP11	13	42888041	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10		42888041	72281837	171	3235										
TMTC4	84899	hgsc.bcm.edu	37	chr13	101287335	101287335	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aaagtcagcagcacacagtaCccaacgctggggaggtagag	13	10	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr13:101287335C>A	ENST00000376234.3	-	10	1449	c.1260G>T	c.(1258-1260)ggG>ggT	p.G420G	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.G309G|TMTC4_ENST00000342624.5_Silent_p.G439G	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	420						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCACACAGTACCCAACGCTGG	0.537																																					p.G439G		Atlas-SNP	.											.	TMTC4	103	.	0			c.G1317T						PASS	.						84	77	79					13																	101287335		2203	4300	6503	SO:0001819	synonymous_variant	84899	exon11			ACAGTACCCAACG		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1260G>T	13.37:g.101287335C>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	216	12	0.0555556	NM_032813	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																			.	.	none		0.537	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		A	101287335	C	A	101287335	2	1	13	1	0	0	0	0	0	0	0	1	16260	494	18	4		4	TMTC4	13	101287335	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	58399294	101287335	13882543	172	3236										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103504506	103504506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	accaagcacttaaaggagtcCgggatcgccatgggaactca	11	11	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr13:103504506C>G	ENST00000355739.4	+	2	1550	c.127C>G	c.(127-129)Cgg>Ggg	p.R43G	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468R|ERCC5_ENST00000535557.1_Missense_Mutation_p.R43G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	43	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAGGAGTCCGGGATCGCCA	0.378			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R497G		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.C1489G						PASS	.						128	131	130					13																	103504506		2203	4300	6503	SO:0001583	missense	0	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GGAGTCCGGGATC	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.127C>G	13.37:g.103504506C>G	ENSP00000347978:p.Arg43Gly	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	180	47	0.261111	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136257	0.37728	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.69435	-0.4;-0.4	5.39	3.47	0.39725	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.79258	2.445	0.53005	D	0.999964	P;P;D	0.64830	0.933;0.954;0.994	D;P;P	0.63033	0.91;0.765;0.903	T	0.77948	-0.2396	10	0.62326	D	0.03	-16.4647	8.4298	0.32750	0.2594:0.6527:0.0:0.0879	.	43;43;468	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	G	468;43;43	ENSP00000347978:R43G;ENSP00000442117:R43G	ENSP00000347978:R43G	R	+	1	2	ERCC5	102302507	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.390000	0.44416	1.269000	0.44280	-0.233000	0.12211	CGG	.	.	none		0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			G	103504506	C	G	103504506	3	3	13	1	0	0	0	0	1	0	0	0	5216	643	23	4	133	4	ERCC5	13	103504506	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	2217171	103504506	11665372	173	3237										
FAM155A	728215	hgsc.bcm.edu	37	chr13	108518716	108518727	+	In_Frame_Del	DEL	GCTGCTGCTGCT	GCTGCTGCTGCT	-													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgctgctgctgctgctgccGctgctgctgctggtgctcct					rs80103752|rs3832903|rs372708176	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	GCTGCTGCTGCT	GCTGCTGCTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr13:108518716_108518727delGCTGCTGCTGCT	ENST00000375915.2	-	1	356_367	c.218_229delAGCAGCAGCAGC	c.(217-231)cagcagcagcagcgg>cgg	p.QQQQ73del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	73	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						tgctgctgccgctgctgctgctggtgctCCTT	0.66														438	0.0874601	0.0053	0.0663	5008	,	,		13537	0.2073		0.0636	False		,,,				2504	0.1145				p.73_77del		Atlas-Indel	.											.	FAM155A	82	.	0			c.219_230del						PASS	.			4,1057,3167		0,0,4,341,375,1394						-0.3	1		dbSNP_107	26	7,2311,5888		0,0,7,542,1227,2327	no	codingComplex	FAM155A	NM_001080396.2		0,0,11,883,1602,3721	A1A1,A1A2,A1R,A2A2,A2R,RR		28.2476,25.0946,27.1755				11,3368,9055				SO:0001651	inframe_deletion	728215	exon1			.	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.218_229delAGCAGCAGCAGC	13.37:g.108518716_108518727delGCTGCTGCTGCT	ENSP00000365080:p.Gln73_Gln76del	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	18	12	0.666667	NM_001080396	B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	CCDS32006.1																																																																																			GCTGCTGCTGCT|0.909;-|0.091	0.091	strong		0.66	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		-	108518727	GCTGCTGCTGCT	-	108518716	7	5	13	1	0	1	0	1	0	0	0	0	5465	1086	38	0	1159	0	FAM155A	13	108518716	In_Frame_Del	DEL	GCTGCTGCTGCT	TCGA-FF-8046-01A-11D-2210-10	5014210	108518716	6651162	174	3238										
OR11H4	390442	hgsc.bcm.edu	37	chr14	20711205	20711205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cttgagatctggtatgtgtcCtccactattcctaacatgct	7	11	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:20711205C>T	ENST00000315409.2	+	1	308	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S85S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GGTATGTGTCCTCCACTATTC	0.453																																					p.S85S		Atlas-SNP	.											OR11H4,rectum,carcinoma,0,7	OR11H4	63	7	1	Substitution - coding silent(1)	ovary(1)	c.C255T						scavenged	.						168	162	164					14																	20711205		2203	4300	6503	SO:0001819	synonymous_variant	390442	exon1			TGTGTCCTCCACT		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.255C>T	14.37:g.20711205C>T		Somatic	309	0	0		WXS	Illumina HiSeq	Phase_I	296	3	0.0101351	NM_001004479	B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	CCDS32034.1																																																																																			.	.	none		0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			T	20711205	C	T	20711205	2	4	13	1	0	0	0	0	0	0	0	1	10928	668	24	2		2	OR11H4	14	20711205	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10		20711205	86638335	175	3239										
SALL2	6297	hgsc.bcm.edu	37	chr14	21992636	21992636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggttgccacgggtggtaaaaCggtttccacagacattgcac	12	10	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:21992636C>T	ENST00000327430.3	-	2	1520	c.1226G>A	c.(1225-1227)cGt>cAt	p.R409H	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.R272H|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R409H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTGGTAAAACGGTTTCCACA	0.537																																					p.R409H		Atlas-SNP	.											SALL2,scalp,malignant_melanoma,-1,2	SALL2	95	2	1	Substitution - Missense(1)	large_intestine(1)	c.G1226A						scavenged	.						124	103	110					14																	21992636		2203	4300	6503	SO:0001583	missense	6297	exon2			GTAAAACGGTTTC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1226G>A	14.37:g.21992636C>T	ENSP00000333537:p.Arg409His	Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	200	2	0.01	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160985|4.160985	0.78226|0.78226	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.53640|.	0.61;0.61|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.38111|.	N|.	0.001809|.	T|T	0.55893|0.55893	0.1949|0.1949	L|L	0.33093|0.33093	0.98|0.98	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.51896|0.51896	-0.8647|-0.8647	10|5	0.87932|.	D|.	0|.	-36.6116|-36.6116	15.0135|15.0135	0.71567|0.71567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272;407;409|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	H|I	409;272;409|268	ENSP00000333537:R409H;ENSP00000396773:R272H|.	ENSP00000333537:R409H|.	R|V	-|-	2|1	0|0	SALL2|SALL2	21062476|21062476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.651000|7.651000	0.83577|0.83577	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	CGT|GTT	.	.	none		0.537	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21992636	C	T	21992636	3	4	13	1	0	0	0	0	1	0	0	0	13811	536	19	1	1801	1	SALL2	14	21992636	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1281431	21992636	85356904	176	3240										
PCK2	5106	hgsc.bcm.edu	37	chr14	24573041	24573041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gacaccactcagctgttctcCctccccaaggacttctggga	8	16	3	0	rs544648134		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:24573041C>T	ENST00000216780.4	+	10	2059	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	PCK2_ENST00000561286.1_Silent_p.S463S|PCK2_ENST00000558096.1_Silent_p.S431S|PCK2_ENST00000545054.2_Silent_p.S463S|PCK2_ENST00000559250.1_Intron|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	597					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGCTGTTCTCCCTCCCCAAGG	0.577																																					p.S597S		Atlas-SNP	.											PCK2,NS,carcinoma,+1,1	PCK2	66	1	0			c.C1791T						scavenged	.						95	93	94					14																	24573041		2203	4300	6503	SO:0001819	synonymous_variant	5106	exon10			GTTCTCCCTCCCC	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1791C>T	14.37:g.24573041C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	187	3	0.0160428	NM_004563	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																			.	.	none		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		T	24573041	C	T	24573041	2	4	13	1	0	0	0	0	0	0	0	1	11582	610	22	2		2	PCK2	14	24573041	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	2580405	24573041	82776499	177	3241										
C14orf126	112487	hgsc.bcm.edu	37	chr14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgcccgggcctgaggaatccGgctaccctcagccatggctt	12	16	1	1	rs17097904	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	DTD2_ENST00000356180.4_Missense_Mutation_p.R6W|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																					p.R6W		Atlas-SNP	.											C14orf126,third_ventricle,glioma,0,2	.	.	2	1	Substitution - Missense(1)	skin(1)	c.C16T						scavenged	.						12	12	12					14																	31926584		2183	4278	6461	SO:0001583	missense	112487	exon1			GAATCCGGCTACC	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp	Somatic	96	3	0.03125		WXS	Illumina HiSeq	Phase_I	103	8	0.0776699	NM_080664	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG	.	.	weak		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31926584	G	A	31926584	3	1	13	1	0	0	0	0	1	0	0	0	1743	1115	39	1	502	1	C14orf126	14	31926584	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	7353543	31926584	75422956	178	3242										
RPL10L	140801	hgsc.bcm.edu	37	chr14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	accggtaacagcgagctggaCggcgccccatggcgacacag	14	14	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:47120929C>T	ENST00000298283.3	-	1	99	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557																																					p.R4H		Atlas-SNP	.											RPL10L,NS,carcinoma,-1,2	RPL10L	64	2	0			c.G11A						scavenged	.						67	71	70					14																	47120929		2203	4300	6503	SO:0001583	missense	140801	exon1			GCTGGACGGCGCC	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.11G>A	14.37:g.47120929C>T	ENSP00000298283:p.Arg4His	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	96	3	0.03125	NM_080746	Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768815	0.31320	.	.	ENSG00000165496	ENST00000298283	T	0.77877	-1.13	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	T	0.81749	0.4888	M	0.92691	3.335	0.58432	D	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.82348	-0.0502	10	0.66056	D	0.02	-25.8262	12.6152	0.56573	0.0:1.0:0.0:0.0	.	4	Q96L21	RL10L_HUMAN	H	4	ENSP00000298283:R4H	ENSP00000298283:R4H	R	-	2	0	RPL10L	46190679	0.990000	0.36364	0.972000	0.41901	0.223000	0.24884	3.208000	0.51114	2.688000	0.91661	0.655000	0.94253	CGT	.	.	none		0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			T	47120929	C	T	47120929	3	4	13	1	0	0	0	0	1	0	0	0	13556	536	19	1	637	1	RPL10L	14	47120929	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	15194345	47120929	60228611	179	3243										
KIAA0586	9786	hgsc.bcm.edu	37	chr14	58910793	58910793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aagcattcagaggaaacaagAgaaattacattgtcatgatc	8	6	2	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr14:58910793A>G	ENST00000556134.1	+	7	936	c.662A>G	c.(661-663)gAg>gGg	p.E221G	KIAA0586_ENST00000354386.6_Missense_Mutation_p.E289G|KIAA0586_ENST00000423743.3_Missense_Mutation_p.E192G|Y_RNA_ENST00000516389.1_RNA|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E236G|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	221					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGAAACAAGAGAAATTACAT	0.348																																					p.E289G		Atlas-SNP	.											KIAA0586_ENST00000261244,colon,carcinoma,-1,2	KIAA0586	180	2	0			c.A866G						scavenged	.						99	90	93					14																	58910793		1941	4145	6086	SO:0001583	missense	9786	exon8			AACAAGAGAAATT	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.662A>G	14.37:g.58910793A>G	ENSP00000452351:p.Glu221Gly	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	365	4	0.0109589	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486674	0.63962	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.84	4.71	0.59529	.	0.159354	0.44483	D	0.000446	T	0.71005	0.3289	M	0.62723	1.935	0.27723	N	0.945078	P;D;D;D;D;P	0.89917	0.873;0.977;1.0;0.977;0.977;0.873	P;P;D;P;P;P	0.87578	0.523;0.73;0.998;0.73;0.73;0.599	T	0.65071	-0.6257	10	0.87932	D	0	.	11.0593	0.47938	0.9273:0.0:0.0727:0.0	.	96;96;289;236;221;192	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	G	289;221;192;151;236;96	ENSP00000346359:E289G;ENSP00000452351:E221G;ENSP00000399427:E192G;ENSP00000450855:E151G;ENSP00000261244:E236G	ENSP00000261244:E236G	E	+	2	0	KIAA0586	57980546	1.000000	0.71417	0.290000	0.24890	0.520000	0.34377	4.681000	0.61663	2.234000	0.73211	0.528000	0.53228	GAG	.	.	none		0.348	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		G	58910793	A	G	58910793	3	3	13	1	0	0	0	0	1	0	0	0	8186	304	11	3	729	3	KIAA0586	14	58910793	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	11789864	58910793	48438747	180	3244										
HERC2	8924	hgsc.bcm.edu	37	chr15	28361877	28361877	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gctgagcaggtagcagtctcGgttggccccagactcatccc	12	14	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:28361877G>T	ENST00000261609.7	-	88	13651	c.13543C>A	c.(13543-13545)Cga>Aga	p.R4515R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAGCAGTCTCGGTTGGCCCCA	0.627																																					p.R4515R		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C13543A						scavenged	.						90	85	87					15																	28361877		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon88			AGTCTCGGTTGGC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13543C>A	15.37:g.28361877G>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	194	2	0.0103093	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.	.	none		0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28361877	G	T	28361877	2	4	13	1	0	0	0	0	0	0	0	1	7058	1124	39	4		4	HERC2	15	28361877	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10		28361877	74169515	181	3245										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48052516	48052516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgcagattcaaggcaatatcCggtttttagaggacgccctt	10	9	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:48052516C>T	ENST00000316364.5	+	3	564	c.125C>T	c.(124-126)cCg>cTg	p.P42L	SEMA6D_ENST00000558014.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P42L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P42L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P42L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P42L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P42L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	42	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P42L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGGCAATATCCGGTTTTTAGA	0.418																																					p.P42L		Atlas-SNP	.											SEMA6D,colon,NS,0,1	SEMA6D	322	1	1	Substitution - Missense(1)	large_intestine(1)	c.C125T						scavenged	.						100	91	94					15																	48052516		2198	4297	6495	SO:0001583	missense	80031	exon3			AATATCCGGTTTT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.125C>T	15.37:g.48052516C>T	ENSP00000324857:p.Pro42Leu	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	245	4	0.0163265	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369794	0.82573	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.27104	2.27;2.04;2.04;2.08;2.27;2.27;2.27;2.26;2.22;1.69	5.76	5.76	0.90799	Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.993;0.889;0.993;0.996;0.948	T	0.59456	-0.7451	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	42;42;42;42;42	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	42	ENSP00000442040:P42L;ENSP00000446152:P42L;ENSP00000324857:P42L;ENSP00000374084:P42L;ENSP00000374083:P42L;ENSP00000346786:P42L;ENSP00000350770:P42L;ENSP00000374079:P42L;ENSP00000348276:P42L;ENSP00000374076:P42L	ENSP00000324857:P42L	P	+	2	0	SEMA6D	45839808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.726000	0.93360	0.655000	0.94253	CCG	.	.	none		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		T	48052516	C	T	48052516	3	4	13	1	0	0	0	0	1	0	0	0	14042	652	23	1	131	1	SEMA6D	15	48052516	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	19690639	48052516	54478876	182	3246										
TRPM7	54822	hgsc.bcm.edu	37	chr15	50901921	50901921	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccgtacttctttaaacacttCctaaaattaaaaaaaaaaaa	1	8	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:50901921C>T	ENST00000313478.7	-	19	2718	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	TRPM7_ENST00000560955.1_Splice_Site_p.E813K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	813					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTAAACACTTCCtaaaattaa	0.279																																					p.E813K		Atlas-SNP	.											TRPM7,NS,other,+2,1	TRPM7	145	1	0			c.G2437A						scavenged	.						93	83	86					15																	50901921		1784	4047	5831	SO:0001630	splice_region_variant	54822	exon19			ACACTTCCTAAAA	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2437-1G>A	15.37:g.50901921C>T		Somatic	77	1	0.012987		WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098049	0.37048	.	.	ENSG00000092439	ENST00000313478	T	0.62941	-0.01	5.65	5.65	0.86999	.	0.152298	0.64402	D	0.000016	T	0.35158	0.0922	N	0.05383	-0.06	0.53688	D	0.999975	P	0.38922	0.651	B	0.25140	0.058	T	0.34950	-0.9808	10	0.24483	T	0.36	-23.2072	12.9996	0.58667	0.0:0.9262:0.0:0.0738	.	813	Q96QT4	TRPM7_HUMAN	K	813	ENSP00000320239:E813K	ENSP00000320239:E813K	E	-	1	0	TRPM7	48689213	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.782000	0.68973	2.680000	0.91292	0.467000	0.42956	GAA	.	.	none		0.279	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	Missense_Mutation	T	50901921	C	T	50901921	5	4	13	1	0	0	0	0	0	0	1	0	16588	869	30	2	3244	2	TRPM7	15	50901921	Splice_Site	SNP	C	TCGA-FF-8046-01A-11D-2210-10	2849405	50901921	51629471	183	3247										
RFX7	64864	hgsc.bcm.edu	37	chr15	56387864	56387864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cttaacactgccttgtttctGcccttctatggtagctgctg	8	12	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:56387864G>A	ENST00000559447.2	-	9	2042	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q688*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.Q688*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q591*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	591					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTGTTTCTGCCCTTCTATG	0.458																																					p.Q688X		Atlas-SNP	.											.	RFX7	170	.	0			c.C2062T						PASS	.						119	110	113					15																	56387864		1903	4122	6025	SO:0001587	stop_gained	64864	exon9			GTTTCTGCCCTTC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1771C>T	15.37:g.56387864G>A	ENSP00000453281:p.Gln591*	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	319	127	0.398119	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.487851	0.96323	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.57	5.57	0.84162	.	0.272984	0.27134	N	0.020761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.2321	18.5333	0.91000	0.0:0.0:1.0:0.0	.	.	.	.	X	591;688;688	.	ENSP00000313299:Q688X	Q	-	1	0	RFX7	54175156	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.113000	0.57851	2.600000	0.87896	0.655000	0.94253	CAG	.	.	none		0.458	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		A	56387864	G	A	56387864	4	1	13	1	0	0	0	0	0	1	0	0	13268	1328	46	2	2324	2	RFX7	15	56387864	Nonsense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	5485943	56387864	46143528	184	3248										
LBXCOR1	390598	hgsc.bcm.edu	37	chr15	68118796	68118796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgtgccaagtgcatcaagtgCggctactgcagcatgtactt	11	11	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:68118796C>T	ENST00000380035.2	+	2	688	c.630C>T	c.(628-630)tgC>tgT	p.C210C	SKOR1_ENST00000341418.5_Silent_p.C396C|SKOR1_ENST00000389002.1_Silent_p.C201C|SKOR1_ENST00000554240.1_Silent_p.C171C|SKOR1_ENST00000554054.1_Silent_p.C182C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	210					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.C201C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCATCAAGTGCGGCTACTGCA	0.582																																					p.C396C		Atlas-SNP	.											SKOR1_ENST00000380035,NS,carcinoma,0,3	SKOR1	144	3	1	Substitution - coding silent(1)	large_intestine(1)	c.C1188T						scavenged	.						108	94	99					15																	68118796		2200	4298	6498	SO:0001819	synonymous_variant	390598	exon5			CAAGTGCGGCTAC		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.630C>T	15.37:g.68118796C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	142	2	0.0140845	NM_001258024	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																				.	.	none		0.582	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68118796	C	T	68118796	2	4	13	1	0	0	0	0	0	0	0	1	8655	776	27	1		1	LBXCOR1	15	68118796	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11730932	68118796	34412596	185	3249										
CLK3	1198	hgsc.bcm.edu	37	chr15	74912467	74912467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tatggaccttcacgttctcgTcatcgtcggcgatcgcggga	12	12	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:74912467T>C	ENST00000395066.3	+	3	1175	c.714T>C	c.(712-714)cgT>cgC	p.R238R	CLK3_ENST00000345005.4_Silent_p.R90R|CLK3_ENST00000348245.3_Silent_p.R90R|CLK3_ENST00000352989.5_Silent_p.R90R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	238	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACGTTCTCGTCATCGTCGGC	0.627																																					p.R238R	Ovarian(133;694 1754 28950 29027 31859)	Atlas-SNP	.											CLK3_ENST00000454830,NS,carcinoma,+1,4	CLK3	78	4	0			c.T714C						scavenged	.						198	190	193					15																	74912467		2197	4296	6493	SO:0001819	synonymous_variant	1198	exon3			TTCTCGTCATCGT	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.714T>C	15.37:g.74912467T>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	196	4	0.0204082	NM_001130028	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	CCDS45304.1																																																																																			.	.	none		0.627	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			C	74912467	T	C	74912467	2	2	13	1	0	0	0	0	0	0	0	1	3538	1654	58	2		2	CLK3	15	74912467	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	6793671	74912467	27618925	186	3250										
CSPG4	1464	hgsc.bcm.edu	37	chr15	75980270	75980270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agcaaagcccgagtcagcatCgctgaaggccacgtcgtctg	12	13	2	1	rs552897521		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:75980270C>T	ENST00000308508.5	-	3	3228	c.3136G>A	c.(3136-3138)Gat>Aat	p.D1046N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1046	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGTCAGCATCGCTGAAGGCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		19833	0.001		0.0	False		,,,				2504	0.0				p.D1046N		Atlas-SNP	.											.	CSPG4	175	.	0			c.G3136A						PASS	.																																			SO:0001583	missense	1464	exon3			CAGCATCGCTGAA	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3136G>A	15.37:g.75980270C>T	ENSP00000312506:p.Asp1046Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	203	101	0.497537	NM_001897	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.692443	0.88735	.	.	ENSG00000173546	ENST00000308508	T	0.51071	0.72	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000002	T	0.69975	0.3171	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73839	-0.3856	10	0.56958	D	0.05	.	17.0533	0.86525	0.0:1.0:0.0:0.0	.	1046	Q6UVK1	CSPG4_HUMAN	N	1046	ENSP00000312506:D1046N	ENSP00000312506:D1046N	D	-	1	0	CSPG4	73767325	1.000000	0.71417	0.708000	0.30435	0.809000	0.45718	7.817000	0.86213	2.253000	0.74438	0.555000	0.69702	GAT	.	.	none		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980270	C	T	75980270	3	4	13	1	0	0	0	0	1	0	0	0	3960	884	31	1	3864	1	CSPG4	15	75980270	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1067803	75980270	26551122	187	3251										
RASGRF1	5923	hgsc.bcm.edu	37	chr15	79339155	79339155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cttggagctggcggccatccGcagcgggcgcaggaaattgt	16	11	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:79339155G>A	ENST00000419573.3	-	5	1085	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R271W	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	271	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGGCCATCCGCAGCGGGCGC	0.587																																					p.R271W		Atlas-SNP	.											RASGRF1,NS,carcinoma,+2,1	RASGRF1	168	1	0			c.C811T						scavenged	.						143	117	126					15																	79339155		2196	4293	6489	SO:0001583	missense	5923	exon5			CCATCCGCAGCGG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.811C>T	15.37:g.79339155G>A	ENSP00000405963:p.Arg271Trp	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	192	3	0.015625	NM_001145648	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829688	0.71258	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.66280	-0.2	4.03	3.03	0.35002	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	T	0.72875	0.3515	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75020	0.985;0.979;0.954;0.944	T	0.75534	-0.3284	10	0.87932	D	0	.	10.5563	0.45118	0.0:0.0:0.7946:0.2054	.	271;271;271;271	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	W	271	ENSP00000405963:R271W	ENSP00000378224:R271W	R	-	1	2	RASGRF1	77126210	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.512000	0.53407	2.072000	0.62099	0.655000	0.94253	CGG	.	.	none		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79339155	G	A	79339155	3	1	13	1	0	0	0	0	1	0	0	0	13072	1086	38	1	3106	1	RASGRF1	15	79339155	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	3358885	79339155	23192237	188	3252										
SV2B	9899	hgsc.bcm.edu	37	chr15	91835648	91835648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tatgcaaatttggcgccatcCtgggaaacaccatctttgct	8	11	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:91835648C>T	ENST00000394232.1	+	13	2388	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SV2B_ENST00000330276.4_Silent_p.L640L|SV2B_ENST00000545111.2_Silent_p.L489L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	640					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGCGCCATCCTGGGAAACAC	0.468																																					p.L640L		Atlas-SNP	.											SV2B,colon,carcinoma,-1,1	SV2B	98	1	0			c.C1918T						scavenged	.						150	138	142					15																	91835648		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon14			GCCATCCTGGGAA	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1918C>T	15.37:g.91835648C>T		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	247	3	0.0121457	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			.	.	none		0.468	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91835648	C	T	91835648	2	4	13	1	0	0	0	0	0	0	0	1	15415	680	24	2		2	SV2B	15	91835648	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	12496493	91835648	10695744	189	3253										
ARRDC4	91947	hgsc.bcm.edu	37	chr15	98512603	98512603	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	attatcagagtggactattcCttagctgtaagcaaagctct	8	8	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr15:98512603C>G	ENST00000268042.6	+	5	1040	c.876C>G	c.(874-876)tcC>tcG	p.S292S	ARRDC4_ENST00000538249.1_Silent_p.S205S	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	292					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGACTATTCCTTAGCTGTAA	0.398																																					p.S292S		Atlas-SNP	.											.	ARRDC4	30	.	0			c.C876G						PASS	.						86	78	81					15																	98512603		2197	4298	6495	SO:0001819	synonymous_variant	91947	exon5			CTATTCCTTAGCT	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.876C>G	15.37:g.98512603C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	95	36	0.378947	NM_183376	Q6NSI9	Silent	SNP	ENST00000268042.6	37	CCDS10377.1																																																																																			.	.	none		0.398	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		G	98512603	C	G	98512603	2	3	13	1	0	0	0	0	0	0	0	1	985	668	24	4		4	ARRDC4	15	98512603	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	6676955	98512603	4018789	190	3254										
TBL3	10607	hgsc.bcm.edu	37	chr16	2025604	2025604	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agccgccgggccctgggcagGagctgacccactgcaccctg	14	17	0	1	rs8052713	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:2025604G>C	ENST00000568546.1	+	10	1008	c.880G>C	c.(880-882)Gag>Cag	p.E294Q		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	294			E -> Q (in dbSNP:rs8052713).		G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCCTGGGCAGGAGCTGACCCA	0.701													G|||	573	0.114417	0.0038	0.1873	5008	,	,		17024	0.0397		0.1312	False		,,,				2504	0.272				p.E294Q	Melanoma(118;616 1651 35077 38081 48633)	Atlas-SNP	.											TBL3,NS,carcinoma,0,1	TBL3	54	1	0			c.G880C						scavenged	.	G	GLN/GLU	115,4271		4,107,2082	20	22	21		880	5.2	0.8	16	dbSNP_116	21	1032,7554		57,918,3318	no	missense	TBL3	NM_006453.2	29	61,1025,5400	CC,CG,GG		12.0196,2.622,8.8421	benign	294/809	2025604	1147,11825	2193	4293	6486	SO:0001583	missense	10607	exon10			GGGCAGGAGCTGA	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.880G>C	16.37:g.2025604G>C	ENSP00000454836:p.Glu294Gln	Somatic	16	3	0.1875		WXS	Illumina HiSeq	Phase_I	7	3	0.428571	NM_006453	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	169	0.07738095238095238	3	0.006097560975609756	50	0.13812154696132597	21	0.03671328671328671	95	0.12532981530343007	G	10.55	1.382302	0.24944	0.02622	0.120196	ENSG00000183751	ENST00000332704	.	.	.	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.607646	0.14343	N	0.325608	T	0.00356	0.0011	L	0.47716	1.5	0.27465	P	0.9530353	B;P	0.37176	0.008;0.586	B;B	0.27608	0.005;0.081	T	0.22243	-1.0222	8	0.10377	T	0.69	-13.4403	17.6351	0.88120	0.0:0.0:1.0:0.0	rs8052713	56;294	A0JLS5;Q12788	.;TBL3_HUMAN	Q	294	.	ENSP00000331815:E294Q	E	+	1	0	TBL3	1965605	1.000000	0.71417	0.809000	0.32408	0.510000	0.34073	4.016000	0.57159	2.415000	0.81967	0.655000	0.94253	GAG	G|0.921;C|0.079	0.079	strong		0.701	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		C	2025604	G	C	2025604	3	2	13	1	0	0	0	0	1	0	0	0	15640	1175	41	4	918	4	TBL3	16	2025604	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10		2025604	88329149	191	3255										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2816548	2816548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagtaactcgaagaaggtccCgctctcgaacctcaccagtg	9	14	2	1	rs555127784		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:2816548C>T	ENST00000301740.8	+	11	6568	c.6019C>T	c.(6019-6021)Cgc>Tgc	p.R2007C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2007	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGAAGGTCCCGCTCTCGAAC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17179	0.0		0.0	False		,,,				2504	0.0				p.R2007C		Atlas-SNP	.											SRRM2,colon,carcinoma,-1,1	SRRM2	263	1	0			c.C6019T						PASS	.						73	78	76					16																	2816548		2198	4300	6498	SO:0001583	missense	23524	exon11			AGGTCCCGCTCTC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6019C>T	16.37:g.2816548C>T	ENSP00000301740:p.Arg2007Cys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	114	5	0.0438596	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179393	0.21787	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.27890	1.64	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000020	T	0.33818	0.0876	N	0.08118	0	0.45791	D	0.998673	D	0.89917	1.0	D	0.80764	0.994	T	0.35822	-0.9773	10	0.72032	D	0.01	-6.8635	11.8353	0.52321	0.1749:0.8251:0.0:0.0	.	2007	Q9UQ35	SRRM2_HUMAN	C	2007;2007;1259	ENSP00000301740:R2007C	ENSP00000301740:R2007C	R	+	1	0	SRRM2	2756549	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.556000	0.45862	2.572000	0.86782	0.650000	0.86243	CGC	.	.	none		0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2816548	C	T	2816548	3	4	13	1	0	0	0	0	1	0	0	0	15168	652	23	1	6057	1	SRRM2	16	2816548	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	790944	2816548	87538205	192	3256										
CCDC64B	146439	hgsc.bcm.edu	37	chr16	3078165	3078165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgggcccggggcccaggcgcAgcgagaagcggggcgcggca	21	14	0	1	rs12448103	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:3078165A>G	ENST00000572449.1	-	10	1531	c.1469T>C	c.(1468-1470)cTg>cCg	p.L490P	CCDC64B_ENST00000573514.1_Missense_Mutation_p.L283P|CCDC64B_ENST00000389347.4_Missense_Mutation_p.L490P			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	490										breast(1)|endometrium(2)|large_intestine(1)	4						GCCCAGGCGCAGCGAGAAGCG	0.716													A|||	909	0.18151	0.0492	0.2925	5008	,	,		10148	0.128		0.2356	False		,,,				2504	0.2812				p.L490P		Atlas-SNP	.											CCDC64B,NS,carcinoma,0,1	CCDC64B	19	1	0			c.T1469C						scavenged	.	A	PRO/LEU	205,3283		5,195,1544	4	5	5		1469	5.2	0.8	16	dbSNP_120	5	1331,6363		97,1137,2613	yes	missense	CCDC64B	NM_001103175.1	98	102,1332,4157	GG,GA,AA		17.2992,5.8773,13.7364	probably-damaging	490/509	3078165	1536,9646	1744	3847	5591	SO:0001583	missense	146439	exon9			AGGCGCAGCGAGA	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1469T>C	16.37:g.3078165A>G	ENSP00000459043:p.Leu490Pro	Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_001103175	Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	CCDS45393.1	382	0.1749084249084249	26	0.052845528455284556	112	0.30939226519337015	64	0.11188811188811189	180	0.23746701846965698	a	17.73	3.462111	0.63513	0.058773	0.172992	ENSG00000162069	ENST00000389347	T	0.36157	1.27	5.15	5.15	0.70609	.	0.119688	0.34879	N	0.003617	T	0.00012	0.0000	M	0.68952	2.095	0.23473	P	0.99760263	D	0.89917	1.0	D	0.91635	0.999	T	0.26018	-1.0115	9	0.30854	T	0.27	-7.2384	11.3817	0.49761	1.0:0.0:0.0:0.0	rs12448103	490	A1A5D9	BICR2_HUMAN	P	490	ENSP00000373998:L490P	ENSP00000373998:L490P	L	-	2	0	CCDC64B	3018166	0.249000	0.23941	0.820000	0.32676	0.129000	0.20672	0.546000	0.23284	1.957000	0.56846	0.454000	0.30748	CTG	A|0.823;G|0.177	0.177	strong		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			G	3078165	A	G	3078165	3	3	13	1	0	0	0	0	1	0	0	0	2836	188	7	3	61	3	CCDC64B	16	3078165	Missense_Mutation	SNP	A	TCGA-FF-8046-01A-11D-2210-10	261617	3078165	87276588	193	3257										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3790471	3790471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	actcggacaaaaacctccccGgcttcagggtgattctggcg	11	13	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:3790471G>A	ENST00000262367.5	-	24	4871	c.4062C>T	c.(4060-4062)gcC>gcT	p.A1354A	CREBBP_ENST00000382070.3_Silent_p.A1316A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1354	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAACCTCCCCGGCTTCAGGGT	0.562			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.A1354A		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	CREBBP,NS,carcinoma,-1,1	CREBBP	546	1	0			c.C4062T						scavenged	.						71	71	71					16																	3790471		2197	4300	6497	SO:0001819	synonymous_variant	1387	exon24			CTCCCCGGCTTCA	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4062C>T	16.37:g.3790471G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	143	5	0.034965	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																			.	.	none		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3790471	G	A	3790471	2	1	13	1	0	0	0	0	0	0	0	1	3861	1103	39	1		1	CREBBP	16	3790471	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	712306	3790471	86564282	194	3258										
KIAA0430	9665	hgsc.bcm.edu	37	chr16	15719020	15719020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaccagtttttgactccatgCggcacagctccttcaaagac	8	13	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:15719020C>T	ENST00000396368.3	-	9	2170	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	KIAA0430_ENST00000602337.1_Missense_Mutation_p.R652H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R654H|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R512H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R652H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	655					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R655H(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGACTCCATGCGGCACAGCTC	0.463																																					p.R655H		Atlas-SNP	.											KIAA0430,caecum,carcinoma,0,1	KIAA0430	154	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1964A						scavenged	.						53	54	53					16																	15719020		2002	4182	6184	SO:0001583	missense	9665	exon9			TCCATGCGGCACA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1964G>A	16.37:g.15719020C>T	ENSP00000379654:p.Arg655His	Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	124	4	0.0322581	NM_014647	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026658	0.54683	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.87	2.89	0.33648	.	0.385135	0.29822	N	0.011113	T	0.55577	0.1929	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.20164	0.018;0.042;0.042;0.005	B;B;B;B	0.15870	0.009;0.014;0.014;0.003	T	0.53287	-0.8460	9	0.72032	D	0.01	.	9.5646	0.39391	0.0:0.7846:0.0:0.2154	.	653;652;651;654	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	H	655;512;654;652;654	.	ENSP00000315718:R654H	R	-	2	0	KIAA0430	15626521	0.058000	0.20735	0.549000	0.28204	0.993000	0.82548	0.209000	0.17435	0.401000	0.25424	0.591000	0.81541	CGC	.	.	none		0.463	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		T	15719020	C	T	15719020	3	4	13	1	0	0	0	0	1	0	0	0	8177	768	27	1	3343	1	KIAA0430	16	15719020	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11928549	15719020	74635733	195	3259										
GPR139	124274	hgsc.bcm.edu	37	chr16	20043683	20043683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aacacttacaatgactttccGggtgcgggctgggtatgaga	13	8	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:20043683G>A	ENST00000570682.1	-	2	736	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	146					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGACTTTCCGGGTGCGGGCT	0.512																																					p.R146W		Atlas-SNP	.											GPR139,lower_third,carcinoma,+1,1	GPR139	75	1	0			c.C436T						scavenged	.						176	136	149					16																	20043683		2203	4300	6503	SO:0001583	missense	124274	exon2			CTTTCCGGGTGCG	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.436C>T	16.37:g.20043683G>A	ENSP00000458791:p.Arg146Trp	Somatic	236	2	0.00847458		WXS	Illumina HiSeq	Phase_I	240	4	0.0166667	NM_001002911	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141162	0.56936	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.51914	1.62	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	T	0.70342	-0.4898	9	0.56958	D	0.05	-35.7826	13.8024	0.63208	0.0:0.0:0.4434:0.5565	.	146	Q6DWJ6	GP139_HUMAN	W	146	.	ENSP00000370779:R146W	R	-	1	2	GPR139	19951184	0.998000	0.40836	1.000000	0.80357	0.858000	0.48976	2.360000	0.44151	0.721000	0.32231	-0.274000	0.10170	CGG	.	.	none		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		A	20043683	G	A	20043683	3	1	13	1	0	0	0	0	1	0	0	0	6648	1115	39	1	629	1	GPR139	16	20043683	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	4324663	20043683	70311070	196	3260										
ACSM1	116285	hgsc.bcm.edu	37	chr16	20681297	20681297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	catcagatgtcttcaggctcCgtaatttcctactaactcca	5	13	3	1	rs138822345		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:20681297C>A	ENST00000307493.4	-	5	831	c.764G>T	c.(763-765)cGg>cTg	p.R255L	ACSM1_ENST00000520010.1_Missense_Mutation_p.R255L|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	255					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCAGGCTCCGTAATTTCCT	0.512																																					p.R255L		Atlas-SNP	.											ACSM1,NS,malignant_melanoma,0,1	ACSM1	118	1	0			c.G764T						scavenged	.						118	106	110					16																	20681297		2201	4300	6501	SO:0001583	missense	116285	exon5			AGGCTCCGTAATT	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.764G>T	16.37:g.20681297C>A	ENSP00000301956:p.Arg255Leu	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	239	3	0.0125523	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.685884	0.00101	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.40225	1.04;1.04	5.05	2.69	0.31865	AMP-dependent synthetase/ligase (1);	0.834947	0.09773	N	0.757743	T	0.10465	0.0256	N	0.00465	-1.465	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32534	-0.9903	10	0.02654	T	1	.	5.7897	0.18353	0.4529:0.378:0.0:0.1691	.	255	Q08AH1	ACSM1_HUMAN	L	255	ENSP00000301956:R255L;ENSP00000428047:R255L	ENSP00000301956:R255L	R	-	2	0	ACSM1	20588798	0.003000	0.15002	0.006000	0.13384	0.003000	0.03518	1.732000	0.38146	0.308000	0.22923	-0.426000	0.05927	CGG	C|1.000;T|0.000	.	alt		0.512	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		A	20681297	C	A	20681297	3	1	13	1	0	0	0	0	1	0	0	0	182	652	23	4	1005	4	ACSM1	16	20681297	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	637614	20681297	69673456	197	3261										
ZNF768	79724	hgsc.bcm.edu	37	chr16	30537049	30537049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agattcatagccagggctccGgggttcatacccggggctcc	13	13	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:30537049G>A	ENST00000380412.5	-	2	587	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ZNF768_ENST00000562803.1_Missense_Mutation_p.R107W	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CCAGGGCTCCGGGGTTCATAC	0.507																																					p.R138W		Atlas-SNP	.											ZNF768,colon,carcinoma,0,1	ZNF768	28	1	0			c.C412T						scavenged	.						52	58	56					16																	30537049		2197	4299	6496	SO:0001583	missense	79724	exon2			GGCTCCGGGGTTC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.412C>T	16.37:g.30537049G>A	ENSP00000369777:p.Arg138Trp	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	213	4	0.0187793	NM_024671	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	6.397	0.441291	0.12164	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.16	-5.08	0.02929	.	2.573600	0.01887	N	0.038306	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	P	0.48640	0.913	B	0.40329	0.326	T	0.42882	-0.9425	10	0.66056	D	0.02	2.4763	11.6417	0.51237	0.0:0.1858:0.1363:0.6779	.	138	Q9H5H4	ZN768_HUMAN	W	138;107	ENSP00000369777:R138W	ENSP00000369777:R138W	R	-	1	2	ZNF768	30444550	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.601000	0.02081	-0.883000	0.03982	-0.397000	0.06425	CGG	.	.	none		0.507	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		A	30537049	G	A	30537049	3	1	13	1	0	0	0	0	1	0	0	0	18138	1115	39	1	1214	1	ZNF768	16	30537049	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	9855752	30537049	59817704	198	3262										
FHOD1	29109	hgsc.bcm.edu	37	chr16	67263851	67263851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cttctggggatgcagtggagGgccccactgtgggcatgatt	16	9	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:67263851G>A	ENST00000258201.4	-	21	3504	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L	LRRC29_ENST00000341546.3_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000462169.1_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1086	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCAGTGGAGGGCCCCACTGT	0.572																																					p.P1086L		Atlas-SNP	.											FHOD1,NS,carcinoma,+1,1	FHOD1	86	1	0			c.C3257T						scavenged	.						65	69	68					16																	67263851		2198	4300	6498	SO:0001583	missense	29109	exon21			GTGGAGGGCCCCA	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3257C>T	16.37:g.67263851G>A	ENSP00000258201:p.Pro1086Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	122	2	0.0163934	NM_013241	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759789	0.15846	.	.	ENSG00000135723	ENST00000258201	T	0.36157	1.27	5.46	5.46	0.80206	.	1.121610	0.06720	N	0.774745	T	0.36936	0.0985	L	0.52573	1.65	0.26196	N	0.979511	B	0.14805	0.011	B	0.15870	0.014	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.1273	0.42658	0.0878:0.0:0.9122:0.0	.	1086	Q9Y613	FHOD1_HUMAN	L	1086	ENSP00000258201:P1086L	ENSP00000258201:P1086L	P	-	2	0	FHOD1	65821352	0.849000	0.29639	0.467000	0.27180	0.024000	0.10985	3.198000	0.51035	2.840000	0.97914	0.655000	0.94253	CCC	.	.	none		0.572	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			A	67263851	G	A	67263851	3	1	13	1	0	0	0	0	1	0	0	0	5882	1232	43	2	245	2	FHOD1	16	67263851	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	36726802	67263851	23090902	199	3263										
SNTB2	6645	hgsc.bcm.edu	37	chr16	69294165	69294165	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgcctggctggcagaacaggTaggctgggaggcagggcaga	19	8	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:69294165T>C	ENST00000336278.4	+	3	1043		c.e3+2		SNTB2_ENST00000528525.1_Splice_Site	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)							cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GCAGAACAGGTAGGCTGGGAG	0.517																																					.	NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	Atlas-SNP	.											SNTB2,NS,carcinoma,0,1	SNTB2	22	1	1	Unknown(1)	kidney(1)	c.1005+2T>C						scavenged	.						91	73	79					16																	69294165		2198	4300	6498	SO:0001630	splice_region_variant	6645	exon3			AACAGGTAGGCTG	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1005+2T>C	16.37:g.69294165T>C		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_006750	Q9BY09	Splice_Site	SNP	ENST00000336278.4	37	CCDS10873.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504083	0.85176	.	.	ENSG00000168807	ENST00000336278	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8806	0.70531	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTB2	67851666	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.177000	0.77650	2.043000	0.60533	0.533000	0.62120	.	.	.	none		0.517	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1		Intron	C	69294165	T	C	69294165	5	2	13	1	0	0	0	0	0	0	1	0	14873	1652	57	2	1017	2	SNTB2	16	69294165	Splice_Site	SNP	T	TCGA-FF-8046-01A-11D-2210-10	2030314	69294165	21060588	200	3264										
CHST4	10164	hgsc.bcm.edu	37	chr16	71570645	71570645	+	Frame_Shift_Del	DEL	T	T	-													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ccagatggccatcttggctcTattcttccacatgtacagcc							TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:71570645delT	ENST00000338482.5	+	3	408	c.65delT	c.(64-66)ctafs	p.L22fs	CHST4_ENST00000572450.1_Frame_Shift_Del_p.L22fs|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Frame_Shift_Del_p.L22fs			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	22					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATCTTGGCTCTATTCTTCCAC	0.502																																					p.L22fs		Pindel,Atlas-Indel	.											.	CHST4	47	.	0			c.64delC						PASS	.						111	108	109					16																	71570645		2198	4300	6498	SO:0001589	frameshift_variant	10164	exon2			.	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.65delT	16.37:g.71570645delT	ENSP00000341206:p.Leu22fs	Somatic	84	.	.		WXS	Illumina HiSeq	Phase_I	83	17	0.205	NM_001166395	Q8IV46|Q9Y5R3	Frame_Shift_Del	DEL	ENST00000338482.5	37	CCDS10902.1																																																																																			.	.	none		0.502	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		-	71570645	T	-	71570645	7	5	13	1	0	1	0	1	0	0	0	0	3406	1522	53	0	67	0	CHST4	16	71570645	Frame_Shift_Del	DEL	T	TCGA-FF-8046-01A-11D-2210-10	2276480	71570645	18784108	201	3265										
BCMO1	53630	hgsc.bcm.edu	37	chr16	81303828	81303828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaccaagttttacacagacgCcatggtggtcttccatcacg	9	12	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr16:81303828C>T	ENST00000258168.2	+	7	1369	c.908C>T	c.(907-909)gCc>gTc	p.A303V	BCMO1_ENST00000425577.2_Missense_Mutation_p.A234V	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TACACAGACGCCATGGTGGTC	0.517																																					p.A303V		Atlas-SNP	.											BCMO1,colon,carcinoma,+1,1	BCMO1	53	1	0			c.C908T						scavenged	.						184	148	160					16																	81303828		2202	4300	6502	SO:0001583	missense	53630	exon7			CAGACGCCATGGT																												ENST00000258168.2:c.908C>T	16.37:g.81303828C>T	ENSP00000258168:p.Ala303Val	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_017429		Missense_Mutation	SNP	ENST00000258168.2	37	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876367	0.91664	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95447	-3.71;-3.71	5.62	5.62	0.85841	.	0.623507	0.17742	N	0.163534	D	0.97241	0.9098	M	0.69358	2.11	0.43936	D	0.996594	D;P	0.56968	0.978;0.909	P;P	0.62491	0.903;0.771	D	0.97476	1.0044	10	0.72032	D	0.01	-8.8846	19.7208	0.96143	0.0:1.0:0.0:0.0	.	234;303	E7EM88;Q9HAY6	.;BCDO1_HUMAN	V	303;234	ENSP00000258168:A303V;ENSP00000400586:A234V	ENSP00000258168:A303V	A	+	2	0	BCMO1	79861329	0.455000	0.25736	0.997000	0.53966	0.372000	0.29890	5.491000	0.66887	2.651000	0.90000	0.650000	0.86243	GCC	.	.	none		0.517	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			T	81303828	C	T	81303828	3	4	13	1	0	0	0	0	1	0	0	0	1384	739	26	2	934	2	BCMO1	16	81303828	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	9733183	81303828	9050925	202	3266										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3352179	3352179	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgaaaattgggcttaagtgtCtgtagtgcactgtttttgtc	11	5	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:3352179C>T	ENST00000573128.1	-	6	1077	c.594G>A	c.(592-594)caG>caA	p.Q198Q	SPATA22_ENST00000541913.1_Silent_p.Q182Q|SPATA22_ENST00000355380.4_Silent_p.Q155Q|SPATA22_ENST00000575375.1_Silent_p.Q198Q|SPATA22_ENST00000397168.3_Silent_p.Q198Q|SPATA22_ENST00000572969.1_Silent_p.Q198Q|SPATA22_ENST00000268981.5_Silent_p.Q198Q			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	198					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GCTTAAGTGTCTGTAGTGCAC	0.353																																					p.Q198Q		Atlas-SNP	.											SPATA22,NS,carcinoma,0,1	SPATA22	49	1	0			c.G594A						scavenged	.						134	131	132					17																	3352179		2203	4300	6503	SO:0001819	synonymous_variant	84690	exon6			AAGTGTCTGTAGT	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.594G>A	17.37:g.3352179C>T		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	348	4	0.0114943	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Silent	SNP	ENST00000573128.1	37	CCDS11027.1																																																																																			.	.	none		0.353	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		T	3352179	C	T	3352179	2	4	13	1	0	0	0	0	0	0	0	1	15007	912	32	2		2	SPATA22	17	3352179	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10		3352179	77843031	203	3267										
ZMYND15	84225	hgsc.bcm.edu	37	chr17	4645298	4645298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cccggccaggcttcacctttGcttcccttcgtgctcgaacc	8	18	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:4645298G>A	ENST00000433935.1	+	4	973	c.916G>A	c.(916-918)Gct>Act	p.A306T	ZMYND15_ENST00000592813.1_Missense_Mutation_p.A306T|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.A306T|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.A306T	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	306					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTTCACCTTTGCTTCCCTTCG	0.567																																					p.A306T		Atlas-SNP	.											.	ZMYND15	87	.	0			c.G916A						PASS	.						79	83	82					17																	4645298		2203	4300	6503	SO:0001583	missense	84225	exon4			ACCTTTGCTTCCC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.916G>A	17.37:g.4645298G>A	ENSP00000391742:p.Ala306Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	118	40	0.338983	NM_001136046	B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806938	0.70797	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.53206	0.67;0.63	5.15	5.15	0.70609	.	0.094778	0.45606	D	0.000355	T	0.53965	0.1829	L	0.29908	0.895	0.33804	D	0.627042	D;D	0.69078	0.997;0.997	D;D	0.73380	0.913;0.98	T	0.64322	-0.6435	10	0.56958	D	0.05	-19.1442	11.1144	0.48252	0.0:0.0:0.8159:0.1841	.	306;306	B4DXY5;Q9H091	.;ZMY15_HUMAN	T	306	ENSP00000391742:A306T;ENSP00000269289:A306T	ENSP00000269289:A306T	A	+	1	0	ZMYND15	4592047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.585000	0.46111	2.677000	0.91161	0.563000	0.77884	GCT	.	.	none		0.567	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		A	4645298	G	A	4645298	3	1	13	1	0	0	0	0	1	0	0	0	17705	1319	46	2	926	2	ZMYND15	17	4645298	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1293119	4645298	76549912	204	3268										
FAM64A	54478	hgsc.bcm.edu	37	chr17	6352690	6352690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttcagcatctccagaagctgTcccaagagctagatgaagcc	9	12	2	4			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:6352690T>C	ENST00000250056.8	+	4	732	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	FAM64A_ENST00000572595.2_Missense_Mutation_p.S248P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S217P|FAM64A_ENST00000572447.1_Missense_Mutation_p.S217P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S217P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S217P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	217					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CCAGAAGCTGTCCCAAGAGCT	0.537																																					p.S217P		Atlas-SNP	.											.	FAM64A	20	.	0			c.T649C						PASS	.						86	82	84					17																	6352690		2203	4300	6503	SO:0001583	missense	54478	exon4			AAGCTGTCCCAAG		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.649T>C	17.37:g.6352690T>C	ENSP00000250056:p.Ser217Pro	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	78	5	0.0641026	NM_019013	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.007184	0.75046	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	5.75	5.75	0.90469	.	0.076511	0.51477	D	0.000093	T	0.70343	0.3213	M	0.72118	2.19	0.41665	D	0.989202	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.73852	-0.3852	10	0.66056	D	0.02	-19.9763	12.4405	0.55621	0.0:0.0:0.0:1.0	.	217;217	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	217	ENSP00000250056:S217P	ENSP00000250056:S217P	S	+	1	0	FAM64A	6293414	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.868000	0.48436	2.196000	0.70406	0.460000	0.39030	TCC	.	.	none		0.537	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		C	6352690	T	C	6352690	3	2	13	1	0	0	0	0	1	0	0	0	5598	1667	58	2	659	2	FAM64A	17	6352690	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	1707392	6352690	74842520	205	3269										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386300	7386300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggaacctcagctgtgagaggGaagggaaggtggaggagtga	20	4	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:7386300G>A	ENST00000412468.2	+	2	1112	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)											CTGTGAGAGGGAAGGGAAGGT	0.557																																					p.E333K		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,-1,1	.	.	1	0			c.G997A						scavenged	.						60	59	59					17																	7386300		2203	4300	6503	SO:0001583	missense	643664	exon2			GAGAGGGAAGGGA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.997G>A	17.37:g.7386300G>A	ENSP00000396523:p.Glu333Lys	Somatic	93	6	0.0645161		WXS	Illumina HiSeq	Phase_I	111	6	0.0540541	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322479	0.01320	.	.	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.69	1.44	0.22558	.	.	.	.	.	T	0.14056	0.0340	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.37526	-0.9702	9	0.02654	T	1	-0.2286	4.7772	0.13185	0.2637:0.1728:0.5636:0.0	.	333	P0C7Q6	S35G6_HUMAN	K	333	ENSP00000396523:E333K	ENSP00000396523:E333K	E	+	1	0	SLC35G6	7327024	1.000000	0.71417	0.321000	0.25320	0.451000	0.32288	4.403000	0.59729	0.499000	0.27970	-0.225000	0.12378	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386300	G	A	7386300	3	1	13	1	0	0	0	0	1	0	0	0	561	1175	41	2	1003	2	AMAC1L3	17	7386300	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1033610	7386300	73808910	206	3270										
LGALS9B	284194	hgsc.bcm.edu	37	chr17	20354849	20354849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggggcagacttcgctcctcaGacccccaagagttgttgatc	11	13	1	4			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:20354849G>A	ENST00000423676.3	-	10	932	c.869C>T	c.(868-870)tCt>tTt	p.S290F	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S289F			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	290	Beta-galactoside binding 2. {ECO:0000250}.|Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TCGCTCCTCAGACCCCCAAGA	0.572																																					p.S289F		Atlas-SNP	.											LGALS9B,NS,carcinoma,0,1	LGALS9B	24	1	0			c.C866T						scavenged	.						8	14	12					17																	20354849		2117	4225	6342	SO:0001583	missense	284194	exon10			TCCTCAGACCCCC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"Lectins, galactoside-binding"	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.869C>T	17.37:g.20354849G>A	ENSP00000388841:p.Ser290Phe	Somatic	425	1	0.00235294		WXS	Illumina HiSeq	Phase_I	482	2	0.00414938	NM_001042685	A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37		.	.	.	.	.	.	.	.	.	.	G	11.46	1.645169	0.29246	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.927	0.19437	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.209440	0.05787	N	0.609606	T	0.66268	0.2772	M	0.81341	2.54	0.09310	N	0.999995	D;D	0.62365	0.991;0.988	D;P	0.64506	0.926;0.879	T	0.45731	-0.9241	9	0.59425	D	0.04	.	6.4868	0.22093	0.0:0.0:0.4877:0.5123	.	290;289	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	F	289;290	.	ENSP00000315564:S290F	S	-	2	0	LGALS9B	20295441	0.000000	0.05858	0.936000	0.37596	0.623000	0.37688	0.048000	0.14078	0.371000	0.24564	0.194000	0.17425	TCT	.	.	none		0.572	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		A	20354849	G	A	20354849	3	1	13	1	0	0	0	0	1	0	0	0	8749	942	33	2	209	2	LGALS9B	17	20354849	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	12968549	20354849	60840361	207	3271										
SPAG5	10615	hgsc.bcm.edu	37	chr17	26919654	26919654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agggatttggtggagactccTctaagagatgggacggagat	16	5	1	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:26919654T>C	ENST00000321765.5	-	3	940	c.608A>G	c.(607-609)gAg>gGg	p.E203G		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	203					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGAGACTCCTCTAAGAGATG	0.493																																					p.E203G		Atlas-SNP	.											.	SPAG5	92	.	0			c.A608G						PASS	.						103	102	103					17																	26919654		2203	4300	6503	SO:0001583	missense	10615	exon3			GACTCCTCTAAGA	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.608A>G	17.37:g.26919654T>C	ENSP00000323300:p.Glu203Gly	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	134	48	0.358209	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	1.807	-0.475729	0.04414	.	.	ENSG00000076382	ENST00000321765	T	0.43688	0.94	5.33	2.99	0.34606	.	0.841403	0.10417	N	0.677155	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.18335	-1.0340	10	0.87932	D	0	-0.7221	4.8055	0.13317	0.0:0.0969:0.1906:0.7125	.	203	Q96R06	SPAG5_HUMAN	G	203	ENSP00000323300:E203G	ENSP00000323300:E203G	E	-	2	0	SPAG5	23943781	0.008000	0.16893	0.003000	0.11579	0.058000	0.15608	1.333000	0.33816	0.857000	0.35407	0.533000	0.62120	GAG	.	.	none		0.493	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26919654	T	C	26919654	3	2	13	1	0	0	0	0	1	0	0	0	14981	1551	54	3	3061	3	SPAG5	17	26919654	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	6564805	26919654	54275556	208	3272										
TNS4	84951	hgsc.bcm.edu	37	chr17	38635982	38635982	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtgactttgaagtggaccacGgtgggcgtggggaggatgtc	19	6	0	2	rs150152835		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:38635982G>T	ENST00000254051.6	-	10	2012	c.1854C>A	c.(1852-1854)acC>acA	p.T618T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	618	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGTGGACCACGGTGGGCGTGG	0.612																																					p.T618T		Atlas-SNP	.											TNS4,NS,carcinoma,0,1	TNS4	72	1	0			c.C1854A						scavenged	.						129	95	107					17																	38635982		2203	4300	6503	SO:0001819	synonymous_variant	84951	exon10			GACCACGGTGGGC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1854C>A	17.37:g.38635982G>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	112	2	0.0178571	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	CCDS11368.1																																																																																			G|1.000;A|0.000	.	alt		0.612	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38635982	G	T	38635982	2	4	13	1	0	0	0	0	0	0	0	1	16342	1103	39	4		4	TNS4	17	38635982	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	11716328	38635982	42559228	209	3273										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240790	39240790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgccagcccacctgctgccGccccagctgctgccgcccct	9	23	0	0	rs11650261|rs553572799	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:39240790G>A	ENST00000391417.4	+	1	332	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	136	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						acctgctgccgccccagctgc	0.657													g|||	343	0.0684904	0.0272	0.1196	5008	,	,		10689	0.0685		0.1153	False		,,,				2504	0.0399				p.R111H		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,3	KRTAP4-7	49	3	2	Unknown(1)|Deletion - In frame(1)	NS(2)	c.G332A						scavenged	.						11	13	12					17																	39240790		682	1579	2261	SO:0001583	missense	100132476	exon1			GCTGCCGCCCCAG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.332G>A	17.37:g.39240790G>A	ENSP00000375236:p.Arg111His	Somatic	29	1	0.0344828		WXS	Illumina HiSeq	Phase_I	51	10	0.196078	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	148	0.06776556776556776	22	0.044715447154471545	32	0.08839779005524862	22	0.038461538461538464	72	0.09498680738786279	.	6.498	0.460116	0.12342	.	.	ENSG00000240871	ENST00000391417	T	0.00612	6.22	3.95	-0.91	0.10511	.	8.977930	0.00616	U	0.000420	T	0.00039	0.0001	.	.	.	0.09310	N	1	D	0.60575	0.988	P	0.46389	0.515	T	0.44050	-0.9353	9	0.48119	T	0.1	.	3.4362	0.07446	0.2202:0.0:0.299:0.4808	rs11650261	166	Q9BYR0	KRA47_HUMAN	H	111	ENSP00000375236:R111H	ENSP00000375236:R111H	R	+	2	0	KRTAP4-7	36494316	0.000000	0.05858	0.005000	0.12908	0.119000	0.20118	0.218000	0.17622	0.230000	0.21059	-0.391000	0.06502	CGC	G|0.932;A|0.068	0.068	strong		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240790	G	A	39240790	3	1	13	1	0	0	0	0	1	0	0	0	8555	1087	38	1	334	1	KRTAP4-7	17	39240790	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	604808	39240790	41954420	210	3274										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240804	39240804	+	Missense_Mutation	SNP	C	C	A													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gctgccgccccagctgctgcCgcccctgctgctgcctgcgt							TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:39240804C>A	ENST00000391417.4	+	1	346	c.346C>A	c.(346-348)Cgc>Agc	p.R116S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgccgcccctgctg	0.672																																					p.R116S		Atlas-SNP	.											KRTAP4-7,caecum,carcinoma,0,1	KRTAP4-7	49	1	0			c.C346A						scavenged	.						15	16	16					17																	39240804		692	1588	2280	SO:0001583	missense	100132476	exon1			TGCTGCCGCCCCT	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.346C>A	17.37:g.39240804C>A	ENSP00000375236:p.Arg116Ser	Somatic	30	4	0.133333		WXS	Illumina HiSeq	Phase_I	43	10	0.232558	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.524493	0.00959	.	.	ENSG00000240871	ENST00000391417	T	0.00596	6.32	3.15	-6.29	0.02013	.	0.163808	0.19966	U	0.102091	T	0.00241	0.0007	.	.	.	0.09310	N	0.999997	B	0.33748	0.423	B	0.29524	0.103	T	0.47661	-0.9100	9	0.11794	T	0.64	.	1.8893	0.03244	0.1228:0.1811:0.2435:0.4526	.	171	Q9BYR0	KRA47_HUMAN	S	116	ENSP00000375236:R116S	ENSP00000375236:R116S	R	+	1	0	KRTAP4-7	36494330	0.000000	0.05858	0.002000	0.10522	0.468000	0.32798	-3.208000	0.00557	-2.496000	0.00513	-0.734000	0.03567	CGC	.	.	none		0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240804	C	A	39240804	3	1	13	1	0	0	0	0	1	0	0	0	8555	652	23	4	348	4	KRTAP4-7	17	39240804	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	14	39240804	41954406	211	3275	58	2								
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240805	39240805	+	Missense_Mutation	SNP	G	G	T													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctgccgccccagctgctgccGcccctgctgctgcctgcgtc							TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:39240805G>T	ENST00000391417.4	+	1	347	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgccgcccctgctgc	0.672																																					p.R116L		Atlas-SNP	.											KRTAP4-7,caecum,carcinoma,+1,1	KRTAP4-7	49	1	0			c.G347T						scavenged	.						18	18	18					17																	39240805		692	1587	2279	SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.347G>T	17.37:g.39240805G>T	ENSP00000375236:p.Arg116Leu	Somatic	33	4	0.121212		WXS	Illumina HiSeq	Phase_I	44	7	0.159091	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	6.805	0.517638	0.13005	.	.	ENSG00000240871	ENST00000391417	T	0.00606	6.26	3.15	2.13	0.27403	.	0.163808	0.19966	U	0.102091	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.45804	-0.9236	9	0.28530	T	0.3	.	9.2621	0.37619	0.0:0.0:0.7821:0.2179	.	171	Q9BYR0	KRA47_HUMAN	L	116	ENSP00000375236:R116L	ENSP00000375236:R116L	R	+	2	0	KRTAP4-7	36494331	0.000000	0.05858	0.028000	0.17463	0.502000	0.33828	-0.081000	0.11321	0.603000	0.29913	0.289000	0.19496	CGC	.	.	none		0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240805	G	T	39240805	3	4	13	1	0	0	0	0	1	0	0	0	8555	1087	38	4	349	4	KRTAP4-7	17	39240805	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1	39240805	41954405	212	3276	58	2								
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254058	39254058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagcagctggagatgcagcaGctagggtggcagcaggtggg	19	8	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:39254058G>T	ENST00000333822.4	-	1	335	c.279C>A	c.(277-279)agC>agA	p.S93R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	93	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agatgcagcagcTAGGGTGGC	0.677																																					p.S93R		Atlas-SNP	.											KRTAP4-8,NS,carcinoma,0,2	KRTAP4-8	57	2	0			c.C279A						scavenged	.						8	11	10					17																	39254058		683	1581	2264	SO:0001583	missense	728224	exon1			GCAGCAGCTAGGG	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.279C>A	17.37:g.39254058G>T	ENSP00000328444:p.Ser93Arg	Somatic	74	8	0.108108		WXS	Illumina HiSeq	Phase_I	100	14	0.14	NM_031960	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921689	0.33908	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01629	4.72	2.84	0.649	0.17806	.	1.381260	0.05066	U	0.480753	T	0.03220	0.0094	M	0.69823	2.125	0.19575	N	0.999964	B	0.13145	0.007	B	0.14578	0.011	T	0.47249	-0.9132	10	0.36615	T	0.2	.	5.5258	0.16957	0.4095:0.0:0.5905:0.0	.	93	Q9BYQ9	KRA48_HUMAN	R	93;78	ENSP00000328444:S93R	ENSP00000414561:S78R	S	-	3	2	KRTAP4-8	36507584	0.001000	0.12720	0.112000	0.21494	0.752000	0.42762	-0.433000	0.06948	0.063000	0.16370	0.456000	0.33151	AGC	.	.	none		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		T	39254058	G	T	39254058	3	4	13	1	0	0	0	0	1	0	0	0	8556	962	34	4	282	4	KRTAP4-8	17	39254058	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	13253	39254058	41941152	213	3277										
OR4D1	26689	hgsc.bcm.edu	37	chr17	56232809	56232809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tctcctaccagggctgcatgGcccagatcttcttcttccac	7	16	4	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:56232809G>A	ENST00000268912.5	+	1	316	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	99					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGGCTGCATGGCCCAGATCTT	0.527																																					p.A99T		Atlas-SNP	.											OR4D1,NS,carcinoma,0,1	OR4D1	48	1	0			c.G295A						scavenged	.						113	117	115					17																	56232809		2179	4285	6464	SO:0001583	missense	26689	exon1			TGCATGGCCCAGA	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.295G>A	17.37:g.56232809G>A	ENSP00000365451:p.Ala99Thr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	94	2	0.0212766	NM_012374	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	3.469	-0.108395	0.06924	.	.	ENSG00000141194	ENST00000268912	T	0.03004	4.08	5.63	0.911	0.19343	GPCR, rhodopsin-like superfamily (1);	0.324668	0.26824	N	0.022302	T	0.01387	0.0045	N	0.03917	-0.325	0.25104	N	0.990768	B	0.14805	0.011	B	0.14578	0.011	T	0.49093	-0.8975	10	0.02654	T	1	-12.5484	8.2828	0.31910	0.4387:0.0:0.5613:0.0	.	99	Q15615	OR4D1_HUMAN	T	99	ENSP00000365451:A99T	ENSP00000365451:A99T	A	+	1	0	OR4D1	53587808	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	-0.638000	0.05452	0.337000	0.23665	0.543000	0.68304	GCC	.	.	none		0.527	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			A	56232809	G	A	56232809	3	1	13	1	0	0	0	0	1	0	0	0	11053	1203	42	2	297	2	OR4D1	17	56232809	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	16978751	56232809	24962401	214	3278										
ABCA8	10351	hgsc.bcm.edu	37	chr17	66918384	66918384	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tttttttttttttttttaccTttcaaggcttctattttatc	2	6	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:66918384T>C	ENST00000269080.2	-	11	1637	c.1500A>G	c.(1498-1500)aaA>aaG	p.K500K	ABCA8_ENST00000430352.2_Splice_Site_p.K500K|ABCA8_ENST00000586539.1_Splice_Site_p.K500K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	500	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					tttttttACCTTTCAAGGCTT	0.209																																					p.K500K		Atlas-SNP	.											.	ABCA8	213	.	0			c.A1500G						PASS	.						18	18	18					17																	66918384		2152	4259	6411	SO:0001630	splice_region_variant	10351	exon11			TTTACCTTTCAAG	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1501+1A>G	17.37:g.66918384T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	60	20	0.333333	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																			.	.	none		0.209	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Silent	C	66918384	T	C	66918384	5	2	13	1	0	0	0	0	0	0	1	0	38	1623	56	3	3357	3	ABCA8	17	66918384	Splice_Site	SNP	T	TCGA-FF-8046-01A-11D-2210-10	10685575	66918384	14276826	215	3279										
SDK2	54549	hgsc.bcm.edu	37	chr17	71431699	71431699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgctgatctgcaggcccccgTcgttgcgctgccggaagcgg	15	15	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:71431699T>C	ENST00000392650.3	-	9	1085	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G	SDK2_ENST00000388726.3_Missense_Mutation_p.D362G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	362	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CAGGCCCCCGTCGTTGCGCTG	0.652																																					p.D362G		Atlas-SNP	.											SDK2,NS,carcinoma,+1,1	SDK2	219	1	0			c.A1085G						scavenged	.						48	34	39					17																	71431699		2201	4297	6498	SO:0001583	missense	54549	exon9			CCCCCGTCGTTGC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1085A>G	17.37:g.71431699T>C	ENSP00000376421:p.Asp362Gly	Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	69	3	0.0434783	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071712	0.36566	.	.	ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.38722	1.12;1.12	4.84	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127433	0.53938	D	0.000057	T	0.20740	0.0499	N	0.04768	-0.165	0.33996	D	0.649673	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.012	T	0.25012	-1.0144	9	.	.	.	.	10.5573	0.45125	0.0:0.0:0.162:0.838	.	362;362	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	G	362	ENSP00000376421:D362G;ENSP00000373378:D362G	.	D	-	2	0	SDK2	68943294	0.990000	0.36364	0.843000	0.33291	0.816000	0.46133	3.419000	0.52728	1.798000	0.52647	0.459000	0.35465	GAC	.	.	none		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		C	71431699	T	C	71431699	3	2	13	1	0	0	0	0	1	0	0	0	13969	1667	58	2	5581	2	SDK2	17	71431699	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	4513315	71431699	9763511	216	3280										
GRB2	2885	hgsc.bcm.edu	37	chr17	73321980	73321980	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgcagcaggaaatacttactTgacagagagggagaagtccc	12	8	0	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:73321980T>C	ENST00000392562.1	-	4	1080	c.298A>G	c.(298-300)Aag>Gag	p.K100E	GRB2_ENST00000578961.1_Splice_Site_p.N100D|GRB2_ENST00000316804.5_Splice_Site_p.K100E|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Intron|GRB2_ENST00000392564.1_Splice_Site_p.K100E|GRB2_ENST00000392563.1_Intron			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AATACTTACTTGACAGAGAGG	0.522																																					p.K100E		Atlas-SNP	.											.	GRB2	33	.	0			c.A298G						PASS	.						87	91	90					17																	73321980		2203	4300	6503	SO:0001630	splice_region_variant	2885	exon4			CTTACTTGACAGA		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.299+1A>G	17.37:g.73321980T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	41	11	0.268293	NM_002086	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396281	0.83011	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564	D;D;D	0.89196	-2.48;-2.48;-2.48	5.28	5.28	0.74379	SH2 motif (5);	0.083338	0.85682	D	0.000000	D	0.93239	0.7846	M	0.93420	3.415	0.80722	D	1	B	0.22211	0.066	B	0.35770	0.21	D	0.92705	0.6178	10	0.72032	D	0.01	-25.8083	15.4247	0.75041	0.0:0.0:0.0:1.0	.	100	P62993	GRB2_HUMAN	E	100	ENSP00000339007:K100E;ENSP00000376345:K100E;ENSP00000376347:K100E	ENSP00000339007:K100E	K	-	1	0	GRB2	70833575	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.838000	0.86804	2.240000	0.73641	0.477000	0.44152	AAG	.	.	none		0.522	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1		Missense_Mutation	C	73321980	T	C	73321980	5	2	13	1	0	0	0	0	0	0	1	0	6758	1826	63	2	367	2	GRB2	17	73321980	Splice_Site	SNP	T	TCGA-FF-8046-01A-11D-2210-10	1890281	73321980	7873230	217	3281										
SRP68	6730	hgsc.bcm.edu	37	chr17	74063378	74063378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atcttgaagttgagtgttttTcgaagacgtctttgtctacg	10	6	3	3			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:74063378T>C	ENST00000307877.2	-	3	446	c.285A>G	c.(283-285)cgA>cgG	p.R95R	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAGTGTTTTTCGAAGACGTC	0.408																																					p.R95R		Atlas-SNP	.											SRP68,colon,carcinoma,-1,1	SRP68	61	1	0			c.A285G						scavenged	.						210	184	193					17																	74063378		2203	4300	6503	SO:0001819	synonymous_variant	6730	exon3			TGTTTTTCGAAGA	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.285A>G	17.37:g.74063378T>C		Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	284	5	0.0176056	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																			.	.	none		0.408	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		C	74063378	T	C	74063378	2	2	13	1	0	0	0	0	0	0	0	1	15155	1770	62	2		2	SRP68	17	74063378	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	741398	74063378	7131832	218	3282										
TIMP2	7077	hgsc.bcm.edu	37	chr17	76869909	76869909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agccactattacctttatctGcttgatctcatactggatcc	5	12	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr17:76869909G>T	ENST00000262768.7	-	2	521	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	TIMP2_ENST00000586057.1_5'UTR|TIMP2_ENST00000536189.2_5'UTR|TIMP2_ENST00000585421.1_5'UTR	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	75	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.Q75K(1)		central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ACCTTTATCTGCTTGATCTCA	0.542																																					p.Q75K		Atlas-SNP	.											TIMP2_ENST00000262768,NS,neuroblastoma,0,1	TIMP2	27	1	1	Substitution - Missense(1)	autonomic_ganglia(1)	c.C223A						scavenged	.						145	126	133					17																	76869909		2203	4300	6503	SO:0001583	missense	7077	exon2			TTATCTGCTTGAT		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.223C>A	17.37:g.76869909G>T	ENSP00000262768:p.Gln75Lys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_003255	Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	ENST00000262768.7	37	CCDS11758.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543458	0.86022	.	.	ENSG00000035862	ENST00000262768	D	0.93366	-3.21	4.92	4.92	0.64577	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97974	1.0345	10	0.72032	D	0.01	.	16.8888	0.86082	0.0:0.0:1.0:0.0	.	75	P16035	TIMP2_HUMAN	K	75	ENSP00000262768:Q75K	ENSP00000262768:Q75K	Q	-	1	0	TIMP2	74381504	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.351000	0.97073	2.270000	0.75569	0.561000	0.74099	CAG	.	.	none		0.542	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		T	76869909	G	T	76869909	3	4	13	1	0	0	0	0	1	0	0	0	15915	1328	46	4	455	4	TIMP2	17	76869909	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	2806531	76869909	4325301	219	3283										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542888	14542888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtcttcataaaggagttgtcAtggtctccagaagtgcccac	10	10	4	1	rs543140115	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr18:14542888A>G	ENST00000358970.5	-	1	257	c.258T>C	c.(256-258)caT>caC	p.H86H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTTGTCATGGTCTCCAG	0.587													.|||	10	0.00199681	0.0076	0.0	5008	,	,		28860	0.0		0.0	False		,,,				2504	0.0				p.H86H		Atlas-SNP	.											POTEC,NS,carcinoma,-2,1	POTEC	129	1	0			c.T258C						scavenged	.						51	57	55					18																	14542888		692	1591	2283	SO:0001819	synonymous_variant	388468	exon1			GTTGTCATGGTCT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.258T>C	18.37:g.14542888A>G		Somatic	344	3	0.00872093		WXS	Illumina HiSeq	Phase_I	384	12	0.03125	NM_001137671		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																			.	.	weak		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14542888	A	G	14542888	2	3	13	1	0	0	0	0	0	0	0	1	12262	214	8	2		2	POTEC	18	14542888	Silent	SNP	A	TCGA-FF-8046-01A-11D-2210-10		14542888	63534360	220	3284										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542916	14542916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagaagtgcccacgttgctcGtgccgctccccctgcagcag	11	17	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr18:14542916G>T	ENST00000358970.5	-	1	229	c.230C>A	c.(229-231)aCg>aAg	p.T77K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACGTTGCTCGTGCCGCTCCC	0.577																																					p.T77K		Atlas-SNP	.											POTEC,NS,carcinoma,+1,1	POTEC	129	1	0			c.C230A						scavenged	.						42	51	48					18																	14542916		692	1591	2283	SO:0001583	missense	388468	exon1			TTGCTCGTGCCGC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.230C>A	18.37:g.14542916G>T	ENSP00000351856:p.Thr77Lys	Somatic	329	4	0.0121581		WXS	Illumina HiSeq	Phase_I	385	13	0.0337662	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.707401	0.00096	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22743	1.94	0.429	-0.857	0.10693	.	.	.	.	.	T	0.03827	0.0108	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	0.02654	T	1	.	.	.	.	.	77	B2RU33	POTEC_HUMAN	K	77	ENSP00000351856:T77K	ENSP00000351856:T77K	T	-	2	0	POTEC	14532916	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.710000	0.01888	-2.489000	0.00518	-1.883000	0.00544	ACG	G|1.000;|0.000	.	weak		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14542916	G	T	14542916	3	4	13	1	0	0	0	0	1	0	0	0	12262	1145	40	4	1442	4	POTEC	18	14542916	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	28	14542916	63534332	221	3285										
ZBTB7C	201501	hgsc.bcm.edu	37	chr18	45566798	45566798	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttctcccttagcagagattcGatggagaagtcccggatcac	10	11	2	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr18:45566798G>A	ENST00000588982.1	-	3	1182	c.681C>T	c.(679-681)atC>atT	p.I227I	ZBTB7C_ENST00000590800.1_Silent_p.I227I|ZBTB7C_ENST00000535628.2_Silent_p.I227I|ZBTB7C_ENST00000586438.1_Silent_p.I227I|ZBTB7C_ENST00000332053.2_Silent_p.I227I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	227							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCAGAGATTCGATGGAGAAGT	0.587																																					p.I227I		Atlas-SNP	.											.	ZBTB7C	73	.	0			c.C681T						PASS	.						49	50	49					18																	45566798		2203	4300	6503	SO:0001819	synonymous_variant	201501	exon2			AGATTCGATGGAG	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.681C>T	18.37:g.45566798G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	171	63	0.368421	NM_001039360	O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																			.	.	none		0.587	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		A	45566798	G	A	45566798	2	1	13	1	0	0	0	0	0	0	0	1	17552	1048	37	1		1	ZBTB7C	18	45566798	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	31023882	45566798	32510450	222	3286										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47462675	47462675	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagcggacatagtgaggtgtCgtggcattcagggtctccat	14	9	2	1	rs180849030	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr18:47462675C>T	ENST00000285039.7	-	16	2249	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	650	Actin-binding. {ECO:0000255}.|Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.T650T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGAGGTGTCGTGGCATTCA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		20181	0.0		0.002	False		,,,				2504	0.0				p.T650T		Atlas-SNP	.											MYO5B,NS,carcinoma,0,1	MYO5B	178	1	1	Substitution - coding silent(1)	lung(1)	c.G1950A						PASS	.						97	100	99					18																	47462675		2083	4237	6320	SO:0001819	synonymous_variant	4645	exon16			AGGTGTCGTGGCA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1950G>A	18.37:g.47462675C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	159	56	0.352201	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																			C|0.999;T|0.001	0.001	strong		0.517	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47462675	C	T	47462675	2	4	13	1	0	0	0	0	0	0	0	1	10079	871	31	1		1	MYO5B	18	47462675	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1895877	47462675	30614573	223	3287										
CDH19	28513	hgsc.bcm.edu	37	chr18	64178881	64178881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aagtaaaaatggtgctcttcTatggattcatctctatccac	6	9	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr18:64178881T>C	ENST00000262150.2	-	10	1792	c.1500A>G	c.(1498-1500)atA>atG	p.I500M	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1778	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGTGCTCTTCTATGGATTCAT	0.333																																					p.I500M		Atlas-SNP	.											CDH19,NS,carcinoma,0,1	CDH19	141	1	0			c.A1500G						scavenged	.						93	92	92					18																	64178881		2203	4296	6499	SO:0001583	missense	28513	exon10			CTCTTCTATGGAT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1500A>G	18.37:g.64178881T>C	ENSP00000262150:p.Ile500Met	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	201	3	0.0149254	NM_021153	O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	T	7.537	0.659818	0.14645	.	.	ENSG00000071991	ENST00000262150	T	0.51071	0.72	5.03	-0.395	0.12431	Cadherin (4);Cadherin-like (1);	1.051630	0.07337	N	0.880064	T	0.27697	0.0681	N	0.19112	0.55	0.58432	D	0.999998	B	0.20261	0.043	B	0.24006	0.05	T	0.32268	-0.9913	10	0.36615	T	0.2	.	0.4226	0.00459	0.2514:0.2157:0.1296:0.4032	.	500	Q9H159	CAD19_HUMAN	M	500	ENSP00000262150:I500M	ENSP00000262150:I500M	I	-	3	3	CDH19	62329861	0.000000	0.05858	0.125000	0.21846	0.991000	0.79684	-0.609000	0.05635	-0.124000	0.11724	0.477000	0.44152	ATA	.	.	none		0.333	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		C	64178881	T	C	64178881	3	2	13	1	0	0	0	0	1	0	0	0	3104	1512	53	3	830	3	CDH19	18	64178881	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	16716206	64178881	13898367	224	3288										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1113655	1113655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcttcagccgctccacccgcTccaggaccccggggccatgc	11	20	1	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:1113655T>C	ENST00000361757.3	-	19	2363	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G	SBNO2_ENST00000587024.1_Missense_Mutation_p.E699G|SBNO2_ENST00000438103.2_Missense_Mutation_p.E652G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	709					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)		CTCCACCCGCTCCAGGACCCC	0.672																																					p.E709G		Atlas-SNP	.											SBNO2_ENST00000250872,NS,carcinoma,-1,2	SBNO2	112	2	0			c.A2126G						scavenged	.						10	13	12					19																	1113655		1842	4087	5929	SO:0001583	missense	22904	exon19			ACCCGCTCCAGGA	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		ENST00000361757.3:c.2126A>G	19.37:g.1113655T>C	ENSP00000354733:p.Glu709Gly	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	110	4	0.0363636	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433610	0.43224	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.3	4.3	0.51218	.	0.134734	0.47093	D	0.000251	T	0.59500	0.2198	M	0.77486	2.375	0.32992	D	0.525124	B;B	0.27498	0.113;0.18	B;B	0.29862	0.05;0.108	T	0.70655	-0.4812	9	0.49607	T	0.09	-35.9957	12.7593	0.57354	0.0:0.0:0.0:1.0	.	709;652	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	G	709;652;716	.	ENSP00000250872:E716G	E	-	2	0	SBNO2	1064655	0.932000	0.31603	0.915000	0.36163	0.319000	0.28217	3.171000	0.50824	1.805000	0.52779	0.459000	0.35465	GAG	.	.	none		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		C	1113655	T	C	1113655	3	2	13	1	0	0	0	0	1	0	0	0	13863	1551	54	3	2030	3	SBNO2	19	1113655	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10		1113655	58015328	225	3289										
FZR1	51343	hgsc.bcm.edu	37	chr19	3532490	3532490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tggcggccgtgaaggccatcGcctggtccccacatcagcac	12	16	1	1	rs371550562		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:3532490G>A	ENST00000395095.3	+	10	1084	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	FZR1_ENST00000313639.8_Missense_Mutation_p.A273T|FZR1_ENST00000441788.2_Missense_Mutation_p.A362T	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	362					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCCATCGCCTGGTCCCC	0.672																																					p.A362T		Atlas-SNP	.											.	FZR1	42	.	0			c.G1084A						PASS	.		THR/ALA,THR/ALA,THR/ALA	0,4398		0,0,2199	29	31	30		817,1084,1084	5.4	1	19		30	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	58,58,58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	273/405,362/497,362/494	3532490	1,12993	2199	4298	6497	SO:0001583	missense	51343	exon10			GCCATCGCCTGGT	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1084G>A	19.37:g.3532490G>A	ENSP00000378529:p.Ala362Thr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_001136198	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	g	36	5.780530	0.96929	0.0	1.16E-4	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.63744	-0.06;-0.06;-0.06	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047137	0.85682	D	0.000000	T	0.81749	0.4888	M	0.84773	2.715	0.80722	D	1	P;D;D	0.89917	0.889;0.999;1.0	P;D;D	0.91635	0.723;0.968;0.999	D	0.84022	0.0354	10	0.59425	D	0.04	-45.9139	17.7131	0.88327	0.0:0.0:1.0:0.0	.	362;273;362	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	T	362;362;273	ENSP00000410369:A362T;ENSP00000378529:A362T;ENSP00000321800:A273T	ENSP00000321800:A273T	A	+	1	0	FZR1	3483490	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.420000	0.97426	2.531000	0.85337	0.543000	0.68304	GCC	.	.	weak		0.672	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		A	3532490	G	A	3532490	3	1	13	1	0	0	0	0	1	0	0	0	6138	1087	38	1	1122	1	FZR1	19	3532490	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	2418835	3532490	55596493	226	3290										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511679	4511679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgtgagcccagtggacacagCatctttagtgccagtcagga	12	10	2	1	rs200355083		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:4511679C>T	ENST00000301286.3	-	3	2250	c.2251G>A	c.(2251-2253)Gct>Act	p.A751T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	751	27 X 33 AA approximate tandem repeat.					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						GTGGACACAGCATCTTTAGTG	0.582																																					p.A751T		Atlas-SNP	.											PLIN4,NS,carcinoma,+2,1	PLIN4	191	1	0			c.G2251A						scavenged	.						120	88	99					19																	4511679		2009	4153	6162	SO:0001583	missense	729359	exon3			ACACAGCATCTTT	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.2251G>A	19.37:g.4511679C>T	ENSP00000301286:p.Ala751Thr	Somatic	111	29	0.261261		WXS	Illumina HiSeq	Phase_I	124	25	0.201613	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.419065	0.01136	.	.	ENSG00000167676	ENST00000301286	T	0.05513	3.43	4.76	-1.11	0.09840	.	0.458324	0.18290	N	0.145745	T	0.02688	0.0081	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47355	-0.9124	10	0.10377	T	0.69	-1.9713	8.3707	0.32412	0.0:0.2324:0.1029:0.6646	.	751	Q96Q06	PLIN4_HUMAN	T	751	ENSP00000301286:A751T	ENSP00000301286:A751T	A	-	1	0	PLIN4	4462679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-0.765000	0.04645	-4.265000	0.00008	GCT	.	.	weak		0.582	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511679	C	T	4511679	3	4	13	1	0	0	0	0	1	0	0	0	12092	710	25	2	1838	2	PLIN4	19	4511679	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	979189	4511679	54617304	227	3291										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512945	4512945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tttggccacattcatggcacCagtcaccccactacagacgg	8	15	2	1	rs75031432	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:4512945C>T	ENST00000301286.3	-	3	984	c.985G>A	c.(985-987)Ggt>Agt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					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						TTCATGGCACCAGTCACCCCA	0.567													C|||	840	0.167732	0.4539	0.1037	5008	,	,		18994	0.0119		0.0934	False		,,,				2504	0.0634				p.G329S		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.G985A						scavenged	.						39	40	39					19																	4512945		1862	4105	5967	SO:0001583	missense	729359	exon3			TGGCACCAGTCAC	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.985G>A	19.37:g.4512945C>T	ENSP00000301286:p.Gly329Ser	Somatic	329	3	0.00911854		WXS	Illumina HiSeq	Phase_I	415	10	0.0240964	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776204	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.13901	2.55	4.53	1.21	0.21127	.	0.420915	0.19796	N	0.105865	T	0.13543	0.0328	L	0.46157	1.445	0.80722	P	0.0	D	0.54397	0.966	P	0.45794	0.493	T	0.19353	-1.0308	9	0.87932	D	0	-15.096	7.3812	0.26856	0.0:0.7112:0.0:0.2888	rs56366613	329	Q96Q06	PLIN4_HUMAN	S	329	ENSP00000301286:G329S	ENSP00000301286:G329S	G	-	1	0	PLIN4	4463945	0.091000	0.21658	0.003000	0.11579	0.001000	0.01503	0.810000	0.27183	0.906000	0.36621	0.407000	0.27541	GGT	C|0.826;T|0.174	0.174	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512945	C	T	4512945	3	4	13	1	0	0	0	0	1	0	0	0	12092	594	21	2	3104	2	PLIN4	19	4512945	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1266	4512945	54616038	228	3292										
INSR	3643	hgsc.bcm.edu	37	chr19	7117070	7117070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cgccacggtaggcactgttaGgaaggattggaccgaggcaa	15	9	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:7117070G>A	ENST00000302850.5	-	22	4288	c.4146C>T	c.(4144-4146)tcC>tcT	p.S1382S	INSR_ENST00000341500.5_Silent_p.S1370S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1382					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGCACTGTTAGGAAGGATTGG	0.542																																					p.S1382S		Atlas-SNP	.											INSR_ENST00000302850,right_upper_lobe,carcinoma,0,4	INSR	265	4	0			c.C4146T						scavenged	.						107	95	99					19																	7117070		2203	4300	6503	SO:0001819	synonymous_variant	3643	exon22			CTGTTAGGAAGGA	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4146C>T	19.37:g.7117070G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	57	2	0.0350877	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			.	.	none		0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7117070	G	A	7117070	2	1	13	1	0	0	0	0	0	0	0	1	7773	987	35	2		2	INSR	19	7117070	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	2604125	7117070	52011913	229	3293										
SYDE1	85360	hgsc.bcm.edu	37	chr19	15224520	15224520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gccccccgagcaaccgctacGccggcgactggagcgtttgc	13	17	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:15224520G>A	ENST00000342784.2	+	8	1985	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	SYDE1_ENST00000600252.1_Missense_Mutation_p.A309T|SYDE1_ENST00000600440.1_Missense_Mutation_p.A585T	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	652					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CAACCGCTACGCCGGCGACTG	0.692																																					p.A652T		Atlas-SNP	.											.	SYDE1	44	.	0			c.G1954A						PASS	.						43	53	50					19																	15224520		2203	4298	6501	SO:0001583	missense	85360	exon8			CGCTACGCCGGCG	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1954G>A	19.37:g.15224520G>A	ENSP00000341489:p.Ala652Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	34	8	0.235294	NM_033025	Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533392	0.96460	.	.	ENSG00000105137	ENST00000342784	T	0.55930	0.49	5.52	5.52	0.82312	.	0.134668	0.48767	D	0.000170	T	0.73916	0.3648	M	0.79123	2.44	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.76995	-0.2752	10	0.87932	D	0	.	16.928	0.86182	0.0:0.0:1.0:0.0	.	585;585;652	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	T	652	ENSP00000341489:A652T	ENSP00000341489:A652T	A	+	1	0	SYDE1	15085520	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	9.146000	0.94640	2.604000	0.88044	0.491000	0.48974	GCC	.	.	none		0.692	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		A	15224520	G	A	15224520	3	1	13	1	0	0	0	0	1	0	0	0	15432	1087	38	1	1984	1	SYDE1	19	15224520	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	8107450	15224520	43904463	230	3294										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22155696	22155696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gggtttctctccagtatgaaTtctcttatgttccataaggt	8	8	2	1	rs201427226		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:22155696T>C	ENST00000397126.4	-	4	2288	c.2140A>G	c.(2140-2142)Att>Gtt	p.I714V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGTATGAATTCTCTTATGT	0.363																																					p.I714V		Atlas-SNP	.											ZNF208_ENST00000428290,caecum,carcinoma,0,3	ZNF208	817	3	0			c.A2140G						scavenged	.						34	36	35					19																	22155696		1994	4182	6176	SO:0001583	missense	7757	exon4			TATGAATTCTCTT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2140A>G	19.37:g.22155696T>C	ENSP00000380315:p.Ile714Val	Somatic	21	1	0.047619		WXS	Illumina HiSeq	Phase_I	20	4	0.2	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273186	0.23221	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00986	5.47	1.9	-0.727	0.11166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	.	.	.	0.22001	N	0.999425	D	0.67145	0.996	D	0.63877	0.919	T	0.45673	-0.9245	8	0.36615	T	0.2	.	2.6811	0.05094	0.3914:0.1391:0.0:0.4695	.	614	O43345	ZN208_HUMAN	V	714;614	ENSP00000380315:I714V	ENSP00000380315:I714V	I	-	1	0	ZNF208	21947536	0.000000	0.05858	0.002000	0.10522	0.258000	0.26162	0.170000	0.16663	-0.730000	0.04869	0.232000	0.17820	ATT	.	.	weak		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155696	T	C	22155696	3	2	13	1	0	0	0	0	1	0	0	0	17763	1493	52	2	1706	2	ZNF208	19	22155696	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	6931176	22155696	36973287	231	3295										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	9	16	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M		Atlas-SNP	.											RHPN2,face,carcinoma,0,2	RHPN2	107	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A						scavenged	.						84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	38	4	0.105263	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG	.	.	none		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		T	33517507	C	T	33517507	3	4	13	1	0	0	0	0	1	0	0	0	13351	565	20	2	1895	2	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11361811	33517507	25611476	232	3296										
PSG8	440533	hgsc.bcm.edu	37	chr19	43258570	43258570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gcatagagcccgctatgcttTgtagtaatttgggggataaa	12	6	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:43258570T>C	ENST00000306511.4	-	5	1255	c.1158A>G	c.(1156-1158)acA>acG	p.T386T	PSG8_ENST00000401467.2_Silent_p.T293T|PSG8_ENST00000406636.3_Silent_p.T264T|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Silent_p.T386T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	386	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CGCTATGCTTTGTAGTAATTT	0.473																																					p.T386T		Atlas-SNP	.											PSG8,right_lower_lobe,carcinoma,-1,1	PSG8	101	1	0			c.A1158G						scavenged	.						204	219	214					19																	43258570		2203	4299	6502	SO:0001819	synonymous_variant	440533	exon5			ATGCTTTGTAGTA	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1158A>G	19.37:g.43258570T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_001130167	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	CCDS33037.1																																																																																			.	.	none		0.473	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			C	43258570	T	C	43258570	2	2	13	1	0	0	0	0	0	0	0	1	12661	1799	63	2		2	PSG8	19	43258570	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	9741063	43258570	15870413	233	3297										
ZNF233	353355	hgsc.bcm.edu	37	chr19	44777859	44777859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagatgtcaggtatatgcccGgagctccaaccagaactcct	9	13	1	2	rs569951523		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:44777859G>A	ENST00000391958.2	+	5	1173	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTATATGCCCGGAGCTCCAAC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.001				p.R349Q		Atlas-SNP	.											.	ZNF233	73	.	0			c.G1046A						PASS	.						102	97	99					19																	44777859		2203	4300	6503	SO:0001583	missense	353355	exon5			ATGCCCGGAGCTC	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1046G>A	19.37:g.44777859G>A	ENSP00000375820:p.Arg349Gln	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	142	44	0.309859	NM_001207005	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610015	0.28712	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.15718	2.4;2.4	4.29	-0.708	0.11241	.	.	.	.	.	T	0.11024	0.0269	L	0.28400	0.85	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.62326	D	0.03	0.0227	5.1768	0.15139	0.6014:0.1424:0.2562:0.0	.	349	A6NK53	ZN233_HUMAN	Q	331;349;270	ENSP00000334957:R331Q;ENSP00000375820:R349Q	ENSP00000280305:R270Q	R	+	2	0	ZNF233	49469699	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.049000	0.14099	-0.106000	0.12110	-0.355000	0.07637	CGG	.	.	none		0.527	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		A	44777859	G	A	44777859	3	1	13	1	0	0	0	0	1	0	0	0	17783	1116	39	1	1060	1	ZNF233	19	44777859	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	1519289	44777859	14351124	234	3298										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888042	52888042	+	Silent	SNP	G	G	T													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aatcatcatagaatgcacacGggagagcaaccttacaaatg					rs75507701	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:52888042G>T	ENST00000422689.2	+	4	1224	c.1209G>T	c.(1207-1209)acG>acT	p.T403T		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	403					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAATGCACACGGGAGAGCAAC	0.403																																					p.T403T		Atlas-SNP	.											ZNF880,caecum,carcinoma,0,1	ZNF880	45	1	0			c.G1209T						scavenged	.						65	59	61					19																	52888042		1568	3582	5150	SO:0001819	synonymous_variant	400713	exon4			GCACACGGGAGAG	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1209G>T	19.37:g.52888042G>T		Somatic	28	2	0.0714286		WXS	Illumina HiSeq	Phase_I	37	9	0.243243	NM_001145434	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																			G|0.910;T|0.090	0.090	strong		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		T	52888042	G	T	52888042	2	4	13	1	0	0	0	0	0	0	0	1	18194	1103	39	4		4	ZNF880	19	52888042	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	8110183	52888042	6240941	235	3299	59	2								
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888049	52888049	+	Missense_Mutation	SNP	C	C	A													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	atagaatgcacacgggagagCaaccttacaaatgtaatgaa					rs75346003	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:52888049C>A	ENST00000422689.2	+	4	1231	c.1216C>A	c.(1216-1218)Caa>Aaa	p.Q406K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	406					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CACGGGAGAGCAACCTTACAA	0.398																																					p.Q406K		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,2	ZNF880	45	2	0			c.C1216A						scavenged	.						69	63	65					19																	52888049		1568	3582	5150	SO:0001583	missense	400713	exon4			GGAGAGCAACCTT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1216C>A	19.37:g.52888049C>A	ENSP00000406318:p.Gln406Lys	Somatic	28	2	0.0714286		WXS	Illumina HiSeq	Phase_I	33	9	0.272727	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.634723	0.00114	.	.	ENSG00000221923	ENST00000422689	T	0.10860	2.83	1.84	0.731	0.18277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00128	-2.045	0.20638	N	0.999879	B	0.17667	0.023	B	0.14023	0.01	T	0.46105	-0.9215	8	.	.	.	.	6.7224	0.23338	0.7399:0.2601:0.0:0.0	.	406	Q6PDB4	ZN880_HUMAN	K	406	ENSP00000406318:Q406K	.	Q	+	1	0	ZNF880	57579861	0.006000	0.16342	0.407000	0.26434	0.151000	0.21798	0.708000	0.25719	0.007000	0.14760	-0.493000	0.04662	CAA	C|0.872;A|0.128	0.128	strong		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52888049	C	A	52888049	3	1	13	1	0	0	0	0	1	0	0	0	18194	711	25	4	1230	4	ZNF880	19	52888049	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	7	52888049	6240934	236	3300	59	2								
ZNF845	91664	hgsc.bcm.edu	37	chr19	53854856	53854856	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agtgtggcaagaccttcagtCgaaattcagcccttgtaatt	9	9	2	1	rs372054990		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:53854856C>A	ENST00000595091.1	+	5	1147	c.928C>A	c.(928-930)Cga>Aga	p.R310R	ZNF845_ENST00000458035.1_Silent_p.R310R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GACCTTCAGTCGAAATTCAGC	0.418																																					p.R310R		Atlas-SNP	.											ZNF845,colon,carcinoma,0,1	ZNF845	101	1	0			c.C928A						scavenged	.						99	85	89					19																	53854856		692	1591	2283	SO:0001819	synonymous_variant	91664	exon4			TTCAGTCGAAATT	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.928C>A	19.37:g.53854856C>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	73	2	0.0273973	NM_138374		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																			.	.	alt		0.418	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		A	53854856	C	A	53854856	2	1	13	1	0	0	0	0	0	0	0	1	18188	876	31	4		4	ZNF845	19	53854856	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	966807	53854856	5274127	237	3301										
LILRA2	11027	hgsc.bcm.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgggccctgtgagcccctccCacgggggccagtacagatgc	14	15	0	2	rs532565720	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051				p.H289Y		Atlas-SNP	.											LILRA2,NS,carcinoma,0,1	LILRA2	99	1	1	Substitution - Missense(1)	kidney(1)	c.C865T						scavenged	.						49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	11027	exon5			CCCTCCCACGGGG	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr	Somatic	264	9	0.0340909		WXS	Illumina HiSeq	Phase_I	307	13	0.0423453	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC	.	.	none		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55086932	C	T	55086932	3	4	13	1	0	0	0	0	1	0	0	0	8785	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1232076	55086932	4042051	238	3302										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55148031	55148031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	agagaaatggcctctcctccTtccccactgtctggggaatt	9	13	2	1	rs41308746	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr19:55148031T>C	ENST00000396331.1	+	15	2091	c.1734T>C	c.(1732-1734)ccT>ccC	p.P578P	LILRB1_ENST00000396315.1_Silent_p.P580P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P562P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.P578P|LILRB1_ENST00000427581.2_Silent_p.P629P|LILRB1_ENST00000396332.4_Silent_p.P579P|LILRB1_ENST00000396317.1_Silent_p.P562P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.P578P|LILRB1_ENST00000324602.7_Silent_p.P580P|LILRB1_ENST00000396327.3_Silent_p.P579P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCCTCCTTCCCCACTGT	0.582										HNSCC(37;0.09)			t|||	554	0.110623	0.1785	0.0893	5008	,	,		16680	0.0139		0.1491	False		,,,				2504	0.0941				p.P580P		Atlas-SNP	.											LILRB1,NS,carcinoma,+2,1	LILRB1	140	1	0			c.T1740C						scavenged	.						111	95	100					19																	55148031		2200	4295	6495	SO:0001819	synonymous_variant	10859	exon14			TCCTCCTTCCCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1734T>C	19.37:g.55148031T>C		Somatic	298	4	0.0134228		WXS	Illumina HiSeq	Phase_I	320	8	0.025	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																			.	.	weak		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55148031	T	C	55148031	2	2	13	1	0	0	0	0	0	0	0	1	8790	1596	56	3		3	LILRB1	19	55148031	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	61099	55148031	3980952	239	3303										
CDS2	8760	hgsc.bcm.edu	37	chr20	5157301	5157301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttgtgtcccgcaggtgatgtGcgttcagattaagtgtttcc	12	8	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:5157301G>A	ENST00000460006.1	+	4	606	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'Flank|CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	100					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CAGGTGATGTGCGTTCAGATT	0.443																																					p.C100Y		Atlas-SNP	.											CDS2,caecum,carcinoma,-1,1	CDS2	27	1	0			c.G299A						scavenged	.						221	201	208					20																	5157301		2203	4300	6503	SO:0001583	missense	8760	exon4			TGATGTGCGTTCA	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.299G>A	20.37:g.5157301G>A	ENSP00000419879:p.Cys100Tyr	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	159	4	0.0251572	NM_003818	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	5.750	0.322711	0.10900	.	.	ENSG00000101290	ENST00000460006;ENST00000450570	T;T	0.41758	0.99;0.99	4.72	4.72	0.59763	.	0.086042	0.85682	D	0.000000	T	0.36248	0.0960	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31174	0.311;0.174;0.174	B;B;B	0.36335	0.222;0.222;0.222	T	0.13124	-1.0521	10	0.30078	T	0.28	-2.0E-4	16.7771	0.85553	0.0:0.0:1.0:0.0	.	100;100;100	B3KM95;O95674;B3KNK4	.;CDS2_HUMAN;.	Y	100;45	ENSP00000419879:C100Y;ENSP00000403205:C45Y	ENSP00000403205:C45Y	C	+	2	0	CDS2	5105301	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.641000	0.83368	2.607000	0.88179	0.561000	0.74099	TGC	.	.	none		0.443	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			A	5157301	G	A	5157301	3	1	13	1	0	0	0	0	1	0	0	0	3178	1319	46	2	313	2	CDS2	20	5157301	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10		5157301	57868219	240	3304										
MACROD2	140733	hgsc.bcm.edu	37	chr20	14665585	14665585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	acatgcaaaaatcacatgtgGctatgaccttcctgcaaaat	6	10	1	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:14665585G>T	ENST00000310348.4	+	5	398	c.398G>T	c.(397-399)gGc>gTc	p.G133V	MACROD2_ENST00000217246.4_Missense_Mutation_p.G133V|MACROD2_ENST00000464883.1_3'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	133	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATCACATGTGGCTATGACCTT	0.418																																					p.G133V		Atlas-SNP	.											.	MACROD2	34	.	0			c.G398T						PASS	.						133	125	127					20																	14665585		1924	4158	6082	SO:0001583	missense	140733	exon5			CATGTGGCTATGA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.398G>T	20.37:g.14665585G>T	ENSP00000309809:p.Gly133Val	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	139	51	0.366906	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947925	0.92593	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.26957	1.7;1.7	5.62	5.62	0.85841	Appr-1-p processing (3);	0.000000	0.64402	D	0.000006	T	0.70666	0.3250	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83547	0.0099	10	0.87932	D	0	-13.8763	18.6571	0.91458	0.0:0.0:1.0:0.0	.	133;133	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	V	133	ENSP00000217246:G133V;ENSP00000309809:G133V	ENSP00000217246:G133V	G	+	2	0	MACROD2	14613585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.642000	0.89623	0.655000	0.94253	GGC	.	.	none		0.418	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	14665585	G	T	14665585	3	4	13	1	0	0	0	0	1	0	0	0	9146	1203	42	4	416	4	MACROD2	20	14665585	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	9508284	14665585	48359935	241	3305										
MACROD2	140733	hgsc.bcm.edu	37	chr20	16021849	16021849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtctttttctcttccagctcCaggcgaggacacacctagga	9	13	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:16021849C>T	ENST00000310348.4	+	16	1157	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	MACROD2_ENST00000378058.3_Missense_Mutation_p.P151L|MACROD2_ENST00000217246.4_Missense_Mutation_p.P386L|MACROD2_ENST00000407045.3_Missense_Mutation_p.P37L|MACROD2_ENST00000402914.1_Missense_Mutation_p.P151L			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	386	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTTCCAGCTCCAGGCGAGGAC	0.478																																					p.P386L		Atlas-SNP	.											.	MACROD2	34	.	0			c.C1157T						PASS	.						69	68	69					20																	16021849		2203	4299	6502	SO:0001583	missense	140733	exon16			CAGCTCCAGGCGA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1157C>T	20.37:g.16021849C>T	ENSP00000309809:p.Pro386Leu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.409786	0.00193	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.43688	2.54;2.55;0.94;0.94	5.37	-1.96	0.07525	.	0.458260	0.18726	N	0.132894	T	0.13670	0.0331	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.20338	-1.0278	10	0.30854	T	0.27	-3.5581	6.857	0.24046	0.3256:0.4397:0.0:0.2348	.	37;386;386	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	L	386;386;151;151;37	ENSP00000217246:P386L;ENSP00000309809:P386L;ENSP00000385290:P151L;ENSP00000367297:P151L	ENSP00000217246:P386L	P	+	2	0	MACROD2	15969849	0.197000	0.23362	0.044000	0.18714	0.188000	0.23474	-0.121000	0.10643	-0.211000	0.10124	-1.268000	0.01426	CCA	.	.	none		0.478	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	16021849	C	T	16021849	3	4	13	1	0	0	0	0	1	0	0	0	9146	594	21	2	1219	2	MACROD2	20	16021849	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1356264	16021849	47003671	242	3306										
DEFB119	245932	hgsc.bcm.edu	37	chr20	29976828	29976828	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aacctgaaacaaagtcatttCtatctattagttatatttgt	4	6	3	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:29976828C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Silent_p.*89*|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGTCATTTCTATCTATTAG	0.363																																					p.X89X		Atlas-SNP	.											DEFB119_ENST00000376315,NS,carcinoma,0,1	DEFB119	37	1	0			c.G267A						scavenged	.						78	71	74					20																	29976828		2203	4300	6503	SO:0001627	intron_variant	245932	exon2			TCATTTCTATCTA	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1397G>A	20.37:g.29976828C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_153323	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Silent	SNP	ENST00000376321.3	37	CCDS13178.1																																																																																			.	.	none		0.363	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		T	29976828	C	T	29976828	1	4	13	0	1	0	0	0	0	0	0	0	4407	924	32	2		2	DEFB119	20	29976828	Intron	SNP	C	TCGA-FF-8046-01A-11D-2210-10	13954979	29976828	33048692	243	3307										
TRPC4AP	26133	hgsc.bcm.edu	37	chr20	33645345	33645345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttctgtccccggatagagatCgtaggcctcataagaatttc	9	10	2	2	rs150179620		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:33645345C>T	ENST00000252015.2	-	4	533	c.444G>A	c.(442-444)acG>acA	p.T148T	TRPC4AP_ENST00000432634.2_Silent_p.T109T|TRPC4AP_ENST00000451813.2_Silent_p.T148T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	148	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGATAGAGATCGTAGGCCTCA	0.363																																					p.T148T		Atlas-SNP	.											TRPC4AP,NS,carcinoma,0,1	TRPC4AP	64	1	0			c.G444A						scavenged	.	C	,	0,4406		0,0,2203	91	95	94		444,444	0	1	20	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	148/798,148/790	33645345	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26133	exon4			AGAGATCGTAGGC	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.444G>A	20.37:g.33645345C>T		Somatic	118	2	0.0169492		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_199368	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	CCDS13246.1																																																																																			C|1.000;T|0.000	0.000	weak		0.363	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33645345	C	T	33645345	2	4	13	1	0	0	0	0	0	0	0	1	16578	871	31	1		1	TRPC4AP	20	33645345	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	3668517	33645345	29380175	244	3308										
FAM83D	81610	hgsc.bcm.edu	37	chr20	37555116	37555116	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgtccgagggcctggacgagGtgcccgccgcctgcctgtcg	16	15	0	0	rs3752290	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:37555116G>C	ENST00000217429.4	+	1	162	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	11					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCTGGACGAGGTGCCCGCCGC	0.701													C|||	2010	0.401358	0.5076	0.3847	5008	,	,		10968	0.4157		0.3429	False		,,,				2504	0.3149				p.V41L		Atlas-SNP	.											FAM83D,NS,carcinoma,0,2	FAM83D	60	2	0			c.G121C						scavenged	.	C	LEU/VAL	1601,2097		394,813,642	8	11	10		121	3.4	0.9	20	dbSNP_107	10	2399,5669		370,1659,2005	no	missense	FAM83D	NM_030919.2	32	764,2472,2647	CC,CG,GG		29.7348,43.2937,33.9963	benign	41/616	37555116	4000,7766	1849	4034	5883	SO:0001583	missense	81610	exon1			GACGAGGTGCCCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.121G>C	20.37:g.37555116G>C	ENSP00000217429:p.Val41Leu	Somatic	19	1	0.0526316		WXS	Illumina HiSeq	Phase_I	17	4	0.235294	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	870	0.3983516483516483	269	0.5467479674796748	136	0.3756906077348066	202	0.3531468531468531	263	0.3469656992084433	C	0.704	-0.789777	0.02884	0.432937	0.297348	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	5.48	3.44	0.39384	.	0.490125	0.16258	N	0.222396	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38757	-0.9646	9	0.06891	T	0.86	.	7.0157	0.24887	0.0:0.4204:0.417:0.1626	rs3752290;rs17846649;rs17859744;rs3752290	11;11	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	L	41;11	ENSP00000217429:V41L	ENSP00000217429:V41L	V	+	1	0	FAM83D	36988530	0.003000	0.15002	0.905000	0.35620	0.017000	0.09413	0.278000	0.18753	0.696000	0.31696	-0.120000	0.15030	GTG	G|0.618;C|0.382	0.382	strong		0.701	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			C	37555116	G	C	37555116	3	2	13	1	0	0	0	0	1	0	0	0	5636	1261	44	4	123	4	FAM83D	20	37555116	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	3909771	37555116	25470404	245	3309										
LPIN3	64900	hgsc.bcm.edu	37	chr20	39977298	39977299	+	Frame_Shift_Ins	INS	-	-	G													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gtgcacctcacccatcccttINSgggggggtctgtctggcttc					rs546459459		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:39977298_39977299insG	ENST00000373257.3	+	4	419_420	c.328_329insG	c.(328-330)tggfs	p.W110fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCCATCCCTTGGGGGGGTCTG	0.663																																					p.W110fs		Pindel,Atlas-Indel	.											.	LPIN3	69	.	0			c.328_329insG						PASS	.																																			SO:0001589	frameshift_variant	64900	exon4			.	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.335dupG	20.37:g.39977305_39977305dupG	ENSP00000362354:p.Trp110fs	Somatic	40	.	.		WXS	Illumina HiSeq	Phase_I	56	12	0.214	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	CCDS33469.1																																																																																			.	.	none		0.663	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		G	39977299	-	G	39977298	7	5	13	1	0	1	1	0	0	0	0	0	8920	1812	63	0	338	0	LPIN3	20	39977298	Frame_Shift_Ins	INS	-	TCGA-FF-8046-01A-11D-2210-10	2422182	39977298	23048222	246	3310										
ZMYND8	23613	hgsc.bcm.edu	37	chr20	45853094	45853094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cagttggcgcaccactgcttCttcttggtctcatccaccgc	8	16	3	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:45853094C>T	ENST00000311275.7	-	19	3325	c.3072G>A	c.(3070-3072)aaG>aaA	p.K1024K	ZMYND8_ENST00000461685.1_Silent_p.K998K|ZMYND8_ENST00000536340.1_Silent_p.K1051K|ZMYND8_ENST00000355972.4_Silent_p.K1024K|ZMYND8_ENST00000458360.2_Silent_p.K892K|ZMYND8_ENST00000446994.2_Silent_p.K915K|ZMYND8_ENST00000540497.1_Silent_p.K972K|ZMYND8_ENST00000352431.2_Silent_p.K998K|ZMYND8_ENST00000396281.4_Silent_p.K1024K|ZMYND8_ENST00000372023.3_Silent_p.K946K|ZMYND8_ENST00000262975.4_Silent_p.K978K|ZMYND8_ENST00000471951.2_Silent_p.K1044K|ZMYND8_ENST00000360911.3_Silent_p.K973K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1024					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ACCACTGCTTCTTCTTGGTCT	0.592																																					p.K998K		Atlas-SNP	.											ZMYND8,NS,carcinoma,-2,1	ZMYND8	166	1	0			c.G2994A						scavenged	.						241	194	210					20																	45853094		2203	4300	6503	SO:0001819	synonymous_variant	23613	exon19			CTGCTTCTTCTTG	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3072G>A	20.37:g.45853094C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	149	2	0.0134228	NM_183047	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	C	9.153	1.016789	0.19355	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.45	4.52	0.55395	.	.	.	.	.	T	0.69806	0.3152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68934	-0.5278	4	.	.	.	-14.8364	14.1844	0.65595	0.0:0.9283:0.0:0.0717	.	.	.	.	K	906	.	.	E	-	1	0	ZMYND8	45286501	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.018000	0.70811	1.300000	0.44818	-0.136000	0.14681	GAA	.	.	none		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		T	45853094	C	T	45853094	2	4	13	1	0	0	0	0	0	0	0	1	17708	912	32	2		2	ZMYND8	20	45853094	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	5875796	45853094	17172426	247	3311										
SULF2	55959	hgsc.bcm.edu	37	chr20	46295036	46295036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttaatggggttggcggctgaGtagtcgggaaggcctccagt	17	7	0	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:46295036G>A	ENST00000359930.4	-	12	2624	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	SULF2_ENST00000467815.1_Silent_p.Y591Y|SULF2_ENST00000484875.1_Silent_p.Y591Y|SULF2_ENST00000361612.4_Silent_p.Y591Y	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	591					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Y591Y(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGGCGGCTGAGTAGTCGGGAA	0.612																																					p.Y591Y		Atlas-SNP	.											SULF2,NS,carcinoma,0,1	SULF2	131	1	1	Substitution - coding silent(1)	prostate(1)	c.C1773T						scavenged	.						118	118	118					20																	46295036		2203	4300	6503	SO:0001819	synonymous_variant	55959	exon12			GGCTGAGTAGTCG	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1773C>T	20.37:g.46295036G>A		Somatic	167	2	0.011976		WXS	Illumina HiSeq	Phase_I	243	5	0.0205761	NM_001161841	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																			.	.	none		0.612	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46295036	G	A	46295036	2	1	13	1	0	0	0	0	0	0	0	1	15370	1024	36	2		2	SULF2	20	46295036	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	441942	46295036	16730484	248	3312										
YTHDF1	54915	hgsc.bcm.edu	37	chr20	61835026	61835026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ctccgttactgagctgtccgTaggtggtgaggtatggaatc	14	8	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr20:61835026T>C	ENST00000370339.3	-	4	607	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	YTHDF1_ENST00000370333.4_Missense_Mutation_p.Y39C|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	89							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GAGCTGTCCGTAGGTGGTGAG	0.527																																					p.Y89C		Atlas-SNP	.											YTHDF1,NS,carcinoma,+1,1	YTHDF1	66	1	0			c.A266G						scavenged	.						109	112	111					20																	61835026		2203	4300	6503	SO:0001583	missense	54915	exon4			TGTCCGTAGGTGG	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.266A>G	20.37:g.61835026T>C	ENSP00000359364:p.Tyr89Cys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	120	3	0.025	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777694	0.70107	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.54279	0.58;0.58	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76072	-0.3093	10	0.72032	D	0.01	-19.8411	15.1531	0.72717	0.0:0.0:0.0:1.0	.	89	Q9BYJ9	YTHD1_HUMAN	C	89;39	ENSP00000359364:Y89C;ENSP00000359358:Y39C	ENSP00000359358:Y39C	Y	-	2	0	YTHDF1	61305471	1.000000	0.71417	0.931000	0.37212	0.925000	0.55904	7.927000	0.87577	1.983000	0.57843	0.459000	0.35465	TAC	.	.	none		0.527	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		C	61835026	T	C	61835026	3	2	13	1	0	0	0	0	1	0	0	0	17495	1638	57	2	1421	2	YTHDF1	20	61835026	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	15539990	61835026	1190494	249	3313										
TPTE	7179	hgsc.bcm.edu	37	chr21	10971306	10971306	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	actcacctgtcattggggccGagctcaatgatgactcccgc	10	14	3	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr21:10971306G>A	ENST00000361285.4	-	5	380	c.51C>T	c.(49-51)ctC>ctT	p.L17L	TPTE_ENST00000342420.5_Silent_p.L17L|TPTE_ENST00000298232.7_Silent_p.L17L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	17					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTGGGGCCGAGCTCAATGA	0.468																																					p.L17L		Atlas-SNP	.											.	TPTE	513	.	0			c.C51T						PASS	.						130	100	110					21																	10971306		2203	4300	6503	SO:0001819	synonymous_variant	7179	exon5			GGGGCCGAGCTCA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.51C>T	21.37:g.10971306G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	124	15	0.120968	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																			.	.	none		0.468	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10971306	G	A	10971306	2	1	13	1	0	0	0	0	0	0	0	1	16427	1045	37	1		1	TPTE	21	10971306	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10		10971306	37158589	250	3314										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31692282	31692282	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gggcagaggtcgatggaggtGagaggaatatggcgggaggt	22	3	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr21:31692282G>T	ENST00000360542.3	-	1	325	c.72C>A	c.(70-72)ctC>ctA	p.L24L		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	24						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CGATGGAGGTGAGAGGAATAT	0.537																																					p.L24L		Atlas-SNP	.											KRTAP26-1,NS,carcinoma,0,1	KRTAP26-1	58	1	0			c.C72A						PASS	.						61	64	63					21																	31692282		2203	4300	6503	SO:0001819	synonymous_variant	388818	exon1			GGAGGTGAGAGGA	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.72C>A	21.37:g.31692282G>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	157	57	0.363057	NM_203405	B0RZD3	Silent	SNP	ENST00000360542.3	37	CCDS13588.1																																																																																			.	.	none		0.537	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31692282	G	T	31692282	2	4	13	1	0	0	0	0	0	0	0	1	8543	1277	45	4		4	KRTAP26-1	21	31692282	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	20720976	31692282	16437613	251	3315										
KRTAP27-1	643812	hgsc.bcm.edu	37	chr21	31709734	31709734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	attggagtaagtagtttggaCaactccggggaagcagttac	13	6	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr21:31709734C>A	ENST00000382835.2	-	1	278	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	85						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GTAGTTTGGACAACTCCGGGG	0.488																																					p.V85F		Atlas-SNP	.											KRTAP27-1,colon,carcinoma,0,1	KRTAP27-1	53	1	0			c.G253T						scavenged	.						154	149	150					21																	31709734		2203	4300	6503	SO:0001583	missense	643812	exon1			TTTGGACAACTCC	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.253G>T	21.37:g.31709734C>A	ENSP00000372286:p.Val85Phe	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	221	3	0.0135747	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461406	0.26248	.	.	ENSG00000206107	ENST00000382835	T	0.32988	1.43	4.12	1.19	0.21007	.	1.300600	0.05823	N	0.616050	T	0.31606	0.0802	M	0.62723	1.935	0.09310	N	1	B	0.22146	0.065	B	0.25759	0.063	T	0.37244	-0.9714	10	0.59425	D	0.04	0.0818	4.7009	0.12827	0.3854:0.5098:0.0:0.1048	.	85	Q3LI81	KR271_HUMAN	F	85	ENSP00000372286:V85F	ENSP00000372286:V85F	V	-	1	0	KRTAP27-1	30631605	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	-0.807000	0.04520	0.257000	0.21650	0.591000	0.81541	GTC	.	.	none		0.488	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709734	C	A	31709734	3	1	13	1	0	0	0	0	1	0	0	0	8544	478	17	4	374	4	KRTAP27-1	21	31709734	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	17452	31709734	16420161	252	3316										
PRDM15	63977	hgsc.bcm.edu	37	chr21	43248563	43248563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggtccagcatgacgtccttgCggtagaacatcttgctgcag	12	11	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr21:43248563C>T	ENST00000269844.3	-	19	2701	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	PRDM15_ENST00000538201.1_Missense_Mutation_p.R518H|PRDM15_ENST00000422911.1_Missense_Mutation_p.R555H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R498H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R535H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	864					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)	p.R864L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACGTCCTTGCGGTAGAACAT	0.612																																					p.R864H		Atlas-SNP	.											PRDM15,NS,carcinoma,0,1	PRDM15	110	1	1	Substitution - Missense(1)	lung(1)	c.G2591A						scavenged	.						294	248	264					21																	43248563		2203	4300	6503	SO:0001583	missense	63977	exon19			TCCTTGCGGTAGA	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2591G>A	21.37:g.43248563C>T	ENSP00000269844:p.Arg864His	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	146	4	0.0273973	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	32|32	5.140128|5.140128	0.94560|0.94560	.|.	.|.	ENSG00000141956|ENSG00000141956	ENST00000380489|ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.|T;T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57;1.57	4.46|4.46	4.46|4.46	0.54185|0.54185	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.45155|0.45155	0.1328|0.1328	L|L	0.35414|0.35414	1.06|1.06	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.999	T|T	0.41662|0.41662	-0.9496|-0.9496	6|9	0.12766|0.49607	T|T	0.61|0.09	-10.3847|-10.3847	16.4845|16.4845	0.84181|0.84181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|864;555;535	.|P57071;E9PDJ6;E9PF37	.|PRD15_HUMAN;.;.	T|H	501|555;535;518;498;864	.|ENSP00000408592:R555H;ENSP00000381556:R535H;ENSP00000444044:R518H;ENSP00000390245:R498H;ENSP00000269844:R864H	ENSP00000369856:A501T|ENSP00000269844:R864H	A|R	-|-	1|2	0|0	PRDM15|PRDM15	42121632|42121632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.251000|7.251000	0.78297|0.78297	2.186000|2.186000	0.69663|0.69663	0.556000|0.556000	0.70494|0.70494	GCA|CGC	.	.	none		0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		T	43248563	C	T	43248563	3	4	13	1	0	0	0	0	1	0	0	0	12456	768	27	1	1984	1	PRDM15	21	43248563	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11538829	43248563	4881332	253	3317										
PCBP3	54039	hgsc.bcm.edu	37	chr21	47319531	47319531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	aggaagttggaagcatcatcGggaaggtaattattgattga	13	3	1	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr21:47319531G>A	ENST00000400314.1	+	5	522	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	PCBP3_ENST00000449640.1_Missense_Mutation_p.G62R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G62R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G62R|PCBP3_ENST00000400304.1_Missense_Mutation_p.G30R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G62R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	62	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGCATCATCGGGAAGGTAAT	0.488																																					p.G62R		Atlas-SNP	.											PCBP3_ENST00000400314,NS,carcinoma,-2,2	PCBP3	82	2	0			c.G184A						scavenged	.						134	124	127					21																	47319531		1898	4125	6023	SO:0001583	missense	54039	exon3			ATCATCGGGAAGG	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.184G>A	21.37:g.47319531G>A	ENSP00000383168:p.Gly62Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	109	3	0.0275229	NM_001130141	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369031	0.82463	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000400305;ENST00000400304	D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.2	4.2	0.49525	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.	.	.	.	D	0.96005	0.8699	H	0.94222	3.51	0.80722	D	1	P;P;D;D;P;D;D	0.89917	0.872;0.956;1.0;0.999;0.914;1.0;0.998	P;P;D;D;P;D;D	0.81914	0.703;0.808;0.995;0.974;0.555;0.991;0.968	D	0.97442	1.0022	9	0.87932	D	0	-11.7664	17.4452	0.87577	0.0:0.0:1.0:0.0	.	30;62;30;62;62;62;62	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	R	62;62;62;62;62;38;30	ENSP00000383168:G62R;ENSP00000383165:G62R;ENSP00000383164:G62R;ENSP00000383163:G62R;ENSP00000401198:G62R;ENSP00000383160:G38R;ENSP00000383159:G30R	ENSP00000383159:G30R	G	+	1	0	PCBP3	46143959	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.107000	0.77047	2.288000	0.76882	0.561000	0.74099	GGG	.	.	none		0.488	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			A	47319531	G	A	47319531	3	1	13	1	0	0	0	0	1	0	0	0	11502	1116	39	1	194	1	PCBP3	21	47319531	Missense_Mutation	SNP	G	TCGA-FF-8046-01A-11D-2210-10	4070968	47319531	810364	254	3318										
SEPT5	5413	hgsc.bcm.edu	37	chr22	19709201	19709201	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gttataggcagcaacacggtGgtggaggccaaggggcagcg	18	8	0	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr22:19709201G>T	ENST00000455784.2	+	9	881	c.756G>T	c.(754-756)gtG>gtT	p.V252V	SEPT5_ENST00000383045.3_Silent_p.V261V|SEPT5_ENST00000406395.1_Silent_p.V252V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Silent_p.V261V	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	252	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAACACGGTGGTGGAGGCCA	0.642																																					p.V261V		Atlas-SNP	.											.	SEPT5	32	.	0			c.G783T						PASS	.						38	48	44					22																	19709201		2203	4299	6502	SO:0001819	synonymous_variant	5413	exon8			CACGGTGGTGGAG	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.756G>T	22.37:g.19709201G>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	108	5	0.0462963	NM_001009939	O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	CCDS13764.1																																																																																			.	.	none		0.642	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		T	19709201	G	T	19709201	2	4	13	1	0	0	0	0	0	0	0	1	14067	1335	47	4		4	SEPT5	22	19709201	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10		19709201	31595365	255	3319										
SEC14L3	266629	hgsc.bcm.edu	37	chr22	30867895	30867895	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	gggggaggggctctcaccttGgccagggtctctgcctgttt	16	11	2	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr22:30867895G>C	ENST00000215812.4	-	1	141	c.51C>G	c.(49-51)gcC>gcG	p.A17A	SEC14L3_ENST00000415957.2_5'Flank|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000540910.1_5'Flank	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	17						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCTCACCTTGGCCAGGGTCT	0.622																																					p.A17A	Esophageal Squamous(108;290 1516 3584 23771 37333)	Atlas-SNP	.											.	SEC14L3	46	.	0			c.C51G						PASS	.						63	65	64					22																	30867895		2203	4300	6503	SO:0001819	synonymous_variant	266629	exon1			CACCTTGGCCAGG	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.51C>G	22.37:g.30867895G>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	12	0.272727	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	CCDS13877.1																																																																																			.	.	none		0.622	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30867895	G	C	30867895	2	2	13	1	0	0	0	0	0	0	0	1	13983	1335	47	4		4	SEC14L3	22	30867895	Silent	SNP	G	TCGA-FF-8046-01A-11D-2210-10	11158694	30867895	20436671	256	3320										
RFPL3	10738	hgsc.bcm.edu	37	chr22	32754250	32754250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	accgtctgcctcaagtgcatCaattcgctgcagaaggagcc	10	13	3	1	rs376474772	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr22:32754250C>T	ENST00000249007.4	+	1	397	c.192C>T	c.(190-192)atC>atT	p.I64I	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Silent_p.I35I|RFPL3_ENST00000397468.1_Silent_p.I35I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	64							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCAAGTGCATCAATTCGCTGC	0.532													c|||	6	0.00119808	0.0038	0.0014	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.0				p.I64I		Atlas-SNP	.											RFPL3_ENST00000249007,NS,carcinoma,+2,2	RFPL3	91	2	0			c.C192T						scavenged	.						122	115	117					22																	32754250		2203	4300	6503	SO:0001819	synonymous_variant	10738	exon1			GTGCATCAATTCG	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.192C>T	22.37:g.32754250C>T		Somatic	251	4	0.0159363		WXS	Illumina HiSeq	Phase_I	331	9	0.0271903	NM_001098535	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	CCDS43011.1																																																																																			.	.	weak		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		T	32754250	C	T	32754250	2	4	13	1	0	0	0	0	0	0	0	1	13255	816	29	2		2	RFPL3	22	32754250	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	1886355	32754250	18550316	257	3321										
MPPED1	758	hgsc.bcm.edu	37	chr22	43870629	43870629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	cctgcaggcagcctgccctaCgagtacaagatcgtgatcgc	11	14	0	2	rs532827143	byFrequency	TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041				p.Y140Y		Atlas-SNP	.											MPPED1_ENST00000538182,NS,carcinoma,0,5	MPPED1	59	5	1	Substitution - Nonsense(1)	lung(1)	c.C420T						scavenged	.						98	100	100					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758	exon4			GCCCTACGAGTAC	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.420C>T	22.37:g.43870629C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_001044370	A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	CCDS46723.1																																																																																			.	.	none		0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		T	43870629	C	T	43870629	2	4	13	1	0	0	0	0	0	0	0	1	9741	547	19	1		1	MPPED1	22	43870629	Silent	SNP	C	TCGA-FF-8046-01A-11D-2210-10	11116379	43870629	7433937	258	3322										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45802439	45802439	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ttcggctttttgtaactttcTtttcttttcttcatattctc	3	9	5	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chr22:45802439T>G	ENST00000357450.4	-	4	516	c.517A>C	c.(517-519)Aga>Cga	p.R173R	SMC1B_ENST00000404354.3_Silent_p.R173R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	173					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGTAACTTTCTTTTCTTTTCT	0.368																																					p.R173R		Atlas-SNP	.											.	SMC1B	215	.	0			c.A517C						PASS	.						85	77	80					22																	45802439		1809	4072	5881	SO:0001819	synonymous_variant	27127	exon4			ACTTTCTTTTCTT	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.517A>C	22.37:g.45802439T>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	70	28	0.4	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	CCDS43027.1																																																																																			.	.	none		0.368	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		G	45802439	T	G	45802439	2	3	13	1	0	0	0	0	0	0	0	1	14782	1617	56	5		5	SMC1B	22	45802439	Silent	SNP	T	TCGA-FF-8046-01A-11D-2210-10	1931810	45802439	5502127	259	3323										
DDX3X	1654	hgsc.bcm.edu	37	chrX	41204802	41204802	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tgacctcctaaatgcaacagGtaacattatgaattttttat	5	7	0	2			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chrX:41204802G>T	ENST00000399959.2	+	12	2170		c.e12+1		DDX3X_ENST00000457138.2_Splice_Site|DDX3X_ENST00000478993.1_Splice_Site|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Splice_Site|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AATGCAACAGGTAACATTATG	0.418										HNSCC(61;0.18)																											.		Atlas-SNP	.											.	DDX3X	138	.	0			c.1267+1G>T						PASS	.						77	70	72					X																	41204802		1990	4159	6149	SO:0001630	splice_region_variant	1654	exon11			CAACAGGTAACAT	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1315+1G>T	X.37:g.41204802G>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	129	68	0.527132	NM_001193417	A8K538|B4E3E8|O15536	Splice_Site	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	19.49	3.837914	0.71373	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0725	0.89415	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX3X	41089746	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.737000	0.98831	2.203000	0.70933	0.522000	0.50473	.	.	.	none		0.418	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	Intron	T	41204802	G	T	41204802	5	4	13	1	0	0	0	0	0	0	1	0	4358	1275	44	4	1362	4	DDX3X	23	41204802	Splice_Site	SNP	G	TCGA-FF-8046-01A-11D-2210-10		41204802	114065758	260	3324										
AR	367	hgsc.bcm.edu	37	chrX	66765158	66765159	+	In_Frame_Ins	INS	-	-	GCTGCA													0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	ggcgccagtttgctgctgctINSgcagcagcagcagcagcagc					rs78686797|rs3032358|rs4045402		TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chrX:66765158_66765159insGCTGCA	ENST00000374690.3	+	1	694_695	c.170_171insGCTGCA	c.(169-174)ctgcag>ctGCTGCAgcag	p.57_58LQ>LLQQ	AR_ENST00000504326.1_In_Frame_Ins_p.57_58LQ>LLQQ|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Ins_p.57_58LQ>LLQQ	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Gln-rich.|Modulating.|Poly-Gln.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcagc	0.668									Androgen Insensitivity Syndrome																												p.L57delinsLLQ		Atlas-Indel	.											.	AR	249	.	3	Substitution - Missense(3)	lung(1)|endometrium(1)|central_nervous_system(1)	c.170_171insGCTGCA						PASS	.																																			SO:0001652	inframe_insertion	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	.	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	X.37:g.66765158_66765159insGCTGCA	ENSP00000363822:p.Leu57_Gln58insLeuGln	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	20	14	0.7	NM_000044	A2RUN2|B1AKD7|Q9UD95	In_Frame_Ins	INS	ENST00000374690.3	37	CCDS14387.1																																																																																			.	.	alt		0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		GCTGCA	66765159	-	GCTGCA	66765158	7	5	13	1	0	1	1	0	0	0	0	0	836	1580	55	0	172	0	AR	23	66765158	In_Frame_Ins	INS	-	TCGA-FF-8046-01A-11D-2210-10	25560356	66765158	88505402	261	3325										
NAP1L3	4675	hgsc.bcm.edu	37	chrX	92928071	92928071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tggaaggctcaggtaccctcTtctttctatacaagcggctg	10	11	4	0			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chrX:92928071T>G	ENST00000373079.3	-	1	496	c.233A>C	c.(232-234)aAg>aCg	p.K78T	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K71T	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	78					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGGTACCCTCTTCTTTCTATA	0.612																																					p.K78T		Atlas-SNP	.											.	NAP1L3	81	.	0			c.A233C						PASS	.						16	17	16					X																	92928071		2201	4286	6487	SO:0001583	missense	4675	exon1			ACCCTCTTCTTTC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.233A>C	X.37:g.92928071T>G	ENSP00000362171:p.Lys78Thr	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	40	10	0.25	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	5.105	0.204991	0.09704	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.32988	1.43	3.53	-3.32	0.04973	.	0.287732	0.37348	N	0.002124	T	0.12902	0.0313	N	0.24115	0.695	0.28377	N	0.919728	P	0.34522	0.455	B	0.33568	0.166	T	0.33904	-0.9850	10	0.15066	T	0.55	.	4.8148	0.13362	0.153:0.4055:0.0:0.4415	.	78	Q99457	NP1L3_HUMAN	T	78;71	ENSP00000362171:K78T	ENSP00000362171:K78T	K	-	2	0	NAP1L3	92814727	0.157000	0.22836	0.689000	0.30133	0.173000	0.22820	-0.320000	0.08028	-0.886000	0.03966	-0.509000	0.04479	AAG	.	.	none		0.612	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		G	92928071	T	G	92928071	3	3	13	1	0	0	0	0	1	0	0	0	10158	1609	56	5	1291	5	NAP1L3	23	92928071	Missense_Mutation	SNP	T	TCGA-FF-8046-01A-11D-2210-10	26162913	92928071	62342489	262	3326										
GPR101	83550	hgsc.bcm.edu	37	chrX	136112327	136112327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0581395348837209	15	1	0.849645980841316	0.438238453276047	0.910714285714286	1.26036688400668e-05	0.000103350084488548	0	tcaaggaaaagtagcagaatCgtaggaagggacaatcttgc	12	6	2	1			TCGA-FF-8046-01A-11D-2210-10	TCGA-FF-8046-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aa847c3d-d3a7-46aa-a81b-db5099a458fb	35736b32-0a2a-45c0-aef9-5e7f3d2733aa	g.chrX:136112327C>T	ENST00000298110.1	-	1	1506	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	503						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GTAGCAGAATCGTAGGAAGGG	0.463																																					p.D503N		Atlas-SNP	.											.	GPR101	96	.	0			c.G1507A						PASS	.						82	76	78					X																	136112327		2203	4300	6503	SO:0001583	missense	83550	exon1			CAGAATCGTAGGA	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1507G>A	X.37:g.136112327C>T	ENSP00000298110:p.Asp503Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	33	0.6875	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	2.727	-0.265337	0.05754	.	.	ENSG00000165370	ENST00000298110	T	0.64618	-0.11	5.32	0.906	0.19314	.	.	.	.	.	T	0.38772	0.1053	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.21759	-1.0236	9	0.45353	T	0.12	-6.3616	3.4501	0.07495	0.2836:0.4116:0.0:0.3048	.	503	Q96P66	GP101_HUMAN	N	503	ENSP00000298110:D503N	ENSP00000298110:D503N	D	-	1	0	GPR101	135939993	0.319000	0.24607	0.010000	0.14722	0.254000	0.26022	0.603000	0.24149	0.194000	0.20326	-0.511000	0.04467	GAT	.	.	none		0.463	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			T	136112327	C	T	136112327	3	4	13	1	0	0	0	0	1	0	0	0	6622	884	31	1	22	1	GPR101	23	136112327	Missense_Mutation	SNP	C	TCGA-FF-8046-01A-11D-2210-10	43184256	136112327	19158233	263	3327										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	182	18	0.0989011		WXS	Illumina HiSeq	Phase_I	198	9	0.0454545	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	14	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10		12907708	236342913	1	3328										
TAS1R2	80834	hgsc.bcm.edu	37	chr1	19175988	19175988	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gccacgtccccttgcgggtcGaagaagatttggtggtccag	14	11	0	2	rs146531311	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:19175988G>A	ENST00000375371.3	-	4	1335	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	438					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTTGCGGGTCGAAGAAGATTT	0.582																																					p.F438F		Atlas-SNP	.											TAS1R2,NS,carcinoma,0,1	TAS1R2	134	1	0			c.C1314T						PASS	.	A		0,4406		0,0,2203	75	68	70		1314	-5.2	0	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TAS1R2	NM_152232.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		438/840	19175988	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80834	exon4			CGGGTCGAAGAAG		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1314C>T	1.37:g.19175988G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	125	54	0.432	NM_152232	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																			G|1.000;A|0.000	0.000	strong		0.582	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19175988	G	A	19175988	2	1	14	1	0	0	0	0	0	0	0	1	15560	1049	37	1		1	TAS1R2	1	19175988	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6268280	19175988	230074633	2	3329										
EPHB2	2048	hgsc.bcm.edu	37	chr1	23236932	23236932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgcccatggactgcccgagcGccctgcaccaactcatgctg	10	18	1	0	rs549199396		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:23236932G>A	ENST00000400191.3	+	14	2578	c.2560G>A	c.(2560-2562)Gcc>Acc	p.A854T	EPHB2_ENST00000374630.3_Missense_Mutation_p.A854T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A855T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A849T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.A854T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGCCCGAGCGCCCTGCACCA	0.587																																					p.A855T		Atlas-SNP	.											EPHB2,colon,carcinoma,0,1	EPHB2	257	1	1	Substitution - Missense(1)	large_intestine(1)	c.G2563A						PASS	.						122	89	100					1																	23236932		2203	4300	6503	SO:0001583	missense	2048	exon14			CCGAGCGCCCTGC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2560G>A	1.37:g.23236932G>A	ENSP00000383053:p.Ala854Thr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	78	59	0.75641	NM_004442	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070225	0.76301	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	L	0.28556	0.865	0.80722	D	1	B;B;B;B	0.32203	0.043;0.36;0.066;0.017	B;B;B;B	0.23150	0.006;0.044;0.018;0.019	T	0.76506	-0.2934	10	0.66056	D	0.02	.	16.6405	0.85070	0.0:0.0:1.0:0.0	.	796;854;872;855	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	796;854;854;855;849	ENSP00000363761:A854T;ENSP00000383053:A854T;ENSP00000363763:A855T;ENSP00000363758:A849T	ENSP00000363755:A796T	A	+	1	0	EPHB2	23109519	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.803000	0.85983	2.586000	0.87340	0.555000	0.69702	GCC	.	.	none		0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23236932	G	A	23236932	3	1	14	1	0	0	0	0	1	0	0	0	5175	1087	38	1	2617	1	EPHB2	1	23236932	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4060944	23236932	226013689	3	3330										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608843	26608843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	actggggccgggaccgggacCgggactggggccgggaccgg	22	12	0	0	rs151149897|rs66614970|rs6667693		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:26608843C>A	ENST00000374222.1	-	16	1974	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	UBXN11_ENST00000357089.4_Missense_Mutation_p.G471C|UBXN11_ENST00000374221.3_Missense_Mutation_p.G504C|UBXN11_ENST00000374217.2_Missense_Mutation_p.G471C|UBXN11_ENST00000374223.1_Missense_Mutation_p.G261C|UBXN11_ENST00000314675.7_Missense_Mutation_p.G384C			Q5T124	UBX11_HUMAN	UBX domain protein 11	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactgggg	0.731																																					p.G504C		Atlas-SNP	.											UBXN11,NS,carcinoma,0,1	UBXN11	54	1	2	Insertion - In frame(1)|Deletion - In frame(1)	upper_aerodigestive_tract(1)|ovary(1)	c.G1510T						scavenged	.						16	17	17					1																	26608843		1719	3939	5658	SO:0001583	missense	91544	exon16			CGGGACCGGGACT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1510G>T	1.37:g.26608843C>A	ENSP00000363339:p.Gly504Cys	Somatic	8	2	0.25		WXS	Illumina HiSeq	Phase_I	17	5	0.294118	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	-	8.299	0.819400	0.16607	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.23950	1.88;1.92;2.21;2.14;2.14;2.21	.	.	.	.	.	.	.	.	T	0.24236	0.0587	N	0.08118	0	0.20638	N	0.999871	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.992;0.981	T	0.14172	-1.0482	8	0.72032	D	0.01	.	4.6597	0.12636	0.0:1.0:0.0:0.0	rs6667693	471;384;504	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	C	384;261;471;504;504;471	ENSP00000324721:G384C;ENSP00000363340:G261C;ENSP00000349601:G471C;ENSP00000363338:G504C;ENSP00000363339:G504C;ENSP00000363334:G471C	ENSP00000324721:G384C	G	-	1	0	UBXN11	26481430	0.005000	0.15991	0.167000	0.22817	0.175000	0.22909	-0.694000	0.05115	-0.000000	0.14550	0.000000	0.15137	GGT	C|0.500;A|0.500	0.500	weak		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608843	C	A	26608843	3	1	14	1	0	0	0	0	1	0	0	0	16910	652	23	4	56	4	UBXN11	1	26608843	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3371911	26608843	222641778	4	3331										
OSBPL9	114883	hgsc.bcm.edu	37	chr1	52251499	52251499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttctccaaatgacaagaagTctttttgctcaattgaaggg	9	7	3	3	rs149501959	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:52251499T>C	ENST00000428468.1	+	21	1851	c.1849T>C	c.(1849-1851)Tct>Cct	p.S617P	OSBPL9_ENST00000435686.2_Missense_Mutation_p.S452P|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S627P|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S507P|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S439P|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S604P|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S600P|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S452P|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S536P|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S622P|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S439P|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S635P			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	617					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGACAAGAAGTCTTTTTGCTC	0.388																																					p.S627P		Atlas-SNP	.											OSBPL9_ENST00000447887,bladder,carcinoma,-1,4	OSBPL9	192	4	0			c.T1879C						scavenged	.						128	119	122					1																	52251499		2203	4300	6503	SO:0001583	missense	114883	exon21			AAGAAGTCTTTTT	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1849T>C	1.37:g.52251499T>C	ENSP00000407168:p.Ser617Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	152	2	0.0131579	NM_148909	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	T	3.419	-0.118614	0.06838	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.52	5.52	0.82312	.	0.100643	0.64402	D	0.000001	T	0.06005	0.0156	N	0.00358	-1.6	0.44207	D	0.997032	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.001;0.003;0.006;0.004;0.004	T	0.36286	-0.9754	10	0.02654	T	1	-15.7823	4.1355	0.10169	0.0:0.1526:0.1889:0.6585	.	600;507;633;617;622	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	P	604;635;622;627;452;617;600;536;452;507;439;439	ENSP00000360779:S604P;ENSP00000360775:S635P;ENSP00000337265:S622P;ENSP00000412733:S627P;ENSP00000402646:S452P;ENSP00000407168:S617P;ENSP00000413263:S600P;ENSP00000433675:S536P;ENSP00000433083:S452P;ENSP00000354970:S507P;ENSP00000433279:S439P;ENSP00000431980:S439P	ENSP00000337265:S622P	S	+	1	0	OSBPL9	52024087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.185000	0.42584	2.320000	0.78422	0.528000	0.53228	TCT	T|0.998;A|0.002	.	alt		0.388	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			C	52251499	T	C	52251499	3	2	14	1	0	0	0	0	1	0	0	0	11284	1667	58	2	2035	2	OSBPL9	1	52251499	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	25642656	52251499	196999122	5	3332										
SSX2IP	117178	hgsc.bcm.edu	37	chr1	85116180	85116180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcttcttttgcggctgcctcGagtgcactataagattgtcc	10	11	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:85116180G>A	ENST00000342203.3	-	13	1798	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	SSX2IP_ENST00000605755.1_Missense_Mutation_p.S485L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S512L|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S485L|SSX2IP_ENST00000603677.1_Missense_Mutation_p.S31L	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	512					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGGCTGCCTCGAGTGCACTAT	0.413																																					p.S512L		Atlas-SNP	.											SSX2IP,NS,carcinoma,+1,1	SSX2IP	53	1	0			c.C1535T						scavenged	.						164	179	174					1																	85116180		2203	4300	6503	SO:0001583	missense	117178	exon14			TGCCTCGAGTGCA		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1535C>T	1.37:g.85116180G>A	ENSP00000340279:p.Ser512Leu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	103	2	0.0194175	NM_001166417	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687571	0.29962	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000370612	T;T	0.46819	0.86;0.86	5.25	4.27	0.50696	.	0.449637	0.23826	N	0.044191	T	0.26629	0.0651	L	0.54323	1.7	0.28729	N	0.902588	B;B;B	0.26975	0.165;0.051;0.041	B;B;B	0.22152	0.038;0.004;0.003	T	0.09840	-1.0656	10	0.45353	T	0.12	-1.2358	12.7402	0.57249	0.0:0.1653:0.8347:0.0	.	512;512;485	Q9Y2D8-2;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	L	512;485;512	ENSP00000340279:S512L;ENSP00000412781:S485L	ENSP00000340279:S512L	S	-	2	0	SSX2IP	84888768	0.988000	0.35896	0.925000	0.36789	0.097000	0.18754	2.150000	0.42254	2.619000	0.88677	0.655000	0.94253	TCG	.	.	none		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		A	85116180	G	A	85116180	3	1	14	1	0	0	0	0	1	0	0	0	15203	1059	37	1	317	1	SSX2IP	1	85116180	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	32864681	85116180	164134441	6	3333										
CCDC76	54482	hgsc.bcm.edu	37	chr1	100606488	100606488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagtttggagcgggaaagggAaaattatctcattgggttga	15	3	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:100606488A>G	ENST00000370141.2	+	7	588	c.582A>G	c.(580-582)ggA>ggG	p.G194G		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	194					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CGGGAAAGGGAAAATTATCTC	0.363																																					p.G194G		Atlas-SNP	.											CCDC76,NS,carcinoma,+2,1	.	.	1	0			c.A582G						scavenged	.						131	126	128					1																	100606488		2203	4300	6503	SO:0001819	synonymous_variant	54482	exon7			AAAGGGAAAATTA	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.582A>G	1.37:g.100606488A>G		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	77	2	0.025974	NM_019083	Q5VVL0|Q9NW65	Silent	SNP	ENST00000370141.2	37	CCDS765.1																																																																																			.	.	none		0.363	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		G	100606488	A	G	100606488	2	3	14	1	0	0	0	0	0	0	0	1	2850	233	9	2		2	CCDC76	1	100606488	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	15490308	100606488	148644133	7	3334										
FNDC7	163479	hgsc.bcm.edu	37	chr1	109270645	109270645	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgtattcattcaatgaagtcCgaggcagcaatatgtcatgt	9	7	3	1	rs200404056		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:109270645C>A	ENST00000370017.3	+	7	1604	c.1327C>A	c.(1327-1329)Cga>Aga	p.R443R	FNDC7_ENST00000271311.2_Silent_p.R444R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	443	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAATGAAGTCCGAGGCAGCAA	0.478																																					p.R443R		Atlas-SNP	.											FNDC7_ENST00000370017,NS,malignant_melanoma,-1,4	FNDC7	113	4	0			c.C1327A						scavenged	.						229	206	214					1																	109270645		2203	4300	6503	SO:0001819	synonymous_variant	163479	exon7			GAAGTCCGAGGCA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1327C>A	1.37:g.109270645C>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	166	2	0.0120482	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	2.709	-0.269297	0.05716	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.34	3.27	0.37495	.	.	.	.	.	T	0.60130	0.2245	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.61978	-0.6951	4	.	.	.	-9.0667	14.7969	0.69884	0.3899:0.6101:0.0:0.0	.	.	.	.	Q	218	.	.	P	+	2	0	FNDC7	109072168	0.044000	0.20184	0.999000	0.59377	0.361000	0.29550	0.139000	0.16036	1.228000	0.43614	-0.521000	0.04368	CCG	C|1.000;T|0.000	.	alt		0.478	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		A	109270645	C	A	109270645	2	1	14	1	0	0	0	0	0	0	0	1	5973	644	23	4		4	FNDC7	1	109270645	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	8664157	109270645	139979976	8	3335										
MAGI3	260425	hgsc.bcm.edu	37	chr1	114191926	114191926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gggtttggcttcagggtgctAggaggagatggacctgacca	17	7	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:114191926A>G	ENST00000307546.9	+	13	2298	c.2223A>G	c.(2221-2223)ctA>ctG	p.L741L	MAGI3_ENST00000369617.4_Silent_p.L766L|MAGI3_ENST00000369611.4_Silent_p.L741L|MAGI3_ENST00000369615.1_Silent_p.L741L	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	766					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGTGCTAGGAGGAGATG	0.413																																					p.L741L		Atlas-SNP	.											.	MAGI3	181	.	0			c.A2223G						PASS	.						127	126	126					1																	114191926		2203	4300	6503	SO:0001819	synonymous_variant	260425	exon13			GGTGCTAGGAGGA	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2223A>G	1.37:g.114191926A>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																			.	.	none		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		G	114191926	A	G	114191926	2	3	14	1	0	0	0	0	0	0	0	1	9192	407	15	3		3	MAGI3	1	114191926	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	4921281	114191926	135058695	9	3336										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118567949	118567949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctctgcgggtggcatcaccGttttatagaactcatagtgc	11	10	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:118567949G>A	ENST00000336338.5	-	27	3886	c.3821C>T	c.(3820-3822)aCg>aTg	p.T1274M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1274						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGGCATCACCGTTTTATAGAA	0.463																																					p.T1274M		Atlas-SNP	.											.	SPAG17	263	.	0			c.C3821T						PASS	.						96	93	94					1																	118567949		2203	4300	6503	SO:0001583	missense	200162	exon27			ATCACCGTTTTAT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3821C>T	1.37:g.118567949G>A	ENSP00000337804:p.Thr1274Met	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000155761	ENST00000336338	T	0.19532	2.14	5.58	4.67	0.58626	.	0.573492	0.19744	N	0.107042	T	0.20700	0.0498	L	0.51422	1.61	0.09310	N	1	D	0.71674	0.998	P	0.58130	0.833	T	0.04178	-1.0971	10	0.59425	D	0.04	.	12.3516	0.55151	0.0788:0.0:0.9212:0.0	.	1274	Q6Q759	SPG17_HUMAN	M	1274	ENSP00000337804:T1274M	ENSP00000337804:T1274M	T	-	2	0	SPAG17	118369472	0.008000	0.16893	0.013000	0.15412	0.441000	0.31987	1.697000	0.37784	1.350000	0.45770	0.655000	0.94253	ACG	.	.	none		0.463	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118567949	G	A	118567949	3	1	14	1	0	0	0	0	1	0	0	0	14979	1145	40	1	2938	1	SPAG17	1	118567949	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4376023	118567949	130682672	10	3337										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120839839	120839839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccttcctgcgacgccatgtcTaccaacatttgtagtttcaa	6	13	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:120839839T>C	ENST00000369390.3	+	1	835	c.6T>C	c.(4-6)tcT>tcC	p.S2S	RP11-439A17.7_ENST00000412759.1_RNA|FAM72B_ENST00000471903.2_Intron|FAM72B_ENST00000355228.4_Silent_p.S2S	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	2										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACGCCATGTCTACCAACATTT	0.443																																					p.S2S		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.T6C						scavenged	.						6	7	7					1																	120839839		1624	3651	5275	SO:0001819	synonymous_variant	653820	exon1			CATGTCTACCAAC	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.6T>C	1.37:g.120839839T>C		Somatic	817	5	0.00611995		WXS	Illumina HiSeq	Phase_I	1083	14	0.0129271	NM_001100910	B2RPQ5|Q5QP15	Silent	SNP	ENST00000369390.3	37	CCDS41374.1																																																																																			T|0.500;C|0.500	0.500	weak		0.443	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			C	120839839	T	C	120839839	2	2	14	1	0	0	0	0	0	0	0	1	5615	1509	53	3		3	FAM72B	1	120839839	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	2271890	120839839	128410782	11	3338										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	7	11	3	1	rs55936365		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V		Atlas-SNP	.											NBPF10,NS,carcinoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	kidney(2)	c.C130G						scavenged	.																																			SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	142	7	0.0492958	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT	.	.	weak		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145293535	C	G	145293535	3	3	14	1	0	0	0	0	1	0	0	0	10193	912	32	4	132	4	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	24453696	145293535	103957086	12	3339										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299808	145299808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtccagcgagaaggcagagaTgaacattctagaaatcaatg	11	7	2	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:145299808T>C	ENST00000369338.1	+	2	234	c.44T>C	c.(43-45)aTg>aCg	p.M15T	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.M286T			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	286						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.M286T(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGGCAGAGATGAACATTCTA	0.498																																					p.M286T		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,-1,3	NBPF10	221	3	1	Substitution - Missense(1)	skin(1)	c.T857C						scavenged	.						11	9	9					1																	145299808		690	1573	2263	SO:0001583	missense	100132406	exon6			CAGAGATGAACAT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.44T>C	1.37:g.145299808T>C	ENSP00000358344:p.Met15Thr	Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	186	13	0.0698925	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	9.355	1.066495	0.20067	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03004	4.08;4.09	1.05	1.05	0.20165	.	.	.	.	.	T	0.01800	0.0057	M	0.61703	1.905	0.09310	N	1	B	0.18863	0.031	B	0.28638	0.092	T	0.42649	-0.9439	9	0.62326	D	0.03	.	4.3442	0.11124	0.0:0.0:0.0:1.0	.	15	Q86T75-2	.	T	211;15;15;286	ENSP00000358344:M15T;ENSP00000345684:M286T	ENSP00000345684:M286T	M	+	2	0	NBPF10	144011165	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-1.183000	0.03079	0.731000	0.32448	0.234000	0.17832	ATG	.	.	none		0.498	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299808	T	C	145299808	3	2	14	1	0	0	0	0	1	0	0	0	10193	1464	51	2	879	2	NBPF10	1	145299808	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	6273	145299808	103950813	13	3340										
ANKRD35	148741	hgsc.bcm.edu	37	chr1	145561400	145561400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aaagcaaggctctagtctccGgcctggaggggatggcatgg	16	9	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:145561400G>A	ENST00000355594.4	+	10	1175	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	363										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTAGTCTCCGGCCTGGAGGG	0.567																																					p.R363Q	Melanoma(9;127 754 22988 51047)	Atlas-SNP	.											ANKRD35,NS,carcinoma,+1,1	ANKRD35	96	1	0			c.G1088A						scavenged	.						35	36	35					1																	145561400		2203	4300	6503	SO:0001583	missense	148741	exon10			GTCTCCGGCCTGG	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1088G>A	1.37:g.145561400G>A	ENSP00000347802:p.Arg363Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	155	2	0.0129032	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789105	0.49997	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.78003	-1.14	6.07	5.16	0.70880	.	0.142348	0.32258	N	0.006342	T	0.55689	0.1936	M	0.70595	2.14	0.80722	D	1	B	0.30193	0.272	B	0.20955	0.032	T	0.58423	-0.7639	10	0.08381	T	0.77	-26.0565	11.2527	0.49034	0.0835:0.0:0.9165:0.0	.	363	Q8N283	ANR35_HUMAN	Q	272;363	ENSP00000347802:R363Q	ENSP00000347802:R363Q	R	+	2	0	ANKRD35	144272757	0.938000	0.31826	0.943000	0.38184	0.658000	0.38924	1.945000	0.40273	1.571000	0.49722	0.655000	0.94253	CGG	.	.	none		0.567	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145561400	G	A	145561400	3	1	14	1	0	0	0	0	1	0	0	0	664	1116	39	1	1126	1	ANKRD35	1	145561400	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	261592	145561400	103689221	14	3341										
HORMAD1	84072	hgsc.bcm.edu	37	chr1	150680879	150680879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctagattcgttgctttggtTtttactagaagagaatcaca	9	6	1	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:150680879T>C	ENST00000361824.2	-	9	505	c.400A>G	c.(400-402)Aac>Gac	p.N134D	HORMAD1_ENST00000322343.7_Missense_Mutation_p.N127D|HORMAD1_ENST00000368995.4_Missense_Mutation_p.N54D|HORMAD1_ENST00000368993.2_Missense_Mutation_p.N134D	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	134	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCTTTGGTTTTTACTAGAA	0.308																																					p.N134D		Atlas-SNP	.											HORMAD1,colon,carcinoma,+1,5	HORMAD1	59	5	0			c.A400G						scavenged	.						85	80	82					1																	150680879		2203	4300	6503	SO:0001583	missense	84072	exon9			TTTGGTTTTTACT	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.400A>G	1.37:g.150680879T>C	ENSP00000355167:p.Asn134Asp	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_032132	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197900	0.58126	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.48836	0.8;1.3;1.37;1.3	5.75	4.64	0.57946	DNA-binding HORMA (4);	0.133205	0.64402	D	0.000002	T	0.26593	0.0650	L	0.41573	1.285	0.44995	D	0.998016	B;B;B	0.30870	0.298;0.193;0.287	B;B;B	0.39152	0.062;0.076;0.292	T	0.09250	-1.0683	10	0.22109	T	0.4	-15.5299	10.1818	0.42972	0.0:0.0782:0.0:0.9218	.	54;127;134	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	D	54;134;63;54;127;134;63;56	ENSP00000357991:N54D;ENSP00000357989:N134D;ENSP00000326489:N127D;ENSP00000355167:N134D	ENSP00000326489:N127D	N	-	1	0	HORMAD1	148947503	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.143000	0.58051	2.195000	0.70347	0.533000	0.62120	AAC	.	.	none		0.308	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		C	150680879	T	C	150680879	3	2	14	1	0	0	0	0	1	0	0	0	7286	1841	64	2	812	2	HORMAD1	1	150680879	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	5119479	150680879	98569742	15	3342										
TCHH	7062	hgsc.bcm.edu	37	chr1	152081138	152081138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgcagctgctgttcctcctCgaggaattttctctctggtt	10	11	2	0	rs189687085	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:152081138C>T	ENST00000368804.1	-	2	4554	c.4555G>A	c.(4555-4557)Gag>Aag	p.E1519K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1519	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1519Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCCTCGAGGAATTTT	0.587													-|||	4	0.000798722	0.003	0.0	5008	,	,		18571	0.0		0.0	False		,,,				2504	0.0				p.E1519K		Atlas-SNP	.											TCHH,NS,carcinoma,0,1	TCHH	275	1	1	Substitution - Missense(1)	lung(1)	c.G4555A						scavenged	.	C	LYS/GLU	4,3766		0,4,1881	53	55	54		4555	0.1	0	1		54	0,8228		0,0,4114	yes	missense	TCHH	NM_007113.2	56	0,4,5995	TT,TC,CC		0.0,0.1061,0.0333	possibly-damaging	1519/1944	152081138	4,11994	1885	4114	5999	SO:0001583	missense	7062	exon3			CCTCCTCGAGGAA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4555G>A	1.37:g.152081138C>T	ENSP00000357794:p.Glu1519Lys	Somatic	155	2	0.0129032		WXS	Illumina HiSeq	Phase_I	255	4	0.0156863	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	4.431	0.079727	0.08533	0.001061	0.0	ENSG00000159450	ENST00000368804	T	0.04603	3.59	0.113	0.113	0.14631	.	.	.	.	.	T	0.01905	0.0060	M	0.66939	2.045	0.09310	N	1	P	0.44090	0.826	B	0.39617	0.305	T	0.44832	-0.9302	8	0.27082	T	0.32	.	.	.	.	.	1519	Q07283	TRHY_HUMAN	K	1519	ENSP00000357794:E1519K	ENSP00000357794:E1519K	E	-	1	0	TCHH	150347762	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.405000	0.07196	0.183000	0.20059	0.186000	0.17326	GAG	C|1.000;T|0.000	0.000	strong		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081138	C	T	152081138	3	4	14	1	0	0	0	0	1	0	0	0	15697	893	31	1	1280	1	TCHH	1	152081138	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1400259	152081138	97169483	16	3343										
HRNR	388697	hgsc.bcm.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	11	10	1	6	rs145667921		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																					p.V1753A		Atlas-SNP	.											HRNR,NS,carcinoma,0,1	HRNR	403	1	0			c.T5258C						scavenged	.						1	1	1					1																	152188847		388	960	1348	SO:0001583	missense	388697	exon3			CCAAAGACAGAAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala	Somatic	518	47	0.0907336		WXS	Illumina HiSeq	Phase_I	726	52	0.0716253	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	.	.	weak		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152188847	A	G	152188847	3	3	14	1	0	0	0	0	1	0	0	0	7359	275	10	2	3298	2	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	107709	152188847	97061774	17	3344										
FLG	2312	hgsc.bcm.edu	37	chr1	152280691	152280691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atgattgtccctggcccaccAgtgagtgtctagagctgtcg	12	11	1	3	rs117945779	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:152280691A>T	ENST00000368799.1	-	3	6706	c.6671T>A	c.(6670-6672)cTg>cAg	p.L2224Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCCACCAGTGAGTGTCT	0.542									Ichthyosis				-|||	959	0.191494	0.1936	0.1873	5008	,	,		22319	0.3026		0.0706	False		,,,				2504	0.2014				p.L2224Q		Atlas-SNP	.											FLG,NS,malignant_melanoma,+1,1	FLG	900	1	0			c.T6671A						scavenged	.						260	255	257					1																	152280691		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCACCAGTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6671T>A	1.37:g.152280691A>T	ENSP00000357789:p.Leu2224Gln	Somatic	328	33	0.10061		WXS	Illumina HiSeq	Phase_I	591	70	0.118443	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	2.028	-0.423196	0.04734	.	.	ENSG00000143631	ENST00000368799	T	0.02656	4.21	0.883	-0.332	0.12675	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.08381	T	0.77	.	1.4068	0.02283	0.3248:0.2503:0.0:0.4249	.	2224	P20930	FILA_HUMAN	Q	2224	ENSP00000357789:L2224Q	ENSP00000357789:L2224Q	L	-	2	0	FLG	150547315	0.313000	0.24554	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-0.732000	0.04856	-0.721000	0.03606	CTG	.	.	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280691	A	T	152280691	3	4	14	1	0	0	0	0	1	0	0	0	5922	188	7	5	5518	5	FLG	1	152280691	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	91844	152280691	96969930	18	3345										
LCE1E	353135	hgsc.bcm.edu	37	chr1	152759850	152759850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aagtgccctcccaagtgtccCacccccaaatgccctccaaa	5	19	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:152759850C>T	ENST00000368770.3	+	2	128	c.75C>T	c.(73-75)ccC>ccT	p.P25P	LCE1E_ENST00000368771.1_Silent_p.P25P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	25	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccaagtgTCCCACCCCCAAAT	0.627																																					p.P25P		Atlas-SNP	.											LCE1E,NS,carcinoma,+2,1	LCE1E	26	1	0			c.C75T						scavenged	.						96	99	98					1																	152759850		2203	4300	6503	SO:0001819	synonymous_variant	353135	exon2			GTGTCCCACCCCC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.75C>T	1.37:g.152759850C>T		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	253	3	0.0118577	NM_178353	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			.	.	none		0.627	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		T	152759850	C	T	152759850	2	4	14	1	0	0	0	0	0	0	0	1	8663	581	21	2		2	LCE1E	1	152759850	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	479159	152759850	96490771	19	3346										
S100A6	6277	hgsc.bcm.edu	37	chr1	153507187	153507187	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tattttcagcccttgagggcTtcattgtagatcaaagccaa	8	9	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:153507187T>C	ENST00000368720.2	-	4	560	c.258A>G	c.(256-258)gaA>gaG	p.E86E	S100A6_ENST00000368719.4_Silent_p.E86E|BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_Silent_p.E86E			P06703	S10A6_HUMAN	S100 calcium binding protein A6	86					axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAGGGCTTCATTGTAGA	0.478																																					p.E86E		Atlas-SNP	.											.	S100A6	8	.	0			c.A258G						PASS	.						69	69	69					1																	153507187		2203	4300	6503	SO:0001819	synonymous_variant	6277	exon3			GAGGGCTTCATTG	BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"S100 calcium binding proteins", "EF-hand domain containing"	10496	protein-coding gene	gene with protein product		114110	"S100 calcium-binding protein A6 (calcyclin)", "S100 calcium binding protein A6 (calcyclin)"	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.258A>G	1.37:g.153507187T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_014624	D3DV39|Q5RHS4	Silent	SNP	ENST00000368720.2	37	CCDS1040.1																																																																																			.	.	none		0.478	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		C	153507187	T	C	153507187	2	2	14	1	0	0	0	0	0	0	0	1	13782	1606	56	3		3	S100A6	1	153507187	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	747337	153507187	95743434	20	3347										
ADAR	103	hgsc.bcm.edu	37	chr1	154574477	154574477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gggctccttggctatgaccgTctggtcttaccactccgctg	11	14	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:154574477T>C	ENST00000368474.4	-	2	840	c.641A>G	c.(640-642)gAc>gGc	p.D214G	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.D257G|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	214					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCTATGACCGTCTGGTCTTAC	0.517																																					p.D214G		Atlas-SNP	.											ADAR,colon,carcinoma,-1,1	ADAR	113	1	0			c.A641G						scavenged	.						94	99	97					1																	154574477		2203	4300	6503	SO:0001583	missense	103	exon2			TGACCGTCTGGTC	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.641A>G	1.37:g.154574477T>C	ENSP00000357459:p.Asp214Gly	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	282	5	0.0177305	NM_015840	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	8.950	0.968007	0.18659	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.13901	2.55;2.56;2.58	2.54	1.37	0.22104	.	1.816150	0.03411	N	0.204721	T	0.03178	0.0093	L	0.43923	1.385	0.09310	N	1	B;B;B	0.26672	0.001;0.001;0.156	B;B;B	0.26770	0.004;0.004;0.073	T	0.37220	-0.9715	10	0.11182	T	0.66	-6.1474	4.3941	0.11355	0.0:0.1664:0.0:0.8336	.	214;214;214	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	G	257;214;209	ENSP00000292205:D257G;ENSP00000357459:D214G;ENSP00000431794:D209G	ENSP00000292205:D257G	D	-	2	0	ADAR	152841101	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.114000	0.10757	0.376000	0.24707	0.260000	0.18958	GAC	.	.	none		0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		C	154574477	T	C	154574477	3	2	14	1	0	0	0	0	1	0	0	0	281	1667	58	2	3095	2	ADAR	1	154574477	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	1067290	154574477	94676144	21	3348										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	21	2	0.0952381		WXS	Illumina HiSeq	Phase_I	49	30	0.612245	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	14	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	267766	154842243	94408378	22	3349	60	3								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	21	2	0.0952381		WXS	Illumina HiSeq	Phase_I	50	30	0.6	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	14	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	1	154842244	94408377	23	3350	60	3								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842250	154842250	+	Missense_Mutation	SNP	G	G	T													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctgctgctgctgaagctgcGgaggctgaggctgcagcgag							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:154842250G>T	ENST00000271915.4	-	1	506	c.191C>A	c.(190-192)cCg>cAg	p.P64Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	64	Gln-rich.|Pro-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgaagctgcggaggctgagg	0.697																																					p.P64Q		Atlas-SNP	.											KCNN3,colon,carcinoma,0,1	KCNN3	141	1	0			c.C191A						PASS	.						5	4	5					1																	154842250		1971	3893	5864	SO:0001583	missense	3782	exon1			AGCTGCGGAGGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.191C>A	1.37:g.154842250G>T	ENSP00000271915:p.Pro64Gln	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	26	5	0.192308	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	g	0.383	-0.927562	0.02377	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.56776	0.44	4.41	3.47	0.39725	.	4.657150	0.00567	N	0.000284	T	0.17916	0.0430	N	0.03608	-0.345	0.80722	D	1	.	.	.	.	.	.	T	0.04115	-1.0976	8	0.27082	T	0.32	-7.4946	9.6132	0.39676	0.0:0.0:0.7634:0.2366	.	.	.	.	Q	64;159	ENSP00000271915:P64Q	ENSP00000271915:P64Q	P	-	2	0	KCNN3	153108874	0.000000	0.05858	0.998000	0.56505	0.997000	0.91878	0.235000	0.17948	1.372000	0.46190	0.563000	0.77884	CCG	.	.	none		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842250	G	T	154842250	3	4	14	1	0	0	0	0	1	0	0	0	8080	1116	39	4	2058	4	KCNN3	1	154842250	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6	154842250	94408371	24	3351	60	3								
KIRREL	55243	hgsc.bcm.edu	37	chr1	158064854	158064854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccactcgattctcctacaccTcccagcactcggactacggc	6	19	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:158064854T>C	ENST00000359209.6	+	15	2285	c.2218T>C	c.(2218-2220)Tcc>Ccc	p.S740P	KIRREL_ENST00000360089.4_Missense_Mutation_p.S576P|KIRREL_ENST00000416935.2_Missense_Mutation_p.S640P|KIRREL_ENST00000392272.2_Missense_Mutation_p.S637P|KIRREL_ENST00000368172.1_Missense_Mutation_p.S554P|KIRREL_ENST00000368173.3_Missense_Mutation_p.S756P			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	740					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTCCTACACCTCCCAGCACTC	0.647																																					p.S740P		Atlas-SNP	.											KIRREL_ENST00000368173,NS,carcinoma,-2,3	KIRREL	346	3	0			c.T2218C						scavenged	.						45	40	42					1																	158064854		2203	4300	6503	SO:0001583	missense	55243	exon15			TACACCTCCCAGC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2218T>C	1.37:g.158064854T>C	ENSP00000352138:p.Ser740Pro	Somatic	81	3	0.037037		WXS	Illumina HiSeq	Phase_I	100	6	0.06	NM_018240	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186867	0.78789	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.81163	-0.47;-1.46;-0.85;-1.08;-1.01;-0.66	5.0	3.88	0.44766	.	0.000000	0.42682	D	0.000663	T	0.73830	0.3637	L	0.27053	0.805	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.999;0.994;0.998	D;D;P;P	0.63488	0.915;0.915;0.796;0.796	T	0.78463	-0.2194	10	0.87932	D	0	-30.8918	8.1799	0.31305	0.0:0.095:0.0:0.905	.	640;576;554;740	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	P	576;756;637;740;640;554	ENSP00000353202:S576P;ENSP00000357155:S756P;ENSP00000376098:S637P;ENSP00000352138:S740P;ENSP00000389674:S640P;ENSP00000357154:S554P	ENSP00000352138:S740P	S	+	1	0	KIRREL	156331478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.229000	0.78088	1.881000	0.54492	0.459000	0.35465	TCC	.	.	none		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		C	158064854	T	C	158064854	3	2	14	1	0	0	0	0	1	0	0	0	8324	1551	54	3	2276	3	KIRREL	1	158064854	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	3222604	158064854	91185767	25	3352										
NUF2	83540	hgsc.bcm.edu	37	chr1	163315530	163315530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gactgcctgccttcatgtcaGttggaagtgcagttatatca	10	9	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:163315530G>A	ENST00000271452.3	+	11	1149	c.870G>A	c.(868-870)caG>caA	p.Q290Q	NUF2_ENST00000367900.3_Silent_p.Q290Q|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	290	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358																																					p.Q290Q		Atlas-SNP	.											NUF2_ENST00000271452,mucosal,malignant_melanoma,+2,2	NUF2	138	2	0			c.G870A						scavenged	.						102	101	102					1																	163315530		2203	4300	6503	SO:0001819	synonymous_variant	83540	exon11			ATGTCAGTTGGAA	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.870G>A	1.37:g.163315530G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	140	4	0.0285714	NM_145697	Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	CCDS1245.1																																																																																			.	.	none		0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		A	163315530	G	A	163315530	2	1	14	1	0	0	0	0	0	0	0	1	10747	1020	36	2		2	NUF2	1	163315530	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	5250676	163315530	85935091	26	3353										
C1orf112	55732	hgsc.bcm.edu	37	chr1	169775212	169775212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	catgcatttcatgccaatacTtggaagtttataattaagta	6	6	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:169775212T>C	ENST00000286031.6	+	7	1246	c.546T>C	c.(544-546)acT>acC	p.T182T	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Silent_p.T153T|C1orf112_ENST00000456684.1_Silent_p.T240T|C1orf112_ENST00000359326.4_Silent_p.T182T	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	182										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCCAATACTTGGAAGTTTA	0.279																																					p.T182T		Atlas-SNP	.											C1orf112,NS,carcinoma,+1,1	C1orf112	74	1	0			c.T546C						scavenged	.						89	83	85					1																	169775212		2203	4294	6497	SO:0001819	synonymous_variant	55732	exon7			CAATACTTGGAAG	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.546T>C	1.37:g.169775212T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	136	4	0.0294118	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	CCDS1285.1																																																																																			.	.	none		0.279	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		C	169775212	T	C	169775212	2	2	14	1	0	0	0	0	0	0	0	1	1985	1596	56	3		3	C1orf112	1	169775212	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	6459682	169775212	79475409	27	3354										
GORAB	92344	hgsc.bcm.edu	37	chr1	170508593	170508593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttggtgatggacaaccacagGgcattgaaagtcagccaaag	12	8	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:170508593G>A	ENST00000367763.3	+	2	399	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	GORAB_ENST00000367762.1_Missense_Mutation_p.G127S|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	127						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACAACCACAGGGCATTGAAAG	0.453																																					p.G127S		Atlas-SNP	.											GORAB,NS,carcinoma,0,1	GORAB	41	1	0			c.G379A						scavenged	.						94	93	93					1																	170508593		2203	4300	6503	SO:0001583	missense	92344	exon2			CCACAGGGCATTG	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.379G>A	1.37:g.170508593G>A	ENSP00000356737:p.Gly127Ser	Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_152281	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	G	4.148	0.025892	0.08054	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.62639	0.01;0.01	5.21	-0.74	0.11115	.	1.308880	0.04522	N	0.384690	T	0.29093	0.0723	L	0.50333	1.59	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.07290	-1.0780	10	0.30078	T	0.28	-14.3446	3.1647	0.06531	0.2658:0.1187:0.4949:0.1206	.	127	Q5T7V8	GORAB_HUMAN	S	127	ENSP00000356737:G127S;ENSP00000356736:G127S	ENSP00000356736:G127S	G	+	1	0	GORAB	168775217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.450000	0.21762	-0.028000	0.13850	-0.237000	0.12165	GGC	.	.	none		0.453	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		A	170508593	G	A	170508593	3	1	14	1	0	0	0	0	1	0	0	0	6574	1232	43	2	385	2	GORAB	1	170508593	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	733381	170508593	78742028	28	3355										
ZNF648	127665	hgsc.bcm.edu	37	chr1	182025500	182025500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgccgtgcttggctcggtgtCgttggaggtgattggacctg	17	8	0	1	rs559054881		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:182025500C>T	ENST00000339948.3	-	2	1853	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCTCGGTGTCGTTGGAGGTG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19654	0.0		0.001	False		,,,				2504	0.0				p.R549Q	NSCLC(71;908 1374 5429 20458 35642)	Atlas-SNP	.											ZNF648,colon,carcinoma,-1,1	ZNF648	111	1	0			c.G1646A						scavenged	.						195	157	170					1																	182025500		2203	4300	6503	SO:0001583	missense	127665	exon2			CGGTGTCGTTGGA	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1646G>A	1.37:g.182025500C>T	ENSP00000344129:p.Arg549Gln	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	277	4	0.0144404	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167419	0.21621	.	.	ENSG00000179930	ENST00000339948	T	0.36157	1.27	2.63	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	L	0.33753	1.03	0.09310	N	1	B	0.18968	0.032	B	0.13407	0.009	T	0.18555	-1.0333	9	0.12766	T	0.61	.	6.8993	0.24273	0.2745:0.7255:0.0:0.0	.	549	Q5T619	ZN648_HUMAN	Q	549	ENSP00000344129:R549Q	ENSP00000344129:R549Q	R	-	2	0	ZNF648	180292123	0.000000	0.05858	0.208000	0.23602	0.823000	0.46562	-0.144000	0.10280	1.793000	0.52555	0.655000	0.94253	CGA	.	.	none		0.587	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		T	182025500	C	T	182025500	3	4	14	1	0	0	0	0	1	0	0	0	18060	884	31	1	64	1	ZNF648	1	182025500	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	11516907	182025500	67225121	29	3356										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186039814	186039814	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aaagaagtgaagatcaaagtAaacaacactctgaccttgga	8	7	2	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:186039814A>G	ENST00000271588.4	+	52	8293	c.8064A>G	c.(8062-8064)gtA>gtG	p.V2688V	HMCN1_ENST00000367492.2_Silent_p.V2688V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2688	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATCAAAGTAAACAACACTC	0.428																																					p.V2688V		Atlas-SNP	.											HMCN1,NS,carcinoma,+2,1	HMCN1	797	1	0			c.A8064G						scavenged	.						126	122	123					1																	186039814		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon52			CAAAGTAAACAAC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8064A>G	1.37:g.186039814A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	193	2	0.0103627	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.	.	none		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186039814	A	G	186039814	2	3	14	1	0	0	0	0	0	0	0	1	7220	349	13	2		2	HMCN1	1	186039814	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	4014314	186039814	63210807	30	3357										
SNRPE	6635	hgsc.bcm.edu	37	chr1	203831348	203831348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcatcttcagatacttacaaAatgtacgtaagttgcttgtt	6	7	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:203831348A>G	ENST00000414487.2	+	2	124	c.79A>G	c.(79-81)Aat>Gat	p.N27D	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'Flank	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	27					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATACTTACAAAATGTACGTAA	0.378																																					p.N27D	Ovarian(83;324 1318 17952 32395 39614)	Atlas-SNP	.											SNRPE,NS,carcinoma,0,2	SNRPE	8	2	0			c.A79G						scavenged	.						138	126	130					1																	203831348		2203	4300	6503	SO:0001583	missense	6635	exon2			TTACAAAATGTAC	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.79A>G	1.37:g.203831348A>G	ENSP00000400591:p.Asn27Asp	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	214	3	0.0140187	NM_003094	B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654891	0.88056	.	.	ENSG00000182004	ENST00000414487	T	0.39406	1.08	5.25	5.25	0.73442	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	.	.	.	0.80722	D	1	P	0.45634	0.863	P	0.46685	0.524	T	0.45469	-0.9259	9	0.46703	T	0.11	.	15.103	0.72296	1.0:0.0:0.0:0.0	.	27	P62304	RUXE_HUMAN	D	27	ENSP00000400591:N27D	ENSP00000400591:N27D	N	+	1	0	SNRPE	202097971	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.260000	0.78391	2.109000	0.64355	0.402000	0.26972	AAT	.	.	none		0.378	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		G	203831348	A	G	203831348	3	3	14	1	0	0	0	0	1	0	0	0	14867	14	1	2	85	2	SNRPE	1	203831348	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	17791534	203831348	45419273	31	3358										
SRGAP2	23380	hgsc.bcm.edu	37	chr1	206566075	206566075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acatatcacatgtacaatgcCgacagcatcagtgctcagag	8	11	3	1	rs561152664		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:206566075C>T	ENST00000414007.1	+	2	96	c.96C>T	c.(94-96)gcC>gcT	p.A32A	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	172	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGTACAATGCCGACAGCATCA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		29744	0.0		0.0	False		,,,				2504	0.001				p.A19A		Atlas-SNP	.											SRGAP2_ENST00000414007,NS,carcinoma,0,1	.	.	1	0			c.C57T						scavenged	.						38	35	36					1																	206566075		2049	4196	6245	SO:0001819	synonymous_variant	100996712	exon2			CAATGCCGACAGC	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.96C>T	1.37:g.206566075C>T		Somatic	404	2	0.00495049		WXS	Illumina HiSeq	Phase_I	681	8	0.0117474	NM_001271887		Silent	SNP	ENST00000414007.1	37		.	.	.	.	.	.	.	.	.	.	C	10.62	1.401829	0.25291	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.36	-3.3	0.05003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4693	0.27340	0.0:0.2798:0.198:0.5222	.	.	.	.	X	86	.	.	R	+	1	2	SRGAP2	204632698	0.030000	0.19436	0.994000	0.49952	0.996000	0.88848	-1.108000	0.03313	-0.241000	0.09681	0.455000	0.32223	CGA	.	.	none		0.527	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		T	206566075	C	T	206566075	2	4	14	1	0	0	0	0	0	0	0	1	15145	639	23	1		1	SRGAP2	1	206566075	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	2734727	206566075	42684546	32	3359										
BPNT1	10380	hgsc.bcm.edu	37	chr1	220232323	220232323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aagaacattcccatggatatCggttaacttgcctatagaaa	7	8	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:220232323C>A	ENST00000469520.2	-	10	1239	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	BPNT1_ENST00000354807.3_Missense_Mutation_p.D279Y|BPNT1_ENST00000322067.7_Missense_Mutation_p.D264Y|BPNT1_ENST00000544404.1_Missense_Mutation_p.D209Y|BPNT1_ENST00000414869.2_Missense_Mutation_p.D228Y			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	264					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.D264N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CCATGGATATCGGTTAACTTG	0.393																																					p.D264Y		Atlas-SNP	.											BPNT1,colon,carcinoma,0,1	BPNT1	29	1	1	Substitution - Missense(1)	large_intestine(1)	c.G790T						scavenged	.						136	125	129					1																	220232323		1907	4140	6047	SO:0001583	missense	10380	exon9			GGATATCGGTTAA	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.790G>T	1.37:g.220232323C>A	ENSP00000446828:p.Asp264Tyr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	147	3	0.0204082	NM_006085	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600002	0.87055	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.28	5.28	0.74379	.	0.094465	0.64402	D	0.000001	D	0.84474	0.5480	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89300	0.3625	10	0.87932	D	0	.	19.28	0.94050	0.0:1.0:0.0:0.0	.	228;279;264	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	Y	264;264;279;264;209;228	ENSP00000318852:D264Y;ENSP00000446828:D264Y;ENSP00000346862:D279Y;ENSP00000444398:D209Y;ENSP00000410348:D228Y	ENSP00000307087:D264Y	D	-	1	0	BPNT1	218298946	1.000000	0.71417	0.937000	0.37676	0.924000	0.55760	7.682000	0.84083	2.643000	0.89663	0.555000	0.69702	GAT	.	.	none		0.393	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		A	220232323	C	A	220232323	3	1	14	1	0	0	0	0	1	0	0	0	1494	884	31	4	140	4	BPNT1	1	220232323	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	13666248	220232323	29018298	33	3360										
RYR2	6262	hgsc.bcm.edu	37	chr1	237944873	237944873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcatattttcaggattccagTcaaattgagctattaaaaga	6	6	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr1:237944873T>C	ENST00000366574.2	+	89	12206	c.11889T>C	c.(11887-11889)agT>agC	p.S3963S	RYR2_ENST00000542537.1_Silent_p.S3947S|RYR2_ENST00000360064.6_Silent_p.S3969S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3963					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGATTCCAGTCAAATTGAGC	0.343																																					p.S3963S		Atlas-SNP	.											RYR2,NS,carcinoma,+1,1	RYR2	1273	1	0			c.T11889C						scavenged	.						92	91	91					1																	237944873		1897	4158	6055	SO:0001819	synonymous_variant	6262	exon89			TTCCAGTCAAATT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11889T>C	1.37:g.237944873T>C		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.	.	none		0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237944873	T	C	237944873	2	2	14	1	0	0	0	0	0	0	0	1	13769	1664	58	2		2	RYR2	1	237944873	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	17712550	237944873	11305748	34	3361										
LPIN1	23175	hgsc.bcm.edu	37	chr2	11944623	11944623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagtaccaaggcacgtgccgCtgtgagggcaccatctatct	11	13	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:11944623C>T	ENST00000256720.2	+	15	2073	c.1980C>T	c.(1978-1980)cgC>cgT	p.R660R	LPIN1_ENST00000396097.1_Silent_p.R390R|LPIN1_ENST00000404113.2_Silent_p.R161R|LPIN1_ENST00000449576.2_Silent_p.R745R|LPIN1_ENST00000396099.1_Silent_p.R702R|LPIN1_ENST00000425416.2_Silent_p.R666R	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	660	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCACGTGCCGCTGTGAGGGCA	0.468																																					p.R745R		Atlas-SNP	.											LPIN1,caecum,carcinoma,+2,1	LPIN1	99	1	0			c.C2235T						scavenged	.						120	105	110					2																	11944623		2203	4300	6503	SO:0001819	synonymous_variant	23175	exon17			GTGCCGCTGTGAG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1980C>T	2.37:g.11944623C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	3	0.0252101	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																			.	.	none		0.468	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11944623	C	T	11944623	2	4	14	1	0	0	0	0	0	0	0	1	8918	784	28	2		2	LPIN1	2	11944623	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10		11944623	231254750	35	3362										
KCNS3	3790	hgsc.bcm.edu	37	chr2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgtgcattgcctggttcaccGgggagcttgccgtccggctg	15	13	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:18112978G>A	ENST00000403915.1	+	3	1154	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517																																					p.G235R		Atlas-SNP	.											KCNS3,caecum,carcinoma,-1,2	KCNS3	85	2	0			c.G703A						scavenged	.						87	86	86					2																	18112978		2203	4300	6503	SO:0001583	missense	3790	exon3			TTCACCGGGGAGC	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.703G>A	2.37:g.18112978G>A	ENSP00000385968:p.Gly235Arg	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	167	2	0.011976	NM_002252	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220989	0.22457	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98437	-4.93;-4.93	6.07	4.28	0.50868	Ion transport (1);	0.484707	0.23690	N	0.045530	D	0.95551	0.8554	L	0.43923	1.385	0.09310	N	1	P	0.38167	0.621	B	0.37833	0.259	D	0.91363	0.5113	10	0.66056	D	0.02	.	6.4072	0.21670	0.1353:0.0:0.6137:0.251	.	235	Q9BQ31	KCNS3_HUMAN	R	235	ENSP00000385968:G235R;ENSP00000305824:G235R	ENSP00000305824:G235R	G	+	1	0	KCNS3	17976459	0.013000	0.17824	0.318000	0.25279	0.979000	0.70002	1.050000	0.30404	0.894000	0.36317	0.655000	0.94253	GGG	.	.	none		0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		A	18112978	G	A	18112978	3	1	14	1	0	0	0	0	1	0	0	0	8090	1116	39	1	705	1	KCNS3	2	18112978	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6168355	18112978	225086395	36	3363										
C2orf53	339779	hgsc.bcm.edu	37	chr2	27360666	27360666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agtgtccctgtactgatgccAgcgccatgtctgcctgttag	11	12	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:27360666A>G	ENST00000335524.3	-	3	1057	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		178										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGATGCCAGCGCCATGTC	0.627																																					p.W178R		Atlas-SNP	.											.	C2orf53	45	.	0			c.T532C						PASS	.						53	55	54					2																	27360666		2203	4300	6503	SO:0001583	missense	339779	exon3			GATGCCAGCGCCA																												ENST00000335524.3:c.532T>C	2.37:g.27360666A>G	ENSP00000335017:p.Trp178Arg	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	96	7	0.0729167	NM_178553	Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	CCDS1739.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.32|12.32	1.901753|1.901753	0.33535|0.33535	.|.	.|.	ENSG00000186143|ENSG00000186143	ENST00000432962|ENST00000335524	.|T	.|0.34072	.|1.38	4.56|4.56	0.778|0.778	0.18543|0.18543	.|.	.|0.231694	.|0.22575	.|N	.|0.058287	T|T	0.20700|0.20700	0.0498|0.0498	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.24368	.|0.102	.|B	.|0.23852	.|0.049	T|T	0.13548|0.13548	-1.0505|-1.0505	6|10	0.87932|0.59425	D|D	0|0.04	-2.4502|-2.4502	2.6344|2.6344	0.04954|0.04954	0.5896:0.0:0.2152:0.1952|0.5896:0.0:0.2152:0.1952	.|.	.|178	.|Q53SZ7	.|CB053_HUMAN	P|R	13|178	.|ENSP00000335017:W178R	ENSP00000393468:L13P|ENSP00000335017:W178R	L|W	-|-	2|1	0|0	C2orf53|C2orf53	27214170|27214170	0.075000|0.075000	0.21258|0.21258	0.008000|0.008000	0.14137|0.14137	0.183000|0.183000	0.23260|0.23260	1.140000|1.140000	0.31516|0.31516	0.773000|0.773000	0.33404|0.33404	0.459000|0.459000	0.35465|0.35465	CTG|TGG	.	.	none		0.627	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			G	27360666	A	G	27360666	3	3	14	1	0	0	0	0	1	0	0	0	2174	188	7	3	710	3	C2orf53	2	27360666	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	9247688	27360666	215838707	37	3364										
VIT	5212	hgsc.bcm.edu	37	chr2	36970315	36970315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttcattgtgaaatgtccagCaggatgccaagaccccaaat	9	10	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:36970315C>A	ENST00000389975.3	+	4	493	c.191C>A	c.(190-192)gCa>gAa	p.A64E	VIT_ENST00000401530.1_Missense_Mutation_p.A64E|VIT_ENST00000404084.1_Missense_Mutation_p.A42E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.A64E|VIT_ENST00000457137.2_Missense_Mutation_p.A64E|VIT_ENST00000379242.3_Missense_Mutation_p.A64E	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	64	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAATGTCCAGCAGGATGCCAA	0.483																																					p.A64E		Atlas-SNP	.											.	VIT	138	.	0			c.C191A						PASS	.						173	142	152					2																	36970315		2203	4300	6503	SO:0001583	missense	5212	exon4			GTCCAGCAGGATG	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.191C>A	2.37:g.36970315C>A	ENSP00000374625:p.Ala64Glu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721566	0.89298	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	4.77	4.77	0.60923	LCCL (5);	0.124941	0.52532	D	0.000062	D	0.93598	0.7956	M	0.75777	2.31	0.47584	D	0.999461	D;D;D;D;D;D	0.71674	0.998;0.998;0.994;0.996;0.995;0.997	D;P;P;D;P;P	0.65773	0.932;0.903;0.897;0.938;0.888;0.888	D	0.94337	0.7567	10	0.72032	D	0.01	-8.2082	16.3687	0.83346	0.0:1.0:0.0:0.0	.	64;64;64;64;64;64	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	E	64;64;64;64;42;64;64	ENSP00000368544:A64E;ENSP00000374625:A64E;ENSP00000393561:A64E;ENSP00000384154:A42E;ENSP00000368543:A64E;ENSP00000385658:A64E	ENSP00000368543:A64E	A	+	2	0	VIT	36823819	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	5.496000	0.66918	2.358000	0.79984	0.650000	0.86243	GCA	.	.	none		0.483	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				A	36970315	C	A	36970315	3	1	14	1	0	0	0	0	1	0	0	0	17168	710	25	4	201	4	VIT	2	36970315	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9609649	36970315	206229058	38	3365										
EIF2AK2	5610	hgsc.bcm.edu	37	chr2	37353531	37353531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cacctgagccaattaattctAtttctttaaaatccatgcca	3	11	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:37353531A>G	ENST00000233057.4	-	11	1131	c.809T>C	c.(808-810)aTa>aCa	p.I270T	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.I270T|EIF2AK2_ENST00000405334.1_Intron	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	270	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AATTAATTCTATTTCTTTAAA	0.388																																					p.I270T		Atlas-SNP	.											EIF2AK2,NS,carcinoma,+1,1	EIF2AK2	54	1	0			c.T809C						scavenged	.						72	75	74					2																	37353531		2203	4300	6503	SO:0001583	missense	5610	exon11			AATTCTATTTCTT	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.809T>C	2.37:g.37353531A>G	ENSP00000233057:p.Ile270Thr	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_001135651	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236705	0.58886	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000379156	T;T	0.51574	0.7;0.7	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097380	0.44902	D	0.000403	T	0.62085	0.2399	L	0.49571	1.57	0.50171	D	0.999851	D;D;D	0.69078	0.99;0.997;0.997	D;D;D	0.75484	0.976;0.965;0.986	T	0.65594	-0.6130	10	0.87932	D	0	-21.9987	13.4084	0.60926	1.0:0.0:0.0:0.0	.	270;270;270	Q8IW76;B7ZKK7;P19525	.;.;E2AK2_HUMAN	T	270	ENSP00000233057:I270T;ENSP00000378559:I270T	ENSP00000233057:I270T	I	-	2	0	EIF2AK2	37207035	1.000000	0.71417	0.031000	0.17742	0.025000	0.11179	5.804000	0.69135	1.810000	0.52873	0.514000	0.50259	ATA	.	.	none		0.388	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		G	37353531	A	G	37353531	3	3	14	1	0	0	0	0	1	0	0	0	4997	449	16	2	874	2	EIF2AK2	2	37353531	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	383216	37353531	205845842	39	3366										
CNNM3	26505	hgsc.bcm.edu	37	chr2	97483238	97483238	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcctggaggaattcaagcgAggtaacggcccgggcatggt	16	9	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:97483238A>G	ENST00000305510.3	+	1	1252	c.1224A>G	c.(1222-1224)cgA>cgG	p.R408R	CNNM3_ENST00000377060.3_Splice_Site_p.R408R	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	408	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R408R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AATTCAAGCGAGGTAACGGCC	0.602																																					p.R408R		Atlas-SNP	.											CNNM3,NS,carcinoma,0,1	CNNM3	33	1	1	Substitution - coding silent(1)	kidney(1)	c.A1224G						scavenged	.						103	99	100					2																	97483238		2203	4300	6503	SO:0001630	splice_region_variant	26505	exon1			CAAGCGAGGTAAC	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1225+1A>G	2.37:g.97483238A>G		Somatic	70	1	0.0142857		WXS	Illumina HiSeq	Phase_I	66	3	0.0454545	NM_199078	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	CCDS2025.1																																																																																			.	.	none		0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623	Silent	G	97483238	A	G	97483238	5	3	14	1	0	0	0	0	0	0	1	0	3614	318	11	3	1226	3	CNNM3	2	97483238	Splice_Site	SNP	A	TCGA-FF-8047-01A-11D-2210-10	60129707	97483238	145716135	40	3367										
IL18RAP	8807	hgsc.bcm.edu	37	chr2	103040530	103040530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atcattcaggacaaatgtacCcttcactttttgaccccagg	6	12	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:103040530C>T	ENST00000264260.2	+	4	919	c.330C>T	c.(328-330)acC>acT	p.T110T	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	110					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACAAATGTACCCTTCACTTTT	0.383																																					p.T110T		Atlas-SNP	.											IL18RAP,NS,carcinoma,+1,1	IL18RAP	102	1	0			c.C330T						scavenged	.						84	80	81					2																	103040530		2203	4300	6503	SO:0001819	synonymous_variant	8807	exon4			ATGTACCCTTCAC	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.330C>T	2.37:g.103040530C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	244	4	0.0163934	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	CCDS2061.1																																																																																			.	.	none		0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103040530	C	T	103040530	2	4	14	1	0	0	0	0	0	0	0	1	7648	610	22	2		2	IL18RAP	2	103040530	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5557292	103040530	140158843	41	3368										
GCC2	9648	hgsc.bcm.edu	37	chr2	109088188	109088188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaggaaaaatgcaacctggcTtttcagcgtgatgaaaaagt	11	6	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:109088188T>C	ENST00000309863.6	+	6	3117	c.2403T>C	c.(2401-2403)gcT>gcC	p.A801A		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	801					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GCAACCTGGCTTTTCAGCGTG	0.373																																					p.A801A		Atlas-SNP	.											GCC2,NS,carcinoma,+1,1	GCC2	129	1	0			c.T2403C						scavenged	.						63	66	65					2																	109088188		2203	4298	6501	SO:0001819	synonymous_variant	9648	exon6			CCTGGCTTTTCAG	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2403T>C	2.37:g.109088188T>C		Somatic	308	2	0.00649351		WXS	Illumina HiSeq	Phase_I	380	4	0.0105263	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																			.	.	none		0.373	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		C	109088188	T	C	109088188	2	2	14	1	0	0	0	0	0	0	0	1	6286	1596	56	3		3	GCC2	2	109088188	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	6047658	109088188	134111185	42	3369										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109371659	109371659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccaaaacaccacctcgatggGcagaagatcagaattcttta	7	11	2	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:109371659G>A	ENST00000283195.6	+	17	2536	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	804					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTCGATGGGCAGAAGATCA	0.308																																					p.A804T		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,2	RANBP2	488	2	0			c.G2410A						scavenged	.						140	163	155					2																	109371659		2199	4297	6496	SO:0001583	missense	5903	exon17			CGATGGGCAGAAG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2410G>A	2.37:g.109371659G>A	ENSP00000283195:p.Ala804Thr	Somatic	675	2	0.00296296		WXS	Illumina HiSeq	Phase_I	752	9	0.0119681	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919938	0.92249	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.19105	2.17	5.8	5.8	0.92144	.	.	.	.	.	T	0.34337	0.0894	L	0.34521	1.04	0.49130	D	0.999754	D	0.67145	0.996	P	0.58331	0.837	T	0.01532	-1.1331	9	0.54805	T	0.06	-13.8517	20.0609	0.97674	0.0:0.0:1.0:0.0	.	804	P49792	RBP2_HUMAN	T	804	ENSP00000283195:A804T	ENSP00000283195:A804T	A	+	1	0	RANBP2	108738091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.714000	0.74692	2.737000	0.93849	0.542000	0.68232	GCA	.	.	none		0.308	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109371659	G	A	109371659	3	1	14	1	0	0	0	0	1	0	0	0	13028	1203	42	2	2476	2	RANBP2	2	109371659	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	283471	109371659	133827714	43	3370										
IL1F7	27178	hgsc.bcm.edu	37	chr2	113674819	113674819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttccagataaaaactacataCgcccaggtgactctcagttt	6	11	1	2	rs370690543		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:113674819C>T	ENST00000263326.3	+	3	301	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	IL37_ENST00000352179.3_Missense_Mutation_p.R66C|IL37_ENST00000311328.2_Missense_Mutation_p.R61C|IL37_ENST00000353225.3_Intron|IL37_ENST00000349806.3_Intron	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	87					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAACTACATACGCCCAGGTGA	0.493																																					p.R87C		Atlas-SNP	.											.	IL37	56	.	0			c.C259T						PASS	.		CYS/ARG,CYS/ARG,,,CYS/ARG	0,4406		0,0,2203	139	134	136		259,196,,,181	0	0	2		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron,missense	IL37	NM_014439.3,NM_173202.1,NM_173203.1,NM_173204.1,NM_173205.1	180,180,,,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,,,possibly-damaging	87/219,66/198,,,61/193	113674819	1,13005	2203	4300	6503	SO:0001583	missense	27178	exon3			TACATACGCCCAG	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.259C>T	2.37:g.113674819C>T	ENSP00000263326:p.Arg87Cys	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	127	42	0.330709	NM_014439	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	c	5.381	0.255487	0.10185	0.0	1.16E-4	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000311328	T;T;T	0.58358	0.34;0.34;0.34	2.85	-0.033	0.13902	.	3.274280	0.01053	N	0.004506	T	0.32675	0.0837	N	0.11064	0.09	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.06405	0.002;0.001;0.001	T	0.24048	-1.0171	10	0.56958	D	0.05	0.8511	2.8893	0.05671	0.2145:0.5315:0.0:0.254	.	61;66;87	Q9NZH6-2;Q9NZH6-4;Q9NZH6	.;.;IL37_HUMAN	C	87;66;61	ENSP00000263326:R87C;ENSP00000263327:R66C;ENSP00000309883:R61C	ENSP00000263326:R87C	R	+	1	0	IL37	113391290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.073000	0.00300	-0.016000	0.14127	-0.763000	0.03452	CGC	.	.	weak		0.493	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		T	113674819	C	T	113674819	3	4	14	1	0	0	0	0	1	0	0	0	7655	536	19	1	340	1	IL1F7	2	113674819	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	4303160	113674819	129524554	44	3371										
CLASP1	23332	hgsc.bcm.edu	37	chr2	122135079	122135079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcctagggatacttacaataTcacactcctttttgccatct	5	12	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:122135079T>C	ENST00000263710.4	-	34	4027	c.3638A>G	c.(3637-3639)gAt>gGt	p.D1213G	CLASP1_ENST00000541859.1_Missense_Mutation_p.D930G|CLASP1_ENST00000541377.1_Missense_Mutation_p.D1152G|CLASP1_ENST00000455322.2_Missense_Mutation_p.D1169G|CLASP1_ENST00000409078.3_Missense_Mutation_p.D1146G|CLASP1_ENST00000545861.1_Missense_Mutation_p.D920G|CLASP1_ENST00000397587.3_Missense_Mutation_p.D1153G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1213					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACTTACAATATCACACTCCTT	0.378																																					p.D1213G		Atlas-SNP	.											.	CLASP1	135	.	0			c.A3638G						PASS	.						165	140	148					2																	122135079		1863	4104	5967	SO:0001583	missense	23332	exon33			ACAATATCACACT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3638A>G	2.37:g.122135079T>C	ENSP00000263710:p.Asp1213Gly	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	157	70	0.44586	NM_015282	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	T	17.18	3.323437	0.60634	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.47869	2.17;2.15;2.15;2.14;0.83;2.15	5.74	5.74	0.90152	Armadillo-type fold (1);	0.226336	0.44285	N	0.000463	T	0.41994	0.1183	L	0.39020	1.185	0.80722	D	1	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	0.28073	-1.0055	10	0.87932	D	0	-13.4635	16.0335	0.80603	0.0:0.0:0.0:1.0	.	1146;1153;1154;1213	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	G	1213;1169;1153;1152;930;1146;920	ENSP00000263710:D1213G;ENSP00000389372:D1169G;ENSP00000380717:D1153G;ENSP00000441625:D1152G;ENSP00000441770:D930G;ENSP00000386442:D1146G	ENSP00000263710:D1213G	D	-	2	0	CLASP1	121851549	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	7.578000	0.82498	2.195000	0.70347	0.533000	0.62120	GAT	.	.	none		0.378	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		C	122135079	T	C	122135079	3	2	14	1	0	0	0	0	1	0	0	0	3454	1435	50	2	1006	2	CLASP1	2	122135079	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	8460260	122135079	121064294	45	3372										
NEB	4703	hgsc.bcm.edu	37	chr2	152536281	152536281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggcagctctgatgggaatcGcatcagttctcaggtcatat	11	9	4	1	rs371710158		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:152536281G>A	ENST00000172853.10	-	32	3356	c.3209C>T	c.(3208-3210)gCg>gTg	p.A1070V	NEB_ENST00000397345.3_Missense_Mutation_p.A1070V|NEB_ENST00000427231.2_Missense_Mutation_p.A1070V|NEB_ENST00000409198.1_Missense_Mutation_p.A1070V|NEB_ENST00000604864.1_Missense_Mutation_p.A1070V|NEB_ENST00000603639.1_Missense_Mutation_p.A1070V			P20929	NEBU_HUMAN	nebulin	1070					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A1070V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGGGAATCGCATCAGTTCT	0.468																																					p.A1070V		Atlas-SNP	.											NEB,NS,carcinoma,0,1	NEB	1697	1	2	Substitution - Missense(2)	endometrium(2)	c.C3209T						scavenged	.						102	100	100					2																	152536281		1954	4153	6107	SO:0001583	missense	4703	exon32			GGAATCGCATCAG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3209C>T	2.37:g.152536281G>A	ENSP00000172853:p.Ala1070Val	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	149	60	0.402685	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	35	5.526780	0.96431	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.91406	3.205	0.80722	D	1	P	0.51147	0.942	P	0.46362	0.514	T	0.75566	-0.3273	10	0.87932	D	0	.	18.7041	0.91631	0.0:0.0:1.0:0.0	.	1070	P20929	NEBU_HUMAN	V	1070	ENSP00000386259:A1070V;ENSP00000380505:A1070V;ENSP00000416578:A1070V;ENSP00000172853:A1070V	ENSP00000172853:A1070V	A	-	2	0	NEB	152244527	1.000000	0.71417	0.687000	0.30102	0.982000	0.71751	9.705000	0.98719	2.720000	0.93068	0.650000	0.86243	GCG	.	.	alt		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152536281	G	A	152536281	3	1	14	1	0	0	0	0	1	0	0	0	10302	1087	38	1	23081	1	NEB	2	152536281	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	30401202	152536281	90663092	46	3373										
KCNH7	90134	hgsc.bcm.edu	37	chr2	163241253	163241253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cttcctgaggtgggcactgtTtcttcaaaatcgagcccaga	10	11	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:163241253T>C	ENST00000332142.5	-	13	3006	c.2907A>G	c.(2905-2907)gaA>gaG	p.E969E		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	969					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E969D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGGCACTGTTTCTTCAAAAT	0.438																																					p.E969E	GBM(196;1492 2208 17507 24132 45496)	Atlas-SNP	.											KCNH7,NS,carcinoma,0,2	KCNH7	378	2	1	Substitution - Missense(1)	kidney(1)	c.A2907G						scavenged	.						176	170	172					2																	163241253		2203	4299	6502	SO:0001819	synonymous_variant	90134	exon13			CACTGTTTCTTCA	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2907A>G	2.37:g.163241253T>C		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	245	3	0.0122449	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																			.	.	none		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163241253	T	C	163241253	2	2	14	1	0	0	0	0	0	0	0	1	8037	1838	64	2		2	KCNH7	2	163241253	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	10704972	163241253	79958120	47	3374										
TTN	7273	hgsc.bcm.edu	37	chr2	179398481	179398481	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gatttataccatgttacatgAggctctgggtggacagttat	11	6	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:179398481A>G	ENST00000591111.1	-	308	98162	c.97938T>C	c.(97936-97938)ccT>ccC	p.P32646P	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.P31719P|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000589042.1_Silent_p.P34287P|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Silent_p.P25414P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Silent_p.P25222P|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.P25347P			Q8WZ42	TITIN_HUMAN	titin	32646	Ig-like 144.				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)			ATGTTACATGAGGCTCTGGGT	0.403																																					p.P34287P		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,-1,4	TTN	18412	4	0			c.T102861C						scavenged	.						113	103	106					2																	179398481		1907	4116	6023	SO:0001819	synonymous_variant	7273	exon358			TACATGAGGCTCT	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.97938T>C	2.37:g.179398481A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	136	2	0.0147059	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.	.	none		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179398481	A	G	179398481	2	3	14	1	0	0	0	0	0	0	0	1	16732	291	11	3		3	TTN	2	179398481	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	16157228	179398481	63800892	48	3375										
COL3A1	1281	hgsc.bcm.edu	37	chr2	189864021	189864021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tttgtcacagggtgatgctgGtgcccctggtgaacgtggac	15	9	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:189864021G>A	ENST00000304636.3	+	30	2203	c.2033G>A	c.(2032-2034)gGt>gAt	p.G678D	COL3A1_ENST00000317840.5_Missense_Mutation_p.G678D	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	678	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGTGATGCTGGTGCCCCTGGT	0.498																																					p.G678D		Atlas-SNP	.											.	COL3A1	292	.	0			c.G2033A						PASS	.						40	40	40					2																	189864021		2202	4299	6501	SO:0001583	missense	1281	exon30			ATGCTGGTGCCCC	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2033G>A	2.37:g.189864021G>A	ENSP00000304408:p.Gly678Asp	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	62	35	0.564516	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056475	0.76074	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99619	-6.28;-6.28	4.96	4.96	0.65561	.	0.000000	0.44688	D	0.000428	D	0.99792	0.9912	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96883	0.9647	10	0.87932	D	0	.	18.6093	0.91277	0.0:0.0:1.0:0.0	.	678	P02461	CO3A1_HUMAN	D	678	ENSP00000304408:G678D;ENSP00000315243:G678D	ENSP00000304408:G678D	G	+	2	0	COL3A1	189572266	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.813000	0.99286	2.472000	0.83506	0.650000	0.86243	GGT	.	.	none		0.498	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189864021	G	A	189864021	3	1	14	1	0	0	0	0	1	0	0	0	3688	1261	44	2	2151	2	COL3A1	2	189864021	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	10465540	189864021	53335352	49	3376										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209215527	209215527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctaatgccaagttttactgtCggctctactatgcgggagag	11	9	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:209215527C>T	ENST00000264380.4	+	37	5625	c.5467C>T	c.(5467-5469)Cgg>Tgg	p.R1823W		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1823	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTTTTACTGTCGGCTCTACTA	0.413																																					p.R1823W		Atlas-SNP	.											PIKFYVE,colon,carcinoma,-1,1	PIKFYVE	223	1	0			c.C5467T						scavenged	.						118	118	118					2																	209215527		2203	4300	6503	SO:0001583	missense	200576	exon37			TACTGTCGGCTCT	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5467C>T	2.37:g.209215527C>T	ENSP00000264380:p.Arg1823Trp	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	171	3	0.0175439	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485260	0.84854	.	.	ENSG00000115020	ENST00000264380	T	0.30714	1.52	5.43	5.43	0.79202	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58244	-0.7670	10	0.72032	D	0.01	-13.8009	13.991	0.64367	0.1506:0.8494:0.0:0.0	.	1823	Q9Y2I7	FYV1_HUMAN	W	1823	ENSP00000264380:R1823W	ENSP00000264380:R1823W	R	+	1	2	PIKFYVE	208923772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.926000	0.70070	2.554000	0.86153	0.655000	0.94253	CGG	.	.	none		0.413	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209215527	C	T	209215527	3	4	14	1	0	0	0	0	1	0	0	0	11924	875	31	1	5620	1	PIKFYVE	2	209215527	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	19351506	209215527	33983846	50	3377										
PTH2R	5746	hgsc.bcm.edu	37	chr2	209345848	209345848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttctagctaccaaaatctgGgagaccaatgcagttgggca	11	9	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:209345848G>A	ENST00000272847.2	+	10	1248	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CCAAAATCTGGGAGACCAATG	0.358																																					p.W345X		Atlas-SNP	.											PTH2R,NS,carcinoma,+1,2	PTH2R	92	2	0			c.G1035A						scavenged	.						101	99	99					2																	209345848		2203	4300	6503	SO:0001587	stop_gained	5746	exon10			AATCTGGGAGACC	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1035G>A	2.37:g.209345848G>A	ENSP00000272847:p.Trp345*	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	202	3	0.0148515	NM_005048	Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	38	6.878990	0.97904	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.54	4.67	0.58626	.	0.000000	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.35	0.55143	0.0824:0.0:0.9176:0.0	.	.	.	.	X	345	.	.	W	+	3	0	PTH2R	209054093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.650000	0.46665	1.484000	0.48361	0.650000	0.86243	TGG	.	.	none		0.358	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		A	209345848	G	A	209345848	4	1	14	1	0	0	0	0	0	1	0	0	12760	1241	43	2	1073	2	PTH2R	2	209345848	Nonsense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	130321	209345848	33853525	51	3378										
ARMC9	80210	hgsc.bcm.edu	37	chr2	232099952	232099952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctagaaatcttgcagcagcTccaccagcagctggttgaag	10	12	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:232099952T>C	ENST00000349938.4	+	8	832	c.638T>C	c.(637-639)cTc>cCc	p.L213P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	213						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TTGCAGCAGCTCCACCAGCAG	0.398																																					p.L213P		Atlas-SNP	.											.	ARMC9	129	.	0			c.T638C						PASS	.						57	57	57					2																	232099952		2203	4300	6503	SO:0001583	missense	80210	exon8			AGCAGCTCCACCA	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.638T>C	2.37:g.232099952T>C	ENSP00000258417:p.Leu213Pro	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846960	0.71603	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.19669	2.13	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.46814	0.1412	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.46665	-0.9175	10	0.66056	D	0.02	-21.8479	15.7937	0.78388	0.0:0.0:0.0:1.0	.	213	Q7Z3E5	ARMC9_HUMAN	P	213	ENSP00000258417:L213P	ENSP00000258417:L213P	L	+	2	0	ARMC9	231808196	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.588000	0.67517	2.126000	0.65437	0.533000	0.62120	CTC	.	.	none		0.398	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		C	232099952	T	C	232099952	3	2	14	1	0	0	0	0	1	0	0	0	958	1551	54	3	664	3	ARMC9	2	232099952	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	22754104	232099952	11099421	52	3379										
AQP12B	653437	hgsc.bcm.edu	37	chr2	241621939	241621939	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagcgtgccaggcagagactCctcggccatgaggaactcct	12	14	0	2	rs150288484	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:241621939C>G	ENST00000407834.3	-	1	378	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	94						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCAGAGACTCCTCGGCCATG	0.692													N|||	6	0.00119808	0.003	0.0014	5008	,	,		18955	0.0		0.001	False		,,,				2504	0.0				p.E106Q		Atlas-SNP	.											AQP12B,NS,carcinoma,0,1	AQP12B	33	1	0			c.G316C						scavenged	.		GLN/GLU	23,4383		0,23,2180	42	44	43		316	2.9	0.1	2	dbSNP_134	43	3,8597		0,3,4297	no	missense	AQP12B	NM_001102467.1	29	0,26,6477	GG,GC,CC		0.0349,0.522,0.1999	benign	106/308	241621939	26,12980	2203	4300	6503	SO:0001583	missense	653437	exon1			GAGACTCCTCGGC	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.316G>C	2.37:g.241621939C>G	ENSP00000384894:p.Glu106Gln	Somatic	79	2	0.0253165		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_001102467	A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	9	0.004120879120879121	5	0.01016260162601626	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	.	4.584	0.108510	0.08780	0.00522	3.49E-4	ENSG00000185176	ENST00000407834	T	0.11063	2.81	2.87	2.87	0.33458	.	0.501171	0.21998	N	0.066053	T	0.03608	0.0103	.	.	.	0.18873	N	0.999984	B	0.28470	0.213	B	0.31101	0.124	T	0.41556	-0.9502	9	0.13470	T	0.59	3.0696	7.317	0.26505	0.262:0.738:0.0:0.0	.	106	A6NM10-2	.	Q	106	ENSP00000384894:E106Q	ENSP00000384894:E106Q	E	-	1	0	AQP12B	241270612	0.908000	0.30866	0.136000	0.22124	0.214000	0.24535	1.565000	0.36386	1.903000	0.55091	0.479000	0.44913	GAG	C|0.996;G|0.004	0.004	strong		0.692	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			G	241621939	C	G	241621939	3	3	14	1	0	0	0	0	1	0	0	0	825	864	30	4	619	4	AQP12B	2	241621939	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9521987	241621939	1577434	53	3380										
SNED1	25992	hgsc.bcm.edu	37	chr2	241992639	241992639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caacggcacgcggctgggcgCggtggccctgtatgcatgtg	17	12	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr2:241992639C>T	ENST00000310397.8	+	16	2153	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.A718V|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.A718V|SNED1_ENST00000401884.1_Missense_Mutation_p.A718V	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	718	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGCTGGGCGCGGTGGCCCTG	0.697																																					p.A718V		Atlas-SNP	.											.	SNED1	76	.	0			c.C2153T						PASS	.						19	25	23					2																	241992639		2042	4152	6194	SO:0001583	missense	25992	exon16			TGGGCGCGGTGGC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2153C>T	2.37:g.241992639C>T	ENSP00000308893:p.Ala718Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	46	29	0.630435	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	9.411	1.080605	0.20309	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.28	4.28	0.50868	Complement control module (1);Sushi/SCR/CCP (2);	0.437637	0.19414	N	0.114867	T	0.16514	0.0397	L	0.39326	1.205	0.24368	N	0.994843	P	0.42993	0.797	B	0.27500	0.08	T	0.14643	-1.0465	10	0.33141	T	0.24	.	12.5961	0.56470	0.0:0.8327:0.1673:0.0	.	718	Q8TER0	SNED1_HUMAN	V	718	ENSP00000384871:A718V;ENSP00000386007:A718V;ENSP00000308893:A718V;ENSP00000342992:A718V	ENSP00000308893:A718V	A	+	2	0	SNED1	241641312	0.996000	0.38824	0.010000	0.14722	0.007000	0.05969	4.403000	0.59729	1.927000	0.55829	0.561000	0.74099	GCG	.	.	none		0.697	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	241992639	C	T	241992639	3	4	14	1	0	0	0	0	1	0	0	0	14845	768	27	1	2215	1	SNED1	2	241992639	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	370700	241992639	1206734	54	3381										
GRM7	2917	hgsc.bcm.edu	37	chr3	7721909	7721909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcagccaccatgtcatcgagGctgtcacacaaacccagtga	9	14	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:7721909G>A	ENST00000357716.4	+	9	2899	c.2625G>A	c.(2623-2625)agG>agA	p.R875R	GRM7_ENST00000403881.1_Silent_p.R875R|GRM7_ENST00000486284.1_Silent_p.R875R|GRM7_ENST00000389336.4_Silent_p.R875R|GRM7_ENST00000402647.2_Silent_p.R875R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	875					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGTCATCGAGGCTGTCACACA	0.493																																					p.R875R		Atlas-SNP	.											GRM7,NS,carcinoma,+2,1	GRM7	223	1	0			c.G2625A						scavenged	.						107	78	88					3																	7721909		2203	4300	6503	SO:0001819	synonymous_variant	2917	exon9			ATCGAGGCTGTCA	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2625G>A	3.37:g.7721909G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	154	2	0.012987	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																			.	.	none		0.493	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		A	7721909	G	A	7721909	2	1	14	1	0	0	0	0	0	0	0	1	6802	1194	42	2		2	GRM7	3	7721909	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10		7721909	190300521	55	3382										
XIRP1	165904	hgsc.bcm.edu	37	chr3	39228103	39228103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggtcagccgggggctcccacCgcagactgtgcaggccactc	14	16	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:39228103C>A	ENST00000340369.3	-	2	3062	c.2834G>T	c.(2833-2835)cGg>cTg	p.R945L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R945L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	945					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R945Q(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCTCCCACCGCAGACTGTG	0.647																																					p.R945L		Atlas-SNP	.											XIRP1,NS,carcinoma,0,2	XIRP1	173	2	1	Substitution - Missense(1)	endometrium(1)	c.G2834T						scavenged	.						31	34	33					3																	39228103		2203	4300	6503	SO:0001583	missense	165904	exon2			TCCCACCGCAGAC	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2834G>T	3.37:g.39228103C>A	ENSP00000343140:p.Arg945Leu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	92	2	0.0217391	NM_001198621	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942450	0.53079	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05925	3.37;3.72	5.03	3.2	0.36748	.	0.559978	0.18073	N	0.152553	T	0.08626	0.0214	L	0.41236	1.265	0.80722	D	1	P;P	0.50272	0.933;0.891	P;B	0.48368	0.575;0.338	T	0.13072	-1.0523	10	0.72032	D	0.01	.	8.1912	0.31370	0.0:0.8027:0.0:0.1973	.	945;945	Q702N8;Q702N8-2	XIRP1_HUMAN;.	L	945	ENSP00000379550:R945L;ENSP00000343140:R945L	ENSP00000343140:R945L	R	-	2	0	XIRP1	39203107	0.911000	0.30947	0.993000	0.49108	0.970000	0.65996	1.250000	0.32850	1.278000	0.44430	0.655000	0.94253	CGG	.	.	none		0.647	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39228103	C	A	39228103	3	1	14	1	0	0	0	0	1	0	0	0	17426	652	23	4	2701	4	XIRP1	3	39228103	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	31506194	39228103	158794327	56	3383										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52400534	52400534	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtacgacacggcctcatgctCgtcgggcccacaggctccgg	13	16	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:52400534C>T	ENST00000420323.2	+	35	5841	c.5580C>T	c.(5578-5580)ctC>ctT	p.L1860L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1860	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTCATGCTCGTCGGGCCCA	0.622																																					p.L1860L		Atlas-SNP	.											.	DNAH1	534	.	0			c.C5580T						PASS	.						31	32	32					3																	52400534		2091	4214	6305	SO:0001819	synonymous_variant	25981	exon35			CATGCTCGTCGGG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5580C>T	3.37:g.52400534C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	114	48	0.421053	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																			.	.	none		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52400534	C	T	52400534	2	4	14	1	0	0	0	0	0	0	0	1	4597	871	31	1		1	DNAH1	3	52400534	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	13172431	52400534	145621896	57	3384										
STAB1	23166	hgsc.bcm.edu	37	chr3	52549477	52549477	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgtgtctaccgatctggcttCtccttctcccggggctgctc	10	15	4	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:52549477C>T	ENST00000321725.6	+	37	3979	c.3903C>T	c.(3901-3903)ttC>ttT	p.F1301F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1301					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GATCTGGCTTCTCCTTCTCCC	0.612																																					p.F1301F		Atlas-SNP	.											.	STAB1	178	.	0			c.C3903T						PASS	.						82	76	78					3																	52549477		2202	4300	6502	SO:0001819	synonymous_variant	23166	exon37			TGGCTTCTCCTTC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3903C>T	3.37:g.52549477C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																			.	.	none		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52549477	C	T	52549477	2	4	14	1	0	0	0	0	0	0	0	1	15236	912	32	2		2	STAB1	3	52549477	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	148943	52549477	145472953	58	3385										
CACNA1D	776	hgsc.bcm.edu	37	chr3	53757546	53757546	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggcctccaagcatatttcgtCtctcttttcaaccggtttga	7	12	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:53757546C>T	ENST00000350061.5	+	13	2263	c.1752C>T	c.(1750-1752)gtC>gtT	p.V584V	CACNA1D_ENST00000422281.2_Silent_p.V584V|CACNA1D_ENST00000288139.4_Silent_p.V604V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	584					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATATTTCGTCTCTCTTTTCA	0.478																																					p.V604V		Atlas-SNP	.											CACNA1D_ENST00000350061,NS,carcinoma,+2,2	CACNA1D	324	2	0			c.C1812T						scavenged	.						284	259	267					3																	53757546		2203	4300	6503	SO:0001819	synonymous_variant	776	exon14			TTTCGTCTCTCTT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1752C>T	3.37:g.53757546C>T		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	321	4	0.0124611	NM_000720	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																			.	.	none		0.478	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53757546	C	T	53757546	2	4	14	1	0	0	0	0	0	0	0	1	2541	900	32	2		2	CACNA1D	3	53757546	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1208069	53757546	144264884	59	3386										
ARMC8	25852	hgsc.bcm.edu	37	chr3	138009387	138009387	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aacctggctttaatcgtttaGgttcacaagaacgccaggat	9	9	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:138009387G>A	ENST00000469044.1	+	21	2165		c.e21-1		ARMC8_ENST00000538260.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|NME9_ENST00000341790.5_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Splice_Site|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Splice_Site|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TAATCGTTTAGGTTCACAAGA	0.428																																					.		Atlas-SNP	.											.	ARMC8	79	.	0			c.1853-1G>A						PASS	.						68	64	65					3																	138009387		1918	4126	6044	SO:0001630	splice_region_variant	25852	exon22			CGTTTAGGTTCAC		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1895-1G>A	3.37:g.138009387G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	147	44	0.29932	NM_015396	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	17.36	3.370690	0.61624	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.834	0.78782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC8	139492077	1.000000	0.71417	0.966000	0.40874	0.711000	0.40976	9.281000	0.95811	2.305000	0.77605	0.442000	0.29010	.	.	.	none		0.428	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Intron	A	138009387	G	A	138009387	5	1	14	1	0	0	0	0	0	0	1	0	957	1014	35	2	2000	2	ARMC8	3	138009387	Splice_Site	SNP	G	TCGA-FF-8047-01A-11D-2210-10	84251841	138009387	60013043	60	3387										
ESYT3	83850	hgsc.bcm.edu	37	chr3	138181019	138181019	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgtgaagaaggggctggatCtgaccaacctgcgcttccct	12	12	1	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:138181019C>G	ENST00000389567.4	+	8	1072	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	ESYT3_ENST00000289135.4_Missense_Mutation_p.L296V	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	296	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGGCTGGATCTGACCAACCT	0.577																																					p.L296V		Atlas-SNP	.											.	ESYT3	64	.	0			c.C886G						PASS	.						186	137	154					3																	138181019		2203	4300	6503	SO:0001583	missense	83850	exon8			CTGGATCTGACCA	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.886C>G	3.37:g.138181019C>G	ENSP00000374218:p.Leu296Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	254	148	0.582677	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	0.363	-0.938291	0.02340	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	T;T	0.35236	1.32;1.61	4.65	1.56	0.23342	.	0.297369	0.32459	N	0.006061	T	0.08846	0.0219	N	0.01624	-0.795	0.20821	N	0.999845	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.02654	T	1	-8.7761	3.55	0.07843	0.3091:0.2142:0.4766:0.0	.	296	A0FGR9	ESYT3_HUMAN	V	296	ENSP00000374218:L296V;ENSP00000289135:L296V	ENSP00000289135:L296V	L	+	1	2	ESYT3	139663709	0.000000	0.05858	0.970000	0.41538	0.979000	0.70002	-0.565000	0.05929	0.556000	0.29098	-0.321000	0.08615	CTG	.	.	none		0.577	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		G	138181019	C	G	138181019	3	3	14	1	0	0	0	0	1	0	0	0	5266	912	32	4	916	4	ESYT3	3	138181019	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	171632	138181019	59841411	61	3388										
HPS3	84343	hgsc.bcm.edu	37	chr3	148880088	148880088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcttgcagaagaacaacaaaAttggaattgaagaagcagat	10	5	0	5			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:148880088A>G	ENST00000296051.2	+	12	2400	c.2260A>G	c.(2260-2262)Att>Gtt	p.I754V	HPS3_ENST00000460120.1_Missense_Mutation_p.I589V	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	754					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAACAACAAAATTGGAATTGA	0.423									Hermansky-Pudlak syndrome																												p.I754V		Atlas-SNP	.											HPS3,NS,neuroblastoma,-2,1	HPS3	104	1	0			c.A2260G						scavenged	.						97	95	96					3																	148880088		2203	4300	6503	SO:0001583	missense	84343	exon12	Familial Cancer Database	HPS, HPS1-8	AACAAAATTGGAA	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2260A>G	3.37:g.148880088A>G	ENSP00000296051:p.Ile754Val	Somatic	87	1	0.0114943		WXS	Illumina HiSeq	Phase_I	166	3	0.0180723	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347200	0.41599	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.67523	-0.27;-0.25	5.98	4.8	0.61643	.	0.106325	0.64402	D	0.000005	T	0.62624	0.2443	L	0.59436	1.845	0.43014	D	0.994554	B;B	0.31931	0.347;0.228	B;B	0.31337	0.128;0.078	T	0.60984	-0.7154	10	0.41790	T	0.15	-13.1167	13.2856	0.60241	0.8678:0.1322:0.0:0.0	.	589;754	G5E9V4;Q969F9	.;HPS3_HUMAN	V	754;589	ENSP00000296051:I754V;ENSP00000418230:I589V	ENSP00000296051:I754V	I	+	1	0	HPS3	150362778	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	2.379000	0.44318	1.042000	0.40150	0.460000	0.39030	ATT	.	.	none		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		G	148880088	A	G	148880088	3	3	14	1	0	0	0	0	1	0	0	0	7340	101	4	2	2306	2	HPS3	3	148880088	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	10699069	148880088	49142342	62	3389										
C3orf79	152118	hgsc.bcm.edu	37	chr3	153203809	153203809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcatttctttgacagacttcCggttgtctaacccaaatgcc	6	12	3	2	rs57748412	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:153203809C>T	ENST00000446603.2	+	2	200	c.138C>T	c.(136-138)tcC>tcT	p.S46S	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	46										endometrium(1)|large_intestine(3)	4						GACAGACTTCCGGTTGTCTAA	0.358													C|||	77	0.0153754	0.0567	0.0029	5008	,	,		16257	0.0		0.0	False		,,,				2504	0.0				p.S46S		Atlas-SNP	.											.	C3orf79	13	.	0			c.C138T						PASS	.	C		144,3480		4,136,1672	37	34	35		138	0.8	0	3	dbSNP_129	35	1,8135		0,1,4067	no	coding-synonymous	C3orf79	NM_001101337.1		4,137,5739	TT,TC,CC		0.0123,3.9735,1.233		46/101	153203809	145,11615	1812	4068	5880	SO:0001819	synonymous_variant	152118	exon2			GACTTCCGGTTGT	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.138C>T	3.37:g.153203809C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_001101337		Silent	SNP	ENST00000446603.2	37	CCDS46937.1																																																																																			C|0.985;T|0.015	0.015	strong		0.358	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		T	153203809	C	T	153203809	2	4	14	1	0	0	0	0	0	0	0	1	2246	639	23	1		1	C3orf79	3	153203809	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	4323721	153203809	44818621	63	3390										
MME	4311	hgsc.bcm.edu	37	chr3	154856016	154856016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttatggaattggaaaaagaAattgccaatgtaaaacacat	8	4	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:154856016A>G	ENST00000460393.1	+	9	966	c.846A>G	c.(844-846)gaA>gaG	p.E282E	MME_ENST00000462745.1_Silent_p.E282E|MME_ENST00000492661.1_Silent_p.E282E|MME_ENST00000493237.1_Silent_p.E282E|MME_ENST00000360490.2_Silent_p.E282E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	282					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TGGAAAAAGAAATTGCCAATG	0.343																																					p.E282E		Atlas-SNP	.											MME,colon,carcinoma,+2,1	MME	133	1	0			c.A846G						scavenged	.						88	91	90					3																	154856016		2203	4300	6503	SO:0001819	synonymous_variant	4311	exon9			AAAAGAAATTGCC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.846A>G	3.37:g.154856016A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																			.	.	none		0.343	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		G	154856016	A	G	154856016	2	3	14	1	0	0	0	0	0	0	0	1	9645	11	1	2		2	MME	3	154856016	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	1652207	154856016	43166414	64	3391										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183273170	183273170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgaaatagttgctggctgcgGcaagcaccacgcggtggcag	15	10	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:183273170G>A	ENST00000341319.3	-	1	307	c.272C>T	c.(271-273)gCc>gTc	p.A91V		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCTGGCTGCGGCAAGCACCAC	0.512																																					p.A91V		Atlas-SNP	.											.	KLHL6	100	.	0			c.C272T						PASS	.						94	85	88					3																	183273170		2203	4300	6503	SO:0001583	missense	89857	exon1			GCTGCGGCAAGCA	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.272C>T	3.37:g.183273170G>A	ENSP00000341342:p.Ala91Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	282	99	0.351064	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851144	0.91277	.	.	ENSG00000172578	ENST00000341319	T	0.72725	-0.68	5.56	5.56	0.83823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.88570	2.965	0.80722	D	1	P	0.37370	0.592	P	0.46885	0.53	D	0.84866	0.0822	10	0.62326	D	0.03	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	91	Q8WZ60	KLHL6_HUMAN	V	91	ENSP00000341342:A91V	ENSP00000341342:A91V	A	-	2	0	KLHL6	184755864	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.900000	0.87376	2.608000	0.88229	0.655000	0.94253	GCC	.	.	none		0.512	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		A	183273170	G	A	183273170	3	1	14	1	0	0	0	0	1	0	0	0	8393	1203	42	2	1621	2	KLHL6	3	183273170	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	28417154	183273170	14749260	65	3392										
PAK2	5062	hgsc.bcm.edu	37	chr3	196529902	196529902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgttagggcatgccagaacaGtgggctcgattactacagac	12	9	0	2	rs201465227	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:196529902G>C	ENST00000327134.3	+	4	625	c.303G>C	c.(301-303)caG>caC	p.Q101H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	101	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGCCAGAACAGTGGGCTCGAT	0.373																																					p.Q101H		Atlas-SNP	.											PAK2_ENST00000327134,colon,carcinoma,0,4	PAK2	113	4	0			c.G303C						scavenged	.						82	72	76					3																	196529902		2203	4300	6503	SO:0001583	missense	5062	exon4			AGAACAGTGGGCT	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.303G>C	3.37:g.196529902G>C	ENSP00000314067:p.Gln101His	Somatic	136	3	0.0220588		WXS	Illumina HiSeq	Phase_I	107	4	0.0373832	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480973	0.63849	.	.	ENSG00000180370	ENST00000327134	D	0.86366	-2.11	5.51	1.7	0.24286	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	M	0.91090	3.175	0.52099	D	0.999949	D	0.60160	0.987	P	0.61275	0.886	D	0.90843	0.4725	10	0.72032	D	0.01	.	6.8738	0.24135	0.4882:0.0:0.5118:0.0	.	101	Q13177	PAK2_HUMAN	H	101	ENSP00000314067:Q101H	ENSP00000314067:Q101H	Q	+	3	2	PAK2	198014299	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.826000	0.27407	0.705000	0.31890	-0.253000	0.11424	CAG	G|0.914;C|0.086	0.086	strong		0.373	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		C	196529902	G	C	196529902	3	2	14	1	0	0	0	0	1	0	0	0	11401	1020	36	4	313	4	PAK2	3	196529902	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	13256732	196529902	1492528	66	3393										
PAK2	5062	hgsc.bcm.edu	37	chr3	196530022	196530022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgaagcagaaatatctgagCtttactcctcctggtaagag	10	8	1	4	rs115224945	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																					p.S141S		Atlas-SNP	.											PAK2_ENST00000327134,rectum,carcinoma,0,2	PAK2	113	2	0			c.C423T						scavenged	.						85	79	81					3																	196530022		2203	4300	6503	SO:0001819	synonymous_variant	5062	exon4			TCTGAGCTTTACT	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	68	3	0.0441176	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																			C|0.986;T|0.015	0.015	strong		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196530022	C	T	196530022	2	4	14	1	0	0	0	0	0	0	0	1	11401	796	28	2		2	PAK2	3	196530022	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	120	196530022	1492408	67	3394										
ABLIM2	84448	hgsc.bcm.edu	37	chr4	8089920	8089920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaggccctgggacaggtgcgCgctgctgcccaccgatacgg	16	14	0	0	rs371815593		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:8089920C>T	ENST00000341937.5	-	4	494	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	ABLIM2_ENST00000296372.8_Missense_Mutation_p.A144T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A144T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A144T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A144T|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A144T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A144T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A144T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A144T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A144T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GACAGGTGCGCGCTGCTGCCC	0.627																																					p.A144T		Atlas-SNP	.											.	ABLIM2	59	.	0			c.G430A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4108		0,0,2054	34	40	38		430,430,430,430,430,430,430	-1.5	0	4		38	2,8350		0,2,4174	no	missense,missense,missense,missense,missense,missense,missense	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	58,58,58,58,58,58,58	0,2,6228	TT,TC,CC		0.0239,0.0,0.0161	benign,benign,benign,benign,benign,benign,benign	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089920	2,12458	2054	4176	6230	SO:0001583	missense	84448	exon4			GGTGCGCGCTGCT	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.430G>A	4.37:g.8089920C>T	ENSP00000342813:p.Ala144Thr	Somatic	399	0	0		WXS	Illumina HiSeq	Phase_I	394	190	0.482233	NM_001130083	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	4.648	0.120390	0.08881	0.0	2.39E-4	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.02	-1.51	0.08664	.	0.721192	0.12976	U	0.423720	T	0.23289	0.0563	L	0.37850	1.14	0.09310	N	0.999998	B;B;B;B;B;B;B;B	0.15141	0.012;0.001;0.007;0.0;0.001;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.09377	0.003;0.002;0.004;0.002;0.002;0.0;0.0;0.0	T	0.16689	-1.0394	10	0.30078	T	0.28	.	0.3069	0.00282	0.2364:0.3013:0.2088:0.2534	.	149;144;144;144;144;144;144;144	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	144	ENSP00000354887:A144T;ENSP00000296372:A144T;ENSP00000441255:A144T;ENSP00000444365:A144T;ENSP00000393511:A144T;ENSP00000342813:A144T;ENSP00000355003:A144T;ENSP00000384658:A144T;ENSP00000421283:A144T;ENSP00000389410:A144T	ENSP00000296372:A144T	A	-	1	0	ABLIM2	8140820	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.120000	0.10660	-0.226000	0.09899	-0.263000	0.10527	GCG	.	.	weak		0.627	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		T	8089920	C	T	8089920	3	4	14	1	0	0	0	0	1	0	0	0	95	768	27	1	1633	1	ABLIM2	4	8089920	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		8089920	183064356	68	3395										
DRD5	1816	hgsc.bcm.edu	37	chr4	9783905	9783905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcttcatcgtgtctctggcCgtgtcagaccttttcgtggc	11	12	4	1	rs2227848	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:9783905C>T	ENST00000304374.2	+	1	648	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	84					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTCTCTGGCCGTGTCAGACC	0.642																																					p.A84A		Atlas-SNP	.											DRD5,colon,carcinoma,+1,1	DRD5	119	1	0			c.C252T						scavenged	.						54	47	49					4																	9783905		2203	4300	6503	SO:0001819	synonymous_variant	1816	exon1			TCTGGCCGTGTCA	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.252C>T	4.37:g.9783905C>T		Somatic	139	6	0.0431655		WXS	Illumina HiSeq	Phase_I	138	12	0.0869565	NM_000798	B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																			C|0.963;T|0.037	0.037	strong		0.642	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9783905	C	T	9783905	2	4	14	1	0	0	0	0	0	0	0	1	4760	639	23	1		1	DRD5	4	9783905	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1693985	9783905	181370371	69	3396										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10446230	10446230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cttgtgttcctctgtctggtTatcttcctgcttcctattag	7	11	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:10446230T>C	ENST00000326756.3	-	3	2161	c.1723A>G	c.(1723-1725)Aac>Gac	p.N575D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	575					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCTGTCTGGTTATCTTCCTGC	0.373																																					p.N575D		Atlas-SNP	.											ZNF518B,NS,carcinoma,+1,1	ZNF518B	116	1	0			c.A1723G						scavenged	.						93	87	89					4																	10446230		2203	4300	6503	SO:0001583	missense	85460	exon3			TCTGGTTATCTTC	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1723A>G	4.37:g.10446230T>C	ENSP00000317614:p.Asn575Asp	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046658	0.36085	.	.	ENSG00000178163	ENST00000326756	T	0.01527	4.8	5.15	0.0537	0.14308	.	1.471350	0.03957	N	0.289469	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47222	-0.9134	10	0.12430	T	0.62	-1.4755	4.6115	0.12404	0.0:0.3292:0.3434:0.3275	.	575	Q9C0D4	Z518B_HUMAN	D	575	ENSP00000317614:N575D	ENSP00000317614:N575D	N	-	1	0	ZNF518B	10055328	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.313000	0.19415	0.106000	0.17784	0.533000	0.62120	AAC	.	.	none		0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		C	10446230	T	C	10446230	3	2	14	1	0	0	0	0	1	0	0	0	17960	1754	61	2	1505	2	ZNF518B	4	10446230	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	662325	10446230	180708046	70	3397										
CC2D2A	57545	hgsc.bcm.edu	37	chr4	15601207	15601207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggaggccacgccatctgactCggtggaataggtattgtacc	13	10	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:15601207C>T	ENST00000503292.1	+	37	4732	c.4552C>T	c.(4552-4554)Cgg>Tgg	p.R1518W	CC2D2A_ENST00000413206.1_Missense_Mutation_p.R1518W|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R1410W|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R1518W	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1518					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCATCTGACTCGGTGGAATAG	0.403																																					p.R1518W		Atlas-SNP	.											CC2D2A_ENST00000424120,NS,carcinoma,0,2	CC2D2A	158	2	0			c.C4552T						scavenged	.						68	63	65					4																	15601207		1921	4143	6064	SO:0001583	missense	57545	exon37			CTGACTCGGTGGA	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4552C>T	4.37:g.15601207C>T	ENSP00000421809:p.Arg1518Trp	Somatic	148	2	0.0135135		WXS	Illumina HiSeq	Phase_I	182	2	0.010989	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038616	0.75617	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.75	3.02	0.34903	.	0.058391	0.64402	D	0.000001	D	0.83096	0.5180	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	D	0.84022	0.0354	10	0.72032	D	0.01	.	14.3935	0.66996	0.3844:0.6156:0.0:0.0	.	1518;1410	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	W	1518;1518;1410;1410;1518;1410	ENSP00000403465:R1518W;ENSP00000398391:R1518W;ENSP00000421809:R1518W;ENSP00000374303:R1410W	ENSP00000374303:R1410W	R	+	1	2	CC2D2A	15210305	0.998000	0.40836	0.585000	0.28666	0.982000	0.71751	3.821000	0.55700	0.312000	0.23038	0.650000	0.86243	CGG	.	.	none		0.403	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15601207	C	T	15601207	3	4	14	1	0	0	0	0	1	0	0	0	2728	875	31	1	4893	1	CC2D2A	4	15601207	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5154977	15601207	175553069	71	3398										
PRKG2	5593	hgsc.bcm.edu	37	chr4	82092909	82092909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccccaaatgtggtccacatAgggatggaggacagcaattt	11	9	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:82092909A>G	ENST00000395578.1	-	4	794	c.678T>C	c.(676-678)ccT>ccC	p.P226P	PRKG2_ENST00000264399.1_Silent_p.P226P|RP11-100N20.1_ENST00000505175.1_RNA|RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000418486.2_Silent_p.P226P			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	226					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGTCCACATAGGGATGGAGG	0.408																																					p.P226P		Atlas-SNP	.											.	PRKG2	195	.	0			c.T678C						PASS	.						97	99	98					4																	82092909		2203	4300	6503	SO:0001819	synonymous_variant	5593	exon3			CCACATAGGGATG	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.678T>C	4.37:g.82092909A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	77	5	0.0649351	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																			.	.	none		0.408	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		G	82092909	A	G	82092909	2	3	14	1	0	0	0	0	0	0	0	1	12523	407	15	3		3	PRKG2	4	82092909	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	66491702	82092909	109061367	72	3399										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155411418	155411418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aggtctccacactcgcaccaCgccgctcagctcctccaccg	7	21	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:155411418C>T	ENST00000339452.1	-	1	1450	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	DCHS2_ENST00000443500.1_Missense_Mutation_p.V364M|DCHS2_ENST00000456341.2_Missense_Mutation_p.V357M	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1533	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTCGCACCACGCCGCTCAGC	0.731																																					p.V364M		Atlas-SNP	.											.	DCHS2	594	.	0			c.G1090A						PASS	.						8	11	10					4																	155411418		688	1580	2268	SO:0001583	missense	54798	exon1			GCACCACGCCGCT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1090G>A	4.37:g.155411418C>T	ENSP00000345062:p.Val364Met	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	10	7	0.7	NM_001142552	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800606	0.31869	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.53423	0.62;0.62;0.62	4.7	2.9	0.33743	.	.	.	.	.	T	0.62429	0.2427	M	0.64260	1.97	0.19300	N	0.999978	P;D	0.89917	0.955;1.0	P;D	0.73380	0.523;0.98	T	0.51164	-0.8740	9	0.48119	T	0.1	.	10.3423	0.43887	0.1419:0.5835:0.2746:0.0	.	364;364	E9PG03;E9PC11	.;.	M	364;364;357;364	ENSP00000345062:V364M;ENSP00000408543:V357M;ENSP00000395539:V364M	ENSP00000345062:V364M	V	-	1	0	DCHS2	155630868	0.091000	0.21658	0.990000	0.47175	0.214000	0.24535	0.793000	0.26944	0.468000	0.27243	0.561000	0.74099	GTG	.	.	none		0.731	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		T	155411418	C	T	155411418	3	4	14	1	0	0	0	0	1	0	0	0	4288	536	19	1	9994	1	DCHS2	4	155411418	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	73318509	155411418	35742858	73	3400										
NEK1	4750	hgsc.bcm.edu	37	chr4	170400567	170400567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aacttaccacgccaacttctTtcaaagctgaagttacagaa	5	11	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:170400567T>A	ENST00000439128.2	-	22	2682	c.2042A>T	c.(2041-2043)aAa>aTa	p.K681I	NEK1_ENST00000507142.1_Missense_Mutation_p.K709I|NEK1_ENST00000512193.1_Missense_Mutation_p.K612I|NEK1_ENST00000511633.1_Missense_Mutation_p.K665I|NEK1_ENST00000510533.1_Missense_Mutation_p.K637I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	681					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)		GCCAACTTCTTTCAAAGCTGA	0.353																																					p.K709I		Atlas-SNP	.											.	NEK1	203	.	0			c.A2126T						PASS	.						75	73	74					4																	170400567		1843	4074	5917	SO:0001583	missense	4750	exon24			ACTTCTTTCAAAG	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.2042A>T	4.37:g.170400567T>A	ENSP00000408020:p.Lys681Ile	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	109	92	0.844037	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970361	0.74246	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.74842	-0.88;-0.81;-0.81;-0.8;-0.83	4.74	4.74	0.60224	.	0.191168	0.36482	N	0.002565	D	0.82802	0.5116	M	0.64997	1.995	0.46078	D	0.998856	D;D;D;D;D	0.63880	0.993;0.993;0.993;0.993;0.987	D;P;D;P;P	0.68353	0.957;0.898;0.957;0.898;0.907	D	0.84491	0.0611	10	0.66056	D	0.02	.	12.9491	0.58389	0.0:0.0:0.0:1.0	.	612;665;709;637;681	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	I	681;665;637;709;612	ENSP00000408020:K681I;ENSP00000423332:K665I;ENSP00000427653:K637I;ENSP00000424757:K709I;ENSP00000424938:K612I	ENSP00000408020:K681I	K	-	2	0	NEK1	170637142	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.033000	0.49743	1.988000	0.58038	0.397000	0.26171	AAA	.	.	none		0.353	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			A	170400567	T	A	170400567	3	1	14	1	0	0	0	0	1	0	0	0	10321	1841	64	5	1786	5	NEK1	4	170400567	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	14989149	170400567	20753709	74	3401										
UFSP2	55325	hgsc.bcm.edu	37	chr4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agcagatagtctgcagagatCgataagcacagccccagcca	10	12	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428																																					p.R305Q		Atlas-SNP	.											.	UFSP2	33	.	0			c.G914A						PASS	.						132	117	122					4																	186329507		2203	4300	6503	SO:0001583	missense	55325	exon8			AGAGATCGATAAG	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.914G>A	4.37:g.186329507C>T	ENSP00000264689:p.Arg305Gln	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_018359	Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	UFSP2|UFSP2	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA	.	.	none		0.428	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		T	186329507	C	T	186329507	3	4	14	1	0	0	0	0	1	0	0	0	16935	884	31	1	515	1	UFSP2	4	186329507	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	15928940	186329507	4824769	75	3402										
CTNND2	1501	hgsc.bcm.edu	37	chr5	11732341	11732341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccggggctcagggaactcgtCttctctgaggctgatgaagg	15	10	3	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:11732341C>A	ENST00000304623.8	-	2	270	c.81G>T	c.(79-81)aaG>aaT	p.K27N	CTNND2_ENST00000359640.2_Missense_Mutation_p.K27N|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	27					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGAACTCGTCTTCTCTGAGG	0.502																																					p.K27N		Atlas-SNP	.											.	CTNND2	289	.	0			c.G81T						PASS	.						126	127	126					5																	11732341		2203	4300	6503	SO:0001583	missense	1501	exon2			ACTCGTCTTCTCT	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.81G>T	5.37:g.11732341C>A	ENSP00000307134:p.Lys27Asn	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	7.609	0.674382	0.14841	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.76060	-0.94;-0.99	5.8	3.08	0.35506	.	0.000000	0.46758	D	0.000274	T	0.50034	0.1592	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20874	-1.0262	10	0.12430	T	0.62	-20.7622	10.2002	0.43077	0.0:0.7052:0.0:0.2948	.	27	Q9UQB3	CTND2_HUMAN	N	27;27;13;13	ENSP00000307134:K27N;ENSP00000352661:K27N	ENSP00000307134:K27N	K	-	3	2	CTNND2	11785341	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	0.865000	0.27940	0.109000	0.17891	-0.829000	0.03081	AAG	.	.	none		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	11732341	C	A	11732341	3	1	14	1	0	0	0	0	1	0	0	0	4020	912	32	4	3680	4	CTNND2	5	11732341	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		11732341	169182919	76	3403										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13721176	13721176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctggcccatggacacataaCgggtttctatttttaatctc	7	11	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:13721176C>T	ENST00000265104.4	-	71	12316	c.12212G>A	c.(12211-12213)cGt>cAt	p.R4071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4071	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4071H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGACACATAACGGGTTTCTAT	0.512									Kartagener syndrome																												p.R4071H		Atlas-SNP	.											DNAH5,NS,adenocarcinoma,-1,2	DNAH5	868	2	1	Substitution - Missense(1)	large_intestine(1)	c.G12212A						scavenged	.						97	100	99					5																	13721176		2203	4300	6503	SO:0001583	missense	1767	exon71	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ACATAACGGGTTT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12212G>A	5.37:g.13721176C>T	ENSP00000265104:p.Arg4071His	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	77	2	0.025974	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888028	0.33348	.	.	ENSG00000039139	ENST00000265104	T	0.07800	3.16	5.18	3.4	0.38934	Dynein heavy chain (1);	0.169666	0.53938	N	0.000056	T	0.06826	0.0174	L	0.35723	1.085	0.46356	D	0.999006	B	0.11235	0.004	B	0.18263	0.021	T	0.21965	-1.0230	10	0.10902	T	0.67	.	10.9226	0.47174	0.0:0.7886:0.0:0.2114	.	4071	Q8TE73	DYH5_HUMAN	H	4071	ENSP00000265104:R4071H	ENSP00000265104:R4071H	R	-	2	0	DNAH5	13774176	0.510000	0.26171	0.768000	0.31515	0.684000	0.39900	1.254000	0.32897	0.688000	0.31529	-0.259000	0.10710	CGT	.	.	none		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13721176	C	T	13721176	3	4	14	1	0	0	0	0	1	0	0	0	4604	536	19	1	1698	1	DNAH5	5	13721176	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1988835	13721176	167194084	77	3404										
FYB	2533	hgsc.bcm.edu	37	chr5	39135063	39135063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctcagttcattctttcctccTttgacatcacaacaagcttt	3	13	4	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:39135063T>C	ENST00000351578.6	-	8	1759	c.1569A>G	c.(1567-1569)aaA>aaG	p.K523K	FYB_ENST00000540520.1_Silent_p.K533K|FYB_ENST00000515010.1_Silent_p.K523K|FYB_ENST00000512982.1_Silent_p.K523K|FYB_ENST00000505428.1_Silent_p.K523K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	523	SH3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTTCCTCCTTTGACATCAC	0.403																																					p.K533K		Atlas-SNP	.											FYB_ENST00000540520,NS,carcinoma,-1,4	FYB	354	4	0			c.A1599G						scavenged	.						182	165	170					5																	39135063		1860	4117	5977	SO:0001819	synonymous_variant	2533	exon8			TCCTCCTTTGACA	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1569A>G	5.37:g.39135063T>C		Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	296	3	0.0101351	NM_001243093	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																			.	.	none		0.403	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		C	39135063	T	C	39135063	2	2	14	1	0	0	0	0	0	0	0	1	6124	1606	56	3		3	FYB	5	39135063	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	25413887	39135063	141780197	78	3405										
IL31RA	133396	hgsc.bcm.edu	37	chr5	55178961	55178961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatggataaagcctgagttgGcgcctgtttcatctgattta	10	7	2	2	rs77015584		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:55178961G>A	ENST00000447346.2	+	5	609	c.544G>A	c.(544-546)Gcg>Acg	p.A182T	IL31RA_ENST00000354961.4_Missense_Mutation_p.A163T|IL31RA_ENST00000490985.1_Missense_Mutation_p.A40T|IL31RA_ENST00000297015.3_Missense_Mutation_p.A40T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A182T|IL31RA_ENST00000396834.1_Missense_Mutation_p.A163T|IL31RA_ENST00000359040.5_Missense_Mutation_p.A182T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	150	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCTGAGTTGGCGCCTGTTTC	0.378																																					p.A182T		Atlas-SNP	.											IL31RA,NS,carcinoma,-1,1	IL31RA	84	1	0			c.G544A						scavenged	.						98	94	95					5																	55178961		2203	4300	6503	SO:0001583	missense	133396	exon5			GAGTTGGCGCCTG	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.544G>A	5.37:g.55178961G>A	ENSP00000415900:p.Ala182Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_001242637	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431152	0.25726	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	6.0	-2.62	0.06152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	5.676280	0.01574	U	0.020707	T	0.36717	0.0977	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.33637	0.136;0.138;0.063;0.264;0.42	B;B;B;B;B	0.32928	0.055;0.037;0.032;0.055;0.155	T	0.06303	-1.0834	10	0.13108	T	0.6	-12.1995	0.5175	0.00606	0.3567:0.1256:0.2612:0.2565	.	150;182;163;182;182	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	T	182;163;182;182;40;40;163	ENSP00000380048:A182T;ENSP00000380046:A163T;ENSP00000415900:A182T;ENSP00000351935:A182T;ENSP00000297015:A40T;ENSP00000427533:A40T;ENSP00000347047:A163T	ENSP00000297015:A40T	A	+	1	0	IL31RA	55214718	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	-0.048000	0.11944	-0.224000	0.09928	0.650000	0.86243	GCG	.	.	alt		0.378	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		A	55178961	G	A	55178961	3	1	14	1	0	0	0	0	1	0	0	0	7691	1203	42	2	562	2	IL31RA	5	55178961	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	16043898	55178961	125736299	79	3406										
ERBB2IP	55914	hgsc.bcm.edu	37	chr5	65349497	65349497	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	accagagatcatggaaagatCaaaaacacaggatattgtgc	9	7	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:65349497C>A	ENST00000284037.5	+	21	2740	c.2351C>A	c.(2350-2352)tCa>tAa	p.S784*	ERBB2IP_ENST00000380939.2_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Nonsense_Mutation_p.S780*|ERBB2IP_ENST00000506030.1_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000380936.1_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000380943.2_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000380935.1_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000380938.2_Nonsense_Mutation_p.S784*|ERBB2IP_ENST00000508515.1_Nonsense_Mutation_p.S784*	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	784					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.S784*(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATGGAAAGATCAAAAACACAG	0.323																																					p.S784X		Atlas-SNP	.											ERBB2IP,medulla,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ERBB2IP	120	1	1	Substitution - Nonsense(1)	central_nervous_system(1)	c.C2351A						PASS	.						48	50	49					5																	65349497		2203	4299	6502	SO:0001587	stop_gained	55914	exon21			AAAGATCAAAAAC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2351C>A	5.37:g.65349497C>A	ENSP00000284037:p.Ser784*	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Nonsense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	38	6.691405	0.97768	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	5.56	4.69	0.59074	.	0.350015	0.29653	N	0.011556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	9.0238	0.36215	0.0:0.7891:0.0:0.2109	.	.	.	.	X	784;784;784;784;784;784;780;784;784	.	ENSP00000284037:S784X	S	+	2	0	ERBB2IP	65385253	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.844000	0.48246	1.347000	0.45714	0.467000	0.42956	TCA	.	.	none		0.323	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		A	65349497	C	A	65349497	4	1	14	1	0	0	0	0	0	1	0	0	5207	838	29	4	2425	4	ERBB2IP	5	65349497	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	10170536	65349497	115565763	80	3407										
JMY	133746	hgsc.bcm.edu	37	chr5	78587039	78587039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aacggatggaaaaactccagTatgcagtttctaaggaaact	9	7	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:78587039T>C	ENST00000396137.4	+	4	1906	c.1444T>C	c.(1444-1446)Tat>Cat	p.Y482H		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	482	Interaction with p300/EP300. {ECO:0000250}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AAAACTCCAGTATGCAGTTTC	0.403																																					p.Y482H		Atlas-SNP	.											.	JMY	82	.	0			c.T1444C						PASS	.						76	74	75					5																	78587039		1879	4094	5973	SO:0001583	missense	133746	exon4			CTCCAGTATGCAG	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1444T>C	5.37:g.78587039T>C	ENSP00000379441:p.Tyr482His	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_152405	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659897	0.88154	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.11169	2.8	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04855	-1.0922	10	0.66056	D	0.02	.	15.2486	0.73526	0.0:0.0:0.0:1.0	.	482	Q8N9B5	JMY_HUMAN	H	482	ENSP00000379441:Y482H	ENSP00000282259:Y482H	Y	+	1	0	JMY	78622795	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.223000	0.78033	1.999000	0.58509	0.454000	0.30748	TAT	.	.	none		0.403	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		C	78587039	T	C	78587039	3	2	14	1	0	0	0	0	1	0	0	0	7957	1638	57	2	1458	2	JMY	5	78587039	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	13237542	78587039	102328221	81	3408										
LNPEP	4012	hgsc.bcm.edu	37	chr5	96315248	96315249	+	Frame_Shift_Ins	INS	-	-	A													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttaccaaagaaggctgccatINSaaaaaaaaccagtcaattgg							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:96315248_96315249insA	ENST00000231368.5	+	2	1118_1119	c.426_427insA	c.(427-429)aaafs	p.K143fs	LNPEP_ENST00000395770.3_Frame_Shift_Ins_p.K129fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	143					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAGGCTGCCATAAAAAAAACCA	0.45																																					p.H142fs		Pindel	.											.	LNPEP	80	.	0			c.426_427insA						PASS	.																																			SO:0001589	frameshift_variant	4012	exon2			.	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.434dupA	5.37:g.96315256_96315256dupA	ENSP00000231368:p.Lys143fs	Somatic	141	.	.		WXS	Illumina HiSeq	Phase_I	174	42	0.241	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Frame_Shift_Ins	INS	ENST00000231368.5	37	CCDS4087.1																																																																																			.	.	none		0.45	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		A	96315249	-	A	96315248	7	5	14	1	0	1	1	0	0	0	0	0	8864	1403	49	0	432	0	LNPEP	5	96315248	Frame_Shift_Ins	INS	-	TCGA-FF-8047-01A-11D-2210-10	17728209	96315248	84600012	82	3409										
RAPGEF6	51735	hgsc.bcm.edu	37	chr5	130764633	130764633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	catcagtcacatctcctagtTtaggatggaatggctgcaaa	9	9	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:130764633T>C	ENST00000509018.1	-	27	4947	c.4742A>G	c.(4741-4743)aAa>aGa	p.K1581R	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K1631R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K1589R|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1581					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATCTCCTAGTTTAGGATGGAA	0.443																																					p.K1589R	Melanoma(168;435 1955 13113 13877 23213)	Atlas-SNP	.											RAPGEF6_ENST00000509018,NS,carcinoma,-1,1	RAPGEF6	361	1	0			c.A4766G						scavenged	.						125	118	120					5																	130764633		2203	4300	6503	SO:0001583	missense	51735	exon28			CCTAGTTTAGGAT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4742A>G	5.37:g.130764633T>C	ENSP00000421684:p.Lys1581Arg	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	168	2	0.0119048	NM_001164386	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	2.691	-0.273241	0.05716	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.20881	2.04;2.04;2.12	4.8	2.34	0.29019	.	0.340605	0.28803	N	0.014094	T	0.10165	0.0249	L	0.27053	0.805	0.44181	D	0.996998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.24657	-1.0154	10	0.02654	T	1	.	6.1666	0.20394	0.0:0.149:0.1364:0.7146	.	1589;1631;1581	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	R	1581;1589;1631	ENSP00000421684:K1581R;ENSP00000296859:K1589R;ENSP00000426948:K1631R	ENSP00000426948:K1631R	K	-	2	0	RAPGEF6;FNIP1	130792532	0.979000	0.34478	0.804000	0.32291	0.534000	0.34807	1.341000	0.33907	0.329000	0.23460	0.533000	0.62120	AAA	.	.	none		0.443	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		C	130764633	T	C	130764633	3	2	14	1	0	0	0	0	1	0	0	0	13048	1841	64	2	71	2	RAPGEF6	5	130764633	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	34449385	130764633	50150627	83	3410										
C5orf24	134553	hgsc.bcm.edu	37	chr5	134190831	134190831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	taaaagatgaactaaagaaaAagaagaatctcaaccgatct	6	6	2	5			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:134190831A>G	ENST00000394976.3	+	2	469	c.241A>G	c.(241-243)Aag>Gag	p.K81E	C5orf24_ENST00000435259.2_Missense_Mutation_p.K81E|C5orf24_ENST00000338051.4_Missense_Mutation_p.K81E|C5orf24_ENST00000504727.1_Missense_Mutation_p.K81E	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	81										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCT	0.478																																					p.K81E		Atlas-SNP	.											C5orf24,NS,carcinoma,-2,1	C5orf24	9	1	0			c.A241G						scavenged	.						77	84	82					5																	134190831		2203	4300	6503	SO:0001583	missense	134553	exon2			AAGAAAAAGAAGA	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.241A>G	5.37:g.134190831A>G	ENSP00000378427:p.Lys81Glu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_001135586	D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	ENST00000394976.3	37	CCDS4179.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037715	0.75617	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259	.	.	.	5.98	5.98	0.97165	.	0.189750	0.56097	D	0.000032	T	0.48187	0.1486	L	0.34521	1.04	0.49051	D	0.99974	B;B	0.31817	0.341;0.341	B;B	0.25140	0.058;0.058	T	0.50996	-0.8761	9	0.87932	D	0	-7.8943	16.4622	0.84064	1.0:0.0:0.0:0.0	.	81;81	Q7Z6I8-2;Q7Z6I8	.;CE024_HUMAN	E	81	.	ENSP00000337044:K81E	K	+	1	0	C5orf24	134218730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.946000	0.70234	2.289000	0.77006	0.533000	0.62120	AAG	.	.	none		0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		G	134190831	A	G	134190831	3	3	14	1	0	0	0	0	1	0	0	0	2287	15	1	2	243	2	C5orf24	5	134190831	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	3426198	134190831	46724429	84	3411										
PCDHA11	56138	hgsc.bcm.edu	37	chr5	140250132	140250132	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagtgtcggcgcgggacgcgGacgcgcaggagaacgcgctg	19	12	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:140250132G>C	ENST00000398640.2	+	1	1444	c.1444G>C	c.(1444-1446)Gac>Cac	p.D482H	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGACGCGGACGCGCAGGA	0.667																																					p.D482H		Atlas-SNP	.											PCDHA11_ENST00000398640,NS,carcinoma,-2,1	PCDHA11	209	1	0			c.G1444C						scavenged	.						89	93	92					5																	140250132		2203	4300	6503	SO:0001583	missense	56138	exon1			GACGCGGACGCGC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1444G>C	5.37:g.140250132G>C	ENSP00000381636:p.Asp482His	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	122	2	0.0163934	NM_018902	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784938	0.49997	.	.	ENSG00000249158	ENST00000398640	T	0.74632	-0.86	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93449	0.7910	H	0.99800	4.79	0.48632	D	0.999687	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96457	0.9338	9	0.87932	D	0	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	482;482	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	482	ENSP00000381636:D482H	ENSP00000381636:D482H	D	+	1	0	PCDHA11	140230316	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	9.333000	0.96459	2.618000	0.88619	0.556000	0.70494	GAC	.	.	none		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		C	140250132	G	C	140250132	3	2	14	1	0	0	0	0	1	0	0	0	11521	1174	41	4	1446	4	PCDHA11	5	140250132	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6059301	140250132	40665128	85	3412										
SPINK5	11005	hgsc.bcm.edu	37	chr5	147470759	147470759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgaaaatgccaagcgagagGgtgaaactagaattcgacga	12	7	0	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:147470759G>A	ENST00000256084.7	+	8	676	c.634G>A	c.(634-636)Ggt>Agt	p.G212S	SPINK5_ENST00000398454.1_Missense_Mutation_p.G212S|SPINK5_ENST00000359874.3_Missense_Mutation_p.G212S|SPINK5_ENST00000476608.1_3'UTR	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	212	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCGAGAGGGTGAAACTAG	0.363																																					p.G212S		Atlas-SNP	.											.	SPINK5	245	.	0			c.G634A						PASS	.						90	86	87					5																	147470759		1866	4104	5970	SO:0001583	missense	11005	exon8			CGAGAGGGTGAAA	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.634G>A	5.37:g.147470759G>A	ENSP00000256084:p.Gly212Ser	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	26	10	0.384615	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142058	0.21205	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.39406	1.08;1.11;1.17;1.12	4.3	-0.561	0.11785	Proteinase inhibitor I1, Kazal (1);	1.472930	0.04149	N	0.321015	T	0.18841	0.0452	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.22146	0.044;0.014;0.02;0.065	B;B;B;B	0.21360	0.034;0.013;0.034;0.02	T	0.16778	-1.0391	10	0.23302	T	0.38	-0.4099	7.2188	0.25975	0.5383:0.0:0.4617:0.0	.	193;212;212;212	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	S	212;212;193;212	ENSP00000381472:G212S;ENSP00000352936:G212S;ENSP00000421519:G193S;ENSP00000256084:G212S	ENSP00000256084:G212S	G	+	1	0	SPINK5	147450952	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.154000	0.16343	-0.127000	0.11661	0.650000	0.86243	GGT	.	.	none		0.363	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		A	147470759	G	A	147470759	3	1	14	1	0	0	0	0	1	0	0	0	15061	1232	43	2	664	2	SPINK5	5	147470759	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	7220627	147470759	33444501	86	3413										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc	18	8	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																					p.D948N		Atlas-SNP	.											ADAMTS2,caecum,carcinoma,0,2	ADAMTS2	190	2	0			c.G2842A						scavenged	.						112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509	exon19			TGTTGTCGTGTAG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn	Somatic	146	2	0.0136986		WXS	Illumina HiSeq	Phase_I	103	2	0.0194175	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC	.	.	none		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178552090	C	T	178552090	3	4	14	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	31081331	178552090	2363170	87	3414										
HIST1H4F	8361	hgsc.bcm.edu	37	chr6	26240696	26240696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtaaaggtttaggaaagggaGgcgccaagcgccatcgcaaa	14	8	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:26240696G>A	ENST00000377745.2	+	1	136	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	15					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGAAAGGGAGGCGCCAAGCG	0.537																																					p.G15S		Atlas-SNP	.											.	HIST1H4F	9	.	0			c.G43A						PASS	.						46	47	46					6																	26240696		2203	4300	6503	SO:0001583	missense	8361	exon1			AAGGGAGGCGCCA	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.43G>A	6.37:g.26240696G>A	ENSP00000366974:p.Gly15Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_003540	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.761893	0.49468	.	.	ENSG00000198327	ENST00000377745	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	.	.	.	0.45899	D	0.998749	.	.	.	.	.	.	T	0.72861	-0.4164	6	0.59425	D	0.04	.	16.6943	0.85330	0.0:0.0:1.0:0.0	.	.	.	.	S	15	.	ENSP00000366974:G15S	G	+	1	0	HIST1H4F	26348675	1.000000	0.71417	0.813000	0.32504	0.016000	0.09150	9.222000	0.95196	2.503000	0.84419	0.655000	0.94253	GGC	.	.	none		0.537	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		A	26240696	G	A	26240696	3	1	14	1	0	0	0	0	1	0	0	0	7170	1000	35	2	45	2	HIST1H4F	6	26240696	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		26240696	144874371	88	3415										
OR2H1	26716	hgsc.bcm.edu	37	chr6	29429915	29429915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcctttgaccgatacgtggcTgtctgccagcccctccacta	9	16	1	1	rs538200065	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:29429915T>C	ENST00000377136.1	+	4	834	c.369T>C	c.(367-369)gcT>gcC	p.A123A	OR2H1_ENST00000377132.1_Silent_p.A123A|OR2H1_ENST00000377133.1_Silent_p.A123A|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Silent_p.A123A|OR2H1_ENST00000396792.2_Silent_p.A123A			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						GATACGTGGCTGTCTGCCAGC	0.582																																					p.A123A		Atlas-SNP	.											.	OR2H1	38	.	0			c.T369C						PASS	.						163	167	165					6																	29429915		1510	2709	4219	SO:0001819	synonymous_variant	26716	exon3			CGTGGCTGTCTGC	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.369T>C	6.37:g.29429915T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	111	6	0.0540541	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Silent	SNP	ENST00000377136.1	37	CCDS4660.1																																																																																			.	.	none		0.582	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			C	29429915	T	C	29429915	2	2	14	1	0	0	0	0	0	0	0	1	11001	1567	55	3		3	OR2H1	6	29429915	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	3189219	29429915	141685152	89	3416										
TNXB	7148	hgsc.bcm.edu	37	chr6	32010286	32010286	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aacacgttcaggggccgctcGcggttgccgttgaggaagat	15	10	1	2	rs199762902	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:32010286G>C	ENST00000375244.3	-	40	12357	c.12156C>G	c.(12154-12156)cgC>cgG	p.R4052R	TNXB_ENST00000375247.2_Silent_p.R4050R|TNXB_ENST00000451343.1_Silent_p.R481R			P22105	TENX_HUMAN	tenascin XB	4097	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCGCTCGCGGTTGCCGT	0.667																																					p.R4050R		Atlas-SNP	.											TNXB_ENST00000375247,NS,carcinoma,-2,3	TNXB	553	3	0			c.C12150G						scavenged	.						48	40	43					6																	32010286		1511	2709	4220	SO:0001819	synonymous_variant	7148	exon40			CCGCTCGCGGTTG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12156C>G	6.37:g.32010286G>C		Somatic	326	108	0.331288		WXS	Illumina HiSeq	Phase_I	343	120	0.349854	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				G|0.980;C|0.020	0.020	strong		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		C	32010286	G	C	32010286	2	2	14	1	0	0	0	0	0	0	0	1	16343	1074	38	4		4	TNXB	6	32010286	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2580371	32010286	139104781	90	3417										
TNXB	7148	hgsc.bcm.edu	37	chr6	32021402	32021402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcaggggtggcatctgtcaCggtcagctccccgaggcgag	16	12	4	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:32021402C>T	ENST00000375244.3	-	25	8755	c.8554G>A	c.(8554-8556)Gtg>Atg	p.V2852M	TNXB_ENST00000375247.2_Missense_Mutation_p.V2850M			P22105	TENX_HUMAN	tenascin XB	2899	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V2852M(1)|p.V2928M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCATCTGTCACGGTCAGCTCC	0.632																																					p.V2850M		Atlas-SNP	.											TNXB_ENST00000375247,NS,carcinoma,0,2	TNXB	553	2	2	Substitution - Missense(2)	lung(2)	c.G8548A						scavenged	.						76	87	83					6																	32021402		1327	2582	3909	SO:0001583	missense	7148	exon25			CTGTCACGGTCAG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8554G>A	6.37:g.32021402C>T	ENSP00000364393:p.Val2852Met	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	193	2	0.0103627	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	c	13.97	2.397061	0.42512	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61158	0.13;0.13	4.38	4.38	0.52667	.	.	.	.	.	T	0.78547	0.4300	H	0.95982	3.75	0.28037	N	0.933906	D	0.89917	1.0	D	0.91635	0.999	T	0.75013	-0.3467	9	0.66056	D	0.02	.	13.8698	0.63612	0.0:1.0:0.0:0.0	.	2850	P22105-3	.	M	2852;2850	ENSP00000364393:V2852M;ENSP00000364396:V2850M	ENSP00000364393:V2852M	V	-	1	0	TNXB	32129380	0.227000	0.23707	0.514000	0.27761	0.139000	0.21198	1.178000	0.31981	1.985000	0.57927	0.536000	0.68110	GTG	.	.	none		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32021402	C	T	32021402	3	4	14	1	0	0	0	0	1	0	0	0	16343	536	19	1	6245	1	TNXB	6	32021402	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	11116	32021402	139093665	91	3418										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32497975	32497975	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcagctttgccatgtaggaAcctccagggagcttcagaca	11	11	2	1	rs114195860	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:32497975A>G	ENST00000374975.3	-	1	89	c.27T>C	c.(25-27)ggT>ggC	p.G9G		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCATGTAGGAACCTCCAGGGA	0.582																																					p.G9G		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,0,1	HLA-DRB5	31	1	0			c.T27C						scavenged	.						58	65	63					6																	32497975		2198	4282	6480	SO:0001819	synonymous_variant	3127	exon1			GTAGGAACCTCCA		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.27T>C	6.37:g.32497975A>G		Somatic	37	36	0.972973		WXS	Illumina HiSeq	Phase_I	67	65	0.970149	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			A|0.546;G|0.454	0.454	strong		0.582	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32497975	A	G	32497975	2	3	14	1	0	0	0	0	0	0	0	1	7209	30	2	2		2	HLA-DRB5	6	32497975	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	476573	32497975	138617092	92	3419										
HLA-DQB1	3119	hgsc.bcm.edu	37	chr6	32634341	32634341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcatcaaggtgacagttgctAcccgaaggtctccggggatc	13	11	2	1	rs3189152	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:32634341A>G	ENST00000399082.3	-	1	88	c.44T>C	c.(43-45)gTa>gCa	p.V15A	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.V15A			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	15			A -> V (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs3189152). {ECO:0000269|PubMed:3584986}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GACAGTTGCTACCCGAAGGTC	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				a|||	1916	0.382588	0.3646	0.3487	5008	,	,		10661	0.3661		0.3549	False		,,,				2504	0.4765				p.V15A	Esophageal Squamous(151;720 1825 15000 40336 43415)	Atlas-SNP	.											HLA-DQB1,NS,carcinoma,0,1	HLA-DQB1	15	1	0			c.T44C						scavenged	.	G	ALA/VAL	1086,2800		255,576,1112	53	51	52		44	-0.2	0	6	dbSNP_105	52	2480,5732		644,1192,2270	yes	missense	HLA-DQB1	NM_002123.4	64	899,1768,3382	GG,GA,AA		30.1997,27.9465,29.4759	benign	15/262	32634341	3566,8532	1943	4106	6049	SO:0001583	missense	3119	exon1	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	GTTGCTACCCGAA		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.44T>C	6.37:g.32634341A>G	ENSP00000382032:p.Val15Ala	Somatic	6	6	1		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		634	0.2902930402930403	133	0.2703252032520325	113	0.31215469613259667	187	0.3269230769230769	201	0.26517150395778366	.	0.440	-0.899235	0.02472	0.279465	0.301997	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03496	3.91;8.45;8.45;8.45;8.45	4.07	-0.196	0.13232	.	536.546000	0.00447	N	0.000082	T	0.00906	0.0030	.	.	.	0.80722	P	0.0	B;B;B;B	0.14438	0.01;0.0;0.0;0.0	B;B;B;B	0.11329	0.006;0.0;0.0;0.0	T	0.47394	-0.9121	8	0.45353	T	0.12	.	2.9773	0.05942	0.1685:0.2496:0.4568:0.125	rs3189152;rs9274520	25;15;15;15	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	A	15	ENSP00000382032:V15A;ENSP00000382029:V15A;ENSP00000364080:V15A;ENSP00000407332:V15A;ENSP00000382034:V15A	ENSP00000364080:V15A	V	-	2	0	HLA-DQB1	32742319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.498000	0.06632	-3.953000	0.00015	GTA	A|0.710;G|0.290	0.290	strong		0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		G	32634341	A	G	32634341	3	3	14	1	0	0	0	0	1	0	0	0	7206	391	14	2	761	2	HLA-DQB1	6	32634341	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	136366	32634341	138480726	93	3420										
TREML2	79865	hgsc.bcm.edu	37	chr6	41166098	41166098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggtttttgtagcccttatagGagcactgcacagacagagtc	11	9	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:41166098G>A	ENST00000483722.1	-	2	310	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	42	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCTTATAGGAGCACTGCAC	0.512																																					p.S42F		Atlas-SNP	.											TREML2,colon,carcinoma,0,1	TREML2	41	1	0			c.C125T						PASS	.						155	164	161					6																	41166098		2203	4300	6503	SO:0001583	missense	79865	exon2			TTATAGGAGCACT	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.125C>T	6.37:g.41166098G>A	ENSP00000418767:p.Ser42Phe	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	93	6	0.0645161	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.82	2.351464	0.41700	.	.	ENSG00000112195	ENST00000483722	T	0.64803	-0.12	4.75	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.487586	0.17816	N	0.161037	T	0.59224	0.2178	L	0.43757	1.38	0.32993	D	0.525191	D	0.76494	0.999	D	0.72982	0.979	T	0.60682	-0.7215	10	0.48119	T	0.1	-10.0883	10.3616	0.43998	0.0:0.0:0.8036:0.1964	.	42	Q5T2D2	TRML2_HUMAN	F	42	ENSP00000418767:S42F	ENSP00000418767:S42F	S	-	2	0	TREML2	41274076	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	0.753000	0.26376	1.079000	0.41038	0.563000	0.77884	TCC	.	.	none		0.512	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166098	G	A	41166098	3	1	14	1	0	0	0	0	1	0	0	0	16470	1174	41	2	856	2	TREML2	6	41166098	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	8531757	41166098	129948969	94	3421										
TREML2	79865	hgsc.bcm.edu	37	chr6	41166123	41166123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgcacagacagagtctcccCttcaaggagcctcacttttg	8	14	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:41166123C>T	ENST00000483722.1	-	2	285	c.100G>A	c.(100-102)Ggg>Agg	p.G34R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	34	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGTCTCCCCTTCAAGGAGC	0.493																																					p.G34R		Atlas-SNP	.											.	TREML2	41	.	0			c.G100A						PASS	.						127	130	129					6																	41166123		2203	4300	6503	SO:0001583	missense	79865	exon2			TCTCCCCTTCAAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.100G>A	6.37:g.41166123C>T	ENSP00000418767:p.Gly34Arg	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	100	6	0.06	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581804	0.46006	.	.	ENSG00000112195	ENST00000483722	D	0.81499	-1.5	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.86623	0.5977	M	0.75085	2.285	0.40423	D	0.979861	D	0.89917	1.0	D	0.97110	1.0	D	0.88269	0.2928	10	0.72032	D	0.01	-23.1011	13.6225	0.62144	0.0:1.0:0.0:0.0	.	34	Q5T2D2	TRML2_HUMAN	R	34	ENSP00000418767:G34R	ENSP00000418767:G34R	G	-	1	0	TREML2	41274101	1.000000	0.71417	0.998000	0.56505	0.028000	0.11728	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	GGG	.	.	none		0.493	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166123	C	T	41166123	3	4	14	1	0	0	0	0	1	0	0	0	16470	681	24	2	881	2	TREML2	6	41166123	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	25	41166123	129948944	95	3422										
FOXP4	116113	hgsc.bcm.edu	37	chr6	41557528	41557528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctcgccaaggagagcgagcGgctgcaggccatgatggccc	16	13	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:41557528G>A	ENST00000307972.4	+	9	1097	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	FOXP4_ENST00000373057.3_Missense_Mutation_p.R360Q|FOXP4_ENST00000409208.1_Missense_Mutation_p.R362Q|FOXP4_ENST00000373060.1_Missense_Mutation_p.R362Q|FOXP4_ENST00000373063.3_Missense_Mutation_p.R361Q			Q8IVH2	FOXP4_HUMAN	forkhead box P4	362	Leucine-zipper.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GAGAGCGAGCGGCTGCAGGCC	0.692											OREG0004066	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R362Q		Atlas-SNP	.											.	FOXP4	83	.	0			c.G1085A						PASS	.						34	37	36					6																	41557528		2202	4298	6500	SO:0001583	missense	116113	exon10			GCGAGCGGCTGCA	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1085G>A	6.37:g.41557528G>A	ENSP00000309823:p.Arg362Gln	Somatic	70	0	0	902	WXS	Illumina HiSeq	Phase_I	107	35	0.327103	NM_001012426	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615982	0.87359	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.32734	0.0839	M	0.74258	2.255	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.987	P;P;P	0.56563	0.801;0.801;0.701	T	0.32052	-0.9921	10	0.87932	D	0	.	17.2142	0.86938	0.0:0.0:1.0:0.0	.	361;360;362	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	Q	362;361;362;360;362	ENSP00000362151:R362Q;ENSP00000362154:R361Q;ENSP00000386958:R362Q;ENSP00000362148:R360Q;ENSP00000309823:R362Q	ENSP00000309823:R362Q	R	+	2	0	FOXP4	41665506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.688000	0.61715	2.072000	0.62099	0.305000	0.20034	CGG	.	.	none		0.692	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		A	41557528	G	A	41557528	3	1	14	1	0	0	0	0	1	0	0	0	6029	1116	39	1	1119	1	FOXP4	6	41557528	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	391405	41557528	129557539	96	3423										
MEA1	4201	hgsc.bcm.edu	37	chr6	42981024	42981024	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgctccaatccccagtgccTtctgaagggccctgatgtcc	9	16	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:42981024T>C	ENST00000244711.3	-	2	286	c.132A>G	c.(130-132)gaA>gaG	p.E44E	KLHDC3_ENST00000244670.8_5'Flank|KLHDC3_ENST00000326974.4_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	44					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCCAGTGCCTTCTGAAGGGC	0.597																																					p.E44E		Atlas-SNP	.											MEA1,NS,carcinoma,-2,1	MEA1	11	1	0			c.A132G						scavenged	.						107	111	110					6																	42981024		2203	4300	6503	SO:0001819	synonymous_variant	4201	exon2			AGTGCCTTCTGAA		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"male-enhanced antigen"	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.132A>G	6.37:g.42981024T>C		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_014623	Q5TC36|Q9BV01	Silent	SNP	ENST00000244711.3	37	CCDS4879.1																																																																																			.	.	none		0.597	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			C	42981024	T	C	42981024	2	2	14	1	0	0	0	0	0	0	0	1	9420	1606	56	3		3	MEA1	6	42981024	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	1423496	42981024	128134043	97	3424										
CUL7	9820	hgsc.bcm.edu	37	chr6	43007981	43007981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttcagtgtgtggcagattgAggcaacaggccaggagtgtc	16	7	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:43007981A>G	ENST00000265348.3	-	22	4292	c.4207T>C	c.(4207-4209)Tca>Cca	p.S1403P	CUL7_ENST00000535468.1_Missense_Mutation_p.S1487P			Q14999	CUL7_HUMAN	cullin 7	1403					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGCAGATTGAGGCAACAGGC	0.552																																					p.S1487P		Atlas-SNP	.											.	CUL7	133	.	0			c.T4459C						PASS	.						163	123	136					6																	43007981		2203	4300	6503	SO:0001583	missense	9820	exon22			AGATTGAGGCAAC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4207T>C	6.37:g.43007981A>G	ENSP00000265348:p.Ser1403Pro	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	123	5	0.0406504	NM_001168370	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438588	0.25900	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79653	-1.29;-1.29	5.71	4.58	0.56647	Cullin, N-terminal (1);Cullin homology (2);	0.242102	0.45126	D	0.000398	T	0.45895	0.1365	N	0.25286	0.73	0.44117	D	0.996898	B;B;B;B	0.33171	0.05;0.061;0.031;0.4	B;B;B;B	0.37833	0.019;0.032;0.017;0.259	T	0.55134	-0.8188	10	0.02654	T	1	-1.3666	5.3129	0.15841	0.8032:0.0:0.1968:0.0	.	1487;1403;1487;1403	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	P	1403;1487	ENSP00000265348:S1403P;ENSP00000438788:S1487P	ENSP00000265348:S1403P	S	-	1	0	CUL7	43115959	0.997000	0.39634	0.953000	0.39169	0.828000	0.46876	1.426000	0.34870	2.179000	0.69175	0.459000	0.35465	TCA	.	.	none		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		G	43007981	A	G	43007981	3	3	14	1	0	0	0	0	1	0	0	0	4060	304	11	3	909	3	CUL7	6	43007981	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	26957	43007981	128107086	98	3425										
TDRD6	221400	hgsc.bcm.edu	37	chr6	46656149	46656149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccggcaggcacaggagagccGtgtcttcctgctggacgagg	16	12	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:46656149G>A	ENST00000316081.6	+	1	284	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R95H|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	95	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAGGAGAGCCGTGTCTTCCTG	0.701																																					p.R95H		Atlas-SNP	.											.	TDRD6	205	.	0			c.G284A						PASS	.						6	8	7					6																	46656149		2017	3951	5968	SO:0001583	missense	221400	exon1			AGAGCCGTGTCTT	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.284G>A	6.37:g.46656149G>A	ENSP00000346065:p.Arg95His	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	23	12	0.521739	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289084	0.59976	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09723	2.95;2.95	5.31	5.31	0.75309	Maternal tudor protein (1);Tudor domain (1);	0.869952	0.10294	N	0.692000	T	0.19366	0.0465	L	0.56769	1.78	0.29552	N	0.851296	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.02411	-1.1163	10	0.51188	T	0.08	-5.4554	13.8844	0.63699	0.0:0.0:0.8474:0.1525	.	95;95	F5H5M3;O60522	.;TDRD6_HUMAN	H	95	ENSP00000443299:R95H;ENSP00000346065:R95H	ENSP00000346065:R95H	R	+	2	0	TDRD6	46764108	0.940000	0.31905	1.000000	0.80357	0.978000	0.69477	1.391000	0.34475	2.482000	0.83794	0.563000	0.77884	CGT	.	.	none		0.701	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		A	46656149	G	A	46656149	3	1	14	1	0	0	0	0	1	0	0	0	15731	1145	40	1	286	1	TDRD6	6	46656149	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	3648168	46656149	124458918	99	3426										
GSTA2	2939	hgsc.bcm.edu	37	chr6	52616491	52616491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gccaacaaggtagtcttgtcCgtggctctttaagacctgga	11	10	2	1	rs377008730		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:52616491C>T	ENST00000493422.1	-	6	585	c.430G>A	c.(430-432)Gga>Aga	p.G144R		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	144	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.G144R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TAGTCTTGTCCGTGGCTCTTT	0.532																																					p.G144R		Atlas-SNP	.											GSTA2,trunk,malignant_melanoma,0,2	GSTA2	33	2	2	Substitution - Missense(2)	skin(2)	c.G430A						scavenged	.						137	122	127					6																	52616491		2203	4300	6503	SO:0001583	missense	2939	exon6			CTTGTCCGTGGCT	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.430G>A	6.37:g.52616491C>T	ENSP00000420168:p.Gly144Arg	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	139	3	0.0215827	NM_000846	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612815	0.28712	.	.	ENSG00000244067	ENST00000493422	T	0.14640	2.49	2.88	1.97	0.26223	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.146928	0.44097	D	0.000493	T	0.08447	0.0210	M	0.78801	2.425	0.30500	N	0.77048	B	0.32283	0.362	B	0.36885	0.235	T	0.06092	-1.0846	10	0.59425	D	0.04	.	8.0615	0.30635	0.0:0.8677:0.0:0.1323	.	144	P09210	GSTA2_HUMAN	R	144	ENSP00000420168:G144R	ENSP00000420168:G144R	G	-	1	0	GSTA2	52724450	0.783000	0.28701	0.913000	0.36048	0.615000	0.37417	2.533000	0.45667	0.524000	0.28502	0.485000	0.47835	GGA	.	.	weak		0.532	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		T	52616491	C	T	52616491	3	4	14	1	0	0	0	0	1	0	0	0	6831	661	23	1	246	1	GSTA2	6	52616491	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5960342	52616491	118498576	100	3427										
DST	667	hgsc.bcm.edu	37	chr6	56335907	56335907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctgtcttggaacttacttgAggaaagaattccatcaataa	7	7	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:56335907A>G	ENST00000361203.3	-	90	21365	c.21358T>C	c.(21358-21360)Tca>Cca	p.S7120P	DST_ENST00000370788.2_Missense_Mutation_p.S5034P|DST_ENST00000370769.4_Missense_Mutation_p.S7231P|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S4817P|DST_ENST00000370754.5_Missense_Mutation_p.S7409P|DST_ENST00000446842.2_Missense_Mutation_p.S6905P|DST_ENST00000421834.2_Missense_Mutation_p.S5116P			Q03001	DYST_HUMAN	dystonin	7229					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTACTTGAGGAAAGAATT	0.358																																					p.S4817P		Atlas-SNP	.											DST_ENST00000370769,NS,carcinoma,+1,2	DST	1427	2	0			c.T14449C						scavenged	.						60	57	58					6																	56335907		1829	4102	5931	SO:0001583	missense	667	exon76			TACTTGAGGAAAG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21358T>C	6.37:g.56335907A>G	ENSP00000354508:p.Ser7120Pro	Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.115009	0.77210	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	6.02	6.02	0.97574	EF-hand-like domain (1);	0.000000	0.45867	D	0.000330	T	0.17831	0.0428	L	0.55990	1.75	0.35650	D	0.811676	D;D;D;D;D	0.89917	0.999;0.999;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.995;0.999;0.996	T	0.00643	-1.1630	9	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	5116;7231;7409;7229;4817	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	4817;7409;7231;5116;6905;5034;7120	ENSP00000244364:S4817P;ENSP00000359790:S7409P;ENSP00000359805:S7231P;ENSP00000400883:S5116P;ENSP00000393645:S6905P;ENSP00000359824:S5034P;ENSP00000354508:S7120P	ENSP00000244364:S4817P	S	-	1	0	DST	56443866	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	TCA	.	.	none		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56335907	A	G	56335907	3	3	14	1	0	0	0	0	1	0	0	0	4783	304	11	3	1102	3	DST	6	56335907	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	3719416	56335907	114779160	101	3428										
CD109	135228	hgsc.bcm.edu	37	chr6	74524771	74524771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aagatctatccaaaatcaagAagcctttgatttagatgttg	7	6	2	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:74524771A>G	ENST00000287097.5	+	30	3948	c.3836A>G	c.(3835-3837)gAa>gGa	p.E1279G	CD109_ENST00000422508.2_Missense_Mutation_p.E1202G|CD109_ENST00000437994.2_Missense_Mutation_p.E1262G			Q6YHK3	CD109_HUMAN	CD109 molecule	1279					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAAATCAAGAAGCCTTTGAT	0.333																																					p.E1279G		Atlas-SNP	.											CD109,colon,carcinoma,+1,1	CD109	170	1	0			c.A3836G						scavenged	.						104	103	103					6																	74524771		2203	4299	6502	SO:0001583	missense	135228	exon30			ATCAAGAAGCCTT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3836A>G	6.37:g.74524771A>G	ENSP00000287097:p.Glu1279Gly	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	2	0.0277778	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.209498	0.39003	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30714	1.52;1.52;1.52	5.45	5.45	0.79879	Alpha-macroglobulin, receptor-binding (2);	0.101090	0.64402	D	0.000002	T	0.26195	0.0639	L	0.59436	1.845	0.42587	D	0.99323	P;B;B	0.37864	0.61;0.016;0.005	B;B;B	0.42138	0.377;0.028;0.013	T	0.05550	-1.0878	10	0.52906	T	0.07	.	15.6734	0.77295	1.0:0.0:0.0:0.0	.	1202;1262;1279	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	G	1262;1202;1279	ENSP00000388062:E1262G;ENSP00000404475:E1202G;ENSP00000287097:E1279G	ENSP00000287097:E1279G	E	+	2	0	CD109	74581492	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	5.217000	0.65252	2.289000	0.77006	0.477000	0.44152	GAA	.	.	none		0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74524771	A	G	74524771	3	3	14	1	0	0	0	0	1	0	0	0	2963	246	9	2	3954	2	CD109	6	74524771	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	18188864	74524771	96590296	102	3429										
EPHA7	2045	hgsc.bcm.edu	37	chr6	94120454	94120454	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagcacttcttgtagtacacTttgacagaaaccaaagctat	6	10	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:94120454T>G	ENST00000369303.4	-	3	781	c.597A>C	c.(595-597)aaA>aaC	p.K199N	EPHA7_ENST00000369297.1_Missense_Mutation_p.K199N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	199	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTAGTACACTTTGACAGAAA	0.428																																					p.K199N		Atlas-SNP	.											.	EPHA7	251	.	0			c.A597C						PASS	.						81	85	84					6																	94120454		2203	4300	6503	SO:0001583	missense	2045	exon3			GTACACTTTGACA	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.597A>C	6.37:g.94120454T>G	ENSP00000358309:p.Lys199Asn	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	178	78	0.438202	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458621	0.63401	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.04317	3.65;3.65	5.66	3.26	0.37387	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.06005	0.0156	L	0.61036	1.89	0.52099	D	0.999943	P;D;D;D	0.63880	0.728;0.993;0.96;0.967	B;P;P;P	0.53224	0.277;0.596;0.6;0.721	T	0.10474	-1.0628	10	0.87932	D	0	.	10.4747	0.44657	0.0:0.1379:0.0:0.8621	.	199;199;199;199	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	199	ENSP00000358309:K199N;ENSP00000358303:K199N	ENSP00000358303:K199N	K	-	3	2	EPHA7	94177175	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.685000	0.37659	1.090000	0.41315	0.533000	0.62120	AAA	.	.	none		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			G	94120454	T	G	94120454	3	3	14	1	0	0	0	0	1	0	0	0	5172	1606	56	5	2459	5	EPHA7	6	94120454	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	19595683	94120454	76994613	103	3430										
MANEA	79694	hgsc.bcm.edu	37	chr6	96053987	96053987	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggatacatagataccagcatCcgtccatggaacacgcaaaa	8	11	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:96053987C>T	ENST00000358812.4	+	5	1229	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	365	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATACCAGCATCCGTCCATGGA	0.423																																					p.I365I		Atlas-SNP	.											.	MANEA	58	.	0			c.C1095T						PASS	.						99	107	104					6																	96053987		2203	4300	6503	SO:0001819	synonymous_variant	79694	exon5			CAGCATCCGTCCA	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1095C>T	6.37:g.96053987C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	50	28	0.56	NM_024641	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	CCDS5032.1																																																																																			.	.	none		0.423	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		T	96053987	C	T	96053987	2	4	14	1	0	0	0	0	0	0	0	1	9221	845	30	2		2	MANEA	6	96053987	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1933533	96053987	75061080	104	3431										
ENPP3	5169	hgsc.bcm.edu	37	chr6	132043370	132043370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	attttttcaaaaaacagatcTtctacgcattcaaccagcac	3	11	4	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:132043370T>C	ENST00000414305.1	+	19	1899	c.1571T>C	c.(1570-1572)cTt>cCt	p.L524P	ENPP3_ENST00000357639.3_Missense_Mutation_p.L524P|ENPP3_ENST00000358229.5_Missense_Mutation_p.L524P			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	524					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAAACAGATCTTCTACGCATT	0.418																																					p.L524P		Atlas-SNP	.											ENPP3,NS,carcinoma,+1,1	ENPP3	117	1	0			c.T1571C						scavenged	.						105	96	99					6																	132043370		2203	4300	6503	SO:0001583	missense	5169	exon18			CAGATCTTCTACG	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1571T>C	6.37:g.132043370T>C	ENSP00000406261:p.Leu524Pro	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	112	3	0.0267857	NM_005021	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027371	0.75390	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.80566	-1.39;-1.39;-1.39	5.64	5.64	0.86602	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095606	0.43919	D	0.000501	D	0.91382	0.7281	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.93673	0.6992	10	0.87932	D	0	-24.1597	15.8281	0.78730	0.0:0.0:0.0:1.0	.	524	O14638	ENPP3_HUMAN	P	524	ENSP00000406261:L524P;ENSP00000350265:L524P;ENSP00000350964:L524P	ENSP00000350265:L524P	L	+	2	0	ENPP3	132085063	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.441000	0.73439	2.279000	0.76181	0.528000	0.53228	CTT	.	.	none		0.418	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			C	132043370	T	C	132043370	3	2	14	1	0	0	0	0	1	0	0	0	5131	1609	56	3	1641	3	ENPP3	6	132043370	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	35989383	132043370	39071697	105	3432										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138531058	138531058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctttacagaagcttctgtcGgaagagaggtttgtatccat	10	7	2	2	rs138636575		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:138531058G>A	ENST00000251691.4	+	4	397	c.231G>A	c.(229-231)tcG>tcA	p.S77S		NM_020340.4	NP_065073.3			KIAA1244									p.S6S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCTTCTGTCGGAAGAGAGGT	0.458																																					p.S77S		Atlas-SNP	.											KIAA1244,NS,carcinoma,0,1	KIAA1244	236	1	1	Substitution - coding silent(1)	lung(1)	c.G231A						scavenged	.	G		1,4405	2.1+/-5.4	0,1,2202	139	133	135		231	-11.1	0.3	6	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1244	NM_020340.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		77/2178	138531058	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57221	exon4			TCTGTCGGAAGAG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.231G>A	6.37:g.138531058G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	174	4	0.0229885	NM_020340		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			G|1.000;A|0.000	0.000	weak		0.458	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138531058	G	A	138531058	2	1	14	1	0	0	0	0	0	0	0	1	8217	1103	39	1		1	KIAA1244	6	138531058	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6487688	138531058	32584009	106	3433										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138583857	138583857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcatcatggatggcatgaccGaagcatgcatcaagggtggc	14	9	2	1	rs149573553	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:138583857G>A	ENST00000251691.4	+	12	1403	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGCATGACCGAAGCATGCAT	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		23811	0.002		0.0	False		,,,				2504	0.0				p.E413K		Atlas-SNP	.											.	KIAA1244	236	.	0			c.G1237A						PASS	.						110	104	106					6																	138583857		2203	4300	6503	SO:0001583	missense	57221	exon12			ATGACCGAAGCAT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1237G>A	6.37:g.138583857G>A	ENSP00000251691:p.Glu413Lys	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	49	0.385827	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	22.9	4.348964	0.82132	.	.	ENSG00000112379	ENST00000251691	T	0.04275	3.66	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	M	0.73962	2.25	0.58432	D	0.999992	D	0.67145	0.996	P	0.50570	0.644	T	0.01178	-1.1427	10	0.72032	D	0.01	-13.0813	18.2897	0.90126	0.0:0.0:1.0:0.0	.	413	Q5TH69	BIG3_HUMAN	K	413	ENSP00000251691:E413K	ENSP00000251691:E413K	E	+	1	0	KIAA1244	138625550	1.000000	0.71417	0.709000	0.30452	0.865000	0.49528	7.342000	0.79310	2.745000	0.94114	0.655000	0.94253	GAA	G|0.999;A|0.001	0.001	strong		0.473	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138583857	G	A	138583857	3	1	14	1	0	0	0	0	1	0	0	0	8217	1059	37	1	1283	1	KIAA1244	6	138583857	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	52799	138583857	32531210	107	3434										
PHACTR2	9749	hgsc.bcm.edu	37	chr6	144104401	144104401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agcaaaaatggaacttaaacGcagactcagcagaaaggtaa	9	7	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:144104401G>A	ENST00000427704.2	+	10	1788	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	PHACTR2_ENST00000305766.6_Missense_Mutation_p.R473H|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R564H|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R541H|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R484H	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	553							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAACTTAAACGCAGACTCAGC	0.299																																					p.R564H	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	Atlas-SNP	.											PHACTR2_ENST00000440869,colon,carcinoma,+1,2	PHACTR2	99	2	0			c.G1691A						scavenged	.						68	68	68					6																	144104401		1962	4142	6104	SO:0001583	missense	9749	exon10			TTAAACGCAGACT	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1658G>A	6.37:g.144104401G>A	ENSP00000391763:p.Arg553His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	132	2	0.0151515	NM_001100164	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353550	0.95830	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.36520	1.25;1.66;1.27;1.66;1.27	6.16	6.16	0.99307	.	0.092126	0.85682	D	0.000000	T	0.60077	0.2241	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.965;0.999;0.999;0.988	T	0.60742	-0.7203	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	564;473;484;553	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	H	541;553;473;564;484	ENSP00000356556:R541H;ENSP00000391763:R553H;ENSP00000305530:R473H;ENSP00000417038:R564H;ENSP00000356554:R484H	ENSP00000305530:R473H	R	+	2	0	PHACTR2	144146094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.988000	0.93501	2.937000	0.99478	0.650000	0.86243	CGC	.	.	none		0.299	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		A	144104401	G	A	144104401	3	1	14	1	0	0	0	0	1	0	0	0	11810	1087	38	1	1746	1	PHACTR2	6	144104401	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	5520544	144104401	27010666	108	3435										
SHPRH	257218	hgsc.bcm.edu	37	chr6	146215303	146215303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tacctgaaatgtcttaacacGactgatttgtgcaaattcca	6	9	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:146215303G>A	ENST00000367505.2	-	27	4942	c.4678C>T	c.(4678-4680)Cgt>Tgt	p.R1560C	SHPRH_ENST00000438092.2_Missense_Mutation_p.R1564C|SHPRH_ENST00000367503.3_Missense_Mutation_p.R1564C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1560C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1560	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTCTTAACACGACTGATTTGT	0.308																																					p.R1564C		Atlas-SNP	.											SHPRH_ENST00000367505,NS,carcinoma,+1,3	SHPRH	169	3	0			c.C4690T						scavenged	.						116	108	111					6																	146215303		1835	4097	5932	SO:0001583	missense	257218	exon27			TAACACGACTGAT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4678C>T	6.37:g.146215303G>A	ENSP00000356475:p.Arg1560Cys	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	81	2	0.0246914	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759830	0.69763	.	.	ENSG00000146414	ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.46	4.54	0.55810	Helicase, C-terminal (2);	0.073245	0.53938	D	0.000048	T	0.64216	0.2578	N	0.14661	0.345	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	P;P	0.60682	0.878;0.72	T	0.70037	-0.4982	10	0.56958	D	0.05	-17.4466	11.7616	0.51908	0.0:0.2721:0.7279:0.0	.	1560;1564	Q149N8;Q149N8-4	SHPRH_HUMAN;.	C	8;1560;1564;1564;1560	ENSP00000356475:R1560C;ENSP00000356473:R1564C;ENSP00000412797:R1564C;ENSP00000275233:R1560C	ENSP00000275233:R1560C	R	-	1	0	SHPRH	146256996	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.241000	0.72369	2.710000	0.92621	0.585000	0.79938	CGT	.	.	none		0.308	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		A	146215303	G	A	146215303	3	1	14	1	0	0	0	0	1	0	0	0	14291	1058	37	1	406	1	SHPRH	6	146215303	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2110902	146215303	24899764	109	3436										
STXBP5	134957	hgsc.bcm.edu	37	chr6	147612247	147612247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	taggaaaacagttaaaggatGggaagaagccagaaccatgc	12	6	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:147612247G>T	ENST00000321680.6	+	9	856	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	STXBP5_ENST00000546097.1_Missense_Mutation_p.G286W|STXBP5_ENST00000367481.3_Missense_Mutation_p.G286W|STXBP5_ENST00000367480.3_Missense_Mutation_p.G286W|STXBP5_ENST00000179882.6_5'UTR	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	286					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTAAAGGATGGGAAGAAGCC	0.308																																					p.G286W		Atlas-SNP	.											.	STXBP5	163	.	0			c.G856T						PASS	.						93	89	90					6																	147612247		2203	4300	6503	SO:0001583	missense	134957	exon9			AAGGATGGGAAGA	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.856G>T	6.37:g.147612247G>T	ENSP00000321826:p.Gly286Trp	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_139244	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511125	0.85389	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;D;T;T	0.86366	2.45;-2.11;2.44;2.56	5.35	5.35	0.76521	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92395	0.5924	10	0.72032	D	0.01	.	19.0338	0.92969	0.0:0.0:1.0:0.0	.	286;286	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	W	286	ENSP00000356451:G286W;ENSP00000441479:G286W;ENSP00000321826:G286W;ENSP00000356450:G286W	ENSP00000321826:G286W	G	+	1	0	STXBP5	147653940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.580000	0.90784	2.656000	0.90262	0.650000	0.86243	GGG	.	.	none		0.308	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			T	147612247	G	T	147612247	3	4	14	1	0	0	0	0	1	0	0	0	15355	1348	47	4	890	4	STXBP5	6	147612247	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1396944	147612247	23502820	110	3437										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152651974	152651974	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagcgtaagtagaagattttCatattctggagattgttcaa	9	5	3	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:152651974C>T	ENST00000367255.5	-	78	14447	c.13846G>A	c.(13846-13848)Gaa>Aaa	p.E4616K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E4363K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4545K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4545K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4616K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4616					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAAGATTTTCATATTCTGGA	0.383										HNSCC(10;0.0054)																											p.E4616K		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G13846A						PASS	.						164	166	165					6																	152651974		2203	4300	6503	SO:0001583	missense	23345	exon78			GATTTTCATATTC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13846G>A	6.37:g.152651974C>T	ENSP00000356224:p.Glu4616Lys	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815534	0.70912	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53857	1.33;1.33;1.33;1.33;0.6	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000004	T	0.64832	0.2634	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.999	T	0.59434	-0.7455	10	0.41790	T	0.15	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	4616;4616;4616;4545	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4616;4545;4616;4545;4363	ENSP00000356224:E4616K;ENSP00000396024:E4545K;ENSP00000265368:E4616K;ENSP00000390975:E4545K;ENSP00000341887:E4363K	ENSP00000265368:E4616K	E	-	1	0	SYNE1	152693667	1.000000	0.71417	0.951000	0.38953	0.909000	0.53808	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GAA	.	.	none		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152651974	C	T	152651974	3	4	14	1	0	0	0	0	1	0	0	0	15442	835	29	2	12896	2	SYNE1	6	152651974	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5039727	152651974	18463093	111	3438										
MAS1	4142	hgsc.bcm.edu	37	chr6	160328730	160328730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tatgcccatgagactcctttAcctgctgtactatgagtatt	7	10	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:160328730A>G	ENST00000252660.4	+	1	757	c.743A>G	c.(742-744)tAc>tGc	p.Y248C		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	248					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AGACTCCTTTACCTGCTGTAC	0.463																																					p.Y248C		Atlas-SNP	.											MAS1,right_upper_lobe,carcinoma,-1,1	MAS1	42	1	0			c.A743G						scavenged	.						130	119	122					6																	160328730		2203	4300	6503	SO:0001583	missense	4142	exon1			TCCTTTACCTGCT	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.743A>G	6.37:g.160328730A>G	ENSP00000252660:p.Tyr248Cys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	196	3	0.0153061	NM_002377	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959542	0.53400	.	.	ENSG00000130368	ENST00000252660	T	0.37915	1.17	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000179	T	0.35219	0.0924	L	0.41824	1.3	0.41973	D	0.990767	D	0.62365	0.991	D	0.67382	0.951	T	0.20940	-1.0260	10	0.44086	T	0.13	.	9.7479	0.40457	0.8459:0.0:0.0:0.1541	.	248	P04201	MAS_HUMAN	C	248	ENSP00000252660:Y248C	ENSP00000252660:Y248C	Y	+	2	0	MAS1	160248720	0.979000	0.34478	0.978000	0.43139	0.946000	0.59487	2.850000	0.48294	1.986000	0.57962	0.533000	0.62120	TAC	.	.	none		0.463	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		G	160328730	A	G	160328730	3	3	14	1	0	0	0	0	1	0	0	0	9320	391	14	2	745	2	MAS1	6	160328730	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	7676756	160328730	10786337	112	3439										
T	6862	hgsc.bcm.edu	37	chr6	166578142	166578142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccgggttcctccatcatctcTttgtgatcacttctatcaaa	5	13	5	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:166578142T>C	ENST00000296946.2	-	6	1149	c.681A>G	c.(679-681)aaA>aaG	p.K227K	T_ENST00000366871.3_Silent_p.K227K	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	227					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCATCATCTCTTTGTGATCAC	0.388									Chordoma, Familial Clustering of																												p.K227K		Atlas-SNP	.											.	T	77	.	0			c.A681G						PASS	.						95	97	96					6																	166578142		2203	4300	6503	SO:0001819	synonymous_variant	6862	exon6	Familial Cancer Database		CATCTCTTTGTGA	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.681A>G	6.37:g.166578142T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_003181	E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	CCDS5290.1																																																																																			.	.	none		0.388	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		C	166578142	T	C	166578142	2	2	14	1	0	0	0	0	0	0	0	1	15485	1606	56	3		3	T	6	166578142	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	6249412	166578142	4536925	113	3440										
TBP	6908	hgsc.bcm.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagcagcagcagcagcagcaAcagcaacagcagcagcagca	11	14	0	0	rs71815788|rs55736770	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567																																					p.Q72Q		Atlas-SNP	.											.	TBP	58	.	3	Deletion - In frame(3)	ovary(1)|prostate(1)|breast(1)	c.A216G						PASS	.						12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908	exon3			GCAGCAACAGCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.216A>G	6.37:g.170871040A>G		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	52	16	0.307692	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			A|0.357;G|0.643	0.643	strong		0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		G	170871040	A	G	170871040	2	3	14	1	0	0	0	0	0	0	0	1	15641	40	2	2		2	TBP	6	170871040	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	4292898	170871040	244027	114	3441										
KIAA0415	9907	hgsc.bcm.edu	37	chr7	4823361	4823361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agcggctggtcgactggctgCgctacgccagcctccagcaa	13	15	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:4823361C>T	ENST00000348624.4	+	5	647	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	AP5Z1_ENST00000401897.1_Missense_Mutation_p.R185C	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	185					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CGACTGGCTGCGCTACGCCAG	0.657																																					p.R185C		Atlas-SNP	.											.	.	.	.	0			c.C553T						PASS	.						5	8	7					7																	4823361		1760	3730	5490	SO:0001583	missense	9907	exon5			TGGCTGCGCTACG	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.553C>T	7.37:g.4823361C>T	ENSP00000297562:p.Arg185Cys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_014855	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.50277	0.76;0.75	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71119	-0.4685	10	0.66056	D	0.02	.	11.8038	0.52143	0.1882:0.8118:0.0:0.0	.	185	O43299	K0415_HUMAN	C	185	ENSP00000297562:R185C;ENSP00000384980:R185C	ENSP00000297562:R185C	R	+	1	0	KIAA0415	4789887	0.929000	0.31497	0.969000	0.41365	0.255000	0.26057	1.781000	0.38644	1.983000	0.57843	0.462000	0.41574	CGC	.	.	none		0.657	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4823361	C	T	4823361	3	4	14	1	0	0	0	0	1	0	0	0	8175	768	27	1	571	1	KIAA0415	7	4823361	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		4823361	154315302	115	3442										
SNX13	23161	hgsc.bcm.edu	37	chr7	17874490	17874490	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagtaactcttggagatgccTaacagagaaaaataatagta	8	6	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:17874490T>C	ENST00000409389.1	-	14	1532		c.e14-2		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGGAGATGCCTAACAGAGAAA	0.299																																					.		Atlas-SNP	.											.	SNX13	113	.	0			c.1360-2A>G						PASS	.						41	40	40					7																	17874490		1805	4059	5864	SO:0001630	splice_region_variant	23161	exon15			GATGCCTAACAGA	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1360-2A>G	7.37:g.17874490T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	89	4	0.0449438	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	T	19.85	3.904370	0.72868	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.863	0.70394	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX13	17841015	1.000000	0.71417	0.951000	0.38953	0.887000	0.51463	5.681000	0.68175	1.979000	0.57680	0.402000	0.26972	.	.	.	none		0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	C	17874490	T	C	17874490	5	2	14	1	0	0	0	0	0	0	1	0	14884	1536	53	3	1567	3	SNX13	7	17874490	Splice_Site	SNP	T	TCGA-FF-8047-01A-11D-2210-10	13051129	17874490	141264173	116	3443										
TWISTNB	221830	hgsc.bcm.edu	37	chr7	19738329	19738329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctgtaacttcttcagaaacTtcagagcgcttgaattgtaa	7	8	4	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:19738329T>C	ENST00000222567.5	-	4	697	c.627A>G	c.(625-627)gaA>gaG	p.E209E		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	209					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTTCAGAAACTTCAGAGCGCT	0.323																																					p.E209E		Atlas-SNP	.											.	TWISTNB	63	.	0			c.A627G						PASS	.						53	61	59					7																	19738329		2199	4289	6488	SO:0001819	synonymous_variant	221830	exon4			AGAAACTTCAGAG	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.627A>G	7.37:g.19738329T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	49	24	0.489796	NM_001002926	A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	CCDS34606.1																																																																																			.	.	none		0.323	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			C	19738329	T	C	19738329	2	2	14	1	0	0	0	0	0	0	0	1	16781	1606	56	3		3	TWISTNB	7	19738329	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	1863839	19738329	139400334	117	3444										
FKBP9	11328	hgsc.bcm.edu	37	chr7	33014908	33014908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caagcccccgagttgccctcGgaccatccaggtgtctgatt	10	15	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:33014908G>A	ENST00000242209.4	+	3	651	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP9_ENST00000538443.1_Missense_Mutation_p.R23Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.R214Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	161					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGTTGCCCTCGGACCATCCAG	0.473																																					p.R161Q		Atlas-SNP	.											FKBP9,brain,glioma,0,9	FKBP9	335	9	0			c.G482A						scavenged	.						99	87	91					7																	33014908		2203	4300	6503	SO:0001583	missense	11328	exon3			GCCCTCGGACCAT	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.482G>A	7.37:g.33014908G>A	ENSP00000242209:p.Arg161Gln	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720086	0.89205	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	D;D;D	0.86164	-2.08;-2.08;-2.08	5.36	5.36	0.76844	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92752	0.6217	10	0.56958	D	0.05	-4.2611	19.0957	0.93249	0.0:0.0:1.0:0.0	.	214;161;161	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	Q	161;214;23	ENSP00000242209:R161Q;ENSP00000439250:R214Q;ENSP00000437504:R23Q	ENSP00000242209:R161Q	R	+	2	0	FKBP9	32981433	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	9.809000	0.99208	2.524000	0.85096	0.650000	0.86243	CGG	.	.	none		0.473	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33014908	G	A	33014908	3	1	14	1	0	0	0	0	1	0	0	0	5915	1116	39	1	492	1	FKBP9	7	33014908	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	13276579	33014908	126123755	118	3445										
BAZ1B	9031	hgsc.bcm.edu	37	chr7	72873950	72873950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggagttttcttctcttttgCttgggagccatgaagccttg	11	8	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:72873950C>T	ENST00000339594.4	-	13	3686	c.3348G>A	c.(3346-3348)aaG>aaA	p.K1116K	BAZ1B_ENST00000404251.1_Silent_p.K1116K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1116					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCTTTTGCTTGGGAGCCA	0.388																																					p.K1116K	Esophageal Squamous(112;1167 1561 21085 43672 48228)	Atlas-SNP	.											BAZ1B,NS,carcinoma,0,1	BAZ1B	147	1	0			c.G3348A						scavenged	.						156	150	152					7																	72873950		2203	4300	6503	SO:0001819	synonymous_variant	9031	exon13			CTTTTGCTTGGGA	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3348G>A	7.37:g.72873950C>T		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																			.	.	none		0.388	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		T	72873950	C	T	72873950	2	4	14	1	0	0	0	0	0	0	0	1	1330	796	28	2		2	BAZ1B	7	72873950	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	39859042	72873950	86264713	119	3446										
ZP3	7784	hgsc.bcm.edu	37	chr7	76058885	76058885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgctccatgacccccgcccCgtgggaaacctgtccatcgt	9	18	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:76058885C>T	ENST00000394857.3	+	2	424	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ZP3_ENST00000336517.4_Silent_p.P71P|ZP3_ENST00000416245.1_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	122	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACCCCCGCCCCGTGGGAAACC	0.612																																					p.P122P		Atlas-SNP	.											.	ZP3	32	.	0			c.C366T						PASS	.						112	83	93					7																	76058885		2203	4300	6503	SO:0001819	synonymous_variant	7784	exon2			CCGCCCCGTGGGA	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.366C>T	7.37:g.76058885C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	127	54	0.425197	NM_001110354	Q06633|Q29RW0	Silent	SNP	ENST00000394857.3	37	CCDS47618.1																																																																																			.	.	none		0.612	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			T	76058885	C	T	76058885	2	4	14	1	0	0	0	0	0	0	0	1	18214	639	23	1		1	ZP3	7	76058885	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3184935	76058885	83079778	120	3447										
PCLO	27445	hgsc.bcm.edu	37	chr7	82784833	82784833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aaggcttctctgacccagtcTgctgagctggaggcttagca	12	11	2	2	rs71074627		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:82784833T>G	ENST00000333891.9	-	2	1461	c.1124A>C	c.(1123-1125)cAg>cCg	p.Q375P	PCLO_ENST00000423517.2_Missense_Mutation_p.Q375P	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						TGACCCAGTCTGCTGAGCTGG	0.587																																					p.Q375P		Atlas-SNP	.											Q9Y6V0-3,NS,carcinoma,+1,2	PCLO	1506	2	0			c.A1124C						scavenged	.						51	52	52					7																	82784833		1971	4166	6137	SO:0001583	missense	27445	exon2			CCAGTCTGCTGAG	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.1124A>C	7.37:g.82784833T>G	ENSP00000334319:p.Gln375Pro	Somatic	149	5	0.033557		WXS	Illumina HiSeq	Phase_I	167	9	0.0538922	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	3.271	-0.149197	0.06585	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.28	-1.91	0.07641	.	.	.	.	.	T	0.13243	0.0321	L	0.39898	1.24	0.22001	N	0.999425	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.32929	-0.9888	9	0.87932	D	0	.	8.2544	0.31746	0.2246:0.0:0.4622:0.3132	.	375;375	Q9Y6V0-5;Q9Y6V0-6	.;.	P	375	ENSP00000334319:Q375P;ENSP00000388393:Q375P	ENSP00000334319:Q375P	Q	-	2	0	PCLO	82622769	0.976000	0.34144	0.001000	0.08648	0.658000	0.38924	1.551000	0.36233	-0.136000	0.11475	-0.264000	0.10439	CAG	.	.	none		0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82784833	T	G	82784833	3	3	14	1	0	0	0	0	1	0	0	0	11583	1580	55	5	14417	5	PCLO	7	82784833	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	6725948	82784833	76353830	121	3448										
GTPBP10	85865	hgsc.bcm.edu	37	chr7	90007487	90007487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agctttcttctcacactcaaTacaggacagcttttgaaacc	5	12	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:90007487T>C	ENST00000222511.6	+	8	805	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	GTPBP10_ENST00000257659.8_Missense_Mutation_p.Y168H	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	247	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TCACACTCAATACAGGACAGC	0.323																																					p.Y247H		Atlas-SNP	.											GTPBP10,NS,carcinoma,-1,2	GTPBP10	31	2	0			c.T739C						scavenged	.						180	162	168					7																	90007487		2202	4297	6499	SO:0001583	missense	85865	exon8			ACTCAATACAGGA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.739T>C	7.37:g.90007487T>C	ENSP00000222511:p.Tyr247His	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	214	5	0.0233645	NM_033107	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469930	0.26423	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.16597	2.33;2.33;2.33	5.6	5.6	0.85130	GTP-binding domain, HSR1-related (1);	0.103338	0.64402	D	0.000002	T	0.23133	0.0559	N	0.16166	0.38	0.45634	D	0.998564	D;B	0.67145	0.996;0.016	D;B	0.63877	0.919;0.038	T	0.09596	-1.0667	9	.	.	.	0.0036	15.7735	0.78190	0.0:0.0:0.0:1.0	.	168;247	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	H	168;247;174	ENSP00000257659:Y168H;ENSP00000222511:Y247H;ENSP00000416596:Y174H	.	Y	+	1	0	GTPBP10	89845423	1.000000	0.71417	0.814000	0.32528	0.802000	0.45316	5.200000	0.65158	2.107000	0.64212	0.528000	0.53228	TAC	.	.	none		0.323	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		C	90007487	T	C	90007487	3	2	14	1	0	0	0	0	1	0	0	0	6879	1406	49	2	769	2	GTPBP10	7	90007487	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	7222654	90007487	69131176	122	3449										
MUC17	140453	hgsc.bcm.edu	37	chr7	100678918	100678918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atacctgtcagcaccacgccGgtagtcagttctgaggctag	11	12	3	1	rs200627718|rs71286278	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:100678918G>A	ENST00000306151.4	+	3	4285	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	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)					GCACCACGCCGGTAGTCAGTT	0.512																																					p.P1407P		Atlas-SNP	.											MUC17,colon,carcinoma,+1,1	MUC17	804	1	0			c.G4221A						scavenged	.						272	277	276					7																	100678918		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.4221G>A	7.37:g.100678918G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	90	3	0.0333333	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.998;A|0.002	0.002	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678918	G	A	100678918	2	1	14	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100678918	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	10671431	100678918	58459745	123	3450										
MUC17	140453	hgsc.bcm.edu	37	chr7	100678932	100678932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cacgccggtagtcagttctgAggctagcaccctttcagcaa	10	13	3	1	rs114941002		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:100678932A>G	ENST00000306151.4	+	3	4299	c.4235A>G	c.(4234-4236)gAg>gGg	p.E1412G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1412	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)					GTCAGTTCTGAGGCTAGCACC	0.502																																					p.E1412G		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.A4235G						scavenged	.						272	277	275					7																	100678932		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTCTGAGGCTAG	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.4235A>G	7.37:g.100678932A>G	ENSP00000302716:p.Glu1412Gly	Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	95	7	0.0736842	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449416	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.838	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B	0.27765	0.188	B	0.19946	0.027	T	0.48502	-0.9030	9	0.23891	T	0.37	.	3.0434	0.06146	0.6909:0.0:0.3091:0.0	.	1412	Q685J3	MUC17_HUMAN	G	1412	ENSP00000302716:E1412G	ENSP00000302716:E1412G	E	+	2	0	MUC17	100465652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.362000	0.07602	-0.153000	0.11137	0.113000	0.15668	GAG	.	.	weak		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678932	A	G	100678932	3	3	14	1	0	0	0	0	1	0	0	0	9974	304	11	3	4245	3	MUC17	7	100678932	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	14	100678932	58459731	124	3451										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110764121	110764121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctgagagctttccttctaaTctaaatgtagaagctgggag	10	8	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:110764121T>C	ENST00000422987.3	+	2	2124	c.1293T>C	c.(1291-1293)aaT>aaC	p.N431N	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Silent_p.N431N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Silent_p.N431N	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	431	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCCTTCTAATCTAAATGTAG	0.438																																					p.N431N		Atlas-SNP	.											.	LRRN3	132	.	0			c.T1293C						PASS	.						111	117	115					7																	110764121		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			TTCTAATCTAAAT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1293T>C	7.37:g.110764121T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			.	.	none		0.438	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110764121	T	C	110764121	2	2	14	1	0	0	0	0	0	0	0	1	9036	1432	50	2		2	LRRN3	7	110764121	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	10085189	110764121	48374542	125	3452										
GRM8	2918	hgsc.bcm.edu	37	chr7	126544620	126544620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acctgatgtcatcctcattgGcaaacataatcactgctcga	6	12	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:126544620G>A	ENST00000339582.2	-	4	1653	c.845C>T	c.(844-846)gCc>gTc	p.A282V	GRM8_ENST00000444921.2_Missense_Mutation_p.A282V|GRM8_ENST00000405249.1_Missense_Mutation_p.A282V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A282V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	282					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A282D(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATCCTCATTGGCAAACATAAT	0.388										HNSCC(24;0.065)																											p.A282V		Atlas-SNP	.											GRM8,NS,carcinoma,0,1	GRM8	377	1	1	Substitution - Missense(1)	lung(1)	c.C845T						scavenged	.						115	109	111					7																	126544620		2203	4298	6501	SO:0001583	missense	2918	exon3			TCATTGGCAAACA		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.845C>T	7.37:g.126544620G>A	ENSP00000344173:p.Ala282Val	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	180	4	0.0222222	NM_000845	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524524	0.85600	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	L	0.53780	1.695	0.80722	D	1	P;D;P	0.58268	0.678;0.982;0.592	B;P;B	0.58013	0.421;0.831;0.348	D	0.87157	0.2212	10	0.45353	T	0.12	.	17.8349	0.88693	0.0:0.0:1.0:0.0	.	282;282;282	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	282	ENSP00000344173:A282V;ENSP00000409790:A282V;ENSP00000351142:A282V;ENSP00000385731:A282V;ENSP00000415522:A282V	ENSP00000344173:A282V	A	-	2	0	GRM8	126331856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.779000	0.99018	2.445000	0.82738	0.557000	0.71058	GCC	.	.	none		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126544620	G	A	126544620	3	1	14	1	0	0	0	0	1	0	0	0	6803	1203	42	2	1963	2	GRM8	7	126544620	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	15780499	126544620	32594043	126	3453										
SND1	27044	hgsc.bcm.edu	37	chr7	127447592	127447592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttccttacatgtttgaggccCgggaatttcttcgaaaaaag	9	8	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:127447592C>T	ENST00000354725.3	+	11	1401	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	403	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTTTGAGGCCCGGGAATTTCT	0.368																																					p.R403W		Atlas-SNP	.											.	SND1	104	.	0			c.C1207T						PASS	.						138	136	137					7																	127447592		2203	4300	6503	SO:0001583	missense	27044	exon11			GAGGCCCGGGAAT		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1207C>T	7.37:g.127447592C>T	ENSP00000346762:p.Arg403Trp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_014390	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740470	0.89573	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34072	1.38	5.86	5.86	0.93980	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.052414	0.85682	D	0.000000	T	0.69396	0.3106	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76664	-0.2876	10	0.87932	D	0	-19.8134	12.9338	0.58303	0.1619:0.8381:0.0:0.0	.	403	Q7KZF4	SND1_HUMAN	W	403;393	ENSP00000346762:R403W	ENSP00000346762:R403W	R	+	1	2	SND1	127234828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	2.937000	0.99478	0.650000	0.86243	CGG	.	.	none		0.368	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		T	127447592	C	T	127447592	3	4	14	1	0	0	0	0	1	0	0	0	14844	643	23	1	1249	1	SND1	7	127447592	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	902972	127447592	31691071	127	3454										
PTN	5764	hgsc.bcm.edu	37	chr7	136936058	136936058	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttcggcattgtgcagggctcGcttcagacttccagttctgg	12	11	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:136936058G>A	ENST00000348225.2	-	4	797	c.370C>T	c.(370-372)Cga>Tga	p.R124*	PTN_ENST00000393083.2_Nonsense_Mutation_p.R124*	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	124					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGCTCGCTTCAGACTT	0.527																																					p.R124X		Atlas-SNP	.											.	PTN	38	.	0			c.C370T						PASS	.						292	266	275					7																	136936058		2203	4300	6503	SO:0001587	stop_gained	5764	exon4			GGGCTCGCTTCAG	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.370C>T	7.37:g.136936058G>A	ENSP00000341170:p.Arg124*	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	274	131	0.478102	NM_002825	Q5U0B0|Q6ICQ5|Q9UCC6	Nonsense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	G	39	7.527019	0.98339	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	4.05	0.47172	.	0.115288	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.3356	14.1566	0.65422	0.0:0.0:0.5946:0.4054	.	.	.	.	X	124	.	ENSP00000341170:R124X	R	-	1	2	PTN	136586598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.741000	0.47426	1.528000	0.49103	0.650000	0.86243	CGA	.	.	none		0.527	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		A	136936058	G	A	136936058	4	1	14	1	0	0	0	0	0	1	0	0	12768	1095	38	1	144	1	PTN	7	136936058	Nonsense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	9488466	136936058	22202605	128	3455										
ZNF746	155061	hgsc.bcm.edu	37	chr7	149191527	149191527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaccttctagggaaagcaggCgagcagcctgcgattcaatc	12	11	2	0	rs397832784		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr7:149191527C>T	ENST00000340622.3	-	2	372	c.92G>A	c.(91-93)cGc>cAc	p.R31H	ZNF746_ENST00000461958.2_Missense_Mutation_p.R31H|ZNF746_ENST00000458143.2_Missense_Mutation_p.R31H			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	31					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAAAGCAGGCGAGCAGCCTG	0.552																																					p.R31H		Atlas-SNP	.											ZNF746,colon,carcinoma,+1,2	ZNF746	68	2	0			c.G92A						scavenged	.						93	95	94					7																	149191527		2203	4300	6503	SO:0001583	missense	155061	exon2			AGCAGGCGAGCAG	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.92G>A	7.37:g.149191527C>T	ENSP00000345140:p.Arg31His	Somatic	206	4	0.0194175		WXS	Illumina HiSeq	Phase_I	244	4	0.0163934	NM_001163474	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.962584	0.53400	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.25085	1.82;1.82	4.64	4.64	0.57946	.	0.000000	0.43747	D	0.000521	T	0.27798	0.0684	.	.	.	0.34184	D	0.671235	P;P	0.43094	0.758;0.799	B;B	0.42214	0.329;0.38	T	0.49485	-0.8935	9	0.87932	D	0	-24.5085	13.0146	0.58749	0.0:1.0:0.0:0.0	.	31;31	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	H	31;31;18	ENSP00000345140:R31H;ENSP00000395007:R31H	ENSP00000345140:R31H	R	-	2	0	ZNF746	148822460	0.972000	0.33761	0.999000	0.59377	0.893000	0.52053	2.208000	0.42797	2.119000	0.64992	0.514000	0.50259	CGC	.	.	none		0.552	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		T	149191527	C	T	149191527	3	4	14	1	0	0	0	0	1	0	0	0	18126	768	27	1	1869	1	ZNF746	7	149191527	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	12255469	149191527	9947136	129	3456										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10469677	10469677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgaggacattgcactggccCggcttctgtgccttctctgc	12	13	2	1	rs374296911		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:10469677C>T	ENST00000382483.3	-	4	2154	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	644					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCACTGGCCCGGCTTCTGTG	0.642																																					p.R644Q		Atlas-SNP	.											RP1L1,NS,carcinoma,-1,1	RP1L1	453	1	0			c.G1931A						scavenged	.	C	GLN/ARG	0,4186		0,0,2093	42	51	48		1931	-2.8	0	8		48	2,8424		0,2,4211	no	missense	RP1L1	NM_178857.5	43	0,2,6304	TT,TC,CC		0.0237,0.0,0.0159	probably-damaging	644/2401	10469677	2,12610	2093	4213	6306	SO:0001583	missense	94137	exon4			CTGGCCCGGCTTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1931G>A	8.37:g.10469677C>T	ENSP00000371923:p.Arg644Gln	Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	73	2	0.0273973	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	8.317	0.823379	0.16678	0.0	2.37E-4	ENSG00000183638	ENST00000382483	T	0.04502	3.61	4.55	-2.77	0.05877	.	0.694155	0.10974	N	0.613478	T	0.02380	0.0073	L	0.29908	0.895	0.09310	N	1	P	0.35011	0.48	B	0.21151	0.033	T	0.41161	-0.9524	10	0.56958	D	0.05	-2.7183	0.9228	0.01318	0.2228:0.2855:0.2932:0.1986	.	644	A6NKC6	.	Q	644	ENSP00000371923:R644Q	ENSP00000371923:R644Q	R	-	2	0	RP1L1	10507087	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.139000	0.10358	-0.211000	0.10124	0.455000	0.32223	CGG	.	.	weak		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10469677	C	T	10469677	3	4	14	1	0	0	0	0	1	0	0	0	13533	652	23	1	5275	1	RP1L1	8	10469677	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		10469677	135894345	130	3457										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77766731	77766731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgctcaaaaccaattccttcActctccgttcttggaaaggc	6	13	4	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:77766731A>T	ENST00000521891.2	+	10	8022	c.7574A>T	c.(7573-7575)cAc>cTc	p.H2525L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2480L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2480L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2499L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2480					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)			CAATTCCTTCACTCTCCGTTC	0.498										HNSCC(33;0.089)																											p.H2525L		Atlas-SNP	.											.	ZFHX4	878	.	0			c.A7574T						PASS	.						167	167	167					8																	77766731		2038	4213	6251	SO:0001583	missense	79776	exon10			TCCTTCACTCTCC		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.7574A>T	8.37:g.77766731A>T	ENSP00000430497:p.His2525Leu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	105	12	0.114286	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184571	0.57909	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.6;0.66;0.63;0.62	4.94	4.94	0.65067	.	0.000000	0.46758	U	0.000276	T	0.65554	0.2702	M	0.71581	2.175	0.80722	D	1	P;P;P	0.52316	0.92;0.896;0.952	P;P;P	0.55999	0.727;0.789;0.789	T	0.66444	-0.5922	10	0.39692	T	0.17	.	14.7648	0.69632	1.0:0.0:0.0:0.0	.	2480;2480;2525	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	2525;2509;2480;2480;2499	ENSP00000430497:H2525L;ENSP00000399605:H2480L;ENSP00000050961:H2480L;ENSP00000430848:H2499L	ENSP00000050961:H2480L	H	+	2	0	ZFHX4	77929286	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.131000	0.94446	2.077000	0.62373	0.528000	0.53228	CAC	.	.	none		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77766731	A	T	77766731	3	4	14	1	0	0	0	0	1	0	0	0	17632	159	6	5	7608	5	ZFHX4	8	77766731	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	67297054	77766731	68597291	131	3458										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		Atlas-SNP	.											PABPC1,NS,carcinoma,0,2	PABPC1	76	2	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						scavenged	.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	253	4	0.0158103	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.	.	weak		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	14	1	0	0	0	0	1	0	0	0	11363	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	23957875	101724606	44639416	132	3459										
UBR5	51366	hgsc.bcm.edu	37	chr8	103269903	103269903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcatcttctctactattgacCagaaccaacgcttgaactgc	5	13	3	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:103269903C>T	ENST00000520539.1	-	58	8750	c.8144G>A	c.(8143-8145)tGg>tAg	p.W2715*	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTATTGACCAGAACCAACG	0.323																																					p.W2715X	Ovarian(131;96 1741 5634 7352 27489)	Atlas-SNP	.											.	UBR5	285	.	0			c.G8144A						PASS	.						89	84	85					8																	103269903		2202	4300	6502	SO:0001587	stop_gained	51366	exon58			ATTGACCAGAACC	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8144G>A	8.37:g.103269903C>T	ENSP00000429084:p.Trp2715*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	53	20.275754	0.99929	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	2715;2714;443;2708	.	ENSP00000220959:W2714X	W	-	2	0	UBR5	103339079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.578000	0.87016	0.585000	0.79938	TGG	.	.	none		0.323	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103269903	C	T	103269903	4	4	14	1	0	0	0	0	0	1	0	0	16902	595	21	2	263	2	UBR5	8	103269903	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1545297	103269903	43094119	133	3460										
CSMD3	114788	hgsc.bcm.edu	37	chr8	114111175	114111175	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	actggatcctctcattgttcCtccacaagcatcttcagctg	6	14	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:114111175C>A	ENST00000297405.5	-	5	971	c.727G>T	c.(727-729)Gga>Tga	p.G243*	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G243*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G243*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G203*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	243	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCATTGTTCCTCCACAAGCA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G243X		Atlas-SNP	.											CSMD3_ENST00000343508,NS,carcinoma,+1,2	CSMD3	2325	2	0			c.G727T						PASS	.						110	96	101					8																	114111175		2203	4299	6502	SO:0001587	stop_gained	114788	exon5			TTGTTCCTCCACA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.727G>T	8.37:g.114111175C>A	ENSP00000297405:p.Gly243*	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_052900	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	37	6.448676	0.97577	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	18.8655	0.92290	0.0:1.0:0.0:0.0	.	.	.	.	X	203;243;243;243	.	ENSP00000297405:G243X	G	-	1	0	CSMD3	114180351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.542000	0.85734	0.591000	0.81541	GGA	.	.	none		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	114111175	C	A	114111175	4	1	14	1	0	0	0	0	0	1	0	0	3946	690	24	4	10664	4	CSMD3	8	114111175	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	10841272	114111175	32252847	134	3461										
TNFRSF11B	4982	hgsc.bcm.edu	37	chr8	119938922	119938922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgtaaactttgtaggaacagCaaacctgaagaatgcctcct	8	10	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:119938922C>A	ENST00000297350.4	-	4	1006	c.628G>T	c.(628-630)Gct>Tct	p.A210S		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	210	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTAGGAACAGCAAACCTGAAG	0.413																																					p.A210S		Atlas-SNP	.											.	TNFRSF11B	87	.	0			c.G628T						PASS	.						102	91	95					8																	119938922		2203	4300	6503	SO:0001583	missense	4982	exon4			GAACAGCAAACCT	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.628G>T	8.37:g.119938922C>A	ENSP00000297350:p.Ala210Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	106	5	0.0471698	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599564	0.87055	.	.	ENSG00000164761	ENST00000297350	T	0.62639	0.01	5.6	5.6	0.85130	DEATH-like (1);	0.151580	0.44097	D	0.000494	T	0.71517	0.3349	L	0.44542	1.39	0.40998	D	0.984908	D	0.76494	0.999	D	0.63793	0.918	T	0.69499	-0.5129	9	.	.	.	-6.7848	17.8092	0.88610	0.0:1.0:0.0:0.0	.	210	O00300	TR11B_HUMAN	S	210	ENSP00000297350:A210S	.	A	-	1	0	TNFRSF11B	120008103	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.309000	0.43699	2.652000	0.90054	0.563000	0.77884	GCT	.	.	none		0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			A	119938922	C	A	119938922	3	1	14	1	0	0	0	0	1	0	0	0	16282	710	25	4	585	4	TNFRSF11B	8	119938922	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5827747	119938922	26425100	135	3462										
MYC	4609	hgsc.bcm.edu	37	chr8	128750820	128750820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagctggagatggtgaccgaGctgctgggaggagacatggt	18	7	0	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:128750820G>A	ENST00000259523.6	+	2	1517	c.312G>A	c.(310-312)gaG>gaA	p.E104E	MYC_ENST00000377970.2_Silent_p.E119E|MYC_ENST00000524013.1_Silent_p.E118E			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	104					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	TGGTGACCGAGCTGCTGGGAG	0.602		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E119E		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.G357A						PASS	.						52	52	52					8																	128750820		2203	4300	6503	SO:0001819	synonymous_variant	4609	exon2			GACCGAGCTGCTG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.312G>A	8.37:g.128750820G>A		Somatic	94	0	0	1567	WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_002467	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37																																																																																				.	.	none		0.602	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			A	128750820	G	A	128750820	2	1	14	1	0	0	0	0	0	0	0	1	10016	962	34	2		2	MYC	8	128750820	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	8811898	128750820	17613202	136	3463										
NFKBIL2	4796	hgsc.bcm.edu	37	chr8	145659566	145659566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcttgagggcccgcagcaggGgtgtaagctgggcctggtcc	18	11	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr8:145659566G>A	ENST00000409379.3	-	21	3211	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1061					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCGCAGCAGGGGTGTAAGCTG	0.697																																					p.P1061L		Atlas-SNP	.											TONSL_ENST00000409379,right_upper_lobe,carcinoma,0,2	TONSL	128	2	0			c.C3182T						scavenged	.						17	19	18					8																	145659566		2202	4293	6495	SO:0001583	missense	4796	exon21			AGCAGGGGTGTAA		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3182C>T	8.37:g.145659566G>A	ENSP00000386239:p.Pro1061Leu	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	129	2	0.0155039	NM_013432	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952988	0.92660	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.49720	0.77	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.68526	-0.5385	10	0.87932	D	0	-35.9592	15.9642	0.79952	0.0:0.0:1.0:0.0	.	1061	Q96HA7	TONSL_HUMAN	L	1061;1060	ENSP00000386239:P1061L	ENSP00000386239:P1061L	P	-	2	0	TONSL	145630374	1.000000	0.71417	0.925000	0.36789	0.966000	0.64601	8.797000	0.91882	2.368000	0.80403	0.462000	0.41574	CCC	.	.	none		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145659566	G	A	145659566	3	1	14	1	0	0	0	0	1	0	0	0	10382	1232	43	2	978	2	NFKBIL2	8	145659566	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	16908746	145659566	704456	137	3464										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	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)		gcagcagcaacagcagcagcagc	0.635																																					p.222_223del		Pindel	.											SMARCA2_ENST00000349721,NS,carcinoma,0,2	SMARCA2	313	2	0			c.666_668del						PASS	.																																			SO:0001651	inframe_deletion	6595	exon4			.	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.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del	Somatic	75	.	.		WXS	Illumina HiSeq	Phase_I	71	13	0.183	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	CCDS34977.1																																																																																			.	.	weak		0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		-	2039779	CAG	-	2039777	7	5	14	1	0	1	0	1	0	0	0	0	14769	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-FF-8047-01A-11D-2210-10		2039777	139173654	138	3465										
C9orf150	286343	hgsc.bcm.edu	37	chr9	12775861	12775861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgcggggggagcggtggtggTggcggcggcggcggcggctg	27	8	0	0	rs3833707|rs139315731		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:12775861T>C	ENST00000319264.3	+	1	842	c.147T>C	c.(145-147)ggT>ggC	p.G49G	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	52	Gly-rich.		Missing.					p.G49_G50insGGG(2)									gcggtggtggtggcggcggcg	0.687																																					p.G49G		Atlas-SNP	.											C9orf150,NS,carcinoma,0,1	.	.	1	2	Insertion - In frame(2)	prostate(1)|central_nervous_system(1)	c.T147C						scavenged	.						4	5	5					9																	12775861		2038	3961	5999	SO:0001819	synonymous_variant	286343	exon1			TGGTGGTGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.147T>C	9.37:g.12775861T>C		Somatic	12	2	0.166667		WXS	Illumina HiSeq	Phase_I	15	5	0.333333	NM_203403	Q5VZX7|Q8N923|Q8NCG2	Silent	SNP	ENST00000319264.3	37	CCDS6473.1																																																																																			.	.	none		0.687	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		C	12775861	T	C	12775861	2	2	14	1	0	0	0	0	0	0	0	1	2462	1683	59	2		2	C9orf150	9	12775861	Silent	SNP	T	TCGA-FF-8047-01A-11D-2210-10	10736084	12775861	128437570	139	3466										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13150599	13150599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gatgaaaatgcccctcatcaCttctccattgcttagccgac	6	14	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:13150599C>T	ENST00000319217.7	-	25	3788	c.3541G>A	c.(3541-3543)Gtg>Atg	p.V1181M	MPDZ_ENST00000538841.1_Missense_Mutation_p.V73M|MPDZ_ENST00000541718.1_Missense_Mutation_p.V1181M|MPDZ_ENST00000536827.1_Missense_Mutation_p.V1181M|MPDZ_ENST00000546205.1_Missense_Mutation_p.V1195M|MPDZ_ENST00000381022.2_Missense_Mutation_p.V1181M|MPDZ_ENST00000447879.1_Missense_Mutation_p.V1181M|MPDZ_ENST00000381015.4_Missense_Mutation_p.V1181M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1181	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCCCTCATCACTTCTCCATTG	0.458																																					p.V1181M		Atlas-SNP	.											.	MPDZ	324	.	0			c.G3541A						PASS	.						140	138	138					9																	13150599		1911	4137	6048	SO:0001583	missense	8777	exon25			TCATCACTTCTCC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3541G>A	9.37:g.13150599C>T	ENSP00000320006:p.Val1181Met	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	109	42	0.385321	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	15.87	2.960646	0.53400	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.78;2.73;2.73;2.61;2.76;2.74;2.79;2.78;2.79;0.85;0.9	5.95	5.95	0.96441	.	0.000000	0.38272	N	0.001757	T	0.64450	0.2599	L	0.45352	1.415	0.80722	D	1	D;B;D;D;D	0.89917	0.992;0.057;0.99;1.0;0.99	D;B;P;D;P	0.91635	0.94;0.069;0.901;0.999;0.901	T	0.60596	-0.7232	10	0.48119	T	0.1	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	1181;73;1181;1131;1181	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	M	1181;1181;1181;187;73;1181;1181;1181;1131;1195;73;73	ENSP00000320006:V1181M;ENSP00000439807:V1181M;ENSP00000370410:V1181M;ENSP00000444230:V187M;ENSP00000444717:V73M;ENSP00000444151:V1181M;ENSP00000415208:V1181M;ENSP00000370403:V1181M;ENSP00000446358:V1195M;ENSP00000389705:V73M;ENSP00000443672:V73M	ENSP00000320006:V1181M	V	-	1	0	MPDZ	13140599	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	2.324000	0.43831	2.825000	0.97269	0.655000	0.94253	GTG	.	.	none		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		T	13150599	C	T	13150599	3	4	14	1	0	0	0	0	1	0	0	0	9722	565	20	2	2672	2	MPDZ	9	13150599	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	374738	13150599	128062832	140	3467										
CBWD3	445571	hgsc.bcm.edu	37	chr9	70871857	70871857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgcagtggcttctatgtttTgggttgatgctgaattaggg	15	4	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:70871857T>A	ENST00000360171.6	+	5	1002	c.451T>A	c.(451-453)Tgg>Agg	p.W151R	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	151							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTCTATGTTTTGGGTTGATGC	0.269																																					p.W151R		Atlas-SNP	.											.	CBWD3	10	.	0			c.T451A						PASS	.						25	31	29					9																	70871857		2189	4258	6447	SO:0001583	missense	445571	exon5			ATGTTTTGGGTTG	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.451T>A	9.37:g.70871857T>A	ENSP00000353295:p.Trp151Arg	Somatic	399	0	0		WXS	Illumina HiSeq	Phase_I	484	112	0.231405	NM_201453	B4DNG9|Q6VB91	Missense_Mutation	SNP	ENST00000360171.6	37	CCDS35038.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.338396	0.60963	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455061;ENST00000455820;ENST00000377344	T	0.41065	1.01	3.38	3.38	0.38709	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;P	0.89917	1.0;0.815	D;P	0.87578	0.998;0.733	T	0.65685	-0.6108	10	0.87932	D	0	-30.7068	11.0695	0.47995	0.0:0.0:0.0:1.0	.	151;151	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	R	151;151;151;151;115	ENSP00000353295:W151R	ENSP00000353295:W151R	W	+	1	0	CBWD3	70061677	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.201000	0.77847	1.311000	0.45024	0.254000	0.18369	TGG	.	.	none		0.269	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		A	70871857	T	A	70871857	3	1	14	1	0	0	0	0	1	0	0	0	2714	1812	63	5	1717	5	CBWD3	9	70871857	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	57721258	70871857	70341574	141	3468										
RALGPS1	9649	hgsc.bcm.edu	37	chr9	129958862	129958862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agtcccgcagcccccgaaggGgcctggctctgacctcctcc	11	19	1	1	rs57728614	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:129958862G>T	ENST00000259351.5	+	13	1414	c.1147G>T	c.(1147-1149)Ggc>Tgc	p.G383C	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	383					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.G383C(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCCCCGAAGGGGCCTGGCTCT	0.582													G|||	157	0.0313498	0.0	0.0014	5008	,	,		19483	0.0893		0.0	False		,,,				2504	0.0675				p.G383C		Atlas-SNP	.											RALGPS1_ENST00000259351,NS,carcinoma,0,1	RALGPS1	86	1	1	Substitution - Missense(1)	stomach(1)	c.G1147T						scavenged	.	G	,,CYS/GLY	2,4404	4.2+/-10.8	0,2,2201	117	113	114		,,1147	4.6	1	9	dbSNP_129	114	3,8597	3.0+/-9.4	0,3,4297	yes	intron,intron,missense	RALGPS1	NM_001190728.1,NM_001190729.1,NM_014636.2	,,159	0,5,6498	TT,TG,GG		0.0349,0.0454,0.0384	,,benign	,,383/558	129958862	5,13001	2203	4300	6503	SO:0001583	missense	9649	exon13			CGAAGGGGCCTGG	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1147G>T	9.37:g.129958862G>T	ENSP00000259351:p.Gly383Cys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	134	4	0.0298507	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	60	0.027472527472527472	0	0.0	1	0.0027624309392265192	59	0.10314685314685315	0	0.0	G	15.14	2.744675	0.49151	4.54E-4	3.49E-4	ENSG00000136828	ENST00000259351	T	0.26660	1.72	5.48	4.57	0.56435	.	1.540210	0.03169	N	0.170414	T	0.00524	0.0017	N	0.19112	0.55	0.09310	P	1.0	B	0.06786	0.001	B	0.15484	0.013	T	0.04579	-1.0941	9	0.72032	D	0.01	.	6.3292	0.21260	0.2426:0.0:0.7574:0.0	rs57728614	383	Q5JS13	RGPS1_HUMAN	C	383	ENSP00000259351:G383C	ENSP00000259351:G383C	G	+	1	0	RALGPS1	128998683	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.607000	0.61133	2.572000	0.86782	0.491000	0.48974	GGC	G|0.992;T|0.008	0.008	strong		0.582	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		T	129958862	G	T	129958862	3	4	14	1	0	0	0	0	1	0	0	0	13017	1232	43	4	1193	4	RALGPS1	9	129958862	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	59087005	129958862	11254569	142	3469										
ASS1	445	hgsc.bcm.edu	37	chr9	133374905	133374905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cttgcagcatgaacgtgcagGgtgattatgagccaactgat	12	8	0	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:133374905G>A	ENST00000372394.1	+	15	1622	c.1141G>A	c.(1141-1143)Ggt>Agt	p.G381S	ASS1_ENST00000372393.3_Missense_Mutation_p.G381S|ASS1_ENST00000352480.5_Missense_Mutation_p.G381S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	381					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GAACGTGCAGGGTGATTATGA	0.582																																					p.G381S		Atlas-SNP	.											ASS1,upper_leg,malignant_melanoma,0,1	ASS1	37	1	0			c.G1141A						scavenged	.						69	57	61					9																	133374905		2203	4300	6503	SO:0001583	missense	445	exon14			GTGCAGGGTGATT	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1141G>A	9.37:g.133374905G>A	ENSP00000361471:p.Gly381Ser	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	155	2	0.0129032	NM_054012	Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929294	0.52759	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99070	-5.39;-5.39;-5.39;-4.95	3.56	3.56	0.40772	.	0.298040	0.30639	U	0.009193	D	0.97813	0.9282	L	0.41632	1.29	0.58432	D	0.999999	D;D;P;P	0.62365	0.991;0.991;0.844;0.844	P;P;P;P	0.50270	0.636;0.636;0.499;0.499	D	0.97476	1.0044	10	0.48119	T	0.1	.	14.2592	0.66073	0.0:0.0:1.0:0.0	.	264;264;381;381	B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;ASSY_HUMAN	S	381;381;381;381;138	ENSP00000253004:G381S;ENSP00000361471:G381S;ENSP00000361469:G381S;ENSP00000361461:G138S	ENSP00000361470:G381S	G	+	1	0	ASS1	132364726	1.000000	0.71417	0.985000	0.45067	0.242000	0.25591	7.601000	0.82783	1.981000	0.57761	0.555000	0.69702	GGT	.	.	none		0.582	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		A	133374905	G	A	133374905	3	1	14	1	0	0	0	0	1	0	0	0	1061	1232	43	2	1191	2	ASS1	9	133374905	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	3416043	133374905	7838526	143	3470										
MED27	9442	hgsc.bcm.edu	37	chr9	134736013	134736013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctgcagaaacttcccgcagCgctggcacggggcctggaac	13	15	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:134736013C>T	ENST00000292035.5	-	8	911	c.848G>A	c.(847-849)cGc>cAc	p.R283H	MED27_ENST00000357028.2_Missense_Mutation_p.R247H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	283					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTCCCGCAGCGCTGGCACGG	0.562																																					p.R283H	Colon(41;784 923 6932 42329 52483)	Atlas-SNP	.											.	MED27	37	.	0			c.G848A						PASS	.						33	32	32					9																	134736013		2203	4300	6503	SO:0001583	missense	9442	exon8			CCGCAGCGCTGGC	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.848G>A	9.37:g.134736013C>T	ENSP00000292035:p.Arg283His	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	121	9	0.0743802	NM_004269	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219164	0.95104	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.96	T	0.80600	-0.1310	9	0.62326	D	0.03	0.0762	16.105	0.81213	0.0:1.0:0.0:0.0	.	247;283	Q6P2C8-2;Q6P2C8	.;MED27_HUMAN	H	283;209;247	.	ENSP00000292035:R283H	R	-	2	0	MED27	133725834	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.611000	0.82962	2.472000	0.83506	0.655000	0.94253	CGC	.	.	none		0.562	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		T	134736013	C	T	134736013	3	4	14	1	0	0	0	0	1	0	0	0	9445	768	27	1	91	1	MED27	9	134736013	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1361108	134736013	6477418	144	3471										
NOTCH1	4851	hgsc.bcm.edu	37	chr9	139391655	139391655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgtcctgggacttcttcctcCgtgccttgaggtccttggcc	11	15	1	1	rs587778571		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr9:139391655C>T	ENST00000277541.6	-	34	6611	c.6536G>A	c.(6535-6537)cGg>cAg	p.R2179Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2179					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTTCTTCCTCCGTGCCTTGAG	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.R2179Q		Atlas-SNP	.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	NOTCH1_ENST00000277541,NS,carcinoma,0,2	NOTCH1	1980	2	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G6536A						scavenged	.						43	50	48					9																	139391655		2182	4269	6451	SO:0001583	missense	4851	exon34			TTCCTCCGTGCCT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6536G>A	9.37:g.139391655C>T	ENSP00000277541:p.Arg2179Gln	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_017617	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195470	0.58126	.	.	ENSG00000148400	ENST00000277541	D	0.84370	-1.84	5.42	5.42	0.78866	.	0.055905	0.64402	D	0.000002	D	0.86260	0.5890	M	0.82630	2.6	0.48040	D	0.999571	P	0.51240	0.943	B	0.39185	0.293	D	0.88293	0.2944	10	0.49607	T	0.09	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2179	P46531	NOTC1_HUMAN	Q	2179	ENSP00000277541:R2179Q	ENSP00000277541:R2179Q	R	-	2	0	NOTCH1	138511476	1.000000	0.71417	0.982000	0.44146	0.649000	0.38597	4.757000	0.62213	2.703000	0.92315	0.561000	0.74099	CGG	.	.	none		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139391655	C	T	139391655	3	4	14	1	0	0	0	0	1	0	0	0	10547	652	23	1	1135	1	NOTCH1	9	139391655	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	4655642	139391655	1821776	145	3472										
AKR1C4	1109	hgsc.bcm.edu	37	chr10	5238850	5238850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatggatcccaaatatcagcGtgtagagctaaatgatggtc	10	7	1	2	rs373855442		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:5238850G>A	ENST00000380448.1	+	3	273	c.20G>A	c.(19-21)cGt>cAt	p.R7H	AKR1CL1_ENST00000445191.1_Intron|U8_ENST00000516100.1_RNA|AKR1C4_ENST00000263126.1_Missense_Mutation_p.R7H			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	7					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAATATCAGCGTGTAGAGCTA	0.408																																					p.R7H		Atlas-SNP	.											AKR1C4,NS,carcinoma,+1,3	AKR1C4	57	3	0			c.G20A						scavenged	.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	253	205	221		20	-3.6	0	10		221	0,8600		0,0,4300	no	missense	AKR1C4	NM_001818.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	7/324	5238850	1,13005	2203	4300	6503	SO:0001583	missense	1109	exon1			ATCAGCGTGTAGA	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.20G>A	10.37:g.5238850G>A	ENSP00000369814:p.Arg7His	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	176	4	0.0227273	NM_001818	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	5.139	0.211236	0.09757	2.27E-4	0.0	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.55930	0.49;0.49	2.92	-3.61	0.04556	NADP-dependent oxidoreductase domain (2);	1.662580	0.03590	N	0.231684	T	0.31327	0.0793	N	0.25485	0.75	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.05784	-1.0864	10	0.14656	T	0.56	.	1.2306	0.01943	0.3178:0.15:0.3804:0.1518	.	7	P17516	AK1C4_HUMAN	H	7	ENSP00000369814:R7H;ENSP00000263126:R7H	ENSP00000263126:R7H	R	+	2	0	AKR1C4	5228850	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.805000	0.04530	-0.745000	0.04772	0.591000	0.81541	CGT	.	.	none		0.408	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		A	5238850	G	A	5238850	3	1	14	1	0	0	0	0	1	0	0	0	472	1145	40	1	22	1	AKR1C4	10	5238850	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		5238850	130295897	146	3473										
ST8SIA6	338596	hgsc.bcm.edu	37	chr10	17363043	17363043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctacagttttagagaagggcCagaatccatacagcttcaca	8	10	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:17363043C>T	ENST00000377602.4	-	8	1105	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	344					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGAAGGGCCAGAATCCATA	0.438																																					p.W344X		Atlas-SNP	.											ST8SIA6,NS,carcinoma,-1,1	ST8SIA6	85	1	0			c.G1031A						scavenged	.						201	191	194					10																	17363043		2203	4300	6503	SO:0001587	stop_gained	338596	exon8			AAGGGCCAGAATC		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1031G>A	10.37:g.17363043C>T	ENSP00000366827:p.Trp344*	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Nonsense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	37	6.490326	0.97607	.	.	ENSG00000148488	ENST00000377602	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0972	19.5559	0.95347	0.0:1.0:0.0:0.0	.	.	.	.	X	344	.	ENSP00000366827:W344X	W	-	2	0	ST8SIA6	17403049	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.651000	0.83577	2.861000	0.98227	0.650000	0.86243	TGG	.	.	none		0.438	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		T	17363043	C	T	17363043	4	4	14	1	0	0	0	0	0	1	0	0	15235	595	21	2	169	2	ST8SIA6	10	17363043	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	12124193	17363043	118171704	147	3474										
MPP7	143098	hgsc.bcm.edu	37	chr10	28527517	28527517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagtgtcactcccagatcccGttgacaaagctggcatgatg	10	12	1	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:28527517G>A	ENST00000375732.1	-	2	276	c.17C>T	c.(16-18)aCg>aTg	p.T6M	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_De_novo_Start_OutOfFrame|MPP7_ENST00000540098.1_Missense_Mutation_p.T6M|MPP7_ENST00000337532.5_Missense_Mutation_p.T6M|MPP7_ENST00000375719.3_Missense_Mutation_p.T6M			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	6					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCCAGATCCCGTTGACAAAGC	0.512																																					p.T6M		Atlas-SNP	.											MPP7,rectum,carcinoma,+1,2	MPP7	60	2	0			c.C17T						PASS	.						147	117	128					10																	28527517		2203	4300	6503	SO:0001583	missense	143098	exon4			GATCCCGTTGACA	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.17C>T	10.37:g.28527517G>A	ENSP00000364884:p.Thr6Met	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632038	0.46944	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.33216	2.7;2.7;2.7;2.7;1.42	6.07	5.16	0.70880	.	0.115089	0.64402	N	0.000016	T	0.32496	0.0831	L	0.36672	1.1	0.80722	D	1	P	0.39535	0.677	P	0.44732	0.459	T	0.08889	-1.0700	10	0.56958	D	0.05	.	13.615	0.62103	0.0713:0.0:0.9287:0.0	.	6	Q5T2T1	MPP7_HUMAN	M	6	ENSP00000364884:T6M;ENSP00000337907:T6M;ENSP00000438693:T6M;ENSP00000364871:T6M;ENSP00000398319:T6M	ENSP00000337907:T6M	T	-	2	0	MPP7	28567523	0.998000	0.40836	0.049000	0.19019	0.259000	0.26198	6.263000	0.72521	1.571000	0.49722	0.655000	0.94253	ACG	.	.	none		0.512	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		A	28527517	G	A	28527517	3	1	14	1	0	0	0	0	1	0	0	0	9739	1145	40	1	1777	1	MPP7	10	28527517	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	11164474	28527517	107007230	148	3475										
NRP1	8829	hgsc.bcm.edu	37	chr10	33510716	33510716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccaagttgcaggcttgattcGgacaaatcgagttatcagtg	11	8	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:33510716G>A	ENST00000265371.4	-	9	1738	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.R405*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R405*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R405*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R405*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R405*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R224*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R405*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R405*			O14786	NRP1_HUMAN	neuropilin 1	405	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGCTTGATTCGGACAAATCGA	0.428																																					p.R405X	Melanoma(104;886 1489 44640 45944 51153)	Atlas-SNP	.											NRP1,right_upper_lobe,carcinoma,0,1	NRP1	126	1	0			c.C1213T						scavenged	.						172	162	165					10																	33510716		2203	4300	6503	SO:0001587	stop_gained	8829	exon8			TGATTCGGACAAA	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1213C>T	10.37:g.33510716G>A	ENSP00000265371:p.Arg405*	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	143	3	0.020979	NM_001244973	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	37	6.612153	0.97705	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1889	14.4851	0.67611	0.0:0.0:0.7419:0.2581	.	.	.	.	X	405;224;405;405;405;405;405;405;78	.	ENSP00000265371:R405X	R	-	1	2	NRP1	33550722	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.119000	0.64679	2.941000	0.99782	0.655000	0.94253	CGA	.	.	none		0.428	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			A	33510716	G	A	33510716	4	1	14	1	0	0	0	0	0	1	0	0	10660	1124	39	1	1609	1	NRP1	10	33510716	Nonsense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4983199	33510716	102024031	149	3476										
ZNF33A	7581	hgsc.bcm.edu	37	chr10	38345000	38345000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaaaagctttctgccataagTcagctctaattgtacatcag	7	9	4	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:38345000T>C	ENST00000458705.2	+	5	2103	c.1945T>C	c.(1945-1947)Tca>Cca	p.S649P	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.S650P|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S656P|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S649P			Q06730	ZN33A_HUMAN	zinc finger protein 33A	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTGCCATAAGTCAGCTCTAAT	0.378																																					p.S650P		Atlas-SNP	.											ZNF33A,NS,carcinoma,-1,1	ZNF33A	103	1	0			c.T1948C						scavenged	.						99	104	102					10																	38345000		2203	4300	6503	SO:0001583	missense	7581	exon5			CATAAGTCAGCTC	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1945T>C	10.37:g.38345000T>C	ENSP00000387713:p.Ser649Pro	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	53	2	0.0377358	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722832	0.30503	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28933	N	0.013667	T	0.48187	0.1486	L	0.53729	1.69	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.943;0.937;0.992	T	0.18650	-1.0330	10	0.66056	D	0.02	.	7.0172	0.24895	0.0:0.0:0.0:1.0	.	656;649;650	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	P	650;656;649;649	ENSP00000363747:S650P;ENSP00000402467:S656P;ENSP00000387713:S649P;ENSP00000304268:S649P	ENSP00000304268:S649P	S	+	1	0	ZNF33A	38385006	0.000000	0.05858	1.000000	0.80357	0.773000	0.43773	-0.888000	0.04148	0.750000	0.32877	0.260000	0.18958	TCA	.	.	none		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		C	38345000	T	C	38345000	3	2	14	1	0	0	0	0	1	0	0	0	17851	1667	58	2	1962	2	ZNF33A	10	38345000	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	4834284	38345000	97189747	150	3477										
SEC24C	9632	hgsc.bcm.edu	37	chr10	75528653	75528653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgatgctgtgatgcgggtccGgacaagcactggtcagtcct	14	10	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:75528653G>A	ENST00000339365.2	+	17	2429	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.R756Q|SEC24C_ENST00000540668.1_Missense_Mutation_p.R4Q|SEC24C_ENST00000535742.1_Missense_Mutation_p.R4Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.R637Q	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	756					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ATGCGGGTCCGGACAAGCACT	0.567																																					p.R756Q		Atlas-SNP	.											SEC24C,colon,carcinoma,+1,1	SEC24C	86	1	0			c.G2267A						scavenged	.						163	130	141					10																	75528653		2203	4300	6503	SO:0001583	missense	9632	exon16			GGGTCCGGACAAG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2267G>A	10.37:g.75528653G>A	ENSP00000343405:p.Arg756Gln	Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_198597	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.645599	0.96704	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.985;0.996;0.999	D	0.88326	0.2965	10	0.87932	D	0	-18.0683	19.8791	0.96888	0.0:0.0:1.0:0.0	.	637;756;756	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	Q	4;756;4;756;637	ENSP00000446174:R4Q;ENSP00000321845:R756Q;ENSP00000445023:R4Q;ENSP00000343405:R756Q;ENSP00000402913:R637Q	ENSP00000343405:R756Q	R	+	2	0	SEC24C	75198659	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.706000	0.92434	0.467000	0.42956	CGG	.	.	none		0.567	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75528653	G	A	75528653	3	1	14	1	0	0	0	0	1	0	0	0	13996	1116	39	1	2325	1	SEC24C	10	75528653	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	37183653	75528653	60006094	151	3478										
MYST4	23522	hgsc.bcm.edu	37	chr10	76789942	76789942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctggctgaaatccccgagaCgagcaacgccaacattggct	11	13	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:76789942C>T	ENST00000287239.4	+	18	5849	c.5360C>T	c.(5359-5361)aCg>aTg	p.T1787M	KAT6B_ENST00000372724.1_Missense_Mutation_p.T1495M|KAT6B_ENST00000372725.1_Missense_Mutation_p.T1495M|KAT6B_ENST00000372714.1_Missense_Mutation_p.T1495M|KAT6B_ENST00000372711.1_Missense_Mutation_p.T1604M	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1787	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATCCCCGAGACGAGCAACGCC	0.592																																					p.T1787M		Atlas-SNP	.											MYST4,colon,carcinoma,0,1	.	.	1	0			c.C5360T						scavenged	.						55	54	54					10																	76789942		2203	4300	6503	SO:0001583	missense	23522	exon18			CCGAGACGAGCAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5360C>T	10.37:g.76789942C>T	ENSP00000287239:p.Thr1787Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	140	2	0.0142857	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150922	0.37923	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78595	-1.18;-1.18;-1.19;-1.18;-1.18	5.54	5.54	0.83059	.	0.251265	0.27876	N	0.017490	T	0.76962	0.4061	N	0.14661	0.345	0.34048	D	0.65577	D;P;P	0.76494	0.999;0.872;0.635	P;B;B	0.62014	0.897;0.337;0.294	D	0.84038	0.0363	10	0.72032	D	0.01	-0.0174	14.3331	0.66572	0.1483:0.8517:0.0:0.0	.	1604;1495;1787	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	M	1495;1495;1787;1495;1604	ENSP00000361810:T1495M;ENSP00000361809:T1495M;ENSP00000287239:T1787M;ENSP00000361799:T1495M;ENSP00000361796:T1604M	ENSP00000287239:T1787M	T	+	2	0	KAT6B	76459948	0.667000	0.27484	0.520000	0.27837	0.830000	0.47004	2.928000	0.48908	2.592000	0.87571	0.563000	0.77884	ACG	.	.	none		0.592	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76789942	C	T	76789942	3	4	14	1	0	0	0	0	1	0	0	0	10105	536	19	1	5422	1	MYST4	10	76789942	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1261289	76789942	58744805	152	3479										
PAPSS2	9060	hgsc.bcm.edu	37	chr10	89503202	89503202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttgatgcaggacactcgccGcaggctcctagagaggggct	15	11	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:89503202G>A	ENST00000361175.4	+	10	1649	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	427					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACACTCGCCGCAGGCTCCTA	0.582																																					p.R432H		Atlas-SNP	.											PAPSS2,NS,carcinoma,0,1	PAPSS2	46	1	0			c.G1295A						scavenged	.						108	104	106					10																	89503202		2203	4300	6503	SO:0001583	missense	9060	exon11			CTCGCCGCAGGCT	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1280G>A	10.37:g.89503202G>A	ENSP00000354436:p.Arg427His	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_001015880	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333777	0.81801	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.33	3.49	0.39957	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.094954	0.85682	D	0.000000	T	0.52517	0.1739	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.79784	0.938;0.993	T	0.53194	-0.8473	10	0.52906	T	0.07	-19.4179	11.5618	0.50780	0.1428:0.0:0.8572:0.0	.	427;432	O95340;O95340-2	PAPS2_HUMAN;.	H	427;432;431;431	ENSP00000354436:R427H;ENSP00000406157:R432H;ENSP00000397123:R431H	ENSP00000354436:R427H	R	+	2	0	PAPSS2	89493182	1.000000	0.71417	0.027000	0.17364	0.993000	0.82548	9.257000	0.95545	0.826000	0.34661	0.561000	0.74099	CGC	.	.	none		0.582	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			A	89503202	G	A	89503202	3	1	14	1	0	0	0	0	1	0	0	0	11435	1087	38	1	1337	1	PAPSS2	10	89503202	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	12713260	89503202	46031545	153	3480										
ABLIM1	3983	hgsc.bcm.edu	37	chr10	116331143	116331143	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctcccattgaatgtgactcGgtctccgggtggaaacgggc	13	11	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:116331143G>A	ENST00000277895.5	-	4	683	c.586C>T	c.(586-588)Cga>Tga	p.R196*	ABLIM1_ENST00000533213.2_Nonsense_Mutation_p.R136*|ABLIM1_ENST00000369252.4_Nonsense_Mutation_p.R136*	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	196	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		AATGTGACTCGGTCTCCGGGT	0.537																																					p.R196X		Atlas-SNP	.											.	ABLIM1	131	.	0			c.C586T						PASS	.						121	118	119					10																	116331143		2203	4300	6503	SO:0001587	stop_gained	3983	exon4			TGACTCGGTCTCC	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.586C>T	10.37:g.116331143G>A	ENSP00000277895:p.Arg196*	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	106	52	0.490566	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Nonsense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	39	7.324017	0.98210	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.	.	.	5.97	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8323	0.63389	0.0:0.0:0.7325:0.2675	.	.	.	.	X	196;136;136;136;196;120;120;120;196	.	ENSP00000277895:R196X	R	-	1	2	ABLIM1	116321133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.205000	0.58466	2.836000	0.97738	0.655000	0.94253	CGA	.	.	none		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			A	116331143	G	A	116331143	4	1	14	1	0	0	0	0	0	1	0	0	94	1124	39	1	1914	1	ABLIM1	10	116331143	Nonsense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	26827941	116331143	19203604	154	3481										
HSPA12A	259217	hgsc.bcm.edu	37	chr10	118464772	118464772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatgactgctgttctgagacGttggagtcagtgtcgttctg	13	7	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:118464772G>A	ENST00000369209.3	-	3	248	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	48						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTCTGAGACGTTGGAGTCAG	0.582																																					p.N48N		Atlas-SNP	.											.	HSPA12A	81	.	0			c.C144T						PASS	.						177	188	185					10																	118464772		2150	4269	6419	SO:0001819	synonymous_variant	259217	exon3			TGAGACGTTGGAG	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.144C>T	10.37:g.118464772G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	119	45	0.378151	NM_025015		Silent	SNP	ENST00000369209.3	37	CCDS41569.1																																																																																			.	.	none		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118464772	G	A	118464772	2	1	14	1	0	0	0	0	0	0	0	1	7404	1136	40	1		1	HSPA12A	10	118464772	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2133629	118464772	17069975	155	3482										
MKI67	4288	hgsc.bcm.edu	37	chr10	129903685	129903685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgtgtgtgtggtctgtgtgAgctgcttcagggctgagagc	17	7	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr10:129903685A>G	ENST00000368654.3	-	13	6794	c.6419T>C	c.(6418-6420)cTc>cCc	p.L2140P	MKI67_ENST00000368653.3_Missense_Mutation_p.L1780P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2140	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCTGTGTGAGCTGCTTCAG	0.502																																					p.L2140P		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	0			c.T6419C						scavenged	.						266	248	254					10																	129903685		2203	4300	6503	SO:0001583	missense	4288	exon13			TGTGTGAGCTGCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6419T>C	10.37:g.129903685A>G	ENSP00000357643:p.Leu2140Pro	Somatic	490	0	0		WXS	Illumina HiSeq	Phase_I	589	7	0.0118845	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905797	0.33628	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02369	4.32;4.32	3.96	-1.84	0.07809	.	2.418250	0.01969	N	0.043948	T	0.02727	0.0082	L	0.28608	0.87	0.09310	N	1	B;B;B	0.18741	0.022;0.026;0.03	B;B;B	0.22386	0.013;0.039;0.034	T	0.44081	-0.9351	10	0.27785	T	0.31	.	3.5257	0.07759	0.3387:0.0:0.1268:0.5346	.	2139;1780;2140	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	2140;1780;2139	ENSP00000357643:L2140P;ENSP00000357642:L1780P	ENSP00000357642:L1780P	L	-	2	0	MKI67	129793675	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.022000	0.12480	-0.396000	0.07703	0.459000	0.35465	CTC	.	.	none		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129903685	A	G	129903685	3	3	14	1	0	0	0	0	1	0	0	0	9598	304	11	3	3363	3	MKI67	10	129903685	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	11438913	129903685	5631062	156	3483										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	19	4	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																					p.P2011S		Atlas-SNP	.											MUC6_ENST00000421673,extremity,malignant_melanoma,0,1	MUC6	408	1	1	Substitution - Missense(1)	skin(1)	c.C6031T						scavenged	.																																			SO:0001583	missense	4588	exon31			AGAAAGGTGGAAC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic	1132	16	0.0141343		WXS	Illumina HiSeq	Phase_I	1279	24	0.0187647	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT	.	.	none		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	14	1	0	0	0	0	1	0	0	0	9980	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		1016770	133989746	157	3484										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093072	1093072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cacagaccccaaccccaacaGccatcaccaccaccactacg	3	22	1	1	rs12575990	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:1093072G>C	ENST00000441003.2	+	30	4918	c.4891G>C	c.(4891-4893)Gcc>Ccc	p.A1631P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.A1598P|MUC2_ENST00000333592.6_5'Flank	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)	aaccccaacagccatcaccac	0.627																																					p.A1631P		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.G4891C						scavenged	.						113	159	143					11																	1093072		1870	3587	5457	SO:0001583	missense	4583	exon30			CCAACAGCCATCA	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.4891G>C	11.37:g.1093072G>C	ENSP00000415183:p.Ala1631Pro	Somatic	39	9	0.230769		WXS	Illumina HiSeq	Phase_I	69	12	0.173913	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.747	-0.490205	0.04322	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11385	2.78;3.19	1.75	-3.51	0.04696	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.31617	T	0.26	.	4.9505	0.14011	0.473:0.205:0.3219:0.0	rs12575990;rs57525069	1631	E7EUV1	.	P	1631;1598	ENSP00000415183:A1631P;ENSP00000351956:A1598P	ENSP00000351956:A1598P	A	+	1	0	MUC2	1083072	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.737000	0.01843	-2.884000	0.00318	-2.023000	0.00429	GCC	.	.	weak		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093072	G	C	1093072	3	2	14	1	0	0	0	0	1	0	0	0	9975	971	34	4	5009	4	MUC2	11	1093072	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	76302	1093072	133913444	158	3485										
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643255	1643255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cccccacagccagagccacaGcccccacagccggagccaca	8	22	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagagccacagcccccacagc	0.687																																					p.G23G		Atlas-SNP	.											KRTAP5-4,NS,carcinoma,0,1	KRTAP5-4	78	1	1	Substitution - coding silent(1)	kidney(1)	c.C69T						scavenged	.						4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267	exon1			GCCACAGCCCCCA	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.69C>T	11.37:g.1643255G>A		Somatic	124	2	0.016129		WXS	Illumina HiSeq	Phase_I	165	8	0.0484848	NM_001012709		Silent	SNP	ENST00000399682.1	37																																																																																				.	.	none		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	14	1	0	0	0	0	0	0	0	1	8563	958	34	2		2	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	550183	1643255	133363261	159	3486										
OR52R1	119695	hgsc.bcm.edu	37	chr11	4825192	4825192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtttgatcacgaccgatgggGtcaggatgctagagtgtcgg	16	7	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:4825192G>A	ENST00000356069.2	-	1	418	c.419C>T	c.(418-420)aCc>aTc	p.T140I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.T219I	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	140						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGATGGGGTCAGGATGCT	0.567																																					p.T140I		Atlas-SNP	.											.	OR52R1	81	.	0			c.C419T						PASS	.						105	93	97					11																	4825192		2201	4298	6499	SO:0001583	missense	119695	exon1			GATGGGGTCAGGA	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.419C>T	11.37:g.4825192G>A	ENSP00000348368:p.Thr140Ile	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582644	0.46006	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00381	7.63;7.63	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.133368	0.33670	N	0.004668	T	0.01661	0.0053	H	0.97611	4.04	0.32673	N	0.51654	D	0.60160	0.987	P	0.57776	0.827	T	0.01961	-1.1239	10	0.87932	D	0	.	17.9523	0.89057	0.0:0.0:1.0:0.0	.	140	Q8NGF1	O52R1_HUMAN	I	140;219	ENSP00000348368:T140I;ENSP00000369742:T219I	ENSP00000348368:T140I	T	-	2	0	OR52R1	4781768	0.021000	0.18746	0.396000	0.26296	0.137000	0.21094	1.265000	0.33027	2.826000	0.97356	0.650000	0.86243	ACC	.	.	none		0.567	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		A	4825192	G	A	4825192	3	1	14	1	0	0	0	0	1	0	0	0	11131	1261	44	2	531	2	OR52R1	11	4825192	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	3181937	4825192	130181324	160	3487										
OR52E8	390079	hgsc.bcm.edu	37	chr11	5878458	5878458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagtggaacaaccatgtacaGgctcctcaggacagcaatgc	10	12	1	0	rs549924845	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:5878458G>A	ENST00000537935.1	-	1	506	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAGGCTCCTCAGG	0.507													G|||	10	0.00199681	0.0068	0.0	5008	,	,		18808	0.0		0.0	False		,,,				2504	0.001				p.L159L		Atlas-SNP	.											OR52E8,NS,carcinoma,0,1	OR52E8	54	1	0			c.C475T						scavenged	.						135	147	143					11																	5878458		2154	4296	6450	SO:0001819	synonymous_variant	390079	exon1			TGTACAGGCTCCT	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.475C>T	11.37:g.5878458G>A		Somatic	146	4	0.0273973		WXS	Illumina HiSeq	Phase_I	171	4	0.0233918	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.	.	none		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	14	1	0	0	0	0	0	0	0	1	11118	991	35	2		2	OR52E8	11	5878458	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1053266	5878458	129128058	161	3488										
COPB1	1315	hgsc.bcm.edu	37	chr11	14504615	14504615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagcaggatgctcttttaatTctatcaagcgatccaaaact	7	9	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:14504615T>C	ENST00000249923.3	-	8	1220	c.920A>G	c.(919-921)gAa>gGa	p.E307G	COPB1_ENST00000439561.2_Missense_Mutation_p.E307G	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	307					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTCTTTTAATTCTATCAAGCG	0.318																																					p.E307G		Atlas-SNP	.											.	COPB1	81	.	0			c.A920G						PASS	.						82	77	79					11																	14504615		2199	4293	6492	SO:0001583	missense	1315	exon8			TTTAATTCTATCA	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.920A>G	11.37:g.14504615T>C	ENSP00000249923:p.Glu307Gly	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	40	4	0.1	NM_001144062	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011321	0.75046	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.26957	1.7;1.7;1.7	5.56	5.56	0.83823	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	L	0.56769	1.78	0.80722	D	1	B	0.20459	0.045	B	0.26614	0.071	T	0.04053	-1.0981	10	0.33940	T	0.23	.	15.7137	0.77652	0.0:0.0:0.0:1.0	.	307	P53618	COPB_HUMAN	G	307	ENSP00000249923:E307G;ENSP00000397873:E307G;ENSP00000436383:E307G	ENSP00000249923:E307G	E	-	2	0	COPB1	14461191	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.018000	0.88722	2.118000	0.64928	0.482000	0.46254	GAA	.	.	none		0.318	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14504615	T	C	14504615	3	2	14	1	0	0	0	0	1	0	0	0	3728	1783	62	2	2001	2	COPB1	11	14504615	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	8626157	14504615	120501901	162	3489										
KCNC1	3746	hgsc.bcm.edu	37	chr11	17793670	17793670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acgctccgagccagcaccaaCgagttcctgctgctcatcat	8	16	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:17793670C>T	ENST00000379472.3	+	2	1059	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	KCNC1_ENST00000265969.6_Silent_p.N343N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	343					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)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCAGCACCAACGAGTTCCTGC	0.617																																					p.N343N		Atlas-SNP	.											.	KCNC1	149	.	0			c.C1029T						PASS	.						37	35	36					11																	17793670		2200	4293	6493	SO:0001819	synonymous_variant	3746	exon2			CACCAACGAGTTC	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1029C>T	11.37:g.17793670C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	64	31	0.484375	NM_004976	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																			.	.	none		0.617	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		T	17793670	C	T	17793670	2	4	14	1	0	0	0	0	0	0	0	1	8014	535	19	1		1	KCNC1	11	17793670	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3289055	17793670	117212846	163	3490										
NELL1	4745	hgsc.bcm.edu	37	chr11	21594748	21594748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caggaaggagaggtagattgCtggccactcacttgccccaa	12	11	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:21594748C>T	ENST00000357134.5	+	19	2327	c.2175C>T	c.(2173-2175)tgC>tgT	p.C725C	NELL1_ENST00000298925.5_Silent_p.C753C|NELL1_ENST00000325319.5_Silent_p.C668C|NELL1_ENST00000532434.1_Silent_p.C678C|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	725	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGTAGATTGCTGGCCACTCA	0.448																																					p.C725C		Atlas-SNP	.											NELL1,NS,carcinoma,0,1	NELL1	179	1	0			c.C2175T						scavenged	.						81	80	81					11																	21594748		2203	4300	6503	SO:0001819	synonymous_variant	4745	exon19			AGATTGCTGGCCA	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2175C>T	11.37:g.21594748C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	148	3	0.0202703	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	CCDS7855.1																																																																																			.	.	none		0.448	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21594748	C	T	21594748	2	4	14	1	0	0	0	0	0	0	0	1	10333	805	28	2		2	NELL1	11	21594748	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3801078	21594748	113411768	164	3491										
NAT10	55226	hgsc.bcm.edu	37	chr11	34144051	34144051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agggcatctctgaaaagaccCtgaggagtactgttgcactc	11	10	1	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:34144051C>T	ENST00000257829.3	+	9	1032	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	NAT10_ENST00000531159.2_Silent_p.L204L|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	276						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGAAAAGACCCTGAGGAGTAC	0.507																																					p.L276L		Atlas-SNP	.											NAT10,right_lower_lobe,carcinoma,-2,1	NAT10	78	1	0			c.C826T						scavenged	.						87	87	87					11																	34144051		2202	4298	6500	SO:0001819	synonymous_variant	55226	exon9			AAGACCCTGAGGA	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.826C>T	11.37:g.34144051C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	152	4	0.0263158	NM_024662	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	CCDS7889.1																																																																																			.	.	none		0.507	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		T	34144051	C	T	34144051	2	4	14	1	0	0	0	0	0	0	0	1	10174	680	24	2		2	NAT10	11	34144051	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	12549303	34144051	100862465	165	3492										
TTC17	55761	hgsc.bcm.edu	37	chr11	43425620	43425620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatcaaatcagagtgatatcAatgattcggtcaagtcttct	7	7	6	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:43425620A>G	ENST00000039989.4	+	11	1419	c.1405A>G	c.(1405-1407)Aat>Gat	p.N469D	TTC17_ENST00000299240.6_Missense_Mutation_p.N469D|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	469					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGTGATATCAATGATTCGGT	0.398																																					p.N469D		Atlas-SNP	.											TTC17,NS,carcinoma,-1,1	TTC17	112	1	0			c.A1405G						scavenged	.						163	148	153					11																	43425620		2203	4300	6503	SO:0001583	missense	55761	exon11			GATATCAATGATT	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1405A>G	11.37:g.43425620A>G	ENSP00000039989:p.Asn469Asp	Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	211	3	0.014218	NM_018259	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770495	0.31320	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.29397	1.57;1.57	5.83	5.83	0.93111	.	0.270136	0.47093	D	0.000242	T	0.21921	0.0528	N	0.22421	0.69	0.23056	N	0.998365	B;B;B	0.18741	0.003;0.03;0.012	B;B;B	0.21151	0.009;0.011;0.033	T	0.14504	-1.0470	10	0.15952	T	0.53	-1.6142	14.7708	0.69675	1.0:0.0:0.0:0.0	.	469;469;469	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	D	469	ENSP00000299240:N469D;ENSP00000039989:N469D	ENSP00000039989:N469D	N	+	1	0	TTC17	43382196	1.000000	0.71417	0.765000	0.31456	0.526000	0.34562	3.388000	0.52509	2.240000	0.73641	0.528000	0.53228	AAT	.	.	none		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		G	43425620	A	G	43425620	3	3	14	1	0	0	0	0	1	0	0	0	16681	130	5	2	1447	2	TTC17	11	43425620	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	9281569	43425620	91580896	166	3493										
MAPK8IP1	9479	hgsc.bcm.edu	37	chr11	45926727	45926727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttgggttcatcaccaagcacCccgccgaccaccggtttgcc	9	17	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:45926727C>T	ENST00000241014.2	+	11	2160	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.P654S|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	664	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CACCAAGCACCCCGCCGACCA	0.632																																					p.P664S		Atlas-SNP	.											MAPK8IP1,hand,carcinoma,-1,3	MAPK8IP1	51	3	0			c.C1990T						scavenged	.						62	60	61					11																	45926727		2203	4299	6502	SO:0001583	missense	9479	exon11			AAGCACCCCGCCG		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1990C>T	11.37:g.45926727C>T	ENSP00000241014:p.Pro664Ser	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	120	4	0.0333333	NM_005456	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053254	0.93793	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.15139	2.45;2.45	5.02	5.02	0.67125	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.056060	0.64402	D	0.000001	T	0.36908	0.0984	L	0.60455	1.87	0.80722	D	1	D	0.54397	0.966	P	0.59643	0.861	T	0.06356	-1.0831	10	0.87932	D	0	-10.9472	18.8901	0.92397	0.0:1.0:0.0:0.0	.	664	Q9UQF2	JIP1_HUMAN	S	664;654	ENSP00000241014:P664S;ENSP00000378991:P654S	ENSP00000241014:P664S	P	+	1	0	MAPK8IP1	45883303	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.589000	0.82641	2.775000	0.95449	0.655000	0.94253	CCC	.	.	none		0.632	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		T	45926727	C	T	45926727	3	4	14	1	0	0	0	0	1	0	0	0	9284	623	22	2	2032	2	MAPK8IP1	11	45926727	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	2501107	45926727	89079789	167	3494										
OR4C6	219432	hgsc.bcm.edu	37	chr11	55433333	55433333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agtcttacagctctaaagggCggcacaaagccctctctacc	8	14	3	0	rs140747151	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:55433333C>T	ENST00000314259.3	+	1	720	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCTAAAGGGCGGCACAAAGC	0.502													c|||	2	0.000399361	0.0	0.0	5008	,	,		18006	0.0		0.002	False		,,,				2504	0.0				p.R231W		Atlas-SNP	.											OR4C6,middle_lobe,carcinoma,0,4	OR4C6	114	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C691T						PASS	.	C	TRP/ARG	0,4400		0,0,2200	132	126	128		691	-8.1	0	11	dbSNP_134	128	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR4C6	NM_001004704.1	101	0,3,6493	TT,TC,CC		0.0349,0.0,0.0231	benign	231/310	55433333	3,12989	2200	4296	6496	SO:0001583	missense	219432	exon1			AAAGGGCGGCACA	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.691C>T	11.37:g.55433333C>T	ENSP00000324769:p.Arg231Trp	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	172	68	0.395349	NM_001004704	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.384	0.256036	0.10185	0.0	3.49E-4	ENSG00000181903	ENST00000314259	T	0.00335	8.06	4.07	-8.14	0.01069	GPCR, rhodopsin-like superfamily (1);	0.754623	0.10587	N	0.657205	T	0.00328	0.0010	M	0.87971	2.92	0.09310	N	1	B	0.22146	0.065	B	0.26693	0.072	T	0.27773	-1.0064	10	0.72032	D	0.01	.	6.9124	0.24342	0.6124:0.1383:0.0:0.2493	.	231	Q8NH72	OR4C6_HUMAN	W	231	ENSP00000324769:R231W	ENSP00000324769:R231W	R	+	1	2	OR4C6	55189909	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.913000	0.00170	-1.249000	0.02500	0.543000	0.68304	CGG	C|0.999;T|0.001	0.001	strong		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		T	55433333	C	T	55433333	3	4	14	1	0	0	0	0	1	0	0	0	11052	759	27	1	693	1	OR4C6	11	55433333	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9506606	55433333	79573183	168	3495										
OR4C6	219432	hgsc.bcm.edu	37	chr11	55433434	55433434	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aggcctgtggtcactcacccCatagacaaggcaatggctgt	11	12	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:55433434C>A	ENST00000314259.3	+	1	821	c.792C>A	c.(790-792)ccC>ccA	p.P264P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P264P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACTCACCCCATAGACAAGG	0.483																																					p.P264P		Atlas-SNP	.											OR4C6,NS,carcinoma,0,1	OR4C6	114	1	1	Substitution - coding silent(1)	lung(1)	c.C792A						PASS	.						105	103	104					11																	55433434		2200	4296	6496	SO:0001819	synonymous_variant	219432	exon1			TCACCCCATAGAC	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.792C>A	11.37:g.55433434C>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	146	64	0.438356	NM_001004704	B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	CCDS31506.1																																																																																			.	.	none		0.483	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		A	55433434	C	A	55433434	2	1	14	1	0	0	0	0	0	0	0	1	11052	581	21	4		4	OR4C6	11	55433434	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	101	55433434	79573082	169	3496										
CDC42BPG	55561	hgsc.bcm.edu	37	chr11	64597205	64597205	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcgcccacacatagccggtcGcccagcagccccaggctctg	11	19	1	0	rs7936466	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:64597205G>T	ENST00000342711.5	-	30	3704	c.3705C>A	c.(3703-3705)ggC>ggA	p.G1235G	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATAGCCGGTCGCCCAGCAGCC	0.716													G|||	1371	0.273762	0.0439	0.2147	5008	,	,		14616	0.4931		0.2555	False		,,,				2504	0.4192				p.G1235G		Atlas-SNP	.											.	CDC42BPG	101	.	0			c.C3705A						PASS	.	G		328,3866		16,296,1785	7	9	8		3705	-0.6	1	11	dbSNP_116	8	1926,6434		211,1504,2465	no	coding-synonymous	CDC42BPG	NM_017525.2		227,1800,4250	TT,TG,GG		23.0383,7.8207,17.9544		1235/1552	64597205	2254,10300	2097	4180	6277	SO:0001819	synonymous_variant	55561	exon30			CCGGTCGCCCAGC	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3705C>A	11.37:g.64597205G>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	5	0.625	NM_017525		Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																			G|0.734;T|0.266	0.266	strong		0.716	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64597205	G	T	64597205	2	4	14	1	0	0	0	0	0	0	0	1	3074	1074	38	4		4	CDC42BPG	11	64597205	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	9163771	64597205	70409311	170	3497										
SPTBN2	6712	hgsc.bcm.edu	37	chr11	66472275	66472275	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccagggtgggcacccggctCtgcacctcgggcgtgcggct	16	15	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:66472275C>T	ENST00000533211.1	-	15	2803	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q	SPTBN2_ENST00000309996.2_Silent_p.Q824Q|SPTBN2_ENST00000529997.1_Silent_p.Q824Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	824					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCACCCGGCTCTGCACCTCGG	0.716																																					p.Q824Q		Atlas-SNP	.											SPTBN2,right_lower_lobe,carcinoma,0,1	SPTBN2	188	1	0			c.G2472A						scavenged	.						13	14	14					11																	66472275		2184	4272	6456	SO:0001819	synonymous_variant	6712	exon14			CCGGCTCTGCACC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2472G>A	11.37:g.66472275C>T		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	20	2	0.1	NM_006946	O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																			.	.	none		0.716	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66472275	C	T	66472275	2	4	14	1	0	0	0	0	0	0	0	1	15119	912	32	2		2	SPTBN2	11	66472275	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1875070	66472275	68534241	171	3498										
LRP5	4041	hgsc.bcm.edu	37	chr11	68171003	68171003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctcctggaggacaagctccCgcacatttttgggttcacgc	10	14	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:68171003C>T	ENST00000294304.7	+	8	1743	c.1637C>T	c.(1636-1638)cCg>cTg	p.P546L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	546	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAAGCTCCCGCACATTTTT	0.602																																					p.P546L		Atlas-SNP	.											LRP5,NS,carcinoma,-1,1	LRP5	136	1	0			c.C1637T						scavenged	.						100	82	88					11																	68171003		2200	4294	6494	SO:0001583	missense	4041	exon8			AGCTCCCGCACAT	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1637C>T	11.37:g.68171003C>T	ENSP00000294304:p.Pro546Leu	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	192	2	0.0104167	NM_002335	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611938	0.87258	.	.	ENSG00000162337	ENST00000294304	D	0.95622	-3.76	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	U	0.000174	D	0.96926	0.8996	M	0.67569	2.06	0.80722	D	1	D	0.63880	0.993	D	0.63703	0.917	D	0.97633	1.0143	10	0.87932	D	0	.	16.9721	0.86303	0.0:1.0:0.0:0.0	.	546	O75197	LRP5_HUMAN	L	546	ENSP00000294304:P546L	ENSP00000294304:P546L	P	+	2	0	LRP5	67927579	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	7.514000	0.81750	2.321000	0.78463	0.650000	0.86243	CCG	.	.	none		0.602	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68171003	C	T	68171003	3	4	14	1	0	0	0	0	1	0	0	0	8960	652	23	1	1667	1	LRP5	11	68171003	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1698728	68171003	66835513	172	3499										
KIAA1377	57562	hgsc.bcm.edu	37	chr11	101834522	101834522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgtttgtgaagaaagttatcCgtctgtgactctaagaactg	10	6	2	4	rs370774279		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:101834522C>T	ENST00000263468.8	+	6	3026	c.2756C>T	c.(2755-2757)cCg>cTg	p.P919L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.P720L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	919										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAAGTTATCCGTCTGTGACT	0.403																																					p.P919L		Atlas-SNP	.											KIAA1377,NS,carcinoma,-1,2	KIAA1377	111	2	0			c.C2756T						PASS	.	C	LEU/PRO	0,4406		0,0,2203	88	94	92		2756	0.1	0	11		92	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIAA1377	NM_020802.2	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	919/1118	101834522	1,13003	2203	4299	6502	SO:0001583	missense	57562	exon6			GTTATCCGTCTGT	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2756C>T	11.37:g.101834522C>T	ENSP00000263468:p.Pro919Leu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	65	0.485075	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	4.369	0.067932	0.08436	0.0	1.16E-4	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06068	3.35;3.35	5.51	0.134	0.14771	.	0.796339	0.11112	N	0.598499	T	0.05868	0.0153	L	0.47716	1.5	0.09310	N	1	B	0.32425	0.371	B	0.19148	0.024	T	0.33879	-0.9851	10	0.08599	T	0.76	3.4773	16.234	0.82361	0.3611:0.6389:0.0:0.0	.	919	Q9P2H0	K1377_HUMAN	L	919;720	ENSP00000263468:P919L;ENSP00000443184:P720L	ENSP00000263468:P919L	P	+	2	0	KIAA1377	101339732	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.508000	0.22692	0.123000	0.18342	-0.266000	0.10368	CCG	.	.	weak		0.403	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		T	101834522	C	T	101834522	3	4	14	1	0	0	0	0	1	0	0	0	8227	652	23	1	2778	1	KIAA1377	11	101834522	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	33663519	101834522	33171994	173	3500										
C11orf88	399949	hgsc.bcm.edu	37	chr11	111385703	111385703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agacagcagtcagcgtctgcCggtggcgcggcccaggagga	17	12	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:111385703C>T	ENST00000375618.4	+	1	194	c.194C>T	c.(193-195)cCg>cTg	p.P65L	C11orf88_ENST00000529167.1_Missense_Mutation_p.P65L|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.P65L|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	65										endometrium(1)|large_intestine(3)|lung(2)	6						CAGCGTCTGCCGGTGGCGCGG	0.597											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P65L		Atlas-SNP	.											.	C11orf88	37	.	0			c.C194T						PASS	.						40	47	44					11																	111385703		2153	4278	6431	SO:0001583	missense	399949	exon1			GTCTGCCGGTGGC	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"hypothetical gene supported by BC039505"					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.194C>T	11.37:g.111385703C>T	ENSP00000364768:p.Pro65Leu	Somatic	50	0	0	1434	WXS	Illumina HiSeq	Phase_I	59	28	0.474576	NM_001100388	E9PAN0|Q6ZRL3	Missense_Mutation	SNP	ENST00000375618.4	37	CCDS41713.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342184	0.41498	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	5.09	0.987	0.19790	.	0.159222	0.40144	N	0.001171	T	0.72598	0.3480	M	0.66939	2.045	0.44677	D	0.997668	D;D	0.76494	0.999;0.996	P;P	0.60886	0.88;0.866	T	0.74850	-0.3524	9	0.62326	D	0.03	-1.5825	14.7899	0.69833	0.0:0.4087:0.5913:0.0	.	65;65	E9PAN0;Q6PI97	.;CK088_HUMAN	L	65	.	ENSP00000333845:P65L	P	+	2	0	C11orf88	110890913	0.097000	0.21791	0.804000	0.32291	0.030000	0.12068	0.229000	0.17833	0.033000	0.15463	-0.282000	0.10007	CCG	.	.	none		0.597	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		T	111385703	C	T	111385703	3	4	14	1	0	0	0	0	1	0	0	0	1670	652	23	1	196	1	C11orf88	11	111385703	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9551181	111385703	23620813	174	3501										
DSCAML1	57453	hgsc.bcm.edu	37	chr11	117374656	117374656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcctcttctaggacgtggcGgatcagcagcgagctgttgg	15	10	3	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:117374656G>A	ENST00000321322.6	-	11	2444	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	755	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACGTGGCGGATCAGCAGC	0.607																																					p.R815C		Atlas-SNP	.											DSCAML1,NS,carcinoma,+1,1	DSCAML1	286	1	0			c.C2443T						PASS	.						110	91	97					11																	117374656		2201	4296	6497	SO:0001583	missense	57453	exon11			CGTGGCGGATCAG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2443C>T	11.37:g.117374656G>A	ENSP00000315465:p.Arg815Cys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	134	65	0.485075	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192049	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82944	0.5147	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86461	0.1779	9	0.66056	D	0.02	.	16.9369	0.86205	0.0:0.0:1.0:0.0	.	755	Q8TD84	DSCL1_HUMAN	C	545;815;522	ENSP00000434335:R545C;ENSP00000315465:R815C	ENSP00000315465:R815C	R	-	1	0	DSCAML1	116879866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.560000	0.53763	2.237000	0.73441	0.462000	0.41574	CGC	.	.	none		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117374656	G	A	117374656	3	1	14	1	0	0	0	0	1	0	0	0	4769	1116	39	1	3990	1	DSCAML1	11	117374656	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	5988953	117374656	17631860	175	3502										
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789313	117789327	+	In_Frame_Del	DEL	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT	-													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgccagagccggagatgcccGggctggagatgcctgggctg					rs577467360|rs201746372|rs200205086|rs61900346|rs371814093|rs58754377|rs201983451|rs368164118|rs201369736	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:117789313_117789327delGGGCTGGAGATGCCT	ENST00000430170.2	-	2	335_349	c.248_262delAGGCATCTCCAGCCC	c.(247-264)caggcatctccagcccgg>cgg	p.QASPA83del	TMPRSS13_ENST00000526090.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000524993.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000528626.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.QASPA83del	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	83	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGAGATGCCCGGGCTGGAGATGCCTGGGCTGGAGA	0.66																																					p.83_88del		Pindel	.											TMPRSS13_ENST00000445164,NS,NS,0,3	TMPRSS13	75	3	1	Deletion - In frame(1)	urinary_tract(1)	c.249_263del						PASS	.		,,	2974,624		1262,450,87					,,	0	0		dbSNP_126	58	5904,1944		2214,1476,234	no	coding,coding,coding	TMPRSS13	NM_001206790.1,NM_001206789.1,NM_001077263.2	,,	3476,1926,321	A1A1,A1R,RR		24.7706,17.343,22.4358	,,	,,		8878,2568				SO:0001651	inframe_deletion	84000	exon2			.	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.248_262delAGGCATCTCCAGCCC	11.37:g.117789313_117789327delGGGCTGGAGATGCCT	ENSP00000387702:p.Gln83_Ala87del	Somatic	97	.	.		WXS	Illumina HiSeq	Phase_I	115	27	0.235	NM_001206789	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	In_Frame_Del	DEL	ENST00000430170.2	37	CCDS58185.1																																																																																			GGGCTGGAGATGCCT|0.257;-|0.743	0.743	strong		0.66	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		-	117789327	GGGCTGGAGATGCCT	-	117789313	7	5	14	1	0	1	0	1	0	0	0	0	16242	1115	39	0	1489	0	TMPRSS13	11	117789313	In_Frame_Del	DEL	GGGCTGGAGATGCCT	TCGA-FF-8047-01A-11D-2210-10	414657	117789313	17217203	176	3503										
MLL	4297	hgsc.bcm.edu	37	chr11	118371761	118371761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcgctgtgtatatacatgcaAgatagtggagtgccgtcctc	12	9	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:118371761A>G	ENST00000389506.5	+	25	6209	c.6209A>G	c.(6208-6210)aAg>aGg	p.K2070R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K2073R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2032R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2070	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TATACATGCAAGATAGTGGAG	0.468																																					p.K2073R		Atlas-SNP	.											.	MLL	548	.	0			c.A6218G						PASS	.						150	118	129					11																	118371761		2200	4296	6496	SO:0001583	missense	4297	exon25			CATGCAAGATAGT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6209A>G	11.37:g.118371761A>G	ENSP00000374157:p.Lys2070Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	121	25	0.206612	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485424	0.63962	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.77358	-1.09;-1.09;-1.09	5.83	5.83	0.93111	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.047613	0.85682	D	0.000000	T	0.56124	0.1964	N	0.02842	-0.48	0.53005	D	0.999968	B;B	0.30326	0.276;0.219	B;B	0.35278	0.199;0.138	T	0.60383	-0.7274	10	0.02654	T	1	.	16.2011	0.82078	1.0:0.0:0.0:0.0	.	2073;2070	E9PQG7;Q03164	.;MLL1_HUMAN	R	2073;2070;2032;980	ENSP00000436786:K2073R;ENSP00000374157:K2070R;ENSP00000346516:K2032R	ENSP00000346516:K2032R	K	+	2	0	MLL	117876971	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.135000	0.71696	2.219000	0.72066	0.482000	0.46254	AAG	.	.	none		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118371761	A	G	118371761	3	3	14	1	0	0	0	0	1	0	0	0	9620	72	3	3	6307	3	MLL	11	118371761	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	582448	118371761	16634755	177	3504										
HYOU1	10525	hgsc.bcm.edu	37	chr11	118917360	118917360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcccattcttgtccttaggcCggggccggggcttggtaaac	13	12	1	0	rs143927145		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:118917360C>T	ENST00000404233.3	-	23	2874	c.2750G>A	c.(2749-2751)cGg>cAg	p.R917Q	HYOU1_ENST00000525859.1_Missense_Mutation_p.R855Q|HYOU1_ENST00000529972.1_Missense_Mutation_p.R855Q|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	917					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GTCCTTAGGCCGGGGCCGGGG	0.572																																					p.R917Q		Atlas-SNP	.											HYOU1,NS,carcinoma,-1,1	HYOU1	88	1	0			c.G2750A						scavenged	.						104	106	105					11																	118917360		2200	4295	6495	SO:0001583	missense	10525	exon23			TTAGGCCGGGGCC	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2750G>A	11.37:g.118917360C>T	ENSP00000384144:p.Arg917Gln	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642054	0.29157	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01304	5.06;5.03;5.03	6.04	5.13	0.70059	.	0.200699	0.45867	D	0.000328	T	0.01189	0.0039	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.41710	0.663;0.76;0.663;0.663	B;B;B;B	0.25614	0.054;0.062;0.054;0.054	T	0.66248	-0.5971	10	0.46703	T	0.11	-15.1767	5.3873	0.16224	0.0:0.6236:0.1527:0.2238	.	908;899;917;917	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	917;908;855;766;855;898	ENSP00000384144:R917Q;ENSP00000437313:R855Q;ENSP00000433397:R855Q	ENSP00000278752:R908Q	R	-	2	0	HYOU1	118422570	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	2.355000	0.44107	1.568000	0.49683	0.561000	0.74099	CGG	C|1.000;A|0.000	.	alt		0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		T	118917360	C	T	118917360	3	4	14	1	0	0	0	0	1	0	0	0	7470	652	23	1	265	1	HYOU1	11	118917360	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	545599	118917360	16089156	178	3505										
SORL1	6653	hgsc.bcm.edu	37	chr11	121429298	121429298	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttctgtccccattttcgctAgggtgatgttctggacagac	11	10	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:121429298A>G	ENST00000260197.7	+	20	2792		c.e20-1			NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATTTTCGCTAGGGTGATGTT	0.473																																					.		Atlas-SNP	.											.	SORL1	218	.	0			c.2664-2A>G						PASS	.						168	163	164					11																	121429298		2203	4299	6502	SO:0001630	splice_region_variant	6653	exon20			TTCGCTAGGGTGA	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2664-1A>G	11.37:g.121429298A>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	101	37	0.366337	NM_003105	B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160296	0.57368	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORL1	120934508	1.000000	0.71417	0.337000	0.25536	0.644000	0.38419	9.087000	0.94110	2.105000	0.64084	0.533000	0.62120	.	.	.	none		0.473	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Intron	G	121429298	A	G	121429298	5	3	14	1	0	0	0	0	0	0	1	0	14934	434	15	3	2740	3	SORL1	11	121429298	Splice_Site	SNP	A	TCGA-FF-8047-01A-11D-2210-10	2511938	121429298	13577218	179	3506										
GLB1L3	112937	hgsc.bcm.edu	37	chr11	134188798	134188798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgtttgagaagatgatgagtGgctcagatatcaaatctaca	10	5	3	5			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr11:134188798G>A	ENST00000431683.2	+	20	1924	c.1924G>A	c.(1924-1926)Ggc>Agc	p.G642S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	642					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GATGATGAGTGGCTCAGATAT	0.413																																					p.G642S		Atlas-SNP	.											.	GLB1L3	102	.	0			c.G1924A						PASS	.						116	106	109					11																	134188798		1871	4118	5989	SO:0001583	missense	112937	exon20			ATGAGTGGCTCAG		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1924G>A	11.37:g.134188798G>A	ENSP00000396615:p.Gly642Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579506	0.65878	.	.	ENSG00000166105	ENST00000431683	D	0.95588	-3.75	5.14	5.14	0.70334	Galactose-binding domain-like (1);	0.237649	0.44097	D	0.000491	D	0.88952	0.6577	N	0.11845	0.185	0.19575	N	0.999964	P	0.37824	0.609	B	0.34590	0.186	T	0.81874	-0.0732	10	0.30854	T	0.27	.	14.3466	0.66668	0.0:0.0:1.0:0.0	.	642	Q8NCI6	GLBL3_HUMAN	S	642	ENSP00000396615:G642S	ENSP00000396615:G642S	G	+	1	0	GLB1L3	133694008	0.566000	0.26618	0.093000	0.20910	0.010000	0.07245	2.785000	0.47782	2.844000	0.97970	0.650000	0.86243	GGC	.	.	none		0.413	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		A	134188798	G	A	134188798	3	1	14	1	0	0	0	0	1	0	0	0	6430	1348	47	2	2002	2	GLB1L3	11	134188798	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	12759500	134188798	817718	180	3507										
B4GALNT3	283358	hgsc.bcm.edu	37	chr12	661327	661327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaaaacgcctactaccaagaCcggtgagagacactgagtgg	12	10	0	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:661327C>T	ENST00000266383.5	+	12	1219	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	402					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACTACCAAGACCGGTGAGAGA	0.562																																					p.D402D		Atlas-SNP	.											B4GALNT3,NS,carcinoma,+1,1	B4GALNT3	64	1	0			c.C1206T						scavenged	.						85	80	82					12																	661327		2203	4300	6503	SO:0001819	synonymous_variant	283358	exon12			CCAAGACCGGTGA	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1206C>T	12.37:g.661327C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	171	2	0.0116959	NM_173593	Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																			.	.	none		0.562	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	661327	C	T	661327	2	4	14	1	0	0	0	0	0	0	0	1	1268	506	18	2		2	B4GALNT3	12	661327	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10		661327	133190568	181	3508										
RAD51AP1	10635	hgsc.bcm.edu	37	chr12	4668142	4668142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagttaaacctttgcatccaAatgccactagcacctgagtg	8	11	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:4668142A>G	ENST00000352618.4	+	9	1041	c.991A>G	c.(991-993)Aat>Gat	p.N331D	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.N229D|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.N298D|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.N348D|RAD51AP1_ENST00000544931.1_3'UTR	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TTTGCATCCAAATGCCACTAG	0.458																																					p.N348D		Atlas-SNP	.											.	RAD51AP1	30	.	0			c.A1042G						PASS	.						128	118	121					12																	4668142		2203	4300	6503	SO:0001583	missense	10635	exon10			CATCCAAATGCCA	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.991A>G	12.37:g.4668142A>G	ENSP00000309479:p.Asn331Asp	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	70	29	0.414286	NM_001130862		Missense_Mutation	SNP	ENST00000352618.4	37	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399685	0.42512	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T;T;T;T	0.48201	1.0;1.0;0.82;0.82	4.32	4.32	0.51571	.	0.680081	0.13888	N	0.355802	T	0.42449	0.1203	L	0.58101	1.795	0.30391	N	0.780976	P;B;B;P	0.41848	0.763;0.341;0.341;0.634	B;B;B;B	0.36608	0.229;0.08;0.08;0.178	T	0.52132	-0.8616	10	0.59425	D	0.04	-4.8877	9.7988	0.40751	1.0:0.0:0.0:0.0	.	229;348;348;331	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	D	298;229;348;331	ENSP00000323750:N298D;ENSP00000439960:N229D;ENSP00000228843:N348D;ENSP00000309479:N331D	ENSP00000228843:N348D	N	+	1	0	RAD51AP1	4538403	0.581000	0.26741	0.803000	0.32268	0.451000	0.32288	1.716000	0.37981	1.809000	0.52856	0.533000	0.62120	AAT	.	.	none		0.458	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		G	4668142	A	G	4668142	3	3	14	1	0	0	0	0	1	0	0	0	12986	14	1	2	1080	2	RAD51AP1	12	4668142	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	4006815	4668142	129183753	182	3509										
C1S	716	hgsc.bcm.edu	37	chr12	7170336	7170336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agacttttccaatgaagagcGttttacggggtttgctgcat	11	7	0	3	rs12146727	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:7170336G>A	ENST00000406697.1	+	7	984	c.356G>A	c.(355-357)cGt>cAt	p.R119H	C1S_ENST00000328916.3_Missense_Mutation_p.R119H|C1S_ENST00000360817.5_Missense_Mutation_p.R119H|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	119	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> H (in dbSNP:rs12146727).		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AATGAAGAGCGTTTTACGGGG	0.443													G|||	513	0.102436	0.093	0.0937	5008	,	,		-128	0.0923		0.1292	False		,,,				2504	0.1043				p.R119H	GBM(156;750 1943 12971 24779 31015)	Atlas-SNP	.											.	C1S	93	.	0			c.G356A						PASS	.	G	HIS/ARG,HIS/ARG	455,3951	215.8+/-234.7	29,397,1777	129	120	123		356,356	5.2	1	12	dbSNP_120	123	1135,7465	234.6+/-267.5	89,957,3254	yes	missense,missense	C1S	NM_001734.3,NM_201442.2	29,29	118,1354,5031	AA,AG,GG		13.1977,10.3268,12.2251	probably-damaging,probably-damaging	119/689,119/689	7170336	1590,11416	2203	4300	6503	SO:0001583	missense	716	exon4			AAGAGCGTTTTAC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.356G>A	12.37:g.7170336G>A	ENSP00000385035:p.Arg119His	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	127	42	0.330709	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	237	0.10851648351648352	47	0.09552845528455285	42	0.11602209944751381	47	0.08216783216783216	101	0.13324538258575197	G	26.9	4.784891	0.90282	0.103268	0.131977	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000403949	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	6.04	5.15	0.70609	CUB (5);	0.172751	0.28021	N	0.016916	T	0.00384	0.0012	M	0.84082	2.675	0.09310	P	1.0	P	0.52692	0.955	P	0.45071	0.468	T	0.12116	-1.0560	9	0.72032	D	0.01	.	15.4346	0.75137	0.0663:0.0:0.9337:0.0	rs12146727;rs52805025;rs12146727	119	P09871	C1S_HUMAN	H	119;119;119;101;119	ENSP00000385035:R119H;ENSP00000328173:R119H;ENSP00000354057:R119H;ENSP00000384464:R119H	ENSP00000328173:R119H	R	+	2	0	C1S	7040597	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	3.781000	0.55394	1.571000	0.49722	0.561000	0.74099	CGT	G|0.885;A|0.115	0.115	strong		0.443	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7170336	G	A	7170336	3	1	14	1	0	0	0	0	1	0	0	0	1974	1145	40	1	366	1	C1S	12	7170336	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2502194	7170336	126681559	183	3510										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546395	11546395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaggtttgttgcctccttgtGggggtggtccttgtggcttt	16	7	0	0	rs11054277	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:11546395G>T	ENST00000389362.4	-	3	652	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602													g|||	257	0.0513179	0.0091	0.062	5008	,	,		19479	0.0804		0.1113	False		,,,				2504	0.0092				p.P206Q		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	lung(2)	c.C617A						scavenged	.						68	78	75					12																	11546395		2075	4125	6200	SO:0001583	missense	653247	exon3			CCTTGTGGGGGTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.617C>A	12.37:g.11546395G>T	ENSP00000374013:p.Pro206Gln	Somatic	253	2	0.00790514		WXS	Illumina HiSeq	Phase_I	286	5	0.0174825	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239350	0.39598	.	.	ENSG00000121335	ENST00000389362	T	0.04551	3.6	1.46	-2.65	0.06095	.	0.000000	0.35466	U	0.003186	T	0.04907	0.0132	L	0.33792	1.035	0.22888	N	0.998607	D	0.59357	0.985	P	0.52031	0.688	T	0.29882	-0.9997	10	0.42905	T	0.14	.	3.3379	0.07107	0.2091:0.2667:0.5243:0.0	.	206	P02812	PRB2_HUMAN	Q	206	ENSP00000374013:P206Q	ENSP00000374013:P206Q	P	-	2	0	PRB2	11437662	0.001000	0.12720	0.029000	0.17559	0.747000	0.42532	-0.415000	0.07106	-0.824000	0.04295	0.291000	0.19559	CCA	.	.	weak		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546395	G	T	11546395	3	4	14	1	0	0	0	0	1	0	0	0	12443	1348	47	4	637	4	PRB2	12	11546395	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4376059	11546395	122305500	184	3511										
OVCH1	341350	hgsc.bcm.edu	37	chr12	29617550	29617550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccgagttgtactccagaggaGagcttagttgtattagggca	13	7	0	2	rs11050243	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:29617550G>A	ENST00000318184.5	-	18	2014	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	672	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.		S -> F (in dbSNP:rs11050243).			extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S672F(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTCCAGAGGAGAGCTTAGTTG	0.493													G|||	912	0.182109	0.3585	0.1023	5008	,	,		18329	0.0853		0.1352	False		,,,				2504	0.1483				p.S672F		Atlas-SNP	.											OVCH1,NS,carcinoma,0,1	OVCH1	195	1	1	Substitution - Missense(1)	stomach(1)	c.C2015T						scavenged	.	G	PHE/SER	1315,2565		217,881,842	125	125	125		2015	2.7	0.6	12	dbSNP_120	125	1174,7148		90,994,3077	yes	missense	OVCH1	NM_183378.2	155	307,1875,3919	AA,AG,GG		14.1072,33.8918,20.3983	probably-damaging	672/1135	29617550	2489,9713	1940	4161	6101	SO:0001583	missense	341350	exon18			AGAGGAGAGCTTA	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2015C>T	12.37:g.29617550G>A	ENSP00000326708:p.Ser672Phe	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	171	2	0.0116959	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		355	0.16254578754578755	164	0.3333333333333333	29	0.08011049723756906	59	0.10314685314685315	103	0.1358839050131926	G	16.70	3.194855	0.58017	0.338918	0.141072	ENSG00000187950	ENST00000318184	T	0.61859	0.07	2.73	2.73	0.32206	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.00012	0.0000	M	0.71920	2.185	0.41092	P	0.014395999999999964	D	0.89917	1.0	D	0.81914	0.995	T	0.13818	-1.0495	8	0.45353	T	0.12	.	7.0766	0.25207	0.0:0.0:0.7311:0.2689	rs11050243;rs60892337;rs11050243	672	Q7RTY7	OVCH1_HUMAN	F	672	ENSP00000326708:S672F	ENSP00000326708:S672F	S	-	2	0	OVCH1	29508817	0.587000	0.26791	0.559000	0.28332	0.394000	0.30568	1.776000	0.38594	1.836000	0.53414	0.655000	0.94253	TCT	G|0.825;A|0.175	0.175	strong		0.493	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29617550	G	A	29617550	3	1	14	1	0	0	0	0	1	0	0	0	11323	942	33	2	1433	2	OVCH1	12	29617550	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	18071155	29617550	104234345	185	3512										
MLL2	8085	hgsc.bcm.edu	37	chr12	49421689	49421689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggccagtgtctgggctcttgCcttccagacccttttccttc	9	15	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:49421689C>A	ENST00000301067.7	-	47	14539	c.14540G>T	c.(14539-14541)gGc>gTc	p.G4847V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4847					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGCTCTTGCCTTCCAGACC	0.547																																					p.G4847V		Atlas-SNP	.											.	MLL2	1173	.	0			c.G14540T						PASS	.						60	62	61					12																	49421689		1987	4141	6128	SO:0001583	missense	8085	exon47			CTCTTGCCTTCCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14540G>T	12.37:g.49421689C>A	ENSP00000301067:p.Gly4847Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	182	65	0.357143	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292727	0.23564	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.01	2.11	0.27256	.	0.851336	0.09837	N	0.749407	T	0.66336	0.2779	L	0.38175	1.15	0.47621	D	0.999471	B	0.06786	0.001	B	0.06405	0.002	T	0.59300	-0.7480	10	0.87932	D	0	.	4.6868	0.12762	0.2706:0.5222:0.1314:0.0759	.	4847	O14686	MLL2_HUMAN	V	4847	ENSP00000301067:G4847V	ENSP00000301067:G4847V	G	-	2	0	MLL2	47707956	0.996000	0.38824	0.978000	0.43139	0.990000	0.78478	0.607000	0.24209	0.226000	0.20979	0.655000	0.94253	GGC	.	.	none		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49421689	C	A	49421689	3	1	14	1	0	0	0	0	1	0	0	0	9621	739	26	4	2105	4	MLL2	12	49421689	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	19804139	49421689	84430206	186	3513										
KRT6A	3853	hgsc.bcm.edu	37	chr12	52885485	52885485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgcagcagggtccactttgtTtccagaaccttgttctgctg	10	11	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:52885485T>G	ENST00000330722.6	-	2	644	c.576A>C	c.(574-576)gaA>gaC	p.E192D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	192	Coil 1A.|Rod.			E -> D (in Ref. 1; AAB60696). {ECO:0000305}.	cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACTTTGTTTCCAGAACCT	0.532																																					p.E192D		Atlas-SNP	.											KRT6A,NS,haematopoietic_neoplasm,0,1	KRT6A	89	1	0			c.A576C						scavenged	.						66	67	67					12																	52885485		2203	4300	6503	SO:0001583	missense	3853	exon2			CTTTGTTTCCAGA	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.576A>C	12.37:g.52885485T>G	ENSP00000369317:p.Glu192Asp	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	172	3	0.0174419	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	15.33	2.801841	0.50315	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.78595	-1.19	5.26	-1.41	0.08941	Filament (1);	0.298035	0.28414	N	0.015426	T	0.76772	0.4034	M	0.92555	3.32	0.31174	N	0.70282	B	0.24651	0.108	B	0.31016	0.123	T	0.68059	-0.5509	10	0.40728	T	0.16	.	2.0814	0.03635	0.1319:0.2762:0.2398:0.352	.	192	P02538	K2C6A_HUMAN	D	192;148	ENSP00000369317:E192D	ENSP00000369317:E192D	E	-	3	2	KRT6A	51171752	0.999000	0.42202	0.994000	0.49952	0.965000	0.64279	0.625000	0.24477	-0.197000	0.10350	-0.302000	0.09304	GAA	.	.	none		0.532	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		G	52885485	T	G	52885485	3	3	14	1	0	0	0	0	1	0	0	0	8480	1838	64	5	1150	5	KRT6A	12	52885485	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	3463796	52885485	80966410	187	3514										
KRT4	3851	hgsc.bcm.edu	37	chr12	53207583	53207583	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgaaggagcccccaaatccaCcaccaaagccaccagtgcca	7	17	0	1	rs76773498|rs11267392	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:53207583C>G	ENST00000551956.1	-	1	752	c.260G>C	c.(259-261)gGt>gCt	p.G87A	KRT4_ENST00000458244.2_Missense_Mutation_p.G67A|KRT4_ENST00000293774.4_Missense_Mutation_p.G161A			P19013	K2C4_HUMAN	keratin 4	87	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCAAATCCACCACCAAAGCC	0.602																																					p.G87A	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											KRT4,rectum,carcinoma,+1,2	KRT4	110	2	0			c.G260C						scavenged	.						43	59	54					12																	53207583		2120	4256	6376	SO:0001583	missense	3851	exon1			AATCCACCACCAA		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.260G>C	12.37:g.53207583C>G	ENSP00000448220:p.Gly87Ala	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	62	6	0.0967742	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614915	0.28712	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.98717	-3.14;0.68;-5.09	5.14	4.25	0.50352	.	0.974741	0.08394	N	0.952444	D	0.97123	0.9060	L	0.45581	1.43	0.29836	N	0.829633	B	0.21071	0.051	B	0.17979	0.02	D	0.93594	0.6924	10	0.31617	T	0.26	.	14.3364	0.66592	0.1484:0.8516:0.0:0.0	.	101	P19013	K2C4_HUMAN	A	87;161;67	ENSP00000448220:G87A;ENSP00000293774:G161A;ENSP00000387904:G67A	ENSP00000293774:G161A	G	-	2	0	KRT4	51493850	0.011000	0.17503	0.856000	0.33681	0.125000	0.20455	0.972000	0.29409	1.483000	0.48342	0.585000	0.79938	GGT	.	.	weak		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		G	53207583	C	G	53207583	3	3	14	1	0	0	0	0	1	0	0	0	8477	507	18	4	1338	4	KRT4	12	53207583	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	322098	53207583	80644312	188	3515										
TIMELESS	8914	hgsc.bcm.edu	37	chr12	56827699	56827699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctcaaatagcggatcagatCcttcacgctctcttcagaga	7	13	5	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:56827699C>T	ENST00000553532.1	-	3	259	c.109G>A	c.(109-111)Gat>Aat	p.D37N	TIMELESS_ENST00000554616.1_Missense_Mutation_p.D37N|TIMELESS_ENST00000229201.4_Missense_Mutation_p.D37N					timeless circadian clock									p.D37Y(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGGATCAGATCCTTCACGCTC	0.522																																					p.D37N		Atlas-SNP	.											TIMELESS,right_upper_lobe,carcinoma,0,2	TIMELESS	107	2	1	Substitution - Missense(1)	lung(1)	c.G109A						scavenged	.						107	106	107					12																	56827699		2203	4300	6503	SO:0001583	missense	8914	exon3			TCAGATCCTTCAC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.109G>A	12.37:g.56827699C>T	ENSP00000450607:p.Asp37Asn	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_003920		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072642	0.93950	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.53857	0.6;0.6;0.6	5.44	5.44	0.79542	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80551	-0.1332	10	0.66056	D	0.02	-19.4834	18.4236	0.90600	0.0:1.0:0.0:0.0	.	37;37	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	N	37	ENSP00000229201:D37N;ENSP00000450607:D37N;ENSP00000450848:D37N	ENSP00000229201:D37N	D	-	1	0	TIMELESS	55113966	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.598000	0.82745	2.735000	0.93741	0.555000	0.69702	GAT	.	.	none		0.522	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56827699	C	T	56827699	3	4	14	1	0	0	0	0	1	0	0	0	15901	855	30	2	3625	2	TIMELESS	12	56827699	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3620116	56827699	77024196	189	3516										
CUX2	23316	hgsc.bcm.edu	37	chr12	111779831	111779831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctcaacctcaagaccaacacCgtcatcaactggttccacaa	4	16	4	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:111779831C>T	ENST00000261726.6	+	21	3787	c.3633C>T	c.(3631-3633)acC>acT	p.T1211T	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1211					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGACCAACACCGTCATCAACT	0.612																																					p.T1211T		Atlas-SNP	.											CUX2,caecum,carcinoma,0,1	CUX2	145	1	0			c.C3633T						scavenged	.						66	76	73					12																	111779831		2195	4300	6495	SO:0001819	synonymous_variant	23316	exon21			CAACACCGTCATC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3633C>T	12.37:g.111779831C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_015267	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																			.	.	none		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111779831	C	T	111779831	2	4	14	1	0	0	0	0	0	0	0	1	4065	639	23	1		1	CUX2	12	111779831	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	54952132	111779831	22072064	190	3517										
CLIP1	6249	hgsc.bcm.edu	37	chr12	122862149	122862149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctggccgtagaagtgcacagCggtgaagtagctcgggaggc	17	9	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:122862149C>T	ENST00000540338.1	-	2	485	c.444G>A	c.(442-444)ccG>ccA	p.P148P	CLIP1_ENST00000358808.2_Silent_p.P148P|CLIP1_ENST00000361654.4_Silent_p.P148P|CLIP1_ENST00000537178.1_Silent_p.P148P|CLIP1_ENST00000302528.7_Silent_p.P148P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	148	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P148P(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGTGCACAGCGGTGAAGTAG	0.537																																					p.P148P		Atlas-SNP	.											CLIP1,colon,carcinoma,0,1	CLIP1	126	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A						scavenged	.						162	143	149					12																	122862149		2203	4300	6503	SO:0001819	synonymous_variant	6249	exon3			GCACAGCGGTGAA		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.444G>A	12.37:g.122862149C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	118	2	0.0169492	NM_002956	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																			.	.	none		0.537	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		T	122862149	C	T	122862149	2	4	14	1	0	0	0	0	0	0	0	1	3532	755	27	1		1	CLIP1	12	122862149	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	11082318	122862149	10989746	191	3518										
ZCCHC8	55596	hgsc.bcm.edu	37	chr12	122975093	122975093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	actaaatttgatacaaattcCtctatttcttgatgatattg	4	6	2	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:122975093C>T	ENST00000336229.4	-	4	469	c.339G>A	c.(337-339)gaG>gaA	p.E113E	SNORA9_ENST00000516383.1_RNA|ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	113					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATACAAATTCCTCTATTTCTT	0.333																																					p.E113E		Atlas-SNP	.											.	ZCCHC8	56	.	0			c.G339A						PASS	.						52	50	50					12																	122975093		1810	4068	5878	SO:0001819	synonymous_variant	55596	exon4			AAATTCCTCTATT	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.339G>A	12.37:g.122975093C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37																																																																																				.	.	none		0.333	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		T	122975093	C	T	122975093	2	4	14	1	0	0	0	0	0	0	0	1	17591	680	24	2		2	ZCCHC8	12	122975093	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	112944	122975093	10876802	192	3519										
GPR109A	338442	hgsc.bcm.edu	37	chr12	123187023	123187023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaacgccaggtccaccgagcGgtacacttcacaattctgcg	10	14	2	0	rs201423596		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:123187023G>A	ENST00000328880.5	-	1	867	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	270					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TCCACCGAGCGGTACACTTCA	0.552																																					p.R270C		Atlas-SNP	.											.	HCAR2	36	.	0			c.C808T						PASS	.						50	46	47					12																	123187023		2203	4294	6497	SO:0001583	missense	338442	exon1			CCGAGCGGTACAC	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.808C>T	12.37:g.123187023G>A	ENSP00000375066:p.Arg270Cys	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	285	67	0.235088	NM_177551	A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292018	0.23564	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37584	1.19	4.83	-1.66	0.08265	GPCR, rhodopsin-like superfamily (1);	0.524402	0.18457	N	0.140657	T	0.41465	0.1160	M	0.62088	1.915	0.09310	N	1	D	0.54207	0.965	P	0.56788	0.806	T	0.26538	-1.0100	10	0.62326	D	0.03	-6.7453	3.923	0.09251	0.3275:0.0:0.4073:0.2652	.	270	Q8TDS4	HCAR2_HUMAN	C	270	ENSP00000375066:R270C	ENSP00000375066:R270C	R	-	1	0	HCAR2	121752976	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.110000	0.10824	-0.192000	0.10432	0.563000	0.77884	CGC	.	.	weak		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		A	123187023	G	A	123187023	3	1	14	1	0	0	0	0	1	0	0	0	6625	1116	39	1	287	1	GPR109A	12	123187023	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	211930	123187023	10664872	193	3520										
GPR109B	8843	hgsc.bcm.edu	37	chr12	123200477	123200477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaacgccaggtccaccgagcGgtacacttcacaattctgcg	10	14	2	0	rs562598836		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:123200477G>A	ENST00000528880.2	-	1	962	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	270					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TCCACCGAGCGGTACACTTCA	0.547													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17943	0.0		0.0	False		,,,				2504	0.0				p.R270C		Atlas-SNP	.											.	HCAR3	49	.	0			c.C808T						PASS	.						14	17	16					12																	123200477		2072	4240	6312	SO:0001583	missense	8843	exon1			CCGAGCGGTACAC	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.808C>T	12.37:g.123200477G>A	ENSP00000436714:p.Arg270Cys	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	148	20	0.135135	NM_006018	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	12.25	1.881324	0.33255	.	.	ENSG00000255398	ENST00000528880	T	0.37584	1.19	3.26	2.01	0.26516	.	.	.	.	.	T	0.47097	0.1427	L	0.60067	1.865	0.09310	N	1	D	0.57899	0.981	P	0.59595	0.86	T	0.27938	-1.0059	9	0.66056	D	0.02	.	6.4754	0.22033	0.2217:0.0:0.7783:0.0	.	270	E9PI97	.	C	270	ENSP00000436714:R270C	ENSP00000436714:R270C	R	-	1	0	HCAR3	121766430	0.000000	0.05858	0.023000	0.16930	0.275000	0.26752	-0.123000	0.10611	0.206000	0.20587	0.184000	0.17185	CGC	.	.	weak		0.547	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		A	123200477	G	A	123200477	3	1	14	1	0	0	0	0	1	0	0	0	6626	1116	39	1	359	1	GPR109B	12	123200477	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	13454	123200477	10651418	194	3521										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124281312	124281312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggaacgatctctgttctttcGgattaagcataccatcctcc	7	12	2	0	rs143386728	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:124281312G>T	ENST00000409039.3	+	12	1767	c.1742G>T	c.(1741-1743)cGg>cTg	p.R581L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	581	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTTCTTTCGGATTAAGCAT	0.423																																					p.R581L		Atlas-SNP	.											DNAH10_ENST00000409039,colon,carcinoma,0,4	DNAH10	888	4	0			c.G1742T						scavenged	.						145	128	134					12																	124281312		2203	4300	6503	SO:0001583	missense	196385	exon12			TCTTTCGGATTAA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1742G>T	12.37:g.124281312G>T	ENSP00000386770:p.Arg581Leu	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	161	3	0.0186335	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149776	0.57151	.	.	ENSG00000197653	ENST00000409039	T	0.66099	-0.19	5.35	5.35	0.76521	Dynein heavy chain, domain-1 (1);	0.108055	0.36555	N	0.002521	D	0.83580	0.5285	M	0.89601	3.045	0.41076	D	0.98548	D;D;D	0.71674	0.974;0.995;0.998	P;D;D	0.76071	0.906;0.987;0.968	D	0.87237	0.2264	10	0.87932	D	0	.	19.0759	0.93161	0.0:0.0:1.0:0.0	.	581;456;581	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	L	581	ENSP00000386770:R581L	ENSP00000386770:R581L	R	+	2	0	DNAH10	122847265	1.000000	0.71417	0.644000	0.29465	0.101000	0.19017	7.701000	0.84566	2.506000	0.84524	0.650000	0.86243	CGG	G|1.000;A|0.000	.	alt		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124281312	G	T	124281312	3	4	14	1	0	0	0	0	1	0	0	0	4598	1116	39	4	1788	4	DNAH10	12	124281312	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1080835	124281312	9570583	195	3522										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124399057	124399057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccccctgagccagcctttcCggctggaaagcctgctcacg	10	17	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:124399057C>T	ENST00000409039.3	+	60	10205	c.10180C>T	c.(10180-10182)Cgg>Tgg	p.R3394W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3394					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGCCTTTCCGGCTGGAAAG	0.592																																					p.R3394W		Atlas-SNP	.											DNAH10_same_name,colon,carcinoma,0,2	DNAH10	888	2	0			c.C10180T						scavenged	.						42	45	44					12																	124399057		1954	4164	6118	SO:0001583	missense	196385	exon60			CCTTTCCGGCTGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10180C>T	12.37:g.124399057C>T	ENSP00000386770:p.Arg3394Trp	Somatic	52	1	0.0192308		WXS	Illumina HiSeq	Phase_I	60	2	0.0333333	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199144	0.58126	.	.	ENSG00000197653	ENST00000409039	T	0.22743	1.94	5.28	2.07	0.26955	.	0.207319	0.37483	N	0.002062	T	0.40645	0.1125	M	0.84326	2.69	0.21290	N	0.999737	D	0.71674	0.998	P	0.55260	0.772	T	0.40794	-0.9544	10	0.72032	D	0.01	.	13.635	0.62217	0.5743:0.4257:0.0:0.0	.	3394	Q8IVF4	DYH10_HUMAN	W	3394	ENSP00000386770:R3394W	ENSP00000386770:R3394W	R	+	1	2	DNAH10	122965010	0.120000	0.22244	0.067000	0.19924	0.571000	0.35966	0.748000	0.26305	0.525000	0.28522	0.561000	0.74099	CGG	.	.	none		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124399057	C	T	124399057	3	4	14	1	0	0	0	0	1	0	0	0	4598	643	23	1	10418	1	DNAH10	12	124399057	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	117745	124399057	9452838	196	3523										
PIWIL1	9271	hgsc.bcm.edu	37	chr12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acatgcccagccggatcatcGtgtaccgcgatggcgtagga	13	12	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)		CCGGATCATCGTGTACCGCGA	0.488																																					p.V699M		Atlas-SNP	.											.	PIWIL1	157	.	0			c.G2095A						PASS	.						114	112	113					12																	130847589		2203	4300	6503	SO:0001583	missense	9271	exon18			ATCATCGTGTACC	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.2095G>A	12.37:g.130847589G>A	ENSP00000245255:p.Val699Met	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	130	43	0.330769	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700418	0.68501	.	.	ENSG00000125207	ENST00000245255	T	0.16597	2.33	5.66	5.66	0.87406	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.056584	0.64402	D	0.000001	T	0.37785	0.1016	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	P;P	0.59546	0.859;0.815	T	0.14699	-1.0463	10	0.66056	D	0.02	-15.817	12.0926	0.53736	0.0782:0.0:0.9218:0.0	.	699;699	Q96J94;Q96J94-2	PIWL1_HUMAN;.	M	699	ENSP00000245255:V699M	ENSP00000245255:V699M	V	+	1	0	PIWIL1	129413542	1.000000	0.71417	0.960000	0.40013	0.456000	0.32438	5.444000	0.66587	2.663000	0.90544	0.591000	0.81541	GTG	.	.	none		0.488	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130847589	G	A	130847589	3	1	14	1	0	0	0	0	1	0	0	0	11957	1145	40	1	2161	1	PIWIL1	12	130847589	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6448532	130847589	3004306	197	3524										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751463	19751463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aggttggtgtacgtgggacgCtcgatgtccaggttgcgccg	17	9	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:19751463C>T	ENST00000400113.3	-	4	764	c.660G>A	c.(658-660)gaG>gaA	p.E220E		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	220					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACGTGGGACGCTCGATGTCCA	0.567																																					p.E220E		Atlas-SNP	.											TUBA3C,NS,carcinoma,-2,1	TUBA3C	166	1	0			c.G660A						scavenged	.						229	192	205					13																	19751463		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GGGACGCTCGATG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.660G>A	13.37:g.19751463C>T		Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	309	4	0.012945	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			.	.	none		0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751463	C	T	19751463	2	4	14	1	0	0	0	0	0	0	0	1	16743	796	28	2		2	TUBA3C	13	19751463	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10		19751463	95418415	198	3525										
DGKH	160851	hgsc.bcm.edu	37	chr13	42772647	42772647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	actggctgcctcaattgctgGgagttcgattatcaacaaaa	9	9	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:42772647G>T	ENST00000337343.4	+	18	2222	c.2201G>T	c.(2200-2202)gGg>gTg	p.G734V	DGKH_ENST00000536612.1_Missense_Mutation_p.G598V|DGKH_ENST00000379274.2_Missense_Mutation_p.G598V|DGKH_ENST00000540693.1_Missense_Mutation_p.G734V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.G489V|DGKH_ENST00000261491.5_Missense_Mutation_p.G734V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	734					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G734A(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCAATTGCTGGGAGTTCGATT	0.418																																					p.G734V		Atlas-SNP	.											DGKH,colon,carcinoma,+1,2	DGKH	106	2	1	Substitution - Missense(1)	ovary(1)	c.G2201T						scavenged	.						136	127	130					13																	42772647		2203	4300	6503	SO:0001583	missense	160851	exon19			TTGCTGGGAGTTC	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2201G>T	13.37:g.42772647G>T	ENSP00000337572:p.Gly734Val	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	169	2	0.0118343	NM_001204504	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155511	0.78114	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;D;D;D;D;T	0.83075	-1.67;-1.54;-1.67;-1.68;-1.68;1.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	M	0.71581	2.175	0.80722	D	1	D;D;D;B	0.89917	0.998;0.99;1.0;0.435	D;P;D;B	0.91635	0.966;0.905;0.999;0.097	D	0.90533	0.4497	10	0.54805	T	0.06	.	19.8372	0.96661	0.0:0.0:1.0:0.0	.	489;598;734;734	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	734;734;734;598;598;489	ENSP00000440823:G734V;ENSP00000337572:G734V;ENSP00000261491:G734V;ENSP00000368576:G598V;ENSP00000445114:G598V;ENSP00000441308:G489V	ENSP00000261491:G734V	G	+	2	0	DGKH	41670647	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.825000	0.92029	2.770000	0.95276	0.655000	0.94253	GGG	.	.	none		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		T	42772647	G	T	42772647	3	4	14	1	0	0	0	0	1	0	0	0	4470	1232	43	4	2271	4	DGKH	13	42772647	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	23021184	42772647	72397231	199	3526										
DOCK9	23348	hgsc.bcm.edu	37	chr13	99537314	99537314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctcgcttgtcaccacccttcCgtctttcaggaggggaagcc	10	15	3	0	rs370847473		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:99537314C>T	ENST00000376460.1	-	21	2373	c.2293G>A	c.(2293-2295)Gga>Aga	p.G765R	DOCK9_ENST00000448493.2_Missense_Mutation_p.G777R|DOCK9_ENST00000442173.1_Missense_Mutation_p.G765R|DOCK9_ENST00000339416.2_Missense_Mutation_p.G766R	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	766	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCACCCTTCCGTCTTTCAGG	0.512																																					p.G766R		Atlas-SNP	.											DOCK9_ENST00000448493,left_upper_lobe,carcinoma,+1,3	DOCK9	311	3	0			c.G2296A						scavenged	.	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3882		0,0,1941	50	50	50		2293,2296,2293,2296	6	1	13		50	1,8283		0,1,4141	no	missense,missense,missense,missense	DOCK9	NM_001130048.1,NM_001130049.1,NM_001130050.1,NM_015296.2	125,125,125,125	0,1,6082	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	765/2069,766/1255,765/1254,766/2070	99537314	1,12165	1941	4142	6083	SO:0001583	missense	23348	exon21			CCCTTCCGTCTTT	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2293G>A	13.37:g.99537314C>T	ENSP00000365643:p.Gly765Arg	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	60	3	0.05	NM_001130049	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398347	0.96030	0.0	1.21E-4	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	M	0.81239	2.535	0.80722	D	1	D;D;D;P;D	0.89917	0.995;1.0;0.995;0.921;1.0	P;D;P;P;D	0.97110	0.88;1.0;0.819;0.479;1.0	T	0.57528	-0.7796	10	0.62326	D	0.03	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	766;765;765;765;766	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	R	765;766;766;766;765;766;777;765	ENSP00000365643:G765R;ENSP00000341086:G766R;ENSP00000401958:G777R;ENSP00000406883:G765R	ENSP00000341086:G766R	G	-	1	0	DOCK9	98335315	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.281000	0.78621	2.832000	0.97577	0.655000	0.94253	GGA	.	.	weak		0.512	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		T	99537314	C	T	99537314	3	4	14	1	0	0	0	0	1	0	0	0	4694	661	23	1	4118	1	DOCK9	13	99537314	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	56764667	99537314	15632564	200	3527										
TM9SF2	9375	hgsc.bcm.edu	37	chr13	100204538	100204538	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctttggttctgcatatctgtGcctctgacgtttattggtgc	10	9	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:100204538G>C	ENST00000376387.4	+	13	1636	c.1446G>C	c.(1444-1446)gtG>gtC	p.V482V		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	482					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCATATCTGTGCCTCTGACGT	0.388																																					p.V482V		Atlas-SNP	.											.	TM9SF2	52	.	0			c.G1446C						PASS	.						213	195	201					13																	100204538		2203	4300	6503	SO:0001819	synonymous_variant	9375	exon13			ATCTGTGCCTCTG	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1446G>C	13.37:g.100204538G>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	234	25	0.106838	NM_004800	A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	CCDS9493.1																																																																																			.	.	none		0.388	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			C	100204538	G	C	100204538	2	2	14	1	0	0	0	0	0	0	0	1	15975	1306	46	4		4	TM9SF2	13	100204538	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	667224	100204538	14965340	201	3528										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113512594	113512594	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctctgagctcgtgcagtactTcttctataaggtaggagggt	12	8	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:113512594T>A	ENST00000487903.1	+	22	2745	c.2657T>A	c.(2656-2658)tTc>tAc	p.F886Y	ATP11A_ENST00000283558.8_Missense_Mutation_p.F886Y|ATP11A_ENST00000375645.3_Missense_Mutation_p.F886Y|ATP11A_ENST00000375630.2_Missense_Mutation_p.F886Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	886					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTGCAGTACTTCTTCTATAAG	0.498																																					p.F886Y		Atlas-SNP	.											ATP11A_ENST00000375630,NS,carcinoma,-1,4	ATP11A	225	4	0			c.T2657A						scavenged	.						75	75	75					13																	113512594		2203	4300	6503	SO:0001583	missense	23250	exon22			AGTACTTCTTCTA	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2657T>A	13.37:g.113512594T>A	ENSP00000420387:p.Phe886Tyr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	96	2	0.0208333	NM_032189	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	4.007441|4.007441	0.75046|0.75046	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166|ENST00000418678	T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80788|0.80788	0.4690|0.4690	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	D;P;B|.	0.65815|.	0.995;0.756;0.162|.	P;B;B|.	0.62435|.	0.902;0.391;0.285|.	D|D	0.84135|0.84135	0.0414|0.0414	10|5	0.39692|.	T|.	0.17|.	.|.	15.827|15.827	0.78718|0.78718	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	886;886;886|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	Y|T	886;886;886;886;327|861	ENSP00000420387:F886Y;ENSP00000364781:F886Y;ENSP00000364796:F886Y;ENSP00000283558:F886Y|.	ENSP00000283558:F886Y|.	F|S	+|+	2|1	0|0	ATP11A|ATP11A	112560595|112560595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.778000|0.778000	0.44026|0.44026	7.223000|7.223000	0.78033|0.78033	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	TTC|TCT	.	.	none		0.498	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113512594	T	A	113512594	3	1	14	1	0	0	0	0	1	0	0	0	1119	1783	62	5	2743	5	ATP11A	13	113512594	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	13308056	113512594	1657284	202	3529										
UPF3A	65110	hgsc.bcm.edu	37	chr13	115057219	115057219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaagaaagatgcaaaaaaaaAgagacagataaacagaagaa	9	3	0	6			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr13:115057219A>G	ENST00000375299.3	+	7	854	c.798A>G	c.(796-798)aaA>aaG	p.K266K	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.K233K	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		gcaaaaaaaaagagacagata	0.353																																					p.K266K		Atlas-SNP	.											.	UPF3A	47	.	0			c.A798G						PASS	.						39	40	40					13																	115057219		2201	4289	6490	SO:0001819	synonymous_variant	65110	exon7			AAAAAAAGAGACA	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.798A>G	13.37:g.115057219A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	103	5	0.0485437	NM_023011	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.	.	none		0.353	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			G	115057219	A	G	115057219	2	3	14	1	0	0	0	0	0	0	0	1	17002	69	3	3		3	UPF3A	13	115057219	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	1544625	115057219	112659	203	3530										
FANCM	57697	hgsc.bcm.edu	37	chr14	45624650	45624650	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aagttgtaattgaacacttcAagtcatggaatggtaggtca	10	5	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:45624650A>T	ENST00000267430.5	+	8	1469	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.K436*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.K462*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	462	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGAACACTTCAAGTCATGGAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.K462X		Atlas-SNP	.											.	FANCM	225	.	0			c.A1384T						PASS	.						69	73	72					14																	45624650		2202	4300	6502	SO:0001587	stop_gained	57697	exon8	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CACTTCAAGTCAT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1384A>T	14.37:g.45624650A>T	ENSP00000267430:p.Lys462*	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	128	40	0.3125	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	38	6.864036	0.97893	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.42	5.42	0.78866	.	0.409870	0.28834	N	0.013998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7616	0.51908	0.853:0.147:0.0:0.0	.	.	.	.	X	462;462;436;47	.	ENSP00000267430:K462X	K	+	1	0	FANCM	44694400	0.968000	0.33430	0.984000	0.44739	0.854000	0.48673	2.342000	0.43992	2.040000	0.60383	0.460000	0.39030	AAG	.	.	none		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45624650	A	T	45624650	4	4	14	1	0	0	0	0	0	1	0	0	5671	131	5	5	1414	5	FANCM	14	45624650	Nonsense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10		45624650	61724890	204	3531										
SLC35F4	341880	hgsc.bcm.edu	37	chr14	58060834	58060834	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acatctagtgactgatgatcTggaggtacctggaaagacag	12	7	2	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:58060834T>A	ENST00000339762.6	-	2	219	c.220A>T	c.(220-222)Aga>Tga	p.R74*	SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000556826.1_Nonsense_Mutation_p.R38*|SLC35F4_ENST00000554729.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	74					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGATGATCTGGAGGTACCT	0.438																																					p.R38X		Atlas-SNP	.											SLC35F4_ENST00000339762,NS,carcinoma,0,2	SLC35F4	105	2	0			c.A112T						scavenged	.						64	64	64					14																	58060834		1919	4122	6041	SO:0001587	stop_gained	341880	exon2			ATGATCTGGAGGT			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.220A>T	14.37:g.58060834T>A	ENSP00000342518:p.Arg74*	Somatic	81	1	0.0123457		WXS	Illumina HiSeq	Phase_I	74	2	0.027027	NM_001206920	A6NDQ3	Nonsense_Mutation	SNP	ENST00000339762.6	37		.	.	.	.	.	.	.	.	.	.	T	25.5	4.647311	0.87958	.	.	ENSG00000151812	ENST00000556826;ENST00000339762	.	.	.	5.83	3.3	0.37823	.	0.057562	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7166	11.4724	0.50278	0.0:0.0:0.4577:0.5423	.	.	.	.	X	38;74	.	ENSP00000342518:R74X	R	-	1	2	SLC35F4	57130587	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.437000	0.44828	1.006000	0.39211	0.477000	0.44152	AGA	.	.	none		0.438	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		A	58060834	T	A	58060834	4	1	14	1	0	0	0	0	0	1	0	0	14591	1588	55	5	1373	5	SLC35F4	14	58060834	Nonsense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	12436184	58060834	49288706	205	3532										
GALNTL1	57452	hgsc.bcm.edu	37	chr14	69727023	69727023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccaccatgaggaagatccgcGccaatgccatcgccatcctg	9	16	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:69727023G>A	ENST00000337827.4	+	1	343	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	GALNT16_ENST00000448469.3_Missense_Mutation_p.A6T|RP11-363J20.2_ENST00000556316.1_lincRNA|GALNT16_ENST00000553669.1_Missense_Mutation_p.A6T|GALNT16_ENST00000554858.1_3'UTR	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	6					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GAAGATCCGCGCCAATGCCAT	0.697																																					p.A6T		Atlas-SNP	.											.	GALNT16	8	.	0			c.G16A						PASS	.						84	65	72					14																	69727023		2202	4300	6502	SO:0001583	missense	57452	exon1			ATCCGCGCCAATG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.16G>A	14.37:g.69727023G>A	ENSP00000336729:p.Ala6Thr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	72	4	0.0555556	NM_001168368	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722824	0.89298	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.56941	0.56;0.56;0.43	4.35	2.45	0.29901	.	0.240329	0.32736	N	0.005718	T	0.37919	0.1021	L	0.43152	1.355	0.51012	D	0.999904	B;B	0.18166	0.014;0.026	B;B	0.06405	0.002;0.002	T	0.10870	-1.0611	10	0.13470	T	0.59	.	8.5824	0.33637	0.0828:0.0:0.7656:0.1517	.	6;6	Q8N428;Q58A55	GLTL1_HUMAN;.	T	6	ENSP00000336729:A6T;ENSP00000402970:A6T;ENSP00000451200:A6T	ENSP00000336729:A6T	A	+	1	0	GALNTL1	68796776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.332000	0.65911	0.360000	0.24265	0.455000	0.32223	GCC	.	.	none		0.697	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		A	69727023	G	A	69727023	3	1	14	1	0	0	0	0	1	0	0	0	6221	1087	38	1	18	1	GALNTL1	14	69727023	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	11666189	69727023	37622517	206	3533										
EML5	161436	hgsc.bcm.edu	37	chr14	89206866	89206866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtctgaaggtcacccgtcttAccaaagacacctcgttttgg	9	12	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:89206866A>G	ENST00000380664.5	-	5	575	c.576T>C	c.(574-576)ggT>ggC	p.G192G	EML5_ENST00000352093.5_Silent_p.G192G|EML5_ENST00000554922.1_Silent_p.G192G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	192						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACCCGTCTTACCAAAGACAC	0.373																																					p.G192G		Atlas-SNP	.											EML5,NS,carcinoma,-2,1	EML5	141	1	0			c.T576C						scavenged	.						153	143	146					14																	89206866		1872	4115	5987	SO:0001819	synonymous_variant	161436	exon5			CGTCTTACCAAAG	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.576T>C	14.37:g.89206866A>G		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	189	4	0.021164	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																			.	.	none		0.373	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			G	89206866	A	G	89206866	2	3	14	1	0	0	0	0	0	0	0	1	5100	378	14	2		2	EML5	14	89206866	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	19479843	89206866	18142674	207	3534										
TRIP11	9321	hgsc.bcm.edu	37	chr14	92472695	92472695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	catcttcaagttgatgaactCtctttttttcatcatttaga	4	8	5	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:92472695C>T	ENST00000267622.4	-	11	1998	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	542					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGATGAACTCTCTTTTTTTC	0.308			T	PDGFRB	AML																																p.R542K	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	TRIP11,NS,carcinoma,0,1	TRIP11	184	1	0			c.G1625A						scavenged	.						76	72	74					14																	92472695		2202	4292	6494	SO:0001583	missense	9321	exon11			TGAACTCTCTTTT	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1625G>A	14.37:g.92472695C>T	ENSP00000267622:p.Arg542Lys	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	8.710	0.911804	0.17907	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03951	3.75	6.16	4.34	0.51931	.	0.207171	0.49916	N	0.000125	T	0.03178	0.0093	N	0.25485	0.75	0.26130	N	0.980432	B;B	0.15141	0.004;0.012	B;B	0.17979	0.009;0.02	T	0.44513	-0.9323	10	0.06757	T	0.87	.	7.7245	0.28753	0.0:0.6731:0.0:0.3269	.	278;542	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	542;278	ENSP00000267622:R542K	ENSP00000267622:R542K	R	-	2	0	TRIP11	91542448	1.000000	0.71417	0.830000	0.32933	0.266000	0.26442	1.975000	0.40569	1.626000	0.50381	0.650000	0.86243	AGA	.	.	none		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92472695	C	T	92472695	3	4	14	1	0	0	0	0	1	0	0	0	16552	913	32	2	4358	2	TRIP11	14	92472695	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3265829	92472695	14876845	208	3535										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102476412	102476412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgcttgccaacaaaatcgtCccgttttttaagtaagtagc	8	9	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr14:102476412C>T	ENST00000360184.4	+	30	6374	c.6210C>T	c.(6208-6210)gtC>gtT	p.V2070V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2070	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAAAATCGTCCCGTTTTTTA	0.418																																					p.V2070V		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.C6210T						PASS	.						61	65	64					14																	102476412		2203	4299	6502	SO:0001819	synonymous_variant	1778	exon30			AATCGTCCCGTTT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6210C>T	14.37:g.102476412C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	53	4	0.0754717	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			.	.	none		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102476412	C	T	102476412	2	4	14	1	0	0	0	0	0	0	0	1	4841	842	30	2		2	DYNC1H1	14	102476412	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	10003717	102476412	4873128	209	3536										
MAGEL2	54551	hgsc.bcm.edu	37	chr15	23890645	23890645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggtggcagcaaagatcatgcGgtcttttgaaggggccctgc	15	9	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:23890645G>A	ENST00000532292.1	-	1	530	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	29					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAGATCATGCGGTCTTTTGAA	0.602																																					p.R749C		Atlas-SNP	.											MAGEL2_ENST00000532292,colon,carcinoma,0,2	MAGEL2	108	2	0			c.C2245T						PASS	.						33	37	35					15																	23890645		1971	4150	6121	SO:0001583	missense	54551	exon1			TCATGCGGTCTTT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.436C>T	15.37:g.23890645G>A	ENSP00000433433:p.Arg146Cys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	88	34	0.386364	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37																																																																																				.	.	none		0.602	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		A	23890645	G	A	23890645	3	1	14	1	0	0	0	0	1	0	0	0	9189	1116	39	1	1508	1	MAGEL2	15	23890645	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		23890645	78640747	210	3537										
MTMR10	54893	hgsc.bcm.edu	37	chr15	31266590	31266590	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatctttacaataaataattAactctgttggattaaatttc	3	5	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:31266590A>C	ENST00000435680.1	-	5	498	c.401T>G	c.(400-402)tTa>tGa	p.L134*	MTMR10_ENST00000425768.1_Nonsense_Mutation_p.L134*|MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Nonsense_Mutation_p.L52*	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	134							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ATAAATAATTAACTCTGTTGG	0.323																																					p.L134X		Atlas-SNP	.											.	MTMR10	74	.	0			c.T401G						PASS	.						52	52	52					15																	31266590		1797	4057	5854	SO:0001587	stop_gained	54893	exon5			ATAATTAACTCTG	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.401T>G	15.37:g.31266590A>C	ENSP00000402537:p.Leu134*	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	127	70	0.551181	NM_017762	Q6P4Q6	Nonsense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	37	6.370397	0.97511	.	.	ENSG00000166912	ENST00000435680;ENST00000425768;ENST00000340566	.	.	.	5.49	3.15	0.36227	.	0.065888	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7074	0.28659	0.8072:0.0:0.068:0.1248	.	.	.	.	X	134;134;52	.	ENSP00000340637:L52X	L	-	2	0	MTMR10	29053882	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.910000	0.92685	0.446000	0.26666	0.533000	0.62120	TTA	.	.	none		0.323	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		C	31266590	A	C	31266590	4	2	14	1	0	0	0	0	0	1	0	0	9939	372	13	5	1980	5	MTMR10	15	31266590	Nonsense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	7375945	31266590	71264802	211	3538										
SPRED1	161742	hgsc.bcm.edu	37	chr15	38643716	38643716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atccctgttcgtgtgacactAgcgacgacaagttctgcttg	10	11	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:38643716A>G	ENST00000299084.4	+	7	2046	c.1186A>G	c.(1186-1188)Agc>Ggc	p.S396G		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	396	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGTGACACTAGCGACGACAA	0.458									Legius syndrome																												p.S396G	Melanoma(196;2146 2959 7698 16532)	Atlas-SNP	.											SPRED1,NS,carcinoma,-2,1	SPRED1	51	1	0			c.A1186G						scavenged	.						255	221	232					15																	38643716		2200	4297	6497	SO:0001583	missense	161742	exon7	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	GACACTAGCGACG	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.1186A>G	15.37:g.38643716A>G	ENSP00000299084:p.Ser396Gly	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	205	3	0.0146341	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	9.435	1.086442	0.20390	.	.	ENSG00000166068	ENST00000299084	D	0.85702	-2.02	5.81	4.69	0.59074	.	0.211473	0.56097	D	0.000023	T	0.73799	0.3633	L	0.28740	0.885	0.53005	D	0.999961	B	0.14805	0.011	B	0.19946	0.027	T	0.66304	-0.5957	10	0.22109	T	0.4	-22.9336	6.6434	0.22921	0.7913:0.0:0.0715:0.1372	.	396	Q7Z699	SPRE1_HUMAN	G	396	ENSP00000299084:S396G	ENSP00000299084:S396G	S	+	1	0	SPRED1	36431008	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.097000	0.57741	2.252000	0.74401	0.457000	0.33378	AGC	.	.	none		0.458	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38643716	A	G	38643716	3	3	14	1	0	0	0	0	1	0	0	0	15091	420	15	3	1212	3	SPRED1	15	38643716	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	7377126	38643716	63887676	212	3539										
FBN1	2200	hgsc.bcm.edu	37	chr15	48779516	48779516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctttctccttaccgatacaCgcggagatgttgggggacag	12	10	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:48779516C>T	ENST00000316623.5	-	28	3911	c.3456G>A	c.(3454-3456)gcG>gcA	p.A1152A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1152	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TACCGATACACGCGGAGATGT	0.488																																					p.A1152A		Atlas-SNP	.											FBN1,colon,carcinoma,-1,1	FBN1	310	1	0			c.G3456A						scavenged	.						98	98	98					15																	48779516		2198	4296	6494	SO:0001819	synonymous_variant	2200	exon28			GATACACGCGGAG	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3456G>A	15.37:g.48779516C>T		Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	71	38	0.535211	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																			.	.	none		0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48779516	C	T	48779516	2	4	14	1	0	0	0	0	0	0	0	1	5702	523	19	1		1	FBN1	15	48779516	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	10135800	48779516	53751876	213	3540										
PLEKHO2	80301	hgsc.bcm.edu	37	chr15	65157677	65157677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acagtcctgagcctgccaagCcctctcaggctgagggcacc	11	16	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:65157677C>G	ENST00000323544.4	+	6	1191	c.1063C>G	c.(1063-1065)Ccc>Gcc	p.P355A	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	355	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCTGCCAAGCCCTCTCAGGC	0.612																																					p.P355A		Atlas-SNP	.											.	PLEKHO2	50	.	0			c.C1063G						PASS	.						70	70	70					15																	65157677		2202	4299	6501	SO:0001583	missense	80301	exon6			GCCAAGCCCTCTC	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1063C>G	15.37:g.65157677C>G	ENSP00000326706:p.Pro355Ala	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	29	14	0.482759	NM_025201	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.120411	0.00346	.	.	ENSG00000241839	ENST00000323544	T	0.34275	1.37	5.05	2.03	0.26663	.	0.935404	0.09141	N	0.842938	T	0.16727	0.0402	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.32561	-0.9902	10	0.12430	T	0.62	.	4.9907	0.14213	0.0:0.5785:0.1598:0.2617	.	305;355	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	A	355	ENSP00000326706:P355A	ENSP00000326706:P355A	P	+	1	0	PLEKHO2	62944730	0.000000	0.05858	0.007000	0.13788	0.112000	0.19704	0.094000	0.15107	0.497000	0.27926	0.655000	0.94253	CCC	.	.	none		0.612	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		G	65157677	C	G	65157677	3	3	14	1	0	0	0	0	1	0	0	0	12085	739	26	4	1085	4	PLEKHO2	15	65157677	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	16378161	65157677	37373715	214	3541										
GOLGA6B	55889	hgsc.bcm.edu	37	chr15	72954612	72954612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctaagcccccatccctggcGcccccagcagtgacctctgt	9	19	1	1	rs201791007		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																					p.A289A		Atlas-SNP	.											GOLGA6B,mouth,carcinoma,0,1	GOLGA6B	30	1	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.G867A						scavenged	.						32	31	32					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889	exon11			CCTGGCGCCCCCA		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A		Somatic	237	4	0.0168776		WXS	Illumina HiSeq	Phase_I	255	6	0.0235294	NM_018652	A8MYY7	Silent	SNP	ENST00000421285.3	37	CCDS10245.2																																																																																			G|0.500;A|0.500	0.500	weak		0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954612	G	A	72954612	2	1	14	1	0	0	0	0	0	0	0	1	6558	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	7796935	72954612	29576780	215	3542										
ARID3B	10620	hgsc.bcm.edu	37	chr15	74836319	74836319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagcagcagcagcagcaacaAcagaagcagccacacctggc	10	15	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:74836319A>G	ENST00000346246.5	+	2	273	c.42A>G	c.(40-42)caA>caG	p.Q14Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	14	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcaacaacagaagcagc	0.562																																					p.Q14Q		Atlas-SNP	.											ARID3B,right_lower_lobe,carcinoma,0,1	ARID3B	35	1	0			c.A42G						scavenged	.						18	21	20					15																	74836319		2196	4294	6490	SO:0001819	synonymous_variant	10620	exon2			GCAACAACAGAAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.42A>G	15.37:g.74836319A>G		Somatic	132	6	0.0454545		WXS	Illumina HiSeq	Phase_I	178	9	0.0505618	NM_006465	O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	CCDS10264.1																																																																																			.	.	none		0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		G	74836319	A	G	74836319	2	3	14	1	0	0	0	0	0	0	0	1	917	40	2	2		2	ARID3B	15	74836319	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	1881707	74836319	27695073	216	3543										
LINS1	55180	hgsc.bcm.edu	37	chr15	101110302	101110302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tttcttttccctgagtcaagCtttcagtggcttcacatcct	6	12	4	1	rs2411837	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr15:101110302C>G	ENST00000314742.8	-	7	1637	c.1415G>C	c.(1414-1416)aGc>aCc	p.S472T	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	472			S -> T (in dbSNP:rs2411837).					p.S472T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CTGAGTCAAGCTTTCAGTGGC	0.338													C|||	1276	0.254792	0.115	0.2219	5008	,	,		17645	0.2252		0.4215	False		,,,				2504	0.3262				p.S472T		Atlas-SNP	.											LINS,NS,carcinoma,0,1	LINS	62	1	1	Substitution - Missense(1)	stomach(1)	c.G1415C						scavenged	.	C	THR/SER	691,3715	263.8+/-265.7	61,569,1573	56	55	56		1415	1.5	0	15	dbSNP_100	56	3716,4882	488.7+/-372.4	815,2086,1398	yes	missense	LINS	NM_001040616.2	58	876,2655,2971	GG,GC,CC		43.2194,15.6832,33.8896	benign	472/758	101110302	4407,8597	2203	4299	6502	SO:0001583	missense	55180	exon7			GTCAAGCTTTCAG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1415G>C	15.37:g.101110302C>G	ENSP00000318423:p.Ser472Thr	Somatic	2	1	0.5		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_001040616	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	616	0.28205128205128205	69	0.1402439024390244	92	0.2541436464088398	132	0.23076923076923078	323	0.4261213720316623	C	6.256	0.415431	0.11870	0.156832	0.432194	ENSG00000140471	ENST00000314742	T	0.18338	2.22	5.48	1.52	0.23074	.	1.019250	0.07759	N	0.949715	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.32467	0.372	B	0.30316	0.114	T	0.47394	-0.9121	9	0.52906	T	0.07	0.0722	8.2917	0.31960	0.0:0.5925:0.0:0.4075	rs2411837;rs17777920;rs52833524;rs2411837	472	Q8NG48	LINES_HUMAN	T	472	ENSP00000318423:S472T	ENSP00000318423:S472T	S	-	2	0	LINS	98927825	0.000000	0.05858	0.025000	0.17156	0.670000	0.39368	-0.174000	0.09839	0.285000	0.22329	0.655000	0.94253	AGC	C|0.688;G|0.310	0.310	strong		0.338	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		G	101110302	C	G	101110302	3	3	14	1	0	0	0	0	1	0	0	0	8818	797	28	4	862	4	LINS1	15	101110302	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	26273983	101110302	1421090	217	3544										
ABCA3	21	hgsc.bcm.edu	37	chr16	2326687	2326687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gccacccctcatcgcccctcCtctgcggtgggcggctgcag	12	19	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:2326687C>A	ENST00000301732.5	-	33	5803	c.5103G>T	c.(5101-5103)gaG>gaT	p.E1701D	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1643D|MIR4717_ENST00000584656.1_RNA	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1701					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATCGCCCCTCCTCTGCGGTGG	0.612																																					p.E1701D		Atlas-SNP	.											ABCA3,NS,carcinoma,-2,1	ABCA3	176	1	0			c.G5103T						PASS	.						47	45	46					16																	2326687		2198	4300	6498	SO:0001583	missense	21	exon33			CCCCTCCTCTGCG	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.5103G>T	16.37:g.2326687C>A	ENSP00000301732:p.Glu1701Asp	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	56	24	0.428571	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328649	0.24167	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.83673	-1.75	5.44	-7.48	0.01360	.	0.438733	0.26503	N	0.024012	T	0.52773	0.1755	N	0.12422	0.21	0.26390	N	0.97659	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.50092	-0.8868	10	0.19590	T	0.45	.	0.6966	0.00900	0.3859:0.1226:0.1741:0.3175	.	1705;1701	Q4LE27;Q99758	.;ABCA3_HUMAN	D	1701;1705	ENSP00000301732:E1701D	ENSP00000301732:E1701D	E	-	3	2	ABCA3	2266688	0.000000	0.05858	0.198000	0.23420	0.008000	0.06430	-0.742000	0.04850	-1.113000	0.02981	-0.895000	0.02911	GAG	.	.	none		0.612	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2326687	C	A	2326687	3	1	14	1	0	0	0	0	1	0	0	0	33	680	24	4	15	4	ABCA3	16	2326687	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		2326687	88028066	218	3545										
EEF2K	29904	hgsc.bcm.edu	37	chr16	22291669	22291669	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atgctgttcacaggaggctaCgggctggagaaggacccgca	15	10	1	1	rs150317840		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:22291669C>A	ENST00000263026.5	+	17	2514	c.2040C>A	c.(2038-2040)taC>taA	p.Y680*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	680					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGAGGCTACGGGCTGGAGA	0.622																																					p.Y680X	NSCLC(195;1411 2157 20319 27471 51856)	Atlas-SNP	.											EEF2K_ENST00000263026,NS,carcinoma,0,2	EEF2K	142	2	0			c.C2040A						scavenged	.						64	47	53					16																	22291669		2197	4300	6497	SO:0001587	stop_gained	29904	exon17			AGGCTACGGGCTG	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2040C>A	16.37:g.22291669C>A	ENSP00000263026:p.Tyr680*	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	91	2	0.021978	NM_013302	Q8N588	Nonsense_Mutation	SNP	ENST00000263026.5	37	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.731940	0.96856	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.58	-7.59	0.01308	.	0.407571	0.31809	N	0.007022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5859	15.2201	0.73306	0.0:0.4341:0.0:0.5659	.	.	.	.	X	680	.	ENSP00000263026:Y680X	Y	+	3	2	EEF2K	22199170	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.792000	0.04594	-2.102000	0.00845	-1.267000	0.01435	TAC	C|1.000;T|0.000	.	alt		0.622	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		A	22291669	C	A	22291669	4	1	14	1	0	0	0	0	0	1	0	0	4930	547	19	4	2102	4	EEF2K	16	22291669	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	19964982	22291669	68063084	219	3546										
CD19	930	hgsc.bcm.edu	37	chr16	28944721	28944721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gccagagatatgtgggtaatGgagacgggtctgttgttgcc	16	6	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:28944721G>A	ENST00000324662.3	+	4	770	c.726G>A	c.(724-726)atG>atA	p.M242I	CD19_ENST00000567541.1_Missense_Mutation_p.M242I|CD19_ENST00000538922.1_Missense_Mutation_p.M242I			P15391	CD19_HUMAN	CD19 molecule	242	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.M242I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TGTGGGTAATGGAGACGGGTC	0.582																																					p.M242I		Atlas-SNP	.											CD19,trunk,malignant_melanoma,0,1	CD19	65	1	1	Substitution - Missense(1)	skin(1)	c.G726A						scavenged	.						68	64	66					16																	28944721		2197	4300	6497	SO:0001583	missense	930	exon4			GGTAATGGAGACG		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.726G>A	16.37:g.28944721G>A	ENSP00000313419:p.Met242Ile	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	83	2	0.0240964	NM_001178098	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	6.453	0.451715	0.12223	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	T;T	0.35048	1.33;1.33	4.26	-0.124	0.13523	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.873430	0.00644	N	0.000525	T	0.28433	0.0703	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.12630	-1.0540	10	0.24483	T	0.36	3.7036	7.3046	0.26440	0.4285:0.0:0.5715:0.0	.	242;242	F5H635;P15391	.;CD19_HUMAN	I	242;242;91	ENSP00000437940:M242I;ENSP00000313419:M242I	ENSP00000313419:M242I	M	+	3	0	CD19	28852222	0.381000	0.25140	0.006000	0.13384	0.019000	0.09904	0.705000	0.25675	0.053000	0.16036	0.313000	0.20887	ATG	.	.	none		0.582	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			A	28944721	G	A	28944721	3	1	14	1	0	0	0	0	1	0	0	0	2973	1348	47	2	740	2	CD19	16	28944721	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6653052	28944721	61410032	220	3547										
SRCAP	10847	hgsc.bcm.edu	37	chr16	30731498	30731498	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggcagcggatagacatgggtCgatttgaccttattggcctg	14	8	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:30731498C>T	ENST00000262518.4	+	19	3218	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R945*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R945*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	945					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R945*(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGACATGGGTCGATTTGACCT	0.502																																					p.R945X		Atlas-SNP	.											SRCAP,NS,carcinoma,0,1	SRCAP	298	1	1	Substitution - Nonsense(1)	ovary(1)	c.C2833T						scavenged	.						218	215	216					16																	30731498		2197	4300	6497	SO:0001587	stop_gained	10847	exon19			ATGGGTCGATTTG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2833C>T	16.37:g.30731498C>T	ENSP00000262518:p.Arg945*	Somatic	249	2	0.00803213		WXS	Illumina HiSeq	Phase_I	253	3	0.0118577	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	40	8.230233	0.98717	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	5.69	5.69	0.88448	.	0.270493	0.26680	N	0.023058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.8432	12.1209	0.53891	0.2744:0.7256:0.0:0.0	.	.	.	.	X	945	.	ENSP00000262518:R945X	R	+	1	2	SRCAP	30638999	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	3.679000	0.54634	2.685000	0.91497	0.484000	0.47621	CGA	.	.	none		0.502	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30731498	C	T	30731498	4	4	14	1	0	0	0	0	0	1	0	0	15134	876	31	1	2899	1	SRCAP	16	30731498	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1786777	30731498	59623255	221	3548										
C16orf58	64755	hgsc.bcm.edu	37	chr16	31510677	31510677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aaacagattgggtatacaggAgccataatctcaaggaacat	9	7	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:31510677A>G	ENST00000327237.2	-	5	585	c.546T>C	c.(544-546)gcT>gcC	p.A182A	C16orf58_ENST00000570164.1_Silent_p.A182A|C16orf58_ENST00000430477.2_Silent_p.A40A|C16orf58_ENST00000567994.1_Silent_p.A137A			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	182						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GGTATACAGGAGCCATAATCT	0.517																																					p.S182S		Atlas-SNP	.											.	C16orf58	28	.	0			c.T546C						PASS	.						94	87	89					16																	31510677		2197	4300	6497	SO:0001819	synonymous_variant	64755	exon5			TACAGGAGCCATA	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.546T>C	16.37:g.31510677A>G		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	175	9	0.0514286	NM_022744	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	ENST00000327237.2	37	CCDS10715.1																																																																																			.	.	none		0.517	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		G	31510677	A	G	31510677	2	3	14	1	0	0	0	0	0	0	0	1	1822	291	11	3		3	C16orf58	16	31510677	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	779179	31510677	58844076	222	3549										
GPR56	9289	hgsc.bcm.edu	37	chr16	57691387	57691387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cctgccttgtcaccattgccGcctacctctgctccaggtga	8	17	2	1	rs147479620	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:57691387G>A	ENST00000388812.4	+	10	1710	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	GPR56_ENST00000568909.1_Missense_Mutation_p.A424T|GPR56_ENST00000538815.1_Missense_Mutation_p.A424T|GPR56_ENST00000456916.1_Missense_Mutation_p.A424T|GPR56_ENST00000562631.1_Missense_Mutation_p.A424T|GPR56_ENST00000388813.5_Missense_Mutation_p.A424T|GPR56_ENST00000540164.2_Missense_Mutation_p.A424T|GPR56_ENST00000379696.3_Missense_Mutation_p.A424T|GPR56_ENST00000544297.1_Missense_Mutation_p.A249T|GPR56_ENST00000568908.1_Missense_Mutation_p.A424T|GPR56_ENST00000379694.4_Missense_Mutation_p.A254T|GPR56_ENST00000567835.1_Missense_Mutation_p.A424T|GPR56_ENST00000562558.1_Missense_Mutation_p.A424T			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	424					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CACCATTGCCGCCTACCTCTG	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		13233	0.0		0.002	False		,,,				2504	0.0				p.A429T		Atlas-SNP	.											.	GPR56	44	.	0			c.G1285A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4396		0,0,2198	153	137	142		1270,1270,1270,1285,1270,1270,1270,1270	1.7	1	16	dbSNP_134	142	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense	GPR56	NM_001145770.1,NM_001145771.1,NM_001145772.1,NM_001145773.1,NM_001145774.1,NM_005682.5,NM_201524.2,NM_201525.2	58,58,58,58,58,58,58,58	0,9,6489	AA,AG,GG		0.1047,0.0,0.0693	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	424/688,424/694,424/688,429/693,424/688,424/694,424/688,424/688	57691387	9,12987	2198	4300	6498	SO:0001583	missense	9289	exon10			ATTGCCGCCTACC	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1270G>A	16.37:g.57691387G>A	ENSP00000373464:p.Ala424Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	24	20	0.833333	NM_001145773	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.17	2.455466	0.43634	0.0	0.001047	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.47177	1.13;0.85;1.13;0.85;1.13;0.85;0.85;0.85	5.11	1.66	0.24008	GPCR, family 2-like (1);	0.474781	0.19007	N	0.125183	T	0.15522	0.0374	N	0.02391	-0.57	0.29960	N	0.819489	P;P;B;P;P	0.49783	0.911;0.928;0.37;0.91;0.928	B;B;B;B;B	0.40534	0.224;0.332;0.04;0.264;0.332	T	0.07385	-1.0775	10	0.13470	T	0.59	.	3.5997	0.08020	0.2112:0.0:0.4261:0.3628	.	249;429;424;424;254	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	T	424;424;424;424;424;249;254;424	ENSP00000373465:A424T;ENSP00000373464:A424T;ENSP00000444415:A424T;ENSP00000398034:A424T;ENSP00000444911:A424T;ENSP00000438006:A249T;ENSP00000369016:A254T;ENSP00000369018:A424T	ENSP00000369016:A254T	A	+	1	0	GPR56	56248888	0.879000	0.30193	0.974000	0.42286	0.663000	0.39108	1.354000	0.34056	1.142000	0.42291	0.491000	0.48974	GCC	G|0.999;A|0.001	0.001	strong		0.647	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			A	57691387	G	A	57691387	3	1	14	1	0	0	0	0	1	0	0	0	6700	1087	38	1	1319	1	GPR56	16	57691387	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	26180710	57691387	32663366	223	3550										
MMP15	4324	hgsc.bcm.edu	37	chr16	58073912	58073912	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aggacatccggctgcggcgaCagaaggaggccgacatcatg	15	11	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:58073912C>T	ENST00000219271.3	+	4	1359	c.574C>T	c.(574-576)Cag>Tag	p.Q192*		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	192					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GCTGCGGCGACAGAAGGAGGC	0.652																																					p.Q192X		Atlas-SNP	.											MMP15,NS,malignant_melanoma,0,1	MMP15	58	1	0			c.C574T						PASS	.						69	62	64					16																	58073912		2198	4300	6498	SO:0001587	stop_gained	4324	exon4			CGGCGACAGAAGG	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.574C>T	16.37:g.58073912C>T	ENSP00000219271:p.Gln192*	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	48	6	0.125	NM_002428	A0A2U6|Q14111	Nonsense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	44	11.154668	0.99523	.	.	ENSG00000102996	ENST00000219271	.	.	.	4.68	4.68	0.58851	.	0.189298	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	6.2159	0.20656	0.1999:0.7043:0.0:0.0958	.	.	.	.	X	192	.	ENSP00000219271:Q192X	Q	+	1	0	MMP15	56631413	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.584000	0.36589	2.157000	0.67596	0.455000	0.32223	CAG	.	.	none		0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		T	58073912	C	T	58073912	4	4	14	1	0	0	0	0	0	1	0	0	9654	479	17	2	588	2	MMP15	16	58073912	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	382525	58073912	32280841	224	3551										
EXOC3L	283849	hgsc.bcm.edu	37	chr16	67220777	67220777	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtgcattctgcagccactgaGacacacttgcctggggggag	14	11	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:67220777G>A	ENST00000314586.6	-	7	1409	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	390					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAGCCACTGAGACACACTTGC	0.592																																					p.S390F		Atlas-SNP	.											.	EXOC3L1	52	.	0			c.C1169T						PASS	.						55	60	58					16																	67220777		2198	4300	6498	SO:0001583	missense	283849	exon7			CACTGAGACACAC	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1169C>T	16.37:g.67220777G>A	ENSP00000325674:p.Ser390Phe	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	28	25	0.892857	NM_178516	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	7.721	0.697108	0.15106	.	.	ENSG00000179044	ENST00000314586	T	0.07114	3.22	5.19	3.21	0.36854	.	0.413929	0.26723	N	0.022835	T	0.05318	0.0141	N	0.14661	0.345	0.22754	N	0.998779	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.56958	D	0.05	-0.2662	9.1371	0.36881	0.2452:0.0:0.7548:0.0	.	390	Q86VI1	EX3L1_HUMAN	F	390	ENSP00000325674:S390F	ENSP00000325674:S390F	S	-	2	0	EXOC3L1	65778278	0.101000	0.21875	0.823000	0.32752	0.108000	0.19459	2.780000	0.47742	0.576000	0.29452	0.455000	0.32223	TCT	.	.	none		0.592	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		A	67220777	G	A	67220777	3	1	14	1	0	0	0	0	1	0	0	0	5304	942	33	2	1103	2	EXOC3L	16	67220777	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	9146865	67220777	23133976	225	3552										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71025245	71025245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagatcacactggaagctttCgtttttcttagttctttttc	7	8	3	1	rs1774516	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr16:71025245C>T	ENST00000393567.2	-	25	3990	c.3840G>A	c.(3838-3840)acG>acA	p.T1280T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGAAGCTTTCGTTTTTCTTA	0.463																																					p.T1280T		Atlas-SNP	.											LOC652153,NS,carcinoma,-1,2	HYDIN	788	2	0			c.G3840A						scavenged	.						130	119	122					16																	71025245		1909	4145	6054	SO:0001819	synonymous_variant	54768	exon25			AGCTTTCGTTTTT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3840G>A	16.37:g.71025245C>T		Somatic	147	17	0.115646		WXS	Illumina HiSeq	Phase_I	96	28	0.291667	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																			C|0.977;T|0.023	0.023	strong		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71025245	C	T	71025245	2	4	14	1	0	0	0	0	0	0	0	1	7467	871	31	1		1	HYDIN	16	71025245	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3804468	71025245	19329508	226	3553										
USP6	9098	hgsc.bcm.edu	37	chr17	5049419	5049419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agctgagggatctctgtggaCttaattcagaacaaatccta	9	8	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:5049419C>G	ENST00000574788.1	+	28	4499	c.2269C>G	c.(2269-2271)Ctt>Gtt	p.L757V	USP6_ENST00000332776.4_Missense_Mutation_p.L757V|USP6_ENST00000250066.6_Missense_Mutation_p.L757V|USP6_ENST00000304328.5_Missense_Mutation_p.L440V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	757	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTCTGTGGACTTAATTCAGA	0.358			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																p.L757V		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213	.	0			c.C2269G						PASS	.						149	147	148					17																	5049419		2203	4300	6503	SO:0001583	missense	9098	exon20			TGTGGACTTAATT	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2269C>G	17.37:g.5049419C>G	ENSP00000460380:p.Leu757Val	Somatic	425	0	0		WXS	Illumina HiSeq	Phase_I	457	172	0.376368	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	8.818	0.936782	0.18206	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.14144	2.53;2.94;2.55	2.55	2.55	0.30701	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	N	0.16833	0.445	0.50813	D	0.999894	D;D	0.71674	0.998;0.966	D;P	0.77557	0.99;0.908	T	0.23655	-1.0182	10	0.15499	T	0.54	.	5.4016	0.16299	0.0:0.8349:0.0:0.1651	.	440;757	P35125-2;P35125	.;UBP6_HUMAN	V	757;757;440	ENSP00000328010:L757V;ENSP00000250066:L757V;ENSP00000305473:L440V	ENSP00000250066:L757V	L	+	1	0	USP6	4990143	1.000000	0.71417	0.999000	0.59377	0.133000	0.20885	3.846000	0.55888	1.433000	0.47394	0.194000	0.17425	CTT	.	.	none		0.358	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		G	5049419	C	G	5049419	3	3	14	1	0	0	0	0	1	0	0	0	17083	565	20	4	2343	4	USP6	17	5049419	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		5049419	76145791	227	3554										
UBB	7314	hgsc.bcm.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					p.T90T	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,2	UBB	30	2	0			c.C270T						scavenged	.						75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314	exon2			CATCACCCTGGAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	130	3	0.0230769	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			C|0.996;T|0.004	0.004	strong		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285491	C	T	16285491	2	4	14	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	11236072	16285491	64909719	228	3555										
UBB	7314	hgsc.bcm.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.Q107Q|UBB_ENST00000395839.1_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					p.Q107Q	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,NS,carcinoma,0,1	UBB	30	1	1	Substitution - coding silent(1)	lung(1)	c.G321A						scavenged	.						114	110	112					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314	exon2			GATCCAGGATAAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A		Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	174	5	0.0287356	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|0.540;A|0.460	0.460	strong		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		A	16285542	G	A	16285542	2	1	14	1	0	0	0	0	0	0	0	1	16838	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	51	16285542	64909668	229	3556										
PLD6	201164	hgsc.bcm.edu	37	chr17	17106253	17106253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caaattcttccagaaaaagcCgcacgtactcgtcgtcctcc	6	15	1	1	rs201208806		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:17106253C>T	ENST00000321560.3	-	2	615	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	196					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						CAGAAAAAGCCGCACGTACTC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20543	0.0		0.0	False		,,,				2504	0.0				p.R196Q		Atlas-SNP	.											PLD6,right_upper_lobe,carcinoma,+1,1	PLD6	9	1	0			c.G587A						scavenged	.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	135	132	133		587	-0.3	0.4	17		133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PLD6	NM_178836.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	196/253	17106253	2,13004	2203	4300	6503	SO:0001583	missense	201164	exon2			AAAAGCCGCACGT	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.587G>A	17.37:g.17106253C>T	ENSP00000317177:p.Arg196Gln	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	192	3	0.015625	NM_178836	Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	37	CCDS11182.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.08	2.130140	0.37630	2.27E-4	1.16E-4	ENSG00000179598	ENST00000321560	T	0.20463	2.07	5.6	-0.318	0.12728	.	0.352194	0.27936	N	0.017256	T	0.11665	0.0284	N	0.20574	0.59	0.30815	N	0.738383	B	0.22080	0.064	B	0.20955	0.032	T	0.18745	-1.0327	10	0.26408	T	0.33	-16.8066	10.8068	0.46522	0.0:0.3963:0.0:0.6037	.	196	Q8N2A8	PLD6_HUMAN	Q	196	ENSP00000317177:R196Q	ENSP00000317177:R196Q	R	-	2	0	PLD6	17046978	0.199000	0.23386	0.431000	0.26735	0.822000	0.46500	-0.405000	0.07196	-0.035000	0.13691	0.655000	0.94253	CGG	C|1.000;T|0.000	0.000	strong		0.507	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		T	17106253	C	T	17106253	3	4	14	1	0	0	0	0	1	0	0	0	12050	652	23	1	175	1	PLD6	17	17106253	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	820711	17106253	64088957	230	3557										
MAP2K3	5606	hgsc.bcm.edu	37	chr17	21208440	21208440	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggagcctgggcatcaccatGgtactgtggggggccagggc	18	10	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:21208440G>A	ENST00000342679.4	+	9	1023	c.774G>A	c.(772-774)atG>atA	p.M258I	MAP2K3_ENST00000361818.5_Splice_Site_p.M229I|MAP2K3_ENST00000316920.6_Splice_Site_p.M229I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCATCACCATGGTACTGTGGG	0.612																																					p.M258I		Atlas-SNP	.											.	MAP2K3	135	.	0			c.G774A						PASS	.						113	99	104					17																	21208440		2203	4300	6503	SO:0001630	splice_region_variant	5606	exon9			CACCATGGTACTG	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.774+1G>A	17.37:g.21208440G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	124	17	0.137097	NM_145109	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705218	0.68615	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.62941	-0.01;-0.01	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	N	0.01134	-0.995	0.80722	D	1	B	0.32160	0.358	B	0.34242	0.178	T	0.52185	-0.8609	10	0.51188	T	0.08	-50.5579	18.2339	0.89944	0.0:0.0:1.0:0.0	.	258	P46734	MP2K3_HUMAN	I	258;229;229;262	ENSP00000345083:M258I;ENSP00000355081:M229I	ENSP00000319139:M262I	M	+	3	0	MAP2K3	21149033	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.690000	0.98676	2.309000	0.77851	0.462000	0.41574	ATG	.	.	none		0.612	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	Missense_Mutation	A	21208440	G	A	21208440	5	1	14	1	0	0	0	0	0	0	1	0	9238	1362	47	2	808	2	MAP2K3	17	21208440	Splice_Site	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4102187	21208440	59986770	231	3558										
TAOK1	57551	hgsc.bcm.edu	37	chr17	27829683	27829683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	atctccaccccaagtatctcGtcacaaatcacactatcgta	3	15	4	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:27829683G>A	ENST00000261716.3	+	13	1799	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	TAOK1_ENST00000536202.1_Missense_Mutation_p.R427H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	427					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CAAGTATCTCGTCACAAATCA	0.373																																					p.R427H		Atlas-SNP	.											.	TAOK1	151	.	0			c.G1280A						PASS	.						173	141	152					17																	27829683		2203	4300	6503	SO:0001583	missense	57551	exon13			TATCTCGTCACAA	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1280G>A	17.37:g.27829683G>A	ENSP00000261716:p.Arg427His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	146	65	0.445205	NM_025142	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539205	0.96474	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.43294	0.95;0.95	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.050877	0.85682	D	0.000000	T	0.46889	0.1416	L	0.34521	1.04	0.80722	D	1	D;P;B	0.67145	0.996;0.853;0.004	P;P;B	0.50708	0.648;0.616;0.006	T	0.30851	-0.9964	10	0.48119	T	0.1	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	427;253;427	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	H	427	ENSP00000261716:R427H;ENSP00000438819:R427H	ENSP00000261716:R427H	R	+	2	0	TAOK1	24853809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.701000	0.74624	2.854000	0.98071	0.655000	0.94253	CGT	.	.	none		0.373	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		A	27829683	G	A	27829683	3	1	14	1	0	0	0	0	1	0	0	0	15544	1145	40	1	1326	1	TAOK1	17	27829683	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6621243	27829683	53365527	232	3559										
DDX52	11056	hgsc.bcm.edu	37	chr17	36003419	36003419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtcgaatttggcccccgcgcCgagccggcgaaagagatcgt	14	13	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:36003419C>T	ENST00000349699.2	-	1	74	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	11						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCCCCCGCGCCGAGCCGGCGA	0.632																																					p.G11S		Atlas-SNP	.											.	DDX52	40	.	0			c.G31A						PASS	.						44	45	45					17																	36003419		2203	4300	6503	SO:0001583	missense	11056	exon1			CCGCGCCGAGCCG	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.31G>A	17.37:g.36003419C>T	ENSP00000268854:p.Gly11Ser	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	4	0.0754717	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871577	0.33069	.	.	ENSG00000141141	ENST00000349699	T	0.13778	2.56	5.5	4.53	0.55603	.	2.488010	0.00945	N	0.002898	T	0.13970	0.0338	L	0.41710	1.295	0.80722	D	1	B	0.26672	0.156	B	0.18263	0.021	T	0.43637	-0.9379	10	0.07990	T	0.79	.	11.6948	0.51538	0.1761:0.8239:0.0:0.0	.	11	Q9Y2R4	DDX52_HUMAN	S	11	ENSP00000268854:G11S	ENSP00000268854:G11S	G	-	1	0	DDX52	33077532	0.436000	0.25586	0.246000	0.24233	0.197000	0.23852	2.315000	0.43752	1.555000	0.49500	-0.152000	0.13540	GGC	.	.	none		0.632	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		T	36003419	C	T	36003419	3	4	14	1	0	0	0	0	1	0	0	0	4370	652	23	1	1828	1	DDX52	17	36003419	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	8173736	36003419	45191791	233	3560										
KRT24	192666	hgsc.bcm.edu	37	chr17	38859553	38859553	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccagagaaaagccccccatcGccaacaccacctcccatacc	4	21	0	1	rs367736597		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:38859553G>T	ENST00000264651.2	-	1	449	c.393C>A	c.(391-393)ggC>ggA	p.G131G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	131	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCCCCCCATCGCCAACACCAC	0.537																																					p.G131G	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											.	KRT24	60	.	0			c.C393A						PASS	.						176	194	188					17																	38859553		2203	4300	6503	SO:0001819	synonymous_variant	192666	exon1			CCCATCGCCAACA		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.393C>A	17.37:g.38859553G>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	69	34	0.492754	NM_019016	Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																			.	.	alt		0.537	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		T	38859553	G	T	38859553	2	4	14	1	0	0	0	0	0	0	0	1	8461	1074	38	4		4	KRT24	17	38859553	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2856134	38859553	42335657	234	3561										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240790	39240790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgccagcccacctgctgccGccccagctgctgccgcccct	9	23	0	0	rs11650261|rs553572799	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:39240790G>A	ENST00000391417.4	+	1	332	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	136	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						acctgctgccgccccagctgc	0.657													g|||	343	0.0684904	0.0272	0.1196	5008	,	,		10689	0.0685		0.1153	False		,,,				2504	0.0399				p.R111H		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,3	KRTAP4-7	49	3	2	Unknown(1)|Deletion - In frame(1)	NS(2)	c.G332A						scavenged	.						11	13	12					17																	39240790		682	1579	2261	SO:0001583	missense	100132476	exon1			GCTGCCGCCCCAG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.332G>A	17.37:g.39240790G>A	ENSP00000375236:p.Arg111His	Somatic	68	3	0.0441176		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	148	0.06776556776556776	22	0.044715447154471545	32	0.08839779005524862	22	0.038461538461538464	72	0.09498680738786279	.	6.498	0.460116	0.12342	.	.	ENSG00000240871	ENST00000391417	T	0.00612	6.22	3.95	-0.91	0.10511	.	8.977930	0.00616	U	0.000420	T	0.00039	0.0001	.	.	.	0.09310	N	1	D	0.60575	0.988	P	0.46389	0.515	T	0.44050	-0.9353	9	0.48119	T	0.1	.	3.4362	0.07446	0.2202:0.0:0.299:0.4808	rs11650261	166	Q9BYR0	KRA47_HUMAN	H	111	ENSP00000375236:R111H	ENSP00000375236:R111H	R	+	2	0	KRTAP4-7	36494316	0.000000	0.05858	0.005000	0.12908	0.119000	0.20118	0.218000	0.17622	0.230000	0.21059	-0.391000	0.06502	CGC	G|0.932;A|0.068	0.068	strong		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240790	G	A	39240790	3	1	14	1	0	0	0	0	1	0	0	0	8555	1087	38	1	334	1	KRTAP4-7	17	39240790	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	381237	39240790	41954420	235	3562										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240804	39240804	+	Missense_Mutation	SNP	C	C	A													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctgccgccccagctgctgcCgcccctgctgctgcctgcgt							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:39240804C>A	ENST00000391417.4	+	1	346	c.346C>A	c.(346-348)Cgc>Agc	p.R116S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgccgcccctgctg	0.672																																					p.R116S		Atlas-SNP	.											KRTAP4-7,caecum,carcinoma,0,1	KRTAP4-7	49	1	0			c.C346A						scavenged	.						15	16	16					17																	39240804		692	1588	2280	SO:0001583	missense	100132476	exon1			TGCTGCCGCCCCT	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.346C>A	17.37:g.39240804C>A	ENSP00000375236:p.Arg116Ser	Somatic	63	1	0.015873		WXS	Illumina HiSeq	Phase_I	54	5	0.0925926	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.524493	0.00959	.	.	ENSG00000240871	ENST00000391417	T	0.00596	6.32	3.15	-6.29	0.02013	.	0.163808	0.19966	U	0.102091	T	0.00241	0.0007	.	.	.	0.09310	N	0.999997	B	0.33748	0.423	B	0.29524	0.103	T	0.47661	-0.9100	9	0.11794	T	0.64	.	1.8893	0.03244	0.1228:0.1811:0.2435:0.4526	.	171	Q9BYR0	KRA47_HUMAN	S	116	ENSP00000375236:R116S	ENSP00000375236:R116S	R	+	1	0	KRTAP4-7	36494330	0.000000	0.05858	0.002000	0.10522	0.468000	0.32798	-3.208000	0.00557	-2.496000	0.00513	-0.734000	0.03567	CGC	.	.	none		0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240804	C	A	39240804	3	1	14	1	0	0	0	0	1	0	0	0	8555	652	23	4	348	4	KRTAP4-7	17	39240804	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	14	39240804	41954406	236	3563	61	2								
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240805	39240805	+	Missense_Mutation	SNP	G	G	T													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgccgccccagctgctgccGcccctgctgctgcctgcgtc							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:39240805G>T	ENST00000391417.4	+	1	347	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgccgcccctgctgc	0.672																																					p.R116L		Atlas-SNP	.											KRTAP4-7,caecum,carcinoma,+1,1	KRTAP4-7	49	1	0			c.G347T						scavenged	.						18	18	18					17																	39240805		692	1587	2279	SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.347G>T	17.37:g.39240805G>T	ENSP00000375236:p.Arg116Leu	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	55	5	0.0909091	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	6.805	0.517638	0.13005	.	.	ENSG00000240871	ENST00000391417	T	0.00606	6.26	3.15	2.13	0.27403	.	0.163808	0.19966	U	0.102091	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.45804	-0.9236	9	0.28530	T	0.3	.	9.2621	0.37619	0.0:0.0:0.7821:0.2179	.	171	Q9BYR0	KRA47_HUMAN	L	116	ENSP00000375236:R116L	ENSP00000375236:R116L	R	+	2	0	KRTAP4-7	36494331	0.000000	0.05858	0.028000	0.17463	0.502000	0.33828	-0.081000	0.11321	0.603000	0.29913	0.289000	0.19496	CGC	.	.	none		0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240805	G	T	39240805	3	4	14	1	0	0	0	0	1	0	0	0	8555	1087	38	4	349	4	KRTAP4-7	17	39240805	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1	39240805	41954405	237	3564	61	2								
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274172	39274172	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagctggggtggcagcaggtGggctggcagcacacagactg	18	10	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:39274172G>T	ENST00000391413.2	-	1	434	c.396C>A	c.(394-396)ccC>ccA	p.P132P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	132	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggcagcaggtgggctggcagc	0.672																																					p.P132P		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,-2,2	KRTAP4-11	94	2	0			c.C396A						scavenged	.						7	12	11					17																	39274172		675	1578	2253	SO:0001819	synonymous_variant	653240	exon1			GCAGGTGGGCTGG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.396C>A	17.37:g.39274172G>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_033059	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.	.	none		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274172	G	T	39274172	2	4	14	1	0	0	0	0	0	0	0	1	8549	1335	47	4		4	KRTAP4-11	17	39274172	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	33367	39274172	41921038	238	3565										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324104	39324104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caggaaggcctgcagcaactAgaaatgcagcagctggggcg	15	10	0	1	rs368619075		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:39324104A>G	ENST00000391356.2	-	1	320	c.321T>C	c.(319-321)tcT>tcC	p.S107S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	107	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		Missing (in allele KAP3-v2). {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S107S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAACTAGAAATGCAGC	0.597																																					p.S107S		Atlas-SNP	.											KRTAP4-3,colon,carcinoma,0,1	KRTAP4-3	40	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T321C						scavenged	.						18	23	21					17																	39324104		2109	4252	6361	SO:0001819	synonymous_variant	85290	exon1			GCAACTAGAAATG	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.321T>C	17.37:g.39324104A>G		Somatic	206	6	0.0291262		WXS	Illumina HiSeq	Phase_I	314	9	0.0286624	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			.	.	weak		0.597	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324104	A	G	39324104	2	3	14	1	0	0	0	0	0	0	0	1	8552	407	15	3		3	KRTAP4-3	17	39324104	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	49932	39324104	41871106	239	3566										
PSME3	10197	hgsc.bcm.edu	37	chr17	40985663	40985663	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ccggccatggcctcgttgctGaaggtggatcaggaagtgaa	15	9	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:40985663G>A	ENST00000590720.1	+	1	248	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PSME3_ENST00000592169.1_Silent_p.L5L|PSME3_ENST00000541124.1_Silent_p.L5L|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000545225.1_Intron|PSME3_ENST00000441946.2_5'UTR|PSME3_ENST00000293362.3_Silent_p.L5L			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTCGTTGCTGAAGGTGGATC	0.652																																					p.L5L		Atlas-SNP	.											.	PSME3	11	.	0			c.G15A						PASS	.						69	58	62					17																	40985663		2203	4300	6503	SO:0001819	synonymous_variant	10197	exon1			GTTGCTGAAGGTG	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.15G>A	17.37:g.40985663G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	160	70	0.4375	NM_176863	A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Silent	SNP	ENST00000590720.1	37	CCDS45689.1																																																																																			.	.	none		0.652	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		A	40985663	G	A	40985663	2	1	14	1	0	0	0	0	0	0	0	1	12708	1277	45	2		2	PSME3	17	40985663	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1661559	40985663	40209547	240	3567										
IMP5	162540	hgsc.bcm.edu	37	chr17	43923211	43923211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cggcaataccagaggcctccGcacagcctctgggcctctct	10	17	2	1	rs150961436		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:43923211G>A	ENST00000329196.5	+	1	956	c.939G>A	c.(937-939)ccG>ccA	p.P313P	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	313						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										AGAGGCCTCCGCACAGCCTCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17815	0.0		0.0	False		,,,				2504	0.0				p.P313P		Atlas-SNP	.											IMP5,colon,carcinoma,+1,1	.	.	1	0			c.G939A						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	47	51	50		939	1.1	0	17	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	IMP5	NM_175882.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		313/685	43923211	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162540	exon1			GCCTCCGCACAGC		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.939G>A	17.37:g.43923211G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_175882	Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																			G|1.000;A|0.000	0.000	weak		0.642	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		A	43923211	G	A	43923211	2	1	14	1	0	0	0	0	0	0	0	1	7721	1074	38	1		1	IMP5	17	43923211	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2937548	43923211	37271999	241	3568										
CDC27	996	hgsc.bcm.edu	37	chr17	45234463	45234463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caaggagtactttgaattggAagattctaaattcaatctgt	8	5	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:45234463A>C	ENST00000066544.3	-	7	751	c.658T>G	c.(658-660)Tcc>Gcc	p.S220A	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S220A|CDC27_ENST00000446365.2_Missense_Mutation_p.S159A|CDC27_ENST00000527547.1_Missense_Mutation_p.S220A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTGAATTGGAAGATTCTAAA	0.323																																					p.S220A		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27	337	2	0			c.T658G						scavenged	.						25	27	26					17																	45234463		2153	4281	6434	SO:0001583	missense	996	exon7			AATTGGAAGATTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.658T>G	17.37:g.45234463A>C	ENSP00000066544:p.Ser220Ala	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	45	3	0.0666667	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291146	0.40494	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.68331	-0.32;-0.27;-0.05;-0.32;0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	N	0.19112	0.55	0.58432	D	0.999998	B;B;B;B	0.21225	0.013;0.023;0.053;0.031	B;B;B;B	0.15484	0.004;0.004;0.013;0.009	T	0.45086	-0.9285	10	0.07175	T	0.84	-13.9867	13.9377	0.64034	1.0:0.0:0.0:0.0	.	159;220;220;220	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	A	220;220;159;220;220	ENSP00000066544:S220A;ENSP00000434614:S220A;ENSP00000392802:S159A;ENSP00000437339:S220A;ENSP00000432105:S220A	ENSP00000066544:S220A	S	-	1	0	CDC27	42589462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.754000	0.91642	2.180000	0.69256	0.455000	0.32223	TCC	.	.	none		0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45234463	A	C	45234463	3	2	14	1	0	0	0	0	1	0	0	0	3066	246	9	5	1886	5	CDC27	17	45234463	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	1311252	45234463	35960747	242	3569										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45331302	45331302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcgctggcgggcgttggcgtAggaggtgagtgaggctccgg	22	8	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:45331302A>G	ENST00000559488.1	+	1	91	c.75A>G	c.(73-75)gtA>gtG	p.V25V	ITGB3_ENST00000560629.1_Missense_Mutation_p.R14G|ITGB3_ENST00000435993.2_5'UTR|ITGB3_ENST00000571680.1_Silent_p.V25V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	25					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)	GCGTTGGCGTAGGAGGTGAGT	0.756																																					p.V25V		Atlas-SNP	.											.	ITGB3	157	.	0			c.A75G						PASS	.						3	4	4					17																	45331302		1794	3699	5493	SO:0001819	synonymous_variant	3690	exon1			TGGCGTAGGAGGT		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.75A>G	17.37:g.45331302A>G		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	7	5	0.714286	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	CCDS11511.1																																																																																			.	.	none		0.756	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		G	45331302	A	G	45331302	2	3	14	1	0	0	0	0	0	0	0	1	7895	407	15	3		3	ITGB3	17	45331302	Silent	SNP	A	TCGA-FF-8047-01A-11D-2210-10	96839	45331302	35863908	243	3570										
CHAD	1101	hgsc.bcm.edu	37	chr17	48543124	48543124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gggttattggtaagggcgagGgtctccaggctgtcgaaggg	19	6	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:48543124G>A	ENST00000508540.1	-	2	1034	c.882C>T	c.(880-882)acC>acT	p.T294T	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.T294T|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	294					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TAAGGGCGAGGGTCTCCAGGC	0.572																																					p.T294T		Atlas-SNP	.											.	CHAD	36	.	0			c.C882T						PASS	.						178	158	164					17																	48543124		2203	4300	6503	SO:0001819	synonymous_variant	1101	exon2			GGCGAGGGTCTCC	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.882C>T	17.37:g.48543124G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	92	40	0.434783	NM_001267	A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	CCDS11568.1																																																																																			.	.	none		0.572	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48543124	G	A	48543124	2	1	14	1	0	0	0	0	0	0	0	1	3310	1219	43	2		2	CHAD	17	48543124	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	3211822	48543124	32652086	244	3571										
OR4D1	26689	hgsc.bcm.edu	37	chr17	56232687	56232687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgactgccggctccacacacCcatgtattttctgctccgaa	7	15	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:56232687C>A	ENST00000268912.5	+	1	194	c.173C>A	c.(172-174)cCc>cAc	p.P58H		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	58					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTCCACACACCCATGTATTTT	0.473																																					p.P58H		Atlas-SNP	.											.	OR4D1	48	.	0			c.C173A						PASS	.						175	172	173					17																	56232687		2114	4269	6383	SO:0001583	missense	26689	exon1			ACACACCCATGTA	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.173C>A	17.37:g.56232687C>A	ENSP00000365451:p.Pro58His	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	131	64	0.48855	NM_012374	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.369670	0.82573	.	.	ENSG00000141194	ENST00000268912	T	0.02050	4.48	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000991	T	0.22742	0.0549	H	0.97131	3.945	0.58432	D	0.99999	D	0.76494	0.999	D	0.72338	0.977	T	0.25433	-1.0132	10	0.87932	D	0	-29.8376	17.1781	0.86846	0.0:1.0:0.0:0.0	.	58	Q15615	OR4D1_HUMAN	H	58	ENSP00000365451:P58H	ENSP00000365451:P58H	P	+	2	0	OR4D1	53587686	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	5.971000	0.70440	2.652000	0.90054	0.543000	0.68304	CCC	.	.	none		0.473	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			A	56232687	C	A	56232687	3	1	14	1	0	0	0	0	1	0	0	0	11053	623	22	4	175	4	OR4D1	17	56232687	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	7689563	56232687	24962523	245	3572										
LIMD2	80774	hgsc.bcm.edu	37	chr17	61775957	61775957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	acctccttgtgggcccagagCtccttgtgctgcttgcggcc	12	15	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:61775957C>T	ENST00000259006.3	-	5	497	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LIMD2_ENST00000578061.1_Silent_p.E113E|LIMD2_ENST00000582055.1_Silent_p.E64E|LIMD2_ENST00000583211.1_Silent_p.E64E|LIMD2_ENST00000578993.1_Silent_p.E73E|LIMD2_ENST00000578402.1_Silent_p.E113E	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	113							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						GGGCCCAGAGCTCCTTGTGCT	0.637																																					p.E113E		Atlas-SNP	.											.	LIMD2	6	.	0			c.G339A						PASS	.						67	53	58					17																	61775957		2203	4300	6503	SO:0001819	synonymous_variant	80774	exon5			CCAGAGCTCCTTG	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.339G>A	17.37:g.61775957C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	55	23	0.418182	NM_030576	D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	CCDS11641.1																																																																																			.	.	none		0.637	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		T	61775957	C	T	61775957	2	4	14	1	0	0	0	0	0	0	0	1	8799	796	28	2		2	LIMD2	17	61775957	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5543270	61775957	19419253	246	3573										
LIMD2	80774	hgsc.bcm.edu	37	chr17	61776164	61776164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agggcaggggcgcacctgagCttggtgtgacagtgcttgca	17	9	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:61776164C>T	ENST00000259006.3	-	4	377	c.219G>A	c.(217-219)aaG>aaA	p.K73K	LIMD2_ENST00000578061.1_Silent_p.K73K|LIMD2_ENST00000582055.1_Silent_p.K24K|LIMD2_ENST00000583211.1_Silent_p.K24K|LIMD2_ENST00000578993.1_Silent_p.K33K|LIMD2_ENST00000578402.1_Silent_p.K73K	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	73	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						CGCACCTGAGCTTGGTGTGAC	0.657																																					p.K73K		Atlas-SNP	.											.	LIMD2	6	.	0			c.G219A						PASS	.						44	44	44					17																	61776164		2203	4300	6503	SO:0001819	synonymous_variant	80774	exon4			CCTGAGCTTGGTG	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.219G>A	17.37:g.61776164C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	91	39	0.428571	NM_030576	D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	CCDS11641.1																																																																																			.	.	none		0.657	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		T	61776164	C	T	61776164	2	4	14	1	0	0	0	0	0	0	0	1	8799	796	28	2		2	LIMD2	17	61776164	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	207	61776164	19419046	247	3574										
WIPI1	55062	hgsc.bcm.edu	37	chr17	66449072	66449072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcttccgtggacttgatccaGctgctccacagaactcagag	10	13	1	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:66449072G>A	ENST00000262139.5	-	2	141	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	48					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTTGATCCAGCTGCTCCACA	0.502																																					p.L48L		Atlas-SNP	.											.	WIPI1	46	.	0			c.C142T						PASS	.						121	106	111					17																	66449072		2203	4300	6503	SO:0001819	synonymous_variant	55062	exon2			GATCCAGCTGCTC		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.142C>T	17.37:g.66449072G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_017983	Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	CCDS11677.1																																																																																			.	.	none		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		A	66449072	G	A	66449072	2	1	14	1	0	0	0	0	0	0	0	1	17367	962	34	2		2	WIPI1	17	66449072	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	4672908	66449072	14746138	248	3575										
OTOP2	92736	hgsc.bcm.edu	37	chr17	72923357	72923357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctgctaaagactgcgttcacGtccacctggatctgacctgg	10	13	2	2	rs374632139		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr17:72923357G>A	ENST00000580223.1	+	3	520	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	OTOP2_ENST00000331427.4_Missense_Mutation_p.V164I			Q7RTS6	OTOP2_HUMAN	otopetrin 2	164						integral component of membrane (GO:0016021)		p.V164I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCGTTCACGTCCACCTGGA	0.532																																					p.V164I		Atlas-SNP	.											OTOP2,NS,carcinoma,0,1	OTOP2	81	1	1	Substitution - Missense(1)	prostate(1)	c.G490A						PASS	.	G	ILE/VAL	0,4406		0,0,2203	169	136	147		490	-4.9	0	17		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOP2	NM_178160.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	164/563	72923357	1,13005	2203	4300	6503	SO:0001583	missense	92736	exon4			GTTCACGTCCACC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.490G>A	17.37:g.72923357G>A	ENSP00000463837:p.Val164Ile	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	185	89	0.481081	NM_178160		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785922	0.16189	0.0	1.16E-4	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.96	-4.9	0.03094	.	1.057470	0.07294	N	0.873019	T	0.15003	0.0362	L	0.33753	1.03	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.36456	-0.9747	10	0.21540	T	0.41	-6.2717	13.0707	0.59059	0.6472:0.0:0.3528:0.0	.	164	Q7RTS6	OTOP2_HUMAN	I	164	ENSP00000332528:V164I	ENSP00000332528:V164I	V	+	1	0	OTOP2	70434952	0.000000	0.05858	0.021000	0.16686	0.635000	0.38103	-0.132000	0.10467	-0.832000	0.04251	-1.020000	0.02445	GTC	.	.	weak		0.532	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		A	72923357	G	A	72923357	3	1	14	1	0	0	0	0	1	0	0	0	11306	1145	40	1	500	1	OTOP2	17	72923357	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6474285	72923357	8271853	249	3576										
ARHGAP28	79822	hgsc.bcm.edu	37	chr18	6882194	6882194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	taaatttaaatgggacaaaaTgtgccatagagaagctgcag	10	5	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr18:6882194T>A	ENST00000383472.4	+	11	1453	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.M291K|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.M291K|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.M450K|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.M286K|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.M291K|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.M398K|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.M273K			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	450	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGGGACAAAATGTGCCATAGA	0.383																																					p.M291K		Atlas-SNP	.											.	ARHGAP28	181	.	0			c.T872A						PASS	.						174	167	169					18																	6882194		2203	4300	6503	SO:0001583	missense	79822	exon10			ACAAAATGTGCCA	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1349T>A	18.37:g.6882194T>A	ENSP00000372964:p.Met450Lys	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	101	83	0.821782	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	T	25.4	4.633106	0.87660	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.048511	0.85682	D	0.000000	T	0.42063	0.1186	N	0.22421	0.69	0.44409	D	0.997329	P;P;P;B	0.49961	0.93;0.8;0.762;0.239	P;P;P;B	0.50270	0.631;0.636;0.503;0.249	T	0.42032	-0.9475	10	0.72032	D	0.01	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	450;282;291;398	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	K	450;398;291;286;291;291;282;273	ENSP00000382963:M450K;ENSP00000262227:M398K;ENSP00000392660:M291K;ENSP00000437262:M286K;ENSP00000313506:M291K;ENSP00000406907:M291K	ENSP00000262227:M398K	M	+	2	0	ARHGAP28	6872194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	ATG	.	.	none		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		A	6882194	T	A	6882194	3	1	14	1	0	0	0	0	1	0	0	0	877	1464	51	5	906	5	ARHGAP28	18	6882194	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10		6882194	71195054	250	3577										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542916	14542916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagaagtgcccacgttgctcGtgccgctccccctgcagcag	11	17	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr18:14542916G>T	ENST00000358970.5	-	1	229	c.230C>A	c.(229-231)aCg>aAg	p.T77K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACGTTGCTCGTGCCGCTCCC	0.577																																					p.T77K		Atlas-SNP	.											POTEC,NS,carcinoma,+1,1	POTEC	129	1	0			c.C230A						scavenged	.						42	51	48					18																	14542916		692	1591	2283	SO:0001583	missense	388468	exon1			TTGCTCGTGCCGC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.230C>A	18.37:g.14542916G>T	ENSP00000351856:p.Thr77Lys	Somatic	413	4	0.00968523		WXS	Illumina HiSeq	Phase_I	423	10	0.0236407	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.707401	0.00096	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22743	1.94	0.429	-0.857	0.10693	.	.	.	.	.	T	0.03827	0.0108	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	0.02654	T	1	.	.	.	.	.	77	B2RU33	POTEC_HUMAN	K	77	ENSP00000351856:T77K	ENSP00000351856:T77K	T	-	2	0	POTEC	14532916	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.710000	0.01888	-2.489000	0.00518	-1.883000	0.00544	ACG	G|1.000;|0.000	.	weak		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14542916	G	T	14542916	3	4	14	1	0	0	0	0	1	0	0	0	12262	1145	40	4	1442	4	POTEC	18	14542916	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	7660722	14542916	63534332	251	3578										
CTAGE1	64693	hgsc.bcm.edu	37	chr18	19996983	19996983	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcttccgattcactgttcatTtctaattccaagttatcatc	3	11	5	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr18:19996983T>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.E264E			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CACTGTTCATTTCTAATTCCA	0.368																																					p.E264E		Atlas-SNP	.											CTAGE1_ENST00000391403,NS,carcinoma,-2,2	CTAGE1	146	2	0			c.A792G						scavenged	.						110	110	110					18																	19996983		2202	4300	6502	SO:0001631	upstream_gene_variant	64693	exon1			GTTCATTTCTAAT	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996983T>C	Exception_encountered	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	242	4	0.0165289	NM_172241	B0YIZ3	Silent	SNP	ENST00000525417.1	37																																																																																				.	.	none		0.368	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		C	19996983	T	C	19996983	1	2	14	0	1	0	0	0	0	0	0	0	3992	1838	64	2		2	CTAGE1	18	19996983	5'Flank	SNP	T	TCGA-FF-8047-01A-11D-2210-10	5454067	19996983	58080265	252	3579										
DSG3	1830	hgsc.bcm.edu	37	chr18	29045363	29045363	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aatttgtcaaaaatatgaacCgagattctactttcatagtt	5	6	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr18:29045363C>T	ENST00000257189.4	+	10	1437	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATATGAACCGAGATTCTAC	0.318																																					p.R452X		Atlas-SNP	.											DSG3,NS,carcinoma,-1,1	DSG3	172	1	0			c.C1354T						scavenged	.						71	77	75					18																	29045363		2203	4300	6503	SO:0001587	stop_gained	1830	exon10			ATGAACCGAGATT	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1354C>T	18.37:g.29045363C>T	ENSP00000257189:p.Arg452*	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_001944	A8K2V2	Nonsense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689264	0.96784	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.82	3.94	0.45596	.	0.160258	0.27956	N	0.017164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9596	0.19293	0.1491:0.6608:0.0:0.1901	.	.	.	.	X	452	.	ENSP00000257189:R452X	R	+	1	2	DSG3	27299361	0.001000	0.12720	0.554000	0.28268	0.661000	0.39034	0.183000	0.16919	1.465000	0.48006	0.467000	0.42956	CGA	.	.	none		0.318	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29045363	C	T	29045363	4	4	14	1	0	0	0	0	0	1	0	0	4778	644	23	1	1392	1	DSG3	18	29045363	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9048380	29045363	49031885	253	3580										
ONECUT2	9480	hgsc.bcm.edu	37	chr18	55103350	55103350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	caccacgccatgagcatgtcCtgcgactcgtctccgcctgg	10	17	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr18:55103350C>T	ENST00000491143.2	+	1	434	c.402C>T	c.(400-402)tcC>tcT	p.S134S	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	134					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGAGCATGTCCTGCGACTCGT	0.662																																					p.S134S		Atlas-SNP	.											.	ONECUT2	42	.	0			c.C402T						PASS	.						41	46	44					18																	55103350		2203	4300	6503	SO:0001819	synonymous_variant	9480	exon1			CATGTCCTGCGAC	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.402C>T	18.37:g.55103350C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	25	9	0.36	NM_004852		Silent	SNP	ENST00000491143.2	37	CCDS42440.1																																																																																			.	.	none		0.662	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			T	55103350	C	T	55103350	2	4	14	1	0	0	0	0	0	0	0	1	10869	668	24	2		2	ONECUT2	18	55103350	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	26057987	55103350	22973898	254	3581										
ABCA7	10347	hgsc.bcm.edu	37	chr19	1049321	1049321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcgtctccgttcgcagcctgGagaagcgctttcctggaagc	13	13	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:1049321G>A	ENST00000263094.6	+	18	2668	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	ABCA7_ENST00000435683.2_Missense_Mutation_p.E675K|ABCA7_ENST00000433129.1_Missense_Mutation_p.E813K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	813	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TCGCAGCCTGGAGAAGCGCTT	0.677																																					p.E813K		Atlas-SNP	.											.	ABCA7	174	.	0			c.G2437A						PASS	.						49	57	55					19																	1049321		2202	4296	6498	SO:0001583	missense	10347	exon18			AGCCTGGAGAAGC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2437G>A	19.37:g.1049321G>A	ENSP00000263094:p.Glu813Lys	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	133	6	0.0451128	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222447	0.22457	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	T;T	0.79554	-1.28;-1.28	4.0	2.94	0.34122	ABC transporter-like (1);	.	.	.	.	T	0.56001	0.1956	N	0.03209	-0.39	0.26432	N	0.975921	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.003	T	0.38351	-0.9665	9	0.07813	T	0.8	.	9.7753	0.40614	0.109:0.0:0.891:0.0	.	675;813	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	K	813	ENSP00000263094:E813K;ENSP00000414062:E813K	ENSP00000263094:E813K	E	+	1	0	ABCA7	1000321	1.000000	0.71417	0.995000	0.50966	0.197000	0.23852	5.512000	0.67030	0.777000	0.33496	0.462000	0.41574	GAG	.	.	none		0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1049321	G	A	1049321	3	1	14	1	0	0	0	0	1	0	0	0	37	1175	41	2	2503	2	ABCA7	19	1049321	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		1049321	58079662	255	3582										
ZNF555	148254	hgsc.bcm.edu	37	chr19	2852470	2852470	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcttaatctgtacaagaaaaTtccacctggagtaaaacagt	6	8	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:2852470T>A	ENST00000334241.4	+	4	545	c.407T>A	c.(406-408)aTt>aAt	p.I136N	ZNF555_ENST00000591539.1_Missense_Mutation_p.I135N|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TACAAGAAAATTCCACCTGGA	0.428																																					p.I136N		Atlas-SNP	.											.	ZNF555	61	.	0			c.T407A						PASS	.						85	82	83					19																	2852470		2203	4300	6503	SO:0001583	missense	148254	exon4			AGAAAATTCCACC	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.407T>A	19.37:g.2852470T>A	ENSP00000334853:p.Ile136Asn	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	74	30	0.405405	NM_152791	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.302445	0.23736	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.06933	3.24	3.62	-0.788	0.10939	.	.	.	.	.	T	0.08447	0.0210	M	0.64260	1.97	0.09310	N	1	B;B	0.23650	0.001;0.089	B;B	0.16289	0.001;0.015	T	0.32640	-0.9899	9	0.66056	D	0.02	.	3.7148	0.08434	0.0:0.4382:0.1968:0.3651	.	136;135	Q8NEP9;A8KA89	ZN555_HUMAN;.	N	136;135	ENSP00000334853:I136N	ENSP00000334853:I136N	I	+	2	0	ZNF555	2803470	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.427000	0.06999	-0.198000	0.10333	0.459000	0.35465	ATT	.	.	none		0.428	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		A	2852470	T	A	2852470	3	1	14	1	0	0	0	0	1	0	0	0	17983	1493	52	5	421	5	ZNF555	19	2852470	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	1803149	2852470	56276513	256	3583										
C19orf29	58509	hgsc.bcm.edu	37	chr19	3612193	3612193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccctgcacgatcttgggcgGtgggttgtcaaagtcgtagt	14	9	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:3612193G>A	ENST00000429344.2	-	10	2057	c.2005C>T	c.(2005-2007)Ccg>Tcg	p.P669S	CACTIN_ENST00000248420.5_Missense_Mutation_p.P669S|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.P601S	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	669					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ATCTTGGGCGGTGGGTTGTCA	0.587																																					p.P669S		Atlas-SNP	.											.	.	.	.	0			c.C2005T						PASS	.						139	156	150					19																	3612193		2166	4255	6421	SO:0001583	missense	58509	exon10			TGGGCGGTGGGTT	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2005C>T	19.37:g.3612193G>A	ENSP00000415078:p.Pro669Ser	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	222	107	0.481982	NM_021231	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393353	0.42410	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.2	2.06	0.26882	Cactin protein, cactus-binding domain, C-terminal (1);	0.120124	0.56097	D	0.000023	T	0.80226	0.4584	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80841	-0.1202	9	0.87932	D	0	.	9.1523	0.36971	0.1829:0.0:0.8171:0.0	.	669;669	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	S	669;669;601	.	ENSP00000221899:P601S	P	-	1	0	C19orf29	3563193	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	9.150000	0.94667	0.539000	0.28788	-0.148000	0.13756	CCG	.	.	none		0.587	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			A	3612193	G	A	3612193	3	1	14	1	0	0	0	0	1	0	0	0	1918	1261	44	2	275	2	C19orf29	19	3612193	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	759723	3612193	55516790	257	3584										
RGL3	57139	hgsc.bcm.edu	37	chr19	11529920	11529920	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cggggatcccttgtccccttAccagggccagctctttgcct	10	16	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:11529920A>G	ENST00000380456.3	-	1	97		c.e1+1		RGL3_ENST00000393423.3_Splice_Site	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3						small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TTGTCCCCTTACCAGGGCCAG	0.697																																					.	GBM(174;751 2067 17998 27979 33959)	Atlas-SNP	.											.	RGL3	100	.	0			c.33+2T>C						PASS	.						60	74	69					19																	11529920		2203	4300	6503	SO:0001630	splice_region_variant	57139	exon2			CCCCTTACCAGGG	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.33+1T>C	19.37:g.11529920A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	98	5	0.0510204	NM_001161616	B5ME84|B7ZL22|Q0P6G0	Splice_Site	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961190	0.53400	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	.	.	.	4.22	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2496	0.26142	0.7737:0.2263:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGL3	11390920	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.747000	0.38298	1.694000	0.51137	0.254000	0.18369	.	.	.	none		0.697	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867	Intron	G	11529920	A	G	11529920	5	3	14	1	0	0	0	0	0	0	1	0	13278	405	14	2	2191	2	RGL3	19	11529920	Splice_Site	SNP	A	TCGA-FF-8047-01A-11D-2210-10	7917727	11529920	47599063	258	3585										
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	22	1	0	5	rs77563879		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E		Atlas-SNP	.											PRKCSH,caecum,carcinoma,0,1	PRKCSH	55	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A						scavenged	.						27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A		Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_001001329	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.	.	weak		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	14	1	0	0	0	0	0	0	0	1	12516	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	28450	11558370	47570613	259	3586										
CCDC130	81576	hgsc.bcm.edu	37	chr19	13873535	13873535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggcacagagccgcagaaccGcgcttgccacctcccccatc	9	19	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:13873535G>A	ENST00000586600.1	+	11	1347	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.A282T|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	282					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCGCAGAACCGCGCTTGCCAC	0.697																																					p.A282T		Atlas-SNP	.											CCDC130,NS,carcinoma,-1,1	CCDC130	25	1	0			c.G844A						PASS	.						21	21	21					19																	13873535		2202	4300	6502	SO:0001583	missense	81576	exon10			AGAACCGCGCTTG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.844G>A	19.37:g.13873535G>A	ENSP00000465776:p.Ala282Thr	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	38	14	0.368421	NM_030818	Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023846	0.35701	.	.	ENSG00000104957	ENST00000221554	T	0.31510	1.49	5.23	-3.93	0.04143	.	0.706623	0.13770	N	0.363927	T	0.14743	0.0356	L	0.31926	0.97	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.18967	-1.0320	10	0.24483	T	0.36	-24.402	2.0876	0.03650	0.4101:0.1249:0.3384:0.1265	.	282;282	B3KUZ1;P13994	.;CC130_HUMAN	T	282	ENSP00000221554:A282T	ENSP00000221554:A282T	A	+	1	0	CCDC130	13734535	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.701000	0.05075	-0.174000	0.10743	0.561000	0.74099	GCG	.	.	none		0.697	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		A	13873535	G	A	13873535	3	1	14	1	0	0	0	0	1	0	0	0	2766	1087	38	1	878	1	CCDC130	19	13873535	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2315165	13873535	45255448	260	3587										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002404	36002404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cactgctgccgccactgctgCtgccactgctgctgccacca	9	19	0	0	rs56743379|rs138902616		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:36002404C>T	ENST00000339686.3	-	5	1003	c.827G>A	c.(826-828)aGc>aAc	p.S276N	DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S276N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S276N|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S276N|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S276N|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S276N|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	276	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gccactgctgctgccactgct	0.647																																					p.S276N		Atlas-SNP	.											DMKN,NS,carcinoma,0,2	DMKN	116	2	1	Deletion - In frame(1)	ovary(1)	c.G827A						scavenged	.						28	21	23					19																	36002404		2176	4255	6431	SO:0001583	missense	93099	exon5			CTGCTGCTGCCAC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.827G>A	19.37:g.36002404C>T	ENSP00000342012:p.Ser276Asn	Somatic	24	13	0.541667		WXS	Illumina HiSeq	Phase_I	36	17	0.472222	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635437	0.14322	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	3.2	-1.74	0.08056	.	0.904855	0.09337	N	0.815985	T	0.30696	0.0773	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003	T	0.32241	-0.9914	10	0.16896	T	0.51	5.0393	8.4003	0.32581	0.0:0.7659:0.0:0.2341	.	276;276;276;276;276	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	276	ENSP00000342012:S276N;ENSP00000394908:S276N;ENSP00000415277:S276N;ENSP00000414743:S276N;ENSP00000388404:S276N;ENSP00000409513:S276N	ENSP00000342012:S276N	S	-	2	0	DMKN	40694244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.213000	0.09305	-0.013000	0.14199	-1.984000	0.00453	AGC	.	.	weak		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002404	C	T	36002404	3	4	14	1	0	0	0	0	1	0	0	0	4582	797	28	2	968	2	DMKN	19	36002404	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	22128869	36002404	23126579	261	3588										
RBM42	79171	hgsc.bcm.edu	37	chr19	36124108	36124108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gctgccaccaatggctcgggCtccagggcccccgctgggct	14	17	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:36124108C>T	ENST00000262633.4	+	6	743	c.638C>T	c.(637-639)gCt>gTt	p.A213V	RBM42_ENST00000588161.1_Missense_Mutation_p.A183V|RBM42_ENST00000589559.1_Missense_Mutation_p.A184V|RBM42_ENST00000360475.4_Missense_Mutation_p.A184V|RBM42_ENST00000592202.1_Missense_Mutation_p.A159V|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.A191V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	213	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGCTCGGGCTCCAGGGCCC	0.697																																					p.A213V		Atlas-SNP	.											.	RBM42	40	.	0			c.C638T						PASS	.						38	49	45					19																	36124108		2196	4291	6487	SO:0001583	missense	79171	exon6			CTCGGGCTCCAGG	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.638C>T	19.37:g.36124108C>T	ENSP00000262633:p.Ala213Val	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	32	4	0.125	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576124	0.65878	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06449	3.3;3.34	5.05	5.05	0.67936	.	0.180852	0.47455	D	0.000236	T	0.11537	0.0281	N	0.14661	0.345	0.29843	N	0.829062	D;D;D;D	0.60575	0.988;0.988;0.988;0.98	D;D;D;D	0.70935	0.971;0.971;0.971;0.935	T	0.03555	-1.1025	10	0.48119	T	0.1	-7.1616	13.7681	0.63008	0.0:1.0:0.0:0.0	.	179;184;183;213	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	V	213;184	ENSP00000262633:A213V;ENSP00000353663:A184V	ENSP00000262633:A213V	A	+	2	0	RBM42	40815948	0.988000	0.35896	1.000000	0.80357	0.968000	0.65278	2.033000	0.41136	2.628000	0.89032	0.561000	0.74099	GCT	.	.	none		0.697	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		T	36124108	C	T	36124108	3	4	14	1	0	0	0	0	1	0	0	0	13136	797	28	2	660	2	RBM42	19	36124108	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	121704	36124108	23004875	262	3589										
SUPT5H	6829	hgsc.bcm.edu	37	chr19	39964876	39964876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tctctcctgtctctgcaggtAcaacacagaccagttctctc	6	15	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:39964876A>G	ENST00000599117.1	+	28	3021	c.2654A>G	c.(2653-2655)tAc>tGc	p.Y885C	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Y885C|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Y885C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Y881C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Y881C			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	885	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGCAGGTACAACACAGAC	0.627											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y885C		Atlas-SNP	.											SUPT5H,NS,carcinoma,+1,1	SUPT5H	119	1	0			c.A2654G						scavenged	.						140	140	140					19																	39964876		2203	4300	6503	SO:0001583	missense	6829	exon26			GCAGGTACAACAC	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2654A>G	19.37:g.39964876A>G	ENSP00000470252:p.Tyr885Cys	Somatic	181	0	0	889	WXS	Illumina HiSeq	Phase_I	202	3	0.0148515	NM_003169	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703162	0.68501	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.36672	1.1	0.80722	D	1	D;D;P	0.71674	0.998;0.964;0.939	P;P;P	0.59288	0.855;0.819;0.664	T	0.59815	-0.7383	8	.	.	.	-16.7403	13.5134	0.61526	1.0:0.0:0.0:0.0	.	677;881;885	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	C	885;881;863;885	.	.	Y	+	2	0	SUPT5H	44656716	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.865000	0.92300	2.034000	0.60081	0.379000	0.24179	TAC	.	.	none		0.627	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		G	39964876	A	G	39964876	3	3	14	1	0	0	0	0	1	0	0	0	15396	391	14	2	2756	2	SUPT5H	19	39964876	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	3840768	39964876	19164107	263	3590										
CYP2A6	1548	hgsc.bcm.edu	37	chr19	41355765	41355765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gaaggtggcttgctcgcctcGcccgctgaactcctcagcct	11	16	1	1	rs199545200		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:41355765G>A	ENST00000301141.5	-	2	321	c.301C>T	c.(301-303)Cga>Tga	p.R101*	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	101					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGCTCGCCTCGCCCGCTGAAC	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		18422	0.001		0.0	False		,,,				2504	0.0				p.R101X		Atlas-SNP	.											CYP2A6,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	CYP2A6	69	1	0			c.C301T	GRCh37	CM057912	CYP2A6	M		scavenged	.						68	65	66					19																	41355765		2203	4297	6500	SO:0001587	stop_gained	1548	exon2			CGCCTCGCCCGCT	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.301C>T	19.37:g.41355765G>A	ENSP00000301141:p.Arg101*	Somatic	361	7	0.0193906		WXS	Illumina HiSeq	Phase_I	388	10	0.0257732	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Nonsense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	20.8	4.055138	0.75960	.	.	ENSG00000255974	ENST00000301141	.	.	.	2.72	1.61	0.23674	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0179	0.30391	0.0:0.0:0.396:0.604	.	.	.	.	X	101	.	ENSP00000301141:R101X	R	-	1	2	CYP2A6	46047605	0.004000	0.15560	0.122000	0.21767	0.368000	0.29767	-0.012000	0.12699	0.289000	0.22422	0.185000	0.17295	CGA	G|1.000;A|0.000	0.000	strong		0.632	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		A	41355765	G	A	41355765	4	1	14	1	0	0	0	0	0	1	0	0	4162	1095	38	1	1215	1	CYP2A6	19	41355765	Nonsense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1390889	41355765	17773218	264	3591										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41633809	41633809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tcctgccacccctgcagggcGccgtctgtgcctgggagagt	14	15	1	1	rs139951793	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:41633809G>A	ENST00000331105.2	+	10	1370	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	433					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGCAGGGCGCCGTCTGTGC	0.612																																					p.R433H		Atlas-SNP	.											CYP2F1,NS,lymphoid_neoplasm,0,2	CYP2F1	60	2	0			c.G1298A						scavenged	.						14	16	15					19																	41633809		2197	4288	6485	SO:0001583	missense	1572	exon10			CAGGGCGCCGTCT	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1298G>A	19.37:g.41633809G>A	ENSP00000333534:p.Arg433His	Somatic	225	24	0.106667		WXS	Illumina HiSeq	Phase_I	197	16	0.0812183	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941510	0.34283	.	.	ENSG00000197446	ENST00000331105	T	0.70631	-0.5	3.1	2.05	0.26809	Cytochrome P450, conserved site (1);	0.176601	0.41194	U	0.000921	T	0.56202	0.1969	L	0.58510	1.815	0.09310	N	1	P	0.40515	0.719	B	0.29862	0.108	T	0.55661	-0.8106	10	0.87932	D	0	.	5.1896	0.15203	0.2785:0.0:0.7215:0.0	.	433	P24903	CP2F1_HUMAN	H	433	ENSP00000333534:R433H	ENSP00000333534:R433H	R	+	2	0	CYP2F1	46325649	0.000000	0.05858	0.010000	0.14722	0.328000	0.28507	0.452000	0.21795	0.529000	0.28599	0.089000	0.15464	CGC	G|0.994;A|0.006	0.006	strong		0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41633809	G	A	41633809	3	1	14	1	0	0	0	0	1	0	0	0	4171	1087	38	1	1332	1	CYP2F1	19	41633809	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	278044	41633809	17495174	265	3592										
BCL3	602	hgsc.bcm.edu	37	chr19	45261657	45261657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgacacgccgctcatggtggCgcgcagccgcagggtgagcc	16	15	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:45261657C>T	ENST00000164227.5	+	7	1290	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	349					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCATGGTGGCGCGCAGCCGC	0.711			T	IGH@	CLL																																p.A349V		Atlas-SNP	.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	BCL3	28	.	0			c.C1046T						PASS	.						6	5	6					19																	45261657		1987	3872	5859	SO:0001583	missense	602	exon7			TGGTGGCGCGCAG	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1046C>T	19.37:g.45261657C>T	ENSP00000164227:p.Ala349Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_005178		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	33	5.265975	0.95399	.	.	ENSG00000069399	ENST00000403534;ENST00000164227	T	0.62364	0.03	4.88	4.88	0.63580	Ankyrin repeat-containing domain (3);	0.409242	0.20420	N	0.092683	T	0.67711	0.2922	M	0.62209	1.925	0.45648	D	0.998571	D	0.89917	1.0	P	0.49332	0.607	T	0.73065	-0.4100	10	0.72032	D	0.01	-29.5782	15.5034	0.75719	0.0:1.0:0.0:0.0	.	349	P20749	BCL3_HUMAN	V	309;349	ENSP00000164227:A349V	ENSP00000164227:A349V	A	+	2	0	BCL3	49953497	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.532000	0.53553	2.257000	0.74773	0.491000	0.48974	GCG	.	.	none		0.711	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45261657	C	T	45261657	3	4	14	1	0	0	0	0	1	0	0	0	1375	768	27	1	1072	1	BCL3	19	45261657	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	3627848	45261657	13867326	266	3593										
PRKD2	25865	hgsc.bcm.edu	37	chr19	47207494	47207494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aagcctggcaaacggtgggcCgtgtatagctgtggatgagg	17	7	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:47207494C>T	ENST00000291281.4	-	5	1046	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	PRKD2_ENST00000601806.1_Missense_Mutation_p.R117Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.R117Q|PRKD2_ENST00000433867.1_Missense_Mutation_p.R274Q|PRKD2_ENST00000595515.1_Missense_Mutation_p.R274Q			Q9BZL6	KPCD2_HUMAN	protein kinase D2	274					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R274Q(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AACGGTGGGCCGTGTATAGCT	0.592											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R274Q		Atlas-SNP	.											PRKD2,NS,carcinoma,0,1	PRKD2	94	1	1	Substitution - Missense(1)	lung(1)	c.G821A						scavenged	.						149	135	140					19																	47207494		2203	4300	6503	SO:0001583	missense	25865	exon5			GTGGGCCGTGTAT	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.821G>A	19.37:g.47207494C>T	ENSP00000291281:p.Arg274Gln	Somatic	240	2	0.00833333	945	WXS	Illumina HiSeq	Phase_I	240	3	0.0125	NM_016457	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405082	0.96051	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.92249	-3.0;-3.0	5.18	5.18	0.71444	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.178892	0.35936	N	0.002885	D	0.93226	0.7842	L	0.37897	1.145	0.52099	D	0.99994	D;D	0.65815	0.991;0.995	P;P	0.62491	0.861;0.903	D	0.93113	0.6518	10	0.46703	T	0.11	-45.0909	17.8348	0.88693	0.0:1.0:0.0:0.0	.	274;274	E7ER94;Q9BZL6	.;KPCD2_HUMAN	Q	274	ENSP00000291281:R274Q;ENSP00000393978:R274Q	ENSP00000291281:R274Q	R	-	2	0	PRKD2	51899334	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	7.426000	0.80270	2.579000	0.87056	0.448000	0.29417	CGG	.	.	none		0.592	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		T	47207494	C	T	47207494	3	4	14	1	0	0	0	0	1	0	0	0	12519	652	23	1	1871	1	PRKD2	19	47207494	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	1945837	47207494	11921489	267	3594										
AP2S1	1175	hgsc.bcm.edu	37	chr19	47342811	47342811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtagaggccagcatagcggcGgtaaatgatcttaaagttcc	12	8	1	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:47342811G>T	ENST00000263270.6	-	3	403	c.178C>A	c.(178-180)Cgc>Agc	p.R60S	AP2S1_ENST00000597020.1_Missense_Mutation_p.R40S|AP2S1_ENST00000601498.1_Missense_Mutation_p.R76S|AP2S1_ENST00000352203.4_Missense_Mutation_p.R74S|AP2S1_ENST00000599990.1_Missense_Mutation_p.R62S|AP2S1_ENST00000601649.1_Intron|AP2S1_ENST00000593442.1_Missense_Mutation_p.R10S	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|clathrin coat assembly (GO:0048268)|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)|regulation of endocytosis (GO:0030100)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GCATAGCGGCGGTAAATGATC	0.527																																					p.R60S		Atlas-SNP	.											AP2S1,NS,lymphoid_neoplasm,+1,1	AP2S1	12	1	0			c.C178A						scavenged	.						138	123	128					19																	47342811		2203	4300	6503	SO:0001583	missense	1175	exon3			AGCGGCGGTAAAT	AJ010148	CCDS12693.1, CCDS33062.1	19q13.2-q13.3	2014-02-04				ENSG00000042753			565	protein-coding gene	gene with protein product		602242	"hypocalciuric hypercalcemia 3 (Oklahoma type)"	CLAPS2, HHC3		9040778, 9767099, 23222959	Standard	XM_005258500		Approved	FBHOk, FBH3	uc002pft.1	P53680		ENST00000263270.6:c.178C>A	19.37:g.47342811G>T	ENSP00000263270:p.Arg60Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	96	3	0.03125	NM_004069	B2R4Z4|O75977|Q6PK67	Missense_Mutation	SNP	ENST00000263270.6	37	CCDS33062.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895791	0.72639	.	.	ENSG00000042753	ENST00000263270	.	.	.	4.94	1.57	0.23409	Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78929	-0.2010	9	0.87932	D	0	.	6.2344	0.20754	0.1646:0.0:0.6849:0.1505	.	60	P53680	AP2S1_HUMAN	S	60	.	ENSP00000263270:R60S	R	-	1	0	AP2S1	52034651	1.000000	0.71417	0.902000	0.35471	0.865000	0.49528	4.741000	0.62095	0.245000	0.21373	0.460000	0.39030	CGC	.	.	none		0.527	AP2S1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466643.1			T	47342811	G	T	47342811	3	4	14	1	0	0	0	0	1	0	0	0	743	1116	39	4	262	4	AP2S1	19	47342811	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	135317	47342811	11786172	268	3595										
ZNF665	79788	hgsc.bcm.edu	37	chr19	53668754	53668754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gatgggtagtcaggcttgagCgaacactaaaggctttgcca	13	8	1	1	rs374379778		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:53668754C>T	ENST00000600412.1	-	2	909	c.794G>A	c.(793-795)cGc>cAc	p.R265H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R330H|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R330L(1)|p.R265L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CAGGCTTGAGCGAACACTAAA	0.428																																					p.R330H		Atlas-SNP	.											ZNF665,rectum,carcinoma,-1,2	ZNF665	136	2	2	Substitution - Missense(2)	lung(2)	c.G989A						scavenged	.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	124	122		989	-4.5	0	19		122	0,8598		0,0,4299	no	missense	ZNF665	NM_024733.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	330/679	53668754	1,13003	2203	4299	6502	SO:0001583	missense	79788	exon4			CTTGAGCGAACAC		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.794G>A	19.37:g.53668754C>T	ENSP00000469154:p.Arg265His	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	2	0.0238095	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	3.735	-0.054780	0.07362	2.27E-4	0.0	ENSG00000197497	ENST00000396424	T	0.01015	5.44	2.26	-4.52	0.03472	.	.	.	.	.	T	0.00552	0.0018	N	0.12527	0.23	0.09310	N	1	B	0.23990	0.095	B	0.16722	0.016	T	0.45220	-0.9276	9	0.14252	T	0.57	.	5.1546	0.15029	0.1381:0.3683:0.0:0.4936	.	330	Q9H7R5-2	.	H	330	ENSP00000379702:R330H	ENSP00000379702:R330H	R	-	2	0	ZNF665	58360566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.991000	0.00162	-1.719000	0.01382	-0.436000	0.05848	CGC	.	.	weak		0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		T	53668754	C	T	53668754	3	4	14	1	0	0	0	0	1	0	0	0	18070	768	27	1	1051	1	ZNF665	19	53668754	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	6325943	53668754	5460229	269	3596										
SLC27A5	10998	hgsc.bcm.edu	37	chr19	59010920	59010920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttcgcggtccatggccagtaCgtccccggtgttgtagtaaa	12	11	0	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr19:59010920C>T	ENST00000263093.2	-	7	1715	c.1606G>A	c.(1606-1608)Gta>Ata	p.V536I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.V452I|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	536					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATGGCCAGTACGTCCCCGGTG	0.687																																					p.V536I		Atlas-SNP	.											.	SLC27A5	58	.	0			c.G1606A						PASS	.						85	78	81					19																	59010920		2203	4300	6503	SO:0001583	missense	10998	exon7			CCAGTACGTCCCC	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1606G>A	19.37:g.59010920C>T	ENSP00000263093:p.Val536Ile	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	76	28	0.368421	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470540	0.63625	.	.	ENSG00000083807	ENST00000263093	T	0.37915	1.17	5.26	-0.904	0.10530	AMP-dependent synthetase/ligase (1);	0.216318	0.39985	N	0.001207	T	0.19886	0.0478	L	0.35414	1.06	0.26467	N	0.975346	B	0.20780	0.048	B	0.20767	0.031	T	0.10154	-1.0642	10	0.56958	D	0.05	-17.5506	1.7058	0.02881	0.1539:0.3661:0.2999:0.1802	.	536	Q9Y2P5	S27A5_HUMAN	I	536	ENSP00000263093:V536I	ENSP00000263093:V536I	V	-	1	0	SLC27A5	63702732	0.996000	0.38824	0.016000	0.15963	0.983000	0.72400	0.379000	0.20585	0.312000	0.23038	0.462000	0.41574	GTA	.	.	none		0.687	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		T	59010920	C	T	59010920	3	4	14	1	0	0	0	0	1	0	0	0	14529	536	19	1	482	1	SLC27A5	19	59010920	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	5342166	59010920	118063	270	3597										
CPXM1	56265	hgsc.bcm.edu	37	chr20	2777704	2777704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	agtctagagggtcagaggatCccgacgcaggggcctcaagg	16	10	3	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr20:2777704C>T	ENST00000380605.2	-	7	933	c.869G>A	c.(868-870)gGa>gAa	p.G290E		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	290					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCAGAGGATCCCGACGCAGG	0.532																																					p.G290E		Atlas-SNP	.											CPXM1,mouth,carcinoma,-1,1	CPXM1	107	1	0			c.G869A						scavenged	.						82	85	84					20																	2777704		2203	4300	6503	SO:0001583	missense	56265	exon7			GAGGATCCCGACG	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.869G>A	20.37:g.2777704C>T	ENSP00000369979:p.Gly290Glu	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	268	3	0.011194	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643416	0.29246	.	.	ENSG00000088882	ENST00000380605	D	0.95205	-3.64	5.24	-0.307	0.12777	.	0.800421	0.11720	N	0.535977	D	0.84197	0.5419	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.002	T	0.70107	-0.4963	10	0.02654	T	1	-0.0351	3.195	0.06630	0.1357:0.3163:0.3962:0.1518	.	290;290	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	E	290	ENSP00000369979:G290E	ENSP00000369979:G290E	G	-	2	0	CPXM1	2725704	0.000000	0.05858	0.012000	0.15200	0.369000	0.29798	-0.610000	0.05629	-0.158000	0.11040	-0.175000	0.13238	GGA	.	.	none		0.532	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2777704	C	T	2777704	3	4	14	1	0	0	0	0	1	0	0	0	3837	855	30	2	1367	2	CPXM1	20	2777704	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		2777704	60247816	271	3598										
ARFGAP1	55738	hgsc.bcm.edu	37	chr20	61907883	61907883	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	aaggacattgagcttgagaaGatgaaagctggtgggaatgc	15	4	0	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr20:61907883G>A	ENST00000370283.4	+	4	362	c.222G>A	c.(220-222)aaG>aaA	p.K74K	ARFGAP1_ENST00000519273.2_De_novo_Start_OutOfFrame|ARFGAP1_ENST00000547204.1_De_novo_Start_InFrame|ARFGAP1_ENST00000519604.1_Silent_p.K21K|ARFGAP1_ENST00000370275.4_Silent_p.K74K|ARFGAP1_ENST00000353546.3_Silent_p.K74K	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	74	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AGCTTGAGAAGATGAAAGCTG	0.527																																					p.K74K		Atlas-SNP	.											.	ARFGAP1	38	.	0			c.G222A						PASS	.						135	111	119					20																	61907883		2203	4300	6503	SO:0001819	synonymous_variant	55738	exon4			TGAGAAGATGAAA	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.222G>A	20.37:g.61907883G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	256	105	0.410156	NM_018209	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	CCDS13515.1																																																																																			.	.	none		0.527	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		A	61907883	G	A	61907883	2	1	14	1	0	0	0	0	0	0	0	1	849	933	33	2		2	ARFGAP1	20	61907883	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	59130179	61907883	1117637	272	3599										
C21orf2	755	hgsc.bcm.edu	37	chr21	45753051	45753051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cagccccttcaggtagaagaGctcagccaggctggggatgc	14	12	2	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr21:45753051G>A	ENST00000339818.4	-	4	445	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000397956.3_Missense_Mutation_p.L80F|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.L80F	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	80					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		AGGTAGAAGAGCTCAGCCAGG	0.677																																					p.L80F		Atlas-SNP	.											.	C21orf2	10	.	0			c.C238T						PASS	.						23	24	24					21																	45753051		2202	4300	6502	SO:0001583	missense	755	exon4			AGAAGAGCTCAGC	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.238C>T	21.37:g.45753051G>A	ENSP00000344566:p.Leu80Phe	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041713	0.93685	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.25085	1.82;1.82;1.82	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;P;D;D	0.97110	0.999;0.908;1.0;0.999	T	0.69483	-0.5133	10	0.54805	T	0.06	-34.0877	15.5737	0.76359	0.0:0.0:1.0:0.0	.	80;80;80;39	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	F	80;116;80;80	ENSP00000344566:L80F;ENSP00000381047:L80F;ENSP00000317302:L80F	ENSP00000317302:L80F	L	-	1	0	C21orf2	44577479	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.037000	0.93765	2.482000	0.83794	0.655000	0.94253	CTC	.	.	none		0.677	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		A	45753051	G	A	45753051	3	1	14	1	0	0	0	0	1	0	0	0	2123	971	34	2	548	2	C21orf2	21	45753051	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10		45753051	2376844	273	3600										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46012354	46012354	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ctggagcagacggacatggtGgacgcggccatgctggggtt	18	9	0	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr21:46012354G>T	ENST00000400368.1	-	1	32	c.12C>A	c.(10-12)tcC>tcA	p.S4S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	4						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CGGACATGGTGGACGCGGCCA	0.632																																					p.S4S		Atlas-SNP	.											KRTAP10-6,NS,carcinoma,-1,2	KRTAP10-6	57	2	0			c.C12A						scavenged	.						71	75	74					21																	46012354		2182	4282	6464	SO:0001819	synonymous_variant	386674	exon1			CATGGTGGACGCG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.12C>A	21.37:g.46012354G>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	241	3	0.0124481	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.632	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		T	46012354	G	T	46012354	2	4	14	1	0	0	0	0	0	0	0	1	8513	1335	47	4		4	KRTAP10-6	21	46012354	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	259303	46012354	2117541	274	3601										
COL6A1	1291	hgsc.bcm.edu	37	chr21	47423737	47423737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gcaggaagcccagcgggcagGcatcgagatcttcgtggtgg	17	10	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr21:47423737G>A	ENST00000361866.3	+	35	3011	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	966	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCGGGCAGGCATCGAGATC	0.672																																					p.G966D		Atlas-SNP	.											.	COL6A1	101	.	0			c.G2897A						PASS	.						39	40	39					21																	47423737		2200	4298	6498	SO:0001583	missense	1291	exon35			GGGCAGGCATCGA	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2897G>A	21.37:g.47423737G>A	ENSP00000355180:p.Gly966Asp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_001848	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544844	0.45280	.	.	ENSG00000142156	ENST00000361866	D	0.82803	-1.65	4.83	2.7	0.31948	von Willebrand factor, type A (3);	0.364959	0.27280	N	0.020091	T	0.81351	0.4804	M	0.78049	2.395	0.54753	D	0.999987	B	0.15473	0.013	B	0.20184	0.028	T	0.77035	-0.2737	10	0.44086	T	0.13	-12.9407	10.1343	0.42697	0.1868:0.0:0.8132:0.0	.	966	P12109	CO6A1_HUMAN	D	966	ENSP00000355180:G966D	ENSP00000355180:G966D	G	+	2	0	COL6A1	46248165	0.968000	0.33430	0.912000	0.35992	0.308000	0.27856	1.709000	0.37909	0.771000	0.33359	0.596000	0.82720	GGC	.	.	none		0.672	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47423737	G	A	47423737	3	1	14	1	0	0	0	0	1	0	0	0	3699	1203	42	2	3035	2	COL6A1	21	47423737	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	1411383	47423737	706158	275	3602										
USP18	11274	hgsc.bcm.edu	37	chr22	18650682	18650682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagactgcaggccctgtataCgatccgggtgaaggactcct	13	11	0	2	rs3180408	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:18650682C>T	ENST00000215794.7	+	6	936	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	169	USP.		T -> M (in dbSNP:rs3180408). {ECO:0000269|Ref.7}.		cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.T169M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GCCCTGTATACGATCCGGGTG	0.547													c|||	1489	0.297324	0.3979	0.2997	5008	,	,		16115	0.1637		0.3072	False		,,,				2504	0.2873				p.T169M		Atlas-SNP	.											USP18,NS,carcinoma,0,1	USP18	22	1	1	Substitution - Missense(1)	stomach(1)	c.C506T						scavenged	.	C	MET/THR	1709,2697		320,1069,814	121	94	103		506	-3.1	0	22	dbSNP_105	103	2965,5635		496,1973,1831	no	missense	USP18	NM_017414.3	81	816,3042,2645	TT,TC,CC		34.4767,38.788,35.9373	benign	169/373	18650682	4674,8332	2203	4300	6503	SO:0001583	missense	11274	exon6			TGTATACGATCCG	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.506C>T	22.37:g.18650682C>T	ENSP00000215794:p.Thr169Met	Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	254	3	0.011811	NM_017414	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	614	0.28113553113553114	173	0.3516260162601626	107	0.2955801104972376	92	0.16083916083916083	242	0.31926121372031663	.	2.520	-0.311064	0.05458	0.38788	0.344767	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.31769	1.48	5.62	-3.07	0.05363	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.540147	0.20380	N	0.093467	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	P	0.36789	0.57	B	0.33521	0.165	T	0.40270	-0.9572	9	0.46703	T	0.11	.	7.1474	0.25591	0.0:0.5396:0.1135:0.347	rs3180408;rs3210451;rs3180408	169	Q9UMW8	UBP18_HUMAN	M	169;1	ENSP00000215794:T169M	ENSP00000215794:T169M	T	+	2	0	USP18	17030682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.076000	0.11412	-0.757000	0.04697	-1.789000	0.00628	ACG	C|0.674;N|0.000	.	strong		0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			T	18650682	C	T	18650682	3	4	14	1	0	0	0	0	1	0	0	0	17046	536	19	1	524	1	USP18	22	18650682	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10		18650682	32653884	276	3603										
RIMBP3	85376	hgsc.bcm.edu	37	chr22	20457413	20457413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gactgaaggtggcctgtggtTctggggactcttctgaaaga	15	7	3	3			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:20457413T>C	ENST00000426804.1	-	1	4373	c.3889A>G	c.(3889-3891)Aac>Gac	p.N1297D	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1297										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCCTGTGGTTCTGGGGACTC	0.577																																					p.N1297D		Atlas-SNP	.											RIMBP3,NS,carcinoma,+1,1	RIMBP3	42	1	0			c.A3889G						scavenged	.						6	8	8					22																	20457413		871	2418	3289	SO:0001583	missense	85376	exon1			TGTGGTTCTGGGG	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3889A>G	22.37:g.20457413T>C	ENSP00000391564:p.Asn1297Asp	Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	271	2	0.00738007	NM_015672	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	T	5.571	0.290189	0.10567	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.19938	2.11	3.18	-2.83	0.05769	.	1.204890	0.05804	N	0.612853	T	0.12732	0.0309	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33317	-0.9873	10	0.14656	T	0.56	-2.6787	4.4824	0.11773	0.0:0.4004:0.1839:0.4157	.	1203	Q9UFD9	RIM3A_HUMAN	D	1203;1297	ENSP00000391564:N1297D	ENSP00000347318:N1203D	N	-	1	0	RIMBP3	18837413	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.047000	0.11963	-0.825000	0.04290	-3.743000	0.00022	AAC	.	.	none		0.577	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		C	20457413	T	C	20457413	3	2	14	1	0	0	0	0	1	0	0	0	13364	1783	62	2	1034	2	RIMBP3	22	20457413	Missense_Mutation	SNP	T	TCGA-FF-8047-01A-11D-2210-10	1806731	20457413	30847153	277	3604										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230278	23230278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ggttgtgagacccctgaggaGctgggccctggtcccaggca	16	12	0	2	rs544778929	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:23230278G>A	ENST00000526893.1	+	1	319	c.45G>A	c.(43-45)gaG>gaA	p.E15E	IGLL5_ENST00000531372.1_Silent_p.E15E|IGLL5_ENST00000532223.2_Silent_p.E15E|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	15						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCCTGAGGAGCTGGGCCCTG	0.672													G|||	6	0.00119808	0.0023	0.0029	5008	,	,		13267	0.0		0.0	False		,,,				2504	0.001				p.E15E		Atlas-SNP	.											IGLL5,NS,lymphoid_neoplasm,0,1	IGLL5	26	1	0			c.G45A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			TGAGGAGCTGGGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.45G>A	22.37:g.23230278G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	75	65	0.866667	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230278	G	A	23230278	2	1	14	1	0	0	0	0	0	0	0	1	7594	962	34	2		2	IGLL5	22	23230278	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	2772865	23230278	28074288	278	3605										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230371	23230371	+	Missense_Mutation	SNP	A	A	T													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cgcccaatggttgcaccgcaAagcggggacccagaccctgg					rs554492007	byFrequency	TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:23230371A>T	ENST00000526893.1	+	1	412	c.138A>T	c.(136-138)caA>caT	p.Q46H	IGLL5_ENST00000531372.1_Missense_Mutation_p.Q46H|IGLL5_ENST00000532223.2_Missense_Mutation_p.Q46H|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	46						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TTGCACCGCAAAGCGGGGACC	0.682																																					p.Q46H		Atlas-SNP	.											.	IGLL5	26	.	0			c.A138T						PASS	.																																			SO:0001583	missense	100423062	exon1			ACCGCAAAGCGGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.138A>T	22.37:g.23230371A>T	ENSP00000431254:p.Gln46His	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	63	49	0.777778	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284481	0.40394	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00597	6.31;6.41	3.55	-2.34	0.06704	.	.	.	.	.	T	0.00496	0.0016	N	0.24115	0.695	0.09310	N	1	P	0.52316	0.952	B	0.42692	0.395	T	0.53556	-0.8422	9	0.59425	D	0.04	.	7.4227	0.27081	0.5576:0.0:0.4424:0.0	.	46	B9A064	IGLL5_HUMAN	H	46	ENSP00000436353:Q46H;ENSP00000431254:Q46H	ENSP00000431254:Q46H	Q	+	3	2	IGLL5	21560371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.209000	0.09358	-0.338000	0.08413	-1.039000	0.02377	CAA	.	.	none		0.682	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230371	A	T	23230371	3	4	14	1	0	0	0	0	1	0	0	0	7594	11	1	5	140	5	IGLL5	22	23230371	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	93	23230371	28074195	279	3606	62	2								
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230380	23230380	+	Silent	SNP	C	C	T													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gttgcaccgcaaagcggggaCccagaccctggagcctcagt							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:23230380C>T	ENST00000526893.1	+	1	421	c.147C>T	c.(145-147)gaC>gaT	p.D49D	IGLL5_ENST00000531372.1_Silent_p.D49D|IGLL5_ENST00000532223.2_Silent_p.D49D|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	49						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AAAGCGGGGACCCAGACCCTG	0.682																																					p.T14I		Atlas-SNP	.											.	IGLL5	26	.	0			c.C41T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			CGGGGACCCAGAC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.147C>T	22.37:g.23230380C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	63	50	0.793651	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.682	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230380	C	T	23230380	2	4	14	1	0	0	0	0	0	0	0	1	7594	506	18	2		2	IGLL5	22	23230380	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9	23230380	28074186	280	3607	62	2								
THOC5	8563	hgsc.bcm.edu	37	chr22	29908012	29908012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccccagctgggtcttacccGaatgttgtcatcgttgctgt	10	12	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:29908012G>A	ENST00000490103.1	-	18	1917	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.R599W|THOC5_ENST00000397872.1_Missense_Mutation_p.R599W|THOC5_ENST00000397873.2_Missense_Mutation_p.R599W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	599					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCTTACCCGAATGTTGTCA	0.582																																					p.R599W		Atlas-SNP	.											THOC5,rectum,carcinoma,+1,2	THOC5	58	2	0			c.C1795T						scavenged	.						121	87	99					22																	29908012		2203	4300	6503	SO:0001583	missense	8563	exon19			TTACCCGAATGTT	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1795C>T	22.37:g.29908012G>A	ENSP00000420306:p.Arg599Trp	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	173	2	0.0115607	NM_001002878	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003851	0.74932	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.77820	2.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.63413	-0.6643	10	0.87932	D	0	-17.9576	14.7349	0.69409	0.0:0.0:0.8552:0.1448	.	599	Q13769	THOC5_HUMAN	W	599	ENSP00000420306:R599W;ENSP00000380970:R599W;ENSP00000380969:R599W;ENSP00000380971:R599W	ENSP00000380969:R599W	R	-	1	2	THOC5	28238012	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.749000	0.38319	2.879000	0.98667	0.650000	0.86243	CGG	.	.	none		0.582	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		A	29908012	G	A	29908012	3	1	14	1	0	0	0	0	1	0	0	0	15865	1057	37	1	268	1	THOC5	22	29908012	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	6677632	29908012	21396554	281	3608										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50714348	50714348	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tacttctgcgtgtattggtaGagctggtggagtgccacgag	15	7	1	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chr22:50714348G>A	ENST00000449103.1	-	36	5522	c.5382C>T	c.(5380-5382)ctC>ctT	p.L1794L	PLXNB2_ENST00000359337.4_Silent_p.L1794L|AL022328.1_ENST00000595015.1_Missense_Mutation_p.E56K			O15031	PLXB2_HUMAN	plexin B2	1794					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTATTGGTAGAGCTGGTGGA	0.672											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L1794L		Atlas-SNP	.											.	PLXNB2	172	.	0			c.C5382T						PASS	.						51	62	58					22																	50714348		2082	4203	6285	SO:0001819	synonymous_variant	23654	exon36			TTGGTAGAGCTGG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5382C>T	22.37:g.50714348G>A		Somatic	138	0	0	971	WXS	Illumina HiSeq	Phase_I	126	38	0.301587	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																			.	.	none		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50714348	G	A	50714348	2	1	14	1	0	0	0	0	0	0	0	1	12124	929	33	2		2	PLXNB2	22	50714348	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	20806336	50714348	590218	282	3609										
PHEX	5251	hgsc.bcm.edu	37	chrX	22117216	22117216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tccgagaatgtggtggtccgCgtcccgcagtactttaaaga	12	10	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:22117216C>T	ENST00000379374.4	+	9	1591	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.R342R|PHEX_ENST00000418858.3_Silent_p.R45R|PHEX_ENST00000535894.1_Silent_p.R245R	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					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						TGGTGGTCCGCGTCCCGCAGT	0.448																																					p.R342R		Atlas-SNP	.											.	PHEX	95	.	0			c.C1026T						PASS	.						117	106	110					X																	22117216		2203	4300	6503	SO:0001819	synonymous_variant	5251	exon9			GGTCCGCGTCCCG	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.1026C>T	X.37:g.22117216C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	64	6	0.09375	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	CCDS14204.1																																																																																			.	.	none		0.448	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		T	22117216	C	T	22117216	2	4	14	1	0	0	0	0	0	0	0	1	11819	755	27	1		1	PHEX	23	22117216	Silent	SNP	C	TCGA-FF-8047-01A-11D-2210-10		22117216	133153344	283	3610										
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382373	24382374	+	IGR	INS	-	-	TGCTGC													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	ttttctgctgctgctgctatINStgctgctgctgctgctgctg					rs371342199|rs35206911|rs201827126		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:24382373_24382374insTGCTGC								AC004552.1 (15350 upstream) : PDK3 (100963 downstream)																							gctgctgctattgctgctgctg	0.574																																					p.I499delinsIAA		Atlas-Indel	.											.	.	.	.	0			c.1496_1497insTGCTGC						PASS	.																																			SO:0001628	intergenic_variant	100130302	exon1			.																													X.37:g.24382374_24382379dupTGCTGC		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	206	37	0.179612	NM_001136234		In_Frame_Ins	INS		37																																																																																				.	.	alt	0	0.574									TGCTGC	24382374	-	TGCTGC	24382373	6	5	14	0	1	1	1	0	0	0	0	0	5573	1493	52	0		0	FAM48B1	23	24382373	IGR	INS	-	TCGA-FF-8047-01A-11D-2210-10	2265157	24382373	130888187	284	3611										
FAM47A	158724	hgsc.bcm.edu	37	chrX	34148961	34148961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgtcttgggatgttccgggtGgggatgggacacctgagtct	17	7	2	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:34148961G>A	ENST00000346193.3	-	1	1486	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	479										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTTCCGGGTGGGGATGGGAC	0.622																																					p.H479Y		Atlas-SNP	.											.	FAM47A	249	.	0			c.C1435T						PASS	.						48	54	52					X																	34148961		2170	4263	6433	SO:0001583	missense	158724	exon1			CCGGGTGGGGATG	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1435C>T	X.37:g.34148961G>A	ENSP00000345029:p.His479Tyr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	84	67	0.797619	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	1.827	-0.470858	0.04445	.	.	ENSG00000185448	ENST00000346193	T	0.13657	2.57	0.48	-0.96	0.10340	.	.	.	.	.	T	0.06234	0.0161	N	0.03608	-0.345	0.20873	N	0.999838	D	0.54772	0.968	P	0.46758	0.526	T	0.22243	-1.0222	8	0.40728	T	0.16	.	.	.	.	.	479	Q5JRC9	FA47A_HUMAN	Y	479	ENSP00000345029:H479Y	ENSP00000345029:H479Y	H	-	1	0	FAM47A	34058882	0.002000	0.14202	0.009000	0.14445	0.040000	0.13550	-0.289000	0.08365	-0.679000	0.05217	0.183000	0.17082	CAC	.	.	none		0.622	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		A	34148961	G	A	34148961	3	1	14	1	0	0	0	0	1	0	0	0	5569	1348	47	2	944	2	FAM47A	23	34148961	Missense_Mutation	SNP	G	TCGA-FF-8047-01A-11D-2210-10	9766588	34148961	121121599	285	3612										
WDR13	64743	hgsc.bcm.edu	37	chrX	48462764	48462765	+	Frame_Shift_Ins	INS	-	-	G													0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	cccctcatgtccttccgccaINSgggggcctgcgtgggtgagt							TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:48462764_48462765insG	ENST00000218056.5	+	8	1764_1765	c.1259_1260insG	c.(1258-1263)caggggfs	p.QG420fs	WDR13_ENST00000376729.5_Frame_Shift_Ins_p.QG420fs	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	420						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCCTTCCGCCAGGGGGCCTGCG	0.629																																					p.Q420fs		Pindel,Atlas-Indel	.											.	WDR13	96	.	0			c.1259_1260insG						PASS	.																																			SO:0001589	frameshift_variant	64743	exon8			.	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1264dupG	X.37:g.48462769_48462769dupG	ENSP00000218056:p.Gln420fs	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	45	25	0.556	NM_017883	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Frame_Shift_Ins	INS	ENST00000218056.5	37	CCDS14302.1																																																																																			.	.	none		0.629	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			G	48462765	-	G	48462764	7	5	14	1	0	1	1	0	0	0	0	0	17272	188	7	0	1289	0	WDR13	23	48462764	Frame_Shift_Ins	INS	-	TCGA-FF-8047-01A-11D-2210-10	14313803	48462764	106807796	286	3613										
RGAG1	57529	hgsc.bcm.edu	37	chrX	109697658	109697658	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggtctgatgccattctacgGaccaggtttctggaaggact	12	9	3	1			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:109697658G>A	ENST00000465301.2	+	3	4059	c.3813G>A	c.(3811-3813)cgG>cgA	p.R1271R	RGAG1_ENST00000540313.1_Silent_p.R1271R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1271										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCATTCTACGGACCAGGTTTC	0.522																																					p.R1271R		Atlas-SNP	.											.	RGAG1	168	.	0			c.G3813A						PASS	.						126	122	123					X																	109697658		2203	4300	6503	SO:0001819	synonymous_variant	57529	exon3			TCTACGGACCAGG	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3813G>A	X.37:g.109697658G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	107	8	0.0747664	NM_020769	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																			.	.	none		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109697658	G	A	109697658	2	1	14	1	0	0	0	0	0	0	0	1	13274	1161	41	2		2	RGAG1	23	109697658	Silent	SNP	G	TCGA-FF-8047-01A-11D-2210-10	61234894	109697658	45572902	287	3614										
UBE2A	7319	hgsc.bcm.edu	37	chrX	118708868	118708868	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gtctgtcttcccgaaggttgCaggaggatcctccagccgga	13	12	2	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:118708868C>T	ENST00000371558.2	+	2	223	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Nonsense_Mutation_p.Q17*	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	17					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CCGAAGGTTGCAGGAGGATCC	0.701								Rad6 pathway																													p.Q17X		Atlas-SNP	.											.	UBE2A	43	.	0			c.C49T						PASS	.						137	111	120					X																	118708868		2203	4300	6503	SO:0001587	stop_gained	7319	exon2			AGGTTGCAGGAGG	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.49C>T	X.37:g.118708868C>T	ENSP00000360613:p.Gln17*	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	106	81	0.764151	NM_003336	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Nonsense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277119	0.95459	.	.	ENSG00000077721	ENST00000371558;ENST00000346330	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.7589	15.601	0.76626	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000335027:Q17X	Q	+	1	0	UBE2A	118592896	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	7.145000	0.77365	2.131000	0.65755	0.529000	0.55759	CAG	.	.	none		0.701	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		T	118708868	C	T	118708868	4	4	14	1	0	0	0	0	0	1	0	0	16841	711	25	2	55	2	UBE2A	23	118708868	Nonsense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	9011210	118708868	36561692	288	3615										
STAG2	10735	hgsc.bcm.edu	37	chrX	123182892	123182892	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgaaatagaaaatatgatgaAtgcaatatttaaaggagtgt	9	1	0	4			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:123182892A>T	ENST00000371160.1	+	10	1147	c.857A>T	c.(856-858)aAt>aTt	p.N286I	STAG2_ENST00000218089.9_Missense_Mutation_p.N286I|STAG2_ENST00000371145.3_Missense_Mutation_p.N286I|STAG2_ENST00000371157.3_Missense_Mutation_p.N286I|STAG2_ENST00000371144.3_Missense_Mutation_p.N286I|STAG2_ENST00000354548.5_Missense_Mutation_p.N217I|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	286					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATATGATGAATGCAATATTT	0.294																																					p.N286I		Atlas-SNP	.											.	STAG2	309	.	0			c.A857T						PASS	.						100	93	96					X																	123182892		2203	4297	6500	SO:0001583	missense	10735	exon10			TGATGAATGCAAT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.857A>T	X.37:g.123182892A>T	ENSP00000360202:p.Asn286Ile	Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	256	21	0.0820312	NM_001042749	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419454	0.83559	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.85041	2.73	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.65684	0.937;0.933	T	0.65059	-0.6260	10	0.62326	D	0.03	-0.079	14.1713	0.65512	1.0:0.0:0.0:0.0	.	286;286	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	286;286;217;286;286;286;286	ENSP00000218089:N286I;ENSP00000397265:N286I;ENSP00000346555:N217I;ENSP00000360202:N286I;ENSP00000360199:N286I;ENSP00000360187:N286I;ENSP00000360186:N286I	ENSP00000218089:N286I	N	+	2	0	STAG2	123010573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.228000	0.95250	1.809000	0.52856	0.486000	0.48141	AAT	.	.	none		0.294	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123182892	A	T	123182892	3	4	14	1	0	0	0	0	1	0	0	0	15242	101	4	5	887	5	STAG2	23	123182892	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	4474024	123182892	32087668	289	3616										
PLAC1	10761	hgsc.bcm.edu	37	chrX	133700486	133700486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tgatgccacattcagtaacaCggtaggtgaactggtaggcg	13	8	1	2	rs200146589		TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:133700486C>T	ENST00000359237.4	-	3	512	c.227G>A	c.(226-228)cGt>cAt	p.R76H	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTAACACGGTAGGTGAA	0.488													C|||	1	0.000264901	0.0	0.0	3775	,	,		17035	0.001		0.0	False		,,,				2504	0.0				p.R76H		Atlas-SNP	.											.	PLAC1	17	.	0			c.G227A						PASS	.						234	193	207					X																	133700486		2203	4300	6503	SO:0001583	missense	10761	exon3			GTAACACGGTAGG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.227G>A	X.37:g.133700486C>T	ENSP00000352173:p.Arg76His	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_021796		Missense_Mutation	SNP	ENST00000359237.4	37	CCDS14642.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.39	2.818858	0.50633	.	.	ENSG00000170965	ENST00000359237	D	0.82526	-1.62	4.5	3.63	0.41609	.	0.165937	0.29159	N	0.012976	D	0.88085	0.6342	M	0.72479	2.2	0.32859	D	0.507722	D	0.89917	1.0	D	0.76575	0.988	D	0.88235	0.2906	10	0.35671	T	0.21	-20.1143	8.8436	0.35157	0.2223:0.7777:0.0:0.0	.	76	Q9HBJ0	PLAC1_HUMAN	H	76	ENSP00000352173:R76H	ENSP00000352173:R76H	R	-	2	0	PLAC1	133528152	0.907000	0.30839	0.869000	0.34112	0.580000	0.36256	1.622000	0.36997	1.226000	0.43582	0.600000	0.82982	CGT	C|0.999;T|0.001	0.001	strong		0.488	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		T	133700486	C	T	133700486	3	4	14	1	0	0	0	0	1	0	0	0	12012	536	19	1	415	1	PLAC1	23	133700486	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	10517594	133700486	21570074	290	3617										
LDOC1	23641	hgsc.bcm.edu	37	chrX	140271025	140271025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	taaactcggggagccgggagCtctcgccattaaacgtttcg	12	11	1	0			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:140271025C>A	ENST00000370526.2	-	1	285	c.182G>T	c.(181-183)aGc>aTc	p.S61I	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	61					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCCGGGAGCTCTCGCCATT	0.617																																					p.S61I		Atlas-SNP	.											.	LDOC1	26	.	0			c.G182T						PASS	.						49	44	45					X																	140271025		2203	4300	6503	SO:0001583	missense	23641	exon1			CGGGAGCTCTCGC	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.182G>T	X.37:g.140271025C>A	ENSP00000359557:p.Ser61Ile	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	35	24	0.685714	NM_012317	Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.991895	0.35131	.	.	ENSG00000182195	ENST00000370526	T	0.32023	1.47	3.61	1.75	0.24633	.	0.179052	0.36591	N	0.002511	T	0.22244	0.0536	L	0.46157	1.445	0.09310	N	0.999999	P	0.39665	0.682	B	0.33690	0.168	T	0.09885	-1.0654	10	0.51188	T	0.08	-8.3488	8.8927	0.35444	0.0:0.5574:0.4426:0.0	.	61	O95751	LDOC1_HUMAN	I	61	ENSP00000359557:S61I	ENSP00000359557:S61I	S	-	2	0	LDOC1	140098691	0.893000	0.30496	0.335000	0.25508	0.944000	0.59088	0.619000	0.24388	0.331000	0.23511	0.287000	0.19450	AGC	.	.	none		0.617	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		A	140271025	C	A	140271025	3	1	14	1	0	0	0	0	1	0	0	0	8709	797	28	4	262	4	LDOC1	23	140271025	Missense_Mutation	SNP	C	TCGA-FF-8047-01A-11D-2210-10	6570539	140271025	14999535	291	3618										
MTMR1	8776	hgsc.bcm.edu	37	chrX	149896207	149896207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	gagtgatcagcagagtggagAagattggagcacagagccat	15	6	1	5			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:149896207A>C	ENST00000370390.3	+	5	632	c.475A>C	c.(475-477)Aag>Cag	p.K159Q	MTMR1_ENST00000544228.1_Missense_Mutation_p.K159Q|MTMR1_ENST00000445323.2_Missense_Mutation_p.K167Q|MTMR1_ENST00000451863.2_Missense_Mutation_p.K159Q|MTMR1_ENST00000542156.1_Missense_Mutation_p.K159Q|MTMR1_ENST00000541925.1_Missense_Mutation_p.K65Q|MTMR1_ENST00000538506.1_Missense_Mutation_p.K46Q	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	159	GRAM.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTGGAGAAGATTGGAGC	0.423																																					p.K159Q		Atlas-SNP	.											.	MTMR1	82	.	0			c.A475C						PASS	.						125	108	114					X																	149896207		2203	4300	6503	SO:0001583	missense	8776	exon5			GTGGAGAAGATTG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.475A>C	X.37:g.149896207A>C	ENSP00000359417:p.Lys159Gln	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	122	92	0.754098	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.953853	0.73902	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000439546;ENST00000429965;ENST00000434699;ENST00000542156;ENST00000370390;ENST00000490316;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000438018;ENST00000436701;ENST00000538506	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.08	5.08	0.68730	GRAM (2);	0.154112	0.56097	D	0.000028	D	0.94275	0.8161	M	0.80847	2.515	0.58432	D	0.999997	P;P;D	0.57899	0.921;0.904;0.981	P;P;P	0.58970	0.849;0.704;0.804	D	0.94951	0.8100	10	0.87932	D	0	.	14.1476	0.65360	1.0:0.0:0.0:0.0	.	159;167;159	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	Q	65;65;65;65;65;159;159;176;167;159;159;123;140;46	ENSP00000441879:K65Q;ENSP00000431992:K65Q;ENSP00000404599:K65Q;ENSP00000390736:K65Q;ENSP00000405946:K65Q;ENSP00000445281:K159Q;ENSP00000359417:K159Q;ENSP00000436957:K176Q;ENSP00000414178:K167Q;ENSP00000440534:K159Q;ENSP00000387446:K159Q;ENSP00000389884:K123Q;ENSP00000414925:K140Q;ENSP00000443444:K46Q	ENSP00000359417:K159Q	K	+	1	0	MTMR1	149646865	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.001000	0.63946	1.787000	0.52448	0.441000	0.28932	AAG	.	.	none		0.423	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		C	149896207	A	C	149896207	3	2	14	1	0	0	0	0	1	0	0	0	9938	247	9	5	493	5	MTMR1	23	149896207	Missense_Mutation	SNP	A	TCGA-FF-8047-01A-11D-2210-10	9625182	149896207	5374353	292	3619										
MTMR1	8776	hgsc.bcm.edu	37	chrX	149896262	149896262	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.041522491349481	12	1	0.527632529250325	1.26045548654244	0.472670807453416	0.0063295493636051	0.0235919567188917	0	tggtatagagatagtgtgcaAggtataatagaaacgccaag	12	4	0	2			TCGA-FF-8047-01A-11D-2210-10	TCGA-FF-8047-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1b1780d5-06da-40ee-9e15-02631a68027b	07c3103c-94ed-4fee-968d-318721aa84a9	g.chrX:149896262A>G	ENST00000370390.3	+	5	687	c.530A>G	c.(529-531)aAg>aGg	p.K177R	MTMR1_ENST00000544228.1_Splice_Site_p.K177R|MTMR1_ENST00000445323.2_Splice_Site_p.K185R|MTMR1_ENST00000451863.2_Splice_Site_p.K177R|MTMR1_ENST00000542156.1_Splice_Site_p.K177R|MTMR1_ENST00000541925.1_Splice_Site_p.K83R|MTMR1_ENST00000538506.1_Splice_Site_p.K64R	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	177					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGTGTGCAAGGTATAATAG	0.423																																					p.K177R		Atlas-SNP	.											.	MTMR1	82	.	0			c.A530G						PASS	.						89	81	84					X																	149896262		2203	4300	6503	SO:0001630	splice_region_variant	8776	exon5			TGTGCAAGGTATA	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.531+1A>G	X.37:g.149896262A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	67	50	0.746269	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	a	24.9	4.582513	0.86748	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000439546;ENST00000429965;ENST00000434699;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.993;0.999	D	0.94719	0.7899	10	0.87932	D	0	.	14.1476	0.65360	1.0:0.0:0.0:0.0	.	177;185;177	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	R	83;83;83;83;83;177;177;185;177;177;64	ENSP00000441879:K83R;ENSP00000431992:K83R;ENSP00000404599:K83R;ENSP00000390736:K83R;ENSP00000405946:K83R;ENSP00000445281:K177R;ENSP00000359417:K177R;ENSP00000414178:K185R;ENSP00000440534:K177R;ENSP00000387446:K177R;ENSP00000443444:K64R	ENSP00000359417:K177R	K	+	2	0	MTMR1	149646920	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.026000	0.93700	1.787000	0.52448	0.441000	0.28932	AAG	.	.	none		0.423	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	Missense_Mutation	G	149896262	A	G	149896262	5	3	14	1	0	0	0	0	0	0	1	0	9938	86	3	3	548	3	MTMR1	23	149896262	Splice_Site	SNP	A	TCGA-FF-8047-01A-11D-2210-10	55	149896262	5374298	293	3620										
PLCH2	9651	hgsc.bcm.edu	37	chr1	2429995	2429995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caactcggaggaccccctgcCcgggcagctcaagaagcagc	12	16	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:2429995C>T	ENST00000419816.2	+	17	2532	c.2258C>T	c.(2257-2259)cCc>cTc	p.P753L	PLCH2_ENST00000449969.1_Missense_Mutation_p.P726L|PLCH2_ENST00000378488.3_Missense_Mutation_p.P717L|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.P753L			O75038	PLCH2_HUMAN	phospholipase C, eta 2	753	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GACCCCCTGCCCGGGCAGCTC	0.692																																					p.P753L		Atlas-SNP	.											PLCH2_ENST00000378486,right_lower_lobe,carcinoma,-1,2	PLCH2	131	2	0			c.C2258T						scavenged	.						15	18	17					1																	2429995		1906	4108	6014	SO:0001583	missense	9651	exon17			CCCTGCCCGGGCA	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2258C>T	1.37:g.2429995C>T	ENSP00000389803:p.Pro753Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	121	4	0.0330578	NM_014638	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.567966|5.567966	0.96540|0.96540	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878|ENST00000419816	T;T;T|.	0.29142|.	1.79;1.76;1.58|.	4.84|4.84	4.84|4.84	0.62591|0.62591	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);|.	0.054667|0.054667	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77377|0.77377	0.4121|0.4121	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	P;D;B;P|.	0.54207|.	0.598;0.965;0.406;0.751|.	B;P;B;P|.	0.59643|.	0.325;0.861;0.125;0.473|.	T|T	0.81127|0.81127	-0.1074|-0.1074	10|7	0.66056|0.72032	D|D	0.02|0.01	.|.	16.9045|16.9045	0.86123|0.86123	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;505;726;753|.	B9DI81;B9DI82;O75038-2;O75038|.	.;.;.;PLCH2_HUMAN|.	L|S	726;753;717;600;505|48	ENSP00000397289:P726L;ENSP00000367747:P753L;ENSP00000367749:P717L|.	ENSP00000278878:P505L|ENSP00000389803:P48S	P|P	+|+	2|1	0|0	PLCH2|PLCH2	2419855|2419855	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.983000|0.983000	0.72400|0.72400	3.756000|3.756000	0.55205|0.55205	2.224000|2.224000	0.72417|0.72417	0.561000|0.561000	0.74099|0.74099	CCC|CCG	.	.	none		0.692	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		T	2429995	C	T	2429995	3	4	15	1	0	0	0	0	1	0	0	0	12038	623	22	2	2324	2	PLCH2	1	2429995	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		2429995	246820626	1	3621										
TP73	7161	hgsc.bcm.edu	37	chr1	3649562	3649562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcggccctgacgagtgggcGgacttcggcttcgacctgcc	16	14	0	1	rs9662633	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:3649562G>A	ENST00000378295.4	+	14	1985	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TP73_ENST00000604479.1_Silent_p.A514A|TP73-AS1_ENST00000452079.1_RNA|TP73_ENST00000357733.3_Silent_p.A529A|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000603362.1_Silent_p.A529A|TP73-AS1_ENST00000418088.1_RNA|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000346387.4_Silent_p.A514A|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378288.4_Silent_p.A561A|TP73_ENST00000378290.4_Silent_p.A539A	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	610					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACGAGTGGGCGGACTTCGGCT	0.701													g|||	540	0.107827	0.1694	0.0245	5008	,	,		13381	0.2123		0.0308	False		,,,				2504	0.0552				p.A610A		Atlas-SNP	.											.	TP73	54	.	0			c.G1830A						PASS	.	A	,,,,,,,,,,,,	642,3678		43,556,1561	14	18	17		1683,,,,,,1587,1542,,1440,1395,1617,1830	-8.8	0.3	1	dbSNP_119	17	329,8159		5,319,3920	no	coding-synonymous,utr-3,utr-3,utr-3,utr-3,utr-3,coding-synonymous,coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TP73	NM_001126240.2,NM_001126241.2,NM_001126242.2,NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_001204189.1,NM_001204190.1,NM_001204191.1,NM_001204192.1,NM_005427.3	,,,,,,,,,,,,	48,875,5481	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	3.8761,14.8611,7.5812	,,,,,,,,,,,,	561/588,,,,,,529/556,514/541,,480/507,465/492,539/566,610/637	3649562	971,11837	2160	4244	6404	SO:0001819	synonymous_variant	7161	exon14			GTGGGCGGACTTC	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1830G>A	1.37:g.3649562G>A		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	15	12	0.8	NM_005427	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	ENST00000378295.4	37	CCDS49.1																																																																																			G|0.903;A|0.097	0.097	strong		0.701	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		A	3649562	G	A	3649562	2	1	15	1	0	0	0	0	0	0	0	1	16390	1103	39	1		1	TP73	1	3649562	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1219567	3649562	245601059	2	3622										
PLEKHM2	23207	hgsc.bcm.edu	37	chr1	16051840	16051840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctcacagacacggtcagtggTccccgctccacagcctccga	9	18	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:16051840T>C	ENST00000375799.3	+	8	968	c.741T>C	c.(739-741)ggT>ggC	p.G247G	PLEKHM2_ENST00000375793.2_Silent_p.G227G|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	247	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CGGTCAGTGGTCCCCGCTCCA	0.662																																					p.G247G		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.T741C						PASS	.						23	31	28					1																	16051840		1874	3784	5658	SO:0001819	synonymous_variant	23207	exon8			CAGTGGTCCCCGC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.741T>C	1.37:g.16051840T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																			.	.	none		0.662	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		C	16051840	T	C	16051840	2	2	15	1	0	0	0	0	0	0	0	1	12081	1654	58	2		2	PLEKHM2	1	16051840	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	12402278	16051840	233198781	3	3623										
KIF17	57576	hgsc.bcm.edu	37	chr1	21031010	21031010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttgatctcctcctggtactcGcgaagcagcgcatccttggg	11	13	1	1	rs76507805		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:21031010G>A	ENST00000247986.2	-	5	1363	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KIF17_ENST00000400463.3_Silent_p.R351R|KIF17_ENST00000375044.1_Silent_p.R251R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	351					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGGTACTCGCGAAGCAGCG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15725	0.001		0.0	False		,,,				2504	0.0				p.R351R		Atlas-SNP	.											KIF17,colon,carcinoma,0,1	KIF17	130	1	0			c.C1053T						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	134	105	115		1053,1053	-4.3	1	1	dbSNP_131	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	351/1029,351/1030	21031010	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57576	exon5			GTACTCGCGAAGC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1053C>T	1.37:g.21031010G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	168	53	0.315476	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																			G|1.000;A|0.000	0.000	strong		0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21031010	G	A	21031010	2	1	15	1	0	0	0	0	0	0	0	1	8279	1074	38	1		1	KIF17	1	21031010	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4979170	21031010	228219611	4	3624										
LDLRAD2	401944	hgsc.bcm.edu	37	chr1	22141206	22141206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtccccactgtgcggcctgaAcatcccggtgcctgtggcat	12	15	0	1	rs10917051	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:22141206A>C	ENST00000344642.2	+	2	588	c.401A>C	c.(400-402)aAc>aCc	p.N134T	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.N134T	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	134			N -> T (in dbSNP:rs10917051). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGCGGCCTGAACATCCCGGTG	0.741													C|||	3069	0.612819	0.4697	0.7695	5008	,	,		12048	0.6319		0.6988	False		,,,				2504	0.5869				p.N134T		Atlas-SNP	.											LDLRAD2,NS,carcinoma,0,1	LDLRAD2	17	1	0			c.A401C						scavenged	.	C	THR/ASN	2072,1906		618,836,535	4	5	5		401	3.9	1	1	dbSNP_120	5	5425,2403		1990,1445,479	yes	missense	LDLRAD2	NM_001013693.2	65	2608,2281,1014	CC,CA,AA		30.6975,47.9135,36.4984	benign	134/273	22141206	7497,4309	1989	3914	5903	SO:0001583	missense	401944	exon2			GCCTGAACATCCC	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.401A>C	1.37:g.22141206A>C	ENSP00000340988:p.Asn134Thr	Somatic	2	1	0.5		WXS	Illumina HiSeq	Phase_I	11	7	0.636364	NM_001013693	B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	CCDS30624.1	1389	0.635989010989011	215	0.4369918699186992	274	0.7569060773480663	373	0.6520979020979021	527	0.6952506596306068	C	0.596	-0.831142	0.02713	0.520865	0.693025	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.48836	0.8;0.8	4.83	3.9	0.45041	CUB (2);	0.433746	0.19858	N	0.104491	T	0.00012	0.0000	N	0.01352	-0.895	0.47511	P	5.549999999999722E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	9	0.02654	T	1	-7.9716	9.7096	0.40236	0.1595:0.6868:0.1536:0.0	rs10917051	134	Q5SZI1	LRAD2_HUMAN	T	134	ENSP00000340988:N134T;ENSP00000444097:N134T	ENSP00000340988:N134T	N	+	2	0	LDLRAD2	22013793	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	1.524000	0.35942	0.459000	0.27016	-0.382000	0.06688	AAC	A|0.362;C|0.638	0.638	strong		0.741	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		C	22141206	A	C	22141206	3	2	15	1	0	0	0	0	1	0	0	0	8706	43	2	5	407	5	LDLRAD2	1	22141206	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	1110196	22141206	227109415	5	3625										
COL16A1	1307	hgsc.bcm.edu	37	chr1	32149326	32149326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acctggggtccctggactccCcttcctggaggccctggctc	12	17	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:32149326C>T	ENST00000373672.3	-	34	2877	c.2361G>A	c.(2359-2361)agG>agA	p.R787R	COL16A1_ENST00000373668.3_Silent_p.R787R|COL16A1_ENST00000271069.6_Silent_p.R786R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	787	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTGGACTCCCCTTCCTGGAG	0.602																																					p.R787R	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											.	COL16A1	137	.	0			c.G2361A						PASS	.						73	92	86					1																	32149326		1979	4151	6130	SO:0001819	synonymous_variant	1307	exon34			GACTCCCCTTCCT	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2361G>A	1.37:g.32149326C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	73	31	0.424658	NM_001856	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																			.	.	none		0.602	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32149326	C	T	32149326	2	4	15	1	0	0	0	0	0	0	0	1	3673	622	22	2		2	COL16A1	1	32149326	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	10008120	32149326	217101295	6	3626										
COL16A1	1307	hgsc.bcm.edu	37	chr1	32164126	32164126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtcacttgaaacagataccaCgtcttctggtgggtgtgttt	11	8	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:32164126C>T	ENST00000373672.3	-	5	864	c.348G>A	c.(346-348)acG>acA	p.T116T	COL16A1_ENST00000373668.3_Silent_p.T116T|COL16A1_ENST00000271069.6_Silent_p.T116T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	116	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ACAGATACCACGTCTTCTGGT	0.557																																					p.T116T	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											.	COL16A1	137	.	0			c.G348A						PASS	.						122	128	126					1																	32164126		2023	4176	6199	SO:0001819	synonymous_variant	1307	exon5			ATACCACGTCTTC	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.348G>A	1.37:g.32164126C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	83	7	0.0843373	NM_001856	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																			.	.	none		0.557	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32164126	C	T	32164126	2	4	15	1	0	0	0	0	0	0	0	1	3673	523	19	1		1	COL16A1	1	32164126	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	14800	32164126	217086495	7	3627										
HIVEP3	59269	hgsc.bcm.edu	37	chr1	41976328	41976328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcagaaggctcggggttggTcggtgcacgcggggactcca	19	10	0	1	rs9439043|rs386630667	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:41976328T>C	ENST00000372583.1	-	9	7900	c.7015A>G	c.(7015-7017)Acc>Gcc	p.T2339A	HIVEP3_ENST00000247584.5_Missense_Mutation_p.T2339A|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T2338A|HIVEP3_ENST00000372584.1_Missense_Mutation_p.T2338A|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2339			T -> A (in dbSNP:rs9439043). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:11161801, ECO:0000269|PubMed:15489334}.		positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCGGGGTTGGTCGGTGCACGC	0.746													C|||	4823	0.963059	0.8669	0.9899	5008	,	,		11687	1.0		0.998	False		,,,				2504	1.0				p.T2339A		Atlas-SNP	.											.	HIVEP3	235	.	0			c.A7015G						PASS	.	C	ALA/THR,ALA/THR	3684,344		1677,330,7	5	6	6		7012,7015	2.2	0	1	dbSNP_119	6	7782,22		3880,22,0	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	58,58	5557,352,7	CC,CT,TT		0.2819,8.5402,3.0933	benign,benign	2338/2406,2339/2407	41976328	11466,366	2014	3902	5916	SO:0001583	missense	59269	exon9			GGTTGGTCGGTGC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.7015A>G	1.37:g.41976328T>C	ENSP00000361664:p.Thr2339Ala	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	2113	0.9674908424908425	425	0.8638211382113821	359	0.9917127071823204	572	1.0	757	0.9986807387862797	C	0.003	-2.459584	0.00171	0.914598	0.997181	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05447	3.45;3.44;3.44;3.45	5.27	2.17	0.27698	.	0.652842	0.13380	N	0.392193	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32798	-0.9893	9	0.02654	T	1	-1.4083	8.5616	0.33514	0.0:0.5996:0.0:0.4004	rs9439043;rs61630948	2338;2339	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	A	2338;2339;2339;2338	ENSP00000361665:T2338A;ENSP00000361664:T2339A;ENSP00000247584:T2339A;ENSP00000410828:T2338A	ENSP00000247584:T2339A	T	-	1	0	HIVEP3	41748915	0.137000	0.22531	0.000000	0.03702	0.001000	0.01503	0.034000	0.13776	0.112000	0.17975	-2.304000	0.00258	ACC	T|0.032;C|0.968	0.968	strong		0.746	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		C	41976328	T	C	41976328	3	2	15	1	0	0	0	0	1	0	0	0	7188	1667	58	2	209	2	HIVEP3	1	41976328	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	9812202	41976328	207274293	8	3628										
ZSWIM5	57643	hgsc.bcm.edu	37	chr1	45506070	45506070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctaattactatacctttctTctgatgcttgtagatttcca	4	10	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:45506070T>C	ENST00000359600.5	-	7	1955	c.1750A>G	c.(1750-1752)Aag>Gag	p.K584E		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	584						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.K584*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATACCTTTCTTCTGATGCTTG	0.488																																					p.K584E		Atlas-SNP	.											ZSWIM5,NS,carcinoma,0,1	ZSWIM5	72	1	1	Substitution - Nonsense(1)	lung(1)	c.A1750G						scavenged	.						106	97	100					1																	45506070		1872	4112	5984	SO:0001583	missense	57643	exon7			CTTTCTTCTGATG	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1750A>G	1.37:g.45506070T>C	ENSP00000352614:p.Lys584Glu	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	178	3	0.0168539	NM_020883	Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108825	0.77096	.	.	ENSG00000162415	ENST00000359600	T	0.46451	0.87	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.45228	1.405	0.80722	D	1	B	0.31227	0.314	B	0.35240	0.198	T	0.18272	-1.0342	10	0.26408	T	0.33	-15.4875	14.7949	0.69870	0.0:0.0:0.0:1.0	.	584	Q9P217	ZSWM5_HUMAN	E	584	ENSP00000352614:K584E	ENSP00000352614:K584E	K	-	1	0	ZSWIM5	45278657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.042000	0.60477	0.533000	0.62120	AAG	.	.	none		0.488	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		C	45506070	T	C	45506070	3	2	15	1	0	0	0	0	1	0	0	0	18241	1792	62	2	1839	2	ZSWIM5	1	45506070	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	3529742	45506070	203744551	9	3629										
CYP4A11	1579	hgsc.bcm.edu	37	chr1	47395874	47395874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gatttcaacacaagtcgtgcAatggggatggggatcctggt	14	7	1	0	rs148507594	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:47395874A>C	ENST00000310638.4	-	12	1504	c.1473T>G	c.(1471-1473)atT>atG	p.I491M	CYP4A11_ENST00000371904.4_Missense_Mutation_p.I492M|CYP4A11_ENST00000462347.1_Missense_Mutation_p.I393M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	491					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.I491M(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAAGTCGTGCAATGGGGATGG	0.562													N|||	7	0.00139776	0.0015	0.0	5008	,	,		21860	0.0		0.001	False		,,,				2504	0.0041				p.I491M		Atlas-SNP	.											CYP4A11,NS,carcinoma,0,1	CYP4A11	77	1	1	Substitution - Missense(1)	endometrium(1)	c.T1473G						scavenged	.						124	109	114					1																	47395874		2203	4300	6503	SO:0001583	missense	1579	exon12			TCGTGCAATGGGG	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1473T>G	1.37:g.47395874A>C	ENSP00000311095:p.Ile491Met	Somatic	206	2	0.00970874		WXS	Illumina HiSeq	Phase_I	212	3	0.0141509	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	A	5.139	0.211298	0.09757	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70164	-0.46;-0.46	4.41	-8.82	0.00810	.	1.064920	0.07281	N	0.870735	T	0.37237	0.0996	N	0.17564	0.495	0.09310	N	1	B	0.09022	0.002	B	0.23018	0.043	T	0.24799	-1.0150	10	0.13108	T	0.6	.	2.0606	0.03591	0.2182:0.3451:0.2706:0.166	.	491	Q02928	CP4AB_HUMAN	M	491;492	ENSP00000311095:I491M;ENSP00000360971:I492M	ENSP00000311095:I491M	I	-	3	3	CYP4A11	47168461	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.724000	0.00809	-2.209000	0.00739	-1.524000	0.00929	ATT	.	.	weak		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47395874	A	C	47395874	3	2	15	1	0	0	0	0	1	0	0	0	4183	126	5	5	90	5	CYP4A11	1	47395874	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	1889804	47395874	201854747	10	3630										
DOCK7	85440	hgsc.bcm.edu	37	chr1	63003701	63003701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcaaggacaccagaacactgGgattcggtaatgagtaaagc	11	8	1	2	rs188530601		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:63003701G>T	ENST00000340370.5	-	27	3256	c.3239C>A	c.(3238-3240)cCc>cAc	p.P1080H	DOCK7_ENST00000251157.5_Missense_Mutation_p.P1111H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1111					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGAACACTGGGATTCGGTAA	0.378																																					p.P1111H		Atlas-SNP	.											DOCK7,NS,malignant_melanoma,-1,1	DOCK7	184	1	0			c.C3332A						scavenged	.						132	118	122					1																	63003701		2203	4300	6503	SO:0001583	missense	85440	exon28			ACACTGGGATTCG		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3239C>A	1.37:g.63003701G>T	ENSP00000340742:p.Pro1080His	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	112	3	0.0267857	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.99	2.400940	0.42613	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.47528	0.84;0.84	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	N	0.19112	0.55	0.80722	D	1	B;D;D;D;D	0.76494	0.359;0.998;0.999;0.958;0.99	B;D;D;P;P	0.69824	0.134;0.938;0.966;0.862;0.904	T	0.55088	-0.8195	10	0.40728	T	0.16	.	19.0168	0.92897	0.0:0.0:1.0:0.0	.	1111;1080;1080;1080;1111	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	H	1111;1111;1080	ENSP00000251157:P1111H;ENSP00000340742:P1080H	ENSP00000251157:P1111H	P	-	2	0	DOCK7	62776289	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	9.578000	0.98200	2.737000	0.93849	0.561000	0.74099	CCC	G|1.000;T|0.000	0.000	strong		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63003701	G	T	63003701	3	4	15	1	0	0	0	0	1	0	0	0	4692	1232	43	4	3182	4	DOCK7	1	63003701	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	15607827	63003701	186246920	11	3631										
BRDT	676	hgsc.bcm.edu	37	chr1	92445221	92445221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gatatcacagaaaccactggTagagagaacactaatgaagc	9	8	1	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:92445221T>C	ENST00000362005.3	+	9	1612	c.1194T>C	c.(1192-1194)ggT>ggC	p.G398G	BRDT_ENST00000370389.2_Silent_p.G325G|BRDT_ENST00000399546.2_Silent_p.G398G|BRDT_ENST00000402388.1_Silent_p.G398G|BRDT_ENST00000394530.3_Silent_p.G352G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	398					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAACCACTGGTAGAGAGAACA	0.418																																					p.G402G		Atlas-SNP	.											BRDT,NS,carcinoma,+1,1	BRDT	133	1	0			c.T1206C						scavenged	.						108	107	107					1																	92445221		2203	4300	6503	SO:0001819	synonymous_variant	676	exon8			CACTGGTAGAGAG	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1194T>C	1.37:g.92445221T>C		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	205	3	0.0146341	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																			.	.	none		0.418	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		C	92445221	T	C	92445221	2	2	15	1	0	0	0	0	0	0	0	1	1508	1625	57	2		2	BRDT	1	92445221	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	29441520	92445221	156805400	12	3632										
DPYD	1806	hgsc.bcm.edu	37	chr1	97548004	97548004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caccaaatgttccaaggtacTgcagtgcttttcctattaca	6	11	0	0	rs568169006		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:97548004T>C	ENST00000370192.3	-	22	2889	c.2789A>G	c.(2788-2790)cAg>cGg	p.Q930R		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	930					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCCAAGGTACTGCAGTGCTTT	0.343																																					p.Q930R		Atlas-SNP	.											.	DPYD	219	.	0			c.A2789G						PASS	.						206	194	198					1																	97548004		2203	4299	6502	SO:0001583	missense	1806	exon22			AGGTACTGCAGTG	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2789A>G	1.37:g.97548004T>C	ENSP00000359211:p.Gln930Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	109	44	0.40367	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	6.890	0.533671	0.13188	.	.	ENSG00000188641	ENST00000370192	D	0.89939	-2.59	5.82	3.5	0.40072	.	0.511060	0.21827	N	0.068524	T	0.70789	0.3264	L	0.39245	1.2	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63651	-0.6589	10	0.31617	T	0.26	-0.5352	6.781	0.23646	0.0:0.1332:0.1289:0.7378	.	930	Q12882	DPYD_HUMAN	R	930	ENSP00000359211:Q930R	ENSP00000359211:Q930R	Q	-	2	0	DPYD	97320592	1.000000	0.71417	0.988000	0.46212	0.110000	0.19582	1.641000	0.37197	0.461000	0.27071	-0.291000	0.09656	CAG	.	.	none		0.343	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		C	97548004	T	C	97548004	3	2	15	1	0	0	0	0	1	0	0	0	4745	1580	55	3	296	3	DPYD	1	97548004	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	5102783	97548004	151702617	13	3633										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957523	111957523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacagactgatgactcacagGggtcacagactgatgaccca	10	12	2	6	rs3767608|rs201350653		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:111957523G>T	ENST00000369732.3	-	11	1655	c.1600C>A	c.(1600-1602)Cct>Act	p.P534T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	534					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGACTCACAGGGGTCACAGAC	0.537																																					p.P534T		Atlas-SNP	.											OVGP1_ENST00000369728,NS,carcinoma,0,2	OVGP1	177	2	4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)	c.C1600A						PASS	.																																			SO:0001583	missense	5016	exon11			TCACAGGGGTCAC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1600C>A	1.37:g.111957523G>T	ENSP00000358747:p.Pro534Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	144	22	0.152778	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100669	0.20552	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.19105	2.17	2.35	-0.421	0.12332	.	.	.	.	.	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.42999	-0.9418	9	0.36615	T	0.2	9.8099	5.0173	0.14343	0.4538:0.0:0.5462:0.0	.	534;598	Q12889;Q59HH5	OVGP1_HUMAN;.	T	534;598;342	ENSP00000358747:P534T	ENSP00000358743:P598T	P	-	1	0	OVGP1	111759046	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-1.483000	0.02318	-0.296000	0.08947	0.460000	0.39030	CCT	G|1.000;A|0.000	.	alt		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957523	G	T	111957523	3	4	15	1	0	0	0	0	1	0	0	0	11325	1232	43	4	440	4	OVGP1	1	111957523	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	14409519	111957523	137293098	14	3634										
POLR3C	10623	hgsc.bcm.edu	37	chr1	145601603	145601603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cactcattcggagcatggttCgcacaatctcgctgcttgtc	9	13	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:145601603C>T	ENST00000334163.3	-	7	963	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	POLR3C_ENST00000369294.1_Missense_Mutation_p.R268Q|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	268					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R268Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GAGCATGGTTCGCACAATCTC	0.448																																					p.R268Q		Atlas-SNP	.											POLR3C,caecum,carcinoma,0,1	POLR3C	41	1	1	Substitution - Missense(1)	large_intestine(1)	c.G803A						scavenged	.						178	162	168					1																	145601603		2203	4300	6503	SO:0001583	missense	10623	exon7			ATGGTTCGCACAA	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.803G>A	1.37:g.145601603C>T	ENSP00000334564:p.Arg268Gln	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	191	3	0.0157068	NM_006468	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141992	0.94560	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.47869	0.83;0.83	5.79	4.87	0.63330	RNA polymerase III Rpc82, C -terminal (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.56769	1.78	0.54753	D	0.999988	D;D;D	0.64830	0.994;0.968;0.988	P;P;P	0.54664	0.493;0.619;0.758	T	0.40270	-0.9572	10	0.44086	T	0.13	-16.2475	13.1249	0.59349	0.0:0.9204:0.0:0.0796	.	268;268;268	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	268	ENSP00000334564:R268Q;ENSP00000358300:R268Q	ENSP00000334564:R268Q	R	-	2	0	POLR3C	144312960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.706000	0.68362	2.728000	0.93425	0.561000	0.74099	CGA	.	.	none		0.448	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145601603	C	T	145601603	3	4	15	1	0	0	0	0	1	0	0	0	12230	884	31	1	837	1	POLR3C	1	145601603	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	33644080	145601603	103649018	15	3635										
FMO5	2330	hgsc.bcm.edu	37	chr1	146656089	146656089	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgttatgtctccttaggcccCtttattccgggacaatttct	7	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:146656089C>T	ENST00000254090.4	-	0	2632				RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.K459K|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ccttaggcccctttattccgg	0.348																																					p.K459K		Atlas-SNP	.											.	FMO5	94	.	0			c.G1377A						PASS	.						98	87	90					1																	146656089		692	1591	2283	SO:0001628	intergenic_variant	2330	exon9			AGGCCCCTTTATT	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607		1.37:g.146656089C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	76	4	0.0526316	NM_001144829	B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	CCDS926.1																																																																																			.	.	none		0.348	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		T	146656089	C	T	146656089	1	4	15	0	1	0	0	0	0	0	0	0	5958	680	24	2		2	FMO5	1	146656089	IGR	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1054486	146656089	102594532	16	3636										
HIST2H2BE	8349	hgsc.bcm.edu	37	chr1	149857830	149857830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcacttggagctggtgtactTggtgaccgccttggtgccct	13	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:149857830T>C	ENST00000369155.2	-	1	402	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	121					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTGGTGTACTTGGTGACCGCC	0.667																																					p.K121E		Atlas-SNP	.											.	HIST2H2BE	33	.	0			c.A361G						PASS	.						30	35	33					1																	149857830		2202	4299	6501	SO:0001583	missense	8349	exon1			TGTACTTGGTGAC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.361A>G	1.37:g.149857830T>C	ENSP00000358151:p.Lys121Glu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	117	38	0.324786	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	CCDS936.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909008	0.92107	.	.	ENSG00000184678	ENST00000369155	T	0.46063	0.88	6.07	6.07	0.98685	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	H	0.98664	4.295	0.38928	D	0.957879	P	0.52842	0.956	B	0.40329	0.326	T	0.76302	-0.3009	10	0.87932	D	0	.	15.47	0.75434	0.0:0.0:0.0:1.0	.	121	Q16778	H2B2E_HUMAN	E	121	ENSP00000358151:K121E	ENSP00000358151:K121E	K	-	1	0	HIST2H2BE	148124454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.924000	0.87555	2.330000	0.79161	0.477000	0.44152	AAG	.	.	none		0.667	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		C	149857830	T	C	149857830	3	2	15	1	0	0	0	0	1	0	0	0	7179	1821	63	2	23	2	HIST2H2BE	1	149857830	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	3201741	149857830	99392791	17	3637										
BNIPL	149428	hgsc.bcm.edu	37	chr1	151018347	151018347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agcatttctggcactgcttcGgcccttcatcaggtactagt	9	12	3	0	rs200161296		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:151018347G>T	ENST00000368931.3	+	8	1082	c.926G>T	c.(925-927)cGg>cTg	p.R309L	C1orf56_ENST00000368926.5_5'Flank|BNIPL_ENST00000295294.7_Missense_Mutation_p.R227L|BNIPL_ENST00000491386.1_3'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	309	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R309Q(1)|p.R227Q(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACTGCTTCGGCCCTTCATC	0.443																																					p.R309L		Atlas-SNP	.											BNIPL_ENST00000368931,NS,carcinoma,0,2	BNIPL	45	2	2	Substitution - Missense(2)	endometrium(2)	c.G926T						scavenged	.						156	142	147					1																	151018347		2203	4300	6503	SO:0001583	missense	149428	exon8			TGCTTCGGCCCTT	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.926G>T	1.37:g.151018347G>T	ENSP00000357927:p.Arg309Leu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_138278	Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089564	0.55968	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.25579	1.79;1.79;1.79	5.08	5.08	0.68730	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.134965	0.49916	D	0.000125	T	0.21921	0.0528	M	0.73962	2.25	0.47476	D	0.999439	B	0.21905	0.062	B	0.24006	0.05	T	0.05402	-1.0887	10	0.62326	D	0.03	.	16.0182	0.80460	0.0:0.0:1.0:0.0	.	309	Q7Z465	BNIPL_HUMAN	L	309;307;227	ENSP00000357927:R309L;ENSP00000355333:R307L;ENSP00000295294:R227L	ENSP00000295294:R227L	R	+	2	0	BNIPL	149284971	0.277000	0.24220	1.000000	0.80357	0.997000	0.91878	1.319000	0.33655	2.634000	0.89283	0.561000	0.74099	CGG	G|1.000;A|0.000	.	alt		0.443	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		T	151018347	G	T	151018347	3	4	15	1	0	0	0	0	1	0	0	0	1480	1116	39	4	956	4	BNIPL	1	151018347	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1160517	151018347	98232274	18	3638										
FLG	2312	hgsc.bcm.edu	37	chr1	152278049	152278049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acgaatggtgtcctgaccgtAttgggatgctgagtgcctgg	15	8	0	2	rs2065958	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:152278049A>C	ENST00000368799.1	-	3	9348	c.9313T>G	c.(9313-9315)Tac>Gac	p.Y3105D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3105	Ser-rich.		Y -> D (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCGTATTGGGATGCT	0.597									Ichthyosis				C|||	866	0.172923	0.1589	0.1787	5008	,	,		11687	0.3294		0.0686	False		,,,				2504	0.1339				p.Y3105D		Atlas-SNP	.											FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.T9313G						scavenged	.						207	261	244					1																	152278049		1917	4215	6132	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GACCGTATTGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9313T>G	1.37:g.152278049A>C	ENSP00000357789:p.Tyr3105Asp	Somatic	5	5	1		WXS	Illumina HiSeq	Phase_I	18	18	1	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302611	0.10678	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	3.92	-5.83	0.02325	.	.	.	.	.	T	0.00241	0.0007	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	8	0.15066	T	0.55	.	6.4277	0.21778	0.1024:0.2853:0.5231:0.0891	rs41432453	3105	P20930	FILA_HUMAN	D	3105	ENSP00000357789:Y3105D	ENSP00000357789:Y3105D	Y	-	1	0	FLG	150544673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.179000	0.01259	-1.367000	0.02152	-0.383000	0.06682	TAC	A|0.173;C|0.827	0.827	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152278049	A	C	152278049	3	2	15	1	0	0	0	0	1	0	0	0	5922	449	16	5	2876	5	FLG	1	152278049	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	1259702	152278049	96972572	19	3639										
FLG	2312	hgsc.bcm.edu	37	chr1	152284344	152284344	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaagtctctgcgtgaggagtTcctgattgtctggagctgtc	14	8	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:152284344T>G	ENST00000368799.1	-	3	3053	c.3018A>C	c.(3016-3018)ggA>ggC	p.G1006G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1006	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGAGGAGTTCCTGATTGTC	0.582									Ichthyosis																												p.G1006G		Atlas-SNP	.											FLG,NS,carcinoma,-2,1	FLG	900	1	0			c.A3018C						scavenged	.						295	297	296					1																	152284344		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGGAGTTCCTGAT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3018A>C	1.37:g.152284344T>G		Somatic	322	5	0.015528		WXS	Illumina HiSeq	Phase_I	405	12	0.0296296	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	none		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284344	T	G	152284344	2	3	15	1	0	0	0	0	0	0	0	1	5922	1770	62	5		5	FLG	1	152284344	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	6295	152284344	96966277	20	3640										
DENND4B	9909	hgsc.bcm.edu	37	chr1	153907306	153907306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctgctgctgctgctgctgTtgctgctgctgctgctgttg	14	11	0	0	rs2275483|rs375088543|rs557071025	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:153907306T>C	ENST00000361217.4	-	18	3121	c.2703A>G	c.(2701-2703)caA>caG	p.Q901Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	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)	p.Q789Q(2)		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)			gctgctgctgttgctgctgct	0.647													T|||	552	0.110224	0.0582	0.1441	5008	,	,		16993	0.1627		0.0378	False		,,,				2504	0.1769				p.Q901Q		Atlas-SNP	.											DENND4B,NS,carcinoma,0,2	DENND4B	210	2	2	Substitution - coding silent(2)	prostate(2)	c.A2703G						scavenged	.	T		25,4345		2,21,2162	31	40	37		2703	2.1	1	1	dbSNP_120	37	106,8456		7,92,4182	no	coding-synonymous	DENND4B	NM_014856.2		9,113,6344	CC,CT,TT		1.238,0.5721,1.013		901/1497	153907306	131,12801	2185	4281	6466	SO:0001819	synonymous_variant	9909	exon18			CTGCTGTTGCTGC	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.2703A>G	1.37:g.153907306T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_014856	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																			.	.	none		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153907306	T	C	153907306	2	2	15	1	0	0	0	0	0	0	0	1	4434	1722	60	2		2	DENND4B	1	153907306	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	1622962	153907306	95343315	21	3641										
CD1C	911	hgsc.bcm.edu	37	chr1	158261083	158261083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctgcataactggtccaaggGcaacttcagcaatgaagagt	10	10	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:158261083G>A	ENST00000368170.3	+	2	500	c.221G>A	c.(220-222)gGc>gAc	p.G74D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	74					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGGTCCAAGGGCAACTTCAGC	0.473																																					p.G74D		Atlas-SNP	.											CD1C,NS,carcinoma,+1,1	CD1C	100	1	0			c.G221A						scavenged	.						129	120	123					1																	158261083		2203	4300	6503	SO:0001583	missense	911	exon2			CCAAGGGCAACTT	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.221G>A	1.37:g.158261083G>A	ENSP00000357152:p.Gly74Asp	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	263	3	0.0114068	NM_001765	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	13.07	2.126748	0.37533	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07688	3.17	3.52	0.21	0.15231	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.829560	0.09964	N	0.733069	T	0.15565	0.0375	M	0.88570	2.965	0.09310	N	1	P	0.38827	0.649	D	0.67382	0.951	T	0.40289	-0.9571	10	0.87932	D	0	.	1.6481	0.02766	0.1354:0.1985:0.4623:0.2039	.	74	P29017	CD1C_HUMAN	D	74	ENSP00000357152:G74D	ENSP00000357151:G74D	G	+	2	0	CD1C	156527707	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	0.483000	0.22292	0.054000	0.16065	-0.155000	0.13514	GGC	.	.	none		0.473	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		A	158261083	G	A	158261083	3	1	15	1	0	0	0	0	1	0	0	0	2976	1203	42	2	227	2	CD1C	1	158261083	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4353777	158261083	90989538	22	3642										
PFDN2	5202	hgsc.bcm.edu	37	chr1	161071920	161071920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctccaaccatgcggtagcacTtacgagtttcatctacctcc	6	15	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:161071920T>G	ENST00000368010.3	-	3	290	c.206A>C	c.(205-207)aAg>aCg	p.K69T	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	69					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGGTAGCACTTACGAGTTTC	0.517																																					p.K69T		Atlas-SNP	.											.	PFDN2	10	.	0			c.A206C						PASS	.						134	116	122					1																	161071920		2203	4300	6503	SO:0001583	missense	5202	exon3			TAGCACTTACGAG	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"prefoldin 2"			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.206A>C	1.37:g.161071920T>G	ENSP00000356989:p.Lys69Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	123	9	0.0731707	NM_012394	Q9P0P7|Q9UN05	Missense_Mutation	SNP	ENST00000368010.3	37	CCDS1217.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994360	0.74703	.	.	ENSG00000143256	ENST00000368010	T	0.48522	0.81	5.15	2.82	0.32997	Prefoldin beta-like (1);Prefoldin (1);	0.088219	0.85682	D	0.000000	T	0.53190	0.1781	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.56571	-0.7957	10	0.59425	D	0.04	-14.807	8.0692	0.30678	0.0:0.1676:0.0:0.8324	.	69	Q9UHV9	PFD2_HUMAN	T	69	ENSP00000356989:K69T	ENSP00000356989:K69T	K	-	2	0	PFDN2	159338544	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.467000	0.35321	0.423000	0.26033	0.459000	0.35465	AAG	.	.	none		0.517	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1	NM_012394		G	161071920	T	G	161071920	3	3	15	1	0	0	0	0	1	0	0	0	11756	1609	56	5	266	5	PFDN2	1	161071920	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2810837	161071920	88178701	23	3643										
CFH	3075	hgsc.bcm.edu	37	chr1	196648799	196648799	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ataaatggatctcctatatcTcagaagattatttataagga	6	5	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:196648799T>C	ENST00000359637.2	+	5	536	c.474T>C	c.(472-474)tcT>tcC	p.S158S	CFH_ENST00000367429.4_Silent_p.S222S|CFH_ENST00000439155.2_Silent_p.S222S			P08603	CFAH_HUMAN	complement factor H	222	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCCTATATCTCAGAAGATTA	0.308																																					p.S222S		Atlas-SNP	.											.	CFH	251	.	0			c.T666C						PASS	.						54	58	57					1																	196648799		2203	4297	6500	SO:0001819	synonymous_variant	3075	exon6			TATATCTCAGAAG	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.474T>C	1.37:g.196648799T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	29	0.329545	NM_001014975	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37																																																																																				.	.	none		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		C	196648799	T	C	196648799	2	2	15	1	0	0	0	0	0	0	0	1	3283	1538	54	3		3	CFH	1	196648799	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	35576879	196648799	52601822	24	3644										
LMOD1	25802	hgsc.bcm.edu	37	chr1	201869208	201869208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aatatgctgggagctgcctcCtcctccaccttggccggtcc	10	16	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:201869208C>T	ENST00000367288.4	-	2	1179	c.933G>A	c.(931-933)gaG>gaA	p.E311E	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537																																					p.E311E		Atlas-SNP	.											LMOD1,caecum,carcinoma,-2,3	LMOD1	59	3	0			c.G933A						scavenged	.						68	68	68					1																	201869208		2053	4196	6249	SO:0001819	synonymous_variant	25802	exon2			TGCCTCCTCCTCC	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.933G>A	1.37:g.201869208C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_012134	B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	CCDS53457.1																																																																																			.	.	none		0.537	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			T	201869208	C	T	201869208	2	4	15	1	0	0	0	0	0	0	0	1	8856	680	24	2		2	LMOD1	1	201869208	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	5220409	201869208	47381413	25	3645										
BTG2	7832	hgsc.bcm.edu	37	chr1	203276256	203276256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctacaaacaccactggtttcCcgaaaagccgtccaagggct	8	14	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:203276256C>T	ENST00000290551.4	+	2	238	c.167C>T	c.(166-168)cCc>cTc	p.P56L	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	56					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CACTGGTTTCCCGAAAAGCCG	0.592																																					p.P56L		Atlas-SNP	.											.	BTG2	16	.	0			c.C167T						PASS	.						41	43	43					1																	203276256		2203	4300	6503	SO:0001583	missense	7832	exon2			GGTTTCCCGAAAA		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.167C>T	1.37:g.203276256C>T	ENSP00000290551:p.Pro56Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	106	40	0.377358	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836232	0.71373	.	.	ENSG00000159388	ENST00000290551	T	0.31510	1.49	4.53	2.64	0.31445	Anti-proliferative protein (4);	0.073067	0.53938	D	0.000041	T	0.58047	0.2095	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61004	-0.7150	10	0.87932	D	0	-46.4298	8.7979	0.34890	0.0:0.7636:0.1512:0.0852	.	56	P78543	BTG2_HUMAN	L	56	ENSP00000290551:P56L	ENSP00000290551:P56L	P	+	2	0	BTG2	201542879	1.000000	0.71417	0.819000	0.32651	0.843000	0.47879	5.614000	0.67695	0.527000	0.28560	0.313000	0.20887	CCC	.	.	none		0.592	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		T	203276256	C	T	203276256	3	4	15	1	0	0	0	0	1	0	0	0	1554	623	22	2	173	2	BTG2	1	203276256	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1407048	203276256	45974365	26	3646										
ATP2B4	493	hgsc.bcm.edu	37	chr1	203680025	203680025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtgtaatcgaatcctggaccGgaaaggggaagcagtgccat	14	8	0	0	rs200815867		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:203680025G>A	ENST00000357681.5	+	12	2943	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	ATP2B4_ENST00000341360.2_Missense_Mutation_p.R607Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R607Q|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R607Q|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R595Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	607					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCCTGGACCGGAAAGGGGAA	0.498																																					p.R607Q		Atlas-SNP	.											ATP2B4_ENST00000367218,bladder,carcinoma,-1,2	ATP2B4	226	2	0			c.G1820A						scavenged	.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	61	49	53		1820,1820	1.6	0.8	1		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B4	NM_001684.4,NM_001001396.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	607/1206,607/1171	203680025	1,13005	2203	4300	6503	SO:0001583	missense	493	exon12			TGGACCGGAAAGG	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1820G>A	1.37:g.203680025G>A	ENSP00000350310:p.Arg607Gln	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084608	0.36758	0.0	1.16E-4	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.09;-3.11	5.33	1.6	0.23607	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.749574	0.12240	N	0.486657	T	0.81692	0.4876	N	0.12182	0.205	0.21861	N	0.999508	B;B;B	0.29270	0.24;0.006;0.016	B;B;B	0.28232	0.087;0.011;0.009	T	0.66701	-0.5857	10	0.14252	T	0.57	-10.6071	9.9321	0.41528	0.8019:0.0:0.1981:0.0	.	607;607;607	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Q	607;607;595;607;607	ENSP00000350310:R607Q;ENSP00000356187:R607Q;ENSP00000356188:R595Q;ENSP00000375816:R607Q;ENSP00000340930:R607Q	ENSP00000340930:R607Q	R	+	2	0	ATP2B4	201946648	0.899000	0.30636	0.837000	0.33122	0.759000	0.43091	2.024000	0.41049	0.416000	0.25844	-1.040000	0.02373	CGG	G|0.999;A|0.001	0.001	weak		0.498	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		A	203680025	G	A	203680025	3	1	15	1	0	0	0	0	1	0	0	0	1142	1116	39	1	1862	1	ATP2B4	1	203680025	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	403769	203680025	45570596	27	3647										
FCAMR	83953	hgsc.bcm.edu	37	chr1	207140994	207140994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tctcttcctctcctcaccacTtcctgtttgcagaaggggaa	7	14	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:207140994T>C	ENST00000324852.4	-	2	516	c.42A>G	c.(40-42)gaA>gaG	p.E14E	FCAMR_ENST00000400962.3_Silent_p.E14E|FCAMR_ENST00000450945.2_Silent_p.E14E	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	315					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCCTCACCACTTCCTGTTTGC	0.428																																					p.E14E	Ovarian(199;1883 2142 16966 44409 45154)	Atlas-SNP	.											.	FCAMR	125	.	0			c.A42G						PASS	.						169	143	151					1																	207140994		1568	3582	5150	SO:0001819	synonymous_variant	83953	exon2			CACCACTTCCTGT	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.42A>G	1.37:g.207140994T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	139	6	0.0431655	NM_001170631	Q32M82|Q8WWV5|Q96SA2	Silent	SNP	ENST00000324852.4	37	CCDS53468.1																																																																																			.	.	none		0.428	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		C	207140994	T	C	207140994	2	2	15	1	0	0	0	0	0	0	0	1	5772	1606	56	3		3	FCAMR	1	207140994	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	3460969	207140994	42109627	28	3648										
CR1L	1379	hgsc.bcm.edu	37	chr1	207871000	207871000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcacaccccagggagactggAgccctgcagcccccagatgt	12	16	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:207871000A>G	ENST00000508064.2	+	6	1075	c.1015A>G	c.(1015-1017)Agc>Ggc	p.S339G	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	339	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGAGACTGGAGCCCTGCAGC	0.512																																					p.S339G		Atlas-SNP	.											CR1L_ENST00000508064,NS,carcinoma,-2,4	CR1L	97	4	0			c.A1015G						scavenged	.						176	175	175					1																	207871000		1911	4128	6039	SO:0001583	missense	1379	exon6			GACTGGAGCCCTG	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1015A>G	1.37:g.207871000A>G	ENSP00000421736:p.Ser339Gly	Somatic	471	2	0.00424628		WXS	Illumina HiSeq	Phase_I	438	5	0.0114155	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	12.53	1.966724	0.34659	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.69040	-0.37	2.44	2.44	0.29823	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.78253	0.4254	H	0.94582	3.555	0.26329	N	0.977544	P	0.50943	0.94	P	0.50162	0.633	T	0.70464	-0.4864	9	0.66056	D	0.02	.	6.7062	0.23252	1.0:0.0:0.0:0.0	.	339	Q2VPA4	CR1L_HUMAN	G	339	ENSP00000421736:S339G	ENSP00000434864:S283G	S	+	1	0	CR1L	205937623	1.000000	0.71417	0.902000	0.35471	0.284000	0.27059	3.655000	0.54460	1.113000	0.41760	0.248000	0.18094	AGC	.	.	none		0.512	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		G	207871000	A	G	207871000	3	3	15	1	0	0	0	0	1	0	0	0	3841	304	11	3	1037	3	CR1L	1	207871000	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	730006	207871000	41379621	29	3649										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208216497	208216497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccaggtaagggattcctgagCggtccaggtcactggtcaac	13	11	2	1	rs572241200		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:208216497C>T	ENST00000367033.3	-	21	4683	c.3926G>A	c.(3925-3927)cGc>cAc	p.R1309H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1309					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GATTCCTGAGCGGTCCAGGTC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19355	0.001		0.0	False		,,,				2504	0.0				p.R1309H		Atlas-SNP	.											PLXNA2,NS,carcinoma,0,1	PLXNA2	178	1	0			c.G3926A						PASS	.						94	89	91					1																	208216497		2203	4300	6503	SO:0001583	missense	5362	exon21			CCTGAGCGGTCCA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3926G>A	1.37:g.208216497C>T	ENSP00000356000:p.Arg1309His	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	117	38	0.324786	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774387	0.96922	.	.	ENSG00000076356	ENST00000367033	T	0.00932	5.53	5.42	5.42	0.78866	.	0.048395	0.85682	D	0.000000	T	0.01835	0.0058	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	P	0.50970	0.655	T	0.70963	-0.4729	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	1309	O75051	PLXA2_HUMAN	H	1309	ENSP00000356000:R1309H	ENSP00000356000:R1309H	R	-	2	0	PLXNA2	206283120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.454000	0.80714	2.543000	0.85770	0.650000	0.86243	CGC	.	.	none		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208216497	C	T	208216497	3	4	15	1	0	0	0	0	1	0	0	0	12120	768	27	1	1806	1	PLXNA2	1	208216497	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	345497	208216497	41034124	30	3650										
USH2A	7399	hgsc.bcm.edu	37	chr1	215972275	215972275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcgattgtacaccactcctTcttctccaccacaacactct	4	17	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:215972275T>C	ENST00000307340.3	-	50	10318	c.9932A>G	c.(9931-9933)gAa>gGa	p.E3311G	USH2A_ENST00000366943.2_Missense_Mutation_p.E3311G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3311					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCACTCCTTCTTCTCCACC	0.502										HNSCC(13;0.011)																											p.E3311G		Atlas-SNP	.											USH2A,NS,carcinoma,+1,1	USH2A	1168	1	0			c.A9932G						scavenged	.						177	150	159					1																	215972275		2203	4300	6503	SO:0001583	missense	7399	exon50			ACTCCTTCTTCTC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9932A>G	1.37:g.215972275T>C	ENSP00000305941:p.Glu3311Gly	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	144	2	0.0138889	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846751	0.51164	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.15603	2.42;2.41	5.81	3.41	0.39046	Fibronectin, type III (2);	0.152498	0.30076	N	0.010479	T	0.27594	0.0678	M	0.72118	2.19	0.29017	N	0.886542	D	0.53619	0.961	P	0.49637	0.617	T	0.11867	-1.0570	10	0.54805	T	0.06	.	11.1989	0.48730	0.2325:0.0:0.0:0.7675	.	3311	O75445	USH2A_HUMAN	G	3311	ENSP00000305941:E3311G;ENSP00000355910:E3311G	ENSP00000305941:E3311G	E	-	2	0	USH2A	214038898	0.660000	0.27420	0.035000	0.18076	0.933000	0.57130	2.742000	0.47434	0.410000	0.25675	0.533000	0.62120	GAA	.	.	none		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215972275	T	C	215972275	3	2	15	1	0	0	0	0	1	0	0	0	17033	1783	62	2	5768	2	USH2A	1	215972275	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	7755778	215972275	33278346	31	3651										
USH2A	7399	hgsc.bcm.edu	37	chr1	216495278	216495278	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaggcatctatatggctggcTtgttgtgtcgcagttatcgg	14	7	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:216495278T>G	ENST00000307340.3	-	9	1977	c.1591A>C	c.(1591-1593)Agc>Cgc	p.S531R	USH2A_ENST00000366943.2_Missense_Mutation_p.S531R|USH2A_ENST00000366942.3_Missense_Mutation_p.S531R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	531	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGGCTGGCTTGTTGTGTCG	0.413										HNSCC(13;0.011)																											p.S531R		Atlas-SNP	.											.	USH2A	1168	.	0			c.A1591C						PASS	.						145	133	137					1																	216495278		2203	4300	6503	SO:0001583	missense	7399	exon9			GCTGGCTTGTTGT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1591A>C	1.37:g.216495278T>G	ENSP00000305941:p.Ser531Arg	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	151	9	0.0596026	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	6.897	0.535088	0.13188	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	2.07	0.26955	EGF-like, laminin (3);	0.596017	0.14863	N	0.293961	T	0.45994	0.1370	L	0.33189	0.99	0.09310	N	1	B;B	0.15473	0.012;0.013	B;B	0.17433	0.005;0.018	T	0.27872	-1.0061	10	0.15952	T	0.53	.	8.4255	0.32727	0.0:0.2872:0.0:0.7128	.	531;531	O75445-2;O75445	.;USH2A_HUMAN	R	531	ENSP00000305941:S531R;ENSP00000355910:S531R;ENSP00000355909:S531R	ENSP00000305941:S531R	S	-	1	0	USH2A	214561901	0.000000	0.05858	0.024000	0.17045	0.041000	0.13682	0.201000	0.17276	0.097000	0.17492	0.455000	0.32223	AGC	.	.	none		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216495278	T	G	216495278	3	3	15	1	0	0	0	0	1	0	0	0	17033	1609	56	5	14287	5	USH2A	1	216495278	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	523003	216495278	32755343	32	3652										
OR2W5	441932	hgsc.bcm.edu	37	chr1	247654916	247654916	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccttcatcatgtgtcctcagAcgatgcagctctcccggtgt	9	14	4	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:247654916A>G	ENST00000522351.1	+	0	547							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTGTCCTCAGACGATGCAGCT	0.562																																					p.T163A		Atlas-SNP	.											OR2W5,NS,adenocarcinoma,-2,1	OR2W5	97	1	0			c.A487G						scavenged	.						119	94	103					1																	247654916		2203	4300	6503			441932	exon1			CCTCAGACGATGC			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654916A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	124	4	0.0322581	NM_001004698	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																				.	.	none		0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		G	247654916	A	G	247654916	1	3	15	0	1	0	0	0	0	0	0	0	11034	275	10	2		2	OR2W5	1	247654916	RNA	SNP	A	TCGA-FF-8061-01A-11D-2210-10	31159638	247654916	1595705	33	3653										
OR2M5	127059	hgsc.bcm.edu	37	chr1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tactaatcctctcatgcaatGacacatcaatatttgaaaag	4	9	2	2	rs139290187	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		Atlas-SNP	.											OR2M5,NS,carcinoma,0,2	OR2M5	117	2	0			c.G571A						scavenged	.						284	272	276					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	Somatic	295	4	0.0135593		WXS	Illumina HiSeq	Phase_I	329	5	0.0151976	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.996;A|0.004	0.004	strong		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309020	G	A	248309020	3	1	15	1	0	0	0	0	1	0	0	0	11013	1290	45	2	573	2	OR2M5	1	248309020	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	654104	248309020	941601	34	3654										
SH3YL1	26751	hgsc.bcm.edu	37	chr2	218939	218939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tccagcttgaaaattcaaatCcccaggctgctgtccttcaa	6	13	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:218939C>T	ENST00000405430.1	-	12	1277	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SH3YL1_ENST00000403658.1_Missense_Mutation_p.D186N|SH3YL1_ENST00000403657.1_Missense_Mutation_p.D186N|SH3YL1_ENST00000415006.2_Missense_Mutation_p.D205N|SH3YL1_ENST00000403712.2_Missense_Mutation_p.D282N|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000356150.5_Missense_Mutation_p.D301N			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	301	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		AAATTCAAATCCCCAGGCTGC	0.373																																					p.D301N		Atlas-SNP	.											.	SH3YL1	49	.	0			c.G901A						PASS	.						102	93	96					2																	218939		1826	4079	5905	SO:0001583	missense	26751	exon10			TCAAATCCCCAGG		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.901G>A	2.37:g.218939C>T	ENSP00000384269:p.Asp301Asn	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	94	43	0.457447	NM_015677	A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.170694	0.94807	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	6.03	6.03	0.97812	Src homology-3 domain (5);	0.108509	0.64402	D	0.000010	T	0.81969	0.4935	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;0.998	D	0.88284	0.2938	10	0.87932	D	0	-11.8105	18.0605	0.89375	0.0:1.0:0.0:0.0	.	186;282;301;205	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	N	205;282;186;301;301;186;214	ENSP00000404143:D205N;ENSP00000384276:D282N;ENSP00000385668:D186N;ENSP00000384269:D301N;ENSP00000348471:D301N;ENSP00000383928:D186N;ENSP00000416312:D214N	ENSP00000348471:D301N	D	-	1	0	SH3YL1	208939	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	6.441000	0.73439	2.854000	0.98071	0.655000	0.94253	GAT	.	.	none		0.373	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		T	218939	C	T	218939	3	4	15	1	0	0	0	0	1	0	0	0	14263	855	30	2	131	2	SH3YL1	2	218939	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		218939	242980434	35	3655										
ADAM17	6868	hgsc.bcm.edu	37	chr2	9666322	9666322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctaccaccaataatttacacGtgttcttcatgggatctggg	8	10	3	0	rs548923032		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:9666322G>A	ENST00000310823.3	-	6	853	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ADAM17_ENST00000497134.1_Missense_Mutation_p.T224M	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	224	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TAATTTACACGTGTTCTTCAT	0.373																																					p.T224M		Atlas-SNP	.											ADAM17,NS,carcinoma,+1,1	ADAM17	61	1	0			c.C671T						scavenged	.						212	189	197					2																	9666322		2203	4300	6503	SO:0001583	missense	6868	exon6			TTACACGTGTTCT	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.671C>T	2.37:g.9666322G>A	ENSP00000309968:p.Thr224Met	Somatic	146	2	0.0136986		WXS	Illumina HiSeq	Phase_I	149	4	0.0268456	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963245	0.92791	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	D;D	0.87491	-2.26;-2.26	5.46	5.46	0.80206	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.94295	0.7532	10	0.59425	D	0.04	.	19.6783	0.95946	0.0:0.0:1.0:0.0	.	224;224	B2RNB2;P78536	.;ADA17_HUMAN	M	224	ENSP00000309968:T224M;ENSP00000418728:T224M	ENSP00000309968:T224M	T	-	2	0	ADAM17	9583773	1.000000	0.71417	0.985000	0.45067	0.976000	0.68499	9.306000	0.96204	2.724000	0.93272	0.585000	0.79938	ACG	.	.	none		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			A	9666322	G	A	9666322	3	1	15	1	0	0	0	0	1	0	0	0	238	1145	40	1	1859	1	ADAM17	2	9666322	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	9447383	9666322	233533051	36	3656										
FSHR	2492	hgsc.bcm.edu	37	chr2	49190483	49190483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgcaaaagcaaaaatccagcCcatcaccatgacactggcag	7	13	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:49190483C>T	ENST00000406846.2	-	10	1596	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	FSHR_ENST00000346173.3_Missense_Mutation_p.G431S|FSHR_ENST00000304421.4_Missense_Mutation_p.G467S|FSHR_ENST00000541117.1_Missense_Mutation_p.G229S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	493					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAAATCCAGCCCATCACCATG	0.527									Gonadal Dysgenesis, 46 XX																												p.G493S		Atlas-SNP	.											FSHR,NS,carcinoma,+2,1	FSHR	164	1	0			c.G1477A						scavenged	.						63	51	55					2																	49190483		2203	4300	6503	SO:0001583	missense	2492	exon10	Familial Cancer Database		TCCAGCCCATCAC		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1477G>A	2.37:g.49190483C>T	ENSP00000384708:p.Gly493Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	111	3	0.027027	NM_000145	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251927	0.80135	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91210	0.4998	9	.	.	.	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	467;431;493	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	S	493;431;467;229	ENSP00000384708:G493S;ENSP00000333908:G431S;ENSP00000306780:G467S;ENSP00000444172:G229S	.	G	-	1	0	FSHR	49043987	1.000000	0.71417	0.982000	0.44146	0.688000	0.40055	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	GGC	.	.	none		0.527	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			T	49190483	C	T	49190483	3	4	15	1	0	0	0	0	1	0	0	0	6073	623	22	2	614	2	FSHR	2	49190483	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	39524161	49190483	194008890	37	3657										
FAM161A	84140	hgsc.bcm.edu	37	chr2	62066790	62066790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atggtttacacactgttaagAgttttggagacttgtgttct	10	5	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:62066790A>G	ENST00000405894.3	-	3	1450	c.1349T>C	c.(1348-1350)cTc>cCc	p.L450P	FAM161A_ENST00000404929.1_Missense_Mutation_p.L450P	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	450					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTGTTAAGAGTTTTGGAGA	0.383																																					p.L450P		Atlas-SNP	.											FAM161A_ENST00000405894,NS,carcinoma,0,3	FAM161A	200	3	0			c.T1349C						scavenged	.						130	114	119					2																	62066790		1853	4101	5954	SO:0001583	missense	84140	exon3			GTTAAGAGTTTTG		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1349T>C	2.37:g.62066790A>G	ENSP00000385893:p.Leu450Pro	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	244	3	0.0122951	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	9.607	1.130264	0.21041	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.20200	2.09;2.09	5.19	-3.94	0.04130	.	1.201580	0.05653	N	0.585606	T	0.10852	0.0265	N	0.25144	0.715	0.20563	N	0.999888	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.31971	-0.9924	10	0.22706	T	0.39	-18.0229	2.5132	0.04661	0.1689:0.141:0.4287:0.2614	.	450;450	Q3B820;Q3B820-3	F161A_HUMAN;.	P	450	ENSP00000385158:L450P;ENSP00000385893:L450P	ENSP00000385158:L450P	L	-	2	0	FAM161A	61920294	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.028000	0.13644	-0.499000	0.06623	0.519000	0.50382	CTC	.	.	none		0.383	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		G	62066790	A	G	62066790	3	3	15	1	0	0	0	0	1	0	0	0	5472	304	11	3	649	3	FAM161A	2	62066790	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	12876307	62066790	181132583	38	3658										
AUP1	27429	hgsc.bcm.edu	37	chr2	74756500	74756500	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgtcggaacctgcgaaggacGctgtctggcagcgcgcagct	15	13	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:74756500G>A	ENST00000258080.3	+	0	0				AUP1_ENST00000377526.3_Silent_p.S59S|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGCGAAGGACGCTGTCTGGCA	0.652																																					p.S59S		Atlas-SNP	.											.	AUP1	29	.	0			c.C177T						PASS	.						21	28	26					2																	74756500		2101	4228	6329	SO:0001631	upstream_gene_variant	550	exon2			AAGGACGCTGTCT		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957		2.37:g.74756500G>A	Exception_encountered	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	77	57	0.74026	NM_181575	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	CCDS1951.1																																																																																			.	.	none		0.652	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		A	74756500	G	A	74756500	1	1	15	0	1	0	0	0	0	0	0	0	1220	1078	38	1		1	AUP1	2	74756500	5'Flank	SNP	G	TCGA-FF-8061-01A-11D-2210-10	12689710	74756500	168442873	39	3659										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84785000	84785000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaacctgtggaactgggccaAgtttagcagcagtatttgag	12	7	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:84785000A>G	ENST00000237449.6	+	10	1752	c.1744A>G	c.(1744-1746)Agt>Ggt	p.S582G	DNAH6_ENST00000389394.3_Missense_Mutation_p.S582G|DNAH6_ENST00000398278.2_Missense_Mutation_p.S582G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	582	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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACTGGGCCAAGTTTAGCAGC	0.338																																					p.S582G		Atlas-SNP	.											.	DNAH6	194	.	0			c.A1744G						PASS	.						90	89	89					2																	84785000		2203	4300	6503	SO:0001583	missense	1768	exon11			GGGCCAAGTTTAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1744A>G	2.37:g.84785000A>G	ENSP00000237449:p.Ser582Gly	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	51	18	0.352941	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675857	0.29783	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25749	1.78;1.91;1.78	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000007	T	0.30479	0.0766	M	0.61703	1.905	0.23920	N	0.996469	B;P	0.38827	0.0;0.649	B;B	0.41510	0.0;0.359	T	0.16837	-1.0389	10	0.25106	T	0.35	.	13.8456	0.63466	1.0:0.0:0.0:0.0	.	582;161	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	G	582	ENSP00000374045:S582G;ENSP00000381326:S582G;ENSP00000237449:S582G	ENSP00000237449:S582G	S	+	1	0	DNAH6	84638511	1.000000	0.71417	0.627000	0.29227	0.457000	0.32468	5.904000	0.69886	1.914000	0.55421	0.459000	0.35465	AGT	.	.	none		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84785000	A	G	84785000	3	3	15	1	0	0	0	0	1	0	0	0	4605	72	3	3	1782	3	DNAH6	2	84785000	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	10028500	84785000	158414373	40	3660										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96809900	96809900	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggtgcccccttaccaatgaaGcctatggcctcctggaacca	9	15	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:96809900G>C	ENST00000288943.4	-	3	808	c.723C>G	c.(721-723)ggC>ggG	p.G241G	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	241	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				TACCAATGAAGCCTATGGCCT	0.592																																					p.G241G		Atlas-SNP	.											DUSP2,NS,lymphoid_neoplasm,-1,1	DUSP2	20	1	0			c.C723G						PASS	.						66	58	61					2																	96809900		2203	4300	6503	SO:0001819	synonymous_variant	1844	exon3			AATGAAGCCTATG	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.723C>G	2.37:g.96809900G>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	60	25	0.416667	NM_004418	Q53T45	Silent	SNP	ENST00000288943.4	37	CCDS2016.1																																																																																			.	.	none		0.592	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		C	96809900	G	C	96809900	2	2	15	1	0	0	0	0	0	0	0	1	4819	958	34	4		4	DUSP2	2	96809900	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	12024900	96809900	146389473	41	3661										
DUSP2	1844	hgsc.bcm.edu	37	chr2	96810590	96810590	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggggcctcagagcacagatcGggacagcagccctggaagcc	15	13	1	2	rs187607778		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:96810590G>C	ENST00000288943.4	-	2	505	c.420C>G	c.(418-420)ccC>ccG	p.P140P	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	140	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				AGCACAGATCGGGACAGCAGC	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		10971	0.0		0.0	False		,,,				2504	0.0				p.P140P		Atlas-SNP	.											DUSP2,NS,carcinoma,0,1	DUSP2	20	1	0			c.C420G						PASS	.						15	20	18					2																	96810590		2129	4223	6352	SO:0001819	synonymous_variant	1844	exon2			CAGATCGGGACAG	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.420C>G	2.37:g.96810590G>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_004418	Q53T45	Silent	SNP	ENST00000288943.4	37	CCDS2016.1																																																																																			C|0.000;G|1.000	0.000	strong		0.672	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		C	96810590	G	C	96810590	2	2	15	1	0	0	0	0	0	0	0	1	4819	1103	39	4		4	DUSP2	2	96810590	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	690	96810590	146388783	42	3662										
ZAP70	7535	hgsc.bcm.edu	37	chr2	98340878	98340878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acgccatggtgcgtgactacGtgcgccagacgtggaagctg	15	11	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:98340878G>A	ENST00000264972.5	+	3	594	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	127	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCGTGACTACGTGCGCCAGAC	0.706																																					p.V127M		Atlas-SNP	.											.	ZAP70	77	.	0			c.G379A						PASS	.						5	6	6					2																	98340878		2020	4011	6031	SO:0001583	missense	7535	exon3			GACTACGTGCGCC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.379G>A	2.37:g.98340878G>A	ENSP00000264972:p.Val127Met	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	30	16	0.533333	NM_001079	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687188	0.88639	.	.	ENSG00000115085	ENST00000264972	T	0.26660	1.72	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.308316	0.22701	N	0.056684	T	0.43765	0.1262	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.58928	0.848;0.836	T	0.38178	-0.9673	10	0.72032	D	0.01	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	127;127	B4E0E2;P43403	.;ZAP70_HUMAN	M	127	ENSP00000264972:V127M	ENSP00000264972:V127M	V	+	1	0	ZAP70	97707310	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.289000	0.72696	2.449000	0.82847	0.467000	0.42956	GTG	.	.	none		0.706	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98340878	G	A	98340878	3	1	15	1	0	0	0	0	1	0	0	0	17511	1145	40	1	381	1	ZAP70	2	98340878	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1530288	98340878	144858495	43	3663										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107052698	107052698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tctcaattttgctgagtttcCaggtctaaaaaatagttcaa	6	7	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:107052698C>T	ENST00000409886.3	-	12	1726	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	RGPD3_ENST00000304514.7_Missense_Mutation_p.G547R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	547					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTGAGTTTCCAGGTCTAAAA	0.358																																					p.G547R		Atlas-SNP	.											RGPD3_ENST00000304514,NS,carcinoma,+1,2	RGPD3	316	2	0			c.G1639A						scavenged	.						45	31	35					2																	107052698		692	1591	2283	SO:0001583	missense	653489	exon12			AGTTTCCAGGTCT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1639G>A	2.37:g.107052698C>T	ENSP00000386588:p.Gly547Arg	Somatic	455	0	0		WXS	Illumina HiSeq	Phase_I	424	4	0.00943396	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234614	0.39498	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.57907	0.37;0.37	2.52	2.52	0.30459	.	.	.	.	.	T	0.63792	0.2541	L	0.59436	1.845	0.31583	N	0.654808	D	0.62365	0.991	D	0.63597	0.916	T	0.66340	-0.5948	9	0.51188	T	0.08	-24.5628	10.7924	0.46440	0.0:1.0:0.0:0.0	.	547	A6NKT7	RGPD3_HUMAN	R	547;305;547	ENSP00000386588:G547R;ENSP00000303659:G547R	ENSP00000303659:G547R	G	-	1	0	RGPD3	106419130	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.755000	0.62198	1.430000	0.47334	0.186000	0.17326	GGA	.	.	none		0.358	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		T	107052698	C	T	107052698	3	4	15	1	0	0	0	0	1	0	0	0	13287	603	21	2	3685	2	RGPD3	2	107052698	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	8711820	107052698	136146675	44	3664										
GCC2	9648	hgsc.bcm.edu	37	chr2	109103005	109103005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acatcagagaagcacaaaatCcacgagcacctgaaaacctc	6	13	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:109103005C>T	ENST00000309863.6	+	16	4545	c.3831C>T	c.(3829-3831)atC>atT	p.I1277I		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1277					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGCACAAAATCCACGAGCACC	0.458																																					p.I1277I		Atlas-SNP	.											GCC2,NS,carcinoma,+2,1	GCC2	129	1	0			c.C3831T						scavenged	.						120	117	118					2																	109103005		2203	4300	6503	SO:0001819	synonymous_variant	9648	exon16			CAAAATCCACGAG	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3831C>T	2.37:g.109103005C>T		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	188	3	0.0159574	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																			.	.	none		0.458	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109103005	C	T	109103005	2	4	15	1	0	0	0	0	0	0	0	1	6286	845	30	2		2	GCC2	2	109103005	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2050307	109103005	134096368	45	3665										
IWS1	55677	hgsc.bcm.edu	37	chr2	128263223	128263223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtccttttgcctgtgaagctCctcactttcagagtcactag	8	12	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:128263223C>T	ENST00000295321.4	-	3	515	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.E93K|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	86	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTGAAGCTCCTCACTTTCA	0.483																																					p.E86K		Atlas-SNP	.											.	IWS1	61	.	0			c.G256A						PASS	.						168	169	168					2																	128263223		2203	4300	6503	SO:0001583	missense	55677	exon3			GAAGCTCCTCACT	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.256G>A	2.37:g.128263223C>T	ENSP00000295321:p.Glu86Lys	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	175	55	0.314286	NM_017969	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901973	0.52227	.	.	ENSG00000163166	ENST00000295321;ENST00000455721;ENST00000409725	T;T	0.33438	1.46;1.41	5.4	5.4	0.78164	.	0.301427	0.32608	N	0.005872	T	0.30916	0.0780	L	0.58101	1.795	0.25294	N	0.98934	B	0.21606	0.058	B	0.12837	0.008	T	0.13282	-1.0515	10	0.19590	T	0.45	-3.4505	16.0792	0.80989	0.0:1.0:0.0:0.0	.	86	Q96ST2	IWS1_HUMAN	K	86;93;91	ENSP00000295321:E86K;ENSP00000399245:E93K	ENSP00000295321:E86K	E	-	1	0	IWS1	127979693	0.993000	0.37304	1.000000	0.80357	0.869000	0.49853	3.916000	0.56416	2.524000	0.85096	0.491000	0.48974	GAG	.	.	none		0.483	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		T	128263223	C	T	128263223	3	4	15	1	0	0	0	0	1	0	0	0	7931	864	30	2	2251	2	IWS1	2	128263223	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	19160218	128263223	114936150	46	3666										
POTEF	728378	hgsc.bcm.edu	37	chr2	130877802	130877802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agcaccacttgcccatcttgTtcctgagtgtcttcatagca	7	13	3	1	rs574377005		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:130877802T>C	ENST00000409914.2	-	3	686	c.287A>G	c.(286-288)aAc>aGc	p.N96S	POTEF_ENST00000361163.4_Missense_Mutation_p.N96S|POTEF_ENST00000360967.5_Missense_Mutation_p.N96S|POTEF_ENST00000357462.5_Missense_Mutation_p.N96S	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCCCATCTTGTTCCTGAGTGT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		22288	0.0		0.0	False		,,,				2504	0.0				p.N96S		Atlas-SNP	.											POTEF,NS,carcinoma,0,6	POTEF	140	6	0			c.A287G						scavenged	.						105	129	120					2																	130877802		2203	4296	6499	SO:0001583	missense	728378	exon3			ATCTTGTTCCTGA	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.287A>G	2.37:g.130877802T>C	ENSP00000386786:p.Asn96Ser	Somatic	226	3	0.0132743		WXS	Illumina HiSeq	Phase_I	238	5	0.0210084	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.487228	0.00161	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.75154	-0.91;-0.91;1.92;1.97	0.562	-1.07	0.09968	.	.	.	.	.	T	0.28896	0.0717	N	0.00268	-1.735	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40270	-0.9572	8	0.02654	T	1	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	S	96	ENSP00000350052:N96S;ENSP00000386786:N96S;ENSP00000354232:N96S;ENSP00000355012:N96S	ENSP00000350052:N96S	N	-	2	0	POTEF	130594272	0.003000	0.15002	0.082000	0.20525	0.089000	0.18198	0.016000	0.13377	-0.316000	0.08690	0.063000	0.15292	AAC	.	.	none		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130877802	T	C	130877802	3	2	15	1	0	0	0	0	1	0	0	0	12265	1725	60	2	3000	2	POTEF	2	130877802	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2614579	130877802	112321571	47	3667										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021475	132021475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctgaaccccaaggccaaccGcgagaagatgacccagatca	9	15	1	5	rs11546936		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:132021475G>A	ENST00000356920.5	+	15	2541	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGGCCAACCGCGAGAAGATG	0.607																																					p.R816H		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+1,2	.	.	2	0			c.G2447A						scavenged	.						78	80	79					2																	132021475		2127	4190	6317	SO:0001583	missense	445582	exon15			CCAACCGCGAGAA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2447G>A	2.37:g.132021475G>A	ENSP00000439189:p.Arg816His	Somatic	162	7	0.0432099		WXS	Illumina HiSeq	Phase_I	152	14	0.0921053	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621132	0.66787	.	.	ENSG00000188219	ENST00000356920	D	0.97066	-4.23	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98817	0.9601	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96667	0.9493	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs11546936	816	Q6S8J3	POTEE_HUMAN	H	816	ENSP00000439189:R816H	ENSP00000439189:R816H	R	+	2	0	AC131180.1	131737945	1.000000	0.71417	0.216000	0.23742	0.219000	0.24729	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC	.	.	weak		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021475	G	A	132021475	3	1	15	1	0	0	0	0	1	0	0	0	12264	1087	38	1	2505	1	POTEE	2	132021475	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1143673	132021475	111177898	48	3668										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	446	4	0.00896861		WXS	Illumina HiSeq	Phase_I	507	5	0.00986193	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	15	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	209	132021684	111177689	49	3669										
MGAT5	4249	hgsc.bcm.edu	37	chr2	135102520	135102520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaatcatgaagaaggttgtaGgaaaccgatctggctgccca	12	8	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:135102520G>A	ENST00000409645.1	+	9	1249	c.997G>A	c.(997-999)Gga>Aga	p.G333R	MGAT5_ENST00000281923.2_Missense_Mutation_p.G333R			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	333					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAAGGTTGTAGGAAACCGATC	0.378																																					p.G333R		Atlas-SNP	.											.	MGAT5	84	.	0			c.G997A						PASS	.						125	122	123					2																	135102520		2203	4300	6503	SO:0001583	missense	4249	exon8			GTTGTAGGAAACC	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.997G>A	2.37:g.135102520G>A	ENSP00000386377:p.Gly333Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	90	32	0.355556	NM_002410	D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578283	0.86645	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.38	5.38	0.77491	.	0.050300	0.85682	D	0.000000	T	0.76666	0.4019	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75428	-0.3321	9	0.46703	T	0.11	-14.1382	19.4972	0.95079	0.0:0.0:1.0:0.0	.	333	Q09328	MGT5A_HUMAN	R	333	.	ENSP00000281923:G333R	G	+	1	0	MGAT5	134818990	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.758000	0.98927	2.668000	0.90789	0.563000	0.77884	GGA	.	.	none		0.378	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		A	135102520	G	A	135102520	3	1	15	1	0	0	0	0	1	0	0	0	9548	1001	35	2	1027	2	MGAT5	2	135102520	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3080836	135102520	108096853	50	3670										
MBD5	55777	hgsc.bcm.edu	37	chr2	149227670	149227670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctcacttgagtagcaatagtAccccgggttgtggggcctca	12	11	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:149227670A>G	ENST00000407073.1	+	9	3155	c.2158A>G	c.(2158-2160)Acc>Gcc	p.T720A	MBD5_ENST00000404807.1_Missense_Mutation_p.T720A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	720					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAGCAATAGTACCCCGGGTTG	0.458																																					p.T720A		Atlas-SNP	.											MBD5,colon,carcinoma,0,1	MBD5	164	1	0			c.A2158G						scavenged	.						85	85	85					2																	149227670		2203	4300	6503	SO:0001583	missense	55777	exon9			AATAGTACCCCGG	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2158A>G	2.37:g.149227670A>G	ENSP00000386049:p.Thr720Ala	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	167	5	0.0299401	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	4.023	0.001750	0.07819	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.43294	0.95;0.96	4.96	1.08	0.20341	.	0.204795	0.33980	N	0.004368	T	0.20536	0.0494	N	0.14661	0.345	0.29100	N	0.881525	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.07616	-1.0763	10	0.39692	T	0.17	-0.0162	4.7995	0.13289	0.6503:0.0:0.1498:0.1999	.	720;720	Q9P267-2;Q9P267	.;MBD5_HUMAN	A	720	ENSP00000386049:T720A;ENSP00000384672:T720A	ENSP00000384672:T720A	T	+	1	0	MBD5	148944140	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.293000	0.19029	0.468000	0.27243	0.533000	0.62120	ACC	.	.	none		0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			G	149227670	A	G	149227670	3	3	15	1	0	0	0	0	1	0	0	0	9347	391	14	2	2172	2	MBD5	2	149227670	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	14125150	149227670	93971703	51	3671										
NEB	4703	hgsc.bcm.edu	37	chr2	152470904	152470904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcgcttacaaggatctgacaCttcttggccagcaccacccc	7	16	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:152470904C>T	ENST00000172853.10	-	73	10905	c.10758G>A	c.(10756-10758)aaG>aaA	p.K3586K	NEB_ENST00000427231.2_Silent_p.K3829K|NEB_ENST00000603639.1_Silent_p.K3829K|NEB_ENST00000409198.1_Silent_p.K3586K|NEB_ENST00000604864.1_Silent_p.K3829K|NEB_ENST00000397345.3_Silent_p.K3829K			P20929	NEBU_HUMAN	nebulin	3586					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATCTGACACTTCTTGGCCA	0.527																																					p.K3829K		Atlas-SNP	.											.	NEB	1697	.	0			c.G11487A						PASS	.						242	237	239					2																	152470904		2063	4213	6276	SO:0001819	synonymous_variant	4703	exon77			CTGACACTTCTTG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10758G>A	2.37:g.152470904C>T		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	237	94	0.396624	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				.	.	none		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152470904	C	T	152470904	2	4	15	1	0	0	0	0	0	0	0	1	10302	564	20	2		2	NEB	2	152470904	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3243234	152470904	90728469	52	3672										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167094711	167094711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aatgaagatgtaagtgaagaTcttgtctgcatactccagga	10	6	2	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:167094711T>C	ENST00000409435.1	-	19	3693	c.3694A>G	c.(3694-3696)Atc>Gtc	p.I1232V	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1221V|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1233V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1233V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1232					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGTGAAGATCTTGTCTGCA	0.333																																					p.I1221V		Atlas-SNP	.											SCN9A,NS,carcinoma,+2,1	SCN9A	296	1	0			c.A3661G						scavenged	.						49	49	49					2																	167094711		2138	4283	6421	SO:0001583	missense	6335	exon20			TGAAGATCTTGTC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3694A>G	2.37:g.167094711T>C	ENSP00000386330:p.Ile1232Val	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	244	3	0.0122951	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	3.059	-0.193687	0.06259	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.25	4.08	0.47627	.	0.000000	0.64402	D	0.000003	D	0.89670	0.6782	N	0.01493	-0.835	0.35593	D	0.807252	B	0.13594	0.008	B	0.19666	0.026	D	0.86667	0.1908	10	0.02654	T	1	.	8.0533	0.30591	0.0:0.2192:0.0:0.7808	.	1221	E7EUN6	.	V	1221;1233;1233;1232	ENSP00000386306:I1221V;ENSP00000364536:I1233V;ENSP00000304748:I1233V;ENSP00000386330:I1232V	ENSP00000304748:I1233V	I	-	1	0	SCN9A	166802957	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.300000	0.51834	1.987000	0.57996	0.533000	0.62120	ATC	.	.	none		0.333	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		C	167094711	T	C	167094711	3	2	15	1	0	0	0	0	1	0	0	0	13925	1435	50	2	2304	2	SCN9A	2	167094711	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	14623807	167094711	76104662	53	3673										
ZNF804A	91752	hgsc.bcm.edu	37	chr2	185463692	185463692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcggcggctgccccatggaGtgttactacattgtcatcag	13	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:185463692G>A	ENST00000302277.6	+	1	600	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	2							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						gcCCCATGGAGTGTTACTACA	0.657																																					p.E2E		Atlas-SNP	.											.	ZNF804A	322	.	0			c.G6A						PASS	.						61	60	60					2																	185463692		2203	4300	6503	SO:0001819	synonymous_variant	91752	exon1			CATGGAGTGTTAC	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.6G>A	2.37:g.185463692G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	45	19	0.422222	NM_194250	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																			.	.	none		0.657	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185463692	G	A	185463692	2	1	15	1	0	0	0	0	0	0	0	1	18167	1020	36	2		2	ZNF804A	2	185463692	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	18368981	185463692	57735681	54	3674										
COL3A1	1281	hgsc.bcm.edu	37	chr2	189849577	189849577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caaatatgtgtctgtgactcAggatccgttctctgcgatga	10	9	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:189849577A>G	ENST00000304636.3	+	2	341	c.171A>G	c.(169-171)tcA>tcG	p.S57S	COL3A1_ENST00000317840.5_Silent_p.S57S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	57	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCTGTGACTCAGGATCCGTTC	0.463																																					p.S57S		Atlas-SNP	.											.	COL3A1	292	.	0			c.A171G						PASS	.						168	145	153					2																	189849577		2203	4299	6502	SO:0001819	synonymous_variant	1281	exon2			TGACTCAGGATCC	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.171A>G	2.37:g.189849577A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	122	42	0.344262	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																			.	.	none		0.463	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		G	189849577	A	G	189849577	2	3	15	1	0	0	0	0	0	0	0	1	3688	175	7	3		3	COL3A1	2	189849577	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	4385885	189849577	53349796	55	3675										
ZDBF2	57683	hgsc.bcm.edu	37	chr2	207174869	207174869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaaaagtttcttcgaaggggAaaaaaaaggttacctgggct	11	5	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:207174869A>G	ENST00000374423.3	+	5	6003	c.5617A>G	c.(5617-5619)Aaa>Gaa	p.K1873E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1873							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGAAGGGGAAAAAAAAGGT	0.413																																					p.K1873E		Atlas-SNP	.											ZDBF2_ENST00000374423,caecum,carcinoma,0,2	ZDBF2	531	2	0			c.A5617G						PASS	.						58	57	57					2																	207174869		1921	4134	6055	SO:0001583	missense	57683	exon5			AAGGGGAAAAAAA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5617A>G	2.37:g.207174869A>G	ENSP00000363545:p.Lys1873Glu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	77	26	0.337662	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	4.072	0.011280	0.07912	.	.	ENSG00000204186	ENST00000374423	T	0.38887	1.11	5.48	2.13	0.27403	.	.	.	.	.	T	0.12817	0.0311	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30268	-0.9984	9	0.12766	T	0.61	.	5.7718	0.18257	0.2703:0.1494:0.5803:0.0	.	1873	Q9HCK1	ZDBF2_HUMAN	E	1873	ENSP00000363545:K1873E	ENSP00000363545:K1873E	K	+	1	0	ZDBF2	206883114	0.934000	0.31675	0.002000	0.10522	0.026000	0.11368	2.260000	0.43267	1.234000	0.43709	0.451000	0.29950	AAA	.	.	none		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207174869	A	G	207174869	3	3	15	1	0	0	0	0	1	0	0	0	17596	247	9	2	5627	2	ZDBF2	2	207174869	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	17325292	207174869	36024504	56	3676										
FN1	2335	hgsc.bcm.edu	37	chr2	216289966	216289966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaggctgggggtgaggctgcGgttggtaaacagctgcacga	19	7	0	1	rs145123731	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:216289966G>A	ENST00000359671.1	-	7	1152	c.887C>T	c.(886-888)cCg>cTg	p.P296L	FN1_ENST00000346544.3_Missense_Mutation_p.P296L|FN1_ENST00000421182.1_Missense_Mutation_p.P296L|FN1_ENST00000426059.1_Missense_Mutation_p.P296L|FN1_ENST00000345488.5_Missense_Mutation_p.P296L|FN1_ENST00000357867.4_Missense_Mutation_p.P296L|FN1_ENST00000446046.1_Missense_Mutation_p.P296L|FN1_ENST00000357009.2_Missense_Mutation_p.P296L|FN1_ENST00000443816.1_Missense_Mutation_p.P296L|FN1_ENST00000323926.6_Missense_Mutation_p.P296L|FN1_ENST00000336916.4_Missense_Mutation_p.P296L|FN1_ENST00000354785.4_Missense_Mutation_p.P296L|FN1_ENST00000356005.4_Missense_Mutation_p.P296L|FN1_ENST00000432072.2_Missense_Mutation_p.P296L			P02751	FINC_HUMAN	fibronectin 1	296					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTGAGGCTGCGGTTGGTAAAC	0.517																																					p.P296L		Atlas-SNP	.											FN1_ENST00000354785,colon,carcinoma,+1,2	FN1	521	2	0			c.C887T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	6,4400	12.9+/-30.5	0,6,2197	122	119	120		887,887,887,887,887,887	5.8	1	2	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	98,98,98,98,98,98	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	296/2356,296/658,296/2177,296/2297,296/2331,296/2478	216289966	6,13000	2203	4300	6503	SO:0001583	missense	2335	exon7			GGCTGCGGTTGGT		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.887C>T	2.37:g.216289966G>A	ENSP00000352696:p.Pro296Leu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	33	0.34375	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.491508	0.84962	0.001362	0.0	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;2.19;2.34;0.88;2.4;2.04;2.39;2.04;2.34;2.08;1.57;0.88;1.47;1.46	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.68100	0.2964	L	0.59436	1.845	0.80722	D	1	D;D;P;D;D;D;D;D;D;D;P	0.89917	0.989;1.0;0.885;0.982;1.0;1.0;1.0;1.0;1.0;1.0;0.936	P;D;P;P;D;D;D;D;D;D;B	0.91635	0.592;0.998;0.477;0.688;0.999;0.998;0.983;0.996;0.999;0.999;0.396	T	0.68108	-0.5496	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	296;296;296;296;296;296;296;296;296;296;296	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	L	296	ENSP00000394423:P296L;ENSP00000323534:P296L;ENSP00000338200:P296L;ENSP00000350534:P296L;ENSP00000346839:P296L;ENSP00000352696:P296L;ENSP00000265312:P296L;ENSP00000273049:P296L;ENSP00000349509:P296L;ENSP00000410422:P296L;ENSP00000415018:P296L;ENSP00000399538:P296L;ENSP00000348285:P296L;ENSP00000398907:P296L	ENSP00000265313:P296L	P	-	2	0	FN1	215998211	1.000000	0.71417	0.999000	0.59377	0.682000	0.39822	2.458000	0.45014	2.763000	0.94921	0.563000	0.77884	CCG	G|1.000;A|0.000	0.000	strong		0.517	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216289966	G	A	216289966	3	1	15	1	0	0	0	0	1	0	0	0	5962	1116	39	1	6739	1	FN1	2	216289966	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	9115097	216289966	26909407	57	3677										
C2orf24	27013	hgsc.bcm.edu	37	chr2	220041491	220041491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cccccactcaccgtgaagtcCtggaagccggcgagggagaa	13	14	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:220041491C>T	ENST00000409789.1	-	2	487	c.60G>A	c.(58-60)caG>caA	p.Q20Q	FAM134A_ENST00000430297.2_5'Flank|CNPPD1_ENST00000360507.5_Silent_p.Q20Q			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	20					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCGTGAAGTCCTGGAAGCCGG	0.726																																					p.Q20Q		Atlas-SNP	.											.	CNPPD1	22	.	0			c.G60A						PASS	.						18	19	18					2																	220041491		2167	4262	6429	SO:0001819	synonymous_variant	27013	exon1			GAAGTCCTGGAAG	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.60G>A	2.37:g.220041491C>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_015680	B2RC77|O75548|Q9H4N0|Q9UQN0	Silent	SNP	ENST00000409789.1	37	CCDS2433.1																																																																																			.	.	none		0.726	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		T	220041491	C	T	220041491	2	4	15	1	0	0	0	0	0	0	0	1	2159	680	24	2		2	C2orf24	2	220041491	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3751525	220041491	23157882	58	3678										
STK11IP	114790	hgsc.bcm.edu	37	chr2	220474114	220474114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gccgtgttgaccccagtcacCaatgtggctcgggaacagct	12	13	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:220474114C>T	ENST00000456909.1	+	17	2046	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	STK11IP_ENST00000295641.10_Silent_p.T663T			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	663					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCAGTCACCAATGTGGCTC	0.637																																					p.T663T		Atlas-SNP	.											.	STK11IP	152	.	0			c.C1989T						PASS	.						31	37	35					2																	220474114		2041	4196	6237	SO:0001819	synonymous_variant	114790	exon17			AGTCACCAATGTG	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1956C>T	2.37:g.220474114C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	4	0.0519481	NM_052902	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																				.	.	none		0.637	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220474114	C	T	220474114	2	4	15	1	0	0	0	0	0	0	0	1	15287	581	21	2		2	STK11IP	2	220474114	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	432623	220474114	22725259	59	3679										
NMUR1	10316	hgsc.bcm.edu	37	chr2	232389859	232389859	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacagggtgctgcctgtggtCatcctgctgaggctgtggga	16	10	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:232389859C>T	ENST00000305141.4	-	3	1309	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	392					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCCTGTGGTCATCCTGCTGA	0.672																																					p.M392I		Atlas-SNP	.											.	NMUR1	46	.	0			c.G1176A						PASS	.						39	40	39					2																	232389859		2203	4300	6503	SO:0001583	missense	10316	exon3			TGTGGTCATCCTG	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1176G>A	2.37:g.232389859C>T	ENSP00000305877:p.Met392Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	157	60	0.382166	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224634	0.39300	.	.	ENSG00000171596	ENST00000305141	T	0.37235	1.21	4.27	3.36	0.38483	.	1.558880	0.04572	N	0.393532	T	0.21103	0.0508	N	0.08118	0	0.20074	N	0.999931	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.27785	T	0.31	-2.4681	6.9443	0.24510	0.0:0.5308:0.373:0.0962	.	392	Q9HB89	NMUR1_HUMAN	I	392	ENSP00000305877:M392I	ENSP00000305877:M392I	M	-	3	0	NMUR1	232098103	0.995000	0.38212	0.869000	0.34112	0.940000	0.58332	1.786000	0.38694	1.119000	0.41883	0.456000	0.33151	ATG	.	.	none		0.672	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		T	232389859	C	T	232389859	3	4	15	1	0	0	0	0	1	0	0	0	10506	826	29	2	108	2	NMUR1	2	232389859	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	11915745	232389859	10809514	60	3680										
UGT1A3	54659	hgsc.bcm.edu	37	chr2	234638445	234638445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggccctgtcctacatttgcCatgctttttctgctccttat	6	13	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:234638445C>T	ENST00000482026.1	+	1	692	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.H225Y|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	225					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.H225Y(4)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTACATTTGCCATGCTTTTTC	0.463																																					p.H225Y		Atlas-SNP	.											UGT1A3,NS,carcinoma,0,4	UGT1A3	91	4	4	Substitution - Missense(4)	kidney(4)	c.C673T						scavenged	.						256	243	248					2																	234638445		2203	4300	6503	SO:0001583	missense	54659	exon1			ATTTGCCATGCTT	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.673C>T	2.37:g.234638445C>T	ENSP00000418532:p.His225Tyr	Somatic	268	2	0.00746269		WXS	Illumina HiSeq	Phase_I	328	6	0.0182927	NM_019093	B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	3.832	-0.035541	0.07497	.	.	ENSG00000243135	ENST00000482026	T	0.59906	0.23	4.0	-4.48	0.03515	.	.	.	.	.	T	0.30166	0.0756	N	0.12502	0.225	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.13629	-1.0502	9	0.25106	T	0.35	.	4.339	0.11101	0.3718:0.1529:0.3968:0.0785	.	225;225	Q5DT01;P35503	.;UD13_HUMAN	Y	225	ENSP00000418532:H225Y	ENSP00000418532:H225Y	H	+	1	0	UGT1A3	234303184	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-4.869000	0.00176	-1.017000	0.03367	-0.455000	0.05494	CAT	.	.	none		0.463	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		T	234638445	C	T	234638445	3	4	15	1	0	0	0	0	1	0	0	0	16943	594	21	2	675	2	UGT1A3	2	234638445	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2248586	234638445	8560928	61	3681										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239040089	239040089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccgacgaggtggccgccggcCgccgggcctggaccgacggc	18	17	0	0	rs199724430	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr2:239040089C>T	ENST00000343063.3	+	9	2997	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.R544C|ESPNL_ENST00000409169.1_Missense_Mutation_p.R868C	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	912										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCCGCCGGCCGCCGGGCCTG	0.692													C|||	11	0.00219649	0.0	0.0	5008	,	,		13571	0.0109		0.0	False		,,,				2504	0.0				p.R912C		Atlas-SNP	.											ESPNL,NS,carcinoma,-1,1	ESPNL	63	1	0			c.C2734T						scavenged	.	C	CYS/ARG	2,4188		0,2,2093	9	12	11		2734	2.9	0.9	2		11	0,8228		0,0,4114	no	missense	ESPNL	NM_194312.2	180	0,2,6207	TT,TC,CC		0.0,0.0477,0.0161	probably-damaging	912/1006	239040089	2,12416	2095	4114	6209	SO:0001583	missense	339768	exon9			GCCGGCCGCCGGG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2734C>T	2.37:g.239040089C>T	ENSP00000339115:p.Arg912Cys	Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	11	6	0.545455	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	17.11	3.304542	0.60305	4.77E-4	0.0	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.70749	-0.51;0.58;0.22	4.72	2.87	0.33458	.	0.258957	0.31897	N	0.006898	T	0.72137	0.3423	M	0.68593	2.085	0.46823	D	0.999212	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.959	T	0.73430	-0.3985	10	0.87932	D	0	-35.1335	4.8076	0.13328	0.1532:0.6129:0.1486:0.0853	.	868;912	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	C	912;868;544	ENSP00000339115:R912C;ENSP00000386577:R868C;ENSP00000386579:R544C	ENSP00000339115:R912C	R	+	1	0	ESPNL	238704828	0.042000	0.20092	0.896000	0.35187	0.865000	0.49528	1.688000	0.37690	0.401000	0.25424	0.460000	0.39030	CGC	C|0.998;T|0.002	0.002	strong		0.692	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		T	239040089	C	T	239040089	3	4	15	1	0	0	0	0	1	0	0	0	5255	652	23	1	2768	1	ESPNL	2	239040089	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	4401644	239040089	4159284	62	3682										
NUP210	23225	hgsc.bcm.edu	37	chr3	13379381	13379381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gatgggggcgcggatcctcaCggcccttagcagcagcacct	14	14	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:13379381C>T	ENST00000254508.5	-	26	3590	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1170					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGATCCTCACGGCCCTTAGC	0.642																																					p.V1170M		Atlas-SNP	.											.	NUP210	182	.	0			c.G3508A						PASS	.						53	46	49					3																	13379381		2203	4300	6503	SO:0001583	missense	23225	exon26			TCCTCACGGCCCT	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3508G>A	3.37:g.13379381C>T	ENSP00000254508:p.Val1170Met	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365480	0.41902	.	.	ENSG00000132182	ENST00000254508	T	0.09163	3.01	4.86	4.86	0.63082	.	0.073766	0.56097	D	0.000034	T	0.17874	0.0429	M	0.70595	2.14	0.50313	D	0.999868	D	0.60160	0.987	P	0.45881	0.496	T	0.03051	-1.1078	10	0.30078	T	0.28	-20.1592	15.1051	0.72315	0.0:1.0:0.0:0.0	.	1170	Q8TEM1	PO210_HUMAN	M	1170	ENSP00000254508:V1170M	ENSP00000254508:V1170M	V	-	1	0	NUP210	13354381	0.987000	0.35691	0.941000	0.38009	0.017000	0.09413	2.662000	0.46766	2.408000	0.81797	0.655000	0.94253	GTG	.	.	none		0.642	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		T	13379381	C	T	13379381	3	4	15	1	0	0	0	0	1	0	0	0	10760	536	19	1	2215	1	NUP210	3	13379381	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		13379381	184643049	63	3683										
MST1	327	hgsc.bcm.edu	37	chr3	49723379	49723379	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtgccgcggtactgctccccTgcgccgtggtagcagtctgt	14	14	1	0	rs4052580		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:49723379T>C	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Silent_p.A388A|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTGCTCCCCTGCGCCGTGGT	0.711																																					p.A388A		Atlas-SNP	.											MST1,rectum,carcinoma,0,2	MST1	84	2	0			c.A1164G						scavenged	.						14	16	15					3																	49723379		2180	4265	6445	SO:0001628	intergenic_variant	4485	exon10			CTCCCCTGCGCCG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723379T>C		Somatic	16	3	0.1875		WXS	Illumina HiSeq	Phase_I	45	15	0.333333	NM_020998	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			T|1.000;|0.000	.	weak		0.711	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49723379	T	C	49723379	1	2	15	0	1	0	0	0	0	0	0	0	9890	1567	55	3		3	MST1	3	49723379	IGR	SNP	T	TCGA-FF-8061-01A-11D-2210-10	36343998	49723379	148299051	64	3684										
RNF123	63891	hgsc.bcm.edu	37	chr3	49757994	49757994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agatccctgcttccagctacGctcaatatgctatctcctgg	7	14	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:49757994G>A	ENST00000327697.6	+	36	3695	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	RNF123_ENST00000433785.1_Missense_Mutation_p.R296H|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1184					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCCAGCTACGCTCAATATGC	0.617																																					p.R1184H		Atlas-SNP	.											.	RNF123	100	.	0			c.G3551A						PASS	.						56	50	52					3																	49757994		2203	4300	6503	SO:0001583	missense	63891	exon36			AGCTACGCTCAAT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3551G>A	3.37:g.49757994G>A	ENSP00000328287:p.Arg1184His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	105	42	0.4	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877886	0.51801	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.72725	-0.68	5.29	5.29	0.74685	.	0.059077	0.64402	D	0.000001	T	0.65207	0.2669	L	0.40543	1.245	0.53688	D	0.999979	B	0.15473	0.013	B	0.08055	0.003	T	0.61734	-0.7002	10	0.59425	D	0.04	-23.7591	18.1046	0.89516	0.0:0.0:1.0:0.0	.	1184	Q5XPI4	RN123_HUMAN	H	1184;1184;296	ENSP00000328287:R1184H	ENSP00000328287:R1184H	R	+	2	0	RNF123	49732998	0.990000	0.36364	0.988000	0.46212	0.910000	0.53928	3.769000	0.55303	2.756000	0.94617	0.561000	0.74099	CGC	.	.	none		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49757994	G	A	49757994	3	1	15	1	0	0	0	0	1	0	0	0	13433	1087	38	1	3689	1	RNF123	3	49757994	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	34615	49757994	148264436	65	3685										
LMOD3	56203	hgsc.bcm.edu	37	chr3	69171353	69171353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tatgattgaagtttcctgtcGgtggcttgtcagtttgatct	11	6	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:69171353G>A	ENST00000420581.2	-	1	364	c.185C>T	c.(184-186)cCg>cTg	p.P62L	LMOD3_ENST00000475434.1_Missense_Mutation_p.P62L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P62L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	62						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GTTTCCTGTCGGTGGCTTGTC	0.473																																					p.P62L		Atlas-SNP	.											LMOD3_ENST00000420581,NS,carcinoma,+1,2	LMOD3	92	2	0			c.C185T						scavenged	.						91	85	87					3																	69171353		1858	4101	5959	SO:0001583	missense	56203	exon1			CCTGTCGGTGGCT	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.185C>T	3.37:g.69171353G>A	ENSP00000414670:p.Pro62Leu	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_198271	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692351	0.88735	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.34472	1.36;1.36;1.36	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70802	-0.4773	10	0.87932	D	0	-15.6816	19.2242	0.93812	0.0:0.0:1.0:0.0	.	62	Q0VAK6	LMOD3_HUMAN	L	62	ENSP00000414670:P62L;ENSP00000417210:P62L;ENSP00000418645:P62L	ENSP00000414670:P62L	P	-	2	0	LMOD3	69254043	1.000000	0.71417	0.871000	0.34182	0.720000	0.41350	9.869000	0.99810	2.553000	0.86117	0.591000	0.81541	CCG	.	.	none		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		A	69171353	G	A	69171353	3	1	15	1	0	0	0	0	1	0	0	0	8858	1116	39	1	1509	1	LMOD3	3	69171353	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	19413359	69171353	128851077	66	3686										
CADM2	253559	hgsc.bcm.edu	37	chr3	85932591	85932591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caaggcatatctcaccgttcTgggtaagtgcaagggactaa	11	9	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:85932591T>G	ENST00000407528.2	+	3	424	c.362T>G	c.(361-363)cTg>cGg	p.L121R	CADM2_ENST00000405615.2_Missense_Mutation_p.L123R|CADM2_ENST00000383699.3_Missense_Mutation_p.L130R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	121					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTCACCGTTCTGGGTAAGTGC	0.353																																					p.L130R		Atlas-SNP	.											.	CADM2	195	.	0			c.T389G						PASS	.						78	66	70					3																	85932591		2203	4300	6503	SO:0001583	missense	253559	exon4			CCGTTCTGGGTAA	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.362T>G	3.37:g.85932591T>G	ENSP00000384575:p.Leu121Arg	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	59	22	0.372881	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262776	0.59431	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.29142	1.58;1.58;1.58	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.89414	3.03	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.995;0.997;0.998	T	0.70684	-0.4804	10	0.72032	D	0.01	.	15.9801	0.80102	0.0:0.0:0.0:1.0	.	123;130;121	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	130;121;123	ENSP00000373200:L130R;ENSP00000384575:L121R;ENSP00000384193:L123R	ENSP00000373200:L130R	L	+	2	0	CADM2	86015281	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.655000	0.83696	2.230000	0.72887	0.528000	0.53228	CTG	.	.	none		0.353	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		G	85932591	T	G	85932591	3	3	15	1	0	0	0	0	1	0	0	0	2567	1580	55	5	443	5	CADM2	3	85932591	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	16761238	85932591	112089839	67	3687										
ZBED2	79413	hgsc.bcm.edu	37	chr3	111312927	111312927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggggcattggagtgggcataGcactcacaaaagggccaacc	14	10	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:111312927G>A	ENST00000317012.4	-	2	1130	c.122C>T	c.(121-123)gCt>gTt	p.A41V	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	41							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						AGTGGGCATAGCACTCACAAA	0.532																																					p.A41V		Atlas-SNP	.											.	ZBED2	22	.	0			c.C122T						PASS	.						243	203	217					3																	111312927		2203	4300	6503	SO:0001583	missense	79413	exon2			GGCATAGCACTCA	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.122C>T	3.37:g.111312927G>A	ENSP00000321370:p.Ala41Val	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	190	76	0.4	NM_024508	D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142084	0.09083	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.16	2.27	0.28462	.	.	.	.	.	T	0.25005	0.0607	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19844	-1.0293	8	0.22706	T	0.39	.	6.0802	0.19936	0.1484:0.0:0.8516:0.0	.	41	Q9BTP6	ZBED2_HUMAN	V	41	.	ENSP00000321370:A41V	A	-	2	0	ZBED2	112795617	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	0.323000	0.19593	0.654000	0.30846	0.563000	0.77884	GCT	.	.	none		0.532	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		A	111312927	G	A	111312927	3	1	15	1	0	0	0	0	1	0	0	0	17515	971	34	2	538	2	ZBED2	3	111312927	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	25380336	111312927	86709503	68	3688										
GTF2E1	2960	hgsc.bcm.edu	37	chr3	120500292	120500292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atatatagcaatgggacaacGcatgtttgaggacctctttg	10	7	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:120500292G>A	ENST00000283875.5	+	5	1388	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	432					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATGGGACAACGCATGTTTGAG	0.448																																					p.R432H		Atlas-SNP	.											GTF2E1,colon,carcinoma,0,3	GTF2E1	52	3	0			c.G1295A						scavenged	.						150	151	151					3																	120500292		2203	4300	6503	SO:0001583	missense	2960	exon5			GACAACGCATGTT	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1295G>A	3.37:g.120500292G>A	ENSP00000283875:p.Arg432His	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	204	3	0.0147059	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183499	0.78677	.	.	ENSG00000153767	ENST00000283875	T	0.44482	0.92	5.39	5.39	0.77823	.	0.214467	0.47852	D	0.000219	T	0.45013	0.1321	L	0.51422	1.61	0.43021	D	0.994571	D	0.63046	0.992	P	0.49192	0.602	T	0.43909	-0.9362	10	0.66056	D	0.02	-47.8026	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	432	P29083	T2EA_HUMAN	H	432	ENSP00000283875:R432H	ENSP00000283875:R432H	R	+	2	0	GTF2E1	121982982	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	5.969000	0.70422	2.814000	0.96858	0.650000	0.86243	CGC	.	.	none		0.448	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		A	120500292	G	A	120500292	3	1	15	1	0	0	0	0	1	0	0	0	6856	1087	38	1	1309	1	GTF2E1	3	120500292	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	9187365	120500292	77522138	69	3689										
KALRN	8997	hgsc.bcm.edu	37	chr3	124415065	124415065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgcatagcaacaaatgaccaCgggaccacatcaacgtctgc	8	13	2	1	rs199791998		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:124415065C>T	ENST00000291478.5	+	21	2734	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	KALRN_ENST00000360013.3_Silent_p.H2554H|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Silent_p.H825H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2553					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H857H(1)|p.H2554H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAATGACCACGGGACCACAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18520	0.0		0.001	False		,,,				2504	0.0				p.H2554H		Atlas-SNP	.											TRAD,colon,carcinoma,0,2	KALRN	556	2	2	Substitution - coding silent(2)	large_intestine(2)	c.C7662T						scavenged	.						127	122	124					3																	124415065		2203	4300	6503	SO:0001819	synonymous_variant	8997	exon54			TGACCACGGGACC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2571C>T	3.37:g.124415065C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	151	3	0.0198676	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.502	0.460875	0.12342	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.71	-2.75	0.05914	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	4	.	.	.	.	5.434	0.16469	0.0896:0.3118:0.088:0.5106	.	.	.	.	M	2523	.	.	T	+	2	0	KALRN	125897755	0.000000	0.05858	0.783000	0.31826	0.890000	0.51754	-3.236000	0.00546	-0.637000	0.05516	-0.150000	0.13652	ACG	C|1.000;T|0.000	0.000	strong		0.413	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		T	124415065	C	T	124415065	2	4	15	1	0	0	0	0	0	0	0	1	7975	535	19	1		1	KALRN	3	124415065	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3914773	124415065	73607365	70	3690										
PLCH1	23007	hgsc.bcm.edu	37	chr3	155205862	155205862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgtgtacaaatatggatgcTtctgtcagtccttccaaata	7	8	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:155205862T>G	ENST00000340059.7	-	20	2537	c.2538A>C	c.(2536-2538)gaA>gaC	p.E846D	PLCH1_ENST00000460012.1_Missense_Mutation_p.E828D|PLCH1_ENST00000494598.1_Missense_Mutation_p.E846D|PLCH1_ENST00000414191.1_Missense_Mutation_p.E828D|PLCH1_ENST00000334686.6_Missense_Mutation_p.E828D|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Missense_Mutation_p.E846D	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	846					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATATGGATGCTTCTGTCAGTC	0.363																																					p.E846D		Atlas-SNP	.											.	PLCH1	406	.	0			c.A2538C						PASS	.						132	130	130					3																	155205862		2203	4300	6503	SO:0001583	missense	23007	exon20			GGATGCTTCTGTC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2538A>C	3.37:g.155205862T>G	ENSP00000345988:p.Glu846Asp	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	84	7	0.0833333	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650690	0.67472	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.18	1.45	0.22620	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.73962	2.25	0.54753	D	0.999989	D;D;D	0.71674	0.996;0.998;0.984	D;D;P	0.69824	0.966;0.926;0.888	T	0.00953	-1.1502	10	0.36615	T	0.2	.	8.9787	0.35953	0.0:0.2141:0.0:0.7859	.	828;846;846	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	D	846;828;846;846;828;828	ENSP00000419100:E846D;ENSP00000417502:E828D;ENSP00000402759:E846D;ENSP00000345988:E846D;ENSP00000335469:E828D;ENSP00000412977:E828D	ENSP00000335469:E828D	E	-	3	2	PLCH1	156688556	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.763000	0.38461	0.013000	0.14918	-0.250000	0.11733	GAA	.	.	none		0.363	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		G	155205862	T	G	155205862	3	3	15	1	0	0	0	0	1	0	0	0	12037	1606	56	5	2574	5	PLCH1	3	155205862	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	30790797	155205862	42816568	71	3691										
SLITRK3	22865	hgsc.bcm.edu	37	chr3	164907346	164907346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaaattccaaaaatcagaacGgtatattttctgaatcagat	5	6	3	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:164907346G>T	ENST00000475390.1	-	2	1716	c.1273C>A	c.(1273-1275)Cgt>Agt	p.R425S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R425S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	425					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAATCAGAACGGTATATTTTC	0.398										HNSCC(40;0.11)																											p.R425S		Atlas-SNP	.											SLITRK3,NS,carcinoma,+1,1	SLITRK3	263	1	0			c.C1273A						scavenged	.						54	56	55					3																	164907346		2203	4300	6503	SO:0001583	missense	22865	exon2			CAGAACGGTATAT	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1273C>A	3.37:g.164907346G>T	ENSP00000420091:p.Arg425Ser	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	49	3	0.0612245	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429477	0.43122	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.58	5.58	0.84498	.	0.000000	0.38436	N	0.001696	T	0.42517	0.1206	L	0.44542	1.39	0.51012	D	0.999905	P	0.48998	0.918	P	0.44477	0.451	T	0.10660	-1.0620	10	0.17369	T	0.5	-15.343	14.2462	0.65990	0.0:0.0:0.851:0.149	.	425	O94933	SLIK3_HUMAN	S	425	ENSP00000420091:R425S;ENSP00000241274:R425S	ENSP00000241274:R425S	R	-	1	0	SLITRK3	166390040	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.906000	0.69900	2.906000	0.99361	0.655000	0.94253	CGT	.	.	none		0.398	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164907346	G	T	164907346	3	4	15	1	0	0	0	0	1	0	0	0	14744	1116	39	4	1664	4	SLITRK3	3	164907346	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	9701484	164907346	33115084	72	3692										
MCCC1	56922	hgsc.bcm.edu	37	chr3	182775212	182775212	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacctggacttctacatgccTatataaaagcaaacatgtat	5	10	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:182775212T>C	ENST00000265594.4	-	8	908		c.e8-2		MCCC1_ENST00000492597.1_Splice_Site|MCCC1_ENST00000539926.1_Splice_Site	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTACATGCCTATATAAAAGC	0.383																																					.		Atlas-SNP	.											MCCC1,NS,carcinoma,+2,1	MCCC1	87	1	0			c.762-2A>G						scavenged	.						62	52	55					3																	182775212		2202	4300	6502	SO:0001630	splice_region_variant	56922	exon9			CATGCCTATATAA	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.762-2A>G	3.37:g.182775212T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_020166	Q59ES4|Q9H959|Q9NS97	Splice_Site	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411047	0.62399	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0224	0.71640	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCCC1	184257906	1.000000	0.71417	0.912000	0.35992	0.636000	0.38137	7.355000	0.79434	2.034000	0.60081	0.383000	0.25322	.	.	.	none		0.383	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	Intron	C	182775212	T	C	182775212	5	2	15	1	0	0	0	0	0	0	1	0	9374	1536	53	3	1465	3	MCCC1	3	182775212	Splice_Site	SNP	T	TCGA-FF-8061-01A-11D-2210-10	17867866	182775212	15247218	73	3693										
ALG3	10195	hgsc.bcm.edu	37	chr3	183960348	183960348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctcttggggaaaggctgcGggcccagccagagctgcagc	16	12	1	1	rs79144888	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:183960348G>A	ENST00000397676.3	-	9	1301	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	ALG3_ENST00000455059.1_Missense_Mutation_p.P384L|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000445626.2_Missense_Mutation_p.P376L|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Missense_Mutation_p.P368L|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	424					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAAGGCTGCGGGCCCAGCCA	0.592													G|||	17	0.00339457	0.0	0.0	5008	,	,		18276	0.0169		0.0	False		,,,				2504	0.0				p.P424L		Atlas-SNP	.											ALG3_ENST00000445626,NS,carcinoma,+1,3	ALG3	48	3	0			c.C1271T						scavenged	.						61	66	64					3																	183960348		2022	4191	6213	SO:0001583	missense	10195	exon9			GGCTGCGGGCCCA	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1271C>T	3.37:g.183960348G>A	ENSP00000380793:p.Pro424Leu	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	270	3	0.0111111	NM_005787	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	13	0.005952380952380952	0	0.0	0	0.0	13	0.022727272727272728	0	0.0	G	9.864	1.197017	0.22037	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.86956	-1.61;-2.19;-2.02;-2.02	4.65	3.77	0.43336	.	0.240947	0.34507	N	0.003914	T	0.58623	0.2135	N	0.19112	0.55	0.48185	D	0.999607	B;P;B;B	0.35226	0.342;0.491;0.361;0.0	B;B;B;B	0.22753	0.028;0.041;0.017;0.0	T	0.62440	-0.6854	10	0.15952	T	0.53	-11.7909	11.9654	0.53031	0.0919:0.0:0.9081:0.0	.	376;368;384;424	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	L	368;424;376;384	ENSP00000402976:P368L;ENSP00000380793:P424L;ENSP00000402744:P376L;ENSP00000397613:P384L	ENSP00000380793:P424L	P	-	2	0	ALG3	185443042	1.000000	0.71417	0.868000	0.34077	0.478000	0.33099	4.087000	0.57671	0.700000	0.31782	-1.598000	0.00824	CCG	G|0.993;A|0.007	0.007	strong		0.592	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		A	183960348	G	A	183960348	3	1	15	1	0	0	0	0	1	0	0	0	520	1116	39	1	49	1	ALG3	3	183960348	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1185136	183960348	14062082	74	3694										
ECE2	9718	hgsc.bcm.edu	37	chr3	184009972	184009972	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgtgacttcctgcggcacttCggctgccctgtcggctcccc	11	18	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:184009972C>T	ENST00000402825.3	+	19	2598	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	ECE2_ENST00000404464.3_Silent_p.F748F|ECE2_ENST00000359140.4_Silent_p.F719F|ECE2_ENST00000357474.5_Silent_p.F794F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	866	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.F866F(1)|p.F719F(1)|p.F794F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGCACTTCGGCTGCCCTG	0.657																																					p.F866F		Atlas-SNP	.											ECE2_ENST00000402825,bladder,carcinoma,0,6	ECE2	303	6	3	Substitution - coding silent(3)	urinary_tract(3)	c.C2598T						scavenged	.						45	46	46					3																	184009972		2203	4300	6503	SO:0001819	synonymous_variant	9718	exon19			GCACTTCGGCTGC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2598C>T	3.37:g.184009972C>T		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	184	3	0.0163043	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																			.	.	none		0.657	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		T	184009972	C	T	184009972	2	4	15	1	0	0	0	0	0	0	0	1	4890	883	31	1		1	ECE2	3	184009972	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	49624	184009972	14012458	75	3695										
ETV5	2119	hgsc.bcm.edu	37	chr3	185797673	185797673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caggggctgatgtggtggtcGggggaccgcaaatgtttgct	18	7	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:185797673G>A	ENST00000306376.5	-	7	829	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Nonsense_Mutation_p.R195*|ETV5_ENST00000537818.1_Nonsense_Mutation_p.R237*	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	195					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGTGGTGGTCGGGGGACCGCA	0.587			T	"TMPRSS2, SCL45A3"	Prostate																																p.R195X		Atlas-SNP	.		Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5	106	.	0			c.C583T						PASS	.						120	118	119					3																	185797673		2203	4300	6503	SO:0001587	stop_gained	2119	exon7			GTGGTCGGGGGAC	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.583C>T	3.37:g.185797673G>A	ENSP00000306894:p.Arg195*	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	166	74	0.445783	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Nonsense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	39	7.294772	0.98192	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	.	.	.	5.34	3.39	0.38822	.	0.818906	0.11352	N	0.572821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	11.3294	0.49467	0.0:0.0:0.6711:0.3289	.	.	.	.	X	195;195;237	.	ENSP00000306894:R195X	R	-	1	2	ETV5	187280367	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	5.489000	0.66875	1.201000	0.43203	0.563000	0.77884	CGA	.	.	none		0.587	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185797673	G	A	185797673	4	1	15	1	0	0	0	0	0	1	0	0	5282	1124	39	1	977	1	ETV5	3	185797673	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1787701	185797673	12224757	76	3696										
RTP2	344892	hgsc.bcm.edu	37	chr3	187416659	187416659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctggactcgtccagccgcGccgtgccgcactcatagcac	11	17	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr3:187416659G>A	ENST00000358241.1	-	2	733	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	102					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GTCCAGCCGCGCCGTGCCGCA	0.647																																					p.A102V		Atlas-SNP	.											RTP2,colon,carcinoma,+1,1	RTP2	38	1	0			c.C305T						scavenged	.						24	22	23					3																	187416659		2200	4273	6473	SO:0001583	missense	344892	exon2			AGCCGCGCCGTGC	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.305C>T	3.37:g.187416659G>A	ENSP00000350976:p.Ala102Val	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	247	2	0.00809717	NM_001004312	Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051447	0.55218	.	.	ENSG00000198471	ENST00000358241	T	0.23147	1.92	4.17	4.17	0.49024	.	0.286088	0.37857	N	0.001907	T	0.23688	0.0573	L	0.42245	1.32	0.26185	N	0.979661	P	0.42248	0.774	B	0.40901	0.343	T	0.14035	-1.0487	10	0.49607	T	0.09	-16.6618	12.2956	0.54844	0.0:0.0:1.0:0.0	.	102	Q5QGT7	RTP2_HUMAN	V	102	ENSP00000350976:A102V	ENSP00000350976:A102V	A	-	2	0	RTP2	188899353	0.420000	0.25457	0.999000	0.59377	0.346000	0.29079	2.897000	0.48664	2.621000	0.88768	0.563000	0.77884	GCG	.	.	none		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		A	187416659	G	A	187416659	3	1	15	1	0	0	0	0	1	0	0	0	13734	1087	38	1	376	1	RTP2	3	187416659	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1618986	187416659	10605771	77	3697										
CRMP1	1400	hgsc.bcm.edu	37	chr4	5868477	5868477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tccacctttgatgaggagtcGgtcactctgcaaagcaaggc	11	11	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:5868477G>A	ENST00000397890.2	-	2	260	c.46C>T	c.(46-48)Cga>Tga	p.R16*	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Nonsense_Mutation_p.R14*|CRMP1_ENST00000324989.7_Nonsense_Mutation_p.R130*	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	16					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATGAGGAGTCGGTCACTCTGC	0.383																																					p.R130X		Atlas-SNP	.											CRMP1,NS,carcinoma,+1,1	CRMP1	118	1	0			c.C388T						scavenged	.						102	88	93					4																	5868477		2203	4300	6503	SO:0001587	stop_gained	1400	exon2			GGAGTCGGTCACT	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.46C>T	4.37:g.5868477G>A	ENSP00000380987:p.Arg16*	Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	83	24	0.289157	NM_001014809	A0EJG6|Q13024|Q4W5F1|Q96TC8	Nonsense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	41	8.922703	0.99004	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	.	.	.	4.26	4.26	0.50523	.	0.237948	0.33772	N	0.004567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8303	15.8244	0.78686	0.0:0.0:1.0:0.0	.	.	.	.	X	130;16;16;14	.	ENSP00000321606:R130X	R	-	1	2	CRMP1	5919378	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.469000	0.60169	2.194000	0.70268	0.563000	0.77884	CGA	.	.	none		0.383	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		A	5868477	G	A	5868477	4	1	15	1	0	0	0	0	0	1	0	0	3890	1124	39	1	1724	1	CRMP1	4	5868477	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10		5868477	185285799	78	3698										
BOD1L	259282	hgsc.bcm.edu	37	chr4	13602085	13602085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcgaattcttcccctatgcTtgtggaaatcatggcacact	7	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:13602085T>C	ENST00000040738.5	-	10	6574	c.6439A>G	c.(6439-6441)Agc>Ggc	p.S2147G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2147						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2147G(1)									TCCCCTATGCTTGTGGAAATC	0.502																																					p.S2147G		Atlas-SNP	.											BOD1L,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	kidney(1)	c.A6439G						scavenged	.						83	73	77					4																	13602085		2203	4300	6503	SO:0001583	missense	259282	exon10			CTATGCTTGTGGA	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6439A>G	4.37:g.13602085T>C	ENSP00000040738:p.Ser2147Gly	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	3	0.0461538	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072314	0.76415	.	.	ENSG00000038219	ENST00000040738	T	0.16457	2.34	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.43411	0.1246	M	0.78456	2.415	0.40176	D	0.977236	D	0.76494	0.999	D	0.78314	0.991	T	0.47368	-0.9123	10	0.87932	D	0	-5.3309	14.1665	0.65480	0.0:0.0:0.0:1.0	.	2147	Q8NFC6	BOD1L_HUMAN	G	2147	ENSP00000040738:S2147G	ENSP00000040738:S2147G	S	-	1	0	BOD1L	13211183	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	4.896000	0.63222	2.083000	0.62718	0.454000	0.30748	AGC	.	.	none		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13602085	T	C	13602085	3	2	15	1	0	0	0	0	1	0	0	0	1483	1609	56	3	2784	3	BOD1L	4	13602085	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	7733608	13602085	177552191	79	3699										
TXK	7294	hgsc.bcm.edu	37	chr4	48096117	48096117	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcattgtgctggtgatacCagattaactcagggattgat	11	7	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:48096117C>T	ENST00000264316.4	-	8	771	c.686G>A	c.(685-687)tGg>tAg	p.W229*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	229	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTGGTGATACCAGATTAACTC	0.483																																					p.W229X		Atlas-SNP	.											TXK,rectum,carcinoma,+1,1	TXK	58	1	0			c.G686A						scavenged	.						150	145	147					4																	48096117		2203	4300	6503	SO:0001587	stop_gained	7294	exon8			TGATACCAGATTA	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.686G>A	4.37:g.48096117C>T	ENSP00000264316:p.Trp229*	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	86	2	0.0232558	NM_003328	Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509801	0.85282	.	.	ENSG00000074966	ENST00000264316	.	.	.	5.23	1.21	0.21127	.	0.801655	0.11137	N	0.595713	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	1.0612	0.01600	0.1533:0.3522:0.1505:0.3441	.	.	.	.	X	229	.	ENSP00000264316:W229X	W	-	2	0	TXK	47790874	0.149000	0.22717	0.973000	0.42090	0.954000	0.61252	1.105000	0.31086	0.284000	0.22305	0.650000	0.86243	TGG	.	.	none		0.483	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		T	48096117	C	T	48096117	4	4	15	1	0	0	0	0	0	1	0	0	16783	595	21	2	929	2	TXK	4	48096117	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	34494032	48096117	143058159	80	3700										
TECRL	253017	hgsc.bcm.edu	37	chr4	65188493	65188493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	actttgaatggtaatgtagtCcttcaaaaaaggcccgccta	8	9	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:65188493C>T	ENST00000381210.3	-	4	459	c.349G>A	c.(349-351)Gac>Aac	p.D117N	TECRL_ENST00000513125.1_5'Flank|TECRL_ENST00000507440.1_Missense_Mutation_p.D117N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	117					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTAATGTAGTCCTTCAAAAAA	0.323																																					p.D117N		Atlas-SNP	.											.	TECRL	106	.	0			c.G349A						PASS	.						58	58	58					4																	65188493		2203	4300	6503	SO:0001583	missense	253017	exon4			TGTAGTCCTTCAA	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.349G>A	4.37:g.65188493C>T	ENSP00000370607:p.Asp117Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005165	0.35415	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.48522	0.81;0.81;0.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.73962	2.25	0.53005	D	0.999963	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.984	T	0.65861	-0.6065	10	0.37606	T	0.19	0.1933	15.4919	0.75611	0.0:1.0:0.0:0.0	.	117;117	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	N	117	ENSP00000426043:D117N;ENSP00000370607:D117N;ENSP00000422497:D117N	ENSP00000370607:D117N	D	-	1	0	TECRL	64871088	1.000000	0.71417	0.996000	0.52242	0.018000	0.09664	4.729000	0.62008	2.728000	0.93425	0.585000	0.79938	GAC	.	.	none		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		T	65188493	C	T	65188493	3	4	15	1	0	0	0	0	1	0	0	0	15743	855	30	2	778	2	TECRL	4	65188493	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	17092376	65188493	125965783	81	3701										
RUFY3	22902	hgsc.bcm.edu	37	chr4	71640926	71640926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tctggaccagaagaactatgTagaagaactgaacagacatt	9	7	1	6			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:71640926T>C	ENST00000226328.4	+	7	1363	c.800T>C	c.(799-801)gTa>gCa	p.V267A	RUFY3_ENST00000417478.2_Missense_Mutation_p.V327A|RUFY3_ENST00000536664.1_Missense_Mutation_p.V251A|RUFY3_ENST00000381006.3_Missense_Mutation_p.V267A|RUFY3_ENST00000502653.1_Missense_Mutation_p.V214A	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	267					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAACTATGTAGAAGAACTG	0.358																																					p.V327A		Atlas-SNP	.											RUFY3,NS,carcinoma,-1,1	RUFY3	61	1	0			c.T980C						scavenged	.						63	66	65					4																	71640926		2203	4300	6503	SO:0001583	missense	22902	exon7			ACTATGTAGAAGA	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.800T>C	4.37:g.71640926T>C	ENSP00000226328:p.Val267Ala	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	129	2	0.0155039	NM_001130709	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278045	0.95459	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.15487	2.42;2.79;2.49;2.5;2.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.73217	2.22	0.80722	D	1	D;D;P;P	0.54964	0.969;0.961;0.93;0.934	P;P;P;P	0.56042	0.74;0.721;0.504;0.79	T	0.07731	-1.0757	10	0.52906	T	0.07	-22.3735	15.7225	0.77724	0.0:0.0:0.0:1.0	.	251;267;267;327	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	A	327;267;267;251;214	ENSP00000399771:V327A;ENSP00000370394:V267A;ENSP00000226328:V267A;ENSP00000443652:V251A;ENSP00000425400:V214A	ENSP00000226328:V267A	V	+	2	0	RUFY3	71859790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.250000	0.74265	0.477000	0.44152	GTA	.	.	none		0.358	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		C	71640926	T	C	71640926	3	2	15	1	0	0	0	0	1	0	0	0	13740	1638	57	2	1188	2	RUFY3	4	71640926	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	6452433	71640926	119513350	82	3702										
GRID2	2895	hgsc.bcm.edu	37	chr4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtggtggactttacgacacGttacatggactactcagtgg	12	8	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTACGACACGTTACATGGAC	0.443																																					p.R539H		Atlas-SNP	.											GRID2,NS,carcinoma,+1,1	GRID2	233	1	0			c.G1616A						PASS	.						160	144	149					4																	94376883		2203	4300	6503	SO:0001583	missense	2895	exon11			CGACACGTTACAT	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1616G>A	4.37:g.94376883G>A	ENSP00000282020:p.Arg539His	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	180	62	0.344444	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086141	0.94100	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59198	-0.7499	10	0.66056	D	0.02	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	444;539	E9PH24;O43424	.;GRID2_HUMAN	H	539;444	ENSP00000282020:R539H;ENSP00000421257:R444H	ENSP00000282020:R539H	R	+	2	0	GRID2	94595906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT	.	.	none		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94376883	G	A	94376883	3	1	15	1	0	0	0	0	1	0	0	0	6772	1145	40	1	1658	1	GRID2	4	94376883	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	22735957	94376883	96777393	83	3703										
C4orf37	285555	hgsc.bcm.edu	37	chr4	98893436	98893436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtatgaatgtattacctgatAatcagcaggtccaggggtag	12	6	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:98893436A>C	ENST00000295268.3	-	7	1017	c.928T>G	c.(928-930)Tat>Gat	p.Y310D		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	310																	ATTACCTGATAATCAGCAGGT	0.353																																					p.Y310D		Atlas-SNP	.											.	.	.	.	0			c.T928G						PASS	.						72	74	73					4																	98893436		2203	4300	6503	SO:0001583	missense	285555	exon7			CCTGATAATCAGC	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.928T>G	4.37:g.98893436A>C	ENSP00000295268:p.Tyr310Asp	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	175	66	0.377143	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828153	0.50845	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.77877	-1.13;1.39	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	D	0.82879	0.5133	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84923	0.0855	10	0.87932	D	0	-16.3241	14.4978	0.67700	1.0:0.0:0.0:0.0	.	310	Q8N412	CD037_HUMAN	D	24;310	ENSP00000428346:Y24D;ENSP00000295268:Y310D	ENSP00000295268:Y310D	Y	-	1	0	C4orf37	99112459	1.000000	0.71417	0.985000	0.45067	0.357000	0.29423	5.252000	0.65445	2.066000	0.61787	0.455000	0.32223	TAT	.	.	none		0.353	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		C	98893436	A	C	98893436	3	2	15	1	0	0	0	0	1	0	0	0	2267	362	13	5	471	5	C4orf37	4	98893436	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	4516553	98893436	92260840	84	3704										
TET2	54790	hgsc.bcm.edu	37	chr4	106193850	106193850	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtgtggaagctcaggaggagAaaaaacggagtggtgccatt	16	5	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:106193850A>T	ENST00000540549.1	+	10	5172	c.4312A>T	c.(4312-4314)Aaa>Taa	p.K1438*	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Nonsense_Mutation_p.K1438*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K1459*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1438					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGGAGGAGAAAAAACGGAG	0.473			"Mis N, F"		MDS																																p.K1438X		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	0			c.A4312T						PASS	.						161	152	155					4																	106193850		692	1591	2283	SO:0001587	stop_gained	54790	exon10			GAGGAGAAAAAAC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4312A>T	4.37:g.106193850A>T	ENSP00000442788:p.Lys1438*	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	130	108	0.830769	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	50	16.191500	0.99857	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9501	15.5771	0.76400	1.0:0.0:0.0:0.0	.	.	.	.	X	1438;1459;1438	.	ENSP00000369351:K1438X	K	+	1	0	TET2	106413299	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	6.960000	0.76036	2.324000	0.78689	0.533000	0.62120	AAA	.	.	none		0.473	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		T	106193850	A	T	106193850	4	4	15	1	0	0	0	0	0	1	0	0	15767	247	9	5	4431	5	TET2	4	106193850	Nonsense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	7300414	106193850	84960426	85	3705										
FAT4	79633	hgsc.bcm.edu	37	chr4	126412648	126412648	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atggagccagactgaagcctCgaaggtaccacggtcgcagg	14	11	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:126412648C>T	ENST00000394329.3	+	17	14684	c.14671C>T	c.(14671-14673)Cga>Tga	p.R4891*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R3132*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4891					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGAAGCCTCGAAGGTACCA	0.527																																					p.R4891X		Atlas-SNP	.											FAT4_ENST00000394329,NS,carcinoma,0,2	FAT4	1752	2	0			c.C14671T						scavenged	.						57	57	57					4																	126412648		2203	4300	6503	SO:0001587	stop_gained	79633	exon17			AAGCCTCGAAGGT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14671C>T	4.37:g.126412648C>T	ENSP00000377862:p.Arg4891*	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	52	19.781489	0.99923	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.19	-5.33	0.02713	.	0.000000	0.34178	U	0.004190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.3004	0.94141	0.2838:0.7162:0.0:0.0	.	.	.	.	X	4891;3132	.	ENSP00000335169:R3132X	R	+	1	2	FAT4	126632098	0.401000	0.25303	0.082000	0.20525	0.179000	0.23085	0.673000	0.25203	-0.335000	0.08451	0.491000	0.48974	CGA	.	.	none		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126412648	C	T	126412648	4	4	15	1	0	0	0	0	0	1	0	0	5692	876	31	1	14737	1	FAT4	4	126412648	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	20218798	126412648	64741628	86	3706										
C4orf49	84709	hgsc.bcm.edu	37	chr4	140187819	140187819	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtaaatcatctccagcagaGgactctgactcagctggaga	10	10	4	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:140187819G>T	ENST00000398955.1	-	4	836	c.657C>A	c.(655-657)tcC>tcA	p.S219S		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	219					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											CTCCAGCAGAGGACTCTGACT	0.453																																					p.S219S		Atlas-SNP	.											C4orf49,NS,carcinoma,0,1	.	.	1	0			c.C657A						scavenged	.						88	82	84					4																	140187819		1921	4139	6060	SO:0001819	synonymous_variant	84709	exon4			AGCAGAGGACTCT	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.657C>A	4.37:g.140187819G>T		Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_032623	Q9BZC3	Silent	SNP	ENST00000398955.1	37	CCDS43269.1																																																																																			.	.	none		0.453	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		T	140187819	G	T	140187819	2	4	15	1	0	0	0	0	0	0	0	1	2275	987	35	4		4	C4orf49	4	140187819	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	13775171	140187819	50966457	87	3707										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155225950	155225950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggaaacaataaactctggtgCgtgatcgttttcatcttcaa	8	8	4	1	rs140326799		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:155225950C>T	ENST00000357232.4	-	17	4110	c.4111G>A	c.(4111-4113)Gca>Aca	p.A1371T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1371	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1371T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTCTGGTGCGTGATCGTTT	0.448																																					p.A1371T		Atlas-SNP	.											DCHS2,colon,carcinoma,0,1	DCHS2	594	1	1	Substitution - Missense(1)	large_intestine(1)	c.G4111A						scavenged	.	C	THR/ALA	0,4406		0,0,2203	83	76	79		4111	2.7	0	4	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCHS2	NM_017639.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1371/2917	155225950	1,13005	2203	4300	6503	SO:0001583	missense	54798	exon17			CTGGTGCGTGATC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4111G>A	4.37:g.155225950C>T	ENSP00000349768:p.Ala1371Thr	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	232	3	0.012931	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935752	0.18206	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.61627	0.09	5.67	2.65	0.31530	Cadherin (3);Cadherin-like (1);	0.469001	0.20009	N	0.101161	T	0.39627	0.1085	L	0.58669	1.825	0.40099	D	0.976346	B	0.31968	0.349	B	0.17722	0.019	T	0.29027	-1.0025	10	0.06099	T	0.92	.	4.7129	0.12880	0.1495:0.4321:0.0:0.4184	.	1371	Q6V1P9	PCD23_HUMAN	T	1371	ENSP00000349768:A1371T	ENSP00000349768:A1371T	A	-	1	0	DCHS2	155445400	0.000000	0.05858	0.013000	0.15412	0.679000	0.39708	-0.256000	0.08757	0.182000	0.20032	0.655000	0.94253	GCA	C|1.000;T|0.000	0.000	weak		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155225950	C	T	155225950	3	4	15	1	0	0	0	0	1	0	0	0	4288	768	27	1	4675	1	DCHS2	4	155225950	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	15038131	155225950	35928326	88	3708										
NPY2R	4887	hgsc.bcm.edu	37	chr4	156135863	156135863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtcctggagctgcaaatgacCactaccatcagcgaaggcaa	10	12	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:156135863C>T	ENST00000329476.3	+	2	1261	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	NPY2R_ENST00000506608.1_Missense_Mutation_p.H258Y	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	258					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGCAAATGACCACTACCATCA	0.483																																					p.H258Y		Atlas-SNP	.											.	NPY2R	87	.	0			c.C772T						PASS	.						105	106	106					4																	156135863		2203	4300	6503	SO:0001583	missense	4887	exon2			AATGACCACTACC	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.772C>T	4.37:g.156135863C>T	ENSP00000332591:p.His258Tyr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077872	0.36662	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37058	1.22;1.22	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.295033	0.37577	N	0.002031	T	0.34571	0.0902	L	0.39085	1.19	0.42996	D	0.994507	B	0.32939	0.391	B	0.34590	0.186	T	0.06197	-1.0840	10	0.36615	T	0.2	.	19.0326	0.92963	0.0:1.0:0.0:0.0	.	258	P49146	NPY2R_HUMAN	Y	258	ENSP00000332591:H258Y;ENSP00000426366:H258Y	ENSP00000332591:H258Y	H	+	1	0	NPY2R	156355313	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	2.361000	0.44160	2.742000	0.94016	0.643000	0.83706	CAC	.	.	none		0.483	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		T	156135863	C	T	156135863	3	4	15	1	0	0	0	0	1	0	0	0	10609	594	21	2	774	2	NPY2R	4	156135863	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	909913	156135863	35018413	89	3709										
GUCY1A3	2982	hgsc.bcm.edu	37	chr4	156634257	156634257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctttccttcataggttatggAcctcaaaggccaaatgatct	7	10	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:156634257A>G	ENST00000296518.7	+	7	1303	c.1094A>G	c.(1093-1095)gAc>gGc	p.D365G	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D365G|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D365G|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D365G|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D365G|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D365G|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D107G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	365					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAGGTTATGGACCTCAAAGGC	0.408																																					p.D365G		Atlas-SNP	.											.	GUCY1A3	133	.	0			c.A1094G						PASS	.						63	61	61					4																	156634257		2203	4300	6503	SO:0001583	missense	2982	exon7			TTATGGACCTCAA		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1094A>G	4.37:g.156634257A>G	ENSP00000296518:p.Asp365Gly	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	113	39	0.345133	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681155	0.88542	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.64402	D	0.000003	D	0.90546	0.7037	L	0.40543	1.245	0.80722	D	1	P;P	0.46142	0.873;0.873	P;P	0.56088	0.791;0.791	D	0.90068	0.4161	10	0.42905	T	0.14	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	365;365	B3KU69;Q02108	.;GCYA3_HUMAN	G	365;365;365;365;107;365;365	ENSP00000424361:D365G;ENSP00000421493:D365G;ENSP00000426968:D365G;ENSP00000412201:D365G;ENSP00000377418:D107G;ENSP00000296518:D365G;ENSP00000426040:D365G	ENSP00000296518:D365G	D	+	2	0	GUCY1A3	156853707	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.930000	0.92872	2.308000	0.77769	0.533000	0.62120	GAC	.	.	none		0.408	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			G	156634257	A	G	156634257	3	3	15	1	0	0	0	0	1	0	0	0	6894	275	10	2	1127	2	GUCY1A3	4	156634257	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	498394	156634257	34520019	90	3710										
PDGFC	56034	hgsc.bcm.edu	37	chr4	157689051	157689051	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggccagaaaatggtatcggtTctctttagttcttcccttat	8	9	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:157689051T>A	ENST00000502773.1	-	5	1285	c.795A>T	c.(793-795)agA>agT	p.R265S	PDGFC_ENST00000541126.1_Missense_Mutation_p.R102S|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.R110S|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	265					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGGTATCGGTTCTCTTTAGTT	0.453																																					p.R265S		Atlas-SNP	.											.	PDGFC	46	.	0			c.A795T						PASS	.						187	171	176					4																	157689051		2203	4299	6502	SO:0001583	missense	56034	exon5			ATCGGTTCTCTTT	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.795A>T	4.37:g.157689051T>A	ENSP00000422464:p.Arg265Ser	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	94	38	0.404255	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076337	0.76415	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.42131	2.56;1.0;0.98	5.35	1.63	0.23807	Platelet-derived growth factor (PDGF) (3);	0.098787	0.64402	D	0.000003	T	0.51398	0.1672	M	0.63428	1.95	0.48087	D	0.999582	D;B	0.57571	0.98;0.124	P;B	0.57846	0.828;0.247	T	0.50154	-0.8861	10	0.56958	D	0.05	-15.9159	9.5005	0.39015	0.0:0.4019:0.0:0.5981	.	110;265	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	S	265;102;110	ENSP00000422464:R265S;ENSP00000442943:R102S;ENSP00000439728:R110S	ENSP00000422464:R265S	R	-	3	2	PDGFC	157908501	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	0.193000	0.17116	0.369000	0.24510	0.533000	0.62120	AGA	.	.	none		0.453	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			A	157689051	T	A	157689051	3	1	15	1	0	0	0	0	1	0	0	0	11659	1780	62	5	250	5	PDGFC	4	157689051	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	1054794	157689051	33465225	91	3711										
FNIP2	57600	hgsc.bcm.edu	37	chr4	159789387	159789387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctctgagctacaagagaaCcagctgacctggagtggcaa	12	10	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:159789387C>T	ENST00000264433.6	+	13	1674	c.1599C>T	c.(1597-1599)aaC>aaT	p.N533N	FNIP2_ENST00000379346.3_Silent_p.N556N	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	533					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TACAAGAGAACCAGCTGACCT	0.493																																					p.N533N		Atlas-SNP	.											.	FNIP2	90	.	0			c.C1599T						PASS	.						92	94	94					4																	159789387		2077	4216	6293	SO:0001819	synonymous_variant	57600	exon13			AGAGAACCAGCTG	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1599C>T	4.37:g.159789387C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_020840	Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	CCDS47155.1																																																																																			.	.	none		0.493	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		T	159789387	C	T	159789387	2	4	15	1	0	0	0	0	0	0	0	1	5976	506	18	2		2	FNIP2	4	159789387	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2100336	159789387	31364889	92	3712										
TLL1	7092	hgsc.bcm.edu	37	chr4	166913969	166913969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctttaaggtggacttggagaCcatgctatgtcaaagaagcg	12	7	1	2	rs377042841		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:166913969C>T	ENST00000061240.2	+	3	941	c.294C>T	c.(292-294)gaC>gaT	p.D98D	TLL1_ENST00000507499.1_Silent_p.D98D|TLL1_ENST00000513213.1_Silent_p.D98D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	98					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GACTTGGAGACCATGCTATGT	0.363																																					p.D98D		Atlas-SNP	.											.	TLL1	194	.	0			c.C294T						PASS	.						131	129	130					4																	166913969		2203	4299	6502	SO:0001819	synonymous_variant	7092	exon3			TGGAGACCATGCT	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.294C>T	4.37:g.166913969C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_001204760	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																			.	.	alt		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166913969	C	T	166913969	2	4	15	1	0	0	0	0	0	0	0	1	15942	506	18	2		2	TLL1	4	166913969	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	7124582	166913969	24240307	93	3713										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccatagccattgaaatggatAagggaacctatatacatgca	8	8	0	1	rs112612436		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																					p.K66E		Atlas-SNP	.											FRG1,arm,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.A196G						scavenged	.						101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483	exon3			ATGGATAAGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic	90	10	0.111111		WXS	Illumina HiSeq	Phase_I	106	17	0.160377	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG	.	.	weak		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	15	1	0	0	0	0	1	0	0	0	6046	363	13	2	206	2	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	23959410	190873379	280897	94	3714										
RNASEN	29102	hgsc.bcm.edu	37	chr5	31521306	31521306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gttgtctcgatgcctgtgtcTctcccgttctcgctctctta	8	14	4	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:31521306T>C	ENST00000511367.2	-	5	1115	c.871A>G	c.(871-873)Aga>Gga	p.R291G	DROSHA_ENST00000513349.1_Missense_Mutation_p.R291G|DROSHA_ENST00000442743.1_Missense_Mutation_p.R291G|DROSHA_ENST00000344624.3_Missense_Mutation_p.R291G	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	291	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGCCTGTGTCTCTCCCGTTCT	0.398																																					p.R291G		Atlas-SNP	.											.	DROSHA	130	.	0			c.A871G						PASS	.						256	236	242					5																	31521306		1899	4117	6016	SO:0001583	missense	29102	exon5			TGTGTCTCTCCCG	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.871A>G	5.37:g.31521306T>C	ENSP00000425979:p.Arg291Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	107	5	0.046729	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179709	0.57800	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000382188	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.95	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.54601	0.967;0.967	D;D	0.63597	0.916;0.916	T	0.56117	-0.8032	10	0.44086	T	0.13	-20.9464	12.9148	0.58200	0.0:0.0:0.1352:0.8648	.	291;291	E7EMP9;Q9NRR4	.;RNC_HUMAN	G	291;291;291;291;284	ENSP00000425979:R291G;ENSP00000339845:R291G;ENSP00000409335:R291G;ENSP00000424161:R291G	ENSP00000339845:R291G	R	-	1	2	DROSHA	31557063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.481000	0.53179	2.279000	0.76181	0.533000	0.62120	AGA	.	.	none		0.398	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		C	31521306	T	C	31521306	3	2	15	1	0	0	0	0	1	0	0	0	13417	1559	54	3	3377	3	RNASEN	5	31521306	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10		31521306	149393954	95	3715										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140186979	140186990	+	In_Frame_Del	DEL	GGGCCGCGGAGG	GGGCCGCGGAGG	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgttccgggtggcgtccaaGggccgcggaggccttctgga					rs67934344|rs200172095|rs563991668|rs3822355|rs3822354|rs17844273|rs3822351|rs3822350|rs3822353|rs3822352|rs386692888|rs543774145|rs201303975|rs386692887	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	GGGCCGCGGAGG	GGGCCGCGGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:140186979_140186990delGGGCCGCGGAGG	ENST00000530339.1	+	1	207_218	c.207_218delGGGCCGCGGAGG	c.(205-219)aagggccgcggaggc>aac	p.69_73KGRGG>N	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_In_Frame_Del_p.69_73KGRGG>N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_In_Frame_Del_p.69_73KGRGG>N	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G72R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCCAAGGGCCGCGGAGGCCTTCTGGAG	0.656																																					p.69_73del		Pindel	.											.	PCDHA4	419	.	2	Substitution - Missense(2)	lung(2)	c.206_217del						PASS	.																																			SO:0001651	inframe_deletion	56144	exon1			.	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.207_218delGGGCCGCGGAGG	5.37:g.140186979_140186990delGGGCCGCGGAGG	ENSP00000435300:p.Lys69_Gly73delinsAsn	Somatic	25	.	.		WXS	Illumina HiSeq	Phase_I	48	20	0.417	NM_031500	O75285|Q2M253	In_Frame_Del	DEL	ENST00000530339.1	37	CCDS54916.1																																																																																			.	.	none		0.656	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		-	140186990	GGGCCGCGGAGG	-	140186979	7	5	15	1	0	1	0	1	0	0	0	0	11526	991	35	0	209	0	PCDHA4	5	140186979	In_Frame_Del	DEL	GGGCCGCGGAGG	TCGA-FF-8061-01A-11D-2210-10	108665673	140186979	40728281	96	3716										
PCDHA10	56139	hgsc.bcm.edu	37	chr5	140236835	140236835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caagctggtgtccacctacaAgaattactactcattggtgc	8	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:140236835A>G	ENST00000307360.5	+	1	1202	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.K401R|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTACAAGAATTACTAC	0.597																																					p.K401R		Atlas-SNP	.											.	PCDHA10	358	.	0			c.A1202G						PASS	.						144	129	134					5																	140236835		2197	4275	6472	SO:0001583	missense	56139	exon1			CCTACAAGAATTA	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1202A>G	5.37:g.140236835A>G	ENSP00000304234:p.Lys401Arg	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	189	77	0.407407	NM_031859	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	9.832	1.188630	0.21954	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51817	4.64;0.69	4.0	1.57	0.23409	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39036	0.1063	L	0.46819	1.47	0.21325	N	0.999726	B;B;B	0.26809	0.086;0.029;0.16	B;B;B	0.32928	0.085;0.03;0.155	T	0.34976	-0.9807	9	0.39692	T	0.17	.	5.0725	0.14613	0.6033:0.1492:0.2475:0.0	.	401;401;401	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	R	401	ENSP00000421030:K401R;ENSP00000304234:K401R	ENSP00000304234:K401R	K	+	2	0	PCDHA10	140217019	0.000000	0.05858	0.999000	0.59377	0.741000	0.42261	0.427000	0.21379	0.653000	0.30826	0.459000	0.35465	AAG	.	.	none		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140236835	A	G	140236835	3	3	15	1	0	0	0	0	1	0	0	0	11520	72	3	3	1204	3	PCDHA10	5	140236835	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	49856	140236835	40678425	97	3717										
HAVCR1	26762	hgsc.bcm.edu	37	chr5	156479523	156479523	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtcgtcagaacagtcgttgtCgttggaatgctcattgttgt	12	7	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:156479523C>T	ENST00000339252.3	-	3	1054	c.522G>A	c.(520-522)acG>acA	p.T174T	HAVCR1_ENST00000522693.1_Silent_p.T174T|HAVCR1_ENST00000425854.1_Silent_p.T174T|HAVCR1_ENST00000523175.1_Silent_p.T174T|HAVCR1_ENST00000544197.1_Silent_p.T174T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.			L -> P (in Ref. 1; AAC39862). {ECO:0000305}.	viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCGTTGTCGTTGGAATGC	0.473																																					p.T174T		Atlas-SNP	.											HAVCR1,NS,carcinoma,-2,1	HAVCR1	84	1	0			c.G522A						scavenged	.						674	657	662					5																	156479523		2126	4240	6366	SO:0001819	synonymous_variant	26762	exon4			CGTTGTCGTTGGA	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.522G>A	5.37:g.156479523C>T		Somatic	396	0	0		WXS	Illumina HiSeq	Phase_I	460	5	0.0108696	NM_001099414	O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																			.	.	none		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			T	156479523	C	T	156479523	2	4	15	1	0	0	0	0	0	0	0	1	6973	871	31	1		1	HAVCR1	5	156479523	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	16242688	156479523	24435737	98	3718										
LCP2	3937	hgsc.bcm.edu	37	chr5	169695446	169695446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gccatcggtctctgggggggCacaggaggctgctggggggt	21	9	1	0	rs2292254	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:169695446C>T	ENST00000046794.5	-	8	1179	c.564G>A	c.(562-564)gtG>gtA	p.V188V	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	188					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCTGGGGGGGCACAGGAGGCT	0.627											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2279	0.455072	0.2927	0.4856	5008	,	,		6718	0.6538		0.4245	False		,,,				2504	0.4796				p.V188V		Atlas-SNP	.											LCP2_ENST00000046794,NS,carcinoma,0,2	LCP2	133	2	0			c.G564A						scavenged	.	C		775,2241		158,459,891	2	3	2		564	3.3	0.8	5	dbSNP_100	2	2547,4561		602,1343,1609	no	coding-synonymous	LCP2	NM_005565.3		760,1802,2500	TT,TC,CC		35.8329,25.6963,32.8131		188/534	169695446	3322,6802	1508	3554	5062	SO:0001819	synonymous_variant	3937	exon8			GGGGGGCACAGGA		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.564G>A	5.37:g.169695446C>T		Somatic	6	4	0.666667	1879	WXS	Illumina HiSeq	Phase_I	5	4	0.8	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																			C|0.530;T|0.470	0.470	strong		0.627	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169695446	C	T	169695446	2	4	15	1	0	0	0	0	0	0	0	1	8692	697	25	2		2	LCP2	5	169695446	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	13215923	169695446	11219814	99	3719										
TLX3	30012	hgsc.bcm.edu	37	chr5	170736474	170736474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caggacagcgcacccgccccGcggggccccgacggcgccag	15	20	0	0	rs2303742	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:170736474G>A	ENST00000296921.5	+	1	187	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	35					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCCGCCCCGCGGGGCCCCG	0.766			T	BCL11B	T-ALL								G|||	14	0.00279553	0.0	0.0	5008	,	,		10162	0.0139		0.0	False		,,,				2504	0.0				p.P35P	Esophageal Squamous(33;43 807 3116 3348 30094)	Atlas-SNP	.		Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	TLX3_ENST00000296921,NS,carcinoma,+2,1	TLX3	23	1	0			c.G105A						scavenged	.						7	10	9					5																	170736474		2127	4181	6308	SO:0001819	synonymous_variant	30012	exon1			CGCCCCGCGGGGC	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.105G>A	5.37:g.170736474G>A		Somatic	4	2	0.5		WXS	Illumina HiSeq	Phase_I	14	12	0.857143	NM_021025	Q96AD3	Silent	SNP	ENST00000296921.5	37	CCDS34288.1																																																																																			G|0.995;A|0.005	0.005	strong		0.766	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			A	170736474	G	A	170736474	2	1	15	1	0	0	0	0	0	0	0	1	15959	1074	38	1		1	TLX3	5	170736474	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1041028	170736474	10178786	100	3720										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc	18	8	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																					p.D948N		Atlas-SNP	.											ADAMTS2,caecum,carcinoma,0,2	ADAMTS2	190	2	0			c.G2842A						scavenged	.						112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509	exon19			TGTTGTCGTGTAG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	121	5	0.0413223	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC	.	.	none		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178552090	C	T	178552090	3	4	15	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	7815616	178552090	2363170	101	3721										
DEK	7913	hgsc.bcm.edu	37	chr6	18249894	18249894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tattttacctcctcttcactTtctttatcttcatcatctga	1	12	7	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:18249894T>G	ENST00000397239.3	-	7	1197	c.750A>C	c.(748-750)gaA>gaC	p.E250D	DEK_ENST00000244776.7_Missense_Mutation_p.E216D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	250	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCTCTTCACTTTCTTTATCTT	0.328			T	NUP214	AML																																p.E250D		Atlas-SNP	.		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	DEK,NS,carcinoma,0,1	DEK	31	1	0			c.A750C						PASS	.						67	63	64					6																	18249894		2201	4298	6499	SO:0001583	missense	7913	exon7			TTCACTTTCTTTA	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.750A>C	6.37:g.18249894T>G	ENSP00000380414:p.Glu250Asp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	89	33	0.370787	NM_003472	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745676	0.49151	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.52754	0.68;0.65	6.17	3.8	0.43715	.	0.698644	0.14633	N	0.307696	T	0.21307	0.0513	L	0.44542	1.39	0.37002	D	0.895305	P;P	0.50443	0.935;0.935	B;B	0.42462	0.388;0.388	T	0.03945	-1.0990	10	0.14252	T	0.57	-0.8892	10.6274	0.45516	0.0:0.1285:0.0:0.8715	.	216;250	B4DN37;P35659	.;DEK_HUMAN	D	250;216;26	ENSP00000380414:E250D;ENSP00000244776:E216D	ENSP00000244776:E216D	E	-	3	2	DEK	18357873	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.118000	0.31246	0.572000	0.29383	-0.256000	0.11100	GAA	.	.	none		0.328	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			G	18249894	T	G	18249894	3	3	15	1	0	0	0	0	1	0	0	0	4424	1838	64	5	397	5	DEK	6	18249894	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10		18249894	152865173	102	3722										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056233	26056233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttcggagttgcgccgccagCcgccttcttgggcttcttgg	13	14	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:26056233C>T	ENST00000343677.2	-	1	466	c.424G>A	c.(424-426)Gct>Act	p.A142T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	142					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCCGCCAGCCGCCTTCTTG	0.577																																					p.A142T		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G424A						PASS	.						61	74	69					6																	26056233		2197	4295	6492	SO:0001583	missense	3006	exon1			CGCCAGCCGCCTT	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.424G>A	6.37:g.26056233C>T	ENSP00000339566:p.Ala142Thr	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	152	9	0.0592105	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789557	0.02884	.	.	ENSG00000187837	ENST00000343677	T	0.14022	2.54	5.54	-9.61	0.00550	.	0.479745	0.21639	N	0.071371	T	0.00936	0.0031	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34725	-0.9817	10	0.02654	T	1	-4.9914	14.0678	0.64841	0.2008:0.6751:0.0:0.1241	.	142	P16403	H12_HUMAN	T	142	ENSP00000339566:A142T	ENSP00000339566:A142T	A	-	1	0	HIST1H1C	26164212	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.462000	0.02364	-1.623000	0.01558	-0.238000	0.12139	GCT	.	.	none		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056233	C	T	26056233	3	4	15	1	0	0	0	0	1	0	0	0	7124	739	26	2	221	2	HIST1H1C	6	26056233	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	7806339	26056233	145058834	103	3723										
HIST1H1B	3009	hgsc.bcm.edu	37	chr6	27834991	27834991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcttgttgagtttaaaggagCcagaagcaccagtgcccttg	11	9	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:27834991C>G	ENST00000331442.3	-	1	368	c.317G>C	c.(316-318)gGc>gCc	p.G106A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	106	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTAAAGGAGCCAGAAGCACC	0.602																																					p.G106A		Atlas-SNP	.											.	HIST1H1B	54	.	0			c.G317C						PASS	.						113	126	121					6																	27834991		2203	4300	6503	SO:0001583	missense	3009	exon1			AAGGAGCCAGAAG	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.317G>C	6.37:g.27834991C>G	ENSP00000330074:p.Gly106Ala	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_005322	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578219	0.86645	.	.	ENSG00000184357	ENST00000331442	T	0.58060	0.36	5.3	4.42	0.53409	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.90977	3.165	0.80722	D	1	D	0.60575	0.988	D	0.67725	0.953	T	0.80647	-0.1289	10	0.87932	D	0	-16.951	15.3154	0.74074	0.0:0.8595:0.1405:0.0	.	106	P16401	H15_HUMAN	A	106	ENSP00000330074:G106A	ENSP00000330074:G106A	G	-	2	0	HIST1H1B	27942970	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	5.792000	0.69052	1.353000	0.45828	0.563000	0.77884	GGC	.	.	none		0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		G	27834991	C	G	27834991	3	3	15	1	0	0	0	0	1	0	0	0	7123	739	26	4	367	4	HIST1H1B	6	27834991	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1778758	27834991	143280076	104	3724										
GPX5	2880	hgsc.bcm.edu	37	chr6	28500106	28500106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcttgttgcaggtatgtccGtccagggggaggatttgtac	16	7	0	0	rs138279209		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:28500106G>A	ENST00000412168.2	+	4	457	c.368G>A	c.(367-369)cGt>cAt	p.R123H	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.V84I	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	123					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AGGTATGTCCGTCCAGGGGGA	0.423																																					p.R123H		Atlas-SNP	.											.	GPX5	42	.	0			c.G368A						PASS	.	G	HIS/ARG,ILE/VAL	0,4406		0,0,2203	139	126	130		368,250	4.2	1	6	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPX5	NM_001509.2,NM_003996.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/222,84/101	28500106	1,13005	2203	4300	6503	SO:0001583	missense	2880	exon4			ATGTCCGTCCAGG	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.368G>A	6.37:g.28500106G>A	ENSP00000392398:p.Arg123His	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	121	95	0.785124	NM_001509	A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.503579|3.503579	0.64298|0.64298	0.0|0.0	1.16E-4|1.16E-4	ENSG00000224586|ENSG00000224586	ENST00000412168|ENST00000469384	T|T	0.04156|0.10192	3.69|2.9	4.16|4.16	4.16|4.16	0.48862|0.48862	Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.03564|0.03564	0.0102|0.0102	.|.	.|.	.|.	0.22581|0.22581	N|N	0.998967|0.998967	D|P	0.89917|0.39847	1.0|0.691	D|B	0.80764|0.28465	0.994|0.09	T|T	0.26744|0.26744	-1.0094|-1.0094	9|8	0.87932|0.66056	D|D	0|0.02	-14.4515|-14.4515	14.7712|14.7712	0.69679|0.69679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123|84	O75715|A1A4Y0	GPX5_HUMAN|.	H|I	123|84	ENSP00000392398:R123H|ENSP00000419935:V84I	ENSP00000392398:R123H|ENSP00000419935:V84I	R|V	+|+	2|1	0|0	GPX5|GPX5	28608085|28608085	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	8.310000|8.310000	0.89971|0.89971	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	CGT|GTC	G|1.000;A|0.000	0.000	weak		0.423	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			A	28500106	G	A	28500106	3	1	15	1	0	0	0	0	1	0	0	0	6743	1145	40	1	382	1	GPX5	6	28500106	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	665115	28500106	142614961	105	3725										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	11	11	3	1	rs139485758	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309				p.Q178H		Atlas-SNP	.											HLA-DRB5,NS,NS,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	NS(1)	c.G534C						scavenged	.						61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127	exon3			TCCATTCTGAATC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His	Somatic	104	5	0.0480769		WXS	Illumina HiSeq	Phase_I	47	24	0.510638	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	A|0.003;C|0.930;G|0.067	0.067	strong		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	15	1	0	0	0	0	1	0	0	0	7209	912	32	4	282	4	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3987159	32487265	138627802	106	3726										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32551948	32551948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtctgcagtaggtgtccaccGcggcccgcgcctgctccagg	14	16	1	0	rs67476479|rs17886882		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:32551948G>A	ENST00000360004.5	-	2	413	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	103	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)		p.A103fs*26(2)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGTGTCCACCGCGGCCCGCGC	0.682										Multiple Myeloma(14;0.17)																											p.A103V		Atlas-SNP	.											HLA-DRB1,brain,glioma,0,2	HLA-DRB1	41	2	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.C308T	GRCh37	CX045849	HLA-DRB1	X	rs17886882	scavenged	.						26	27	26					6																	32551948		2106	4192	6298	SO:0001583	missense	3123	exon2			TCCACCGCGGCCC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.308C>T	6.37:g.32551948G>A	ENSP00000353099:p.Ala103Val	Somatic	95	4	0.0421053		WXS	Illumina HiSeq	Phase_I	28	11	0.392857	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	9.035	0.988355	0.18966	.	.	ENSG00000196126	ENST00000360004	T	0.00277	8.34	3.52	-4.93	0.03066	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.651270	0.02020	N	0.047686	T	0.00039	0.0001	N	0.02379	-0.575	0.09310	N	1	B	0.31274	0.317	B	0.22152	0.038	T	0.35822	-0.9773	10	0.48119	T	0.1	.	10.1847	0.42991	0.0:0.102:0.2902:0.6078	rs17886882;rs28724091	103	P01911	2B1F_HUMAN	V	103	ENSP00000353099:A103V	ENSP00000353099:A103V	A	-	2	0	HLA-DRB1	32659926	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-3.748000	0.00376	-1.340000	0.02227	-3.004000	0.00076	GCG	.	.	weak		0.682	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32551948	G	A	32551948	3	1	15	1	0	0	0	0	1	0	0	0	7208	1087	38	1	512	1	HLA-DRB1	6	32551948	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	64683	32551948	138563119	107	3727										
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713608	32713608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttttccaagtttcctgtgacGctgggtcagcccaacaccct	8	14	1	1	rs199931222		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:32713608G>A	ENST00000374940.3	+	3	474	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCCTGTGACGCTGGGTCAGC	0.512																																					p.T124T		Atlas-SNP	.											HLA-DQA2,colon,carcinoma,+1,1	HLA-DQA2	27	1	0			c.G372A						scavenged	.						199	156	171					6																	32713608		1511	2709	4220	SO:0001819	synonymous_variant	3118	exon3			TGTGACGCTGGGT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.372G>A	6.37:g.32713608G>A		Somatic	316	4	0.0126582		WXS	Illumina HiSeq	Phase_I	346	9	0.0260116	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			G|0.998;A|0.002	0.002	weak		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		A	32713608	G	A	32713608	2	1	15	1	0	0	0	0	0	0	0	1	7205	1074	38	1		1	HLA-DQA2	6	32713608	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	161660	32713608	138401459	108	3728										
C6orf127	340204	hgsc.bcm.edu	37	chr6	35754842	35754842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgccaacgtgctccagacaAttgcgagtcgcactgcgcgg	12	14	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:35754842A>G	ENST00000373861.5	+	2	261	c.167A>G	c.(166-168)aAt>aGt	p.N56S	CLPSL1_ENST00000542261.1_Missense_Mutation_p.N55S			A2RUU4	COLL1_HUMAN	colipase-like 1	56					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GCTCCAGACAATTGCGAGTCG	0.657																																					p.N56S		Atlas-SNP	.											.	.	.	.	0			c.A167G						PASS	.						23	31	28					6																	35754842		2159	4255	6414	SO:0001583	missense	340204	exon2			CAGACAATTGCGA		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.167A>G	6.37:g.35754842A>G	ENSP00000362968:p.Asn56Ser	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	10	0.243902	NM_001010886	A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	A	0.108	-1.141934	0.01728	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.31247	1.5;1.5	2.05	-4.09	0.03951	.	2.100700	0.03133	U	0.165408	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.12477	-1.0546	10	0.33940	T	0.23	.	0.212	0.00157	0.3332:0.2323:0.2143:0.2202	.	56	A2RUU4	CF127_HUMAN	S	56;56;55;9	ENSP00000362968:N56S;ENSP00000438478:N55S	ENSP00000362967:N56S	N	+	2	0	C6orf127	35862820	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.569000	0.00915	-3.437000	0.00163	-3.063000	0.00068	AAT	.	.	none		0.657	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		G	35754842	A	G	35754842	3	3	15	1	0	0	0	0	1	0	0	0	2327	101	4	2	173	2	C6orf127	6	35754842	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	3041234	35754842	135360225	109	3729										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138355	37138355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acatcctggaggttgggatgCtcttgtccaaaatcaactcg	10	10	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:37138355C>T	ENST00000373509.5	+	1	377	c.4C>T	c.(4-6)Ctc>Ttc	p.L2F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	93					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.L2V(1)|p.L2F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGTTGGGATGCTCTTGTCCAA	0.701			T	BCL6	NHL																																p.L93F		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,3	PIM1	71	3	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C277T						PASS	.						30	30	30					6																	37138355		2201	4298	6499	SO:0001583	missense	5292	exon1			GGGATGCTCTTGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.4C>T	6.37:g.37138355C>T	ENSP00000362608:p.Leu2Phe	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	33	10	0.30303	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693535	0.88735	.	.	ENSG00000137193	ENST00000373509	T	0.71222	-0.55	4.05	4.05	0.47172	.	0.000000	0.32147	N	0.006517	T	0.61899	0.2384	N	0.08118	0	0.48830	D	0.999711	D	0.76494	0.999	D	0.66196	0.942	T	0.73933	-0.3826	10	0.72032	D	0.01	.	16.7252	0.85419	0.0:1.0:0.0:0.0	.	93	P11309	PIM1_HUMAN	F	2	ENSP00000362608:L2F	ENSP00000362608:L2F	L	+	1	0	PIM1	37246333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.672000	0.61597	2.211000	0.71520	0.542000	0.68232	CTC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138355	C	T	37138355	3	4	15	1	0	0	0	0	1	0	0	0	11927	797	28	2	6	2	PIM1	6	37138355	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1383513	37138355	133976712	110	3730										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138424	37138424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acgacctgcacgccaccaagCtggcgcccggtgagagcacc	12	17	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:37138424C>T	ENST00000373509.5	+	1	446	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	116					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.L25V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGCCACCAAGCTGGCGCCCGG	0.726			T	BCL6	NHL																																p.L116L		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C346T						scavenged	.						22	24	24					6																	37138424		2196	4289	6485	SO:0001819	synonymous_variant	5292	exon1			ACCAAGCTGGCGC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.73C>T	6.37:g.37138424C>T		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	12	3	0.25	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.726	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138424	C	T	37138424	2	4	15	1	0	0	0	0	0	0	0	1	11927	796	28	2		2	PIM1	6	37138424	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	69	37138424	133976643	111	3731										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38840382	38840382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggttctggaaagacaaccgTtatcacgattctaatgaagg	10	7	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:38840382T>C	ENST00000359357.3	+	48	6664	c.6410T>C	c.(6409-6411)gTt>gCt	p.V2137A	DNAH8_ENST00000449981.2_Missense_Mutation_p.V2354A|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2101A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2137	AAA 2. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGACAACCGTTATCACGATT	0.428																																					p.V2354A		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,+1,2	DNAH8	1239	2	0			c.T7061C						scavenged	.						111	107	108					6																	38840382		2203	4300	6503	SO:0001583	missense	1769	exon50			CAACCGTTATCAC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6410T>C	6.37:g.38840382T>C	ENSP00000352312:p.Val2137Ala	Somatic	76	2	0.0263158		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	10.88	1.475490	0.26511	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57436	0.4;0.4;0.4	5.62	5.62	0.85841	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.284759	0.32719	N	0.005726	T	0.19446	0.0467	N	0.04387	-0.21	0.26201	N	0.979443	P	0.37466	0.596	B	0.40256	0.324	T	0.18209	-1.0344	10	0.31617	T	0.26	.	16.1067	0.81230	0.0:0.0:0.0:1.0	.	2137	Q96JB1	DYH8_HUMAN	A	2342;2342;2137;2101	ENSP00000333363:V2342A;ENSP00000352312:V2137A;ENSP00000402294:V2101A	ENSP00000333363:V2342A	V	+	2	0	DNAH8	38948360	0.048000	0.20356	0.547000	0.28179	0.018000	0.09664	0.859000	0.27858	2.255000	0.74692	0.533000	0.62120	GTT	.	.	none		0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38840382	T	C	38840382	3	2	15	1	0	0	0	0	1	0	0	0	4607	1725	60	2	6592	2	DNAH8	6	38840382	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	1701958	38840382	132274685	112	3732										
NFKBIE	4794	hgsc.bcm.edu	37	chr6	44229533	44229533	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggctggcccccttcagcaccAgtgcccgaactgcgcccggt	12	18	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:44229533A>T	ENST00000275015.5	-	3	937	c.938T>A	c.(937-939)cTg>cAg	p.L313Q		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	313					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCAGCACCAGTGCCCGAAC	0.647																																					p.L313Q		Atlas-SNP	.											.	NFKBIE	31	.	0			c.T938A						PASS	.						30	30	30					6																	44229533		2203	4300	6503	SO:0001583	missense	4794	exon3			AGCACCAGTGCCC	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.938T>A	6.37:g.44229533A>T	ENSP00000275015:p.Leu313Gln	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	56	24	0.428571	NM_004556	Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589276	0.46214	.	.	ENSG00000146232	ENST00000275015	T	0.71579	-0.58	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.083592	0.49916	D	0.000132	D	0.88934	0.6572	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93185	0.6578	10	0.87932	D	0	-19.4802	14.894	0.70630	1.0:0.0:0.0:0.0	.	313	O00221	IKBE_HUMAN	Q	313	ENSP00000275015:L313Q	ENSP00000275015:L313Q	L	-	2	0	NFKBIE	44337511	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.000000	0.58554	0.533000	0.62120	CTG	.	.	none		0.647	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			T	44229533	A	T	44229533	3	4	15	1	0	0	0	0	1	0	0	0	10380	188	7	5	580	5	NFKBIE	6	44229533	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	5389151	44229533	126885534	113	3733										
NFKBIE	4794	hgsc.bcm.edu	37	chr6	44229563	44229564	+	In_Frame_Ins	INS	-	-	GTACAGCCAGATGGA													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgcgcccggttggtccagatINSgtacagccagatggagtgct					rs375743668		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:44229563_44229564insGTACAGCCAGATGGA	ENST00000275015.5	-	3	906_907	c.907_908insTCCATCTGGCTGTAC	c.(907-909)cat>cTCCATCTGGCTGTACat	p.302_303insLHLAV		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	302					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGTCCAGATGTACAGCCAGA	0.614																																					p.H303delinsLHLAVH		Pindel	.											.	NFKBIE	31	.	0			c.908_909insTCCATCTGGCTGTAC						PASS	.																																			SO:0001652	inframe_insertion	4794	exon3			.	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.893_907dupTCCATCTGGCTGTAC	6.37:g.44229563_44229564insGTACAGCCAGATGGA	ENSP00000275015:p.Leu298_Val302dup	Somatic	35	.	.		WXS	Illumina HiSeq	Phase_I	36	10	0.278	NM_004556	Q5T9V9	In_Frame_Ins	INS	ENST00000275015.5	37	CCDS34463.1																																																																																			.	.	none		0.614	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			GTACAGCCAGATGGA	44229564	-	GTACAGCCAGATGGA	44229563	7	5	15	1	0	1	1	0	0	0	0	0	10380	1464	51	0	610	0	NFKBIE	6	44229563	In_Frame_Ins	INS	-	TCGA-FF-8061-01A-11D-2210-10	30	44229563	126885504	114	3734										
COL21A1	81578	hgsc.bcm.edu	37	chr6	55922465	55922465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcatcagacactaatagtttGgtccttttctgaacggatct	8	9	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:55922465G>A	ENST00000244728.5	-	30	3261	c.2864C>T	c.(2863-2865)cCa>cTa	p.P955L	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.P952L|COL21A1_ENST00000535941.1_Missense_Mutation_p.P955L|COL21A1_ENST00000370808.2_Missense_Mutation_p.P321L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	955					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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTAATAGTTTGGTCCTTTTCT	0.468																																					p.P955L		Atlas-SNP	.											.	COL21A1	201	.	0			c.C2864T						PASS	.						84	79	81					6																	55922465		1908	4133	6041	SO:0001583	missense	81578	exon30			TAGTTTGGTCCTT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2864C>T	6.37:g.55922465G>A	ENSP00000244728:p.Pro955Leu	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	106	15	0.141509	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604681	0.46423	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.91792	-2.52;-2.47;-2.51;-2.91	4.62	4.62	0.57501	.	0.000000	0.56097	D	0.000039	D	0.95736	0.8613	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	D	0.96364	0.9268	10	0.87932	D	0	.	17.8313	0.88683	0.0:0.0:1.0:0.0	.	321;955;955;312	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	L	955;952;955;952;321	ENSP00000244728:P955L;ENSP00000359855:P952L;ENSP00000444384:P955L;ENSP00000359844:P321L	ENSP00000244728:P955L	P	-	2	0	COL21A1	56030424	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.527000	0.90594	2.275000	0.75901	0.655000	0.94253	CCA	.	.	none		0.468	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	55922465	G	A	55922465	3	1	15	1	0	0	0	0	1	0	0	0	3680	1348	47	2	13	2	COL21A1	6	55922465	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	11692902	55922465	115192602	115	3735										
TTK	7272	hgsc.bcm.edu	37	chr6	80744802	80744802	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgatagttaccggaacgaaaTagcttatttgaataaactac	7	6	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:80744802T>A	ENST00000369798.2	+	15	1826	c.1715T>A	c.(1714-1716)aTa>aAa	p.I572K	TTK_ENST00000230510.3_Missense_Mutation_p.I571K|TTK_ENST00000509894.1_Missense_Mutation_p.I571K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	572	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CGGAACGAAATAGCTTATTTG	0.279																																					p.I572K		Atlas-SNP	.											.	TTK	199	.	0			c.T1715A						PASS	.						77	83	81					6																	80744802		2199	4288	6487	SO:0001583	missense	7272	exon15			ACGAAATAGCTTA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1715T>A	6.37:g.80744802T>A	ENSP00000358813:p.Ile572Lys	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	127	49	0.385827	NM_003318	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135303	0.77662	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.76448	-1.02;-1.02;-1.02	5.67	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043215	0.85682	D	0.000000	T	0.76506	0.3997	L	0.39085	1.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.80013	-0.1560	10	0.66056	D	0.02	.	12.1537	0.54064	0.0:0.0:0.1433:0.8567	.	572;571	P33981;A8K8U5	TTK_HUMAN;.	K	571;571;572	ENSP00000422936:I571K;ENSP00000230510:I571K;ENSP00000358813:I572K	ENSP00000230510:I571K	I	+	2	0	TTK	80801521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	0.959000	0.37980	0.455000	0.32223	ATA	.	.	none		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80744802	T	A	80744802	3	1	15	1	0	0	0	0	1	0	0	0	16717	1406	49	5	1769	5	TTK	6	80744802	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	24822337	80744802	90370265	116	3736										
PGM3	5238	hgsc.bcm.edu	37	chr6	83898451	83898451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agcatttgctaaacaggtggCatgttcctcccaggatggtg	12	9	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:83898451C>T	ENST00000283977.4	-	2	154	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	PGM3_ENST00000512866.1_Missense_Mutation_p.A91T|PGM3_ENST00000513973.1_Missense_Mutation_p.A91T|PGM3_ENST00000506587.1_Missense_Mutation_p.A119T					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAACAGGTGGCATGTTCCTCC	0.413																																					p.A119T		Atlas-SNP	.											.	PGM3	39	.	0			c.G355A						PASS	.						148	120	129					6																	83898451		2203	4300	6503	SO:0001583	missense	5238	exon4			AGGTGGCATGTTC	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.28G>A	6.37:g.83898451C>T	ENSP00000283977:p.Ala10Thr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_001199917		Missense_Mutation	SNP	ENST00000283977.4	37		.	.	.	.	.	.	.	.	.	.	C	32	5.185099	0.94885	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T;T;T	0.63096	-0.02;-0.02;0.59;-0.02;-0.02;-0.02	5.82	5.82	0.92795	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	H	0.94582	3.555	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.999	D;D;D	0.74348	0.983;0.955;0.974	D	0.87601	0.2497	10	0.87932	D	0	-9.7285	20.0851	0.97797	0.0:1.0:0.0:0.0	.	119;119;91	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	T	91;91;10;119;10;91;119	ENSP00000424874:A91T;ENSP00000421565:A91T;ENSP00000283977:A10T;ENSP00000425809:A119T;ENSP00000425558:A91T;ENSP00000424865:A119T	ENSP00000283977:A10T	A	-	1	0	PGM3	83955170	1.000000	0.71417	0.811000	0.32455	0.624000	0.37722	7.487000	0.81328	2.758000	0.94735	0.650000	0.86243	GCC	.	.	none		0.413	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		T	83898451	C	T	83898451	3	4	15	1	0	0	0	0	1	0	0	0	11800	710	25	2	1401	2	PGM3	6	83898451	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3153649	83898451	87216616	117	3737										
KIAA1009	22832	hgsc.bcm.edu	37	chr6	84895037	84895037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tttgccatagcctgagctccTaactgacgcatataatccac	6	13	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:84895037T>C	ENST00000403245.3	-	13	1645	c.1531A>G	c.(1531-1533)Agg>Ggg	p.R511G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R435G	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CCTGAGCTCCTAACTGACGCA	0.418																																					p.R511G		Atlas-SNP	.											KIAA1009,NS,carcinoma,+2,1	KIAA1009	119	1	0			c.A1531G						scavenged	.						162	162	162					6																	84895037		2203	4300	6503	SO:0001583	missense	22832	exon13			AGCTCCTAACTGA																												ENST00000403245.3:c.1531A>G	6.37:g.84895037T>C	ENSP00000385215:p.Arg511Gly	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	233	6	0.0257511	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777378	0.49786	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.28255	1.62;1.62	5.34	2.85	0.33270	.	0.075344	0.56097	D	0.000029	T	0.38852	0.1056	M	0.74881	2.28	0.29335	N	0.866441	D;D	0.89917	0.972;1.0	P;D	0.85130	0.797;0.997	T	0.33189	-0.9878	10	0.87932	D	0	-12.1305	10.3772	0.44090	0.0:0.0:0.3305:0.6695	.	511;511	Q5TB80;C9JFM9	QN1_HUMAN;.	G	435;511	ENSP00000257766:R435G;ENSP00000385215:R511G	ENSP00000257766:R435G	R	-	1	2	KIAA1009	84951756	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	2.221000	0.42917	0.390000	0.25115	-0.340000	0.08031	AGG	.	.	none		0.418	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84895037	T	C	84895037	3	2	15	1	0	0	0	0	1	0	0	0	8203	1521	53	3	2740	3	KIAA1009	6	84895037	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	996586	84895037	86220030	118	3738										
TBX18	9096	hgsc.bcm.edu	37	chr6	85446456	85446456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagagttaagcttcctagggTcctagagtcaaagaaactct	9	9	2	3	rs145795174		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:85446456T>C	ENST00000369663.5	-	8	2108	c.1771A>G	c.(1771-1773)Acc>Gcc	p.T591A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	591					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTCCTAGGGTCCTAGAGTCA	0.473																																					p.T591A		Atlas-SNP	.											TBX18,NS,carcinoma,+2,1	TBX18	131	1	0			c.A1771G						scavenged	.						60	60	60					6																	85446456		2203	4300	6503	SO:0001583	missense	9096	exon8			CTAGGGTCCTAGA	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1771A>G	6.37:g.85446456T>C	ENSP00000358677:p.Thr591Ala	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	91	3	0.032967	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244057	0.39697	.	.	ENSG00000112837	ENST00000369663	D	0.87809	-2.3	5.41	4.26	0.50523	.	0.214197	0.40385	N	0.001101	T	0.66548	0.2800	N	0.19112	0.55	0.49915	D	0.999832	B	0.06786	0.001	B	0.06405	0.002	T	0.66945	-0.5795	10	0.40728	T	0.16	.	10.6663	0.45732	0.0:0.075:0.0:0.925	.	591	O95935	TBX18_HUMAN	A	591	ENSP00000358677:T591A	ENSP00000358677:T591A	T	-	1	0	TBX18	85503175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.642000	0.67888	2.046000	0.60703	0.477000	0.44152	ACC	T|1.000;A|0.000	.	alt		0.473	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		C	85446456	T	C	85446456	3	2	15	1	0	0	0	0	1	0	0	0	15650	1667	58	2	56	2	TBX18	6	85446456	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	551419	85446456	85668611	119	3739										
RFX6	222546	hgsc.bcm.edu	37	chr6	117248414	117248414	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atagcaccagctctaactacCagactgtgtttagggcacag	9	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:117248414C>T	ENST00000332958.2	+	17	2126	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	704					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTAACTACCAGACTGTGTT	0.507																																					p.Q704X		Atlas-SNP	.											.	RFX6	141	.	0			c.C2110T						PASS	.						137	129	131					6																	117248414		2203	4300	6503	SO:0001587	stop_gained	222546	exon17			AACTACCAGACTG	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2110C>T	6.37:g.117248414C>T	ENSP00000332208:p.Gln704*	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	114	55	0.482456	NM_173560	Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	37	6.417248	0.97550	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.15	5.15	0.70609	.	0.122893	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.9498	13.1466	0.59465	0.0:0.9235:0.0:0.0765	.	.	.	.	X	704	.	ENSP00000332208:Q704X	Q	+	1	0	RFX6	117355107	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.039000	0.64185	2.682000	0.91365	0.655000	0.94253	CAG	.	.	none		0.507	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117248414	C	T	117248414	4	4	15	1	0	0	0	0	0	1	0	0	13267	595	21	2	2176	2	RFX6	6	117248414	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	31801958	117248414	53866653	120	3740										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129636794	129636794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttccagaacaatttgaaggAaagaaggtaagcacaagaac	9	7	0	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:129636794A>G	ENST00000421865.2	+	25	3778	c.3729A>G	c.(3727-3729)ggA>ggG	p.G1243G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1243	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTTGAAGGAAAGAAGGTAA	0.348																																					p.G1243G		Atlas-SNP	.											.	LAMA2	481	.	0			c.A3729G						PASS	.						97	94	95					6																	129636794		2203	4300	6503	SO:0001819	synonymous_variant	3908	exon25			TGAAGGAAAGAAG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3729A>G	6.37:g.129636794A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			.	.	none		0.348	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			G	129636794	A	G	129636794	2	3	15	1	0	0	0	0	0	0	0	1	8606	233	9	2		2	LAMA2	6	129636794	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	12388380	129636794	41478273	121	3741										
ARHGAP18	93663	hgsc.bcm.edu	37	chr6	129939832	129939832	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtttatcatttcatgattacCttttgttttgattttcacag	5	6	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:129939832C>T	ENST00000368149.2	-	6	1040	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TCATGATTACCTTTTGTTTTG	0.373																																					p.D318N		Atlas-SNP	.											ARHGAP18,NS,carcinoma,0,1	ARHGAP18	52	1	0			c.G952A						scavenged	.						76	65	69					6																	129939832		2199	4294	6493	SO:0001630	splice_region_variant	93663	exon6			GATTACCTTTTGT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.952+1G>A	6.37:g.129939832C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	106	2	0.0188679	NM_033515		Missense_Mutation	SNP	ENST00000368149.2	37	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551461	0.65311	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.36	4.5	0.54988	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.154524	0.64402	N	0.000014	T	0.57858	0.2082	M	0.70275	2.135	0.44825	D	0.997837	P;P	0.48911	0.917;0.914	P;P	0.52823	0.584;0.71	T	0.61407	-0.7069	8	.	.	.	.	14.1828	0.65586	0.0:0.9287:0.0:0.0713	.	318;318	A9UK01;Q8N392	.;RHG18_HUMAN	N	273;318	.	.	D	-	1	0	ARHGAP18	129981525	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	6.238000	0.72350	1.492000	0.48499	0.643000	0.83706	GAT	.	.	none		0.373	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	Missense_Mutation	T	129939832	C	T	129939832	5	4	15	1	0	0	0	0	0	0	1	0	868	695	24	2	1079	2	ARHGAP18	6	129939832	Splice_Site	SNP	C	TCGA-FF-8061-01A-11D-2210-10	303038	129939832	41175235	122	3742										
SGK1	6446	hgsc.bcm.edu	37	chr6	134494230	134494230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggaaagagaagtgaaggccCaccaggaaagggtgcttcac	14	8	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:134494230C>A	ENST00000237305.7	-	6	568	c.480G>T	c.(478-480)gtG>gtT	p.V160V	SGK1_ENST00000528577.1_Silent_p.V188V|SGK1_ENST00000413996.3_Silent_p.V174V|SGK1_ENST00000367857.5_Silent_p.V150V|SGK1_ENST00000367858.5_Silent_p.V255V|SGK1_ENST00000475719.2_Intron|SGK1_ENST00000489458.2_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGTGAAGGCCCACCAGGAAAG	0.443																																					p.V255V		Atlas-SNP	.											.	SGK1	387	.	0			c.G765T						PASS	.						96	96	96					6																	134494230		2203	4300	6503	SO:0001819	synonymous_variant	6446	exon8			AAGGCCCACCAGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.480G>T	6.37:g.134494230C>A		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	212	28	0.132075	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	CCDS5170.1																																																																																			.	.	none		0.443	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134494230	C	A	134494230	2	1	15	1	0	0	0	0	0	0	0	1	14207	581	21	4		4	SGK1	6	134494230	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	4554398	134494230	36620837	123	3743										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152679666	152679666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagtttttcagacttggttaCggcttcctataattagcatt	7	7	1	1	rs550088683		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:152679666C>T	ENST00000367255.5	-	66	11051	c.10450G>A	c.(10450-10452)Gta>Ata	p.V3484I	SYNE1_ENST00000265368.4_Missense_Mutation_p.V3484I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3491I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3455I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3491I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3484					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTTGGTTACGGCTTCCTAT	0.363										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16527	0.0		0.0	False		,,,				2504	0.001				p.V3491I		Atlas-SNP	.											SYNE1_ENST00000423061,NS,carcinoma,0,3	SYNE1	3227	3	0			c.G10471A						scavenged	.						95	88	90					6																	152679666		2203	4300	6503	SO:0001583	missense	23345	exon66			TGGTTACGGCTTC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10450G>A	6.37:g.152679666C>T	ENSP00000356224:p.Val3484Ile	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	127	39	0.307087	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624999	0.28889	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53423	0.72;1.37;0.62;1.37;0.64	5.35	3.57	0.40892	.	0.254853	0.27544	N	0.018893	T	0.20536	0.0494	L	0.52364	1.645	0.80722	D	1	B;B;B;B	0.26577	0.04;0.04;0.04;0.153	B;B;B;B	0.22152	0.017;0.017;0.017;0.038	T	0.04216	-1.0968	10	0.28530	T	0.3	.	7.9553	0.30038	0.0:0.6903:0.0:0.3097	.	3484;3484;3484;3491	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3484;3491;3484;3491;3455	ENSP00000356224:V3484I;ENSP00000396024:V3491I;ENSP00000265368:V3484I;ENSP00000390975:V3491I;ENSP00000341887:V3455I	ENSP00000265368:V3484I	V	-	1	0	SYNE1	152721359	1.000000	0.71417	0.457000	0.27056	0.881000	0.50899	2.800000	0.47900	0.647000	0.30713	0.561000	0.74099	GTA	.	.	none		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152679666	C	T	152679666	3	4	15	1	0	0	0	0	1	0	0	0	15442	536	19	1	16340	1	SYNE1	6	152679666	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	18185436	152679666	18435401	124	3744										
TBP	6908	hgsc.bcm.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																					p.Q73Q		Atlas-SNP	.											TBP,NS,carcinoma,0,1	TBP	58	1	1	Substitution - coding silent(1)	endometrium(1)	c.G219A						scavenged	.						17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908	exon3			GCAACAGCAACAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A		Somatic	49	2	0.0408163		WXS	Illumina HiSeq	Phase_I	41	2	0.0487805	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.	.	none		0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	15	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	18191377	170871043	244024	125	3745										
CARD11	84433	hgsc.bcm.edu	37	chr7	2977605	2977605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgttcatgcggtgcttgtacAtttcacagtcctttcccagg	9	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:2977605A>G	ENST00000396946.4	-	8	1482	c.1079T>C	c.(1078-1080)aTg>aCg	p.M360T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	360					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.M353T(1)|p.M353K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTGCTTGTACATTTCACAGTC	0.592			Mis		DLBCL																																p.M360T		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	CARD11,colon,carcinoma,-1,4	CARD11	339	4	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.T1079C						PASS	.						143	116	125					7																	2977605		2203	4300	6503	SO:0001583	missense	84433	exon8			TTGTACATTTCAC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1079T>C	7.37:g.2977605A>G	ENSP00000380150:p.Met360Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663818	0.67700	.	.	ENSG00000198286	ENST00000396946	T	0.32988	1.43	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.54323	1.7	0.58432	D	0.999999	B	0.24823	0.112	B	0.27715	0.082	T	0.12578	-1.0542	10	0.54805	T	0.06	-50.9525	13.8813	0.63684	1.0:0.0:0.0:0.0	.	360	Q9BXL7	CAR11_HUMAN	T	360	ENSP00000380150:M360T	ENSP00000380150:M360T	M	-	2	0	CARD11	2944131	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.048000	0.93830	1.878000	0.54408	0.482000	0.46254	ATG	.	.	none		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2977605	A	G	2977605	3	3	15	1	0	0	0	0	1	0	0	0	2645	217	8	2	2457	2	CARD11	7	2977605	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10		2977605	156161058	126	3746										
NPSR1	387129	hgsc.bcm.edu	37	chr7	34917701	34917701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcccagggtcatccgtctcCgtcagctccaggaggctgcg	12	15	3	0	rs370072027		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:34917701C>T	ENST00000359791.1	+	9	1167	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	NPSR1_ENST00000531252.1_Missense_Mutation_p.R336C	NM_207173.1	NP_997056.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	127						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.R347C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATCCGTCTCCGTCAGCTCCA	0.517																																					p.R347C		Atlas-SNP	.											NPSR1_ENST00000359791,caecum,carcinoma,0,1	NPSR1	134	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1039T						scavenged	.	C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	54	45	48		1039	-4.4	0	7		48	0,8600		0,0,4300	no	missense	NPSR1	NM_207173.1	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		347/378	34917701	2,13004	2203	4300	6503	SO:0001583	missense	387129	exon9			CGTCTCCGTCAGC	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000359791.1:c.1039C>T	7.37:g.34917701C>T	ENSP00000352839:p.Arg347Cys	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	209	3	0.0143541	NM_207173	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000359791.1	37	CCDS5443.1	.	.	.	.	.	.	.	.	.	.	c	6.798	0.516333	0.12944	4.54E-4	0.0	ENSG00000187258	ENST00000359791;ENST00000531252	T;T	0.74106	-0.81;-0.43	2.39	-4.45	0.03546	.	.	.	.	.	T	0.46600	0.1401	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19353	-1.0308	9	0.38643	T	0.18	.	3.8588	0.08986	0.0:0.2351:0.3846:0.3803	.	281;336;347	B7ZMA2;Q6W5P4-5;Q6W5P4-4	.;.;.	C	347;336	ENSP00000352839:R347C;ENSP00000433258:R336C	ENSP00000352839:R347C	R	+	1	0	NPSR1	34884226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.980000	0.01492	-0.981000	0.03520	-0.192000	0.12808	CGT	.	.	weak		0.517	NPSR1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216838.1	NM_207173		T	34917701	C	T	34917701	3	4	15	1	0	0	0	0	1	0	0	0	10600	652	23	1	1168	1	NPSR1	7	34917701	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	31940096	34917701	124220962	127	3747										
ELN	2006	hgsc.bcm.edu	37	chr7	73474235	73474235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gggttagttcctggtgtcggCgtggctcctggagttggcgt	18	8	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:73474235C>T	ENST00000252034.7	+	23	1833	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	ELN_ENST00000380584.4_Silent_p.G445G|ELN_ENST00000357036.5_Silent_p.G483G|ELN_ENST00000429192.1_Silent_p.G464G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Silent_p.G513G|ELN_ENST00000320399.6_Silent_p.G478G|ELN_ENST00000380553.4_Silent_p.G342G|ELN_ENST00000380575.4_Silent_p.G449G|ELN_ENST00000380562.4_Silent_p.G484G|ELN_ENST00000380576.5_Silent_p.G459G|ELN_ENST00000414324.1_Silent_p.G454G|ELN_ENST00000320492.7_Silent_p.G397G|ELN_ENST00000458204.1_Silent_p.G468G|ELN_ENST00000445912.1_Silent_p.G478G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTGGTGTCGGCGTGGCTCCTG	0.572			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.G483G		Atlas-SNP	.		Dom	yes		7	7q11.23	2006	elastin	yes	L	ELN,NS,carcinoma,+2,2	ELN	81	2	0			c.C1449T						scavenged	.						247	236	239					7																	73474235		2203	4300	6503	SO:0001819	synonymous_variant	2006	exon23			TGTCGGCGTGGCT		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1434C>T	7.37:g.73474235C>T		Somatic	122	2	0.0163934		WXS	Illumina HiSeq	Phase_I	155	3	0.0193548	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																			.	.	none		0.572	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		T	73474235	C	T	73474235	2	4	15	1	0	0	0	0	0	0	0	1	5071	755	27	1		1	ELN	7	73474235	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	38556534	73474235	85664428	128	3748										
PCLO	27445	hgsc.bcm.edu	37	chr7	82545106	82545106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atccttttcatgaaggctaaAtgcggtgcttaatgccgctg	10	9	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:82545106A>G	ENST00000333891.9	-	7	12533	c.12196T>C	c.(12196-12198)Ttt>Ctt	p.F4066L	PCLO_ENST00000423517.2_Missense_Mutation_p.F4066L|PCLO_ENST00000437081.1_Missense_Mutation_p.F786L	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						TGAAGGCTAAATGCGGTGCTT	0.438																																					p.F4066L		Atlas-SNP	.											.	PCLO	1506	.	0			c.T12196C						PASS	.						94	83	86					7																	82545106		1946	4159	6105	SO:0001583	missense	27445	exon7			GGCTAAATGCGGT	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.12196T>C	7.37:g.82545106A>G	ENSP00000334319:p.Phe4066Leu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067747	0.55539	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16457	2.34;2.34	5.84	5.84	0.93424	.	.	.	.	.	T	0.31040	0.0784	L	0.59436	1.845	0.51482	D	0.999927	P;D;D	0.61697	0.78;0.99;0.99	B;P;P	0.52514	0.192;0.701;0.701	T	0.02378	-1.1168	9	0.87932	D	0	.	16.2109	0.82158	1.0:0.0:0.0:0.0	.	3997;4066;4066	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	4066;4066;786	ENSP00000334319:F4066L;ENSP00000388393:F4066L	ENSP00000334319:F4066L	F	-	1	0	PCLO	82383042	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	9.339000	0.96797	2.230000	0.72887	0.455000	0.32223	TTT	.	.	none		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82545106	A	G	82545106	3	3	15	1	0	0	0	0	1	0	0	0	11583	101	4	2	3325	2	PCLO	7	82545106	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	9070871	82545106	76593557	129	3749										
PCLO	27445	hgsc.bcm.edu	37	chr7	82784833	82784833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaggcttctctgacccagtcTgctgagctggaggcttagca	12	11	2	2	rs71074627		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:82784833T>G	ENST00000333891.9	-	2	1461	c.1124A>C	c.(1123-1125)cAg>cCg	p.Q375P	PCLO_ENST00000423517.2_Missense_Mutation_p.Q375P	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						TGACCCAGTCTGCTGAGCTGG	0.587																																					p.Q375P		Atlas-SNP	.											Q9Y6V0-3,NS,carcinoma,+1,2	PCLO	1506	2	0			c.A1124C						scavenged	.						51	52	52					7																	82784833		1971	4166	6137	SO:0001583	missense	27445	exon2			CCAGTCTGCTGAG	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.1124A>C	7.37:g.82784833T>G	ENSP00000334319:p.Gln375Pro	Somatic	148	5	0.0337838		WXS	Illumina HiSeq	Phase_I	146	7	0.0479452	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	3.271	-0.149197	0.06585	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.28	-1.91	0.07641	.	.	.	.	.	T	0.13243	0.0321	L	0.39898	1.24	0.22001	N	0.999425	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.32929	-0.9888	9	0.87932	D	0	.	8.2544	0.31746	0.2246:0.0:0.4622:0.3132	.	375;375	Q9Y6V0-5;Q9Y6V0-6	.;.	P	375	ENSP00000334319:Q375P;ENSP00000388393:Q375P	ENSP00000334319:Q375P	Q	-	2	0	PCLO	82622769	0.976000	0.34144	0.001000	0.08648	0.658000	0.38924	1.551000	0.36233	-0.136000	0.11475	-0.264000	0.10439	CAG	.	.	none		0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82784833	T	G	82784833	3	3	15	1	0	0	0	0	1	0	0	0	11583	1580	55	5	14417	5	PCLO	7	82784833	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	239727	82784833	76353830	130	3750										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91625060	91625060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gattatcagaaaaagaaagaAgacttcacaatgcaaattag	7	5	2	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:91625060A>C	ENST00000359028.2	+	8	1137	c.912A>C	c.(910-912)gaA>gaC	p.E304D	AKAP9_ENST00000356239.3_Missense_Mutation_p.E292D|AKAP9_ENST00000394564.1_Missense_Mutation_p.E292D|AKAP9_ENST00000358100.2_Missense_Mutation_p.E304D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	304					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGAAAGAAGACTTCACAA	0.343			T	BRAF	papillary thyroid																																p.E292D		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	AKAP9_ENST00000356239,NS,carcinoma,+2,2	AKAP9	788	2	0			c.A876C						PASS	.						67	63	64					7																	91625060		2203	4300	6503	SO:0001583	missense	10142	exon7			GAAAGAAGACTTC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.912A>C	7.37:g.91625060A>C	ENSP00000351922:p.Glu304Asp	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	38	15	0.394737	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	13.26	2.183510	0.38609	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.1	2.75	0.32379	.	0.000000	0.42682	D	0.000674	T	0.50000	0.1590	L	0.59436	1.845	0.36863	D	0.888493	B;B;D;B	0.69078	0.42;0.42;0.997;0.011	B;B;D;B	0.69654	0.087;0.087;0.965;0.009	T	0.54268	-0.8319	10	0.56958	D	0.05	.	8.6538	0.34051	0.8413:0.0:0.1587:0.0	.	292;292;304;292	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	D	292;304;304;304;304;292	ENSP00000348573:E292D;ENSP00000351922:E304D;ENSP00000350813:E304D;ENSP00000378065:E292D	ENSP00000348573:E292D	E	+	3	2	AKAP9	91462996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.124000	0.42006	0.384000	0.24942	0.533000	0.62120	GAA	.	.	none		0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91625060	A	C	91625060	3	2	15	1	0	0	0	0	1	0	0	0	459	69	3	5	902	5	AKAP9	7	91625060	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	8840227	91625060	67513603	131	3751										
CALCR	799	hgsc.bcm.edu	37	chr7	93108736	93108736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtgcatccatcatcttcttTcgtcctacgacgtaaagaaa	6	11	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:93108736T>C	ENST00000394441.1	-	3	450	c.135A>G	c.(133-135)cgA>cgG	p.R45R	CALCR_ENST00000421592.1_Silent_p.R45R|CALCR_ENST00000359558.2_Silent_p.R63R|CALCR_ENST00000360249.4_Silent_p.R45R|CALCR_ENST00000426151.1_Silent_p.R45R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCATCTTCTTTCGTCCTACGA	0.403																																					p.R63R		Atlas-SNP	.											CALCR_ENST00000359558,rectum,carcinoma,-1,7	CALCR	200	7	0			c.A189G						scavenged	.						250	231	238					7																	93108736		2203	4300	6503	SO:0001819	synonymous_variant	799	exon5			CTTCTTTCGTCCT	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.135A>G	7.37:g.93108736T>C		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	283	4	0.0141343	NM_001164737	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																			.	.	none		0.403	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		C	93108736	T	C	93108736	2	2	15	1	0	0	0	0	0	0	0	1	2579	1770	62	2		2	CALCR	7	93108736	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	1483676	93108736	66029927	132	3752										
RNF133	168433	hgsc.bcm.edu	37	chr7	122338692	122338692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aggtctctgagtactttgatCggctgaaaatggtattggga	13	5	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:122338692C>T	ENST00000340112.2	-	1	518	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	94	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTACTTTGATCGGCTGAAAAT	0.458																																					p.R94Q	Colon(198;1778 2057 7449 19869 45985)	Atlas-SNP	.											.	RNF133	41	.	0			c.G281A						PASS	.						157	168	164					7																	122338692		2203	4299	6502	SO:0001583	missense	168433	exon1			TTTGATCGGCTGA	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.281G>A	7.37:g.122338692C>T	ENSP00000344489:p.Arg94Gln	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	73	26	0.356164	NM_139175	A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656505	0.29425	.	.	ENSG00000188050	ENST00000340112	T	0.14516	2.5	5.79	-5.14	0.02875	.	1.811660	0.03352	N	0.196336	T	0.13200	0.0320	M	0.66939	2.045	0.09310	N	1	P	0.50943	0.94	B	0.43867	0.434	T	0.39820	-0.9595	10	0.14252	T	0.57	.	2.5082	0.04650	0.1832:0.2353:0.0878:0.4937	.	94	Q8WVZ7	RN133_HUMAN	Q	94	ENSP00000344489:R94Q	ENSP00000344489:R94Q	R	-	2	0	RNF133	122125928	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-0.849000	0.04322	-1.082000	0.03101	0.655000	0.94253	CGA	.	.	none		0.458	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		T	122338692	C	T	122338692	3	4	15	1	0	0	0	0	1	0	0	0	13439	884	31	1	853	1	RNF133	7	122338692	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	29229956	122338692	36799971	133	3753										
ZNF775	285971	hgsc.bcm.edu	37	chr7	150094853	150094853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tccccgggggcccgggacacGctgtggggccggggacaagc	19	14	0	0	rs7780011	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr7:150094853G>A	ENST00000329630.5	+	3	1391	c.1284G>A	c.(1282-1284)acG>acA	p.T428T		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	428			T -> A (in dbSNP:rs13225910).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGGGACACGCTGTGGGGCC	0.751													G|||	2293	0.457867	0.5514	0.5677	5008	,	,		7268	0.3115		0.4563	False		,,,				2504	0.4059				p.T428T		Atlas-SNP	.											ZNF775,NS,carcinoma,0,1	ZNF775	34	1	0			c.G1284A						scavenged	.	G		1766,1896		496,774,561	4	5	5		1284	-3.5	0	7	dbSNP_116	5	3387,4247		854,1679,1284	no	coding-synonymous	ZNF775	NM_173680.3		1350,2453,1845	AA,AG,GG		44.3673,48.225,45.6179		428/538	150094853	5153,6143	1831	3817	5648	SO:0001819	synonymous_variant	285971	exon3			GGACACGCTGTGG	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1284G>A	7.37:g.150094853G>A		Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	3	3	1	NM_173680	Q8IY24	Silent	SNP	ENST00000329630.5	37	CCDS43678.1																																																																																			G|0.551;A|0.449	0.449	strong		0.751	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		A	150094853	G	A	150094853	2	1	15	1	0	0	0	0	0	0	0	1	18145	1074	38	1		1	ZNF775	7	150094853	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	27756161	150094853	9043810	134	3754										
VDAC3	7419	hgsc.bcm.edu	37	chr8	42259311	42259311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtttgtttattgcagaaagaAgagtgggaaattgaaggcct	13	3	0	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:42259311A>G	ENST00000022615.4	+	7	397	c.329A>G	c.(328-330)aAg>aGg	p.K110R	VDAC3_ENST00000522572.1_Missense_Mutation_p.K111R|VDAC3_ENST00000521158.1_Missense_Mutation_p.K111R|VDAC3_ENST00000392935.3_Missense_Mutation_p.K111R			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	110					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGCAGAAAGAAGAGTGGGAAA	0.373																																					p.K111R		Atlas-SNP	.											VDAC3,colon,carcinoma,-1,1	VDAC3	17	1	0			c.A332G						scavenged	.						103	103	103					8																	42259311		2203	4300	6503	SO:0001583	missense	7419	exon7			GAAAGAAGAGTGG	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.329A>G	8.37:g.42259311A>G	ENSP00000022615:p.Lys110Arg	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	176	2	0.0113636	NM_001135694	Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883090	0.72410	.	.	ENSG00000078668	ENST00000518563;ENST00000392935;ENST00000520115;ENST00000522069;ENST00000522572;ENST00000521158;ENST00000022615	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.64	5.64	0.86602	.	0.042971	0.85682	D	0.000000	T	0.59362	0.2188	M	0.80332	2.49	0.80722	D	1	P	0.41313	0.745	P	0.46389	0.515	T	0.63501	-0.6623	10	0.51188	T	0.08	-6.3726	14.1449	0.65344	1.0:0.0:0.0:0.0	.	110	Q9Y277	VDAC3_HUMAN	R	78;111;110;110;111;111;110	ENSP00000428977:K78R;ENSP00000442811:K111R;ENSP00000428519:K110R;ENSP00000429006:K110R;ENSP00000428029:K111R;ENSP00000428845:K111R;ENSP00000022615:K110R	ENSP00000022615:K110R	K	+	2	0	VDAC3	42378468	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	2.284000	0.76573	0.529000	0.55759	AAG	.	.	none		0.373	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			G	42259311	A	G	42259311	3	3	15	1	0	0	0	0	1	0	0	0	17145	72	3	3	350	3	VDAC3	8	42259311	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10		42259311	104104711	135	3755										
ST18	9705	hgsc.bcm.edu	37	chr8	53079501	53079501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgtgtcccgtgccatcacatCcagggatcgggcacttggtc	12	14	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:53079501C>T	ENST00000276480.7	-	11	1798	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	372					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G372E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCATCACATCCAGGGATCGG	0.532																																					p.G372E		Atlas-SNP	.											ST18,extremity,malignant_melanoma,0,1	ST18	212	1	1	Substitution - Missense(1)	skin(1)	c.G1115A						scavenged	.						135	138	137					8																	53079501		2203	4300	6503	SO:0001583	missense	9705	exon11			TCACATCCAGGGA	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1115G>A	8.37:g.53079501C>T	ENSP00000276480:p.Gly372Glu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	120	4	0.0333333	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908433	0.92107	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.75154	-0.35;-0.91	5.57	5.57	0.84162	.	0.108001	0.64402	D	0.000006	D	0.90638	0.7064	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92805	0.6259	10	0.87932	D	0	-17.2591	19.5372	0.95257	0.0:1.0:0.0:0.0	.	372;372	E5RHS3;O60284	.;ST18_HUMAN	E	372	ENSP00000276480:G372E;ENSP00000428521:G372E	ENSP00000276480:G372E	G	-	2	0	ST18	53242054	1.000000	0.71417	0.775000	0.31657	0.799000	0.45148	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	GGA	.	.	none		0.532	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53079501	C	T	53079501	3	4	15	1	0	0	0	0	1	0	0	0	15211	855	30	2	2092	2	ST18	8	53079501	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	10820190	53079501	93284521	136	3756										
LYN	4067	hgsc.bcm.edu	37	chr8	56910951	56910951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcggaagaactacattcaccGggacctgcgagcagctaatg	12	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:56910951G>A	ENST00000519728.1	+	11	1393	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000520220.2_Missense_Mutation_p.R345Q	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TACATTCACCGGGACCTGCGA	0.448																																					p.R366Q		Atlas-SNP	.											.	LYN	54	.	0			c.G1097A						PASS	.						115	110	112					8																	56910951		2203	4300	6503	SO:0001583	missense	4067	exon11			TTCACCGGGACCT	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1097G>A	8.37:g.56910951G>A	ENSP00000428924:p.Arg366Gln	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	187	65	0.347594	NM_002350	A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851905	0.97023	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.88354	-2.37;-2.37	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.98468	1.0599	10	0.87932	D	0	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	436;366	Q6NUK7;P07948	.;LYN_HUMAN	Q	366;345	ENSP00000428924:R366Q;ENSP00000428424:R345Q	ENSP00000428924:R366Q	R	+	2	0	LYN	57073505	1.000000	0.71417	0.688000	0.30117	0.945000	0.59286	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	CGG	.	.	none		0.448	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		A	56910951	G	A	56910951	3	1	15	1	0	0	0	0	1	0	0	0	9107	1116	39	1	1135	1	LYN	8	56910951	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3831450	56910951	89453071	137	3757										
NSMAF	8439	hgsc.bcm.edu	37	chr8	59571856	59571856	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gccgggacctgcactgccggAtagctcggcatgcctcggct	14	15	0	0	rs59606339	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:59571856A>C	ENST00000038176.3	-	1	272				NSMAF_ENST00000427130.2_Missense_Mutation_p.I17S|snoU13_ENST00000459488.1_RNA	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCACTGCCGGATAGCTCGGCA	0.761													C|||	1348	0.269169	0.4697	0.1037	5008	,	,		10863	0.497		0.0467	False		,,,				2504	0.1094				p.I17S		Atlas-SNP	.											NSMAF_ENST00000427130,NS,carcinoma,0,2	NSMAF	156	2	0			c.T50G						PASS	.						4	7	6					8																	59571856		613	1513	2126	SO:0001627	intron_variant	8439	exon1			TGCCGGATAGCTC	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.59+275T>G	8.37:g.59571856A>C		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_001144772	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	496	0.2271062271062271	186	0.3780487804878049	31	0.0856353591160221	244	0.42657342657342656	35	0.04617414248021108	C	0.151	-1.090991	0.01858	.	.	ENSG00000035681	ENST00000427130	T	0.55413	0.52	1.89	-0.128	0.13506	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45308	-0.9270	6	.	.	.	.	0.796	0.01066	0.2394:0.3623:0.2355:0.1628	rs59606339	17	Q92636-2	.	S	17	ENSP00000411012:I17S	.	I	-	2	0	NSMAF	59734410	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.459000	0.21908	-0.396000	0.07703	-0.358000	0.07595	ATC	A|0.754;C|0.246	0.246	strong		0.761	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		C	59571856	A	C	59571856	1	2	15	0	1	0	0	0	0	0	0	0	10674	333	12	5		5	NSMAF	8	59571856	Intron	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2660905	59571856	86792166	138	3758										
CLVS1	157807	hgsc.bcm.edu	37	chr8	62289218	62289218	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgtcattggaagtcctaatCgaagatccggagcttcagat	10	9	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:62289218C>T	ENST00000519846.1	+	4	982	c.510C>T	c.(508-510)atC>atT	p.I170I	CLVS1_ENST00000325897.4_Silent_p.I170I|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	170	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AAGTCCTAATCGAAGATCCGG	0.438																																					p.I170I		Atlas-SNP	.											CLVS1,NS,carcinoma,+2,1	CLVS1	74	1	0			c.C510T						PASS	.						112	106	108					8																	62289218		2203	4300	6503	SO:0001819	synonymous_variant	157807	exon3			CCTAATCGAAGAT	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.510C>T	8.37:g.62289218C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	89	32	0.359551	NM_173519	B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																			.	.	none		0.438	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		T	62289218	C	T	62289218	2	4	15	1	0	0	0	0	0	0	0	1	3571	874	31	1		1	CLVS1	8	62289218	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2717362	62289218	84074804	139	3759										
GGH	8836	hgsc.bcm.edu	37	chr8	63951312	63951312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcccagcacgcacagcaggcAgcccggactggccatggcgc	14	17	0	0	rs1800909	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:63951312A>G	ENST00000260118.6	-	1	418	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	6			C -> R (in dbSNP:rs1800909).		glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CACAGCAGGCAGCCCGGACTG	0.716													G|||	1161	0.231829	0.1672	0.2277	5008	,	,		10294	0.2192		0.2793	False		,,,				2504	0.2863				p.C6R		Atlas-SNP	.											.	GGH	32	.	0			c.T16C						PASS	.	G	ARG/CYS	752,3574		76,600,1487	10	10	10		16	1.1	0	8	dbSNP_89	10	2198,6302		290,1618,2342	no	missense	GGH	NM_003878.2	180	366,2218,3829	GG,GA,AA		25.8588,17.3833,23.0002	benign	6/319	63951312	2950,9876	2163	4250	6413	SO:0001583	missense	8836	exon1			GCAGGCAGCCCGG	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.16T>C	8.37:g.63951312A>G	ENSP00000260118:p.Cys6Arg	Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	13	9	0.692308	NM_003878		Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	512	0.23443223443223443	88	0.17886178861788618	83	0.2292817679558011	127	0.22202797202797203	214	0.28232189973614774	G	6.061	0.379536	0.11466	0.173833	0.258588	ENSG00000137563	ENST00000260118	T	0.21191	2.02	4.12	1.06	0.20224	.	1.412970	0.04201	N	0.329979	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42258	-0.9462	9	0.24483	T	0.36	-3.9473	1.5309	0.02535	0.1969:0.1633:0.4721:0.1677	rs1800909	6	Q92820	GGH_HUMAN	R	6	ENSP00000260118:C6R	ENSP00000260118:C6R	C	-	1	0	GGH	64113866	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.797000	0.26999	-0.133000	0.11537	-0.684000	0.03749	TGC	A|0.769;G|0.231	0.231	strong		0.716	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			G	63951312	A	G	63951312	3	3	15	1	0	0	0	0	1	0	0	0	6357	188	7	3	976	3	GGH	8	63951312	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	1662094	63951312	82412710	140	3760										
NBN	4683	hgsc.bcm.edu	37	chr8	90967770	90967770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gactttgatttcttttggccTttcactcaaatccctgtaga	6	10	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:90967770T>C	ENST00000265433.3	-	10	1292	c.1138A>G	c.(1138-1140)Agg>Ggg	p.R380G	NBN_ENST00000409330.1_Missense_Mutation_p.R298G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	380	Interaction with MTOR, MAPKAP1 and RICTOR.				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)			TCTTTTGGCCTTTCACTCAAA	0.338								Homologous recombination																													p.R380G		Atlas-SNP	.											.	NBN	86	.	0			c.A1138G						PASS	.						74	69	71					8																	90967770		2202	4298	6500	SO:0001583	missense	4683	exon10			TTGGCCTTTCACT	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.1138A>G	8.37:g.90967770T>C	ENSP00000265433:p.Arg380Gly	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	8.917	0.960201	0.18507	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.59083	1.95;0.29	5.45	5.45	0.79879	.	1.198520	0.05445	N	0.548399	T	0.54902	0.1887	L	0.51422	1.61	0.32695	N	0.513694	B;B	0.27450	0.179;0.179	B;B	0.24269	0.036;0.052	T	0.48080	-0.9066	10	0.24483	T	0.36	-0.1736	11.9007	0.52682	0.0:0.0:0.0:1.0	.	380;380	A6H8Y5;O60934	.;NBN_HUMAN	G	380;298;380	ENSP00000265433:R380G;ENSP00000386924:R298G	ENSP00000265433:R380G	R	-	1	2	NBN	91036946	0.946000	0.32159	0.941000	0.38009	0.575000	0.36095	1.542000	0.36137	2.063000	0.61619	0.528000	0.53228	AGG	.	.	none		0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		C	90967770	T	C	90967770	3	2	15	1	0	0	0	0	1	0	0	0	10191	1608	56	3	1154	3	NBN	8	90967770	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	27016458	90967770	55396252	141	3761										
RIMS2	9699	hgsc.bcm.edu	37	chr8	104513174	104513174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atcccggcggcctctcagccGcctctgcagcccgagatgcc	11	19	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:104513174G>A	ENST00000406091.3	+	1	60	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	20					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTCTCAGCCGCCTCTGCAGC	0.647										HNSCC(12;0.0054)																											p.P20P		Atlas-SNP	.											.	RIMS2	1357	.	0			c.G60A						PASS	.						22	25	24					8																	104513174		1877	4089	5966	SO:0001819	synonymous_variant	9699	exon1			TCAGCCGCCTCTG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.60G>A	8.37:g.104513174G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	93	6	0.0645161	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	CCDS55269.1																																																																																			.	.	none		0.647	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		A	104513174	G	A	104513174	2	1	15	1	0	0	0	0	0	0	0	1	13368	1074	38	1		1	RIMS2	8	104513174	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	13545404	104513174	41850848	142	3762										
LRP12	29967	hgsc.bcm.edu	37	chr8	105509255	105509255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agtacatcccaatgctatgaCgagtaacaggccacagatga	9	10	0	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:105509255C>T	ENST00000276654.5	-	5	1633	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.V490I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	509					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGACGAGTAACAGG	0.463																																					p.V509I		Atlas-SNP	.											LRP12,NS,adenocarcinoma,0,1	LRP12	124	1	0			c.G1525A						scavenged	.						119	102	108					8																	105509255		2203	4300	6503	SO:0001583	missense	29967	exon5			CTATGACGAGTAA	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1525G>A	8.37:g.105509255C>T	ENSP00000276654:p.Val509Ile	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	153	3	0.0196078	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113913	0.94339	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94457	-2.11;-2.06;-3.43	5.79	5.79	0.91817	.	0.053779	0.64402	D	0.000001	D	0.94551	0.8245	M	0.71581	2.175	0.80722	D	1	P;P	0.49635	0.926;0.88	B;B	0.43225	0.412;0.234	D	0.94830	0.7995	10	0.66056	D	0.02	-18.8391	20.0498	0.97621	0.0:1.0:0.0:0.0	.	490;509	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	I	490;509;98	ENSP00000399148:V490I;ENSP00000276654:V509I;ENSP00000429305:V98I	ENSP00000276654:V509I	V	-	1	0	LRP12	105578431	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.753000	0.94483	0.557000	0.71058	GTC	.	.	none		0.463	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105509255	C	T	105509255	3	4	15	1	0	0	0	0	1	0	0	0	8954	536	19	1	1066	1	LRP12	8	105509255	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	996081	105509255	40854767	143	3763										
PHF20L1	51105	hgsc.bcm.edu	37	chr8	133844572	133844572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggagttctctggcttcacgaAgcatgtttacggagaaaact	11	8	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:133844572A>G	ENST00000395386.2	+	15	2136	c.1837A>G	c.(1837-1839)Agc>Ggc	p.S613G	PHF20L1_ENST00000395390.2_Missense_Mutation_p.S588G|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	613							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGCTTCACGAAGCATGTTTAC	0.423																																					p.S613G		Atlas-SNP	.											Q86U89_HUMAN,NS,carcinoma,-2,2	PHF20L1	129	2	0			c.A1837G						scavenged	.						173	159	163					8																	133844572		1865	4102	5967	SO:0001583	missense	51105	exon15			TCACGAAGCATGT	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1837A>G	8.37:g.133844572A>G	ENSP00000378784:p.Ser613Gly	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	101	3	0.029703	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868283	0.51588	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.32753	1.45;1.44	5.56	5.56	0.83823	.	0.240370	0.32593	N	0.005887	T	0.30541	0.0768	L	0.47716	1.5	0.80722	D	1	B;B	0.32101	0.356;0.243	B;B	0.33454	0.164;0.079	T	0.05484	-1.0882	10	0.40728	T	0.16	-37.066	15.1885	0.73023	1.0:0.0:0.0:0.0	.	588;613	F8W9L8;A8MW92	.;P20L1_HUMAN	G	613;588	ENSP00000378784:S613G;ENSP00000378788:S588G	ENSP00000378784:S613G	S	+	1	0	PHF20L1	133913754	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.059000	0.76684	2.244000	0.73946	0.528000	0.53228	AGC	.	.	none		0.423	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133844572	A	G	133844572	3	3	15	1	0	0	0	0	1	0	0	0	11832	72	3	3	1987	3	PHF20L1	8	133844572	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	28335317	133844572	12519450	144	3764										
FAM135B	51059	hgsc.bcm.edu	37	chr8	139163898	139163898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttgatggcatcagcagctgaCgtacagctcaattcaggcac	10	11	3	2	rs529502221		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:139163898C>T	ENST00000395297.1	-	13	2990	c.2820G>A	c.(2818-2820)acG>acA	p.T940T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	940										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGCAGCTGACGTACAGCTCA	0.483										HNSCC(54;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.001				p.T940T		Atlas-SNP	.											LOC51059,NS,carcinoma,-1,6	FAM135B	423	6	0			c.G2820A						scavenged	.						142	120	127					8																	139163898		2203	4300	6503	SO:0001819	synonymous_variant	51059	exon13			AGCTGACGTACAG	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2820G>A	8.37:g.139163898C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			.	.	none		0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139163898	C	T	139163898	2	4	15	1	0	0	0	0	0	0	0	1	5449	523	19	1		1	FAM135B	8	139163898	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	5319326	139163898	7200124	145	3765										
GPR20	2843	hgsc.bcm.edu	37	chr8	142367400	142367400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aacacgctgatgaccagcagGggcagcaggaactccaggac	13	12	0	2	rs11167054	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:142367400G>A	ENST00000377741.3	-	2	714	c.624C>T	c.(622-624)ccC>ccT	p.P208P	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	208					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGACCAGCAGGGGCAGCAGGA	0.701													A|||	3770	0.752796	0.8533	0.8573	5008	,	,		17946	0.5099		0.8171	False		,,,				2504	0.727				p.P208P		Atlas-SNP	.											GPR20,NS,carcinoma,0,2	GPR20	43	2	0			c.C624T						scavenged	.	A		3616,550		1570,476,37	10	11	11		624	-8.4	0.7	8	dbSNP_120	11	6656,1574		2708,1240,167	no	coding-synonymous	GPR20	NM_005293.2		4278,1716,204	AA,AG,GG		19.1252,13.2021,17.1346		208/359	142367400	10272,2124	2083	4115	6198	SO:0001819	synonymous_variant	2843	exon2			CAGCAGGGGCAGC	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.624C>T	8.37:g.142367400G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	2	2	1	NM_005293	Q17R96	Silent	SNP	ENST00000377741.3	37	CCDS34949.1																																																																																			G|0.248;A|0.752	0.752	strong		0.701	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367400	G	A	142367400	2	1	15	1	0	0	0	0	0	0	0	1	6680	1219	43	2		2	GPR20	8	142367400	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3203502	142367400	3996622	146	3766										
BAI1	575	hgsc.bcm.edu	37	chr8	143625724	143625724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtggagtgggagaggtcgggCgccacgatcccgctggtggg	21	9	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:143625724C>T	ENST00000517894.1	+	31	5595	c.4701C>T	c.(4699-4701)ggC>ggT	p.G1567G	BAI1_ENST00000323289.5_Silent_p.G1567G			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1567	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGAGGTCGGGCGCCACGATCC	0.706																																					p.G1567G		Atlas-SNP	.											.	BAI1	146	.	0			c.C4701T						PASS	.						13	23	19					8																	143625724		1749	3389	5138	SO:0001819	synonymous_variant	575	exon30			GTCGGGCGCCACG	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4701C>T	8.37:g.143625724C>T		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	43	20	0.465116	NM_001702		Silent	SNP	ENST00000517894.1	37																																																																																				.	.	none		0.706	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143625724	C	T	143625724	2	4	15	1	0	0	0	0	0	0	0	1	1298	755	27	1		1	BAI1	8	143625724	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1258324	143625724	2738298	147	3767										
FAM83H	286077	hgsc.bcm.edu	37	chr8	144809804	144809804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggagccagcacgtcgtcttcGtaagcctccgcttccatggg	12	14	1	0	rs13254035	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:144809804G>A	ENST00000388913.3	-	5	1952	c.1827C>T	c.(1825-1827)taC>taT	p.Y609Y		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	609					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGTCGTCTTCGTAAGCCTCCG	0.731													G|||	4123	0.823283	0.41	0.9366	5008	,	,		8779	0.999		0.9851	False		,,,				2504	0.954				p.Y609Y		Atlas-SNP	.											.	FAM83H	68	.	0			c.C1827T						PASS	.	G		1894,1194		548,798,198	5	6	6		1827	-0.4	0.1	8	dbSNP_121	6	6953,177		3392,169,4	no	coding-synonymous	FAM83H	NM_198488.3		3940,967,202	AA,AG,GG		2.4825,38.6658,13.4175		609/1180	144809804	8847,1371	1544	3565	5109	SO:0001819	synonymous_variant	286077	exon5			GTCTTCGTAAGCC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1827C>T	8.37:g.144809804G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	9	9	1	NM_198488	A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	CCDS6410.2																																																																																			G|0.132;A|0.868	0.868	strong		0.731	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		A	144809804	G	A	144809804	2	1	15	1	0	0	0	0	0	0	0	1	5640	1140	40	1		1	FAM83H	8	144809804	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1184080	144809804	1554218	148	3768										
PLEC	5339	hgsc.bcm.edu	37	chr8	144996751	144996751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccagctcagcgatggcctccCgcaggcgctcggcatcatgg	13	16	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:144996751C>T	ENST00000322810.4	-	31	7926	c.7757G>A	c.(7756-7758)cGg>cAg	p.R2586Q	PLEC_ENST00000356346.3_Missense_Mutation_p.R2435Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2472Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2449Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2453Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2417Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2427Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2449Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2476Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2586	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGGCCTCCCGCAGGCGCTC	0.632																																					p.R2586Q		Atlas-SNP	.											PLEC_ENST00000436759,colon,carcinoma,-1,3	PLEC	1144	3	0			c.G7757A						scavenged	.						36	39	38					8																	144996751		2141	4249	6390	SO:0001583	missense	5339	exon31			GCCTCCCGCAGGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7757G>A	8.37:g.144996751C>T	ENSP00000323856:p.Arg2586Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450298	0.43531	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72942	-0.67;-0.67;-0.7;-0.7;-0.69;-0.67;-0.68;-0.67;-0.67	4.56	3.59	0.41128	.	0.235070	0.21623	U	0.071616	T	0.47838	0.1467	N	0.24115	0.695	0.34146	D	0.666958	P;P;P;P;P;P;P;P	0.48230	0.907;0.846;0.846;0.85;0.846;0.846;0.907;0.907	B;B;B;B;B;B;B;B	0.37198	0.131;0.243;0.243;0.123;0.243;0.243;0.243;0.243	T	0.56715	-0.7933	10	0.25106	T	0.35	.	6.9463	0.24520	0.0:0.7403:0.0:0.2597	.	2476;2435;2427;2586;2417;2449;2453;2449	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2449;2453;2449;2417;2586;2427;2435;2476;2472	ENSP00000344848:R2449Q;ENSP00000350277:R2453Q;ENSP00000346602:R2449Q;ENSP00000381756:R2417Q;ENSP00000323856:R2586Q;ENSP00000347044:R2427Q;ENSP00000348702:R2435Q;ENSP00000388180:R2476Q;ENSP00000434583:R2472Q	ENSP00000323856:R2586Q	R	-	2	0	PLEC	145068739	0.004000	0.15560	1.000000	0.80357	0.862000	0.49288	0.435000	0.21510	2.379000	0.81126	0.549000	0.68633	CGG	.	.	none		0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144996751	C	T	144996751	3	4	15	1	0	0	0	0	1	0	0	0	12052	652	23	1	6305	1	PLEC	8	144996751	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	186947	144996751	1367271	149	3769										
CPSF1	29894	hgsc.bcm.edu	37	chr8	145623970	145623970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgtgtctgcggccgtcgtcgTctgcttcaggggtggtgctg	17	11	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr8:145623970T>C	ENST00000349769.3	-	18	1791	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	566					gene expression (GO:0010467)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTCGTCGTCTGCTTCAGG	0.667																																					p.D566G	NSCLC(133;1088 1848 27708 34777 35269)	Atlas-SNP	.											CPSF1,NS,carcinoma,+1,1	CPSF1	92	1	0			c.A1697G						scavenged	.						103	102	102					8																	145623970		2203	4300	6503	SO:0001583	missense	29894	exon18			TCGTCGTCTGCTT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1697A>G	8.37:g.145623970T>C	ENSP00000339353:p.Asp566Gly	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	209	3	0.0143541	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403626	0.62288	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	5.84	5.84	0.93424	.	0.159462	0.53938	D	0.000047	T	0.34279	0.0892	L	0.31926	0.97	0.42819	D	0.99398	B	0.13594	0.008	B	0.20184	0.028	T	0.10428	-1.0630	10	0.30078	T	0.28	-6.9099	14.146	0.65351	0.0:0.0:0.0:1.0	.	566	Q10570	CPSF1_HUMAN	G	566	ENSP00000339353:D566G	ENSP00000339353:D566G	D	-	2	0	CPSF1	145594778	1.000000	0.71417	0.099000	0.21106	0.012000	0.07955	6.975000	0.76128	2.227000	0.72691	0.533000	0.62120	GAC	.	.	none		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		C	145623970	T	C	145623970	3	2	15	1	0	0	0	0	1	0	0	0	3824	1667	58	2	2718	2	CPSF1	8	145623970	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	627219	145623970	740052	150	3770										
KANK1	23189	hgsc.bcm.edu	37	chr9	731215	731215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaagaagaaagatggtaacaAagattcaaatggcgcaaaaa	10	4	1	4			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:731215A>G	ENST00000382303.1	+	9	3606	c.2954A>G	c.(2953-2955)aAa>aGa	p.K985R	KANK1_ENST00000382293.3_Missense_Mutation_p.K827R|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.K985R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	985	Nuclear localization signal 2 (NLS 2).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGGTAACAAAGATTCAAAT	0.378																																					p.K985R		Atlas-SNP	.											.	KANK1	231	.	0			c.A2954G						PASS	.						142	127	132					9																	731215		2203	4300	6503	SO:0001583	missense	23189	exon9			GTAACAAAGATTC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2954A>G	9.37:g.731215A>G	ENSP00000371740:p.Lys985Arg	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	153	69	0.45098	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804544	0.31869	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.17528	2.27;2.27;2.27	5.76	-2.74	0.05932	.	0.345964	0.24791	N	0.035577	T	0.12433	0.0302	L	0.57536	1.79	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.29731	-1.0002	10	0.21540	T	0.41	.	6.4346	0.21817	0.5965:0.0:0.2984:0.1051	.	985	Q14678	KANK1_HUMAN	R	985;8;985;827	ENSP00000371740:K985R;ENSP00000371734:K985R;ENSP00000371730:K827R	ENSP00000371730:K827R	K	+	2	0	KANK1	721215	0.072000	0.21174	0.004000	0.12327	0.888000	0.51559	1.007000	0.29860	-0.570000	0.06022	0.528000	0.53228	AAA	.	.	none		0.378	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		G	731215	A	G	731215	3	3	15	1	0	0	0	0	1	0	0	0	7976	14	1	2	2968	2	KANK1	9	731215	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10		731215	140482216	151	3771										
UHRF2	115426	hgsc.bcm.edu	37	chr9	6413558	6413558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgaggacgtgtctcgcaaagCcacgattgaggagctgcgcg	15	10	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:6413558C>G	ENST00000276893.5	+	1	236	c.68C>G	c.(67-69)gCc>gGc	p.A23G	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.A23G	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	23	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TCTCGCAAAGCCACGATTGAG	0.632																																					p.A23G		Atlas-SNP	.											.	UHRF2	50	.	0			c.C68G						PASS	.						52	52	52					9																	6413558		2203	4300	6503	SO:0001583	missense	115426	exon1			GCAAAGCCACGAT	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.68C>G	9.37:g.6413558C>G	ENSP00000276893:p.Ala23Gly	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	108	28	0.259259	NM_152896	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045016	0.75846	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.73575	-0.76;-0.76	4.83	3.0	0.34707	Ubiquitin supergroup (1);Ubiquitin (2);	0.198751	0.42964	D	0.000626	T	0.67683	0.2919	L	0.31476	0.935	0.36395	D	0.86274	B	0.32893	0.389	B	0.41894	0.369	T	0.72520	-0.4268	10	0.87932	D	0	-7.1406	10.6553	0.45671	0.0:0.8436:0.0:0.1564	.	23	Q96PU4	UHRF2_HUMAN	G	23	ENSP00000276893:A23G;ENSP00000370778:A23G	ENSP00000276893:A23G	A	+	2	0	UHRF2	6403558	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.968000	0.76086	0.645000	0.30675	-0.258000	0.10820	GCC	.	.	none		0.632	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		G	6413558	C	G	6413558	3	3	15	1	0	0	0	0	1	0	0	0	16967	739	26	4	70	4	UHRF2	9	6413558	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	5682343	6413558	134799873	152	3772										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13138056	13138056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcatcctggatcggtctttgTtcccagcaagacttaggccc	9	13	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:13138056T>C	ENST00000319217.7	-	29	4347	c.4100A>G	c.(4099-4101)aAc>aGc	p.N1367S	MPDZ_ENST00000546205.1_Missense_Mutation_p.N1381S|MPDZ_ENST00000381015.4_Missense_Mutation_p.N1367S|MPDZ_ENST00000447879.1_Missense_Mutation_p.N1334S|MPDZ_ENST00000536827.1_Missense_Mutation_p.N1334S|MPDZ_ENST00000538841.1_Missense_Mutation_p.N226S|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000381022.2_Missense_Mutation_p.N1367S|MPDZ_ENST00000541718.1_Missense_Mutation_p.N1367S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1367	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCGGTCTTTGTTCCCAGCAAG	0.458																																					p.N1367S		Atlas-SNP	.											MPDZ_ENST00000541718,colon,carcinoma,0,2	MPDZ	324	2	0			c.A4100G						scavenged	.						94	88	90					9																	13138056		1891	4136	6027	SO:0001583	missense	8777	exon29			TCTTTGTTCCCAG	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4100A>G	9.37:g.13138056T>C	ENSP00000320006:p.Asn1367Ser	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	195	4	0.0205128	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	29.2	4.986398	0.93044	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000093	T	0.62925	0.2468	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.986;0.995;1.0;0.998;1.0	D;D;D;D;D;D	0.91635	0.999;0.974;0.983;0.998;0.998;0.998	T	0.65360	-0.6187	10	0.66056	D	0.02	.	15.999	0.80275	0.0:0.0:0.0:1.0	.	1334;226;72;1334;1247;1367	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	S	1367;1367;1367;303;226;1334;1334;1367;1247;1381;189	ENSP00000320006:N1367S;ENSP00000439807:N1367S;ENSP00000370410:N1367S;ENSP00000444230:N303S;ENSP00000444717:N226S;ENSP00000444151:N1334S;ENSP00000415208:N1334S;ENSP00000370403:N1367S;ENSP00000446358:N1381S;ENSP00000389705:N189S	ENSP00000320006:N1367S	N	-	2	0	MPDZ	13128056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.008000	0.88588	2.176000	0.68965	0.528000	0.53228	AAC	.	.	none		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13138056	T	C	13138056	3	2	15	1	0	0	0	0	1	0	0	0	9722	1725	60	2	2097	2	MPDZ	9	13138056	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	6724498	13138056	128075375	153	3773										
BAG1	573	hgsc.bcm.edu	37	chr9	33256814	33256814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttaccagtgtgtcaatctcCtccaagatcttcataaactg	5	12	4	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:33256814C>T	ENST00000379704.2	-	5	958	c.525G>A	c.(523-525)gaG>gaA	p.E175E	BAG1_ENST00000472232.3_Silent_p.E290E|BAG1_ENST00000467389.2_5'UTR			Q99933	BAG1_HUMAN	BCL2-associated athanogene	290	Interaction with HSPA8.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGTCAATCTCCTCCAAGATCT	0.398																																					p.E290E	GBM(77;1066 1502 5858 12192)	Atlas-SNP	.											BAG1,NS,carcinoma,-2,1	BAG1	24	1	0			c.G870A						scavenged	.						162	143	150					9																	33256814		2203	4300	6503	SO:0001819	synonymous_variant	573	exon5			AATCTCCTCCAAG	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.525G>A	9.37:g.33256814C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	98	3	0.0306122	NM_004323	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Silent	SNP	ENST00000379704.2	37	CCDS55301.1																																																																																			.	.	none		0.398	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		T	33256814	C	T	33256814	2	4	15	1	0	0	0	0	0	0	0	1	1286	680	24	2		2	BAG1	9	33256814	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	20118758	33256814	107956617	154	3774										
HRCT1	646962	hgsc.bcm.edu	37	chr9	35906583	35906583	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccgccacacccctcaccaccTccaccaccaccaccaccccc	1	29	1	0	rs112821450|rs143611048|rs79156963	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:35906583T>A	ENST00000354323.2	+	1	395	c.299T>A	c.(298-300)cTc>cAc	p.L100H	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccac	0.667																																					p.L100H		Atlas-SNP	.											HRCT1,NS,malignant_melanoma,0,1	HRCT1	14	1	1	Substitution - Missense(1)	NS(1)	c.T299A						scavenged	.						13	10	11					9																	35906583		1961	3863	5824	SO:0001583	missense	646962	exon1			ACCACCTCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.299T>A	9.37:g.35906583T>A	ENSP00000346283:p.Leu100His	Somatic	25	1	0.04		WXS	Illumina HiSeq	Phase_I	31	3	0.0967742	NM_001039792	B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197686	0.22037	.	.	ENSG00000196196	ENST00000354323	.	.	.	3.43	-0.386	0.12466	.	.	.	.	.	T	0.09730	0.0239	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25117	-1.0141	8	0.87932	D	0	-5.7925	0.5802	0.00711	0.4571:0.1878:0.1238:0.2312	.	100	Q6UXD1	HRCT1_HUMAN	H	100	.	ENSP00000346283:L100H	L	+	2	0	HRCT1	35896583	0.000000	0.05858	0.107000	0.21349	0.466000	0.32739	-0.309000	0.08145	-0.078000	0.12730	-0.376000	0.06991	CTC	T|0.500;A|0.500	0.500	weak		0.667	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		A	35906583	T	A	35906583	3	1	15	1	0	0	0	0	1	0	0	0	7353	1551	54	5	301	5	HRCT1	9	35906583	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2649769	35906583	105306848	155	3775										
PGM5	5239	hgsc.bcm.edu	37	chr9	71114185	71114185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgcatcacggctcatcttcCggctcagttcctccagtggt	9	14	4	0	rs142494212		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:71114185C>T	ENST00000396396.1	+	10	1751	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	508					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GCTCATCTTCCGGCTCAGTTC	0.532																																					p.R508W		Atlas-SNP	.											PGM5,NS,carcinoma,-1,1	PGM5	80	1	0			c.C1522T						scavenged	.	C	TRP/ARG	0,4406		0,0,2203	163	142	149		1522	3.8	1	9	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGM5	NM_021965.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	508/568	71114185	1,13005	2203	4300	6503	SO:0001583	missense	5239	exon10			ATCTTCCGGCTCA	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1522C>T	9.37:g.71114185C>T	ENSP00000379678:p.Arg508Trp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	97	3	0.0309278	NM_021965	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448973	0.84101	0.0	1.16E-4	ENSG00000154330	ENST00000396396	D	0.86956	-2.19	5.83	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96029	0.9015	10	0.87932	D	0	.	13.0458	0.58925	0.3732:0.6268:0.0:0.0	.	508	Q15124	PGM5_HUMAN	W	508	ENSP00000379678:R508W	ENSP00000379678:R508W	R	+	1	2	PGM5	70304005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.627000	0.37050	1.455000	0.47813	0.655000	0.94253	CGG	C|1.000;T|0.000	0.000	weak		0.532	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		T	71114185	C	T	71114185	3	4	15	1	0	0	0	0	1	0	0	0	11801	643	23	1	1560	1	PGM5	9	71114185	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	35207602	71114185	70099246	156	3776										
KIF27	55582	hgsc.bcm.edu	37	chr9	86457175	86457175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgatggtgctagttgccgcCgaattgcttcccctaccagt	10	13	0	1	rs146464985		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:86457175C>T	ENST00000297814.2	-	17	3841	c.3698G>A	c.(3697-3699)cGg>cAg	p.R1233Q	KIF27_ENST00000413982.1_Missense_Mutation_p.R1167Q|KIF27_ENST00000334204.2_Missense_Mutation_p.R1136Q|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1233					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAGTTGCCGCCGAATTGCTTC	0.408																																					p.R1233Q		Atlas-SNP	.											KIF27,rectum,carcinoma,-1,1	KIF27	103	1	0			c.G3698A						scavenged	.	C	GLN/ARG	0,4406		0,0,2203	75	67	70		3698	2.2	0	9	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIF27	NM_017576.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1233/1402	86457175	2,13004	2203	4300	6503	SO:0001583	missense	55582	exon17			TGCCGCCGAATTG	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3698G>A	9.37:g.86457175C>T	ENSP00000297814:p.Arg1233Gln	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	220	5	0.0227273	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511456	0.44660	0.0	2.33E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.69175	-0.38;-0.38;-0.25	4.24	2.22	0.28083	.	0.703319	0.12462	N	0.466797	T	0.43433	0.1247	N	0.16903	0.455	0.09310	N	1	B;B;B	0.16396	0.017;0.014;0.008	B;B;B	0.10450	0.005;0.001;0.001	T	0.24083	-1.0170	10	0.12766	T	0.61	.	5.5637	0.17158	0.0:0.4253:0.0:0.5747	.	1136;1167;1233	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	1233;1167;1136	ENSP00000297814:R1233Q;ENSP00000401688:R1167Q;ENSP00000333928:R1136Q	ENSP00000297814:R1233Q	R	-	2	0	KIF27	85646995	0.017000	0.18338	0.030000	0.17652	0.834000	0.47266	1.187000	0.32090	0.310000	0.22990	0.465000	0.42564	CGG	C|1.000;T|0.000	0.000	weak		0.408	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		T	86457175	C	T	86457175	3	4	15	1	0	0	0	0	1	0	0	0	8296	652	23	1	515	1	KIF27	9	86457175	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	15342990	86457175	54756256	157	3777										
PTCH1	5727	hgsc.bcm.edu	37	chr9	98241360	98241360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttgatgtgtgagacatactcGtaccccttgaagtgctcgta	10	9	0	3	rs587780690		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:98241360G>A	ENST00000331920.6	-	8	1436	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	PTCH1_ENST00000421141.1_Silent_p.Y228Y|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000437951.1_Silent_p.Y313Y|PTCH1_ENST00000375274.2_Silent_p.Y378Y|PTCH1_ENST00000430669.2_Silent_p.Y313Y|PTCH1_ENST00000418258.1_Silent_p.Y228Y|PTCH1_ENST00000429896.2_Silent_p.Y228Y	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	379					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Y379Y(3)|p.Y378Y(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGACATACTCGTACCCCTTGA	0.542																																					p.Y379Y		Atlas-SNP	.											PTCH1_ENST00000430669,colon,carcinoma,-1,8	PTCH1	1850	8	4	Substitution - coding silent(4)	breast(3)|oesophagus(1)	c.C1137T						scavenged	.						208	152	171					9																	98241360		2203	4300	6503	SO:0001819	synonymous_variant	5727	exon8			ATACTCGTACCCC	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1137C>T	9.37:g.98241360G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	153	4	0.0261438	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																			.	.	none		0.542	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		A	98241360	G	A	98241360	2	1	15	1	0	0	0	0	0	0	0	1	12730	1140	40	1		1	PTCH1	9	98241360	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	11784185	98241360	42972071	158	3778										
FAM22G	441457	hgsc.bcm.edu	37	chr9	99701229	99701231	+	In_Frame_Del	DEL	CTT	CTT	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagaggcctcagcccatcacCttctcctgccagcaagtcca					rs201499337|rs372223045		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:99701229_99701231delCTT	ENST00000372322.3	+	7	2045_2047	c.2024_2026delCTT	c.(2023-2028)ccttct>cct	p.S676del	NUTM2G_ENST00000354649.3_Intron|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	676																	AGCCCATCACCTTCTCCTGCCAG	0.611																																					p.675_675del		Pindel	.											.	FAM22G	66	.	0			c.2023_2025del						PASS	.		,	59,2459		28,3,1228					,	-2	0			46	135,6387		64,7,3190	no	coding,intron	FAM22G	NM_001170741.1,NM_001045477.2	,	92,10,4418	A1A1,A1R,RR		2.0699,2.3431,2.146	,	,		194,8846				SO:0001651	inframe_deletion	441457	exon7			.		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.2024_2026delCTT	9.37:g.99701229_99701231delCTT	ENSP00000361397:p.Ser676del	Somatic	198	.	.		WXS	Illumina HiSeq	Phase_I	219	36	0.164	NM_001170741	A6NNI5|Q5VZR3	In_Frame_Del	DEL	ENST00000372322.3	37	CCDS55329.1																																																																																			.	.	weak		0.611	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		-	99701231	CTT	-	99701229	7	5	15	1	0	1	0	1	0	0	0	0	5546	681	24	0	2050	0	FAM22G	9	99701229	In_Frame_Del	DEL	CTT	TCGA-FF-8061-01A-11D-2210-10	1459869	99701229	41512202	159	3779										
NR4A3	8013	hgsc.bcm.edu	37	chr9	102590616	102590624	+	In_Frame_Del	DEL	CACCACCAC	CACCACCAC	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgcccagctaccatcaccatCaccaccaccaccaccaccac					rs148637005	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	CACCACCAC	CACCACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:102590616_102590624delCACCACCAC	ENST00000395097.2	+	3	1021_1029	c.292_300delCACCACCAC	c.(292-300)caccaccacdel	p.HHH104del	NR4A3_ENST00000338488.4_In_Frame_Del_p.HHH104del|NR4A3_ENST00000330847.1_In_Frame_Del_p.HHH115del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	104	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccaccaccacc	0.612			T	EWSR1	extraskeletal myxoid chondrosarcoma																																p.108_111del		Pindel	.		Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	.	NR4A3	80	.	0			c.324_332del						PASS	.																																			SO:0001651	inframe_deletion	8013	exon4			.	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_300delCACCACCAC	9.37:g.102590625_102590633delCACCACCAC	ENSP00000378531:p.His104_His106del	Somatic	34	.	.		WXS	Illumina HiSeq	Phase_I	40	10	0.25	NM_173200	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	CCDS6743.1																																																																																			.	.	none		0.612	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			-	102590624	CACCACCAC	-	102590616	7	5	15	1	0	1	0	1	0	0	0	0	10634	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CACCACCAC	TCGA-FF-8061-01A-11D-2210-10	2889387	102590616	38622815	160	3780										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104448968	104448968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gagcaagttctggttggatcAtggtggctgtggctacagct	15	7	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:104448968A>G	ENST00000361820.3	-	2	1814	c.1214T>C	c.(1213-1215)aTg>aCg	p.M405T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGGTTGGATCATGGTGGCTGT	0.463																																					p.M405T		Atlas-SNP	.											GRIN3A,NS,malignant_melanoma,+1,1	GRIN3A	186	1	0			c.T1214C						scavenged	.						139	109	119					9																	104448968		2203	4300	6503	SO:0001583	missense	116443	exon2			TGGATCATGGTGG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1214T>C	9.37:g.104448968A>G	ENSP00000355155:p.Met405Thr	Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	159	3	0.0188679	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	9.158	1.018037	0.19355	.	.	ENSG00000198785	ENST00000361820	D	0.85339	-1.97	5.83	5.83	0.93111	.	0.105466	0.64402	D	0.000003	T	0.78110	0.4232	L	0.27053	0.805	0.48135	D	0.999593	B	0.02656	0.0	B	0.06405	0.002	T	0.72087	-0.4396	10	0.32370	T	0.25	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	405	Q8TCU5	NMD3A_HUMAN	T	405	ENSP00000355155:M405T	ENSP00000355155:M405T	M	-	2	0	GRIN3A	103488789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.394000	0.44450	2.231000	0.72958	0.460000	0.39030	ATG	.	.	none		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104448968	A	G	104448968	3	3	15	1	0	0	0	0	1	0	0	0	6783	217	8	2	2165	2	GRIN3A	9	104448968	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	1858352	104448968	36764463	161	3781										
C5	727	hgsc.bcm.edu	37	chr9	123719614	123719614	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtacttgacaaaaacattttCtacagtgatggatgtgatgc	9	6	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:123719614C>T	ENST00000223642.1	-	39	4740	c.4711G>A	c.(4711-4713)Gaa>Aaa	p.E1571K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1571	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AAAACATTTTCTACAGTGATG	0.348																																					p.E1571K		Atlas-SNP	.											.	C5	124	.	0			c.G4711A						PASS	.						197	191	193					9																	123719614		2203	4300	6503	SO:0001583	missense	727	exon39			CATTTTCTACAGT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4711G>A	9.37:g.123719614C>T	ENSP00000223642:p.Glu1571Lys	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	83	5	0.060241	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357662	0.61293	.	.	ENSG00000106804	ENST00000223642	T	0.22336	1.96	5.86	4.96	0.65561	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.150336	0.64402	D	0.000016	T	0.29061	0.0722	L	0.43923	1.385	0.38310	D	0.943213	D	0.61080	0.989	P	0.57620	0.824	T	0.09596	-1.0667	10	0.21014	T	0.42	.	10.9448	0.47294	0.0:0.9142:0.0:0.0858	.	1571	P01031	CO5_HUMAN	K	1571	ENSP00000223642:E1571K	ENSP00000223642:E1571K	E	-	1	0	C5	122759435	1.000000	0.71417	0.920000	0.36463	0.417000	0.31264	4.611000	0.61162	1.486000	0.48398	0.655000	0.94253	GAA	.	.	none		0.348	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123719614	C	T	123719614	3	4	15	1	0	0	0	0	1	0	0	0	2280	922	32	2	331	2	C5	9	123719614	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	19270646	123719614	17493817	162	3782										
OR5C1	392391	hgsc.bcm.edu	37	chr9	125551542	125551542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agatgtttgtctttgcaggtCtggctgatactgagtgttgc	13	6	2	3	rs201755571		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:125551542C>T	ENST00000373680.2	+	1	393	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTTTGCAGGTCTGGCTGATAC	0.567																																					p.L111L		Atlas-SNP	.											.	OR5C1	45	.	0			c.C331T						PASS	.						136	121	126					9																	125551542		2203	4300	6503	SO:0001819	synonymous_variant	392391	exon1			GCAGGTCTGGCTG	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.331C>T	9.37:g.125551542C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_001001923	B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	CCDS35131.1																																																																																			C|1.000;A|0.000	.	alt		0.567	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			T	125551542	C	T	125551542	2	4	15	1	0	0	0	0	0	0	0	1	11153	912	32	2		2	OR5C1	9	125551542	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1831928	125551542	15661889	163	3783										
PBX3	5090	hgsc.bcm.edu	37	chr9	128692039	128692039	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaatggtgggcatcatccatCgaaaatttagttccattcag	9	8	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr9:128692039C>T	ENST00000373489.5	+	4	638	c.622C>T	c.(622-624)Cga>Tga	p.R208*	PBX3_ENST00000342287.5_Nonsense_Mutation_p.R208*|PBX3_ENST00000447726.2_Nonsense_Mutation_p.R133*|PBX3_ENST00000373483.2_Nonsense_Mutation_p.R27*|PBX3_ENST00000373487.4_Nonsense_Mutation_p.R208*|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	208					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R208*(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CATCATCCATCGAAAATTTAG	0.393																																					p.R208X		Atlas-SNP	.											PBX3,colon,carcinoma,0,1	PBX3	45	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C622T						scavenged	.						156	146	149					9																	128692039		2203	4300	6503	SO:0001587	stop_gained	5090	exon4			ATCCATCGAAAAT		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.622C>T	9.37:g.128692039C>T	ENSP00000362588:p.Arg208*	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_006195	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Nonsense_Mutation	SNP	ENST00000373489.5	37	CCDS6865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.162828|4.162828	0.78226|0.78226	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998|ENST00000428092	.|.	.|.	.|.	5.69|5.69	3.76|3.76	0.43208|0.43208	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63977	.|0.2557	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71527	.|-0.4566	.|3	0.02654|.	T|.	1|.	.|.	13.9564|13.9564	0.64152|0.64152	0.3936:0.6064:0.0:0.0|0.3936:0.6064:0.0:0.0	.|.	.|.	.|.	.|.	X|L	27;208;208;208;27;27;133;119|128	.|.	ENSP00000341990:R208X|.	R|S	+|+	1|2	2|0	PBX3|PBX3	127731860|127731860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.963000|2.963000	0.49184|0.49184	1.392000|1.392000	0.46585|0.46585	0.555000|0.555000	0.69702|0.69702	CGA|TCG	.	.	none		0.393	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			T	128692039	C	T	128692039	4	4	15	1	0	0	0	0	0	1	0	0	11494	876	31	1	636	1	PBX3	9	128692039	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3140497	128692039	12521392	164	3784										
FAM171A1	221061	hgsc.bcm.edu	37	chr10	15255321	15255321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagagacaaagcatctccccTtcccttccgggctgattttg	8	14	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:15255321T>C	ENST00000378116.4	-	8	2272	c.2266A>G	c.(2266-2268)Agg>Ggg	p.R756G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	756						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCATCTCCCCTTCCCTTCCGG	0.532																																					p.R756G		Atlas-SNP	.											FAM171A1_ENST00000378116,colon,carcinoma,+1,2	FAM171A1	252	2	0			c.A2266G						scavenged	.						121	84	97					10																	15255321		2203	4300	6503	SO:0001583	missense	221061	exon8			CTCCCCTTCCCTT	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2266A>G	10.37:g.15255321T>C	ENSP00000367356:p.Arg756Gly	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	171	3	0.0175439	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174889	0.38413	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.35789	1.29	5.25	2.74	0.32292	.	0.049878	0.85682	D	0.000000	T	0.54013	0.1832	M	0.63428	1.95	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.55673	-0.8104	10	0.54805	T	0.06	-26.3492	12.0944	0.53747	0.0:0.0:0.2711:0.7289	.	756	Q5VUB5	F1711_HUMAN	G	756;755	ENSP00000367356:R756G	ENSP00000367356:R756G	R	-	1	2	FAM171A1	15295327	0.859000	0.29813	1.000000	0.80357	0.356000	0.29392	1.191000	0.32138	0.980000	0.38523	0.460000	0.39030	AGG	.	.	none		0.532	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		C	15255321	T	C	15255321	3	2	15	1	0	0	0	0	1	0	0	0	5490	1608	56	3	410	3	FAM171A1	10	15255321	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10		15255321	120279426	165	3785										
ZNF488	118738	hgsc.bcm.edu	37	chr10	48371094	48371094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcaggggaatctgcagatGccctgggggagctgtctgga	17	9	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:48371094G>A	ENST00000395702.2	+	2	789	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.A81T			Q96MN9	ZN488_HUMAN	zinc finger protein 488	188					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ATCTGCAGATGCCCTGGGGGA	0.537																																					p.A188T		Atlas-SNP	.											ZNF488,middle_lobe,carcinoma,-2,1	ZNF488	38	1	0			c.G562A						scavenged	.						91	88	89					10																	48371094		2203	4300	6503	SO:0001583	missense	118738	exon2			GCAGATGCCCTGG	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.562G>A	10.37:g.48371094G>A	ENSP00000379054:p.Ala188Thr	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	75	2	0.0266667	NM_153034	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.366095	0.24684	.	.	ENSG00000165388	ENST00000395702	T	0.22945	1.93	5.55	-7.46	0.01369	.	0.871380	0.10121	N	0.713347	T	0.12263	0.0298	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	10	0.17369	T	0.5	.	6.2216	0.20685	0.428:0.0:0.3022:0.2699	.	188	Q96MN9	ZN488_HUMAN	T	188	ENSP00000379054:A188T	ENSP00000379054:A188T	A	+	1	0	ZNF488	47991100	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.440000	0.06888	-1.875000	0.01132	-1.267000	0.01435	GCC	.	.	none		0.537	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		A	48371094	G	A	48371094	3	1	15	1	0	0	0	0	1	0	0	0	17937	1319	46	2	564	2	ZNF488	10	48371094	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	33115773	48371094	87163653	166	3786										
ADO	84890	hgsc.bcm.edu	37	chr10	64565347	64565347	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcgttcgcgggccgagtaCaccgaggccagcggcccctg	15	16	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:64565347C>G	ENST00000373783.1	+	1	832	c.528C>G	c.(526-528)taC>taG	p.Y176*	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	176						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGCCGAGTACACCGAGGCCA	0.741																																					p.Y176X		Atlas-SNP	.											.	ADO	10	.	0			c.C528G						PASS	.						16	15	15					10																	64565347		2184	4278	6462	SO:0001587	stop_gained	84890	exon1			CGAGTACACCGAG	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.528C>G	10.37:g.64565347C>G	ENSP00000362888:p.Tyr176*	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	22	4	0.181818	NM_032804	B1AL29	Nonsense_Mutation	SNP	ENST00000373783.1	37	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	C	40	7.980773	0.98594	.	.	ENSG00000181915	ENST00000373783	.	.	.	4.93	4.0	0.46444	.	0.396168	0.26293	N	0.025215	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.37	12.6806	0.56920	0.0:0.6815:0.3185:0.0	.	.	.	.	X	176	.	ENSP00000362888:Y176X	Y	+	3	2	ADO	64235353	1.000000	0.71417	0.929000	0.37066	0.937000	0.57800	2.542000	0.45744	1.002000	0.39104	0.655000	0.94253	TAC	.	.	none		0.741	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		G	64565347	C	G	64565347	4	3	15	1	0	0	0	0	0	1	0	0	325	489	17	4	530	4	ADO	10	64565347	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	16194253	64565347	70969400	167	3787										
SIRT1	23411	hgsc.bcm.edu	37	chr10	69672431	69672431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aacctccacgaacacaaaaaGaattggcttatttgtcagag	7	9	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:69672431G>T	ENST00000212015.6	+	8	1611	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SIRT1_ENST00000403579.1_Nonsense_Mutation_p.E217*|SIRT1_ENST00000406900.1_Nonsense_Mutation_p.E217*|SIRT1_ENST00000432464.1_Nonsense_Mutation_p.E225*	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	520	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						AACACAAAAAGAATTGGCTTA	0.393																																					p.E520X		Atlas-SNP	.											SIRT1,NS,carcinoma,0,2	SIRT1	38	2	0			c.G1558T						scavenged	.						77	77	77					10																	69672431		2203	4300	6503	SO:0001587	stop_gained	23411	exon8			CAAAAAGAATTGG	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.1558G>T	10.37:g.69672431G>T	ENSP00000212015:p.Glu520*	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	96	3	0.03125	NM_012238	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	40	8.277704	0.98740	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	.	.	.	5.68	5.68	0.88126	.	0.420263	0.22708	N	0.056617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.3149	19.4062	0.94648	0.0:0.0:1.0:0.0	.	.	.	.	X	520;225;217;217	.	ENSP00000212015:E520X	E	+	1	0	SIRT1	69342437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.347000	0.73004	2.695000	0.91970	0.650000	0.86243	GAA	.	.	none		0.393	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			T	69672431	G	T	69672431	4	4	15	1	0	0	0	0	0	1	0	0	14337	943	33	4	1588	4	SIRT1	10	69672431	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	5107084	69672431	65862316	168	3788										
CCAR1	55749	hgsc.bcm.edu	37	chr10	70549639	70549639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acaatcagaaacttatctacGgtaatggatgaaatccacac	6	9	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:70549639G>A	ENST00000265872.6	+	24	3479	c.3360G>A	c.(3358-3360)acG>acA	p.T1120T	CCAR1_ENST00000535016.1_Silent_p.T1105T|CCAR1_ENST00000543719.1_Silent_p.T1105T	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1120					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACTTATCTACGGTAATGGATG	0.284																																					p.T1120T		Atlas-SNP	.											.	CCAR1	118	.	0			c.G3360A						PASS	.						45	48	47					10																	70549639		2201	4293	6494	SO:0001819	synonymous_variant	55749	exon24			ATCTACGGTAATG	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3360G>A	10.37:g.70549639G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	167	8	0.0479042	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																			.	.	none		0.284	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		A	70549639	G	A	70549639	2	1	15	1	0	0	0	0	0	0	0	1	2730	1103	39	1		1	CCAR1	10	70549639	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	877208	70549639	64985108	169	3789										
PPA1	5464	hgsc.bcm.edu	37	chr10	71969338	71969338	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tctttaaattctgcattaaaCgcaaactcattttctggttt	4	8	4	0	rs79719906	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:71969338C>A	ENST00000373232.3	-	7	714	c.615G>T	c.(613-615)gcG>gcT	p.A205A		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	205					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CTGCATTAAACGCAAACTCAT	0.358																																					p.A205A		Atlas-SNP	.											PPA1,NS,carcinoma,-1,2	PPA1	24	2	0			c.G615T						scavenged	.						113	110	111					10																	71969338		2203	4300	6503	SO:0001819	synonymous_variant	5464	exon7			ATTAAACGCAAAC	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"cytosolic inorganic pyrophosphatase", "inorganic pyrophosphatase 1", "pyrophosphate phospho-hydrolase"	179030	"pyrophosphatase (inorganic)"	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.615G>T	10.37:g.71969338C>A		Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	155	3	0.0193548	NM_021129	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Silent	SNP	ENST00000373232.3	37	CCDS7299.1																																																																																			C|0.987;A|0.013	0.013	strong		0.358	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		A	71969338	C	A	71969338	2	1	15	1	0	0	0	0	0	0	0	1	12286	523	19	4		4	PPA1	10	71969338	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1419699	71969338	63565409	170	3790										
HTR7	3363	hgsc.bcm.edu	37	chr10	92509323	92509323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cccattctgcctcacagggtAtgtgaggggccttgtgatcc	12	12	2	2	rs560218001		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:92509323A>G	ENST00000336152.3	-	2	594	c.568T>C	c.(568-570)Tac>Cac	p.Y190H	HTR7_ENST00000371721.3_Missense_Mutation_p.Y190H|HTR7_ENST00000277874.6_Missense_Mutation_p.Y190H|HTR7_ENST00000371719.2_Missense_Mutation_p.Y190H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	190					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTCACAGGGTATGTGAGGGGC	0.517																																					p.Y190H		Atlas-SNP	.											.	HTR7	122	.	0			c.T568C						PASS	.						104	106	106					10																	92509323		2203	4300	6503	SO:0001583	missense	3363	exon2			CAGGGTATGTGAG	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.568T>C	10.37:g.92509323A>G	ENSP00000337949:p.Tyr190His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_019860	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581537	0.65992	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68119	-0.5493	10	0.62326	D	0.03	.	15.6519	0.77104	1.0:0.0:0.0:0.0	.	190;190	P34969;P34969-2	5HT7R_HUMAN;.	H	190	ENSP00000337949:Y190H;ENSP00000277874:Y190H;ENSP00000360784:Y190H;ENSP00000360786:Y190H	ENSP00000277874:Y190H	Y	-	1	0	HTR7	92499303	1.000000	0.71417	0.969000	0.41365	0.409000	0.31022	9.139000	0.94554	2.285000	0.76669	0.528000	0.53228	TAC	.	.	none		0.517	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		G	92509323	A	G	92509323	3	3	15	1	0	0	0	0	1	0	0	0	7452	449	16	2	887	2	HTR7	10	92509323	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	20539985	92509323	43025424	171	3791										
MYOF	26509	hgsc.bcm.edu	37	chr10	95089487	95089487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggaatcggttttccagatcaAtaattgtttctcctactttt	6	8	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:95089487A>G	ENST00000359263.4	-	44	4915	c.4916T>C	c.(4915-4917)aTt>aCt	p.I1639T	MYOF_ENST00000358334.5_Missense_Mutation_p.I1626T|MYOF_ENST00000371501.4_Missense_Mutation_p.I1639T|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.I1658T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1639					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCCAGATCAATAATTGTTTC	0.433																																					p.I1639T		Atlas-SNP	.											.	MYOF	177	.	0			c.T4916C						PASS	.						127	123	124					10																	95089487		1858	4102	5960	SO:0001583	missense	26509	exon44			AGATCAATAATTG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4916T>C	10.37:g.95089487A>G	ENSP00000352208:p.Ile1639Thr	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	143	63	0.440559	NM_013451	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166718	0.78339	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.3	5.3	0.74995	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.097327	0.64402	D	0.000002	T	0.74183	0.3683	M	0.92923	3.36	0.80722	D	1	D;P	0.57571	0.98;0.954	D;P	0.63957	0.92;0.701	T	0.81597	-0.0860	10	0.87932	D	0	-7.8203	15.4031	0.74858	1.0:0.0:0.0:0.0	.	1626;1639	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	T	1626;1639;1639;1658	ENSP00000351094:I1626T;ENSP00000352208:I1639T;ENSP00000360556:I1639T;ENSP00000360557:I1658T	ENSP00000351094:I1626T	I	-	2	0	MYOF	95079477	1.000000	0.71417	0.794000	0.32065	0.854000	0.48673	8.723000	0.91458	2.232000	0.73038	0.454000	0.30748	ATT	.	.	none		0.433	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		G	95089487	A	G	95089487	3	3	15	1	0	0	0	0	1	0	0	0	10089	101	4	2	1313	2	MYOF	10	95089487	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2580164	95089487	40445260	172	3792										
DOCK1	1793	hgsc.bcm.edu	37	chr10	128769016	128769016	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgaactttctttacagatcGgagacactgtgcacatctta	7	9	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:128769016G>T	ENST00000280333.6	+	2	206	c.97G>T	c.(97-99)Gga>Tga	p.G33*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	33	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTACAGATCGGAGACACTGT	0.393																																					p.G33X		Atlas-SNP	.											DOCK1,NS,carcinoma,-2,1	DOCK1	188	1	0			c.G97T						scavenged	.						147	132	137					10																	128769016		1934	4122	6056	SO:0001587	stop_gained	1793	exon2			CAGATCGGAGACA	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.97G>T	10.37:g.128769016G>T	ENSP00000280333:p.Gly33*	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	170	2	0.0117647	NM_001380	A9Z1Z5	Nonsense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	37	6.336575	0.97485	.	.	ENSG00000150760	ENST00000280333	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1717	0.86832	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000280333:G33X	G	+	1	0	DOCK1	128659006	1.000000	0.71417	0.960000	0.40013	0.955000	0.61496	7.457000	0.80775	2.319000	0.78375	0.563000	0.77884	GGA	.	.	none		0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	128769016	G	T	128769016	4	4	15	1	0	0	0	0	0	1	0	0	4684	1117	39	4	103	4	DOCK1	10	128769016	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	33679529	128769016	6765731	173	3793										
TUBGCP2	10844	hgsc.bcm.edu	37	chr10	135103445	135103445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctcctggatcctctccttccGcagctcgtgctcctcgacca	7	19	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr10:135103445G>A	ENST00000252936.3	-	8	1282	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R443W|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.R415W|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.R8W|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R285W			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	415					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTCCTTCCGCAGCTCGTGC	0.582																																					p.R443W		Atlas-SNP	.											TUBGCP2,caecum,carcinoma,+1,1	TUBGCP2	79	1	0			c.C1327T						scavenged	.						259	177	204					10																	135103445		2203	4300	6503	SO:0001583	missense	10844	exon10			CCTTCCGCAGCTC	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1243C>T	10.37:g.135103445G>A	ENSP00000252936:p.Arg415Trp	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	212	3	0.0141509	NM_001256617	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945137	0.73672	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32753	2.39;2.12;2.39;1.44;2.38	5.64	4.73	0.59995	.	0.053819	0.85682	D	0.000000	T	0.42653	0.1212	L	0.39245	1.2	0.45087	D	0.998109	D;D;D	0.71674	0.997;0.998;0.992	P;P;P	0.58970	0.764;0.849;0.849	T	0.39583	-0.9607	10	0.72032	D	0.01	-37.8972	15.0194	0.71617	0.0:0.0:0.8565:0.1435	.	443;443;415	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	W	415;285;415;8;443	ENSP00000252936:R415W;ENSP00000395666:R285W;ENSP00000357551:R415W;ENSP00000357550:R8W;ENSP00000446093:R443W	ENSP00000252936:R415W	R	-	1	2	TUBGCP2	134953435	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.601000	0.82783	1.512000	0.48834	-0.182000	0.12963	CGG	.	.	none		0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			A	135103445	G	A	135103445	3	1	15	1	0	0	0	0	1	0	0	0	16763	1086	38	1	1505	1	TUBGCP2	10	135103445	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	6334429	135103445	431302	174	3794										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017566	1017566	+	Silent	SNP	G	G	A													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtgaatgtagggatgtagaGgttttggccgtgctaaatga							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:1017566G>A	ENST00000421673.2	-	31	5285	c.5235C>T	c.(5233-5235)acC>acT	p.T1745T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1745	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGTAGAGGTTTTGGCCG	0.547																																					p.T1745T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-2,2	MUC6	408	2	0			c.C5235T						scavenged	.						769	740	750					11																	1017566		2199	4287	6486	SO:0001819	synonymous_variant	4588	exon31			TGTAGAGGTTTTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5235C>T	11.37:g.1017566G>A		Somatic	898	34	0.0378619		WXS	Illumina HiSeq	Phase_I	1017	41	0.0403147	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017566	G	A	1017566	2	1	15	1	0	0	0	0	0	0	0	1	9980	987	35	2		2	MUC6	11	1017566	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10		1017566	133988950	175	3795	63	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1017575	1017575	+	Silent	SNP	C	C	T													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agggatgtagaggttttggcCgtgctaaatgagcttcggga					rs76222533		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:1017575C>T	ENST00000421673.2	-	31	5276	c.5226G>A	c.(5224-5226)acG>acA	p.T1742T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTTTTGGCCGTGCTAAATG	0.537													-|||	1	0.000199681	0.0	0.0014	5008	,	,		39036	0.0		0.0	False		,,,				2504	0.0				p.T1742T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.G5226A						scavenged	.						697	677	684					11																	1017575		2190	4282	6472	SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5226G>A	11.37:g.1017575C>T		Somatic	854	72	0.0843091		WXS	Illumina HiSeq	Phase_I	985	100	0.101523	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	strong		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017575	C	T	1017575	2	4	15	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017575	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	9	1017575	133988941	176	3796	63	2								
MUC2	4583	hgsc.bcm.edu	37	chr11	1092890	1092890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caccaccaccaccacggtgaCcccaaccccaacacccaccg	4	24	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:1092890C>T	ENST00000441003.2	+	30	4736	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1571I|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	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)	ACCACGGTGaccccaacccca	0.637																																					p.T1570I		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,-1,2	MUC2	614	2	0			c.C4709T						scavenged	.						119	156	143					11																	1092890		1961	3652	5613	SO:0001583	missense	4583	exon30			CGGTGACCCCAAC	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.4709C>T	11.37:g.1092890C>T	ENSP00000415183:p.Thr1570Ile	Somatic	79	5	0.0632911		WXS	Illumina HiSeq	Phase_I	96	7	0.0729167	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536608	0.04082	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15487	2.42;3.24	1.3	-2.33	0.06724	.	0.589600	0.12692	U	0.447130	T	0.07548	0.0190	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.21546	0.035	T	0.24799	-1.0150	9	0.38643	T	0.18	.	4.395	0.11358	0.3284:0.4793:0.1923:0.0	.	1570	E7EUV1	.	I	1570;1571	ENSP00000415183:T1570I;ENSP00000351956:T1571I	ENSP00000351956:T1571I	T	+	2	0	MUC2	1082890	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.404000	0.20999	-0.107000	0.12088	0.064000	0.15345	ACC	.	.	none		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092890	C	T	1092890	3	4	15	1	0	0	0	0	1	0	0	0	9975	507	18	2	4827	2	MUC2	11	1092890	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	75315	1092890	133913626	177	3797										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093245	1093245	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	actacggtgaccccaaccccAacacccaccggcacacagac	6	20	0	2	rs200003195		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:1093245A>T	ENST00000441003.2	+	30	5091	c.5064A>T	c.(5062-5064)ccA>ccT	p.P1688P	MUC2_ENST00000359061.5_Silent_p.P1655P|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	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)	ccccaaccccaacacccaccg	0.632																																					p.P1688P		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.A5064T						scavenged	.						88	139	121					11																	1093245		1819	3301	5120	SO:0001819	synonymous_variant	4583	exon30			AACCCCAACACCC	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.5064A>T	11.37:g.1093245A>T		Somatic	44	3	0.0681818		WXS	Illumina HiSeq	Phase_I	45	6	0.133333	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.	.	weak		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093245	A	T	1093245	2	4	15	1	0	0	0	0	0	0	0	1	9975	117	5	5		5	MUC2	11	1093245	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	355	1093245	133913271	178	3798										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068207	5068207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gggcattagcatgtgcattgTaattcgtcccgttttactta	9	8	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:5068207T>C	ENST00000380370.1	+	1	452	c.452T>C	c.(451-453)gTa>gCa	p.V151A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V151A(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCATTGTAATTCGTCCC	0.473																																					p.V151A		Atlas-SNP	.											OR52J3,caecum,carcinoma,0,1	OR52J3	77	1	1	Substitution - Missense(1)	large_intestine(1)	c.T452C						scavenged	.						196	129	152					11																	5068207		2201	4298	6499	SO:0001583	missense	119679	exon1			GCATTGTAATTCG	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.452T>C	11.37:g.5068207T>C	ENSP00000369728:p.Val151Ala	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	221	4	0.0180995	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	4.283	0.051688	0.08291	.	.	ENSG00000205495	ENST00000380370	T	0.37411	1.2	4.19	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000713	T	0.33411	0.0862	L	0.53729	1.69	0.09310	N	1	B	0.10296	0.003	B	0.22880	0.042	T	0.32929	-0.9888	10	0.62326	D	0.03	.	9.8235	0.40896	0.0:0.0:0.1731:0.8269	.	151	Q8NH60	O52J3_HUMAN	A	151	ENSP00000369728:V151A	ENSP00000369728:V151A	V	+	2	0	OR52J3	5024783	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.496000	0.06436	0.626000	0.30322	0.533000	0.62120	GTA	.	.	none		0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		C	5068207	T	C	5068207	3	2	15	1	0	0	0	0	1	0	0	0	11122	1638	57	2	454	2	OR52J3	11	5068207	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	3974962	5068207	129938309	179	3799										
ZNF143	7702	hgsc.bcm.edu	37	chr11	9492960	9492960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgcttgacagaggcagtcacCgtggcaggtgagcagttgtg	16	8	1	3	rs563295110		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:9492960C>T	ENST00000396602.2	+	2	224	c.105C>T	c.(103-105)acC>acT	p.T35T	ZNF143_ENST00000299606.2_Silent_p.T35T|ZNF143_ENST00000396604.1_Silent_p.T35T|ZNF143_ENST00000530463.1_Silent_p.T35T|ZNF143_ENST00000396597.3_Silent_p.T35T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	35					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AGGCAGTCACCGTGGCAGGTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18802	0.001		0.0	False		,,,				2504	0.0				p.T35T		Atlas-SNP	.											ZNF143,NS,carcinoma,0,1	ZNF143	38	1	0			c.C105T						scavenged	.						131	104	113					11																	9492960		2201	4294	6495	SO:0001819	synonymous_variant	7702	exon2			AGTCACCGTGGCA	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.105C>T	11.37:g.9492960C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_003442	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	CCDS7799.2																																																																																			.	.	none		0.423	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		T	9492960	C	T	9492960	2	4	15	1	0	0	0	0	0	0	0	1	17729	639	23	1		1	ZNF143	11	9492960	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	4424753	9492960	125513556	180	3800										
SWAP70	23075	hgsc.bcm.edu	37	chr11	9685820	9685820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcaaggtctccaagtcccagCtcaaggtgggcgcctcctga	12	14	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:9685820C>T	ENST00000318950.6	+	1	197	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F	SWAP70_ENST00000447399.2_Missense_Mutation_p.L32F	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	32					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAAGTCCCAGCTCAAGGTGGG	0.692																																					p.L32F		Atlas-SNP	.											.	SWAP70	40	.	0			c.C94T						PASS	.						30	24	26					11																	9685820		2179	4272	6451	SO:0001583	missense	23075	exon1			TCCCAGCTCAAGG	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.94C>T	11.37:g.9685820C>T	ENSP00000315630:p.Leu32Phe	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	222	97	0.436937	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750499	0.89753	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	D;T	0.86865	-2.18;2.55	5.5	5.5	0.81552	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.81497	2.545	0.80722	D	1	D;P;D	0.76494	0.998;0.891;0.999	D;P;D	0.85130	0.996;0.49;0.997	D	0.94379	0.7603	10	0.87932	D	0	-6.5908	19.0354	0.92974	0.0:1.0:0.0:0.0	.	32;32;32	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	F	32	ENSP00000399056:L32F;ENSP00000315630:L32F	ENSP00000315630:L32F	L	+	1	0	SWAP70	9642396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.705000	0.54823	2.584000	0.87258	0.563000	0.77884	CTC	.	.	none		0.692	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		T	9685820	C	T	9685820	3	4	15	1	0	0	0	0	1	0	0	0	15422	797	28	2	96	2	SWAP70	11	9685820	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	192860	9685820	125320696	181	3801										
BTBD10	84280	hgsc.bcm.edu	37	chr11	13410601	13410601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttccttctcccaggacattCgaataaagggtctttggaca	8	11	2	0	rs75019394		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:13410601C>T	ENST00000278174.5	-	9	1450	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	BTBD10_ENST00000528120.1_Missense_Mutation_p.R354Q|BTBD10_ENST00000530907.1_Missense_Mutation_p.R410Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	402	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)		p.R402Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CCAGGACATTCGAATAAAGGG	0.428																																					p.R402Q		Atlas-SNP	.											BTBD10,NS,carcinoma,0,1	BTBD10	43	1	1	Substitution - Missense(1)	cervix(1)	c.G1205A						scavenged	.						117	116	117					11																	13410601		2200	4294	6494	SO:0001583	missense	84280	exon9			GACATTCGAATAA	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1205G>A	11.37:g.13410601C>T	ENSP00000278174:p.Arg402Gln	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	186	2	0.0107527	NM_032320	B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665486	0.47677	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.79247	-1.25;-1.25;-1.25	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	N	0.08118	0	0.80722	D	1	P;P;P	0.40794	0.729;0.729;0.729	B;B;B	0.28553	0.091;0.091;0.091	T	0.60120	-0.7325	10	0.22109	T	0.4	-22.28	18.0877	0.89463	0.0:1.0:0.0:0.0	.	410;402;402	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	Q	402;410;354	ENSP00000278174:R402Q;ENSP00000431186:R410Q;ENSP00000435257:R354Q	ENSP00000278174:R402Q	R	-	2	0	BTBD10	13367177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.895000	0.69814	2.664000	0.90586	0.555000	0.69702	CGA	.	.	weak		0.428	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		T	13410601	C	T	13410601	3	4	15	1	0	0	0	0	1	0	0	0	1538	884	31	1	226	1	BTBD10	11	13410601	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3724781	13410601	121595915	182	3802										
ALX4	60529	hgsc.bcm.edu	37	chr11	44331309	44331309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcggctgcggctgcggcgGcggctggggctgcggggtcg	23	12	0	0	rs12421995	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:44331309G>A	ENST00000329255.3	-	1	407	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	102			P -> S (in dbSNP:rs12421995). {ECO:0000269|PubMed:11137991}.		anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						ggctgcggcggcggctggggc	0.731													G|||	1863	0.372005	0.0287	0.3473	5008	,	,		9331	0.506		0.4364	False		,,,				2504	0.6493				p.P102S		Atlas-SNP	.											.	ALX4	58	.	0			c.C304T						PASS	.						2	2	2					11																	44331309		903	2415	3318	SO:0001583	missense	60529	exon1			GCGGCGGCGGCTG	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.304C>T	11.37:g.44331309G>A	ENSP00000332744:p.Pro102Ser	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	9	5	0.555556	NM_021926	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	CCDS31468.1	794	0.36355311355311354	31	0.06300813008130081	124	0.3425414364640884	286	0.5	353	0.4656992084432718	g	2.092	-0.408130	0.04832	.	.	ENSG00000052850	ENST00000329255	T	0.23552	1.9	4.17	2.11	0.27256	.	0.432725	0.21550	N	0.072754	T	0.00012	0.0000	L	0.54323	1.7	0.43708	P	0.003821999999999992	B	0.12630	0.006	B	0.06405	0.002	T	0.45498	-0.9257	9	0.08599	T	0.76	.	9.0455	0.36345	0.0:0.2181:0.6318:0.1501	rs12421995	102	Q9H161	ALX4_HUMAN	S	102	ENSP00000332744:P102S	ENSP00000332744:P102S	P	-	1	0	ALX4	44287885	.	.	0.370000	0.25965	0.012000	0.07955	.	.	0.243000	0.21327	-0.319000	0.08680	CCG	G|0.635;A|0.365	0.365	strong		0.731	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			A	44331309	G	A	44331309	3	1	15	1	0	0	0	0	1	0	0	0	558	1203	42	2	947	2	ALX4	11	44331309	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	30920708	44331309	90675207	183	3803										
PEX16	9409	hgsc.bcm.edu	37	chr11	45937288	45937288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gagggcgatgacaagccagcGgcccacttcaccccacacct	10	17	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:45937288G>A	ENST00000378750.5	-	4	568	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	PEX16_ENST00000532554.1_Intron|PEX16_ENST00000532681.1_Missense_Mutation_p.R14C|PEX16_ENST00000241041.3_Missense_Mutation_p.R109C			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	109					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		ACAAGCCAGCGGCCCACTTCA	0.622																																					p.R109C		Atlas-SNP	.											PEX16,colon,carcinoma,+1,1	PEX16	24	1	0			c.C325T						scavenged	.						162	160	161					11																	45937288		2203	4299	6502	SO:0001583	missense	9409	exon4			GCCAGCGGCCCAC	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.325C>T	11.37:g.45937288G>A	ENSP00000368024:p.Arg109Cys	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	193	3	0.015544	NM_004813	Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623051	0.87460	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000525192	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.29	5.29	0.74685	.	0.111909	0.64402	D	0.000013	T	0.57651	0.2068	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.979;0.982	T	0.63391	-0.6648	10	0.87932	D	0	-12.6453	13.499	0.61442	0.0:0.0:0.8437:0.1563	.	109;109	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	C	109;109;14;14	ENSP00000241041:R109C;ENSP00000368024:R109C;ENSP00000434654:R14C;ENSP00000431309:R14C	ENSP00000241041:R109C	R	-	1	0	PEX16	45893864	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.223000	0.78033	2.480000	0.83734	0.561000	0.74099	CGC	.	.	none		0.622	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		A	45937288	G	A	45937288	3	1	15	1	0	0	0	0	1	0	0	0	11743	1116	39	1	810	1	PEX16	11	45937288	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1605979	45937288	89069228	184	3804										
DGKZ	8525	hgsc.bcm.edu	37	chr11	46388920	46388920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccccgtgcagcgagtcagagCggcagatccggagtacagtg	15	12	1	2	rs375162900		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:46388920C>T	ENST00000454345.1	+	3	933	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	DGKZ_ENST00000421244.2_Missense_Mutation_p.R81W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R47W|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.R86W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R81W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R81W|DGKZ_ENST00000343674.6_Missense_Mutation_p.R98W|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.R81W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	270					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGAGTCAGAGCGGCAGATCCG	0.677																																					p.R270W		Atlas-SNP	.											DGKZ_ENST00000454345,right_upper_lobe,carcinoma,0,3	DGKZ	199	3	0			c.C808T						scavenged	.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4394		0,0,2197	32	34	33		808,241,241,241,241,292,256	-1	1	11		33	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense,missense,missense,missense	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,101,101,101,101,101,101	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/1118,81/935,81/929,81/907,81/930,98/946,86/934	46388920	1,12989	2197	4298	6495	SO:0001583	missense	8525	exon3			TCAGAGCGGCAGA	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.808C>T	11.37:g.46388920C>T	ENSP00000412178:p.Arg270Trp	Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	241	4	0.0165975	NM_001105540	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916105	0.73098	0.0	1.16E-4	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.26660	2.17;2.4;2.53;3.38;2.2;2.27;2.4;1.72	5.04	-0.961	0.10337	.	0.746320	0.12845	N	0.434428	T	0.43322	0.1242	L	0.58810	1.83	0.33310	D	0.566017	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.995;0.998;0.986;1.0;0.999;0.998;1.0;0.994	P;P;P;P;P;D;P;P;D;P	0.74674	0.677;0.836;0.654;0.676;0.733;0.921;0.827;0.676;0.984;0.822	T	0.57585	-0.7786	10	0.87932	D	0	.	12.2389	0.54532	0.5489:0.3618:0.0893:0.0	.	81;47;47;81;270;81;81;47;47;98	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	W	98;47;47;81;81;81;81;270	ENSP00000343065:R98W;ENSP00000378941:R47W;ENSP00000436273:R47W;ENSP00000436291:R81W;ENSP00000395684:R81W;ENSP00000391021:R81W;ENSP00000320340:R81W;ENSP00000412178:R270W	ENSP00000320340:R81W	R	+	1	2	DGKZ	46345496	0.990000	0.36364	0.985000	0.45067	0.975000	0.68041	0.504000	0.22626	-0.040000	0.13580	-0.276000	0.10085	CGG	.	.	weak		0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		T	46388920	C	T	46388920	3	4	15	1	0	0	0	0	1	0	0	0	4474	759	27	1	1258	1	DGKZ	11	46388920	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	451632	46388920	88617596	185	3805										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	584	30	0.0513699		WXS	Illumina HiSeq	Phase_I	545	32	0.0587156	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	15	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	9266677	55655597	79350919	186	3806										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	204	7	0.0343137		WXS	Illumina HiSeq	Phase_I	227	10	0.0440529	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	15	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2315606	57971203	77035313	187	3807										
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170412	58170412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agactaaatgtgtccccagtGtggatggaggcattcaggaa	13	7	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:58170412G>A	ENST00000309403.2	-	1	470	c.471C>T	c.(469-471)caC>caT	p.H157H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTCCCCAGTGTGGATGGAGG	0.468																																					p.H157H		Atlas-SNP	.											OR5B3,right_upper_lobe,carcinoma,-2,1	OR5B3	65	1	0			c.C471T						PASS	.						114	106	109					11																	58170412		2201	4295	6496	SO:0001819	synonymous_variant	441608	exon1			CCCAGTGTGGATG	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.471C>T	11.37:g.58170412G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_001005469	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																			.	.	none		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		A	58170412	G	A	58170412	2	1	15	1	0	0	0	0	0	0	0	1	11152	1368	48	2		2	OR5B3	11	58170412	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	199209	58170412	76836104	188	3808										
OR4D9	390199	hgsc.bcm.edu	37	chr11	59282709	59282709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcttcttccaccttctgggGggagcagacgttttttctct	9	11	4	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:59282709G>A	ENST00000329328.3	+	1	324	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTTCTGGGGGGAGCAGACG	0.488																																					p.G108G		Atlas-SNP	.											OR4D9,brain,glioma,+2,1	OR4D9	47	1	0			c.G324A						scavenged	.						88	86	86					11																	59282709		2201	4295	6496	SO:0001819	synonymous_variant	390199	exon1			TCTGGGGGGAGCA	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.324G>A	11.37:g.59282709G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	119	2	0.0168067	NM_001004711	Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																			.	.	none		0.488	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		A	59282709	G	A	59282709	2	1	15	1	0	0	0	0	0	0	0	1	11059	1219	43	2		2	OR4D9	11	59282709	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1112297	59282709	75723807	189	3809										
MS4A14	84689	hgsc.bcm.edu	37	chr11	60183214	60183214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcctcccacactagagaaaaAgccctcagaaaatatgtcca	6	13	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:60183214A>G	ENST00000300187.6	+	5	1050	c.773A>G	c.(772-774)aAg>aGg	p.K258R	MS4A14_ENST00000531783.1_Missense_Mutation_p.K291R|MS4A14_ENST00000395005.2_Missense_Mutation_p.K241R|MS4A14_ENST00000531787.1_Missense_Mutation_p.K146R|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	258						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTAGAGAAAAAGCCCTCAGAA	0.378																																					p.K291R		Atlas-SNP	.											MS4A14,NS,carcinoma,0,2	MS4A14	120	2	0			c.A872G						scavenged	.						55	54	54					11																	60183214		2203	4299	6502	SO:0001583	missense	84689	exon6			AGAAAAAGCCCTC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.773A>G	11.37:g.60183214A>G	ENSP00000300187:p.Lys258Arg	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_001261828	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	8.008	0.756924	0.15846	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.30448	1.53;2.72;1.53;3.1	3.58	-6.7	0.01766	.	5.939230	0.00964	N	0.003146	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.12785	-1.0534	10	0.22706	T	0.39	1.1772	12.6965	0.57008	0.2198:0.0:0.7802:0.0	.	241;258	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	R	146;258;241;291	ENSP00000437222:K146R;ENSP00000300187:K258R;ENSP00000378453:K241R;ENSP00000433761:K291R	ENSP00000300187:K258R	K	+	2	0	MS4A14	59939790	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.221000	0.02968	-1.670000	0.01468	-0.256000	0.11100	AAG	.	.	none		0.378	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			G	60183214	A	G	60183214	3	3	15	1	0	0	0	0	1	0	0	0	9858	72	3	3	791	3	MS4A14	11	60183214	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	900505	60183214	74823302	190	3810										
PPP2R5B	5526	hgsc.bcm.edu	37	chr11	64700699	64700699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttgatgagctcacagcctccTacaagctggaaaagcagcag	10	11	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:64700699T>C	ENST00000164133.2	+	13	1949	c.1327T>C	c.(1327-1329)Tac>Cac	p.Y443H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	443					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CACAGCCTCCTACAAGCTGGA	0.552																																					p.Y443H		Atlas-SNP	.											.	PPP2R5B	47	.	0			c.T1327C						PASS	.						96	81	87					11																	64700699		2201	4297	6498	SO:0001583	missense	5526	exon13			GCCTCCTACAAGC	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1327T>C	11.37:g.64700699T>C	ENSP00000164133:p.Tyr443His	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_006244	Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717126	0.68844	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	4.04	4.04	0.47022	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	M	0.70108	2.13	0.58432	D	0.999999	P	0.44195	0.828	P	0.53912	0.737	T	0.74878	-0.3514	9	0.66056	D	0.02	-16.1599	11.5916	0.50949	0.0:0.0:0.0:1.0	.	443	Q15173	2A5B_HUMAN	H	443	.	ENSP00000164133:Y443H	Y	+	1	0	PPP2R5B	64457275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.508000	0.81686	2.054000	0.61138	0.459000	0.35465	TAC	.	.	none		0.552	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		C	64700699	T	C	64700699	3	2	15	1	0	0	0	0	1	0	0	0	12393	1522	53	3	1373	3	PPP2R5B	11	64700699	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	4517485	64700699	70305817	191	3811										
NPAS4	266743	hgsc.bcm.edu	37	chr11	66191437	66191437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccaggaagagtgctccagcaCtaacccactcttcaccgcag	8	16	2	1	rs145746289		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:66191437C>A	ENST00000311034.2	+	7	1252	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	359					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCTCCAGCACTAACCCACTC	0.557																																					p.T359N		Atlas-SNP	.											.	NPAS4	133	.	0			c.C1076A						PASS	.						148	153	152					11																	66191437		2200	4295	6495	SO:0001583	missense	266743	exon7			CCAGCACTAACCC	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1076C>A	11.37:g.66191437C>A	ENSP00000311196:p.Thr359Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	49	17	0.346939	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720846	0.30503	.	.	ENSG00000174576	ENST00000311034	T	0.43688	0.94	4.81	3.88	0.44766	.	0.870088	0.09718	N	0.764833	T	0.25494	0.0620	N	0.08118	0	0.22468	N	0.999071	B	0.14438	0.01	B	0.13407	0.009	T	0.16482	-1.0401	10	0.23302	T	0.38	0.8502	12.7895	0.57526	0.0:0.8339:0.1661:0.0	.	359	Q8IUM7	NPAS4_HUMAN	N	359	ENSP00000311196:T359N	ENSP00000311196:T359N	T	+	2	0	NPAS4	65948013	0.994000	0.37717	0.903000	0.35520	0.977000	0.68977	3.604000	0.54081	1.219000	0.43474	0.563000	0.77884	ACT	C|1.000;T|0.000	.	alt		0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		A	66191437	C	A	66191437	3	1	15	1	0	0	0	0	1	0	0	0	10565	565	20	4	1102	4	NPAS4	11	66191437	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1490738	66191437	68815079	192	3812										
NPAS4	266743	hgsc.bcm.edu	37	chr11	66191694	66191694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcagcctccatgagcccttcCagacccatttgcccacccca	5	20	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:66191694C>T	ENST00000311034.2	+	7	1509	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	445					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGAGCCCTTCCAGACCCATTT	0.562																																					p.Q445X		Atlas-SNP	.											.	NPAS4	133	.	0			c.C1333T						PASS	.						187	184	185					11																	66191694		2200	4295	6495	SO:0001587	stop_gained	266743	exon7			CCCTTCCAGACCC	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1333C>T	11.37:g.66191694C>T	ENSP00000311196:p.Gln445*	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	74	4	0.0540541	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Nonsense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203210	0.95033	.	.	ENSG00000174576	ENST00000311034	.	.	.	4.71	4.71	0.59529	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-8.3061	13.0275	0.58823	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000311196:Q445X	Q	+	1	0	NPAS4	65948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.401000	0.34589	2.455000	0.83008	0.563000	0.77884	CAG	.	.	none		0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66191694	C	T	66191694	4	4	15	1	0	0	0	0	0	1	0	0	10565	595	21	2	1359	2	NPAS4	11	66191694	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	257	66191694	68814822	193	3813										
RBM14	10432	hgsc.bcm.edu	37	chr11	66391989	66391989	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cccttctttggtcgcgaccgCagccctctgcgccgttcacc	9	19	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:66391989C>A	ENST00000310137.4	+	2	781	c.642C>A	c.(640-642)cgC>cgA	p.R214R	RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	214					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GTCGCGACCGCAGCCCTCTGC	0.642																																					p.R214R		Atlas-SNP	.											RBM14,rectum,carcinoma,+1,1	RBM14	59	1	0			c.C642A						scavenged	.						43	44	44					11																	66391989		2200	4295	6495	SO:0001819	synonymous_variant	10432	exon2			CGACCGCAGCCCT	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.642C>A	11.37:g.66391989C>A		Somatic	42	1	0.0238095		WXS	Illumina HiSeq	Phase_I	50	2	0.04	NM_006328	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	CCDS8147.1																																																																																			.	.	none		0.642	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		A	66391989	C	A	66391989	2	1	15	1	0	0	0	0	0	0	0	1	13115	697	25	4		4	RBM14	11	66391989	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	200295	66391989	68614527	194	3814										
RPS6KB2	6199	hgsc.bcm.edu	37	chr11	67202509	67202509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcggcccagccccagcctgCcggagcccacggagctacct	11	19	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:67202509C>T	ENST00000312629.5	+	15	1363	c.1318C>T	c.(1318-1320)Ccg>Tcg	p.P440S	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	440	Pro-rich.				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)			CCCCAGCCTGCCGGAGCCCAC	0.672																																					p.P440S		Atlas-SNP	.											RPS6KB2_ENST00000312629,colon,carcinoma,-2,4	RPS6KB2	92	4	0			c.C1318T						scavenged	.						30	39	36					11																	67202509		1936	4122	6058	SO:0001583	missense	6199	exon15			AGCCTGCCGGAGC	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.1318C>T	11.37:g.67202509C>T	ENSP00000308413:p.Pro440Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	129	2	0.0155039	NM_003952	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381218	0.24944	.	.	ENSG00000175634	ENST00000312629	T	0.67698	-0.28	4.41	0.0873	0.14450	.	0.856818	0.10178	N	0.706221	T	0.38081	0.1027	N	0.08118	0	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.17715	-1.0360	10	0.30854	T	0.27	.	1.2339	0.01949	0.1682:0.4416:0.1852:0.205	.	440	Q9UBS0	KS6B2_HUMAN	S	440	ENSP00000308413:P440S	ENSP00000308413:P440S	P	+	1	0	RPS6KB2	66959085	0.000000	0.05858	0.035000	0.18076	0.485000	0.33311	-0.438000	0.06905	0.142000	0.18901	-0.369000	0.07265	CCG	.	.	none		0.672	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		T	67202509	C	T	67202509	3	4	15	1	0	0	0	0	1	0	0	0	13657	739	26	2	1376	2	RPS6KB2	11	67202509	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	810520	67202509	67804007	195	3815										
ALDH3B2	222	hgsc.bcm.edu	37	chr11	67432799	67432799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctctggcccccaatggccacGcggctgcagcccagcaatgc	11	18	1	0	rs80147122		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:67432799G>A	ENST00000349015.3	-	7	1101	c.663C>T	c.(661-663)cgC>cgT	p.R221R	ALDH3B2_ENST00000530069.1_Silent_p.R221R|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	221					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAATGGCCACGCGGCTGCAGC	0.632																																					p.R221R		Atlas-SNP	.											ALDH3B2,NS,haematopoietic_neoplasm,0,2	ALDH3B2	46	2	0			c.C663T						scavenged	.						52	59	57					11																	67432799		2200	4293	6493	SO:0001819	synonymous_variant	222	exon7			GGCCACGCGGCTG	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.663C>T	11.37:g.67432799G>A		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	253	5	0.0197628	NM_001031615	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																			.	.	strong		0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		A	67432799	G	A	67432799	2	1	15	1	0	0	0	0	0	0	0	1	500	1074	38	1		1	ALDH3B2	11	67432799	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	230290	67432799	67573717	196	3816										
FAM86C	55199	hgsc.bcm.edu	37	chr11	71498601	71498601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcatggcgcccgaggagaacGcggggagcgaactcttgctg	16	11	2	1	rs12283300	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:71498601G>T	ENST00000359244.4	+	1	42	c.19G>T	c.(19-21)Gcg>Tcg	p.A7S	FAM86C1_ENST00000426628.2_Missense_Mutation_p.A7S|FAM86C1_ENST00000346333.6_Missense_Mutation_p.A7S	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	7			A -> S (in dbSNP:rs12283300). {ECO:0000269|PubMed:14702039}.							lung(1)	1						CGAGGAGAACGCGGGGAGCGA	0.736													.|||	2243	0.447883	0.3328	0.3458	5008	,	,		9168	0.3423		0.5646	False		,,,				2504	0.6646				p.A7S		Atlas-SNP	.											FAM86C1_ENST00000426628,rectum,carcinoma,0,2	FAM86C1	27	2	0			c.G19T						scavenged	.						5	5	5					11																	71498601		2022	3792	5814	SO:0001583	missense	55199	exon1			GAGAACGCGGGGA	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.19G>T	11.37:g.71498601G>T	ENSP00000352182:p.Ala7Ser	Somatic	8	1	0.125		WXS	Illumina HiSeq	Phase_I	11	3	0.272727	NM_152563	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	838	0.3836996336996337	160	0.3252032520325203	130	0.35911602209944754	166	0.2902097902097902	382	0.503957783641161	.	11.43	1.635370	0.29068	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	1.78	0.792	0.18625	.	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	D;D;P	0.61080	0.961;0.989;0.561	P;D;B	0.74674	0.537;0.984;0.053	T	0.47611	-0.9104	8	0.72032	D	0.01	.	3.6282	0.08121	0.2602:0.0:0.7398:0.0	rs12283300;rs12283300	7;7;7	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	S	7	ENSP00000325662:A7S;ENSP00000352182:A7S;ENSP00000391329:A7S;ENSP00000436598:A7S	ENSP00000325662:A7S	A	+	1	0	FAM86C1	71176249	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.154000	0.16343	0.968000	0.38212	0.184000	0.17185	GCG	T|1.000;|0.000	1.000	weak		0.736	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		T	71498601	G	T	71498601	3	4	15	1	0	0	0	0	1	0	0	0	5646	1087	38	4	21	4	FAM86C	11	71498601	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4065802	71498601	63507915	197	3817										
LRRC32	2615	hgsc.bcm.edu	37	chr11	76371849	76371849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggtagatgagtctcgggagcGcggccaggtcggggaaatgg	20	7	1	2	rs201402758		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:76371849G>A	ENST00000407242.2	-	3	1030	c.788C>T	c.(787-789)gCg>gTg	p.A263V	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.A263V|LRRC32_ENST00000260061.5_Missense_Mutation_p.A263V|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	263					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCTCGGGAGCGCGGCCAGGTC	0.632																																					p.A263V		Atlas-SNP	.											.	LRRC32	74	.	0			c.C788T						PASS	.						59	59	59					11																	76371849		2200	4292	6492	SO:0001583	missense	2615	exon3			GGGAGCGCGGCCA	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.788C>T	11.37:g.76371849G>A	ENSP00000384126:p.Ala263Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	174	59	0.33908	NM_005512	Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	1.050	-0.676017	0.03378	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.79653	-1.29;-1.29;-1.29	4.55	1.48	0.22813	.	0.688404	0.14657	N	0.306188	T	0.60792	0.2296	L	0.28274	0.84	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.34129	-0.9841	10	0.16420	T	0.52	.	2.0366	0.03541	0.102:0.2514:0.3483:0.2982	.	263	Q14392	LRC32_HUMAN	V	263	ENSP00000260061:A263V;ENSP00000384126:A263V;ENSP00000385766:A263V	ENSP00000260061:A263V	A	-	2	0	LRRC32	76049497	0.000000	0.05858	0.133000	0.22050	0.150000	0.21749	0.012000	0.13287	1.116000	0.41820	0.555000	0.69702	GCG	.	.	weak		0.632	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76371849	G	A	76371849	3	1	15	1	0	0	0	0	1	0	0	0	8987	1087	38	1	1204	1	LRRC32	11	76371849	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4873248	76371849	58634667	198	3818										
GDPD4	220032	hgsc.bcm.edu	37	chr11	76996151	76996151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agtcaaagttaaagtattcaCtggatgtttctatccacagg	8	7	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:76996151C>T	ENST00000376217.2	-	2	282	c.32G>A	c.(31-33)aGt>aAt	p.S11N	GDPD4_ENST00000527489.1_5'UTR|GDPD4_ENST00000315938.4_Missense_Mutation_p.S11N			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	11					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAAGTATTCACTGGATGTTTC	0.383																																					p.S11N		Atlas-SNP	.											.	GDPD4	49	.	0			c.G32A						PASS	.						76	67	70					11																	76996151		2200	4292	6492	SO:0001583	missense	220032	exon2			TATTCACTGGATG	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.32G>A	11.37:g.76996151C>T	ENSP00000365390:p.Ser11Asn	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	26	0.295455	NM_182833	Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	c	0.018	-1.481167	0.01027	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.19669	2.13;2.13	3.94	2.82	0.32997	.	0.095444	0.64402	N	0.000002	T	0.02727	0.0082	N	0.00056	-2.365	0.19775	N	0.99995	B	0.02656	0.0	B	0.01281	0.0	T	0.42085	-0.9472	10	0.02654	T	1	-15.0283	6.3686	0.21469	0.0:0.111:0.0:0.889	.	11	Q6W3E5-2	.	N	11	ENSP00000365390:S11N;ENSP00000320815:S11N	ENSP00000320815:S11N	S	-	2	0	GDPD4	76673799	0.998000	0.40836	1.000000	0.80357	0.434000	0.31775	1.836000	0.39191	0.855000	0.35359	-0.374000	0.07098	AGT	.	.	none		0.383	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		T	76996151	C	T	76996151	3	4	15	1	0	0	0	0	1	0	0	0	6326	565	20	2	1590	2	GDPD4	11	76996151	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	624302	76996151	58010365	199	3819										
MTMR2	8898	hgsc.bcm.edu	37	chr11	95582866	95582866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caacagcattaacacttggcCgggcatcaaatataaagatt	7	9	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:95582866C>T	ENST00000346299.5	-	9	1305	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_Missense_Mutation_p.R250Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R250Q|MTMR2_ENST00000393223.3_Missense_Mutation_p.R250Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	322	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACACTTGGCCGGGCATCAAA	0.413																																					p.R322Q		Atlas-SNP	.											MTMR2_ENST00000346299,colon,carcinoma,+1,2	MTMR2	79	2	0			c.G965A						scavenged	.						168	168	168					11																	95582866		2201	4298	6499	SO:0001583	missense	8898	exon9			CTTGGCCGGGCAT	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.965G>A	11.37:g.95582866C>T	ENSP00000345752:p.Arg322Gln	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_016156	A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040876	0.93685	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44	5.17	4.26	0.50523	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.99525	4.61	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61658	0.855;0.892	D	0.98810	1.0743	10	0.87932	D	0	.	13.854	0.63515	0.0:0.9256:0.0:0.0744	.	322;322	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	322;250;250;250;250;305	ENSP00000345752:R322Q;ENSP00000376915:R250Q;ENSP00000386882:R250Q;ENSP00000343737:R250Q;ENSP00000396020:R250Q	ENSP00000345752:R322Q	R	-	2	0	MTMR2	95222514	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.755000	0.85180	1.169000	0.42739	0.591000	0.81541	CGG	.	.	none		0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		T	95582866	C	T	95582866	3	4	15	1	0	0	0	0	1	0	0	0	9944	652	23	1	994	1	MTMR2	11	95582866	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	18586715	95582866	39423650	200	3820										
KIAA1377	57562	hgsc.bcm.edu	37	chr11	101834043	101834043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agagcaaaaataattagaaaAccaggatctgcaaaagtcca	7	7	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:101834043A>C	ENST00000263468.8	+	6	2547	c.2277A>C	c.(2275-2277)aaA>aaC	p.K759N	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K560N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	759										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAATTAGAAAACCAGGATCTG	0.378																																					p.K759N		Atlas-SNP	.											.	KIAA1377	111	.	0			c.A2277C						PASS	.						65	72	70					11																	101834043		2203	4299	6502	SO:0001583	missense	57562	exon6			TAGAAAACCAGGA	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2277A>C	11.37:g.101834043A>C	ENSP00000263468:p.Lys759Asn	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	80	9	0.1125	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	8.638	0.895225	0.17613	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07327	3.2;3.2	5.23	5.23	0.72850	.	0.157535	0.45867	D	0.000338	T	0.06645	0.0170	N	0.22421	0.69	0.27731	N	0.944796	B	0.32467	0.372	B	0.29077	0.098	T	0.18903	-1.0322	10	0.72032	D	0.01	-14.8212	11.7668	0.51935	0.8685:0.0:0.0:0.1315	.	759	Q9P2H0	K1377_HUMAN	N	759;560	ENSP00000263468:K759N;ENSP00000443184:K560N	ENSP00000263468:K759N	K	+	3	2	KIAA1377	101339253	0.995000	0.38212	0.714000	0.30535	0.134000	0.20937	3.343000	0.52167	2.093000	0.63338	0.533000	0.62120	AAA	.	.	none		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		C	101834043	A	C	101834043	3	2	15	1	0	0	0	0	1	0	0	0	8227	40	2	5	2299	5	KIAA1377	11	101834043	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	6251177	101834043	33172473	201	3821										
KDELC2	143888	hgsc.bcm.edu	37	chr11	108357058	108357058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctggagattgatgctgggAaaggaagcaaaatcttttgc	13	5	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:108357058A>G	ENST00000323468.5	-	3	575	c.510T>C	c.(508-510)ttT>ttC	p.F170F	KDELC2_ENST00000375648.1_Silent_p.F114F|KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Silent_p.F114F	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	170						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGATGCTGGGAAAGGAAGCAA	0.448																																					p.F170F		Atlas-SNP	.											KDELC2,bladder,carcinoma,-2,1	KDELC2	37	1	0			c.T510C						scavenged	.						160	145	150					11																	108357058		1869	4104	5973	SO:0001819	synonymous_variant	143888	exon3			GCTGGGAAAGGAA	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.510T>C	11.37:g.108357058A>G		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	241	4	0.0165975	NM_153705	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	CCDS41711.1																																																																																			.	.	none		0.448	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		G	108357058	A	G	108357058	2	3	15	1	0	0	0	0	0	0	0	1	8118	243	9	2		2	KDELC2	11	108357058	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	6523015	108357058	26649458	202	3822										
OR10G8	219869	hgsc.bcm.edu	37	chr11	123900411	123900411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggacgcccccctctttggaGtcttcctggtggtttacgtg	12	12	2	0	rs202220125	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr11:123900411G>A	ENST00000431524.1	+	1	115	c.82G>A	c.(82-84)Gtc>Atc	p.V28I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28						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)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTCTTTGGAGTCTTCCTGGT	0.572													G|||	7	0.00139776	0.0	0.0043	5008	,	,		19799	0.0		0.001	False		,,,				2504	0.0031				p.V28I		Atlas-SNP	.											OR10G8,right_upper_lobe,carcinoma,-2,2	OR10G8	132	2	0			c.G82A						scavenged	.						195	177	183					11																	123900411		2201	4299	6500	SO:0001583	missense	219869	exon1			TTTGGAGTCTTCC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.82G>A	11.37:g.123900411G>A	ENSP00000389072:p.Val28Ile	Somatic	294	6	0.0204082		WXS	Illumina HiSeq	Phase_I	251	6	0.0239044	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054107	0.08291	.	.	ENSG00000234560	ENST00000431524	T	0.02916	4.11	2.95	-4.35	0.03656	.	0.824866	0.10366	N	0.683403	T	0.01254	0.0041	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48258	-0.9051	10	0.10377	T	0.69	.	1.3401	0.02153	0.2804:0.2787:0.3033:0.1376	.	28	Q8NGN5	O10G8_HUMAN	I	28	ENSP00000389072:V28I	ENSP00000389072:V28I	V	+	1	0	OR10G8	123405621	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-3.513000	0.00446	-1.037000	0.03283	-0.324000	0.08512	GTC	G|0.999;A|0.001	0.001	weak		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900411	G	A	123900411	3	1	15	1	0	0	0	0	1	0	0	0	10903	1029	36	2	84	2	OR10G8	11	123900411	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	15543353	123900411	11106105	203	3823										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2676736	2676736	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctctcctgggcctgccagaCacggcaaacaaggccctgct	10	17	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:2676736C>T	ENST00000347598.4	+	13	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	CACNA1C_ENST00000335762.5_Splice_Site_p.D582D|CACNA1C_ENST00000399629.1_Splice_Site_p.D557D|CACNA1C_ENST00000480911.1_Splice_Site_p.D557D|CACNA1C_ENST00000399644.1_Splice_Site_p.D557D|CACNA1C_ENST00000399606.1_Splice_Site_p.D557D|CACNA1C_ENST00000399601.1_Splice_Site_p.D557D|CACNA1C_ENST00000402845.3_Splice_Site_p.D557D|CACNA1C_ENST00000399591.1_Splice_Site_p.D557D|CACNA1C_ENST00000399649.1_Splice_Site_p.D557D|CACNA1C_ENST00000344100.3_Splice_Site_p.D557D|CACNA1C_ENST00000399655.1_Splice_Site_p.D557D|CACNA1C_ENST00000399637.1_Splice_Site_p.D557D|CACNA1C_ENST00000399595.1_Splice_Site_p.D557D|CACNA1C_ENST00000399603.1_Splice_Site_p.D557D|CACNA1C_ENST00000406454.3_Splice_Site_p.D557D|CACNA1C_ENST00000399621.1_Splice_Site_p.D557D|CACNA1C_ENST00000399638.1_Splice_Site_p.D557D|CACNA1C_ENST00000399641.1_Splice_Site_p.D557D|CACNA1C_ENST00000399617.1_Splice_Site_p.D557D|CACNA1C_ENST00000399634.1_Splice_Site_p.D557D|CACNA1C_ENST00000327702.7_Splice_Site_p.D557D|CACNA1C_ENST00000399597.1_Splice_Site_p.D557D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	557					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCTGCCAGACACGGCAAACA	0.567																																					p.D557D		Atlas-SNP	.											.	CACNA1C	1023	.	0			c.C1671T						PASS	.						18	20	19					12																	2676736		2095	4247	6342	SO:0001630	splice_region_variant	775	exon13			GCCAGACACGGCA	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1670-1C>T	12.37:g.2676736C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_001129831	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																			.	.	none		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Silent	T	2676736	C	T	2676736	5	4	15	1	0	0	0	0	0	0	1	0	2540	492	17	2	1829	2	CACNA1C	12	2676736	Splice_Site	SNP	C	TCGA-FF-8061-01A-11D-2210-10		2676736	131175159	204	3824										
C12orf53	196500	hgsc.bcm.edu	37	chr12	6806573	6806573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggggttgcgagcccatgagGggctgcaaaaccatagtcca	14	10	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:6806573G>T	ENST00000540656.1	-	3	741	c.403C>A	c.(403-405)Cct>Act	p.P135T	PIANP_ENST00000534837.1_Missense_Mutation_p.P135T|PIANP_ENST00000320591.5_Missense_Mutation_p.P135T	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	135						integral component of membrane (GO:0016021)											AGCCCATGAGGGGCTGCAAAA	0.602																																					p.P135T		Atlas-SNP	.											.	.	.	.	0			c.C403A						PASS	.						50	54	53					12																	6806573		1940	4123	6063	SO:0001583	missense	196500	exon3			CATGAGGGGCTGC	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"PILR-associating neural protein"		"chromosome 12 open reading frame 53"	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.403C>A	12.37:g.6806573G>T	ENSP00000442157:p.Pro135Thr	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	109	5	0.0458716	NM_001244014	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Missense_Mutation	SNP	ENST00000540656.1	37	CCDS44818.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148879	0.57151	.	.	ENSG00000139200	ENST00000540656;ENST00000320591;ENST00000534837;ENST00000439553;ENST00000545917	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.05	4.05	0.47172	.	0.135360	0.50627	D	0.000106	T	0.19846	0.0477	N	0.14661	0.345	0.31623	N	0.650026	P	0.40282	0.711	B	0.27887	0.084	T	0.28650	-1.0037	10	0.72032	D	0.01	-9.1833	8.2372	0.31634	0.1749:0.0:0.8251:0.0	.	135	Q8IYJ0	CL053_HUMAN	T	135;135;135;109;135	ENSP00000442157:P135T;ENSP00000317818:P135T;ENSP00000443919:P135T;ENSP00000444605:P135T	ENSP00000317818:P135T	P	-	1	0	C12orf53	6676834	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.423000	0.59861	1.802000	0.52723	0.305000	0.20034	CCT	.	.	none		0.602	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		T	6806573	G	T	6806573	3	4	15	1	0	0	0	0	1	0	0	0	1698	1232	43	4	461	4	C12orf53	12	6806573	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4129837	6806573	127045322	205	3825										
PRH1	5554	hgsc.bcm.edu	37	chr12	11035670	11035670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgggatttacctgatattacGaggggaacatcttcctggct	11	8	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:11035670G>A	ENST00000428168.2	-	2	127	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	30	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CTGATATTACGAGGGGAACAT	0.383																																					p.L30L		Atlas-SNP	.											PRH1,colon,carcinoma,0,1	PRH1	17	1	0			c.C90T						scavenged	.						143	144	144					12																	11035670		2203	4300	6503	SO:0001819	synonymous_variant	5554	exon2			TATTACGAGGGGA			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.90C>T	12.37:g.11035670G>A		Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	129	3	0.0232558	NM_006250	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000428168.2	37																																																																																				.	.	none		0.383	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		A	11035670	G	A	11035670	2	1	15	1	0	0	0	0	0	0	0	1	12482	1045	37	1		1	PRH1	12	11035670	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4229097	11035670	122816225	206	3826										
PRB3	5544	hgsc.bcm.edu	37	chr12	11420773	11420773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtccttctggctttcccggaCgaggcgggggaccttgggac	16	12	1	0	rs200940772		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:11420773C>T	ENST00000279573.7	-	3	545	c.410G>A	c.(409-411)cGt>cAt	p.R137H	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.R137H			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	137	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> H (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGCGGGGG	0.642																																					p.R137H		Atlas-SNP	.											PRB3,NS,carcinoma,0,2	PRB3	84	2	0			c.G410A						scavenged	.						26	28	27					12																	11420773		1477	3379	4856	SO:0001583	missense	5544	exon3			CCCGGACGAGGCG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.410G>A	12.37:g.11420773C>T	ENSP00000279573:p.Arg137His	Somatic	156	10	0.0641026		WXS	Illumina HiSeq	Phase_I	154	15	0.0974026	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	0.011	-1.697568	0.00725	.	.	ENSG00000197870	ENST00000381842	T	0.04917	3.53	0.707	-1.41	0.08941	.	21.670500	0.01603	N	0.022149	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38650	-0.9651	9	0.41790	T	0.15	.	4.061	0.09839	0.0:0.1851:0.2048:0.6101	.	137	Q04118	PRB3_HUMAN	H	137	ENSP00000371264:R137H	ENSP00000279573:R137H	R	-	2	0	PRB3	11312040	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.782000	0.04643	-2.300000	0.00658	-1.404000	0.01136	CGT	C|0.998;T|0.002	0.002	weak		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11420773	C	T	11420773	3	4	15	1	0	0	0	0	1	0	0	0	12444	536	19	1	527	1	PRB3	12	11420773	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	385103	11420773	122431122	207	3827										
LRRK2	120892	hgsc.bcm.edu	37	chr12	40668487	40668487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tatccctggaaggtgctatgGattcagtgcttcacacactg	10	10	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:40668487G>A	ENST00000298910.7	+	15	1817	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	LRRK2_ENST00000343742.2_Missense_Mutation_p.D587N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	587					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D587Y(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGTGCTATGGATTCAGTGCT	0.378																																					p.D587N		Atlas-SNP	.											LRRK2,NS,carcinoma,0,1	LRRK2	763	1	2	Substitution - Missense(2)	endometrium(2)	c.G1759A						scavenged	.						150	147	148					12																	40668487		2203	4300	6503	SO:0001583	missense	120892	exon15			GCTATGGATTCAG	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1759G>A	12.37:g.40668487G>A	ENSP00000298910:p.Asp587Asn	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	130	3	0.0230769	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950919	0.73787	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.69926	-0.44;-0.44;-0.44	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.047534	0.85682	D	0.000000	T	0.78953	0.4365	M	0.61703	1.905	0.54753	D	0.999988	D;D	0.69078	0.986;0.997	P;P	0.59546	0.859;0.798	T	0.77587	-0.2532	10	0.51188	T	0.08	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	587;587	E9PC85;Q5S007	.;LRRK2_HUMAN	N	335;587;587	ENSP00000398726:D335N;ENSP00000341930:D587N;ENSP00000298910:D587N	ENSP00000298910:D587N	D	+	1	0	LRRK2	38954754	1.000000	0.71417	0.146000	0.22360	0.445000	0.32107	8.103000	0.89550	2.833000	0.97629	0.585000	0.79938	GAT	.	.	none		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40668487	G	A	40668487	3	1	15	1	0	0	0	0	1	0	0	0	9033	1174	41	2	1817	2	LRRK2	12	40668487	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	29247714	40668487	93183408	208	3828										
MMP19	4327	hgsc.bcm.edu	37	chr12	56230903	56230903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gggagtggtattcccacctgAtggggtagtgtctatagtcc	14	8	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:56230903A>G	ENST00000322569.4	-	9	1535	c.1444T>C	c.(1444-1446)Tca>Cca	p.S482P	MMP19_ENST00000394182.1_Missense_Mutation_p.S196P|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.S459P|MMP19_ENST00000409200.3_3'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	482					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TTCCCACCTGATGGGGTAGTG	0.522																																					p.S482P		Atlas-SNP	.											MMP19,NS,carcinoma,0,1	MMP19	61	1	0			c.T1444C						scavenged	.						248	245	246					12																	56230903		2203	4300	6503	SO:0001583	missense	4327	exon9			CACCTGATGGGGT	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1444T>C	12.37:g.56230903A>G	ENSP00000313437:p.Ser482Pro	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	169	3	0.0177515	NM_002429	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000533	0.35320	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.18338	4.48;2.39;2.22	5.71	-1.72	0.08107	.	1.775360	0.02935	N	0.139662	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.14578	0.001;0.011	T	0.22871	-1.0204	10	0.25751	T	0.34	.	1.2218	0.01925	0.4167:0.284:0.1617:0.1376	.	482;196	Q99542;Q99542-3	MMP19_HUMAN;.	P	196;482;459	ENSP00000377736:S196P;ENSP00000313437:S482P;ENSP00000446979:S459P	ENSP00000313437:S482P	S	-	1	0	MMP19	54517170	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.380000	0.20602	-0.178000	0.10672	0.459000	0.35465	TCA	.	.	none		0.522	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		G	56230903	A	G	56230903	3	3	15	1	0	0	0	0	1	0	0	0	9657	333	12	2	86	2	MMP19	12	56230903	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	15562416	56230903	77620992	209	3829										
BTG1	694	hgsc.bcm.edu	37	chr12	92539304	92539304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggcggcccgggtgtagaagGgatgcatgggggcggcgtgc	22	8	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:92539304G>C	ENST00000256015.3	-	1	369	c.8C>G	c.(7-9)cCc>cGc	p.P3R	C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	3					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GGTGTAGAAGGGATGCATggg	0.746			T	MYC	BCLL																																p.P3R		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	0			c.C8G						PASS	.						25	29	28					12																	92539304		2199	4292	6491	SO:0001583	missense	694	exon1			TAGAAGGGATGCA		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.8C>G	12.37:g.92539304G>C	ENSP00000256015:p.Pro3Arg	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465474	0.63513	.	.	ENSG00000133639	ENST00000256015	T	0.21361	2.01	3.71	3.71	0.42584	.	0.119071	0.56097	D	0.000026	T	0.15219	0.0367	L	0.29908	0.895	0.45718	D	0.998629	B	0.33694	0.421	B	0.24541	0.054	T	0.09707	-1.0662	10	0.51188	T	0.08	-4.5437	15.638	0.76970	0.0:0.0:1.0:0.0	.	3	P62324	BTG1_HUMAN	R	3	ENSP00000256015:P3R	ENSP00000256015:P3R	P	-	2	0	BTG1	91063435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.824000	0.86668	1.883000	0.54544	0.455000	0.32223	CCC	.	.	none		0.746	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			C	92539304	G	C	92539304	3	2	15	1	0	0	0	0	1	0	0	0	1553	1232	43	4	515	4	BTG1	12	92539304	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	36308401	92539304	41312591	210	3830										
PLXNC1	10154	hgsc.bcm.edu	37	chr12	94694764	94694764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagaagacaccacatatagaCggctgtttgtcagtgattgc	10	8	1	4	rs113780946		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:94694764C>T	ENST00000258526.4	+	28	4566	c.4317C>T	c.(4315-4317)gaC>gaT	p.D1439D	PLXNC1_ENST00000545312.1_Silent_p.D178D|PLXNC1_ENST00000547057.1_Silent_p.D486D	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1439					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						CACATATAGACGGCTGTTTGT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18976	0.001		0.0	False		,,,				2504	0.0				p.D1439D		Atlas-SNP	.											PLXNC1,right_lower_lobe,carcinoma,0,1	PLXNC1	135	1	0			c.C4317T						scavenged	.						146	131	136					12																	94694764		2203	4300	6503	SO:0001819	synonymous_variant	10154	exon28			TATAGACGGCTGT	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.4317C>T	12.37:g.94694764C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	204	3	0.0147059	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																			C|0.999;T|0.001	0.001	strong		0.443	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94694764	C	T	94694764	2	4	15	1	0	0	0	0	0	0	0	1	12126	535	19	1		1	PLXNC1	12	94694764	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2155460	94694764	39157131	211	3831										
WSCD2	9671	hgsc.bcm.edu	37	chr12	108620920	108620920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggactcctagttacttcattGtgtaccagacacaagtccaa	7	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:108620920G>A	ENST00000332082.4	+	7	1776	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	WSCD2_ENST00000549903.1_Missense_Mutation_p.V320M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V320M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V320M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	320	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TTACTTCATTGTGTACCAGAC	0.587																																					p.V320M		Atlas-SNP	.											.	WSCD2	125	.	0			c.G958A						PASS	.						59	63	61					12																	108620920		2041	4193	6234	SO:0001583	missense	9671	exon6			TTCATTGTGTACC		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.958G>A	12.37:g.108620920G>A	ENSP00000331933:p.Val320Met	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	102	17	0.166667	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899521	0.72754	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.38401	1.14;4.62;1.14;4.62	5.22	5.22	0.72569	Carbohydrate-binding WSC (1);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.72894	2.215	0.80722	D	1	P;D	0.71674	0.587;0.998	B;D	0.78314	0.146;0.991	T	0.60692	-0.7213	10	0.52906	T	0.07	-25.5959	17.9638	0.89093	0.0:0.0:1.0:0.0	.	320;320	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	M	320	ENSP00000448047:V320M;ENSP00000261400:V320M;ENSP00000331933:V320M;ENSP00000447272:V320M	ENSP00000261400:V320M	V	+	1	0	WSCD2	107145050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.078000	0.71282	2.725000	0.93324	0.655000	0.94253	GTG	.	.	none		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		A	108620920	G	A	108620920	3	1	15	1	0	0	0	0	1	0	0	0	17404	1377	48	2	976	2	WSCD2	12	108620920	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	13926156	108620920	25230975	212	3832										
CIT	11113	hgsc.bcm.edu	37	chr12	120295436	120295436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caaagtgaccacaacctacaAgacttctgacttcgaagtcc	6	13	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:120295436A>G	ENST00000261833.7	-	4	357	c.305T>C	c.(304-306)cTt>cCt	p.L102P	CIT_ENST00000392521.2_Missense_Mutation_p.L102P	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAACCTACAAGACTTCTGAC	0.473																																					p.L102P		Atlas-SNP	.											.	CIT	535	.	0			c.T305C						PASS	.						190	190	190					12																	120295436		2203	4300	6503	SO:0001583	missense	11113	exon4			CCTACAAGACTTC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.305T>C	12.37:g.120295436A>G	ENSP00000261833:p.Leu102Pro	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	110	33	0.3	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231625	0.58777	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.42513	0.97;0.97;3.04	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);	0.089941	0.42294	D	0.000735	T	0.38772	0.1053	L	0.44542	1.39	0.80722	D	1	P;B	0.40107	0.703;0.0	B;B	0.37650	0.255;0.014	T	0.39663	-0.9603	10	0.87932	D	0	.	15.7159	0.77667	1.0:0.0:0.0:0.0	.	102;102	Q2M5E1;O14578	.;CTRO_HUMAN	P	102;102;19	ENSP00000376306:L102P;ENSP00000261833:L102P;ENSP00000443199:L19P	ENSP00000261833:L102P	L	-	2	0	CIT	118779819	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	9.027000	0.93706	2.170000	0.68504	0.482000	0.46254	CTT	.	.	none		0.473	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		G	120295436	A	G	120295436	3	3	15	1	0	0	0	0	1	0	0	0	3438	72	3	3	5954	3	CIT	12	120295436	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	11674516	120295436	13556459	213	3833										
CLIP1	6249	hgsc.bcm.edu	37	chr12	122839024	122839024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tctcctcttcaagctggttgAgaagctccaccttctccctg	7	15	4	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:122839024A>G	ENST00000540338.1	-	6	1324	c.1283T>C	c.(1282-1284)cTc>cCc	p.L428P	CLIP1_ENST00000361654.4_Missense_Mutation_p.L428P|CLIP1_ENST00000545889.1_Missense_Mutation_p.L129P|CLIP1_ENST00000537178.1_Missense_Mutation_p.L428P|CLIP1_ENST00000302528.7_Missense_Mutation_p.L428P|CLIP1_ENST00000358808.2_Missense_Mutation_p.L428P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	428					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGCTGGTTGAGAAGCTCCAC	0.502																																					p.L428P		Atlas-SNP	.											CLIP1,pharynx,carcinoma,+1,1	CLIP1	126	1	0			c.T1283C						scavenged	.						136	109	118					12																	122839024		2203	4300	6503	SO:0001583	missense	6249	exon7			TGGTTGAGAAGCT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1283T>C	12.37:g.122839024A>G	ENSP00000439093:p.Leu428Pro	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	125	4	0.032	NM_002956	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719672	0.89205	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000450731;ENST00000537004	T;T;T;T;T;T;T	0.70399	2.59;0.46;0.46;0.48;0.51;-0.06;-0.48	5.84	5.84	0.93424	.	0.062472	0.64402	D	0.000003	T	0.80959	0.4724	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.988;0.991;0.997;0.997;0.993	T	0.79300	-0.1860	10	0.35671	T	0.21	-6.8179	16.2108	0.82158	1.0:0.0:0.0:0.0	.	362;129;428;428;428	F6VGP8;F5H0N7;P30622-2;P30622-1;P30622	.;.;.;.;CLIP1_HUMAN	P	129;428;428;273;428;428;362;13;362	ENSP00000438743:L129P;ENSP00000303585:L428P;ENSP00000351665:L428P;ENSP00000445531:L428P;ENSP00000439093:L428P;ENSP00000437786:L362P;ENSP00000441409:L362P	ENSP00000303585:L428P	L	-	2	0	CLIP1	121404977	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	CTC	.	.	none		0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122839024	A	G	122839024	3	3	15	1	0	0	0	0	1	0	0	0	3532	304	11	3	3076	3	CLIP1	12	122839024	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2543588	122839024	11012871	214	3834										
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130892335	130892335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acagggccaccattctccgcGtcgataccgaatgacgcctg	10	15	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr12:130892335G>A	ENST00000261655.4	-	16	3024	c.2861C>T	c.(2860-2862)aCg>aTg	p.T954M		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	954	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CATTCTCCGCGTCGATACCGA	0.512																																					p.T954M		Atlas-SNP	.											RIMBP2,NS,carcinoma,+1,1	RIMBP2	220	1	0			c.C2861T						PASS	.						290	222	245					12																	130892335		2203	4300	6503	SO:0001583	missense	23504	exon16			CTCCGCGTCGATA	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2861C>T	12.37:g.130892335G>A	ENSP00000261655:p.Thr954Met	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	121	42	0.347107	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189429	0.78789	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.29397	1.57;1.57	4.61	4.61	0.57282	Src homology-3 domain (2);	0.054336	0.64402	D	0.000001	T	0.44201	0.1282	L	0.31371	0.925	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.36504	-0.9745	10	0.40728	T	0.16	-14.8894	17.447	0.87580	0.0:0.0:1.0:0.0	.	954	O15034	RIMB2_HUMAN	M	954;91	ENSP00000261655:T954M;ENSP00000439030:T91M	ENSP00000261655:T954M	T	-	2	0	RIMBP2	129458288	1.000000	0.71417	0.018000	0.16275	0.034000	0.12701	9.767000	0.98960	2.102000	0.63906	0.555000	0.69702	ACG	.	.	none		0.512	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130892335	G	A	130892335	3	1	15	1	0	0	0	0	1	0	0	0	13363	1145	40	1	313	1	RIMBP2	12	130892335	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	8053311	130892335	2959560	215	3835										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751463	19751463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aggttggtgtacgtgggacgCtcgatgtccaggttgcgccg	17	9	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:19751463C>T	ENST00000400113.3	-	4	764	c.660G>A	c.(658-660)gaG>gaA	p.E220E		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	220					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACGTGGGACGCTCGATGTCCA	0.567																																					p.E220E		Atlas-SNP	.											TUBA3C,NS,carcinoma,-2,1	TUBA3C	166	1	0			c.G660A						scavenged	.						229	192	205					13																	19751463		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GGGACGCTCGATG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.660G>A	13.37:g.19751463C>T		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	280	3	0.0107143	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			.	.	none		0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751463	C	T	19751463	2	4	15	1	0	0	0	0	0	0	0	1	16743	796	28	2		2	TUBA3C	13	19751463	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10		19751463	95418415	216	3836										
GSX1	219409	hgsc.bcm.edu	37	chr13	28367061	28367061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gggccgcccgcgctgcctctActcaaggcttccttcccacc	9	20	2	0	rs1231058	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:28367061A>G	ENST00000302945.2	+	1	282	c.234A>G	c.(232-234)ctA>ctG	p.L78L		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	78					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		cgcTGCCTCTACTCAAGGCTT	0.751													G|||	4592	0.916933	0.9834	0.8732	5008	,	,		10675	0.997		0.7972	False		,,,				2504	0.8988				p.L78L		Atlas-SNP	.											.	GSX1	20	.	0			c.A234G						PASS	.	G		3048,136		1461,126,5	2	3	3		234	1.1	1	13	dbSNP_87	3	5457,1143		2229,999,72	no	coding-synonymous	GSX1	NM_145657.1		3690,1125,77	GG,GA,AA		17.3182,4.2714,13.0724		78/265	28367061	8505,1279	1592	3300	4892	SO:0001819	synonymous_variant	219409	exon1			GCCTCTACTCAAG	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.234A>G	13.37:g.28367061A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_145657	Q9UD62	Silent	SNP	ENST00000302945.2	37	CCDS9326.1																																																																																			A|0.104;G|0.896	0.896	strong		0.751	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		G	28367061	A	G	28367061	2	3	15	1	0	0	0	0	0	0	0	1	6849	378	14	2		2	GSX1	13	28367061	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	8615598	28367061	86802817	217	3837										
PDS5B	23047	hgsc.bcm.edu	37	chr13	33316792	33316792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaaataatcacagtaaatcaGgaacttctaccttaagattg	5	7	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:33316792G>A	ENST00000315596.10	+	23	2725	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	847					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGTAAATCAGGAACTTCTAC	0.338																																					p.G847R		Atlas-SNP	.											.	PDS5B	141	.	0			c.G2539A						PASS	.						136	127	129					13																	33316792		1863	4106	5969	SO:0001583	missense	23047	exon23			AAATCAGGAACTT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2539G>A	13.37:g.33316792G>A	ENSP00000313851:p.Gly847Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	123	38	0.308943	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204381	0.95033	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	P	0.60949	0.881	T	0.72283	-0.4339	9	0.56958	D	0.05	-8.6067	20.1294	0.97995	0.0:0.0:1.0:0.0	.	847	Q9NTI5	PDS5B_HUMAN	R	847	.	ENSP00000313851:G847R	G	+	1	0	PDS5B	32214792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.758000	0.94735	0.591000	0.81541	GGA	.	.	none		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		A	33316792	G	A	33316792	3	1	15	1	0	0	0	0	1	0	0	0	11692	1001	35	2	2625	2	PDS5B	13	33316792	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	4949731	33316792	81853086	218	3838										
NBEA	26960	hgsc.bcm.edu	37	chr13	35782857	35782857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gagtgttgtggtgcctgtaaAgaaaccacctccaggtagtt	12	8	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:35782857A>G	ENST00000400445.3	+	32	5921	c.5387A>G	c.(5386-5388)aAg>aGg	p.K1796R	NBEA_ENST00000379939.2_Missense_Mutation_p.K1793R|NBEA_ENST00000310336.4_Missense_Mutation_p.K1796R|NBEA_ENST00000540320.1_Missense_Mutation_p.K1796R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1796					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGCCTGTAAAGAAACCACCT	0.428																																					p.K1796R		Atlas-SNP	.											.	NBEA	340	.	0			c.A5387G						PASS	.						63	60	61					13																	35782857		1837	4085	5922	SO:0001583	missense	26960	exon32			CTGTAAAGAAACC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5387A>G	13.37:g.35782857A>G	ENSP00000383295:p.Lys1796Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	68	26	0.382353	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708964	0.68615	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.60171	0.21;0.22;0.22;0.21	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.65975	2.015	0.80722	D	1	P;P	0.42409	0.779;0.666	B;B	0.34346	0.141;0.18	T	0.61768	-0.6995	10	0.52906	T	0.07	.	16.056	0.80805	1.0:0.0:0.0:0.0	.	1796;1793	Q8NFP9;Q5T321	NBEA_HUMAN;.	R	1796;1796;1793;1796;423	ENSP00000440951:K1796R;ENSP00000383295:K1796R;ENSP00000369271:K1793R;ENSP00000308534:K1796R	ENSP00000308534:K1796R	K	+	2	0	NBEA	34680857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.855000	0.92236	2.178000	0.69098	0.533000	0.62120	AAG	.	.	none		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	35782857	A	G	35782857	3	3	15	1	0	0	0	0	1	0	0	0	10187	72	3	3	5513	3	NBEA	13	35782857	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2466065	35782857	79387021	219	3839										
DHRS12	79758	hgsc.bcm.edu	37	chr13	52345982	52345982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtgtcggcccagccaggatgCatggaagaaaaatggatggc	15	8	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:52345982C>T	ENST00000444610.2	-	8	694	c.681G>A	c.(679-681)atG>atA	p.M227I	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Missense_Mutation_p.M178I|DHRS12_ENST00000218981.1_Missense_Mutation_p.M178I	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	227							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		AGCCAGGATGCATGGAAGAAA	0.557																																					p.M227I		Atlas-SNP	.											.	DHRS12	28	.	0			c.G681A						PASS	.						93	101	99					13																	52345982		2203	4300	6503	SO:0001583	missense	79758	exon8			AGGATGCATGGAA	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.681G>A	13.37:g.52345982C>T	ENSP00000411565:p.Met227Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	142	34	0.239437	NM_001270424	Q96GB2|Q9H8H1	Missense_Mutation	SNP	ENST00000444610.2	37	CCDS58292.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286334	0.59867	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	T;T;T	0.17054	2.3;2.3;3.33	4.57	0.634	0.17718	NAD(P)-binding domain (1);	0.046421	0.85682	D	0.000000	T	0.26810	0.0656	L	0.55213	1.73	0.30247	N	0.794416	B;D;D	0.69078	0.34;0.997;0.997	B;D;D	0.66847	0.171;0.947;0.932	T	0.07404	-1.0774	10	0.62326	D	0.03	.	4.3567	0.11181	0.1627:0.541:0.0:0.2963	.	178;178;227	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	I	227;178;178	ENSP00000411565:M227I;ENSP00000218981:M178I;ENSP00000280056:M178I	ENSP00000218981:M178I	M	-	3	0	DHRS12	51243983	1.000000	0.71417	0.007000	0.13788	0.080000	0.17528	1.538000	0.36094	0.539000	0.28788	-0.262000	0.10625	ATG	.	.	none		0.557	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		T	52345982	C	T	52345982	3	4	15	1	0	0	0	0	1	0	0	0	4488	710	25	2	463	2	DHRS12	13	52345982	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	16563125	52345982	62823896	220	3840										
PCDH17	27253	hgsc.bcm.edu	37	chr13	58207600	58207600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggcctaatccgtgtgaaggGcaatctggactatgaggaaa	13	8	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:58207600G>A	ENST00000377918.3	+	1	946	c.920G>A	c.(919-921)gGc>gAc	p.G307D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGTGTGAAGGGCAATCTGGAC	0.582																																					p.G307D	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											PCDH17,NS,carcinoma,+1,1	PCDH17	304	1	0			c.G920A						PASS	.						64	61	62					13																	58207600		2203	4300	6503	SO:0001583	missense	27253	exon1			TGAAGGGCAATCT	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.920G>A	13.37:g.58207600G>A	ENSP00000367151:p.Gly307Asp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	66	15	0.227273	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663894	0.67700	.	.	ENSG00000118946	ENST00000377918	T	0.51817	0.69	5.57	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.044369	0.85682	D	0.000000	T	0.59046	0.2165	L	0.39467	1.215	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.76071	0.978;0.987	T	0.54774	-0.8243	9	.	.	.	.	15.9011	0.79377	0.0:0.1353:0.8647:0.0	.	307;307	O14917-2;O14917	.;PCD17_HUMAN	D	307	ENSP00000367151:G307D	.	G	+	2	0	PCDH17	57105601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.693000	0.74582	2.640000	0.89533	0.650000	0.86243	GGC	.	.	none		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58207600	G	A	58207600	3	1	15	1	0	0	0	0	1	0	0	0	11512	1203	42	2	922	2	PCDH17	13	58207600	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	5861618	58207600	56962278	221	3841										
RNF219	79596	hgsc.bcm.edu	37	chr13	79219011	79219011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccttacctataatttctttgCaaggattttcaggagtgatg	8	7	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:79219011C>G	ENST00000282003.6	-	2	252	c.194G>C	c.(193-195)tGc>tCc	p.C65S		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	65							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTCTTTGCAAGGATTTTC	0.353																																					p.C65S		Atlas-SNP	.											.	RNF219	94	.	0			c.G194C						PASS	.						109	111	110					13																	79219011		2203	4300	6503	SO:0001583	missense	79596	exon2			TCTTTGCAAGGAT	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.194G>C	13.37:g.79219011C>G	ENSP00000282003:p.Cys65Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	66	19	0.287879	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477267	0.84640	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70197	-0.4938	9	0.59425	D	0.04	-5.6669	19.0489	0.93034	0.0:1.0:0.0:0.0	.	65	Q5W0B1	RN219_HUMAN	S	65	.	ENSP00000282003:C65S	C	-	2	0	RNF219	78117012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.489000	0.83994	0.655000	0.94253	TGC	.	.	none		0.353	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		G	79219011	C	G	79219011	3	3	15	1	0	0	0	0	1	0	0	0	13482	710	25	4	2006	4	RNF219	13	79219011	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	21011411	79219011	35950867	222	3842										
SLITRK5	26050	hgsc.bcm.edu	37	chr13	88329368	88329368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtgacattgtgggcatgaaGctgtgggtggagcagctcaa	16	6	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:88329368G>A	ENST00000325089.6	+	2	1944	c.1725G>A	c.(1723-1725)aaG>aaA	p.K575K	SLITRK5_ENST00000400028.3_Silent_p.K334K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	575	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGCATGAAGCTGTGGGTGG	0.527																																					p.K575K		Atlas-SNP	.											SLITRK5,NS,carcinoma,+1,1	SLITRK5	192	1	0			c.G1725A						scavenged	.						152	139	143					13																	88329368		2203	4300	6503	SO:0001819	synonymous_variant	26050	exon2			CATGAAGCTGTGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1725G>A	13.37:g.88329368G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_015567	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																			.	.	none		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			A	88329368	G	A	88329368	2	1	15	1	0	0	0	0	0	0	0	1	14746	962	34	2		2	SLITRK5	13	88329368	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	9110357	88329368	26840510	223	3843										
TMTC4	84899	hgsc.bcm.edu	37	chr13	101287349	101287349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acagtacccaacgctggggaGgtagaggacacgctctgcga	14	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr13:101287349G>A	ENST00000376234.3	-	10	1435	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.L305F|TMTC4_ENST00000342624.5_Missense_Mutation_p.L435F	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	416						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGCTGGGGAGGTAGAGGACA	0.537																																					p.L435F		Atlas-SNP	.											.	TMTC4	103	.	0			c.C1303T						PASS	.						77	71	73					13																	101287349		2203	4300	6503	SO:0001583	missense	84899	exon11			TGGGGAGGTAGAG		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1246C>T	13.37:g.101287349G>A	ENSP00000365408:p.Leu416Phe	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	108	37	0.342593	NM_032813	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015661	0.54468	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69175	-0.38;-0.38;-0.38	5.5	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.83692	2.655	0.58432	D	0.999998	P;D;D;D	0.89917	0.908;0.999;0.999;1.0	P;D;D;D	0.78314	0.692;0.991;0.98;0.991	D	0.83482	0.0065	10	0.72032	D	0.01	.	11.3755	0.49726	0.1445:0.0:0.8555:0.0	.	305;416;416;435	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	F	416;435;305	ENSP00000365408:L416F;ENSP00000343871:L435F;ENSP00000365409:L305F	ENSP00000365409:L305F	L	-	1	0	TMTC4	100085350	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	3.246000	0.51414	1.332000	0.45431	-0.251000	0.11542	CTC	.	.	none		0.537	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		A	101287349	G	A	101287349	3	1	15	1	0	0	0	0	1	0	0	0	16260	1000	35	2	1015	2	TMTC4	13	101287349	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	12957981	101287349	13882529	224	3844										
C14orf126	112487	hgsc.bcm.edu	37	chr14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgcccgggcctgaggaatccGgctaccctcagccatggctt	12	16	1	1	rs17097904	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W|DTD2_ENST00000356180.4_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																					p.R6W		Atlas-SNP	.											C14orf126,third_ventricle,glioma,0,2	.	.	2	1	Substitution - Missense(1)	skin(1)	c.C16T						scavenged	.						12	12	12					14																	31926584		2183	4278	6461	SO:0001583	missense	112487	exon1			GAATCCGGCTACC	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp	Somatic	71	3	0.0422535		WXS	Illumina HiSeq	Phase_I	116	12	0.103448	NM_080664	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG	.	.	weak		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31926584	G	A	31926584	3	1	15	1	0	0	0	0	1	0	0	0	1743	1115	39	1	502	1	C14orf126	14	31926584	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10		31926584	75422956	225	3845										
ARHGAP5	394	hgsc.bcm.edu	37	chr14	32560563	32560563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttgtagtggaaacatcagcaCgatttaatgtcaacattgaa	8	6	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:32560563C>T	ENST00000345122.3	+	2	1003	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.R230*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.R230*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.R230*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	230					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)	p.R230*(1)		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)		AACATCAGCACGATTTAATGT	0.348																																					p.R230X	NSCLC(9;77 350 3443 29227 41353)	Atlas-SNP	.											ARHGAP5,colon,NS,0,1	ARHGAP5	166	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C688T						scavenged	.						91	97	95					14																	32560563		2202	4300	6502	SO:0001587	stop_gained	394	exon2			TCAGCACGATTTA	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.688C>T	14.37:g.32560563C>T	ENSP00000371897:p.Arg230*	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	200	3	0.015	NM_001173	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189990	0.94923	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.78	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1227	0.65201	0.2214:0.7786:0.0:0.0	.	.	.	.	X	230	.	ENSP00000371897:R230X	R	+	1	2	ARHGAP5	31630314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.232000	0.51302	2.717000	0.92951	0.655000	0.94253	CGA	.	.	none		0.348	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32560563	C	T	32560563	4	4	15	1	0	0	0	0	0	1	0	0	886	528	19	1	690	1	ARHGAP5	14	32560563	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	633979	32560563	74788977	226	3846										
NFKBIA	4792	hgsc.bcm.edu	37	chr14	35871695	35871695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaggttttctagtgtcagctGgcccagctgctgctgtatcc	11	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:35871695G>A	ENST00000216797.5	-	5	912	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Nonsense_Mutation_p.Q181*|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.Q228*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	271					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	AGTGTCAGCTGGCCCAGCTGC	0.562																																					p.Q271X		Atlas-SNP	.											.	NFKBIA	28	.	0			c.C811T						PASS	.						88	91	90					14																	35871695		2203	4300	6503	SO:0001587	stop_gained	4792	exon5			TCAGCTGGCCCAG		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.811C>T	14.37:g.35871695G>A	ENSP00000216797:p.Gln271*	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	180	46	0.255556	NM_020529	B2R8L6	Nonsense_Mutation	SNP	ENST00000216797.5	37	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	G	38	7.053020	0.98029	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.2413	15.4515	0.75277	0.0:0.1382:0.8618:0.0	.	.	.	.	X	271;228;181	.	ENSP00000216797:Q271X	Q	-	1	0	NFKBIA	34941446	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.992000	0.40737	2.719000	0.93026	0.655000	0.94253	CAG	.	.	none		0.562	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		A	35871695	G	A	35871695	4	1	15	1	0	0	0	0	0	1	0	0	10377	1357	47	2	150	2	NFKBIA	14	35871695	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3311132	35871695	71477845	227	3847										
C14orf149	112849	hgsc.bcm.edu	37	chr14	59950587	59950587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggtccgtggctgcggccgtCctcgcatgccacgaaggcgg	16	15	0	0	rs548137663		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:59950587C>T	ENST00000247194.4	-	1	561	c.448G>A	c.(448-450)Gac>Aac	p.D150N	L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000425728.2_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	150					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CTGCGGCCGTCCTCGCATGCC	0.711											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		14809	0.001		0.0	False		,,,				2504	0.0				p.D150N		Atlas-SNP	.											.	.	.	.	0			c.G448A						PASS	.						6	7	7					14																	59950587		2110	4104	6214	SO:0001583	missense	112849	exon1			GGCCGTCCTCGCA	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.448G>A	14.37:g.59950587C>T	ENSP00000247194:p.Asp150Asn	Somatic	9	0	0	1042	WXS	Illumina HiSeq	Phase_I	16	8	0.5	NM_144581	Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216802	0.39201	.	.	ENSG00000126790	ENST00000247194	T	0.17370	2.28	5.58	3.77	0.43336	.	0.421261	0.27227	N	0.020326	T	0.12178	0.0296	L	0.28458	0.855	0.58432	D	0.999993	B;B	0.16166	0.016;0.001	B;B	0.18263	0.021;0.003	T	0.09443	-1.0674	10	0.15952	T	0.53	.	11.8035	0.52141	0.0:0.8581:0.0:0.1419	.	150;150	B4DGY8;Q96EM0	.;PRCM_HUMAN	N	150	ENSP00000247194:D150N	ENSP00000247194:D150N	D	-	1	0	C14orf149	59020340	0.816000	0.29132	0.851000	0.33527	0.692000	0.40212	1.630000	0.37081	0.726000	0.32339	0.561000	0.74099	GAC	.	.	none		0.711	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		T	59950587	C	T	59950587	3	4	15	1	0	0	0	0	1	0	0	0	1752	855	30	2	636	2	C14orf149	14	59950587	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	24078892	59950587	47398953	228	3848										
C14orf50	145376	hgsc.bcm.edu	37	chr14	65053990	65053990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagagattgaagaagaagtaGggagactctttcgtaccaat	11	6	1	5			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:65053990G>A	ENST00000298705.1	+	10	886	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	264					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGAAGAAGTAGGGAGACTCTT	0.413																																					p.G264R		Atlas-SNP	.											.	.	.	.	0			c.G790A						PASS	.						153	144	147					14																	65053990		2203	4300	6503	SO:0001583	missense	145376	exon10			GAAGTAGGGAGAC		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.790G>A	14.37:g.65053990G>A	ENSP00000298705:p.Gly264Arg	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	154	72	0.467532	NM_172365	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356036	0.82243	.	.	ENSG00000165807	ENST00000298705	T	0.30981	1.51	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.57359	0.2048	M	0.79475	2.455	0.43708	D	0.996177	D	0.89917	1.0	D	0.97110	1.0	T	0.61083	-0.7134	10	0.87932	D	0	-21.7724	15.0284	0.71687	0.0:0.0:1.0:0.0	.	264	Q96LQ0	PPR36_HUMAN	R	264	ENSP00000298705:G264R	ENSP00000298705:G264R	G	+	1	0	C14orf50	64123743	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.068000	0.64364	2.596000	0.87737	0.655000	0.94253	GGG	.	.	none		0.413	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		A	65053990	G	A	65053990	3	1	15	1	0	0	0	0	1	0	0	0	1777	1000	35	2	828	2	C14orf50	14	65053990	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	5103403	65053990	42295550	229	3849										
GPR65	8477	hgsc.bcm.edu	37	chr14	88477518	88477518	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcattcctcacctgcattgcCgttgatcggtatttggctgt	10	11	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:88477518C>A	ENST00000267549.3	+	2	885	c.327C>A	c.(325-327)gcC>gcA	p.A109A	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	109					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CCTGCATTGCCGTTGATCGGT	0.428																																					p.A109A		Atlas-SNP	.											GPR65,brain,atypical_teratoid-rhabdoid_tumour,+1,1	GPR65	48	1	0			c.C327A						scavenged	.						212	202	205					14																	88477518		2203	4300	6503	SO:0001819	synonymous_variant	8477	exon2			CATTGCCGTTGAT	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.327C>A	14.37:g.88477518C>A		Somatic	51	1	0.0196078		WXS	Illumina HiSeq	Phase_I	61	2	0.0327869	NM_003608	O75819	Silent	SNP	ENST00000267549.3	37	CCDS9879.1																																																																																			.	.	none		0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88477518	C	A	88477518	2	1	15	1	0	0	0	0	0	0	0	1	6706	639	23	4		4	GPR65	14	88477518	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	23423528	88477518	18872022	230	3850										
TCL1A	8115	hgsc.bcm.edu	37	chr14	96180291	96180291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagctggctgtacctcgatgGttaagggcagccaggcgtgc	15	10	0	0	rs201228671	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:96180291G>A	ENST00000402399.1	-	1	242	c.113C>T	c.(112-114)aCc>aTc	p.T38I	TCL1A_ENST00000555202.1_Missense_Mutation_p.T38I|RP11-164H13.1_ENST00000556386.1_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.T38I|TCL1A_ENST00000556450.1_Missense_Mutation_p.T38I|RP11-164H13.1_ENST00000547644.2_RNA|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	38					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TACCTCGATGGTTAAGGGCAG	0.647			T	TRA@	T-CLL																																p.T38I	Ovarian(96;1068 2019 35393 39316)	Atlas-SNP	.		Dom	yes		14	14q32.1	8115	T-cell leukemia/lymphoma 1A		L	.	TCL1A	26	.	0			c.C113T						PASS	.						86	81	83					14																	96180291		2203	4300	6503	SO:0001583	missense	8115	exon1			TCGATGGTTAAGG	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.113C>T	14.37:g.96180291G>A	ENSP00000385036:p.Thr38Ile	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	61	32	0.52459	NM_001098725	Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	CCDS9941.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242016	0.22796	.	.	ENSG00000100721	ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	3.15	-2.77	0.05877	.	1.693040	0.03527	N	0.221932	T	0.20170	0.0485	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22487	-1.0215	10	0.31617	T	0.26	-11.297	7.6786	0.28500	0.4562:0.0:0.5438:0.0	.	38	P56279	TCL1A_HUMAN	I	38	ENSP00000451506:T38I;ENSP00000385036:T38I;ENSP00000450701:T38I;ENSP00000450496:T38I	ENSP00000385036:T38I	T	-	2	0	TCL1A	95250044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.190000	0.03058	-0.453000	0.07076	-1.090000	0.02178	ACC	G|0.999;C|0.001	.	alt		0.647	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			A	96180291	G	A	96180291	3	1	15	1	0	0	0	0	1	0	0	0	15701	1261	44	2	243	2	TCL1A	14	96180291	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	7702773	96180291	11169249	231	3851										
KIAA0284	283638	hgsc.bcm.edu	37	chr14	105354293	105354293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cccttcagcagggcccgctcAggcagtgcccgatacacctc	10	18	2	0	rs2582548	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:105354293A>G	ENST00000414716.3	+	12	3945	c.3717A>G	c.(3715-3717)tcA>tcG	p.S1239S	CEP170B_ENST00000418279.1_Silent_p.S1169S|CEP170B_ENST00000453495.1_Silent_p.S1240S|CEP170B_ENST00000556508.1_Silent_p.S1169S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1239						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1170S(1)|p.S1169S(1)|p.S1239S(1)									GGGCCCGCTCAGGCAGTGCCC	0.682													g|||	2823	0.563698	0.5454	0.6527	5008	,	,		15507	0.2272		0.7753	False		,,,				2504	0.6544				p.S1239S		Atlas-SNP	.											KIAA0284_ENST00000414716,NS,carcinoma,0,2	.	.	2	3	Substitution - coding silent(3)	prostate(3)	c.A3717G						PASS	.		,	2278,1490		703,872,309	4	5	4		3717,3507	-2	0.9	14	dbSNP_100	4	6255,1709		2492,1271,219	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	3195,2143,528	GG,GA,AA		21.4591,39.5435,27.2673	,	1239/1555,1169/1520	105354293	8533,3199	1884	3982	5866	SO:0001819	synonymous_variant	283638	exon12			CCGCTCAGGCAGT	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3717A>G	14.37:g.105354293A>G		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	11	6	0.545455	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																			A|0.444;G|0.556	0.556	strong		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		G	105354293	A	G	105354293	2	3	15	1	0	0	0	0	0	0	0	1	8166	175	7	3		3	KIAA0284	14	105354293	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	9174002	105354293	1995247	232	3852										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411852	105411852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgtacgacggcatcttgaaTttgggcattttgaacttgct	10	8	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr14:105411852T>C	ENST00000333244.5	-	7	10055	c.9936A>G	c.(9934-9936)aaA>aaG	p.K3312K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3312						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAATTTGGGCATTT	0.622																																					p.K3312K		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,1	AHNAK2	719	1	0			c.A9936G						scavenged	.						205	199	201					14																	105411852		2003	4164	6167	SO:0001819	synonymous_variant	113146	exon7			CTTGAATTTGGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9936A>G	14.37:g.105411852T>C		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	222	5	0.0225225	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411852	T	C	105411852	2	2	15	1	0	0	0	0	0	0	0	1	415	1490	52	2		2	AHNAK2	14	105411852	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	57559	105411852	1937688	233	3853										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25969147	25969147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgacttcttctcttgatacCgccatatccacagtccatgt	5	13	2	2	rs144743073	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:25969147C>T	ENST00000356865.6	-	6	1112	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	334					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCTTGATACCGCCATATCCA	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.0				p.R334Q		Atlas-SNP	.											.	ATP10A	270	.	0			c.G1001A						PASS	.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136	136	136		1001	2.4	0	15	dbSNP_134	136	0,8600		0,0,4300	no	missense	ATP10A	NM_024490.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	334/1500	25969147	1,13005	2203	4300	6503	SO:0001583	missense	57194	exon6			TGATACCGCCATA	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1001G>A	15.37:g.25969147C>T	ENSP00000349325:p.Arg334Gln	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	83	31	0.373494	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	4.862	0.160142	0.09287	2.27E-4	0.0	ENSG00000206190	ENST00000356865	T	0.45668	0.89	5.3	2.36	0.29203	ATPase, P-type, ATPase-associated domain (1);	0.118743	0.56097	D	0.000021	T	0.20129	0.0484	N	0.12637	0.245	0.35235	D	0.777281	B	0.21520	0.057	B	0.18561	0.022	T	0.14755	-1.0461	10	0.18710	T	0.47	-27.5818	7.1544	0.25628	0.0:0.5527:0.0:0.4473	.	334	O60312	AT10A_HUMAN	Q	334	ENSP00000349325:R334Q	ENSP00000349325:R334Q	R	-	2	0	ATP10A	23520240	1.000000	0.71417	0.035000	0.18076	0.036000	0.12997	4.520000	0.60524	0.748000	0.32831	-0.251000	0.11542	CGG	C|1.000;T|0.000	0.000	weak		0.358	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25969147	C	T	25969147	3	4	15	1	0	0	0	0	1	0	0	0	1116	652	23	1	3562	1	ATP10A	15	25969147	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		25969147	76562245	234	3854										
HERC2	8924	hgsc.bcm.edu	37	chr15	28483809	28483809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tttatatcatacaccttcccGtcaatcacagtccagaagcc	4	14	3	1	rs149204675	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:28483809G>A	ENST00000261609.7	-	24	3795	c.3687C>T	c.(3685-3687)gaC>gaT	p.D1229D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACACCTTCCCGTCAATCACAG	0.373													G|||	26	0.00519169	0.0129	0.0	5008	,	,		17942	0.0		0.004	False		,,,				2504	0.0051				p.D1229D		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C3687T						scavenged	.						73	68	70					15																	28483809		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon24			CTTCCCGTCAATC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3687C>T	15.37:g.28483809G>A		Somatic	385	3	0.00779221		WXS	Illumina HiSeq	Phase_I	346	5	0.0144509	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.998;A|0.002	0.002	strong		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28483809	G	A	28483809	2	1	15	1	0	0	0	0	0	0	0	1	7058	1136	40	1		1	HERC2	15	28483809	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	2514662	28483809	74047583	235	3855										
ARHGAP11A	9824	hgsc.bcm.edu	37	chr15	32926229	32926229	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaaattcaatctagggaaaaAtggcagagaagtagtaagtt	11	3	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:32926229A>T	ENST00000361627.3	+	10	2053	c.1331A>T	c.(1330-1332)aAt>aTt	p.N444I	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.N416I|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N255I|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.N444I|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N255I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	444					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTAGGGAAAAATGGCAGAGAA	0.353																																					p.N444I	Colon(45;757 1134 30003 36652)	Atlas-SNP	.											.	ARHGAP11A	84	.	0			c.A1331T						PASS	.						36	35	35					15																	32926229		2201	4300	6501	SO:0001583	missense	9824	exon10			GGAAAAATGGCAG	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1331A>T	15.37:g.32926229A>T	ENSP00000355090:p.Asn444Ile	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	237	48	0.202532	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	17.09	3.300482	0.60195	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10288	2.89	5.51	-3.26	0.05064	.	0.454459	0.22141	N	0.064049	T	0.15478	0.0373	L	0.44542	1.39	0.32060	N	0.595807	P;D	0.57571	0.901;0.98	B;P	0.54312	0.296;0.748	T	0.06844	-1.0804	10	0.87932	D	0	.	13.7577	0.62946	0.3388:0.0:0.6612:0.0	.	444;255	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	I	444;255	ENSP00000355090:N444I	ENSP00000355090:N444I	N	+	2	0	ARHGAP11A	30713521	1.000000	0.71417	0.899000	0.35326	0.825000	0.46686	1.904000	0.39868	-0.528000	0.06366	-0.290000	0.09829	AAT	.	.	none		0.353	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		T	32926229	A	T	32926229	3	4	15	1	0	0	0	0	1	0	0	0	863	101	4	5	1369	5	ARHGAP11A	15	32926229	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	4442420	32926229	69605163	236	3856										
AQR	9716	hgsc.bcm.edu	37	chr15	35174831	35174831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acttcgaagcaattcagaggCtctgaattcctatggaaacg	9	9	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:35174831C>T	ENST00000156471.5	-	27	3262	c.3037G>A	c.(3037-3039)Gcc>Acc	p.A1013T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1013					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AATTCAGAGGCTCTGAATTCC	0.383																																					p.A1013T		Atlas-SNP	.											AQR,NS,lymphoid_neoplasm,+1,1	AQR	139	1	0			c.G3037A						scavenged	.						91	86	88					15																	35174831		1831	4087	5918	SO:0001583	missense	9716	exon27			CAGAGGCTCTGAA	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3037G>A	15.37:g.35174831C>T	ENSP00000156471:p.Ala1013Thr	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	104	3	0.0288462	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382090	0.95967	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82711	-1.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92560	0.6057	10	0.54805	T	0.06	-13.183	19.9019	0.96988	0.0:1.0:0.0:0.0	.	1013	O60306	AQR_HUMAN	T	1013	ENSP00000156471:A1013T	ENSP00000156471:A1013T	A	-	1	0	AQR	32962123	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.818000	0.86416	2.698000	0.92095	0.591000	0.81541	GCC	.	.	none		0.383	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35174831	C	T	35174831	3	4	15	1	0	0	0	0	1	0	0	0	835	797	28	2	1456	2	AQR	15	35174831	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2248602	35174831	67356561	237	3857										
LTK	4058	hgsc.bcm.edu	37	chr15	41801258	41801258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gctgcaggaagagctcgctgCtggggtgtatgaaggatact	16	7	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:41801258C>T	ENST00000263800.6	-	8	1163	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	LTK_ENST00000355166.5_Missense_Mutation_p.S295N|LTK_ENST00000561619.1_Missense_Mutation_p.S38N|LTK_ENST00000453182.2_Missense_Mutation_p.S295N	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	356					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAGCTCGCTGCTGGGGTGTAT	0.592										TSP Lung(18;0.14)																											p.S356N		Atlas-SNP	.											LTK_ENST00000263800,NS,carcinoma,0,2	LTK	117	2	0			c.G1067A						scavenged	.						93	90	91					15																	41801258		2203	4300	6503	SO:0001583	missense	4058	exon8			TCGCTGCTGGGGT	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1067G>A	15.37:g.41801258C>T	ENSP00000263800:p.Ser356Asn	Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	161	4	0.0248447	NM_002344	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834726	0.16820	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.77229	-1.08;0.93;-1.02	5.33	2.32	0.28847	.	0.190959	0.25472	U	0.030428	T	0.65365	0.2684	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.20887	0.008;0.001;0.049;0.019	B;B;B;B	0.19666	0.003;0.001;0.021;0.026	T	0.47548	-0.9109	10	0.17832	T	0.49	.	1.6514	0.02773	0.2786:0.4202:0.1358:0.1654	.	295;295;295;356	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	N	356;295;356;295	ENSP00000347293:S295N;ENSP00000263800:S356N;ENSP00000392196:S295N	ENSP00000263800:S356N	S	-	2	0	LTK	39588550	0.000000	0.05858	0.020000	0.16555	0.983000	0.72400	0.212000	0.17497	0.194000	0.20326	0.491000	0.48974	AGC	.	.	none		0.592	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			T	41801258	C	T	41801258	3	4	15	1	0	0	0	0	1	0	0	0	9080	797	28	2	1579	2	LTK	15	41801258	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	6626427	41801258	60730134	238	3858										
B2M	567	hgsc.bcm.edu	37	chr15	45003779	45003779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggccttagctgtgctcgcgcTactctctctttctggcctgg	11	14	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:45003779T>C	ENST00000558401.1	+	1	105	c.35T>C	c.(34-36)cTa>cCa	p.L12P	B2M_ENST00000544417.1_Missense_Mutation_p.L12P|B2M_ENST00000559916.1_Missense_Mutation_p.L12P|PATL2_ENST00000558573.1_5'Flank	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	12					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.A11fs*42(1)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTGCTCGCGCTACTCTCTCTT	0.617																																					p.L12P		Atlas-SNP	.											B2M,colon,carcinoma,0,2	B2M	99	2	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	c.T35C						PASS	.						132	94	107					15																	45003779		2198	4298	6496	SO:0001583	missense	567	exon1			TCGCGCTACTCTC	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.35T>C	15.37:g.45003779T>C	ENSP00000452780:p.Leu12Pro	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	99	76	0.767677	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443926	0.63067	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01388	4.95	5.35	5.35	0.76521	.	9.011740	0.00721	U	0.000881	T	0.10809	0.0264	M	0.74647	2.275	0.29321	N	0.867335	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.17107	-1.0380	10	0.87932	D	0	.	11.9001	0.52678	0.0:0.0:0.0:1.0	.	12;12;12	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	P	12	ENSP00000437604:L12P	ENSP00000340858:L12P	L	+	2	0	B2M	42791071	0.253000	0.23982	0.051000	0.19133	0.007000	0.05969	3.556000	0.53734	2.371000	0.80710	0.533000	0.62120	CTA	.	.	none		0.617	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		C	45003779	T	C	45003779	3	2	15	1	0	0	0	0	1	0	0	0	1244	1522	53	3	37	3	B2M	15	45003779	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	3202521	45003779	57527613	239	3859										
TLN2	83660	hgsc.bcm.edu	37	chr15	63017221	63017221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aatcgattcagctctgaataCggtgcagacgcttaagaatg	10	8	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:63017221C>T	ENST00000561311.1	+	26	3403	c.3173C>T	c.(3172-3174)aCg>aTg	p.T1058M	TLN2_ENST00000306829.6_Missense_Mutation_p.T1058M			Q9Y4G6	TLN2_HUMAN	talin 2	1058	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTCTGAATACGGTGCAGACG	0.527																																					p.T1058M		Atlas-SNP	.											.	TLN2	253	.	0			c.C3173T						PASS	.						72	68	69					15																	63017221		2203	4300	6503	SO:0001583	missense	83660	exon24			TGAATACGGTGCA	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3173C>T	15.37:g.63017221C>T	ENSP00000453508:p.Thr1058Met	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	37	31	0.837838	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501273	0.26861	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	5.54	5.54	0.83059	.	0.136037	0.64402	D	0.000002	T	0.54208	0.1844	N	0.17082	0.46	0.39663	D	0.970632	B	0.22746	0.074	B	0.14578	0.011	T	0.50285	-0.8846	10	0.40728	T	0.16	-16.3734	19.8379	0.96666	0.0:1.0:0.0:0.0	.	1058	Q9Y4G6	TLN2_HUMAN	M	1058	ENSP00000303476:T1058M	ENSP00000303476:T1058M	T	+	2	0	TLN2	60804513	0.998000	0.40836	0.927000	0.36925	0.015000	0.08874	4.850000	0.62889	2.765000	0.95021	0.655000	0.94253	ACG	.	.	none		0.527	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63017221	C	T	63017221	3	4	15	1	0	0	0	0	1	0	0	0	15945	536	19	1	3267	1	TLN2	15	63017221	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	18013442	63017221	39514171	240	3860										
C15orf60	283677	hgsc.bcm.edu	37	chr15	73852122	73852122	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcatcggaggagctgccccaTgtctatgaacaatctgcatg	11	11	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:73852122T>C	ENST00000331090.6	+	6	694	c.666T>C	c.(664-666)caT>caC	p.H222H	C15orf60_ENST00000560581.1_Silent_p.H194H	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		222					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						AGCTGCCCCATGTCTATGAAC	0.468																																					p.H222H		Atlas-SNP	.											C15orf60,right_upper_lobe,carcinoma,+2,1	C15orf60	26	1	0			c.T666C						scavenged	.						84	83	83					15																	73852122		1854	4084	5938	SO:0001819	synonymous_variant	283677	exon6			GCCCCATGTCTAT																												ENST00000331090.6:c.666T>C	15.37:g.73852122T>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	120	3	0.025	NM_001042367		Silent	SNP	ENST00000331090.6	37	CCDS45296.1																																																																																			.	.	none		0.468	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			C	73852122	T	C	73852122	2	2	15	1	0	0	0	0	0	0	0	1	1808	1461	51	2		2	C15orf60	15	73852122	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	10834901	73852122	28679270	241	3861										
CPLX3	594855	hgsc.bcm.edu	37	chr15	75119053	75119053	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccggcgaagaccatggcgttCatggtgaagaccatggtggg	16	9	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:75119053C>A	ENST00000395018.4	+	1	166	c.9C>A	c.(7-9)ttC>ttA	p.F3L	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	3					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						CCATGGCGTTCATGGTGAAGA	0.672																																					p.F3L		Atlas-SNP	.											.	CPLX3	12	.	0			c.C9A						PASS	.						36	40	39					15																	75119053		2197	4295	6492	SO:0001583	missense	594855	exon1			GGCGTTCATGGTG	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.9C>A	15.37:g.75119053C>A	ENSP00000378464:p.Phe3Leu	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	55	45	0.818182	NM_001030005	D3DW66|Q8TEM6|Q9H818	Missense_Mutation	SNP	ENST00000395018.4	37	CCDS32294.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225855	0.79576	.	.	ENSG00000213578	ENST00000395018	.	.	.	4.3	3.38	0.38709	.	0.000000	0.64402	U	0.000001	T	0.75057	0.3798	M	0.71036	2.16	0.41174	D	0.986185	D	0.57257	0.979	D	0.71414	0.973	T	0.75227	-0.3392	9	0.66056	D	0.02	-10.3249	10.8632	0.46839	0.0:0.8306:0.0:0.1694	.	3	Q8WVH0	CPLX3_HUMAN	L	3	.	ENSP00000378464:F3L	F	+	3	2	CPLX3	72906106	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.306000	0.33505	0.461000	0.27071	-1.164000	0.01763	TTC	.	.	none		0.672	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		A	75119053	C	A	75119053	3	1	15	1	0	0	0	0	1	0	0	0	3806	825	29	4	11	4	CPLX3	15	75119053	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1266931	75119053	27412339	242	3862										
KIAA1199	57214	hgsc.bcm.edu	37	chr15	81201536	81201536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccgattcacttccacctggcCggtgatgtagacgaaagggg	13	11	1	2	rs547252245		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr15:81201536C>T	ENST00000394685.3	+	14	2105	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A	KIAA1199_ENST00000356249.5_Silent_p.A562A|RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Silent_p.A562A			Q8WUJ3	CEMIP_HUMAN		562	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.			HFHLAGD -> TRPPTRP (in Ref. 6; CAB94391). {ECO:0000305}.	hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.A562A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCACCTGGCCGGTGATGTAG	0.547													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20278	0.0		0.0	False		,,,				2504	0.0				p.A562A		Atlas-SNP	.											KIAA1199,NS,lymphoid_neoplasm,0,1	KIAA1199	118	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1686T						scavenged	.						158	113	129					15																	81201536		2203	4300	6503	SO:0001819	synonymous_variant	57214	exon13			CCTGGCCGGTGAT																												ENST00000394685.3:c.1686C>T	15.37:g.81201536C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	187	2	0.0106952	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.	.	none		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81201536	C	T	81201536	2	4	15	1	0	0	0	0	0	0	0	1	8213	639	23	1		1	KIAA1199	15	81201536	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	6082483	81201536	21329856	243	3863										
GP2	2813	hgsc.bcm.edu	37	chr16	20329589	20329589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gttcctcaacaccaggttaaAccgggaggtgtccccttgtt	10	12	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:20329589A>C	ENST00000381362.4	-	8	1256	c.1180T>G	c.(1180-1182)Ttt>Gtt	p.F394V	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.F391V|GP2_ENST00000381360.5_Missense_Mutation_p.F247V|GP2_ENST00000341642.5_Missense_Mutation_p.F244V	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCAGGTTAAACCGGGAGGTG	0.498																																					p.F394V		Atlas-SNP	.											.	GP2	122	.	0			c.T1180G						PASS	.						203	164	178					16																	20329589		2203	4300	6503	SO:0001583	missense	2813	exon8			GGTTAAACCGGGA	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1180T>G	16.37:g.20329589A>C	ENSP00000370767:p.Phe394Val	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	184	37	0.201087	NM_001007240	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246113	0.59103	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.8	4.69	0.59074	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.91620	0.7352	M	0.90595	3.13	0.09310	N	0.999993	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.987;0.997;0.997;0.995	D	0.83676	0.0169	9	0.41790	T	0.15	-14.0034	10.2265	0.43229	0.9209:0.0:0.0791:0.0	.	244;372;391;394	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	V	391;394;247;244;372	ENSP00000304044:F391V;ENSP00000370767:F394V;ENSP00000370765:F247V;ENSP00000343861:F244V	ENSP00000304044:F391V	F	-	1	0	GP2	20237090	0.853000	0.29707	0.007000	0.13788	0.754000	0.42855	1.836000	0.39191	0.989000	0.38761	0.528000	0.53228	TTT	.	.	none		0.498	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		C	20329589	A	C	20329589	3	2	15	1	0	0	0	0	1	0	0	0	6582	43	2	5	453	5	GP2	16	20329589	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10		20329589	70025164	244	3864										
PRKCB	5579	hgsc.bcm.edu	37	chr16	24183630	24183630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggagtacgtgaatgggggcGacctcatgtatcacatccag	13	9	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:24183630G>A	ENST00000321728.7	+	11	1454	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	PRKCB_ENST00000303531.7_Missense_Mutation_p.D427N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAATGGGGGCGACCTCATGTA	0.527																																					p.D427N		Atlas-SNP	.											PRKCB_ENST00000321728,caecum,carcinoma,0,3	PRKCB	383	3	0			c.G1279A						scavenged	.						125	103	110					16																	24183630		2197	4300	6497	SO:0001583	missense	5579	exon11			GGGGGCGACCTCA	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1279G>A	16.37:g.24183630G>A	ENSP00000318315:p.Asp427Asn	Somatic	193	1	0.00518135		WXS	Illumina HiSeq	Phase_I	170	59	0.347059	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795660	0.90453	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.27402	1.67;1.67	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58521	-0.7622	10	0.87932	D	0	.	18.1787	0.89769	0.0:0.0:1.0:0.0	.	427;427	P05771-2;P05771	.;KPCB_HUMAN	N	427	ENSP00000318315:D427N;ENSP00000305355:D427N	ENSP00000305355:D427N	D	+	1	0	PRKCB	24091131	1.000000	0.71417	0.958000	0.39756	0.462000	0.32619	9.768000	0.98965	2.606000	0.88127	0.557000	0.71058	GAC	.	.	none		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24183630	G	A	24183630	3	1	15	1	0	0	0	0	1	0	0	0	12508	1058	37	1	1321	1	PRKCB	16	24183630	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3854041	24183630	66171123	245	3865										
VPS35	55737	hgsc.bcm.edu	37	chr16	46696260	46696260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agaagtttggatgcagcaagGgcacactgagtcctcagagg	14	8	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:46696260G>T	ENST00000299138.7	-	15	2020	c.1962C>A	c.(1960-1962)gcC>gcA	p.A654A	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	654					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATGCAGCAAGGGCACACTGAG	0.498																																					p.A654A		Atlas-SNP	.											VPS35,NS,carcinoma,-2,1	VPS35	49	1	0			c.C1962A						scavenged	.						101	88	93					16																	46696260		2203	4300	6503	SO:0001819	synonymous_variant	55737	exon15			AGCAAGGGCACAC	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1962C>A	16.37:g.46696260G>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_018206	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	CCDS10721.1																																																																																			.	.	none		0.498	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			T	46696260	G	T	46696260	2	4	15	1	0	0	0	0	0	0	0	1	17200	1219	43	4		4	VPS35	16	46696260	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	22512630	46696260	43658493	246	3866										
RPGRIP1L	23322	hgsc.bcm.edu	37	chr16	53730084	53730084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttttaattttatcctcctgcTtgcgggcatgctgtttaagt	8	8	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:53730084T>G	ENST00000379925.3	-	3	259	c.209A>C	c.(208-210)aAg>aCg	p.K70T	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.K70T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.K70T|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.K70T|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.K70T|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.K70T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	70					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCCTCCTGCTTGCGGGCATG	0.368																																					p.K70T		Atlas-SNP	.											.	RPGRIP1L	118	.	0			c.A209C						PASS	.						118	123	121					16																	53730084		2198	4300	6498	SO:0001583	missense	23322	exon3			TCCTGCTTGCGGG		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.209A>C	16.37:g.53730084T>G	ENSP00000369257:p.Lys70Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313073	0.81358	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.68765	-0.35;-0.35	5.73	5.73	0.89815	.	0.052346	0.64402	D	0.000001	T	0.78729	0.4329	L	0.58969	1.84	0.48236	D	0.999616	D;D;P;D	0.76494	0.991;0.991;0.5;0.999	P;P;B;D	0.70716	0.894;0.776;0.173;0.97	T	0.79308	-0.1857	10	0.51188	T	0.08	-19.9813	16.0142	0.80425	0.0:0.0:0.0:1.0	.	70;70;70;70	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	70	ENSP00000369257:K70T;ENSP00000262135:K70T	ENSP00000262135:K70T	K	-	2	0	RPGRIP1L	52287585	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.371000	0.73119	2.187000	0.69744	0.460000	0.39030	AAG	.	.	none		0.368	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53730084	T	G	53730084	3	3	15	1	0	0	0	0	1	0	0	0	13550	1609	56	5	3838	5	RPGRIP1L	16	53730084	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	7033824	53730084	36624669	247	3867										
CDH11	1009	hgsc.bcm.edu	37	chr16	65022114	65022114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tagtccgttgtgatttcaaaCgattccataccatctccatc	5	12	2	1	rs28216	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:65022114C>T	ENST00000268603.4	-	7	1560	c.945G>A	c.(943-945)tcG>tcA	p.S315S	CDH11_ENST00000394156.3_Silent_p.S315S|CDH11_ENST00000566827.1_Silent_p.S189S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATTTCAAACGATTCCATAC	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			C|||	1120	0.223642	0.0734	0.255	5008	,	,		19686	0.2054		0.4066	False		,,,				2504	0.2352				p.S315S		Atlas-SNP	.		Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	CDH11_ENST00000394156,NS,carcinoma,-1,2	CDH11	260	2	0			c.G945A						scavenged	.	C		530,3876	241.2+/-251.7	31,468,1704	368	309	329		945	5.7	1	16	dbSNP_76	329	3660,4940	527.1+/-381.1	774,2112,1414	no	coding-synonymous	CDH11	NM_001797.2		805,2580,3118	TT,TC,CC		42.5581,12.0291,32.2159		315/797	65022114	4190,8816	2203	4300	6503	SO:0001819	synonymous_variant	1009	exon7			TTCAAACGATTCC	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.945G>A	16.37:g.65022114C>T		Somatic	276	2	0.00724638		WXS	Illumina HiSeq	Phase_I	260	3	0.0115385	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																			C|0.715;T|0.285	0.285	strong		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		T	65022114	C	T	65022114	2	4	15	1	0	0	0	0	0	0	0	1	3097	523	19	1		1	CDH11	16	65022114	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	11292030	65022114	25332639	248	3868										
ZFHX3	463	hgsc.bcm.edu	37	chr16	72830766	72830766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggtggcgttccctctggcatCtgaagcaatgcgtggaggga	16	9	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:72830766C>T	ENST00000268489.5	-	9	6487	c.5815G>A	c.(5815-5817)Gat>Aat	p.D1939N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1025N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1939					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTCTGGCATCTGAAGCAATG	0.517																																					p.D1939N		Atlas-SNP	.											ZFHX3,NS,carcinoma,0,1	ZFHX3	404	1	0			c.G5815A						PASS	.						97	96	97					16																	72830766		2198	4300	6498	SO:0001583	missense	463	exon9			TGGCATCTGAAGC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5815G>A	16.37:g.72830766C>T	ENSP00000268489:p.Asp1939Asn	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	130	49	0.376923	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416295	0.62511	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74632	-0.86;-0.85	5.73	5.73	0.89815	.	0.000000	0.49916	D	0.000137	T	0.78323	0.4265	L	0.39898	1.24	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.72701	-0.4214	10	0.21014	T	0.42	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	1939	Q15911	ZFHX3_HUMAN	N	1939;1025	ENSP00000268489:D1939N;ENSP00000438926:D1025N	ENSP00000268489:D1939N	D	-	1	0	ZFHX3	71388267	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.810000	0.86072	2.693000	0.91896	0.655000	0.94253	GAT	.	.	none		0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72830766	C	T	72830766	3	4	15	1	0	0	0	0	1	0	0	0	17631	913	32	2	5304	2	ZFHX3	16	72830766	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	7808652	72830766	17523987	249	3869										
CLEC18B	497190	hgsc.bcm.edu	37	chr16	74451961	74451961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctgcagcacactcacctgcGtgtagtgggtgcaggtggcg	15	12	1	0	rs151079980	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:74451961G>A	ENST00000339953.5	-	3	573	c.452C>T	c.(451-453)aCg>aTg	p.T151M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	151	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T151K(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTCACCTGCGTGTAGTGGGT	0.592																																					p.T151M		Atlas-SNP	.											CLEC18B,NS,carcinoma,0,4	CLEC18B	45	4	1	Substitution - Missense(1)	lung(1)	c.C452T						scavenged	.						9	10	9					16																	74451961		1775	3623	5398	SO:0001583	missense	497190	exon3			ACCTGCGTGTAGT	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.452C>T	16.37:g.74451961G>A	ENSP00000341051:p.Thr151Met	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	118	6	0.0508475	NM_001011880	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	91	0.041666666666666664	5	0.01016260162601626	17	0.04696132596685083	20	0.03496503496503497	49	0.06464379947229551	g	16.79	3.221692	0.58560	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.16073	2.37	3.57	3.57	0.40892	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	H	0.95982	3.75	0.46113	D	0.998879	D;D	0.89917	0.999;1.0	D;D	0.66716	0.943;0.946	T	0.45920	-0.9228	10	0.66056	D	0.02	.	10.55	0.45083	0.0:0.0:1.0:0.0	.	151;151	C9JSV1;Q6UXF7	.;CL18B_HUMAN	M	151	ENSP00000341051:T151M	ENSP00000268492:T151M	T	-	2	0	CLEC18B	73009462	1.000000	0.71417	0.986000	0.45419	0.699000	0.40488	5.199000	0.65152	1.821000	0.53095	0.531000	0.56144	ACG	G|0.968;A|0.032	0.032	strong		0.592	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		A	74451961	G	A	74451961	3	1	15	1	0	0	0	0	1	0	0	0	3503	1145	40	1	959	1	CLEC18B	16	74451961	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1621195	74451961	15902792	250	3870										
CNTNAP4	85445	hgsc.bcm.edu	37	chr16	76555939	76555939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgtgtaatatttccagctcCgacagtagtgactttttcat	7	8	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:76555939C>T	ENST00000476707.1	+	16	2688	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P846L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P774L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P798L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	847	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTCCAGCTCCGACAGTAGTG	0.458																																					p.P774L		Atlas-SNP	.											CNTNAP4_ENST00000478060,NS,carcinoma,0,2	CNTNAP4	600	2	0			c.C2321T						scavenged	.						172	168	169					16																	76555939		1951	4163	6114	SO:0001583	missense	85445	exon16			CAGCTCCGACAGT	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2549C>T	16.37:g.76555939C>T	ENSP00000417628:p.Pro850Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360903	0.61403	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.41097	D	0.000946	D	0.88819	0.6540	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.984;1.0	D	0.90109	0.4190	9	0.87932	D	0	.	18.5518	0.91068	0.0:1.0:0.0:0.0	.	774;850;847	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	L	846;798;774;850	ENSP00000306893:P846L;ENSP00000439733:P798L;ENSP00000418741:P774L;ENSP00000417628:P850L	ENSP00000306893:P846L	P	+	2	0	CNTNAP4	75113440	1.000000	0.71417	0.956000	0.39512	0.053000	0.15095	7.559000	0.82265	2.678000	0.91216	0.655000	0.94253	CCG	.	.	none		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		T	76555939	C	T	76555939	3	4	15	1	0	0	0	0	1	0	0	0	3649	652	23	1	2619	1	CNTNAP4	16	76555939	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2103978	76555939	13798814	251	3871										
CDH13	1012	hgsc.bcm.edu	37	chr16	83813610	83813610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcactgggactttgctgatAaccctggaggacgtgaatga	14	8	0	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr16:83813610A>G	ENST00000566620.1	+	12	2009	c.1719A>G	c.(1717-1719)atA>atG	p.I573M	CDH13_ENST00000428848.3_Missense_Mutation_p.I534M|CDH13_ENST00000268613.10_Missense_Mutation_p.I620M	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	573	Cadherin 4. {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)		CTTTGCTGATAACCCTGGAGG	0.488																																					p.I620M		Atlas-SNP	.											.	CDH13	97	.	0			c.A1860G						PASS	.						92	86	88					16																	83813610		1936	4181	6117	SO:0001583	missense	1012	exon13			GCTGATAACCCTG	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.1719A>G	16.37:g.83813610A>G	ENSP00000454435:p.Ile573Met	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	80	17	0.2125	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681211	0.47886	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.61040	0.14	5.52	-11.0	0.00169	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.73690	0.3619	M	0.92077	3.27	0.80722	D	1	D;D;D	0.58970	0.971;0.971;0.984	P;P;P	0.62435	0.868;0.902;0.813	D	0.88936	0.3376	9	0.87932	D	0	.	14.1687	0.65495	0.1048:0.6952:0.0618:0.1382	.	534;620;573	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	M	620;573;534;275;132;263	ENSP00000268613:I620M	ENSP00000268613:I620M	I	+	3	3	CDH13	82371111	0.000000	0.05858	0.159000	0.22649	0.522000	0.34438	-2.440000	0.01016	-3.003000	0.00275	-1.236000	0.01555	ATA	.	.	none		0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	83813610	A	G	83813610	3	3	15	1	0	0	0	0	1	0	0	0	3099	352	13	2	1765	2	CDH13	16	83813610	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	7257671	83813610	6541143	252	3872										
ALOX15	246	hgsc.bcm.edu	37	chr17	4544856	4544856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttcccgagcgccgcctcccCgtgctggccgaccagccaca	10	21	0	0	rs145573801	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:4544856C>T	ENST00000570836.1	-	2	187	c.91G>A	c.(91-93)Ggg>Agg	p.G31R	ALOX15_ENST00000574640.1_Missense_Mutation_p.G31R|ALOX15_ENST00000545513.1_Missense_Mutation_p.G53R|ALOX15_ENST00000293761.3_Missense_Mutation_p.G31R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	31	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCCGCCTCCCCGTGCTGGCCG	0.687																																					p.G31R		Atlas-SNP	.											.	ALOX15	70	.	0			c.G91A						PASS	.						23	23	23					17																	4544856		2194	4291	6485	SO:0001583	missense	246	exon1			CCTCCCCGTGCTG	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.91G>A	17.37:g.4544856C>T	ENSP00000458832:p.Gly31Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	95	5	0.0526316	NM_001140	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133041	0.77662	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.73047	-0.71;-0.71	5.33	2.14	0.27477	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.071907	0.53938	D	0.000048	T	0.69486	0.3116	L	0.60904	1.88	0.37169	D	0.902979	D;P;D	0.60160	0.987;0.792;0.972	B;B;P	0.47206	0.406;0.176;0.541	T	0.72858	-0.4165	10	0.42905	T	0.14	-18.9916	13.5218	0.61572	0.0:0.5739:0.4261:0.0	.	53;31;31	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	R	31;53	ENSP00000293761:G31R;ENSP00000439855:G53R	ENSP00000293761:G31R	G	-	1	0	ALOX15	4491605	0.682000	0.27624	0.783000	0.31826	0.940000	0.58332	0.928000	0.28831	0.218000	0.20820	0.655000	0.94253	GGG	C|1.000;G|0.000	.	alt		0.687	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			T	4544856	C	T	4544856	3	4	15	1	0	0	0	0	1	0	0	0	538	652	23	1	1953	1	ALOX15	17	4544856	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		4544856	76650354	253	3873										
PITPNM3	83394	hgsc.bcm.edu	37	chr17	6358850	6358850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgcaggaactctggctgcgcGtgcagcccgaagctgccctt	13	15	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:6358850G>A	ENST00000262483.8	-	20	2820	c.2733C>T	c.(2731-2733)caC>caT	p.H911H	PITPNM3_ENST00000421306.3_Silent_p.H875H|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	911					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGGCTGCGCGTGCAGCCCGA	0.697																																					p.H911H		Atlas-SNP	.											.	PITPNM3	91	.	0			c.C2733T						PASS	.						23	27	26					17																	6358850		2195	4299	6494	SO:0001819	synonymous_variant	83394	exon20			CTGCGCGTGCAGC	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2733C>T	17.37:g.6358850G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																			.	.	none		0.697	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6358850	G	A	6358850	2	1	15	1	0	0	0	0	0	0	0	1	11952	1136	40	1		1	PITPNM3	17	6358850	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1813994	6358850	74836360	254	3874										
CDRT1	374286	hgsc.bcm.edu	37	chr17	15519066	15519066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agacttgtgaggtcgcagacTtggagctgtggtctttctca	13	8	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:15519066T>G	ENST00000395906.3	-	2	562	c.563A>C	c.(562-564)aAg>aCg	p.K188T	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.K498T	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	188										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGTCGCAGACTTGGAGCTGTG	0.483																																					p.K188T		Atlas-SNP	.											.	CDRT1	83	.	0			c.A563C						PASS	.						55	56	56					17																	15519066		2200	4278	6478	SO:0001583	missense	374286	exon2			GCAGACTTGGAGC	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.563A>C	17.37:g.15519066T>G	ENSP00000379242:p.Lys188Thr	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	231	18	0.0779221	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.808|4.808	0.150194|0.150194	0.09185|0.09185	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000261644;ENST00000395906|ENST00000455584	T|.	0.23950|.	1.88|.	3.68|3.68	-5.28|-5.28	0.02755|0.02755	.|.	0.556354|.	0.17795|.	N|.	0.161741|.	T|T	0.12008|0.12008	0.0292|0.0292	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.002|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.27082|.	T|.	0.32|.	.|.	7.1977|7.1977	0.25862|0.25862	0.2497:0.0:0.5367:0.2136|0.2497:0.0:0.5367:0.2136	.|.	188;512|.	O95170;Q59EB2|.	CDRT1_HUMAN;.|.	T|R	188|513	ENSP00000379242:K188T|.	ENSP00000261644:K188T|.	K|S	-|-	2|1	0|0	RP11-385D13.1|RP11-385D13.1	15459791|15459791	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.192000|0.192000	0.17096|0.17096	-1.167000|-1.167000	0.02779|0.02779	-0.501000|-0.501000	0.04562|0.04562	AAG|AGT	.	.	none		0.483	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		G	15519066	T	G	15519066	3	3	15	1	0	0	0	0	1	0	0	0	3174	1609	56	5	1739	5	CDRT1	17	15519066	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	9160216	15519066	65676144	255	3875										
TLCD1	116238	hgsc.bcm.edu	37	chr17	27052991	27052991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcaggttgtgccagcgccagGtgcgcagggggtcggcgcgc	20	12	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:27052991G>A	ENST00000292090.3	-	1	235	c.125C>T	c.(124-126)aCc>aTc	p.T42I	TLCD1_ENST00000394933.3_Intron|AC010761.14_ENST00000587898.1_RNA|SNORD4B_ENST00000459083.1_RNA|SNORD42A_ENST00000459584.1_RNA|NEK8_ENST00000268766.6_5'Flank	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	42	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CCAGCGCCAGGTGCGCAGGGG	0.697																																					p.T42I		Atlas-SNP	.											.	TLCD1	15	.	0			c.C125T						PASS	.						22	23	22					17																	27052991		2201	4298	6499	SO:0001583	missense	116238	exon1			CGCCAGGTGCGCA	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.125C>T	17.37:g.27052991G>A	ENSP00000292090:p.Thr42Ile	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	63	4	0.0634921	NM_138463	A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480642	0.84747	.	.	ENSG00000160606	ENST00000292090	.	.	.	4.6	4.6	0.57074	TRAM/LAG1/CLN8 homology domain (2);	0.205916	0.42821	D	0.000648	T	0.41465	0.1160	N	0.19112	0.55	0.80722	D	1	B	0.26744	0.158	B	0.20767	0.031	T	0.39035	-0.9633	9	0.49607	T	0.09	-2.0919	12.7767	0.57453	0.0:0.0:1.0:0.0	.	42	Q96CP7	TLCD1_HUMAN	I	42	.	ENSP00000292090:T42I	T	-	2	0	TLCD1	24077118	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.514000	0.45503	2.385000	0.81259	0.555000	0.69702	ACC	.	.	none		0.697	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		A	27052991	G	A	27052991	3	1	15	1	0	0	0	0	1	0	0	0	15934	1261	44	2	634	2	TLCD1	17	27052991	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	11533925	27052991	54142219	256	3876										
ATAD5	79915	hgsc.bcm.edu	37	chr17	29221631	29221635	+	Frame_Shift_Del	DEL	TCTCT	TCTCT	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaagtgtattttcgagtcgaTctcttctctatgtgggtaat							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	TCTCT	TCTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:29221631_29221635delTCTCT	ENST00000321990.4	+	22	5725_5729	c.5347_5351delTCTCT	c.(5347-5352)tctcttfs	p.SL1783fs	TEFM_ENST00000579183.1_5'Flank	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1783					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTCGAGTCGATCTCTTCTCTATGTG	0.341																																					p.1782_1784del		Pindel,Atlas-Indel	.											.	ATAD5	150	.	0			c.5346_5350del						PASS	.																																			SO:0001589	frameshift_variant	79915	exon22			.		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5347_5351delTCTCT	17.37:g.29221636_29221640delTCTCT	ENSP00000313171:p.Ser1783fs	Somatic	65	.	.		WXS	Illumina HiSeq	Phase_I	55	14	0.255	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	CCDS11260.1																																																																																			.	.	none		0.341	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		-	29221635	TCTCT	-	29221631	7	5	15	1	0	1	0	1	0	0	0	0	1076	1435	50	0	5433	0	ATAD5	17	29221631	Frame_Shift_Del	DEL	TCTCT	TCGA-FF-8061-01A-11D-2210-10	2168640	29221631	51973579	257	3877										
MYO1D	4642	hgsc.bcm.edu	37	chr17	30932257	30932257	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttggagacactcagaccagtCaactgcaaagagaaaatgca	9	9	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:30932257C>A	ENST00000318217.5	-	21	3016	c.2712G>T	c.(2710-2712)ttG>ttT	p.L904F	MYO1D_ENST00000394649.4_Missense_Mutation_p.L816F|MYO1D_ENST00000579584.1_Missense_Mutation_p.L904F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	904	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGACCAGTCAACTGCAAAG	0.418																																					p.L904F		Atlas-SNP	.											.	MYO1D	93	.	0			c.G2712T						PASS	.						92	81	85					17																	30932257		2203	4300	6503	SO:0001583	missense	4642	exon21			ACCAGTCAACTGC	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2712G>T	17.37:g.30932257C>A	ENSP00000324527:p.Leu904Phe	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	103	43	0.417476	NM_015194	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903118	0.33628	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.41400	1.0	4.94	3.92	0.45320	Myosin tail 2 (1);	0.000000	0.32503	U	0.006009	T	0.35537	0.0935	L	0.43923	1.385	0.80722	D	1	B;B	0.17852	0.014;0.024	B;B	0.19666	0.026;0.026	T	0.23511	-1.0186	10	0.87932	D	0	.	10.4809	0.44693	0.0:0.8966:0.0:0.1034	.	815;904	Q7Z3N6;O94832	.;MYO1D_HUMAN	F	904;96	ENSP00000324527:L904F	ENSP00000324527:L904F	L	-	3	2	MYO1D	27956370	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.952000	0.40343	1.124000	0.41980	-0.345000	0.07892	TTG	.	.	none		0.418	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			A	30932257	C	A	30932257	3	1	15	1	0	0	0	0	1	0	0	0	10071	825	29	4	316	4	MYO1D	17	30932257	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1710626	30932257	50262953	258	3878										
AMAC1	146861	hgsc.bcm.edu	37	chr17	33520470	33520470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccacaaccacctcggaatgtAggacagcgcacaccagggca	10	15	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:33520470A>G	ENST00000297307.5	-	1	942	c.857T>C	c.(856-858)cTa>cCa	p.L286P	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	286	EamA 2.					integral component of membrane (GO:0016021)											CTCGGAATGTAGGACAGCGCA	0.592																																					p.L286P		Atlas-SNP	.											AMAC1,NS,carcinoma,+1,1	.	.	1	0			c.T857C						scavenged	.						206	183	191					17																	33520470		2203	4300	6503	SO:0001583	missense	146861	exon1			GAATGTAGGACAG	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.857T>C	17.37:g.33520470A>G	ENSP00000297307:p.Leu286Pro	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	250	3	0.012	NM_152462	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	A	9.567	1.120069	0.20877	.	.	ENSG00000164729	ENST00000297307	T	0.54279	0.58	.	.	.	.	0.000000	0.35262	N	0.003328	T	0.47266	0.1436	N	0.19112	0.55	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.46205	-0.9208	9	0.34782	T	0.22	-3.1883	2.1364	0.03763	0.5014:2.0E-4:2.0E-4:0.4982	.	286	Q8N808	S35G3_HUMAN	P	286	ENSP00000297307:L286P	ENSP00000297307:L286P	L	-	2	0	SLC35G3	30544583	1.000000	0.71417	0.089000	0.20774	0.089000	0.18198	0.754000	0.26390	0.056000	0.16144	0.055000	0.15244	CTA	.	.	none		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		G	33520470	A	G	33520470	3	3	15	1	0	0	0	0	1	0	0	0	559	420	15	3	163	3	AMAC1	17	33520470	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2588213	33520470	47674740	259	3879										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	12	15	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V		Atlas-SNP	.											KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	23	1	1	Substitution - Missense(1)	NS(1)	c.A346G						scavenged	.						22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val	Somatic	71	3	0.0422535		WXS	Illumina HiSeq	Phase_I	120	7	0.0583333	NM_030967	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC	.	.	none		0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		C	39197304	T	C	39197304	3	2	15	1	0	0	0	0	1	0	0	0	8502	1406	49	2	191	2	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	5676834	39197304	41997906	260	3880										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324347	39324347	+	Silent	SNP	G	G	T													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtggtctggcagcagctgggGcggcagcagctctcctggcc							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:39324347G>T	ENST00000391356.2	-	1	77	c.78C>A	c.(76-78)cgC>cgA	p.R26R		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	26					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGC	0.637																																					p.R26R		Atlas-SNP	.											.	KRTAP4-3	40	.	0			c.C78A						PASS	.						28	31	30					17																	39324347		2198	4295	6493	SO:0001819	synonymous_variant	85290	exon1			GCTGGGGCGGCAG	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.78C>A	17.37:g.39324347G>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	154	30	0.194805	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			.	.	none		0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39324347	G	T	39324347	2	4	15	1	0	0	0	0	0	0	0	1	8552	1190	42	4		4	KRTAP4-3	17	39324347	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	127043	39324347	41870863	261	3881	64	2								
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324348	39324348	+	Missense_Mutation	SNP	C	C	T													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tggtctggcagcagctggggCggcagcagctctcctggccg					rs201948308		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:39324348C>T	ENST00000391356.2	-	1	76	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	26					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGCT	0.642																																					p.R26H		Atlas-SNP	.											.	KRTAP4-3	40	.	0			c.G77A						PASS	.						28	31	30					17																	39324348		2198	4294	6492	SO:0001583	missense	85290	exon1			CTGGGGCGGCAGC	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.77G>A	17.37:g.39324348C>T	ENSP00000375151:p.Arg26His	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	152	30	0.197368	NM_033187		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	9.870	1.198680	0.22121	.	.	ENSG00000196156	ENST00000391356	T	0.01495	4.83	4.65	-8.84	0.00803	.	.	.	.	.	T	0.01523	0.0049	L	0.49778	1.585	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.47923	-0.9079	9	0.44086	T	0.13	.	2.0531	0.03575	0.1031:0.2606:0.2577:0.3786	.	26	Q9BYR4	KRA43_HUMAN	H	26	ENSP00000375151:R26H	ENSP00000375151:R26H	R	-	2	0	KRTAP4-3	36577874	0.428000	0.25522	0.000000	0.03702	0.015000	0.08874	0.180000	0.16860	-0.993000	0.03467	0.467000	0.42956	CGC	.	.	weak		0.642	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39324348	C	T	39324348	3	4	15	1	0	0	0	0	1	0	0	0	8552	768	27	1	514	1	KRTAP4-3	17	39324348	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1	39324348	41870862	262	3882	64	2								
KRTAP9-9	81870	hgsc.bcm.edu	37	chr17	39411694	39411694	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctgcaggaccacctgctgGaagcccaccactgtgaccac	10	16	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:39411694G>C	ENST00000394008.1	+	1	59	c.57G>C	c.(55-57)tgG>tgC	p.W19C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	24	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGGAAGCCCACCA	0.622																																					p.W19C		Atlas-SNP	.											KRTAP9-9,NS,carcinoma,+2,1	KRTAP9-9	24	1	0			c.G57C						scavenged	.																																			SO:0001583	missense	81870	exon1			CTGCTGGAAGCCC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.57G>C	17.37:g.39411694G>C	ENSP00000377576:p.Trp19Cys	Somatic	24	2	0.0833333		WXS	Illumina HiSeq	Phase_I	15	2	0.133333	NM_030975	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153249	0.01700	.	.	ENSG00000198083	ENST00000394008	T	0.00711	5.8	3.04	-5.55	0.02536	.	.	.	.	.	T	0.00210	0.0006	N	0.00152	-1.975	0.20196	N	0.999925	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.02654	T	1	.	6.8781	0.24158	0.0:0.2867:0.1571:0.5562	.	24	Q9BYP9	KRA99_HUMAN	C	19	ENSP00000377576:W19C	ENSP00000377576:W19C	W	+	3	0	KRTAP9-9	36665220	0.000000	0.05858	0.005000	0.12908	0.435000	0.31806	-0.843000	0.04350	-1.036000	0.03287	0.456000	0.33151	TGG	.	.	none		0.622	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		C	39411694	G	C	39411694	3	2	15	1	0	0	0	0	1	0	0	0	8577	1183	41	4	59	4	KRTAP9-9	17	39411694	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	87346	39411694	41783516	263	3883										
GAST	2520	hgsc.bcm.edu	37	chr17	39872062	39872064	+	In_Frame_Del	DEL	GAA	GAA	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agcagggaccatggctggagGaagaagaagaagcctatgga							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:39872062_39872064delGAA	ENST00000329402.3	+	3	311_313	c.244_246delGAA	c.(244-246)gaadel	p.E85del	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	85					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGGCTGGAGGAAGAAGAAGAAG	0.562																																					p.81_82del		Atlas-Indel	.											.	GAST	13	.	0			c.243_245del						PASS	.																																			SO:0001651	inframe_deletion	2520	exon3			.		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.244_246delGAA	17.37:g.39872071_39872073delGAA	ENSP00000331358:p.Glu85del	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	113	15	0.132743	NM_000805	P78463|P78464	In_Frame_Del	DEL	ENST00000329402.3	37	CCDS11404.1																																																																																			.	.	none		0.562	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			-	39872064	GAA	-	39872062	7	5	15	1	0	1	0	1	0	0	0	0	6252	1175	41	0	250	0	GAST	17	39872062	In_Frame_Del	DEL	GAA	TCGA-FF-8061-01A-11D-2210-10	460368	39872062	41323148	264	3884										
STAT3	6774	hgsc.bcm.edu	37	chr17	40474470	40474470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caaatgacatgttgttcagcTgctgctttgtgtatggttcc	10	8	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:40474470T>C	ENST00000264657.5	-	21	2243	c.1931A>G	c.(1930-1932)cAg>cGg	p.Q644R	STAT3_ENST00000389272.3_Missense_Mutation_p.Q546R|STAT3_ENST00000585517.1_Missense_Mutation_p.Q644R|STAT3_ENST00000404395.3_Missense_Mutation_p.Q644R|STAT3_ENST00000588969.1_Missense_Mutation_p.Q644R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	644	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		Missing (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GTTGTTCAGCTGCTGCTTTGT	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.Q644R		Atlas-SNP	.											.	STAT3	268	.	0			c.A1931G	GRCh37	CM083172	STAT3	M		PASS	.						255	223	234					17																	40474470		2203	4300	6503	SO:0001583	missense	6774	exon21	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	TTCAGCTGCTGCT	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1931A>G	17.37:g.40474470T>C	ENSP00000264657:p.Gln644Arg	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	283	137	0.484099	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266403	0.59540	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88354	-2.37;-2.37;-2.37	4.64	4.64	0.57946	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	N	0.11313	0.125	0.58432	D	0.999996	P;P;P	0.49559	0.908;0.925;0.925	D;D;D	0.67900	0.922;0.954;0.954	D	0.87438	0.2393	10	0.33141	T	0.24	-36.6451	14.2314	0.65895	0.0:0.0:0.0:1.0	.	644;644;644	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	R	644;546;644	ENSP00000264657:Q644R;ENSP00000373923:Q546R;ENSP00000384943:Q644R	ENSP00000264657:Q644R	Q	-	2	0	STAT3	37727996	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.128000	0.71650	1.953000	0.56701	0.460000	0.39030	CAG	.	.	none		0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		C	40474470	T	C	40474470	3	2	15	1	0	0	0	0	1	0	0	0	15265	1580	55	3	397	3	STAT3	17	40474470	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	602408	40474470	40720740	265	3885										
STAT3	6774	hgsc.bcm.edu	37	chr17	40474482	40474482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgttcagctgctgctttgtgTatggttccacggactggatc	12	9	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:40474482T>A	ENST00000264657.5	-	21	2231	c.1919A>T	c.(1918-1920)tAc>tTc	p.Y640F	STAT3_ENST00000389272.3_Missense_Mutation_p.Y542F|STAT3_ENST00000585517.1_Missense_Mutation_p.Y640F|STAT3_ENST00000404395.3_Missense_Mutation_p.Y640F|STAT3_ENST00000588969.1_Missense_Mutation_p.Y640F	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	640	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTTTGTGTATGGTTCCAC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.Y640F		Atlas-SNP	.											STAT3,NS,lymphoid_neoplasm,0,46	STAT3	268	46	0			c.A1919T						PASS	.						243	213	223					17																	40474482		2203	4300	6503	SO:0001583	missense	6774	exon21	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	TTTGTGTATGGTT	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1919A>T	17.37:g.40474482T>A	ENSP00000264657:p.Tyr640Phe	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	271	137	0.505535	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813449	0.70912	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.89196	-2.48;-2.48;-2.48	4.64	4.64	0.57946	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	N	0.16016	0.355	0.80722	D	1	D;D;D	0.59357	0.982;0.985;0.985	D;D;D	0.78314	0.984;0.991;0.991	T	0.82589	-0.0382	10	0.06891	T	0.86	-37.3581	14.2314	0.65895	0.0:0.0:0.0:1.0	.	640;640;640	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	F	640;542;640	ENSP00000264657:Y640F;ENSP00000373923:Y542F;ENSP00000384943:Y640F	ENSP00000264657:Y640F	Y	-	2	0	STAT3	37728008	1.000000	0.71417	0.964000	0.40570	0.715000	0.41141	7.868000	0.87116	1.953000	0.56701	0.460000	0.39030	TAC	.	.	none		0.463	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		A	40474482	T	A	40474482	3	1	15	1	0	0	0	0	1	0	0	0	15265	1638	57	5	409	5	STAT3	17	40474482	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	12	40474482	40720728	266	3886										
GOSR2	9570	hgsc.bcm.edu	37	chr17	45008492	45008492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaacgaaatccaagcaagcaTagaccagatattcagccgtc	7	11	1	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:45008492T>C	ENST00000393456.2	+	3	179	c.122T>C	c.(121-123)aTa>aCa	p.I41T	GOSR2_ENST00000439730.2_Missense_Mutation_p.I41T|GOSR2_ENST00000575949.1_Missense_Mutation_p.I41T|GOSR2_ENST00000576910.2_Missense_Mutation_p.I41T|GOSR2_ENST00000415811.2_Missense_Mutation_p.I41T|GOSR2_ENST00000225567.4_Missense_Mutation_p.I41T|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.I41T	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CAAGCAAGCATAGACCAGATA	0.388																																					p.I41T		Atlas-SNP	.											GOSR2_ENST00000415811,NS,carcinoma,+1,2	GOSR2	38	2	0			c.T122C						scavenged	.						78	82	81					17																	45008492		2203	4300	6503	SO:0001583	missense	9570	exon3			CAAGCATAGACCA	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.122T>C	17.37:g.45008492T>C	ENSP00000377101:p.Ile41Thr	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	134	3	0.0223881	NM_001012511	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869433	0.51588	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.47528	0.84;0.84;0.84;1.81	5.66	5.66	0.87406	.	0.041017	0.85682	D	0.000000	T	0.41396	0.1157	L	0.41710	1.295	0.58432	D	0.999999	B;B;B;B	0.32101	0.356;0.162;0.25;0.292	B;B;B;B	0.28709	0.073;0.035;0.093;0.079	T	0.38329	-0.9666	10	0.62326	D	0.03	-16.167	16.2026	0.82095	0.0:0.0:0.0:1.0	.	41;41;41;41	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	T	41	ENSP00000225567:I41T;ENSP00000377101:I41T;ENSP00000394559:I41T;ENSP00000390577:I41T	ENSP00000225567:I41T	I	+	2	0	GOSR2	42363491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.412000	0.52679	2.285000	0.76669	0.533000	0.62120	ATA	.	.	none		0.388	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			C	45008492	T	C	45008492	3	2	15	1	0	0	0	0	1	0	0	0	6578	1406	49	2	132	2	GOSR2	17	45008492	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	4534010	45008492	36186718	267	3887										
NGFR	4804	hgsc.bcm.edu	37	chr17	47572823	47572823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cgccatggacgggccgcgccTgctgctgttgctgcttctgg	15	14	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:47572823T>C	ENST00000172229.3	+	1	169	c.44T>C	c.(43-45)cTg>cCg	p.L15P	NGFR_ENST00000504201.1_5'Flank	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	15					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GGGCCGCGCCTGCTGCTGTTG	0.711																																					p.L15P		Atlas-SNP	.											.	NGFR	46	.	0			c.T44C						PASS	.						4	7	6					17																	47572823		1842	3757	5599	SO:0001583	missense	4804	exon1			CGCGCCTGCTGCT	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.44T>C	17.37:g.47572823T>C	ENSP00000172229:p.Leu15Pro	Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	13	5	0.384615	NM_002507	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463454	0.43736	.	.	ENSG00000064300	ENST00000172229	D	0.91631	-2.88	4.54	4.54	0.55810	.	1.870110	0.02589	N	0.099734	D	0.90652	0.7068	N	0.24115	0.695	0.80722	D	1	P	0.48834	0.916	P	0.49140	0.601	T	0.80696	-0.1267	10	0.45353	T	0.12	-3.3729	10.5353	0.45000	0.0:0.0:0.0:1.0	.	15	P08138	TNR16_HUMAN	P	15	ENSP00000172229:L15P	ENSP00000172229:L15P	L	+	2	0	NGFR	44927822	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	3.325000	0.52030	1.804000	0.52760	0.443000	0.29094	CTG	.	.	none		0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			C	47572823	T	C	47572823	3	2	15	1	0	0	0	0	1	0	0	0	10396	1580	55	3	46	3	NGFR	17	47572823	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2564331	47572823	33622387	268	3888										
CACNA1G	8913	hgsc.bcm.edu	37	chr17	48684317	48684317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggttgggtggacatcatgtaCgatgggctggatgctgtggg	19	5	1	0	rs372261823		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:48684317C>T	ENST00000359106.5	+	24	4479	c.4479C>T	c.(4477-4479)taC>taT	p.Y1493Y	CACNA1G_ENST00000360761.4_Silent_p.Y1470Y|CACNA1G_ENST00000510366.1_Silent_p.Y1493Y|CACNA1G_ENST00000429973.2_Silent_p.Y1493Y|CACNA1G_ENST00000515165.1_Silent_p.Y1493Y|CACNA1G_ENST00000515765.1_Silent_p.Y1493Y|CACNA1G_ENST00000442258.2_Silent_p.Y1470Y|CACNA1G_ENST00000507609.1_Silent_p.Y1493Y|CACNA1G_ENST00000352832.5_Silent_p.Y1470Y|CACNA1G_ENST00000514079.1_Silent_p.Y1493Y|CACNA1G_ENST00000513689.2_Silent_p.Y1493Y|CACNA1G_ENST00000505165.1_Silent_p.Y1493Y|CACNA1G_ENST00000502264.1_Silent_p.Y1470Y|CACNA1G_ENST00000507336.1_Silent_p.Y1493Y|CACNA1G_ENST00000507510.2_Silent_p.Y1493Y|CACNA1G_ENST00000514181.1_Silent_p.Y1493Y|CACNA1G_ENST00000503485.1_Silent_p.Y1493Y|CACNA1G_ENST00000515411.1_Silent_p.Y1493Y|CACNA1G_ENST00000513964.1_Silent_p.Y1493Y|CACNA1G_ENST00000358244.5_Silent_p.Y1470Y|CACNA1G_ENST00000512389.1_Silent_p.Y1493Y|CACNA1G_ENST00000514717.1_Silent_p.Y1470Y|CACNA1G_ENST00000510115.1_Silent_p.Y1470Y|CACNA1G_ENST00000507896.1_Silent_p.Y1493Y|CACNA1G_ENST00000354983.4_Silent_p.Y1470Y	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1493					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACATCATGTACGATGGGCTGG	0.572																																					p.Y1493Y		Atlas-SNP	.											CACNA1G_ENST00000359106,NS,carcinoma,0,3	CACNA1G	659	3	0			c.C4479T						scavenged	.	C	,,,,,,,,,,,,,	0,4274		0,0,2137	132	126	128		4479,4410,4410,4479,4410,4479,4410,4410,4479,4479,4479,4410,4410,4410	-6.8	0.5	17		128	1,8459		0,1,4229	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	0,1,6366	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,,,,,,	1493/2378,1470/2172,1470/2355,1493/2274,1470/2299,1493/2322,1470/2262,1470/2307,1493/2285,1493/2333,1493/2267,1470/2251,1470/2244,1470/2344	48684317	1,12733	2137	4230	6367	SO:0001819	synonymous_variant	8913	exon24			CATGTACGATGGG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4479C>T	17.37:g.48684317C>T		Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	168	3	0.0178571	NM_001256360	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			.	.	weak		0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48684317	C	T	48684317	2	4	15	1	0	0	0	0	0	0	0	1	2544	547	19	1		1	CACNA1G	17	48684317	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1111494	48684317	32510893	269	3889										
BRIP1	83990	hgsc.bcm.edu	37	chr17	59853911	59853911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttggggcctgacccaatggTaccaacccaaacctagaata	8	13	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:59853911T>C	ENST00000259008.2	-	14	2215	c.1948A>G	c.(1948-1950)Acc>Gcc	p.T650A	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.T650A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	650					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						GACCCAATGGTACCAACCCAA	0.383			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																													p.T650A		Atlas-SNP	.	yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	BRIP1_ENST00000259008,caecum,carcinoma,+2,3	BRIP1	237	3	0			c.A1948G						scavenged	.						112	110	111					17																	59853911		2203	4300	6503	SO:0001583	missense	83990	exon14			CAATGGTACCAAC	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.1948A>G	17.37:g.59853911T>C	ENSP00000259008:p.Thr650Ala	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	77	3	0.038961	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855272	0.71719	.	.	ENSG00000136492	ENST00000259008	T	0.75154	-0.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	L	0.28649	0.875	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.77584	-0.2533	9	.	.	.	-9.7187	15.1372	0.72576	0.0:0.0:0.0:1.0	.	650;650	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	A	650	ENSP00000259008:T650A	.	T	-	1	0	BRIP1	57208693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.198000	0.77823	2.167000	0.68274	0.533000	0.62120	ACC	.	.	none		0.383	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		C	59853911	T	C	59853911	3	2	15	1	0	0	0	0	1	0	0	0	1514	1638	57	2	1829	2	BRIP1	17	59853911	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	11169594	59853911	21341299	270	3890										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73552167	73552167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcaccagcccagcgccctcgGctacagcccgtccctgcgca	10	21	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:73552167G>A	ENST00000392550.3	+	3	233	c.116G>A	c.(115-117)gGc>gAc	p.G39D	LLGL2_ENST00000578363.1_Missense_Mutation_p.G39D|LLGL2_ENST00000577200.1_Missense_Mutation_p.G39D|LLGL2_ENST00000167462.5_Missense_Mutation_p.G39D|LLGL2_ENST00000375227.4_Missense_Mutation_p.G39D	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	39					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCGCCCTCGGCTACAGCCCG	0.687																																					p.G39D		Atlas-SNP	.											.	LLGL2	155	.	0			c.G116A						PASS	.						75	64	68					17																	73552167		2202	4300	6502	SO:0001583	missense	3993	exon3			CCCTCGGCTACAG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.116G>A	17.37:g.73552167G>A	ENSP00000376333:p.Gly39Asp	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_001015002	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109326	0.37242	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227	T;T;T	0.61742	1.7;1.7;0.08	4.68	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051374	0.85682	D	0.000000	T	0.53465	0.1798	L	0.36672	1.1	0.49687	D	0.999815	B;B;B	0.27971	0.169;0.124;0.196	B;B;B	0.33799	0.049;0.049;0.17	T	0.56649	-0.7944	10	0.56958	D	0.05	-7.1885	17.7752	0.88505	0.0:0.0:1.0:0.0	.	39;39;39	Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;L2GL2_HUMAN;.	D	39	ENSP00000167462:G39D;ENSP00000376333:G39D;ENSP00000364375:G39D	ENSP00000167462:G39D	G	+	2	0	LLGL2	71063762	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	3.755000	0.55197	2.431000	0.82371	0.563000	0.77884	GGC	.	.	none		0.687	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		A	73552167	G	A	73552167	3	1	15	1	0	0	0	0	1	0	0	0	8834	1203	42	2	122	2	LLGL2	17	73552167	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	13698256	73552167	7643043	271	3891										
FAM100B	283991	hgsc.bcm.edu	37	chr17	74261677	74261677	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggccgaccaggcgaagcagTtgctgcaggcggcccactgg	16	14	0	0	rs2585751	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr17:74261677T>C	ENST00000327490.6	+	1	395	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	31																	GGCGAAGCAGTTGCTGCAGGC	0.766													C|||	3578	0.714457	0.8843	0.6412	5008	,	,		3805	0.7024		0.5547	False		,,,				2504	0.7137				p.L31L		Atlas-SNP	.											.	.	.	.	0			c.T91C						PASS	.	C		3526,686		1494,538,74	10	12	11		91	2.6	1	17	dbSNP_100	11	4861,3485		1480,1901,792	no	coding-synonymous	FAM100B	NM_182565.3		2974,2439,866	CC,CT,TT		41.7565,16.2868,33.2139		31/165	74261677	8387,4171	2106	4173	6279	SO:0001819	synonymous_variant	283991	exon1			AAGCAGTTGCTGC		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.91T>C	17.37:g.74261677T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_182565		Silent	SNP	ENST00000327490.6	37	CCDS11742.1																																																																																			T|0.357;C|0.643	0.643	strong		0.766	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		C	74261677	T	C	74261677	2	2	15	1	0	0	0	0	0	0	0	1	5379	1722	60	2		2	FAM100B	17	74261677	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	709510	74261677	6933533	272	3892										
KIAA0802	23255	hgsc.bcm.edu	37	chr18	8806921	8806921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	accagcagctgttcagcgccTtcaaggccttgctggaggac	12	13	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:8806921T>C	ENST00000306329.11	+	9	3424	c.3424T>C	c.(3424-3426)Ttc>Ctc	p.F1142L	SOGA2_ENST00000306285.7_Missense_Mutation_p.F138L|SOGA2_ENST00000400050.3_Missense_Mutation_p.F782L|SOGA2_ENST00000359865.3_Missense_Mutation_p.F823L|SOGA2_ENST00000517570.1_Missense_Mutation_p.F782L|SOGA2_ENST00000518815.1_Missense_Mutation_p.F138L																							GTTCAGCGCCTTCAAGGCCTT	0.587																																					p.F823L		Atlas-SNP	.											CCDC165,NS,carcinoma,-2,1	.	.	1	0			c.T2467C						scavenged	.						70	61	64					18																	8806921		2203	4300	6503	SO:0001583	missense	23255	exon11			AGCGCCTTCAAGG																												ENST00000306329.11:c.3424T>C	18.37:g.8806921T>C	ENSP00000305027:p.Phe1142Leu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	62	3	0.0483871	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	T	0.201	-1.045061	0.01997	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.54	4.67	0.58626	.	0.145473	0.32444	N	0.006085	T	0.04543	0.0124	N	0.00621	-1.32	0.23704	N	0.997068	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39418	-0.9615	10	0.02654	T	1	-19.4729	6.0193	0.19620	0.0:0.6353:0.1402:0.2244	.	1133;823	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	844;782;823;782;138	ENSP00000429556:F782L;ENSP00000352927:F823L;ENSP00000382924:F782L;ENSP00000303670:F138L	ENSP00000303670:F138L	F	+	1	0	CCDC165	8796921	0.802000	0.28943	0.123000	0.21794	0.132000	0.20833	1.531000	0.36018	1.461000	0.47929	-0.242000	0.12053	TTC	.	.	none		0.587	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			C	8806921	T	C	8806921	3	2	15	1	0	0	0	0	1	0	0	0	8194	1609	56	3	2501	3	KIAA0802	18	8806921	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10		8806921	69270327	273	3893										
ESCO1	114799	hgsc.bcm.edu	37	chr18	19153337	19153337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caatggtgggtcagaaggttTtatctcattggccaaatgac	11	7	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:19153337T>C	ENST00000269214.5	-	4	2405	c.1468A>G	c.(1468-1470)Aaa>Gaa	p.K490E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	490					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCAGAAGGTTTTATCTCATTG	0.318																																					p.K490E		Atlas-SNP	.											ESCO1,caecum,carcinoma,+1,2	ESCO1	89	2	0			c.A1468G						scavenged	.						85	82	83					18																	19153337		2203	4299	6502	SO:0001583	missense	114799	exon4			AAGGTTTTATCTC	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1468A>G	18.37:g.19153337T>C	ENSP00000269214:p.Lys490Glu	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	174	3	0.0172414	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705479	0.48412	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.63255	-0.03;1.48	5.16	3.98	0.46160	.	0.000000	0.64402	D	0.000005	T	0.52885	0.1762	M	0.64997	1.995	0.32572	N	0.5296	B	0.27823	0.19	B	0.24701	0.055	T	0.55283	-0.8165	10	0.12766	T	0.61	-22.1074	9.0532	0.36389	0.0:0.0:0.1851:0.8148	.	490	Q5FWF5	ESCO1_HUMAN	E	490	ENSP00000269214:K490E;ENSP00000372763:K490E	ENSP00000269214:K490E	K	-	1	0	ESCO1	17407335	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	1.158000	0.31737	0.962000	0.38057	0.533000	0.62120	AAA	.	.	none		0.318	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		C	19153337	T	C	19153337	3	2	15	1	0	0	0	0	1	0	0	0	5248	1850	64	2	1090	2	ESCO1	18	19153337	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	10346416	19153337	58923911	274	3894										
SLC14A2	8170	hgsc.bcm.edu	37	chr18	43262359	43262359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcctgacgaccaataaccccGccatctacaagctcccgctc	5	19	1	1	rs3745009	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:43262359G>A	ENST00000255226.6	+	20	3454	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A357T|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A880T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	880			A -> T (in dbSNP:rs3745009). {ECO:0000269|PubMed:15489334}.		transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.A880T(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAATAACCCCGCCATCTACAA	0.527													G|||	2142	0.427716	0.4024	0.3761	5008	,	,		19225	0.3869		0.4404	False		,,,				2504	0.5276				p.A880T		Atlas-SNP	.											SLC14A2,NS,carcinoma,0,2	SLC14A2	121	2	1	Substitution - Missense(1)	prostate(1)	c.G2638A	GRCh37	CM013794	SLC14A2	M	rs3745009	scavenged	.	G	THR/ALA,THR/ALA	1720,2686	517.8+/-369.5	354,1012,837	271	262	265		2638,2638	5.1	1	18	dbSNP_107	265	3870,4730	544.3+/-384.6	862,2146,1292	yes	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	58,58	1216,3158,2129	AA,AG,GG		45.0,39.0377,42.9802	benign,benign	880/921,880/921	43262359	5590,7416	2203	4300	6503	SO:0001583	missense	8170	exon21			AACCCCGCCATCT	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2638G>A	18.37:g.43262359G>A	ENSP00000255226:p.Ala880Thr	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	234	4	0.017094	NM_001242692	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	880	0.40293040293040294	196	0.3983739837398374	127	0.35082872928176795	223	0.38986013986013984	334	0.44063324538258575	G	15.21	2.766981	0.49574	0.390377	0.45	ENSG00000132874	ENST00000255226	T	0.51071	0.72	5.14	5.14	0.70334	.	0.110360	0.39687	N	0.001291	T	0.00012	0.0000	L	0.48877	1.53	0.09310	P	0.9999999999999103	B	0.16396	0.017	B	0.19148	0.024	T	0.43360	-0.9396	9	0.23302	T	0.38	-11.6177	18.2166	0.89887	0.0:0.0:1.0:0.0	rs3745009;rs52819242;rs58066525;rs3745009	880	Q15849	UT2_HUMAN	T	880	ENSP00000255226:A880T	ENSP00000255226:A880T	A	+	1	0	SLC14A2	41516357	0.978000	0.34361	0.967000	0.41034	0.993000	0.82548	1.970000	0.40520	2.390000	0.81377	0.561000	0.74099	GCC	G|0.573;A|0.427	0.427	strong		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43262359	G	A	43262359	3	1	15	1	0	0	0	0	1	0	0	0	14397	1087	38	1	2712	1	SLC14A2	18	43262359	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	24109022	43262359	34814889	275	3895										
KATNAL2	83473	hgsc.bcm.edu	37	chr18	44580782	44580782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacagcagaaaataatttacCgcaaagaagtagagggaaga	10	6	0	4	rs181204080		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:44580782C>T	ENST00000245121.5	+	3	283	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P102L	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.P30L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		21417	0.001		0.0	False		,,,				2504	0.0				p.P30L		Atlas-SNP	.											KATNAL2,NS,carcinoma,0,1	KATNAL2	64	1	1	Substitution - Missense(1)	lung(1)	c.C89T						scavenged	.	C	LEU/PRO	0,4406		0,0,2203	166	179	174		89	3.8	0.8	18		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	KATNAL2	NM_031303.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	30/467	44580782	1,13005	2203	4300	6503	SO:0001583	missense	83473	exon3			ATTTACCGCAAAG	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.89C>T	18.37:g.44580782C>T	ENSP00000245121:p.Pro30Leu	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	192	3	0.015625	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.38	1.621004	0.28889	0.0	1.16E-4	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93953	-3.32;-3.23	5.57	3.8	0.43715	.	0.824098	0.11169	N	0.592243	D	0.91226	0.7235	L	0.51422	1.61	0.22562	N	0.998988	.	.	.	.	.	.	T	0.83253	-0.0052	8	0.46703	T	0.11	-13.8033	5.1475	0.14993	0.1651:0.6634:0.0:0.1715	.	.	.	.	L	102;30	ENSP00000348478:P102L;ENSP00000245121:P30L	ENSP00000245121:P30L	P	+	2	0	KATNAL2	42834780	0.529000	0.26322	0.824000	0.32777	0.980000	0.70556	1.812000	0.38952	0.729000	0.32403	0.462000	0.41574	CCG	C|1.000;T|0.000	0.000	strong		0.388	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		T	44580782	C	T	44580782	3	4	15	1	0	0	0	0	1	0	0	0	7986	652	23	1	95	1	KATNAL2	18	44580782	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1318423	44580782	33496466	276	3896										
SERPINB10	5273	hgsc.bcm.edu	37	chr18	61600364	61600364	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaagccaaaagcagtgggccTtcaactctactacaaaagcc	7	12	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:61600364T>G	ENST00000238508.3	+	7	775	c.716T>G	c.(715-717)cTt>cGt	p.L239R		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	239					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GCAGTGGGCCTTCAACTCTAC	0.383																																					p.L239R		Atlas-SNP	.											.	SERPINB10	53	.	0			c.T716G						PASS	.						118	130	126					18																	61600364		2203	4300	6503	SO:0001583	missense	5273	exon6			TGGGCCTTCAACT	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.716T>G	18.37:g.61600364T>G	ENSP00000238508:p.Leu239Arg	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	61	12	0.196721	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116431	0.56505	.	.	ENSG00000242550	ENST00000238508	D	0.86694	-2.16	5.95	5.95	0.96441	Serpin domain (3);	0.219993	0.40385	N	0.001119	D	0.96175	0.8753	H	0.98646	4.29	0.47153	D	0.999333	D	0.89917	1.0	D	0.69824	0.966	D	0.97755	1.0217	10	0.87932	D	0	.	15.61	0.76707	0.0:0.0:0.0:1.0	.	239	P48595	SPB10_HUMAN	R	239	ENSP00000238508:L239R	ENSP00000238508:L239R	L	+	2	0	SERPINB10	59751344	0.981000	0.34729	0.564000	0.28396	0.115000	0.19883	5.005000	0.63972	2.282000	0.76494	0.533000	0.62120	CTT	.	.	none		0.383	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		G	61600364	T	G	61600364	3	3	15	1	0	0	0	0	1	0	0	0	14097	1609	56	5	738	5	SERPINB10	18	61600364	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	17019582	61600364	16476884	277	3897										
PARD6G	84552	hgsc.bcm.edu	37	chr18	77960661	77960661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccttgcagaagttgtcatcaTtgttgatgggcagcaggtct	12	8	3	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr18:77960661T>C	ENST00000353265.3	-	2	424	c.227A>G	c.(226-228)aAt>aGt	p.N76S	AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Missense_Mutation_p.N76S	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	76	OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GTTGTCATCATTGTTGATGGG	0.498																																					p.N76S		Atlas-SNP	.											.	PARD6G	20	.	0			c.A227G						PASS	.						108	100	103					18																	77960661		2203	4300	6503	SO:0001583	missense	84552	exon2			TCATCATTGTTGA		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.227A>G	18.37:g.77960661T>C	ENSP00000343144:p.Asn76Ser	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_032510	A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311065	0.81358	.	.	ENSG00000178184	ENST00000353265	T	0.16324	2.35	5.43	5.43	0.79202	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.91635	0.829;0.999	T	0.50355	-0.8838	9	.	.	.	-32.4304	14.5927	0.68378	0.0:0.0:0.0:1.0	.	76;76	A8QM57;Q9BYG4	.;PAR6G_HUMAN	S	76	ENSP00000343144:N76S	.	N	-	2	0	PARD6G	76061652	1.000000	0.71417	0.931000	0.37212	0.850000	0.48378	6.824000	0.75288	2.282000	0.76494	0.533000	0.62120	AAT	.	.	none		0.498	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		C	77960661	T	C	77960661	3	2	15	1	0	0	0	0	1	0	0	0	11447	1493	52	2	911	2	PARD6G	18	77960661	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	16360297	77960661	116587	278	3898										
ADAMTSL5	339366	hgsc.bcm.edu	37	chr19	1510692	1510692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcccgcaggagctggagcagCgggtccaggacacccacggg	17	14	0	0	rs550092054		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:1510692C>T	ENST00000413997.2	-	3	166	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.R46H|ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000395467.2_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	56	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCTGGAGCAGCGGGTCCAGGA	0.741																																					p.R46H		Atlas-SNP	.											.	ADAMTSL5	24	.	0			c.G137A						PASS	.						4	4	4					19																	1510692		1835	3619	5454	SO:0001583	missense	339366	exon3			GAGCAGCGGGTCC	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.167G>A	19.37:g.1510692C>T	ENSP00000399364:p.Arg56His	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	43	16	0.372093	NM_213604	B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.230248	0.58777	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.53206	0.63;0.63	3.43	1.08	0.20341	.	0.329393	0.27206	N	0.020425	T	0.30916	0.0780	N	0.11698	0.16	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.51918	0.684;0.594	T	0.14980	-1.0453	10	0.44086	T	0.13	.	2.1487	0.03794	0.1977:0.4922:0.1932:0.1169	.	56;46	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	H	56;46	ENSP00000399364:R56H;ENSP00000327608:R46H	ENSP00000327608:R46H	R	-	2	0	ADAMTSL5	1461692	0.015000	0.18098	0.987000	0.45799	0.871000	0.50021	0.129000	0.15830	0.129000	0.18514	0.456000	0.33151	CGC	.	.	none		0.741	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		T	1510692	C	T	1510692	3	4	15	1	0	0	0	0	1	0	0	0	278	768	27	1	1318	1	ADAMTSL5	19	1510692	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		1510692	57618291	279	3899										
MKNK2	2872	hgsc.bcm.edu	37	chr19	2041911	2041911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggcccacgaagggcgggtaGccgctgagtaggatatacaa	15	10	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:2041911G>A	ENST00000591601.1	-	10	908	c.873C>T	c.(871-873)ggC>ggT	p.G291G	MKNK2_ENST00000541165.1_Silent_p.G160G|MKNK2_ENST00000591142.1_Silent_p.G35G|MKNK2_ENST00000591588.1_Silent_p.G35G|MKNK2_ENST00000309340.7_Silent_p.G291G|MKNK2_ENST00000588014.1_Silent_p.G35G|MKNK2_ENST00000250896.3_Silent_p.G291G			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		AGGGCGGGTAGCCGCTGAGTA	0.697																																					p.G291G		Atlas-SNP	.											.	MKNK2	56	.	0			c.C873T						PASS	.						24	20	22					19																	2041911		2102	4136	6238	SO:0001819	synonymous_variant	2872	exon11			CGGGTAGCCGCTG	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.873C>T	19.37:g.2041911G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	38	5	0.131579	NM_017572	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	CCDS12080.1																																																																																			.	.	none		0.697	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		A	2041911	G	A	2041911	2	1	15	1	0	0	0	0	0	0	0	1	9605	958	34	2		2	MKNK2	19	2041911	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	531219	2041911	57087072	280	3900										
SLC39A3	29985	hgsc.bcm.edu	37	chr19	2732986	2732986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cccagggggatcatggcgctTacggtgaccgccagcttggc	15	13	1	1	rs759073	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:2732986T>C	ENST00000269740.4	-	3	1037	c.708A>G	c.(706-708)gtA>gtG	p.V236V	SLC39A3_ENST00000545664.1_Silent_p.V236V|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	236					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGCTTACGGTGACCG	0.736													C|||	3132	0.625399	0.907	0.3905	5008	,	,		14002	0.6468		0.4414	False		,,,				2504	0.5787				p.V236V		Atlas-SNP	.											SLC39A3,NS,carcinoma,0,1	SLC39A3	20	1	0			c.A708G						scavenged	.	C		3669,719		1542,585,67	19	22	21		708	2.4	1	19	dbSNP_86	21	3873,4701		921,2031,1335	no	coding-synonymous	SLC39A3	NM_144564.4		2463,2616,1402	CC,CT,TT		45.1714,16.3856,41.8145		236/315	2732986	7542,5420	2194	4287	6481	SO:0001819	synonymous_variant	29985	exon3			GGCGCTTACGGTG	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.708A>G	19.37:g.2732986T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_144564	B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	CCDS12093.1																																																																																			T|0.411;C|0.589	0.589	strong		0.736	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			C	2732986	T	C	2732986	2	2	15	1	0	0	0	0	0	0	0	1	14619	1741	61	2		2	SLC39A3	19	2732986	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	691075	2732986	56395997	281	3901										
C3	718	hgsc.bcm.edu	37	chr19	6714453	6714453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcttgaccgggatgccttccGggttctgtgggaggcaggag	18	9	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:6714453G>A	ENST00000245907.6	-	5	601	c.509C>T	c.(508-510)cCg>cTg	p.P170L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	170					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATGCCTTCCGGGTTCTGTGG	0.567																																					p.P170L		Atlas-SNP	.											.	C3	192	.	0			c.C509T						PASS	.						57	48	51					19																	6714453		2203	4299	6502	SO:0001583	missense	718	exon5			CCTTCCGGGTTCT	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.509C>T	19.37:g.6714453G>A	ENSP00000245907:p.Pro170Leu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	61	26	0.42623	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085611	0.55861	.	.	ENSG00000125730	ENST00000245907	T	0.78481	-1.18	4.97	4.97	0.65823	Alpha-2-macroglobulin, N-terminal (1);	0.168178	0.53938	D	0.000053	D	0.91717	0.7381	H	0.96142	3.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94274	0.7513	10	0.87932	D	0	.	15.7294	0.77790	0.0:0.0:1.0:0.0	.	170	P01024	CO3_HUMAN	L	170	ENSP00000245907:P170L	ENSP00000245907:P170L	P	-	2	0	C3	6665453	1.000000	0.71417	0.904000	0.35570	0.061000	0.15899	6.362000	0.73077	2.297000	0.77311	0.509000	0.49947	CCG	.	.	none		0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6714453	G	A	6714453	3	1	15	1	0	0	0	0	1	0	0	0	2204	1116	39	1	4630	1	C3	19	6714453	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	3981467	6714453	52414530	282	3902										
MUC16	94025	hgsc.bcm.edu	37	chr19	9012826	9012826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	acttcctggagcctgggtgaTgcatgtcctcctcgtactgc	11	13	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:9012826T>C	ENST00000397910.4	-	34	38821	c.38618A>G	c.(38617-38619)cAt>cGt	p.H12873R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12875	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGGTGATGCATGTCCTC	0.587																																					p.H12873R		Atlas-SNP	.											MUC16_ENST00000397910,NS,lymphoid_neoplasm,0,2	MUC16	4315	2	0			c.A38618G						scavenged	.						225	191	202					19																	9012826		2025	4191	6216	SO:0001583	missense	94025	exon34			GGGTGATGCATGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38618A>G	19.37:g.9012826T>C	ENSP00000381008:p.His12873Arg	Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	220	4	0.0181818	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.961	-0.703220	0.03255	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.28666	1.6	1.74	-3.49	0.04724	.	.	.	.	.	T	0.23094	0.0558	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.04737	-1.0930	7	0.87932	D	0	2.498	9.967	0.41730	0.0:0.6375:0.0:0.3625	.	12873	B5ME49	.	R	12873;26	ENSP00000381008:H12873R	ENSP00000381008:H12873R	H	-	2	0	MUC16	8873826	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.071000	0.00082	-2.450000	0.00543	-2.166000	0.00325	CAT	.	.	none		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9012826	T	C	9012826	3	2	15	1	0	0	0	0	1	0	0	0	9973	1464	51	2	5109	2	MUC16	19	9012826	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2298373	9012826	50116157	283	3903										
ZNF653	115950	hgsc.bcm.edu	37	chr19	11598600	11598600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcccaccgggctggtgggCgtcgctgccgctgccgctgc	16	17	0	0	rs184960221	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:11598600C>T	ENST00000293771.5	-	4	814	c.678G>A	c.(676-678)acG>acA	p.T226T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	226					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(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GGCTGGTGGGCGTCGCTGCCG	0.672													C|||	240	0.0479233	0.0393	0.0994	5008	,	,		9045	0.0397		0.0408	False		,,,				2504	0.0389				p.T226T	Pancreas(83;980 1446 4542 6441 43352)	Atlas-SNP	.											ZNF653,NS,carcinoma,0,1	ZNF653	48	1	0			c.G678A						scavenged	.						25	24	24					19																	11598600		2175	4227	6402	SO:0001819	synonymous_variant	115950	exon4			GGTGGGCGTCGCT	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.678G>A	19.37:g.11598600C>T		Somatic	36	1	0.0277778		WXS	Illumina HiSeq	Phase_I	57	5	0.0877193	NM_138783	Q96AS7	Silent	SNP	ENST00000293771.5	37	CCDS12261.1																																																																																			C|0.959;T|0.041	0.041	strong		0.672	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		T	11598600	C	T	11598600	2	4	15	1	0	0	0	0	0	0	0	1	18063	755	27	1		1	ZNF653	19	11598600	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2585774	11598600	47530383	284	3904										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12501620	12501620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacattccttacattcatacGgcttctctccagagtgaatt	5	12	2	2	rs370276871		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:12501620G>T	ENST00000430385.3	-	4	1792	c.1592C>A	c.(1591-1593)cCg>cAg	p.P531Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.P499Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	531					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACATTCATACGGCTTCTCTCC	0.393																																					p.P531Q		Atlas-SNP	.											ZNF799_ENST00000430385,NS,carcinoma,+1,2	ZNF799	111	2	0			c.C1592A						scavenged	.						84	86	85					19																	12501620		2197	4296	6493	SO:0001583	missense	90576	exon4			TCATACGGCTTCT	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1592C>A	19.37:g.12501620G>T	ENSP00000411084:p.Pro531Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141289	0.37825	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.28454	1.61;1.61	1.31	0.225	0.15325	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53722	0.1814	M	0.85099	2.735	0.27211	N	0.959925	D	0.89917	1.0	D	0.87578	0.998	T	0.40997	-0.9533	9	0.87932	D	0	.	6.8533	0.24026	0.1719:0.0:0.8281:0.0	.	531	Q96GE5	ZN799_HUMAN	Q	499;531	ENSP00000415278:P499Q;ENSP00000411084:P531Q	ENSP00000415278:P499Q	P	-	2	0	ZNF799	12362620	0.215000	0.23574	0.004000	0.12327	0.023000	0.10783	0.888000	0.28268	0.116000	0.18110	-0.450000	0.05554	CCG	.	.	alt		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501620	G	T	12501620	3	4	15	1	0	0	0	0	1	0	0	0	18163	1116	39	4	343	4	ZNF799	19	12501620	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	903020	12501620	46627363	285	3905										
ZNF791	163049	hgsc.bcm.edu	37	chr19	12735492	12735492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgggaagacccgaatgttgaAgatcaacacaaaaaccaagg	10	8	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:12735492A>G	ENST00000343325.4	+	3	321	c.159A>G	c.(157-159)gaA>gaG	p.E53E	ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000458122.3_Silent_p.E21E	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGAATGTTGAAGATCAACACA	0.328																																					p.E53E		Atlas-SNP	.											ZNF791,NS,carcinoma,+2,1	ZNF791	53	1	0			c.A159G						scavenged	.						68	64	66					19																	12735492		2203	4300	6503	SO:0001819	synonymous_variant	163049	exon3			TGTTGAAGATCAA	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.159A>G	19.37:g.12735492A>G		Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	208	3	0.0144231	NM_153358	B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	CCDS12273.1																																																																																			.	.	none		0.328	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		G	12735492	A	G	12735492	2	3	15	1	0	0	0	0	0	0	0	1	18160	69	3	3		3	ZNF791	19	12735492	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	233872	12735492	46393491	286	3906										
SYCE2	256126	hgsc.bcm.edu	37	chr19	13010850	13010850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcagccacagaagaaacgaAcacgtctgggggctgtgagt	13	9	2	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:13010850A>G	ENST00000293695.7	-	5	598	c.580T>C	c.(580-582)Ttc>Ctc	p.F194L	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	194					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GAAGAAACGAACACGTCTGGG	0.532																																					p.F194L		Atlas-SNP	.											.	SYCE2	19	.	0			c.T580C						PASS	.						56	63	61					19																	13010850		1915	4123	6038	SO:0001583	missense	256126	exon5			AAACGAACACGTC	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.580T>C	19.37:g.13010850A>G	ENSP00000293695:p.Phe194Leu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_001105578	B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612603	0.28712	.	.	ENSG00000161860	ENST00000293695	D	0.85629	-2.01	3.46	-3.27	0.05048	.	.	.	.	.	T	0.71160	0.3307	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56757	-0.7926	9	0.87932	D	0	.	5.1896	0.15203	0.2862:0.0:0.5364:0.1775	.	194	Q6PIF2	SYCE2_HUMAN	L	194	ENSP00000293695:F194L	ENSP00000293695:F194L	F	-	1	0	SYCE2	12871850	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.037000	0.03557	-0.830000	0.04262	-0.464000	0.05259	TTC	.	.	none		0.532	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		G	13010850	A	G	13010850	3	3	15	1	0	0	0	0	1	0	0	0	15426	43	2	2	84	2	SYCE2	19	13010850	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	275358	13010850	46118133	287	3907										
PRKACA	5566	hgsc.bcm.edu	37	chr19	14204559	14204559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atctacctgcaggaggttccGcagcaggtccttcaagtcag	11	12	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:14204559G>A	ENST00000308677.4	-	9	1007	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_Missense_Mutation_p.R263W	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGGAGGTTCCGCAGCAGGTCC	0.547																																					p.R271W		Atlas-SNP	.											.	PRKACA	65	.	0			c.C811T						PASS	.						97	88	91					19																	14204559		2203	4300	6503	SO:0001583	missense	5566	exon9			GGTTCCGCAGCAG		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.811C>T	19.37:g.14204559G>A	ENSP00000309591:p.Arg271Trp	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	162	67	0.41358	NM_002730	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850706	0.71719	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.66815	-0.23	4.89	4.89	0.63831	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	0.48286	D	0.000193	T	0.82190	0.4983	M	0.88906	2.99	0.42130	D	0.991466	D;D	0.67145	0.995;0.996	D;D	0.69307	0.963;0.918	D	0.85403	0.1132	10	0.87932	D	0	.	10.785	0.46401	0.0:0.0:0.8106:0.1894	.	271;263	P17612;P17612-2	KAPCA_HUMAN;.	W	271;263;271	ENSP00000309591:R271W	ENSP00000309591:R271W	R	-	1	2	PRKACA	14065559	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	2.068000	0.41471	2.271000	0.75665	0.491000	0.48974	CGG	.	.	none		0.547	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		A	14204559	G	A	14204559	3	1	15	1	0	0	0	0	1	0	0	0	12497	1086	38	1	252	1	PRKACA	19	14204559	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1193709	14204559	44924424	288	3908										
LPHN1	22859	hgsc.bcm.edu	37	chr19	14261777	14261777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtagccctcgtggctaggacGccgcacctggtagtagccct	13	14	0	0	rs375528213		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:14261777G>A	ENST00000340736.6	-	24	4630	c.4333C>T	c.(4333-4335)Cgt>Tgt	p.R1445C	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1440C|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1445					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGCTAGGACGCCGCACCTGG	0.711																																					p.R1445C		Atlas-SNP	.											.	LPHN1	107	.	0			c.C4333T						PASS	.	G	CYS/ARG,CYS/ARG	0,4282		0,0,2141	9	10	10		4333,4318	0.2	1	19		10	1,8383		0,1,4191	no	missense,missense	LPHN1	NM_001008701.2,NM_014921.4	180,180	0,1,6332	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	1445/1475,1440/1470	14261777	1,12665	2141	4192	6333	SO:0001583	missense	22859	exon24			TAGGACGCCGCAC	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4333C>T	19.37:g.14261777G>A	ENSP00000340688:p.Arg1445Cys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	110	41	0.372727	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806701	0.50421	0.0	1.19E-4	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.79454	-1.27;-1.27	3.94	0.249	0.15531	GPCR, family 2, latrophilin, C-terminal (1);	0.194324	0.31450	N	0.007633	D	0.82568	0.5065	M	0.65975	2.015	0.43913	D	0.996557	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.969	T	0.78700	-0.2102	10	0.87932	D	0	.	5.6925	0.17837	0.1007:0.0:0.5742:0.3251	.	1440;1445	O94910-2;O94910	.;LPHN1_HUMAN	C	1445;1440	ENSP00000340688:R1445C;ENSP00000355328:R1440C	ENSP00000340688:R1445C	R	-	1	0	LPHN1	14122777	0.997000	0.39634	0.996000	0.52242	0.857000	0.48899	0.527000	0.22987	-0.153000	0.11137	0.205000	0.17691	CGT	.	.	weak		0.711	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14261777	G	A	14261777	3	1	15	1	0	0	0	0	1	0	0	0	8915	1087	38	1	95	1	LPHN1	19	14261777	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	57218	14261777	44867206	289	3909										
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																					p.Y290Y		Atlas-SNP	.											OR7A5,NS,carcinoma,0,1	OR7A5	43	1	2	Substitution - coding silent(2)	kidney(2)	c.T870C						scavenged	.						74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659	exon1			CAGACTATAGATA	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G		Somatic	62	1	0.016129		WXS	Illumina HiSeq	Phase_I	96	4	0.0416667	NM_017506	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			A|0.999;G|0.001	0.001	weak		0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938184	A	G	14938184	2	3	15	1	0	0	0	0	0	0	0	1	11216	456	16	2		2	OR7A5	19	14938184	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	676407	14938184	44190799	290	3910										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	9	16	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M		Atlas-SNP	.											RHPN2,face,carcinoma,0,2	RHPN2	107	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A						scavenged	.						84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met	Somatic	34	1	0.0294118		WXS	Illumina HiSeq	Phase_I	37	3	0.0810811	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG	.	.	none		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		T	33517507	C	T	33517507	3	4	15	1	0	0	0	0	1	0	0	0	13351	565	20	2	1895	2	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	18579323	33517507	25611476	291	3911										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002412	36002412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccgccactgctgctgccactGctgctgccaccactgctgct	9	19	0	0	rs56743379|rs111543270		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:36002412G>A	ENST00000339686.3	-	5	995	c.819C>T	c.(817-819)agC>agT	p.S273S	DMKN_ENST00000451297.2_Silent_p.S273S|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000440396.1_Silent_p.S273S|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Silent_p.S273S|DMKN_ENST00000424570.2_Silent_p.S273S|DMKN_ENST00000447113.2_Silent_p.S273S|DMKN_ENST00000472252.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			tgctgccactgctgctgccac	0.657																																					p.S273S		Atlas-SNP	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.C819T						PASS	.						29	22	24					19																	36002412		2184	4248	6432	SO:0001819	synonymous_variant	93099	exon5			GCCACTGCTGCTG	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819C>T	19.37:g.36002412G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	36	4	0.111111	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	none		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36002412	G	A	36002412	2	1	15	1	0	0	0	0	0	0	0	1	4582	1310	46	2		2	DMKN	19	36002412	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	2484905	36002412	23126571	292	3912										
PRODH2	58510	hgsc.bcm.edu	37	chr19	36297486	36297486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctctgcatccctccccagccGctcgaatgtgtcctataggg	9	16	1	0	rs201263714		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:36297486G>A	ENST00000301175.3	-	8	1092	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	359					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCCAGCCGCTCGAATGTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17163	0.001		0.0	False		,,,				2504	0.0				p.R359W		Atlas-SNP	.											PRODH2,NS,carcinoma,+2,1	PRODH2	68	1	0			c.C1075T						scavenged	.						74	72	73					19																	36297486		2203	4300	6503	SO:0001583	missense	58510	exon8			CCAGCCGCTCGAA	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1075C>T	19.37:g.36297486G>A	ENSP00000301175:p.Arg359Trp	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	54	2	0.037037	NM_021232		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.749	0.920903	0.17982	.	.	ENSG00000250799	ENST00000301175	T	0.34667	1.35	4.82	2.67	0.31697	Proline dehydrogenase (1);	.	.	.	.	T	0.41558	0.1164	M	0.86953	2.85	0.21740	N	0.999563	B	0.22346	0.068	B	0.17722	0.019	T	0.39396	-0.9616	9	0.46703	T	0.11	.	7.3532	0.26704	0.0894:0.0:0.7427:0.1679	.	359	Q9UF12	PROD2_HUMAN	W	359	ENSP00000301175:R359W	ENSP00000301175:R359W	R	-	1	2	PRODH2	40989326	0.305000	0.24481	0.589000	0.28718	0.095000	0.18619	1.018000	0.30002	0.620000	0.30215	0.591000	0.81541	CGG	G|1.000;A|0.000	0.000	strong		0.622	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36297486	G	A	36297486	3	1	15	1	0	0	0	0	1	0	0	0	12549	1086	38	1	551	1	PRODH2	19	36297486	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	295074	36297486	22831497	293	3913										
CYP2A6	1548	hgsc.bcm.edu	37	chr19	41355765	41355765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaaggtggcttgctcgcctcGcccgctgaactcctcagcct	11	16	1	1	rs199545200		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:41355765G>A	ENST00000301141.5	-	2	321	c.301C>T	c.(301-303)Cga>Tga	p.R101*	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	101					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGCTCGCCTCGCCCGCTGAAC	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		18422	0.001		0.0	False		,,,				2504	0.0				p.R101X		Atlas-SNP	.											CYP2A6,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	CYP2A6	69	1	0			c.C301T	GRCh37	CM057912	CYP2A6	M		scavenged	.						68	65	66					19																	41355765		2203	4297	6500	SO:0001587	stop_gained	1548	exon2			CGCCTCGCCCGCT	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.301C>T	19.37:g.41355765G>A	ENSP00000301141:p.Arg101*	Somatic	306	4	0.0130719		WXS	Illumina HiSeq	Phase_I	344	5	0.0145349	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Nonsense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	20.8	4.055138	0.75960	.	.	ENSG00000255974	ENST00000301141	.	.	.	2.72	1.61	0.23674	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0179	0.30391	0.0:0.0:0.396:0.604	.	.	.	.	X	101	.	ENSP00000301141:R101X	R	-	1	2	CYP2A6	46047605	0.004000	0.15560	0.122000	0.21767	0.368000	0.29767	-0.012000	0.12699	0.289000	0.22422	0.185000	0.17295	CGA	G|1.000;A|0.000	0.000	strong		0.632	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		A	41355765	G	A	41355765	4	1	15	1	0	0	0	0	0	1	0	0	4162	1095	38	1	1215	1	CYP2A6	19	41355765	Nonsense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	5058279	41355765	17773218	294	3914										
CYP2A13	1553	hgsc.bcm.edu	37	chr19	41594954	41594954	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aggctgaggagttcagcgggCgaggcgagcaggccaccttc	17	11	1	1	rs72552266	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:41594954C>T	ENST00000330436.3	+	2	301	c.301C>T	c.(301-303)Cga>Tga	p.R101*		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	101			R -> Q (in allele CYP2A13*4). {ECO:0000269|PubMed:15618722}.		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTTCAGCGGGCGAGGCGAGCA	0.637													N|||	19	0.00379393	0.0	0.0058	5008	,	,		17843	0.001		0.0119	False		,,,				2504	0.002				p.R101X		Atlas-SNP	.											CYP2A13,caecum,carcinoma,-1,1	CYP2A13	90	1	0			c.C301T	GRCh37	CM032880	CYP2A13	M	rs72552266	scavenged	.						60	57	58					19																	41594954		2202	4276	6478	SO:0001587	stop_gained	1553	exon2			AGCGGGCGAGGCG	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.301C>T	19.37:g.41594954C>T	ENSP00000332679:p.Arg101*	Somatic	240	10	0.0416667		WXS	Illumina HiSeq	Phase_I	256	9	0.0351562	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Nonsense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	50	0.022893772893772892	25	0.0508130081300813	6	0.016574585635359115	1	0.0017482517482517483	18	0.023746701846965697	.	13.66	2.304807	0.40795	.	.	ENSG00000197838	ENST00000330436	.	.	.	3.49	2.42	0.29668	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9774	0.30164	0.1802:0.6446:0.1752:0.0	.	.	.	.	X	101	.	ENSP00000332679:R101X	R	+	1	2	CYP2A13	46286794	0.081000	0.21417	0.343000	0.25615	0.105000	0.19272	0.470000	0.22084	0.794000	0.33899	-0.572000	0.04151	CGA	C|0.985;T|0.015	0.015	strong		0.637	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41594954	C	T	41594954	4	4	15	1	0	0	0	0	0	1	0	0	4161	760	27	1	307	1	CYP2A13	19	41594954	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	239189	41594954	17534029	295	3915										
PSG3	5671	hgsc.bcm.edu	37	chr19	43243059	43243059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aattatttgaccatctactaCgtatgatgtaatgtaatggt	7	5	1	2	rs202155567		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:43243059C>T	ENST00000327495.5	-	2	431	c.247G>A	c.(247-249)Gta>Ata	p.V83I	PSG3_ENST00000595140.1_Missense_Mutation_p.V83I|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	83	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V83I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCATCTACTACGTATGATGTA	0.443																																					p.V83I		Atlas-SNP	.											PSG3,NS,carcinoma,0,1	PSG3	82	1	1	Substitution - Missense(1)	endometrium(1)	c.G247A						scavenged	.						314	300	305					19																	43243059		2203	4300	6503	SO:0001583	missense	5671	exon2			CTACTACGTATGA		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.247G>A	19.37:g.43243059C>T	ENSP00000332215:p.Val83Ile	Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	3.558	-0.090161	0.07053	.	.	ENSG00000221826	ENST00000327495	T	0.67345	-0.26	1.39	-2.79	0.05841	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51295	0.1666	L	0.43152	1.355	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.003;0.009	T	0.32025	-0.9922	9	0.33940	T	0.23	.	5.5385	0.17026	0.0:0.4218:0.0:0.5782	.	61;83	Q08266;Q16557	.;PSG3_HUMAN	I	83	ENSP00000332215:V83I	ENSP00000332215:V83I	V	-	1	0	PSG3	47934899	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.686000	0.05161	-0.961000	0.03609	-0.515000	0.04445	GTA	C|0.999;T|0.001	0.001	weak		0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43243059	C	T	43243059	3	4	15	1	0	0	0	0	1	0	0	0	12656	536	19	1	1059	1	PSG3	19	43243059	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1648105	43243059	15885924	296	3916										
PSG4	5672	hgsc.bcm.edu	37	chr19	43708388	43708388	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagttgtgggcggattccagAagtttaaaagtgatgctagg	14	5	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:43708388A>C	ENST00000405312.3	-	2	317	c.80T>G	c.(79-81)tTc>tGc	p.F27C	PSG4_ENST00000433626.2_Missense_Mutation_p.F27C|PSG4_ENST00000244295.9_Missense_Mutation_p.F27C	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	27					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGGATTCCAGAAGTTTAAAAG	0.468																																					p.X27X		Atlas-SNP	.											.	PSG4	129	.	0			c.G80G						PASS	.						107	121	116					19																	43708388		2144	4269	6413	SO:0001583	missense	5672	exon2			TTCCAGAAGTTTA		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.80T>G	19.37:g.43708388A>C	ENSP00000384770:p.Phe27Cys	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	190	74	0.389474	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	7.311	0.615088	0.14129	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.50813	1.16;0.73;1.87;3.24	1.65	0.446	0.16602	.	.	.	.	.	T	0.34193	0.0889	L	0.33624	1.015	0.09310	N	1	B;B;B	0.28324	0.207;0.154;0.012	B;B;B	0.33254	0.091;0.16;0.033	T	0.36962	-0.9726	9	0.72032	D	0.01	.	3.5161	0.07726	0.6473:0.0:0.0:0.3527	.	27;27;27	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	C	27;27;27;43	ENSP00000244295:F27C;ENSP00000384770:F27C;ENSP00000387864:F27C;ENSP00000388134:F43C	ENSP00000244295:F27C	F	-	2	0	PSG4	48400228	0.058000	0.20735	0.279000	0.24732	0.035000	0.12851	-0.188000	0.09642	0.069000	0.16605	0.145000	0.16022	TTC	.	.	none		0.468	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		C	43708388	A	C	43708388	3	2	15	1	0	0	0	0	1	0	0	0	12657	246	9	5	1199	5	PSG4	19	43708388	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	465329	43708388	15420595	297	3917										
ZNF223	7766	hgsc.bcm.edu	37	chr19	44570830	44570831	+	Frame_Shift_Del	DEL	AG	AG	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaacatcagagaattcacacAggggagaagccattcaaatg					rs568496344	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:44570830_44570831delAG	ENST00000434772.3	+	5	1104_1105	c.849_850delAG	c.(847-852)acagggfs	p.G284fs	ZNF223_ENST00000591793.1_Frame_Shift_Del_p.G394fs	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	284					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)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAATTCACACAGGGGAGAAGCC	0.421														7	0.00139776	0.0	0.0	5008	,	,		22779	0.0069		0.0	False		,,,				2504	0.0				p.283_283del		Pindel,Atlas-Indel	.											.	ZNF223	61	.	0			c.848_849del						PASS	.																																			SO:0001589	frameshift_variant	7766	exon5			.	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.849_850delAG	19.37:g.44570830_44570831delAG	ENSP00000401947:p.Gly284fs	Somatic	91	.	.		WXS	Illumina HiSeq	Phase_I	226	39	0.173	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Frame_Shift_Del	DEL	ENST00000434772.3	37	CCDS12635.1																																																																																			.	.	none		0.421	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			-	44570831	AG	-	44570830	7	5	15	1	0	1	0	1	0	0	0	0	17774	175	7	0	863	0	ZNF223	19	44570830	Frame_Shift_Del	DEL	AG	TCGA-FF-8061-01A-11D-2210-10	862442	44570830	14558153	298	3918										
ZNF223	7766	hgsc.bcm.edu	37	chr19	44571010	44571010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	atccacacaggagagaaaccAtataattgtaaagaatgtgg	9	6	0	2	rs141349301		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:44571010A>G	ENST00000434772.3	+	5	1284	c.1029A>G	c.(1027-1029)ccA>ccG	p.P343P	ZNF223_ENST00000591793.1_Silent_p.P453P	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	343					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)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAGAGAAACCATATAATTGTA	0.438																																					p.P343P		Atlas-SNP	.											.	ZNF223	61	.	0			c.A1029G						PASS	.						102	106	105					19																	44571010		2203	4300	6503	SO:0001819	synonymous_variant	7766	exon5			GAAACCATATAAT	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1029A>G	19.37:g.44571010A>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	68	15	0.220588	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																			A|1.000;T|0.000	.	alt		0.438	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			G	44571010	A	G	44571010	2	3	15	1	0	0	0	0	0	0	0	1	17774	204	8	2		2	ZNF223	19	44571010	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	180	44571010	14557973	299	3919										
ZFP112	7771	hgsc.bcm.edu	37	chr19	44832010	44832010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacatttgtatggtttccctCctgtgtgaaccctccgatgt	8	12	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:44832010C>T	ENST00000337401.4	-	5	2406	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	ZNF112_ENST00000354340.4_Missense_Mutation_p.G767E|ZNF112_ENST00000536500.1_Missense_Mutation_p.G790E	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGGTTTCCCTCCTGTGTGAAC	0.483																																					p.G773E		Atlas-SNP	.											ZFP112_ENST00000337401,NS,carcinoma,+1,2	ZFP112	219	2	0			c.G2318A						scavenged	.						225	212	216					19																	44832010		2203	4300	6503	SO:0001583	missense	7771	exon5			TTCCCTCCTGTGT	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.2318G>A	19.37:g.44832010C>T	ENSP00000337081:p.Gly773Glu	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492433	0.64074	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.25749	1.78;1.78;1.78	5.18	4.12	0.48240	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33364	N	0.004987	T	0.42675	0.1213	L	0.48362	1.52	0.31843	N	0.623278	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68621	0.959;0.931;0.959	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.2857	14.7597	0.69596	0.0:0.854:0.146:0.0	.	772;790;773	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	E	773;773;767;790;772	ENSP00000337081:G773E;ENSP00000346305:G767E;ENSP00000441990:G790E	ENSP00000253426:G772E	G	-	2	0	ZNF285	49523850	0.070000	0.21116	0.938000	0.37757	0.994000	0.84299	1.896000	0.39789	1.282000	0.44496	0.563000	0.77884	GGA	.	.	none		0.483	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		T	44832010	C	T	44832010	3	4	15	1	0	0	0	0	1	0	0	0	17635	855	30	2	427	2	ZFP112	19	44832010	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	261000	44832010	14296973	300	3920										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891010	44891010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgtgaagaacagagctatacGcaaaatcctttccacacaca	6	11	0	3	rs150792548	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																					p.A466G		Atlas-SNP	.											ZNF285,NS,carcinoma,+1,2	ZNF285	86	2	1	Substitution - Missense(1)	skin(1)	c.C1397G						scavenged	.						83	84	83					19																	44891010		2203	4300	6503	SO:0001583	missense	26974	exon4			CTATACGCAAAAT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	119	7	0.0588235	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG	A|0.002;C|0.002;G|0.995	0.002	strong		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891010	G	C	44891010	3	2	15	1	0	0	0	0	1	0	0	0	17819	1087	38	4	379	4	ZNF285	19	44891010	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	59000	44891010	14237973	301	3921										
SNRPD2	6633	hgsc.bcm.edu	37	chr19	46191649	46191649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aggacccagcactcacctatCgaaggccttcacgcggccca	9	17	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:46191649C>T	ENST00000342669.3	-	2	622	c.178G>A	c.(178-180)Gat>Aat	p.D60N	SNRPD2_ENST00000588599.1_Missense_Mutation_p.D50N|SNRPD2_ENST00000391932.3_Missense_Mutation_p.D50N|SNRPD2_ENST00000588301.1_Missense_Mutation_p.D60N|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Missense_Mutation_p.D60N|SNRPD2_ENST00000587367.1_Missense_Mutation_p.D50N	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	60					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACTCACCTATCGAAGGCCTTC	0.562																																					p.D60N		Atlas-SNP	.											.	SNRPD2	7	.	0			c.G178A						PASS	.						100	87	92					19																	46191649		2203	4300	6503	SO:0001583	missense	6633	exon2			ACCTATCGAAGGC		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.178G>A	19.37:g.46191649C>T	ENSP00000342374:p.Asp60Asn	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	209	80	0.382775	NM_004597	A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631630	0.87660	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	T;T	0.80480	-1.38;-1.38	5.85	5.85	0.93711	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	H	0.95574	3.69	0.80722	D	1	P	0.41710	0.76	B	0.33799	0.17	D	0.89638	0.3860	10	0.87932	D	0	.	17.6515	0.88165	0.0:1.0:0.0:0.0	.	60	P62316	SMD2_HUMAN	N	60;50	ENSP00000342374:D60N;ENSP00000375798:D50N	ENSP00000342374:D60N	D	-	1	0	SNRPD2	50883489	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	5.436000	0.66538	2.767000	0.95098	0.655000	0.94253	GAT	.	.	none		0.562	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		T	46191649	C	T	46191649	3	4	15	1	0	0	0	0	1	0	0	0	14865	884	31	1	186	1	SNRPD2	19	46191649	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1300639	46191649	12937334	302	3922										
PRKD2	25865	hgsc.bcm.edu	37	chr19	47193879	47193879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gcagaatggccacttcattcCggagctggctctcctgcttg	11	13	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:47193879C>T	ENST00000291281.4	-	13	2012	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	PRKD2_ENST00000600194.1_Missense_Mutation_p.R439Q|PRKD2_ENST00000433867.1_Missense_Mutation_p.R596Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.R439Q|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.R596Q			Q9BZL6	KPCD2_HUMAN	protein kinase D2	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACTTCATTCCGGAGCTGGCT	0.572																																					p.R596Q		Atlas-SNP	.											PRKD2,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,1	PRKD2	94	1	0			c.G1787A						scavenged	.						118	104	109					19																	47193879		2203	4300	6503	SO:0001583	missense	25865	exon13			TCATTCCGGAGCT	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1787G>A	19.37:g.47193879C>T	ENSP00000291281:p.Arg596Gln	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_016457	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389220	0.95988	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.82803	-1.65;-1.65	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073143	0.51477	D	0.000092	D	0.84088	0.5395	N	0.13299	0.325	0.50313	D	0.999864	P;D	0.71674	0.891;0.998	B;D	0.73708	0.398;0.981	D	0.86955	0.2088	10	0.62326	D	0.03	-26.3847	17.5028	0.87736	0.0:1.0:0.0:0.0	.	596;596	E7ER94;Q9BZL6	.;KPCD2_HUMAN	Q	596	ENSP00000291281:R596Q;ENSP00000393978:R596Q	ENSP00000291281:R596Q	R	-	2	0	PRKD2	51885719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.499000	0.84300	0.650000	0.86243	CGG	.	.	none		0.572	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		T	47193879	C	T	47193879	3	4	15	1	0	0	0	0	1	0	0	0	12519	652	23	1	873	1	PRKD2	19	47193879	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1002230	47193879	11935104	303	3923										
NOSIP	51070	hgsc.bcm.edu	37	chr19	50063941	50063941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggtgcagttcttgccatgcCgcgtcatcctagggaggaag	14	11	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:50063941C>T	ENST00000596358.1	-	2	66	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	NOSIP_ENST00000391853.3_Missense_Mutation_p.R3Q|NOSIP_ENST00000339093.3_Missense_Mutation_p.R3Q	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	3					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTGCCATGCCGCGTCATCCT	0.632																																					p.R3Q		Atlas-SNP	.											.	NOSIP	28	.	0			c.G8A						PASS	.						85	60	68					19																	50063941		2203	4299	6502	SO:0001583	missense	51070	exon3			CCATGCCGCGTCA	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.8G>A	19.37:g.50063941C>T	ENSP00000470034:p.Arg3Gln	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	59	18	0.305085	NM_015953	Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315578	0.95655	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.78595	-1.19;-1.19	5.41	2.1	0.27182	.	0.000000	0.85682	D	0.000000	D	0.87006	0.6070	M	0.86805	2.84	0.45718	D	0.998623	D	0.89917	1.0	D	0.85130	0.997	D	0.85312	0.1079	10	0.87932	D	0	-23.987	7.983	0.30194	0.0:0.7195:0.1321:0.1484	.	3	Q9Y314	NOSIP_HUMAN	Q	3	ENSP00000343497:R3Q;ENSP00000375726:R3Q	ENSP00000343497:R3Q	R	-	2	0	NOSIP	54755753	1.000000	0.71417	0.003000	0.11579	0.601000	0.36947	6.534000	0.73833	0.268000	0.21939	0.655000	0.94253	CGG	.	.	none		0.632	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			T	50063941	C	T	50063941	3	4	15	1	0	0	0	0	1	0	0	0	10545	652	23	1	929	1	NOSIP	19	50063941	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2870062	50063941	9065042	304	3924										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51920119	51920119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gggggtggacattcctcaaaGgcccagttaaacacacagat	11	10	1	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:51920119G>A	ENST00000339313.5	-	3	623	c.507C>T	c.(505-507)gcC>gcT	p.A169A	CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000525998.1_Silent_p.A169A|SIGLEC10_ENST00000353836.5_Silent_p.A169A|SIGLEC10_ENST00000356298.5_Silent_p.A169A|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	169	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATTCCTCAAAGGCCCAGTTAA	0.597																																					p.A169A		Atlas-SNP	.											SIGLEC10,NS,carcinoma,-1,1	SIGLEC10	112	1	0			c.C507T						scavenged	.						98	99	98					19																	51920119		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon3			CTCAAAGGCCCAG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.507C>T	19.37:g.51920119G>A		Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	198	8	0.040404	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			.	.	none		0.597	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51920119	G	A	51920119	2	1	15	1	0	0	0	0	0	0	0	1	14306	987	35	2		2	SIGLEC10	19	51920119	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	1856178	51920119	7208864	305	3925										
ZNF761	147804	hgsc.bcm.edu	37	chr19	53950528	53950528	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caaaggagtcagggatggctTtttctcaggtgagatgatat	13	5	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:53950528T>G	ENST00000424846.3	+	0	2920				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		AGGGATGGCTTTTTCTCAGGT	0.443																																					p.F3V		Atlas-SNP	.											.	ZNF761	104	.	0			c.T7G						PASS	.						131	125	127					19																	53950528		876	1991	2867			388561	exon4			ATGGCTTTTTCTC			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53950528T>G		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	34	12	0.352941	NM_001008401		Missense_Mutation	SNP	ENST00000424846.3	37																																																																																				.	.	none		0.443	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		G	53950528	T	G	53950528	1	3	15	0	1	0	0	0	0	0	0	0	18133	1841	64	5		5	ZNF761	19	53950528	RNA	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2030409	53950528	5178455	306	3926										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56423386	56423386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	caatgcaaagtatcttccagTtctcttgctatgtttttatt	5	8	2	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr19:56423386T>C	ENST00000342929.3	-	5	1796	c.1797A>G	c.(1795-1797)gaA>gaG	p.E599E	NLRP13_ENST00000588751.1_Silent_p.E599E	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	599							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TATCTTCCAGTTCTCTTGCTA	0.398																																					p.E599E		Atlas-SNP	.											NLRP13,NS,carcinoma,-2,3	NLRP13	220	3	0			c.A1797G						scavenged	.						83	85	84					19																	56423386		2203	4300	6503	SO:0001819	synonymous_variant	126204	exon5			TTCCAGTTCTCTT	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1797A>G	19.37:g.56423386T>C		Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	114	2	0.0175439	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			.	.	none		0.398	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		C	56423386	T	C	56423386	2	2	15	1	0	0	0	0	0	0	0	1	10475	1722	60	2		2	NLRP13	19	56423386	Silent	SNP	T	TCGA-FF-8061-01A-11D-2210-10	2472858	56423386	2705597	307	3927										
ZNF343	79175	hgsc.bcm.edu	37	chr20	2473385	2473385	+	Frame_Shift_Del	DEL	T	T	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	taattctccagcatcacttcTttgtatagattcctctgctc							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:2473385delT	ENST00000278772.4	-	5	751	c.264delA	c.(262-264)aaafs	p.K88fs	RP4-734P14.4_ENST00000461548.1_Frame_Shift_Del_p.K88fs|ZNF343_ENST00000358413.2_Frame_Shift_Del_p.K88fs|ZNF343_ENST00000381253.1_Frame_Shift_Del_p.K88fs	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GCATCACTTCTTTGTATAGAT	0.408																																					p.E89fs		Atlas-Indel	.											ZNF343,NS,carcinoma,0,1	ZNF343	47	1	0			c.265delG						PASS	.						234	216	222					20																	2473385		2203	4300	6503	SO:0001589	frameshift_variant	79175	exon5			.	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.264delA	20.37:g.2473385delT	ENSP00000278772:p.Lys88fs	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	116	15	0.12931	NM_024325	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Frame_Shift_Del	DEL	ENST00000278772.4	37	CCDS13028.1																																																																																			.	.	none		0.408	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		-	2473385	T	-	2473385	7	5	15	1	0	1	0	1	0	0	0	0	17855	1606	56	0	1543	0	ZNF343	20	2473385	Frame_Shift_Del	DEL	T	TCGA-FF-8061-01A-11D-2210-10		2473385	60552135	308	3928										
ESF1	51575	hgsc.bcm.edu	37	chr20	13756715	13756715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cttcatcctcctcttcatctTcatcctcctcttcatcatct	0	18	9	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:13756715T>C	ENST00000202816.1	-	3	946	c.839A>G	c.(838-840)gAa>gGa	p.E280G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	280	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ctcttcatcttcatcctcctc	0.403																																					p.E280G		Atlas-SNP	.											ESF1,NS,carcinoma,+1,1	ESF1	77	1	0			c.A839G						scavenged	.						255	196	216					20																	13756715		2203	4300	6503	SO:0001583	missense	51575	exon3			TCATCTTCATCCT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.839A>G	20.37:g.13756715T>C	ENSP00000202816:p.Glu280Gly	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	194	4	0.0206186	NM_001276380	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	7.974	0.749628	0.15778	.	.	ENSG00000089048	ENST00000202816	T	0.27104	1.69	2.56	1.45	0.22620	.	1.082220	0.07098	N	0.839908	T	0.12092	0.0294	N	0.08118	0	0.25110	N	0.990722	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.27785	T	0.31	.	4.2752	0.10806	0.0:0.166:0.0:0.834	.	280	Q9H501	ESF1_HUMAN	G	280	ENSP00000202816:E280G	ENSP00000202816:E280G	E	-	2	0	ESF1	13704715	0.129000	0.22400	0.003000	0.11579	0.323000	0.28346	1.185000	0.32065	0.433000	0.26313	0.172000	0.16884	GAA	.	.	none		0.403	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		C	13756715	T	C	13756715	3	2	15	1	0	0	0	0	1	0	0	0	5251	1783	62	2	1764	2	ESF1	20	13756715	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	11283330	13756715	49268805	309	3929										
CST2	1470	hgsc.bcm.edu	37	chr20	23805952	23805952	+	Silent	SNP	G	G	C													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tcgaagaagtaattcaccccGcccacgatctacacacatga					rs146039211	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:23805952G>C	ENST00000304725.2	-	2	307	c.237C>G	c.(235-237)ggC>ggG	p.G79G		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	79					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						AATTCACCCCGCCCACGATCT	0.542																																					p.G79G	Pancreas(193;496 3017 22514 29918)	Atlas-SNP	.											CST2,NS,adenoma,-1,1	CST2	39	1	0			c.C237G						scavenged	.						226	176	193					20																	23805952		2203	4300	6503	SO:0001819	synonymous_variant	1470	exon2			CACCCCGCCCACG	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.237C>G	20.37:g.23805952G>C		Somatic	109	4	0.0366972		WXS	Illumina HiSeq	Phase_I	114	5	0.0438596	NM_001322	Q9UCQ7	Silent	SNP	ENST00000304725.2	37	CCDS13161.1																																																																																			G|0.999;A|0.001	.	alt		0.542	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			C	23805952	G	C	23805952	2	2	15	1	0	0	0	0	0	0	0	1	3972	1074	38	4		4	CST2	20	23805952	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	10049237	23805952	39219568	310	3930	65	2								
CST2	1470	hgsc.bcm.edu	37	chr20	23805955	23805955	+	Silent	SNP	C	C	A													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagaagtaattcaccccgccCacgatctacacacatgagaa							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:23805955C>A	ENST00000304725.2	-	2	304	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	78					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCACCCCGCCCACGATCTACA	0.537																																					p.V78V	Pancreas(193;496 3017 22514 29918)	Atlas-SNP	.											CST2,colon,carcinoma,-2,1	CST2	39	1	0			c.G234T						scavenged	.						221	172	189					20																	23805955		2203	4300	6503	SO:0001819	synonymous_variant	1470	exon2			CCCGCCCACGATC	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.234G>T	20.37:g.23805955C>A		Somatic	110	3	0.0272727		WXS	Illumina HiSeq	Phase_I	110	4	0.0363636	NM_001322	Q9UCQ7	Silent	SNP	ENST00000304725.2	37	CCDS13161.1																																																																																			.	.	none		0.537	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			A	23805955	C	A	23805955	2	1	15	1	0	0	0	0	0	0	0	1	3972	581	21	4		4	CST2	20	23805955	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3	23805955	39219565	311	3931	65	2								
ZNF337	26152	hgsc.bcm.edu	37	chr20	25656946	25656946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gacttattagtatagcctcgCccacactccttgcacacaaa	5	14	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:25656946C>T	ENST00000376436.1	-	4	1517	c.978G>A	c.(976-978)ggG>ggA	p.G326G	ZNF337_ENST00000538750.1_Silent_p.G294G|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Silent_p.G326G|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	326					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATAGCCTCGCCCACACTCCT	0.483																																					p.G326G		Atlas-SNP	.											.	ZNF337	65	.	0			c.G978A						PASS	.						105	100	102					20																	25656946		2203	4300	6503	SO:0001819	synonymous_variant	26152	exon5			GCCTCGCCCACAC		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.978G>A	20.37:g.25656946C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	106	8	0.0754717	NM_015655	B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	CCDS13174.1																																																																																			.	.	none		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			T	25656946	C	T	25656946	2	4	15	1	0	0	0	0	0	0	0	1	17850	726	26	2		2	ZNF337	20	25656946	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1850991	25656946	37368574	312	3932										
BPI	671	hgsc.bcm.edu	37	chr20	36936026	36936026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gaagaggatcaagattcctgActactcagacagctttaaga	9	8	2	5	rs572225651		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:36936026A>G	ENST00000262865.4	+	2	289	c.200A>G	c.(199-201)gAc>gGc	p.D67G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	67					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.D67G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAGATTCCTGACTACTCAGAC	0.537													A|||	1	0.000199681	0.0	0.0	5008	,	,		21828	0.0		0.0	False		,,,				2504	0.001				p.D67G		Atlas-SNP	.											BPI,NS,carcinoma,0,1	BPI	67	1	1	Substitution - Missense(1)	lung(1)	c.A200G						scavenged	.						120	114	116					20																	36936026		2203	4300	6503	SO:0001583	missense	671	exon2			TTCCTGACTACTC	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.200A>G	20.37:g.36936026A>G	ENSP00000262865:p.Asp67Gly	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	192	4	0.0208333	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451243	0.43531	.	.	ENSG00000101425	ENST00000262865	T	0.08896	3.04	4.21	0.623	0.17654	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.336230	0.04656	N	0.408012	T	0.27731	0.0682	M	0.87381	2.88	0.09310	N	1	P	0.46327	0.876	P	0.52514	0.701	T	0.32798	-0.9893	10	0.72032	D	0.01	-8.6667	10.9311	0.47217	0.8134:0.1866:0.0:0.0	.	67	P17213	BPI_HUMAN	G	67	ENSP00000262865:D67G	ENSP00000262865:D67G	D	+	2	0	BPI	36369440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.771000	0.26633	0.074000	0.16767	0.533000	0.62120	GAC	.	.	none		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		G	36936026	A	G	36936026	3	3	15	1	0	0	0	0	1	0	0	0	1490	275	10	2	206	2	BPI	20	36936026	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	11279080	36936026	26089494	313	3933										
ADNP	23394	hgsc.bcm.edu	37	chr20	49509225	49509225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagagtgatagttgaggcggTcatgttgctggtatacacac	13	7	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:49509225T>C	ENST00000396029.3	-	5	2593	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	ADNP_ENST00000396032.3_Missense_Mutation_p.T676A|ADNP_ENST00000371602.4_Missense_Mutation_p.T676A|ADNP_ENST00000349014.3_Missense_Mutation_p.T676A	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	676					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTGAGGCGGTCATGTTGCTG	0.473																																					p.T676A		Atlas-SNP	.											ADNP,NS,carcinoma,+2,1	ADNP	106	1	0			c.A2026G						scavenged	.						159	145	150					20																	49509225		2203	4300	6503	SO:0001583	missense	23394	exon5			AGGCGGTCATGTT	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2026A>G	20.37:g.49509225T>C	ENSP00000379346:p.Thr676Ala	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	177	2	0.0112994	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484379	0.63962	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.64404	1.975	0.58432	D	0.999996	D	0.63880	0.993	D	0.70227	0.968	T	0.79090	-0.1946	9	0.87932	D	0	-14.7065	16.6245	0.84952	0.0:0.0:0.0:1.0	.	676	Q9H2P0	ADNP_HUMAN	A	676	.	ENSP00000342905:T676A	T	-	1	0	ADNP	48942632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.848000	0.62874	2.323000	0.78572	0.528000	0.53228	ACC	.	.	none		0.473	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		C	49509225	T	C	49509225	3	2	15	1	0	0	0	0	1	0	0	0	323	1667	58	2	1286	2	ADNP	20	49509225	Missense_Mutation	SNP	T	TCGA-FF-8061-01A-11D-2210-10	12573199	49509225	13516295	314	3934										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60887468	60887468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgctcaccagcaggtcggcGgtgcagccggcgctcacgcc	14	17	2	0	rs16985970	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:60887468G>A	ENST00000252999.3	-	68	9414	c.9348C>T	c.(9346-9348)acC>acT	p.T3116T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3116					angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCAGGTCGGCGGTGCAGCCGG	0.697													.|||	433	0.0864617	0.0204	0.0331	5008	,	,		15056	0.2054		0.0775	False		,,,				2504	0.1002				p.T3116T		Atlas-SNP	.											.	LAMA5	268	.	0			c.C9348T						PASS	.			104,4266		0,104,2081	26	26	26		9348	-8.5	0	20	dbSNP_123	26	681,7891		33,615,3638	no	coding-synonymous	LAMA5	NM_005560.3		33,719,5719	AA,AG,GG		7.9445,2.3799,6.0655		3116/3696	60887468	785,12157	2185	4286	6471	SO:0001819	synonymous_variant	3911	exon68			GTCGGCGGTGCAG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9348C>T	20.37:g.60887468G>A		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			G|0.928;A|0.072	0.072	strong		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60887468	G	A	60887468	2	1	15	1	0	0	0	0	0	0	0	1	8609	1103	39	1		1	LAMA5	20	60887468	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	11378243	60887468	2138052	315	3935										
SLC17A9	63910	hgsc.bcm.edu	37	chr20	61594979	61594979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgcagcctgctccttcttcAtcctcctctcctggctgccc	6	20	3	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr20:61594979A>G	ENST00000370351.4	+	7	900	c.769A>G	c.(769-771)Atc>Gtc	p.I257V	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.I251V	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	257					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTCCTTCTTCATCCTCCTCTC	0.677																																					p.I257V		Atlas-SNP	.											.	SLC17A9	54	.	0			c.A769G						PASS	.						54	59	58					20																	61594979		2148	4249	6397	SO:0001583	missense	63910	exon7			TTCTTCATCCTCC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.769A>G	20.37:g.61594979A>G	ENSP00000359376:p.Ile257Val	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	131	63	0.480916	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	a	0.269	-0.994082	0.02145	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.59224	0.28;0.28	4.86	2.62	0.31277	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.162450	0.52532	N	0.000066	T	0.40247	0.1109	N	0.20574	0.59	0.28715	N	0.903358	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.005;0.005	T	0.22626	-1.0211	10	0.30078	T	0.28	.	11.9672	0.53042	0.9221:0.0:0.0779:0.0	.	277;257;251	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	V	257;251	ENSP00000359376:I257V;ENSP00000359374:I251V	ENSP00000359374:I251V	I	+	1	0	SLC17A9	61065424	1.000000	0.71417	0.996000	0.52242	0.054000	0.15201	2.976000	0.49289	0.231000	0.21079	-0.741000	0.03529	ATC	.	.	none		0.677	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		G	61594979	A	G	61594979	3	3	15	1	0	0	0	0	1	0	0	0	14424	217	8	2	795	2	SLC17A9	20	61594979	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	707511	61594979	1430541	316	3936										
ADAMTS5	11096	hgsc.bcm.edu	37	chr21	28327094	28327094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agtgaaggctgcgtggaggcCatcgtcttcaatcacagcac	12	11	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:28327094C>T	ENST00000284987.5	-	2	1322	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	401	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGTGGAGGCCATCGTCTTCA	0.512																																					p.G401S	Esophageal Squamous(53;683 1080 10100 14424 45938)	Atlas-SNP	.											.	ADAMTS5	184	.	0			c.G1201A						PASS	.						123	112	116					21																	28327094		2203	4300	6503	SO:0001583	missense	11096	exon2			GGAGGCCATCGTC	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1201G>A	21.37:g.28327094C>T	ENSP00000284987:p.Gly401Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	58	14	0.241379	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419488	0.96111	.	.	ENSG00000154736	ENST00000284987	D	0.86694	-2.16	5.05	5.05	0.67936	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93653	0.6975	10	0.87932	D	0	.	18.5978	0.91235	0.0:1.0:0.0:0.0	.	401	Q9UNA0	ATS5_HUMAN	S	401	ENSP00000284987:G401S	ENSP00000284987:G401S	G	-	1	0	ADAMTS5	27248965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.641000	0.89580	0.557000	0.71058	GGC	.	.	none		0.512	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			T	28327094	C	T	28327094	3	4	15	1	0	0	0	0	1	0	0	0	269	594	21	2	1619	2	ADAMTS5	21	28327094	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		28327094	19802801	317	3937										
KRTAP6-3	337968	hgsc.bcm.edu	37	chr21	31964914	31964914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tacggaggcctgggctttggCtatggaggcctggactgtgg	18	8	0	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:31964914C>T	ENST00000391624.1	+	1	156	c.129C>T	c.(127-129)ggC>ggT	p.G43G	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	43						intermediate filament (GO:0005882)		p.G43G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						tgggctttggctatggaggcc	0.627																																					p.G50G		Atlas-SNP	.											KRTAP6-3,NS,carcinoma,0,1	KRTAP6-3	30	1	1	Substitution - coding silent(1)	lung(1)	c.C150T						scavenged	.						84	94	91					21																	31964914		2203	4300	6503	SO:0001819	synonymous_variant	337968	exon1			CTTTGGCTATGGA	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"Keratin associated proteins"	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.129C>T	21.37:g.31964914C>T		Somatic	155	2	0.0129032		WXS	Illumina HiSeq	Phase_I	169	4	0.0236686	NM_181605	A4IF26	Silent	SNP	ENST00000391624.1	37																																																																																				.	.	none		0.627	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		T	31964914	C	T	31964914	2	4	15	1	0	0	0	0	0	0	0	1	8571	784	28	2		2	KRTAP6-3	21	31964914	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3637820	31964914	16164981	318	3938										
ITSN1	6453	hgsc.bcm.edu	37	chr21	35190669	35190669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaaaatgatgtcatcaccgtCctggaacagcaagacatgtg	9	9	2	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:35190669C>T	ENST00000381318.3	+	23	3114	c.2826C>T	c.(2824-2826)gtC>gtT	p.V942V	ITSN1_ENST00000399355.2_Silent_p.V942V|ITSN1_ENST00000381291.4_Silent_p.V942V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Silent_p.V900V|ITSN1_ENST00000399349.1_Silent_p.V937V|ITSN1_ENST00000399352.1_Silent_p.V937V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Silent_p.V937V|ITSN1_ENST00000399367.3_Silent_p.V937V|ITSN1_ENST00000381285.4_Silent_p.V942V|ITSN1_ENST00000437442.2_Silent_p.V937V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	942	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCATCACCGTCCTGGAACAGC	0.453																																					p.V942V		Atlas-SNP	.											.	ITSN1	166	.	0			c.C2826T						PASS	.						176	169	171					21																	35190669		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon23			CACCGTCCTGGAA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2826C>T	21.37:g.35190669C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	142	60	0.422535	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.	.	none		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		T	35190669	C	T	35190669	2	4	15	1	0	0	0	0	0	0	0	1	7926	842	30	2		2	ITSN1	21	35190669	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3225755	35190669	12939226	319	3939										
MORC3	23515	hgsc.bcm.edu	37	chr21	37734510	37734510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aaaattcaggatcagacaacCggaaatgatccctcgggtaa	9	9	2	2	rs541408590	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:37734510C>T	ENST00000400485.1	+	13	1512	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	479					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATCAGACAACCGGAAATGATC	0.378													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14350	0.0		0.0	False		,,,				2504	0.001				p.P479L		Atlas-SNP	.											MORC3,caecum,carcinoma,0,1	MORC3	78	1	0			c.C1436T						scavenged	.						60	59	59					21																	37734510		1808	4059	5867	SO:0001583	missense	23515	exon13			GACAACCGGAAAT	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1436C>T	21.37:g.37734510C>T	ENSP00000383333:p.Pro479Leu	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	188	4	0.0212766	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862478	0.17178	.	.	ENSG00000159256	ENST00000400485	T	0.13307	2.6	5.23	0.265	0.15612	.	1.757550	0.02337	N	0.074516	T	0.08846	0.0219	N	0.12569	0.235	0.36526	D	0.870468	B	0.02656	0.0	B	0.04013	0.001	T	0.21759	-1.0236	10	0.27785	T	0.31	0.4698	7.5116	0.27577	0.0:0.4074:0.0:0.5926	.	479	Q14149	MORC3_HUMAN	L	479	ENSP00000383333:P479L	ENSP00000383333:P479L	P	+	2	0	MORC3	36656380	0.001000	0.12720	0.484000	0.27391	0.866000	0.49608	-1.225000	0.02956	0.196000	0.20367	0.563000	0.77884	CCG	.	.	none		0.378	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		T	37734510	C	T	37734510	3	4	15	1	0	0	0	0	1	0	0	0	9703	652	23	1	1486	1	MORC3	21	37734510	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2543841	37734510	10395385	320	3940										
DSCAM	1826	hgsc.bcm.edu	37	chr21	41465696	41465696	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ttcactgctgttgcctcttcCggctgaagtaacagccacca	8	14	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:41465696C>A	ENST00000400454.1	-	21	4279	c.3802G>T	c.(3802-3804)Gga>Tga	p.G1268*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCCTCTTCCGGCTGAAGTA	0.493																																					p.G1268X	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											DSCAM,NS,carcinoma,+1,1	DSCAM	347	1	0			c.G3802T						scavenged	.						67	64	65					21																	41465696		1963	4161	6124	SO:0001587	stop_gained	1826	exon21			CTCTTCCGGCTGA	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3802G>T	21.37:g.41465696C>A	ENSP00000383303:p.Gly1268*	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	122	3	0.0245902	NM_001271534	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	42	9.217036	0.99103	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7356	0.91753	0.0:1.0:0.0:0.0	.	.	.	.	X	1268;1020	.	ENSP00000383303:G1268X	G	-	1	0	DSCAM	40387566	1.000000	0.71417	0.763000	0.31416	0.875000	0.50365	7.726000	0.84824	2.415000	0.81967	0.467000	0.42956	GGA	.	.	none		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41465696	C	A	41465696	4	1	15	1	0	0	0	0	0	1	0	0	4768	661	23	4	2288	4	DSCAM	21	41465696	Nonsense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3731186	41465696	6664199	321	3941										
RSPH1	89765	hgsc.bcm.edu	37	chr21	43913086	43913086	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cggttctgacctggccatgtCttttaccgaattcgtagctc	9	12	2	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:43913086C>G	ENST00000291536.3	-	2	325	c.158G>C	c.(157-159)aGa>aCa	p.R53T	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	53					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R53I(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTGGCCATGTCTTTTACCGAA	0.488																																					p.R53T	Esophageal Squamous(23;63 706 6286 10288 12913)	Atlas-SNP	.											RSPH1,rectum,carcinoma,0,1	RSPH1	36	1	1	Substitution - Missense(1)	large_intestine(1)	c.G158C						scavenged	.						245	211	222					21																	43913086		2203	4300	6503	SO:0001583	missense	89765	exon2			CCATGTCTTTTAC	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.158G>C	21.37:g.43913086C>G	ENSP00000291536:p.Arg53Thr	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	154	3	0.0194805	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485978	0.84854	.	.	ENSG00000160188	ENST00000291536	T	0.59906	0.23	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79215	-0.1895	10	0.19147	T	0.46	.	17.868	0.88801	0.0:1.0:0.0:0.0	.	53	Q8WYR4	RSPH1_HUMAN	T	53	ENSP00000291536:R53T	ENSP00000291536:R53T	R	-	2	0	RSPH1	42786155	0.999000	0.42202	0.953000	0.39169	0.912000	0.54170	6.691000	0.74573	2.284000	0.76573	0.462000	0.41574	AGA	.	.	none		0.488	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			G	43913086	C	G	43913086	3	3	15	1	0	0	0	0	1	0	0	0	13702	913	32	4	803	4	RSPH1	21	43913086	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	2447390	43913086	4216809	322	3942										
C21orf2	755	hgsc.bcm.edu	37	chr21	45753031	45753031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cacagcacccgcagacgcggCagccccttcaggtagaagag	12	15	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:45753031C>T	ENST00000339818.4	-	4	465	c.258G>A	c.(256-258)ctG>ctA	p.L86L	C21orf2_ENST00000397956.3_Silent_p.L86L|C21orf2_ENST00000325223.7_Silent_p.L86L|C21orf2_ENST00000496321.1_5'UTR|AP001062.7_ENST00000448927.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	86					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GCAGACGCGGCAGCCCCTTCA	0.697																																					p.L86L		Atlas-SNP	.											.	C21orf2	10	.	0			c.G258A						PASS	.						18	20	20					21																	45753031		2201	4295	6496	SO:0001819	synonymous_variant	755	exon4			ACGCGGCAGCCCC	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.258G>A	21.37:g.45753031C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Silent	SNP	ENST00000339818.4	37	CCDS13709.1																																																																																			.	.	none		0.697	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		T	45753031	C	T	45753031	2	4	15	1	0	0	0	0	0	0	0	1	2123	697	25	2		2	C21orf2	21	45753031	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1839945	45753031	2376864	323	3943										
KRTAP10-11	386678	hgsc.bcm.edu	37	chr21	46067104	46067104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtgtccctcctctgccacccCgtgtgcaggtccacctgctg	10	18	1	0	rs75548048	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:46067104C>T	ENST00000334670.8	+	1	774	c.729C>T	c.(727-729)ccC>ccT	p.P243P	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	243	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGCCACCCCGTGTGCAGGT	0.687													C|||	125	0.0249601	0.0915	0.0058	5008	,	,		20784	0.0		0.0	False		,,,				2504	0.0				p.P243P		Atlas-SNP	.											.	KRTAP10-11	36	.	0			c.C729T						PASS	.	C	,	313,4093	167.3+/-198.3	16,281,1906	94	104	101		,729	-0.6	0.7	21	dbSNP_131	101	1,8599		0,1,4299	no	intron,coding-synonymous	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,	16,282,6205	TT,TC,CC		0.0116,7.1039,2.4143	,	,243/299	46067104	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	386678	exon1			CCACCCCGTGTGC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.729C>T	21.37:g.46067104C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	111	10	0.0900901	NM_198692	A2RRF9	Silent	SNP	ENST00000334670.8	37	CCDS42962.1																																																																																			C|0.980;T|0.020	0.020	strong		0.687	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		T	46067104	C	T	46067104	2	4	15	1	0	0	0	0	0	0	0	1	8507	639	23	1		1	KRTAP10-11	21	46067104	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	314073	46067104	2062791	324	3944			1	20		5	4	122	N	G_C_-	3.7781e-10
KRTAP10-11	386678	hgsc.bcm.edu	37	chr21	46067180	46067180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctgccagtccagctgctgcCgcccggcctcctgcgtgtcc	11	20	0	0	rs462007	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:46067180C>T	ENST00000334670.8	+	1	850	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	269	25 X 5 AA repeats of C-C-X(3).			R -> C (in Ref. 1; BAD01546 and 3; AAI31612). {ECO:0000305}.		keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCCGCCCGGCCTC	0.682													T|||	4087	0.816094	0.9887	0.7954	5008	,	,		19081	0.6796		0.8062	False		,,,				2504	0.7485				p.R269C		Atlas-SNP	.											.	KRTAP10-11	36	.	0			c.C805T						PASS	.	T	,CYS/ARG	4211,193	107.3+/-145.7	2012,187,3	42	54	50		,805	3	0.3	21	dbSNP_80	50	6723,1865	319.0+/-313.9	2635,1453,206	no	intron,missense	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,180	4647,1640,209	TT,TC,CC		21.7163,4.3824,15.8405	,probably-damaging	,269/299	46067180	10934,2058	2202	4294	6496	SO:0001583	missense	386678	exon1			TGCTGCCGCCCGG	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.805C>T	21.37:g.46067180C>T	ENSP00000334197:p.Arg269Cys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	132	33	0.25	NM_198692	A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	CCDS42962.1	1775	0.8127289377289377	480	0.975609756097561	298	0.8232044198895028	383	0.6695804195804196	614	0.8100263852242744	t	8.562	0.877898	0.17395	0.956176	0.782837	ENSG00000243489	ENST00000334670	T	0.00686	5.85	3.93	3.04	0.35103	.	.	.	.	.	T	0.00012	0.0000	M	0.63843	1.955	0.37916	P	0.06845500000000004	D	0.89917	1.0	P	0.61874	0.895	T	0.43410	-0.9393	8	0.54805	T	0.06	.	6.258	0.20884	0.1641:0.725:0.0:0.1109	rs462007;rs58847266	269	P60412	KR10B_HUMAN	C	269	ENSP00000334197:R269C	ENSP00000334197:R269C	R	+	1	0	KRTAP10-11	44891608	0.000000	0.05858	0.334000	0.25495	0.053000	0.15095	-1.248000	0.02890	0.187000	0.20147	-1.295000	0.01343	CGC	C|0.202;T|0.798	0.798	strong		0.682	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		T	46067180	C	T	46067180	3	4	15	1	0	0	0	0	1	0	0	0	8507	652	23	1	807	1	KRTAP10-11	21	46067180	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	76	46067180	2062715	325	3945			1	20		5	4	122	N	G_C_-	3.7781e-10
KRTAP10-11	386678	hgsc.bcm.edu	37	chr21	46067193	46067193	+	Missense_Mutation	SNP	G	G	C													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgctgccgcccggcctcctGcgtgtccctcctctgccgcc							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:46067193G>C	ENST00000334670.8	+	1	863	c.818G>C	c.(817-819)tGc>tCc	p.C273S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	273						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCGGCCTCCTGCGTGTCCCTC	0.677																																					p.C273S		Atlas-SNP	.											KRTAP10-11,NS,carcinoma,-1,1	KRTAP10-11	36	1	0			c.G818C						PASS	.						41	52	48					21																	46067193		2200	4292	6492	SO:0001583	missense	386678	exon1			CCTCCTGCGTGTC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.818G>C	21.37:g.46067193G>C	ENSP00000334197:p.Cys273Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	134	6	0.0447761	NM_198692	A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	g	10.35	1.326226	0.24080	.	.	ENSG00000243489	ENST00000334670	T	0.00648	5.99	3.93	1.85	0.25348	.	.	.	.	.	T	0.00724	0.0024	L	0.45051	1.395	0.21527	N	0.999652	B	0.21071	0.051	B	0.24541	0.054	T	0.44314	-0.9336	9	0.16896	T	0.51	.	7.0501	0.25069	0.1131:0.3795:0.5075:0.0	.	273	P60412	KR10B_HUMAN	S	273	ENSP00000334197:C273S	ENSP00000334197:C273S	C	+	2	0	KRTAP10-11	44891621	0.000000	0.05858	0.035000	0.18076	0.597000	0.36814	-0.005000	0.12855	0.627000	0.30340	0.462000	0.41574	TGC	.	.	none		0.677	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		C	46067193	G	C	46067193	3	2	15	1	0	0	0	0	1	0	0	0	8507	1319	46	4	820	4	KRTAP10-11	21	46067193	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	13	46067193	2062702	326	3946	66	2	1	20		5	4	122	N	G_C_-	3.7781e-10
KRTAP10-11	386678	hgsc.bcm.edu	37	chr21	46067194	46067194	+	Silent	SNP	C	C	T													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctgccgcccggcctcctgCgtgtccctcctctgccgccc							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:46067194C>T	ENST00000334670.8	+	1	864	c.819C>T	c.(817-819)tgC>tgT	p.C273C	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	273						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGGCCTCCTGCGTGTCCCTCC	0.677																																					p.C273C		Atlas-SNP	.											KRTAP10-11,NS,carcinoma,0,1	KRTAP10-11	36	1	0			c.C819T						scavenged	.						41	52	48					21																	46067194		2199	4293	6492	SO:0001819	synonymous_variant	386678	exon1			CTCCTGCGTGTCC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.819C>T	21.37:g.46067194C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	136	5	0.0367647	NM_198692	A2RRF9	Silent	SNP	ENST00000334670.8	37	CCDS42962.1																																																																																			.	.	none		0.677	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		T	46067194	C	T	46067194	2	4	15	1	0	0	0	0	0	0	0	1	8507	776	27	1		1	KRTAP10-11	21	46067194	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	1	46067194	2062701	327	3947	66	2	1	20		5	4	122	N	G_C_-	3.7781e-10
KRTAP10-11	386678	hgsc.bcm.edu	37	chr21	46067225	46067226	+	Frame_Shift_Ins	INS	-	-	G													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ctgccgccccgcaagctcccINSgcctggcctgctacagcctc					rs77998434|rs148239295	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr21:46067225_46067226insG	ENST00000334670.8	+	1	895_896	c.850_851insG	c.(850-852)cgcfs	p.R284fs	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	284						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGCAAGCTCCCGCCTGGCCTGC	0.649													G|G|GG|insertion	12	0.00239617	0.0091	0.0	5008	,	,		19715	0.0		0.0	False		,,,				2504	0.0				p.R284fs		Atlas-Indel	.											.	KRTAP10-11	36	.	0			c.850_851insG						PASS	.		,	42,4180		1,40,2070					,	1.5	0		dbSNP_131	40	0,8174		0,0,4087	no	frameshift,intron	TSPEAR,KRTAP10-11	NM_198692.2,NM_144991.2	,	1,40,6157	A1A1,A1R,RR		0.0,0.9948,0.3388	,	,		42,12354				SO:0001589	frameshift_variant	386678	exon1			.	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.851dupG	21.37:g.46067226_46067226dupG	ENSP00000334197:p.Arg284fs	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	137	23	0.167883	NM_198692	A2RRF9	Frame_Shift_Ins	INS	ENST00000334670.8	37	CCDS42962.1																																																																																			.	.	strong		0.649	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		G	46067226	-	G	46067225	7	5	15	1	0	1	1	0	0	0	0	0	8507	652	23	0	852	0	KRTAP10-11	21	46067225	Frame_Shift_Ins	INS	-	TCGA-FF-8061-01A-11D-2210-10	31	46067225	2062670	328	3948			1	20		5	4	122	N	G_C_-	3.7781e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230312	23230312	+	Missense_Mutation	SNP	C	C	G													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccaggcagcgctggcccctgCtgctgctgggtctggccatg							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230312C>G	ENST00000526893.1	+	1	353	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	IGLL5_ENST00000532223.2_Missense_Mutation_p.L27V|IGLL5_ENST00000531372.1_Missense_Mutation_p.L27V|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	27						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTGGCCCCTGCTGCTGCTGGG	0.667																																					p.L27V		Atlas-SNP	.											IGLL5,NS,lymphoid_neoplasm,-2,1	IGLL5	26	1	0			c.C79G						PASS	.																																			SO:0001583	missense	100423062	exon1			CCCCTGCTGCTGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.79C>G	22.37:g.23230312C>G	ENSP00000431254:p.Leu27Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278851	0.23307	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00626	6.13;6.14	3.81	-2.69	0.06022	.	.	.	.	.	T	0.00524	0.0017	L	0.29908	0.895	0.09310	N	1	P	0.37061	0.58	B	0.28232	0.087	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.0435	0.25033	0.3778:0.5232:0.0:0.099	.	27	B9A064	IGLL5_HUMAN	V	27	ENSP00000436353:L27V;ENSP00000431254:L27V	ENSP00000431254:L27V	L	+	1	2	IGLL5	21560312	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.733000	0.01850	-0.440000	0.07211	-0.165000	0.13383	CTG	.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		G	23230312	C	G	23230312	3	3	15	1	0	0	0	0	1	0	0	0	7594	796	28	4	81	4	IGLL5	22	23230312	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10		23230312	28074254	329	3949	67	2	2	21		6	4	101	N	G_C	2.121759e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230315	23230315	+	Silent	SNP	C	C	T													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ggcagcgctggcccctgctgCtgctgggtctggccatggtc					rs148489860	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230315C>T	ENST00000526893.1	+	1	356	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	IGLL5_ENST00000532223.2_Silent_p.L28L|IGLL5_ENST00000531372.1_Silent_p.L28L|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	28						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCCCCTGCTGCTGCTGGGTCT	0.662													C|||	11	0.00219649	0.0045	0.0	5008	,	,		12566	0.003		0.001	False		,,,				2504	0.001				p.L28L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C82T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			CTGCTGCTGCTGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.82C>T	22.37:g.23230315C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	140	60	0.428571	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			C|1.000;T|0.000	0.000	strong		0.662	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230315	C	T	23230315	2	4	15	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230315	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3	23230315	28074251	330	3950	67	2	2	21		6	4	101	N	G_C	2.121759e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230333	23230333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tgctgctgggtctggccatgGtcgcccatggcctgctgcgc	15	14	1	0			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230333G>A	ENST00000526893.1	+	1	374	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	IGLL5_ENST00000532223.2_Missense_Mutation_p.V34I|IGLL5_ENST00000531372.1_Missense_Mutation_p.V34I|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	34						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCTGGCCATGGTCGCCCATGG	0.667																																					p.V34I		Atlas-SNP	.											.	IGLL5	26	.	0			c.G100A						PASS	.																																			SO:0001583	missense	100423062	exon1			GCCATGGTCGCCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.100G>A	22.37:g.23230333G>A	ENSP00000431254:p.Val34Ile	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	126	50	0.396825	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252980	0.22965	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00581	6.42;6.42	3.55	1.39	0.22231	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.34061	0.436	B	0.21708	0.036	T	0.45160	-0.9280	9	0.28530	T	0.3	.	4.2734	0.10797	0.121:0.0:0.654:0.225	.	34	B9A064	IGLL5_HUMAN	I	34	ENSP00000436353:V34I;ENSP00000431254:V34I	ENSP00000431254:V34I	V	+	1	0	IGLL5	21560333	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.741000	0.26202	0.464000	0.27142	-0.196000	0.12772	GTC	.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230333	G	A	23230333	3	1	15	1	0	0	0	0	1	0	0	0	7594	1261	44	2	102	2	IGLL5	22	23230333	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	18	23230333	28074233	331	3951			2	21		6	4	101	N	G_C	2.121759e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230364	23230364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cctgctgcgcccaatggttgCaccgcaaagcggggacccag	13	15	0	0	rs538723125	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230364C>A	ENST00000526893.1	+	1	405	c.131C>A	c.(130-132)gCa>gAa	p.A44E	IGLL5_ENST00000532223.2_Missense_Mutation_p.A44E|IGLL5_ENST00000531372.1_Missense_Mutation_p.A44E|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	44						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAATGGTTGCACCGCAAAGC	0.682																																					p.A44E		Atlas-SNP	.											.	IGLL5	26	.	0			c.C131A						PASS	.																																			SO:0001583	missense	100423062	exon1			TGGTTGCACCGCA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.131C>A	22.37:g.23230364C>A	ENSP00000431254:p.Ala44Glu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	142	58	0.408451	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592719	0.46214	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00686	5.85;5.86	3.92	-0.956	0.10353	.	.	.	.	.	T	0.00580	0.0019	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.38655	0.278	T	0.48091	-0.9065	9	0.15952	T	0.53	.	4.4817	0.11771	0.0:0.4301:0.3576:0.2123	.	44	B9A064	IGLL5_HUMAN	E	44	ENSP00000436353:A44E;ENSP00000431254:A44E	ENSP00000431254:A44E	A	+	2	0	IGLL5	21560364	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.266000	0.18534	-0.052000	0.13311	0.643000	0.83706	GCA	.	.	none		0.682	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230364	C	A	23230364	3	1	15	1	0	0	0	0	1	0	0	0	7594	710	25	4	133	4	IGLL5	22	23230364	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	31	23230364	28074202	332	3952			2	21		6	4	101	N	G_C	2.121759e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230402	23230402	+	Missense_Mutation	SNP	G	G	A													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagaccctggagcctcagttGgaagcagccgatccagcctg							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230402G>A	ENST00000526893.1	+	1	443	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IGLL5_ENST00000532223.2_Missense_Mutation_p.G57R|IGLL5_ENST00000531372.1_Missense_Mutation_p.G57R|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	57						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGCCTCAGTTGGAAGCAGCCG	0.662																																					p.G57R		Atlas-SNP	.											.	IGLL5	26	.	0			c.G169A						PASS	.																																			SO:0001583	missense	100423062	exon1			TCAGTTGGAAGCA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.169G>A	22.37:g.23230402G>A	ENSP00000431254:p.Gly57Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	146	61	0.417808	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690900	0.48097	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00587	6.39;6.38	3.92	-1.17	0.09648	.	.	.	.	.	T	0.00496	0.0016	L	0.32530	0.975	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.40079	-0.9582	9	0.37606	T	0.19	.	5.1199	0.14854	0.2033:0.4108:0.3859:0.0	.	57	B9A064	IGLL5_HUMAN	R	57	ENSP00000436353:G57R;ENSP00000431254:G57R	ENSP00000431254:G57R	G	+	1	0	IGLL5	21560402	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.250000	0.08830	-0.072000	0.12864	-0.189000	0.12847	GGA	.	.	none		0.662	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230402	G	A	23230402	3	1	15	1	0	0	0	0	1	0	0	0	7594	1349	47	2	171	2	IGLL5	22	23230402	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	38	23230402	28074164	333	3953	68	2	2	21		6	4	101	N	G_C	2.121759e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230412	23230412	+	Missense_Mutation	SNP	G	G	C													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agcctcagttggaagcagccGatccagcctgcggagcctgt							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:23230412G>C	ENST00000526893.1	+	1	453	c.179G>C	c.(178-180)cGa>cCa	p.R60P	IGLL5_ENST00000532223.2_Missense_Mutation_p.R60P|IGLL5_ENST00000531372.1_Missense_Mutation_p.R60P|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	60						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGAAGCAGCCGATCCAGCCTG	0.652																																					p.R60P		Atlas-SNP	.											.	IGLL5	26	.	0			c.G179C						PASS	.																																			SO:0001583	missense	100423062	exon1			GCAGCCGATCCAG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.179G>C	22.37:g.23230412G>C	ENSP00000431254:p.Arg60Pro	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	148	64	0.432432	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919402	0.33908	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00622	6.17;6.16	3.92	-7.84	0.01196	.	.	.	.	.	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47341	-0.9125	9	0.62326	D	0.03	.	2.9625	0.05897	0.0917:0.3589:0.1664:0.3831	.	60	B9A064	IGLL5_HUMAN	P	60	ENSP00000436353:R60P;ENSP00000431254:R60P	ENSP00000431254:R60P	R	+	2	0	IGLL5	21560412	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.219000	0.00553	-1.485000	0.01854	0.643000	0.83706	CGA	.	.	none		0.652	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230412	G	C	23230412	3	2	15	1	0	0	0	0	1	0	0	0	7594	1058	37	4	181	4	IGLL5	22	23230412	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	10	23230412	28074154	334	3954	68	2	2	21		6	4	101	N	G_C	2.121759e-10
MYO18B	84700	hgsc.bcm.edu	37	chr22	26165124	26165124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	agctcggagtcagacagagaAgggctgtgaagccccaaagg	15	9	1	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:26165124A>G	ENST00000407587.2	+	4	1410	c.1241A>G	c.(1240-1242)aAg>aGg	p.K414R	MYO18B_ENST00000536101.1_Missense_Mutation_p.K414R|MYO18B_ENST00000335473.7_Missense_Mutation_p.K414R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K414M(1)		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						CAGACAGAGAAGGGCTGTGAA	0.607																																					p.K414R		Atlas-SNP	.											MYO18B,NS,carcinoma,0,1	MYO18B	322	1	1	Substitution - Missense(1)	lung(1)	c.A1241G						scavenged	.						29	36	34					22																	26165124		2162	4264	6426	SO:0001583	missense	84700	exon4			CAGAGAAGGGCTG	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.1241A>G	22.37:g.26165124A>G	ENSP00000386096:p.Lys414Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	86	2	0.0232558	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	A	14.50	2.553587	0.45487	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87571	-2.25;-2.25;-2.27	4.73	3.67	0.42095	.	.	.	.	.	D	0.83529	0.5274	L	0.57536	1.79	0.09310	N	1	B;B;B	0.17268	0.012;0.021;0.021	B;B;B	0.21917	0.016;0.037;0.037	T	0.73867	-0.3847	9	0.52906	T	0.07	.	6.6611	0.23014	0.6894:0.1583:0.0:0.1523	.	414;414;414	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	R	414	ENSP00000441229:K414R;ENSP00000334563:K414R;ENSP00000386096:K414R	ENSP00000334563:K414R	K	+	2	0	MYO18B	24495124	0.033000	0.19621	0.001000	0.08648	0.039000	0.13416	1.479000	0.35453	0.727000	0.32360	0.402000	0.26972	AAG	.	.	none		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26165124	A	G	26165124	3	3	15	1	0	0	0	0	1	0	0	0	10066	72	3	3	1251	3	MYO18B	22	26165124	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	2934712	26165124	25139442	335	3955										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26422889	26422889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	ccctggaaatcgaaggggccGctggtggtctcttgaggtcc	15	11	1	1	rs187337528		TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:26422889G>A	ENST00000407587.2	+	43	7121	c.6952G>A	c.(6952-6954)Gct>Act	p.A2318T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2317T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2317T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2317						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2318T(2)		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						CGAAGGGGCCGCTGGTGGTCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16066	0.001		0.0	False		,,,				2504	0.0				p.A2317T		Atlas-SNP	.											MYO18B,NS,haematopoietic_neoplasm,0,2	MYO18B	322	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G6949A						PASS	.						28	34	32					22																	26422889		1894	4096	5990	SO:0001583	missense	84700	exon43			GGGGCCGCTGGTG	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.6952G>A	22.37:g.26422889G>A	ENSP00000386096:p.Ala2318Thr	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	38	13	0.342105	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.012	-1.691334	0.00731	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.17;-2.17;-2.19	4.43	-7.52	0.01341	.	7739.210000	0.00166	N	0.000002	T	0.64294	0.2585	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001	T	0.58284	-0.7663	10	0.23891	T	0.37	.	0.11	0.00055	0.3104:0.2229:0.2234:0.2433	.	1830;2319;2317;2318;2317	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	T	2317;2317;2318	ENSP00000441229:A2317T;ENSP00000334563:A2317T;ENSP00000386096:A2318T	ENSP00000334563:A2317T	A	+	1	0	MYO18B	24752889	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.861000	0.01654	-1.216000	0.02607	-0.448000	0.05591	GCT	G|1.000;A|0.000	0.000	strong		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26422889	G	A	26422889	3	1	15	1	0	0	0	0	1	0	0	0	10066	1087	38	1	7115	1	MYO18B	22	26422889	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	257765	26422889	24881677	336	3956										
RFPL1	5988	hgsc.bcm.edu	37	chr22	29837976	29837976	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtctatacattcaggagtgtCtctgctgaggagccactgca	11	10	3	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																					p.V273V		Atlas-SNP	.											RFPL1,NS,carcinoma,0,2	RFPL1	43	2	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.C819A						scavenged	.						116	96	103					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988	exon2			GAGTGTCTCTGCT	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A		Somatic	199	4	0.0201005		WXS	Illumina HiSeq	Phase_I	239	9	0.0376569	NM_021026	Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																			.	.	none		0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		A	29837976	C	A	29837976	2	1	15	1	0	0	0	0	0	0	0	1	13253	900	32	4		4	RFPL1	22	29837976	Silent	SNP	C	TCGA-FF-8061-01A-11D-2210-10	3415087	29837976	21466590	337	3957										
NAGA	4668	hgsc.bcm.edu	37	chr22	42463804	42463804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aggaatgccatgagggaagcGcttgggatccggcatcaggc	16	9	1	1	rs140775168	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:42463804G>T	ENST00000396398.3	-	3	821	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	NAGA_ENST00000402937.1_Missense_Mutation_p.R97S|NAGA_ENST00000403363.1_Missense_Mutation_p.R97S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	97					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGAGGGAAGCGCTTGGGATCC	0.607																																					p.R97S		Atlas-SNP	.											.	NAGA	26	.	0			c.C289A						PASS	.						130	112	118					22																	42463804		2203	4300	6503	SO:0001583	missense	4668	exon3			GGAAGCGCTTGGG		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.289C>A	22.37:g.42463804G>T	ENSP00000379680:p.Arg97Ser	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	80	32	0.4	NM_000262		Missense_Mutation	SNP	ENST00000396398.3	37	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210448	0.79240	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.99820	-6.93;-6.93;-6.93	4.66	3.59	0.41128	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96983	0.9716	10	0.72032	D	0.01	-23.1156	10.2175	0.43177	0.0:0.0:0.5995:0.4005	.	97	P17050	NAGAB_HUMAN	S	97	ENSP00000379680:R97S;ENSP00000385283:R97S;ENSP00000384603:R97S	ENSP00000379680:R97S	R	-	1	0	NAGA	40793750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.394000	0.34509	2.441000	0.82636	0.561000	0.74099	CGC	G|1.000;C|0.000	.	alt		0.607	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			T	42463804	G	T	42463804	3	4	15	1	0	0	0	0	1	0	0	0	10141	1087	38	4	974	4	NAGA	22	42463804	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10	12625828	42463804	8840762	338	3958										
CYP2D6	1565	hgsc.bcm.edu	37	chr22	42523539	42523539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tccccaaagcgctgcacctcAtgaatcacggcagtggtgta	10	13	2	1	rs28371726	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chr22:42523539A>G	ENST00000360608.5	-	7	1197	c.1083T>C	c.(1081-1083)caT>caC	p.H361H	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.H310H|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.H361H|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000610250.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	361					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCACCTCATGAATCACGG	0.602																																					p.H361H		Atlas-SNP	.											CYP2D6_ENST00000360608,NS,carcinoma,0,4	CYP2D6	104	4	0			c.T1083C						scavenged	.						119	93	102					22																	42523539		2202	4299	6501	SO:0001819	synonymous_variant	1565	exon7			CACCTCATGAATC	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1083T>C	22.37:g.42523539A>G		Somatic	230	2	0.00869565		WXS	Illumina HiSeq	Phase_I	260	8	0.0307692	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																			A|0.959;G|0.041	0.041	strong		0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			G	42523539	A	G	42523539	2	3	15	1	0	0	0	0	0	0	0	1	4169	214	8	2		2	CYP2D6	22	42523539	Silent	SNP	A	TCGA-FF-8061-01A-11D-2210-10	59735	42523539	8781027	339	3959										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1585217	1585217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gttgcaatggtagtagatttGgaaaggcaacacgctggcca	13	7	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:1585217G>T	ENST00000381297.4	-	2	445	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGTAGATTTGGAAAGGCAAC	0.572			T	CRLF2	"B-ALL, Downs associated ALL"																																p.Q79K		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.C235A						PASS	.						141	127	132					X																	1585217		2203	4296	6499	SO:0001583	missense	286530	exon2			AGATTTGGAAAGG	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.235C>A	X.37:g.1585217G>T	ENSP00000370697:p.Gln79Lys	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	260	105	0.403846	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	3.768	-0.048128	0.07407	.	.	ENSG00000182162	ENST00000381297	T	0.71461	-0.57	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.65015	0.2651	N	0.16066	0.365	0.09310	N	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.58244	-0.7670	10	0.02654	T	1	.	12.2776	0.54744	0.0:0.0:1.0:0.0	.	79	Q86VZ1	P2RY8_HUMAN	K	79	ENSP00000370697:Q79K	ENSP00000370697:Q79K	Q	-	1	0	P2RY8	1545217	1.000000	0.71417	0.577000	0.28562	0.017000	0.09413	5.642000	0.67888	0.637000	0.30526	0.279000	0.19357	CAA	.	.	none		0.572	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		T	1585217	G	T	1585217	3	4	15	1	0	0	0	0	1	0	0	0	11355	1357	47	4	848	4	P2RY8	23	1585217	Missense_Mutation	SNP	G	TCGA-FF-8061-01A-11D-2210-10		1585217	153685343	340	3960										
TSPYL2	64061	hgsc.bcm.edu	37	chrX	53112146	53112146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gtagcgcagtggggtgggcgCcccagaggttagttgacccg	18	10	0	2	rs144264921	byFrequency	TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:53112146C>T	ENST00000375442.4	+	1	598	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGGGTGGGCGCCCCAGAGGTT	0.587													C|||	3	0.000794702	0.0015	0.0	3775	,	,		10753	0.0		0.001	False		,,,				2504	0.0				p.P156S		Atlas-SNP	.											.	TSPYL2	53	.	0			c.C466T						PASS	.		SER/PRO	6,3828		0,6,0,1626,570	25	24	24		466	-0.7	0.4	X	dbSNP_134	24	3,6724		0,1,2,2427,1869	yes	missense	TSPYL2	NM_022117.3	74	0,7,2,4053,2439	TT,TC,T,CC,C		0.0446,0.1565,0.0852	benign	156/694	53112146	9,10552	2202	4299	6501	SO:0001583	missense	64061	exon1			TGGGCGCCCCAGA	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.466C>T	X.37:g.53112146C>T	ENSP00000364591:p.Pro156Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_022117	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628646	0.03610	0.001565	4.46E-4	ENSG00000184205	ENST00000375442	T	0.19532	2.14	3.48	-0.742	0.11108	.	1.020780	0.07854	N	0.965098	T	0.07234	0.0183	N	0.02916	-0.46	0.20821	N	0.999844	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.40251	-0.9573	10	0.09590	T	0.72	-10.5495	6.56	0.22481	0.0:0.5958:0.0:0.4042	.	156;156	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	S	156	ENSP00000364591:P156S	ENSP00000364591:P156S	P	+	1	0	TSPYL2	53128871	0.006000	0.16342	0.447000	0.26932	0.809000	0.45718	-0.888000	0.04148	-0.236000	0.09753	0.519000	0.50382	CCC	C|0.998;T|0.002	0.002	strong		0.587	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		T	53112146	C	T	53112146	3	4	15	1	0	0	0	0	1	0	0	0	16657	739	26	2	468	2	TSPYL2	23	53112146	Missense_Mutation	SNP	C	TCGA-FF-8061-01A-11D-2210-10	51526929	53112146	102158414	341	3961										
P2RY10	27334	hgsc.bcm.edu	37	chrX	78216808	78216808	+	Frame_Shift_Del	DEL	T	T	-													0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	tccctatcatattaactttaTtttttacaccatggtaaagg							TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:78216808delT	ENST00000171757.2	+	4	1071	c.791delT	c.(790-792)attfs	p.I264fs	P2RY10_ENST00000544091.1_Frame_Shift_Del_p.I264fs	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAACTTTATTTTTTACACC	0.458																																					p.I264fs		Pindel,Atlas-Indel	.											.	P2RY10	99	.	0			c.790delA						PASS	.						145	137	140					X																	78216808		2203	4300	6503	SO:0001589	frameshift_variant	27334	exon2			.	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.791delT	X.37:g.78216808delT	ENSP00000171757:p.Ile264fs	Somatic	25	.	.		WXS	Illumina HiSeq	Phase_I	36	20	0.556	NM_198333	D3DTE5|Q4VBN7|Q86V16	Frame_Shift_Del	DEL	ENST00000171757.2	37	CCDS14442.1																																																																																			.	.	none		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			-	78216808	T	-	78216808	7	5	15	1	0	1	0	1	0	0	0	0	11347	1493	52	0	793	0	P2RY10	23	78216808	Frame_Shift_Del	DEL	T	TCGA-FF-8061-01A-11D-2210-10	25104662	78216808	77053752	342	3962										
ARMCX5	64860	hgsc.bcm.edu	37	chrX	101858323	101858323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	gctggactgaaattactaggGcacttgagtataaaatttga	10	5	0	3			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:101858323G>A	ENST00000604957.1	+	1	3876	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Silent_p.G418G|ARMCX5_ENST00000536530.1_Silent_p.G418G|ARMCX5_ENST00000246174.2_Silent_p.G418G|ARMCX5_ENST00000372742.1_Silent_p.G418G|ARMCX5_ENST00000541409.1_Silent_p.G418G|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	418										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AATTACTAGGGCACTTGAGTA	0.388																																					p.G418G		Atlas-SNP	.											.	ARMCX5	55	.	0			c.G1254A						PASS	.						53	53	53					X																	101858323		2203	4300	6503	SO:0001819	synonymous_variant	64860	exon3			ACTAGGGCACTTG		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1254G>A	X.37:g.101858323G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	92	11	0.119565	NM_022838	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	CCDS14500.1																																																																																			.	.	none		0.388	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		A	101858323	G	A	101858323	2	1	15	1	0	0	0	0	0	0	0	1	962	1190	42	2		2	ARMCX5	23	101858323	Silent	SNP	G	TCGA-FF-8061-01A-11D-2210-10	23641515	101858323	53412237	343	3963										
ZCCHC12	170261	hgsc.bcm.edu	37	chrX	117959875	117959875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	aagggaggaagaggattgggAtgatgcttttattaaacgga	15	2	0	2			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:117959875A>G	ENST00000310164.2	+	4	1175	c.668A>G	c.(667-669)gAt>gGt	p.D223G		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	223					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAGGATTGGGATGATGCTTTT	0.483																																					p.D223G		Atlas-SNP	.											.	ZCCHC12	60	.	0			c.A668G						PASS	.						59	52	55					X																	117959875		2203	4300	6503	SO:0001583	missense	170261	exon4			ATTGGGATGATGC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.668A>G	X.37:g.117959875A>G	ENSP00000308921:p.Asp223Gly	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	77	4	0.0519481	NM_173798	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	A	7.022	0.558807	0.13436	.	.	ENSG00000174460	ENST00000310164	T	0.34472	1.36	3.0	3.0	0.34707	.	.	.	.	.	T	0.36908	0.0984	M	0.72479	2.2	0.26670	N	0.971746	B	0.33612	0.419	B	0.35413	0.202	T	0.36187	-0.9758	9	0.59425	D	0.04	-9.0207	6.8214	0.23859	1.0:0.0:0.0:0.0	.	223	Q6PEW1	ZCH12_HUMAN	G	223	ENSP00000308921:D223G	ENSP00000308921:D223G	D	+	2	0	ZCCHC12	117843903	1.000000	0.71417	0.968000	0.41197	0.127000	0.20565	3.563000	0.53784	1.412000	0.46977	0.486000	0.48141	GAT	.	.	none		0.483	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		G	117959875	A	G	117959875	3	3	15	1	0	0	0	0	1	0	0	0	17578	333	12	2	670	2	ZCCHC12	23	117959875	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	16101552	117959875	37310685	344	3964										
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153035889	153035889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0206489675516224	7	1	0.332814733552741	1.4659696596966	0.254214391854901	0.361455108359133	0.631827022306899	0	cagtgccgtccaggccttggAggcggctgccccgtgagtcc	15	15	0	1			TCGA-FF-8061-01A-11D-2210-10	TCGA-FF-8061-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a29278af-7ecf-403e-b6a9-623ea7879d05	08470796-8ff6-4e18-98d5-f9ee0d079517	g.chrX:153035889A>G	ENST00000361971.5	+	9	1997	c.1883A>G	c.(1882-1884)gAg>gGg	p.E628G	PLXNB3_ENST00000538282.1_Missense_Mutation_p.E238G|PLXNB3_ENST00000538543.1_Missense_Mutation_p.E178G|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E281G|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E651G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	628	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTGGAGGCGGCTGCC	0.657																																					p.E651G		Atlas-SNP	.											.	PLXNB3	208	.	0			c.A1952G						PASS	.						57	43	47					X																	153035889		2193	4296	6489	SO:0001583	missense	5365	exon10			CCTTGGAGGCGGC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1883A>G	X.37:g.153035889A>G	ENSP00000355378:p.Glu628Gly	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	132	6	0.0454545	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	a	5.600	0.295469	0.10622	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.68624	5.21;5.17;4.6;1.91;-0.34	5.1	3.86	0.44501	.	0.274152	0.33591	N	0.004748	T	0.54631	0.1870	L	0.56769	1.78	0.23204	N	0.99813	B;B;B;B;B	0.28233	0.075;0.204;0.058;0.035;0.025	B;B;B;B;B	0.25614	0.021;0.055;0.04;0.062;0.045	T	0.39292	-0.9621	10	0.24483	T	0.36	.	4.6981	0.12813	0.6145:0.1945:0.0:0.191	.	281;310;178;651;628	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	G	651;628;281;178;238	ENSP00000442736:E651G;ENSP00000355378:E628G;ENSP00000445569:E281G;ENSP00000444086:E178G;ENSP00000441919:E238G	ENSP00000355378:E628G	E	+	2	0	PLXNB3	152689083	0.004000	0.15560	0.572000	0.28498	0.065000	0.16274	0.309000	0.19332	1.683000	0.51011	0.427000	0.28365	GAG	.	.	none		0.657	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			G	153035889	A	G	153035889	3	3	15	1	0	0	0	0	1	0	0	0	12125	304	11	3	2031	3	PLXNB3	23	153035889	Missense_Mutation	SNP	A	TCGA-FF-8061-01A-11D-2210-10	35076014	153035889	2234671	345	3965										
TNFRSF14	8764	hgsc.bcm.edu	37	chr1	2491336	2491336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gctgcagcccaggccacttcTgcatcgtccaggacggggac	13	15	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:2491336T>C	ENST00000355716.4	+	4	678	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R	RP3-395M20.8_ENST00000452793.1_RNA|RP3-395M20.8_ENST00000416860.2_RNA|TNFRSF14_ENST00000409119.1_Missense_Mutation_p.C127R	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	127					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|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;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGGCCACTTCTGCATCGTCCA	0.692			"Mis, N, F"		follicular lymphoma																																p.C127R		Atlas-SNP	.		Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	.	TNFRSF14	89	.	0			c.T379C						PASS	.						35	36	35					1																	2491336		2193	4297	6490	SO:0001583	missense	8764	exon4			CACTTCTGCATCG	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.379T>C	1.37:g.2491336T>C	ENSP00000347948:p.Cys127Arg	Somatic	357	1	0.00280112		WXS	Illumina HiSeq	Phase_I	113	39	0.345133	NM_003820	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325399	0.41197	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	3.57	3.57	0.40892	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.79358	0.4432	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81549	-0.0882	9	0.87932	D	0	-11.917	8.7123	0.34391	0.0:0.0:0.0:1.0	.	127	Q92956	TNR14_HUMAN	R	127	ENSP00000411854:C127R;ENSP00000415254:C127R;ENSP00000399292:C127R;ENSP00000399533:C127R;ENSP00000386859:C127R;ENSP00000347948:C127R	ENSP00000347948:C127R	C	+	1	0	TNFRSF14	2483082	0.009000	0.17119	0.985000	0.45067	0.221000	0.24807	0.389000	0.20751	1.642000	0.50584	0.379000	0.24179	TGC	.	.	none		0.692	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			C	2491336	T	C	2491336	3	2	16	1	0	0	0	0	1	0	0	0	16286	1580	55	3	393	3	TNFRSF14	1	2491336	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10		2491336	246759285	1	3966										
PRDM16	63976	hgsc.bcm.edu	37	chr1	3301766	3301766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgcgtggatgcaaatcaggcGggggctggcagctggctcaa	17	9	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:3301766G>A	ENST00000270722.5	+	4	538	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PRDM16_ENST00000442529.2_Silent_p.A163A|PRDM16_ENST00000378398.3_Silent_p.A163A|PRDM16_ENST00000441472.2_Silent_p.A163A|PRDM16_ENST00000378391.2_Silent_p.A163A|PRDM16_ENST00000514189.1_Silent_p.A164A|PRDM16_ENST00000511072.1_Silent_p.A164A|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	163	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAAATCAGGCGGGGGCTGGCA	0.597			T	EVI1	"MDS, AML"																																p.A163A		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	PRDM16,NS,carcinoma,+1,1	PRDM16	147	1	0			c.G489A						scavenged	.						92	105	101					1																	3301766		2164	4263	6427	SO:0001819	synonymous_variant	63976	exon4			TCAGGCGGGGGCT	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.489G>A	1.37:g.3301766G>A		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	195	2	0.0102564	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			.	.	none		0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		A	3301766	G	A	3301766	2	1	16	1	0	0	0	0	0	0	0	1	12457	1103	39	1		1	PRDM16	1	3301766	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	810430	3301766	245948855	2	3967										
PIK3CD	5293	hgsc.bcm.edu	37	chr1	9787030	9787030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acttccgagtgaagtttaacGaagccctccgtgagagctgg	12	10	0	2	rs397518423		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:9787030G>A	ENST00000377346.4	+	24	3256	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	CLSTN1_ENST00000477264.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E1045K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.E1045K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1021	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		E -> K (in APDS; results in gain of function causing enhanced membrane association and kinase activity). {ECO:0000269|PubMed:24136356}.		adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GAAGTTTAACGAAGCCCTCCG	0.567																																					p.E1021K		Atlas-SNP	.											PIK3CD,NS,lymphoid_neoplasm,0,2	PIK3CD	86	2	0			c.G3061A	GRCh37	CM067447	PIK3CD	M		PASS	.						79	71	74					1																	9787030		2203	4300	6503	SO:0001583	missense	5293	exon24			TTTAACGAAGCCC		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.3061G>A	1.37:g.9787030G>A	ENSP00000366563:p.Glu1021Lys	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	117	59	0.504274	NM_005026	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810780	0.50421	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.81415	-1.49;-1.49;-1.49	4.65	3.72	0.42706	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.86431	0.5931	L	0.53729	1.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;D	0.74674	0.984;0.876;0.941	D	0.87336	0.2328	10	0.87932	D	0	-17.4746	14.041	0.64674	0.0:0.0:0.8477:0.1523	.	1020;1045;1021	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	1045;1021;1045;1045	ENSP00000446444:E1045K;ENSP00000366563:E1021K;ENSP00000354410:E1045K	ENSP00000353766:E1045K	E	+	1	0	PIK3CD	9709617	1.000000	0.71417	0.115000	0.21578	0.699000	0.40488	9.865000	0.99609	0.945000	0.37605	-0.187000	0.12897	GAA	.	.	none		0.567	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		A	9787030	G	A	9787030	3	1	16	1	0	0	0	0	1	0	0	0	11915	1059	37	1	3147	1	PIK3CD	1	9787030	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	6485264	9787030	239463591	3	3968										
MTOR	2475	hgsc.bcm.edu	37	chr1	11174434	11174434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggcttccagcacggccatgAcactgtccttgtgctctcgc	10	15	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:11174434A>G	ENST00000361445.4	-	53	7317	c.7241T>C	c.(7240-7242)gTc>gCc	p.V2414A	MTOR_ENST00000376838.1_Missense_Mutation_p.V619A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2414	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CACGGCCATGACACTGTCCTT	0.542																																					p.V2414A		Atlas-SNP	.											MTOR,NS,lymphoid_neoplasm,-1,1	MTOR	327	1	0			c.T7241C						scavenged	.						163	133	143					1																	11174434		2203	4300	6503	SO:0001583	missense	2475	exon53			GCCATGACACTGT	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7241T>C	1.37:g.11174434A>G	ENSP00000354558:p.Val2414Ala	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	149	5	0.033557	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	34	5.307021	0.95629	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	D;D;D	0.81821	-1.54;-1.54;-1.54	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.78637	2.42	0.80722	D	1	P	0.50710	0.938	P	0.53450	0.726	D	0.88639	0.3174	10	0.87932	D	0	-11.6488	15.497	0.75662	1.0:0.0:0.0:0.0	.	2414	P42345	MTOR_HUMAN	A	2414;619;70	ENSP00000354558:V2414A;ENSP00000366034:V619A;ENSP00000398745:V70A	ENSP00000354558:V2414A	V	-	2	0	MTOR	11097021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	GTC	.	.	none		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11174434	A	G	11174434	3	3	16	1	0	0	0	0	1	0	0	0	9954	275	10	2	432	2	MTOR	1	11174434	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	1387404	11174434	238076187	4	3969										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854401	12854401	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tatacctgaatagtattcaaGagctggaaattcgcaacatg	8	7	1	2	rs201717831		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:12854401G>T	ENST00000332296.7	+	3	728	c.625G>T	c.(625-627)Gag>Tag	p.E209*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	209					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGTATTCAAGAGCTGGAAAT	0.398																																					p.E209X		Atlas-SNP	.											PRAMEF1,NS,carcinoma,0,2	PRAMEF1	78	2	0			c.G625T						scavenged	.						363	333	343					1																	12854401		2203	4300	6503	SO:0001587	stop_gained	65121	exon3			ATTCAAGAGCTGG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.625G>T	1.37:g.12854401G>T	ENSP00000332134:p.Glu209*	Somatic	501	29	0.0578842		WXS	Illumina HiSeq	Phase_I	458	37	0.080786	NM_023013	Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023241	0.54683	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.74	0.76	0.18442	.	0.742629	0.12834	N	0.435382	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.5875	0.07977	0.2694:0.0:0.7306:0.0	.	.	.	.	X	209	.	ENSP00000332134:E209X	E	+	1	0	PRAMEF1	12776988	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.426000	0.21363	0.256000	0.21614	0.543000	0.68304	GAG	G|0.500;C|0.500	.	alt		0.398	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854401	G	T	12854401	4	4	16	1	0	0	0	0	0	1	0	0	12425	943	33	4	631	4	PRAMEF1	1	12854401	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1679967	12854401	236396220	5	3970										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	267	14	0.0524345		WXS	Illumina HiSeq	Phase_I	330	19	0.0575758	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	16	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	53307	12907708	236342913	6	3971										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921277	12921277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctctcgagaccctcgtgttAgagggctgtcagatccacta	10	12	2	3	rs3204826	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:12921277A>G	ENST00000240189.2	+	4	1155	c.1068A>G	c.(1066-1068)ttA>ttG	p.L356L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	356					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L356F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTGTTAGAGGGCTGTC	0.542													.|||	93	0.0185703	0.0091	0.0115	5008	,	,		23369	0.0437		0.008	False		,,,				2504	0.0215				p.L356L		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	prostate(1)	c.A1068G						scavenged	.						161	158	159					1																	12921277		2201	4291	6492	SO:0001819	synonymous_variant	65122	exon4			CGTGTTAGAGGGC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1068A>G	1.37:g.12921277A>G		Somatic	416	4	0.00961538		WXS	Illumina HiSeq	Phase_I	440	8	0.0181818	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			A|0.996;G|0.004	0.004	strong		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921277	A	G	12921277	2	3	16	1	0	0	0	0	0	0	0	1	12435	417	15	3		3	PRAMEF2	1	12921277	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	13569	12921277	236329344	7	3972										
AKR7A2	8574	hgsc.bcm.edu	37	chr1	19632532	19632532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctgcagctgtgagtggtggtAcatccaccggagggcagccg	16	11	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:19632532A>G	ENST00000235835.3	-	6	919	c.898T>C	c.(898-900)Tac>Cac	p.Y300H	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	300					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGGTGGTACATCCACCGG	0.627																																					p.Y300H		Atlas-SNP	.											AKR7A2,NS,carcinoma,+2,1	AKR7A2	19	1	0			c.T898C						scavenged	.						68	67	67					1																	19632532		2203	4300	6503	SO:0001583	missense	8574	exon6			GGTGGTACATCCA	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.898T>C	1.37:g.19632532A>G	ENSP00000235835:p.Tyr300His	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	104	3	0.0288462	NM_003689	O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	CCDS194.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859419	0.71834	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.25579	1.79;1.79	3.84	3.84	0.44239	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.52126	1.63	0.51233	D	0.999911	D	0.89917	1.0	D	0.85130	0.997	T	0.10337	-1.0634	10	0.30854	T	0.27	.	10.9159	0.47135	1.0:0.0:0.0:0.0	.	300	O43488	ARK72_HUMAN	H	300;255;162	ENSP00000235835:Y300H;ENSP00000339084:Y255H	ENSP00000235835:Y300H	Y	-	1	0	AKR7A2	19505119	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.543000	0.90651	1.741000	0.51731	0.459000	0.35465	TAC	.	.	none		0.627	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		G	19632532	A	G	19632532	3	3	16	1	0	0	0	0	1	0	0	0	475	391	14	2	189	2	AKR7A2	1	19632532	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	6711255	19632532	229618089	8	3973										
SYTL1	84958	hgsc.bcm.edu	37	chr1	27674316	27674316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	caggagaccaggctccaggcCacgacagggaggctgaggct	16	12	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:27674316C>T	ENST00000543823.1	+	3	820	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	SYTL1_ENST00000318074.5_Missense_Mutation_p.H120Y|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	120					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCCAGGCCACGACAGGGA	0.637																																					p.H120Y		Atlas-SNP	.											SYTL1,NS,carcinoma,-1,1	SYTL1	57	1	0			c.C358T						scavenged	.						44	50	48					1																	27674316		2203	4300	6503	SO:0001583	missense	84958	exon4			CCAGGCCACGACA	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.358C>T	1.37:g.27674316C>T	ENSP00000440704:p.His120Tyr	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_032872	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	C	1.702	-0.501185	0.04261	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.24350	1.86;1.86	3.73	1.29	0.21616	.	1.807560	0.02321	N	0.072992	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B;P;B;B	0.42584	0.0;0.784;0.0;0.0	B;B;B;B	0.41271	0.0;0.352;0.0;0.001	T	0.26780	-1.0093	10	0.62326	D	0.03	-0.3957	7.8397	0.29391	0.5672:0.4328:0.0:0.0	.	120;120;120;120	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	Y	120	ENSP00000316464:H120Y;ENSP00000440704:H120Y	ENSP00000316464:H120Y	H	+	1	0	SYTL1	27546903	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	0.276000	0.18716	0.249000	0.21456	-0.364000	0.07487	CAC	.	.	none		0.637	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		T	27674316	C	T	27674316	3	4	16	1	0	0	0	0	1	0	0	0	15479	594	21	2	368	2	SYTL1	1	27674316	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	8041784	27674316	221576305	9	3974										
FUBP1	8880	hgsc.bcm.edu	37	chr1	78429757	78429757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctatcaaacctgaacacttCgaagaaggtctgtaataatt	6	8	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:78429757C>T	ENST00000370768.2	-	12	1112	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	FUBP1_ENST00000436586.2_Missense_Mutation_p.R365Q|FUBP1_ENST00000370767.1_Missense_Mutation_p.R344Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	344					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGAACACTTCGAAGAAGGTC	0.358			"F, N"		oligodendroglioma																																p.R344Q		Atlas-SNP	.		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	FUBP1_ENST00000370768,colon,carcinoma,-1,1	FUBP1	112	1	0			c.G1031A						scavenged	.						193	184	187					1																	78429757		2203	4300	6503	SO:0001583	missense	8880	exon12			ACACTTCGAAGAA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1031G>A	1.37:g.78429757C>T	ENSP00000359804:p.Arg344Gln	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	190	4	0.0210526	NM_003902	Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604263	0.46423	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.44083	0.93;0.93;0.93	5.81	5.81	0.92471	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	N	0.03324	-0.35	0.80722	D	1	B;B	0.33494	0.414;0.119	B;B	0.19391	0.025;0.015	T	0.17776	-1.0358	10	0.10902	T	0.67	-15.3337	20.0643	0.97702	0.0:1.0:0.0:0.0	.	365;344	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	343;344;344;343;365	ENSP00000359803:R344Q;ENSP00000359804:R344Q;ENSP00000389536:R365Q	ENSP00000294623:R343Q	R	-	2	0	FUBP1	78202345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.907000	0.69908	2.737000	0.93849	0.650000	0.86243	CGA	.	.	none		0.358	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		T	78429757	C	T	78429757	3	4	16	1	0	0	0	0	1	0	0	0	6092	884	31	1	939	1	FUBP1	1	78429757	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	50755441	78429757	170820864	10	3975										
CTBS	1486	hgsc.bcm.edu	37	chr1	85040024	85040024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gccagcagcgccagcagcgcCagcagcgctagacccgggac	14	17	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																					p.L25L		Atlas-SNP	.											CTBS,NS,carcinoma,0,1	CTBS	24	1	0			c.G75A						scavenged	.						3	4	4					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	1486	exon1			CAGCGCCAGCAGC	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	3	2	0.666667	NM_004388	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																			.	.	none		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		T	85040024	C	T	85040024	2	4	16	1	0	0	0	0	0	0	0	1	3999	581	21	2		2	CTBS	1	85040024	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6610267	85040024	164210597	11	3976										
SSX2IP	117178	hgsc.bcm.edu	37	chr1	85128001	85128001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctgcattttccattaggatTtgtttctgacgatattcata	6	7	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:85128001T>G	ENST00000342203.3	-	8	1070	c.807A>C	c.(805-807)caA>caC	p.Q269H	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.Q242H|SSX2IP_ENST00000437941.2_Missense_Mutation_p.Q242H|SSX2IP_ENST00000370612.4_Missense_Mutation_p.Q269H	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	269					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CCATTAGGATTTGTTTCTGAC	0.323																																					p.Q269H		Atlas-SNP	.											.	SSX2IP	53	.	0			c.A807C						PASS	.						113	124	120					1																	85128001		2203	4300	6503	SO:0001583	missense	117178	exon9			TAGGATTTGTTTC		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.807A>C	1.37:g.85128001T>G	ENSP00000340279:p.Gln269His	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	131	8	0.0610687	NM_001166417	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624299	0.66901	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.47869	0.85;0.83	5.65	4.53	0.55603	.	0.219097	0.49305	D	0.000151	T	0.46405	0.1391	M	0.63428	1.95	0.41120	D	0.985803	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.58820	0.846;0.783;0.783	T	0.53865	-0.8378	10	0.87932	D	0	-3.6859	7.8139	0.29247	0.0:0.2925:0.0:0.7075	.	265;269;242	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	H	269;242;265;269	ENSP00000340279:Q269H;ENSP00000412781:Q242H	ENSP00000340279:Q269H	Q	-	3	2	SSX2IP	84900589	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	0.235000	0.17948	0.994000	0.38892	0.482000	0.46254	CAA	.	.	none		0.323	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		G	85128001	T	G	85128001	3	3	16	1	0	0	0	0	1	0	0	0	15203	1838	64	5	1065	5	SSX2IP	1	85128001	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	87977	85128001	164122620	12	3977										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103364535	103364535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgtcttccctctgcacctgCagctccaggaggaccctata	8	15	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:103364535C>A	ENST00000370096.3	-	55	4414	c.4102G>T	c.(4102-4104)Gca>Tca	p.A1368S	COL11A1_ENST00000512756.1_Missense_Mutation_p.A1252S|COL11A1_ENST00000353414.4_Missense_Mutation_p.A1329S|COL11A1_ENST00000358392.2_Missense_Mutation_p.A1380S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1368	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTGCACCTGCAGCTCCAGGA	0.274																																					p.A1380S		Atlas-SNP	.											.	COL11A1	972	.	0			c.G4138T						PASS	.						44	45	44					1																	103364535		2201	4298	6499	SO:0001583	missense	1301	exon55			CACCTGCAGCTCC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4102G>T	1.37:g.103364535C>A	ENSP00000359114:p.Ala1368Ser	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	101	46	0.455446	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807087	0.31961	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.06	1.46	0.22682	.	0.409732	0.27509	N	0.019059	D	0.84543	0.5495	L	0.43152	1.355	0.24453	N	0.994478	B;B;P;B;B	0.37708	0.043;0.073;0.606;0.0;0.03	B;B;P;B;B	0.49012	0.027;0.059;0.598;0.001;0.037	T	0.77130	-0.2701	10	0.20519	T	0.43	.	4.6044	0.12371	0.1589:0.3328:0.0:0.5083	.	1252;1329;1380;1368;588	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1368;1380;1329;588;1252	ENSP00000359114:A1368S;ENSP00000351163:A1380S;ENSP00000302551:A1329S;ENSP00000426533:A1252S	ENSP00000302551:A1329S	A	-	1	0	COL11A1	103137123	0.906000	0.30813	0.990000	0.47175	0.983000	0.72400	0.385000	0.20685	-0.012000	0.14223	0.650000	0.86243	GCA	.	.	none		0.274	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103364535	C	A	103364535	3	1	16	1	0	0	0	0	1	0	0	0	3667	710	25	4	1370	4	COL11A1	1	103364535	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	18236534	103364535	145886086	13	3978										
KCNA10	3744	hgsc.bcm.edu	37	chr1	111060343	111060343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctgcagccccttggagtggCgcgagagcttgaagatgcgg	16	10	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:111060343C>T	ENST00000369771.2	-	1	1454	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	356					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)	CTTGGAGTGGCGCGAGAGCTT	0.572																																					p.R356H		Atlas-SNP	.											KCNA10,NS,carcinoma,-1,2	KCNA10	92	2	0			c.G1067A						scavenged	.						112	107	109					1																	111060343		2203	4300	6503	SO:0001583	missense	3744	exon1			GAGTGGCGCGAGA	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.1067G>A	1.37:g.111060343C>T	ENSP00000358786:p.Arg356His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	166	2	0.0120482	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364565	0.82463	.	.	ENSG00000143105	ENST00000369771	D	0.98602	-5.02	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99414	1.0931	10	0.87932	D	0	.	18.3064	0.90184	0.0:1.0:0.0:0.0	.	356	Q16322	KCA10_HUMAN	H	356	ENSP00000358786:R356H	ENSP00000358786:R356H	R	-	2	0	KCNA10	110861866	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.815000	0.86186	2.676000	0.91093	0.558000	0.71614	CGC	.	.	none		0.572	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		T	111060343	C	T	111060343	3	4	16	1	0	0	0	0	1	0	0	0	8002	768	27	1	472	1	KCNA10	1	111060343	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7695808	111060343	138190278	14	3979										
CSDE1	7812	hgsc.bcm.edu	37	chr1	115275286	115275286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaacttctatattggttgctCgctctaatttgtcacgtcgg	9	9	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:115275286C>T	ENST00000358528.4	-	10	1415	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	CSDE1_ENST00000261443.5_Missense_Mutation_p.R299Q|CSDE1_ENST00000530886.1_Missense_Mutation_p.R200Q|CSDE1_ENST00000534699.1_Missense_Mutation_p.R330Q|CSDE1_ENST00000369530.1_Missense_Mutation_p.R345Q|CSDE1_ENST00000339438.6_Missense_Mutation_p.R299Q|CSDE1_ENST00000438362.2_Missense_Mutation_p.R376Q	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	330	CSD 4; truncated.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R330L(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGTTGCTCGCTCTAATTT	0.398																																					p.R376Q		Atlas-SNP	.											CSDE1_ENST00000369530,NS,carcinoma,-1,2	CSDE1	145	2	1	Substitution - Missense(1)	lung(1)	c.G1127A						scavenged	.						180	177	178					1																	115275286		2203	4300	6503	SO:0001583	missense	7812	exon11			GTTGCTCGCTCTA		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.989G>A	1.37:g.115275286C>T	ENSP00000351329:p.Arg330Gln	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	234	3	0.0128205	NM_001242891	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091403	0.94149	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.958;0.997;0.998	B;D;D	0.72982	0.273;0.953;0.979	T	0.74000	-0.3805	9	0.66056	D	0.02	-1.9878	20.2374	0.98362	0.0:1.0:0.0:0.0	.	345;330;376	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Q	299;376;330;299;200;345;330	.	ENSP00000261443:R299Q	R	-	2	0	CSDE1	115076809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.787000	0.95880	0.591000	0.81541	CGA	.	.	none		0.398	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		T	115275286	C	T	115275286	3	4	16	1	0	0	0	0	1	0	0	0	3929	884	31	1	1451	1	CSDE1	1	115275286	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	4214943	115275286	133975335	15	3980										
NBPF15	284565	hgsc.bcm.edu	37	chr1	148594563	148594563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atatcagcttcgccctttacGtggacaataggttttttact	7	9	1	0	rs146229961		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:148594563G>T	ENST00000369187.3	+	19	2425	c.1936G>T	c.(1936-1938)Gtg>Ttg	p.V646L	NBPF15_ENST00000442702.2_Missense_Mutation_p.V646L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	646	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CGCCCTTTACGTGGACAATAG	0.443																																					p.V646L		Atlas-SNP	.											NBPF15,brain,glioma,0,1	NBPF15	20	1	0			c.G1936T						scavenged	.						73	97	89					1																	148594563		2159	4285	6444	SO:0001583	missense	284565	exon19			CTTTACGTGGACA	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1936G>T	1.37:g.148594563G>T	ENSP00000358188:p.Val646Leu	Somatic	472	45	0.095339		WXS	Illumina HiSeq	Phase_I	538	44	0.0817844	NM_173638	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	3.518	-0.098353	0.07010	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.10668	2.85;2.85	0.502	-1.0	0.10196	DUF1220 (2);	.	.	.	.	T	0.04048	0.0113	M	0.77103	2.36	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.39563	-0.9608	8	0.51188	T	0.08	.	.	.	.	.	646	Q8N660	NBPFF_HUMAN	L	646	ENSP00000416864:V646L;ENSP00000358188:V646L	ENSP00000358188:V646L	V	+	1	0	NBPF15	146861187	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.793000	0.01755	-0.873000	0.04032	-1.415000	0.01116	GTG	G|0.996;T|0.005	0.005	strong		0.443	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		T	148594563	G	T	148594563	3	4	16	1	0	0	0	0	1	0	0	0	10195	1145	40	4	1994	4	NBPF15	1	148594563	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	33319277	148594563	100656058	16	3981										
FLG	2312	hgsc.bcm.edu	37	chr1	152280691	152280691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgattgtccctggcccaccAgtgagtgtctagagctgtcg	12	11	1	3	rs117945779	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:152280691A>T	ENST00000368799.1	-	3	6706	c.6671T>A	c.(6670-6672)cTg>cAg	p.L2224Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCCACCAGTGAGTGTCT	0.542									Ichthyosis				-|||	959	0.191494	0.1936	0.1873	5008	,	,		22319	0.3026		0.0706	False		,,,				2504	0.2014				p.L2224Q		Atlas-SNP	.											FLG,NS,malignant_melanoma,+1,1	FLG	900	1	0			c.T6671A						scavenged	.						260	255	257					1																	152280691		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCACCAGTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6671T>A	1.37:g.152280691A>T	ENSP00000357789:p.Leu2224Gln	Somatic	358	30	0.0837989		WXS	Illumina HiSeq	Phase_I	406	39	0.0960591	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	2.028	-0.423196	0.04734	.	.	ENSG00000143631	ENST00000368799	T	0.02656	4.21	0.883	-0.332	0.12675	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.08381	T	0.77	.	1.4068	0.02283	0.3248:0.2503:0.0:0.4249	.	2224	P20930	FILA_HUMAN	Q	2224	ENSP00000357789:L2224Q	ENSP00000357789:L2224Q	L	-	2	0	FLG	150547315	0.313000	0.24554	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-0.732000	0.04856	-0.721000	0.03606	CTG	.	.	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280691	A	T	152280691	3	4	16	1	0	0	0	0	1	0	0	0	5922	188	7	5	5518	5	FLG	1	152280691	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3686128	152280691	96969930	17	3982										
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749039	152749039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggctgctgcagctctgggggTggtggctgctgcagctctgg	19	10	2	0	rs202038292|rs149277953	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:152749039T>C	ENST00000334371.2	+	1	192	c.192T>C	c.(190-192)ggT>ggC	p.G64G		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGTGGTGGCTGCT	0.672																																					p.G64G		Atlas-SNP	.											LCE1F,NS,carcinoma,+2,1	LCE1F	42	1	1	Deletion - In frame(1)	stomach(1)	c.T192C						scavenged	.						30	33	32					1																	152749039		2201	4299	6500	SO:0001819	synonymous_variant	353137	exon1			TGGGGGTGGTGGC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.192T>C	1.37:g.152749039T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_178354		Silent	SNP	ENST00000334371.2	37	CCDS1023.1																																																																																			T|0.954;C|0.046	0.046	strong		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		C	152749039	T	C	152749039	2	2	16	1	0	0	0	0	0	0	0	1	8664	1683	59	2		2	LCE1F	1	152749039	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	468348	152749039	96501582	18	3983										
OLFML2B	25903	hgsc.bcm.edu	37	chr1	161953800	161953800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aatgacctcctggctgaagcCctcatcgtccagggccgggt	12	14	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:161953800C>T	ENST00000294794.3	-	8	2341	c.1918G>A	c.(1918-1920)Ggc>Agc	p.G640S	OLFML2B_ENST00000367938.1_Missense_Mutation_p.G123S|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G641S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	640	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGCTGAAGCCCTCATCGTCC	0.617																																					p.G640S		Atlas-SNP	.											OLFML2B,NS,carcinoma,+2,1	OLFML2B	114	1	0			c.G1918A						scavenged	.						78	69	72					1																	161953800		2203	4300	6503	SO:0001583	missense	25903	exon8			TGAAGCCCTCATC	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1918G>A	1.37:g.161953800C>T	ENSP00000294794:p.Gly640Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	106	3	0.0283019	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083611	0.76642	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.89552	-2.53;-2.53;-2.53	5.36	4.45	0.53987	Olfactomedin-like (3);	.	.	.	.	D	0.91978	0.7459	M	0.77616	2.38	0.45914	D	0.998750	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.975	D	0.92955	0.6384	8	0.62326	D	0.03	.	11.6895	0.51508	0.0:0.9134:0.0:0.0866	.	641;640	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	S	640;641;123	ENSP00000294794:G640S;ENSP00000356917:G641S;ENSP00000356915:G123S	ENSP00000294794:G640S	G	-	1	0	OLFML2B	160220424	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.560000	0.60802	1.244000	0.43870	0.561000	0.74099	GGC	.	.	none		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		T	161953800	C	T	161953800	3	4	16	1	0	0	0	0	1	0	0	0	10858	623	22	2	338	2	OLFML2B	1	161953800	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	9204761	161953800	87296821	19	3984										
BAT2L2	23215	hgsc.bcm.edu	37	chr1	171557627	171557628	+	Frame_Shift_Del	DEL	AC	AC	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaatgacacaaccatttcctAcacagtttgcaccccaggtg							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:171557627_171557628delAC	ENST00000338920.4	+	33	8413_8414	c.8176_8177delAC	c.(8176-8178)acafs	p.T2726fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.T2728fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.T2728fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.T2661fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2726					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACCATTTCCTACACAGTTTGCA	0.396																																					p.2725_2726del		Atlas-Indel	.											BAT2D1_ENST00000392078,NS,carcinoma,+2,2	.	.	2	0			c.8175_8176del						PASS	.																																			SO:0001589	frameshift_variant	23215	exon33			.	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.8176_8177delAC	1.37:g.171557629_171557630delAC	ENSP00000343629:p.Thr2726fs	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	118	20	0.169492	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	CCDS1296.2																																																																																			.	.	none		0.396	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		-	171557628	AC	-	171557627	7	5	16	1	0	1	0	1	0	0	0	0	1321	391	14	0	8194	0	BAT2L2	1	171557627	Frame_Shift_Del	DEL	AC	TCGA-FF-8062-01A-11D-2210-10	9603827	171557627	77692994	20	3985										
SERPINC1	462	hgsc.bcm.edu	37	chr1	173878965	173878965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggtgccttcagccacgcgcCgataacggaacttgccttcc	11	15	1	0	rs572313182	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:173878965C>T	ENST00000367698.3	-	5	996	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	293			Missing (in AT3D; type-I). {ECO:0000269|PubMed:7878627}.|R -> P (in AT3D). {ECO:0000269|PubMed:23910795}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	AGCCACGCGCCGATAACGGAA	0.527													C|||	3	0.000599042	0.0	0.0	5008	,	,		21039	0.0		0.0	False		,,,				2504	0.0031				p.R293Q		Atlas-SNP	.											SERPINC1,NS,carcinoma,-1,1	SERPINC1	57	1	0			c.G878A	GRCh37	CM063129	SERPINC1	M		scavenged	.						110	96	101					1																	173878965		2203	4300	6503	SO:0001583	missense	462	exon5			ACGCGCCGATAAC	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.878G>A	1.37:g.173878965C>T	ENSP00000356671:p.Arg293Gln	Somatic	115	2	0.0173913		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_000488	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823619	0.32237	.	.	ENSG00000117601	ENST00000367698	D	0.82526	-1.62	5.45	4.48	0.54585	Serpin domain (3);	0.474877	0.23614	N	0.046311	T	0.60064	0.2240	L	0.45422	1.42	0.09310	N	1	P	0.37864	0.61	B	0.21917	0.037	T	0.59295	-0.7481	10	0.44086	T	0.13	.	12.7135	0.57102	0.1652:0.8348:0.0:0.0	.	293	P01008	ANT3_HUMAN	Q	293	ENSP00000356671:R293Q	ENSP00000356671:R293Q	R	-	2	0	SERPINC1	172145588	0.000000	0.05858	0.992000	0.48379	0.904000	0.53231	0.220000	0.17660	2.555000	0.86185	0.655000	0.94253	CGG	.	.	none		0.527	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		T	173878965	C	T	173878965	3	4	16	1	0	0	0	0	1	0	0	0	14109	652	23	1	528	1	SERPINC1	1	173878965	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2321338	173878965	75371656	21	3986										
TOR1AIP1	26092	hgsc.bcm.edu	37	chr1	179852022	179852022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgaagacgcgaaggactaccCgccttcagcagcagcactca	10	14	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:179852022C>T	ENST00000606911.2	+	1	576	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R129C|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R8C|RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R129C			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	129					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAGGACTACCCGCCTTCAGCA	0.597																																					p.R129C		Atlas-SNP	.											.	TOR1AIP1	58	.	0			c.C385T						PASS	.						36	42	40					1																	179852022		2203	4300	6503	SO:0001583	missense	26092	exon1			ACTACCCGCCTTC		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.385C>T	1.37:g.179852022C>T	ENSP00000476687:p.Arg129Cys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_001267578	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703232	0.48412	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.26810	1.71;1.71;1.71	3.48	1.49	0.22878	.	0.353873	0.20615	N	0.088900	T	0.38506	0.1043	M	0.61703	1.905	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.91;0.938	T	0.12426	-1.0548	10	0.72032	D	0.01	-0.3755	4.6478	0.12580	0.0:0.6448:0.2268:0.1284	.	129;129	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	C	129	ENSP00000435365:R129C;ENSP00000271583:R129C;ENSP00000393292:R129C	ENSP00000271583:R129C	R	+	1	0	TOR1AIP1	178118645	0.004000	0.15560	0.005000	0.12908	0.019000	0.09904	1.565000	0.36386	0.267000	0.21916	0.563000	0.77884	CGC	.	.	none		0.597	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		T	179852022	C	T	179852022	3	4	16	1	0	0	0	0	1	0	0	0	16369	652	23	1	387	1	TOR1AIP1	1	179852022	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5973057	179852022	69398599	22	3987										
ARL8A	127829	hgsc.bcm.edu	37	chr1	202113679	202113679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggccttgaaccagtccagcaGcttgttgaacaaagcgatca	10	11	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:202113679G>A	ENST00000272217.2	-	1	190	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	8					chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|mitotic nuclear division (GO:0007067)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CAGTCCAGCAGCTTGTTGAAC	0.677																																					p.L8L		Atlas-SNP	.											.	ARL8A	14	.	0			c.C22T						PASS	.						79	63	69					1																	202113679		2203	4300	6503	SO:0001819	synonymous_variant	127829	exon1			CCAGCAGCTTGTT	BC015408	CCDS1421.1, CCDS73004.1	1q32.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000143862	ENSG00000143862		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25192	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10B"	ARL10B		8889548	Standard	NM_001256129		Approved	FLJ45195, Gie2	uc001gxk.2	Q96BM9	OTTHUMG00000035923	ENST00000272217.2:c.22C>T	1.37:g.202113679G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	29	7	0.241379	NM_138795	B3KXD0	Silent	SNP	ENST00000272217.2	37	CCDS1421.1																																																																																			.	.	none		0.677	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795		A	202113679	G	A	202113679	2	1	16	1	0	0	0	0	0	0	0	1	946	962	34	2		2	ARL8A	1	202113679	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	22261657	202113679	47136942	23	3988										
SYT14	255928	hgsc.bcm.edu	37	chr1	210334267	210334267	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcatgaaaagaaaagagatGataggctggatttctttagg	12	3	1	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:210334267G>C	ENST00000472886.1	+	8	1562	c.1548G>C	c.(1546-1548)atG>atC	p.M516I	SYT14_ENST00000422431.1_Missense_Mutation_p.M580I|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.M478I|SYT14_ENST00000534859.1_Missense_Mutation_p.M542I|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.M478I|SYT14_ENST00000367019.1_Missense_Mutation_p.M535I			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	516	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GAAAAGAGATGATAGGCTGGA	0.398																																					p.M580I		Atlas-SNP	.											.	SYT14	89	.	0			c.G1740C						PASS	.						139	134	135					1																	210334267		2203	4300	6503	SO:0001583	missense	255928	exon10			AGAGATGATAGGC	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1548G>C	1.37:g.210334267G>C	ENSP00000418901:p.Met516Ile	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	151	26	0.172185	NM_001146261	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747320	0.49257	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.039837	0.85682	D	0.000000	T	0.61999	0.2392	L	0.39397	1.21	0.80722	D	1	B;B;B;B	0.24426	0.1;0.057;0.103;0.082	B;B;B;B	0.29077	0.098;0.042;0.059;0.087	T	0.55250	-0.8170	10	0.21014	T	0.42	-22.5444	19.8284	0.96626	0.0:0.0:1.0:0.0	.	563;516;535;580	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	I	580;542;478;535;516;478	ENSP00000389039:M580I;ENSP00000442891:M542I;ENSP00000437423:M478I;ENSP00000355986:M535I;ENSP00000418901:M516I;ENSP00000355982:M478I	ENSP00000355982:M478I	M	+	3	0	SYT14	208400890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.751000	0.94390	0.585000	0.79938	ATG	.	.	none		0.398	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		C	210334267	G	C	210334267	3	2	16	1	0	0	0	0	1	0	0	0	15467	1290	45	4	1778	4	SYT14	1	210334267	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	8220588	210334267	38916354	24	3989										
PPP2R5A	5525	hgsc.bcm.edu	37	chr1	212506921	212506921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggatgaacccacgcttgaggCctcttggcctcacatacagg	11	13	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:212506921C>T	ENST00000261461.2	+	3	1035	c.461C>T	c.(460-462)gCc>gTc	p.A154V	PPP2R5A_ENST00000498129.2_3'UTR|RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.A97V	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	154					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ACGCTTGAGGCCTCTTGGCCT	0.373																																					p.A154V		Atlas-SNP	.											PPP2R5A,NS,carcinoma,+1,1	PPP2R5A	48	1	0			c.C461T						scavenged	.						91	87	88					1																	212506921		2203	4300	6503	SO:0001583	missense	5525	exon3			TTGAGGCCTCTTG	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.461C>T	1.37:g.212506921C>T	ENSP00000261461:p.Ala154Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	141	2	0.0141844	NM_006243	B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829345	0.50845	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.29	5.29	0.74685	Armadillo-type fold (1);	0.047406	0.85682	D	0.000000	T	0.55417	0.1919	L	0.41710	1.295	0.58432	D	0.999995	B;B	0.27264	0.068;0.173	B;B	0.23852	0.028;0.049	T	0.50915	-0.8771	9	0.29301	T	0.29	-4.8806	18.9315	0.92568	0.0:1.0:0.0:0.0	.	97;154	B7Z7L2;Q15172	.;2A5A_HUMAN	V	154;154;97	.	ENSP00000261461:A154V	A	+	2	0	PPP2R5A	210573544	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.861000	0.69553	2.489000	0.83994	0.555000	0.69702	GCC	.	.	none		0.373	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		T	212506921	C	T	212506921	3	4	16	1	0	0	0	0	1	0	0	0	12392	739	26	2	471	2	PPP2R5A	1	212506921	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2172654	212506921	36743700	25	3990										
PARP1	142	hgsc.bcm.edu	37	chr1	226573325	226573325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aagaccagctgacccgagcaTtcctcgcagggaaggagggc	14	12	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:226573325T>C	ENST00000366794.5	-	7	1034	c.891A>G	c.(889-891)gaA>gaG	p.E297E		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	297					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GACCCGAGCATTCCTCGCAGG	0.562								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.E297E		Atlas-SNP	.											.	PARP1	100	.	0			c.A891G						PASS	.						115	98	103					1																	226573325		2203	4300	6503	SO:0001819	synonymous_variant	142	exon7			CGAGCATTCCTCG	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.891A>G	1.37:g.226573325T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	108	5	0.0462963	NM_001618	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																			.	.	none		0.562	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		C	226573325	T	C	226573325	2	2	16	1	0	0	0	0	0	0	0	1	11454	1490	52	2		2	PARP1	1	226573325	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	14066404	226573325	22677296	26	3991										
C1orf57	84284	hgsc.bcm.edu	37	chr1	233113956	233113956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctgccagatatcgtgacgtgCgtgcagagcagcaggaagtg	15	9	0	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:233113956C>T	ENST00000366628.5	+	5	639	c.552C>T	c.(550-552)tgC>tgT	p.C184C	NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	184						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						TCGTGACGTGCGTGCAGAGCA	0.537																																					p.C184C		Atlas-SNP	.											.	NTPCR	15	.	0			c.C552T						PASS	.						111	88	96					1																	233113956		2203	4300	6503	SO:0001819	synonymous_variant	84284	exon5			GACGTGCGTGCAG	BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"human cancer-related NTPase"		"chromosome 1 open reading frame 57"	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.552C>T	1.37:g.233113956C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	89	4	0.0449438	NM_032324		Silent	SNP	ENST00000366628.5	37	CCDS1597.1																																																																																			.	.	none		0.537	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324		T	233113956	C	T	233113956	2	4	16	1	0	0	0	0	0	0	0	1	2049	776	27	1		1	C1orf57	1	233113956	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6540631	233113956	16136665	27	3992										
ACTN2	88	hgsc.bcm.edu	37	chr1	236923039	236923039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aacagaggaagaatggcctgAtggatcatgaggatttcaga	13	5	2	5			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:236923039A>T	ENST00000366578.4	+	19	2483	c.2317A>T	c.(2317-2319)Atg>Ttg	p.M773L	ACTN2_ENST00000542672.1_Missense_Mutation_p.M773L|ACTN2_ENST00000546208.1_Missense_Mutation_p.M267L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	773	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAATGGCCTGATGGATCATGA	0.413																																					p.M773L		Atlas-SNP	.											ACTN2,rectum,carcinoma,-2,1	ACTN2	191	1	0			c.A2317T						scavenged	.						149	133	139					1																	236923039		2203	4300	6503	SO:0001583	missense	88	exon19			GGCCTGATGGATC	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2317A>T	1.37:g.236923039A>T	ENSP00000355537:p.Met773Leu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	7.321	0.617034	0.14129	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.75704	-0.96;-0.96;-0.96	5.41	4.21	0.49690	EF-hand-like domain (1);	0.036669	0.85682	D	0.000000	T	0.37489	0.1005	N	0.00608	-1.33	0.50813	D	0.999896	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.003;0.002	T	0.50303	-0.8844	10	0.02654	T	1	.	11.266	0.49110	0.8633:0.0:0.0:0.1367	.	558;773;543;773	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	L	773;773;267;542	ENSP00000443495:M773L;ENSP00000355537:M773L;ENSP00000438384:M267L	ENSP00000355537:M773L	M	+	1	0	ACTN2	234989662	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.098000	0.76974	2.055000	0.61198	0.533000	0.62120	ATG	.	.	none		0.413	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236923039	A	T	236923039	3	4	16	1	0	0	0	0	1	0	0	0	205	333	12	5	2391	5	ACTN2	1	236923039	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3809083	236923039	12327582	28	3993										
MTR	4548	hgsc.bcm.edu	37	chr1	237057789	237057789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggtagaagagctgagcaagGcctatgaggatgatggtgac	17	5	0	6	rs146071220	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:237057789G>A	ENST00000366577.5	+	30	3731	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	MTR_ENST00000535889.1_Missense_Mutation_p.A1062T|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1113	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTGAGCAAGGCCTATGAGGA	0.592													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17936	0.0		0.0	False		,,,				2504	0.0				p.A1113T		Atlas-SNP	.											MTR,NS,carcinoma,-1,1	MTR	127	1	0			c.G3337A						scavenged	.	G	THR/ALA	31,4375	37.6+/-69.7	0,31,2172	131	106	115		3337	2.7	0.8	1	dbSNP_134	115	0,8600		0,0,4300	yes	missense	MTR	NM_000254.2	58	0,31,6472	AA,AG,GG		0.0,0.7036,0.2384	benign	1113/1266	237057789	31,12975	2203	4300	6503	SO:0001583	missense	4548	exon30			AGCAAGGCCTATG	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3337G>A	1.37:g.237057789G>A	ENSP00000355536:p.Ala1113Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	81	3	0.037037	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	14.58	2.577977	0.45902	0.007036	0.0	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.76316	-1.01;-1.01;-1.01	5.57	2.68	0.31781	Vitamin B12-dependent methionine synthase, activation domain (4);	0.415672	0.26532	N	0.023857	T	0.57710	0.2072	L	0.33710	1.025	0.27679	N	0.946491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49661	-0.8916	10	0.27785	T	0.31	-7.5278	11.6366	0.51207	0.1958:0.0:0.8042:0.0	.	1113;1062;1113	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	T	967;1113;1062;667	ENSP00000355536:A1113T;ENSP00000441845:A1062T;ENSP00000355535:A667T	ENSP00000355535:A667T	A	+	1	0	MTR	235124412	0.998000	0.40836	0.812000	0.32479	0.975000	0.68041	1.627000	0.37050	0.397000	0.25310	-0.119000	0.15052	GCC	G|0.997;A|0.003	0.003	strong		0.592	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		A	237057789	G	A	237057789	3	1	16	1	0	0	0	0	1	0	0	0	9958	1203	42	2	3455	2	MTR	1	237057789	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	134750	237057789	12192832	29	3994										
OR2L2	26246	hgsc.bcm.edu	37	chr1	248201941	248201941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcctatgatcgttatgtggcCatttgctttcctctccacta	7	12	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr1:248201941C>T	ENST00000366479.2	+	1	468	c.372C>T	c.(370-372)gcC>gcT	p.A124A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTATGTGGCCATTTGCTTTC	0.443																																					p.A124A		Atlas-SNP	.											OR2L2,NS,carcinoma,+1,1	OR2L2	115	1	0			c.C372T						scavenged	.						164	144	151					1																	248201941		2203	4300	6503	SO:0001819	synonymous_variant	26246	exon1			TGTGGCCATTTGC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.372C>T	1.37:g.248201941C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	218	3	0.0137615	NM_001004686	Q2M3T5	Silent	SNP	ENST00000366479.2	37	CCDS31103.1																																																																																			.	.	none		0.443	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248201941	C	T	248201941	2	4	16	1	0	0	0	0	0	0	0	1	11007	581	21	2		2	OR2L2	1	248201941	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	11144152	248201941	1048680	30	3995										
KRTCAP3	200634	hgsc.bcm.edu	37	chr2	27666008	27666008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgcctgctccctgggcctccTtcttgctgtgtcactcactg	9	16	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:27666008T>C	ENST00000543753.1	+	4	388	c.341T>C	c.(340-342)cTt>cCt	p.L114P	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L114P|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L96P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	114						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CTGGGCCTCCTTCTTGCTGTG	0.627																																					p.L114P		Atlas-SNP	.											.	KRTCAP3	12	.	0			c.T341C						PASS	.						138	144	142					2																	27666008		2203	4300	6503	SO:0001583	missense	200634	exon4			GCCTCCTTCTTGC	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.341T>C	2.37:g.27666008T>C	ENSP00000442400:p.Leu114Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_173853	B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014958	0.75161	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.51071	0.72;0.72;0.72	5.77	5.77	0.91146	.	0.187045	0.47093	D	0.000255	T	0.64461	0.2600	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67925	-0.5544	10	0.87932	D	0	-14.8246	10.1184	0.42605	0.0:0.0789:0.0:0.9211	.	114	Q53RY4	KCP3_HUMAN	P	114;114;96	ENSP00000442400:L114P;ENSP00000288873:L114P;ENSP00000384689:L96P	ENSP00000288873:L114P	L	+	2	0	KRTCAP3	27519512	0.998000	0.40836	0.993000	0.49108	0.893000	0.52053	3.967000	0.56802	2.201000	0.70794	0.459000	0.35465	CTT	.	.	none		0.627	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		C	27666008	T	C	27666008	3	2	16	1	0	0	0	0	1	0	0	0	8579	1609	56	3	355	3	KRTCAP3	2	27666008	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10		27666008	215533365	31	3996										
LTBP1	4052	hgsc.bcm.edu	37	chr2	33614282	33614282	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cagctgtgtaacatccccgtGacgggacgccggcagccata	12	14	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:33614282G>C	ENST00000404816.2	+	32	5096	c.4743G>C	c.(4741-4743)gtG>gtC	p.V1581V	LTBP1_ENST00000407925.1_Silent_p.V1255V|LTBP1_ENST00000418533.2_Silent_p.V1213V|LTBP1_ENST00000354476.3_Silent_p.V1582V|LTBP1_ENST00000272273.5_Silent_p.V479V|LTBP1_ENST00000402934.1_Silent_p.V1200V|LTBP1_ENST00000404525.1_Silent_p.V1202V|LTBP1_ENST00000390003.4_Silent_p.V1256V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1581					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACATCCCCGTGACGGGACGCC	0.562																																					p.V1581V		Atlas-SNP	.											.	LTBP1	317	.	0			c.G4743C						PASS	.						115	103	107					2																	33614282		2203	4300	6503	SO:0001819	synonymous_variant	4052	exon32			CCCCGTGACGGGA		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4743G>C	2.37:g.33614282G>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	148	48	0.324324	NM_206943	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																			.	.	none		0.562	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		C	33614282	G	C	33614282	2	2	16	1	0	0	0	0	0	0	0	1	9073	1277	45	4		4	LTBP1	2	33614282	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5948274	33614282	209585091	32	3997										
USP34	9736	hgsc.bcm.edu	37	chr2	61454211	61454211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aaacatttcacctttctgatCgagactgttcaaccaaaaga	5	10	3	3	rs371000877		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:61454211C>T	ENST00000398571.2	-	62	7662	c.7586G>A	c.(7585-7587)cGa>cAa	p.R2529Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2529					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R2529Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTTCTGATCGAGACTGTTC	0.348																																					p.R2529Q		Atlas-SNP	.											USP34,rectum,carcinoma,0,1	USP34	334	1	1	Substitution - Missense(1)	large_intestine(1)	c.G7586A						scavenged	.	C	GLN/ARG	0,3694		0,0,1847	110	97	101		7586	5.3	1	2		101	1,8171		0,1,4085	no	missense	USP34	NM_014709.3	43	0,1,5932	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2529/3547	61454211	1,11865	1847	4086	5933	SO:0001583	missense	9736	exon62			TCTGATCGAGACT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7586G>A	2.37:g.61454211C>T	ENSP00000381577:p.Arg2529Gln	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	203	3	0.0147783	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644478	0.96704	0.0	1.22E-4	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.05513	3.77;3.43	5.29	5.29	0.74685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	L	0.59436	1.845	0.80722	D	1	P	0.47409	0.895	B	0.40940	0.344	T	0.02053	-1.1222	10	0.62326	D	0.03	.	18.9386	0.92597	0.0:1.0:0.0:0.0	.	2529	Q70CQ2	UBP34_HUMAN	Q	2377;2377;2529;807	ENSP00000381577:R2529Q;ENSP00000410559:R807Q	ENSP00000263989:R2377Q	R	-	2	0	USP34	61307715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.478000	0.83669	0.650000	0.86243	CGA	.	.	weak		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61454211	C	T	61454211	3	4	16	1	0	0	0	0	1	0	0	0	17062	884	31	1	3130	1	USP34	2	61454211	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	27839929	61454211	181745162	33	3998										
DYSF	8291	hgsc.bcm.edu	37	chr2	71909727	71909727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgaagttcatcctgtggcggCgtttccggtgggccatcatc	13	11	2	1	rs121908955		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:71909727C>T	ENST00000258104.3	+	54	6401	c.6124C>T	c.(6124-6126)Cgt>Tgt	p.R2042C	DYSF_ENST00000413539.2_Missense_Mutation_p.R2073C|DYSF_ENST00000409366.1_Missense_Mutation_p.R2064C|DYSF_ENST00000409744.1_Missense_Mutation_p.R2050C|DYSF_ENST00000394120.2_Missense_Mutation_p.R2043C|DYSF_ENST00000409651.1_Missense_Mutation_p.R2074C|DYSF_ENST00000409582.3_Missense_Mutation_p.R2080C|DYSF_ENST00000410020.3_Missense_Mutation_p.R2081C|DYSF_ENST00000410041.1_Missense_Mutation_p.R2060C|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R2063C|DYSF_ENST00000409762.1_Missense_Mutation_p.R2059C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2042			R -> C (in MMD1, LGMD2B and proximodistal myopathy). {ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:16996541, ECO:0000269|PubMed:18853459, ECO:0000269|PubMed:9731526}.		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						CCTGTGGCGGCGTTTCCGGTG	0.582																																					p.R2081C		Atlas-SNP	.											DYSF_ENST00000410020,NS,carcinoma,-1,2	DYSF	536	2	0			c.C6241T	GRCh37	CM980578	DYSF	M	rs121908955	scavenged	.						177	127	144					2																	71909727		2203	4300	6503	SO:0001583	missense	8291	exon55			TGGCGGCGTTTCC	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.6124C>T	2.37:g.71909727C>T	ENSP00000258104:p.Arg2042Cys	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	199	4	0.0201005	NM_001130987	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830707	0.71258	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.1	3.16	0.36331	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.84219	2.685	0.58432	A	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.993;0.999;0.999;0.999;0.999;0.996;0.993;0.998;0.993;0.999;0.983;0.988;0.999;0.999;0.999	D	0.93138	0.6539	9	0.72032	D	0.01	-16.4755	11.5496	0.50713	0.4234:0.5766:0.0:0.0	.	806;2074;2081;2064;2029;2060;2050;2059;2049;2073;2080;2063;2028;2043;2042	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	C	2073;2059;2080;2063;2042;2074;2043;2050;2064;2081;2060	ENSP00000407046:R2073C;ENSP00000387137:R2059C;ENSP00000386547:R2080C;ENSP00000398305:R2063C;ENSP00000258104:R2042C;ENSP00000386683:R2074C;ENSP00000377678:R2043C;ENSP00000386285:R2050C;ENSP00000386512:R2064C;ENSP00000386881:R2081C;ENSP00000386617:R2060C	ENSP00000258104:R2042C	R	+	1	0	DYSF	71763235	0.997000	0.39634	0.994000	0.49952	0.994000	0.84299	1.016000	0.29976	1.232000	0.43678	0.655000	0.94253	CGT	.	.	weak		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71909727	C	T	71909727	3	4	16	1	0	0	0	0	1	0	0	0	4859	768	27	1	6597	1	DYSF	2	71909727	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	10455516	71909727	171289646	34	3999										
INPP4A	3631	hgsc.bcm.edu	37	chr2	99193602	99193602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cccaggccctggagtgcatgCgcaggtgagtgccgcagcca	15	14	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:99193602C>T	ENST00000523221.1	+	23	2797	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	INPP4A_ENST00000409463.1_Missense_Mutation_p.R262C|INPP4A_ENST00000409851.3_Missense_Mutation_p.R928C|INPP4A_ENST00000409540.3_Missense_Mutation_p.R894C|INPP4A_ENST00000409016.4_Missense_Mutation_p.R894C|INPP4A_ENST00000074304.5_Missense_Mutation_p.R933C|INPP4A_ENST00000545415.1_Missense_Mutation_p.R894C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	933					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGTGCATGCGCAGGTGAGT	0.677																																					p.R933C		Atlas-SNP	.											INPP4A_ENST00000409540,NS,carcinoma,0,3	INPP4A	205	3	0			c.C2797T						scavenged	.						22	25	24					2																	99193602		2130	4228	6358	SO:0001583	missense	3631	exon25			TGCATGCGCAGGT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2797C>T	2.37:g.99193602C>T	ENSP00000427722:p.Arg933Cys	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	2	0.0327869	NM_001134224	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313426	0.81358	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.63096	0.37;0.76;-0.02;0.76;0.37;0.4;0.76	4.71	3.76	0.43208	.	0.052546	0.85682	D	0.000000	T	0.81004	0.4733	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.999;0.999	D	0.84449	0.0587	10	0.87932	D	0	-17.0482	12.1237	0.53905	0.2186:0.7814:0.0:0.0	.	894;894;262;933;928	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	C	894;928;262;933;894;894;933	ENSP00000386704:R894C;ENSP00000386777:R928C;ENSP00000386329:R262C;ENSP00000074304:R933C;ENSP00000442149:R894C;ENSP00000387294:R894C;ENSP00000427722:R933C	ENSP00000074304:R933C	R	+	1	0	INPP4A	98560034	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.116000	0.50399	2.460000	0.83146	0.462000	0.41574	CGC	.	.	none		0.677	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		T	99193602	C	T	99193602	3	4	16	1	0	0	0	0	1	0	0	0	7752	768	27	1	2887	1	INPP4A	2	99193602	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	27283875	99193602	144005771	35	4000										
UXS1	80146	hgsc.bcm.edu	37	chr2	106729179	106729179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttcatgtgcatgcgtggccCaaaggtgttgaagattctgg	14	7	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:106729179C>T	ENST00000409501.3	-	10	844	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	UXS1_ENST00000540130.1_Missense_Mutation_p.G206R|UXS1_ENST00000409032.1_Missense_Mutation_p.G95R|UXS1_ENST00000283148.7_Missense_Mutation_p.G268R|UXS1_ENST00000428048.2_Missense_Mutation_p.G107R			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	263					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGCGTGGCCCAAAGGTGTTG	0.602																																					p.G268R		Atlas-SNP	.											.	UXS1	75	.	0			c.G802A						PASS	.						72	74	74					2																	106729179		2106	4232	6338	SO:0001583	missense	80146	exon10			GTGGCCCAAAGGT	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.787G>A	2.37:g.106729179C>T	ENSP00000387019:p.Gly263Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	65	10	0.153846	NM_001253875	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081668	0.94050	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193	D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.25	5.25	0.73442	NAD-dependent epimerase/dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.99964	5.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96850	0.9624	10	0.87932	D	0	.	18.4398	0.90662	0.0:1.0:0.0:0.0	.	107;268;263	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	R	268;206;263;95;107;107;95;95	ENSP00000283148:G268R;ENSP00000438265:G206R;ENSP00000387019:G263R;ENSP00000387096:G95R;ENSP00000394334:G107R;ENSP00000416656:G107R;ENSP00000403612:G95R;ENSP00000404468:G95R	ENSP00000283148:G268R	G	-	1	0	UXS1	106095611	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	6.730000	0.74780	2.452000	0.82932	0.561000	0.74099	GGG	.	.	none		0.602	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		T	106729179	C	T	106729179	3	4	16	1	0	0	0	0	1	0	0	0	17106	594	21	2	499	2	UXS1	2	106729179	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7535577	106729179	136470194	36	4001										
LIMS1	3987	hgsc.bcm.edu	37	chr2	109300340	109300340	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tttataattttttgtctttaGgaataagtttgtggagtttg	9	1	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:109300340G>A	ENST00000393310.1	+	10	1030		c.e10-1		LIMS1_ENST00000332345.6_Splice_Site|LIMS1_ENST00000542845.1_Splice_Site|LIMS1_ENST00000410093.1_Splice_Site|LIMS1_ENST00000338045.3_Splice_Site|LIMS1_ENST00000409441.1_Splice_Site|LIMS1_ENST00000544547.1_Splice_Site	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1						cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TTTGTCTTTAGGAATAAGTTT	0.323																																					.		Atlas-SNP	.											.	LIMS1	38	.	0			c.900-1G>A						PASS	.						52	55	54					2																	109300340		2200	4299	6499	SO:0001630	splice_region_variant	3987	exon10			TCTTTAGGAATAA		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.864-1G>A	2.37:g.109300340G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	202	46	0.227723	NM_001193483	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Splice_Site	SNP	ENST00000393310.1	37	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573303	0.86542	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIMS1	108666772	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.827000	0.99397	2.873000	0.98535	0.563000	0.77884	.	.	.	none		0.323	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987	Intron	A	109300340	G	A	109300340	5	1	16	1	0	0	0	0	0	0	1	0	8803	1014	35	2	897	2	LIMS1	2	109300340	Splice_Site	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2571161	109300340	133899033	37	4002										
INHBB	3625	hgsc.bcm.edu	37	chr2	121107185	121107185	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cctcatcggctggaacgactGgatcatagcacccaccggct	10	15	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:121107185G>A	ENST00000295228.3	+	2	1005	c.959G>A	c.(958-960)tGg>tAg	p.W320*		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	320					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGGAACGACTGGATCATAGCA	0.622																																					p.W320X		Atlas-SNP	.											INHBB,NS,malignant_melanoma,-1,1	INHBB	29	1	0			c.G959A						PASS	.						78	75	76					2																	121107185		2203	4300	6503	SO:0001587	stop_gained	3625	exon2			ACGACTGGATCAT		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.959G>A	2.37:g.121107185G>A	ENSP00000295228:p.Trp320*	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_002193	Q53T31|Q8N1D3	Nonsense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144622	0.57044	.	.	ENSG00000163083	ENST00000295228	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.61	16.4938	0.84209	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000295228:W320X	W	+	2	0	INHBB	120823655	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	9.507000	0.97996	2.495000	0.84180	0.563000	0.77884	TGG	.	.	none		0.622	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			A	121107185	G	A	121107185	4	1	16	1	0	0	0	0	0	1	0	0	7742	1357	47	2	965	2	INHBB	2	121107185	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	11806845	121107185	122092188	38	4003										
CNTNAP5	129684	hgsc.bcm.edu	37	chr2	125555738	125555738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttcaagaaccctatcctgtgAccaagaatataagcctctca	5	12	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:125555738A>G	ENST00000431078.1	+	19	3419	c.3055A>G	c.(3055-3057)Acc>Gcc	p.T1019A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1019	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATCCTGTGACCAAGAATAT	0.443																																					p.T1019A		Atlas-SNP	.											CNTNAP5,NS,carcinoma,-2,1	CNTNAP5	405	1	0			c.A3055G						scavenged	.						141	131	134					2																	125555738		1924	4119	6043	SO:0001583	missense	129684	exon19			CCTGTGACCAAGA	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3055A>G	2.37:g.125555738A>G	ENSP00000399013:p.Thr1019Ala	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	179	3	0.0167598	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	9.807	1.182229	0.21787	.	.	ENSG00000155052	ENST00000431078	T	0.44482	0.92	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.124353	0.35040	N	0.003483	T	0.26412	0.0645	N	0.25789	0.76	0.32824	D	0.50315	B	0.09022	0.002	B	0.08055	0.003	T	0.27640	-1.0068	10	0.07030	T	0.85	.	10.7519	0.46213	0.8583:0.0:0.0:0.1417	.	1019	Q8WYK1	CNTP5_HUMAN	A	1019	ENSP00000399013:T1019A	ENSP00000399013:T1019A	T	+	1	0	CNTNAP5	125272208	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	3.684000	0.54671	2.271000	0.75665	0.533000	0.62120	ACC	.	.	none		0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125555738	A	G	125555738	3	3	16	1	0	0	0	0	1	0	0	0	3650	275	10	2	3129	2	CNTNAP5	2	125555738	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	4448553	125555738	117643635	39	4004										
ABCB11	8647	hgsc.bcm.edu	37	chr2	169830315	169830315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cctaccagagctgtcatttcCcctggtttaatgaccatgtt	7	12	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:169830315C>T	ENST00000263817.6	-	13	1468	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	448	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTGTCATTTCCCCTGGTTTAA	0.433																																					p.G448G		Atlas-SNP	.											ABCB11,NS,carcinoma,-1,1	ABCB11	136	1	0			c.G1344A						scavenged	.						146	139	141					2																	169830315		1872	4111	5983	SO:0001819	synonymous_variant	8647	exon13			CATTTCCCCTGGT	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1344G>A	2.37:g.169830315C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	166	3	0.0180723	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																			.	.	none		0.433	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		T	169830315	C	T	169830315	2	4	16	1	0	0	0	0	0	0	0	1	42	610	22	2		2	ABCB11	2	169830315	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	44274577	169830315	73369058	40	4005										
PRKRA	8575	hgsc.bcm.edu	37	chr2	179300871	179300871	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccaaagaaaaaaaaatcataCctatatccaaatatgttata	2	7	1	1	rs200649428		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:179300871C>T	ENST00000325748.4	-	7	985		c.e7+1		PRKRA_ENST00000487082.1_Splice_Site|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AAAAATCATACCTATATCCAA	0.294																																					.	Melanoma(200;68 3001 23825 48764)	Atlas-SNP	.											PRKRA,caecum,carcinoma,0,1	PRKRA	56	1	0			c.709+1G>A						scavenged	.						64	72	69					2																	179300871		2203	4299	6502	SO:0001630	splice_region_variant	8575	exon8			ATCATACCTATAT	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.784+1G>A	2.37:g.179300871C>T		Somatic	46	3	0.0652174		WXS	Illumina HiSeq	Phase_I	46	7	0.152174	NM_001139518	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432561	0.83776	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9579	0.86264	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179009117	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.411000	0.73298	2.739000	0.93911	0.655000	0.94253	.	.	.	weak		0.294	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	Intron	T	179300871	C	T	179300871	5	4	16	1	0	0	0	0	0	0	1	0	12524	521	18	2	164	2	PRKRA	2	179300871	Splice_Site	SNP	C	TCGA-FF-8062-01A-11D-2210-10	9470556	179300871	63898502	41	4006										
SSFA2	6744	hgsc.bcm.edu	37	chr2	182792918	182792918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctattgttggggaaatcagaCgggaaattgtaagtggactt	13	4	1	1	rs201351475		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:182792918C>T	ENST00000431877.2	+	17	3885	c.3706C>T	c.(3706-3708)Cgg>Tgg	p.R1236W	SSFA2_ENST00000320370.7_Intron|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1214W|SSFA2_ENST00000428267.2_Missense_Mutation_p.R1061W|SSFA2_ENST00000409136.1_Missense_Mutation_p.R745W|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1236						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)			GGAAATCAGACGGGAAATTGT	0.299																																					p.R1236W		Atlas-SNP	.											SSFA2_ENST00000431877,colon,carcinoma,-1,1	SSFA2	130	1	0			c.C3706T						scavenged	.	C	TRP/ARG,	0,1384		0,0,692	155	144	147		3706,	3	1	2		147	2,3180		0,2,1589	yes	missense,intron	SSFA2	NM_001130445.1,NM_006751.5	101,	0,2,2281	TT,TC,CC		0.0629,0.0,0.0438	probably-damaging,	1236/1260,	182792918	2,4564	692	1591	2283	SO:0001583	missense	6744	exon17			ATCAGACGGGAAA	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.3706C>T	2.37:g.182792918C>T	ENSP00000388731:p.Arg1236Trp	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	258	3	0.0116279	NM_001130445	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895439	0.72639	0.0	6.29E-4	ENSG00000138434	ENST00000431877;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T	0.19806	2.35;2.32;2.32;2.12	5.9	3.04	0.35103	.	0.200831	0.43579	D	0.000556	T	0.20941	0.0504	M	0.73598	2.24	0.41843	D	0.990137	P;P;P;P	0.41710	0.534;0.76;0.534;0.534	B;B;B;B	0.32533	0.097;0.147;0.097;0.097	T	0.04153	-1.0973	10	0.87932	D	0	-6.1578	9.5016	0.39022	0.4755:0.4606:0.0:0.0639	.	1061;745;1214;1236	E7END2;E7EUL7;E9PHV5;P28290	.;.;.;SSFA2_HUMAN	W	1236;1214;1061;745	ENSP00000388731:R1236W;ENSP00000387319:R1214W;ENSP00000409867:R1061W;ENSP00000386916:R745W	ENSP00000387319:R1214W	R	+	1	2	SSFA2	182501163	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	0.948000	0.29096	0.352000	0.24053	0.650000	0.86243	CGG	.	.	weak		0.299	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		T	182792918	C	T	182792918	3	4	16	1	0	0	0	0	1	0	0	0	15182	527	19	1	3772	1	SSFA2	2	182792918	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3492047	182792918	60406455	42	4007										
ASNSD1	54529	hgsc.bcm.edu	37	chr2	190532027	190532027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agaattctctaaagatgttgCtgctgctgctgctgacagtc	10	9	1	3	rs140770284		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:190532027C>T	ENST00000260952.4	+	4	1582	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	390	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAAGATGTTGCTGCTGCTGCT	0.418																																					p.A390V		Atlas-SNP	.											ASNSD1,rectum,carcinoma,+1,1	ASNSD1	63	1	0			c.C1169T						scavenged	.						47	46	47					2																	190532027		2203	4300	6503	SO:0001583	missense	54529	exon4			ATGTTGCTGCTGC	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1169C>T	2.37:g.190532027C>T	ENSP00000260952:p.Ala390Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	105	3	0.0285714	NM_019048	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	3.934	-0.015602	0.07681	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.38722	1.12;1.12	5.13	2.2	0.27929	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.697413	0.14112	N	0.340663	T	0.27900	0.0687	L	0.28400	0.85	0.09310	N	1	P	0.35793	0.521	B	0.37650	0.255	T	0.15378	-1.0439	10	0.07030	T	0.85	-1.5679	10.0459	0.42186	0.4503:0.4376:0.1121:0.0	.	390	Q9NWL6	ASND1_HUMAN	V	390	ENSP00000260952:A390V;ENSP00000406790:A390V	ENSP00000260952:A390V	A	+	2	0	ASNSD1	190240272	0.001000	0.12720	0.005000	0.12908	0.196000	0.23810	0.144000	0.16135	0.263000	0.21812	0.655000	0.94253	GCT	.	.	none		0.418	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		T	190532027	C	T	190532027	3	4	16	1	0	0	0	0	1	0	0	0	1049	797	28	2	1171	2	ASNSD1	2	190532027	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7739109	190532027	52667346	43	4008										
HECW2	57520	hgsc.bcm.edu	37	chr2	197090577	197090577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttagtgcaagaccaaggatcCtaccactgaatcggaacctg	9	11	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:197090577C>T	ENST00000260983.3	-	23	4117	c.3935G>A	c.(3934-3936)aGg>aAg	p.R1312K	HECW2_ENST00000409111.1_Missense_Mutation_p.R956K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1312	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACCAAGGATCCTACCACTGAA	0.423																																					p.R1312K		Atlas-SNP	.											HECW2,colon,carcinoma,0,1	HECW2	239	1	0			c.G3935A						scavenged	.						130	103	112					2																	197090577		2203	4300	6503	SO:0001583	missense	57520	exon23			AGGATCCTACCAC	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3935G>A	2.37:g.197090577C>T	ENSP00000260983:p.Arg1312Lys	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406414	0.96051	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.55588	0.51;0.51	5.17	5.17	0.71159	HECT (4);	0.102624	0.64402	D	0.000002	T	0.69682	0.3138	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.71745	-0.4500	10	0.87932	D	0	.	18.8684	0.92303	0.0:1.0:0.0:0.0	.	1312	Q9P2P5	HECW2_HUMAN	K	956;1312	ENSP00000386775:R956K;ENSP00000260983:R1312K	ENSP00000260983:R1312K	R	-	2	0	HECW2	196798822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.701000	0.92244	0.561000	0.74099	AGG	.	.	none		0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197090577	C	T	197090577	3	4	16	1	0	0	0	0	1	0	0	0	7043	681	24	2	811	2	HECW2	2	197090577	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6558550	197090577	46108796	44	4009										
HECW2	57520	hgsc.bcm.edu	37	chr2	197092929	197092929	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ataatatgggttaaagagttCtctggataccaggaagaaaa	10	4	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:197092929C>A	ENST00000260983.3	-	22	3996	c.3814G>T	c.(3814-3816)Gaa>Taa	p.E1272*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.E916*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1272	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTAAAGAGTTCTCTGGATACC	0.348																																					p.E1272X		Atlas-SNP	.											.	HECW2	239	.	0			c.G3814T						PASS	.						83	86	85					2																	197092929		2203	4300	6503	SO:0001587	stop_gained	57520	exon22			AGAGTTCTCTGGA	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3814G>T	2.37:g.197092929C>A	ENSP00000260983:p.Glu1272*	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	216	60	0.277778	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	45	11.371157	0.99552	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	.	.	.	X	916;1272	.	ENSP00000260983:E1272X	E	-	1	0	HECW2	196801174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.828000	0.97474	0.655000	0.94253	GAA	.	.	none		0.348	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197092929	C	A	197092929	4	1	16	1	0	0	0	0	0	1	0	0	7043	922	32	4	936	4	HECW2	2	197092929	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2352	197092929	46106444	45	4010										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	283	5	0.0176678	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	16	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1270605	198363534	44835839	46	4011										
TTLL4	9654	hgsc.bcm.edu	37	chr2	219602439	219602439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcactatagtattggcctcCgccagaaaaacagcttcaag	8	11	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:219602439C>T	ENST00000392102.1	+	3	380	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	TTLL4_ENST00000258398.4_Missense_Mutation_p.R14C|TTLL4_ENST00000442769.1_Missense_Mutation_p.R14C|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	14					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TATTGGCCTCCGCCAGAAAAA	0.592																																					p.R14C	GBM(172;1818 2053 15407 20943 49753)	Atlas-SNP	.											.	TTLL4	96	.	0			c.C40T						PASS	.						57	57	57					2																	219602439		2203	4300	6503	SO:0001583	missense	9654	exon3			GGCCTCCGCCAGA		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.40C>T	2.37:g.219602439C>T	ENSP00000375951:p.Arg14Cys	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	120	17	0.141667	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	c	7.873	0.728577	0.15507	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.32	0.493	0.16878	.	0.620848	0.15371	N	0.265860	T	0.14141	0.0342	N	0.20986	0.625	0.28758	N	0.901088	B;B	0.13145	0.004;0.007	B;B	0.04013	0.001;0.001	T	0.14476	-1.0471	10	0.87932	D	0	.	4.2465	0.10674	0.1639:0.4106:0.0:0.4255	.	14;14	E7EX20;Q14679	.;TTLL4_HUMAN	C	14	ENSP00000411228:R14C;ENSP00000375951:R14C;ENSP00000391342:R14C;ENSP00000396555:R14C;ENSP00000405485:R14C;ENSP00000258398:R14C	ENSP00000258398:R14C	R	+	1	0	TTLL4	219310683	0.139000	0.22563	0.923000	0.36655	0.461000	0.32589	-0.000000	0.12993	0.011000	0.14865	-0.970000	0.02610	CGC	.	.	none		0.592	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219602439	C	T	219602439	3	4	16	1	0	0	0	0	1	0	0	0	16726	652	23	1	42	1	TTLL4	2	219602439	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	21238905	219602439	23596934	47	4012										
DNER	92737	hgsc.bcm.edu	37	chr2	230253013	230253013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgctcccacccaaccatgcGggcagtggcagttataacca	9	14	0	0	rs368405241		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:230253013G>A	ENST00000341772.4	-	11	1957	c.1823C>T	c.(1822-1824)cCg>cTg	p.P608L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	608	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.P608L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCAACCATGCGGGCAGTGGCA	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14257	0.0		0.0	False		,,,				2504	0.0				p.P608L		Atlas-SNP	.											DNER,NS,carcinoma,0,1	DNER	129	1	1	Substitution - Missense(1)	endometrium(1)	c.C1823T						scavenged	.						140	138	139					2																	230253013		2203	4300	6503	SO:0001583	missense	92737	exon11			CCATGCGGGCAGT	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1823C>T	2.37:g.230253013G>A	ENSP00000345229:p.Pro608Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	81	3	0.037037	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698903	0.88830	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.89746	-2.56	5.65	5.65	0.86999	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91456	0.5185	10	0.44086	T	0.13	.	19.3285	0.94273	0.0:0.0:1.0:0.0	.	608	Q8NFT8	DNER_HUMAN	L	608;326	ENSP00000345229:P608L	ENSP00000345229:P608L	P	-	2	0	DNER	229961257	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	7.129000	0.77225	2.661000	0.90470	0.637000	0.83480	CCG	.	.	alt		0.473	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		A	230253013	G	A	230253013	3	1	16	1	0	0	0	0	1	0	0	0	4667	1116	39	1	402	1	DNER	2	230253013	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	10650574	230253013	12946360	48	4013										
SP140	11262	hgsc.bcm.edu	37	chr2	231102990	231102990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgatgtattgtgtactcagTgaactggagaagacatttgg	13	4	1	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:231102990T>G	ENST00000392045.3	+	3	414	c.300T>G	c.(298-300)agT>agG	p.S100R	SP140_ENST00000420434.3_Missense_Mutation_p.S100R|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Missense_Mutation_p.S100R|SP140_ENST00000486687.2_Missense_Mutation_p.S100R|SP140_ENST00000373645.3_Missense_Mutation_p.S100R|SP140_ENST00000417495.3_Missense_Mutation_p.S100R|SP140_ENST00000350136.5_Missense_Mutation_p.S80R	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	100	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGTACTCAGTGAACTGGAGA	0.388																																					p.S100R		Atlas-SNP	.											.	SP140	121	.	0			c.T300G						PASS	.						127	117	120					2																	231102990		2203	4300	6503	SO:0001583	missense	11262	exon3			ACTCAGTGAACTG	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.300T>G	2.37:g.231102990T>G	ENSP00000375899:p.Ser100Arg	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	230	51	0.221739	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856712	0.32791	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	3.7	-4.24	0.03777	Sp100 (2);	.	.	.	.	D	0.92792	0.7708	M	0.68317	2.08	0.09310	N	1	B;B;B;P;B;B	0.41232	0.288;0.288;0.244;0.743;0.45;0.122	B;B;B;P;B;B	0.50192	0.148;0.148;0.092;0.634;0.243;0.063	D	0.85321	0.1084	9	0.87932	D	0	-2.9298	0.0805	0.00031	0.3142:0.2021:0.1609:0.3228	.	100;100;100;100;100;100	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	R	100;100;100;80;100;100;100;100;100	ENSP00000440107:S100R;ENSP00000345846:S80R;ENSP00000375899:S100R;ENSP00000342096:S100R;ENSP00000398210:S100R;ENSP00000362749:S100R	ENSP00000342096:S100R	S	+	3	2	SP140	230811234	0.000000	0.05858	0.001000	0.08648	0.793000	0.44817	-0.731000	0.04909	-0.792000	0.04480	0.533000	0.62120	AGT	.	.	none		0.388	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		G	231102990	T	G	231102990	3	3	16	1	0	0	0	0	1	0	0	0	14962	1693	59	5	310	5	SP140	2	231102990	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	849977	231102990	12096383	49	4014										
SP140	11262	hgsc.bcm.edu	37	chr2	231157487	231157487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcgctgtggcgggtggccccTacgatggctgatggaggtat	18	9	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:231157487T>C	ENST00000392045.3	+	20	2066	c.1952T>C	c.(1951-1953)cTa>cCa	p.L651P	SP140_ENST00000420434.3_Missense_Mutation_p.L624P|SP140_ENST00000343805.6_Missense_Mutation_p.L591P|SP140_ENST00000486687.2_Missense_Mutation_p.L575P|SP140_ENST00000417495.3_Missense_Mutation_p.L537P|SP140_ENST00000350136.5_Missense_Mutation_p.L520P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	651	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGGTGGCCCCTACGATGGCTG	0.488																																					p.L651P		Atlas-SNP	.											SP140_ENST00000392045,NS,carcinoma,+1,1	SP140	121	1	0			c.T1952C						scavenged	.						80	88	85					2																	231157487		1992	4136	6128	SO:0001583	missense	11262	exon20			GGCCCCTACGATG	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1952T>C	2.37:g.231157487T>C	ENSP00000375899:p.Leu651Pro	Somatic	113	20	0.176991		WXS	Illumina HiSeq	Phase_I	117	19	0.162393	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678190	0.47886	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	3.19	3.19	0.36642	SAND domain-like (2);SAND domain (3);	.	.	.	.	D	0.88485	0.6449	M	0.90369	3.11	0.27953	N	0.937061	D;D;D;D	0.89917	0.999;0.995;0.997;1.0	D;D;D;D	0.91635	0.997;0.979;0.994;0.999	T	0.79458	-0.1795	9	0.87932	D	0	-11.9146	8.4594	0.32919	0.0:0.0:0.0:1.0	.	624;537;591;651	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	P	575;520;651;537;591;624	ENSP00000440107:L575P;ENSP00000345846:L520P;ENSP00000375899:L651P;ENSP00000342096:L591P;ENSP00000398210:L624P	ENSP00000342096:L591P	L	+	2	0	SP140	230865731	0.621000	0.27077	0.012000	0.15200	0.417000	0.31264	3.422000	0.52749	1.438000	0.47492	0.369000	0.22263	CTA	.	.	none		0.488	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		C	231157487	T	C	231157487	3	2	16	1	0	0	0	0	1	0	0	0	14962	1522	53	3	2147	3	SP140	2	231157487	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	54497	231157487	12041886	50	4015										
UGT1A9	54600	hgsc.bcm.edu	37	chr2	234580967	234580967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aattgcaggagtttgtttaaAgacaaaaaattagtagaata	8	2	0	2	rs28946876	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.K129K|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																					p.K129K		Atlas-SNP	.											UGT1A9,colon,carcinoma,0,1	UGT1A9	79	1	0			c.A387G						scavenged	.						99	101	101					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600	exon1			GTTTAAAGACAAA	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G		Somatic	88	1	0.0113636		WXS	Illumina HiSeq	Phase_I	119	8	0.0672269	NM_021027	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																			.	.	alt		0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234580967	A	G	234580967	2	3	16	1	0	0	0	0	0	0	0	1	16949	69	3	3		3	UGT1A9	2	234580967	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3423480	234580967	8618406	51	4016										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242035741	242035741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcttatcaggggtttggtacCgtcccaggcgctccaggtaa	12	11	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:242035741C>T	ENST00000391980.2	-	4	876	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	MTERFD2_ENST00000406593.1_Missense_Mutation_p.R85Q|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		273					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)		GGTTTGGTACCGTCCCAGGCG	0.473																																					p.R273Q		Atlas-SNP	.											MTERFD2,NS,carcinoma,-1,1	MTERFD2	33	1	0			c.G818A						scavenged	.						139	136	137					2																	242035741		2203	4300	6503	SO:0001583	missense	130916	exon4			TGGTACCGTCCCA																												ENST00000391980.2:c.818G>A	2.37:g.242035741C>T	ENSP00000375840:p.Arg273Gln	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	149	2	0.0134228	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936503	0.52972	.	.	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.16324	2.46;2.35;2.64	5.71	4.78	0.61160	.	0.115400	0.39274	N	0.001406	T	0.40094	0.1103	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.05566	-1.0877	10	0.35671	T	0.21	0.3371	13.8133	0.63276	0.2234:0.7766:0.0:0.0	.	273	Q7Z6M4	MTER2_HUMAN	Q	273;85;126	ENSP00000375840:R273Q;ENSP00000384998:R85Q;ENSP00000414989:R126Q	ENSP00000241527:R273Q	R	-	2	0	MTERFD2	241684414	0.790000	0.28787	1.000000	0.80357	0.236000	0.25371	1.934000	0.40163	2.701000	0.92244	0.591000	0.81541	CGG	.	.	none		0.473	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			T	242035741	C	T	242035741	3	4	16	1	0	0	0	0	1	0	0	0	9920	652	23	1	331	1	MTERFD2	2	242035741	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7454774	242035741	1163632	52	4017										
HDLBP	3069	hgsc.bcm.edu	37	chr2	242192901	242192901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgtcttcgccctctgtgaaCtcgatgtgaacctaccacac	7	14	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr2:242192901C>T	ENST00000391975.1	-	10	1427	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	HDLBP_ENST00000391976.2_Silent_p.E400E|HDLBP_ENST00000310931.4_Silent_p.E400E|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Silent_p.E367E	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	400	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCTGTGAACTCGATGTGAA	0.527																																					p.E400E		Atlas-SNP	.											HDLBP,caecum,carcinoma,-2,1	HDLBP	118	1	0			c.G1200A						scavenged	.						164	142	150					2																	242192901		2203	4300	6503	SO:0001819	synonymous_variant	3069	exon10			TGTGAACTCGATG		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1200G>A	2.37:g.242192901C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	140	4	0.0285714	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.161|9.161	1.018677|1.018677	0.19355|0.19355	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000373292	.|.	.|.	.|.	5.76|5.76	3.73|3.73	0.42828|0.42828	.|.	.|.	.|.	.|.	.|.	T|T	0.55481|0.55481	0.1923|0.1923	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52510|0.52510	-0.8566|-0.8566	4|4	.|.	.|.	.|.	-26.6763|-26.6763	6.34|6.34	0.21316|0.21316	0.0:0.6769:0.0:0.3231|0.0:0.6769:0.0:0.3231	.|.	.|.	.|.	.|.	N|I	278|209	.|.	.|.	S|V	-|-	2|1	0|0	HDLBP|HDLBP	241841574|241841574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	1.341000|1.341000	0.33907|0.33907	1.447000|1.447000	0.47661|0.47661	0.655000|0.655000	0.94253|0.94253	AGT|GTT	.	.	none		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		T	242192901	C	T	242192901	2	4	16	1	0	0	0	0	0	0	0	1	7025	564	20	2		2	HDLBP	2	242192901	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	157160	242192901	1006472	53	4018										
RAF1	5894	hgsc.bcm.edu	37	chr3	12627290	12627290	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cactgttaagccttcatggaGaaatatatctcaatgcttgt	7	8	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:12627290G>A	ENST00000251849.4	-	14	1865	c.1426C>T	c.(1426-1428)Ctc>Ttc	p.L476F	RAF1_ENST00000542177.1_Missense_Mutation_p.L395F|RAF1_ENST00000534997.1_Missense_Mutation_p.L261F|RAF1_ENST00000442415.2_Missense_Mutation_p.L496F	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTTCATGGAGAAATATATCT	0.388			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.L476F		Atlas-SNP	.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	RAF1	66	.	0			c.C1426T						PASS	.						96	95	95					3																	12627290		2203	4300	6503	SO:0001583	missense	5894	exon14	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	CATGGAGAAATAT	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1426C>T	3.37:g.12627290G>A	ENSP00000251849:p.Leu476Phe	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	61	15	0.245902	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160558	0.78226	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.26	5.26	0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93106	0.7805	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	0.985;0.985;1.0	D;D;D	0.87578	0.983;0.946;0.998	D	0.93639	0.6963	10	0.87932	D	0	.	19.0661	0.93110	0.0:0.0:1.0:0.0	.	395;261;476	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	F	476;496;355;261;395	ENSP00000251849:L476F;ENSP00000401888:L496F;ENSP00000398591:L355F;ENSP00000441186:L261F;ENSP00000443567:L395F	ENSP00000251849:L476F	L	-	1	0	RAF1	12602290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.135000	0.71696	2.746000	0.94184	0.655000	0.94253	CTC	.	.	none		0.388	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		A	12627290	G	A	12627290	3	1	16	1	0	0	0	0	1	0	0	0	13002	942	33	2	536	2	RAF1	3	12627290	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		12627290	185395140	54	4019										
RAF1	5894	hgsc.bcm.edu	37	chr3	12645694	12645694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	catgtggacattaggtgtggAtgtcgacctctgcctctggg	14	9	2	0	rs3730271		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:12645694A>G	ENST00000251849.4	-	7	1214	c.775T>C	c.(775-777)Tcc>Ccc	p.S259P	RAF1_ENST00000542177.1_Missense_Mutation_p.S178P|RAF1_ENST00000534997.1_Missense_Mutation_p.S44P|RAF1_ENST00000442415.2_Missense_Mutation_p.S259P	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation; increased ERK activation). {ECO:0000269|PubMed:17344846}.|S -> F (in NS5). {ECO:0000269|PubMed:17603483}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S259A(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTAGGTGTGGATGTCGACCTC	0.512			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.S259P		Atlas-SNP	.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	RAF1,caecum,carcinoma,0,3	RAF1	66	3	1	Substitution - Missense(1)	ovary(1)	c.T775C	GRCh37	CM086899	RAF1	M	rs3730271	PASS	.						155	138	144					3																	12645694		2203	4300	6503	SO:0001583	missense	5894	exon7	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GTGTGGATGTCGA	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.775T>C	3.37:g.12645694A>G	ENSP00000251849:p.Ser259Pro	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	165	37	0.224242	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111444	0.56398	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.77877	-1.1;-1.13;-1.06;-0.98;-1.08	5.73	5.73	0.89815	.	0.094049	0.85682	D	0.000000	D	0.88288	0.6396	M	0.81802	2.56	0.80722	D	1	P;D;B	0.76494	0.633;0.999;0.205	B;D;B	0.70487	0.349;0.969;0.111	D	0.89783	0.3962	10	0.87932	D	0	.	16.3123	0.82883	1.0:0.0:0.0:0.0	rs3730271;rs3730271	178;44;259	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	P	259;259;138;44;178	ENSP00000251849:S259P;ENSP00000401888:S259P;ENSP00000398591:S138P;ENSP00000441186:S44P;ENSP00000443567:S178P	ENSP00000251849:S259P	S	-	1	0	RAF1	12620694	1.000000	0.71417	0.984000	0.44739	0.289000	0.27227	9.282000	0.95840	2.308000	0.77769	0.533000	0.62120	TCC	A|1.000;|0.000	.	weak		0.512	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		G	12645694	A	G	12645694	3	3	16	1	0	0	0	0	1	0	0	0	13002	333	12	2	1215	2	RAF1	3	12645694	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	18404	12645694	185376736	55	4020										
NUP210	23225	hgsc.bcm.edu	37	chr3	13368892	13368892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acgctgactgtgcggacaacGcaggtgttgttggtggggcc	17	9	0	1	rs2271509	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:13368892G>A	ENST00000254508.5	-	32	4414	c.4332C>T	c.(4330-4332)tgC>tgT	p.C1444C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1444					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCGGACAACGCAGGTGTTGT	0.612													G|||	1985	0.396366	0.4592	0.3775	5008	,	,		19707	0.3016		0.4891	False		,,,				2504	0.3272				p.C1444C		Atlas-SNP	.											NUP210,NS,carcinoma,0,2	NUP210	182	2	0			c.C4332T						scavenged	.	G		2074,2332	564.7+/-381.5	474,1126,603	53	41	45		4332	1.7	0.1	3	dbSNP_100	45	4402,4198	577.9+/-390.6	1134,2134,1032	no	coding-synonymous	NUP210	NM_024923.2		1608,3260,1635	AA,AG,GG		48.814,47.0722,49.7924		1444/1888	13368892	6476,6530	2203	4300	6503	SO:0001819	synonymous_variant	23225	exon32			GACAACGCAGGTG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4332C>T	3.37:g.13368892G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	121	2	0.0165289	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			G|0.541;A|0.459	0.459	strong		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13368892	G	A	13368892	2	1	16	1	0	0	0	0	0	0	0	1	10760	1079	38	1		1	NUP210	3	13368892	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	723198	13368892	184653538	56	4021										
CHCHD4	131474	hgsc.bcm.edu	37	chr3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctggtctacacagtctgaccCcttgatctcctccgtgctat	7	15	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:14154566C>T	ENST00000396914.3	-	3	431	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	CHCHD4_ENST00000295767.5_Missense_Mutation_p.G97R	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)	p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537																																					p.G97R		Atlas-SNP	.											CHCHD4,NS,carcinoma,0,1	CHCHD4	8	1	2	Substitution - Missense(2)	lung(2)	c.G289A						scavenged	.						92	87	89					3																	14154566		2203	4300	6503	SO:0001583	missense	131474	exon4			CTGACCCCTTGAT	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.250G>A	3.37:g.14154566C>T	ENSP00000380122:p.Gly84Arg	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	128	2	0.015625	NM_144636	A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464116	0.96257	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	T;T	0.77489	-1.1;-1.1	5.61	5.61	0.85477	CHCH (1);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92913	0.6349	10	0.87932	D	0	-34.5809	19.6398	0.95753	0.0:1.0:0.0:0.0	.	84;97	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	R	97;84	ENSP00000295767:G97R;ENSP00000380122:G84R	ENSP00000295767:G97R	G	-	1	0	CHCHD4	14129567	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.646000	0.83445	2.641000	0.89580	0.591000	0.81541	GGG	.	.	none		0.537	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		T	14154566	C	T	14154566	3	4	16	1	0	0	0	0	1	0	0	0	3318	623	22	2	182	2	CHCHD4	3	14154566	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	785674	14154566	183867864	57	4022										
SLC6A6	6533	hgsc.bcm.edu	37	chr3	14523273	14523273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cattgggctgggctggagccTggccctttcctccatgctct	12	14	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:14523273T>C	ENST00000454876.2	+	14	1975	c.1646T>C	c.(1645-1647)cTg>cCg	p.L549P	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L549P			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	549					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGCTGGAGCCTGGCCCTTTCC	0.592																																					p.L549P		Atlas-SNP	.											.	SLC6A6	58	.	0			c.T1646C						PASS	.						136	119	125					3																	14523273		2203	4300	6503	SO:0001583	missense	6533	exon14			GGAGCCTGGCCCT		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1646T>C	3.37:g.14523273T>C	ENSP00000398063:p.Leu549Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	85	14	0.164706	NM_003043	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350042	0.82132	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.80123	-1.34;-1.34	4.5	4.5	0.54988	.	0.074225	0.51477	D	0.000099	D	0.91713	0.7380	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93800	0.7100	10	0.87932	D	0	.	14.1214	0.65189	0.0:0.0:0.0:1.0	.	549	P31641	SC6A6_HUMAN	P	549	ENSP00000398063:L549P;ENSP00000354107:L549P	ENSP00000354107:L549P	L	+	2	0	SLC6A6	14498277	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	7.988000	0.88194	1.789000	0.52484	0.377000	0.23210	CTG	.	.	none		0.592	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		C	14523273	T	C	14523273	3	2	16	1	0	0	0	0	1	0	0	0	14688	1580	55	3	1696	3	SLC6A6	3	14523273	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	368707	14523273	183499157	58	4023										
RFTN1	23180	hgsc.bcm.edu	37	chr3	16419279	16419279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttgctctccggtccatccaGtgtcttgctcaccccctgtg	9	16	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:16419279G>A	ENST00000334133.4	-	5	1044	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	RFTN1_ENST00000432519.1_Silent_p.L222L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	258					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGTCCATCCAGTGTCTTGCTC	0.587																																					p.L258L		Atlas-SNP	.											.	RFTN1	79	.	0			c.C772T						PASS	.						70	74	73					3																	16419279		2203	4300	6503	SO:0001819	synonymous_variant	23180	exon5			CATCCAGTGTCTT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.772C>T	3.37:g.16419279G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	82	28	0.341463	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	CCDS33712.1																																																																																			.	.	none		0.587	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		A	16419279	G	A	16419279	2	1	16	1	0	0	0	0	0	0	0	1	13258	1020	36	2		2	RFTN1	3	16419279	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1896006	16419279	181603151	59	4024										
THRB	7068	hgsc.bcm.edu	37	chr3	24231681	24231681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aagtggtctggatgagatgtGgcgacgactgttcatttttc	13	6	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:24231681G>A	ENST00000356447.4	-	4	451	c.167C>T	c.(166-168)cCa>cTa	p.P56L	THRB_ENST00000416420.1_Missense_Mutation_p.P56L|THRB_ENST00000396671.2_Missense_Mutation_p.P56L	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	56	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GATGAGATGTGGCGACGACTG	0.502																																					p.P56L	Melanoma(21;896 1043 15021 37958)	Atlas-SNP	.											.	THRB	52	.	0			c.C167T						PASS	.						247	234	239					3																	24231681		2203	4300	6503	SO:0001583	missense	7068	exon4			AGATGTGGCGACG		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.167C>T	3.37:g.24231681G>A	ENSP00000348827:p.Pro56Leu	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	246	48	0.195122	NM_000461	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433453	0.25813	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414;ENST00000428492;ENST00000418247	D;D;D;D	0.96427	-3.13;-3.13;-3.13;-4.01	5.81	4.0	0.46444	.	.	.	.	.	D	0.91372	0.7278	N	0.24115	0.695	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	D	0.84018	0.0352	9	0.59425	D	0.04	.	6.734	0.23399	0.0673:0.1301:0.667:0.1356	.	56	P10828	THB_HUMAN	L	56;56;56;25;56;56;56;56;56;56;56	ENSP00000379904:P56L;ENSP00000348827:P56L;ENSP00000414444:P56L;ENSP00000414100:P25L	ENSP00000348827:P56L	P	-	2	0	THRB	24206685	0.034000	0.19679	0.421000	0.26609	0.342000	0.28953	1.173000	0.31920	0.781000	0.33589	0.655000	0.94253	CCA	.	.	none		0.502	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		A	24231681	G	A	24231681	3	1	16	1	0	0	0	0	1	0	0	0	15872	1348	47	2	1246	2	THRB	3	24231681	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	7812402	24231681	173790749	60	4025										
RBMS3	27303	hgsc.bcm.edu	37	chr3	29938966	29938966	+	Splice_Site	SNP	G	G	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcccctgtctccacataccaGgtatgtccaatttacctgca					rs13060292		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:29938966G>T	ENST00000383767.2	+	9	1224	c.888G>T	c.(886-888)caG>caT	p.Q296H	RBMS3_ENST00000383766.2_Splice_Site_p.Q295H|RBMS3_ENST00000396583.3_Splice_Site_p.Q309H|RBMS3_ENST00000456853.1_Splice_Site_p.Q309H|RBMS3_ENST00000452462.1_Splice_Site_p.Q296H|RBMS3_ENST00000434693.2_Splice_Site_p.Q295H|RBMS3_ENST00000273139.9_Splice_Site_p.Q296H			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	296					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCACATACCAGGTATGTCCAA	0.403																																					p.Q309H		Atlas-SNP	.											.	RBMS3	62	.	0			c.G927T						PASS	.						204	184	191					3																	29938966		2203	4300	6503	SO:0001630	splice_region_variant	27303	exon10			ATACCAGGTATGT	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.888+1G>T	3.37:g.29938966G>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	175	39	0.222857	NM_001177712	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100850	0.94245	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.30182	1.54;1.59;1.56;1.58;1.67;1.57;1.59	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.85373	2.75	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.756;0.999	D;D;P;D	0.76071	0.987;0.981;0.644;0.971	T	0.66524	-0.5902	9	.	.	.	.	18.754	0.91825	0.0:0.0:1.0:0.0	.	296;309;295;296	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	H	295;309;296;296;295;296;309	ENSP00000395592:Q295H;ENSP00000379828:Q309H;ENSP00000373277:Q296H;ENSP00000273139:Q296H;ENSP00000373276:Q295H;ENSP00000397926:Q296H;ENSP00000400519:Q309H	.	Q	+	3	2	RBMS3	29913970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	CAG	.	.	alt		0.403	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	Missense_Mutation	T	29938966	G	T	29938966	5	4	16	1	0	0	0	0	0	0	1	0	13150	1014	35	4	965	4	RBMS3	3	29938966	Splice_Site	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5707285	29938966	168083464	61	4026	69	2								
RBMS3	27303	hgsc.bcm.edu	37	chr3	29938967	29938967	+	Splice_Site	SNP	G	G	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cccctgtctccacataccagGtatgtccaatttacctgcac							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:29938967G>T	ENST00000383767.2	+	9	1224		c.e9+1		RBMS3_ENST00000383766.2_Splice_Site|RBMS3_ENST00000396583.3_Splice_Site|RBMS3_ENST00000456853.1_Splice_Site|RBMS3_ENST00000452462.1_Splice_Site|RBMS3_ENST00000434693.2_Splice_Site|RBMS3_ENST00000273139.9_Splice_Site			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3						positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CACATACCAGGTATGTCCAAT	0.398																																					.		Atlas-SNP	.											.	RBMS3	62	.	0			c.927+1G>T						PASS	.						204	183	190					3																	29938967		2203	4300	6503	SO:0001630	splice_region_variant	27303	exon10			TACCAGGTATGTC	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.888+1G>T	3.37:g.29938967G>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	177	41	0.231638	NM_001177712	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Splice_Site	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872761	0.91587	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.754	0.91825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS3	29913971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	.	.	.	none		0.398	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	Intron	T	29938967	G	T	29938967	5	4	16	1	0	0	0	0	0	0	1	0	13150	1275	44	4	966	4	RBMS3	3	29938967	Splice_Site	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1	29938967	168083463	62	4027	69	2								
CMTM7	112616	hgsc.bcm.edu	37	chr3	32491043	32491043	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gagcggactggtagccggagCggtgaggatgttttggggag	21	5	0	1	rs375912380		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:32491043C>T	ENST00000334983.5	+	3	667	c.431C>T	c.(430-432)gCg>gTg	p.A144V	CMTM7_ENST00000349718.4_Intron	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	144	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						GTAGCCGGAGCGGTGAGGATG	0.493																																					p.A144V		Atlas-SNP	.											CMTM7,NS,carcinoma,-1,1	CMTM7	14	1	0			c.C431T						scavenged	.	C	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	87	88	88		431,	5.7	1	3		88	0,8600		0,0,4300	no	missense-near-splice,intron	CMTM7	NM_138410.2,NM_181472.1	64,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,	144/176,	32491043	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	112616	exon3			CCGGAGCGGTGAG	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"chemokine-like factor super family 7", "chemokine-like factor superfamily 7"	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.432+1C>T	3.37:g.32491043C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	191	4	0.0209424	NM_138410	Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891854	0.91889	4.54E-4	0.0	ENSG00000153551	ENST00000334983	T	0.22743	1.94	5.69	5.69	0.88448	Marvel (1);MARVEL-like domain (1);	0.214085	0.40554	N	0.001075	T	0.36468	0.0968	L	0.55834	1.745	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.04090	-1.0978	10	0.08599	T	0.76	-17.026	18.6607	0.91471	0.0:1.0:0.0:0.0	.	144	Q96FZ5	CKLF7_HUMAN	V	144	ENSP00000335605:A144V	ENSP00000335605:A144V	A	+	2	0	CMTM7	32466047	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	5.405000	0.66351	2.683000	0.91414	0.650000	0.86243	GCG	.	.	weak		0.493	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1		Missense_Mutation	T	32491043	C	T	32491043	5	4	16	1	0	0	0	0	0	0	1	0	3588	782	27	1	441	1	CMTM7	3	32491043	Splice_Site	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2552076	32491043	165531387	63	4028										
SCN11A	11280	hgsc.bcm.edu	37	chr3	38924723	38924723	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cacaagacaatgatgatttaCcagtgccccactgctcagca	7	13	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:38924723C>T	ENST00000302328.3	-	18	3418		c.e18+1		SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGATTTACCAGTGCCCCA	0.488																																					.		Atlas-SNP	.											.	SCN11A	296	.	0			c.3219+1G>A						PASS	.						93	83	87					3																	38924723		2203	4300	6503	SO:0001630	splice_region_variant	11280	exon19			GATTTACCAGTGC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3219+1G>A	3.37:g.38924723C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Splice_Site	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080272	0.94050	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.776	0.96393	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN11A	38899727	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.453000	0.80700	2.840000	0.97914	0.655000	0.94253	.	.	.	none		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Intron	T	38924723	C	T	38924723	5	4	16	1	0	0	0	0	0	0	1	0	13913	521	18	2	2191	2	SCN11A	3	38924723	Splice_Site	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6433680	38924723	159097707	64	4029										
DOCK3	1795	hgsc.bcm.edu	37	chr3	51394558	51394558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cagctgtcaatggaggcattGcacgctatcaggaggtaagc	13	9	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:51394558G>A	ENST00000266037.9	+	44	4692	c.4669G>A	c.(4669-4671)Gca>Aca	p.A1557T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1557	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGAGGCATTGCACGCTATCA	0.522																																					p.A1557T		Atlas-SNP	.											.	DOCK3	397	.	0			c.G4669A						PASS	.						100	94	96					3																	51394558		2067	4226	6293	SO:0001583	missense	1795	exon44			GGCATTGCACGCT	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4669G>A	3.37:g.51394558G>A	ENSP00000266037:p.Ala1557Thr	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	93	23	0.247312	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135619	0.56828	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.17370	2.28	5.84	5.84	0.93424	.	0.052235	0.85682	D	0.000000	T	0.16599	0.0399	L	0.38838	1.175	0.58432	D	0.999998	B	0.26672	0.156	B	0.29267	0.1	T	0.03130	-1.1069	10	0.34782	T	0.22	.	14.9171	0.70807	0.0:0.0:0.8569:0.1431	.	1557	Q8IZD9	DOCK3_HUMAN	T	1557;353	ENSP00000266037:A1557T	ENSP00000266037:A1557T	A	+	1	0	DOCK3	51369598	1.000000	0.71417	0.861000	0.33841	0.989000	0.77384	7.871000	0.87180	2.765000	0.95021	0.655000	0.94253	GCA	.	.	none		0.522	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51394558	G	A	51394558	3	1	16	1	0	0	0	0	1	0	0	0	4688	1319	46	2	4843	2	DOCK3	3	51394558	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	12469835	51394558	146627872	65	4030										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89390951	89390951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atctctaatataaacgagacCtcagttatcctggactggag	8	9	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:89390951C>T	ENST00000336596.2	+	5	1242	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	EPHA3_ENST00000494014.1_Silent_p.T339T|EPHA3_ENST00000452448.2_Silent_p.T339T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAACGAGACCTCAGTTATCC	0.403										TSP Lung(6;0.00050)																											p.T339T		Atlas-SNP	.											.	EPHA3	501	.	0			c.C1017T						PASS	.						76	79	78					3																	89390951		2203	4300	6503	SO:0001819	synonymous_variant	2042	exon5			CGAGACCTCAGTT	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1017C>T	3.37:g.89390951C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																			.	.	none		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89390951	C	T	89390951	2	4	16	1	0	0	0	0	0	0	0	1	5168	668	24	2		2	EPHA3	3	89390951	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	37996393	89390951	108631479	66	4031										
EPHA6	285220	hgsc.bcm.edu	37	chr3	97251298	97251298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaaaggtggccacatggatcGgcaaagaagagattttctaa	12	6	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:97251298G>A	ENST00000514100.1	+	8	715	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	EPHA6_ENST00000502694.1_Missense_Mutation_p.R158Q|EPHA6_ENST00000389672.5_Missense_Mutation_p.R766Q|EPHA6_ENST00000442602.2_Missense_Mutation_p.R132Q	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	672	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACATGGATCGGCAAAGAAGA	0.438																																					p.R766Q		Atlas-SNP	.											EPHA6,NS,carcinoma,+1,1	EPHA6	439	1	0			c.G2297A						scavenged	.						93	90	91					3																	97251298		1862	4119	5981	SO:0001583	missense	285220	exon11			TGGATCGGCAAAG	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.473G>A	3.37:g.97251298G>A	ENSP00000421711:p.Arg158Gln	Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	122	27	0.221311	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999696	0.74818	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81889	0.4918	N	0.20304	0.555	0.51767	D	0.999937	P;B;D;P	0.62365	0.508;0.04;0.991;0.568	B;B;P;B	0.52109	0.073;0.019;0.69;0.039	D	0.83686	0.0174	9	0.59425	D	0.04	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	132;671;158;158	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	Q	766;158;158;132	ENSP00000374323:R766Q;ENSP00000421711:R158Q;ENSP00000423950:R158Q;ENSP00000403100:R132Q	ENSP00000374323:R766Q	R	+	2	0	EPHA6	98733988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.613000	0.54152	2.767000	0.95098	0.563000	0.77884	CGG	.	.	none		0.438	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		A	97251298	G	A	97251298	3	1	16	1	0	0	0	0	1	0	0	0	5171	1116	39	1	2407	1	EPHA6	3	97251298	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	7860347	97251298	100771132	67	4032										
OR5H6	79295	hgsc.bcm.edu	37	chr3	97983269	97983269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ataccgctcttcctggcattCttggtaatatatctcatcac	5	12	4	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:97983269C>A	ENST00000383696.2	+	1	182	c.141C>A	c.(139-141)ttC>ttA	p.F47L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCCTGGCATTCTTGGTAATAT	0.413																																					p.F47L		Atlas-SNP	.											OR5H6,bladder,carcinoma,0,1	OR5H6	89	1	0			c.C141A						PASS	.						207	217	213					3																	97983269		2203	4299	6502	SO:0001583	missense	79295	exon1			GGCATTCTTGGTA	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.141C>A	3.37:g.97983269C>A	ENSP00000373196:p.Phe47Leu	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	296	74	0.25	NM_001005479	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	13.32	2.202696	0.38905	.	.	ENSG00000230301	ENST00000383696	T	0.04454	3.62	2.19	0.231	0.15377	.	0.000000	0.44902	D	0.000416	T	0.13756	0.0333	M	0.66297	2.02	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02533	-1.1145	10	0.72032	D	0.01	.	6.0007	0.19519	0.0:0.6814:0.0:0.3186	.	47	Q8NGV6	OR5H6_HUMAN	L	47	ENSP00000373196:F47L	ENSP00000373196:F47L	F	+	3	2	OR5H6	99465959	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.601000	0.05687	0.251000	0.21505	0.194000	0.17425	TTC	.	.	none		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			A	97983269	C	A	97983269	3	1	16	1	0	0	0	0	1	0	0	0	11163	912	32	4	143	4	OR5H6	3	97983269	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	731971	97983269	100039161	68	4033										
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733600	126733600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gctccgtgcgtgcccatgacGccctggtggaggtgtgtgtg	17	11	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:126733600G>A	ENST00000393409.2	+	13	2803	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A912T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	935	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCCCATGACGCCCTGGTGGA	0.697																																					p.A935T		Atlas-SNP	.											.	PLXNA1	185	.	0			c.G2803A						PASS	.						62	46	52					3																	126733600		2202	4299	6501	SO:0001583	missense	5361	exon13			CATGACGCCCTGG	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2803G>A	3.37:g.126733600G>A	ENSP00000377061:p.Ala935Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	67	13	0.19403	NM_032242		Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402308	0.83230	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.77098	-1.07;-1.07	4.21	4.21	0.49690	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.84088	0.5395	L	0.55743	1.74	0.58432	D	0.999999	D	0.60575	0.988	D	0.63488	0.915	D	0.84986	0.0891	10	0.48119	T	0.1	.	16.7531	0.85492	0.0:0.0:1.0:0.0	.	935	Q9UIW2	PLXA1_HUMAN	T	935;912	ENSP00000377061:A935T;ENSP00000251772:A912T	ENSP00000251772:A912T	A	+	1	0	PLXNA1	128216290	1.000000	0.71417	0.927000	0.36925	0.341000	0.28922	7.032000	0.76498	2.184000	0.69523	0.484000	0.47621	GCC	.	.	none		0.697	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		A	126733600	G	A	126733600	3	1	16	1	0	0	0	0	1	0	0	0	12119	1087	38	1	2853	1	PLXNA1	3	126733600	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	28750331	126733600	71288830	69	4034										
CCRL1	51554	hgsc.bcm.edu	37	chr3	132319326	132319326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgactacagtcaatatgaaCtgatctgtatcaaagaagat	7	6	3	5			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																					p.L29L		Atlas-SNP	.											CCRL1,NS,carcinoma,0,2	CCRL1	30	2	1	Substitution - coding silent(1)	endometrium(1)	c.C85T						scavenged	.						58	58	58					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554	exon1			TATGAACTGATCT	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T		Somatic	408	3	0.00735294		WXS	Illumina HiSeq	Phase_I	538	10	0.0185874	NM_178445	B2R9U7	Silent	SNP	ENST00000249887.2	37	CCDS3075.1																																																																																			.	.	none		0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		T	132319326	C	T	132319326	2	4	16	1	0	0	0	0	0	0	0	1	2949	564	20	2		2	CCRL1	3	132319326	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5585726	132319326	65703104	70	4035										
SGEF	26084	hgsc.bcm.edu	37	chr3	153842198	153842199	+	Splice_Site	INS	-	-	A													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tacttttttttgtctcttagINSaaaaaaatgctgaaaggaca							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:153842198_153842199insA	ENST00000356448.4	+	3	1367_1368		c.e3-1		ARHGEF26_ENST00000465817.1_Splice_Site|ARHGEF26_ENST00000465093.1_Splice_Site	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26						endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ttGTCTCTTAGAAAAAAATGCT	0.267																																					.	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-Indel	.											.	ARHGEF26	158	.	0			c.1084-1->A						PASS	.																																			SO:0001630	splice_region_variant	26084	exon3			.	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1084-1->A	3.37:g.153842205_153842205dupA		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	31	10	0.322581	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Splice_Site	INS	ENST00000356448.4	37	CCDS46938.1																																																																																			.	.	none		0.267	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	Intron	A	153842199	-	A	153842198	8	5	16	1	0	1	1	0	0	0	1	0	14205	956	33	0	1089	0	SGEF	3	153842198	Splice_Site	INS	-	TCGA-FF-8062-01A-11D-2210-10	21522872	153842198	44180232	71	4036										
MME	4311	hgsc.bcm.edu	37	chr3	154858001	154858001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctacggctaaacctgaagatCgaaatgatccaatgcttctg	8	10	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:154858001C>T	ENST00000460393.1	+	10	997	c.877C>T	c.(877-879)Cga>Tga	p.R293*	MME_ENST00000493237.1_Nonsense_Mutation_p.R293*|MME_ENST00000360490.2_Nonsense_Mutation_p.R293*|MME_ENST00000492661.1_Nonsense_Mutation_p.R293*|MME_ENST00000462745.1_Nonsense_Mutation_p.R293*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	293					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACCTGAAGATCGAAATGATCC	0.303																																					p.R293X		Atlas-SNP	.											MME,colon,carcinoma,-1,2	MME	133	2	0			c.C877T						scavenged	.						75	69	71					3																	154858001		2203	4300	6503	SO:0001587	stop_gained	4311	exon10			GAAGATCGAAATG		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.877C>T	3.37:g.154858001C>T	ENSP00000418525:p.Arg293*	Somatic	116	2	0.0172414		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Nonsense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397259	0.96009	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	.	.	.	5.23	2.07	0.26955	.	0.140473	0.45867	D	0.000338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4936	13.5191	0.61557	0.6899:0.3101:0.0:0.0	.	.	.	.	X	293	.	ENSP00000353679:R293X	R	+	1	2	MME	156340695	0.996000	0.38824	0.998000	0.56505	0.704000	0.40688	1.308000	0.33528	0.609000	0.30018	0.655000	0.94253	CGA	.	.	none		0.303	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		T	154858001	C	T	154858001	4	4	16	1	0	0	0	0	0	1	0	0	9645	876	31	1	911	1	MME	3	154858001	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1015803	154858001	43164429	72	4037										
SI	6476	hgsc.bcm.edu	37	chr3	164704969	164704969	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aacagagaaccctgtgccatCtgattatcatctgcagcaac	7	12	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:164704969C>T	ENST00000264382.3	-	45	5216	c.5154G>A	c.(5152-5154)caG>caA	p.Q1718Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1718	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTGTGCCATCTGATTATCAT	0.343										HNSCC(35;0.089)																											p.Q1718Q		Atlas-SNP	.											SI,NS,carcinoma,0,1	SI	500	1	0			c.G5154A						scavenged	.						162	160	160					3																	164704969		2203	4300	6503	SO:0001819	synonymous_variant	6476	exon45			TGCCATCTGATTA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5154G>A	3.37:g.164704969C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	248	4	0.016129	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																			.	.	none		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164704969	C	T	164704969	2	4	16	1	0	0	0	0	0	0	0	1	14297	912	32	2		2	SI	3	164704969	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	9846968	164704969	33317461	73	4038										
PIK3CA	5290	hgsc.bcm.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	8	9	1	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:178916936G>T	ENST00000263967.3	+	2	480	c.323G>T	c.(322-324)cGt>cTt	p.R108L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R108L	Colon(199;1504 1750 3362 26421 31210 32040)	Atlas-SNP	.		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,colon,carcinoma,0,39	PIK3CA	8460	39	19	Substitution - Missense(14)|Deletion - In frame(5)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	c.G323T						scavenged	.						87	82	84					3																	178916936		1822	4071	5893	SO:0001583	missense	5290	exon2			GCAACCGTGAAGA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>T	3.37:g.178916936G>T	ENSP00000263967:p.Arg108Leu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	59	3	0.0508475	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594124	0.86953	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74002	0.83;-0.8	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.64404	1.975	0.80722	D	1	D	0.56035	0.974	P	0.54460	0.753	T	0.80502	-0.1354	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	L	108	ENSP00000263967:R108L;ENSP00000417479:R108L	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT	.	.	none		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178916936	G	T	178916936	3	4	16	1	0	0	0	0	1	0	0	0	11913	1145	40	4	325	4	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	14211967	178916936	19105494	74	4039										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183209942	183209942	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gataccgcagctggcccgctCgtggctgagctgggtcacca	14	14	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr3:183209942C>G	ENST00000341319.3	-	7	1674	c.1639G>C	c.(1639-1641)Gag>Cag	p.E547Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	547					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGGCCCGCTCGTGGCTGAGC	0.657																																					p.E547Q		Atlas-SNP	.											.	KLHL6	100	.	0			c.G1639C						PASS	.						39	39	39					3																	183209942		2202	4299	6501	SO:0001583	missense	89857	exon7			CCCGCTCGTGGCT	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1639G>C	3.37:g.183209942C>G	ENSP00000341342:p.Glu547Gln	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	152	27	0.177632	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940006	0.73557	.	.	ENSG00000172578	ENST00000341319	T	0.66815	-0.23	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	L	0.33668	1.02	0.50467	D	0.999877	D	0.60575	0.988	D	0.66497	0.944	T	0.67245	-0.5719	10	0.22706	T	0.39	.	20.029	0.97531	0.0:1.0:0.0:0.0	.	547	Q8WZ60	KLHL6_HUMAN	Q	547	ENSP00000341342:E547Q	ENSP00000341342:E547Q	E	-	1	0	KLHL6	184692636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.907000	0.69908	2.742000	0.94016	0.591000	0.81541	GAG	.	.	none		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		G	183209942	C	G	183209942	3	3	16	1	0	0	0	0	1	0	0	0	8393	893	31	4	230	4	KLHL6	3	183209942	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	4293006	183209942	14812488	75	4040										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388697	1388697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cctgctcacacgtgcccatgCggagtgcccgcctgctcaca	10	18	2	0	rs113316888	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:1388697C>T	ENST00000324803.4	+	1	3358	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGCGGAGTGCCCG	0.701													N|||	623	0.124401	0.1399	0.1527	5008	,	,		12463	0.2083		0.0736	False		,,,				2504	0.0491				p.A133V		Atlas-SNP	.											CRIPAK,NS,carcinoma,0,1	CRIPAK	185	1	0			c.C398T						scavenged	.						57	58	58					4																	1388697		2192	4288	6480	SO:0001583	missense	285464	exon1			CCCATGCGGAGTG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.398C>T	4.37:g.1388697C>T	ENSP00000323978:p.Ala133Val	Somatic	59	8	0.135593		WXS	Illumina HiSeq	Phase_I	32	10	0.3125	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	11.32	1.604146	0.28534	.	.	ENSG00000179979	ENST00000324803	T	0.18810	2.19	0.948	-1.08	0.09936	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.02654	T	1	.	2.1758	0.03862	0.2485:0.1979:0.0:0.5536	.	133	Q8N1N5	CRPAK_HUMAN	V	133	ENSP00000323978:A133V	ENSP00000323978:A133V	A	+	2	0	CRIPAK	1378697	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-2.200000	0.01237	-1.804000	0.01241	-1.950000	0.00486	GCG	C|0.500;T|0.500	0.500	weak		0.701	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388697	C	T	1388697	3	4	16	1	0	0	0	0	1	0	0	0	3877	768	27	1	400	1	CRIPAK	4	1388697	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10		1388697	189765579	76	4041										
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818940	77818940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctcagcaaggcagcgttggtCacgcggcccccagcctggca	13	16	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:77818940C>T	ENST00000334306.2	-	1	62	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	21																	CAGCGTTGGTCACGCGGCCCC	0.657																																					p.V21V		Atlas-SNP	.											.	.	.	.	0			c.G63A						PASS	.						24	26	25					4																	77818940		2201	4300	6501	SO:0001819	synonymous_variant	345079	exon1			GTTGGTCACGCGG		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.63G>A	4.37:g.77818940C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	41	10	0.243902	NM_001029870	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			.	.	none		0.657	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		T	77818940	C	T	77818940	2	4	16	1	0	0	0	0	0	0	0	1	682	813	29	2		2	ANKRD56	4	77818940	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	76430243	77818940	113335336	77	4042										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79188493	79188493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttgtgcggtaccaggacgaAatgtggaagggctcggcctg	17	8	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:79188493A>G	ENST00000325942.6	+	9	1328	c.888A>G	c.(886-888)gaA>gaG	p.E296E	FRAS1_ENST00000264899.6_Silent_p.E296E|FRAS1_ENST00000264895.6_Silent_p.E296E	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	296	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						ACCAGGACGAAATGTGGAAGG	0.577																																					p.E296E		Atlas-SNP	.											FRAS1_ENST00000325942,pharynx,carcinoma,+2,2	FRAS1	779	2	0			c.A888G						scavenged	.						85	90	89					4																	79188493		2158	4244	6402	SO:0001819	synonymous_variant	80144	exon9			GGACGAAATGTGG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.888A>G	4.37:g.79188493A>G		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	320	4	0.0125	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.822|0.822	-0.748330|-0.748330	0.03065|0.03065	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.19|5.19	-1.92|-1.92	0.07618|0.07618	.|.	.|.	.|.	.|.	.|.	T|T	0.37945|0.37945	0.1022|0.1022	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31586|0.31586	-0.9938|-0.9938	4|4	.|.	.|.	.|.	.|.	0.2694|0.2694	0.00229|0.00229	0.231:0.2821:0.2116:0.2753|0.231:0.2821:0.2116:0.2753	.|.	.|.	.|.	.|.	R|D	225|139	.|.	.|.	K|N	+|+	2|1	0|0	FRAS1|FRAS1	79407517|79407517	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.045000|0.045000	0.14185|0.14185	0.725000|0.725000	0.25970|0.25970	-0.213000|-0.213000	0.10094|0.10094	-0.290000|-0.290000	0.09829|0.09829	AAA|AAT	.	.	none		0.577	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79188493	A	G	79188493	2	3	16	1	0	0	0	0	0	0	0	1	6042	11	1	2		2	FRAS1	4	79188493	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	1369553	79188493	111965783	78	4043										
MAPK10	5602	hgsc.bcm.edu	37	chr4	87022299	87022299	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgaagcttgtgcctgctgtCctggccagtccaaagtccag	11	12	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:87022299C>T	ENST00000359221.3	-	8	1162	c.636G>A	c.(634-636)agG>agA	p.R212R	MAPK10_ENST00000395169.3_Silent_p.R174R|MAPK10_ENST00000395161.2_Silent_p.R212R|MAPK10_ENST00000395157.3_Silent_p.R67R|MAPK10_ENST00000395166.1_Silent_p.R174R|MAPK10_ENST00000361569.2_Silent_p.R212R|MAPK10_ENST00000449047.2_Silent_p.R67R|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395160.3_Silent_p.R67R			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.R212S(1)|p.R67S(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGCCTGCTGTCCTGGCCAGTC	0.448																																					p.R212R		Atlas-SNP	.											MAPK10_ENST00000449047,NS,carcinoma,0,1	MAPK10	106	1	2	Substitution - Missense(2)	lung(2)	c.G636A						PASS	.						119	100	107					4																	87022299		2203	4300	6503	SO:0001819	synonymous_variant	5602	exon8			TGCTGTCCTGGCC	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.636G>A	4.37:g.87022299C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	174	45	0.258621	NM_002753	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409014	0.25378	.	.	ENSG00000109339	ENST00000515400	.	.	.	5.84	3.2	0.36748	.	.	.	.	.	T	0.59487	0.2197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55153	-0.8185	4	.	.	.	-18.4515	9.8477	0.41037	0.0:0.7294:0.0:0.2706	.	.	.	.	N	125	.	.	D	-	1	0	MAPK10	87241323	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.528000	0.23002	0.822000	0.34565	0.557000	0.71058	GAC	.	.	none		0.448	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			T	87022299	C	T	87022299	2	4	16	1	0	0	0	0	0	0	0	1	9272	854	30	2		2	MAPK10	4	87022299	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7833806	87022299	104131977	79	4044										
TACR3	6870	hgsc.bcm.edu	37	chr4	104511045	104511045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggtcacggtgtacatactgcTttgccggtttggatgaaacc	12	9	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:104511045T>C	ENST00000304883.2	-	5	1332	c.1192A>G	c.(1192-1194)Agc>Ggc	p.S398G	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	398					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TACATACTGCTTTGCCGGTTT	0.507																																					p.S398G		Atlas-SNP	.											.	TACR3	102	.	0			c.A1192G						PASS	.						207	193	198					4																	104511045		2203	4300	6503	SO:0001583	missense	6870	exon5			TACTGCTTTGCCG	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1192A>G	4.37:g.104511045T>C	ENSP00000303325:p.Ser398Gly	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	252	58	0.230159	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701190	0.48307	.	.	ENSG00000169836	ENST00000304883	T	0.66460	-0.21	5.81	4.64	0.57946	.	0.043074	0.85682	N	0.000000	T	0.57110	0.2031	L	0.45422	1.42	0.47476	D	0.999437	B	0.11235	0.004	B	0.10450	0.005	T	0.51068	-0.8752	10	0.33141	T	0.24	.	11.0731	0.48014	0.0:0.072:0.0:0.928	.	398	P29371	NK3R_HUMAN	G	398	ENSP00000303325:S398G	ENSP00000303325:S398G	S	-	1	0	TACR3	104730494	1.000000	0.71417	0.974000	0.42286	0.982000	0.71751	5.850000	0.69473	1.034000	0.39945	0.482000	0.46254	AGC	.	.	none		0.507	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		C	104511045	T	C	104511045	3	2	16	1	0	0	0	0	1	0	0	0	15504	1609	56	3	209	3	TACR3	4	104511045	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	17488746	104511045	86643231	80	4045										
TET2	54790	hgsc.bcm.edu	37	chr4	106158250	106158259	+	Frame_Shift_Del	DEL	CAGAAGCAAG	CAGAAGCAAG	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggctcttactctcaaatcaCagaagcaagtaaaagttgaa							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	CAGAAGCAAG	CAGAAGCAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:106158250_106158259delCAGAAGCAAG	ENST00000540549.1	+	3	4011_4020	c.3151_3160delCAGAAGCAAG	c.(3151-3162)cagaagcaagtafs	p.QKQV1051fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.QKQV1051fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.QKQV1051fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.QKQV1051fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.QKQV1051fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.QKQV1072fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.QKQV1051fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1051					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q1053*(2)|p.Q1051*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTCAAATCACAGAAGCAAGTAAAAGTTGA	0.443			"Mis N, F"		MDS																																p.1050_1053del		Pindel,Atlas-Indel	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	c.3150_3159del						PASS	.																																			SO:0001589	frameshift_variant	54790	exon3			.	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3151_3160delCAGAAGCAAG	4.37:g.106158250_106158259delCAGAAGCAAG	ENSP00000442788:p.Gln1051fs	Somatic	86	.	.		WXS	Illumina HiSeq	Phase_I	133	23	0.173	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	CCDS47120.1																																																																																			.	.	none		0.443	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		-	106158259	CAGAAGCAAG	-	106158250	7	5	16	1	0	1	0	1	0	0	0	0	15767	479	17	0	3153	0	TET2	4	106158250	Frame_Shift_Del	DEL	CAGAAGCAAG	TCGA-FF-8062-01A-11D-2210-10	1647205	106158250	84996026	81	4046										
TET2	54790	hgsc.bcm.edu	37	chr4	106182925	106182925	+	Frame_Shift_Del	DEL	C	C	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	actttatacaggaagagaaaCtggagtctcatttgcaaaac							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:106182925delC	ENST00000540549.1	+	8	4824	c.3964delC	c.(3964-3966)ctgfs	p.L1322fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.L1322fs|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Del_p.L1343fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1322					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAAGAGAAACTGGAGTCTCA	0.313			"Mis N, F"		MDS																																p.K1321fs		Pindel,Atlas-Indel	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	0			c.3963delA						PASS	.						87	74	78					4																	106182925		692	1588	2280	SO:0001589	frameshift_variant	54790	exon8			.	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3964delC	4.37:g.106182925delC	ENSP00000442788:p.Leu1322fs	Somatic	229	.	.		WXS	Illumina HiSeq	Phase_I	251	39	0.155	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	CCDS47120.1																																																																																			.	.	none		0.313	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		-	106182925	C	-	106182925	7	5	16	1	0	1	0	1	0	0	0	0	15767	564	20	0	4075	0	TET2	4	106182925	Frame_Shift_Del	DEL	C	TCGA-FF-8062-01A-11D-2210-10	24675	106182925	84971351	82	4047										
PAPSS1	9061	hgsc.bcm.edu	37	chr4	108578129	108578129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cattcaatggggttgcccaaCcttctgccaaaacctgcacc	7	15	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:108578129C>T	ENST00000265174.4	-	7	1090	c.818G>A	c.(817-819)gGt>gAt	p.G273D	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	273					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GGTTGCCCAACCTTCTGCCAA	0.388																																					p.G273D		Atlas-SNP	.											PAPSS1,NS,carcinoma,0,1	PAPSS1	57	1	0			c.G818A						scavenged	.						116	111	113					4																	108578129		2203	4300	6503	SO:0001583	missense	9061	exon7			GCCCAACCTTCTG	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.818G>A	4.37:g.108578129C>T	ENSP00000265174:p.Gly273Asp	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	264	3	0.0113636	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210836	0.95069	.	.	ENSG00000138801	ENST00000265174	T	0.79141	-1.24	6.16	6.16	0.99307	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93392	0.6752	10	0.87932	D	0	-20.1705	20.8598	0.99761	0.0:1.0:0.0:0.0	.	273	O43252	PAPS1_HUMAN	D	273	ENSP00000265174:G273D	ENSP00000265174:G273D	G	-	2	0	PAPSS1	108797578	1.000000	0.71417	0.980000	0.43619	0.926000	0.56050	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GGT	.	.	none		0.388	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			T	108578129	C	T	108578129	3	4	16	1	0	0	0	0	1	0	0	0	11434	507	18	2	1080	2	PAPSS1	4	108578129	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2395204	108578129	82576147	83	4048										
ANK2	287	hgsc.bcm.edu	37	chr4	114294465	114294465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctaggaaaatcattaggcggTatgtatcctctgaaggcaca	10	8	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:114294465T>G	ENST00000357077.4	+	45	11772	c.11719T>G	c.(11719-11721)Tat>Gat	p.Y3907D	ANK2_ENST00000510275.2_Missense_Mutation_p.Y505D|ANK2_ENST00000506722.1_Missense_Mutation_p.Y1813D|ANK2_ENST00000264366.6_Missense_Mutation_p.Y3874D|ANK2_ENST00000509550.1_Missense_Mutation_p.Y998D|ANK2_ENST00000394537.3_Missense_Mutation_p.Y1822D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3907					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATTAGGCGGTATGTATCCTC	0.383																																					p.Y3907D		Atlas-SNP	.											.	ANK2	576	.	0			c.T11719G						PASS	.						84	84	84					4																	114294465		2203	4300	6503	SO:0001583	missense	287	exon45			AGGCGGTATGTAT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11719T>G	4.37:g.114294465T>G	ENSP00000349588:p.Tyr3907Asp	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	148	25	0.168919	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.542868|4.542868	0.86022|0.86022	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96491	.|-0.33;-0.31;-0.37;-0.38;-1.08;-2.04;-4.03	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.135690	.|0.33553	.|N	.|0.004794	D|D	0.97626|0.97626	0.9222|0.9222	M|M	0.70595|0.70595	2.14|2.14	0.46317|0.46317	D|D	0.998987|0.998987	.|D;D;D;P;D;D	.|0.71674	.|0.963;0.996;0.979;0.892;0.998;0.984	.|P;D;P;P;D;D	.|0.64506	.|0.642;0.919;0.642;0.643;0.917;0.926	D|D	0.97950|0.97950	1.0331|1.0331	5|10	.|0.56958	.|D	.|0.05	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|998;888;854;1822;3907;1813	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	G|D	854|1813;888;1822;3907;3874;1813;998;505;917	.|ENSP00000421067:Y1813D;ENSP00000378044:Y1822D;ENSP00000349588:Y3907D;ENSP00000264366:Y3874D;ENSP00000426944:Y998D;ENSP00000421023:Y505D;ENSP00000422498:Y917D	.|ENSP00000264366:Y3874D	V|Y	+|+	2|1	0|0	ANK2|ANK2	114513914|114513914	0.979000|0.979000	0.34478|0.34478	0.749000|0.749000	0.31150|0.31150	0.846000|0.846000	0.48090|0.48090	4.663000|4.663000	0.61532|0.61532	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	GTA|TAT	.	.	none		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114294465	T	G	114294465	3	3	16	1	0	0	0	0	1	0	0	0	621	1638	57	5	11962	5	ANK2	4	114294465	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	5716336	114294465	76859811	84	4049										
PDE5A	8654	hgsc.bcm.edu	37	chr4	120460116	120460116	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aaagaaagaggataattaccGctaacgactgtagctctctt	8	8	1	2	rs142017762		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:120460116G>A	ENST00000354960.3	-	11	1950	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	PDE5A_ENST00000394439.1_Splice_Site_p.A492V|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Splice_Site_p.A502V|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	544					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GATAATTACCGCTAACGACTG	0.343																																					p.A544V		Atlas-SNP	.											.	PDE5A	83	.	0			c.C1631T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	137	152	147		1631,1505,1475	4.9	1	4	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	PDE5A	NM_001083.3,NM_033430.2,NM_033437.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	544/876,502/834,492/824	120460116	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8654	exon11			ATTACCGCTAACG	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1632+1C>T	4.37:g.120460116G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	127	16	0.125984	NM_001083	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832877	0.50951	0.0	1.16E-4	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.62941	-0.01;0.04;0.04	5.8	4.94	0.65067	.	0.317482	0.32655	N	0.005809	T	0.46483	0.1395	N	0.16478	0.41	0.47737	D	0.999504	B;B	0.13145	0.007;0.002	B;B	0.04013	0.0;0.001	T	0.30794	-0.9966	10	0.23302	T	0.38	.	15.7381	0.77863	0.0:0.0:0.8623:0.1377	.	544;502	O76074;O76074-2	PDE5A_HUMAN;.	V	544;492;502	ENSP00000347046:A544V;ENSP00000377957:A492V;ENSP00000264805:A502V	ENSP00000264805:A502V	A	-	2	0	PDE5A	120679564	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	4.056000	0.57448	1.411000	0.46957	0.650000	0.86243	GCG	G|1.000;A|0.000	0.000	weak		0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	Missense_Mutation	A	120460116	G	A	120460116	5	1	16	1	0	0	0	0	0	0	1	0	11644	1101	38	1	1040	1	PDE5A	4	120460116	Splice_Site	SNP	G	TCGA-FF-8062-01A-11D-2210-10	6165651	120460116	70694160	85	4050										
PLK4	10733	hgsc.bcm.edu	37	chr4	128807324	128807324	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tggaccatccttttatgtccCgaaattcttcaacaaaaagt	5	10	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:128807324C>T	ENST00000270861.5	+	5	1073	c.799C>T	c.(799-801)Cga>Tga	p.R267*	PLK4_ENST00000514379.1_Nonsense_Mutation_p.R226*|PLK4_ENST00000507249.1_Nonsense_Mutation_p.R267*|PLK4_ENST00000515069.1_Nonsense_Mutation_p.R267*|PLK4_ENST00000513090.1_Nonsense_Mutation_p.R235*	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	267					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R267R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTTATGTCCCGAAATTCTTC	0.393																																					p.R267X	Colon(135;508 1718 19061 31832 42879)	Atlas-SNP	.											PLK4,NS,carcinoma,-1,1	PLK4	65	1	1	Substitution - coding silent(1)	lung(1)	c.C799T						scavenged	.						104	108	107					4																	128807324		2203	4300	6503	SO:0001587	stop_gained	10733	exon5			ATGTCCCGAAATT	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.799C>T	4.37:g.128807324C>T	ENSP00000270861:p.Arg267*	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_014264	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Nonsense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	37	6.232566	0.97399	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	5.88	3.01	0.34805	.	0.719377	0.14186	N	0.335687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3305	3.3227	0.07056	0.353:0.3563:0.2125:0.0782	.	.	.	.	X	267;267;235;267;226	.	ENSP00000270861:R267X	R	+	1	2	PLK4	129026774	0.970000	0.33590	0.826000	0.32828	0.991000	0.79684	1.517000	0.35867	0.768000	0.33290	0.655000	0.94253	CGA	.	.	none		0.393	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			T	128807324	C	T	128807324	4	4	16	1	0	0	0	0	0	1	0	0	12098	644	23	1	817	1	PLK4	4	128807324	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	8347208	128807324	62346952	86	4051										
TMEM184C	55751	hgsc.bcm.edu	37	chr4	148539118	148539118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgcgaaaacatgccttgcaCttgtacctggaggaactgga	12	9	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:148539118C>T	ENST00000296582.3	+	1	585	c.11C>T	c.(10-12)aCt>aTt	p.T4I	TMEM184C_ENST00000508208.1_Missense_Mutation_p.T4I|RP11-425A23.1_ENST00000508072.1_RNA	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	4						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATGCCTTGCACTTGTACCTGG	0.478											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T4I		Atlas-SNP	.											.	TMEM184C	25	.	0			c.C11T						PASS	.						264	246	252					4																	148539118		2203	4300	6503	SO:0001583	missense	55751	exon1			CTTGCACTTGTAC	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.11C>T	4.37:g.148539118C>T	ENSP00000296582:p.Thr4Ile	Somatic	205	0	0	1718	WXS	Illumina HiSeq	Phase_I	220	51	0.231818	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374141	0.82573	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	.	.	.	5.45	5.45	0.79879	.	0.138744	0.48767	D	0.000162	T	0.57621	0.2066	L	0.43152	1.355	0.51233	D	0.999917	B	0.31680	0.335	B	0.28139	0.086	T	0.58951	-0.7545	9	0.56958	D	0.05	-10.0523	19.6609	0.95871	0.0:1.0:0.0:0.0	.	4	Q9NVA4	T184C_HUMAN	I	4	.	ENSP00000296582:T4I	T	+	2	0	TMEM184C	148758568	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.185000	0.77714	2.720000	0.93068	0.557000	0.71058	ACT	.	.	none		0.478	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		T	148539118	C	T	148539118	3	4	16	1	0	0	0	0	1	0	0	0	16103	565	20	2	13	2	TMEM184C	4	148539118	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	19731794	148539118	42615158	87	4052										
ADAM29	11086	hgsc.bcm.edu	37	chr4	175897508	175897508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agtggaagtcggagaacattAcgccccggatgcaacatgac	12	10	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr4:175897508A>G	ENST00000359240.3	+	5	1502	c.832A>G	c.(832-834)Acg>Gcg	p.T278A	ADAM29_ENST00000404450.4_Missense_Mutation_p.T278A|ADAM29_ENST00000445694.1_Missense_Mutation_p.T278A|ADAM29_ENST00000514159.1_Missense_Mutation_p.T278A|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	278	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGAGAACATTACGCCCCGGAT	0.428																																					p.T278A	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											ADAM29,rectum,carcinoma,-1,1	ADAM29	262	1	0			c.A832G						scavenged	.						145	139	141					4																	175897508		2203	4300	6503	SO:0001583	missense	11086	exon4			AACATTACGCCCC	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.832A>G	4.37:g.175897508A>G	ENSP00000352177:p.Thr278Ala	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	179	6	0.0335196	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	3.239	-0.155766	0.06544	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	4.13	-8.26	0.01021	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	6.208930	0.00695	N	0.000753	T	0.05868	0.0153	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.29119	-1.0022	9	.	.	.	.	0.1078	0.00054	0.3261:0.2277:0.1843:0.2619	.	278	Q9UKF5	ADA29_HUMAN	A	278	ENSP00000352177:T278A;ENSP00000414544:T278A;ENSP00000384229:T278A;ENSP00000423517:T278A	.	T	+	1	0	ADAM29	176134083	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.288000	0.00525	-4.603000	0.00040	-1.960000	0.00479	ACG	.	.	none		0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				G	175897508	A	G	175897508	3	3	16	1	0	0	0	0	1	0	0	0	247	391	14	2	834	2	ADAM29	4	175897508	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	27358390	175897508	15256768	88	4053										
SDHA	6389	hgsc.bcm.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	7	10	2	3	rs3211483		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas																												p.V644M		Atlas-SNP	.											SDHA,NS,adenocarcinoma,0,2	SDHA	80	2	0			c.G1930A						scavenged	.						91	104	99					5																	256470		2203	4300	6503	SO:0001583	missense	6389	exon15	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	AGACCCGTGATCG	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1930G>A	5.37:g.256470G>A	ENSP00000264932:p.Val644Met	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	15.71|15.71	2.915077|2.915077	0.52546|0.52546	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|D;D;D	.|0.84730	.|-1.89;-1.89;-1.89	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.94056|0.94056	0.8095|0.8095	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.993;0.997	D|D	0.95511|0.95511	0.8586|0.8586	5|10	.|0.87932	.|D	.|0	.|.	13.8591|13.8591	0.63548|0.63548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3211483;rs17415232|rs3211483;rs17415232	.|596;238;563;644	.|E9PBJ5;B3KYA5;D6RFM5;P31040	.|.;.;.;DHSA_HUMAN	H|M	126|644;499;563;596	.|ENSP00000264932:V644M;ENSP00000426514:V563M;ENSP00000427703:V596M	.|ENSP00000264932:V644M	R|V	+|+	2|1	0|0	SDHA|SDHA	309470|309470	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.242000|0.242000	0.25591|0.25591	8.735000|8.735000	0.91549|0.91549	1.861000|1.861000	0.53984|0.53984	0.305000|0.305000	0.20034|0.20034	CGT|GTG	G|1.000;|0.000	.	weak		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	256470	G	A	256470	3	1	16	1	0	0	0	0	1	0	0	0	13963	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		256470	180658790	89	4054										
FBXL7	23194	hgsc.bcm.edu	37	chr5	15928178	15928178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcacacacccgctcatccggCtcgcctccagaccccagaag	7	20	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:15928178C>A	ENST00000504595.1	+	3	788	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	FBXL7_ENST00000329673.7_Missense_Mutation_p.L91I|FBXL7_ENST00000510662.1_Missense_Mutation_p.L56I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	103					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTCATCCGGCTCGCCTCCAG	0.677																																					p.L103I		Atlas-SNP	.											FBXL7,NS,carcinoma,-2,1	FBXL7	138	1	0			c.C307A						PASS	.						19	25	23					5																	15928178		2032	4180	6212	SO:0001583	missense	23194	exon3			ATCCGGCTCGCCT	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.307C>A	5.37:g.15928178C>A	ENSP00000423630:p.Leu103Ile	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	54	15	0.277778	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486928	0.26686	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.10573	2.89;2.86;2.89	5.52	4.65	0.58169	.	0.324591	0.29868	N	0.011000	T	0.06781	0.0173	N	0.19112	0.55	0.38780	D	0.954745	B	0.09022	0.002	B	0.04013	0.001	T	0.26467	-1.0102	10	0.37606	T	0.19	.	6.5028	0.22178	0.1505:0.7051:0.0:0.1444	.	103	Q9UJT9	FBXL7_HUMAN	I	103;56;91	ENSP00000423630:L103I;ENSP00000425184:L56I;ENSP00000329632:L91I	ENSP00000329632:L91I	L	+	1	0	FBXL7	15981178	0.998000	0.40836	0.893000	0.35052	0.928000	0.56348	1.263000	0.33004	1.324000	0.45282	-0.311000	0.09066	CTC	.	.	none		0.677	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		A	15928178	C	A	15928178	3	1	16	1	0	0	0	0	1	0	0	0	5724	797	28	4	317	4	FBXL7	5	15928178	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	15671708	15928178	164987082	90	4055										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23526430	23526430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	caacatgtagaacgcaatcaCtcctctcagaacttcccagg	6	14	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:23526430C>T	ENST00000296682.3	+	11	1415	c.1233C>T	c.(1231-1233)caC>caT	p.H411H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	411					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACGCAATCACTCCTCTCAGA	0.483										HNSCC(3;0.000094)																											p.H411H		Atlas-SNP	.											.	PRDM9	344	.	0			c.C1233T						PASS	.						131	123	126					5																	23526430		2203	4300	6503	SO:0001819	synonymous_variant	56979	exon11			CAATCACTCCTCT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1233C>T	5.37:g.23526430C>T		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	231	38	0.164502	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																			.	.	none		0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23526430	C	T	23526430	2	4	16	1	0	0	0	0	0	0	0	1	12463	564	20	2		2	PRDM9	5	23526430	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7598252	23526430	157388830	91	4056										
CDH10	1008	hgsc.bcm.edu	37	chr5	24593514	24593514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttctttgctgtggcacaggcGtccttctgaacattatttct	8	10	3	1	rs140810299		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:24593514G>A	ENST00000264463.4	-	2	593	c.86C>T	c.(85-87)aCg>aTg	p.T29M	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	29					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGGCACAGGCGTCCTTCTGAA	0.403										HNSCC(23;0.051)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16405	0.0		0.001	False		,,,				2504	0.0				p.T29M		Atlas-SNP	.											.	CDH10	391	.	0			c.C86T						PASS	.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	105	98	101		86	2.5	1	5	dbSNP_134	101	0,8598		0,0,4299	no	missense	CDH10	NM_006727.3	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	29/789	24593514	1,13003	2203	4299	6502	SO:0001583	missense	1008	exon2			ACAGGCGTCCTTC	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.86C>T	5.37:g.24593514G>A	ENSP00000264463:p.Thr29Met	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	185	36	0.194595	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.53	1.375184	0.24857	2.27E-4	0.0	ENSG00000040731	ENST00000264463	T	0.56103	0.48	4.36	2.53	0.30540	.	0.543154	0.19943	N	0.102617	T	0.43897	0.1268	L	0.50333	1.59	0.28771	N	0.900348	B	0.17852	0.024	B	0.14578	0.011	T	0.41787	-0.9489	10	0.45353	T	0.12	.	9.2453	0.37523	0.1795:0.0:0.8205:0.0	.	29	Q9Y6N8	CAD10_HUMAN	M	29	ENSP00000264463:T29M	ENSP00000264463:T29M	T	-	2	0	CDH10	24629271	1.000000	0.71417	0.993000	0.49108	0.503000	0.33858	6.687000	0.74552	0.962000	0.38057	-0.244000	0.11960	ACG	G|1.000;A|0.000	0.000	strong		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		A	24593514	G	A	24593514	3	1	16	1	0	0	0	0	1	0	0	0	3096	1145	40	1	2324	1	CDH10	5	24593514	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1067084	24593514	156321746	92	4057										
FER	2241	hgsc.bcm.edu	37	chr5	108207168	108207168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcggttgaacagatagatccTagtacagaatacaataattt	7	6	0	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:108207168T>C	ENST00000281092.4	+	7	1152	c.768T>C	c.(766-768)ccT>ccC	p.P256P	FER_ENST00000536402.1_Silent_p.P256P|FER_ENST00000438717.2_Silent_p.P81P	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	256	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGATAGATCCTAGTACAGAAT	0.313																																					p.P256P	Colon(146;1051 1799 9836 27344 47401)	Atlas-SNP	.											FER,NS,carcinoma,+1,1	FER	100	1	0			c.T768C						scavenged	.						100	105	103					5																	108207168		2202	4298	6500	SO:0001819	synonymous_variant	2241	exon7			AGATCCTAGTACA	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.768T>C	5.37:g.108207168T>C		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	303	5	0.0165017	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																			.	.	none		0.313	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		C	108207168	T	C	108207168	2	2	16	1	0	0	0	0	0	0	0	1	5813	1509	53	3		3	FER	5	108207168	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	83613654	108207168	72708092	93	4058										
CAMK4	814	hgsc.bcm.edu	37	chr5	110560276	110560276	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgcgagcctcgtcccggattActggatcgacggctccaaca	11	15	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:110560276A>T	ENST00000282356.4	+	1	493	c.95A>T	c.(94-96)tAc>tTc	p.Y32F	CAMK4_ENST00000512453.1_Missense_Mutation_p.Y32F	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	32					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTCCCGGATTACTGGATCGAC	0.682																																					p.Y32F		Atlas-SNP	.											.	CAMK4	77	.	0			c.A95T						PASS	.						27	30	29					5																	110560276		2202	4300	6502	SO:0001583	missense	814	exon1			CGGATTACTGGAT	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.95A>T	5.37:g.110560276A>T	ENSP00000282356:p.Tyr32Phe	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	141	30	0.212766	NM_001744	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753876	0.49362	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.66995	0.73;-0.24;-0.24	4.16	4.16	0.48862	Protein kinase-like domain (1);	0.074149	0.56097	D	0.000028	T	0.51126	0.1656	N	0.19112	0.55	0.41715	D	0.989476	B	0.18610	0.029	B	0.18871	0.023	T	0.51348	-0.8717	10	0.48119	T	0.1	.	12.4796	0.55833	1.0:0.0:0.0:0.0	.	32	Q16566	KCC4_HUMAN	F	32	ENSP00000426940:Y32F;ENSP00000422634:Y32F;ENSP00000282356:Y32F	ENSP00000282356:Y32F	Y	+	2	0	CAMK4	110588175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.960000	0.56752	1.649000	0.50652	0.377000	0.23210	TAC	.	.	none		0.682	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		T	110560276	A	T	110560276	3	4	16	1	0	0	0	0	1	0	0	0	2605	391	14	5	97	5	CAMK4	5	110560276	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	2353108	110560276	70354984	94	4059										
EPB41L4A	64097	hgsc.bcm.edu	37	chr5	111500817	111500818	+	Splice_Site	INS	-	-	AAAAT													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tttagacccatttcttctctINSaaaatatatttgaaaaatgt					rs369027426		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:111500817_111500818insAAAAT	ENST00000261486.5	-	23	2209		c.e23-2		EPB41L4A_ENST00000507810.1_Intron|EPB41L4A-AS1_ENST00000413221.2_lincRNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATTTCTTCTCTAAAATATATTT	0.312																																					.		Atlas-Indel	.											.	EPB41L4A	130	.	0			c.1933-2->ATTTT						PASS	.																																			SO:0001630	splice_region_variant	64097	exon24			.	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1933-2->ATTTT	5.37:g.111500818_111500822dupAAAAT		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	130	11	0.0846154	NM_022140	A4FUI6	Splice_Site	INS	ENST00000261486.5	37	CCDS43350.1																																																																																			.	.	alt		0.312	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Intron	AAAAT	111500818	-	AAAAT	111500817	8	5	16	1	0	1	1	0	0	0	1	0	5155	1536	53	0	133	0	EPB41L4A	5	111500817	Splice_Site	INS	-	TCGA-FF-8062-01A-11D-2210-10	940541	111500817	69414443	95	4060										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140476395	140476395	+	Missense_Mutation	SNP	T	T	C													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cttctcccagccctacctgcTgctcccggaggcggcaccgg					rs384081|rs71574501		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:140476395T>C	ENST00000194155.4	+	1	2169	c.2021T>C	c.(2020-2022)cTg>cCg	p.L674P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	674			L -> P (in dbSNP:rs384081).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L674R(1)|p.L674>?(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCTGCTCCCGGAG	0.687																																					p.L674P		Atlas-SNP	.											PCDHB2,NS,carcinoma,0,1	PCDHB2	163	1	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|prostate(1)	c.T2021C						scavenged	.						64	64	64					5																	140476395		2186	4260	6446	SO:0001583	missense	56133	exon1			ACCTGCTGCTCCC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2021T>C	5.37:g.140476395T>C	ENSP00000194155:p.Leu674Pro	Somatic	32	4	0.125		WXS	Illumina HiSeq	Phase_I	19	5	0.263158	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.554966	0.00138	.	.	ENSG00000112852	ENST00000194155	T	0.50813	0.73	3.99	2.01	0.26516	.	.	.	.	.	T	0.04634	0.0126	N	0.00002	-3.62	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	9	0.02654	T	1	.	2.2987	0.04156	0.2432:0.3102:0.3437:0.103	rs384081;rs17096845;rs17844380	674	Q9Y5E7	PCDB2_HUMAN	P	674	ENSP00000194155:L674P	ENSP00000194155:L674P	L	+	2	0	PCDHB2	140456579	0.000000	0.05858	0.250000	0.24296	0.430000	0.31655	-0.349000	0.07731	0.795000	0.33922	-0.365000	0.07479	CTG	CT|0.500;TG|0.500	.	alt		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476395	T	C	140476395	3	2	16	1	0	0	0	0	1	0	0	0	11542	1580	55	3	2023	3	PCDHB2	5	140476395	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	28975578	140476395	40438865	96	4061	70	2								
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140476396	140476396	+	Silent	SNP	G	G	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttctcccagccctacctgctGctcccggaggcggcaccggc					rs429198|rs71574501	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:140476396G>T	ENST00000194155.4	+	1	2170	c.2022G>T	c.(2020-2022)ctG>ctT	p.L674L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	674			L -> P (in dbSNP:rs384081).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L674>?(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTACCTGCTGCTCCCGGAGG	0.692																																					p.L674L		Atlas-SNP	.											PCDHB2,NS,carcinoma,+1,1	PCDHB2	163	1	1	Complex(1)	large_intestine(1)	c.G2022T						scavenged	.						65	65	65					5																	140476396		2188	4262	6450	SO:0001819	synonymous_variant	56133	exon1			CCTGCTGCTCCCG	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2022G>T	5.37:g.140476396G>T		Somatic	31	4	0.129032		WXS	Illumina HiSeq	Phase_I	19	5	0.263158	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			G|0.895;T|0.105	0.105	strong		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140476396	G	T	140476396	2	4	16	1	0	0	0	0	0	0	0	1	11542	1306	46	4		4	PCDHB2	5	140476396	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1	140476396	40438864	97	4062	70	2								
PCDH12	51294	hgsc.bcm.edu	37	chr5	141325355	141325355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccgggtcaggggcgctcagcCggtccagggccagacctgtg	17	14	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:141325355C>T	ENST00000231484.3	-	4	4356	c.3146G>A	c.(3145-3147)cGg>cAg	p.R1049Q		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1049					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTCAGCCGGTCCAGGGC	0.677																																					p.R1049Q		Atlas-SNP	.											PCDH12,NS,carcinoma,+1,1	PCDH12	133	1	0			c.G3146A						scavenged	.						30	34	33					5																	141325355		2201	4291	6492	SO:0001583	missense	51294	exon4			CTCAGCCGGTCCA	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3146G>A	5.37:g.141325355C>T	ENSP00000231484:p.Arg1049Gln	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	204	3	0.0147059	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299221	0.23650	.	.	ENSG00000113555	ENST00000231484	T	0.52295	0.67	5.55	3.71	0.42584	.	0.654612	0.15274	N	0.271073	T	0.34890	0.0913	L	0.47716	1.5	0.24248	N	0.995332	P	0.35328	0.495	B	0.25291	0.059	T	0.14952	-1.0454	10	0.40728	T	0.16	.	7.865	0.29533	0.1611:0.7521:0.0:0.0867	.	1049	Q9NPG4	PCD12_HUMAN	Q	1049	ENSP00000231484:R1049Q	ENSP00000231484:R1049Q	R	-	2	0	PCDH12	141305539	1.000000	0.71417	0.702000	0.30337	0.167000	0.22549	3.377000	0.52425	0.660000	0.30964	0.655000	0.94253	CGG	.	.	none		0.677	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		T	141325355	C	T	141325355	3	4	16	1	0	0	0	0	1	0	0	0	11510	652	23	1	412	1	PCDH12	5	141325355	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	848959	141325355	39589905	98	4063										
RBM27	54439	hgsc.bcm.edu	37	chr5	145613242	145613242	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggtccaggtcctggccatagTatgagacttcctgttcccca	10	13	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:145613242T>G	ENST00000265271.5	+	7	1246	c.1080T>G	c.(1078-1080)agT>agG	p.S360R	RBM27_ENST00000506502.1_Missense_Mutation_p.S360R	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	360	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCCATAGTATGAGACTTC	0.562																																					p.S360R		Atlas-SNP	.											.	RBM27	119	.	0			c.T1080G						PASS	.						41	42	42					5																	145613242		1568	3582	5150	SO:0001583	missense	54439	exon7			CCATAGTATGAGA	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1080T>G	5.37:g.145613242T>G	ENSP00000265271:p.Ser360Arg	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	106	31	0.292453	NM_018989	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406658	0.42715	.	.	ENSG00000091009	ENST00000265271	T	0.46451	0.87	5.52	1.85	0.25348	.	0.476754	0.24611	N	0.037051	T	0.20414	0.0491	N	0.08118	0	0.27233	N	0.959348	B;B	0.23058	0.001;0.079	B;B	0.21546	0.001;0.035	T	0.19257	-1.0311	10	0.20519	T	0.43	-1.2398	10.0623	0.42282	0.0:0.3859:0.0:0.6141	.	360;360	Q9P2N5;B3KY61	RBM27_HUMAN;.	R	360	ENSP00000265271:S360R	ENSP00000265271:S360R	S	+	3	2	RBM27	145593435	0.269000	0.24143	0.979000	0.43373	0.998000	0.95712	-0.066000	0.11598	0.139000	0.18822	0.533000	0.62120	AGT	.	.	none		0.562	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		G	145613242	T	G	145613242	3	3	16	1	0	0	0	0	1	0	0	0	13127	1635	57	5	1106	5	RBM27	5	145613242	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	4287887	145613242	35302018	99	4064										
JAKMIP2	9832	hgsc.bcm.edu	37	chr5	146997574	146997574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gccgtaacttttctactgccGtcctcagctcctcttgctgt	7	15	3	0	rs181696687		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:146997574G>A	ENST00000265272.5	-	19	2713	c.2246C>T	c.(2245-2247)aCg>aTg	p.T749M	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.T707M|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.T728M	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	749						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTACTGCCGTCCTCAGCTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18172	0.0		0.001	False		,,,				2504	0.0				p.T749M		Atlas-SNP	.											JAKMIP2,colon,carcinoma,0,1	JAKMIP2	154	1	0			c.C2246T						scavenged	.						166	147	153					5																	146997574		2203	4300	6503	SO:0001583	missense	9832	exon19			ACTGCCGTCCTCA	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2246C>T	5.37:g.146997574G>A	ENSP00000265272:p.Thr749Met	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	229	5	0.0218341	NM_001270941	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.19	2.462034	0.43736	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.23348	1.91;1.91;1.91	5.61	4.73	0.59995	.	0.055194	0.64402	D	0.000001	T	0.23965	0.0580	N	0.08118	0	0.47276	D	0.999377	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.53954	0.738;0.738;0.738;0.656	T	0.15636	-1.0430	10	0.46703	T	0.11	.	15.3137	0.74056	0.0:0.2644:0.7356:0.0	.	707;749;728;749	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	M	728;749;707;728	ENSP00000421398:T728M;ENSP00000265272:T749M;ENSP00000328989:T707M	ENSP00000265272:T749M	T	-	2	0	JAKMIP2	146977767	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	5.475000	0.66787	1.496000	0.48567	0.563000	0.77884	ACG	G|1.000;A|0.000	0.000	strong		0.438	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	146997574	G	A	146997574	3	1	16	1	0	0	0	0	1	0	0	0	7941	1145	40	1	198	1	JAKMIP2	5	146997574	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1384332	146997574	33917686	100	4065										
DDX41	51428	hgsc.bcm.edu	37	chr5	176942194	176942194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agtccacactcacatggtggGgatgccctggatctgaatgg	13	10	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:176942194G>A	ENST00000507955.1	-	7	1160	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACATGGTGGGGATGCCCTGG	0.532																																					p.P213S		Atlas-SNP	.											DDX41_ENST00000507955,NS,carcinoma,0,1	DDX41	49	1	0			c.C637T						scavenged	.						255	217	230					5																	176942194		2203	4300	6503	SO:0001583	missense	51428	exon7			TGGTGGGGATGCC	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.637C>T	5.37:g.176942194G>A	ENSP00000422753:p.Pro213Ser	Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	191	2	0.0104712	NM_016222	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189742	0.94923	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.52754	0.65;0.65	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.77918	-0.2408	10	0.87932	D	0	-28.2262	19.4714	0.94965	0.0:0.0:1.0:0.0	.	213	Q9UJV9	DDX41_HUMAN	S	231;213	ENSP00000330349:P231S;ENSP00000422753:P213S	ENSP00000330349:P231S	P	-	1	0	DDX41	176874800	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.497000	0.97970	2.596000	0.87737	0.563000	0.77884	CCC	.	.	none		0.532	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		A	176942194	G	A	176942194	3	1	16	1	0	0	0	0	1	0	0	0	4361	1232	43	2	1275	2	DDX41	5	176942194	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	29944620	176942194	3973066	101	4066										
HNRNPH1	3187	hgsc.bcm.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	17	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																					p.Y372Y		Atlas-SNP	.											HNRPH1,NS,carcinoma,-2,3	HNRNPH1	62	3	0			c.C1116T						scavenged	.						105	102	103					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187	exon10			GCTACCGTAAGCA	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A		Somatic	383	3	0.0078329		WXS	Illumina HiSeq	Phase_I	399	7	0.0175439	NM_001257293	B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG	.	.	none		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	A	179044053	G	A	179044053	5	1	16	1	0	0	0	0	0	0	1	0	7266	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2101859	179044053	1871207	102	4067										
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17602826	17602826	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttttttaatttacaggcagaGaatatgttattccatccttg	6	6	0	1	rs74444948	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:17602826G>T	ENST00000259963.3	+	2	773	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	240						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TACAGGCAGAGAATATGTTAT	0.328																																					p.E240X		Atlas-SNP	.											FAM8A1,NS,carcinoma,-1,2	FAM8A1	26	2	0			c.G718T						scavenged	.						100	101	101					6																	17602826		2203	4299	6502	SO:0001587	stop_gained	51439	exon2			GGCAGAGAATATG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.718G>T	6.37:g.17602826G>T	ENSP00000259963:p.Glu240*	Somatic	58	5	0.0862069		WXS	Illumina HiSeq	Phase_I	53	9	0.169811	NM_016255	B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	37	6.420554	0.97555	.	.	ENSG00000137414	ENST00000259963	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.04	18.5673	0.91121	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000259963:E240X	E	+	1	0	FAM8A1	17710805	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.467000	0.97671	2.356000	0.79943	0.644000	0.83932	GAA	G|0.992;T|0.008	0.008	strong		0.328	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			T	17602826	G	T	17602826	4	4	16	1	0	0	0	0	0	1	0	0	5649	943	33	4	724	4	FAM8A1	6	17602826	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		17602826	153512241	103	4068										
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17606159	17606159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cagggaagttcctgctggggCttcgagttgtgacatgtgat	15	7	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:17606159C>A	ENST00000259963.3	+	4	1067	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	338	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGCTGGGGCTTCGAGTTGT	0.423																																					p.L338I		Atlas-SNP	.											FAM8A1,colon,carcinoma,-1,1	FAM8A1	26	1	0			c.C1012A						scavenged	.						137	124	128					6																	17606159		2203	4300	6503	SO:0001583	missense	51439	exon4			CTGGGGCTTCGAG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1012C>A	6.37:g.17606159C>A	ENSP00000259963:p.Leu338Ile	Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	215	3	0.0139535	NM_016255	B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932068	0.73442	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.87	4.98	0.66077	RDD (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	L	0.37630	1.12	0.58432	D	0.999993	D	0.76494	0.999	D	0.71656	0.974	T	0.61978	-0.6951	9	0.44086	T	0.13	-12.3698	16.897	0.86102	0.0:0.8718:0.1282:0.0	.	338	Q9UBU6	FA8A1_HUMAN	I	88;338	.	ENSP00000259963:L338I	L	+	1	0	FAM8A1	17714138	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.438000	0.80431	1.435000	0.47434	0.650000	0.86243	CTT	.	.	none		0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			A	17606159	C	A	17606159	3	1	16	1	0	0	0	0	1	0	0	0	5649	797	28	4	1026	4	FAM8A1	6	17606159	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3333	17606159	153508908	104	4069										
TRIM38	10475	hgsc.bcm.edu	37	chr6	25983696	25983696	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctgtgcaaaaagaaaggctaTgtagcacttacttctccccc	7	12	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:25983696T>A	ENST00000357085.3	+	8	1655	c.1179T>A	c.(1177-1179)taT>taA	p.Y393*	U91328.21_ENST00000608931.1_RNA|TRIM38_ENST00000349458.3_Nonsense_Mutation_p.Y393*	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	393	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGAAAGGCTATGTAGCACTTA	0.478																																					p.Y393X		Atlas-SNP	.											.	TRIM38	50	.	0			c.T1179A						PASS	.						124	122	123					6																	25983696		2203	4300	6503	SO:0001587	stop_gained	10475	exon8			AGGCTATGTAGCA	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1179T>A	6.37:g.25983696T>A	ENSP00000349596:p.Tyr393*	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	170	61	0.358824	NM_006355	B2R862	Nonsense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	27.6	4.847153	0.91277	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	.	.	.	4.25	0.426	0.16479	.	0.336568	0.21891	N	0.067596	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4119	0.27021	0.0:0.455:0.0:0.545	.	.	.	.	X	393	.	ENSP00000230099:Y393X	Y	+	3	2	TRIM38	26091675	0.000000	0.05858	0.001000	0.08648	0.227000	0.25037	-0.723000	0.04952	0.067000	0.16545	0.533000	0.62120	TAT	.	.	none		0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			A	25983696	T	A	25983696	4	1	16	1	0	0	0	0	0	1	0	0	16509	1471	51	5	1201	5	TRIM38	6	25983696	Nonsense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	8377537	25983696	145131371	105	4070										
HIST1H1A	3024	hgsc.bcm.edu	37	chr6	26017331	26017331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atttactttttcttgggtgcCgctttcttgggtttggcagt	11	7	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:26017331C>T	ENST00000244573.3	-	1	709	c.630G>A	c.(628-630)gcG>gcA	p.A210A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	210					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTGGGTGCCGCTTTCTTGG	0.463																																					p.A210A		Atlas-SNP	.											.	HIST1H1A	25	.	0			c.G630A						PASS	.						106	109	108					6																	26017331		2203	4300	6503	SO:0001819	synonymous_variant	3024	exon1			GGGTGCCGCTTTC	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.630G>A	6.37:g.26017331C>T		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	245	104	0.42449	NM_005325	Q3MJ34	Silent	SNP	ENST00000244573.3	37	CCDS4569.1																																																																																			.	.	none		0.463	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		T	26017331	C	T	26017331	2	4	16	1	0	0	0	0	0	0	0	1	7122	639	23	1		1	HIST1H1A	6	26017331	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	33635	26017331	145097736	106	4071										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910335	29910335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccccagacgccgaggatggCcgtcatggcgccccgaaccc	12	18	1	1	rs200058378		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:29910335C>T	ENST00000396634.1	+	3	346	c.5C>T	c.(4-6)gCc>gTc	p.A2V	HLA-A_ENST00000376802.2_Missense_Mutation_p.A2V|HLA-A_ENST00000376809.5_Missense_Mutation_p.A2V|HLA-A_ENST00000376806.5_Missense_Mutation_p.A2V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	2					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGAGGATGGCCGTCATGGCG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A2V		Atlas-SNP	.											HLA-A,NS,carcinoma,-1,1	HLA-A	89	1	0			c.C5T						scavenged	.						36	38	37					6																	29910335		2201	4296	6497	SO:0001583	missense	3105	exon1	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GGATGGCCGTCAT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.5C>T	6.37:g.29910335C>T	ENSP00000379873:p.Ala2Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	140	5	0.0357143	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	8.183	0.794292	0.16327	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00662	5.94;5.93;5.94;5.94	2.6	-4.04	0.04010	.	.	.	.	.	T	0.00552	0.0018	L	0.27053	0.805	0.09310	N	1	D;B;D;B	0.76494	0.999;0.003;0.997;0.001	D;B;D;B	0.75484	0.986;0.014;0.986;0.014	T	0.50065	-0.8871	9	0.56958	D	0.05	.	4.6272	0.12484	0.4071:0.1733:0.4196:0.0	.	2;2;2;2	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	V	2	ENSP00000379873:A2V;ENSP00000366002:A2V;ENSP00000366005:A2V;ENSP00000365998:A2V	ENSP00000348012:A2V	A	+	2	0	HLA-A	30018314	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.890000	0.01613	-0.952000	0.03649	-0.531000	0.04308	GCC	C|0.999;T|0.001	0.001	weak		0.672	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29910335	C	T	29910335	3	4	16	1	0	0	0	0	1	0	0	0	7195	739	26	2	7	2	HLA-A	6	29910335	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3893004	29910335	141204732	107	4072										
BAT1	7919	hgsc.bcm.edu	37	chr6	31500627	31500627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgttgtccttcagtttcacgTagtactgctgcaacccatgc	8	13	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:31500627T>C	ENST00000396172.1	-	7	1427	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	DDX39B_ENST00000458640.1_Missense_Mutation_p.Y266C|DDX39B_ENST00000415382.2_Missense_Mutation_p.Y188C|DDX39B_ENST00000376177.2_Missense_Mutation_p.Y266C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.Y281C|DDX39B_ENST00000462421.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	266	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGTTTCACGTAGTACTGCTG	0.552																																					p.Y266C		Atlas-SNP	.											.	DDX39B	38	.	0			c.A797G						PASS	.						125	100	109					6																	31500627		1511	2709	4220	SO:0001583	missense	7919	exon7			TTCACGTAGTACT	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.797A>G	6.37:g.31500627T>C	ENSP00000379475:p.Tyr266Cys	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	208	93	0.447115	NM_004640	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.74|19.74	3.883915|3.883915	0.72410|0.72410	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000417023|ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214	.|D;T;T;T;T;T;T	.|0.92752	.|-3.1;3.44;3.44;3.44;3.44;3.44;3.33	5.46|5.46	4.28|4.28	0.50868|0.50868	.|Helicase, C-terminal (1);	.|0.079694	.|0.51477	.|D	.|0.000087	D|D	0.95053|0.95053	0.8398|0.8398	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.988	.|D;D;D;P	.|0.91635	.|0.999;0.999;0.994;0.693	D|D	0.95212|0.95212	0.8326|0.8326	5|10	.|0.87932	.|D	.|0	-12.1399|-12.1399	10.7351|10.7351	0.46120|0.46120	0.0:0.0:0.1602:0.8398|0.0:0.0:0.1602:0.8398	.|.	.|188;266;266;281	.|B4DP52;Q13838;Q5STU3;F8VQ10	.|.;DX39B_HUMAN;.;.	A|C	30|266;266;266;281;188;188;266	.|ENSP00000365347:Y266C;ENSP00000416269:Y266C;ENSP00000379475:Y266C;ENSP00000412582:Y281C;ENSP00000392669:Y188C;ENSP00000408000:Y188C;ENSP00000399371:Y266C	.|ENSP00000365347:Y266C	T|Y	-|-	1|2	0|0	DDX39B|DDX39B	31608606|31608606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.673000|7.673000	0.83973|0.83973	0.886000|0.886000	0.36113|0.36113	0.533000|0.533000	0.62120|0.62120	ACG|TAC	.	.	none		0.552	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		C	31500627	T	C	31500627	3	2	16	1	0	0	0	0	1	0	0	0	1318	1638	57	2	509	2	BAT1	6	31500627	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	1590292	31500627	139614440	108	4073										
TNF	7124	hgsc.bcm.edu	37	chr6	31543635	31543635	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctcagcctcttctccttcctGatcgtggcaggcgccaccac	8	18	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:31543635G>A	ENST00000449264.2	+	1	292	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	39		Cleavage; by SPPL2A or SPPL2B.			activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TCTCCTTCCTGATCGTGGCAG	0.652									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.L39L		Atlas-SNP	.											.	TNF	15	.	0			c.G117A						PASS	.						66	67	67					6																	31543635		2203	4300	6503	SO:0001819	synonymous_variant	7124	exon1	Familial Cancer Database	incl.: Familial Head and Neck Cancer	CTTCCTGATCGTG	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.117G>A	6.37:g.31543635G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	69	25	0.362319	NM_000594	O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	CCDS4702.1																																																																																			.	.	none		0.652	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			A	31543635	G	A	31543635	2	1	16	1	0	0	0	0	0	0	0	1	16268	1277	45	2		2	TNF	6	31543635	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	43008	31543635	139571432	109	4074										
TNF	7124	hgsc.bcm.edu	37	chr6	31543674	31543674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acgctcttctgcctgctgcaCtttggagtgatcggccccca	10	15	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:31543674C>G	ENST00000449264.2	+	1	331	c.156C>G	c.(154-156)caC>caG	p.H52Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	52		Cleavage; by SPPL2A or SPPL2B.			activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCCTGCTGCACTTTGGAGTGA	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.H52Q		Atlas-SNP	.											.	TNF	15	.	0			c.C156G						PASS	.						45	45	45					6																	31543674		2203	4300	6503	SO:0001583	missense	7124	exon1	Familial Cancer Database	incl.: Familial Head and Neck Cancer	GCTGCACTTTGGA	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.156C>G	6.37:g.31543674C>G	ENSP00000398698:p.His52Gln	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	78	24	0.307692	NM_000594	O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256573	0.39896	.	.	ENSG00000232810	ENST00000449264	T	0.74737	-0.87	5.77	3.99	0.46301	.	0.294531	0.38058	N	0.001824	T	0.50120	0.1597	L	0.58583	1.82	0.51767	D	0.999937	B	0.18166	0.026	B	0.18871	0.023	T	0.51004	-0.8760	10	0.23302	T	0.38	.	6.9811	0.24704	0.0:0.743:0.0:0.257	.	52	P01375	TNFA_HUMAN	Q	52	ENSP00000398698:H52Q	ENSP00000398698:H52Q	H	+	3	2	TNF	31651653	0.998000	0.40836	1.000000	0.80357	0.943000	0.58893	0.436000	0.21526	1.445000	0.47624	0.655000	0.94253	CAC	.	.	none		0.627	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			G	31543674	C	G	31543674	3	3	16	1	0	0	0	0	1	0	0	0	16268	564	20	4	158	4	TNF	6	31543674	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	39	31543674	139571393	110	4075										
C6orf27	80737	hgsc.bcm.edu	37	chr6	31744405	31744405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggtgacgttgagcgctgccTcctcagttaggtcttggtgg	16	9	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:31744405T>C	ENST00000375688.4	-	2	352	c.152A>G	c.(151-153)gAg>gGg	p.E51G	VWA7_ENST00000375686.3_Missense_Mutation_p.E51G|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.E51G|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	51						extracellular region (GO:0005576)											GAGCGCTGCCTCCTCAGTTAG	0.642																																					p.E51G		Atlas-SNP	.											.	.	.	.	0			c.A152G						PASS	.						19	9	13					6																	31744405		1410	2507	3917	SO:0001583	missense	80737	exon2			GCTGCCTCCTCAG		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.152A>G	6.37:g.31744405T>C	ENSP00000364840:p.Glu51Gly	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	158	67	0.424051	NM_025258	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427819	0.62733	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.13778	2.56;2.56;2.56	4.92	3.74	0.42951	.	0.199559	0.41823	D	0.000801	T	0.05914	0.0154	L	0.50333	1.59	0.31474	N	0.667961	B	0.29646	0.253	B	0.31337	0.128	T	0.13737	-1.0498	10	0.51188	T	0.08	-10.4076	10.0134	0.42001	0.0:0.0:0.1703:0.8297	.	51	Q9Y334	G7C_HUMAN	G	51	ENSP00000364840:E51G;ENSP00000364838:E51G;ENSP00000390554:E51G	ENSP00000364838:E51G	E	-	2	0	C6orf27	31852384	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.464000	0.53057	0.881000	0.35993	0.455000	0.32223	GAG	.	.	none		0.642	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		C	31744405	T	C	31744405	3	2	16	1	0	0	0	0	1	0	0	0	2362	1551	54	3	2586	3	C6orf27	6	31744405	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	200731	31744405	139370662	111	4076										
ZBTB12	221527	hgsc.bcm.edu	37	chr6	31868698	31868698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctctttgaggcctattttggGctcaatgaactggctgaggg	13	8	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:31868698G>A	ENST00000375527.2	-	2	560	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	129					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)|lung(5)|prostate(1)|skin(1)	10						CCTATTTTGGGCTCAATGAAC	0.582																																					p.P129S		Atlas-SNP	.											.	ZBTB12	25	.	0			c.C385T						PASS	.						74	73	74					6																	31868698		2203	4300	6503	SO:0001583	missense	221527	exon2			TTTTGGGCTCAAT	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.385C>T	6.37:g.31868698G>A	ENSP00000364677:p.Pro129Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_181842	B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266422	0.59540	.	.	ENSG00000204366	ENST00000375527	T	0.14766	2.48	4.38	3.51	0.40186	.	0.071421	0.56097	U	0.000028	T	0.09335	0.0230	N	0.19112	0.55	0.45066	D	0.998089	D	0.69078	0.997	D	0.68765	0.96	T	0.19289	-1.0310	10	0.19590	T	0.45	.	11.2674	0.49118	0.0928:0.0:0.9072:0.0	.	129	Q9Y330	ZBT12_HUMAN	S	129	ENSP00000364677:P129S	ENSP00000364677:P129S	P	-	1	0	ZBTB12	31976677	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	6.542000	0.73869	0.823000	0.34589	0.423000	0.28283	CCC	.	.	none		0.582	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		A	31868698	G	A	31868698	3	1	16	1	0	0	0	0	1	0	0	0	17522	1203	42	2	998	2	ZBTB12	6	31868698	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	124293	31868698	139246369	112	4077										
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		Atlas-SNP	.											.	PEX6	44	.	0			c.G399T						PASS	.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_000287	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327	0.327	strong		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	16	1	0	0	0	0	0	0	0	1	11750	697	25	4		4	PEX6	6	42946490	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	11077792	42946490	128168577	113	4078										
RNGTT	8732	hgsc.bcm.edu	37	chr6	89554108	89554108	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acagatgtcaaaaaacggctTatttctgacgctaaatggtt	8	7	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:89554108T>A	ENST00000369485.4	-	11	1423	c.1237A>T	c.(1237-1239)Aag>Tag	p.K413*	RNGTT_ENST00000369475.3_Nonsense_Mutation_p.K413*|RNGTT_ENST00000538899.1_Nonsense_Mutation_p.K353*|RNGTT_ENST00000265607.6_Nonsense_Mutation_p.K413*	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	413	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		AAAAACGGCTTATTTCTGACG	0.333																																					p.K413X		Atlas-SNP	.											.	RNGTT	52	.	0			c.A1237T						PASS	.						137	136	137					6																	89554108		2203	4300	6503	SO:0001587	stop_gained	8732	exon11			ACGGCTTATTTCT	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1237A>T	6.37:g.89554108T>A	ENSP00000358497:p.Lys413*	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	67	16	0.238806	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Nonsense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	40	7.950168	0.98577	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	.	.	.	5.7	5.7	0.88788	.	0.119116	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5296	15.9509	0.79835	0.0:0.0:0.0:1.0	.	.	.	.	X	413;413;353;384;413	.	ENSP00000265607:K413X	K	-	1	0	RNGTT	89610827	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.953000	0.87836	2.175000	0.68902	0.460000	0.39030	AAG	.	.	none		0.333	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			A	89554108	T	A	89554108	4	1	16	1	0	0	0	0	0	1	0	0	13503	1763	61	5	580	5	RNGTT	6	89554108	Nonsense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	46607618	89554108	81560959	114	4079										
LAMA4	3910	hgsc.bcm.edu	37	chr6	112537639	112537639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgcagggcacacattctcccGacagggtgtgaaagaatcca	11	12	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:112537639G>A	ENST00000230538.7	-	3	624	c.227C>T	c.(226-228)tCg>tTg	p.S76L	LAMA4_ENST00000522006.1_Missense_Mutation_p.S76L|LAMA4_ENST00000431543.2_Missense_Mutation_p.S76L|LAMA4_ENST00000389463.4_Missense_Mutation_p.S76L|LAMA4_ENST00000424408.2_Missense_Mutation_p.S76L|RP1-142L7.9_ENST00000603682.1_lincRNA|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	76					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACATTCTCCCGACAGGGTGTG	0.433																																					p.S76L		Atlas-SNP	.											.	LAMA4	227	.	0			c.C227T						PASS	.						111	93	99					6																	112537639		2203	4300	6503	SO:0001583	missense	3910	exon3			TCTCCCGACAGGG		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.227C>T	6.37:g.112537639G>A	ENSP00000230538:p.Ser76Leu	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	100	25	0.25	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819282	0.50633	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543;ENST00000243219;ENST00000521690	T;T;T;T;T;D;D	0.97731	2.5;2.49;2.49;2.49;1.6;-4.51;-4.51	5.84	5.84	0.93424	.	0.216402	0.41001	D	0.000980	D	0.96917	0.8993	N	0.24115	0.695	0.80722	D	1	D;P;D	0.89917	1.0;0.916;0.998	D;P;D	0.74023	0.964;0.541;0.982	D	0.96804	0.9591	10	0.38643	T	0.18	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	76;76;76	Q6LET9;Q16363;Q16363-2	.;LAMA4_HUMAN;.	L	76	ENSP00000230538:S76L;ENSP00000429488:S76L;ENSP00000374114:S76L;ENSP00000416470:S76L;ENSP00000430336:S76L;ENSP00000428583:S76L;ENSP00000412136:S76L	ENSP00000230538:S76L	S	-	2	0	LAMA4	112644332	0.998000	0.40836	0.238000	0.24106	0.008000	0.06430	6.253000	0.72453	2.748000	0.94277	0.650000	0.86243	TCG	.	.	none		0.433	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112537639	G	A	112537639	3	1	16	1	0	0	0	0	1	0	0	0	8608	1059	37	1	5392	1	LAMA4	6	112537639	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	22983531	112537639	58577428	115	4080										
TMEM200A	114801	hgsc.bcm.edu	37	chr6	130761752	130761752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccggctttattccccatctgGtttttttcttattttaggag	7	9	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:130761752G>T	ENST00000296978.3	+	3	1056	c.185G>T	c.(184-186)gGt>gTt	p.G62V	TMEM200A_ENST00000545622.1_Missense_Mutation_p.G62V|TMEM200A_ENST00000392429.1_Missense_Mutation_p.G62V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	62						integral component of membrane (GO:0016021)		p.G62A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCCCATCTGGTTTTTTTCTT	0.473																																					p.G62V		Atlas-SNP	.											TMEM200A,NS,carcinoma,0,2	TMEM200A	108	2	2	Substitution - Missense(2)	kidney(2)	c.G185T						PASS	.						113	115	114					6																	130761752		2203	4300	6503	SO:0001583	missense	114801	exon3			CATCTGGTTTTTT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.185G>T	6.37:g.130761752G>T	ENSP00000296978:p.Gly62Val	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	207	37	0.178744	NM_001258277	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787946	0.70337	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78499	-0.2180	9	0.87932	D	0	.	19.305	0.94157	0.0:0.0:1.0:0.0	.	62	Q86VY9	T200A_HUMAN	V	62	.	ENSP00000296978:G62V	G	+	2	0	TMEM200A	130803445	1.000000	0.71417	0.950000	0.38849	0.599000	0.36880	9.809000	0.99208	2.547000	0.85894	0.655000	0.94253	GGT	.	.	none		0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		T	130761752	G	T	130761752	3	4	16	1	0	0	0	0	1	0	0	0	16120	1261	44	4	187	4	TMEM200A	6	130761752	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	18224113	130761752	40353315	116	4081										
SGK1	6446	hgsc.bcm.edu	37	chr6	134493825	134493825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aacgatgttcagtgaatgcaGgtagcccaaggcactggcta	12	9	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134493825G>A	ENST00000237305.7	-	7	725	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	SGK1_ENST00000367857.5_Silent_p.L203L|SGK1_ENST00000413996.3_Silent_p.L227L|SGK1_ENST00000367858.5_Silent_p.L308L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.L169L|SGK1_ENST00000528577.1_Silent_p.L241L	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGTGAATGCAGGTAGCCCAAG	0.502																																					p.L308L		Atlas-SNP	.											SGK1_ENST00000528577,NS,carcinoma,0,5	SGK1	387	5	0			c.C922T						PASS	.						71	63	66					6																	134493825		2203	4300	6503	SO:0001819	synonymous_variant	6446	exon9			AATGCAGGTAGCC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.637C>T	6.37:g.134493825G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	15	0.138889	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	CCDS5170.1																																																																																			.	.	none		0.502	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134493825	G	A	134493825	2	1	16	1	0	0	0	0	0	0	0	1	14207	991	35	2		2	SGK1	6	134493825	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	3732073	134493825	36621242	117	4082			1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134494426	134494426	+	Missense_Mutation	SNP	G	G	C													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcatacctctttctttttcaGgattgctttcttctgtaaaa							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134494426G>C	ENST00000237305.7	-	5	491	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	SGK1_ENST00000367857.5_Missense_Mutation_p.L125V|SGK1_ENST00000413996.3_Missense_Mutation_p.L149V|SGK1_ENST00000367858.5_Missense_Mutation_p.L230V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.L135V|SGK1_ENST00000528577.1_Missense_Mutation_p.L163V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	135	Glu/Lys-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTCTTTTTCAGGATTGCTTTC	0.378																																					p.L230V		Atlas-SNP	.											.	SGK1	387	.	0			c.C688G						PASS	.						114	113	113					6																	134494426		2203	4300	6503	SO:0001583	missense	6446	exon7			TTTTCAGGATTGC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.403C>G	6.37:g.134494426G>C	ENSP00000237305:p.Leu135Val	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	149	27	0.181208	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450776	0.26074	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;1.88	6.17	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.33753	1.03	0.80722	D	1	B;B;B;B;B;B	0.27140	0.007;0.169;0.017;0.002;0.013;0.003	B;B;B;B;B;B	0.31442	0.01;0.13;0.1;0.006;0.035;0.01	T	0.31280	-0.9949	10	0.16896	T	0.51	.	15.9715	0.80025	0.0648:0.0:0.9352:0.0	.	163;149;135;125;230;135	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	230;149;135;125;163;135	ENSP00000356832:L230V;ENSP00000396242:L149V;ENSP00000237305:L135V;ENSP00000356831:L125V;ENSP00000434450:L163V;ENSP00000434302:L135V	ENSP00000237305:L135V	L	-	1	2	SGK1	134536119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.089000	0.57685	1.599000	0.50093	0.655000	0.94253	CTG	.	.	none		0.378	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			C	134494426	G	C	134494426	3	2	16	1	0	0	0	0	1	0	0	0	14207	991	35	4	924	4	SGK1	6	134494426	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	601	134494426	36620641	118	4083	71	2	1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134494432	134494432	+	Missense_Mutation	SNP	C	C	G													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctctttctttttcaggattgCtttcttctgtaaaactttga							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134494432C>G	ENST00000237305.7	-	5	485	c.397G>C	c.(397-399)Gca>Cca	p.A133P	SGK1_ENST00000367857.5_Missense_Mutation_p.A123P|SGK1_ENST00000413996.3_Missense_Mutation_p.A147P|SGK1_ENST00000367858.5_Missense_Mutation_p.A228P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.A133P|SGK1_ENST00000528577.1_Missense_Mutation_p.A161P	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	133	Glu/Lys-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTCAGGATTGCTTTCTTCTGT	0.383																																					p.A228P		Atlas-SNP	.											.	SGK1	387	.	0			c.G682C						PASS	.						114	114	114					6																	134494432		2203	4300	6503	SO:0001583	missense	6446	exon7			GGATTGCTTTCTT	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.397G>C	6.37:g.134494432C>G	ENSP00000237305:p.Ala133Pro	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	157	21	0.133758	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565036	0.86439	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;1.81	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096985	0.64402	D	0.000001	T	0.61702	0.2368	N	0.24115	0.695	0.80722	D	1	D;D;P;P;D;P	0.67145	0.977;0.979;0.907;0.936;0.996;0.948	P;P;P;P;P;P	0.60117	0.706;0.578;0.864;0.578;0.869;0.703	T	0.64326	-0.6434	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	161;147;133;123;228;133	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	P	228;147;133;123;161;133	ENSP00000356832:A228P;ENSP00000396242:A147P;ENSP00000237305:A133P;ENSP00000356831:A123P;ENSP00000434450:A161P;ENSP00000434302:A133P	ENSP00000237305:A133P	A	-	1	0	SGK1	134536125	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	5.920000	0.70017	2.941000	0.99782	0.655000	0.94253	GCA	.	.	none		0.383	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			G	134494432	C	G	134494432	3	3	16	1	0	0	0	0	1	0	0	0	14207	797	28	4	930	4	SGK1	6	134494432	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6	134494432	36620635	119	4084	71	2	1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134495159	134495159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttactggaggagaagggttgGcattcataagctcaggctcc	13	8	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134495159G>A	ENST00000237305.7	-	3	300	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SGK1_ENST00000367857.5_Missense_Mutation_p.A61V|SGK1_ENST00000413996.3_Missense_Mutation_p.A85V|SGK1_ENST00000367858.5_Missense_Mutation_p.A166V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.A71V|SGK1_ENST00000528577.1_Missense_Mutation_p.A99V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	71					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGAAGGGTTGGCATTCATAAG	0.453																																					p.A166V		Atlas-SNP	.											SGK1_ENST00000528577,NS,lymphoid_neoplasm,0,5	SGK1	387	5	0			c.C497T						PASS	.						152	146	148					6																	134495159		2203	4300	6503	SO:0001583	missense	6446	exon5			GGGTTGGCATTCA	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.212C>T	6.37:g.134495159G>A	ENSP00000237305:p.Ala71Val	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	64	11	0.171875	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658406	0.47467	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.72835	-0.68;-0.68;-0.68;-0.66;-0.66;-0.69	5.99	5.12	0.69794	.	0.399737	0.30076	N	0.010479	T	0.37293	0.0998	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.12630	0.001;0.001;0.001;0.001;0.006;0.0	B;B;B;B;B;B	0.14578	0.004;0.003;0.002;0.005;0.011;0.001	T	0.26950	-1.0088	10	0.25106	T	0.35	.	14.2908	0.66275	0.0:0.0:0.7295:0.2705	.	99;85;71;61;166;71	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	166;85;71;61;99;71;135	ENSP00000356832:A166V;ENSP00000396242:A85V;ENSP00000237305:A71V;ENSP00000356831:A61V;ENSP00000434450:A99V;ENSP00000434302:A71V	ENSP00000237305:A71V	A	-	2	0	SGK1	134536852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.654000	0.54453	1.523000	0.49018	0.655000	0.94253	GCC	.	.	none		0.453	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134495159	G	A	134495159	3	1	16	1	0	0	0	0	1	0	0	0	14207	1203	42	2	1123	2	SGK1	6	134495159	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	727	134495159	36619908	120	4085			1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134495170	134495170	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaagggttggcattcataagCtcaggctcctgaggttggga	15	7	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134495170C>G	ENST00000237305.7	-	3	289	c.201G>C	c.(199-201)gaG>gaC	p.E67D	SGK1_ENST00000367857.5_Missense_Mutation_p.E57D|SGK1_ENST00000413996.3_Missense_Mutation_p.E81D|SGK1_ENST00000367858.5_Missense_Mutation_p.E162D|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.E67D|SGK1_ENST00000528577.1_Missense_Mutation_p.E95D	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	67					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATTCATAAGCTCAGGCTCCT	0.483																																					p.E162D		Atlas-SNP	.											.	SGK1	387	.	0			c.G486C						PASS	.						150	144	146					6																	134495170		2203	4300	6503	SO:0001583	missense	6446	exon5			CATAAGCTCAGGC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.201G>C	6.37:g.134495170C>G	ENSP00000237305:p.Glu67Asp	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893621	0.52121	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.66;-0.66;-0.64;-0.64	5.99	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.45137	1.4	0.80722	D	1	B;B;B;B;B;B	0.18461	0.005;0.028;0.001;0.013;0.017;0.001	B;B;B;B;B;B	0.21917	0.012;0.011;0.001;0.007;0.037;0.003	T	0.36383	-0.9750	10	0.30854	T	0.27	.	7.4903	0.27458	0.0:0.6523:0.0:0.3477	.	95;81;67;57;162;67	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	D	162;81;67;57;95;67;131	ENSP00000356832:E162D;ENSP00000396242:E81D;ENSP00000237305:E67D;ENSP00000356831:E57D;ENSP00000434450:E95D;ENSP00000434302:E67D	ENSP00000237305:E67D	E	-	3	2	SGK1	134536863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.890000	0.39728	0.848000	0.35191	0.655000	0.94253	GAG	.	.	none		0.483	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			G	134495170	C	G	134495170	3	3	16	1	0	0	0	0	1	0	0	0	14207	796	28	4	1134	4	SGK1	6	134495170	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	11	134495170	36619897	121	4086			1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134495211	134495211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gatcttcaagatggactgaaCttcagggctgcagggaataa	12	7	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134495211C>G	ENST00000237305.7	-	3	248	c.160G>C	c.(160-162)Gtt>Ctt	p.V54L	SGK1_ENST00000367857.5_Missense_Mutation_p.V44L|SGK1_ENST00000413996.3_Missense_Mutation_p.V68L|SGK1_ENST00000367858.5_Missense_Mutation_p.V149L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.V54L|SGK1_ENST00000528577.1_Missense_Mutation_p.V82L	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	54	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATGGACTGAACTTCAGGGCTG	0.498																																					p.V149L		Atlas-SNP	.											SGK1_ENST00000528577,NS,lymphoid_neoplasm,0,5	SGK1	387	5	0			c.G445C						PASS	.						122	115	117					6																	134495211		2203	4300	6503	SO:0001583	missense	6446	exon5			ACTGAACTTCAGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.160G>C	6.37:g.134495211C>G	ENSP00000237305:p.Val54Leu	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	73	6	0.0821918	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408672	0.83340	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.38077	1.71;1.71;1.71;1.71;1.71;1.71;1.16	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.76574	2.34	0.80722	D	1	P;D;B;B;B;B	0.67145	0.529;0.996;0.117;0.289;0.262;0.19	B;D;B;B;B;B	0.76071	0.17;0.987;0.056;0.105;0.276;0.056	T	0.56890	-0.7904	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	82;68;54;44;149;54	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	L	149;68;54;44;82;54;118	ENSP00000356832:V149L;ENSP00000396242:V68L;ENSP00000237305:V54L;ENSP00000356831:V44L;ENSP00000434450:V82L;ENSP00000434302:V54L;ENSP00000435577:V118L	ENSP00000237305:V54L	V	-	1	0	SGK1	134536904	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GTT	.	.	none		0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			G	134495211	C	G	134495211	3	3	16	1	0	0	0	0	1	0	0	0	14207	565	20	4	1175	4	SGK1	6	134495211	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	41	134495211	36619856	122	4087			1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134495706	134495706	+	Missense_Mutation	SNP	C	C	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	taaagtcgttcagacccatcCtcctctgcttcatgaaagct							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134495706C>T	ENST00000237305.7	-	2	183	c.95G>A	c.(94-96)aGg>aAg	p.R32K	SGK1_ENST00000367857.5_Missense_Mutation_p.R22K|SGK1_ENST00000413996.3_Missense_Mutation_p.R46K|SGK1_ENST00000367858.5_Missense_Mutation_p.R127K|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Missense_Mutation_p.R32K|SGK1_ENST00000528577.1_Missense_Mutation_p.R60K	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	32	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.R32M(1)|p.R127M(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGACCCATCCTCCTCTGCTT	0.428											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R127K		Atlas-SNP	.											SGK1_ENST00000367858,NS,lymphoid_neoplasm,0,2	SGK1	387	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G380A						PASS	.						79	79	79					6																	134495706		2203	4300	6503	SO:0001583	missense	6446	exon4			CCCATCCTCCTCT	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.95G>A	6.37:g.134495706C>T	ENSP00000237305:p.Arg32Lys	Somatic	76	0	0	1611	WXS	Illumina HiSeq	Phase_I	48	12	0.25	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823755	0.71143	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.43688	1.39;1.39;1.39;1.39;1.39;1.39;0.94	5.89	5.89	0.94794	.	0.083857	0.85682	D	0.000000	T	0.27559	0.0677	L	0.37630	1.12	0.80722	D	1	B;B;B;B;B;B	0.15719	0.014;0.001;0.011;0.004;0.014;0.003	B;B;B;B;B;B	0.25405	0.03;0.002;0.02;0.03;0.06;0.007	T	0.03545	-1.1026	10	0.40728	T	0.16	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	60;46;32;22;127;32	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	K	127;46;32;22;60;32;96	ENSP00000356832:R127K;ENSP00000396242:R46K;ENSP00000237305:R32K;ENSP00000356831:R22K;ENSP00000434450:R60K;ENSP00000434302:R32K;ENSP00000435577:R96K	ENSP00000237305:R32K	R	-	2	0	SGK1	134537399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.276000	0.51646	2.783000	0.95769	0.655000	0.94253	AGG	.	.	none		0.428	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			T	134495706	C	T	134495706	3	4	16	1	0	0	0	0	1	0	0	0	14207	681	24	2	1244	2	SGK1	6	134495706	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	495	134495706	36619361	123	4088	72	2	1	22		8	6	1887	N	G_C	1.118801e-11
SGK1	6446	hgsc.bcm.edu	37	chr6	134495711	134495711	+	Silent	SNP	C	C	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcgttcagacccatcctcctCtgcttcatgaaagctgtgga							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:134495711C>T	ENST00000237305.7	-	2	178	c.90G>A	c.(88-90)caG>caA	p.Q30Q	SGK1_ENST00000367857.5_Silent_p.Q20Q|SGK1_ENST00000413996.3_Silent_p.Q44Q|SGK1_ENST00000367858.5_Silent_p.Q125Q|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Silent_p.Q30Q|SGK1_ENST00000528577.1_Silent_p.Q58Q	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	30	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCATCCTCCTCTGCTTCATGA	0.433											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q125Q		Atlas-SNP	.											.	SGK1	387	.	0			c.G375A						PASS	.						76	76	76					6																	134495711		2203	4300	6503	SO:0001819	synonymous_variant	6446	exon4			CCTCCTCTGCTTC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.90G>A	6.37:g.134495711C>T		Somatic	78	0	0	1611	WXS	Illumina HiSeq	Phase_I	47	13	0.276596	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	CCDS5170.1																																																																																			.	.	none		0.433	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			T	134495711	C	T	134495711	2	4	16	1	0	0	0	0	0	0	0	1	14207	912	32	2		2	SGK1	6	134495711	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5	134495711	36619356	124	4089	72	2	1	22		8	6	1887	N	G_C	1.118801e-11
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136582487	136582487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acaatcccatccccttggtaTttgtcatgagtccatttagg	7	11	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:136582487T>C	ENST00000531224.1	-	12	2925	c.2673A>G	c.(2671-2673)aaA>aaG	p.K891K	BCLAF1_ENST00000527536.1_Silent_p.K842K|BCLAF1_ENST00000392348.2_Silent_p.K840K|BCLAF1_ENST00000031135.9_Silent_p.K109K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Silent_p.K889K|BCLAF1_ENST00000353331.4_Silent_p.K840K|BCLAF1_ENST00000530767.1_Silent_p.K718K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	891					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)		CCCCTTGGTATTTGTCATGAG	0.408																																					p.K891K	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											BCLAF1_ENST00000531224,lower_third,carcinoma,-2,1	BCLAF1	203	1	0			c.A2673G						scavenged	.						237	240	239					6																	136582487		2203	4300	6503	SO:0001819	synonymous_variant	9774	exon12			TTGGTATTTGTCA	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.2673A>G	6.37:g.136582487T>C		Somatic	347	0	0		WXS	Illumina HiSeq	Phase_I	354	4	0.0112994	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.238	0.411983	0.11812	.	.	ENSG00000029363	ENST00000534762	.	.	.	5.5	4.35	0.52113	.	.	.	.	.	T	0.49795	0.1578	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49872	-0.8893	4	.	.	.	-8.6357	11.122	0.48296	0.0:0.0725:0.0:0.9275	.	.	.	.	V	158	.	.	I	-	1	0	BCLAF1	136624180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.276000	0.43408	0.928000	0.37168	0.533000	0.62120	ATA	.	.	none		0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		C	136582487	T	C	136582487	2	2	16	1	0	0	0	0	0	0	0	1	1383	1490	52	2		2	BCLAF1	6	136582487	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	2086776	136582487	34532580	125	4090										
ZBTB2	57621	hgsc.bcm.edu	37	chr6	151687092	151687092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggcttttctggataaatttgCgtccacatattgtgcactcg	9	9	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:151687092C>T	ENST00000325144.4	-	3	1249	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GATAAATTTGCGTCCACATAT	0.527																																					p.R370H		Atlas-SNP	.											.	ZBTB2	30	.	0			c.G1109A						PASS	.						114	111	112					6																	151687092		2203	4300	6503	SO:0001583	missense	57621	exon3			AATTTGCGTCCAC	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1109G>A	6.37:g.151687092C>T	ENSP00000323183:p.Arg370His	Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	333	14	0.042042	NM_020861	A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155967	0.57259	.	.	ENSG00000181472	ENST00000325144	T	0.61510	0.1	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66268	-0.5966	10	0.87932	D	0	-41.439	19.976	0.97309	0.0:1.0:0.0:0.0	.	370	Q8N680	ZBTB2_HUMAN	H	370	ENSP00000323183:R370H	ENSP00000323183:R370H	R	-	2	0	ZBTB2	151728785	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	7.704000	0.84595	2.713000	0.92767	0.655000	0.94253	CGC	.	.	none		0.527	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		T	151687092	C	T	151687092	3	4	16	1	0	0	0	0	1	0	0	0	17525	768	27	1	439	1	ZBTB2	6	151687092	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	15104605	151687092	19427975	126	4091										
TIAM2	26230	hgsc.bcm.edu	37	chr6	155458711	155458711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaagcttgagctggtggcacGaaggaaatggaaacagtact	14	6	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:155458711G>A	ENST00000461783.3	+	7	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	532	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572																																					p.R532Q		Atlas-SNP	.											TIAM2,NS,malignant_melanoma,0,1	TIAM2	161	1	0			c.G1595A						scavenged	.						71	74	73					6																	155458711		2203	4300	6503	SO:0001583	missense	26230	exon4			TGGCACGAAGGAA		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1595G>A	6.37:g.155458711G>A	ENSP00000437188:p.Arg532Gln	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	25	6	0.24	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662895	0.96734	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.82076	-0.0636	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	532;532	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	532;778;532;532;532;532;532	ENSP00000437188:R532Q;ENSP00000434901:R532Q;ENSP00000407746:R532Q;ENSP00000327315:R532Q;ENSP00000353528:R532Q;ENSP00000433348:R532Q	ENSP00000327315:R532Q	R	+	2	0	TIAM2	155500403	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGA	.	.	none		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155458711	G	A	155458711	3	1	16	1	0	0	0	0	1	0	0	0	15888	1058	37	1	1601	1	TIAM2	6	155458711	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	3771619	155458711	15656356	127	4092										
CCR6	1235	hgsc.bcm.edu	37	chr6	167550741	167550741	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tggtgtgtgagaaggaagtaCaagtcctcaggcttctcctg	13	8	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr6:167550741C>A	ENST00000341935.5	+	3	1575	c.1023C>A	c.(1021-1023)taC>taA	p.Y341*	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y341*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y341*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	341					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GAAGGAAGTACAAGTCCTCAG	0.493																																					p.Y341X		Atlas-SNP	.											.	CCR6	36	.	0			c.C1023A						PASS	.						75	73	74					6																	167550741		2203	4300	6503	SO:0001587	stop_gained	1235	exon3			GAAGTACAAGTCC	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1023C>A	6.37:g.167550741C>A	ENSP00000343952:p.Tyr341*	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	137	27	0.19708	NM_004367	E1P5C6|P78553|Q92846	Nonsense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358683	0.95854	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	.	.	.	4.64	0.654	0.17833	.	6.339280	0.01476	U	0.016474	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9574	0.19281	0.0:0.5143:0.1513:0.3344	.	.	.	.	X	341	.	ENSP00000343952:Y341X	Y	+	3	2	CCR6	167470731	0.636000	0.27207	0.000000	0.03702	0.011000	0.07611	0.126000	0.15769	0.122000	0.18314	0.655000	0.94253	TAC	.	.	none		0.493	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			A	167550741	C	A	167550741	4	1	16	1	0	0	0	0	0	1	0	0	2945	489	17	4	1029	4	CCR6	6	167550741	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	12092030	167550741	3564326	128	4093										
HECW1	23072	hgsc.bcm.edu	37	chr7	43283515	43283515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgggtcattatgctgctgcAcctgtgtagtgtgaaggtca	14	7	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:43283515A>G	ENST00000395891.2	+	3	616	c.11A>G	c.(10-12)cAc>cGc	p.H4R	HECW1_ENST00000453890.1_Missense_Mutation_p.H4R|AC004692.4_ENST00000457315.1_RNA|AC004692.4_ENST00000458590.1_RNA|AC004692.4_ENST00000458680.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	4					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGCTGCTGCACCTGTGTAGT	0.448																																					p.H4R		Atlas-SNP	.											.	HECW1	540	.	0			c.A11G						PASS	.						235	234	234					7																	43283515		2082	4218	6300	SO:0001583	missense	23072	exon3			TGCTGCACCTGTG	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.11A>G	7.37:g.43283515A>G	ENSP00000379228:p.His4Arg	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	222	52	0.234234	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	6.186	0.402502	0.11696	.	.	ENSG00000002746	ENST00000395891;ENST00000453890	T;T	0.34472	1.36;1.36	4.67	4.67	0.58626	.	2.499770	0.02291	U	0.070289	T	0.49983	0.1589	N	0.22421	0.69	0.31746	N	0.635233	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	T	0.46133	-0.9213	10	0.20519	T	0.43	.	14.1181	0.65167	1.0:0.0:0.0:0.0	.	4;4	B4DH42;Q76N89	.;HECW1_HUMAN	R	4	ENSP00000379228:H4R;ENSP00000407774:H4R	ENSP00000379228:H4R	H	+	2	0	HECW1	43250040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	1.742000	0.51746	0.460000	0.39030	CAC	.	.	none		0.448	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		G	43283515	A	G	43283515	3	3	16	1	0	0	0	0	1	0	0	0	7042	159	6	2	13	2	HECW1	7	43283515	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10		43283515	115855148	129	4094										
STK17A	9263	hgsc.bcm.edu	37	chr7	43664438	43664438	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	attccaggagaatttatctaCtgagcaatatttccctttag	6	8	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:43664438C>G	ENST00000319357.5	+	7	1421	c.1242C>G	c.(1240-1242)taC>taG	p.Y414*		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	414					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATTTATCTACTGAGCAATAT	0.348																																					p.Y414X		Atlas-SNP	.											.	STK17A	31	.	0			c.C1242G						PASS	.						37	39	38					7																	43664438		2200	4298	6498	SO:0001587	stop_gained	9263	exon7			TATCTACTGAGCA	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.1242C>G	7.37:g.43664438C>G	ENSP00000319192:p.Tyr414*	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_004760	A4D1V6|Q8IVC8	Nonsense_Mutation	SNP	ENST00000319357.5	37	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861793	0.97893	.	.	ENSG00000164543	ENST00000319357	.	.	.	4.94	4.94	0.65067	.	0.000000	0.43260	D	0.000582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1523	0.89678	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000319192:Y414X	Y	+	3	2	STK17A	43630963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.531000	0.53546	2.259000	0.74868	0.557000	0.71058	TAC	.	.	none		0.348	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		G	43664438	C	G	43664438	4	3	16	1	0	0	0	0	0	1	0	0	15289	576	20	4	1268	4	STK17A	7	43664438	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	380923	43664438	115474225	130	4095										
UPP1	7378	hgsc.bcm.edu	37	chr7	48142960	48142960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	taaagctgctgtactatgccCggtgctccaacgtcactatc	8	13	1	0	rs140206015		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:48142960C>T	ENST00000331803.4	+	7	1011	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R130W|UPP1_ENST00000395564.4_Missense_Mutation_p.R130W|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	130					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)	GTACTATGCCCGGTGCTCCAA	0.522																																					p.R130W		Atlas-SNP	.											UPP1,NS,carcinoma,-1,1	UPP1	35	1	0			c.C388T						scavenged	.						195	164	174					7																	48142960		2203	4300	6503	SO:0001583	missense	7378	exon6			TATGCCCGGTGCT	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.388C>T	7.37:g.48142960C>T	ENSP00000330032:p.Arg130Trp	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	215	4	0.0186047	NM_003364	D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743077	0.69418	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.43	-3.61	0.04556	Nucleoside phosphorylase domain (1);	0.491473	0.21862	N	0.068001	T	0.62417	0.2426	M	0.78049	2.395	0.44816	D	0.997823	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.898	T	0.64537	-0.6384	10	0.72032	D	0.01	-15.333	13.0541	0.58969	0.2932:0.6403:0.0665:0.0	.	130;130	B4DND0;Q16831	.;UPP1_HUMAN	W	130	ENSP00000405209:R130W;ENSP00000330032:R130W;ENSP00000342878:R130W;ENSP00000378931:R130W;ENSP00000390118:R130W	ENSP00000330032:R130W	R	+	1	2	UPP1	48109485	0.001000	0.12720	0.015000	0.15790	0.790000	0.44656	0.143000	0.16115	-1.151000	0.02836	-0.457000	0.05445	CGG	C|1.000;G|0.000	.	alt		0.522	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		T	48142960	C	T	48142960	3	4	16	1	0	0	0	0	1	0	0	0	17009	643	23	1	402	1	UPP1	7	48142960	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	4478522	48142960	110995703	131	4096										
BCL7B	9275	hgsc.bcm.edu	37	chr7	72952324	72952324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggaggttcatcagcaacttcCgaggagggcagggagggctc	17	9	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:72952324C>T	ENST00000223368.2	-	5	879	c.456G>A	c.(454-456)tcG>tcA	p.S152S	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Silent_p.S95S	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	152							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCAACTTCCGAGGAGGGCA	0.537																																					p.S152S		Atlas-SNP	.											BCL7B,NS,carcinoma,-1,1	BCL7B	16	1	0			c.G456A						scavenged	.						115	104	108					7																	72952324		2203	4300	6503	SO:0001819	synonymous_variant	9275	exon5			AACTTCCGAGGAG	X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.456G>A	7.37:g.72952324C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	149	2	0.0134228	NM_001707	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Silent	SNP	ENST00000223368.2	37	CCDS5550.1																																																																																			.	.	none		0.537	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707		T	72952324	C	T	72952324	2	4	16	1	0	0	0	0	0	0	0	1	1379	639	23	1		1	BCL7B	7	72952324	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	24809364	72952324	86186339	132	4097										
POM121C	100101267	hgsc.bcm.edu	37	chr7	75050842	75050842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgcccacgttgaaggcaaacGgtgtgctctggccggtggtg	16	10	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:75050842G>A	ENST00000257665.5	-	11	3418	c.3419C>T	c.(3418-3420)cCg>cTg	p.P1140L	POM121C_ENST00000453279.2_Missense_Mutation_p.P898L|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1140	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GAAGGCAAACGGTGTGCTCTG	0.607																																					p.P898L		Atlas-SNP	.											POM121C,NS,carcinoma,0,1	POM121C	46	1	0			c.C2693T						scavenged	.						9	13	12					7																	75050842		2145	4273	6418	SO:0001583	missense	100101267	exon13			GCAAACGGTGTGC		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3419C>T	7.37:g.75050842G>A	ENSP00000257665:p.Pro1140Leu	Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	294	3	0.0102041	NM_001099415	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37		.	.	.	.	.	.	.	.	.	.	G	10.66	1.414049	0.25465	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.27890	3.09;1.64	3.28	2.39	0.29439	.	0.207503	0.24107	N	0.041492	T	0.27384	0.0672	L	0.60455	1.87	0.09310	N	1	P	0.50710	0.938	B	0.40940	0.344	T	0.17471	-1.0368	10	0.87932	D	0	.	8.0747	0.30710	0.1193:0.0:0.8807:0.0	.	1140	A8CG34	P121C_HUMAN	L	1140;898	ENSP00000257665:P1140L;ENSP00000414208:P898L	ENSP00000257665:P1140L	P	-	2	0	POM121C	74888778	0.963000	0.33076	0.001000	0.08648	0.219000	0.24729	4.332000	0.59279	0.484000	0.27630	0.195000	0.17529	CCG	.	.	none		0.607	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		A	75050842	G	A	75050842	3	1	16	1	0	0	0	0	1	0	0	0	12240	1116	39	1	282	1	POM121C	7	75050842	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2098518	75050842	84087821	133	4098										
PCLO	27445	hgsc.bcm.edu	37	chr7	82595469	82595469	+	Frame_Shift_Del	DEL	T	T	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttttttcttcagggagtggcTttttttcttgaagagctgaa							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:82595469delT	ENST00000333891.9	-	4	3972	c.3635delA	c.(3634-3636)aagfs	p.K1212fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1212fs	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						AGGGAGTGGCTTTTTTTCTTG	0.368																																					p.K1212fs		Pindel,Atlas-Indel	.											.	PCLO	1506	.	0			c.3636delG						PASS	.						164	155	158					7																	82595469		1796	4076	5872	SO:0001589	frameshift_variant	27445	exon4			.	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.3635delA	7.37:g.82595469delT	ENSP00000334319:p.Lys1212fs	Somatic	189	.	.		WXS	Illumina HiSeq	Phase_I	259	39	0.151	NM_014510		Frame_Shift_Del	DEL	ENST00000333891.9	37	CCDS47630.1																																																																																			.	.	none		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82595469	T	-	82595469	7	5	16	1	0	1	0	1	0	0	0	0	11583	1609	56	0	11898	0	PCLO	7	82595469	Frame_Shift_Del	DEL	T	TCGA-FF-8062-01A-11D-2210-10	7544627	82595469	76543194	134	4099										
SEMA3A	10371	hgsc.bcm.edu	37	chr7	83610791	83610791	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgttgaaccaatatatagttGttgctgtggaaagagtttac	10	5	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:83610791G>A	ENST00000265362.4	-	14	1812	c.1498C>T	c.(1498-1500)Caa>Taa	p.Q500*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.Q500*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	500	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATATATAGTTGTTGCTGTGGA	0.418																																					p.Q500X		Atlas-SNP	.											.	SEMA3A	121	.	0			c.C1498T						PASS	.						55	56	56					7																	83610791		2203	4300	6503	SO:0001587	stop_gained	10371	exon14			ATAGTTGTTGCTG	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1498C>T	7.37:g.83610791G>A	ENSP00000265362:p.Gln500*	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	90	14	0.155556	NM_006080		Nonsense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	40	8.476428	0.98827	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	X	500	.	ENSP00000265362:Q500X	Q	-	1	0	SEMA3A	83448727	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	9.807000	0.99171	2.687000	0.91594	0.655000	0.94253	CAA	.	.	none		0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		A	83610791	G	A	83610791	4	1	16	1	0	0	0	0	0	1	0	0	14024	1386	48	2	833	2	SEMA3A	7	83610791	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1015322	83610791	75527872	135	4100										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113519094	113519094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	attatctctttttccccacaCgtcttcacaatctgtttgtc	3	13	4	0	rs199968105		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:113519094C>T	ENST00000284601.3	-	4	2121	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	685					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCCCCACACGTCTTCACAA	0.388																																					p.V685M		Atlas-SNP	.											PPP1R3A,right_upper_lobe,carcinoma,+2,1	PPP1R3A	317	1	0			c.G2053A						scavenged	.						257	251	253					7																	113519094		2203	4300	6503	SO:0001583	missense	5506	exon4			CCCACACGTCTTC	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2053G>A	7.37:g.113519094C>T	ENSP00000284601:p.Val685Met	Somatic	285	1	0.00350877		WXS	Illumina HiSeq	Phase_I	347	4	0.0115274	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.399609	0.00014	.	.	ENSG00000154415	ENST00000284601	T	0.14516	2.5	5.8	-2.4	0.06583	.	1.697530	0.02436	N	0.084042	T	0.04679	0.0127	N	0.00972	-1.085	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33854	-0.9852	10	0.30078	T	0.28	-8.422	7.0302	0.24962	0.0:0.2938:0.3934:0.3128	.	685	Q16821	PPR3A_HUMAN	M	685	ENSP00000284601:V685M	ENSP00000284601:V685M	V	-	1	0	PPP1R3A	113306330	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.691000	0.01920	-0.382000	0.07870	-1.281000	0.01382	GTG	C|0.999;T|0.001	0.001	weak		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113519094	C	T	113519094	3	4	16	1	0	0	0	0	1	0	0	0	12371	536	19	1	1319	1	PPP1R3A	7	113519094	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	29908303	113519094	45619569	136	4101										
FLNC	2318	hgsc.bcm.edu	37	chr7	128483878	128483878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggcagtgacagtgacttatgGcggggaccctgtccccaaga	14	11	0	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr7:128483878G>A	ENST00000325888.8	+	19	3101	c.2840G>A	c.(2839-2841)gGc>gAc	p.G947D	FLNC_ENST00000346177.6_Missense_Mutation_p.G947D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	947					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGACTTATGGCGGGGACCCT	0.532																																					p.G947D		Atlas-SNP	.											.	FLNC	339	.	0			c.G2840A						PASS	.						85	87	86					7																	128483878		1932	4140	6072	SO:0001583	missense	2318	exon19			CTTATGGCGGGGA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2840G>A	7.37:g.128483878G>A	ENSP00000327145:p.Gly947Asp	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	114	37	0.324561	NM_001127487	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746324	0.69418	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91521	-2.86;-2.86	5.32	5.32	0.75619	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95440	0.8524	10	0.87932	D	0	.	18.9962	0.92813	0.0:0.0:1.0:0.0	.	947;947	Q14315-2;Q14315	.;FLNC_HUMAN	D	947	ENSP00000327145:G947D;ENSP00000344002:G947D	ENSP00000327145:G947D	G	+	2	0	FLNC	128271114	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	9.783000	0.99037	2.481000	0.83766	0.561000	0.74099	GGC	.	.	none		0.532	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128483878	G	A	128483878	3	1	16	1	0	0	0	0	1	0	0	0	5935	1203	42	2	2914	2	FLNC	7	128483878	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	14964784	128483878	30654785	137	4102										
ADAM32	203102	hgsc.bcm.edu	37	chr8	39091507	39091507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgtgatttatgctttcgtacGagattctgtatgcataactg	9	6	1	2	rs536001133		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:39091507G>A	ENST00000379907.4	+	16	1851	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	ADAM32_ENST00000519315.1_Missense_Mutation_p.R469Q|ADAM32_ENST00000437682.2_Missense_Mutation_p.R476Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	575						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R574Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GCTTTCGTACGAGATTCTGTA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12732	0.0		0.0	False		,,,				2504	0.0				p.R575Q		Atlas-SNP	.											ADAM32,colon,carcinoma,0,1	ADAM32	70	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1724A						scavenged	.						77	68	70					8																	39091507		1857	4096	5953	SO:0001583	missense	203102	exon16			TCGTACGAGATTC	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1724G>A	8.37:g.39091507G>A	ENSP00000369238:p.Arg575Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507520	0.44558	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.22134	1.97;1.97;1.97	4.88	2.92	0.33932	ADAM, cysteine-rich (2);	0.968320	0.08316	N	0.964580	T	0.28433	0.0703	L	0.38838	1.175	0.09310	N	1	D;D;P	0.76494	0.981;0.999;0.462	P;D;B	0.68483	0.72;0.958;0.169	T	0.21759	-1.0236	10	0.12103	T	0.63	.	5.0256	0.14383	0.1066:0.0:0.6705:0.2228	.	476;469;575	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	476;469;575	ENSP00000405978:R476Q;ENSP00000429422:R469Q;ENSP00000369238:R575Q	ENSP00000369238:R575Q	R	+	2	0	ADAM32	39210664	0.001000	0.12720	0.020000	0.16555	0.155000	0.21991	0.435000	0.21510	1.286000	0.44565	0.650000	0.86243	CGA	.	.	none		0.393	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39091507	G	A	39091507	3	1	16	1	0	0	0	0	1	0	0	0	249	1058	37	1	1786	1	ADAM32	8	39091507	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		39091507	107272515	138	4103										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733102	52733102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtctagaggctgaggaataaGctgattacccacaaatacgt	10	8	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:52733102G>A	ENST00000360540.5	-	7	1289	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F	PCMTD1_ENST00000522514.1_Missense_Mutation_p.L295F|PCMTD1_ENST00000544451.1_Missense_Mutation_p.L219F|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	295						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.L295F(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATAAGCTGATTACCC	0.418																																					p.L295F		Atlas-SNP	.											PCMTD1,extremity,malignant_melanoma,0,3	PCMTD1	73	3	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C883T						scavenged	.						178	172	174					8																	52733102		2203	4300	6503	SO:0001583	missense	115294	exon6			GAATAAGCTGATT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.883C>T	8.37:g.52733102G>A	ENSP00000353739:p.Leu295Phe	Somatic	275	2	0.00727273		WXS	Illumina HiSeq	Phase_I	310	6	0.0193548	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025780	0.75390	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.49720	0.77;0.77;0.77	5.97	5.1	0.69264	.	0.063724	0.64402	N	0.000004	T	0.64800	0.2631	L	0.57536	1.79	0.80722	D	1	D;B;P	0.76494	0.999;0.412;0.954	D;B;P	0.85130	0.997;0.148;0.649	T	0.65459	-0.6163	10	0.46703	T	0.11	-65.0248	14.9395	0.70983	0.0681:0.0:0.9319:0.0	.	165;219;295	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	F	295;219;295	ENSP00000353739:L295F;ENSP00000444026:L219F;ENSP00000428099:L295F	ENSP00000353739:L295F	L	-	1	0	PCMTD1	52895655	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.107000	0.77047	1.532000	0.49169	0.655000	0.94253	CTT	.	.	none		0.418	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733102	G	A	52733102	3	1	16	1	0	0	0	0	1	0	0	0	11586	971	34	2	194	2	PCMTD1	8	52733102	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	13641595	52733102	93630920	139	4104										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	7	7	3	1	rs200377849		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTTATGAAATTTCTAAGTG	0.388																																					p.N257K		Atlas-SNP	.											PCMTD1,trunk,malignant_melanoma,0,1	PCMTD1	73	1	1	Substitution - Missense(1)	skin(1)	c.T771G						scavenged	.						78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294	exon6			TATGAAATTTCTA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys	Somatic	266	2	0.0075188		WXS	Illumina HiSeq	Phase_I	235	6	0.0255319	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT	.	.	weak		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	16	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	112	52733214	93630808	140	4105										
C8orf45	157777	hgsc.bcm.edu	37	chr8	67796149	67796149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgtttgttgatgagtctagtAcagacaactgaccgtaacaa	9	7	1	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:67796149A>G	ENST00000422365.2	+	9	1164	c.993A>G	c.(991-993)gtA>gtG	p.V331V	MCMDC2_ENST00000492775.1_Silent_p.V331V|MCMDC2_ENST00000313616.5_Silent_p.V331V|MCMDC2_ENST00000396592.3_Silent_p.V331V|MCMDC2_ENST00000541540.1_Silent_p.V268V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	331					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TGAGTCTAGTACAGACAACTG	0.378																																					p.V331V		Atlas-SNP	.											.	MCMDC2	84	.	0			c.A993G						PASS	.						75	71	72					8																	67796149		2203	4300	6503	SO:0001819	synonymous_variant	157777	exon9			TCTAGTACAGACA	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.993A>G	8.37:g.67796149A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	103	5	0.0485437	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	ENST00000422365.2	37	CCDS6197.2																																																																																			.	.	none		0.378	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		G	67796149	A	G	67796149	2	3	16	1	0	0	0	0	0	0	0	1	2430	378	14	2		2	C8orf45	8	67796149	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	15062935	67796149	78567873	141	4106										
SULF1	23213	hgsc.bcm.edu	37	chr8	70512971	70512971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccagactttgatgtcagtgGatgattctgtggagagggta	14	5	2	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:70512971G>A	ENST00000260128.4	+	9	1585	c.868G>A	c.(868-870)Gat>Aat	p.D290N	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.D290N|SULF1_ENST00000419716.3_Missense_Mutation_p.D290N|SULF1_ENST00000458141.2_Missense_Mutation_p.D290N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	290					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GATGTCAGTGGATGATTCTGT	0.438																																					p.D290N		Atlas-SNP	.											.	SULF1	153	.	0			c.G868A						PASS	.						163	155	158					8																	70512971		2203	4300	6503	SO:0001583	missense	23213	exon9			TCAGTGGATGATT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.868G>A	8.37:g.70512971G>A	ENSP00000260128:p.Asp290Asn	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	106	22	0.207547	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929844	0.92389	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042703	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.97261	0.9904	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	290	Q8IWU6	SULF1_HUMAN	N	290	ENSP00000403040:D290N;ENSP00000260128:D290N;ENSP00000385704:D290N;ENSP00000390315:D290N	ENSP00000260128:D290N	D	+	1	0	SULF1	70675525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.905000	0.87416	2.937000	0.99478	0.650000	0.86243	GAT	.	.	none		0.438	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		A	70512971	G	A	70512971	3	1	16	1	0	0	0	0	1	0	0	0	15369	1174	41	2	886	2	SULF1	8	70512971	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2716822	70512971	75851051	142	4107										
PI15	51050	hgsc.bcm.edu	37	chr8	75737657	75737657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggatatccccaaagccaggcGgaagcgctacatttcgcaga	11	12	0	1	rs141788887	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:75737657G>A	ENST00000260113.2	+	2	352	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R58Q	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	58						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAAGCCAGGCGGAAGCGCTAC	0.448													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		17888	0.0		0.0	False		,,,				2504	0.0				p.R58Q		Atlas-SNP	.											.	PI15	73	.	0			c.G173A						PASS	.	G	GLN/ARG	28,4378	35.2+/-66.4	0,28,2175	85	76	79		173	4.4	1	8	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PI15	NM_015886.3	43	0,29,6474	AA,AG,GG		0.0116,0.6355,0.223	probably-damaging	58/259	75737657	29,12977	2203	4300	6503	SO:0001583	missense	51050	exon2			CCAGGCGGAAGCG	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.173G>A	8.37:g.75737657G>A	ENSP00000260113:p.Arg58Gln	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	87	14	0.16092	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	13.03	2.115943	0.37339	0.006355	1.16E-4	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09630	2.96;2.96	5.35	4.45	0.53987	CAP domain (2);	0.169477	0.49916	D	0.000123	T	0.07773	0.0195	M	0.68593	2.085	0.48040	D	0.999577	P	0.49559	0.925	B	0.34301	0.179	T	0.28713	-1.0035	10	0.13108	T	0.6	.	16.2838	0.82709	0.0:0.1326:0.8674:0.0	.	58	O43692	PI15_HUMAN	Q	58	ENSP00000260113:R58Q;ENSP00000428567:R58Q	ENSP00000260113:R58Q	R	+	2	0	PI15	75900212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.032000	0.64140	1.585000	0.49928	0.655000	0.94253	CGG	G|0.997;A|0.003	0.003	strong		0.448	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		A	75737657	G	A	75737657	3	1	16	1	0	0	0	0	1	0	0	0	11868	1116	39	1	175	1	PI15	8	75737657	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5224686	75737657	70626365	143	4108										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77776035	77776035	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccagccgcaaaactccaacgAtgcttcagaaacaaaggaag	8	12	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:77776035A>T	ENST00000521891.2	+	11	10533	c.10085A>T	c.(10084-10086)gAt>gTt	p.D3362V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3336V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3317V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3313V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3313					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)			AACTCCAACGATGCTTCAGAA	0.433										HNSCC(33;0.089)																											p.D3362V		Atlas-SNP	.											.	ZFHX4	878	.	0			c.A10085T						PASS	.						21	21	21					8																	77776035		1851	3991	5842	SO:0001583	missense	79776	exon11			CCAACGATGCTTC		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.10085A>T	8.37:g.77776035A>T	ENSP00000430497:p.Asp3362Val	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	48	8	0.166667	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	2.721	-0.266537	0.05754	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54479	0.57;0.62;0.61;0.58	4.5	4.5	0.54988	.	0.932477	0.08819	U	0.889077	T	0.39989	0.1099	N	0.11560	0.145	0.48762	D	0.999701	B	0.20459	0.045	B	0.25614	0.062	T	0.17745	-1.0359	10	0.72032	D	0.01	.	13.9762	0.64275	1.0:0.0:0.0:0.0	.	3317	Q86UP3-4	.	V	3362;3346;3317;3313;3336	ENSP00000430497:D3362V;ENSP00000399605:D3317V;ENSP00000050961:D3313V;ENSP00000430848:D3336V	ENSP00000050961:D3313V	D	+	2	0	ZFHX4	77938590	1.000000	0.71417	0.644000	0.29465	0.313000	0.28021	7.047000	0.76599	1.907000	0.55213	0.496000	0.49642	GAT	.	.	none		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77776035	A	T	77776035	3	4	16	1	0	0	0	0	1	0	0	0	17632	333	12	5	10123	5	ZFHX4	8	77776035	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	2038378	77776035	68587987	144	4109										
RALYL	138046	hgsc.bcm.edu	37	chr8	85774611	85774611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcccagagtggcagtcacaaCgactcgcagggggaaaggag	15	10	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:85774611C>T	ENST00000521268.1	+	6	1599	c.494C>T	c.(493-495)aCg>aTg	p.T165M	RALYL_ENST00000521695.1_Missense_Mutation_p.T165M|RALYL_ENST00000521376.1_Missense_Mutation_p.T76M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	165							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGTCACAACGACTCGCAGG	0.483																																					p.T178M		Atlas-SNP	.											.	RALYL	123	.	0			c.C533T						PASS	.						56	61	59					8																	85774611		1929	4136	6065	SO:0001583	missense	138046	exon6			TCACAACGACTCG		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.494C>T	8.37:g.85774611C>T	ENSP00000430367:p.Thr165Met	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	53	13	0.245283	NM_001100391	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526572	0.64860	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.18657	2.83;2.83;2.83;2.85;2.83;2.42;2.2	5.1	5.1	0.69264	.	0.214143	0.49305	D	0.000143	T	0.35941	0.0949	M	0.61703	1.905	0.09310	N	1	P;D;P;P;D	0.60160	0.791;0.987;0.939;0.93;0.987	B;P;B;P;P	0.51016	0.336;0.588;0.337;0.656;0.588	T	0.19192	-1.0313	10	0.62326	D	0.03	-3.4988	18.8851	0.92375	0.0:1.0:0.0:0.0	.	154;165;92;178;165	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	M	165;165;165;154;178;92;76	ENSP00000430394:T165M;ENSP00000428667:T165M;ENSP00000430367:T165M;ENSP00000430065:T154M;ENSP00000430128:T178M;ENSP00000428807:T92M;ENSP00000428310:T76M	ENSP00000430128:T178M	T	+	2	0	RALYL	85937166	0.679000	0.27596	0.011000	0.14972	0.798000	0.45092	5.613000	0.67688	2.511000	0.84671	0.551000	0.68910	ACG	.	.	none		0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			T	85774611	C	T	85774611	3	4	16	1	0	0	0	0	1	0	0	0	13020	536	19	1	555	1	RALYL	8	85774611	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7998576	85774611	60589411	145	4110										
KLF10	7071	hgsc.bcm.edu	37	chr8	103664424	103664424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgtatgaaaatcaggtgttcCcggaagcagattctcttcct	9	9	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:103664424C>T	ENST00000285407.6	-	2	538	c.238G>A	c.(238-240)Gga>Aga	p.G80R	KLF10_ENST00000395884.3_Missense_Mutation_p.G69R	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	80					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TCAGGTGTTCCCGGAAGCAGA	0.318											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G80R	Esophageal Squamous(16;495 519 2144 16528 44005)	Atlas-SNP	.											KLF10,NS,carcinoma,+2,1	KLF10	44	1	0			c.G238A						scavenged	.						70	69	69					8																	103664424		2203	4300	6503	SO:0001583	missense	7071	exon2			GTGTTCCCGGAAG	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.238G>A	8.37:g.103664424C>T	ENSP00000285407:p.Gly80Arg	Somatic	78	0	0	1375	WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_005655	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184656	0.21870	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.12672	2.66;2.72	6.01	3.28	0.37604	.	0.357499	0.30219	N	0.010133	T	0.14657	0.0354	L	0.57536	1.79	0.09310	N	1	P;P	0.47191	0.891;0.693	B;B	0.43251	0.413;0.413	T	0.11767	-1.0574	10	0.51188	T	0.08	.	6.5283	0.22312	0.0:0.5695:0.2319:0.1986	.	80;69	Q13118;O75411	KLF10_HUMAN;.	R	80;69	ENSP00000285407:G80R;ENSP00000379222:G69R	ENSP00000285407:G80R	G	-	1	0	KLF10	103733600	0.095000	0.21747	0.056000	0.19401	0.547000	0.35210	1.392000	0.34486	0.442000	0.26555	0.650000	0.86243	GGA	.	.	none		0.318	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			T	103664424	C	T	103664424	3	4	16	1	0	0	0	0	1	0	0	0	8338	632	22	2	1216	2	KLF10	8	103664424	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	17889813	103664424	42699598	146	4111										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113316986	113316986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttcatttctccaactccaagTaccattaggaagacattcga	5	11	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:113316986T>C	ENST00000297405.5	-	52	8474	c.8230A>G	c.(8230-8232)Act>Gct	p.T2744A	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2704A|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2674A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2744	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAACTCCAAGTACCATTAGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T2744A		Atlas-SNP	.											CSMD3_ENST00000343508,right_lower_lobe,carcinoma,+2,2	CSMD3	2325	2	0			c.A8230G						scavenged	.						136	121	126					8																	113316986		2203	4300	6503	SO:0001583	missense	114788	exon52			TCCAAGTACCATT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8230A>G	8.37:g.113316986T>C	ENSP00000297405:p.Thr2744Ala	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	6.669	0.492049	0.12702	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.04	3.88	0.44766	Complement control module (2);Sushi/SCR/CCP (3);	0.314601	0.27896	N	0.017405	T	0.62109	0.2401	L	0.37507	1.11	0.43947	D	0.996614	B;P	0.49559	0.008;0.925	B;P	0.56042	0.034;0.79	T	0.55547	-0.8124	10	0.23891	T	0.37	.	10.8162	0.46578	0.0:0.0748:0.0:0.9252	.	2744;2704	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	A	2704;2744;2014;2674	ENSP00000345799:T2704A;ENSP00000297405:T2744A;ENSP00000341558:T2014A;ENSP00000343124:T2674A	ENSP00000297405:T2744A	T	-	1	0	CSMD3	113386162	0.999000	0.42202	0.998000	0.56505	0.352000	0.29268	2.639000	0.46570	0.849000	0.35215	-0.250000	0.11733	ACT	.	.	none		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113316986	T	C	113316986	3	2	16	1	0	0	0	0	1	0	0	0	3946	1638	57	2	2973	2	CSMD3	8	113316986	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	9652562	113316986	33047036	147	4112										
ZNF572	137209	hgsc.bcm.edu	37	chr8	125989722	125989722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	catctcattagacatcagagAacacatacaggagaaaaacc	6	10	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:125989722A>G	ENST00000319286.5	+	3	1366	c.1212A>G	c.(1210-1212)agA>agG	p.R404R		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	404					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)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GACATCAGAGAACACATACAG	0.423										HNSCC(60;0.17)																											p.R404R		Atlas-SNP	.											ZNF572,colon,carcinoma,+1,1	ZNF572	82	1	0			c.A1212G						PASS	.						83	80	81					8																	125989722		2203	4300	6503	SO:0001819	synonymous_variant	137209	exon3			TCAGAGAACACAT	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1212A>G	8.37:g.125989722A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_152412	A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																			.	.	none		0.423	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		G	125989722	A	G	125989722	2	3	16	1	0	0	0	0	0	0	0	1	18001	243	9	2		2	ZNF572	8	125989722	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	12672736	125989722	20374300	148	4113										
ZFAT	57623	hgsc.bcm.edu	37	chr8	135613905	135613905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccccaccaccagctactggaGggaggaggtctgaggcctca	13	14	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr8:135613905G>A	ENST00000377838.3	-	6	2231	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	ZFAT_ENST00000520356.1_Missense_Mutation_p.P674L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P674L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Missense_Mutation_p.P674L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P624L|ZFAT_ENST00000520727.1_Missense_Mutation_p.P674L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	686					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTACTGGAGGGAGGAGGTC	0.597																																					p.P686L		Atlas-SNP	.											.	ZFAT	265	.	0			c.C2057T						PASS	.						68	73	72					8																	135613905		2041	4199	6240	SO:0001583	missense	57623	exon6			ACTGGAGGGAGGA	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2057C>T	8.37:g.135613905G>A	ENSP00000367069:p.Pro686Leu	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235411	0.22626	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09911	3.0;2.93;2.93;2.93;2.93;2.96	5.0	4.12	0.48240	.	0.066393	0.64402	D	0.000013	T	0.07683	0.0193	L	0.27053	0.805	0.09310	N	0.999997	B;B;B;B	0.25272	0.016;0.004;0.122;0.001	B;B;B;B	0.28305	0.009;0.004;0.088;0.002	T	0.33445	-0.9868	10	0.24483	T	0.36	-8.8579	8.1168	0.30948	0.2492:0.0:0.7508:0.0	.	624;674;674;686	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	674;674;674;686;674;573;624;674	ENSP00000427879:P674L;ENSP00000427831:P674L;ENSP00000394501:P674L;ENSP00000367069:P686L;ENSP00000428483:P674L;ENSP00000429091:P624L	ENSP00000326997:P573L	P	-	2	0	ZFAT	135683087	0.003000	0.15002	0.039000	0.18376	0.809000	0.45718	1.438000	0.35002	1.327000	0.45338	0.561000	0.74099	CCT	.	.	none		0.597	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135613905	G	A	135613905	3	1	16	1	0	0	0	0	1	0	0	0	17629	1000	35	2	1718	2	ZFAT	8	135613905	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	9624183	135613905	10750117	149	4114										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	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)		gcagcagcaacagcagcagcagc	0.635																																					p.222_223del		Pindel	.											SMARCA2_ENST00000349721,NS,carcinoma,0,2	SMARCA2	313	2	0			c.666_668del						PASS	.																																			SO:0001651	inframe_deletion	6595	exon4			.	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.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del	Somatic	64	.	.		WXS	Illumina HiSeq	Phase_I	102	26	0.255	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	CCDS34977.1																																																																																			.	.	weak		0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		-	2039779	CAG	-	2039777	7	5	16	1	0	1	0	1	0	0	0	0	14769	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-FF-8062-01A-11D-2210-10		2039777	139173654	150	4115										
IFNA4	3441	hgsc.bcm.edu	37	chr9	21187146	21187146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	catcaggggagtctcttccaCcccaacctcctgtatcacac	6	17	3	0	rs201186279		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:21187146C>T	ENST00000421715.1	-	1	452	c.385G>A	c.(385-387)Gtg>Atg	p.V129M		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V129M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTCTCTTCCACCCCAACCTCC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.0				p.V129M	NSCLC(154;890 1986 23660 27800 51138)	Atlas-SNP	.											IFNA4,NS,carcinoma,0,1	IFNA4	34	1	1	Substitution - Missense(1)	endometrium(1)	c.G385A						scavenged	.						35	38	37					9																	21187146		2182	4253	6435	SO:0001583	missense	3441	exon1			CTTCCACCCCAAC		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.385G>A	9.37:g.21187146C>T	ENSP00000412897:p.Val129Met	Somatic	402	4	0.00995025		WXS	Illumina HiSeq	Phase_I	487	7	0.0143737	NM_021068	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	4.271	0.049496	0.08243	.	.	ENSG00000236637	ENST00000421715	T	0.03441	3.93	2.96	-5.93	0.02254	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.507550	0.03550	N	0.225260	T	0.05593	0.0147	M	0.73319	2.225	0.09310	N	1	B	0.18741	0.03	B	0.28305	0.088	T	0.38351	-0.9665	10	0.52906	T	0.07	.	1.8132	0.03095	0.1267:0.2025:0.3717:0.2991	.	129	P05014	IFNA4_HUMAN	M	129	ENSP00000412897:V129M	ENSP00000412897:V129M	V	-	1	0	IFNA4	21177146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.851000	0.01669	-1.988000	0.00980	-1.417000	0.01113	GTG	.	.	weak		0.458	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		T	21187146	C	T	21187146	3	4	16	1	0	0	0	0	1	0	0	0	7539	507	18	2	188	2	IFNA4	9	21187146	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	19147369	21187146	120026285	151	4116										
KIF24	347240	hgsc.bcm.edu	37	chr9	34311190	34311190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgataagttggaagagacgtTtgcggtcgttcatgtcatgg	14	5	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:34311190T>C	ENST00000402558.2	-	1	179	c.155A>G	c.(154-156)aAa>aGa	p.K52R	KIF24_ENST00000379166.2_Missense_Mutation_p.K52R|KIF24_ENST00000379174.3_Missense_Mutation_p.K52R|KIF24_ENST00000345050.2_Missense_Mutation_p.K52R			Q5T7B8	KIF24_HUMAN	kinesin family member 24	52	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAAGAGACGTTTGCGGTCGTT	0.413																																					p.K52R		Atlas-SNP	.											KIF24,NS,carcinoma,+1,2	KIF24	64	2	0			c.A155G						scavenged	.						108	98	101					9																	34311190		1880	4115	5995	SO:0001583	missense	347240	exon2			AGACGTTTGCGGT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.155A>G	9.37:g.34311190T>C	ENSP00000384433:p.Lys52Arg	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	174	2	0.0114943	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106809	0.37145	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.48	4.35	0.52113	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.42821	D	0.000652	T	0.51109	0.1655	N	0.17082	0.46	0.29168	N	0.877346	D;D	0.57899	0.976;0.981	P;P	0.57101	0.629;0.813	T	0.43360	-0.9396	10	0.21014	T	0.42	.	10.7788	0.46365	0.0:0.0741:0.0:0.9259	.	52;52	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	R	52	ENSP00000384433:K52R;ENSP00000368472:K52R;ENSP00000368464:K52R;ENSP00000340179:K52R	ENSP00000340179:K52R	K	-	2	0	KIF24	34301190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.920000	0.56446	2.089000	0.63090	0.528000	0.53228	AAA	.	.	none		0.413	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			C	34311190	T	C	34311190	3	2	16	1	0	0	0	0	1	0	0	0	8292	1841	64	2	3999	2	KIF24	9	34311190	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	13124044	34311190	106902241	152	4117										
GBA2	57704	hgsc.bcm.edu	37	chr9	35739047	35739047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttcctccttttcacaggtgCcatcaccccactcatcaggt	6	16	4	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:35739047C>T	ENST00000378103.3	-	11	2270	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	GBA2_ENST00000545786.1_Missense_Mutation_p.A589T|GBA2_ENST00000378094.4_Missense_Mutation_p.A583T|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	583					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.A583S(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACAGGTGCCATCACCCCA	0.582																																					p.A583T		Atlas-SNP	.											GBA2,colon,carcinoma,0,1	GBA2	77	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1747A						scavenged	.						82	77	79					9																	35739047		2203	4300	6503	SO:0001583	missense	57704	exon11			CAGGTGCCATCAC	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1747G>A	9.37:g.35739047C>T	ENSP00000367343:p.Ala583Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	148	2	0.0135135	NM_020944	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454524	0.63290	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.69	5.69	0.88448	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.207432	0.51477	D	0.000088	T	0.70596	0.3242	M	0.74881	2.28	0.58432	D	0.999998	P;P;P	0.39326	0.668;0.51;0.477	B;B;P	0.44477	0.434;0.154;0.451	T	0.69053	-0.5247	9	0.36615	T	0.2	-3.5453	19.8052	0.96529	0.0:1.0:0.0:0.0	.	589;583;583	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	T	583;583;589	.	ENSP00000367334:A583T	A	-	1	0	GBA2	35729047	1.000000	0.71417	0.778000	0.31720	0.932000	0.56968	4.664000	0.61540	2.688000	0.91661	0.561000	0.74099	GCA	.	.	none		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35739047	C	T	35739047	3	4	16	1	0	0	0	0	1	0	0	0	6267	739	26	2	1064	2	GBA2	9	35739047	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1427857	35739047	105474384	153	4118										
MSMP	692094	hgsc.bcm.edu	37	chr9	35753722	35753722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aaacagtccttgcggagccaAgactcacccagggtaaaata	9	11	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:35753722A>G	ENST00000436428.2	-	2	313	c.174T>C	c.(172-174)tcT>tcC	p.S58S	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR|RP11-112J3.15_ENST00000425499.2_RNA	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	58						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						TGCGGAGCCAAGACTCACCCA	0.527																																					p.S58S		Atlas-SNP	.											.	MSMP	15	.	0			c.T174C						PASS	.						44	46	45					9																	35753722		2045	4202	6247	SO:0001819	synonymous_variant	692094	exon2			GAGCCAAGACTCA	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.174T>C	9.37:g.35753722A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	133	34	0.255639	NM_001044264		Silent	SNP	ENST00000436428.2	37	CCDS43797.1																																																																																			.	.	none		0.527	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		G	35753722	A	G	35753722	2	3	16	1	0	0	0	0	0	0	0	1	9884	59	3	3		3	MSMP	9	35753722	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	14675	35753722	105459709	154	4119										
ASPN	54829	hgsc.bcm.edu	37	chr9	95237027	95237027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggaaaaagagagttgtcctcAtcatcatcatcatcatcatc	6	10	7	1	rs200538582|rs397840756|rs557103556|rs3078372|rs397838876		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:95237027A>C	ENST00000375544.3	-	2	396	c.153T>G	c.(151-153)gaT>gaG	p.D51E	ASPN_ENST00000395538.3_Missense_Mutation_p.D51E|ASPN_ENST00000450139.2_Missense_Mutation_p.D23E|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.D51E	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	51	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGTTGTCCtcatcatcatcat	0.398																																					p.D51E		Atlas-SNP	.											ASPN,caecum,carcinoma,0,1	ASPN	52	1	0			c.T153G						scavenged	.						109	92	98					9																	95237027		2203	4300	6503	SO:0001583	missense	54829	exon2			GTCCTCATCATCA	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.153T>G	9.37:g.95237027A>C	ENSP00000364694:p.Asp51Glu	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	65	5	0.0769231	NM_001193335	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	G	0.561	-0.845374	0.02671	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.54675	0.62;0.56;0.56	4.66	-6.14	0.02111	.	0.405245	0.21419	N	0.074846	T	0.34221	0.0890	L	0.49350	1.555	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.44097	-0.9350	10	0.06891	T	0.86	.	9.9603	0.41693	0.5846:0.1655:0.2499:0.0	.	51;51	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	E	51;51;51;23	ENSP00000364694:D51E;ENSP00000364693:D51E;ENSP00000378909:D51E	ENSP00000364693:D51E	D	-	3	2	ASPN	94276848	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.517000	0.00954	-2.861000	0.00327	-3.764000	0.00021	GAT	.	.	weak		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		C	95237027	A	C	95237027	3	2	16	1	0	0	0	0	1	0	0	0	1057	214	8	5	1017	5	ASPN	9	95237027	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	59483305	95237027	45976404	155	4120										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101765754	101765754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaatttagcagcaacagcagCggggctggccgaggtgccca	15	11	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:101765754C>T	ENST00000375001.3	+	8	1508	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	362	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.A362V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCAACAGCAGCGGGGCTGGCC	0.582																																					p.A362V		Atlas-SNP	.											COL15A1,colon,carcinoma,0,1	COL15A1	211	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1085T						scavenged	.						77	82	80					9																	101765754		2203	4300	6503	SO:0001583	missense	1306	exon8			CAGCAGCGGGGCT	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1085C>T	9.37:g.101765754C>T	ENSP00000364140:p.Ala362Val	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	278	4	0.0143885	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017883	0.07681	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90900	-2.75	3.57	1.63	0.23807	.	3.066200	0.00843	N	0.001768	D	0.82637	0.5080	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68345	-0.5433	10	0.25106	T	0.35	-0.7227	6.7373	0.23417	0.1731:0.7209:0.0:0.1059	.	362	P39059	COFA1_HUMAN	V	362;332	ENSP00000364140:A362V	ENSP00000364140:A362V	A	+	2	0	COL15A1	100805575	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.889000	0.28282	0.121000	0.18284	-1.134000	0.01955	GCG	.	.	none		0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101765754	C	T	101765754	3	4	16	1	0	0	0	0	1	0	0	0	3672	768	27	1	1115	1	COL15A1	9	101765754	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6528727	101765754	39447677	156	4121										
OR13C2	392376	hgsc.bcm.edu	37	chr9	107367665	107367666	+	Frame_Shift_Del	DEL	GC	GC	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttctgaaaggaagctcactaGcgtggagggaatagaggtgg					rs377668801|rs143760725|rs144815315|rs140970710	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:107367665_107367666delGC	ENST00000542196.1	-	1	285_286	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGCTCACTAGCGTGGAGGGAA	0.515														1574	0.314297	0.4138	0.2003	5008	,	,		20880	0.4097		0.16	False		,,,				2504	0.3211				p.82_82del		Pindel	.											.	OR13C2	46	.	0			c.244_245del						PASS	.			2387,1861		730,927,467						2.2	0		dbSNP_134	35	1565,6681		171,1223,2729	no	frameshift	OR13C2	NM_001004481.1		901,2150,3196	A1A1,A1R,RR		18.9789,43.8089,31.6312				3952,8542				SO:0001589	frameshift_variant	392376	exon1			.		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.243_244delGC	9.37:g.107367665_107367666delGC	ENSP00000438815:p.Leu82fs	Somatic	396	.	.		WXS	Illumina HiSeq	Phase_I	447	89	0.199	NM_001004481	B9EGV8|Q6IF54	Frame_Shift_Del	DEL	ENST00000542196.1	37	CCDS35092.1																																																																																			.	.	strong		0.515	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		-	107367666	GC	-	107367665	7	5	16	1	0	1	0	1	0	0	0	0	10934	962	34	0	715	0	OR13C2	9	107367665	Frame_Shift_Del	DEL	GC	TCGA-FF-8062-01A-11D-2210-10	5601911	107367665	33845766	157	4122										
MUSK	4593	hgsc.bcm.edu	37	chr9	113496632	113496632	+	Frame_Shift_Del	DEL	A	A	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcattcctgtccccaccatcAcctggattgaaaacggaaat							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:113496632delA	ENST00000374448.4	+	6	864	c.730delA	c.(730-732)accfs	p.T244fs	MUSK_ENST00000416899.2_Frame_Shift_Del_p.T244fs|MUSK_ENST00000189978.5_Frame_Shift_Del_p.T244fs	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	244	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCCCACCATCACCTGGATTGA	0.507																																					p.I253fs		Pindel,Atlas-Indel	.											.	MUSK	112	.	0			c.759delC						PASS	.						140	128	132					9																	113496632		2052	4215	6267	SO:0001589	frameshift_variant	4593	exon7			.	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.730delA	9.37:g.113496632delA	ENSP00000363571:p.Thr244fs	Somatic	98	.	.		WXS	Illumina HiSeq	Phase_I	105	17	0.162	NM_001166280	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Frame_Shift_Del	DEL	ENST00000374448.4	37	CCDS48005.1																																																																																			.	.	none		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	113496632	A	-	113496632	7	5	16	1	0	1	0	1	0	0	0	0	9989	159	6	0	786	0	MUSK	9	113496632	Frame_Shift_Del	DEL	A	TCGA-FF-8062-01A-11D-2210-10	6128967	113496632	27716799	158	4123										
BAT2L1	84726	hgsc.bcm.edu	37	chr9	134322483	134322483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgtttcagatgtgttcgccGaagtcatcagaaaaccaggg	11	8	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:134322483G>A	ENST00000357304.4	+	7	922	c.867G>A	c.(865-867)ccG>ccA	p.P289P	PRRC2B_ENST00000405995.1_Silent_p.P289P|PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Silent_p.P289P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	289							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGTGTTCGCCGAAGTCATCAG	0.428																																					p.P289P		Atlas-SNP	.											.	PRRC2B	266	.	0			c.G867A						PASS	.						108	103	105					9																	134322483		1937	4141	6078	SO:0001819	synonymous_variant	84726	exon7			TTCGCCGAAGTCA	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.867G>A	9.37:g.134322483G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	146	25	0.171233	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																			.	.	none		0.428	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134322483	G	A	134322483	2	1	16	1	0	0	0	0	0	0	0	1	1320	1045	37	1		1	BAT2L1	9	134322483	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	20825851	134322483	6890948	159	4124										
NTNG2	84628	hgsc.bcm.edu	37	chr9	135042392	135042392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgaaggtggagccctcaggCatcacatgtggagacccccc	13	13	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr9:135042392C>T	ENST00000393229.3	+	2	950	c.174C>T	c.(172-174)ggC>ggT	p.G58G	NTNG2_ENST00000393228.4_Silent_p.G58G|NTNG2_ENST00000360670.3_Silent_p.G58G|NTNG2_ENST00000372179.3_Silent_p.G58G	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	58	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGCCCTCAGGCATCACATGTG	0.587																																					p.G58G		Atlas-SNP	.											NTNG2,colon,carcinoma,+2,1	NTNG2	66	1	0			c.C174T						scavenged	.						112	116	115					9																	135042392		2203	4300	6503	SO:0001819	synonymous_variant	84628	exon2			CTCAGGCATCACA	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.174C>T	9.37:g.135042392C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	161	3	0.0186335	NM_032536	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																			.	.	none		0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		T	135042392	C	T	135042392	2	4	16	1	0	0	0	0	0	0	0	1	10705	697	25	2		2	NTNG2	9	135042392	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	719909	135042392	6171039	160	4125										
ARHGAP22	58504	hgsc.bcm.edu	37	chr10	49654625	49654625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cagttcttcttctaaccgggAcattcgttttctcaggtcag	8	11	5	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr10:49654625A>G	ENST00000249601.4	-	10	2202	c.1906T>C	c.(1906-1908)Tcc>Ccc	p.S636P	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S546P|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S642P|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.S469P|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.S477P|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S527P|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S652P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	636					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTAACCGGGACATTCGTTTT	0.502																																					p.S652P		Atlas-SNP	.											.	ARHGAP22	94	.	0			c.T1954C						PASS	.						126	115	118					10																	49654625		2203	4300	6503	SO:0001583	missense	58504	exon10			ACCGGGACATTCG	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1906T>C	10.37:g.49654625A>G	ENSP00000249601:p.Ser636Pro	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	231	55	0.238095	NM_001256024	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482037	0.26598	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.42	0.456	0.16655	.	0.502966	0.20316	N	0.094726	T	0.49881	0.1583	L	0.51422	1.61	0.09310	N	0.999995	B;P;P;P;P;D	0.64830	0.337;0.475;0.744;0.475;0.744;0.994	B;B;B;B;B;P	0.59703	0.063;0.099;0.26;0.099;0.134;0.862	T	0.45877	-0.9231	10	0.44086	T	0.13	.	12.1264	0.53919	0.4414:0.5586:0.0:0.0	.	642;636;652;636;546;469	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	P	636;527;477;469;546;642;652	ENSP00000249601:S636P;ENSP00000363287:S527P;ENSP00000363285:S477P;ENSP00000422868:S469P;ENSP00000410054:S546P;ENSP00000416701:S642P;ENSP00000412461:S652P	ENSP00000249601:S636P	S	-	1	0	ARHGAP22	49324631	0.002000	0.14202	0.014000	0.15608	0.008000	0.06430	-0.001000	0.12947	0.080000	0.16959	0.459000	0.35465	TCC	.	.	none		0.502	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		G	49654625	A	G	49654625	3	3	16	1	0	0	0	0	1	0	0	0	872	275	10	2	194	2	ARHGAP22	10	49654625	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10		49654625	85880122	161	4126										
C10orf76	79591	hgsc.bcm.edu	37	chr10	103771512	103771512	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	7	9	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr10:103771512G>A	ENST00000370033.4	-	11	918	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																					p.Q267X		Atlas-SNP	.											C10orf76,NS,carcinoma,0,2	C10orf76	48	2	1	Substitution - Missense(1)	endometrium(1)	c.C799T						scavenged	.						125	124	124					10																	103771512		1823	4079	5902	SO:0001587	stop_gained	79591	exon11			CACTTTGGTGTTC	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>T	10.37:g.103771512G>A	ENSP00000359050:p.Gln267*	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	181	3	0.0165746	NM_024541	Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	37	6.526959	0.97637	.	.	ENSG00000120029	ENST00000370033	.	.	.	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000359050:Q267X	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	.	.	none		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		A	103771512	G	A	103771512	4	1	16	1	0	0	0	0	0	1	0	0	1616	1357	47	2	1334	2	C10orf76	10	103771512	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	54116887	103771512	31763235	162	4127										
FAM175B	23172	hgsc.bcm.edu	37	chr10	126508012	126508012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggacaggattcttaaagatcGgagaaaggtatgttctgttt	12	4	2	2	rs377610141		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr10:126508012G>A	ENST00000298492.5	+	4	305	c.260G>A	c.(259-261)cGg>cAg	p.R87Q		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	87	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						CTTAAAGATCGGAGAAAGGTA	0.353																																					p.R87Q		Atlas-SNP	.											FAM175B_ENST00000298492,NS,carcinoma,+1,1	FAM175B	39	1	0			c.G260A						scavenged	.	G	GLN/ARG	0,3704		0,0,1852	205	192	196		260	5.1	1	10		196	1,8197		0,1,4098	no	missense	FAM175B	NM_032182.3	43	0,1,5950	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	87/416	126508012	1,11901	1852	4099	5951	SO:0001583	missense	23172	exon4			AAGATCGGAGAAA	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.260G>A	10.37:g.126508012G>A	ENSP00000298492:p.Arg87Gln	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	130	4	0.0307692	NM_032182	B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812787	0.70912	0.0	1.22E-4	ENSG00000165660	ENST00000298492	T	0.41400	1.0	6.04	5.14	0.70334	.	0.072630	0.56097	D	0.000025	T	0.38268	0.1034	L	0.52364	1.645	0.52501	D	0.999955	D	0.56521	0.976	B	0.42422	0.387	T	0.17715	-1.0360	10	0.18710	T	0.47	-4.5542	15.0721	0.72046	0.0673:0.0:0.9327:0.0	.	87	Q15018	F175B_HUMAN	Q	87	ENSP00000298492:R87Q	ENSP00000298492:R87Q	R	+	2	0	FAM175B	126498002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.201000	0.72124	1.571000	0.49722	0.561000	0.74099	CGG	.	.	none		0.353	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		A	126508012	G	A	126508012	3	1	16	1	0	0	0	0	1	0	0	0	5498	1116	39	1	274	1	FAM175B	10	126508012	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	22736500	126508012	9026735	163	4128										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906293	129906293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atctgctttcctgatacttcTcttgggtcgttgctttgtgc	9	10	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr10:129906293T>C	ENST00000368654.3	-	13	4186	c.3811A>G	c.(3811-3813)Aga>Gga	p.R1271G	MKI67_ENST00000368653.3_Missense_Mutation_p.R911G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1271	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGATACTTCTCTTGGGTCGT	0.502																																					p.R1271G		Atlas-SNP	.											MKI67,NS,carcinoma,+1,1	MKI67	363	1	0			c.A3811G						scavenged	.						220	212	215					10																	129906293		2203	4300	6503	SO:0001583	missense	4288	exon13			TACTTCTCTTGGG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3811A>G	10.37:g.129906293T>C	ENSP00000357643:p.Arg1271Gly	Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	274	4	0.0145985	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342549	0.24339	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02258	4.37;4.37	3.04	1.89	0.25635	.	0.366064	0.19808	N	0.105599	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	P;P;P	0.43542	0.612;0.612;0.81	B;B;P	0.45946	0.181;0.138;0.498	T	0.44711	-0.9310	10	0.24483	T	0.36	.	5.873	0.18814	0.0:0.2436:0.0:0.7564	.	1270;911;1271	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	1271;911;1270	ENSP00000357643:R1271G;ENSP00000357642:R911G	ENSP00000357642:R911G	R	-	1	2	MKI67	129796283	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.502000	0.22594	0.381000	0.24851	0.379000	0.24179	AGA	.	.	none		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129906293	T	C	129906293	3	2	16	1	0	0	0	0	1	0	0	0	9598	1559	54	3	5971	3	MKI67	10	129906293	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	3398281	129906293	5628454	164	4129										
RPLP2	6181	hgsc.bcm.edu	37	chr11	812762	812762	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctctcctctgttccacagcaGaggagaagaaagatgagaag	11	9	2	5			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:812762G>T	ENST00000321153.4	+	5	668	c.274G>T	c.(274-276)Gag>Tag	p.E92*	RPLP2_ENST00000530797.1_Nonsense_Mutation_p.E92*|SNORA52_ENST00000362915.1_RNA|RPLP2_ENST00000532004.1_3'UTR	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	92					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCACAGCAGAGGAGAAGAA	0.537																																					p.E92X		Atlas-SNP	.											RPLP2,NS,carcinoma,0,1	RPLP2	2	1	0			c.G274T						scavenged	.						118	110	113					11																	812762		2203	4299	6502	SO:0001587	stop_gained	6181	exon5			ACAGCAGAGGAGA	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"L ribosomal proteins"	10377	protein-coding gene	gene with protein product	"60S acidic ribosomal protein P2", "acidic ribosomal phosphoprotein P2"	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.274G>T	11.37:g.812762G>T	ENSP00000322419:p.Glu92*	Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	100	2	0.02	NM_001004	Q6FG96	Nonsense_Mutation	SNP	ENST00000321153.4	37	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.834249|6.834249	0.97873|0.97873	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.42|4.42	3.47|3.47	0.39725|0.39725	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67776	.|0.2929	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66705	.|-0.5856	.|4	0.21540|.	T|.	0.41|.	-28.7039|-28.7039	13.5703|13.5703	0.61843|0.61843	0.0:0.1571:0.8429:0.0|0.0:0.1571:0.8429:0.0	.|.	.|.	.|.	.|.	X|H	92|68	.|.	ENSP00000322419:E92X|.	E|Q	+|+	1|3	0|2	RPLP2|RPLP2	802762|802762	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.886000|0.886000	0.51366|0.51366	9.310000|9.310000	0.96267|0.96267	1.154000|1.154000	0.42482|0.42482	0.561000|0.561000	0.74099|0.74099	GAG|CAG	.	.	none		0.537	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	NM_001004		T	812762	G	T	812762	4	4	16	1	0	0	0	0	0	1	0	0	13606	943	33	4	288	4	RPLP2	11	812762	Nonsense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		812762	134193754	165	4130										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093245	1093245	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	actacggtgaccccaaccccAacacccaccggcacacagac	6	20	0	2	rs200003195		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:1093245A>T	ENST00000441003.2	+	30	5091	c.5064A>T	c.(5062-5064)ccA>ccT	p.P1688P	MUC2_ENST00000359061.5_Silent_p.P1655P|MUC2_ENST00000333592.6_5'Flank|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)	ccccaaccccaacacccaccg	0.632																																					p.P1688P		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.A5064T						scavenged	.						88	139	121					11																	1093245		1819	3301	5120	SO:0001819	synonymous_variant	4583	exon30			AACCCCAACACCC	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.5064A>T	11.37:g.1093245A>T		Somatic	53	5	0.0943396		WXS	Illumina HiSeq	Phase_I	42	8	0.190476	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.	.	weak		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093245	A	T	1093245	2	4	16	1	0	0	0	0	0	0	0	1	9975	117	5	5		5	MUC2	11	1093245	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	280483	1093245	133913271	166	4131										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1258241	1258241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cggtccgtggtgggggacgcActggagtttgggaacagctg	19	8	0	0	rs79773885		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:1258241A>G	ENST00000529681.1	+	25	3202	c.3144A>G	c.(3142-3144)gcA>gcG	p.A1048A	MUC5B_ENST00000447027.1_Silent_p.A1051A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGGACGCACTGGAGTTTG	0.672																																					p.A1048A		Atlas-SNP	.											MUC5B,NS,carcinoma,+2,2	MUC5B	473	2	0			c.A3144G						scavenged	.						39	55	50					11																	1258241		2117	4226	6343	SO:0001819	synonymous_variant	727897	exon25			GGACGCACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3144A>G	11.37:g.1258241A>G		Somatic	53	2	0.0377358		WXS	Illumina HiSeq	Phase_I	48	7	0.145833	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.500;G|0.500	0.500	weak		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1258241	A	G	1258241	2	3	16	1	0	0	0	0	0	0	0	1	9979	146	6	2		2	MUC5B	11	1258241	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	164996	1258241	133748275	167	4132										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1258274	1258274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aacagctggaagctctccccCtcctgcccggacgccctggc	10	19	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:1258274C>T	ENST00000529681.1	+	25	3235	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	MUC5B_ENST00000447027.1_Silent_p.P1062P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1059	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTCTCCCCCTCCTGCCCGG	0.657																																					p.P1059P		Atlas-SNP	.											.	MUC5B	473	.	0			c.C3177T						PASS	.						42	59	53					11																	1258274		2100	4204	6304	SO:0001819	synonymous_variant	727897	exon25			CTCCCCCTCCTGC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3177C>T	11.37:g.1258274C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	59	4	0.0677966	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	none		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1258274	C	T	1258274	2	4	16	1	0	0	0	0	0	0	0	1	9979	668	24	2		2	MUC5B	11	1258274	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	33	1258274	133748242	168	4133										
OR51A2	401667	hgsc.bcm.edu	37	chr11	4976656	4976656	+	Silent	SNP	A	A	G													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcctgggcaaagcaggcactAgaagaagtttcaggggcatt					rs3986370|rs386750080	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:4976656A>G	ENST00000380371.1	-	1	287	c.288T>C	c.(286-288)tcT>tcC	p.S96S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGCACTAGAAGAAGTTT	0.438													a|||	717	0.143171	0.0968	0.1931	5008	,	,		13868	0.2312		0.172	False		,,,				2504	0.0501				p.S96S		Atlas-SNP	.											OR51A2,NS,carcinoma,-1,1	OR51A2	40	1	0			c.T288C						scavenged	.						138	107	118					11																	4976656		1863	3321	5184	SO:0001819	synonymous_variant	401667	exon1			GGCACTAGAAGAA	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.288T>C	11.37:g.4976656A>G		Somatic	234	1	0.0042735		WXS	Illumina HiSeq	Phase_I	278	4	0.0143885	NM_001004748		Silent	SNP	ENST00000380371.1	37	CCDS31368.1																																																																																			.	.	weak		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		G	4976656	A	G	4976656	2	3	16	1	0	0	0	0	0	0	0	1	11086	407	15	3		3	OR51A2	11	4976656	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3718382	4976656	130029860	169	4134	73	2								
OR51A2	401667	hgsc.bcm.edu	37	chr11	4976659	4976659	+	Silent	SNP	A	A	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgggcaaagcaggcactagaAgaagtttcaggggcattgaa					rs3986369	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:4976659A>T	ENST00000380371.1	-	1	284	c.285T>A	c.(283-285)tcT>tcA	p.S95S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCACTAGAAGAAGTTTCAG	0.438													a|||	717	0.143171	0.0968	0.1931	5008	,	,		13905	0.2312		0.172	False		,,,				2504	0.0501				p.S95S		Atlas-SNP	.											OR51A2,NS,carcinoma,0,1	OR51A2	40	1	0			c.T285A						scavenged	.						137	106	117					11																	4976659		1865	3319	5184	SO:0001819	synonymous_variant	401667	exon1			ACTAGAAGAAGTT	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.285T>A	11.37:g.4976659A>T		Somatic	231	1	0.004329		WXS	Illumina HiSeq	Phase_I	276	4	0.0144928	NM_001004748		Silent	SNP	ENST00000380371.1	37	CCDS31368.1																																																																																			A|0.689;T|0.311	0.311	strong		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		T	4976659	A	T	4976659	2	4	16	1	0	0	0	0	0	0	0	1	11086	59	3	5		5	OR51A2	11	4976659	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3	4976659	130029857	170	4135	73	2								
CKAP5	9793	hgsc.bcm.edu	37	chr11	46831321	46831321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	catctccaccagcagactgtTgttgttccaatttagcttct	6	12	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:46831321T>A	ENST00000529230.1	-	6	780	c.734A>T	c.(733-735)cAa>cTa	p.Q245L	CKAP5_ENST00000415402.1_Missense_Mutation_p.Q245L|CKAP5_ENST00000354558.3_Missense_Mutation_p.Q245L|CKAP5_ENST00000312055.5_Missense_Mutation_p.Q245L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	245					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGCAGACTGTTGTTGTTCCAA	0.428																																					p.Q245L	Ovarian(4;85 273 2202 4844 13323)	Atlas-SNP	.											.	CKAP5	134	.	0			c.A734T						PASS	.						214	203	207					11																	46831321		2201	4299	6500	SO:0001583	missense	9793	exon6			GACTGTTGTTGTT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.734A>T	11.37:g.46831321T>A	ENSP00000432768:p.Gln245Leu	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	222	38	0.171171	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232689	0.79688	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.78	3.39	0.38822	Armadillo-like helical (1);Armadillo-type fold (1);	0.052954	0.85682	D	0.000000	T	0.49830	0.1580	L	0.46157	1.445	0.58432	D	0.999998	P;B;D	0.54772	0.908;0.062;0.968	D;B;P	0.64144	0.922;0.055;0.449	T	0.33111	-0.9881	10	0.31617	T	0.26	-16.6184	8.6638	0.34108	0.0:0.0672:0.1296:0.8032	.	245;245;245	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	245	ENSP00000432768:Q245L;ENSP00000395302:Q245L;ENSP00000310227:Q245L;ENSP00000346566:Q245L	ENSP00000310227:Q245L	Q	-	2	0	CKAP5	46787897	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	7.607000	0.82883	0.418000	0.25898	-0.297000	0.09499	CAA	.	.	none		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		A	46831321	T	A	46831321	3	1	16	1	0	0	0	0	1	0	0	0	3445	1812	63	5	5520	5	CKAP5	11	46831321	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	41854662	46831321	88175195	171	4136										
OR5W2	390148	hgsc.bcm.edu	37	chr11	55681542	55681542	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acagaagaaatgattaatctCattagacccacagaagcata	6	8	1	5			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:55681542C>A	ENST00000344514.1	-	1	516	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGATTAATCTCATTAGACCCA	0.418																																					p.E173X	Melanoma(48;171 1190 15239 43886 49348)	Atlas-SNP	.											OR5W2,colon,carcinoma,+2,1	OR5W2	112	1	0			c.G517T						PASS	.						84	77	79					11																	55681542		2201	4296	6497	SO:0001587	stop_gained	390148	exon1			TAATCTCATTAGA	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.517G>T	11.37:g.55681542C>A	ENSP00000342448:p.Glu173*	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	69	15	0.217391	NM_001001960		Nonsense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861330	0.71949	.	.	ENSG00000187612	ENST00000344514	.	.	.	5.0	4.09	0.47781	.	0.000000	0.40818	N	0.001006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.1192	0.48279	0.0:0.9092:0.0:0.0908	.	.	.	.	X	173	.	ENSP00000342448:E173X	E	-	1	0	OR5W2	55438118	0.000000	0.05858	0.625000	0.29200	0.981000	0.71138	-0.662000	0.05305	1.097000	0.41459	0.542000	0.68232	GAG	.	.	none		0.418	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		A	55681542	C	A	55681542	4	1	16	1	0	0	0	0	0	1	0	0	11185	835	29	4	417	4	OR5W2	11	55681542	Nonsense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	8850221	55681542	79324974	172	4137										
OR5AK2	390181	hgsc.bcm.edu	37	chr11	56756917	56756917	+	Frame_Shift_Del	DEL	T	T	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agtccaatagcatcaatcacTttttctgtgatgttccccct							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:56756917delT	ENST00000326855.2	+	1	571	c.529delT	c.(529-531)tttfs	p.F178fs		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CATCAATCACTTTTTCTGTGA	0.398																																					p.H176fs		Atlas-Indel	.											.	OR5AK2	45	.	0			c.528delC						PASS	.						346	311	323					11																	56756917		2201	4296	6497	SO:0001589	frameshift_variant	390181	exon1			.	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.529delT	11.37:g.56756917delT	ENSP00000322784:p.Phe178fs	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	294	47	0.159864	NM_001005323	B2RNZ9	Frame_Shift_Del	DEL	ENST00000326855.2	37	CCDS31538.1																																																																																			.	.	none		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		-	56756917	T	-	56756917	7	5	16	1	0	1	0	1	0	0	0	0	11142	1609	56	0	531	0	OR5AK2	11	56756917	Frame_Shift_Del	DEL	T	TCGA-FF-8062-01A-11D-2210-10	1075375	56756917	78249599	173	4138										
FAM111B	374393	hgsc.bcm.edu	37	chr11	58891900	58891900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcgagagtatctactcagcCctgagtgctaatgactattt	9	9	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:58891900C>T	ENST00000343597.3	+	4	521	c.330C>T	c.(328-330)gcC>gcT	p.A110A	FAM111B_ENST00000529618.1_Silent_p.A80A|FAM111B_ENST00000411426.1_Silent_p.A80A	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	110							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						TCTACTCAGCCCTGAGTGCTA	0.338																																					p.A110A		Atlas-SNP	.											FAM111B,colon,carcinoma,+2,1	FAM111B	84	1	0			c.C330T						scavenged	.						80	77	78					11																	58891900		2201	4295	6496	SO:0001819	synonymous_variant	374393	exon4			CTCAGCCCTGAGT	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.330C>T	11.37:g.58891900C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_198947	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																			.	.	none		0.338	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		T	58891900	C	T	58891900	2	4	16	1	0	0	0	0	0	0	0	1	5400	610	22	2		2	FAM111B	11	58891900	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2134983	58891900	76114616	174	4139										
FAU	740	hgsc.bcm.edu	37	chr11	64889279	64889279	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctcctgggcgcggacaaagaGctgcatattggcgactgagt	14	10	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:64889279G>C	ENST00000279242.2	+	0	0				FAU_ENST00000279259.3_Missense_Mutation_p.L3V|FAU_ENST00000527548.1_Missense_Mutation_p.L3V|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529259.1_Missense_Mutation_p.L3V|FAU_ENST00000531743.1_Missense_Mutation_p.L3V|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000434372.2_Missense_Mutation_p.L3V|FAU_ENST00000529639.1_Missense_Mutation_p.L3V|FAU_ENST00000525297.1_Missense_Mutation_p.L3V|MRPL49_ENST00000526171.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CGGACAAAGAGCTGCATATTG	0.537																																					p.L3V		Atlas-SNP	.											FAU,NS,carcinoma,+2,1	FAU	17	1	0			c.C7G						PASS	.						67	61	63					11																	64889279		2201	4297	6498	SO:0001631	upstream_gene_variant	2197	exon2			CAAAGAGCTGCAT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889279G>C	Exception_encountered	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	87	22	0.252874	NM_001997	B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409753	0.83340	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.60548	1.11;1.11;0.18;1.11;1.11;1.11;1.11;1.11	5.92	4.99	0.66335	Ubiquitin supergroup (1);Ubiquitin (1);	0.058047	0.64402	N	0.000001	T	0.57607	0.2065	M	0.71920	2.185	0.80722	D	1	P;P	0.41393	0.461;0.748	B;B	0.37480	0.181;0.251	T	0.64647	-0.6358	10	0.72032	D	0.01	-4.6526	14.7826	0.69776	0.0:0.145:0.8549:0.0	.	3;3	E9PMS9;P35544	.;UBIM_HUMAN	V	3	ENSP00000435370:L3V;ENSP00000431822:L3V;ENSP00000436110:L3V;ENSP00000434440:L3V;ENSP00000279259:L3V;ENSP00000434680:L3V;ENSP00000433139:L3V;ENSP00000413848:L3V	ENSP00000279259:L3V	L	-	1	0	FAU	64645855	1.000000	0.71417	0.994000	0.49952	0.853000	0.48598	4.503000	0.60407	1.476000	0.48215	0.650000	0.86243	CTC	.	.	none		0.537	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		C	64889279	G	C	64889279	1	2	16	0	1	0	0	0	0	0	0	0	5694	971	34	4		4	FAU	11	64889279	5'Flank	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5997379	64889279	70117237	175	4140										
RBM14	10432	hgsc.bcm.edu	37	chr11	66392639	66392640	+	In_Frame_Ins	INS	-	-	CTA													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tactcttcccaacctgctgcINSctatgtggcacagccagcca							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:66392639_66392640insCTA	ENST00000310137.4	+	2	1431_1432	c.1292_1293insCTA	c.(1291-1296)gcctat>gcCTActat	p.432_433insY	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	432	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAACCTGCTGCCTATGTGGCAC	0.614																																					p.A431delinsAY		Pindel,Atlas-Indel	.											.	RBM14	59	.	0			c.1292_1293insCTA						PASS	.																																			SO:0001652	inframe_insertion	10432	exon2			.	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1293_1295dupCTA	11.37:g.66392640_66392642dupCTA	ENSP00000311747:p.Tyr432_Tyr432dup	Somatic	80	.	.		WXS	Illumina HiSeq	Phase_I	70	12	0.171	NM_006328	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	In_Frame_Ins	INS	ENST00000310137.4	37	CCDS8147.1																																																																																			.	.	none		0.614	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		CTA	66392640	-	CTA	66392639	7	5	16	1	0	1	1	0	0	0	0	0	13115	739	26	0	1298	0	RBM14	11	66392639	In_Frame_Ins	INS	-	TCGA-FF-8062-01A-11D-2210-10	1503360	66392639	68613877	176	4141										
ALDH3B2	222	hgsc.bcm.edu	37	chr11	67432799	67432799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctctggcccccaatggccacGcggctgcagcccagcaatgc	11	18	1	0	rs80147122		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:67432799G>A	ENST00000349015.3	-	7	1101	c.663C>T	c.(661-663)cgC>cgT	p.R221R	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Silent_p.R221R	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	221					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAATGGCCACGCGGCTGCAGC	0.632																																					p.R221R		Atlas-SNP	.											ALDH3B2,NS,haematopoietic_neoplasm,0,2	ALDH3B2	46	2	0			c.C663T						scavenged	.						52	59	57					11																	67432799		2200	4293	6493	SO:0001819	synonymous_variant	222	exon7			GGCCACGCGGCTG	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.663C>T	11.37:g.67432799G>A		Somatic	277	2	0.00722022		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_001031615	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																			.	.	strong		0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		A	67432799	G	A	67432799	2	1	16	1	0	0	0	0	0	0	0	1	500	1074	38	1		1	ALDH3B2	11	67432799	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1040160	67432799	67573717	177	4142										
SUV420H1	51111	hgsc.bcm.edu	37	chr11	67925541	67925541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	attattaagctttgctacatAgagattgttatcgttgtcat	7	5	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:67925541A>G	ENST00000304363.4	-	11	2625	c.2272T>C	c.(2272-2274)Tat>Cat	p.Y758H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	758					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGCTACATAGAGATTGTTA	0.358																																					p.Y758H		Atlas-SNP	.											SUV420H1,NS,carcinoma,0,1	SUV420H1	125	1	0			c.T2272C						scavenged	.						185	192	190					11																	67925541		2200	4294	6494	SO:0001583	missense	51111	exon11			CTACATAGAGATT	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2272T>C	11.37:g.67925541A>G	ENSP00000305899:p.Tyr758His	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	186	2	0.0107527	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386174	0.61956	.	.	ENSG00000110066	ENST00000304363	T	0.65178	-0.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74372	-0.3687	10	0.87932	D	0	-22.9436	15.2862	0.73831	1.0:0.0:0.0:0.0	.	758	Q4FZB7	SV421_HUMAN	H	758	ENSP00000305899:Y758H	ENSP00000305899:Y758H	Y	-	1	0	SUV420H1	67682117	1.000000	0.71417	0.962000	0.40283	0.818000	0.46254	8.824000	0.92023	2.029000	0.59856	0.260000	0.18958	TAT	.	.	none		0.358	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		G	67925541	A	G	67925541	3	3	16	1	0	0	0	0	1	0	0	0	15411	420	15	3	389	3	SUV420H1	11	67925541	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	492742	67925541	67080975	178	4143										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78380664	78380664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cccagccgagtgatgcggtcGcggatgtcataccgtagtgg	15	11	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:78380664G>A	ENST00000278550.7	-	32	7188	c.6726C>T	c.(6724-6726)cgC>cgT	p.R2242R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2242					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)										TGATGCGGTCGCGGATGTCAT	0.572																																					p.R2242R		Atlas-SNP	.											ODZ4_ENST00000278550,colon,carcinoma,-1,2	.	.	2	0			c.C6726T						PASS	.						170	174	173					11																	78380664		2171	4252	6423	SO:0001819	synonymous_variant	26011	exon32			GCGGTCGCGGATG	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.6726C>T	11.37:g.78380664G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	143	37	0.258741	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																			.	.	none		0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78380664	G	A	78380664	2	1	16	1	0	0	0	0	0	0	0	1	10837	1074	38	1		1	ODZ4	11	78380664	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	10455123	78380664	56625852	179	4144										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85447546	85447546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cataaaaataatatttacccTcttttgaagtctgaaataaa	3	6	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:85447546T>C	ENST00000528231.1	-	5	858	c.581A>G	c.(580-582)gAg>gGg	p.E194G	SYTL2_ENST00000389960.4_Missense_Mutation_p.E194G|SYTL2_ENST00000316356.4_Missense_Mutation_p.E195G|SYTL2_ENST00000524452.1_Missense_Mutation_p.E194G|SYTL2_ENST00000527523.1_Missense_Mutation_p.E146G	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	194					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATATTTACCCTCTTTTGAAGT	0.328																																					p.E195G		Atlas-SNP	.											.	SYTL2	231	.	0			c.A584G						PASS	.						84	84	84					11																	85447546		2202	4297	6499	SO:0001583	missense	54843	exon5			TTACCCTCTTTTG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.581A>G	11.37:g.85447546T>C	ENSP00000431701:p.Glu194Gly	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_001162953	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.147895	0.57151	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.27720	1.73;1.75;1.75;1.65;1.73	5.93	5.93	0.95920	.	.	.	.	.	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.40834	0.73;0.546;0.611;0.546;0.554	P;B;B;B;B	0.45406	0.479;0.208;0.05;0.156;0.299	T	0.07290	-1.0780	8	.	.	.	.	14.6214	0.68588	0.0:0.0:0.0:1.0	.	146;194;194;195;52	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	G	194;195;194;146;194	ENSP00000374610:E194G;ENSP00000318803:E195G;ENSP00000431701:E194G;ENSP00000434010:E146G;ENSP00000435238:E194G	.	E	-	2	0	SYTL2	85125194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.569000	0.60865	2.271000	0.75665	0.533000	0.62120	GAG	.	.	none		0.328	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85447546	T	C	85447546	3	2	16	1	0	0	0	0	1	0	0	0	15480	1551	54	3	4760	3	SYTL2	11	85447546	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	7066882	85447546	49558970	180	4145										
ALKBH8	91801	hgsc.bcm.edu	37	chr11	107423860	107423860	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ataatggcttatctttatctAcattgttgttctcatagtgg	7	6	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:107423860A>T	ENST00000428149.2	-	5	720	c.569T>A	c.(568-570)gTa>gAa	p.V190E	ALKBH8_ENST00000530933.1_5'Flank|ALKBH8_ENST00000417449.2_Missense_Mutation_p.V193E|ALKBH8_ENST00000389568.3_Missense_Mutation_p.V190E|ALKBH8_ENST00000429370.1_Missense_Mutation_p.V190E	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	190					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)	p.V190A(2)		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)		ATCTTTATCTACATTGTTGTT	0.308																																					p.V190E		Atlas-SNP	.											ALKBH8_ENST00000428149,colon,carcinoma,0,2	ALKBH8	88	2	2	Substitution - Missense(2)	large_intestine(2)	c.T569A						scavenged	.						139	128	132					11																	107423860		2200	4294	6494	SO:0001583	missense	91801	exon5			TTATCTACATTGT	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.569T>A	11.37:g.107423860A>T	ENSP00000415885:p.Val190Glu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	74	3	0.0405405	NM_138775	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602662	0.87157	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.52	5.52	0.82312	.	0.062750	0.64402	D	0.000007	T	0.56411	0.1983	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61182	-0.7114	10	0.87932	D	0	-25.9757	14.8123	0.70006	1.0:0.0:0.0:0.0	.	190	Q96BT7	ALKB8_HUMAN	E	190;190;190;193	ENSP00000415885:V190E;ENSP00000391225:V190E;ENSP00000374219:V190E;ENSP00000397673:V193E	ENSP00000260318:V190E	V	-	2	0	ALKBH8	106929070	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.572000	0.90756	2.095000	0.63458	0.482000	0.46254	GTA	.	.	none		0.308	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		T	107423860	A	T	107423860	3	4	16	1	0	0	0	0	1	0	0	0	533	391	14	5	1457	5	ALKBH8	11	107423860	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	21976314	107423860	27582656	181	4146										
GRIK4	2900	hgsc.bcm.edu	37	chr11	120831697	120831697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccgtgcagcgcatggatgtgCccattgagtcagtggatgac	14	10	1	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:120831697C>T	ENST00000527524.2	+	17	2241	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P652S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	652					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CATGGATGTGCCCATTGAGTC	0.532																																					p.P652S		Atlas-SNP	.											GRIK4,NS,carcinoma,-1,1	GRIK4	149	1	0			c.C1954T						PASS	.						140	111	121					11																	120831697		2203	4299	6502	SO:0001583	missense	2900	exon15			GATGTGCCCATTG	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1954C>T	11.37:g.120831697C>T	ENSP00000435648:p.Pro652Ser	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	130	31	0.238462	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386043	0.95967	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11495	2.77;2.77	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03240	-1.1057	10	0.66056	D	0.02	.	19.0461	0.93020	0.0:1.0:0.0:0.0	.	652;652	A6H8K8;Q16099	.;GRIK4_HUMAN	S	652	ENSP00000435648:P652S;ENSP00000404063:P652S	ENSP00000404063:P652S	P	+	1	0	GRIK4	120336907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.593000	0.87608	0.655000	0.94253	CCC	.	.	none		0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120831697	C	T	120831697	3	4	16	1	0	0	0	0	1	0	0	0	6776	739	26	2	2012	2	GRIK4	11	120831697	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	13407837	120831697	14174819	182	4147										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134054582	134054582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctacaaagcctctgcaaggCgtcaacagctgaactgatca	8	12	4	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:134054582C>T	ENST00000534548.2	-	19	2465	c.2401G>A	c.(2401-2403)Gcc>Acc	p.A801T	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	801					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)	p.A801T(1)		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)		CTCTGCAAGGCGTCAACAGCT	0.473																																					p.A801T		Atlas-SNP	.											NCAPD3,caecum,carcinoma,0,1	NCAPD3	141	1	1	Substitution - Missense(1)	large_intestine(1)	c.G2401A						scavenged	.						81	76	78					11																	134054582		2201	4297	6498	SO:0001583	missense	23310	exon19			GCAAGGCGTCAAC	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.2401G>A	11.37:g.134054582C>T	ENSP00000433681:p.Ala801Thr	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	130	4	0.0307692	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.254899	0.01457	.	.	ENSG00000151503	ENST00000534548	T	0.67523	-0.27	5.59	-1.63	0.08345	Armadillo-like helical (1);Armadillo-type fold (1);	0.481174	0.25219	N	0.032244	T	0.29126	0.0724	N	0.02247	-0.625	0.23515	N	0.997515	B	0.09022	0.002	B	0.06405	0.002	T	0.28038	-1.0056	10	0.09084	T	0.74	-7.5009	5.5339	0.17001	0.2728:0.504:0.0:0.2231	.	801	P42695	CNDD3_HUMAN	T	801	ENSP00000433681:A801T	ENSP00000431612:A801T	A	-	1	0	NCAPD3	133559792	0.537000	0.26386	0.041000	0.18516	0.189000	0.23516	0.459000	0.21908	-0.213000	0.10094	-0.150000	0.13652	GCC	.	.	none		0.473	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134054582	C	T	134054582	3	4	16	1	0	0	0	0	1	0	0	0	10206	768	27	1	2163	1	NCAPD3	11	134054582	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	13222885	134054582	951934	183	4148										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134055332	134055332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggcaggtgccgaatgttccGtgccagtgtgagatattaca	13	8	0	1	rs143833204	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr11:134055332G>A	ENST00000534548.2	-	17	2199	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	712					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)	p.T712M(1)		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)		CGAATGTTCCGTGCCAGTGTG	0.423													G|||	5	0.000998403	0.0015	0.0029	5008	,	,		17054	0.001		0.0	False		,,,				2504	0.0				p.T712M		Atlas-SNP	.											NCAPD3,NS,carcinoma,0,1	NCAPD3	141	1	1	Substitution - Missense(1)	endometrium(1)	c.C2135T						scavenged	.	G	MET/THR	5,4397	9.9+/-24.2	0,5,2196	97	96	96		2135	1.8	0.3	11	dbSNP_134	96	0,8594		0,0,4297	yes	missense	NCAPD3	NM_015261.2	81	0,5,6493	AA,AG,GG		0.0,0.1136,0.0385	benign	712/1499	134055332	5,12991	2201	4297	6498	SO:0001583	missense	23310	exon17			TGTTCCGTGCCAG	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.2135C>T	11.37:g.134055332G>A	ENSP00000433681:p.Thr712Met	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	107	2	0.0186916	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	10.35	1.326484	0.24080	0.001136	0.0	ENSG00000151503	ENST00000534548	T	0.26810	1.71	5.94	1.83	0.25207	Armadillo-type fold (1);	0.245360	0.48286	N	0.000184	T	0.23846	0.0577	M	0.67953	2.075	0.80722	D	1	B	0.24186	0.099	B	0.17979	0.02	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.1569	7.0072	0.24844	0.1965:0.0:0.6796:0.1238	.	712	P42695	CNDD3_HUMAN	M	712	ENSP00000433681:T712M	ENSP00000431612:T712M	T	-	2	0	NCAPD3	133560542	1.000000	0.71417	0.294000	0.24946	0.365000	0.29674	3.753000	0.55180	0.073000	0.16731	-1.000000	0.02509	ACG	G|0.999;A|0.001	0.001	strong		0.423	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		A	134055332	G	A	134055332	3	1	16	1	0	0	0	0	1	0	0	0	10206	1145	40	1	2437	1	NCAPD3	11	134055332	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	750	134055332	951184	184	4149										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588444	10588444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cccttgatgattcagggaagGattttgaagatttaattcta	9	5	2	4	rs111237999	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:10588444G>C	ENST00000539033.1	-	1	156	c.142C>G	c.(142-144)Cct>Gct	p.P48A	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48A|KLRC2_ENST00000381902.2_Missense_Mutation_p.P48A																							TTCAGGGAAGGATTTTGAAGA	0.363													G|||	125	0.0249601	0.0386	0.0101	5008	,	,		16153	0.0298		0.0268	False		,,,				2504	0.0102				p.P48A		Atlas-SNP	.											KLRC2,NS,carcinoma,+1,1	KLRC2	29	1	0			c.C142G						scavenged	.						94	104	101					12																	10588444		1994	3988	5982	SO:0001583	missense	3822	exon1			GGGAAGGATTTTG																												ENST00000539033.1:c.142C>G	12.37:g.10588444G>C	ENSP00000437563:p.Pro48Ala	Somatic	231	19	0.0822511		WXS	Illumina HiSeq	Phase_I	292	28	0.0958904	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.662523	0.00107	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.04119	3.7;3.7;3.7	2.57	-1.4	0.08968	.	0.714893	0.12708	N	0.445758	T	0.01222	0.0040	N	0.00637	-1.305	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46925	-0.9156	10	0.02654	T	1	.	9.8776	0.41213	0.0:0.3246:0.6754:0.0	rs34194304	34;48;48	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	A	48	ENSP00000437563:P48A;ENSP00000371327:P48A;ENSP00000371326:P48A	ENSP00000371326:P48A	P	-	1	0	KLRC2;RP11-277P12.6	10479711	0.000000	0.05858	0.020000	0.16555	0.010000	0.07245	-0.911000	0.04050	-0.034000	0.13713	-1.406000	0.01132	CCT	.	.	weak		0.363	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			C	10588444	G	C	10588444	3	2	16	1	0	0	0	0	1	0	0	0	8416	1174	41	4	577	4	KLRC2	12	10588444	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		10588444	123263451	185	4150										
LST-3TM12	338821	hgsc.bcm.edu	37	chr12	21201693	21201693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttggcatgttttcaggaggaTatatcattaaaaaattcaaa	7	4	3	0	rs370821380		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:21201693T>A	ENST00000421593.2	+	8	1042	c.1042T>A	c.(1042-1044)Tat>Aat	p.Y348N	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.Y395N|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.Y395N	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	348						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCAGGAGGATATATCATTAA	0.353																																					p.Y348N		Atlas-SNP	.											.	SLCO1B7	85	.	0			c.T1042A						PASS	.						48	48	48					12																	21201693		2014	4205	6219	SO:0001583	missense	338821	exon8			GGAGGATATATCA	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1042T>A	12.37:g.21201693T>A	ENSP00000394168:p.Tyr348Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	176	46	0.261364	NM_001009562	Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.220808	0.39201	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.81415	-1.41;-1.41;-1.49	3.45	3.45	0.39498	.	0.479354	0.21186	N	0.078723	D	0.85898	0.5804	M	0.83012	2.62	0.25795	N	0.984577	D;P	0.54397	0.966;0.942	P;P	0.58873	0.847;0.847	T	0.77723	-0.2481	10	0.72032	D	0.01	.	5.4437	0.16523	0.0:0.1313:0.0:0.8687	.	348;395	G3V0H7;F5H094	.;.	N	395;395;348	ENSP00000370952:Y395N;ENSP00000452013:Y395N;ENSP00000394168:Y348N	ENSP00000370952:Y395N	Y	+	1	0	SLCO1B7;RP11-545J16.1	21092960	0.369000	0.25039	0.990000	0.47175	0.727000	0.41649	0.316000	0.19469	1.554000	0.49487	0.416000	0.27883	TAT	.	.	alt		0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21201693	T	A	21201693	3	1	16	1	0	0	0	0	1	0	0	0	9066	1406	49	5	1072	5	LST-3TM12	12	21201693	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	10613249	21201693	112650202	186	4151										
KRT3	3850	hgsc.bcm.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	caccaaagccaccaggaccaCcaaagccaccagcccctcca					rs148531142|rs184322044|rs142692092		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																					p.133_138del		Pindel	.											.	KRT3	65	.	0			c.397_414del						PASS	.			595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850	exon1			.		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del	Somatic	131	.	.		WXS	Illumina HiSeq	Phase_I	133	22	0.165	NM_057088	A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	CCDS44895.1																																																																																			.	.	none		0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	16	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-FF-8062-01A-11D-2210-10	31987721	53189414	80662481	187	4152										
SLC16A7	9194	hgsc.bcm.edu	37	chr12	60173423	60173423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	taacgtcaaagtttcaaatgCacagagtgtaacctcagaaa	7	8	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:60173423C>T	ENST00000261187.4	+	5	1564	c.1400C>T	c.(1399-1401)gCa>gTa	p.A467V	SLC16A7_ENST00000552024.1_Missense_Mutation_p.A467V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A467V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A467V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A368V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	467					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GTTTCAAATGCACAGAGTGTA	0.358																																					p.A467V		Atlas-SNP	.											.	SLC16A7	82	.	0			c.C1400T						PASS	.						75	72	73					12																	60173423		2203	4300	6503	SO:0001583	missense	9194	exon6			CAAATGCACAGAG	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1400C>T	12.37:g.60173423C>T	ENSP00000261187:p.Ala467Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001270622	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035740	0.19590	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448	T;T;T;T;T	0.17691	2.4;2.4;2.4;2.4;2.26	5.05	1.63	0.23807	.	4.485940	0.00687	N	0.000717	T	0.09774	0.0240	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23119	-1.0197	9	.	.	.	.	4.8693	0.13624	0.0:0.5139:0.1597:0.3264	.	467	O60669	MOT2_HUMAN	V	467;467;467;467;368	ENSP00000449547:A467V;ENSP00000448071:A467V;ENSP00000448742:A467V;ENSP00000261187:A467V;ENSP00000443731:A368V	.	A	+	2	0	SLC16A7	58459690	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.432000	0.21461	0.622000	0.30249	0.467000	0.42956	GCA	.	.	none		0.358	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		T	60173423	C	T	60173423	3	4	16	1	0	0	0	0	1	0	0	0	14413	710	25	2	1414	2	SLC16A7	12	60173423	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6984009	60173423	73678472	188	4153										
ZFC3H1	196441	hgsc.bcm.edu	37	chr12	72017233	72017233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttcagtgttaacaattcttgAaggattatcattagatggat	8	4	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:72017233A>G	ENST00000378743.3	-	24	5009	c.4651T>C	c.(4651-4653)Tca>Cca	p.S1551P		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1551					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACAATTCTTGAAGGATTATCA	0.343																																					p.S1551P		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.T4651C						PASS	.						103	93	96					12																	72017233		1834	4087	5921	SO:0001583	missense	196441	exon24			TTCTTGAAGGATT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4651T>C	12.37:g.72017233A>G	ENSP00000368017:p.Ser1551Pro	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623719	0.66901	.	.	ENSG00000133858	ENST00000378743	T	0.34072	1.38	4.98	4.98	0.66077	.	0.170588	0.39985	N	0.001204	T	0.48409	0.1498	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.45116	-0.9283	10	0.44086	T	0.13	.	14.6713	0.68945	1.0:0.0:0.0:0.0	.	1551	O60293	ZC3H1_HUMAN	P	1551	ENSP00000368017:S1551P	ENSP00000368017:S1551P	S	-	1	0	ZFC3H1	70303500	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.627000	0.61276	1.868000	0.54150	0.460000	0.39030	TCA	.	.	none		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		G	72017233	A	G	72017233	3	3	16	1	0	0	0	0	1	0	0	0	17630	246	9	2	1366	2	ZFC3H1	12	72017233	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	11843810	72017233	61834662	189	4154										
C12orf51	283450	hgsc.bcm.edu	37	chr12	112622063	112622063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agggaagtgactgtgtacatGgagcccatgtccgacaccga	13	10	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:112622063G>A	ENST00000430131.2	-	60	10586	c.9441C>T	c.(9439-9441)tcC>tcT	p.S3147S	HECTD4_ENST00000550722.1_Silent_p.S3423S|HECTD4_ENST00000377560.5_Silent_p.S3397S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3147					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)										CTGTGTACATGGAGCCCATGT	0.637																																					p.S3435S		Atlas-SNP	.											.	.	.	.	0			c.C10305T						PASS	.						74	85	82					12																	112622063		1990	4157	6147	SO:0001819	synonymous_variant	283450	exon61			GTACATGGAGCCC	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.9441C>T	12.37:g.112622063G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	82	18	0.219512	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																				.	.	none		0.637	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112622063	G	A	112622063	2	1	16	1	0	0	0	0	0	0	0	1	1696	1335	47	2		2	C12orf51	12	112622063	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	40604830	112622063	21229832	190	4155										
VSIG10	54621	hgsc.bcm.edu	37	chr12	118506328	118506333	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttcccctactgcagcatctTcctcctcctcctcctcctcc					rs67582641|rs199991783|rs72125532	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	TCCTCC	TCCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:118506328_118506333delTCCTCC	ENST00000359236.5	-	8	1692_1697	c.1416_1421delGGAGGA	c.(1414-1422)gaggaggaa>gaa	p.472_474EEE>E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	472	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCAGCAtcttcctcctcctcctcct	0.485														1628	0.32508	0.3737	0.2939	5008	,	,		23177	0.5248		0.1829	False		,,,				2504	0.2219				p.473_474del		Pindel	.											.	VSIG10	41	.	0			c.1417_1422del						PASS	.																																			SO:0001651	inframe_deletion	54621	exon8			.		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1416_1421delGGAGGA	12.37:g.118506334_118506339delTCCTCC	ENSP00000352172:p.Glu472_Glu473del	Somatic	221	0	0.000		WXS	Illumina HiSeq	Phase_I	209	65	0.311	NM_019086	Q9NWQ7	In_Frame_Del	DEL	ENST00000359236.5	37	CCDS44992.1																																																																																			.	.	strong		0.485	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		-	118506333	TCCTCC	-	118506328	7	5	16	1	0	1	0	1	0	0	0	0	17220	1783	62	0	209	0	VSIG10	12	118506328	In_Frame_Del	DEL	TCCTCC	TCGA-FF-8062-01A-11D-2210-10	5884265	118506328	15345567	191	4156										
PITPNM2	57605	hgsc.bcm.edu	37	chr12	123471235	123471235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aagttggccttgtgccgcagCgggtcatgcaccaggccgtc	14	13	1	0	rs147680163		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr12:123471235C>T	ENST00000542749.1	-	22	3618	c.3555G>A	c.(3553-3555)ccG>ccA	p.P1185P	PITPNM2_ENST00000280562.5_Silent_p.P1179P|PITPNM2_ENST00000320201.4_Silent_p.P1185P|PITPNM2_ENST00000392428.1_Silent_p.P906P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1185					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGCCGCAGCGGGTCATGCA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16633	0.0		0.0	False		,,,				2504	0.0				p.P1185P		Atlas-SNP	.											PITPNM2,bladder,carcinoma,0,1	PITPNM2	105	1	0			c.G3555A						scavenged	.	C		17,4389	24.3+/-50.5	1,15,2187	44	42	43		3555	-6.4	0.9	12	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	PITPNM2	NM_020845.2		1,15,6487	TT,TC,CC		0.0,0.3858,0.1307		1185/1350	123471235	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	57605	exon23			CCGCAGCGGGTCA	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3555G>A	12.37:g.123471235C>T		Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	178	3	0.0168539	NM_020845	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																			C|0.998;T|0.002	0.002	strong		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123471235	C	T	123471235	2	4	16	1	0	0	0	0	0	0	0	1	11951	755	27	1		1	PITPNM2	12	123471235	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	4964907	123471235	10380660	192	4157										
C1QTNF9	338872	hgsc.bcm.edu	37	chr13	24895902	24895902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttccttctgttcagcagccCgtgacagaggagagtttaaa	11	9	2	3	rs530287667	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:24895902C>A	ENST00000382071.2	+	4	1083	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.P333Q			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	333	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TTCAGCAGCCCGTGACAGAGG	0.453													C|||	3	0.000599042	0.0	0.0	5008	,	,		18131	0.001		0.0	False		,,,				2504	0.002				p.P333Q		Atlas-SNP	.											C1QTNF9,bladder,carcinoma,0,1	C1QTNF9	22	1	0			c.C998A						scavenged	.						100	108	105					13																	24895902		2203	4300	6503	SO:0001583	missense	338872	exon4			GCAGCCCGTGACA	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.998C>A	13.37:g.24895902C>A	ENSP00000371503:p.Pro333Gln	Somatic	119	3	0.0252101		WXS	Illumina HiSeq	Phase_I	154	4	0.025974	NM_178540	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842333	0.32513	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.90324	-2.65;-2.65	3.53	-2.97	0.05530	Tumour necrosis factor-like (1);Complement C1q protein (1);	2.280360	0.02327	N	0.073533	T	0.80433	0.4622	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67011	-0.5778	10	0.87932	D	0	.	2.2666	0.04080	0.4242:0.198:0.2782:0.0995	.	333	P0C862	C1T9A_HUMAN	Q	333	ENSP00000371503:P333Q;ENSP00000333737:P333Q	ENSP00000333737:P333Q	P	+	2	0	C1QTNF9	23793902	0.077000	0.21312	0.001000	0.08648	0.011000	0.07611	0.085000	0.14912	-0.409000	0.07553	-0.687000	0.03738	CCG	.	.	none		0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		A	24895902	C	A	24895902	3	1	16	1	0	0	0	0	1	0	0	0	1970	652	23	4	1008	4	C1QTNF9	13	24895902	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10		24895902	90273976	193	4158										
MTUS2	23281	hgsc.bcm.edu	37	chr13	30054459	30054459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcgcgcctgcaggaggagcaCggtgaccagctgctgagcat	16	12	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:30054459C>T	ENST00000380808.2	+	3	510	c.294C>T	c.(292-294)caC>caT	p.H98H	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000542829.1_Silent_p.H8H|MTUS2_ENST00000431530.3_Silent_p.H1129H	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1119						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGAGGAGCACGGTGACCAGC	0.667																																					p.H1129H		Atlas-SNP	.											.	MTUS2	279	.	0			c.C3387T						PASS	.						11	15	14					13																	30054459		2064	4188	6252	SO:0001819	synonymous_variant	23281	exon8			GGAGCACGGTGAC	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.294C>T	13.37:g.30054459C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	168	26	0.154762	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	CCDS41874.1																																																																																			.	.	none		0.667	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		T	30054459	C	T	30054459	2	4	16	1	0	0	0	0	0	0	0	1	9966	535	19	1		1	MTUS2	13	30054459	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5158557	30054459	85115419	194	4159										
NBEA	26960	hgsc.bcm.edu	37	chr13	35632915	35632915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgcaaatagggtattctgtgGtcaacttggtgccgtgtatg	13	6	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:35632915G>A	ENST00000400445.3	+	8	1688	c.1154G>A	c.(1153-1155)gGt>gAt	p.G385D	NBEA_ENST00000379939.2_Missense_Mutation_p.G385D|NBEA_ENST00000310336.4_Missense_Mutation_p.G385D|NBEA_ENST00000540320.1_Missense_Mutation_p.G385D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	385					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTATTCTGTGGTCAACTTGGT	0.358																																					p.G385D		Atlas-SNP	.											.	NBEA	340	.	0			c.G1154A						PASS	.						34	31	32					13																	35632915		1799	4063	5862	SO:0001583	missense	26960	exon8			TCTGTGGTCAACT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1154G>A	13.37:g.35632915G>A	ENSP00000383295:p.Gly385Asp	Somatic	344	0	0		WXS	Illumina HiSeq	Phase_I	395	68	0.172152	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004746	0.93287	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94886	0.8043	10	0.72032	D	0.01	.	19.6016	0.95566	0.0:0.0:1.0:0.0	.	385	Q5T321	.	D	385	ENSP00000440951:G385D;ENSP00000383295:G385D;ENSP00000369271:G385D;ENSP00000308534:G385D	ENSP00000308534:G385D	G	+	2	0	NBEA	34530915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.718000	0.92993	0.650000	0.86243	GGT	.	.	none		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	35632915	G	A	35632915	3	1	16	1	0	0	0	0	1	0	0	0	10187	1261	44	2	1184	2	NBEA	13	35632915	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5578456	35632915	79536963	195	4160										
NBEA	26960	hgsc.bcm.edu	37	chr13	36167546	36167546	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccttctcatccgttgcaaggTcttggagaactagtcagaga	10	10	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:36167546T>A	ENST00000400445.3	+	47	7792	c.7258T>A	c.(7258-7260)Tct>Act	p.S2420T	NBEA_ENST00000379939.2_Missense_Mutation_p.S2417T|NBEA_ENST00000310336.4_Missense_Mutation_p.S2420T|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000537702.1_Missense_Mutation_p.S213T|NBEA_ENST00000540320.1_Missense_Mutation_p.S2420T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2420	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGTTGCAAGGTCTTGGAGAAC	0.333																																					p.S2420T		Atlas-SNP	.											NBEA,NS,carcinoma,-1,1	NBEA	340	1	0			c.T7258A						scavenged	.						138	124	128					13																	36167546		1840	4086	5926	SO:0001583	missense	26960	exon47			GCAAGGTCTTGGA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7258T>A	13.37:g.36167546T>A	ENSP00000383295:p.Ser2420Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	90	3	0.0333333	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345069	0.61073	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.78	5.78	0.91487	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	N	0.16478	0.41	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.32693	-0.9897	10	0.08381	T	0.77	.	16.0914	0.81091	0.0:0.0:0.0:1.0	.	2420;2417	Q8NFP9;Q5T321	NBEA_HUMAN;.	T	2420;2420;2417;2420;1047;213;213	ENSP00000440951:S2420T;ENSP00000383295:S2420T;ENSP00000369271:S2417T;ENSP00000308534:S2420T;ENSP00000440233:S213T	ENSP00000308534:S2420T	S	+	1	0	NBEA	35065546	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.609000	0.82925	2.200000	0.70718	0.455000	0.32223	TCT	.	.	none		0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	36167546	T	A	36167546	3	1	16	1	0	0	0	0	1	0	0	0	10187	1667	58	5	7444	5	NBEA	13	36167546	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	534631	36167546	79002332	196	4161										
PCDH9	5101	hgsc.bcm.edu	37	chr13	66879059	66879059	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggggtgttgatatggacccaAgccaggaggcatccagcaat	14	9	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:66879059A>C	ENST00000377865.2	-	4	3576	c.3442T>G	c.(3442-3444)Ttg>Gtg	p.L1148V	PCDH9_ENST00000328454.5_Missense_Mutation_p.L1114V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.L1148V|PCDH9_ENST00000456367.1_Missense_Mutation_p.L1114V			Q9HC56	PCDH9_HUMAN	protocadherin 9	1148					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATGGACCCAAGCCAGGAGGC	0.517																																					p.L1148V		Atlas-SNP	.											.	PCDH9	252	.	0			c.T3442G						PASS	.						121	105	111					13																	66879059		2203	4300	6503	SO:0001583	missense	5101	exon5			GACCCAAGCCAGG	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3442T>G	13.37:g.66879059A>C	ENSP00000367096:p.Leu1148Val	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	112	20	0.178571	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771484	0.49680	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54675	0.64;0.64;0.56;0.56	6.16	5.03	0.67393	.	0.000000	0.38217	N	0.001780	T	0.43122	0.1233	L	0.39898	1.24	0.30218	N	0.797123	P;P;P	0.46859	0.85;0.885;0.85	B;B;B	0.43301	0.301;0.415;0.301	T	0.51100	-0.8748	10	0.45353	T	0.12	.	7.8316	0.29347	0.7928:0.0:0.2072:0.0	.	1106;1114;1148	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	V	1148;1148;1114;1114	ENSP00000442186:L1148V;ENSP00000367096:L1148V;ENSP00000401699:L1114V;ENSP00000332060:L1114V	ENSP00000332060:L1114V	L	-	1	2	PCDH9	65777060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.940000	0.40223	2.367000	0.80283	0.528000	0.53228	TTG	.	.	none		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		C	66879059	A	C	66879059	3	2	16	1	0	0	0	0	1	0	0	0	11518	69	3	5	275	5	PCDH9	13	66879059	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	30711513	66879059	48290819	197	4162										
LMO7	4008	hgsc.bcm.edu	37	chr13	76381767	76381767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gctatagaagagatgacctcGagatggcagccctggatcct	12	10	0	4	rs534047308		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:76381767G>A	ENST00000321797.8	+	8	1370	c.649G>A	c.(649-651)Gag>Aag	p.E217K	LMO7_ENST00000377534.3_Missense_Mutation_p.E502K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E217K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Missense_Mutation_p.E502K			Q8WWI1	LMO7_HUMAN	LIM domain 7	502					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGATGACCTCGAGATGGCAGC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18167	0.0		0.0	False		,,,				2504	0.0				p.E217K		Atlas-SNP	.											.	LMO7	334	.	0			c.G649A						PASS	.						93	86	88					13																	76381767		1568	3582	5150	SO:0001583	missense	4008	exon7			GACCTCGAGATGG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.649G>A	13.37:g.76381767G>A	ENSP00000317802:p.Glu217Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.44|13.44	2.238724|2.238724	0.39598|0.39598	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526528|ENST00000447038	T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58|.	5.83|5.83	4.11|4.11	0.48088|0.48088	.|.	0.288711|.	0.37304|.	N|.	0.002146|.	T|T	0.54515|0.54515	0.1863|0.1863	M|M	0.64997|0.64997	1.995|1.995	0.19300|0.19300	N|N	0.999977|0.999977	B;B|.	0.23735|.	0.09;0.022|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.66056|.	D|.	0.02|.	-4.5653|-4.5653	12.5045|12.5045	0.55973|0.55973	0.1331:0.0:0.8669:0.0|0.1331:0.0:0.8669:0.0	.|.	502;217|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	K|Q	502;502;217;217;123|125	ENSP00000349571:E502K;ENSP00000366757:E502K;ENSP00000317802:E217K;ENSP00000433352:E217K|.	ENSP00000317802:E217K|.	E|R	+|+	1|2	0|0	LMO7|LMO7	75279768|75279768	1.000000|1.000000	0.71417|0.71417	0.004000|0.004000	0.12327|0.12327	0.032000|0.032000	0.12392|0.12392	4.278000|4.278000	0.58946|0.58946	0.814000|0.814000	0.34374|0.34374	0.655000|0.655000	0.94253|0.94253	GAG|CGA	.	.	none		0.453	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		A	76381767	G	A	76381767	3	1	16	1	0	0	0	0	1	0	0	0	8855	1059	37	1	1546	1	LMO7	13	76381767	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	9502708	76381767	38788111	198	4163										
LMO7	4008	hgsc.bcm.edu	37	chr13	76415865	76415865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaagggtccaagtcttcagaCagagaaggaacccgagcagg	14	9	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:76415865C>A	ENST00000321797.8	+	22	3799	c.3078C>A	c.(3076-3078)gaC>gaA	p.D1026E	LMO7_ENST00000377534.3_Missense_Mutation_p.D1311E|LMO7_ENST00000341547.4_Missense_Mutation_p.D977E|LMO7_ENST00000465261.2_Missense_Mutation_p.D1026E|LMO7_ENST00000526202.1_Missense_Mutation_p.D903E|LMO7_ENST00000357063.3_Missense_Mutation_p.D1311E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1311					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTCTTCAGACAGAGAAGGAA	0.527																																					p.D1026E		Atlas-SNP	.											.	LMO7	334	.	0			c.C3078A						PASS	.						96	97	96					13																	76415865		2203	4300	6503	SO:0001583	missense	4008	exon21			TTCAGACAGAGAA	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3078C>A	13.37:g.76415865C>A	ENSP00000317802:p.Asp1026Glu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	93	30	0.322581	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.74|14.74	2.624220|2.624220	0.46840|0.46840	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	T;T;T;T;T;T;T|.	0.39997|.	1.65;1.63;1.64;1.06;1.06;1.07;1.05|.	5.95|5.95	4.09|4.09	0.47781|0.47781	.|.	0.607412|.	0.18332|.	N|.	0.144459|.	T|T	0.43389|0.43389	0.1245|0.1245	L|L	0.45581|0.45581	1.43|1.43	0.31577|0.31577	N|N	0.655654|0.655654	B;B;B;B;B|.	0.31318|.	0.06;0.319;0.012;0.06;0.119|.	B;B;B;B;B|.	0.26416|.	0.018;0.069;0.007;0.031;0.052|.	T|T	0.47837|0.47837	-0.9086|-0.9086	10|5	0.14656|.	T|.	0.56|.	-25.6026|-25.6026	4.7211|4.7211	0.12918|0.12918	0.1534:0.6166:0.1482:0.0818|0.1534:0.6166:0.1482:0.0818	.|.	903;977;1311;1026;1259|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	E|K	977;1311;1311;925;1026;903;1026|935;195	ENSP00000342112:D977E;ENSP00000349571:D1311E;ENSP00000366757:D1311E;ENSP00000366719:D925E;ENSP00000317802:D1026E;ENSP00000431129:D903E;ENSP00000433352:D1026E|.	ENSP00000317802:D1026E|.	D|Q	+|+	3|1	2|0	LMO7|LMO7	75313866|75313866	0.914000|0.914000	0.31030|0.31030	0.999000|0.999000	0.59377|0.59377	0.914000|0.914000	0.54420|0.54420	0.510000|0.510000	0.22723|0.22723	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAC|CAG	.	.	none		0.527	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		A	76415865	C	A	76415865	3	1	16	1	0	0	0	0	1	0	0	0	8855	477	17	4	4031	4	LMO7	13	76415865	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	34098	76415865	38754013	199	4164										
FAM70B	348013	hgsc.bcm.edu	37	chr13	114514733	114514733	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcagccgcttcccagttgcgCcctcctctgccctggcttcg	10	19	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr13:114514733C>G	ENST00000375353.3	+	9	865	c.838C>G	c.(838-840)Ccc>Gcc	p.P280A	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	280	Pro-rich.					integral component of membrane (GO:0016021)											CCCAGTTGCGCCCTCCTCTGC	0.647																																					p.P280A		Atlas-SNP	.											.	.	.	.	0			c.C838G						PASS	.						47	53	51					13																	114514733		2203	4300	6503	SO:0001583	missense	348013	exon9			GTTGCGCCCTCCT	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.838C>G	13.37:g.114514733C>G	ENSP00000364502:p.Pro280Ala	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	110	15	0.136364	NM_182614		Missense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	C	4.207	0.037268	0.08148	.	.	ENSG00000184497	ENST00000375353	T	0.40225	1.04	4.35	-5.0	0.03001	.	.	.	.	.	T	0.28400	0.0702	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30268	-0.9984	9	0.46703	T	0.11	-1.715	1.5609	0.02594	0.1161:0.2033:0.1673:0.5134	.	280	Q8WV15	FA70B_HUMAN	A	280	ENSP00000364502:P280A	ENSP00000364502:P280A	P	+	1	0	FAM70B	113599210	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.015000	0.12634	-1.335000	0.02241	0.484000	0.47621	CCC	.	.	none		0.647	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		G	114514733	C	G	114514733	3	3	16	1	0	0	0	0	1	0	0	0	5606	739	26	4	872	4	FAM70B	13	114514733	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	38098868	114514733	655145	200	4165										
CHD8	57680	hgsc.bcm.edu	37	chr14	21870201	21870201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctggtcaatgtcctcttcaCaaaacttggagccttcatca	6	12	6	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:21870201C>T	ENST00000557364.1	-	20	4240	c.3977G>A	c.(3976-3978)tGt>tAt	p.C1326Y	CHD8_ENST00000430710.3_Missense_Mutation_p.C1047Y|CHD8_ENST00000399982.2_Missense_Mutation_p.C1326Y|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1326					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCCTCTTCACAAAACTTGGA	0.403																																					p.C1326Y		Atlas-SNP	.											.	CHD8	339	.	0			c.G3977A						PASS	.						163	157	159					14																	21870201		2037	4224	6261	SO:0001583	missense	57680	exon19			TCTTCACAAAACT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3977G>A	14.37:g.21870201C>T	ENSP00000451601:p.Cys1326Tyr	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	197	31	0.15736	NM_001170629	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109408	0.77096	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.85702	-2.02;-2.02;-2.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89666	0.3880	10	0.38643	T	0.18	-18.0066	19.6509	0.95805	0.0:1.0:0.0:0.0	.	1326;1047	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	Y	1047;1326;1046;1326	ENSP00000406288:C1047Y;ENSP00000382863:C1326Y;ENSP00000451601:C1326Y	ENSP00000262707:C1046Y	C	-	2	0	CHD8	20940041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	TGT	.	.	none		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21870201	C	T	21870201	3	4	16	1	0	0	0	0	1	0	0	0	3331	478	17	2	3844	2	CHD8	14	21870201	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10		21870201	85479339	201	4166										
ADCY4	196883	hgsc.bcm.edu	37	chr14	24788543	24788543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggttgccgtacctgttgtgCatcctgtccagaggtggcat	14	10	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:24788543C>T	ENST00000310677.4	-	23	2946	c.2833G>A	c.(2833-2835)Gca>Aca	p.A945T	ADCY4_ENST00000554068.2_Missense_Mutation_p.A945T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A945T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	945					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACCTGTTGTGCATCCTGTCCA	0.552																																					p.A945T		Atlas-SNP	.											ADCY4,NS,carcinoma,+1,1	ADCY4	86	1	0			c.G2833A						scavenged	.						214	163	181					14																	24788543		2203	4300	6503	SO:0001583	missense	196883	exon23			GTTGTGCATCCTG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2833G>A	14.37:g.24788543C>T	ENSP00000312126:p.Ala945Thr	Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	328	4	0.0121951	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	6.076	0.382330	0.11524	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.30448	1.53;1.53;1.53	5.77	-1.24	0.09435	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.439500	0.19419	N	0.114743	T	0.16811	0.0404	L	0.39397	1.21	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.24261	-1.0165	10	0.13470	T	0.59	.	4.1052	0.10033	0.2524:0.3645:0.0:0.3831	.	945	Q8NFM4	ADCY4_HUMAN	T	945	ENSP00000312126:A945T;ENSP00000452250:A945T;ENSP00000393177:A945T	ENSP00000312126:A945T	A	-	1	0	ADCY4	23858383	0.001000	0.12720	0.098000	0.21074	0.947000	0.59692	-0.324000	0.07986	-0.139000	0.11414	-0.182000	0.12963	GCA	.	.	none		0.552	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24788543	C	T	24788543	3	4	16	1	0	0	0	0	1	0	0	0	296	710	25	2	416	2	ADCY4	14	24788543	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2918342	24788543	82560997	202	4167										
TTC9	23508	hgsc.bcm.edu	37	chr14	71109098	71109098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggcaaataccaccgggcgttGctggagctgaaggggctgct	16	10	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:71109098G>A	ENST00000256367.2	+	1	595	c.252G>A	c.(250-252)ttG>ttA	p.L84L	CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	84										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		ACCGGGCGTTGCTGGAGCTGA	0.682																																					p.L84L		Atlas-SNP	.											.	TTC9	11	.	0			c.G252A						PASS	.						10	12	11					14																	71109098		1871	4083	5954	SO:0001819	synonymous_variant	23508	exon1			GGCGTTGCTGGAG	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.252G>A	14.37:g.71109098G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	64	6	0.09375	NM_015351	Q86WT2	Silent	SNP	ENST00000256367.2	37	CCDS45132.1																																																																																			.	.	none		0.682	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		A	71109098	G	A	71109098	2	1	16	1	0	0	0	0	0	0	0	1	16712	1310	46	2		2	TTC9	14	71109098	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	46320555	71109098	36240442	203	4168										
ALKBH1	8846	hgsc.bcm.edu	37	chr14	78140406	78140406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaggacagcagggagaggtgCctctaggcagtgaggcaggc	19	8	1	2	rs370329463		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:78140406C>T	ENST00000216489.3	-	6	934	c.919G>A	c.(919-921)Gca>Aca	p.A307T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	307	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGGAGAGGTGCCTCTAGGCAG	0.547																																					p.A307T		Atlas-SNP	.											ALKBH1,NS,carcinoma,0,1	ALKBH1	30	1	0			c.G919A						scavenged	.	C	THR/ALA	0,4406		0,0,2203	70	67	68		919	1	0	14		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALKBH1	NM_006020.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	307/390	78140406	1,13005	2203	4300	6503	SO:0001583	missense	8846	exon6			GAGGTGCCTCTAG	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.919G>A	14.37:g.78140406C>T	ENSP00000216489:p.Ala307Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	118	2	0.0169492	NM_006020	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	2.059	-0.415868	0.04766	0.0	1.16E-4	ENSG00000100601	ENST00000216489	T	0.31769	1.48	5.95	0.973	0.19710	Oxoglutarate/iron-dependent oxygenase (1);	0.928117	0.09464	N	0.798622	T	0.10937	0.0267	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36625	-0.9740	10	0.12766	T	0.61	-38.5984	6.9655	0.24621	0.0:0.3738:0.1605:0.4657	.	307	Q13686	ALKB1_HUMAN	T	307	ENSP00000216489:A307T	ENSP00000216489:A307T	A	-	1	0	ALKBH1	77210159	0.001000	0.12720	0.004000	0.12327	0.495000	0.33615	0.471000	0.22100	0.171000	0.19730	-0.302000	0.09304	GCA	.	.	weak		0.547	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		T	78140406	C	T	78140406	3	4	16	1	0	0	0	0	1	0	0	0	526	739	26	2	254	2	ALKBH1	14	78140406	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7031308	78140406	29209134	204	4169										
KCNK10	54207	hgsc.bcm.edu	37	chr14	88652049	88652049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctcctcctctttcttctcctCgtccagggagtaattccgga	7	15	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:88652049C>T	ENST00000340700.5	-	7	1898	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E488K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E488K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	483					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTCTCCTCGTCCAGGGAG	0.502																																					p.E488K		Atlas-SNP	.											.	KCNK10	273	.	0			c.G1462A						PASS	.						149	148	148					14																	88652049		2203	4300	6503	SO:0001583	missense	54207	exon7			TCTCCTCGTCCAG	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1447G>A	14.37:g.88652049C>T	ENSP00000343104:p.Glu483Lys	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	275	68	0.247273	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944729	0.73672	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.94232	-3.36;-3.37;-3.38	5.5	5.5	0.81552	.	0.667612	0.15589	N	0.254476	D	0.90930	0.7149	L	0.46157	1.445	0.51767	D	0.999937	B;B;B	0.29612	0.251;0.251;0.251	B;B;B	0.15052	0.012;0.008;0.012	D	0.88801	0.3285	10	0.72032	D	0.01	.	18.3984	0.90507	0.0:1.0:0.0:0.0	.	483;488;488	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	K	483;488;488	ENSP00000343104:E483K;ENSP00000310568:E488K;ENSP00000312811:E488K	ENSP00000310568:E488K	E	-	1	0	KCNK10	87721802	1.000000	0.71417	0.929000	0.37066	0.786000	0.44442	7.294000	0.78760	2.599000	0.87857	0.655000	0.94253	GAG	.	.	none		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652049	C	T	88652049	3	4	16	1	0	0	0	0	1	0	0	0	8059	893	31	1	173	1	KCNK10	14	88652049	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	10511643	88652049	18697491	205	4170										
BTBD7	55727	hgsc.bcm.edu	37	chr14	93709220	93709221	+	Frame_Shift_Ins	INS	-	-	T													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tggattttctctggtgtctgINSttttttgctctagtgtgtgt							TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:93709220_93709221insT	ENST00000334746.5	-	11	3104_3105	c.2797_2798insA	c.(2797-2799)acafs	p.T933fs	BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.T582fs|BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.T507fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	933					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTGTCTGTTTTTTGCTCT	0.485																																					p.T933fs		Pindel,Atlas-Indel	.											.	BTBD7	112	.	0			c.2798_2799insA						PASS	.																																			SO:0001589	frameshift_variant	55727	exon11			.	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2798dupA	14.37:g.93709226_93709226dupT	ENSP00000335615:p.Thr933fs	Somatic	279	.	.		WXS	Illumina HiSeq	Phase_I	367	68	0.185	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	CCDS32146.1																																																																																			.	.	none		0.485	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		T	93709221	-	T	93709220	7	5	16	1	0	1	1	0	0	0	0	0	1546	1377	48	0	604	0	BTBD7	14	93709220	Frame_Shift_Ins	INS	-	TCGA-FF-8062-01A-11D-2210-10	5057171	93709220	13640320	206	4171										
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641016	99641016	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aaggggtccttcatgaagtgCcgcgacgccgcgtagcccac	13	14	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:99641016C>G	ENST00000357195.3	-	4	2166	c.2157G>C	c.(2155-2157)cgG>cgC	p.R719R	BCL11B_ENST00000443726.2_Silent_p.R525R|BCL11B_ENST00000345514.2_Silent_p.R648R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	719					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCATGAAGTGCCGCGACGCCG	0.667			T	TLX3	T-ALL																																p.R719R		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,NS,carcinoma,-2,1	BCL11B	108	1	0			c.G2157C						PASS	.						23	20	21					14																	99641016		2198	4295	6493	SO:0001819	synonymous_variant	64919	exon4			GAAGTGCCGCGAC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2157G>C	14.37:g.99641016C>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	28	7	0.25	NM_138576	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.	.	none		0.667	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		G	99641016	C	G	99641016	2	3	16	1	0	0	0	0	0	0	0	1	1364	726	26	4		4	BCL11B	14	99641016	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5931796	99641016	7708524	207	4172										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412770	105412770	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctcacttcggcctccaccttCggcgcagacacatccaccga	7	19	1	1	rs372139093		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr14:105412770C>T	ENST00000333244.5	-	7	9137	c.9018G>A	c.(9016-9018)ccG>ccA	p.P3006P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3006						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.597																																					p.P3006P		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.G9018A						scavenged	.						219	230	227					14																	105412770		2011	4151	6162	SO:0001819	synonymous_variant	113146	exon7			CACCTTCGGCGCA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9018G>A	14.37:g.105412770C>T		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	256	3	0.0117188	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	alt		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412770	C	T	105412770	2	4	16	1	0	0	0	0	0	0	0	1	415	871	31	1		1	AHNAK2	14	105412770	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5771754	105412770	1936770	208	4173										
C15orf29	79768	hgsc.bcm.edu	37	chr15	34445143	34445143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	attttctttatttgccatgtCacagcccccacttccagggg	7	13	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:34445143C>T	ENST00000256544.3	-	4	428	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	96						nucleolus (GO:0005730)											TTTGCCATGTCACAGCCCCCA	0.413																																					p.D96N		Atlas-SNP	.											C15orf29,NS,carcinoma,0,1	.	.	1	0			c.G286A						scavenged	.						97	102	100					15																	34445143		2201	4298	6499	SO:0001583	missense	79768	exon4			CCATGTCACAGCC	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 29"	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.286G>A	15.37:g.34445143C>T	ENSP00000256544:p.Asp96Asn	Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	193	3	0.015544	NM_024713	A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676144	0.47886	.	.	ENSG00000134152	ENST00000256544	.	.	.	5.47	4.54	0.55810	.	0.322034	0.36338	N	0.002651	T	0.37544	0.1007	N	0.11560	0.145	0.41592	D	0.988803	B	0.02656	0.0	B	0.06405	0.002	T	0.21008	-1.0258	9	0.36615	T	0.2	.	12.9194	0.58224	0.0:0.8676:0.0:0.1324	.	96	Q9H079	CO029_HUMAN	N	96	.	ENSP00000256544:D96N	D	-	1	0	C15orf29	32232435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.627000	0.54252	2.572000	0.86782	0.655000	0.94253	GAC	.	.	none		0.413	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		T	34445143	C	T	34445143	3	4	16	1	0	0	0	0	1	0	0	0	1789	826	29	2	656	2	C15orf29	15	34445143	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10		34445143	68086249	209	4174										
FAM98B	283742	hgsc.bcm.edu	37	chr15	38776833	38776833	+	IGR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggtggtggtggtggtggtggTggaggaggtggatatagaag	24	0	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:38776833T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G425G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.G425G(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggaggaggtg	0.428																																					p.G425G		Atlas-SNP	.											FAM98B_ENST00000397609,NS,carcinoma,0,2	FAM98B	53	2	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T1275A						scavenged	.						17	17	17					15																	38776833		1500	3373	4873	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGAGGA		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776833T>A		Somatic	61	1	0.0163934		WXS	Illumina HiSeq	Phase_I	74	2	0.027027	NM_173611	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																			.	.	none		0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776833	T	A	38776833	1	1	16	0	1	0	0	0	0	0	0	0	5657	1683	59	5		5	FAM98B	15	38776833	IGR	SNP	T	TCGA-FF-8062-01A-11D-2210-10	4331690	38776833	63754559	210	4175										
B2M	567	hgsc.bcm.edu	37	chr15	45003764	45003764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gatgtctcgctccgtggcctTagctgtgctcgcgctactct	11	14	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:45003764T>C	ENST00000558401.1	+	1	90	c.20T>C	c.(19-21)tTa>tCa	p.L7S	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Missense_Mutation_p.L7S|B2M_ENST00000544417.1_Missense_Mutation_p.L7S	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	7					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L7S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCCGTGGCCTTAGCTGTGCTC	0.607																																					p.L7S		Atlas-SNP	.											B2M,NS,lymphoid_neoplasm,0,1	B2M	99	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.T20C						scavenged	.						131	95	107					15																	45003764		2198	4298	6496	SO:0001583	missense	567	exon1			TGGCCTTAGCTGT	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.20T>C	15.37:g.45003764T>C	ENSP00000452780:p.Leu7Ser	Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	104	24	0.230769	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798275	0.31777	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01422	4.91	5.35	4.22	0.49857	.	2.541080	0.03331	U	0.193423	T	0.04227	0.0117	M	0.73598	2.24	0.09310	N	1	P;P;P	0.46512	0.879;0.808;0.808	P;B;B	0.44394	0.448;0.368;0.368	T	0.44097	-0.9350	10	0.40728	T	0.16	.	8.1935	0.31383	0.0:0.0892:0.0:0.9108	.	7;7;7	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	S	7	ENSP00000437604:L7S	ENSP00000340858:L7S	L	+	2	0	B2M	42791056	0.006000	0.16342	0.001000	0.08648	0.002000	0.02628	0.889000	0.28282	1.144000	0.42321	0.533000	0.62120	TTA	.	.	none		0.607	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		C	45003764	T	C	45003764	3	2	16	1	0	0	0	0	1	0	0	0	1244	1764	61	2	22	2	B2M	15	45003764	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	6226931	45003764	57527628	211	4176										
LACTB	114294	hgsc.bcm.edu	37	chr15	63433784	63433784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aaggaaacaaacgtatggttCgtgtagaaagcaacggcatt	11	6	0	1	rs556545187		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:63433784C>T	ENST00000261893.4	+	6	1496	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	475						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ACGTATGGTTCGTGTAGAAAG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20385	0.0		0.0	False		,,,				2504	0.001				p.S475L	Melanoma(85;443 1381 6215 27308 35583)	Atlas-SNP	.											LACTB,NS,carcinoma,-1,1	LACTB	29	1	0			c.C1424T						PASS	.						77	66	70					15																	63433784		2203	4300	6503	SO:0001583	missense	114294	exon6			ATGGTTCGTGTAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1424C>T	15.37:g.63433784C>T	ENSP00000261893:p.Ser475Leu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	163	39	0.239264	NM_032857	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	C	2.400	-0.337917	0.05278	.	.	ENSG00000103642	ENST00000261893	T	0.40476	1.03	5.64	5.64	0.86602	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.334872	0.37178	N	0.002209	T	0.20373	0.0490	N	0.22421	0.69	0.23838	N	0.996708	P	0.37500	0.597	B	0.30782	0.12	T	0.17561	-1.0365	10	0.11485	T	0.65	-11.5505	5.3675	0.16121	0.1481:0.6328:0.1427:0.0764	.	475	P83111	LACTB_HUMAN	L	475	ENSP00000261893:S475L	ENSP00000261893:S475L	S	+	2	0	LACTB	61220837	0.996000	0.38824	0.874000	0.34290	0.217000	0.24651	2.416000	0.44644	2.817000	0.96982	0.563000	0.77884	TCG	.	.	none		0.483	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		T	63433784	C	T	63433784	3	4	16	1	0	0	0	0	1	0	0	0	8597	893	31	1	1450	1	LACTB	15	63433784	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	18430020	63433784	39097608	212	4177										
RAB11A	8766	hgsc.bcm.edu	37	chr15	66170250	66170250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggcaataagagtgatctacgTcatctcagggcagttcctac	10	10	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:66170250T>C	ENST00000261890.2	+	3	515	c.387T>C	c.(385-387)cgT>cgC	p.R129R	RAB11A_ENST00000564910.1_Silent_p.R59R|RAB11A_ENST00000569896.1_Silent_p.R129R|RAB11A_ENST00000565075.1_Silent_p.R129R|RAB11A_ENST00000435304.2_Silent_p.R129R	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	129					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						GTGATCTACGTCATCTCAGGG	0.398																																					p.R129R		Atlas-SNP	.											RAB11A,NS,carcinoma,+1,1	RAB11A	14	1	0			c.T387C						scavenged	.						248	216	227					15																	66170250		2201	4299	6500	SO:0001819	synonymous_variant	8766	exon3			TCTACGTCATCTC	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.387T>C	15.37:g.66170250T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	126	5	0.0396825	NM_004663	B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Silent	SNP	ENST00000261890.2	37	CCDS10212.1																																																																																			.	.	none		0.398	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			C	66170250	T	C	66170250	2	2	16	1	0	0	0	0	0	0	0	1	12891	1654	58	2		2	RAB11A	15	66170250	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	2736466	66170250	36361142	213	4178										
MAP2K1	5604	hgsc.bcm.edu	37	chr15	66727441	66727441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agcgaaagcgccttgaggccTttcttacccagaagcagaag	11	11	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:66727441T>C	ENST00000307102.5	+	2	688	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.F53L(2)|p.F53S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCTTGAGGCCTTTCTTACCCA	0.547																																					p.F53L		Atlas-SNP	.											MAP2K1,rectum,carcinoma,0,3	MAP2K1	115	3	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.T157C						scavenged	.						155	146	149					15																	66727441		2201	4299	6500	SO:0001583	missense	5604	exon2			GAGGCCTTTCTTA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.157T>C	15.37:g.66727441T>C	ENSP00000302486:p.Phe53Leu	Somatic	88	1	0.0113636		WXS	Illumina HiSeq	Phase_I	94	26	0.276596	NM_002755		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	T	35	5.500444	0.96355	.	.	ENSG00000169032	ENST00000307102	D	0.93019	-3.15	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.76170	2.325	0.80722	D	1	D;D	0.61080	0.989;0.98	P;P	0.59115	0.852;0.805	D	0.93980	0.7257	10	0.26408	T	0.33	-14.6287	14.0473	0.64712	0.0:0.0:0.0:1.0	.	31;53	B4DFY5;Q02750	.;MP2K1_HUMAN	L	53	ENSP00000302486:F53L	ENSP00000302486:F53L	F	+	1	0	MAP2K1	64514495	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.924000	0.87555	1.911000	0.55334	0.383000	0.25322	TTT	.	.	none		0.547	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			C	66727441	T	C	66727441	3	2	16	1	0	0	0	0	1	0	0	0	9236	1609	56	3	163	3	MAP2K1	15	66727441	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	557191	66727441	35803951	214	4179										
ULK3	25989	hgsc.bcm.edu	37	chr15	75131687	75131687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgaatccccctcctggtcttTcttcacagcctgcaccacca	5	18	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr15:75131687T>C	ENST00000440863.2	-	8	971	c.880A>G	c.(880-882)Aaa>Gaa	p.K294E	ULK3_ENST00000569437.1_Missense_Mutation_p.K294E|ULK3_ENST00000568667.1_Missense_Mutation_p.K305E	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	294	MIT 1.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						TCCTGGTCTTTCTTCACAGCC	0.592																																					p.K294E		Atlas-SNP	.											.	ULK3	30	.	0			c.A880G						PASS	.						38	42	41					15																	75131687		1947	4121	6068	SO:0001583	missense	25989	exon8			GGTCTTTCTTCAC	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.880A>G	15.37:g.75131687T>C	ENSP00000400312:p.Lys294Glu	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	118	10	0.0847458	NM_001099436	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560326	0.45590	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.68903	-0.36	5.05	5.05	0.67936	MIT (2);	.	.	.	.	T	0.50343	0.1610	N	0.17082	0.46	0.46061	D	0.998848	B;B;B;B	0.31680	0.335;0.335;0.199;0.11	B;B;B;B	0.31290	0.127;0.127;0.072;0.031	T	0.50250	-0.8850	9	0.30854	T	0.27	-15.4837	13.6385	0.62235	0.0:0.0:0.0:1.0	.	305;204;294;294	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	E	294;305	ENSP00000400312:K294E	ENSP00000393658:K305E	K	-	1	0	ULK3	72918740	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.864000	0.69575	1.907000	0.55213	0.402000	0.26972	AAA	.	.	none		0.592	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		C	75131687	T	C	75131687	3	2	16	1	0	0	0	0	1	0	0	0	16974	1792	62	2	574	2	ULK3	15	75131687	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	8404246	75131687	27399705	215	4180										
RHBDF1	64285	hgsc.bcm.edu	37	chr16	112797	112797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcaaagaaggatgtgtccagCtcatcggggaaatcagttgt	13	7	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:112797C>A	ENST00000262316.6	-	6	913	c.771G>T	c.(769-771)gaG>gaT	p.E257D	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E257D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	257					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ATGTGTCCAGCTCATCGGGGA	0.602																																					p.E257D		Atlas-SNP	.											.	RHBDF1	54	.	0			c.G771T						PASS	.						112	118	116					16																	112797		2203	4300	6503	SO:0001583	missense	64285	exon6			GTCCAGCTCATCG	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.771G>T	16.37:g.112797C>A	ENSP00000262316:p.Glu257Asp	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	95	18	0.189474	NM_022450	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397914	0.25205	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.64260	-0.09;-0.09	4.56	3.57	0.40892	.	0.102644	0.64402	D	0.000003	T	0.44074	0.1276	N	0.20401	0.57	0.47621	D	0.999476	B;B;B	0.29481	0.085;0.245;0.002	B;B;B	0.36608	0.074;0.229;0.02	T	0.22591	-1.0212	10	0.09590	T	0.72	-35.6303	8.8488	0.35188	0.0:0.8267:0.0:0.1733	.	257;280;257	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	D	257	ENSP00000262316:E257D;ENSP00000392133:E257D	ENSP00000262316:E257D	E	-	3	2	RHBDF1	52797	0.997000	0.39634	0.999000	0.59377	0.981000	0.71138	0.894000	0.28350	2.359000	0.80004	0.462000	0.41574	GAG	.	.	none		0.602	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		A	112797	C	A	112797	3	1	16	1	0	0	0	0	1	0	0	0	13319	796	28	4	1848	4	RHBDF1	16	112797	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10		112797	90241956	216	4181										
PIGQ	9091	hgsc.bcm.edu	37	chr16	632296	632296	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgaggccggcaggcccctccGcctcctgatgcaggtgaggc	15	16	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:632296G>A	ENST00000026218.5	+	10	1619				PIGQ_ENST00000321878.5_Missense_Mutation_p.R527H|PIGQ_ENST00000409527.2_Missense_Mutation_p.R527H	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q						C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGGCCCCTCCGCCTCCTGATG	0.692																																					p.R527H		Atlas-SNP	.											.	PIGQ	43	.	0			c.G1580A						PASS	.						23	23	23					16																	632296		2195	4293	6488	SO:0001627	intron_variant	9091	exon10			CCCTCCGCCTCCT	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1532-587G>A	16.37:g.632296G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	107	44	0.411215	NM_004204	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635080	0.29068	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000540241	T;T	0.44482	0.92;0.92	5.08	5.08	0.68730	.	.	.	.	.	T	0.32041	0.0816	L	0.28400	0.85	0.80722	D	1	B	0.23377	0.084	B	0.17098	0.017	T	0.09509	-1.0671	9	0.14656	T	0.56	.	17.4349	0.87548	0.0:0.0:1.0:0.0	.	527	Q9BRB3-2	.	H	527;527;85	ENSP00000386760:R527H;ENSP00000326674:R527H	ENSP00000326674:R527H	R	+	2	0	PIGQ	572297	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	4.179000	0.58290	2.361000	0.80049	0.561000	0.74099	CGC	.	.	none		0.692	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		A	632296	G	A	632296	1	1	16	0	1	0	0	0	0	0	0	0	11896	1087	38	1		1	PIGQ	16	632296	Intron	SNP	G	TCGA-FF-8062-01A-11D-2210-10	519499	632296	89722457	217	4182										
ABCA3	21	hgsc.bcm.edu	37	chr16	2339491	2339491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gatgagggctccaatgccgtCggaggggtccatggccccac	15	13	0	1	rs145565697	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:2339491C>T	ENST00000301732.5	-	20	3344	c.2644G>A	c.(2644-2646)Gac>Aac	p.D882N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D824N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	882					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCAATGCCGTCGGAGGGGTCC	0.687													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.0				p.D882N		Atlas-SNP	.											.	ABCA3	176	.	0			c.G2644A						PASS	.	C	ASN/ASP	10,4380		0,10,2185	32	29	30		2644	0.5	0	16	dbSNP_134	30	0,8598		0,0,4299	yes	missense	ABCA3	NM_001089.2	23	0,10,6484	TT,TC,CC		0.0,0.2278,0.077	benign	882/1705	2339491	10,12978	2195	4299	6494	SO:0001583	missense	21	exon20			TGCCGTCGGAGGG	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2644G>A	16.37:g.2339491C>T	ENSP00000301732:p.Asp882Asn	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348915	0.24426	0.002278	0.0	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.91740	-2.9	4.68	0.543	0.17179	.	0.223978	0.44688	N	0.000432	D	0.84813	0.5555	L	0.36672	1.1	0.52099	D	0.999942	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.72360	-0.4317	10	0.30854	T	0.27	.	8.3806	0.32468	0.0:0.673:0.0:0.327	.	882;886;882	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	N	882;886	ENSP00000301732:D882N	ENSP00000301732:D882N	D	-	1	0	ABCA3	2279492	0.951000	0.32395	0.000000	0.03702	0.215000	0.24574	2.187000	0.42602	-0.026000	0.13895	0.561000	0.74099	GAC	C|0.998;T|0.002	0.002	strong		0.687	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		T	2339491	C	T	2339491	3	4	16	1	0	0	0	0	1	0	0	0	33	884	31	1	2526	1	ABCA3	16	2339491	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1707195	2339491	88015262	218	4183										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3614077	3614077	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atctcctcctcgttaaagccCcggatctccgtcatccggtc	7	17	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:3614077C>T	ENST00000301749.7	-	0	1266				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGTTAAAGCCCCGGATCTCCG	0.607																																					p.R287R		Atlas-SNP	.											NLRC3,NS,carcinoma,-2,1	NLRC3	103	1	0			c.G861A						PASS	.						47	53	51					16																	3614077		2025	4166	6191			197358	exon5			AAAGCCCCGGATC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614077C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	28	11	0.392857	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37																																																																																				.	.	none		0.607	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3614077	C	T	3614077	1	4	16	0	1	0	0	0	0	0	0	0	10468	610	22	2		2	NLRC3	16	3614077	RNA	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1274586	3614077	86740676	219	4184										
MYH11	4629	hgsc.bcm.edu	37	chr16	15880586	15880586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gttttcccggctccagactcGcctctgaaagacacgggaac	10	14	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:15880586G>A	ENST00000300036.5	-	5	643	c.534C>T	c.(532-534)ggC>ggT	p.G178G	MYH11_ENST00000576790.2_Silent_p.G178G|MYH11_ENST00000396324.3_Silent_p.G178G|MYH11_ENST00000452625.2_Silent_p.G178G	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	178	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCCAGACTCGCCTCTGAAAG	0.522			T	CBFB	AML																																p.G178G		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.C534T						PASS	.						107	86	93					16																	15880586		2197	4300	6497	SO:0001819	synonymous_variant	4629	exon5			AGACTCGCCTCTG	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.534C>T	16.37:g.15880586G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	178	47	0.264045	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			.	.	none		0.522	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15880586	G	A	15880586	2	1	16	1	0	0	0	0	0	0	0	1	10031	1074	38	1		1	MYH11	16	15880586	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	12266509	15880586	74474167	220	4185										
SMG1	23049	hgsc.bcm.edu	37	chr16	18847712	18847712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgtgtgcttatctcttgaaGcaagcttgcaagctgtgttg	11	7	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:18847712G>A	ENST00000446231.2	-	47	8159	c.7747C>T	c.(7747-7749)Ctt>Ttt	p.L2583F	SMG1_ENST00000389467.3_Missense_Mutation_p.L2583F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2583					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTCTTGAAGCAAGCTTGCA	0.383																																					p.L2583F		Atlas-SNP	.											.	SMG1	401	.	0			c.C7747T						PASS	.						125	115	118					16																	18847712		1903	4133	6036	SO:0001583	missense	23049	exon47			CTTGAAGCAAGCT	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7747C>T	16.37:g.18847712G>A	ENSP00000402515:p.Leu2583Phe	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	125	22	0.176	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688557	0.68271	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01215	5.16;5.16	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.64402	D	0.000010	T	0.02888	0.0086	N	0.19112	0.55	0.45427	D	0.998404	D	0.58620	0.983	P	0.56474	0.799	T	0.63782	-0.6559	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2583	Q96Q15	SMG1_HUMAN	F	2583	ENSP00000402515:L2583F;ENSP00000374118:L2583F	ENSP00000374118:L2583F	L	-	1	0	SMG1	18755213	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.862000	0.87013	2.941000	0.99782	0.655000	0.94253	CTT	.	.	none		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		A	18847712	G	A	18847712	3	1	16	1	0	0	0	0	1	0	0	0	14795	971	34	2	3306	2	SMG1	16	18847712	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2967126	18847712	71507041	221	4186										
TMC5	79838	hgsc.bcm.edu	37	chr16	19498605	19498605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcttcttgctctttttcccaTccttcaccggggtcttgtgc	7	14	5	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:19498605T>C	ENST00000396229.2	+	17	3279	c.2530T>C	c.(2530-2532)Tcc>Ccc	p.S844P	TMC5_ENST00000564959.1_Missense_Mutation_p.S527P|TMC5_ENST00000381414.4_Missense_Mutation_p.S844P|TMC5_ENST00000542583.2_Missense_Mutation_p.S844P|TMC5_ENST00000561503.1_Missense_Mutation_p.S485P|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Missense_Mutation_p.S598P|TMC5_ENST00000541464.1_Missense_Mutation_p.S792P	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	844					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTTTCCCATCCTTCACCGG	0.532																																					p.S844P		Atlas-SNP	.											.	TMC5	169	.	0			c.T2530C						PASS	.						75	65	69					16																	19498605		2197	4300	6497	SO:0001583	missense	79838	exon17			TTCCCATCCTTCA	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2530T>C	16.37:g.19498605T>C	ENSP00000379531:p.Ser844Pro	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	98	17	0.173469	NM_001105249	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499431	0.85069	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71817	-0.34;-0.28;-0.48;-0.48;-0.6	5.72	5.72	0.89469	.	0.165964	0.56097	D	0.000036	D	0.84982	0.5593	M	0.84948	2.725	0.44862	D	0.997878	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.87578	0.998;0.979;0.994;0.992;0.991;0.996	D	0.85275	0.1058	10	0.37606	T	0.19	-27.6788	14.9732	0.71249	0.0:0.0:0.0:1.0	.	792;527;598;598;844;844	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	P	792;844;844;844;598;527	ENSP00000441227:S792P;ENSP00000370822:S844P;ENSP00000379531:S844P;ENSP00000446274:S844P;ENSP00000219821:S598P	ENSP00000219821:S598P	S	+	1	0	TMC5	19406106	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	5.372000	0.66156	2.176000	0.68965	0.533000	0.62120	TCC	.	.	none		0.532	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		C	19498605	T	C	19498605	3	2	16	1	0	0	0	0	1	0	0	0	15985	1435	50	2	2902	2	TMC5	16	19498605	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	650893	19498605	70856148	222	4187										
ZNF423	23090	hgsc.bcm.edu	37	chr16	49670344	49670344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cggccggatattgtggtcccGcagccggtgattctgcagca	14	12	1	1	rs544721667		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:49670344G>A	ENST00000561648.1	-	4	2772	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	ZNF423_ENST00000262383.2_Missense_Mutation_p.R907W|ZNF423_ENST00000563137.2_Missense_Mutation_p.R847W|ZNF423_ENST00000535559.1_Missense_Mutation_p.R790W|ZNF423_ENST00000562871.1_Missense_Mutation_p.R847W|ZNF423_ENST00000562520.1_Missense_Mutation_p.R847W|ZNF423_ENST00000567169.1_Missense_Mutation_p.R790W	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	907					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGTGGTCCCGCAGCCGGTGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.001				p.R907W		Atlas-SNP	.											ZNF423_ENST00000262383,NS,carcinoma,+2,2	ZNF423	463	2	0			c.C2719T						PASS	.						61	59	60					16																	49670344		2198	4300	6498	SO:0001583	missense	23090	exon4			GGTCCCGCAGCCG	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2719C>T	16.37:g.49670344G>A	ENSP00000455426:p.Arg907Trp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	23	0.193277	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204654	0.58234	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10382	2.88;2.93	4.81	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	M	0.62723	1.935	0.43540	D	0.995834	D	0.89917	1.0	D	0.72625	0.978	T	0.01574	-1.1321	9	.	.	.	-25.0868	13.064	0.59022	0.0:0.0:0.463:0.537	.	907	Q2M1K9	ZN423_HUMAN	W	907;790	ENSP00000262383:R907W;ENSP00000442321:R790W	.	R	-	1	2	ZNF423	48227845	0.829000	0.29322	0.997000	0.53966	0.985000	0.73830	0.897000	0.28390	1.028000	0.39785	-0.268000	0.10319	CGG	.	.	none		0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49670344	G	A	49670344	3	1	16	1	0	0	0	0	1	0	0	0	17895	1086	38	1	1155	1	ZNF423	16	49670344	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	30171739	49670344	40684409	223	4188										
CDH16	1014	hgsc.bcm.edu	37	chr16	66944286	66944286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccactcacgatcaagccatGgtcttggcggggtgtgcaga	13	11	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:66944286G>A	ENST00000299752.4	-	15	2237	c.2044C>T	c.(2044-2046)Cat>Tat	p.H682Y	CDH16_ENST00000394055.3_Missense_Mutation_p.H660Y|CDH16_ENST00000570262.1_Missense_Mutation_p.H602Y|CDH16_ENST00000568632.1_Missense_Mutation_p.H585Y|CDH16_ENST00000565796.1_Missense_Mutation_p.H643Y	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	682	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATCAAGCCATGGTCTTGGCGG	0.632																																					p.H682Y		Atlas-SNP	.											.	CDH16	91	.	0			c.C2044T						PASS	.						111	113	112					16																	66944286		2200	4300	6500	SO:0001583	missense	1014	exon15			AGCCATGGTCTTG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2044C>T	16.37:g.66944286G>A	ENSP00000299752:p.His682Tyr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	135	25	0.185185	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794195	0.02862	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.55234	0.53;0.53	4.61	2.56	0.30785	.	0.293204	0.32884	N	0.005525	T	0.29491	0.0735	L	0.31294	0.92	0.25809	N	0.984415	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.26538	-1.0100	10	0.02654	T	1	-0.7022	4.7712	0.13157	0.3365:0.0:0.6635:0.0	.	660;682;682	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Y	660;682;646	ENSP00000377619:H660Y;ENSP00000299752:H682Y	ENSP00000299752:H682Y	H	-	1	0	CDH16	65501787	0.596000	0.26866	0.456000	0.27044	0.193000	0.23685	1.826000	0.39092	0.477000	0.27464	0.455000	0.32223	CAT	.	.	none		0.632	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		A	66944286	G	A	66944286	3	1	16	1	0	0	0	0	1	0	0	0	3101	1348	47	2	461	2	CDH16	16	66944286	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	17273942	66944286	23410467	224	4189										
ADAMTS18	170692	hgsc.bcm.edu	37	chr16	77387748	77387748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atttatactgtcctgcttgcTtgggctcatccactagacac	7	12	1	1	rs149505308		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:77387748T>C	ENST00000282849.5	-	10	1914	c.1496A>G	c.(1495-1497)aAg>aGg	p.K499R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	499	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCTGCTTGCTTGGGCTCATC	0.423													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20263	0.0		0.0	False		,,,				2504	0.0				p.K499R		Atlas-SNP	.											ADAMTS18,NS,carcinoma,+1,1	ADAMTS18	270	1	0			c.A1496G						scavenged	.	T	ARG/LYS	14,4382	21.2+/-45.6	1,12,2185	309	280	290		1496	5.2	1	16	dbSNP_134	290	0,8600		0,0,4300	yes	missense	ADAMTS18	NM_199355.2	26	1,12,6485	CC,CT,TT		0.0,0.3185,0.1077	benign	499/1222	77387748	14,12982	2198	4300	6498	SO:0001583	missense	170692	exon10			GCTTGCTTGGGCT	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1496A>G	16.37:g.77387748T>C	ENSP00000282849:p.Lys499Arg	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	277	5	0.0180505	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374169	0.42105	0.003185	0.0	ENSG00000140873	ENST00000282849	T	0.03524	3.9	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	L	0.58101	1.795	0.51767	D	0.999935	B;B	0.18610	0.029;0.023	B;B	0.18263	0.012;0.021	T	0.28299	-1.0048	10	0.29301	T	0.29	.	14.4909	0.67649	0.0:0.0:0.0:1.0	.	499;499	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	R	499	ENSP00000282849:K499R	ENSP00000282849:K499R	K	-	2	0	ADAMTS18	75945249	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.599000	0.61076	2.200000	0.70718	0.524000	0.50904	AAG	T|0.999;C|0.001	0.001	strong		0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			C	77387748	T	C	77387748	3	2	16	1	0	0	0	0	1	0	0	0	263	1609	56	3	2225	3	ADAMTS18	16	77387748	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	10443462	77387748	12967005	225	4190										
C16orf46	123775	hgsc.bcm.edu	37	chr16	81097482	81097482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atctggacaagtataggttgGttctgtttcttctgtgaact	10	6	4	1	rs367739815		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:81097482G>A	ENST00000299578.5	-	3	314	c.79C>T	c.(79-81)Cca>Tca	p.P27S	C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.P27S	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	27						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GTATAGGTTGGTTCTGTTTCT	0.343																																					p.P27S		Atlas-SNP	.											C16orf46_ENST00000378611,NS,malignant_melanoma,0,2	C16orf46	57	2	0			c.C79T						scavenged	.						166	150	155					16																	81097482		2202	4300	6502	SO:0001583	missense	123775	exon2			AGGTTGGTTCTGT	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.79C>T	16.37:g.81097482G>A	ENSP00000299578:p.Pro27Ser	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	141	2	0.0141844	NM_001100873	Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189749	0.38707	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.13778	2.56;2.56	5.37	0.624	0.17659	.	0.852033	0.10217	N	0.701381	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.25169	0.119;0.119	B;B	0.26416	0.069;0.069	T	0.36016	-0.9765	10	0.49607	T	0.09	.	3.8287	0.08865	0.3893:0.4015:0.2092:0.0	.	27;27	Q6P387-2;Q6P387	.;CP046_HUMAN	S	27	ENSP00000367874:P27S;ENSP00000299578:P27S	ENSP00000299578:P27S	P	-	1	0	C16orf46	79654983	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	0.728000	0.26013	0.581000	0.29539	0.563000	0.77884	CCA	.	.	alt		0.343	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		A	81097482	G	A	81097482	3	1	16	1	0	0	0	0	1	0	0	0	1815	1261	44	2	1144	2	C16orf46	16	81097482	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	3709734	81097482	9257271	226	4191										
ATP2C2	9914	hgsc.bcm.edu	37	chr16	84473085	84473085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggactctgactgccaatgaAatgacagtgacccagcttgt	11	10	1	4			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:84473085A>T	ENST00000262429.4	+	13	1253	c.1164A>T	c.(1162-1164)gaA>gaT	p.E388D	ATP2C2_ENST00000416219.2_Missense_Mutation_p.E388D|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	388					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCCAATGAAATGACAGTGA	0.512																																					p.E388D		Atlas-SNP	.											.	ATP2C2	75	.	0			c.A1164T						PASS	.						234	245	242					16																	84473085		2145	4254	6399	SO:0001583	missense	9914	exon13			CAATGAAATGACA	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1164A>T	16.37:g.84473085A>T	ENSP00000262429:p.Glu388Asp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	161	35	0.217391	NM_014861	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.441104	0.63067	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.96619	-4.07;-4.07	4.91	-5.36	0.02689	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000003	D	0.97620	0.9220	M	0.90198	3.095	0.40064	D	0.975936	D;D;D;P	0.58970	0.984;0.975;0.963;0.946	P;D;P;D	0.64237	0.898;0.923;0.883;0.923	D	0.97061	0.9771	10	0.87932	D	0	.	15.4601	0.75349	0.2567:0.0:0.7433:0.0	.	388;237;405;388	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	D	388;388;237	ENSP00000397925:E388D;ENSP00000262429:E388D	ENSP00000262429:E388D	E	+	3	2	ATP2C2	83030586	1.000000	0.71417	0.830000	0.32933	0.244000	0.25665	0.514000	0.22786	-0.979000	0.03529	-0.441000	0.05720	GAA	.	.	none		0.512	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		T	84473085	A	T	84473085	3	4	16	1	0	0	0	0	1	0	0	0	1144	11	1	5	1214	5	ATP2C2	16	84473085	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3375603	84473085	5881668	227	4192										
RNF166	115992	hgsc.bcm.edu	37	chr16	88766062	88766062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgatgtgggcaccacggggaCgaacttggggcagttggcca	17	9	0	1	rs144508728		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr16:88766062C>T	ENST00000312838.4	-	3	486	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	RNF166_ENST00000568683.1_Missense_Mutation_p.V22I|RNF166_ENST00000562499.1_5'Flank|RNF166_ENST00000541206.2_Missense_Mutation_p.V22I|RNF166_ENST00000537718.2_Missense_Mutation_p.V22I|RP5-1142A6.5_ENST00000561699.1_RNA|RNF166_ENST00000567844.1_Missense_Mutation_p.V50I	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	131							zinc ion binding (GO:0008270)			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ACCACGGGGACGAACTTGGGG	0.622																																					p.V131I		Atlas-SNP	.											.	RNF166	3	.	0			c.G391A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL	1,4393	2.1+/-5.4	0,1,2196	135	105	115		148,64,391	4.6	1	16	dbSNP_134	115	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	RNF166	NM_001171815.1,NM_001171816.1,NM_178841.3	29,29,29	0,2,6494	TT,TC,CC		0.0116,0.0228,0.0154	benign,benign,benign	50/157,22/129,131/238	88766062	2,12990	2197	4299	6496	SO:0001583	missense	115992	exon3			CGGGGACGAACTT	AK057106	CCDS10969.1, CCDS54056.1, CCDS54057.1	16q24.3	2013-01-09			ENSG00000158717	ENSG00000158717		"RING-type (C3HC4) zinc fingers"	28856	protein-coding gene	gene with protein product						12477932	Standard	NM_178841		Approved	MGC2647, MGC14381	uc002flk.3	Q96A37	OTTHUMG00000137863	ENST00000312838.4:c.391G>A	16.37:g.88766062C>T	ENSP00000326095:p.Val131Ile	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	99	4	0.040404	NM_178841	B3KQ03|D3DX75|H3BTU8|Q96DM0	Missense_Mutation	SNP	ENST00000312838.4	37	CCDS10969.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905259	0.52333	2.28E-4	1.16E-4	ENSG00000158717	ENST00000312838;ENST00000537718;ENST00000541206	T	0.15718	2.4	4.57	4.57	0.56435	.	0.136393	0.49305	D	0.000153	T	0.07954	0.0199	N	0.14661	0.345	0.44309	D	0.997187	P	0.44659	0.84	B	0.25405	0.06	T	0.35500	-0.9786	10	0.18710	T	0.47	-28.0268	16.9747	0.86310	0.0:1.0:0.0:0.0	.	131	Q96A37	RN166_HUMAN	I	131;50;22	ENSP00000326095:V131I	ENSP00000326095:V131I	V	-	1	0	RNF166	87293563	0.998000	0.40836	0.987000	0.45799	0.967000	0.64934	3.918000	0.56432	2.115000	0.64714	0.313000	0.20887	GTC	C|1.000;T|0.000	0.000	weak		0.622	RNF166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269544.1	NM_178841		T	88766062	C	T	88766062	3	4	16	1	0	0	0	0	1	0	0	0	13457	536	19	1	338	1	RNF166	16	88766062	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	4292977	88766062	1588691	228	4193										
SOX15	6665	hgsc.bcm.edu	37	chr17	7492686	7492686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggtgtcgggcgcggagccgCttggcctcctccacgaaggg	17	13	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:7492686C>T	ENST00000250055.2	-	1	802	c.309G>A	c.(307-309)aaG>aaA	p.K103K	SOX15_ENST00000570788.1_Silent_p.K103K|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Silent_p.K103K|FXR2_ENST00000573057.1_5'Flank	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	103					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CGCGGAGCCGCTTGGCCTCCT	0.682											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K103K		Atlas-SNP	.											.	SOX15	10	.	0			c.G309A						PASS	.						24	27	26					17																	7492686		2202	4299	6501	SO:0001819	synonymous_variant	6665	exon1			GAGCCGCTTGGCC	AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.309G>A	17.37:g.7492686C>T		Somatic	155	0	0	642	WXS	Illumina HiSeq	Phase_I	79	11	0.139241	NM_006942	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Silent	SNP	ENST00000250055.2	37	CCDS32549.1																																																																																			.	.	none		0.682	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440757.1	NM_006942		T	7492686	C	T	7492686	2	4	16	1	0	0	0	0	0	0	0	1	14946	796	28	2		2	SOX15	17	7492686	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10		7492686	73702524	229	4194										
MAPK7	5598	hgsc.bcm.edu	37	chr17	19285517	19285517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgtaccccagcctgcctgccCaccccctggccctgcacccc	7	24	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:19285517C>T	ENST00000308406.5	+	5	2287	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	MAPK7_ENST00000395604.3_Missense_Mutation_p.P634L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.P634L|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.P495L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	634	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGCCCACCCCCTGGC	0.706																																					p.P634L		Atlas-SNP	.											.	MAPK7	72	.	0			c.C1901T						PASS	.						17	18	18					17																	19285517		2190	4285	6475	SO:0001583	missense	5598	exon5			CCTGCCCACCCCC	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1901C>T	17.37:g.19285517C>T	ENSP00000311005:p.Pro634Leu	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	59	13	0.220339	NM_002749	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043860	0.19748	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.77489	-0.78;-1.1;-0.78;-0.78	4.87	2.72	0.32119	.	0.502080	0.21467	N	0.074080	T	0.55130	0.1901	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49952	-0.8884	10	0.59425	D	0.04	-0.6152	6.3873	0.21568	0.1809:0.7178:0.0:0.1013	.	634	Q13164	MK07_HUMAN	L	634;495;634;634	ENSP00000311005:P634L;ENSP00000299612:P495L;ENSP00000378968:P634L;ENSP00000378966:P634L	ENSP00000299612:P495L	P	+	2	0	MAPK7	19226110	0.001000	0.12720	0.025000	0.17156	0.710000	0.40934	0.264000	0.18497	1.174000	0.42811	0.313000	0.20887	CCA	.	.	none		0.706	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		T	19285517	C	T	19285517	3	4	16	1	0	0	0	0	1	0	0	0	9282	594	21	2	1915	2	MAPK7	17	19285517	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	11792831	19285517	61909693	230	4195										
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21318951	21318951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcctcctggctgctgttcggCatcatcttctgggtcatcgc	11	14	4	0	rs75757803	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:21318951C>T	ENST00000583088.1	+	3	1192	c.297C>T	c.(295-297)ggC>ggT	p.G99G	KCNJ12_ENST00000331718.5_Silent_p.G99G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	99					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)	TGCTGTTCGGCATCATCTTCT	0.637										Prostate(3;0.18)			.|||	25	0.00499201	0.0182	0.0014	5008	,	,		38536	0.0		0.0	False		,,,				2504	0.0				p.G99G		Atlas-SNP	.											KCNJ12,NS,carcinoma,+2,1	.	.	1	0			c.C297T						scavenged	.						116	75	89					17																	21318951		2203	4300	6503	SO:0001819	synonymous_variant	100134444	exon3			GTTCGGCATCATC	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.297C>T	17.37:g.21318951C>T		Somatic	189	48	0.253968		WXS	Illumina HiSeq	Phase_I	169	41	0.242604	NM_001194958	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																			C|0.500;T|0.500	0.500	weak		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21318951	C	T	21318951	2	4	16	1	0	0	0	0	0	0	0	1	8046	697	25	2		2	KCNJ12	17	21318951	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2033434	21318951	59876259	231	4196										
NF1	4763	hgsc.bcm.edu	37	chr17	29667603	29667603	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtcaacttgtattcagcaggTaccgcacttcttgaacaaaa	7	10	3	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:29667603T>G	ENST00000358273.4	+	47	7385	c.7002T>G	c.(7000-7002)ggT>ggG	p.G2334G	NF1_ENST00000356175.3_Silent_p.G2313G|NF1_ENST00000444181.2_Silent_p.G127G|NF1_ENST00000417592.2_Silent_p.G47G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2334					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTCAGCAGGTACCGCACTTC	0.438			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.G2334G		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.T7002G						PASS	.						122	108	113					17																	29667603		2203	4300	6503	SO:0001819	synonymous_variant	4763	exon47	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	AGCAGGTACCGCA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7002T>G	17.37:g.29667603T>G		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	155	22	0.141935	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																			.	.	none		0.438	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29667603	T	G	29667603	2	3	16	1	0	0	0	0	0	0	0	1	10356	1625	57	5		5	NF1	17	29667603	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10	8348652	29667603	51527607	232	4197										
DDX52	11056	hgsc.bcm.edu	37	chr17	35979827	35979827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgtaccttagtagtttctgAaaaccttttatgtattctgg	7	6	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:35979827A>C	ENST00000349699.2	-	13	1678	c.1635T>G	c.(1633-1635)ttT>ttG	p.F545L	DDX52_ENST00000394367.3_Missense_Mutation_p.F437L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	545	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Lys-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GTAGTTTCTGAAAACCTTTTA	0.338																																					p.F545L		Atlas-SNP	.											.	DDX52	40	.	0			c.T1635G						PASS	.						96	99	98					17																	35979827		2203	4300	6503	SO:0001583	missense	11056	exon13			TTTCTGAAAACCT	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1635T>G	17.37:g.35979827A>C	ENSP00000268854:p.Phe545Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	179	40	0.223464	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	A	4.181	0.032244	0.08101	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.13307	2.6;2.63	5.87	0.492	0.16872	Helicase, C-terminal (1);	0.095278	0.64402	N	0.000001	T	0.02494	0.0076	N	0.01015	-1.05	0.38208	D	0.940389	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.06365	T	0.9	.	1.6637	0.02797	0.3737:0.1278:0.3671:0.1314	.	545	Q9Y2R4	DDX52_HUMAN	L	545;437	ENSP00000268854:F545L;ENSP00000377893:F437L	ENSP00000268854:F545L	F	-	3	2	DDX52	33053940	0.998000	0.40836	0.991000	0.47740	0.741000	0.42261	0.324000	0.19610	-0.090000	0.12462	-0.242000	0.12053	TTT	.	.	none		0.338	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		C	35979827	A	C	35979827	3	2	16	1	0	0	0	0	1	0	0	0	4370	243	9	5	176	5	DDX52	17	35979827	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	6312224	35979827	45215383	233	4198										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240781	39240781	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtctgtgtgctgccagcccaCctgctgccgccccagctgct	11	18	1	0	rs372960430|rs553572799	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:39240781C>G	ENST00000391417.4	+	1	323	c.323C>G	c.(322-324)aCc>aGc	p.T108S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	133	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662																																					p.T108S		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-7	49	2	0			c.C323G						scavenged	.						13	15	14					17																	39240781		1874	3648	5522	SO:0001583	missense	100132476	exon1			AGCCCACCTGCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.323C>G	17.37:g.39240781C>G	ENSP00000375236:p.Thr108Ser	Somatic	42	1	0.0238095		WXS	Illumina HiSeq	Phase_I	36	4	0.111111	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.159	-0.644403	0.03531	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00580	6.43	3.41	1.04	0.20106	.	1.411810	0.05113	N	0.489187	T	0.00356	0.0011	.	.	.	0.19575	N	0.999961	B	0.17268	0.021	B	0.15052	0.012	T	0.35351	-0.9792	9	0.07175	T	0.84	.	7.6942	0.28585	0.1798:0.6442:0.176:0.0	.	108	Q9BYR0	KRA47_HUMAN	S	108;99	ENSP00000375236:T108S	ENSP00000375236:T108S	T	+	2	0	KRTAP4-9;KRTAP4-7	36494307	0.000000	0.05858	0.287000	0.24848	0.438000	0.31896	-2.909000	0.00699	0.494000	0.27859	0.455000	0.32223	ACC	.	.	alt		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240781	C	G	39240781	3	3	16	1	0	0	0	0	1	0	0	0	8555	507	18	4	325	4	KRTAP4-7	17	39240781	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3260954	39240781	41954429	234	4199										
COASY	80347	hgsc.bcm.edu	37	chr17	40716156	40716156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggtcagcgaggagacctatcGtggggggatggccatcaacc	16	10	2	1	rs367865615		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:40716156G>A	ENST00000393818.2	+	2	1334	c.878G>A	c.(877-879)cGt>cAt	p.R293H	MLX_ENST00000246912.4_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.R293H|COASY_ENST00000449624.1_5'UTR|RP11-400F19.8_ENST00000585572.1_RNA|MLX_ENST00000435881.2_5'Flank|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000420359.1_Missense_Mutation_p.R293H|COASY_ENST00000590958.1_Missense_Mutation_p.R322H	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	293	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAGACCTATCGTGGGGGGATG	0.622																																					p.R322H		Atlas-SNP	.											.	COASY	45	.	0			c.G965A						PASS	.						39	41	40					17																	40716156		2203	4300	6503	SO:0001583	missense	80347	exon4			CCTATCGTGGGGG	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.878G>A	17.37:g.40716156G>A	ENSP00000377406:p.Arg293His	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	153	41	0.267974	NM_001042532	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500814	0.85176	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818	D;D;D	0.96459	-4.01;-4.02;-4.02	5.23	5.23	0.72850	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.106801	0.64402	D	0.000014	D	0.97498	0.9181	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.973	D	0.97758	1.0219	10	0.87932	D	0	-11.0142	16.6827	0.85297	0.0:0.0:1.0:0.0	.	322;293	Q13057-2;Q13057	.;COASY_HUMAN	H	322;293;293	ENSP00000393564:R322H;ENSP00000413338:R293H;ENSP00000377406:R293H	ENSP00000377406:R293H	R	+	2	0	COASY	37969682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.983000	0.40648	2.882000	0.98803	0.655000	0.94253	CGT	.	.	alt		0.622	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		A	40716156	G	A	40716156	3	1	16	1	0	0	0	0	1	0	0	0	3652	1145	40	1	975	1	COASY	17	40716156	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	1475375	40716156	40479054	235	4200										
B4GALNT2	124872	hgsc.bcm.edu	37	chr17	47246178	47246178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccagctgcgtggtgaccagtGgcgtggtcaacttcttcctg	13	12	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:47246178G>T	ENST00000300404.2	+	10	1470	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G385C|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G411C	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	471					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGTGACCAGTGGCGTGGTCAA	0.567																																					p.G471C	GBM(124;244 1635 8663 18097 33175)	Atlas-SNP	.											B4GALNT2,colon,carcinoma,-2,1	B4GALNT2	67	1	0			c.G1411T						PASS	.						81	59	66					17																	47246178		2203	4300	6503	SO:0001583	missense	124872	exon10			ACCAGTGGCGTGG	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1411G>T	17.37:g.47246178G>T	ENSP00000300404:p.Gly471Cys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_153446	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716785	0.89205	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.25749	1.78;1.78;1.78	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	T	0.53238	0.1784	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51756	-0.8665	10	0.38643	T	0.18	-22.868	17.6682	0.88209	0.0:0.0:1.0:0.0	.	411;471	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	C	385;411;471	ENSP00000425510:G385C;ENSP00000377022:G411C;ENSP00000300404:G471C	ENSP00000300404:G471C	G	+	1	0	B4GALNT2	44601177	1.000000	0.71417	0.626000	0.29213	0.892000	0.51952	8.715000	0.91416	2.450000	0.82876	0.561000	0.74099	GGC	.	.	none		0.567	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		T	47246178	G	T	47246178	3	4	16	1	0	0	0	0	1	0	0	0	1267	1348	47	4	1467	4	B4GALNT2	17	47246178	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	6530022	47246178	33949032	236	4201										
TMEM49	81671	hgsc.bcm.edu	37	chr17	57915717	57915717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggagtacctggaggctcaaCggcagaagcttcaccacaaa	11	11	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:57915717C>T	ENST00000262291.4	+	11	1346	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.R154W|VMP1_ENST00000536180.1_Missense_Mutation_p.R249W|VMP1_ENST00000537567.1_Missense_Mutation_p.R212W|VMP1_ENST00000545362.1_Missense_Mutation_p.R290W|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	346					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.R346W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GGAGGCTCAACGGCAGAAGCT	0.502																																					p.R346W		Atlas-SNP	.											VMP1,caecum,carcinoma,0,1	VMP1	49	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T						scavenged	.						90	84	86					17																	57915717		2203	4300	6503	SO:0001583	missense	81671	exon11			GCTCAACGGCAGA		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1036C>T	17.37:g.57915717C>T	ENSP00000262291:p.Arg346Trp	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	226	3	0.0132743	NM_030938	B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512058	0.85389	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.95	5.95	0.96441	.	0.049123	0.85682	D	0.000000	T	0.76471	0.3992	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.67145	0.992;0.987;0.996;0.994	P;P;P;P	0.57846	0.761;0.629;0.721;0.828	T	0.79006	-0.1979	9	0.87932	D	0	-10.0857	16.0297	0.80570	0.1422:0.8578:0.0:0.0	.	212;249;290;346	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	W	346;212;154;249;290	.	ENSP00000262291:R346W	R	+	1	2	VMP1	55270499	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.010000	0.57117	2.827000	0.97445	0.650000	0.86243	CGG	.	.	none		0.502	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		T	57915717	C	T	57915717	3	4	16	1	0	0	0	0	1	0	0	0	16170	527	19	1	1074	1	TMEM49	17	57915717	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	10669539	57915717	23279493	237	4202										
BRIP1	83990	hgsc.bcm.edu	37	chr17	59760682	59760682	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	taaaaccaggaaacatgcctTtatttttggaaggagatggt	10	5	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:59760682T>G	ENST00000259008.2	-	20	3992	c.3725A>C	c.(3724-3726)aAa>aCa	p.K1242T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1242					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						AAACATGCCTTTATTTTTGGA	0.284			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																													p.K1242T		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.A3725C						PASS	.						63	66	65					17																	59760682		2202	4292	6494	SO:0001583	missense	83990	exon20			ATGCCTTTATTTT	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.3725A>C	17.37:g.59760682T>G	ENSP00000259008:p.Lys1242Thr	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	102	20	0.196078	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883513	0.33255	.	.	ENSG00000136492	ENST00000259008	T	0.77620	-1.11	4.35	4.35	0.52113	.	.	.	.	.	T	0.63010	0.2475	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.39617	0.305	T	0.61153	-0.7120	8	.	.	.	.	11.1816	0.48631	0.0:0.0:0.0:1.0	.	1242	Q9BX63	FANCJ_HUMAN	T	1242	ENSP00000259008:K1242T	.	K	-	2	0	BRIP1	57115464	1.000000	0.71417	0.914000	0.36105	0.079000	0.17450	2.496000	0.45346	1.710000	0.51325	0.383000	0.25322	AAA	.	.	none		0.284	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		G	59760682	T	G	59760682	3	3	16	1	0	0	0	0	1	0	0	0	1514	1841	64	5	28	5	BRIP1	17	59760682	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	1844965	59760682	21434528	238	4203										
GH2	2689	hgsc.bcm.edu	37	chr17	61957782	61957782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gcagtagagcagcccgtagtTcttgagcagtgcgtcatcgt	13	10	2	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:61957782T>A	ENST00000423893.2	-	5	614	c.553A>T	c.(553-555)Aac>Tac	p.N185Y	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.R183S|GH2_ENST00000449787.2_Missense_Mutation_p.N170Y			P01242	SOM2_HUMAN	growth hormone 2	185					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGCCCGTAGTTCTTGAGCAGT	0.557																																					p.N185Y		Atlas-SNP	.											.	GH2	73	.	0			c.A553T						PASS	.						201	164	177					17																	61957782		2203	4300	6503	SO:0001583	missense	2689	exon5			CGTAGTTCTTGAG	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.553A>T	17.37:g.61957782T>A	ENSP00000409294:p.Asn185Tyr	Somatic	460	0	0		WXS	Illumina HiSeq	Phase_I	412	95	0.230583	NM_002059	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.27|12.27	1.886442|1.886442	0.33348|0.33348	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000456543	D;D|D	0.88664|0.88896	-2.41;-2.41|-2.44	2.74|2.74	2.74|2.74	0.32292|0.32292	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	.|.	.|.	.|.	.|.	D|D	0.93115|0.93115	0.7808|0.7808	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.52170	1.0;1.0|0.951	D;D|P	0.97110|0.56088	1.0;0.998|0.791	D|D	0.91600|0.91600	0.5294|0.5294	9|9	0.87932|0.48119	D|T	0|0.1	.|.	5.5287|5.5287	0.16972|0.16972	0.0:0.1365:0.0:0.8635|0.0:0.1365:0.0:0.8635	.|.	185;170|183	P01242;O14643|O14644	SOM2_HUMAN;.|.	Y|S	185;170|183	ENSP00000409294:N185Y;ENSP00000410618:N170Y|ENSP00000394122:R183S	ENSP00000409294:N185Y|ENSP00000394122:R183S	N|R	-|-	1|3	0|2	GH2|GH2	59311514|59311514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.020000|0.020000	0.10135|0.10135	3.546000|3.546000	0.53656|0.53656	1.255000|1.255000	0.44051|0.44051	0.254000|0.254000	0.18369|0.18369	AAC|AGA	.	.	none		0.557	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		A	61957782	T	A	61957782	3	1	16	1	0	0	0	0	1	0	0	0	6368	1783	62	5	192	5	GH2	17	61957782	Missense_Mutation	SNP	T	TCGA-FF-8062-01A-11D-2210-10	2197100	61957782	19237428	239	4204										
ACOX1	51	hgsc.bcm.edu	37	chr17	73945836	73945836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atatgcttcggttaggctttCggggctgttgatatccacca	11	9	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr17:73945836C>T	ENST00000301608.4	-	10	1501	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ACOX1_ENST00000293217.5_Missense_Mutation_p.E481K|ACOX1_ENST00000537812.1_Missense_Mutation_p.E443K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	481					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GTTAGGCTTTCGGGGCTGTTG	0.572																																					p.E481K		Atlas-SNP	.											ACOX1_ENST00000301608,NS,carcinoma,0,4	ACOX1	85	4	0			c.G1441A						scavenged	.						118	95	103					17																	73945836		2203	4300	6503	SO:0001583	missense	51	exon10			GGCTTTCGGGGCT	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1441G>A	17.37:g.73945836C>T	ENSP00000301608:p.Glu481Lys	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	165	2	0.0121212	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	1.654	-0.513165	0.04200	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.39787	1.06;1.06;1.06	5.62	2.33	0.28932	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.760089	0.13248	N	0.402332	T	0.26048	0.0635	L	0.33668	1.02	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.005;0.004	B;B;B;B	0.12837	0.001;0.001;0.008;0.004	T	0.23691	-1.0181	10	0.13470	T	0.59	-10.6768	5.1665	0.15088	0.2256:0.3816:0.3256:0.0671	.	413;443;481;481	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	481;481;443;481;413	ENSP00000301608:E481K;ENSP00000293217:E481K;ENSP00000441257:E443K	ENSP00000293217:E481K	E	-	1	0	ACOX1	71457431	0.000000	0.05858	0.505000	0.27651	0.050000	0.14768	0.049000	0.14099	0.705000	0.31890	0.650000	0.86243	GAA	.	.	none		0.572	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			T	73945836	C	T	73945836	3	4	16	1	0	0	0	0	1	0	0	0	158	893	31	1	561	1	ACOX1	17	73945836	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	11988054	73945836	7249374	240	4205										
FAM59A	64762	hgsc.bcm.edu	37	chr18	29850212	29850212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cctgaagaatagtaggacaaGgtggggctgggagagcgagt	18	5	0	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr18:29850212G>A	ENST00000269209.6	-	5	1704	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	GAREM_ENST00000399218.4_Silent_p.T567T			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	567					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGTAGGACAAGGTGGGGCTGG	0.557																																					p.T567T		Atlas-SNP	.											.	.	.	.	0			c.C1701T						PASS	.						154	129	137					18																	29850212		2203	4300	6503	SO:0001819	synonymous_variant	64762	exon5			GGACAAGGTGGGG	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1701C>T	18.37:g.29850212G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	185	53	0.286486	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	CCDS56057.1																																																																																			.	.	none		0.557	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		A	29850212	G	A	29850212	2	1	16	1	0	0	0	0	0	0	0	1	5592	987	35	2		2	FAM59A	18	29850212	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10		29850212	48227036	241	4206										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31319710	31319710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atctgaagagccactctcccCgcagaaagatgagtcttccg	9	13	3	5	rs201776257		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr18:31319710C>T	ENST00000269197.5	+	11	2342	c.2342C>T	c.(2341-2343)cCg>cTg	p.P781L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	781	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACTCTCCCCGCAGAAAGAT	0.463																																					p.P781L		Atlas-SNP	.											ASXL3_ENST00000269197,right_lower_lobe,carcinoma,+1,2	ASXL3	405	2	0			c.C2342T						scavenged	.	C	LEU/PRO	1,3775		0,1,1887	37	38	38		2342	6	0.7	18		38	3,8235		0,3,4116	yes	missense	ASXL3	NM_030632.1	98	0,4,6003	TT,TC,CC		0.0364,0.0265,0.0333	possibly-damaging	781/2249	31319710	4,12010	1888	4119	6007	SO:0001583	missense	80816	exon11			TCTCCCCGCAGAA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2342C>T	18.37:g.31319710C>T	ENSP00000269197:p.Pro781Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	66	2	0.030303	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803611	0.31869	2.65E-4	3.64E-4	ENSG00000141431	ENST00000269197	T	0.16743	2.32	6.04	6.04	0.98038	.	0.736921	0.12683	N	0.447839	T	0.15825	0.0381	L	0.34521	1.04	0.51767	D	0.999933	P	0.42161	0.772	B	0.31390	0.129	T	0.14671	-1.0464	10	0.66056	D	0.02	.	19.583	0.95478	0.0:1.0:0.0:0.0	.	781	Q9C0F0	ASXL3_HUMAN	L	781	ENSP00000269197:P781L	ENSP00000269197:P781L	P	+	2	0	ASXL3	29573708	0.035000	0.19736	0.704000	0.30370	0.211000	0.24417	2.695000	0.47043	2.873000	0.98535	0.563000	0.77884	CCG	.	.	weak		0.463	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31319710	C	T	31319710	3	4	16	1	0	0	0	0	1	0	0	0	1068	652	23	1	2384	1	ASXL3	18	31319710	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1469498	31319710	46757538	242	4207										
FHOD3	80206	hgsc.bcm.edu	37	chr18	34340708	34340708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccgtggaggacgccaccccCgcgctgggcgtccgcacacg	14	18	0	0	rs200423151		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr18:34340708C>T	ENST00000359247.4	+	22	3987	c.3987C>T	c.(3985-3987)ccC>ccT	p.P1329P	FHOD3_ENST00000590592.1_Silent_p.P1529P|FHOD3_ENST00000257209.4_Silent_p.P1346P|FHOD3_ENST00000445677.1_Silent_p.P1308P|FHOD3_ENST00000591635.1_Silent_p.P542P|FHOD3_ENST00000592128.1_Silent_p.P325P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1329					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACGCCACCCCCGCGCTGGGCG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.0				p.P1346P		Atlas-SNP	.											.	FHOD3	210	.	0			c.C4038T						PASS	.						23	22	22					18																	34340708		2193	4295	6488	SO:0001819	synonymous_variant	80206	exon23			CACCCCCGCGCTG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3987C>T	18.37:g.34340708C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	22	5	0.227273	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37																																																																																				C|1.000;T|0.000	0.000	strong		0.687	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34340708	C	T	34340708	2	4	16	1	0	0	0	0	0	0	0	1	5883	639	23	1		1	FHOD3	18	34340708	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3020998	34340708	43736540	243	4208										
DSEL	92126	hgsc.bcm.edu	37	chr18	65180867	65180867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	attggaatctgctatacccaCagttctttggaagccaggta	9	9	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr18:65180867C>A	ENST00000310045.7	-	2	2482	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	327					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCTATACCCACAGTTCTTTGG	0.383																																					p.V337L		Atlas-SNP	.											.	DSEL	196	.	0			c.G1009T						PASS	.						69	74	72					18																	65180867		2203	4300	6503	SO:0001583	missense	92126	exon2			TACCCACAGTTCT	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1009G>T	18.37:g.65180867C>A	ENSP00000310565:p.Val337Leu	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	72	13	0.180556	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743918	0.49151	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.27402	1.67	4.9	4.9	0.64082	.	0.000000	0.64402	U	0.000002	T	0.31231	0.0790	M	0.71581	2.175	0.44694	D	0.997686	P	0.37955	0.612	B	0.33960	0.173	T	0.11665	-1.0578	10	0.39692	T	0.17	-13.9785	11.9105	0.52737	0.0:0.9195:0.0:0.0805	.	327	Q8IZU8	DSEL_HUMAN	L	337;327	ENSP00000310565:V337L	ENSP00000310565:V337L	V	-	1	0	DSEL	63331847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	2.460000	0.83146	0.563000	0.77884	GTG	.	.	none		0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		A	65180867	C	A	65180867	3	1	16	1	0	0	0	0	1	0	0	0	4775	478	17	4	2663	4	DSEL	18	65180867	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	30840159	65180867	12896381	244	4209										
MADCAM1	8174	hgsc.bcm.edu	37	chr19	501802	501802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccccggagcctcccgacaaGacctccccggagcccgcccc	9	23	0	1	rs75905809		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:501802G>C	ENST00000215637.3	+	4	847	c.801G>C	c.(799-801)aaG>aaC	p.K267N	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.K48N	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	267	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CTCCCGACAAGACCTCCCCGG	0.721																																					p.K267N		Atlas-SNP	.											MADCAM1,rectum,carcinoma,+1,1	MADCAM1	29	1	0			c.G801C						scavenged	.						12	14	13					19																	501802		2117	4139	6256	SO:0001583	missense	8174	exon4			CGACAAGACCTCC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.801G>C	19.37:g.501802G>C	ENSP00000215637:p.Lys267Asn	Somatic	146	39	0.267123		WXS	Illumina HiSeq	Phase_I	81	30	0.37037	NM_130760	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	g	1.225	-0.625782	0.03610	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10573	2.86	3.12	-6.25	0.02039	.	2.146880	0.03414	N	0.205240	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	10	0.16896	T	0.51	.	3.4407	0.07462	0.2616:0.3054:0.3464:0.0866	.	267	Q13477	MADCA_HUMAN	N	291;283;275;267	ENSP00000215637:K267N	ENSP00000215637:K267N	K	+	3	2	MADCAM1	452802	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.864000	0.00347	-2.471000	0.00529	-1.635000	0.00777	AAG	G|0.500;C|0.500	0.500	weak		0.721	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		C	501802	G	C	501802	3	2	16	1	0	0	0	0	1	0	0	0	9151	933	33	4	815	4	MADCAM1	19	501802	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		501802	58627181	245	4210										
CDC37	11140	hgsc.bcm.edu	37	chr19	10506866	10506866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccttctggaactgctccatgCgttccacccgggcctgcggg	12	16	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:10506866C>T	ENST00000222005.2	-	2	169	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	39					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCTCCATGCGTTCCACCCG	0.647																																					p.R39H		Atlas-SNP	.											CDC37,NS,carcinoma,-1,1	CDC37	32	1	0			c.G116A						scavenged	.						45	48	47					19																	10506866		2203	4300	6503	SO:0001583	missense	11140	exon2			TCCATGCGTTCCA	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.116G>A	19.37:g.10506866C>T	ENSP00000222005:p.Arg39His	Somatic	360	2	0.00555556		WXS	Illumina HiSeq	Phase_I	286	3	0.0104895	NM_007065	Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714165	0.89112	.	.	ENSG00000105401	ENST00000222005	T	0.63255	-0.03	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.80870	-0.1189	10	0.87932	D	0	.	14.3942	0.67001	0.0:1.0:0.0:0.0	.	39;39	Q6FG59;Q16543	.;CDC37_HUMAN	H	39	ENSP00000222005:R39H	ENSP00000222005:R39H	R	-	2	0	CDC37	10367866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.268000	0.78473	2.058000	0.61347	0.555000	0.69702	CGC	.	.	none		0.647	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		T	10506866	C	T	10506866	3	4	16	1	0	0	0	0	1	0	0	0	3068	768	27	1	1048	1	CDC37	19	10506866	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	10005064	10506866	48622117	246	4211										
ZNF563	147837	hgsc.bcm.edu	37	chr19	12430265	12430265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tttataaggtctatttccacCttgcactaccatgtgtcttc	5	11	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:12430265C>T	ENST00000293725.5	-	4	779	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	ZNF563_ENST00000595977.1_Missense_Mutation_p.G192S	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTATTTCCACCTTGCACTACC	0.423																																					p.G192S	GBM(39;623 795 5132 29510 31476)	Atlas-SNP	.											ZNF563,NS,carcinoma,0,1	ZNF563	77	1	0			c.G574A						scavenged	.						156	154	155					19																	12430265		2203	4300	6503	SO:0001583	missense	147837	exon4			TTCCACCTTGCAC	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.574G>A	19.37:g.12430265C>T	ENSP00000293725:p.Gly192Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	162	2	0.0123457	NM_145276	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114807	0.20795	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.15834	2.39	1.15	-1.61	0.08399	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06826	0.0174	N	0.00621	-1.32	0.09310	N	1	B;P	0.45634	0.095;0.863	B;P	0.49953	0.047;0.627	T	0.27806	-1.0063	9	0.36615	T	0.2	.	6.4571	0.21936	0.0:0.5113:0.0:0.4887	.	192;192	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	S	192	ENSP00000293725:G192S	ENSP00000293725:G192S	G	-	1	0	ZNF563	12291265	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	-0.248000	0.08854	-0.595000	0.05828	0.313000	0.20887	GGT	.	.	none		0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		T	12430265	C	T	12430265	3	4	16	1	0	0	0	0	1	0	0	0	17991	681	24	2	860	2	ZNF563	19	12430265	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1923399	12430265	46698718	247	4212										
NOTCH3	4854	hgsc.bcm.edu	37	chr19	15290007	15290007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gaaaccacccaccaggtccaCgcaggtgccattgtgtaggc	11	14	0	0	rs10408676	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:15290007C>T	ENST00000263388.2	-	22	3622	c.3547G>A	c.(3547-3549)Gtg>Atg	p.V1183M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1183	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		V -> M (in dbSNP:rs10408676). {ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACCAGGTCCACGCAGGTGCCA	0.632													C|||	423	0.0844649	0.289	0.0259	5008	,	,		18528	0.0		0.007	False		,,,				2504	0.0164				p.V1183M		Atlas-SNP	.											.	NOTCH3	340	.	0			c.G3547A						PASS	.	C	MET/VAL	1066,3340	371.5+/-320.0	150,766,1287	35	40	38		3547	3.9	1	19	dbSNP_119	38	67,8533	38.3+/-94.2	0,67,4233	yes	missense	NOTCH3	NM_000435.2	21	150,833,5520	TT,TC,CC		0.7791,24.1943,8.7114	possibly-damaging	1183/2322	15290007	1133,11873	2203	4300	6503	SO:0001583	missense	4854	exon22			GGTCCACGCAGGT	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3547G>A	19.37:g.15290007C>T	ENSP00000263388:p.Val1183Met	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	145	0.06639194139194139	125	0.2540650406504065	14	0.03867403314917127	0	0.0	6	0.0079155672823219	C	19.66	3.868866	0.72065	0.241943	0.007791	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95103	-3.61	3.9	3.9	0.45041	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00356	0.0011	M	0.80183	2.485	0.21445	P	0.999688477	D;P	0.58620	0.983;0.698	P;B	0.54629	0.757;0.384	T	0.00000	-1.3391	8	0.56958	D	0.05	.	8.7049	0.34349	0.0:0.8903:0.0:0.1097	rs10408676;rs60652871;rs10408676	1134;1183	Q59FL3;Q9UM47	.;NOTC3_HUMAN	M	1183;1133	ENSP00000263388:V1183M	ENSP00000263388:V1183M	V	-	1	0	NOTCH3	15151007	0.965000	0.33210	0.992000	0.48379	0.925000	0.55904	2.324000	0.43831	1.720000	0.51447	0.561000	0.74099	GTG	C|0.924;T|0.076	0.076	strong		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15290007	C	T	15290007	3	4	16	1	0	0	0	0	1	0	0	0	10550	536	19	1	3466	1	NOTCH3	19	15290007	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2859742	15290007	43838976	248	4213										
ZNF181	339318	hgsc.bcm.edu	37	chr19	35232117	35232117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gggaagacttttagccatggCtcatcccttacacgacatct	8	12	2	1	rs200927726		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:35232117C>T	ENST00000492450.1	+	4	920	c.831C>T	c.(829-831)ggC>ggT	p.G277G	ZNF181_ENST00000392232.3_Silent_p.G321G|ZNF181_ENST00000459757.2_Silent_p.G276G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G213G(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTAGCCATGGCTCATCCCTTA	0.443																																					p.G277G		Atlas-SNP	.											ZNF181,NS,carcinoma,+2,2	ZNF181	65	2	1	Substitution - coding silent(1)	kidney(1)	c.C831T						scavenged	.						90	95	93					19																	35232117		2203	4300	6503	SO:0001819	synonymous_variant	339318	exon4			CCATGGCTCATCC	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.831C>T	19.37:g.35232117C>T		Somatic	92	2	0.0217391		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_001029997	B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	CCDS32990.2																																																																																			C|0.999;T|0.001	0.001	weak		0.443	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		T	35232117	C	T	35232117	2	4	16	1	0	0	0	0	0	0	0	1	17746	784	28	2		2	ZNF181	19	35232117	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	19942110	35232117	23896866	249	4214										
ZNF585B	92285	hgsc.bcm.edu	37	chr19	37677388	37677388	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agtacatatggaagatttctCtctactttgaatcttctcat	5	8	4	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:37677388C>T	ENST00000532828.2	-	5	1302	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E296K|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGATTTCTCTCTACTTTGA	0.398																																					p.E351K	Melanoma(93;882 1454 18863 28917 48427)	Atlas-SNP	.											ZNF585B,NS,carcinoma,+2,2	ZNF585B	91	2	0			c.G1051A						scavenged	.						124	118	120					19																	37677388		2203	4300	6503	SO:0001583	missense	92285	exon5			ATTTCTCTCTACT	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1051G>A	19.37:g.37677388C>T	ENSP00000433773:p.Glu351Lys	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	133	2	0.0150376	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432432	0.62844	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.41065	1.01;1.01	2.93	2.93	0.34026	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001847	T	0.47783	0.1464	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.77557	0.99;0.947	T	0.47935	-0.9078	10	0.51188	T	0.08	.	11.5938	0.50962	0.0:1.0:0.0:0.0	.	296;351	E9PQH3;Q52M93	.;Z585B_HUMAN	K	296;351	ENSP00000436774:E296K;ENSP00000433773:E351K	ENSP00000436774:E296K	E	-	1	0	ZNF585B	42369228	0.997000	0.39634	0.942000	0.38095	0.483000	0.33249	4.324000	0.59228	1.623000	0.50342	0.455000	0.32223	GAG	.	.	none		0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		T	37677388	C	T	37677388	3	4	16	1	0	0	0	0	1	0	0	0	18015	922	32	2	1262	2	ZNF585B	19	37677388	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2445271	37677388	21451595	250	4215										
EID2B	126272	hgsc.bcm.edu	37	chr19	40023308	40023308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcggccactgggccttcccgAgcctcctgcacccgaacccc	9	21	0	0	rs1123301	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:40023308A>G	ENST00000326282.4	-	1	186	c.135T>C	c.(133-135)gcT>gcC	p.A45A	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTTCCCGAGCCTCCTGCA	0.751													.|||	4013	0.801318	0.8646	0.6484	5008	,	,		13555	0.8442		0.7425	False		,,,				2504	0.8405				p.A45A		Atlas-SNP	.											EID2B,NS,carcinoma,0,1	EID2B	9	1	0			c.T135C						scavenged	.	G		3691,533		1630,431,51	7	9	8		135	0	0	19	dbSNP_86	8	6168,2264		2313,1542,361	no	coding-synonymous	EID2B	NM_152361.1		3943,1973,412	GG,GA,AA		26.8501,12.6184,22.1002		45/162	40023308	9859,2797	2112	4216	6328	SO:0001819	synonymous_variant	126272	exon1			TTCCCGAGCCTCC	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.135T>C	19.37:g.40023308A>G		Somatic	6	1	0.166667		WXS	Illumina HiSeq	Phase_I	6	5	0.833333	NM_152361		Silent	SNP	ENST00000326282.4	37	CCDS12539.1																																																																																			A|0.234;G|0.766	0.766	strong		0.751	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		G	40023308	A	G	40023308	2	3	16	1	0	0	0	0	0	0	0	1	4988	291	11	3		3	EID2B	19	40023308	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	2345920	40023308	19105675	251	4216										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cacacacattgcatttgtatGgtttctcccctgtgtggact	8	11	1	0	rs77661661		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																					p.P455Q		Atlas-SNP	.											ZNF285,trunk,malignant_melanoma,0,1	ZNF285	86	1	1	Substitution - Missense(1)	skin(1)	c.C1364A						scavenged	.																																			SO:0001583	missense	26974	exon4			TTGTATGGTTTCT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln	Somatic	103	2	0.0194175		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA	.	.	weak		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891043	G	T	44891043	3	4	16	1	0	0	0	0	1	0	0	0	17819	1348	47	4	412	4	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	4867735	44891043	14237940	252	4217										
PRKD2	25865	hgsc.bcm.edu	37	chr19	47204071	47204071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tatacctctgggccttgcctCcctcgccttcctcctcctca	5	20	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:47204071C>T	ENST00000291281.4	-	7	1331	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	PRKD2_ENST00000595515.1_Missense_Mutation_p.G369E|PRKD2_ENST00000601806.1_Missense_Mutation_p.G212E|PRKD2_ENST00000600194.1_Missense_Mutation_p.G212E|PRKD2_ENST00000433867.1_Missense_Mutation_p.G369E			Q9BZL6	KPCD2_HUMAN	protein kinase D2	369					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCCTTGCCTCCCTCGCCTTC	0.572																																					p.G369E		Atlas-SNP	.											.	PRKD2	94	.	0			c.G1106A						PASS	.						62	50	54					19																	47204071		2203	4300	6503	SO:0001583	missense	25865	exon7			TTGCCTCCCTCGC	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1106G>A	19.37:g.47204071C>T	ENSP00000291281:p.Gly369Glu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	69	4	0.057971	NM_016457	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217694	0.09810	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.63744	-0.06;-0.06	4.28	-0.572	0.11745	.	1.007170	0.07985	N	0.986164	T	0.44767	0.1309	L	0.47716	1.5	0.24460	N	0.99445	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33007	-0.9885	10	0.05436	T	0.98	-3.4373	4.0249	0.09683	0.0:0.415:0.1761:0.4089	.	369;369	E7ER94;Q9BZL6	.;KPCD2_HUMAN	E	369	ENSP00000291281:G369E;ENSP00000393978:G369E	ENSP00000291281:G369E	G	-	2	0	PRKD2	51895911	0.359000	0.24955	0.792000	0.32020	0.882000	0.50991	0.493000	0.22451	0.198000	0.20407	0.555000	0.69702	GGA	.	.	none		0.572	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		T	47204071	C	T	47204071	3	4	16	1	0	0	0	0	1	0	0	0	12519	855	30	2	1578	2	PRKD2	19	47204071	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	2313028	47204071	11924912	253	4218										
KLK6	5653	hgsc.bcm.edu	37	chr19	51466703	51466703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgtcctggtcatggctggcGgcatcatagtcagggtggat	15	8	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:51466703G>A	ENST00000376851.3	-	4	739	c.300C>T	c.(298-300)gcC>gcT	p.A100A	KLK6_ENST00000310157.2_Silent_p.A100A|KLK6_ENST00000456750.2_5'Flank|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Silent_p.A100A|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CATGGCTGGCGGCATCATAGT	0.582																																					p.A100A		Atlas-SNP	.											.	KLK6	35	.	0			c.C300T						PASS	.						81	63	69					19																	51466703		2203	4300	6503	SO:0001819	synonymous_variant	5653	exon4			GCTGGCGGCATCA	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.300C>T	19.37:g.51466703G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	133	28	0.210526	NM_001012964	A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	CCDS12811.1																																																																																			.	.	none		0.582	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		A	51466703	G	A	51466703	2	1	16	1	0	0	0	0	0	0	0	1	8408	1103	39	1		1	KLK6	19	51466703	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	4262632	51466703	7662280	254	4219										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721049	54721049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggctcagttgccttccgtctAagggtcaagctgtgcagctg	13	11	3	0	rs60566950	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr19:54721049A>G	ENST00000391750.1	-	14	1945	c.1809T>C	c.(1807-1809)ctT>ctC	p.L603L	LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.L604L|LILRA6_ENST00000440558.2_Silent_p.L603L|LILRB3_ENST00000346401.6_Silent_p.L615L|LILRA6_ENST00000419410.2_Silent_p.L604L|LILRA6_ENST00000270464.5_Silent_p.L604L|LILRB3_ENST00000424807.1_Silent_p.L603L|LILRB3_ENST00000407860.2_Silent_p.L620L|LILRA6_ENST00000391735.3_3'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	603					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTTCCGTCTAAGGGTCAAGC	0.632													.|||	155	0.0309505	0.0998	0.0086	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0174				p.L604L		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	0			c.T1812C						scavenged	.	A	,	147,4257		24,99,2079	104	105	104		1812,1809	0.8	0	19	dbSNP_129	104	5,8595		0,5,4295	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	24,104,6374	GG,GA,AA		0.0581,3.3379,1.1689	,	604/633,603/632	54721049	152,12852	2202	4300	6502	SO:0001819	synonymous_variant	11025	exon13			CCGTCTAAGGGTC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1809T>C	19.37:g.54721049A>G		Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	336	4	0.0119048	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			A|0.980;G|0.020	0.020	strong		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		G	54721049	A	G	54721049	2	3	16	1	0	0	0	0	0	0	0	1	8792	349	13	2		2	LILRB3	19	54721049	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	3254346	54721049	4407934	255	4220										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1902270	1902270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtgctgacccgcgaggacgtTcactctcaagtcatctgcga	11	13	4	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:1902270T>C	ENST00000358771.4	+	3	818	c.666T>C	c.(664-666)gtT>gtC	p.V222V	SIRPA_ENST00000400068.3_Silent_p.V222V|SIRPA_ENST00000356025.3_Silent_p.V222V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	222	Ig-like C1-type 1.		V -> I.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCGAGGACGTTCACTCTCAAG	0.592																																					p.V222V	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,NS,carcinoma,+2,1	SIRPA	83	1	0			c.T666C						scavenged	.						71	64	66					20																	1902270		2203	4296	6499	SO:0001819	synonymous_variant	140885	exon4			GGACGTTCACTCT	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.666T>C	20.37:g.1902270T>C		Somatic	488	0	0		WXS	Illumina HiSeq	Phase_I	424	4	0.00943396	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																			.	.	none		0.592	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1902270	T	C	1902270	2	2	16	1	0	0	0	0	0	0	0	1	14332	1770	62	2		2	SIRPA	20	1902270	Silent	SNP	T	TCGA-FF-8062-01A-11D-2210-10		1902270	61123250	256	4221										
CPXM1	56265	hgsc.bcm.edu	37	chr20	2775239	2775239	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tgacagcgtcagcaatcccaAgctccgtgtccttgtccctc	8	16	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:2775239A>T	ENST00000380605.2	-	13	1971	c.1907T>A	c.(1906-1908)cTt>cAt	p.L636H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	636					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGCAATCCCAAGCTCCGTGTC	0.587																																					p.L636H		Atlas-SNP	.											.	CPXM1	107	.	0			c.T1907A						PASS	.						183	117	140					20																	2775239		2203	4300	6503	SO:0001583	missense	56265	exon13			ATCCCAAGCTCCG	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1907T>A	20.37:g.2775239A>T	ENSP00000369979:p.Leu636His	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	55	16	0.290909	NM_019609	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314694	0.23908	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.42131	0.98	5.53	1.79	0.24919	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.516425	0.19628	N	0.109747	T	0.25005	0.0607	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.13202	-1.0518	10	0.44086	T	0.13	-3.0776	4.3529	0.11163	0.4832:0.0:0.0892:0.4276	.	636	Q96SM3	CPXM1_HUMAN	H	636;332	ENSP00000369979:L636H	ENSP00000369979:L636H	L	-	2	0	CPXM1	2723239	0.000000	0.05858	0.155000	0.22561	0.974000	0.67602	-0.008000	0.12788	0.507000	0.28148	0.533000	0.62120	CTT	.	.	none		0.587	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2775239	A	T	2775239	3	4	16	1	0	0	0	0	1	0	0	0	3837	72	3	5	305	5	CPXM1	20	2775239	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	872969	2775239	60250281	257	4222										
CD93	22918	hgsc.bcm.edu	37	chr20	23065878	23065878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tttcccatggggtcccaggaCgcacgtggcccccccacgac	11	18	0	0	rs140540216		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:23065878C>T	ENST00000246006.4	-	1	1099	c.952G>A	c.(952-954)Gtc>Atc	p.V318I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	318	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		V -> A. {ECO:0000269|PubMed:11781389}.		macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTCCCAGGACGCACGTGGCC	0.637																																					p.V318I		Atlas-SNP	.											CD93,colon,carcinoma,0,1	CD93	84	1	0			c.G952A						PASS	.						39	43	42					20																	23065878		2203	4300	6503	SO:0001583	missense	22918	exon1			CCAGGACGCACGT	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.952G>A	20.37:g.23065878C>T	ENSP00000246006:p.Val318Ile	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	150	27	0.18	NM_012072	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	1.767	-0.485219	0.04352	.	.	ENSG00000125810	ENST00000246006	D	0.87412	-2.25	5.42	-2.28	0.06826	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.855870	0.02965	N	0.143707	T	0.75591	0.3870	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.59215	-0.7496	10	0.12103	T	0.63	-4.8249	3.9396	0.09321	0.0988:0.4634:0.0974:0.3404	.	318	Q9NPY3	C1QR1_HUMAN	I	318	ENSP00000246006:V318I	ENSP00000246006:V318I	V	-	1	0	CD93	23013878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.089000	0.01357	-0.557000	0.06126	-1.014000	0.02459	GTC	C|1.000;A|0.000	.	alt		0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		T	23065878	C	T	23065878	3	4	16	1	0	0	0	0	1	0	0	0	3047	536	19	1	1014	1	CD93	20	23065878	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	20290639	23065878	39959642	258	4223										
C20orf3	57136	hgsc.bcm.edu	37	chr20	24954343	24954343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cattttcaagttttacgaccCggccatctgctgtcccagta	7	13	2	0	rs115779992	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:24954343C>T	ENST00000217456.2	-	4	649	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	APMAP_ENST00000447138.1_Missense_Mutation_p.R120Q|RNU6-1257P_ENST00000384625.1_RNA	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	120					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TTTTACGACCCGGCCATCTGC	0.453																																					p.R120Q		Atlas-SNP	.											C20orf3,trunk,malignant_melanoma,-1,1	APMAP	3	1	0			c.G359A						scavenged	.						83	75	78					20																	24954343		2203	4300	6503	SO:0001583	missense	57136	exon4			ACGACCCGGCCAT	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.359G>A	20.37:g.24954343C>T	ENSP00000217456:p.Arg120Gln	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	2	0.0194175	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.370690|2.370690	0.42003|0.42003	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456;ENST00000447138	.|T;T	.|0.34275	.|1.37;1.37	5.43|5.43	2.48|2.48	0.30137|0.30137	.|Six-bladed beta-propeller, TolB-like (1);	.|0.351801	.|0.30930	.|N	.|0.008591	T|T	0.31888|0.31888	0.0811|0.0811	M|M	0.66560|0.66560	2.04|2.04	0.32886|0.32886	D|D	0.511187|0.511187	.|B;B;B	.|0.23316	.|0.049;0.083;0.064	.|B;B;B	.|0.12156	.|0.007;0.007;0.007	T|T	0.30650|0.30650	-0.9971|-0.9971	5|10	.|0.36615	.|T	.|0.2	-10.8339|-10.8339	7.4663|7.4663	0.27324|0.27324	0.0:0.6617:0.0:0.3383|0.0:0.6617:0.0:0.3383	.|.	.|120;104;120	.|Q9HDC9-2;A2A2F9;Q9HDC9	.|.;.;APMAP_HUMAN	R|Q	105|120	.|ENSP00000217456:R120Q;ENSP00000415373:R120Q	.|ENSP00000217456:R120Q	G|R	-|-	1|2	0|0	C20orf3|C20orf3	24902343|24902343	0.988000|0.988000	0.35896|0.35896	0.366000|0.366000	0.25914|0.25914	0.977000|0.977000	0.68977|0.68977	1.068000|1.068000	0.30629|0.30629	0.283000|0.283000	0.22279|0.22279	-0.137000|-0.137000	0.14449|0.14449	GGG|CGG	C|0.997;A|0.003	.	alt		0.453	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		T	24954343	C	T	24954343	3	4	16	1	0	0	0	0	1	0	0	0	2109	652	23	1	915	1	C20orf3	20	24954343	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	1888465	24954343	38071177	259	4224										
SCAND1	51282	hgsc.bcm.edu	37	chr20	34542105	34542105	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ggcagcgaggagcccacacaGttacgctcaggggctgagct	15	12	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:34542105G>C	ENST00000373991.3	-	3	1172	c.102C>G	c.(100-102)aaC>aaG	p.N34K	SCAND1_ENST00000305978.2_Missense_Mutation_p.N34K			P57086	SCND1_HUMAN	SCAN domain containing 1	34					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					AGCCCACACAGTTACGCTCAG	0.697																																					p.N97K		Atlas-SNP	.											.	SCAND1	2	.	0			c.C291G						PASS	.						11	12	12					20																	34542105		2173	4249	6422	SO:0001583	missense	51282	exon2			CACACAGTTACGC	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"-"	10566	protein-coding gene	gene with protein product		610416	"SCAN domain-containing 1"			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.102C>G	20.37:g.34542105G>C	ENSP00000363103:p.Asn34Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	69	5	0.0724638	NM_033630	Q6IAG7	Missense_Mutation	SNP	ENST00000373991.3	37	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078518	0.36662	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.08370	3.1;3.1	4.31	1.19	0.21007	.	0.828409	0.10092	N	0.717113	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	1	B	0.19583	0.037	B	0.21546	0.035	T	0.47169	-0.9138	10	0.17369	T	0.5	.	8.3967	0.32561	0.2657:0.0:0.7343:0.0	.	34	P57086	SCND1_HUMAN	K	34	ENSP00000301995:N34K;ENSP00000363103:N34K	ENSP00000301995:N34K	N	-	3	2	SCAND1	34005519	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.103000	0.10940	0.182000	0.20032	0.561000	0.74099	AAC	.	.	none		0.697	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078958.2	NM_016558		C	34542105	G	C	34542105	3	2	16	1	0	0	0	0	1	0	0	0	13875	1020	36	4	441	4	SCAND1	20	34542105	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	9587762	34542105	28483415	260	4225										
FAM83D	81610	hgsc.bcm.edu	37	chr20	37555095	37555095	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgagcgccgccatggctctgCtgtccgagggcctggacgag	16	14	1	0	rs542789388		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:37555095C>G	ENST00000217429.4	+	1	141	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	4					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CATGGCTCTGCTGTCCGAGGG	0.672																																					p.L34V		Atlas-SNP	.											.	FAM83D	60	.	0			c.C100G						PASS	.						13	17	15					20																	37555095		1906	4100	6006	SO:0001583	missense	81610	exon1			GCTCTGCTGTCCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.100C>G	20.37:g.37555095C>G	ENSP00000217429:p.Leu34Val	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	29	6	0.206897	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471206	0.43942	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12255	2.7	5.48	-0.0886	0.13672	.	6.575320	0.00481	N	0.000125	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	B;B	0.31548	0.22;0.328	B;B	0.31101	0.058;0.124	T	0.22836	-1.0205	10	0.19590	T	0.45	.	5.1809	0.15160	0.2481:0.5461:0.0:0.2058	.	4;4	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	V	34;4	ENSP00000217429:L34V	ENSP00000217429:L34V	L	+	1	2	FAM83D	36988509	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.197000	0.17197	0.029000	0.15352	0.655000	0.94253	CTG	.	.	none		0.672	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			G	37555095	C	G	37555095	3	3	16	1	0	0	0	0	1	0	0	0	5636	796	28	4	102	4	FAM83D	20	37555095	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	3012990	37555095	25470425	261	4226										
SEMG2	6407	hgsc.bcm.edu	37	chr20	43851631	43851631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcaaaaccaggtaacaattcCtagtcaagatcaagagcatg	7	9	3	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:43851631C>A	ENST00000372769.3	+	2	1448	c.1358C>A	c.(1357-1359)cCt>cAt	p.P453H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	453	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.P453H(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GTAACAATTCCTAGTCAAGAT	0.393																																					p.P453H		Atlas-SNP	.											SEMG2,NS,carcinoma,0,1	SEMG2	92	1	1	Substitution - Missense(1)	prostate(1)	c.C1358A						scavenged	.						79	77	77					20																	43851631		2203	4300	6503	SO:0001583	missense	6407	exon2			CAATTCCTAGTCA		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1358C>A	20.37:g.43851631C>A	ENSP00000361855:p.Pro453His	Somatic	92	1	0.0108696		WXS	Illumina HiSeq	Phase_I	131	2	0.0152672	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	9.336	1.061813	0.19987	.	.	ENSG00000124157	ENST00000372769	T	0.12147	2.71	1.38	-2.41	0.06562	.	.	.	.	.	T	0.27205	0.0667	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.983	T	0.12502	-1.0545	9	0.44086	T	0.13	.	1.9378	0.03340	0.2658:0.3235:0.0:0.4107	.	453;453	A8K6Z6;Q02383	.;SEMG2_HUMAN	H	453	ENSP00000361855:P453H	ENSP00000361855:P453H	P	+	2	0	SEMG2	43285045	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	0.648000	0.24828	-0.814000	0.04352	-0.136000	0.14681	CCT	.	.	none		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43851631	C	A	43851631	3	1	16	1	0	0	0	0	1	0	0	0	14045	681	24	4	1364	4	SEMG2	20	43851631	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	6296536	43851631	19173889	262	4227										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46279827	46279827	+	Silent	SNP	G	G	A													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	atgatgatgcagcagcagcaGcagcagcaacagcagcagca					rs6018623	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:46279827G>A	ENST00000371998.3	+	20	3944	c.3753G>A	c.(3751-3753)caG>caA	p.Q1251Q	NCOA3_ENST00000372004.3_Silent_p.Q1247Q|NCOA3_ENST00000341724.6_Silent_p.Q1177Q|NCOA3_ENST00000371997.3_Silent_p.Q1242Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1251	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcagcaac	0.552													G|||	876	0.17492	0.1906	0.1571	5008	,	,		14950	0.1617		0.1928	False		,,,				2504	0.1616				p.Q1251Q		Atlas-SNP	.											.	NCOA3	156	.	0			c.G3753A						PASS	.	G	,,,	850,3556	326.4+/-299.6	85,680,1438	49	55	53		3750,3726,3741,3753	4.4	1	20	dbSNP_114	53	959,7641	191.8+/-238.0	90,779,3431	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	175,1459,4869	AA,AG,GG		11.1512,19.2919,13.909	,,,	1250/1424,1242/1416,1247/1421,1251/1425	46279827	1809,11197	2203	4300	6503	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAGCAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3753G>A	20.37:g.46279827G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	78	24	0.307692	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			G|0.861;A|0.139	0.139	strong		0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279827	G	A	46279827	2	1	16	1	0	0	0	0	0	0	0	1	10230	962	34	2		2	NCOA3	20	46279827	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	2428196	46279827	16745693	263	4228	74	2								
NCOA3	8202	hgsc.bcm.edu	37	chr20	46279836	46279836	+	Silent	SNP	A	A	G													0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagca					rs2664522|rs147879509|rs397778717|rs3830809		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:46279836A>G	ENST00000371998.3	+	20	3953	c.3762A>G	c.(3760-3762)caA>caG	p.Q1254Q	NCOA3_ENST00000372004.3_Silent_p.Q1250Q|NCOA3_ENST00000341724.6_Silent_p.Q1180Q|NCOA3_ENST00000371997.3_Silent_p.Q1245Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1254	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcaacagcagcagc	0.552																																					p.Q1254Q		Atlas-SNP	.											NCOA3,NS,carcinoma,0,1	NCOA3	156	1	0			c.A3762G						scavenged	.						45	52	50					20																	46279836		2201	4299	6500	SO:0001819	synonymous_variant	8202	exon20			GCAGCAACAGCAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3762A>G	20.37:g.46279836A>G		Somatic	74	2	0.027027		WXS	Illumina HiSeq	Phase_I	71	12	0.169014	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.	.	weak		0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46279836	A	G	46279836	2	3	16	1	0	0	0	0	0	0	0	1	10230	40	2	2		2	NCOA3	20	46279836	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	9	46279836	16745684	264	4229	74	2								
C20orf107	388799	hgsc.bcm.edu	37	chr20	55108530	55108530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gtggagagcactttcggattCggcagaacctaccagagcac	12	11	0	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:55108530C>T	ENST00000371325.1	+	1	229	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	45						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CTTTCGGATTCGGCAGAACCT	0.522																																					p.R45W		Atlas-SNP	.											C20orf107,NS,carcinoma,-1,1	.	.	1	0			c.C133T						scavenged	.						171	143	153					20																	55108530		2203	4300	6503	SO:0001583	missense	388799	exon1			CGGATTCGGCAGA	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.133C>T	20.37:g.55108530C>T	ENSP00000360376:p.Arg45Trp	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	223	3	0.0134529	NM_001013646	Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	C	7.205	0.594337	0.13875	.	.	ENSG00000213714	ENST00000371325	T	0.14766	2.48	2.8	-1.6	0.08426	.	0.000000	0.49916	D	0.000132	T	0.26122	0.0637	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04708	-1.0932	10	0.52906	T	0.07	-36.4962	8.8173	0.35004	0.3654:0.6346:0.0:0.0	.	45	Q5JX69	CT107_HUMAN	W	45	ENSP00000360376:R45W	ENSP00000360376:R45W	R	+	1	2	C20orf107	54541937	0.025000	0.19082	0.003000	0.11579	0.025000	0.11179	-0.105000	0.10907	-0.526000	0.06383	-0.782000	0.03352	CGG	.	.	none		0.522	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			T	55108530	C	T	55108530	3	4	16	1	0	0	0	0	1	0	0	0	2077	875	31	1	135	1	C20orf107	20	55108530	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	8828694	55108530	7916990	265	4230										
C20orf151	140893	hgsc.bcm.edu	37	chr20	60992303	60992303	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttctccagcacccgcaggttCtccttcagtgtcttctgctg	8	15	5	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:60992303C>T	ENST00000252998.1	-	4	333	c.177G>A	c.(175-177)gaG>gaA	p.E59E		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	59						extracellular space (GO:0005615)											CCCGCAGGTTCTCCTTCAGTG	0.627																																					p.E59E		Atlas-SNP	.											C20orf151,NS,carcinoma,0,1	.	.	1	0			c.G177A						scavenged	.						103	72	82					20																	60992303		2202	4297	6499	SO:0001819	synonymous_variant	140893	exon4			CAGGTTCTCCTTC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.177G>A	20.37:g.60992303C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	99	3	0.030303	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																			.	.	none		0.627	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		T	60992303	C	T	60992303	2	4	16	1	0	0	0	0	0	0	0	1	2091	912	32	2		2	C20orf151	20	60992303	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	5883773	60992303	2033217	266	4231										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61511760	61511760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctggaactccctcttctcccCatggggatccttgcgttctt	8	15	3	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr20:61511760C>T	ENST00000266070.4	-	16	5873	c.5548G>A	c.(5548-5550)Ggg>Agg	p.G1850R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1850R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1850	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCTTCTCCCCATGGGGATCC	0.607																																					p.G1850R	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											DIDO1,NS,carcinoma,0,2	DIDO1	321	2	0			c.G5548A						scavenged	.						58	62	61					20																	61511760		2203	4295	6498	SO:0001583	missense	11083	exon16			TCTCCCCATGGGG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5548G>A	20.37:g.61511760C>T	ENSP00000266070:p.Gly1850Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856353	0.51376	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09255	3.0;3.0	4.97	4.97	0.65823	.	0.000000	0.43747	D	0.000530	T	0.17280	0.0415	L	0.57536	1.79	0.80722	D	1	D	0.54964	0.969	P	0.51806	0.68	T	0.00525	-1.1689	10	0.49607	T	0.09	-36.8057	7.3758	0.26827	0.168:0.7401:0.0:0.0919	.	1850	Q9BTC0	DIDO1_HUMAN	R	1850	ENSP00000266070:G1850R;ENSP00000378752:G1850R	ENSP00000266070:G1850R	G	-	1	0	DIDO1	60982205	0.996000	0.38824	0.622000	0.29159	0.375000	0.29983	3.566000	0.53805	2.270000	0.75569	0.561000	0.74099	GGG	.	.	none		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61511760	C	T	61511760	3	4	16	1	0	0	0	0	1	0	0	0	4522	594	21	2	1178	2	DIDO1	20	61511760	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	519457	61511760	1513760	267	4232										
CYYR1	116159	hgsc.bcm.edu	37	chr21	27945186	27945186	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccgccgccctccgtcactgaCctgcgtagacaaagagcagg	11	16	1	3	rs576125420		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr21:27945186C>T	ENST00000299340.4	-	1	417		c.e1+1		CYYR1_ENST00000435845.2_Splice_Site|CYYR1_ENST00000400043.3_Splice_Site	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1							integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CCGTCACTGACCTGCGTAGAC	0.662																																					.		Atlas-SNP	.											.	CYYR1	38	.	0			c.73+1G>A						PASS	.						58	58	58					21																	27945186		2203	4299	6502	SO:0001630	splice_region_variant	116159	exon2			CACTGACCTGCGT	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.73+1G>A	21.37:g.27945186C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	104	20	0.192308	NM_052954	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Splice_Site	SNP	ENST00000299340.4	37	CCDS13578.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919627	0.73098	.	.	ENSG00000166265	ENST00000299340;ENST00000435845;ENST00000400043	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.227	0.59921	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYYR1	26867057	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.229000	0.51278	2.835000	0.97688	0.650000	0.86243	.	.	.	none		0.662	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954	Intron	T	27945186	C	T	27945186	5	4	16	1	0	0	0	0	0	0	1	0	4211	521	18	2	406	2	CYYR1	21	27945186	Splice_Site	SNP	C	TCGA-FF-8062-01A-11D-2210-10		27945186	20184709	268	4233										
DSCR4	10281	hgsc.bcm.edu	37	chr21	39493346	39493346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tctcgtcaagatgattaacgAcatggacacacatgggtgag	11	8	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr21:39493346A>G	ENST00000328264.3	-	1	108	c.4T>C	c.(4-6)Tcg>Ccg	p.S2P	DSCR4_ENST00000398948.1_Missense_Mutation_p.S2P|DSCR8_ENST00000400477.3_5'Flank|DSCR8_ENST00000357704.4_5'Flank	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	2										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						atgattaacgacatggacaca	0.498																																					p.S2P		Atlas-SNP	.											.	DSCR4	20	.	0			c.T4C						PASS	.						95	84	88					21																	39493346		2203	4300	6503	SO:0001583	missense	10281	exon1			TTAACGACATGGA	AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.4T>C	21.37:g.39493346A>G	ENSP00000328676:p.Ser2Pro	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	58	15	0.258621	NM_005867	Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	A	6.972	0.549360	0.13374	.	.	ENSG00000184029	ENST00000398948;ENST00000328264	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.09310	N	1	P	0.51449	0.945	P	0.57425	0.82	T	0.40156	-0.9578	6	0.87932	D	0	.	.	.	.	.	2	P56555	DSCR4_HUMAN	P	2	.	ENSP00000328676:S2P	S	-	1	0	DSCR4	38415216	0.003000	0.15002	0.015000	0.15790	0.015000	0.08874	-0.597000	0.05713	0.263000	0.21812	0.260000	0.18958	TCG	.	.	none		0.498	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		G	39493346	A	G	39493346	3	3	16	1	0	0	0	0	1	0	0	0	4772	275	10	2	364	2	DSCR4	21	39493346	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	11548160	39493346	8636549	269	4234										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230348	23230348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccatggtcgcccatggcctgCtgcgcccaatggttgcaccg	12	16	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:23230348C>T	ENST00000526893.1	+	1	389	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IGLL5_ENST00000531372.1_Silent_p.L39L|IGLL5_ENST00000532223.2_Silent_p.L39L|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	39						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCATGGCCTGCTGCGCCCAAT	0.687																																					p.L39L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C115T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GGCCTGCTGCGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.115C>T	22.37:g.23230348C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	118	5	0.0423729	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.687	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230348	C	T	23230348	2	4	16	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230348	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10		23230348	28074218	270	4235										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230365	23230365	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ctgctgcgcccaatggttgcAccgcaaagcggggacccaga	13	14	0	1	rs559053132	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:23230365A>T	ENST00000526893.1	+	1	406	c.132A>T	c.(130-132)gcA>gcT	p.A44A	IGLL5_ENST00000531372.1_Silent_p.A44A|IGLL5_ENST00000532223.2_Silent_p.A44A|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	44						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CAATGGTTGCACCGCAAAGCG	0.677																																					p.H9L		Atlas-SNP	.											.	IGLL5	26	.	0			c.A26T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GGTTGCACCGCAA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.132A>T	22.37:g.23230365A>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	114	28	0.245614	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.677	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230365	A	T	23230365	2	4	16	1	0	0	0	0	0	0	0	1	7594	146	6	5		5	IGLL5	22	23230365	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	17	23230365	28074201	271	4236										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122289	38122289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gacctagcgttcctggcaccCtcaccttcaccgggcagctc	9	18	2	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:38122289C>T	ENST00000406386.3	+	7	3981	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1242					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTGGCACCCTCACCTTCAC	0.701																																					p.P1242P		Atlas-SNP	.											.	TRIOBP	262	.	0			c.C3726T						PASS	.						27	35	32					22																	38122289		1912	4097	6009	SO:0001819	synonymous_variant	11078	exon7			GGCACCCTCACCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3726C>T	22.37:g.38122289C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																			.	.	none		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38122289	C	T	38122289	2	4	16	1	0	0	0	0	0	0	0	1	16550	668	24	2		2	TRIOBP	22	38122289	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	14891924	38122289	13182277	272	4237										
ARHGAP8	23779	hgsc.bcm.edu	37	chr22	45221390	45221390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gagaagctccagagcctgcaCgagggccggacgccgcctcc	14	16	0	2	rs368897846		TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:45221390C>T	ENST00000389774.2	+	8	747	c.606C>T	c.(604-606)caC>caT	p.H202H	ARHGAP8_ENST00000389773.5_Silent_p.H293H|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.H381H|ARHGAP8_ENST00000517296.3_Silent_p.H381H|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.H302H|ARHGAP8_ENST00000356099.6_Silent_p.H171H|ARHGAP8_ENST00000336963.4_Silent_p.H171H	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	202					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.H202Q(1)|p.H207Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGAGCCTGCACGAGGGCCGGA	0.662																																					p.H293H		Atlas-SNP	.											PRR5-ARHGAP8,NS,carcinoma,0,2	PRR5-ARHGAP8	53	2	2	Substitution - Missense(2)	lung(2)	c.C879T						PASS	.	C	,,,	0,4404		0,0,2202	35	37	36		606,513,879,513	1	0	22		36	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	,,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,,	202/465,171/306,293/556,171/434	45221390	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	553158	exon10			CCTGCACGAGGGC	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.606C>T	22.37:g.45221390C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	99	18	0.181818	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	c	4.721	0.134002	0.09032	0.0	1.16E-4	ENSG00000248405	ENST00000515632	.	.	.	4.46	1.03	0.20045	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	8.4748	0.33007	0.3768:0.4931:0.1301:0.0	.	.	.	.	M	225	.	.	T	+	2	0	PRR5-ARHGAP8	43600054	0.233000	0.23772	0.026000	0.17262	0.101000	0.19017	0.419000	0.21247	1.055000	0.40461	0.556000	0.70494	ACG	.	.	weak		0.662	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		T	45221390	C	T	45221390	2	4	16	1	0	0	0	0	0	0	0	1	888	535	19	1		1	ARHGAP8	22	45221390	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	7099101	45221390	6083176	273	4238										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50728063	50728063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tccatcttggcgtgcaccttGtccagcgggaacaggcagag	13	12	1	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:50728063G>A	ENST00000449103.1	-	3	1091	c.951C>T	c.(949-951)gaC>gaT	p.D317D	PLXNB2_ENST00000359337.4_Silent_p.D317D			O15031	PLXB2_HUMAN	plexin B2	317	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGCACCTTGTCCAGCGGGA	0.642																																					p.D317D		Atlas-SNP	.											.	PLXNB2	172	.	0			c.C951T						PASS	.						42	51	48					22																	50728063		1949	4160	6109	SO:0001819	synonymous_variant	23654	exon3			CACCTTGTCCAGC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.951C>T	22.37:g.50728063G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	42	10	0.238095	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																			.	.	none		0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50728063	G	A	50728063	2	1	16	1	0	0	0	0	0	0	0	1	12124	1368	48	2		2	PLXNB2	22	50728063	Silent	SNP	G	TCGA-FF-8062-01A-11D-2210-10	5506673	50728063	576503	274	4239										
ADM2	79924	hgsc.bcm.edu	37	chr22	50921164	50921164	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	cgccaacactcgggcccccgAagacactcgggcccccgcag	11	20	0	1	rs72438078|rs3840963	byFrequency	TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chr22:50921164A>C	ENST00000395738.2	+	2	571	c.279A>C	c.(277-279)cgA>cgC	p.R93R	ADM2_ENST00000395737.1_Silent_p.R93R|ADM2_ENST00000362068.2_Missense_Mutation_p.E10A	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	93					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.H95_R100delHSGPRR(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGCCCCCGAAGACACTCGG	0.697																																					p.R93R		Atlas-SNP	.											ADM2,rectum,carcinoma,0,2	ADM2	15	2	1	Deletion - In frame(1)	breast(1)	c.A279C						PASS	.																																			SO:0001819	synonymous_variant	79924	exon2			CCCCCGAAGACAC	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"Endogenous ligands"	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.279A>C	22.37:g.50921164A>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	36	10	0.277778	NM_024866	Q3LFQ0	Silent	SNP	ENST00000395738.2	37	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058801	0.55325	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.21	-5.89	0.02282	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35151	-0.9800	5	0.08381	T	0.77	.	0.8616	0.01194	0.2188:0.3176:0.2553:0.2083	.	.	.	.	A	10	.	ENSP00000354955:E10A	E	+	2	0	ADM2	49268030	0.000000	0.05858	0.002000	0.10522	0.479000	0.33129	-1.143000	0.03200	-0.430000	0.07318	0.368000	0.22195	GAA	.	.	none		0.697	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		C	50921164	A	C	50921164	2	2	16	1	0	0	0	0	0	0	0	1	322	233	9	5		5	ADM2	22	50921164	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	193101	50921164	383402	275	4240										
TMSB4X	7114	hgsc.bcm.edu	37	chrX	12994912	12994912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acagcgattgaacaggagaaGcaagcaggcgaatcgtaatg	13	7	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:12994912G>C	ENST00000380635.1	+	3	333	c.117G>C	c.(115-117)aaG>aaC	p.K39N	TMSB4X_ENST00000380633.1_Missense_Mutation_p.K39N|TMSB4X_ENST00000380636.1_Missense_Mutation_p.K39N|TMSB4X_ENST00000451311.2_Missense_Mutation_p.K39N			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	39					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						AACAGGAGAAGCAAGCAGGCG	0.393																																					p.K39N		Atlas-SNP	.											.	TMSB4X	3	.	0			c.G117C						PASS	.						56	60	59					X																	12994912		2187	4236	6423	SO:0001583	missense	7114	exon3			GGAGAAGCAAGCA		CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.117G>C	X.37:g.12994912G>C	ENSP00000370009:p.Lys39Asn	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	81	15	0.185185	NM_021109	P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	ENST00000380635.1	37	CCDS35202.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598583	0.46318	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.8	4.8	0.61643	.	0.082982	0.46145	U	0.000307	T	0.72590	0.3479	.	.	.	0.39812	D	0.972719	P	0.44260	0.83	P	0.53062	0.717	T	0.76729	-0.2852	9	0.87932	D	0	-4.3082	8.5344	0.33355	0.1781:0.0:0.8219:0.0	.	39	P62328	TYB4_HUMAN	N	39	ENSP00000414376:K39N;ENSP00000370010:K39N;ENSP00000370009:K39N;ENSP00000370007:K39N	ENSP00000370007:K39N	K	+	3	2	TMSB4X	12904833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.475000	0.66787	2.129000	0.65627	0.600000	0.82982	AAG	.	.	none		0.393	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055779.1	NM_021109		C	12994912	G	C	12994912	3	2	16	1	0	0	0	0	1	0	0	0	16254	962	34	4	123	4	TMSB4X	23	12994912	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10		12994912	142275648	276	4241										
ZFX	7543	hgsc.bcm.edu	37	chrX	24229366	24229366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	agatgcctcaggctttaaacGgcacgttatttccattcaca	7	11	2	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:24229366G>A	ENST00000379177.1	+	11	2718	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q	ZFX_ENST00000338565.3_Missense_Mutation_p.R714Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R803Q|ZFX_ENST00000539115.1_Missense_Mutation_p.R535Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R764Q|ZFX_ENST00000379188.3_Missense_Mutation_p.R764Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	764					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGCTTTAAACGGCACGTTATT	0.448																																					p.R764Q	Esophageal Squamous(20;306 562 7346 32868 37983)	Atlas-SNP	.											.	ZFX	61	.	0			c.G2291A						PASS	.						178	149	158					X																	24229366		2203	4300	6503	SO:0001583	missense	7543	exon10			TTAAACGGCACGT		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2291G>A	X.37:g.24229366G>A	ENSP00000368475:p.Arg764Gln	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	240	53	0.220833	NM_003410	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961282	0.74016	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.36771	0.0979	L	0.48362	1.52	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.993	T	0.03433	-1.1037	10	0.42905	T	0.14	-6.7851	18.0792	0.89437	0.0:0.0:1.0:0.0	.	803;486;764	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	Q	535;764;486;764;764;803;714	ENSP00000438233:R535Q;ENSP00000368486:R764Q;ENSP00000368475:R764Q;ENSP00000304985:R764Q;ENSP00000441382:R803Q;ENSP00000343384:R714Q	ENSP00000304985:R764Q	R	+	2	0	ZFX	24139287	1.000000	0.71417	0.924000	0.36721	0.948000	0.59901	9.813000	0.99286	2.291000	0.77112	0.594000	0.82650	CGG	.	.	none		0.448	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		A	24229366	G	A	24229366	3	1	16	1	0	0	0	0	1	0	0	0	17658	1116	39	1	2376	1	ZFX	23	24229366	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	11234454	24229366	131041194	277	4242										
DDX3X	1654	hgsc.bcm.edu	37	chrX	41206198	41206198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ttgaagctaaacaagaagtgCcgtcttggttagaaaacatg	10	6	1	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:41206198C>T	ENST00000399959.2	+	15	2557	c.1702C>T	c.(1702-1704)Ccg>Tcg	p.P568S	DDX3X_ENST00000457138.2_Missense_Mutation_p.P552S|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	568	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ACAAGAAGTGCCGTCTTGGTT	0.403										HNSCC(61;0.18)																											p.P568S		Atlas-SNP	.											.	DDX3X	138	.	0			c.C1702T						PASS	.						93	90	91					X																	41206198		2172	4275	6447	SO:0001583	missense	1654	exon15			GAAGTGCCGTCTT	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1702C>T	X.37:g.41206198C>T	ENSP00000382840:p.Pro568Ser	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	241	15	0.0622407	NM_001193416	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782891	0.90282	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.27402	1.67;1.69	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.76002	2.32	0.80722	D	1	B;D;D;D	0.89917	0.002;1.0;1.0;1.0	B;D;D;D	0.97110	0.0;0.936;1.0;1.0	T	0.63404	-0.6645	10	0.87932	D	0	-8.1884	18.0954	0.89488	0.0:1.0:0.0:0.0	.	438;552;580;568	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	S	568;552	ENSP00000382840:P568S;ENSP00000392494:P552S	ENSP00000382840:P568S	P	+	1	0	DDX3X	41091142	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.773000	0.85462	2.209000	0.71365	0.529000	0.55759	CCG	.	.	none		0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		T	41206198	C	T	41206198	3	4	16	1	0	0	0	0	1	0	0	0	4358	739	26	2	1760	2	DDX3X	23	41206198	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	16976832	41206198	114064362	278	4243										
ALAS2	212	hgsc.bcm.edu	37	chrX	55041425	55041425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	acgggtgctggcaatgtagcCgcccacacagccaaaggcct	12	14	0	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:55041425C>T	ENST00000330807.5	-	9	1329	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	ALAS2_ENST00000335854.4_Missense_Mutation_p.G361S|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.G385S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	398					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCAATGTAGCCGCCCACACAG	0.532																																					p.G398S		Atlas-SNP	.											.	ALAS2	163	.	0			c.G1192A						PASS	.						32	31	32					X																	55041425		2203	4300	6503	SO:0001583	missense	212	exon9			TGTAGCCGCCCAC		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1192G>A	X.37:g.55041425C>T	ENSP00000332369:p.Gly398Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	109	17	0.155963	NM_000032	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630705	0.87660	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.98684	-5.07;-5.07;-5.07	5.64	5.64	0.86602	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.093208	0.64402	D	0.000001	D	0.99501	0.9822	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.995;0.997	D	0.98150	1.0441	10	0.87932	D	0	-10.8077	17.643	0.88142	0.0:1.0:0.0:0.0	.	361;385;398	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	S	398;385;361	ENSP00000332369:G398S;ENSP00000379501:G385S;ENSP00000337131:G361S	ENSP00000332369:G398S	G	-	1	0	ALAS2	55058150	1.000000	0.71417	0.910000	0.35882	0.622000	0.37654	7.818000	0.86416	2.524000	0.85096	0.600000	0.82982	GGC	.	.	none		0.532	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		T	55041425	C	T	55041425	3	4	16	1	0	0	0	0	1	0	0	0	485	652	23	1	583	1	ALAS2	23	55041425	Missense_Mutation	SNP	C	TCGA-FF-8062-01A-11D-2210-10	13835227	55041425	100229135	279	4244										
FAM123B	139285	hgsc.bcm.edu	37	chrX	63411917	63411917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	ccaggttcatattgggccgtGgatacatttgggcagtttcc	12	9	1	0			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:63411917G>A	ENST00000330258.3	-	2	1522	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	AMER1_ENST00000374869.3_Missense_Mutation_p.P417L|AMER1_ENST00000403336.1_Missense_Mutation_p.P417L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	417					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ATTGGGCCGTGGATACATTTG	0.517																																					p.P417L		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.C1250T						PASS	.						219	200	207					X																	63411917		2203	4300	6503	SO:0001583	missense	139285	exon2			GGCCGTGGATACA	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1250C>T	X.37:g.63411917G>A	ENSP00000329117:p.Pro417Leu	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	190	35	0.184211	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	0.352	-0.944210	0.02322	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.29917	1.55;1.55;1.55	4.64	2.68	0.31781	.	0.510469	0.18585	N	0.136891	T	0.25306	0.0615	L	0.46157	1.445	0.27490	N	0.952304	B	0.10296	0.003	B	0.14578	0.011	T	0.16453	-1.0402	10	0.44086	T	0.13	-0.1509	8.3007	0.32012	0.2172:0.0:0.7828:0.0	.	417	Q5JTC6	F123B_HUMAN	L	417	ENSP00000364003:P417L;ENSP00000329117:P417L;ENSP00000384722:P417L	ENSP00000329117:P417L	P	-	2	0	FAM123B	63328642	0.138000	0.22547	0.195000	0.23364	0.065000	0.16274	1.140000	0.31516	0.559000	0.29153	0.600000	0.82982	CCA	.	.	none		0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63411917	G	A	63411917	3	1	16	1	0	0	0	0	1	0	0	0	5423	1348	47	2	2161	2	FAM123B	23	63411917	Missense_Mutation	SNP	G	TCGA-FF-8062-01A-11D-2210-10	8370492	63411917	91858643	280	4245										
IRS4	8471	hgsc.bcm.edu	37	chrX	107976167	107976167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	gctgcggcgagcgcggaggcCgcagctacaacttggctgag	17	12	0	1			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:107976167C>T	ENST00000372129.2	-	1	3484	c.3408G>A	c.(3406-3408)gcG>gcA	p.A1136A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1136	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGCGGAGGCCGCAGCTACAA	0.642																																					p.A1136A		Atlas-SNP	.											.	IRS4	253	.	0			c.G3408A						PASS	.						30	35	34					X																	107976167		2196	4283	6479	SO:0001819	synonymous_variant	8471	exon1			GGAGGCCGCAGCT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3408G>A	X.37:g.107976167C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			.	.	none		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107976167	C	T	107976167	2	4	16	1	0	0	0	0	0	0	0	1	7842	639	23	1		1	IRS4	23	107976167	Silent	SNP	C	TCGA-FF-8062-01A-11D-2210-10	44564250	107976167	47294393	281	4246										
ODZ1	10178	hgsc.bcm.edu	37	chrX	123870854	123870854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	aggacccagctgttatgcagAtggactgaatcctgcgtgct	12	10	0	2			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:123870854A>G	ENST00000371130.3	-	4	792	c.729T>C	c.(727-729)caT>caC	p.H243H	TENM1_ENST00000422452.2_Silent_p.H243H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	243	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTATGCAGATGGACTGAAT	0.532																																					p.H243H		Atlas-SNP	.											.	.	.	.	0			c.T729C						PASS	.						178	161	166					X																	123870854		2203	4300	6503	SO:0001819	synonymous_variant	10178	exon4			ATGCAGATGGACT	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.729T>C	X.37:g.123870854A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	86	14	0.162791	NM_001163278	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																			.	.	none		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123870854	A	G	123870854	2	3	16	1	0	0	0	0	0	0	0	1	10834	330	12	2		2	ODZ1	23	123870854	Silent	SNP	A	TCGA-FF-8062-01A-11D-2210-10	15894687	123870854	31399706	282	4247										
MAGEC1	9947	hgsc.bcm.edu	37	chrX	140995472	140995472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.036101083032491	10	1	0.471239592578505	1.45789748953975	0.365289751294076	0.252412503425707	0.517445632022699	0	tcttccccagagtttccctgAgagtcctcagagtcctcctg	8	15	2	3			TCGA-FF-8062-01A-11D-2210-10	TCGA-FF-8062-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bd403458-5154-488b-931a-a7e737a6bf8c	1edee53e-5b0f-44c1-93e4-ad0778e1e147	g.chrX:140995472A>G	ENST00000285879.4	+	4	2568	c.2282A>G	c.(2281-2283)gAg>gGg	p.E761G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTCCCTGAGAGTCCTCAG	0.542										HNSCC(15;0.026)																											p.E761G		Atlas-SNP	.											.	MAGEC1	317	.	0			c.A2282G						PASS	.						129	141	137					X																	140995472		2203	4300	6503	SO:0001583	missense	9947	exon4			TCCCTGAGAGTCC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2282A>G	X.37:g.140995472A>G	ENSP00000285879:p.Glu761Gly	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	82	12	0.146341	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	8.918	0.960479	0.18583	.	.	ENSG00000155495	ENST00000285879	T	0.02552	4.25	1.2	-2.4	0.06583	.	.	.	.	.	T	0.02380	0.0073	N	0.24115	0.695	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.39375	-0.9617	9	0.72032	D	0.01	.	1.9049	0.03275	0.2872:0.2437:0.0:0.4691	.	761	O60732	MAGC1_HUMAN	G	761	ENSP00000285879:E761G	ENSP00000285879:E761G	E	+	2	0	MAGEC1	140823138	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.560000	0.05964	-0.662000	0.05338	0.235000	0.17854	GAG	.	.	none		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140995472	A	G	140995472	3	3	16	1	0	0	0	0	1	0	0	0	9180	304	11	3	2288	3	MAGEC1	23	140995472	Missense_Mutation	SNP	A	TCGA-FF-8062-01A-11D-2210-10	17124618	140995472	14275088	283	4248										
MMEL1	79258	hgsc.bcm.edu	37	chr1	2527447	2527447	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tgacctctgcgagccacataCcttctcctgcgccttcttct	6	17	4	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:2527447C>A	ENST00000378412.3	-	15	1662		c.e15+1		MMEL1_ENST00000288709.6_Splice_Site|MMEL1_ENST00000502556.1_Splice_Site			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1							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)		GAGCCACATACCTTCTCCTGC	0.632																																					.		Atlas-SNP	.											.	MMEL1	64	.	0			c.1500+1G>T						PASS	.						202	163	176					1																	2527447		2203	4300	6503	SO:0001630	splice_region_variant	79258	exon16			CACATACCTTCTC	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.1500+1G>T	1.37:g.2527447C>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	109	28	0.256881	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Splice_Site	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754525	0.49362	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7647	0.88475	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMEL1	2517307	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	7.444000	0.80532	2.606000	0.88127	0.655000	0.94253	.	.	.	none		0.632	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	Intron	A	2527447	C	A	2527447	5	1	17	1	0	0	0	0	0	0	1	0	9646	521	18	4	878	4	MMEL1	1	2527447	Splice_Site	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		2527447	246723174	1	4249										
PER3	8863	hgsc.bcm.edu	37	chr1	7890024	7890024	+	Missense_Mutation	SNP	T	T	G													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtccacaggatcgcctcccaTgaagaatccatcccatccta					rs201662971|rs57875989		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:7890024T>G	ENST00000361923.2	+	18	3165	c.2990T>G	c.(2989-2991)aTg>aGg	p.M997R	PER3_ENST00000377532.3_Missense_Mutation_p.M1006R|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	997	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.M997R(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCTCCCATGAAGAATCCA	0.582																																					p.M997R		Atlas-SNP	.											PER3,NS,carcinoma,0,3	PER3	95	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.T2990G						scavenged	.						85	70	75					1																	7890024		2001	3894	5895	SO:0001583	missense	8863	exon18			CTCCCATGAAGAA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2990T>G	1.37:g.7890024T>G	ENSP00000355031:p.Met997Arg	Somatic	118	2	0.0169492		WXS	Illumina HiSeq	Phase_I	104	5	0.0480769	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.321421	0.01320	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14640	2.49;2.49	.	.	.	Period circadian-like, C-terminal (1);	31.945600	0.01768	N	0.031022	T	0.04861	0.0131	N	0.04508	-0.205	0.09310	N	1	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	0.25152	-1.0140	8	0.11485	T	0.65	.	.	.	.	.	997;1006;1006;997	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	R	1006;997	ENSP00000366755:M1006R;ENSP00000355031:M997R	ENSP00000355031:M997R	M	+	2	0	PER3	7812611	0.004000	0.15560	0.012000	0.15200	0.013000	0.08279	-1.043000	0.03535	-1.402000	0.02056	-1.459000	0.01027	ATG	.	.	weak		0.582	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890024	T	G	7890024	3	3	17	1	0	0	0	0	1	0	0	0	11731	1464	51	5	3060	5	PER3	1	7890024	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	5362577	7890024	241360597	2	4250	75	2								
PER3	8863	hgsc.bcm.edu	37	chr1	7890026	7890026	+	Missense_Mutation	SNP	A	A	G													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccacaggatcgcctcccatgAagaatccatcccatcctact					rs199947375|rs57875989		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:7890026A>G	ENST00000361923.2	+	18	3167	c.2992A>G	c.(2992-2994)Aag>Gag	p.K998E	PER3_ENST00000377532.3_Missense_Mutation_p.K1007E|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	998	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.K998E(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCATGAAGAATCCATC	0.587																																					p.K998E		Atlas-SNP	.											PER3,NS,carcinoma,0,4	PER3	95	4	1	Substitution - Missense(1)	central_nervous_system(1)	c.A2992G						scavenged	.						84	69	74					1																	7890026		1999	3897	5896	SO:0001583	missense	8863	exon18			CCCATGAAGAATC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2992A>G	1.37:g.7890026A>G	ENSP00000355031:p.Lys998Glu	Somatic	118	3	0.0254237		WXS	Illumina HiSeq	Phase_I	103	6	0.0582524	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.434686	0.00182	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.13538	2.58;2.58	.	.	.	Period circadian-like, C-terminal (1);	5.912170	0.01354	N	0.012011	T	0.04724	0.0128	N	0.04508	-0.205	0.09310	N	1	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	0.26503	-1.0101	8	0.02654	T	1	.	.	.	.	.	998;1007;1007;998	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	E	1007;998	ENSP00000366755:K1007E;ENSP00000355031:K998E	ENSP00000355031:K998E	K	+	1	0	PER3	7812613	0.002000	0.14202	0.013000	0.15412	0.014000	0.08584	-0.844000	0.04345	-0.911000	0.03843	-0.891000	0.02926	AAG	.	.	weak		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890026	A	G	7890026	3	3	17	1	0	0	0	0	1	0	0	0	11731	247	9	2	3062	2	PER3	1	7890026	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	2	7890026	241360595	3	4251	75	2								
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919589	12919589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggatttgcgggatgttgatgAgaatttctgggccagatggc	16	5	1	3	rs367740116	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:12919589A>G	ENST00000240189.2	+	3	416	c.329A>G	c.(328-330)gAg>gGg	p.E110G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGTTGATGAGAATTTCTGG	0.547													.|||	74	0.0147764	0.003	0.0461	5008	,	,		20210	0.0159		0.0159	False		,,,				2504	0.0061				p.E110G		Atlas-SNP	.											PRAMEF2,NS,carcinoma,+1,1	PRAMEF2	85	1	0			c.A329G						scavenged	.						97	119	112					1																	12919589		2200	4293	6493	SO:0001583	missense	65122	exon3			TTGATGAGAATTT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.329A>G	1.37:g.12919589A>G	ENSP00000240189:p.Glu110Gly	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	208	8	0.0384615	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	8.834	0.940654	0.18281	.	.	ENSG00000120952	ENST00000240189	T	0.18338	2.22	0.842	0.842	0.18927	.	1.946400	0.02597	N	0.100687	T	0.24624	0.0597	M	0.78223	2.4	0.09310	N	1	B	0.26318	0.146	B	0.31686	0.134	T	0.31052	-0.9957	10	0.45353	T	0.12	.	3.9732	0.09462	1.0:0.0:0.0:0.0	.	110	O60811	PRAM2_HUMAN	G	110	ENSP00000240189:E110G	ENSP00000240189:E110G	E	+	2	0	PRAMEF2	12842176	0.000000	0.05858	0.008000	0.14137	0.102000	0.19082	0.186000	0.16978	0.633000	0.30452	0.163000	0.16589	GAG	.	.	none		0.547	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919589	A	G	12919589	3	3	17	1	0	0	0	0	1	0	0	0	12435	304	11	3	335	3	PRAMEF2	1	12919589	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	5029563	12919589	236331032	4	4252										
TMEM54	113452	hgsc.bcm.edu	37	chr1	33363889	33363889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	accaggcctgtcttcatcagCaccttccggaagtcgcccac	8	17	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:33363889C>T	ENST00000373463.3	-	2	167	c.48G>A	c.(46-48)gtG>gtA	p.V16V	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.V16V	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	16						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCTTCATCAGCACCTTCCGGA	0.632																																					p.V16V		Atlas-SNP	.											.	TMEM54	12	.	0			c.G48A						PASS	.						92	80	84					1																	33363889		2203	4300	6503	SO:0001819	synonymous_variant	113452	exon2			CATCAGCACCTTC		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.48G>A	1.37:g.33363889C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	68	21	0.308824	NM_033504	Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	CCDS371.1																																																																																			.	.	none		0.632	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		T	33363889	C	T	33363889	2	4	17	1	0	0	0	0	0	0	0	1	16177	697	25	2		2	TMEM54	1	33363889	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	20444300	33363889	215886732	5	4253										
LRRC7	57554	hgsc.bcm.edu	37	chr1	70501838	70501838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tccagctaatgaaatgaggaTtggggaacttcacccttcat	9	9	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:70501838T>C	ENST00000035383.5	+	17	1946	c.1916T>C	c.(1915-1917)aTt>aCt	p.I639T	LRRC7_ENST00000310961.5_Missense_Mutation_p.I644T|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	639						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						GAAATGAGGATTGGGGAACTT	0.413																																					p.I639T		Atlas-SNP	.											.	LRRC7	400	.	0			c.T1916C						PASS	.						95	97	96					1																	70501838		2203	4300	6503	SO:0001583	missense	57554	exon17			TGAGGATTGGGGA		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.1916T>C	1.37:g.70501838T>C	ENSP00000035383:p.Ile639Thr	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	153	46	0.300654	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061856	0.55432	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.55052	0.54;0.63	6.06	6.06	0.98353	.	0.050444	0.85682	D	0.000000	T	0.29061	0.0722	L	0.29908	0.895	0.80722	D	1	P	0.36282	0.546	B	0.32980	0.156	T	0.25813	-1.0121	10	0.52906	T	0.07	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	639	Q96NW7	LRRC7_HUMAN	T	644;639;462	ENSP00000309245:I644T;ENSP00000035383:I639T	ENSP00000035383:I639T	I	+	2	0	LRRC7	70274426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.426000	0.66476	2.323000	0.78572	0.528000	0.53228	ATT	.	.	none		0.413	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70501838	T	C	70501838	3	2	17	1	0	0	0	0	1	0	0	0	9020	1493	52	2	1982	2	LRRC7	1	70501838	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	37137949	70501838	178748783	6	4254										
VCAM1	7412	hgsc.bcm.edu	37	chr1	101200181	101200181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gataatcctgaagaaaaaagCggagacaggagacacagtac	11	7	0	4	rs369761581		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:101200181C>T	ENST00000294728.2	+	8	2017	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	VCAM1_ENST00000370115.1_Missense_Mutation_p.A440V|VCAM1_ENST00000370119.4_Missense_Mutation_p.A577V|VCAM1_ENST00000347652.2_Missense_Mutation_p.A547V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	639	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAGAAAAAAGCGGAGACAGGA	0.418																																					p.A639V		Atlas-SNP	.											VCAM1,NS,carcinoma,0,1	VCAM1	111	1	0			c.C1916T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	82	85	84		1640,1730,1916	4	0.9	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VCAM1	NM_080682.2,NM_001199834.1,NM_001078.3	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	547/648,577/678,639/740	101200181	1,13005	2203	4300	6503	SO:0001583	missense	7412	exon8			AAAAAGCGGAGAC	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1916C>T	1.37:g.101200181C>T	ENSP00000294728:p.Ala639Val	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	165	47	0.284848	NM_001078	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237173	0.22711	0.0	1.16E-4	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.87	4.0	0.46444	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.656371	0.16226	N	0.223805	T	0.24005	0.0581	L	0.28192	0.835	0.09310	N	1	B;P;B	0.35411	0.372;0.5;0.032	B;B;B	0.30401	0.069;0.115;0.053	T	0.07309	-1.0779	10	0.59425	D	0.04	-8.8298	5.0828	0.14666	0.1619:0.6436:0.0:0.1945	.	577;547;639	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	V	577;547;639;440	ENSP00000359137:A577V;ENSP00000304611:A547V;ENSP00000294728:A639V;ENSP00000359133:A440V	ENSP00000294728:A639V	A	+	2	0	VCAM1	100972769	0.001000	0.12720	0.908000	0.35775	0.636000	0.38137	0.201000	0.17276	0.922000	0.37019	0.655000	0.94253	GCG	.	.	none		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		T	101200181	C	T	101200181	3	4	17	1	0	0	0	0	1	0	0	0	17134	768	27	1	1946	1	VCAM1	1	101200181	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	30698343	101200181	148050440	7	4255										
CD58	965	hgsc.bcm.edu	37	chr1	117087138	117087139	+	Frame_Shift_Del	DEL	CT	CT	-													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttttgttttttccataggacCtcttttaaaggcacattgct							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:117087138_117087139delCT	ENST00000369489.5	-	2	224_225	c.158_159delAG	c.(157-159)gagfs	p.E53fs	CD58_ENST00000457047.2_Frame_Shift_Del_p.E53fs|CD58_ENST00000369487.3_Frame_Shift_Del_p.E53fs	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	53	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)		TCCATAGGACCTCTTTTAAAGG	0.347																																					p.53_54del		Pindel,Atlas-Indel	.											.	CD58	40	.	0			c.159_160del						PASS	.																																			SO:0001589	frameshift_variant	965	exon2			.	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.158_159delAG	1.37:g.117087140_117087141delCT	ENSP00000358501:p.Glu53fs	Somatic	276	.	.		WXS	Illumina HiSeq	Phase_I	203	45	0.222	NM_001144822	A8K7G5|Q5U053|Q6IB65|Q96KI9	Frame_Shift_Del	DEL	ENST00000369489.5	37	CCDS888.1																																																																																			.	.	none		0.347	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		-	117087139	CT	-	117087138	7	5	17	1	0	1	0	1	0	0	0	0	3025	680	24	0	617	0	CD58	1	117087138	Frame_Shift_Del	DEL	CT	TCGA-FF-A7CQ-01A-11D-A382-10	15886957	117087138	132163483	8	4256										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299809	145299809	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tccagcgagaaggcagagatGaacattctagaaatcaatga	10	7	2	5	rs61814630	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:145299809G>A	ENST00000369338.1	+	2	235	c.45G>A	c.(43-45)atG>atA	p.M15I	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.M286I|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	286						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.M15I(1)|p.M286I(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGCAGAGATGAACATTCTAG	0.502													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		41767	0.0635		0.0487	False		,,,				2504	0.0491				p.M286I		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,3	NBPF10	221	3	2	Substitution - Missense(2)	skin(2)	c.G858A						scavenged	.																																			SO:0001583	missense	100132406	exon6			AGAGATGAACATT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.45G>A	1.37:g.145299809G>A	ENSP00000358344:p.Met15Ile	Somatic	145	4	0.0275862		WXS	Illumina HiSeq	Phase_I	144	10	0.0694444	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	10.66	1.411877	0.25465	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.02863	4.13;4.13	1.05	-0.082	0.13700	.	.	.	.	.	T	0.01092	0.0036	L	0.49350	1.555	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.44544	-0.9321	9	0.56958	D	0.05	.	4.7437	0.13028	0.0:0.404:0.596:0.0	rs61814630	15	Q86T75-2	.	I	211;15;15;286	ENSP00000358344:M15I;ENSP00000345684:M286I	ENSP00000345684:M286I	M	+	3	0	NBPF10	144011166	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-1.452000	0.02385	-0.014000	0.14175	0.281000	0.19383	ATG	.	.	weak		0.502	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		A	145299809	G	A	145299809	3	1	17	1	0	0	0	0	1	0	0	0	10193	1290	45	2	880	2	NBPF10	1	145299809	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	28212671	145299809	103950812	9	4257										
ZNF648	127665	hgsc.bcm.edu	37	chr1	182026466	182026466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtactttcctgctgttccgcGcttttgccaggaccgcggca	11	14	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:182026466G>A	ENST00000339948.3	-	2	887	c.680C>T	c.(679-681)gCg>gTg	p.A227V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCTGTTCCGCGCTTTTGCCAG	0.701																																					p.A227V	NSCLC(71;908 1374 5429 20458 35642)	Atlas-SNP	.											.	ZNF648	111	.	0			c.C680T						PASS	.						19	21	21					1																	182026466		2197	4292	6489	SO:0001583	missense	127665	exon2			TTCCGCGCTTTTG	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.680C>T	1.37:g.182026466G>A	ENSP00000344129:p.Ala227Val	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	64	20	0.3125	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	9.025	0.985833	0.18889	.	.	ENSG00000179930	ENST00000339948	T	0.08008	3.14	2.77	-5.54	0.02544	.	.	.	.	.	T	0.03348	0.0097	N	0.12746	0.255	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.39603	-0.9606	9	0.48119	T	0.1	.	1.1984	0.01880	0.3631:0.2567:0.2507:0.1295	.	227	Q5T619	ZN648_HUMAN	V	227	ENSP00000344129:A227V	ENSP00000344129:A227V	A	-	2	0	ZNF648	180293089	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.098000	0.11024	-1.907000	0.01087	-0.150000	0.13652	GCG	.	.	none		0.701	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		A	182026466	G	A	182026466	3	1	17	1	0	0	0	0	1	0	0	0	18060	1087	38	1	1030	1	ZNF648	1	182026466	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	36726657	182026466	67224155	10	4258										
KCNT2	343450	hgsc.bcm.edu	37	chr1	196451484	196451484	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	taagccccacaaaggtagacTtctgttcacccaaaagatat	6	11	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:196451484T>A	ENST00000294725.9	-	4	1216	c.301A>T	c.(301-303)Agt>Tgt	p.S101C	KCNT2_ENST00000609185.1_Missense_Mutation_p.S101C|KCNT2_ENST00000451324.2_De_novo_Start_InFrame|KCNT2_ENST00000367433.5_Missense_Mutation_p.S101C|KCNT2_ENST00000367431.4_Missense_Mutation_p.S101C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	101					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGGTAGACTTCTGTTCACC	0.289																																					p.S101C		Atlas-SNP	.											.	KCNT2	243	.	0			c.A301T						PASS	.						59	55	56					1																	196451484		2202	4300	6502	SO:0001583	missense	343450	exon4			GTAGACTTCTGTT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.301A>T	1.37:g.196451484T>A	ENSP00000294725:p.Ser101Cys	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	229	53	0.231441	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464348	0.63513	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19105	2.18;2.17;2.43	5.44	4.25	0.50352	.	0.079635	0.53938	D	0.000052	T	0.26376	0.0644	L	0.42245	1.32	0.80722	D	1	D;P;P;D	0.55800	0.973;0.711;0.945;0.973	P;P;P;P	0.51550	0.474;0.673;0.673;0.474	T	0.01099	-1.1452	10	0.48119	T	0.1	-21.5096	11.4097	0.49919	0.1351:0.0:0.0:0.8649	.	101;101;101;101	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	C	101	ENSP00000356403:S101C;ENSP00000356401:S101C;ENSP00000294725:S101C	ENSP00000294725:S101C	S	-	1	0	KCNT2	194718107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.280000	0.43443	2.183000	0.69458	0.533000	0.62120	AGT	.	.	none		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196451484	T	A	196451484	3	1	17	1	0	0	0	0	1	0	0	0	8092	1609	56	5	3206	5	KCNT2	1	196451484	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	14425018	196451484	52799137	11	4259										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186947	203186947	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caaagtcatctaagtccagtGcccagaccatggccccgccc	8	17	2	1	rs201682373	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:203186947G>C	ENST00000367229.1	-	10	1110	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	CHIT1_ENST00000255427.3_Missense_Mutation_p.A340G|CHIT1_ENST00000535569.1_Missense_Mutation_p.A350G|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	359					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TAAGTCCAGTGCCCAGACCAT	0.637																																					p.A359G		Atlas-SNP	.											CHIT1,NS,carcinoma,0,1	CHIT1	61	1	0			c.C1076G						scavenged	.						60	52	55					1																	203186947		2203	4300	6503	SO:0001583	missense	1118	exon10			TCCAGTGCCCAGA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1076C>G	1.37:g.203186947G>C	ENSP00000356198:p.Ala359Gly	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	7	0.148936	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728517	0.15507	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	4.57	0.302	0.15786	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.729039	0.11613	N	0.546569	T	0.10035	0.0246	M	0.85630	2.765	0.09310	N	1	B;B	0.27853	0.191;0.016	B;B	0.29176	0.099;0.04	T	0.34079	-0.9843	10	0.87932	D	0	-8.5687	2.2813	0.04115	0.1816:0.1509:0.5123:0.1553	.	350;359	G5EA51;Q13231	.;CHIT1_HUMAN	G	359;340;350	ENSP00000356198:A359G;ENSP00000255427:A340G;ENSP00000438078:A350G	ENSP00000255427:A340G	A	-	2	0	CHIT1	201453570	0.150000	0.22732	0.000000	0.03702	0.071000	0.16799	2.681000	0.46926	-0.144000	0.11314	0.563000	0.77884	GCA	G|0.988;C|0.012	0.012	strong		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		C	203186947	G	C	203186947	3	2	17	1	0	0	0	0	1	0	0	0	3346	1319	46	4	332	4	CHIT1	1	203186947	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	6735463	203186947	46063674	12	4260										
BTG2	7832	hgsc.bcm.edu	37	chr1	203276261	203276261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aacaccactggtttcccgaaAagccgtccaagggctccggc	10	15	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:203276261A>C	ENST00000290551.4	+	2	243	c.172A>C	c.(172-174)Aag>Cag	p.K58Q	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	58					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GTTTCCCGAAAAGCCGTCCAA	0.597																																					p.K58Q		Atlas-SNP	.											.	BTG2	16	.	0			c.A172C						PASS	.						42	44	43					1																	203276261		2203	4300	6503	SO:0001583	missense	7832	exon2			CCCGAAAAGCCGT		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.172A>C	1.37:g.203276261A>C	ENSP00000290551:p.Lys58Gln	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	63	16	0.253968	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629108	0.46944	.	.	ENSG00000159388	ENST00000290551	T	0.23950	1.88	4.53	3.39	0.38822	Anti-proliferative protein (4);	0.065881	0.64402	D	0.000016	T	0.21881	0.0527	L	0.51853	1.615	0.45439	D	0.998419	B	0.30511	0.282	B	0.25506	0.061	T	0.03433	-1.1037	10	0.44086	T	0.13	-25.7358	10.3	0.43646	0.8338:0.1662:0.0:0.0	.	58	P78543	BTG2_HUMAN	Q	58	ENSP00000290551:K58Q	ENSP00000290551:K58Q	K	+	1	0	BTG2	201542884	1.000000	0.71417	0.630000	0.29268	0.848000	0.48234	4.716000	0.61916	0.752000	0.32923	0.260000	0.18958	AAG	.	.	none		0.597	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		C	203276261	A	C	203276261	3	2	17	1	0	0	0	0	1	0	0	0	1554	15	1	5	178	5	BTG2	1	203276261	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	89314	203276261	45974360	13	4261										
RAB3GAP2	25782	hgsc.bcm.edu	37	chr1	220326665	220326665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tggtctttcccaaaaggagtGggtgtggcctcttctgtggg	15	8	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:220326665G>A	ENST00000358951.2	-	33	3845	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1243					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAAAAGGAGTGGGTGTGGCCT	0.468																																					p.P1243P		Atlas-SNP	.											.	RAB3GAP2	120	.	0			c.C3729T						PASS	.						211	202	205					1																	220326665		2203	4300	6503	SO:0001819	synonymous_variant	25782	exon33			AGGAGTGGGTGTG	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3729C>T	1.37:g.220326665G>A		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	284	72	0.253521	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	CCDS31028.1																																																																																			.	.	none		0.468	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		A	220326665	G	A	220326665	2	1	17	1	0	0	0	0	0	0	0	1	12936	1335	47	2		2	RAB3GAP2	1	220326665	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	17050404	220326665	28923956	14	4262										
OR2L8	391190	hgsc.bcm.edu	37	chr1	248112303	248112303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctgtccatgattcttctcatCttcttggacacccatctcca	4	15	5	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr1:248112303C>G	ENST00000357191.3	+	1	144	c.144C>G	c.(142-144)atC>atG	p.I48M	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TTCTTCTCATCTTCTTGGACA	0.418																																					p.I48M		Atlas-SNP	.											OR2L8,right_lower_lobe,carcinoma,0,1	OR2L8	92	1	0			c.C144G						PASS	.						337	303	314					1																	248112303		2203	4300	6503	SO:0001583	missense	391190	exon1			TCTCATCTTCTTG	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.144C>G	1.37:g.248112303C>G	ENSP00000349719:p.Ile48Met	Somatic	405	0	0		WXS	Illumina HiSeq	Phase_I	358	99	0.276536	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351760	0.24512	.	.	ENSG00000196936	ENST00000357191	T	0.08458	3.09	1.48	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30135	0.0755	M	0.93106	3.38	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11155	-1.0599	9	0.87932	D	0	.	2.7963	0.05402	0.4476:0.3804:0.0:0.172	.	48	Q8NGY9	OR2L8_HUMAN	M	48	ENSP00000349719:I48M	ENSP00000349719:I48M	I	+	3	3	OR2L8	246178926	0.000000	0.05858	0.013000	0.15412	0.267000	0.26476	-4.229000	0.00270	0.803000	0.34113	0.298000	0.19748	ATC	.	.	none		0.418	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			G	248112303	C	G	248112303	3	3	17	1	0	0	0	0	1	0	0	0	11009	903	32	4	146	4	OR2L8	1	248112303	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	27785638	248112303	1138318	15	4263										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73677421	73677421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccaacaggtcttgccagataAtcatccaactgaagaggctc	8	12	2	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:73677421A>G	ENST00000264448.6	+	8	3875	c.3764A>G	c.(3763-3765)aAt>aGt	p.N1255S	ALMS1_ENST00000409009.1_Missense_Mutation_p.N1213S|ALMS1_ENST00000377715.1_Missense_Mutation_p.N1255S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1255	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGCCAGATAATCATCCAACT	0.473																																					p.N1255S		Atlas-SNP	.											ALMS1,NS,carcinoma,+1,1	ALMS1	384	1	0			c.A3764G						scavenged	.						75	77	77					2																	73677421		1842	4082	5924	SO:0001583	missense	7840	exon8			CAGATAATCATCC	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3764A>G	2.37:g.73677421A>G	ENSP00000264448:p.Asn1255Ser	Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	92	2	0.0217391	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.044694	0.00398	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13420	3.48;3.48;2.59	4.44	-3.06	0.05379	.	0.544523	0.17105	N	0.186833	T	0.02193	0.0068	N	0.00642	-1.3	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.12156	0.007;0.003;0.0	T	0.30707	-0.9969	10	0.02654	T	1	.	3.5726	0.07922	0.309:0.1036:0.482:0.1054	.	1255;1213;1255	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	1213;1255;1255	ENSP00000386627:N1213S;ENSP00000264448:N1255S;ENSP00000366944:N1255S	ENSP00000264448:N1255S	N	+	2	0	ALMS1	73530929	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.766000	0.04725	-1.026000	0.03330	-3.725000	0.00023	AAT	.	.	none		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73677421	A	G	73677421	3	3	17	1	0	0	0	0	1	0	0	0	535	101	4	2	3794	2	ALMS1	2	73677421	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10		73677421	169521952	16	4264										
AUP1	27429	hgsc.bcm.edu	37	chr2	74756626	74756626	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aggaagcagtcacccggaagCctgggggcgagaggcgaagt	18	9	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:74756626C>T	ENST00000258080.3	+	0	123				AUP1_ENST00000377526.3_Splice_Site_p.R17R|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CACCCGGAAGCCTGGGGGCGA	0.662																																					p.R17R		Atlas-SNP	.											.	AUP1	29	.	0			c.G51A						PASS	.						21	33	29					2																	74756626		2093	4161	6254	SO:0001623	5_prime_UTR_variant	550	exon2			CGGAAGCCTGGGG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-508C>T	2.37:g.74756626C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	93	21	0.225806	NM_181575	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	CCDS1951.1																																																																																			.	.	none		0.662	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		T	74756626	C	T	74756626	1	4	17	0	1	0	0	0	0	0	0	0	1220	753	26	2		2	AUP1	2	74756626	5'UTR	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1079205	74756626	168442747	17	4265										
SEMA4C	54910	hgsc.bcm.edu	37	chr2	97531445	97531445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aaggcgtaggtgccacagacGtacaggtgggaggcattgta	16	7	0	1	rs139208590	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:97531445G>A	ENST00000305476.5	-	5	510	c.378C>T	c.(376-378)taC>taT	p.Y126Y		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	126	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TGCCACAGACGTACAGGTGGG	0.632													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		20427	0.0		0.0	False		,,,				2504	0.0				p.Y126Y		Atlas-SNP	.											.	SEMA4C	56	.	0			c.C378T						PASS	.	G		3,4403	6.2+/-15.9	0,3,2200	142	126	131		378	-4.7	0.2	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	SEMA4C	NM_017789.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		126/834	97531445	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54910	exon5			ACAGACGTACAGG	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.378C>T	2.37:g.97531445G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	93	28	0.301075	NM_017789	Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	CCDS2029.1																																																																																			G|1.000;A|0.000	0.000	strong		0.632	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		A	97531445	G	A	97531445	2	1	17	1	0	0	0	0	0	0	0	1	14033	1140	40	1		1	SEMA4C	2	97531445	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	22774819	97531445	145667928	18	4266										
ARHGEF4	50649	hgsc.bcm.edu	37	chr2	131799003	131799003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aagtaccctctgcagctggcCgagctgctcaaatacacgca	9	14	2	0	rs374604987		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:131799003C>T	ENST00000326016.5	+	9	1824	c.1305C>T	c.(1303-1305)gcC>gcT	p.A435A	ARHGEF4_ENST00000392953.3_Silent_p.A435A|ARHGEF4_ENST00000525839.1_Silent_p.A435A|ARHGEF4_ENST00000355771.3_Silent_p.A364A|ARHGEF4_ENST00000409303.1_Silent_p.A375A|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	435	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCAGCTGGCCGAGCTGCTCA	0.607																																					p.A435A		Atlas-SNP	.											.	ARHGEF4	89	.	0			c.C1305T						PASS	.	C	,	0,4406		0,0,2203	38	35	36		1305,1305	-10.7	0	2		36	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	435/691,435/671	131799003	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50649	exon9			GCTGGCCGAGCTG	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1305C>T	2.37:g.131799003C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_032995	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172725	0.21704	0.0	2.33E-4	ENSG00000136002	ENST00000532720	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6524	0.17625	0.2674:0.4363:0.2018:0.0946	.	.	.	.	X	52	.	.	R	+	1	2	ARHGEF4	131515473	0.000000	0.05858	0.015000	0.15790	0.994000	0.84299	-9.239000	0.00012	-4.865000	0.00029	-0.367000	0.07326	CGA	.	.	weak		0.607	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			T	131799003	C	T	131799003	2	4	17	1	0	0	0	0	0	0	0	1	908	639	23	1		1	ARHGEF4	2	131799003	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	34267558	131799003	111400370	19	4267										
FAM171B	165215	hgsc.bcm.edu	37	chr2	187559047	187559047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caacagcagcagcagcagcaGcaacaacaacaacaacagca	7	14	0	0	rs73979342|rs144403657|rs71017336	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:187559047G>A	ENST00000304698.5	+	1	350	c.147G>A	c.(145-147)caG>caA	p.Q49Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	49	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcagcagcaacaacaac	0.632																																					p.Q49Q		Atlas-SNP	.											FAM171B,NS,carcinoma,0,1	FAM171B	146	1	0			c.G147A						PASS	.						23	26	25					2																	187559047		2202	4300	6502	SO:0001819	synonymous_variant	165215	exon1			GCAGCAGCAACAA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.147G>A	2.37:g.187559047G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																			G|0.500;A|0.500	0.500	weak		0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187559047	G	A	187559047	2	1	17	1	0	0	0	0	0	0	0	1	5491	962	34	2		2	FAM171B	2	187559047	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	55760044	187559047	55640326	20	4268										
FAM171B	165215	hgsc.bcm.edu	37	chr2	187559069	187559069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aacaacaacaacaacagcaaAagcagctggaggaggctgag	11	9	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:187559069A>C	ENST00000304698.5	+	1	372	c.169A>C	c.(169-171)Aag>Cag	p.K57Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	57	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						acaacagcaaaagcagcTGGA	0.637																																					p.K57Q		Atlas-SNP	.											FAM171B,NS,carcinoma,0,1	FAM171B	146	1	0			c.A169C						scavenged	.						29	32	31					2																	187559069		2202	4300	6502	SO:0001583	missense	165215	exon1			CAGCAAAAGCAGC	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.169A>C	2.37:g.187559069A>C	ENSP00000304108:p.Lys57Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	85	3	0.0352941	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	2.744	-0.261575	0.05791	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.46451	0.87	3.8	0.109	0.14578	.	0.791044	0.10905	N	0.621161	T	0.20577	0.0495	N	0.08118	0	0.19945	N	0.999948	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25710	-1.0124	10	0.19590	T	0.45	-0.0382	9.4414	0.38670	0.4377:0.5623:0.0:0.0	.	57;58	Q6P995;A8K122	F171B_HUMAN;.	Q	57	ENSP00000304108:K57Q	ENSP00000272804:K57Q	K	+	1	0	FAM171B	187267314	0.993000	0.37304	0.541000	0.28102	0.289000	0.27227	0.538000	0.23160	-0.102000	0.12197	0.524000	0.50904	AAG	.	.	none		0.637	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		C	187559069	A	C	187559069	3	2	17	1	0	0	0	0	1	0	0	0	5491	15	1	5	171	5	FAM171B	2	187559069	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	22	187559069	55640304	21	4269										
SDPR	8436	hgsc.bcm.edu	37	chr2	192700851	192700851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agttactccccctggaggtcGccttctcagcagcctcctct	8	17	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:192700851G>A	ENST00000304141.4	-	2	1405	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CCTGGAGGTCGCCTTCTCAGC	0.567																																					p.A359V		Atlas-SNP	.											SDPR,right_upper_lobe,carcinoma,+1,1	SDPR	67	1	0			c.C1076T						scavenged	.						124	118	120					2																	192700851		2203	4300	6503	SO:0001583	missense	8436	exon2			GAGGTCGCCTTCT	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1076C>T	2.37:g.192700851G>A	ENSP00000305675:p.Ala359Val	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	154	43	0.279221	NM_004657		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271428	0.23221	.	.	ENSG00000168497	ENST00000304141	T	0.64438	-0.1	4.99	-8.5	0.00927	.	2.243020	0.01630	N	0.023474	T	0.46092	0.1375	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21518	-1.0243	10	0.39692	T	0.17	-0.367	2.1987	0.03917	0.3415:0.0673:0.271:0.3202	.	359	O95810	SDPR_HUMAN	V	359	ENSP00000305675:A359V	ENSP00000305675:A359V	A	-	2	0	SDPR	192409096	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.817000	0.04472	-2.474000	0.00527	-1.119000	0.02030	GCG	.	.	none		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		A	192700851	G	A	192700851	3	1	17	1	0	0	0	0	1	0	0	0	13970	1087	38	1	205	1	SDPR	2	192700851	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	5141782	192700851	50498522	22	4270										
FN1	2335	hgsc.bcm.edu	37	chr2	216257691	216257691	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtagtaggggcactctcgccGccattaatgagagtgataac	12	9	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:216257691G>A	ENST00000359671.1	-	25	4062				FN1_ENST00000432072.2_Silent_p.G1344G|FN1_ENST00000323926.6_Silent_p.G1344G|FN1_ENST00000421182.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000354785.4_Silent_p.G1344G|FN1_ENST00000356005.4_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACTCTCGCCGCCATTAATGA	0.463																																					p.G1344G		Atlas-SNP	.											.	FN1	521	.	0			c.C4032T						PASS	.						71	71	71					2																	216257691		1917	4131	6048	SO:0001627	intron_variant	2335	exon25			CTCGCCGCCATTA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1154C>T	2.37:g.216257691G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	126	31	0.246032	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																				.	.	none		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216257691	G	A	216257691	1	1	17	0	1	0	0	0	0	0	0	0	5962	1074	38	1		1	FN1	2	216257691	Intron	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	23556840	216257691	26941682	23	4271										
DGKD	8527	hgsc.bcm.edu	37	chr2	234363499	234363499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gactttaacaacaagcgcgaTgagcacccagagaagtgcag	11	10	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr2:234363499T>A	ENST00000264057.2	+	19	2367	c.2355T>A	c.(2353-2355)gaT>gaA	p.D785E	DGKD_ENST00000409813.3_Missense_Mutation_p.D741E	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	785					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		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;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAAGCGCGATGAGCACCCAG	0.478																																					p.D785E		Atlas-SNP	.											.	DGKD	106	.	0			c.T2355A						PASS	.						141	118	126					2																	234363499		2203	4300	6503	SO:0001583	missense	8527	exon19			GCGCGATGAGCAC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2355T>A	2.37:g.234363499T>A	ENSP00000264057:p.Asp785Glu	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	53	10	0.188679	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.317972	0.01320	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.26223	1.75;1.75	3.57	-4.83	0.03161	Diacylglycerol kinase, accessory domain (2);	0.000000	0.64402	D	0.000003	T	0.04634	0.0126	N	0.00303	-1.675	0.35588	D	0.806807	B;B;B	0.26081	0.001;0.141;0.005	B;B;B	0.28139	0.013;0.086;0.085	T	0.36866	-0.9730	10	0.02654	T	1	.	12.6652	0.56837	0.0:0.1334:0.0:0.8666	.	669;741;785	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	E	785;741	ENSP00000264057:D785E;ENSP00000386455:D741E	ENSP00000264057:D785E	D	+	3	2	DGKD	234028238	0.000000	0.05858	0.342000	0.25602	0.228000	0.25075	-2.627000	0.00874	-1.028000	0.03321	-0.304000	0.09214	GAT	.	.	none		0.478	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234363499	T	A	234363499	3	1	17	1	0	0	0	0	1	0	0	0	4467	1461	51	5	2453	5	DGKD	2	234363499	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	18105808	234363499	8835874	24	4272										
EFHB	151651	hgsc.bcm.edu	37	chr3	19974810	19974810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccactcctgattcaatgtttCcagcctcctttctctgttca	4	15	3	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:19974810C>T	ENST00000295824.9	-	1	862	c.701G>A	c.(700-702)gGa>gAa	p.G234E	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.G104E	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	234							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCAATGTTTCCAGCCTCCTT	0.478																																					p.G234E		Atlas-SNP	.											.	EFHB	186	.	0			c.G701A						PASS	.						107	102	104					3																	19974810		2203	4300	6503	SO:0001583	missense	151651	exon1			ATGTTTCCAGCCT	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.701G>A	3.37:g.19974810C>T	ENSP00000295824:p.Gly234Glu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	122	38	0.311475	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	0.205	-1.041511	0.02013	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256	T;T;T	0.19938	2.11;2.11;2.38	5.0	-4.58	0.03410	.	0.774623	0.11571	N	0.550800	T	0.04092	0.0114	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37663	-0.9696	9	.	.	.	-4.4587	2.2528	0.04048	0.1215:0.2865:0.123:0.469	.	104;234	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	E	234;104;234	ENSP00000295824:G234E;ENSP00000342263:G104E;ENSP00000373908:G234E	.	G	-	2	0	EFHB	19949814	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.311000	0.08124	-0.692000	0.05128	-0.136000	0.14681	GGA	.	.	none		0.478	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		T	19974810	C	T	19974810	3	4	17	1	0	0	0	0	1	0	0	0	4945	855	30	2	1852	2	EFHB	3	19974810	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		19974810	178047620	25	4273										
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022624	32022624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cggctgctgctgcggctgctGctgttgctacccccgccgcc	13	18	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:32022624G>A	ENST00000396556.2	-	1	170	c.48C>T	c.(46-48)agC>agT	p.S16S	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Silent_p.S16S	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	16					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		tgcggctgctgctgttgctAC	0.791																																					p.S16S		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C48T						PASS	.						2	3	2					3																	32022624		674	1482	2156	SO:0001819	synonymous_variant	114884	exon1			GCTGCTGCTGTTG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.48C>T	3.37:g.32022624G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	114	38	0.333333	NM_017784	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																			.	.	none		0.791	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	32022624	G	A	32022624	2	1	17	1	0	0	0	0	0	0	0	1	11275	1310	46	2		2	OSBPL10	3	32022624	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	12047814	32022624	165999806	26	4274										
DOCK3	1795	hgsc.bcm.edu	37	chr3	51315142	51315142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caaatcgcacgctcaggaggCggtaagagggcagcggtgcc	16	11	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:51315142C>T	ENST00000266037.9	+	26	2803	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	927					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A927V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTCAGGAGGCGGTAAGAGGG	0.547																																					p.A927V		Atlas-SNP	.											DOCK3_ENST00000266037,colon,carcinoma,0,1	DOCK3	397	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2780T						PASS	.						42	44	44					3																	51315142		2052	4183	6235	SO:0001583	missense	1795	exon26			AGGAGGCGGTAAG	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2780C>T	3.37:g.51315142C>T	ENSP00000266037:p.Ala927Val	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	255	62	0.243137	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936315	0.73442	.	.	ENSG00000088538	ENST00000266037	T	0.66460	-0.21	5.25	5.25	0.73442	.	0.203179	0.53938	D	0.000060	T	0.54679	0.1873	L	0.41236	1.265	0.58432	D	0.999996	P	0.47350	0.894	B	0.32864	0.154	T	0.57808	-0.7747	10	0.29301	T	0.29	.	19.2367	0.93864	0.0:1.0:0.0:0.0	.	927	Q8IZD9	DOCK3_HUMAN	V	927	ENSP00000266037:A927V	ENSP00000266037:A927V	A	+	2	0	DOCK3	51290182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.637000	0.89404	0.585000	0.79938	GCG	.	.	none		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51315142	C	T	51315142	3	4	17	1	0	0	0	0	1	0	0	0	4688	768	27	1	2882	1	DOCK3	3	51315142	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	19292518	51315142	146707288	27	4275										
PCBP4	57060	hgsc.bcm.edu	37	chr3	51994890	51994890	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctccatcctcacctgctcccGgattcgctttacagtctcgc	6	18	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:51994890G>T	ENST00000461554.1	-	5	461	c.130C>A	c.(130-132)Cgg>Agg	p.R44R	PCBP4_ENST00000395014.2_5'Flank|PCBP4_ENST00000395013.3_5'UTR|RP11-155D18.12_ENST00000488257.1_RNA|RP11-155D18.14_ENST00000489595.2_Silent_p.R44R|PCBP4_ENST00000428823.2_Silent_p.R44R|PCBP4_ENST00000355852.2_Silent_p.R44R|PCBP4_ENST00000322099.7_Silent_p.R44R|PCBP4_ENST00000471622.1_Silent_p.R44R|PCBP4_ENST00000484633.1_Silent_p.R44R	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	44	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCTGCTCCCGGATTCGCTTT	0.562																																					p.R44R		Atlas-SNP	.											.	PCBP4	35	.	0			c.C130A						PASS	.						188	203	198					3																	51994890		2203	4300	6503	SO:0001819	synonymous_variant	57060	exon4			GCTCCCGGATTCG	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.130C>A	3.37:g.51994890G>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_033008	Q96AH7	Silent	SNP	ENST00000461554.1	37	CCDS2839.1																																																																																			.	.	none		0.562	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		T	51994890	G	T	51994890	2	4	17	1	0	0	0	0	0	0	0	1	11503	1115	39	4		4	PCBP4	3	51994890	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	679748	51994890	146027540	28	4276										
CRYBG3	131544	hgsc.bcm.edu	37	chr3	97607289	97607289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agaaatgaaatcattacatcCgcttcaaatggtaagcaaat	6	7	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:97607289C>T	ENST00000182096.4	+	6	1614	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2465							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCATTACATCCGCTTCAAATG	0.373																																					p.P2465L		Atlas-SNP	.											CRYBG3,NS,carcinoma,-1,1	CRYBG3	86	1	0			c.C7394T						scavenged	.						49	45	46					3																	97607289		1824	4083	5907	SO:0001583	missense	131544	exon9			TACATCCGCTTCA			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1550C>T	3.37:g.97607289C>T	ENSP00000182096:p.Pro517Leu	Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	276	50	0.181159	NM_153605	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	C	22.3	4.276340	0.80580	.	.	ENSG00000080200	ENST00000182096	D	0.81579	-1.51	5.54	5.54	0.83059	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.536580	0.18498	N	0.139438	T	0.78641	0.4315	L	0.54323	1.7	0.80722	D	1	P	0.43431	0.807	B	0.39185	0.293	T	0.81762	-0.0784	10	0.72032	D	0.01	.	17.2707	0.87101	0.0:1.0:0.0:0.0	.	517	Q68DQ2	CRBG3_HUMAN	L	517	ENSP00000182096:P517L	ENSP00000182096:P517L	P	+	2	0	CRYBG3	99089979	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.933000	0.63484	2.611000	0.88343	0.655000	0.94253	CCG	.	.	none		0.373	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		T	97607289	C	T	97607289	3	4	17	1	0	0	0	0	1	0	0	0	3913	652	23	1	1572	1	CRYBG3	3	97607289	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	45612399	97607289	100415141	29	4277										
FAM194A	131831	hgsc.bcm.edu	37	chr3	150421591	150421593	+	In_Frame_Del	DEL	TCC	TCC	-													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cctcctcctcctccacctctTcctcctcctcctcctcctct							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr3:150421591_150421593delTCC	ENST00000295910.6	-	1	145_147	c.93_95delGGA	c.(91-96)gaggaa>gaa	p.31_32EE>E	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctccacctcttcctcctcctcct	0.635																																					p.32_32del		Atlas-Indel	.											.	FAM194A	91	.	0			c.94_96del						PASS	.			43,34,4189		6,0,31,0,34,2062						-0.2	0			67	69,1,8182		12,0,45,0,1,4068	no	codingComplex	FAM194A	NM_152394.3		18,0,76,0,35,6130	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8483,1.805,1.1743				112,35,12371				SO:0001651	inframe_deletion	131831	exon1			.																												ENST00000295910.6:c.93_95delGGA	3.37:g.150421600_150421602delTCC	ENSP00000295910:p.Glu33del	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	96	14	0.145833	NM_152394		In_Frame_Del	DEL	ENST00000295910.6	37	CCDS3151.2																																																																																			.	.	none		0.635	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			-	150421593	TCC	-	150421591	7	5	17	1	0	1	0	1	0	0	0	0	5526	1783	62	0	1952	0	FAM194A	3	150421591	In_Frame_Del	DEL	TCC	TCGA-FF-A7CQ-01A-11D-A382-10	52814302	150421591	47600839	30	4278										
MAEA	10296	hgsc.bcm.edu	37	chr4	1326571	1326571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aagaaagcacttcagccaagCagaagggagccagctggacg	13	10	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:1326571C>T	ENST00000303400.4	+	6	746	c.683C>T	c.(682-684)gCa>gTa	p.A228V	MAEA_ENST00000505839.1_Missense_Mutation_p.A180V|MAEA_ENST00000505177.2_Missense_Mutation_p.A266V|MAEA_ENST00000510794.1_Missense_Mutation_p.A227V|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.A187V|MAEA_ENST00000514708.1_Silent_p.S161S|MAEA_ENST00000452175.2_Missense_Mutation_p.A149V	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	228					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TTCAGCCAAGCAGAAGGGAGC	0.517																																					p.A228V		Atlas-SNP	.											.	MAEA	39	.	0			c.C683T						PASS	.						50	44	46					4																	1326571		2203	4300	6503	SO:0001583	missense	10296	exon6			GCCAAGCAGAAGG	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.683C>T	4.37:g.1326571C>T	ENSP00000302830:p.Ala228Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	122	40	0.327869	NM_001017405	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196643	0.58126	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.43688	0.95;0.94;0.98;0.96;0.98;0.94	5.35	5.35	0.76521	Ran binding protein-like, CRA domain (1);	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.29766	0.071;0.256;0.2;0.073	B;B;B;B	0.33960	0.05;0.173;0.047;0.065	T	0.17592	-1.0364	10	0.44086	T	0.13	-15.0804	19.04	0.92995	0.0:1.0:0.0:0.0	.	227;266;187;228	B4DVN3;E7ESC7;Q7L5Y9-3;Q7L5Y9	.;.;.;MAEA_HUMAN	V	228;266;187;207;160;149;227;180	ENSP00000302830:A228V;ENSP00000422215:A266V;ENSP00000264750:A187V;ENSP00000426903:A160V;ENSP00000411415:A149V;ENSP00000426807:A227V	ENSP00000264750:A187V	A	+	2	0	MAEA	1316571	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	7.433000	0.80362	2.487000	0.83934	0.655000	0.94253	GCA	.	.	none		0.517	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		T	1326571	C	T	1326571	3	4	17	1	0	0	0	0	1	0	0	0	9153	710	25	2	705	2	MAEA	4	1326571	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		1326571	189827705	31	4279										
PPP2R2C	5522	hgsc.bcm.edu	37	chr4	6325285	6325285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tggtgttccgatcgaacatgCggaagaagttgttgtaggcc	14	7	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:6325285C>T	ENST00000382599.4	-	9	1304	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R346H|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.R363H|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R356H|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R356H			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	363					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ATCGAACATGCGGAAGAAGTT	0.617																																					p.R363H		Atlas-SNP	.											.	PPP2R2C	63	.	0			c.G1088A						PASS	.						55	48	51					4																	6325285		2202	4300	6502	SO:0001583	missense	5522	exon9			AACATGCGGAAGA	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1088G>A	4.37:g.6325285C>T	ENSP00000372042:p.Arg363His	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	65	17	0.261538	NM_181876	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37		.	.	.	.	.	.	.	.	.	.	C	17.53	3.413163	0.62511	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.39147	1.195	0.80722	D	1	B;P;B;B	0.35793	0.037;0.521;0.037;0.347	B;B;B;B	0.26864	0.074;0.074;0.074;0.074	T	0.05517	-1.0880	10	0.24483	T	0.36	-43.8669	16.2691	0.82606	0.0:1.0:0.0:0.0	.	356;363;346;363	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	H	363;356;346;363;356	ENSP00000335083:R363H;ENSP00000423649:R356H;ENSP00000422374:R346H;ENSP00000372042:R363H;ENSP00000425247:R356H	ENSP00000335083:R363H	R	-	2	0	PPP2R2C	6376186	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.711000	0.74675	2.304000	0.77564	0.555000	0.69702	CGC	.	.	none		0.617	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		T	6325285	C	T	6325285	3	4	17	1	0	0	0	0	1	0	0	0	12386	768	27	1	259	1	PPP2R2C	4	6325285	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	4998714	6325285	184828991	32	4280										
PCDH7	5099	hgsc.bcm.edu	37	chr4	30724220	30724221	+	Frame_Shift_Ins	INS	-	-	C													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tggcccgcgaccgcgggcagINSccccccaagaccgacaaggc							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:30724220_30724221insC	ENST00000361762.2	+	1	2184_2185	c.1176_1177insC	c.(1177-1179)cccfs	p.P393fs	PCDH7_ENST00000543491.1_Frame_Shift_Ins_p.P393fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	393	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACCGCGGGCAGCCCCCCAAGAC	0.634																																					p.Q392fs		Pindel,Atlas-Indel	.											.	PCDH7	215	.	0			c.1176_1177insC						PASS	.																																			SO:0001589	frameshift_variant	5099	exon1			.	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1182dupC	4.37:g.30724226_30724226dupC	ENSP00000355243:p.Pro393fs	Somatic	103	.	.		WXS	Illumina HiSeq	Phase_I	86	13	0.151	NM_032457	O60246|O60247|Q4W5C4	Frame_Shift_Ins	INS	ENST00000361762.2	37	CCDS33971.1																																																																																			.	.	none		0.634	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		C	30724221	-	C	30724220	7	5	17	1	0	1	1	0	0	0	0	0	11516	962	34	0	1178	0	PCDH7	4	30724220	Frame_Shift_Ins	INS	-	TCGA-FF-A7CQ-01A-11D-A382-10	24398935	30724220	160430056	33	4281										
IGJ	3512	hgsc.bcm.edu	37	chr4	71522967	71522967	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caaatctggttctcaatggtGaggtgggatcagagatattc	12	6	3	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:71522967G>A	ENST00000254801.4	-	3	399	c.230C>T	c.(229-231)tCa>tTa	p.S77L	IGJ_ENST00000543780.1_Missense_Mutation_p.S93L|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	77					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TCTCAATGGTGAGGTGGGATC	0.308																																					p.S77L		Atlas-SNP	.											.	IGJ	13	.	0			c.C230T						PASS	.						103	96	98					4																	71522967		2203	4298	6501	SO:0001583	missense	3512	exon3			AATGGTGAGGTGG	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"Immunoglobulins / IGJ linker"	5713	protein-coding gene	gene with protein product	"immunoglobulin J chain", "IgJ chain"	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.230C>T	4.37:g.71522967G>A	ENSP00000254801:p.Ser77Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	87	18	0.206897	NM_144646		Missense_Mutation	SNP	ENST00000254801.4	37	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506896	0.85282	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614	.	.	.	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000080	T	0.69387	0.3105	L	0.36672	1.1	0.42993	D	0.99449	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.72312	-0.4331	9	0.87932	D	0	.	18.181	0.89777	0.0:0.0:1.0:0.0	.	93;77	D6RHJ6;P01591	.;IGJ_HUMAN	L	77;77;93;86;93	.	ENSP00000254801:S77L	S	-	2	0	IGJ	71741831	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.942000	0.63547	2.588000	0.87417	0.655000	0.94253	TCA	.	.	none		0.308	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		A	71522967	G	A	71522967	3	1	17	1	0	0	0	0	1	0	0	0	7592	1294	45	2	257	2	IGJ	4	71522967	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	40798747	71522967	119631309	34	4282										
DSPP	1834	hgsc.bcm.edu	37	chr4	88533881	88533881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gatgtcgctgttgtccaagaAgatggacctcaagtagctgg	13	8	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:88533881A>T	ENST00000282478.7	+	3	576	c.543A>T	c.(541-543)gaA>gaT	p.E181D	DSPP_ENST00000399271.1_Missense_Mutation_p.E181D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	181					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TTGTCCAAGAAGATGGACCTC	0.408																																					p.E181D		Atlas-SNP	.											.	DSPP	174	.	0			c.A543T						PASS	.						113	110	111					4																	88533881		2033	4191	6224	SO:0001583	missense	1834	exon4			CCAAGAAGATGGA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.543A>T	4.37:g.88533881A>T	ENSP00000282478:p.Glu181Asp	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	124	42	0.33871	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.504048	0.44558	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.94417	-3.42;-3.42	4.94	-0.955	0.10356	.	0.000000	0.33515	N	0.004829	D	0.86243	0.5886	L	0.34521	1.04	0.09310	N	1	B	0.27229	0.172	B	0.23716	0.048	T	0.76008	-0.3116	10	0.51188	T	0.08	-12.5992	1.7214	0.02912	0.4096:0.2621:0.0771:0.2512	.	181	Q9NZW4	DSPP_HUMAN	D	181	ENSP00000382213:E181D;ENSP00000282478:E181D	ENSP00000282478:E181D	E	+	3	2	DSPP	88752905	0.300000	0.24435	0.021000	0.16686	0.237000	0.25408	0.236000	0.17967	0.036000	0.15547	0.455000	0.32223	GAA	.	.	none		0.408	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88533881	A	T	88533881	3	4	17	1	0	0	0	0	1	0	0	0	4782	69	3	5	553	5	DSPP	4	88533881	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	17010914	88533881	102620395	35	4283										
UBE2D3	7323	hgsc.bcm.edu	37	chr4	103720570	103720570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tttaacatacttacttatctCtgtctgttttatagatccgt	4	8	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:103720570C>T	ENST00000453744.2	-	7	905	c.392G>A	c.(391-393)aGa>aAa	p.R131K	UBE2D3_ENST00000321805.7_Missense_Mutation_p.R131K|UBE2D3_ENST00000507845.1_Missense_Mutation_p.R102K|UBE2D3_ENST00000502404.1_Missense_Mutation_p.R102K|UBE2D3_ENST00000357194.6_Missense_Mutation_p.R133K|UBE2D3_ENST00000394803.5_Missense_Mutation_p.R131K|UBE2D3_ENST00000338145.3_Missense_Mutation_p.R131K|UBE2D3_ENST00000343106.5_Missense_Mutation_p.R131K|UBE2D3_ENST00000505207.1_Missense_Mutation_p.R102K|UBE2D3_ENST00000394801.4_Missense_Mutation_p.R131K|UBE2D3_ENST00000504211.1_Missense_Mutation_p.R102K|UBE2D3_ENST00000350435.7_Missense_Mutation_p.R125K|UBE2D3_ENST00000394804.2_Missense_Mutation_p.R131K|UBE2D3_ENST00000349311.8_Missense_Mutation_p.R131K	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	131					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TTACTTATCTCTGTCTGTTTT	0.353																																					p.R133K		Atlas-SNP	.											.	UBE2D3	25	.	0			c.G398A						PASS	.						57	57	57					4																	103720570		2203	4299	6502	SO:0001583	missense	7323	exon6			TTATCTCTGTCTG	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.392G>A	4.37:g.103720570C>T	ENSP00000396901:p.Arg131Lys	Somatic	512	1	0.00195312		WXS	Illumina HiSeq	Phase_I	505	137	0.271287	NM_181893	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178726	0.57692	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.89	5.89	0.94794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.358712	0.35525	N	0.003152	T	0.32071	0.0817	L	0.27053	0.805	0.49582	D	0.999802	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.19148	0.003;0.024;0.002	T	0.03524	-1.1028	10	0.41790	T	0.15	.	20.2361	0.98357	0.0:1.0:0.0:0.0	.	133;131;131	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	K	131;131;131;131;131;131;125;131;131;102;133;102;102;102	ENSP00000396901:R131K;ENSP00000378280:R131K;ENSP00000378282:R131K;ENSP00000378283:R131K;ENSP00000345285:R131K;ENSP00000318494:R131K;ENSP00000337262:R125K;ENSP00000337208:R131K;ENSP00000344069:R131K;ENSP00000426620:R102K;ENSP00000349722:R133K;ENSP00000426586:R102K;ENSP00000424359:R102K;ENSP00000421904:R102K	ENSP00000318494:R131K	R	-	2	0	UBE2D3	103939682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.584000	0.60971	2.791000	0.96007	0.591000	0.81541	AGA	.	.	none		0.353	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		T	103720570	C	T	103720570	3	4	17	1	0	0	0	0	1	0	0	0	16847	913	32	2	112	2	UBE2D3	4	103720570	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	15186689	103720570	87433706	36	4284										
INTS12	57117	hgsc.bcm.edu	37	chr4	106621116	106621116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttgaatgcaagaaacctagtGctttcaaaaaaatgggatca	8	6	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:106621116G>A	ENST00000451321.2	-	2	526	c.47C>T	c.(46-48)gCa>gTa	p.A16V	INTS12_ENST00000394735.1_Missense_Mutation_p.A16V|INTS12_ENST00000340139.5_Missense_Mutation_p.A16V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	16					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GAAACCTAGTGCTTTCAAAAA	0.398																																					p.A16V		Atlas-SNP	.											.	INTS12	35	.	0			c.C47T						PASS	.						123	133	130					4																	106621116		2203	4300	6503	SO:0001583	missense	57117	exon3			CCTAGTGCTTTCA		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.47C>T	4.37:g.106621116G>A	ENSP00000415433:p.Ala16Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	113	27	0.238938	NM_020395	B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464285	0.63513	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368;ENST00000416543;ENST00000433009;ENST00000510876;ENST00000515819	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.9	5.9	0.94986	.	0.098342	0.64402	D	0.000001	T	0.65688	0.2715	L	0.56769	1.78	0.54753	D	0.999987	D	0.76494	0.999	P	0.62491	0.903	T	0.65647	-0.6117	10	0.72032	D	0.01	-15.9342	20.2789	0.98501	0.0:0.0:1.0:0.0	.	16	Q96CB8	INT12_HUMAN	V	16;16;16;16;16;16;16;29;16	ENSP00000378221:A16V;ENSP00000340737:A16V;ENSP00000415433:A16V;ENSP00000423618:A16V;ENSP00000412317:A16V;ENSP00000396309:A16V;ENSP00000396729:A16V;ENSP00000422856:A29V;ENSP00000422048:A16V	ENSP00000340737:A16V	A	-	2	0	INTS12	106840565	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	4.588000	0.60999	2.788000	0.95919	0.650000	0.86243	GCA	.	.	none		0.398	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		A	106621116	G	A	106621116	3	1	17	1	0	0	0	0	1	0	0	0	7777	1319	46	2	1365	2	INTS12	4	106621116	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	2900546	106621116	84533160	37	4285										
FAT4	79633	hgsc.bcm.edu	37	chr4	126242688	126242688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gagcatgtctttacctggtgGatgtttatgccatagaaaaa	10	6	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:126242688G>A	ENST00000394329.3	+	1	5135	c.5122G>A	c.(5122-5124)Gat>Aat	p.D1708N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1708	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTACCTGGTGGATGTTTATGC	0.398																																					p.D1708N		Atlas-SNP	.											.	FAT4	1752	.	0			c.G5122A						PASS	.						77	74	75					4																	126242688		1888	4124	6012	SO:0001583	missense	79633	exon1			CTGGTGGATGTTT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5122G>A	4.37:g.126242688G>A	ENSP00000377862:p.Asp1708Asn	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	126	26	0.206349	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971544	0.92919	.	.	ENSG00000196159	ENST00000394329	T	0.37411	1.2	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.35378	U	0.003259	T	0.24044	0.0582	N	0.20845	0.615	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.04373	-1.0956	10	0.18710	T	0.47	.	18.9064	0.92464	0.0:0.0:1.0:0.0	.	1708	Q6V0I7	FAT4_HUMAN	N	1708	ENSP00000377862:D1708N	ENSP00000377862:D1708N	D	+	1	0	FAT4	126462138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.466000	0.83321	0.655000	0.94253	GAT	.	.	none		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126242688	G	A	126242688	3	1	17	1	0	0	0	0	1	0	0	0	5692	1174	41	2	5124	2	FAT4	4	126242688	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	19621572	126242688	64911588	38	4286										
POU4F2	5458	hgsc.bcm.edu	37	chr4	147560457	147560457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agctcgagcaacgctggtggTggcggcggcggcggcggcgg	22	11	0	0	rs530695040|rs5862765		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:147560457T>C	ENST00000281321.3	+	1	413	c.165T>C	c.(163-165)ggT>ggC	p.G55G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcg	0.761																																					p.G55G		Atlas-SNP	.											.	POU4F2	83	.	0			c.T165C						PASS	.						3	3	3					4																	147560457		1733	3503	5236	SO:0001819	synonymous_variant	5458	exon1			TGGTGGTGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.165T>C	4.37:g.147560457T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	81	5	0.0617284	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	CCDS34074.1																																																																																			.	.	none		0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		C	147560457	T	C	147560457	2	2	17	1	0	0	0	0	0	0	0	1	12279	1683	59	2		2	POU4F2	4	147560457	Silent	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	21317769	147560457	43593819	39	4287										
NR3C2	4306	hgsc.bcm.edu	37	chr4	149002555	149002555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tccaccttgggcagctggtcGctgatgatctccaccagcat	10	14	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr4:149002555G>A	ENST00000358102.3	-	9	3257	c.2895C>T	c.(2893-2895)agC>agT	p.S965S	NR3C2_ENST00000344721.4_Silent_p.S965S|NR3C2_ENST00000355292.3_Silent_p.S969S|NR3C2_ENST00000512865.1_Silent_p.S848S|NR3C2_ENST00000511528.1_Silent_p.S969S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	965	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S965S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCAGCTGGTCGCTGATGATCT	0.577																																					p.S965S	Melanoma(27;428 957 40335 51025 51111)	Atlas-SNP	.											NR3C2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	NR3C2	94	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C2895T						PASS	.						65	60	62					4																	149002555		2203	4300	6503	SO:0001819	synonymous_variant	4306	exon9			CTGGTCGCTGATG	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2895C>T	4.37:g.149002555G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	103	36	0.349515	NM_000901	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																			.	.	none		0.577	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			A	149002555	G	A	149002555	2	1	17	1	0	0	0	0	0	0	0	1	10631	1078	38	1		1	NR3C2	4	149002555	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1442098	149002555	42151721	40	4288										
CCDC127	133957	hgsc.bcm.edu	37	chr5	205863	205863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcttttcttctaccaacttgCgtccctgagagataagggct	8	11	3	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr5:205863C>T	ENST00000296824.3	-	3	464	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	111										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TACCAACTTGCGTCCCTGAGA	0.483																																					p.R111H		Atlas-SNP	.											CCDC127,caecum,carcinoma,-1,1	CCDC127	27	1	0			c.G332A						scavenged	.						96	99	98					5																	205863		2203	4300	6503	SO:0001583	missense	133957	exon3			AACTTGCGTCCCT	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.332G>A	5.37:g.205863C>T	ENSP00000296824:p.Arg111His	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	194	4	0.0206186	NM_145265		Missense_Mutation	SNP	ENST00000296824.3	37	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489471	0.26686	.	.	ENSG00000164366	ENST00000296824	T	0.47528	0.84	5.77	4.9	0.64082	.	0.116513	0.64402	D	0.000004	T	0.36963	0.0986	L	0.43701	1.375	0.41415	D	0.987767	B	0.13594	0.008	B	0.10450	0.005	T	0.22312	-1.0220	10	0.38643	T	0.18	-12.7521	7.8573	0.29489	0.0:0.8301:0.0:0.1699	.	111	Q96BQ5	CC127_HUMAN	H	111	ENSP00000296824:R111H	ENSP00000296824:R111H	R	-	2	0	CCDC127	258863	0.999000	0.42202	0.999000	0.59377	0.955000	0.61496	1.825000	0.39081	2.725000	0.93324	0.561000	0.74099	CGC	.	.	none		0.483	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		T	205863	C	T	205863	3	4	17	1	0	0	0	0	1	0	0	0	2763	768	27	1	454	1	CCDC127	5	205863	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		205863	180709397	41	4289										
WDR70	55100	hgsc.bcm.edu	37	chr5	37703146	37703146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caaacttgttttctttgagcGtaggactttccaaagggtgt	10	7	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr5:37703146G>A	ENST00000265107.4	+	13	1529	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H	RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423																																					p.R458H		Atlas-SNP	.											.	WDR70	76	.	0			c.G1373A						PASS	.						126	114	118					5																	37703146		2203	4300	6503	SO:0001583	missense	55100	exon13			TTGAGCGTAGGAC	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1373G>A	5.37:g.37703146G>A	ENSP00000265107:p.Arg458His	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	194	44	0.226804	NM_018034	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523092	0.64747	.	.	ENSG00000082068	ENST00000265107	T	0.01335	5.0	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.246635	0.34223	N	0.004145	T	0.02533	0.0077	M	0.74647	2.275	0.80722	D	1	B	0.33841	0.428	B	0.20577	0.03	T	0.52162	-0.8612	10	0.38643	T	0.18	-35.416	14.7489	0.69511	0.0:0.0:0.8553:0.1447	.	458	Q9NW82	WDR70_HUMAN	H	458	ENSP00000265107:R458H	ENSP00000265107:R458H	R	+	2	0	WDR70	37738903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.761000	0.68801	2.880000	0.98712	0.650000	0.86243	CGT	.	.	none		0.423	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		A	37703146	G	A	37703146	3	1	17	1	0	0	0	0	1	0	0	0	17318	1145	40	1	1423	1	WDR70	5	37703146	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	37497283	37703146	143212114	42	4290										
ANKHD1	54882	hgsc.bcm.edu	37	chr5	139818110	139818110	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cctgaggtactccggagactGacatcctcagttagttgtgc	11	11	1	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr5:139818110G>A	ENST00000360839.2	+	3	679	c.525G>A	c.(523-525)ctG>ctA	p.L175L	ANKHD1_ENST00000394722.3_Silent_p.L164L|ANKHD1_ENST00000394723.3_Silent_p.L175L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L175L|ANKHD1_ENST00000297183.6_Silent_p.L175L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	175			L -> M (in dbSNP:rs17850570). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGAGACTGACATCCTCAG	0.473																																					p.L175L		Atlas-SNP	.											.	ANKHD1	233	.	0			c.G525A						PASS	.						212	189	197					5																	139818110		2203	4300	6503	SO:0001819	synonymous_variant	54882	exon3			GAGACTGACATCC	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.525G>A	5.37:g.139818110G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	109	19	0.174312	NM_024668	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1																																																																																			.	.	none		0.473	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139818110	G	A	139818110	2	1	17	1	0	0	0	0	0	0	0	1	628	1277	45	2		2	ANKHD1	5	139818110	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	102114964	139818110	41097150	43	4291										
PPP2R2B	5521	hgsc.bcm.edu	37	chr5	145979852	145979852	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	atgggtgcctggggttctatAcctggtaagtctcgatgggg	16	7	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr5:145979852A>C	ENST00000394413.3	-	7	1531		c.e7+1		PPP2R2B_ENST00000504198.1_Splice_Site|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Splice_Site|PPP2R2B_ENST00000453001.1_Splice_Site|PPP2R2B_ENST00000394410.2_Splice_Site|PPP2R2B_ENST00000356826.3_Splice_Site|PPP2R2B_ENST00000530902.1_Splice_Site|PPP2R2B_ENST00000394409.3_Splice_Site|PPP2R2B_ENST00000394411.4_Splice_Site|PPP2R2B_ENST00000508545.2_Splice_Site|PPP2R2B_ENST00000394414.1_Splice_Site			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTTCTATACCTGGTAAGT	0.483																																					.		Atlas-SNP	.											.	PPP2R2B	271	.	0			c.927+2T>G						PASS	.						153	150	151					5																	145979852		2203	4300	6503	SO:0001630	splice_region_variant	5521	exon9			TTCTATACCTGGT	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.960+1T>G	5.37:g.145979852A>C		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	131	36	0.274809	NM_001271948	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Splice_Site	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825202	0.71143	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000512984	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8924	0.79309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC011357.1	145960045	1.000000	0.71417	0.994000	0.49952	0.838000	0.47535	9.287000	0.95975	2.219000	0.72066	0.533000	0.62120	.	.	.	none		0.483	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678	Intron	C	145979852	A	C	145979852	5	2	17	1	0	0	0	0	0	0	1	0	12385	405	14	5	381	5	PPP2R2B	5	145979852	Splice_Site	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	6161742	145979852	34935408	44	4292										
IRF4	3662	hgsc.bcm.edu	37	chr6	393206	393206	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttcggcatgagcgcggtgagCtgcggcaacgggaagctccg	17	11	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:393206C>G	ENST00000380956.4	+	2	180	c.54C>G	c.(52-54)agC>agG	p.S18R	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	18					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S18R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCGCGGTGAGCTGCGGCAACG	0.706			T	IGH@	MM																																p.S18R		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	IRF4_ENST00000380956,NS,carcinoma,+2,4	IRF4	65	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C54G						scavenged	.						29	32	31					6																	393206		2179	4264	6443	SO:0001583	missense	3662	exon2			GGTGAGCTGCGGC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.54C>G	6.37:g.393206C>G	ENSP00000370343:p.Ser18Arg	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	67	22	0.328358	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064151	0.76187	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97752	-4.52	4.48	3.51	0.40186	Interferon regulatory factor DNA-binding domain (1);	0.429735	0.29579	N	0.011746	D	0.96775	0.8947	L	0.53729	1.69	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.69824	0.893;0.966;0.959	D	0.94663	0.7850	10	0.27785	T	0.31	-18.6481	7.4654	0.27318	0.0:0.7502:0.0:0.2498	.	18;18;18	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	R	18;48	ENSP00000370343:S18R	ENSP00000370343:S18R	S	+	3	2	IRF4	338206	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.305000	0.51873	2.339000	0.79563	0.306000	0.20318	AGC	.	.	none		0.706	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			G	393206	C	G	393206	3	3	17	1	0	0	0	0	1	0	0	0	7832	796	28	4	56	4	IRF4	6	393206	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		393206	170721861	45	4293			1	23		4	3	155	N	G_C_A	2.876313e-07
IRF4	3662	hgsc.bcm.edu	37	chr6	393328	393328	+	Missense_Mutation	SNP	A	A	G													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccctggaagcacgcgggcaAgcaggactacaaccgcgagg							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:393328A>G	ENST00000380956.4	+	2	302	c.176A>G	c.(175-177)aAg>aGg	p.K59R	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	59					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CACGCGGGCAAGCAGGACTAC	0.692			T	IGH@	MM																																p.K59R		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.A176G						PASS	.						29	26	27					6																	393328		2201	4300	6501	SO:0001583	missense	3662	exon2			CGGGCAAGCAGGA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.176A>G	6.37:g.393328A>G	ENSP00000370343:p.Lys59Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376789	0.82682	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97328	-4.34	4.58	4.58	0.56647	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.097786	0.64402	D	0.000001	D	0.94318	0.8174	L	0.27944	0.81	0.80722	D	1	P;P;D	0.54207	0.93;0.914;0.965	D;D;D	0.69307	0.945;0.909;0.963	D	0.92833	0.6282	10	0.05959	T	0.93	-29.4556	14.1683	0.65493	1.0:0.0:0.0:0.0	.	59;59;59	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	R	59;89	ENSP00000370343:K59R	ENSP00000370343:K59R	K	+	2	0	IRF4	338328	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.258000	0.89853	1.943000	0.56356	0.254000	0.18369	AAG	.	.	none		0.692	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			G	393328	A	G	393328	3	3	17	1	0	0	0	0	1	0	0	0	7832	72	3	3	178	3	IRF4	6	393328	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	122	393328	170721739	46	4294	76	2	1	23		4	3	155	N	G_C_A	2.876313e-07
IRF4	3662	hgsc.bcm.edu	37	chr6	393329	393329	+	Silent	SNP	G	G	A													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccctggaagcacgcgggcaaGcaggactacaaccgcgagga							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:393329G>A	ENST00000380956.4	+	2	303	c.177G>A	c.(175-177)aaG>aaA	p.K59K	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	59					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACGCGGGCAAGCAGGACTACA	0.692			T	IGH@	MM																																p.K59K		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.G177A						PASS	.						29	26	27					6																	393329		2201	4300	6501	SO:0001819	synonymous_variant	3662	exon2			GGGCAAGCAGGAC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.177G>A	6.37:g.393329G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	68	19	0.279412	NM_001195286	Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	CCDS4469.1																																																																																			.	.	none		0.692	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	393329	G	A	393329	2	1	17	1	0	0	0	0	0	0	0	1	7832	962	34	2		2	IRF4	6	393329	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1	393329	170721738	47	4295	76	2	1	23		4	3	155	N	G_C_A	2.876313e-07
IRF4	3662	hgsc.bcm.edu	37	chr6	393360	393360	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	accgcgaggaggacgccgcgCtcttcaaggtctccggcctc	13	16	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:393360C>G	ENST00000380956.4	+	2	334	c.208C>G	c.(208-210)Ctc>Gtc	p.L70V	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	70					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGACGCCGCGCTCTTCAAGGT	0.731			T	IGH@	MM																																p.L70V		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C208G						PASS	.						16	15	15					6																	393360		2194	4295	6489	SO:0001583	missense	3662	exon2			GCCGCGCTCTTCA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.208C>G	6.37:g.393360C>G	ENSP00000370343:p.Leu70Val	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	46	14	0.304348	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127190	0.94429	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97791	-4.54	4.58	4.58	0.56647	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.117485	0.64402	D	0.000014	D	0.97266	0.9106	L	0.37800	1.135	0.80722	D	1	P;P;P	0.41597	0.756;0.713;0.701	P;P;P	0.59948	0.866;0.789;0.866	D	0.97866	1.0283	10	0.48119	T	0.1	-23.7921	17.6301	0.88104	0.0:1.0:0.0:0.0	.	70;70;70	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	V	70;100	ENSP00000370343:L70V	ENSP00000370343:L70V	L	+	1	0	IRF4	338360	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	5.239000	0.65371	2.399000	0.81585	0.306000	0.20318	CTC	.	.	none		0.731	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			G	393360	C	G	393360	3	3	17	1	0	0	0	0	1	0	0	0	7832	797	28	4	210	4	IRF4	6	393360	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	31	393360	170721707	48	4296			1	23		4	3	155	N	G_C_A	2.876313e-07
FOXC1	2296	hgsc.bcm.edu	37	chr6	1610821	1610821	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccggcccccatgagcgtgtaCtcgcaccctgcgcacgccga	11	19	0	1	rs372857241		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:1610821C>G	ENST00000380874.2	+	1	141	c.141C>G	c.(139-141)taC>taG	p.Y47*		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	47					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TGAGCGTGTACTCGCACCCTG	0.751																																					p.Y47X	Pancreas(133;719 1821 3197 26645 35015)	Atlas-SNP	.											.	FOXC1	19	.	0			c.C141G						PASS	.						10	11	10					6																	1610821		2182	4269	6451	SO:0001587	stop_gained	2296	exon1			CGTGTACTCGCAC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.141C>G	6.37:g.1610821C>G	ENSP00000370256:p.Tyr47*	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	32	10	0.3125	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Nonsense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	c	36	5.748035	0.96882	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	.	.	.	3.33	3.33	0.38152	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7782	0.69746	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000370256:Y47X	Y	+	3	2	FOXC1	1555820	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.697000	0.37784	1.842000	0.53543	0.457000	0.33378	TAC	.	.	alt		0.751	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			G	1610821	C	G	1610821	4	3	17	1	0	0	0	0	0	1	0	0	5994	576	20	4	143	4	FOXC1	6	1610821	Nonsense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1217461	1610821	169504246	49	4297										
HIST1H2BC	8347	hgsc.bcm.edu	37	chr6	26123915	26123915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gggaagcctcgcccgcgatgCgctcaaatatgtcgttaacg	12	12	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:26123915C>T	ENST00000314332.5	-	1	223	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.R73H			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCCCGCGATGCGCTCAAATAT	0.577																																					p.R73H		Atlas-SNP	.											.	HIST1H2BC	35	.	0			c.G218A						PASS	.						125	122	123					6																	26123915		2203	4300	6503	SO:0001583	missense	8347	exon1			GCGATGCGCTCAA	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.218G>A	6.37:g.26123915C>T	ENSP00000321744:p.Arg73His	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	109	11	0.100917	NM_003526	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	18.43	3.621236	0.66787	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.69561	-0.41;-0.41	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.50650	0.1628	.	.	.	0.47862	D	0.999531	B	0.23316	0.083	B	0.19148	0.024	T	0.49093	-0.8975	8	0.49607	T	0.09	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	73	P62807	H2B1C_HUMAN	H	73	ENSP00000321744:R73H;ENSP00000380180:R73H	ENSP00000321744:R73H	R	-	2	0	HIST1H2BC	26231894	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.638000	0.83328	2.799000	0.96334	0.650000	0.86243	CGC	.	.	none		0.577	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		T	26123915	C	T	26123915	3	4	17	1	0	0	0	0	1	0	0	0	7142	768	27	1	166	1	HIST1H2BC	6	26123915	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	24513094	26123915	144991152	50	4298										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26157108	26157108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aggcgaagaagccggctgcaGctgctggagccaaaaaagcg	15	10	0	1	rs201935674	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:26157108G>A	ENST00000304218.3	+	1	550	c.490G>A	c.(490-492)Gct>Act	p.A164T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	164					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A164P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCGGCTGCAGCTGCTGGAGC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		12111	0.0		0.002	False		,,,				2504	0.0				p.A164T		Atlas-SNP	.											HIST1H1E,NS,lymphoid_neoplasm,-1,3	HIST1H1E	69	3	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G490A						PASS	.						15	21	19					6																	26157108		2192	4287	6479	SO:0001583	missense	3008	exon1			GCTGCAGCTGCTG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.490G>A	6.37:g.26157108G>A	ENSP00000307705:p.Ala164Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	70	20	0.285714	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	13.33	2.206374	0.39003	.	.	ENSG00000168298	ENST00000304218	T	0.04862	3.54	5.49	5.49	0.81192	.	0.133164	0.49916	D	0.000129	T	0.04543	0.0124	L	0.37697	1.125	0.49798	D	0.99982	P	0.48911	0.917	P	0.51297	0.665	T	0.11324	-1.0592	10	0.02654	T	1	-2.5382	18.7205	0.91691	0.0:0.0:1.0:0.0	.	164	P10412	H14_HUMAN	T	164	ENSP00000307705:A164T	ENSP00000307705:A164T	A	+	1	0	HIST1H1E	26265087	0.970000	0.33590	0.822000	0.32727	0.970000	0.65996	2.285000	0.43487	2.723000	0.93209	0.655000	0.94253	GCT	G|0.999;A|0.001	0.001	strong		0.597	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26157108	G	A	26157108	3	1	17	1	0	0	0	0	1	0	0	0	7126	971	34	2	492	2	HIST1H1E	6	26157108	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	33193	26157108	144957959	51	4299										
HIST1H2AI	8329	hgsc.bcm.edu	37	chr6	27776072	27776072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccgggcttcagtttcccgtaGgccgagtgcatcgcctgctc	12	15	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:27776072G>A	ENST00000358739.3	+	1	174	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	HIST1H2BL_ENST00000377401.2_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	29						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GTTTCCCGTAGGCCGAGTGCA	0.652																																					p.G29S		Atlas-SNP	.											.	HIST1H2AI	9	.	0			c.G85A						PASS	.						30	37	34					6																	27776072		2184	4292	6476	SO:0001583	missense	8329	exon1			CCCGTAGGCCGAG	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"Histones / Replication-dependent"	4725	protein-coding gene	gene with protein product		602787	"H2A histone family, member C", "histone 1, H2ai"	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.85G>A	6.37:g.27776072G>A	ENSP00000351589:p.Gly29Ser	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	272	20	0.0735294	NM_003509	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.577988	0.65878	.	.	ENSG00000196747	ENST00000358739	T	0.44083	0.93	4.53	4.53	0.55603	.	0.000000	0.41001	D	0.000970	T	0.54647	0.1871	.	.	.	0.47905	D	0.999543	.	.	.	.	.	.	T	0.61128	-0.7125	7	0.87932	D	0	.	17.2005	0.86904	0.0:0.0:1.0:0.0	.	.	.	.	S	29	ENSP00000351589:G29S	ENSP00000351589:G29S	G	+	1	0	HIST1H2AI	27884051	1.000000	0.71417	0.998000	0.56505	0.144000	0.21451	8.900000	0.92551	2.458000	0.83093	0.556000	0.70494	GGC	.	.	none		0.652	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		A	27776072	G	A	27776072	3	1	17	1	0	0	0	0	1	0	0	0	7135	1000	35	2	87	2	HIST1H2AI	6	27776072	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1618964	27776072	143338995	52	4300										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238925	31238925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gcacgtgccctccaggtaggCtctcagctgctccgccgcac	11	18	1	0	rs141142418	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:31238925C>T	ENST00000376228.5	-	3	558	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	HLA-C_ENST00000383329.3_Missense_Mutation_p.A182T	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	182	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCCAGGTAGGCTCTCAGCTGC	0.697																																					p.A182T		Atlas-SNP	.											.	HLA-C	92	.	0			c.G544A						PASS	.	C	THR/ALA	47,4349		0,47,2151	47	33	38		544	-2.6	0	6	dbSNP_134	38	265,8319		0,265,4027	no	missense	HLA-C	NM_002117.5	58	0,312,6178	TT,TC,CC		3.0871,1.0692,2.4037	possibly-damaging	182/367	31238925	312,12668	2198	4292	6490	SO:0001583	missense	3107	exon3			GGTAGGCTCTCAG	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.544G>A	6.37:g.31238925C>T	ENSP00000365402:p.Ala182Thr	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	99	26	0.262626	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.87|12.87	2.068156|2.068156	0.36470|0.36470	0.010692|0.010692	0.030871|0.030871	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00816|.	5.66;5.66|.	2.81|2.81	-2.58|-2.58	0.06228|0.06228	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.179000|.	0.06837|.	U|.	0.795036|.	T|T	0.22044|0.22044	0.0531|0.0531	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	P;P;P;P|.	0.43938|.	0.822;0.684;0.713;0.822|.	P;B;B;B|.	0.46389|.	0.515;0.293;0.419;0.419|.	T|T	0.38222|0.38222	-0.9671|-0.9671	10|5	0.40728|.	T|.	0.16|.	.|.	0.9152|0.9152	0.01303|0.01303	0.1642:0.2513:0.162:0.4225|0.1642:0.2513:0.162:0.4225	.|.	182;182;182;182|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	T|N	182;182;182;219|181	ENSP00000365402:A182T;ENSP00000372819:A182T|.	ENSP00000365402:A182T|.	A|S	-|-	1|2	0|0	HLA-C|HLA-C	31346904|31346904	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.272000|-1.272000	0.02826|0.02826	-0.698000|-0.698000	0.05085|0.05085	0.305000|0.305000	0.20034|0.20034	GCC|AGC	C|0.971;T|0.029	0.029	strong		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31238925	C	T	31238925	3	4	17	1	0	0	0	0	1	0	0	0	7197	797	28	2	580	2	HLA-C	6	31238925	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	3462853	31238925	139876142	53	4301										
TNF	7124	hgsc.bcm.edu	37	chr6	31544592	31544592	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gcctgtagcccatgttgtagGtaagagctctgaggatgtgt	14	7	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:31544592G>C	ENST00000449264.2	+	3	455		c.e3+1			NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	CATGTTGTAGGTAAGAGCTCT	0.483									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												.		Atlas-SNP	.											.	TNF	15	.	0			c.280+1G>C						PASS	.						192	191	191					6																	31544592		1511	2709	4220	SO:0001630	splice_region_variant	7124	exon3	Familial Cancer Database	incl.: Familial Head and Neck Cancer	TTGTAGGTAAGAG	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.280+1G>C	6.37:g.31544592G>C		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	164	61	0.371951	NM_000594	O43647|Q9P1Q2|Q9UIV3	Splice_Site	SNP	ENST00000449264.2	37	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666938	0.67814	.	.	ENSG00000232810	ENST00000449264	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1679	0.59581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNF	31652571	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.530000	0.60595	2.490000	0.84030	0.655000	0.94253	.	.	.	none		0.483	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2		Intron	C	31544592	G	C	31544592	5	2	17	1	0	0	0	0	0	0	1	0	16268	1275	44	4	291	4	TNF	6	31544592	Splice_Site	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	305667	31544592	139570475	54	4302										
C6orf48	50854	hgsc.bcm.edu	37	chr6	31805113	31805113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaatctccccctcatggagaGaagctttgtatggctgtcat	10	10	3	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:31805113G>A	ENST00000375640.3	+	3	735	c.8G>A	c.(7-9)aGa>aAa	p.R3K	C6orf48_ENST00000375638.3_Missense_Mutation_p.R3K|C6orf48_ENST00000375635.2_Missense_Mutation_p.R3K|C6orf48_ENST00000375642.2_Missense_Mutation_p.R3K|SNORD52_ENST00000364884.1_RNA|C6orf48_ENST00000395789.1_Missense_Mutation_p.R3K|C6orf48_ENST00000375639.2_Missense_Mutation_p.R3K|SNORD48_ENST00000364953.1_RNA|C6orf48_ENST00000375641.2_Missense_Mutation_p.R3K|C6orf48_ENST00000375633.1_Missense_Mutation_p.R3K|C6orf48_ENST00000395788.3_Missense_Mutation_p.R3K	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	3										breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CTCATGGAGAGAAGCTTTGTA	0.502																																					p.R3K		Atlas-SNP	.											.	C6orf48	8	.	0			c.G8A						PASS	.						219	180	193					6																	31805113		2203	4300	6503	SO:0001583	missense	50854	exon4			TGGAGAGAAGCTT	AJ249732	CCDS34416.1	6p21.33	2011-12-13			ENSG00000204387	ENSG00000204387			19078	protein-coding gene	gene with protein product		605447				8096093	Standard	NM_001287483		Approved	D6S57, G8	uc003rjy.2	Q9UBA6	OTTHUMG00000031175	ENST00000375640.3:c.8G>A	6.37:g.31805113G>A	ENSP00000364791:p.Arg3Lys	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	258	69	0.267442	NM_001040437	Q9BW21|Q9UBA7|Q9UBA8	Missense_Mutation	SNP	ENST00000375640.3	37	CCDS34416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.554|8.554	0.876186|0.876186	0.17395|0.17395	.|.	.|.	ENSG00000204387|ENSG00000204387	ENST00000375636|ENST00000375640;ENST00000375641;ENST00000375639;ENST00000375638;ENST00000375635;ENST00000375642;ENST00000395789;ENST00000375633;ENST00000395788	.|.	.|.	.|.	3.29|3.29	-1.64|-1.64	0.08318|0.08318	.|.	.|.	.|.	.|.	.|.	T|T	0.11750|0.11750	0.0286|0.0286	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.06405	.|0.002	T|T	0.35895|0.35895	-0.9770|-0.9770	4|7	.|0.87932	.|D	.|0	.|.	5.6811|5.6811	0.17776|0.17776	0.4984:0.3626:0.139:0.0|0.4984:0.3626:0.139:0.0	.|.	.|3	.|Q9UBA6	.|G8_HUMAN	K|K	118|3	.|.	.|ENSP00000364784:R3K	E|R	+|+	1|2	0|0	C6orf48|C6orf48	31913092|31913092	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.151000|0.151000	0.16283|0.16283	-0.327000|-0.327000	0.08551|0.08551	-0.165000|-0.165000	0.13383|0.13383	GAA|AGA	.	.	none		0.502	C6orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076332.2	NM_001040437		A	31805113	G	A	31805113	3	1	17	1	0	0	0	0	1	0	0	0	2365	942	33	2	10	2	C6orf48	6	31805113	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	260521	31805113	139309954	55	4303										
FKBP5	2289	hgsc.bcm.edu	37	chr6	35610531	35610531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tgtcttttttggaggtaataTcctctccctgctcagcaaca	7	11	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:35610531T>G	ENST00000539068.1	-	2	273	c.71A>C	c.(70-72)gAt>gCt	p.D24A	FKBP5_ENST00000536438.1_Missense_Mutation_p.D24A|FKBP5_ENST00000357266.4_Missense_Mutation_p.D24A|FKBP5_ENST00000542713.1_Missense_Mutation_p.D24A|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	24					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GGAGGTAATATCCTCTCCCTG	0.438																																					p.D24A		Atlas-SNP	.											.	FKBP5	64	.	0			c.A71C						PASS	.						196	191	192					6																	35610531		2203	4300	6503	SO:0001583	missense	2289	exon3			GTAATATCCTCTC	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.71A>C	6.37:g.35610531T>G	ENSP00000441205:p.Asp24Ala	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	278	111	0.399281	NM_001145775	F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	CCDS4808.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.54|17.54|17.54	3.415111|3.415111|3.415111	0.62511|0.62511|0.62511	.|.|.	.|.|.	ENSG00000096060|ENSG00000096060|ENSG00000096060	ENST00000543400|ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000542713|ENST00000373875	.|D;D;D;T|.	.|0.83250|.	.|-1.7;-1.7;-1.7;-1.44|.	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|.|.	.|0.108693|.	.|0.64402|.	.|D|.	.|0.000006|.	.|T|T	.|0.61974|0.61974	.|0.2390|0.2390	M|M|M	0.63843|0.63843|0.63843	1.955|1.955|1.955	0.54753|0.54753|0.54753	D|D|D	0.999985|0.999985|0.999985	.|B;B|.	.|0.26512|.	.|0.001;0.151|.	.|B;B|.	.|0.20184|.	.|0.002;0.028|.	.|T|T	.|0.62163|0.62163	.|-0.6912|-0.6912	.|10|6	.|0.54805|0.34782	.|T|T	.|0.06|0.22	.|-2.376|-2.376	13.9469|13.9469|13.9469	0.64091|0.64091|0.64091	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|24;24|.	.|F5H7R1;Q13451|.	.|.;FKBP5_HUMAN|.	.|A|L	-1|24|23	.|ENSP00000444810:D24A;ENSP00000349811:D24A;ENSP00000441205:D24A;ENSP00000442340:D24A|.	.|ENSP00000338160:D24A|ENSP00000362982:I23L	.|D|I	-|-|-	.|2|1	.|0|0	FKBP5|FKBP5|FKBP5	35718509|35718509|35718509	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.903000|0.903000|0.903000	0.53119|0.53119|0.53119	6.180000|6.180000|6.180000	0.71981|0.71981|0.71981	2.279000|2.279000|2.279000	0.76181|0.76181|0.76181	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	.|GAT|ATA	.	.	none		0.438	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			G	35610531	T	G	35610531	3	3	17	1	0	0	0	0	1	0	0	0	5911	1435	50	5	1400	5	FKBP5	6	35610531	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	3805418	35610531	135504536	56	4304										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138392	37138392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctcgcttgcccacctgcgcgCcgcgccctgcaacgacctgc	10	21	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37138392C>T	ENST00000373509.5	+	1	414	c.41C>T	c.(40-42)gCc>gTc	p.A14V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	105					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CACCTGCGCGCCGCGCCCTGC	0.716			T	BCL6	NHL																																p.A105V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,right_lower_lobe,carcinoma,-1,1	PIM1	71	1	0			c.C314T						scavenged	.						27	28	28					6																	37138392		2201	4297	6498	SO:0001583	missense	5292	exon1			TGCGCGCCGCGCC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.41C>T	6.37:g.37138392C>T	ENSP00000362608:p.Ala14Val	Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	98	30	0.306122	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936460	0.52972	.	.	ENSG00000137193	ENST00000373509	T	0.69435	-0.4	4.2	4.2	0.49525	.	0.605746	0.14689	N	0.304266	T	0.21186	0.0510	N	0.08118	0	0.32695	N	0.513601	P	0.38020	0.615	B	0.24006	0.05	T	0.02844	-1.1103	10	0.16420	T	0.52	.	12.2313	0.54490	0.1706:0.8294:0.0:0.0	.	105	P11309	PIM1_HUMAN	V	14	ENSP00000362608:A14V	ENSP00000362608:A14V	A	+	2	0	PIM1	37246370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.287000	0.51732	2.289000	0.77006	0.542000	0.68232	GCC	.	.	none		0.716	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138392	C	T	37138392	3	4	17	1	0	0	0	0	1	0	0	0	11927	739	26	2	43	2	PIM1	6	37138392	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1527861	37138392	133976675	57	4305			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138416	37138416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gccctgcaacgacctgcacgCcaccaagctggcgcccggtg	12	18	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37138416C>T	ENST00000373509.5	+	1	438	c.65C>T	c.(64-66)gCc>gTc	p.A22V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	113					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GACCTGCACGCCACCAAGCTG	0.736			T	BCL6	NHL																																p.A113V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C338T						PASS	.						24	26	26					6																	37138416		2199	4293	6492	SO:0001583	missense	5292	exon1			TGCACGCCACCAA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.65C>T	6.37:g.37138416C>T	ENSP00000362608:p.Ala22Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	12	0.15	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562878	0.27915	.	.	ENSG00000137193	ENST00000373509	T	0.69175	-0.38	4.2	3.32	0.38043	.	0.485099	0.18021	N	0.154227	T	0.22551	0.0544	N	0.08118	0	0.28270	N	0.924459	B	0.25441	0.126	B	0.17979	0.02	T	0.05818	-1.0862	10	0.20046	T	0.44	.	10.0767	0.42364	0.0:0.9018:0.0:0.0982	.	113	P11309	PIM1_HUMAN	V	22	ENSP00000362608:A22V	ENSP00000362608:A22V	A	+	2	0	PIM1	37246394	0.226000	0.23696	0.998000	0.56505	0.958000	0.62258	1.274000	0.33132	2.289000	0.77006	0.542000	0.68232	GCC	.	.	none		0.736	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138416	C	T	37138416	3	4	17	1	0	0	0	0	1	0	0	0	11927	739	26	2	67	2	PIM1	6	37138416	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	24	37138416	133976651	58	4306			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138609	37138609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccgctactgggcagcggcgGcttcggctcggtctactcag	14	15	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37138609G>A	ENST00000373509.5	+	2	516	c.143G>A	c.(142-144)gGc>gAc	p.G48D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	139					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGCAGCGGCGGCTTCGGCTCG	0.736			T	BCL6	NHL																																p.G139D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G416A						PASS	.						20	30	27					6																	37138609		2169	4264	6433	SO:0001583	missense	5292	exon2			GCGGCGGCTTCGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.143G>A	6.37:g.37138609G>A	ENSP00000362608:p.Gly48Asp	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	106	19	0.179245	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111530	0.77210	.	.	ENSG00000137193	ENST00000373509	T	0.16073	2.37	4.64	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.28001	0.0690	H	0.95294	3.65	0.48762	D	0.999708	P	0.43826	0.818	P	0.49387	0.609	T	0.17684	-1.0361	10	0.87932	D	0	.	9.1477	0.36944	0.0781:0.0:0.7761:0.1459	.	139	P11309	PIM1_HUMAN	D	48	ENSP00000362608:G48D	ENSP00000362608:G48D	G	+	2	0	PIM1	37246587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.992000	0.70609	0.485000	0.27652	0.549000	0.68633	GGC	.	.	none		0.736	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138609	G	A	37138609	3	1	17	1	0	0	0	0	1	0	0	0	11927	1203	42	2	149	2	PIM1	6	37138609	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	193	37138609	133976458	59	4307			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138908	37138908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctcgcccctgcagcctaatgGcactcgagtgcccatggaag	11	15	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37138908G>A	ENST00000373509.5	+	4	621	c.248G>A	c.(247-249)gGc>gAc	p.G83D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	174					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGCCTAATGGCACTCGAGTG	0.662			T	BCL6	NHL																																p.G174D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	0			c.G521A						PASS	.						50	57	54					6																	37138908		2203	4300	6503	SO:0001583	missense	5292	exon4			CTAATGGCACTCG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.248G>A	6.37:g.37138908G>A	ENSP00000362608:p.Gly83Asp	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	61	14	0.229508	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506654	0.64410	.	.	ENSG00000137193	ENST00000373509	T	0.64991	-0.13	4.28	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.315172	0.28327	N	0.015753	T	0.38026	0.1025	N	0.25485	0.75	0.58432	D	0.999999	B	0.18166	0.026	B	0.20184	0.028	T	0.34304	-0.9834	10	0.45353	T	0.12	.	16.8746	0.86048	0.0:0.0:1.0:0.0	.	174	P11309	PIM1_HUMAN	D	83	ENSP00000362608:G83D	ENSP00000362608:G83D	G	+	2	0	PIM1	37246886	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	2.371000	0.80710	0.549000	0.68633	GGC	.	.	none		0.662	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138908	G	A	37138908	3	1	17	1	0	0	0	0	1	0	0	0	11927	1203	42	2	262	2	PIM1	6	37138908	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	299	37138908	133976159	60	4308			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37138919	37138919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agcctaatggcactcgagtgCccatggaagtggtcctgctg	13	11	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37138919C>T	ENST00000373509.5	+	4	632	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	178					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CACTCGAGTGCCCATGGAAGT	0.657			T	BCL6	NHL																																p.P178S		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C532T						PASS	.						58	66	63					6																	37138919		2203	4300	6503	SO:0001583	missense	5292	exon4			CGAGTGCCCATGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.259C>T	6.37:g.37138919C>T	ENSP00000362608:p.Pro87Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	63	11	0.174603	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182069	0.78677	.	.	ENSG00000137193	ENST00000373509	T	0.13307	2.6	4.28	3.41	0.39046	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065293	0.64402	N	0.000006	T	0.15696	0.0378	L	0.52905	1.665	0.58432	D	0.999994	P	0.51537	0.946	P	0.56612	0.802	T	0.01042	-1.1471	10	0.87932	D	0	.	12.2367	0.54520	0.0:0.9151:0.0:0.0849	.	178	P11309	PIM1_HUMAN	S	87	ENSP00000362608:P87S	ENSP00000362608:P87S	P	+	1	0	PIM1	37246897	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.764000	0.68826	1.146000	0.42352	0.549000	0.68633	CCC	.	.	none		0.657	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138919	C	T	37138919	3	4	17	1	0	0	0	0	1	0	0	0	11927	739	26	2	273	2	PIM1	6	37138919	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	11	37138919	133976148	61	4309			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139042	37139042	+	Missense_Mutation	SNP	G	G	A													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agaggcccgagccggtgcaaGatctcttcgacttcatcacg							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37139042G>A	ENST00000373509.5	+	4	755	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	219					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCCGGTGCAAGATCTCTTCGA	0.622			T	BCL6	NHL																																p.D219N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G655A						PASS	.						81	95	91					6																	37139042		2203	4300	6503	SO:0001583	missense	5292	exon4			GTGCAAGATCTCT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.382G>A	6.37:g.37139042G>A	ENSP00000362608:p.Asp128Asn	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	125	57	0.456	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857582	0.91433	.	.	ENSG00000137193	ENST00000373509	T	0.15603	2.41	4.28	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.42008	1.315	0.80722	D	1	D	0.53745	0.962	P	0.62885	0.908	T	0.02081	-1.1217	10	0.87932	D	0	.	16.8746	0.86048	0.0:0.0:1.0:0.0	.	219	P11309	PIM1_HUMAN	N	128	ENSP00000362608:D128N	ENSP00000362608:D128N	D	+	1	0	PIM1	37247020	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.149000	0.94659	2.371000	0.80710	0.549000	0.68633	GAT	.	.	none		0.622	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139042	G	A	37139042	3	1	17	1	0	0	0	0	1	0	0	0	11927	942	33	2	396	2	PIM1	6	37139042	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	123	37139042	133976025	62	4310	77	2	2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139046	37139047	+	In_Frame_Ins	INS	-	-	CTTCGA													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccgagccggtgcaagatctINScttcgacttcatcacggaaa							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37139046_37139047insCTTCGA	ENST00000373509.5	+	4	759_760	c.386_387insCTTCGA	c.(385-390)ctcttc>ctCTTCGActtc	p.132_133insDF		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GTGCAAGATCTCTTCGACTTCA	0.634			T	BCL6	NHL																																p.L220delinsLFD		Atlas-Indel	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.659_660insCTTCGA						PASS	.																																			SO:0001652	inframe_insertion	5292	exon4			.		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.387_392dupCTTCGA	6.37:g.37139047_37139052dupCTTCGA	ENSP00000362608:p.Asp131_Phe132dup	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	123	14	0.113821	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	In_Frame_Ins	INS	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.634	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			CTTCGA	37139047	-	CTTCGA	37139046	7	5	17	1	0	1	1	0	0	0	0	0	11927	1551	54	0	400	0	PIM1	6	37139046	In_Frame_Ins	INS	-	TCGA-FF-A7CQ-01A-11D-A382-10	4	37139046	133976021	63	4311	77	2	2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139063	37139063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	atctcttcgacttcatcacgGaaaggggagccctgcaagag	11	11	3	1	rs200523275	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37139063G>A	ENST00000373509.5	+	4	776	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTTCATCACGGAAAGGGGAGC	0.637			T	BCL6	NHL								G|||	2	0.000399361	0.0	0.0	5008	,	,		15869	0.002		0.0	False		,,,				2504	0.0				p.E226K		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,2	PIM1	71	2	0			c.G676A						PASS	.						75	88	84					6																	37139063		2203	4300	6503	SO:0001583	missense	5292	exon4			ATCACGGAAAGGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.403G>A	6.37:g.37139063G>A	ENSP00000362608:p.Glu135Lys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	125	22	0.176	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.719704	0.48728	.	.	ENSG00000137193	ENST00000373509	T	0.64991	-0.13	4.58	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128681	0.50627	D	0.000105	T	0.32675	0.0837	N	0.03253	-0.375	0.54753	D	0.999988	B	0.23128	0.08	B	0.34093	0.175	T	0.45991	-0.9223	10	0.72032	D	0.01	.	17.1751	0.86839	0.0:0.0:1.0:0.0	.	226	P11309	PIM1_HUMAN	K	135	ENSP00000362608:E135K	ENSP00000362608:E135K	E	+	1	0	PIM1	37247041	1.000000	0.71417	0.929000	0.37066	0.060000	0.15804	9.205000	0.95048	2.371000	0.80710	0.549000	0.68633	GAA	G|1.000;A|0.000	0.000	strong		0.637	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139063	G	A	37139063	3	1	17	1	0	0	0	0	1	0	0	0	11927	1175	41	2	417	2	PIM1	6	37139063	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	17	37139063	133976004	64	4312			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
PIM1	5292	hgsc.bcm.edu	37	chr6	37139203	37139203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	atcgacctcaatcgcggcgaGctcaagctcatcgacttcgg	10	14	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37139203G>A	ENST00000373509.5	+	4	916	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.E181D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATCGCGGCGAGCTCAAGCTCA	0.637			T	BCL6	NHL																																p.E272E		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G816A						PASS	.						32	33	32					6																	37139203		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			CGGCGAGCTCAAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.543G>A	6.37:g.37139203G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	96	21	0.21875	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.637	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139203	G	A	37139203	2	1	17	1	0	0	0	0	0	0	0	1	11927	962	34	2		2	PIM1	6	37139203	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	140	37139203	133975864	65	4313			2	24	36745032	9	8	812	N	G_C_-	3.202431e-21
MDGA1	266727	hgsc.bcm.edu	37	chr6	37605198	37605198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggcccccacagctgtgggctGgactggcagggggctccact	16	14	0	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:37605198G>A	ENST00000434837.3	-	17	3992	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	MDGA1_ENST00000297153.7_Silent_p.S942S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	938					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCTGTGGGCTGGACTGGCAGG	0.652																																					p.S938S		Atlas-SNP	.											.	MDGA1	104	.	0			c.C2814T						PASS	.						38	43	41					6																	37605198		2029	4182	6211	SO:0001819	synonymous_variant	266727	exon17			TGGGCTGGACTGG	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2814C>T	6.37:g.37605198G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	105	47	0.447619	NM_153487	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																			.	.	none		0.652	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			A	37605198	G	A	37605198	2	1	17	1	0	0	0	0	0	0	0	1	9406	1335	47	2		2	MDGA1	6	37605198	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	465995	37605198	133509869	66	4314										
NFYA	4800	hgsc.bcm.edu	37	chr6	41060751	41060751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctacgtgaatgccaaacaatAccaccgtattcttaagagga	7	10	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:41060751A>G	ENST00000341376.6	+	8	1016	c.815A>G	c.(814-816)tAc>tGc	p.Y272C	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.Y243C	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	272					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAAACAATACCACCGTATT	0.478																																					p.Y272C		Atlas-SNP	.											.	NFYA	33	.	0			c.A815G						PASS	.						108	102	104					6																	41060751		2203	4300	6503	SO:0001583	missense	4800	exon8			AACAATACCACCG		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.815A>G	6.37:g.41060751A>G	ENSP00000345702:p.Tyr272Cys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	127	53	0.417323	NM_002505	Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674529	0.88445	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.88	5.88	0.94601	CCAAT-binding factor, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87194	0.2236	9	0.87932	D	0	0.0035	15.4635	0.75381	1.0:0.0:0.0:0.0	.	243;272	P23511-2;P23511	.;NFYA_HUMAN	C	272;243	.	ENSP00000345702:Y272C	Y	+	2	0	NFYA	41168729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.237000	0.95368	2.250000	0.74265	0.533000	0.62120	TAC	.	.	none		0.478	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			G	41060751	A	G	41060751	3	3	17	1	0	0	0	0	1	0	0	0	10389	391	14	2	841	2	NFYA	6	41060751	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	3455553	41060751	130054316	67	4315										
TRDN	10345	hgsc.bcm.edu	37	chr6	123869636	123869636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcaccatcatcatcttcttcAtcttcagatgagatgatgtc	5	11	8	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:123869636A>G	ENST00000398178.3	-	3	375	c.354T>C	c.(352-354)gaT>gaC	p.D118D	TRDN_ENST00000546248.1_Silent_p.D118D|TRDN_ENST00000334268.4_Silent_p.D118D|TRDN_ENST00000542443.1_Silent_p.D118D	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	118					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CATCTTCTTCATCTTCAGATG	0.378																																					p.D118D		Atlas-SNP	.											.	TRDN	88	.	0			c.T354C						PASS	.						61	60	60					6																	123869636		1871	4103	5974	SO:0001819	synonymous_variant	10345	exon3			TTCTTCATCTTCA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.354T>C	6.37:g.123869636A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	103	26	0.252427	NM_001256022	A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	CCDS55053.1																																																																																			.	.	none		0.378	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	123869636	A	G	123869636	2	3	17	1	0	0	0	0	0	0	0	1	16465	214	8	2		2	TRDN	6	123869636	Silent	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	82808885	123869636	47245431	68	4316										
IL22RA2	116379	hgsc.bcm.edu	37	chr6	137468925	137468926	+	Frame_Shift_Ins	INS	-	-	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agtaatcttctatagatacaINStttttttccttttggtatct							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:137468925_137468926insT	ENST00000296980.2	-	6	875_876	c.575_576insA	c.(574-576)aatfs	p.N192fs	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Frame_Shift_Ins_p.N160fs	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	192	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTATAGATACATTTTTTTCCTT	0.292																																					p.N192fs		Atlas-Indel	.											.	IL22RA2	17	.	0			c.576_577insA						PASS	.																																			SO:0001589	frameshift_variant	116379	exon6			.	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"Interleukins and interleukin receptors"	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.576dupA	6.37:g.137468932_137468932dupT	ENSP00000296980:p.Asn192fs	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	248	51	0.205645	NM_052962	Q08AH7|Q6UWM1|Q96A41|Q96QR0	Frame_Shift_Ins	INS	ENST00000296980.2	37	CCDS5182.1																																																																																			.	.	none		0.292	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			T	137468926	-	T	137468925	7	5	17	1	0	1	1	0	0	0	0	0	7674	214	8	0	223	0	IL22RA2	6	137468925	Frame_Shift_Ins	INS	-	TCGA-FF-A7CQ-01A-11D-A382-10	13599289	137468925	33646142	69	4317										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138528237	138528237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccaagaatgtgaagctggccCaacatgctttggcagggatg	13	9	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr6:138528237C>A	ENST00000251691.4	+	3	362	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGCTGGCCCAACATGCTTT	0.453																																					p.Q66K		Atlas-SNP	.											.	KIAA1244	236	.	0			c.C196A						PASS	.						91	78	82					6																	138528237		2203	4300	6503	SO:0001583	missense	57221	exon3			CTGGCCCAACATG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.196C>A	6.37:g.138528237C>A	ENSP00000251691:p.Gln66Lys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	85	18	0.211765	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414067	0.83449	.	.	ENSG00000112379	ENST00000251691	T	0.17370	2.28	5.77	5.77	0.91146	.	.	.	.	.	T	0.22742	0.0549	L	0.29908	0.895	0.58432	D	0.999997	D	0.63880	0.993	D	0.67548	0.952	T	0.01156	-1.1434	9	0.41790	T	0.15	-13.1881	19.9944	0.97379	0.0:1.0:0.0:0.0	.	66	Q5TH69	BIG3_HUMAN	K	66	ENSP00000251691:Q66K	ENSP00000251691:Q66K	Q	+	1	0	KIAA1244	138569930	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.262000	0.78410	2.720000	0.93068	0.557000	0.71058	CAA	.	.	none		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138528237	C	A	138528237	3	1	17	1	0	0	0	0	1	0	0	0	8217	595	21	4	206	4	KIAA1244	6	138528237	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1059312	138528237	32586830	70	4318										
SDK1	221935	hgsc.bcm.edu	37	chr7	4153851	4153851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctgcagatgcaggccttcaaCgccgtcggggctgggccgtg	16	13	1	1	rs549888988	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:4153851C>T	ENST00000404826.2	+	25	3907	c.3768C>T	c.(3766-3768)aaC>aaT	p.N1256N	SDK1_ENST00000389531.3_Silent_p.N1256N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1256	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCCTTCAACGCCGTCGGGG	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		16102	0.0		0.0	False		,,,				2504	0.002				p.N1256N		Atlas-SNP	.											.	SDK1	361	.	0			c.C3768T						PASS	.						36	35	35					7																	4153851		2203	4300	6503	SO:0001819	synonymous_variant	221935	exon25			CTTCAACGCCGTC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3768C>T	7.37:g.4153851C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	94	32	0.340426	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																			.	.	none		0.632	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4153851	C	T	4153851	2	4	17	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4153851	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		4153851	154984812	71	4319										
POM121	9883	hgsc.bcm.edu	37	chr7	72412793	72412793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccttcagtcacagccacagCgccctccagctcctccctcc	5	23	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:72412793C>T	ENST00000434423.2	+	11	2261	c.2261C>T	c.(2260-2262)gCg>gTg	p.A754V	POM121_ENST00000257622.4_Missense_Mutation_p.A489V|POM121_ENST00000395270.1_Missense_Mutation_p.A489V|POM121_ENST00000358357.3_Missense_Mutation_p.A489V|POM121_ENST00000446813.1_Missense_Mutation_p.A489V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	754	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A489V(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACAGCCACAGCGCCCTCCAGC	0.627																																					p.A489V		Atlas-SNP	.											POM121_ENST00000395270,NS,carcinoma,0,2	POM121	131	2	2	Substitution - Missense(2)	endometrium(2)	c.C1466T						scavenged	.						1	1	1					7																	72412793		316	645	961	SO:0001583	missense	9883	exon11			CCACAGCGCCCTC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2261C>T	7.37:g.72412793C>T	ENSP00000405562:p.Ala754Val	Somatic	420	1	0.00238095		WXS	Illumina HiSeq	Phase_I	437	4	0.00915332	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311754	0.40895	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.08896	3.04;3.08;3.04;3.08;3.29	2.4	1.48	0.22813	.	0.665551	0.12357	N	0.475989	T	0.08582	0.0213	L	0.55743	1.74	0.09310	N	1	P;D	0.53619	0.801;0.961	B;B	0.42692	0.059;0.395	T	0.27938	-1.0059	10	0.31617	T	0.26	.	5.9203	0.19078	0.0:0.7257:0.0:0.2743	.	489;754	A8MXF9;Q96HA1	.;P121A_HUMAN	V	489;489;489;489;754	ENSP00000393020:A489V;ENSP00000257622:A489V;ENSP00000378687:A489V;ENSP00000351124:A489V;ENSP00000405562:A754V	ENSP00000257622:A489V	A	+	2	0	POM121	72050729	0.001000	0.12720	0.001000	0.08648	0.482000	0.33219	1.067000	0.30616	1.335000	0.45486	0.173000	0.16961	GCG	.	.	none		0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			T	72412793	C	T	72412793	3	4	17	1	0	0	0	0	1	0	0	0	12239	768	27	1	1504	1	POM121	7	72412793	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	68258942	72412793	86725870	72	4320										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99219100	99219100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaggtcaagcctgaatggggGatgccccctggggaaggagt	18	8	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:99219100G>A	ENST00000394152.2	+	5	819	c.492G>A	c.(490-492)ggG>ggA	p.G164G	ZSCAN25_ENST00000334715.3_Silent_p.G164G|ZSCAN25_ENST00000262941.6_Silent_p.G164G|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	164					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)										CTGAATGGGGGATGCCCCCTG	0.627																																					p.G164G		Atlas-SNP	.											.	.	.	.	0			c.G492A						PASS	.						65	61	62					7																	99219100		2203	4300	6503	SO:0001819	synonymous_variant	221785	exon5			ATGGGGGATGCCC	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.492G>A	7.37:g.99219100G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	83	31	0.373494	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	CCDS5671.2																																																																																			.	.	none		0.627	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		A	99219100	G	A	99219100	2	1	17	1	0	0	0	0	0	0	0	1	17944	1161	41	2		2	ZNF498	7	99219100	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	26806307	99219100	59919563	73	4321										
TMEM168	64418	hgsc.bcm.edu	37	chr7	112415375	112415375	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agaaaattccatttgttggcTaaaagaaatccaaaacatgt	6	6	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:112415375T>C	ENST00000312814.6	-	3	1689		c.e3-2		TMEM168_ENST00000480969.1_Splice_Site|TMEM168_ENST00000454074.1_Splice_Site	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATTTGTTGGCTAAAAGAAATC	0.338																																					.		Atlas-SNP	.											.	TMEM168	84	.	0			c.1129-2A>G						PASS	.						59	54	56					7																	112415375		2203	4300	6503	SO:0001630	splice_region_variant	64418	exon4			GTTGGCTAAAAGA		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1129-2A>G	7.37:g.112415375T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	4	0.0555556	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Splice_Site	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262067	0.80358	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.556	0.76192	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM168	112202611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.101000	0.76997	2.146000	0.66826	0.533000	0.62120	.	.	.	none		0.338	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	Intron	C	112415375	T	C	112415375	5	2	17	1	0	0	0	0	0	0	1	0	16080	1536	53	3	978	3	TMEM168	7	112415375	Splice_Site	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	13196275	112415375	46723288	74	4322										
AKR1B15	441282	hgsc.bcm.edu	37	chr7	134260279	134260279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aaacctggactgaaatataaAccagtgactaaccaggtaaa	7	8	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:134260279A>T	ENST00000457545.2	+	7	881	c.621A>T	c.(619-621)aaA>aaT	p.K207N	AKR1B15_ENST00000423958.1_Missense_Mutation_p.K179N	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	207							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGAAATATAAACCAGTGACTA	0.468																																					p.K207N		Atlas-SNP	.											.	AKR1B15	105	.	0			c.A621T						PASS	.						69	75	73					7																	134260279		2202	4300	6502	SO:0001583	missense	441282	exon7			ATATAAACCAGTG		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.621A>T	7.37:g.134260279A>T	ENSP00000389289:p.Lys207Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	92	40	0.434783	NM_001080538	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930250	0.52866	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28069	1.63;1.63	3.82	-4.68	0.03309	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.46658	0.1404	H	0.94847	3.59	0.49130	D	0.999758	P;P	0.51653	0.609;0.947	B;P	0.44860	0.286;0.462	T	0.71646	-0.4530	9	0.87932	D	0	.	15.1895	0.73032	0.1808:0.0:0.8192:0.0	.	179;207	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	N	207;179	ENSP00000389289:K207N;ENSP00000397009:K179N	ENSP00000397009:K179N	K	+	3	2	AKR1B15	133910819	0.067000	0.21026	0.376000	0.26042	0.690000	0.40134	-0.684000	0.05173	-0.911000	0.03843	-0.451000	0.05528	AAA	.	.	none		0.468	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134260279	A	T	134260279	3	4	17	1	0	0	0	0	1	0	0	0	468	40	2	5	639	5	AKR1B15	7	134260279	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	21844904	134260279	24878384	75	4323										
ZNF425	155054	hgsc.bcm.edu	37	chr7	148801430	148801430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttcaggtgctgcgtgagccgCgactgctgagaaaaggtctt	14	9	2	2	rs575584712		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr7:148801430C>T	ENST00000378061.2	-	4	1665	c.1533G>A	c.(1531-1533)tcG>tcA	p.S511S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	511					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCGTGAGCCGCGACTGCTGAG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18036	0.0		0.0	False		,,,				2504	0.0				p.S511S		Atlas-SNP	.											ZNF425,NS,carcinoma,0,1	ZNF425	99	1	0			c.G1533A						PASS	.						48	39	42					7																	148801430		2203	4300	6503	SO:0001819	synonymous_variant	155054	exon4			GAGCCGCGACTGC	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1533G>A	7.37:g.148801430C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	74	27	0.364865	NM_001001661	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																			.	.	none		0.627	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148801430	C	T	148801430	2	4	17	1	0	0	0	0	0	0	0	1	17896	755	27	1		1	ZNF425	7	148801430	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	14541151	148801430	10337233	76	4324										
AMAC1L2	83650	hgsc.bcm.edu	37	chr8	11188806	11188806	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttctcgtatggcttaccaggGttccaacctgccctcgctgg	10	14	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:11188806G>C	ENST00000382435.4	+	1	410	c.191G>C	c.(190-192)gGt>gCt	p.G64A		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	64	EamA 1.					integral component of membrane (GO:0016021)		p.G64A(1)									GCTTACCAGGGTTCCAACCTG	0.637																																					p.G64A		Atlas-SNP	.											AMAC1L2,trunk,malignant_melanoma,0,1	.	.	1	1	Substitution - Missense(1)	skin(1)	c.G191C						scavenged	.						151	146	148					8																	11188806		2203	4300	6503	SO:0001583	missense	83650	exon1			ACCAGGGTTCCAA	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.191G>C	8.37:g.11188806G>C	ENSP00000371872:p.Gly64Ala	Somatic	153	8	0.0522876		WXS	Illumina HiSeq	Phase_I	148	8	0.0540541	NM_054028	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.054055	0.00390	.	.	ENSG00000177710	ENST00000382435	T	0.50277	0.75	0.34	0.34	0.15985	.	0.536315	0.15627	N	0.252577	T	0.16471	0.0396	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.07644	T	0.81	-3.0E-4	6.0882	0.19978	0.0:0.3644:0.6356:0.0	.	64	Q96KT7	S35G5_HUMAN	A	64	ENSP00000371872:G64A	ENSP00000371872:G64A	G	+	2	0	SLC35G5	11226216	0.005000	0.15991	0.845000	0.33349	0.156000	0.22039	0.073000	0.14640	-1.304000	0.02329	-1.954000	0.00483	GGT	.	.	none		0.637	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		C	11188806	G	C	11188806	3	2	17	1	0	0	0	0	1	0	0	0	560	1261	44	4	193	4	AMAC1L2	8	11188806	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10		11188806	135175216	77	4325										
XKR4	114786	hgsc.bcm.edu	37	chr8	56270330	56270330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaaaatggtatatgagtatgCggatgtgagtatgctgcatt	13	3	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:56270330C>T	ENST00000327381.6	+	2	999	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	300						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TATGAGTATGCGGATGTGAGT	0.453																																					p.A300V		Atlas-SNP	.											XKR4,colon,carcinoma,0,1	XKR4	104	1	0			c.C899T						PASS	.						178	159	165					8																	56270330		2203	4300	6503	SO:0001583	missense	114786	exon2			AGTATGCGGATGT	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.899C>T	8.37:g.56270330C>T	ENSP00000328326:p.Ala300Val	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	219	56	0.255708	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248401	0.59103	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66280	-0.2	5.96	5.96	0.96718	.	0.054071	0.64402	D	0.000001	T	0.79511	0.4458	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78191	-0.2300	10	0.54805	T	0.06	-14.25	20.4192	0.99033	0.0:1.0:0.0:0.0	.	300	Q5GH76	XKR4_HUMAN	V	300	ENSP00000328326:A300V	ENSP00000328326:A300V	A	+	2	0	XKR4	56432884	1.000000	0.71417	0.984000	0.44739	0.293000	0.27360	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GCG	.	.	none		0.453	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56270330	C	T	56270330	3	4	17	1	0	0	0	0	1	0	0	0	17430	768	27	1	905	1	XKR4	8	56270330	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	45081524	56270330	90093692	78	4326										
CNBD1	168975	hgsc.bcm.edu	37	chr8	88298781	88298781	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttttaggaaaaaataaaactTgaaaatatgcaaaagttgaa	6	2	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:88298781T>A	ENST00000518476.1	+	8	975	c.924T>A	c.(922-924)ctT>ctA	p.L308L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	308										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAATAAAACTTGAAAATATGC	0.274																																					p.L308L		Atlas-SNP	.											.	CNBD1	206	.	0			c.T924A						PASS	.						39	35	36					8																	88298781		1760	3999	5759	SO:0001819	synonymous_variant	168975	exon8			AAAACTTGAAAAT	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.924T>A	8.37:g.88298781T>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	70	19	0.271429	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																			.	.	none		0.274	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		A	88298781	T	A	88298781	2	1	17	1	0	0	0	0	0	0	0	1	3591	1799	63	5		5	CNBD1	8	88298781	Silent	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	32028451	88298781	58065241	79	4327										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100887760	100887760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cttccatgcaaataccatgcCctgtggtggctgcagaacct	9	13	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:100887760C>T	ENST00000358544.2	+	62	12046	c.11935C>T	c.(11935-11937)Cct>Tct	p.P3979S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3954S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3979					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATACCATGCCCTGTGGTGGC	0.478																																					p.P3979S	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.C11935T						PASS	.						152	130	137					8																	100887760		2203	4300	6503	SO:0001583	missense	157680	exon62			CCATGCCCTGTGG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11935C>T	8.37:g.100887760C>T	ENSP00000351346:p.Pro3979Ser	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	162	61	0.376543	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	3.563	-0.089224	0.07097	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.67171	-0.25;-0.25	5.65	3.84	0.44239	.	0.292622	0.31949	N	0.006813	T	0.44932	0.1317	N	0.14661	0.345	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.20605	-1.0270	10	0.10902	T	0.67	.	11.2147	0.48819	0.0:0.8027:0.1284:0.0689	.	3954;3979	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3954;3979	ENSP00000349685:P3954S;ENSP00000351346:P3979S	ENSP00000349685:P3954S	P	+	1	0	VPS13B	100956936	0.012000	0.17670	0.980000	0.43619	0.612000	0.37316	1.690000	0.37711	0.729000	0.32403	0.655000	0.94253	CCT	.	.	none		0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100887760	C	T	100887760	3	4	17	1	0	0	0	0	1	0	0	0	17187	623	22	2	12371	2	VPS13B	8	100887760	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	12588979	100887760	45476262	80	4328										
HAS2	3037	hgsc.bcm.edu	37	chr8	122641110	122641110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tgtgactcatctgtctcaccGggacccttttcgtggaagtt	10	11	3	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:122641110G>A	ENST00000303924.4	-	2	1008	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	157					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTCTCACCGGGACCCTTTT	0.433																																					p.P157P		Atlas-SNP	.											.	HAS2	87	.	0			c.C471T						PASS	.						324	290	302					8																	122641110		2203	4300	6503	SO:0001819	synonymous_variant	3037	exon2			CTCACCGGGACCC	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.471C>T	8.37:g.122641110G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	172	42	0.244186	NM_005328	Q32MM3	Silent	SNP	ENST00000303924.4	37	CCDS6335.1																																																																																			.	.	none		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		A	122641110	G	A	122641110	2	1	17	1	0	0	0	0	0	0	0	1	6962	1103	39	1		1	HAS2	8	122641110	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	21753350	122641110	23722912	81	4329										
ZNF707	286075	hgsc.bcm.edu	37	chr8	144775926	144775926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cacgtgcggcgagaaagagcCagggaaggaagcagctttag	16	8	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr8:144775926C>T	ENST00000532205.1	+	8	1241	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000418203.2_Silent_p.A114A|ZNF707_ENST00000358656.4_Silent_p.A114A|ZNF707_ENST00000532158.1_Silent_p.A114A|ZNF707_ENST00000454097.1_Silent_p.A114A			Q96C28	ZN707_HUMAN	zinc finger protein 707	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGAAAGAGCCAGGGAAGGAA	0.582																																					p.A114A		Atlas-SNP	.											.	ZNF707	21	.	0			c.C342T						PASS	.						55	60	59					8																	144775926		2012	4175	6187	SO:0001819	synonymous_variant	286075	exon6			AAGAGCCAGGGAA	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.342C>T	8.37:g.144775926C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	111	27	0.243243	NM_001100598	A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	1.036	-0.680439	0.03353	.	.	ENSG00000181135	ENST00000530574	T	0.01548	4.78	1.76	0.866	0.19079	.	.	.	.	.	T	0.02230	0.0069	.	.	.	0.21105	N	0.99979	.	.	.	.	.	.	T	0.47873	-0.9083	6	0.44086	T	0.13	.	6.2605	0.20897	0.0:0.8249:0.0:0.1751	.	.	.	.	L	111	ENSP00000436362:P111L	ENSP00000436362:P111L	P	+	2	0	ZNF707	144847914	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.747000	0.26290	0.300000	0.22699	-0.253000	0.11424	CCA	.	.	none		0.582	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		T	144775926	C	T	144775926	2	4	17	1	0	0	0	0	0	0	0	1	18108	581	21	2		2	ZNF707	8	144775926	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	22134816	144775926	1588096	82	4330										
STOML2	30968	hgsc.bcm.edu	37	chr9	35100654	35100654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cagtaggatagtgttggagtCcttggccagtttggagaacg	15	6	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr9:35100654C>T	ENST00000356493.5	-	9	936	c.874G>A	c.(874-876)Gac>Aac	p.D292N	RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.D247N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	292					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGTTGGAGTCCTTGGCCAGT	0.542																																					p.D292N		Atlas-SNP	.											.	STOML2	27	.	0			c.G874A						PASS	.						215	190	199					9																	35100654		2203	4300	6503	SO:0001583	missense	30968	exon9			TGGAGTCCTTGGC	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.874G>A	9.37:g.35100654C>T	ENSP00000348886:p.Asp292Asn	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	129	12	0.0930233	NM_013442	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325674	0.60743	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98090	-3.44;-4.71	5.51	5.51	0.81932	.	0.237450	0.43110	D	0.000605	D	0.94771	0.8312	N	0.24115	0.695	0.54753	D	0.999986	B;B	0.26318	0.006;0.146	B;B	0.28465	0.004;0.09	D	0.92340	0.5881	9	.	.	.	-17.448	19.403	0.94639	0.0:1.0:0.0:0.0	.	247;292	B4E1K7;Q9UJZ1	.;STML2_HUMAN	N	292;247	ENSP00000348886:D292N;ENSP00000395743:D247N	.	D	-	1	0	STOML2	35090654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.893000	0.69798	2.590000	0.87494	0.563000	0.77884	GAC	.	.	none		0.542	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		T	35100654	C	T	35100654	3	4	17	1	0	0	0	0	1	0	0	0	15313	855	30	2	204	2	STOML2	9	35100654	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		35100654	106112777	83	4331										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79875041	79875041	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttacctcttatttctttacgAatctcagataaaaaactaca	2	9	3	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr9:79875041A>T	ENST00000360280.3	+	23	2588	c.2328A>T	c.(2326-2328)cgA>cgT	p.R776R	VPS13A_ENST00000357409.5_Silent_p.R776R|VPS13A_ENST00000376636.3_Silent_p.R776R|VPS13A_ENST00000376634.4_Silent_p.R776R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	776					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCTTTACGAATCTCAGATA	0.308																																					p.R776R		Atlas-SNP	.											VPS13A_ENST00000376634,colon,carcinoma,+2,3	VPS13A	735	3	0			c.A2328T						PASS	.						47	47	47					9																	79875041		2203	4297	6500	SO:0001819	synonymous_variant	23230	exon23			TTTACGAATCTCA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2328A>T	9.37:g.79875041A>T		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	315	55	0.174603	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																			.	.	none		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79875041	A	T	79875041	2	4	17	1	0	0	0	0	0	0	0	1	17186	233	9	5		5	VPS13A	9	79875041	Silent	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	44774387	79875041	61338390	84	4332										
BAAT	570	hgsc.bcm.edu	37	chr9	104125078	104125078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttgagttgtctcaaaagtgcGatagagctctagtaacccca	9	9	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr9:104125078G>A	ENST00000395051.3	-	3	959	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	BAAT_ENST00000259407.2_Missense_Mutation_p.R297C			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	297					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCAAAAGTGCGATAGAGCTCT	0.453																																					p.R297C		Atlas-SNP	.											BAAT,NS,carcinoma,+1,2	BAAT	52	2	0			c.C889T						PASS	.						105	106	105					9																	104125078		2203	4300	6503	SO:0001583	missense	570	exon4			AAGTGCGATAGAG	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.889C>T	9.37:g.104125078G>A	ENSP00000378491:p.Arg297Cys	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	171	31	0.181287	NM_001127610	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193049	0.58017	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.32023	1.47;1.47	4.96	-5.2	0.02823	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	2.307260	0.01179	N	0.007052	T	0.27798	0.0684	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.56916	0.809	T	0.35773	-0.9775	10	0.72032	D	0.01	1.8351	1.2033	0.01890	0.1891:0.3271:0.153:0.3308	.	297	Q14032	BAAT_HUMAN	C	297	ENSP00000259407:R297C;ENSP00000378491:R297C	ENSP00000259407:R297C	R	-	1	0	BAAT	103164899	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.138000	0.01303	-0.582000	0.05929	0.655000	0.94253	CGC	.	.	none		0.453	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			A	104125078	G	A	104125078	3	1	17	1	0	0	0	0	1	0	0	0	1280	1058	37	1	371	1	BAAT	9	104125078	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	24250037	104125078	37088353	85	4333										
PPP3R2	116443	hgsc.bcm.edu	37	chr9	104357008	104357008	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaagtccacttctccatcacCgtcggtgtcgaagacgtcga	10	13	2	1	rs202237297		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr9:104357008C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.G69S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCTCCATCACCGTCGGTGTCG	0.572																																					p.G69S		Atlas-SNP	.											.	PPP3R2	38	.	0			c.G205A						PASS	.	C	,SER/GLY	0,4406		0,0,2203	90	87	88		,205	3.8	0.3	9		88	7,8593	5.7+/-21.5	0,7,4293	yes	intron,missense	PPP3R2,GRIN3A	NM_133445.2,NM_147180.2	,56	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	,probably-damaging	,69/174	104357008	7,12999	2203	4300	6503	SO:0001627	intron_variant	5535	exon1			CATCACCGTCGGT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15366G>A	9.37:g.104357008C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	87	7	0.0804598	NM_147180	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393870	0.62066	0.0	8.14E-4	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.74737	-0.87	3.8	3.8	0.43715	EF-hand-like domain (1);	0.000000	0.40728	N	0.001028	T	0.76147	0.3947	M	0.79258	2.445	0.48236	D	0.999619	P	0.46621	0.881	B	0.43478	0.421	T	0.82016	-0.0666	10	0.87932	D	0	-25.0681	13.968	0.64221	0.0:1.0:0.0:0.0	.	66	Q96LZ3	CANB2_HUMAN	S	69	ENSP00000363939:G69S	ENSP00000363939:G69S	G	-	1	0	PPP3R2	103396829	1.000000	0.71417	0.305000	0.25099	0.163000	0.22366	5.776000	0.68924	2.399000	0.81585	0.563000	0.77884	GGT	.	.	weak		0.572	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104357008	C	T	104357008	1	4	17	0	1	0	0	0	0	0	0	0	12401	652	23	1		1	PPP3R2	9	104357008	Intron	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	231930	104357008	36856423	86	4334										
C10orf140	387640	hgsc.bcm.edu	37	chr10	21805480	21805480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctgcccccctcctcctcctcTtcctcctcctcctcctctcc	1	27	2	0	rs201836118		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:21805480T>C	ENST00000449193.2	-	4	3524	c.1272A>G	c.(1270-1272)gaA>gaG	p.E424E	SKIDA1_ENST00000444772.3_Silent_p.E345E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	343						nucleus (GO:0005634)											cctcctcctcttcctcctcct	0.632																																					p.E424E		Atlas-SNP	.											C10orf140_ENST00000449193,colon,carcinoma,0,6	.	.	6	0			c.A1272G						PASS	.						5	6	6					10																	21805480		2001	4121	6122	SO:0001819	synonymous_variant	387640	exon4			CTCCTCTTCCTCC	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1272A>G	10.37:g.21805480T>C		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	39	10	0.25641	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																			.	.	weak		0.632	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		C	21805480	T	C	21805480	2	2	17	1	0	0	0	0	0	0	0	1	1595	1606	56	3		3	C10orf140	10	21805480	Silent	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10		21805480	113729267	87	4335										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55663021	55663021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	accttcactctgagtacagaAgtaaacattcttgcatcttc	5	11	4	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:55663021A>G	ENST00000320301.6	-	26	3877	c.3483T>C	c.(3481-3483)acT>acC	p.T1161T	PCDH15_ENST00000414778.1_Silent_p.T1166T|PCDH15_ENST00000437009.1_Silent_p.T1090T|PCDH15_ENST00000409834.1_Silent_p.T772T|PCDH15_ENST00000373965.2_Silent_p.T1168T|PCDH15_ENST00000395438.1_Silent_p.T1161T|PCDH15_ENST00000395445.1_Silent_p.T1168T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.T1124T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Silent_p.T1139T|PCDH15_ENST00000361849.3_Silent_p.T1161T|PCDH15_ENST00000395430.1_Silent_p.T1161T|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1161	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGTACAGAAGTAAACATTC	0.353										HNSCC(58;0.16)																											p.T1166T		Atlas-SNP	.											.	PCDH15	1715	.	0			c.T3498C						PASS	.						85	81	82					10																	55663021		2203	4300	6503	SO:0001819	synonymous_variant	65217	exon27			TACAGAAGTAAAC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3483T>C	10.37:g.55663021A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	121	29	0.239669	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																			.	.	none		0.353	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55663021	A	G	55663021	2	3	17	1	0	0	0	0	0	0	0	1	11511	59	3	3		3	PCDH15	10	55663021	Silent	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	33857541	55663021	79871726	88	4336										
PDZD8	118987	hgsc.bcm.edu	37	chr10	119133946	119133946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gatgatggaggtgagctgggGcatgggccgcccttcaaact	16	9	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:119133946G>A	ENST00000334464.5	-	1	1032	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	265					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTGAGCTGGGGCATGGGCCGC	0.582																																					p.P265S		Atlas-SNP	.											.	PDZD8	85	.	0			c.C793T						PASS	.						64	69	68					10																	119133946		2203	4300	6503	SO:0001583	missense	118987	exon1			GCTGGGGCATGGG	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.793C>T	10.37:g.119133946G>A	ENSP00000334642:p.Pro265Ser	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	70	16	0.228571	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813834	0.50527	.	.	ENSG00000165650	ENST00000334464	D	0.87029	-2.2	4.87	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.54323	1.7	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.89811	0.3982	10	0.37606	T	0.19	-2.6702	14.5263	0.67892	0.0:0.0:0.8523:0.1477	.	265	Q8NEN9	PDZD8_HUMAN	S	265	ENSP00000334642:P265S	ENSP00000334642:P265S	P	-	1	0	PDZD8	119123936	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.425000	0.80255	1.015000	0.39444	0.655000	0.94253	CCC	.	.	none		0.582	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		A	119133946	G	A	119133946	3	1	17	1	0	0	0	0	1	0	0	0	11705	1203	42	2	2691	2	PDZD8	10	119133946	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	63470925	119133946	16400801	89	4337										
PDZD8	118987	hgsc.bcm.edu	37	chr10	119133982	119133982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aaactgggagcgcacctcgaAgtcgatcagcgggtcttcca	12	12	2	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:119133982A>G	ENST00000334464.5	-	1	996	c.757T>C	c.(757-759)Ttc>Ctc	p.F253L		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	253					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CGCACCTCGAAGTCGATCAGC	0.597																																					p.F253L		Atlas-SNP	.											.	PDZD8	85	.	0			c.T757C						PASS	.						57	58	57					10																	119133982		2203	4300	6503	SO:0001583	missense	118987	exon1			CCTCGAAGTCGAT	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.757T>C	10.37:g.119133982A>G	ENSP00000334642:p.Phe253Leu	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	70	14	0.2	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	A	4.086	0.014013	0.07959	.	.	ENSG00000165650	ENST00000334464	D	0.84370	-1.84	4.87	3.72	0.42706	.	0.063697	0.64402	D	0.000005	T	0.69744	0.3145	N	0.16478	0.41	0.49299	D	0.999774	B	0.15930	0.015	B	0.15052	0.012	T	0.57306	-0.7834	10	0.20046	T	0.44	-9.6398	6.3359	0.21296	0.7806:0.0:0.0778:0.1416	.	253	Q8NEN9	PDZD8_HUMAN	L	253	ENSP00000334642:F253L	ENSP00000334642:F253L	F	-	1	0	PDZD8	119123972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.781000	0.68964	0.677000	0.31305	0.533000	0.62120	TTC	.	.	none		0.597	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		G	119133982	A	G	119133982	3	3	17	1	0	0	0	0	1	0	0	0	11705	72	3	3	2727	3	PDZD8	10	119133982	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	36	119133982	16400765	90	4338										
EIF3A	8661	hgsc.bcm.edu	37	chr10	120824953	120824953	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cgtgtcggtggggcttgaagAcctagtagtgttgcaaggcg	17	7	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:120824953A>C	ENST00000369144.3	-	7	1207	c.1080T>G	c.(1078-1080)ggT>ggG	p.G360G	EIF3A_ENST00000541549.1_Silent_p.G326G	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)		GGGCTTGAAGACCTAGTAGTG	0.418																																					p.G360G		Atlas-SNP	.											.	EIF3A	142	.	0			c.T1080G						PASS	.						135	127	130					10																	120824953		2203	4300	6503	SO:0001819	synonymous_variant	8661	exon7			TTGAAGACCTAGT	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.1080T>G	10.37:g.120824953A>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	129	35	0.271318	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	CCDS7608.1																																																																																			.	.	none		0.418	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		C	120824953	A	C	120824953	2	2	17	1	0	0	0	0	0	0	0	1	5012	262	10	5		5	EIF3A	10	120824953	Silent	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	1690971	120824953	14709794	91	4339										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	439	6	0.0136674		WXS	Illumina HiSeq	Phase_I	435	7	0.016092	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	17	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	14613980	135438933	95814	92	4340										
EPS8L2	64787	hgsc.bcm.edu	37	chr11	726654	726655	+	Frame_Shift_Ins	INS	-	-	GCTC													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggcatcctgaccgggccgcaINSgctcttctccctcaacaagg							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:726654_726655insGCTC	ENST00000533256.1	+	21	2345_2346	c.1970_1971insGCTC	c.(1969-1974)cagctcfs	p.-658fs	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000534449.1_3'UTR|EPS8L2_ENST00000530636.1_Frame_Shift_Ins_p.-658fs|EPS8L2_ENST00000318562.8_Frame_Shift_Ins_p.-658fs|EPS8L2_ENST00000526198.1_Frame_Shift_Ins_p.-674fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2						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)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGGGCCGCAGCTCTTCTCCC	0.678																																					p.Q657fs		Pindel,Atlas-Indel	.											.	EPS8L2	42	.	0			c.1970_1971insGCTC						PASS	.																																			SO:0001589	frameshift_variant	64787	exon20			.	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1971_1974dupGCTC	11.37:g.726655_726658dupGCTC	ENSP00000435585:p.Leu658fs	Somatic	103	.	.		WXS	Illumina HiSeq	Phase_I	106	18	0.17	NM_022772	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Frame_Shift_Ins	INS	ENST00000533256.1	37	CCDS31328.1																																																																																			.	.	none		0.678	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		GCTC	726655	-	GCTC	726654	7	5	17	1	0	1	1	0	0	0	0	0	5196	188	7	0	2044	0	EPS8L2	11	726654	Frame_Shift_Ins	INS	-	TCGA-FF-A7CQ-01A-11D-A382-10		726654	134279862	93	4341										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	718	33	0.045961		WXS	Illumina HiSeq	Phase_I	639	29	0.0453834	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	17	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	290195	1016849	133989667	94	4342	78	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	715	31	0.0433566		WXS	Illumina HiSeq	Phase_I	629	28	0.0445151	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	17	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	2	1016851	133989665	95	4343	78	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	661	68	0.102874		WXS	Illumina HiSeq	Phase_I	496	47	0.0947581	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	17	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	217	1017068	133989448	96	4344										
C11orf40	143501	hgsc.bcm.edu	37	chr11	4592708	4592708	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaagtagaacacgatccataCagtttttccctgcaaagacc	7	11	0	2	rs67037861|rs71280817|rs79804156		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:4592708C>G	ENST00000307616.1	-	4	598	c.599G>C	c.(598-600)tGt>tCt	p.C200S		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	200										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acgatccatacagtttttccC	0.428																																					p.C200S		Atlas-SNP	.											.	C11orf40	37	.	0			c.G599C						PASS	.						87	75	79					11																	4592708		2133	4180	6313	SO:0001583	missense	143501	exon4			TCCATACAGTTTT		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.599G>C	11.37:g.4592708C>G	ENSP00000302918:p.Cys200Ser	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	125	11	0.088	NM_144663		Missense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	C	1.174	-0.640091	0.03557	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	0.56	-1.12	0.09808	.	.	.	.	.	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17349	-1.0372	8	0.87932	D	0	.	.	.	.	.	200	Q8WZ69	CK040_HUMAN	S	200	ENSP00000302918:C200S	ENSP00000302918:C200S	C	-	2	0	C11orf40	4549284	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.580000	0.02121	-0.348000	0.08286	-1.125000	0.01998	TGT	.	.	weak		0.428	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		G	4592708	C	G	4592708	3	3	17	1	0	0	0	0	1	0	0	0	1639	478	17	4	57	4	C11orf40	11	4592708	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	3575640	4592708	130413808	97	4345										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	446	14	0.0313901		WXS	Illumina HiSeq	Phase_I	417	25	0.059952	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	17	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	51062889	55655597	79350919	98	4346										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971351	57971351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcataagagatggattggctGttggtttgaatattcaccag	11	5	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:57971351G>C	ENST00000302592.6	-	1	302	c.303C>G	c.(301-303)aaC>aaG	p.N101K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGGATTGGCTGTTGGTTTGAA	0.443																																					p.N101K		Atlas-SNP	.											OR1S2,NS,adenoma,-1,1	OR1S2	119	1	0			c.C303G						scavenged	.						177	168	171					11																	57971351		2201	4296	6497	SO:0001583	missense	219958	exon1			TTGGCTGTTGGTT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.303C>G	11.37:g.57971351G>C	ENSP00000305469:p.Asn101Lys	Somatic	399	9	0.0225564		WXS	Illumina HiSeq	Phase_I	335	6	0.0179104	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.800641	0.00611	.	.	ENSG00000197887	ENST00000302592	T	0.01981	4.52	4.47	-8.37	0.00976	GPCR, rhodopsin-like superfamily (1);	1.336330	0.04978	N	0.465118	T	0.00815	0.0027	N	0.01250	-0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50482	-0.8823	10	0.36615	T	0.2	.	4.0571	0.09821	0.2759:0.3611:0.2766:0.0863	.	101	Q8NGQ3	OR1S2_HUMAN	K	101	ENSP00000305469:N101K	ENSP00000305469:N101K	N	-	3	2	OR1S2	57727927	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.209000	0.00557	-1.926000	0.01061	-2.533000	0.00181	AAC	.	.	none		0.443	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		C	57971351	G	C	57971351	3	2	17	1	0	0	0	0	1	0	0	0	10973	1368	48	4	677	4	OR1S2	11	57971351	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	2315754	57971351	77035165	99	4347										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978697	58978697	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cagagacggtgcccctaaatCtctggatatagcaggatcta	10	10	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:58978697C>T	ENST00000361050.3	-	1	1727	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	548						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCCCCTAAATCTCTGGATATA	0.557																																					p.D548N		Atlas-SNP	.											.	MPEG1	72	.	0			c.G1642A						PASS	.						40	43	42					11																	58978697		1844	4086	5930	SO:0001583	missense	219972	exon1			CTAAATCTCTGGA	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1642G>A	11.37:g.58978697C>T	ENSP00000354335:p.Asp548Asn	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	64	16	0.25	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	4.924	0.171623	0.09391	.	.	ENSG00000197629	ENST00000361050	T	0.22539	1.95	5.83	4.74	0.60224	.	0.250875	0.28560	N	0.014904	T	0.20210	0.0486	L	0.48362	1.52	0.09310	N	1	B	0.18310	0.027	B	0.17433	0.018	T	0.07888	-1.0749	10	0.44086	T	0.13	-21.4942	12.7616	0.57367	0.0:0.9095:0.0:0.0905	.	548	Q2M385	MPEG1_HUMAN	N	548	ENSP00000354335:D548N	ENSP00000354335:D548N	D	-	1	0	MPEG1	58735273	0.182000	0.23173	0.069000	0.20011	0.065000	0.16274	0.596000	0.24044	2.767000	0.95098	0.655000	0.94253	GAT	.	.	none		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58978697	C	T	58978697	3	4	17	1	0	0	0	0	1	0	0	0	9723	913	32	2	512	2	MPEG1	11	58978697	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1007346	58978697	76027819	100	4348										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58980009	58980009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtgttgatggagtaggaggtGctactctggtaatttgccca	14	6	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:58980009G>A	ENST00000361050.3	-	1	415	c.330C>T	c.(328-330)agC>agT	p.S110S	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	110	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTAGGAGGTGCTACTCTGGT	0.453																																					p.S110S		Atlas-SNP	.											.	MPEG1	72	.	0			c.C330T						PASS	.						200	187	191					11																	58980009		1918	4125	6043	SO:0001819	synonymous_variant	219972	exon1			GGAGGTGCTACTC	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.330C>T	11.37:g.58980009G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	133	45	0.338346	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																			.	.	none		0.453	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58980009	G	A	58980009	2	1	17	1	0	0	0	0	0	0	0	1	9723	1310	46	2		2	MPEG1	11	58980009	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1312	58980009	76026507	101	4349										
SHANK2	22941	hgsc.bcm.edu	37	chr11	70332437	70332437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggcgttgtccagcttagtggCgtccacggtgtgcaccatca	13	12	1	0	rs555445178		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:70332437C>T	ENST00000423696.2	-	15	2860	c.2824G>A	c.(2824-2826)Gcc>Acc	p.A942T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A725T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A726T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1322T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	942					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGCTTAGTGGCGTCCACGGTG	0.592																																					p.A733T		Atlas-SNP	.											.	SHANK2	340	.	0			c.G2197A						PASS	.						119	105	110					11																	70332437		2200	4294	6494	SO:0001583	missense	22941	exon10			TAGTGGCGTCCAC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2824G>A	11.37:g.70332437C>T	ENSP00000394536:p.Ala942Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	86	26	0.302326	NM_133266	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439660	0.04636	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	4.98	0.842	0.18927	.	0.465316	0.25863	N	0.027802	T	0.07818	0.0196	N	0.13043	0.29	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.08055	0.003;0.003;0.002	T	0.41413	-0.9510	10	0.10902	T	0.67	.	8.9408	0.35729	0.0:0.455:0.0:0.545	.	942;1321;726	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	726;725;600;1322;942;960;945	ENSP00000399423:A726T;ENSP00000386491:A725T;ENSP00000402944:A600T;ENSP00000345193:A1322T;ENSP00000394536:A942T;ENSP00000294018:A945T	ENSP00000294018:A945T	A	-	1	0	SHANK2	70010085	0.010000	0.17322	0.079000	0.20413	0.912000	0.54170	0.683000	0.25349	-0.107000	0.12088	0.561000	0.74099	GCC	.	.	none		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		T	70332437	C	T	70332437	3	4	17	1	0	0	0	0	1	0	0	0	14265	768	27	1	1596	1	SHANK2	11	70332437	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	11352428	70332437	64674079	102	4350										
MTNR1B	4544	hgsc.bcm.edu	37	chr11	92703057	92703057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcaccaccgccgtggacgtcGtgggcaacctcctggtgatc	12	15	1	1	rs148309052		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr11:92703057G>A	ENST00000257068.2	+	1	172	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	56					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CGTGGACGTCGTGGGCAACCT	0.692																																					p.V56M		Atlas-SNP	.											.	MTNR1B	75	.	0			c.G166A						PASS	.	G	MET/VAL	0,4396		0,0,2198	35	28	30		166	-1.4	0	11	dbSNP_134	30	2,8588		0,2,4293	no	missense	MTNR1B	NM_005959.3	21	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	benign	56/363	92703057	2,12984	2198	4295	6493	SO:0001583	missense	4544	exon1			GACGTCGTGGGCA	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.166G>A	11.37:g.92703057G>A	ENSP00000257068:p.Val56Met	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	52	11	0.211538	NM_005959		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	4.668	0.124122	0.08931	0.0	2.33E-4	ENSG00000134640	ENST00000257068	T	0.40225	1.04	4.57	-1.37	0.09056	.	0.534882	0.16009	N	0.233911	T	0.19967	0.0480	L	0.29908	0.895	0.19775	N	0.999956	P	0.35982	0.531	B	0.26310	0.068	T	0.09185	-1.0686	10	0.34782	T	0.22	-0.2663	3.6257	0.08112	0.1518:0.353:0.3793:0.1159	.	56	P49286	MTR1B_HUMAN	M	56	ENSP00000257068:V56M	ENSP00000257068:V56M	V	+	1	0	MTNR1B	92342705	0.012000	0.17670	0.023000	0.16930	0.042000	0.13812	0.085000	0.14912	-0.236000	0.09753	-0.142000	0.14014	GTG	G|1.000;A|0.000	0.000	weak		0.692	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92703057	G	A	92703057	3	1	17	1	0	0	0	0	1	0	0	0	9952	1145	40	1	168	1	MTNR1B	11	92703057	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	22370620	92703057	42303459	103	4351										
TAS2R30	259293	hgsc.bcm.edu	37	chr12	11286093	11286093	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cttttccagcctcccaaaatTacaaactgatatgatcatgg	5	11	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr12:11286093T>G	ENST00000539585.1	-	1	1150	c.751A>C	c.(751-753)Aat>Cat	p.N251H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTCCCAAAATTACAAACTGAT	0.413																																					p.N251H		Atlas-SNP	.											.	TAS2R30	28	.	0			c.A751C						PASS	.						134	142	139					12																	11286093		2203	4299	6502	SO:0001583	missense	259293	exon1			CAAAATTACAAAC	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.751A>C	12.37:g.11286093T>G	ENSP00000444736:p.Asn251His	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	178	41	0.230337	NM_001097643	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	7.335	0.619790	0.14193	.	.	ENSG00000256188	ENST00000539585	T	0.00737	5.76	2.6	-2.21	0.06973	.	.	.	.	.	T	0.00845	0.0028	L	0.56340	1.77	0.09310	N	1	B	0.17038	0.02	B	0.23716	0.048	T	0.44574	-0.9319	9	0.23891	T	0.37	.	3.172	0.06555	0.4197:0.0:0.2144:0.3658	.	251	P59541	T2R30_HUMAN	H	251	ENSP00000444736:N251H	ENSP00000444736:N251H	N	-	1	0	TAS2R30	11177360	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.332000	0.07904	-0.617000	0.05664	0.260000	0.18958	AAT	.	.	none		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		G	11286093	T	G	11286093	3	3	17	1	0	0	0	0	1	0	0	0	15570	1754	61	5	212	5	TAS2R30	12	11286093	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10		11286093	122565802	104	4352										
SRGAP1	57522	hgsc.bcm.edu	37	chr12	64485076	64485076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gcctccaaatgttccccctaAgccccagaaacacaggaagt	7	15	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr12:64485076A>C	ENST00000355086.3	+	12	1981	c.1457A>C	c.(1456-1458)aAg>aCg	p.K486T	SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	486	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|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)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTTCCCCCTAAGCCCCAGAAA	0.428																																					p.K486T		Atlas-SNP	.											.	SRGAP1	146	.	0			c.A1457C						PASS	.						85	87	86					12																	64485076		2203	4300	6503	SO:0001583	missense	57522	exon12			CCCCTAAGCCCCA	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1457A>C	12.37:g.64485076A>C	ENSP00000347198:p.Lys486Thr	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	61	11	0.180328	NM_020762	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294486	0.60086	.	.	ENSG00000196935	ENST00000355086	T	0.08720	3.06	5.75	5.75	0.90469	.	0.000000	0.36591	U	0.002508	T	0.08714	0.0216	L	0.49126	1.545	0.80722	D	1	P	0.37781	0.608	B	0.27608	0.081	T	0.21177	-1.0253	9	.	.	.	.	15.5468	0.76108	1.0:0.0:0.0:0.0	.	486	Q7Z6B7	SRGP1_HUMAN	T	486	ENSP00000347198:K486T	.	K	+	2	0	SRGAP1	62771343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.299000	0.59073	2.326000	0.78906	0.533000	0.62120	AAG	.	.	none		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64485076	A	C	64485076	3	2	17	1	0	0	0	0	1	0	0	0	15144	72	3	5	1503	5	SRGAP1	12	64485076	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	53198983	64485076	69366819	105	4353										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20006716	20006716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gcaaaatatccaacatatctAttctgaaaagcaacagaaat	4	8	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr13:20006716A>C	ENST00000400230.2	-	16	1163	c.1119T>G	c.(1117-1119)aaT>aaG	p.N373K	TPTE2_ENST00000382977.4_Missense_Mutation_p.N373K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N333K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N262K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N262K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N333K|TPTE2_ENST00000255310.6_Missense_Mutation_p.N296K|TPTE2_ENST00000390680.2_Missense_Mutation_p.N296K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	373	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N296K(1)|p.N373K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CAACATATCTATTCTGAAAAG	0.318																																					p.N373K		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,2	TPTE2	225	2	2	Substitution - Missense(2)	kidney(2)	c.T1119G						scavenged	.						32	30	31					13																	20006716		2203	4294	6497	SO:0001583	missense	93492	exon17			ATATCTATTCTGA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1119T>G	13.37:g.20006716A>C	ENSP00000383089:p.Asn373Lys	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	129	4	0.0310078	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743348	0.03088	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	2.61	2.61	0.31194	Phosphatase tensin type (1);	0.135473	0.64402	D	0.000003	D	0.92172	0.7518	N	0.12746	0.255	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.001	D	0.85995	0.1491	9	.	.	.	-9.0395	4.4658	0.11689	0.8456:0.0:0.1544:0.0	.	262;296;373	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	333;262;373;296;296;373;333;262;373;242	ENSP00000372438:N333K;ENSP00000382974:N262K;ENSP00000383089:N373K;ENSP00000255310:N296K;ENSP00000375098:N296K;ENSP00000372437:N373K;ENSP00000372435:N333K;ENSP00000442218:N262K	.	N	-	3	2	TPTE2	18904716	0.745000	0.28261	0.994000	0.49952	0.539000	0.34962	0.408000	0.21065	1.458000	0.47871	0.254000	0.18369	AAT	.	.	none		0.318	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		C	20006716	A	C	20006716	3	2	17	1	0	0	0	0	1	0	0	0	16428	446	16	5	469	5	TPTE2	13	20006716	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10		20006716	95163162	106	4354										
POSTN	10631	hgsc.bcm.edu	37	chr13	38158888	38158888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggacctgatcaatcaaatggAtcacaccattatttgtcaca	6	10	4	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr13:38158888A>G	ENST00000379747.4	-	8	1190	c.1073T>C	c.(1072-1074)aTc>aCc	p.I358T	POSTN_ENST00000379743.4_Missense_Mutation_p.I358T|POSTN_ENST00000541179.1_Missense_Mutation_p.I358T|POSTN_ENST00000541481.1_Missense_Mutation_p.I358T|POSTN_ENST00000379742.4_Missense_Mutation_p.I358T|POSTN_ENST00000379749.4_Missense_Mutation_p.I358T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	358	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATCAAATGGATCACACCATT	0.313																																					p.I358T		Atlas-SNP	.											POSTN,colon,carcinoma,0,1	POSTN	161	1	0			c.T1073C						scavenged	.						235	199	212					13																	38158888		2203	4300	6503	SO:0001583	missense	10631	exon8			AAATGGATCACAC	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1073T>C	13.37:g.38158888A>G	ENSP00000369071:p.Ile358Thr	Somatic	234	2	0.00854701		WXS	Illumina HiSeq	Phase_I	217	59	0.271889	NM_006475	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193128	0.78902	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	5.41	5.41	0.78517	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	H	0.95712	3.71	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;0.995;1.0;0.997;0.987;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.995;0.999;0.995;0.976;0.979;0.999	D	0.99395	1.0926	10	0.87932	D	0	.	15.1264	0.72486	1.0:0.0:0.0:0.0	.	358;358;358;358;358;358;358	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	358	ENSP00000437959:I358T;ENSP00000369073:I358T;ENSP00000369071:I358T;ENSP00000369067:I358T;ENSP00000369066:I358T;ENSP00000437953:I358T	ENSP00000369066:I358T	I	-	2	0	POSTN	37056888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	2.043000	0.60533	0.533000	0.62120	ATC	.	.	none		0.313	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		G	38158888	A	G	38158888	3	3	17	1	0	0	0	0	1	0	0	0	12259	333	12	2	1501	2	POSTN	13	38158888	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	18152172	38158888	77010990	107	4355										
AKAP11	11215	hgsc.bcm.edu	37	chr13	42876626	42876626	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcgcctacttttttaaacccCtcagacgaaaatttgaaaac	4	11	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr13:42876626C>A	ENST00000025301.2	+	8	3919	c.3744C>A	c.(3742-3744)ccC>ccA	p.P1248P		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1248					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTTAAACCCCTCAGACGAAA	0.368																																					p.P1248P		Atlas-SNP	.											.	AKAP11	146	.	0			c.C3744A						PASS	.						65	69	68					13																	42876626		2203	4300	6503	SO:0001819	synonymous_variant	11215	exon8			AAACCCCTCAGAC	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3744C>A	13.37:g.42876626C>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	97	26	0.268041	NM_016248	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																			.	.	none		0.368	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		A	42876626	C	A	42876626	2	1	17	1	0	0	0	0	0	0	0	1	447	668	24	4		4	AKAP11	13	42876626	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	4717738	42876626	72293252	108	4356										
HS6ST3	266722	hgsc.bcm.edu	37	chr13	96743654	96743654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	agccttgtagctgcaaagcgGgtcagaagaagtgcacctgc	13	10	1	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr13:96743654G>A	ENST00000376705.2	+	1	562	c.538G>A	c.(538-540)Ggt>Agt	p.G180S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	180					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTGCAAAGCGGGTCAGAAGAA	0.637																																					p.G180S		Atlas-SNP	.											.	HS6ST3	54	.	0			c.G538A						PASS	.						32	30	31					13																	96743654		2203	4300	6503	SO:0001583	missense	266722	exon1			AAAGCGGGTCAGA	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.538G>A	13.37:g.96743654G>A	ENSP00000365895:p.Gly180Ser	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_153456	Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.852748	0.71719	.	.	ENSG00000185352	ENST00000376705	T	0.44083	0.93	5.29	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.85542	2.76	0.47183	D	0.999344	D	0.89917	1.0	D	0.97110	1.0	T	0.68834	-0.5304	10	0.59425	D	0.04	-15.837	12.193	0.54282	0.0:0.1303:0.7341:0.1357	.	180	Q8IZP7	H6ST3_HUMAN	S	180	ENSP00000365895:G180S	ENSP00000365895:G180S	G	+	1	0	HS6ST3	95541655	1.000000	0.71417	0.943000	0.38184	0.809000	0.45718	7.241000	0.78201	0.586000	0.29626	0.645000	0.84053	GGT	.	.	none		0.637	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		A	96743654	G	A	96743654	3	1	17	1	0	0	0	0	1	0	0	0	7372	1232	43	2	540	2	HS6ST3	13	96743654	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	53867028	96743654	18426224	109	4357										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45535938	45535938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttttatcagatacagaaaatAatcaagaccttgttgttgga	7	5	2	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr14:45535938A>G	ENST00000361577.3	+	16	4772	c.4558A>G	c.(4558-4560)Aat>Gat	p.N1520D	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.N1573D	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1520										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TACAGAAAATAATCAAGACCT	0.368																																					p.N1520D		Atlas-SNP	.											.	FAM179B	115	.	0			c.A4558G						PASS	.						77	81	79					14																	45535938		2203	4300	6503	SO:0001583	missense	23116	exon16			GAAAATAATCAAG	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4558A>G	14.37:g.45535938A>G	ENSP00000355045:p.Asn1520Asp	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	106	31	0.292453	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183215	0.78677	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.22336	1.96;1.96	5.59	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.65498	2.005	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70935	0.949;0.971	T	0.23726	-1.0180	10	0.59425	D	0.04	-14.0258	11.3311	0.49477	0.8479:0.1521:0.0:0.0	.	1573;1520	G3XAE9;Q9Y4F4	.;F179B_HUMAN	D	1520;1573	ENSP00000355045:N1520D;ENSP00000354917:N1573D	ENSP00000354917:N1573D	N	+	1	0	FAM179B	44605688	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.279000	0.78599	0.929000	0.37192	0.459000	0.35465	AAT	.	.	none		0.368	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		G	45535938	A	G	45535938	3	3	17	1	0	0	0	0	1	0	0	0	5506	362	13	2	4620	2	FAM179B	14	45535938	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10		45535938	61813602	110	4358										
PRKCH	5583	hgsc.bcm.edu	37	chr14	61857975	61857975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccagaggggaaagtatttgtGgtaataacccttaccgggag	13	7	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr14:61857975G>T	ENST00000332981.5	+	2	781	c.396G>T	c.(394-396)gtG>gtT	p.V132V	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	132					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AAGTATTTGTGGTAATAACCC	0.338																																					p.V132V	Melanoma(135;863 1779 8064 14443 26348)	Atlas-SNP	.											.	PRKCH	89	.	0			c.G396T						PASS	.						87	85	86					14																	61857975		2203	4300	6503	SO:0001819	synonymous_variant	5583	exon2			ATTTGTGGTAATA	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.396G>T	14.37:g.61857975G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	106	29	0.273585	NM_006255	B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	CCDS9752.1																																																																																			.	.	none		0.338	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		T	61857975	G	T	61857975	2	4	17	1	0	0	0	0	0	0	0	1	12513	1335	47	4		4	PRKCH	14	61857975	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	16322037	61857975	45491565	111	4359										
RGS6	9628	hgsc.bcm.edu	37	chr14	72943455	72943455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tgcttcttctcctagtccgtGtatggcgtgactgaagagtc	11	10	2	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr14:72943455G>A	ENST00000553530.1	+	11	906	c.699G>A	c.(697-699)gtG>gtA	p.V233V	RGS6_ENST00000402788.2_Silent_p.V233V|RGS6_ENST00000556437.1_Silent_p.V233V|RGS6_ENST00000434263.2_Silent_p.V164V|RGS6_ENST00000355512.6_Silent_p.V233V|RGS6_ENST00000404301.2_Silent_p.V233V|RGS6_ENST00000553525.1_Silent_p.V233V|RGS6_ENST00000406236.4_Silent_p.V233V|RGS6_ENST00000554782.1_Silent_p.V94V|RGS6_ENST00000343854.6_Silent_p.V233V|RGS6_ENST00000407322.4_Silent_p.V233V|RGS6_ENST00000555571.1_Silent_p.V233V	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	233					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCTAGTCCGTGTATGGCGTGA	0.507																																					p.V233V	Ovarian(143;1926 2468 21071 48641)	Atlas-SNP	.											RGS6,NS,carcinoma,+1,1	RGS6	92	1	0			c.G699A						PASS	.						117	100	106					14																	72943455		2203	4300	6503	SO:0001819	synonymous_variant	9628	exon11			GTCCGTGTATGGC	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.699G>A	14.37:g.72943455G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	92	13	0.141304	NM_001204424	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	CCDS9808.1																																																																																			.	.	none		0.507	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			A	72943455	G	A	72943455	2	1	17	1	0	0	0	0	0	0	0	1	13309	1364	48	2		2	RGS6	14	72943455	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	11085480	72943455	34406085	112	4360										
MAGEL2	54551	hgsc.bcm.edu	37	chr15	23889331	23889331	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gctggtttccaggaatgctcGagggccccagaggaactcat	13	11	1	1	rs368965952		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr15:23889331G>A	ENST00000532292.1	-	1	1844	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	467					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGAATGCTCGAGGGCCCCAG	0.507																																					p.R1187X		Atlas-SNP	.											.	MAGEL2	108	.	0			c.C3559T						PASS	.						52	53	53					15																	23889331		1908	4117	6025	SO:0001587	stop_gained	54551	exon1			ATGCTCGAGGGCC	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1750C>T	15.37:g.23889331G>A	ENSP00000433433:p.Arg584*	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	87	26	0.298851	NM_019066		Nonsense_Mutation	SNP	ENST00000532292.1	37																																																																																				.	.	alt		0.507	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		A	23889331	G	A	23889331	4	1	17	1	0	0	0	0	0	1	0	0	9189	1066	37	1	194	1	MAGEL2	15	23889331	Nonsense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10		23889331	78642061	113	4361										
C15orf43	145645	hgsc.bcm.edu	37	chr15	45253735	45253735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccacagaaataagaagaaaaAttggtagttttatttgggaa	9	3	0	3	rs77033860	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr15:45253735A>T	ENST00000340827.3	+	4	318	c.301A>T	c.(301-303)Att>Ttt	p.I101F	RNU6-1332P_ENST00000516666.1_RNA	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	101										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAGAAGAAAAATTGGTAGTTT	0.289																																					p.I101F		Atlas-SNP	.											C15orf43,NS,haematopoietic_neoplasm,0,2	C15orf43	19	2	0			c.A301T						scavenged	.						63	60	61					15																	45253735		2198	4293	6491	SO:0001583	missense	145645	exon4			AGAAAAATTGGTA	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.301A>T	15.37:g.45253735A>T	ENSP00000340644:p.Ile101Phe	Somatic	232	3	0.012931		WXS	Illumina HiSeq	Phase_I	256	9	0.0351562	NM_152448		Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274786	0.40194	.	.	ENSG00000167014	ENST00000340827	T	0.49139	0.79	4.4	3.26	0.37387	.	0.243069	0.31909	N	0.006868	T	0.35008	0.0917	L	0.29908	0.895	0.37417	D	0.913478	P	0.35383	0.498	B	0.37943	0.261	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.141	0.31082	0.7769:0.2231:0.0:0.0	.	101	Q8NHR7	CO043_HUMAN	F	101	ENSP00000340644:I101F	ENSP00000340644:I101F	I	+	1	0	C15orf43	43041027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	0.650000	0.30769	0.448000	0.29417	ATT	A|0.989;T|0.011	0.011	strong		0.289	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		T	45253735	A	T	45253735	3	4	17	1	0	0	0	0	1	0	0	0	1797	101	4	5	315	5	C15orf43	15	45253735	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	21364404	45253735	57277657	114	4362										
FEM1B	10116	hgsc.bcm.edu	37	chr15	68583506	68583506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcaagtgcctggctgcccgaGcagttcgggctaatgacatt	12	11	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr15:68583506G>A	ENST00000306917.4	+	2	2425	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	604					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGCTGCCCGAGCAGTTCGGGC	0.408																																					p.A604T		Atlas-SNP	.											.	FEM1B	38	.	0			c.G1810A						PASS	.						57	57	57					15																	68583506		2200	4298	6498	SO:0001583	missense	10116	exon2			GCCCGAGCAGTTC		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1810G>A	15.37:g.68583506G>A	ENSP00000307298:p.Ala604Thr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	109	26	0.238532	NM_015322	O43146	Missense_Mutation	SNP	ENST00000306917.4	37	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773911	0.69992	.	.	ENSG00000169018	ENST00000306917	T	0.45276	0.9	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.33339	1.005	0.80722	D	1	P	0.40660	0.726	B	0.34590	0.186	T	0.10730	-1.0617	10	0.40728	T	0.16	-34.5384	18.7742	0.91904	0.0:0.0:1.0:0.0	.	604	Q9UK73	FEM1B_HUMAN	T	604	ENSP00000307298:A604T	ENSP00000307298:A604T	A	+	1	0	FEM1B	66370560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.793000	0.99091	2.685000	0.91497	0.491000	0.48974	GCA	.	.	none		0.408	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			A	68583506	G	A	68583506	3	1	17	1	0	0	0	0	1	0	0	0	5810	971	34	2	1816	2	FEM1B	15	68583506	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	23329771	68583506	33947886	115	4363										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320146	90320146	+	Silent	SNP	G	G	A													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caggggcaagggcaggggcaGgggcaggggcaagggcaggg					rs56192595|rs199821487|rs28546919		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr15:90320146G>A	ENST00000341735.3	+	1	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	186	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ggcaggggcaggggcaggggc	0.781																																					p.Q186Q		Atlas-SNP	.											.	MESP2	20	.	0			c.G558A						PASS	.						2	2	2					15																	90320146		1056	2363	3419	SO:0001819	synonymous_variant	145873	exon1			GGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.558G>A	15.37:g.90320146G>A		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	29	27	0.931035	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			A|1.000;|0.000	1.000	weak		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320146	G	A	90320146	2	1	17	1	0	0	0	0	0	0	0	1	9483	991	35	2		2	MESP2	15	90320146	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	21736640	90320146	12211246	116	4364	79	2								
MESP2	145873	hgsc.bcm.edu	37	chr15	90320149	90320149	+	Silent	SNP	G	G	A													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gggcaagggcaggggcagggGcaggggcaagggcaggggca							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr15:90320149G>A	ENST00000341735.3	+	1	561	c.561G>A	c.(559-561)ggG>ggA	p.G187G	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	187	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaggggcaggggcaag	0.781																																					p.G187G		Atlas-SNP	.											.	MESP2	20	.	0			c.G561A						PASS	.						2	3	3					15																	90320149		1334	3199	4533	SO:0001819	synonymous_variant	145873	exon1			GCAGGGGCAGGGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.561G>A	15.37:g.90320149G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	26	11	0.423077	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			.	.	none		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320149	G	A	90320149	2	1	17	1	0	0	0	0	0	0	0	1	9483	1190	42	2		2	MESP2	15	90320149	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	3	90320149	12211243	117	4365	79	2								
PRSS33	260429	hgsc.bcm.edu	37	chr16	2835579	2835579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtcgcacgggcaccgagagcGtgcggggcgaggtggagccc	20	12	0	1	rs7202954	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr16:2835579G>A	ENST00000293851.5	-	4	470	c.311C>T	c.(310-312)aCg>aTg	p.T104M	PRSS33_ENST00000576886.1_Intron|PRSS33_ENST00000570702.1_Missense_Mutation_p.T104M	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.T104M(1)		prostate(1)	1						CACCGAGAGCGTGCGGGGCGA	0.746													G|||	643	0.128395	0.4145	0.0677	5008	,	,		12173	0.0139		0.005	False		,,,				2504	0.0297				p.T104M	NSCLC(194;489 2153 16702 19171 27758)	Atlas-SNP	.											PRSS33,NS,carcinoma,0,1	PRSS33	7	1	1	Substitution - Missense(1)	prostate(1)	c.C311T						scavenged	.		MET/THR	600,2138		28,544,797	2	2	2		311	0.1	0	16	dbSNP_116	2	47,5743		1,45,2849	no	missense	PRSS33	NM_152891.2	81	29,589,3646	AA,AG,GG		0.8117,21.9138,7.5868	possibly-damaging	104/281	2835579	647,7881	1369	2895	4264	SO:0001583	missense	260429	exon4			GAGAGCGTGCGGG	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"Serine peptidases / Serine peptidases"	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.311C>T	16.37:g.2835579G>A	ENSP00000293851:p.Thr104Met	Somatic	2	2	1		WXS	Illumina HiSeq	Phase_I	11	6	0.545455	NM_152891	A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	CCDS42110.1	217	0.09935897435897435	187	0.3800813008130081	23	0.06353591160220995	6	0.01048951048951049	1	0.0013192612137203166	G	10.39	1.336851	0.24253	0.219138	0.008117	ENSG00000103355	ENST00000293851	D	0.88896	-2.44	4.74	0.141	0.14811	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.637530	0.14568	N	0.311635	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	P	0.35612	0.512	B	0.33568	0.166	T	0.03981	-1.0987	9	0.45353	T	0.12	.	2.8287	0.05492	0.0871:0.2745:0.3404:0.298	rs7202954	104	Q8NF86	PRS33_HUMAN	M	104	ENSP00000293851:T104M	ENSP00000293851:T104M	T	-	2	0	PRSS33	2775580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.357000	0.20199	-0.204000	0.10235	-0.492000	0.04666	ACG	G|0.887;A|0.113	0.113	strong		0.746	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891		A	2835579	G	A	2835579	3	1	17	1	0	0	0	0	1	0	0	0	12623	1145	40	1	543	1	PRSS33	16	2835579	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10		2835579	87519174	118	4366										
ALOXE3	59344	hgsc.bcm.edu	37	chr17	8012556	8012556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtagttggggatagccaggaCgccgcgggcccgcaggctgt	18	11	0	0	rs121434232		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:8012556C>T	ENST00000448843.2	-	12	1838	c.1498G>A	c.(1498-1500)Gtc>Atc	p.V500I	ALOXE3_ENST00000380149.1_Missense_Mutation_p.V656I|ALOXE3_ENST00000318227.3_Missense_Mutation_p.V632I	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	500	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		V -> F (in ARCI3; complete loss of the enzyme activity). {ECO:0000269|PubMed:11773004}.		arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ATAGCCAGGACGCCGCGGGCC	0.652																																					p.V632I		Atlas-SNP	.											.	ALOXE3	145	.	0			c.G1894A	GRCh37	CM020012	ALOXE3	M	rs121434232	PASS	.						60	56	57					17																	8012556		2203	4300	6503	SO:0001583	missense	59344	exon12			CCAGGACGCCGCG	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1498G>A	17.37:g.8012556C>T	ENSP00000400581:p.Val500Ile	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	16	0.313726	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.677504	0.88445	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.77620	-1.11;-1.11;-1.11	5.06	4.08	0.47627	Lipoxygenase, C-terminal (3);	0.061563	0.64402	D	0.000003	T	0.81688	0.4875	M	0.71296	2.17	0.41900	D	0.990418	P;P;P	0.45594	0.554;0.862;0.862	B;P;P	0.50136	0.312;0.632;0.632	D	0.84169	0.0433	10	0.72032	D	0.01	-22.8779	12.9038	0.58141	0.0:0.9196:0.0:0.0804	.	632;500;500	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	I	656;632;500	ENSP00000369494:V656I;ENSP00000314879:V632I;ENSP00000400581:V500I	ENSP00000314879:V632I	V	-	1	0	ALOXE3	7953281	0.229000	0.23729	0.393000	0.26258	0.960000	0.62799	0.696000	0.25541	1.369000	0.46134	0.556000	0.70494	GTC	.	.	alt		0.652	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			T	8012556	C	T	8012556	3	4	17	1	0	0	0	0	1	0	0	0	542	536	19	1	657	1	ALOXE3	17	8012556	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		8012556	73182654	119	4367										
TTLL6	284076	hgsc.bcm.edu	37	chr17	46847276	46847276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttttgtgggcagaaaagattTtaacattttcttctgggtta	9	4	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:46847276T>C	ENST00000393382.3	-	14	2365	c.2224A>G	c.(2224-2226)Aaa>Gaa	p.K742E	TTLL6_ENST00000433608.2_Missense_Mutation_p.K435E	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGAAAAGATTTTAACATTTTC	0.468																																					p.K742E		Atlas-SNP	.											.	TTLL6	113	.	0			c.A2224G						PASS	.						85	85	85					17																	46847276		2203	4300	6503	SO:0001583	missense	284076	exon14			AAGATTTTAACAT	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2224A>G	17.37:g.46847276T>C	ENSP00000377043:p.Lys742Glu	Somatic	440	0	0		WXS	Illumina HiSeq	Phase_I	420	120	0.285714	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872466	0.33069	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.19394	2.15	3.94	1.63	0.23807	.	7739.210000	0.00166	U	0.000000	T	0.25419	0.0618	L	0.59436	1.845	0.09310	N	1	P;P	0.43094	0.799;0.728	B;B	0.39339	0.162;0.297	T	0.27905	-1.0060	10	0.46703	T	0.11	.	8.1135	0.30928	0.0:0.0:0.4101:0.5899	.	694;435	Q8N841;G5E937	TTLL6_HUMAN;.	E	742;435;420;694	ENSP00000399211:K420E	ENSP00000302547:K435E	K	-	1	0	TTLL6	44202275	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.571000	0.23669	0.308000	0.22923	0.533000	0.62120	AAA	.	.	none		0.468	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		C	46847276	T	C	46847276	3	2	17	1	0	0	0	0	1	0	0	0	16728	1850	64	2	459	2	TTLL6	17	46847276	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	38834720	46847276	34347934	120	4368										
CCDC47	57003	hgsc.bcm.edu	37	chr17	61833644	61833644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gacttctcccatctctgacaGgatggccaaagagtccggca	10	13	2	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:61833644G>C	ENST00000225726.5	-	8	1286	c.904C>G	c.(904-906)Ctg>Gtg	p.L302V	CCDC47_ENST00000582252.1_Missense_Mutation_p.L302V|CCDC47_ENST00000403162.3_Missense_Mutation_p.L302V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	302					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATCTCTGACAGGATGGCCAAA	0.438																																					p.L302V		Atlas-SNP	.											.	CCDC47	34	.	0			c.C904G						PASS	.						118	110	113					17																	61833644		2203	4300	6503	SO:0001583	missense	57003	exon8			CTGACAGGATGGC	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.904C>G	17.37:g.61833644G>C	ENSP00000225726:p.Leu302Val	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	171	40	0.233918	NM_020198	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369969	0.24771	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	L	0.49350	1.555	0.58432	D	0.999999	D;P	0.67145	0.996;0.788	D;P	0.75484	0.986;0.448	T	0.64901	-0.6298	9	0.44086	T	0.13	-11.4654	9.1184	0.36773	0.2579:0.0:0.7421:0.0	.	302;302	Q96A33-2;Q96A33	.;CCD47_HUMAN	V	302	.	ENSP00000225726:L302V	L	-	1	2	CCDC47	59187376	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.121000	0.50438	1.392000	0.46585	0.655000	0.94253	CTG	.	.	none		0.438	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		C	61833644	G	C	61833644	3	2	17	1	0	0	0	0	1	0	0	0	2818	991	35	4	571	4	CCDC47	17	61833644	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	14986368	61833644	19361566	121	4369										
CD79B	974	hgsc.bcm.edu	37	chr17	62006798	62006798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctgcccctctccttacctcgTaggtgtgatcttcctccatg	7	16	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:62006798T>C	ENST00000006750.3	-	5	679	c.587A>G	c.(586-588)tAc>tGc	p.Y196C	CD79B_ENST00000349817.2_Missense_Mutation_p.Y92C|CD79B_ENST00000392795.3_Missense_Mutation_p.Y197C	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	196	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y196C(1)|p.Y196F(1)|p.Y196S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CCTTACCTCGTAGGTGTGATC	0.632			"Mis, O"		DLBCL																																p.Y197C		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,lymphoid_neoplasm,-1,13	CD79B	38	13	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.A590G						PASS	.						93	74	81					17																	62006798		2203	4300	6503	SO:0001583	missense	974	exon5			ACCTCGTAGGTGT	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.587A>G	17.37:g.62006798T>C	ENSP00000006750:p.Tyr196Cys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	72	24	0.333333	NM_001039933	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151836	0.38021	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	D;D;D	0.96651	-4.08;-4.08;-4.08	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.95601	0.8570	N	0.24115	0.695	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.95387	0.8478	10	0.87932	D	0	-12.4743	9.5968	0.39578	0.0:0.0:0.0:1.0	.	92;196	P40259-2;P40259	.;CD79B_HUMAN	C	92;197;196	ENSP00000245862:Y92C;ENSP00000376544:Y197C;ENSP00000006750:Y196C	ENSP00000006750:Y196C	Y	-	2	0	CD79B	59360530	0.997000	0.39634	0.977000	0.42913	0.245000	0.25701	3.902000	0.56310	1.782000	0.52362	0.358000	0.22013	TAC	.	.	none		0.632	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			C	62006798	T	C	62006798	3	2	17	1	0	0	0	0	1	0	0	0	3037	1638	57	2	110	2	CD79B	17	62006798	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	173154	62006798	19188412	122	4370										
CD79B	974	hgsc.bcm.edu	37	chr17	62007630	62007635	+	In_Frame_Del	DEL	CCAGAG	CCAGAG	-													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttctcgtccatctcctgcttCcagagccagctcacattgcc							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	CCAGAG	CCAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:62007630_62007635delCCAGAG	ENST00000006750.3	-	3	321_326	c.229_234delCTCTGG	c.(229-234)ctctggdel	p.LW77del	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_In_Frame_Del_p.LW78del	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	77	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCTCCTGCTTCCAGAGCCAGCTCACA	0.573			"Mis, O"		DLBCL																																p.78_80del		Pindel,Atlas-Indel	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	.	CD79B	38	.	0			c.233_238del						PASS	.																																			SO:0001651	inframe_deletion	974	exon3			.	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.229_234delCTCTGG	17.37:g.62007630_62007635delCCAGAG	ENSP00000006750:p.Leu77_Trp78del	Somatic	104	.	.		WXS	Illumina HiSeq	Phase_I	67	11	0.164	NM_001039933	Q53FS2|Q9BU06	In_Frame_Del	DEL	ENST00000006750.3	37	CCDS11655.1																																																																																			.	.	none		0.573	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			-	62007635	CCAGAG	-	62007630	7	5	17	1	0	1	0	1	0	0	0	0	3037	856	30	0	471	0	CD79B	17	62007630	In_Frame_Del	DEL	CCAGAG	TCGA-FF-A7CQ-01A-11D-A382-10	832	62007630	19187580	123	4371										
ITGB4	3691	hgsc.bcm.edu	37	chr17	73727034	73727034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	acatcgtggagctgctggagGaggccttcaatgtgagggca	16	8	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr17:73727034G>A	ENST00000200181.3	+	9	1268	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	ITGB4_ENST00000579662.1_Missense_Mutation_p.E361K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361K|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCTGGAGGAGGCCTTCAA	0.612																																					p.E361K		Atlas-SNP	.											.	ITGB4	165	.	0			c.G1081A						PASS	.						84	84	84					17																	73727034		2203	4300	6503	SO:0001583	missense	3691	exon9			CTGGAGGAGGCCT		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1081G>A	17.37:g.73727034G>A	ENSP00000200181:p.Glu361Lys	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	37	8	0.216216	NM_001005731	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148655	0.37923	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97752	-4.52;-4.52;-4.52	5.42	5.42	0.78866	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.94525	0.8237	L	0.28556	0.865	0.09310	N	1	B;B;B;B	0.33448	0.081;0.2;0.238;0.412	B;B;B;B	0.34242	0.061;0.047;0.114;0.178	D	0.88349	0.2980	10	0.24483	T	0.36	.	12.1854	0.54236	0.1235:0.0:0.8765:0.0	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	K	277;361;361;361	ENSP00000200181:E361K;ENSP00000344079:E361K;ENSP00000400217:E361K	ENSP00000200181:E361K	E	+	1	0	ITGB4	71238629	0.214000	0.23563	1.000000	0.80357	0.949000	0.60115	1.951000	0.40333	2.545000	0.85829	0.557000	0.71058	GAG	.	.	none		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73727034	G	A	73727034	3	1	17	1	0	0	0	0	1	0	0	0	7897	1175	41	2	1111	2	ITGB4	17	73727034	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	11719404	73727034	7468176	124	4372										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2732488	2732491	+	Splice_Site	DEL	AAAG	AAAG	-													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cagctttagcagaaaaaattAaagtaagtatctctaacaga							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:2732488_2732491delAAAG	ENST00000320876.6	+	25	3612_3614	c.3274_3276delAAAG	c.(3274-3276)aaadel	p.K1092fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.K1092fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1092					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGAAAAAATTAAAGTAAGTATCTC	0.284																																					p.1091_1092del		Atlas-Indel	.											.	SMCHD1	88	.	0			c.3273_3276del						PASS	.																																			SO:0001630	splice_region_variant	23347	exon25			.	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3276+1AAAG>-	18.37:g.2732488_2732491delAAAG		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	144	16	0.111111	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	CCDS45822.1																																																																																			.	.	none		0.284	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Frame_Shift_Del	-	2732491	AAAG	-	2732488	8	5	17	1	0	1	0	1	0	0	1	0	14788	363	13	0	3372	0	SMCHD1	18	2732488	Splice_Site	DEL	AAAG	TCGA-FF-A7CQ-01A-11D-A382-10		2732488	75344760	125	4373										
TGIF1	7050	hgsc.bcm.edu	37	chr18	3451989	3451989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gtttcgaggatggttctagcGcagagccgggtgtctgccgg	17	9	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:3451989G>A	ENST00000330513.5	+	1	315	c.12G>A	c.(10-12)gcG>gcA	p.A4A	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	4					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGGTTCTAGCGCAGAGCCGGG	0.652																																					p.A4A		Atlas-SNP	.											.	TGIF1	41	.	0			c.G12A						PASS	.						31	35	34					18																	3451989		2203	4300	6503	SO:0001819	synonymous_variant	7050	exon1			TCTAGCGCAGAGC	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.12G>A	18.37:g.3451989G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	226	28	0.123894	NM_170695	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	37	CCDS11834.1																																																																																			.	.	none		0.652	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		A	3451989	G	A	3451989	2	1	17	1	0	0	0	0	0	0	0	1	15822	1074	38	1		1	TGIF1	18	3451989	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	719501	3451989	74625259	126	4374										
KLHL14	57565	hgsc.bcm.edu	37	chr18	30350266	30350266	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctcctcctgcggcggcggctGctgctgctgtgacggctgct	15	15	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:30350266G>A	ENST00000359358.4	-	2	727	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Nonsense_Mutation_p.Q97*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ggcggcggctgctgctgctgt	0.736																																					p.Q97X		Atlas-SNP	.											.	KLHL14	92	.	0			c.C289T						PASS	.						13	19	17					18																	30350266		2140	4213	6353	SO:0001587	stop_gained	57565	exon2			GCGGCTGCTGCTG	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.289C>T	18.37:g.30350266G>A	ENSP00000352314:p.Gln97*	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	204	38	0.186275	NM_020805	A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136803	0.77662	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	.	.	.	4.14	4.14	0.48551	.	0.341802	0.26338	N	0.024957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	11.7742	0.51977	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000350808:Q97X	Q	-	1	0	KLHL14	28604264	0.999000	0.42202	0.955000	0.39395	0.984000	0.73092	0.703000	0.25646	2.141000	0.66446	0.460000	0.39030	CAG	.	.	none		0.736	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			A	30350266	G	A	30350266	4	1	17	1	0	0	0	0	0	1	0	0	8370	1328	46	2	1629	2	KLHL14	18	30350266	Nonsense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	26898277	30350266	47726982	127	4375										
C18orf34	374864	hgsc.bcm.edu	37	chr18	30950118	30950118	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tacggcacagctgtgacgtcGacatgggtagctaaagtaaa	12	8	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:30950118G>A	ENST00000383096.3	-	6	426	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CCDC178_ENST00000579916.1_Nonsense_Mutation_p.R82*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.R82*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.R82*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.R82*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.R82*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.R82*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.R82*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	82																	CTGTGACGTCGACATGGGTAG	0.368																																					p.R82X		Atlas-SNP	.											.	.	.	.	0			c.C244T						PASS	.						74	66	69					18																	30950118		2203	4300	6503	SO:0001587	stop_gained	374864	exon5			GACGTCGACATGG	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.244C>T	18.37:g.30950118G>A	ENSP00000372576:p.Arg82*	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	129	41	0.317829	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148756	0.57151	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4729	14.8979	0.70656	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000300227:R82X	R	-	1	2	C18orf34	29204116	0.978000	0.34361	0.949000	0.38748	0.248000	0.25809	1.567000	0.36407	2.589000	0.87451	0.555000	0.69702	CGA	.	.	none		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30950118	G	A	30950118	4	1	17	1	0	0	0	0	0	1	0	0	1902	1066	37	1	2431	1	C18orf34	18	30950118	Nonsense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	599852	30950118	47127130	128	4376										
CDH20	28316	hgsc.bcm.edu	37	chr18	59203733	59203733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	catgtttctgcagatactccAttgatagaagcagtgaccct	8	10	1	4			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:59203733A>C	ENST00000262717.4	+	8	1677	c.1279A>C	c.(1279-1281)Att>Ctt	p.I427L	CDH20_ENST00000538374.1_Missense_Mutation_p.I427L|CDH20_ENST00000536675.2_Missense_Mutation_p.I427L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGATACTCCATTGATAGAAG	0.423																																					p.I427L		Atlas-SNP	.											.	CDH20	117	.	0			c.A1279C						PASS	.						220	201	207					18																	59203733		2203	4300	6503	SO:0001583	missense	28316	exon7			TACTCCATTGATA	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1279A>C	18.37:g.59203733A>C	ENSP00000262717:p.Ile427Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	252	41	0.162698	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405638	0.62288	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.55413	0.52;0.52;0.52	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.45137	1.4	0.58432	D	0.999996	B	0.21753	0.06	B	0.31101	0.124	T	0.46105	-0.9215	10	0.41790	T	0.15	.	15.641	0.77001	1.0:0.0:0.0:0.0	.	427	Q9HBT6	CAD20_HUMAN	L	427	ENSP00000444767:I427L;ENSP00000442226:I427L;ENSP00000262717:I427L	ENSP00000262717:I427L	I	+	1	0	CDH20	57354713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.669000	0.91163	2.158000	0.67659	0.523000	0.50628	ATT	.	.	none		0.423	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		C	59203733	A	C	59203733	3	2	17	1	0	0	0	0	1	0	0	0	3106	217	8	5	1305	5	CDH20	18	59203733	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	28253615	59203733	18873515	129	4377										
CDH7	1005	hgsc.bcm.edu	37	chr18	63527021	63527021	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tacttcagcttaacaacggaTgcaacaaataaccacaactt	4	11	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr18:63527021T>C	ENST00000397968.2	+	10	1998	c.1572T>C	c.(1570-1572)gaT>gaC	p.D524D	CDH7_ENST00000536984.2_Silent_p.D524D|CDH7_ENST00000323011.3_Silent_p.D524D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	524	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAACAACGGATGCAACAAATA	0.358																																					p.D524D		Atlas-SNP	.											.	CDH7	362	.	0			c.T1572C						PASS	.						104	86	92					18																	63527021		2203	4299	6502	SO:0001819	synonymous_variant	1005	exon10			AACGGATGCAACA	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1572T>C	18.37:g.63527021T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	161	19	0.118012	NM_004361	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			.	.	none		0.358	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63527021	T	C	63527021	2	2	17	1	0	0	0	0	0	0	0	1	3115	1461	51	2		2	CDH7	18	63527021	Silent	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	4323288	63527021	14550227	130	4378										
STAP2	55620	hgsc.bcm.edu	37	chr19	4328706	4328706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccgcgtggtgaccgacacgcCgtcggcgccgtccccgctgg	15	18	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:4328706C>T	ENST00000594605.1	-	6	679	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	STAP2_ENST00000597593.1_5'Flank|STAP2_ENST00000600324.1_Missense_Mutation_p.G186S	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	186	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGACACGCCGTCGGCGCCG	0.716																																					p.G186S		Atlas-SNP	.											.	STAP2	38	.	0			c.G556A						PASS	.																																			SO:0001583	missense	55620	exon6			ACACGCCGTCGGC	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.556G>A	19.37:g.4328706C>T	ENSP00000471052:p.Gly186Ser	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	114	36	0.315789	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	3.199	-0.164145	0.06502	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	0.897	0.19258	SH2 motif (3);	1.373150	0.05071	N	0.481758	T	0.17746	0.0426	N	0.03608	-0.345	0.19945	N	0.999944	B;B	0.14012	0.009;0.002	B;B	0.12837	0.008;0.004	T	0.25779	-1.0122	9	0.87932	D	0	-8.0506	4.4444	0.11589	0.0:0.5903:0.1844:0.2253	.	186;186	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	S	186	.	ENSP00000317912:G186S	G	-	1	0	STAP2	4279706	0.000000	0.05858	0.170000	0.22879	0.499000	0.33736	0.007000	0.13174	0.282000	0.22254	0.479000	0.44913	GGC	.	.	none		0.716	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		T	4328706	C	T	4328706	3	4	17	1	0	0	0	0	1	0	0	0	15252	652	23	1	825	1	STAP2	19	4328706	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		4328706	54800277	131	4379										
RFX2	5990	hgsc.bcm.edu	37	chr19	6016117	6016117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccacctggtgcccagccgccGcgttctcagccccataaaca	8	19	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:6016117G>A	ENST00000303657.5	-	7	912	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	RFX2_ENST00000592546.1_Missense_Mutation_p.R230W|RFX2_ENST00000359161.3_Missense_Mutation_p.R255W|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCAGCCGCCGCGTTCTCAGC	0.577																																					p.R255W	Colon(38;171 817 19800 47433 48051)	Atlas-SNP	.											.	RFX2	60	.	0			c.C763T						PASS	.						72	67	68					19																	6016117		2203	4300	6503	SO:0001583	missense	5990	exon7			GCCGCCGCGTTCT		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.763C>T	19.37:g.6016117G>A	ENSP00000306335:p.Arg255Trp	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	69	20	0.289855	NM_000635	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570825	0.65765	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	D	0.92348	-3.02	4.55	2.16	0.27623	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.96688	0.8919	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96970	0.9708	10	0.87932	D	0	-29.2202	12.3587	0.55190	0.0:0.0:0.6993:0.3007	.	230;255	P48378-2;P48378	.;RFX2_HUMAN	W	255;230	ENSP00000306335:R255W	ENSP00000306335:R255W	R	-	1	2	RFX2	5967117	1.000000	0.71417	0.918000	0.36340	0.578000	0.36192	5.299000	0.65716	0.996000	0.38943	0.561000	0.74099	CGG	.	.	none		0.577	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		A	6016117	G	A	6016117	3	1	17	1	0	0	0	0	1	0	0	0	13263	1086	38	1	1456	1	RFX2	19	6016117	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1687411	6016117	53112866	132	4380										
ELAVL1	1994	hgsc.bcm.edu	37	chr19	8046064	8046064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcacaaagccatagcccaagCtgtgtcctgtgcaagagaac	9	12	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:8046064C>T	ENST00000407627.2	-	3	308	c.179G>A	c.(178-180)aGc>aAc	p.S60N	ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60N|ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87N|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	60	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGCCCAAGCTGTGTCCTGT	0.527																																					p.S60N		Atlas-SNP	.											.	ELAVL1	44	.	0			c.G179A						PASS	.						164	118	133					19																	8046064		2203	4300	6503	SO:0001583	missense	1994	exon3			CCCAAGCTGTGTC	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.179G>A	19.37:g.8046064C>T	ENSP00000385269:p.Ser60Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	86	26	0.302326	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460172	0.96240	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.78481	-1.18;-1.18	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	L	0.61218	1.895	0.80722	D	1	P	0.38729	0.644	B	0.40101	0.319	T	0.80997	-0.1132	10	0.87932	D	0	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	60	Q15717	ELAV1_HUMAN	N	60;87	ENSP00000385269:S60N;ENSP00000264073:S87N	ENSP00000264073:S87N	S	-	2	0	ELAVL1	7952064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.225000	0.78051	2.719000	0.93026	0.655000	0.94253	AGC	.	.	none		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		T	8046064	C	T	8046064	3	4	17	1	0	0	0	0	1	0	0	0	5049	797	28	2	817	2	ELAVL1	19	8046064	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	2029947	8046064	51082919	133	4381										
MUC16	94025	hgsc.bcm.edu	37	chr19	8993393	8993393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cattgacatagagactgtccCtgtccagtgtgtaggggccc	12	11	0	2	rs376237412		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:8993393C>A	ENST00000397910.4	-	66	41899	c.41696G>T	c.(41695-41697)aGg>aTg	p.R13899M	MUC16_ENST00000380951.5_Missense_Mutation_p.R540M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13902	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTCCCTGTCCAGTGT	0.562																																					p.R13899M		Atlas-SNP	.											.	MUC16	4315	.	0			c.G41696T						PASS	.						157	145	149					19																	8993393		2058	4191	6249	SO:0001583	missense	94025	exon66			CTGTCCCTGTCCA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41696G>T	19.37:g.8993393C>A	ENSP00000381008:p.Arg13899Met	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	114	28	0.245614	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.61|12.61	1.988656|1.988656	0.35131|0.35131	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.25579	.|1.79;1.79	3.61|3.61	-6.75|-6.75	0.01738|0.01738	.|.	.|2.513830	.|0.02296	.|U	.|0.070703	T|T	0.46541|0.46541	0.1398|0.1398	M|M	0.74881|0.74881	2.28|2.28	.|.	.|.	.|.	.|P;D	.|0.60575	.|0.79;0.988	.|B;D	.|0.78314	.|0.339;0.991	T|T	0.60752|0.60752	-0.7201|-0.7201	4|9	.|0.66056	.|D	.|0.02	.|.	7.8879|7.8879	0.29661|0.29661	0.0:0.1805:0.1386:0.6809|0.0:0.1805:0.1386:0.6809	.|.	.|21544;13899	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	W|M	739|13899;540	.|ENSP00000381008:R13899M;ENSP00000370338:R540M	.|ENSP00000370338:R540M	G|R	-|-	1|2	0|0	MUC16|MUC16	8854393|8854393	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.619000|-0.619000	0.05572|0.05572	-1.236000|-1.236000	0.02542|0.02542	-1.011000|-1.011000	0.02470|0.02470	GGG|AGG	.	.	alt		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8993393	C	A	8993393	3	1	17	1	0	0	0	0	1	0	0	0	9973	681	24	4	1903	4	MUC16	19	8993393	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	947329	8993393	50135590	134	4382										
MUC16	94025	hgsc.bcm.edu	37	chr19	9017365	9017365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccattgacatagagactgttCctgtccagggtgtaggggcc	13	10	0	2			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:9017365C>T	ENST00000397910.4	-	26	38162	c.37959G>A	c.(37957-37959)agG>agA	p.R12653R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12655	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACTGTTCCTGTCCAGGG	0.567																																					p.R12653R		Atlas-SNP	.											MUC16_ENST00000397910,bladder,carcinoma,-1,2	MUC16	4315	2	0			c.G37959A						scavenged	.						198	184	189					19																	9017365		1952	4156	6108	SO:0001819	synonymous_variant	94025	exon26			ACTGTTCCTGTCC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37959G>A	19.37:g.9017365C>T		Somatic	241	8	0.033195		WXS	Illumina HiSeq	Phase_I	209	11	0.0526316	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.	.	none		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9017365	C	T	9017365	2	4	17	1	0	0	0	0	0	0	0	1	9973	854	30	2		2	MUC16	19	9017365	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	23972	9017365	50111618	135	4383										
OR7G1	125962	hgsc.bcm.edu	37	chr19	9226244	9226244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	acagatgtcagtaaaggagaGattaaagagaaggaagtaca	12	3	1	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:9226244G>C	ENST00000541538.1	-	1	195	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V	OR7G1_ENST00000293614.1_Missense_Mutation_p.L66V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTAAAGGAGAGATTAAAGAGA	0.493																																					p.L66V		Atlas-SNP	.											.	OR7G1	53	.	0			c.C196G						PASS	.						162	159	160					19																	9226244		2203	4300	6503	SO:0001583	missense	125962	exon1			AGGAGAGATTAAA		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.196C>G	19.37:g.9226244G>C	ENSP00000444134:p.Leu66Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	135	42	0.311111	NM_001005192	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	12.27	1.888842	0.33348	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00587	6.38;6.38	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31566	U	0.007425	T	0.03959	0.0111	H	0.98866	4.355	0.26521	N	0.974429	D	0.60160	0.987	P	0.58721	0.844	T	0.13098	-1.0522	10	0.87932	D	0	.	7.8169	0.29265	0.1236:0.0:0.8764:0.0	.	66	Q8NGA0	OR7G1_HUMAN	V	66	ENSP00000293614:L66V;ENSP00000444134:L66V	ENSP00000293614:L66V	L	-	1	0	OR7G1	9087244	0.000000	0.05858	0.405000	0.26409	0.111000	0.19643	-0.465000	0.06680	1.978000	0.57642	0.411000	0.27672	CTC	.	.	none		0.493	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			C	9226244	G	C	9226244	3	2	17	1	0	0	0	0	1	0	0	0	11222	942	33	4	813	4	OR7G1	19	9226244	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	208879	9226244	49902739	136	4384										
KANK2	25959	hgsc.bcm.edu	37	chr19	11289041	11289041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccgccgttgacccccacgaaCtggaggctcctccggtgggc	13	17	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:11289041C>T	ENST00000586659.1	-	6	1814	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	KANK2_ENST00000432929.2_Silent_p.Q508Q|KANK2_ENST00000355150.5_Silent_p.Q500Q|KANK2_ENST00000589359.1_Silent_p.Q508Q|KANK2_ENST00000589894.1_Silent_p.Q500Q			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	500					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCCCACGAACTGGAGGCTCC	0.652																																					p.Q508Q		Atlas-SNP	.											.	KANK2	47	.	0			c.G1524A						PASS	.						18	21	20					19																	11289041		2203	4297	6500	SO:0001819	synonymous_variant	25959	exon4			CACGAACTGGAGG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1500G>A	19.37:g.11289041C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	82	20	0.243902	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																			.	.	none		0.652	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		T	11289041	C	T	11289041	2	4	17	1	0	0	0	0	0	0	0	1	7977	564	20	2		2	KANK2	19	11289041	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	2062797	11289041	47839942	137	4385										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17081795	17081795	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggtgtagaggccaccgtcctGccggtggttcaggctcactc	14	13	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:17081795G>A	ENST00000443236.1	-	18	2291	c.2260C>T	c.(2260-2262)Cag>Tag	p.Q754*	CPAMD8_ENST00000388925.4_Missense_Mutation_p.A496V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	707						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACCGTCCTGCCGGTGGTTC	0.627																																					p.Q754X		Atlas-SNP	.											CPAMD8,right_upper_lobe,carcinoma,+1,1	CPAMD8	192	1	0			c.C2260T						PASS	.						56	61	59					19																	17081795		2069	4191	6260	SO:0001587	stop_gained	27151	exon18			CGTCCTGCCGGTG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2260C>T	19.37:g.17081795G>A	ENSP00000402505:p.Gln754*	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	11	0.255814	NM_015692	Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.759309|7.759309	0.98474|0.98474	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000388925|ENST00000291440	T|.	0.54071|.	0.59|.	3.18|3.18	3.18|3.18	0.36537|0.36537	.|.	.|0.227351	.|0.29178	.|U	.|0.012906	T|.	0.37571|.	0.1008|.	.|.	.|.	.|.	0.36263|0.36263	D|D	0.854687|0.854687	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31392|.	-0.9945|.	6|.	0.39692|0.06365	T|T	0.17|0.9	.|.	14.3292|14.3292	0.66541|0.66541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	496|754	ENSP00000373577:A496V|.	ENSP00000373577:A496V|ENSP00000291440:Q754X	A|Q	-|-	2|1	0|0	CPAMD8|CPAMD8	16942795|16942795	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.933000|0.933000	0.57130|0.57130	6.082000|6.082000	0.71318|0.71318	1.331000|1.331000	0.45412|0.45412	0.650000|0.650000	0.86243|0.86243	GCA|CAG	.	.	none		0.627	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17081795	G	A	17081795	4	1	17	1	0	0	0	0	0	1	0	0	3795	1328	46	2	3638	2	CPAMD8	19	17081795	Nonsense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	5792754	17081795	42047188	138	4386										
LOC729991-MEF2B	100271849	hgsc.bcm.edu	37	chr19	19261528	19261529	+	Frame_Shift_Ins	INS	-	-	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	caggatgcgggagatctggaINStttttttcctccccatcgtc							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:19261528_19261529insT	ENST00000602424.2	-	4	742_743	c.16_17insA	c.(16-18)atcfs	p.I6fs	MEF2B_ENST00000424583.2_Frame_Shift_Ins_p.I6fs|MEF2B_ENST00000410050.1_Frame_Shift_Ins_p.I6fs|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409447.2_Frame_Shift_Ins_p.I6fs|MEF2B_ENST00000162023.5_Frame_Shift_Ins_p.I6fs|MEF2BNB-MEF2B_ENST00000514819.3_Frame_Shift_Ins_p.I23fs|MEF2BNB-MEF2B_ENST00000444486.3_Frame_Shift_Ins_p.I6fs|MEF2B_ENST00000409224.1_Frame_Shift_Ins_p.I6fs	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	6	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGAGATCTGGATTTTTTTCCTC	0.564																																					p.I6fs		Pindel,Atlas-Indel	.											.	MEF2BNB-MEF2B	29	.	0			c.17_18insA						PASS	.																																			SO:0001589	frameshift_variant	4207	exon4			.	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.17dupA	19.37:g.19261535_19261535dupT	ENSP00000473308:p.Ile6fs	Somatic	154	.	.		WXS	Illumina HiSeq	Phase_I	180	37	0.206	NM_005919	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Frame_Shift_Ins	INS	ENST00000602424.2	37	CCDS12394.1																																																																																			.	.	none		0.564	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		T	19261529	-	T	19261528	7	5	17	1	0	1	1	0	0	0	0	0	8889	333	12	0	1108	0	LOC729991-MEF2B	19	19261528	Frame_Shift_Ins	INS	-	TCGA-FF-A7CQ-01A-11D-A382-10	2179733	19261528	39867455	139	4387										
ZNF780A	284323	hgsc.bcm.edu	37	chr19	40581535	40581535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ttcatatggttttacaccagAatgaatactctgatgttgaa	7	6	2	4			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:40581535A>C	ENST00000595687.2	-	6	1023	c.814T>G	c.(814-816)Tct>Gct	p.S272A	ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A|ZNF780A_ENST00000450241.2_Missense_Mutation_p.S238A|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S273A(1)|p.S238A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACACCAGAATGAATACTC	0.388																																					p.S273A		Atlas-SNP	.											ZNF780A,NS,carcinoma,0,2	ZNF780A	156	2	2	Substitution - Missense(2)	lung(2)	c.T817G						scavenged	.						171	175	174					19																	40581535		2203	4300	6503	SO:0001583	missense	284323	exon6			CACCAGAATGAAT	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.814T>G	19.37:g.40581535A>C	ENSP00000472189:p.Ser272Ala	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	227	3	0.0132159	NM_001142577	E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819004	0.32145	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.19806	2.12;2.12	1.92	-1.93	0.07594	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	L	0.31294	0.92	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31503	-0.9941	9	0.56958	D	0.05	.	2.3259	0.04222	0.2419:0.2846:0.0:0.4736	.	273;272	E9PB48;O75290	.;Z780A_HUMAN	A	272;273;272	ENSP00000400997:S273A;ENSP00000341507:S272A	ENSP00000341507:S272A	S	-	1	0	ZNF780A	45273375	0.895000	0.30542	0.545000	0.28153	0.813000	0.45954	0.030000	0.13688	-0.258000	0.09446	-0.780000	0.03373	TCT	.	.	none		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		C	40581535	A	C	40581535	3	2	17	1	0	0	0	0	1	0	0	0	18149	246	9	5	1242	5	ZNF780A	19	40581535	Missense_Mutation	SNP	A	TCGA-FF-A7CQ-01A-11D-A382-10	21320007	40581535	18547448	140	4388										
MYH14	79784	hgsc.bcm.edu	37	chr19	50753007	50753007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggagcaggaggagtaccagcGtgagggcatcccctggacct	16	11	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:50753007G>A	ENST00000596571.1	+	12	1559	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	MYH14_ENST00000440075.2_Missense_Mutation_p.R528H|MYH14_ENST00000262269.8_Missense_Mutation_p.R528H|MYH14_ENST00000601313.1_Missense_Mutation_p.R528H|MYH14_ENST00000598205.1_Missense_Mutation_p.R528H|MYH14_ENST00000376970.2_Missense_Mutation_p.R520H|MYH14_ENST00000425460.1_Missense_Mutation_p.R528H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	520	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGTACCAGCGTGAGGGCATC	0.622																																					p.R528H		Atlas-SNP	.											MYH14_ENST00000262269,NS,carcinoma,+1,2	MYH14	261	2	0			c.G1583A						PASS	.						177	150	159					19																	50753007		2203	4300	6503	SO:0001583	missense	79784	exon14			ACCAGCGTGAGGG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1559G>A	19.37:g.50753007G>A	ENSP00000472819:p.Arg520His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	96	28	0.291667	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893565	0.91889	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	4.37	4.37	0.52481	Myosin head, motor domain (2);	.	.	.	.	D	0.88923	0.6569	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.976;0.965;0.913	D	0.91720	0.5388	9	0.87932	D	0	.	14.7979	0.69891	0.0:0.0:1.0:0.0	.	528;520;528	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	520;528;520;528;520;528	ENSP00000406273:R528H;ENSP00000366169:R520H;ENSP00000407879:R528H;ENSP00000262269:R528H	ENSP00000262269:R528H	R	+	2	0	MYH14	55444819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.602000	0.82796	2.429000	0.82318	0.655000	0.94253	CGT	.	.	none		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50753007	G	A	50753007	3	1	17	1	0	0	0	0	1	0	0	0	10033	1145	40	1	1633	1	MYH14	19	50753007	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	10171472	50753007	8375976	141	4389										
ZNF677	342926	hgsc.bcm.edu	37	chr19	53740528	53740528	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcagtacatttgtaaggtttCtctccagtatgagttctctg	8	8	3	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:53740528C>G	ENST00000598513.1	-	5	1602	c.1452G>C	c.(1450-1452)gaG>gaC	p.E484D	ZNF677_ENST00000333952.4_Missense_Mutation_p.E484D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E484D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTAAGGTTTCTCTCCAGTAT	0.358																																					p.E484D		Atlas-SNP	.											ZNF677,colon,carcinoma,0,2	ZNF677	94	2	1	Substitution - Missense(1)	large_intestine(1)	c.G1452C						PASS	.						70	69	70					19																	53740528		2203	4300	6503	SO:0001583	missense	342926	exon5			AGGTTTCTCTCCA	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1452G>C	19.37:g.53740528C>G	ENSP00000469391:p.Glu484Asp	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	139	46	0.330935	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720032	0.48728	.	.	ENSG00000197928	ENST00000333952	T	0.26810	1.71	2.21	1.06	0.20224	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003049	T	0.23926	0.0579	L	0.37630	1.12	0.24758	N	0.992942	P	0.49185	0.92	P	0.50192	0.634	T	0.06499	-1.0823	10	0.72032	D	0.01	.	6.2797	0.21001	0.0:0.8126:0.0:0.1874	.	484	Q86XU0	ZN677_HUMAN	D	484	ENSP00000334394:E484D	ENSP00000334394:E484D	E	-	3	2	ZNF677	58432340	0.810000	0.29049	0.999000	0.59377	0.915000	0.54546	0.297000	0.19101	0.413000	0.25759	-0.345000	0.07892	GAG	.	.	none		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		G	53740528	C	G	53740528	3	3	17	1	0	0	0	0	1	0	0	0	18081	912	32	4	306	4	ZNF677	19	53740528	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	2987521	53740528	5388455	142	4390										
EPS8L1	54869	hgsc.bcm.edu	37	chr19	55593906	55593906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	atgccgtggcgctgctgcggGacaacgtcactccacgtgaa	13	13	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:55593906G>A	ENST00000201647.6	+	12	1206	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	EPS8L1_ENST00000245618.5_Missense_Mutation_p.D257N|EPS8L1_ENST00000588359.1_Missense_Mutation_p.D38N|EPS8L1_ENST00000540810.1_Missense_Mutation_p.D320N|EPS8L1_ENST00000586329.1_Missense_Mutation_p.D366N|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	384					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)		GCTGCTGCGGGACAACGTCAC	0.692																																					p.D384N	Ovarian(149;255 1863 3636 27051 29647)	Atlas-SNP	.											.	EPS8L1	122	.	0			c.G1150A						PASS	.						14	12	13					19																	55593906		2175	4264	6439	SO:0001583	missense	54869	exon12			CTGCGGGACAACG	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.1150G>A	19.37:g.55593906G>A	ENSP00000201647:p.Asp384Asn	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	64	14	0.21875	NM_133180	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	8.107	0.777937	0.16120	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.21734	1.99;1.99;1.99	4.05	4.05	0.47172	.	0.303746	0.34435	N	0.003973	T	0.07954	0.0199	N	0.04880	-0.145	0.27125	N	0.962039	B;B;B;B;B	0.33694	0.421;0.004;0.002;0.002;0.002	B;B;B;B;B	0.29785	0.107;0.004;0.007;0.002;0.003	T	0.23332	-1.0191	10	0.02654	T	1	-29.3165	11.9005	0.52680	0.0:0.0:1.0:0.0	.	320;366;131;257;384	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	N	366;384;320;257;38	ENSP00000201647:D384N;ENSP00000437541:D320N;ENSP00000245618:D257N	ENSP00000201647:D384N	D	+	1	0	EPS8L1	60285718	0.353000	0.24904	0.976000	0.42696	0.927000	0.56198	2.970000	0.49240	2.262000	0.75019	0.561000	0.74099	GAC	.	.	none		0.692	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		A	55593906	G	A	55593906	3	1	17	1	0	0	0	0	1	0	0	0	5195	1174	41	2	1244	2	EPS8L1	19	55593906	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1853378	55593906	3535077	143	4391										
NLRP9	338321	hgsc.bcm.edu	37	chr19	56244737	56244737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggttgtttttccaattccatCaggaccttccaggaccacag	8	12	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:56244737C>T	ENST00000332836.2	-	2	487	c.460G>A	c.(460-462)Gat>Aat	p.D154N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	154	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAATTCCATCAGGACCTTCC	0.408																																					p.D154N		Atlas-SNP	.											.	NLRP9	163	.	0			c.G460A						PASS	.						84	80	81					19																	56244737		2203	4300	6503	SO:0001583	missense	338321	exon2			TTCCATCAGGACC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.460G>A	19.37:g.56244737C>T	ENSP00000331857:p.Asp154Asn	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	138	41	0.297101	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529542	0.13127	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.61392	0.11	2.63	-5.25	0.02781	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43853	0.1266	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.41135	0.348	T	0.51585	-0.8687	9	0.33141	T	0.24	.	7.3965	0.26939	0.0:0.2139:0.574:0.2121	.	154	Q7RTR0	NALP9_HUMAN	N	154	ENSP00000331857:D154N	ENSP00000331857:D154N	D	-	1	0	NLRP9	60936549	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.209000	0.09358	-1.401000	0.02058	-0.178000	0.13098	GAT	.	.	none		0.408	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56244737	C	T	56244737	3	4	17	1	0	0	0	0	1	0	0	0	10484	826	29	2	2547	2	NLRP9	19	56244737	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	650831	56244737	2884246	144	4392										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	214	29	0.135514	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	17	1	0	0	0	0	1	0	0	0	18173	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	2141053	58385790	743193	145	4393	80	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	203	28	0.137931	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	17	1	0	0	0	0	1	0	0	0	18173	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	3	58385793	743190	146	4394	80	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						PASS	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	190	29	0.152632	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	17	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	5	58385798	743185	147	4395	80	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						scavenged	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	189	29	0.153439	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	17	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1	58385799	743184	148	4396	80	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385869	58385869	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tttcccacattctccacattCatgttttttttcagtgtgaa	4	10	3	1	rs199684163|rs10687775|rs55789144|rs66767659	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr19:58385869C>A	ENST00000435989.2	-	3	1123	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTT	0.363																																					p.E297X		Atlas-SNP	.											ZNF814,NS,carcinoma,0,1	ZNF814	93	1	0			c.G889T						scavenged	.						5	4	5					19																	58385869		591	1308	1899	SO:0001587	stop_gained	730051	exon3			CACATTCATGTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.889G>T	19.37:g.58385869C>A	ENSP00000410545:p.Glu297*	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	92	25	0.271739	NM_001144989	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839119	0.91117	.	.	ENSG00000204514	ENST00000435989	.	.	.	1.93	-3.87	0.04218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6944	0.00896	0.1754:0.2303:0.1739:0.4204	.	.	.	.	X	297	.	ENSP00000410545:E297X	E	-	1	0	ZNF814	63077681	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-0.792000	0.04594	-0.856000	0.04120	0.121000	0.15741	GAA	.	.	weak		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385869	C	A	58385869	4	1	17	1	0	0	0	0	0	1	0	0	18173	835	29	4	1682	4	ZNF814	19	58385869	Nonsense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	70	58385869	743114	149	4397										
PLCB1	23236	hgsc.bcm.edu	37	chr20	8130945	8130945	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cttcttacatttctaggactCaactattgttactccaatta	3	10	3	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr20:8130945C>A	ENST00000338037.6	+	2	131	c.104C>A	c.(103-105)tCa>tAa	p.S35*	PLCB1_ENST00000378641.3_Nonsense_Mutation_p.S35*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.S35*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	35					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCTAGGACTCAACTATTGTT	0.328																																					p.V35D		Atlas-SNP	.											.	PLCB1	394	.	0			c.T104A						PASS	.						73	71	72					20																	8130945		2203	4291	6494	SO:0001587	stop_gained	23236	exon2			AGGACTCAACTAT	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.104C>A	20.37:g.8130945C>A	ENSP00000338185:p.Ser35*	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	263	61	0.231939	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	42	9.746884	0.99253	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	.	.	.	5.76	5.76	0.90799	.	0.148595	0.45126	D	0.000393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;35;34	.	ENSP00000338185:S35X	S	+	2	0	PLCB1	8078945	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.576000	0.67437	2.715000	0.92844	0.561000	0.74099	TCA	.	.	none		0.328	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			A	8130945	C	A	8130945	4	1	17	1	0	0	0	0	0	1	0	0	12027	838	29	4	110	4	PLCB1	20	8130945	Nonsense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		8130945	54894575	150	4398										
FOXA2	3170	hgsc.bcm.edu	37	chr20	22562836	22562836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	aggtgggccgcggcctgctgCtgctgcccgggagagggcgc	20	13	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr20:22562836C>T	ENST00000377115.4	-	3	1207	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	FOXA2_ENST00000419308.2_Silent_p.Q348Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	342					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CGGCCTGCTGCTGCTGCCCGG	0.756																																					p.Q348Q		Atlas-SNP	.											.	FOXA2	48	.	0			c.G1044A						PASS	.						14	12	13					20																	22562836		1999	3801	5800	SO:0001819	synonymous_variant	3170	exon2			CTGCTGCTGCTGC	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1026G>A	20.37:g.22562836C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	74	20	0.27027	NM_021784	Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	CCDS13147.1																																																																																			.	.	none		0.756	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			T	22562836	C	T	22562836	2	4	17	1	0	0	0	0	0	0	0	1	5990	796	28	2		2	FOXA2	20	22562836	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	14431891	22562836	40462684	151	4399										
PHF20	51230	hgsc.bcm.edu	37	chr20	34458897	34458897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccaggaaaagtcaaaaaacTactcggaaaacactgacaaa	6	10	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr20:34458897T>G	ENST00000374012.3	+	8	1072	c.943T>G	c.(943-945)Tac>Gac	p.Y315D	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	315					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTCAAAAAACTACTCGGAAAA	0.428																																					p.Y315D		Atlas-SNP	.											.	PHF20	94	.	0			c.T943G						PASS	.						82	77	79					20																	34458897		2203	4300	6503	SO:0001583	missense	51230	exon8			AAAAACTACTCGG	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.943T>G	20.37:g.34458897T>G	ENSP00000363124:p.Tyr315Asp	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	67	20	0.298507	NM_016436	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524349	0.27299	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.43294	1.55;0.95;0.95	5.11	2.67	0.31697	.	0.743446	0.13065	N	0.416564	T	0.25005	0.0607	N	0.22421	0.69	0.21841	N	0.999515	B;B	0.28128	0.037;0.201	B;B	0.25759	0.014;0.063	T	0.13953	-1.0490	10	0.33141	T	0.24	.	5.4595	0.16610	0.0:0.093:0.1751:0.7319	.	315;315	Q9BVI0;Q66K49	PHF20_HUMAN;.	D	315	ENSP00000363124:Y315D;ENSP00000341900:Y315D;ENSP00000363112:Y315D	ENSP00000341900:Y315D	Y	+	1	0	PHF20	33922311	0.030000	0.19436	0.314000	0.25224	0.996000	0.88848	1.520000	0.35899	0.905000	0.36596	0.482000	0.46254	TAC	.	.	none		0.428	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		G	34458897	T	G	34458897	3	3	17	1	0	0	0	0	1	0	0	0	11831	1522	53	5	969	5	PHF20	20	34458897	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	11896061	34458897	28566623	152	4400										
ADAMTS1	9510	hgsc.bcm.edu	37	chr21	28214839	28214839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccaccaggctaactgaattaCgaatgctggggtgtttgtac	11	9	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr21:28214839C>A	ENST00000284984.3	-	2	1350	c.896G>T	c.(895-897)cGt>cTt	p.R299L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	299	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AACTGAATTACGAATGCTGGG	0.517																																					p.R299L		Atlas-SNP	.											.	ADAMTS1	131	.	0			c.G896T						PASS	.						101	84	89					21																	28214839		2203	4300	6503	SO:0001583	missense	9510	exon2			GAATTACGAATGC	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.896G>T	21.37:g.28214839C>A	ENSP00000284984:p.Arg299Leu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	139	40	0.28777	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.928654|2.928654	0.52759|0.52759	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452|ENST00000451462	T;T;T|.	0.63580|.	-0.05;-0.05;-0.05|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);|.	.|.	.|.	.|.	.|.	T|T	0.50326|0.50326	0.1609|0.1609	N|N	0.12611|0.12611	0.24|0.24	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.19817|.	0.039|.	B|.	0.16289|.	0.015|.	T|T	0.42916|0.42916	-0.9423|-0.9423	9|5	0.40728|.	T|.	0.16|.	.|.	19.4587|19.4587	0.94906|0.94906	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299|.	Q9UHI8|.	ATS1_HUMAN|.	L|L	299;37;61|81	ENSP00000284984:R299L;ENSP00000429557:R37L;ENSP00000431065:R61L|.	ENSP00000284984:R299L|.	R|V	-|-	2|1	0|0	ADAMTS1|ADAMTS1	27136710|27136710	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	5.510000|5.510000	0.67018|0.67018	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CGT|GTA	.	.	none		0.517	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			A	28214839	C	A	28214839	3	1	17	1	0	0	0	0	1	0	0	0	255	536	19	4	2039	4	ADAMTS1	21	28214839	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		28214839	19915056	153	4401										
POTEH	23784	hgsc.bcm.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																					p.W71C		Atlas-SNP	.											POTEH,NS,carcinoma,0,4	POTEH	114	4	1	Substitution - Missense(1)	NS(1)	c.G213C						scavenged	.						110	126	120					22																	16287673		2105	3940	6045	SO:0001583	missense	23784	exon1			CCTGCACCAGGGG	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys	Somatic	559	1	0.00178891		WXS	Illumina HiSeq	Phase_I	511	6	0.0117417	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG	.	.	none		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		G	16287673	C	G	16287673	3	3	17	1	0	0	0	0	1	0	0	0	12267	508	18	4	1464	4	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10		16287673	35016893	154	4402										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230278	23230278	+	Silent	SNP	G	G	A													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ggttgtgagacccctgaggaGctgggccctggtcccaggca					rs544778929	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:23230278G>A	ENST00000526893.1	+	1	319	c.45G>A	c.(43-45)gaG>gaA	p.E15E	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Silent_p.E15E|IGLL5_ENST00000531372.1_Silent_p.E15E	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	15						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCCTGAGGAGCTGGGCCCTG	0.672													G|||	6	0.00119808	0.0023	0.0029	5008	,	,		13267	0.0		0.0	False		,,,				2504	0.001				p.E15E		Atlas-SNP	.											IGLL5,NS,lymphoid_neoplasm,0,1	IGLL5	26	1	0			c.G45A						scavenged	.																																			SO:0001819	synonymous_variant	100423062	exon1			TGAGGAGCTGGGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.45G>A	22.37:g.23230278G>A		Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	103	35	0.339806	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230278	G	A	23230278	2	1	17	1	0	0	0	0	0	0	0	1	7594	962	34	2		2	IGLL5	22	23230278	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	6942605	23230278	28074288	155	4403	81	2								
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230279	23230279	+	Silent	SNP	C	C	T													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gttgtgagacccctgaggagCtgggccctggtcccaggcag					rs564743210	byFrequency	TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:23230279C>T	ENST00000526893.1	+	1	320	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Silent_p.L16L|IGLL5_ENST00000531372.1_Silent_p.L16L	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	16						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCTGAGGAGCTGGGCCCTGG	0.667													C|||	3	0.000599042	0.0023	0.0	5008	,	,		13145	0.0		0.0	False		,,,				2504	0.0				p.L16L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C46T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GAGGAGCTGGGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.46C>T	22.37:g.23230279C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	102	34	0.333333	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230279	C	T	23230279	2	4	17	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230279	Silent	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	1	23230279	28074287	156	4404	81	2								
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23235883	23235884	+	Frame_Shift_Del	DEL	CC	CC	-													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cccgtcatgcccagcaggctCctgctccagcccagccccca							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:23235883_23235884delCC	ENST00000526893.1	+	2	484_485	c.210_211delCC	c.(208-213)ctcctgfs	p.LL70fs	IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Frame_Shift_Del_p.LL71fs|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	70						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAGCAGGCTCCTGCTCCAGCC	0.658																																					p.70_70del		Atlas-Indel	.											.	IGLL5	26	.	0			c.209_210del						PASS	.																																			SO:0001589	frameshift_variant	100423062	exon2			.	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.210_211delCC	22.37:g.23235883_23235884delCC	ENSP00000431254:p.Leu70fs	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	26	12	0.461538	NM_001178126		Frame_Shift_Del	DEL	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.658	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		-	23235884	CC	-	23235883	7	5	17	1	0	1	0	1	0	0	0	0	7594	842	30	0	216	0	IGLL5	22	23235883	Frame_Shift_Del	DEL	CC	TCGA-FF-A7CQ-01A-11D-A382-10	5604	23235883	28068683	157	4405	82	2								
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23235887	23235887	+	Missense_Mutation	SNP	C	C	G													0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	tcatgcccagcaggctcctgCtccagcccagcccccagaga							TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:23235887C>G	ENST00000526893.1	+	2	488	c.214C>G	c.(214-216)Ctc>Gtc	p.L72V	IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.L73V|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	72						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CAGGCTCCTGCTCCAGCCCAG	0.657																																					p.L72V		Atlas-SNP	.											.	IGLL5	26	.	0			c.C214G						PASS	.						39	43	42					22																	23235887		691	1590	2281	SO:0001583	missense	100423062	exon2			CTCCTGCTCCAGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.214C>G	22.37:g.23235887C>G	ENSP00000431254:p.Leu72Val	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895344	0.17613	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00571	6.5;6.5	2.5	-2.87	0.05700	.	.	.	.	.	T	0.00468	0.0015	L	0.50333	1.59	0.09310	N	1	B	0.28026	0.198	B	0.24541	0.054	T	0.39781	-0.9597	9	0.54805	T	0.06	.	3.482	0.07606	0.0:0.3311:0.3656:0.3033	.	72	B9A064	IGLL5_HUMAN	V	73;72	ENSP00000436353:L73V;ENSP00000431254:L72V	ENSP00000417505:L6V	L	+	1	0	IGLL5	21565887	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.207000	0.03008	-0.350000	0.08262	0.491000	0.48974	CTC	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		G	23235887	C	G	23235887	3	3	17	1	0	0	0	0	1	0	0	0	7594	797	28	4	220	4	IGLL5	22	23235887	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	4	23235887	28068679	158	4406	82	2								
GGT1	2678	hgsc.bcm.edu	37	chr22	25016462	25016462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	ccctggaaaacaagcggaccGtcatcgagcagcagcctgtc	11	14	1	0	rs28621555		TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:25016462G>A	ENST00000400382.1	+	8	1305	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	GGT1_ENST00000400383.1_Missense_Mutation_p.V184I|GGT1_ENST00000248923.4_Missense_Mutation_p.V184I|GGT1_ENST00000406383.2_Missense_Mutation_p.V184I|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.V184I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	184					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V184I(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAAGCGGACCGTCATCGAGCA	0.677																																					p.V184I		Atlas-SNP	.											GGT1,trunk,malignant_melanoma,0,1	GGT1	68	1	1	Substitution - Missense(1)	skin(1)	c.G550A						scavenged	.						22	25	24					22																	25016462		1896	4080	5976	SO:0001583	missense	2678	exon8			CGGACCGTCATCG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.550G>A	22.37:g.25016462G>A	ENSP00000383232:p.Val184Ile	Somatic	325	5	0.0153846		WXS	Illumina HiSeq	Phase_I	304	13	0.0427632	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	6.106	0.387793	0.11581	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3	3.35	-1.41	0.08941	.	1.035820	0.07685	N	0.937758	T	0.03263	0.0095	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.48636	-0.9018	10	0.18276	T	0.48	-41.0107	5.2692	0.15615	0.4418:0.0:0.4215:0.1367	.	184	P19440	GGT1_HUMAN	I	184	ENSP00000248923:V184I;ENSP00000393537:V184I;ENSP00000383232:V184I;ENSP00000383233:V184I;ENSP00000383231:V184I;ENSP00000385975:V184I	ENSP00000248923:V184I	V	+	1	0	GGT1	23346462	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.112000	0.03299	-0.232000	0.09811	0.455000	0.32223	GTC	.	.	weak		0.677	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25016462	G	A	25016462	3	1	17	1	0	0	0	0	1	0	0	0	6361	1145	40	1	564	1	GGT1	22	25016462	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	1780575	25016462	26288104	159	4407										
CRYBB3	1417	hgsc.bcm.edu	37	chr22	25603042	25603042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	gctatgagttccccggctacCgtgggcgccagtacgtgttt	13	12	0	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:25603042C>T	ENST00000215855.2	+	6	579	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	167	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						CCCCGGCTACCGTGGGCGCCA	0.642																																					p.P167S		Atlas-SNP	.											.	CRYBB3	13	.	0			c.C499T						PASS	.						64	57	59					22																	25603042		2201	4299	6500	SO:0001583	missense	1417	exon6			GGCTACCGTGGGC		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.499C>T	22.37:g.25603042C>T	ENSP00000215855:p.Arg167Cys	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	73	17	0.232877	NM_004076	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987958	0.74589	.	.	ENSG00000100053	ENST00000215855	T	0.78707	-1.2	4.87	4.87	0.63330	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.86091	0.5850	M	0.81112	2.525	0.80722	D	1	D	0.62365	0.991	P	0.61940	0.896	D	0.87862	0.2665	10	0.87932	D	0	.	11.7789	0.52001	0.1759:0.8241:0.0:0.0	.	167	P26998	CRBB3_HUMAN	C	167	ENSP00000215855:R167C	ENSP00000215855:R167C	R	+	1	0	CRYBB3	23933042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.684000	0.37649	2.223000	0.72356	0.561000	0.74099	CGT	.	.	none		0.642	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		T	25603042	C	T	25603042	3	4	17	1	0	0	0	0	1	0	0	0	3912	652	23	1	517	1	CRYBB3	22	25603042	Missense_Mutation	SNP	C	TCGA-FF-A7CQ-01A-11D-A382-10	586580	25603042	25701524	160	4408										
GAL3ST1	9514	hgsc.bcm.edu	37	chr22	30951371	30951371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cggcacgggcgagtcgcggcGggcgttgagcttgaagtaga	19	9	0	3			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:30951371G>A	ENST00000402321.1	-	3	1158	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R281C|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R281C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R281C|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R281C|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R281C|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R281C			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	281				RR -> LN (in Ref. 1; AA sequence). {ECO:0000305}.	galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGTCGCGGCGGGCGTTGAGC	0.652																																					p.R281C		Atlas-SNP	.											.	GAL3ST1	44	.	0			c.C841T						PASS	.						39	44	42					22																	30951371		2203	4300	6503	SO:0001583	missense	9514	exon4			CGCGGCGGGCGTT	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.841C>T	22.37:g.30951371G>A	ENSP00000385735:p.Arg281Cys	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	31	10	0.322581	NM_004861	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200716	0.79015	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71464	-0.4585	10	0.87932	D	0	-8.8903	18.6705	0.91508	0.0:0.0:1.0:0.0	.	281	Q99999	G3ST1_HUMAN	C	281	ENSP00000385825:R281C;ENSP00000385735:R281C;ENSP00000384122:R281C;ENSP00000384388:R281C;ENSP00000343234:R281C;ENSP00000385207:R281C;ENSP00000402587:R281C	ENSP00000343234:R281C	R	-	1	0	GAL3ST1	29281371	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	4.470000	0.60175	2.523000	0.85059	0.561000	0.74099	CGC	.	.	none		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		A	30951371	G	A	30951371	3	1	17	1	0	0	0	0	1	0	0	0	6197	1116	39	1	434	1	GAL3ST1	22	30951371	Missense_Mutation	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10	5348329	30951371	20353195	161	4409										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50720155	50720155	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cctcctgcagcgtcatcgccTtgttcagattggtgccctgg	11	14	2	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chr22:50720155T>A	ENST00000449103.1	-	21	3502	c.3362A>T	c.(3361-3363)aAg>aTg	p.K1121M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.K1121M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1121					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCATCGCCTTGTTCAGATT	0.672																																					p.K1121M		Atlas-SNP	.											.	PLXNB2	172	.	0			c.A3362T						PASS	.						21	25	24					22																	50720155		2147	4255	6402	SO:0001583	missense	23654	exon21			ATCGCCTTGTTCA		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3362A>T	22.37:g.50720155T>A	ENSP00000409171:p.Lys1121Met	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	53	14	0.264151	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.16|14.16	2.453769|2.453769	0.43531|0.43531	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000427829	T;T|.	0.03553|.	3.89;3.89|.	4.47|4.47	4.47|4.47	0.54385|0.54385	Immunoglobulin-like fold (1);|.	0.530450|.	0.16890|.	N|.	0.195334|.	T|T	0.53449|0.53449	0.1797|0.1797	L|L	0.38838|0.38838	1.175|1.175	0.38197|0.38197	D|D	0.940066|0.940066	P|.	0.38473|.	0.633|.	B|.	0.34489|.	0.184|.	T|T	0.54899|0.54899	-0.8224|-0.8224	10|5	0.34782|.	T|.	0.22|.	.|.	10.1523|10.1523	0.42801|0.42801	0.0:0.0:0.1676:0.8324|0.0:0.0:0.1676:0.8324	.|.	1121|.	O15031|.	PLXB2_HUMAN|.	M|W	1121|139	ENSP00000409171:K1121M;ENSP00000352288:K1121M|.	ENSP00000352288:K1121M|.	K|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49062282|49062282	0.800000|0.800000	0.28916|0.28916	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	0.495000|0.495000	0.22483|0.22483	1.882000|1.882000	0.54519|0.54519	0.402000|0.402000	0.26972|0.26972	AAG|AGG	.	.	none		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50720155	T	A	50720155	3	1	17	1	0	0	0	0	1	0	0	0	12124	1609	56	5	2222	5	PLXNB2	22	50720155	Missense_Mutation	SNP	T	TCGA-FF-A7CQ-01A-11D-A382-10	19768784	50720155	584411	162	4410										
FAM47C	442444	hgsc.bcm.edu	37	chrX	37028925	37028925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.065359477124183	10	1	0.948191593352884	2.03496503496504	0.771590909090909	0.213756898640463	0.486890713569943	0	cgggtgtccagtctctgcccGgagcctaccaagaccggagc	13	15	1	1			TCGA-FF-A7CQ-01A-11D-A382-10	TCGA-FF-A7CQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2e4fe50f-0ee6-46c2-9795-2e2c1c8a86bf	5f7ab27c-4bb5-430c-a173-433d42f767d5	g.chrX:37028925G>A	ENST00000358047.3	+	1	2494	c.2442G>A	c.(2440-2442)ccG>ccA	p.P814P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	814										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCTCTGCCCGGAGCCTACCA	0.557																																					p.P814P		Atlas-SNP	.											.	FAM47C	267	.	0			c.G2442A						PASS	.						51	52	51					X																	37028925		2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			CTGCCCGGAGCCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2442G>A	X.37:g.37028925G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001013736	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																			.	.	none		0.557	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028925	G	A	37028925	2	1	17	1	0	0	0	0	0	0	0	1	5571	1103	39	1		1	FAM47C	23	37028925	Silent	SNP	G	TCGA-FF-A7CQ-01A-11D-A382-10		37028925	118241635	163	4411										
ANGPTL7	10218	hgsc.bcm.edu	37	chr1	11253778	11253778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gggacttctggctggggaacGaacacatccaccggctctcc	12	14	2	0	rs376924013		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:11253778G>A	ENST00000376819.3	+	3	858	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	207	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCTGGGGAACGAACACATCCA	0.597																																					p.E207K		Atlas-SNP	.											.	ANGPTL7	23	.	0			c.G619A						PASS	.	G	,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	84	76	79		,619	5.8	0.7	1		79	0,8600		0,0,4300	no	intron,missense	MTOR,ANGPTL7	NM_004958.3,NM_021146.2	,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,207/347	11253778	1,13005	2203	4300	6503	SO:0001583	missense	10218	exon3			GGGAACGAACACA	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.619G>A	1.37:g.11253778G>A	ENSP00000366015:p.Glu207Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	55	7	0.127273	NM_021146	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130708	0.94473	2.27E-4	0.0	ENSG00000171819	ENST00000376819	D	0.84660	-1.88	5.81	5.81	0.92471	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.089808	0.85682	D	0.000000	D	0.86301	0.5900	M	0.77103	2.36	0.80722	D	1	P	0.46656	0.882	B	0.39465	0.3	D	0.87083	0.2167	10	0.46703	T	0.11	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	207	O43827	ANGL7_HUMAN	K	207	ENSP00000366015:E207K	ENSP00000366015:E207K	E	+	1	0	ANGPTL7	11176365	1.000000	0.71417	0.698000	0.30274	0.938000	0.57974	8.031000	0.88826	2.756000	0.94617	0.655000	0.94253	GAA	.	.	none		0.597	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		A	11253778	G	A	11253778	3	1	18	1	0	0	0	0	1	0	0	0	619	1059	37	1	629	1	ANGPTL7	1	11253778	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		11253778	237996843	1	4412										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854356	12854356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	attatctaacgccgattaaaTatctcagaaagtcattgaaa	5	7	3	2	rs61775051		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:12854356T>C	ENST00000332296.7	+	3	683	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	194					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGATTAAATATCTCAGAAA	0.403																																					p.Y194H		Atlas-SNP	.											PRAMEF1,NS,carcinoma,-2,2	PRAMEF1	78	2	0			c.T580C						scavenged	.						217	230	226					1																	12854356		2202	4300	6502	SO:0001583	missense	65121	exon3			ATTAAATATCTCA	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.580T>C	1.37:g.12854356T>C	ENSP00000332134:p.Tyr194His	Somatic	439	26	0.0592255		WXS	Illumina HiSeq	Phase_I	478	33	0.0690377	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.661	0.122825	0.08931	.	.	ENSG00000116721	ENST00000332296	T	0.14516	2.5	1.74	0.543	0.17179	.	1.116300	0.06718	N	0.774313	T	0.08537	0.0212	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.39461	-0.9613	10	0.39692	T	0.17	.	3.7512	0.08568	0.6501:0.0:0.0:0.3499	rs61775051	194	O95521	PRAM1_HUMAN	H	194	ENSP00000332134:Y194H	ENSP00000332134:Y194H	Y	+	1	0	PRAMEF1	12776943	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.383000	0.20651	0.121000	0.18284	-0.731000	0.03576	TAT	T|0.500;C|0.500	0.500	strong		0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		C	12854356	T	C	12854356	3	2	18	1	0	0	0	0	1	0	0	0	12425	1406	49	2	586	2	PRAMEF1	1	12854356	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	1600578	12854356	236396265	2	4413										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854479	12854479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgaaggagatgaagaatcttCgcaaactcgttttctccagg	10	8	2	4	rs1063775	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:12854479C>G	ENST00000332296.7	+	3	806	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	235					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAATCTTCGCAAACTCGT	0.438													c|||	502	0.10024	0.115	0.0519	5008	,	,		29731	0.0685		0.0785	False		,,,				2504	0.1697				p.R235G		Atlas-SNP	.											PRAMEF1,NS,carcinoma,-1,2	PRAMEF1	78	2	0			c.C703G						scavenged	.						158	163	161					1																	12854479		2203	4300	6503	SO:0001583	missense	65121	exon3			AATCTTCGCAAAC	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.703C>G	1.37:g.12854479C>G	ENSP00000332134:p.Arg235Gly	Somatic	364	15	0.0412088		WXS	Illumina HiSeq	Phase_I	374	17	0.0454545	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	6.921	0.539576	0.13250	.	.	ENSG00000116721	ENST00000332296	T	0.21543	2.0	1.61	1.61	0.23674	.	2.269980	0.01911	N	0.039880	T	0.27594	0.0678	M	0.74467	2.265	0.09310	N	0.999992	B	0.09022	0.002	B	0.06405	0.002	T	0.26916	-1.0089	10	0.39692	T	0.17	.	6.6557	0.22986	0.0:1.0:0.0:0.0	.	235	O95521	PRAM1_HUMAN	G	235	ENSP00000332134:R235G	ENSP00000332134:R235G	R	+	1	0	PRAMEF1	12777066	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.124000	0.10595	1.196000	0.43129	0.436000	0.28706	CGC	C|0.811;G|0.187;T|0.002	0.187	strong		0.438	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		G	12854479	C	G	12854479	3	3	18	1	0	0	0	0	1	0	0	0	12425	884	31	4	709	4	PRAMEF1	1	12854479	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	123	12854479	236396142	3	4414										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921277	12921277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctctcgagaccctcgtgttAgagggctgtcagatccacta	10	12	2	3	rs3204826	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:12921277A>G	ENST00000240189.2	+	4	1155	c.1068A>G	c.(1066-1068)ttA>ttG	p.L356L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	356					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L356F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTGTTAGAGGGCTGTC	0.542													.|||	93	0.0185703	0.0091	0.0115	5008	,	,		23369	0.0437		0.008	False		,,,				2504	0.0215				p.L356L		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	prostate(1)	c.A1068G						scavenged	.						161	158	159					1																	12921277		2201	4291	6492	SO:0001819	synonymous_variant	65122	exon4			CGTGTTAGAGGGC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1068A>G	1.37:g.12921277A>G		Somatic	283	4	0.0141343		WXS	Illumina HiSeq	Phase_I	287	8	0.0278746	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			A|0.996;G|0.004	0.004	strong		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921277	A	G	12921277	2	3	18	1	0	0	0	0	0	0	0	1	12435	417	15	3		3	PRAMEF2	1	12921277	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	66798	12921277	236329344	4	4415										
PLEKHM2	23207	hgsc.bcm.edu	37	chr1	16054583	16054583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggccctcacagagtagacaaCaatcacctgctcctgctcat	7	15	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:16054583C>T	ENST00000375799.3	+	10	1997	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	PLEKHM2_ENST00000375793.2_Silent_p.N570N|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	590					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGTAGACAACAATCACCTGC	0.577																																					p.N590N		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.C1770T						PASS	.						60	63	62					1																	16054583		2179	4272	6451	SO:0001819	synonymous_variant	23207	exon10			AGACAACAATCAC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1770C>T	1.37:g.16054583C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	164	32	0.195122	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																			.	.	none		0.577	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		T	16054583	C	T	16054583	2	4	18	1	0	0	0	0	0	0	0	1	12081	477	17	2		2	PLEKHM2	1	16054583	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	3133306	16054583	233196038	5	4416										
UBR4	23352	hgsc.bcm.edu	37	chr1	19494536	19494536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttacacaataagatctccaGtcaacctgaccagtgagagg	8	11	2	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:19494536G>A	ENST00000375254.3	-	28	3911	c.3884C>T	c.(3883-3885)aCt>aTt	p.T1295I	UBR4_ENST00000375226.2_Missense_Mutation_p.T1295I|UBR4_ENST00000375267.2_Missense_Mutation_p.T1295I|UBR4_ENST00000375217.2_Missense_Mutation_p.T1295I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1295					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGATCTCCAGTCAACCTGAC	0.483																																					p.T1295I		Atlas-SNP	.											.	UBR4	415	.	0			c.C3884T						PASS	.						123	121	122					1																	19494536		2203	4300	6503	SO:0001583	missense	23352	exon28			TCTCCAGTCAACC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3884C>T	1.37:g.19494536G>A	ENSP00000364403:p.Thr1295Ile	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	70	18	0.257143	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153495	0.57259	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	N	0.11927	0.2	0.80722	D	1	P	0.42039	0.769	B	0.41299	0.353	T	0.36986	-0.9725	10	0.09843	T	0.71	.	15.8923	0.79309	0.0:0.0:0.8634:0.1366	.	1295	Q5T4S7	UBR4_HUMAN	I	1295;1295;1295;1295;5;511	ENSP00000364403:T1295I;ENSP00000364416:T1295I;ENSP00000364365:T1295I;ENSP00000364374:T1295I	ENSP00000364365:T1295I	T	-	2	0	UBR4	19367123	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.633000	0.83260	1.434000	0.47414	0.655000	0.94253	ACT	.	.	none		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19494536	G	A	19494536	3	1	18	1	0	0	0	0	1	0	0	0	16901	1029	36	2	11983	2	UBR4	1	19494536	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3439953	19494536	229756085	6	4417										
SRRM1	10250	hgsc.bcm.edu	37	chr1	24996752	24996752	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccgtctacaaactggtcaccAgctgtaccggtcaaaaaggc	9	13	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:24996752A>T	ENST00000323848.9	+	15	2661	c.2346A>T	c.(2344-2346)ccA>ccT	p.P782P	SRRM1_ENST00000447431.2_Silent_p.P794P|SRRM1_ENST00000374389.4_Silent_p.P791P|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	782	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACTGGTCACCAGCTGTACCGG	0.527																																					p.P782P	Ovarian(68;897 1494 3282 17478)	Atlas-SNP	.											.	SRRM1	81	.	0			c.A2346T						PASS	.						104	100	101					1																	24996752		2203	4300	6503	SO:0001819	synonymous_variant	10250	exon15			GTCACCAGCTGTA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2346A>T	1.37:g.24996752A>T		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	202	57	0.282178	NM_005839	O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																			.	.	none		0.527	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		T	24996752	A	T	24996752	2	4	18	1	0	0	0	0	0	0	0	1	15167	175	7	5		5	SRRM1	1	24996752	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	5502216	24996752	224253869	7	4418										
EIF2B3	8891	hgsc.bcm.edu	37	chr1	45341356	45341356	+	Missense_Mutation	SNP	C	C	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctggacagagagcagacagCaatttgggcaccttaaggac							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:45341356C>A	ENST00000360403.2	-	9	1113	c.987G>T	c.(985-987)ttG>ttT	p.L329F	EIF2B3_ENST00000372183.3_Missense_Mutation_p.L329F	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	329					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGCAGACAGCAATTTGGGCA	0.522																																					p.L329F	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.G987T						PASS	.						151	137	142					1																	45341356		2203	4300	6503	SO:0001583	missense	8891	exon9			AGACAGCAATTTG	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.987G>T	1.37:g.45341356C>A	ENSP00000353575:p.Leu329Phe	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	125	8	0.064	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.69|16.69	3.192156|3.192156	0.58017|0.58017	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000439363|ENST00000360403;ENST00000372183	.|T;D	.|0.94232	.|0.51;-3.38	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91181|0.91181	0.7222|0.7222	M|M	0.65975|0.65975	2.015|2.015	0.53688|0.53688	D|D	0.999975|0.999975	.|B;P	.|0.36712	.|0.171;0.566	.|B;B	.|0.40901	.|0.124;0.343	D|D	0.86913|0.86913	0.2062|0.2062	5|10	.|0.10377	.|T	.|0.69	-1.4932|-1.4932	9.8482|9.8482	0.41039|0.41039	0.0:0.8458:0.0:0.1542|0.0:0.8458:0.0:0.1542	.|.	.|329;329	.|Q9NR50-2;Q9NR50	.|.;EI2BG_HUMAN	F|F	150|329	.|ENSP00000353575:L329F;ENSP00000361257:L329F	.|ENSP00000353575:L329F	C|L	-|-	2|3	0|2	EIF2B3|EIF2B3	45113943|45113943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.969000|1.969000	0.40510|0.40510	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	TGC|TTG	.	.	none		0.522	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		A	45341356	C	A	45341356	3	1	18	1	0	0	0	0	1	0	0	0	5002	709	25	4	424	4	EIF2B3	1	45341356	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	20344604	45341356	203909265	8	4419	83	2								
EIF2B3	8891	hgsc.bcm.edu	37	chr1	45341357	45341357	+	Missense_Mutation	SNP	A	A	G													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctggacagagagcagacagcAatttgggcaccttaaggaca							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:45341357A>G	ENST00000360403.2	-	9	1112	c.986T>C	c.(985-987)tTg>tCg	p.L329S	EIF2B3_ENST00000372183.3_Missense_Mutation_p.L329S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	329					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGACAGCAATTTGGGCAC	0.527																																					p.L329S	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.T986C						PASS	.						148	136	140					1																	45341357		2203	4300	6503	SO:0001583	missense	8891	exon9			GACAGCAATTTGG	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.986T>C	1.37:g.45341357A>G	ENSP00000353575:p.Leu329Ser	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	125	7	0.056	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.19|15.19	2.758999|2.758999	0.49468|0.49468	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000439363|ENST00000360403;ENST00000372183	.|T;D	.|0.94138	.|0.54;-3.36	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92583|0.92583	0.7644|0.7644	M|M	0.77103|0.77103	2.36|2.36	0.54753|0.54753	D|D	0.999987|0.999987	.|B;B	.|0.27192	.|0.171;0.006	.|B;B	.|0.34991	.|0.193;0.017	D|D	0.88823|0.88823	0.3300|0.3300	5|10	.|0.06365	.|T	.|0.9	-1.4932|-1.4932	15.0974|15.0974	0.72247|0.72247	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|329;329	.|Q9NR50-2;Q9NR50	.|.;EI2BG_HUMAN	R|S	150|329	.|ENSP00000353575:L329S;ENSP00000361257:L329S	.|ENSP00000353575:L329S	C|L	-|-	1|2	0|0	EIF2B3|EIF2B3	45113944|45113944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.176000|6.176000	0.71955|0.71955	2.045000|2.045000	0.60652|0.60652	0.533000|0.533000	0.62120|0.62120	TGC|TTG	.	.	none		0.527	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		G	45341357	A	G	45341357	3	3	18	1	0	0	0	0	1	0	0	0	5002	131	5	2	425	2	EIF2B3	1	45341357	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1	45341357	203909264	9	4420	83	2								
BEND5	79656	hgsc.bcm.edu	37	chr1	49208438	49208438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tactttttccagatcaatggCgggacctaggcagttaagaa	10	8	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:49208438C>T	ENST00000371833.3	-	4	837	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	251						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						AGATCAATGGCGGGACCTAGG	0.443																																					p.A251T		Atlas-SNP	.											.	BEND5	93	.	0			c.G751A						PASS	.						61	62	61					1																	49208438		2203	4300	6503	SO:0001583	missense	79656	exon4			CAATGGCGGGACC	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.751G>A	1.37:g.49208438C>T	ENSP00000360899:p.Ala251Thr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	98	7	0.0714286	NM_024603	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817313	0.50633	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.45	5.45	0.79879	.	0.297443	0.39544	N	0.001321	T	0.36138	0.0956	N	0.12182	0.205	0.42004	D	0.990908	B	0.21147	0.052	B	0.08055	0.003	T	0.21586	-1.0241	8	.	.	.	-28.0768	11.8067	0.52158	0.0:0.9211:0.0:0.0789	.	251	Q7L4P6	BEND5_HUMAN	T	251	.	.	A	-	1	0	BEND5	48981025	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.067000	0.57527	2.838000	0.97847	0.591000	0.81541	GCC	.	.	none		0.443	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		T	49208438	C	T	49208438	3	4	18	1	0	0	0	0	1	0	0	0	1401	768	27	1	526	1	BEND5	1	49208438	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	3867081	49208438	200042183	10	4421										
FAF1	11124	hgsc.bcm.edu	37	chr1	51121170	51121170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	taattggtggcgaacggggaTacttgtaaggtcatacacat	12	6	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:51121170T>A	ENST00000396153.2	-	8	1139	c.688A>T	c.(688-690)Atc>Ttc	p.I230F	FAF1_ENST00000371778.4_Missense_Mutation_p.I230F	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	230					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?(1)		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)		CGAACGGGGATACTTGTAAGG	0.368																																					p.I230F		Atlas-SNP	.											.	FAF1	64	.	1	Whole gene deletion(1)	thyroid(1)	c.A688T						PASS	.						125	118	121					1																	51121170		2203	4300	6503	SO:0001583	missense	11124	exon8			CGGGGATACTTGT	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.688A>T	1.37:g.51121170T>A	ENSP00000379457:p.Ile230Phe	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	83	20	0.240964	NM_007051	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901931	0.92035	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	T;T	0.33216	1.42;1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61103	-0.7130	10	0.87932	D	0	-11.8054	16.8222	0.85835	0.0:0.0:0.0:1.0	.	230	Q9UNN5	FAF1_HUMAN	F	230	ENSP00000379457:I230F;ENSP00000360843:I230F	ENSP00000360843:I230F	I	-	1	0	FAF1	50893758	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.615000	0.74201	2.371000	0.80710	0.533000	0.62120	ATC	.	.	none		0.368	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		A	51121170	T	A	51121170	3	1	18	1	0	0	0	0	1	0	0	0	5369	1406	49	5	1312	5	FAF1	1	51121170	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	1912732	51121170	198129451	11	4422										
ATG4C	84938	hgsc.bcm.edu	37	chr1	63282305	63282305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tagaggatcacgtaattgcaGgaaatgtagaagaatttcgt	11	4	1	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:63282305G>A	ENST00000317868.4	+	4	427	c.220G>A	c.(220-222)Gga>Aga	p.G74R	ATG4C_ENST00000371120.3_Missense_Mutation_p.G74R	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	74					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CGTAATTGCAGGAAATGTAGA	0.373																																					p.G74R		Atlas-SNP	.											ATG4C_ENST00000317868,NS,carcinoma,-1,4	ATG4C	96	4	0			c.G220A						PASS	.						74	73	74					1																	63282305		2203	4300	6503	SO:0001583	missense	84938	exon4			ATTGCAGGAAATG	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.220G>A	1.37:g.63282305G>A	ENSP00000322159:p.Gly74Arg	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	142	33	0.232394	NM_178221	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155852	0.57259	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	M	0.69248	2.105	0.80722	D	1	B	0.24092	0.097	B	0.30105	0.111	T	0.15983	-1.0418	10	0.42905	T	0.14	-25.7434	13.6326	0.62204	0.0745:0.0:0.9255:0.0	.	74	Q96DT6	ATG4C_HUMAN	R	74	ENSP00000322159:G74R;ENSP00000360161:G74R;ENSP00000396614:G74R;ENSP00000360159:G74R	ENSP00000322159:G74R	G	+	1	0	ATG4C	63054893	1.000000	0.71417	0.989000	0.46669	0.904000	0.53231	7.605000	0.82844	2.631000	0.89168	0.655000	0.94253	GGA	.	.	none		0.373	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		A	63282305	G	A	63282305	3	1	18	1	0	0	0	0	1	0	0	0	1098	1001	35	2	230	2	ATG4C	1	63282305	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	12161135	63282305	185968316	12	4423										
NEGR1	257194	hgsc.bcm.edu	37	chr1	72400774	72400774	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atacataccttgcacagttaGatgcacctgcattgttctgg	8	10	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:72400774G>T	ENST00000357731.5	-	2	636	c.397C>A	c.(397-399)Cta>Ata	p.L133I	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.L5I|NEGR1_ENST00000434200.1_Missense_Mutation_p.L131I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	133	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGCACAGTTAGATGCACCTGC	0.388																																					p.L133I		Atlas-SNP	.											.	NEGR1	60	.	0			c.C397A						PASS	.						100	90	94					1																	72400774		2203	4300	6503	SO:0001583	missense	257194	exon2			CAGTTAGATGCAC	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.397C>A	1.37:g.72400774G>T	ENSP00000350364:p.Leu133Ile	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	167	33	0.197605	NM_173808	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418704	0.62622	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.57436	0.4;1.15;0.4	5.71	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.59432	0.2193	M	0.73753	2.245	0.52099	D	0.999944	D;D	0.69078	0.995;0.997	D;D	0.67382	0.951;0.951	T	0.64462	-0.6402	10	0.59425	D	0.04	-6.5201	10.2474	0.43350	0.2176:0.0:0.7824:0.0	.	131;133	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	I	133;5;131	ENSP00000350364:L133I;ENSP00000305938:L5I;ENSP00000413294:L131I	ENSP00000305938:L5I	L	-	1	2	NEGR1	72173362	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.024000	0.30077	1.349000	0.45751	0.655000	0.94253	CTA	.	.	none		0.388	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		T	72400774	G	T	72400774	3	4	18	1	0	0	0	0	1	0	0	0	10317	933	33	4	691	4	NEGR1	1	72400774	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9118469	72400774	176849847	13	4424										
LPPR5	163404	hgsc.bcm.edu	37	chr1	99470000	99470000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cccgggcttaccacgagcacGgggaccccggcggccagcga	15	17	0	0	rs148163708	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:99470000G>A	ENST00000263177.4	-	1	449	c.228C>T	c.(226-228)ccC>ccT	p.P76P	LPPR5_ENST00000534652.1_5'UTR|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000370188.3_Silent_p.P76P	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		76						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CCACGAGCACGGGGACCCCGG	0.721																																					p.P76P		Atlas-SNP	.											.	.	.	.	0			c.C228T						PASS	.						12	14	14					1																	99470000		2197	4283	6480	SO:0001819	synonymous_variant	0	exon1			GAGCACGGGGACC																												ENST00000263177.4:c.228C>T	1.37:g.99470000G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	66	17	0.257576	NM_001037317	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	CCDS30778.1																																																																																			G|1.000;T|0.000	.	alt		0.721	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			A	99470000	G	A	99470000	2	1	18	1	0	0	0	0	0	0	0	1	8928	1103	39	1		1	LPPR5	1	99470000	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	27069226	99470000	149780621	14	4425										
AHCYL1	10768	hgsc.bcm.edu	37	chr1	110561015	110561015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaaataagaatgtagtgacaCgggagcacttggatcgcatg	13	6	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:110561015C>T	ENST00000369799.5	+	12	1511	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	AHCYL1_ENST00000359172.3_Missense_Mutation_p.R335W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.R335W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	382	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGTAGTGACACGGGAGCACTT	0.443																																					p.R382W		Atlas-SNP	.											.	AHCYL1	49	.	0			c.C1144T						PASS	.						87	75	79					1																	110561015		2203	4300	6503	SO:0001583	missense	10768	exon12			GTGACACGGGAGC	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1144C>T	1.37:g.110561015C>T	ENSP00000358814:p.Arg382Trp	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	139	32	0.230216	NM_006621	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070240	0.76301	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78126	-1.15;-1.13;-1.13	5.62	4.69	0.59074	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	M	0.93328	3.405	0.80722	D	1	D	0.65815	0.995	D	0.67900	0.954	D	0.90425	0.4420	10	0.56958	D	0.05	-15.4423	13.7117	0.62672	0.3369:0.6631:0.0:0.0	.	382	O43865	SAHH2_HUMAN	W	382;335;335	ENSP00000358814:R382W;ENSP00000352092:R335W;ENSP00000377238:R335W	ENSP00000352092:R335W	R	+	1	2	AHCYL1	110362538	0.997000	0.39634	0.982000	0.44146	0.998000	0.95712	3.533000	0.53561	1.328000	0.45358	0.655000	0.94253	CGG	.	.	none		0.443	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			T	110561015	C	T	110561015	3	4	18	1	0	0	0	0	1	0	0	0	410	527	19	1	1190	1	AHCYL1	1	110561015	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	11091015	110561015	138689606	15	4426										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120846059	120846059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtcttccttcctgcaacaacGgacacttctggatgtttcac	7	13	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:120846059G>A	ENST00000369390.3	+	3	1124	c.295G>A	c.(295-297)Gga>Aga	p.G99R	FAM72B_ENST00000355228.4_Missense_Mutation_p.G59R|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	99										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCAACAACGGACACTTCTG	0.388																																					p.G99R		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.G295A						scavenged	.						345	316	325					1																	120846059		1870	4114	5984	SO:0001583	missense	653820	exon3			AACAACGGACACT	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.295G>A	1.37:g.120846059G>A	ENSP00000358397:p.Gly99Arg	Somatic	789	4	0.00506971		WXS	Illumina HiSeq	Phase_I	808	9	0.0111386	NM_001100910	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	g	18.03	3.532588	0.64972	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.38401	1.14;1.14;1.14	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.36166	0.0957	M	0.83603	2.65	0.54753	D	0.999989	D;B	0.63880	0.993;0.295	P;B	0.49361	0.608;0.056	T	0.42548	-0.9445	10	0.54805	T	0.06	.	10.8119	0.46551	0.0:0.0:1.0:0.0	.	99;59	Q86X60;Q86X60-2	FA72B_HUMAN;.	R	70;99;70;59	ENSP00000358397:G99R;ENSP00000392882:G70R;ENSP00000347368:G59R	ENSP00000347368:G59R	G	+	1	0	FAM72B	120647582	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.236000	0.78154	1.431000	0.47355	0.398000	0.26397	GGA	.	.	weak		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			A	120846059	G	A	120846059	3	1	18	1	0	0	0	0	1	0	0	0	5615	1117	39	1	305	1	FAM72B	1	120846059	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	10285044	120846059	128404562	16	4427										
HIST2H2AC	8338	hgsc.bcm.edu	37	chr1	149858804	149858804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccatccgcaacgacgaggaaCtgaacaagctgctgggcaaa	11	12	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:149858804C>G	ENST00000331380.2	+	1	280	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	94						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGACGAGGAACTGAACAAGCT	0.592																																					p.L94V		Atlas-SNP	.											HIST2H2AC,NS,carcinoma,-2,3	HIST2H2AC	75	3	0			c.C280G						PASS	.						70	71	70					1																	149858804		2203	4298	6501	SO:0001583	missense	8338	exon1			GAGGAACTGAACA	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.280C>G	1.37:g.149858804C>G	ENSP00000332194:p.Leu94Val	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	272	68	0.25	NM_003517	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650732	0.14516	.	.	ENSG00000184260	ENST00000331380	T	0.52983	0.64	5.67	3.82	0.43975	Histone-fold (2);Histone H2A (1);	0.000000	0.38778	N	0.001568	T	0.68997	0.3062	H	0.95917	3.74	0.33693	D	0.613536	D	0.71674	0.998	D	0.80764	0.994	T	0.78391	-0.2222	10	0.87932	D	0	.	11.0346	0.47793	0.0:0.8491:0.0:0.1509	.	94	Q16777	H2A2C_HUMAN	V	94	ENSP00000332194:L94V	ENSP00000332194:L94V	L	+	1	2	HIST2H2AC	148125428	1.000000	0.71417	0.199000	0.23439	0.005000	0.04900	5.888000	0.69758	0.771000	0.33359	-0.136000	0.14681	CTG	.	.	none		0.592	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		G	149858804	C	G	149858804	3	3	18	1	0	0	0	0	1	0	0	0	7178	564	20	4	282	4	HIST2H2AC	1	149858804	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	29012745	149858804	99391817	17	4428										
CELF3	11189	hgsc.bcm.edu	37	chr1	151678722	151678722	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctctttgctgctgctgctgTtgctgctgctgctgctgctg	12	12	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Silent_p.Q163Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																					p.Q368Q		Atlas-SNP	.											CELF3,caecum,carcinoma,0,1	CELF3	49	1	0			c.A1104G						scavenged	.						19	20	20					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189	exon10			CTGCTGTTGCTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	1.37:g.151678722T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	89	3	0.0337079	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC	.	.	none		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		C	151678722	T	C	151678722	2	2	18	1	0	0	0	0	0	0	0	1	3217	1722	60	2		2	CELF3	1	151678722	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	1819918	151678722	97571899	18	4429										
HRNR	388697	hgsc.bcm.edu	37	chr1	152187485	152187485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atgggccacggctggaagaaCgacctgagccagacccatgt	13	12	0	3	rs571489109	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:152187485C>T	ENST00000368801.2	-	3	6695	c.6620G>A	c.(6619-6621)cGt>cAt	p.R2207H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGAACGACCTGAGCC	0.597													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		38924	0.0		0.0	False		,,,				2504	0.001				p.R2207H		Atlas-SNP	.											HRNR,trunk,malignant_melanoma,-1,1	HRNR	403	1	0			c.G6620A						scavenged	.						24	37	32					1																	152187485		2153	4277	6430	SO:0001583	missense	388697	exon3			GAAGAACGACCTG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6620G>A	1.37:g.152187485C>T	ENSP00000357791:p.Arg2207His	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	272	16	0.0588235	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.903	0.734868	0.15574	.	.	ENSG00000197915	ENST00000368801	T	0.17854	2.25	3.18	-2.56	0.06268	.	.	.	.	.	T	0.03178	0.0093	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44159	-0.9346	9	0.45353	T	0.12	.	4.6072	0.12383	0.0:0.3414:0.1691:0.4895	.	2207	Q86YZ3	HORN_HUMAN	H	2207	ENSP00000357791:R2207H	ENSP00000357791:R2207H	R	-	2	0	HRNR	150454109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.349000	0.08274	-0.506000	0.04501	CGT	.	.	none		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152187485	C	T	152187485	3	4	18	1	0	0	0	0	1	0	0	0	7359	536	19	1	1936	1	HRNR	1	152187485	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	508763	152187485	97063136	19	4430										
CACNA1E	777	hgsc.bcm.edu	37	chr1	181689418	181689418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcatcagtttgcttttcctcCtcttcctcttcatcgttgtc	4	14	5	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:181689418C>T	ENST00000367573.2	+	14	1828	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	CACNA1E_ENST00000526775.1_Missense_Mutation_p.L610F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L561F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L217F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L610F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L561F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L610F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	610					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						GCTTTTCCTCCTCTTCCTCTT	0.463																																					p.L610F		Atlas-SNP	.											.	CACNA1E	778	.	0			c.C1828T						PASS	.						230	205	213					1																	181689418		1997	4164	6161	SO:0001583	missense	777	exon14			TTCCTCCTCTTCC	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.1828C>T	1.37:g.181689418C>T	ENSP00000356545:p.Leu610Phe	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	262	38	0.145038	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182207	0.94885	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.99285	1.0897	10	0.87932	D	0	.	18.2263	0.89918	0.0:1.0:0.0:0.0	.	610;610	Q15878-2;Q15878-3	.;.	F	610;610;561;561;217;610;610	ENSP00000356542:L610F;ENSP00000434814:L610F;ENSP00000350183:L561F;ENSP00000351101:L561F;ENSP00000356539:L217F;ENSP00000353222:L610F;ENSP00000356545:L610F	ENSP00000350183:L561F	L	+	1	0	CACNA1E	179956041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.711000	0.84669	2.391000	0.81399	0.563000	0.77884	CTC	.	.	none		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181689418	C	T	181689418	3	4	18	1	0	0	0	0	1	0	0	0	2542	681	24	2	1882	2	CACNA1E	1	181689418	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	29501933	181689418	67561203	20	4431										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274867	203274867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcagcggggcgctccaggagGcactcacaggtgagcgcatg	16	12	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:203274867G>C	ENST00000290551.4	+	1	204	c.133G>C	c.(133-135)Gca>Cca	p.A45P	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	45					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A45T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCTCCAGGAGGCACTCACAGG	0.706																																					p.A45P		Atlas-SNP	.											BTG2,lymph_node,lymphoid_neoplasm,-1,2	BTG2	16	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G133C						PASS	.						11	13	13					1																	203274867		2020	3950	5970	SO:0001583	missense	7832	exon1			CAGGAGGCACTCA		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.133G>C	1.37:g.203274867G>C	ENSP00000290551:p.Ala45Pro	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	86	15	0.174419	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163593	0.78226	.	.	ENSG00000159388	ENST00000290551	T	0.25085	1.82	4.4	4.4	0.53042	Anti-proliferative protein (3);	0.078518	0.49916	D	0.000121	T	0.52008	0.1708	M	0.82630	2.6	0.47374	D	0.999406	D	0.62365	0.991	D	0.64687	0.928	T	0.58222	-0.7674	10	0.51188	T	0.08	-33.413	15.7078	0.77598	0.0:0.0:1.0:0.0	.	45	P78543	BTG2_HUMAN	P	45	ENSP00000290551:A45P	ENSP00000290551:A45P	A	+	1	0	BTG2	201541490	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	4.326000	0.59241	2.282000	0.76494	0.471000	0.43371	GCA	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		C	203274867	G	C	203274867	3	2	18	1	0	0	0	0	1	0	0	0	1554	1203	42	4	135	4	BTG2	1	203274867	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	21585449	203274867	45975754	21	4432			1	25		3	3	1421	N	T_G_C	4.917814e-05
BTG2	7832	hgsc.bcm.edu	37	chr1	203274878	203274878	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctccaggaggcactcacaggTgagcgcatgccgaggggcct	15	13	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:203274878T>C	ENST00000290551.4	+	1	213		c.e1+2		RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2						anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CACTCACAGGTGAGCGCATGC	0.706																																					.		Atlas-SNP	.											.	BTG2	16	.	0			c.142+2T>C						PASS	.						10	12	12					1																	203274878		1987	3852	5839	SO:0001630	splice_region_variant	7832	exon1			CACAGGTGAGCGC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.142+2T>C	1.37:g.203274878T>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	79	14	0.177215	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Splice_Site	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094946	0.56075	.	.	ENSG00000159388	ENST00000290551	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2923	0.54825	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTG2	201541501	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	6.849000	0.75414	1.785000	0.52413	0.386000	0.25728	.	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	Intron	C	203274878	T	C	203274878	5	2	18	1	0	0	0	0	0	0	1	0	1554	1710	59	2	146	2	BTG2	1	203274878	Splice_Site	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	11	203274878	45975743	22	4433			1	25		3	3	1421	N	T_G_C	4.917814e-05
BTG2	7832	hgsc.bcm.edu	37	chr1	203276287	203276287	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tccaagggctccggctaccgCtgcattcgcatcaaccacaa	8	16	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:203276287C>G	ENST00000290551.4	+	2	269	c.198C>G	c.(196-198)cgC>cgG	p.R66R	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	66					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGGCTACCGCTGCATTCGCA	0.612																																					p.R66R		Atlas-SNP	.											BTG2,NS,carcinoma,+2,1	BTG2	16	1	0			c.C198G						PASS	.						46	48	47					1																	203276287		2203	4300	6503	SO:0001819	synonymous_variant	7832	exon2			CTACCGCTGCATT		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.198C>G	1.37:g.203276287C>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	66	14	0.212121	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.612	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		G	203276287	C	G	203276287	2	3	18	1	0	0	0	0	0	0	0	1	1554	784	28	4		4	BTG2	1	203276287	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	1409	203276287	45974334	23	4434			1	25		3	3	1421	N	T_G_C	4.917814e-05
MAPKAPK2	9261	hgsc.bcm.edu	37	chr1	206858801	206858801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cctggggctgggcatcaacgGcaaagttttgcagatcttca	12	10	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:206858801G>A	ENST00000367103.3	+	1	420	c.227G>A	c.(226-228)gGc>gAc	p.G76D	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.G76D	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGCATCAACGGCAAAGTTTTG	0.607																																					p.G76D		Atlas-SNP	.											.	MAPKAPK2	45	.	0			c.G227A						PASS	.						46	48	47					1																	206858801		2203	4300	6503	SO:0001583	missense	9261	exon1			TCAACGGCAAAGT	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.227G>A	1.37:g.206858801G>A	ENSP00000356070:p.Gly76Asp	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	78	18	0.230769	NM_004759	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252052	0.80135	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.80738	-1.41;-1.41	3.52	3.52	0.40303	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.92136	0.7507	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93986	0.7262	9	0.87932	D	0	-15.4357	12.5833	0.56403	0.0:0.0:1.0:0.0	.	76;76	P49137;P49137-2	MAPK2_HUMAN;.	D	76	ENSP00000294981:G76D;ENSP00000356070:G76D	ENSP00000294981:G76D	G	+	2	0	MAPKAPK2	204925424	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	8.642000	0.91036	1.789000	0.52484	0.195000	0.17529	GGC	.	.	none		0.607	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		A	206858801	G	A	206858801	3	1	18	1	0	0	0	0	1	0	0	0	9289	1203	42	2	229	2	MAPKAPK2	1	206858801	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3582514	206858801	42391820	24	4435										
AIDA	64853	hgsc.bcm.edu	37	chr1	222885628	222885628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcctaaaactggcgccccagCgctgcagcagactccgggtc	11	16	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:222885628C>T	ENST00000340020.6	-	1	238	c.32G>A	c.(31-33)cGc>cAc	p.R11H	AIDA_ENST00000541237.1_Intron|BROX_ENST00000539697.1_5'Flank|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11H|BROX_ENST00000340934.5_5'Flank|BROX_ENST00000537020.1_5'Flank	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	11					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GGCGCCCCAGCGCTGCAGCAG	0.672																																					p.R11H		Atlas-SNP	.											.	AIDA	23	.	0			c.G32A						PASS	.						14	13	14					1																	222885628		2197	4265	6462	SO:0001583	missense	64853	exon1			CCCCAGCGCTGCA	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.32G>A	1.37:g.222885628C>T	ENSP00000339161:p.Arg11His	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	175	35	0.2	NM_022831	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375314	0.61735	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.19	5.19	0.71726	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.063428	0.64402	D	0.000002	T	0.52725	0.1752	L	0.29908	0.895	0.80722	D	1	B	0.31077	0.307	B	0.41666	0.363	T	0.56583	-0.7955	9	0.59425	D	0.04	.	11.8464	0.52387	0.0:0.9189:0.0:0.0811	.	11	Q96BJ3	AIDA_HUMAN	H	11	.	ENSP00000339161:R11H	R	-	2	0	AIDA	220952251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.068000	0.41471	2.435000	0.82474	0.549000	0.68633	CGC	.	.	none		0.672	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		T	222885628	C	T	222885628	3	4	18	1	0	0	0	0	1	0	0	0	423	768	27	1	928	1	AIDA	1	222885628	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	16026827	222885628	26364993	25	4436										
C1orf65	164127	hgsc.bcm.edu	37	chr1	223567173	223567173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gacaggaaccaagccccgccCggcttggcagccgcagaccc	12	18	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:223567173C>T	ENST00000366875.3	+	1	459	c.356C>T	c.(355-357)cCg>cTg	p.P119L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		119	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGCCCCGCCCGGCTTGGCAG	0.726																																					p.P119L		Atlas-SNP	.											.	C1orf65	71	.	0			c.C356T						PASS	.						4	6	6					1																	223567173		1859	3868	5727	SO:0001583	missense	164127	exon1			CCCGCCCGGCTTG																												ENST00000366875.3:c.356C>T	1.37:g.223567173C>T	ENSP00000355840:p.Pro119Leu	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	30	6	0.2	NM_152610	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382072	0.24944	.	.	ENSG00000178395	ENST00000366875	T	0.17854	2.25	4.48	-4.17	0.03857	.	.	.	.	.	T	0.07728	0.0194	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.36065	-0.9763	9	0.33141	T	0.24	.	0.34	0.00332	0.279:0.29:0.1491:0.2819	.	119	Q8N715	CA065_HUMAN	L	119	ENSP00000355840:P119L	ENSP00000355840:P119L	P	+	2	0	C1orf65	221633796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.205000	0.01232	-0.870000	0.04047	-0.230000	0.12252	CCG	.	.	none		0.726	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223567173	C	T	223567173	3	4	18	1	0	0	0	0	1	0	0	0	2055	652	23	1	358	1	C1orf65	1	223567173	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	681545	223567173	25683448	26	4437										
TTC13	79573	hgsc.bcm.edu	37	chr1	231093993	231093993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	actcttcatttgtgctgtcaTtatcagtggcaaacgggaat	9	8	4	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:231093993T>C	ENST00000366661.4	-	3	426	c.419A>G	c.(418-420)aAt>aGt	p.N140S	TTC13_ENST00000414259.1_Missense_Mutation_p.N140S|TTC13_ENST00000366662.4_Missense_Mutation_p.N140S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	140										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGTGCTGTCATTATCAGTGGC	0.373																																					p.N140S		Atlas-SNP	.											.	TTC13	74	.	0			c.A419G						PASS	.						132	123	126					1																	231093993		2203	4300	6503	SO:0001583	missense	79573	exon3			CTGTCATTATCAG		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.419A>G	1.37:g.231093993T>C	ENSP00000355621:p.Asn140Ser	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	168	27	0.160714	NM_001122835	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.57|13.57	2.276579|2.276579	0.40294|0.40294	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000522821|ENST00000366661;ENST00000366662;ENST00000414259	.|T;T;T	.|0.53206	.|0.85;0.65;0.63	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29556|0.29556	0.0737|0.0737	N|N	0.19112|0.19112	0.55|0.55	0.49389|0.49389	D|D	0.99978|0.99978	.|P;P;P	.|0.46395	.|0.877;0.739;0.495	.|B;B;B	.|0.36464	.|0.192;0.225;0.084	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.11182	.|T	.|0.66	-0.015|-0.015	15.4063|15.4063	0.74881|0.74881	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|140;140;140	.|E9PGV4;Q8NBP0-2;Q8NBP0	.|.;.;TTC13_HUMAN	V|S	129|140	.|ENSP00000355621:N140S;ENSP00000355622:N140S;ENSP00000416631:N140S	.|ENSP00000355621:N140S	M|N	-|-	1|2	0|0	TTC13|TTC13	229160616|229160616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.206000|5.206000	0.65192|0.65192	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	ATG|AAT	.	.	none		0.373	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		C	231093993	T	C	231093993	3	2	18	1	0	0	0	0	1	0	0	0	16677	1493	52	2	2247	2	TTC13	1	231093993	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	7526820	231093993	18156628	27	4438										
CHRM3	1131	hgsc.bcm.edu	37	chr1	240072488	240072488	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	taccagcagagacagtcggtCatttttcacaagcgcgcacc	9	13	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:240072488C>A	ENST00000255380.4	+	5	2516	c.1737C>A	c.(1735-1737)gtC>gtA	p.V579V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	579					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GACAGTCGGTCATTTTTCACA	0.488																																					p.V579V		Atlas-SNP	.											.	CHRM3	118	.	0			c.C1737A						PASS	.						43	44	44					1																	240072488		2203	4300	6503	SO:0001819	synonymous_variant	1131	exon5			GTCGGTCATTTTT	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1737C>A	1.37:g.240072488C>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	120	29	0.241667	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	CCDS1616.1																																																																																			.	.	none		0.488	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240072488	C	A	240072488	2	1	18	1	0	0	0	0	0	0	0	1	3378	813	29	4		4	CHRM3	1	240072488	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	8978495	240072488	9178133	28	4439										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616764	248616764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctgtctcctacacgcacatCctcctgactgtccacaggat	6	16	2	1	rs376553658		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																					p.I222I		Atlas-SNP	.											OR2T2,NS,carcinoma,0,1	OR2T2	73	1	0			c.C666T						scavenged	.						182	125	144					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	401992	exon1			GCACATCCTCCTG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T		Somatic	343	6	0.0174927		WXS	Illumina HiSeq	Phase_I	356	14	0.0393258	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			C|0.500;T|0.500	0.500	strong		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616764	C	T	248616764	2	4	18	1	0	0	0	0	0	0	0	1	11020	845	30	2		2	OR2T2	1	248616764	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	8544276	248616764	633857	29	4440										
SLC8A1	6546	hgsc.bcm.edu	37	chr2	40655834	40655834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggtcatcatcaaaaatagtTacagtggcagtggagggaga	13	5	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:40655834T>C	ENST00000403092.1	-	2	1620	c.1587A>G	c.(1585-1587)gtA>gtG	p.V529V	SLC8A1_ENST00000332839.4_Silent_p.V529V|SLC8A1_ENST00000406391.2_Silent_p.V529V|SLC8A1_ENST00000542756.1_Silent_p.V529V|SLC8A1_ENST00000405901.3_Silent_p.V529V|SLC8A1_ENST00000402441.1_Silent_p.V529V|SLC8A1_ENST00000542024.1_Silent_p.V529V|SLC8A1_ENST00000405269.1_Silent_p.V529V|SLC8A1_ENST00000406785.2_Silent_p.V529V|SLC8A1_ENST00000408028.2_Silent_p.V529V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	529	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAAAATAGTTACAGTGGCAG	0.438																																					p.V529V		Atlas-SNP	.											.	SLC8A1	221	.	0			c.A1587G						PASS	.						111	110	111					2																	40655834		2203	4300	6503	SO:0001819	synonymous_variant	6546	exon1			AATAGTTACAGTG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1587A>G	2.37:g.40655834T>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	152	37	0.243421	NM_001252624	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	CCDS1806.1																																																																																			.	.	none		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		C	40655834	T	C	40655834	2	2	18	1	0	0	0	0	0	0	0	1	14706	1741	61	2		2	SLC8A1	2	40655834	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10		40655834	202543539	30	4441										
BCL11A	53335	hgsc.bcm.edu	37	chr2	60689133	60689133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgggaggctccatagccattGgattcaaccgcagcaccctg	11	14	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:60689133G>A	ENST00000335712.6	-	4	1141	c.914C>T	c.(913-915)cCa>cTa	p.P305L	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P271L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P271L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P305L|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	305	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CATAGCCATTGGATTCAACCG	0.632			T	IGH@	B-CLL																																p.P305L		Atlas-SNP	.		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	BCL11A_ENST00000356842,caecum,carcinoma,0,5	BCL11A	298	5	0			c.C914T						PASS	.						50	56	54					2																	60689133		2203	4300	6503	SO:0001583	missense	53335	exon4			GCCATTGGATTCA	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.914C>T	2.37:g.60689133G>A	ENSP00000338774:p.Pro305Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	54	18	0.333333	NM_018014	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691230	0.48097	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.12569	2.87;2.67;2.83;2.68	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	L	0.58101	1.795	0.80722	D	1	D;P;P;D	0.67145	0.983;0.728;0.83;0.996	D;B;P;P	0.64410	0.925;0.277;0.49;0.889	T	0.01053	-1.1467	10	0.66056	D	0.02	-0.8491	20.139	0.98050	0.0:0.0:1.0:0.0	.	271;271;305;305	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	305;341;271;305;271	ENSP00000349300:P305L;ENSP00000438303:P271L;ENSP00000338774:P305L;ENSP00000351307:P271L	ENSP00000338774:P305L	P	-	2	0	BCL11A	60542637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.764000	0.94973	0.655000	0.94253	CCA	.	.	none		0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		A	60689133	G	A	60689133	3	1	18	1	0	0	0	0	1	0	0	0	1363	1348	47	2	1703	2	BCL11A	2	60689133	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	20033299	60689133	182510240	31	4442										
ETAA1	54465	hgsc.bcm.edu	37	chr2	67630426	67630426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tttgataaaaatatggaagaGctagatgtgattcaagagca	10	3	1	5			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:67630426G>A	ENST00000272342.5	+	5	742	c.612G>A	c.(610-612)gaG>gaA	p.E204E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	204						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						ATATGGAAGAGCTAGATGTGA	0.259																																					p.E204E		Atlas-SNP	.											.	ETAA1	88	.	0			c.G612A						PASS	.						29	36	34					2																	67630426		2180	4273	6453	SO:0001819	synonymous_variant	54465	exon5			GGAAGAGCTAGAT	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.612G>A	2.37:g.67630426G>A		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	160	34	0.2125	NM_019002	Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	CCDS1882.1																																																																																			.	.	none		0.259	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		A	67630426	G	A	67630426	2	1	18	1	0	0	0	0	0	0	0	1	5267	962	34	2		2	ETAA1	2	67630426	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	6941293	67630426	175568947	32	4443										
SULT1C2	6819	hgsc.bcm.edu	37	chr2	108917339	108917339	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctctccacggatactaaagaCtcacctttccactcagctgc	5	16	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:108917339C>G	ENST00000437390.2	+	4	542	c.365C>G	c.(364-366)aCt>aGt	p.T122S	SULT1C2_ENST00000251481.6_Missense_Mutation_p.T108S|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Intron			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	114					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATACTAAAGACTCACCTTTCC	0.478																																					p.T108S		Atlas-SNP	.											.	SULT1C2	82	.	0			c.C323G						PASS	.						180	200	194					2																	108917339		2203	4300	6503	SO:0001583	missense	6819	exon4			TAAAGACTCACCT	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.365C>G	2.37:g.108917339C>G	ENSP00000399651:p.Thr122Ser	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	113	34	0.300885	NM_001056	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.925506|2.925506	0.52759|0.52759	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000437390	.|D;D	.|0.84516	.|-1.86;-1.86	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Sulfotransferase domain (1);	.|.	.|.	.|.	.|.	T|T	0.81912|0.81912	0.4923|0.4923	L|L	0.47016|0.47016	1.485|1.485	0.36646|0.36646	D|D	0.877121|0.877121	.|B;B	.|0.13594	.|0.008;0.002	.|B;B	.|0.27715	.|0.082;0.03	T|T	0.79773|0.79773	-0.1662|-0.1662	5|9	.|0.23891	.|T	.|0.37	.|.	15.9394|15.9394	0.79743|0.79743	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|122;108	.|B4DLP0;O00338	.|.;ST1C2_HUMAN	E|S	104|108;122	.|ENSP00000251481:T108S;ENSP00000399651:T122S	.|ENSP00000251481:T108S	D|T	+|+	3|2	2|0	SULT1C2|SULT1C2	108283771|108283771	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.891000|0.891000	0.51852|0.51852	4.926000|4.926000	0.63433|0.63433	2.225000|2.225000	0.72522|0.72522	0.591000|0.591000	0.81541|0.81541	GAC|ACT	.	.	none		0.478	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		G	108917339	C	G	108917339	3	3	18	1	0	0	0	0	1	0	0	0	15374	565	20	4	432	4	SULT1C2	2	108917339	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	41286913	108917339	134282034	33	4444										
MERTK	10461	hgsc.bcm.edu	37	chr2	112779062	112779062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctaagaagatttacagtggCgattattaccgccaaggccg	10	9	1	2	rs149178674		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:112779062C>T	ENST00000295408.4	+	17	2510	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	MERTK_ENST00000409780.1_Silent_p.G575G|MERTK_ENST00000421804.2_Silent_p.G751G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G751G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTACAGTGGCGATTATTACC	0.478																																					p.G751G		Atlas-SNP	.											MERTK,colon,carcinoma,0,1	MERTK	112	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C2253T						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	151	145	147		2253	-10.5	0.1	2	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		751/1000	112779062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10461	exon17			CAGTGGCGATTAT	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2253C>T	2.37:g.112779062C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	88	20	0.227273	NM_006343	Q9HBB4	Silent	SNP	ENST00000295408.4	37	CCDS2094.1																																																																																			C|1.000;T|0.000	0.000	weak		0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			T	112779062	C	T	112779062	2	4	18	1	0	0	0	0	0	0	0	1	9479	755	27	1		1	MERTK	2	112779062	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	3861723	112779062	130420311	34	4445										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147238	113147238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctcttcgcatcagcattcttAgtttgccattgacctcgttt	6	12	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:113147238A>G	ENST00000302558.3	-	20	3475	c.3284T>C	c.(3283-3285)cTa>cCa	p.L1095P	RGPD8_ENST00000409750.1_Missense_Mutation_p.L955P	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1095	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CAGCATTCTTAGTTTGCCATT	0.418																																					p.L1095P		Atlas-SNP	.											RGPD8_ENST00000302558,NS,carcinoma,0,2	RGPD8	81	2	0			c.T3284C						scavenged	.						1	1	1					2																	113147238		3	5	8	SO:0001583	missense	727851	exon20			ATTCTTAGTTTGC	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3284T>C	2.37:g.113147238A>G	ENSP00000306637:p.Leu1095Pro	Somatic	66	3	0.0454545		WXS	Illumina HiSeq	Phase_I	68	8	0.117647	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.070	-1.203988	0.01581	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.44083	0.93;0.93	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.39682	0.1087	M	0.70595	2.14	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.36890	-0.9729	9	0.48119	T	0.1	-0.3282	8.205	0.31449	1.0:0.0:0.0:0.0	.	1095	O14715	RGPD8_HUMAN	P	1095;955	ENSP00000306637:L1095P;ENSP00000386511:L955P	ENSP00000306637:L1095P	L	-	2	0	RGPD8	112863709	1.000000	0.71417	0.884000	0.34674	0.576000	0.36127	7.271000	0.78506	1.068000	0.40764	0.128000	0.15822	CTA	.	.	weak		0.418	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		G	113147238	A	G	113147238	3	3	18	1	0	0	0	0	1	0	0	0	13289	420	15	3	13043	3	RGPD5	2	113147238	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	368176	113147238	130052135	35	4446										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114256859	114256859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cctgccaagagctgagcgccCtcgctccacaccgcagcgca	10	19	0	2	rs189095552	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:114256859C>T	ENST00000306507.5	+	1	199	c.26C>T	c.(25-27)cCt>cTt	p.P9L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	9					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P9L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCTGAGCGCCCTCGCTCCACA	0.647																																					p.P9L		Atlas-SNP	.											FOXD4L1,NS,malignant_melanoma,0,2	FOXD4L1	48	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C26T						scavenged	.						24	34	31					2																	114256859		2142	4164	6306	SO:0001583	missense	200350	exon1			AGCGCCCTCGCTC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.26C>T	2.37:g.114256859C>T	ENSP00000302756:p.Pro9Leu	Somatic	179	2	0.0111732		WXS	Illumina HiSeq	Phase_I	164	5	0.0304878	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	265	0.12133699633699634	29	0.05894308943089431	63	0.17403314917127072	122	0.21328671328671328	51	0.06728232189973615	.	0	-2.671754	0.00104	.	.	ENSG00000184492	ENST00000306507	D	0.93307	-3.2	2.57	0.149	0.14863	.	.	.	.	.	T	0.00178	0.0005	N	0.01168	-0.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.18276	T	0.48	.	6.9208	0.24387	0.0:0.5889:0.0:0.4111	rs2757969;rs4644326	9	Q9NU39	FX4L1_HUMAN	L	9	ENSP00000302756:P9L	ENSP00000302756:P9L	P	+	2	0	FOXD4L1	113973329	0.000000	0.05858	0.270000	0.24601	0.060000	0.15804	-0.419000	0.07071	-0.116000	0.11893	-1.461000	0.01025	CCT	.	.	weak		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		T	114256859	C	T	114256859	3	4	18	1	0	0	0	0	1	0	0	0	6000	681	24	2	28	2	FOXD4L1	2	114256859	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	1109621	114256859	128942514	36	4447										
CXCR4	7852	hgsc.bcm.edu	37	chr2	136873448	136873448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggagtcatagtcccctgagCccatttcctcggtgtagtta	10	11	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:136873448C>T	ENST00000241393.3	-	2	154	c.50G>A	c.(49-51)gGc>gAc	p.G17D	CXCR4_ENST00000409817.1_Missense_Mutation_p.G21D|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	17	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GTCCCCTGAGCCCATTTCCTC	0.403																																					p.G21D		Atlas-SNP	.											.	CXCR4	51	.	0			c.G62A						PASS	.						74	79	78					2																	136873448		2203	4300	6503	SO:0001583	missense	7852	exon1			CCTGAGCCCATTT	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.50G>A	2.37:g.136873448C>T	ENSP00000241393:p.Gly17Asp	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	126	39	0.309524	NM_001008540	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291560	0.59976	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.59502	0.26;0.26	5.88	5.88	0.94601	CXC chemokine receptor, type 4, N-terminal (1);	0.151224	0.50627	D	0.000111	T	0.48607	0.1509	L	0.27053	0.805	0.80722	D	1	B;B	0.15930	0.006;0.015	B;B	0.16289	0.015;0.011	T	0.30534	-0.9975	10	0.27082	T	0.32	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	17;21	P61073;P61073-2	CXCR4_HUMAN;.	D	21;17	ENSP00000386884:G21D;ENSP00000241393:G17D	ENSP00000241393:G17D	G	-	2	0	CXCR4	136589918	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.359000	0.66074	2.789000	0.95967	0.655000	0.94253	GGC	.	.	none		0.403	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			T	136873448	C	T	136873448	3	4	18	1	0	0	0	0	1	0	0	0	4093	739	26	2	1012	2	CXCR4	2	136873448	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	22616589	136873448	106325925	37	4448										
GPD2	2820	hgsc.bcm.edu	37	chr2	157407178	157407178	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggacctttcacggactctgtGcgcaaaatggatgataaaga	11	8	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:157407178G>T	ENST00000310454.6	+	8	1263	c.891G>T	c.(889-891)gtG>gtT	p.V297V	GPD2_ENST00000409674.1_Silent_p.V297V|GPD2_ENST00000409125.4_Silent_p.V70V|GPD2_ENST00000540309.1_Silent_p.V297V|GPD2_ENST00000438166.2_Silent_p.V297V	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	297					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CGGACTCTGTGCGCAAAATGG	0.468																																					p.V297V		Atlas-SNP	.											.	GPD2	59	.	0			c.G891T						PASS	.						126	111	116					2																	157407178		2203	4300	6503	SO:0001819	synonymous_variant	2820	exon8			CTCTGTGCGCAAA		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.891G>T	2.37:g.157407178G>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	119	25	0.210084	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																			.	.	none		0.468	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			T	157407178	G	T	157407178	2	4	18	1	0	0	0	0	0	0	0	1	6606	1306	46	4		4	GPD2	2	157407178	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	20533730	157407178	85792195	38	4449										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167313511	167313511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aagtatgcctaagaacaaacTtgccatataaaaggaaaaca	6	7	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:167313511T>C	ENST00000409855.1	-	10	1285	c.1159A>G	c.(1159-1161)Agt>Ggt	p.S387G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	387					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S387G(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGAACAAACTTGCCATATAA	0.353																																					p.S387G		Atlas-SNP	.											SCN7A_ENST00000409855,NS,lymphoid_neoplasm,0,2	SCN7A	410	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.A1159G						PASS	.						76	65	68					2																	167313511		1818	4080	5898	SO:0001583	missense	6332	exon10			ACAAACTTGCCAT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1159A>G	2.37:g.167313511T>C	ENSP00000386796:p.Ser387Gly	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	187	44	0.235294	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687193	0.88639	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98550	-4.99;-4.99;-4.99	5.35	5.35	0.76521	Ion transport (1);	0.201865	0.35262	N	0.003327	D	0.98220	0.9411	L	0.46157	1.445	0.37219	D	0.905164	D	0.63046	0.992	D	0.76071	0.987	D	0.99956	1.1628	10	0.87932	D	0	.	13.2728	0.60170	0.0:0.0:0.0:1.0	.	387	Q01118	SCN7A_HUMAN	G	387	ENSP00000386796:S387G;ENSP00000413699:S387G;ENSP00000403846:S387G	ENSP00000259060:S387G	S	-	1	0	SCN7A	167021757	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.937000	0.87672	2.006000	0.58801	0.454000	0.30748	AGT	.	.	none		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			C	167313511	T	C	167313511	3	2	18	1	0	0	0	0	1	0	0	0	13923	1609	56	3	3953	3	SCN7A	2	167313511	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	9906333	167313511	75885862	39	4450										
ITGAV	3685	hgsc.bcm.edu	37	chr2	187521026	187521026	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aagcaaaagggagcaattcgAcgagcactgtttctctacag	10	9	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:187521026A>C	ENST00000261023.3	+	17	1891	c.1617A>C	c.(1615-1617)cgA>cgC	p.R539R	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.R503R|ITGAV_ENST00000433736.2_Silent_p.R493R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	539					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)	GAGCAATTCGACGAGCACTGT	0.423																																					p.R539R	Melanoma(58;108 1995 6081)	Atlas-SNP	.											ITGAV,rectum,carcinoma,+2,1	ITGAV	124	1	0			c.A1617C						PASS	.						199	197	198					2																	187521026		2203	4300	6503	SO:0001819	synonymous_variant	3685	exon17			AATTCGACGAGCA		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.1617A>C	2.37:g.187521026A>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	192	36	0.1875	NM_002210	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																			.	.	none		0.423	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		C	187521026	A	C	187521026	2	2	18	1	0	0	0	0	0	0	0	1	7888	262	10	5		5	ITGAV	2	187521026	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	20207515	187521026	55678347	40	4451										
FAM171B	165215	hgsc.bcm.edu	37	chr2	187559053	187559053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cagcagcagcagcagcaacaAcaacaacaacagcaaaagca	7	13	0	0	rs2370706	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:187559053A>G	ENST00000304698.5	+	1	356	c.153A>G	c.(151-153)caA>caG	p.Q51Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	51	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcaacaacaacaacaac	0.632																																					p.Q51Q		Atlas-SNP	.											FAM171B,NS,neuroblastoma,0,1	FAM171B	146	1	0			c.A153G						PASS	.						26	29	28					2																	187559053		2202	4300	6502	SO:0001819	synonymous_variant	165215	exon1			GCAACAACAACAA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.153A>G	2.37:g.187559053A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	75	9	0.12	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																			A|0.417;G|0.583	0.583	strong		0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		G	187559053	A	G	187559053	2	3	18	1	0	0	0	0	0	0	0	1	5491	40	2	2		2	FAM171B	2	187559053	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	38027	187559053	55640320	41	4452										
CCDC150	284992	hgsc.bcm.edu	37	chr2	197531530	197531530	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cccaggaacaaaaaaaaaaaGaagagttggagattgctact	9	6	0	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:197531530G>A	ENST00000389175.4	+	7	985	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	284										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAAAAAAAAGAAGAGTTGGA	0.373																																					p.E284K		Atlas-SNP	.											CCDC150,NS,carcinoma,0,1	CCDC150	96	1	0			c.G850A						scavenged	.						47	46	46					2																	197531530		1808	4075	5883	SO:0001583	missense	284992	exon7			AAAAAAGAAGAGT		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.850G>A	2.37:g.197531530G>A	ENSP00000373827:p.Glu284Lys	Somatic	346	9	0.0260116		WXS	Illumina HiSeq	Phase_I	440	15	0.0340909	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144035	0.06627	.	.	ENSG00000144395	ENST00000389175	T	0.30448	1.53	5.32	1.43	0.22495	.	1.910860	0.02255	N	0.066994	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	10	0.06099	T	0.92	0.4604	8.7566	0.34650	0.3193:0.0:0.6807:0.0	.	284	Q8NCX0	CC150_HUMAN	K	284	ENSP00000373827:E284K	ENSP00000373827:E284K	E	+	1	0	CCDC150	197239775	0.052000	0.20516	0.000000	0.03702	0.897000	0.52465	1.422000	0.34826	0.371000	0.24564	0.655000	0.94253	GAA	.	.	none		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		A	197531530	G	A	197531530	3	1	18	1	0	0	0	0	1	0	0	0	2785	943	33	2	876	2	CCDC150	2	197531530	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9972477	197531530	45667843	42	4453										
UGT1A9	54600	hgsc.bcm.edu	37	chr2	234580967	234580967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aattgcaggagtttgtttaaAgacaaaaaattagtagaata	8	2	0	2	rs28946876	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.K129K			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																					p.K129K		Atlas-SNP	.											UGT1A9,colon,carcinoma,0,1	UGT1A9	79	1	0			c.A387G						scavenged	.						99	101	101					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600	exon1			GTTTAAAGACAAA	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G		Somatic	145	3	0.0206897		WXS	Illumina HiSeq	Phase_I	162	9	0.0555556	NM_021027	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																			.	.	alt		0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234580967	A	G	234580967	2	3	18	1	0	0	0	0	0	0	0	1	16949	69	3	3		3	UGT1A9	2	234580967	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	37049437	234580967	8618406	43	4454										
UGT1A9	54600	hgsc.bcm.edu	37	chr2	234581002	234581002	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agaatacttaaaggagagttCttttgatgcagtgtttctcg	10	5	2	3	rs76167146	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr2:234581002C>G	ENST00000354728.4	+	1	504	c.422C>G	c.(421-423)tCt>tGt	p.S141C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.S141C			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	141					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAGGAGAGTTCTTTTGATGCA	0.358																																					p.S141C		Atlas-SNP	.											UGT1A9,NS,carcinoma,0,1	UGT1A9	79	1	0			c.C422G						scavenged	.						125	125	125					2																	234581002		2203	4300	6503	SO:0001583	missense	54600	exon1			AGAGTTCTTTTGA	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.422C>G	2.37:g.234581002C>G	ENSP00000346768:p.Ser141Cys	Somatic	139	3	0.0215827		WXS	Illumina HiSeq	Phase_I	149	9	0.0604027	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282927	0.10458	.	.	ENSG00000241119	ENST00000354728	T	0.62639	0.01	3.41	3.41	0.39046	.	.	.	.	.	T	0.61375	0.2342	M	0.81942	2.565	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.58036	-0.7707	9	0.66056	D	0.02	.	6.3779	0.21517	0.334:0.5079:0.1581:0.0	.	141;141	Q5DSZ5;O60656	.;UD19_HUMAN	C	141	ENSP00000346768:S141C	ENSP00000346768:S141C	S	+	2	0	UGT1A9	234245741	0.000000	0.05858	0.866000	0.34008	0.471000	0.32888	0.356000	0.20181	1.907000	0.55213	0.440000	0.28878	TCT	C|0.943;G|0.057	0.057	strong		0.358	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234581002	C	G	234581002	3	3	18	1	0	0	0	0	1	0	0	0	16949	913	32	4	424	4	UGT1A9	2	234581002	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	35	234581002	8618371	44	4455										
ITPR1	3708	hgsc.bcm.edu	37	chr3	4722294	4722294	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcctcctgtgtatatttaagCgagagtttgatgaaagcaat	10	6	0	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:4722294C>T	ENST00000443694.2	+	22	2980	c.2980C>T	c.(2980-2982)Cga>Tga	p.R994*	ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R1009*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R994*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R1000*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R985*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R1000*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1009					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R985*(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TATATTTAAGCGAGAGTTTGA	0.398																																					p.R1000X		Atlas-SNP	.											ITPR1,rectum,carcinoma,0,1	ITPR1	659	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2998T						scavenged	.						110	107	108					3																	4722294		1874	4092	5966	SO:0001587	stop_gained	3708	exon25			TTTAAGCGAGAGT	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2980C>T	3.37:g.4722294C>T	ENSP00000401671:p.Arg994*	Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	103	26	0.252427	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.817682	0.98964	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.62	3.74	0.42951	.	0.449318	0.22299	N	0.061883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.1324	0.53950	0.3112:0.6888:0.0:0.0	.	.	.	.	X	1009;994;1009;1000;1000;985;994	.	ENSP00000306253:R994X	R	+	1	2	ITPR1	4697294	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.841000	0.27613	1.141000	0.42275	0.491000	0.48974	CGA	.	.	none		0.398	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4722294	C	T	4722294	4	4	18	1	0	0	0	0	0	1	0	0	7920	760	27	1	3115	1	ITPR1	3	4722294	Nonsense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10		4722294	193300136	45	4456										
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022601	32022601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcgaggagcccgccgaggtaGcacggctgctgctgcggctg	18	13	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:32022601G>A	ENST00000396556.2	-	1	193	c.71C>T	c.(70-72)gCt>gTt	p.A24V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A24V|ZNF860_ENST00000360311.4_5'Flank	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	24					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CGCCGAGGTAGCACGgctgct	0.781																																					p.A24V		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C71T						PASS	.						2	2	2					3																	32022601		815	1738	2553	SO:0001583	missense	114884	exon1			GAGGTAGCACGGC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.71C>T	3.37:g.32022601G>A	ENSP00000379804:p.Ala24Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	114	32	0.280702	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860887	0.51482	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.22539	1.95;2.28	4.02	3.12	0.35913	.	1.483920	0.05400	N	0.540468	T	0.15652	0.0377	N	0.14661	0.345	0.27329	N	0.956829	B;B	0.12630	0.006;0.006	B;B	0.09377	0.002;0.004	T	0.24657	-1.0154	10	0.49607	T	0.09	-5.9363	10.905	0.47076	0.0:0.0:0.8107:0.1893	.	24;24	B4E212;Q9BXB5	.;OSB10_HUMAN	V	24	ENSP00000379804:A24V;ENSP00000406124:A24V	ENSP00000379804:A24V	A	-	2	0	OSBPL10	31997605	0.989000	0.36119	1.000000	0.80357	0.924000	0.55760	1.025000	0.30090	1.010000	0.39314	0.298000	0.19748	GCT	.	.	none		0.781	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	32022601	G	A	32022601	3	1	18	1	0	0	0	0	1	0	0	0	11275	971	34	2	2271	2	OSBPL10	3	32022601	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	27300307	32022601	165999829	46	4457										
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022625	32022625	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggctgctgctgcggctgctgCtgttgctacccccgccgccg	14	17	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:32022625C>G	ENST00000396556.2	-	1	169	c.47G>C	c.(46-48)aGc>aCc	p.S16T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.S16T|ZNF860_ENST00000360311.4_5'Flank	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	16					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		gcggctgctgctgttgctACC	0.791																																					p.S16T		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G47C						PASS	.						2	3	2					3																	32022625		679	1485	2164	SO:0001583	missense	114884	exon1			CTGCTGCTGTTGC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.47G>C	3.37:g.32022625C>G	ENSP00000379804:p.Ser16Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	148	33	0.222973	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672276	0.47781	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.23552	1.9;2.21	3.91	3.91	0.45181	.	0.842884	0.09989	N	0.729989	T	0.16685	0.0401	N	0.14661	0.345	0.27041	N	0.964015	P;P	0.51791	0.948;0.948	B;B	0.40534	0.332;0.332	T	0.05971	-1.0853	10	0.28530	T	0.3	.	13.8256	0.63348	0.0:1.0:0.0:0.0	.	16;16	B4E212;Q9BXB5	.;OSB10_HUMAN	T	16	ENSP00000379804:S16T;ENSP00000406124:S16T	ENSP00000379804:S16T	S	-	2	0	OSBPL10	31997629	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.735000	0.47377	2.196000	0.70406	0.298000	0.19748	AGC	.	.	none		0.791	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			G	32022625	C	G	32022625	3	3	18	1	0	0	0	0	1	0	0	0	11275	797	28	4	2295	4	OSBPL10	3	32022625	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	24	32022625	165999805	47	4458										
C3orf35	339883	hgsc.bcm.edu	37	chr3	37458937	37458937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gagcagatgggcctgcagggCagtgctcagcatttcaacat	13	10	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:37458937C>T	ENST00000328376.5	+	5	1159	c.180C>T	c.(178-180)ggC>ggT	p.G60G	C3orf35_ENST00000452017.2_Silent_p.G60G|C3orf35_ENST00000425932.1_Silent_p.G60G|C3orf35_ENST00000425564.2_Silent_p.G60G|C3orf35_ENST00000426078.1_Silent_p.G60G|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	60						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GCCTGCAGGGCAGTGCTCAGC	0.463																																					p.G60G		Atlas-SNP	.											C3orf35,NS,carcinoma,+2,1	C3orf35	21	1	0			c.C180T						PASS	.						116	112	113					3																	37458937		1902	4110	6012	SO:0001819	synonymous_variant	339883	exon5			GCAGGGCAGTGCT	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"AP20 region protein", "APRG1 tumor suppressor candidate"	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.180C>T	3.37:g.37458937C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	145	29	0.2	NM_178342	B7ZMA0|Q8IVJ5|Q8IVJ9	Silent	SNP	ENST00000328376.5	37	CCDS43065.1																																																																																			.	.	none		0.463	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		T	37458937	C	T	37458937	2	4	18	1	0	0	0	0	0	0	0	1	2225	697	25	2		2	C3orf35	3	37458937	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	5436312	37458937	160563493	48	4459										
MYD88	4615	hgsc.bcm.edu	37	chr3	38182337	38182337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atttgcactcagcctctctcCaggtaagctcaaccctgctc	6	16	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:38182337C>T	ENST00000495303.1	+	2	462	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	MYD88_ENST00000396334.3_Missense_Mutation_p.P258L|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.P213L|MYD88_ENST00000443433.2_Nonsense_Mutation_p.Q198*|MYD88_ENST00000417037.2_Missense_Mutation_p.P266L	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	Intermediate domain. {ECO:0000250}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCCTCTCTCCAGGTAAGCTC	0.552			Mis		ABC-DLBCL																																p.Q198X		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	.	MYD88	900	.	0			c.C592T						PASS	.						125	119	121					3																	38182337		2203	4300	6503	SO:0001587	stop_gained	4615	exon3			TCTCTCCAGGTAA	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.457C>T	3.37:g.38182337C>T	ENSP00000417848:p.Gln153*	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_001172569	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Nonsense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.149061|5.149061	0.94645|0.94645	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.07216|.	3.49;3.21;3.21;3.49|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79028|.	0.4377|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|.	0.80730|.	-0.1252|.	9|.	0.02654|0.87932	T|D	1|0	-8.5502|-8.5502	18.9993|18.9993	0.92826|0.92826	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	200;245;234|.	Q99836-2;Q99836;B4E3D6|.	.;MYD88_HUMAN;.|.	L|X	266;258;213;265;234|153;198	ENSP00000401399:P266L;ENSP00000379625:P258L;ENSP00000389979:P213L;ENSP00000391753:P265L|.	ENSP00000379625:P258L|ENSP00000390565:Q198X	P|Q	+|+	2|1	0|0	MYD88|MYD88	38157341|38157341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.375000|7.375000	0.79646|0.79646	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	CCA|CAG	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		T	38182337	C	T	38182337	4	4	18	1	0	0	0	0	0	1	0	0	10023	595	21	2	811	2	MYD88	3	38182337	Nonsense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	723400	38182337	159840093	49	4460										
TRAK1	22906	hgsc.bcm.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					p.T688delinsTE	GBM(44;195 884 22595 31865 41850)	Pindel	.											TRAK1,caecum,carcinoma,0,1	TRAK1	188	1	1	Deletion - In frame(1)	kidney(1)	c.2063_2064insGGA						PASS	.																																			SO:0001627	intron_variant	22906	exon14			.		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA		Somatic	41	.	.		WXS	Illumina HiSeq	Phase_I	52	12	0.231	NM_001265608	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	ENST00000327628.5	37	CCDS43072.1																																																																																			.	.	strong		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		GGA	42251578	-	GGA	42251577	6	5	18	0	1	1	1	0	0	0	0	0	16446	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-FF-A7CR-01A-11D-A382-10	4069240	42251577	155770853	50	4461										
KLHL18	23276	hgsc.bcm.edu	37	chr3	47385186	47385186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctctggcttcctcagcattGccgagatgtacagctctgtg	11	12	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:47385186G>A	ENST00000232766.5	+	10	1500	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	KLHL18_ENST00000455924.2_Missense_Mutation_p.A382T	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	494										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTCAGCATTGCCGAGATGTA	0.642																																					p.A494T		Atlas-SNP	.											.	KLHL18	46	.	0			c.G1480A						PASS	.						83	84	84					3																	47385186		2203	4300	6503	SO:0001583	missense	23276	exon10			AGCATTGCCGAGA	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1480G>A	3.37:g.47385186G>A	ENSP00000232766:p.Ala494Thr	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	12	0.210526	NM_025010	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737796	0.89573	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.77489	-1.1;-1.1	5.06	5.06	0.68205	Galactose oxidase, beta-propeller (1);	0.056309	0.64402	D	0.000001	T	0.73513	0.3596	L	0.39633	1.23	0.80722	D	1	P	0.42161	0.772	B	0.40982	0.345	T	0.78145	-0.2318	10	0.87932	D	0	.	17.6032	0.88031	0.0:0.0:1.0:0.0	.	494	O94889	KLH18_HUMAN	T	494;382	ENSP00000232766:A494T;ENSP00000405585:A382T	ENSP00000232766:A494T	A	+	1	0	KLHL18	47360190	1.000000	0.71417	0.876000	0.34364	0.904000	0.53231	7.711000	0.84669	2.636000	0.89361	0.491000	0.48974	GCC	.	.	none		0.642	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		A	47385186	G	A	47385186	3	1	18	1	0	0	0	0	1	0	0	0	8373	1319	46	2	1518	2	KLHL18	3	47385186	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	5133609	47385186	150637244	51	4462										
GRM2	2912	hgsc.bcm.edu	37	chr3	51749480	51749480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccaggagtacatccgctgggGcgatgcctgggctgtgggac	17	11	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:51749480G>T	ENST00000395052.3	+	4	1925	c.1691G>T	c.(1690-1692)gGc>gTc	p.G564V	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	564					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCCGCTGGGGCGATGCCTGG	0.622																																					p.G564V		Atlas-SNP	.											GRM2,caecum,carcinoma,-1,1	GRM2	91	1	0			c.G1691T						PASS	.						48	44	45					3																	51749480		2202	4300	6502	SO:0001583	missense	2912	exon4			GCTGGGGCGATGC	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1691G>T	3.37:g.51749480G>T	ENSP00000378492:p.Gly564Val	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	75	18	0.24	NM_000839	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272267	0.23221	.	.	ENSG00000164082	ENST00000395052	D	0.89123	-2.47	5.3	4.43	0.53597	.	0.113989	0.64402	D	0.000013	D	0.83133	0.5188	L	0.43923	1.385	0.80722	D	1	B	0.20887	0.049	B	0.14023	0.01	T	0.78650	-0.2121	10	0.41790	T	0.15	.	9.2087	0.37304	0.2103:0.0:0.7897:0.0	.	564	Q14416	GRM2_HUMAN	V	564	ENSP00000378492:G564V	ENSP00000378492:G564V	G	+	2	0	GRM2	51724520	0.997000	0.39634	0.990000	0.47175	0.837000	0.47467	3.121000	0.50438	1.398000	0.46701	0.561000	0.74099	GGC	.	.	none		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			T	51749480	G	T	51749480	3	4	18	1	0	0	0	0	1	0	0	0	6797	1203	42	4	1701	4	GRM2	3	51749480	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	4364294	51749480	146272950	52	4463										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89499497	89499497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggaatcccggcagcctgaaGatcatcaccagtgcagccgc	11	15	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:89499497G>T	ENST00000336596.2	+	15	2892	c.2667G>T	c.(2665-2667)aaG>aaT	p.K889N	EPHA3_ENST00000494014.1_Missense_Mutation_p.K889N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	889					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.K889K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAGCCTGAAGATCATCACCA	0.438										TSP Lung(6;0.00050)																											p.K889N		Atlas-SNP	.											EPHA3,NS,carcinoma,0,1	EPHA3	501	1	1	Substitution - coding silent(1)	ovary(1)	c.G2667T						PASS	.						68	63	65					3																	89499497		2203	4300	6503	SO:0001583	missense	2042	exon15			CCTGAAGATCATC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2667G>T	3.37:g.89499497G>T	ENSP00000337451:p.Lys889Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	120	32	0.266667	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751796	0.49362	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62232	0.04;0.04	5.66	4.67	0.58626	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.72353	2.195	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.73043	-0.4107	9	.	.	.	.	3.6688	0.08266	0.3385:0.0:0.6615:0.0	.	889	P29320	EPHA3_HUMAN	N	889	ENSP00000337451:K889N;ENSP00000419190:K889N	.	K	+	3	2	EPHA3	89582187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.415000	0.52700	2.673000	0.90976	0.650000	0.86243	AAG	.	.	none		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89499497	G	T	89499497	3	4	18	1	0	0	0	0	1	0	0	0	5168	933	33	4	2751	4	EPHA3	3	89499497	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	37750017	89499497	108522933	53	4464										
ARL13B	200894	hgsc.bcm.edu	37	chr3	93768309	93768309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggaaccaccgggtagaaccaCttaatatagatgactgtgct	10	9	0	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:93768309C>G	ENST00000394222.3	+	8	1359	c.1084C>G	c.(1084-1086)Ctt>Gtt	p.L362V	ARL13B_ENST00000539730.1_Missense_Mutation_p.L83V|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.L362V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L255V|ARL13B_ENST00000535334.1_Missense_Mutation_p.L259V	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	362					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GGTAGAACCACTTAATATAGA	0.373																																					p.L362V		Atlas-SNP	.											.	ARL13B	52	.	0			c.C1084G						PASS	.						84	83	83					3																	93768309		2203	4300	6503	SO:0001583	missense	200894	exon8			GAACCACTTAATA	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1084C>G	3.37:g.93768309C>G	ENSP00000377769:p.Leu362Val	Somatic	420	0	0		WXS	Illumina HiSeq	Phase_I	416	92	0.221154	NM_182896	D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.484787	0.01027	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.62498	1.74;0.02;0.22;0.22;1.06	5.12	-1.85	0.07784	.	0.388487	0.26424	N	0.024448	T	0.24236	0.0587	N	0.03324	-0.35	0.53005	D	0.999964	B;B;B;B	0.10296	0.003;0.0;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.002;0.003	T	0.32877	-0.9890	10	0.02654	T	1	-4.0133	3.8052	0.08774	0.1835:0.3115:0.4052:0.0998	.	259;362;255;362	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	V	259;255;362;362;83	ENSP00000445145:L259V;ENSP00000306225:L255V;ENSP00000377769:L362V;ENSP00000420780:L362V;ENSP00000437977:L83V	ENSP00000306225:L255V	L	+	1	0	ARL13B	95250999	0.391000	0.25221	0.952000	0.39060	0.483000	0.33249	0.432000	0.21461	-0.084000	0.12595	-1.058000	0.02302	CTT	.	.	none		0.373	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		G	93768309	C	G	93768309	3	3	18	1	0	0	0	0	1	0	0	0	929	565	20	4	1114	4	ARL13B	3	93768309	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	4268812	93768309	104254121	54	4465										
CASR	846	hgsc.bcm.edu	37	chr3	122003487	122003487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgcgccgcagcaacgtctccCgcaagcggtccagcagcctt	11	17	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:122003487C>T	ENST00000490131.1	+	7	3058	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C	CASR_ENST00000498619.1_Missense_Mutation_p.R906C|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R896C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	896	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAACGTCTCCCGCAAGCGGTC	0.657																																					p.R906C		Atlas-SNP	.											CASR,colon,carcinoma,0,1	CASR	190	1	0			c.C2716T						PASS	.						30	31	31					3																	122003487		2203	4299	6502	SO:0001583	missense	846	exon7			GTCTCCCGCAAGC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2686C>T	3.37:g.122003487C>T	ENSP00000418685:p.Arg896Cys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	61	13	0.213115	NM_001178065	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288301	0.59976	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89810	-2.57;-2.57;-2.57	5.89	4.94	0.65067	.	0.051558	0.64402	D	0.000001	D	0.89469	0.6724	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;P	0.56088	0.791;0.791	D	0.90626	0.4563	10	0.87932	D	0	.	16.9209	0.86164	0.1363:0.8637:0.0:0.0	.	906;896	E7ENE0;P41180	.;CASR_HUMAN	C	896;906;896	ENSP00000418685:R896C;ENSP00000420194:R906C;ENSP00000296154:R896C	ENSP00000296154:R896C	R	+	1	0	CASR	123486177	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.573000	0.60893	2.793000	0.96121	0.561000	0.74099	CGC	.	.	none		0.657	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003487	C	T	122003487	3	4	18	1	0	0	0	0	1	0	0	0	2682	652	23	1	2738	1	CASR	3	122003487	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	28235178	122003487	76018943	55	4466										
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126747903	126747903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtcaccaccaagattgacaaCgattggaagaggctgaacac	10	10	1	4	rs369457038		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:126747903C>T	ENST00000393409.2	+	25	4737	c.4737C>T	c.(4735-4737)aaC>aaT	p.N1579N	PLXNA1_ENST00000251772.4_Silent_p.N1556N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1579					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGATTGACAACGATTGGAAGA	0.672																																					p.N1579N		Atlas-SNP	.											PLXNA1,NS,carcinoma,0,1	PLXNA1	185	1	0			c.C4737T						PASS	.	C		0,4406		0,0,2203	144	97	113		4737	-3.6	1	3		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1579/1897	126747903	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5361	exon25			TGACAACGATTGG	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4737C>T	3.37:g.126747903C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	46	15	0.326087	NM_032242		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			.	.	weak		0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126747903	C	T	126747903	2	4	18	1	0	0	0	0	0	0	0	1	12119	535	19	1		1	PLXNA1	3	126747903	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	4744416	126747903	71274527	56	4467										
AMOTL2	51421	hgsc.bcm.edu	37	chr3	134089710	134089710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtggggggccctgctggttgCgggccagctgtgggaagctg	21	9	0	0	rs554025750	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:134089710C>T	ENST00000422605.2	-	2	732	c.566G>A	c.(565-567)cGc>cAc	p.R189H	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R247H|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R189H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R189H			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	189					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCTGGTTGCGGGCCAGCTG	0.667													C|||	2	0.000399361	0.0	0.0029	5008	,	,		14670	0.0		0.0	False		,,,				2504	0.0				p.R189H		Atlas-SNP	.											.	AMOTL2	52	.	0			c.G566A						PASS	.						22	28	26					3																	134089710		2201	4295	6496	SO:0001583	missense	51421	exon2			TGGTTGCGGGCCA	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.566G>A	3.37:g.134089710C>T	ENSP00000409999:p.Arg189His	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	69	14	0.202899	NM_016201	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.015558	0.75161	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145;ENST00000510560	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	4.52	4.52	0.55395	.	0.281504	0.36066	N	0.002805	T	0.14184	0.0343	L	0.40543	1.245	0.41298	D	0.987023	P;P;P	0.37352	0.591;0.591;0.456	B;B;B	0.28139	0.086;0.086;0.039	T	0.08472	-1.0720	10	0.30078	T	0.28	-17.0703	17.6366	0.88124	0.0:1.0:0.0:0.0	.	189;189;247	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	H	189;189;247;189;189	ENSP00000249883:R189H;ENSP00000409999:R189H;ENSP00000424765:R247H;ENSP00000425475:R189H;ENSP00000427184:R189H	ENSP00000249883:R189H	R	-	2	0	AMOTL2	135572400	0.910000	0.30920	1.000000	0.80357	0.740000	0.42216	4.318000	0.59190	2.207000	0.71202	0.455000	0.32223	CGC	.	.	none		0.667	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		T	134089710	C	T	134089710	3	4	18	1	0	0	0	0	1	0	0	0	584	768	27	1	1812	1	AMOTL2	3	134089710	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	7341807	134089710	63932720	57	4468										
GPR149	344758	hgsc.bcm.edu	37	chr3	154139229	154139229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atgtgctattttataaatccCataacttttttggaatgata	5	5	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr3:154139229C>T	ENST00000389740.2	-	3	1321	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	408					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATAAATCCCATAACTTTTT	0.313																																					p.G408R		Atlas-SNP	.											.	GPR149	134	.	0			c.G1222A						PASS	.						41	39	40					3																	154139229		1801	4065	5866	SO:0001583	missense	344758	exon3			AAATCCCATAACT	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1222G>A	3.37:g.154139229C>T	ENSP00000374390:p.Gly408Arg	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	26	0.19403	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239708	0.79800	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81086	-0.1092	9	0.87932	D	0	-15.4694	17.8046	0.88598	0.0:1.0:0.0:0.0	.	408	Q86SP6	GP149_HUMAN	R	408	.	ENSP00000374390:G408R	G	-	1	0	GPR149	155621923	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.717000	0.74707	2.392000	0.81423	0.454000	0.30748	GGG	.	.	none		0.313	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154139229	C	T	154139229	3	4	18	1	0	0	0	0	1	0	0	0	6654	594	21	2	981	2	GPR149	3	154139229	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	20049519	154139229	43883201	58	4469										
ZNF141	7700	hgsc.bcm.edu	37	chr4	367062	367062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acataagagaattcatgctgGagagaaacccatcacatgtg	9	8	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:367062G>A	ENST00000240499.7	+	4	985	c.836G>A	c.(835-837)gGa>gAa	p.G279E	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	279					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATTCATGCTGGAGAGAAACCC	0.358																																					p.G279E		Atlas-SNP	.											.	ZNF141	48	.	0			c.G836A						PASS	.						73	83	80					4																	367062		2203	4300	6503	SO:0001583	missense	7700	exon4			ATGCTGGAGAGAA	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.836G>A	4.37:g.367062G>A	ENSP00000240499:p.Gly279Glu	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	118	24	0.20339	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183068	0.21870	.	.	ENSG00000131127	ENST00000240499	T	0.25749	1.78	1.23	-0.229	0.13094	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	L	0.39633	1.23	0.31083	N	0.711687	P	0.46020	0.871	P	0.47786	0.557	T	0.25152	-1.0140	8	.	.	.	.	5.6773	0.17755	0.0:0.0:0.6827:0.3173	.	279	Q15928	ZN141_HUMAN	E	279	ENSP00000240499:G279E	.	G	+	2	0	ZNF141	357062	0.755000	0.28372	0.043000	0.18650	0.306000	0.27790	0.515000	0.22801	-0.424000	0.07382	0.305000	0.20034	GGA	.	.	none		0.358	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367062	G	A	367062	3	1	18	1	0	0	0	0	1	0	0	0	17727	1174	41	2	850	2	ZNF141	4	367062	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		367062	190787214	59	4470										
ZNF721	170960	hgsc.bcm.edu	37	chr4	435533	435533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaattttcttatgtgcataaAgatttgcagactgtctaaag	8	5	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:435533A>G	ENST00000338977.5	-	2	2735	c.2687T>C	c.(2686-2688)cTt>cCt	p.L896P	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.L908P|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	896					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATGTGCATAAAGATTTGCAGA	0.368																																					p.I908T		Atlas-SNP	.											.	ZNF721	205	.	0			c.T2723C						PASS	.						62	65	64					4																	435533		2011	4220	6231	SO:0001583	missense	170960	exon3			GCATAAAGATTTG	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2687T>C	4.37:g.435533A>G	ENSP00000340524:p.Leu896Pro	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	135	38	0.281481	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	A	10.93	1.489800	0.26686	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.42900	0.96;0.96	0.539	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67325	0.2881	H	0.96430	3.82	0.09310	N	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.934;0.934;0.97	T	0.56347	-0.7994	9	0.72032	D	0.01	.	3.4437	0.07473	0.654:0.0:0.0:0.346	.	896;908;908	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	P	896;908	ENSP00000340524:L896P;ENSP00000428878:L908P	ENSP00000340524:L896P	L	-	2	0	ZNF721	425533	0.792000	0.28813	0.001000	0.08648	0.017000	0.09413	6.207000	0.72159	-0.660000	0.05352	0.172000	0.16884	CTT	.	.	none		0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		G	435533	A	G	435533	3	3	18	1	0	0	0	0	1	0	0	0	18119	72	3	3	52	3	ZNF721	4	435533	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	68471	435533	190718743	60	4471										
TADA2B	93624	hgsc.bcm.edu	37	chr4	7056150	7056150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccacgtggacatgtacgtgcGgaagctgaaagagagacagc	14	9	0	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:7056150G>A	ENST00000310074.7	+	2	821	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	TADA2B_ENST00000512388.1_Missense_Mutation_p.R136Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R119Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	211					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ATGTACGTGCGGAAGCTGAAA	0.582																																					p.R211Q		Atlas-SNP	.											TADA2B,rectum,carcinoma,-1,1	TADA2B	29	1	0			c.G632A						PASS	.						83	89	87					4																	7056150		2034	4200	6234	SO:0001583	missense	93624	exon2			ACGTGCGGAAGCT	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.632G>A	4.37:g.7056150G>A	ENSP00000308022:p.Arg211Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	81	22	0.271605	NM_152293	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277741	0.59758	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.44881	0.91;0.99;0.99;0.99;0.99	5.29	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.39633	1.23	0.80722	D	1	D;D	0.89917	1.0;0.975	D;B	0.70227	0.968;0.31	T	0.44590	-0.9318	10	0.24483	T	0.36	-38.7557	14.8658	0.70416	0.0:0.0:0.8552:0.1448	.	136;211	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	Q	119;211;136;119;119	ENSP00000422398:R119Q;ENSP00000308022:R211Q;ENSP00000423947:R136Q;ENSP00000423181:R119Q;ENSP00000425731:R119Q	ENSP00000308022:R211Q	R	+	2	0	TADA2B	7107051	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.325000	0.96381	1.163000	0.42636	0.561000	0.74099	CGG	.	.	none		0.582	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		A	7056150	G	A	7056150	3	1	18	1	0	0	0	0	1	0	0	0	15508	1116	39	1	638	1	TADA2B	4	7056150	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	6620617	7056150	184098126	61	4472										
LIMCH1	22998	hgsc.bcm.edu	37	chr4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccaatcccatgaaatacctgCggcaacagtcactgcctcca	6	16	1	1	rs143733086		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20033	0.001		0.0	False		,,,				2504	0.0				p.R490W		Atlas-SNP	.											LIMCH1_ENST00000503057,NS,carcinoma,0,1	LIMCH1	233	1	2	Substitution - Missense(2)	prostate(2)	c.C1468T						PASS	.						220	224	223					4																	41648713		2203	4300	6503	SO:0001583	missense	22998	exon12			TACCTGCGGCAAC	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1468C>T	4.37:g.41648713C>T	ENSP00000316891:p.Arg490Trp	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	150	8	0.0533333	NM_014988	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.78	3.697333	0.68386	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.94;1.15;1.1;1.16;0.94;1.16;0.52;0.49;0.52;0.94;0.94;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.982;0.982;0.987;0.995;0.996;0.997;0.995;0.999;0.997;0.999;0.997	T	0.72384	-0.4310	10	0.87932	D	0	-18.4384	13.7854	0.63105	0.2558:0.7442:0.0:0.0	.	241;324;490;324;336;875;319;478;490;490;490	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W	319;490;490;490;490;478;875;331;874;331;324;336;324	ENSP00000425222:R319W;ENSP00000424825:R490W;ENSP00000424645:R490W;ENSP00000316891:R490W;ENSP00000427045:R490W;ENSP00000424437:R478W;ENSP00000425631:R875W;ENSP00000421242:R331W;ENSP00000426334:R331W;ENSP00000422864:R324W;ENSP00000379840:R336W;ENSP00000371172:R324W	ENSP00000316891:R490W	R	+	1	2	LIMCH1	41343470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.662000	0.37418	2.675000	0.91044	0.591000	0.81541	CGG	C|1.000;T|0.000	0.000	strong		0.498	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		T	41648713	C	T	41648713	3	4	18	1	0	0	0	0	1	0	0	0	8797	759	27	1	1542	1	LIMCH1	4	41648713	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	34592563	41648713	149505563	62	4473										
UGT2B15	7367	hgsc.bcm.edu	37	chr4	69433904	69433904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aaaatgtattttttgaaataCtatatgtccatctatcgaac	4	6	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:69433904C>T	ENST00000317746.2	-	1	341	c.299G>A	c.(298-300)aGt>aAt	p.S100N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	100					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TTTTGAAATACTATATGTCCA	0.264																																					p.S100N	Melanoma(18;649 833 28984 37818 38500)	Atlas-SNP	.											.	UGT2B17	34	.	0			c.G299A						PASS	.						44	49	47					4																	69433904		2056	3898	5954	SO:0001583	missense	7367	exon1			GAAATACTATATG	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.299G>A	4.37:g.69433904C>T	ENSP00000320401:p.Ser100Asn	Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	366	88	0.240437	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	c	2.171	-0.389799	0.04932	.	.	ENSG00000197888	ENST00000317746	T	0.58940	0.3	2.41	1.19	0.21007	.	0.508000	0.17225	U	0.182199	T	0.24509	0.0594	N	0.02802	-0.49	0.09310	N	1	.	.	.	.	.	.	T	0.13495	-1.0507	8	0.22109	T	0.4	.	4.3641	0.11216	0.0:0.3431:0.0:0.6569	.	.	.	.	N	100	ENSP00000320401:S100N	ENSP00000320401:S100N	S	-	2	0	UGT2B17	69116499	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.888000	0.28268	0.205000	0.20568	-0.451000	0.05528	AGT	.	.	none		0.264	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		T	69433904	C	T	69433904	3	4	18	1	0	0	0	0	1	0	0	0	16955	565	20	2	1317	2	UGT2B15	4	69433904	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	27785191	69433904	121720372	63	4474										
NAA11	84779	hgsc.bcm.edu	37	chr4	80246356	80246356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	catgctctaggaggtggaatCcgagctttctgagctgtcct	12	10	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:80246356C>T	ENST00000286794.4	-	1	848	c.676G>A	c.(676-678)Gat>Aat	p.D226N	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	226					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAGGTGGAATCCGAGCTTTCT	0.527																																					p.D226N		Atlas-SNP	.											.	NAA11	43	.	0			c.G676A						PASS	.						59	60	60					4																	80246356		2081	4216	6297	SO:0001583	missense	84779	exon1			TGGAATCCGAGCT		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.676G>A	4.37:g.80246356C>T	ENSP00000286794:p.Asp226Asn	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	171	38	0.222222	NM_032693	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	6.267	0.417331	0.11870	.	.	ENSG00000156269	ENST00000286794	T	0.60040	0.22	4.95	0.0217	0.14130	.	0.589208	0.15884	N	0.239915	T	0.41949	0.1181	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.28530	T	0.3	-1.0315	5.6297	0.17504	0.0:0.4997:0.2646:0.2357	.	226	Q9BSU3	NAA11_HUMAN	N	226	ENSP00000286794:D226N	ENSP00000286794:D226N	D	-	1	0	NAA11	80465380	0.373000	0.25073	0.001000	0.08648	0.002000	0.02628	0.690000	0.25451	-0.135000	0.11495	0.655000	0.94253	GAT	.	.	none		0.527	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			T	80246356	C	T	80246356	3	4	18	1	0	0	0	0	1	0	0	0	10117	855	30	2	17	2	NAA11	4	80246356	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	10812452	80246356	110907920	64	4475										
GRID2	2895	hgsc.bcm.edu	37	chr4	94376873	94376873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atcgtgaaaatgtggtggacTttacgacacgttacatggac	11	7	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:94376873T>G	ENST00000282020.4	+	11	1864	c.1606T>G	c.(1606-1608)Ttt>Gtt	p.F536V	GRID2_ENST00000510992.1_Missense_Mutation_p.F441V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	536					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGTGGTGGACTTTACGACACG	0.433																																					p.F536V		Atlas-SNP	.											.	GRID2	233	.	0			c.T1606G						PASS	.						143	131	135					4																	94376873		2203	4300	6503	SO:0001583	missense	2895	exon11			GTGGACTTTACGA	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1606T>G	4.37:g.94376873T>G	ENSP00000282020:p.Phe536Val	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	184	47	0.255435	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913732	0.92178	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.54479	0.57;0.57	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.82761	0.5107	H	0.97516	4.02	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.997	D	0.88958	0.3391	10	0.87932	D	0	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	441;536	E9PH24;O43424	.;GRID2_HUMAN	V	536;441	ENSP00000282020:F536V;ENSP00000421257:F441V	ENSP00000282020:F536V	F	+	1	0	GRID2	94595896	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TTT	.	.	none		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			G	94376873	T	G	94376873	3	3	18	1	0	0	0	0	1	0	0	0	6772	1609	56	5	1648	5	GRID2	4	94376873	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	14130517	94376873	96777403	65	4476										
NHEDC2	133308	hgsc.bcm.edu	37	chr4	103966055	103966055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tatttctttcacctggtcacGgcttggaaagtactgaatga	9	8	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:103966055G>A	ENST00000394785.3	-	8	1619	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	SLC9B2_ENST00000339611.4_Missense_Mutation_p.R330C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.R273C|SLC9B2_ENST00000503230.1_Missense_Mutation_p.R273C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.R330C	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	330					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										ACCTGGTCACGGCTTGGAAAG	0.408																																					p.R330C		Atlas-SNP	.											NHEDC2,colon,carcinoma,+1,2	.	.	2	0			c.C988T						PASS	.						143	156	151					4																	103966055		2203	4300	6503	SO:0001583	missense	133308	exon8			GGTCACGGCTTGG	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.988C>T	4.37:g.103966055G>A	ENSP00000378265:p.Arg330Cys	Somatic	358	0	0		WXS	Illumina HiSeq	Phase_I	383	76	0.198433	NM_178833	B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076292	0.55753	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	5.03	-2.47	0.06442	.	1.386590	0.04153	N	0.321639	T	0.26991	0.0661	L	0.56199	1.76	0.23287	N	0.997975	D;D;B;D	0.64830	0.994;0.971;0.146;0.98	P;P;B;P	0.57244	0.816;0.697;0.04;0.553	T	0.29640	-1.0005	10	0.54805	T	0.06	-0.6348	4.0241	0.09678	0.1963:0.0649:0.4217:0.3172	.	273;273;330;330	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	C	330;230;330;330;273;273	ENSP00000354574:R330C;ENSP00000421943:R230C;ENSP00000345241:R330C;ENSP00000378265:R330C;ENSP00000425385:R273C;ENSP00000422477:R273C	ENSP00000345241:R330C	R	-	1	0	SLC9B2	104185504	0.504000	0.26123	0.964000	0.40570	0.872000	0.50106	0.737000	0.26144	-0.290000	0.09025	-0.671000	0.03813	CGT	.	.	none		0.408	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		A	103966055	G	A	103966055	3	1	18	1	0	0	0	0	1	0	0	0	10401	1116	39	1	645	1	NHEDC2	4	103966055	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9589182	103966055	87188221	66	4477										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811112	140811123	+	In_Frame_Del	DEL	TGCTGCTGCTGT	TGCTGCTGCTGT	-													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctgctgctgctgctgctgcTgctgctgctgttgctgttgc					rs62344938|rs62344939		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	TGCTGCTGCTGT	TGCTGCTGCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:140811112_140811123delTGCTGCTGCTGT	ENST00000509479.2	-	2	2323_2334	c.1467_1478delACAGCAGCAGCA	c.(1465-1479)caacagcagcagcag>cag	p.489_493QQQQQ>Q	MAML3_ENST00000398940.1_In_Frame_Del_p.28_32QQQQQ>Q|MAML3_ENST00000327122.5_In_Frame_Del_p.333_337QQQQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ctgctgctgctgctgctgctgttgctgttgct	0.547																																					p.490_493del		Atlas-Indel	.											.	MAML3	192	.	0			c.1468_1479del						PASS	.			852,3360		97,658,1351						1.5	1		dbSNP_130	17	2205,5999		132,1941,2029	no	coding	MAML3	NM_018717.4		229,2599,3380	A1A1,A1R,RR		26.8771,20.2279,24.6215				3057,9359				SO:0001651	inframe_deletion	55534	exon2			.	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467_1478delACAGCAGCAGCA	4.37:g.140811112_140811123delTGCTGCTGCTGT	ENSP00000421180:p.Gln505_Gln508del	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	120	23	0.191667	NM_018717		In_Frame_Del	DEL	ENST00000509479.2	37	CCDS54805.1																																																																																			.	.	alt		0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			-	140811123	TGCTGCTGCTGT	-	140811112	7	5	18	1	0	1	0	1	0	0	0	0	9207	1580	55	0	1946	0	MAML3	4	140811112	In_Frame_Del	DEL	TGCTGCTGCTGT	TCGA-FF-A7CR-01A-11D-A382-10	36845057	140811112	50343164	67	4478										
INPP4B	8821	hgsc.bcm.edu	37	chr4	143044563	143044563	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ataaaaccacaaaccaatccAgcaagctgaaaaaaaaatat	3	9	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:143044563A>C	ENST00000513000.1	-	21	2332	c.1899T>G	c.(1897-1899)gcT>gcG	p.A633A	INPP4B_ENST00000509777.1_Silent_p.A633A|INPP4B_ENST00000308502.4_Silent_p.A633A|INPP4B_ENST00000262992.4_Silent_p.A633A|INPP4B_ENST00000508116.1_Silent_p.A633A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	633					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAACCAATCCAGCAAGCTGAA	0.358																																					p.A633A		Atlas-SNP	.											.	INPP4B	132	.	0			c.T1899G						PASS	.						69	67	68					4																	143044563		2203	4300	6503	SO:0001819	synonymous_variant	8821	exon21			CAATCCAGCAAGC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1899T>G	4.37:g.143044563A>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	96	25	0.260417	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																			.	.	none		0.358	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		C	143044563	A	C	143044563	2	2	18	1	0	0	0	0	0	0	0	1	7753	175	7	5		5	INPP4B	4	143044563	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	2233451	143044563	48109713	68	4479										
HHIP	64399	hgsc.bcm.edu	37	chr4	145658962	145658962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggaggtgtctgtgttagaccGaacaagtgcctctgtaaaaa	12	7	2	1	rs35379077	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr4:145658962G>A	ENST00000296575.3	+	13	2611	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	652	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGTTAGACCGAACAAGTGCC	0.448																																					p.P652P		Atlas-SNP	.											.	HHIP	100	.	0			c.G1956A						PASS	.	G		0,4406		0,0,2203	145	123	131		1956	-10.8	0.2	4	dbSNP_126	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HHIP	NM_022475.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		652/701	145658962	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64399	exon13			TAGACCGAACAAG	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1956G>A	4.37:g.145658962G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	134	35	0.261194	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	CCDS3762.1																																																																																			G|1.000;A|0.000	0.000	strong		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145658962	G	A	145658962	2	1	18	1	0	0	0	0	0	0	0	1	7092	1045	37	1		1	HHIP	4	145658962	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	2614399	145658962	45495314	69	4480										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13845064	13845064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gggcaggatctgagacgaagAaaaaccgaggaaagcacagt	14	7	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:13845064A>G	ENST00000265104.4	-	32	5257	c.5153T>C	c.(5152-5154)tTc>tCc	p.F1718S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1718	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAGACGAAGAAAAACCGAGG	0.438									Kartagener syndrome																												p.F1718S		Atlas-SNP	.											DNAH5,scalp,malignant_melanoma,-1,1	DNAH5	868	1	0			c.T5153C						scavenged	.						76	78	77					5																	13845064		2203	4300	6503	SO:0001583	missense	1767	exon32	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ACGAAGAAAAACC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5153T>C	5.37:g.13845064A>G	ENSP00000265104:p.Phe1718Ser	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	82	28	0.341463	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068037	0.76301	.	.	ENSG00000039139	ENST00000265104	T	0.65549	-0.16	4.85	4.85	0.62838	Dynein heavy chain, domain-2 (1);	0.052439	0.85682	D	0.000000	D	0.84822	0.5557	H	0.97707	4.06	0.80722	D	1	P	0.42735	0.788	P	0.58013	0.831	D	0.89587	0.3825	10	0.87932	D	0	.	14.5198	0.67842	1.0:0.0:0.0:0.0	.	1718	Q8TE73	DYH5_HUMAN	S	1718	ENSP00000265104:F1718S	ENSP00000265104:F1718S	F	-	2	0	DNAH5	13898064	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.141000	0.94612	1.840000	0.53500	0.529000	0.55759	TTC	.	.	none		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		G	13845064	A	G	13845064	3	3	18	1	0	0	0	0	1	0	0	0	4604	246	9	2	8913	2	DNAH5	5	13845064	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10		13845064	167070196	70	4481										
SLC45A2	51151	hgsc.bcm.edu	37	chr5	33964023	33964023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agtgagcaccaatgcagagaAgaagaacatgacctggaatt	11	7	0	5			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:33964023A>C	ENST00000296589.4	-	3	807	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	SLC45A2_ENST00000382102.3_Missense_Mutation_p.F221V|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.F162V|SLC45A2_ENST00000509381.1_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	221			Missing (in OCA4). {ECO:0000269|PubMed:14722913}.		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(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATGCAGAGAAGAAGAACATG	0.498																																					p.F221V	Ovarian(31;380 859 8490 22203 49048)	Atlas-SNP	.											.	SLC45A2	100	.	0			c.T661G						PASS	.						112	109	110					5																	33964023		2203	4300	6503	SO:0001583	missense	51151	exon3			CAGAGAAGAAGAA	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.661T>G	5.37:g.33964023A>C	ENSP00000296589:p.Phe221Val	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	125	23	0.184	NM_016180	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579386	0.86645	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;T;D;D	0.92495	-3.05;-1.29;-3.05;-3.05	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);	0.045176	0.85682	D	0.000000	D	0.94663	0.8279	M	0.75884	2.315	0.80722	D	1	P;B	0.50066	0.931;0.443	P;B	0.59115	0.852;0.326	D	0.93153	0.6551	10	0.22706	T	0.39	-18.1182	15.3582	0.74443	1.0:0.0:0.0:0.0	.	221;221	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	V	221;162;221;46	ENSP00000296589:F221V;ENSP00000341014:F162V;ENSP00000371534:F221V;ENSP00000424010:F46V	ENSP00000296589:F221V	F	-	1	0	SLC45A2	33999780	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.984000	0.63838	2.270000	0.75569	0.460000	0.39030	TTC	.	.	none		0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		C	33964023	A	C	33964023	3	2	18	1	0	0	0	0	1	0	0	0	14641	72	3	5	966	5	SLC45A2	5	33964023	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	20118959	33964023	146951237	71	4482										
PLK2	10769	hgsc.bcm.edu	37	chr5	57755718	57755718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gagtccgctccgcaacccttGcccagcgcctgctcgcacat	9	19	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:57755718G>A	ENST00000274289.3	-	1	369	c.69C>T	c.(67-69)ggC>ggT	p.G23G	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	23					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGCAACCCTTGCCCAGCGCCT	0.697																																					p.G23G		Atlas-SNP	.											.	PLK2	71	.	0			c.C69T						PASS	.						18	21	20					5																	57755718		2203	4294	6497	SO:0001819	synonymous_variant	10769	exon1			ACCCTTGCCCAGC		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.69C>T	5.37:g.57755718G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	151	29	0.192053	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			.	.	none		0.697	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		A	57755718	G	A	57755718	2	1	18	1	0	0	0	0	0	0	0	1	12096	1306	46	2		2	PLK2	5	57755718	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	23791695	57755718	123159542	72	4483										
MAST4	375449	hgsc.bcm.edu	37	chr5	66462402	66462402	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctgagctgctcctccagcttCcctgaaaccagggccggagt	11	15	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:66462402C>T	ENST00000403625.2	+	29	7690	c.7395C>T	c.(7393-7395)ttC>ttT	p.F2465F	MAST4_ENST00000405643.1_Silent_p.F2286F|MAST4_ENST00000403666.1_Silent_p.F2276F|MAST4_ENST00000404260.3_Silent_p.F2468F|MAST4_ENST00000261569.7_Silent_p.F2271F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2468						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTCCAGCTTCCCTGAAACCA	0.632											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F2465F		Atlas-SNP	.											.	MAST4	218	.	0			c.C7395T						PASS	.						17	21	20					5																	66462402		2005	4179	6184	SO:0001819	synonymous_variant	375449	exon29			CAGCTTCCCTGAA	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7395C>T	5.37:g.66462402C>T		Somatic	99	0	0	1092	WXS	Illumina HiSeq	Phase_I	136	36	0.264706	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	2.439	-0.328963	0.05314	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.94	-2.72	0.05968	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.44207	D	0.997031	.	.	.	.	.	.	T	0.57046	-0.7878	4	.	.	.	-8.1125	12.3345	0.55058	0.0:0.7809:0.0:0.2191	.	.	.	.	S	1522	.	.	P	+	1	0	MAST4	66498158	0.030000	0.19436	0.223000	0.23860	0.279000	0.26890	0.023000	0.13533	-0.391000	0.07763	-0.379000	0.06801	CCC	.	.	none		0.632	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66462402	C	T	66462402	2	4	18	1	0	0	0	0	0	0	0	1	9327	854	30	2		2	MAST4	5	66462402	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	8706684	66462402	114452858	73	4484										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950724	79950724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggctgcagcggccgcagcgGccgcagcgcccccagcgccc	15	21	0	0	rs70991168|rs2001675	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:79950724G>C	ENST00000265081.6	+	1	258	c.178G>C	c.(178-180)Gcc>Ccc	p.A60P	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	60	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggccgcagcggccgcagcgCC	0.706								Mismatch excision repair (MMR)					G|||	104	0.0207668	0.0703	0.0086	5008	,	,		6209	0.001		0.003	False		,,,				2504	0.001				p.A60P	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.G178C						PASS	.						5	6	6					5																	79950724		2048	3971	6019	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.178G>C	5.37:g.79950724G>C	ENSP00000265081:p.Ala60Pro	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	58	14	0.241379	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	386	0.17673992673992675	112	0.22764227642276422	76	0.20994475138121546	57	0.09965034965034965	141	0.18601583113456466	G	4.951	0.176580	0.09443	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	2.67	-0.189	0.13260	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.25667	0.131	B	0.26517	0.07	T	0.01956	-1.1240	7	.	.	.	.	8.8041	0.34927	0.0:0.0:0.6183:0.3817	rs2001675;rs2405878;rs13182328	60	P20585	MSH3_HUMAN	P	60	ENSP00000265081:A60P	.	A	+	1	0	MSH3	79986480	0.010000	0.17322	0.501000	0.27601	0.264000	0.26372	-0.184000	0.09698	-0.480000	0.06803	0.000000	0.15137	GCC	G|0.824;C|0.176	0.176	strong		0.706	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950724	G	C	79950724	3	2	18	1	0	0	0	0	1	0	0	0	9871	1203	42	4	180	4	MSH3	5	79950724	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	13488322	79950724	100964536	74	4485										
GIN1	54826	hgsc.bcm.edu	37	chr5	102442522	102442522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctccactgtcattttcatgGcattctcttaagactttctt	5	11	4	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:102442522G>A	ENST00000399004.2	-	3	325	c.231C>T	c.(229-231)tgC>tgT	p.C77C	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Silent_p.C77C	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	77					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)		CATTTTCATGGCATTCTCTTA	0.353																																					p.C77C		Atlas-SNP	.											.	GIN1	53	.	0			c.C231T						PASS	.						103	95	98					5																	102442522		1844	4092	5936	SO:0001819	synonymous_variant	54826	exon3			TTCATGGCATTCT	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.231C>T	5.37:g.102442522G>A		Somatic	430	0	0		WXS	Illumina HiSeq	Phase_I	492	31	0.0630081	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Silent	SNP	ENST00000399004.2	37	CCDS43349.1																																																																																			.	.	none		0.353	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		A	102442522	G	A	102442522	2	1	18	1	0	0	0	0	0	0	0	1	6386	1195	42	2		2	GIN1	5	102442522	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	22491798	102442522	78472738	75	4486										
MCC	4163	hgsc.bcm.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	15	20	0	0	rs199741976		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																					p.G20S		Atlas-SNP	.											MCC_ENST00000408903,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	MCC	234	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.G58A						scavenged	.						5	7	7					5																	112824054		1172	2822	3994	SO:0001583	missense	4163	exon1			TGCCGCCGCCGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser	Somatic	21	3	0.142857		WXS	Illumina HiSeq	Phase_I	58	13	0.224138	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC	.	.	weak		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		T	112824054	C	T	112824054	3	4	18	1	0	0	0	0	1	0	0	0	9373	652	23	1	3138	1	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	10381532	112824054	68091206	76	4487										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140554142	140554142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccgcgccctgcaccgagccgTtgccccgggcggccgagccg	15	20	0	0	rs13174866		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:140554142T>G	ENST00000231137.3	+	1	1900	c.1726T>G	c.(1726-1728)Ttg>Gtg	p.L576V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	576	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> V (in dbSNP:rs13174866).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L576V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGAGCCGTTGCCCCGGGC	0.706																																					p.L576V		Atlas-SNP	.											PCDHB7,NS,carcinoma,0,1	PCDHB7	231	1	1	Substitution - Missense(1)	prostate(1)	c.T1726G						scavenged	.						31	41	37					5																	140554142		2147	4229	6376	SO:0001583	missense	56129	exon1			GAGCCGTTGCCCC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1726T>G	5.37:g.140554142T>G	ENSP00000231137:p.Leu576Val	Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	56	4	0.0714286	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.992149	0.00439	.	.	ENSG00000113212	ENST00000231137	T	0.62498	0.02	4.3	-0.0538	0.13816	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28632	0.0709	N	0.01789	-0.72	0.26682	N	0.971522	B	0.06786	0.001	B	0.12156	0.007	T	0.27400	-1.0075	9	0.02654	T	1	.	10.3392	0.43868	0.0:0.4572:0.3179:0.2249	rs13174866;rs17844470	576	Q9Y5E2	PCDB7_HUMAN	V	576	ENSP00000231137:L576V	ENSP00000231137:L576V	L	+	1	2	PCDHB7	140534326	0.880000	0.30214	0.995000	0.50966	0.341000	0.28922	0.694000	0.25512	-0.325000	0.08577	-1.785000	0.00643	TTG	T|1.000;|0.000	.	weak		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		G	140554142	T	G	140554142	3	3	18	1	0	0	0	0	1	0	0	0	11547	1722	60	5	1728	5	PCDHB7	5	140554142	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	27730088	140554142	40361118	77	4488										
NDST1	3340	hgsc.bcm.edu	37	chr5	149901306	149901306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agtactgtgtggcctacggcGtgggcatcattggcttcttc	13	10	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr5:149901306G>A	ENST00000261797.6	+	2	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	164	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542																																					p.V164M		Atlas-SNP	.											.	NDST1	79	.	0			c.G490A						PASS	.						89	90	90					5																	149901306		2203	4300	6503	SO:0001583	missense	3340	exon2			TACGGCGTGGGCA	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.490G>A	5.37:g.149901306G>A	ENSP00000261797:p.Val164Met	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	31	9	0.290323	NM_001543	Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949559	0.92660	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.58210	0.35;0.69	4.96	4.96	0.65561	.	0.185114	0.46145	D	0.000313	T	0.77883	0.4197	M	0.91612	3.225	0.80722	D	1	D;D;D	0.64830	0.994;0.984;0.994	D;P;D	0.65010	0.931;0.704;0.931	T	0.82653	-0.0351	9	.	.	.	.	18.7747	0.91907	0.0:0.0:1.0:0.0	.	164;164;164	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	M	164	ENSP00000428604:V164M;ENSP00000261797:V164M	.	V	+	1	0	NDST1	149881499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.539000	0.98076	2.733000	0.93635	0.655000	0.94253	GTG	.	.	none		0.542	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		A	149901306	G	A	149901306	3	1	18	1	0	0	0	0	1	0	0	0	10255	1145	40	1	492	1	NDST1	5	149901306	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9347164	149901306	31013954	78	4489										
IRF4	3662	hgsc.bcm.edu	37	chr6	393318	393318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttccgcatcccctggaagCacgcgggcaagcaggactac	11	15	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:393318C>T	ENST00000380956.4	+	2	292	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	56					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCCCTGGAAGCACGCGGGCAA	0.687			T	IGH@	MM																																p.H56Y		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C166T						PASS	.						32	30	30					6																	393318		2202	4299	6501	SO:0001583	missense	3662	exon2			TGGAAGCACGCGG	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.166C>T	6.37:g.393318C>T	ENSP00000370343:p.His56Tyr	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	101	20	0.19802	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080588	0.94050	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98493	-4.96	4.58	4.58	0.56647	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.092628	0.85682	D	0.000000	D	0.99272	0.9746	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98982	1.0805	10	0.87932	D	0	-31.5343	17.6301	0.88104	0.0:1.0:0.0:0.0	.	56;56;56	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	Y	56;86	ENSP00000370343:H56Y	ENSP00000370343:H56Y	H	+	1	0	IRF4	338318	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.954000	0.76001	2.399000	0.81585	0.306000	0.20318	CAC	.	.	none		0.687	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			T	393318	C	T	393318	3	4	18	1	0	0	0	0	1	0	0	0	7832	710	25	2	168	2	IRF4	6	393318	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10		393318	170721749	79	4490										
FOXC1	2296	hgsc.bcm.edu	37	chr6	1610903	1610903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgccgcagccgcagcccaagGacatggtgaagccgccctat	12	16	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:1610903G>A	ENST00000380874.2	+	1	223	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	75				QPQPKDMV -> RSRSPRHG (in Ref. 5; AAK13575). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGCCCAAGGACATGGTGAA	0.652																																					p.D75N	Pancreas(133;719 1821 3197 26645 35015)	Atlas-SNP	.											.	FOXC1	19	.	0			c.G223A						PASS	.						46	48	47					6																	1610903		2203	4300	6503	SO:0001583	missense	2296	exon1			CCCAAGGACATGG	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.223G>A	6.37:g.1610903G>A	ENSP00000370256:p.Asp75Asn	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	47	13	0.276596	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901869	0.92035	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.93076	-3.16	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.41500	U	0.000880	D	0.95465	0.8527	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96071	0.9046	10	0.72032	D	0.01	.	15.7496	0.77972	0.0:0.0:1.0:0.0	.	75	Q12948	FOXC1_HUMAN	N	75	ENSP00000370256:D75N	ENSP00000370256:D75N	D	+	1	0	FOXC1	1555902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.589000	0.90817	1.842000	0.53543	0.457000	0.33378	GAC	.	.	none		0.652	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			A	1610903	G	A	1610903	3	1	18	1	0	0	0	0	1	0	0	0	5994	1174	41	2	225	2	FOXC1	6	1610903	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1217585	1610903	169504164	80	4491										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056463	26056463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	catagccggcggcagccaacGcttttttcagagcagccaga	11	13	1	2	rs79562358		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:26056463G>A	ENST00000343677.2	-	1	236	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	65	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGCAGCCAACGCTTTTTTCAG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15415	0.0		0.0	False		,,,				2504	0.0				p.A65V		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.C194T						PASS	.	G	VAL/ALA	0,4406		0,0,2203	82	91	88		194	5.7	1	6	dbSNP_131	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	HIST1H1C	NM_005319.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	65/214	26056463	1,13005	2203	4300	6503	SO:0001583	missense	3006	exon1			GCCAACGCTTTTT	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.194C>T	6.37:g.26056463G>A	ENSP00000339566:p.Ala65Val	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	182	72	0.395604	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.31	3.594901	0.66219	0.0	1.16E-4	ENSG00000187837	ENST00000343677	T	0.22134	1.97	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.111844	0.64402	D	0.000013	T	0.39036	0.1063	M	0.85099	2.735	0.58432	D	0.999992	D	0.62365	0.991	P	0.55667	0.781	T	0.27806	-1.0063	10	0.51188	T	0.08	-17.4652	19.2479	0.93909	0.0:0.0:1.0:0.0	.	65	P16403	H12_HUMAN	V	65	ENSP00000339566:A65V	ENSP00000339566:A65V	A	-	2	0	HIST1H1C	26164442	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	5.446000	0.66600	2.861000	0.98227	0.655000	0.94253	GCG	G|0.999;A|0.001	0.001	strong		0.562	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		A	26056463	G	A	26056463	3	1	18	1	0	0	0	0	1	0	0	0	7124	1087	38	1	451	1	HIST1H1C	6	26056463	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	24445560	26056463	145058604	81	4492										
HIST1H4K	8362	hgsc.bcm.edu	37	chr6	27799065	27799065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cacatccatggcggtgaccgTcttgcgcttggcgtgctctg	13	13	2	1	rs561516608	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:27799065T>C	ENST00000357549.2	-	1	240	c.241A>G	c.(241-243)Acg>Gcg	p.T81A		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	81					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCGGTGACCGTCTTGCGCTTG	0.607																																					p.T81A		Atlas-SNP	.											.	HIST1H4K	15	.	0			c.A241G						PASS	.						24	27	26					6																	27799065		2199	4276	6475	SO:0001583	missense	8362	exon1			TGACCGTCTTGCG	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.241A>G	6.37:g.27799065T>C	ENSP00000350159:p.Thr81Ala	Somatic	353	1	0.00283286		WXS	Illumina HiSeq	Phase_I	341	128	0.375367	NM_003541	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.910440	0.92107	.	.	ENSG00000197914	ENST00000357549	T	0.78003	-1.14	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000047	T	0.78824	0.4344	.	.	.	0.36651	D	0.877411	.	.	.	.	.	.	T	0.82376	-0.0488	7	0.62326	D	0.03	.	12.857	0.57890	0.0:0.0:0.0:1.0	.	.	.	.	A	81	ENSP00000350159:T81A	ENSP00000350159:T81A	T	-	1	0	HIST1H4K	27907044	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	7.204000	0.77872	1.679000	0.50963	0.528000	0.53228	ACG	.	.	none		0.607	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		C	27799065	T	C	27799065	3	2	18	1	0	0	0	0	1	0	0	0	7175	1667	58	2	74	2	HIST1H4K	6	27799065	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	1742602	27799065	143316002	82	4493										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138355	37138355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acatcctggaggttgggatgCtcttgtccaaaatcaactcg	10	10	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138355C>T	ENST00000373509.5	+	1	377	c.4C>T	c.(4-6)Ctc>Ttc	p.L2F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	93					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.L2V(1)|p.L2F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGTTGGGATGCTCTTGTCCAA	0.701			T	BCL6	NHL																																p.L93F		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,3	PIM1	71	3	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C277T						PASS	.						30	30	30					6																	37138355		2201	4298	6499	SO:0001583	missense	5292	exon1			GGGATGCTCTTGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.4C>T	6.37:g.37138355C>T	ENSP00000362608:p.Leu2Phe	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	64	19	0.296875	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693535	0.88735	.	.	ENSG00000137193	ENST00000373509	T	0.71222	-0.55	4.05	4.05	0.47172	.	0.000000	0.32147	N	0.006517	T	0.61899	0.2384	N	0.08118	0	0.48830	D	0.999711	D	0.76494	0.999	D	0.66196	0.942	T	0.73933	-0.3826	10	0.72032	D	0.01	.	16.7252	0.85419	0.0:1.0:0.0:0.0	.	93	P11309	PIM1_HUMAN	F	2	ENSP00000362608:L2F	ENSP00000362608:L2F	L	+	1	0	PIM1	37246333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.672000	0.61597	2.211000	0.71520	0.542000	0.68232	CTC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138355	C	T	37138355	3	4	18	1	0	0	0	0	1	0	0	0	11927	797	28	2	6	2	PIM1	6	37138355	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	9339290	37138355	133976712	83	4494			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37138380	37138380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtccaaaatcaactcgcttgCccacctgcgcgccgcgccct	8	19	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138380C>T	ENST00000373509.5	+	1	402	c.29C>T	c.(28-30)gCc>gTc	p.A10V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	101					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AACTCGCTTGCCCACCTGCGC	0.731			T	BCL6	NHL																																p.A101V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	0			c.C302T						scavenged	.						30	31	31					6																	37138380		2202	4297	6499	SO:0001583	missense	5292	exon1			CGCTTGCCCACCT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.29C>T	6.37:g.37138380C>T	ENSP00000362608:p.Ala10Val	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	65	8	0.123077	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223561	0.58668	.	.	ENSG00000137193	ENST00000373509	T	0.69806	-0.43	4.2	4.2	0.49525	.	0.229124	0.22580	N	0.058236	T	0.33206	0.0855	N	0.08118	0	0.45439	D	0.998418	P	0.40834	0.73	B	0.34779	0.189	T	0.49579	-0.8925	10	0.52906	T	0.07	.	17.0668	0.86561	0.0:1.0:0.0:0.0	.	101	P11309	PIM1_HUMAN	V	10	ENSP00000362608:A10V	ENSP00000362608:A10V	A	+	2	0	PIM1	37246358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.592000	0.46171	2.289000	0.77006	0.542000	0.68232	GCC	.	.	none		0.731	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138380	C	T	37138380	3	4	18	1	0	0	0	0	1	0	0	0	11927	739	26	2	31	2	PIM1	6	37138380	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	25	37138380	133976687	84	4495			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37138420	37138420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgcaacgacctgcacgccacCaagctggcgcccggtgagag	13	15	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138420C>T	ENST00000373509.5	+	1	442	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	114					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGCACGCCACCAAGCTGGCGC	0.731			T	BCL6	NHL																																p.T114T		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C342T						PASS	.						23	26	25					6																	37138420		2198	4290	6488	SO:0001819	synonymous_variant	5292	exon1			CGCCACCAAGCTG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.69C>T	6.37:g.37138420C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	66	26	0.393939	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.731	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138420	C	T	37138420	2	4	18	1	0	0	0	0	0	0	0	1	11927	581	21	2		2	PIM1	6	37138420	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	40	37138420	133976647	85	4496			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37138625	37138625	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggcggcttcggctcggtctaCtcaggcatccgcgtctccga	13	15	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138625C>G	ENST00000373509.5	+	2	532	c.159C>G	c.(157-159)taC>taG	p.Y53*		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	144					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.Y53Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCTCGGTCTACTCAGGCATCC	0.721			T	BCL6	NHL																																p.Y144X		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,carcinoma,+2,2	PIM1	71	2	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C432G						PASS	.						20	29	26					6																	37138625		2183	4281	6464	SO:0001587	stop_gained	5292	exon2			GGTCTACTCAGGC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.159C>G	6.37:g.37138625C>G	ENSP00000362608:p.Tyr53*	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Nonsense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	39	7.820184	0.98507	.	.	ENSG00000137193	ENST00000373509	.	.	.	4.64	3.49	0.39957	.	0.347466	0.27618	N	0.018561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3647	0.32380	0.0:0.7776:0.0:0.2224	.	.	.	.	X	53	.	ENSP00000362608:Y53X	Y	+	3	2	PIM1	37246603	0.705000	0.27846	0.996000	0.52242	0.994000	0.84299	0.438000	0.21559	2.294000	0.77228	0.549000	0.68633	TAC	.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			G	37138625	C	G	37138625	4	3	18	1	0	0	0	0	0	1	0	0	11927	576	20	4	165	4	PIM1	6	37138625	Nonsense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	205	37138625	133976442	86	4497			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37138901	37138901	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggccccctcgcccctgcagCctaatggcactcgagtgccc	10	20	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138901C>A	ENST00000373509.5	+	4	614	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	172					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCCCCTGCAGCCTAATGGCAC	0.667			T	BCL6	NHL																																p.P172T		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C514A						PASS	.						45	52	50					6																	37138901		2203	4299	6502	SO:0001630	splice_region_variant	5292	exon4			CTGCAGCCTAATG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.241-1C>A	6.37:g.37138901C>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	52	28	0.538462	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977235	0.34848	.	.	ENSG00000137193	ENST00000373509	T	0.62941	-0.01	4.28	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.230218	0.35525	N	0.003156	T	0.33673	0.0871	L	0.28608	0.87	0.41062	D	0.98538	B	0.10296	0.003	B	0.11329	0.006	T	0.15521	-1.0434	9	.	.	.	.	15.0358	0.71744	0.0:1.0:0.0:0.0	.	172	P11309	PIM1_HUMAN	T	81	ENSP00000362608:P81T	.	P	+	1	0	PIM1	37246879	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.378000	0.59568	2.371000	0.80710	0.549000	0.68633	CCT	.	.	none		0.667	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		Missense_Mutation	A	37138901	C	A	37138901	5	1	18	1	0	0	0	0	0	0	1	0	11927	753	26	4	255	4	PIM1	6	37138901	Splice_Site	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	276	37138901	133976166	87	4498			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37138946	37138946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aagtggtcctgctgaagaagGtgagctcgggtttctccggc	15	9	1	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37138946G>A	ENST00000373509.5	+	4	659	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	187					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCTGAAGAAGGTGAGCTCGGG	0.652			T	BCL6	NHL																																p.V187M		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G559A						PASS	.						80	89	86					6																	37138946		2203	4300	6503	SO:0001583	missense	5292	exon4			AAGAAGGTGAGCT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.286G>A	6.37:g.37138946G>A	ENSP00000362608:p.Val96Met	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	58	18	0.310345	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518058	0.85495	.	.	ENSG00000137193	ENST00000373509	T	0.66638	-0.22	4.14	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.077156	0.51477	D	0.000084	T	0.54191	0.1843	N	0.25426	0.745	0.54753	D	0.999985	P	0.37015	0.578	P	0.46076	0.503	T	0.65327	-0.6195	10	0.87932	D	0	.	16.5618	0.84568	0.0:0.0:1.0:0.0	.	187	P11309	PIM1_HUMAN	M	96	ENSP00000362608:V96M	ENSP00000362608:V96M	V	+	1	0	PIM1	37246924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.549000	0.98106	2.283000	0.76528	0.549000	0.68633	GTG	.	.	none		0.652	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138946	G	A	37138946	3	1	18	1	0	0	0	0	1	0	0	0	11927	1261	44	2	300	2	PIM1	6	37138946	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	45	37138946	133976121	88	4499			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37139038	37139038	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctggagaggcccgagccggtGcaagatctcttcgacttcat	12	12	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37139038G>T	ENST00000373509.5	+	4	751	c.378G>T	c.(376-378)gtG>gtT	p.V126V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	217					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCGAGCCGGTGCAAGATCTCT	0.617			T	BCL6	NHL																																p.V217V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G651T						PASS	.						80	94	89					6																	37139038		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			GCCGGTGCAAGAT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.378G>T	6.37:g.37139038G>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	87	12	0.137931	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.617	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37139038	G	T	37139038	2	4	18	1	0	0	0	0	0	0	0	1	11927	1306	46	4		4	PIM1	6	37139038	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	92	37139038	133976029	89	4500			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37139191	37139191	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaaaacatccttatcgacctCaatcgcggcgagctcaagct	8	13	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37139191C>T	ENST00000373509.5	+	4	904	c.531C>T	c.(529-531)ctC>ctT	p.L177L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTATCGACCTCAATCGCGGCG	0.637			T	BCL6	NHL																																p.L268L		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C804T						PASS	.						37	38	37					6																	37139191		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			CGACCTCAATCGC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.531C>T	6.37:g.37139191C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	90	28	0.311111	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.637	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37139191	C	T	37139191	2	4	18	1	0	0	0	0	0	0	0	1	11927	813	29	2		2	PIM1	6	37139191	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	153	37139191	133975876	90	4501			2	26		9	9	2513	N	G_C_A	2.231762e-19
PIM1	5292	hgsc.bcm.edu	37	chr6	37140867	37140867	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggggatcctgctgtatgatAtggtgtgtggagatattcct	14	5	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:37140867A>T	ENST00000373509.5	+	5	1076	c.703A>T	c.(703-705)Atg>Ttg	p.M235L	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCTGTATGATATGGTGTGTGG	0.552			T	BCL6	NHL																																p.M326L		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,trunk,malignant_melanoma,-2,1	PIM1	71	1	0			c.A976T						PASS	.						143	132	136					6																	37140867		2203	4300	6503	SO:0001583	missense	5292	exon5			TATGATATGGTGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.703A>T	6.37:g.37140867A>T	ENSP00000362608:p.Met235Leu	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	155	80	0.516129	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	A	35	5.493129	0.96339	.	.	ENSG00000137193	ENST00000373509	T	0.10573	2.86	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042575	0.85682	D	0.000000	T	0.03390	0.0098	N	0.04387	-0.21	0.54753	D	0.999985	P	0.34934	0.476	B	0.40101	0.319	T	0.48937	-0.8990	10	0.49607	T	0.09	.	14.5991	0.68427	1.0:0.0:0.0:0.0	.	326	P11309	PIM1_HUMAN	L	235	ENSP00000362608:M235L	ENSP00000362608:M235L	M	+	1	0	PIM1	37248845	1.000000	0.71417	0.945000	0.38365	0.975000	0.68041	8.930000	0.92872	2.149000	0.67028	0.482000	0.46254	ATG	.	.	none		0.552	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37140867	A	T	37140867	3	4	18	1	0	0	0	0	1	0	0	0	11927	449	16	5	721	5	PIM1	6	37140867	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1676	37140867	133974200	91	4502			2	26		9	9	2513	N	G_C_A	2.231762e-19
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138200459	138200460	+	Frame_Shift_Del	DEL	TG	TG	-													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aaacaagggcttttgcacacTgtgtttcatcgagtacagag							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:138200459_138200460delTG	ENST00000237289.4	+	7	1943_1944	c.1877_1878delTG	c.(1876-1878)ctgfs	p.L626fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	626	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C627fs*44(1)|p.L626fs*45(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTTGCACACTGTGTTTCATCG	0.51			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.626_626del	GBM(130;153 1739 22295 28918 47987)	Atlas-Indel	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	27	Whole gene deletion(25)|Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(27)	c.1876_1877del						PASS	.																																			SO:0001589	frameshift_variant	7128	exon7			.	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1877_1878delTG	6.37:g.138200461_138200462delTG	ENSP00000237289:p.Leu626fs	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	91	17	0.186813	NM_001270508	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	ENST00000237289.4	37	CCDS5187.1																																																																																			.	.	none		0.51	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			-	138200460	TG	-	138200459	7	5	18	1	0	1	0	1	0	0	0	0	16271	1580	55	0	1899	0	TNFAIP3	6	138200459	Frame_Shift_Del	DEL	TG	TCGA-FF-A7CR-01A-11D-A382-10	101059592	138200459	32914608	92	4503										
PARK2	5071	hgsc.bcm.edu	37	chr6	162206824	162206824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccacacaaggcagggagtagCcaagttgagggtcgtgaaca	14	9	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr6:162206824C>G	ENST00000366898.1	-	7	953	c.851G>C	c.(850-852)gGc>gCc	p.G284A	PARK2_ENST00000366897.1_Missense_Mutation_p.G256A|PARK2_ENST00000366896.1_Missense_Mutation_p.G135A|PARK2_ENST00000366894.1_Missense_Mutation_p.G93A|PARK2_ENST00000338468.3_Missense_Mutation_p.G93A|PARK2_ENST00000366892.1_Missense_Mutation_p.G284A	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	284	SYT11 binding 2.		G -> R (in PARK2).		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGGGAGTAGCCAAGTTGAGG	0.433																																					p.G284A		Atlas-SNP	.											.	PARK2	96	.	0			c.G851C						PASS	.						94	82	86					6																	162206824		2203	4300	6503	SO:0001583	missense	5071	exon7			GAGTAGCCAAGTT		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.851G>C	6.37:g.162206824C>G	ENSP00000355865:p.Gly284Ala	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	96	15	0.15625	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514696	0.85389	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.82056	2.57	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.999	D	0.97538	1.0084	10	0.49607	T	0.09	.	17.7106	0.88321	0.0:1.0:0.0:0.0	.	284;135;256;284;93	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	A	284;256;135;93;93;93;284;205	ENSP00000355865:G284A;ENSP00000355863:G256A;ENSP00000355862:G135A;ENSP00000355860:G93A;ENSP00000343589:G93A;ENSP00000355858:G284A	ENSP00000343589:G93A	G	-	2	0	PARK2	162126814	1.000000	0.71417	0.983000	0.44433	0.791000	0.44710	6.554000	0.73923	2.717000	0.92951	0.650000	0.86243	GGC	.	.	none		0.433	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			G	162206824	C	G	162206824	3	3	18	1	0	0	0	0	1	0	0	0	11449	739	26	4	570	4	PARK2	6	162206824	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	24006365	162206824	8908243	93	4504										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53104001	53104001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcaggcggaacctgcagcccCggccctctgccttcaagccc	11	19	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:53104001C>T	ENST00000408890.4	+	1	653	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672																																					p.R213W		Atlas-SNP	.											POM121L12,NS,carcinoma,-2,1	POM121L12	146	1	0			c.C637T						PASS	.						45	55	52					7																	53104001		1974	4130	6104	SO:0001583	missense	285877	exon1			CAGCCCCGGCCCT		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.637C>T	7.37:g.53104001C>T	ENSP00000386133:p.Arg213Trp	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	51	15	0.294118	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.515	0.655388	0.14580	.	.	ENSG00000221900	ENST00000408890	T	0.11277	2.79	1.8	0.644	0.17776	.	.	.	.	.	T	0.17450	0.0419	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.13602	-1.0503	9	0.87932	D	0	.	4.709	0.12863	0.627:0.373:0.0:0.0	.	213	Q8N7R1	P1L12_HUMAN	W	213	ENSP00000386133:R213W	ENSP00000386133:R213W	R	+	1	2	POM121L12	53071495	0.000000	0.05858	0.069000	0.20011	0.053000	0.15095	-0.015000	0.12634	0.178000	0.19917	-0.397000	0.06425	CGG	.	.	none		0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53104001	C	T	53104001	3	4	18	1	0	0	0	0	1	0	0	0	12241	643	23	1	639	1	POM121L12	7	53104001	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10		53104001	106034662	94	4505										
UPK3B	80761	hgsc.bcm.edu	37	chr7	76143285	76143285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaagacccccggatccatcgAcacctggccagggcggcgaa	13	15	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:76143285A>G	ENST00000257632.5	+	3	776	c.648A>G	c.(646-648)cgA>cgG	p.R216R	UPK3B_ENST00000419923.2_Silent_p.R216R|UPK3B_ENST00000334348.3_Missense_Mutation_p.D188G|UPK3B_ENST00000448265.3_Silent_p.R216R|UPK3B_ENST00000394849.1_Silent_p.R161R|UPK3B_ENST00000443097.2_Missense_Mutation_p.D188G			Q9BT76	UPK3B_HUMAN	uroplakin 3B	216					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGATCCATCGACACCTGGCCA	0.647																																					p.D188G		Atlas-SNP	.											.	UPK3B	15	.	0			c.A563G						PASS	.						169	121	137					7																	76143285		2203	4300	6503	SO:0001819	synonymous_variant	80761	exon5			CCATCGACACCTG	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.648A>G	7.37:g.76143285A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	112	30	0.267857	NM_182684	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.275948	0.40294	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.58940	0.3;0.3	4.87	4.87	0.63330	.	.	.	.	.	T	0.60945	0.2308	.	.	.	0.34163	D	0.668931	P	0.39282	0.666	P	0.47134	0.539	T	0.71965	-0.4433	8	0.45353	T	0.12	.	11.8846	0.52594	1.0:0.0:0.0:0.0	.	188	A6NHH5	.	G	188	ENSP00000334938:D188G;ENSP00000444585:D188G	ENSP00000334938:D188G	D	+	2	0	UPK3B	75981221	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	4.525000	0.60559	1.831000	0.53308	0.260000	0.18958	GAC	.	.	none		0.647	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		G	76143285	A	G	76143285	2	3	18	1	0	0	0	0	0	0	0	1	17008	275	10	2		2	UPK3B	7	76143285	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	23039284	76143285	82995378	95	4506										
CYP3A43	64816	hgsc.bcm.edu	37	chr7	99453289	99453290	+	Frame_Shift_Ins	INS	-	-	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aaagatgttacccattttttINSaaaaaattccattgaaagga							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:99453289_99453290insA	ENST00000354829.2	+	8	849_850	c.746_747insA	c.(745-750)ttaaaafs	p.LK249fs	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Frame_Shift_Ins_p.LK139fs|CYP3A43_ENST00000222382.5_Frame_Shift_Ins_p.LK249fs|CYP3A43_ENST00000312017.5_Frame_Shift_Ins_p.LK249fs|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	249			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	ACCCATTTTTTAAAAAATTCCA	0.312																																					p.L249fs		Atlas-Indel	.											CYP3A43,NS,carcinoma,0,1	CYP3A43	52	1	0			c.746_747insA						PASS	.																																			SO:0001589	frameshift_variant	64816	exon8			.	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.752dupA	7.37:g.99453295_99453295dupA	ENSP00000346887:p.Leu249fs	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	128	31	0.242188	NM_022820	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Frame_Shift_Ins	INS	ENST00000354829.2	37	CCDS5676.1																																																																																			.	.	none		0.312	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			A	99453290	-	A	99453289	7	5	18	1	0	1	1	0	0	0	0	0	4179	1764	61	0	776	0	CYP3A43	7	99453289	Frame_Shift_Ins	INS	-	TCGA-FF-A7CR-01A-11D-A382-10	23310004	99453289	59685374	96	4507										
TRIM4	89122	hgsc.bcm.edu	37	chr7	99507230	99507230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acttctacatcctgtaaatgCatgactttcttcatcttggc	5	11	4	1	rs188783002		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:99507230C>T	ENST00000355947.2	-	3	654	c.525G>A	c.(523-525)atG>atA	p.M175I	TRIM4_ENST00000349062.2_Missense_Mutation_p.M149I|TRIM4_ENST00000354241.5_Missense_Mutation_p.M149I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	175					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CCTGTAAATGCATGACTTTCT	0.453																																					p.M175I		Atlas-SNP	.											.	TRIM4	33	.	0			c.G525A						PASS	.						250	204	220					7																	99507230		2203	4300	6503	SO:0001583	missense	89122	exon3			TAAATGCATGACT	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.525G>A	7.37:g.99507230C>T	ENSP00000348216:p.Met175Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	141	25	0.177305	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.528|1.528	-0.545076|-0.545076	0.04024|0.04024	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	.|T;T;T	.|0.66995	.|-0.11;-0.08;-0.24	2.55|2.55	-0.256|-0.256	0.12984|0.12984	.|.	.|.	.|.	.|.	.|.	T|T	0.46983|0.46983	0.1421|0.1421	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.0;0.0	T|T	0.26258|0.26258	-1.0108|-1.0108	5|9	.|0.33141	.|T	.|0.24	.|.	5.0163|5.0163	0.14337|0.14337	0.0:0.5468:0.0:0.4532|0.0:0.5468:0.0:0.4532	.|.	.|149;149;175	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	T|I	51|175;149;5;149	.|ENSP00000348216:M175I;ENSP00000275736:M149I;ENSP00000346186:M149I	.|ENSP00000275736:M149I	A|M	-|-	1|3	0|0	TRIM4|TRIM4	99345166|99345166	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.579000|-0.579000	0.05834|0.05834	-0.071000|-0.071000	0.12886|0.12886	-0.262000|-0.262000	0.10625|0.10625	GCA|ATG	C|1.000;A|0.000	.	alt		0.453	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		T	99507230	C	T	99507230	3	4	18	1	0	0	0	0	1	0	0	0	16511	710	25	2	997	2	TRIM4	7	99507230	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	53941	99507230	59631433	97	4508										
MUC17	140453	hgsc.bcm.edu	37	chr7	100679390	100679390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctgacggtaccagcatgcaaAcctcaacttatagtgaagga	9	10	1	2	rs150982179		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:100679390A>G	ENST00000306151.4	+	3	4757	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1565	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)					CAGCATGCAAACCTCAACTTA	0.488																																					p.T1565A		Atlas-SNP	.											MUC17,NS,carcinoma,-2,1	MUC17	804	1	0			c.A4693G						scavenged	.						265	248	254					7																	100679390		2203	4300	6503	SO:0001583	missense	140453	exon3			ATGCAAACCTCAA	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.4693A>G	7.37:g.100679390A>G	ENSP00000302716:p.Thr1565Ala	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	102	4	0.0392157	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.177	-0.639202	0.03557	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.364	0.364	0.16124	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47586	-0.9106	8	0.06236	T	0.91	.	.	.	.	.	1565	Q685J3	MUC17_HUMAN	A	1565	ENSP00000302716:T1565A	ENSP00000302716:T1565A	T	+	1	0	MUC17	100466110	0.012000	0.17670	0.001000	0.08648	0.002000	0.02628	1.128000	0.31369	0.391000	0.25143	0.102000	0.15555	ACC	.	.	weak		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679390	A	G	100679390	3	3	18	1	0	0	0	0	1	0	0	0	9974	43	2	2	4703	2	MUC17	7	100679390	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1172160	100679390	58459273	98	4509										
MUC17	140453	hgsc.bcm.edu	37	chr7	100679782	100679782	+	Missense_Mutation	SNP	A	A	G													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agaactcctttaacaagtatAactgtcagaacaacaccggt					rs71525815		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:100679782A>G	ENST00000306151.4	+	3	5149	c.5085A>G	c.(5083-5085)atA>atG	p.I1695M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1695	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)					TAACAAGTATAACTGTCAGAA	0.473																																					p.I1695M		Atlas-SNP	.											MUC17,colon,carcinoma,0,1	MUC17	804	1	0			c.A5085G						scavenged	.						175	193	187					7																	100679782		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGTATAACTGTC	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.5085A>G	7.37:g.100679782A>G	ENSP00000302716:p.Ile1695Met	Somatic	69	4	0.057971		WXS	Illumina HiSeq	Phase_I	69	8	0.115942	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.936922	0.00484	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.331	-0.661	0.11417	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49322	-0.8952	8	0.44086	T	0.13	.	.	.	.	.	1695	Q685J3	MUC17_HUMAN	M	1695	ENSP00000302716:I1695M	ENSP00000302716:I1695M	I	+	3	3	MUC17	100466502	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.838000	0.01687	-2.680000	0.00409	-1.981000	0.00455	ATA	.	.	none		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679782	A	G	100679782	3	3	18	1	0	0	0	0	1	0	0	0	9974	352	13	2	5095	2	MUC17	7	100679782	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	392	100679782	58458881	99	4510	84	2								
MUC17	140453	hgsc.bcm.edu	37	chr7	100679783	100679783	+	Missense_Mutation	SNP	A	A	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaactcctttaacaagtataActgtcagaacaacaccggtg					rs71525815		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:100679783A>C	ENST00000306151.4	+	3	5150	c.5086A>C	c.(5086-5088)Act>Cct	p.T1696P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1696	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)					AACAAGTATAACTGTCAGAAC	0.478																																					p.T1696P		Atlas-SNP	.											MUC17,NS,carcinoma,-1,1	MUC17	804	1	0			c.A5086C						scavenged	.						176	194	188					7																	100679783		2203	4300	6503	SO:0001583	missense	140453	exon3			AGTATAACTGTCA	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.5086A>C	7.37:g.100679783A>C	ENSP00000302716:p.Thr1696Pro	Somatic	68	5	0.0735294		WXS	Illumina HiSeq	Phase_I	69	8	0.115942	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.755877	0.00085	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.331	-0.661	0.11417	.	.	.	.	.	T	0.00815	0.0027	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55360	-0.8153	8	0.28530	T	0.3	.	.	.	.	.	1696	Q685J3	MUC17_HUMAN	P	1696	ENSP00000302716:T1696P	ENSP00000302716:T1696P	T	+	1	0	MUC17	100466503	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.363000	0.00128	-5.888000	0.00008	-5.590000	0.00000	ACT	.	.	none		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100679783	A	C	100679783	3	2	18	1	0	0	0	0	1	0	0	0	9974	43	2	5	5096	5	MUC17	7	100679783	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1	100679783	58458880	100	4511	84	2								
NRF1	4899	hgsc.bcm.edu	37	chr7	129330335	129330335	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caggaggttaactcagaactGccgcctctcaccatcgacgg	10	14	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr7:129330335G>T	ENST00000393232.1	+	5	672	c.555G>T	c.(553-555)ctG>ctT	p.L185L	NRF1_ENST00000223190.4_Silent_p.L185L|NRF1_ENST00000353868.4_Silent_p.L185L|NRF1_ENST00000311967.2_Silent_p.L185L|NRF1_ENST00000393231.3_Silent_p.L185L|NRF1_ENST00000393230.2_Silent_p.L185L|NRF1_ENST00000539636.1_Silent_p.L24L	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	185					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ACTCAGAACTGCCGCCTCTCA	0.562																																					p.L185L		Atlas-SNP	.											.	NRF1	40	.	0			c.G555T						PASS	.						102	84	90					7																	129330335		2203	4300	6503	SO:0001819	synonymous_variant	4899	exon5			AGAACTGCCGCCT	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.555G>T	7.37:g.129330335G>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	102	28	0.27451	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	CCDS5813.2																																																																																			.	.	none		0.562	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		T	129330335	G	T	129330335	2	4	18	1	0	0	0	0	0	0	0	1	10646	1306	46	4		4	NRF1	7	129330335	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	28650552	129330335	29808328	101	4512										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2057240	2057240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttttgataaggggcgggttcGcttctggctccaggctgagc	15	9	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:2057240G>T	ENST00000262113.4	+	25	3239	c.3098G>T	c.(3097-3099)cGc>cTc	p.R1033L	MYOM2_ENST00000523438.1_Missense_Mutation_p.R458L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1033					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R1033H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCGGGTTCGCTTCTGGCTC	0.443																																					p.R1033L		Atlas-SNP	.											MYOM2,NS,carcinoma,0,1	MYOM2	251	1	1	Substitution - Missense(1)	lung(1)	c.G3098T						PASS	.						81	79	80					8																	2057240		2203	4300	6503	SO:0001583	missense	9172	exon25			GGGTTCGCTTCTG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3098G>T	8.37:g.2057240G>T	ENSP00000262113:p.Arg1033Leu	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	190	38	0.2	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	34	5.316100	0.95655	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.41065	1.01;1.01	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66999	-0.5781	10	0.41790	T	0.15	.	20.0285	0.97531	0.0:0.0:1.0:0.0	.	1033	P54296	MYOM2_HUMAN	L	1033;458	ENSP00000262113:R1033L;ENSP00000428396:R458L	ENSP00000262113:R1033L	R	+	2	0	MYOM2	2044647	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.512000	0.98008	2.727000	0.93392	0.645000	0.84053	CGC	.	.	none		0.443	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2057240	G	T	2057240	3	4	18	1	0	0	0	0	1	0	0	0	10092	1087	38	4	3192	4	MYOM2	8	2057240	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		2057240	144306782	102	4513										
DEFA1	1668	hgsc.bcm.edu	37	chr8	6873603	6873603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctggtattctgcaatagcagTccatgtttttccttgagcct	8	10	1	1	rs145076681		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																					p.D65A		Atlas-SNP	.											DEFA3,NS,carcinoma,0,1	DEFA3	7	1	1	Substitution - Missense(1)	prostate(1)	c.A194C						scavenged	.						156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668	exon3			TAGCAGTCCATGT	M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala	Somatic	238	30	0.12605		WXS	Illumina HiSeq	Phase_I	247	41	0.165992	NM_005217	P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC	T|0.167;G|0.833	0.833	strong		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	18	1	0	0	0	0	1	0	0	0	4388	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	4816363	6873603	139490419	103	4514										
DLC1	10395	hgsc.bcm.edu	37	chr8	12957770	12957770	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aagatgggcccgctgatgatCaaccccagctttgagggcgc	13	12	1	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:12957770C>T	ENST00000276297.4	-	9	2485	c.2076G>A	c.(2074-2076)ttG>ttA	p.L692L	DLC1_ENST00000358919.2_Silent_p.L255L|DLC1_ENST00000512044.2_Silent_p.L289L|DLC1_ENST00000520226.1_Silent_p.L181L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	692					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGCTGATGATCAACCCCAGCT	0.572																																					p.L692L		Atlas-SNP	.											.	DLC1	411	.	0			c.G2076A						PASS	.						88	83	84					8																	12957770		2203	4300	6503	SO:0001819	synonymous_variant	10395	exon9			GATGATCAACCCC	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2076G>A	8.37:g.12957770C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	103	21	0.203883	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																			.	.	none		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12957770	C	T	12957770	2	4	18	1	0	0	0	0	0	0	0	1	4550	825	29	2		2	DLC1	8	12957770	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	6084167	12957770	133406252	104	4515										
DLC1	10395	hgsc.bcm.edu	37	chr8	13356598	13356598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttggttatctgtgggttccTgggtggccagggtctccttt	14	9	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:13356598T>C	ENST00000276297.4	-	2	1392	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	DLC1_ENST00000511869.1_Missense_Mutation_p.Q328R|DLC1_ENST00000316609.5_Missense_Mutation_p.Q328R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	328					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTGGGTTCCTGGGTGGCCAG	0.408																																					p.Q328R		Atlas-SNP	.											DLC1_ENST00000511869,colon,carcinoma,+1,3	DLC1	411	3	0			c.A983G						PASS	.						134	119	124					8																	13356598		2203	4300	6503	SO:0001583	missense	10395	exon2			GGTTCCTGGGTGG	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.983A>G	8.37:g.13356598T>C	ENSP00000276297:p.Gln328Arg	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	188	34	0.180851	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807054	0.70797	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13538	3.49;2.58;2.6	4.97	4.97	0.65823	.	0.197118	0.25361	N	0.031236	T	0.31263	0.0791	L	0.54323	1.7	0.31199	N	0.69997	D;D;B	0.76494	0.977;0.999;0.079	P;D;B	0.68943	0.73;0.961;0.025	T	0.12630	-1.0540	10	0.48119	T	0.1	.	14.7808	0.69766	0.0:0.0:0.0:1.0	.	328;328;328	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	R	328	ENSP00000276297:Q328R;ENSP00000321034:Q328R;ENSP00000425878:Q328R	ENSP00000276297:Q328R	Q	-	2	0	DLC1	13400969	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.786000	0.47790	2.228000	0.72767	0.533000	0.62120	CAG	.	.	none		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		C	13356598	T	C	13356598	3	2	18	1	0	0	0	0	1	0	0	0	4550	1580	55	3	3756	3	DLC1	8	13356598	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	398828	13356598	133007424	105	4516										
SLC7A2	6542	hgsc.bcm.edu	37	chr8	17406346	17406346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctcaaaaatatatcagcaaGtgccaggtaaaatatttgag	7	6	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:17406346G>C	ENST00000494857.1	+	5	910	c.692G>C	c.(691-693)aGt>aCt	p.S231T	SLC7A2_ENST00000522656.1_Missense_Mutation_p.S231T|SLC7A2_ENST00000470360.1_Missense_Mutation_p.S271T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S271T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S271T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	231					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATATCAGCAAGTGCCAGGTAA	0.323																																					p.S271T		Atlas-SNP	.											.	SLC7A2	157	.	0			c.G812C						PASS	.						118	125	123					8																	17406346		2203	4300	6503	SO:0001583	missense	6542	exon4			CAGCAAGTGCCAG	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.692G>C	8.37:g.17406346G>C	ENSP00000419140:p.Ser231Thr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	211	49	0.232227	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	1.700	-0.501731	0.04261	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88046	-2.17;-2.17;-2.33;-2.18;-2.33	4.68	-4.3	0.03710	Amino acid permease domain (1);	1.206210	0.05361	N	0.533658	T	0.72622	0.3483	N	0.20401	0.57	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.55471	-0.8136	10	0.25106	T	0.35	.	3.0652	0.06212	0.2122:0.4456:0.1431:0.1991	.	271;271;231	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	231;231;271;271;271	ENSP00000419140:S231T;ENSP00000430464:S231T;ENSP00000419873:S271T;ENSP00000004531:S271T;ENSP00000381164:S271T	ENSP00000004531:S271T	S	+	2	0	SLC7A2	17450725	0.000000	0.05858	0.163000	0.22734	0.993000	0.82548	-1.404000	0.02494	-0.607000	0.05738	0.650000	0.86243	AGT	.	.	none		0.323	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		C	17406346	G	C	17406346	3	2	18	1	0	0	0	0	1	0	0	0	14697	1029	36	4	826	4	SLC7A2	8	17406346	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	4049748	17406346	128957676	106	4517										
DOCK5	80005	hgsc.bcm.edu	37	chr8	25181469	25181469	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgatctggtggtttataaggTggtgctaacagaaaatggct	13	5	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:25181469T>C	ENST00000276440.7	+	17	1763		c.e17+2			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTATAAGGTGGTGCTAACA	0.443																																					.	Pancreas(145;34 1887 3271 10937 30165)	Atlas-SNP	.											.	DOCK5	167	.	0			c.1719+2T>C						PASS	.						69	61	63					8																	25181469		2203	4300	6503	SO:0001630	splice_region_variant	80005	exon17			ATAAGGTGGTGCT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1719+2T>C	8.37:g.25181469T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	79	14	0.177215	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581236	0.86748	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9649	0.79961	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25237386	1.000000	0.71417	0.989000	0.46669	0.962000	0.63368	7.997000	0.88414	2.232000	0.73038	0.533000	0.62120	.	.	.	none		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Intron	C	25181469	T	C	25181469	5	2	18	1	0	0	0	0	0	0	1	0	4690	1710	59	2	1787	2	DOCK5	8	25181469	Splice_Site	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	7775123	25181469	121182553	107	4518										
TOX	9760	hgsc.bcm.edu	37	chr8	59750643	59750643	+	Frame_Shift_Del	DEL	T	T	-													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cactgggaatcccttacctgTttttgctcttctcctaaacc							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:59750643delT	ENST00000361421.1	-	5	1141	c.921delA	c.(919-921)aaafs	p.K307fs		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	307						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCCTTACCTGTTTTTGCTCTT	0.473																																					p.Q308fs	Pancreas(161;610 1969 17913 21374 22725)	Pindel,Atlas-Indel	.											.	TOX	83	.	0			c.922delC						PASS	.						90	89	90					8																	59750643		2203	4300	6503	SO:0001589	frameshift_variant	9760	exon5			.		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.921delA	8.37:g.59750643delT	ENSP00000354842:p.Lys307fs	Somatic	112	.	.		WXS	Illumina HiSeq	Phase_I	83	19	0.229	NM_014729	Q96AV5	Frame_Shift_Del	DEL	ENST00000361421.1	37	CCDS34897.1																																																																																			.	.	none		0.473	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		-	59750643	T	-	59750643	7	5	18	1	0	1	0	1	0	0	0	0	16374	1722	60	0	679	0	TOX	8	59750643	Frame_Shift_Del	DEL	T	TCGA-FF-A7CR-01A-11D-A382-10	34569174	59750643	86613379	108	4519										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77765620	77765620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttgacattaataattctccaAgtgaagaacagatccaggaa	7	7	1	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:77765620A>G	ENST00000521891.2	+	10	6911	c.6463A>G	c.(6463-6465)Agt>Ggt	p.S2155G	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2110G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2129G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2110G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2110					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)			TAATTCTCCAAGTGAAGAACA	0.383										HNSCC(33;0.089)																											p.S2155G		Atlas-SNP	.											.	ZFHX4	878	.	0			c.A6463G						PASS	.						51	51	51					8																	77765620		1838	4076	5914	SO:0001583	missense	79776	exon10			TCTCCAAGTGAAG		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.6463A>G	8.37:g.77765620A>G	ENSP00000430497:p.Ser2155Gly	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	69	12	0.173913	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063687	0.36373	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	3.92	3.92	0.45320	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	U	0.000072	D	0.89375	0.6697	L	0.48260	1.515	0.48395	D	0.999648	B;B;B	0.30179	0.271;0.229;0.229	B;B;B	0.34652	0.187;0.117;0.117	D	0.88251	0.2916	10	0.45353	T	0.12	.	13.2107	0.59822	1.0:0.0:0.0:0.0	.	2110;2110;2155	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	G	2155;2139;2110;2110;2129	ENSP00000430497:S2155G;ENSP00000399605:S2110G;ENSP00000050961:S2110G;ENSP00000430848:S2129G	ENSP00000050961:S2110G	S	+	1	0	ZFHX4	77928175	1.000000	0.71417	0.944000	0.38274	0.926000	0.56050	7.202000	0.77856	1.784000	0.52394	0.374000	0.22700	AGT	.	.	none		0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77765620	A	G	77765620	3	3	18	1	0	0	0	0	1	0	0	0	17632	72	3	3	6497	3	ZFHX4	8	77765620	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	18014977	77765620	68598402	109	4520										
MTSS1	9788	hgsc.bcm.edu	37	chr8	125565316	125565318	+	In_Frame_Del	DEL	CTC	CTC	-													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gatggcgttcagcatgtcttCtccttgtggagtatcccttg							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:125565316_125565318delCTC	ENST00000518547.1	-	14	2656_2658	c.2183_2185delGAG	c.(2182-2187)ggagaa>gaa	p.G728del	MTSS1_ENST00000378017.3_In_Frame_Del_p.G703del|MTSS1_ENST00000431961.2_In_Frame_Del_p.G446del|MTSS1_ENST00000395508.2_In_Frame_Del_p.G502del|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_In_Frame_Del_p.G618del|MTSS1_ENST00000325064.5_In_Frame_Del_p.G732del|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_In_Frame_Del_p.G446del	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	728	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCATGTCTTCTCCTTGTGGAGT	0.562																																					p.728_729del	Esophageal Squamous(160;622 1893 3862 8546 12509)	Pindel,Atlas-Indel	.											.	MTSS1	79	.	0			c.2184_2186del						PASS	.																																			SO:0001651	inframe_deletion	9788	exon14			.	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2183_2185delGAG	8.37:g.125565316_125565318delCTC	ENSP00000429064:p.Gly728del	Somatic	204	.	.		WXS	Illumina HiSeq	Phase_I	220	43	0.195	NM_014751	J3KNK6|Q8TCA2|Q96RX2	In_Frame_Del	DEL	ENST00000518547.1	37	CCDS6353.1																																																																																			.	.	none		0.562	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		-	125565318	CTC	-	125565316	7	5	18	1	0	1	0	1	0	0	0	0	9962	922	32	0	86	0	MTSS1	8	125565316	In_Frame_Del	DEL	CTC	TCGA-FF-A7CR-01A-11D-A382-10	47799696	125565316	20798706	110	4521										
OC90	729330	hgsc.bcm.edu	37	chr8	133045291	133045291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	actgcttctgctcaccttttTcagtggtctcctcaggatca	7	13	6	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:133045291T>C	ENST00000443356.2	-	12	988	c.902A>G	c.(901-903)gAa>gGa	p.E301G	OC90_ENST00000262283.5_Missense_Mutation_p.E497G|OC90_ENST00000254627.3_Missense_Mutation_p.E285G|OC90_ENST00000603859.1_Missense_Mutation_p.E285G			Q02509	OC90_HUMAN	otoconin 90	301					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTCACCTTTTTCAGTGGTCTC	0.493																																					p.E285G		Atlas-SNP	.											OC90_ENST00000262283,NS,carcinoma,-1,2	OC90	163	2	0			c.A854G						PASS	.						69	75	73					8																	133045291		2013	4178	6191	SO:0001583	missense	729330	exon11			CCTTTTTCAGTGG	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.902A>G	8.37:g.133045291T>C	ENSP00000390050:p.Glu301Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	64	9	0.140625	NM_001080399	B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	T	0.567	-0.842871	0.02671	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.30182	1.61;1.57;1.54	4.67	1.77	0.24775	.	1.009930	0.07936	N	0.978315	T	0.09024	0.0223	N	0.01168	-0.975	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.32322	-0.9911	10	0.02654	T	1	-0.7969	6.2646	0.20919	0.0:0.5341:0.3643:0.1016	.	285;301	Q02509-2;Q02509	.;OC90_HUMAN	G	285;301;497	ENSP00000254627:E285G;ENSP00000390050:E301G;ENSP00000262283:E497G	ENSP00000254627:E285G	E	-	2	0	RP11-240B13.2;OC90	133114473	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.862000	0.27899	0.395000	0.25257	-0.242000	0.12053	GAA	.	.	none		0.493	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		C	133045291	T	C	133045291	3	2	18	1	0	0	0	0	1	0	0	0	10814	1783	62	2	595	2	OC90	8	133045291	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	7479975	133045291	13318731	111	4522										
SLA	6503	hgsc.bcm.edu	37	chr8	134057342	134057342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctttacctgcctgtgtctcAccgacagtgagtaaaaccct	8	13	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:134057342A>G	ENST00000338087.5	-	7	1190	c.371T>C	c.(370-372)gTg>gCg	p.V124A	TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.V141A|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.V164A|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.V16A	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	124	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCTGTGTCTCACCGACAGTGA	0.572																																					p.V164A		Atlas-SNP	.											.	SLA	63	.	0			c.T491C						PASS	.						124	100	108					8																	134057342		2203	4300	6503	SO:0001583	missense	6503	exon5			TGTCTCACCGACA		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.371T>C	8.37:g.134057342A>G	ENSP00000337548:p.Val124Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	86	27	0.313953	NM_006748	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568259	0.86439	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000522119	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	5.77	5.77	0.91146	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96457	0.9338	10	0.87932	D	0	-32.0528	14.0378	0.64656	1.0:0.0:0.0:0.0	.	124;124;124	Q6FI01;Q5TZW1;Q13239	.;.;SLAP1_HUMAN	A	124;164;141;16;124	ENSP00000337548:V124A;ENSP00000394049:V164A;ENSP00000378759:V141A;ENSP00000427928:V16A;ENSP00000430596:V124A	ENSP00000337548:V124A	V	-	2	0	SLA	134126524	1.000000	0.71417	0.976000	0.42696	0.953000	0.61014	8.526000	0.90588	2.210000	0.71456	0.459000	0.35465	GTG	.	.	none		0.572	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			G	134057342	A	G	134057342	3	3	18	1	0	0	0	0	1	0	0	0	14363	159	6	2	471	2	SLA	8	134057342	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1012051	134057342	12306680	112	4523										
DENND3	22898	hgsc.bcm.edu	37	chr8	142178188	142178188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agcaagtgcgtgcaggcataCcatgcccactttgtctccat	9	13	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:142178188C>T	ENST00000262585.2	+	13	1877	c.1599C>T	c.(1597-1599)taC>taT	p.Y533Y	DENND3_ENST00000424248.1_Silent_p.Y481Y|DENND3_ENST00000519811.1_Silent_p.Y613Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	533					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGGCATACCATGCCCACT	0.537																																					p.Y533Y		Atlas-SNP	.											.	DENND3	127	.	0			c.C1599T						PASS	.						136	122	126					8																	142178188		2203	4300	6503	SO:0001819	synonymous_variant	22898	exon13			GGCATACCATGCC	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1599C>T	8.37:g.142178188C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	163	12	0.0736196	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.328256	0.01309	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.36	1.0	0.19881	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.52902	-0.8513	4	.	.	.	-9.2619	10.3492	0.43924	0.0:0.6493:0.0:0.3507	.	.	.	.	S	538	.	.	P	+	1	0	DENND3	142247370	0.999000	0.42202	0.004000	0.12327	0.001000	0.01503	0.623000	0.24447	0.272000	0.22027	-0.379000	0.06801	CCA	.	.	none		0.537	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142178188	C	T	142178188	2	4	18	1	0	0	0	0	0	0	0	1	4432	518	18	2		2	DENND3	8	142178188	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	8120846	142178188	4185834	113	4524										
ARC	23237	hgsc.bcm.edu	37	chr8	143695199	143695199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgcccacggaaacggtgtggCgggctgactcgctgcccacc	14	16	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr8:143695199C>T	ENST00000356613.2	-	1	1634	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				AACGGTGTGGCGGGCTGACTC	0.701																																					p.R145H		Atlas-SNP	.											.	ARC	34	.	0			c.G434A						PASS	.						7	9	8					8																	143695199		2139	4195	6334	SO:0001583	missense	23237	exon1			GTGTGGCGGGCTG	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.434G>A	8.37:g.143695199C>T	ENSP00000349022:p.Arg145His	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	27	6	0.222222	NM_015193	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614323	0.66672	.	.	ENSG00000198576	ENST00000356613	T	0.35789	1.29	4.56	3.68	0.42216	.	0.231396	0.26075	N	0.026492	T	0.24314	0.0589	L	0.27053	0.805	0.31343	N	0.683397	B	0.20459	0.045	B	0.11329	0.006	T	0.18524	-1.0334	10	0.87932	D	0	.	8.138	0.31067	0.0:0.7901:0.0:0.2099	.	145	Q7LC44	ARC_HUMAN	H	145	ENSP00000349022:R145H	ENSP00000349022:R145H	R	-	2	0	ARC	143692201	0.998000	0.40836	0.992000	0.48379	0.736000	0.42039	0.684000	0.25364	0.899000	0.36444	0.462000	0.41574	CGC	.	.	none		0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			T	143695199	C	T	143695199	3	4	18	1	0	0	0	0	1	0	0	0	841	768	27	1	760	1	ARC	8	143695199	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	1517011	143695199	2668823	114	4525										
C9orf93	203238	hgsc.bcm.edu	37	chr9	15745534	15745534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acatcaaaaggagcagttgcGttgtttacaagcgctcagtt	10	8	2	0	rs570101221		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:15745534G>A	ENST00000380701.3	+	18	2904	c.2576G>A	c.(2575-2577)cGt>cAt	p.R859H	CCDC171_ENST00000297641.3_Missense_Mutation_p.R859H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	859																	GAGCAGTTGCGTTGTTTACAA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		14338	0.0		0.0	False		,,,				2504	0.001				p.R859H		Atlas-SNP	.											.	.	.	.	0			c.G2576A						PASS	.						187	183	185					9																	15745534		2203	4300	6503	SO:0001583	missense	203238	exon18			AGTTGCGTTGTTT	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2576G>A	9.37:g.15745534G>A	ENSP00000370077:p.Arg859His	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	101	20	0.19802	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.33|19.33	3.806863|3.806863	0.70797|0.70797	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575	T;T|.	0.15952|.	2.38;2.38|.	5.03|5.03	4.12|4.12	0.48240|0.48240	.|.	0.205040|.	0.41712|.	D|.	0.000833|.	T|T	0.43322|0.43322	0.1242|0.1242	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25007|.	0.116;0.071;0.049|.	B;B;B|.	0.19391|.	0.025;0.011;0.017|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.38643|.	T|.	0.18|.	-7.835|-7.835	11.9773|11.9773	0.53100|0.53100	0.1426:0.0:0.8574:0.0|0.1426:0.0:0.8574:0.0	.|.	867;126;859|.	B7ZM22;A6NK04;Q6TFL3|.	.;.;CI093_HUMAN|.	H|I	859;126;859|99	ENSP00000297641:R859H;ENSP00000370077:R859H|.	ENSP00000297641:R859H|.	R|V	+|+	2|1	0|0	C9orf93|C9orf93	15735534|15735534	0.688000|0.688000	0.27680|0.27680	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.853000|1.853000	0.39358|0.39358	2.351000|2.351000	0.79841|0.79841	0.591000|0.591000	0.81541|0.81541	CGT|GTT	.	.	none		0.343	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		A	15745534	G	A	15745534	3	1	18	1	0	0	0	0	1	0	0	0	2506	1145	40	1	2642	1	C9orf93	9	15745534	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		15745534	125467897	115	4526										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797962	33797962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aatgacatcatgctgatcaaActctcctcacctgccgtcat	5	14	5	2	rs374178684		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:33797962A>G	ENST00000361005.5	+	3	507	c.507A>G	c.(505-507)aaA>aaG	p.K169K	PRSS3_ENST00000429677.3_Silent_p.K105K|PRSS3_ENST00000342836.4_Silent_p.K126K|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.K112K	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGCTGATCAAACTCTCCTCAC	0.567																																					p.K169K		Atlas-SNP	.											PRSS3_ENST00000361005,NS,neuroblastoma,0,3	PRSS3	79	3	0			c.A507G						scavenged	.						266	201	223					9																	33797962		2203	4300	6503	SO:0001819	synonymous_variant	5646	exon3			GATCAAACTCTCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.507A>G	9.37:g.33797962A>G		Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	158	5	0.0316456	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																			.	.	weak		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		G	33797962	A	G	33797962	2	3	18	1	0	0	0	0	0	0	0	1	12622	40	2	2		2	PRSS3	9	33797962	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	18052428	33797962	107415469	116	4527										
GRHPR	9380	hgsc.bcm.edu	37	chr9	37424860	37424860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agctgtgaggtggagcagtgGgactcggatgagcccatccc	16	10	0	2	rs180177304		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:37424860G>T	ENST00000318158.6	+	2	187	c.102G>T	c.(100-102)tgG>tgT	p.W34C	GRHPR_ENST00000607784.1_Missense_Mutation_p.W34C|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	34					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGGAGCAGTGGGACTCGGATG	0.677																																					p.W34C		Atlas-SNP	.											.	GRHPR	35	.	0			c.G102T						PASS	.						46	43	44					9																	37424860		2203	4300	6503	SO:0001583	missense	9380	exon2			GCAGTGGGACTCG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.102G>T	9.37:g.37424860G>T	ENSP00000313432:p.Trp34Cys	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	18	0.391304	NM_012203	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399816	0.83120	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.83755	-1.76;-1.76	5.74	5.74	0.90152	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.86178	2.8	0.80722	D	1	P	0.43287	0.802	B	0.43478	0.421	D	0.87612	0.2504	10	0.44086	T	0.13	.	19.5878	0.95496	0.0:0.0:1.0:0.0	.	34	Q9UBQ7	GRHPR_HUMAN	C	34	ENSP00000367055:W34C;ENSP00000313432:W34C	ENSP00000313432:W34C	W	+	3	0	GRHPR	37414860	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.016000	0.93645	2.745000	0.94114	0.650000	0.86243	TGG	.	.	alt		0.677	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		T	37424860	G	T	37424860	3	4	18	1	0	0	0	0	1	0	0	0	6766	1241	43	4	108	4	GRHPR	9	37424860	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3626898	37424860	103788571	117	4528										
GRHPR	9380	hgsc.bcm.edu	37	chr9	37424900	37424900	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctgccaaggagctagagcgaGgtgtggcgggggcccacggc	19	11	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:37424900G>C	ENST00000318158.6	+	2	227	c.142G>C	c.(142-144)Ggt>Cgt	p.G48R	GRHPR_ENST00000607784.1_Missense_Mutation_p.G48R|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	48					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCTAGAGCGAGGTGTGGCGGG	0.662																																					p.G48R		Atlas-SNP	.											.	GRHPR	35	.	0			c.G142C						PASS	.						50	47	48					9																	37424900		2203	4300	6503	SO:0001583	missense	9380	exon2			GAGCGAGGTGTGG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.142G>C	9.37:g.37424900G>C	ENSP00000313432:p.Gly48Arg	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	41	18	0.439024	NM_012203	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007054	0.19199	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.82803	-1.65;-1.65	5.98	-1.73	0.08081	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.355960	0.35805	N	0.002974	T	0.55417	0.1919	N	0.02379	-0.575	0.18873	N	0.999986	B	0.11235	0.004	B	0.23150	0.044	T	0.49995	-0.8879	10	0.15066	T	0.55	-4.7328	8.5821	0.33634	0.1811:0.4099:0.409:0.0	.	48	Q9UBQ7	GRHPR_HUMAN	R	48	ENSP00000367055:G48R;ENSP00000313432:G48R	ENSP00000313432:G48R	G	+	1	0	GRHPR	37414900	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.078000	0.14761	-0.336000	0.08438	-0.181000	0.13052	GGT	.	.	none		0.662	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		C	37424900	G	C	37424900	3	2	18	1	0	0	0	0	1	0	0	0	6766	1000	35	4	148	4	GRHPR	9	37424900	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	40	37424900	103788531	118	4529										
SLC28A3	64078	hgsc.bcm.edu	37	chr9	86917281	86917281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtgaaagttcagcacacaggCcgaaatcaccataaccagat	8	11	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:86917281C>T	ENST00000376238.4	-	5	407	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	SLC28A3_ENST00000495823.1_5'Flank|SLC28A3_ENST00000537648.1_Missense_Mutation_p.A51T	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	120					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGCACACAGGCCGAAATCACC	0.502																																					p.A120T	Ovarian(106;425 1539 34835 42413 43572)	Atlas-SNP	.											.	SLC28A3	72	.	0			c.G358A						PASS	.						81	66	71					9																	86917281		2203	4300	6503	SO:0001583	missense	64078	exon5			CACAGGCCGAAAT	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.358G>A	9.37:g.86917281C>T	ENSP00000365413:p.Ala120Thr	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	37	10	0.27027	NM_001199633	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751503	0.89753	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	D;D	0.84070	-1.8;-1.8	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	M	0.80422	2.495	0.47183	D	0.99934	D;D	0.69078	0.997;0.997	D;D	0.74348	0.983;0.983	D	0.91859	0.5498	10	0.66056	D	0.02	-18.4347	17.9616	0.89087	0.0:1.0:0.0:0.0	.	51;120	B4E2S8;Q9HAS3	.;S28A3_HUMAN	T	120;51	ENSP00000365413:A120T;ENSP00000446438:A51T	ENSP00000365413:A120T	A	-	1	0	SLC28A3	86107101	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	5.949000	0.70257	2.775000	0.95449	0.655000	0.94253	GCC	.	.	none		0.502	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		T	86917281	C	T	86917281	3	4	18	1	0	0	0	0	1	0	0	0	14533	739	26	2	1773	2	SLC28A3	9	86917281	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	49492381	86917281	54296150	119	4530										
C9orf30	91283	hgsc.bcm.edu	37	chr9	103204249	103204249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caacgaaattataaagcctgCcaaatacttctcagaattgg	6	9	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:103204249C>T	ENST00000395067.2	+	2	300	c.29C>T	c.(28-30)gCc>gTc	p.A10V	MSANTD3-TMEFF1_ENST00000502978.1_5'Flank|MSANTD3_ENST00000374885.1_Missense_Mutation_p.A10V|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	10										endometrium(2)|lung(2)	4						ATAAAGCCTGCCAAATACTTC	0.393																																					p.A10V		Atlas-SNP	.											.	MSANTD3	10	.	0			c.C29T						PASS	.						59	56	57					9																	103204249		2203	4300	6503	SO:0001583	missense	91283	exon2			AGCCTGCCAAATA	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.29C>T	9.37:g.103204249C>T	ENSP00000378506:p.Ala10Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	69	18	0.26087	NM_001198805	B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798673	0.90538	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.74612	0.3739	L	0.43923	1.385	0.47905	D	0.999541	D	0.65815	0.995	D	0.76071	0.987	T	0.73895	-0.3838	8	0.54805	T	0.06	-10.9805	19.1261	0.93384	0.0:1.0:0.0:0.0	.	10	Q96H12	CI030_HUMAN	V	10	.	ENSP00000364020:A10V	A	+	2	0	C9orf30	102244070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.267000	0.65530	2.779000	0.95612	0.655000	0.94253	GCC	.	.	none		0.393	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		T	103204249	C	T	103204249	3	4	18	1	0	0	0	0	1	0	0	0	2478	739	26	2	31	2	C9orf30	9	103204249	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	16286968	103204249	38009182	120	4531										
KLF4	9314	hgsc.bcm.edu	37	chr9	110250112	110250112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggctcacgtcgttgatgtccGccaggttgaagggagccgtc	15	11	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:110250112G>A	ENST00000374672.4	-	3	1036	c.563C>T	c.(562-564)gCg>gTg	p.A188V		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	188	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTTGATGTCCGCCAGGTTGAA	0.731																																					p.A188V		Atlas-SNP	.											.	KLF4	106	.	0			c.C563T						PASS	.						4	4	4					9																	110250112		2029	4039	6068	SO:0001583	missense	9314	exon3			ATGTCCGCCAGGT	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.563C>T	9.37:g.110250112G>A	ENSP00000363804:p.Ala188Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	39	12	0.307692	NM_004235	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133999	0.77662	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.05513	3.43	4.42	3.5	0.40072	.	0.000000	0.42964	D	0.000640	T	0.09379	0.0231	N	0.19112	0.55	0.30455	N	0.774841	D;D	0.69078	0.997;0.994	P;P	0.55161	0.77;0.652	T	0.03684	-1.1013	10	0.46703	T	0.11	.	13.8448	0.63461	0.0:0.1545:0.8455:0.0	.	188;188	O43474;O43474-1	KLF4_HUMAN;.	V	188;179	ENSP00000363804:A188V	ENSP00000363804:A188V	A	-	2	0	KLF4	109289933	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.439000	0.90308	1.031000	0.39867	0.655000	0.94253	GCG	.	.	none		0.731	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		A	110250112	G	A	110250112	3	1	18	1	0	0	0	0	1	0	0	0	8348	1087	38	1	888	1	KLF4	9	110250112	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	7045863	110250112	30963319	121	4532										
CEP110	11064	hgsc.bcm.edu	37	chr9	123922502	123922502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtgaaagaaaaactcaacttAcacttataaagcaggaaatt	6	6	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:123922502A>G	ENST00000373855.1	+	32	5271	c.5011A>G	c.(5011-5013)Aca>Gca	p.T1671A	CNTRL_ENST00000373844.1_Missense_Mutation_p.T116A|CNTRL_ENST00000373850.1_Missense_Mutation_p.T1119A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1671A|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1671					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AACTCAACTTACACTTATAAA	0.308																																					p.T1671A		Atlas-SNP	.											.	CNTRL	161	.	0			c.A5011G						PASS	.						68	78	74					9																	123922502		2203	4291	6494	SO:0001583	missense	11064	exon30			CAACTTACACTTA	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5011A>G	9.37:g.123922502A>G	ENSP00000362962:p.Thr1671Ala	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	385	89	0.231169	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	6.384	0.438895	0.12104	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000431571;ENST00000373845;ENST00000373844	T;T;T	0.28454	1.61;1.61;1.61	5.62	-2.39	0.06602	.	.	.	.	.	T	0.10637	0.0260	N	0.04880	-0.145	0.20821	N	0.999849	B	0.02656	0.0	B	0.01281	0.0	T	0.36672	-0.9738	9	0.08179	T	0.78	.	5.5625	0.17152	0.3011:0.0:0.4108:0.2881	.	1671	Q7Z7A1	CNTRL_HUMAN	A	1671;1671;1671;427;1119;340;353;116	ENSP00000362962:T1671A;ENSP00000238341:T1671A;ENSP00000362956:T1119A	ENSP00000238341:T1671A	T	+	1	0	CNTRL	122962323	0.022000	0.18835	0.991000	0.47740	0.958000	0.62258	-0.238000	0.08977	-0.267000	0.09325	-0.462000	0.05337	ACA	.	.	none		0.308	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123922502	A	G	123922502	3	3	18	1	0	0	0	0	1	0	0	0	3245	391	14	2	5129	2	CEP110	9	123922502	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	13672390	123922502	17290929	122	4533										
ABL1	25	hgsc.bcm.edu	37	chr9	133729485	133729485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccagtagcatctgactttgaGcctcagggtctgagtgaagc	12	10	3	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:133729485G>A	ENST00000318560.5	+	2	495	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	38	CAP.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTGACTTTGAGCCTCAGGGTC	0.463			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																p.E57E		Atlas-SNP	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1	1632	.	0			c.G171A						PASS	.						99	103	102					9																	133729485		2203	4300	6503	SO:0001819	synonymous_variant	25	exon2			CTTTGAGCCTCAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.114G>A	9.37:g.133729485G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	116	21	0.181034	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			.	.	none		0.463	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		A	133729485	G	A	133729485	2	1	18	1	0	0	0	0	0	0	0	1	92	962	34	2		2	ABL1	9	133729485	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9806983	133729485	7483946	123	4534										
UAP1L1	91373	hgsc.bcm.edu	37	chr9	139973009	139973009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggccgagttcttcagggagCacaacttcttccacctggac	10	14	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr9:139973009C>T	ENST00000409858.3	+	3	582	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	UAP1L1_ENST00000360271.3_Missense_Mutation_p.H61Y|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	184							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CTTCAGGGAGCACAACTTCTT	0.622																																					p.H184Y		Atlas-SNP	.											.	UAP1L1	46	.	0			c.C550T						PASS	.						80	65	70					9																	139973009		2203	4300	6503	SO:0001583	missense	91373	exon3			AGGGAGCACAACT	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.550C>T	9.37:g.139973009C>T	ENSP00000386935:p.His184Tyr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	78	16	0.205128	NM_207309	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454287	0.63290	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.16897	2.31;2.31	5.01	2.9	0.33743	.	0.272139	0.42053	D	0.000779	T	0.47728	0.1461	M	0.93062	3.375	0.22017	N	0.99942	D;D	0.63880	0.993;0.978	D;P	0.64144	0.922;0.689	T	0.52283	-0.8596	10	0.87932	D	0	.	14.3374	0.66600	0.2808:0.7192:0.0:0.0	.	184;61	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	Y	184;61	ENSP00000386935:H184Y;ENSP00000353409:H61Y	ENSP00000353409:H61Y	H	+	1	0	UAP1L1	139092830	0.204000	0.23447	0.634000	0.29324	0.941000	0.58515	0.800000	0.27042	1.104000	0.41587	0.561000	0.74099	CAC	.	.	none		0.622	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		T	139973009	C	T	139973009	3	4	18	1	0	0	0	0	1	0	0	0	16823	710	25	2	560	2	UAP1L1	9	139973009	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	6243524	139973009	1240422	124	4535										
ARHGAP21	57584	hgsc.bcm.edu	37	chr10	24910129	24910129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtgtcagtactggtgtactgGtttgctgtttgctcaatgat	12	6	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr10:24910129G>C	ENST00000396432.2	-	9	1181	c.695C>G	c.(694-696)aCc>aGc	p.T232S	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T19S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	231					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGTGTACTGGTTTGCTGTTT	0.488																																					p.T232S		Atlas-SNP	.											ARHGAP21,NS,carcinoma,+1,1	ARHGAP21	185	1	0			c.C695G						PASS	.						103	91	95					10																	24910129		2203	4300	6503	SO:0001583	missense	57584	exon9			GTACTGGTTTGCT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.695C>G	10.37:g.24910129G>C	ENSP00000379709:p.Thr232Ser	Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	357	87	0.243697	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642809	0.03531	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.43294	2.92;2.92;0.95;0.97	5.35	2.34	0.29019	.	1.015580	0.07822	N	0.959901	T	0.31638	0.0803	L	0.31294	0.92	0.09310	N	0.999997	B;B	0.13145	0.007;0.005	B;B	0.17722	0.019;0.008	T	0.26155	-1.0111	10	0.27082	T	0.32	.	9.346	0.38109	0.1111:0.2519:0.637:0.0	.	222;231	F8W9U9;Q5T5U3	.;RHG21_HUMAN	S	232;221;19;222;232;67	ENSP00000379709:T232S;ENSP00000365604:T19S;ENSP00000365592:T222S;ENSP00000405018:T232S	ENSP00000365604:T19S	T	-	2	0	ARHGAP21	24950135	0.930000	0.31532	0.329000	0.25429	0.430000	0.31655	1.225000	0.32551	0.713000	0.32060	0.650000	0.86243	ACC	.	.	none		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24910129	G	C	24910129	3	2	18	1	0	0	0	0	1	0	0	0	871	1261	44	4	5253	4	ARHGAP21	10	24910129	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		24910129	110624618	125	4536										
PPYR1	5540	hgsc.bcm.edu	37	chr10	47086871	47086871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccctgggcaccccatacaacTtctctgaacattgccaggat	7	15	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr10:47086871T>G	ENST00000395716.1	+	2	173	c.88T>G	c.(88-90)Ttc>Gtc	p.F30V	NPY4R_ENST00000374312.1_Missense_Mutation_p.F30V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	30					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCCATACAACTTCTCTGAACA	0.517																																					p.F30V		Atlas-SNP	.											PPYR1,NS,carcinoma,-2,1	PPYR1	54	1	0			c.T88G						scavenged	.						162	149	153					10																	47086871		2203	4300	6503	SO:0001583	missense	5540	exon3			TACAACTTCTCTG		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.88T>G	10.37:g.47086871T>G	ENSP00000379066:p.Phe30Val	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	228	32	0.140351	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	T	7.764	0.706034	0.15172	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.35421	1.31;1.31	4.78	2.33	0.28932	.	0.515322	0.21459	N	0.074187	T	0.27384	0.0672	L	0.60455	1.87	0.26222	N	0.979144	B	0.33022	0.394	B	0.23716	0.048	T	0.11817	-1.0572	10	0.31617	T	0.26	.	7.1302	0.25496	0.0:0.1902:0.0:0.8098	.	30	P50391	NPY4R_HUMAN	V	30	ENSP00000363431:F30V;ENSP00000379066:F30V	ENSP00000363431:F30V	F	+	1	0	PPYR1	46506877	0.994000	0.37717	0.987000	0.45799	0.266000	0.26442	1.294000	0.33365	0.357000	0.24183	-0.290000	0.09829	TTC	.	.	none		0.517	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			G	47086871	T	G	47086871	3	3	18	1	0	0	0	0	1	0	0	0	12416	1609	56	5	90	5	PPYR1	10	47086871	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	22176742	47086871	88447876	126	4537										
FAM21A	387680	hgsc.bcm.edu	37	chr10	51863831	51863831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttctcaaagtgcgagtaaGttaaaaggtgcgtctctgct	10	8	3	0	rs201489423	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr10:51863831G>C	ENST00000282633.5	+	18	1710	c.1665G>C	c.(1663-1665)aaG>aaC	p.K555N	FAM21A_ENST00000351071.6_Missense_Mutation_p.K555N|FAM21A_ENST00000399339.2_Missense_Mutation_p.K467N|FAM21A_ENST00000314664.7_Missense_Mutation_p.K555N	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	555					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K555N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GTGCGAGTAAGTTAAAAGGTG	0.373																																					p.K555N		Atlas-SNP	.											FAM21A,NS,carcinoma,0,1	FAM21A	32	1	1	Substitution - Missense(1)	prostate(1)	c.G1665C						scavenged	.																																			SO:0001583	missense	387680	exon18			GAGTAAGTTAAAA	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1665G>C	10.37:g.51863831G>C	ENSP00000282633:p.Lys555Asn	Somatic	826	8	0.00968523		WXS	Illumina HiSeq	Phase_I	914	21	0.0229759	NM_001005751	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	C	6.739	0.505070	0.12822	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.2	3.2	0.36748	.	0.179758	0.47455	D	0.000237	T	0.75766	0.3894	M	0.77616	2.38	0.38837	D	0.955976	B;B;D;B;B	0.69078	0.008;0.01;0.997;0.049;0.028	B;B;D;B;B	0.80764	0.016;0.019;0.994;0.079;0.017	T	0.78021	-0.2367	9	0.48119	T	0.1	-3.197	10.2638	0.43443	0.0:0.0:1.0:0.0	.	555;555;467;555;449	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	N	555;555;449;555;467	.	ENSP00000282633:K555N	K	+	3	2	FAM21A	51533837	0.997000	0.39634	0.828000	0.32881	0.253000	0.25986	3.117000	0.50407	1.510000	0.48803	0.184000	0.17185	AAG	.	.	weak		0.373	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		C	51863831	G	C	51863831	3	2	18	1	0	0	0	0	1	0	0	0	5540	1020	36	4	1735	4	FAM21A	10	51863831	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	4776960	51863831	83670916	127	4538										
RHOBTB1	9886	hgsc.bcm.edu	37	chr10	62631996	62631996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggagcatacactgttgtagTtggtgcagatgtggtgcaaa	14	5	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr10:62631996T>G	ENST00000337910.5	-	10	2205	c.1868A>C	c.(1867-1869)aAc>aCc	p.N623T	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.N623T|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	623					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACTGTTGTAGTTGGTGCAGAT	0.483																																					p.N623T		Atlas-SNP	.											.	RHOBTB1	61	.	0			c.A1868C						PASS	.						163	153	156					10																	62631996		2203	4300	6503	SO:0001583	missense	9886	exon10			TTGTAGTTGGTGC	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1868A>C	10.37:g.62631996T>G	ENSP00000338671:p.Asn623Thr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	104	24	0.230769	NM_014836		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771859	0.90108	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.22743	1.94;1.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.88775	2.98	0.80722	D	1	P	0.45078	0.85	P	0.48770	0.589	T	0.53872	-0.8377	10	0.87932	D	0	.	15.7833	0.78281	0.0:0.0:0.0:1.0	.	623	O94844	RHBT1_HUMAN	T	623	ENSP00000350595:N623T;ENSP00000338671:N623T	ENSP00000338671:N623T	N	-	2	0	RHOBTB1	62302002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.133000	0.65898	0.459000	0.35465	AAC	.	.	none		0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			G	62631996	T	G	62631996	3	3	18	1	0	0	0	0	1	0	0	0	13333	1725	60	5	230	5	RHOBTB1	10	62631996	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	10768165	62631996	72902751	128	4539										
NHLRC2	374354	hgsc.bcm.edu	37	chr10	115636657	115636657	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cagtagaccaagttactgatAgattggtaatagcagacact	9	7	0	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr10:115636657A>C	ENST00000369301.3	+	3	921	c.709A>C	c.(709-711)Aga>Cga	p.R237R		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	237										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AGTTACTGATAGATTGGTAAT	0.353																																					p.R237R		Atlas-SNP	.											.	NHLRC2	56	.	0			c.A709C						PASS	.						58	60	59					10																	115636657		2185	4291	6476	SO:0001819	synonymous_variant	374354	exon3			ACTGATAGATTGG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.709A>C	10.37:g.115636657A>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	75	13	0.173333	NM_198514	Q8N1H1|Q8N5A6	Silent	SNP	ENST00000369301.3	37	CCDS7585.1																																																																																			.	.	none		0.353	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		C	115636657	A	C	115636657	2	2	18	1	0	0	0	0	0	0	0	1	10406	412	15	5		5	NHLRC2	10	115636657	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	53004661	115636657	19898090	129	4540										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	664	24	0.0361446		WXS	Illumina HiSeq	Phase_I	675	29	0.042963	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	18	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10		1016849	133989667	130	4541	85	2	3	27		4	3	728	N	T_G_C	1.292344e-05
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	659	23	0.0349014		WXS	Illumina HiSeq	Phase_I	668	25	0.0374251	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	18	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	2	1016851	133989665	131	4542	85	2	3	27		4	3	728	N	T_G_C	1.292344e-05
MUC6	4588	hgsc.bcm.edu	37	chr11	1017483	1017483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttctggtgcctgtactggtgTggttgggggtgatgctggtg	19	5	1	1	rs79986665		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:1017483T>G	ENST00000421673.2	-	31	5368	c.5318A>C	c.(5317-5319)cAc>cCc	p.H1773P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1773	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGGTGTGGTTGGGGGT	0.577																																					p.H1773P		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.A5318C						scavenged	.						544	541	542					11																	1017483		2199	4294	6493	SO:0001583	missense	4588	exon31			CTGGTGTGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5318A>C	11.37:g.1017483T>G	ENSP00000406861:p.His1773Pro	Somatic	435	101	0.232184		WXS	Illumina HiSeq	Phase_I	426	92	0.215962	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	4.174	0.030796	0.08101	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.91	0.844	0.18943	.	.	.	.	.	T	0.04907	0.0132	N	0.01109	-1.01	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.43065	-0.9414	9	0.22706	T	0.39	.	6.6218	0.22808	0.0:0.1732:0.4682:0.3586	.	1773	Q6W4X9	MUC6_HUMAN	P	1773	ENSP00000406861:H1773P	ENSP00000406861:H1773P	H	-	2	0	MUC6	1007483	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	0.066000	0.16515	-0.743000	0.03520	CAC	T|0.500;G|0.500	0.500	weak		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017483	T	G	1017483	3	3	18	1	0	0	0	0	1	0	0	0	9980	1696	59	5	2013	5	MUC6	11	1017483	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	632	1017483	133989033	132	4543			3	27		4	3	728	N	T_G_C	1.292344e-05
MUC6	4588	hgsc.bcm.edu	37	chr11	1017576	1017576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gggatgtagaggttttggccGtgctaaatgagcttcgggat	16	5	0	2	rs372353242		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:1017576G>T	ENST00000421673.2	-	31	5275	c.5225C>A	c.(5224-5226)aCg>aAg	p.T1742K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTTTTGGCCGTGCTAAATGA	0.537																																					p.T1742K		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+1,2	MUC6	408	2	0			c.C5225A						PASS	.						688	670	676					11																	1017576		2188	4282	6470	SO:0001583	missense	4588	exon31			TTGGCCGTGCTAA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5225C>A	11.37:g.1017576G>T	ENSP00000406861:p.Thr1742Lys	Somatic	501	0	0		WXS	Illumina HiSeq	Phase_I	566	48	0.0848057	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	7.936	0.741705	0.15642	.	.	ENSG00000184956	ENST00000421673	T	0.25414	1.8	2.32	-2.37	0.06643	.	.	.	.	.	T	0.38532	0.1044	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.23547	-1.0185	9	0.59425	D	0.04	.	3.4316	0.07430	0.3783:0.0:0.4408:0.1809	.	1742	Q6W4X9	MUC6_HUMAN	K	1742	ENSP00000406861:T1742K	ENSP00000406861:T1742K	T	-	2	0	MUC6	1007576	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	0.978000	0.29488	-0.611000	0.05709	-0.643000	0.03959	ACG	.	.	alt		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017576	G	T	1017576	3	4	18	1	0	0	0	0	1	0	0	0	9980	1145	40	4	2106	4	MUC6	11	1017576	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	93	1017576	133988940	133	4544			3	27		4	3	728	N	T_G_C	1.292344e-05
HIPK3	10114	hgsc.bcm.edu	37	chr11	33374879	33374879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	accagtggcccacctgttagCctctccgtgtacctcaagac	8	16	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:33374879C>T	ENST00000303296.4	+	17	3718	c.3413C>T	c.(3412-3414)gCc>gTc	p.A1138V	HIPK3_ENST00000525975.1_Missense_Mutation_p.A1117V|HIPK3_ENST00000456517.1_Missense_Mutation_p.A1117V|HIPK3_ENST00000379016.3_Missense_Mutation_p.A1117V|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1138					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						CACCTGTTAGCCTCTCCGTGT	0.522																																					p.A1138V		Atlas-SNP	.											.	HIPK3	92	.	0			c.C3413T						PASS	.						220	181	194					11																	33374879		2202	4298	6500	SO:0001583	missense	10114	exon17			TGTTAGCCTCTCC	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.3413C>T	11.37:g.33374879C>T	ENSP00000304226:p.Ala1138Val	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	261	54	0.206897	NM_005734	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618437	0.87359	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.61274	0.12;0.15;0.12;0.12	6.16	5.25	0.73442	.	0.000000	0.64402	D	0.000013	T	0.74207	0.3686	M	0.61703	1.905	0.58432	D	0.999994	D;D	0.76494	0.999;0.985	D;P	0.72075	0.976;0.871	T	0.77395	-0.2604	10	0.72032	D	0.01	.	17.5986	0.88020	0.0:0.8766:0.1234:0.0	.	1117;1138	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	1117;1138;1117;1117	ENSP00000431710:A1117V;ENSP00000304226:A1138V;ENSP00000368301:A1117V;ENSP00000398241:A1117V	ENSP00000304226:A1138V	A	+	2	0	HIPK3	33331455	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.263000	0.78421	1.605000	0.50152	-0.181000	0.13052	GCC	.	.	none		0.522	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		T	33374879	C	T	33374879	3	4	18	1	0	0	0	0	1	0	0	0	7118	739	26	2	3475	2	HIPK3	11	33374879	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	32357303	33374879	101631637	134	4545										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	14	5	1	4	rs200778682	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																					p.I111T		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,4	TRIM48	149	4	0			c.T332C						scavenged	.						98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097	exon2			GTGGCATTCACAG	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr	Somatic	297	3	0.010101		WXS	Illumina HiSeq	Phase_I	293	6	0.0204778	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT	T|0.996;C|0.004	0.004	strong		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	18	1	0	0	0	0	1	0	0	0	16520	1493	52	2	338	2	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	21657784	55032663	79973853	135	4546										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579419	55579419	+	Silent	SNP	T	T	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acggtgtgttctctgattcaTttgtgcttagctcttaggat					rs34948392	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:55579419T>C	ENST00000333973.2	+	1	566	c.477T>C	c.(475-477)caT>caC	p.H159H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H159H(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCTGATTCATTTGTGCTTAG	0.443													N|||	525	0.104832	0.1884	0.0461	5008	,	,		22589	0.0813		0.0924	False		,,,				2504	0.0706				p.H159H		Atlas-SNP	.											OR5L1,NS,carcinoma,+2,3	OR5L1	145	3	1	Substitution - coding silent(1)	stomach(1)	c.T477C						scavenged	.	C		670,3730		63,544,1593	217	191	200		477	-4.7	0	11	dbSNP_126	200	725,7867		32,661,3603	no	coding-synonymous	OR5L1	NM_001004738.1		95,1205,5196	CC,CT,TT		8.4381,15.2273,10.7374		159/312	55579419	1395,11597	2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			GATTCATTTGTGC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.477T>C	11.37:g.55579419T>C		Somatic	408	1	0.00245098		WXS	Illumina HiSeq	Phase_I	401	56	0.139651	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			T|0.896;C|0.104	0.104	strong		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579419	T	C	55579419	2	2	18	1	0	0	0	0	0	0	0	1	11170	1490	52	2		2	OR5L1	11	55579419	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	546756	55579419	79427097	136	4547	86	3								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579421	55579421	+	Missense_Mutation	SNP	T	T	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggtgtgttctctgattcattTgtgcttagctcttaggatcc							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:55579421T>C	ENST00000333973.2	+	1	568	c.479T>C	c.(478-480)tTg>tCg	p.L160S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGATTCATTTGTGCTTAGCT	0.443																																					p.L160S		Atlas-SNP	.											.	OR5L1	145	.	0			c.T479C						PASS	.						218	191	200					11																	55579421		2200	4296	6496	SO:0001583	missense	219437	exon1			TTCATTTGTGCTT	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.479T>C	11.37:g.55579421T>C	ENSP00000335529:p.Leu160Ser	Somatic	407	0	0		WXS	Illumina HiSeq	Phase_I	404	57	0.141089	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	9.888	1.203401	0.22121	.	.	ENSG00000186117	ENST00000333973	T	0.00130	8.69	4.18	-3.36	0.04913	GPCR, rhodopsin-like superfamily (1);	0.749235	0.11513	N	0.556535	T	0.00109	0.0003	N	0.13272	0.32	0.09310	N	1	B	0.25105	0.118	B	0.33392	0.163	T	0.10154	-1.0642	10	0.62326	D	0.03	-5.254	7.8224	0.29294	0.1535:0.6254:0.0:0.2211	.	160	Q8NGL2	OR5L1_HUMAN	S	160	ENSP00000335529:L160S	ENSP00000335529:L160S	L	+	2	0	OR5L1	55335997	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.162000	0.10012	-0.600000	0.05790	0.358000	0.22013	TTG	.	.	none		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579421	T	C	55579421	3	2	18	1	0	0	0	0	1	0	0	0	11170	1821	63	2	481	2	OR5L1	11	55579421	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	2	55579421	79427095	137	4548	86	3								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579424	55579424	+	Missense_Mutation	SNP	G	G	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtgttctctgattcatttgtGcttagctcttaggatcccct							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:55579424G>C	ENST00000333973.2	+	1	571	c.482G>C	c.(481-483)tGc>tCc	p.C161S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCATTTGTGCTTAGCTCTT	0.448																																					p.C161S		Atlas-SNP	.											.	OR5L1	145	.	0			c.G482C						PASS	.						219	193	202					11																	55579424		2200	4296	6496	SO:0001583	missense	219437	exon1			ATTTGTGCTTAGC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.482G>C	11.37:g.55579424G>C	ENSP00000335529:p.Cys161Ser	Somatic	413	0	0		WXS	Illumina HiSeq	Phase_I	403	61	0.151365	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	7.397	0.632046	0.14322	.	.	ENSG00000186117	ENST00000333973	T	0.35789	1.29	4.18	0.752	0.18398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.14700	0.0355	N	0.02751	-0.505	0.09310	N	1	B	0.25105	0.118	B	0.33392	0.163	T	0.30707	-0.9969	10	0.21540	T	0.41	-20.2258	7.1232	0.25456	0.0:0.1433:0.3172:0.5395	.	161	Q8NGL2	OR5L1_HUMAN	S	161	ENSP00000335529:C161S	ENSP00000335529:C161S	C	+	2	0	OR5L1	55336000	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.323000	0.07997	0.187000	0.20147	0.435000	0.28638	TGC	.	.	none		0.448	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579424	G	C	55579424	3	2	18	1	0	0	0	0	1	0	0	0	11170	1319	46	4	484	4	OR5L1	11	55579424	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3	55579424	79427092	138	4549	86	3								
OR5D16	390144	hgsc.bcm.edu	37	chr11	55606497	55606497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctggtgaacctggttgtagaAgatagaaccatttcattctc	9	8	2	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:55606497A>T	ENST00000378396.1	+	1	270	c.270A>T	c.(268-270)gaA>gaT	p.E90D		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTTGTAGAAGATAGAACCA	0.418																																					p.E90D		Atlas-SNP	.											OR5D16,NS,carcinoma,+2,1	OR5D16	94	1	0			c.A270T						scavenged	.						199	195	196					11																	55606497		2201	4296	6497	SO:0001583	missense	390144	exon1			TGTAGAAGATAGA	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.270A>T	11.37:g.55606497A>T	ENSP00000367649:p.Glu90Asp	Somatic	306	2	0.00653595		WXS	Illumina HiSeq	Phase_I	317	70	0.22082	NM_001005496	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689090	0.29962	.	.	ENSG00000205029	ENST00000378396	T	0.09817	2.94	4.05	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08670	0.0215	L	0.39566	1.225	0.09310	N	1	B	0.21452	0.056	B	0.28784	0.094	T	0.37572	-0.9700	9	0.45353	T	0.12	-3.3486	1.9721	0.03408	0.5741:0.1682:0.0953:0.1625	.	90	Q8NGK9	OR5DG_HUMAN	D	90	ENSP00000367649:E90D	ENSP00000367649:E90D	E	+	3	2	OR5D16	55363073	0.000000	0.05858	0.355000	0.25773	0.899000	0.52679	-1.669000	0.01958	0.553000	0.29044	0.433000	0.28618	GAA	.	.	none		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		T	55606497	A	T	55606497	3	4	18	1	0	0	0	0	1	0	0	0	11156	69	3	5	272	5	OR5D16	11	55606497	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	27073	55606497	79400019	139	4550										
OR5M10	390167	hgsc.bcm.edu	37	chr11	56345100	56345100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccagtgtgattaggtagatcGccaggaacaccccaaacagg	11	11	0	2	rs182443406	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:56345100G>A	ENST00000526812.2	-	1	163	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TAGGTAGATCGCCAGGAACAC	0.488																																					p.A33V		Atlas-SNP	.											.	OR5M10	56	.	0			c.C98T						PASS	.						172	164	166					11																	56345100		1943	4142	6085	SO:0001583	missense	390167	exon1			TAGATCGCCAGGA	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.98C>T	11.37:g.56345100G>A	ENSP00000436004:p.Ala33Val	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	193	54	0.279793	NM_001004741	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867878	0.02590	.	.	ENSG00000254834	ENST00000526812	T	0.01304	5.03	4.04	-3.41	0.04839	.	.	.	.	.	T	0.00440	0.0014	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46020	-0.9221	9	0.02654	T	1	.	6.0359	0.19708	0.4:0.3341:0.266:0.0	.	33	Q6IEU7	OR5MA_HUMAN	V	33	ENSP00000436004:A33V	ENSP00000436004:A33V	A	-	2	0	OR5M10	56101676	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.474000	0.06607	-0.336000	0.08438	-1.035000	0.02400	GCG	G|0.999;T|0.001	.	alt		0.488	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		A	56345100	G	A	56345100	3	1	18	1	0	0	0	0	1	0	0	0	11173	1087	38	1	853	1	OR5M10	11	56345100	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	738603	56345100	78661416	140	4551										
OR10Q1	219960	hgsc.bcm.edu	37	chr11	57995634	57995634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtggagaaggcccggcggcgGccctcggcagaacggatgct	18	12	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:57995634G>T	ENST00000316770.2	-	1	756	c.714C>A	c.(712-714)ggC>ggA	p.G238G		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCCGGCGGCGGCCCTCGGCAG	0.627																																					p.G238G		Atlas-SNP	.											.	OR10Q1	79	.	0			c.C714A						PASS	.						56	52	54					11																	57995634		2201	4295	6496	SO:0001819	synonymous_variant	219960	exon1			GCGGCGGCCCTCG	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.714C>A	11.37:g.57995634G>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	12	0.171429	NM_001004471	Q6IFG4	Silent	SNP	ENST00000316770.2	37	CCDS31547.1																																																																																			.	.	none		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57995634	G	T	57995634	2	4	18	1	0	0	0	0	0	0	0	1	10916	1190	42	4		4	OR10Q1	11	57995634	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1650534	57995634	77010882	141	4552										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58978306	58978306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttcttgaacttccgggtgCcgtagatggccaaggtgata	12	9	2	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:58978306C>T	ENST00000361050.3	-	1	2118	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	678						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTCCGGGTGCCGTAGATGGC	0.547																																					p.G678D		Atlas-SNP	.											MPEG1,NS,carcinoma,-1,1	MPEG1	72	1	0			c.G2033A						PASS	.						133	135	134					11																	58978306		2039	4175	6214	SO:0001583	missense	219972	exon1			CGGGTGCCGTAGA	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2033G>A	11.37:g.58978306C>T	ENSP00000354335:p.Gly678Asp	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	208	57	0.274038	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047131	0.55110	.	.	ENSG00000197629	ENST00000361050	T	0.23950	1.88	5.54	4.61	0.57282	.	0.370520	0.28510	N	0.015081	T	0.41396	0.1157	M	0.64997	1.995	0.34444	D	0.699936	D	0.59767	0.986	P	0.56398	0.797	T	0.59273	-0.7485	10	0.66056	D	0.02	-20.5924	12.8488	0.57846	0.1634:0.8366:0.0:0.0	.	678	Q2M385	MPEG1_HUMAN	D	678	ENSP00000354335:G678D	ENSP00000354335:G678D	G	-	2	0	MPEG1	58734882	0.025000	0.19082	0.349000	0.25694	0.852000	0.48524	2.436000	0.44819	1.286000	0.44565	0.655000	0.94253	GGC	.	.	none		0.547	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58978306	C	T	58978306	3	4	18	1	0	0	0	0	1	0	0	0	9723	739	26	2	121	2	MPEG1	11	58978306	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	982672	58978306	76028210	142	4553										
MPEG1	219972	hgsc.bcm.edu	37	chr11	58979064	58979064	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggttgtaaccctcctcgtgGatctgggataacaggtgcac	12	10	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:58979064G>A	ENST00000361050.3	-	1	1360	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCTCCTCGTGGATCTGGGATA	0.542																																					p.I425I		Atlas-SNP	.											.	MPEG1	72	.	0			c.C1275T						PASS	.						75	72	73					11																	58979064		1934	4148	6082	SO:0001819	synonymous_variant	219972	exon1			CTCGTGGATCTGG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1275C>T	11.37:g.58979064G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	73	16	0.219178	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																			.	.	none		0.542	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58979064	G	A	58979064	2	1	18	1	0	0	0	0	0	0	0	1	9723	1164	41	2		2	MPEG1	11	58979064	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	758	58979064	76027452	143	4554										
CDC42BPG	55561	hgsc.bcm.edu	37	chr11	64591992	64591992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tagggggaggcttcggggccGttctgagacctgcaggagaa	18	8	1	2	rs138706676		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:64591992G>A	ENST00000342711.5	-	37	4608	c.4609C>T	c.(4609-4611)Cgg>Tgg	p.R1537W		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTTCGGGGCCGTTCTGAGACC	0.582																																					p.R1537W		Atlas-SNP	.											.	CDC42BPG	101	.	0			c.C4609T						PASS	.	G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	45	49	48		4609	2.2	1	11	dbSNP_134	48	0,8594		0,0,4297	no	missense	CDC42BPG	NM_017525.2	101	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1537/1552	64591992	1,12995	2201	4297	6498	SO:0001583	missense	55561	exon37			GGGGCCGTTCTGA	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4609C>T	11.37:g.64591992G>A	ENSP00000345133:p.Arg1537Trp	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	137	29	0.211679	NM_017525		Missense_Mutation	SNP	ENST00000342711.5	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338643	0.41398	2.27E-4	0.0	ENSG00000171219	ENST00000342711	T	0.71579	-0.58	4.33	2.24	0.28232	.	0.238745	0.21940	N	0.066899	T	0.64735	0.2625	L	0.36672	1.1	0.26162	N	0.979986	D	0.76494	0.999	P	0.50082	0.63	T	0.58042	-0.7706	10	0.59425	D	0.04	.	8.9266	0.35643	0.0:0.0:0.5967:0.4033	.	1537	Q6DT37	MRCKG_HUMAN	W	1537	ENSP00000345133:R1537W	ENSP00000345133:R1537W	R	-	1	2	CDC42BPG	64348568	0.951000	0.32395	0.989000	0.46669	0.948000	0.59901	1.490000	0.35573	0.939000	0.37446	0.555000	0.69702	CGG	G|1.000;A|0.000	0.000	weak		0.582	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		A	64591992	G	A	64591992	3	1	18	1	0	0	0	0	1	0	0	0	3074	1144	40	1	50	1	CDC42BPG	11	64591992	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	5612928	64591992	70414524	144	4555										
NUDT8	254552	hgsc.bcm.edu	37	chr11	67395800	67395800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atcccccagctcacctcctcCgagttgggcctgaggctctg	10	17	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:67395800C>T	ENST00000376693.2	-	3	408	c.399G>A	c.(397-399)tcG>tcA	p.S133S	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Silent_p.S133S	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	133	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						TCACCTCCTCCGAGTTGGGCC	0.622																																					p.S133S		Atlas-SNP	.											.	NUDT8	12	.	0			c.G399A						PASS	.						122	91	102					11																	67395800		2200	4294	6494	SO:0001819	synonymous_variant	254552	exon3			CTCCTCCGAGTTG	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"Nudix motif containing"	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.399G>A	11.37:g.67395800C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_181843	Q6ZW59	Silent	SNP	ENST00000376693.2	37	CCDS58151.1																																																																																			.	.	none		0.622	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		T	67395800	C	T	67395800	2	4	18	1	0	0	0	0	0	0	0	1	10745	639	23	1		1	NUDT8	11	67395800	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	2803808	67395800	67610716	145	4556										
NOX4	50507	hgsc.bcm.edu	37	chr11	89177362	89177362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttcactgtaattcactgagaAgttgagggcattcaccagat	9	8	3	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:89177362A>G	ENST00000263317.4	-	5	626	c.388T>C	c.(388-390)Ttc>Ctc	p.F130L	NOX4_ENST00000532825.1_Missense_Mutation_p.F106L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.F106L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.F130L|NOX4_ENST00000413594.2_Missense_Mutation_p.F151L|NOX4_ENST00000343727.5_Missense_Mutation_p.F106L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.F106L|NOX4_ENST00000527956.1_Missense_Mutation_p.F106L|NOX4_ENST00000535633.1_Missense_Mutation_p.F106L|NOX4_ENST00000528341.1_Missense_Mutation_p.F105L|NOX4_ENST00000525196.1_Missense_Mutation_p.F130L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	130	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTCACTGAGAAGTTGAGGGCA	0.453																																					p.F130L		Atlas-SNP	.											NOX4,NS,carcinoma,+1,1	NOX4	101	1	0			c.T388C						PASS	.						137	117	124					11																	89177362		2201	4299	6500	SO:0001583	missense	50507	exon5			CTGAGAAGTTGAG	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.388T>C	11.37:g.89177362A>G	ENSP00000263317:p.Phe130Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	104	28	0.269231	NM_001143836	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379180	0.61735	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.16	5.16	0.70880	Flavoprotein transmembrane component (1);	0.113019	0.64402	D	0.000011	D	0.91452	0.7302	L	0.31526	0.94	0.58432	D	0.999991	B;B;D;B;B	0.57257	0.017;0.395;0.979;0.01;0.144	B;B;D;B;B	0.71414	0.057;0.249;0.973;0.008;0.269	D	0.90606	0.4548	9	.	.	.	-16.4589	14.2622	0.66092	1.0:0.0:0.0:0.0	.	106;105;130;130;130	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	106;106;106;130;130;130;106;106;106;105;151	ENSP00000412446:F106L;ENSP00000440172:F106L;ENSP00000344747:F106L;ENSP00000436892:F130L;ENSP00000436716:F130L;ENSP00000263317:F130L;ENSP00000434924:F106L;ENSP00000433797:F106L;ENSP00000439373:F106L;ENSP00000436970:F105L;ENSP00000405705:F151L	.	F	-	1	0	NOX4	88817010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.714000	0.84703	2.070000	0.61991	0.460000	0.39030	TTC	.	.	none		0.453	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		G	89177362	A	G	89177362	3	3	18	1	0	0	0	0	1	0	0	0	10558	72	3	3	1404	3	NOX4	11	89177362	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	21781562	89177362	45829154	146	4557										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825374	95825374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgttgctgctgctgctgctgTtgctgctgctgctgctgctg	14	11	0	0	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:95825374T>C	ENST00000524717.1	-	2	3105	c.1821A>G	c.(1819-1821)caA>caG	p.Q607Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					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)	p.Q607Q(1)	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)				gctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q607Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,NS,carcinoma,0,1	MAML2	94	1	1	Substitution - coding silent(1)	endometrium(1)	c.A1821G						scavenged	.						27	35	33					11																	95825374		2008	3974	5982	SO:0001819	synonymous_variant	84441	exon2			CTGCTGTTGCTGC	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.1821A>G	11.37:g.95825374T>C		Somatic	134	4	0.0298507		WXS	Illumina HiSeq	Phase_I	195	6	0.0307692	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|1.000;|0.000	1.000	weak		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825374	T	C	95825374	2	2	18	1	0	0	0	0	0	0	0	1	9206	1722	60	2		2	MAML2	11	95825374	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	6648012	95825374	39181142	147	4558										
CCDC82	79780	hgsc.bcm.edu	37	chr11	96117597	96117597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttcttcatatgttgaaccGttgccagagttaatgagaca	8	8	3	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:96117597G>A	ENST00000278520.5	-	3	743	c.315C>T	c.(313-315)aaC>aaT	p.N105N	CCDC82_ENST00000423339.2_Silent_p.N105N|CCDC82_ENST00000542662.1_Silent_p.N105N|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	105								p.N105N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTGAACCGTTGCCAGAGT	0.338																																					p.N105N		Atlas-SNP	.											CCDC82,NS,carcinoma,0,1	CCDC82	63	1	1	Substitution - coding silent(1)	endometrium(1)	c.C315T						scavenged	.						194	185	188					11																	96117597		2201	4297	6498	SO:0001819	synonymous_variant	79780	exon4			TGAACCGTTGCCA	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.315C>T	11.37:g.96117597G>A		Somatic	428	0	0		WXS	Illumina HiSeq	Phase_I	484	7	0.0144628	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	CCDS8307.1																																																																																			.	.	none		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		A	96117597	G	A	96117597	2	1	18	1	0	0	0	0	0	0	0	1	2856	1136	40	1		1	CCDC82	11	96117597	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	292223	96117597	38888919	148	4559										
SORL1	6653	hgsc.bcm.edu	37	chr11	121323082	121323082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agggagtcgcgactcccgttCctattcaccctggtcgcact	10	15	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:121323082C>A	ENST00000260197.7	+	1	171	c.42C>A	c.(40-42)ttC>ttA	p.F14L	RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	14					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTCCCGTTCCTATTCACCC	0.697																																					p.F14L		Atlas-SNP	.											.	SORL1	218	.	0			c.C42A						PASS	.						12	11	12					11																	121323082		2181	4277	6458	SO:0001583	missense	6653	exon1			CCCGTTCCTATTC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.42C>A	11.37:g.121323082C>A	ENSP00000260197:p.Phe14Leu	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	55	12	0.218182	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826352	0.50739	.	.	ENSG00000137642	ENST00000260197	D	0.90444	-2.67	3.8	3.8	0.43715	.	0.671312	0.13420	N	0.389241	T	0.78861	0.4350	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70861	-0.4757	10	0.13470	T	0.59	.	11.0822	0.48066	0.0:1.0:0.0:0.0	.	14	Q92673	SORL_HUMAN	L	14	ENSP00000260197:F14L	ENSP00000260197:F14L	F	+	3	2	SORL1	120828292	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.878000	0.39608	1.985000	0.57927	0.442000	0.29010	TTC	.	.	none		0.697	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121323082	C	A	121323082	3	1	18	1	0	0	0	0	1	0	0	0	14934	854	30	4	44	4	SORL1	11	121323082	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	25205485	121323082	13683434	149	4560										
OR8B2	26595	hgsc.bcm.edu	37	chr11	124252524	124252524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgacatgagagctacaagtaCtgaaggcttttgatcttcct	9	8	1	4			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr11:124252524C>A	ENST00000375013.2	-	1	734	c.716G>T	c.(715-717)aGt>aTt	p.S239I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	239						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTACAAGTACTGAAGGCTTT	0.383																																					p.S239I		Atlas-SNP	.											.	OR8B2	42	.	0			c.G716T						PASS	.						56	61	59					11																	124252524		2196	4280	6476	SO:0001583	missense	26595	exon1			CAAGTACTGAAGG	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.716G>T	11.37:g.124252524C>A	ENSP00000364152:p.Ser239Ile	Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	357	69	0.193277	NM_001005468	Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388312	0.61956	.	.	ENSG00000204293	ENST00000375013	T	0.00302	8.2	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.080815	0.53938	D	0.000051	T	0.00695	0.0023	H	0.95151	3.63	0.19300	N	0.999979	P	0.51933	0.949	P	0.54210	0.745	T	0.13176	-1.0519	10	0.87932	D	0	.	10.3825	0.44121	0.0:0.6742:0.3258:0.0	.	239	Q96RD0	OR8B2_HUMAN	I	239	ENSP00000364152:S239I	ENSP00000364152:S239I	S	-	2	0	OR8B2	123757734	0.105000	0.21958	0.391000	0.26233	0.558000	0.35554	0.590000	0.23954	2.126000	0.65437	0.505000	0.49811	AGT	.	.	none		0.383	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		A	124252524	C	A	124252524	3	1	18	1	0	0	0	0	1	0	0	0	11227	565	20	4	228	4	OR8B2	11	124252524	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	2929442	124252524	10753992	150	4561										
CCND2	894	hgsc.bcm.edu	37	chr12	4383227	4383227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atggagctgctgtgccacgaGgtggacccggtccgcagggc	17	12	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:4383227G>A	ENST00000261254.3	+	1	290	c.21G>A	c.(19-21)gaG>gaA	p.E7E	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	7					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TGTGCCACGAGGTGGACCCGG	0.637			T	IGL@	"NHL,CLL"																																p.E7E		Atlas-SNP	.		Dom	yes		12	12p13	894	cyclin D2		L	.	CCND2	50	.	0			c.G21A						PASS	.						29	28	28					12																	4383227		2202	4298	6500	SO:0001819	synonymous_variant	894	exon1			CCACGAGGTGGAC	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.21G>A	12.37:g.4383227G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	83	21	0.253012	NM_001759	A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	CCDS8524.1																																																																																			.	.	none		0.637	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		A	4383227	G	A	4383227	2	1	18	1	0	0	0	0	0	0	0	1	2917	991	35	2		2	CCND2	12	4383227	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		4383227	129468668	151	4562										
MLL2	8085	hgsc.bcm.edu	37	chr12	49435941	49435941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aggtgagatggtggacagctGgcccaactcctcatccttct	11	12	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:49435941G>A	ENST00000301067.7	-	28	6039	c.6040C>T	c.(6040-6042)Cag>Tag	p.Q2014*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2014					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGACAGCTGGCCCAACTCC	0.577																																					p.Q2014X		Atlas-SNP	.											MLL2_ENST00000301067,bladder,carcinoma,0,2	MLL2	1173	2	0			c.C6040T						PASS	.						50	54	53					12																	49435941		2121	4221	6342	SO:0001587	stop_gained	8085	exon28			ACAGCTGGCCCAA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6040C>T	12.37:g.49435941G>A	ENSP00000301067:p.Gln2014*	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	16	0.231884	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	45	11.794231	0.99604	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.36338	N	0.002643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1167	0.59303	0.0:0.2705:0.7295:0.0	.	.	.	.	X	2014	.	ENSP00000301067:Q2014X	Q	-	1	0	MLL2	47722208	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.514000	0.60482	2.686000	0.91538	0.561000	0.74099	CAG	.	.	none		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49435941	G	A	49435941	4	1	18	1	0	0	0	0	0	1	0	0	9621	1357	47	2	10681	2	MLL2	12	49435941	Nonsense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	45052714	49435941	84415954	152	4563										
PAN2	10330	hgsc.bcm.edu	37	chr12	56712936	56712936	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggggcatatggaacaggtaGacagtgtcaaggacttggtc	15	7	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:56712936G>C	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Silent_p.V1104V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000440411.3_Silent_p.V1100V|PAN2_ENST00000425394.2_Silent_p.V1104V|PAN2_ENST00000257931.5_Silent_p.V1103V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GGAACAGGTAGACAGTGTCAA	0.493																																					p.V1104V		Atlas-SNP	.											.	PAN2	107	.	0			c.C3312G						PASS	.						100	92	95					12																	56712936		2203	4300	6503	SO:0001631	upstream_gene_variant	9924	exon24			CAGGTAGACAGTG	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712936G>C	Exception_encountered	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	131	30	0.229008	NM_001127460	B2R7B9|Q9UHE9	Silent	SNP	ENST00000273308.4	37	CCDS8914.1																																																																																			.	.	none		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		C	56712936	G	C	56712936	1	2	18	0	1	0	0	0	0	0	0	0	11414	929	33	4		4	PAN2	12	56712936	5'Flank	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	7276995	56712936	77138959	153	4564										
NAV3	89795	hgsc.bcm.edu	37	chr12	78571048	78571048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caagttaccccataatgctgGtgactgtggctcagcatcca	9	12	1	1	rs555983392		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:78571048G>T	ENST00000397909.2	+	27	5425	c.5252G>T	c.(5251-5253)gGt>gTt	p.G1751V	NAV3_ENST00000228327.6_Missense_Mutation_p.G1751V|NAV3_ENST00000266692.7_Missense_Mutation_p.G1574V|NAV3_ENST00000536525.2_Missense_Mutation_p.G1751V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1751						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAATGCTGGTGACTGTGGC	0.443										HNSCC(70;0.22)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.0				p.G1751V		Atlas-SNP	.											.	NAV3	506	.	0			c.G5252T						PASS	.						121	112	115					12																	78571048		1909	4132	6041	SO:0001583	missense	89795	exon27			ATGCTGGTGACTG	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5252G>T	12.37:g.78571048G>T	ENSP00000381007:p.Gly1751Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	171	68	0.397661	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.808147|1.808147	0.31961|0.31961	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.93076|.	-3.16;-3.16;-3.16;-3.16;-3.16|.	5.95|5.95	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.40818|.	U|.	0.001019|.	T|T	0.52468|0.52468	0.1736|0.1736	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;B;P;B|.	0.50617|.	0.57;0.001;0.937;0.017|.	B;B;B;B|.	0.43536|.	0.147;0.003;0.423;0.008|.	T|T	0.43147|0.43147	-0.9409|-0.9409	10|5	0.56958|.	D|.	0.05|.	-13.5845|-13.5845	10.0624|10.0624	0.42284|0.42284	0.0709:0.1386:0.7906:0.0|0.0709:0.1386:0.7906:0.0	.|.	1751;1574;1751;1751|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	V|C	1751;1751;1751;1574;365;373|645	ENSP00000446132:G1751V;ENSP00000381007:G1751V;ENSP00000228327:G1751V;ENSP00000266692:G1574V;ENSP00000448303:G373V|.	ENSP00000228327:G1751V|.	G|W	+|+	2|3	0|0	NAV3|NAV3	77095179|77095179	0.914000|0.914000	0.31030|0.31030	0.895000|0.895000	0.35142|0.35142	0.183000|0.183000	0.23260|0.23260	2.930000|2.930000	0.48924|0.48924	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGT|TGG	.	.	none		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78571048	G	T	78571048	3	4	18	1	0	0	0	0	1	0	0	0	10185	1261	44	4	5358	4	NAV3	12	78571048	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	21858112	78571048	55280847	154	4565										
BTG1	694	hgsc.bcm.edu	37	chr12	92537899	92537899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgtagtttttggaagggctcGttctgcccaagagaagttcc	12	8	1	1	rs544927217		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:92537899G>A	ENST00000256015.3	-	2	834	c.473C>T	c.(472-474)aCg>aTg	p.T158M	C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000551843.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	158					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GGAAGGGCTCGTTCTGCCCAA	0.428			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T158M		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	0			c.C473T						PASS	.						94	81	85					12																	92537899		2203	4300	6503	SO:0001583	missense	694	exon2			GGGCTCGTTCTGC		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.473C>T	12.37:g.92537899G>A	ENSP00000256015:p.Thr158Met	Somatic	92	0	0	1291	WXS	Illumina HiSeq	Phase_I	146	18	0.123288	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671909	0.67928	.	.	ENSG00000133639	ENST00000256015;ENST00000552315	T;T	0.36878	1.81;1.23	5.27	5.27	0.74061	Anti-proliferative protein (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	T	0.50233	-0.8852	10	0.87932	D	0	-3.6362	19.0956	0.93249	0.0:0.0:1.0:0.0	.	158	P62324	BTG1_HUMAN	M	158;83	ENSP00000256015:T158M;ENSP00000447551:T83M	ENSP00000256015:T158M	T	-	2	0	BTG1	91062030	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.601000	0.82783	2.733000	0.93635	0.650000	0.86243	ACG	.	.	none		0.428	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92537899	G	A	92537899	3	1	18	1	0	0	0	0	1	0	0	0	1553	1145	40	1	46	1	BTG1	12	92537899	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	13966851	92537899	41313996	155	4566										
BTG1	694	hgsc.bcm.edu	37	chr12	92537992	92537992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgctacctcctgctggtgagGcttcatacagcacacagatg	10	12	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:92537992G>A	ENST00000256015.3	-	2	741	c.380C>T	c.(379-381)gCc>gTc	p.A127V	C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000551843.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	127					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TGCTGGTGAGGCTTCATACAG	0.517			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A127V		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	0			c.C380T						PASS	.						111	99	103					12																	92537992		2203	4300	6503	SO:0001583	missense	694	exon2			GGTGAGGCTTCAT		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.380C>T	12.37:g.92537992G>A	ENSP00000256015:p.Ala127Val	Somatic	93	0	0	1291	WXS	Illumina HiSeq	Phase_I	158	33	0.208861	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783019	0.49891	.	.	ENSG00000133639	ENST00000256015;ENST00000552315	T;T	0.31769	1.89;1.48	5.8	5.8	0.92144	Anti-proliferative protein (1);	0.052045	0.85682	D	0.000000	T	0.47875	0.1469	L	0.51422	1.61	0.40184	D	0.977322	P	0.37688	0.605	P	0.51297	0.665	T	0.33189	-0.9878	10	0.52906	T	0.07	-8.3568	20.0608	0.97674	0.0:0.0:1.0:0.0	.	127	P62324	BTG1_HUMAN	V	127;52	ENSP00000256015:A127V;ENSP00000447551:A52V	ENSP00000256015:A127V	A	-	2	0	BTG1	91062123	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.413000	0.97351	2.733000	0.93635	0.650000	0.86243	GCC	.	.	none		0.517	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92537992	G	A	92537992	3	1	18	1	0	0	0	0	1	0	0	0	1553	1203	42	2	139	2	BTG1	12	92537992	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	93	92537992	41313903	156	4567										
DTX1	1840	hgsc.bcm.edu	37	chr12	113496132	113496132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccctacacggccaccgtgtgCcaccacattgagaacgtgct	9	16	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:113496132C>T	ENST00000257600.3	+	1	638	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	45	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCACCGTGTGCCACCACATTG	0.647																																					p.C45C		Atlas-SNP	.											.	DTX1	83	.	0			c.C135T						PASS	.						103	90	94					12																	113496132		2203	4300	6503	SO:0001819	synonymous_variant	1840	exon1			CGTGTGCCACCAC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.135C>T	12.37:g.113496132C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	89	10	0.11236	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.	.	none		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113496132	C	T	113496132	2	4	18	1	0	0	0	0	0	0	0	1	4793	747	26	2		2	DTX1	12	113496132	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	20958140	113496132	20355763	157	4568										
TBX5	6910	hgsc.bcm.edu	37	chr12	114836488	114836488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtctgggtgcacgtacaggcGgccaggcatggcgggctcag	18	11	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr12:114836488G>A	ENST00000310346.4	-	5	1066	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	TBX5_ENST00000526441.1_Missense_Mutation_p.R134C|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.R134C|TBX5_ENST00000349716.5_Missense_Mutation_p.R84C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	134					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGTACAGGCGGCCAGGCATG	0.622																																					p.R134C	NSCLC(152;1358 1980 4050 23898 40356)	Atlas-SNP	.											.	TBX5	188	.	0			c.C400T						PASS	.						48	41	43					12																	114836488		2203	4300	6503	SO:0001583	missense	6910	exon5			ACAGGCGGCCAGG	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.400C>T	12.37:g.114836488G>A	ENSP00000309913:p.Arg134Cys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	118	51	0.432203	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275640	0.59649	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.56	3.66	0.41972	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.973;1.0	D	0.92576	0.6070	10	0.38643	T	0.18	.	10.5224	0.44927	0.0:0.1237:0.6601:0.2162	.	134;134	Q99593-2;Q99593	.;TBX5_HUMAN	C	84;134;31;134;134	ENSP00000337723:R84C;ENSP00000309913:R134C;ENSP00000384152:R134C;ENSP00000433292:R134C	ENSP00000309913:R134C	R	-	1	0	TBX5	113320871	0.990000	0.36364	0.980000	0.43619	0.586000	0.36452	2.065000	0.41442	1.231000	0.43661	0.655000	0.94253	CGC	.	.	none		0.622	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114836488	G	A	114836488	3	1	18	1	0	0	0	0	1	0	0	0	15658	1116	39	1	1243	1	TBX5	12	114836488	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1340356	114836488	19015407	158	4569										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	306	2	0.00653595		WXS	Illumina HiSeq	Phase_I	396	7	0.0176768	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	18	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10		20056679	95113199	159	4570										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caacacagacagtgggtccaCgtcctgcagctgctgctgct	11	14	0	1	rs113416318	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491				p.R487C		Atlas-SNP	.											PABPC3,rectum,carcinoma,0,1	PABPC3	129	1	0			c.C1459T						scavenged	.																																			SO:0001583	missense	5042	exon1			GGTCCACGTCCTG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys	Somatic	73	2	0.0273973		WXS	Illumina HiSeq	Phase_I	82	5	0.0609756	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT	C|0.988;T|0.012	0.012	strong		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	18	1	0	0	0	0	1	0	0	0	11365	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	5615116	25671795	89498083	160	4571										
TSC22D1	8848	hgsc.bcm.edu	37	chr13	45009000	45009000	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttctctgaccgcatacatcAaatggcttttcactagatcc	5	13	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr13:45009000A>C	ENST00000458659.2	-	3	3474	c.2984T>G	c.(2983-2985)tTg>tGg	p.L995W	TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000261489.2_Missense_Mutation_p.L66W	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	995					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGCATACATCAAATGGCTTTT	0.378																																					p.L995W		Atlas-SNP	.											.	TSC22D1	88	.	0			c.T2984G						PASS	.						104	113	110					13																	45009000		2203	4300	6503	SO:0001583	missense	8848	exon3			TACATCAAATGGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2984T>G	13.37:g.45009000A>C	ENSP00000397435:p.Leu995Trp	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	187	57	0.304813	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977062	0.74360	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	D	0.83075	-1.68	5.72	5.72	0.89469	.	0.569269	0.14836	N	0.295563	D	0.90783	0.7106	M	0.76938	2.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.937	D	0.90788	0.4684	10	0.87932	D	0	.	14.02	0.64547	1.0:0.0:0.0:0.0	.	995;66	Q15714;Q15714-2	T22D1_HUMAN;.	W	995;66	ENSP00000397435:L995W	ENSP00000261489:L66W	L	-	2	0	TSC22D1	43907000	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.188000	0.69820	0.529000	0.55759	TTG	.	.	none		0.378	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		C	45009000	A	C	45009000	3	2	18	1	0	0	0	0	1	0	0	0	16604	131	5	5	241	5	TSC22D1	13	45009000	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	19337205	45009000	70160878	161	4572										
HECTD1	25831	hgsc.bcm.edu	37	chr14	31626395	31626395	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgatccaggacagttgcagtGatttccactagtattgtagg	11	7	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr14:31626395G>T	ENST00000399332.1	-	11	2225	c.1737C>A	c.(1735-1737)atC>atA	p.I579I	HECTD1_ENST00000553700.1_Silent_p.I579I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	579					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGTTGCAGTGATTTCCACTA	0.323																																					p.I579I		Atlas-SNP	.											.	HECTD1	159	.	0			c.C1737A						PASS	.						181	171	174					14																	31626395		1847	4099	5946	SO:0001819	synonymous_variant	25831	exon11			TGCAGTGATTTCC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1737C>A	14.37:g.31626395G>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	320	79	0.246875	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1																																																																																			.	.	none		0.323	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31626395	G	T	31626395	2	4	18	1	0	0	0	0	0	0	0	1	7039	1280	45	4		4	HECTD1	14	31626395	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		31626395	75723145	162	4573										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493791	77493791	+	Silent	SNP	C	C	T													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgctgctgctgctgctgctgCtgttgctgctgctgctgctg					rs377151545		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr14:77493791C>T	ENST00000238647.3	-	1	1243	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	115	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgctgttgctgct	0.697																																					p.Q115Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.G345A						PASS	.						2	2	2					14																	77493791		1245	2269	3514	SO:0001819	synonymous_variant	64207	exon1			CTGCTGCTGTTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.345G>A	14.37:g.77493791C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	46	10	0.217391	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	none		0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		T	77493791	C	T	77493791	2	4	18	1	0	0	0	0	0	0	0	1	1773	796	28	2		2	C14orf4	14	77493791	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	45867396	77493791	29855749	163	4574	87	2								
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493794	77493794	+	Silent	SNP	T	T	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgctgctgctgctgctgctgTtgctgctgctgctgctgctg					rs377151545|rs28718623|rs71125518	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr14:77493794T>C	ENST00000238647.3	-	1	1240	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgttgctgctgct	0.697													T|||	1146	0.228834	0.1649	0.1758	5008	,	,		5976	0.2659		0.2614	False		,,,				2504	0.2812				p.Q114Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.A342G						PASS	.	-		160,2330		6,148,1091	2	2	2		342	0.6	0	14	dbSNP_125	2	324,4012		7,310,1851	no	coding-synonymous	IRF2BPL	NM_024496.2		13,458,2942	CC,CT,TT		7.4723,6.4257,7.0905		114/797	77493794	484,6342	1245	2168	3413	SO:0001819	synonymous_variant	64207	exon1			CTGCTGTTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342A>G	14.37:g.77493794T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	28	25	0.892857	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	weak		0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		C	77493794	T	C	77493794	2	2	18	1	0	0	0	0	0	0	0	1	1773	1722	60	2		2	C14orf4	14	77493794	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	3	77493794	29855746	164	4575	87	2								
ADCK1	57143	hgsc.bcm.edu	37	chr14	78392248	78392248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttgcctgcatgctgacggcgCgatcgtgggactcggtcaac	14	12	1	1	rs142956948	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr14:78392248C>T	ENST00000238561.5	+	9	1249	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Nonsense_Mutation_p.R316*	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	391	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R316*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTGACGGCGCGATCGTGGGA	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		17780	0.0		0.002	False		,,,				2504	0.0				p.R384X		Atlas-SNP	.											ADCK1,colon,carcinoma,0,1	ADCK1	81	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1150T						scavenged	.						150	153	152					14																	78392248		2203	4300	6503	SO:0001587	stop_gained	57143	exon9			ACGGCGCGATCGT	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1150C>T	14.37:g.78392248C>T	ENSP00000238561:p.Arg384*	Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	92	17	0.184783	NM_020421	B3KUD5|Q6PD65|Q9UIE6	Nonsense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	21.1	4.096859	0.76870	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	.	.	.	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.0779	13.4374	0.61092	0.3432:0.6568:0.0:0.0	.	.	.	.	X	384;316	.	ENSP00000238561:R384X	R	+	1	2	ADCK1	77462001	1.000000	0.71417	0.911000	0.35937	0.100000	0.18952	4.008000	0.57103	1.215000	0.43411	-0.165000	0.13383	CGA	C|0.999;T|0.001	0.001	strong		0.602	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		T	78392248	C	T	78392248	4	4	18	1	0	0	0	0	0	1	0	0	288	760	27	1	1180	1	ADCK1	14	78392248	Nonsense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	898454	78392248	28957292	165	4576										
C15orf43	145645	hgsc.bcm.edu	37	chr15	45270701	45270701	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttgtaggttatatatcaattGatgccatgaagaaattcctt	7	5	1	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:45270701G>A	ENST00000340827.3	+	7	555	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	180										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TATATCAATTGATGCCATGAA	0.299																																					p.D180N		Atlas-SNP	.											.	C15orf43	19	.	0			c.G538A						PASS	.						47	50	49					15																	45270701		2193	4284	6477	SO:0001583	missense	145645	exon7			TCAATTGATGCCA	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.538G>A	15.37:g.45270701G>A	ENSP00000340644:p.Asp180Asn	Somatic	397	0	0		WXS	Illumina HiSeq	Phase_I	498	109	0.218875	NM_152448		Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653183	0.47362	.	.	ENSG00000167014	ENST00000340827	T	0.67523	-0.27	4.05	3.12	0.35913	.	0.199441	0.32106	N	0.006577	T	0.68220	0.2977	L	0.29908	0.895	0.26427	N	0.976005	D	0.67145	0.996	D	0.77557	0.99	T	0.57825	-0.7744	10	0.52906	T	0.07	.	7.923	0.29857	0.1204:0.0:0.8796:0.0	.	180	Q8NHR7	CO043_HUMAN	N	180	ENSP00000340644:D180N	ENSP00000340644:D180N	D	+	1	0	C15orf43	43057993	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	2.150000	0.42254	0.813000	0.34350	0.298000	0.19748	GAT	.	.	none		0.299	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		A	45270701	G	A	45270701	3	1	18	1	0	0	0	0	1	0	0	0	1797	1290	45	2	564	2	C15orf43	15	45270701	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		45270701	57260691	166	4577										
DUOX2	50506	hgsc.bcm.edu	37	chr15	45404810	45404810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggcaggccggctatgccccgCgtggctgcgttgctgagccg	17	14	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:45404810C>T	ENST00000603300.1	-	4	469	c.267G>A	c.(265-267)acG>acA	p.T89T	DUOX2_ENST00000389039.6_Silent_p.T89T|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	89	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTATGCCCCGCGTGGCTGCGT	0.672																																					p.T89T		Atlas-SNP	.											.	DUOX2	137	.	0			c.G267A						PASS	.						26	30	29					15																	45404810		2191	4277	6468	SO:0001819	synonymous_variant	50506	exon4			GCCCCGCGTGGCT	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.267G>A	15.37:g.45404810C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	82	16	0.195122	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																			.	.	none		0.672	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45404810	C	T	45404810	2	4	18	1	0	0	0	0	0	0	0	1	4801	755	27	1		1	DUOX2	15	45404810	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	134109	45404810	57126582	167	4578										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45427482	45427482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acggagtcccagcaatccccGggacccggtgaggcggggaa	16	13	0	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:45427482G>A	ENST00000321429.4	+	6	895	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R163Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	163	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATCCCCGGGACCCGGTG	0.736																																					p.R163Q		Atlas-SNP	.											.	DUOX1	125	.	0			c.G488A						PASS	.						8	10	9					15																	45427482		2133	4212	6345	SO:0001583	missense	53905	exon6			ATCCCCGGGACCC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.488G>A	15.37:g.45427482G>A	ENSP00000317997:p.Arg163Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	77	16	0.207792	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.966816	0.92855	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.72394	-0.65;-0.65	3.55	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91007	0.4847	10	0.87932	D	0	-29.494	13.0686	0.59048	0.0:0.0:1.0:0.0	.	163	Q9NRD9	DUOX1_HUMAN	Q	163	ENSP00000317997:R163Q;ENSP00000373689:R163Q	ENSP00000317997:R163Q	R	+	2	0	DUOX1	43214774	1.000000	0.71417	0.994000	0.49952	0.739000	0.42172	4.852000	0.62904	1.976000	0.57569	0.454000	0.30748	CGG	.	.	none		0.736	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45427482	G	A	45427482	3	1	18	1	0	0	0	0	1	0	0	0	4800	1116	39	1	502	1	DUOX1	15	45427482	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	22672	45427482	57103910	168	4579										
ISLR	3671	hgsc.bcm.edu	37	chr15	74468257	74468257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcccggtgagggtggtgaggAcacactggggcgcaggttcc	19	10	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:74468257A>G	ENST00000249842.3	+	2	1415	c.1058A>G	c.(1057-1059)gAc>gGc	p.D353G	ISLR_ENST00000395118.1_Missense_Mutation_p.D353G|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	353					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGTGGTGAGGACACACTGGGG	0.627																																					p.D353G		Atlas-SNP	.											.	ISLR	49	.	0			c.A1058G						PASS	.						92	75	81					15																	74468257		2198	4297	6495	SO:0001583	missense	3671	exon2			GTGAGGACACACT	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1058A>G	15.37:g.74468257A>G	ENSP00000249842:p.Asp353Gly	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	53	11	0.207547	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	A	6.017	0.371486	0.11409	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.64260	-0.09;-0.09	4.54	4.54	0.55810	.	0.000000	0.44902	U	0.000416	T	0.39784	0.1091	N	0.08118	0	0.34788	D	0.735477	B	0.30793	0.295	B	0.27608	0.081	T	0.50693	-0.8798	10	0.21014	T	0.42	.	13.8818	0.63686	1.0:0.0:0.0:0.0	.	353	O14498	ISLR_HUMAN	G	353	ENSP00000249842:D353G;ENSP00000378550:D353G	ENSP00000249842:D353G	D	+	2	0	ISLR	72255310	0.998000	0.40836	0.339000	0.25562	0.004000	0.04260	4.428000	0.59894	1.687000	0.51057	0.402000	0.26972	GAC	.	.	none		0.627	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		G	74468257	A	G	74468257	3	3	18	1	0	0	0	0	1	0	0	0	7858	275	10	2	1060	2	ISLR	15	74468257	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	29040775	74468257	28063135	169	4580										
MESDC2	23184	hgsc.bcm.edu	37	chr15	81271769	81271769	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtccttgatctcccaggcgtAgctcccatcgcgaagcatga	10	14	1	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:81271769A>C	ENST00000261758.4	-	3	582	c.496T>G	c.(496-498)Tac>Gac	p.Y166D	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	166	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCCAGGCGTAGCTCCCATCG	0.532																																					p.Y166D		Atlas-SNP	.											.	MESDC2	23	.	0			c.T496G						PASS	.						75	70	72					15																	81271769		2203	4300	6503	SO:0001583	missense	23184	exon3			AGGCGTAGCTCCC	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.496T>G	15.37:g.81271769A>C	ENSP00000261758:p.Tyr166Asp	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	50	17	0.34	NM_015154	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413065	0.62511	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.9	5.9	0.94986	.	0.142736	0.48286	D	0.000198	T	0.58075	0.2097	L	0.56769	1.78	0.50171	D	0.999853	P	0.41232	0.743	B	0.41174	0.349	T	0.58393	-0.7644	9	0.37606	T	0.19	-5.1443	16.378	0.83412	1.0:0.0:0.0:0.0	.	166	Q14696	MESD_HUMAN	D	166	.	ENSP00000261758:Y166D	Y	-	1	0	MESDC2	79058824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.304000	0.51866	2.277000	0.76020	0.529000	0.55759	TAC	.	.	none		0.532	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		C	81271769	A	C	81271769	3	2	18	1	0	0	0	0	1	0	0	0	9481	420	15	5	212	5	MESDC2	15	81271769	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	6803512	81271769	21259623	170	4581										
SV2B	9899	hgsc.bcm.edu	37	chr15	91835705	91835705	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccaaagtggtccccatccttCtggctgctgcttctctggtt	9	14	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr15:91835705C>T	ENST00000394232.1	+	13	2445	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	SV2B_ENST00000545111.2_Silent_p.L508L|SV2B_ENST00000330276.4_Silent_p.L659L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	659					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCCCATCCTTCTGGCTGCTGC	0.507																																					p.L659L		Atlas-SNP	.											.	SV2B	98	.	0			c.C1975T						PASS	.						133	124	127					15																	91835705		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon14			ATCCTTCTGGCTG	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1975C>T	15.37:g.91835705C>T		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	218	53	0.243119	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			.	.	none		0.507	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91835705	C	T	91835705	2	4	18	1	0	0	0	0	0	0	0	1	15415	912	32	2		2	SV2B	15	91835705	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	10563936	91835705	10695687	171	4582										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2816224	2816224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttcaccagtcagccggagaCggtcaaggtccaggacttca	11	13	4	1	rs151100831	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:2816224C>T	ENST00000301740.8	+	11	6244	c.5695C>T	c.(5695-5697)Cgg>Tgg	p.R1899W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1899	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCCGGAGACGGTCAAGGTC	0.592																																					p.R1899W		Atlas-SNP	.											SRRM2,colon,carcinoma,0,1	SRRM2	263	1	0			c.C5695T						PASS	.						104	100	101					16																	2816224		2198	4300	6498	SO:0001583	missense	23524	exon11			CGGAGACGGTCAA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5695C>T	16.37:g.2816224C>T	ENSP00000301740:p.Arg1899Trp	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	73	42	0.575342	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737664	0.03111	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26373	1.74	5.46	3.27	0.37495	.	0.000000	0.56097	D	0.000040	T	0.25717	0.0626	N	0.08118	0	0.31050	N	0.715362	D	0.89917	1.0	D	0.77557	0.99	T	0.10222	-1.0639	10	0.72032	D	0.01	-8.5524	7.212	0.25939	0.3166:0.5967:0.0:0.0867	.	1899	Q9UQ35	SRRM2_HUMAN	W	1899;1899;1151	ENSP00000301740:R1899W	ENSP00000301740:R1899W	R	+	1	2	SRRM2	2756225	0.982000	0.34865	0.993000	0.49108	0.970000	0.65996	1.597000	0.36729	1.280000	0.44463	0.650000	0.86243	CGG	C|0.999;A|0.001	.	alt		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2816224	C	T	2816224	3	4	18	1	0	0	0	0	1	0	0	0	15168	527	19	1	5733	1	SRRM2	16	2816224	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10		2816224	87538529	172	4583										
UBN1	29855	hgsc.bcm.edu	37	chr16	4910954	4910954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggacttggagcatctgctcAgtgagtctccagaaggaagt	13	8	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:4910954A>G	ENST00000396658.4	+	6	1664	c.961A>G	c.(961-963)Agt>Ggt	p.S321G	UBN1_ENST00000262376.6_Missense_Mutation_p.S321G|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.S321G|UBN1_ENST00000545171.1_Missense_Mutation_p.S321G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	321					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCATCTGCTCAGTGAGTCTCC	0.552																																					p.S321G		Atlas-SNP	.											.	UBN1	88	.	0			c.A961G						PASS	.						110	99	102					16																	4910954		2197	4300	6497	SO:0001583	missense	29855	exon7			CTGCTCAGTGAGT	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.961A>G	16.37:g.4910954A>G	ENSP00000379894:p.Ser321Gly	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	100	53	0.53	NM_001079514	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775994	0.31411	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46451	1.46;0.87;1.46	5.77	5.77	0.91146	.	0.199192	0.56097	D	0.000028	T	0.29945	0.0749	L	0.28274	0.84	0.32091	N	0.591818	B;B	0.22346	0.063;0.068	B;B	0.15484	0.013;0.009	T	0.31641	-0.9936	10	0.33141	T	0.24	-9.2052	12.0518	0.53511	0.871:0.0:0.0:0.129	.	321;321	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	G	321	ENSP00000262376:S321G;ENSP00000442379:S321G;ENSP00000379894:S321G	ENSP00000262376:S321G	S	+	1	0	UBN1	4850955	0.822000	0.29219	1.000000	0.80357	0.997000	0.91878	1.248000	0.32827	2.326000	0.78906	0.533000	0.62120	AGT	.	.	none		0.552	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		G	4910954	A	G	4910954	3	3	18	1	0	0	0	0	1	0	0	0	16889	188	7	3	983	3	UBN1	16	4910954	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	2094730	4910954	85443799	173	4584										
A2BP1	54715	hgsc.bcm.edu	37	chr16	7759118	7759118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cttgctccagcccccacctaCggcgttggtgccatggtgag	12	15	0	1	rs372365163		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:7759118C>T	ENST00000550418.1	+	15	2044	c.1056C>T	c.(1054-1056)taC>taT	p.Y352Y	RBFOX1_ENST00000552089.1_Missense_Mutation_p.T387M|RBFOX1_ENST00000553186.1_Silent_p.Y325Y|RBFOX1_ENST00000547338.1_Silent_p.Y352Y|RBFOX1_ENST00000436368.2_Silent_p.Y373Y|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T391M|RBFOX1_ENST00000311745.5_Silent_p.Y373Y|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T327M|RBFOX1_ENST00000340209.4_Silent_p.Y357Y|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T413M|RBFOX1_ENST00000422070.4_Silent_p.Y395Y	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	352					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCCACCTACGGCGTTGGTG	0.547																																					p.T391M	Ovarian(157;934 2567 15163 39509)	Atlas-SNP	.											RBFOX1_ENST00000550418,NS,carcinoma,0,3	RBFOX1	341	3	0			c.C1172T						PASS	.	C	,,,,,MET/THR	0,4394		0,0,2197	161	145	151		975,1056,1056,1119,1119,1172	5.7	1	16		151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	,,,,,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	325/371,352/398,352/398,373/419,373/393,391/396	7759118	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	54715	exon13			CACCTACGGCGTT	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1056C>T	16.37:g.7759118C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	193	96	0.497409	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585513	0.66105	0.0	1.16E-4	ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637	T;T	0.32515	1.45;1.68	5.65	5.65	0.86999	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.94	D;B	0.83275	0.996;0.37	T	0.64816	-0.6318	8	0.87932	D	0	-6.3857	19.7329	0.96190	0.0:1.0:0.0:0.0	.	327;391	F5H0M1;Q9NWB1-5	.;.	M	413;327;387;391	ENSP00000446842:T413M;ENSP00000347855:T391M	ENSP00000347855:T391M	T	+	2	0	RBFOX1	7699119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.476000	0.66793	2.661000	0.90470	0.557000	0.71058	ACG	.	.	weak		0.547	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7759118	C	T	7759118	2	4	18	1	0	0	0	0	0	0	0	1	3	548	19	1		1	A2BP1	16	7759118	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	2848164	7759118	82595635	174	4585										
GGA2	23062	hgsc.bcm.edu	37	chr16	23521643	23521643	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggcctgccaggctactcactGagccacagctccagcgacgc	11	17	1	1	rs17844840|rs1071685	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:23521643G>C	ENST00000309859.4	-	1	172	c.90C>G	c.(88-90)ctC>ctG	p.L30L	GGA2_ENST00000567468.1_Splice_Site_p.L30L	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	30					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCTACTCACTGAGCCACAGCT	0.781													G|||	3460	0.690895	0.5756	0.7291	5008	,	,		7234	0.6964		0.8131	False		,,,				2504	0.6881				p.L30L		Atlas-SNP	.											.	GGA2	49	.	0			c.C90G						PASS	.						1	1	1					16																	23521643		725	1470	2195	SO:0001630	splice_region_variant	23062	exon1			CTCACTGAGCCAC	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.91+1C>G	16.37:g.23521643G>C		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	13	7	0.538462	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																			G|0.291;C|0.709	0.709	strong		0.781	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		Silent	C	23521643	G	C	23521643	5	2	18	1	0	0	0	0	0	0	1	0	6353	1304	45	4	1819	4	GGA2	16	23521643	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	15762525	23521643	66833110	175	4586										
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1.0	1.0	1.0	5008	,	,		3757	1.0		1.0	False		,,,				2504	1.0				p.R96W		Atlas-SNP	.											.	CCDC102A	22	.	0			c.C286T						PASS	.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_033212	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999	0.999	strong		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	18	1	0	0	0	0	1	0	0	0	2736	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	34041161	57562804	32791949	176	4587										
RPL13	6137	hgsc.bcm.edu	37	chr16	89629371	89629371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgctagtctccgtatggcccGtgccaacgcccggctcttcg	11	17	2	0	rs139252401		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr16:89629371G>A	ENST00000393099.3	+	5	806	c.557G>A	c.(556-558)cGt>cAt	p.R186H	RPL13_ENST00000311528.5_Missense_Mutation_p.R186H|RPL13_ENST00000452368.3_Missense_Mutation_p.R139H|SNORD68_ENST00000363214.1_RNA|RPL13_ENST00000567815.1_Missense_Mutation_p.R186H	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	186					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGTATGGCCCGTGCCAACGCC	0.493																																					p.R186H		Atlas-SNP	.											.	RPL13	11	.	0			c.G557A						PASS	.	G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	33	37	35		557,557	3.6	0.9	16	dbSNP_134	35	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	RPL13	NM_000977.3,NM_033251.2	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	186/212,186/212	89629371	1,12989	2198	4297	6495	SO:0001583	missense	6137	exon6			TGGCCCGTGCCAA	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.557G>A	16.37:g.89629371G>A	ENSP00000376811:p.Arg186His	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	148	46	0.310811	NM_000977	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Missense_Mutation	SNP	ENST00000393099.3	37	CCDS10979.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791435	0.70452	0.0	1.16E-4	ENSG00000167526	ENST00000311528;ENST00000452368;ENST00000393099	T;T;T	0.56103	1.22;0.48;1.22	4.52	3.57	0.40892	.	0.000000	0.85682	U	0.000000	T	0.52484	0.1737	L	0.55834	1.745	0.80722	D	1	P;B	0.49559	0.925;0.362	P;B	0.46144	0.505;0.091	T	0.57236	-0.7846	10	0.62326	D	0.03	-12.1465	12.6145	0.56569	0.0813:0.0:0.9187:0.0	.	139;186	F5H1S2;P26373	.;RL13_HUMAN	H	186;139;186	ENSP00000307889:R186H;ENSP00000438959:R139H;ENSP00000376811:R186H	ENSP00000307889:R186H	R	+	2	0	RPL13	88156872	1.000000	0.71417	0.886000	0.34754	0.819000	0.46315	9.688000	0.98670	1.041000	0.40125	0.462000	0.41574	CGT	G|1.000;A|0.000	0.000	weak		0.493	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		A	89629371	G	A	89629371	3	1	18	1	0	0	0	0	1	0	0	0	13559	1145	40	1	575	1	RPL13	16	89629371	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	32066567	89629371	725382	177	4588										
C1QBP	708	hgsc.bcm.edu	37	chr17	5336352	5336352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctctactggctcttgacaaAactcttgaggtcttcaagaa	8	10	5	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:5336352A>C	ENST00000225698.4	-	6	913	c.832T>G	c.(832-834)Ttt>Gtt	p.F278V	C1QBP_ENST00000574444.1_Missense_Mutation_p.F174V|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	278					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTCTTGACAAAACTCTTGAGG	0.493																																					p.F278V		Atlas-SNP	.											.	C1QBP	12	.	0			c.T832G						PASS	.						78	76	77					17																	5336352		2203	4300	6503	SO:0001583	missense	708	exon6			TGACAAAACTCTT	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.832T>G	17.37:g.5336352A>C	ENSP00000225698:p.Phe278Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	93	24	0.258065	NM_001212	Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140421	0.77775	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88015	0.2765	9	0.87932	D	0	-7.3523	15.1895	0.73032	1.0:0.0:0.0:0.0	.	278	Q07021	C1QBP_HUMAN	V	278	.	ENSP00000225698:F278V	F	-	1	0	C1QBP	5277076	1.000000	0.71417	0.974000	0.42286	0.385000	0.30292	9.186000	0.94906	2.181000	0.69327	0.533000	0.62120	TTT	.	.	none		0.493	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		C	5336352	A	C	5336352	3	2	18	1	0	0	0	0	1	0	0	0	1956	14	1	5	20	5	C1QBP	17	5336352	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10		5336352	75858858	178	4589										
MYH8	4626	hgsc.bcm.edu	37	chr17	10304053	10304053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctccgctttggctcgggacGccctctctgcctcgatttct	9	16	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:10304053G>A	ENST00000403437.2	-	27	3483	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1130					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGCTCGGGACGCCCTCTCTGC	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A1130V		Atlas-SNP	.											.	MYH8	346	.	0			c.C3389T						PASS	.						45	51	49					17																	10304053		2203	4300	6503	SO:0001583	missense	4626	exon27	Familial Cancer Database	Carney Complex Variant	CGGGACGCCCTCT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3389C>T	17.37:g.10304053G>A	ENSP00000384330:p.Ala1130Val	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	106	14	0.132075	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867713	0.51588	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79554	-1.28	5.38	5.38	0.77491	Myosin tail (1);	0.171371	0.27595	U	0.018674	D	0.83834	0.5340	M	0.82132	2.575	0.53688	D	0.999977	B	0.22146	0.065	B	0.27170	0.077	T	0.81955	-0.0696	10	0.72032	D	0.01	.	19.3244	0.94256	0.0:0.0:1.0:0.0	.	1130	P13535	MYH8_HUMAN	V	1130	ENSP00000384330:A1130V	ENSP00000252173:A1130V	A	-	2	0	MYH8	10244778	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	9.499000	0.97975	2.794000	0.96219	0.655000	0.94253	GCG	.	.	none		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10304053	G	A	10304053	3	1	18	1	0	0	0	0	1	0	0	0	10041	1087	38	1	2480	1	MYH8	17	10304053	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	4967701	10304053	70891157	179	4590										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18907061	18907061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tccgccccgctggcttcctcGccgtcgccgaccccattgtc	9	21	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:18907061G>A	ENST00000388995.6	-	2	517	c.294C>T	c.(292-294)ggC>ggT	p.G98G	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.G98G|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.G98G|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	98					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGCTTCCTCGCCGTCGCCGA	0.716																																					p.G98G		Atlas-SNP	.											.	FAM83G	51	.	0			c.C294T						PASS	.						10	12	11					17																	18907061		1868	4050	5918	SO:0001819	synonymous_variant	644815	exon2			TTCCTCGCCGTCG	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.294C>T	17.37:g.18907061G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	76	17	0.223684	NM_001039999	Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	CCDS42276.1																																																																																			.	.	none		0.716	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18907061	G	A	18907061	2	1	18	1	0	0	0	0	0	0	0	1	5639	1074	38	1		1	FAM83G	17	18907061	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	8603008	18907061	62288149	180	4591										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gctgccgccccagctgctgtCagaccacctgttgcaggacc	11	17	1	1	rs200397258	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	31	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632													c|||	90	0.0179712	0.0416	0.013	5008	,	,		15484	0.0198		0.004	False		,,,				2504	0.002				p.Q31E		Atlas-SNP	.											KRTAP4-9_ENST00000377734,right_lower_lobe,carcinoma,0,2	KRTAP4-7	49	2	0			c.C91G						scavenged	.						16	23	21					17																	39240549		692	1591	2283	SO:0001583	missense	100132476	exon1			TGCTGTCAGACCA	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.91C>G	17.37:g.39240549C>G	ENSP00000375236:p.Gln31Glu	Somatic	53	2	0.0377358		WXS	Illumina HiSeq	Phase_I	52	4	0.0769231	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.541	-0.541861	0.04053	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00597	6.31	3.51	-5.02	0.02982	.	0.616411	0.13532	U	0.380865	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.39722	-0.9600	9	0.27785	T	0.31	.	7.7095	0.28669	0.3855:0.2289:0.3856:0.0	.	31	Q9BYR0	KRA47_HUMAN	E	31	ENSP00000375236:Q31E	ENSP00000375236:Q31E	Q	+	1	0	KRTAP4-9;KRTAP4-7	36494075	0.065000	0.20965	0.000000	0.03702	0.181000	0.23173	-0.407000	0.07178	-1.274000	0.02421	-0.505000	0.04504	CAG	.	.	weak		0.632	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240549	C	G	39240549	3	3	18	1	0	0	0	0	1	0	0	0	8555	827	29	4	93	4	KRTAP4-7	17	39240549	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	20333488	39240549	41954661	181	4592										
USP32	84669	hgsc.bcm.edu	37	chr17	58288802	58288802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agtggctgtgtgttactaacAcactggatgcttgagttcat	11	7	1	1	rs373498551		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:58288802A>G	ENST00000300896.4	-	20	2447	c.2253T>C	c.(2251-2253)tgT>tgC	p.C751C	USP32_ENST00000592339.1_Silent_p.C421C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	751	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C751C(3)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTTACTAACACACTGGATGC	0.433																																					p.C751C		Atlas-SNP	.											USP32,NS,carcinoma,0,3	USP32	128	3	3	Substitution - coding silent(3)	prostate(3)	c.T2253C						scavenged	.						129	118	122					17																	58288802		2202	4300	6502	SO:0001819	synonymous_variant	84669	exon20			ACTAACACACTGG	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2253T>C	17.37:g.58288802A>G		Somatic	260	2	0.00769231		WXS	Illumina HiSeq	Phase_I	282	4	0.0141844	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	CCDS32697.1																																																																																			.	.	weak		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		G	58288802	A	G	58288802	2	3	18	1	0	0	0	0	0	0	0	1	17060	157	6	2		2	USP32	17	58288802	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	19048253	58288802	22906408	182	4593										
CD79B	974	hgsc.bcm.edu	37	chr17	62006799	62006799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgcccctctccttacctcgtAggtgtgatcttcctccatgc	7	16	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:62006799A>G	ENST00000006750.3	-	5	678	c.586T>C	c.(586-588)Tac>Cac	p.Y196H	CD79B_ENST00000392795.3_Missense_Mutation_p.Y197H|CD79B_ENST00000349817.2_Missense_Mutation_p.Y92H	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	196	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y196H(2)|p.Y196N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CTTACCTCGTAGGTGTGATCT	0.632			"Mis, O"		DLBCL																																p.Y197H		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,lymphoid_neoplasm,0,13	CD79B	38	13	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.T589C						scavenged	.						94	74	81					17																	62006799		2203	4300	6503	SO:0001583	missense	974	exon5			CCTCGTAGGTGTG	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.586T>C	17.37:g.62006799A>G	ENSP00000006750:p.Tyr196His	Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	77	36	0.467532	NM_001039933	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482264	0.44147	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	D;D;D	0.96651	-4.08;-4.08;-4.08	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.95601	0.8570	N	0.24115	0.695	0.45172	D	0.998183	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.95387	0.8478	10	0.87932	D	0	-12.4743	9.5967	0.39578	1.0:0.0:0.0:0.0	.	92;196	P40259-2;P40259	.;CD79B_HUMAN	H	92;197;196	ENSP00000245862:Y92H;ENSP00000376544:Y197H;ENSP00000006750:Y196H	ENSP00000006750:Y196H	Y	-	1	0	CD79B	59360531	1.000000	0.71417	0.995000	0.50966	0.298000	0.27526	4.559000	0.60796	1.782000	0.52362	0.358000	0.22013	TAC	.	.	none		0.632	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			G	62006799	A	G	62006799	3	3	18	1	0	0	0	0	1	0	0	0	3037	420	15	3	111	3	CD79B	17	62006799	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	3717997	62006799	19188411	183	4594										
TTYH2	94015	hgsc.bcm.edu	37	chr17	72233625	72233625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tggagctgaccaagctatccGaccagactggctacgtggag	13	11	0	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:72233625G>A	ENST00000269346.4	+	4	681	c.607G>A	c.(607-609)Gac>Aac	p.D203N	TTYH2_ENST00000529107.1_Missense_Mutation_p.D182N	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	203						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAAGCTATCCGACCAGACTGG	0.577																																					p.D203N		Atlas-SNP	.											.	TTYH2	63	.	0			c.G607A						PASS	.						68	61	64					17																	72233625		2203	4300	6503	SO:0001583	missense	94015	exon4			CTATCCGACCAGA		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.607G>A	17.37:g.72233625G>A	ENSP00000269346:p.Asp203Asn	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	25	0.555556	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256174	0.22965	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.11063	2.81;2.81	5.52	-5.84	0.02318	.	0.886322	0.10208	N	0.702443	T	0.05868	0.0153	N	0.20610	0.595	0.09310	N	1	B;B	0.26975	0.165;0.011	B;B	0.22601	0.04;0.014	T	0.33929	-0.9849	10	0.41790	T	0.15	-7.3003	10.3533	0.43950	0.6543:0.1034:0.2424:0.0	.	182;203	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	N	203;182	ENSP00000269346:D203N;ENSP00000433089:D182N	ENSP00000269346:D203N	D	+	1	0	TTYH2	69745220	0.006000	0.16342	0.038000	0.18304	0.152000	0.21847	0.352000	0.20113	-0.870000	0.04047	-0.734000	0.03567	GAC	.	.	none		0.577	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			A	72233625	G	A	72233625	3	1	18	1	0	0	0	0	1	0	0	0	16737	1058	37	1	621	1	TTYH2	17	72233625	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	10226826	72233625	8961585	184	4595										
NT5C	30833	hgsc.bcm.edu	37	chr17	73127683	73127683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cgggccaggaagccgcggcgTtgctccagcggcacgtgcgg	18	14	0	0	rs4788867	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:73127683T>C	ENST00000245552.2	-	1	207	c.120A>G	c.(118-120)caA>caG	p.Q40Q	NT5C_ENST00000582160.1_5'Flank|NT5C_ENST00000582170.1_Silent_p.Q40Q|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	40					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	AGCCGCGGCGTTGCTCCAGCG	0.766													C|||	2491	0.497404	0.4372	0.5115	5008	,	,		10373	0.2817		0.66	False		,,,				2504	0.6237				p.Q40Q		Atlas-SNP	.											.	NT5C	3	.	0			c.A120G						PASS	.						1	1	1					17																	73127683		1084	2247	3331	SO:0001819	synonymous_variant	30833	exon1			GCGGCGTTGCTCC	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.120A>G	17.37:g.73127683T>C		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	8	7	0.875	NM_001252377	Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	37	CCDS11715.1																																																																																			T|0.501;C|0.499	0.499	strong		0.766	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			C	73127683	T	C	73127683	2	2	18	1	0	0	0	0	0	0	0	1	10684	1722	60	2		2	NT5C	17	73127683	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	894058	73127683	8067527	185	4596										
RHBDF2	79651	hgsc.bcm.edu	37	chr17	74471179	74471179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acgtgcaaatcaccagcagcGtgatgatgacatggacgaag	12	9	1	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:74471179G>A	ENST00000313080.4	-	10	1520	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	RHBDF2_ENST00000389760.4_Missense_Mutation_p.T387M|RHBDF2_ENST00000591885.1_Missense_Mutation_p.T387M	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	416					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.T416M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CACCAGCAGCGTGATGATGAC	0.622																																					p.T416M		Atlas-SNP	.											RHBDF2,colon,carcinoma,0,1	RHBDF2	57	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1247T						PASS	.						93	66	75					17																	74471179		2202	4299	6501	SO:0001583	missense	79651	exon10			AGCAGCGTGATGA	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1247C>T	17.37:g.74471179G>A	ENSP00000322775:p.Thr416Met	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	69	8	0.115942	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676691	0.47886	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.11604	2.76;2.76	5.1	3.11	0.35812	.	0.051498	0.85682	D	0.000000	T	0.08358	0.0208	N	0.26092	0.79	0.58432	D	0.999997	D;D;P;P	0.55800	0.967;0.973;0.908;0.723	B;B;B;B	0.43052	0.268;0.406;0.223;0.131	T	0.31024	-0.9958	10	0.33940	T	0.23	-6.9882	10.8119	0.46551	0.1535:0.0:0.8465:0.0	.	387;362;416;387	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	M	416;387;362	ENSP00000322775:T416M;ENSP00000374410:T387M	ENSP00000322775:T416M	T	-	2	0	RHBDF2	71982774	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.708000	0.61859	1.157000	0.42530	0.462000	0.41574	ACG	.	.	none		0.622	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		A	74471179	G	A	74471179	3	1	18	1	0	0	0	0	1	0	0	0	13320	1145	40	1	1363	1	RHBDF2	17	74471179	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1343496	74471179	6724031	186	4597										
ACTG1	71	hgsc.bcm.edu	37	chr17	79478964	79478964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tctgttggccttggggttcaGgggggcctcggtcagcagca	17	10	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr17:79478964G>C	ENST00000575842.1	-	2	754	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.L110V|ACTG1_ENST00000575087.1_Missense_Mutation_p.L110V|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.L110V			P63261	ACTG_HUMAN	actin, gamma 1	110					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGGGGTTCAGGGGGGCCTCG	0.627																																					p.L110V		Atlas-SNP	.											.	ACTG1	55	.	0			c.C328G						PASS	.						43	54	50					17																	79478964		2203	4298	6501	SO:0001583	missense	71	exon3			GGTTCAGGGGGGC		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.328C>G	17.37:g.79478964G>C	ENSP00000458162:p.Leu110Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	154	7	0.0454545	NM_001614	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978682	0.18812	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94793	-3.52	4.51	0.962	0.19643	Actin/actin-like conserved site (1);	0.000000	0.53938	D	0.000044	D	0.97851	0.9294	H	0.97611	4.04	0.35790	D	0.822304	P	0.39748	0.686	D	0.68353	0.957	D	0.97599	1.0122	10	0.87932	D	0	.	6.7442	0.23453	0.4546:0.0:0.5454:0.0	.	110	P63261	ACTG_HUMAN	V	110	ENSP00000331514:L110V	ENSP00000331514:L110V	L	-	1	2	ACTG1	77093559	1.000000	0.71417	0.952000	0.39060	0.162000	0.22319	2.494000	0.45329	0.371000	0.24564	-0.217000	0.12591	CTG	.	.	none		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		C	79478964	G	C	79478964	3	2	18	1	0	0	0	0	1	0	0	0	196	991	35	4	815	4	ACTG1	17	79478964	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	5007785	79478964	1716246	187	4598										
DSG3	1830	hgsc.bcm.edu	37	chr18	29052745	29052745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atggagccgatttcatggaaAgttctggtaagtggacataa	12	5	2	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr18:29052745A>G	ENST00000257189.4	+	14	2178	c.2095A>G	c.(2095-2097)Agt>Ggt	p.S699G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	699					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCATGGAAAGTTCTGGTAA	0.323																																					p.S699G		Atlas-SNP	.											.	DSG3	172	.	0			c.A2095G						PASS	.						82	80	81					18																	29052745		2203	4300	6503	SO:0001583	missense	1830	exon14			ATGGAAAGTTCTG	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2095A>G	18.37:g.29052745A>G	ENSP00000257189:p.Ser699Gly	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	186	40	0.215054	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433730	0.43224	.	.	ENSG00000134757	ENST00000257189	T	0.46451	0.87	6.08	6.08	0.98989	.	0.216111	0.31784	N	0.007067	T	0.36303	0.0962	L	0.46157	1.445	0.29335	N	0.866406	B	0.21606	0.058	B	0.15052	0.012	T	0.35001	-0.9806	10	0.52906	T	0.07	.	10.6629	0.45712	0.8399:0.1601:0.0:0.0	.	699	P32926	DSG3_HUMAN	G	699	ENSP00000257189:S699G	ENSP00000257189:S699G	S	+	1	0	DSG3	27306743	0.925000	0.31364	1.000000	0.80357	0.988000	0.76386	2.357000	0.44125	2.333000	0.79357	0.482000	0.46254	AGT	.	.	none		0.323	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		G	29052745	A	G	29052745	3	3	18	1	0	0	0	0	1	0	0	0	4778	72	3	3	2149	3	DSG3	18	29052745	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10		29052745	49024503	188	4599										
CDH7	1005	hgsc.bcm.edu	37	chr18	63529970	63529970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aacaatcagtttactatctgCcaattttcattgtggacagt	6	8	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr18:63529970C>A	ENST00000397968.2	+	11	2107	c.1681C>A	c.(1681-1683)Cca>Aca	p.P561T	CDH7_ENST00000323011.3_Missense_Mutation_p.P561T|RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000536984.2_Missense_Mutation_p.P561T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	561	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACTATCTGCCAATTTTCAT	0.498																																					p.P561T		Atlas-SNP	.											.	CDH7	362	.	0			c.C1681A						PASS	.						145	117	127					18																	63529970		2203	4300	6503	SO:0001583	missense	1005	exon11			TATCTGCCAATTT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1681C>A	18.37:g.63529970C>A	ENSP00000381058:p.Pro561Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	167	30	0.179641	NM_004361	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129597	0.77549	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.42900	0.96;0.96;0.96	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62732	-0.6792	10	0.87932	D	0	.	19.0909	0.93227	0.0:1.0:0.0:0.0	.	561;561	F5H5X9;Q9ULB5	.;CADH7_HUMAN	T	561	ENSP00000319166:P561T;ENSP00000443030:P561T;ENSP00000381058:P561T	ENSP00000319166:P561T	P	+	1	0	CDH7	61680950	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	7.792000	0.85828	2.528000	0.85240	0.591000	0.81541	CCA	.	.	none		0.498	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63529970	C	A	63529970	3	1	18	1	0	0	0	0	1	0	0	0	3115	739	26	4	1719	4	CDH7	18	63529970	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	34477225	63529970	14547278	189	4600										
CD209	30835	hgsc.bcm.edu	37	chr19	7810925	7810925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gggtcaggttctggtagatcGcgtcttgcctggattgttcc	14	9	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:7810925G>A	ENST00000315599.7	-	4	249	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CD209_ENST00000354397.6_Missense_Mutation_p.A76V|CD209_ENST00000593660.1_Missense_Mutation_p.A52V|CD209_ENST00000301357.8_Missense_Mutation_p.A32V|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.A52V|CD209_ENST00000602261.1_Missense_Mutation_p.A76V|CD209_ENST00000601256.1_Missense_Mutation_p.A52V|CD209_ENST00000204801.8_Missense_Mutation_p.A32V|CD209_ENST00000394173.4_Missense_Mutation_p.A76V|CD209_ENST00000315591.8_Missense_Mutation_p.A52V|CD209_ENST00000593821.1_Missense_Mutation_p.A32V	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	76					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTAGATCGCGTCTTGCCT	0.507																																					p.A76V		Atlas-SNP	.											CD209_ENST00000315599,caecum,carcinoma,+1,2	CD209	166	2	0			c.C227T						scavenged	.						174	172	173					19																	7810925		2203	4300	6503	SO:0001583	missense	30835	exon4			TAGATCGCGTCTT	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.227C>T	19.37:g.7810925G>A	ENSP00000315477:p.Ala76Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	156	6	0.0384615	NM_021155	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	g	0.297	-0.976144	0.02215	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T;T	0.16897	4.08;4.46;4.11;4.1;2.31;4.12	0.734	-1.47	0.08772	.	.	.	.	.	T	0.18087	0.0434	N	0.22421	0.69	0.80722	D	1	B;B;B;D;B;B;B;B;B;B;B	0.63046	0.007;0.021;0.014;0.992;0.301;0.027;0.006;0.007;0.011;0.086;0.026	B;B;B;D;B;B;B;B;B;B;B	0.66716	0.002;0.013;0.008;0.946;0.146;0.008;0.008;0.002;0.008;0.011;0.009	T	0.32455	-0.9906	8	0.30078	T	0.28	.	.	.	.	.	76;76;52;32;32;52;76;76;52;52;76	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	V	76;76;52;32;76;32;60	ENSP00000315477:A76V;ENSP00000346373:A76V;ENSP00000315407:A52V;ENSP00000204801:A32V;ENSP00000377728:A76V;ENSP00000301357:A32V	ENSP00000204801:A32V	A	-	2	0	CD209	7716925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.828000	0.04419	-1.812000	0.01227	-1.986000	0.00452	GCG	.	.	none		0.507	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		A	7810925	G	A	7810925	3	1	18	1	0	0	0	0	1	0	0	0	2984	1087	38	1	1003	1	CD209	19	7810925	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		7810925	51318058	190	4601										
MUC16	94025	hgsc.bcm.edu	37	chr19	9018508	9018508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	atgcatgtcctcctcatactTcaggttggtgatggtgaagt	11	8	2	2	rs74488264		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:9018508T>G	ENST00000397910.4	-	24	37869	c.37666A>C	c.(37666-37668)Aag>Cag	p.K12556Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12558	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCATACTTCAGGTTGGTG	0.512																																					p.K12556Q		Atlas-SNP	.											MUC16_ENST00000397910,colon,carcinoma,+2,2	MUC16	4315	2	0			c.A37666C						scavenged	.						234	198	209					19																	9018508		1978	4180	6158	SO:0001583	missense	94025	exon24			CATACTTCAGGTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37666A>C	19.37:g.9018508T>G	ENSP00000381008:p.Lys12556Gln	Somatic	97	1	0.0103093		WXS	Illumina HiSeq	Phase_I	97	7	0.0721649	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.033	0.762173	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.01	-4.02	0.04034	.	.	.	.	.	T	0.05547	0.0146	N	0.00138	-2.015	.	.	.	B	0.20052	0.041	B	0.09377	0.004	T	0.32534	-0.9903	8	0.87932	D	0	.	2.4995	0.04630	0.3117:0.0:0.2615:0.4268	.	12556	B5ME49	.	Q	12556	ENSP00000381008:K12556Q	ENSP00000381008:K12556Q	K	-	1	0	MUC16	8879508	0.000000	0.05858	0.008000	0.14137	0.336000	0.28762	-1.612000	0.02061	-0.971000	0.03564	0.164000	0.16699	AAG	T|0.500;G|0.500	0.500	weak		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9018508	T	G	9018508	3	3	18	1	0	0	0	0	1	0	0	0	9973	1792	62	5	6101	5	MUC16	19	9018508	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	1207583	9018508	50110475	191	4602										
RAB3D	9545	hgsc.bcm.edu	37	chr19	11446354	11446354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cactcaccagtcctgcacagCggcaaaggattcctgattgg	10	13	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:11446354C>T	ENST00000222120.3	-	3	594	c.334G>A	c.(334-336)Gct>Act	p.A112T	RAB3D_ENST00000589655.1_Missense_Mutation_p.A112T	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	112					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCTGCACAGCGGCAAAGGAT	0.602																																					p.A112T		Atlas-SNP	.											RAB3D,NS,carcinoma,+1,1	RAB3D	24	1	0			c.G334A						PASS	.						137	127	130					19																	11446354		2203	4300	6503	SO:0001583	missense	9545	exon3			GCACAGCGGCAAA	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.334G>A	19.37:g.11446354C>T	ENSP00000222120:p.Ala112Thr	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	71	15	0.211268	NM_004283		Missense_Mutation	SNP	ENST00000222120.3	37	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485743	0.84854	.	.	ENSG00000105514	ENST00000222120	T	0.76839	-1.05	4.64	4.64	0.57946	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	N	0.21194	0.64	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.83509	0.0079	10	0.72032	D	0.01	.	16.7878	0.85578	0.0:1.0:0.0:0.0	.	112	O95716	RAB3D_HUMAN	T	112	ENSP00000222120:A112T	ENSP00000222120:A112T	A	-	1	0	RAB3D	11307354	1.000000	0.71417	0.635000	0.29338	0.771000	0.43674	7.499000	0.81566	2.584000	0.87258	0.462000	0.41574	GCT	.	.	none		0.602	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		T	11446354	C	T	11446354	3	4	18	1	0	0	0	0	1	0	0	0	12934	768	27	1	337	1	RAB3D	19	11446354	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	2427846	11446354	47682629	192	4603										
RGL3	57139	hgsc.bcm.edu	37	chr19	11508197	11508197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gggcctccgagctctgctgcGccgggagggggattcgaggg	20	11	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:11508197G>A	ENST00000380456.3	-	17	1886	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.A614V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	608					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCTCTGCTGCGCCGGGAGGGG	0.677																																					p.A614V	GBM(174;751 2067 17998 27979 33959)	Atlas-SNP	.											RGL3_ENST00000380456,NS,carcinoma,0,2	RGL3	100	2	0			c.C1841T						PASS	.						17	19	19					19																	11508197		2199	4287	6486	SO:0001583	missense	57139	exon17			TGCTGCGCCGGGA	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1823C>T	19.37:g.11508197G>A	ENSP00000369823:p.Ala608Val	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	71	25	0.352113	NM_001161616	B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882799	0.17467	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.44083	0.93;0.93	4.48	1.04	0.20106	.	0.474496	0.23534	N	0.047147	T	0.17874	0.0429	N	0.14661	0.345	0.09310	N	0.999998	B;B;B;P	0.52692	0.037;0.037;0.021;0.955	B;B;B;B	0.35655	0.007;0.007;0.004;0.207	T	0.19484	-1.0304	10	0.59425	D	0.04	.	4.9404	0.13963	0.0:0.4382:0.3657:0.1961	.	608;614;614;405	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	V	405;614;608	ENSP00000377075:A614V;ENSP00000369823:A608V	ENSP00000344665:A405V	A	-	2	0	RGL3	11369197	0.572000	0.26668	0.198000	0.23420	0.011000	0.07611	1.182000	0.32029	0.214000	0.20742	-0.321000	0.08615	GCG	.	.	none		0.677	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		A	11508197	G	A	11508197	3	1	18	1	0	0	0	0	1	0	0	0	13278	1087	38	1	321	1	RGL3	19	11508197	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	61843	11508197	47620786	193	4604										
MAST1	22983	hgsc.bcm.edu	37	chr19	12980018	12980018	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccgctcccccatcaccatccAgcgctcgggcaagaagtatg	9	17	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:12980018A>T	ENST00000251472.4	+	22	2951	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ATCACCATCCAGCGCTCGGGC	0.582																																					p.Q971L		Atlas-SNP	.											.	MAST1	214	.	0			c.A2912T						PASS	.						89	76	81					19																	12980018		2203	4300	6503	SO:0001583	missense	22983	exon22			CCATCCAGCGCTC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2912A>T	19.37:g.12980018A>T	ENSP00000251472:p.Gln971Leu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	117	30	0.25641	NM_014975		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447174	0.63178	.	.	ENSG00000105613	ENST00000251472	T	0.39997	1.05	5.01	5.01	0.66863	PDZ/DHR/GLGF (2);	0.066047	0.64402	D	0.000008	T	0.31358	0.0794	N	0.24115	0.695	0.58432	D	0.999999	B	0.09022	0.002	B	0.18561	0.022	T	0.12116	-1.0560	10	0.72032	D	0.01	-15.0771	12.6691	0.56857	1.0:0.0:0.0:0.0	.	971	Q9Y2H9	MAST1_HUMAN	L	971	ENSP00000251472:Q971L	ENSP00000251472:Q971L	Q	+	2	0	MAST1	12841018	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.242000	0.72376	1.886000	0.54624	0.379000	0.24179	CAG	.	.	none		0.582	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		T	12980018	A	T	12980018	3	4	18	1	0	0	0	0	1	0	0	0	9324	188	7	5	2998	5	MAST1	19	12980018	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1471821	12980018	46148965	194	4605										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22157027	22157027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttatgtttagtaaggattGcagattggttaaaagccttg	10	4	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:22157027G>T	ENST00000397126.4	-	4	957	c.809C>A	c.(808-810)gCa>gAa	p.A270E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTAAGGATTGCAGATTGGTT	0.363																																					p.A270E		Atlas-SNP	.											.	ZNF208	817	.	0			c.C809A						PASS	.						33	36	35					19																	22157027		2135	4259	6394	SO:0001583	missense	7757	exon4			AGGATTGCAGATT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.809C>A	19.37:g.22157027G>T	ENSP00000380315:p.Ala270Glu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	97	5	0.0515464	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329450	0.24167	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.15372	2.43	2.89	0.112	0.14623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	.	.	.	0.09310	N	1	B	0.31125	0.309	B	0.20577	0.03	T	0.18241	-1.0343	8	0.66056	D	0.02	.	10.6065	0.45398	0.0:0.3727:0.6273:0.0	.	270	O43345	ZN208_HUMAN	E	270	ENSP00000380315:A270E	ENSP00000380315:A270E	A	-	2	0	ZNF208	21948867	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.059000	0.14322	0.166000	0.19597	0.306000	0.20318	GCA	.	.	none		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22157027	G	T	22157027	3	4	18	1	0	0	0	0	1	0	0	0	17763	1319	46	4	3037	4	ZNF208	19	22157027	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	9177009	22157027	36971956	195	4606										
HKR1	284459	hgsc.bcm.edu	37	chr19	37853921	37853921	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agacacaagaggacacattcAggagagaagccttacatttg	10	8	1	3			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:37853921A>T	ENST00000324411.4	+	6	1493	c.1224A>T	c.(1222-1224)tcA>tcT	p.S408S	HKR1_ENST00000589392.1_Silent_p.S390S|HKR1_ENST00000544914.1_Silent_p.S135S|HKR1_ENST00000541583.2_Silent_p.S347S|HKR1_ENST00000392153.3_Silent_p.S389S|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.S135S	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	408					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGACACATTCAGGAGAGAAGC	0.522																																					p.S408S		Atlas-SNP	.											.	HKR1	74	.	0			c.A1224T						PASS	.						99	102	101					19																	37853921		2203	4300	6503	SO:0001819	synonymous_variant	284459	exon6			ACATTCAGGAGAG	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1224A>T	19.37:g.37853921A>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	53	16	0.301887	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	CCDS12502.1																																																																																			.	.	none		0.522	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		T	37853921	A	T	37853921	2	4	18	1	0	0	0	0	0	0	0	1	7194	175	7	5		5	HKR1	19	37853921	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	15696894	37853921	21275062	196	4607										
HAS1	3036	hgsc.bcm.edu	37	chr19	52222861	52222861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcctcctggtaggcggagatGgtcagcgccacactgcgcgc	14	14	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:52222861G>A	ENST00000222115.1	-	2	334	c.300C>T	c.(298-300)acC>acT	p.T100T	HAS1_ENST00000594621.1_5'Flank|HAS1_ENST00000540069.2_Silent_p.T99T|HAS1_ENST00000601714.1_Silent_p.T107T	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	100					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGCGGAGATGGTCAGCGCCA	0.761																																					p.T100T	NSCLC(132;636 2450 45807 47979)	Atlas-SNP	.											.	HAS1	61	.	0			c.C300T						PASS	.						4	5	5					19																	52222861		1881	3592	5473	SO:0001819	synonymous_variant	3036	exon2			GGAGATGGTCAGC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.300C>T	19.37:g.52222861G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	70	27	0.385714	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																			.	.	none		0.761	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52222861	G	A	52222861	2	1	18	1	0	0	0	0	0	0	0	1	6961	1335	47	2		2	HAS1	19	52222861	Silent	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	14368940	52222861	6906122	197	4608										
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		Atlas-SNP	.											.	PPP1R12C	46	.	0			c.T303C						PASS	.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_017607		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192	0.192	strong		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	18	1	0	0	0	0	0	0	0	1	12356	378	14	2		2	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	3405748	55628609	3500374	198	4609										
ZNF8	7554	hgsc.bcm.edu	37	chr19	58805974	58805974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgactgtgggaagtcgtttaAccataacgcacacctcaccg	9	12	1	1	rs202096304		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr19:58805974A>G	ENST00000196548.5	+	4	931	c.800A>G	c.(799-801)aAc>aGc	p.N267S	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.N267S			P17098	ZNF8_HUMAN	zinc finger protein 8	267					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N267S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCGTTTAACCATAACGCA	0.488																																					p.N267S		Atlas-SNP	.											ZNF8,NS,carcinoma,0,1	ZNF8	60	1	1	Substitution - Missense(1)	lung(1)	c.A800G						scavenged	.	A	SER/ASN	0,4406		0,0,2203	89	83	85		800	4.3	1	19		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF8	NM_021089.2	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	267/576	58805974	1,13005	2203	4300	6503	SO:0001583	missense	7554	exon4			CGTTTAACCATAA	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.800A>G	19.37:g.58805974A>G	ENSP00000196548:p.Asn267Ser	Somatic	42	1	0.0238095		WXS	Illumina HiSeq	Phase_I	64	2	0.03125	NM_021089	Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	A	7.641	0.680842	0.14907	0.0	1.16E-4	ENSG00000083842	ENST00000196548	T	0.07216	3.21	4.26	4.26	0.50523	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000053	T	0.04272	0.0118	N	0.01197	-0.965	0.29136	N	0.879298	D	0.57257	0.979	P	0.54664	0.758	T	0.26608	-1.0098	10	0.02654	T	1	-29.5913	10.101	0.42504	1.0:0.0:0.0:0.0	.	267	P17098	ZNF8_HUMAN	S	267	ENSP00000196548:N267S	ENSP00000196548:N267S	N	+	2	0	ZNF8	63497786	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	-1.135000	0.03225	2.157000	0.67596	0.524000	0.50904	AAC	A|0.999;G|0.001	0.001	weak		0.488	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		G	58805974	A	G	58805974	3	3	18	1	0	0	0	0	1	0	0	0	18164	43	2	2	814	2	ZNF8	19	58805974	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	3177365	58805974	323009	199	4610										
CSNK2A1	1457	hgsc.bcm.edu	37	chr20	470463	470463	+	Frame_Shift_Del	DEL	C	C	-													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccatggaaaaatggctccttCcgaaagatcatacttgccag							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:470463delC	ENST00000217244.3	-	10	1059	c.684delG	c.(682-684)cggfs	p.R228fs	CSNK2A1_ENST00000400217.2_Frame_Shift_Del_p.R92fs|CSNK2A1_ENST00000400227.3_Frame_Shift_Del_p.R228fs|CSNK2A1_ENST00000349736.5_Frame_Shift_Del_p.R228fs	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATGGCTCCTTCCGAAAGATCA	0.373																																					p.K229fs		Pindel,Atlas-Indel	.											.	CSNK2A1	36	.	0			c.685delA						PASS	.						103	92	96					20																	470463		2203	4300	6503	SO:0001589	frameshift_variant	1457	exon9			.	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.684delG	20.37:g.470463delC	ENSP00000217244:p.Arg228fs	Somatic	79	.	.		WXS	Illumina HiSeq	Phase_I	91	18	0.198	NM_001895	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Frame_Shift_Del	DEL	ENST00000217244.3	37	CCDS13003.1																																																																																			.	.	none		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		-	470463	C	-	470463	7	5	18	1	0	1	0	1	0	0	0	0	3957	842	30	0	511	0	CSNK2A1	20	470463	Frame_Shift_Del	DEL	C	TCGA-FF-A7CR-01A-11D-A382-10		470463	62555057	200	4611										
PCSK2	5126	hgsc.bcm.edu	37	chr20	17240884	17240884	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgtctacttgactctccacaGcttccctttgctgaaggtct	7	13	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:17240884G>T	ENST00000262545.2	+	2	492		c.e2-1		PCSK2_ENST00000377899.1_Splice_Site|PCSK2_ENST00000536609.1_Intron	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTCTCCACAGCTTCCCTTTG	0.552																																					.		Atlas-SNP	.											.	PCSK2	112	.	0			c.121-1G>T						PASS	.						145	128	134					20																	17240884		2203	4300	6503	SO:0001630	splice_region_variant	5126	exon3			TCCACAGCTTCCC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.178-1G>T	20.37:g.17240884G>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_001201528	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282721	0.40394	.	.	ENSG00000125851	ENST00000377899;ENST00000262545	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5997	0.68432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCSK2	17188884	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	6.453000	0.73488	2.513000	0.84729	0.655000	0.94253	.	.	.	none		0.552	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Intron	T	17240884	G	T	17240884	5	4	18	1	0	0	0	0	0	0	1	0	11601	985	34	4	183	4	PCSK2	20	17240884	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	16770421	17240884	45784636	201	4612										
C20orf118	140711	hgsc.bcm.edu	37	chr20	35517718	35517718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaagctccccttgcccgaccTtcaacaacgaggtgctggcc	10	16	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:35517718T>C	ENST00000217320.3	+	6	621	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TLDC2_ENST00000602922.1_Missense_Mutation_p.F193L	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	193	TLD.																TTGCCCGACCTTCAACAACGA	0.617																																					p.F193L		Atlas-SNP	.											C20orf118,NS,carcinoma,-2,1	C20orf118	21	1	0			c.T577C						PASS	.						77	68	71					20																	35517718		2203	4300	6503	SO:0001583	missense	140711	exon6			CCGACCTTCAACA	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.577T>C	20.37:g.35517718T>C	ENSP00000217320:p.Phe193Leu	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	119	5	0.0420168	NM_080628	B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149620	0.78001	.	.	ENSG00000101342	ENST00000217320	T	0.57595	0.39	5.41	5.41	0.78517	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	H	0.95504	3.68	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	D	0.86032	0.1514	10	0.87932	D	0	-19.3697	13.6557	0.62338	0.0:0.0:0.0:1.0	.	193	A0PJX2	CT118_HUMAN	L	193	ENSP00000217320:F193L	ENSP00000217320:F193L	F	+	1	0	C20orf118	34951132	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	6.242000	0.72376	2.044000	0.60594	0.533000	0.62120	TTC	.	.	none		0.617	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		C	35517718	T	C	35517718	3	2	18	1	0	0	0	0	1	0	0	0	2084	1609	56	3	599	3	C20orf118	20	35517718	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	18276834	35517718	27507802	202	4613										
RBM38	55544	hgsc.bcm.edu	37	chr20	55967801	55967801	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggccaacgtgaacctggcatAtctgggcgccaagccgcgga	14	13	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:55967801A>C	ENST00000356208.5	+	2	504	c.329A>C	c.(328-330)tAt>tCt	p.Y110S	RBM38_ENST00000440234.2_Missense_Mutation_p.Y110S|RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_Missense_Mutation_p.Y29S	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	110	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			AACCTGGCATATCTGGGCGCC	0.617																																					p.Y110S		Atlas-SNP	.											.	RBM38	19	.	0			c.A329C						PASS	.						48	58	55					20																	55967801		1976	4180	6156	SO:0001583	missense	55544	exon2			TGGCATATCTGGG	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"RNA binding motif (RRM) containing"	15818	protein-coding gene	gene with protein product		612428	"RNA-binding region (RNP1, RRM) containing 1"	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.329A>C	20.37:g.55967801A>C	ENSP00000348538:p.Tyr110Ser	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	125	35	0.28	NM_183425	A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881598	0.72294	.	.	ENSG00000132819	ENST00000356208;ENST00000440234;ENST00000371219	T;T;T	0.73789	-0.78;-0.78;2.07	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	N	0.02247	-0.625	0.80722	D	1	B	0.13145	0.007	B	0.20184	0.028	T	0.48864	-0.8997	10	0.21014	T	0.42	3.4076	14.5578	0.68113	1.0:0.0:0.0:0.0	.	110	Q9H0Z9	RBM38_HUMAN	S	110;110;29	ENSP00000348538:Y110S;ENSP00000407848:Y110S;ENSP00000360263:Y29S	ENSP00000345248:Y87S	Y	+	2	0	RBM38	55401207	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	8.638000	0.91019	1.915000	0.55452	0.533000	0.62120	TAT	.	.	none		0.617	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		C	55967801	A	C	55967801	3	2	18	1	0	0	0	0	1	0	0	0	13132	449	16	5	94	5	RBM38	20	55967801	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	20450083	55967801	7057719	203	4614										
CDH26	60437	hgsc.bcm.edu	37	chr20	58569512	58569512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggacaatacctggggaaatgCggaggacacatggaagttgg	16	6	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:58569512C>T	ENST00000244047.5	+	11	1945	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.A545V|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	545					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGGGAAATGCGGAGGACACA	0.483																																					p.A545V		Atlas-SNP	.											CDH26_ENST00000244047,caecum,carcinoma,-1,2	CDH26	229	2	0			c.C1634T						PASS	.						47	45	45					20																	58569512		2203	4300	6503	SO:0001583	missense	60437	exon11			GAAATGCGGAGGA	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1634C>T	20.37:g.58569512C>T	ENSP00000244047:p.Ala545Val	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.035|8.035	0.762688|0.762688	0.15914|0.15914	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.60797|.	0.16;0.16|.	4.14|4.14	-2.75|-2.75	0.05914|0.05914	Cadherin-like (1);|.	1.199730|.	0.06092|.	N|.	0.663775|.	T|T	0.12817|0.12817	0.0311|0.0311	N|N	0.05199|0.05199	-0.095|-0.095	0.09310|0.09310	N|N	1|1	B;B|.	0.20368|.	0.044;0.019|.	B;B|.	0.16289|.	0.015;0.01|.	T|T	0.25328|0.25328	-1.0135|-1.0135	10|5	0.05525|.	T|.	0.97|.	.|.	3.2617|3.2617	0.06851|0.06851	0.2957:0.3011:0.0:0.4032|0.2957:0.3011:0.0:0.4032	.|.	545;545|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	V|W	545|137	ENSP00000244047:A545V;ENSP00000339390:A545V|.	ENSP00000244047:A545V|.	A|R	+|+	2|1	0|2	CDH26|CDH26	58002907|58002907	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.140000|-1.140000	0.03210|0.03210	-0.411000|-0.411000	0.07530|0.07530	0.655000|0.655000	0.94253|0.94253	GCG|CGG	.	.	none		0.483	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58569512	C	T	58569512	3	4	18	1	0	0	0	0	1	0	0	0	3110	768	27	1	1676	1	CDH26	20	58569512	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	2601711	58569512	4456008	204	4615										
UCKL1	54963	hgsc.bcm.edu	37	chr20	62576008	62576008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	caccctcgatgtcccggccgCgctcactgatgtcccggcgc	11	19	1	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr20:62576008C>T	ENST00000354216.6	-	6	776	c.734G>A	c.(733-735)cGc>cAc	p.R245H	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_Missense_Mutation_p.R245H|UCKL1_ENST00000369892.3_Missense_Mutation_p.R245H|UCKL1_ENST00000369908.5_Missense_Mutation_p.R230H|UCKL1_ENST00000492660.1_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	245					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCCCGGCCGCGCTCACTGAT	0.607																																					p.R245H		Atlas-SNP	.											.	UCKL1	28	.	0			c.G734A						PASS	.						133	83	100					20																	62576008		2198	4298	6496	SO:0001583	missense	54963	exon6			CGGCCGCGCTCAC	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.734G>A	20.37:g.62576008C>T	ENSP00000346155:p.Arg245His	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	132	38	0.287879	NM_017859	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253488	0.95336	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.84	4.9	0.64082	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	D	0.91399	0.7286	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.95029	0.8167	9	0.87932	D	0	-20.8731	14.9695	0.71223	0.0:0.9316:0.0:0.0684	.	230;245	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	H	245;245;245;230	.	ENSP00000346155:R245H	R	-	2	0	UCKL1	62046452	1.000000	0.71417	0.322000	0.25334	0.878000	0.50629	5.657000	0.67996	1.489000	0.48450	0.561000	0.74099	CGC	.	.	none		0.607	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		T	62576008	C	T	62576008	3	4	18	1	0	0	0	0	1	0	0	0	16922	768	27	1	952	1	UCKL1	20	62576008	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	4006496	62576008	449512	205	4616										
ERG	2078	hgsc.bcm.edu	37	chr21	39775625	39775625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	catggtctgtactccatagcGtaggatctgaaaggggtggg	15	7	2	1	rs140222241		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr21:39775625G>A	ENST00000417133.2	-	6	601	c.416C>T	c.(415-417)aCg>aTg	p.T139M	ERG_ENST00000398907.1_Missense_Mutation_p.T132M|ERG_ENST00000398910.1_Missense_Mutation_p.T139M|ERG_ENST00000442448.1_Missense_Mutation_p.T139M|ERG_ENST00000398905.1_Missense_Mutation_p.T132M|ERG_ENST00000398911.1_Missense_Mutation_p.T139M|ERG_ENST00000429727.2_Intron|ERG_ENST00000453032.2_Missense_Mutation_p.T40M|ERG_ENST00000398897.1_Missense_Mutation_p.T40M|ERG_ENST00000398919.2_Missense_Mutation_p.T139M|ERG_ENST00000288319.7_Missense_Mutation_p.T132M	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACTCCATAGCGTAGGATCTGA	0.517			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																p.T139M	Esophageal Squamous(130;336 1700 3010 3083 40589)	Atlas-SNP	.		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	.	ERG	78	.	0			c.C416T						PASS	.	G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	75	66	69		416,119,416,395	3.7	0.1	21	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	139/487,40/388,139/463,132/480	39775625	1,13005	2203	4300	6503	SO:0001583	missense	2078	exon6			CATAGCGTAGGAT		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.416C>T	21.37:g.39775625G>A	ENSP00000414150:p.Thr139Met	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	97	27	0.278351	NM_001243432	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740833	0.49151	0.0	1.16E-4	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.55	3.66	0.41972	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.111389	0.64402	D	0.000011	T	0.37376	0.1001	N	0.24115	0.695	0.53688	D	0.999971	P;D;P;P;B	0.76494	0.776;0.999;0.741;0.547;0.338	P;D;B;B;B	0.66196	0.505;0.942;0.207;0.084;0.07	T	0.10894	-1.0610	10	0.39692	T	0.17	.	13.0918	0.59171	0.0784:0.0:0.9216:0.0	.	139;132;139;139;132	P11308;B5MDW0;P11308-6;P11308-1;P11308-4	ERG_HUMAN;.;.;.;.	M	132;132;132;40;139;139;139;139;40;139	ENSP00000381877:T132M;ENSP00000381879:T132M;ENSP00000288319:T132M;ENSP00000381871:T40M;ENSP00000381882:T139M;ENSP00000414150:T139M;ENSP00000381881:T139M;ENSP00000394694:T139M;ENSP00000396268:T40M;ENSP00000381891:T139M	ENSP00000288319:T132M	T	-	2	0	ERG	38697495	1.000000	0.71417	0.106000	0.21319	0.686000	0.39977	4.789000	0.62446	1.043000	0.40175	0.655000	0.94253	ACG	G|1.000;A|0.000	0.000	weak		0.517	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39775625	G	A	39775625	3	1	18	1	0	0	0	0	1	0	0	0	5222	1145	40	1	1072	1	ERG	21	39775625	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		39775625	8354270	206	4617										
U2AF1	7307	hgsc.bcm.edu	37	chr21	44513242	44513242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccagatctttcacgatctctCgaccgcctcctgtcacgctc	6	18	4	1	rs560573558	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr21:44513242C>T	ENST00000291552.4	-	8	785	c.693G>A	c.(691-693)tcG>tcA	p.S231S	U2AF1_ENST00000486519.1_5'Flank|U2AF1_ENST00000380276.2_Silent_p.S231S|U2AF1_ENST00000398137.1_Silent_p.S158S|U2AF1_ENST00000459639.1_Silent_p.S158S	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	231	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CACGATCTCTCGACCGCCTCC	0.577			Mis		"CLL, MDS"																																p.S231S		Atlas-SNP	.		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	U2AF1_ENST00000380276,NS,neuroblastoma,-1,4	U2AF1	322	4	0			c.G693A						PASS	.						52	55	54					21																	44513242		2203	4300	6503	SO:0001819	synonymous_variant	7307	exon8			ATCTCTCGACCGC	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.693G>A	21.37:g.44513242C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	62	8	0.129032	NM_001025203	Q701P4|Q71RF1	Silent	SNP	ENST00000291552.4	37	CCDS13694.1																																																																																			.	.	none		0.577	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		T	44513242	C	T	44513242	2	4	18	1	0	0	0	0	0	0	0	1	16818	871	31	1		1	U2AF1	21	44513242	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	4737617	44513242	3616653	207	4618										
KRTAP10-7	386675	hgsc.bcm.edu	37	chr21	46021011	46021011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	agcaggcctgctgtgtgcccAtctgctgcaagcctgtctgc	12	14	2	0	rs7283052		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr21:46021011A>G	ENST00000380102.2	+	1	515	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	164	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I164V(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGTGTGCCCATCTGCTGCAA	0.612																																					p.I159V		Atlas-SNP	.											KRTAP10-7,trunk,malignant_melanoma,0,1	KRTAP10-7	41	1	1	Substitution - Missense(1)	skin(1)	c.A475G						scavenged	.						54	58	57					21																	46021011		2197	4272	6469	SO:0001583	missense	386675	exon2			GTGCCCATCTGCT	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.490A>G	21.37:g.46021011A>G	ENSP00000369445:p.Ile164Val	Somatic	247	16	0.0647773		WXS	Illumina HiSeq	Phase_I	291	30	0.103093	NM_198689	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	0.008	-1.901051	0.00517	.	.	ENSG00000205441	ENST00000380102	T	0.01209	5.17	3.93	-7.86	0.01187	.	.	.	.	.	T	0.00328	0.0010	N	0.00666	-1.275	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43065	-0.9414	8	0.06625	T	0.88	.	2.9848	0.05964	0.4214:0.098:0.3665:0.114	rs7283052	159	P60409-2	.	V	164	ENSP00000369445:I164V	ENSP00000369445:I164V	I	+	1	0	KRTAP10-7	44845439	0.195000	0.23338	0.000000	0.03702	0.013000	0.08279	0.334000	0.19787	-1.989000	0.00979	-2.846000	0.00104	ATC	A|0.250;G|0.750	0.750	weak		0.612	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		G	46021011	A	G	46021011	3	3	18	1	0	0	0	0	1	0	0	0	8514	217	8	2	481	2	KRTAP10-7	21	46021011	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	1507769	46021011	2108884	208	4619										
POTEH	23784	hgsc.bcm.edu	37	chr22	16287663	16287663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcccacgttgctcttgccgcTccccctgcaccaggggaagc	11	18	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:16287663T>C	ENST00000343518.6	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	75										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.582																																					p.S75G		Atlas-SNP	.											POTEH,colon,carcinoma,+2,2	POTEH	114	2	0			c.A223G						scavenged	.						88	103	98					22																	16287663		2089	3885	5974	SO:0001583	missense	23784	exon1			TGCCGCTCCCCCT	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.223A>G	22.37:g.16287663T>C	ENSP00000340610:p.Ser75Gly	Somatic	757	10	0.01321		WXS	Illumina HiSeq	Phase_I	780	15	0.0192308	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	6.051	0.377727	0.11466	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.33865	1.39	.	.	.	.	.	.	.	.	T	0.32071	0.0817	L	0.52573	1.65	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.40572	-0.9556	7	0.87932	D	0	.	.	.	.	.	75	Q6S545	POTEH_HUMAN	G	75	ENSP00000340610:S75G	ENSP00000340610:S75G	S	-	1	0	POTEH	14667663	0.008000	0.16893	0.070000	0.20053	0.071000	0.16799	0.280000	0.18790	0.129000	0.18514	0.128000	0.15822	AGC	.	.	none		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287663	T	C	16287663	3	2	18	1	0	0	0	0	1	0	0	0	12267	1551	54	3	1454	3	POTEH	22	16287663	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10		16287663	35016903	209	4620										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230310	23230310	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcccaggcagcgctggccccTgctgctgctgggtctggcca	14	16	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230310T>A	ENST00000526893.1	+	1	351	c.77T>A	c.(76-78)cTg>cAg	p.L26Q	IGLL5_ENST00000532223.2_Missense_Mutation_p.L26Q|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.L26Q	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	26						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CGCTGGCCCCTGCTGCTGCTG	0.662																																					p.L26Q		Atlas-SNP	.											.	IGLL5	26	.	0			c.T77A						PASS	.																																			SO:0001583	missense	100423062	exon1			GGCCCCTGCTGCT	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.77T>A	22.37:g.23230310T>A	ENSP00000431254:p.Leu26Gln	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	107	20	0.186916	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497679	0.44455	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00792	5.69;5.7	3.81	1.57	0.23409	.	.	.	.	.	T	0.01124	0.0037	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.61800	0.894	T	0.26121	-1.0112	9	0.02654	T	1	.	3.9146	0.09217	0.0:0.1156:0.2159:0.6685	.	26	B9A064	IGLL5_HUMAN	Q	26	ENSP00000436353:L26Q;ENSP00000431254:L26Q	ENSP00000431254:L26Q	L	+	2	0	IGLL5	21560310	0.019000	0.18553	0.000000	0.03702	0.079000	0.17450	2.550000	0.45811	0.262000	0.21774	0.523000	0.50628	CTG	.	.	none		0.662	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230310	T	A	23230310	3	1	18	1	0	0	0	0	1	0	0	0	7594	1580	55	5	79	5	IGLL5	22	23230310	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	6942647	23230310	28074256	210	4621			4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230348	23230348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccatggtcgcccatggcctgCtgcgcccaatggttgcaccg	12	16	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230348C>T	ENST00000526893.1	+	1	389	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IGLL5_ENST00000532223.2_Silent_p.L39L|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.L39L	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	39						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCATGGCCTGCTGCGCCCAAT	0.687																																					p.L39L		Atlas-SNP	.											.	IGLL5	26	.	0			c.C115T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GGCCTGCTGCGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.115C>T	22.37:g.23230348C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	113	19	0.168142	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.687	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230348	C	T	23230348	2	4	18	1	0	0	0	0	0	0	0	1	7594	796	28	2		2	IGLL5	22	23230348	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	38	23230348	28074218	211	4622			4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230386	23230386	+	Silent	SNP	C	C	T													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccgcaaagcggggacccagaCcctggagcctcagttggaag							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230386C>T	ENST00000526893.1	+	1	427	c.153C>T	c.(151-153)gaC>gaT	p.D51D	IGLL5_ENST00000532223.2_Silent_p.D51D|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.D51D	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	51						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGGACCCAGACCCTGGAGCCT	0.677																																					p.T16I		Atlas-SNP	.											.	IGLL5	26	.	0			c.C47T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			CCCAGACCCTGGA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.153C>T	22.37:g.23230386C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	95	14	0.147368	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.677	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230386	C	T	23230386	2	4	18	1	0	0	0	0	0	0	0	1	7594	506	18	2		2	IGLL5	22	23230386	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	38	23230386	28074180	212	4623	88	2	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230394	23230394	+	Missense_Mutation	SNP	C	C	T													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cggggacccagaccctggagCctcagttggaagcagccgat							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230394C>T	ENST00000526893.1	+	1	435	c.161C>T	c.(160-162)gCc>gTc	p.A54V	IGLL5_ENST00000532223.2_Missense_Mutation_p.A54V|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.A54V	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	54						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GACCCTGGAGCCTCAGTTGGA	0.667																																					p.A54V		Atlas-SNP	.											.	IGLL5	26	.	0			c.C161T						PASS	.																																			SO:0001583	missense	100423062	exon1			CTGGAGCCTCAGT	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.161C>T	22.37:g.23230394C>T	ENSP00000431254:p.Ala54Val	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	92	13	0.141304	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975826	0.53720	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00617	6.19;6.19	3.92	-1.07	0.09968	.	.	.	.	.	T	0.00552	0.0018	L	0.29908	0.895	0.09310	N	1	B	0.21821	0.061	B	0.11329	0.006	T	0.47071	-0.9145	9	0.87932	D	0	.	2.5676	0.04787	0.1918:0.3543:0.3485:0.1053	.	54	B9A064	IGLL5_HUMAN	V	54	ENSP00000436353:A54V;ENSP00000431254:A54V	ENSP00000431254:A54V	A	+	2	0	IGLL5	21560394	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.197000	0.17197	-0.079000	0.12707	-0.152000	0.13540	GCC	.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230394	C	T	23230394	3	4	18	1	0	0	0	0	1	0	0	0	7594	739	26	2	163	2	IGLL5	22	23230394	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	8	23230394	28074172	213	4624	88	2	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230419	23230419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gttggaagcagccgatccagCctgcggagcctgtggggcag	17	11	0	0	rs554734650	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230419C>T	ENST00000526893.1	+	1	460	c.186C>T	c.(184-186)agC>agT	p.S62S	IGLL5_ENST00000532223.2_Silent_p.S62S|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.S62S	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	62						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCCGATCCAGCCTGCGGAGCC	0.647													C|||	3	0.000599042	0.0008	0.0	5008	,	,		11441	0.001		0.001	False		,,,				2504	0.0				p.A27V		Atlas-SNP	.											.	IGLL5	26	.	0			c.C80T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			ATCCAGCCTGCGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.186C>T	22.37:g.23230419C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	81	24	0.296296	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.647	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230419	C	T	23230419	2	4	18	1	0	0	0	0	0	0	0	1	7594	738	26	2		2	IGLL5	22	23230419	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	25	23230419	28074147	214	4625			4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230436	23230436	+	Missense_Mutation	SNP	G	G	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cagcctgcggagcctgtgggGcaggtaaggggcaagagatt					rs541593342	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230436G>A	ENST00000526893.1	+	1	477	c.203G>A	c.(202-204)gGc>gAc	p.G68D	IGLL5_ENST00000532223.2_Missense_Mutation_p.G68D|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.G68D	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	68						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGCCTGTGGGGCAGGTAAGGG	0.642													G|||	6	0.00119808	0.0023	0.0029	5008	,	,		11793	0.0		0.001	False		,,,				2504	0.0				p.G68D		Atlas-SNP	.											.	IGLL5	26	.	0			c.G203A						PASS	.																																			SO:0001583	missense	100423062	exon1			TGTGGGGCAGGTA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.203G>A	22.37:g.23230436G>A	ENSP00000431254:p.Gly68Asp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	66	7	0.106061	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169735	0.21621	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00638	6.04;6.53	3.92	-2.62	0.06152	.	.	.	.	.	T	0.00524	0.0017	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	9	0.56958	D	0.05	.	1.8547	0.03176	0.21:0.1724:0.4462:0.1715	.	68	B9A064	IGLL5_HUMAN	D	68	ENSP00000436353:G68D;ENSP00000431254:G68D	ENSP00000431254:G68D	G	+	2	0	IGLL5	21560436	0.005000	0.15991	0.008000	0.14137	0.042000	0.13812	0.008000	0.13197	-0.478000	0.06823	-0.195000	0.12781	GGC	.	.	none		0.642	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230436	G	A	23230436	3	1	18	1	0	0	0	0	1	0	0	0	7594	1203	42	2	205	2	IGLL5	22	23230436	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	17	23230436	28074130	215	4626	89	3	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230439	23230439	+	Splice_Site	SNP	G	G	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	cctgcggagcctgtggggcaGgtaaggggcaagagattcca							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230439G>A	ENST00000526893.1	+	1	480	c.206G>A	c.(205-207)aGg>aAg	p.R69K	IGLL5_ENST00000532223.2_Splice_Site_p.S69N|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Splice_Site_p.R69K	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	69						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTGTGGGGCAGGTAAGGGGCA	0.627																																					p.R69K		Atlas-SNP	.											.	IGLL5	26	.	0			c.G206A						PASS	.																																			SO:0001630	splice_region_variant	100423062	exon1			GGGGCAGGTAAGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.206+1G>A	22.37:g.23230439G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	64	15	0.234375	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.883|9.883	1.202015|1.202015	0.22121|0.22121	.|.	.|.	ENSG00000254709|ENSG00000254709	ENST00000526893;ENST00000531372|ENST00000532223	T|T	0.00801|0.00561	5.68|6.59	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	.|.	.|.	.|.	.|.	T|T	0.00637|0.00637	0.0021|0.0021	L|L	0.27053|0.27053	0.805|0.805	0.45718|0.45718	D|D	0.99862|0.99862	D|.	0.57571|.	0.98|.	D|.	0.67548|.	0.952|.	D|D	0.86314|0.86314	0.1688|0.1688	9|7	0.66056|0.28530	D|T	0.02|0.3	.|.	11.74|11.74	0.51788|0.51788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	69|.	B9A064|.	IGLL5_HUMAN|.	K|N	69|69	ENSP00000431254:R69K|ENSP00000436353:S69N	ENSP00000431254:R69K|ENSP00000436353:S69N	R|S	+|+	2|2	0|0	IGLL5|IGLL5	21560439|21560439	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.199000|0.199000	0.23934|0.23934	1.700000|1.700000	0.37815|0.37815	2.481000|2.481000	0.83766|0.83766	0.643000|0.643000	0.83706|0.83706	AGG|AGC	.	.	none		0.627	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	Missense_Mutation	A	23230439	G	A	23230439	5	1	18	1	0	0	0	0	0	0	1	0	7594	1014	35	2	208	2	IGLL5	22	23230439	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3	23230439	28074127	216	4627	89	3	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230440	23230440	+	Splice_Site	SNP	G	G	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ctgcggagcctgtggggcagGtaaggggcaagagattccag							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23230440G>A	ENST00000526893.1	+	1	480		c.e1+1		IGLL5_ENST00000532223.2_Splice_Site|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Splice_Site	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGTGGGGCAGGTAAGGGGCAA	0.627																																					.		Atlas-SNP	.											.	IGLL5	26	.	0			c.100+1G>A						PASS	.																																			SO:0001630	splice_region_variant	100423062	exon1			GGGCAGGTAAGGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.206+1G>A	22.37:g.23230440G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	61	14	0.229508	NM_001256296		Splice_Site	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271539	0.23221	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.74	0.51788	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGLL5	21560440	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	1.700000	0.37815	2.481000	0.83766	0.643000	0.83706	.	.	.	none		0.627	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	Intron	A	23230440	G	A	23230440	5	1	18	1	0	0	0	0	0	0	1	0	7594	1275	44	2	209	2	IGLL5	22	23230440	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1	23230440	28074126	217	4628	89	3	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23235998	23235998	+	Splice_Site	SNP	G	G	A													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ggaccaaggtcaccgtcctaGgtaagtggctctcaaccttt					rs201857114	byFrequency	TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23235998G>A	ENST00000526893.1	+	2	599	c.325G>A	c.(325-327)Ggt>Agt	p.G109S	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.2_Splice_Site_p.G110S|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	109	J region (By similarity to lambda light- chain).					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CACCGTCCTAGGTAAGTGGCT	0.592													G|||	4	0.000798722	0.0023	0.0	5008	,	,		12894	0.001		0.0	False		,,,				2504	0.0				p.G109S		Atlas-SNP	.											.	IGLL5	26	.	0			c.G325A						PASS	.	G	SER/GLY	0,4270		0,0,2135	88	100	96		325	2.4	1	22		96	1,8505		0,1,4252	yes	missense-near-splice	IGLL5	NM_001178126.1	56	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	benign	109/215	23235998	1,12775	2135	4253	6388	SO:0001630	splice_region_variant	100423062	exon2			GTCCTAGGTAAGT	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.325+1G>A	22.37:g.23235998G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	74	20	0.27027	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395359	0.25205	0.0	1.18E-4	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00570	6.51;6.51	3.51	2.43	0.29744	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00580	0.0019	.	.	.	0.80722	D	1	B	0.25772	0.134	B	0.32624	0.149	T	0.67356	-0.5691	8	0.52906	T	0.07	.	8.0064	0.30327	0.0:0.0:0.7569:0.2431	.	109	B9A064	IGLL5_HUMAN	S	110;109	ENSP00000436353:G110S;ENSP00000431254:G109S	ENSP00000431254:G109S	G	+	1	0	IGLL5	21565998	0.993000	0.37304	0.977000	0.42913	0.289000	0.27227	2.340000	0.43974	0.781000	0.33589	0.491000	0.48974	GGT	.	.	weak		0.592	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	Missense_Mutation	A	23235998	G	A	23235998	5	1	18	1	0	0	0	0	0	0	1	0	7594	1014	35	2	331	2	IGLL5	22	23235998	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	5558	23235998	28068568	218	4629	90	2	4	28		10	6	5690	N	T_G_C	8.115998e-10
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23235999	23235999	+	Splice_Site	SNP	G	G	C													0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gaccaaggtcaccgtcctagGtaagtggctctcaacctttc							TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:23235999G>C	ENST00000526893.1	+	2	599		c.e2+1		IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.2_Splice_Site|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						ACCGTCCTAGGTAAGTGGCTC	0.587																																					.		Atlas-SNP	.											.	IGLL5	26	.	0			c.325+1G>C						PASS	.						88	100	96					22																	23235999		2136	4255	6391	SO:0001630	splice_region_variant	100423062	exon2			TCCTAGGTAAGTG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.325+1G>C	22.37:g.23235999G>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	75	21	0.28	NM_001178126		Splice_Site	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063224	0.19987	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7103	0.45980	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGLL5	21565999	1.000000	0.71417	0.997000	0.53966	0.297000	0.27493	4.982000	0.63825	1.990000	0.58119	0.491000	0.48974	.	.	.	none		0.587	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	Intron	C	23235999	G	C	23235999	5	2	18	1	0	0	0	0	0	0	1	0	7594	1275	44	4	332	4	IGLL5	22	23235999	Splice_Site	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	1	23235999	28068567	219	4630	90	2	4	28		10	6	5690	N	T_G_C	8.115998e-10
MCHR1	2847	hgsc.bcm.edu	37	chr22	41076964	41076964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tgtccccaggatcacctcctCgcacggggagcatctcctac	9	17	2	0	rs200627010		TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chr22:41076964C>T	ENST00000249016.4	+	2	997	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R101C	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	101					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCACCTCCTCGCACGGGGAG	0.577																																					p.R101C		Atlas-SNP	.											MCHR1,NS,carcinoma,0,1	MCHR1	45	1	0			c.C301T						scavenged	.						123	95	105					22																	41076964		2203	4300	6503	SO:0001583	missense	2847	exon2			CCTCCTCGCACGG		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.301C>T	22.37:g.41076964C>T	ENSP00000249016:p.Arg101Cys	Somatic	77	1	0.012987		WXS	Illumina HiSeq	Phase_I	82	21	0.256098	NM_005297	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498061	0.26861	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.36520	1.25;1.25	5.36	5.36	0.76844	.	0.229124	0.38959	N	0.001519	T	0.24928	0.0605	L	0.27053	0.805	0.22639	N	0.998904	B	0.22414	0.069	B	0.16722	0.016	T	0.10042	-1.0647	10	0.36615	T	0.2	.	10.3991	0.44218	0.0:0.9107:0.0:0.0893	.	101	Q99705	MCHR1_HUMAN	C	101	ENSP00000249016:R101C;ENSP00000370841:R101C	ENSP00000249016:R101C	R	+	1	0	MCHR1	39406910	0.001000	0.12720	0.423000	0.26634	0.033000	0.12548	0.312000	0.19397	2.669000	0.90835	0.655000	0.94253	CGC	.	.	weak		0.577	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		T	41076964	C	T	41076964	3	4	18	1	0	0	0	0	1	0	0	0	9382	884	31	1	307	1	MCHR1	22	41076964	Missense_Mutation	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	17840965	41076964	10227602	220	4631										
ZBED1	9189	hgsc.bcm.edu	37	chrX	2408513	2408513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	aggcttcacgcatctgctccGtgttgctcttgacgaactcg	10	13	3	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:2408513G>A	ENST00000381223.4	-	2	451	c.248C>T	c.(247-249)aCg>aTg	p.T83M	ZBED1_ENST00000381218.3_Missense_Mutation_p.T83M|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.T83M|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	83					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCTGCTCCGTGTTGCTCTT	0.632																																					p.T83M		Atlas-SNP	.											.	ZBED1	64	.	0			c.C248T						PASS	.						195	174	181					X																	2408513		2203	4296	6499	SO:0001583	missense	9189	exon2			TGCTCCGTGTTGC	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.248C>T	X.37:g.2408513G>A	ENSP00000370621:p.Thr83Met	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	299	29	0.09699	NM_001171135	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169287	0.57584	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.172732	0.35207	U	0.003379	T	0.63082	0.2481	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.55842	-0.8077	8	0.48119	T	0.1	-26.8773	13.0583	0.58992	0.0:0.0:1.0:0.0	.	83	O96006	ZBED1_HUMAN	M	83	.	ENSP00000370616:T83M	T	-	2	0	ZBED1	2418513	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.339000	0.72969	1.086000	0.41228	0.425000	0.28330	ACG	.	.	none		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		A	2408513	G	A	2408513	3	1	18	1	0	0	0	0	1	0	0	0	17514	1145	40	1	1840	1	ZBED1	23	2408513	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10		2408513	152862047	221	4632										
MAGEB6	158809	hgsc.bcm.edu	37	chrX	26212458	26212458	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gcaggtgtttcaggctcaaaAtatgatgtggctgccgaggg	15	7	2	1			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:26212458A>T	ENST00000379034.1	+	2	644	c.495A>T	c.(493-495)aaA>aaT	p.K165N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	165										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAGGCTCAAAATATGATGTGG	0.488																																					p.K165N		Atlas-SNP	.											.	MAGEB6	91	.	0			c.A495T						PASS	.						53	48	50					X																	26212458		2202	4300	6502	SO:0001583	missense	158809	exon2			CTCAAAATATGAT	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.495A>T	X.37:g.26212458A>T	ENSP00000368320:p.Lys165Asn	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_173523	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	A	6.511	0.462510	0.12342	.	.	ENSG00000176746	ENST00000379034	T	0.01947	4.54	1.74	-3.48	0.04739	.	.	.	.	.	T	0.01353	0.0044	N	0.24115	0.695	0.09310	N	1	P	0.47677	0.899	B	0.40009	0.316	T	0.31251	-0.9950	9	0.35671	T	0.21	.	0.7658	0.01015	0.2468:0.3792:0.1733:0.2007	.	165	Q8N7X4	MAGB6_HUMAN	N	165	ENSP00000368320:K165N	ENSP00000368320:K165N	K	+	3	2	MAGEB6	26122379	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.010000	0.12743	-1.568000	0.01670	0.376000	0.23039	AAA	.	.	none		0.488	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212458	A	T	26212458	3	4	18	1	0	0	0	0	1	0	0	0	9179	98	4	5	497	5	MAGEB6	23	26212458	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	23803945	26212458	129058102	222	4633										
USP9X	8239	hgsc.bcm.edu	37	chrX	41056722	41056722	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttcaaacttctgagaaaaaaTttcatattggttgtgaaaaa	6	4	3	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:41056722T>A	ENST00000324545.8	+	29	4972	c.4339T>A	c.(4339-4341)Ttt>Att	p.F1447I	USP9X_ENST00000378308.2_Missense_Mutation_p.F1447I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1447					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|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 protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGAGAAAAAATTTCATATTGG	0.363																																					p.F1447I	Ovarian(172;1807 2695 35459 49286)	Atlas-SNP	.											.	USP9X	385	.	0			c.T4339A						PASS	.						72	71	72					X																	41056722		2050	4201	6251	SO:0001583	missense	8239	exon29			AAAAAATTTCATA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4339T>A	X.37:g.41056722T>A	ENSP00000316357:p.Phe1447Ile	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	157	71	0.452229	NM_001039591	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194592	0.58017	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02787	4.16;4.16	5.3	5.3	0.74995	.	0.105859	0.64402	D	0.000002	T	0.02494	0.0076	N	0.14661	0.345	0.40695	D	0.982439	B;B	0.16166	0.016;0.002	B;B	0.20384	0.029;0.008	T	0.57136	-0.7863	10	0.21540	T	0.41	.	14.4424	0.67327	0.0:0.0:0.0:1.0	.	1447;1447	Q93008-1;Q93008	.;USP9X_HUMAN	I	1447	ENSP00000367558:F1447I;ENSP00000316357:F1447I	ENSP00000316357:F1447I	F	+	1	0	USP9X	40941666	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.694000	0.84235	1.859000	0.53934	0.339000	0.21740	TTT	.	.	none		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41056722	T	A	41056722	3	1	18	1	0	0	0	0	1	0	0	0	17087	1493	52	5	4449	5	USP9X	23	41056722	Missense_Mutation	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	14844264	41056722	114213838	223	4634										
WAS	7454	hgsc.bcm.edu	37	chrX	48547156	48547156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	gtccactgccccctgtacctTtggggattgccccaccccca	8	19	0	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:48547156T>C	ENST00000376701.4	+	10	1114	c.1039T>C	c.(1039-1041)Ttg>Ctg	p.L347L		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	347					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCTGTACCTTTGGGGATTGC	0.701			"Mis, N, F, S"			lymphoma																															p.L347L		Atlas-SNP	.		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	.	WAS	51	.	0			c.T1039C						PASS	.						7	7	7					X																	48547156		2147	4185	6332	SO:0001819	synonymous_variant	7454	exon10			GTACCTTTGGGGA	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1039T>C	X.37:g.48547156T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	184	95	0.516304	NM_000377	Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	CCDS14303.1																																																																																			.	.	none		0.701	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		C	48547156	T	C	48547156	2	2	18	1	0	0	0	0	0	0	0	1	17248	1838	64	2		2	WAS	23	48547156	Silent	SNP	T	TCGA-FF-A7CR-01A-11D-A382-10	7490434	48547156	106723404	224	4635										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49083586	49083586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ttctctctctccttggagaaCtccctgagggaggaggatag	12	10	2	2			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:49083586C>T	ENST00000376265.2	-	9	1183	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	CACNA1F_ENST00000376251.1_Silent_p.E309E|CACNA1F_ENST00000323022.5_Silent_p.E374E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	374					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTGGAGAACTCCCTGAGGG	0.562																																					p.E374E		Atlas-SNP	.											.	CACNA1F	218	.	0			c.G1122A						PASS	.						18	14	15					X																	49083586		2185	4254	6439	SO:0001819	synonymous_variant	778	exon9			GGAGAACTCCCTG	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1122G>A	X.37:g.49083586C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	45	18	0.4	NM_001256789	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																			.	.	none		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49083586	C	T	49083586	2	4	18	1	0	0	0	0	0	0	0	1	2543	564	20	2		2	CACNA1F	23	49083586	Silent	SNP	C	TCGA-FF-A7CR-01A-11D-A382-10	536430	49083586	106186974	225	4636										
HEPH	9843	hgsc.bcm.edu	37	chrX	65480101	65480101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	tcttcactgttttttctcgaAcaggtaagtcctaacttccc	5	12	3	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:65480101A>G	ENST00000343002.2	+	18	3860	c.3196A>G	c.(3196-3198)Aca>Gca	p.T1066A	HEPH_ENST00000374727.3_Missense_Mutation_p.T1069A|HEPH_ENST00000441993.2_Missense_Mutation_p.T1069A|HEPH_ENST00000419594.1_Missense_Mutation_p.T877A|HEPH_ENST00000519389.1_Missense_Mutation_p.T1120A|HEPH_ENST00000336279.5_Missense_Mutation_p.T799A			Q9BQS7	HEPH_HUMAN	hephaestin	1066	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTTTCTCGAACAGGTAAGTC	0.473																																					p.T1120A		Atlas-SNP	.											.	HEPH	224	.	0			c.A3358G						PASS	.						92	74	80					X																	65480101		2203	4300	6503	SO:0001583	missense	9843	exon19			TCTCGAACAGGTA	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3196A>G	X.37:g.65480101A>G	ENSP00000343939:p.Thr1066Ala	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	56	30	0.535714	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	A	4.208	0.037327	0.08148	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99245	-5.62;-5.61;-5.62;-5.58;-5.62;-5.61	4.81	-0.296	0.12824	Cupredoxin (1);	1.165000	0.06166	N	0.676881	D	0.94434	0.8209	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.06405	0.0;0.002;0.002	D	0.92975	0.6401	10	0.09338	T	0.73	.	4.6493	0.12587	0.3017:0.2357:0.4627:0.0	.	1120;877;1066	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	A	1120;1069;799;1069;877;1066	ENSP00000430620:T1120A;ENSP00000363859:T1069A;ENSP00000337418:T799A;ENSP00000411687:T1069A;ENSP00000413211:T877A;ENSP00000343939:T1066A	ENSP00000337418:T799A	T	+	1	0	HEPH	65396826	0.000000	0.05858	0.021000	0.16686	0.161000	0.22273	0.012000	0.13287	-0.060000	0.13132	0.486000	0.48141	ACA	.	.	none		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		G	65480101	A	G	65480101	3	3	18	1	0	0	0	0	1	0	0	0	7054	43	2	2	3432	2	HEPH	23	65480101	Missense_Mutation	SNP	A	TCGA-FF-A7CR-01A-11D-A382-10	16396515	65480101	89790459	226	4637										
DGAT2L6	347516	hgsc.bcm.edu	37	chrX	69424319	69424319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0414746543778802	9	1	0.647662213740458	1.81799919646444	0.427499811049807	1	1	0	ccatggccggggcttcactcGcggatcctggggcttcctgc	14	15	1	0			TCGA-FF-A7CR-01A-11D-A382-10	TCGA-FF-A7CR-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f8b1d5ee-a86d-4505-96f8-3e8b0c050946	2bbed379-b7b8-4107-afe0-bfd42b041bb3	g.chrX:69424319G>A	ENST00000333026.3	+	6	912	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGCTTCACTCGCGGATCCTGG	0.502																																					p.R271H		Atlas-SNP	.											.	DGAT2L6	40	.	0			c.G812A						PASS	.						74	69	71					X																	69424319		2203	4300	6503	SO:0001583	missense	347516	exon6			TCACTCGCGGATC	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.812G>A	X.37:g.69424319G>A	ENSP00000328036:p.Arg271His	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	79	32	0.405063	NM_198512	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	4.247	0.044849	0.08196	.	.	ENSG00000184210	ENST00000333026	T	0.14022	2.54	4.98	1.3	0.21679	.	0.760798	0.11324	N	0.575729	T	0.10809	0.0264	L	0.39245	1.2	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.32693	-0.9897	10	0.42905	T	0.14	-13.1803	5.2833	0.15688	0.2715:0.0:0.5826:0.1459	.	271	Q6ZPD8	DG2L6_HUMAN	H	271	ENSP00000328036:R271H	ENSP00000328036:R271H	R	+	2	0	DGAT2L6	69341044	0.000000	0.05858	0.750000	0.31169	0.053000	0.15095	-1.212000	0.02994	-0.055000	0.13244	-1.016000	0.02456	CGC	.	.	none		0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69424319	G	A	69424319	3	1	18	1	0	0	0	0	1	0	0	0	4459	1087	38	1	834	1	DGAT2L6	23	69424319	Missense_Mutation	SNP	G	TCGA-FF-A7CR-01A-11D-A382-10	3944218	69424319	85846241	227	4638										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22182158	22182158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gccttcgcagggagctggccGccggggccccctgacgagta	16	15	0	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:22182158G>A	ENST00000374695.3	-	46	5791	c.5712C>T	c.(5710-5712)ggC>ggT	p.G1904G	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1904	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGAGCTGGCCGCCGGGGCCCC	0.672																																					p.G1904G		Atlas-SNP	.											.	HSPG2	311	.	0			c.C5712T						PASS	.						12	13	12					1																	22182158		2193	4281	6474	SO:0001819	synonymous_variant	3339	exon46			CTGGCCGCCGGGG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5712C>T	1.37:g.22182158G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	39	8	0.205128	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			.	.	none		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22182158	G	A	22182158	2	1	19	1	0	0	0	0	0	0	0	1	7430	1074	38	1		1	HSPG2	1	22182158	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		22182158	227068463	1	4639										
LEPR	3953	hgsc.bcm.edu	37	chr1	66036295	66036295	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tcaaagaatacttcaaattcGaatggacattatgagacagc	7	7	2	2	rs376850470		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:66036295G>T	ENST00000349533.6	+	4	365	c.180G>T	c.(178-180)tcG>tcT	p.S60S	LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.S60S|LEPR_ENST00000371060.3_Silent_p.S60S|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000344610.8_Silent_p.S60S|LEPR_ENST00000371058.1_Silent_p.S60S	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTCAAATTCGAATGGACATT	0.383																																					p.S60S		Atlas-SNP	.											LEPR_ENST00000349533,NS,carcinoma,0,6	LEPR	284	6	0			c.G180T						scavenged	.						124	122	123					1																	66036295		2203	4300	6503	SO:0001819	synonymous_variant	3953	exon4			AAATTCGAATGGA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.180G>T	1.37:g.66036295G>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	118	3	0.0254237	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																			.	.	none		0.383	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66036295	G	T	66036295	2	4	19	1	0	0	0	0	0	0	0	1	8728	1045	37	4		4	LEPR	1	66036295	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	43854137	66036295	183214326	2	4640										
FLG	2312	hgsc.bcm.edu	37	chr1	152285144	152285144	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ctgactaccactggaccctcGgtgtccactgtctctgactg	9	15	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:152285144G>T	ENST00000368799.1	-	3	2253	c.2218C>A	c.(2218-2220)Cga>Aga	p.R740R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCTCGGTGTCCACTG	0.572									Ichthyosis																												p.R740R		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.C2218A						scavenged	.						357	373	367					1																	152285144		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ACCCTCGGTGTCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2218C>A	1.37:g.152285144G>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	none		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152285144	G	T	152285144	2	4	19	1	0	0	0	0	0	0	0	1	5922	1124	39	4		4	FLG	1	152285144	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	86248849	152285144	96965477	3	4641										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842330	154842330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggtggtggctgctgctgctgTtgctgctgctgctgctgctg	17	10	0	0			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:154842330T>C	ENST00000271915.4	-	1	426	c.111A>G	c.(109-111)caA>caG	p.Q37Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	37	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgttgctgctgct	0.677																																					p.Q37Q		Atlas-SNP	.											KCNN3,rectum,carcinoma,0,1	KCNN3	141	1	0			c.A111G						scavenged	.						8	8	8					1																	154842330		1936	3838	5774	SO:0001819	synonymous_variant	3782	exon1			CTGCTGTTGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.111A>G	1.37:g.154842330T>C		Somatic	86	2	0.0232558		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.677	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842330	T	C	154842330	2	2	19	1	0	0	0	0	0	0	0	1	8080	1722	60	2		2	KCNN3	1	154842330	Silent	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	2557186	154842330	94408291	4	4642										
RC3H1	149041	hgsc.bcm.edu	37	chr1	173951933	173951933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	agttttagaggcttgaggaaAccgtggctccaatctttgca	11	8	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:173951933A>T	ENST00000367696.2	-	5	1051	c.700T>A	c.(700-702)Ttt>Att	p.F234I	RC3H1_ENST00000258349.4_Missense_Mutation_p.F234I|RC3H1_ENST00000367694.2_Missense_Mutation_p.F234I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	234					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTTGAGGAAACCGTGGCTCC	0.433																																					p.F234I		Atlas-SNP	.											.	RC3H1	110	.	0			c.T700A						PASS	.						103	103	103					1																	173951933		2203	4300	6503	SO:0001583	missense	149041	exon4			GAGGAAACCGTGG	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.700T>A	1.37:g.173951933A>T	ENSP00000356669:p.Phe234Ile	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	158	73	0.462025	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	A	35	5.463575	0.96257	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95412	-3.7;-3.7;-3.7	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.996;0.982	D	0.98323	1.0529	10	0.87932	D	0	-16.8265	16.0858	0.81049	1.0:0.0:0.0:0.0	.	234;234;234;234	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	I	234	ENSP00000356669:F234I;ENSP00000258349:F234I;ENSP00000356667:F234I	ENSP00000258349:F234I	F	-	1	0	RC3H1	172218556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.264000	0.75181	0.533000	0.62120	TTT	.	.	none		0.433	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		T	173951933	A	T	173951933	3	4	19	1	0	0	0	0	1	0	0	0	13166	43	2	5	2765	5	RC3H1	1	173951933	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10	19109603	173951933	75298688	5	4643										
CAMSAP1L1	23271	hgsc.bcm.edu	37	chr1	200818866	200818866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aaaaataacacctttgaatcGaaccttgacacctcctcggt	5	12	0	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:200818866G>A	ENST00000236925.4	+	12	3051	c.3002G>A	c.(3001-3003)cGa>cAa	p.R1001Q	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R990Q|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R974Q			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1001					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCTTTGAATCGAACCTTGACA	0.418																																					p.R990Q		Atlas-SNP	.											CAMSAP1L1,NS,carcinoma,+1,1	.	.	1	0			c.G2969A						PASS	.						100	105	103					1																	200818866		2203	4300	6503	SO:0001583	missense	23271	exon11			TGAATCGAACCTT	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3002G>A	1.37:g.200818866G>A	ENSP00000236925:p.Arg1001Gln	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	185	97	0.524324	NM_203459	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.407876	0.83340	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.35973	1.32;1.28;1.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.951;0.999	T	0.58070	-0.7701	10	0.44086	T	0.13	-15.275	20.3214	0.98679	0.0:0.0:1.0:0.0	.	974;1001;990	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	Q	990;974;1001	ENSP00000351684:R990Q;ENSP00000416800:R974Q;ENSP00000236925:R1001Q	ENSP00000236925:R1001Q	R	+	2	0	CAMSAP1L1	199085489	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.844000	0.86867	2.804000	0.96469	0.655000	0.94253	CGA	.	.	none		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		A	200818866	G	A	200818866	3	1	19	1	0	0	0	0	1	0	0	0	2612	1058	37	1	3011	1	CAMSAP1L1	1	200818866	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	26866933	200818866	48431755	6	4644										
CHIT1	1118	hgsc.bcm.edu	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	agtcatctaagtccagtgccCagaccatggccccgcccagt	9	16	2	1	rs201320385|rs3831317|rs150192398	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		Atlas-SNP	.											CHIT1,colon,carcinoma,0,2	CHIT1	61	2	0			c.G1073A						scavenged	.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	46	3	0.0652174	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011	0.011	strong		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	19	1	0	0	0	0	0	1	0	0	3346	595	21	2	335	2	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	2368084	203186950	46063671	7	4645										
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813483	248813483	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gcaggtggccacagcctttcCcctcccctctgcctcgctca	8	20	2	0	rs151290740	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr1:248813483C>G	ENST00000344889.3	-	1	702	c.703G>C	c.(703-705)Gga>Cga	p.G235R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G235R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGCCTTTCCCCTCCCCTCT	0.517													G|||	130	0.0259585	0.0492	0.0202	5008	,	,		19164	0.0258		0.0169	False		,,,				2504	0.0082				p.G235R		Atlas-SNP	.											OR2T27,trunk,malignant_melanoma,0,1	OR2T27	52	1	1	Substitution - Missense(1)	skin(1)	c.G703C						scavenged	.						50	32	38					1																	248813483		2180	4250	6430	SO:0001583	missense	403239	exon1			CCTTTCCCCTCCC		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.703G>C	1.37:g.248813483C>G	ENSP00000342008:p.Gly235Arg	Somatic	65	5	0.0769231		WXS	Illumina HiSeq	Phase_I	27	3	0.111111	NM_001001824		Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	173	0.07921245421245421	29	0.05894308943089431	26	0.0718232044198895	53	0.09265734265734266	65	0.08575197889182058	.	0.016	-1.514107	0.00975	.	.	ENSG00000187701	ENST00000344889	T	0.00044	8.83	3.42	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.906780	0.08978	N	0.866193	T	0.00012	0.0000	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01570	-1.1322	9	0.27785	T	0.31	.	8.0276	0.30446	0.0:0.1494:0.5166:0.334	.	235	Q8NH04	O2T27_HUMAN	R	235	ENSP00000342008:G235R	ENSP00000342008:G235R	G	-	1	0	OR2T27	246880106	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.226000	0.09139	-0.045000	0.13468	-0.502000	0.04539	GGA	C|0.500;G|0.500	0.500	weak		0.517	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		G	248813483	C	G	248813483	3	3	19	1	0	0	0	0	1	0	0	0	11021	632	22	4	253	4	OR2T27	1	248813483	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	45626533	248813483	437138	8	4646										
TPO	7173	hgsc.bcm.edu	37	chr2	1491693	1491693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ctgacggaaaggctctttgtGctgtccaattccagcacctt	9	12	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr2:1491693G>A	ENST00000345913.4	+	10	1789	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	TPO_ENST00000349624.3_Silent_p.V393V|TPO_ENST00000329066.4_Silent_p.V566V|TPO_ENST00000346956.3_Silent_p.V566V|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.V566V|TPO_ENST00000382198.1_Silent_p.V393V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	566					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCTCTTTGTGCTGTCCAATT	0.577																																					p.V566V		Atlas-SNP	.											.	TPO	224	.	0			c.G1698A						PASS	.						139	118	125					2																	1491693		2203	4300	6503	SO:0001819	synonymous_variant	7173	exon10			CTTTGTGCTGTCC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1698G>A	2.37:g.1491693G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	62	21	0.33871	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1																																																																																			.	.	none		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1491693	G	A	1491693	2	1	19	1	0	0	0	0	0	0	0	1	16407	1306	46	2		2	TPO	2	1491693	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		1491693	241707680	9	4647										
CTNNA2	1496	hgsc.bcm.edu	37	chr2	80801387	80801387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgagttcatcgatgcctctcGcctggtgtatgatggcgttc	12	10	2	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr2:80801387G>A	ENST00000402739.4	+	12	1846	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R293H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R614H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R648H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R614H|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R614H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R614H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	614					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R614H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGCCTCTCGCCTGGTGTAT	0.527																																					p.R614H		Atlas-SNP	.											CTNNA2_ENST00000466387,NS,carcinoma,+1,3	CTNNA2	462	3	1	Substitution - Missense(1)	prostate(1)	c.G1841A						PASS	.						172	164	167					2																	80801387		2149	4276	6425	SO:0001583	missense	1496	exon13			CCTCTCGCCTGGT		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1841G>A	2.37:g.80801387G>A	ENSP00000384638:p.Arg614His	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	106	29	0.273585	NM_001164883	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.472512	0.96274	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.75	5.75	0.90469	.	0.061993	0.64402	D	0.000005	T	0.67655	0.2916	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.79784	0.791;0.993;0.987;0.987	T	0.68187	-0.5475	9	.	.	.	.	18.1307	0.89600	0.0:0.0:1.0:0.0	.	246;614;614;614	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	614;614;648;614;614;614;293	ENSP00000418191:R614H;ENSP00000419295:R614H;ENSP00000355398:R648H;ENSP00000384638:R614H;ENSP00000444675:R614H;ENSP00000441705:R614H;ENSP00000341500:R293H	.	R	+	2	0	CTNNA2	80654898	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.799000	0.99117	2.732000	0.93576	0.655000	0.94253	CGC	.	.	none		0.527	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		A	80801387	G	A	80801387	3	1	19	1	0	0	0	0	1	0	0	0	4013	1087	38	1	1679	1	CTNNA2	2	80801387	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	79309694	80801387	162397986	10	4648										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aatgttttatttctgaatccGcatttcgcaaagaaccattt	5	8	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																					p.A772V		Atlas-SNP	.											RGPD3_ENST00000304514,bladder,carcinoma,+1,6	RGPD3	316	6	0			c.C2315T						scavenged	.						90	75	80					2																	107049632		692	1590	2282	SO:0001583	missense	653489	exon16			GAATCCGCATTTC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val	Somatic	497	2	0.00402414		WXS	Illumina HiSeq	Phase_I	426	5	0.0117371	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG	.	.	none		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107049632	G	A	107049632	3	1	19	1	0	0	0	0	1	0	0	0	13287	1087	38	1	2993	1	RGPD3	2	107049632	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	26248245	107049632	136149741	11	4649										
BAZ2B	29994	hgsc.bcm.edu	37	chr2	160285738	160285738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ccaatggaatacgcagttcaCgttcatctgttactcttctt	6	11	5	0			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr2:160285738C>T	ENST00000392783.2	-	11	2723	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R743H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R643H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R741H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	743	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACGCAGTTCACGTTCATCTGT	0.274																																					p.R743H		Atlas-SNP	.											BAZ2B,NS,carcinoma,-1,1	BAZ2B	196	1	0			c.G2228A						scavenged	.						89	84	86					2																	160285738		1807	4073	5880	SO:0001583	missense	29994	exon11			AGTTCACGTTCAT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2228G>A	2.37:g.160285738C>T	ENSP00000376534:p.Arg743His	Somatic	561	2	0.00356506		WXS	Illumina HiSeq	Phase_I	463	102	0.220302	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753579	0.49362	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	D;D;D;D	0.99479	-5.98;-5.98;-5.98;-2.02	5.05	3.23	0.37069	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.467765	0.15641	N	0.251909	D	0.97932	0.9320	L	0.50333	1.59	0.27152	N	0.961373	B;B;B;B	0.32245	0.039;0.167;0.067;0.361	B;B;B;B	0.26202	0.02;0.04;0.008;0.067	D	0.96004	0.8996	10	0.66056	D	0.02	-0.6977	10.7496	0.46200	0.0:0.8427:0.0:0.1573	.	547;643;741;743	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	H	741;743;743;643	ENSP00000376533:R741H;ENSP00000376534:R743H;ENSP00000348087:R743H;ENSP00000339670:R643H	ENSP00000339670:R643H	R	-	2	0	BAZ2B	159993984	0.697000	0.27767	0.895000	0.35142	0.990000	0.78478	1.322000	0.33689	0.635000	0.30488	-0.142000	0.14014	CGT	.	.	none		0.274	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160285738	C	T	160285738	3	4	19	1	0	0	0	0	1	0	0	0	1332	536	19	1	4386	1	BAZ2B	2	160285738	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	53236106	160285738	82913635	12	4650										
MAGI1	9223	hgsc.bcm.edu	37	chr3	65425591	65425591	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgctgctgctgctgctgctgTtgctgctgctgttgctgctg	14	11	0	0	rs374381483|rs79701778		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr3:65425591T>C	ENST00000497477.2	-	9	1232	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q411Q|MAGI1_ENST00000330909.8_Silent_p.Q411Q|MAGI1_ENST00000483466.1_Silent_p.Q411Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	411	Poly-Gln.				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)		gctgctgctgttgctgctgct	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q411Q		Atlas-SNP	.											MAGI1_ENST00000402939,NS,carcinoma,0,3	MAGI1	481	3	0			c.A1233G						scavenged	.						61	60	61					3																	65425591		2191	4267	6458	SO:0001819	synonymous_variant	9223	exon9			CTGCTGTTGCTGC	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.1233A>G	3.37:g.65425591T>C		Somatic	90	2	0.0222222	1084	WXS	Illumina HiSeq	Phase_I	93	5	0.0537634	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560380	0.03939	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.82	-5.65	0.02459	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.21445	N	0.999683	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	.	7.6202	0.28181	0.0:0.2714:0.1222:0.6064	.	.	.	.	S	292	.	.	N	-	2	0	MAGI1	65400631	0.067000	0.21026	0.000000	0.03702	0.001000	0.01503	-1.642000	0.02006	-1.408000	0.02040	-1.740000	0.00687	AAC	T|0.500;C|0.500	0.500	weak		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		C	65425591	T	C	65425591	2	2	19	1	0	0	0	0	0	0	0	1	9190	1722	60	2		2	MAGI1	3	65425591	Silent	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10		65425591	132596839	13	4651										
EBLN2	55096	hgsc.bcm.edu	37	chr3	73111480	73111480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	atttgagctatctgggaaaaAcagacagtatccactggatg	10	7	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr3:73111480A>C	ENST00000533473.1	+	1	671	c.248A>C	c.(247-249)aAc>aCc	p.N83T	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	83										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TCTGGGAAAAACAGACAGTAT	0.483																																					p.N83T		Atlas-SNP	.											.	EBLN2	18	.	0			c.A248C						PASS	.						34	34	34					3																	73111480		1943	4138	6081	SO:0001583	missense	55096	exon1			GGAAAAACAGACA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.248A>C	3.37:g.73111480A>C	ENSP00000432104:p.Asn83Thr	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	144	8	0.0555556	NM_018029	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	A	2.477	-0.320603	0.05386	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.848	0.10727	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.28038	-1.0056	7	0.20046	T	0.44	.	.	.	.	.	83	Q6P2I7	EBLN2_HUMAN	T	83	.	ENSP00000432104:N83T	N	+	2	0	EBLN2	73194170	0.030000	0.19436	0.004000	0.12327	0.004000	0.04260	-1.980000	0.01492	-0.352000	0.08237	-0.354000	0.07668	AAC	.	.	none		0.483	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		C	73111480	A	C	73111480	3	2	19	1	0	0	0	0	1	0	0	0	4884	43	2	5	250	5	EBLN2	3	73111480	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10	7685889	73111480	124910950	14	4652										
CLSTN2	64084	hgsc.bcm.edu	37	chr3	140275464	140275464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	caactccaggcagttcccaaCggcgggtgtgcggcgcctca	13	15	1	0	rs368537354		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr3:140275464C>T	ENST00000458420.3	+	11	1974	c.1784C>T	c.(1783-1785)aCg>aTg	p.T595M		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	595					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.T595M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGTTCCCAACGGCGGGTGTG	0.572										HNSCC(16;0.037)																											p.T595M	GBM(45;858 913 3709 36904 37282)	Atlas-SNP	.											CLSTN2,caecum,carcinoma,-1,2	CLSTN2	190	2	1	Substitution - Missense(1)	large_intestine(1)	c.C1784T						PASS	.	C	MET/THR	0,4406		0,0,2203	114	102	106		1784	5.4	0.1	3		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLSTN2	NM_022131.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	595/956	140275464	1,13005	2203	4300	6503	SO:0001583	missense	64084	exon11			TCCCAACGGCGGG	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1784C>T	3.37:g.140275464C>T	ENSP00000402460:p.Thr595Met	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	89	13	0.146067	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547528	0.65311	0.0	1.16E-4	ENSG00000158258	ENST00000458420	T	0.35973	1.28	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68526	-0.5385	9	.	.	.	-12.9896	16.9972	0.86371	0.0:1.0:0.0:0.0	.	595	Q9H4D0	CSTN2_HUMAN	M	595	ENSP00000402460:T595M	.	T	+	2	0	CLSTN2	141758154	1.000000	0.71417	0.082000	0.20525	0.276000	0.26787	7.776000	0.85560	2.692000	0.91855	0.563000	0.77884	ACG	.	.	weak		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		T	140275464	C	T	140275464	3	4	19	1	0	0	0	0	1	0	0	0	3562	536	19	1	1826	1	CLSTN2	3	140275464	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	67163984	140275464	57746966	15	4653										
GPR171	29909	hgsc.bcm.edu	37	chr3	150916504	150916504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cgtggtcactaaaagtatgtTgatgagagcctttttcacat	9	7	2	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr3:150916504T>C	ENST00000309180.5	-	3	900	c.670A>G	c.(670-672)Aac>Gac	p.N224D	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAAAGTATGTTGATGAGAGCC	0.388																																					p.N224D		Atlas-SNP	.											.	GPR171	36	.	0			c.A670G						PASS	.						90	88	89					3																	150916504		2203	4300	6503	SO:0001583	missense	29909	exon3			GTATGTTGATGAG	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.670A>G	3.37:g.150916504T>C	ENSP00000308479:p.Asn224Asp	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	242	39	0.161157	NM_013308	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746709	0.30955	.	.	ENSG00000174946	ENST00000309180	T	0.37235	1.21	5.61	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.478447	0.21746	N	0.069745	T	0.38585	0.1046	L	0.58810	1.83	0.24759	N	0.992934	B	0.21905	0.062	B	0.30716	0.119	T	0.31586	-0.9938	10	0.42905	T	0.14	-9.7024	12.6935	0.56990	0.0:0.0:0.3884:0.6116	.	224	O14626	GP171_HUMAN	D	224	ENSP00000308479:N224D	ENSP00000308479:N224D	N	-	1	0	GPR171	152399194	0.979000	0.34478	0.581000	0.28614	0.653000	0.38743	2.825000	0.48096	0.910000	0.36722	0.528000	0.53228	AAC	.	.	none		0.388	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		C	150916504	T	C	150916504	3	2	19	1	0	0	0	0	1	0	0	0	6668	1812	63	2	293	2	GPR171	3	150916504	Missense_Mutation	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	10641040	150916504	47105926	16	4654										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183273174	183273174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	atagttgctggctgcggcaaGcaccacgcggtggcaggaga	16	10	0	1	rs548549593	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr3:183273174G>A	ENST00000341319.3	-	1	303	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	90	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCTGCGGCAAGCACCACGCGG	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15549	0.0		0.0	False		,,,				2504	0.0				p.L90F		Atlas-SNP	.											.	KLHL6	100	.	0			c.C268T						PASS	.						99	89	92					3																	183273174		2203	4300	6503	SO:0001583	missense	89857	exon1			CGGCAAGCACCAC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.268C>T	3.37:g.183273174G>A	ENSP00000341342:p.Leu90Phe	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	152	66	0.434211	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901455	0.92035	.	.	ENSG00000172578	ENST00000341319	D	0.89681	-2.55	5.56	5.56	0.83823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98014	1.0367	10	0.87932	D	0	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	90	Q8WZ60	KLHL6_HUMAN	F	90	ENSP00000341342:L90F	ENSP00000341342:L90F	L	-	1	0	KLHL6	184755868	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.900000	0.87376	2.608000	0.88229	0.655000	0.94253	CTT	.	.	none		0.507	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		A	183273174	G	A	183273174	3	1	19	1	0	0	0	0	1	0	0	0	8393	971	34	2	1625	2	KLHL6	3	183273174	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	32356670	183273174	14749256	17	4655										
GPR125	166647	hgsc.bcm.edu	37	chr4	22446632	22446632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ctgcttcacgcctgtgactgGttgggcctgcagtgacttag	13	11	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr4:22446632G>T	ENST00000334304.5	-	6	939	c.670C>A	c.(670-672)Cca>Aca	p.P224T	GPR125_ENST00000502482.1_Missense_Mutation_p.P224T|GPR125_ENST00000508133.1_5'Flank|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	224	LRRCT.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTGTGACTGGTTGGGCCTGC	0.463																																					p.P224T		Atlas-SNP	.											GPR125,NS,carcinoma,+2,1	GPR125	118	1	0			c.C670A						PASS	.						130	114	119					4																	22446632		2203	4300	6503	SO:0001583	missense	166647	exon6			TGACTGGTTGGGC	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.670C>A	4.37:g.22446632G>T	ENSP00000334952:p.Pro224Thr	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	142	28	0.197183	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336957	0.41398	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	T;T	0.57273	0.56;0.41	5.83	5.83	0.93111	Cysteine-rich flanking region, C-terminal (1);	0.107611	0.64402	D	0.000007	T	0.42607	0.1210	N	0.25485	0.75	0.48288	D	0.999629	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12837	0.005;0.008;0.002	T	0.18903	-1.0322	10	0.42905	T	0.14	-3.1626	15.7745	0.78204	0.0:0.0:0.8556:0.1444	.	99;224;224	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	T	224	ENSP00000334952:P224T;ENSP00000421006:P224T	ENSP00000334952:P224T	P	-	1	0	GPR125	22055730	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.556000	0.53734	2.763000	0.94921	0.585000	0.79938	CCA	.	.	none		0.463	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			T	22446632	G	T	22446632	3	4	19	1	0	0	0	0	1	0	0	0	6639	1261	44	4	3351	4	GPR125	4	22446632	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		22446632	168707644	18	4656										
UGT2B7	7364	hgsc.bcm.edu	37	chr4	69978319	69978319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gcagcccacgacctcacctgGttccagtaccactctttgga	8	16	2	0			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr4:69978319G>A	ENST00000305231.7	+	6	1501	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	485					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACCTCACCTGGTTCCAGTACC	0.483																																					p.W485X		Atlas-SNP	.											.	UGT2B7	79	.	0			c.G1455A						PASS	.						177	167	170					4																	69978319		2203	4300	6503	SO:0001587	stop_gained	7364	exon6			CACCTGGTTCCAG	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1455G>A	4.37:g.69978319G>A	ENSP00000304811:p.Trp485*	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	112	35	0.3125	NM_001074	B2R810|Q6GTW0	Nonsense_Mutation	SNP	ENST00000305231.7	37	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407084	0.42715	.	.	ENSG00000171234	ENST00000305231	.	.	.	2.13	2.13	0.27403	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.956	0.41666	0.0:0.0:1.0:0.0	.	.	.	.	X	485	.	.	W	+	3	0	UGT2B7	70012908	1.000000	0.71417	0.982000	0.44146	0.254000	0.26022	8.547000	0.90665	1.192000	0.43071	0.306000	0.20318	TGG	.	.	none		0.483	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		A	69978319	G	A	69978319	4	1	19	1	0	0	0	0	0	1	0	0	16959	1270	44	2	1477	2	UGT2B7	4	69978319	Nonsense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	47531687	69978319	121175957	19	4657										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79176419	79176419	+	Frame_Shift_Del	DEL	G	G	-													0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cctgttcctatgaaggccatGtgtttcaggatggggaggac							TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr4:79176419delG	ENST00000325942.6	+	6	933	c.493delG	c.(493-495)gtgfs	p.V165fs	FRAS1_ENST00000264899.6_Frame_Shift_Del_p.V165fs|FRAS1_ENST00000264895.6_Frame_Shift_Del_p.V165fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	165	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						TGAAGGCCATGTGTTTCAGGA	0.537																																					p.H164fs		Atlas-Indel	.											.	FRAS1	779	.	0			c.492delT						PASS	.						54	55	55					4																	79176419		1937	4123	6060	SO:0001589	frameshift_variant	80144	exon6			.	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.493delG	4.37:g.79176419delG	ENSP00000326330:p.Val165fs	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	133	27	0.203008	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Del	DEL	ENST00000325942.6	37	CCDS54772.1																																																																																			.	.	none		0.537	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			-	79176419	G	-	79176419	7	5	19	1	0	1	0	1	0	0	0	0	6042	1377	48	0	515	0	FRAS1	4	79176419	Frame_Shift_Del	DEL	G	TCGA-FF-A7CW-01A-11D-A382-10	9198100	79176419	111977857	20	4658										
SLC9A3	6550	hgsc.bcm.edu	37	chr5	480029	480029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cggtctcgagacttctgggcCgaccgtctcatgaggaccct	12	14	3	2	rs147340203	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr5:480029C>T	ENST00000264938.3	-	10	1578	c.1569G>A	c.(1567-1569)tcG>tcA	p.S523S	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S514S|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	523					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTTCTGGGCCGACCGTCTCA	0.592													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.0				p.S523S		Atlas-SNP	.											.	SLC9A3	89	.	0			c.G1569A						PASS	.	C		2,4404	4.2+/-10.8	0,2,2201	117	114	115		1569	-9.9	0	5	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		523/835	480029	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6550	exon10			CTGGGCCGACCGT		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1569G>A	5.37:g.480029C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	35	7	0.2	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			C|1.000;T|0.000	0.000	strong		0.592	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	480029	C	T	480029	2	4	19	1	0	0	0	0	0	0	0	1	14713	639	23	1		1	SLC9A3	5	480029	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		480029	180435231	21	4659										
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	41054902	41054902	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tcacccatgacgattttgacTgttctttctattgaaatgat	6	8	3	4			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr5:41054902T>G	ENST00000399564.4	-	11	1524	c.1074A>C	c.(1072-1074)acA>acC	p.T358T	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	358																	CGATTTTGACTGTTCTTTCTA	0.368																																					p.T358T		Atlas-SNP	.											.	.	.	.	0			c.A1074C						PASS	.						147	138	141					5																	41054902		1834	4081	5915	SO:0001819	synonymous_variant	133558	exon11			TTTGACTGTTCTT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1074A>C	5.37:g.41054902T>G		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	154	44	0.285714	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																			.	.	none		0.368	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41054902	T	G	41054902	2	3	19	1	0	0	0	0	0	0	0	1	7035	1567	55	5		5	HEATR7B2	5	41054902	Silent	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	40574873	41054902	139860358	22	4660										
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17608511	17608511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgctgttttttcagcataatCgaacagcttatgacattgta	7	7	1	1	rs200041366		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr6:17608511C>T	ENST00000259963.3	+	5	1238	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	395	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAGCATAATCGAACAGCTTA	0.383																																					p.R395X		Atlas-SNP	.											FAM8A1,lower_third,carcinoma,-1,1	FAM8A1	26	1	0			c.C1183T						scavenged	.						109	104	106					6																	17608511		2203	4300	6503	SO:0001587	stop_gained	51439	exon5			CATAATCGAACAG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1183C>T	6.37:g.17608511C>T	ENSP00000259963:p.Arg395*	Somatic	132	2	0.0151515		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_016255	B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927702	0.97110	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0172	8.5079	0.33199	0.2528:0.6721:0.0:0.0751	.	.	.	.	X	145;395	.	ENSP00000259963:R395X	R	+	1	2	FAM8A1	17716490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.235000	0.51328	1.373000	0.46208	0.557000	0.71058	CGA	.	.	weak		0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			T	17608511	C	T	17608511	4	4	19	1	0	0	0	0	0	1	0	0	5649	876	31	1	1201	1	FAM8A1	6	17608511	Nonsense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		17608511	153506556	23	4661										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26157030	26157030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cagcaggagcggcgaagaagCccaagaaggcgacgggggcg	19	10	0	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr6:26157030C>T	ENST00000304218.3	+	1	472	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	138					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCGAAGAAGCCCAAGAAGGC	0.607																																					p.P138S		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.C412T						PASS	.						13	20	18					6																	26157030		2197	4290	6487	SO:0001583	missense	3008	exon1			AAGAAGCCCAAGA	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.412C>T	6.37:g.26157030C>T	ENSP00000307705:p.Pro138Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	72	16	0.222222	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	3.287	-0.145748	0.06627	.	.	ENSG00000168298	ENST00000304218	T	0.27890	1.64	5.51	2.29	0.28610	.	0.547850	0.18939	N	0.126986	T	0.07863	0.0197	L	0.34521	1.04	0.50039	D	0.999848	B	0.06786	0.001	B	0.04013	0.001	T	0.18524	-1.0334	10	0.11182	T	0.66	-0.7372	10.3673	0.44033	0.0:0.6:0.3296:0.0704	.	138	P10412	H14_HUMAN	S	138	ENSP00000307705:P138S	ENSP00000307705:P138S	P	+	1	0	HIST1H1E	26265009	0.597000	0.26874	0.998000	0.56505	0.708000	0.40852	0.204000	0.17335	0.191000	0.20236	0.561000	0.74099	CCC	.	.	none		0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		T	26157030	C	T	26157030	3	4	19	1	0	0	0	0	1	0	0	0	7126	739	26	2	414	2	HIST1H1E	6	26157030	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	8548519	26157030	144958037	24	4662										
MUC21	394263	hgsc.bcm.edu	37	chr6	30955191	30955191	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aactctgagtccagcacagtGtccagtggggccagcactgc	12	13	1	1	rs56644482		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr6:30955191G>C	ENST00000376296.3	+	2	1480	c.1239G>C	c.(1237-1239)gtG>gtC	p.V413V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	413	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGCACAGTGTCCAGTGGGG	0.627																																					p.V413V		Atlas-SNP	.											MUC21,NS,carcinoma,0,2	MUC21	98	2	0			c.G1239C						scavenged	.						145	140	142					6																	30955191		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CACAGTGTCCAGT	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1239G>C	6.37:g.30955191G>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	48	3	0.0625	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																			.	.	none		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30955191	G	C	30955191	2	2	19	1	0	0	0	0	0	0	0	1	9977	1364	48	4		4	MUC21	6	30955191	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	4798161	30955191	140159876	25	4663										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgctgcctggatagaaaccaTtcacagagcagaccaggagg	12	10	1	3	rs114293611	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914				p.N149S		Atlas-SNP	.											HLA-DRB5,NS,lymphoid_neoplasm,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A446G						scavenged	.	T	SER/ASN	1237,2619		353,531,1044	42	53	49		446	-9.4	0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127	exon3			AAACCATTCACAG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser	Somatic	79	12	0.151899		WXS	Illumina HiSeq	Phase_I	84	12	0.142857	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT	T|0.525;C|0.475	0.475	strong		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487353	T	C	32487353	3	2	19	1	0	0	0	0	1	0	0	0	7209	1493	52	2	370	2	HLA-DRB5	6	32487353	Missense_Mutation	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	1532162	32487353	138627714	26	4664										
TTK	7272	hgsc.bcm.edu	37	chr6	80751906	80751906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	caagacttttgaaaaaaaaaGgggaaaaaaatgatttgcag	9	3	0	3	rs539988632		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr6:80751906G>A	ENST00000369798.2	+	22	2672	c.2561G>A	c.(2560-2562)aGg>aAg	p.R854K	TTK_ENST00000509894.1_Missense_Mutation_p.R853K|TTK_ENST00000230510.3_Missense_Mutation_p.R853K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	854					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAAAAAAAGGGGAAAAAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		15015	0.0		0.001	False		,,,				2504	0.0				p.R854K		Atlas-SNP	.											TTK_ENST00000369798,NS,carcinoma,+1,7	TTK	199	7	1	Substitution - Missense(1)	ovary(1)	c.G2561A						scavenged	.						48	51	50					6																	80751906		2203	4286	6489	SO:0001583	missense	7272	exon22			AAAAAAGGGGAAA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2561G>A	6.37:g.80751906G>A	ENSP00000358813:p.Arg854Lys	Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	166	4	0.0240964	NM_003318	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513029	0.00975	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65732	-0.17;-0.17;-0.17	5.6	4.71	0.59529	.	0.346876	0.32134	N	0.006539	T	0.26484	0.0647	L	0.36672	1.1	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.17722	0.019;0.019	T	0.22103	-1.0226	10	0.05721	T	0.95	.	14.7704	0.69671	0.0:0.0:0.8545:0.1455	.	854;853	P33981;A8K8U5	TTK_HUMAN;.	K	853;853;854	ENSP00000422936:R853K;ENSP00000230510:R853K;ENSP00000358813:R854K	ENSP00000230510:R853K	R	+	2	0	TTK	80808625	0.994000	0.37717	0.003000	0.11579	0.004000	0.04260	2.330000	0.43885	1.339000	0.45563	0.561000	0.74099	AGG	.	.	none		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80751906	G	A	80751906	3	1	19	1	0	0	0	0	1	0	0	0	16717	1000	35	2	2643	2	TTK	6	80751906	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	48264553	80751906	90363161	27	4665										
CARD11	84433	hgsc.bcm.edu	37	chr7	2977662	2977662	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ccaggtcctccttctcctccAggtactgtgaaccacacaga	7	16	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr7:2977662A>T	ENST00000396946.4	-	8	1425	c.1022T>A	c.(1021-1023)cTg>cAg	p.L341Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	341					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTCTCCTCCAGGTACTGTGA	0.542			Mis		DLBCL																																p.L341Q		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11	339	.	0			c.T1022A						PASS	.						146	128	134					7																	2977662		2203	4300	6503	SO:0001583	missense	84433	exon8			TCCTCCAGGTACT	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1022T>A	7.37:g.2977662A>T	ENSP00000380150:p.Leu341Gln	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	62	14	0.225806	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450208	0.43531	.	.	ENSG00000198286	ENST00000396946	T	0.38401	1.14	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000006	T	0.51415	0.1673	L	0.52905	1.665	0.53005	D	0.99996	D	0.76494	0.999	D	0.75020	0.985	T	0.53662	-0.8407	10	0.72032	D	0.01	-21.9678	9.3257	0.37990	0.8401:0.0:0.0:0.1599	.	341	Q9BXL7	CAR11_HUMAN	Q	341	ENSP00000380150:L341Q	ENSP00000380150:L341Q	L	-	2	0	CARD11	2944188	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.059000	0.76684	1.878000	0.54408	0.482000	0.46254	CTG	.	.	none		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		T	2977662	A	T	2977662	3	4	19	1	0	0	0	0	1	0	0	0	2645	188	7	5	2514	5	CARD11	7	2977662	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10		2977662	156161001	28	4666										
MAGI2	9863	hgsc.bcm.edu	37	chr7	79082348	79082348	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gctctcaccttgcttgacacActtgagccggagggggtcct	12	13	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr7:79082348A>T	ENST00000354212.4	-	1	542	c.289T>A	c.(289-291)Tgt>Agt	p.C97S	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.C97S|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.C97S|MAGI2-AS3_ENST00000451809.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	97	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCTTGACACACTTGAGCCGG	0.647																																					p.C97S		Atlas-SNP	.											.	MAGI2	246	.	0			c.T289A						PASS	.						45	48	47					7																	79082348		2203	4300	6503	SO:0001583	missense	9863	exon1			TGACACACTTGAG	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.289T>A	7.37:g.79082348A>T	ENSP00000346151:p.Cys97Ser	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.720746	0.68959	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10005	3.03;3.03;2.92	5.39	5.39	0.77823	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.15435	0.0372	L	0.50919	1.6	0.80722	D	1	P;P	0.49358	0.923;0.454	P;B	0.48454	0.578;0.192	T	0.01739	-1.1284	9	0.35671	T	0.21	.	10.6966	0.45903	0.8401:0.1599:0.0:0.0	.	97;97	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	S	97	ENSP00000405766:C97S;ENSP00000346151:C97S;ENSP00000428389:C97S	ENSP00000346151:C97S	C	-	1	0	MAGI2	78920284	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.133000	0.77259	2.033000	0.60031	0.402000	0.26972	TGT	.	.	none		0.647	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	79082348	A	T	79082348	3	4	19	1	0	0	0	0	1	0	0	0	9191	159	6	5	4166	5	MAGI2	7	79082348	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10	76104686	79082348	80056315	29	4667										
CLCN1	1180	hgsc.bcm.edu	37	chr7	143049009	143049009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggccgacatcttgcagggccCcagcctgcgatccacagacg	12	16	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr7:143049009C>T	ENST00000343257.2	+	23	3005	c.2918C>T	c.(2917-2919)cCc>cTc	p.P973L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	973					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCAGGGCCCCAGCCTGCGA	0.632																																					p.P973L		Atlas-SNP	.											.	CLCN1	141	.	0			c.C2918T						PASS	.						76	77	77					7																	143049009		2203	4300	6503	SO:0001583	missense	1180	exon23			AGGGCCCCAGCCT	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2918C>T	7.37:g.143049009C>T	ENSP00000339867:p.Pro973Leu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	102	16	0.156863	NM_000083	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392032	0.62066	.	.	ENSG00000188037	ENST00000343257	D	0.85088	-1.94	4.49	4.49	0.54785	.	0.191462	0.34002	N	0.004352	D	0.89008	0.6593	M	0.62723	1.935	0.43065	D	0.994695	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88115	0.2828	10	0.46703	T	0.11	.	7.2092	0.25925	0.0:0.8406:0.0:0.1594	.	172;973	Q75L28;P35523	.;CLCN1_HUMAN	L	973	ENSP00000339867:P973L	ENSP00000339867:P973L	P	+	2	0	CLCN1	142759131	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.063000	0.41423	2.202000	0.70862	0.561000	0.74099	CCC	.	.	none		0.632	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		T	143049009	C	T	143049009	3	4	19	1	0	0	0	0	1	0	0	0	3462	623	22	2	3008	2	CLCN1	7	143049009	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	63966661	143049009	16089654	30	4668										
OR2F2	135948	hgsc.bcm.edu	37	chr7	143633276	143633276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ttaacatccaagctgggaacTtgactcatgaacattacttt	6	9	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr7:143633276T>C	ENST00000408955.2	+	1	1018	c.951T>C	c.(949-951)acT>acC	p.T317T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGCTGGGAACTTGACTCATGA	0.433																																					p.T317T		Atlas-SNP	.											.	OR2F2	63	.	0			c.T951C						PASS	.						32	31	31					7																	143633276		1968	4195	6163	SO:0001819	synonymous_variant	135948	exon1			GGGAACTTGACTC		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.951T>C	7.37:g.143633276T>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	56	4	0.0714286	NM_001004685	A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	CCDS43666.1																																																																																			.	.	none		0.433	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			C	143633276	T	C	143633276	2	2	19	1	0	0	0	0	0	0	0	1	10997	1596	56	3		3	OR2F2	7	143633276	Silent	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	584267	143633276	15505387	31	4669										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		Atlas-SNP	.											PABPC1,NS,carcinoma,0,2	PABPC1	76	2	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						scavenged	.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	404	0	0		WXS	Illumina HiSeq	Phase_I	336	4	0.0119048	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.	.	weak		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	19	1	0	0	0	0	1	0	0	0	11363	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		101724606	44639416	32	4670										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121282320	121282320	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gtatttatggtggatggatcCtggagcattggagatgaaaa	14	3	0	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr8:121282320C>A	ENST00000297848.3	+	26	3390	c.3120C>A	c.(3118-3120)tcC>tcA	p.S1040S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S945S|COL14A1_ENST00000309791.4_Silent_p.S1040S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGATGGATCCTGGAGCATTG	0.428																																					p.S1040S		Atlas-SNP	.											COL14A1,NS,carcinoma,+1,1	COL14A1	292	1	0			c.C3120A						PASS	.						135	123	127					8																	121282320		2203	4299	6502	SO:0001819	synonymous_variant	7373	exon26			TGGATCCTGGAGC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3120C>A	8.37:g.121282320C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	65	16	0.246154	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																			.	.	none		0.428	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121282320	C	A	121282320	2	1	19	1	0	0	0	0	0	0	0	1	3671	668	24	4		4	COL14A1	8	121282320	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	19557714	121282320	25081702	33	4671										
ATAD2	29028	hgsc.bcm.edu	37	chr8	124382182	124382182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tcatcatcatcatcatcatcAtcgtcatcatcatcatcatc	1	14	12	0	rs139406007	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr8:124382182A>G	ENST00000287394.5	-	7	917	c.810T>C	c.(808-810)gaT>gaC	p.D270D	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	270	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcatcgtcatcat	0.368													a|||	137	0.0273562	0.084	0.0216	5008	,	,		18741	0.001		0.005	False		,,,				2504	0.0051				p.D270D		Atlas-SNP	.											ATAD2,caecum,carcinoma,0,1	ATAD2	160	1	0			c.T810C						scavenged	.	G		202,4202	113.3+/-151.4	1,200,2001	248	189	209		810	-2.2	0	8	dbSNP_134	209	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ATAD2	NM_014109.3		1,202,6299	GG,GA,AA		0.0233,4.5867,1.5687		270/1391	124382182	204,12800	2202	4300	6502	SO:0001819	synonymous_variant	29028	exon7			ATCATCATCGTCA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.810T>C	8.37:g.124382182A>G		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	152	3	0.0197368	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	CCDS6343.1																																																																																			A|0.986;G|0.014	0.014	strong		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		G	124382182	A	G	124382182	2	3	19	1	0	0	0	0	0	0	0	1	1071	214	8	2		2	ATAD2	8	124382182	Silent	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10	3099862	124382182	21981840	34	4672										
CBWD6	644019	hgsc.bcm.edu	37	chr9	69247582	69247582	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aaacatagaagccactgcacGtgaaaatatataatattcat	5	7	1	2	rs201502273		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr9:69247582G>C	ENST00000377457.5	-	5	536		c.e5-1		CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Splice_Site	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						GCCACTGCACGTGAAAATATA	0.289																																					.		Atlas-SNP	.											CBWD6,NS,neuroblastoma,0,1	CBWD6	19	1	0			c.431-1C>G						scavenged	.						19	13	15					9																	69247582		1960	3639	5599	SO:0001630	splice_region_variant	644019	exon6			CTGCACGTGAAAA		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.431-1C>G	9.37:g.69247582G>C		Somatic	187	2	0.0106952		WXS	Illumina HiSeq	Phase_I	225	7	0.0311111	NM_001085457		Splice_Site	SNP	ENST00000377457.5	37	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	g	8.385	0.838326	0.16891	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.326	0.37993	0.0:0.7769:0.2231:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD6	68537402	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	5.187000	0.65087	0.454000	0.26884	-1.123000	0.02005	.	G|0.500;C|0.500	0.500	weak		0.289	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822	Intron	C	69247582	G	C	69247582	5	2	19	1	0	0	0	0	0	0	1	0	2716	1159	40	4	801	4	CBWD6	9	69247582	Splice_Site	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		69247582	71965849	35	4673										
ABCA1	19	hgsc.bcm.edu	37	chr9	107571802	107571802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gccagggtctttggtgagggCgtttaagagttccagggttc	16	7	1	2	rs189206655		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr9:107571802C>T	ENST00000374736.3	-	30	4613	c.4219G>A	c.(4219-4221)Gcc>Acc	p.A1407T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1407			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.A1407T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTGGTGAGGGCGTTTAAGAGT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14853	0.0		0.0	False		,,,				2504	0.0				p.A1407T		Atlas-SNP	.											ABCA1,caecum,carcinoma,0,4	ABCA1	244	4	1	Substitution - Missense(1)	large_intestine(1)	c.G4219A						scavenged	.						110	106	107					9																	107571802		2203	4300	6503	SO:0001583	missense	19	exon30			TGAGGGCGTTTAA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4219G>A	9.37:g.107571802C>T	ENSP00000363868:p.Ala1407Thr	Somatic	169	1	0.00591716		WXS	Illumina HiSeq	Phase_I	136	22	0.161765	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.47	3.630940	0.67015	.	.	ENSG00000165029	ENST00000374736	D	0.95949	-3.86	5.68	5.68	0.88126	.	0.046614	0.85682	D	0.000000	D	0.93979	0.8072	L	0.49699	1.58	0.80722	D	1	B	0.24186	0.099	B	0.30716	0.119	D	0.90832	0.4717	10	0.18276	T	0.48	.	19.8476	0.96716	0.0:1.0:0.0:0.0	.	1407	O95477	ABCA1_HUMAN	T	1407	ENSP00000363868:A1407T	ENSP00000363868:A1407T	A	-	1	0	ABCA1	106611623	0.995000	0.38212	0.947000	0.38551	0.336000	0.28762	3.225000	0.51246	2.704000	0.92352	0.650000	0.86243	GCC	C|1.000;T|0.000	0.000	strong		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107571802	C	T	107571802	3	4	19	1	0	0	0	0	1	0	0	0	28	768	27	1	2650	1	ABCA1	9	107571802	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	38324220	107571802	33641629	36	4674										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27703150	27703150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ttgggcttctgctccggcccCggcctgggcttgggctccac	14	16	1	0	rs369428695		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr10:27703150C>T	ENST00000438700.3	-	1	147	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	10					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTCCGGCCCCGGCCTGGGCT	0.622																																					p.P10P		Atlas-SNP	.											.	PTCHD3	140	.	0			c.G30A						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	42	51	48		30	-0.9	0	10		48	0,8598		0,0,4299	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		10/768	27703150	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	374308	exon1			CGGCCCCGGCCTG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.30G>A	10.37:g.27703150C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	55	18	0.327273	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																			.	.	none		0.622	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27703150	C	T	27703150	2	4	19	1	0	0	0	0	0	0	0	1	12734	639	23	1		1	PTCHD3	10	27703150	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		27703150	107831597	37	4675										
MPP7	143098	hgsc.bcm.edu	37	chr10	28420542	28420542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ttttactgagtcttcctcatCgtcaatatcttcaggcatag	6	10	5	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr10:28420542C>T	ENST00000375732.1	-	6	653	c.394G>A	c.(394-396)Gat>Aat	p.D132N	MPP7_ENST00000375719.3_Missense_Mutation_p.D132N|MPP7_ENST00000337532.5_Missense_Mutation_p.D132N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.D7N|MPP7_ENST00000540098.1_Missense_Mutation_p.D132N			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	132					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTTCCTCATCGTCAATATCT	0.413																																					p.D132N		Atlas-SNP	.											.	MPP7	60	.	0			c.G394A						PASS	.						132	119	123					10																	28420542		2203	4300	6503	SO:0001583	missense	143098	exon8			CCTCATCGTCAAT	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.394G>A	10.37:g.28420542C>T	ENSP00000364884:p.Asp132Asn	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	24	0.247423	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939983	0.73557	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.23147	2.72;2.72;2.72;2.72;1.92	5.74	4.84	0.62591	PDZ/DHR/GLGF (1);	0.221823	0.52532	N	0.000062	T	0.22513	0.0543	L	0.39633	1.23	0.80722	D	1	B	0.23854	0.092	B	0.18871	0.023	T	0.02404	-1.1164	10	0.33141	T	0.24	.	14.4397	0.67306	0.0:0.9287:0.0:0.0713	.	132	Q5T2T1	MPP7_HUMAN	N	132;132;132;132;7	ENSP00000364884:D132N;ENSP00000337907:D132N;ENSP00000438693:D132N;ENSP00000364871:D132N;ENSP00000405397:D7N	ENSP00000337907:D132N	D	-	1	0	MPP7	28460548	1.000000	0.71417	0.883000	0.34634	0.991000	0.79684	4.814000	0.62627	1.442000	0.47568	0.561000	0.74099	GAT	.	.	none		0.413	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		T	28420542	C	T	28420542	3	4	19	1	0	0	0	0	1	0	0	0	9739	884	31	1	1384	1	MPP7	10	28420542	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	717392	28420542	107114205	38	4676										
PRKG1	5592	hgsc.bcm.edu	37	chr10	54048530	54048530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tatgaaaacctataacatcaTattgagggggattgacatga	9	5	1	4			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr10:54048530T>C	ENST00000401604.2	+	15	1903	c.1709T>C	c.(1708-1710)aTa>aCa	p.I570T	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.I288T|PRKG1_ENST00000373985.1_Missense_Mutation_p.I558T|PRKG1_ENST00000373980.4_Missense_Mutation_p.I585T|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	570	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TATAACATCATATTGAGGGGG	0.348																																					p.I585T		Atlas-SNP	.											.	PRKG1	167	.	0			c.T1754C						PASS	.						100	103	102					10																	54048530		2203	4300	6503	SO:0001583	missense	5592	exon15			ACATCATATTGAG		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1709T>C	10.37:g.54048530T>C	ENSP00000384200:p.Ile570Thr	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	136	33	0.242647	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377284	0.82682	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.11821	2.74;2.74;2.74	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.85299	2.745	0.80722	D	1	P;D;D	0.56521	0.806;0.97;0.976	P;P;P	0.57283	0.702;0.721;0.817	T	0.37572	-0.9700	10	0.66056	D	0.02	-16.6233	14.8289	0.70132	0.0:0.0:0.0:1.0	.	288;585;570	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	T	570;558;585;288;182	ENSP00000384200:I570T;ENSP00000363097:I558T;ENSP00000363092:I585T	ENSP00000327642:I288T	I	+	2	0	PRKG1	53718536	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	8.040000	0.89188	1.978000	0.57642	0.533000	0.62120	ATA	.	.	none		0.348	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	54048530	T	C	54048530	3	2	19	1	0	0	0	0	1	0	0	0	12522	1406	49	2	2082	2	PRKG1	10	54048530	Missense_Mutation	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	25627988	54048530	81486217	39	4677										
TLL2	7093	hgsc.bcm.edu	37	chr10	98157024	98157024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gagccggctgtccgtggagaCgaggggctccgggatcttat	17	10	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr10:98157024C>T	ENST00000357947.3	-	11	1528	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	435	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCGTGGAGACGAGGGGCTCC	0.577																																					p.V435I		Atlas-SNP	.											.	TLL2	122	.	0			c.G1303A						PASS	.						58	52	54					10																	98157024		2203	4300	6503	SO:0001583	missense	7093	exon11			TGGAGACGAGGGG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1303G>A	10.37:g.98157024C>T	ENSP00000350630:p.Val435Ile	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	46	14	0.304348	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.810936	0.02798	.	.	ENSG00000095587	ENST00000357947	T	0.34472	1.36	5.11	-8.58	0.00897	CUB (5);	1.421770	0.05282	N	0.519613	T	0.12774	0.0310	N	0.13168	0.305	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25813	-1.0121	10	0.02654	T	1	.	2.9319	0.05802	0.0942:0.1609:0.3118:0.433	.	435	Q9Y6L7	TLL2_HUMAN	I	435	ENSP00000350630:V435I	ENSP00000350630:V435I	V	-	1	0	TLL2	98147014	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.251000	0.08818	-1.951000	0.01029	-1.275000	0.01399	GTC	.	.	none		0.577	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			T	98157024	C	T	98157024	3	4	19	1	0	0	0	0	1	0	0	0	15943	536	19	1	1788	1	TLL2	10	98157024	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	44108494	98157024	37377723	40	4678										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906253	129906253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	atggcattagattcctgcacGctaagagttctccctctaca	7	12	2	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr10:129906253G>T	ENST00000368654.3	-	13	4226	c.3851C>A	c.(3850-3852)gCg>gAg	p.A1284E	MKI67_ENST00000368653.3_Missense_Mutation_p.A924E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1284	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTCCTGCACGCTAAGAGTTC	0.493																																					p.A1284E		Atlas-SNP	.											MKI67,rectum,carcinoma,+1,2	MKI67	363	2	0			c.C3851A						scavenged	.						260	245	250					10																	129906253		2203	4300	6503	SO:0001583	missense	4288	exon13			CTGCACGCTAAGA	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3851C>A	10.37:g.129906253G>T	ENSP00000357643:p.Ala1284Glu	Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	265	3	0.0113208	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.790945	0.16258	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02787	4.16;4.16	2.12	1.15	0.20763	.	0.885835	0.09189	N	0.836254	T	0.07413	0.0187	L	0.61218	1.895	0.09310	N	1	D;D;D	0.76494	0.99;0.988;0.999	P;P;D	0.67900	0.843;0.763;0.954	T	0.20140	-1.0284	10	0.02654	T	1	.	5.0774	0.14638	0.1828:0.0:0.8172:0.0	.	1283;924;1284	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1284;924;1283	ENSP00000357643:A1284E;ENSP00000357642:A924E	ENSP00000357642:A924E	A	-	2	0	MKI67	129796243	.	.	0.000000	0.03702	0.002000	0.02628	.	.	0.415000	0.25817	0.462000	0.41574	GCG	.	.	none		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129906253	G	T	129906253	3	4	19	1	0	0	0	0	1	0	0	0	9598	1087	38	4	5931	4	MKI67	10	129906253	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	31749229	129906253	5628494	41	4679										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	571	68	0.119089		WXS	Illumina HiSeq	Phase_I	413	47	0.113801	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	19	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		1017068	133989448	42	4680										
C11orf40	143501	hgsc.bcm.edu	37	chr11	4592706	4592707	+	Frame_Shift_Ins	INS	-	-	AC													0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgaagtagaacacgatccatINSacagtttttccctgcaaaga					rs80310454|rs67702097|rs141600462	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:4592706_4592707insAC	ENST00000307616.1	-	4	599_600	c.600_601insGT	c.(598-603)tgtatgfs	p.M201fs		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	201										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acacgatccatacagtttttcc	0.426																																					p.M201fs		Pindel	.											.	C11orf40	37	.	0			c.601_602insGT						PASS	.			2670,1456		925,820,318						-0.7	0		dbSNP_130	78	4274,3706		1320,1634,1036	no	frameshift	C11orf40	NM_144663.1		2245,2454,1354	A1A1,A1R,RR		46.4411,35.2884,42.64				6944,5162				SO:0001589	frameshift_variant	143501	exon4			.		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.599_600dupGT	11.37:g.4592707_4592708dupAC	ENSP00000302918:p.Met201fs	Somatic	113	.	.		WXS	Illumina HiSeq	Phase_I	91	29	0.319	NM_144663		Frame_Shift_Ins	INS	ENST00000307616.1	37	CCDS31354.1																																																																																			-|0.377;AC|0.623	0.623	strong		0.426	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		AC	4592707	-	AC	4592706	7	5	19	1	0	1	1	0	0	0	0	0	1639	1406	49	0	55	0	C11orf40	11	4592706	Frame_Shift_Ins	INS	-	TCGA-FF-A7CW-01A-11D-A382-10	3575638	4592706	130413810	43	4681										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	14	5	1	4	rs200778682	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																					p.I111T		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,4	TRIM48	149	4	0			c.T332C						scavenged	.						98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097	exon2			GTGGCATTCACAG	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr	Somatic	621	9	0.0144928		WXS	Illumina HiSeq	Phase_I	499	12	0.0240481	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT	T|0.996;C|0.004	0.004	strong		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	19	1	0	0	0	0	1	0	0	0	16520	1493	52	2	338	2	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	50439957	55032663	79973853	44	4682										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57970967	57970967	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ctgatgatgcagacataggaGaagaagatgagtacaaaggg	14	4	0	7	rs138762515		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:57970967G>A	ENST00000302592.6	-	1	686	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F229F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGACATAGGAGAAGAAGATGA	0.438																																					p.F229F		Atlas-SNP	.											OR1S2,NS,carcinoma,0,2	OR1S2	119	2	1	Substitution - coding silent(1)	kidney(1)	c.C687T						scavenged	.						154	129	138					11																	57970967		2201	4296	6497	SO:0001819	synonymous_variant	219958	exon1			ATAGGAGAAGAAG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.687C>T	11.37:g.57970967G>A		Somatic	108	9	0.0833333		WXS	Illumina HiSeq	Phase_I	76	11	0.144737	NM_001004459	Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	CCDS31545.1																																																																																			G|0.999;A|0.001	0.001	weak		0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970967	G	A	57970967	2	1	19	1	0	0	0	0	0	0	0	1	10973	933	33	2		2	OR1S2	11	57970967	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	2938304	57970967	77035549	45	4683										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	223	4	0.0179372		WXS	Illumina HiSeq	Phase_I	184	12	0.0652174	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	19	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	236	57971203	77035313	46	4684										
C11orf84	144097	hgsc.bcm.edu	37	chr11	63585573	63585573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gggtggccctcttgcaagacGtgagagctgagcagccgtcc	15	12	1	3	rs373118347		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr11:63585573G>A	ENST00000294244.4	+	2	723	c.424G>A	c.(424-426)Gtg>Atg	p.V142M		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	142										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTTGCAAGACGTGAGAGCTGA	0.587																																					p.V142M		Atlas-SNP	.											.	C11orf84	33	.	0			c.G424A						PASS	.	G	MET/VAL	3,4399	6.2+/-15.9	0,3,2198	69	72	71		424	-6.3	0	11		71	0,8596		0,0,4298	no	missense	C11orf84	NM_138471.1	21	0,3,6496	AA,AG,GG		0.0,0.0682,0.0231	benign	142/382	63585573	3,12995	2201	4298	6499	SO:0001583	missense	144097	exon2			CAAGACGTGAGAG	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.424G>A	11.37:g.63585573G>A	ENSP00000294244:p.Val142Met	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	43	11	0.255814	NM_138471	Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175663	0.38413	6.82E-4	0.0	ENSG00000168005	ENST00000294244	T	0.47177	0.85	5.38	-6.3	0.02007	.	1.609270	0.03598	N	0.232943	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	P	0.46656	0.882	B	0.33690	0.168	T	0.30268	-0.9984	10	0.87932	D	0	-6.9248	1.2292	0.01940	0.4312:0.105:0.1743:0.2896	.	142	Q9BUA3	CK084_HUMAN	M	142	ENSP00000294244:V142M	ENSP00000294244:V142M	V	+	1	0	C11orf84	63342149	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.225000	0.02956	-0.942000	0.03695	-0.254000	0.11334	GTG	.	.	weak		0.587	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		A	63585573	G	A	63585573	3	1	19	1	0	0	0	0	1	0	0	0	1667	1145	40	1	430	1	C11orf84	11	63585573	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	5614370	63585573	71420943	47	4685										
MLL2	8085	hgsc.bcm.edu	37	chr12	49435033	49435033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggccagtccaaaggggtcctGcgaaggcacttgggcgggca	17	11	0	0			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr12:49435033G>A	ENST00000301067.7	-	31	6519	c.6520C>T	c.(6520-6522)Cag>Tag	p.Q2174*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2174	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2174*(1)|p.Q1904*(1)									AAGGGGTCCTGCGAAGGCACT	0.706																																					p.Q2174X		Atlas-SNP	.											MLL2_ENST00000301067,NS,lymphoid_neoplasm,0,2	MLL2	1173	2	2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C6520T						PASS	.						6	9	8					12																	49435033		1816	3965	5781	SO:0001587	stop_gained	8085	exon31			GGTCCTGCGAAGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6520C>T	12.37:g.49435033G>A	ENSP00000301067:p.Gln2174*	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	29	10	0.344828	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	45	11.616333	0.99583	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.09	4.09	0.47781	.	0.000000	0.31381	N	0.007760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9318	0.79668	0.0:0.0:1.0:0.0	.	.	.	.	X	2174	.	ENSP00000301067:Q2174X	Q	-	1	0	MLL2	47721300	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.306000	0.43673	2.210000	0.71456	0.561000	0.74099	CAG	.	.	none		0.706	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49435033	G	A	49435033	4	1	19	1	0	0	0	0	0	1	0	0	9621	1328	46	2	10189	2	MLL2	12	49435033	Nonsense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		49435033	84416862	48	4686										
BRAP	8315	hgsc.bcm.edu	37	chr12	112103531	112103531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	attcacagactcgtccatgcGctccagacacaccgtgcact	7	16	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr12:112103531G>A	ENST00000327551.6	-	6	858	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	BRAP_ENST00000419234.4_Missense_Mutation_p.R270C|BRAP_ENST00000539060.1_Missense_Mutation_p.R91C			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TCGTCCATGCGCTCCAGACAC	0.557																																					p.R270C	Pancreas(146;846 1904 7830 25130 26065)	Atlas-SNP	.											.	BRAP	42	.	0			c.C808T						PASS	.						161	105	124					12																	112103531		2203	4300	6503	SO:0001583	missense	8315	exon6			CCATGCGCTCCAG	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.718C>T	12.37:g.112103531G>A	ENSP00000330813:p.Arg240Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	78	17	0.217949	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	G	19.21	3.783685	0.70222	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.43294	0.95;0.95;0.95	5.22	4.25	0.50352	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.57493	-0.7802	10	0.87932	D	0	-12.2466	14.8944	0.70633	0.0:0.0:0.8067:0.1933	.	91;270	B4DRM1;Q7Z569	.;BRAP_HUMAN	C	270;91;240;52	ENSP00000403524:R270C;ENSP00000441659:R91C;ENSP00000330813:R240C	ENSP00000330813:R240C	R	-	1	0	BRAP	110587914	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.515000	0.53429	2.431000	0.82371	0.305000	0.20034	CGC	.	.	none		0.557	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			A	112103531	G	A	112103531	3	1	19	1	0	0	0	0	1	0	0	0	1497	1087	38	1	998	1	BRAP	12	112103531	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	62668498	112103531	21748364	49	4687										
MLXIP	22877	hgsc.bcm.edu	37	chr12	122612486	122612486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgacacccctggacggctctGtggacgtagacgagcaccgc	13	14	1	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr12:122612486G>T	ENST00000319080.7	+	3	709	c.577G>T	c.(577-579)Gtg>Ttg	p.V193L						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGACGGCTCTGTGGACGTAGA	0.607																																					p.V193L	Esophageal Squamous(105;787 1493 16200 18566 52466)	Atlas-SNP	.											.	MLXIP	46	.	0			c.G577T						PASS	.						113	120	118					12																	122612486		2014	4189	6203	SO:0001583	missense	22877	exon3			GGCTCTGTGGACG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.577G>T	12.37:g.122612486G>T	ENSP00000312834:p.Val193Leu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	41	13	0.317073	NM_014938		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.334205	0.81801	.	.	ENSG00000175727	ENST00000319080	T	0.14766	2.48	5.53	5.53	0.82687	.	0.068042	0.64402	D	0.000013	T	0.27524	0.0676	.	.	.	0.80722	D	1	P	0.49961	0.93	P	0.49887	0.625	T	0.00697	-1.1605	9	0.59425	D	0.04	-19.7812	19.4566	0.94895	0.0:0.0:1.0:0.0	.	193	Q9HAP2	MLXIP_HUMAN	L	193	ENSP00000312834:V193L	ENSP00000312834:V193L	V	+	1	0	MLXIP	121178440	0.989000	0.36119	0.990000	0.47175	0.674000	0.39518	1.896000	0.39789	2.590000	0.87494	0.655000	0.94253	GTG	.	.	none		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		T	122612486	G	T	122612486	3	4	19	1	0	0	0	0	1	0	0	0	9636	1377	48	4	587	4	MLXIP	12	122612486	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	10508955	122612486	11239409	50	4688										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751301	19751301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gccttctcggctgagatgacCggggcgtaggtggccagggg	19	10	1	2	rs140548354		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAGATGACCGGGGCGTAGG	0.607																																					p.P274P		Atlas-SNP	.											TUBA3C,bladder,carcinoma,-2,1	TUBA3C	166	1	0			c.G822A						scavenged	.						123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GATGACCGGGGCG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.822G>A	13.37:g.19751301C>T		Somatic	133	5	0.037594		WXS	Illumina HiSeq	Phase_I	92	8	0.0869565	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			C|0.999;T|0.001	0.001	weak		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	19	1	0	0	0	0	0	0	0	1	16743	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		19751301	95418577	51	4689										
RNASEH2B	79621	hgsc.bcm.edu	37	chr13	51530597	51530597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggtaaaaaataaaaaaaaaaTtggaaaggtttgaaactttg	8	1	0	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr13:51530597T>A	ENST00000336617.3	+	11	1325	c.926T>A	c.(925-927)aTt>aAt	p.I309N	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	309					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAAAAAAAAATTGGAAAGGTT	0.313																																					p.I309N		Atlas-SNP	.											RNASEH2B,NS,carcinoma,0,2	RNASEH2B	26	2	0			c.T926A						scavenged	.						17	19	18					13																	51530597		2183	4279	6462	SO:0001583	missense	79621	exon11			AAAAAATTGGAAA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.926T>A	13.37:g.51530597T>A	ENSP00000337623:p.Ile309Asn	Somatic	338	3	0.00887574		WXS	Illumina HiSeq	Phase_I	302	8	0.0264901	NM_024570	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	CCDS9425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.784|8.784	0.928909|0.928909	0.18131|0.18131	.|.	.|.	ENSG00000136104|ENSG00000136104	ENST00000336617|ENST00000539292	D|.	0.96716|.	-4.1|.	5.24|5.24	-0.506|-0.506	0.11989|0.11989	.|.	.|2.449670	.|0.02044	.|N	.|0.049521	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.19778|0.19778	-1.0295|-1.0295	9|7	0.36615|0.54805	T|T	0.2|0.06	26.5704|26.5704	3.18|3.18	0.06581|0.06581	0.3209:0.1761:0.0:0.503|0.3209:0.1761:0.0:0.503	.|.	309|.	Q5TBB1|.	RNH2B_HUMAN|.	N|M	309|307	ENSP00000337623:I309N|.	ENSP00000337623:I309N|ENSP00000441268:L307M	I|L	+|+	2|1	0|2	RNASEH2B|RNASEH2B	50428598|50428598	0.732000|0.732000	0.28121|0.28121	0.256000|0.256000	0.24389|0.24389	0.447000|0.447000	0.32167|0.32167	0.200000|0.200000	0.17257|0.17257	0.011000|0.011000	0.14865|0.14865	-0.256000|-0.256000	0.11100|0.11100	ATT|TTG	.	.	none		0.313	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		A	51530597	T	A	51530597	3	1	19	1	0	0	0	0	1	0	0	0	13413	1493	52	5	968	5	RNASEH2B	13	51530597	Missense_Mutation	SNP	T	TCGA-FF-A7CW-01A-11D-A382-10	31779296	51530597	63639281	52	4690										
CSK	1445	hgsc.bcm.edu	37	chr15	75093927	75093927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gggcggagactgtctcctcaAgttctcgctgtgagtgaagc	14	10	3	3			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr15:75093927A>G	ENST00000220003.9	+	10	1607	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CSK_ENST00000567571.1_Missense_Mutation_p.K293R|CSK_ENST00000309470.9_Missense_Mutation_p.K293R|CSK_ENST00000439220.2_Missense_Mutation_p.K293R	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						TGTCTCCTCAAGTTCTCGCTG	0.627																																					p.K293R		Atlas-SNP	.											.	CSK	43	.	0			c.A878G						PASS	.						106	86	93					15																	75093927		2197	4296	6493	SO:0001583	missense	1445	exon11			TCCTCAAGTTCTC		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.878A>G	15.37:g.75093927A>G	ENSP00000220003:p.Lys293Arg	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	69	8	0.115942	NM_001127190	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.368850	0.42003	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.82984	-1.67;-1.67;-1.67	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.207772	0.48767	D	0.000163	T	0.64193	0.2576	N	0.02111	-0.68	0.42521	D	0.993006	B	0.33280	0.405	B	0.32928	0.155	T	0.72228	-0.4354	10	0.87932	D	0	-24.1195	14.1618	0.65452	1.0:0.0:0.0:0.0	.	293	P41240	CSK_HUMAN	R	293;293;242;293	ENSP00000220003:K293R;ENSP00000414764:K293R;ENSP00000438808:K293R	ENSP00000220003:K293R	K	+	2	0	CSK	72880980	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.845000	0.69437	1.990000	0.58119	0.529000	0.55759	AAG	.	.	none		0.627	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		G	75093927	A	G	75093927	3	3	19	1	0	0	0	0	1	0	0	0	3943	72	3	3	912	3	CSK	15	75093927	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10		75093927	27437465	53	4691										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320144	90320144	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggcaggggcaagggcaggggCaggggcaggggcaagggcag	25	7	0	0	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr15:90320144C>G	ENST00000341735.3	+	1	556	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	186	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			agggcaggggcaggggcaggg	0.786																																					p.Q186E		Atlas-SNP	.											.	MESP2	20	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.C556G						PASS	.						2	2	2					15																	90320144		1033	2283	3316	SO:0001583	missense	145873	exon1			CAGGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.556C>G	15.37:g.90320144C>G	ENSP00000342392:p.Gln186Glu	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	18	6	0.333333	NM_001039958	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	-	2.714	-0.268135	0.05716	.	.	ENSG00000188095	ENST00000341735	T	0.81163	-1.46	1.25	0.212	0.15240	.	.	.	.	.	T	0.56963	0.2021	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.21360	0.034	T	0.41680	-0.9495	9	0.14252	T	0.57	.	5.4957	0.16802	0.0:0.5895:0.4105:0.0	.	186	Q0VG99	MESP2_HUMAN	E	186	ENSP00000342392:Q186E	ENSP00000342392:Q186E	Q	+	1	0	MESP2	88121148	0.038000	0.19896	0.001000	0.08648	0.006000	0.05464	0.044000	0.13992	0.112000	0.17975	0.297000	0.19635	CAG	.	.	none		0.786	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		G	90320144	C	G	90320144	3	3	19	1	0	0	0	0	1	0	0	0	9483	711	25	4	558	4	MESP2	15	90320144	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	15226217	90320144	12211248	54	4692										
ZC3H7A	29066	hgsc.bcm.edu	37	chr16	11855353	11855353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	acatcactctcatcgcacgcCggtctttggtccacctaaga	7	15	3	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr16:11855353C>T	ENST00000396516.2	-	18	2425	c.2228G>A	c.(2227-2229)cGg>cAg	p.R743Q	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.R743Q|ZC3H7A_ENST00000575984.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	743						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATCGCACGCCGGTCTTTGGT	0.428																																					p.R743Q		Atlas-SNP	.											ZC3H7A,NS,carcinoma,-1,1	ZC3H7A	72	1	0			c.G2228A						PASS	.						124	121	122					16																	11855353		2197	4300	6497	SO:0001583	missense	29066	exon19			GCACGCCGGTCTT	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2228G>A	16.37:g.11855353C>T	ENSP00000379773:p.Arg743Gln	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	106	40	0.377358	NM_014153	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235201	0.79800	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.11385	2.78;2.78	5.66	5.66	0.87406	.	0.149940	0.56097	D	0.000027	T	0.16428	0.0395	L	0.61218	1.895	0.80722	D	1	P;P	0.48764	0.89;0.915	P;P	0.45276	0.454;0.475	T	0.00275	-1.1856	10	0.56958	D	0.05	.	12.1063	0.53813	0.0:0.9222:0.0:0.0778	.	464;743	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Q	743	ENSP00000347999:R743Q;ENSP00000379773:R743Q	ENSP00000347999:R743Q	R	-	2	0	ZC3H7A	11762854	0.996000	0.38824	0.911000	0.35937	0.989000	0.77384	3.366000	0.52343	2.665000	0.90641	0.563000	0.77884	CGG	.	.	none		0.428	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		T	11855353	C	T	11855353	3	4	19	1	0	0	0	0	1	0	0	0	17569	652	23	1	707	1	ZC3H7A	16	11855353	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		11855353	78499400	55	4693										
GLP2R	9340	hgsc.bcm.edu	37	chr17	9745901	9745901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	atatttggcaggatgactccGaatgctccgagaaccacagc	10	11	0	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr17:9745901G>A	ENST00000262441.5	+	4	985	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	158					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.E158K(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGATGACTCCGAATGCTCCGA	0.547																																					p.E158K		Atlas-SNP	.											GLP2R,rectum,carcinoma,0,1	GLP2R	90	1	1	Substitution - Missense(1)	large_intestine(1)	c.G472A						PASS	.						130	104	113					17																	9745901		2203	4300	6503	SO:0001583	missense	9340	exon4			GACTCCGAATGCT	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.472G>A	17.37:g.9745901G>A	ENSP00000262441:p.Glu158Lys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	33	7	0.212121	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538263	0.96460	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37915	1.17	5.06	5.06	0.68205	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.39341	N	0.001387	T	0.54711	0.1875	M	0.74258	2.255	0.53688	D	0.999978	P	0.50156	0.932	P	0.54026	0.74	T	0.59621	-0.7420	10	0.72032	D	0.01	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	158	O95838	GLP2R_HUMAN	K	158;133;158	ENSP00000262441:E158K	ENSP00000262441:E158K	E	+	1	0	GLP2R	9686626	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.102000	0.71486	2.643000	0.89663	0.655000	0.94253	GAA	.	.	none		0.547	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9745901	G	A	9745901	3	1	19	1	0	0	0	0	1	0	0	0	6453	1059	37	1	486	1	GLP2R	17	9745901	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		9745901	71449309	56	4694										
COLEC12	81035	hgsc.bcm.edu	37	chr18	333015	333015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tggcaggcatacctgttcctCtctagtgtttatgaaaacaa	8	9	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr18:333015C>T	ENST00000400256.3	-	7	2152	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	649	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACCTGTTCCTCTCTAGTGTTT	0.368																																					p.E649K		Atlas-SNP	.											.	COLEC12	121	.	0			c.G1945A						PASS	.						75	81	79					18																	333015		2203	4300	6503	SO:0001583	missense	81035	exon7			GTTCCTCTCTAGT	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1945G>A	18.37:g.333015C>T	ENSP00000383115:p.Glu649Lys	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	172	20	0.116279	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318823	0.81469	.	.	ENSG00000158270	ENST00000400256	T	0.20598	2.06	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	M	0.74881	2.28	0.80722	D	1	P	0.41008	0.735	B	0.38156	0.266	T	0.02877	-1.1099	10	0.39692	T	0.17	-25.494	14.0139	0.64513	0.0:0.9279:0.0:0.0721	.	649	Q5KU26	COL12_HUMAN	K	649	ENSP00000383115:E649K	ENSP00000383115:E649K	E	-	1	0	COLEC12	323015	1.000000	0.71417	0.959000	0.39883	0.647000	0.38526	5.691000	0.68249	2.686000	0.91538	0.650000	0.86243	GAG	.	.	none		0.368	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			T	333015	C	T	333015	3	4	19	1	0	0	0	0	1	0	0	0	3712	922	32	2	299	2	COLEC12	18	333015	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		333015	77744233	57	4695										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6978310	6978310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	agccccgccacgtccctcagCgtgctcaccgcgctctggct	10	20	3	0			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr18:6978310C>T	ENST00000389658.3	-	43	6168	c.6075G>A	c.(6073-6075)acG>acA	p.T2025T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2025	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCCCTCAGCGTGCTCACCG	0.537																																					p.T2025T		Atlas-SNP	.											LAMA1,NS,carcinoma,-1,1	LAMA1	458	1	0			c.G6075A						PASS	.						113	102	106					18																	6978310		2203	4300	6503	SO:0001819	synonymous_variant	284217	exon43			CCTCAGCGTGCTC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6075G>A	18.37:g.6978310C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	151	29	0.192053	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			.	.	none		0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6978310	C	T	6978310	2	4	19	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	6978310	Silent	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	6645295	6978310	71098938	58	4696										
LAMA3	3909	hgsc.bcm.edu	37	chr18	21508671	21508671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	acctactgaccacctccaggCctcatttggatttcagacct	6	15	2	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr18:21508671C>T	ENST00000313654.9	+	64	8619	c.8378C>T	c.(8377-8379)gCc>gTc	p.A2793V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A2737V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A1184V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A1128V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2793	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACCTCCAGGCCTCATTTGGA	0.428																																					p.A2793V		Atlas-SNP	.											.	LAMA3	397	.	0			c.C8378T						PASS	.						188	161	170					18																	21508671		2203	4300	6503	SO:0001583	missense	3909	exon64			TCCAGGCCTCATT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8378C>T	18.37:g.21508671C>T	ENSP00000324532:p.Ala2793Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	174	20	0.114943	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	6.801	0.516865	0.13005	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.14766	2.48;2.48;2.48	5.84	3.09	0.35607	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.08268	0.0206	L	0.33485	1.01	0.24198	N	0.995527	P;P;B;B	0.40431	0.666;0.717;0.002;0.028	B;B;B;B	0.37480	0.194;0.251;0.004;0.01	T	0.13361	-1.0512	9	0.05959	T	0.93	.	7.515	0.27596	0.0:0.659:0.0:0.341	.	1128;1184;2737;2793	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2793;2737;1184	ENSP00000324532:A2793V;ENSP00000382432:A2737V;ENSP00000269217:A1184V	ENSP00000269217:A1184V	A	+	2	0	LAMA3	19762669	0.827000	0.29292	0.996000	0.52242	0.815000	0.46073	0.444000	0.21661	0.378000	0.24764	-0.136000	0.14681	GCC	.	.	none		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21508671	C	T	21508671	3	4	19	1	0	0	0	0	1	0	0	0	8607	739	26	2	8807	2	LAMA3	18	21508671	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	14530361	21508671	56568577	59	4697										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31324277	31324277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cctccagtttgtctctgactGtctccgttgaaagctcagaa	8	12	3	3	rs576992025		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr18:31324277G>A	ENST00000269197.5	+	12	4465	c.4465G>A	c.(4465-4467)Gtc>Atc	p.V1489I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1489					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTCTGACTGTCTCCGTTGA	0.562											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V1489I		Atlas-SNP	.											.	ASXL3	405	.	0			c.G4465A						PASS	.						47	50	49					18																	31324277		2202	4300	6502	SO:0001583	missense	80816	exon12			CTGACTGTCTCCG	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4465G>A	18.37:g.31324277G>A	ENSP00000269197:p.Val1489Ile	Somatic	67	0	0	823	WXS	Illumina HiSeq	Phase_I	55	22	0.4	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477762	0.44044	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	6.16	6.16	0.99307	.	.	.	.	.	T	0.13372	0.0324	L	0.27053	0.805	0.27072	N	0.963301	B	0.23540	0.087	B	0.20577	0.03	T	0.08289	-1.0729	9	0.46703	T	0.11	.	10.2745	0.43501	0.0701:0.0:0.7846:0.1453	.	1489	Q9C0F0	ASXL3_HUMAN	I	1489	ENSP00000269197:V1489I	ENSP00000269197:V1489I	V	+	1	0	ASXL3	29578275	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.272000	0.43373	2.937000	0.99478	0.650000	0.86243	GTC	.	.	none		0.562	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31324277	G	A	31324277	3	1	19	1	0	0	0	0	1	0	0	0	1068	1377	48	2	4511	2	ASXL3	18	31324277	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	9815606	31324277	46752971	60	4698										
KIAA1632	57724	hgsc.bcm.edu	37	chr18	43514836	43514836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gagagctgctgcaggttctcGctctccacctggtgcatgag	13	12	2	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr18:43514836G>A	ENST00000282041.5	-	11	2230	c.2196C>T	c.(2194-2196)agC>agT	p.S732S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	732					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCAGGTTCTCGCTCTCCACCT	0.597																																					p.S732S		Atlas-SNP	.											.	EPG5	199	.	0			c.C2196T						PASS	.						56	59	58					18																	43514836		2028	4189	6217	SO:0001819	synonymous_variant	57724	exon11			GTTCTCGCTCTCC	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2196C>T	18.37:g.43514836G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	156	28	0.179487	NM_020964	A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	CCDS11926.2																																																																																			.	.	none		0.597	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43514836	G	A	43514836	2	1	19	1	0	0	0	0	0	0	0	1	8249	1078	38	1		1	KIAA1632	18	43514836	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	12190559	43514836	34562412	61	4699										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12501466	12501466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tcatacgggttctctccagtAtgagttttttcatgtccttg	8	9	3	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr19:12501466A>G	ENST00000430385.3	-	4	1946	c.1746T>C	c.(1744-1746)caT>caC	p.H582H	ZNF799_ENST00000419318.1_Silent_p.H550H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	582					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTCTCCAGTATGAGTTTTTT	0.393																																					p.H582H		Atlas-SNP	.											ZNF799_ENST00000430385,NS,malignant_melanoma,0,2	ZNF799	111	2	0			c.T1746C						scavenged	.						74	78	76					19																	12501466		2202	4295	6497	SO:0001819	synonymous_variant	90576	exon4			TCCAGTATGAGTT	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1746T>C	19.37:g.12501466A>G		Somatic	360	1	0.00277778		WXS	Illumina HiSeq	Phase_I	317	4	0.0126183	NM_001080821		Silent	SNP	ENST00000430385.3	37	CCDS45989.1																																																																																			.	.	none		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12501466	A	G	12501466	2	3	19	1	0	0	0	0	0	0	0	1	18163	446	16	2		2	ZNF799	19	12501466	Silent	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10		12501466	46627517	62	4700										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aggttcctacctcatagtagAcaccattgtggtagcagcca	9	11	1	1	rs377439998		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr19:40376323A>G	ENST00000221347.6	-	25	11988	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3994	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.V3994A(3)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562																																					p.V3994A		Atlas-SNP	.											FCGBP,NS,carcinoma,0,3	FCGBP	416	3	3	Substitution - Missense(3)	endometrium(2)|upper_aerodigestive_tract(1)	c.T11981C						scavenged	.						65	59	61					19																	40376323		2199	4300	6499	SO:0001583	missense	8857	exon25			TAGTAGACACCAT	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11981T>C	19.37:g.40376323A>G	ENSP00000221347:p.Val3994Ala	Somatic	67	3	0.0447761		WXS	Illumina HiSeq	Phase_I	64	5	0.078125	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	a	2.731	-0.264330	0.05754	.	.	ENSG00000090920	ENST00000221347	T	0.04360	3.64	3.4	-5.71	0.02413	von Willebrand factor, type C (1);	.	.	.	.	T	0.02418	0.0074	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49322	-0.8952	9	0.09590	T	0.72	.	7.1668	0.25695	0.2551:0.2893:0.4556:0.0	.	3994	Q9Y6R7	FCGBP_HUMAN	A	3994	ENSP00000221347:V3994A	ENSP00000221347:V3994A	V	-	2	0	FCGBP	45068163	0.000000	0.05858	0.034000	0.17996	0.099000	0.18886	1.012000	0.29924	-0.821000	0.04312	-0.850000	0.03035	GTC	.	.	weak		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40376323	A	G	40376323	3	3	19	1	0	0	0	0	1	0	0	0	5778	275	10	2	4284	2	FCGBP	19	40376323	Missense_Mutation	SNP	A	TCGA-FF-A7CW-01A-11D-A382-10	27874857	40376323	18752660	63	4701										
LILRA1	11024	hgsc.bcm.edu	37	chr19	55106239	55106239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gagacccaggagtaccgtctGtatagagaaaagaaaacagc	11	8	1	3			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Silent_p.L60L	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	60	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGTACCGTCTGTATAGAGAAA	0.572																																					p.L60L		Atlas-SNP	.											LILRA1,NS,carcinoma,0,3	LILRA1	105	3	3	Substitution - coding silent(3)	kidney(3)	c.G180A						scavenged	.						124	119	121					19																	55106239		2203	4300	6503	SO:0001819	synonymous_variant	11024	exon4			CCGTCTGTATAGA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.180G>A	19.37:g.55106239G>A		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	94	7	0.0744681	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			.	.	none		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55106239	G	A	55106239	2	1	19	1	0	0	0	0	0	0	0	1	8784	1364	48	2		2	LILRA1	19	55106239	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	14729916	55106239	4022744	64	4702										
CST2	1470	hgsc.bcm.edu	37	chr20	23805952	23805952	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tcgaagaagtaattcaccccGcccacgatctacacacatga	6	14	2	2	rs146039211	byFrequency	TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr20:23805952G>C	ENST00000304725.2	-	2	307	c.237C>G	c.(235-237)ggC>ggG	p.G79G		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	79					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						AATTCACCCCGCCCACGATCT	0.542																																					p.G79G	Pancreas(193;496 3017 22514 29918)	Atlas-SNP	.											CST2,NS,adenoma,-1,1	CST2	39	1	0			c.C237G						scavenged	.						226	176	193					20																	23805952		2203	4300	6503	SO:0001819	synonymous_variant	1470	exon2			CACCCCGCCCACG	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.237C>G	20.37:g.23805952G>C		Somatic	58	3	0.0517241		WXS	Illumina HiSeq	Phase_I	54	3	0.0555556	NM_001322	Q9UCQ7	Silent	SNP	ENST00000304725.2	37	CCDS13161.1																																																																																			G|0.999;A|0.001	.	alt		0.542	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			C	23805952	G	C	23805952	2	2	19	1	0	0	0	0	0	0	0	1	3972	1074	38	4		4	CST2	20	23805952	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		23805952	39219568	65	4703										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46254225	46254225	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ttaggaccgcttttacttcaGgcaagtataaagattttaac	7	7	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr20:46254225G>T	ENST00000371998.3	+	5	548	c.357G>T	c.(355-357)caG>caT	p.Q119H	NCOA3_ENST00000371997.3_Splice_Site_p.Q119H|NCOA3_ENST00000372004.3_Splice_Site_p.Q119H|NCOA3_ENST00000341724.6_Splice_Site_p.Q119H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	119	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTACTTCAGGCAAGTATAA	0.343																																					p.Q119H		Atlas-SNP	.											.	NCOA3	156	.	0			c.G357T						PASS	.						76	71	73					20																	46254225		2203	4300	6503	SO:0001630	splice_region_variant	8202	exon5			ACTTCAGGCAAGT	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.357+1G>T	20.37:g.46254225G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672296	0.88348	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02606	4.23;4.39;4.39;4.24	5.62	5.62	0.85841	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.983;0.998	T	0.00077	-1.2116	10	0.87932	D	0	-11.5155	19.6585	0.95853	0.0:0.0:1.0:0.0	.	119;123;119;119;119	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	H	119	ENSP00000342123:Q119H;ENSP00000361073:Q119H;ENSP00000361066:Q119H;ENSP00000361065:Q119H	ENSP00000345671:Q119H	Q	+	3	2	NCOA3	45687632	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.004000	0.88535	2.657000	0.90304	0.467000	0.42956	CAG	.	.	none		0.343	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Missense_Mutation	T	46254225	G	T	46254225	5	4	19	1	0	0	0	0	0	0	1	0	10230	1014	35	4	367	4	NCOA3	20	46254225	Splice_Site	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	22448273	46254225	16771295	66	4704										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46279839	46279839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	cagcagcagcagcagcaacaGcagcagcagcagcagcagca	12	14	0	0	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000371997.3_Silent_p.Q1246Q|NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000341724.6_Silent_p.Q1181Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1255delQ(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcaacagcagcagcagc	0.557																																					p.Q1255Q		Atlas-SNP	.											NCOA3,rectum,carcinoma,0,1	NCOA3	156	1	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.G3765A						scavenged	.						41	44	43					20																	46279839		2202	4300	6502	SO:0001819	synonymous_variant	8202	exon20			GCAACAGCAGCAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3765G>A	20.37:g.46279839G>A		Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	61	11	0.180328	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.	.	weak		0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279839	G	A	46279839	2	1	19	1	0	0	0	0	0	0	0	1	10230	962	34	2		2	NCOA3	20	46279839	Silent	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10	25614	46279839	16745681	67	4705										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46012160	46012160	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	ggctgggctcacaggtcactGggcagcaggggctggacaca	17	11	2	0	rs62220887		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chr21:46012160G>C	ENST00000400368.1	-	1	226	c.206C>G	c.(205-207)cCa>cGa	p.P69R	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	69	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P69R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						ACAGGTCACTGGGCAGCAGGG	0.697																																					p.P69R		Atlas-SNP	.											KRTAP10-6,trunk,malignant_melanoma,0,1	KRTAP10-6	57	1	1	Substitution - Missense(1)	skin(1)	c.C206G						scavenged	.						8	9	8					21																	46012160		1799	3920	5719	SO:0001583	missense	386674	exon1			GTCACTGGGCAGC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.206C>G	21.37:g.46012160G>C	ENSP00000383219:p.Pro69Arg	Somatic	74	22	0.297297		WXS	Illumina HiSeq	Phase_I	66	19	0.287879	NM_198688		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	194	0.08882783882783883	67	0.13617886178861788	26	0.0718232044198895	31	0.05419580419580419	70	0.09234828496042216	t	0.001	-3.563519	0.00008	.	.	ENSG00000188155	ENST00000400368	T	0.00873	5.59	0.427	-0.836	0.10770	.	.	.	.	.	T	0.00012	0.0000	N	0.25426	0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49716	-0.8910	9	0.59425	D	0.04	.	0.1138	0.00058	0.2539:0.2389:0.2542:0.2531	rs62220887	69	P60371	KR106_HUMAN	R	69	ENSP00000383219:P69R	ENSP00000383219:P69R	P	-	2	0	KRTAP10-6	44836588	0.004000	0.15560	0.034000	0.17996	0.004000	0.04260	-0.105000	0.10907	-1.484000	0.01856	-1.228000	0.01579	CCA	G|0.911;C|0.089	0.089	strong		0.697	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46012160	G	C	46012160	3	2	19	1	0	0	0	0	1	0	0	0	8513	1348	47	4	895	4	KRTAP10-6	21	46012160	Missense_Mutation	SNP	G	TCGA-FF-A7CW-01A-11D-A382-10		46012160	2117735	68	4706										
ACE2	59272	hgsc.bcm.edu	37	chrX	15612969	15612969	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	aaaatgttcacaaacgtaccCgtttgctcttgtcttctgag	7	10	4	1	rs201900069		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:15612969C>T	ENST00000252519.3	-	2	446	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	ACE2_ENST00000427411.1_Splice_Site_p.R115Q			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	115					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAAACGTACCCGTTTGCTCTT	0.388													C|||	1	0.000264901	0.0	0.0	3775	,	,		13925	0.001		0.0	False		,,,				2504	0.0				p.R115Q		Atlas-SNP	.											.	ACE2	87	.	0			c.G344A						PASS	.	C	GLN/ARG	0,3835		0,0,1632,571	180	167	172		344	-3.8	0	X		172	1,6727		0,1,2427,1872	no	missense-near-splice	ACE2	NM_021804.2	43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	115/806	15612969	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	59272	exon3			CGTACCCGTTTGC	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.345+1G>A	X.37:g.15612969C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	58	33	0.568965	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.400	0.073831	0.08485	0.0	1.49E-4	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.34072	1.38;1.38	6.02	-3.77	0.04346	.	0.724147	0.13392	N	0.391291	T	0.16769	0.0403	N	0.16266	0.395	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21518	-1.0243	10	0.20046	T	0.44	-2.3109	7.4188	0.27061	0.1206:0.2584:0.0:0.6211	.	115	Q9BYF1	ACE2_HUMAN	Q	115	ENSP00000252519:R115Q;ENSP00000389326:R115Q	ENSP00000252519:R115Q	R	-	2	0	ACE2	15522890	0.018000	0.18449	0.005000	0.12908	0.151000	0.21798	0.082000	0.14847	-1.172000	0.02762	-1.013000	0.02462	CGG	C|0.999;T|0.001	0.001	strong		0.388	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		Missense_Mutation	T	15612969	C	T	15612969	5	4	19	1	0	0	0	0	0	0	1	0	137	666	23	1	2141	1	ACE2	23	15612969	Splice_Site	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10		15612969	139657591	69	4707										
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382417	24382418	+	IGR	INS	-	-	CTGCTGCTC													0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tgctgctgctgctgctgctgINSctgctgctgctcctgctcct					rs185449787		TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:24382417_24382418insCTGCTGCTC								AC004552.1 (15394 upstream) : PDK3 (100919 downstream)																							tgctgctgctgctgctgctgct	0.619																																					p.A514delinsAAAP		Atlas-Indel	.											.	.	.	.	0			c.1540_1541insCTGCTGCTC						PASS	.																																			SO:0001628	intergenic_variant	100130302	exon1			.																													X.37:g.24382417_24382418insCTGCTGCTC		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_001136234		In_Frame_Ins	INS		37																																																																																				.	.	alt	0	0.619									CTGCTGCTC	24382418	-	CTGCTGCTC	24382417	6	5	19	0	1	1	1	0	0	0	0	0	5573	1319	46	0		0	FAM48B1	23	24382417	IGR	INS	-	TCGA-FF-A7CW-01A-11D-A382-10	8769448	24382417	130888143	70	4708										
SLC35A2	7355	hgsc.bcm.edu	37	chrX	48762343	48762346	+	Frame_Shift_Del	DEL	GCCG	GCCG	-													0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	accacagccaccagtagcccGccgaaggcctggttgagcac							TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	GCCG	GCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:48762343_48762346delGCCG	ENST00000247138.5	-	4	843_846	c.840_843delCGGC	c.(838-843)ttcggcfs	p.FG280fs	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.FG219fs|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.FG280fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.FG308fs	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	280					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CCAGTAGCCCGCCGAAGGCCTGGT	0.603																																					p.281_282del		Pindel,Atlas-Indel	.											.	SLC35A2	46	.	0			c.841_844del						PASS	.																																			SO:0001589	frameshift_variant	7355	exon4			.	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.840_843delCGGC	X.37:g.48762343_48762346delGCCG	ENSP00000247138:p.Phe280fs	Somatic	54	.	.		WXS	Illumina HiSeq	Phase_I	47	13	0.277	NM_001042498	A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	ENST00000247138.5	37	CCDS14311.1																																																																																			.	.	none		0.603	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		-	48762346	GCCG	-	48762343	7	5	19	1	0	1	0	1	0	0	0	0	14571	1074	38	0	511	0	SLC35A2	23	48762343	Frame_Shift_Del	DEL	GCCG	TCGA-FF-A7CW-01A-11D-A382-10	24379926	48762343	106508217	71	4709										
RPS6KA6	27330	hgsc.bcm.edu	37	chrX	83357092	83357092	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gcatggagttaagagaagtcCattttctcctcgaagttgtt	10	7	1	1			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:83357092C>A	ENST00000262752.2	-	18	1736	c.1729G>T	c.(1729-1731)Gga>Tga	p.G577*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.G577*|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	577	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGAGAAGTCCATTTTCTCCT	0.358																																					p.G577X		Atlas-SNP	.											.	RPS6KA6	116	.	0			c.G1729T						PASS	.						135	115	122					X																	83357092		2203	4300	6503	SO:0001587	stop_gained	27330	exon18			GAAGTCCATTTTC	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1729G>T	X.37:g.83357092C>A	ENSP00000262752:p.Gly577*	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	178	92	0.516854	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	39	7.488025	0.98316	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	5.11	0.69529	.	0.055100	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.9644	0.89096	0.0:1.0:0.0:0.0	.	.	.	.	X	577	.	ENSP00000262752:G577X	G	-	1	0	RPS6KA6	83243748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.263000	0.75096	0.523000	0.50628	GGA	.	.	none		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		A	83357092	C	A	83357092	4	1	19	1	0	0	0	0	0	1	0	0	13655	603	21	4	528	4	RPS6KA6	23	83357092	Nonsense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	34594749	83357092	71913468	72	4710										
POF1B	79983	hgsc.bcm.edu	37	chrX	84586012	84586012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	gatatagatccgtattcttaCggctcagatcagcaagcaac	8	10	3	2			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:84586012C>T	ENST00000262753.4	-	7	942	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	266						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383																																					p.R266H		Atlas-SNP	.											.	POF1B	77	.	0			c.G797A						PASS	.						108	91	97					X																	84586012		2203	4300	6503	SO:0001583	missense	79983	exon7			TTCTTACGGCTCA	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.797G>A	X.37:g.84586012C>T	ENSP00000262753:p.Arg266His	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	185	93	0.502703	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365477	0.61513	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.26067	1.76;1.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58101	1.795	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.41680	-0.9495	10	0.54805	T	0.06	-0.0188	16.0996	0.81163	0.0:1.0:0.0:0.0	.	266;266	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	H	266	ENSP00000262753:R266H;ENSP00000362238:R266H	ENSP00000262753:R266H	R	-	2	0	POF1B	84472668	1.000000	0.71417	0.845000	0.33349	0.209000	0.24338	4.530000	0.60595	2.404000	0.81709	0.600000	0.82982	CGT	.	.	none		0.383	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		T	84586012	C	T	84586012	3	4	19	1	0	0	0	0	1	0	0	0	12182	536	19	1	1016	1	POF1B	23	84586012	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	1228920	84586012	70684548	73	4711										
SPANXN2	494119	hgsc.bcm.edu	37	chrX	142795338	142795338	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.027027027027027	2	1	0.309049398090494	0	0.367518203134642	0.4	0.656	0	tccttcagatgagtccaggtCttcgtcctcctgtgaagatc	9	12	2	4			TCGA-FF-A7CW-01A-11D-A382-10	TCGA-FF-A7CW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	422d5ebf-9d30-4c11-b1fe-c437822f0143	22d154b9-2ceb-409b-94d1-8f44d359d3a3	g.chrX:142795338C>A	ENST00000370498.1	-	2	1093	c.340G>T	c.(340-342)Gac>Tac	p.D114Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	114										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCAGGTCTTCGTCCTCC	0.527																																					p.D114Y		Atlas-SNP	.											.	SPANXN2	67	.	0			c.G340T						PASS	.						56	53	54					X																	142795338		2199	4293	6492	SO:0001583	missense	494119	exon2			CCAGGTCTTCGTC		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.340G>T	X.37:g.142795338C>A	ENSP00000359529:p.Asp114Tyr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	139	37	0.266187	NM_001009615	Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	c	4.402	0.074349	0.08485	.	.	ENSG00000203924	ENST00000370498	T	0.08984	3.03	0.755	-1.51	0.08664	.	.	.	.	.	T	0.05181	0.0138	L	0.55481	1.735	0.09310	N	1	P	0.42993	0.797	B	0.25291	0.059	T	0.20042	-1.0287	8	0.87932	D	0	.	.	.	.	.	114	Q5MJ10	SPXN2_HUMAN	Y	114	ENSP00000359529:D114Y	ENSP00000359529:D114Y	D	-	1	0	SPANXN2	142623004	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.082000	0.14847	-1.317000	0.02292	0.173000	0.16961	GAC	.	.	none		0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		A	142795338	C	A	142795338	3	1	19	1	0	0	0	0	1	0	0	0	14991	913	32	4	206	4	SPANXN2	23	142795338	Missense_Mutation	SNP	C	TCGA-FF-A7CW-01A-11D-A382-10	58209326	142795338	12475222	74	4712										
KIAA0562	9731	hgsc.bcm.edu	37	chr1	3742332	3742332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctggcctgacctgtttgcagTggtcacatcttgtcagcatg	11	11	3	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:3742332T>C	ENST00000378230.3	-	18	2678	c.2354A>G	c.(2353-2355)cAc>cGc	p.H785R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	785						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTGTTTGCAGTGGTCACATCT	0.507																																					p.H785R		Atlas-SNP	.											.	CEP104	79	.	0			c.A2354G						PASS	.						117	102	107					1																	3742332		2203	4300	6503	SO:0001583	missense	9731	exon18			TTGCAGTGGTCAC	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2354A>G	1.37:g.3742332T>C	ENSP00000367476:p.His785Arg	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.82|13.82	2.352613|2.352613	0.41700|0.41700	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.31247|.	1.5|.	4.84|4.84	2.5|2.5	0.30297|0.30297	.|.	0.537894|.	0.19901|.	N|.	0.103507|.	T|T	0.63534|0.63534	0.2519|0.2519	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	P|.	0.46220|.	0.874|.	P|.	0.45712|.	0.491|.	T|T	0.58261|0.58261	-0.7667|-0.7667	10|5	0.45353|.	T|.	0.12|.	.|.	8.4447|8.4447	0.32834|0.32834	0.0:0.1613:0.0:0.8387|0.0:0.1613:0.0:0.8387	.|.	785|.	O60308|.	CE104_HUMAN|.	R|A	785|82	ENSP00000367476:H785R|.	ENSP00000367476:H785R|.	H|T	-|-	2|1	0|0	CEP104|CEP104	3732192|3732192	1.000000|1.000000	0.71417|0.71417	0.385000|0.385000	0.26158|0.26158	0.725000|0.725000	0.41563|0.41563	3.962000|3.962000	0.56766|0.56766	0.225000|0.225000	0.20959|0.20959	0.533000|0.533000	0.62120|0.62120	CAC|ACT	.	.	none		0.507	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		C	3742332	T	C	3742332	3	2	20	1	0	0	0	0	1	0	0	0	8184	1696	59	2	443	2	KIAA0562	1	3742332	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10		3742332	245508289	1	4713										
EPHA2	1969	hgsc.bcm.edu	37	chr1	16475116	16475116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cttcttgtagtagacacggaCggagagcagcgccacacagg	13	11	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:16475116C>T	ENST00000358432.5	-	3	734	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	194	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGACACGGACGGAGAGCAGC	0.647																																					p.V194I		Atlas-SNP	.											.	EPHA2	102	.	0			c.G580A						PASS	.						63	61	62					1																	16475116		2203	4300	6503	SO:0001583	missense	1969	exon3			CACGGACGGAGAG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.580G>A	1.37:g.16475116C>T	ENSP00000351209:p.Val194Ile	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193575	0.58017	.	.	ENSG00000142627	ENST00000358432	T	0.05513	3.43	5.14	5.14	0.70334	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000150	T	0.14013	0.0339	M	0.68317	2.08	0.58432	D	0.999996	P;P	0.41978	0.767;0.674	P;B	0.44946	0.465;0.353	T	0.00423	-1.1748	10	0.87932	D	0	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	194;194	B5A968;P29317	.;EPHA2_HUMAN	I	194	ENSP00000351209:V194I	ENSP00000351209:V194I	V	-	1	0	EPHA2	16347703	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.023000	0.70848	2.393000	0.81446	0.561000	0.74099	GTC	.	.	none		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		T	16475116	C	T	16475116	3	4	20	1	0	0	0	0	1	0	0	0	5167	536	19	1	2410	1	EPHA2	1	16475116	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	12732784	16475116	232775505	2	4714										
EPHA8	2046	hgsc.bcm.edu	37	chr1	22915717	22915717	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caggtaggcggagaaactccGtcccgcagcgtcctggtccc	13	15	0	1	rs199679973		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:22915717G>A	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.V445I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V445I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V445I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAACTCCGTCCCGCAGCG	0.667																																					p.V445I		Atlas-SNP	.											EPHA8_ENST00000374644,colon,carcinoma,0,1	EPHA8	221	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1333A						PASS	.						35	35	35					1																	22915717		2203	4300	6503	SO:0001627	intron_variant	2046	exon5			AACTCCGTCCCGC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+18G>A	1.37:g.22915717G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_001006943	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450212	0.26074	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01304	5.03;5.03	4.52	0.0827	0.14430	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	N	1	B	0.26935	0.164	B	0.14023	0.01	T	0.48479	-0.9032	7	.	.	.	.	2.9702	0.05920	0.1737:0.1401:0.5431:0.1431	.	445	P29322-2	.	I	445	ENSP00000363775:V445I;ENSP00000440274:V445I	.	V	+	1	0	EPHA8	22788304	0.000000	0.05858	0.006000	0.13384	0.026000	0.11368	0.211000	0.17474	0.225000	0.20959	0.436000	0.28706	GTC	G|0.999;A|0.001	0.001	weak		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22915717	G	A	22915717	1	1	20	0	1	0	0	0	0	0	0	0	5173	1145	40	1		1	EPHA8	1	22915717	Intron	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	6440601	22915717	226334904	3	4715										
ID3	3399	hgsc.bcm.edu	37	chr1	23885712	23885712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agtcgatgacgcgctgtaggAtttccacctggctaagctga	12	10	0	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:23885712A>G	ENST00000374561.5	-	1	573	c.206T>C	c.(205-207)aTc>aCc	p.I69T	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	69	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCGCTGTAGGATTTCCACCTG	0.627																																					p.I69T		Atlas-SNP	.											.	ID3	29	.	0			c.T206C						PASS	.						59	64	62					1																	23885712		2203	4300	6503	SO:0001583	missense	3399	exon1			TGTAGGATTTCCA	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"Basic helix-loop-helix proteins"	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.206T>C	1.37:g.23885712A>G	ENSP00000363689:p.Ile69Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	112	61	0.544643	NM_002167	A8K1T8|O75641	Missense_Mutation	SNP	ENST00000374561.5	37	CCDS237.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401635	0.83120	.	.	ENSG00000117318	ENST00000374561	D	0.98633	-5.04	5.6	5.6	0.85130	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99886	1.1123	10	0.87932	D	0	-20.0651	14.6048	0.68469	1.0:0.0:0.0:0.0	.	69	Q02535	ID3_HUMAN	T	69	ENSP00000363689:I69T	ENSP00000363689:I69T	I	-	2	0	ID3	23758299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.126000	0.65437	0.482000	0.46254	ATC	.	.	none		0.627	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		G	23885712	A	G	23885712	3	3	20	1	0	0	0	0	1	0	0	0	7491	333	12	2	161	2	ID3	1	23885712	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	969995	23885712	225364909	4	4716										
DLGAP3	58512	hgsc.bcm.edu	37	chr1	35351360	35351360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cggggcctggcttcccggcgGgatggggggcggggcctttc	21	12	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:35351360G>A	ENST00000373347.1	-	7	1901	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P545S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	545					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTTCCCGGCGGGATGGGGGGC	0.756																																					p.P545S		Atlas-SNP	.											.	DLGAP3	107	.	0			c.C1633T						PASS	.						2	3	2					1																	35351360		1432	3197	4629	SO:0001583	missense	58512	exon5			CCGGCGGGATGGG	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1633C>T	1.37:g.35351360G>A	ENSP00000362444:p.Pro545Ser	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	45	20	0.444444	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393254	0.96009	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.59224	0.28;0.28	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.80155	-0.1500	10	0.56958	D	0.05	-13.9072	18.8995	0.92437	0.0:0.0:1.0:0.0	.	545	O95886	DLGP3_HUMAN	S	545	ENSP00000362444:P545S;ENSP00000235180:P545S	ENSP00000235180:P545S	P	-	1	0	DLGAP3	35123947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.369000	0.79578	2.684000	0.91462	0.561000	0.74099	CCG	.	.	none		0.756	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35351360	G	A	35351360	3	1	20	1	0	0	0	0	1	0	0	0	4561	1232	43	2	1330	2	DLGAP3	1	35351360	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	11465648	35351360	213899261	5	4717										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44085859	44085859	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gagcacaattccaccatcatCgtcatgctgaccaagcttcg	7	14	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:44085859C>T	ENST00000359947.4	+	30	5545	c.5205C>T	c.(5203-5205)atC>atT	p.I1735I	PTPRF_ENST00000422171.2_Silent_p.I1094I|PTPRF_ENST00000372413.3_Silent_p.I1726I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.I1735I|PTPRF_ENST00000438120.1_Silent_p.I1726I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1735	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCACCATCATCGTCATGCTGA	0.612																																					p.I1735I		Atlas-SNP	.											.	PTPRF	172	.	0			c.C5205T						PASS	.						128	121	123					1																	44085859		2203	4300	6503	SO:0001819	synonymous_variant	5792	exon30			CATCATCGTCATG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5205C>T	1.37:g.44085859C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	176	81	0.460227	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.027|7.027	0.559821|0.559821	0.13436|0.13436	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.97|4.97	1.84|1.84	0.25277|0.25277	.|.	.|.	.|.	.|.	.|.	T|T	0.53948|0.53948	0.1828|0.1828	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46582|0.46582	-0.9181|-0.9181	4|4	.|.	.|.	.|.	.|.	6.315|6.315	0.21186|0.21186	0.0:0.4855:0.3251:0.1893|0.0:0.4855:0.3251:0.1893	.|.	.|.	.|.	.|.	C|L	1119;1160|1381	.|.	.|.	R|S	+|+	1|2	0|0	PTPRF|PTPRF	43858446|43858446	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.303000|0.303000	0.19210|0.19210	0.769000|0.769000	0.33313|0.33313	0.563000|0.563000	0.77884|0.77884	CGT|TCG	.	.	none		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44085859	C	T	44085859	2	4	20	1	0	0	0	0	0	0	0	1	12801	874	31	1		1	PTPRF	1	44085859	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	8734499	44085859	205164762	6	4718										
NRD1	4898	hgsc.bcm.edu	37	chr1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	catcatcttcttcttcttccTccacctcctcttcttcttca	0	18	9	0	rs62648104		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V	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						PASS	.						163	138	146					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	1.37:g.52306079T>A	ENSP00000346890:p.Glu150Val	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	414	40	0.0966184	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	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	0.976	weak		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		A	52306079	T	A	52306079	3	1	20	1	0	0	0	0	1	0	0	0	10645	1551	54	5	3338	5	NRD1	1	52306079	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	8220220	52306079	196944542	7	4719										
DAB1	1600	hgsc.bcm.edu	37	chr1	57480789	57480789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccattttctgcctgggcttgTcggtctgtggacttgacctg	12	11	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:57480789T>G	ENST00000371231.1	-	13	1344	c.1310A>C	c.(1309-1311)gAc>gCc	p.D437A	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.D318A|DAB1_ENST00000371234.4_Missense_Mutation_p.D404A|DAB1_ENST00000420954.2_Missense_Mutation_p.D402A|DAB1_ENST00000371236.2_Missense_Mutation_p.D404A|DAB1_ENST00000414851.2_Missense_Mutation_p.D386A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	437					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCTGGGCTTGTCGGTCTGTGG	0.607																																					p.D404A		Atlas-SNP	.											.	DAB1	129	.	0			c.A1211C						PASS	.						76	72	74					1																	57480789		2203	4300	6503	SO:0001583	missense	1600	exon14			GGCTTGTCGGTCT	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1310A>C	1.37:g.57480789T>G	ENSP00000360275:p.Asp437Ala	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	98	38	0.387755	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	T	13.46	2.242995	0.39697	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.56611	0.45;0.45;0.48;0.52;1.56;0.5	5.54	4.41	0.53225	.	0.250480	0.47093	D	0.000257	T	0.32585	0.0834	N	0.08118	0	0.38346	D	0.944219	B;B;B;B;B	0.29988	0.264;0.002;0.023;0.006;0.007	B;B;B;B;B	0.29785	0.107;0.017;0.029;0.009;0.029	T	0.29761	-1.0001	10	0.48119	T	0.1	-22.3082	11.5505	0.50719	0.0:0.0695:0.0:0.9305	.	386;437;404;318;402	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	A	404;404;404;402;386;318;437	ENSP00000360280:D404A;ENSP00000360278:D404A;ENSP00000395296:D402A;ENSP00000387581:D386A;ENSP00000409328:D318A;ENSP00000360275:D437A	ENSP00000360275:D437A	D	-	2	0	DAB1	57253377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	1.114000	0.41781	0.528000	0.53228	GAC	.	.	none		0.607	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		G	57480789	T	G	57480789	3	3	20	1	0	0	0	0	1	0	0	0	4217	1667	58	5	468	5	DAB1	1	57480789	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	5174710	57480789	191769832	8	4720										
DAB1	1600	hgsc.bcm.edu	37	chr1	57481087	57481087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccagaaggacgggaggacagCgcccattgcaacgtaacctg	13	12	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:57481087C>T	ENST00000371231.1	-	13	1046	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.A219T|DAB1_ENST00000371234.4_Missense_Mutation_p.A305T|DAB1_ENST00000420954.2_Missense_Mutation_p.A303T|DAB1_ENST00000371236.2_Missense_Mutation_p.A305T|DAB1_ENST00000414851.2_Missense_Mutation_p.A287T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	338					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGAGGACAGCGCCCATTGCA	0.577																																					p.A305T		Atlas-SNP	.											.	DAB1	129	.	0			c.G913A						PASS	.						24	27	26					1																	57481087		2199	4292	6491	SO:0001583	missense	1600	exon14			GGACAGCGCCCAT	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1012G>A	1.37:g.57481087C>T	ENSP00000360275:p.Ala338Thr	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	59	5	0.0847458	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	13.22	2.173250	0.38413	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232	T;T;T;T;T;T;T	0.54675	0.63;0.63;0.78;0.66;1.79;0.76;0.56	5.54	3.7	0.42460	.	0.145096	0.64402	N	0.000008	T	0.29783	0.0744	N	0.14661	0.345	0.58432	D	0.999996	P;B;B;B;P	0.42078	0.77;0.005;0.014;0.014;0.77	B;B;B;B;B	0.32149	0.141;0.052;0.015;0.008;0.141	T	0.05989	-1.0852	10	0.30078	T	0.28	-23.0659	12.5109	0.56005	0.0:0.8654:0.0:0.1346	.	287;338;305;219;303	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	T	305;305;305;303;287;219;338;219	ENSP00000360280:A305T;ENSP00000360278:A305T;ENSP00000395296:A303T;ENSP00000387581:A287T;ENSP00000409328:A219T;ENSP00000360275:A338T;ENSP00000360276:A219T	ENSP00000360275:A338T	A	-	1	0	DAB1	57253675	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.349000	0.44054	0.915000	0.36847	-0.133000	0.14855	GCT	.	.	none		0.577	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		T	57481087	C	T	57481087	3	4	20	1	0	0	0	0	1	0	0	0	4217	768	27	1	766	1	DAB1	1	57481087	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	298	57481087	191769534	9	4721										
DOCK7	85440	hgsc.bcm.edu	37	chr1	62962115	62962115	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcattaaaattctgagatgtGcccaccaaggaggatagtga	10	7	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:62962115G>T	ENST00000340370.5	-	37	4742	c.4725C>A	c.(4723-4725)ggC>ggA	p.G1575G	DOCK7_ENST00000251157.5_Silent_p.G1597G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1606					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTGAGATGTGCCCACCAAGG	0.358																																					p.G1597G		Atlas-SNP	.											.	DOCK7	184	.	0			c.C4791A						PASS	.						85	84	85					1																	62962115		2203	4300	6503	SO:0001819	synonymous_variant	85440	exon38			AGATGTGCCCACC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4725C>A	1.37:g.62962115G>T		Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	248	105	0.423387	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985117	0.18889	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.97	0.57	0.17347	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22243	-1.0222	4	.	.	.	.	2.6339	0.04952	0.2263:0.3704:0.296:0.1073	.	.	.	.	N	769	.	.	H	-	1	0	DOCK7	62734703	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.554000	0.23407	0.111000	0.17947	0.585000	0.79938	CAC	.	.	none		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	62962115	G	T	62962115	2	4	20	1	0	0	0	0	0	0	0	1	4692	1306	46	4		4	DOCK7	1	62962115	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	5481028	62962115	186288506	10	4722										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120529632	120529635	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	taagtgttgaccccatccacAcaaacccctccattctgaca							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	ACAA	ACAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:120529632_120529635delACAA	ENST00000256646.2	-	5	1041_1044	c.822_825delTTGT	c.(820-825)gtttgtfs	p.VC274fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	274	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCATCCACACAAACCCCTCCAT	0.471			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.275_276del		Pindel,Atlas-Indel	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	348	.	0			c.823_826del						PASS	.																																			SO:0001589	frameshift_variant	4853	exon5	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	.	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.822_825delTTGT	1.37:g.120529632_120529635delACAA	ENSP00000256646:p.Val274fs	Somatic	69	.	.		WXS	Illumina HiSeq	Phase_I	77	25	0.325	NM_024408	Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	CCDS908.1																																																																																			.	.	none		0.471	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		-	120529635	ACAA	-	120529632	7	5	20	1	0	1	0	1	0	0	0	0	10548	157	6	0	6710	0	NOTCH2	1	120529632	Frame_Shift_Del	DEL	ACAA	TCGA-FF-A7CX-01A-12D-A382-10	57567517	120529632	128720989	11	4723										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299805	145299805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tttgtccagcgagaaggcagAgatgaacattctagaaatca	10	7	2	4	rs61814629	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491				p.E285A		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	skin(2)	c.A854C						scavenged	.						9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406	exon6			AGGCAGAGATGAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala	Somatic	103	3	0.0291262		WXS	Illumina HiSeq	Phase_I	117	7	0.0598291	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG	A|0.999;G|0.001	.	weak		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	20	1	0	0	0	0	1	0	0	0	10193	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	24770173	145299805	103950816	12	4724										
FLG	2312	hgsc.bcm.edu	37	chr1	152276490	152276490	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tggtggtgggatccatgtctCtctcctgcacttgatcttgc	11	11	3	1	rs199933055		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:152276490C>T	ENST00000368799.1	-	3	10907	c.10872G>A	c.(10870-10872)gaG>gaA	p.E3624E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3624	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATGTCTCTCTCCTGCAC	0.547									Ichthyosis				c|||	1	0.000199681	0.0	0.0	5008	,	,		24918	0.0		0.0	False		,,,				2504	0.001				p.E3624E		Atlas-SNP	.											FLG,NS,carcinoma,-2,1	FLG	900	1	0			c.G10872A						scavenged	.						273	219	237					1																	152276490		2201	4296	6497	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATGTCTCTCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10872G>A	1.37:g.152276490C>T		Somatic	255	3	0.0117647		WXS	Illumina HiSeq	Phase_I	326	13	0.0398773	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			C|0.999;G|0.001	.	weak		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276490	C	T	152276490	2	4	20	1	0	0	0	0	0	0	0	1	5922	912	32	2		2	FLG	1	152276490	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	6976685	152276490	96974131	13	4725										
FLG	2312	hgsc.bcm.edu	37	chr1	152278049	152278049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	acgaatggtgtcctgaccgtAttgggatgctgagtgcctgg	15	8	0	2	rs2065958	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:152278049A>C	ENST00000368799.1	-	3	9348	c.9313T>G	c.(9313-9315)Tac>Gac	p.Y3105D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3105	Ser-rich.		Y -> D (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCGTATTGGGATGCT	0.597									Ichthyosis				C|||	866	0.172923	0.1589	0.1787	5008	,	,		11687	0.3294		0.0686	False		,,,				2504	0.1339				p.Y3105D		Atlas-SNP	.											FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.T9313G						scavenged	.						207	261	244					1																	152278049		1917	4215	6132	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GACCGTATTGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9313T>G	1.37:g.152278049A>C	ENSP00000357789:p.Tyr3105Asp	Somatic	6	5	0.833333		WXS	Illumina HiSeq	Phase_I	9	6	0.666667	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302611	0.10678	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	3.92	-5.83	0.02325	.	.	.	.	.	T	0.00241	0.0007	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	8	0.15066	T	0.55	.	6.4277	0.21778	0.1024:0.2853:0.5231:0.0891	rs41432453	3105	P20930	FILA_HUMAN	D	3105	ENSP00000357789:Y3105D	ENSP00000357789:Y3105D	Y	-	1	0	FLG	150544673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.179000	0.01259	-1.367000	0.02152	-0.383000	0.06682	TAC	A|0.173;C|0.827	0.827	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152278049	A	C	152278049	3	2	20	1	0	0	0	0	1	0	0	0	5922	449	16	5	2876	5	FLG	1	152278049	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	1559	152278049	96972572	14	4726										
KRTCAP2	80128	hgsc.bcm.edu	37	chr1	155145757	155145757	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caagaaaggcgagctgaaccGggtgcggttagctatgcgca	15	9	0	2	rs551900242		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:155145757G>A	ENST00000334634.4	+	0	0				TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000543729.1_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000368385.4_5'Flank|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000392451.2_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_5'Flank|KRTCAP2_ENST00000295682.4_Missense_Mutation_p.R8W	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							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)			GAGCTGAACCGGGTGCGGTTA	0.637											OREG0013854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R8W		Atlas-SNP	.											.	KRTCAP2	15	.	0			c.C22T						PASS	.						35	33	34					1																	155145757		2203	4300	6503	SO:0001631	upstream_gene_variant	200185	exon1			TGAACCGGGTGCG		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		1.37:g.155145757G>A	Exception_encountered	Somatic	98	0	0	1768	WXS	Illumina HiSeq	Phase_I	92	83	0.902174	NM_173852	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150951	0.38021	.	.	ENSG00000163463	ENST00000295682	T	0.52295	0.67	5.7	0.335	0.15953	.	1.897460	0.02605	N	0.101423	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	T	0.21075	-1.0256	10	0.87932	D	0	8.0E-4	2.6567	0.05014	0.1567:0.2687:0.4403:0.1343	.	8;8	B3KNA5;Q8N6L1	.;KTAP2_HUMAN	W	8	ENSP00000295682:R8W	ENSP00000295682:R8W	R	-	1	2	KRTCAP2	153412381	0.169000	0.23002	0.002000	0.10522	0.000000	0.00434	-0.175000	0.09825	-0.102000	0.12197	-0.899000	0.02877	CGG	.	.	none		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		A	155145757	G	A	155145757	1	1	20	0	1	0	0	0	0	0	0	0	8578	1115	39	1		1	KRTCAP2	1	155145757	5'Flank	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	2867708	155145757	94104864	15	4727										
NEK7	140609	hgsc.bcm.edu	37	chr1	198288596	198288596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atccagagaagcgaccagacGtcacctatgtttatgacgta	9	10	1	3	rs114884409		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:198288596G>A	ENST00000367385.4	+	10	1195	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	NEK7_ENST00000538004.1_Missense_Mutation_p.V285I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V285I(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GCGACCAGACGTCACCTATGT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20820	0.001		0.0	False		,,,				2504	0.0				p.V285I		Atlas-SNP	.											NEK7,NS,carcinoma,0,1	NEK7	42	1	1	Substitution - Missense(1)	stomach(1)	c.G853A						PASS	.						109	99	102					1																	198288596		2203	4300	6503	SO:0001583	missense	140609	exon10			CCAGACGTCACCT	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.853G>A	1.37:g.198288596G>A	ENSP00000356355:p.Val285Ile	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	118	40	0.338983	NM_133494	A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	CCDS1394.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.544	-0.852228	0.02651	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.38887	1.11;1.11	5.54	3.25	0.37280	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101356	0.64402	N	0.000003	T	0.11836	0.0288	N	0.01109	-1.01	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25328	-1.0135	10	0.02654	T	1	.	7.8419	0.29403	0.7675:0.0:0.2325:0.0	.	285	Q8TDX7	NEK7_HUMAN	I	285	ENSP00000356355:V285I;ENSP00000444621:V285I	ENSP00000356355:V285I	V	+	1	0	NEK7	196555219	1.000000	0.71417	0.998000	0.56505	0.334000	0.28698	3.529000	0.53532	0.407000	0.25591	-0.312000	0.09012	GTC	G|0.999;A|0.001	0.001	strong		0.388	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		A	198288596	G	A	198288596	3	1	20	1	0	0	0	0	1	0	0	0	10329	1145	40	1	887	1	NEK7	1	198288596	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	43142839	198288596	50962025	16	4728										
FAM72A	729533	hgsc.bcm.edu	37	chr1	206145504	206145504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tccatgtagttcctgtcttcTttcctgcaacaacggacact	6	13	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:206145504T>C	ENST00000367128.3	+	3	1129	c.281T>C	c.(280-282)cTt>cCt	p.L94P	FAM72A_ENST00000341209.5_Missense_Mutation_p.L54P|FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Missense_Mutation_p.L94P			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	94						mitochondrion (GO:0005739)		p.L94P(1)		endometrium(2)	2						TCCTGTCTTCTTTCCTGCAAC	0.383																																					p.L94P		Atlas-SNP	.											FAM72A,NS,carcinoma,0,1	FAM72A	9	1	1	Substitution - Missense(1)	endometrium(1)	c.T281C						scavenged	.						244	204	216					1																	206145504		1568	3578	5146	SO:0001583	missense	729533	exon3			GTCTTCTTTCCTG	CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.281T>C	1.37:g.206145504T>C	ENSP00000356096:p.Leu94Pro	Somatic	848	5	0.00589623		WXS	Illumina HiSeq	Phase_I	921	14	0.0152009	NM_001123168	B2RV15|Q5TYM4	Missense_Mutation	SNP	ENST00000367128.3	37	CCDS41458.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785677	0.49997	.	.	ENSG00000196550	ENST00000367129;ENST00000367128;ENST00000341209	T;T;T	0.33654	1.4;1.4;1.4	3.07	3.07	0.35406	.	0.000000	0.64402	U	0.000003	T	0.40595	0.1123	M	0.65975	2.015	0.80722	D	1	D	0.54207	0.965	P	0.47981	0.563	T	0.31052	-0.9957	10	0.35671	T	0.21	.	10.6623	0.45708	0.0:0.0:0.0:1.0	.	94	Q5TYM5	FA72A_HUMAN	P	94;94;54	ENSP00000356097:L94P;ENSP00000356096:L94P;ENSP00000340661:L54P	ENSP00000340661:L54P	L	+	2	0	FAM72A	204312127	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.652000	0.67959	1.399000	0.46721	0.254000	0.18369	CTT	.	.	weak		0.383	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			C	206145504	T	C	206145504	3	2	20	1	0	0	0	0	1	0	0	0	5614	1609	56	3	291	3	FAM72A	1	206145504	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	7856908	206145504	43105117	17	4729										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525639	248525639	+	Missense_Mutation	SNP	A	A	T													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tttcaagctcctatttactcAtcctcctcaccatccacggg					rs34079073|rs76878172	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:248525639A>T	ENST00000366475.1	+	1	757	c.757A>T	c.(757-759)Atc>Ttc	p.I253F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CTATTTACTCATCCTCCTCAC	0.522																																					p.I253F		Atlas-SNP	.											OR2T4,brain,glioma,0,1	OR2T4	126	1	0			c.A757T						scavenged	.						94	74	81					1																	248525639		2024	3426	5450	SO:0001583	missense	127074	exon1			TTACTCATCCTCC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757A>T	1.37:g.248525639A>T	ENSP00000355431:p.Ile253Phe	Somatic	613	606	0.988581		WXS	Illumina HiSeq	Phase_I	597	574	0.961474	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250012	0.39797	.	.	ENSG00000196944	ENST00000366475	T	0.00414	7.52	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01835	0.0058	H	0.96142	3.775	0.40727	D	0.98271	D	0.89917	1.0	D	0.85130	0.997	T	0.25117	-1.0141	10	0.87932	D	0	.	11.1471	0.48436	1.0:0.0:0.0:0.0	.	253	Q8NH00	OR2T4_HUMAN	F	253	ENSP00000355431:I253F	ENSP00000355431:I253F	I	+	1	0	OR2T4	246592262	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	7.329000	0.79170	1.264000	0.44198	0.477000	0.44152	ATC	.	.	alt		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525639	A	T	248525639	3	4	20	1	0	0	0	0	1	0	0	0	11027	217	8	5	759	5	OR2T4	1	248525639	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	42380135	248525639	724982	18	4730	91	2								
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525640	248525640	+	Missense_Mutation	SNP	T	T	C													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttcaagctcctatttactcaTcctcctcaccatccacggga							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr1:248525640T>C	ENST00000366475.1	+	1	758	c.758T>C	c.(757-759)aTc>aCc	p.I253T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TATTTACTCATCCTCCTCACC	0.517																																					p.I253T		Atlas-SNP	.											OR2T4,brain,glioma,+1,1	OR2T4	126	1	0			c.T758C						scavenged	.						135	130	132					1																	248525640		2203	4300	6503	SO:0001583	missense	127074	exon1			TACTCATCCTCCT	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.758T>C	1.37:g.248525640T>C	ENSP00000355431:p.Ile253Thr	Somatic	12	2	0.166667		WXS	Illumina HiSeq	Phase_I	64	28	0.4375	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315398	0.23908	.	.	ENSG00000196944	ENST00000366475	T	0.00402	7.56	3.09	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01523	0.0049	H	0.95151	3.63	0.33277	D	0.561816	D	0.89917	1.0	D	0.85130	0.997	T	0.11299	-1.0593	10	0.87932	D	0	.	7.6506	0.28346	0.0:0.1075:0.0:0.8925	.	253	Q8NH00	OR2T4_HUMAN	T	253	ENSP00000355431:I253T	ENSP00000355431:I253T	I	+	2	0	OR2T4	246592263	1.000000	0.71417	0.061000	0.19648	0.014000	0.08584	4.666000	0.61554	0.295000	0.22570	-0.361000	0.07541	ATC	.	.	none		0.517	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525640	T	C	248525640	3	2	20	1	0	0	0	0	1	0	0	0	11027	1435	50	2	760	2	OR2T4	1	248525640	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	1	248525640	724981	19	4731	91	2								
PXDN	7837	hgsc.bcm.edu	37	chr2	1680761	1680761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gctctgcaggtgaagtacacGgtgttccccgaggtcacatc	12	12	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAAGTACACGGTGTTCCCCG	0.547																																					p.T262T		Atlas-SNP	.											.	PXDN	255	.	0			c.C786T						PASS	.						65	73	70					2																	1680761		1993	4173	6166	SO:0001819	synonymous_variant	7837	exon8			GTACACGGTGTTC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.786C>T	2.37:g.1680761G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	160	71	0.44375	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT	.	.	none		0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1680761	G	A	1680761	2	1	20	1	0	0	0	0	0	0	0	1	12847	1103	39	1		1	PXDN	2	1680761	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10		1680761	241518612	20	4732										
STRN	6801	hgsc.bcm.edu	37	chr2	37193498	37193498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggccgcccccgccgcagccgCcccgtcgccggccgcggcag	15	23	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:37193498C>T	ENST00000263918.4	-	1	117	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	STRN_ENST00000379213.2_Intron	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	37					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				gccgcagccgccccgtcgccg	0.751																																					p.A37T		Atlas-SNP	.											.	STRN	71	.	0			c.G109A						PASS	.						3	3	3					2																	37193498		1371	3032	4403	SO:0001583	missense	6801	exon1			CAGCCGCCCCGTC	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.109G>A	2.37:g.37193498C>T	ENSP00000263918:p.Ala37Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	27	0.415385	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261212	0.80246	.	.	ENSG00000115808	ENST00000263918	T	0.64618	-0.11	3.47	3.47	0.39725	.	0.423459	0.19848	N	0.104710	T	0.36771	0.0979	N	0.08118	0	0.80722	D	1	B	0.28470	0.213	B	0.21151	0.033	T	0.21724	-1.0237	10	0.25751	T	0.34	-0.3364	10.1491	0.42782	0.0:0.7949:0.2051:0.0	.	37	O43815	STRN_HUMAN	T	37	ENSP00000263918:A37T	ENSP00000263918:A37T	A	-	1	0	STRN	37047002	0.987000	0.35691	0.998000	0.56505	0.984000	0.73092	3.812000	0.55628	1.747000	0.51819	0.484000	0.47621	GCG	.	.	none		0.751	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			T	37193498	C	T	37193498	3	4	20	1	0	0	0	0	1	0	0	0	15328	739	26	2	2305	2	STRN	2	37193498	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	35512737	37193498	206005875	21	4733										
MAP4K3	8491	hgsc.bcm.edu	37	chr2	39552696	39552696	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgaaatcatggtaagtggaaTgatctggattatttacttta	9	4	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:39552696T>A	ENST00000263881.3	-	12	1205	c.881A>T	c.(880-882)cAt>cTt	p.H294L	MAP4K3_ENST00000437545.1_Missense_Mutation_p.H231L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.H294L|RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000536018.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	294					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTAAGTGGAATGATCTGGATT	0.353																																					p.H294L		Atlas-SNP	.											.	MAP4K3	109	.	0			c.A881T						PASS	.						107	105	106					2																	39552696		2203	4300	6503	SO:0001583	missense	8491	exon12			GTGGAATGATCTG	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.881A>T	2.37:g.39552696T>A	ENSP00000263881:p.His294Leu	Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	252	102	0.404762	NM_001270425	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375916	0.82682	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.25250	1.81;1.81;1.81	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.71581	2.175	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.12837	0.003;0.008	T	0.05920	-1.0856	9	.	.	.	.	16.2405	0.82405	0.0:0.0:0.0:1.0	.	294;294	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	L	294;231;294	ENSP00000263881:H294L;ENSP00000416958:H231L;ENSP00000345434:H294L	.	H	-	2	0	MAP4K3	39406200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.509000	0.81698	2.238000	0.73509	0.477000	0.44152	CAT	.	.	none		0.353	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39552696	T	A	39552696	3	1	20	1	0	0	0	0	1	0	0	0	9261	1464	51	5	1895	5	MAP4K3	2	39552696	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	2359198	39552696	203646677	22	4734										
ZFP36L2	678	hgsc.bcm.edu	37	chr2	43452183	43452183	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gaagctgaggctgtggtgcaActtgggccgcggctcccgcg	17	12	0	1	rs7933	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:43452183A>G	ENST00000282388.3	-	2	1053	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	254					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGGTGCAACTTGGGCCGC	0.761													G|||	2508	0.500799	0.8222	0.3804	5008	,	,		10273	0.2421		0.3718	False		,,,				2504	0.5511				p.L254L		Atlas-SNP	.											ZFP36L2,NS,carcinoma,0,2	ZFP36L2	56	2	0			c.T760C						scavenged	.	G		2974,1312		1071,832,240	10	19	16		760	4.4	1	2	dbSNP_52	16	3110,5334		626,1858,1738	no	coding-synonymous	ZFP36L2	NM_006887.4		1697,2690,1978	GG,GA,AA		36.8309,30.6113,47.7926		254/495	43452183	6084,6646	2143	4222	6365	SO:0001819	synonymous_variant	678	exon2			GGTGCAACTTGGG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.760T>C	2.37:g.43452183A>G		Somatic	2	1	0.5		WXS	Illumina HiSeq	Phase_I	9	5	0.555556	NM_006887	Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	CCDS1811.1																																																																																			A|0.568;G|0.432	0.432	strong		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		G	43452183	A	G	43452183	2	3	20	1	0	0	0	0	0	0	0	1	17644	40	2	2		2	ZFP36L2	2	43452183	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	3899487	43452183	199747190	23	4735										
C2orf86	51057	hgsc.bcm.edu	37	chr2	63661025	63661025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	acagttgatagctagatgtcGctctgttgtcttgtttattg	10	6	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:63661025G>A	ENST00000272321.7	-	9	1206	c.679C>T	c.(679-681)Cga>Tga	p.R227*	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Nonsense_Mutation_p.R227*|WDPCP_ENST00000409120.1_Nonsense_Mutation_p.R35*|WDPCP_ENST00000398544.3_Nonsense_Mutation_p.R68*|WDPCP_ENST00000409199.1_Nonsense_Mutation_p.R35*	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	227					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GCTAGATGTCGCTCTGTTGTC	0.393																																					p.R227X		Atlas-SNP	.											WDPCP,colon,carcinoma,+1,3	WDPCP	79	3	0			c.C679T						scavenged	.						73	70	71					2																	63661025		1885	4097	5982	SO:0001587	stop_gained	51057	exon9			GATGTCGCTCTGT		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.679C>T	2.37:g.63661025G>A	ENSP00000272321:p.Arg227*	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	163	64	0.392638	NM_015910	Q53RW4|Q7Z2Z3	Nonsense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	57	29.697367	0.99976	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	.	.	.	5.43	3.64	0.41730	.	0.062767	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8926	11.2324	0.48920	0.1489:0.0:0.8511:0.0	.	.	.	.	X	227;35;35;68;227	.	ENSP00000272321:R227X	R	-	1	2	WDPCP	63514529	1.000000	0.71417	0.134000	0.22075	0.811000	0.45836	3.598000	0.54038	0.674000	0.31244	0.563000	0.77884	CGA	.	.	none		0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		A	63661025	G	A	63661025	4	1	20	1	0	0	0	0	0	1	0	0	2201	1095	38	1	1601	1	C2orf86	2	63661025	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	20208842	63661025	179538348	24	4736										
LRRTM4	80059	hgsc.bcm.edu	37	chr2	77745577	77745577	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gggaattcatttgtctttcaGactctctggcctttttccgc	8	11	4	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:77745577G>T	ENST00000409093.1	-	3	1754	c.1418C>A	c.(1417-1419)tCt>tAt	p.S473Y	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S474Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S474Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S473Y|LRRTM4_ENST00000409088.3_Missense_Mutation_p.S473Y			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	473					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTCTTTCAGACTCTCTGGC	0.468																																					p.S473Y		Atlas-SNP	.											.	LRRTM4	334	.	0			c.C1418A						PASS	.						82	81	82					2																	77745577		1898	4120	6018	SO:0001583	missense	80059	exon3			CTTTCAGACTCTC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1418C>A	2.37:g.77745577G>T	ENSP00000386357:p.Ser473Tyr	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	141	43	0.304965	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492072	0.44352	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.68	5.68	0.88126	.	0.330675	0.33457	N	0.004881	T	0.75882	0.3910	L	0.43152	1.355	0.41973	D	0.990766	P;P;P	0.46395	0.877;0.811;0.877	B;P;P	0.48227	0.367;0.571;0.504	T	0.78800	-0.2062	10	0.87932	D	0	.	18.3564	0.90358	0.0:0.0:1.0:0.0	.	474;473;473	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Y	474;473;473;473;474	ENSP00000387228:S474Y;ENSP00000387297:S473Y;ENSP00000386357:S473Y;ENSP00000386236:S473Y;ENSP00000386286:S474Y	ENSP00000386236:S473Y	S	-	2	0	LRRTM4	77599085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.308000	0.72820	2.670000	0.90874	0.655000	0.94253	TCT	.	.	none		0.468	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77745577	G	T	77745577	3	4	20	1	0	0	0	0	1	0	0	0	9042	942	33	4	368	4	LRRTM4	2	77745577	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	14084552	77745577	165453796	25	4737										
TUBA3D	113457	hgsc.bcm.edu	37	chr2	132238015	132238015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atttgatggggccctgaatgTggacttgacggaattccaga	13	7	0	4			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:132238015T>A	ENST00000321253.6	+	4	856	c.749T>A	c.(748-750)gTg>gAg	p.V250E		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	250					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCTGAATGTGGACTTGACG	0.577																																					p.V250E	Ovarian(137;2059 2432 35543 39401)	Atlas-SNP	.											.	TUBA3D	60	.	0			c.T749A						PASS	.						82	116	105					2																	132238015		2022	4288	6310	SO:0001583	missense	113457	exon4			TGAATGTGGACTT	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.749T>A	2.37:g.132238015T>A	ENSP00000326042:p.Val250Glu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	140	62	0.442857	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	t	9.448	1.089784	0.20390	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.84944	-1.92	2.24	2.24	0.28232	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.41194	U	0.000924	D	0.93976	0.8071	H	0.98068	4.14	0.46774	D	0.999198	D	0.67145	0.996	D	0.74023	0.982	D	0.93074	0.6485	10	0.87932	D	0	.	8.0376	0.30502	0.0:0.0:0.0:1.0	.	250	Q13748	TBA3C_HUMAN	E	250	ENSP00000326042:V250E	ENSP00000326042:V250E	V	+	2	0	TUBA3D	131954485	1.000000	0.71417	0.967000	0.41034	0.146000	0.21551	6.744000	0.74854	1.023000	0.39654	0.163000	0.16589	GTG	.	.	none		0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132238015	T	A	132238015	3	1	20	1	0	0	0	0	1	0	0	0	16744	1696	59	5	763	5	TUBA3D	2	132238015	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	54492438	132238015	110961358	26	4738										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141571285	141571285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcattgactcgattacttctAaattaccaccatccaggttg	5	11	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:141571285A>G	ENST00000389484.3	-	32	6271	c.5300T>C	c.(5299-5301)tTa>tCa	p.L1767S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1767					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTACTTCTAAATTACCACC	0.353										TSP Lung(27;0.18)																											p.L1767S	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.T5300C						PASS	.						169	148	155					2																	141571285		2203	4299	6502	SO:0001583	missense	53353	exon32			ACTTCTAAATTAC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5300T>C	2.37:g.141571285A>G	ENSP00000374135:p.Leu1767Ser	Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	278	96	0.345324	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695623	0.68386	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.098626	0.40554	N	0.001061	D	0.90665	0.7072	L	0.39898	1.24	0.43971	D	0.996656	D	0.54047	0.964	P	0.49140	0.601	D	0.88943	0.3381	10	0.23891	T	0.37	.	16.1982	0.82046	1.0:0.0:0.0:0.0	.	1767	Q9NZR2	LRP1B_HUMAN	S	1767;1705	ENSP00000374135:L1767S	ENSP00000374135:L1767S	L	-	2	0	LRP1B	141287755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.282000	0.95840	2.226000	0.72624	0.533000	0.62120	TTA	.	.	none		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141571285	A	G	141571285	3	3	20	1	0	0	0	0	1	0	0	0	8955	372	13	2	8739	2	LRP1B	2	141571285	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	9333270	141571285	101628088	27	4739										
MBD5	55777	hgsc.bcm.edu	37	chr2	149226791	149226791	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggagtcatgtacaaagagttCagcattcagcttcaacctcc	8	11	4	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:149226791C>T	ENST00000407073.1	+	9	2276	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.Q427*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	427					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAAAGAGTTCAGCATTCAGC	0.498																																					p.Q427X		Atlas-SNP	.											.	MBD5	164	.	0			c.C1279T						PASS	.						113	110	111					2																	149226791		2203	4300	6503	SO:0001587	stop_gained	55777	exon9			AGAGTTCAGCATT	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1279C>T	2.37:g.149226791C>T	ENSP00000386049:p.Gln427*	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	130	51	0.392308	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	47	12.983514	0.99711	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.18	5.18	0.71444	.	0.230777	0.30658	N	0.009142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0931	19.0722	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	X	427	.	ENSP00000384672:Q427X	Q	+	1	0	MBD5	148943261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.384000	0.79751	2.595000	0.87683	0.655000	0.94253	CAG	.	.	none		0.498	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149226791	C	T	149226791	4	4	20	1	0	0	0	0	0	1	0	0	9347	827	29	2	1293	2	MBD5	2	149226791	Nonsense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	7655506	149226791	93972582	28	4740										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168100213	168100213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agggagatgtaagaacagcaCggtggatgtttgaaacacag	14	5	0	3	rs548985321		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:168100213C>T	ENST00000409195.1	+	9	2400	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R549W|XIRP2_ENST00000295237.9_Missense_Mutation_p.R771W|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	596					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R771W(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAACAGCACGGTGGATGTT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19204	0.0		0.0	False		,,,				2504	0.001				p.R771W		Atlas-SNP	.											XIRP2,colon,carcinoma,0,1	XIRP2	914	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2311T						PASS	.						72	67	69					2																	168100213		1863	4091	5954	SO:0001583	missense	129446	exon9			ACAGCACGGTGGA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2311C>T	2.37:g.168100213C>T	ENSP00000386840:p.Arg771Trp	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	150	68	0.453333	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296005	0.60086	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.39229	1.09;1.09;1.09	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.77486	2.375	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66492	-0.5910	10	0.87932	D	0	-10.5946	10.2698	0.43477	0.135:0.7957:0.0:0.0693	.	596;596;549	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	W	771;771;549	ENSP00000386840:R771W;ENSP00000295237:R771W;ENSP00000387255:R549W	ENSP00000295237:R771W	R	+	1	2	XIRP2	167808459	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.731000	0.38135	2.810000	0.96702	0.650000	0.86243	CGG	.	.	none		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100213	C	T	168100213	3	4	20	1	0	0	0	0	1	0	0	0	17427	527	19	1	2341	1	XIRP2	2	168100213	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	18873422	168100213	75099160	29	4741										
OSBPL6	114880	hgsc.bcm.edu	37	chr2	179255816	179255816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccaggtgaattattggaattCtaacatgaatgaagtccagg	10	6	1	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:179255816C>A	ENST00000190611.4	+	22	2694	c.2318C>A	c.(2317-2319)tCt>tAt	p.S773Y	OSBPL6_ENST00000392505.2_Missense_Mutation_p.S798Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S737Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S742Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S737Y|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S777Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	773					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TATTGGAATTCTAACATGAAT	0.428																																					p.S798Y		Atlas-SNP	.											OSBPL6,NS,carcinoma,-1,1	OSBPL6	178	1	0			c.C2393A						PASS	.						129	127	128					2																	179255816		2203	4300	6503	SO:0001583	missense	114880	exon23			GGAATTCTAACAT	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2318C>A	2.37:g.179255816C>A	ENSP00000190611:p.Ser773Tyr	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	158	75	0.474684	NM_001201480	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259546	0.80246	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	0.957;0.994;0.958;1.0;0.997	P;D;P;D;D	0.87578	0.905;0.963;0.867;0.998;0.973	T	0.67585	-0.5633	10	0.87932	D	0	-11.6467	18.8281	0.92127	0.0:1.0:0.0:0.0	.	742;777;737;798;773	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	Y	798;737;742;773;737;777	ENSP00000376293:S798Y;ENSP00000352713:S737Y;ENSP00000387248:S742Y;ENSP00000190611:S773Y;ENSP00000386885:S737Y;ENSP00000318723:S777Y	ENSP00000190611:S773Y	S	+	2	0	OSBPL6	178964062	1.000000	0.71417	0.983000	0.44433	0.698000	0.40448	7.625000	0.83145	2.514000	0.84764	0.462000	0.41574	TCT	.	.	none		0.428	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		A	179255816	C	A	179255816	3	1	20	1	0	0	0	0	1	0	0	0	11281	913	32	4	2518	4	OSBPL6	2	179255816	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	11155603	179255816	63943557	30	4742										
DNAJC10	54431	hgsc.bcm.edu	37	chr2	183627529	183627529	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atttctacgaaagagcaaagGtatgtccagactttcctctg	8	9	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:183627529G>A	ENST00000264065.7	+	22	2680		c.e22+1			NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGAGCAAAGGTATGTCCAGA	0.413																																					.	Pancreas(56;860 1183 25669 35822 48585)	Atlas-SNP	.											.	DNAJC10	76	.	0			c.2265+1G>A						PASS	.						116	113	114					2																	183627529		2203	4300	6503	SO:0001630	splice_region_variant	54431	exon22			GCAAAGGTATGTC		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2265+1G>A	2.37:g.183627529G>A		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	266	136	0.511278	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Splice_Site	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980875	0.34942	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5399	0.91024	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC10	183335774	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	7.235000	0.78143	2.816000	0.96949	0.563000	0.77884	.	.	.	none		0.413	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	Intron	A	183627529	G	A	183627529	5	1	20	1	0	0	0	0	0	0	1	0	4629	1275	44	2	2344	2	DNAJC10	2	183627529	Splice_Site	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4371713	183627529	59571844	31	4743										
NDUFS1	4719	hgsc.bcm.edu	37	chr2	207017231	207017231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttgctgctgtggcagttgttCgaactgaccatcaaagatat	10	8	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:207017231C>T	ENST00000233190.6	-	3	331	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	NDUFS1_ENST00000449699.1_Missense_Mutation_p.R22Q|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R22Q|NDUFS1_ENST00000455934.2_Missense_Mutation_p.R36Q|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000432169.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	22					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCAGTTGTTCGAACTGACCA	0.388																																					p.R36Q		Atlas-SNP	.											NDUFS1,NS,carcinoma,-1,3	NDUFS1	82	3	0			c.G107A						PASS	.						110	92	98					2																	207017231		2203	4300	6503	SO:0001583	missense	4719	exon3			GTTGTTCGAACTG		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.65G>A	2.37:g.207017231C>T	ENSP00000233190:p.Arg22Gln	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	209	84	0.401914	NM_001199984	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397368	0.83120	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	D;D;D;D;T	0.88664	-2.32;-2.41;-2.32;-2.32;-1.18	5.9	5.9	0.94986	.	0.318441	0.28332	N	0.015736	D	0.86138	0.5861	M	0.63169	1.94	0.80722	D	1	B;P;B	0.42993	0.063;0.797;0.028	B;B;B	0.26969	0.022;0.075;0.007	D	0.87780	0.2611	10	0.62326	D	0.03	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	22;36;22	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	Q	22;22;36;22;22	ENSP00000233190:R22Q;ENSP00000409766:R22Q;ENSP00000392709:R36Q;ENSP00000399912:R22Q;ENSP00000389413:R22Q	ENSP00000233190:R22Q	R	-	2	0	NDUFS1	206725476	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	6.841000	0.75374	2.793000	0.96121	0.563000	0.77884	CGA	.	.	none		0.388	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		T	207017231	C	T	207017231	3	4	20	1	0	0	0	0	1	0	0	0	10291	884	31	1	2186	1	NDUFS1	2	207017231	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	23389702	207017231	36182142	32	4744										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228125811	228125811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttcccaggtcccagtggtccCcccggagttcctggaagtcc	11	16	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:228125811C>T	ENST00000396578.3	+	20	1290	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	376	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGTGGTCCCCCCGGAGTTC	0.383																																					p.P376P		Atlas-SNP	.											.	COL4A3	293	.	0			c.C1128T						PASS	.						76	77	77					2																	228125811		1809	4076	5885	SO:0001819	synonymous_variant	1285	exon20			TGGTCCCCCCGGA		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1128C>T	2.37:g.228125811C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	CCDS42829.1																																																																																			.	.	none		0.383	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228125811	C	T	228125811	2	4	20	1	0	0	0	0	0	0	0	1	3691	610	22	2		2	COL4A3	2	228125811	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	21108580	228125811	15073562	33	4745										
SLC19A3	80704	hgsc.bcm.edu	37	chr2	228564154	228564154	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aaacaacagcagcagccaggTaatgatgaaactgatacctt	8	9	0	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:228564154T>G	ENST00000258403.3	-	3	348	c.277A>C	c.(277-279)Acc>Ccc	p.T93P	SLC19A3_ENST00000541617.1_Missense_Mutation_p.T89P|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	93					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AGCAGCCAGGTAATGATGAAA	0.522																																					p.T93P		Atlas-SNP	.											.	SLC19A3	62	.	0			c.A277C						PASS	.						154	153	153					2																	228564154		2203	4300	6503	SO:0001583	missense	80704	exon3			GCCAGGTAATGAT	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.277A>C	2.37:g.228564154T>G	ENSP00000258403:p.Thr93Pro	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	101	44	0.435644	NM_025243		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678458	0.68042	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80909	-1.43;-1.43;0.3	5.91	2.01	0.26516	Major facilitator superfamily domain, general substrate transporter (1);	0.282882	0.44483	D	0.000455	D	0.89553	0.6748	M	0.89904	3.07	0.42819	D	0.99398	P;D	0.64830	0.915;0.994	P;D	0.69142	0.812;0.962	D	0.88648	0.3180	10	0.56958	D	0.05	-16.2265	11.0935	0.48130	0.4754:0.0:0.0:0.5246	.	89;93	F5H2M8;Q9BZV2	.;S19A3_HUMAN	P	93;89;93	ENSP00000258403:T93P;ENSP00000445519:T89P;ENSP00000399001:T93P	ENSP00000258403:T93P	T	-	1	0	SLC19A3	228272398	0.421000	0.25465	0.038000	0.18304	0.965000	0.64279	2.170000	0.42443	0.088000	0.17205	0.533000	0.62120	ACC	.	.	none		0.522	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			G	228564154	T	G	228564154	3	3	20	1	0	0	0	0	1	0	0	0	14430	1638	57	5	1229	5	SLC19A3	2	228564154	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	438343	228564154	14635219	34	4746										
DNER	92737	hgsc.bcm.edu	37	chr2	230312065	230312065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gcatttgtagctggtgcccaCgctgcggcacgtgccatgag	14	12	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:230312065C>T	ENST00000341772.4	-	8	1587	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	485	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGGTGCCCACGCTGCGGCAC	0.552																																					p.V485M		Atlas-SNP	.											.	DNER	129	.	0			c.G1453A						PASS	.						41	38	39					2																	230312065		2202	4299	6501	SO:0001583	missense	92737	exon8			TGCCCACGCTGCG	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1453G>A	2.37:g.230312065C>T	ENSP00000345229:p.Val485Met	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	209	111	0.5311	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855442	0.51376	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87729	-2.29	4.94	2.97	0.34412	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.182021	0.48767	D	0.000169	D	0.84138	0.5406	N	0.16130	0.375	0.47994	D	0.999568	D	0.76494	0.999	D	0.66847	0.947	T	0.81052	-0.1107	10	0.31617	T	0.26	.	8.7086	0.34369	0.0:0.6322:0.2908:0.077	.	485	Q8NFT8	DNER_HUMAN	M	485;203	ENSP00000345229:V485M	ENSP00000345229:V485M	V	-	1	0	DNER	230020309	0.978000	0.34361	0.996000	0.52242	0.924000	0.55760	1.900000	0.39828	1.188000	0.43014	0.655000	0.94253	GTG	.	.	none		0.552	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		T	230312065	C	T	230312065	3	4	20	1	0	0	0	0	1	0	0	0	4667	536	19	1	784	1	DNER	2	230312065	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	1747911	230312065	12887308	35	4747										
DNAJB3	54578	hgsc.bcm.edu	37	chr2	234652351	234652351	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tgcagccgccctccgcccccGcctcgccatagcggtcatag	10	20	1	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:234652351G>A	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|DNAJB3_ENST00000449667.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CTCCGCCCCCGCCTCGCCATA	0.627																																					p.A71V		Atlas-SNP	.											.	.	.	.	0			c.C212T						PASS	.						97	108	105					2																	234652351		2007	4180	6187	SO:0001627	intron_variant	414061	exon1			GCCCCCGCCTCGC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23329G>A	2.37:g.234652351G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_001001394	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																			.	.	none		0.627	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		A	234652351	G	A	234652351	1	1	20	0	1	0	0	0	0	0	0	0	4621	1087	38	1		1	DNAJB3	2	234652351	Intron	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4340286	234652351	8547022	36	4748										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982131	240982131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agggccgtgggtgaagaggcAtggatgaaggactgtgggtg	21	4	0	3	rs79839275	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr2:240982131A>G	ENST00000408934.1	-	1	268	c.269T>C	c.(268-270)aTg>aCg	p.M90T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	90	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGATGAAGG	0.617													-|||	1342	0.267971	0.3094	0.2378	5008	,	,		13820	0.3591		0.2167	False		,,,				2504	0.1922				p.M90T		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)	c.T269C						scavenged	.	A	THR/MET	623,3545		160,303,1621	145	139	141		269	-3.6	0	2	dbSNP_131	141	921,7389		239,443,3473	no	missense	PRR21	NM_001080835.1	81	399,746,5094	GG,GA,AA		11.083,14.9472,12.3738	benign	90/390	240982131	1544,10934	2084	4155	6239	SO:0001583	missense	643905	exon1			AGAGGCATGGATG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.269T>C	2.37:g.240982131A>G	ENSP00000386166:p.Met90Thr	Somatic	58	10	0.172414		WXS	Illumina HiSeq	Phase_I	54	9	0.166667	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	573	0.2623626373626374	126	0.25609756097560976	81	0.22375690607734808	202	0.3531468531468531	164	0.21635883905013192	-	0.001	-3.069052	0.00036	0.149472	0.11083	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13196	2.61;2.61	1.79	-3.59	0.04583	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.10450	0.005	T	0.48103	-0.9064	8	0.21014	T	0.42	.	6.6332	0.22869	0.1723:0.4441:0.3836:0.0	.	90	Q8WXC7	PRR21_HUMAN	T	90	ENSP00000386166:M90T;ENSP00000418240:M90T	ENSP00000386166:M90T	M	-	2	0	PRR21	240630804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.360000	0.20250	-2.294000	0.00663	-0.489000	0.04712	ATG	A|0.737;G|0.263	0.263	strong		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982131	A	G	240982131	3	3	20	1	0	0	0	0	1	0	0	0	12592	217	8	2	903	2	PRR21	2	240982131	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	6329780	240982131	2217242	37	4749										
FGD5	152273	hgsc.bcm.edu	37	chr3	14861747	14861748	+	Frame_Shift_Ins	INS	-	-	G													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gcggaggagaaccccatggtINSgggggctttgtgtggccagt							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:14861747_14861748insG	ENST00000285046.5	+	1	1279_1280	c.1169_1170insG	c.(1168-1173)gtggggfs	p.VG390fs	FGD5_ENST00000543601.1_Frame_Shift_Ins_p.VG149fs	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	390					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AACCCCATGGTGGGGGCTTTGT	0.609																																					p.V390fs		Pindel	.											.	FGD5	248	.	0			c.1169_1170insG						PASS	.																																			SO:0001589	frameshift_variant	152273	exon1			.	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1174dupG	3.37:g.14861752_14861752dupG	ENSP00000285046:p.Val390fs	Somatic	109	.	.		WXS	Illumina HiSeq	Phase_I	102	30	0.294	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Frame_Shift_Ins	INS	ENST00000285046.5	37	CCDS46767.1																																																																																			.	.	none		0.609	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		G	14861748	-	G	14861747	7	5	20	1	0	1	1	0	0	0	0	0	5836	1696	59	0	1171	0	FGD5	3	14861747	Frame_Shift_Ins	INS	-	TCGA-FF-A7CX-01A-12D-A382-10		14861747	183160683	38	4750										
THRB	7068	hgsc.bcm.edu	37	chr3	24231773	24231773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	attcctactagcttccagtcGtgttctcggtctggacagtg	10	11	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:24231773G>A	ENST00000356447.4	-	4	359	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000396671.2_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	25	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTTCCAGTCGTGTTCTCGGT	0.493																																					p.H25H	Melanoma(21;896 1043 15021 37958)	Atlas-SNP	.											THRB,NS,lymphoid_neoplasm,0,1	THRB	52	1	0			c.C75T						scavenged	.						177	159	165					3																	24231773		2203	4300	6503	SO:0001819	synonymous_variant	7068	exon4			CCAGTCGTGTTCT		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.75C>T	3.37:g.24231773G>A		Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	221	4	0.0180995	NM_000461	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669381	0.14776	.	.	ENSG00000151090	ENST00000416811	.	.	.	5.93	2.09	0.27110	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.38566	D	0.949829	.	.	.	.	.	.	T	0.64236	-0.6455	5	0.87932	D	0	.	8.5522	0.33458	0.0713:0.5866:0.2416:0.1005	.	.	.	.	M	25	.	ENSP00000414401:T25M	T	-	2	0	THRB	24206777	0.992000	0.36948	0.664000	0.29753	0.990000	0.78478	0.216000	0.17585	0.095000	0.17434	-0.175000	0.13238	ACG	.	.	none		0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		A	24231773	G	A	24231773	2	1	20	1	0	0	0	0	0	0	0	1	15872	1136	40	1		1	THRB	3	24231773	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	9370026	24231773	173790657	39	4751										
MYD88	4615	hgsc.bcm.edu	37	chr3	38182292	38182292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctctgatgattacctgcagaGcaaggaatgtgacttccaga	10	9	1	5			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:38182292G>A	ENST00000495303.1	+	2	417	c.412G>A	c.(412-414)Gca>Aca	p.A138T	MYD88_ENST00000396334.3_Missense_Mutation_p.S243N|MYD88_ENST00000424893.1_Missense_Mutation_p.S198N|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_Missense_Mutation_p.A183T|MYD88_ENST00000417037.2_Missense_Mutation_p.S251N	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	Intermediate domain. {ECO:0000250}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.S243N(7)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TACCTGCAGAGCAAGGAATGT	0.552			Mis		ABC-DLBCL																																p.S251N		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	MYD88,NS,lymphoid_neoplasm,0,8	MYD88	900	8	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(7)	c.G752A						PASS	.						175	167	170					3																	38182292		2203	4300	6503	SO:0001583	missense	4615	exon4			TGCAGAGCAAGGA	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.412G>A	3.37:g.38182292G>A	ENSP00000417848:p.Ala138Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	53	0.427419	NM_001172567	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725497|4.725497	0.89298|0.89298	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000495303;ENST00000443433|ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	.|T;T;T;T	.|0.36878	.|1.23;1.23;1.23;1.23	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Toll/interleukin-1 receptor homology (TIR) domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63943|0.63943	0.2554|0.2554	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;P|D;D;D	0.45348|0.89917	0.856;0.7|0.999;1.0;0.999	B;B|D;D;D	0.33890|0.97110	0.172;0.172|0.999;0.999;1.0	T|T	0.63466|0.63466	-0.6631|-0.6631	7|9	0.72032|0.54805	D|T	0.01|0.06	-26.8793|-26.8793	19.2995|19.2995	0.94138|0.94138	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;183|185;230;219	B4DQ60;B4DQ72|Q99836-2;Q99836;B4E3D6	.;.|.;MYD88_HUMAN;.	T|N	138;183|251;243;198;250;219	.|ENSP00000401399:S251N;ENSP00000379625:S243N;ENSP00000389979:S198N;ENSP00000391753:S250N	ENSP00000390565:A183T|ENSP00000379625:S243N	A|S	+|+	1|2	0|0	MYD88|MYD88	38157296|38157296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	9.285000|9.285000	0.95894|0.95894	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		A	38182292	G	A	38182292	3	1	20	1	0	0	0	0	1	0	0	0	10023	971	34	2	766	2	MYD88	3	38182292	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	13950519	38182292	159840138	40	4752										
ZIC1	7545	hgsc.bcm.edu	37	chr3	147128137	147128137	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgctgcggccctgggccatCaccatcacccgggccacgtc	11	19	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:147128137C>A	ENST00000282928.4	+	1	967	c.238C>A	c.(238-240)Cac>Aac	p.H80N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	80	Poly-His.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCTGGGCCATCACCATCACCC	0.687																																					p.H80N		Atlas-SNP	.											.	ZIC1	141	.	0			c.C238A						PASS	.						13	16	15					3																	147128137		2147	4278	6425	SO:0001583	missense	7545	exon1			GGCCATCACCATC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.238C>A	3.37:g.147128137C>A	ENSP00000282928:p.His80Asn	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	14	0.259259	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700350	0.68501	.	.	ENSG00000152977	ENST00000282928	D	0.86497	-2.13	3.51	3.51	0.40186	.	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	L	0.53249	1.67	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	D	0.91653	0.5336	10	0.52906	T	0.07	.	15.2119	0.73230	0.0:1.0:0.0:0.0	.	80	Q15915	ZIC1_HUMAN	N	80	ENSP00000282928:H80N	ENSP00000282928:H80N	H	+	1	0	ZIC1	148610827	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	5.752000	0.68728	1.806000	0.52798	0.442000	0.29010	CAC	.	.	none		0.687	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		A	147128137	C	A	147128137	3	1	20	1	0	0	0	0	1	0	0	0	17675	826	29	4	240	4	ZIC1	3	147128137	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	108945845	147128137	50894293	41	4753										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151164755	151164755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcccaaagcgtctgaacagcGggatgttaactgtactattt	9	9	1	1	rs567335058		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:151164755G>T	ENST00000282466.3	-	4	3013	c.3014C>A	c.(3013-3015)cCg>cAg	p.P1005Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1005					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGAACAGCGGGATGTTAAC	0.488																																					p.P1005Q		Atlas-SNP	.											IGSF10,colon,carcinoma,0,1	IGSF10	279	1	0			c.C3014A						scavenged	.						82	82	82					3																	151164755		2203	4300	6503	SO:0001583	missense	285313	exon4			AACAGCGGGATGT	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3014C>A	3.37:g.151164755G>T	ENSP00000282466:p.Pro1005Gln	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	228	3	0.0131579	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457030	0.63401	.	.	ENSG00000152580	ENST00000282466	D	0.86366	-2.11	5.37	4.49	0.54785	.	0.141768	0.32459	N	0.006064	T	0.80969	0.4726	L	0.34521	1.04	0.09310	N	1	P	0.48589	0.912	B	0.39299	0.296	T	0.73642	-0.3918	10	0.48119	T	0.1	.	15.4317	0.75105	0.0:0.0:0.8596:0.1404	.	1005	Q6WRI0	IGS10_HUMAN	Q	1005	ENSP00000282466:P1005Q	ENSP00000282466:P1005Q	P	-	2	0	IGSF10	152647445	0.723000	0.28027	0.002000	0.10522	0.010000	0.07245	2.444000	0.44890	1.247000	0.43917	0.591000	0.81541	CCG	.	.	none		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151164755	G	T	151164755	3	4	20	1	0	0	0	0	1	0	0	0	7597	1116	39	4	4917	4	IGSF10	3	151164755	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4036618	151164755	46857675	42	4754										
GHSR	2693	hgsc.bcm.edu	37	chr3	172163205	172163205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggatttggaaaataaatatcGccctacgtggaaggggagcc	13	7	0	0	rs148371213		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr3:172163205G>A	ENST00000241256.2	-	2	889	c.847C>T	c.(847-849)Cga>Tga	p.R283*		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	283					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AATAAATATCGCCCTACGTGG	0.488																																					p.R283X	Esophageal Squamous(93;641 1401 20883 29581 34638)	Atlas-SNP	.											.	GHSR	104	.	0			c.C847T						PASS	.	G	stop/ARG	0,4406		0,0,2203	63	64	64		847	3.8	0.9	3	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	GHSR	NM_198407.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		283/367	172163205	2,13004	2203	4300	6503	SO:0001587	stop_gained	2693	exon2			AATATCGCCCTAC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.847C>T	3.37:g.172163205G>A	ENSP00000241256:p.Arg283*	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	41	0.488095	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Nonsense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290630	0.95546	0.0	2.33E-4	ENSG00000121853	ENST00000241256	.	.	.	5.64	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2887	14.1574	0.65426	0.0:0.0:0.6792:0.3208	.	.	.	.	X	283	.	ENSP00000241256:R283X	R	-	1	2	GHSR	173645899	1.000000	0.71417	0.886000	0.34754	0.789000	0.44602	3.165000	0.50778	0.843000	0.35070	0.650000	0.86243	CGA	G|1.000;A|0.000	0.000	weak		0.488	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		A	172163205	G	A	172163205	4	1	20	1	0	0	0	0	0	1	0	0	6375	1095	38	1	257	1	GHSR	3	172163205	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	20998450	172163205	25859225	43	4755										
KCTD8	386617	hgsc.bcm.edu	37	chr4	44450163	44450163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcgcgcagcagccgctccttCtcggggaagtgctccggcag	14	15	1	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr4:44450163C>T	ENST00000360029.3	-	1	661	c.378G>A	c.(376-378)gaG>gaA	p.E126E	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	126					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCCGCTCCTTCTCGGGGAAGT	0.617										HNSCC(17;0.042)																											p.E126E		Atlas-SNP	.											.	KCTD8	96	.	0			c.G378A						PASS	.						23	22	23					4																	44450163		2170	4255	6425	SO:0001819	synonymous_variant	386617	exon1			CTCCTTCTCGGGG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.378G>A	4.37:g.44450163C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	67	36	0.537313	NM_198353	A2RU39	Silent	SNP	ENST00000360029.3	37	CCDS3467.1																																																																																			.	.	none		0.617	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			T	44450163	C	T	44450163	2	4	20	1	0	0	0	0	0	0	0	1	8115	912	32	2		2	KCTD8	4	44450163	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		44450163	146704113	44	4756										
EPHA5	2044	hgsc.bcm.edu	37	chr4	66356412	66356412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	taacatttgagatggcattcCgaggagcagaggggggtcct	15	7	0	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr4:66356412C>T	ENST00000273854.3	-	5	1685	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.R362Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362Q|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATGGCATTCCGAGGAGCAGA	0.398										TSP Lung(17;0.13)																											p.R362Q		Atlas-SNP	.											.	EPHA5	315	.	0			c.G1085A						PASS	.						45	44	44					4																	66356412		2203	4300	6503	SO:0001583	missense	2044	exon5			GCATTCCGAGGAG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1085G>A	4.37:g.66356412C>T	ENSP00000273854:p.Arg362Gln	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450707	0.43531	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57273	0.41;0.41;0.41	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000052	T	0.68155	0.2970	L	0.53780	1.695	0.53688	D	0.999976	D;P;D;P	0.76494	0.999;0.659;0.998;0.568	D;B;D;B	0.67382	0.951;0.153;0.918;0.024	T	0.60352	-0.7280	10	0.26408	T	0.33	.	20.1859	0.98214	0.0:1.0:0.0:0.0	.	362;362;362;362	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	362	ENSP00000273854:R362Q;ENSP00000346899:R362Q;ENSP00000427638:R362Q	ENSP00000273854:R362Q	R	-	2	0	EPHA5	66039007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.058000	0.57463	2.777000	0.95525	0.591000	0.81541	CGG	.	.	none		0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66356412	C	T	66356412	3	4	20	1	0	0	0	0	1	0	0	0	5170	652	23	1	2084	1	EPHA5	4	66356412	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	21906249	66356412	124797864	45	4757										
THAP6	152815	hgsc.bcm.edu	37	chr4	76452235	76452235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aaattagatcatgtgatcggCgagctagaggatacaaagga	12	5	1	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr4:76452235C>T	ENST00000311638.3	+	5	548	c.480C>T	c.(478-480)ggC>ggT	p.G160G	THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Silent_p.G118G|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Silent_p.G160G|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000502620.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	160						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGTGATCGGCGAGCTAGAGG	0.353																																					p.G160G		Atlas-SNP	.											THAP6,NS,carcinoma,0,1	THAP6	14	1	0			c.C480T						PASS	.						70	70	70					4																	76452235		2203	4300	6503	SO:0001819	synonymous_variant	152815	exon5			GATCGGCGAGCTA	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"THAP (C2CH-type zinc finger) domain containing"	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.480C>T	4.37:g.76452235C>T		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	225	95	0.422222	NM_144721	B4E146|Q5HYJ7|Q5JPC6	Silent	SNP	ENST00000311638.3	37	CCDS3568.1																																																																																			.	.	none		0.353	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		T	76452235	C	T	76452235	2	4	20	1	0	0	0	0	0	0	0	1	15845	755	27	1		1	THAP6	4	76452235	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	10095823	76452235	114702041	46	4758										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23526712	23526712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agaacaggccagaaagtgaaTccagggaacacaggcaaatt	11	8	0	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:23526712T>C	ENST00000296682.3	+	11	1697	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	505					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAAGTGAATCCAGGGAACA	0.438										HNSCC(3;0.000094)																											p.N505N		Atlas-SNP	.											.	PRDM9	344	.	0			c.T1515C						PASS	.						78	76	77					5																	23526712		1987	4170	6157	SO:0001819	synonymous_variant	56979	exon11			AGTGAATCCAGGG	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1515T>C	5.37:g.23526712T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																			.	.	none		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		C	23526712	T	C	23526712	2	2	20	1	0	0	0	0	0	0	0	1	12463	1432	50	2		2	PRDM9	5	23526712	Silent	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10		23526712	157388548	47	4759										
SLCO6A1	133482	hgsc.bcm.edu	37	chr5	101724427	101724427	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agaaagccatttttgtcttgTtatatatccaacaacgtcct	5	9	1	1	rs199624995		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:101724427T>A	ENST00000506729.1	-	12	2153	c.1982A>T	c.(1981-1983)aAc>aTc	p.N661I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N408I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N661I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N408I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N599I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	661						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTTGTCTTGTTATATATCCA	0.289																																					p.N661I		Atlas-SNP	.											SLCO6A1,NS,carcinoma,0,1	SLCO6A1	153	1	0			c.A1982T						scavenged	.						73	71	72					5																	101724427		2200	4295	6495	SO:0001583	missense	133482	exon12			GTCTTGTTATATA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1982A>T	5.37:g.101724427T>A	ENSP00000421339:p.Asn661Ile	Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	350	4	0.0114286	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	10.44	1.350364	0.24512	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	D;D;D;T;T	0.81659	-1.52;-1.52;-1.52;0.24;0.24	5.06	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);	0.591665	0.17421	N	0.174822	D	0.88607	0.6482	M	0.82630	2.6	0.09310	N	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79784	0.982;0.986;0.993	T	0.79371	-0.1831	10	0.87932	D	0	.	8.4402	0.32810	0.0:0.0903:0.0:0.9097	.	599;408;661	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	661;661;599;408;408	ENSP00000421339:N661I;ENSP00000369135:N661I;ENSP00000373671:N599I;ENSP00000421990:N408I;ENSP00000369138:N408I	ENSP00000369135:N661I	N	-	2	0	SLCO6A1	101752326	0.927000	0.31430	0.003000	0.11579	0.001000	0.01503	1.421000	0.34815	0.938000	0.37419	0.528000	0.53228	AAC	T|1.000;A|0.000	0.000	strong		0.289	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101724427	T	A	101724427	3	1	20	1	0	0	0	0	1	0	0	0	14732	1725	60	5	185	5	SLCO6A1	5	101724427	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	78197715	101724427	79190833	48	4760										
SLCO6A1	133482	hgsc.bcm.edu	37	chr5	101834271	101834271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cacagcaggtgctgactaagCagcccaaaccacagggctgc	11	14	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:101834271C>T	ENST00000506729.1	-	1	449	c.278G>A	c.(277-279)tGc>tAc	p.C93Y	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C93Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C93Y|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C93Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C93Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	93	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCTGACTAAGCAGCCCAAACC	0.502																																					p.C93Y		Atlas-SNP	.											.	SLCO6A1	153	.	0			c.G278A						PASS	.						105	107	106					5																	101834271		2203	4300	6503	SO:0001583	missense	133482	exon1			ACTAAGCAGCCCA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.278G>A	5.37:g.101834271C>T	ENSP00000421339:p.Cys93Tyr	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	125	49	0.392	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871154	0.33069	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.47177	0.91;0.91;0.93;0.85;0.85	3.52	2.6	0.31112	.	0.609562	0.14883	N	0.292850	T	0.49115	0.1538	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.996	P;D;P	0.68192	0.904;0.956;0.804	T	0.33650	-0.9860	10	0.11794	T	0.64	.	8.6	0.33738	0.0:0.7635:0.2365:0.0	.	93;93;93	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	93	ENSP00000421339:C93Y;ENSP00000369135:C93Y;ENSP00000373671:C93Y;ENSP00000421990:C93Y;ENSP00000369138:C93Y	ENSP00000369135:C93Y	C	-	2	0	SLCO6A1	101862170	0.002000	0.14202	0.007000	0.13788	0.004000	0.04260	0.712000	0.25779	0.994000	0.38892	0.484000	0.47621	TGC	.	.	none		0.502	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101834271	C	T	101834271	3	4	20	1	0	0	0	0	1	0	0	0	14732	710	25	2	1933	2	SLCO6A1	5	101834271	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	109844	101834271	79080989	49	4761										
PCDHA3	56145	hgsc.bcm.edu	37	chr5	140180941	140180941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgcatcgcgcaggacctgggGctggagctggcggagctggt	19	11	0	0	rs201478898	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:140180941G>A	ENST00000522353.2	+	1	159	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G53G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTGGGGCTGGAGCTGG	0.637																																					p.G53G		Atlas-SNP	.											PCDHA3_ENST00000522353,NS,haematopoietic_neoplasm,0,2	PCDHA3	396	2	0			c.G159A						scavenged	.																																			SO:0001819	synonymous_variant	56145	exon1			CCTGGGGCTGGAG	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.159G>A	5.37:g.140180941G>A		Somatic	82	2	0.0243902		WXS	Illumina HiSeq	Phase_I	102	13	0.127451	NM_031497	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			G|0.926;A|0.074	0.074	strong		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140180941	G	A	140180941	2	1	20	1	0	0	0	0	0	0	0	1	11525	1190	42	2		2	PCDHA3	5	140180941	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	38346670	140180941	40734319	50	4762										
PCDHA6	56142	hgsc.bcm.edu	37	chr5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcgaccgcgaggagctgtgcGggcggagcgcggagtgcagc	20	11	0	0	rs150162226	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGC	0.577																																					p.G97R		Atlas-SNP	.											PCDHA6_ENST00000529310,NS,carcinoma,0,2	PCDHA6	442	2	0			c.G289C						scavenged	.						111	127	121					5																	140207965		2203	4291	6494	SO:0001583	missense	56142	exon1			CTGTGCGGGCGGA	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg	Somatic	104	5	0.0480769		WXS	Illumina HiSeq	Phase_I	123	16	0.130081	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG	G|0.921;C|0.079	0.079	strong		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140207965	G	C	140207965	3	2	20	1	0	0	0	0	1	0	0	0	11528	1116	39	4	291	4	PCDHA6	5	140207965	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	27024	140207965	40707295	51	4763										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140221065	140221065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cggatcgcgcaggacctgggGctggagctggcggagctggt	20	10	0	0	rs62384462	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:140221065G>A	ENST00000531613.1	+	1	159	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G53G|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTGGGGCTGGAGCTGG	0.647																																					p.G53G		Atlas-SNP	.											PCDHA8_ENST00000531613,caecum,carcinoma,0,2	PCDHA8	366	2	0			c.G159A						scavenged	.						38	48	44					5																	140221065		2201	4294	6495	SO:0001819	synonymous_variant	56140	exon1			CCTGGGGCTGGAG	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.159G>A	5.37:g.140221065G>A		Somatic	110	2	0.0181818		WXS	Illumina HiSeq	Phase_I	128	10	0.078125	NM_031856	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																			G|0.903;A|0.097	0.097	strong		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140221065	G	A	140221065	2	1	20	1	0	0	0	0	0	0	0	1	11530	1190	42	2		2	PCDHA8	5	140221065	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	13100	140221065	40694195	52	4764										
PCDH1	5097	hgsc.bcm.edu	37	chr5	141243763	141243763	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggggcagtgatatagggtgcGttgtcattctcgtccagcac	14	9	2	1	rs374090402		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:141243763G>C	ENST00000394536.3	-	3	2272	c.2133C>G	c.(2131-2133)aaC>aaG	p.N711K	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.N711K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.N689K|PCDH1_ENST00000456271.1_Missense_Mutation_p.N699K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	711	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TATAGGGTGCGTTGTCATTCT	0.567																																					p.N711K	Ovarian(132;1609 1739 4190 14731 45037)	Atlas-SNP	.											.	PCDH1	119	.	0			c.C2133G						PASS	.						146	130	135					5																	141243763		2203	4300	6503	SO:0001583	missense	5097	exon3			GGGTGCGTTGTCA	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2133C>G	5.37:g.141243763G>C	ENSP00000378043:p.Asn711Lys	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	60	17	0.283333	NM_032420	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	7.871	0.728137	0.15507	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31247	1.5;4.66;4.66;4.66;4.66	5.25	-8.9	0.00782	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.53938	D	0.000057	T	0.61135	0.2323	H	0.95437	3.67	0.44469	D	0.997404	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81540	-0.0886	10	0.87932	D	0	.	18.2689	0.90062	0.3802:0.0:0.6198:0.0	.	711;711	Q08174;Q08174-2	PCDH1_HUMAN;.	K	711;711;699;722;689	ENSP00000287008:N711K;ENSP00000378043:N711K;ENSP00000403497:N699K;ENSP00000350122:N722K;ENSP00000438825:N689K	ENSP00000287008:N711K	N	-	3	2	PCDH1	141223947	0.000000	0.05858	0.098000	0.21074	0.327000	0.28475	-1.247000	0.02893	-2.573000	0.00466	-1.884000	0.00543	AAC	.	.	alt		0.567	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		C	141243763	G	C	141243763	3	2	20	1	0	0	0	0	1	0	0	0	11506	1136	40	4	1676	4	PCDH1	5	141243763	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	1022698	141243763	39671497	53	4765										
CSNK1A1	1452	hgsc.bcm.edu	37	chr5	148930448	148930448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccaaatagatgtccccgaagGagccagacccgatcttccgt	9	14	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:148930448G>C	ENST00000377843.2	-	1	559	c.80C>G	c.(79-81)tCc>tGc	p.S27C	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S27C|CSNK1A1_ENST00000515435.1_5'Flank|CSNK1A1_ENST00000504676.1_5'Flank|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S27C|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.S27C	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCCCCGAAGGAGCCAGACCC	0.537																																					p.S27C	Colon(5;64 69 1309 10383)	Atlas-SNP	.											.	CSNK1A1	63	.	0			c.C80G						PASS	.						101	112	109					5																	148930448		2152	4284	6436	SO:0001583	missense	1452	exon1			CCGAAGGAGCCAG	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.80C>G	5.37:g.148930448G>C	ENSP00000367074:p.Ser27Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	95	90	0.947368	NM_001025105	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668650	0.88348	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.68531	0.3011	H	0.99312	4.51	0.80722	D	1	D;D;D	0.62365	0.989;0.974;0.991	P;P;P	0.61397	0.888;0.749;0.877	D	0.83643	0.0151	10	0.87932	D	0	.	18.6698	0.91507	0.0:0.0:1.0:0.0	.	27;27;27	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	C	27	ENSP00000261798:S27C;ENSP00000367074:S27C;ENSP00000421689:S27C;ENSP00000421268:S27C	ENSP00000261798:S27C	S	-	2	0	CSNK1A1	148910641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.596000	0.82721	2.634000	0.89283	0.561000	0.74099	TCC	.	.	none		0.537	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		C	148930448	G	C	148930448	3	2	20	1	0	0	0	0	1	0	0	0	3950	1174	41	4	1061	4	CSNK1A1	5	148930448	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	7686685	148930448	31984812	54	4766										
ZNF454	285676	hgsc.bcm.edu	37	chr5	178391738	178391738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttggatcaatggacaataaaGgaaagattcagtagcagtag	11	4	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr5:178391738G>T	ENST00000320129.3	+	5	636	c.333G>T	c.(331-333)aaG>aaT	p.K111N	ZNF454_ENST00000519564.1_Missense_Mutation_p.K111N	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GGACAATAAAGGAAAGATTCA	0.453																																					p.K111N		Atlas-SNP	.											.	ZNF454	99	.	0			c.G333T						PASS	.						66	65	66					5																	178391738		2203	4300	6503	SO:0001583	missense	285676	exon5			AATAAAGGAAAGA	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.333G>T	5.37:g.178391738G>T	ENSP00000326249:p.Lys111Asn	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	160	151	0.94375	NM_001178089	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	8.312	0.822243	0.16678	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.08008	3.14;3.14	4.94	4.08	0.47627	.	0.376195	0.19376	N	0.115794	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999996	P	0.37781	0.608	B	0.37943	0.261	T	0.41858	-0.9485	10	0.18710	T	0.47	-13.6803	8.7625	0.34683	0.101:0.0:0.899:0.0	.	111	Q8N9F8	ZN454_HUMAN	N	111	ENSP00000326249:K111N;ENSP00000430354:K111N	ENSP00000326249:K111N	K	+	3	2	ZNF454	178324344	0.074000	0.21230	0.230000	0.23976	0.066000	0.16364	0.745000	0.26259	1.304000	0.44892	0.650000	0.86243	AAG	.	.	none		0.453	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		T	178391738	G	T	178391738	3	4	20	1	0	0	0	0	1	0	0	0	17920	991	35	4	347	4	ZNF454	5	178391738	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	29461290	178391738	2523522	55	4767										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327915	16327916	+	In_Frame_Ins	INS	-	-	TGC													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gctgctgctgctgatgctgaINStgctgctgctgctgctgctg					rs11969612|rs369629396	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:16327915_16327916insTGC	ENST00000244769.4	-	8	1562_1563	c.626_627insGCA	c.(625-627)cat>caGCAt	p.208_209insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.208_209insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgctg	0.668																																					p.H209delinsQH		Atlas-Indel	.											ATXN1,colon,carcinoma,0,1	ATXN1	117	1	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_628insGCA						PASS	.																																			SO:0001652	inframe_insertion	6310	exon8			.	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626dupGCA	6.37:g.16327922_16327924dupTGC	ENSP00000244769:p.Gln209_Gln210dup	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	16	0.296296	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.	.	weak		0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327916	-	TGC	16327915	7	5	20	1	0	1	1	0	0	0	0	0	1209	330	12	0	1828	0	ATXN1	6	16327915	In_Frame_Ins	INS	-	TCGA-FF-A7CX-01A-12D-A382-10		16327915	154787152	56	4768	92	2								
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tgctgctgctgatgctgatgCtgctgctgctgctgctgctg					rs28555263	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442				p.Q208H		Atlas-SNP	.											ATXN1,rectum,carcinoma,0,1	ATXN1	117	1	0			c.G624T						scavenged	.						5	8	7					6																	16327918		1579	3505	5084	SO:0001583	missense	6310	exon7			CTGATGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His	Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	54	6	0.111111	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG	C|0.500;A|0.500	0.500	weak		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327918	C	A	16327918	3	1	20	1	0	0	0	0	1	0	0	0	1209	796	28	4	1831	4	ATXN1	6	16327918	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	3	16327918	154787149	57	4769	92	2								
HIST1H3B	8358	hgsc.bcm.edu	37	chr6	26031883	26031883	+	Frame_Shift_Del	DEL	C	C	-													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aaagtgactttacatttacgCtctttctccgcgaatgcggc							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:26031883delC	ENST00000244661.2	-	1	405	c.406delG	c.(406-408)gcgfs	p.A136fs		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	136					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACATTTACGCTCTTTCTCCG	0.448																																					p.A136fs		Pindel,Atlas-Indel	.											HIST1H3B,NS,lymphoid_neoplasm,-1,3	HIST1H3B	59	3	0			c.407delC						PASS	.						55	59	57					6																	26031883		2203	4300	6503	SO:0001589	frameshift_variant	8358	exon1			.	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.406delG	6.37:g.26031883delC	ENSP00000244661:p.Ala136fs	Somatic	85	.	.		WXS	Illumina HiSeq	Phase_I	95	35	0.368	NM_003537	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000244661.2	37	CCDS4573.1																																																																																			.	.	none		0.448	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		-	26031883	C	-	26031883	7	5	20	1	0	1	0	1	0	0	0	0	7156	797	28	0	8	0	HIST1H3B	6	26031883	Frame_Shift_Del	DEL	C	TCGA-FF-A7CX-01A-12D-A382-10	9703965	26031883	145083184	58	4770										
PRSS16	10279	hgsc.bcm.edu	37	chr6	27219672	27219672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caggcggagctgttgggggcGctgcaggcactggtgggagg	22	8	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:27219672G>A	ENST00000230582.3	+	8	876	c.861G>A	c.(859-861)gcG>gcA	p.A287A	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	287					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						TGTTGGGGGCGCTGCAGGCAC	0.701																																					p.A287A	NSCLC(178;1118 2105 17078 23587 44429)	Atlas-SNP	.											.	PRSS16	66	.	0			c.G861A						PASS	.						15	18	17					6																	27219672		2176	4276	6452	SO:0001819	synonymous_variant	10279	exon8			GGGGGCGCTGCAG	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.861G>A	6.37:g.27219672G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	142	63	0.443662	NM_005865	O75416	Silent	SNP	ENST00000230582.3	37	CCDS4623.1																																																																																			.	.	none		0.701	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			A	27219672	G	A	27219672	2	1	20	1	0	0	0	0	0	0	0	1	12616	1074	38	1		1	PRSS16	6	27219672	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	1187789	27219672	143895395	59	4771										
GABBR1	2550	hgsc.bcm.edu	37	chr6	29578720	29578720	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccaatccatttatctgttttGgaccaggaaagatcatcctt	6	10	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:29578720G>T	ENST00000377034.4	-	14	2024	c.1689C>A	c.(1687-1689)tcC>tcA	p.S563S	GABBR1_ENST00000377012.4_Silent_p.S446S|GABBR1_ENST00000377016.4_Silent_p.S501S|GABBR1_ENST00000355973.3_Silent_p.S446S|GABBR1_ENST00000376977.3_Silent_p.S563S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	563					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TATCTGTTTTGGACCAGGAAA	0.458																																					p.S563S		Atlas-SNP	.											.	GABBR1	95	.	0			c.C1689A						PASS	.						190	151	165					6																	29578720		1511	2709	4220	SO:0001819	synonymous_variant	2550	exon14			TGTTTTGGACCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1689C>A	6.37:g.29578720G>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	84	11	0.130952	NM_001470	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																			.	.	none		0.458	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			T	29578720	G	T	29578720	2	4	20	1	0	0	0	0	0	0	0	1	6155	1335	47	4		4	GABBR1	6	29578720	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	2359048	29578720	141536347	60	4772										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954870	30954870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gccaccaactctgagtccagTacgacctccagtggggccaa	10	15	1	1	rs9262377		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:30954870T>C	ENST00000376296.3	+	2	1159	c.918T>C	c.(916-918)agT>agC	p.S306S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	306	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTGAGTCCAGTACGACCTCCA	0.597																																					p.S306S		Atlas-SNP	.											MUC21,rectum,carcinoma,0,1	MUC21	98	1	0			c.T918C						scavenged	.						171	164	167					6																	30954870		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			GTCCAGTACGACC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.918T>C	6.37:g.30954870T>C		Somatic	30	1	0.0333333		WXS	Illumina HiSeq	Phase_I	45	5	0.111111	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																			.	.	weak		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954870	T	C	30954870	2	2	20	1	0	0	0	0	0	0	0	1	9977	1635	57	2		2	MUC21	6	30954870	Silent	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	1376150	30954870	140160197	61	4773										
ANKS1A	23294	hgsc.bcm.edu	37	chr6	34957033	34957033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccacctccagcaaagccaccGcccgatgaagaggaagaaga	10	14	0	4			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:34957033G>A	ENST00000360359.3	+	9	1380	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	414					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.P414P(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAAGCCACCGCCCGATGAAG	0.413																																					p.P414P		Atlas-SNP	.											ANKS1A,NS,carcinoma,0,1	ANKS1A	123	1	1	Substitution - coding silent(1)	lung(1)	c.G1242A						PASS	.						163	160	161					6																	34957033		2203	4300	6503	SO:0001819	synonymous_variant	23294	exon9			GCCACCGCCCGAT	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1242G>A	6.37:g.34957033G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	142	67	0.471831	NM_015245	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	CCDS4798.1																																																																																			.	.	none		0.413	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	34957033	G	A	34957033	2	1	20	1	0	0	0	0	0	0	0	1	688	1074	38	1		1	ANKS1A	6	34957033	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4002163	34957033	136158034	62	4774										
TFAP2B	7021	hgsc.bcm.edu	37	chr6	50791293	50791293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	taccaccagagccaggacccCtactcccacgtcaacgaccc	6	20	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:50791293C>A	ENST00000393655.3	+	2	424	c.255C>A	c.(253-255)ccC>ccA	p.P85P	TFAP2B_ENST00000263046.4_Silent_p.P94P|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	85	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCCAGGACCCCTACTCCCACG	0.687																																					p.P85P	Pancreas(116;1373 2332 5475 10752)	Atlas-SNP	.											.	TFAP2B	91	.	0			c.C255A						PASS	.						65	71	69					6																	50791293		2203	4300	6503	SO:0001819	synonymous_variant	7021	exon2			GGACCCCTACTCC	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.255C>A	6.37:g.50791293C>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	121	56	0.46281	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	CCDS4934.2																																																																																			.	.	none		0.687	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		A	50791293	C	A	50791293	2	1	20	1	0	0	0	0	0	0	0	1	15785	668	24	4		4	TFAP2B	6	50791293	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	15834260	50791293	120323774	63	4775										
CCNC	892	hgsc.bcm.edu	37	chr6	99998133	99998133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tgtcttcttggcccatgtccTgcacatactggagcaaaggt	10	11	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:99998133T>G	ENST00000520429.1	-	8	936	c.491A>C	c.(490-492)cAg>cCg	p.Q164P	CCNC_ENST00000520371.1_Missense_Mutation_p.Q164P|CCNC_ENST00000369220.4_Missense_Mutation_p.Q164P|CCNC_ENST00000518714.1_Missense_Mutation_p.Q164P|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000523985.1_Missense_Mutation_p.Q79P|CCNC_ENST00000523799.1_Missense_Mutation_p.Q79P	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	164					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GCCCATGTCCTGCACATACTG	0.338																																					p.Q164P	GBM(57;273 1020 40094 44454 49348)	Atlas-SNP	.											.	CCNC	23	.	0			c.A491C						PASS	.						141	118	126					6																	99998133		2203	4300	6503	SO:0001583	missense	892	exon8			ATGTCCTGCACAT		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.491A>C	6.37:g.99998133T>G	ENSP00000428982:p.Gln164Pro	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	83	67	0.807229	NM_005190	B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661964	0.67700	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.33654	1.84;1.83;1.83;1.42;1.4;1.42;1.83;1.44	5.63	5.63	0.86233	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.71920	2.185	0.80722	D	1	P;P	0.36171	0.541;0.541	B;B	0.30029	0.11;0.11	T	0.07481	-1.0770	9	.	.	.	-5.2956	16.1988	0.82053	0.0:0.0:0.0:1.0	.	164;164	Q7Z4L3;P24863	.;CCNC_HUMAN	P	164;164;164;79;110;79;164;79	ENSP00000428982:Q164P;ENSP00000358222:Q164P;ENSP00000430381:Q164P;ENSP00000430014:Q79P;ENSP00000430077:Q110P;ENSP00000430119:Q79P;ENSP00000430294:Q164P;ENSP00000427885:Q79P	.	Q	-	2	0	CCNC	100104854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	2.284000	0.76573	0.529000	0.55759	CAG	.	.	none		0.338	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		G	99998133	T	G	99998133	3	3	20	1	0	0	0	0	1	0	0	0	2915	1580	55	5	380	5	CCNC	6	99998133	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	49206840	99998133	71116934	64	4776										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138192658	138192659	+	Splice_Site	INS	-	-	GG													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttgtggcgctgaaaacgaacINSggtaagacttgttctgttgt					rs146004919		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:138192658_138192659insGG	ENST00000237289.4	+	2	360_361	c.294_295insGG	c.(295-297)ggt>GGggt	p.G99fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	99	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.G99fs*2(1)|p.?(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TGAAAACGAACGGTAAGACTTG	0.495			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.N98fs	GBM(130;153 1739 22295 28918 47987)	Pindel,Atlas-Indel	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	27	Whole gene deletion(25)|Insertion - Frameshift(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(27)	c.294_295insGG						PASS	.																																			SO:0001630	splice_region_variant	7128	exon2			.	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.295+1->GG	6.37:g.138192659_138192660dupGG		Somatic	46	.	.		WXS	Illumina HiSeq	Phase_I	18	10	0.556	NM_001270507	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Ins	INS	ENST00000237289.4	37	CCDS5187.1																																																																																			.	.	none		0.495	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		Frame_Shift_Ins	GG	138192659	-	GG	138192658	8	5	20	1	0	1	1	0	0	0	1	0	16271	550	19	0	296	0	TNFAIP3	6	138192658	Splice_Site	INS	-	TCGA-FF-A7CX-01A-12D-A382-10	38194525	138192658	32922409	65	4777										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627667	170627667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccacgtgtacaggccctgaaTccaggcgagaagttcccatg	11	13	0	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr6:170627667T>C	ENST00000476287.1	+	2	1297	c.1189T>C	c.(1189-1191)Tcc>Ccc	p.S397P	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.S420P|FAM120B_ENST00000540480.1_Missense_Mutation_p.S409P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	397					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G394fs*81(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCCCTGAATCCAGGCGAGA	0.517																																					p.S397P		Atlas-SNP	.											FAM120B,NS,carcinoma,-1,1	FAM120B	108	1	1	Deletion - Frameshift(1)	kidney(1)	c.T1189C						scavenged	.						178	185	183					6																	170627667		2203	4300	6503	SO:0001583	missense	84498	exon2			CCTGAATCCAGGC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1189T>C	6.37:g.170627667T>C	ENSP00000417970:p.Ser397Pro	Somatic	229	6	0.0262009		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919113	0.52546	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.09255	3.05;3.0;3.01	3.28	2.07	0.26955	.	1.388790	0.04318	N	0.350130	T	0.02767	0.0083	L	0.37507	1.11	0.09310	N	1	B;B	0.17268	0.011;0.021	B;B	0.17979	0.02;0.013	T	0.43130	-0.9410	10	0.17832	T	0.49	-3.6717	7.2869	0.26344	0.1971:0.0:0.0:0.8029	.	397;397	Q96EK7;F2Z2E1	F120B_HUMAN;.	P	409;420;397	ENSP00000444125:S409P;ENSP00000440125:S420P;ENSP00000417970:S397P	ENSP00000436640:S397P	S	+	1	0	FAM120B	170469592	0.003000	0.15002	0.001000	0.08648	0.679000	0.39708	0.780000	0.26760	0.593000	0.29745	0.533000	0.62120	TCC	.	.	none		0.517	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		C	170627667	T	C	170627667	3	2	20	1	0	0	0	0	1	0	0	0	5417	1435	50	2	1191	2	FAM120B	6	170627667	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	32435009	170627667	487400	66	4778										
CARD11	84433	hgsc.bcm.edu	37	chr7	2987283	2987283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cctgctcatcaatgaccttaCactgacgcaggtagggcgtg	11	12	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:2987283C>T	ENST00000396946.4	-	3	549	c.146G>A	c.(145-147)tGt>tAt	p.C49Y	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	49	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.C42Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AATGACCTTACACTGACGCAG	0.527			Mis		DLBCL																																p.C49Y		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	CARD11,colon,carcinoma,+1,2	CARD11	339	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G146A						scavenged	.						281	212	236					7																	2987283		2203	4300	6503	SO:0001583	missense	84433	exon3			ACCTTACACTGAC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.146G>A	7.37:g.2987283C>T	ENSP00000380150:p.Cys49Tyr	Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	227	54	0.237885	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807258	0.90623	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.21031	2.03;2.03	5.31	5.31	0.75309	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	T	0.55704	-0.8099	10	0.87932	D	0	-43.4909	19.0497	0.93038	0.0:1.0:0.0:0.0	.	49	Q9BXL7	CAR11_HUMAN	Y	49	ENSP00000380150:C49Y;ENSP00000348779:C49Y	ENSP00000348779:C49Y	C	-	2	0	CARD11	2953809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.267000	0.78462	2.516000	0.84829	0.556000	0.70494	TGT	.	.	none		0.527	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		T	2987283	C	T	2987283	3	4	20	1	0	0	0	0	1	0	0	0	2645	478	17	2	3410	2	CARD11	7	2987283	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		2987283	156151380	67	4779										
HOXA9	3205	hgsc.bcm.edu	37	chr7	27204938	27204938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgggctgaagtcggggtgctCggccagcgtcgccgcctgcc	17	15	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:27204938C>T	ENST00000343483.6	-	1	211	c.139G>A	c.(139-141)Gag>Aag	p.E47K	HOXA9_ENST00000396345.1_Missense_Mutation_p.E47K|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	47					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCGGGGTGCTCGGCCAGCGTC	0.731			T	"NUP98, MSI2"	AML*																																p.E47K		Atlas-SNP	.		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	.	HOXA9	20	.	0			c.G139A						PASS	.						8	9	9					7																	27204938		2092	4040	6132	SO:0001583	missense	3205	exon1			GGTGCTCGGCCAG		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.139G>A	7.37:g.27204938C>T	ENSP00000343619:p.Glu47Lys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	58	21	0.362069	NM_152739	O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406924	0.83230	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.93811	-3.29	5.46	4.58	0.56647	Hox9, N-terminal activation domain (1);	0.210905	0.32884	N	0.005532	D	0.96380	0.8819	M	0.87097	2.86	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	D	0.96715	0.9528	10	0.72032	D	0.01	.	14.1396	0.65311	0.0:0.9275:0.0:0.0725	.	47	P31269	HXA9_HUMAN	K	47;41;47	ENSP00000343619:E47K	ENSP00000242050:E41K	E	-	1	0	HOXA9	27171463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.325000	0.59234	1.308000	0.44962	0.655000	0.94253	GAG	.	.	none		0.731	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			T	27204938	C	T	27204938	3	4	20	1	0	0	0	0	1	0	0	0	7298	893	31	1	687	1	HOXA9	7	27204938	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	24217655	27204938	131933725	68	4780										
TFR2	7036	hgsc.bcm.edu	37	chr7	100226979	100226979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	catgcatccctctgggccccGatgacaacgtagtgatctgg	11	13	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:100226979G>A	ENST00000462107.1	-	11	1574	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	TFR2_ENST00000223051.3_Silent_p.I429I|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Missense_Mutation_p.R344W			Q9UP52	TFR2_HUMAN	transferrin receptor 2	429					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TCTGGGCCCCGATGACAACGT	0.612																																					p.I429I		Atlas-SNP	.											.	TFR2	53	.	0			c.C1287T						PASS	.						85	74	77					7																	100226979		2203	4300	6503	SO:0001819	synonymous_variant	7036	exon10			GGCCCCGATGACA	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1287C>T	7.37:g.100226979G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	33	22	0.666667	NM_003227	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635636	0.29068	.	.	ENSG00000106327	ENST00000431692	T	0.57595	0.39	4.39	-7.68	0.01268	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.25491	N	0.987645	.	.	.	.	.	.	T	0.59451	-0.7452	6	0.87932	D	0	-13.3063	10.2135	0.43156	0.7308:0.105:0.1641:0.0	.	.	.	.	W	344	ENSP00000413905:R344W	ENSP00000413905:R344W	R	-	1	2	TFR2	100064915	0.002000	0.14202	0.842000	0.33263	0.867000	0.49689	-1.543000	0.02194	-1.638000	0.01529	-0.291000	0.09656	CGG	.	.	none		0.612	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		A	100226979	G	A	100226979	2	1	20	1	0	0	0	0	0	0	0	1	15808	1048	37	1		1	TFR2	7	100226979	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	73022041	100226979	58911684	69	4781										
MUC17	140453	hgsc.bcm.edu	37	chr7	100679799	100679799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tataactgtcagaacaacacCggtggccagctctgcaatca	8	12	3	1	rs71525815		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:100679799C>T	ENST00000306151.4	+	3	5166	c.5102C>T	c.(5101-5103)cCg>cTg	p.P1701L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1701	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)					AGAACAACACCGGTGGCCAGC	0.478																																					p.P1701L		Atlas-SNP	.											MUC17,caecum,carcinoma,-1,1	MUC17	804	1	0			c.C5102T						scavenged	.						182	197	192					7																	100679799		2203	4300	6503	SO:0001583	missense	140453	exon3			CAACACCGGTGGC	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.5102C>T	7.37:g.100679799C>T	ENSP00000302716:p.Pro1701Leu	Somatic	66	3	0.0454545		WXS	Illumina HiSeq	Phase_I	81	3	0.037037	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.039	-0.679534	0.03353	.	.	ENSG00000169876	ENST00000306151	T	0.01963	4.53	0.932	-1.26	0.09376	.	.	.	.	.	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.48210	-0.9055	9	0.23302	T	0.38	.	3.8992	0.09152	0.0:0.4587:0.0:0.5413	.	1701	Q685J3	MUC17_HUMAN	L	1701	ENSP00000302716:P1701L	ENSP00000302716:P1701L	P	+	2	0	MUC17	100466519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.516000	0.02250	-0.455000	0.07054	-1.404000	0.01136	CCG	.	.	none		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679799	C	T	100679799	3	4	20	1	0	0	0	0	1	0	0	0	9974	652	23	1	5112	1	MUC17	7	100679799	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	452820	100679799	58458864	70	4782										
MUC17	140453	hgsc.bcm.edu	37	chr7	100680438	100680438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcctacaactgctgacggtaGcagcatgccaacctcaactc	7	15	1	1	rs112926140		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:100680438G>C	ENST00000306151.4	+	3	5805	c.5741G>C	c.(5740-5742)aGc>aCc	p.S1914T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	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)					GCTGACGGTAGCAGCATGCCA	0.493																																					p.S1914T		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+1,1	MUC17	804	1	0			c.G5741C						scavenged	.						249	250	250					7																	100680438		2203	4300	6503	SO:0001583	missense	140453	exon3			ACGGTAGCAGCAT	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.5741G>C	7.37:g.100680438G>C	ENSP00000302716:p.Ser1914Thr	Somatic	69	4	0.057971		WXS	Illumina HiSeq	Phase_I	57	3	0.0526316	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.074	-1.195664	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	1.2251	0.01932	0.1506:0.3181:0.2997:0.2316	.	1914	Q685J3	MUC17_HUMAN	T	1914	ENSP00000302716:S1914T	ENSP00000302716:S1914T	S	+	2	0	MUC17	100467158	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.876000	0.04201	-3.962000	0.00087	-1.848000	0.00571	AGC	A|0.001;G|0.999	.	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680438	G	C	100680438	3	2	20	1	0	0	0	0	1	0	0	0	9974	971	34	4	5751	4	MUC17	7	100680438	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	639	100680438	58458225	71	4783										
MUC17	140453	hgsc.bcm.edu	37	chr7	100684573	100684573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atgcctgtcagcaccacaacGgtggccagttctgaaacgag	11	12	2	1	rs144023476	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317				p.T3292T		Atlas-SNP	.											MUC17,NS,haematopoietic_neoplasm,0,1	MUC17	804	1	0			c.G9876A						scavenged	.	G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACAACGGTGGCC	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.9876G>A	7.37:g.100684573G>A		Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	87	5	0.0574713	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.984;A|0.016	0.016	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	20	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4135	100684573	58454090	72	4784										
MLL3	58508	hgsc.bcm.edu	37	chr7	151896389	151896389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gttccagattttgttggagcCgaggatgaactaagtagtgg	14	5	0	2	rs200269228		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr7:151896389C>T	ENST00000262189.6	-	27	4466	c.4248G>A	c.(4246-4248)tcG>tcA	p.S1416S	KMT2C_ENST00000355193.2_Silent_p.S1416S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1416					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTTGGAGCCGAGGATGAAC	0.333													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16515	0.0		0.0	False		,,,				2504	0.0				p.S1416S		Atlas-SNP	.											.	MLL3	1564	.	0			c.G4248A						PASS	.						72	71	71					7																	151896389		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon27			TGGAGCCGAGGAT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4248G>A	7.37:g.151896389C>T		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	198	79	0.39899	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			C|1.000;T|0.000	0.000	strong		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151896389	C	T	151896389	2	4	20	1	0	0	0	0	0	0	0	1	9622	639	23	1		1	MLL3	7	151896389	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	51211816	151896389	7242274	73	4785										
SLC7A2	6542	hgsc.bcm.edu	37	chr8	17409423	17409423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aaaaagcccccttcctgtagCgtttgaatatgtgggatggg	12	8	0	1	rs371734086		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr8:17409423C>T	ENST00000494857.1	+	7	1201	c.983C>T	c.(982-984)gCg>gTg	p.A328V	SLC7A2_ENST00000398090.3_Missense_Mutation_p.A368V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A328V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A368V|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A368V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	328					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTTCCTGTAGCGTTTGAATAT	0.498																																					p.A368V		Atlas-SNP	.											SLC7A2,NS,carcinoma,-1,1	SLC7A2	157	1	0			c.C1103T						scavenged	.						138	134	136					8																	17409423		2203	4300	6503	SO:0001583	missense	6542	exon6			CTGTAGCGTTTGA	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.983C>T	8.37:g.17409423C>T	ENSP00000419140:p.Ala328Val	Somatic	421	0	0		WXS	Illumina HiSeq	Phase_I	412	13	0.0315534	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227208	0.79576	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;P;D	0.91635	0.923;0.677;0.999	D	0.94705	0.7887	10	0.56958	D	0.05	.	19.2416	0.93887	0.0:1.0:0.0:0.0	.	368;368;328	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	V	328;328;368;368;368	ENSP00000419140:A328V;ENSP00000430464:A328V;ENSP00000419873:A368V;ENSP00000004531:A368V;ENSP00000381164:A368V	ENSP00000004531:A368V	A	+	2	0	SLC7A2	17453801	1.000000	0.71417	0.572000	0.28498	0.362000	0.29581	7.818000	0.86416	2.621000	0.88768	0.655000	0.94253	GCG	.	.	alt		0.498	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17409423	C	T	17409423	3	4	20	1	0	0	0	0	1	0	0	0	14697	768	27	1	1125	1	SLC7A2	8	17409423	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		17409423	128954599	74	4786										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77765319	77765319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cctcctcctcctcctcctccTccccccccacctcctccacc	0	30	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr8:77765319T>C	ENST00000521891.2	+	10	6610	c.6162T>C	c.(6160-6162)ccT>ccC	p.P2054P	ZFHX4_ENST00000455469.2_Silent_p.P2009P|ZFHX4_ENST00000050961.6_Silent_p.P2009P|ZFHX4_ENST00000518282.1_Silent_p.P2028P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2009					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)			ctcctcctcctccccccccac	0.592										HNSCC(33;0.089)																											p.P2054P		Atlas-SNP	.											ZFHX4,rectum,carcinoma,0,1	ZFHX4	878	1	0			c.T6162C						scavenged	.						3	3	3					8																	77765319		1385	3182	4567	SO:0001819	synonymous_variant	79776	exon10			TCCTCCTCCCCCC		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.6162T>C	8.37:g.77765319T>C		Somatic	69	37	0.536232		WXS	Illumina HiSeq	Phase_I	54	32	0.592593	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.	.	none		0.592	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77765319	T	C	77765319	2	2	20	1	0	0	0	0	0	0	0	1	17632	1538	54	3		3	ZFHX4	8	77765319	Silent	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	60355896	77765319	68598703	75	4787										
ARC	23237	hgsc.bcm.edu	37	chr8	143695095	143695095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgcccgggcagctcgccagCggctgggggcggggtgatgg	21	12	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr8:143695095C>T	ENST00000356613.2	-	1	1738	c.538G>A	c.(538-540)Gct>Act	p.A180T	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				AGCTCGCCAGCGGCTGGGGGC	0.736																																					p.A180T		Atlas-SNP	.											.	ARC	34	.	0			c.G538A						PASS	.						4	7	6					8																	143695095		1831	3772	5603	SO:0001583	missense	23237	exon1			CGCCAGCGGCTGG	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.538G>A	8.37:g.143695095C>T	ENSP00000349022:p.Ala180Thr	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	21	17	0.809524	NM_015193	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	c	2.551	-0.304065	0.05495	.	.	ENSG00000198576	ENST00000356613	T	0.30448	1.53	4.55	0.643	0.17770	.	0.623272	0.12914	N	0.428666	T	0.10852	0.0265	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34875	-0.9811	10	0.15066	T	0.55	.	5.5167	0.16910	0.0:0.5043:0.1484:0.3473	.	180	Q7LC44	ARC_HUMAN	T	180	ENSP00000349022:A180T	ENSP00000349022:A180T	A	-	1	0	ARC	143692097	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.311000	0.08124	0.043000	0.15746	-0.461000	0.05368	GCT	.	.	none		0.736	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			T	143695095	C	T	143695095	3	4	20	1	0	0	0	0	1	0	0	0	841	768	27	1	656	1	ARC	8	143695095	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	65929776	143695095	2668927	76	4788										
MAF1	84232	hgsc.bcm.edu	37	chr8	145160665	145160665	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctggagatgcccacatcattGgcaggtgaggcaggctgggg	17	9	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr8:145160665G>T	ENST00000322428.5	+	2	483	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C	KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.G27C|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000534585.1_Missense_Mutation_p.G27C	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	27					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACATCATTGGCAGGTGAGG	0.572																																					p.G27C		Atlas-SNP	.											.	MAF1	16	.	0			c.G79T						PASS	.						67	65	66					8																	145160665		2203	4300	6503	SO:0001583	missense	84232	exon2			ATCATTGGCAGGT		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.79G>T	8.37:g.145160665G>T	ENSP00000318604:p.Gly27Cys	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	49	43	0.877551	NM_032272	D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281555	0.59758	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	T;T;T	0.56103	0.59;0.48;0.59	4.94	4.94	0.65067	.	0.061031	0.64402	D	0.000004	T	0.69797	0.3151	M	0.88704	2.975	0.80722	D	1	D	0.55172	0.97	P	0.53861	0.736	T	0.76063	-0.3096	10	0.54805	T	0.06	-43.3794	13.6671	0.62403	0.0:0.0:1.0:0.0	.	27	Q9H063	MAF1_HUMAN	C	27	ENSP00000318604:G27C;ENSP00000433979:G27C;ENSP00000436720:G27C	ENSP00000318604:G27C	G	+	1	0	MAF1	145232653	1.000000	0.71417	0.998000	0.56505	0.301000	0.27625	5.450000	0.66626	2.285000	0.76669	0.462000	0.41574	GGC	.	.	none		0.572	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		T	145160665	G	T	145160665	3	4	20	1	0	0	0	0	1	0	0	0	9156	1348	47	4	81	4	MAF1	8	145160665	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	1465570	145160665	1203357	77	4789										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100071801	100071801	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tgaagaaggtggagactcctGaaggggaggtgatgtctccc	16	7	1	5			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr9:100071801G>A	ENST00000357054.1	+	17	1659	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	CCDC180_ENST00000529487.1_Missense_Mutation_p.E103K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E242K|CCDC180_ENST00000411667.2_Missense_Mutation_p.E103K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E103K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	242						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGAGACTCCTGAAGGGGAGGT	0.587																																					p.E103K		Atlas-SNP	.											.	.	.	.	0			c.G307A						PASS	.						90	76	81					9																	100071801		2203	4300	6503	SO:0001583	missense	0	exon3			ACTCCTGAAGGGG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.724G>A	9.37:g.100071801G>A	ENSP00000349562:p.Glu242Lys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	35	0.492958	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	11.03	1.520367	0.27211	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.19394	2.98;2.15;2.99;2.62;2.99	4.71	1.65	0.23941	.	0.386006	0.19087	N	0.123067	T	0.27134	0.0665	M	0.65975	2.015	0.09310	N	1	D;P;D;P	0.54207	0.965;0.884;0.965;0.884	P;P;P;P	0.58077	0.832;0.482;0.832;0.482	T	0.17992	-1.0351	10	0.07482	T	0.82	-4.6043	4.0123	0.09627	0.215:0.1986:0.5864:0.0	.	103;242;103;242	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	242;242;103;103;126;103	ENSP00000349562:E242K;ENSP00000378646:E242K;ENSP00000364348:E103K;ENSP00000414000:E103K;ENSP00000434727:E103K	ENSP00000349562:E242K	E	+	1	0	C9orf174	99111622	0.049000	0.20398	0.401000	0.26359	0.065000	0.16274	0.405000	0.21015	1.128000	0.42052	-0.258000	0.10820	GAA	.	.	none		0.587	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100071801	G	A	100071801	3	1	20	1	0	0	0	0	1	0	0	0	8240	1291	45	2	746	2	KIAA1529	9	100071801	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10		100071801	41141630	78	4790										
RGS3	5998	hgsc.bcm.edu	37	chr9	116346320	116346320	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggggcagagcagggctgctcGggagatgaggaggatgcaga	21	6	0	4			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr9:116346320G>T	ENST00000374140.2	+	21	2837	c.2628G>T	c.(2626-2628)tcG>tcT	p.S876S	RGS3_ENST00000462143.1_Silent_p.S197S|RGS3_ENST00000374134.3_Silent_p.S197S|RGS3_ENST00000343817.5_Silent_p.S595S|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Silent_p.S876S|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	876					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGCTGCTCGGGAGATgagg	0.657																																					p.S876S		Atlas-SNP	.											.	RGS3	251	.	0			c.G2628T						PASS	.						75	65	69					9																	116346320		2203	4299	6502	SO:0001819	synonymous_variant	5998	exon21			CTGCTCGGGAGAT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2628G>T	9.37:g.116346320G>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	74	22	0.297297	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																			.	.	none		0.657	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		T	116346320	G	T	116346320	2	4	20	1	0	0	0	0	0	0	0	1	13306	1103	39	4		4	RGS3	9	116346320	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	16274519	116346320	24867111	79	4791										
SH3GLB2	56904	hgsc.bcm.edu	37	chr9	131790419	131790419	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gcgtccgacgccagcttcttCatgttgaagtccatggcgtg	12	12	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr9:131790419C>T	ENST00000372564.3	-	1	160	c.15G>A	c.(13-15)atG>atA	p.M5I	SH3GLB2_ENST00000417224.1_Missense_Mutation_p.M5I|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.M5I|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.M5I|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.M5I	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	5	Membrane-binding amphipathic helix. {ECO:0000250}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CCAGCTTCTTCATGTTGAAGT	0.781																																					p.M5I		Atlas-SNP	.											.	SH3GLB2	32	.	0			c.G15A						PASS	.						5	4	5					9																	131790419		1641	3025	4666	SO:0001583	missense	56904	exon1			CTTCTTCATGTTG	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.15G>A	9.37:g.131790419C>T	ENSP00000361645:p.Met5Ile	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	41	17	0.414634	NM_020145	A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509061	0.64410	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.16324	2.35;2.35;2.37;2.36;2.38	4.19	3.29	0.37713	.	0.109396	0.64402	D	0.000007	T	0.14013	0.0339	L	0.36672	1.1	0.37175	D	0.903204	B;B	0.14438	0.01;0.003	B;B	0.15052	0.009;0.012	T	0.07693	-1.0759	10	0.51188	T	0.08	.	10.6936	0.45886	0.0:0.9034:0.0:0.0966	.	5;5	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	I	5	ENSP00000361645:M5I;ENSP00000361640:M5I;ENSP00000361634:M5I;ENSP00000402566:M5I;ENSP00000388282:M5I	ENSP00000361634:M5I	M	-	3	0	SH3GLB2	130830240	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.778000	0.38614	0.964000	0.38108	0.544000	0.68410	ATG	.	.	none		0.781	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			T	131790419	C	T	131790419	3	4	20	1	0	0	0	0	1	0	0	0	14254	826	29	2	1216	2	SH3GLB2	9	131790419	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	15444099	131790419	9423012	80	4792										
PLXDC2	84898	hgsc.bcm.edu	37	chr10	20432282	20432282	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	acagccacacagtacatagcAcctttaatggcaaatttcga	6	11	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:20432282A>T	ENST00000377252.4	+	5	1441	c.600A>T	c.(598-600)gcA>gcT	p.A200A	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.A151A	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	200					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTACATAGCACCTTTAATGG	0.358																																					p.A200A		Atlas-SNP	.											PLXDC2,NS,carcinoma,+1,2	PLXDC2	108	2	0			c.A600T						scavenged	.						173	163	166					10																	20432282		2203	4300	6503	SO:0001819	synonymous_variant	84898	exon5			CATAGCACCTTTA	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.600A>T	10.37:g.20432282A>T		Somatic	215	2	0.00930233		WXS	Illumina HiSeq	Phase_I	210	83	0.395238	NM_032812	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																			.	.	none		0.358	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		T	20432282	A	T	20432282	2	4	20	1	0	0	0	0	0	0	0	1	12118	146	6	5		5	PLXDC2	10	20432282	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10		20432282	115102465	81	4793										
NRP1	8829	hgsc.bcm.edu	37	chr10	33469014	33469014	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgtctgccttcatgcctccGaataagtactctgtgtattc	7	12	3	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:33469014G>T	ENST00000265371.4	-	18	3287	c.2762C>A	c.(2761-2763)tCg>tAg	p.S921*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.S904*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.S733*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.S921*			O14786	NRP1_HUMAN	neuropilin 1	921					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATGCCTCCGAATAAGTACT	0.443																																					p.S921X	Melanoma(104;886 1489 44640 45944 51153)	Atlas-SNP	.											NRP1,lower_third,carcinoma,+1,1	NRP1	126	1	0			c.C2762A						scavenged	.						273	264	267					10																	33469014		2203	4300	6503	SO:0001587	stop_gained	8829	exon17			GCCTCCGAATAAG	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2762C>A	10.37:g.33469014G>T	ENSP00000265371:p.Ser921*	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	269	5	0.0185874	NM_003873	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	37	6.612913	0.97705	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	.	.	.	5.57	5.57	0.84162	.	0.198840	0.45361	D	0.000372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0481	19.5579	0.95358	0.0:0.0:1.0:0.0	.	.	.	.	X	921;733;921;103;904	.	ENSP00000265371:S921X	S	-	2	0	NRP1	33509020	1.000000	0.71417	0.621000	0.29145	0.987000	0.75469	7.600000	0.82769	2.624000	0.88883	0.655000	0.94253	TCG	.	.	none		0.443	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			T	33469014	G	T	33469014	4	4	20	1	0	0	0	0	0	1	0	0	10660	1059	37	4	13	4	NRP1	10	33469014	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	13036732	33469014	102065733	82	4794										
SEC24C	9632	hgsc.bcm.edu	37	chr10	75526107	75526107	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	taacaatgtcaccttctacaGggagggtggggcagaagagt	14	7	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:75526107G>A	ENST00000339365.2	+	13	1769		c.e13-1		SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site|SEC24C_ENST00000345254.4_Splice_Site|SEC24C_ENST00000546025.1_Splice_Site	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACCTTCTACAGGGAGGGTGGG	0.498																																					.		Atlas-SNP	.											.	SEC24C	86	.	0			c.1608-1G>A						PASS	.						91	73	79					10																	75526107		2203	4300	6503	SO:0001630	splice_region_variant	9632	exon13			TCTACAGGGAGGG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1608-1G>A	10.37:g.75526107G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	85	30	0.352941	NM_004922	B4DZT4|Q8WV25	Splice_Site	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982734	0.74474	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24C	75196113	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	.	.	.	none		0.498	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Intron	A	75526107	G	A	75526107	5	1	20	1	0	0	0	0	0	0	1	0	13996	1014	35	2	1649	2	SEC24C	10	75526107	Splice_Site	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	42057093	75526107	60008640	83	4795										
ANXA11	311	hgsc.bcm.edu	37	chr10	81932570	81932570	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cagaccctcttacctggtgcAgctggtgggtagccacctgg	13	13	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:81932570A>T	ENST00000438331.1	-	4	530	c.48T>A	c.(46-48)gcT>gcA	p.A16A	ANXA11_ENST00000360615.4_Silent_p.A16A|ANXA11_ENST00000422982.3_Silent_p.A16A|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000535999.1_Silent_p.A16A|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000265447.4_Silent_p.A16A|ANXA11_ENST00000372231.3_Silent_p.A16A	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	16					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TACCTGGTGCAGCTGGTGGGT	0.592																																					p.A16A		Atlas-SNP	.											.	ANXA11	32	.	0			c.T48A						PASS	.						78	79	79					10																	81932570		2203	4300	6503	SO:0001819	synonymous_variant	311	exon3			TGGTGCAGCTGGT	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.48T>A	10.37:g.81932570A>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	6	0.130435	NM_145868	B4DVE7	Silent	SNP	ENST00000438331.1	37	CCDS7364.1																																																																																			.	.	none		0.592	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		T	81932570	A	T	81932570	2	4	20	1	0	0	0	0	0	0	0	1	716	175	7	5		5	ANXA11	10	81932570	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	6406463	81932570	53602177	84	4796										
CNNM1	26507	hgsc.bcm.edu	37	chr10	101090081	101090081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgccgggcttcgggggcaccGgggaagactacagcgaagag	18	11	0	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:101090081G>A	ENST00000356713.4	+	1	1226	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	CNNM1_ENST00000446890.1_Missense_Mutation_p.G242R|CNNM1_ENST00000370534.4_5'UTR|CNNM1_ENST00000370528.3_Missense_Mutation_p.G242R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	313	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGGGGGCACCGGGGAAGACTA	0.687																																					p.G313R		Atlas-SNP	.											CNNM1_ENST00000356713,NS,carcinoma,-1,1	CNNM1	101	1	0			c.G937A						PASS	.						7	11	10					10																	101090081		1994	4112	6106	SO:0001583	missense	26507	exon1			GGCACCGGGGAAG	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.937G>A	10.37:g.101090081G>A	ENSP00000349147:p.Gly313Arg	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	104	8	0.0769231	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610067	0.28712	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.88741	-2.42;-2.42;-2.42	4.33	3.4	0.38934	Domain of unknown function DUF21 (1);	.	.	.	.	D	0.89234	0.6657	L	0.29908	0.895	0.80722	D	1	P;D	0.76494	0.941;0.999	B;D	0.76071	0.232;0.987	D	0.85675	0.1297	9	0.22706	T	0.39	-21.3627	12.086	0.53698	0.0:0.0:0.8264:0.1736	.	313;313	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	R	313;242;242	ENSP00000349147:G313R;ENSP00000406492:G242R;ENSP00000359559:G242R	ENSP00000349147:G313R	G	+	1	0	CNNM1	101080071	0.799000	0.28903	0.429000	0.26710	0.155000	0.21991	0.917000	0.28665	1.001000	0.39076	0.462000	0.41574	GGG	.	.	none		0.687	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		A	101090081	G	A	101090081	3	1	20	1	0	0	0	0	1	0	0	0	3612	1116	39	1	939	1	CNNM1	10	101090081	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	19157511	101090081	34444666	85	4797										
GPR26	2849	hgsc.bcm.edu	37	chr10	125426000	125426002	+	In_Frame_Del	DEL	TGC	TGC	-													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gctgctgtccaacgcgctggTgctgctctgcctgctgcaca							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr10:125426000_125426002delTGC	ENST00000284674.1	+	1	130_132	c.77_79delTGC	c.(76-81)gtgctg>gtg	p.L28del		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	28					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AACGCGCTGGTGCTGCTCTGCCT	0.709																																					p.26_26del		Pindel,Atlas-Indel	.											.	GPR26	47	.	0			c.76_78del						PASS	.																																			SO:0001651	inframe_deletion	2849	exon1			.		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.77_79delTGC	10.37:g.125426003_125426005delTGC	ENSP00000284674:p.Leu28del	Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	70	24	0.343	NM_153442	Q2M2E2	In_Frame_Del	DEL	ENST00000284674.1	37	CCDS7636.1																																																																																			.	.	none		0.709	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			-	125426002	TGC	-	125426000	7	5	20	1	0	1	0	1	0	0	0	0	6684	1696	59	0	79	0	GPR26	10	125426000	In_Frame_Del	DEL	TGC	TCGA-FF-A7CX-01A-12D-A382-10	24335919	125426000	10108747	86	4798										
DCHS1	8642	hgsc.bcm.edu	37	chr11	6652558	6652558	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ataccagttagcgtgtacaaGatggtcccattctccccctc	7	14	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:6652558G>A	ENST00000299441.3	-	8	4167	c.3756C>T	c.(3754-3756)atC>atT	p.I1252I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1252	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGTGTACAAGATGGTCCCAT	0.592																																					p.I1252I		Atlas-SNP	.											.	DCHS1	277	.	0			c.C3756T						PASS	.						221	175	190					11																	6652558		2201	4296	6497	SO:0001819	synonymous_variant	8642	exon8			GTACAAGATGGTC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3756C>T	11.37:g.6652558G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	139	11	0.0791367	NM_003737	O15098	Silent	SNP	ENST00000299441.3	37	CCDS7771.1																																																																																			.	.	none		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6652558	G	A	6652558	2	1	20	1	0	0	0	0	0	0	0	1	4287	932	33	2		2	DCHS1	11	6652558	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10		6652558	128353958	87	4799										
MRVI1	10335	hgsc.bcm.edu	37	chr11	10655535	10655535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgttggccaggtttttgtcGgtttctccttctggtgaagt	12	8	2	1	rs373779712		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:10655535G>A	ENST00000436272.1	-	2	360	c.282C>T	c.(280-282)acC>acT	p.T94T	MRVI1_ENST00000527509.2_Silent_p.T12T|MRVI1_ENST00000421747.1_Silent_p.T94T|MRVI1_ENST00000541483.1_Silent_p.T103T|MRVI1_ENST00000423302.2_Silent_p.T103T|MRVI1_ENST00000552103.1_Silent_p.T12T|MRVI1_ENST00000558540.1_Intron|MRVI1_ENST00000424001.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000531107.1_Silent_p.T94T|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000547195.1_Silent_p.T12T|MRVI1_ENST00000534266.2_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	94					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGTTTTTGTCGGTTTCTCCTT	0.468																																					p.T103T		Atlas-SNP	.											.	MRVI1	113	.	0			c.C309T						PASS	.	G	,,,,,	1,3817		0,1,1908	82	79	80		282,36,,309,,309	-7.2	0	11		80	0,8256		0,0,4128	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,utr-5,coding-synonymous	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	,,,,,	0,1,6036	AA,AG,GG		0.0,0.0262,0.0083	,,,,,	94/905,12/822,,103/707,,103/913	10655535	1,12073	1909	4128	6037	SO:0001819	synonymous_variant	10335	exon3			TTTGTCGGTTTCT	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.282C>T	11.37:g.10655535G>A		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	202	74	0.366337	NM_001206880	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37																																																																																				.	.	weak		0.468	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		A	10655535	G	A	10655535	2	1	20	1	0	0	0	0	0	0	0	1	9853	1103	39	1		1	MRVI1	11	10655535	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4002977	10655535	124350981	88	4800										
MUC15	143662	hgsc.bcm.edu	37	chr11	26582712	26582712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aatcattcaaagttggattgTagtagctagaattcccaaaa	7	6	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:26582712T>C	ENST00000455601.2	-	4	1023	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.Y279C|MUC15_ENST00000436318.2_Missense_Mutation_p.Y329C|MUC15_ENST00000529533.1_Missense_Mutation_p.Y329C|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.Y279C	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	302					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGTTGGATTGTAGTAGCTAGA	0.383																																					p.Y329C		Atlas-SNP	.											.	MUC15	88	.	0			c.A986G						PASS	.						151	138	142					11																	26582712		2203	4300	6503	SO:0001583	missense	143662	exon5			GGATTGTAGTAGC	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.905A>G	11.37:g.26582712T>C	ENSP00000397339:p.Tyr302Cys	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	283	22	0.0777385	NM_001135091	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389236	0.61956	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.48201	0.86;0.82;0.87;0.82;0.87	5.43	4.23	0.50019	.	0.000000	0.45361	D	0.000370	T	0.55386	0.1917	L	0.32530	0.975	0.33656	D	0.609055	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.66614	-0.5879	10	0.62326	D	0.03	-5.9356	11.3819	0.49763	0.1354:0.0:0.0:0.8646	.	279;302;329	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	C	302;329;279;329;279	ENSP00000397339:Y302C;ENSP00000416753:Y329C;ENSP00000281268:Y279C;ENSP00000431983:Y329C;ENSP00000431945:Y279C	ENSP00000281268:Y279C	Y	-	2	0	MUC15	26539288	1.000000	0.71417	0.986000	0.45419	0.780000	0.44128	2.385000	0.44371	2.187000	0.69744	0.482000	0.46254	TAC	.	.	none		0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		C	26582712	T	C	26582712	3	2	20	1	0	0	0	0	1	0	0	0	9972	1638	57	2	103	2	MUC15	11	26582712	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	15927177	26582712	108423804	89	4801										
C11orf41	25758	hgsc.bcm.edu	37	chr11	33667420	33667420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agcctggcatccgcgggccaCgcaggccagagccggcacca	14	17	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:33667420C>T	ENST00000321505.4	+	16	4887	c.4707C>T	c.(4705-4707)caC>caT	p.H1569H	KIAA1549L_ENST00000389726.3_Silent_p.H1575H			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1569						integral component of membrane (GO:0016021)											CCGCGGGCCACGCAGGCCAGA	0.682																																					p.H1569H		Atlas-SNP	.											.	.	.	.	0			c.C4707T						PASS	.						21	26	24					11																	33667420		2111	4216	6327	SO:0001819	synonymous_variant	25758	exon16			GGGCCACGCAGGC	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4707C>T	11.37:g.33667420C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	128	64	0.5	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.	.	none		0.682	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33667420	C	T	33667420	2	4	20	1	0	0	0	0	0	0	0	1	1640	535	19	1		1	C11orf41	11	33667420	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	7084708	33667420	101339096	90	4802										
OR5I1	10798	hgsc.bcm.edu	37	chr11	55703506	55703506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggttacagatggcgacatagCgatcataggccatggcggcc	14	10	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:55703506C>A	ENST00000301532.3	-	1	370	c.371G>T	c.(370-372)cGc>cTc	p.R124L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	124					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCGACATAGCGATCATAGGC	0.433																																					p.R124L		Atlas-SNP	.											OR5I1,colon,carcinoma,0,3	OR5I1	110	3	0			c.G371T						scavenged	.						66	67	67					11																	55703506		2201	4293	6494	SO:0001583	missense	10798	exon1			ACATAGCGATCAT	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.371G>T	11.37:g.55703506C>A	ENSP00000301532:p.Arg124Leu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	107	2	0.0186916	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566154	0.27915	.	.	ENSG00000167825	ENST00000301532	T	0.77358	-1.09	4.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.139243	0.33534	N	0.004815	T	0.81422	0.4819	H	0.95574	3.69	0.34656	D	0.722219	B	0.33583	0.418	B	0.28916	0.096	D	0.84583	0.0662	10	0.72032	D	0.01	.	9.6572	0.39932	0.0:0.8266:0.0:0.1734	.	124	Q13606	OR5I1_HUMAN	L	124	ENSP00000301532:R124L	ENSP00000301532:R124L	R	-	2	0	OR5I1	55460082	0.173000	0.23056	0.003000	0.11579	0.108000	0.19459	4.333000	0.59285	0.599000	0.29845	-0.154000	0.13518	CGC	.	.	none		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703506	C	A	55703506	3	1	20	1	0	0	0	0	1	0	0	0	11164	768	27	4	576	4	OR5I1	11	55703506	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	22036086	55703506	79303010	91	4803										
SLC29A2	3177	hgsc.bcm.edu	37	chr11	66133453	66133453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gtcccagccagtccatgatgTtgaagaggaggaagcagcag	14	9	0	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:66133453T>C	ENST00000357440.2	-	10	1241	c.1013A>G	c.(1012-1014)aAc>aGc	p.N338S	SLC29A2_ENST00000546034.1_Missense_Mutation_p.N338S|SLC29A2_ENST00000311161.7_Silent_p.Q293Q|SLC29A2_ENST00000544554.1_Missense_Mutation_p.N338S	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	338					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCCATGATGTTGAAGAGGAG	0.572																																					p.N338S		Atlas-SNP	.											.	SLC29A2	24	.	0			c.A1013G						PASS	.						107	101	103					11																	66133453		2200	4295	6495	SO:0001583	missense	3177	exon10			ATGATGTTGAAGA	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1013A>G	11.37:g.66133453T>C	ENSP00000350024:p.Asn338Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	58	23	0.396552	NM_001532	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803190	0.90623	.	.	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.80738	-1.41;-1.41;-1.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.89435	0.3719	10	0.66056	D	0.02	-24.3104	13.6825	0.62493	0.0:0.0:0.0:1.0	.	338	Q14542	S29A2_HUMAN	S	338	ENSP00000350024:N338S;ENSP00000439456:N338S;ENSP00000440329:N338S	ENSP00000350024:N338S	N	-	2	0	SLC29A2	65890029	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	6.135000	0.71696	2.123000	0.65237	0.529000	0.55759	AAC	.	.	none		0.572	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		C	66133453	T	C	66133453	3	2	20	1	0	0	0	0	1	0	0	0	14535	1725	60	2	369	2	SLC29A2	11	66133453	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	10429947	66133453	68873063	92	4804										
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249125	71249125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggctgctgtggctgctctggAggctgtggctccggctgtgg	19	10	1	0	rs537752041|rs113379698|rs55848980	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																					p.G8G		Atlas-SNP	.											KRTAP5-8,rectum,carcinoma,0,2	KRTAP5-8	28	2	0			c.A24G						scavenged	.						47	66	60					11																	71249125		2189	4280	6469	SO:0001819	synonymous_variant	57830	exon1			CTCTGGAGGCTGT	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.24A>G	11.37:g.71249125A>G		Somatic	159	2	0.0125786		WXS	Illumina HiSeq	Phase_I	166	19	0.114458	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			A|0.500;G|0.500	0.500	weak		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249125	A	G	71249125	2	3	20	1	0	0	0	0	0	0	0	1	8567	291	11	3		3	KRTAP5-8	11	71249125	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	5115672	71249125	63757391	93	4805										
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249152	71249152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggctccggctgtgggggctgCggctctggctgtgggggatg	22	9	1	0	rs112809261	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:71249152C>T	ENST00000398534.3	+	1	82	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	17						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GTGGGGGCTGCGGCTCTGGCT	0.652																																					p.C17C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,+1,1	KRTAP5-8	28	1	0			c.C51T						PASS	.						55	75	68					11																	71249152		2195	4284	6479	SO:0001819	synonymous_variant	57830	exon1			GGGCTGCGGCTCT	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.51C>T	11.37:g.71249152C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	140	22	0.157143	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			C|0.896;T|0.104	0.104	strong		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249152	C	T	71249152	2	4	20	1	0	0	0	0	0	0	0	1	8567	776	27	1		1	KRTAP5-8	11	71249152	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	27	71249152	63757364	94	4806										
MTNR1B	4544	hgsc.bcm.edu	37	chr11	92714681	92714681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tctacccctacccgctaatcCtcgtggccatcttctatgac	5	17	3	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr11:92714681C>A	ENST00000257068.2	+	2	298	c.292C>A	c.(292-294)Ctc>Atc	p.L98I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	98					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCCGCTAATCCTCGTGGCCAT	0.567																																					p.L98I		Atlas-SNP	.											.	MTNR1B	75	.	0			c.C292A						PASS	.						217	213	214					11																	92714681		2201	4298	6499	SO:0001583	missense	4544	exon2			CTAATCCTCGTGG	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.292C>A	11.37:g.92714681C>A	ENSP00000257068:p.Leu98Ile	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	139	10	0.0719424	NM_005959		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856263	0.71834	.	.	ENSG00000134640	ENST00000257068	T	0.44083	0.93	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.64305	0.2586	M	0.74258	2.255	0.58432	D	0.999991	P	0.51351	0.944	D	0.70227	0.968	T	0.68322	-0.5439	10	0.52906	T	0.07	-25.9064	16.6059	0.84828	0.0:1.0:0.0:0.0	.	98	P49286	MTR1B_HUMAN	I	98	ENSP00000257068:L98I	ENSP00000257068:L98I	L	+	1	0	MTNR1B	92354329	1.000000	0.71417	0.824000	0.32777	0.966000	0.64601	5.183000	0.65065	2.220000	0.72140	0.491000	0.48974	CTC	.	.	none		0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92714681	C	A	92714681	3	1	20	1	0	0	0	0	1	0	0	0	9952	681	24	4	298	4	MTNR1B	11	92714681	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	21465529	92714681	42291835	95	4807										
ARID2	196528	hgsc.bcm.edu	37	chr12	46244016	46244016	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atgctccagtgactgtcattCaaagtaaagctccaattcct	6	11	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:46244016C>T	ENST00000334344.6	+	15	2282	c.2110C>T	c.(2110-2112)Caa>Taa	p.Q704*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q555*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q314*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	704					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACTGTCATTCAAAGTAAAGC	0.428			"N, S, F"		hepatocellular carcinoma																																p.Q704X		Atlas-SNP	.		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	ARID2,lower_third,carcinoma,0,1	ARID2	311	1	0			c.C2110T						PASS	.						143	138	139					12																	46244016		2203	4300	6503	SO:0001587	stop_gained	196528	exon15			GTCATTCAAAGTA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2110C>T	12.37:g.46244016C>T	ENSP00000335044:p.Gln704*	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	182	78	0.428571	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.047537	0.98627	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.79	5.79	0.91817	.	0.344788	0.32204	N	0.006435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.712	20.0413	0.97592	0.0:1.0:0.0:0.0	.	.	.	.	X	704;555;314	.	ENSP00000335044:Q704X	Q	+	1	0	ARID2	44530283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	2.751000	0.94390	0.650000	0.86243	CAA	.	.	none		0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46244016	C	T	46244016	4	4	20	1	0	0	0	0	0	1	0	0	915	827	29	2	2168	2	ARID2	12	46244016	Nonsense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		46244016	87607879	96	4808										
GNS	2799	hgsc.bcm.edu	37	chr12	65153012	65153012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caggagggcaggtggcggggGctgccccgccggagccgacc	20	14	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:65153012G>A	ENST00000258145.3	-	1	215	c.45C>T	c.(43-45)agC>agT	p.S15S	snoU13_ENST00000458789.1_RNA|GNS_ENST00000542058.1_Silent_p.S15S|RP11-629N8.3_ENST00000434563.3_RNA|GNS_ENST00000543646.1_Silent_p.S15S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	15					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GGTGGCGGGGGCTGCCCCGCC	0.751																																					p.S15S		Atlas-SNP	.											.	GNS	41	.	0			c.C45T						PASS	.						3	4	4					12																	65153012		1794	3465	5259	SO:0001819	synonymous_variant	2799	exon1			GCGGGGGCTGCCC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.45C>T	12.37:g.65153012G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	32	14	0.4375	NM_002076	B4DYH8|Q53F05	Silent	SNP	ENST00000258145.3	37	CCDS8970.1																																																																																			.	.	none		0.751	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			A	65153012	G	A	65153012	2	1	20	1	0	0	0	0	0	0	0	1	6550	1194	42	2		2	GNS	12	65153012	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	18908996	65153012	68698883	97	4809										
BTG1	694	hgsc.bcm.edu	37	chr12	92539174	92539174	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccctgctcacctgccagcagCtcctgcaggctctggctgaa	10	17	2	1	rs200623021		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:92539174C>G	ENST00000256015.3	-	1	499	c.138G>C	c.(136-138)gaG>gaC	p.E46D	C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	46					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.E46D(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGCCAGCAGCTCCTGCAGGC	0.701			T	MYC	BCLL																																p.E46D		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	BTG1,NS,lymphoid_neoplasm,0,1	BTG1	30	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G138C						PASS	.						29	32	31					12																	92539174		2201	4299	6500	SO:0001583	missense	694	exon1			CAGCAGCTCCTGC		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.138G>C	12.37:g.92539174C>G	ENSP00000256015:p.Glu46Asp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	132	68	0.515152	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062147	0.36373	.	.	ENSG00000133639	ENST00000256015	T	0.23552	1.9	3.6	1.62	0.23740	Anti-proliferative protein (3);	0.185807	0.46145	D	0.000307	T	0.18718	0.0449	L	0.39245	1.2	0.42552	D	0.993111	B	0.06786	0.001	B	0.09377	0.004	T	0.06972	-1.0797	10	0.30854	T	0.27	-8.7689	9.9123	0.41413	0.0:0.8212:0.0:0.1788	.	46	P62324	BTG1_HUMAN	D	46	ENSP00000256015:E46D	ENSP00000256015:E46D	E	-	3	2	BTG1	91063305	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.415000	0.34748	0.663000	0.31027	0.455000	0.32223	GAG	C|1.000;T|0.000	.	alt		0.701	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			G	92539174	C	G	92539174	3	3	20	1	0	0	0	0	1	0	0	0	1553	796	28	4	385	4	BTG1	12	92539174	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	27386162	92539174	41312721	98	4810										
HVCN1	84329	hgsc.bcm.edu	37	chr12	111089042	111089042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cattgatgatccgggccaccCgccacagccggagcagaatc	11	15	0	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:111089042C>T	ENST00000356742.5	-	5	1376	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	HVCN1_ENST00000439744.2_Missense_Mutation_p.R188Q|HVCN1_ENST00000242607.8_Missense_Mutation_p.R208Q|HVCN1_ENST00000548312.1_Missense_Mutation_p.R208Q			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	208					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCGGGCCACCCGCCACAGCCG	0.607																																					p.R208Q		Atlas-SNP	.											HVCN1,caecum,carcinoma,-1,2	HVCN1	38	2	0			c.G623A						PASS	.						64	54	57					12																	111089042		2203	4300	6503	SO:0001583	missense	84329	exon6			GCCACCCGCCACA	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.623G>A	12.37:g.111089042C>T	ENSP00000349181:p.Arg208Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	35	0.402299	NM_032369	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	37	6.074823	0.97262	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98591	1.0654	10	0.87932	D	0	-30.045	19.6266	0.95679	0.0:1.0:0.0:0.0	.	208;208	Q96D96;Q96D96-3	HVCN1_HUMAN;.	Q	208;208;208;188	ENSP00000449601:R208Q;ENSP00000242607:R208Q;ENSP00000349181:R208Q;ENSP00000412052:R188Q	ENSP00000242607:R208Q	R	-	2	0	HVCN1	109573425	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.792000	0.85828	2.648000	0.89879	0.556000	0.70494	CGG	.	.	none		0.607	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		T	111089042	C	T	111089042	3	4	20	1	0	0	0	0	1	0	0	0	7462	652	23	1	210	1	HVCN1	12	111089042	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	18549868	111089042	22762853	99	4811										
MAPKAPK5	8550	hgsc.bcm.edu	37	chr12	112321487	112321487	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggactatcccaaaggatatgCgaagaaagatcatgacaggc	11	8	1	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:112321487C>T	ENST00000551404.2	+	9	871	c.763C>T	c.(763-765)Cga>Tga	p.R255*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.R255*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						AAAGGATATGCGAAGAAAGAT	0.488																																					p.R255X		Atlas-SNP	.											MAPKAPK5_ENST00000202788,lymph_node,lymphoid_neoplasm,-1,1	MAPKAPK5	56	1	0			c.C763T						scavenged	.						172	164	167					12																	112321487		1975	4149	6124	SO:0001587	stop_gained	8550	exon9			GATATGCGAAGAA	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.763C>T	12.37:g.112321487C>T	ENSP00000449381:p.Arg255*	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_139078	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	ENST00000551404.2	37	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	42	9.679022	0.99237	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-13.503	13.2162	0.59861	0.2803:0.7197:0.0:0.0	.	.	.	.	X	255;255;255;22;255	.	ENSP00000202788:R255X	R	+	1	2	MAPKAPK5	110805870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.976000	0.49289	2.484000	0.83849	0.557000	0.71058	CGA	.	.	none		0.488	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		T	112321487	C	T	112321487	4	4	20	1	0	0	0	0	0	1	0	0	9291	760	27	1	797	1	MAPKAPK5	12	112321487	Nonsense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	1232445	112321487	21530408	100	4812										
C12orf52	84934	hgsc.bcm.edu	37	chr12	113624824	113624824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcaaggggcagcacccccacCctcacaccaaggaagaagaa	9	15	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr12:113624824C>T	ENST00000548278.1	+	3	965	c.273C>T	c.(271-273)acC>acT	p.T91T	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.T115T|DDX54_ENST00000306014.5_5'Flank|DDX54_ENST00000314045.7_5'Flank|C12orf52_ENST00000549621.1_Silent_p.T91T	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		91					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)	p.L92F(1)		large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCACCCCCACCCTCACACCAA	0.562																																					p.T91T		Atlas-SNP	.											.	C12orf52	19	.	1	Substitution - Missense(1)	lung(1)	c.C273T						PASS	.						35	39	37					12																	113624824		2197	4296	6493	SO:0001819	synonymous_variant	84934	exon3			CCCCACCCTCACA																												ENST00000548278.1:c.273C>T	12.37:g.113624824C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_032848	B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	CCDS9166.1																																																																																			.	.	none		0.562	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			T	113624824	C	T	113624824	2	4	20	1	0	0	0	0	0	0	0	1	1697	610	22	2		2	C12orf52	12	113624824	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	1303337	113624824	20227071	101	4813										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	374	3	0.00802139		WXS	Illumina HiSeq	Phase_I	454	10	0.0220264	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	20	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10		20056679	95113199	102	4814										
RNASEH2B	79621	hgsc.bcm.edu	37	chr13	51530597	51530597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggtaaaaaataaaaaaaaaaTtggaaaggtttgaaactttg	8	1	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr13:51530597T>A	ENST00000336617.3	+	11	1325	c.926T>A	c.(925-927)aTt>aAt	p.I309N	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	309					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAAAAAAAAATTGGAAAGGTT	0.313																																					p.I309N		Atlas-SNP	.											RNASEH2B,NS,carcinoma,0,2	RNASEH2B	26	2	0			c.T926A						scavenged	.						17	19	18					13																	51530597		2183	4279	6462	SO:0001583	missense	79621	exon11			AAAAAATTGGAAA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.926T>A	13.37:g.51530597T>A	ENSP00000337623:p.Ile309Asn	Somatic	334	1	0.00299401		WXS	Illumina HiSeq	Phase_I	429	7	0.016317	NM_024570	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	CCDS9425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.784|8.784	0.928909|0.928909	0.18131|0.18131	.|.	.|.	ENSG00000136104|ENSG00000136104	ENST00000336617|ENST00000539292	D|.	0.96716|.	-4.1|.	5.24|5.24	-0.506|-0.506	0.11989|0.11989	.|.	.|2.449670	.|0.02044	.|N	.|0.049521	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.19778|0.19778	-1.0295|-1.0295	9|7	0.36615|0.54805	T|T	0.2|0.06	26.5704|26.5704	3.18|3.18	0.06581|0.06581	0.3209:0.1761:0.0:0.503|0.3209:0.1761:0.0:0.503	.|.	309|.	Q5TBB1|.	RNH2B_HUMAN|.	N|M	309|307	ENSP00000337623:I309N|.	ENSP00000337623:I309N|ENSP00000441268:L307M	I|L	+|+	2|1	0|2	RNASEH2B|RNASEH2B	50428598|50428598	0.732000|0.732000	0.28121|0.28121	0.256000|0.256000	0.24389|0.24389	0.447000|0.447000	0.32167|0.32167	0.200000|0.200000	0.17257|0.17257	0.011000|0.011000	0.14865|0.14865	-0.256000|-0.256000	0.11100|0.11100	ATT|TTG	.	.	none		0.313	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		A	51530597	T	A	51530597	3	1	20	1	0	0	0	0	1	0	0	0	13413	1493	52	5	968	5	RNASEH2B	13	51530597	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	31473918	51530597	63639281	103	4815										
COL4A1	1282	hgsc.bcm.edu	37	chr13	110831690	110831690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gcctggtaccccaatgctccCcttctccccgggtgtgccag	10	18	1	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr13:110831690C>T	ENST00000375820.4	-	30	2393	c.2272G>A	c.(2272-2274)Ggg>Agg	p.G758R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	758	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAATGCTCCCCTTCTCCCCG	0.587																																					p.G758R		Atlas-SNP	.											.	COL4A1	372	.	0			c.G2272A						PASS	.						79	82	81					13																	110831690		2203	4300	6503	SO:0001583	missense	1282	exon30			TGCTCCCCTTCTC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2272G>A	13.37:g.110831690C>T	ENSP00000364979:p.Gly758Arg	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	72	68	0.944444	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078077	0.76528	.	.	ENSG00000187498	ENST00000375820	D	0.99353	-5.77	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97434	1.0017	10	0.87932	D	0	.	18.0343	0.89294	0.0:1.0:0.0:0.0	.	758	P02462	CO4A1_HUMAN	R	758	ENSP00000364979:G758R	ENSP00000364979:G758R	G	-	1	0	COL4A1	109629691	1.000000	0.71417	0.986000	0.45419	0.351000	0.29236	6.933000	0.75874	2.328000	0.79073	0.655000	0.94253	GGG	.	.	none		0.587	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110831690	C	T	110831690	3	4	20	1	0	0	0	0	1	0	0	0	3689	623	22	2	2829	2	COL4A1	13	110831690	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	59301093	110831690	4338188	104	4816										
SSTR1	6751	hgsc.bcm.edu	37	chr14	38679760	38679760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cacctgcacgtcccggatcaCgacgctctgagcccgggcca	11	18	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:38679760C>T	ENST00000267377.2	+	3	1783	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	389					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TCCCGGATCACGACGCTCTGA	0.657																																					p.T389M		Atlas-SNP	.											.	SSTR1	66	.	0			c.C1166T						PASS	.						20	21	20					14																	38679760		2201	4299	6500	SO:0001583	missense	6751	exon3			GGATCACGACGCT		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.1166C>T	14.37:g.38679760C>T	ENSP00000267377:p.Thr389Met	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_001049		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402583	0.42613	.	.	ENSG00000139874	ENST00000267377	T	0.71341	-0.56	4.97	3.01	0.34805	.	0.297808	0.23327	N	0.049396	T	0.53867	0.1823	N	0.22421	0.69	0.35543	D	0.803255	P	0.50066	0.931	B	0.37422	0.249	T	0.69510	-0.5126	10	0.87932	D	0	.	13.6077	0.62056	0.0:0.6722:0.3278:0.0	.	389	P30872	SSR1_HUMAN	M	389	ENSP00000267377:T389M	ENSP00000267377:T389M	T	+	2	0	SSTR1	37749511	0.997000	0.39634	0.873000	0.34254	0.617000	0.37484	3.465000	0.53064	1.290000	0.44636	0.561000	0.74099	ACG	.	.	none		0.657	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			T	38679760	C	T	38679760	3	4	20	1	0	0	0	0	1	0	0	0	15196	536	19	1	1168	1	SSTR1	14	38679760	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		38679760	68669780	105	4817										
SIX6	4990	hgsc.bcm.edu	37	chr14	60976600	60976600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccagcaaaaaacgtgagctcGcccaggcaaccggactgacc	10	15	0	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:60976600G>A	ENST00000327720.5	+	1	932	c.484G>A	c.(484-486)Gcc>Acc	p.A162T		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	162					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACGTGAGCTCGCCCAGGCAAC	0.597																																					p.A162T		Atlas-SNP	.											.	SIX6	27	.	0			c.G484A						PASS	.						48	42	44					14																	60976600		2201	4300	6501	SO:0001583	missense	4990	exon1			GAGCTCGCCCAGG	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.484G>A	14.37:g.60976600G>A	ENSP00000328596:p.Ala162Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_007374	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296643	0.95574	.	.	ENSG00000184302	ENST00000327720	D	0.98164	-4.76	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97712	1.0191	10	0.72032	D	0.01	.	18.3062	0.90182	0.0:0.0:1.0:0.0	.	162	O95475	SIX6_HUMAN	T	162	ENSP00000328596:A162T	ENSP00000328596:A162T	A	+	1	0	SIX6	60046353	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.657000	0.98554	2.804000	0.96469	0.462000	0.41574	GCC	.	.	none		0.597	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			A	60976600	G	A	60976600	3	1	20	1	0	0	0	0	1	0	0	0	14351	1087	38	1	486	1	SIX6	14	60976600	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	22296840	60976600	46372940	106	4818										
FNTB	2342	hgsc.bcm.edu	37	chr14	65520040	65520040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gatgtgctgccagtgccctgCgggggggcttctggataaac	16	10	1	0	rs374785351		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:65520040C>T	ENST00000246166.2	+	10	1274	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.A382V|FNTB_ENST00000447296.2_Missense_Mutation_p.A381V|FNTB_ENST00000542227.1_Missense_Mutation_p.A301V|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTT	0.597																																					p.A408V		Atlas-SNP	.											FNTB,rectum,carcinoma,-1,1	.	.	1	0			c.C1223T						PASS	.	C	,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	34	34	34		,1040,1223,902	5.3	0.1	14		34	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	FNTB,MAX,CHURC1-FNTB	NM_197957.2,NM_002028.3,NM_001202559.1,NM_001202558.1	,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign	,347/438,408/499,301/392	65520040	1,13005	2203	4300	6503	SO:0001583	missense	100529261	exon12			GCCCTGCGGGGGG		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1040C>T	14.37:g.65520040C>T	ENSP00000246166:p.Ala347Val	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_001202559	B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986392	0.35036	0.0	1.16E-4	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.31	5.31	0.75309	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.369639	0.31051	N	0.008345	T	0.19846	0.0477	N	0.15975	0.35	0.80722	D	1	B;B;P;B	0.42123	0.046;0.37;0.771;0.227	B;B;B;B	0.21151	0.011;0.016;0.027;0.033	T	0.07539	-1.0767	10	0.33141	T	0.24	-7.8543	12.9217	0.58237	0.1624:0.8376:0.0:0.0	.	350;301;381;347	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	V	301;382;381;103;347	ENSP00000443140:A301V;ENSP00000447121:A382V;ENSP00000406393:A381V;ENSP00000399362:A103V;ENSP00000246166:A347V	ENSP00000246166:A347V	A	+	2	0	FNTB;AL139022.1	64589793	0.055000	0.20627	0.094000	0.20943	0.797000	0.45037	2.346000	0.44027	2.767000	0.95098	0.561000	0.74099	GCG	.	.	weak		0.597	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		T	65520040	C	T	65520040	3	4	20	1	0	0	0	0	1	0	0	0	5978	768	27	1	1078	1	FNTB	14	65520040	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	4543440	65520040	41829500	107	4819										
C14orf118	55668	hgsc.bcm.edu	37	chr14	76620825	76620825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	acagcagaggcggcagcttcGgaaacgccgaggtcggaagc	16	11	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:76620825G>A	ENST00000261530.7	+	2	185	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.R40Q|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.R40Q|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.R40Q	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	40	Arg-rich.																CGGCAGCTTCGGAAACGCCGA	0.587																																					p.R40Q		Atlas-SNP	.											.	.	.	.	0			c.G119A						PASS	.						48	48	48					14																	76620825		2203	4300	6503	SO:0001583	missense	55668	exon2			AGCTTCGGAAACG	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.119G>A	14.37:g.76620825G>A	ENSP00000261530:p.Arg40Gln	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619242	0.96649	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.61392	0.19;0.18;0.11;0.19	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.81914	0.995;0.964;0.99	T	0.74928	-0.3497	10	0.66056	D	0.02	-16.1396	19.2547	0.93941	0.0:0.0:1.0:0.0	.	40;40;40	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	Q	40	ENSP00000451587:R40Q;ENSP00000323775:R40Q;ENSP00000261530:R40Q;ENSP00000450657:R40Q	ENSP00000261530:R40Q	R	+	2	0	C14orf118	75690578	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.378000	0.97191	2.553000	0.86117	0.561000	0.74099	CGG	.	.	none		0.587	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		A	76620825	G	A	76620825	3	1	20	1	0	0	0	0	1	0	0	0	1741	1116	39	1	121	1	C14orf118	14	76620825	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	11100785	76620825	30728715	108	4820										
EML1	2009	hgsc.bcm.edu	37	chr14	100402447	100402447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caacgggaggaagtacacgcGagtgggcaagtgctcggtaa	16	8	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:100402447G>A	ENST00000262233.6	+	18	2130	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	EML1_ENST00000327921.9_Missense_Mutation_p.R652Q|EML1_ENST00000334192.4_Missense_Mutation_p.R683Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	664	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAGTACACGCGAGTGGGCAAG	0.463																																					p.R683Q		Atlas-SNP	.											.	EML1	97	.	0			c.G2048A						PASS	.						103	100	101					14																	100402447		2203	4300	6503	SO:0001583	missense	2009	exon19			ACACGCGAGTGGG	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1991G>A	14.37:g.100402447G>A	ENSP00000262233:p.Arg664Gln	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	134	61	0.455224	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274587	0.59649	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.39406	1.08;1.08;1.08	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.92317	3.295	0.51767	D	0.999939	D;P;D	0.71674	0.998;0.94;0.979	P;P;P	0.57244	0.816;0.507;0.487	T	0.78881	-0.2029	10	0.87932	D	0	-16.2349	17.709	0.88316	0.0:0.0:1.0:0.0	.	652;664;683	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	Q	652;664;683;683	ENSP00000327384:R652Q;ENSP00000262233:R664Q;ENSP00000334314:R683Q	ENSP00000262233:R664Q	R	+	2	0	EML1	99472200	0.997000	0.39634	0.071000	0.20095	0.038000	0.13279	7.691000	0.84191	2.429000	0.82318	0.561000	0.74099	CGA	.	.	none		0.463	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100402447	G	A	100402447	3	1	20	1	0	0	0	0	1	0	0	0	5096	1058	37	1	2122	1	EML1	14	100402447	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	23781622	100402447	6947093	109	4821										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411852	105411852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgtacgacggcatcttgaaTttgggcattttgaacttgct	10	8	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:105411852T>C	ENST00000333244.5	-	7	10055	c.9936A>G	c.(9934-9936)aaA>aaG	p.K3312K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3312						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAATTTGGGCATTT	0.622																																					p.K3312K		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,1	AHNAK2	719	1	0			c.A9936G						scavenged	.						205	199	201					14																	105411852		2003	4164	6167	SO:0001819	synonymous_variant	113146	exon7			CTTGAATTTGGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9936A>G	14.37:g.105411852T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	149	3	0.0201342	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411852	T	C	105411852	2	2	20	1	0	0	0	0	0	0	0	1	415	1490	52	2		2	AHNAK2	14	105411852	Silent	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	5009405	105411852	1937688	110	4822										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416254	105416254	+	Missense_Mutation	SNP	G	G	A													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcggcgcagacacatccaccGaggcctcgatggacttgcct					rs386781100|rs201136817	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:105416254G>A	ENST00000333244.5	-	7	5653	c.5534C>T	c.(5533-5535)tCg>tTg	p.S1845L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1845						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGAT	0.602													.|||	21	0.00419329	0.0136	0.0014	5008	,	,		19151	0.001		0.001	False		,,,				2504	0.0				p.S1845L		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,+1,1	AHNAK2	719	1	0			c.C5534T						scavenged	.						178	216	203					14																	105416254		1935	4101	6036	SO:0001583	missense	113146	exon7			TCCACCGAGGCCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5534C>T	14.37:g.105416254G>A	ENSP00000353114:p.Ser1845Leu	Somatic	139	2	0.0143885		WXS	Illumina HiSeq	Phase_I	160	12	0.075	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	g	13.31	2.199950	0.38905	.	.	ENSG00000185567	ENST00000333244	T	0.00940	5.52	4.12	4.12	0.48240	.	.	.	.	.	T	0.00875	0.0029	M	0.88377	2.95	0.09310	N	1	P	0.39022	0.655	B	0.36719	0.231	T	0.19582	-1.0301	9	0.52906	T	0.07	-10.2489	13.9709	0.64240	0.0:0.0:1.0:0.0	.	1845	Q8IVF2	AHNK2_HUMAN	L	1845	ENSP00000353114:S1845L	ENSP00000353114:S1845L	S	-	2	0	AHNAK2	104487299	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	0.540000	0.23191	2.157000	0.67596	0.556000	0.70494	TCG	G|0.992;A|0.008	0.008	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416254	G	A	105416254	3	1	20	1	0	0	0	0	1	0	0	0	415	1059	37	1	11857	1	AHNAK2	14	105416254	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4402	105416254	1933286	111	4823	93	2								
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416255	105416255	+	Missense_Mutation	SNP	A	A	T													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cggcgcagacacatccaccgAggcctcgatggacttgcctg					rs386781100|rs544344402	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr14:105416255A>T	ENST00000333244.5	-	7	5652	c.5533T>A	c.(5533-5535)Tcg>Acg	p.S1845T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1845						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCGAGGCCTCGATG	0.607													.|||	12	0.00239617	0.0076	0.0014	5008	,	,		19055	0.0		0.001	False		,,,				2504	0.0				p.S1845T		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,+2,1	AHNAK2	719	1	0			c.T5533A						scavenged	.						178	216	204					14																	105416255		1933	4101	6034	SO:0001583	missense	113146	exon7			CCACCGAGGCCTC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5533T>A	14.37:g.105416255A>T	ENSP00000353114:p.Ser1845Thr	Somatic	139	2	0.0143885		WXS	Illumina HiSeq	Phase_I	160	12	0.075	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	9.486	1.099439	0.20552	.	.	ENSG00000185567	ENST00000333244	T	0.00932	5.53	4.12	0.296	0.15757	.	.	.	.	.	T	0.01421	0.0046	M	0.82630	2.6	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.48364	-0.9042	9	0.21540	T	0.41	-10.2489	1.8701	0.03207	0.3818:0.3625:0.0953:0.1604	.	1845	Q8IVF2	AHNK2_HUMAN	T	1845	ENSP00000353114:S1845T	ENSP00000353114:S1845T	S	-	1	0	AHNAK2	104487300	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.342000	0.07801	-0.096000	0.12329	-0.375000	0.07067	TCG	.	.	none		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105416255	A	T	105416255	3	4	20	1	0	0	0	0	1	0	0	0	415	304	11	5	11858	5	AHNAK2	14	105416255	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	1	105416255	1933285	112	4824	93	2								
FMN1	342184	hgsc.bcm.edu	37	chr15	33261127	33261127	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttaggaagtgggggtgggggTgggggtggtggaggtccagc	25	3	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr15:33261127T>G	ENST00000559047.1	-	5	2774	c.2775A>C	c.(2773-2775)ccA>ccC	p.P925P	FMN1_ENST00000561249.1_Silent_p.P827P|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Silent_p.P702P			Q68DA7	FMN1_HUMAN	formin 1	925	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ggggtgggggtgggggtggTG	0.682																																					p.P702P		Atlas-SNP	.											FMN1_ENST00000334528,NS,carcinoma,0,4	FMN1	174	4	0			c.A2106C						scavenged	.						3	3	3					15																	33261127		1533	3506	5039	SO:0001819	synonymous_variant	342184	exon4			TGGGGGTGGGGGT	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2775A>C	15.37:g.33261127T>G		Somatic	28	11	0.392857		WXS	Illumina HiSeq	Phase_I	28	18	0.642857	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																				.	.	none		0.682	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33261127	T	G	33261127	2	3	20	1	0	0	0	0	0	0	0	1	5949	1683	59	5		5	FMN1	15	33261127	Silent	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10		33261127	69270265	113	4825										
TYRO3	7301	hgsc.bcm.edu	37	chr15	41859646	41859646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gctccgggacctggtgcctgCcaccaactacagcctcaggg	12	16	1	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr15:41859646C>T	ENST00000263798.3	+	7	1096	c.872C>T	c.(871-873)gCc>gTc	p.A291V	TYRO3_ENST00000559066.1_Missense_Mutation_p.A246V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	291	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		CTGGTGCCTGCCACCAACTAC	0.622																																					p.A291V		Atlas-SNP	.											.	TYRO3	169	.	0			c.C872T						PASS	.						95	97	97					15																	41859646		2203	4300	6503	SO:0001583	missense	7301	exon7			TGCCTGCCACCAA	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.872C>T	15.37:g.41859646C>T	ENSP00000263798:p.Ala291Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_006293	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864830	0.51482	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57595	0.39	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000740	T	0.41396	0.1157	L	0.29908	0.895	0.33717	D	0.616478	P	0.46578	0.88	B	0.42462	0.388	T	0.50608	-0.8808	10	0.18710	T	0.47	-16.5648	14.5246	0.67878	0.0:1.0:0.0:0.0	.	291	Q06418	TYRO3_HUMAN	V	223;291	ENSP00000263798:A291V	ENSP00000263798:A291V	A	+	2	0	TYRO3	39646938	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.491000	0.45303	2.417000	0.82017	0.655000	0.94253	GCC	.	.	none		0.622	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			T	41859646	C	T	41859646	3	4	20	1	0	0	0	0	1	0	0	0	16811	739	26	2	898	2	TYRO3	15	41859646	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	8598519	41859646	60671746	114	4826										
MYO5C	55930	hgsc.bcm.edu	37	chr15	52487626	52487626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcttctcaaagtcatctataGgtgtgtatgaattaaggatc	8	6	4	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr15:52487626G>A	ENST00000261839.7	-	40	5185	c.5024C>T	c.(5023-5025)cCt>cTt	p.P1675L	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1675	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTCATCTATAGGTGTGTATGA	0.353																																					p.P1675L		Atlas-SNP	.											.	MYO5C	162	.	0			c.C5024T						PASS	.						83	82	82					15																	52487626		1853	4081	5934	SO:0001583	missense	55930	exon40			TCTATAGGTGTGT	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5024C>T	15.37:g.52487626G>A	ENSP00000261839:p.Pro1675Leu	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	221	99	0.447964	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063602	0.93898	.	.	ENSG00000128833	ENST00000261839	D	0.90133	-2.62	5.62	5.62	0.85841	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95790	0.8824	10	0.87932	D	0	.	19.661	0.95871	0.0:0.0:1.0:0.0	.	1675	Q9NQX4	MYO5C_HUMAN	L	1675	ENSP00000261839:P1675L	ENSP00000261839:P1675L	P	-	2	0	MYO5C	50274918	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.869000	0.99810	2.659000	0.90383	0.655000	0.94253	CCT	.	.	none		0.353	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52487626	G	A	52487626	3	1	20	1	0	0	0	0	1	0	0	0	10080	1000	35	2	212	2	MYO5C	15	52487626	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	10627980	52487626	50043766	115	4827										
LINGO1	84894	hgsc.bcm.edu	37	chr15	77906995	77906995	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgggcgcggcggcaggtgaaGtagttgggcagtagcacatc	18	9	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr15:77906995G>T	ENST00000355300.6	-	2	1428	c.1254C>A	c.(1252-1254)taC>taA	p.Y418*	LINGO1_ENST00000561030.1_Nonsense_Mutation_p.Y412*	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	418	Ig-like C2-type.|LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCAGGTGAAGTAGTTGGGCA	0.657																																					p.Y418X		Atlas-SNP	.											LINGO1,right_upper_lobe,carcinoma,-1,1	LINGO1	76	1	0			c.C1254A						scavenged	.						15	21	19					15																	77906995		2081	4180	6261	SO:0001587	stop_gained	84894	exon2			GGTGAAGTAGTTG	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1254C>A	15.37:g.77906995G>T	ENSP00000347451:p.Tyr418*	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	128	3	0.0234375	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Nonsense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458844	0.84317	.	.	ENSG00000169783	ENST00000355300	.	.	.	4.69	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4502	0.32866	0.3122:0.0:0.6878:0.0	.	.	.	.	X	418	.	ENSP00000347451:Y418X	Y	-	3	2	LINGO1	75694050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.586000	0.36611	0.418000	0.25898	0.462000	0.41574	TAC	.	.	none		0.657	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		T	77906995	G	T	77906995	4	4	20	1	0	0	0	0	0	1	0	0	8814	1024	36	4	612	4	LINGO1	15	77906995	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	25419369	77906995	24624397	116	4828										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16146585	16146585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcctttccttccttagaatcTgggcccttccgtcctggctg	8	15	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr16:16146585T>C	ENST00000399410.3	+	11	1560	c.1385T>C	c.(1384-1386)cTg>cCg	p.L462P	ABCC1_ENST00000351154.5_Missense_Mutation_p.L462P|ABCC1_ENST00000399408.2_Missense_Mutation_p.L462P|ABCC1_ENST00000345148.5_Missense_Mutation_p.L462P|ABCC1_ENST00000346370.5_Missense_Mutation_p.L462P|ABCC1_ENST00000349029.5_Missense_Mutation_p.L462P	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	462	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCTTAGAATCTGGGCCCTTCC	0.552																																					p.L462P		Atlas-SNP	.											.	ABCC1	156	.	0			c.T1385C						PASS	.						126	127	127					16																	16146585		2108	4218	6326	SO:0001583	missense	4363	exon11			AGAATCTGGGCCC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1385T>C	16.37:g.16146585T>C	ENSP00000382342:p.Leu462Pro	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	127	52	0.409449	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085088	0.55861	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.12	5.12	0.69794	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.073654	0.56097	D	0.000030	D	0.96756	0.8941	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.994;0.986;0.999;0.992;0.99	D	0.97898	1.0301	10	0.87932	D	0	-15.4369	14.0882	0.64973	0.0:0.0:0.0:1.0	.	462;462;462;462;462;462;462	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	P	462;462;462;462;462;462;136	ENSP00000382342:L462P;ENSP00000382340:L462P;ENSP00000263019:L462P;ENSP00000263017:L462P;ENSP00000263014:L462P;ENSP00000263016:L462P	ENSP00000263014:L462P	L	+	2	0	ABCC1	16054086	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	7.659000	0.83766	1.913000	0.55393	0.402000	0.26972	CTG	.	.	none		0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		C	16146585	T	C	16146585	3	2	20	1	0	0	0	0	1	0	0	0	49	1580	55	3	1427	3	ABCC1	16	16146585	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10		16146585	74208168	117	4829										
CDIPT	10423	hgsc.bcm.edu	37	chr16	29870830	29870830	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agctcattcccagcacacaaGgtgaacagagcaggctgcac	10	13	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr16:29870830G>T	ENST00000219789.6	-	5	1307	c.429C>A	c.(427-429)acC>acA	p.T143T	CDIPT_ENST00000561555.1_Silent_p.T167T|CDIPT_ENST00000566113.1_Silent_p.T98T|CDIPT_ENST00000567459.1_5'Flank|CDIPT_ENST00000570016.1_Silent_p.T143T|CDIPT_ENST00000563415.1_Intron|CDIPT_ENST00000569956.1_Silent_p.T143T	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	143					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						CAGCACACAAGGTGAACAGAG	0.572																																					p.T143T		Atlas-SNP	.											.	CDIPT	15	.	0			c.C429A						PASS	.						86	71	76					16																	29870830		2197	4300	6497	SO:0001819	synonymous_variant	10423	exon5			ACACAAGGTGAAC	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"phosphatidylinositol synthase"	605893	"CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.429C>A	16.37:g.29870830G>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	95	5	0.0526316	NM_006319	B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Silent	SNP	ENST00000219789.6	37	CCDS10657.1																																																																																			.	.	none		0.572	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		T	29870830	G	T	29870830	2	4	20	1	0	0	0	0	0	0	0	1	3123	987	35	4		4	CDIPT	16	29870830	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	13724245	29870830	60483923	118	4830										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48209258	48209258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccgatgctgcaaatgtccacGccgtcaatgagaatccggcc	10	14	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr16:48209258G>A	ENST00000394747.1	-	25	3958	c.3609C>T	c.(3607-3609)ggC>ggT	p.G1203G	ABCC11_ENST00000394748.1_Silent_p.G1203G|ABCC11_ENST00000356608.2_Silent_p.G1203G|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.G1203G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1203	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAATGTCCACGCCGTCAATGA	0.607																																					p.G1203G		Atlas-SNP	.											ABCC11,right_upper_lobe,carcinoma,-2,1	ABCC11	177	1	0			c.C3609T						scavenged	.						72	60	64					16																	48209258		2201	4300	6501	SO:0001819	synonymous_variant	85320	exon25			GTCCACGCCGTCA	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3609C>T	16.37:g.48209258G>A		Somatic	77	1	0.012987		WXS	Illumina HiSeq	Phase_I	95	45	0.473684	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			.	.	none		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48209258	G	A	48209258	2	1	20	1	0	0	0	0	0	0	0	1	51	1074	38	1		1	ABCC11	16	48209258	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	18338428	48209258	42145495	119	4831										
SALL1	6299	hgsc.bcm.edu	37	chr16	51175658	51175658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggagctgccgccgccgccgcTgctgctgctgctgctgctgc	15	17	0	0	rs13336129	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr16:51175658T>C	ENST00000251020.4	-	2	508	c.475A>G	c.(475-477)Agc>Ggc	p.S159G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S62G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgctgctgctgctg	0.632													-|||	243	0.0485224	0.0567	0.0461	5008	,	,		12570	0.0288		0.0845	False		,,,				2504	0.0225				p.S159G	GBM(103;1352 1446 1855 4775 8890)	Atlas-SNP	.											SALL1,NS,carcinoma,0,1	SALL1	301	1	1	Substitution - Missense(1)	prostate(1)	c.A475G						PASS	.	C	GLY/SER,GLY/SER	201,4161		4,193,1984	21	24	23		475,184	-0.4	0	16	dbSNP_121	23	540,8026		25,490,3768	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	29,683,5752	CC,CT,TT		6.304,4.608,5.7317	benign,benign	159/1325,62/1228	51175658	741,12187	2181	4283	6464	SO:0001583	missense	6299	exon2			CGCCGCTGCTGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475A>G	16.37:g.51175658T>C	ENSP00000251020:p.Ser159Gly	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	160	7	0.04375	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	125	0.05723443223443223	21	0.042682926829268296	18	0.049723756906077346	21	0.03671328671328671	65	0.08575197889182058	-	0.001	-3.561441	0.00009	0.04608	0.06304	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06933	3.24;3.3	0.185	-0.371	0.12525	.	0.296893	0.19374	N	0.115821	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.16289	0.015	T	0.43032	-0.9416	9	0.18710	T	0.47	.	.	.	.	rs13336129	159	Q9NSC2	SALL1_HUMAN	G	159;62;123	ENSP00000251020:S159G;ENSP00000407914:S62G	ENSP00000251020:S159G	S	-	1	0	SALL1	49733159	0.876000	0.30132	0.002000	0.10522	0.005000	0.04900	-0.084000	0.11268	-0.889000	0.03950	-0.925000	0.02716	AGC	T|0.933;C|0.067	0.067	strong		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51175658	T	C	51175658	3	2	20	1	0	0	0	0	1	0	0	0	13810	1580	55	3	3507	3	SALL1	16	51175658	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	2966400	51175658	39179095	120	4832										
CPNE2	221184	hgsc.bcm.edu	37	chr16	57171163	57171163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caaccacgtggcccggtttgCggcccaggccacacaacagc	11	17	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr16:57171163C>G	ENST00000535318.2	+	15	1632	c.1271C>G	c.(1270-1272)gCg>gGg	p.A424G	CPNE2_ENST00000565874.1_Missense_Mutation_p.A424G|CPNE2_ENST00000290776.8_Missense_Mutation_p.A424G|CPNE2_ENST00000537605.1_Missense_Mutation_p.A322G|CPNE2_ENST00000565951.1_Intron			Q96FN4	CPNE2_HUMAN	copine II	424	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCCGGTTTGCGGCCCAGGCC	0.622																																					p.A424G		Atlas-SNP	.											.	CPNE2	48	.	0			c.C1271G						PASS	.						84	55	65					16																	57171163		2198	4300	6498	SO:0001583	missense	221184	exon14			GGTTTGCGGCCCA		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1271C>G	16.37:g.57171163C>G	ENSP00000439018:p.Ala424Gly	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_152727	Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784801	0.96937	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.28255	1.62;1.62;1.62	5.88	5.88	0.94601	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73173	-0.4066	10	0.72032	D	0.01	-30.9625	20.2422	0.98381	0.0:1.0:0.0:0.0	.	424;424	A8K8A4;Q96FN4	.;CPNE2_HUMAN	G	424;322;424	ENSP00000290776:A424G;ENSP00000445468:A322G;ENSP00000439018:A424G	ENSP00000290776:A424G	A	+	2	0	CPNE2	55728664	1.000000	0.71417	0.980000	0.43619	0.917000	0.54804	7.788000	0.85771	2.782000	0.95742	0.655000	0.94253	GCG	.	.	none		0.622	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		G	57171163	C	G	57171163	3	3	20	1	0	0	0	0	1	0	0	0	3812	768	27	4	1321	4	CPNE2	16	57171163	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	5995505	57171163	33183590	121	4833										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386176	7386176	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gtcctgcattccgaggtggtGgtggcccttatactgcagta	13	10	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:7386176G>C	ENST00000412468.2	+	2	988	c.873G>C	c.(871-873)gtG>gtC	p.V291V	POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	291	EamA 2.					integral component of membrane (GO:0016021)											CCGAGGTGGTGGTGGCCCTTA	0.582																																					p.V291V		Atlas-SNP	.											POLR2A_ENST00000412468,NS,haematopoietic_neoplasm,0,1	.	.	1	0			c.G873C						scavenged	.						197	182	187					17																	7386176		2203	4300	6503	SO:0001819	synonymous_variant	643664	exon2			GGTGGTGGTGGCC		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.873G>C	17.37:g.7386176G>C		Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	185	21	0.113514	NM_001102614		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																			.	.	alt		0.582	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386176	G	C	7386176	2	2	20	1	0	0	0	0	0	0	0	1	561	1335	47	4		4	AMAC1L3	17	7386176	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10		7386176	73809034	122	4834										
MYH8	4626	hgsc.bcm.edu	37	chr17	10293802	10293802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tgatttttgtgtgaacctctCggctcttcactcgcaatttg	8	10	3	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:10293802C>T	ENST00000403437.2	-	40	5877	c.5783G>A	c.(5782-5784)cGa>cAa	p.R1928Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1928					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTGAACCTCTCGGCTCTTCAC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1928Q		Atlas-SNP	.											.	MYH8	346	.	0			c.G5783A						PASS	.						149	142	145					17																	10293802		2203	4300	6503	SO:0001583	missense	4626	exon40	Familial Cancer Database	Carney Complex Variant	ACCTCTCGGCTCT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5783G>A	17.37:g.10293802C>T	ENSP00000384330:p.Arg1928Gln	Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	325	145	0.446154	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792275	0.90453	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83755	-1.76	5.05	4.09	0.47781	Myosin tail (1);	0.000000	0.35903	U	0.002906	D	0.89167	0.6638	M	0.94142	3.5	0.50039	D	0.999841	P	0.46277	0.875	P	0.45971	0.499	D	0.91641	0.5327	10	0.72032	D	0.01	.	13.789	0.63128	0.0:0.926:0.0:0.074	.	1928	P13535	MYH8_HUMAN	Q	1928	ENSP00000384330:R1928Q	ENSP00000252173:R1928Q	R	-	2	0	MYH8	10234527	1.000000	0.71417	0.990000	0.47175	0.862000	0.49288	5.827000	0.69300	1.353000	0.45828	0.650000	0.86243	CGA	.	.	none		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10293802	C	T	10293802	3	4	20	1	0	0	0	0	1	0	0	0	10041	884	31	1	34	1	MYH8	17	10293802	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	2907626	10293802	70901408	123	4835										
KRT25	147183	hgsc.bcm.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	13	12	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:38906791G>C	ENST00000312150.4	-	6	1076	c.1016C>G	c.(1015-1017)gCg>gGg	p.A339G		NM_181534.3	NP_853512.1			keratin 25									p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562																																					p.A339G		Atlas-SNP	.											KRT25,NS,carcinoma,0,4	KRT25	63	4	1	Substitution - Missense(1)	prostate(1)	c.C1016G						PASS	.						138	140	139					17																	38906791		2203	4300	6503	SO:0001583	missense	147183	exon6			ATCTGCGCCAGCT	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1016C>G	17.37:g.38906791G>C	ENSP00000310573:p.Ala339Gly	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	180	66	0.366667	NM_181534		Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374955	0.61735	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88586	-2.4	5.52	5.52	0.82312	Filament (1);	0.213774	0.33040	N	0.005356	D	0.83760	0.5324	L	0.28192	0.835	0.09310	N	1	B	0.15141	0.012	B	0.22753	0.041	T	0.75042	-0.3457	10	0.54805	T	0.06	.	15.7677	0.78141	0.0:0.0:0.8633:0.1367	.	339	Q7Z3Z0	K1C25_HUMAN	G	268;339	ENSP00000310573:A339G	ENSP00000310573:A339G	A	-	2	0	KRT25	36160317	0.243000	0.23878	0.929000	0.37066	0.713000	0.41058	3.072000	0.50049	2.566000	0.86566	0.655000	0.94253	GCG	.	.	none		0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		C	38906791	G	C	38906791	3	2	20	1	0	0	0	0	1	0	0	0	8462	1087	38	4	348	4	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	28612989	38906791	42288419	124	4836										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240781	39240781	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gtctgtgtgctgccagcccaCctgctgccgccccagctgct	11	18	1	0	rs372960430|rs553572799	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:39240781C>G	ENST00000391417.4	+	1	323	c.323C>G	c.(322-324)aCc>aGc	p.T108S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	133	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662																																					p.T108S		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-7	49	2	0			c.C323G						scavenged	.						13	15	14					17																	39240781		1874	3648	5522	SO:0001583	missense	100132476	exon1			AGCCCACCTGCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.323C>G	17.37:g.39240781C>G	ENSP00000375236:p.Thr108Ser	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	37	3	0.0810811	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.159	-0.644403	0.03531	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00580	6.43	3.41	1.04	0.20106	.	1.411810	0.05113	N	0.489187	T	0.00356	0.0011	.	.	.	0.19575	N	0.999961	B	0.17268	0.021	B	0.15052	0.012	T	0.35351	-0.9792	9	0.07175	T	0.84	.	7.6942	0.28585	0.1798:0.6442:0.176:0.0	.	108	Q9BYR0	KRA47_HUMAN	S	108;99	ENSP00000375236:T108S	ENSP00000375236:T108S	T	+	2	0	KRTAP4-9;KRTAP4-7	36494307	0.000000	0.05858	0.287000	0.24848	0.438000	0.31896	-2.909000	0.00699	0.494000	0.27859	0.455000	0.32223	ACC	.	.	alt		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240781	C	G	39240781	3	3	20	1	0	0	0	0	1	0	0	0	8555	507	18	4	325	4	KRTAP4-7	17	39240781	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	333990	39240781	41954429	125	4837			1	29		2	2	14	C		6.550872e-05
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240794	39240794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cagcccacctgctgccgcccCagctgctgccgcccctgctg	10	22	0	0	rs9894106|rs553572799	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																					p.P112P		Atlas-SNP	.											KRTAP4-7,NS,carcinoma,0,3	KRTAP4-7	49	3	3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	NS(2)|prostate(1)	c.C336A						scavenged	.						13	14	14					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476	exon1			CCGCCCCAGCTGC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	39	5	0.128205	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.	.	weak		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240794	C	A	39240794	2	1	20	1	0	0	0	0	0	0	0	1	8555	581	21	4		4	KRTAP4-7	17	39240794	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	13	39240794	41954416	126	4838			1	29		2	2	14	C		6.550872e-05
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274360	39274360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gcgacagcagctggagatgcAgcatctggggcggcagcagg	18	10	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:39274360A>T	ENST00000391413.2	-	1	246	c.208T>A	c.(208-210)Tgc>Agc	p.C70S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	70	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGAGATGCAGCATCTGGGG	0.667																																					p.C70S		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,0,1	KRTAP4-11	94	1	0			c.T208A						scavenged	.						7	12	11					17																	39274360		677	1580	2257	SO:0001583	missense	653240	exon1			AGATGCAGCATCT	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.208T>A	17.37:g.39274360A>T	ENSP00000375232:p.Cys70Ser	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219303	0.39201	.	.	ENSG00000212721	ENST00000391413	T	0.02280	4.36	3.77	1.34	0.21922	.	0.000000	0.36972	U	0.002304	T	0.04770	0.0129	M	0.90252	3.1	0.23636	N	0.997233	B	0.17268	0.021	B	0.17722	0.019	T	0.23048	-1.0199	10	0.54805	T	0.06	.	4.9719	0.14119	0.7038:0.1861:0.1101:0.0	.	70	Q9BYQ6	KR411_HUMAN	S	70	ENSP00000375232:C70S	ENSP00000375232:C70S	C	-	1	0	KRTAP4-11	36527886	0.844000	0.29557	0.494000	0.27515	0.120000	0.20174	1.052000	0.30429	0.644000	0.30656	0.496000	0.49642	TGC	.	.	none		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274360	A	T	39274360	3	4	20	1	0	0	0	0	1	0	0	0	8549	188	7	5	383	5	KRTAP4-11	17	39274360	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	33566	39274360	41920850	127	4839										
KRT19	3880	hgsc.bcm.edu	37	chr17	39681516	39681516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cctggagttctcaatggtggCaccaagaatctggaaggcag	13	9	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:39681516C>T	ENST00000361566.3	-	2	490	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	144	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCAATGGTGGCACCAAGAATC	0.537																																					p.A144T		Atlas-SNP	.											.	KRT19	41	.	0			c.G430A						PASS	.						106	102	104					17																	39681516		2203	4300	6503	SO:0001583	missense	3880	exon2			TGGTGGCACCAAG		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.430G>A	17.37:g.39681516C>T	ENSP00000355124:p.Ala144Thr	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	54	34	0.62963	NM_002276	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528656	0.85706	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.88975	-2.45;-2.45	5.0	5.0	0.66597	Filament (1);	0.000000	0.46758	D	0.000268	D	0.92018	0.7471	L	0.54908	1.71	0.80722	D	1	D;P	0.76494	0.999;0.857	D;P	0.68943	0.961;0.732	D	0.88520	0.3095	10	0.13108	T	0.6	.	18.4827	0.90818	0.0:1.0:0.0:0.0	.	307;144	B4DE59;P08727	.;K1C19_HUMAN	T	144;113	ENSP00000355124:A144T;ENSP00000408759:A113T	ENSP00000355124:A144T	A	-	1	0	KRT19	36935042	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.663000	0.61532	2.599000	0.87857	0.561000	0.74099	GCC	.	.	none		0.537	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		T	39681516	C	T	39681516	3	4	20	1	0	0	0	0	1	0	0	0	8456	710	25	2	792	2	KRT19	17	39681516	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	407156	39681516	41513694	128	4840										
KRT17	3872	hgsc.bcm.edu	37	chr17	39775873	39775873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gtggtctggtggacctgctcGcgggaggagatgaccttgcc	17	10	1	2	rs575174355		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:39775873G>A	ENST00000311208.8	-	8	1339	c.1272C>T	c.(1270-1272)cgC>cgT	p.R424R	JUP_ENST00000540235.1_Silent_p.R583R	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	424	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGACCTGCTCGCGGGAGGAGA	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.001				p.R424R	Pancreas(92;1242 2086 39193 50508)	Atlas-SNP	.											.	KRT17	57	.	0			c.C1272T						PASS	.						93	92	92					17																	39775873		2203	4300	6503	SO:0001819	synonymous_variant	3872	exon8			CTGCTCGCGGGAG	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1272C>T	17.37:g.39775873G>A		Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	358	157	0.438547	NM_000422	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																			.	.	none		0.652	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		A	39775873	G	A	39775873	2	1	20	1	0	0	0	0	0	0	0	1	8454	1074	38	1		1	KRT17	17	39775873	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	94357	39775873	41419337	129	4841										
VEZF1	7716	hgsc.bcm.edu	37	chr17	56058015	56058016	+	Frame_Shift_Ins	INS	-	-	T													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttgatactttggctctgcccINSatgagtctttaagtggctgg							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:56058015_56058016insT	ENST00000581208.1	-	4	964_965	c.924_925insA	c.(922-927)catgggfs	p.G309fs	VEZF1_ENST00000584396.1_Frame_Shift_Ins_p.G300fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	309					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TGGCTCTGCCCATGAGTCTTTA	0.436																																					p.G309fs		Atlas-Indel	.											.	VEZF1	50	.	0			c.925_926insA						PASS	.																																			SO:0001589	frameshift_variant	7716	exon4			.	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.924_925insA	17.37:g.56058015_56058016insT	ENSP00000462337:p.Gly309fs	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	200	37	0.185	NM_007146		Frame_Shift_Ins	INS	ENST00000581208.1	37	CCDS32687.1																																																																																			.	.	none		0.436	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			T	56058016	-	T	56058015	7	5	20	1	0	1	1	0	0	0	0	0	17152	594	21	0	652	0	VEZF1	17	56058015	Frame_Shift_Ins	INS	-	TCGA-FF-A7CX-01A-12D-A382-10	16282142	56058015	25137195	130	4842	94	2								
VEZF1	7716	hgsc.bcm.edu	37	chr17	56058016	56058016	+	Missense_Mutation	SNP	A	A	T													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttgatactttggctctgcccAtgagtctttaagtggctggt							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:56058016A>T	ENST00000581208.1	-	4	964	c.924T>A	c.(922-924)caT>caA	p.H308Q	VEZF1_ENST00000584396.1_Missense_Mutation_p.H299Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGCTCTGCCCATGAGTCTTTA	0.438																																					p.H308Q		Atlas-SNP	.											VEZF1,NS,carcinoma,-2,1	VEZF1	50	1	0			c.T924A						scavenged	.						172	138	149					17																	56058016		2203	4300	6503	SO:0001583	missense	7716	exon4			CTGCCCATGAGTC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.924T>A	17.37:g.56058016A>T	ENSP00000462337:p.His308Gln	Somatic	280	1	0.00357143		WXS	Illumina HiSeq	Phase_I	197	37	0.187817	NM_007146		Missense_Mutation	SNP	ENST00000581208.1	37	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634518	0.67130	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.69	0.944	0.19537	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	H	0.94734	3.575	0.58432	D	0.999996	D	0.69078	0.997	D	0.64144	0.922	T	0.81265	-0.1011	9	0.87932	D	0	-2.1035	10.2282	0.43238	0.6257:0.0:0.3743:0.0	.	308	Q14119	VEZF1_HUMAN	Q	308	.	ENSP00000258963:H308Q	H	-	3	2	VEZF1	53413015	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.069000	0.30641	-0.115000	0.11915	-0.269000	0.10298	CAT	.	.	none		0.438	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			T	56058016	A	T	56058016	3	4	20	1	0	0	0	0	1	0	0	0	17152	214	8	5	653	5	VEZF1	17	56058016	Missense_Mutation	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	1	56058016	25137194	131	4843	94	2								
HELZ	9931	hgsc.bcm.edu	37	chr17	65116527	65116527	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gaagtacaacttaccatttcGattttgctcatgttgatcct	6	9	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr17:65116527G>A	ENST00000358691.5	-	27	3998	c.3832C>T	c.(3832-3834)Cga>Tga	p.R1278*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R1279*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1278						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)					TTACCATTTCGATTTTGCTCA	0.418																																					p.R1278X		Atlas-SNP	.											.	HELZ	160	.	0			c.C3832T						PASS	.						251	216	227					17																	65116527		1990	4185	6175	SO:0001587	stop_gained	9931	exon27			CATTTCGATTTTG	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.3832C>T	17.37:g.65116527G>A	ENSP00000351524:p.Arg1278*	Somatic	437	0	0		WXS	Illumina HiSeq	Phase_I	446	195	0.43722	NM_014877	I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	43	10.302058	0.99379	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.78	4.8	0.61643	.	0.055330	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0796	16.2698	0.82608	0.0:0.0:0.8664:0.1336	.	.	.	.	X	1278	.	ENSP00000351524:R1278X	R	-	1	2	HELZ	62546989	1.000000	0.71417	0.954000	0.39281	0.821000	0.46438	1.433000	0.34947	1.430000	0.47334	0.655000	0.94253	CGA	.	.	none		0.418	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65116527	G	A	65116527	4	1	20	1	0	0	0	0	0	1	0	0	7049	1066	37	1	2024	1	HELZ	17	65116527	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	9058511	65116527	16078683	132	4844										
THOC1	9984	hgsc.bcm.edu	37	chr18	216549	216549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tctggtaaacttttaaactgCtggttggttggctggaagaa	12	5	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr18:216549C>T	ENST00000261600.6	-	19	1546	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	513					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTAAACTGCTGGTTGGTTG	0.393																																					p.Q513Q		Atlas-SNP	.											.	THOC1	43	.	0			c.G1539A						PASS	.						188	190	189					18																	216549		1841	4093	5934	SO:0001819	synonymous_variant	9984	exon19			AAACTGCTGGTTG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1539G>A	18.37:g.216549C>T		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	100	79	0.79	NM_005131	B2RBP6|Q15219|Q64I72|Q64I73	Silent	SNP	ENST00000261600.6	37	CCDS45820.1																																																																																			.	.	none		0.393	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		T	216549	C	T	216549	2	4	20	1	0	0	0	0	0	0	0	1	15861	796	28	2		2	THOC1	18	216549	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		216549	77860699	133	4845										
CDH2	1000	hgsc.bcm.edu	37	chr18	25572711	25572711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gccactgattctgtacactgCgttccaggctggtgtatggg	13	10	1	1	rs200263846		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr18:25572711C>T	ENST00000269141.3	-	9	1675	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	CDH2_ENST00000399380.3_Missense_Mutation_p.A387T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	418	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTACACTGCGTTCCAGGCT	0.502																																					p.A418T		Atlas-SNP	.											.	CDH2	194	.	0			c.G1252A						PASS	.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	229	176	194		1252	5.4	0.6	18		194	0,8600		0,0,4300	no	missense	CDH2	NM_001792.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	418/907	25572711	1,13005	2203	4300	6503	SO:0001583	missense	1000	exon9			ACACTGCGTTCCA	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1252G>A	18.37:g.25572711C>T	ENSP00000269141:p.Ala418Thr	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	152	12	0.0789474	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262284	0.80358	2.27E-4	0.0	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.54279	0.58;0.58	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.74748	-0.3560	10	0.54805	T	0.06	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	387;418	A8MWK3;P19022	.;CADH2_HUMAN	T	418;387	ENSP00000269141:A418T;ENSP00000382312:A387T	ENSP00000269141:A418T	A	-	1	0	CDH2	23826709	1.000000	0.71417	0.551000	0.28230	0.257000	0.26127	6.052000	0.71080	2.674000	0.91012	0.655000	0.94253	GCA	.	.	weak		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25572711	C	T	25572711	3	4	20	1	0	0	0	0	1	0	0	0	3105	768	27	1	1500	1	CDH2	18	25572711	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	25356162	25572711	52504537	134	4846										
KIAA1012	22878	hgsc.bcm.edu	37	chr18	29511319	29511319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gttaaggtcataatctcctgCtgtaatcacattagctacta	6	9	3	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr18:29511319C>T	ENST00000283351.4	-	2	660	c.325G>A	c.(325-327)Gca>Aca	p.A109T	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A55T|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.A109T|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	109					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						TAATCTCCTGCTGTAATCACA	0.408																																					p.A109T		Atlas-SNP	.											.	TRAPPC8	126	.	0			c.G325A						PASS	.						129	123	125					18																	29511319		2203	4300	6503	SO:0001583	missense	22878	exon2			CTCCTGCTGTAAT	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.325G>A	18.37:g.29511319C>T	ENSP00000283351:p.Ala109Thr	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	188	90	0.478723	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315881	0.60524	.	.	ENSG00000153339	ENST00000283351	T	0.08807	3.05	5.98	5.98	0.97165	.	0.062021	0.64402	D	0.000005	T	0.09379	0.0231	L	0.40543	1.245	0.51012	D	0.999907	B;B	0.20780	0.048;0.048	B;B	0.21360	0.012;0.034	T	0.25572	-1.0128	10	0.11485	T	0.65	.	18.6326	0.91366	0.0:1.0:0.0:0.0	.	109;109	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	T	109	ENSP00000283351:A109T	ENSP00000283351:A109T	A	-	1	0	TRAPPC8	27765317	1.000000	0.71417	0.921000	0.36526	0.990000	0.78478	6.733000	0.74796	2.838000	0.97847	0.591000	0.81541	GCA	.	.	none		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		T	29511319	C	T	29511319	3	4	20	1	0	0	0	0	1	0	0	0	8204	797	28	2	4094	2	KIAA1012	18	29511319	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	3938608	29511319	48565929	135	4847										
SMAD7	4092	hgsc.bcm.edu	37	chr18	46448230	46448230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cgtcttctcctcccagtatgCcaccacgcaccagtgtgacc	7	18	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr18:46448230C>T	ENST00000262158.2	-	4	1079	c.793G>A	c.(793-795)Gca>Aca	p.A265T	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.A264T|SMAD7_ENST00000591805.1_Missense_Mutation_p.A50T	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	265	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCCCAGTATGCCACCACGCAC	0.537																																					p.A265T		Atlas-SNP	.											.	SMAD7	22	.	0			c.G793A						PASS	.						51	56	54					18																	46448230		2201	4299	6500	SO:0001583	missense	4092	exon4			AGTATGCCACCAC	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.793G>A	18.37:g.46448230C>T	ENSP00000262158:p.Ala265Thr	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_005904	B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602452	0.87157	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.98937	-5.25	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.102280	0.64402	D	0.000002	D	0.98905	0.9629	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.954;0.999	D	0.99900	1.1158	10	0.87932	D	0	.	17.8377	0.88704	0.0:1.0:0.0:0.0	.	265;77	O15105;B3KYA8	SMAD7_HUMAN;.	T	50;265	ENSP00000262158:A265T	ENSP00000262158:A265T	A	-	1	0	SMAD7	44702228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.643000	0.89663	0.591000	0.81541	GCA	.	.	none		0.537	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		T	46448230	C	T	46448230	3	4	20	1	0	0	0	0	1	0	0	0	14763	739	26	2	491	2	SMAD7	18	46448230	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	16936911	46448230	31629018	136	4848										
DSEL	92126	hgsc.bcm.edu	37	chr18	65178778	65178778	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctatgtacaatgccctcatcGaagctcctaaaacttcctga	5	13	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr18:65178778G>T	ENST00000310045.7	-	2	4571	c.3098C>A	c.(3097-3099)tCg>tAg	p.S1033*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1023					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGCCCTCATCGAAGCTCCTAA	0.408																																					p.S1033X		Atlas-SNP	.											DSEL,colon,carcinoma,0,2	DSEL	196	2	0			c.C3098A						PASS	.						81	86	84					18																	65178778		2203	4300	6503	SO:0001587	stop_gained	92126	exon2			CTCATCGAAGCTC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3098C>A	18.37:g.65178778G>T	ENSP00000310565:p.Ser1033*	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	81	32	0.395062	NM_032160	Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	51	18.544858	0.99907	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	4.94	4.94	0.65067	.	0.084010	0.50627	U	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1601	18.2215	0.89903	0.0:0.0:1.0:0.0	.	.	.	.	X	1033;1023	.	ENSP00000310565:S1033X	S	-	2	0	DSEL	63329758	1.000000	0.71417	0.820000	0.32676	0.993000	0.82548	9.733000	0.98818	2.292000	0.77174	0.558000	0.71614	TCG	.	.	none		0.408	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		T	65178778	G	T	65178778	4	4	20	1	0	0	0	0	0	1	0	0	4775	1059	37	4	574	4	DSEL	18	65178778	Nonsense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	18730548	65178778	12898470	137	4849										
MED16	10025	hgsc.bcm.edu	37	chr19	880103	880103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccatggtctgcagtgagagcCggtgcacgatgtggacgctg	16	10	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:880103C>T	ENST00000589119.1	-	7	1186	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.R396Q|MED16_ENST00000312090.6_Missense_Mutation_p.R396Q|MED16_ENST00000325464.1_Missense_Mutation_p.R396Q|MED16_ENST00000395808.3_Missense_Mutation_p.R396Q			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	396					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)		CAGTGAGAGCCGGTGCACGAT	0.721																																					p.R396Q		Atlas-SNP	.											.	MED16	61	.	0			c.G1187A						PASS	.						20	21	21					19																	880103		2169	4279	6448	SO:0001583	missense	10025	exon8			GAGAGCCGGTGCA	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.1187G>A	19.37:g.880103C>T	ENSP00000464810:p.Arg396Gln	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154168	0.94645	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	3.94	3.94	0.45596	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.79108	0.986;0.988;0.986;0.986;0.992	T	0.69720	-0.5069	10	0.54805	T	0.06	-6.181	15.3215	0.74126	0.0:1.0:0.0:0.0	.	396;396;396;396;396	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	396;396;396;396;396;252;157;155;396	ENSP00000325612:R396Q;ENSP00000308528:R396Q;ENSP00000379153:R396Q;ENSP00000269814:R396Q	ENSP00000269814:R396Q	R	-	2	0	MED16	831103	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	6.990000	0.76225	1.910000	0.55303	0.561000	0.74099	CGG	.	.	none		0.721	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		T	880103	C	T	880103	3	4	20	1	0	0	0	0	1	0	0	0	9434	652	23	1	1482	1	MED16	19	880103	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		880103	58248880	138	4850										
PDE4A	5141	hgsc.bcm.edu	37	chr19	10571742	10571742	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gctgccatccacgatgtggaTcaccctggggtctccaacca	10	15	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:10571742T>A	ENST00000352831.6	+	11	1538	c.1428T>A	c.(1426-1428)gaT>gaA	p.D476E	PDE4A_ENST00000440014.2_Missense_Mutation_p.D415E|PDE4A_ENST00000293683.5_Missense_Mutation_p.D450E|PDE4A_ENST00000344979.3_Missense_Mutation_p.D237E|PDE4A_ENST00000380702.2_Missense_Mutation_p.D454E|PDE4A_ENST00000592685.1_Missense_Mutation_p.D454E	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	476	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ACGATGTGGATCACCCTGGGG	0.612																																					p.D476E		Atlas-SNP	.											.	PDE4A	236	.	0			c.T1428A						PASS	.						50	43	45					19																	10571742		2203	4300	6503	SO:0001583	missense	5141	exon11			TGTGGATCACCCT		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1428T>A	19.37:g.10571742T>A	ENSP00000270474:p.Asp476Glu	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	81	30	0.37037	NM_001111307	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915647	0.52546	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	4.15	3.08	0.35506	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	M	0.74467	2.265	0.58432	D	0.999996	B;D;D;P;P	0.63046	0.062;0.992;0.992;0.47;0.695	B;P;D;B;B	0.68943	0.021;0.81;0.961;0.164;0.253	T	0.79685	-0.1700	10	0.87932	D	0	.	7.8314	0.29344	0.0:0.8623:0.0:0.1377	.	142;237;415;450;476	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	E	454;476;450;415;237;142	ENSP00000370078:D454E;ENSP00000270474:D476E;ENSP00000293683:D450E;ENSP00000394754:D415E;ENSP00000341007:D237E	ENSP00000293683:D450E	D	+	3	2	PDE4A	10432742	0.999000	0.42202	0.998000	0.56505	0.831000	0.47069	0.703000	0.25646	0.867000	0.35654	0.454000	0.30748	GAT	.	.	none		0.612	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			A	10571742	T	A	10571742	3	1	20	1	0	0	0	0	1	0	0	0	11639	1432	50	5	1927	5	PDE4A	19	10571742	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	9691639	10571742	48557241	139	4851										
KRI1	65095	hgsc.bcm.edu	37	chr19	10671051	10671051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cctcctcctcatagcgtttgTtgaggatgtaatcccgcagg	10	12	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:10671051T>C	ENST00000312962.6	-	9	774	c.755A>G	c.(754-756)aAc>aGc	p.N252S	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.N248S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	246	Glu-rich.			E -> G (in Ref. 1; BAB14357). {ECO:0000305}.		nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ATAGCGTTTGTTGAGGATGTA	0.547																																					p.N252S		Atlas-SNP	.											.	KRI1	65	.	0			c.A755G						PASS	.						81	68	72					19																	10671051		2203	4300	6503	SO:0001583	missense	65095	exon9			CGTTTGTTGAGGA		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.755A>G	19.37:g.10671051T>C	ENSP00000320917:p.Asn252Ser	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	24	6	0.25	NM_023008	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.1|26.1	4.707279|4.707279	0.89018|0.89018	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101|ENST00000543682	T;T|.	0.11712|.	2.91;2.75|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.096297|.	0.64402|.	D|.	0.000002|.	T|T	0.60418|0.60418	0.2267|0.2267	L|L	0.42686|0.42686	1.345|1.345	0.51233|0.51233	D|D	0.99991|0.99991	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.68039|.	0.955;0.955|.	T|T	0.57849|0.57849	-0.7740|-0.7740	10|5	0.26408|.	T|.	0.33|.	-68.9122|-68.9122	14.3212|14.3212	0.66487|0.66487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	252;248|.	Q8N9T8;D3YTE0|.	KRI1_HUMAN;.|.	S|A	252;248;252|190	ENSP00000320917:N252S;ENSP00000355366:N248S|.	ENSP00000320917:N252S|.	N|T	-|-	2|1	0|0	KRI1|KRI1	10532051|10532051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.214000|4.214000	0.58527|0.58527	2.035000|2.035000	0.60131|0.60131	0.460000|0.460000	0.39030|0.39030	AAC|ACA	.	.	none		0.547	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		C	10671051	T	C	10671051	3	2	20	1	0	0	0	0	1	0	0	0	8444	1725	60	2	1418	2	KRI1	19	10671051	Missense_Mutation	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	99309	10671051	48457932	140	4852										
LOC55908	55908	hgsc.bcm.edu	37	chr19	11350375	11350375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggtgacccggcctgcctcagCggcccccatgggcggcccag	15	18	1	1	rs368909299		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:11350375C>T	ENST00000252453.8	+	1	81	c.62C>T	c.(61-63)gCg>gTg	p.A21V	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000319867.7_5'Flank	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	21					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CCTGCCTCAGCGGCCCCCATG	0.642																																					p.A21V		Atlas-SNP	.											.	C19orf80	8	.	0			c.C62T						PASS	.	C	,VAL/ALA	0,3976		0,0,1988	26	28	28		,62	-1	0	19		28	1,8303		0,1,4151	no	intron,missense	C19orf80,DOCK6	NM_020812.2,NM_018687.6	,64	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	,benign	,21/199	11350375	1,12279	1988	4152	6140	SO:0001583	missense	55908	exon1			CCTCAGCGGCCCC		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"lipasin", "betatrophin"					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.62C>T	19.37:g.11350375C>T	ENSP00000252453:p.Ala21Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	81	25	0.308642	NM_018687	Q9NQZ1	Missense_Mutation	SNP	ENST00000252453.8	37	CCDS54220.1	.	.	.	.	.	.	.	.	.	.	C	7.645	0.681793	0.14907	0.0	1.2E-4	ENSG00000130173	ENST00000252453	T	0.29917	1.55	3.95	-0.984	0.10259	.	1.345480	0.05125	N	0.491383	T	0.08758	0.0217	N	0.01576	-0.805	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.25813	-1.0121	10	0.02654	T	1	-25.4118	3.7785	0.08671	0.1661:0.3986:0.0:0.4353	.	21	Q6UXH0	TD26_HUMAN	V	21	ENSP00000252453:A21V	ENSP00000252453:A21V	A	+	2	0	C19orf80	11211375	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.032000	0.13732	-0.346000	0.08312	-0.657000	0.03884	GCG	.	.	weak		0.642	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687		T	11350375	C	T	11350375	3	4	20	1	0	0	0	0	1	0	0	0	8881	768	27	1	64	1	LOC55908	19	11350375	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	679324	11350375	47778608	141	4853										
KLF2	10365	hgsc.bcm.edu	37	chr19	16436026	16436026	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccattgccctgtcgcccgcaGcgctggccgcgcgccgaacc	12	20	0	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:16436026G>A	ENST00000248071.5	+	2	182		c.e2-1		CTD-2562J15.6_ENST00000588799.1_RNA|KLF2_ENST00000592003.1_Intron	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2						cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						GTCGCCCGCAGCGCTGGCCGC	0.721																																					.		Atlas-SNP	.											.	KLF2	10	.	0			c.76-1G>A						PASS	.						2	2	2					19																	16436026		1274	2633	3907	SO:0001630	splice_region_variant	10365	exon2			CCCGCAGCGCTGG	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.76-1G>A	19.37:g.16436026G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	70	28	0.4	NM_016270	Q6IPC4|Q9UJS5|Q9UKR6	Splice_Site	SNP	ENST00000248071.5	37	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553859	0.03996	.	.	ENSG00000127528	ENST00000248071	.	.	.	2.41	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5609	0.27851	0.0:0.0:0.745:0.255	.	.	.	.	.	-1	.	.	.	+	.	.	KLF2	16297026	1.000000	0.71417	0.983000	0.44433	0.017000	0.09413	3.047000	0.49854	0.231000	0.21079	-1.767000	0.00664	.	.	.	none		0.721	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1		Intron	A	16436026	G	A	16436026	5	1	20	1	0	0	0	0	0	0	1	0	8346	985	34	2	81	2	KLF2	19	16436026	Splice_Site	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	5085651	16436026	42692957	142	4854										
SUPT5H	6829	hgsc.bcm.edu	37	chr19	39950582	39950582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ttgatgcgcaagttcattgcCtaccagttcacagacacggt	9	11	2	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:39950582C>A	ENST00000599117.1	+	11	973	c.606C>A	c.(604-606)gcC>gcA	p.A202A	SUPT5H_ENST00000402194.2_Silent_p.A198A|SUPT5H_ENST00000598725.1_Silent_p.A202A|SUPT5H_ENST00000359191.6_Silent_p.A198A|SUPT5H_ENST00000432763.2_Silent_p.A202A			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	202	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGTTCATTGCCTACCAGTTCA	0.537																																					p.A202A		Atlas-SNP	.											.	SUPT5H	119	.	0			c.C606A						PASS	.						97	82	87					19																	39950582		2203	4300	6503	SO:0001819	synonymous_variant	6829	exon9			CATTGCCTACCAG	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.606C>A	19.37:g.39950582C>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	33	17	0.515152	NM_003169	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																			.	.	none		0.537	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		A	39950582	C	A	39950582	2	1	20	1	0	0	0	0	0	0	0	1	15396	668	24	4		4	SUPT5H	19	39950582	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	23514556	39950582	19178401	143	4855										
PHLDB3	653583	hgsc.bcm.edu	37	chr19	44006279	44006279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cctcagctccttcctctggcGctgtagctccttcactcgct	7	18	3	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:44006279G>A	ENST00000292140.5	-	3	730	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R124C	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	124							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TTCCTCTGGCGCTGTAGCTCC	0.657																																					p.R124C		Atlas-SNP	.											Q96HZ0_HUMAN,rectum,carcinoma,0,4	PHLDB3	30	4	0			c.C370T						PASS	.						26	28	27					19																	44006279		2202	4295	6497	SO:0001583	missense	653583	exon3			TCTGGCGCTGTAG		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.370C>T	19.37:g.44006279G>A	ENSP00000292140:p.Arg124Cys	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	125	61	0.488	NM_198850	Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483661	0.84854	.	.	ENSG00000176531	ENST00000292140	T	0.47528	0.84	4.11	4.11	0.48088	.	0.938103	0.08873	N	0.881237	T	0.62732	0.2452	L	0.47716	1.5	0.39113	D	0.961502	D;D	0.89917	1.0;1.0	D;P	0.72338	0.977;0.848	T	0.59558	-0.7432	10	0.72032	D	0.01	.	12.2619	0.54655	0.0:0.0:1.0:0.0	.	124;124	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	C	124	ENSP00000292140:R124C	ENSP00000292140:R124C	R	-	1	0	PHLDB3	48698119	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.602000	0.61098	2.040000	0.60383	0.306000	0.20318	CGC	.	.	none		0.657	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			A	44006279	G	A	44006279	3	1	20	1	0	0	0	0	1	0	0	0	11853	1087	38	1	1608	1	PHLDB3	19	44006279	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	4055697	44006279	15122704	144	4856										
C19orf41	126123	hgsc.bcm.edu	37	chr19	50657864	50657864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aaggatgactcacgagaccaCgatgaccacgaagacaaaga	10	10	1	5	rs189762069		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:50657864C>T	ENST00000293405.3	-	6	616	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	206						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAGACCACGATGACCACG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		13120	0.001		0.0	False		,,,				2504	0.0				p.V206M		Atlas-SNP	.											.	IZUMO2	26	.	0			c.G616A						PASS	.	C	MET/VAL	1,4263		0,1,2131	117	135	129		616	-0.5	0	19		129	0,8488		0,0,4244	yes	missense	IZUMO2	NM_152358.2	21	0,1,6375	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging	206/222	50657864	1,12751	2132	4244	6376	SO:0001583	missense	126123	exon6			AGACCACGATGAC	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.616G>A	19.37:g.50657864C>T	ENSP00000293405:p.Val206Met	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	32	13	0.40625	NM_152358	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	11.80	1.747698	0.30955	2.35E-4	0.0	ENSG00000161652	ENST00000293405	T	0.53640	0.61	3.32	-0.489	0.12052	.	.	.	.	.	T	0.35595	0.0937	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	P	0.46253	0.509	T	0.23797	-1.0178	9	0.62326	D	0.03	.	6.0335	0.19692	0.0:0.5467:0.313:0.1403	.	206	Q6UXV1	IZUM2_HUMAN	M	206	ENSP00000293405:V206M	ENSP00000293405:V206M	V	-	1	0	IZUMO2	55349676	0.025000	0.19082	0.006000	0.13384	0.356000	0.29392	-0.553000	0.06012	0.009000	0.14813	0.305000	0.20034	GTG	C|0.999;T|0.001	0.001	strong		0.577	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		T	50657864	C	T	50657864	3	4	20	1	0	0	0	0	1	0	0	0	1924	536	19	1	57	1	C19orf41	19	50657864	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	6651585	50657864	8471119	145	4857										
SHANK1	50944	hgsc.bcm.edu	37	chr19	51170329	51170329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgggtcagggtggccacctCgctgtcataggatgtcaggc	15	11	3	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:51170329C>T	ENST00000293441.1	-	22	4906	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K	SHANK1_ENST00000391813.1_Missense_Mutation_p.E1017K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1638K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1621K|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1630					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGGCCACCTCGCTGTCATAG	0.741																																					p.E1630K		Atlas-SNP	.											.	SHANK1	210	.	0			c.G4888A						PASS	.						7	8	8					19																	51170329		2135	4176	6311	SO:0001583	missense	50944	exon22			CCACCTCGCTGTC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.4888G>A	19.37:g.51170329C>T	ENSP00000293441:p.Glu1630Lys	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	47	26	0.553191	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514991	0.27123	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.45668	1.02;1.48;1.0;0.89	2.39	1.29	0.21616	.	0.428107	0.19862	U	0.104406	T	0.37348	0.1000	N	0.13235	0.315	0.40588	D	0.981464	P;D	0.76494	0.875;0.999	B;P	0.61132	0.176;0.884	T	0.30534	-0.9975	10	0.59425	D	0.04	.	7.5315	0.27685	0.0:0.8515:0.0:0.1485	.	1630;1017	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	K	1630;1017;1621;1638	ENSP00000293441:E1630K;ENSP00000375689:E1017K;ENSP00000351984:E1621K;ENSP00000375690:E1638K	ENSP00000293441:E1630K	E	-	1	0	SHANK1	55862141	0.879000	0.30193	0.999000	0.59377	0.763000	0.43281	1.238000	0.32707	1.043000	0.40175	0.205000	0.17691	GAG	.	.	none		0.741	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		T	51170329	C	T	51170329	3	4	20	1	0	0	0	0	1	0	0	0	14264	893	31	1	1605	1	SHANK1	19	51170329	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	512465	51170329	7958654	146	4858										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56538497	56538497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cggctctagccagaaggatcGtgctgtgctgggcgcaaggt	16	10	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr19:56538497G>A	ENST00000390649.3	+	7	898	c.898G>A	c.(898-900)Gtg>Atg	p.V300M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	300	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAAGGATCGTGCTGTGCTG	0.572																																					p.V300M		Atlas-SNP	.											.	NLRP5	217	.	0			c.G898A						PASS	.						47	53	51					19																	56538497		2103	4219	6322	SO:0001583	missense	126206	exon7			AGGATCGTGCTGT	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.898G>A	19.37:g.56538497G>A	ENSP00000375063:p.Val300Met	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	75	30	0.4	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.205920	0.01568	.	.	ENSG00000171487	ENST00000390649	D	0.81908	-1.55	3.35	-0.145	0.13436	NACHT nucleoside triphosphatase (1);	1.025170	0.07825	N	0.960488	T	0.57917	0.2086	N	0.04116	-0.275	0.09310	N	1	B	0.30634	0.288	B	0.30782	0.12	T	0.51718	-0.8670	10	0.02654	T	1	.	5.3187	0.15870	0.2998:0.5492:0.151:0.0	.	300	P59047	NALP5_HUMAN	M	300	ENSP00000375063:V300M	ENSP00000375063:V300M	V	+	1	0	NLRP5	61230309	1.000000	0.71417	0.001000	0.08648	0.007000	0.05969	1.986000	0.40677	-0.028000	0.13850	-0.302000	0.09304	GTG	.	.	none		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56538497	G	A	56538497	3	1	20	1	0	0	0	0	1	0	0	0	10480	1145	40	1	924	1	NLRP5	19	56538497	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	5368168	56538497	2590486	147	4859										
TMEM90B	79953	hgsc.bcm.edu	37	chr20	24565617	24565617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgggcatcgcagccttctaCttgtcccatgaggtaaggcc	11	13	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr20:24565617C>T	ENST00000376862.3	+	3	1239	c.606C>T	c.(604-606)taC>taT	p.Y202Y	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	202					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CAGCCTTCTACTTGTCCCATG	0.617																																					p.Y202Y		Atlas-SNP	.											.	SYNDIG1	58	.	0			c.C606T						PASS	.						137	124	128					20																	24565617		2203	4300	6503	SO:0001819	synonymous_variant	79953	exon3			CTTCTACTTGTCC	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.606C>T	20.37:g.24565617C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	105	52	0.495238	NM_024893	Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	CCDS13164.1																																																																																			.	.	none		0.617	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		T	24565617	C	T	24565617	2	4	20	1	0	0	0	0	0	0	0	1	16216	576	20	2		2	TMEM90B	20	24565617	Silent	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		24565617	38459903	148	4860										
CDH22	64405	hgsc.bcm.edu	37	chr20	44845551	44845551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agaggccacccagctgacccGccatgtctgtggcctggatc	12	15	1	2			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr20:44845551G>A	ENST00000372262.3	-	4	1152	c.752C>T	c.(751-753)gCg>gTg	p.A251V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.A251V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	251	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTGACCCGCCATGTCTGT	0.637																																					p.A251V		Atlas-SNP	.											.	CDH22	112	.	0			c.C752T						PASS	.						93	80	84					20																	44845551		2203	4300	6503	SO:0001583	missense	64405	exon5			TGACCCGCCATGT	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.752C>T	20.37:g.44845551G>A	ENSP00000361336:p.Ala251Val	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	28	12	0.428571	NM_021248	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.606840	0.66558	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.59638	0.25;0.25	4.17	4.17	0.49024	Cadherin (5);Cadherin-like (1);	0.185956	0.46145	N	0.000310	T	0.62744	0.2453	M	0.80422	2.495	0.44890	D	0.997901	P	0.47962	0.903	B	0.43838	0.433	T	0.67436	-0.5671	10	0.33141	T	0.24	.	16.2392	0.82399	0.0:0.0:1.0:0.0	.	251	Q9UJ99	CAD22_HUMAN	V	251	ENSP00000361336:A251V;ENSP00000437790:A251V	ENSP00000361336:A251V	A	-	2	0	CDH22	44278958	0.996000	0.38824	0.986000	0.45419	0.995000	0.86356	2.338000	0.43957	2.379000	0.81126	0.525000	0.51046	GCG	.	.	none		0.637	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44845551	G	A	44845551	3	1	20	1	0	0	0	0	1	0	0	0	3107	1087	38	1	1766	1	CDH22	20	44845551	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	20279934	44845551	18179969	149	4861										
CYYR1	116159	hgsc.bcm.edu	37	chr21	27938630	27938630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	agtaggagcaacagtagggcGtggttccatcacagcagtaa	13	8	1	0	rs79874795	byFrequency	TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr21:27938630G>A	ENST00000299340.4	-	2	474	c.131C>T	c.(130-132)aCg>aTg	p.T44M	CYYR1_ENST00000435845.2_Missense_Mutation_p.T152M|CYYR1_ENST00000400043.3_Missense_Mutation_p.T44M|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	44						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ACAGTAGGGCGTGGTTCCATC	0.423													G|||	44	0.00878594	0.0318	0.0014	5008	,	,		18472	0.001		0.0	False		,,,				2504	0.0				p.T44M		Atlas-SNP	.											.	CYYR1	38	.	0			c.C131T						PASS	.	G	MET/THR	103,4303	79.9+/-118.3	2,99,2102	143	122	129		131	4.1	0.3	21	dbSNP_131	129	0,8600		0,0,4300	yes	missense	CYYR1	NM_052954.2	81	2,99,6402	AA,AG,GG		0.0,2.3377,0.7919	probably-damaging	44/155	27938630	103,12903	2203	4300	6503	SO:0001583	missense	116159	exon2			TAGGGCGTGGTTC	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.131C>T	21.37:g.27938630G>A	ENSP00000299340:p.Thr44Met	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	102	57	0.558824	NM_052954	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Missense_Mutation	SNP	ENST00000299340.4	37	CCDS13578.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	16.74	3.207186	0.58343	0.023377	0.0	ENSG00000166265	ENST00000299340;ENST00000435845;ENST00000400043	T;T;T	0.34275	1.37;1.37;1.37	5.05	4.09	0.47781	.	0.293803	0.38381	N	0.001715	T	0.28830	0.0715	L	0.44542	1.39	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.58077	0.742;0.832	T	0.09952	-1.0651	10	0.62326	D	0.03	-12.2221	13.1121	0.59278	0.0:0.1628:0.8372:0.0	.	44;44	Q96J86-2;Q96J86	.;CYYR1_HUMAN	M	44;152;44	ENSP00000299340:T44M;ENSP00000401313:T152M;ENSP00000382918:T44M	ENSP00000299340:T44M	T	-	2	0	CYYR1	26860501	1.000000	0.71417	0.274000	0.24659	0.976000	0.68499	4.318000	0.59190	2.731000	0.93534	0.591000	0.81541	ACG	G|0.994;A|0.006	0.006	strong		0.423	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		A	27938630	G	A	27938630	3	1	20	1	0	0	0	0	1	0	0	0	4211	1145	40	1	345	1	CYYR1	21	27938630	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10		27938630	20191265	150	4862										
DGCR8	54487	hgsc.bcm.edu	37	chr22	20077332	20077332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tcttgggaacgggaagcataCgggtaggggaggcatcagtc	17	7	2	0			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:20077332C>T	ENST00000351989.3	+	4	1450	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R341W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R341W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	341	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGAAGCATACGGGTAGGGGA	0.547																																					p.R341W		Atlas-SNP	.											.	DGCR8	53	.	0			c.C1021T						PASS	.						140	127	131					22																	20077332		2203	4300	6503	SO:0001583	missense	54487	exon4			AGCATACGGGTAG	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1021C>T	22.37:g.20077332C>T	ENSP00000263209:p.Arg341Trp	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454739	0.84209	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.53640	0.66;0.61;0.61	5.68	3.51	0.40186	.	0.048535	0.85682	D	0.000000	T	0.66005	0.2746	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.981	T	0.68250	-0.5458	10	0.87932	D	0	-10.7924	6.7678	0.23576	0.3527:0.5557:0.0:0.0916	.	341;341	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	W	341	ENSP00000263209:R341W;ENSP00000372488:R341W;ENSP00000384726:R341W	ENSP00000263209:R341W	R	+	1	2	DGCR8	18457332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.304000	0.51866	1.401000	0.46761	0.650000	0.86243	CGG	.	.	none		0.547	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			T	20077332	C	T	20077332	3	4	20	1	0	0	0	0	1	0	0	0	4464	527	19	1	1031	1	DGCR8	22	20077332	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		20077332	31227234	151	4863										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccaagtctccaacgaaggagGaagcaaagtcccctgagaag					rs370929798		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		Atlas-SNP	.											NEFH,rectum,carcinoma,-2,1	NEFH	178	1	0			c.G1933A						scavenged	.						82	88	86					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	56	9	0.160714	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885562	G	A	29885562	3	1	20	1	0	0	0	0	1	0	0	0	10314	1175	41	2	1947	2	NEFH	22	29885562	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	9808230	29885562	21419004	152	4864	95	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						PASS	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	58	13	0.224138	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	20	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	2	29885564	21419002	153	4865	95	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						scavenged	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	32	1	0.03125		WXS	Illumina HiSeq	Phase_I	61	18	0.295082	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	20	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-FF-A7CX-01A-12D-A382-10	3	29885567	21418999	154	4866	95	3								
APOBEC3D	140564	hgsc.bcm.edu	37	chr22	39421643	39421643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	caaattcgatgacaattatgCatccctgcaccgcacgctaa	6	13	0	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:39421643C>T	ENST00000216099.8	+	4	979	c.572C>T	c.(571-573)gCa>gTa	p.A191V	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.A191V	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	191					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GACAATTATGCATCCCTGCAC	0.517																																					p.A191V		Atlas-SNP	.											.	APOBEC3D	61	.	0			c.C572T						PASS	.						325	281	296					22																	39421643		2203	4300	6503	SO:0001583	missense	140564	exon4			ATTATGCATCCCT	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.572C>T	22.37:g.39421643C>T	ENSP00000216099:p.Ala191Val	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	160	66	0.4125	NM_152426	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	9.818	1.184973	0.21870	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.66638	-0.22;-0.22	2.44	-4.88	0.03113	APOBEC-like, C-terminal (1);	.	.	.	.	T	0.59729	0.2215	N	0.19112	0.55	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.51490	-0.8699	9	0.30078	T	0.28	.	2.9123	0.05740	0.1786:0.1616:0.5051:0.1547	.	191	Q96AK3	ABC3D_HUMAN	V	191	ENSP00000370980:A191V;ENSP00000216099:A191V	ENSP00000216099:A191V	A	+	2	0	APOBEC3D	37751589	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.396000	0.07278	-1.845000	0.01176	-1.262000	0.01453	GCA	.	.	none		0.517	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		T	39421643	C	T	39421643	3	4	20	1	0	0	0	0	1	0	0	0	792	710	25	2	586	2	APOBEC3D	22	39421643	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	9536076	39421643	11882923	155	4867										
CPT1B	1375	hgsc.bcm.edu	37	chr22	51012005	51012005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ccaggctgaggtggggagggGtcgtccaggatcctctggaa	18	9	1	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chr22:51012005G>A	ENST00000360719.2	-	10	1247	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	CPT1B_ENST00000405237.3_Silent_p.D370D|CPT1B_ENST00000457250.1_Silent_p.D336D|CPT1B_ENST00000395650.2_Silent_p.D370D|CPT1B_ENST00000312108.7_Silent_p.D370D|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.D167D	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	370					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGGGGAGGGGTCGTCCAGGA	0.607																																					p.D370D	Esophageal Squamous(170;988 1933 25577 30295 48163)	Atlas-SNP	.											.	CPT1B	61	.	0			c.C1110T						PASS	.						59	60	60					22																	51012005		2203	4300	6503	SO:0001819	synonymous_variant	1375	exon10			GGAGGGGTCGTCC	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1110C>T	22.37:g.51012005G>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_001145135	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	CCDS14098.1																																																																																			.	.	none		0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		A	51012005	G	A	51012005	2	1	20	1	0	0	0	0	0	0	0	1	3832	1252	44	2		2	CPT1B	22	51012005	Silent	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	11590362	51012005	292561	156	4868										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1585333	1585333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	cccacagagagaagaggttgCccgggatgctgaccgccgcc	14	14	0	4			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:1585333C>T	ENST00000381297.4	-	2	329	c.119G>A	c.(118-120)gGc>gAc	p.G40D	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGAGGTTGCCCGGGATGCT	0.677			T	CRLF2	"B-ALL, Downs associated ALL"																																p.G40D		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.G119A						PASS	.						45	46	46					X																	1585333		2203	4296	6499	SO:0001583	missense	286530	exon2			AGGTTGCCCGGGA	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.119G>A	X.37:g.1585333C>T	ENSP00000370697:p.Gly40Asp	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	40	34	0.85	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.820917	0.32237	.	.	ENSG00000182162	ENST00000381297	T	0.57107	0.42	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.165149	0.39274	U	0.001406	T	0.73505	0.3595	M	0.89478	3.035	0.19575	N	0.999967	D	0.89917	1.0	D	0.79784	0.993	T	0.66256	-0.5969	10	0.54805	T	0.06	.	12.2776	0.54744	0.0:1.0:0.0:0.0	.	40	Q86VZ1	P2RY8_HUMAN	D	40	ENSP00000370697:G40D	ENSP00000370697:G40D	G	-	2	0	P2RY8	1545333	0.995000	0.38212	0.099000	0.21106	0.036000	0.12997	4.100000	0.57762	0.637000	0.30526	0.279000	0.19357	GGC	.	.	none		0.677	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		T	1585333	C	T	1585333	3	4	20	1	0	0	0	0	1	0	0	0	11355	739	26	2	964	2	P2RY8	23	1585333	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10		1585333	153685227	157	4869										
NDP	4693	hgsc.bcm.edu	37	chrX	43809178	43809178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ggcagcagtgacaggaggaaCggaagggttgcttgaggaca	18	6	0	2	rs104894867		TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:43809178C>T	ENST00000378062.5	-	3	676	c.269G>A	c.(268-270)cGt>cAt	p.R90H	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	90	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		R -> C (in ND). {ECO:0000269|PubMed:14635119}.|R -> P (in ND). {ECO:0000269|PubMed:1307245}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						ACAGGAGGAACGGAAGGGTTG	0.642											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R90H		Atlas-SNP	.											.	NDP	12	.	0			c.G269A	GRCh37	CI056488|CM920503	NDP	I|M	rs104894867	PASS	.						60	42	48					X																	43809178		2203	4298	6501	SO:0001583	missense	4693	exon3			GAGGAACGGAAGG	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.269G>A	X.37:g.43809178C>T	ENSP00000367301:p.Arg90His	Somatic	95	0	0	919	WXS	Illumina HiSeq	Phase_I	74	69	0.932432	NM_000266	B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633579	0.87660	.	.	ENSG00000124479	ENST00000378062	D	0.90900	-2.75	5.96	5.96	0.96718	Cystine knot (1);Cystine knot, C-terminal (2);	0.063268	0.64402	D	0.000007	D	0.89921	0.6855	N	0.14661	0.345	0.47441	D	0.999423	D	0.71674	0.998	P	0.56788	0.806	D	0.91752	0.5413	10	0.72032	D	0.01	-23.3466	19.3572	0.94420	0.0:1.0:0.0:0.0	.	90	Q00604	NDP_HUMAN	H	90	ENSP00000367301:R90H	ENSP00000367301:R90H	R	-	2	0	NDP	43694122	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.656000	0.54467	2.524000	0.85096	0.600000	0.82982	CGT	.	.	alt		0.642	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		T	43809178	C	T	43809178	3	4	20	1	0	0	0	0	1	0	0	0	10250	536	19	1	136	1	NDP	23	43809178	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	42223845	43809178	111461382	158	4870										
ASB12	142689	hgsc.bcm.edu	37	chrX	63444983	63444983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	ctgcggccaaatagagggggCcagaacatgaagctatgttt	13	8	0	3			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:63444983C>T	ENST00000396130.2	-	1	520	c.521G>A	c.(520-522)gGc>gAc	p.G174D	MTMR8_ENST00000453546.1_Missense_Mutation_p.G558D|ASB12_ENST00000362002.2_Missense_Mutation_p.G183D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ATAGAGGGGGCCAGAACATGA	0.562																																					p.G183D		Atlas-SNP	.											.	ASB12	102	.	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.G548A						PASS	.						76	68	71					X																	63444983		2203	4300	6503	SO:0001583	missense	142689	exon2			AGGGGGCCAGAAC	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.521G>A	X.37:g.63444983C>T	ENSP00000379435:p.Gly174Asp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	71	64	0.901408	NM_130388	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.066306	0.76187	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.76578	0.01;0.04;-1.03	4.0	4.0	0.46444	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	L	0.27053	0.805	0.36377	D	0.861693	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85746	0.1340	10	0.66056	D	0.02	-2.8088	14.2368	0.65932	0.0:1.0:0.0:0.0	.	558;174	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	183;174;183;558	ENSP00000355195:G183D;ENSP00000379435:G174D;ENSP00000394003:G558D	ENSP00000354626:G183D	G	-	2	0	ASB12;MTMR8	63361708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.023000	0.76437	1.986000	0.57962	0.468000	0.43344	GGC	.	.	none		0.562	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	63444983	C	T	63444983	3	4	20	1	0	0	0	0	1	0	0	0	1016	739	26	2	416	2	ASB12	23	63444983	Missense_Mutation	SNP	C	TCGA-FF-A7CX-01A-12D-A382-10	19635805	63444983	91825577	159	4871										
AWAT2	158835	hgsc.bcm.edu	37	chrX	69261726	69261726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	atgctggtcaaacagtttacGtagggcatcaatatagagtg	11	6	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:69261726G>A	ENST00000276101.3	-	7	939	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	312					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AACAGTTTACGTAGGGCATCA	0.502																																					p.R312C	NSCLC(80;1334 1436 9350 24214 26427)	Atlas-SNP	.											.	AWAT2	36	.	0			c.C934T						PASS	.						165	127	140					X																	69261726		2203	4300	6503	SO:0001583	missense	158835	exon7			GTTTACGTAGGGC	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.934C>T	X.37:g.69261726G>A	ENSP00000421172:p.Arg312Cys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	108	89	0.824074	NM_001002254	Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	G	3.291	-0.144980	0.06627	.	.	ENSG00000147160	ENST00000276101	D	0.93366	-3.21	4.94	-0.467	0.12150	.	0.674304	0.14683	N	0.304642	D	0.84660	0.5521	N	0.21240	0.645	0.09310	N	1	B	0.25486	0.127	B	0.23419	0.046	T	0.73285	-0.4031	10	0.49607	T	0.09	.	4.6613	0.12643	0.3968:0.0:0.4605:0.1427	.	312	Q6E213	AWAT2_HUMAN	C	312	ENSP00000421172:R312C	ENSP00000421172:R312C	R	-	1	0	AWAT2	69178451	0.002000	0.14202	0.000000	0.03702	0.087000	0.18053	1.168000	0.31859	-0.386000	0.07821	-0.190000	0.12839	CGT	.	.	none		0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		A	69261726	G	A	69261726	3	1	20	1	0	0	0	0	1	0	0	0	1235	1145	40	1	71	1	AWAT2	23	69261726	Missense_Mutation	SNP	G	TCGA-FF-A7CX-01A-12D-A382-10	5816743	69261726	86008834	160	4872										
SLC6A14	11254	hgsc.bcm.edu	37	chrX	115584183	115584183	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	tatcatacatgtttcgtaggTtttgatttggcattcattgc	8	6	2	1			TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:115584183T>A	ENST00000371900.4	+	9	1249	c.1161T>A	c.(1159-1161)ggT>ggA	p.G387G		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	387					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTTTCGTAGGTTTTGATTTGG	0.318																																					p.G387G		Atlas-SNP	.											.	SLC6A14	56	.	0			c.T1161A						PASS	.						131	114	120					X																	115584183		2203	4300	6503	SO:0001630	splice_region_variant	11254	exon9			CGTAGGTTTTGAT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1160-1T>A	X.37:g.115584183T>A		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	111	91	0.81982	NM_007231	Q5H942	Silent	SNP	ENST00000371900.4	37	CCDS14570.1																																																																																			.	.	none		0.318	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Silent	A	115584183	T	A	115584183	5	1	20	1	0	0	0	0	0	0	1	0	14677	1739	60	5	1195	5	SLC6A14	23	115584183	Splice_Site	SNP	T	TCGA-FF-A7CX-01A-12D-A382-10	46322457	115584183	39686377	161	4873										
SLC6A14	11254	hgsc.bcm.edu	37	chrX	115584299	115584299	+	Frame_Shift_Del	DEL	C	C	-													0.0448717948717949	7	1	0.731804338367829	0	0.810211946050096	0.00309597523219814	0.0141038871689026	0	gggtctcgattctcagtttgCttcgattggtaagtaatact							TCGA-FF-A7CX-01A-12D-A382-10	TCGA-FF-A7CX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d394512-e495-472b-89e0-bb402f714949	3a9f03ca-8618-47eb-80a8-120d835ab714	g.chrX:115584299delC	ENST00000371900.4	+	9	1365	c.1277delC	c.(1276-1278)gctfs	p.A426fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	426					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTCAGTTTGCTTCGATTGGT	0.378																																					p.A426fs		Pindel,Atlas-Indel	.											.	SLC6A14	56	.	0			c.1276delG						PASS	.						159	134	142					X																	115584299		2203	4300	6503	SO:0001589	frameshift_variant	11254	exon9			.	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1277delC	X.37:g.115584299delC	ENSP00000360967:p.Ala426fs	Somatic	162	.	.		WXS	Illumina HiSeq	Phase_I	113	64	0.566	NM_007231	Q5H942	Frame_Shift_Del	DEL	ENST00000371900.4	37	CCDS14570.1																																																																																			.	.	none		0.378	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			-	115584299	C	-	115584299	7	5	20	1	0	1	0	1	0	0	0	0	14677	797	28	0	1311	0	SLC6A14	23	115584299	Frame_Shift_Del	DEL	C	TCGA-FF-A7CX-01A-12D-A382-10	116	115584299	39686261	162	4874										
C1orf86	199990	hgsc.bcm.edu	37	chr1	2121165	2121165	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgctcaccacgtcacgtcttCtgtgctttcggccaagcact	8	16	4	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:2121165C>T	ENST00000378546.4	-	4	550	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	C1orf86_ENST00000378545.3_Missense_Mutation_p.E279K|C1orf86_ENST00000400919.3_5'UTR|AL590822.2_ENST00000597060.1_5'Flank|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	176				ED -> KN (in Ref. 2; AAQ04817). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTCACGTCTTCTGTGCTTTCG	0.701																																					p.E176K		Atlas-SNP	.											C1orf86,NS,carcinoma,0,1	C1orf86	20	1	0			c.G526A						scavenged	.						69	55	60					1																	2121165		2203	4300	6503	SO:0001583	missense	199990	exon4			CGTCTTCTGTGCT	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.526G>A	1.37:g.2121165C>T	ENSP00000367808:p.Glu176Lys	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_182533	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	CCDS38.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353417	0.61293	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.53640	0.66;0.61	5.55	4.61	0.57282	.	0.935050	0.08854	N	0.884017	T	0.59810	0.2221	.	.	.	0.09310	N	1	P	0.50156	0.932	P	0.53450	0.726	T	0.52041	-0.8628	9	0.44086	T	0.13	-4.7049	15.2288	0.73372	0.0:0.8587:0.1413:0.0	.	176	Q6NZ36	CA086_HUMAN	K	176;279	ENSP00000367808:E176K;ENSP00000367807:E279K	ENSP00000367807:E279K	E	-	1	0	C1orf86	2111025	0.193000	0.23313	0.017000	0.16124	0.053000	0.15095	2.307000	0.43682	1.303000	0.44873	0.456000	0.33151	GAA	.	.	none		0.701	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		T	2121165	C	T	2121165	3	4	21	1	0	0	0	0	1	0	0	0	2063	922	32	2	260	2	C1orf86	1	2121165	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		2121165	247129456	1	4875										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855647	12855647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggctacctattggaagaagaCatgaagtgtctctcccagta	10	9	1	3	rs200536957		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:12855647C>T	ENST00000332296.7	+	4	1030	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PRAMEF1_ENST00000400814.3_Silent_p.D64D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAAGACATGAAGTGTC	0.498																																					p.D309D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,+2,2	PRAMEF1	78	2	0			c.C927T						scavenged	.						43	48	46					1																	12855647		2197	4275	6472	SO:0001819	synonymous_variant	65121	exon4			AGAAGACATGAAG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.927C>T	1.37:g.12855647C>T		Somatic	376	61	0.162234		WXS	Illumina HiSeq	Phase_I	231	23	0.0995671	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			C|0.999;T|0.001	0.001	weak		0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855647	C	T	12855647	2	4	21	1	0	0	0	0	0	0	0	1	12425	477	17	2		2	PRAMEF1	1	12855647	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	10734482	12855647	236394974	2	4876										
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12942173	12942173	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcctcttggcattgaggaagCacccatgggccatagcttca	10	12	2	1	rs201789683		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:12942173C>G	ENST00000235349.5	-	3	447	c.377G>C	c.(376-378)tGc>tCc	p.C126S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	126					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGAGGAAGCACCCATGGGC	0.493																																					p.C126S		Atlas-SNP	.											PRAMEF4,NS,carcinoma,0,1	PRAMEF4	62	1	0			c.G377C						scavenged	.						44	56	52					1																	12942173		1381	2629	4010	SO:0001583	missense	400735	exon3			AGGAAGCACCCAT		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.377G>C	1.37:g.12942173C>G	ENSP00000235349:p.Cys126Ser	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	33	4	0.121212	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	8.575	0.881031	0.17467	.	.	ENSG00000243073	ENST00000235349	T	0.18016	2.24	1.35	0.315	0.15852	.	1.371720	0.04624	N	0.402516	T	0.19406	0.0466	L	0.53671	1.685	0.09310	N	1	P	0.50272	0.933	P	0.44811	0.461	T	0.23190	-1.0195	10	0.33940	T	0.23	.	5.2546	0.15540	0.0:0.6297:0.3703:0.0	.	126	O60810	PRAM4_HUMAN	S	126	ENSP00000235349:C126S	ENSP00000235349:C126S	C	-	2	0	PRAMEF4	12864760	0.002000	0.14202	0.003000	0.11579	0.008000	0.06430	0.188000	0.17018	0.112000	0.17975	0.194000	0.17425	TGC	C|0.500;G|0.500	0.500	weak		0.493	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12942173	C	G	12942173	3	3	21	1	0	0	0	0	1	0	0	0	12437	710	25	4	1067	4	PRAMEF4	1	12942173	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	86526	12942173	236308448	3	4877										
ARID1A	8289	hgsc.bcm.edu	37	chr1	27056217	27056217	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctaacccatactcgcagcaaCagggacctccgtcaggaccg	9	16	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:27056217C>T	ENST00000324856.7	+	2	1584	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q405*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q22*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	405					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.Q405*(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)		CTCGCAGCAACAGGGACCTCC	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.Q405X		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	ARID1A,NS,carcinoma,0,1	ARID1A	842	1	1	Substitution - Nonsense(1)	endometrium(1)	c.C1213T						PASS	.						90	93	92					1																	27056217		2203	4300	6503	SO:0001587	stop_gained	8289	exon2			CAGCAACAGGGAC	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.1213C>T	1.37:g.27056217C>T	ENSP00000320485:p.Gln405*	Somatic	376	1	0.00265957		WXS	Illumina HiSeq	Phase_I	269	99	0.36803	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.467169	0.97590	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-7.4344	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	405;405;22;22	.	ENSP00000320485:Q405X	Q	+	1	0	ARID1A	26928804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.752000	0.68728	2.937000	0.99478	0.650000	0.86243	CAG	.	.	none		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27056217	C	T	27056217	4	4	21	1	0	0	0	0	0	1	0	0	913	479	17	2	1219	2	ARID1A	1	27056217	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	14114044	27056217	222194404	4	4878										
ZSCAN20	7579	hgsc.bcm.edu	37	chr1	33959918	33959918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgtcctacagaagctgtttgCcaacctcttgactggggaga	11	10	1	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:33959918C>T	ENST00000361328.3	+	8	2127	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	658					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCTGTTTGCCAACCTCTTG	0.448																																					p.C658C		Atlas-SNP	.											.	ZSCAN20	107	.	0			c.C1974T						PASS	.						71	70	70					1																	33959918		1865	4109	5974	SO:0001819	synonymous_variant	7579	exon8			TGTTTGCCAACCT	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1974C>T	1.37:g.33959918C>T		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	169	73	0.431953	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	CCDS41300.1																																																																																			.	.	none		0.448	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		T	33959918	C	T	33959918	2	4	21	1	0	0	0	0	0	0	0	1	18229	747	26	2		2	ZSCAN20	1	33959918	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	6903701	33959918	215290703	5	4879										
GJA9	81025	hgsc.bcm.edu	37	chr1	39341674	39341674	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tacacccagaacaagcattcGaaatatgaacaggatggtga	9	8	0	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:39341674G>A	ENST00000360786.3	-	1	349	c.97C>T	c.(97-99)Cga>Tga	p.R33*	MYCBP_ENST00000397572.2_5'Flank|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Nonsense_Mutation_p.R33*|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.R33*			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	33					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ACAAGCATTCGAAATATGAAC	0.463																																					p.R33X		Atlas-SNP	.											GJA9,NS,carcinoma,+1,2	GJA9	55	2	0			c.C97T						PASS	.						232	234	234					1																	39341674		2203	4300	6503	SO:0001587	stop_gained	81025	exon2			GCATTCGAAATAT	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.97C>T	1.37:g.39341674G>A	ENSP00000354020:p.Arg33*	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	88	32	0.363636	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	37	6.181663	0.97352	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	.	.	.	4.56	1.49	0.22878	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2658	0.20925	0.1684:0.0:0.6824:0.1491	.	.	.	.	X	33	.	ENSP00000350415:R33X	R	-	1	2	GJA9	39114261	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	3.814000	0.55643	0.198000	0.20407	0.655000	0.94253	CGA	.	.	none		0.463	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		A	39341674	G	A	39341674	4	1	21	1	0	0	0	0	0	1	0	0	6406	1066	37	1	1454	1	GJA9	1	39341674	Nonsense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	5381756	39341674	209908947	6	4880										
NEGR1	257194	hgsc.bcm.edu	37	chr1	72748159	72748159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgagcaacaagcaccctgcaCcaacagcatcatgtccatcc	6	17	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:72748159C>T	ENST00000357731.5	-	1	258	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	NEGR1_ENST00000434200.1_Missense_Mutation_p.V5M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	7					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCACCCTGCACCAACAGCATC	0.642																																					p.V7M		Atlas-SNP	.											NEGR1,NS,carcinoma,+2,1	NEGR1	60	1	0			c.G19A						scavenged	.						93	72	79					1																	72748159		2203	4300	6503	SO:0001583	missense	257194	exon1			CCTGCACCAACAG	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.19G>A	1.37:g.72748159C>T	ENSP00000350364:p.Val7Met	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	235	5	0.0212766	NM_173808	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497208	0.85069	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72942	0.57;-0.7	5.25	5.25	0.73442	.	0.067156	0.64402	D	0.000017	T	0.67832	0.2935	N	0.24115	0.695	0.39188	D	0.962913	D;D	0.65815	0.994;0.995	D;D	0.66084	0.937;0.941	T	0.72616	-0.4239	10	0.52906	T	0.07	-2.5891	16.3288	0.82997	0.0:1.0:0.0:0.0	.	5;7	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	M	7;5	ENSP00000350364:V7M;ENSP00000413294:V5M	ENSP00000350364:V7M	V	-	1	0	NEGR1	72520747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.096000	0.50243	2.457000	0.83068	0.561000	0.74099	GTG	.	.	none		0.642	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		T	72748159	C	T	72748159	3	4	21	1	0	0	0	0	1	0	0	0	10317	507	18	2	1073	2	NEGR1	1	72748159	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	33406485	72748159	176502462	7	4881										
TNNI3K	100144878	hgsc.bcm.edu	37	chr1	74957869	74957869	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gaaccggggaggacctggccGgagtcatgtggcagcattaa	16	9	1	0	rs200277602		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:74957869G>A	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R871Q|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R858Q|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R757Q			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						GGACCTGGCCGGAGTCATGTG	0.488																																					p.R858Q		Atlas-SNP	.											TNNI3K,NS,carcinoma,-1,1	.	.	1	0			c.G2573A						scavenged	.						195	198	197					1																	74957869		2203	4300	6503	SO:0001627	intron_variant	100526835	exon25			CTGGCCGGAGTCA			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8810C>T	1.37:g.74957869G>A		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	164	3	0.0182927	NM_001112808		Missense_Mutation	SNP	ENST00000294635.4	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116159	0.77323	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74421	-0.84;-0.84;-0.82	5.7	3.83	0.44106	.	0.060336	0.64402	N	0.000002	T	0.45276	0.1334	L	0.34521	1.04	0.41952	D	0.990664	P;B	0.34662	0.462;0.341	B;B	0.23018	0.033;0.043	T	0.51919	-0.8644	10	0.62326	D	0.03	.	12.3332	0.55051	0.1372:0.0:0.8628:0.0	.	757;858	Q59H18;Q59H18-1	TNI3K_HUMAN;.	Q	858;858;757	ENSP00000450895:R858Q;ENSP00000359928:R858Q;ENSP00000322251:R757Q	ENSP00000322251:R757Q	R	+	2	0	RP11-653A5.2;AC093158.1	74730457	0.999000	0.42202	0.999000	0.59377	0.577000	0.36160	4.251000	0.58778	0.766000	0.33244	0.655000	0.94253	CGG	.	.	weak		0.488	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			A	74957869	G	A	74957869	1	1	21	0	1	0	0	0	0	0	0	0	16326	1116	39	1		1	TNNI3K	1	74957869	Intron	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2209710	74957869	174292752	8	4882										
PTBP2	58155	hgsc.bcm.edu	37	chr1	97243142	97243142	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acataatcttaatttccagcGtgctcaggcagttcttcaag	7	10	4	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:97243142G>A	ENST00000426398.2	+	6	477	c.434G>A	c.(433-435)cGt>cAt	p.R145H	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Splice_Site_p.R145H|PTBP2_ENST00000609116.1_Splice_Site_p.R145H|PTBP2_ENST00000370197.1_Splice_Site_p.R145H|PTBP2_ENST00000541987.1_Splice_Site_p.R114H|PTBP2_ENST00000394184.3_Splice_Site_p.R156H	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	145					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AATTTCCAGCGTGCTCAGGCA	0.438																																					p.R145H		Atlas-SNP	.											.	PTBP2	62	.	0			c.G434A						PASS	.						68	66	67					1																	97243142		2203	4300	6503	SO:0001630	splice_region_variant	58155	exon6			TCCAGCGTGCTCA	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.433-1G>A	1.37:g.97243142G>A		Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	216	98	0.453704	NM_021190	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813104	0.90707	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.77750	0.89;0.86;0.86;0.89;0.87;-1.12	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.69463	2.115	0.80722	D	1	B;D;D;B;B;B	0.76494	0.069;0.999;0.999;0.276;0.227;0.397	B;D;D;B;B;B	0.76071	0.059;0.987;0.984;0.049;0.03;0.071	D	0.84408	0.0564	10	0.52906	T	0.07	-2.5786	20.5632	0.99335	0.0:0.0:1.0:0.0	.	153;156;145;145;145;145	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	H	145;145;145;145;156;114;135	ENSP00000236228:R145H;ENSP00000359217:R145H;ENSP00000359216:R145H;ENSP00000412788:R145H;ENSP00000377738:R156H;ENSP00000442475:R114H	ENSP00000236228:R145H	R	+	2	0	PTBP2	97015730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.143000	0.94623	2.937000	0.99478	0.650000	0.86243	CGT	.	.	none		0.438	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		Missense_Mutation	A	97243142	G	A	97243142	5	1	21	1	0	0	0	0	0	0	1	0	12726	1159	40	1	456	1	PTBP2	1	97243142	Splice_Site	SNP	G	TCGA-FM-8000-01A-11D-2210-10	22285273	97243142	152007479	9	4883										
FAM40A	85369	hgsc.bcm.edu	37	chr1	110593021	110593021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgagctgccagagctgacggCggagagtttggtgagtggct	18	7	0	5			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:110593021C>T	ENST00000369795.3	+	18	1968	c.1946C>T	c.(1945-1947)gCg>gTg	p.A649V	STRIP1_ENST00000369796.1_Missense_Mutation_p.A554V	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	649					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAGCTGACGGCGGAGAGTTTG	0.587																																					p.A649V		Atlas-SNP	.											FAM40A,colon,carcinoma,0,1	STRIP1	1	1	0			c.C1946T						scavenged	.						98	81	86					1																	110593021		2203	4300	6503	SO:0001583	missense	85369	exon18			TGACGGCGGAGAG	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1946C>T	1.37:g.110593021C>T	ENSP00000358810:p.Ala649Val	Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	147	2	0.0136054	NM_033088	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737536	0.69304	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.49139	0.8;0.79	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.62723	1.935	0.80722	D	1	B;P	0.38551	0.377;0.636	B;B	0.35770	0.104;0.21	T	0.31916	-0.9926	10	0.38643	T	0.18	-14.7663	18.4253	0.90607	0.0:1.0:0.0:0.0	.	554;649	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	V	554;649	ENSP00000358811:A554V;ENSP00000358810:A649V	ENSP00000358810:A649V	A	+	2	0	FAM40A	110394544	1.000000	0.71417	0.599000	0.28851	0.927000	0.56198	7.750000	0.85110	2.540000	0.85666	0.561000	0.74099	GCG	.	.	none		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		T	110593021	C	T	110593021	3	4	21	1	0	0	0	0	1	0	0	0	5560	768	27	1	2016	1	FAM40A	1	110593021	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	13349879	110593021	138657600	10	4884										
VANGL1	81839	hgsc.bcm.edu	37	chr1	116206595	116206595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gacctgggcactttttttccGcaagcggagagctgacatgc	12	11	0	2	rs148341022		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:116206595G>A	ENST00000355485.2	+	4	789	c.518G>A	c.(517-519)cGc>cAc	p.R173H	VANGL1_ENST00000369510.4_Missense_Mutation_p.R171H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R173H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R173H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	173					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.F171fs*93(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTTTTTTTCCGCAAGCGGAGA	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.0				p.R173H		Atlas-SNP	.											.	VANGL1	65	.	1	Deletion - Frameshift(1)	kidney(1)	c.G518A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	157	164	162		512,518,518	4.4	1	1	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VANGL1	NM_001172411.1,NM_001172412.1,NM_138959.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	171/523,173/525,173/525	116206595	1,13005	2203	4300	6503	SO:0001583	missense	81839	exon4			TTTTCCGCAAGCG	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.518G>A	1.37:g.116206595G>A	ENSP00000347672:p.Arg173His	Somatic	344	1	0.00290698		WXS	Illumina HiSeq	Phase_I	214	82	0.383178	NM_138959	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625876	0.66901	0.0	1.16E-4	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.93638	0.6962	10	0.72032	D	0.01	-0.2344	14.2916	0.66281	0.0719:0.0:0.9281:0.0	.	171;173	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	H	173;171;173;173	ENSP00000347672:R173H;ENSP00000358523:R171H;ENSP00000310800:R173H;ENSP00000358522:R173H	ENSP00000310800:R173H	R	+	2	0	VANGL1	116008118	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	9.476000	0.97823	1.397000	0.46682	-0.142000	0.14014	CGC	G|1.000;A|0.000	0.000	weak		0.493	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			A	116206595	G	A	116206595	3	1	21	1	0	0	0	0	1	0	0	0	17116	1087	38	1	528	1	VANGL1	1	116206595	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	5613574	116206595	133044026	11	4885										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtcaccagtctgccgacaggTgcctccattgacacaaggtg	11	13	2	1	rs200464440		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.T235S		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2	348	2	0			c.A703T						scavenged	.						50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GACAGGTGCCTCC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser	Somatic	403	4	0.00992556		WXS	Illumina HiSeq	Phase_I	265	3	0.0113208	NM_001200001	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC	.	.	weak		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	21	1	0	0	0	0	1	0	0	0	10548	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	4333073	120539668	128710953	12	4886										
ANKRD35	148741	hgsc.bcm.edu	37	chr1	145561654	145561654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gacagcaactgactaccaatGgggcacagacctttggccct	10	13	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:145561654G>A	ENST00000355594.4	+	10	1429	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	448										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACTACCAATGGGGCACAGAC	0.572																																					p.G448R	Melanoma(9;127 754 22988 51047)	Atlas-SNP	.											.	ANKRD35	96	.	0			c.G1342A						PASS	.						61	70	67					1																	145561654		2203	4300	6503	SO:0001583	missense	148741	exon10			ACCAATGGGGCAC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1342G>A	1.37:g.145561654G>A	ENSP00000347802:p.Gly448Arg	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	148	44	0.297297	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	2.695	-0.272176	0.05716	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	D	0.81821	-1.54	5.08	1.06	0.20224	.	0.359955	0.20369	N	0.093688	T	0.51601	0.1684	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41752	-0.9491	10	0.22706	T	0.39	-7.101	4.7491	0.13052	0.2659:0.1576:0.5765:0.0	.	448	Q8N283	ANR35_HUMAN	R	357;448	ENSP00000347802:G448R	ENSP00000347802:G448R	G	+	1	0	ANKRD35	144273011	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.130000	0.15850	0.012000	0.14892	0.655000	0.94253	GGG	.	.	none		0.572	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145561654	G	A	145561654	3	1	21	1	0	0	0	0	1	0	0	0	664	1348	47	2	1380	2	ANKRD35	1	145561654	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	25021986	145561654	103688967	13	4887										
NBPF15	284565	hgsc.bcm.edu	37	chr1	148594455	148594455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcttacaggactcactggatAgatgttattcgactccgtca	8	10	3	1	rs1043751	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:148594455A>G	ENST00000369187.3	+	19	2317	c.1828A>G	c.(1828-1830)Aga>Gga	p.R610G	NBPF15_ENST00000442702.2_Missense_Mutation_p.R610G	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	610	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCACTGGATAGATGTTATTC	0.453																																					p.R610G		Atlas-SNP	.											NBPF15,NS,carcinoma,-1,1	NBPF15	20	1	0			c.A1828G						scavenged	.						193	250	231					1																	148594455		2203	4299	6502	SO:0001583	missense	284565	exon19			CTGGATAGATGTT	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1828A>G	1.37:g.148594455A>G	ENSP00000358188:p.Arg610Gly	Somatic	218	32	0.146789		WXS	Illumina HiSeq	Phase_I	214	29	0.135514	NM_173638	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	3.941	-0.014253	0.07681	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.07908	3.15;3.15	0.502	-0.965	0.10323	DUF1220 (2);	.	.	.	.	T	0.02083	0.0065	L	0.45470	1.425	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.44544	-0.9321	8	0.38643	T	0.18	.	.	.	.	rs1043751;rs3183409	610	Q8N660	NBPFF_HUMAN	G	610	ENSP00000416864:R610G;ENSP00000358188:R610G	ENSP00000358188:R610G	R	+	1	2	NBPF15	146861079	0.958000	0.32768	0.000000	0.03702	0.002000	0.02628	-0.245000	0.08890	-0.355000	0.08199	0.310000	0.20435	AGA	A|0.996;G|0.004	0.004	strong		0.453	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		G	148594455	A	G	148594455	3	3	21	1	0	0	0	0	1	0	0	0	10195	412	15	3	1886	3	NBPF15	1	148594455	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3032801	148594455	100656166	14	4888										
TCHHL1	126637	hgsc.bcm.edu	37	chr1	152057648	152057648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agatctcactggtgagggatAcactgcaaagctctgggcct	12	10	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:152057648A>G	ENST00000368806.1	-	3	2574	c.2510T>C	c.(2509-2511)gTa>gCa	p.V837A		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	837							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGTGAGGGATACACTGCAAAG	0.468																																					p.V837A		Atlas-SNP	.											TCHHL1,NS,carcinoma,-1,1	TCHHL1	132	1	0			c.T2510C						scavenged	.						258	224	236					1																	152057648		2203	4300	6503	SO:0001583	missense	126637	exon3			AGGGATACACTGC		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2510T>C	1.37:g.152057648A>G	ENSP00000357796:p.Val837Ala	Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	339	6	0.0176991	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	2.284	-0.363936	0.05103	.	.	ENSG00000182898	ENST00000368806	T	0.26660	1.72	4.38	-0.491	0.12045	.	0.877022	0.09266	N	0.825830	T	0.02193	0.0068	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.07990	T	0.79	-0.1025	4.5167	0.11939	0.2382:0.0:0.5499:0.2119	.	837	Q5QJ38	TCHL1_HUMAN	A	837	ENSP00000357796:V837A	ENSP00000357796:V837A	V	-	2	0	TCHHL1	150324272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.175000	0.03102	-0.004000	0.14419	-1.000000	0.02509	GTA	.	.	none		0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		G	152057648	A	G	152057648	3	3	21	1	0	0	0	0	1	0	0	0	15698	391	14	2	208	2	TCHHL1	1	152057648	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3463193	152057648	97192973	15	4889										
KPRP	448834	hgsc.bcm.edu	37	chr1	152732767	152732767	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtccctgtgtgccccagtgcCagacccagggctcctatggg	13	15	0	1	rs569937176		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:152732767C>T	ENST00000606109.1	+	1	731	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.Q235*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	235						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCAGTGCCAGACCCAGGG	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.0				p.Q235X		Atlas-SNP	.											.	KPRP	152	.	0			c.C703T						PASS	.						76	81	80					1																	152732767		2203	4300	6503	SO:0001587	stop_gained	448834	exon2			CAGTGCCAGACCC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.703C>T	1.37:g.152732767C>T	ENSP00000475216:p.Gln235*	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	129	30	0.232558	NM_001025231		Nonsense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336488	0.60963	.	.	ENSG00000203786	ENST00000368773	.	.	.	5.78	2.71	0.32032	.	0.165834	0.29152	N	0.012987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1297	4.9823	0.14172	0.1513:0.6187:0.1469:0.083	.	.	.	.	X	235	.	ENSP00000357762:Q235X	Q	+	1	0	KPRP	150999391	0.001000	0.12720	0.141000	0.22245	0.397000	0.30659	0.391000	0.20784	0.885000	0.36088	0.655000	0.94253	CAG	.	.	none		0.602	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732767	C	T	152732767	4	4	21	1	0	0	0	0	0	1	0	0	8436	595	21	2	705	2	KPRP	1	152732767	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	675119	152732767	96517854	16	4890										
ATP8B2	57198	hgsc.bcm.edu	37	chr1	154318340	154318340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cacctccctgccagtcctggCtatgggggtctttgatcagg	12	13	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:154318340C>A	ENST00000368489.3	+	24	2858	c.2858C>A	c.(2857-2859)gCt>gAt	p.A953D		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	939					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)	p.A953V(1)	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)			CCAGTCCTGGCTATGGGGGTC	0.517																																					p.A953D		Atlas-SNP	.											ATP8B2,NS,carcinoma,0,1	ATP8B2	158	1	1	Substitution - Missense(1)	prostate(1)	c.C2858A						scavenged	.						112	100	104					1																	154318340		2203	4300	6503	SO:0001583	missense	57198	exon24			TCCTGGCTATGGG	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.2858C>A	1.37:g.154318340C>A	ENSP00000357475:p.Ala953Asp	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	84	2	0.0238095	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422702	0.62733	.	.	ENSG00000143515	ENST00000368489	D	0.91295	-2.82	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	D	0.94427	0.8207	H	0.96547	3.84	0.80722	D	1	P	0.37061	0.58	P	0.47864	0.559	D	0.95287	0.8391	10	0.62326	D	0.03	.	12.6699	0.56862	0.0:0.8336:0.1664:0.0	.	953	P98198-3	.	D	953	ENSP00000357475:A953D	ENSP00000357475:A953D	A	+	2	0	ATP8B2	152584964	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.859000	0.55987	2.521000	0.84997	0.561000	0.74099	GCT	.	.	none		0.517	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		A	154318340	C	A	154318340	3	1	21	1	0	0	0	0	1	0	0	0	1195	797	28	4	3082	4	ATP8B2	1	154318340	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1585573	154318340	94932281	17	4891										
CHRNB2	1141	hgsc.bcm.edu	37	chr1	154544532	154544532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gctgagcctgcaccagtggcGggccccgggcgctcagggga	18	14	1	1	rs55857552	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:154544532G>A	ENST00000368476.3	+	5	1497	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	411					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CACCAGTGGCGGGCCCCGGGC	0.731													G|||	4	0.000798722	0.0	0.0014	5008	,	,		12826	0.0		0.003	False		,,,				2504	0.0				p.A411A		Atlas-SNP	.											.	CHRNB2	74	.	0			c.G1233A						PASS	.	G		0,2680		0,0,1340	2	2	2		1233	-7.7	0	1	dbSNP_129	2	3,5683		0,3,2840	no	coding-synonymous	CHRNB2	NM_000748.2		0,3,4180	AA,AG,GG		0.0528,0.0,0.0359		411/503	154544532	3,8363	1340	2843	4183	SO:0001819	synonymous_variant	1141	exon5			AGTGGCGGGCCCC	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1233G>A	1.37:g.154544532G>A		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	6	4	0.666667	NM_000748	Q9UEH9	Silent	SNP	ENST00000368476.3	37	CCDS1070.1																																																																																			G|0.992;A|0.008	0.008	strong		0.731	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154544532	G	A	154544532	2	1	21	1	0	0	0	0	0	0	0	1	3391	1103	39	1		1	CHRNB2	1	154544532	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	226192	154544532	94706089	18	4892										
OR10K2	391107	hgsc.bcm.edu	37	chr1	158389824	158389824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acaatggagttataatagtgTaggatactgatattagagca	10	3	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:158389824T>C	ENST00000314902.2	-	1	832	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TATAATAGTGTAGGATACTGA	0.383																																					p.Y278C		Atlas-SNP	.											OR10K2,NS,carcinoma,-1,1	OR10K2	69	1	0			c.A833G						scavenged	.						94	97	96					1																	158389824		2203	4300	6503	SO:0001583	missense	391107	exon1			ATAGTGTAGGATA	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.833A>G	1.37:g.158389824T>C	ENSP00000324251:p.Tyr278Cys	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	185	3	0.0162162	NM_001004476		Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	t	11.54	1.668085	0.29604	.	.	ENSG00000180708	ENST00000314902	T	0.00318	8.12	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001216	T	0.00468	0.0015	M	0.91196	3.185	0.35725	D	0.817456	D	0.76494	0.999	D	0.68943	0.961	T	0.53578	-0.8419	10	0.87932	D	0	.	12.7219	0.57147	0.0:0.0:0.0:1.0	.	278	Q6IF99	O10K2_HUMAN	C	278	ENSP00000324251:Y278C	ENSP00000324251:Y278C	Y	-	2	0	OR10K2	156656448	0.994000	0.37717	0.896000	0.35187	0.002000	0.02628	3.237000	0.51344	1.890000	0.54733	0.482000	0.46254	TAC	.	.	none		0.383	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		C	158389824	T	C	158389824	3	2	21	1	0	0	0	0	1	0	0	0	10914	1638	57	2	107	2	OR10K2	1	158389824	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	3845292	158389824	90860797	19	4893										
USF1	7391	hgsc.bcm.edu	37	chr1	161012436	161012436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggcaatagccacactggttGggtcttccccagtagccact	10	13	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:161012436G>A	ENST00000368021.3	-	4	287	c.83C>T	c.(82-84)cCa>cTa	p.P28L	USF1_ENST00000368020.1_Missense_Mutation_p.P28L|USF1_ENST00000368019.1_Missense_Mutation_p.P28L|USF1_ENST00000435396.1_5'UTR	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	28					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CACACTGGTTGGGTCTTCCCC	0.522																																					p.P28L		Atlas-SNP	.											.	USF1	29	.	0			c.C83T						PASS	.						54	53	54					1																	161012436		2203	4300	6503	SO:0001583	missense	7391	exon4			CTGGTTGGGTCTT	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.83C>T	1.37:g.161012436G>A	ENSP00000357000:p.Pro28Leu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	145	31	0.213793	NM_001276373	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526071	0.64860	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000368019;ENST00000531842	D;D;D;D	0.93076	-3.14;-3.14;-3.16;-2.74	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	L	0.58101	1.795	0.80722	D	1	P	0.43938	0.822	B	0.42555	0.391	D	0.91114	0.4924	10	0.52906	T	0.07	-14.642	15.2652	0.73654	0.0:0.0:1.0:0.0	.	28	P22415	USF1_HUMAN	L	28	ENSP00000356999:P28L;ENSP00000357000:P28L;ENSP00000356998:P28L;ENSP00000435005:P28L	ENSP00000356998:P28L	P	-	2	0	USF1	159279060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.478000	0.60230	2.450000	0.82876	0.655000	0.94253	CCA	.	.	none		0.522	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		A	161012436	G	A	161012436	3	1	21	1	0	0	0	0	1	0	0	0	17029	1348	47	2	881	2	USF1	1	161012436	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2622612	161012436	88238185	20	4894										
PIGC	5279	hgsc.bcm.edu	37	chr1	172411314	172411314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcatgaagactgacatggcaTagatggtgtcagtgctgaca	13	7	1	5			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:172411314T>C	ENST00000367728.1	-	1	1912	c.449A>G	c.(448-450)tAt>tGt	p.Y150C	PIGC_ENST00000258324.1_Missense_Mutation_p.Y150C|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Y150C			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	150					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGACATGGCATAGATGGTGTC	0.468																																					p.Y150C		Atlas-SNP	.											.	PIGC	24	.	0			c.A449G						PASS	.						71	61	64					1																	172411314		2203	4300	6503	SO:0001583	missense	5279	exon2			ATGGCATAGATGG	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.449A>G	1.37:g.172411314T>C	ENSP00000356702:p.Tyr150Cys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	114	61	0.535088	NM_153747	O14491	Missense_Mutation	SNP	ENST00000367728.1	37	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741330	0.69304	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67448	-0.5668	10	0.72032	D	0.01	-6.9131	13.6827	0.62496	0.0:0.0:0.0:1.0	.	150	Q92535	PIGC_HUMAN	C	150	ENSP00000356701:Y150C;ENSP00000356702:Y150C;ENSP00000258324:Y150C	ENSP00000258324:Y150C	Y	-	2	0	PIGC	170677937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.528000	0.81941	1.917000	0.55516	0.528000	0.53228	TAT	.	.	none		0.468	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		C	172411314	T	C	172411314	3	2	21	1	0	0	0	0	1	0	0	0	11886	1406	49	2	448	2	PIGC	1	172411314	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	11398878	172411314	76839307	21	4895										
DARS2	55157	hgsc.bcm.edu	37	chr1	173802522	173802522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	caatttctttagaaaacagaGgctcttcggttgcagtatcg	9	8	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:173802522G>A	ENST00000361951.4	+	6	1228	c.501G>A	c.(499-501)gaG>gaA	p.E167E	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	167					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	AGAAAACAGAGGCTCTTCGGT	0.323																																					p.E167E		Atlas-SNP	.											DARS2,colon,carcinoma,+2,1	DARS2	61	1	0			c.G501A						scavenged	.																																			SO:0001819	synonymous_variant	55157	exon6			AACAGAGGCTCTT	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.501G>A	1.37:g.173802522G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	53	2	0.0377358	NM_018122		Silent	SNP	ENST00000361951.4	37	CCDS1311.1																																																																																			.	.	none		0.323	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		A	173802522	G	A	173802522	2	1	21	1	0	0	0	0	0	0	0	1	4242	991	35	2		2	DARS2	1	173802522	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1391208	173802522	75448099	22	4896										
TSEN15	116461	hgsc.bcm.edu	37	chr1	184020964	184020964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggcggtgttcgcggctttggCgacggcggtggagctccttc	18	11	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:184020964C>A	ENST00000361641.1	+	1	154	c.75C>A	c.(73-75)ggC>ggA	p.G25G	TSEN15_ENST00000533373.1_Silent_p.G25G|TSEN15_ENST00000423085.2_Silent_p.G25G	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	25					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						GCGGCTTTGGCGACGGCGGTG	0.746																																					p.G25G		Atlas-SNP	.											.	TSEN15	19	.	0			c.C75A						PASS	.						6	9	8					1																	184020964		2080	4114	6194	SO:0001819	synonymous_variant	116461	exon1			CTTTGGCGACGGC	AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"tRNA splicing endonuclease subunits"	16791	protein-coding gene	gene with protein product		608756	"chromosome 1 open reading frame 19", "tRNA splicing endonuclease 15 homolog (S. cerevisiae)"	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.75C>A	1.37:g.184020964C>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	13	0.317073	NM_001127394	B4DKP0|Q9BZQ5	Silent	SNP	ENST00000361641.1	37	CCDS1361.1																																																																																			.	.	none		0.746	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1			A	184020964	C	A	184020964	2	1	21	1	0	0	0	0	0	0	0	1	16608	755	27	4		4	TSEN15	1	184020964	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	10218442	184020964	65229657	23	4897										
PRG4	10216	hgsc.bcm.edu	37	chr1	186277976	186277979	+	Frame_Shift_Del	DEL	GAGT	GAGT	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aaagccaaaaacaatgcctaGagtgagaaaaccaaagacga							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	GAGT	GAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:186277976_186277979delGAGT	ENST00000445192.2	+	7	3170_3173	c.3125_3128delGAGT	c.(3124-3129)agagtgfs	p.RV1042fs	PRG4_ENST00000367486.3_Frame_Shift_Del_p.RV999fs|PRG4_ENST00000367485.4_Frame_Shift_Del_p.RV949fs|PRG4_ENST00000367483.4_Frame_Shift_Del_p.RV1001fs|PRG4_ENST00000367484.3_Frame_Shift_Del_p.RV571fs|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1042					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACAATGCCTAGAGTGAGAAAACCA	0.446																																					p.1042_1043del		Pindel,Atlas-Indel	.											PRG4,NS,adenoma,-1,1	PRG4	259	1	0			c.3124_3127del	GRCh37	CD061459	PRG4	D		PASS	.																																			SO:0001589	frameshift_variant	10216	exon7			.	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3125_3128delGAGT	1.37:g.186277976_186277979delGAGT	ENSP00000399679:p.Arg1042fs	Somatic	118	.	.		WXS	Illumina HiSeq	Phase_I	105	18	0.171	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Frame_Shift_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																			.	.	none		0.446	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		-	186277979	GAGT	-	186277976	7	5	21	1	0	1	0	1	0	0	0	0	12481	942	33	0	3147	0	PRG4	1	186277976	Frame_Shift_Del	DEL	GAGT	TCGA-FM-8000-01A-11D-2210-10	2257012	186277976	62972645	24	4898										
ZBTB41	360023	hgsc.bcm.edu	37	chr1	197128828	197128828	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcagatacattctgtaacatCgtcttggcttccgactgata	8	10	2	2	rs376633171		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:197128828C>T	ENST00000367405.4	-	10	2459	c.2391G>A	c.(2389-2391)acG>acA	p.T797T	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	797					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTGTAACATCGTCTTGGCTT	0.428																																					p.T797T		Atlas-SNP	.											ZBTB41,NS,carcinoma,0,1	ZBTB41	116	1	0			c.G2391A						scavenged	.						197	179	185					1																	197128828		2203	4300	6503	SO:0001819	synonymous_variant	360023	exon10			TAACATCGTCTTG		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2391G>A	1.37:g.197128828C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	245	3	0.0122449	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	CCDS30960.1																																																																																			.	.	none		0.428	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		T	197128828	C	T	197128828	2	4	21	1	0	0	0	0	0	0	0	1	17540	871	31	1		1	ZBTB41	1	197128828	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	10850852	197128828	52121793	25	4899										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227223299	227223299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cacaagttatatggcatgagAatccacacacttttagaggg	9	8	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:227223299A>G	ENST00000366769.3	-	24	4395	c.3104T>C	c.(3103-3105)tTc>tCc	p.F1035S	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.F1070S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.F954S|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.F1007S|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.F1035S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.F1015S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.F1048S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATGGCATGAGAATCCACACAC	0.368																																					p.F1035S		Atlas-SNP	.											CDC42BPA_ENST00000366769,NS,carcinoma,+1,3	CDC42BPA	528	3	0			c.T3104C						scavenged	.						75	76	76					1																	227223299		2203	4300	6503	SO:0001583	missense	8476	exon24			CATGAGAATCCAC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3104T>C	1.37:g.227223299A>G	ENSP00000355731:p.Phe1035Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	152	3	0.0197368	NM_003607		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722952	0.89298	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.997;0.999;0.998;0.998;1.0;0.996;0.999	D	0.93955	0.7235	10	0.59425	D	0.04	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	1015;1007;350;954;1035;1070;237	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	S	1035;954;1035;1070;1007;350;1015;1048	ENSP00000355731:F1035S;ENSP00000355729:F954S;ENSP00000335341:F1035S;ENSP00000355728:F1070S;ENSP00000355726:F1007S;ENSP00000443275:F1015S;ENSP00000355727:F1048S	ENSP00000335341:F1035S	F	-	2	0	CDC42BPA	225289922	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.207000	0.95064	2.212000	0.71576	0.528000	0.53228	TTC	.	.	none		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227223299	A	G	227223299	3	3	21	1	0	0	0	0	1	0	0	0	3072	246	9	2	2107	2	CDC42BPA	1	227223299	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	30094471	227223299	22027322	26	4900										
OR2L8	391190	hgsc.bcm.edu	37	chr1	248112914	248112914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgtagtaactttctactatgCaccttttgtctacacttatc	4	10	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr1:248112914C>A	ENST00000357191.3	+	1	755	c.755C>A	c.(754-756)gCa>gAa	p.A252E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TTCTACTATGCACCTTTTGTC	0.478																																					p.A252E		Atlas-SNP	.											OR2L8,right_upper_lobe,carcinoma,0,1	OR2L8	92	1	0			c.C755A						PASS	.						143	103	116					1																	248112914		2203	4298	6501	SO:0001583	missense	391190	exon1			ACTATGCACCTTT	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.755C>A	1.37:g.248112914C>A	ENSP00000349719:p.Ala252Glu	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	208	45	0.216346	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437845	0.12104	.	.	ENSG00000196936	ENST00000357191	T	0.38887	1.11	1.8	-0.381	0.12485	GPCR, rhodopsin-like superfamily (1);	0.590255	0.12675	U	0.448469	T	0.44265	0.1285	L	0.60067	1.865	0.09310	N	1	P	0.45126	0.851	P	0.51550	0.673	T	0.36359	-0.9751	10	0.87932	D	0	.	3.7754	0.08657	0.0:0.3475:0.3505:0.302	.	252	Q8NGY9	OR2L8_HUMAN	E	252	ENSP00000349719:A252E	ENSP00000349719:A252E	A	+	2	0	OR2L8	246179537	0.000000	0.05858	0.211000	0.23655	0.010000	0.07245	-0.477000	0.06583	-0.281000	0.09141	-0.443000	0.05667	GCA	.	.	none		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248112914	C	A	248112914	3	1	21	1	0	0	0	0	1	0	0	0	11009	710	25	4	757	4	OR2L8	1	248112914	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	20889615	248112914	1137707	27	4901										
SNTG2	54221	hgsc.bcm.edu	37	chr2	1094061	1094061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aggttctgagcacaacgtccCtgtcgtcatatcaaaaatat	7	10	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:1094061C>T	ENST00000308624.5	+	4	419	c.290C>T	c.(289-291)cCt>cTt	p.P97L	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	97	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACAACGTCCCTGTCGTCATA	0.388																																					p.P97L		Atlas-SNP	.											SNTG2,NS,carcinoma,0,1	SNTG2	125	1	0			c.C290T						scavenged	.						123	117	119					2																	1094061		1887	4106	5993	SO:0001583	missense	54221	exon4			ACGTCCCTGTCGT	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.290C>T	2.37:g.1094061C>T	ENSP00000311837:p.Pro97Leu	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	119	3	0.0252101	NM_018968	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479305	0.63849	.	.	ENSG00000172554	ENST00000308624	T	0.28255	1.62	4.42	4.42	0.53409	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65129	-0.6243	10	0.87932	D	0	.	14.8075	0.69968	0.0:1.0:0.0:0.0	.	97	Q9NY99	SNTG2_HUMAN	L	97	ENSP00000311837:P97L	ENSP00000311837:P97L	P	+	2	0	SNTG2	1084061	1.000000	0.71417	0.648000	0.29521	0.426000	0.31534	5.896000	0.69822	1.967000	0.57214	0.563000	0.77884	CCT	.	.	none		0.388	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		T	1094061	C	T	1094061	3	4	21	1	0	0	0	0	1	0	0	0	14875	681	24	2	304	2	SNTG2	2	1094061	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		1094061	242105312	28	4902										
XPO1	7514	hgsc.bcm.edu	37	chr2	61726851	61726851	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acataattattacttgcctgTcttttaaatgcttagatttg	5	6	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:61726851T>A	ENST00000401558.2	-	7	1314	c.587A>T	c.(586-588)gAc>gTc	p.D196V	XPO1_ENST00000406957.1_Missense_Mutation_p.D196V|XPO1_ENST00000404992.2_Missense_Mutation_p.D196V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	196	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TACTTGCCTGTCTTTTAAATG	0.289			Mis		CLL																																p.D196V		Atlas-SNP	.	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	.	XPO1	108	.	0			c.A587T						PASS	.						50	52	51					2																	61726851		2202	4299	6501	SO:0001583	missense	7514	exon7			TGCCTGTCTTTTA	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.587A>T	2.37:g.61726851T>A	ENSP00000384863:p.Asp196Val	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	201	144	0.716418	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562341	0.86335	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.52057	0.68;0.68;0.68	5.95	5.95	0.96441	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.83118	2.625	0.80722	D	1	D	0.61080	0.989	D	0.65323	0.934	T	0.71310	-0.4631	10	0.40728	T	0.16	.	16.4025	0.83647	0.0:0.0:0.0:1.0	.	196	O14980	XPO1_HUMAN	V	196	ENSP00000384863:D196V;ENSP00000385942:D196V;ENSP00000385559:D196V	ENSP00000384863:D196V	D	-	2	0	XPO1	61580355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.027000	0.88791	2.268000	0.75426	0.533000	0.62120	GAC	.	.	none		0.289	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		A	61726851	T	A	61726851	3	1	21	1	0	0	0	0	1	0	0	0	17442	1667	58	5	2704	5	XPO1	2	61726851	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	60632790	61726851	181472522	29	4903										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109367729	109367729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttttatttcaggtgctattcGagcacataatggtagtcttc	8	7	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:109367729G>A	ENST00000283195.6	+	10	1409	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R428Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTGCTATTCGAGCACATAAT	0.353																																					p.R428Q		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,6	RANBP2	488	6	6	Substitution - Missense(6)	kidney(4)|endometrium(2)	c.G1283A						scavenged	.						79	97	91					2																	109367729		1502	2704	4206	SO:0001583	missense	5903	exon10			CTATTCGAGCACA	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1283G>A	2.37:g.109367729G>A	ENSP00000283195:p.Arg428Gln	Somatic	482	2	0.00414938		WXS	Illumina HiSeq	Phase_I	381	5	0.0131234	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626699	0.46840	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27720	1.65	5.08	5.08	0.68730	.	.	.	.	.	T	0.49881	0.1583	L	0.60455	1.87	0.29286	N	0.869701	D	0.89917	1.0	P	0.59546	0.859	T	0.44034	-0.9354	9	0.39692	T	0.17	-6.2923	18.8314	0.92141	0.0:0.0:1.0:0.0	.	428	P49792	RBP2_HUMAN	Q	428	ENSP00000283195:R428Q	ENSP00000283195:R428Q	R	+	2	0	RANBP2	108734161	1.000000	0.71417	0.988000	0.46212	0.573000	0.36030	6.632000	0.74281	2.521000	0.84997	0.650000	0.86243	CGA	G|0.500;A|0.500	0.500	weak		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109367729	G	A	109367729	3	1	21	1	0	0	0	0	1	0	0	0	13028	1058	37	1	1321	1	RANBP2	2	109367729	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	47640878	109367729	133831644	30	4904										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128350377	128350377	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtccgcccacagctgttcgaCcgggagctgtgcctgcggca	14	15	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:128350377C>G	ENST00000409816.2	+	16	2033	c.2001C>G	c.(1999-2001)gaC>gaG	p.D667E	MYO7B_ENST00000389524.4_Missense_Mutation_p.D667E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D667E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	667	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTGTTCGACCGGGAGCTGT	0.682																																					p.D667E		Atlas-SNP	.											.	MYO7B	359	.	0			c.C2001G						PASS	.						16	23	21					2																	128350377		2021	4165	6186	SO:0001583	missense	4648	exon17			GTTCGACCGGGAG		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2001C>G	2.37:g.128350377C>G	ENSP00000386461:p.Asp667Glu	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	63	22	0.349206	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163986	0.78339	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.89196	-2.48;-2.48;-2.48	4.93	2.71	0.32032	Myosin head, motor domain (2);	0.058193	0.64402	D	0.000003	D	0.88265	0.6390	L	0.48877	1.53	0.47441	D	0.999428	D	0.55800	0.973	P	0.59889	0.865	D	0.83912	0.0296	10	0.22109	T	0.4	.	6.5587	0.22474	0.0:0.5804:0.0:0.4196	.	667	Q6PIF6	MYO7B_HUMAN	E	667	ENSP00000374175:D667E;ENSP00000415090:D667E;ENSP00000386461:D667E	ENSP00000374175:D667E	D	+	3	2	MYO7B	128066847	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.575000	0.36493	1.215000	0.43411	-0.136000	0.14681	GAC	.	.	none		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		G	128350377	C	G	128350377	3	3	21	1	0	0	0	0	1	0	0	0	10083	506	18	4	2063	4	MYO7B	2	128350377	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	18982648	128350377	114848996	31	4905										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	575	5	0.00869565		WXS	Illumina HiSeq	Phase_I	299	5	0.0167224	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	21	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	3671307	132021684	111177689	32	4906										
NCKAP5	344148	hgsc.bcm.edu	37	chr2	133542832	133542832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gccttccagaaagtgttttcTgtttgtctcccagccaaaca	7	12	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:133542832T>C	ENST00000409261.1	-	14	1925	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R518G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	518										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGTGTTTTCTGTTTGTCTCC	0.493																																					p.R518G		Atlas-SNP	.											.	NCKAP5	322	.	0			c.A1552G						PASS	.						124	124	124					2																	133542832		1962	4173	6135	SO:0001583	missense	344148	exon14			GTTTTCTGTTTGT	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1552A>G	2.37:g.133542832T>C	ENSP00000387128:p.Arg518Gly	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	129	46	0.356589	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	0.068	-1.208267	0.01568	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	5.38	0.0287	0.14159	.	0.509237	0.13975	N	0.349882	T	0.05181	0.0138	N	0.12746	0.255	0.25358	N	0.988806	B	0.02656	0.0	B	0.06405	0.002	T	0.45425	-0.9262	10	0.12766	T	0.61	.	9.6561	0.39928	0.0:0.3315:0.0:0.6685	.	518	O14513	NCKP5_HUMAN	G	518	ENSP00000387128:R518G;ENSP00000380603:R518G	ENSP00000380603:R518G	R	-	1	2	NCKAP5	133259302	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.118000	0.10692	-0.187000	0.10516	-0.424000	0.05967	AGA	.	.	none		0.493	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133542832	T	C	133542832	3	2	21	1	0	0	0	0	1	0	0	0	10223	1588	55	3	4205	3	NCKAP5	2	133542832	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	1521148	133542832	109656541	33	4907										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167313460	167313461	+	Frame_Shift_Del	DEL	CT	CT	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cttcttagatatttcaccaaCtctctgcttttcttcttcat							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:167313460_167313461delCT	ENST00000409855.1	-	10	1335_1336	c.1209_1210delAG	c.(1207-1212)agagttfs	p.RV403fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	403					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTTCACCAACTCTCTGCTTTT	0.332																																					p.404_404del		Pindel,Atlas-Indel	.											.	SCN7A	410	.	0			c.1210_1211del						PASS	.																																			SO:0001589	frameshift_variant	6332	exon10			.	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1209_1210delAG	2.37:g.167313464_167313465delCT	ENSP00000386796:p.Arg403fs	Somatic	159	.	.		WXS	Illumina HiSeq	Phase_I	151	39	0.258	NM_002976		Frame_Shift_Del	DEL	ENST00000409855.1	37	CCDS46442.1																																																																																			.	.	none		0.332	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			-	167313461	CT	-	167313460	7	5	21	1	0	1	0	1	0	0	0	0	13923	565	20	0	3902	0	SCN7A	2	167313460	Frame_Shift_Del	DEL	CT	TCGA-FM-8000-01A-11D-2210-10	33770628	167313460	75885913	34	4908										
LRP2	4036	hgsc.bcm.edu	37	chr2	170127524	170127524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	caaagaaagaaggattccccGaaactggaaccatgacatct	8	10	1	3	rs201860953		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:170127524G>A	ENST00000263816.3	-	16	2495	c.2210C>T	c.(2209-2211)tCg>tTg	p.S737L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	737					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)	p.S737L(2)		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)"	AGGATTCCCCGAAACTGGAAC	0.413																																					p.S737L		Atlas-SNP	.											LRP2,rectum,carcinoma,0,2	LRP2	751	2	2	Substitution - Missense(2)	large_intestine(2)	c.C2210T						PASS	.	G	LEU/SER	0,4406		0,0,2203	122	106	111		2210	4.9	0.2	2		111	6,8594	5.0+/-18.6	0,6,4294	yes	missense	LRP2	NM_004525.2	145	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	737/4656	170127524	6,13000	2203	4300	6503	SO:0001583	missense	4036	exon16			TTCCCCGAAACTG		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.2210C>T	2.37:g.170127524G>A	ENSP00000263816:p.Ser737Leu	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	97	36	0.371134	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397079	0.42512	0.0	6.98E-4	ENSG00000081479	ENST00000263816	D	0.90788	-2.73	5.77	4.9	0.64082	Six-bladed beta-propeller, TolB-like (1);	0.101407	0.64402	D	0.000003	T	0.80363	0.4609	N	0.20685	0.6	0.80722	D	1	B	0.33120	0.398	B	0.22152	0.038	T	0.78288	-0.2262	10	0.07813	T	0.8	.	15.2561	0.73585	0.0675:0.0:0.9325:0.0	.	737	P98164	LRP2_HUMAN	L	737	ENSP00000263816:S737L	ENSP00000263816:S737L	S	-	2	0	LRP2	169835770	1.000000	0.71417	0.229000	0.23960	0.126000	0.20510	7.917000	0.87498	1.581000	0.49865	0.655000	0.94253	TCG	G|0.999;A|0.001	0.001	weak		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170127524	G	A	170127524	3	1	21	1	0	0	0	0	1	0	0	0	8956	1059	37	1	12013	1	LRP2	2	170127524	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2814064	170127524	73071849	35	4909										
HOXD4	3233	hgsc.bcm.edu	37	chr2	177016724	177016724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cagtccgaccccaagcagccGccctccgggacggcactcaa	10	19	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:177016724G>A	ENST00000306324.3	+	1	775	c.363G>A	c.(361-363)ccG>ccA	p.P121P	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	121					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCAAGCAGCCGCCCTCCGGGA	0.682																																					p.P121P		Atlas-SNP	.											.	HOXD4	32	.	0			c.G363A						PASS	.						28	35	33					2																	177016724		2125	4262	6387	SO:0001819	synonymous_variant	3233	exon1			GCAGCCGCCCTCC		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.363G>A	2.37:g.177016724G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_014621	B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	CCDS2269.1																																																																																			.	.	none		0.682	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			A	177016724	G	A	177016724	2	1	21	1	0	0	0	0	0	0	0	1	7324	1074	38	1		1	HOXD4	2	177016724	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	6889200	177016724	66182649	36	4910										
HECW2	57520	hgsc.bcm.edu	37	chr2	197105187	197105187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	actcacccttcctccccaacGaaggtgacatatagcttatt	5	14	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:197105187G>T	ENST00000260983.3	-	21	3932	c.3750C>A	c.(3748-3750)ttC>ttA	p.F1250L	HECW2_ENST00000409111.1_Missense_Mutation_p.F894L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1250	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCCCCAACGAAGGTGACAT	0.468																																					p.F1250L		Atlas-SNP	.											HECW2,NS,carcinoma,0,2	HECW2	239	2	0			c.C3750A						scavenged	.						114	113	114					2																	197105187		2203	4300	6503	SO:0001583	missense	57520	exon21			CCCAACGAAGGTG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3750C>A	2.37:g.197105187G>T	ENSP00000260983:p.Phe1250Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	81	2	0.0246914	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647019	0.67358	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57752	0.38;0.38	4.79	-6.58	0.01836	HECT (3);	0.050684	0.85682	D	0.000000	T	0.74718	0.3753	M	0.92880	3.355	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	T	0.81669	-0.0828	10	0.87932	D	0	.	18.7885	0.91964	0.9011:0.0:0.0989:0.0	.	1250	Q9P2P5	HECW2_HUMAN	L	894;1250	ENSP00000386775:F894L;ENSP00000260983:F1250L	ENSP00000260983:F1250L	F	-	3	2	HECW2	196813432	0.996000	0.38824	0.165000	0.22776	0.685000	0.39939	0.567000	0.23608	-1.513000	0.01789	-0.137000	0.14449	TTC	.	.	none		0.468	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197105187	G	T	197105187	3	4	21	1	0	0	0	0	1	0	0	0	7043	1049	37	4	1004	4	HECW2	2	197105187	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	20088463	197105187	46094186	37	4911										
SATB2	23314	hgsc.bcm.edu	37	chr2	200193545	200193545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccacttctggcagattgaggAaattctgcatggccctcagg	11	11	3	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:200193545A>G	ENST00000417098.1	-	8	2078	c.1262T>C	c.(1261-1263)tTc>tCc	p.F421S	SATB2_ENST00000428695.1_Missense_Mutation_p.F303S|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000443023.1_Missense_Mutation_p.F362S|SATB2_ENST00000260926.5_Missense_Mutation_p.F421S|SATB2_ENST00000457245.1_Missense_Mutation_p.F421S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	421					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATTGAGGAAATTCTGCAT	0.517																																					p.F421S	Colon(30;262 767 11040 24421 36230)	Atlas-SNP	.											SATB2,NS,carcinoma,+1,1	SATB2	134	1	0			c.T1262C						PASS	.						111	99	103					2																	200193545		2203	4300	6503	SO:0001583	missense	23314	exon9			TTGAGGAAATTCT	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1262T>C	2.37:g.200193545A>G	ENSP00000401112:p.Phe421Ser	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_015265	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643706	0.87859	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.61158	0.18;0.19;0.18;0.13;0.18	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.79112	-0.1937	10	0.87932	D	0	-16.206	15.1355	0.72562	1.0:0.0:0.0:0.0	.	303;421	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	S	421;362;421;303;421	ENSP00000401112:F421S;ENSP00000388764:F362S;ENSP00000260926:F421S;ENSP00000388581:F303S;ENSP00000405420:F421S	ENSP00000260926:F421S	F	-	2	0	SATB2	199901790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.218000	0.71995	0.528000	0.53228	TTC	.	.	none		0.517	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		G	200193545	A	G	200193545	3	3	21	1	0	0	0	0	1	0	0	0	13854	246	9	2	955	2	SATB2	2	200193545	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3088358	200193545	43005828	38	4912										
ADAM23	8745	hgsc.bcm.edu	37	chr2	207437855	207437855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcagtttcagccacgagggtAtgaatgccgggatgctgtga	15	8	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:207437855A>G	ENST00000264377.3	+	18	2001	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	ADAM23_ENST00000374416.1_Missense_Mutation_p.Y558C|ADAM23_ENST00000374415.3_Missense_Mutation_p.Y558C	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	558	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCACGAGGGTATGAATGCCGG	0.373																																					p.Y558C	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											.	ADAM23	239	.	0			c.A1673G						PASS	.						232	210	218					2																	207437855		2203	4300	6503	SO:0001583	missense	8745	exon18			GAGGGTATGAATG	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1673A>G	2.37:g.207437855A>G	ENSP00000264377:p.Tyr558Cys	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_003812	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247881	0.59103	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.11385	2.78;2.78;2.78	5.99	5.99	0.97316	Blood coagulation inhibitor, Disintegrin (5);	0.107594	0.41712	D	0.000829	T	0.29158	0.0725	M	0.76838	2.35	0.58432	D	0.999999	D	0.57571	0.98	P	0.59115	0.852	T	0.01858	-1.1259	10	0.62326	D	0.03	.	11.9424	0.52909	0.855:0.145:0.0:0.0	.	558	O75077	ADA23_HUMAN	C	558;558;452;558	ENSP00000264377:Y558C;ENSP00000363537:Y558C;ENSP00000363536:Y558C	ENSP00000264377:Y558C	Y	+	2	0	ADAM23	207146100	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.789000	0.62446	2.304000	0.77564	0.529000	0.55759	TAT	.	.	none		0.373	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		G	207437855	A	G	207437855	3	3	21	1	0	0	0	0	1	0	0	0	245	449	16	2	1743	2	ADAM23	2	207437855	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	7244310	207437855	35761518	39	4913										
PRKAG3	53632	hgsc.bcm.edu	37	chr2	219694845	219694845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agcttgggaaatggggcctgCggggacaggcacagggcagg	20	8	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:219694845C>T	ENST00000529249.1	-	4	804	c.489G>A	c.(487-489)ccG>ccA	p.P163P	PRKAG3_ENST00000392098.3_Silent_p.P163P|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Silent_p.P138P			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	163					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ATGGGGCCTGCGGGGACAGGC	0.627																																					p.P163P		Atlas-SNP	.											PRKAG3,NS,carcinoma,-1,1	PRKAG3	47	1	0			c.G489A						scavenged	.						67	70	69					2																	219694845		2203	4300	6503	SO:0001819	synonymous_variant	53632	exon4			GGCCTGCGGGGAC	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.489G>A	2.37:g.219694845C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	95	3	0.0315789	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	CCDS2424.1																																																																																			.	.	none		0.627	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			T	219694845	C	T	219694845	2	4	21	1	0	0	0	0	0	0	0	1	12502	755	27	1		1	PRKAG3	2	219694845	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	12256990	219694845	23504528	40	4914										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238277339	238277339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	actgtgaagaccagtctgggGtcattggtgatggtctgcag	15	7	3	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr2:238277339G>A	ENST00000295550.4	-	10	5219	c.4767C>T	c.(4765-4767)gaC>gaT	p.D1589D	COL6A3_ENST00000409809.1_Silent_p.D1383D|COL6A3_ENST00000353578.4_Silent_p.D1383D|COL6A3_ENST00000472056.1_Silent_p.D982D|COL6A3_ENST00000347401.3_Silent_p.D1388D|COL6A3_ENST00000346358.4_Silent_p.D1389D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1589	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGTCTGGGGTCATTGGTGA	0.542																																					p.D1589D		Atlas-SNP	.											.	COL6A3	608	.	0			c.C4767T						PASS	.						198	175	182					2																	238277339		2203	4300	6503	SO:0001819	synonymous_variant	1293	exon10			TCTGGGGTCATTG	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4767C>T	2.37:g.238277339G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	110	42	0.381818	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			.	.	none		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238277339	G	A	238277339	2	1	21	1	0	0	0	0	0	0	0	1	3701	1252	44	2		2	COL6A3	2	238277339	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	18582494	238277339	4922034	41	4915										
SLC6A11	6538	hgsc.bcm.edu	37	chr3	10976837	10976837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcctccatgctctgcatcccGctctggatctgcatcacagt	7	16	4	0	rs138273152		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:10976837G>A	ENST00000254488.2	+	13	1764	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGCATCCCGCTCTGGATCT	0.607																																					p.P566P		Atlas-SNP	.											SLC6A11,NS,carcinoma,+1,2	SLC6A11	87	2	0			c.G1698A						PASS	.	G		4,4402	8.1+/-20.4	0,4,2199	162	145	150		1698	-8.4	0.4	3	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		566/633	10976837	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6538	exon13			CATCCCGCTCTGG	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1698G>A	3.37:g.10976837G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	133	28	0.210526	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																			G|1.000;A|0.000	0.000	weak		0.607	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		A	10976837	G	A	10976837	2	1	21	1	0	0	0	0	0	0	0	1	14674	1074	38	1		1	SLC6A11	3	10976837	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10		10976837	187045593	42	4916										
ZNF167	55888	hgsc.bcm.edu	37	chr3	44598759	44598759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggccgcaggaagcattgagcCggcttcgggagctctgccgc	16	13	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:44598759C>T	ENST00000273320.3	+	2	649	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.R74W|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R74W|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.R74W	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										AGCATTGAGCCGGCTTCGGGA	0.577																																					p.R74W		Atlas-SNP	.											ZNF167,NS,adenocarcinoma,0,1	.	.	1	0			c.C220T						scavenged	.						50	52	51					3																	44598759		2203	4300	6503	SO:0001583	missense	55888	exon2			TTGAGCCGGCTTC	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.220C>T	3.37:g.44598759C>T	ENSP00000273320:p.Arg74Trp	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	101	2	0.019802	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.062207	0.76187	.	.	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320	T;T;T;T	0.05786	3.39;3.39;3.39;3.39	4.9	4.0	0.46444	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.306608	0.18090	N	0.152027	T	0.30103	0.0754	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.95;0.992	T	0.09751	-1.0660	10	0.87932	D	0	-12.2551	10.6963	0.45901	0.191:0.809:0.0:0.0	.	74;74	Q9P0L1;Q9P0L1-2	ZN167_HUMAN;.	W	74	ENSP00000416681:R74W;ENSP00000395524:R74W;ENSP00000345404:R74W;ENSP00000273320:R74W	ENSP00000273320:R74W	R	+	1	2	ZNF167	44573763	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	1.313000	0.33585	1.156000	0.42514	0.655000	0.94253	CGG	.	.	none		0.577	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		T	44598759	C	T	44598759	3	4	21	1	0	0	0	0	1	0	0	0	17738	643	23	1	222	1	ZNF167	3	44598759	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	33621922	44598759	153423671	43	4917										
GNAI2	2771	hgsc.bcm.edu	37	chr3	50294169	50294169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgcaggatgtttgatgtggGtggtcagcggtctgagcgga	18	6	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:50294169G>A	ENST00000313601.6	+	6	992	c.608G>A	c.(607-609)gGt>gAt	p.G203D	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.G151D|GNAI2_ENST00000451956.1_Missense_Mutation_p.G166D|GNAI2_ENST00000536647.1_Missense_Mutation_p.G122D|GNAI2_ENST00000422163.1_Missense_Mutation_p.G187D|GNAI2_ENST00000266027.5_Missense_Mutation_p.G187D	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	203					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TTTGATGTGGGTGGTCAGCGG	0.542																																					p.G203D		Atlas-SNP	.											.	GNAI2	42	.	0			c.G608A						PASS	.						166	156	159					3																	50294169		2203	4300	6503	SO:0001583	missense	2771	exon6			ATGTGGGTGGTCA	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.608G>A	3.37:g.50294169G>A	ENSP00000312999:p.Gly203Asp	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	191	76	0.397906	NM_002070	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738764	0.89573	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.98936	4.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98640	1.0675	10	0.87932	D	0	.	11.6416	0.51235	0.0865:0.0:0.9135:0.0	.	166;203;187;187	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	D	187;203;122;203;151;166;187	ENSP00000406871:G187D;ENSP00000312999:G203D;ENSP00000444360:G122D;ENSP00000395736:G151D;ENSP00000406369:G166D;ENSP00000266027:G187D	ENSP00000266027:G187D	G	+	2	0	GNAI2	50269173	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.596000	0.98267	1.479000	0.48272	0.655000	0.94253	GGT	.	.	none		0.542	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		A	50294169	G	A	50294169	3	1	21	1	0	0	0	0	1	0	0	0	6505	1261	44	2	641	2	GNAI2	3	50294169	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	5695410	50294169	147728261	44	4918										
IQCF2	389123	hgsc.bcm.edu	37	chr3	51897174	51897174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aacggcaggcagctctgatcGcctacgcaaccagagagagg	13	12	1	3	rs369181892		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:51897174G>A	ENST00000333127.3	+	3	312	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	95								p.A95T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTCTGATCGCCTACGCAAC	0.582																																					p.A95T		Atlas-SNP	.											IQCF2,mouth,carcinoma,0,1	IQCF2	21	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G283A						scavenged	.	G	THR/ALA	0,4406		0,0,2203	115	111	113		283	-4.6	0	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	IQCF2	NM_203424.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	95/165	51897174	1,13005	2203	4300	6503	SO:0001583	missense	389123	exon3			CTGATCGCCTACG	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.283G>A	3.37:g.51897174G>A	ENSP00000329904:p.Ala95Thr	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	60	3	0.05	NM_203424		Missense_Mutation	SNP	ENST00000333127.3	37	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488097	0.26686	0.0	1.16E-4	ENSG00000184345	ENST00000333127	T	0.29917	1.55	4.95	-4.59	0.03400	.	2.430730	0.01286	N	0.009898	T	0.07098	0.0180	N	0.00517	-1.405	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.13899	-1.0492	10	0.18710	T	0.47	0.3689	0.6435	0.00814	0.3204:0.1226:0.3097:0.2474	.	95	Q8IXL9	IQCF2_HUMAN	T	95	ENSP00000329904:A95T	ENSP00000329904:A95T	A	+	1	0	IQCF2	51872214	0.000000	0.05858	0.000000	0.03702	0.303000	0.27691	-0.149000	0.10204	-0.609000	0.05724	-0.367000	0.07326	GCC	.	.	weak		0.582	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		A	51897174	G	A	51897174	3	1	21	1	0	0	0	0	1	0	0	0	7808	1087	38	1	293	1	IQCF2	3	51897174	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1603005	51897174	146125256	45	4919										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52409342	52409342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acaccgtcaccccgcggctgAtgcgtcacttcaactacctg	8	17	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:52409342A>G	ENST00000420323.2	+	45	7333	c.7072A>G	c.(7072-7074)Atg>Gtg	p.M2358V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2358	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCGCGGCTGATGCGTCACTT	0.572																																					p.M2358V		Atlas-SNP	.											.	DNAH1	534	.	0			c.A7072G						PASS	.						52	53	53					3																	52409342		2088	4207	6295	SO:0001583	missense	25981	exon45			CGGCTGATGCGTC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7072A>G	3.37:g.52409342A>G	ENSP00000401514:p.Met2358Val	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	36	17	0.472222	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	6.771	0.511200	0.12883	.	.	ENSG00000114841	ENST00000420323	T	0.34667	1.35	5.71	5.71	0.89125	.	0.396398	0.21139	N	0.079506	T	0.24661	0.0598	N	0.16602	0.42	0.23869	N	0.996616	B	0.06786	0.001	B	0.09377	0.004	T	0.10359	-1.0633	10	0.17832	T	0.49	.	15.9779	0.80083	1.0:0.0:0.0:0.0	.	2358	C9JXH6	.	V	2358	ENSP00000401514:M2358V	ENSP00000401514:M2358V	M	+	1	0	DNAH1	52384382	0.995000	0.38212	0.987000	0.45799	0.158000	0.22134	3.572000	0.53849	2.183000	0.69458	0.454000	0.30748	ATG	.	.	none		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52409342	A	G	52409342	3	3	21	1	0	0	0	0	1	0	0	0	4597	333	12	2	7246	2	DNAH1	3	52409342	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	512168	52409342	145613088	46	4920										
SPCS1	28972	hgsc.bcm.edu	37	chr3	52741760	52741760	+	Frame_Shift_Del	DEL	C	C	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctctcaagtggttacctgttCaagaatcaagcacagacgac							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:52741760delC	ENST00000602728.1	+	4	410	c.241delC	c.(241-243)caafs	p.Q81fs	GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Frame_Shift_Del_p.Q148fs|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000423431.1_Frame_Shift_Del_p.Q59fs|GLT8D1_ENST00000266014.5_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413																																					p.V147fs		Pindel,Atlas-Indel	.											.	SPCS1	20	.	0			c.441delT						PASS	.						123	126	125					3																	52741760		2203	4300	6503	SO:0001589	frameshift_variant	28972	exon4			.	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.241delC	3.37:g.52741760delC	ENSP00000473265:p.Gln81fs	Somatic	331	.	.		WXS	Illumina HiSeq	Phase_I	202	43	0.213	NM_014041	B3KNF8|Q9BVW1	Frame_Shift_Del	DEL	ENST00000602728.1	37																																																																																				.	.	none		0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		-	52741760	C	-	52741760	7	5	21	1	0	1	0	1	0	0	0	0	15022	827	29	0	456	0	SPCS1	3	52741760	Frame_Shift_Del	DEL	C	TCGA-FM-8000-01A-11D-2210-10	332418	52741760	145280670	47	4921										
ERC2	26059	hgsc.bcm.edu	37	chr3	56052950	56052950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acagagcttcctctagcgtcGccagtgcagtatctgtatta	9	11	2	1	rs201400364		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:56052950G>A	ENST00000288221.6	-	8	2006	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	584						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCTAGCGTCGCCAGTGCAGT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		17318	0.0		0.001	False		,,,				2504	0.0				p.A584V		Atlas-SNP	.											.	ERC2	221	.	0			c.C1751T						PASS	.						143	125	131					3																	56052950		1958	4155	6113	SO:0001583	missense	26059	exon8			AGCGTCGCCAGTG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1751C>T	3.37:g.56052950G>A	ENSP00000288221:p.Ala584Val	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	148	57	0.385135	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.84|13.84	2.357442|2.357442	0.41801|0.41801	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.45276|.	0.9|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68320|.	0.2988|.	L|L	0.44542|0.44542	1.39|1.39	0.53688|0.53688	D|D	0.999973|0.999973	P|.	0.35923|.	0.528|.	B|.	0.30029|.	0.11|.	T|.	0.63734|.	-0.6570|.	10|.	0.49607|.	T|.	0.09|.	-10.6087|-10.6087	19.2601|19.2601	0.93964|0.93964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	584|.	O15083|.	ERC2_HUMAN|.	V|X	584|223	ENSP00000288221:A584V|.	ENSP00000288221:A584V|.	A|R	-|-	2|1	0|2	ERC2|ERC2	56027990|56027990	1.000000|1.000000	0.71417|0.71417	0.616000|0.616000	0.29078|0.29078	0.002000|0.002000	0.02628|0.02628	9.715000|9.715000	0.98748|0.98748	2.641000|2.641000	0.89580|0.89580	0.650000|0.650000	0.86243|0.86243	GCG|CGA	G|1.000;A|0.000	0.000	strong		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		A	56052950	G	A	56052950	3	1	21	1	0	0	0	0	1	0	0	0	5211	1087	38	1	1152	1	ERC2	3	56052950	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	3311190	56052950	141969480	48	4922										
DNAH12	201625	hgsc.bcm.edu	37	chr3	57494905	57494905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggacctccttcatcttcaagCgatttaactggtggtttcac	8	11	4	0	rs150553536	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308																																					p.S168S		Atlas-SNP	.											DNAH12L,NS,carcinoma,-1,2	DNAH12	182	2	0			c.G504A						scavenged	.	C	,	1,4405	2.1+/-5.4	0,1,2202	84	85	85		504,504	5.7	1	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	168/3093,168/458	57494905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	201625	exon6			TTCAAGCGATTTA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.504G>A	3.37:g.57494905C>T		Somatic	442	0	0		WXS	Illumina HiSeq	Phase_I	318	4	0.0125786	NM_198564	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																				C|1.000;T|0.000	0.000	strong		0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57494905	C	T	57494905	2	4	21	1	0	0	0	0	0	0	0	1	4600	755	27	1		1	DNAH12	3	57494905	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1441955	57494905	140527525	49	4923										
FRMD4B	23150	hgsc.bcm.edu	37	chr3	69230472	69230472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agtcacactctgcatagggtGtgtacccggcaatgtagtaa	11	9	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:69230472G>A	ENST00000398540.3	-	21	2512	c.2429C>T	c.(2428-2430)aCa>aTa	p.T810I	FRMD4B_ENST00000478263.1_Missense_Mutation_p.T462I|FRMD4B_ENST00000542259.1_Missense_Mutation_p.T756I	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	810					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGCATAGGGTGTGTACCCGGC	0.483																																					p.T810I		Atlas-SNP	.											.	FRMD4B	90	.	0			c.C2429T						PASS	.						60	61	61					3																	69230472		1950	4148	6098	SO:0001583	missense	23150	exon21			TAGGGTGTGTACC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2429C>T	3.37:g.69230472G>A	ENSP00000381549:p.Thr810Ile	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_015123	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534382	0.45073	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83250	-1.7;-1.7	5.83	4.94	0.65067	.	0.763911	0.12619	N	0.453162	T	0.71634	0.3363	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.02	B;B	0.13407	0.009;0.009	T	0.64257	-0.6450	10	0.87932	D	0	0.0843	16.0743	0.80958	0.0:0.0:0.8649:0.1351	.	654;810	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	I	810;756;462	ENSP00000381549:T810I;ENSP00000437658:T756I	ENSP00000381549:T810I	T	-	2	0	FRMD4B	69313162	0.427000	0.25514	0.002000	0.10522	0.958000	0.62258	3.999000	0.57031	1.424000	0.47217	0.591000	0.81541	ACA	.	.	none		0.483	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			A	69230472	G	A	69230472	3	1	21	1	0	0	0	0	1	0	0	0	6052	1377	48	2	687	2	FRMD4B	3	69230472	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	11735567	69230472	128791958	50	4924										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97887970	97887970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgaccaatggactgtgcatcCggctattaatcttgtcatat	8	9	2	1	rs72933946	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:97887970C>T	ENST00000356526.2	+	1	427	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACTGTGCATCCGGCTATTAAT	0.373																																					p.R143W		Atlas-SNP	.											OR5H15,NS,carcinoma,-2,1	OR5H15	70	1	0			c.C427T						scavenged	.						73	72	72					3																	97887970		2203	4297	6500	SO:0001583	missense	403274	exon1			TGCATCCGGCTAT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.427C>T	3.37:g.97887970C>T	ENSP00000373195:p.Arg143Trp	Somatic	509	3	0.00589391		WXS	Illumina HiSeq	Phase_I	356	8	0.0224719	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.344	0.063283	0.08388	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00130	8.69	2.48	-0.601	0.11638	GPCR, rhodopsin-like superfamily (1);	1.476590	0.04503	N	0.381661	T	0.00109	0.0003	L	0.34521	1.04	0.09310	N	1	B	0.18166	0.026	B	0.15870	0.014	T	0.19516	-1.0303	10	0.34782	T	0.22	.	3.5209	0.07741	0.0:0.4065:0.1978:0.3956	.	143	A6NDH6	O5H15_HUMAN	W	143	ENSP00000373195:R143W	ENSP00000373195:R143W	R	+	1	2	OR5H15	99370660	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.931000	0.01556	-0.339000	0.08401	-1.206000	0.01644	CGG	C|0.965;A|0.035	.	alt		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			T	97887970	C	T	97887970	3	4	21	1	0	0	0	0	1	0	0	0	11161	643	23	1	429	1	OR5H15	3	97887970	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	28657498	97887970	100134460	51	4925										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130159037	130159037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttttccaaatgcttgcattcGagaggctttcttacctgaag	8	9	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:130159037G>A	ENST00000432398.2	+	35	6349	c.5855G>A	c.(5854-5856)cGa>cAa	p.R1952Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1952Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1952	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCTTGCATTCGAGAGGCTTTC	0.393																																					p.R1952Q		Atlas-SNP	.											.	COL6A5	205	.	0			c.G5855A						PASS	.						71	65	67					3																	130159037		1876	4103	5979	SO:0001583	missense	256076	exon35			GCATTCGAGAGGC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5855G>A	3.37:g.130159037G>A	ENSP00000390895:p.Arg1952Gln	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	117	52	0.444444	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	5.461	0.270143	0.10349	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.88586	-2.32;-2.4	5.63	-2.94	0.05581	.	.	.	.	.	T	0.62732	0.2452	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57700	-0.7766	9	0.13470	T	0.59	.	6.1151	0.20122	0.5337:0.0:0.3505:0.1158	.	1952	A8TX70-2	.	Q	1952	ENSP00000390895:R1952Q;ENSP00000265379:R1952Q	ENSP00000265379:R1952Q	R	+	2	0	COL6A5	131641727	0.451000	0.25705	0.007000	0.13788	0.227000	0.25037	1.081000	0.30791	-0.396000	0.07703	-0.414000	0.06135	CGA	.	.	none		0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130159037	G	A	130159037	3	1	21	1	0	0	0	0	1	0	0	0	3702	1058	37	1	5989	1	COL6A5	3	130159037	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	32271067	130159037	67863393	52	4926										
FAIM	55179	hgsc.bcm.edu	37	chr3	138341028	138341028	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atttttctgttttattatgtAggaagagataagaaaagagt	9	1	1	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:138341028A>G	ENST00000393035.2	+	3	220		c.e3-1		FAIM_ENST00000360570.3_Splice_Site|FAIM_ENST00000338446.4_Splice_Site|FAIM_ENST00000393034.2_Splice_Site|FAIM_ENST00000464668.1_Splice_Site	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						TTTATTATGTAGGAAGAGATA	0.303																																					.		Atlas-SNP	.											.	FAIM	27	.	0			c.112-2A>G						PASS	.						40	42	41					3																	138341028		2202	4299	6501	SO:0001630	splice_region_variant	55179	exon3			TTATGTAGGAAGA	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.112-1A>G	3.37:g.138341028A>G		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	24	6	0.25	NM_001033032	Q6IAN2	Splice_Site	SNP	ENST00000393035.2	37	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089156	0.55968	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2885	0.66260	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAIM	139823718	1.000000	0.71417	0.968000	0.41197	0.640000	0.38277	9.295000	0.96095	2.252000	0.74401	0.528000	0.53228	.	.	.	none		0.303	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032	Intron	G	138341028	A	G	138341028	5	3	21	1	0	0	0	0	0	0	1	0	5375	434	15	3	270	3	FAIM	3	138341028	Splice_Site	SNP	A	TCGA-FM-8000-01A-11D-2210-10	8181991	138341028	59681402	53	4927										
TRIM42	287015	hgsc.bcm.edu	37	chr3	140406661	140406661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgaaaagagatcagaaatggCtttctcaagttgcgcagcat	10	8	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:140406661C>T	ENST00000286349.3	+	3	1328	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	379						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGAAATGGCTTTCTCAAGT	0.383																																					p.G379G		Atlas-SNP	.											.	TRIM42	143	.	0			c.C1137T						PASS	.						75	74	75					3																	140406661		2203	4300	6503	SO:0001819	synonymous_variant	287015	exon3			AAATGGCTTTCTC	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1137C>T	3.37:g.140406661C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	126	57	0.452381	NM_152616	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	CCDS3113.1																																																																																			.	.	none		0.383	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140406661	C	T	140406661	2	4	21	1	0	0	0	0	0	0	0	1	16514	784	28	2		2	TRIM42	3	140406661	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	2065633	140406661	57615769	54	4928										
P2RY13	53829	hgsc.bcm.edu	37	chr3	151047297	151047297	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggatactcagttctctctgtCttcttatggcggcagtcatt	9	10	6	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:151047297C>T	ENST00000325602.5	-	1	39	c.20G>A	c.(19-21)aGa>aAa	p.R7K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	7					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTCTCTCTGTCTTCTTATGGC	0.353																																					p.R7K		Atlas-SNP	.											P2RY13_ENST00000325602,NS,carcinoma,0,1	P2RY13	80	1	0			c.G20A						scavenged	.						111	108	109					3																	151047297		692	1591	2283	SO:0001583	missense	53829	exon1			CTCTGTCTTCTTA	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.20G>A	3.37:g.151047297C>T	ENSP00000320376:p.Arg7Lys	Somatic	319	0	0		WXS	Illumina HiSeq	Phase_I	257	4	0.0155642	NM_176894	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	1.303	-0.604403	0.03717	.	.	ENSG00000181631	ENST00000325602	T	0.37411	1.2	4.32	2.51	0.30379	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.32918	0.39	B	0.26416	0.069	T	0.23655	-1.0182	9	0.05436	T	0.98	.	6.4951	0.22138	0.0:0.7159:0.1822:0.1019	.	7	Q9BPV8	P2Y13_HUMAN	K	7	ENSP00000320376:R7K	ENSP00000320376:R7K	R	-	2	0	P2RY13	152529987	0.012000	0.17670	0.093000	0.20910	0.022000	0.10575	1.512000	0.35812	0.386000	0.24997	-0.222000	0.12452	AGA	.	.	none		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		T	151047297	C	T	151047297	3	4	21	1	0	0	0	0	1	0	0	0	11350	913	32	2	1052	2	P2RY13	3	151047297	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	10640636	151047297	46975133	55	4929										
USP13	8975	hgsc.bcm.edu	37	chr3	179474854	179474854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttccagatcgcctgatgaacCaattgatagaccgtatgtat	8	9	0	5			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:179474854C>A	ENST00000263966.3	+	16	2407	c.1936C>A	c.(1936-1938)Caa>Aaa	p.Q646K	USP13_ENST00000496897.1_Missense_Mutation_p.Q581K|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	646	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Q646K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCTGATGAACCAATTGATAGA	0.363																																					p.Q646K		Atlas-SNP	.											USP13,NS,carcinoma,0,2	USP13	117	2	1	Substitution - Missense(1)	kidney(1)	c.C1936A						scavenged	.						266	260	262					3																	179474854		2203	4300	6503	SO:0001583	missense	8975	exon16			ATGAACCAATTGA	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1936C>A	3.37:g.179474854C>A	ENSP00000263966:p.Gln646Lys	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	233	3	0.0128755	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	8.347	0.829987	0.16749	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.13089	2.62;2.63	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.837215	0.11186	N	0.590459	T	0.07954	0.0199	N	0.08118	0	0.29844	N	0.828969	B	0.09022	0.002	B	0.04013	0.001	T	0.17440	-1.0369	10	0.14656	T	0.56	-3.4461	12.496	0.55929	0.1667:0.8333:0.0:0.0	.	646	Q92995	UBP13_HUMAN	K	646;581	ENSP00000263966:Q646K;ENSP00000417146:Q581K	ENSP00000263966:Q646K	Q	+	1	0	USP13	180957548	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.663000	0.61532	2.733000	0.93635	0.655000	0.94253	CAA	.	.	none		0.363	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			A	179474854	C	A	179474854	3	1	21	1	0	0	0	0	1	0	0	0	17041	595	21	4	1998	4	USP13	3	179474854	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	28427557	179474854	18547576	56	4930										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183273173	183273173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aatagttgctggctgcggcaAgcaccacgcggtggcaggag	16	10	0	0	rs140971016		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:183273173A>G	ENST00000341319.3	-	1	304	c.269T>C	c.(268-270)cTt>cCt	p.L90P		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	90	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGCTGCGGCAAGCACCACGCG	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		15531	0.0		0.0	False		,,,				2504	0.001				p.L90P		Atlas-SNP	.											.	KLHL6	100	.	0			c.T269C						PASS	.	A	PRO/LEU	0,4406		0,0,2203	98	88	92		269	5.6	1	3	dbSNP_134	92	1,8599		0,1,4299	no	missense	KLHL6	NM_130446.2	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	90/622	183273173	1,13005	2203	4300	6503	SO:0001583	missense	89857	exon1			GCGGCAAGCACCA	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.269T>C	3.37:g.183273173A>G	ENSP00000341342:p.Leu90Pro	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	147	58	0.394558	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386970	0.82902	0.0	1.16E-4	ENSG00000172578	ENST00000341319	D	0.90004	-2.6	5.56	5.56	0.83823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98701	1.0700	10	0.87932	D	0	.	15.7124	0.77641	1.0:0.0:0.0:0.0	.	90	Q8WZ60	KLHL6_HUMAN	P	90	ENSP00000341342:L90P	ENSP00000341342:L90P	L	-	2	0	KLHL6	184755867	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.483000	0.81158	2.108000	0.64289	0.533000	0.62120	CTT	A|1.000;G|0.000	0.000	weak		0.507	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		G	183273173	A	G	183273173	3	3	21	1	0	0	0	0	1	0	0	0	8393	72	3	3	1624	3	KLHL6	3	183273173	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3798319	183273173	14749257	57	4931										
BCL6	604	hgsc.bcm.edu	37	chr3	187442783	187442783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggctcttcagagtctgaagGtgccggaaacgggtgccaca	14	10	3	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr3:187442783G>T	ENST00000406870.2	-	9	2289	c.1923C>A	c.(1921-1923)caC>caA	p.H641Q	BCL6_ENST00000450123.2_Missense_Mutation_p.H585Q|BCL6_ENST00000232014.4_Missense_Mutation_p.H641Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	641					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAGTCTGAAGGTGCCGGAAAC	0.562			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																p.H641Q		Atlas-SNP	.		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	BCL6	107	.	0			c.C1923A						PASS	.						112	109	110					3																	187442783		2203	4300	6503	SO:0001583	missense	604	exon9			CTGAAGGTGCCGG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1923C>A	3.37:g.187442783G>T	ENSP00000384371:p.His641Gln	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	88	32	0.363636	NM_001706	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213582	0.79352	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.18338	2.22;2.22;2.22	5.78	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	N	0.16602	0.42	0.51233	D	0.999912	D;D	0.69078	0.975;0.997	P;D	0.81914	0.857;0.995	T	0.07424	-1.0773	10	0.19590	T	0.45	.	13.9219	0.63937	0.0728:0.0:0.9272:0.0	.	585;641	B8PSA7;P41182	.;BCL6_HUMAN	Q	641;641;585	ENSP00000384371:H641Q;ENSP00000232014:H641Q;ENSP00000413122:H585Q	ENSP00000232014:H641Q	H	-	3	2	BCL6	188925477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	1.441000	0.47550	0.655000	0.94253	CAC	.	.	none		0.562	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		T	187442783	G	T	187442783	3	4	21	1	0	0	0	0	1	0	0	0	1376	1252	44	4	205	4	BCL6	3	187442783	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	4169610	187442783	10579647	58	4932										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10444982	10444982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgcattctggtaggtcaggcGtacatgatgccgtctgatgc	13	10	3	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:10444982G>A	ENST00000326756.3	-	3	3409	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	991					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGTCAGGCGTACATGATGC	0.383																																					p.R991C		Atlas-SNP	.											ZNF518B,colon,carcinoma,+1,1	ZNF518B	116	1	0			c.C2971T						scavenged	.						114	106	109					4																	10444982		2203	4300	6503	SO:0001583	missense	85460	exon3			TCAGGCGTACATG	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2971C>T	4.37:g.10444982G>A	ENSP00000317614:p.Arg991Cys	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	181	3	0.0165746	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898165	0.52227	.	.	ENSG00000178163	ENST00000326756	T	0.01821	4.62	6.17	6.17	0.99709	.	0.253503	0.33792	N	0.004558	T	0.02230	0.0069	L	0.50333	1.59	0.41240	D	0.986633	D	0.55172	0.97	B	0.34873	0.191	T	0.54098	-0.8344	10	0.87932	D	0	-14.1305	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	991	Q9C0D4	Z518B_HUMAN	C	991	ENSP00000317614:R991C	ENSP00000317614:R991C	R	-	1	0	ZNF518B	10054080	0.073000	0.21202	0.131000	0.22000	0.272000	0.26649	2.076000	0.41548	2.941000	0.99782	0.655000	0.94253	CGC	.	.	none		0.383	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		A	10444982	G	A	10444982	3	1	21	1	0	0	0	0	1	0	0	0	17960	1145	40	1	257	1	ZNF518B	4	10444982	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		10444982	180709294	59	4933										
SLC10A4	201780	hgsc.bcm.edu	37	chr4	48490448	48490448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aattttctattactaggtttCcctgtggtctctgctagtga	8	8	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:48490448C>T	ENST00000273861.4	+	3	1025	c.806C>T	c.(805-807)tCc>tTc	p.S269F	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TACTAGGTTTCCCTGTGGTCT	0.453																																					p.S269F		Atlas-SNP	.											.	SLC10A4	23	.	0			c.C806T						PASS	.						152	157	155					4																	48490448		2203	4300	6503	SO:0001583	missense	201780	exon3			AGGTTTCCCTGTG	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.806C>T	4.37:g.48490448C>T	ENSP00000273861:p.Ser269Phe	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	44	14	0.318182	NM_152679	Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640924	0.87859	.	.	ENSG00000145248	ENST00000273861	T	0.15372	2.43	5.55	5.55	0.83447	.	0.096024	0.85682	D	0.000000	T	0.29458	0.0734	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.02126	-1.1209	10	0.10111	T	0.7	0.371	19.8809	0.96899	0.0:1.0:0.0:0.0	.	269	Q96EP9	NTCP4_HUMAN	F	269	ENSP00000273861:S269F	ENSP00000273861:S269F	S	+	2	0	SLC10A4	48185205	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.445000	0.80570	2.771000	0.95319	0.561000	0.74099	TCC	.	.	none		0.453	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		T	48490448	C	T	48490448	3	4	21	1	0	0	0	0	1	0	0	0	14376	855	30	2	816	2	SLC10A4	4	48490448	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	38045466	48490448	142663828	60	4934										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537081	88537081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gaaagcagtgatagcagtgaCagcagcaatagcagtgacag	13	7	0	3	rs367717407|rs370267258	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		Atlas-SNP	.											.	DSPP	174	.	0			c.C3267T						PASS	.	C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	25	8	0.32	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	21	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88537081	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	40046633	88537081	102617195	61	4935										
HERC3	8916	hgsc.bcm.edu	37	chr4	89627997	89627997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agcggggaggagtacttgccGgtggcccacacttgctacaa	14	11	0	0	rs147857680	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:89627997G>A	ENST00000402738.1	+	26	3278	c.3039G>A	c.(3037-3039)ccG>ccA	p.P1013P	FAM13A-AS1_ENST00000500765.1_RNA|HERC3_ENST00000264345.3_Silent_p.P1013P|HERC3_ENST00000543130.1_Silent_p.P457P	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1013	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGTACTTGCCGGTGGCCCACA	0.577											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1013P		Atlas-SNP	.											HERC3,NS,carcinoma,+1,1	HERC3	82	1	0			c.G3039A						scavenged	.	G		0,4406		0,0,2203	103	94	97		3039	-9.9	0	4	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HERC3	NM_014606.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1013/1051	89627997	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8916	exon26			CTTGCCGGTGGCC	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.3039G>A	4.37:g.89627997G>A		Somatic	216	1	0.00462963	1268	WXS	Illumina HiSeq	Phase_I	177	3	0.0169492	NM_014606	A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	CCDS34028.1																																																																																			G|1.000;A|0.000	0.000	strong		0.577	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		A	89627997	G	A	89627997	2	1	21	1	0	0	0	0	0	0	0	1	7059	1103	39	1		1	HERC3	4	89627997	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1090916	89627997	101526279	62	4936										
ATOH1	474	hgsc.bcm.edu	37	chr4	94750977	94750977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttctcgactttcgaggacagCgccctgacagcgatgatggc	12	12	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:94750977C>T	ENST00000306011.3	+	1	936	c.900C>T	c.(898-900)agC>agT	p.S300S		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	300					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TCGAGGACAGCGCCCTGACAG	0.607																																					p.S300S		Atlas-SNP	.											.	ATOH1	40	.	0			c.C900T						PASS	.						66	71	69					4																	94750977		2203	4300	6503	SO:0001819	synonymous_variant	474	exon1			GGACAGCGCCCTG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.900C>T	4.37:g.94750977C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	13	0.351351	NM_005172	Q14CT9	Silent	SNP	ENST00000306011.3	37	CCDS3638.1																																																																																			.	.	none		0.607	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		T	94750977	C	T	94750977	2	4	21	1	0	0	0	0	0	0	0	1	1112	767	27	1		1	ATOH1	4	94750977	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	5122980	94750977	96403299	63	4937										
NUDT6	11162	hgsc.bcm.edu	37	chr4	123814096	123814096	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cacagtcaggtcaattttgtCaaacccttctctgtacccat	5	13	4	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:123814096C>T	ENST00000304430.5	-	5	871	c.838G>A	c.(838-840)Gac>Aac	p.D280N	FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000502270.1_Missense_Mutation_p.D111N|NUDT6_ENST00000608639.1_5'Flank|FGF2_ENST00000608478.1_3'UTR|NUDT6_ENST00000339154.2_Missense_Mutation_p.D111N	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	280						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TCAATTTTGTCAAACCCTTCT	0.423																																					p.D280N		Atlas-SNP	.											.	NUDT6	50	.	0			c.G838A						PASS	.						94	93	93					4																	123814096		2203	4300	6503	SO:0001583	missense	11162	exon5			TTTTGTCAAACCC	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.838G>A	4.37:g.123814096C>T	ENSP00000306070:p.Asp280Asn	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	96	34	0.354167	NM_007083	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936405	0.52972	.	.	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.29655	1.56;1.56;1.56	5.11	5.11	0.69529	NUDIX hydrolase domain-like (1);	0.313784	0.34314	N	0.004066	T	0.34164	0.0888	M	0.71581	2.175	0.37755	D	0.926118	P	0.34462	0.454	B	0.31290	0.127	T	0.42899	-0.9424	10	0.59425	D	0.04	-23.1859	14.2122	0.65771	0.0:0.8508:0.1492:0.0	.	280	P53370	NUDT6_HUMAN	N	280;111;111	ENSP00000306070:D280N;ENSP00000344011:D111N;ENSP00000424117:D111N	ENSP00000306070:D280N	D	-	1	0	NUDT6	124033546	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.142000	0.50601	2.380000	0.81148	0.650000	0.86243	GAC	.	.	none		0.423	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		T	123814096	C	T	123814096	3	4	21	1	0	0	0	0	1	0	0	0	10743	826	29	2	116	2	NUDT6	4	123814096	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	29063119	123814096	67340180	64	4938										
FAT4	79633	hgsc.bcm.edu	37	chr4	126412678	126412678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acggtcgcagggccgagggaGgacctgtgggcacccaggca	18	12	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:126412678G>A	ENST00000394329.3	+	17	14714	c.14701G>A	c.(14701-14703)Gga>Aga	p.G4901R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3142R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4901					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCCGAGGGAGGACCTGTGGG	0.537																																					p.G4901R		Atlas-SNP	.											.	FAT4	1752	.	0			c.G14701A						PASS	.						60	58	59					4																	126412678		2203	4300	6503	SO:0001583	missense	79633	exon17			GAGGGAGGACCTG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14701G>A	4.37:g.126412678G>A	ENSP00000377862:p.Gly4901Arg	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	141	60	0.425532	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518282	0.64634	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89617	-2.38;-2.54	5.19	5.19	0.71726	.	0.000000	0.33875	U	0.004462	D	0.93818	0.8023	M	0.79123	2.44	0.52501	D	0.999958	D;D;D	0.69078	0.99;0.997;0.99	P;P;P	0.62382	0.901;0.881;0.901	D	0.94568	0.7768	10	0.87932	D	0	.	17.7328	0.88383	0.0:0.0:1.0:0.0	.	3142;4901;4900	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4901;3142	ENSP00000377862:G4901R;ENSP00000335169:G3142R	ENSP00000335169:G3142R	G	+	1	0	FAT4	126632128	1.000000	0.71417	0.824000	0.32777	0.750000	0.42670	5.265000	0.65519	2.425000	0.82216	0.491000	0.48974	GGA	.	.	none		0.537	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126412678	G	A	126412678	3	1	21	1	0	0	0	0	1	0	0	0	5692	1001	35	2	14767	2	FAT4	4	126412678	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2598582	126412678	64741598	65	4939										
GYPA	2994	hgsc.bcm.edu	37	chr4	145041720	145041720	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	7	10	2	1	rs7682260	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:145041720A>G	ENST00000283126.7	-	1	93				GYPA_ENST00000512789.1_Intron|GYPA_ENST00000360771.4_Missense_Mutation_p.L20S|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.L20S|GYPA_ENST00000504786.1_Missense_Mutation_p.L20S|GYPA_ENST00000512064.1_Missense_Mutation_p.L20S|GYPA_ENST00000535709.1_5'UTR|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353													G|||	1428	0.285144	0.1944	0.3545	5008	,	,		12360	0.3125		0.2813	False		,,,				2504	0.3344				p.L20S		Atlas-SNP	.											GYPA,NS,carcinoma,0,1	GYPA	27	1	0			c.T59C						scavenged	.	G	SER/LEU	737,3513		243,251,1631	57	30	39		59	-3.4	0	4	dbSNP_116	39	1997,6329		706,585,2872	no	missense	GYPA	NM_002099.6	145	949,836,4503	GG,GA,AA		23.9851,17.3412,21.7398	benign	20/151	145041720	2734,9842	2125	4163	6288	SO:0001627	intron_variant	2993	exon2			GTACTTAATGCTG		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+20031T>C	4.37:g.145041720A>G		Somatic	181	29	0.160221		WXS	Illumina HiSeq	Phase_I	148	34	0.22973	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	G	2.787	-0.252207	0.05829	0.173412	0.239851	ENSG00000170180	ENST00000360771;ENST00000512064;ENST00000504786;ENST00000503627;ENST00000394119	T;T;T;T	0.04809	4.59;4.61;4.54;3.55	1.71	-3.42	0.04825	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46555	-0.9183	7	0.52906	T	0.07	.	0.8306	0.01129	0.3297:0.3169:0.194:0.1595	rs7682260;rs17845377;rs17858231	20;20;20	E9PD10;E7EQF3;Q16336	.;.;.	S	20	ENSP00000354003:L20S;ENSP00000426130:L20S;ENSP00000425549:L20S;ENSP00000421243:L20S	ENSP00000354003:L20S	L	-	2	0	GYPA	145261170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-2.458000	0.00538	-2.395000	0.00226	TTA	A|0.519;G|0.481	0.481	strong		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		G	145041720	A	G	145041720	1	3	21	0	1	0	0	0	0	0	0	0	6908	372	13	2		2	GYPA	4	145041720	Intron	SNP	A	TCGA-FM-8000-01A-11D-2210-10	18629042	145041720	46112556	66	4940										
ARHGAP10	79658	hgsc.bcm.edu	37	chr4	148787894	148787894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttttcaggggatgtttacctTctatcatcagggccatgaac	9	9	4	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:148787894T>C	ENST00000336498.3	+	7	868	c.629T>C	c.(628-630)tTc>tCc	p.F210S		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		ATGTTTACCTTCTATCATCAG	0.338											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F210S		Atlas-SNP	.											ARHGAP10,NS,carcinoma,-1,1	ARHGAP10	92	1	0			c.T629C						scavenged	.						131	122	125					4																	148787894		2203	4300	6503	SO:0001583	missense	79658	exon7			TTACCTTCTATCA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.629T>C	4.37:g.148787894T>C	ENSP00000336923:p.Phe210Ser	Somatic	255	0	0	1720	WXS	Illumina HiSeq	Phase_I	212	5	0.0235849	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273812	0.80580	.	.	ENSG00000071205	ENST00000336498	T	0.08008	3.14	5.93	5.93	0.95920	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.00468	-1.1721	10	0.41790	T	0.15	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	210	A1A4S6	RHG10_HUMAN	S	210	ENSP00000336923:F210S	ENSP00000336923:F210S	F	+	2	0	ARHGAP10	149007344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.342000	0.59341	2.281000	0.76405	0.533000	0.62120	TTC	.	.	none		0.338	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		C	148787894	T	C	148787894	3	2	21	1	0	0	0	0	1	0	0	0	862	1783	62	2	655	2	ARHGAP10	4	148787894	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	3746174	148787894	42366382	67	4941										
GRIA2	2891	hgsc.bcm.edu	37	chr4	158257596	158257596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agaggtgattgacttctcaaAgcccttcatgagcctcggga	11	10	2	4			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:158257596A>C	ENST00000264426.9	+	11	1820	c.1541A>C	c.(1540-1542)aAg>aCg	p.K514T	GRIA2_ENST00000507898.1_Missense_Mutation_p.K467T|GRIA2_ENST00000449365.1_Missense_Mutation_p.K467T|GRIA2_ENST00000296526.7_Missense_Mutation_p.K514T|GRIA2_ENST00000393815.2_Missense_Mutation_p.K467T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	514					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GACTTCTCAAAGCCCTTCATG	0.408																																					p.K514T		Atlas-SNP	.											.	GRIA2	358	.	0			c.A1541C						PASS	.						172	171	171					4																	158257596		2203	4300	6503	SO:0001583	missense	2891	exon11			TCTCAAAGCCCTT		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1541A>C	4.37:g.158257596A>C	ENSP00000264426:p.Lys514Thr	Somatic	270	1	0.0037037		WXS	Illumina HiSeq	Phase_I	197	84	0.426396	NM_000826	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013329	0.75161	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.27975	0.815	0.80722	D	1	P;D;D	0.89917	0.94;1.0;0.993	B;D;D	0.91635	0.346;0.999;0.968	T	0.48151	-0.9060	10	0.51188	T	0.08	.	15.8204	0.78638	1.0:0.0:0.0:0.0	.	514;514;467	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	T	467;467;514;514;467	ENSP00000426845:K467T;ENSP00000377403:K467T;ENSP00000296526:K514T;ENSP00000264426:K514T;ENSP00000389837:K467T	ENSP00000264426:K514T	K	+	2	0	GRIA2	158477046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.196000	0.70406	0.533000	0.62120	AAG	.	.	none		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			C	158257596	A	C	158257596	3	2	21	1	0	0	0	0	1	0	0	0	6768	72	3	5	1583	5	GRIA2	4	158257596	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	9469702	158257596	32896680	68	4942										
CLCN3	1182	hgsc.bcm.edu	37	chr4	170618497	170618497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtacctttttgaactgtttcCttttattcttctaggggtat	7	7	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr4:170618497C>T	ENST00000513761.1	+	9	1734	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	CLCN3_ENST00000347613.4_Missense_Mutation_p.P392L|CLCN3_ENST00000504131.2_Missense_Mutation_p.P375L|CLCN3_ENST00000360642.3_Missense_Mutation_p.P365L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	392					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAACTGTTTCCTTTTATTCTT	0.433																																					p.P392L		Atlas-SNP	.											CLCN3,NS,malignant_melanoma,0,1	CLCN3	85	1	0			c.C1175T						scavenged	.						155	155	155					4																	170618497		2203	4300	6503	SO:0001583	missense	1182	exon9			TGTTTCCTTTTAT	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1175C>T	4.37:g.170618497C>T	ENSP00000424603:p.Pro392Leu	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	240	3	0.0125	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962395	0.92791	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.84	5.84	0.93424	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	M	0.66439	2.03	0.80722	D	1	P;P;P;P;P	0.46952	0.887;0.795;0.874;0.795;0.863	P;P;P;P;P	0.53760	0.733;0.649;0.734;0.596;0.614	D	0.95372	0.8465	10	0.87932	D	0	-7.8258	20.1392	0.98050	0.0:1.0:0.0:0.0	.	365;375;365;392;392	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	392;392;365;375;365	ENSP00000424603:P392L;ENSP00000261514:P392L;ENSP00000353857:P365L;ENSP00000424540:P375L;ENSP00000425323:P365L	ENSP00000261514:P392L	P	+	2	0	CLCN3	170855072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.557000	0.71058	CCT	.	.	none		0.433	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			T	170618497	C	T	170618497	3	4	21	1	0	0	0	0	1	0	0	0	3464	681	24	2	1205	2	CLCN3	4	170618497	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	12360901	170618497	20535779	69	4943										
SDHA	6389	hgsc.bcm.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	7	10	2	3	rs3211483		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas																												p.V644M		Atlas-SNP	.											SDHA,NS,adenocarcinoma,0,2	SDHA	80	2	0			c.G1930A						scavenged	.						91	104	99					5																	256470		2203	4300	6503	SO:0001583	missense	6389	exon15	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	AGACCCGTGATCG	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1930G>A	5.37:g.256470G>A	ENSP00000264932:p.Val644Met	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	15.71|15.71	2.915077|2.915077	0.52546|0.52546	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|D;D;D	.|0.84730	.|-1.89;-1.89;-1.89	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.94056|0.94056	0.8095|0.8095	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.993;0.997	D|D	0.95511|0.95511	0.8586|0.8586	5|10	.|0.87932	.|D	.|0	.|.	13.8591|13.8591	0.63548|0.63548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3211483;rs17415232|rs3211483;rs17415232	.|596;238;563;644	.|E9PBJ5;B3KYA5;D6RFM5;P31040	.|.;.;.;DHSA_HUMAN	H|M	126|644;499;563;596	.|ENSP00000264932:V644M;ENSP00000426514:V563M;ENSP00000427703:V596M	.|ENSP00000264932:V644M	R|V	+|+	2|1	0|0	SDHA|SDHA	309470|309470	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.242000|0.242000	0.25591|0.25591	8.735000|8.735000	0.91549|0.91549	1.861000|1.861000	0.53984|0.53984	0.305000|0.305000	0.20034|0.20034	CGT|GTG	G|1.000;|0.000	.	weak		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	256470	G	A	256470	3	1	21	1	0	0	0	0	1	0	0	0	13963	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		256470	180658790	70	4944										
SLC6A3	6531	hgsc.bcm.edu	37	chr5	1406387	1406387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtcatctgctggatgtcgtcGctgaactgcccaacacctga	10	13	2	2	rs114563841		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:1406387G>A	ENST00000270349.9	-	12	1642	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	SLC6A3_ENST00000453492.2_Silent_p.S505S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	505					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGATGTCGTCGCTGAACTGCC	0.642													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17793	0.0		0.0	False		,,,				2504	0.0				p.S505S		Atlas-SNP	.											.	SLC6A3	102	.	0			c.C1515T						PASS	.						76	71	72					5																	1406387		2203	4300	6503	SO:0001819	synonymous_variant	6531	exon12			GTCGTCGCTGAAC		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1515C>T	5.37:g.1406387G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	84	26	0.309524	NM_001044	A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	CCDS3863.1																																																																																			G|0.995;A|0.005	0.005	strong		0.642	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		A	1406387	G	A	1406387	2	1	21	1	0	0	0	0	0	0	0	1	14685	1078	38	1		1	SLC6A3	5	1406387	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1149917	1406387	179508873	71	4945										
ADCY2	108	hgsc.bcm.edu	37	chr5	7826845	7826845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cttctaggttaccgaggagaCgagcctcgtcctgcagaccc	11	14	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:7826845C>T	ENST00000338316.4	+	25	3226	c.3137C>T	c.(3136-3138)aCg>aTg	p.T1046M	ADCY2_ENST00000537121.1_Missense_Mutation_p.T866M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1046					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCGAGGAGACGAGCCTCGTC	0.488																																					p.T1046M		Atlas-SNP	.											.	ADCY2	337	.	0			c.C3137T						PASS	.						103	92	96					5																	7826845		2203	4300	6503	SO:0001583	missense	108	exon25			AGGAGACGAGCCT	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3137C>T	5.37:g.7826845C>T	ENSP00000342952:p.Thr1046Met	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	60	22	0.366667	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957024	0.34565	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.84516	-1.86;-1.86	5.43	4.56	0.56223	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.053234	0.85682	D	0.000000	D	0.92557	0.7636	M	0.85299	2.745	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92270	0.5824	10	0.37606	T	0.19	.	15.5943	0.76566	0.1387:0.8613:0.0:0.0	.	866;1046	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	1046;158;879;866	ENSP00000342952:T1046M;ENSP00000444803:T866M	ENSP00000342952:T1046M	T	+	2	0	ADCY2	7879845	1.000000	0.71417	0.683000	0.30040	0.075000	0.17131	5.871000	0.69628	1.275000	0.44379	0.591000	0.81541	ACG	.	.	none		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7826845	C	T	7826845	3	4	21	1	0	0	0	0	1	0	0	0	294	536	19	1	3235	1	ADCY2	5	7826845	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	6420458	7826845	173088415	72	4946										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79032562	79032562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tctcaggaaggaaatctagtAttagaaaagtcaagcagaga	10	5	3	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:79032562A>G	ENST00000446378.2	+	2	8005	c.7974A>G	c.(7972-7974)gtA>gtG	p.V2658V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2658					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATCTAGTATTAGAAAAGT	0.408																																					p.V2658V		Atlas-SNP	.											CMYA5_ENST00000446378,lower_third,carcinoma,0,2	CMYA5	643	2	0			c.A7974G						scavenged	.						48	48	48					5																	79032562		1831	4091	5922	SO:0001819	synonymous_variant	202333	exon2			TCTAGTATTAGAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7974A>G	5.37:g.79032562A>G		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	118	4	0.0338983	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																			.	.	none		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79032562	A	G	79032562	2	3	21	1	0	0	0	0	0	0	0	1	3590	436	16	2		2	CMYA5	5	79032562	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	71205717	79032562	101882698	73	4947										
MEF2C	4208	hgsc.bcm.edu	37	chr5	88100564	88100564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aatctcacagtcacacagcaCgctcagctcataagccttct	5	15	5	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:88100564C>T	ENST00000437473.2	-	3	526	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	MEF2C_ENST00000514028.1_Missense_Mutation_p.V37M|MEF2C_ENST00000508569.1_Missense_Mutation_p.V37M|MEF2C_ENST00000340208.5_Missense_Mutation_p.V37M|MEF2C_ENST00000514015.1_Missense_Mutation_p.V37M|MEF2C_ENST00000424173.2_Missense_Mutation_p.V37M|MEF2C_ENST00000506554.1_Missense_Mutation_p.V37M|MEF2C_ENST00000510942.1_Missense_Mutation_p.V37M|MEF2C_ENST00000504921.2_Missense_Mutation_p.V37M|MEF2C_ENST00000539796.1_Missense_Mutation_p.V37M	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	37	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V37L(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACACAGCACGCTCAGCTCA	0.418										HNSCC(66;0.2)																											p.V37M		Atlas-SNP	.											MEF2C_ENST00000437473,NS,carcinoma,0,2	MEF2C	184	2	3	Substitution - Missense(3)	lung(3)	c.G109A						scavenged	.						150	138	142					5																	88100564		2203	4300	6503	SO:0001583	missense	4208	exon3			ACAGCACGCTCAG	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.109G>A	5.37:g.88100564C>T	ENSP00000396219:p.Val37Met	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	174	4	0.0229885	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395104	0.96009	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.65	5.65	0.86999	Transcription factor, MADS-box (6);	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.992	D	0.95912	0.8924	10	0.87932	D	0	-7.5495	19.7244	0.96157	0.0:1.0:0.0:0.0	.	37;37;37;37	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	M	37	ENSP00000340874:V37M;ENSP00000389610:V37M;ENSP00000421925:V37M;ENSP00000426665:V37M;ENSP00000396219:V37M;ENSP00000422390:V37M;ENSP00000425636:V37M;ENSP00000423597:V37M;ENSP00000424606:V37M;ENSP00000441153:V37M;ENSP00000423826:V37M;ENSP00000423656:V37M;ENSP00000424331:V37M;ENSP00000427163:V37M;ENSP00000426442:V37M;ENSP00000427286:V37M;ENSP00000426465:V37M	ENSP00000340874:V37M	V	-	1	0	MEF2C	88136320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	GTG	.	.	none		0.418	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		T	88100564	C	T	88100564	3	4	21	1	0	0	0	0	1	0	0	0	9457	536	19	1	1490	1	MEF2C	5	88100564	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	9068002	88100564	92814696	74	4948										
AQPEP	206338	hgsc.bcm.edu	37	chr5	115299001	115299001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aacgtctacaccgaccagggCgagcgcaggtaagggctgta	14	11	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:115299001C>T	ENST00000357872.4	+	1	811	c.687C>T	c.(685-687)ggC>ggT	p.G229G	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		229						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CCGACCAGGGCGAGCGCAGGT	0.662																																					p.G229G		Atlas-SNP	.											.	.	.	.	0			c.C687T						PASS	.						13	15	14					5																	115299001		2141	4234	6375	SO:0001819	synonymous_variant	0	exon1			CCAGGGCGAGCGC																												ENST00000357872.4:c.687C>T	5.37:g.115299001C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																			.	.	none		0.662	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115299001	C	T	115299001	2	4	21	1	0	0	0	0	0	0	0	1	834	755	27	1		1	AQPEP	5	115299001	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	27198437	115299001	65616259	75	4949										
ZNF608	57507	hgsc.bcm.edu	37	chr5	123984038	123984038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agcaactgtctaacgcagccGtcatgttggagattactgga	11	9	2	1	rs186374145		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:123984038G>A	ENST00000306315.5	-	4	2474	c.2039C>T	c.(2038-2040)aCg>aTg	p.T680M	ZNF608_ENST00000504926.1_Missense_Mutation_p.T253M	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	680							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAACGCAGCCGTCATGTTGGA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		17651	0.0		0.001	False		,,,				2504	0.0				p.T680M		Atlas-SNP	.											.	ZNF608	117	.	0			c.C2039T						PASS	.						117	120	119					5																	123984038		2203	4300	6503	SO:0001583	missense	57507	exon4			GCAGCCGTCATGT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2039C>T	5.37:g.123984038G>A	ENSP00000307746:p.Thr680Met	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.84	2.356303	0.41700	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.50277	0.75;0.75	5.88	5.88	0.94601	.	0.336013	0.35235	N	0.003341	T	0.41766	0.1173	N	0.14661	0.345	0.35596	D	0.807501	D	0.57899	0.981	P	0.47015	0.534	T	0.51919	-0.8644	10	0.51188	T	0.08	-7.3927	20.2315	0.98350	0.0:0.0:1.0:0.0	.	680	Q9ULD9	ZN608_HUMAN	M	253;680;680;680	ENSP00000427657:T253M;ENSP00000307746:T680M	ENSP00000307746:T680M	T	-	2	0	ZNF608	124011937	0.997000	0.39634	0.999000	0.59377	0.904000	0.53231	6.509000	0.73725	2.784000	0.95788	0.551000	0.68910	ACG	G|1.000;A|0.000	0.000	strong		0.458	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	123984038	G	A	123984038	3	1	21	1	0	0	0	0	1	0	0	0	18031	1145	40	1	2523	1	ZNF608	5	123984038	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	8685037	123984038	56931222	76	4950										
PKD2L2	27039	hgsc.bcm.edu	37	chr5	137228235	137228235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tatgtcatctctatttttggAcacttctgtgcctggtgaag	9	8	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:137228235A>T	ENST00000508883.1	+	3	226	c.200A>T	c.(199-201)gAc>gTc	p.D67V	PKD2L2_ENST00000508638.1_Missense_Mutation_p.D67V|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D33V|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D67V|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D67V			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	67					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATTTTTGGACACTTCTGTG	0.338																																					p.D67V		Atlas-SNP	.											.	PKD2L2	68	.	0			c.A200T						PASS	.						147	140	142					5																	137228235		1857	4103	5960	SO:0001583	missense	27039	exon3			TTTTGGACACTTC	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.200A>T	5.37:g.137228235A>T	ENSP00000424725:p.Asp67Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_001258448	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644784	0.67358	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72835	-0.31;0.23;-0.69;-0.23;-0.24	5.84	5.84	0.93424	.	0.078484	0.53938	D	0.000050	T	0.67487	0.2898	L	0.52905	1.665	0.80722	D	1	B;P;B	0.40731	0.036;0.728;0.328	B;B;B	0.37601	0.09;0.254;0.155	T	0.72308	-0.4332	10	0.72032	D	0.01	-18.009	15.8841	0.79226	1.0:0.0:0.0:0.0	.	67;67;67	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	V	33;67;67;67;67	ENSP00000344177:D33V;ENSP00000423382:D67V;ENSP00000425513:D67V;ENSP00000424725:D67V;ENSP00000290431:D67V	ENSP00000290431:D67V	D	+	2	0	PKD2L2	137256134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.233000	0.73108	0.496000	0.49642	GAC	.	.	none		0.338	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		T	137228235	A	T	137228235	3	4	21	1	0	0	0	0	1	0	0	0	11968	275	10	5	210	5	PKD2L2	5	137228235	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	13244197	137228235	43687025	77	4951										
DND1	373863	hgsc.bcm.edu	37	chr5	140052407	140052407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggcccacgcgctggaacagcGggataagctggtgctcgtac	15	12	0	0	rs72800920		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																					p.P76L		Atlas-SNP	.											DND1,NS,carcinoma,0,1	DND1	15	1	1	Substitution - Missense(1)	prostate(1)	c.C227T						scavenged	.						13	20	17					5																	140052407		2184	4291	6475	SO:0001583	missense	373863	exon3			AACAGCGGGATAA	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu	Somatic	21	1	0.047619		WXS	Illumina HiSeq	Phase_I	21	6	0.285714	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG	.	.	weak		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052407	G	A	140052407	3	1	21	1	0	0	0	0	1	0	0	0	4666	1116	39	1	842	1	DND1	5	140052407	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2824172	140052407	40862853	78	4952										
PCDHA6	56142	hgsc.bcm.edu	37	chr5	140209043	140209043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgacaatgctccggcgttcgCgcagcccgagtacacagtgt	12	13	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140209043C>T	ENST00000529310.1	+	1	1481	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	PCDHA6_ENST00000527624.1_Missense_Mutation_p.A456V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTTCGCGCAGCCCGAG	0.657																																					p.A456V		Atlas-SNP	.											PCDHA6_ENST00000529310,NS,carcinoma,+1,2	PCDHA6	442	2	0			c.C1367T						scavenged	.						52	58	56					5																	140209043		2203	4300	6503	SO:0001583	missense	56142	exon1			CGTTCGCGCAGCC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1367C>T	5.37:g.140209043C>T	ENSP00000433378:p.Ala456Val	Somatic	327	1	0.0030581		WXS	Illumina HiSeq	Phase_I	197	2	0.0101523	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	5.622	0.299519	0.10622	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01804	4.63;4.63	3.55	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.220936	0.22040	U	0.065461	T	0.02267	0.0070	L	0.37630	1.12	0.09310	N	1	B;P;P	0.41188	0.155;0.741;0.458	B;B;B	0.40410	0.328;0.118;0.11	T	0.47355	-0.9124	10	0.62326	D	0.03	.	12.6498	0.56755	0.1654:0.8346:0.0:0.0	.	456;456;456	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	V	456	ENSP00000433378:A456V;ENSP00000434113:A456V	ENSP00000434113:A456V	A	+	2	0	PCDHA6	140189227	0.000000	0.05858	0.890000	0.34922	0.006000	0.05464	-0.488000	0.06497	1.976000	0.57569	0.313000	0.20887	GCG	.	.	none		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		T	140209043	C	T	140209043	3	4	21	1	0	0	0	0	1	0	0	0	11528	768	27	1	1369	1	PCDHA6	5	140209043	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	156636	140209043	40706217	79	4953										
PCDHA6	56142	hgsc.bcm.edu	37	chr5	140209668	140209668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcgctgacagcgacggccacGgttctggtgtcgctggtgga	17	11	1	1	rs141570762	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140209668G>A	ENST00000529310.1	+	1	2106	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGGCCACGGTTCTGGTGT	0.692																																					p.T664T		Atlas-SNP	.											.	PCDHA6	442	.	0			c.G1992A						PASS	.						37	44	42					5																	140209668		2202	4297	6499	SO:0001819	synonymous_variant	56142	exon1			GGCCACGGTTCTG	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1992G>A	5.37:g.140209668G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_018909	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																			G|0.998;C|0.002	.	alt		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209668	G	A	140209668	2	1	21	1	0	0	0	0	0	0	0	1	11528	1103	39	1		1	PCDHA6	5	140209668	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	625	140209668	40705592	80	4954										
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140263476	140263476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtgagcgcgcgcgactctggCgtgccgcctctgggcagcaa	16	14	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140263476C>T	ENST00000289272.2	+	1	1623	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G541G|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACTCTGGCGTGCCGCCTC	0.692																																					p.G541G	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.C1623T						PASS	.						73	79	77					5																	140263476		2203	4299	6502	SO:0001819	synonymous_variant	56136	exon1			CTCTGGCGTGCCG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1623C>T	5.37:g.140263476C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	24	14	0.583333	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																			.	.	none		0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263476	C	T	140263476	2	4	21	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PCDHA13	5	140263476	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	53808	140263476	40651784	81	4955										
PCDHGA1	56114	hgsc.bcm.edu	37	chr5	140711925	140711925	+	Silent	SNP	C	C	T													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgctggaccagaacgacaaCgcgcccgagatcctgtaccc							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140711925C>T	ENST00000517417.1	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000378105.3_Silent_p.N558N	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N558N(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.647																																					p.N558N		Atlas-SNP	.											PCDHGA1_ENST00000517417,NS,carcinoma,0,4	PCDHGA1	397	4	2	Substitution - coding silent(2)	lung(2)	c.C1674T						scavenged	.						140	153	149					5																	140711925		2203	4300	6503	SO:0001819	synonymous_variant	56114	exon1			CGACAACGCGCCC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1674C>T	5.37:g.140711925C>T		Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	65	20	0.307692	NM_018912	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																			.	.	none		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140711925	C	T	140711925	2	4	21	1	0	0	0	0	0	0	0	1	11550	535	19	1		1	PCDHGA1	5	140711925	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	448449	140711925	40203335	82	4956	96	2								
PCDHGA1	56114	hgsc.bcm.edu	37	chr5	140711926	140711926	+	Missense_Mutation	SNP	G	G	A													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgctggaccagaacgacaacGcgcccgagatcctgtacccc							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:140711926G>A	ENST00000517417.1	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A559T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.647																																					p.A559T		Atlas-SNP	.											PCDHGA1_ENST00000517417,NS,carcinoma,0,4	PCDHGA1	397	4	0			c.G1675A						scavenged	.						135	148	144					5																	140711926		2203	4300	6503	SO:0001583	missense	56114	exon1			GACAACGCGCCCG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1675G>A	5.37:g.140711926G>A	ENSP00000431083:p.Ala559Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	65	3	0.0461538	NM_018912	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	3.266	-0.150071	0.06585	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.61742	0.08;0.08	3.92	-2.88	0.05682	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.462493	0.17896	N	0.158361	T	0.42268	0.1195	L	0.53617	1.68	0.09310	N	1	B;B	0.27559	0.026;0.181	B;B	0.15870	0.013;0.014	T	0.18304	-1.0341	10	0.28530	T	0.3	.	7.8166	0.29263	0.2962:0.1121:0.5917:0.0	.	559;559	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	T	559	ENSP00000431083:A559T;ENSP00000367345:A559T	ENSP00000367345:A559T	A	+	1	0	PCDHGA1	140692110	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.397000	0.00485	-0.867000	0.04063	-2.215000	0.00298	GCG	.	.	none		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140711926	G	A	140711926	3	1	21	1	0	0	0	0	1	0	0	0	11550	1087	38	1	1677	1	PCDHGA1	5	140711926	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1	140711926	40203334	83	4957	96	2								
RNF145	153830	hgsc.bcm.edu	37	chr5	158630641	158630641	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gccatgttgtttttttttttCtttttttttttcttggagaa	6	4	2	1	rs74770414|rs74841177|rs368977591		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Silent_p.K23K|RNF145_ENST00000520638.1_Silent_p.K9K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363																																					p.K25K		Atlas-SNP	.											RNF145,NS,carcinoma,-1,2	RNF145	110	2	0			c.G75A						scavenged	.						32	34	33					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830	exon2			TTTTTTCTTTTTT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-16G>A	5.37:g.158630641C>T		Somatic	22	2	0.0909091		WXS	Illumina HiSeq	Phase_I	30	7	0.233333	NM_001199380	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																			.	.	weak		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158630641	C	T	158630641	1	4	21	0	1	0	0	0	0	0	0	0	13447	912	32	2		2	RNF145	5	158630641	5'UTR	SNP	C	TCGA-FM-8000-01A-11D-2210-10	17918715	158630641	22284619	84	4958										
GRK6	2870	hgsc.bcm.edu	37	chr5	176857911	176857911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aaggcaaaagcaagaaatggCggcagatgctccagttccct	11	10	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr5:176857911C>T	ENST00000355472.5	+	2	259	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GRK6_ENST00000507633.1_Missense_Mutation_p.R31W|GRK6_ENST00000393576.3_Missense_Mutation_p.R31W|GRK6_ENST00000355958.5_Missense_Mutation_p.R31W|GRK6_ENST00000528793.1_Missense_Mutation_p.R31W	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	31	N-terminal.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGAAATGGCGGCAGATGCT	0.622																																					p.R31W		Atlas-SNP	.											GRK6,NS,adenocarcinoma,-1,2	GRK6	48	2	0			c.C91T						scavenged	.						73	64	67					5																	176857911		2203	4300	6503	SO:0001583	missense	2870	exon2			AAATGGCGGCAGA		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.91C>T	5.37:g.176857911C>T	ENSP00000347655:p.Arg31Trp	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_002082	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457134	0.84317	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	4.83	4.83	0.62350	Regulator of G protein signalling superfamily (1);	0.070085	0.56097	D	0.000026	T	0.20047	0.0482	M	0.82193	2.58	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.806;0.998	D;B;P	0.66084	0.941;0.278;0.707	T	0.01587	-1.1318	10	0.87932	D	0	-23.4325	17.9198	0.88962	0.0:1.0:0.0:0.0	.	31;31;31	P43250;P43250-2;D6RHX8	GRK6_HUMAN;.;.	W	31	ENSP00000347655:R31W;ENSP00000427581:R31W;ENSP00000377204:R31W;ENSP00000348230:R31W;ENSP00000433511:R31W	ENSP00000347655:R31W	R	+	1	2	GRK6	176790517	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.022000	0.57203	2.211000	0.71520	0.462000	0.41574	CGG	.	.	none		0.622	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		T	176857911	C	T	176857911	3	4	21	1	0	0	0	0	1	0	0	0	6793	759	27	1	97	1	GRK6	5	176857911	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	18227270	176857911	4057349	85	4959										
HIST1H3D	8351	hgsc.bcm.edu	37	chr6	26197212	26197212	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcctcctgcagcgccatcacCgccgagctctgaaaacgcag	10	17	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:26197212C>G	ENST00000356476.2	-	1	266	c.267G>C	c.(265-267)gcG>gcC	p.A89A	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Silent_p.A89A			P68431	H31_HUMAN	histone cluster 1, H3d	89					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCGCCATCACCGCCGAGCTCT	0.582																																					p.A89A	GBM(108;3816 4467)	Atlas-SNP	.											HIST1H3D,colon,carcinoma,0,1	HIST1H3D	31	1	0			c.G267C						PASS	.						76	73	74					6																	26197212		2203	4300	6503	SO:0001819	synonymous_variant	8351	exon2			CATCACCGCCGAG	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.267G>C	6.37:g.26197212C>G		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	109	36	0.330275	NM_003530	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	CCDS4590.1																																																																																			.	.	none		0.582	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		G	26197212	C	G	26197212	2	3	21	1	0	0	0	0	0	0	0	1	7158	639	23	4		4	HIST1H3D	6	26197212	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10		26197212	144917855	86	4960										
LTB	4050	hgsc.bcm.edu	37	chr6	31550123	31550123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtcaccagagaagtggctccTgccacagctagcaggaggga	14	11	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:31550123T>C	ENST00000429299.2	-	1	79	c.72A>G	c.(70-72)gcA>gcG	p.A24A	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Silent_p.A24A	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	24					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						AAGTGGCTCCTGCCACAGCTA	0.647																																					p.A24A		Atlas-SNP	.											.	LTB	19	.	0			c.A72G						PASS	.						69	50	57					6																	31550123		1509	2708	4217	SO:0001819	synonymous_variant	4050	exon1			GGCTCCTGCCACA	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.72A>G	6.37:g.31550123T>C		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	164	63	0.384146	NM_002341	P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	CCDS4703.1																																																																																			.	.	none		0.647	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			C	31550123	T	C	31550123	2	2	21	1	0	0	0	0	0	0	0	1	9070	1567	55	3		3	LTB	6	31550123	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10	5352911	31550123	139564944	87	4961										
DAAM2	23500	hgsc.bcm.edu	37	chr6	39832772	39832772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcagatgcagagtctgtacgCgtttgatgaggaggagacgg	16	6	2	5	rs574596379	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:39832772C>T	ENST00000398904.2	+	5	532	c.350C>T	c.(349-351)gCg>gTg	p.A117V	DAAM2_ENST00000274867.4_Missense_Mutation_p.A117V|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000538976.1_Missense_Mutation_p.A117V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	117	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTCTGTACGCGTTTGATGAG	0.572											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0029	5008	,	,		17783	0.0		0.0	False		,,,				2504	0.0				p.A117V		Atlas-SNP	.											.	DAAM2	101	.	0			c.C350T						PASS	.						83	97	92					6																	39832772		2092	4212	6304	SO:0001583	missense	23500	exon5			TGTACGCGTTTGA	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.350C>T	6.37:g.39832772C>T	ENSP00000381876:p.Ala117Val	Somatic	189	0	0	888	WXS	Illumina HiSeq	Phase_I	105	37	0.352381	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638456	0.47153	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.77620	-1.11;-1.11;-1.11	5.69	1.47	0.22746	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.460055	0.23541	N	0.047078	T	0.52451	0.1735	L	0.48362	1.52	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.08055	0.002;0.003	T	0.52102	-0.8620	10	0.36615	T	0.2	.	9.0456	0.36345	0.3782:0.5537:0.0:0.0681	.	117;117	G5EA45;Q86T65	.;DAAM2_HUMAN	V	117	ENSP00000274867:A117V;ENSP00000381876:A117V;ENSP00000437808:A117V	ENSP00000274867:A117V	A	+	2	0	DAAM2	39940750	0.840000	0.29493	0.012000	0.15200	0.795000	0.44927	1.720000	0.38022	0.695000	0.31675	0.655000	0.94253	GCG	.	.	none		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			T	39832772	C	T	39832772	3	4	21	1	0	0	0	0	1	0	0	0	4216	768	27	1	364	1	DAAM2	6	39832772	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	8282649	39832772	131282295	88	4962										
GSTA3	2940	hgsc.bcm.edu	37	chr6	52764808	52764808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggcatctttttcctcaggtCgacataagggcagaagaagg	12	8	2	2	rs45602042	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:52764808C>A	ENST00000211122.3	-	5	403	c.338G>T	c.(337-339)cGa>cTa	p.R113L	GSTA3_ENST00000370968.1_Missense_Mutation_p.R63L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	113	GST C-terminal.		R -> Q (in dbSNP:rs45602042). {ECO:0000269|Ref.3}.	RP -> PA (in Ref. 1; AAA74634). {ECO:0000305}.	glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCCTCAGGTCGACATAAGGG	0.388																																					p.R113L		Atlas-SNP	.											GSTA3,caecum,carcinoma,-1,1	GSTA3	21	1	0			c.G338T						PASS	.						194	177	183					6																	52764808		2203	4300	6503	SO:0001583	missense	2940	exon5			TCAGGTCGACATA	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.338G>T	6.37:g.52764808C>A	ENSP00000211122:p.Arg113Leu	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	147	55	0.37415	NM_000847	O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824098	0.16678	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.06849	4.49;4.49;3.25	3.91	1.91	0.25777	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.290327	0.31461	N	0.007611	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47262	-0.9131	10	0.48119	T	0.1	.	8.2476	0.31698	0.0:0.1509:0.579:0.2701	.	113	Q16772	GSTA3_HUMAN	L	63;113;63	ENSP00000360007:R63L;ENSP00000211122:R113L;ENSP00000399142:R63L	ENSP00000211122:R113L	R	-	2	0	GSTA3	52872767	0.352000	0.24895	0.008000	0.14137	0.007000	0.05969	2.182000	0.42556	0.971000	0.38288	-0.340000	0.08031	CGA	C|0.989;T|0.011	.	alt		0.388	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			A	52764808	C	A	52764808	3	1	21	1	0	0	0	0	1	0	0	0	6832	884	31	4	342	4	GSTA3	6	52764808	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	12932036	52764808	118350259	89	4963										
HCRTR2	3062	hgsc.bcm.edu	37	chr6	55113583	55113583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgagacctggttttttggaCagtccctttgcaaagtgatt	10	8	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:55113583C>A	ENST00000370862.3	+	2	706	c.370C>A	c.(370-372)Cag>Aag	p.Q124K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	124					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTTTTTGGACAGTCCCTTTG	0.433																																					p.Q124K		Atlas-SNP	.											.	HCRTR2	112	.	0			c.C370A						PASS	.						255	237	243					6																	55113583		2203	4299	6502	SO:0001583	missense	3062	exon2			TTTGGACAGTCCC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.370C>A	6.37:g.55113583C>A	ENSP00000359899:p.Gln124Lys	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	142	59	0.415493	NM_001526	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848733	0.17034	.	.	ENSG00000137252	ENST00000370862	T	0.71579	-0.58	4.65	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.238432	0.43747	D	0.000534	T	0.31544	0.0800	N	0.25825	0.765	0.36022	D	0.838786	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.008	T	0.10245	-1.0638	10	0.05959	T	0.93	.	9.4903	0.38955	0.1417:0.6016:0.2567:0.0	.	124;124	Q548Y0;O43614	.;OX2R_HUMAN	K	124	ENSP00000359899:Q124K	ENSP00000359899:Q124K	Q	+	1	0	HCRTR2	55221542	0.690000	0.27699	1.000000	0.80357	0.994000	0.84299	0.404000	0.20999	2.282000	0.76494	0.555000	0.69702	CAG	.	.	none		0.433	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			A	55113583	C	A	55113583	3	1	21	1	0	0	0	0	1	0	0	0	7002	479	17	4	376	4	HCRTR2	6	55113583	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	2348775	55113583	116001484	90	4964										
MDN1	23195	hgsc.bcm.edu	37	chr6	90437660	90437660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acaggtagatctgctccaaaCaggtctgtgatgtcctttga	10	9	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:90437660C>T	ENST00000369393.3	-	37	5479	c.5364G>A	c.(5362-5364)ctG>ctA	p.L1788L	MDN1_ENST00000428876.1_Silent_p.L1788L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1788					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCTCCAAACAGGTCTGTGA	0.448																																					p.L1788L		Atlas-SNP	.											.	MDN1	478	.	0			c.G5364A						PASS	.						128	111	116					6																	90437660		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon37			TCCAAACAGGTCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5364G>A	6.37:g.90437660C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			.	.	none		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90437660	C	T	90437660	2	4	21	1	0	0	0	0	0	0	0	1	9415	465	17	2		2	MDN1	6	90437660	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	35324077	90437660	80677407	91	4965										
EPHA7	2045	hgsc.bcm.edu	37	chr6	93982068	93982068	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgactccattgggatgctctGgttcctgccaggaaagctcg	12	11	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:93982068G>C	ENST00000369303.4	-	6	1581	c.1397C>G	c.(1396-1398)cCa>cGa	p.P466R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	466	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGATGCTCTGGTTCCTGCCA	0.448																																					p.P466R		Atlas-SNP	.											.	EPHA7	251	.	0			c.C1397G						PASS	.						275	254	261					6																	93982068		2203	4300	6503	SO:0001583	missense	2045	exon6			TGCTCTGGTTCCT	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1397C>G	6.37:g.93982068G>C	ENSP00000358309:p.Pro466Arg	Somatic	278	1	0.00359712		WXS	Illumina HiSeq	Phase_I	208	75	0.360577	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949958	0.73787	.	.	ENSG00000135333	ENST00000369303	T	0.74737	-0.87	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93291	0.7862	H	0.99811	4.8	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.95956	0.8958	10	0.87932	D	0	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	466;466;466	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	R	466	ENSP00000358309:P466R	ENSP00000358309:P466R	P	-	2	0	EPHA7	94038789	1.000000	0.71417	0.923000	0.36655	0.990000	0.78478	9.420000	0.97426	2.797000	0.96272	0.561000	0.74099	CCA	.	.	none		0.448	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			C	93982068	G	C	93982068	3	2	21	1	0	0	0	0	1	0	0	0	5172	1348	47	4	1647	4	EPHA7	6	93982068	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	3544408	93982068	77132999	92	4966										
REV3L	5980	hgsc.bcm.edu	37	chr6	111694135	111694135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggctgagtcaagagactgtCccatttcttttctggtgtga	11	8	3	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:111694135C>T	ENST00000358835.3	-	14	5877	c.5423G>A	c.(5422-5424)gGa>gAa	p.G1808E	REV3L_ENST00000368805.1_Missense_Mutation_p.G1808E|REV3L_ENST00000368802.3_Missense_Mutation_p.G1808E|REV3L_ENST00000435970.1_Missense_Mutation_p.G1730E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1808					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)		AAGAGACTGTCCCATTTCTTT	0.428								DNA polymerases (catalytic subunits)																													p.G1808E		Atlas-SNP	.											.	REV3L	386	.	0			c.G5423A						PASS	.						148	135	139					6																	111694135		2203	4300	6503	SO:0001583	missense	5980	exon13			GACTGTCCCATTT	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.5423G>A	6.37:g.111694135C>T	ENSP00000351697:p.Gly1808Glu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	70	32	0.457143	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.600138	0.00849	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01406	5.02;5.02;5.02;4.93	5.93	0.909	0.19332	Ribonuclease H-like (1);	1.297520	0.04829	N	0.438371	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36768	-0.9734	10	0.02654	T	1	-0.0059	2.2054	0.03934	0.1225:0.4906:0.1189:0.268	.	1808	O60673	DPOLZ_HUMAN	E	1808;1808;1808;1730	ENSP00000357792:G1808E;ENSP00000357795:G1808E;ENSP00000351697:G1808E;ENSP00000402003:G1730E	ENSP00000351697:G1808E	G	-	2	0	REV3L	111800828	0.032000	0.19561	0.030000	0.17652	0.264000	0.26372	-0.020000	0.12525	0.116000	0.18110	0.655000	0.94253	GGA	.	.	none		0.428	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111694135	C	T	111694135	3	4	21	1	0	0	0	0	1	0	0	0	13240	855	30	2	4049	2	REV3L	6	111694135	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	17712067	111694135	59420932	93	4967										
RSPO3	84870	hgsc.bcm.edu	37	chr6	127476585	127476585	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgtcagaagggagaacgaggTacaatcataataacaaaatg	10	5	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:127476585T>C	ENST00000356698.4	+	4	1223		c.e4+2		RSPO3_ENST00000368317.3_Splice_Site	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3						branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GAGAACGAGGTACAATCATAA	0.368																																					.		Atlas-SNP	.											RSPO3,NS,carcinoma,+2,1	RSPO3	32	1	0			c.634+2T>C						PASS	.						63	53	56					6																	127476585		2203	4300	6503	SO:0001630	splice_region_variant	84870	exon4			ACGAGGTACAATC	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.634+2T>C	6.37:g.127476585T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_032784	B2RC27|Q5VTV4|Q96K87	Splice_Site	SNP	ENST00000356698.4	37	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359375	0.61403	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6555	0.51315	0.0:0.0:0.1481:0.8519	.	.	.	.	.	-1	.	.	.	+	.	.	RSPO3	127518278	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.139000	0.50577	2.124000	0.65301	0.455000	0.32223	.	.	.	none		0.368	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	Intron	C	127476585	T	C	127476585	5	2	21	1	0	0	0	0	0	0	1	0	13711	1652	57	2	650	2	RSPO3	6	127476585	Splice_Site	SNP	T	TCGA-FM-8000-01A-11D-2210-10	15782450	127476585	43638482	94	4968										
KIAA0408	9729	hgsc.bcm.edu	37	chr6	127768258	127768258	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttacttacatgaagatcaggAtgagatttagcagggtgatc	11	5	1	4			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr6:127768258A>G	ENST00000483725.3	-	5	1542	c.1206T>C	c.(1204-1206)caT>caC	p.H402H	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GAAGATCAGGATGAGATTTAG	0.438																																					p.H402H		Atlas-SNP	.											.	KIAA0408	61	.	0			c.T1206C						PASS	.						80	80	80					6																	127768258		2203	4300	6503	SO:0001819	synonymous_variant	9729	exon5			ATCAGGATGAGAT	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1206T>C	6.37:g.127768258A>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	80	31	0.3875	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	CCDS34531.1																																																																																			.	.	none		0.438	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		G	127768258	A	G	127768258	2	3	21	1	0	0	0	0	0	0	0	1	8174	330	12	2		2	KIAA0408	6	127768258	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	291673	127768258	43346809	95	4969										
C7orf28B	221960	hgsc.bcm.edu	37	chr7	6862967	6862967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtacatgctgtagcactgccGcagcaccgagctataaacct	9	13	0	0	rs140768534		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:6862967G>A	ENST00000316731.8	-	5	987	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	CCZ1B_ENST00000538180.1_5'UTR	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	139						lysosome (GO:0005764)|membrane (GO:0016020)											TAGCACTGCCGCAGCACCGAG	0.483																																					p.R139W		Atlas-SNP	.											C7orf28B,NS,carcinoma,+2,1	.	.	1	0			c.C415T						scavenged	.	G	TRP/ARG	0,4388		0,0,2194	91	80	84		415	2.7	0.8	7	dbSNP_134	84	3,8591		0,3,4294	no	missense	C7orf28B	NM_198097.3	101	0,3,6488	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	139/483	6862967	3,12979	2194	4297	6491	SO:0001583	missense	221960	exon5			ACTGCCGCAGCAC	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.415C>T	7.37:g.6862967G>A	ENSP00000314544:p.Arg139Trp	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	254	3	0.011811	NM_198097	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.935600	0.34189	0.0	3.49E-4	ENSG00000146574	ENST00000316731	.	.	.	2.72	2.72	0.32119	.	0.189607	0.48286	D	0.000189	T	0.65903	0.2736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69680	-0.5080	6	0.62326	D	0.03	-10.9426	11.2352	0.48936	0.0:0.0:1.0:0.0	.	.	.	.	W	139	.	ENSP00000314544:R139W	R	-	1	2	C7orf28B	6829492	1.000000	0.71417	0.783000	0.31826	0.026000	0.11368	5.305000	0.65750	1.521000	0.48983	0.194000	0.17425	CGG	G|1.000;A|0.000	0.000	weak		0.483	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		A	6862967	G	A	6862967	3	1	21	1	0	0	0	0	1	0	0	0	2384	1086	38	1	1077	1	C7orf28B	7	6862967	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		6862967	152275696	96	4970										
WIPF3	644150	hgsc.bcm.edu	37	chr7	29923921	29923921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tccctctgctcccaccttgtGggtatccggggctcaaagcg	11	15	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:29923921G>A	ENST00000409290.1	+	4	811	c.811G>A	c.(811-813)Ggg>Agg	p.G271R	WIPF3_ENST00000409123.1_Missense_Mutation_p.G271R|WIPF3_ENST00000242140.5_Missense_Mutation_p.G271R	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	271					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCACCTTGTGGGTATCCGGG	0.706																																					p.G271R		Atlas-SNP	.											WIPF3_ENST00000409123,NS,carcinoma,0,2	WIPF3	46	2	0			c.G811A						scavenged	.						2	3	2					7																	29923921		1448	3435	4883	SO:0001583	missense	644150	exon5			CCTTGTGGGTATC	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.811G>A	7.37:g.29923921G>A	ENSP00000386878:p.Gly271Arg	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	4	0.0344828	NM_001080529	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	G	2.271	-0.367037	0.05069	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.42900	0.96;0.96;0.96	4.26	3.38	0.38709	.	0.270973	0.26003	N	0.026938	T	0.32912	0.0845	L	0.42245	1.32	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.25606	-1.0127	10	0.51188	T	0.08	.	8.3964	0.32559	0.1131:0.0:0.8869:0.0	.	271	A6NGB9	WIPF3_HUMAN	R	271	ENSP00000386790:G271R;ENSP00000386878:G271R;ENSP00000242140:G271R	ENSP00000242140:G271R	G	+	1	0	WIPF3	29890446	0.997000	0.39634	0.002000	0.10522	0.001000	0.01503	3.323000	0.52014	0.901000	0.36495	-0.275000	0.10095	GGG	.	.	none		0.706	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			A	29923921	G	A	29923921	3	1	21	1	0	0	0	0	1	0	0	0	17366	1348	47	2	825	2	WIPF3	7	29923921	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	23060954	29923921	129214742	97	4971										
AVL9	23080	hgsc.bcm.edu	37	chr7	32620454	32620454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtggcaaaaaaattggaaacGtcatggtcacaactagccgg	11	8	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:32620454G>A	ENST00000318709.4	+	15	2004	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	AVL9_ENST00000409301.1_Missense_Mutation_p.V577I|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	595					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATTGGAAACGTCATGGTCAC	0.368																																					p.V595I		Atlas-SNP	.											.	AVL9	66	.	0			c.G1783A						PASS	.						92	86	88					7																	32620454		2203	4300	6503	SO:0001583	missense	23080	exon15			GGAAACGTCATGG	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1783G>A	7.37:g.32620454G>A	ENSP00000315568:p.Val595Ile	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	178	33	0.185393	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390565	0.82902	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714	T;T	0.45276	0.96;0.9	5.89	5.89	0.94794	.	0.126361	0.52532	D	0.000065	T	0.32496	0.0831	L	0.29908	0.895	0.80722	D	1	P	0.36733	0.567	B	0.21708	0.036	T	0.22312	-1.0220	10	0.87932	D	0	-15.1738	20.2617	0.98447	0.0:0.0:1.0:0.0	.	595	Q8NBF6	AVL9_HUMAN	I	595;577;537	ENSP00000315568:V595I;ENSP00000387011:V577I	ENSP00000315568:V595I	V	+	1	0	AVL9	32586979	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.202000	0.95026	2.793000	0.96121	0.655000	0.94253	GTC	.	.	none		0.368	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		A	32620454	G	A	32620454	3	1	21	1	0	0	0	0	1	0	0	0	1228	1145	40	1	1841	1	AVL9	7	32620454	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	2696533	32620454	126518209	98	4972										
TNS3	64759	hgsc.bcm.edu	37	chr7	47408879	47408879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cctgggctggcaccacgtggCgggtcccactgtacttgctt	13	14	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:47408879C>T	ENST00000398879.1	-	17	1730	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	TNS3_ENST00000311160.9_Missense_Mutation_p.R455H|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	455					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCACGTGGCGGGTCCCACT	0.577																																					p.R455H		Atlas-SNP	.											TNS3,NS,carcinoma,0,1	TNS3	140	1	0			c.G1364A						scavenged	.						69	74	72					7																	47408879		2136	4244	6380	SO:0001583	missense	64759	exon17			ACGTGGCGGGTCC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1364G>A	7.37:g.47408879C>T	ENSP00000381854:p.Arg455His	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	171	5	0.0292398	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903077	0.33628	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;D	0.95412	2.03;2.03;2.03;-3.7	5.45	5.45	0.79879	.	0.254913	0.30620	N	0.009228	D	0.93226	0.7842	M	0.66939	2.045	0.80722	D	1	B	0.18968	0.032	B	0.12156	0.007	D	0.89095	0.3485	10	0.30854	T	0.27	-39.2609	10.244	0.43330	0.0:0.9093:0.0:0.0907	.	455	Q68CZ2	TENS3_HUMAN	H	455;565;455;558;544	ENSP00000312143:R455H;ENSP00000381854:R455H;ENSP00000414358:R558H;ENSP00000396914:R544H	ENSP00000312143:R455H	R	-	2	0	TNS3	47375404	1.000000	0.71417	0.936000	0.37596	0.115000	0.19883	1.383000	0.34385	2.544000	0.85801	0.655000	0.94253	CGC	.	.	none		0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47408879	C	T	47408879	3	4	21	1	0	0	0	0	1	0	0	0	16341	768	27	1	3033	1	TNS3	7	47408879	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	14788425	47408879	111729784	99	4973										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48314642	48314642	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	accaaggaagacttcgcaatTgtgataaaaattcttttgga	8	6	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:48314642T>A	ENST00000435803.1	+	17	5403	c.5379T>A	c.(5377-5379)atT>atA	p.I1793I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1793					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						ACTTCGCAATTGTGATAAAAA	0.378																																					p.I1793I		Atlas-SNP	.											.	ABCA13	1192	.	0			c.T5379A						PASS	.						43	41	41					7																	48314642		1844	4104	5948	SO:0001819	synonymous_variant	154664	exon17			CGCAATTGTGATA	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.5379T>A	7.37:g.48314642T>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	157	44	0.280255	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.	.	none		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48314642	T	A	48314642	2	1	21	1	0	0	0	0	0	0	0	1	31	1800	63	5		5	ABCA13	7	48314642	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10	905763	48314642	110824021	100	4974										
EGFR	1956	hgsc.bcm.edu	37	chr7	55214404	55214404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgactttctcagcaacatgtCgatggacttccagaaccacc	7	13	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:55214404C>T	ENST00000275493.2	+	4	707	c.530C>T	c.(529-531)tCg>tTg	p.S177L	EGFR_ENST00000442591.1_Missense_Mutation_p.S177L|EGFR_ENST00000342916.3_Missense_Mutation_p.S177L|EGFR_ENST00000454757.2_Missense_Mutation_p.S124L|EGFR_ENST00000344576.2_Missense_Mutation_p.S177L|EGFR_ENST00000420316.2_Missense_Mutation_p.S177L|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	177			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCAACATGTCGATGGACTTC	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.S177L		Atlas-SNP	.	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	.	EGFR	20426	.	0			c.C530T						PASS	.						128	101	110					7																	55214404		2203	4300	6503	SO:0001583	missense	1956	exon4	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ACATGTCGATGGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.530C>T	7.37:g.55214404C>T	ENSP00000275493:p.Ser177Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	69	16	0.231884	NM_201283	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191545	0.38707	.	.	ENSG00000146648	ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;T;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.06;-1.53	5.6	5.6	0.85130	.	0.578375	0.18102	N	0.151642	T	0.78110	0.4232	L	0.51422	1.61	0.37607	D	0.920783	B;B;B;B	0.17038	0.003;0.02;0.012;0.007	B;B;B;B	0.14023	0.006;0.01;0.007;0.002	T	0.75637	-0.3249	10	0.51188	T	0.08	.	17.1089	0.86670	0.0:1.0:0.0:0.0	.	177;177;177;177	P00533;P00533-3;P00533-4;P00533-2	EGFR_HUMAN;.;.;.	L	177;47;177;177;177;177;124;124	ENSP00000342376:S177L;ENSP00000345973:S177L;ENSP00000413843:S177L;ENSP00000275493:S177L;ENSP00000410031:S177L;ENSP00000413354:S124L;ENSP00000395243:S124L	ENSP00000275493:S177L	S	+	2	0	EGFR	55181898	0.008000	0.16893	0.978000	0.43139	0.094000	0.18550	1.093000	0.30939	2.630000	0.89119	0.655000	0.94253	TCG	.	.	none		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55214404	C	T	55214404	3	4	21	1	0	0	0	0	1	0	0	0	4967	893	31	1	544	1	EGFR	7	55214404	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	6899762	55214404	103924259	101	4975										
TYW1	55253	hgsc.bcm.edu	37	chr7	66514943	66514943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tattttaatgcagagagaaaAggaacagcaggaagagaagt	12	3	0	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:66514943A>G	ENST00000359626.5	+	8	1156	c.992A>G	c.(991-993)aAg>aGg	p.K331R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	331					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.K331R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGAGAGAAAAGGAACAGCAG	0.388																																					p.K331R		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - Missense(1)	kidney(1)	c.A992G						scavenged	.						49	49	49					7																	66514943		2203	4300	6503	SO:0001583	missense	55253	exon8			GAGAAAAGGAACA	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.992A>G	7.37:g.66514943A>G	ENSP00000352645:p.Lys331Arg	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	177	3	0.0169492	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	A	4.761	0.141495	0.09083	.	.	ENSG00000198874	ENST00000359626	T	0.17528	2.27	3.92	2.78	0.32641	.	1.456190	0.04063	U	0.306751	T	0.14917	0.0360	L	0.39633	1.23	0.28888	N	0.893985	B	0.06786	0.001	B	0.09377	0.004	T	0.28586	-1.0039	10	0.14252	T	0.57	.	7.2253	0.26012	0.8868:0.0:0.1131:0.0	.	331	Q9NV66	TYW1_HUMAN	R	331	ENSP00000352645:K331R	ENSP00000352645:K331R	K	+	2	0	TYW1	66152378	0.924000	0.31332	1.000000	0.80357	0.974000	0.67602	0.303000	0.19210	1.774000	0.52232	0.460000	0.39030	AAG	.	.	none		0.388	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		G	66514943	A	G	66514943	3	3	21	1	0	0	0	0	1	0	0	0	16815	72	3	3	1022	3	TYW1	7	66514943	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	11300539	66514943	92623720	102	4976										
BAZ1B	9031	hgsc.bcm.edu	37	chr7	72912836	72912836	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atcaaacatactaatactctCtctccttccttcatcctctt	0	15	5	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:72912836C>T	ENST00000339594.4	-	4	900	c.562G>A	c.(562-564)Gag>Aag	p.E188K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E188K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	188	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTAATACTCTCTCTCCTTCCT	0.378																																					p.E188K	Esophageal Squamous(112;1167 1561 21085 43672 48228)	Atlas-SNP	.											BAZ1B,NS,haematopoietic_neoplasm,0,1	BAZ1B	147	1	0			c.G562A						scavenged	.						220	206	211					7																	72912836		2203	4300	6503	SO:0001583	missense	9031	exon4			TACTCTCTCTCCT	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.562G>A	7.37:g.72912836C>T	ENSP00000342434:p.Glu188Lys	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	195	3	0.0153846	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475660	0.63737	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58652	0.32;0.32	5.35	5.35	0.76521	.	0.057135	0.64402	D	0.000002	T	0.41971	0.1182	L	0.29908	0.895	0.52099	D	0.99994	B	0.31318	0.319	B	0.24155	0.051	T	0.30995	-0.9959	10	0.23302	T	0.38	-25.3178	12.704	0.57049	0.1648:0.8352:0.0:0.0	.	188	Q9UIG0	BAZ1B_HUMAN	K	188	ENSP00000342434:E188K;ENSP00000385442:E188K	ENSP00000342434:E188K	E	-	1	0	BAZ1B	72550772	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.253000	0.78320	2.493000	0.84123	0.563000	0.77884	GAG	.	.	none		0.378	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		T	72912836	C	T	72912836	3	4	21	1	0	0	0	0	1	0	0	0	1330	922	32	2	3953	2	BAZ1B	7	72912836	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	6397893	72912836	86225827	103	4977										
RELN	5649	hgsc.bcm.edu	37	chr7	103236931	103236931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gctgaagtctgaaaagtacaTctctgctagcaggtgccact	10	10	2	2	rs374443790		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:103236931T>G	ENST00000428762.1	-	25	3670	c.3511A>C	c.(3511-3513)Atg>Ctg	p.M1171L	RELN_ENST00000343529.5_Missense_Mutation_p.M1171L|RELN_ENST00000424685.2_Missense_Mutation_p.M1171L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1171					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGTACATCTCTGCTAGC	0.493																																					p.M1171L	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.A3511C						PASS	.						183	167	172					7																	103236931		2203	4300	6503	SO:0001583	missense	5649	exon25			AGTACATCTCTGC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3511A>C	7.37:g.103236931T>G	ENSP00000392423:p.Met1171Leu	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	187	46	0.245989	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419022	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.37752	2.09;1.18;2.09	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	N	0.19112	0.55	0.44771	D	0.997776	P;B	0.35468	0.503;0.272	B;B	0.35931	0.214;0.032	T	0.06698	-1.0812	10	0.13470	T	0.59	.	16.1652	0.81750	0.0:0.0:0.0:1.0	.	1171;1171	P78509-2;P78509	.;RELN_HUMAN	L	1171	ENSP00000392423:M1171L;ENSP00000345694:M1171L;ENSP00000388446:M1171L	ENSP00000345694:M1171L	M	-	1	0	RELN	103024167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.653000	0.67967	2.230000	0.72887	0.528000	0.53228	ATG	.	.	alt		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103236931	T	G	103236931	3	3	21	1	0	0	0	0	1	0	0	0	13220	1435	50	5	7035	5	RELN	7	103236931	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	30324095	103236931	55901732	104	4978										
GCC1	79571	hgsc.bcm.edu	37	chr7	127223206	127223206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccaggtccagctgcagaatgCgctccttcagcttctgaatg	10	13	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:127223206C>T	ENST00000321407.2	-	2	1614	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	397					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R397H(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGAATGCGCTCCTTCAG	0.552																																					p.R397H		Atlas-SNP	.											GCC1,NS,carcinoma,0,1	GCC1	83	1	1	Substitution - Missense(1)	endometrium(1)	c.G1190A						scavenged	.						86	82	83					7																	127223206		2203	4300	6503	SO:0001583	missense	79571	exon2			AGAATGCGCTCCT	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1190G>A	7.37:g.127223206C>T	ENSP00000318821:p.Arg397His	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	168	2	0.0119048	NM_024523	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174307	0.78452	.	.	ENSG00000179562	ENST00000321407	T	0.15718	2.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02320	-1.1177	10	0.33940	T	0.23	-4.4506	16.3635	0.83296	0.0:1.0:0.0:0.0	.	397	Q96CN9	GCC1_HUMAN	H	397	ENSP00000318821:R397H	ENSP00000318821:R397H	R	-	2	0	GCC1	127010442	1.000000	0.71417	0.991000	0.47740	0.823000	0.46562	5.556000	0.67307	2.525000	0.85131	0.655000	0.94253	CGC	.	.	none		0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		T	127223206	C	T	127223206	3	4	21	1	0	0	0	0	1	0	0	0	6285	768	27	1	1141	1	GCC1	7	127223206	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	23986275	127223206	31915457	105	4979										
ARHGEF5	7984	hgsc.bcm.edu	37	chr7	144062632	144062632	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	taaggatgaagcaggggtctCagaacaccctgaggcccctg	13	11	1	3	rs202036368		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:144062632C>G	ENST00000056217.5	+	2	3044	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	957					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCAGGGGTCTCAGAACACCCT	0.597																																					p.S957X		Atlas-SNP	.											ARHGEF5,NS,carcinoma,0,1	ARHGEF5	73	1	0			c.C2870G						scavenged	.						2	2	2					7																	144062632		723	1763	2486	SO:0001587	stop_gained	7984	exon2			GGGTCTCAGAACA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2870C>G	7.37:g.144062632C>G	ENSP00000056217:p.Ser957*	Somatic	217	44	0.202765		WXS	Illumina HiSeq	Phase_I	146	34	0.232877	NM_005435	A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.577225|6.577225	0.97676|0.97676	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|.	.|.	.|.	4.06|4.06	2.22|2.22	0.28083|0.28083	.|.	.|0.258318	.|0.20430	.|N	.|0.092497	T|.	0.37237|.	0.0996|.	.|.	.|.	.|.	0.21020|0.21020	N|N	0.99981|0.99981	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20940|.	-1.0260|.	4|.	.|0.48119	.|T	.|0.1	-0.0888|-0.0888	6.3968|6.3968	0.21616|0.21616	0.0:0.7685:0.0:0.2315|0.0:0.7685:0.0:0.2315	.|.	.|.	.|.	.|.	E|X	211|957	.|.	.|ENSP00000056217:S957X	Q|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693565|143693565	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.795000|0.795000	0.26972|0.26972	0.369000|0.369000	0.24510|0.24510	0.555000|0.555000	0.69702|0.69702	CAG|TCA	.	.	weak		0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144062632	C	G	144062632	4	3	21	1	0	0	0	0	0	1	0	0	909	838	29	4	2872	4	ARHGEF5	7	144062632	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	16839426	144062632	15076031	106	4980										
EZH2	2146	hgsc.bcm.edu	37	chr7	148507460	148507460	+	Missense_Mutation	SNP	T	T	C													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acagaaagctgcacatgtatTtatcatacactttccctctt							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:148507460T>C	ENST00000460911.1	-	17	2067	c.1979A>G	c.(1978-1980)aAa>aGa	p.K660R	EZH2_ENST00000320356.2_Missense_Mutation_p.K665R|EZH2_ENST00000541220.1_Missense_Mutation_p.K609R|EZH2_ENST00000350995.2_Missense_Mutation_p.K621R|EZH2_ENST00000478654.1_Missense_Mutation_p.K609R|EZH2_ENST00000476773.1_Missense_Mutation_p.K609R|EZH2_ENST00000483967.1_Missense_Mutation_p.K651R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	660	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K665_Y666del(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GCACATGTATTTATCATACAC	0.428			Mis		DLBCL																																p.K665R		Atlas-SNP	.		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1994G						PASS	.						110	91	98					7																	148507460		2202	4300	6502	SO:0001583	missense	2146	exon17			ATGTATTTATCAT		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1979A>G	7.37:g.148507460T>C	ENSP00000419711:p.Lys660Arg	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	22	0.360656	NM_004456	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	29.6	5.021682	0.93462	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.81247	-1.47;-1.32;-1.32;-1.32;-1.47;-1.47;-1.32	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.39566	1.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.994	T	0.81705	-0.0811	10	0.21014	T	0.42	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	651;609;660;621;665	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	609;665;660;621;609;609;651	ENSP00000417062:K609R;ENSP00000320147:K665R;ENSP00000419711:K660R;ENSP00000223193:K621R;ENSP00000443219:K609R;ENSP00000419050:K609R;ENSP00000419856:K651R	ENSP00000320147:K665R	K	-	2	0	EZH2	148138393	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.789000	0.85783	2.064000	0.61679	0.533000	0.62120	AAA	.	.	none		0.428	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		C	148507460	T	C	148507460	3	2	21	1	0	0	0	0	1	0	0	0	5334	1841	64	2	277	2	EZH2	7	148507460	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	4444828	148507460	10631203	107	4981	97	2								
EZH2	2146	hgsc.bcm.edu	37	chr7	148507461	148507461	+	Missense_Mutation	SNP	T	T	C													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cagaaagctgcacatgtattTatcatacactttccctcttc							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:148507461T>C	ENST00000460911.1	-	17	2066	c.1978A>G	c.(1978-1980)Aaa>Gaa	p.K660E	EZH2_ENST00000320356.2_Missense_Mutation_p.K665E|EZH2_ENST00000541220.1_Missense_Mutation_p.K609E|EZH2_ENST00000350995.2_Missense_Mutation_p.K621E|EZH2_ENST00000478654.1_Missense_Mutation_p.K609E|EZH2_ENST00000476773.1_Missense_Mutation_p.K609E|EZH2_ENST00000483967.1_Missense_Mutation_p.K651E			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	660	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K665_Y666del(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CACATGTATTTATCATACACT	0.428			Mis		DLBCL																																p.K665E		Atlas-SNP	.		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1993G						PASS	.						109	91	97					7																	148507461		2202	4300	6502	SO:0001583	missense	2146	exon17			TGTATTTATCATA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1978A>G	7.37:g.148507461T>C	ENSP00000419711:p.Lys660Glu	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	63	23	0.365079	NM_004456	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	29.7	5.031157	0.93575	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81659	-1.52;-1.32;-1.32;-1.32;-1.52;-1.52;-1.32	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	L	0.46567	1.45	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.994	D	0.86978	0.2102	10	0.52906	T	0.07	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	651;609;660;621;665	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	E	609;665;660;621;609;609;651	ENSP00000417062:K609E;ENSP00000320147:K665E;ENSP00000419711:K660E;ENSP00000223193:K621E;ENSP00000443219:K609E;ENSP00000419050:K609E;ENSP00000419856:K651E	ENSP00000320147:K665E	K	-	1	0	EZH2	148138394	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.789000	0.85783	2.064000	0.61679	0.533000	0.62120	AAA	.	.	none		0.428	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		C	148507461	T	C	148507461	3	2	21	1	0	0	0	0	1	0	0	0	5334	1763	61	2	278	2	EZH2	7	148507461	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	1	148507461	10631202	108	4982	97	2								
EZH2	2146	hgsc.bcm.edu	37	chr7	148508727	148508727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agtgccttacctctccacagTattctgagatgaattcattt	6	10	3	2	rs267601394		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:148508727T>A	ENST00000460911.1	-	16	2010	c.1922A>T	c.(1921-1923)tAc>tTc	p.Y641F	EZH2_ENST00000320356.2_Missense_Mutation_p.Y646F|EZH2_ENST00000541220.1_Missense_Mutation_p.Y590F|EZH2_ENST00000350995.2_Missense_Mutation_p.Y602F|EZH2_ENST00000478654.1_Missense_Mutation_p.Y590F|EZH2_ENST00000476773.1_Missense_Mutation_p.Y590F|EZH2_ENST00000483967.1_Missense_Mutation_p.Y632F			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	641	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		Y -> C (in a patient with diffuse large B-cell lymphoma; somatic mutation). {ECO:0000269|PubMed:20081860}.|Y -> F (found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation). {ECO:0000269|PubMed:20081860}.|Y -> H (found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation). {ECO:0000269|PubMed:20081860}.|Y -> N (found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation). {ECO:0000269|PubMed:20081860}.|Y -> S (found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation). {ECO:0000269|PubMed:20081860}.		cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.Y646F(59)|p.Y646S(22)|p.Y602F(8)|p.Y646C(6)|p.Y602S(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTCTCCACAGTATTCTGAGAT	0.378			Mis		DLBCL																																p.Y646F		Atlas-SNP	.		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	EZH2_ENST00000350995,face,carcinoma,-1,214	EZH2	823	214	99	Substitution - Missense(99)	haematopoietic_and_lymphoid_tissue(99)	c.A1937T						PASS	.						96	89	91					7																	148508727		2203	4300	6503	SO:0001583	missense	2146	exon16			CCACAGTATTCTG		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1922A>T	7.37:g.148508727T>A	ENSP00000419711:p.Tyr641Phe	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	36	14	0.388889	NM_004456	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	28.3	4.907221	0.92107	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.92965	-3.14;-1.9;-1.9;-1.9;-3.14;-3.14;-1.9	5.63	5.63	0.86233	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96990	0.9017	M	0.93328	3.405	0.80722	D	1	D;D;D;D;P	0.76494	0.999;0.997;0.964;0.999;0.817	D;D;D;D;B	0.71656	0.974;0.956;0.912;0.974;0.367	D	0.98006	1.0363	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	632;590;641;602;646	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	F	590;646;641;602;590;590;632	ENSP00000417062:Y590F;ENSP00000320147:Y646F;ENSP00000419711:Y641F;ENSP00000223193:Y602F;ENSP00000443219:Y590F;ENSP00000419050:Y590F;ENSP00000419856:Y632F	ENSP00000320147:Y646F	Y	-	2	0	EZH2	148139660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.789000	0.85783	2.145000	0.66743	0.533000	0.62120	TAC	.	.	none		0.378	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		A	148508727	T	A	148508727	3	1	21	1	0	0	0	0	1	0	0	0	5334	1638	57	5	338	5	EZH2	7	148508727	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	1266	148508727	10629936	109	4983										
EZH2	2146	hgsc.bcm.edu	37	chr7	148523590	148523590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agcagtcatatttaaaacatCgcctacagaaaagcgtatga	7	8	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:148523590C>T	ENST00000460911.1	-	8	951	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	EZH2_ENST00000320356.2_Missense_Mutation_p.R288Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R279Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R249Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R279Q|EZH2_ENST00000536783.1_Missense_Mutation_p.R179Q|EZH2_ENST00000476773.1_Missense_Mutation_p.R279Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R279Q			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	288	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R288Q(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTAAAACATCGCCTACAGAA	0.383			Mis		DLBCL																																p.R288Q		Atlas-SNP	.		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	EZH2_ENST00000350995,rectum,carcinoma,+1,8	EZH2	823	8	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.G863A						scavenged	.						151	126	134					7																	148523590		2203	4300	6503	SO:0001583	missense	2146	exon8			AAACATCGCCTAC		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.863G>A	7.37:g.148523590C>T	ENSP00000419711:p.Arg288Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	87	2	0.0229885	NM_001203247	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.033756	0.93575	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	M	0.86420	2.815	0.80722	D	1	D;D;D;P;D;P	0.67145	0.992;0.986;0.986;0.893;0.996;0.653	P;P;P;P;D;B	0.64595	0.571;0.902;0.902;0.525;0.927;0.306	D	0.95514	0.8588	10	0.87932	D	0	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	288;279;279;288;249;288	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Q	279;288;288;249;279;279;279;179	ENSP00000417062:R279Q;ENSP00000320147:R288Q;ENSP00000419711:R288Q;ENSP00000223193:R249Q;ENSP00000443219:R279Q;ENSP00000419050:R279Q;ENSP00000419856:R279Q;ENSP00000439305:R179Q	ENSP00000320147:R288Q	R	-	2	0	EZH2	148154523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.582000	0.87167	0.591000	0.81541	CGA	.	.	none		0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		T	148523590	C	T	148523590	3	4	21	1	0	0	0	0	1	0	0	0	5334	884	31	1	1444	1	EZH2	7	148523590	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	14863	148523590	10615073	110	4984										
ACCN3	9311	hgsc.bcm.edu	37	chr7	150746203	150746203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	caccaccagactgccctggaTgagcgagaaagccaccggct	11	15	0	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:150746203T>G	ENST00000349064.5	+	1	429	c.231T>G	c.(229-231)gaT>gaG	p.D77E	ASIC3_ENST00000357922.4_Missense_Mutation_p.D77E|ASIC3_ENST00000297512.8_Missense_Mutation_p.D77E	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	77					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CTGCCCTGGATGAGCGAGAAA	0.642																																					p.D77E		Atlas-SNP	.											.	.	.	.	0			c.T231G						PASS	.						112	89	97					7																	150746203		2203	4300	6503	SO:0001583	missense	9311	exon1			CCTGGATGAGCGA	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.231T>G	7.37:g.150746203T>G	ENSP00000344838:p.Asp77Glu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	36	15	0.416667	NM_020322	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985752	0.53934	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64085	-0.08;-0.08;-0.08	5.11	-4.68	0.03309	.	0.214262	0.21995	N	0.066087	T	0.45756	0.1358	L	0.49513	1.565	0.22648	N	0.998896	B;B;B	0.22604	0.072;0.003;0.01	B;B;B	0.25291	0.059;0.003;0.047	T	0.35301	-0.9794	10	0.20519	T	0.43	-12.6316	7.4624	0.27302	0.0:0.2523:0.2205:0.5272	.	77;77;77	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	E	77	ENSP00000350600:D77E;ENSP00000344838:D77E;ENSP00000297512:D77E	ENSP00000297512:D77E	D	+	3	2	ACCN3	150377136	0.001000	0.12720	0.892000	0.35008	0.965000	0.64279	-1.636000	0.02016	-0.937000	0.03719	-0.441000	0.05720	GAT	.	.	none		0.642	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		G	150746203	T	G	150746203	3	3	21	1	0	0	0	0	1	0	0	0	130	1461	51	5	233	5	ACCN3	7	150746203	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	2222613	150746203	8392460	111	4985										
MLL3	58508	hgsc.bcm.edu	37	chr7	151970845	151970845	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agcaggaagatgtgactgaaAtcctgaaaggtgccggctcc	13	9	0	4			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:151970845A>T	ENST00000262189.6	-	7	1175	c.957T>A	c.(955-957)gaT>gaA	p.D319E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D319E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	319					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTGACTGAAATCCTGAAAGG	0.413																																					p.D319E		Atlas-SNP	.											MLL3_ENST00000355193,NS,carcinoma,-1,2	MLL3	1564	2	0			c.T957A						PASS	.						260	243	249					7																	151970845		2203	4300	6503	SO:0001583	missense	58508	exon7			ACTGAAATCCTGA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.957T>A	7.37:g.151970845A>T	ENSP00000262189:p.Asp319Glu	Somatic	704	0	0		WXS	Illumina HiSeq	Phase_I	404	21	0.0519802	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474094	0.63737	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.69175	-0.38;-0.38	4.87	-3.2	0.05156	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.44902	U	0.000409	T	0.68787	0.3039	L	0.43598	1.365	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.65384	-0.6181	10	0.23302	T	0.38	.	12.0041	0.53248	0.8755:0.0:0.1245:0.0	.	319	Q8NEZ4	MLL3_HUMAN	E	319	ENSP00000262189:D319E;ENSP00000347325:D319E	ENSP00000262189:D319E	D	-	3	2	MLL3	151601778	1.000000	0.71417	0.830000	0.32933	0.993000	0.82548	1.285000	0.33261	-0.549000	0.06191	0.528000	0.53228	GAT	.	.	none		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151970845	A	T	151970845	3	4	21	1	0	0	0	0	1	0	0	0	9622	98	4	5	13990	5	MLL3	7	151970845	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	1224642	151970845	7167818	112	4986										
SHH	6469	hgsc.bcm.edu	37	chr7	155599176	155599176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gccatcttcgtcccagccctCggtcacccgcagtttcactc	7	19	3	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr7:155599176C>T	ENST00000297261.2	-	2	526	c.376G>A	c.(376-378)Gag>Aag	p.E126K	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	126					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCAGCCCTCGGTCACCCGC	0.612																																					p.E126K		Atlas-SNP	.											.	SHH	34	.	0			c.G376A						PASS	.						105	77	87					7																	155599176		2203	4300	6503	SO:0001583	missense	6469	exon2			AGCCCTCGGTCAC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.376G>A	7.37:g.155599176C>T	ENSP00000297261:p.Glu126Lys	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_000193	A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149394	0.94645	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99578	-6.21;-6.21	3.55	3.55	0.40652	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.97386	0.9986	10	0.87932	D	0	.	15.6723	0.77289	0.0:1.0:0.0:0.0	.	126;129;39	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	K	126;39	ENSP00000297261:E126K;ENSP00000396621:E39K	ENSP00000297261:E126K	E	-	1	0	SHH	155291937	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.409000	0.80053	1.967000	0.57214	0.561000	0.74099	GAG	.	.	none		0.612	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		T	155599176	C	T	155599176	3	4	21	1	0	0	0	0	1	0	0	0	14279	893	31	1	1020	1	SHH	7	155599176	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	3628331	155599176	3539487	113	4987										
DLGAP2	9228	hgsc.bcm.edu	37	chr8	1497731	1497731	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtacctgaagcgcagctcctGgtctacgctgacggtcagcc	12	14	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:1497731G>A	ENST00000421627.2	+	2	1006	c.872G>A	c.(871-873)tGg>tAg	p.W291*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	370					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGCAGCTCCTGGTCTACGCTG	0.647																																					p.W291X		Atlas-SNP	.											.	DLGAP2	292	.	0			c.G872A						PASS	.						18	21	20					8																	1497731		2180	4277	6457	SO:0001587	stop_gained	9228	exon2			GCTCCTGGTCTAC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.872G>A	8.37:g.1497731G>A	ENSP00000400258:p.Trp291*	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Nonsense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.817673|7.817673	0.98507|0.98507	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46852|.	0.1414|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39418|.	-0.9615|.	3|.	.|0.02654	.|T	.|1	-10.1825|-10.1825	18.9482|18.9482	0.92630|0.92630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	308|336;291	.|.	.|ENSP00000348366:W336X	G|W	+|+	1|2	0|0	DLGAP2|DLGAP2	1485138|1485138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.917000|8.917000	0.92751|0.92751	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	GGT|TGG	.	.	none		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1497731	G	A	1497731	4	1	21	1	0	0	0	0	0	1	0	0	4560	1357	47	2	874	2	DLGAP2	8	1497731	Nonsense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		1497731	144866291	114	4988										
CSMD1	64478	hgsc.bcm.edu	37	chr8	4494914	4494914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccatcgtaaactgataaaatAtcaaaatcttcttcaagagc	4	9	4	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:4494914A>G	ENST00000520002.1	-	2	807	c.252T>C	c.(250-252)gaT>gaC	p.D84D	CSMD1_ENST00000602557.1_Silent_p.D84D|CSMD1_ENST00000537824.1_Silent_p.D84D|CSMD1_ENST00000602723.1_Silent_p.D84D|CSMD1_ENST00000539096.1_Silent_p.D84D|CSMD1_ENST00000400186.3_Silent_p.D84D|CSMD1_ENST00000542608.1_Silent_p.D84D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	84	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGATAAAATATCAAAATCTT	0.398																																					p.D84D		Atlas-SNP	.											.	CSMD1	1469	.	0			c.T252C						PASS	.						121	121	121					8																	4494914		1894	4130	6024	SO:0001819	synonymous_variant	64478	exon2			TAAAATATCAAAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.252T>C	8.37:g.4494914A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37																																																																																				.	.	none		0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	4494914	A	G	4494914	2	3	21	1	0	0	0	0	0	0	0	1	3944	446	16	2		2	CSMD1	8	4494914	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	2997183	4494914	141869108	115	4989										
CSMD1	64478	hgsc.bcm.edu	37	chr8	4494939	4494939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aatcttcttcaagagcaaagGtatggaaggacaactgtatc	9	7	3	1	rs562417147		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:4494939G>T	ENST00000520002.1	-	2	782	c.227C>A	c.(226-228)aCc>aAc	p.T76N	CSMD1_ENST00000602557.1_Missense_Mutation_p.T76N|CSMD1_ENST00000537824.1_Missense_Mutation_p.T76N|CSMD1_ENST00000602723.1_Missense_Mutation_p.T76N|CSMD1_ENST00000539096.1_Missense_Mutation_p.T76N|CSMD1_ENST00000400186.3_Missense_Mutation_p.T76N|CSMD1_ENST00000542608.1_Missense_Mutation_p.T76N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	76	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGAGCAAAGGTATGGAAGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		14473	0.001		0.0	False		,,,				2504	0.0				p.T76N		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C227A						PASS	.						132	131	131					8																	4494939		1923	4156	6079	SO:0001583	missense	64478	exon2			GCAAAGGTATGGA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.227C>A	8.37:g.4494939G>T	ENSP00000430733:p.Thr76Asn	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	78	39	0.5	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	14.03	2.413876	0.42817	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.12	5.12	0.69794	.	.	.	.	.	T	0.13286	0.0322	N	0.12569	0.235	0.29907	N	0.823931	P	0.34587	0.458	B	0.43052	0.406	T	0.14309	-1.0477	9	0.26408	T	0.33	.	9.6543	0.39917	0.0954:0.0:0.9046:0.0	.	76	E5RIG2	.	N	76	ENSP00000383047:T76N;ENSP00000430733:T76N;ENSP00000441462:T76N;ENSP00000446243:T76N;ENSP00000441675:T76N	ENSP00000383047:T76N	T	-	2	0	CSMD1	4482347	1.000000	0.71417	0.951000	0.38953	0.965000	0.64279	5.671000	0.68095	2.401000	0.81631	0.585000	0.79938	ACC	.	.	none		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	4494939	G	T	4494939	3	4	21	1	0	0	0	0	1	0	0	0	3944	1261	44	4	10556	4	CSMD1	8	4494939	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	25	4494939	141869083	116	4990										
DEFA1	1668	hgsc.bcm.edu	37	chr8	6873603	6873603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctggtattctgcaatagcagTccatgtttttccttgagcct	8	10	1	1	rs145076681		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																					p.D65A		Atlas-SNP	.											DEFA3,NS,carcinoma,0,1	DEFA3	7	1	1	Substitution - Missense(1)	prostate(1)	c.A194C						scavenged	.						156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668	exon3			TAGCAGTCCATGT	M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala	Somatic	689	28	0.0406386		WXS	Illumina HiSeq	Phase_I	427	15	0.0351288	NM_005217	P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC	T|0.167;G|0.833	0.833	strong		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	21	1	0	0	0	0	1	0	0	0	4388	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	2378664	6873603	139490419	117	4991										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22464810	22464810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cagttgatcttccagcctcaCcggattcccccactctttcc	5	18	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:22464810C>T	ENST00000308511.4	+	6	708	c.459C>T	c.(457-459)caC>caT	p.H153H	CCAR2_ENST00000520861.1_5'UTR|CCAR2_ENST00000389279.3_Silent_p.H153H			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	153					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCAGCCTCACCGGATTCCCC	0.547																																					p.H153H		Atlas-SNP	.											KIAA1967,NS,carcinoma,+2,1	KIAA1967	72	1	0			c.C459T						scavenged	.						82	68	73					8																	22464810		2203	4300	6503	SO:0001819	synonymous_variant	57805	exon6			GCCTCACCGGATT	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.459C>T	8.37:g.22464810C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	15	2	0.133333	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702375	0.15172	.	.	ENSG00000158941	ENST00000523801;ENST00000518989	.	.	.	5.96	0.261	0.15592	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	4	.	.	.	-25.3158	7.9306	0.29899	0.0:0.4073:0.0:0.5927	.	.	.	.	S	161;106	.	.	P	+	1	0	KIAA1967	22520755	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.425000	0.21346	0.097000	0.17492	-0.150000	0.13652	CCG	.	.	none		0.547	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		T	22464810	C	T	22464810	2	4	21	1	0	0	0	0	0	0	0	1	8265	506	18	2		2	KIAA1967	8	22464810	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	15591207	22464810	123899212	118	4992										
MCM4	4173	hgsc.bcm.edu	37	chr8	48875553	48875553	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atgtgaactgtgaacacatcAaatcatttgacaaaaatttg	6	6	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:48875553A>T	ENST00000262105.2	+	6	855	c.646A>T	c.(646-648)Aaa>Taa	p.K216*	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Nonsense_Mutation_p.K216*|PRKDC_ENST00000523565.1_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	216					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGAACACATCAAATCATTTGA	0.274																																					p.K216X		Atlas-SNP	.											.	MCM4	97	.	0			c.A646T						PASS	.						61	65	64					8																	48875553		2202	4299	6501	SO:0001587	stop_gained	4173	exon7			CACATCAAATCAT		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.646A>T	8.37:g.48875553A>T	ENSP00000262105:p.Lys216*	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	111	31	0.279279	NM_182746	Q8NEH1|Q99658	Nonsense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	33	5.216530	0.95104	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000519170	.	.	.	5.64	3.16	0.36331	.	0.515689	0.24332	N	0.039454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6873	12.5614	0.56283	0.7376:0.2624:0.0:0.0	.	.	.	.	X	216;216;203;176;166	.	ENSP00000262105:K216X	K	+	1	0	MCM4	49038106	1.000000	0.71417	0.921000	0.36526	0.971000	0.66376	3.376000	0.52417	0.379000	0.24794	0.379000	0.24179	AAA	.	.	none		0.274	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		T	48875553	A	T	48875553	4	4	21	1	0	0	0	0	0	1	0	0	9389	131	5	5	668	5	MCM4	8	48875553	Nonsense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	26410743	48875553	97488469	119	4993										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	7	7	3	1	rs200377849		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTTATGAAATTTCTAAGTG	0.388																																					p.N257K		Atlas-SNP	.											PCMTD1,trunk,malignant_melanoma,0,1	PCMTD1	73	1	1	Substitution - Missense(1)	skin(1)	c.T771G						scavenged	.						78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294	exon6			TATGAAATTTCTA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys	Somatic	290	2	0.00689655		WXS	Illumina HiSeq	Phase_I	169	7	0.0414201	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT	.	.	weak		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	21	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3857661	52733214	93630808	120	4994										
CYP7A1	1581	hgsc.bcm.edu	37	chr8	59409213	59409213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gctggaatggtgtttgcttgCgatgcccagaggaccacgag	15	9	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:59409213C>T	ENST00000301645.3	-	3	995	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	286					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTTTGCTTGCGATGCCCAGA	0.423									Neonatal Giant Cell Hepatitis																												p.S286S		Atlas-SNP	.											CYP7A1,NS,carcinoma,-1,2	CYP7A1	76	2	0			c.G858A						PASS	.						124	120	121					8																	59409213		2203	4300	6503	SO:0001819	synonymous_variant	1581	exon3	Familial Cancer Database	Neonatal Hemochromatosis	TGCTTGCGATGCC	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.858G>A	8.37:g.59409213C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_000780	P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																			.	.	none		0.423	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		T	59409213	C	T	59409213	2	4	21	1	0	0	0	0	0	0	0	1	4196	755	27	1		1	CYP7A1	8	59409213	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	6675999	59409213	86954809	121	4995										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100789120	100789120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggtttgtcccatccctttgCgtttctttccagtttgctca	7	12	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:100789120C>T	ENST00000358544.2	+	41	7551	c.7440C>T	c.(7438-7440)tgC>tgT	p.C2480C	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.C2455C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2480					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCCCTTTGCGTTTCTTTCC	0.458																																					p.C2480C	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.C7440T						PASS	.						285	226	246					8																	100789120		2203	4300	6503	SO:0001819	synonymous_variant	157680	exon41			CCTTTGCGTTTCT	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7440C>T	8.37:g.100789120C>T		Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	203	76	0.374384	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																			.	.	none		0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100789120	C	T	100789120	2	4	21	1	0	0	0	0	0	0	0	1	17187	776	27	1		1	VPS13B	8	100789120	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	41379907	100789120	45574902	122	4996										
CSMD3	114788	hgsc.bcm.edu	37	chr8	114031393	114031393	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgataattggtggtggtatAttcattccagataacctgaa	9	6	1	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:114031393A>T	ENST00000297405.5	-	6	1177	c.933T>A	c.(931-933)aaT>aaA	p.N311K	CSMD3_ENST00000455883.2_Missense_Mutation_p.N311K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N311K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N271K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	311	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGGTGGTATATTCATTCCAG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.N311K		Atlas-SNP	.											.	CSMD3	2325	.	0			c.T933A						PASS	.						182	167	172					8																	114031393		2203	4300	6503	SO:0001583	missense	114788	exon6			TGGTATATTCATT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.933T>A	8.37:g.114031393A>T	ENSP00000297405:p.Asn311Lys	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	146	54	0.369863	NM_052900	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	a	15.30	2.793743	0.50102	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.6	1.85	0.25348	CUB (5);	0.000000	0.64402	D	0.000001	D	0.90373	0.6987	N	0.25094	0.71	0.28935	N	0.891307	P;B;D;P	0.89917	0.952;0.002;1.0;0.5	B;B;D;B	0.87578	0.419;0.004;0.998;0.376	T	0.82222	-0.0564	10	0.05959	T	0.93	.	5.9155	0.19052	0.7421:0.0:0.135:0.1228	.	311;311;311;271	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	271;311;311;311	ENSP00000345799:N271K;ENSP00000297405:N311K;ENSP00000412263:N311K;ENSP00000343124:N311K	ENSP00000297405:N311K	N	-	3	2	CSMD3	114100569	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.922000	0.40045	0.076000	0.16826	-0.545000	0.04230	AAT	.	.	none		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114031393	A	T	114031393	3	4	21	1	0	0	0	0	1	0	0	0	3946	446	16	5	10454	5	CSMD3	8	114031393	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	13242273	114031393	32332629	123	4997										
TRPS1	7227	hgsc.bcm.edu	37	chr8	116616371	116616371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	caagtgcagaagcaagagtgCacagtgggaacaattacttt	11	7	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:116616371C>T	ENST00000220888.5	-	3	1945	c.1786G>A	c.(1786-1788)Gca>Aca	p.A596T	TRPS1_ENST00000519674.1_Missense_Mutation_p.A596T|TRPS1_ENST00000395715.3_Missense_Mutation_p.A609T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.A600T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	596					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCAAGAGTGCACAGTGGGAA	0.488									Langer-Giedion syndrome																												p.A609T		Atlas-SNP	.											TRPS1_ENST00000395715,NS,carcinoma,+1,2	TRPS1	516	2	0			c.G1825A						scavenged	.						71	71	71					8																	116616371		1981	4165	6146	SO:0001583	missense	7227	exon4	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AGAGTGCACAGTG	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1786G>A	8.37:g.116616371C>T	ENSP00000220888:p.Ala596Thr	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	3	0.026087	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025439	0.75390	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.87	5.87	0.94306	.	0.114243	0.64402	D	0.000009	T	0.21387	0.0515	N	0.24115	0.695	0.48185	D	0.999601	D;D;D	0.56968	0.978;0.963;0.978	P;P;P	0.53861	0.736;0.549;0.736	T	0.00412	-1.1755	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	600;596;609	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	T	609;596;600;596	ENSP00000379065:A609T;ENSP00000220888:A596T;ENSP00000428680:A600T;ENSP00000429174:A596T	ENSP00000220888:A596T	A	-	1	0	TRPS1	116685546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.883000	0.63128	2.941000	0.99782	0.655000	0.94253	GCA	.	.	none		0.488	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116616371	C	T	116616371	3	4	21	1	0	0	0	0	1	0	0	0	16590	710	25	2	2075	2	TRPS1	8	116616371	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	2584978	116616371	29747651	124	4998										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143956474	143956474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtagaagttcctgccggagcCcctgatgtctagccagcgct	12	13	1	2	rs368155421		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:143956474C>T	ENST00000292427.4	-	8	1329	c.1297G>A	c.(1297-1299)Ggc>Agc	p.G433S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504S|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	433					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTGCCGGAGCCCCTGATGTCT	0.637									Familial Hyperaldosteronism type I																												p.G433S		Atlas-SNP	.											CYP11B1,left_upper_lobe,carcinoma,+1,1	CYP11B1	128	1	0			c.G1297A						scavenged	.	C	,SER/GLY	1,4405		0,1,2202	80	89	86		,1297	1.2	0	8		86	0,8600		0,0,4300	no	intron,missense	CYP11B1	NM_001026213.1,NM_000497.3	,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,433/504	143956474	1,13005	2203	4300	6503	SO:0001583	missense	1584	exon8	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CGGAGCCCCTGAT	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1297G>A	8.37:g.143956474C>T	ENSP00000292427:p.Gly433Ser	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	86	2	0.0232558	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778396	0.31502	2.27E-4	0.0	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.71103	-0.54;-0.54;-0.54	4.22	1.19	0.21007	.	1.246760	0.05885	N	0.627227	T	0.53997	0.1831	N	0.25890	0.77	0.09310	N	1	B;B;B	0.24426	0.103;0.016;0.013	B;B;B	0.27796	0.083;0.012;0.025	T	0.36138	-0.9760	10	0.10377	T	0.69	.	5.2474	0.15504	0.1663:0.6253:0.0:0.2084	.	504;433;433	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	S	111;433;504	ENSP00000430144:G111S;ENSP00000292427:G433S;ENSP00000366903:G504S	ENSP00000292427:G433S	G	-	1	0	CYP11B1	143953476	0.000000	0.05858	0.002000	0.10522	0.052000	0.14988	0.181000	0.16880	0.312000	0.23038	0.561000	0.74099	GGC	.	.	weak		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143956474	C	T	143956474	3	4	21	1	0	0	0	0	1	0	0	0	4145	623	22	2	222	2	CYP11B1	8	143956474	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	27340103	143956474	2407548	125	4999										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143957271	143957271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttccgagccagctcaaagagCgtcatcagcaagggaaacac	10	12	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr8:143957271C>T	ENST00000292427.4	-	6	1010	c.978G>A	c.(976-978)acG>acA	p.T326T	CYP11B1_ENST00000377675.3_Silent_p.T397T|CYP11B1_ENST00000517471.1_Silent_p.T326T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	326					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCTCAAAGAGCGTCATCAGCA	0.637									Familial Hyperaldosteronism type I																												p.T326T		Atlas-SNP	.											CYP11B1,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,1	CYP11B1	128	1	0			c.G978A						scavenged	.						99	95	96					8																	143957271		2203	4300	6503	SO:0001819	synonymous_variant	1584	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	AAAGAGCGTCATC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.978G>A	8.37:g.143957271C>T		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																			.	.	none		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143957271	C	T	143957271	2	4	21	1	0	0	0	0	0	0	0	1	4145	755	27	1		1	CYP11B1	8	143957271	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	797	143957271	2406751	126	5000										
RFX3	5991	hgsc.bcm.edu	37	chr9	3225259	3225259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccagttcttcatccatttcaCtttctacttcactgccttca	2	15	6	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:3225259C>T	ENST00000382004.3	-	18	2344	c.2033G>A	c.(2032-2034)aGt>aAt	p.S678N		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	678					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATCCATTTCACTTTCTACTTC	0.418																																					p.S678N		Atlas-SNP	.											RFX3_ENST00000382004,NS,carcinoma,+1,1	RFX3	156	1	0			c.G2033A						PASS	.						95	91	93					9																	3225259		2203	4300	6503	SO:0001583	missense	5991	exon18			ATTTCACTTTCTA	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2033G>A	9.37:g.3225259C>T	ENSP00000371434:p.Ser678Asn	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	61	24	0.393443	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288405	0.59976	.	.	ENSG00000080298	ENST00000382004	T	0.45276	0.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.57536	1.79	0.80722	D	1	P	0.44734	0.842	B	0.36922	0.236	T	0.33574	-0.9863	10	0.33940	T	0.23	-14.4178	19.8344	0.96650	0.0:1.0:0.0:0.0	.	678	P48380	RFX3_HUMAN	N	678	ENSP00000371434:S678N	ENSP00000371434:S678N	S	-	2	0	RFX3	3215259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.448000	0.73469	2.686000	0.91538	0.643000	0.83706	AGT	.	.	none		0.418	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		T	3225259	C	T	3225259	3	4	21	1	0	0	0	0	1	0	0	0	13264	565	20	2	220	2	RFX3	9	3225259	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		3225259	137988172	127	5001										
HAUS6	54801	hgsc.bcm.edu	37	chr9	19058226	19058226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gaggtaagattcttccctttTcttggaaagagatttcttca	8	7	4	2	rs201053056		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:19058226T>G	ENST00000380502.3	-	16	3006	c.2539A>C	c.(2539-2541)Aaa>Caa	p.K847Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.K711Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	847					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTTCCCTTTTCTTGGAAAGA	0.428																																					p.K847Q		Atlas-SNP	.											.	HAUS6	66	.	0			c.A2539C						PASS	.						149	147	148					9																	19058226		2203	4300	6503	SO:0001583	missense	54801	exon16			CCCTTTTCTTGGA	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2539A>C	9.37:g.19058226T>G	ENSP00000369871:p.Lys847Gln	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	135	57	0.422222	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	0.794	-0.757692	0.03019	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.26660	1.73;1.72	5.27	0.291	0.15732	.	0.706131	0.13913	N	0.354089	T	0.12561	0.0305	N	0.17474	0.49	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.023	B;B;B	0.17433	0.018;0.012;0.012	T	0.26815	-1.0092	10	0.28530	T	0.3	-0.407	5.0616	0.14560	0.0:0.2258:0.3007:0.4735	.	812;711;847	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	Q	847;711	ENSP00000369871:K847Q;ENSP00000369865:K711Q	ENSP00000369865:K711Q	K	-	1	0	HAUS6	19048226	0.001000	0.12720	0.069000	0.20011	0.046000	0.14306	0.201000	0.17276	-0.090000	0.12462	-0.456000	0.05471	AAA	T|1.000;C|0.000	.	alt		0.428	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		G	19058226	T	G	19058226	3	3	21	1	0	0	0	0	1	0	0	0	6970	1792	62	5	336	5	HAUS6	9	19058226	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	15832967	19058226	122155205	128	5002										
HAUS6	54801	hgsc.bcm.edu	37	chr9	19058365	19058365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ataggactatttggctccagTttaaaattggcctctgaact	8	8	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:19058365T>C	ENST00000380502.3	-	16	2867	c.2400A>G	c.(2398-2400)aaA>aaG	p.K800K	HAUS6_ENST00000380496.1_Silent_p.K664K	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	800					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGGCTCCAGTTTAAAATTGG	0.398																																					p.K800K		Atlas-SNP	.											.	HAUS6	66	.	0			c.A2400G						PASS	.						68	72	71					9																	19058365		2203	4299	6502	SO:0001819	synonymous_variant	54801	exon16			CTCCAGTTTAAAA	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2400A>G	9.37:g.19058365T>C		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	132	49	0.371212	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			.	.	none		0.398	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		C	19058365	T	C	19058365	2	2	21	1	0	0	0	0	0	0	0	1	6970	1722	60	2		2	HAUS6	9	19058365	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10	139	19058365	122155066	129	5003										
HINT2	84681	hgsc.bcm.edu	37	chr9	35813717	35813717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agatggttggggctgctcccCcaggagttgcctgctgggcc	16	12	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:35813717C>T	ENST00000259667.5	-	2	187	c.146G>A	c.(145-147)gGg>gAg	p.G49E	SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000396638.2_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	49					apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTGCTCCCCCAGGAGTTGC	0.582											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G49E	GBM(185;1694 2122 5473 25431 37228)	Atlas-SNP	.											.	HINT2	15	.	0			c.G146A						PASS	.						48	43	45					9																	35813717		2203	4300	6503	SO:0001583	missense	84681	exon2			GCTCCCCCAGGAG	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.146G>A	9.37:g.35813717C>T	ENSP00000259667:p.Gly49Glu	Somatic	120	0	0	858	WXS	Illumina HiSeq	Phase_I	76	30	0.394737	NM_032593	Q5TCW3	Missense_Mutation	SNP	ENST00000259667.5	37	CCDS6594.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926970	0.34002	.	.	ENSG00000137133	ENST00000259667	T	0.73897	-0.79	5.08	4.18	0.49190	.	0.267851	0.36234	N	0.002713	T	0.48943	0.1528	N	0.19112	0.55	0.31821	N	0.625982	P	0.46952	0.887	B	0.26202	0.067	T	0.60895	-0.7172	10	0.49607	T	0.09	-14.0947	7.7201	0.28727	0.0:0.7473:0.1635:0.0893	.	49	Q9BX68	HINT2_HUMAN	E	49	ENSP00000259667:G49E	ENSP00000259667:G49E	G	-	2	0	HINT2	35803717	0.001000	0.12720	0.998000	0.56505	0.981000	0.71138	1.243000	0.32767	1.261000	0.44149	0.561000	0.74099	GGG	.	.	none		0.582	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		T	35813717	C	T	35813717	3	4	21	1	0	0	0	0	1	0	0	0	7112	623	22	2	361	2	HINT2	9	35813717	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	16755352	35813717	105399714	130	5004										
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		Atlas-SNP	.											.	AKAP2	98	.	0			c.C59T						PASS	.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	6	4	0.666667	NM_001004065	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083	0.083	strong		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	21	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	76997321	112811038	28402393	131	5005										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113234498	113234498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atggggcacttcttttaatcCgtgaggacttggcattgccg	12	9	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:113234498C>T	ENST00000401783.2	-	15	3041	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R879Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.R902Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	902					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R902L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTTTTAATCCGTGAGGACTT	0.403																																					p.R902Q		Atlas-SNP	.											SVEP1,NS,carcinoma,-1,1	SVEP1	326	1	1	Substitution - Missense(1)	lung(1)	c.G2705A						scavenged	.						159	161	161					9																	113234498		1920	4137	6057	SO:0001583	missense	79987	exon15			TTAATCCGTGAGG	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2705G>A	9.37:g.113234498C>T	ENSP00000384917:p.Arg902Gln	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	128	3	0.0234375	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483005	0.63962	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.79749	-1.05;-1.06;-1.3	5.25	5.25	0.73442	.	0.060080	0.64402	D	0.000003	T	0.77082	0.4078	M	0.67953	2.075	0.32757	N	0.505604	P;P	0.42456	0.462;0.78	B;B	0.31946	0.033;0.138	T	0.82814	-0.0271	10	0.33940	T	0.23	.	18.853	0.92240	0.0:1.0:0.0:0.0	.	902;902	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Q	902;879;902	ENSP00000384917:R902Q;ENSP00000363593:R879Q;ENSP00000304118:R902Q	ENSP00000304118:R902Q	R	-	2	0	SVEP1	112274319	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	4.143000	0.58051	2.476000	0.83614	0.650000	0.86243	CGG	.	.	none		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113234498	C	T	113234498	3	4	21	1	0	0	0	0	1	0	0	0	15417	652	23	1	8146	1	SVEP1	9	113234498	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	423460	113234498	27978933	132	5006										
GPR21	2844	hgsc.bcm.edu	37	chr9	125797749	125797749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtaacagtttctgcaactgtGtaatttatagtctctccaac	6	9	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:125797749G>A	ENST00000373642.1	+	1	944	c.904G>A	c.(904-906)Gta>Ata	p.V302I	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	302					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CTGCAACTGTGTAATTTATAG	0.468																																					p.V302I		Atlas-SNP	.											GPR21,NS,carcinoma,-1,1	GPR21	29	1	0			c.G904A						scavenged	.						94	91	92					9																	125797749		2203	4300	6503	SO:0001583	missense	2844	exon2			AACTGTGTAATTT	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.904G>A	9.37:g.125797749G>A	ENSP00000362746:p.Val302Ile	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	96	2	0.0208333	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	4.612	0.113799	0.08831	.	.	ENSG00000188394	ENST00000373642	T	0.32753	1.44	6.03	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.412228	0.22031	N	0.065592	T	0.12774	0.0310	N	0.04768	-0.165	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.13791	-1.0496	10	0.02654	T	1	-6.9191	10.7935	0.46447	0.1763:0.0:0.8237:0.0	.	302	Q99679	GPR21_HUMAN	I	302	ENSP00000362746:V302I	ENSP00000362746:V302I	V	+	1	0	GPR21	124837570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.913000	0.56394	0.619000	0.30197	0.655000	0.94253	GTA	.	.	none		0.468	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		A	125797749	G	A	125797749	3	1	21	1	0	0	0	0	1	0	0	0	6681	1377	48	2	906	2	GPR21	9	125797749	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	12563251	125797749	15415682	133	5007										
FAM102A	399665	hgsc.bcm.edu	37	chr9	130742408	130742408	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aatttcttcttcttcatcaaGaaagccatgagcgagttccc	6	11	5	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:130742408G>A	ENST00000373095.1	-	1	384	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	3										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTCATCAAGAAAGCCATGA	0.527																																					p.F3F		Atlas-SNP	.											.	FAM102A	32	.	0			c.C9T						PASS	.						93	106	101					9																	130742408		2203	4300	6503	SO:0001819	synonymous_variant	399665	exon1			CATCAAGAAAGCC		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.9C>T	9.37:g.130742408G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	59	25	0.423729	NM_001035254	A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	37	CCDS35150.1																																																																																			.	.	none		0.527	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			A	130742408	G	A	130742408	2	1	21	1	0	0	0	0	0	0	0	1	5382	933	33	2		2	FAM102A	9	130742408	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	4944659	130742408	10471023	134	5008										
SEC16A	9919	hgsc.bcm.edu	37	chr9	139371030	139371030	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcccccagtgggtggtgcgtAcggttttctgggctatctcc	14	12	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr9:139371030A>C	ENST00000371706.3	-	1	537	c.504T>G	c.(502-504)cgT>cgG	p.R168R	SEC16A_ENST00000290037.6_Silent_p.R168R|SEC16A_ENST00000431893.2_Silent_p.R168R|SEC16A_ENST00000313050.7_Silent_p.R346R			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	168					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)		GGTGGTGCGTACGGTTTTCTG	0.632																																					p.R346R		Atlas-SNP	.											.	SEC16A	249	.	0			c.T1038G						PASS	.						20	22	21					9																	139371030		1852	4093	5945	SO:0001819	synonymous_variant	9919	exon3			GTGCGTACGGTTT	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.504T>G	9.37:g.139371030A>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	87	40	0.45977	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																				.	.	none		0.632	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		C	139371030	A	C	139371030	2	2	21	1	0	0	0	0	0	0	0	1	13986	378	14	5		5	SEC16A	9	139371030	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	8628622	139371030	1842401	135	5009										
GPR158	57512	hgsc.bcm.edu	37	chr10	25701364	25701364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgtgtatgctgctcgacttcGttagcatgctggtggtctac	12	9	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:25701364G>A	ENST00000376351.3	+	4	1656	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	433					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTCGACTTCGTTAGCATGCT	0.473																																					p.V433I		Atlas-SNP	.											.	GPR158	255	.	0			c.G1297A						PASS	.						195	167	177					10																	25701364		2203	4300	6503	SO:0001583	missense	57512	exon4			GACTTCGTTAGCA	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1297G>A	10.37:g.25701364G>A	ENSP00000365529:p.Val433Ile	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	88	35	0.397727	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	5.850	0.341062	0.11069	.	.	ENSG00000151025	ENST00000376351	D	0.87729	-2.29	6.16	-9.35	0.00633	GPCR, family 3, C-terminal (2);	0.949110	0.08702	N	0.906239	T	0.65688	0.2715	N	0.04355	-0.22	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.60944	-0.7162	10	0.02654	T	1	.	15.4514	0.75277	0.7301:0.0789:0.1909:0.0	.	433	Q5T848	GP158_HUMAN	I	433	ENSP00000365529:V433I	ENSP00000365529:V433I	V	+	1	0	GPR158	25741370	0.208000	0.23494	0.004000	0.12327	0.915000	0.54546	0.141000	0.16076	-2.012000	0.00950	-2.218000	0.00297	GTT	.	.	none		0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25701364	G	A	25701364	3	1	21	1	0	0	0	0	1	0	0	0	6663	1145	40	1	1311	1	GPR158	10	25701364	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		25701364	109833383	136	5010										
ZNF438	220929	hgsc.bcm.edu	37	chr10	31138094	31138094	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttggggatcattttttactcTttctttaccatctctacact	4	10	4	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:31138094T>G	ENST00000361310.3	-	6	1569	c.1240A>C	c.(1240-1242)Aga>Cga	p.R414R	ZNF438_ENST00000538351.2_Silent_p.R365R|ZNF438_ENST00000331737.6_Silent_p.R404R|ZNF438_ENST00000413025.1_Silent_p.R414R|ZNF438_ENST00000436087.2_Silent_p.R414R|ZNF438_ENST00000452305.1_Silent_p.R404R|ZNF438_ENST00000444692.2_Silent_p.R404R|ZNF438_ENST00000442986.1_Silent_p.R414R|ZNF438_ENST00000375311.1_5'UTR			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	414					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTTTTTACTCTTTCTTTACCA	0.373																																					p.R414R		Atlas-SNP	.											.	ZNF438	90	.	0			c.A1240C						PASS	.						66	73	70					10																	31138094		2203	4298	6501	SO:0001819	synonymous_variant	220929	exon7			TTACTCTTTCTTT	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1240A>C	10.37:g.31138094T>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_182755	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																			.	.	none		0.373	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138094	T	G	31138094	2	3	21	1	0	0	0	0	0	0	0	1	17907	1617	56	5		5	ZNF438	10	31138094	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10	5436730	31138094	104396653	137	5011										
ZNF485	220992	hgsc.bcm.edu	37	chr10	44112510	44112510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atctttcaggtatagctcatCctttgctggtcatcagaaaa	7	9	5	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:44112510C>G	ENST00000361807.3	+	5	1213	c.1019C>G	c.(1018-1020)tCc>tGc	p.S340C	ZNF485_ENST00000374435.3_Missense_Mutation_p.S340C|ZNF485_ENST00000374437.2_Missense_Mutation_p.S249C	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	340					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TATAGCTCATCCTTTGCTGGT	0.428																																					p.S340C		Atlas-SNP	.											.	ZNF485	102	.	0			c.C1019G						PASS	.						122	117	119					10																	44112510		2203	4300	6503	SO:0001583	missense	220992	exon5			GCTCATCCTTTGC	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1019C>G	10.37:g.44112510C>G	ENSP00000354694:p.Ser340Cys	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_145312	B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086676	0.20390	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.08008	3.14;3.14;3.14	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17704	0.0425	L	0.56124	1.755	0.09310	N	1	P	0.52842	0.956	P	0.57776	0.827	T	0.04811	-1.0925	9	0.62326	D	0.03	.	9.7485	0.40462	0.0:1.0:0.0:0.0	.	340	Q8NCK3	ZN485_HUMAN	C	340;249;340	ENSP00000354694:S340C;ENSP00000363560:S249C;ENSP00000363558:S340C	ENSP00000354694:S340C	S	+	2	0	ZNF485	43432516	0.000000	0.05858	0.680000	0.29994	0.951000	0.60555	-1.275000	0.02817	1.337000	0.45525	0.313000	0.20887	TCC	.	.	none		0.428	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		G	44112510	C	G	44112510	3	3	21	1	0	0	0	0	1	0	0	0	17935	855	30	4	1033	4	ZNF485	10	44112510	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	12974416	44112510	91422237	138	5012										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55782809	55782811	+	In_Frame_Del	DEL	ACA	ACA	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtactgctccatctgttgccAcaacaacaagttcatagtag					rs483352837		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:55782809_55782811delACA	ENST00000320301.6	-	19	2761_2763	c.2367_2369delTGT	c.(2365-2370)gttgtg>gtg	p.789_790VV>V	PCDH15_ENST00000395433.1_In_Frame_Del_p.767_768VV>V|PCDH15_ENST00000395445.1_In_Frame_Del_p.796_797VV>V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_In_Frame_Del_p.789_790VV>V|PCDH15_ENST00000361849.3_In_Frame_Del_p.789_790VV>V|PCDH15_ENST00000395432.2_In_Frame_Del_p.752_753VV>V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.789_790VV>V|PCDH15_ENST00000373965.2_In_Frame_Del_p.796_797VV>V|PCDH15_ENST00000409834.1_In_Frame_Del_p.400_401VV>V|PCDH15_ENST00000395438.1_In_Frame_Del_p.789_790VV>V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.718_719VV>V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.794_795VV>V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	789	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V790L(2)|p.V795L(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTGTTGCCACAACAACAAGTT	0.414										HNSCC(58;0.16)																											p.795_795del		Pindel,Atlas-Indel	.											PCDH15_ENST00000417177,NS,carcinoma,-2,4	PCDH15	1715	4	4	Substitution - Missense(4)	lung(4)	c.2383_2385del						PASS	.		,,,,,,,,,,,	6,4258		3,0,2129					,,,,,,,,,,,	4.9	1			181	21,8233		10,1,4116	no	coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding	PCDH15	NM_033056.3,NM_001142773.1,NM_001142772.1,NM_001142771.1,NM_001142770.1,NM_001142769.1,NM_001142768.1,NM_001142767.1,NM_001142766.1,NM_001142765.1,NM_001142764.1,NM_001142763.1	,,,,,,,,,,,	13,1,6245	A1A1,A1R,RR		0.2544,0.1407,0.2157	,,,,,,,,,,,	,,,,,,,,,,,		27,12491				SO:0001651	inframe_deletion	65217	exon20			.	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2367_2369delTGT	10.37:g.55782815_55782817delACA	ENSP00000322604:p.Val790del	Somatic	171	.	.		WXS	Illumina HiSeq	Phase_I	134	37	0.276	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	CCDS7248.1																																																																																			.	.	none		0.414	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		-	55782811	ACA	-	55782809	7	5	21	1	0	1	0	1	0	0	0	0	11511	159	6	0	5177	0	PCDH15	10	55782809	In_Frame_Del	DEL	ACA	TCGA-FM-8000-01A-11D-2210-10	11670299	55782809	79751938	139	5013										
ANK3	288	hgsc.bcm.edu	37	chr10	61946498	61946498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgctcaggttcacattcgcaTttctaccgaggagcagcgac	10	12	3	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:61946498T>C	ENST00000280772.2	-	17	2251	c.2060A>G	c.(2059-2061)aAt>aGt	p.N687S	ANK3_ENST00000373827.2_Missense_Mutation_p.N681S|ANK3_ENST00000503366.1_Missense_Mutation_p.N670S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	687					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACATTCGCATTTCTACCGAG	0.517																																					p.N687S		Atlas-SNP	.											.	ANK3	703	.	0			c.A2060G						PASS	.						201	148	166					10																	61946498		2203	4300	6503	SO:0001583	missense	288	exon17			TTCGCATTTCTAC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2060A>G	10.37:g.61946498T>C	ENSP00000280772:p.Asn687Ser	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	100	55	0.55	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659040	0.47467	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.15256	2.44;2.44;2.44	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.44902	D	0.000401	T	0.15176	0.0366	L	0.37630	1.12	0.80722	D	1	B;B;B;B;B	0.21071	0.002;0.001;0.005;0.025;0.051	B;B;B;B;B	0.19946	0.005;0.009;0.023;0.021;0.027	T	0.03773	-1.1005	10	0.46703	T	0.11	.	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	670;348;231;681;687	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	S	687;681;670;649;348;348;231	ENSP00000280772:N687S;ENSP00000362933:N681S;ENSP00000425236:N670S	ENSP00000280772:N687S	N	-	2	0	ANK3	61616504	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	4.282000	0.58971	2.371000	0.80710	0.533000	0.62120	AAT	.	.	none		0.517	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61946498	T	C	61946498	3	2	21	1	0	0	0	0	1	0	0	0	622	1493	52	2	11514	2	ANK3	10	61946498	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	6163689	61946498	73588249	140	5014										
RUFY2	55680	hgsc.bcm.edu	37	chr10	70143622	70143622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acatttcatctagcccctgaCgagaatgcttatatgtttga	7	9	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:70143622C>T	ENST00000602465.1	-	10	972	c.872G>A	c.(871-873)cGt>cAt	p.R291H	RUFY2_ENST00000399200.2_Missense_Mutation_p.R257H|RUFY2_ENST00000454950.2_Missense_Mutation_p.R233H|RUFY2_ENST00000388768.2_Missense_Mutation_p.R326H|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	340						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAGCCCCTGACGAGAATGCTT	0.353																																					p.R326H		Atlas-SNP	.											.	RUFY2	58	.	0			c.G977A						PASS	.						143	129	133					10																	70143622		1866	4102	5968	SO:0001583	missense	55680	exon10			CCCTGACGAGAAT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.872G>A	10.37:g.70143622C>T	ENSP00000473462:p.Arg291His	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	74	41	0.554054	NM_017987	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.126953	0.94429	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.54479	0.57;1.78;1.36	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.987;0.994;0.991;0.994	T	0.70970	-0.4727	10	0.49607	T	0.09	.	16.8596	0.86014	0.0:1.0:0.0:0.0	.	233;291;257;326	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	H	326;257;233	ENSP00000373420:R326H;ENSP00000382151:R257H;ENSP00000404986:R233H	ENSP00000373420:R326H	R	-	2	0	RUFY2	69813628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.004000	0.76317	2.647000	0.89833	0.585000	0.79938	CGT	.	.	none		0.353	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		T	70143622	C	T	70143622	3	4	21	1	0	0	0	0	1	0	0	0	13739	536	19	1	1097	1	RUFY2	10	70143622	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	8197124	70143622	65391125	141	5015										
LOXL4	84171	hgsc.bcm.edu	37	chr10	100017842	100017842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tccacctgtggtcacagaccGtgccccactggcggttcatg	11	15	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:100017842G>A	ENST00000260702.3	-	7	1151	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	334	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTCACAGACCGTGCCCCACTG	0.682																																					p.T334M		Atlas-SNP	.											.	LOXL4	60	.	0			c.C1001T						PASS	.						70	64	66					10																	100017842		2203	4300	6503	SO:0001583	missense	84171	exon7			CAGACCGTGCCCC	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1001C>T	10.37:g.100017842G>A	ENSP00000260702:p.Thr334Met	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	72	25	0.347222	NM_032211	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952441	0.92660	.	.	ENSG00000138131	ENST00000260702	T	0.39229	1.09	4.94	4.94	0.65067	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85790	0.1367	10	0.66056	D	0.02	.	18.1558	0.89690	0.0:0.0:1.0:0.0	.	334	Q96JB6	LOXL4_HUMAN	M	334	ENSP00000260702:T334M	ENSP00000260702:T334M	T	-	2	0	LOXL4	100007832	1.000000	0.71417	0.929000	0.37066	0.949000	0.60115	9.869000	0.99810	2.283000	0.76528	0.549000	0.68633	ACG	.	.	none		0.682	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		A	100017842	G	A	100017842	3	1	21	1	0	0	0	0	1	0	0	0	8902	1145	40	1	1305	1	LOXL4	10	100017842	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	29874220	100017842	35516905	142	5016										
VTI1A	143187	hgsc.bcm.edu	37	chr10	114575107	114575107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcatcgtggtcatcaccatcCtgatggcgatcactttttct	7	12	5	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:114575107C>T	ENST00000393077.2	+	8	735	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	207					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)	p.L207V(1)	VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCACCATCCTGATGGCGAT	0.443			T	TCF7L2	colorectal																																p.L207L		Atlas-SNP	.		Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	VTI1A,caecum,carcinoma,-1,4	VTI1A	15	4	1	Substitution - Missense(1)	ovary(1)	c.C619T						scavenged	.						147	141	143					10																	114575107		2037	4191	6228	SO:0001819	synonymous_variant	143187	exon8			ACCATCCTGATGG	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.619C>T	10.37:g.114575107C>T		Somatic	217	2	0.00921659		WXS	Illumina HiSeq	Phase_I	150	3	0.02	NM_145206	A2A307|B4E137|Q5W0D7	Silent	SNP	ENST00000393077.2	37	CCDS7575.2																																																																																			.	.	none		0.443	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			T	114575107	C	T	114575107	2	4	21	1	0	0	0	0	0	0	0	1	17232	680	24	2		2	VTI1A	10	114575107	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	14557265	114575107	20959640	143	5017										
PNLIPRP1	5407	hgsc.bcm.edu	37	chr10	118351352	118351352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctggggcgggacagcaatcaGgcccctgaaaattctcccct	11	14	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr10:118351352G>A	ENST00000528052.1	+	3	190	c.119G>A	c.(118-120)aGg>aAg	p.R40K	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R40K|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R40K|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R40K			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	40					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAGCAATCAGGCCCCTGAAA	0.512																																					p.R40K		Atlas-SNP	.											.	PNLIPRP1	82	.	0			c.G119A						PASS	.						111	118	116					10																	118351352		2203	4300	6503	SO:0001583	missense	5407	exon3			CAATCAGGCCCCT	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.119G>A	10.37:g.118351352G>A	ENSP00000433933:p.Arg40Lys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	61	20	0.327869	NM_006229	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277781	0.59758	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.51	4.59	0.56863	Lipase, N-terminal (1);	0.128417	0.53938	D	0.000050	D	0.96636	0.8902	H	0.95328	3.655	0.45995	D	0.998805	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97514	1.0068	10	0.72032	D	0.01	-8.5798	14.5305	0.67923	0.0:0.0:0.852:0.148	.	40;40	P54315;P54315-2	LIPR1_HUMAN;.	K	40	ENSP00000436123:R40K;ENSP00000351695:R40K;ENSP00000433933:R40K;ENSP00000400963:R40K;ENSP00000437263:R40K;ENSP00000433785:R40K;ENSP00000431207:R40K;ENSP00000434159:R40K	ENSP00000351695:R40K	R	+	2	0	PNLIPRP1	118341342	1.000000	0.71417	0.937000	0.37676	0.979000	0.70002	6.886000	0.75611	1.304000	0.44892	0.655000	0.94253	AGG	.	.	none		0.512	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		A	118351352	G	A	118351352	3	1	21	1	0	0	0	0	1	0	0	0	12150	1000	35	2	125	2	PNLIPRP1	10	118351352	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	3776245	118351352	17183395	144	5018										
RNH1	6050	hgsc.bcm.edu	37	chr11	499889	499889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgcagagcagctgcaggcccGcatcccccaagaggttgtcg	13	15	0	2	rs577864215		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:499889G>A	ENST00000534797.1	-	3	1790	c.383C>T	c.(382-384)gCg>gTg	p.A128V	RNH1_ENST00000356187.5_Missense_Mutation_p.A128V|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000438658.2_Missense_Mutation_p.A128V|RNH1_ENST00000397604.3_Missense_Mutation_p.A128V|RNH1_ENST00000354420.2_Missense_Mutation_p.A128V|RNH1_ENST00000397615.2_Missense_Mutation_p.A128V|RNH1_ENST00000533410.1_Missense_Mutation_p.A128V|RNH1_ENST00000397614.1_Missense_Mutation_p.A128V			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.A128V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGCCCGCATCCCCCAA	0.682																																					p.A128V		Atlas-SNP	.											RNH1,NS,carcinoma,0,1	RNH1	24	1	1	Substitution - Missense(1)	lung(1)	c.C383T						scavenged	.						49	47	48					11																	499889		2202	4300	6502	SO:0001583	missense	6050	exon4			AGGCCCGCATCCC		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.383C>T	11.37:g.499889G>A	ENSP00000433999:p.Ala128Val	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	111	3	0.027027	NM_203384	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	G	5.077	0.199874	0.09652	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368;ENST00000529306;ENST00000531149	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	3.03	-3.64	0.04515	.	1.099880	0.07135	N	0.846309	T	0.42607	0.1210	L	0.41079	1.255	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.19224	-1.0312	10	0.25106	T	0.35	.	0.4476	0.00496	0.2248:0.1465:0.2564:0.3723	.	128	P13489	RINI_HUMAN	V	128	ENSP00000433999:A128V;ENSP00000380738:A128V;ENSP00000380739:A128V;ENSP00000380729:A128V;ENSP00000435594:A128V;ENSP00000416589:A128V;ENSP00000346402:A128V;ENSP00000348515:A128V;ENSP00000435748:A128V;ENSP00000435057:A128V;ENSP00000434947:A128V;ENSP00000435798:A128V	ENSP00000346402:A128V	A	-	2	0	RNH1	489889	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.090000	0.11163	-0.761000	0.04670	-0.333000	0.08304	GCG	.	.	none		0.682	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		A	499889	G	A	499889	3	1	21	1	0	0	0	0	1	0	0	0	13504	1087	38	1	1030	1	RNH1	11	499889	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		499889	134506627	145	5019										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017483	1017483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttctggtgcctgtactggtgTggttgggggtgatgctggtg	19	5	1	1	rs79986665		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:1017483T>G	ENST00000421673.2	-	31	5368	c.5318A>C	c.(5317-5319)cAc>cCc	p.H1773P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1773	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGGTGTGGTTGGGGGT	0.577																																					p.H1773P		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.A5318C						scavenged	.						544	541	542					11																	1017483		2199	4294	6493	SO:0001583	missense	4588	exon31			CTGGTGTGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5318A>C	11.37:g.1017483T>G	ENSP00000406861:p.His1773Pro	Somatic	901	170	0.188679		WXS	Illumina HiSeq	Phase_I	411	89	0.216545	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	4.174	0.030796	0.08101	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.91	0.844	0.18943	.	.	.	.	.	T	0.04907	0.0132	N	0.01109	-1.01	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.43065	-0.9414	9	0.22706	T	0.39	.	6.6218	0.22808	0.0:0.1732:0.4682:0.3586	.	1773	Q6W4X9	MUC6_HUMAN	P	1773	ENSP00000406861:H1773P	ENSP00000406861:H1773P	H	-	2	0	MUC6	1007483	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	0.066000	0.16515	-0.743000	0.03520	CAC	T|0.500;G|0.500	0.500	weak		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017483	T	G	1017483	3	3	21	1	0	0	0	0	1	0	0	0	9980	1696	59	5	2013	5	MUC6	11	1017483	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	517594	1017483	133989033	146	5020										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092553	1092553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccaccactcccagccctccaAtaagcaccacaaccacccct	2	23	0	0	rs570715417	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:1092553A>C	ENST00000441003.2	+	30	4399	c.4372A>C	c.(4372-4374)Ata>Cta	p.I1458L	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.I1459L|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4238	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)	CAGCCCTCCAATAAGcaccac	0.632													a|||	114	0.0227636	0.0189	0.0274	5008	,	,		16743	0.0188		0.0219	False		,,,				2504	0.0297				p.I1458L		Atlas-SNP	.											MUC2_ENST00000441003,extremity,malignant_melanoma,-1,2	MUC2	614	2	0			c.A4372C						scavenged	.						150	246	213					11																	1092553		1570	3013	4583	SO:0001583	missense	4583	exon30			CCTCCAATAAGCA	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.4372A>C	11.37:g.1092553A>C	ENSP00000415183:p.Ile1458Leu	Somatic	270	5	0.0185185		WXS	Illumina HiSeq	Phase_I	164	7	0.0426829	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	a	2.178	-0.388262	0.04932	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12255	2.73;2.7	1.61	-3.21	0.05140	.	46.913700	0.01168	N	0.006809	T	0.07413	0.0187	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	0.26408	T	0.33	.	1.1043	0.01690	0.3277:0.2218:0.3119:0.1387	.	1458	E7EUV1	.	L	1458;1459	ENSP00000415183:I1458L;ENSP00000351956:I1459L	ENSP00000351956:I1459L	I	+	1	0	MUC2	1082553	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-1.929000	0.01057	0.000000	0.15137	ATA	.	.	none		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1092553	A	C	1092553	3	2	21	1	0	0	0	0	1	0	0	0	9975	101	4	5	4490	5	MUC2	11	1092553	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	75070	1092553	133913963	147	5021										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092950	1092950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gacacccatcaccaccaccaCtacggtgaccccaaccccaa	4	21	1	1	rs199605832		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:1092950C>T	ENST00000441003.2	+	30	4796	c.4769C>T	c.(4768-4770)aCt>aTt	p.T1590I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1591I|MUC2_ENST00000333592.6_5'Flank	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)		p.T1591I(1)|p.T1590I(1)		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)	accaccaccactacggtgacc	0.632																																					p.T1590I		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	2	Substitution - Missense(2)	endometrium(2)	c.C4769T						scavenged	.	C	ILE/THR	6,3646		0,6,1820	56	90	78		4766	-3.5	0	11		78	4,6702		0,4,3349	no	missense	MUC2	NM_002457.2	89	0,10,5169	TT,TC,CC		0.0596,0.1643,0.0965	possibly-damaging	1589/2813	1092950	10,10348	1826	3353	5179	SO:0001583	missense	4583	exon30			CCACCACTACGGT	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.4769C>T	11.37:g.1092950C>T	ENSP00000415183:p.Thr1590Ile	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	55	3	0.0545455	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	4.282	0.051491	0.08291	0.001643	5.96E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15372	2.43;2.75	1.75	-3.51	0.04696	.	79.651400	0.00166	U	0.000017	T	0.09113	0.0225	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.31686	0.134	T	0.33954	-0.9848	9	0.51188	T	0.08	.	5.4287	0.16440	0.2102:0.3762:0.4136:0.0	.	1590	E7EUV1	.	I	1590;1591	ENSP00000415183:T1590I;ENSP00000351956:T1591I	ENSP00000351956:T1591I	T	+	2	0	MUC2	1082950	0.003000	0.15002	0.000000	0.03702	0.181000	0.23173	1.844000	0.39269	-1.047000	0.03242	0.121000	0.15741	ACT	.	.	weak		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092950	C	T	1092950	3	4	21	1	0	0	0	0	1	0	0	0	9975	565	20	2	4887	2	MUC2	11	1092950	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	397	1092950	133913566	148	5022										
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007209	6007209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cactctgagcactcgctggcGgatctgctgagtcttcactc	10	14	4	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:6007209G>A	ENST00000332249.4	-	1	1006	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCGCTGGCGGATCTGCTGA	0.502																																					p.R318C	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											OR52L1_ENST00000332249,NS,carcinoma,+1,6	OR52L1	100	6	0			c.C952T						scavenged	.						48	49	48					11																	6007209		2027	4201	6228	SO:0001583	missense	338751	exon1			GCTGGCGGATCTG	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.952C>T	11.37:g.6007209G>A	ENSP00000330338:p.Arg318Cys	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	101	2	0.019802	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828738	0.16749	.	.	ENSG00000183313	ENST00000332249	T	0.58358	0.34	3.57	1.68	0.24146	.	0.000000	0.43747	D	0.000530	T	0.35828	0.0945	N	0.12569	0.235	0.35182	D	0.77256	D	0.67145	0.996	P	0.46885	0.53	T	0.50524	-0.8818	10	0.87932	D	0	.	8.7869	0.34825	0.1946:0.0:0.8054:0.0	.	318	Q8NGH7	O52L1_HUMAN	C	318	ENSP00000330338:R318C	ENSP00000330338:R318C	R	-	1	0	OR52L1	5963785	0.065000	0.20965	0.998000	0.56505	0.008000	0.06430	1.261000	0.32980	0.321000	0.23259	-1.745000	0.00682	CGC	.	.	none		0.502	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		A	6007209	G	A	6007209	3	1	21	1	0	0	0	0	1	0	0	0	11125	1116	39	1	41	1	OR52L1	11	6007209	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	4914259	6007209	128999307	149	5023										
OR10A5	144124	hgsc.bcm.edu	37	chr11	6866966	6866966	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atttatcctcatgagcttctCttccctacctactgaaatac	3	13	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:6866966C>A	ENST00000299454.4	+	1	84	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	OR10A5_ENST00000379831.2_Missense_Mutation_p.S22Y			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	18					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCTTCTCTTCCCTACCT	0.413																																					p.S18Y	Pancreas(44;21 1072 25662 28041 45559)	Atlas-SNP	.											.	OR10A5	48	.	0			c.C53A						PASS	.						185	192	190					11																	6866966		2201	4296	6497	SO:0001583	missense	144124	exon1			GCTTCTCTTCCCT	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.53C>A	11.37:g.6866966C>A	ENSP00000299454:p.Ser18Tyr	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	220	85	0.386364	NM_178168	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662395	0.47572	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.01106	5.33;5.33	3.46	3.46	0.39613	.	0.000000	0.50627	D	0.000101	T	0.07234	0.0183	M	0.93550	3.43	0.32884	D	0.510957	P	0.44776	0.843	P	0.53954	0.738	T	0.01087	-1.1456	10	0.72032	D	0.01	.	13.2073	0.59805	0.0:1.0:0.0:0.0	.	18	Q9H207	O10A5_HUMAN	Y	18;22	ENSP00000299454:S18Y;ENSP00000369159:S22Y	ENSP00000299454:S18Y	S	+	2	0	OR10A5	6823542	0.749000	0.28305	0.976000	0.42696	0.745000	0.42441	3.177000	0.50871	2.225000	0.72522	0.591000	0.81541	TCT	.	.	none		0.413	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		A	6866966	C	A	6866966	3	1	21	1	0	0	0	0	1	0	0	0	10893	913	32	4	55	4	OR10A5	11	6866966	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	859757	6866966	128139550	150	5024										
MUC15	143662	hgsc.bcm.edu	37	chr11	26582750	26582750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aaactcacatcataaggttcCggtgcattgtctaatcgcag	8	10	3	0	rs201499877		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:26582750C>T	ENST00000455601.2	-	4	985	c.867G>A	c.(865-867)ccG>ccA	p.P289P	MUC15_ENST00000436318.2_Silent_p.P316P|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.P316P|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000527569.1_Silent_p.P266P|MUC15_ENST00000281268.8_Silent_p.P266P|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	289					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P289P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATAAGGTTCCGGTGCATTGT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0				p.P316P		Atlas-SNP	.											MUC15,NS,carcinoma,0,1	MUC15	88	1	1	Substitution - coding silent(1)	kidney(1)	c.G948A						scavenged	.						127	114	119					11																	26582750		2203	4300	6503	SO:0001819	synonymous_variant	143662	exon5			AGGTTCCGGTGCA	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.867G>A	11.37:g.26582750C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	129	4	0.0310078	NM_001135091	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1																																																																																			C|0.999;T|0.001	0.001	strong		0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		T	26582750	C	T	26582750	2	4	21	1	0	0	0	0	0	0	0	1	9972	639	23	1		1	MUC15	11	26582750	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	19715784	26582750	108423766	151	5025										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032685	55032685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cacagggagacaaagaagatGttctgtgaagtggacaggag	15	5	1	4			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:55032685G>A	ENST00000417545.2	+	2	440	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	102						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAAAGAAGATGTTCTGTGAAG	0.532																																					p.M118I		Atlas-SNP	.											TRIM48_ENST00000417545,right_lower_lobe,carcinoma,0,4	TRIM48	149	4	0			c.G354A						scavenged	.						80	73	76					11																	55032685		2187	4260	6447	SO:0001583	missense	79097	exon2			GAAGATGTTCTGT	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.354G>A	11.37:g.55032685G>A	ENSP00000402414:p.Met118Ile	Somatic	550	3	0.00545455		WXS	Illumina HiSeq	Phase_I	355	4	0.0112676	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	8.132	0.783204	0.16189	.	.	ENSG00000150244	ENST00000417545	T	0.39787	1.06	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.20170	0.0485	N	0.10916	0.065	0.20638	N	0.999872	B	0.06786	0.001	B	0.20577	0.03	T	0.22906	-1.0203	9	0.25751	T	0.34	.	4.4726	0.11720	0.0:0.4247:0.5752:1.0E-4	.	102	Q8IWZ4	TRI48_HUMAN	I	118	ENSP00000402414:M118I	ENSP00000402414:M118I	M	+	3	0	TRIM48	54789261	0.940000	0.31905	0.877000	0.34402	0.792000	0.44763	-1.076000	0.03420	0.629000	0.30376	0.413000	0.27773	ATG	.	.	none		0.532	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			A	55032685	G	A	55032685	3	1	21	1	0	0	0	0	1	0	0	0	16520	1377	48	2	360	2	TRIM48	11	55032685	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	28449935	55032685	79973831	152	5026										
OR4C16	219428	hgsc.bcm.edu	37	chr11	55340486	55340486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agaatacagaagtgaaaagtGccatgaggaagctttggagc	13	5	0	4			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:55340486G>A	ENST00000314634.3	+	1	883	c.883G>A	c.(883-885)Gcc>Acc	p.A295T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGTGAAAAGTGCCATGAGGAA	0.368																																					p.A295T		Atlas-SNP	.											.	OR4C16	104	.	0			c.G883A						PASS	.						45	43	44					11																	55340486		2201	4296	6497	SO:0001583	missense	219428	exon1			AAAAGTGCCATGA	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.883G>A	11.37:g.55340486G>A	ENSP00000324913:p.Ala295Thr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	65	24	0.369231	NM_001004701	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795312	0.31777	.	.	ENSG00000181935	ENST00000314634	T	0.42131	0.98	4.68	3.77	0.43336	.	0.000000	0.64402	D	0.000016	T	0.38904	0.1058	L	0.47716	1.5	0.26601	N	0.973018	B	0.32338	0.365	B	0.37239	0.244	T	0.40059	-0.9583	10	0.66056	D	0.02	.	10.7693	0.46312	0.0931:0.0:0.9069:0.0	.	295	Q8NGL9	OR4CG_HUMAN	T	295	ENSP00000324913:A295T	ENSP00000324913:A295T	A	+	1	0	OR4C16	55097062	0.004000	0.15560	0.990000	0.47175	0.345000	0.29048	1.157000	0.31724	1.203000	0.43233	0.549000	0.68633	GCC	.	.	none		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55340486	G	A	55340486	3	1	21	1	0	0	0	0	1	0	0	0	11049	1319	46	2	885	2	OR4C16	11	55340486	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	307801	55340486	79666030	153	5027										
C2CD3	26005	hgsc.bcm.edu	37	chr11	73881800	73881800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tacctctttttttgcgcccaCggctgcccccagacccttgg	8	17	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:73881800C>T	ENST00000334126.7	-	1	264	c.38G>A	c.(37-39)cGt>cAt	p.R13H	C2CD3_ENST00000313663.7_Missense_Mutation_p.R13H|PPME1_ENST00000328257.8_5'Flank|PPME1_ENST00000398427.4_5'Flank|C2CD3_ENST00000539061.1_Missense_Mutation_p.R13H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	13					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTGCGCCCACGGCTGCCCCC	0.542																																					p.R13H		Atlas-SNP	.											C2CD3_ENST00000334126,NS,carcinoma,+1,2	C2CD3	288	2	0			c.G38A						scavenged	.						100	86	91					11																	73881800		2200	4293	6493	SO:0001583	missense	26005	exon1			CGCCCACGGCTGC	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.38G>A	11.37:g.73881800C>T	ENSP00000334379:p.Arg13His	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	104	3	0.0288462	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	14.47	2.545639	0.45280	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T;T	0.78707	-1.2;-1.2;-1.2	5.47	3.6	0.41247	.	0.355946	0.25529	N	0.030048	T	0.70193	0.3196	L	0.60455	1.87	0.30966	N	0.723139	B;B	0.28258	0.205;0.098	B;B	0.18871	0.021;0.023	T	0.69818	-0.5042	10	0.66056	D	0.02	-1.5549	8.4487	0.32858	0.0:0.8194:0.0:0.1806	.	13;13	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	H	13	ENSP00000334379:R13H;ENSP00000323339:R13H;ENSP00000445933:R13H	ENSP00000289350:R13H	R	-	2	0	C2CD3	73559448	0.766000	0.28496	1.000000	0.80357	0.557000	0.35523	1.056000	0.30480	0.670000	0.31165	-0.291000	0.09656	CGT	.	.	none		0.542	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73881800	C	T	73881800	3	4	21	1	0	0	0	0	1	0	0	0	2154	536	19	1	5977	1	C2CD3	11	73881800	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	18541314	73881800	61124716	154	5028										
BCO2	83875	hgsc.bcm.edu	37	chr11	112071462	112071462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgggaaccccagtgtaataCgcggtttcatgtggtggaaa	13	8	1	0	rs141269805		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:112071462C>T	ENST00000357685.5	+	7	1127	c.992C>T	c.(991-993)aCg>aTg	p.T331M	BCO2_ENST00000532593.1_Missense_Mutation_p.T226M|BCO2_ENST00000531169.1_Missense_Mutation_p.T297M|BCO2_ENST00000526088.1_Missense_Mutation_p.T297M|BCO2_ENST00000393032.2_Missense_Mutation_p.T297M|BCO2_ENST00000438022.1_Missense_Mutation_p.T297M|BCO2_ENST00000361053.4_Missense_Mutation_p.T258M			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	331					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CAGTGTAATACGCGGTTTCAT	0.398																																					p.T331M	GBM(177;1916 2099 21049 29541 39946)	Atlas-SNP	.											.	BCO2	44	.	0			c.C992T						PASS	.	C	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	121	124	123		890,992	5.4	0.9	11	dbSNP_134	123	0,8594		0,0,4297	no	missense,missense	BCO2	NM_001037290.1,NM_031938.4	81,81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	297/546,331/580	112071462	1,12995	2201	4297	6498	SO:0001583	missense	83875	exon7			GTAATACGCGGTT	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.992C>T	11.37:g.112071462C>T	ENSP00000350314:p.Thr331Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	92	33	0.358696	NM_031938	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354480	0.61293	2.27E-4	0.0	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.993	D	0.98900	1.0776	10	0.87932	D	0	-17.1853	19.2802	0.94050	0.0:1.0:0.0:0.0	.	308;258;331;158	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	M	331;297;258;297;297;226;297	ENSP00000350314:T331M;ENSP00000376752:T297M;ENSP00000354338:T258M;ENSP00000414843:T297M;ENSP00000436615:T297M;ENSP00000431802:T226M;ENSP00000437053:T297M	ENSP00000350314:T331M	T	+	2	0	BCO2	111576672	1.000000	0.71417	0.948000	0.38648	0.108000	0.19459	5.274000	0.65569	2.579000	0.87056	0.585000	0.79938	ACG	C|1.000;T|0.000	0.000	weak		0.398	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		T	112071462	C	T	112071462	3	4	21	1	0	0	0	0	1	0	0	0	1385	536	19	1	1018	1	BCO2	11	112071462	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	38189662	112071462	22935054	155	5029										
HTR3A	3359	hgsc.bcm.edu	37	chr11	113848285	113848285	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcctgtcaatgaatgcatagGtcctttctacaaggtaatac	7	9	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:113848285G>A	ENST00000504030.2	+	2	512				HTR3A_ENST00000506841.2_Intron|HTR3A_ENST00000355556.2_Intron|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000299961.5_Silent_p.R3R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GAATGCATAGGTCCTTTCTAC	0.423																																					p.R3R		Atlas-SNP	.											.	HTR3A	93	.	0			c.G9A						PASS	.						167	137	146					11																	113848285		692	1591	2283	SO:0001627	intron_variant	3359	exon1			GCATAGGTCCTTT	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.68-208G>A	11.37:g.113848285G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	63	24	0.380952	NM_001161772	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37																																																																																				.	.	none		0.423	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113848285	G	A	113848285	1	1	21	0	1	0	0	0	0	0	0	0	7444	1252	44	2		2	HTR3A	11	113848285	Intron	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1776823	113848285	21158231	156	5030										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	8	4	1	4	rs142812088		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																					p.F107F		Atlas-SNP	.											OR8B3,NS,carcinoma,0,1	OR8B3	36	1	0			c.T321C						scavenged	.						78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			GATGACAAAAAAG	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G		Somatic	288	13	0.0451389		WXS	Illumina HiSeq	Phase_I	234	10	0.042735	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	21	1	0	0	0	0	0	0	0	1	11228	127	5	2		2	OR8B3	11	124266927	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	10418642	124266927	10739589	157	5031										
PATE1	160065	hgsc.bcm.edu	37	chr11	125616559	125616559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctttttttttccaacagcatTatctggatcactttcaatga	4	9	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:125616559T>C	ENST00000305738.5	+	2	68	c.56T>C	c.(55-57)tTa>tCa	p.L19S	PATE1_ENST00000437148.2_Missense_Mutation_p.L19S	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	19						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CCAACAGCATTATCTGGATCA	0.418																																					p.L19S		Atlas-SNP	.											.	PATE1	21	.	0			c.T56C						PASS	.						132	132	132					11																	125616559		2201	4299	6500	SO:0001583	missense	160065	exon2			CAGCATTATCTGG	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.56T>C	11.37:g.125616559T>C	ENSP00000307164:p.Leu19Ser	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	128	44	0.34375	NM_138294	Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	T	3.058	-0.193988	0.06259	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.31247	1.5;1.5	3.7	0.0174	0.14112	.	1.465370	0.05162	N	0.498016	T	0.19327	0.0464	N	0.12182	0.205	0.09310	N	1	P;P	0.47762	0.739;0.9	B;P	0.44477	0.305;0.451	T	0.12167	-1.0558	10	0.72032	D	0.01	-10.9707	3.1939	0.06626	0.0:0.2353:0.2167:0.548	.	19;19	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	S	19	ENSP00000307164:L19S;ENSP00000396056:L19S	ENSP00000307164:L19S	L	+	2	0	PATE1	125121769	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.289000	0.18957	-0.012000	0.14223	0.459000	0.35465	TTA	.	.	none		0.418	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		C	125616559	T	C	125616559	3	2	21	1	0	0	0	0	1	0	0	0	11473	1764	61	2	62	2	PATE1	11	125616559	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	1349632	125616559	9389957	158	5032										
FAM118B	79607	hgsc.bcm.edu	37	chr11	126110774	126110774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agtgctgcagttgcgccccaAgttccagccctcaaatcctg	9	15	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:126110774A>G	ENST00000533050.1	+	4	667	c.174A>G	c.(172-174)caA>caG	p.Q58Q	FAM118B_ENST00000360194.4_Silent_p.Q58Q|FAM118B_ENST00000529731.1_Silent_p.Q58Q|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	58								p.Q58H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTGCGCCCCAAGTTCCAGCCC	0.438																																					p.Q58Q		Atlas-SNP	.											FAM118B,caecum,carcinoma,0,1	FAM118B	29	1	1	Substitution - Missense(1)	large_intestine(1)	c.A174G						scavenged	.						192	206	201					11																	126110774		2201	4299	6500	SO:0001819	synonymous_variant	79607	exon4			GCCCCAAGTTCCA	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.174A>G	11.37:g.126110774A>G		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_024556	Q9H7B0	Silent	SNP	ENST00000533050.1	37	CCDS8470.1																																																																																			.	.	none		0.438	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		G	126110774	A	G	126110774	2	3	21	1	0	0	0	0	0	0	0	1	5412	69	3	3		3	FAM118B	11	126110774	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	494215	126110774	8895742	159	5033										
TIRAP	114609	hgsc.bcm.edu	37	chr11	126162924	126162924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gggccctgatggtggctttcGtcaagtcaaagaagctgtca	13	9	3	2	rs199561634		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:126162924G>A	ENST00000392680.2	+	5	1025	c.620G>A	c.(619-621)cGt>cAt	p.R207H	TIRAP_ENST00000392679.1_Missense_Mutation_p.R207H|RP11-712L6.7_ENST00000533378.1_RNA|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392678.3_Missense_Mutation_p.R207H	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	207	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GGTGGCTTTCGTCAAGTCAAA	0.537																																					p.R207H		Atlas-SNP	.											.	TIRAP	37	.	0			c.G620A						PASS	.						57	62	60					11																	126162924		2193	4291	6484	SO:0001583	missense	114609	exon5			GCTTTCGTCAAGT	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.620G>A	11.37:g.126162924G>A	ENSP00000376447:p.Arg207His	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	77	36	0.467532	NM_148910	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365402	0.24684	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.02472	4.28;4.28;4.28	5.83	-9.57	0.00562	Toll/interleukin-1 receptor homology (TIR) domain (1);	1.158350	0.06092	N	0.663909	T	0.02267	0.0070	L	0.31294	0.92	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.01281	0.0;0.0	T	0.43327	-0.9398	9	.	.	.	-12.1802	13.0157	0.58754	0.2329:0.0818:0.6853:0.0	.	207;207	P58753;Q56UH9	TIRAP_HUMAN;.	H	207	ENSP00000376446:R207H;ENSP00000376445:R207H;ENSP00000376447:R207H	.	R	+	2	0	TIRAP	125668134	0.000000	0.05858	0.284000	0.24805	0.924000	0.55760	-0.924000	0.03996	-1.520000	0.01773	-0.290000	0.09829	CGT	G|0.999;A|0.001	0.001	weak		0.537	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		A	126162924	G	A	126162924	3	1	21	1	0	0	0	0	1	0	0	0	15924	1145	40	1	626	1	TIRAP	11	126162924	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	52150	126162924	8843592	160	5034										
ETS1	2113	hgsc.bcm.edu	37	chr11	128442997	128442997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgagtaagggacggggctgCtcccagcagaatccacaaag	13	11	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr11:128442997C>T	ENST00000392668.4	-	2	113	c.29G>A	c.(28-30)aGc>aAc	p.S10N	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GACGGGGCTGCTCCCAGCAGA	0.577																																					p.S10N		Atlas-SNP	.											.	ETS1	123	.	0			c.G29A						PASS	.						46	53	51					11																	128442997		1565	3577	5142	SO:0001583	missense	2113	exon2			GGGCTGCTCCCAG		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.29G>A	11.37:g.128442997C>T	ENSP00000376436:p.Ser10Asn	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_001143820	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693001	0.30052	.	.	ENSG00000134954	ENST00000392668	T	0.12569	2.67	5.25	3.4	0.38934	.	0.224065	0.36034	N	0.002835	T	0.08313	0.0207	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	0.24483	T	0.36	.	7.9729	0.30138	0.0:0.8177:0.0:0.1823	.	10	Q6N087	.	N	10	ENSP00000376436:S10N	ENSP00000376436:S10N	S	-	2	0	ETS1	127948207	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	1.224000	0.32539	0.915000	0.36847	-0.136000	0.14681	AGC	.	.	none		0.577	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		T	128442997	C	T	128442997	3	4	21	1	0	0	0	0	1	0	0	0	5275	797	28	2	1550	2	ETS1	11	128442997	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	2280073	128442997	6563519	161	5035										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588444	10588444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cccttgatgattcagggaagGattttgaagatttaattcta	9	5	2	4	rs111237999	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:10588444G>C	ENST00000539033.1	-	1	156	c.142C>G	c.(142-144)Cct>Gct	p.P48A	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.P48A|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48A																							TTCAGGGAAGGATTTTGAAGA	0.363													G|||	125	0.0249601	0.0386	0.0101	5008	,	,		16153	0.0298		0.0268	False		,,,				2504	0.0102				p.P48A		Atlas-SNP	.											KLRC2,NS,carcinoma,+1,1	KLRC2	29	1	0			c.C142G						scavenged	.						94	104	101					12																	10588444		1994	3988	5982	SO:0001583	missense	3822	exon1			GGGAAGGATTTTG																												ENST00000539033.1:c.142C>G	12.37:g.10588444G>C	ENSP00000437563:p.Pro48Ala	Somatic	287	17	0.0592334		WXS	Illumina HiSeq	Phase_I	234	21	0.0897436	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.662523	0.00107	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.04119	3.7;3.7;3.7	2.57	-1.4	0.08968	.	0.714893	0.12708	N	0.445758	T	0.01222	0.0040	N	0.00637	-1.305	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46925	-0.9156	10	0.02654	T	1	.	9.8776	0.41213	0.0:0.3246:0.6754:0.0	rs34194304	34;48;48	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	A	48	ENSP00000437563:P48A;ENSP00000371327:P48A;ENSP00000371326:P48A	ENSP00000371326:P48A	P	-	1	0	KLRC2;RP11-277P12.6	10479711	0.000000	0.05858	0.020000	0.16555	0.010000	0.07245	-0.911000	0.04050	-0.034000	0.13713	-1.406000	0.01132	CCT	.	.	weak		0.363	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			C	10588444	G	C	10588444	3	2	21	1	0	0	0	0	1	0	0	0	8416	1174	41	4	577	4	KLRC2	12	10588444	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		10588444	123263451	162	5036										
PRB2	653247	hgsc.bcm.edu	37	chr12	11545937	11545937	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctttcctggaggagatcgggCacttcgggacttgctgcctc	13	12	0	1	rs367874175	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:11545937C>G	ENST00000389362.4	-	3	1110	c.1075G>C	c.(1075-1077)Gcc>Ccc	p.A359P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	359	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATCGGGCACTTCGGGAC	0.602																																					p.A359P		Atlas-SNP	.											PRB2_ENST00000389362,brain,glioma,0,2	PRB2	168	2	0			c.G1075C						scavenged	.						206	230	222					12																	11545937		2203	4300	6503	SO:0001583	missense	653247	exon3			ATCGGGCACTTCG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1075G>C	12.37:g.11545937C>G	ENSP00000374013:p.Ala359Pro	Somatic	654	7	0.0107034		WXS	Illumina HiSeq	Phase_I	377	7	0.0185676	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.864195	0.00552	.	.	ENSG00000121335	ENST00000389362	T	0.03358	3.96	0.862	-1.72	0.08107	.	.	.	.	.	T	0.01387	0.0045	N	0.01705	-0.755	0.09310	N	1	B	0.20780	0.048	B	0.19391	0.025	T	0.46048	-0.9219	9	0.27785	T	0.31	.	4.4192	0.11472	0.3727:0.6273:0.0:0.0	.	359	P02812	PRB2_HUMAN	P	359	ENSP00000374013:A359P	ENSP00000374013:A359P	A	-	1	0	PRB2	11437204	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-2.967000	0.00669	-1.539000	0.01732	-1.549000	0.00901	GCC	.	.	weak		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		G	11545937	C	G	11545937	3	3	21	1	0	0	0	0	1	0	0	0	12443	710	25	4	179	4	PRB2	12	11545937	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	957493	11545937	122305958	163	5037										
MLL2	8085	hgsc.bcm.edu	37	chr12	49433749	49433750	+	Frame_Shift_Del	DEL	CT	CT	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggacagcccatagctctcccCtgtggacccgctgctgggcc							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:49433749_49433750delCT	ENST00000301067.7	-	31	7802_7803	c.7803_7804delAG	c.(7801-7806)acagggfs	p.G2602fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2602	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TAGCTCTCCCCTGTGGACCCGC	0.663																																					p.2602_2602del		Pindel,Atlas-Indel	.											.	MLL2	1173	.	0			c.7804_7805del						PASS	.																																			SO:0001589	frameshift_variant	8085	exon31			.	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7803_7804delAG	12.37:g.49433749_49433750delCT	ENSP00000301067:p.Gly2602fs	Somatic	85	.	.		WXS	Illumina HiSeq	Phase_I	54	18	0.333	NM_003482	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.	.	none		0.663	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49433750	CT	-	49433749	7	5	21	1	0	1	0	1	0	0	0	0	9621	681	24	0	8905	0	MLL2	12	49433749	Frame_Shift_Del	DEL	CT	TCGA-FM-8000-01A-11D-2210-10	37887812	49433749	84418146	164	5038										
PRPF40B	25766	hgsc.bcm.edu	37	chr12	50026835	50026835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	catgtggccccagatgggcgCatctactactacaatgctga	10	12	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:50026835C>T	ENST00000380281.1	+	6	385	c.321C>T	c.(319-321)cgC>cgT	p.R107R	PRPF40B_ENST00000261897.1_Silent_p.R101R|PRPF40B_ENST00000548825.2_Silent_p.R129R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	107	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGATGGGCGCATCTACTACT	0.612																																					p.R129R		Atlas-SNP	.											.	PRPF40B	83	.	0			c.C387T						PASS	.						35	31	32					12																	50026835		2203	4299	6502	SO:0001819	synonymous_variant	25766	exon7			TGGGCGCATCTAC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.321C>T	12.37:g.50026835C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	61	17	0.278689	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37																																																																																				.	.	none		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50026835	C	T	50026835	2	4	21	1	0	0	0	0	0	0	0	1	12572	697	25	2		2	PRPF40B	12	50026835	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	593086	50026835	83825060	165	5039										
R3HDM2	22864	hgsc.bcm.edu	37	chr12	57690294	57690294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tacccggtgtaatagcatccGgtgatatgaggtcatctgag	12	8	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:57690294G>A	ENST00000347140.3	-	9	991	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	RP11-123K3.4_ENST00000548184.1_5'Flank|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R201W|R3HDM2_ENST00000413953.2_5'Flank|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R201W|R3HDM2_ENST00000402412.1_Missense_Mutation_p.R201W			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	201	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AATAGCATCCGGTGATATGAG	0.408																																					p.R201W		Atlas-SNP	.											.	R3HDM2	125	.	0			c.C601T						PASS	.						118	92	100					12																	57690294		692	1591	2283	SO:0001583	missense	22864	exon7			GCATCCGGTGATA	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.601C>T	12.37:g.57690294G>A	ENSP00000317903:p.Arg201Trp	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	69	17	0.246377	NM_014925	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185177	0.78677	.	.	ENSG00000179912	ENST00000347140;ENST00000402412;ENST00000358907;ENST00000403821;ENST00000547262	D;D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42;-5.42	4.79	4.79	0.61399	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98758	1.0723	9	.	.	.	-20.0351	10.7182	0.46026	0.0:0.0:0.7054:0.2946	.	201;201	B5MCU0;Q9Y2K5	.;R3HD2_HUMAN	W	201;201;201;201;89	ENSP00000317903:R201W;ENSP00000385839:R201W;ENSP00000351784:R201W;ENSP00000385169:R201W;ENSP00000450411:R89W	.	R	-	1	2	R3HDM2	55976561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.007000	0.49536	2.653000	0.90120	0.655000	0.94253	CGG	.	.	none		0.408	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		A	57690294	G	A	57690294	3	1	21	1	0	0	0	0	1	0	0	0	12888	1115	39	1	2393	1	R3HDM2	12	57690294	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	7663459	57690294	76161601	166	5040										
CEP290	80184	hgsc.bcm.edu	37	chr12	88483187	88483187	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	attgactccaacttaccaagAgcagtagcctcactcagttg	7	12	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:88483187A>G	ENST00000552810.1	-	31	3994	c.3651T>C	c.(3649-3651)gcT>gcC	p.A1217A	CEP290_ENST00000397838.3_Silent_p.A277A|CEP290_ENST00000547691.2_Silent_p.A277A|CEP290_ENST00000309041.7_Silent_p.A1219A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1217					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ACTTACCAAGAGCAGTAGCCT	0.393																																					p.A1217A		Atlas-SNP	.											.	CEP290	195	.	0			c.T3651C						PASS	.						54	52	52					12																	88483187		1885	4119	6004	SO:0001819	synonymous_variant	80184	exon31			ACCAAGAGCAGTA	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3651T>C	12.37:g.88483187A>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	CCDS55858.1																																																																																			.	.	none		0.393	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		G	88483187	A	G	88483187	2	3	21	1	0	0	0	0	0	0	0	1	3253	291	11	3		3	CEP290	12	88483187	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	30792893	88483187	45368708	167	5041										
TMPO	7112	hgsc.bcm.edu	37	chr12	98931352	98931352	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aagagttgagcacaatcaggTatctttagttttattaccac	7	7	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:98931352T>C	ENST00000556029.1	+	4	1019		c.e4+2		TMPO_ENST00000343315.5_Splice_Site|TMPO_ENST00000393053.2_Splice_Site|TMPO_ENST00000261210.5_Missense_Mutation_p.V222A	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACAATCAGGTATCTTTAGTT	0.413																																					.		Atlas-SNP	.											.	TMPO	111	.	0			c.663+2T>C						PASS	.						95	88	90					12																	98931352		2203	4300	6503	SO:0001630	splice_region_variant	7112	exon4			ATCAGGTATCTTT		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.663+2T>C	12.37:g.98931352T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	68	27	0.397059	NM_001032284	A2T926|Q14861	Splice_Site	SNP	ENST00000556029.1	37	CCDS31879.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.038827|4.038827	0.75617|0.75617	.|.	.|.	ENSG00000120802|ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678|ENST00000261210	.|T	.|0.75589	.|-0.95	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|D	.|0.85754	.|0.5770	.|.	.|.	.|.	0.30616|0.30616	N|N	0.759|0.759	.|D	.|0.69078	.|0.997	.|D	.|0.72625	.|0.978	.|D	.|0.84747	.|0.0754	.|7	.|.	.|.	.|.	.|.	16.0796|16.0796	0.80995|0.80995	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|222	.|A2T926	.|.	.|A	-1|222	.|ENSP00000261210:V222A	.|.	.|V	+|+	.|2	.|0	TMPO|TMPO	97455483|97455483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	5.448000|5.448000	0.66612|0.66612	2.195000|2.195000	0.70347|0.70347	0.528000|0.528000	0.53228|0.53228	.|GTA	.	.	none		0.413	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	Intron	C	98931352	T	C	98931352	5	2	21	1	0	0	0	0	0	0	1	0	16234	1652	57	2	2203	2	TMPO	12	98931352	Splice_Site	SNP	T	TCGA-FM-8000-01A-11D-2210-10	10448165	98931352	34920543	168	5042										
KSR2	283455	hgsc.bcm.edu	37	chr12	117962801	117962801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccctctcaatgtcaatcagcCggatggccacctcgccatgc	8	17	3	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr12:117962801C>T	ENST00000339824.5	-	14	2802	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	KSR2_ENST00000425217.1_Missense_Mutation_p.R663Q|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R389Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCAATCAGCCGGATGGCCAC	0.597																																					p.R663Q		Atlas-SNP	.											.	KSR2	208	.	0			c.G1988A						PASS	.						54	58	56					12																	117962801		2111	4213	6324	SO:0001583	missense	283455	exon14			ATCAGCCGGATGG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2075G>A	12.37:g.117962801C>T	ENSP00000339952:p.Arg692Gln	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_173598	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	C	28.4	4.917300	0.92249	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89681	-2.55;-2.55;-2.55	4.98	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	L	0.48362	1.52	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.92456	0.5974	10	0.72032	D	0.01	.	13.6616	0.62370	0.0:0.9254:0.0:0.0746	.	692	Q6VAB6	KSR2_HUMAN	Q	663;692;389;364	ENSP00000389715:R663Q;ENSP00000339952:R692Q;ENSP00000305466:R389Q	ENSP00000305466:R389Q	R	-	2	0	KSR2	116447184	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.933000	0.70130	1.328000	0.45358	-0.143000	0.13931	CGG	.	.	none		0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	117962801	C	T	117962801	3	4	21	1	0	0	0	0	1	0	0	0	8582	652	23	1	805	1	KSR2	12	117962801	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	19031449	117962801	15889094	169	5043										
MBNL2	10150	hgsc.bcm.edu	37	chr13	97928659	97928660	+	Frame_Shift_Ins	INS	-	-	AA													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	attgcctgctttgattccctINSaaaggtaagagaatgcgttt					rs139620750		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr13:97928659_97928660insAA	ENST00000376673.3	+	2	951_952	c.170_171insAA	c.(169-174)ctaaagfs	p.LK57fs	MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.LK57fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.LK57fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.LK57fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.LK57fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	57					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TTTGATTCCCTAAAGGTAAGAG	0.371																																					p.L57fs		Pindel,Atlas-Indel	.											.	MBNL2	84	.	0			c.170_171insAA						PASS	.																																			SO:0001589	frameshift_variant	10150	exon2			.	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.171_172dupAA	13.37:g.97928660_97928661dupAA	ENSP00000365861:p.Leu57fs	Somatic	147	.	.		WXS	Illumina HiSeq	Phase_I	106	37	0.349	NM_207304	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37																																																																																				.	.	none		0.371	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		AA	97928660	-	AA	97928659	7	5	21	1	0	1	1	0	0	0	0	0	9354	1522	53	0	172	0	MBNL2	13	97928659	Frame_Shift_Ins	INS	-	TCGA-FM-8000-01A-11D-2210-10		97928659	17241219	170	5044										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103515306	103515306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cagtagataatgtggaaaatGtggtgtcatttaatgctaaa	10	3	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr13:103515306G>A	ENST00000355739.4	+	8	3230	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C1028Y	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	603					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGTGGAAAATGTGGTGTCATT	0.408			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.V1057M		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.G3169A						PASS	.						79	76	77					13																	103515306		2203	4300	6503	SO:0001583	missense	0	exon16	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GAAAATGTGGTGT	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1807G>A	13.37:g.103515306G>A	ENSP00000347978:p.Val603Met	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	95	30	0.315789	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058536	0.55325	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.05081	3.5	5.72	4.01	0.46588	.	1.630770	0.03085	N	0.158987	T	0.10723	0.0262	L	0.43152	1.355	0.09310	N	0.999999	P;P;P	0.46395	0.868;0.744;0.877	P;B;B	0.45506	0.483;0.31;0.365	T	0.26155	-1.0111	10	0.40728	T	0.16	-0.086	7.6996	0.28615	0.2635:0.0:0.7365:0.0	.	603;603;1028	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	M	1028;603;435	ENSP00000347978:V603M	ENSP00000347978:V603M	V	+	1	0	ERCC5	102313307	0.000000	0.05858	0.002000	0.10522	0.455000	0.32408	0.187000	0.16998	0.791000	0.33826	-0.186000	0.12905	GTG	.	.	none		0.408	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103515306	G	A	103515306	3	1	21	1	0	0	0	0	1	0	0	0	5216	1377	48	2	1837	2	ERCC5	13	103515306	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	5586647	103515306	11654572	171	5045										
C14orf28	122525	hgsc.bcm.edu	37	chr14	45370114	45370114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gagttactgttccaactggcGatgcccaactcgagtgcagg	12	11	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:45370114G>A	ENST00000325192.3	+	2	751	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	C14orf28_ENST00000557112.1_Missense_Mutation_p.R159Q|C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159								p.R159L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TCCAACTGGCGATGCCCAACT	0.343																																					p.R159Q		Atlas-SNP	.											C14orf28,NS,carcinoma,0,1	C14orf28	32	1	1	Substitution - Missense(1)	lung(1)	c.G476A						PASS	.						70	72	72					14																	45370114		2203	4300	6503	SO:0001583	missense	122525	exon2			ACTGGCGATGCCC	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.476G>A	14.37:g.45370114G>A	ENSP00000326846:p.Arg159Gln	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	85	31	0.364706	NM_001017923		Missense_Mutation	SNP	ENST00000325192.3	37	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173338	0.38413	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.30714	1.52;1.52	5.86	4.96	0.65561	.	0.227351	0.44285	D	0.000467	T	0.12433	0.0302	N	0.08118	0	0.27714	N	0.945356	P	0.37176	0.586	B	0.21360	0.034	T	0.09907	-1.0653	10	0.40728	T	0.16	.	9.7082	0.40229	0.1595:0.0:0.8405:0.0	.	159	Q4W4Y0	CN028_HUMAN	Q	159	ENSP00000326846:R159Q;ENSP00000451791:R159Q	ENSP00000326846:R159Q	R	+	2	0	C14orf28	44439864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.525000	0.53502	1.592000	0.50018	0.650000	0.86243	CGA	.	.	none		0.343	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		A	45370114	G	A	45370114	3	1	21	1	0	0	0	0	1	0	0	0	1770	1058	37	1	478	1	C14orf28	14	45370114	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10		45370114	61979426	172	5046										
PRPF39	55015	hgsc.bcm.edu	37	chr14	45579854	45579854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aagtttagaacgacggcatgGaaatctggaagaagctgaac	12	6	1	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:45579854G>A	ENST00000355765.6	+	10	1576	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	469					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CGACGGCATGGAAATCTGGAA	0.368																																					p.G469E		Atlas-SNP	.											.	PRPF39	46	.	0			c.G1406A						PASS	.						46	39	41					14																	45579854		2202	4299	6501	SO:0001583	missense	55015	exon10			GGCATGGAAATCT	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1406G>A	14.37:g.45579854G>A	ENSP00000348010:p.Gly469Glu	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	135	62	0.459259	NM_017922	Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510464	0.85389	.	.	ENSG00000185246	ENST00000355765	T	0.38722	1.12	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.844	T	0.59579	-0.7428	10	0.09843	T	0.71	-13.7778	19.0642	0.93103	0.0:0.0:1.0:0.0	.	73;469	Q86UA1-2;Q86UA1	.;PRP39_HUMAN	E	469	ENSP00000348010:G469E	ENSP00000348010:G469E	G	+	2	0	PRPF39	44649604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.607000	0.88179	0.563000	0.77884	GGA	.	.	none		0.368	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			A	45579854	G	A	45579854	3	1	21	1	0	0	0	0	1	0	0	0	12569	1174	41	2	1440	2	PRPF39	14	45579854	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	209740	45579854	61769686	173	5047										
MAP4K5	11183	hgsc.bcm.edu	37	chr14	50901153	50901153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atgaagatgcagagttcaaaTtgattgtctcaaactgaact	8	6	2	5			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:50901153T>C	ENST00000013125.4	-	27	2441	c.2123A>G	c.(2122-2124)aAt>aGt	p.N708S		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	708	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AGAGTTCAAATTGATTGTCTC	0.348																																					p.N708S		Atlas-SNP	.											.	MAP4K5	48	.	0			c.A2123G						PASS	.						85	73	77					14																	50901153		1864	4096	5960	SO:0001583	missense	11183	exon27			TTCAAATTGATTG	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2123A>G	14.37:g.50901153T>C	ENSP00000013125:p.Asn708Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_006575	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222735	0.79464	.	.	ENSG00000012983	ENST00000013125	T	0.05025	3.51	4.96	4.96	0.65561	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.79108	0.958;0.992	T	0.03662	-1.1015	10	0.62326	D	0.03	.	14.6592	0.68858	0.0:0.0:0.0:1.0	.	708;708	B2R928;Q9Y4K4	.;M4K5_HUMAN	S	708	ENSP00000013125:N708S	ENSP00000013125:N708S	N	-	2	0	MAP4K5	49970903	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	1.861000	0.53984	0.454000	0.30748	AAT	.	.	none		0.348	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		C	50901153	T	C	50901153	3	2	21	1	0	0	0	0	1	0	0	0	9263	1493	52	2	441	2	MAP4K5	14	50901153	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	5321299	50901153	56448387	174	5048										
SMOC1	64093	hgsc.bcm.edu	37	chr14	70459149	70459149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttcagatgacgggtctaagcCgacacccacgatggagaccc	11	13	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:70459149C>T	ENST00000381280.4	+	6	795	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SMOC1_ENST00000361956.3_Missense_Mutation_p.P181L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	181					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGGTCTAAGCCGACACCCACG	0.438																																					p.P181L		Atlas-SNP	.											.	SMOC1	61	.	0			c.C542T						PASS	.						146	147	146					14																	70459149		2203	4300	6503	SO:0001583	missense	64093	exon6			CTAAGCCGACACC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.542C>T	14.37:g.70459149C>T	ENSP00000370680:p.Pro181Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	79	4	0.0506329	NM_001034852	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912646	0.72983	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57273	0.41;0.41	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.29908	0.895	0.80722	D	1	P;D	0.89917	0.519;1.0	B;D	0.85130	0.175;0.997	T	0.52305	-0.8593	10	0.11485	T	0.65	-15.2578	18.9026	0.92449	0.0:1.0:0.0:0.0	.	181;181	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	L	181	ENSP00000355110:P181L;ENSP00000370680:P181L	ENSP00000355110:P181L	P	+	2	0	SMOC1	69528902	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.703000	0.84585	2.478000	0.83669	0.555000	0.69702	CCG	.	.	none		0.438	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			T	70459149	C	T	70459149	3	4	21	1	0	0	0	0	1	0	0	0	14801	652	23	1	564	1	SMOC1	14	70459149	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	19557996	70459149	36890391	175	5049										
SIPA1L1	26037	hgsc.bcm.edu	37	chr14	72190600	72190600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgtgggatttatggacacgaGaaagtaagagttactttcct	11	6	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:72190600G>A	ENST00000555818.1	+	16	4856	c.4508G>A	c.(4507-4509)aGa>aAa	p.R1503K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R957K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1482K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1482K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1503					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGGACACGAGAAAGTAAGAG	0.473																																					p.R1503K		Atlas-SNP	.											.	SIPA1L1	219	.	0			c.G4508A						PASS	.						62	69	67					14																	72190600		2203	4300	6503	SO:0001583	missense	26037	exon16			ACACGAGAAAGTA	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4508G>A	14.37:g.72190600G>A	ENSP00000450832:p.Arg1503Lys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	37	12	0.324324	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041335	0.35989	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.83673	-0.92;-0.91;-0.92;-1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	N	0.16368	0.405	0.80722	D	1	P;P;B;P;B	0.52842	0.885;0.956;0.063;0.942;0.127	P;P;B;P;B	0.62184	0.465;0.899;0.034;0.573;0.161	T	0.77635	-0.2514	10	0.12430	T	0.62	-26.2712	19.4992	0.95086	0.0:0.0:1.0:0.0	.	957;1503;957;1482;1503	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1482;1503;1482;957	ENSP00000370630:R1482K;ENSP00000450832:R1503K;ENSP00000351352:R1482K;ENSP00000440682:R957K	ENSP00000351352:R1503K	R	+	2	0	SIPA1L1	71260353	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.184000	0.94893	2.689000	0.91719	0.655000	0.94253	AGA	.	.	none		0.473	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72190600	G	A	72190600	3	1	21	1	0	0	0	0	1	0	0	0	14329	942	33	2	4566	2	SIPA1L1	14	72190600	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1731451	72190600	35158940	176	5050										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91770135	91770135	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgagggcctcgtactcggccGattgccgctcgtgcagcgtg	15	13	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr14:91770135G>T	ENST00000389857.6	-	20	3631	c.3545C>A	c.(3544-3546)tCg>tAg	p.S1182*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1182					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTACTCGGCCGATTGCCGCTC	0.637																																					p.S1182X		Atlas-SNP	.											CCDC88C_ENST00000389857,caecum,carcinoma,+1,2	CCDC88C	192	2	0			c.C3545A						PASS	.						52	56	55					14																	91770135		2129	4235	6364	SO:0001587	stop_gained	440193	exon20			TCGGCCGATTGCC		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3545C>A	14.37:g.91770135G>T	ENSP00000374507:p.Ser1182*	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	71	29	0.408451	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Nonsense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	44	10.628605	0.99440	.	.	ENSG00000015133	ENST00000389857	.	.	.	5.37	4.47	0.54385	.	0.141481	0.32563	U	0.005935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-16.2203	15.9444	0.79782	0.0:0.1467:0.8533:0.0	.	.	.	.	X	1182	.	ENSP00000374507:S1182X	S	-	2	0	CCDC88C	90839888	1.000000	0.71417	0.851000	0.33527	0.827000	0.46813	7.740000	0.84986	1.376000	0.46267	0.561000	0.74099	TCG	.	.	none		0.637	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91770135	G	T	91770135	4	4	21	1	0	0	0	0	0	1	0	0	2865	1059	37	4	2585	4	CCDC88C	14	91770135	Nonsense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	19579535	91770135	15579405	177	5051										
HERC2	8924	hgsc.bcm.edu	37	chr15	28366537	28366537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gggccatgctgacgatcgcgTaccatagttgcttgtactac	11	11	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:28366537T>C	ENST00000261609.7	-	86	13335	c.13227A>G	c.(13225-13227)gtA>gtG	p.V4409V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACGATCGCGTACCATAGTTG	0.468																																					p.V4409V		Atlas-SNP	.											.	HERC2	501	.	0			c.A13227G						PASS	.						135	124	128					15																	28366537		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon86			ATCGCGTACCATA	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13227A>G	15.37:g.28366537T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.	.	none		0.468	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28366537	T	C	28366537	2	2	21	1	0	0	0	0	0	0	0	1	7058	1625	57	2		2	HERC2	15	28366537	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10		28366537	74164855	178	5052										
HERC2	8924	hgsc.bcm.edu	37	chr15	28483809	28483809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tttatatcatacaccttcccGtcaatcacagtccagaagcc	4	14	3	1	rs149204675	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:28483809G>A	ENST00000261609.7	-	24	3795	c.3687C>T	c.(3685-3687)gaC>gaT	p.D1229D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACACCTTCCCGTCAATCACAG	0.373													G|||	26	0.00519169	0.0129	0.0	5008	,	,		17942	0.0		0.004	False		,,,				2504	0.0051				p.D1229D		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C3687T						scavenged	.						73	68	70					15																	28483809		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon24			CTTCCCGTCAATC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3687C>T	15.37:g.28483809G>A		Somatic	538	5	0.00929368		WXS	Illumina HiSeq	Phase_I	346	5	0.0144509	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.998;A|0.002	0.002	strong		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28483809	G	A	28483809	2	1	21	1	0	0	0	0	0	0	0	1	7058	1136	40	1		1	HERC2	15	28483809	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	117272	28483809	74047583	179	5053										
B2M	567	hgsc.bcm.edu	37	chr15	45007681	45007681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gaatggaaagtcaaatttccTgaattgctatgtgtctgggt	11	5	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:45007681T>G	ENST00000558401.1	+	2	198	c.128T>G	c.(127-129)cTg>cGg	p.L43R	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.L43R|B2M_ENST00000544417.1_Missense_Mutation_p.L43R	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	43	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L43P(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCAAATTTCCTGAATTGCTAT	0.408																																					p.L43R		Atlas-SNP	.											B2M,colon,carcinoma,0,2	B2M	99	2	1	Substitution - Missense(1)	breast(1)	c.T128G						PASS	.						176	180	178					15																	45007681		2198	4298	6496	SO:0001583	missense	567	exon2			ATTTCCTGAATTG	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.128T>G	15.37:g.45007681T>G	ENSP00000452780:p.Leu43Arg	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	81	67	0.82716	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001047	0.74818	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.22539	1.95	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.595751	0.18761	N	0.131892	T	0.63954	0.2555	H	0.98594	4.275	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76777	-0.2834	10	0.87932	D	0	.	12.95	0.58394	0.0:0.0:0.0:1.0	.	43;43;43	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	R	43	ENSP00000437604:L43R	ENSP00000340858:L43R	L	+	2	0	B2M	42794973	0.971000	0.33674	0.101000	0.21167	0.672000	0.39443	4.264000	0.58859	2.308000	0.77769	0.533000	0.62120	CTG	.	.	none		0.408	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		G	45007681	T	G	45007681	3	3	21	1	0	0	0	0	1	0	0	0	1244	1580	55	5	134	5	B2M	15	45007681	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	16523872	45007681	57523711	180	5054										
B2M	567	hgsc.bcm.edu	37	chr15	45007710	45007710	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atgtgtctgggtttcatccaTccgacattgaagttgactta	9	8	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:45007710T>A	ENST00000558401.1	+	2	227	c.157T>A	c.(157-159)Tcc>Acc	p.S53T	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.S53T|B2M_ENST00000544417.1_Missense_Mutation_p.S53T	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	53	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTTTCATCCATCCGACATTGA	0.403																																					p.S53T		Atlas-SNP	.											B2M,colon,carcinoma,-2,1	B2M	99	1	0			c.T157A						PASS	.						187	191	189					15																	45007710		2198	4298	6496	SO:0001583	missense	567	exon2			CATCCATCCGACA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.157T>A	15.37:g.45007710T>A	ENSP00000452780:p.Ser53Thr	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	103	87	0.84466	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065633	0.36470	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.09073	3.02	6.03	4.15	0.48705	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.101727	0.64402	D	0.000001	T	0.13798	0.0334	L	0.52573	1.65	0.26086	N	0.981025	P;P;B	0.38992	0.653;0.594;0.302	B;P;B	0.47645	0.418;0.553;0.173	T	0.04360	-1.0957	10	0.87932	D	0	.	8.9614	0.35849	0.0:0.8383:0.0:0.1617	.	53;53;53	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	T	53	ENSP00000437604:S53T	ENSP00000340858:S53T	S	+	1	0	B2M	42795002	0.901000	0.30685	0.893000	0.35052	0.090000	0.18270	2.330000	0.43885	0.866000	0.35629	-0.912000	0.02778	TCC	.	.	none		0.403	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		A	45007710	T	A	45007710	3	1	21	1	0	0	0	0	1	0	0	0	1244	1435	50	5	163	5	B2M	15	45007710	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	29	45007710	57523682	181	5055										
SLC12A1	6557	hgsc.bcm.edu	37	chr15	48521429	48521429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	agaagtttagggcccgagttCggtgggtcaataggcctgat	15	7	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:48521429C>T	ENST00000558405.1	+	5	782	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Silent_p.F256F|SLC12A1_ENST00000380993.3_Silent_p.F256F|SLC12A1_ENST00000330289.6_Silent_p.F256F			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	256					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCCCGAGTTCGGTGGGTCAA	0.418																																					p.F256F		Atlas-SNP	.											SLC12A1_ENST00000396577,NS,carcinoma,0,2	SLC12A1	243	2	0			c.C768T						scavenged	.						142	125	131					15																	48521429		2198	4297	6495	SO:0001819	synonymous_variant	6557	exon6			CGAGTTCGGTGGG		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.768C>T	15.37:g.48521429C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	179	4	0.0223464	NM_001184832	A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	CCDS10129.2																																																																																			.	.	none		0.418	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			T	48521429	C	T	48521429	2	4	21	1	0	0	0	0	0	0	0	1	14382	883	31	1		1	SLC12A1	15	48521429	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	3513719	48521429	54009963	182	5056										
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		Atlas-SNP	.											.	KBTBD13	9	.	0			c.C242T						PASS	.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001101362		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.451;T|0.549	0.549	strong		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	21	1	0	0	0	0	1	0	0	0	7992	739	26	2	244	2	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	16847966	65369395	37161997	183	5057										
UNKL	64718	hgsc.bcm.edu	37	chr16	1417803	1417803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	actcaggatgggggaggggcTgggggagaagctgccggaaa	21	6	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:1417803T>C	ENST00000389221.4	-	13	1632	c.1633A>G	c.(1633-1635)Agc>Ggc	p.S545G	UNKL_ENST00000402641.2_Missense_Mutation_p.S47G|UNKL_ENST00000391893.2_Missense_Mutation_p.S44G|UNKL_ENST00000508903.2_Missense_Mutation_p.S548G|UNKL_ENST00000397464.1_Missense_Mutation_p.S47G|UNKL_ENST00000248104.7_Missense_Mutation_p.S44G|UNKL_ENST00000403703.1_Missense_Mutation_p.S47G	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	545	Ser-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGGGAGGGGCTGGGGGAGAAG	0.652																																					p.S548G		Atlas-SNP	.											.	UNKL	46	.	0			c.A1642G						PASS	.						9	9	9					16																	1417803		2180	4274	6454	SO:0001583	missense	64718	exon13			AGGGGCTGGGGGA	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1633A>G	16.37:g.1417803T>C	ENSP00000373873:p.Ser545Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	127	73	0.574803	NM_001193388	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	t	16.06	3.015598	0.54468	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903;ENST00000513783	T;T	0.68331	-0.22;-0.32	4.67	4.67	0.58626	.	.	.	.	.	T	0.74566	0.3733	L	0.49455	1.56	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.982	P;D;D	0.85130	0.836;0.997;0.952	T	0.71130	-0.4682	9	0.23891	T	0.37	.	12.1563	0.54079	0.0:0.0:0.0:1.0	.	545;44;548	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	G	44;545;47;44;47;47;548;47	ENSP00000373873:S545G;ENSP00000380606:S47G	ENSP00000248104:S44G	S	-	1	0	UNKL	1357804	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	5.503000	0.66962	1.760000	0.52011	0.445000	0.29226	AGC	.	.	none		0.652	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		C	1417803	T	C	1417803	3	2	21	1	0	0	0	0	1	0	0	0	16998	1580	55	3	571	3	UNKL	16	1417803	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10		1417803	88936950	184	5058										
KREMEN2	79412	hgsc.bcm.edu	37	chr16	3014557	3014557	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgcagggcttcctctttctCctcttcctcccgctgctgca	7	18	3	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:3014557C>T	ENST00000303746.5	+	1	613	c.36C>T	c.(34-36)ctC>ctT	p.L12L	KREMEN2_ENST00000319500.6_Silent_p.L12L|KREMEN2_ENST00000571007.1_Silent_p.L12L|KREMEN2_ENST00000575885.1_Silent_p.L12L|KREMEN2_ENST00000575769.1_Silent_p.L12L|KREMEN2_ENST00000572045.1_Silent_p.L12L			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	12					Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TCCTCTTTCTCCTCTTCCTCC	0.687																																					p.L12L		Atlas-SNP	.											.	KREMEN2	13	.	0			c.C36T						PASS	.						58	63	61					16																	3014557		2198	4300	6498	SO:0001819	synonymous_variant	79412	exon1			CTTTCTCCTCTTC	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.36C>T	16.37:g.3014557C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	136	35	0.257353	NM_001253725	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP	ENST00000303746.5	37	CCDS10483.1																																																																																			.	.	none		0.687	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		T	3014557	C	T	3014557	2	4	21	1	0	0	0	0	0	0	0	1	8443	842	30	2		2	KREMEN2	16	3014557	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1596754	3014557	87340196	185	5059										
ADCY9	115	hgsc.bcm.edu	37	chr16	4016487	4016487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgcgcggtgttcagccctgaCgccgccatgtacgtggctcc	13	15	1	1	rs371159341		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:4016487C>T	ENST00000294016.3	-	11	3889	c.3351G>A	c.(3349-3351)gcG>gcA	p.A1117A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1117	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCAGCCCTGACGCCGCCATGT	0.617																																					p.A1117A		Atlas-SNP	.											.	ADCY9	151	.	0			c.G3351A						PASS	.	C		0,4394		0,0,2197	87	75	79		3351	-10.2	0.1	16		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		1117/1354	4016487	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	115	exon11			CCCTGACGCCGCC	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3351G>A	16.37:g.4016487C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	76	20	0.263158	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			.	.	weak		0.617	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4016487	C	T	4016487	2	4	21	1	0	0	0	0	0	0	0	1	301	523	19	1		1	ADCY9	16	4016487	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1001930	4016487	86338266	186	5060										
ITPRIPL2	162073	hgsc.bcm.edu	37	chr16	19126354	19126354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgcttgtggcgctggagccaCggagcctgggcgaggagcca	18	12	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:19126354C>T	ENST00000381440.3	+	1	1101	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	191						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTGGAGCCACGGAGCCTGGG	0.716											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R191W		Atlas-SNP	.											.	ITPRIPL2	40	.	0			c.C571T						PASS	.						9	13	11					16																	19126354		2072	4098	6170	SO:0001583	missense	162073	exon1			GAGCCACGGAGCC		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.571C>T	16.37:g.19126354C>T	ENSP00000370849:p.Arg191Trp	Somatic	5	0	0	730	WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001034841		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301907	0.60195	.	.	ENSG00000205730	ENST00000381440	T	0.15603	2.41	4.67	3.67	0.42095	.	0.000000	0.29508	U	0.011950	T	0.25044	0.0608	N	0.24115	0.695	0.37413	D	0.913301	D	0.89917	1.0	D	0.66979	0.948	T	0.14783	-1.0460	10	0.59425	D	0.04	-13.6348	12.7941	0.57551	0.1644:0.8356:0.0:0.0	.	191	Q3MIP1	IPIL2_HUMAN	W	191	ENSP00000370849:R191W	ENSP00000370849:R191W	R	+	1	2	ITPRIPL2	19033855	0.145000	0.22656	0.938000	0.37757	0.804000	0.45430	1.856000	0.39389	2.137000	0.66172	0.655000	0.94253	CGG	.	.	none		0.716	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		T	19126354	C	T	19126354	3	4	21	1	0	0	0	0	1	0	0	0	7925	527	19	1	573	1	ITPRIPL2	16	19126354	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	15109867	19126354	71228399	187	5061										
TBC1D10B	26000	hgsc.bcm.edu	37	chr16	30369466	30369486	+	In_Frame_Del	DEL	CCGCTCCTTCTCCTGTTTCTG	CCGCTCCTTCTCCTGTTTCTG	-													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tgcttctgccgctccttctcCcgctccttctcctgtttctg					rs144176745|rs549120802		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	CCGCTCCTTCTCCTGTTTCTG	CCGCTCCTTCTCCTGTTTCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:30369466_30369486delCCGCTCCTTCTCCTGTTTCTG	ENST00000409939.3	-	9	2286_2306	c.2206_2226delCAGAAACAGGAGAAGGAGCGG	c.(2206-2226)cagaaacaggagaaggagcggdel	p.QKQEKER736del	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000305596.3_5'Flank	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	736					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			gctccttctcccgctccttctcctgtttctgccgctccttc	0.584																																					p.736_743del		Pindel,Atlas-Indel	.											.	TBC1D10B	32	.	0			c.2207_2227del						PASS	.																																			SO:0001651	inframe_deletion	26000	exon9			.	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2206_2226delCAGAAACAGGAGAAGGAGCGG	16.37:g.30369466_30369486delCCGCTCCTTCTCCTGTTTCTG	ENSP00000386538:p.Gln736_Arg742del	Somatic	284	.	.		WXS	Illumina HiSeq	Phase_I	131	21	0.16	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	In_Frame_Del	DEL	ENST00000409939.3	37	CCDS10676.2																																																																																			.	.	none		0.584	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		-	30369486	CCGCTCCTTCTCCTGTTTCTG	-	30369466	7	5	21	1	0	1	0	1	0	0	0	0	15596	610	22	0	204	0	TBC1D10B	16	30369466	In_Frame_Del	DEL	CCGCTCCTTCTCCTGTTTCTG	TCGA-FM-8000-01A-11D-2210-10	11243112	30369466	59985287	188	5062										
NLRC5	84166	hgsc.bcm.edu	37	chr16	57060777	57060777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cctcccctatcaactgccctTccacaatttcccactgacct	2	20	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:57060777T>G	ENST00000262510.6	+	6	2147	c.1922T>G	c.(1921-1923)tTc>tGc	p.F641C	NLRC5_ENST00000539144.1_Missense_Mutation_p.F641C|NLRC5_ENST00000436936.1_Missense_Mutation_p.F641C|NLRC5_ENST00000308149.7_Missense_Mutation_p.F641C	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	641					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAACTGCCCTTCCACAATTTC	0.582																																					p.F641C		Atlas-SNP	.											.	NLRC5	186	.	0			c.T1922G						PASS	.						135	104	114					16																	57060777		2198	4300	6498	SO:0001583	missense	84166	exon5			TGCCCTTCCACAA	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1922T>G	16.37:g.57060777T>G	ENSP00000262510:p.Phe641Cys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	161	103	0.639752	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035554	0.54896	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.52	5.52	0.82312	.	0.000000	0.36200	N	0.002731	T	0.71660	0.3366	M	0.78049	2.395	0.30726	N	0.747709	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.85130	0.997;0.997;0.996;0.971	T	0.73849	-0.3853	10	0.42905	T	0.14	.	13.3563	0.60629	0.0:0.0:0.0:1.0	.	641;641;641;641	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	C	641;641;641;115;641;148	ENSP00000262510:F641C;ENSP00000308886:F641C;ENSP00000389739:F641C;ENSP00000441727:F641C;ENSP00000441597:F148C	ENSP00000262510:F641C	F	+	2	0	NLRC5	55618278	1.000000	0.71417	0.996000	0.52242	0.574000	0.36063	4.416000	0.59815	2.096000	0.63516	0.459000	0.35465	TTC	.	.	none		0.582	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57060777	T	G	57060777	3	3	21	1	0	0	0	0	1	0	0	0	10470	1783	62	5	1936	5	NLRC5	16	57060777	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	26691311	57060777	33293976	189	5063										
ZNF319	57567	hgsc.bcm.edu	37	chr16	58032032	58032032	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aggatgccatagacggcacaGcccagggggttctccgccgt	14	13	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr16:58032032G>T	ENST00000299237.2	-	2	760	c.138C>A	c.(136-138)ggC>ggA	p.G46G	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	46	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGACGGCACAGCCCAGGGGGT	0.706																																					p.G46G		Atlas-SNP	.											.	ZNF319	42	.	0			c.C138A						PASS	.						42	43	43					16																	58032032		2197	4299	6496	SO:0001819	synonymous_variant	57567	exon2			GGCACAGCCCAGG	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.138C>A	16.37:g.58032032G>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	32	9	0.28125	NM_020807	Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																			.	.	none		0.706	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			T	58032032	G	T	58032032	2	4	21	1	0	0	0	0	0	0	0	1	17834	958	34	4		4	ZNF319	16	58032032	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	971255	58032032	32322721	190	5064										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4446457	4446457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cgccgggcacggcacaggtgGtgcctgtgggtggtgaggac	20	10	0	1	rs751670	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:4446457G>A	ENST00000254718.4	-	20	2949	c.2643C>T	c.(2641-2643)caC>caT	p.H881H	MYBBP1A_ENST00000381556.2_Silent_p.H881H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	881					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCACAGGTGGTGCCTGTGGG	0.657													G|||	1165	0.232628	0.0234	0.2061	5008	,	,		17316	0.5496		0.1571	False		,,,				2504	0.2853				p.H881H		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.C2643T						PASS	.	G	,	207,4189		10,187,2001	14	16	15		2643,2643	-4.4	0.5	17	dbSNP_86	15	1333,7223		117,1099,3062	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	127,1286,5063	AA,AG,GG		15.5797,4.7088,11.8901	,	881/1333,881/1329	4446457	1540,11412	2198	4278	6476	SO:0001819	synonymous_variant	10514	exon20			CAGGTGGTGCCTG	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2643C>T	17.37:g.4446457G>A		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																			G|0.812;A|0.188	0.188	strong		0.657	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		A	4446457	G	A	4446457	2	1	21	1	0	0	0	0	0	0	0	1	10008	1252	44	2		2	MYBBP1A	17	4446457	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10		4446457	76748753	191	5065										
PLD2	5338	hgsc.bcm.edu	37	chr17	4718855	4718855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtggctatagcaagagggcgCtgatgctgctgcaccccaac	13	12	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:4718855C>T	ENST00000263088.6	+	13	1389	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	PLD2_ENST00000572940.1_Silent_p.L420L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	420					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CAAGAGGGCGCTGATGCTGCT	0.582											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L420L		Atlas-SNP	.											PLD2_ENST00000263088,bladder,carcinoma,-2,2	PLD2	138	2	0			c.C1258T						PASS	.						250	220	230					17																	4718855		2203	4300	6503	SO:0001819	synonymous_variant	5338	exon13			AGGGCGCTGATGC	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1258C>T	17.37:g.4718855C>T		Somatic	156	0	0	621	WXS	Illumina HiSeq	Phase_I	115	48	0.417391	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																			.	.	none		0.582	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		T	4718855	C	T	4718855	2	4	21	1	0	0	0	0	0	0	0	1	12046	796	28	2		2	PLD2	17	4718855	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	272398	4718855	76476355	192	5066										
MINK1	50488	hgsc.bcm.edu	37	chr17	4797860	4797860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aaaggcccctggcaagagctCgttcacgatgtttgtggatc	12	10	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:4797860C>T	ENST00000355280.6	+	24	3045	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	MINK1_ENST00000347992.7_Missense_Mutation_p.S921L|MINK1_ENST00000453408.3_Missense_Mutation_p.S930L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGCAAGAGCTCGTTCACGATG	0.602																																					p.S950L		Atlas-SNP	.											.	MINK1	110	.	0			c.C2849T						PASS	.						57	62	60					17																	4797860		2116	4245	6361	SO:0001583	missense	50488	exon24			AGAGCTCGTTCAC	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2849C>T	17.37:g.4797860C>T	ENSP00000347427:p.Ser950Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_153827		Missense_Mutation	SNP	ENST00000355280.6	37	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952243	0.92660	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	D;D;D	0.83591	-1.74;-1.74;-1.71	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.73598	2.24	0.58432	D	0.999999	D;D;D;D	0.69078	0.996;0.997;0.994;0.997	P;D;P;D	0.66847	0.658;0.947;0.885;0.947	D	0.91106	0.4918	10	0.87932	D	0	.	15.884	0.79226	0.0:1.0:0.0:0.0	.	913;930;950;921	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	L	950;930;921	ENSP00000347427:S950L;ENSP00000406487:S930L;ENSP00000269296:S921L	ENSP00000269296:S921L	S	+	2	0	MINK1	4738636	1.000000	0.71417	0.928000	0.36995	0.990000	0.78478	6.788000	0.75105	2.620000	0.88729	0.655000	0.94253	TCG	.	.	none		0.602	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		T	4797860	C	T	4797860	3	4	21	1	0	0	0	0	1	0	0	0	9587	893	31	1	2710	1	MINK1	17	4797860	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	79005	4797860	76397350	193	5067										
PFN1	5216	hgsc.bcm.edu	37	chr17	4849259	4849259	+	Missense_Mutation	SNP	T	T	G													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcttgttgatcaaaccaccgTggacaccttctttgcccatc							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:4849259T>G	ENST00000225655.5	-	3	978	c.359A>C	c.(358-360)cAc>cCc	p.H120P	PFN1_ENST00000574872.1_Missense_Mutation_p.H84P	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	120					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAAACCACCGTGGACACCTTC	0.557																																					p.H120P		Atlas-SNP	.											.	PFN1	6	.	0			c.A359C						PASS	.						107	81	90					17																	4849259		2203	4300	6503	SO:0001583	missense	5216	exon3			CCACCGTGGACAC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.359A>C	17.37:g.4849259T>G	ENSP00000225655:p.His120Pro	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	195	71	0.364103	NM_005022	Q53Y44	Missense_Mutation	SNP	ENST00000225655.5	37	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045910	0.36085	.	.	ENSG00000108518	ENST00000225655	D	0.85955	-2.05	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	D	0.90184	0.6932	M	0.69823	2.125	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88931	0.3373	10	0.35671	T	0.21	.	11.2225	0.48864	0.0:0.0:0.0:1.0	.	120;120	P07737;Q53Y44	PROF1_HUMAN;.	P	120	ENSP00000225655:H120P	ENSP00000225655:H120P	H	-	2	0	PFN1	4790004	1.000000	0.71417	0.998000	0.56505	0.619000	0.37552	6.169000	0.71913	1.815000	0.52974	0.247000	0.18012	CAC	.	.	alt		0.557	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		G	4849259	T	G	4849259	3	3	21	1	0	0	0	0	1	0	0	0	11767	1696	59	5	67	5	PFN1	17	4849259	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	51399	4849259	76345951	194	5068	98	2								
PFN1	5216	hgsc.bcm.edu	37	chr17	4849260	4849260	+	Missense_Mutation	SNP	G	G	C													0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cttgttgatcaaaccaccgtGgacaccttctttgcccatca							TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:4849260G>C	ENST00000225655.5	-	3	977	c.358C>G	c.(358-360)Cac>Gac	p.H120D	PFN1_ENST00000574872.1_Missense_Mutation_p.H84D	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	120					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AAACCACCGTGGACACCTTCT	0.552																																					p.H120D		Atlas-SNP	.											.	PFN1	6	.	0			c.C358G						PASS	.						107	81	90					17																	4849260		2203	4300	6503	SO:0001583	missense	5216	exon3			CACCGTGGACACC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.358C>G	17.37:g.4849260G>C	ENSP00000225655:p.His120Asp	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	196	72	0.367347	NM_005022	Q53Y44	Missense_Mutation	SNP	ENST00000225655.5	37	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805916	0.70682	.	.	ENSG00000108518	ENST00000225655	D	0.85702	-2.02	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000001	D	0.91878	0.7429	M	0.83953	2.67	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91227	0.5011	10	0.35671	T	0.21	.	14.3076	0.66395	0.0:0.0:1.0:0.0	.	120;120	P07737;Q53Y44	PROF1_HUMAN;.	D	120	ENSP00000225655:H120D	ENSP00000225655:H120D	H	-	1	0	PFN1	4790005	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.593000	0.82686	2.300000	0.77407	0.448000	0.29417	CAC	.	.	none		0.552	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		C	4849260	G	C	4849260	3	2	21	1	0	0	0	0	1	0	0	0	11767	1348	47	4	68	4	PFN1	17	4849260	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	1	4849260	76345950	195	5069	98	2								
NLRP1	22861	hgsc.bcm.edu	37	chr17	5440172	5440172	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gttctgggtccccccttaccGtctgctgaagatgagcagct	11	13	2	3	rs199748129		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:5440172G>A	ENST00000572272.1	-	8	2958	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000262467.5_Splice_Site_p.R987W|NLRP1_ENST00000345221.3_Splice_Site_p.R987W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000269280.4_Splice_Site_p.R987W			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	987					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.R987W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCCCTTACCGTCTGCTGAAG	0.587																																					p.R987W		Atlas-SNP	.											NLRP1,colon,carcinoma,0,1	NLRP1	358	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2959T						PASS	.						74	61	65					17																	5440172		2203	4300	6503	SO:0001630	splice_region_variant	22861	exon8			CTTACCGTCTGCT	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2960+1C>T	17.37:g.5440172G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	37	11	0.297297	NM_014922	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.342015	0.11069	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000345221;ENST00000537069	T;T;T;T	0.71222	-0.55;-0.55;-0.54;-0.54	2.69	-5.38	0.02673	.	0.838313	0.09764	N	0.758830	T	0.37892	0.1020	N	0.03294	-0.36	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.002;0.001	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	T	0.12502	-1.0545	10	0.49607	T	0.09	.	2.3958	0.04389	0.2437:0.1575:0.4437:0.1551	.	253;987;987;987	F5H042;Q9C000;Q9C000-2;E9PE50	.;NALP1_HUMAN;.;.	W	987;987;987;987;253	ENSP00000442029:R987W;ENSP00000262467:R987W;ENSP00000269280:R987W;ENSP00000324366:R987W	ENSP00000262467:R987W	R	-	1	2	NLRP1	5380896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.179000	0.03090	-1.788000	0.01266	-2.377000	0.00234	CGG	.	.	weak		0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	Missense_Mutation	A	5440172	G	A	5440172	5	1	21	1	0	0	0	0	0	0	1	0	10471	1159	40	1	1577	1	NLRP1	17	5440172	Splice_Site	SNP	G	TCGA-FM-8000-01A-11D-2210-10	590912	5440172	75755038	196	5070										
NLRP1	22861	hgsc.bcm.edu	37	chr17	5462409	5462409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcagtgtgagtttttccttcCgcttcatctgctgcatcagg	9	11	4	1	rs138756363		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:5462409C>T	ENST00000572272.1	-	4	1606	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	NLRP1_ENST00000577119.1_Missense_Mutation_p.R536Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536Q|NLRP1_ENST00000345221.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536Q			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTTCCTTCCGCTTCATCTG	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		17225	0.001		0.0	False		,,,				2504	0.0				p.R536Q		Atlas-SNP	.											NLRP1_ENST00000572272,NS,carcinoma,0,3	NLRP1	358	3	0			c.G1607A						scavenged	.	T	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	127	106	113		1607,1607,1607,1607,1607	-8.8	0	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	43,43,43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign	536/1376,536/1430,536/1474,536/1444,536/1400	5462409	2,13004	2203	4300	6503	SO:0001583	missense	22861	exon4			TCCTTCCGCTTCA	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1607G>A	17.37:g.5462409C>T	ENSP00000460475:p.Arg536Gln	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	160	3	0.01875	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	c	0.237	-1.016225	0.02078	4.54E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.69806	-0.43;-0.43;-0.42;-0.41;-0.42	4.38	-8.76	0.00830	NACHT nucleoside triphosphatase (1);	2.205680	0.02159	N	0.058626	T	0.42787	0.1218	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.17667	0.023;0.023;0.014;0.023;0.014	B;B;B;B;B	0.10450	0.005;0.005;0.002;0.005;0.003	T	0.48246	-0.9052	10	0.05721	T	0.95	.	10.3012	0.43653	0.0:0.1425:0.2094:0.6482	.	536;536;536;536;536	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	Q	536	ENSP00000442029:R536Q;ENSP00000262467:R536Q;ENSP00000269280:R536Q;ENSP00000346390:R536Q;ENSP00000324366:R536Q	ENSP00000262467:R536Q	R	-	2	0	NLRP1	5403133	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.770000	0.00371	-2.901000	0.00312	-1.768000	0.00664	CGG	C|1.000;T|0.000	0.000	weak		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5462409	C	T	5462409	3	4	21	1	0	0	0	0	1	0	0	0	10471	652	23	1	2945	1	NLRP1	17	5462409	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	22237	5462409	75732801	197	5071										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15619469	15619469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	aataatagacagactgacacGgaatagtgtctatgactcta	8	7	2	4	rs184773569	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:15619469G>A	ENST00000464847.2	+	5	984	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	ZNF286A_ENST00000413242.2_Missense_Mutation_p.R144Q|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R144Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R134Q|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R144Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGACTGACACGGAATAGTGTC	0.403													G|||	5	0.000998403	0.0	0.0029	5008	,	,		22267	0.003		0.0	False		,,,				2504	0.0				p.R144Q		Atlas-SNP	.											ZNF286A,NS,adenocarcinoma,0,1	ZNF286A	58	1	0			c.G431A						scavenged	.	G	GLN/ARG,GLN/ARG	0,4398		0,0,2199	55	54	55		431,431	0.9	0	17		55	1,8577		0,1,4288	no	missense,missense	ZNF286A	NM_020652.2,NM_001130842.1	43,43	0,1,6487	AA,AG,GG		0.0117,0.0,0.0077	benign,benign	144/522,144/522	15619469	1,12975	2199	4289	6488	SO:0001583	missense	57335	exon6			TGACACGGAATAG	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.431G>A	17.37:g.15619469G>A	ENSP00000464218:p.Arg144Gln	Somatic	376	0	0		WXS	Illumina HiSeq	Phase_I	281	3	0.0106762	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	7	0.003205128205128205	4	0.008130081300813009	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	g	2.322	-0.355403	0.05138	0.0	1.17E-4	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07800	3.51;3.16	4.17	0.913	0.19354	.	2.176060	0.02645	N	0.105831	T	0.05090	0.0136	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37820	-0.9689	10	0.18710	T	0.47	-0.8548	6.2282	0.20720	0.5049:0.0:0.4951:0.0	.	144	Q9HBT8	Z286A_HUMAN	Q	144;134;144	ENSP00000397163:R144Q;ENSP00000408168:R134Q	ENSP00000435872:R144Q	R	+	2	0	ZNF286A	15560194	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.096000	0.15147	0.025000	0.15241	-0.145000	0.13849	CGG	G|0.997;A|0.003	0.003	strong		0.403	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		A	15619469	G	A	15619469	3	1	21	1	0	0	0	0	1	0	0	0	17820	1116	39	1	449	1	ZNF286A	17	15619469	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	10157060	15619469	65575741	198	5072										
SLFN12	55106	hgsc.bcm.edu	37	chr17	33738875	33738875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttcttcacatattaattgctTaagtccttcatgttgtaaga	5	7	3	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:33738875T>G	ENST00000394562.1	-	6	1742	c.1219A>C	c.(1219-1221)Aag>Cag	p.K407Q	SLFN12_ENST00000304905.5_Missense_Mutation_p.K407Q|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000452764.3_Missense_Mutation_p.K407Q|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	407							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTAATTGCTTAAGTCCTTCA	0.383																																					p.K407Q		Atlas-SNP	.											SLFN12,colon,carcinoma,+2,1	SLFN12	56	1	0			c.A1219C						PASS	.						103	107	106					17																	33738875		2203	4300	6503	SO:0001583	missense	55106	exon4			ATTGCTTAAGTCC	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1219A>C	17.37:g.33738875T>G	ENSP00000378063:p.Lys407Gln	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	47	18	0.382979	NM_018042	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	T	4.983	0.182542	0.09495	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03920	3.76;3.76;3.76	3.05	-0.252	0.12999	.	.	.	.	.	T	0.02610	0.0079	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	9	0.51188	T	0.08	.	3.4293	0.07422	0.0:0.5168:0.2174:0.2659	.	407	Q8IYM2	SLN12_HUMAN	Q	407	ENSP00000378063:K407Q;ENSP00000302077:K407Q;ENSP00000394903:K407Q	ENSP00000302077:K407Q	K	-	1	0	SLFN12	30762988	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.299000	0.01139	-0.137000	0.11455	-2.169000	0.00324	AAG	.	.	none		0.383	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		G	33738875	T	G	33738875	3	3	21	1	0	0	0	0	1	0	0	0	14734	1763	61	5	521	5	SLFN12	17	33738875	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	18119406	33738875	47456335	199	5073										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000446365.2_Missense_Mutation_p.T106S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.T167S|CDC27_ENST00000527547.1_Missense_Mutation_p.T167S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	191	5	0.026178		WXS	Illumina HiSeq	Phase_I	108	5	0.0462963	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	21	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	11495852	45234727	35960483	200	5074										
AATK	9625	hgsc.bcm.edu	37	chr17	79098649	79098649	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcagtcacgaagtagtcctcCtgttggcacagggacgggtc	14	11	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr17:79098649C>T	ENST00000326724.4	-	9	865		c.e9-1		MIR657_ENST00000385003.1_RNA|AATK_ENST00000572339.1_5'Flank|AATK_ENST00000417379.1_Splice_Site|MIR338_ENST00000390137.2_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase						brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGTAGTCCTCCTGTTGGCACA	0.667																																					.		Atlas-SNP	.											.	AATK	102	.	0			c.841-1G>A						PASS	.						33	38	36					17																	79098649		2147	4246	6393	SO:0001630	splice_region_variant	9625	exon10			GTCCTCCTGTTGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.841-1G>A	17.37:g.79098649C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_001080395	O75136|Q6ZN31|Q86X28	Splice_Site	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262080	0.39995	.	.	ENSG00000181409	ENST00000326724;ENST00000417379;ENST00000374792	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6471	0.68769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AATK	76713244	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.002000	0.76304	2.041000	0.60428	0.591000	0.81541	.	.	.	none		0.667	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920	Intron	T	79098649	C	T	79098649	5	4	21	1	0	0	0	0	0	0	1	0	26	695	24	2	3308	2	AATK	17	79098649	Splice_Site	SNP	C	TCGA-FM-8000-01A-11D-2210-10	33863922	79098649	2096561	201	5075										
DSG2	1829	hgsc.bcm.edu	37	chr18	29098213	29098213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	attttacagatctgctttaaCgttggaagtggacttcactt	8	7	2	1	rs587780925		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr18:29098213C>T	ENST00000261590.8	+	2	266	c.57C>T	c.(55-57)aaC>aaT	p.N19N	DSG2_ENST00000585206.1_Silent_p.N19N	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	19					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCTGCTTTAACGTTGGAAGTG	0.368																																					p.N19N		Atlas-SNP	.											.	DSG2	115	.	0			c.C57T						PASS	.						105	100	102					18																	29098213		1839	4087	5926	SO:0001819	synonymous_variant	1829	exon2			CTTTAACGTTGGA	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.57C>T	18.37:g.29098213C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	69	32	0.463768	NM_001943	Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																			.	.	none		0.368	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		T	29098213	C	T	29098213	2	4	21	1	0	0	0	0	0	0	0	1	4777	535	19	1		1	DSG2	18	29098213	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10		29098213	48979035	202	5076										
DCC	1630	hgsc.bcm.edu	37	chr18	50832066	50832066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gatggaaacactggagccaaAcaacctctggtacctattca	8	11	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr18:50832066A>G	ENST00000442544.2	+	13	2646	c.2030A>G	c.(2029-2031)aAc>aGc	p.N677S	DCC_ENST00000581580.1_Missense_Mutation_p.N332S|DCC_ENST00000412726.1_Missense_Mutation_p.N525S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	677	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAGCCAAACAACCTCTGG	0.428																																					p.N677S		Atlas-SNP	.											.	DCC	360	.	0			c.A2030G						PASS	.						99	104	102					18																	50832066		2203	4300	6503	SO:0001583	missense	1630	exon13			AGCCAAACAACCT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2030A>G	18.37:g.50832066A>G	ENSP00000389140:p.Asn677Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	88	35	0.397727	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631843	0.46944	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56776	0.44;0.44	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	N	0.05383	-0.06	0.52099	D	0.999944	B;B;B	0.15141	0.007;0.003;0.012	B;B;B	0.20767	0.031;0.031;0.018	T	0.19712	-1.0297	10	0.05620	T	0.96	.	15.0365	0.71751	1.0:0.0:0.0:0.0	.	525;525;677	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	677;610;525	ENSP00000389140:N677S;ENSP00000397322:N525S	ENSP00000304146:N610S	N	+	2	0	DCC	49086064	1.000000	0.71417	0.985000	0.45067	0.977000	0.68977	8.773000	0.91762	2.239000	0.73571	0.533000	0.62120	AAC	.	.	none		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50832066	A	G	50832066	3	3	21	1	0	0	0	0	1	0	0	0	4282	43	2	2	2080	2	DCC	18	50832066	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	21733853	50832066	27245182	203	5077										
BCL2	596	hgsc.bcm.edu	37	chr18	60985444	60985444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acacacatgaccccaccgaaCtcaaagaaggccacaatcct	5	16	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr18:60985444C>T	ENST00000398117.1	-	1	1917	c.456G>A	c.(454-456)gaG>gaA	p.E152E	BCL2_ENST00000589955.1_Silent_p.E152E|BCL2_ENST00000444484.1_Silent_p.E152E|BCL2_ENST00000333681.4_Silent_p.E152E	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	152					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CCCCACCGAACTCAAAGAAGG	0.627			T	IGH@	"NHL, CLL"																																p.E152E		Atlas-SNP	.		Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	.	BCL2	272	.	0			c.G456A						PASS	.						139	148	145					18																	60985444		2203	4300	6503	SO:0001819	synonymous_variant	596	exon2			ACCGAACTCAAAG	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.456G>A	18.37:g.60985444C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	128	50	0.390625	NM_000633	C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	CCDS11981.1																																																																																			.	.	none		0.627	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		T	60985444	C	T	60985444	2	4	21	1	0	0	0	0	0	0	0	1	1365	564	20	2		2	BCL2	18	60985444	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	10153378	60985444	17091804	204	5078										
SERPINB7	8710	hgsc.bcm.edu	37	chr18	61471521	61471521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atggaatggaccaatccaagGcgaatgacctctaagtatgt	10	8	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr18:61471521G>A	ENST00000398019.2	+	8	1120	c.795G>A	c.(793-795)agG>agA	p.R265R	SERPINB7_ENST00000546027.1_Silent_p.R265R|SERPINB7_ENST00000336429.2_Silent_p.R265R|SERPINB7_ENST00000540675.1_Silent_p.R248R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	265					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCAATCCAAGGCGAATGACCT	0.333																																					p.R265R		Atlas-SNP	.											.	SERPINB7	66	.	0			c.G795A						PASS	.						45	44	44					18																	61471521		2203	4300	6503	SO:0001819	synonymous_variant	8710	exon8			TCCAAGGCGAATG	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.795G>A	18.37:g.61471521G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	19	7	0.368421	NM_001261830	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	CCDS11988.1																																																																																			.	.	none		0.333	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		A	61471521	G	A	61471521	2	1	21	1	0	0	0	0	0	0	0	1	14106	1194	42	2		2	SERPINB7	18	61471521	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	486077	61471521	16605727	205	5079										
DAZAP1	26528	hgsc.bcm.edu	37	chr19	1434902	1434902	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtgcaagggttccacccctaCcgacgctagcccgcggcgcc	12	18	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:1434902C>G	ENST00000233078.4	+	12	1376	c.1215C>G	c.(1213-1215)taC>taG	p.Y405*	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	405					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACCCCTACCGACGCTAGC	0.677																																					p.Y405X		Atlas-SNP	.											.	DAZAP1	52	.	0			c.C1215G						PASS	.						10	11	10					19																	1434902		2142	4191	6333	SO:0001587	stop_gained	26528	exon12			CCCCTACCGACGC		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1215C>G	19.37:g.1434902C>G	ENSP00000233078:p.Tyr405*	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	12	5	0.416667	NM_018959	Q96MJ3|Q9NRR9	Nonsense_Mutation	SNP	ENST00000233078.4	37	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	C	37	6.251811	0.97412	.	.	ENSG00000071626	ENST00000233078	.	.	.	5.26	2.98	0.34508	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0207	0.42041	0.0:0.7804:0.0:0.2196	.	.	.	.	X	405	.	ENSP00000233078:Y405X	Y	+	3	2	DAZAP1	1385902	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.278000	0.33179	1.215000	0.43411	0.561000	0.74099	TAC	.	.	none		0.677	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		G	1434902	C	G	1434902	4	3	21	1	0	0	0	0	0	1	0	0	4244	518	18	4	1354	4	DAZAP1	19	1434902	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		1434902	57694081	206	5080										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511354	4511354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cggcccctttggccactttcGcagcaccggtcaccccactg	9	19	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:4511354G>A	ENST00000301286.3	-	3	2575	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	859	27 X 33 AA approximate tandem repeat.					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						GGCCACTTTCGCAGCACCGGT	0.587																																					p.A859V		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.C2576T						scavenged	.						68	78	75					19																	4511354		1926	4130	6056	SO:0001583	missense	729359	exon3			ACTTTCGCAGCAC	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.2576C>T	19.37:g.4511354G>A	ENSP00000301286:p.Ala859Val	Somatic	284	3	0.0105634		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	3.131	-0.178501	0.06380	.	.	ENSG00000167676	ENST00000301286	T	0.02863	4.13	4.78	-1.01	0.10169	.	0.874251	0.09537	N	0.788765	T	0.01189	0.0039	N	0.03948	-0.315	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48525	-0.9028	10	0.07644	T	0.81	-5.1453	5.6638	0.17684	0.3615:0.0:0.4823:0.1562	.	859	Q96Q06	PLIN4_HUMAN	V	859	ENSP00000301286:A859V	ENSP00000301286:A859V	A	-	2	0	PLIN4	4462354	0.065000	0.20965	0.000000	0.03702	0.002000	0.02628	-0.241000	0.08940	-0.050000	0.13356	-0.379000	0.06801	GCG	.	.	none		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4511354	G	A	4511354	3	1	21	1	0	0	0	0	1	0	0	0	12092	1087	38	1	1513	1	PLIN4	19	4511354	Missense_Mutation	SNP	G	TCGA-FM-8000-01A-11D-2210-10	3076452	4511354	54617629	207	5081										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512945	4512945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tttggccacattcatggcacCagtcaccccactacagacgg	8	15	2	1	rs75031432	byFrequency	TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:4512945C>T	ENST00000301286.3	-	3	984	c.985G>A	c.(985-987)Ggt>Agt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					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						TTCATGGCACCAGTCACCCCA	0.567													C|||	840	0.167732	0.4539	0.1037	5008	,	,		18994	0.0119		0.0934	False		,,,				2504	0.0634				p.G329S		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.G985A						scavenged	.						39	40	39					19																	4512945		1862	4105	5967	SO:0001583	missense	729359	exon3			TGGCACCAGTCAC	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.985G>A	19.37:g.4512945C>T	ENSP00000301286:p.Gly329Ser	Somatic	386	3	0.00777202		WXS	Illumina HiSeq	Phase_I	224	4	0.0178571	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776204	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.13901	2.55	4.53	1.21	0.21127	.	0.420915	0.19796	N	0.105865	T	0.13543	0.0328	L	0.46157	1.445	0.80722	P	0.0	D	0.54397	0.966	P	0.45794	0.493	T	0.19353	-1.0308	9	0.87932	D	0	-15.096	7.3812	0.26856	0.0:0.7112:0.0:0.2888	rs56366613	329	Q96Q06	PLIN4_HUMAN	S	329	ENSP00000301286:G329S	ENSP00000301286:G329S	G	-	1	0	PLIN4	4463945	0.091000	0.21658	0.003000	0.11579	0.001000	0.01503	0.810000	0.27183	0.906000	0.36621	0.407000	0.27541	GGT	C|0.826;T|0.174	0.174	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512945	C	T	4512945	3	4	21	1	0	0	0	0	1	0	0	0	12092	594	21	2	3104	2	PLIN4	19	4512945	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1591	4512945	54616038	208	5082										
FUT5	2527	hgsc.bcm.edu	37	chr19	5867725	5867725	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cactgtggcttggctgggccCaggggatccatgggtcagag	17	10	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:5867725C>T	ENST00000586349.1	-	4	406	c.407G>A	c.(406-408)tGg>tAg	p.W136*	FUT5_ENST00000252675.5_Silent_p.L4L|FUT5_ENST00000588525.1_Silent_p.L4L																							TGGCTGGGCCCAGGGGATCCA	0.602																																					p.L4L		Atlas-SNP	.											.	FUT5	29	.	0			c.G12A						PASS	.						22	25	24					19																	5867725		2200	4289	6489	SO:0001587	stop_gained	2527	exon2			TGGGCCCAGGGGA																												ENST00000586349.1:c.407G>A	19.37:g.5867725C>T	ENSP00000466639:p.Trp136*	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	107	32	0.299065	NM_002034		Silent	SNP	ENST00000586349.1	37																																																																																				.	.	none		0.602	AC024592.12-002	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000452249.1			T	5867725	C	T	5867725	4	4	21	1	0	0	0	0	0	1	0	0	6107	581	21	2	1116	2	FUT5	19	5867725	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1354780	5867725	53261258	209	5083										
MLLT1	4298	hgsc.bcm.edu	37	chr19	6230658	6230658	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cttctcgcagcgcaggtggtTcacgggcgggttgccttcca	14	13	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:6230658T>A	ENST00000252674.7	-	4	506	c.343A>T	c.(343-345)Aac>Tac	p.N115Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	115					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGCAGGTGGTTCACGGGCGGG	0.612			T	MLL	AL																																p.N115Y		Atlas-SNP	.		Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	MLLT1,NS,carcinoma,+2,1	MLLT1	47	1	0			c.A343T						PASS	.						168	167	167					19																	6230658		2203	4300	6503	SO:0001583	missense	4298	exon4			GGTGGTTCACGGG		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.343A>T	19.37:g.6230658T>A	ENSP00000252674:p.Asn115Tyr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	39	26	0.666667	NM_005934	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187892	0.78789	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.83692	2.655	0.80722	D	1	D	0.60575	0.988	P	0.61132	0.884	T	0.81398	-0.0951	9	0.72032	D	0.01	-55.4765	13.1576	0.59527	0.0:0.0:0.0:1.0	.	115	Q03111	ENL_HUMAN	Y	115	.	ENSP00000252674:N115Y	N	-	1	0	MLLT1	6181658	1.000000	0.71417	0.948000	0.38648	0.719000	0.41307	7.727000	0.84838	1.966000	0.57179	0.533000	0.62120	AAC	.	.	none		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		A	6230658	T	A	6230658	3	1	21	1	0	0	0	0	1	0	0	0	9625	1783	62	5	1372	5	MLLT1	19	6230658	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	362933	6230658	52898325	210	5084										
ZNF559	84527	hgsc.bcm.edu	37	chr19	9449245	9449245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gatggtggctgggtggttgaCaaattactctcaggtaagta	14	5	1	1	rs35591059		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:9449245C>G	ENST00000393883.2	+	3	668	c.20C>G	c.(19-21)aCa>aGa	p.T7R	ZNF559_ENST00000592504.1_Missense_Mutation_p.T7R|ZNF559_ENST00000586255.1_Missense_Mutation_p.T35R|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.T7R|ZNF177_ENST00000602738.1_5'UTR|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.T35R|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_5'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Missense_Mutation_p.T7R|ZNF559_ENST00000603380.1_Missense_Mutation_p.T7R|ZNF559_ENST00000587557.1_Missense_Mutation_p.T71R	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	7					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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GGGTGGTTGACAAATTACTCT	0.393																																					p.T71R		Atlas-SNP	.											.	ZNF559	77	.	0			c.C212G						PASS	.						190	180	183					19																	9449245		2203	4300	6503	SO:0001583	missense	84527	exon3			GGTTGACAAATTA	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.20C>G	19.37:g.9449245C>G	ENSP00000377461:p.Thr7Arg	Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	119	98	0.823529	NM_001202408	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252616	0.22880	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.06687	4.85;3.27	2.47	-1.11	0.09840	Krueppel-associated box (1);	.	.	.	.	T	0.02342	0.0072	N	0.03983	-0.305	0.09310	N	1	B	0.33964	0.434	B	0.30572	0.117	T	0.39921	-0.9590	9	0.09590	T	0.72	.	2.3148	0.04196	0.2411:0.4635:0.0:0.2955	.	7	Q9BR84	ZN559_HUMAN	R	7	ENSP00000325393:T7R;ENSP00000377461:T7R	ENSP00000325393:T7R	T	+	2	0	ZNF559	9310245	0.000000	0.05858	0.000000	0.03702	0.444000	0.32077	-0.799000	0.04560	-0.164000	0.10927	0.462000	0.41574	ACA	.	.	none		0.393	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		G	9449245	C	G	9449245	3	3	21	1	0	0	0	0	1	0	0	0	17987	478	17	4	22	4	ZNF559	19	9449245	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	3218587	9449245	49679738	211	5085										
ILF3	3609	hgsc.bcm.edu	37	chr19	10795539	10795539	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttgtcttaatttacagcaggTtttgtatgaatttttaacct	6	5	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:10795539T>G	ENST00000590261.1	+	16	2059				ILF3_ENST00000407004.3_3'UTR|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000449870.1_Intron|ILF3_ENST00000420083.1_Silent_p.G688G|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000250241.8_Silent_p.G688G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTACAGCAGGTTTTGTATGAA	0.358																																					p.G688G		Atlas-SNP	.											.	ILF3	99	.	0			c.T2064G						PASS	.						102	93	95					19																	10795539		1844	4079	5923	SO:0001627	intron_variant	3609	exon18			AGCAGGTTTTGTA	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2059+893T>G	19.37:g.10795539T>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	94	76	0.808511	NM_153464	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																			.	.	none		0.358	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			G	10795539	T	G	10795539	1	3	21	0	1	0	0	0	0	0	0	0	7712	1712	60	5		5	ILF3	19	10795539	Intron	SNP	T	TCGA-FM-8000-01A-11D-2210-10	1346294	10795539	48333444	212	5086										
LOC729991-MEF2B	100271849	hgsc.bcm.edu	37	chr19	19260045	19260045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cctggggtacctcgaggatgTcagtgttggtgcggctctcg	16	10	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:19260045T>G	ENST00000602424.2	-	5	974	c.248A>C	c.(247-249)gAc>gCc	p.D83A	MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.D83A|MEF2B_ENST00000424583.2_Missense_Mutation_p.D83A|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.D100A|MEF2B_ENST00000409224.1_Missense_Mutation_p.D83A|MEF2B_ENST00000409447.2_Missense_Mutation_p.D83A|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.D83A|MEF2B_ENST00000410050.1_Missense_Mutation_p.D83A	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	83					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D83V(11)|p.D83A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTCGAGGATGTCAGTGTTGGT	0.607																																					p.D83A		Atlas-SNP	.											MEF2BNB-MEF2B,NS,lymphoid_neoplasm,0,15	MEF2BNB-MEF2B	29	15	13	Substitution - Missense(13)	haematopoietic_and_lymphoid_tissue(13)	c.A248C						scavenged	.						126	63	84					19																	19260045		2203	4300	6503	SO:0001583	missense	4207	exon5			AGGATGTCAGTGT	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.248A>C	19.37:g.19260045T>G	ENSP00000473308:p.Asp83Ala	Somatic	172	2	0.0116279		WXS	Illumina HiSeq	Phase_I	97	70	0.721649	NM_005919	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917436	0.73098	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.33	5.33	0.75918	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.987;0.978;0.996;0.999;0.997	D	0.90697	0.4617	10	0.56958	D	0.05	-31.0539	13.2359	0.59969	0.0:0.0:0.0:1.0	.	83;130;83;83;83	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	A	83;83;83;83;130;83	ENSP00000386480:D83A;ENSP00000402154:D83A;ENSP00000386374:D83A;ENSP00000390762:D83A;ENSP00000162023:D83A	ENSP00000162023:D83A	D	-	2	0	MEF2B	19121045	1.000000	0.71417	0.999000	0.59377	0.518000	0.34316	7.923000	0.87546	2.024000	0.59613	0.459000	0.35465	GAC	.	.	none		0.607	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		G	19260045	T	G	19260045	3	3	21	1	0	0	0	0	1	0	0	0	8889	1667	58	5	873	5	LOC729991-MEF2B	19	19260045	Missense_Mutation	SNP	T	TCGA-FM-8000-01A-11D-2210-10	8464506	19260045	39868938	213	5087										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363817	22363817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gtaaggattgaggatcgattAaaagctttgccacattcttc	9	7	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:22363817A>G	ENST00000397121.2	-	3	1019	c.702T>C	c.(700-702)ttT>ttC	p.F234F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGATCGATTAAAAGCTTTGC	0.368																																					p.F234F		Atlas-SNP	.											ZNF676,NS,carcinoma,-1,2	ZNF676	146	2	0			c.T702C						scavenged	.						75	83	80					19																	22363817		2176	4287	6463	SO:0001819	synonymous_variant	163223	exon3			TCGATTAAAAGCT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.702T>C	19.37:g.22363817A>G		Somatic	26	1	0.0384615		WXS	Illumina HiSeq	Phase_I	24	3	0.125	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			.	.	none		0.368	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363817	A	G	22363817	2	3	21	1	0	0	0	0	0	0	0	1	18080	359	13	2		2	ZNF676	19	22363817	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	3103772	22363817	36765166	214	5088										
ZNF675	171392	hgsc.bcm.edu	37	chr19	23869831	23869831	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atgtcgcacccgtaactctcAccatttctaggcttccaggg	8	14	2	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:23869831A>C	ENST00000359788.4	-	1	172		c.e1+1		ZNF675_ENST00000601935.1_Splice_Site|ZNF675_ENST00000601010.1_Splice_Site|ZNF675_ENST00000599168.1_Splice_Site|ZNF675_ENST00000600313.1_Splice_Site|ZNF675_ENST00000596211.1_Splice_Site	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675						bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CGTAACTCTCACCATTTCTAG	0.602																																					.		Atlas-SNP	.											.	ZNF675	88	.	0			c.3+2T>G						PASS	.						87	81	83					19																	23869831		2203	4300	6503	SO:0001630	splice_region_variant	171392	exon2			ACTCTCACCATTT		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.3+1T>G	19.37:g.23869831A>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	26	7	0.269231	NM_138330	Q8N211	Splice_Site	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	3.188	-0.166399	0.06461	.	.	ENSG00000197372	ENST00000359788	.	.	.	0.458	0.458	0.16670	.	.	.	.	.	.	.	.	.	.	.	0.24824	N	0.992563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF675	23661671	0.065000	0.20965	0.013000	0.15412	0.013000	0.08279	0.320000	0.19540	0.407000	0.25591	0.397000	0.26171	.	.	.	none		0.602	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	Intron	C	23869831	A	C	23869831	5	2	21	1	0	0	0	0	0	0	1	0	18079	173	6	5	1717	5	ZNF675	19	23869831	Splice_Site	SNP	A	TCGA-FM-8000-01A-11D-2210-10	1506014	23869831	35259152	215	5089										
MAG	4099	hgsc.bcm.edu	37	chr19	35793379	35793379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tggaagccaacagtgaacggGacaatggtggccgtagaggg	17	7	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:35793379G>A	ENST00000392213.3	+	7	1158	c.999G>A	c.(997-999)ggG>ggA	p.G333G	MAG_ENST00000361922.4_Silent_p.G333G|MAG_ENST00000537831.2_Silent_p.G308G	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	333	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGTGAACGGGACAATGGTGG	0.572																																					p.G333G		Atlas-SNP	.											.	MAG	172	.	0			c.G999A						PASS	.						86	73	77					19																	35793379		2203	4300	6503	SO:0001819	synonymous_variant	4099	exon7			GAACGGGACAATG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.999G>A	19.37:g.35793379G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	29	22	0.758621	NM_080600	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																			.	.	none		0.572	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35793379	G	A	35793379	2	1	21	1	0	0	0	0	0	0	0	1	9162	1161	41	2		2	MAG	19	35793379	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	11923548	35793379	23335604	216	5090										
SPRED3	399473	hgsc.bcm.edu	37	chr19	38882747	38882747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctggctgcgctggccgcactGggtcgaggtgagcagcccag	17	13	0	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:38882747G>A	ENST00000338502.4	+	2	442	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SPRED3_ENST00000586301.1_Silent_p.L113L|SPRED3_ENST00000587013.1_Silent_p.L157L|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	113	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGCCGCACTGGGTCGAGGTG	0.627																																					p.L113L		Atlas-SNP	.											.	SPRED3	47	.	0			c.G339A						PASS	.						81	88	86					19																	38882747		2051	4190	6241	SO:0001819	synonymous_variant	399473	exon2			CGCACTGGGTCGA		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.339G>A	19.37:g.38882747G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_001042522	Q2MJR1	Silent	SNP	ENST00000338502.4	37	CCDS42560.1																																																																																			.	.	none		0.627	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		A	38882747	G	A	38882747	2	1	21	1	0	0	0	0	0	0	0	1	15093	1335	47	2		2	SPRED3	19	38882747	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	3089368	38882747	20246236	217	5091										
FPR2	2358	hgsc.bcm.edu	37	chr19	52272028	52272028	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	cttggggtcacctttgtcctCggggtcctgggcaatgggct	15	11	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:52272028C>T	ENST00000598776.1	+	2	889	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FPR2_ENST00000340023.6_Silent_p.L39L|FPR2_ENST00000598953.1_Silent_p.L39L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	39					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCTTTGTCCTCGGGGTCCTGG	0.547																																					p.L39L		Atlas-SNP	.											FPR2,mouth,carcinoma,+2,1	FPR2	66	1	0			c.C117T						scavenged	.						174	144	154					19																	52272028		2203	4300	6503	SO:0001819	synonymous_variant	2358	exon2			TGTCCTCGGGGTC	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.117C>T	19.37:g.52272028C>T		Somatic	403	0	0		WXS	Illumina HiSeq	Phase_I	250	3	0.012	NM_001005738	A8K3E2	Silent	SNP	ENST00000598776.1	37	CCDS12840.1																																																																																			.	.	none		0.547	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		T	52272028	C	T	52272028	2	4	21	1	0	0	0	0	0	0	0	1	6039	871	31	1		1	FPR2	19	52272028	Silent	SNP	C	TCGA-FM-8000-01A-11D-2210-10	13389281	52272028	6856955	218	5092										
USP29	57663	hgsc.bcm.edu	37	chr19	57640529	57640529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	catgtgaaaaaggggatattAgaaaatcaaggtgggaaggg	15	2	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:57640529A>G	ENST00000254181.4	+	4	940	c.486A>G	c.(484-486)ttA>ttG	p.L162L	USP29_ENST00000598197.1_Silent_p.L162L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	162					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGGATATTAGAAAATCAAG	0.358																																					p.L162L		Atlas-SNP	.											.	USP29	186	.	0			c.A486G						PASS	.						87	86	87					19																	57640529		2203	4300	6503	SO:0001819	synonymous_variant	57663	exon4			GATATTAGAAAAT		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.486A>G	19.37:g.57640529A>G		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	106	81	0.764151	NM_020903		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																			.	.	none		0.358	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57640529	A	G	57640529	2	3	21	1	0	0	0	0	0	0	0	1	17056	417	15	3		3	USP29	19	57640529	Silent	SNP	A	TCGA-FM-8000-01A-11D-2210-10	5368501	57640529	1488454	219	5093										
MZF1	7593	hgsc.bcm.edu	37	chr19	59073591	59073591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gcggaaggccttgccacactCagggcatgcgtagggccgtt	15	12	1	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr19:59073591C>T	ENST00000215057.2	-	6	2613	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.E685K|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	685					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E685K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TTGCCACACTCAGGGCATGCG	0.697																																					p.E685K		Atlas-SNP	.											MZF1,NS,carcinoma,0,1	MZF1	37	1	1	Substitution - Missense(1)	endometrium(1)	c.G2053A						PASS	.						57	44	48					19																	59073591		2202	4298	6500	SO:0001583	missense	7593	exon6			CACACTCAGGGCA	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2053G>A	19.37:g.59073591C>T	ENSP00000215057:p.Glu685Lys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	47	23	0.489362	NM_198055	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949631	0.73787	.	.	ENSG00000099326	ENST00000215057	T	0.16597	2.33	3.06	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	N	0.21142	0.635	0.35830	D	0.825217	P	0.43542	0.81	B	0.40506	0.331	T	0.27468	-1.0073	9	0.72032	D	0.01	-17.6756	12.3439	0.55109	0.0:1.0:0.0:0.0	.	685	P28698	MZF1_HUMAN	K	685	ENSP00000215057:E685K	ENSP00000215057:E685K	E	-	1	0	MZF1	63765403	0.000000	0.05858	0.996000	0.52242	0.941000	0.58515	-0.144000	0.10280	2.014000	0.59158	0.462000	0.41574	GAG	.	.	none		0.697	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		T	59073591	C	T	59073591	3	4	21	1	0	0	0	0	1	0	0	0	10108	835	29	2	155	2	MZF1	19	59073591	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	1433062	59073591	55392	220	5094										
ADRA1D	146	hgsc.bcm.edu	37	chr20	4229009	4229009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ctgggtacttgagtgagtggCgcacgcccacgtaccggtcc	14	13	0	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr20:4229009C>T	ENST00000379453.4	-	1	712	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	199					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.R199H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GAGTGAGTGGCGCACGCCCAC	0.682																																					p.R199H		Atlas-SNP	.											ADRA1D,NS,carcinoma,0,1	ADRA1D	36	1	1	Substitution - Missense(1)	lung(1)	c.G596A						PASS	.						33	36	35					20																	4229009		2196	4296	6492	SO:0001583	missense	146	exon1			GAGTGGCGCACGC	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.596G>A	20.37:g.4229009C>T	ENSP00000368766:p.Arg199His	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	83	32	0.385542	NM_000678	Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.627986	0.66901	.	.	ENSG00000171873	ENST00000379453	T	0.19806	2.12	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.055353	0.64402	D	0.000004	T	0.34513	0.0900	L	0.48260	1.515	0.31054	N	0.714891	D	0.76494	0.999	D	0.73380	0.98	T	0.24977	-1.0145	10	0.59425	D	0.04	.	8.376	0.32442	0.0:0.8943:0.0:0.1057	.	199	P25100	ADA1D_HUMAN	H	199	ENSP00000368766:R199H	ENSP00000368766:R199H	R	-	2	0	ADRA1D	4177009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.625000	0.46452	2.339000	0.79563	0.552000	0.68991	CGC	.	.	none		0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		T	4229009	C	T	4229009	3	4	21	1	0	0	0	0	1	0	0	0	336	768	27	1	1130	1	ADRA1D	20	4229009	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		4229009	58796511	221	5095										
MACROD2	140733	hgsc.bcm.edu	37	chr20	15967421	15967421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ataaaaattgaaacagaatcGcagagctcatatatggaaac	7	6	1	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr20:15967421G>A	ENST00000310348.4	+	14	1035	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S	MACROD2_ENST00000402914.1_Silent_p.S110S|MACROD2_ENST00000407045.3_5'UTR|MACROD2_ENST00000378058.3_Silent_p.S110S|MACROD2_ENST00000217246.4_Silent_p.S345S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	345	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAACAGAATCGCAGAGCTCAT	0.318																																					p.S345S		Atlas-SNP	.											MACROD2,colon,carcinoma,+2,2	MACROD2	34	2	0			c.G1035A						PASS	.						71	67	69					20																	15967421		2203	4300	6503	SO:0001819	synonymous_variant	140733	exon14			AGAATCGCAGAGC	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1035G>A	20.37:g.15967421G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	121	50	0.413223	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	CCDS13120.2																																																																																			.	.	none		0.318	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		A	15967421	G	A	15967421	2	1	21	1	0	0	0	0	0	0	0	1	9146	1074	38	1		1	MACROD2	20	15967421	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	11738412	15967421	47058099	222	5096										
ATP9A	10079	hgsc.bcm.edu	37	chr20	50313972	50313972	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	attctgctcaccttttcaacGatgataaggtctccaacttg	6	11	4	1	rs376498362		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr20:50313972G>A	ENST00000338821.5	-	5	750	c.486C>T	c.(484-486)atC>atT	p.I162I	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	162					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTTCAACGATGATAAGGT	0.413																																					p.I162I		Atlas-SNP	.											.	ATP9A	135	.	0			c.C486T						PASS	.						278	258	265					20																	50313972		2203	4300	6503	SO:0001819	synonymous_variant	10079	exon5			TTCAACGATGATA	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.486C>T	20.37:g.50313972G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	94	34	0.361702	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																			.	.	weak		0.413	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		A	50313972	G	A	50313972	2	1	21	1	0	0	0	0	0	0	0	1	1198	1048	37	1		1	ATP9A	20	50313972	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	34346551	50313972	12711548	223	5097										
AURKA	116151	hgsc.bcm.edu	37	chr20	54945628	54945628	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcatagcaaagaactccaagGctccagagatccaccttctc	6	14	2	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr20:54945628G>C	ENST00000371384.3	+	0	3046				AURKA_ENST00000395907.1_Missense_Mutation_p.S314R|AURKA_ENST00000395911.1_Missense_Mutation_p.S314R|AURKA_ENST00000395909.4_Missense_Mutation_p.S314R|AURKA_ENST00000395914.1_Missense_Mutation_p.S314R|AURKA_ENST00000395915.3_Missense_Mutation_p.S314R|AURKA_ENST00000395913.3_Missense_Mutation_p.S314R|AURKA_ENST00000312783.6_Missense_Mutation_p.S314R|AURKA_ENST00000371356.2_Missense_Mutation_p.S314R|AURKA_ENST00000347343.2_Missense_Mutation_p.S314R	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											GAACTCCAAGGCTCCAGAGAT	0.483																																					p.S314R		Atlas-SNP	.											.	AURKA	42	.	0			c.C942G						PASS	.						86	85	85					20																	54945628		2203	4300	6503	SO:0001628	intergenic_variant	6790	exon8			TCCAAGGCTCCAG	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945628G>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	92	31	0.336957	NM_198437	B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514015	0.64522	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.01	2.65	0.31530	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.998	T	0.71344	-0.4621	10	0.72032	D	0.01	-11.5994	10.6203	0.45476	0.2568:0.0:0.7432:0.0	.	246;314;314;314	B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;AURKA_HUMAN	R	314	ENSP00000379245:S314R;ENSP00000379250:S314R;ENSP00000216911:S314R;ENSP00000379251:S314R;ENSP00000321591:S314R;ENSP00000360407:S314R;ENSP00000379249:S314R;ENSP00000379247:S314R;ENSP00000379243:S314R	ENSP00000321591:S314R	S	-	3	2	AURKA	54379035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.239000	0.32719	1.239000	0.43787	0.650000	0.86243	AGC	.	.	none		0.483	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		C	54945628	G	C	54945628	1	2	21	0	1	0	0	0	0	0	0	0	1221	1194	42	4		4	AURKA	20	54945628	IGR	SNP	G	TCGA-FM-8000-01A-11D-2210-10	4631656	54945628	8079892	224	5098										
KRTAP27-1	643812	hgsc.bcm.edu	37	chr21	31709494	31709494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	actggattcagggttctgagActgacactgacattggctag	12	8	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr21:31709494A>G	ENST00000382835.2	-	1	518	c.493T>C	c.(493-495)Tct>Cct	p.S165P		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	165						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GGGTTCTGAGACTGACACTGA	0.483																																					p.S165P		Atlas-SNP	.											KRTAP27-1,colon,carcinoma,+1,1	KRTAP27-1	53	1	0			c.T493C						scavenged	.						132	126	128					21																	31709494		2203	4300	6503	SO:0001583	missense	643812	exon1			TCTGAGACTGACA	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.493T>C	21.37:g.31709494A>G	ENSP00000372286:p.Ser165Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	A	2.386	-0.341075	0.05243	.	.	ENSG00000206107	ENST00000382835	T	0.03889	3.77	.	.	.	.	1.550250	0.04106	N	0.313839	T	0.02304	0.0071	N	0.05414	-0.055	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38607	-0.9653	8	0.02654	T	1	3.4734	.	.	.	.	165	Q3LI81	KR271_HUMAN	P	165	ENSP00000372286:S165P	ENSP00000372286:S165P	S	-	1	0	KRTAP27-1	30631365	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TCT	.	.	none		0.483	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		G	31709494	A	G	31709494	3	3	21	1	0	0	0	0	1	0	0	0	8544	275	10	2	134	2	KRTAP27-1	21	31709494	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10		31709494	16420401	225	5099										
KRTAP21-1	337977	hgsc.bcm.edu	37	chr21	32127679	32127679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ccatagccacaggagttgccGtagtagttgcaacacatgtt	10	10	0	0	rs147444076		TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr21:32127679G>A	ENST00000335093.3	-	1	67	c.18C>T	c.(16-18)taC>taT	p.Y6Y		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	6						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						agGAGTTGCCGTAGTAGTTGC	0.517													g|||	1	0.000199681	0.0	0.0	5008	,	,		18266	0.0		0.001	False		,,,				2504	0.0				p.Y6Y		Atlas-SNP	.											KRTAP21-1,NS,carcinoma,0,1	KRTAP21-1	23	1	0			c.C18T						PASS	.	G		0,4406		0,0,2203	125	118	121		18	-2.4	0.1	21	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRTAP21-1	NM_181619.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		6/80	32127679	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	337977	exon1			GTTGCCGTAGTAG	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"Keratin associated proteins"	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.18C>T	21.37:g.32127679G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	34	19	0.558824	NM_181619		Silent	SNP	ENST00000335093.3	37	CCDS13606.1																																																																																			G|1.000;A|0.000	0.000	strong		0.517	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			A	32127679	G	A	32127679	2	1	21	1	0	0	0	0	0	0	0	1	8538	1140	40	1		1	KRTAP21-1	21	32127679	Silent	SNP	G	TCGA-FM-8000-01A-11D-2210-10	418185	32127679	16002216	226	5100										
RUNX1	861	hgsc.bcm.edu	37	chr21	36231789	36231789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	acttcgaggttctcggggccCatccactgtgattttgatgg	12	10	1	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr21:36231789C>T	ENST00000344691.4	-	3	2091	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	RUNX1_ENST00000437180.1_Missense_Mutation_p.G199R|RUNX1_ENST00000300305.3_Missense_Mutation_p.G199R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G172R|RUNX1_ENST00000399240.1_Missense_Mutation_p.G172R|RUNX1_ENST00000486278.2_Missense_Mutation_p.G175R|RUNX1_ENST00000325074.5_Missense_Mutation_p.G187R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	172	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G199R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTCGGGGCCCATCCACTGTG	0.557			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																p.G199R		Atlas-SNP	.		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	RUNX1,rectum,carcinoma,0,5	RUNX1	687	5	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G595A						scavenged	.						294	256	269					21																	36231789		2203	4300	6503	SO:0001583	missense	861	exon6			GGGGCCCATCCAC	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.514G>A	21.37:g.36231789C>T	ENSP00000340690:p.Gly172Arg	Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_001754	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698209	0.88830	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.12	5.12	0.69794	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91300	3.195	0.80722	D	1	D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;0.621;0.63;0.998;1.0	D;D;D;B;B;P;D	0.97110	0.996;1.0;0.999;0.367;0.361;0.882;1.0	D	0.96295	0.9217	10	0.87932	D	0	-11.5231	16.0721	0.80941	0.0:1.0:0.0:0.0	.	199;172;172;175;199;187;172	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	R	172;199;199;187;172;175;172;187;175	ENSP00000340690:G172R;ENSP00000300305:G199R;ENSP00000409227:G199R;ENSP00000319459:G187R;ENSP00000382184:G172R;ENSP00000351123:G172R;ENSP00000382182:G187R;ENSP00000438019:G175R	ENSP00000300305:G199R	G	-	1	0	RUNX1	35153659	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	GGG	.	.	none		0.557	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			T	36231789	C	T	36231789	3	4	21	1	0	0	0	0	1	0	0	0	13746	594	21	2	896	2	RUNX1	21	36231789	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	4104110	36231789	11898106	227	5101										
CHEK2	11200	hgsc.bcm.edu	37	chr22	29107902	29107902	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tttattggtacttactgcctCtcttgctgaaccaatagcaa	6	10	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chr22:29107902C>T	ENST00000405598.1	-	7	978	c.787G>A	c.(787-789)Gag>Aag	p.E263K	CHEK2_ENST00000382578.1_Missense_Mutation_p.E172K|CHEK2_ENST00000382580.2_Missense_Mutation_p.E306K|CHEK2_ENST00000404276.1_Missense_Mutation_p.E263K|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.E263K|CHEK2_ENST00000402731.1_Missense_Mutation_p.E263K|CHEK2_ENST00000382566.1_Missense_Mutation_p.E263K|CHEK2_ENST00000328354.6_Missense_Mutation_p.E263K|CHEK2_ENST00000403642.1_Missense_Mutation_p.E172K|CHEK2_ENST00000544772.1_Missense_Mutation_p.E42K|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTACTGCCTCTCTTGCTGAA	0.368			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.E306K		Atlas-SNP	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2	438	.	0			c.G916A						PASS	.						166	135	145					22																	29107902		2203	4300	6503	SO:0001583	missense	11200	exon7			CTGCCTCTCTTGC	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.787G>A	22.37:g.29107902C>T	ENSP00000386087:p.Glu263Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_001005735	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392506	0.42410	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000425190;ENST00000439200	D;T;T;T;T;T;T;T;T;D;T;T;D	0.93712	-1.65;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-1.65;-0.14;-0.14;-3.27	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.185810	0.47455	D	0.000221	D	0.85566	0.5726	N	0.13198	0.31	0.42139	D	0.991506	B;B;B;B;B;B;B	0.28933	0.002;0.228;0.008;0.101;0.082;0.039;0.137	B;B;B;B;B;B;B	0.27796	0.009;0.083;0.012;0.061;0.036;0.079;0.076	T	0.82928	-0.0214	10	0.10902	T	0.67	-1.9415	15.167	0.72837	0.0:1.0:0.0:0.0	.	263;172;42;263;263;263;306	O96017-7;O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;.;CHK2_HUMAN;.	K	263;172;42;263;263;263;263;306;172;263;196;42;294	ENSP00000329012:E263K;ENSP00000372021:E172K;ENSP00000442458:E42K;ENSP00000372007:E263K;ENSP00000329178:E263K;ENSP00000385747:E263K;ENSP00000386087:E263K;ENSP00000372023:E306K;ENSP00000384919:E172K;ENSP00000384835:E263K;ENSP00000397478:E196K;ENSP00000390244:E42K;ENSP00000408065:E294K	ENSP00000329178:E263K	E	-	1	0	CHEK2	27437902	0.978000	0.34361	0.162000	0.22713	0.680000	0.39746	2.867000	0.48428	2.339000	0.79563	0.591000	0.81541	GAG	.	.	none		0.368	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29107902	C	T	29107902	3	4	21	1	0	0	0	0	1	0	0	0	3335	922	32	2	884	2	CHEK2	22	29107902	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		29107902	22196664	228	5102										
MXRA5	25878	hgsc.bcm.edu	37	chrX	3242042	3242042	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	atataccatgcggtccatttCatccctcacttgagcaatgc	6	13	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:3242042C>A	ENST00000217939.6	-	5	1838	c.1684G>T	c.(1684-1686)Gaa>Taa	p.E562*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	562	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGTCCATTTCATCCCTCACT	0.527																																					p.E562X		Atlas-SNP	.											.	MXRA5	815	.	0			c.G1684T						PASS	.						53	39	44					X																	3242042		2203	4300	6503	SO:0001587	stop_gained	25878	exon5			CCATTTCATCCCT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1684G>T	X.37:g.3242042C>A	ENSP00000217939:p.Glu562*	Somatic	387	1	0.00258398		WXS	Illumina HiSeq	Phase_I	282	101	0.358156	NM_015419	Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.738582	0.96865	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.76	3.76	0.43208	.	0.000000	0.41194	U	0.000936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.7443	0.46170	0.1902:0.8098:0.0:0.0	.	.	.	.	X	562	.	ENSP00000217939:E562X	E	-	1	0	MXRA5	3252042	1.000000	0.71417	0.055000	0.19348	0.387000	0.30353	6.358000	0.73055	1.507000	0.48752	0.525000	0.51046	GAA	.	.	none		0.527	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3242042	C	A	3242042	4	1	21	1	0	0	0	0	0	1	0	0	10003	835	29	4	6814	4	MXRA5	23	3242042	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10		3242042	152028518	229	5103										
PCYT1B	9468	hgsc.bcm.edu	37	chrX	24608245	24608245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	tcgtatctctcggcttcattCatcacggtgaaacctttgaa	7	11	4	2			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:24608245C>A	ENST00000379144.2	-	4	511	c.381G>T	c.(379-381)atG>atT	p.M127I	PCYT1B_ENST00000356768.4_Missense_Mutation_p.M127I|PCYT1B_ENST00000379145.1_Missense_Mutation_p.M109I	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	127					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CGGCTTCATTCATCACGGTGA	0.473																																					p.M127I		Atlas-SNP	.											.	PCYT1B	88	.	0			c.G381T						PASS	.						142	109	121					X																	24608245		2203	4300	6503	SO:0001583	missense	9468	exon4			TTCATTCATCACG	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.381G>T	X.37:g.24608245C>A	ENSP00000368439:p.Met127Ile	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	114	43	0.377193	NM_004845	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743164	0.89663	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96041	-3.89;-3.89;-3.89	5.44	5.44	0.79542	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.62016	1.91	0.80722	D	1	D;P;P	0.56968	0.978;0.877;0.746	P;P;P	0.60236	0.871;0.823;0.686	D	0.97087	0.9788	10	0.62326	D	0.03	-23.8847	18.3331	0.90277	0.0:1.0:0.0:0.0	.	127;109;127	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	I	109;127;127	ENSP00000368440:M109I;ENSP00000368439:M127I;ENSP00000349211:M127I	ENSP00000349211:M127I	M	-	3	0	PCYT1B	24518166	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.320000	0.79064	2.524000	0.85096	0.600000	0.82982	ATG	.	.	none		0.473	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		A	24608245	C	A	24608245	3	1	21	1	0	0	0	0	1	0	0	0	11611	826	29	4	785	4	PCYT1B	23	24608245	Missense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	21366203	24608245	130662315	230	5104										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49088337	49088337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gggggcccggggcacagcccCcattcgggaccagggcctgc	17	16	0	0			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:49088337C>T	ENST00000376265.2	-	2	139	c.78G>A	c.(76-78)tgG>tgA	p.W26*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.W26*|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	26					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCACAGCCCCCATTCGGGAC	0.612																																					p.W26X		Atlas-SNP	.											.	CACNA1F	218	.	0			c.G78A						PASS	.						22	19	20					X																	49088337		2173	4252	6425	SO:0001587	stop_gained	778	exon2			CAGCCCCCATTCG	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.78G>A	X.37:g.49088337C>T	ENSP00000365441:p.Trp26*	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	70	19	0.271429	NM_001256789	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891730	0.91889	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	.	.	.	4.85	4.85	0.62838	.	0.890957	0.09424	N	0.804021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9927	0.41881	0.0:0.9014:0.0:0.0986	.	.	.	.	X	26	.	.	W	-	3	0	CACNA1F	48975281	0.139000	0.22563	1.000000	0.80357	0.747000	0.42532	0.576000	0.23744	2.155000	0.67459	0.436000	0.28706	TGG	.	.	none		0.612	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49088337	C	T	49088337	4	4	21	1	0	0	0	0	0	1	0	0	2543	624	22	2	6043	2	CACNA1F	23	49088337	Nonsense_Mutation	SNP	C	TCGA-FM-8000-01A-11D-2210-10	24480092	49088337	106182223	231	5105										
MTMR8	55613	hgsc.bcm.edu	37	chrX	63574801	63574801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ttataagaaaaagcataaagAtcttcaggtaatgctggaga	9	4	2	3			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:63574801A>T	ENST00000374852.3	-	4	391	c.324T>A	c.(322-324)gaT>gaA	p.D108E	MTMR8_ENST00000453546.1_Missense_Mutation_p.D108E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	108						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AAGCATAAAGATCTTCAGGTA	0.363																																					p.D108E		Atlas-SNP	.											.	MTMR8	178	.	1	Whole gene deletion(1)	ovary(1)	c.T324A						PASS	.						61	48	52					X																	63574801		2203	4300	6503	SO:0001583	missense	55613	exon4			ATAAAGATCTTCA	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.324T>A	X.37:g.63574801A>T	ENSP00000363985:p.Asp108Glu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	63	30	0.47619	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.868|8.868	0.948526|0.948526	0.18356|0.18356	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	T;T|.	0.81247|.	-1.47;-1.47|.	2.78|2.78	1.59|1.59	0.23543|0.23543	.|.	0.113616|.	0.32868|.	U|.	0.005558|.	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.01771|0.01771	-0.73|-0.73	0.27265|0.27265	N|N	0.958517|0.958517	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.29397|0.29397	-1.0013|-1.0013	10|5	0.10902|.	T|.	0.67|.	.|.	2.1307|2.1307	0.03749|0.03749	0.4848:0.0:0.2795:0.2356|0.4848:0.0:0.2795:0.2356	.|.	108;108|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	E|T	108;108;107|25	ENSP00000394003:D108E;ENSP00000363985:D108E|.	ENSP00000247400:D107E|.	D|S	-|-	3|1	2|0	MTMR8|MTMR8	63491526|63491526	0.857000|0.857000	0.29778|0.29778	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	-0.122000|-0.122000	0.10627|0.10627	0.349000|0.349000	0.23975|0.23975	-0.453000|-0.453000	0.05500|0.05500	GAT|TCT	.	.	none		0.363	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		T	63574801	A	T	63574801	3	4	21	1	0	0	0	0	1	0	0	0	9949	330	12	5	1834	5	MTMR8	23	63574801	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	14486464	63574801	91695759	232	5106										
RBMX2	51634	hgsc.bcm.edu	37	chrX	129545348	129545348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	ggaagaactatccgagtggaTcatgtgtctaactatcgggc	12	8	2	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:129545348T>C	ENST00000305536.6	+	5	394	c.330T>C	c.(328-330)gaT>gaC	p.D110D	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	110	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCCGAGTGGATCATGTGTCTA	0.478																																					p.D110D		Atlas-SNP	.											.	RBMX2	46	.	0			c.T330C						PASS	.						152	138	143					X																	129545348		1914	4108	6022	SO:0001819	synonymous_variant	51634	exon5			AGTGGATCATGTG	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.330T>C	X.37:g.129545348T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_016024	A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	CCDS43993.1																																																																																			.	.	none		0.478	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		C	129545348	T	C	129545348	2	2	21	1	0	0	0	0	0	0	0	1	13152	1432	50	2		2	RBMX2	23	129545348	Silent	SNP	T	TCGA-FM-8000-01A-11D-2210-10	65970547	129545348	25725212	233	5107										
L1CAM	3897	hgsc.bcm.edu	37	chrX	153128162	153128162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0432900432900433	10	1	0.484911202399992	0.630384563119989	0.472788422339992	0.0036074841836048	0.0147906851527797	0	gatgggggaagtggcccctgAgctgtcattgccccctgccg	15	13	1	1			TCGA-FM-8000-01A-11D-2210-10	TCGA-FM-8000-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	68ab7686-eb0b-4bdd-8e60-132917be4063	b1ed3024-96f1-49e2-bde2-851174877525	g.chrX:153128162A>G	ENST00000370060.1	-	29	3919	c.3730T>C	c.(3730-3732)Tca>Cca	p.S1244P	L1CAM_ENST00000370057.3_Missense_Mutation_p.S1244P|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1240P|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1235P|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1242P|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1235P|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1246P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1244					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCCCTGAGCTGTCATTG	0.602																																					p.S1244P		Atlas-SNP	.											.	L1CAM	189	.	0			c.T3730C						PASS	.						82	68	73					X																	153128162		2203	4300	6503	SO:0001583	missense	3897	exon28			CCCCTGAGCTGTC	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3730T>C	X.37:g.153128162A>G	ENSP00000359077:p.Ser1244Pro	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	98	29	0.295918	NM_000425	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916391	0.73098	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	T;T;T;T;T;T;D;T	0.85773	-0.16;-0.15;-0.16;-0.12;-0.1;-0.1;-2.03;-0.14	4.7	4.7	0.59300	.	0.000000	0.46758	D	0.000276	D	0.89058	0.6607	L	0.48362	1.52	0.46927	D	0.999252	D;P;P	0.89917	1.0;0.513;0.757	D;B;P	0.87578	0.998;0.395;0.45	D	0.89887	0.4034	10	0.87932	D	0	.	12.2435	0.54558	1.0:0.0:0.0:0.0	.	1235;1240;1244	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	P	1244;1246;1244;1242;1235;1235;140;1240	ENSP00000359077:S1244P;ENSP00000438430:S1246P;ENSP00000359074:S1244P;ENSP00000439645:S1242P;ENSP00000354712:S1235P;ENSP00000359072:S1235P;ENSP00000359075:S140P;ENSP00000355380:S1240P	ENSP00000355380:S1240P	S	-	1	0	L1CAM	152781356	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.828000	0.69307	1.732000	0.51606	0.430000	0.28490	TCA	.	.	none		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		G	153128162	A	G	153128162	3	3	21	1	0	0	0	0	1	0	0	0	8588	304	11	3	47	3	L1CAM	23	153128162	Missense_Mutation	SNP	A	TCGA-FM-8000-01A-11D-2210-10	23582814	153128162	2142398	234	5108										
SAMD11	148398	hgsc.bcm.edu	37	chr1	865694	865694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagcaggaggatggtccgCacatccgtatcatgaagaga	13	8	1	3	rs9988179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:865694C>T	ENST00000342066.3	+	3	315	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	AL645608.1_ENST00000598827.1_Missense_Mutation_p.C18Y	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	78					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGATGGTCCGCACATCCGTAT	0.622													c|||	263	0.052516	0.0227	0.0965	5008	,	,		17146	0.1389		0.002	False		,,,				2504	0.0245				p.H78Y		Atlas-SNP	.											.	SAMD11	34	.	0			c.C232T						PASS	.	C	TYR/HIS	81,4307		2,77,2115	45	45	45		232	4.7	0	1	dbSNP_119	45	14,8580		0,14,4283	yes	missense	SAMD11	NM_152486.2	83	2,91,6398	TT,TC,CC		0.1629,1.8459,0.7318	probably-damaging	78/682	865694	95,12887	2194	4297	6491	SO:0001583	missense	148398	exon3			GGTCCGCACATCC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.232C>T	1.37:g.865694C>T	ENSP00000342313:p.His78Tyr	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	242	112	0.46281	NM_152486	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	136	0.06227106227106227	14	0.028455284552845527	29	0.08011049723756906	91	0.1590909090909091	2	0.002638522427440633	c	14.40	2.525243	0.44969	0.018459	0.001629	ENSG00000187634	ENST00000420190;ENST00000437963;ENST00000342066	.	.	.	4.72	4.72	0.59763	.	0.195015	0.32372	N	0.006184	T	0.00271	0.0008	L	0.29908	0.895	0.33508	P	0.409276	D	0.61080	0.989	P	0.50314	0.637	T	0.06197	-1.0840	8	0.87932	D	0	-7.4627	17.0604	0.86546	0.0:1.0:0.0:0.0	rs9988179	78	Q96NU1	SAM11_HUMAN	Y	78	.	ENSP00000342313:H78Y	H	+	1	0	SAMD11	855557	0.077000	0.21312	0.008000	0.14137	0.268000	0.26511	3.430000	0.52807	2.369000	0.80426	0.556000	0.70494	CAC	C|0.974;T|0.026	0.026	strong		0.622	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		T	865694	C	T	865694	3	4	22	1	0	0	0	0	1	0	0	0	13816	710	25	2	238	2	SAMD11	1	865694	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10		865694	248384927	1	5109										
SAMD11	148398	hgsc.bcm.edu	37	chr1	871215	871215	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgccacctcgttatgccCgagcatcagagccgctgtga	11	15	1	2	rs28419423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:871215C>G	ENST00000342066.3	+	5	452	c.369C>G	c.(367-369)ccC>ccG	p.P123P		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	123					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCGTTATGCCCGAGCATCAGA	0.672													t|||	268	0.0535144	0.0197	0.0937	5008	,	,		15217	0.1438		0.004	False		,,,				2504	0.0286				p.P123P		Atlas-SNP	.											.	SAMD11	34	.	0			c.C369G						PASS	.	T		115,4291	85.8+/-124.5	4,107,2092	84	79	81		369	-6.4	0.9	1	dbSNP_125	81	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous	SAMD11	NM_152486.2		4,127,6372	GG,GC,CC		0.2326,2.6101,1.038		123/682	871215	135,12871	2203	4300	6503	SO:0001819	synonymous_variant	148398	exon5			TATGCCCGAGCAT	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.369C>G	1.37:g.871215C>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	189	108	0.571429	NM_152486	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Silent	SNP	ENST00000342066.3	37	CCDS2.2	138	0.06318681318681318	14	0.028455284552845527	28	0.07734806629834254	94	0.16433566433566432	2	0.002638522427440633	c	3.143	-0.175812	0.06421	0.026101	0.002326	ENSG00000187634	ENST00000341065	.	.	.	3.9	-6.39	0.01951	.	0.000000	0.64402	D	0.000003	T	0.00144	0.0004	.	.	.	0.09310	P	0.9999999999932871	.	.	.	.	.	.	T	0.08330	-1.0727	5	0.87932	D	0	-20.2514	3.3004	0.06980	0.1265:0.1727:0.1253:0.5756	rs28419423	.	.	.	R	47	.	ENSP00000349216:P47R	P	+	2	0	SAMD11	861078	0.023000	0.18921	0.926000	0.36857	0.856000	0.48823	-1.339000	0.02652	-1.310000	0.02312	-2.077000	0.00380	CCG	C|0.975;G|0.025	0.025	strong		0.672	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		G	871215	C	G	871215	2	3	22	1	0	0	0	0	0	0	0	1	13816	639	23	4		4	SAMD11	1	871215	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5521	871215	248379406	2	5110										
NOC2L	26155	hgsc.bcm.edu	37	chr1	889421	889421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaagccttgatgtccacaCgaagcttcccccagagcggg	12	13	0	2	rs3828050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:889421C>T	ENST00000327044.6	-	7	789	c.740G>A	c.(739-741)cGt>cAt	p.R247H	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	247					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.R247L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GATGTCCACACGAAGCTTCCC	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		16641	0.002		0.0	False		,,,				2504	0.0				p.R247H		Atlas-SNP	.											NOC2L,NS,carcinoma,0,1	NOC2L	42	1	1	Substitution - Missense(1)	lung(1)	c.G740A						PASS	.						87	84	85					1																	889421		2203	4300	6503	SO:0001583	missense	26155	exon7			TCCACACGAAGCT	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.740G>A	1.37:g.889421C>T	ENSP00000317992:p.Arg247His	Somatic	288	1	0.00347222		WXS	Illumina HiSeq	Phase_I	275	143	0.52	NM_015658	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.92	1.783028	0.31593	.	.	ENSG00000188976	ENST00000327044	T	0.67698	-0.28	4.11	4.11	0.48088	Armadillo-type fold (1);	0.152310	0.44688	D	0.000440	T	0.62732	0.2452	L	0.53249	1.67	0.51767	D	0.99993	B;B;B	0.22146	0.065;0.065;0.031	B;B;B	0.18561	0.022;0.022;0.01	T	0.65730	-0.6097	10	0.66056	D	0.02	-17.7817	15.5423	0.76062	0.0:1.0:0.0:0.0	rs3828050	247;247;14	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	H	247	ENSP00000317992:R247H	ENSP00000317992:R247H	R	-	2	0	NOC2L	879284	0.999000	0.42202	0.993000	0.49108	0.561000	0.35649	4.286000	0.58995	2.135000	0.66039	0.306000	0.20318	CGT	C|0.999;T|0.001	0.001	strong		0.647	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		T	889421	C	T	889421	3	4	22	1	0	0	0	0	1	0	0	0	10513	536	19	1	1561	1	NOC2L	1	889421	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18206	889421	248361200	3	5111										
PLEKHN1	84069	hgsc.bcm.edu	37	chr1	902128	902128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcctgccgggccccgaggCtgctcgaagcggggacgccg	18	16	0	0	rs28499371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:902128C>T	ENST00000379409.2	+	2	158	c.128C>T	c.(127-129)gCt>gTt	p.A43V	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.A43V|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.A43V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	43										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)		GGCCCCGAGGCTGCTCGAAGC	0.726													C|||	281	0.0561102	0.0295	0.0922	5008	,	,		12661	0.1409		0.003	False		,,,				2504	0.0337				p.A43V		Atlas-SNP	.											.	PLEKHN1	49	.	0			c.C128T						PASS	.	C	VAL/ALA,VAL/ALA	103,4037		1,101,1968	6	9	8		128,128	1.7	0.1	1	dbSNP_125	8	16,8166		0,16,4075	yes	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	64,64	1,117,6043	TT,TC,CC		0.1956,2.4879,0.9658	possibly-damaging,possibly-damaging	43/577,43/612	902128	119,12203	2070	4091	6161	SO:0001583	missense	84069	exon2			CCGAGGCTGCTCG	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.128C>T	1.37:g.902128C>T	ENSP00000368719:p.Ala43Val	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	15	6	0.4	NM_001160184	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37		135	0.061813186813186816	17	0.034552845528455285	28	0.07734806629834254	88	0.15384615384615385	2	0.002638522427440633	C	11.69	1.714499	0.30413	0.024879	0.001956	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.52057	0.7;0.7;0.68	5.01	1.74	0.24563	.	0.656433	0.13318	N	0.396910	T	0.00210	0.0006	L	0.32530	0.975	0.80722	P	0.0	B;B;B	0.28350	0.033;0.208;0.11	B;B;B	0.26202	0.067;0.063;0.018	T	0.06954	-1.0798	9	0.62326	D	0.03	.	6.8953	0.24253	0.0:0.6193:0.1899:0.1909	rs28499371	43;43;43	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	V	43	ENSP00000368720:A43V;ENSP00000368717:A43V;ENSP00000368719:A43V	ENSP00000368717:A43V	A	+	2	0	PLEKHN1	891991	0.000000	0.05858	0.098000	0.21074	0.024000	0.10985	-0.081000	0.11321	0.510000	0.28216	0.558000	0.71614	GCT	C|0.935;T|0.065	0.065	strong		0.726	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		T	902128	C	T	902128	3	4	22	1	0	0	0	0	1	0	0	0	12083	797	28	2	134	2	PLEKHN1	1	902128	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12707	902128	248348493	4	5112										
PLEKHN1	84069	hgsc.bcm.edu	37	chr1	909238	909238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgccatgcagagtgcacGtggacccacgccctcgagcc	12	16	0	1	rs3829740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:909238G>C	ENST00000379409.2	+	13	1646	c.1616G>C	c.(1615-1617)cGt>cCt	p.R539P	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R487P|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R452P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	539			R -> P (in dbSNP:rs3829740). {ECO:0000269|PubMed:11230166}.							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)		CAGAGTGCACGTGGACCCACG	0.692													C|||	3889	0.776558	0.8169	0.6931	5008	,	,		15120	0.8869		0.6183	False		,,,				2504	0.8303				p.R487P		Atlas-SNP	.											.	PLEKHN1	49	.	0			c.G1460C						PASS	.	C	PRO/ARG,PRO/ARG	3431,963	343.3+/-307.6	1335,761,101	27	33	31		1355,1460	2.5	0	1	dbSNP_107	31	5009,3579	498.1+/-374.7	1490,2029,775	yes	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	103,103	2825,2790,876	CC,CG,GG		41.6744,21.9162,34.9869	benign,benign	452/577,487/612	909238	8440,4542	2197	4294	6491	SO:0001583	missense	84069	exon14			GTGCACGTGGACC	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.1616G>C	1.37:g.909238G>C	ENSP00000368719:p.Arg539Pro	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	131	130	0.992366	NM_032129	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37		1609	0.7367216117216118	399	0.8109756097560976	242	0.6685082872928176	508	0.8881118881118881	460	0.6068601583113457	C	2.592	-0.294888	0.05568	0.780838	0.583256	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.41758	0.99;1.0;1.0	4.65	2.45	0.29901	.	0.680154	0.13101	N	0.413783	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15752	-1.0426	9	0.30078	T	0.28	.	2.6504	0.04998	0.0:0.354:0.2625:0.3834	rs3829740;rs3892468;rs59832503	452;539;487	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	P	487;452;539	ENSP00000368720:R487P;ENSP00000368717:R452P;ENSP00000368719:R539P	ENSP00000368717:R452P	R	+	2	0	PLEKHN1	899101	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	0.311000	0.19380	0.456000	0.26937	-0.546000	0.04227	CGT	G|0.322;C|0.678	0.678	strong		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		C	909238	G	C	909238	3	2	22	1	0	0	0	0	1	0	0	0	12083	1145	40	4	1550	4	PLEKHN1	1	909238	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7110	909238	248341383	5	5113										
AGRN	375790	hgsc.bcm.edu	37	chr1	978804	978804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacggcctgtaccctcgggCgggagatccaggtggcgcgc	16	15	0	1	rs144164397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:978804C>T	ENST00000379370.2	+	8	1620	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	524	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TACCCTCGGGCGGGAGATCCA	0.687													C|||	6	0.00119808	0.003	0.0029	5008	,	,		13574	0.0		0.0	False		,,,				2504	0.0				p.R524W		Atlas-SNP	.											.	AGRN	110	.	0			c.C1570T						PASS	.	C	TRP/ARG	12,4360		0,12,2174	32	33	32		1570	3.8	0.6	1	dbSNP_134	32	0,8582		0,0,4291	yes	missense	AGRN	NM_198576.3	101	0,12,6465	TT,TC,CC		0.0,0.2745,0.0926	probably-damaging	524/2046	978804	12,12942	2186	4291	6477	SO:0001583	missense	375790	exon8			CTCGGGCGGGAGA	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1570C>T	1.37:g.978804C>T	ENSP00000368678:p.Arg524Trp	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_198576	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.96	2.987733	0.53934	0.002745	0.0	ENSG00000188157	ENST00000379370	T	0.04454	3.62	4.76	3.76	0.43208	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.533856	0.15977	N	0.235503	T	0.20941	0.0504	M	0.82433	2.59	0.37536	D	0.918126	D	0.89917	1.0	D	0.77557	0.99	T	0.02275	-1.1184	10	0.87932	D	0	-11.7757	9.9656	0.41723	0.4775:0.5225:0.0:0.0	.	524	O00468	AGRIN_HUMAN	W	524	ENSP00000368678:R524W	ENSP00000368678:R524W	R	+	1	2	AGRN	968667	0.998000	0.40836	0.597000	0.28824	0.014000	0.08584	3.246000	0.51414	2.195000	0.70347	0.655000	0.94253	CGG	C|0.999;T|0.001	0.001	strong		0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	978804	C	T	978804	3	4	22	1	0	0	0	0	1	0	0	0	397	759	27	1	1600	1	AGRN	1	978804	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69566	978804	248271817	6	5114										
AGRN	375790	hgsc.bcm.edu	37	chr1	979748	979748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtcacctacagcaccgAgtgtgagctgaagaaggcca	14	10	1	3	rs113288277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:979748A>T	ENST00000379370.2	+	12	2233	c.2183A>T	c.(2182-2184)gAg>gTg	p.E728V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	728	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.		E -> V (in dbSNP:rs113288277). {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TACAGCACCGAGTGTGAGCTG	0.692													A|||	92	0.0183706	0.0008	0.0159	5008	,	,		14997	0.0079		0.0467	False		,,,				2504	0.0256				p.E728V		Atlas-SNP	.											.	AGRN	110	.	0			c.A2183T						PASS	.	A	VAL/GLU	38,4366	40.0+/-72.8	0,38,2164	40	39	39		2183	4.6	1	1	dbSNP_132	39	366,8232	121.1+/-180.3	10,346,3943	yes	missense	AGRN	NM_198576.3	121	10,384,6107	TT,TA,AA		4.2568,0.8629,3.1072	probably-damaging	728/2046	979748	404,12598	2202	4299	6501	SO:0001583	missense	375790	exon12			GCACCGAGTGTGA	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2183A>T	1.37:g.979748A>T	ENSP00000368678:p.Glu728Val	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	164	84	0.512195	NM_198576	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	42	0.019230769230769232	1	0.0020325203252032522	7	0.019337016574585635	2	0.0034965034965034965	32	0.04221635883905013	A	15.76	2.929878	0.52759	0.008629	0.042568	ENSG00000188157	ENST00000379370	T	0.04758	3.56	4.58	4.58	0.56647	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.64402	D	0.000004	T	0.04952	0.0133	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.00119	-1.2032	10	0.56958	D	0.05	-27.4006	13.9535	0.64133	1.0:0.0:0.0:0.0	.	728	O00468	AGRIN_HUMAN	V	728	ENSP00000368678:E728V	ENSP00000368678:E728V	E	+	2	0	AGRN	969611	1.000000	0.71417	0.964000	0.40570	0.122000	0.20287	5.688000	0.68227	1.686000	0.51046	0.533000	0.62120	GAG	A|0.975;T|0.025	0.025	strong		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	979748	A	T	979748	3	4	22	1	0	0	0	0	1	0	0	0	397	304	11	5	2229	5	AGRN	1	979748	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	944	979748	248270873	7	5115										
AGRN	375790	hgsc.bcm.edu	37	chr1	985900	985900	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggacggcaagggggacttCgtgtcgctggcactgcggga	18	10	0	0	rs17160776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:985900C>T	ENST00000379370.2	+	29	5120	c.5070C>T	c.(5068-5070)ttC>ttT	p.F1690F		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1690	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGGGGACTTCGTGTCGCTGG	0.692													C|||	224	0.0447284	0.1475	0.0173	5008	,	,		13702	0.0		0.0109	False		,,,				2504	0.0061				p.F1690F		Atlas-SNP	.											.	AGRN	110	.	0			c.C5070T						PASS	.	C		537,3869	231.7+/-245.5	40,457,1706	37	46	43		5070	-4.1	1	1	dbSNP_123	43	72,8524	41.2+/-98.3	0,72,4226	no	coding-synonymous	AGRN	NM_198576.3		40,529,5932	TT,TC,CC		0.8376,12.1879,4.6839		1690/2046	985900	609,12393	2203	4298	6501	SO:0001819	synonymous_variant	375790	exon29			GGACTTCGTGTCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5070C>T	1.37:g.985900C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	154	66	0.428571	NM_198576	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1																																																																																			C|0.953;T|0.047	0.047	strong		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	985900	C	T	985900	2	4	22	1	0	0	0	0	0	0	0	1	397	883	31	1		1	AGRN	1	985900	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6152	985900	248264721	8	5116										
TTLL10	254173	hgsc.bcm.edu	37	chr1	1118275	1118275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaacccagatatggatctgCaagcccacagcctccaacca	7	15	1	1	rs61733845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1118275C>T	ENST00000379290.1	+	11	1109	c.936C>T	c.(934-936)tgC>tgT	p.C312C	TTLL10_ENST00000379289.1_Silent_p.C312C|TTLL10_ENST00000379288.3_Silent_p.C239C			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	312	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TATGGATCTGCAAGCCCACAG	0.672													c|||	930	0.185703	0.4123	0.121	5008	,	,		13615	0.0407		0.0447	False		,,,				2504	0.2198				p.C312C		Atlas-SNP	.											.	TTLL10	66	.	0			c.C936T						PASS	.		,	1688,2698		321,1046,826	29	22	24		936,717	2.6	1	1	dbSNP_129	24	418,8166		10,398,3884	no	coding-synonymous,coding-synonymous	TTLL10	NM_001130045.1,NM_153254.2	,	331,1444,4710	TT,TC,CC		4.8695,38.4861,16.2375	,	312/674,239/405	1118275	2106,10864	2193	4292	6485	SO:0001819	synonymous_variant	254173	exon11			GATCTGCAAGCCC	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.936C>T	1.37:g.1118275C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	153	78	0.509804	NM_001130045	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	CCDS44036.1																																																																																			C|0.845;T|0.155	0.155	strong		0.672	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		T	1118275	C	T	1118275	2	4	22	1	0	0	0	0	0	0	0	1	16720	718	25	2		2	TTLL10	1	1118275	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	132375	1118275	248132346	9	5117										
TNFRSF18	8784	hgsc.bcm.edu	37	chr1	1141824	1141824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcgcgcgtccgttcccGtcccaagcaggaggcgccca	13	17	0	0	rs11466676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1141824G>C	ENST00000379268.2	-	1	247	c.128C>G	c.(127-129)aCg>aGg	p.T43R	TNFRSF18_ENST00000486728.1_5'Flank|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.T43R|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.T43R	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	43			T -> R (in dbSNP:rs11466676).		apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCCGTTCCCGTCCCAAGCAG	0.716													g|||	238	0.047524	0.1702	0.0173	5008	,	,		12979	0.0		0.001	False		,,,				2504	0.0				p.T43R	GBM(157;472 1934 13810 14591 35952)	Atlas-SNP	.											.	TNFRSF18	13	.	0			c.C128G						PASS	.	G	ARG/THR,ARG/THR,ARG/THR	308,3220		10,288,1466	4	5	5		128,128,128	2.1	0	1	dbSNP_120	5	2,7088		0,2,3543	no	missense,missense,missense	TNFRSF18	NM_004195.2,NM_148901.1,NM_148902.1	71,71,71	10,290,5009	CC,CG,GG		0.0282,8.7302,2.9196	benign,benign,benign	43/242,43/256,43/235	1141824	310,10308	1764	3545	5309	SO:0001583	missense	8784	exon1			GTTCCCGTCCCAA	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.128C>G	1.37:g.1141824G>C	ENSP00000368570:p.Thr43Arg	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	22	9	0.409091	NM_148902	B1AME1|O95851|Q5U0I4|Q9NYJ9	Missense_Mutation	SNP	ENST00000379268.2	37	CCDS10.1	84	0.038461538461538464	75	0.1524390243902439	6	0.016574585635359115	2	0.0034965034965034965	1	0.0013192612137203166	G	12.07	1.828233	0.32329	0.087302	2.82E-4	ENSG00000186891	ENST00000328596;ENST00000379268;ENST00000379265	T;T;T	0.60171	1.64;0.31;0.21	3.1	2.14	0.27477	.	0.907582	0.08998	U	0.863377	T	0.00524	0.0017	L	0.50333	1.59	0.80722	P	0.0	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.52309	0.695;0.673;0.582	T	0.11084	-1.0602	9	0.87932	D	0	-4.6596	8.7668	0.34708	0.0:0.233:0.767:0.0	rs11466676	43;43;43	Q9Y5U5-2;Q9Y5U5;B1AME3	.;TNR18_HUMAN;.	R	43	ENSP00000328207:T43R;ENSP00000368570:T43R;ENSP00000368567:T43R	ENSP00000328207:T43R	T	-	2	0	TNFRSF18	1131687	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.161000	0.10026	0.563000	0.29222	0.462000	0.41574	ACG	G|0.955;C|0.045	0.045	strong		0.716	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		C	1141824	G	C	1141824	3	2	22	1	0	0	0	0	1	0	0	0	16288	1145	40	4	870	4	TNFRSF18	1	1141824	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23549	1141824	248108797	10	5118										
SCNN1D	6339	hgsc.bcm.edu	37	chr1	1226063	1226063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacctccaggtggccttccGccaagtcagctgtgagtccc	12	15	1	1	rs13306651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1226063G>A	ENST00000338555.2	+	12	2558	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	SCNN1D_ENST00000400928.3_Missense_Mutation_p.A472T|SCNN1D_ENST00000325425.8_Missense_Mutation_p.A538T|SCNN1D_ENST00000379116.5_Missense_Mutation_p.A636T			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	472			A -> T (in dbSNP:rs13306651).		ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GTGGCCTTCCGCCAAGTCAGC	0.642													G|||	92	0.0183706	0.0174	0.0115	5008	,	,		15249	0.0099		0.0159	False		,,,				2504	0.0358				p.A636T		Atlas-SNP	.											.	SCNN1D	60	.	0			c.G1906A						PASS	.		THR/ALA	70,4308	64.1+/-101.4	0,70,2119	46	46	46		1906	-0.5	0.8	1	dbSNP_121	46	131,8441	66.3+/-128.7	2,127,4157	yes	missense	SCNN1D	NM_001130413.3	58	2,197,6276	AA,AG,GG		1.5282,1.5989,1.5521	benign	636/803	1226063	201,12749	2189	4286	6475	SO:0001583	missense	6339	exon15			CCTTCCGCCAAGT	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1414G>A	1.37:g.1226063G>A	ENSP00000339504:p.Ala472Thr	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_001130413	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		33|33	0.01510989010989011|0.01510989010989011	9|9	0.018292682926829267|0.018292682926829267	5|5	0.013812154696132596|0.013812154696132596	7|7	0.012237762237762238|0.012237762237762238	12|12	0.0158311345646438|0.0158311345646438	g|g	7.229|7.229	0.598909|0.598909	0.13939|0.13939	0.015989|0.015989	0.015282|0.015282	ENSG00000162572|ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928|ENST00000379099	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	3.35|3.35	-0.489|-0.489	0.12052|0.12052	.|.	3.341150|.	0.01821|.	U|.	0.034076|.	T|T	0.12433|0.12433	0.0302|0.0302	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	P;P;D|.	0.58970|.	0.784;0.642;0.984|.	B;B;B|.	0.38458|.	0.274;0.169;0.173|.	T|T	0.21008|0.21008	-1.0258|-1.0258	10|5	0.18276|.	T|.	0.48|.	.|.	3.3384|3.3384	0.07110|0.07110	0.1217:0.1151:0.5221:0.2411|0.1217:0.1151:0.5221:0.2411	rs13306651;rs13306651|rs13306651;rs13306651	294;472;636|.	B1AMF2;P51172;A6NNF7|.	.;SCNND_HUMAN;.|.	T|H	503;636;472;538;472|288	ENSP00000368411:A636T;ENSP00000339504:A472T;ENSP00000321594:A538T;ENSP00000383717:A472T|.	ENSP00000321594:A538T|.	A|R	+|+	1|2	0|0	SCNN1D|SCNN1D	1215926|1215926	0.000000|0.000000	0.05858|0.05858	0.828000|0.828000	0.32881|0.32881	0.711000|0.711000	0.40976|0.40976	-0.651000|-0.651000	0.05372|0.05372	0.069000|0.069000	0.16605|0.16605	0.299000|0.299000	0.19835|0.19835	GCC|CGC	G|0.984;A|0.016	0.016	strong		0.642	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1226063	G	A	1226063	3	1	22	1	0	0	0	0	1	0	0	0	13929	1087	38	1	1658	1	SCNN1D	1	1226063	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84239	1226063	248024558	11	5119										
TAS1R3	83756	hgsc.bcm.edu	37	chr1	1269488	1269488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcttcggcctagcgcacGccaccaatgccacgctggcc	10	18	1	0	rs112507608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1269488G>A	ENST00000339381.5	+	6	2235	c.2203G>A	c.(2203-2205)Gcc>Acc	p.A735T		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	735					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCTAGCGCACGCCACCAATGC	0.677													g|||	299	0.0597045	0.2148	0.0202	5008	,	,		18080	0.0		0.001	False		,,,				2504	0.0				p.A735T		Atlas-SNP	.											.	TAS1R3	39	.	0			c.G2203A						PASS	.	G	THR/ALA	825,3533		76,673,1430	31	17	22		2203	-1	0	1	dbSNP_132	22	6,8566		0,6,4280	yes	missense	TAS1R3	NM_152228.1	58	76,679,5710	AA,AG,GG		0.07,18.9307,6.4269	benign	735/853	1269488	831,12099	2179	4286	6465	SO:0001583	missense	83756	exon6			GCGCACGCCACCA	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2203G>A	1.37:g.1269488G>A	ENSP00000344411:p.Ala735Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_152228	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	110	0.05036630036630037	102	0.2073170731707317	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	G	5.972	0.363238	0.11296	0.189307	7.0E-4	ENSG00000169962	ENST00000339381	D	0.88741	-2.42	4.35	-1.05	0.10036	GPCR, family 3, C-terminal (2);	0.499914	0.20112	N	0.098990	T	0.00210	0.0006	L	0.33485	1.01	0.80722	P	0.0	B	0.18166	0.026	B	0.14578	0.011	T	0.24119	-1.0169	9	0.62326	D	0.03	.	9.7028	0.40198	0.4805:0.0:0.5195:0.0	.	735	Q7RTX0	TS1R3_HUMAN	T	735	ENSP00000344411:A735T	ENSP00000344411:A735T	A	+	1	0	TAS1R3	1259351	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.420000	0.21263	-0.093000	0.12396	0.456000	0.33151	GCC	G|0.933;A|0.067	0.067	strong		0.677	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			A	1269488	G	A	1269488	3	1	22	1	0	0	0	0	1	0	0	0	15561	1087	38	1	2225	1	TAS1R3	1	1269488	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43425	1269488	247981133	12	5120										
DVL1	1855	hgsc.bcm.edu	37	chr1	1277183	1277183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtgcccattggtccgggCggctgtgggggcagcaggtt	20	9	0	0	rs61735963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1277183C>T	ENST00000378888.5	-	5	753	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	DVL1_ENST00000378891.5_Missense_Mutation_p.A157T			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	157				A -> P (in Ref. 1; AAB65242). {ECO:0000305}.	axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TTGGTCCGGGCGGCTGTGGGG	0.687													c|||	329	0.0656949	0.2375	0.0202	5008	,	,		17330	0.0		0.001	False		,,,				2504	0.0				p.A157T		Atlas-SNP	.											.	DVL1	36	.	0			c.G469A						PASS	.	C	THR/ALA	898,3474		85,728,1373	14	14	14		469	-3.4	0	1	dbSNP_129	14	9,8557		0,9,4274	yes	missense	DVL1	NM_004421.2	58	85,737,5647	TT,TC,CC		0.1051,20.5398,7.0104	benign	157/671	1277183	907,12031	2186	4283	6469	SO:0001583	missense	1855	exon5			TCCGGGCGGCTGT	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.469G>A	1.37:g.1277183C>T	ENSP00000368166:p.Ala157Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_004421	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37		122	0.055860805860805864	114	0.23170731707317074	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	8.305	0.820817	0.16678	0.205398	0.001051	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	T;T	0.04917	3.53;3.53	4.02	-3.44	0.04796	.	0.469288	0.22130	N	0.064219	T	0.00012	0.0000	N	0.04880	-0.145	0.45621	P	0.0014420000000000543	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	9	0.07813	T	0.8	.	0.2996	0.00271	0.3245:0.167:0.1548:0.3536	.	157	O14640-2	.	T	157	ENSP00000368169:A157T;ENSP00000368166:A157T	ENSP00000340031:A157T	A	-	1	0	DVL1	1267046	0.188000	0.23250	0.019000	0.16419	0.398000	0.30690	0.396000	0.20867	-0.463000	0.06973	0.205000	0.17691	GCC	C|0.931;T|0.069	0.069	strong		0.687	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		T	1277183	C	T	1277183	3	4	22	1	0	0	0	0	1	0	0	0	4835	768	27	1	1587	1	DVL1	1	1277183	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7695	1277183	247973438	13	5121										
MXRA8	54587	hgsc.bcm.edu	37	chr1	1290408	1290408	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagtgcaccacctgttgAgcctcctccacgtgccggtc	9	18	0	1	rs147996767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1290408A>G	ENST00000309212.6	-	5	633	c.603T>C	c.(601-603)gcT>gcC	p.A201A	MXRA8_ENST00000342753.4_Silent_p.A100A|MXRA8_ENST00000445648.2_Silent_p.A201A|MXRA8_ENST00000477278.2_Silent_p.A192A	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	201	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCACCTGTTGAGCCTCCTCCA	0.751													-|||	361	0.0720847	0.2579	0.0274	5008	,	,		8344	0.0		0.001	False		,,,				2504	0.0				p.A201A		Atlas-SNP	.											.	MXRA8	28	.	0			c.T603C						PASS	.			722,3238		65,592,1323	7	9	9		603	-0.7	1	1	dbSNP_134	9	6,7864		0,6,3929	no	coding-synonymous	MXRA8	NM_032348.2		65,598,5252	GG,GA,AA		0.0762,18.2323,6.1538		201/443	1290408	728,11102	1980	3935	5915	SO:0001819	synonymous_variant	54587	exon5			CTGTTGAGCCTCC	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.603T>C	1.37:g.1290408A>G		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	14	7	0.5	NM_032348	B3KTR6|B4DE34|Q5TA39|Q96KC3	Silent	SNP	ENST00000309212.6	37	CCDS24.1																																																																																			A|0.939;G|0.061	0.061	strong		0.751	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		G	1290408	A	G	1290408	2	3	22	1	0	0	0	0	0	0	0	1	10005	291	11	3		3	MXRA8	1	1290408	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13225	1290408	247960213	14	5122										
ATAD3C	219293	hgsc.bcm.edu	37	chr1	1403894	1403894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcctgggcccgaggacgAgcaaccctcatcctgagtcc	13	15	1	1	rs145079480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1403894A>G	ENST00000378785.2	+	12	2215	c.1220A>G	c.(1219-1221)gAg>gGg	p.E407G		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	407							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGAGGACGAGCAACCCTCA	0.642													N|||	127	0.0253594	0.0923	0.0072	5008	,	,		14787	0.0		0.0	False		,,,				2504	0.0				p.E407G		Atlas-SNP	.											.	ATAD3C	23	.	0			c.A1220G						PASS	.	A	GLY/GLU	425,3979		20,385,1797	22	25	24		1220	-0.4	0	1	dbSNP_134	24	0,8590		0,0,4295	no	missense	ATAD3C	NM_001039211.2	98	20,385,6092	GG,GA,AA		0.0,9.6503,3.2707	benign	407/412	1403894	425,12569	2202	4295	6497	SO:0001583	missense	219293	exon12			AGGACGAGCAACC	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1220A>G	1.37:g.1403894A>G	ENSP00000368062:p.Glu407Gly	Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	276	108	0.391304	NM_001039211	Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	CCDS44039.1	60	0.027472527472527472	56	0.11382113821138211	4	0.011049723756906077	0	0.0	0	0.0	.	5.440	0.266325	0.10294	0.096503	0.0	ENSG00000215915	ENST00000378785	D	0.94184	-3.37	1.1	-0.358	0.12575	.	.	.	.	.	T	0.13329	0.0323	L	0.36672	1.1	0.80722	P	0.0	B	0.22480	0.07	B	0.19148	0.024	T	0.57980	-0.7717	8	0.34782	T	0.22	.	4.8484	0.13524	0.6826:0.3174:0.0:0.0	.	407	Q5T2N8	ATD3C_HUMAN	G	407	ENSP00000368062:E407G	ENSP00000368062:E407G	E	+	2	0	ATAD3C	1393757	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.745000	0.26259	-0.095000	0.12351	0.163000	0.16589	GAG	A|0.972;G|0.028	0.028	strong		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		G	1403894	A	G	1403894	3	3	22	1	0	0	0	0	1	0	0	0	1075	304	11	3	1266	3	ATAD3C	1	1403894	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113486	1403894	247846727	15	5123										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1421531	1421531	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgacatcgccatagcaacCaggaacaccaagaagaaccg	9	14	0	2	rs819976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1421531C>A	ENST00000308647.7	+	10	1121	c.1005C>A	c.(1003-1005)acC>acA	p.T335T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	335						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCATAGCAACCAGGAACACCA	0.642													N|||	2417	0.482628	0.8502	0.3228	5008	,	,		17732	0.622		0.0924	False		,,,				2504	0.3569				p.T335T		Atlas-SNP	.											.	ATAD3B	68	.	0			c.C1005A						PASS	.	A		3215,1191		1192,831,180	79	91	87		1005	1.1	0.7	1	dbSNP_86	87	617,7981		35,547,3717	no	coding-synonymous	ATAD3B	NM_031921.4		1227,1378,3897	AA,AC,CC		7.1761,27.0313,29.4679		335/649	1421531	3832,9172	2203	4299	6502	SO:0001819	synonymous_variant	83858	exon10			AGCAACCAGGAAC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1005C>A	1.37:g.1421531C>A		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	206	90	0.436893	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	CCDS30.1																																																																																			C|0.587;A|0.413	0.413	strong		0.642	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1421531	C	A	1421531	2	1	22	1	0	0	0	0	0	0	0	1	1074	581	21	4		4	ATAD3B	1	1421531	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17637	1421531	247829090	16	5124										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1425700	1425700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgccatcaacagccgcatTgacgtgatggtccacttcga	10	12	1	2	rs819980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1425700T>C	ENST00000308647.7	+	14	1517	c.1401T>C	c.(1399-1401)atT>atC	p.I467I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	467						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAGCCGCATTGACGTGATGG	0.577													N|||	2433	0.485823	0.8487	0.3357	5008	,	,		16643	0.623		0.0994	False		,,,				2504	0.3579				p.I467I		Atlas-SNP	.											ATAD3B,NS,carcinoma,0,2	ATAD3B	68	2	0			c.T1401C						PASS	.	C		3224,1180		1194,836,172	80	72	75		1401	-2.2	0.1	1	dbSNP_86	75	714,7884		45,624,3630	no	coding-synonymous	ATAD3B	NM_031921.4		1239,1460,3802	CC,CT,TT		8.3043,26.7938,30.2876		467/649	1425700	3938,9064	2202	4299	6501	SO:0001819	synonymous_variant	83858	exon14			CCGCATTGACGTG	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1401T>C	1.37:g.1425700T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	170	75	0.441176	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	CCDS30.1																																																																																			T|0.629;C|0.371	0.371	strong		0.577	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		C	1425700	T	C	1425700	2	2	22	1	0	0	0	0	0	0	0	1	1074	1800	63	2		2	ATAD3B	1	1425700	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4169	1425700	247824921	17	5125										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1431105	1431105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttaggatatgctcctggAtggggactgggctgtgccca	14	9	0	0	rs199599542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1431105A>G	ENST00000308647.7	+	16	1971	c.1855A>G	c.(1855-1857)Atg>Gtg	p.M619V		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	619						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGCTCCTGGATGGGGACTGG	0.667																																					p.M619V		Atlas-SNP	.											.	ATAD3B	68	.	0			c.A1855G						PASS	.						40	41	40					1																	1431105		2201	4300	6501	SO:0001583	missense	83858	exon16			TCCTGGATGGGGA	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1855A>G	1.37:g.1431105A>G	ENSP00000311766:p.Met619Val	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	171	14	0.0818713	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.345532	0.00016	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.92965	-3.14	1.17	-2.33	0.06724	.	20.081800	0.03609	N	0.234515	T	0.81912	0.4923	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63795	-0.6556	10	0.59425	D	0.04	.	3.1198	0.06387	0.4569:0.0:0.3217:0.2214	.	573;619	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	V	453;619	ENSP00000311766:M619V	ENSP00000311766:M619V	M	+	1	0	ATAD3B	1420968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.647000	0.01997	-3.583000	0.00137	-2.537000	0.00180	ATG	A|0.994;G|0.006	0.006	strong		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		G	1431105	A	G	1431105	3	3	22	1	0	0	0	0	1	0	0	0	1074	333	12	2	1917	2	ATAD3B	1	1431105	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5405	1431105	247819516	18	5126										
ATAD3A	55210	hgsc.bcm.edu	37	chr1	1458915	1458915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggcggctcctcagtcgaCcccaggacgcgctggagggt	16	15	1	0	rs113107431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1458915C>T	ENST00000378755.5	+	9	1169	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	ATAD3A_ENST00000536055.1_Missense_Mutation_p.P232S|ATAD3A_ENST00000378756.3_Missense_Mutation_p.P311S	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	359					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CCTCAGTCGACCCCAGGACGC	0.706													c|||	108	0.0215655	0.0756	0.0115	5008	,	,		12132	0.0		0.0	False		,,,				2504	0.0				p.P359S		Atlas-SNP	.											.	ATAD3A	35	.	0			c.C1075T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO	341,4065	171.6+/-201.8	11,319,1873	48	47	47		931,694,1075	4.8	0.8	1	dbSNP_132	47	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	74,74,74	11,321,6171	TT,TC,CC		0.0233,7.7394,2.6372	benign,benign,benign	311/587,232/508,359/635	1458915	343,12663	2203	4300	6503	SO:0001583	missense	55210	exon9			AGTCGACCCCAGG	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1075C>T	1.37:g.1458915C>T	ENSP00000368030:p.Pro359Ser	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	181	102	0.563536	NM_018188	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	CCDS31.1	55|55	0.025183150183150184|0.025183150183150184	49|49	0.09959349593495935|0.09959349593495935	6|6	0.016574585635359115|0.016574585635359115	0|0	0.0|0.0	0|0	0.0|0.0	c|c	9.414|9.414	1.081264|1.081264	0.20309|0.20309	0.077394|0.077394	2.33E-4|2.33E-4	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94723|.	-3.25;-3.12;-3.5|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.325455|.	0.33895|.	N|.	0.004457|.	T|T	0.01835|0.01835	0.0058|0.0058	L|L	0.41906|0.41906	1.305|1.305	0.34198|0.34198	D|D	0.672866|0.672866	B;B|.	0.28439|.	0.047;0.212|.	B;B|.	0.22601|.	0.027;0.04|.	T|T	0.30416|0.30416	-0.9979|-0.9979	10|5	0.33940|.	T|.	0.23|.	.|.	8.613|8.613	0.33815|0.33815	0.1587:0.665:0.1764:0.0|0.1587:0.665:0.1764:0.0	.|.	311;359|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	S|I	311;359;232|296	ENSP00000368031:P311S;ENSP00000368030:P359S;ENSP00000439290:P232S|.	ENSP00000368030:P359S|.	P|T	+|+	1|2	0|0	ATAD3A|ATAD3A	1448778|1448778	1.000000|1.000000	0.71417|0.71417	0.842000|0.842000	0.33263|0.33263	0.047000|0.047000	0.14425|0.14425	3.205000|3.205000	0.51090|0.51090	2.220000|2.220000	0.72140|0.72140	0.556000|0.556000	0.70494|0.70494	CCC|ACC	C|0.972;T|0.028	0.028	strong		0.706	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		T	1458915	C	T	1458915	3	4	22	1	0	0	0	0	1	0	0	0	1073	507	18	2	1109	2	ATAD3A	1	1458915	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27810	1458915	247791706	19	5127										
ATAD3A	55210	hgsc.bcm.edu	37	chr1	1458944	1458944	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgctggagggtgttgtgctCagtgtaagtcggtgtgcctg	18	7	1	0	rs112145664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1458944C>T	ENST00000378755.5	+	9	1198	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	ATAD3A_ENST00000536055.1_Silent_p.L241L|ATAD3A_ENST00000378756.3_Silent_p.L320L	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	368					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GTGTTGTGCTCAGTGTAAGTC	0.711													N|||	109	0.0217652	0.0756	0.0115	5008	,	,		12972	0.001		0.0	False		,,,				2504	0.0				p.L368L		Atlas-SNP	.											.	ATAD3A	35	.	0			c.C1104T						PASS	.	G	,,	346,4060	177.3+/-206.3	11,324,1868	57	56	56		960,723,1104	2.9	0.9	1	dbSNP_132	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	,,	11,326,6166	TT,TC,CC		0.0233,7.8529,2.6757	,,	320/587,241/508,368/635	1458944	348,12658	2203	4300	6503	SO:0001819	synonymous_variant	55210	exon9			TGTGCTCAGTGTA	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1104C>T	1.37:g.1458944C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	186	106	0.569892	NM_018188	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	CCDS31.1	43	0.019688644688644688	37	0.07520325203252033	6	0.016574585635359115	0	0.0	0	0.0	c	0.686	-0.796159	0.02862	0.078529	2.33E-4	ENSG00000197785	ENST00000339113	.	.	.	4.8	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.355	0.66730	0.0:0.5744:0.4256:0.0	.	.	.	.	X	306	.	.	Q	+	1	0	ATAD3A	1448807	1.000000	0.71417	0.865000	0.33974	0.004000	0.04260	0.553000	0.23391	0.465000	0.27167	-1.655000	0.00754	CAG	C|0.974;T|0.026	0.026	strong		0.711	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		T	1458944	C	T	1458944	2	4	22	1	0	0	0	0	0	0	0	1	1073	813	29	2		2	ATAD3A	1	1458944	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29	1458944	247791677	20	5128										
MIB2	142678	hgsc.bcm.edu	37	chr1	1562536	1562536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctggtggtggaggtggcGctgggtaacgcagcccgggc	21	9	0	0	rs11544452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1562536G>A	ENST00000357210.4	+	11	1713	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	MIB2_ENST00000360522.4_Silent_p.A464A|MIB2_ENST00000378708.1_Silent_p.A405A|MIB2_ENST00000378712.1_Silent_p.A376A|MIB2_ENST00000505820.2_Silent_p.A556A|MIB2_ENST00000518681.1_Silent_p.A491A|MIB2_ENST00000355826.5_Silent_p.A542A|MIB2_ENST00000520777.1_Silent_p.A552A|MIB2_ENST00000504599.1_Silent_p.A455A|MIB2_ENST00000378710.3_Silent_p.A463A	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	499					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGAGGTGGCGCTGGGTAACG	0.687													.|||	707	0.141174	0.0061	0.2896	5008	,	,		13564	0.1746		0.1362	False		,,,				2504	0.1892				p.A556A		Atlas-SNP	.											.	MIB2	62	.	0			c.G1668A						PASS	.	G	,,,,	105,3907		3,99,1904	13	18	16		1656,1626,1473,1128,1668	-9.1	0.3	1	dbSNP_120	16	1011,7311		45,921,3195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MIB2	NM_001170686.1,NM_001170687.1,NM_001170688.1,NM_001170689.1,NM_080875.2	,,,,	48,1020,5099	AA,AG,GG		12.1485,2.6171,9.0482	,,,,	552/1067,542/1057,491/1006,376/754,556/1071	1562536	1116,11218	2006	4161	6167	SO:0001819	synonymous_variant	142678	exon11			GGTGGCGCTGGGT	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1497G>A	1.37:g.1562536G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	118	67	0.567797	NM_080875	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37		305	0.13965201465201466	4	0.008130081300813009	75	0.20718232044198895	114	0.1993006993006993	112	0.14775725593667546	G	3.666	-0.068494	0.07228	0.026171	0.121485	ENSG00000197530	ENST00000514234	T	0.53640	0.61	4.59	-9.07	0.00724	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	.	.	.	0.09310	P	0.9999999999995995	.	.	.	.	.	.	T	0.06110	-1.0845	6	0.87932	D	0	-18.8304	2.0692	0.03609	0.2581:0.3798:0.0945:0.2676	rs11544452	.	.	.	T	315	ENSP00000427680:A315T	ENSP00000427680:A315T	A	+	1	0	MIB2	1552399	0.000000	0.05858	0.254000	0.24359	0.884000	0.51177	-2.937000	0.00685	-1.519000	0.01775	0.455000	0.32223	GCT	G|0.860;A|0.140	0.140	strong		0.687	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		A	1562536	G	A	1562536	2	1	22	1	0	0	0	0	0	0	0	1	9567	1074	38	1		1	MIB2	1	1562536	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	103592	1562536	247688085	21	5129										
CDK11A	728642	hgsc.bcm.edu	37	chr1	1635565	1635565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggggatccgtactcccgCgccagcccaaaatcacccac	9	17	1	1	rs11488591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1635565C>T	ENST00000378633.1	-	16	1795	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	CDK11A_ENST00000495016.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Silent_p.A535A|CDK11A_ENST00000357760.2_Silent_p.A568A|CDK11A_ENST00000356200.3_Silent_p.A535A|CDK11A_ENST00000358779.5_Silent_p.A559A|CDK11A_ENST00000404249.3_Silent_p.A569A			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	572	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A568A(1)|p.A584A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CGTACTCCCGCGCCAGCCCAA	0.682													-|||	1232	0.246006	0.5	0.1167	5008	,	,		13745	0.2183		0.0646	False		,,,				2504	0.2096				p.A569A	Pancreas(186;965 2119 30274 40311 50569)	Atlas-SNP	.											CDK11B,NS,carcinoma,0,2	CDK11A	38	2	2	Substitution - coding silent(2)	stomach(2)	c.G1707A						PASS	.	C	,	1678,2272		402,874,699	36	43	41		1707,1677	-5.3	0	1	dbSNP_120	41	451,7805		33,385,3710	no	coding-synonymous,coding-synonymous	CDK11A	NM_024011.2,NM_033529.2	,	435,1259,4409	TT,TC,CC		5.4627,42.481,17.4422	,	569/781,559/771	1635565	2129,10077	1975	4128	6103	SO:0001819	synonymous_variant	728642	exon16			CTCCCGCGCCAGC	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1716G>A	1.37:g.1635565C>T		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	248	132	0.532258	NM_024011	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																				C|0.822;T|0.178	0.178	strong		0.682	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		T	1635565	C	T	1635565	2	4	22	1	0	0	0	0	0	0	0	1	3126	755	27	1		1	CDK11A	1	1635565	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73029	1635565	247615056	22	5130										
CDK11A	728642	hgsc.bcm.edu	37	chr1	1638925	1638925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggagtcgggcacatagtCgccctctgtcagggcgctgc	16	12	2	0	rs200982240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1638925C>T	ENST00000378633.1	-	11	1256	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	CDK11A_ENST00000404249.3_Missense_Mutation_p.D390N|CDK11A_ENST00000378635.3_3'UTR|CDK11A_ENST00000357760.2_Missense_Mutation_p.D389N|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000378638.2_Missense_Mutation_p.D356N|CDK11A_ENST00000356200.3_Missense_Mutation_p.D356N|CDK11A_ENST00000358779.5_Missense_Mutation_p.D380N|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	393					apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GGCACATAGTCGCCCTCTGTC	0.652													-|||	1141	0.227835	0.4455	0.1138	5008	,	,		16575	0.2083		0.0636	False		,,,				2504	0.2035				p.D390N	Pancreas(186;965 2119 30274 40311 50569)	Atlas-SNP	.											CDK11B,caecum,carcinoma,0,2	CDK11A	38	2	0			c.G1168A						PASS	.	C	ASN/ASP,ASN/ASP	1529,2493		338,853,820	43	56	52		1168,1138	2.9	0.7	1	dbSNP_134	52	443,7837		32,379,3729	no	missense,missense	CDK11A	NM_024011.2,NM_033529.2	23,23	370,1232,4549	TT,TC,CC		5.3502,38.0159,16.0299	,	390/781,380/771	1638925	1972,10330	2011	4140	6151	SO:0001583	missense	728642	exon11			CATAGTCGCCCTC	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1177G>A	1.37:g.1638925C>T	ENSP00000367900:p.Asp393Asn	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	268	114	0.425373	NM_024011	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37		.	.	.	.	.	.	.	.	.	.	-	7.765	0.706297	0.15239	0.380159	0.053502	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45	2.94	2.94	0.34122	.	0.322147	0.35870	N	0.002921	T	0.00012	0.0000	N	0.12182	0.205	0.09310	P	0.9999999999999996	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.49163	-0.8968	9	0.20046	T	0.44	.	13.0052	0.58701	0.0:1.0:0.0:0.0	.	390;380	Q9UQ88-2;Q9UQ88-4	.;.	N	356;390;389;380;393;356;356	ENSP00000348529:D356N;ENSP00000384442:D390N;ENSP00000350403:D389N;ENSP00000351629:D380N;ENSP00000367900:D393N;ENSP00000367905:D356N	ENSP00000348529:D356N	D	-	1	0	CDK11A	1628785	0.998000	0.40836	0.722000	0.30670	0.381000	0.30169	3.683000	0.54663	1.503000	0.48686	0.423000	0.28283	GAC	C|0.960;T|0.040	0.040	strong		0.652	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		T	1638925	C	T	1638925	3	4	22	1	0	0	0	0	1	0	0	0	3126	884	31	1	1214	1	CDK11A	1	1638925	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3360	1638925	247611696	23	5131										
NADK	65220	hgsc.bcm.edu	37	chr1	1684348	1684350	+	In_Frame_Del	DEL	CCT	CCT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggataggggcttgacctagcCctcctcctcctcctcctcct					rs139135464|rs558864951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1684348_1684350delCCT	ENST00000341426.5	-	12	1555_1557	c.1334_1336delAGG	c.(1333-1338)gagggc>ggc	p.E445del	NADK_ENST00000342348.5_In_Frame_Del_p.E413del|NADK_ENST00000344463.4_In_Frame_Del_p.E590del|NADK_ENST00000378625.1_In_Frame_Del_p.E590del|NADK_ENST00000341991.3_In_Frame_Del_p.E445del	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	445	Poly-Glu.			E -> EE (in Ref. 2; BAB14412). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TTGACCTAGCcctcctcctcctc	0.631																																					p.590_591del		Pindel	.											.	NADK	79	.	0			c.1770_1772del						PASS	.																																			SO:0001651	inframe_deletion	65220	exon14			.	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1334_1336delAGG	1.37:g.1684357_1684359delCCT	ENSP00000341679:p.Glu445del	Somatic	82	.	.		WXS	Illumina HiSeq	Phase_I	129	29	0.225	NM_001198994	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Del	DEL	ENST00000341426.5	37	CCDS30565.1																																																																																			.	.	strong		0.631	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		-	1684350	CCT	-	1684348	7	5	22	1	0	1	0	1	0	0	0	0	10137	623	22	0	8	0	NADK	1	1684348	In_Frame_Del	DEL	CCT	TCGA-G8-6324-01A-11D-2210-10	45423	1684348	247566273	24	5132										
NADK	65220	hgsc.bcm.edu	37	chr1	1688719	1688719	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggggacttgttccacgtCagccgctggctcgcggggtc	15	12	1	0	rs78921781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1688719C>A	ENST00000341426.5	-	4	515	c.294G>T	c.(292-294)ctG>ctT	p.L98L	NADK_ENST00000341991.3_Silent_p.L98L|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Silent_p.L202L|NADK_ENST00000342348.5_Silent_p.L66L|NADK_ENST00000344463.4_Silent_p.L202L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	98					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTTCCACGTCAGCCGCTGGC	0.552													C|||	27	0.00539137	0.0159	0.0014	5008	,	,		10189	0.001		0.004	False		,,,				2504	0.0				p.L202L		Atlas-SNP	.											.	NADK	79	.	0			c.G606T						PASS	.	C	,,,	69,4337	62.3+/-99.4	1,67,2135	97	98	98		294,606,198,294	5.7	1	1	dbSNP_133	98	7,8593	6.4+/-24.3	1,5,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NADK	NM_001198993.1,NM_001198994.1,NM_001198995.1,NM_023018.4	,,,	2,72,6429	AA,AC,CC		0.0814,1.566,0.5843	,,,	98/447,202/592,66/415,98/447	1688719	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	65220	exon6			CCACGTCAGCCGC	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.294G>T	1.37:g.1688719C>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	39	0.534247	NM_001198994	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	CCDS30565.1																																																																																			C|0.995;A|0.005	0.005	strong		0.552	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		A	1688719	C	A	1688719	2	1	22	1	0	0	0	0	0	0	0	1	10137	813	29	4		4	NADK	1	1688719	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4371	1688719	247561902	25	5133										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1887092	1887092	+	IGR	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgccctgaggccctcaccGcccgcccaccctggcttggc					rs3838976|rs139735565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1887092delG								TMEM52 (36380 upstream) : C1orf222 (32470 downstream)																							GGCCCTCACCGCCCGCCCACC	0.632													G|G|-|deletion	942	0.188099	0.1089	0.2334	5008	,	,		13367	0.2292		0.2485	False		,,,				2504	0.1585				p.G739fs		Atlas-Indel	.											.	KIAA1751	92	.	0			c.2215delG						PASS	.						45	46	46					1																	1887092		1963	4068	6031	SO:0001628	intergenic_variant	85452	exon18			.																													1.37:g.1887092delG		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	104	36	0.346154	NM_001080484		Frame_Shift_Del	DEL		37																																																																																				G|0.777;-|0.223	0.223	strong	0	0.632									-	1887092	G	-	1887092	6	5	22	0	1	1	0	1	0	0	0	0	8256	1074	38	0		0	KIAA1751	1	1887092	IGR	DEL	G	TCGA-G8-6324-01A-11D-2210-10	198373	1887092	247363529	26	5134										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1887112	1887112	+	IGR	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcccaccctggcttggCctggcagcctggctcacctg					rs3838975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1887112delC								TMEM52 (36400 upstream) : C1orf222 (32450 downstream)																							CCTGGCTTGGCCTGGCAGCCT	0.667													CC|CC|C|deletion	936	0.186901	0.1059	0.232	5008	,	,		12880	0.2292		0.2475	False		,,,				2504	0.1585				p.A732fs		Atlas-Indel	.											.	KIAA1751	92	.	0			c.2195delC						PASS	.			512,3372		50,412,1480	42	43	43			1.2	0.1	1	dbSNP_107	46	2092,5888		286,1520,2184	no	frameshift	KIAA1751	NM_001080484.1		336,1932,3664	A1A1,A1R,RR		26.2155,13.1823,21.9488			1887112	2604,9260	2027	4130	6157	SO:0001628	intergenic_variant	85452	exon18			.																													1.37:g.1887112delC		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	40	0.392157	NM_001080484		Frame_Shift_Del	DEL		37																																																																																				C|0.783;-|0.217	0.217	strong	0	0.667									-	1887112	C	-	1887112	6	5	22	0	1	1	0	1	0	0	0	0	8256	739	26	0		0	KIAA1751	1	1887112	IGR	DEL	C	TCGA-G8-6324-01A-11D-2210-10	20	1887112	247363509	27	5135										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1887245	1887245	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcagagaagctggtggcGgctttgtcatacaagctttt	12	8	2	1	rs28575980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1887245G>A								TMEM52 (36533 upstream) : C1orf222 (32317 downstream)																							AGCTGGTGGCGGCTTTGTCAT	0.562													G|||	908	0.18131	0.1044	0.219	5008	,	,		17542	0.2292		0.2316	False		,,,				2504	0.1575				p.A687A		Atlas-SNP	.											KIAA1751,NS,carcinoma,0,1	KIAA1751	92	1	0			c.C2061T						PASS	.	G		517,3601		38,441,1580	44	48	47		2061	-1.6	0	1	dbSNP_125	47	2075,6339		258,1559,2390	no	coding-synonymous	KIAA1751	NM_001080484.1		296,2000,3970	AA,AG,GG		24.6613,12.5546,20.6831		687/763	1887245	2592,9940	2059	4207	6266	SO:0001628	intergenic_variant	85452	exon18			GGTGGCGGCTTTG																													1.37:g.1887245G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	93	48	0.516129	NM_001080484		Silent	SNP		37		480	0.21978021978021978	59	0.11991869918699187	82	0.2265193370165746	159	0.27797202797202797	180	0.23746701846965698	G	3.005	-0.205185	0.06180	0.125546	0.246613	ENSG00000142609	ENST00000493316	.	.	.	2.8	-1.58	0.08479	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.35724	-0.9777	3	.	.	.	-1.4405	5.1203	0.14856	0.3205:0.1589:0.5206:0.0	rs28575980;rs61496843	.	.	.	L	93	.	.	P	-	2	0	C1orf222	1877105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.129000	0.15830	-0.723000	0.04915	-1.119000	0.02030	CCG	G|0.777;A|0.223	0.223	strong	0	0.562									A	1887245	G	A	1887245	1	1	22	0	1	0	0	0	0	0	0	0	8256	1103	39	1		1	KIAA1751	1	1887245	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133	1887245	247363376	28	5136										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1888193	1888193	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcctaccacgtagctgcCgaagtcaatgagctccttgt	8	14	2	1	rs3820011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1888193C>A								TMEM52 (37481 upstream) : C1orf222 (31369 downstream)																							ACGTAGCTGCCGAAGTCAATG	0.622													C|||	936	0.186901	0.1067	0.232	5008	,	,		19634	0.2282		0.2455	False		,,,				2504	0.1605				p.G628C		Atlas-SNP	.											.	KIAA1751	92	.	0			c.G1882T						PASS	.	C	CYS/GLY	566,3756		44,478,1639	55	60	58		1882	4.8	1	1	dbSNP_107	58	2242,6272		294,1654,2309	yes	missense	KIAA1751	NM_001080484.1	159	338,2132,3948	AA,AC,CC		26.3331,13.0958,21.876	probably-damaging	628/763	1888193	2808,10028	2161	4257	6418	SO:0001628	intergenic_variant	85452	exon17			AGCTGCCGAAGTC																													1.37:g.1888193C>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	149	76	0.510067	NM_001080484		Missense_Mutation	SNP		37		514	0.23534798534798534	66	0.13414634146341464	89	0.24585635359116023	162	0.28321678321678323	197	0.2598944591029024	C	19.64	3.865871	0.71949	0.130958	0.263331	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.00039	0.0001	M	0.79258	2.445	0.09310	P	1.0	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00348	-1.1799	8	0.87932	D	0	-32.4849	15.6211	0.76808	0.0:1.0:0.0:0.0	rs3820011;rs17372244;rs57075302;rs3820011	628;628	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	C	628;75	.	ENSP00000270720:G628C	G	-	1	0	C1orf222	1878053	1.000000	0.71417	0.993000	0.49108	0.683000	0.39861	5.452000	0.66638	2.352000	0.79861	0.655000	0.94253	GGC	C|0.775;A|0.225	0.225	strong	0	0.622									A	1888193	C	A	1888193	1	1	22	0	1	0	0	0	0	0	0	0	8256	652	23	4		4	KIAA1751	1	1888193	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	948	1888193	247362428	29	5137										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1900106	1900107	+	IGR	INS	-	-	CTC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggttgggactgtggtcttINScttgcaaaagtcagaaatgt					rs61233860|rs145742571|rs72634902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1900106_1900107insCTC								TMEM52 (49394 upstream) : C1orf222 (19455 downstream)																							ACTGTGGTCTTCTTGCAAAAGT	0.569														997	0.199081	0.1324	0.1945	5008	,	,		21168	0.3284		0.2376	False		,,,				2504	0.1196				p.K405delinsEK		Pindel,Atlas-Indel	.											.	KIAA1751	92	.	0			c.1213_1214insGAG						PASS	.			643,3311		79,485,1413						-3.9	0		dbSNP_129	188	1999,6033		265,1469,2282	no	coding	KIAA1751	NM_001080484.1		344,1954,3695	A1A1,A1R,RR		24.8879,16.262,22.0424				2642,9344				SO:0001628	intergenic_variant	85452	exon11			.																													1.37:g.1900106_1900107insCTC		Somatic	176	.	.		WXS	Illumina HiSeq	Phase_I	164	42	0.256	NM_001080484		In_Frame_Ins	INS		37																																																																																				.	.	strong	0	0.569									CTC	1900107	-	CTC	1900106	6	5	22	0	1	1	1	0	0	0	0	0	8256	1792	62	0		0	KIAA1751	1	1900106	IGR	INS	-	TCGA-G8-6324-01A-11D-2210-10	11913	1900106	247350515	30	5138										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1916890	1916890	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgttctccagctctgcaaaCaggcgtctggacacggcctg	11	14	3	0	rs3795280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:1916890C>T	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCTGCAAACAGGCGTCTGG	0.662													c|||	2196	0.438498	0.6573	0.2795	5008	,	,		18797	0.4335		0.3082	False		,,,				2504	0.3947				p.L145L		Atlas-SNP	.											.	KIAA1751	92	.	0			c.G435A						PASS	.	T		2382,1730		693,996,367	67	73	71		435	2.8	0.6	1	dbSNP_107	71	2744,5634		450,1844,1895	no	coding-synonymous	KIAA1751	NM_001080484.1		1143,2840,2262	TT,TC,CC		32.7524,42.072,41.0408		145/763	1916890	5126,7364	2056	4189	6245	SO:0001628	intergenic_variant	85452	exon6			TGCAAACAGGCGT																													1.37:g.1916890C>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	157	86	0.547771	NM_001080484		Silent	SNP	ENST00000434971.2	37																																																																																				C|0.606;T|0.394	0.394	strong		0.662	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				T	1916890	C	T	1916890	1	4	22	0	1	0	0	0	0	0	0	0	8256	465	17	2		2	KIAA1751	1	1916890	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16784	1916890	247333731	31	5139										
PANK4	55229	hgsc.bcm.edu	37	chr1	2441358	2441358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcagcagcctctcttccTggagcgcagagctgccagat	11	15	1	2	rs2494620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2441358T>C	ENST00000378466.3	-	18	2063	c.2051A>G	c.(2050-2052)cAg>cGg	p.Q684R	PANK4_ENST00000435556.3_Missense_Mutation_p.Q645R	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	684			Q -> R (in dbSNP:rs2494620). {ECO:0000269|Ref.2}.		coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.Q684R(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCTCTTCCTGGAGCGCAGA	0.657													C|||	2313	0.461861	0.7148	0.3444	5008	,	,		17094	0.4702		0.2127	False		,,,				2504	0.4509				p.Q684R		Atlas-SNP	.											PANK4,NS,lymphoid_neoplasm,0,2	PANK4	64	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A2051G						PASS	.	C	ARG/GLN	2888,1508	461.7+/-353.0	962,964,272	46	55	52		2051	-0.2	0	1	dbSNP_100	52	1916,6676	711.8+/-405.9	210,1496,2590	yes	missense	PANK4	NM_018216.1	43	1172,2460,2862	CC,CT,TT		22.2998,34.3039,36.988	benign	684/774	2441358	4804,8184	2198	4296	6494	SO:0001583	missense	55229	exon18			TCTTCCTGGAGCG	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2051A>G	1.37:g.2441358T>C	ENSP00000367727:p.Gln684Arg	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	199	102	0.512563	NM_018216	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	CCDS42.1	852	0.3901098901098901	341	0.693089430894309	114	0.3149171270718232	242	0.4230769230769231	155	0.20448548812664907	C	4.722	0.134313	0.09032	0.656961	0.222998	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06371	3.31;3.31	5.03	-0.23	0.13090	Domain of unknown function DUF89 (2);	0.544208	0.20048	N	0.100373	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10613	-1.0622	9	0.10902	T	0.67	-0.009	10.247	0.43347	0.0:0.5005:0.0:0.4995	rs2494620;rs11541160;rs58437041;rs2494620	645;684	E9PHT6;Q9NVE7	.;PANK4_HUMAN	R	684;645	ENSP00000367727:Q684R;ENSP00000421433:Q645R	ENSP00000367727:Q684R	Q	-	2	0	PANK4	2431218	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.488000	0.02308	-0.299000	0.08909	-0.994000	0.02522	CAG	T|0.615;C|0.385	0.385	strong		0.657	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			C	2441358	T	C	2441358	3	2	22	1	0	0	0	0	1	0	0	0	11419	1580	55	3	278	3	PANK4	1	2441358	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	524468	2441358	246809263	32	5140										
MMEL1	79258	hgsc.bcm.edu	37	chr1	2526746	2526746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcgtccaggcgcctgttcAtctcctccaggatgtagtca	9	15	3	0	rs3748816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2526746A>G	ENST00000378412.3	-	16	1714	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	MMEL1_ENST00000502556.1_Missense_Mutation_p.M361T|MMEL1_ENST00000288709.6_Missense_Mutation_p.M509T			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	518			M -> T (in dbSNP:rs3748816). {ECO:0000269|PubMed:15489334}.			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)		GCGCCTGTTCATCTCCTCCAG	0.647													G|||	2711	0.541334	0.7284	0.487	5008	,	,		15245	0.5407		0.332	False		,,,				2504	0.5429				p.M518T		Atlas-SNP	.											.	MMEL1	64	.	0			c.T1553C						PASS	.	G	THR/MET	3002,1404	459.8+/-352.4	1022,958,223	70	66	67	http://www.ncbi.nlm.nih.gov/pubmed?term	1553	-5.5	0	1	dbSNP_107	67	2892,5708	671.0+/-402.8	487,1918,1895	yes	missense	MMEL1	NM_033467.3	81	1509,2876,2118	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	33.6279,31.8656,45.3175	benign	518/780	2526746	5894,7112	2203	4300	6503	SO:0001583	missense	79258	exon16			CTGTTCATCTCCT	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.1553T>C	1.37:g.2526746A>G	ENSP00000367668:p.Met518Thr	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	260	108	0.415385	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	1043	0.4775641025641026	347	0.7052845528455285	165	0.4558011049723757	278	0.486013986013986	253	0.3337730870712401	G	0	-2.755514	0.00085	0.681344	0.336279	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.81579	-1.51;-1.51;-1.51	4.89	-5.48	0.02592	.	1.727810	0.02496	N	0.089927	T	0.00012	0.0000	N	0.00446	-1.495	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	9	0.08381	T	0.77	-0.0773	2.1612	0.03825	0.1136:0.2449:0.3589:0.2826	rs3748816;rs61663127;rs3748816	518	Q495T6	MMEL1_HUMAN	T	361;509;518;361	ENSP00000288709:M509T;ENSP00000367668:M518T;ENSP00000422492:M361T	ENSP00000288709:M509T	M	-	2	0	MMEL1	2516606	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.199000	0.00561	-1.671000	0.01466	-2.367000	0.00236	ATG	A|0.529;G|0.471	0.471	strong		0.647	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		G	2526746	A	G	2526746	3	3	22	1	0	0	0	0	1	0	0	0	9646	217	8	2	822	2	MMEL1	1	2526746	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85388	2526746	246723875	33	5141										
MMEL1	79258	hgsc.bcm.edu	37	chr1	2535613	2535613	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgtgtctccagctccagCacctgcaccatgtcctcctg	8	17	1	0	rs4648562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2535613C>A	ENST00000378412.3	-	10	1085	c.924G>T	c.(922-924)gtG>gtT	p.V308V	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Silent_p.V299V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	308						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)		CCAGCTCCAGCACCTGCACCA	0.677													C|||	2484	0.496006	0.6112	0.4481	5008	,	,		12736	0.5288		0.3121	False		,,,				2504	0.5297				p.V308V		Atlas-SNP	.											.	MMEL1	64	.	0			c.G924T						PASS	.	C		2518,1888		728,1062,413	36	36	36		924	3.5	1	1	dbSNP_111	36	2731,5867		435,1861,2003	no	coding-synonymous	MMEL1	NM_033467.3		1163,2923,2416	AA,AC,CC		31.7632,42.8507,40.3645		308/780	2535613	5249,7755	2203	4299	6502	SO:0001819	synonymous_variant	79258	exon10			CTCCAGCACCTGC	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.924G>T	1.37:g.2535613C>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	193	78	0.404145	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2	947	0.4336080586080586	289	0.5873983739837398	150	0.4143646408839779	271	0.4737762237762238	237	0.31266490765171506	C	0.350	-0.945647	0.02304	0.571493	0.317632	ENSG00000142606	ENST00000378411	.	.	.	4.43	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4639	0.04548	0.1496:0.533:0.1454:0.1719	rs4648562	.	.	.	.	-1	.	.	.	-	.	.	MMEL1	2525473	0.994000	0.37717	0.999000	0.59377	0.089000	0.18198	0.369000	0.20416	0.930000	0.37217	-0.687000	0.03738	.	C|0.594;A|0.406	0.406	strong		0.677	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2535613	C	A	2535613	2	1	22	1	0	0	0	0	0	0	0	1	9646	697	25	4		4	MMEL1	1	2535613	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8867	2535613	246715008	34	5142										
ACTRT2	140625	hgsc.bcm.edu	37	chr1	2938265	2938265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggcatgtttaatccgcaCgctttagactccccggctgt	11	13	0	1	rs4576609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2938265C>T	ENST00000378404.2	+	1	220	c.15C>T	c.(13-15)caC>caT	p.H5H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	5						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTAATCCGCACGCTTTAGACT	0.567													C|||	1010	0.201677	0.1324	0.2406	5008	,	,		17517	0.3978		0.161	False		,,,				2504	0.1074				p.H5H		Atlas-SNP	.											.	ACTRT2	69	.	0			c.C15T						PASS	.	C		624,3782	251.8+/-258.4	49,526,1628	56	62	60		15	-4	0	1	dbSNP_111	60	1537,7063	286.6+/-297.8	124,1289,2887	no	coding-synonymous	ACTRT2	NM_080431.4		173,1815,4515	TT,TC,CC		17.8721,14.1625,16.6154		5/378	2938265	2161,10845	2203	4300	6503	SO:0001819	synonymous_variant	140625	exon1			TCCGCACGCTTTA	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.15C>T	1.37:g.2938265C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_080431	B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	CCDS45.1																																																																																			C|0.804;T|0.196	0.196	strong		0.567	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		T	2938265	C	T	2938265	2	4	22	1	0	0	0	0	0	0	0	1	219	535	19	1		1	ACTRT2	1	2938265	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	402652	2938265	246312356	35	5143										
ACTRT2	140625	hgsc.bcm.edu	37	chr1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctcagcagaggccaaccAgaagaagtactttgtggggg					rs4013154|rs201580305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611														563	0.11242	0.0106	0.2176	5008	,	,		17049	0.1925		0.1581	False		,,,				2504	0.046				p.53_53del		Pindel	.											ACTRT2,NS,carcinoma,-1,1	ACTRT2	69	1	0			c.157_159del						PASS	.			152,4114		9,134,1990						4.1	0.8		dbSNP_108	43	1412,6842		109,1194,2824	no	coding	ACTRT2	NM_080431.4		118,1328,4814	A1A1,A1R,RR		17.1069,3.5631,12.492				1564,10956				SO:0001651	inframe_deletion	140625	exon1			.	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.158_160delAGA	1.37:g.2938411_2938413delAGA	ENSP00000367658:p.Lys55del	Somatic	103	.	.		WXS	Illumina HiSeq	Phase_I	122	33	0.27	NM_080431	B1AN52|Q8NHS6|Q8TDG1	In_Frame_Del	DEL	ENST00000378404.2	37	CCDS45.1																																																																																			AGA|0.848;-|0.152	0.152	strong		0.611	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		-	2938410	AGA	-	2938408	7	5	22	1	0	1	0	1	0	0	0	0	219	188	7	0	160	0	ACTRT2	1	2938408	In_Frame_Del	DEL	AGA	TCGA-G8-6324-01A-11D-2210-10	143	2938408	246312213	36	5144										
ACTRT2	140625	hgsc.bcm.edu	37	chr1	2938697	2938697	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctggctctctacgcctcTgcctgtgtcacgggcctggt	13	14	3	0	rs3795262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:2938697T>G	ENST00000378404.2	+	1	652	c.447T>G	c.(445-447)tcT>tcG	p.S149S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	149						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCTACGCCTCTGCCTGTGTCA	0.622													G|||	1047	0.209065	0.1657	0.2435	5008	,	,		18354	0.3958		0.163	False		,,,				2504	0.0982				p.S149S		Atlas-SNP	.											.	ACTRT2	69	.	0			c.T447G						PASS	.	G		736,3670	756.4+/-412.6	65,606,1532	63	58	59		447	-9.7	0.4	1	dbSNP_107	59	1542,7058	744.7+/-407.2	125,1292,2883	no	coding-synonymous	ACTRT2	NM_080431.4		190,1898,4415	GG,GT,TT		17.9302,16.7045,17.515		149/378	2938697	2278,10728	2203	4300	6503	SO:0001819	synonymous_variant	140625	exon1			CGCCTCTGCCTGT	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.447T>G	1.37:g.2938697T>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	161	83	0.515528	NM_080431	B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	CCDS45.1																																																																																			T|0.796;G|0.204	0.204	strong		0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		G	2938697	T	G	2938697	2	3	22	1	0	0	0	0	0	0	0	1	219	1567	55	5		5	ACTRT2	1	2938697	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	289	2938697	246311924	37	5145										
PRDM16	63976	hgsc.bcm.edu	37	chr1	3322139	3322139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccacgcctgccccgactgCgggaagaccttcgccacgtc	11	19	0	1	rs61745281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3322139C>T	ENST00000270722.5	+	8	1162	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	PRDM16_ENST00000441472.2_Silent_p.C371C|PRDM16_ENST00000378398.3_Silent_p.C372C|PRDM16_ENST00000514189.1_Silent_p.C372C|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.C371C|PRDM16_ENST00000378391.2_Silent_p.C371C|PRDM16_ENST00000511072.1_Silent_p.C372C			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	371					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCCCGACTGCGGGAAGACCT	0.657			T	EVI1	"MDS, AML"								c|||	139	0.0277556	0.0998	0.0101	5008	,	,		14941	0.0		0.0	False		,,,				2504	0.0				p.C371C		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.C1113T						PASS	.	C	,	363,4035		14,335,1850	41	48	46		1113,1113	-4	1	1	dbSNP_129	46	6,8576		0,6,4285	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	14,341,6135	TT,TC,CC		0.0699,8.2538,2.8428	,	371/1277,371/1258	3322139	369,12611	2199	4291	6490	SO:0001819	synonymous_variant	63976	exon8			CGACTGCGGGAAG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1113C>T	1.37:g.3322139C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			C|0.984;T|0.016	0.016	strong		0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3322139	C	T	3322139	2	4	22	1	0	0	0	0	0	0	0	1	12457	776	27	1		1	PRDM16	1	3322139	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	383442	3322139	245928482	38	5146										
ARHGEF16	27237	hgsc.bcm.edu	37	chr1	3397062	3397062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagacgggatggttccccGaggactttgcccgcttcatc	13	12	1	1	rs56309807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3397062G>A	ENST00000378378.4	+	15	2446	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E393K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E393K|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E385K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	681	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		E -> K (in dbSNP:rs56309807).		activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATGGTTCCCCGAGGACTTTGC	0.677													G|||	96	0.0191693	0.0318	0.0245	5008	,	,		17786	0.0		0.0368	False		,,,				2504	0.0				p.E681K		Atlas-SNP	.											.	ARHGEF16	76	.	0			c.G2041A						PASS	.	G	LYS/GLU	132,4272	92.5+/-131.2	3,126,2073	56	50	52		2041	4.1	1	1	dbSNP_129	52	197,8399	84.8+/-147.2	2,193,4103	yes	missense	ARHGEF16	NM_014448.3	56	5,319,6176	AA,AG,GG		2.2918,2.9973,2.5308	benign	681/710	3397062	329,12671	2202	4298	6500	SO:0001583	missense	27237	exon15			TTCCCCGAGGACT	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.2041G>A	1.37:g.3397062G>A	ENSP00000367629:p.Glu681Lys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	38	22	0.578947	NM_014448	Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	CCDS46.2	61	0.027930402930402932	22	0.044715447154471545	12	0.03314917127071823	0	0.0	27	0.03562005277044855	G	6.140	0.394127	0.11638	0.029973	0.022918	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.06	4.14	0.48551	Src homology-3 domain (3);	0.128564	0.52532	D	0.000067	T	0.09905	0.0243	L	0.31526	0.94	0.41321	D	0.987175	B;B	0.27765	0.188;0.188	B;B	0.29862	0.108;0.067	T	0.03034	-1.1080	10	0.07325	T	0.83	-26.4072	14.8718	0.70462	0.0:0.3416:0.6584:0.0	rs56309807;rs61759243	385;681	B4DJM7;Q5VV41	.;ARHGG_HUMAN	K	681;393;393;385	ENSP00000367629:E681K;ENSP00000367624:E393K;ENSP00000367622:E393K;ENSP00000408887:E385K	ENSP00000367622:E393K	E	+	1	0	ARHGEF16	3386922	0.998000	0.40836	0.989000	0.46669	0.256000	0.26092	2.935000	0.48963	1.129000	0.42072	-0.467000	0.05162	GAG	G|0.974;A|0.026	0.026	strong		0.677	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3397062	G	A	3397062	3	1	22	1	0	0	0	0	1	0	0	0	899	1059	37	1	2095	1	ARHGEF16	1	3397062	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74923	3397062	245853559	39	5147										
MEGF6	1953	hgsc.bcm.edu	37	chr1	3413868	3413868	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacgtggtggcaggcagcgCcaggcgggcagctgcagcgc	19	12	0	1	rs4648506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3413868C>G	ENST00000356575.4	-	27	3636	c.3410G>C	c.(3409-3411)gGc>gCc	p.G1137A	MEGF6_ENST00000294599.4_Missense_Mutation_p.G946A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1137	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> A (in dbSNP:rs4648506). {ECO:0000269|PubMed:9693030}.			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)		GCAGGCAGCGCCAGGCGGGCA	0.716													C|||	1222	0.24401	0.146	0.3357	5008	,	,		12528	0.1865		0.3201	False		,,,				2504	0.2924				p.G1137A	Ovarian(73;978 3658)	Atlas-SNP	.											.	MEGF6	91	.	0			c.G3410C						PASS	.	C	ALA/GLY	547,3569		48,451,1559	8	13	11		3410	0.1	0	1	dbSNP_111	11	2204,6092		339,1526,2283	no	missense	MEGF6	NM_001409.3	60	387,1977,3842	GG,GC,CC		26.567,13.2896,22.164	possibly-damaging	1137/1542	3413868	2751,9661	2058	4148	6206	SO:0001583	missense	1953	exon27			GCAGCGCCAGGCG	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.3410G>C	1.37:g.3413868C>G	ENSP00000348982:p.Gly1137Ala	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	532	0.24358974358974358	83	0.16869918699186992	101	0.27900552486187846	130	0.22727272727272727	218	0.287598944591029	C	12.32	1.903437	0.33628	0.132896	0.26567	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.71934	-0.09;-0.61	4.36	0.0897	0.14460	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.182174	0.48286	N	0.000200	T	0.00012	0.0000	M	0.91663	3.23	0.40306	P	0.021338999999999997	P;P	0.51147	0.942;0.929	P;P	0.62435	0.902;0.841	T	0.05022	-1.0911	9	0.62326	D	0.03	-7.763	6.2955	0.21083	0.0:0.6314:0.1331:0.2355	rs4648506	1137;946	O75095;O75095-2	MEGF6_HUMAN;.	A	946;1137	ENSP00000294599:G946A;ENSP00000348982:G1137A	ENSP00000294599:G946A	G	-	2	0	MEGF6	3403728	0.002000	0.14202	0.000000	0.03702	0.135000	0.20990	0.253000	0.18296	-0.064000	0.13043	0.561000	0.74099	GGC	C|0.736;G|0.264	0.264	strong		0.716	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3413868	C	G	3413868	3	3	22	1	0	0	0	0	1	0	0	0	9462	739	26	4	1259	4	MEGF6	1	3413868	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16806	3413868	245836753	40	5148										
MEGF6	1953	hgsc.bcm.edu	37	chr1	3421897	3421897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccggcccaaagtagcccAgctcacactctgcagggcgt	10	17	2	0	rs2821008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3421897A>G	ENST00000356575.4	-	17	2289	c.2063T>C	c.(2062-2064)cTg>cCg	p.L688P	MEGF6_ENST00000294599.4_Missense_Mutation_p.L583P	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	688			L -> P (in dbSNP:rs2821008).			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)		AAAGTAGCCCAGCTCACACTC	0.697													G|||	1298	0.259185	0.4251	0.2277	5008	,	,		14841	0.2331		0.1799	False		,,,				2504	0.1656				p.L688P	Ovarian(73;978 3658)	Atlas-SNP	.											.	MEGF6	91	.	0			c.T2063C						PASS	.	G	PRO/LEU	1392,2658		266,860,899	14	19	17		2063	2.5	0	1	dbSNP_100	17	1381,6983		125,1131,2926	yes	missense	MEGF6	NM_001409.3	98	391,1991,3825	GG,GA,AA		16.5112,34.3704,22.3377	benign	688/1542	3421897	2773,9641	2025	4182	6207	SO:0001583	missense	1953	exon17			TAGCCCAGCTCAC	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.2063T>C	1.37:g.3421897A>G	ENSP00000348982:p.Leu688Pro	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	151	70	0.463576	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	502	0.22985347985347984	177	0.3597560975609756	83	0.2292817679558011	113	0.19755244755244755	129	0.17018469656992086	G	0.004	-2.349863	0.00219	0.343704	0.165112	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.13657	2.57;2.57	4.43	2.53	0.30540	EGF-like, laminin (1);	0.623994	0.15945	N	0.237012	T	0.00012	0.0000	N	0.00358	-1.6	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45264	-0.9273	9	0.25106	T	0.35	-1.8612	8.0441	0.30538	0.3309:0.0:0.6691:0.0	rs2821008;rs2821008	688;583	O75095;O75095-2	MEGF6_HUMAN;.	P	583;688	ENSP00000294599:L583P;ENSP00000348982:L688P	ENSP00000294599:L583P	L	-	2	0	MEGF6	3411757	0.003000	0.15002	0.027000	0.17364	0.337000	0.28794	1.318000	0.33643	0.094000	0.17404	-0.355000	0.07637	CTG	A|0.775;G|0.225	0.225	strong		0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3421897	A	G	3421897	3	3	22	1	0	0	0	0	1	0	0	0	9462	188	7	3	2646	3	MEGF6	1	3421897	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8029	3421897	245828724	41	5149										
MEGF6	1953	hgsc.bcm.edu	37	chr1	3428160	3428160	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcgtagccgcggggacaTgtgcacaggggcccagcact	15	13	0	0	rs2820999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3428160T>G	ENST00000356575.4	-	9	1294	c.1068A>C	c.(1066-1068)acA>acC	p.T356T	MEGF6_ENST00000294599.4_Silent_p.T251T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	356	EGF-like 6. {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)		CGCGGGGACATGTGCACAGGG	0.642													G|||	2504	0.5	0.7511	0.4049	5008	,	,		17510	0.6409		0.2863	False		,,,				2504	0.3027				p.T356T	Ovarian(73;978 3658)	Atlas-SNP	.											.	MEGF6	91	.	0			c.A1068C						PASS	.	G		2799,1351		950,899,226	46	62	57		1068	3.9	1	1	dbSNP_100	57	2487,5913		395,1697,2108	no	coding-synonymous	MEGF6	NM_001409.3		1345,2596,2334	GG,GT,TT		29.6071,32.5542,42.1195		356/1542	3428160	5286,7264	2075	4200	6275	SO:0001819	synonymous_variant	1953	exon9			GGGACATGTGCAC	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.1068A>C	1.37:g.3428160T>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	85	39	0.458824	NM_001409	Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	CCDS41237.1																																																																																			T|0.574;G|0.426	0.426	strong		0.642	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3428160	T	G	3428160	2	3	22	1	0	0	0	0	0	0	0	1	9462	1451	51	5		5	MEGF6	1	3428160	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6263	3428160	245822461	42	5150										
WDR8	49856	hgsc.bcm.edu	37	chr1	3548136	3548136	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcgggtcccactgaaaTgcgcgcactggggacagctg	15	12	0	1	rs2760321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3548136T>C	ENST00000270708.7	-	11	1207	c.1134A>G	c.(1132-1134)gcA>gcG	p.A378A	WRAP73_ENST00000378322.3_Silent_p.A378A	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	378						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CCCACTGAAATGCGCGCACTG	0.642													C|||	4538	0.90615	0.8926	0.8458	5008	,	,		15672	0.995		0.836	False		,,,				2504	0.9479				p.A378A		Atlas-SNP	.											.	WRAP73	43	.	0			c.A1134G						PASS	.	C		3857,545	238.4+/-249.8	1693,471,37	38	37	38		1134	-10.9	0	1	dbSNP_100	38	7201,1399	265.0+/-285.9	3016,1169,115	no	coding-synonymous	WRAP73	NM_017818.3		4709,1640,152	CC,CT,TT		16.2674,12.3807,14.9515		378/461	3548136	11058,1944	2201	4300	6501	SO:0001819	synonymous_variant	49856	exon11			CTGAAATGCGCGC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1134A>G	1.37:g.3548136T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_017818	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																			T|0.138;C|0.862	0.862	strong		0.642	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			C	3548136	T	C	3548136	2	2	22	1	0	0	0	0	0	0	0	1	17326	1451	51	2		2	WDR8	1	3548136	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	119976	3548136	245702485	43	5151										
CCDC27	148870	hgsc.bcm.edu	37	chr1	3688030	3688030	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggcgtcaaagtgcccccCctgcaacagtcagaggcctt	10	14	2	1	rs3737592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3688030C>G	ENST00000294600.2	+	12	1998	c.1914C>G	c.(1912-1914)ccC>ccG	p.P638P	SMIM1_ENST00000444870.2_5'Flank|SMIM1_ENST00000561886.1_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	638										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AAGTGCCCCCCCTGCAACAGT	0.562													C|||	557	0.111222	0.2874	0.072	5008	,	,		16386	0.0198		0.0805	False		,,,				2504	0.0266				p.P638P		Atlas-SNP	.											CCDC27,caecum,carcinoma,+2,1	CCDC27	79	1	0			c.C1914G						PASS	.	C		1078,3328	391.9+/-328.3	124,830,1249	87	98	94		1914	-8	0	1	dbSNP_107	94	713,7887	175.5+/-225.5	35,643,3622	no	coding-synonymous	CCDC27	NM_152492.2		159,1473,4871	GG,GC,CC		8.2907,24.4666,13.7706		638/657	3688030	1791,11215	2203	4300	6503	SO:0001819	synonymous_variant	148870	exon12			GCCCCCCCTGCAA		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1914C>G	1.37:g.3688030C>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	47	22	0.468085	NM_152492	Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	CCDS50.1																																																																																			C|0.876;G|0.124	0.124	strong		0.562	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		G	3688030	C	G	3688030	2	3	22	1	0	0	0	0	0	0	0	1	2801	610	22	4		4	CCDC27	1	3688030	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	139894	3688030	245562591	44	5152										
LRRC47	57470	hgsc.bcm.edu	37	chr1	3701663	3701663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcaccttgaggtcctgTgggggccgggcgcagtacag	17	11	0	1	rs2298227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3701663T>C	ENST00000378251.1	-	3	1209	c.1182A>G	c.(1180-1182)ccA>ccG	p.P394P	RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	394							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TGAGGTCCTGTGGGGGCCGGG	0.602													C|||	543	0.108427	0.1452	0.1023	5008	,	,		18489	0.1111		0.1213	False		,,,				2504	0.047				p.P394P		Atlas-SNP	.											.	LRRC47	42	.	0			c.A1182G						PASS	.	C		570,3836	768.5+/-413.6	29,512,1662	53	52	52		1182	-9.5	0.1	1	dbSNP_100	52	926,7674	774.1+/-407.7	48,830,3422	no	coding-synonymous	LRRC47	NM_020710.2		77,1342,5084	CC,CT,TT		10.7674,12.9369,11.5024		394/584	3701663	1496,11510	2203	4300	6503	SO:0001819	synonymous_variant	57470	exon3			GTCCTGTGGGGGC	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1182A>G	1.37:g.3701663T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_020710	Q9ULN5	Silent	SNP	ENST00000378251.1	37	CCDS51.1																																																																																			T|0.882;C|0.118	0.118	strong		0.602	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		C	3701663	T	C	3701663	2	2	22	1	0	0	0	0	0	0	0	1	9004	1683	59	2		2	LRRC47	1	3701663	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13633	3701663	245548958	45	5153										
KIAA0562	9731	hgsc.bcm.edu	37	chr1	3745924	3745924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctgcttcttctgtagccGcttttctccgtgcctggtaa	8	12	4	0	rs2275831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3745924G>A	ENST00000378230.3	-	15	2381	c.2057C>T	c.(2056-2058)gCg>gTg	p.A686V	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	686			A -> V (in dbSNP:rs2275831).			centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCTGTAGCCGCTTTTCTCCG	0.378													G|||	1054	0.210463	0.0802	0.1311	5008	,	,		17124	0.5208		0.0557	False		,,,				2504	0.2822				p.A686V		Atlas-SNP	.											.	CEP104	79	.	0			c.C2057T						PASS	.	G	VAL/ALA	389,4017	191.9+/-217.4	24,341,1838	51	54	53		2057	4.4	0.8	1	dbSNP_100	53	397,8203	126.2+/-184.7	9,379,3912	yes	missense	CEP104	NM_014704.3	64	33,720,5750	AA,AG,GG		4.6163,8.8289,6.0434	benign	686/926	3745924	786,12220	2203	4300	6503	SO:0001583	missense	9731	exon15			GTAGCCGCTTTTC	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2057C>T	1.37:g.3745924G>A	ENSP00000367476:p.Ala686Val	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	36	14	0.388889	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	431	0.19734432234432234	43	0.08739837398373984	55	0.15193370165745856	289	0.5052447552447552	44	0.05804749340369393	G	7.460	0.644553	0.14451	0.088289	0.046163	ENSG00000116198	ENST00000378230	T	0.39997	1.05	5.32	4.39	0.52855	.	0.370796	0.27595	N	0.018662	T	0.00012	0.0000	L	0.38531	1.155	0.09310	P	0.9999999999980493	B	0.21821	0.061	B	0.17722	0.019	T	0.46884	-0.9159	9	0.28530	T	0.3	.	7.1488	0.25597	0.0889:0.0:0.7414:0.1696	rs2275831;rs52804137;rs56515208;rs56685513;rs2275831	686	O60308	CE104_HUMAN	V	686	ENSP00000367476:A686V	ENSP00000367476:A686V	A	-	2	0	CEP104	3735784	1.000000	0.71417	0.824000	0.32777	0.607000	0.37147	2.063000	0.41423	1.208000	0.43306	0.591000	0.81541	GCG	G|0.873;A|0.127	0.127	strong		0.378	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		A	3745924	G	A	3745924	3	1	22	1	0	0	0	0	1	0	0	0	8184	1087	38	1	752	1	KIAA0562	1	3745924	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44261	3745924	245504697	46	5154										
C1orf174	339448	hgsc.bcm.edu	37	chr1	3807388	3807388	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacaactctgcagccaccGagaggaagacttgcagcccc	9	16	2	2	rs4131373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:3807388G>A	ENST00000361605.3	-	3	461	c.363C>T	c.(361-363)ctC>ctT	p.L121L	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	121						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCAGCCACCGAGAGGAAGAC	0.562													G|||	732	0.146166	0.2458	0.1239	5008	,	,		19489	0.0129		0.1829	False		,,,				2504	0.1268				p.L121L		Atlas-SNP	.											.	C1orf174	20	.	0			c.C363T						PASS	.	G		1059,3347	387.5+/-326.5	123,813,1267	60	56	57		363	-8.1	0	1	dbSNP_108	57	1527,7073	287.0+/-298.0	140,1247,2913	no	coding-synonymous	C1orf174	NM_207356.2		263,2060,4180	AA,AG,GG		17.7558,24.0354,19.8831		121/244	3807388	2586,10420	2203	4300	6503	SO:0001819	synonymous_variant	339448	exon3			GCCACCGAGAGGA	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.363C>T	1.37:g.3807388G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	123	69	0.560976	NM_207356	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																			G|0.835;A|0.165	0.165	strong		0.562	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		A	3807388	G	A	3807388	2	1	22	1	0	0	0	0	0	0	0	1	2015	1045	37	1		1	C1orf174	1	3807388	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61464	3807388	245443233	47	5155										
AJAP1	55966	hgsc.bcm.edu	37	chr1	4772053	4772053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgtggacctgcccgcctgTgaggccctgggcccggggcc	17	17	0	1	rs1061968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:4772053T>C	ENST00000378191.4	+	2	504	c.123T>C	c.(121-123)tgT>tgC	p.C41C	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.C41C	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	41					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCCCGCCTGTGAGGCCCTGG	0.716													C|||	2638	0.526757	0.5212	0.5014	5008	,	,		10861	0.6567		0.3668	False		,,,				2504	0.5828				p.C41C		Atlas-SNP	.											AJAP1,NS,carcinoma,0,1	AJAP1	68	1	0			c.T123C						PASS	.	C	,	2212,2168		585,1042,563	54	74	67		123,123	-0.2	0.8	1	dbSNP_86	67	3110,5456		593,1924,1766	no	coding-synonymous,coding-synonymous	AJAP1	NM_001042478.1,NM_018836.3	,	1178,2966,2329	CC,CT,TT		36.3063,49.4977,41.1092	,	41/412,41/412	4772053	5322,7624	2190	4283	6473	SO:0001819	synonymous_variant	55966	exon2			CGCCTGTGAGGCC	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.123T>C	1.37:g.4772053T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	80	43	0.5375	NM_018836	Q9Y229	Silent	SNP	ENST00000378191.4	37	CCDS54.1																																																																																			T|0.549;C|0.451	0.451	strong		0.716	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		C	4772053	T	C	4772053	2	2	22	1	0	0	0	0	0	0	0	1	438	1702	59	2		2	AJAP1	1	4772053	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	964665	4772053	244478568	48	5156										
AJAP1	55966	hgsc.bcm.edu	37	chr1	4772716	4772716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccagtcccagcaacaaCggggaagtcacccagccccc	8	19	1	0	rs78250331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:4772716C>T	ENST00000378191.4	+	2	1167	c.786C>T	c.(784-786)aaC>aaT	p.N262N	AJAP1_ENST00000378190.3_Silent_p.N262N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	262					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCAGCAACAACGGGGAAGTCA	0.602													C|||	299	0.0597045	0.0348	0.0187	5008	,	,		16261	0.1429		0.002	False		,,,				2504	0.0961				p.N262N		Atlas-SNP	.											.	AJAP1	68	.	0			c.C786T						PASS	.	C	,	139,4267	98.5+/-137.1	2,135,2066	71	78	76		786,786	-7.2	0	1	dbSNP_131	76	15,8585	10.5+/-38.8	0,15,4285	no	coding-synonymous,coding-synonymous	AJAP1	NM_001042478.1,NM_018836.3	,	2,150,6351	TT,TC,CC		0.1744,3.1548,1.1841	,	262/412,262/412	4772716	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	55966	exon2			CAACAACGGGGAA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.786C>T	1.37:g.4772716C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	65	31	0.476923	NM_018836	Q9Y229	Silent	SNP	ENST00000378191.4	37	CCDS54.1																																																																																			C|0.978;T|0.022	0.022	strong		0.602	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		T	4772716	C	T	4772716	2	4	22	1	0	0	0	0	0	0	0	1	438	535	19	1		1	AJAP1	1	4772716	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	663	4772716	244477905	49	5157										
NPHP4	261734	hgsc.bcm.edu	37	chr1	5926507	5926507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagaaatatgtcccgtggTtccccggggccctgccaacc	10	15	1	1	rs555164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:5926507T>C	ENST00000378156.4	-	26	3835	c.3570A>G	c.(3568-3570)gaA>gaG	p.E1190E	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1190					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.E1190E(2)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCCGTGGTTCCCCGGGGC	0.562													C|||	1601	0.319688	0.1619	0.379	5008	,	,		17616	0.2837		0.4135	False		,,,				2504	0.4315				p.E1190E		Atlas-SNP	.											NPHP4,NS,carcinoma,0,1	NPHP4	119	1	2	Substitution - coding silent(2)	prostate(2)	c.A3570G						PASS	.	C		768,3102		79,610,1246	32	34	33		3570	3.2	1	1	dbSNP_83	33	3460,4784		760,1940,1422	no	coding-synonymous	NPHP4	NM_015102.3		839,2550,2668	CC,CT,TT		41.9699,19.845,34.9018		1190/1427	5926507	4228,7886	1935	4122	6057	SO:0001819	synonymous_variant	261734	exon26			CCGTGGTTCCCCG	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3570A>G	1.37:g.5926507T>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	139	49	0.352518	NM_015102	Q8IWC0	Silent	SNP	ENST00000378156.4	37	CCDS44052.1																																																																																			T|0.698;C|0.302	0.302	strong		0.562	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			C	5926507	T	C	5926507	2	2	22	1	0	0	0	0	0	0	0	1	10581	1722	60	2		2	NPHP4	1	5926507	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1153791	5926507	243324114	50	5158										
NPHP4	261734	hgsc.bcm.edu	37	chr1	5965824	5965824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccaggtgggagataccgGcctccaacgggaactcctgc	12	14	0	1	rs12093500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:5965824G>C	ENST00000378156.4	-	14	1896	c.1631C>G	c.(1630-1632)gCc>gGc	p.A544G	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	544			A -> G (in dbSNP:rs12093500). {ECO:0000269|PubMed:15776426}.		actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGATACCGGCCTCCAACGG	0.572													C|||	127	0.0253594	0.0877	0.0115	5008	,	,		18214	0.0		0.003	False		,,,				2504	0.0				p.A544G		Atlas-SNP	.											.	NPHP4	119	.	0			c.C1631G						PASS	.	C	GLY/ALA	306,3584		10,286,1649	28	31	30		1631	4.5	0.3	1	dbSNP_120	30	14,8254		0,14,4120	yes	missense	NPHP4	NM_015102.3	60	10,300,5769	CC,CG,GG		0.1693,7.8663,2.632	benign	544/1427	5965824	320,11838	1945	4134	6079	SO:0001583	missense	261734	exon14			ATACCGGCCTCCA	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1631C>G	1.37:g.5965824G>C	ENSP00000367398:p.Ala544Gly	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	132	64	0.484848	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	39	0.017857142857142856	30	0.06097560975609756	6	0.016574585635359115	0	0.0	3	0.00395778364116095	C	0.007	-1.936935	0.00484	0.078663	0.001693	ENSG00000131697	ENST00000378156	D	0.87334	-2.24	5.42	4.5	0.54988	.	0.527792	0.18448	N	0.140932	T	0.08626	0.0214	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06643	-1.0815	10	0.10377	T	0.69	.	16.1591	0.81686	0.0:0.6272:0.3728:0.0	rs12093500;rs61332996;rs12093500	544	O75161	NPHP4_HUMAN	G	544	ENSP00000367398:A544G	ENSP00000367398:A544G	A	-	2	0	NPHP4	5888411	.	.	0.285000	0.24819	0.013000	0.08279	.	.	0.644000	0.30656	-0.216000	0.12614	GCC	G|0.980;C|0.020	0.020	strong		0.572	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			C	5965824	G	C	5965824	3	2	22	1	0	0	0	0	1	0	0	0	10581	1203	42	4	2717	4	NPHP4	1	5965824	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39317	5965824	243284797	51	5159										
CHD5	26038	hgsc.bcm.edu	37	chr1	6204161	6204161	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcccaggtgcactggtcGtagggcaggtctttccactt	11	12	2	0	rs17436816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6204161G>A	ENST00000378021.1	-	0	1956				CHD5_ENST00000262450.3_Silent_p.Y619Y			O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCACTGGTCGTAGGGCAGGT	0.582													G|||	414	0.0826677	0.0151	0.2089	5008	,	,		20646	0.0337		0.1203	False		,,,				2504	0.0961				p.Y619Y		Atlas-SNP	.											.	CHD5	267	.	0			c.C1857T						PASS	.	G		143,4263	98.9+/-137.6	3,137,2063	262	208	226		1857	-3.4	0.9	1	dbSNP_123	226	1054,7546	223.1+/-260.0	78,898,3324	no	coding-synonymous	CHD5	NM_015557.2		81,1035,5387	AA,AG,GG		12.2558,3.2456,9.2034		619/1955	6204161	1197,11809	2203	4300	6503			26038	exon12			CTGGTCGTAGGGC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000378021.1:c.-1573C>T	1.37:g.6204161G>A		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	257	120	0.466926	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000378021.1	37																																																																																				G|0.919;A|0.081	0.081	strong		0.582	CHD5-201	KNOWN	basic	protein_coding	protein_coding		NM_015557		A	6204161	G	A	6204161	1	1	22	1	0	1	0	0	0	0	0	0	3328	1140	40	1		1	CHD5	1	6204161	De_novo_Start_OutOfFrame	SNP	G	TCGA-G8-6324-01A-11D-2210-10	238337	6204161	243046460	52	5160										
CHD5	26038	hgsc.bcm.edu	37	chr1	6209363	6209363	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagctctgggtccaggcaTacgagatggtaggccctcgg	14	12	1	1	rs12565328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6209363T>C	ENST00000262450.3	-	8	1203	c.1104A>G	c.(1102-1104)gtA>gtG	p.V368V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTCCAGGCATACGAGATGGT	0.652													C|||	2623	0.523762	0.7216	0.2147	5008	,	,		17436	0.6538		0.3082	False		,,,				2504	0.5634				p.V368V		Atlas-SNP	.											.	CHD5	267	.	0			c.A1104G						PASS	.	C		2866,1540	481.9+/-359.3	938,990,275	66	54	58		1104	-0.9	1	1	dbSNP_120	58	2466,6134	693.8+/-404.7	362,1742,2196	no	coding-synonymous	CHD5	NM_015557.2		1300,2732,2471	CC,CT,TT		28.6744,34.9523,40.9965		368/1955	6209363	5332,7674	2203	4300	6503	SO:0001819	synonymous_variant	26038	exon8			CAGGCATACGAGA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1104A>G	1.37:g.6209363T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	123	57	0.463415	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																			T|0.543;C|0.457	0.457	strong		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6209363	T	C	6209363	2	2	22	1	0	0	0	0	0	0	0	1	3328	1393	49	2		2	CHD5	1	6209363	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5202	6209363	243041258	53	5161										
CHD5	26038	hgsc.bcm.edu	37	chr1	6211183	6211183	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtggatgctggcgctgtcGaagtccgactcctccctctc	11	15	1	0	rs9434711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6211183G>A	ENST00000262450.3	-	7	1002	c.903C>T	c.(901-903)ttC>ttT	p.F301F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCGCTGTCGAAGTCCGACT	0.602													G|||	2535	0.50619	0.6906	0.2089	5008	,	,		19415	0.6528		0.3002	False		,,,				2504	0.5286				p.F301F		Atlas-SNP	.											.	CHD5	267	.	0			c.C903T						PASS	.			2701,1705	652.2+/-399.4	834,1033,336	98	84	88		903	-6.9	0.9	1	dbSNP_119	88	2423,6177	401.7+/-347.2	348,1727,2225	no	coding-synonymous	CHD5	NM_015557.2		1182,2760,2561	AA,AG,GG		28.1744,38.6972,39.3972		301/1955	6211183	5124,7882	2203	4300	6503	SO:0001819	synonymous_variant	26038	exon7			GCTGTCGAAGTCC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.903C>T	1.37:g.6211183G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	147	77	0.52381	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																			G|0.588;A|0.412	0.412	strong		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6211183	G	A	6211183	2	1	22	1	0	0	0	0	0	0	0	1	3328	1049	37	1		1	CHD5	1	6211183	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1820	6211183	243039438	54	5162										
RNF207	388591	hgsc.bcm.edu	37	chr1	6267523	6267523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacagctcaggggatggCgtggaggcggtgcgctgtgc	21	8	1	0	rs58587405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6267523C>T	ENST00000377939.4	+	3	403	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RNF207_ENST00000377948.2_5'UTR|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	92						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAGGGGATGGCGTGGAGGCGG	0.692													C|||	152	0.0303514	0.1059	0.0144	5008	,	,		10633	0.0		0.002	False		,,,				2504	0.0				p.G92G		Atlas-SNP	.											.	RNF207	45	.	0			c.C276T						PASS	.	C		427,3971		22,383,1794	23	26	25		276	3.6	0.4	1	dbSNP_129	25	5,8589		0,5,4292	no	coding-synonymous	RNF207	NM_207396.2		22,388,6086	TT,TC,CC		0.0582,9.709,3.3251		92/635	6267523	432,12560	2199	4297	6496	SO:0001819	synonymous_variant	388591	exon3			GGATGGCGTGGAG	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.276C>T	1.37:g.6267523C>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	294	152	0.517007	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	CCDS59.2																																																																																			C|0.966;T|0.034	0.034	strong		0.692	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		T	6267523	C	T	6267523	2	4	22	1	0	0	0	0	0	0	0	1	13474	755	27	1		1	RNF207	1	6267523	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56340	6267523	242983098	55	5163										
RNF207	388591	hgsc.bcm.edu	37	chr1	6269021	6269021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgagacgcaccgagcacgCatgttcgcgcgccacgacat	12	15	0	1	rs114798118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6269021C>T	ENST00000377939.4	+	4	532	c.405C>T	c.(403-405)cgC>cgT	p.R135R	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	135						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		ACCGAGCACGCATGTTCGCGC	0.701													C|||	517	0.103235	0.2481	0.0562	5008	,	,		9459	0.0476		0.0417	False		,,,				2504	0.0613				p.R135R		Atlas-SNP	.											.	RNF207	45	.	0			c.C405T						PASS	.	C		586,2932		27,532,1200	5	7	6		405	0.6	1	1	dbSNP_132	6	228,6972		4,220,3376	no	coding-synonymous	RNF207	NM_207396.2		31,752,4576	TT,TC,CC		3.1667,16.6572,7.5947		135/635	6269021	814,9904	1759	3600	5359	SO:0001819	synonymous_variant	388591	exon4			AGCACGCATGTTC	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.405C>T	1.37:g.6269021C>T		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	7	7	1	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	CCDS59.2																																																																																			C|0.894;T|0.106	0.106	strong		0.701	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		T	6269021	C	T	6269021	2	4	22	1	0	0	0	0	0	0	0	1	13474	697	25	2		2	RNF207	1	6269021	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1498	6269021	242981600	56	5164										
RNF207	388591	hgsc.bcm.edu	37	chr1	6269340	6269340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgcagggagagccgggcAcactgcgtggacctggaatc	15	11	1	1	rs4908865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6269340A>G	ENST00000377939.4	+	6	691	c.564A>G	c.(562-564)gcA>gcG	p.A188A	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	188						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAGCCGGGCACACTGCGTGG	0.746													G|||	721	0.14397	0.3011	0.0793	5008	,	,		10697	0.0813		0.0755	False		,,,				2504	0.1125				p.A188A		Atlas-SNP	.											.	RNF207	45	.	0			c.A564G						PASS	.	G		718,2718		65,588,1065	6	6	6		564	-4.8	0.6	1	dbSNP_111	6	391,7075		10,371,3352	no	coding-synonymous	RNF207	NM_207396.2		75,959,4417	GG,GA,AA		5.2371,20.8964,10.1724		188/635	6269340	1109,9793	1718	3733	5451	SO:0001819	synonymous_variant	388591	exon6			CCGGGCACACTGC	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.564A>G	1.37:g.6269340A>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	37	10	0.27027	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	CCDS59.2																																																																																			A|0.848;G|0.152	0.152	strong		0.746	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		G	6269340	A	G	6269340	2	3	22	1	0	0	0	0	0	0	0	1	13474	146	6	2		2	RNF207	1	6269340	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	319	6269340	242981281	57	5165										
RNF207	388591	hgsc.bcm.edu	37	chr1	6271125	6271125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgcgcgctgtctggagccActgctgctgctggggccacg	15	14	1	0	rs1052598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6271125A>G	ENST00000377939.4	+	12	1183	c.1056A>G	c.(1054-1056)ccA>ccG	p.P352P	RNF207_ENST00000377948.2_Intron	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	352						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTCTGGAGCCACTGCTGCTGC	0.672													G|||	673	0.134385	0.3517	0.0648	5008	,	,		16225	0.0476		0.0408	False		,,,				2504	0.0757				p.P352P		Atlas-SNP	.											RNF207,NS,carcinoma,+1,1	RNF207	45	1	0			c.A1056G						PASS	.	G		1225,2955		185,855,1050	14	19	17		1056	0.1	1	1	dbSNP_86	17	333,8089		8,317,3886	no	coding-synonymous	RNF207	NM_207396.2		193,1172,4936	GG,GA,AA		3.9539,29.3062,12.3631		352/635	6271125	1558,11044	2090	4211	6301	SO:0001819	synonymous_variant	388591	exon12			GGAGCCACTGCTG	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1056A>G	1.37:g.6271125A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	162	99	0.611111	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	CCDS59.2																																																																																			A|0.878;G|0.122	0.122	strong		0.672	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		G	6271125	A	G	6271125	2	3	22	1	0	0	0	0	0	0	0	1	13474	146	6	2		2	RNF207	1	6271125	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1785	6271125	242979496	58	5166										
RNF207	388591	hgsc.bcm.edu	37	chr1	6272078	6272078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcgagaacacgcccttcGcagagcactgccgccactat	11	15	0	2	rs12073329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6272078G>A	ENST00000377939.4	+	13	1388	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	RNF207_ENST00000377948.2_Missense_Mutation_p.R138H	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	421			A -> T (in dbSNP:rs12073329).			intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CACGCCCTTCGCAGAGCACTG	0.642													A|||	668	0.133387	0.3487	0.0648	5008	,	,		15200	0.0476		0.0408	False		,,,				2504	0.0746				p.A421T		Atlas-SNP	.											.	RNF207	45	.	0			c.G1261A						PASS	.	A	THR/ALA	1284,3080		193,898,1091	8	9	9		1261	-1.1	0.1	1	dbSNP_120	9	331,8195		10,311,3942	yes	missense	RNF207	NM_207396.2	58	203,1209,5033	AA,AG,GG		3.8822,29.4225,12.5291	benign	421/635	6272078	1615,11275	2182	4263	6445	SO:0001583	missense	388591	exon13			CCCTTCGCAGAGC	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1261G>A	1.37:g.6272078G>A	ENSP00000367173:p.Ala421Thr	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	152	74	0.486842	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	CCDS59.2	249|249	0.11401098901098901|0.11401098901098901	167|167	0.3394308943089431|0.3394308943089431	27|27	0.07458563535911603|0.07458563535911603	27|27	0.0472027972027972|0.0472027972027972	28|28	0.036939313984168866|0.036939313984168866	A|A	0.032|0.032	-1.325328|-1.325328	0.01309|0.01309	0.294225|0.294225	0.038822|0.038822	ENSG00000158286|ENSG00000158286	ENST00000377939|ENST00000377948	T|.	0.49720|.	0.77|.	4.36|4.36	-1.06|-1.06	0.10002|0.10002	.|.	0.563614|.	0.18758|.	N|.	0.131998|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01576|0.01576	-0.805|-0.805	0.58432|0.58432	P|P	2.9999999999752447E-6|2.9999999999752447E-6	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.45512|0.45512	-0.9256|-0.9256	9|5	0.02654|0.15952	T|T	1|0.53	0.6441|0.6441	7.0283|7.0283	0.24952|0.24952	0.3911:0.0:0.4821:0.1268|0.3911:0.0:0.4821:0.1268	rs12073329;rs12073329|rs12073329;rs12073329	421|.	Q6ZRF8|.	RN207_HUMAN|.	T|H	421|138	ENSP00000367173:A421T|.	ENSP00000367173:A421T|ENSP00000367183:R138H	A|R	+|+	1|2	0|0	RNF207|RNF207	6194665|6194665	0.061000|0.061000	0.20836|0.20836	0.079000|0.079000	0.20413|0.20413	0.106000|0.106000	0.19336|0.19336	0.354000|0.354000	0.20146|0.20146	-0.813000|-0.813000	0.04357|0.04357	-1.390000|-1.390000	0.01156|0.01156	GCA|CGC	G|0.882;A|0.118	0.118	strong		0.642	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		A	6272078	G	A	6272078	3	1	22	1	0	0	0	0	1	0	0	0	13474	1087	38	1	1307	1	RNF207	1	6272078	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	953	6272078	242978543	59	5167										
RNF207	388591	hgsc.bcm.edu	37	chr1	6278425	6278425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggaacaacgcggcctcaGccaggtaaagcaagtctctc	11	13	2	0	rs61746089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6278425G>A	ENST00000377939.4	+	17	1856	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T	RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	577						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGCGGCCTCAGCCAGGTAAAG	0.577													G|||	29	0.00579073	0.0204	0.0029	5008	,	,		20029	0.0		0.0	False		,,,				2504	0.0				p.A577T		Atlas-SNP	.											.	RNF207	45	.	0			c.G1729A						PASS	.	G	THR/ALA	79,4175		0,79,2048	59	70	66		1729	-1.1	0.7	1	dbSNP_129	66	0,8490		0,0,4245	yes	missense	RNF207	NM_207396.2	58	0,79,6293	AA,AG,GG		0.0,1.8571,0.6199	benign	577/635	6278425	79,12665	2127	4245	6372	SO:0001583	missense	388591	exon17			GCCTCAGCCAGGT	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1729G>A	1.37:g.6278425G>A	ENSP00000367173:p.Ala577Thr	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	96	51	0.53125	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	CCDS59.2	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	G	12.17	1.856674	0.32791	0.018571	0.0	ENSG00000158286	ENST00000377939	T	0.17691	2.26	5.1	-1.12	0.09808	.	1.899990	0.03308	N	0.190106	T	0.02807	0.0084	N	0.16478	0.41	0.53005	D	0.999968	B	0.06786	0.001	B	0.08055	0.003	T	0.39502	-0.9611	10	0.13470	T	0.59	-18.452	4.6334	0.12513	0.3114:0.3955:0.293:0.0	rs61746089	577	Q6ZRF8	RN207_HUMAN	T	577	ENSP00000367173:A577T	ENSP00000367173:A577T	A	+	1	0	RNF207	6201012	0.008000	0.16893	0.657000	0.29651	0.042000	0.13812	-0.175000	0.09825	0.123000	0.18342	-0.222000	0.12452	GCC	G|0.991;A|0.009	0.009	strong		0.577	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		A	6278425	G	A	6278425	3	1	22	1	0	0	0	0	1	0	0	0	13474	971	34	2	1791	2	RNF207	1	6278425	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6347	6278425	242972196	60	5168										
ACOT7	11332	hgsc.bcm.edu	37	chr1	6324747	6324747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgcttcttctcgtcctcGgtctcgggctgtggaccaca	11	14	3	0	rs61739537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6324747G>A	ENST00000377855.2	-	9	1199	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	ACOT7_ENST00000608083.1_Silent_p.T309T|ACOT7_ENST00000545482.1_Silent_p.T236T|ACOT7_ENST00000377842.3_Silent_p.T300T|ACOT7_ENST00000377845.3_Silent_p.T321T|ACOT7_ENST00000361521.4_Silent_p.T341T	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	351					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.T341T(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCTCGTCCTCGGTCTCGGGCT	0.647													G|||	99	0.0197684	0.062	0.0086	5008	,	,		19936	0.0		0.0089	False		,,,				2504	0.002				p.T351T	GBM(74;673 1226 4974 11850 13190)	Atlas-SNP	.											ACOT7,NS,carcinoma,0,1	ACOT7	71	1	1	Substitution - coding silent(1)	pancreas(1)	c.C1053T						PASS	.	G	,,,	244,4160	138.4+/-174.2	9,226,1967	143	102	116		1023,1053,963,900	-7.1	0.9	1	dbSNP_129	116	69,8531	40.3+/-97.0	1,67,4232	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACOT7	NM_007274.3,NM_181864.2,NM_181865.2,NM_181866.2	,,,	10,293,6199	AA,AG,GG		0.8023,5.5404,2.407	,,,	341/371,351/381,321/351,300/330	6324747	313,12691	2202	4300	6502	SO:0001819	synonymous_variant	11332	exon9			GTCCTCGGTCTCG	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1053C>T	1.37:g.6324747G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_181864	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	ENST00000377855.2	37	CCDS65.1																																																																																			G|0.972;A|0.028	0.028	strong		0.647	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		A	6324747	G	A	6324747	2	1	22	1	0	0	0	0	0	0	0	1	155	1103	39	1		1	ACOT7	1	6324747	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46322	6324747	242925874	61	5169										
TNFRSF25	8718	hgsc.bcm.edu	37	chr1	6524649	6524649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgcagggccccgcagtcTaggcatggttggcagtagaa	16	10	1	1	rs35137293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6524649T>C	ENST00000356876.3	-	4	513	c.426A>G	c.(424-426)ctA>ctG	p.L142L	TNFRSF25_ENST00000351959.5_Silent_p.L142L|TNFRSF25_ENST00000348333.3_Silent_p.L97L|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000377782.3_Silent_p.L142L|TNFRSF25_ENST00000351748.3_Intron	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	142					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGCAGTCTAGGCATGGTT	0.627													t|||	104	0.0207668	0.0734	0.0072	5008	,	,		16978	0.0		0.002	False		,,,				2504	0.0				p.L142L		Atlas-SNP	.											.	TNFRSF25	22	.	0			c.A426G						PASS	.	T	,,,,,	262,4144	147.6+/-182.1	5,252,1946	52	56	54		426,426,426,426,291,	-6.5	0	1	dbSNP_126	54	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	TNFRSF25	NM_001039664.1,NM_003790.2,NM_148965.1,NM_148966.1,NM_148967.1,NM_148970.1	,,,,,	5,258,6240	CC,CT,TT		0.0698,5.9464,2.0606	,,,,,	142/182,142/418,142/427,142/381,97/373,	6524649	268,12738	2203	4300	6503	SO:0001819	synonymous_variant	8718	exon4			GCAGTCTAGGCAT	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.426A>G	1.37:g.6524649T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	110	50	0.454545	NM_148966	B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	CCDS71.1																																																																																			T|0.978;C|0.022	0.022	strong		0.627	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		C	6524649	T	C	6524649	2	2	22	1	0	0	0	0	0	0	0	1	16293	1509	53	3		3	TNFRSF25	1	6524649	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	199902	6524649	242725972	62	5170										
TNFRSF25	8718	hgsc.bcm.edu	37	chr1	6525257	6525257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggagttgccgcagggctcCgtgcaaggggccttcaggta	17	10	1	0	rs45438594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6525257C>T	ENST00000356876.3	-	3	273	c.186G>A	c.(184-186)acG>acA	p.T62T	TNFRSF25_ENST00000351959.5_Silent_p.T62T|TNFRSF25_ENST00000348333.3_Intron|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000377782.3_Silent_p.T62T|TNFRSF25_ENST00000351748.3_Intron	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	62					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CGCAGGGCTCCGTGCAAGGGG	0.647													c|||	186	0.0371406	0.1135	0.0115	5008	,	,		16887	0.0		0.004	False		,,,				2504	0.0245				p.T62T		Atlas-SNP	.											.	TNFRSF25	22	.	0			c.G186A						PASS	.		,,,,,	397,4009	194.0+/-219.0	16,365,1822	45	43	44		186,186,186,186,,	-3.9	0.5	1	dbSNP_127	44	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron	TNFRSF25	NM_001039664.1,NM_003790.2,NM_148965.1,NM_148966.1,NM_148967.1,NM_148970.1	,,,,,	16,376,6111	TT,TC,CC		0.1279,9.0104,3.137	,,,,,	62/182,62/418,62/427,62/381,,	6525257	408,12598	2203	4300	6503	SO:0001819	synonymous_variant	8718	exon3			GGGCTCCGTGCAA	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.186G>A	1.37:g.6525257C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	88	49	0.556818	NM_148966	B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	CCDS71.1																																																																																			C|0.965;T|0.035	0.035	strong		0.647	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		T	6525257	C	T	6525257	2	4	22	1	0	0	0	0	0	0	0	1	16293	639	23	1		1	TNFRSF25	1	6525257	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	608	6525257	242725364	63	5171										
NOL9	79707	hgsc.bcm.edu	37	chr1	6614230	6614230	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccgcaccggtgggatgagGagaggccggtggcaactcga	19	10	0	2	rs10864625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6614230G>A	ENST00000377705.5	-	1	365	c.333C>T	c.(331-333)ctC>ctT	p.L111L	TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000351136.3_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	111					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGATGAGGAGAGGCCGGT	0.731													G|||	942	0.188099	0.2791	0.1311	5008	,	,		11221	0.1766		0.1322	False		,,,				2504	0.1748				p.L111L		Atlas-SNP	.											.	NOL9	49	.	0			c.C333T						PASS	.	G		630,2510		41,548,981	9	6	7		333	-0.8	0	1	dbSNP_120	7	559,5725		19,521,2602	no	coding-synonymous	NOL9	NM_024654.4		60,1069,3583	AA,AG,GG		8.8956,20.0637,12.6167		111/703	6614230	1189,8235	1570	3142	4712	SO:0001819	synonymous_variant	79707	exon1			GATGAGGAGAGGC	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.333C>T	1.37:g.6614230G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	CCDS80.1																																																																																			G|0.815;A|0.185	0.185	strong		0.731	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		A	6614230	G	A	6614230	2	1	22	1	0	0	0	0	0	0	0	1	10528	1161	41	2		2	NOL9	1	6614230	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88973	6614230	242636391	64	5172										
DNAJC11	55735	hgsc.bcm.edu	37	chr1	6705874	6705874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccacagtgaagtggctgGttttagtgtctcggacgatg	16	7	1	1	rs200454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:6705874G>C	ENST00000377577.5	-	8	992	c.869C>G	c.(868-870)aCc>aGc	p.T290S	DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000377573.5_Missense_Mutation_p.T200S|DNAJC11_ENST00000294401.7_Missense_Mutation_p.T290S|DNAJC11_ENST00000542246.1_Missense_Mutation_p.T252S|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	290			T -> A (in dbSNP:rs200454).|T -> S (in dbSNP:rs200454). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTGGCTGGTTTTAGTGTC	0.592													G|||	807	0.161142	0.1982	0.3559	5008	,	,		17937	0.002		0.2266	False		,,,				2504	0.0695				p.T290S		Atlas-SNP	.											.	DNAJC11	93	.	0			c.C869G						PASS	.	G	SER/THR	986,3420	353.3+/-312.1	113,760,1330	138	131	133		869	4.3	1	1	dbSNP_79	133	1771,6829	306.6+/-308.0	170,1431,2699	yes	missense	DNAJC11	NM_018198.3	58	283,2191,4029	CC,CG,GG		20.593,22.3786,21.1979	benign	290/560	6705874	2757,10249	2203	4300	6503	SO:0001583	missense	55735	exon8			TGGCTGGTTTTAG	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.869C>G	1.37:g.6705874G>C	ENSP00000366800:p.Thr290Ser	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	406	0.1858974358974359	113	0.22967479674796748	118	0.3259668508287293	2	0.0034965034965034965	173	0.22823218997361477	G	9.833	1.188875	0.21954	0.223786	0.20593	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T	0.22336	2.56;2.55;2.29;1.96;2.51	5.27	4.33	0.51752	.	0.136479	0.64402	D	0.000003	T	0.00012	0.0000	N	0.11427	0.14	0.24466	P	0.99441492	B;B;B	0.12013	0.0;0.003;0.005	B;B;B	0.10450	0.0;0.005;0.002	T	0.42582	-0.9443	9	0.09084	T	0.74	-16.7799	12.0357	0.53423	0.0:0.0:0.6861:0.3139	rs200454;rs201177;rs3949837;rs200454	200;290;290	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	S	290;290;252;200;320	ENSP00000366800:T290S;ENSP00000294401:T290S;ENSP00000444020:T252S;ENSP00000366796:T200S;ENSP00000410194:T320S	ENSP00000294401:T290S	T	-	2	0	DNAJC11	6628461	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.913000	0.39956	1.172000	0.42781	0.650000	0.86243	ACC	G|0.786;C|0.214	0.214	strong		0.592	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		C	6705874	G	C	6705874	3	2	22	1	0	0	0	0	1	0	0	0	4630	1261	44	4	846	4	DNAJC11	1	6705874	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91644	6705874	242544747	65	5173										
PER3	8863	hgsc.bcm.edu	37	chr1	7880585	7880585	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaacaaatggacggtccatAgacacaggaggaggagctcc	12	11	0	1	rs17031601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:7880585A>T	ENST00000361923.2	+	15	1993	c.1818A>T	c.(1816-1818)atA>atT	p.I606I	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Silent_p.I614I	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	606	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GACGGTCCATAGACACAGGAG	0.507													A|||	67	0.0133786	0.0477	0.0058	5008	,	,		18040	0.0		0.0	False		,,,				2504	0.0				p.I606I		Atlas-SNP	.											.	PER3	95	.	0			c.A1818T						PASS	.	A		174,4232	115.4+/-153.4	3,168,2032	79	65	70		1818	-0.2	0	1	dbSNP_123	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PER3	NM_016831.1		3,171,6329	TT,TA,AA		0.0349,3.9492,1.3609		606/1202	7880585	177,12829	2203	4300	6503	SO:0001819	synonymous_variant	8863	exon15			GTCCATAGACACA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1818A>T	1.37:g.7880585A>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	213	113	0.530516	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	CCDS89.1																																																																																			A|0.985;T|0.015	0.015	strong		0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7880585	A	T	7880585	2	4	22	1	0	0	0	0	0	0	0	1	11731	410	15	5		5	PER3	1	7880585	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1174711	7880585	241370036	66	5174										
PER3	8863	hgsc.bcm.edu	37	chr1	7887234	7887234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggaaagggaagcacaagCggaagaagctgccggagccg	17	9	0	1	rs35687686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:7887234C>T	ENST00000361923.2	+	17	2396	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.R749W	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	741	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCACAAGCGGAAGAAGCT	0.597													C|||	30	0.00599042	0.0197	0.0058	5008	,	,		15161	0.0		0.0	False		,,,				2504	0.0				p.R741W		Atlas-SNP	.											PER3,colon,carcinoma,0,1	PER3	95	1	0			c.C2221T						PASS	.	C	TRP/ARG	70,4246		1,68,2089	19	24	22		2221	1.6	0.1	1	dbSNP_126	22	1,8501		0,1,4250	yes	missense	PER3	NM_016831.1	101	1,69,6339	TT,TC,CC		0.0118,1.6219,0.5539	probably-damaging	741/1202	7887234	71,12747	2158	4251	6409	SO:0001583	missense	8863	exon17			CACAAGCGGAAGA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2221C>T	1.37:g.7887234C>T	ENSP00000355031:p.Arg741Trp	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	12	0.005494505494505495	10	0.02032520325203252	2	0.0055248618784530384	0	0.0	0	0.0	C	10.54	1.377888	0.24944	0.016219	1.18E-4	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.13778	2.56;2.6	4.52	1.64	0.23874	.	2.148170	0.02588	N	0.099653	T	0.06188	0.0160	L	0.42529	1.33	0.09310	N	1	B;P;P;B	0.40180	0.179;0.581;0.705;0.179	B;B;B;B	0.31686	0.019;0.063;0.134;0.019	T	0.32161	-0.9917	10	0.87932	D	0	.	7.6166	0.28160	0.0:0.7331:0.0:0.2669	rs35687686	741;749;749;741	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	W	749;741	ENSP00000366755:R749W;ENSP00000355031:R741W	ENSP00000355031:R741W	R	+	1	2	PER3	7809821	0.991000	0.36638	0.061000	0.19648	0.054000	0.15201	0.501000	0.22578	0.181000	0.19994	0.561000	0.74099	CGG	C|0.993;T|0.007	0.007	strong		0.597	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7887234	C	T	7887234	3	4	22	1	0	0	0	0	1	0	0	0	11731	759	27	1	2287	1	PER3	1	7887234	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6649	7887234	241363387	67	5175										
PER3	8863	hgsc.bcm.edu	37	chr1	7887499	7887499	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctgcatgggctgccctTgtccgagggcttgcagcctt	14	13	0	0	rs35899625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:7887499T>G	ENST00000361923.2	+	17	2661	c.2486T>G	c.(2485-2487)tTg>tGg	p.L829W	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.L837W	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	829	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGCCCTTGTCCGAGGGC	0.592													T|||	12	0.00239617	0.0083	0.0014	5008	,	,		17848	0.0		0.0	False		,,,				2504	0.0				p.L829W		Atlas-SNP	.											.	PER3	95	.	0			c.T2486G						PASS	.	T	TRP/LEU	46,4360	48.2+/-83.0	1,44,2158	104	104	104		2486	-1.6	0	1	dbSNP_126	104	0,8600		0,0,4300	yes	missense	PER3	NM_016831.1	61	1,44,6458	GG,GT,TT		0.0,1.044,0.3537	possibly-damaging	829/1202	7887499	46,12960	2203	4300	6503	SO:0001583	missense	8863	exon17			TGCCCTTGTCCGA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2486T>G	1.37:g.7887499T>G	ENSP00000355031:p.Leu829Trp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	207	116	0.560386	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	T	14.56	2.570910	0.45798	0.01044	0.0	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.11063	2.81;2.81	3.82	-1.61	0.08399	.	2.355770	0.02257	N	0.067230	T	0.10981	0.0268	N	0.14661	0.345	0.09310	N	1	D;D;D;D	0.60575	0.979;0.983;0.988;0.979	P;P;P;P	0.62089	0.793;0.842;0.898;0.793	T	0.32666	-0.9898	10	0.38643	T	0.18	.	9.3251	0.37988	0.0:0.4119:0.0:0.5881	rs35899625	829;837;837;829	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	W	837;829;40	ENSP00000366755:L837W;ENSP00000355031:L829W	ENSP00000355031:L829W	L	+	2	0	PER3	7810086	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.204000	0.10235	-0.337000	0.08149	TTG	T|0.995;G|0.005	0.005	strong		0.592	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7887499	T	G	7887499	3	3	22	1	0	0	0	0	1	0	0	0	11731	1821	63	5	2552	5	PER3	1	7887499	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	265	7887499	241363122	68	5176										
RERE	473	hgsc.bcm.edu	37	chr1	8415621	8415621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggctgctgacatgggggGtgggatggccccaggcaggt	21	8	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:8415621G>A	ENST00000337907.3	-	23	5159	c.4525C>T	c.(4525-4527)Ccc>Tcc	p.P1509S	RERE_ENST00000377464.1_Missense_Mutation_p.P1241S|RERE_ENST00000400907.2_Missense_Mutation_p.P527S|RERE_ENST00000476556.1_Missense_Mutation_p.P955S|RERE_ENST00000400908.2_Missense_Mutation_p.P1509S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1509	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GACATGGGGGGTGGGATGGCC	0.652																																					p.P1509S		Atlas-SNP	.											.	RERE	129	.	0			c.C4525T						PASS	.						15	17	16					1																	8415621		2198	4291	6489	SO:0001583	missense	473	exon23			TGGGGGGTGGGAT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4525C>T	1.37:g.8415621G>A	ENSP00000338629:p.Pro1509Ser	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	58	36	0.62069	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870072	0.91587	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.47177	0.85;0.85;0.85	5.98	5.98	0.97165	.	.	.	.	.	T	0.64450	0.2599	L	0.60455	1.87	0.80722	D	1	D	0.54772	0.968	P	0.60117	0.869	T	0.61855	-0.6977	9	0.52906	T	0.07	-25.8584	19.4247	0.94737	0.0:0.0:1.0:0.0	.	1509	Q9P2R6	RERE_HUMAN	S	1509;1241;527;955;1509;165	ENSP00000338629:P1509S;ENSP00000366684:P1241S;ENSP00000383700:P1509S	ENSP00000338629:P1509S	P	-	1	0	RERE	8338208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.843000	0.97960	0.585000	0.79938	CCC	.	.	none		0.652	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8415621	G	A	8415621	3	1	22	1	0	0	0	0	1	0	0	0	13231	1261	44	2	183	2	RERE	1	8415621	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	528122	8415621	240835000	69	5177										
RERE	473	hgsc.bcm.edu	37	chr1	8420966	8420966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccaaagggctgtgggggGcctgggtgctgcagcagggg	22	8	0	0	rs77608355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:8420966G>A	ENST00000337907.3	-	19	3235	c.2601C>T	c.(2599-2601)ggC>ggT	p.G867G	RERE_ENST00000377464.1_Silent_p.G599G|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.G313G|RERE_ENST00000400908.2_Silent_p.G867G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	867	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTGTGGGGGGCCTGGGTGCT	0.726													G|||	162	0.0323482	0.1165	0.0115	5008	,	,		10147	0.0		0.0	False		,,,				2504	0.0				p.G867G		Atlas-SNP	.											.	RERE	129	.	0			c.C2601T						PASS	.	G	,,	201,3379		0,201,1589	3	3	3		2601,939,2601	-10.4	0.5	1	dbSNP_131	3	2,7358		0,2,3678	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	0,203,5267	AA,AG,GG		0.0272,5.6145,1.8556	,,	867/1567,313/1013,867/1567	8420966	203,10737	1790	3680	5470	SO:0001819	synonymous_variant	473	exon19			TGGGGGGCCTGGG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2601C>T	1.37:g.8420966G>A		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	11	9	0.818182	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																			G|0.972;A|0.028	0.028	strong		0.726	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8420966	G	A	8420966	2	1	22	1	0	0	0	0	0	0	0	1	13231	1190	42	2		2	RERE	1	8420966	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5345	8420966	240829655	70	5178										
RERE	473	hgsc.bcm.edu	37	chr1	8421092	8421092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccagtcagaggctgcagCgggggatgtggcgagggatg	20	8	1	1	rs2784735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:8421092C>T	ENST00000337907.3	-	19	3109	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P	RERE_ENST00000377464.1_Silent_p.P557P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P271P|RERE_ENST00000400908.2_Silent_p.P825P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	825	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGGCTGCAGCGGgggatgtg	0.726													c|||	2293	0.457867	0.1899	0.5115	5008	,	,		12102	0.8353		0.4553	False		,,,				2504	0.3957				p.P825P		Atlas-SNP	.											RERE,NS,carcinoma,0,1	RERE	129	1	0			c.G2475A						PASS	.	C	,,	709,2809		128,453,1178	3	3	3		2475,813,2475	-10.4	0	1	dbSNP_100	3	2774,4342		656,1462,1440	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	784,1915,2618	TT,TC,CC		38.9826,20.1535,32.7534	,,	825/1567,271/1013,825/1567	8421092	3483,7151	1759	3558	5317	SO:0001819	synonymous_variant	473	exon19			CTGCAGCGGGGGA	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2475G>A	1.37:g.8421092C>T		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																			C|0.486;T|0.514	0.514	strong		0.726	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8421092	C	T	8421092	2	4	22	1	0	0	0	0	0	0	0	1	13231	755	27	1		1	RERE	1	8421092	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	126	8421092	240829529	71	5179										
CA6	765	hgsc.bcm.edu	37	chr1	9009452	9009452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggggctcaatatgacaggCtatgagacccaggcagggga	15	8	1	2	rs61746465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9009452C>T	ENST00000377443.2	+	2	214	c.210C>T	c.(208-210)ggC>ggT	p.G70G	CA6_ENST00000377442.2_Intron|CA6_ENST00000480186.3_Silent_p.G70G|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Silent_p.G70G	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	70			G -> A (in dbSNP:rs2274329).		bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	ATATGACAGGCTATGAGACCC	0.607													C|||	61	0.0121805	0.0439	0.0029	5008	,	,		20134	0.0		0.001	False		,,,				2504	0.0				p.G70G		Atlas-SNP	.											.	CA6	47	.	0			c.C210T						PASS	.	C		149,4257	102.1+/-140.7	5,139,2059	59	48	52		210	4.4	0.9	1	dbSNP_129	52	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CA6	NM_001215.2		5,141,6357	TT,TC,CC		0.0233,3.3818,1.161		70/309	9009452	151,12855	2203	4300	6503	SO:0001819	synonymous_variant	765	exon2			GACAGGCTATGAG	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.210C>T	1.37:g.9009452C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	111	64	0.576577	NM_001270500	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																			C|0.988;T|0.012	0.012	strong		0.607	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			T	9009452	C	T	9009452	2	4	22	1	0	0	0	0	0	0	0	1	2521	784	28	2		2	CA6	1	9009452	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	588360	9009452	240241169	72	5180										
CA6	765	hgsc.bcm.edu	37	chr1	9030964	9030964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttactggatcaccgcaaCaagaccatccacaacgatta	5	14	1	1	rs3737665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9030964C>T	ENST00000377443.2	+	7	772	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CA6_ENST00000377442.2_Silent_p.N196N|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Silent_p.N256N	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	256					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	ATCACCGCAACAAGACCATCC	0.502													C|||	1445	0.288538	0.1165	0.2983	5008	,	,		19477	0.5357		0.2097	False		,,,				2504	0.3405				p.N256N		Atlas-SNP	.											.	CA6	47	.	0			c.C768T						PASS	.	C		715,3691	298.1+/-285.1	63,589,1551	148	136	140		768	-2	0	1	dbSNP_107	140	1767,6833	319.2+/-314.1	184,1399,2717	yes	coding-synonymous	CA6	NM_001215.2		247,1988,4268	TT,TC,CC		20.5465,16.2279,19.0835		256/309	9030964	2482,10524	2203	4300	6503	SO:0001819	synonymous_variant	765	exon7			CCGCAACAAGACC	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.768C>T	1.37:g.9030964C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_001270500	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																			C|0.763;T|0.237	0.237	strong		0.502	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			T	9030964	C	T	9030964	2	4	22	1	0	0	0	0	0	0	0	1	2521	477	17	2		2	CA6	1	9030964	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21512	9030964	240219657	73	5181										
SLC2A7	155184	hgsc.bcm.edu	37	chr1	9083094	9083094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcccgtccatgaatgttGcgtgtcgctcaaagtaggtt	11	10	1	1	rs61744620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9083094G>T	ENST00000400906.1	-	3	193	c.194C>A	c.(193-195)gCa>gAa	p.A65E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	65					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CATGAATGTTGCGTGTCGCTC	0.502													G|||	118	0.0235623	0.0847	0.0086	5008	,	,		20374	0.0		0.0	False		,,,				2504	0.0				p.A65E		Atlas-SNP	.											SLC2A7,rectum,carcinoma,-1,2	SLC2A7	56	2	0			c.C194A						PASS	.	G	GLU/ALA	324,4082	172.3+/-202.3	18,288,1897	171	158	162		194	1.6	0	1	dbSNP_129	162	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC2A7	NM_207420.2	107	18,289,6196	TT,TG,GG		0.0116,7.3536,2.4988	benign	65/513	9083094	325,12681	2203	4300	6503	SO:0001583	missense	155184	exon3			AATGTTGCGTGTC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.194C>A	1.37:g.9083094G>T	ENSP00000383698:p.Ala65Glu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_207420	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	56	0.02564102564102564	52	0.10569105691056911	4	0.011049723756906077	0	0.0	0	0.0	G	13.62	2.292105	0.40594	0.073536	1.16E-4	ENSG00000197241	ENST00000400906	T	0.73047	-0.71	4.68	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.305652	0.30210	N	0.010158	T	0.01287	0.0042	N	0.04994	-0.135	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.03086	-1.1074	10	0.44086	T	0.13	.	15.0439	0.71813	0.0:0.5434:0.4566:0.0	.	65	Q6PXP3	GTR7_HUMAN	E	65	ENSP00000383698:A65E	ENSP00000383698:A65E	A	-	2	0	SLC2A7	9005681	0.000000	0.05858	0.002000	0.10522	0.305000	0.27757	1.115000	0.31209	0.567000	0.29293	0.556000	0.70494	GCA	G|0.974;T|0.026	0.026	strong		0.502	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		T	9083094	G	T	9083094	3	4	22	1	0	0	0	0	1	0	0	0	14550	1319	46	4	1384	4	SLC2A7	1	9083094	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52130	9083094	240167527	74	5182										
H6PD	9563	hgsc.bcm.edu	37	chr1	9322194	9322194	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacggaggtcctcaccctCgtggccatggagctgcccca	12	16	1	1	rs145706807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9322194C>T	ENST00000377403.2	+	4	1124	c.822C>T	c.(820-822)ctC>ctT	p.L274L	H6PD_ENST00000602477.1_Silent_p.L285L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	274	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCACCCTCGTGGCCATGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.0				p.L274L		Atlas-SNP	.											.	H6PD	71	.	0			c.C822T						PASS	.	C		7,4399	14.3+/-33.2	0,7,2196	68	63	65		822	-10.5	0.2	1	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	H6PD	NM_004285.3		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		274/792	9322194	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	9563	exon4			CACCCTCGTGGCC	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.822C>T	1.37:g.9322194C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	213	126	0.591549	NM_004285	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																			C|0.999;T|0.001	0.001	strong		0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		T	9322194	C	T	9322194	2	4	22	1	0	0	0	0	0	0	0	1	6936	871	31	1		1	H6PD	1	9322194	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	239100	9322194	239928427	75	5183										
H6PD	9563	hgsc.bcm.edu	37	chr1	9324571	9324571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccagggcgcccagatctaTgccagggagatctcagccct	12	14	2	2	rs9434742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9324571T>C	ENST00000377403.2	+	5	2321	c.2019T>C	c.(2017-2019)taT>taC	p.Y673Y	H6PD_ENST00000602477.1_Silent_p.Y684Y	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	673	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGATCTATGCCAGGGAGA	0.652													C|||	2018	0.402955	0.497	0.4207	5008	,	,		18852	0.1657		0.4115	False		,,,				2504	0.499				p.Y673Y		Atlas-SNP	.											H6PD,NS,carcinoma,0,1	H6PD	71	1	0			c.T2019C						PASS	.	C		2150,2256	582.9+/-385.7	526,1098,579	53	56	55		2019	-8.9	0	1	dbSNP_119	55	3408,5188	627.4+/-398.0	653,2102,1543	no	coding-synonymous	H6PD	NM_004285.3		1179,3200,2122	CC,CT,TT		39.6463,48.7971,42.7473		673/792	9324571	5558,7444	2203	4298	6501	SO:0001819	synonymous_variant	9563	exon5			GATCTATGCCAGG	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2019T>C	1.37:g.9324571T>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	151	151	1	NM_004285	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																			T|0.603;C|0.397	0.397	strong		0.652	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		C	9324571	T	C	9324571	2	2	22	1	0	0	0	0	0	0	0	1	6936	1471	51	2		2	H6PD	1	9324571	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2377	9324571	239926050	76	5184										
H6PD	9563	hgsc.bcm.edu	37	chr1	9324670	9324670	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctccctcttcccacagtcAcccactggcctggatggcga	9	18	2	0	rs9434743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9324670A>G	ENST00000377403.2	+	5	2420	c.2118A>G	c.(2116-2118)tcA>tcG	p.S706S	H6PD_ENST00000602477.1_Silent_p.S717S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	706	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCACAGTCACCCACTGGCC	0.662													G|||	2014	0.402157	0.5106	0.428	5008	,	,		16647	0.1538		0.4016	False		,,,				2504	0.4939				p.S706S		Atlas-SNP	.											.	H6PD	71	.	0			c.A2118G						PASS	.	G		2176,2230	582.1+/-385.5	534,1108,561	52	51	51		2118	-8.6	0	1	dbSNP_119	51	3336,5262	630.5+/-398.4	637,2062,1600	no	coding-synonymous	H6PD	NM_004285.3		1171,3170,2161	GG,GA,AA		38.7997,49.3872,42.387		706/792	9324670	5512,7492	2203	4299	6502	SO:0001819	synonymous_variant	9563	exon5			ACAGTCACCCACT	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2118A>G	1.37:g.9324670A>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	157	65	0.414013	NM_004285	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																			A|0.603;G|0.397	0.397	strong		0.662	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		G	9324670	A	G	9324670	2	3	22	1	0	0	0	0	0	0	0	1	6936	146	6	2		2	H6PD	1	9324670	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	99	9324670	239925951	77	5185										
SPSB1	80176	hgsc.bcm.edu	37	chr1	9416151	9416151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatcgctcaatgtctttgtGaaggaggacgacaagctcat	11	9	3	1	rs9435243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9416151G>A	ENST00000328089.6	+	2	542	c.201G>A	c.(199-201)gtG>gtA	p.V67V	SPSB1_ENST00000377399.2_Silent_p.V67V|SPSB1_ENST00000357898.3_Silent_p.V67V	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	67	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ATGTCTTTGTGAAGGAGGACG	0.582													G|||	1299	0.259385	0.2368	0.3401	5008	,	,		20489	0.2748		0.1998	False		,,,				2504	0.2781				p.V67V		Atlas-SNP	.											.	SPSB1	22	.	0			c.G201A						PASS	.	G		1056,3350	387.7+/-326.6	147,762,1294	174	169	170		201	2.2	1	1	dbSNP_119	170	1998,6602	350.7+/-328.0	230,1538,2532	no	coding-synonymous	SPSB1	NM_025106.3		377,2300,3826	AA,AG,GG		23.2326,23.9673,23.4815		67/274	9416151	3054,9952	2203	4300	6503	SO:0001819	synonymous_variant	80176	exon2			CTTTGTGAAGGAG		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.201G>A	1.37:g.9416151G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	128	70	0.546875	NM_025106	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	CCDS102.1																																																																																			G|0.765;A|0.235	0.235	strong		0.582	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		A	9416151	G	A	9416151	2	1	22	1	0	0	0	0	0	0	0	1	15111	1277	45	2		2	SPSB1	1	9416151	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91481	9416151	239834470	78	5186										
TMEM201	199953	hgsc.bcm.edu	37	chr1	9671935	9671935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggctgctcggaggaggcCgccacctggagaggtctgta	18	10	1	1	rs4073292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9671935C>T	ENST00000340381.6	+	10	1899	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A	TMEM201_ENST00000377376.4_Silent_p.A606A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	630					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGGAGGAGGCCGCCACCTGGA	0.642													C|||	355	0.0708866	0.2564	0.0202	5008	,	,		15597	0.0		0.002	False		,,,				2504	0.0				p.A630A		Atlas-SNP	.											.	TMEM201	63	.	0			c.C1890T						PASS	.	C		298,1086		35,228,429	21	21	21		1890	-2.5	0	1	dbSNP_108	21	4,3178		0,4,1587	no	coding-synonymous	TMEM201	NM_001130924.2		35,232,2016	TT,TC,CC		0.1257,21.5318,6.6141		630/667	9671935	302,4264	692	1591	2283	SO:0001819	synonymous_variant	199953	exon10			GGAGGCCGCCACC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1890C>T	1.37:g.9671935C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	86	44	0.511628	NM_001130924	B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	CCDS44055.2	154	0.07051282051282051	145	0.29471544715447157	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	C	0.113	-1.136063	0.01742	0.215318	0.001257	ENSG00000188807	ENST00000416541	.	.	.	5.28	-2.46	0.06461	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.34304	-0.9834	3	.	.	.	-6.4317	7.9697	0.30119	0.0:0.4376:0.1547:0.4077	rs4073292;rs17034220;rs4073292	.	.	.	C	516	.	.	R	+	1	0	TMEM201	9594522	0.000000	0.05858	0.011000	0.14972	0.058000	0.15608	-0.270000	0.08584	-0.319000	0.08652	-1.134000	0.01955	CGC	C|0.934;T|0.066	0.066	strong		0.642	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		T	9671935	C	T	9671935	2	4	22	1	0	0	0	0	0	0	0	1	16123	639	23	1		1	TMEM201	1	9671935	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	255784	9671935	239578686	79	5187										
PIK3CD	5293	hgsc.bcm.edu	37	chr1	9784423	9784423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcccattcatcctcacctaCgactttgtccatgtgattca	5	14	3	1	rs11121484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9784423C>T	ENST00000377346.4	+	22	3003	c.2808C>T	c.(2806-2808)taC>taT	p.Y936Y	PIK3CD_ENST00000536656.1_Silent_p.Y960Y|PIK3CD_ENST00000361110.2_Silent_p.Y960Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	936	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCCTCACCTACGACTTTGTCC	0.517													T|||	1532	0.305911	0.5983	0.219	5008	,	,		21084	0.131		0.0755	False		,,,				2504	0.3896				p.Y936Y		Atlas-SNP	.											.	PIK3CD	86	.	0			c.C2808T						PASS	.	T		2271,2135	578.2+/-384.6	588,1095,520	104	117	113		2808	-3.2	1	1	dbSNP_120	113	727,7873	786.7+/-407.6	33,661,3606	no	coding-synonymous	PIK3CD	NM_005026.3		621,1756,4126	TT,TC,CC		8.4535,48.4567,23.0509		936/1045	9784423	2998,10008	2203	4300	6503	SO:0001819	synonymous_variant	5293	exon22			CACCTACGACTTT		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2808C>T	1.37:g.9784423C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	143	73	0.51049	NM_005026	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	CCDS104.1																																																																																			C|0.800;T|0.200	0.200	strong		0.517	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		T	9784423	C	T	9784423	2	4	22	1	0	0	0	0	0	0	0	1	11915	547	19	1		1	PIK3CD	1	9784423	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	112488	9784423	239466198	80	5188										
CLSTN1	22883	hgsc.bcm.edu	37	chr1	9804693	9804693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagctcggcagtgcccgCggccgcacctgaagccacag	13	17	0	1	rs7550295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:9804693C>T	ENST00000377298.4	-	8	1786	c.994G>A	c.(994-996)Gcg>Acg	p.A332T	CLSTN1_ENST00000377288.3_Missense_Mutation_p.A332T|CLSTN1_ENST00000361311.4_Missense_Mutation_p.A322T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	332			A -> T (in dbSNP:rs7550295).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGTGCCCGCGGCCGCACCT	0.632													C|||	992	0.198083	0.2723	0.1628	5008	,	,		14632	0.1508		0.0497	False		,,,				2504	0.3241				p.A332T		Atlas-SNP	.											.	CLSTN1	88	.	0			c.G994A						PASS	.	C	THR/ALA,THR/ALA	1026,3380		122,782,1299	33	25	28		994,964	-6	0	1	dbSNP_116	28	438,8160		19,400,3880	yes	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	58,58	141,1182,5179	TT,TC,CC		5.0942,23.2864,11.2581	benign,benign	332/982,322/972	9804693	1464,11540	2203	4299	6502	SO:0001583	missense	22883	exon8			TGCCCGCGGCCGC	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.994G>A	1.37:g.9804693C>T	ENSP00000366513:p.Ala332Thr	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	49	22	0.44898	NM_001009566	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	322	0.14743589743589744	134	0.27235772357723576	53	0.1464088397790055	101	0.17657342657342656	34	0.044854881266490766	C	12.45	1.943043	0.34283	0.232864	0.050942	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.8	-6.0	0.02206	Concanavalin A-like lectin/glucanase (1);	0.397427	0.31041	N	0.008379	T	0.00012	0.0000	N	0.01352	-0.895	0.48511	P	3.3199999999999896E-4	B;B;B	0.32071	0.242;0.355;0.242	B;B;B	0.30401	0.054;0.115;0.054	T	0.41342	-0.9514	9	0.23891	T	0.37	-4.2631	2.0135	0.03493	0.4898:0.1173:0.2463:0.1466	rs7550295;rs60924364;rs7550295	332;322;332	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	T	332;322;152;332;332	ENSP00000366513:A332T;ENSP00000354997:A322T;ENSP00000401934:A152T;ENSP00000366502:A332T	ENSP00000354997:A322T	A	-	1	0	CLSTN1	9727280	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	-0.104000	0.10923	-1.301000	0.02338	-1.229000	0.01577	GCG	C|0.864;T|0.136	0.136	strong		0.632	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			T	9804693	C	T	9804693	3	4	22	1	0	0	0	0	1	0	0	0	3561	768	27	1	1999	1	CLSTN1	1	9804693	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20270	9804693	239445928	81	5189										
UBE4B	10277	hgsc.bcm.edu	37	chr1	10211588	10211588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctctctccaccaagttGttggtaccttccctgatgaa	6	14	1	2	rs149899336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:10211588G>A	ENST00000253251.8	+	20	3347	c.2508G>A	c.(2506-2508)ttG>ttA	p.L836L	UBE4B_ENST00000377157.3_Silent_p.L720L|UBE4B_ENST00000343090.6_Silent_p.L965L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCACCAAGTTGTTGGTACCTT	0.453													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22768	0.0		0.0	False		,,,				2504	0.0				p.L965L		Atlas-SNP	.											.	UBE4B	233	.	0			c.G2895A						PASS	.	G	,	15,4391	22.3+/-47.3	0,15,2188	166	152	157		2895,2508	4.2	0.9	1	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	,	965/1303,836/1174	10211588	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	10277	exon21			CAAGTTGTTGGTA	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2508G>A	1.37:g.10211588G>A		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	179	86	0.480447	NM_001105562		Silent	SNP	ENST00000253251.8	37	CCDS110.1																																																																																			G|0.999;A|0.001	0.001	strong		0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		A	10211588	G	A	10211588	2	1	22	1	0	0	0	0	0	0	0	1	16880	1368	48	2		2	UBE4B	1	10211588	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	406895	10211588	239039033	82	5190										
UBE4B	10277	hgsc.bcm.edu	37	chr1	10218439	10218439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcataccggagccaccagTgagttttatgacaagttcac	10	10	1	2	rs2273299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:10218439T>C	ENST00000253251.8	+	21	3404	c.2565T>C	c.(2563-2565)agT>agC	p.S855S	UBE4B_ENST00000343090.6_Silent_p.S984S|UBE4B_ENST00000377157.3_Silent_p.S739S					ubiquitination factor E4B									p.S855S(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGCCACCAGTGAGTTTTATG	0.398													C|||	1832	0.365815	0.8033	0.1873	5008	,	,		19632	0.2956		0.1392	False		,,,				2504	0.2065				p.S984S		Atlas-SNP	.											UBE4B,NS,carcinoma,0,1	UBE4B	233	1	1	Substitution - coding silent(1)	stomach(1)	c.T2952C						PASS	.	C	,	2942,1464	472.0+/-356.2	996,950,257	137	140	139		2952,2565	-0.9	1	1	dbSNP_100	139	1135,7465	767.0+/-407.6	81,973,3246	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	1077,1923,3503	CC,CT,TT		13.1977,33.2274,31.3471	,	984/1303,855/1174	10218439	4077,8929	2203	4300	6503	SO:0001819	synonymous_variant	10277	exon22			CACCAGTGAGTTT	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2565T>C	1.37:g.10218439T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_001105562		Silent	SNP	ENST00000253251.8	37	CCDS110.1																																																																																			T|0.658;C|0.342	0.342	strong		0.398	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		C	10218439	T	C	10218439	2	2	22	1	0	0	0	0	0	0	0	1	16880	1693	59	2		2	UBE4B	1	10218439	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6851	10218439	239032182	83	5191										
PEX14	5195	hgsc.bcm.edu	37	chr1	10684422	10684422	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttacagacgaccctcgcCtccgtccaggagctgctgat	10	15	0	2	rs35046754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:10684422C>A	ENST00000356607.4	+	7	593	c.513C>A	c.(511-513)gcC>gcA	p.A171A	PEX14_ENST00000538836.1_Silent_p.A107A	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	171					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGACCCTCGCCTCCGTCCAGG	0.622													C|||	63	0.0125799	0.0469	0.0014	5008	,	,		15967	0.0		0.0	False		,,,				2504	0.0				p.A171A		Atlas-SNP	.											.	PEX14	40	.	0			c.C513A						PASS	.	C		209,4197	127.4+/-164.3	9,191,2003	75	76	76		513	2.9	1	1	dbSNP_126	76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PEX14	NM_004565.2		9,193,6301	AA,AC,CC		0.0233,4.7435,1.6223		171/378	10684422	211,12795	2203	4300	6503	SO:0001819	synonymous_variant	5195	exon7			CCTCGCCTCCGTC	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.513C>A	1.37:g.10684422C>A		Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	314	171	0.544586	NM_004565	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	CCDS30582.1																																																																																			C|0.986;A|0.014	0.014	strong		0.622	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			A	10684422	C	A	10684422	2	1	22	1	0	0	0	0	0	0	0	1	11742	668	24	4		4	PEX14	1	10684422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	465983	10684422	238566199	84	5192										
CASZ1	54897	hgsc.bcm.edu	37	chr1	10713765	10713765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggccagggccagggggatTgagccaggcaggccctgggg	21	10	0	1	rs284294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:10713765T>C	ENST00000377022.3	-	11	2666	c.2349A>G	c.(2347-2349)tcA>tcG	p.S783S	CASZ1_ENST00000344008.5_Silent_p.S783S|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	783					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGGGGATTGAGCCAGGCA	0.711													C|||	2730	0.545128	0.7194	0.4539	5008	,	,		16126	0.3095		0.5646	False		,,,				2504	0.5971				p.S783S		Atlas-SNP	.											CASZ1,colon,carcinoma,0,1	CASZ1	150	1	0			c.A2349G						PASS	.	C	,	2890,1470		976,938,266	25	33	30		2349,2349	3	0.9	1	dbSNP_79	30	4701,3873		1298,2105,884	no	coding-synonymous,coding-synonymous	CASZ1	NM_001079843.1,NM_017766.3	,	2274,3043,1150	CC,CT,TT		45.1714,33.7156,41.3097	,	783/1760,783/1167	10713765	7591,5343	2180	4287	6467	SO:0001819	synonymous_variant	54897	exon11			GGGGATTGAGCCA	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2349A>G	1.37:g.10713765T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_001079843	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																			T|0.453;C|0.547	0.547	strong		0.711	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		C	10713765	T	C	10713765	2	2	22	1	0	0	0	0	0	0	0	1	2685	1799	63	2		2	CASZ1	1	10713765	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29343	10713765	238536856	85	5193										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11008102	11008102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggaagaactgccaggggcGctgccagcctcaccctgggc	14	14	1	1	rs1281018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11008102G>A	ENST00000377008.4	-	11	2035	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	C1orf127_ENST00000377004.4_Missense_Mutation_p.A697V			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	530			A -> V (in dbSNP:rs1281018).							NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGCCAGGGGCGCTGCCAGCCT	0.622													G|||	442	0.0882588	0.2542	0.0245	5008	,	,		18073	0.0069		0.0447	False		,,,				2504	0.0378				p.A697V		Atlas-SNP	.											.	C1orf127	134	.	0			c.C2090T						PASS	.	G	VAL/ALA	809,3597	299.6+/-285.9	81,647,1475	36	38	37		2090	-2	0	1	dbSNP_87	37	346,8254	112.3+/-172.5	4,338,3958	yes	missense	C1orf127	NM_001170754.1	64	85,985,5433	AA,AG,GG		4.0233,18.3613,8.8805	possibly-damaging	697/824	11008102	1155,11851	2203	4300	6503	SO:0001583	missense	148345	exon12			AGGGGCGCTGCCA	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1589C>T	1.37:g.11008102G>A	ENSP00000366207:p.Ala530Val	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		165|165	0.07554945054945054|0.07554945054945054	115|115	0.23373983739837398|0.23373983739837398	8|8	0.022099447513812154|0.022099447513812154	2|2	0.0034965034965034965|0.0034965034965034965	40|40	0.052770448548812667|0.052770448548812667	G|G	7.224|7.224	0.597877|0.597877	0.13939|0.13939	0.183613|0.183613	0.040233|0.040233	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.33865|.	1.39;1.39|.	3.9|3.9	-2.05|-2.05	0.07321|0.07321	.|.	0.523531|.	0.14669|.	N|.	0.305451|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	P|P	0.0|0.0	P;P;P|.	0.42961|.	0.795;0.795;0.795|.	B;B;B|.	0.31390|.	0.129;0.129;0.081|.	T|T	0.35051|0.35051	-0.9804|-0.9804	9|4	0.18276|.	T|.	0.48|.	-0.422|-0.422	0.9467|0.9467	0.01367|0.01367	0.2137:0.3268:0.2711:0.1885|0.2137:0.3268:0.2711:0.1885	rs1281018;rs1281018|rs1281018;rs1281018	548;522;530|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	V|C	697;530|532;649	ENSP00000366203:A697V;ENSP00000366207:A530V|.	ENSP00000366203:A697V|.	A|R	-|-	2|1	0|0	C1orf127|C1orf127	10930689|10930689	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-2.362000|-2.362000	0.01082|0.01082	-0.266000|-0.266000	0.09339|0.09339	-0.474000|-0.474000	0.04947|0.04947	GCG|CGC	G|0.914;A|0.086	0.086	strong		0.622	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		A	11008102	G	A	11008102	3	1	22	1	0	0	0	0	1	0	0	0	1994	1087	38	1	385	1	C1orf127	1	11008102	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	294337	11008102	238242519	86	5194										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11008341	11008341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccacctccgttccagaGcacgtttcctggggctctcc	8	18	2	1	rs10864483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11008341G>A	ENST00000377008.4	-	11	1796	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	C1orf127_ENST00000377004.4_Silent_p.C617C			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	450										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCGTTCCAGAGCACGTTTCCT	0.657													G|||	890	0.177716	0.3699	0.1254	5008	,	,		16984	0.2093		0.0557	False		,,,				2504	0.0481				p.C617C		Atlas-SNP	.											.	C1orf127	134	.	0			c.C1851T						PASS	.	G		1463,2943	459.2+/-352.2	244,975,984	59	68	65		1851	-0.2	0	1	dbSNP_120	65	364,8236	120.1+/-179.3	7,350,3943	no	coding-synonymous	C1orf127	NM_001170754.1		251,1325,4927	AA,AG,GG		4.2326,33.2047,14.0474		617/824	11008341	1827,11179	2203	4300	6503	SO:0001819	synonymous_variant	148345	exon12			TCCAGAGCACGTT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1350C>T	1.37:g.11008341G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	84	45	0.535714	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		381	0.17445054945054944	180	0.36585365853658536	41	0.1132596685082873	115	0.20104895104895104	45	0.059366754617414245	G	3.870	-0.028045	0.07589	0.332047	0.042326	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-0.204	0.13200	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44375	-0.9332	3	.	.	.	-0.1999	1.0939	0.01669	0.2064:0.1773:0.4339:0.1824	rs10864483;rs10864483	.	.	.	V	452;569	.	.	A	-	2	0	C1orf127	10930928	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.046000	0.11983	-0.020000	0.14032	0.491000	0.48974	GCT	G|0.844;A|0.156	0.156	strong		0.657	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		A	11008341	G	A	11008341	2	1	22	1	0	0	0	0	0	0	0	1	1994	963	34	2		2	C1orf127	1	11008341	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	239	11008341	238242280	87	5195										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11008497	11008497	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacatccccgcttgacaaGcctctcagcaggaggggact	11	15	1	1	rs1281017	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11008497G>C	ENST00000377008.4	-	11	1640	c.1194C>G	c.(1192-1194)ggC>ggG	p.G398G	C1orf127_ENST00000377004.4_Silent_p.G565G			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	398										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CGCTTGACAAGCCTCTCAGCA	0.632													C|||	1627	0.32488	0.4009	0.2867	5008	,	,		17686	0.2371		0.1849	False		,,,				2504	0.4836				p.G565G		Atlas-SNP	.											.	C1orf127	134	.	0			c.C1695G						PASS	.	C		1487,2919	659.8+/-400.6	267,953,983	31	33	32		1695	-5.1	0	1	dbSNP_87	32	1519,7081	730.0+/-406.7	142,1235,2923	no	coding-synonymous	C1orf127	NM_001170754.1		409,2188,3906	CC,CG,GG		17.6628,33.7494,23.1124		565/824	11008497	3006,10000	2203	4300	6503	SO:0001819	synonymous_variant	148345	exon12			TGACAAGCCTCTC	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1194C>G	1.37:g.11008497G>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	158	80	0.506329	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		599	0.2742673992673993	206	0.4186991869918699	98	0.27071823204419887	142	0.24825174825174826	153	0.20184696569920843	C	3.508	-0.100345	0.06967	0.337494	0.176628	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	4.61	-5.09	0.02920	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.42749	-0.9433	3	.	.	.	0.0012	4.3862	0.11318	0.1211:0.1502:0.1199:0.6088	rs1281017	.	.	.	G	400;517	.	.	A	-	2	0	C1orf127	10931084	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.893000	0.04127	-1.335000	0.02241	-1.145000	0.01858	GCT	G|0.745;C|0.255	0.255	strong		0.632	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		C	11008497	G	C	11008497	2	2	22	1	0	0	0	0	0	0	0	1	1994	958	34	4		4	C1orf127	1	11008497	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	156	11008497	238242124	88	5196										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11008594	11008594	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgacagatggtcctgagAccagaagtgattcaggtcgt	15	7	1	5	rs1281016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11008594A>T	ENST00000377008.4	-	11	1543	c.1097T>A	c.(1096-1098)gTc>gAc	p.V366D	C1orf127_ENST00000377004.4_Missense_Mutation_p.V533D			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	366			V -> D (in dbSNP:rs1281016).							NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGTCCTGAGACCAGAAGTGA	0.612													A|||	346	0.0690895	0.2035	0.0144	5008	,	,		19200	0.004		0.0427	False		,,,				2504	0.0204				p.V533D		Atlas-SNP	.											.	C1orf127	134	.	0			c.T1598A						PASS	.	A	ASP/VAL	735,3671	303.5+/-288.0	65,605,1533	56	53	54		1598	0.5	0	1	dbSNP_87	54	343,8257	116.3+/-176.0	4,335,3961	yes	missense	C1orf127	NM_001170754.1	152	69,940,5494	TT,TA,AA		3.9884,16.6818,8.2885	probably-damaging	533/824	11008594	1078,11928	2203	4300	6503	SO:0001583	missense	148345	exon12			CCTGAGACCAGAA	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1097T>A	1.37:g.11008594A>T	ENSP00000366207:p.Val366Asp	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	179	86	0.480447	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		167|167	0.07646520146520147|0.07646520146520147	123|123	0.25|0.25	4|4	0.011049723756906077|0.011049723756906077	1|1	0.0017482517482517483|0.0017482517482517483	39|39	0.051451187335092345|0.051451187335092345	A|A	13.05|13.05	2.122259|2.122259	0.37436|0.37436	0.166818|0.166818	0.039884|0.039884	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.26518	.|1.73;1.73	4.15|4.15	0.48|0.48	0.16804|0.16804	.|.	.|0.956786	.|0.08574	.|N	.|0.925628	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	P|P	0.0|0.0	.|P;P;P	.|0.46512	.|0.879;0.879;0.879	.|B;B;B	.|0.42163	.|0.378;0.378;0.378	T|T	0.19484|0.19484	-1.0304|-1.0304	4|9	.|0.15952	.|T	.|0.53	-5.9143|-5.9143	0.8883|0.8883	0.01249|0.01249	0.3866:0.3152:0.136:0.1622|0.3866:0.3152:0.136:0.1622	rs1281016;rs52819154;rs1281016|rs1281016;rs52819154;rs1281016	.|384;358;366	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	T|D	368;485|533;366	.|ENSP00000366203:V533D;ENSP00000366207:V366D	.|ENSP00000366203:V533D	S|V	-|-	1|2	0|0	C1orf127|C1orf127	10931181|10931181	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.057000|0.057000	0.15508|0.15508	-0.110000|-0.110000	0.10824|0.10824	0.317000|0.317000	0.23160|0.23160	0.402000|0.402000	0.26972|0.26972	TCT|GTC	A|0.922;T|0.078	0.078	strong		0.612	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		T	11008594	A	T	11008594	3	4	22	1	0	0	0	0	1	0	0	0	1994	275	10	5	877	5	C1orf127	1	11008594	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	97	11008594	238242027	89	5197										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11009679	11009679	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgcagccatagacgtGctttggccagtgcgtcggaa	15	9	0	1	rs1281013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11009679G>A	ENST00000377008.4	-	10	1236		c.e10+1		C1orf127_ENST00000377004.4_Splice_Site			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCATAGACGTGCTTTGGCCAG	0.612													G|||	346	0.0690895	0.2035	0.0144	5008	,	,		17717	0.004		0.0427	False		,,,				2504	0.0204				.		Atlas-SNP	.											.	C1orf127	134	.	0			c.1290+2C>T						PASS	.	G		719,3679		64,591,1544	34	29	31			-0.6	0	1	dbSNP_87	31	331,8269		4,323,3973	yes	splice-5	C1orf127	NM_001170754.1		68,914,5517	AA,AG,GG		3.8488,16.3483,8.0782			11009679	1050,11948	2199	4300	6499	SO:0001630	splice_region_variant	148345	exon12			AGACGTGCTTTGG	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.789+1C>T	1.37:g.11009679G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	100	51	0.51	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Splice_Site	SNP	ENST00000377008.4	37		166	0.076007326007326	122	0.24796747967479674	4	0.011049723756906077	1	0.0017482517482517483	39	0.051451187335092345	G	2.596	-0.293985	0.05568	0.163483	0.038488	ENSG00000175262	ENST00000418570;ENST00000377004;ENST00000377008	.	.	.	3.68	-0.578	0.11724	.	.	.	.	.	.	.	.	.	.	.	0.51012	P	9.899999999996023E-5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2328	0.01946	0.2149:0.1807:0.4347:0.1697	rs1281013;rs1281013	.	.	.	.	-1	.	.	.	-	.	.	C1orf127	10932266	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.247000	0.09597	-0.354000	0.07668	.	G|0.907;A|0.093	0.093	strong		0.612	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	Intron	A	11009679	G	A	11009679	5	1	22	1	0	0	0	0	0	0	1	0	1994	1333	46	2	1187	2	C1orf127	1	11009679	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1085	11009679	238240942	90	5198										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11009703	11009703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccagtgcgtcggaaggcCggtgcaggaggtcccgagaa	18	10	0	1	rs1281012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11009703C>T	ENST00000377008.4	-	10	1213	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	C1orf127_ENST00000377004.4_Missense_Mutation_p.R423Q			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	256	Pro-rich.		R -> Q (in dbSNP:rs1281012).							NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCGGAAGGCCGGTGCAGGAG	0.622													C|||	347	0.0692891	0.2042	0.0144	5008	,	,		17273	0.004		0.0427	False		,,,				2504	0.0204				p.R423Q		Atlas-SNP	.											.	C1orf127	134	.	0			c.G1268A						PASS	.	C	GLN/ARG	725,3675		66,593,1541	40	34	36		1268	-6.4	0	1	dbSNP_87	36	333,8267		4,325,3971	yes	missense	C1orf127	NM_001170754.1	43	70,918,5512	TT,TC,CC		3.8721,16.4773,8.1385	benign	423/824	11009703	1058,11942	2200	4300	6500	SO:0001583	missense	148345	exon11			GAAGGCCGGTGCA	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.767G>A	1.37:g.11009703C>T	ENSP00000366207:p.Arg256Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		167|167	0.07646520146520147|0.07646520146520147	123|123	0.25|0.25	4|4	0.011049723756906077|0.011049723756906077	1|1	0.0017482517482517483|0.0017482517482517483	39|39	0.051451187335092345|0.051451187335092345	C|C	1.843|1.843	-0.467033|-0.467033	0.04476|0.04476	0.164773|0.164773	0.038721|0.038721	ENSG00000175262|ENSG00000175262	ENST00000418570|ENST00000377004;ENST00000377008	.|T;T	.|0.29142	.|1.58;1.58	3.98|3.98	-6.39|-6.39	0.01951|0.01951	.|.	.|6.202500	.|0.00166	.|N	.|0.000011	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.18999|0.18999	-1.0319|-1.0319	4|9	.|0.23891	.|T	.|0.37	.|.	2.3424|2.3424	0.04263|0.04263	0.1182:0.3558:0.1181:0.4079|0.1182:0.3558:0.1181:0.4079	rs1281012;rs1281012|rs1281012;rs1281012	.|274;256	.|B7ZLG7;Q8N9H9	.|.;CA127_HUMAN	S|Q	258|423;256	.|ENSP00000366203:R423Q;ENSP00000366207:R256Q	.|ENSP00000366203:R423Q	G|R	-|-	1|2	0|0	C1orf127|C1orf127	10932290|10932290	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.451000|-1.451000	0.02387|0.02387	-1.615000|-1.615000	0.01573|0.01573	-1.314000|-1.314000	0.01303|0.01303	GGC|CGG	C|0.907;T|0.093	0.093	strong		0.622	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		T	11009703	C	T	11009703	3	4	22	1	0	0	0	0	1	0	0	0	1994	652	23	1	1211	1	C1orf127	1	11009703	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24	11009703	238240918	91	5199										
MASP2	10747	hgsc.bcm.edu	37	chr1	11087687	11087687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatacgccctcctgttgtgCgggctgatagtccacaaact	9	12	0	1	rs12085877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11087687C>T	ENST00000400897.3	-	11	1331	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	439			R -> H (in dbSNP:rs12085877).		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCCTGTTGTGCGGGCTGATAG	0.443													C|||	144	0.028754	0.1036	0.0101	5008	,	,		19654	0.0		0.0	False		,,,				2504	0.0				p.R439H	GBM(35;611 746 20780 22741 36496)	Atlas-SNP	.											MASP2,NS,carcinoma,-1,1	MASP2	71	1	0			c.G1316A						PASS	.	C	HIS/ARG	413,3987		16,381,1803	59	62	61		1316	-0.5	0	1	dbSNP_120	61	3,8595		0,3,4296	yes	missense	MASP2	NM_006610.3	29	16,384,6099	TT,TC,CC		0.0349,9.3864,3.2005	benign	439/687	11087687	416,12582	2200	4299	6499	SO:0001583	missense	10747	exon11			GTTGTGCGGGCTG	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1316G>A	1.37:g.11087687C>T	ENSP00000383690:p.Arg439His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	100	44	0.44	NM_006610	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	54	0.024725274725274724	50	0.1016260162601626	4	0.011049723756906077	0	0.0	0	0.0	C	11.07	1.530812	0.27387	0.093864	3.49E-4	ENSG00000009724	ENST00000400897	D	0.92858	-3.12	5.45	-0.488	0.12056	Peptidase cysteine/serine, trypsin-like (1);Complement control module (1);	0.541857	0.18692	N	0.133825	T	0.12050	0.0293	L	0.28400	0.85	0.21802	N	0.99953	B	0.11235	0.004	B	0.06405	0.002	T	0.50363	-0.8837	10	0.35671	T	0.21	.	0.5192	0.00609	0.2067:0.2927:0.1873:0.3133	rs12085877;rs52829987;rs12085877	439	O00187	MASP2_HUMAN	H	439	ENSP00000383690:R439H	ENSP00000383690:R439H	R	-	2	0	MASP2	11010274	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	-0.560000	0.05964	0.002000	0.14630	0.563000	0.77884	CGC	C|0.971;T|0.029	0.029	strong		0.443	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		T	11087687	C	T	11087687	3	4	22	1	0	0	0	0	1	0	0	0	9323	768	27	1	748	1	MASP2	1	11087687	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77984	11087687	238162934	92	5200										
MASP2	10747	hgsc.bcm.edu	37	chr1	11106648	11106648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctcgaaccccgtgaacGgcttctcgttggagtagtcg	13	12	1	1	rs56392418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11106648G>A	ENST00000400897.3	-	3	392	c.377C>T	c.(376-378)cCg>cTg	p.P126L	MASP2_ENST00000400898.3_Missense_Mutation_p.P126L	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		P -> L (in MASPD; dbSNP:rs56392418). {ECO:0000269|PubMed:16029433, ECO:0000269|PubMed:17252003}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCCCGTGAACGGCTTCTCGTT	0.607													G|||	181	0.0361422	0.1316	0.0101	5008	,	,		19642	0.0		0.0	False		,,,				2504	0.0				p.P126L	GBM(35;611 746 20780 22741 36496)	Atlas-SNP	.											.	MASP2	71	.	0			c.C377T	GRCh37	CM073192	MASP2	M	rs56392418	PASS	.	G	LEU/PRO,LEU/PRO	505,3901	231.7+/-245.5	22,461,1720	52	45	47		377,377	2.8	1	1	dbSNP_129	47	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MASP2	NM_006610.3,NM_139208.2	98,98	22,463,6018	AA,AG,GG		0.0233,11.4616,3.8982	possibly-damaging,possibly-damaging	126/687,126/186	11106648	507,12499	2203	4300	6503	SO:0001583	missense	10747	exon3			GTGAACGGCTTCT	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.377C>T	1.37:g.11106648G>A	ENSP00000383690:p.Pro126Leu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	130	50	0.384615	NM_139208	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	70	0.03205128205128205	66	0.13414634146341464	4	0.011049723756906077	0	0.0	0	0.0	G	17.33	3.361797	0.61403	0.114616	2.33E-4	ENSG00000009724	ENST00000400897;ENST00000400898	T;T	0.26660	1.72;1.72	4.87	2.75	0.32379	CUB (5);	0.752220	0.12578	N	0.456686	T	0.00178	0.0005	L	0.33485	1.01	0.49051	D	0.999741	B;P	0.36183	0.179;0.542	B;B	0.33196	0.016;0.159	T	0.18461	-1.0336	10	0.66056	D	0.02	.	7.2086	0.25921	0.0979:0.0:0.6342:0.2678	rs56392418;rs61747086	126;126	O00187-2;O00187	.;MASP2_HUMAN	L	126	ENSP00000383690:P126L;ENSP00000383691:P126L	ENSP00000383690:P126L	P	-	2	0	MASP2	11029235	0.099000	0.21834	0.984000	0.44739	0.939000	0.58152	0.769000	0.26604	1.046000	0.40249	-0.251000	0.11542	CCG	G|0.964;A|0.036	0.036	strong		0.607	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		A	11106648	G	A	11106648	3	1	22	1	0	0	0	0	1	0	0	0	9323	1116	39	1	1737	1	MASP2	1	11106648	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18961	11106648	238143973	93	5201										
SRM	6723	hgsc.bcm.edu	37	chr1	11114940	11114940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagctcacatcattcagGgcctggagggacatgaggcc	13	12	4	1	rs13616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11114940G>T	ENST00000376957.2	-	8	971	c.891C>A	c.(889-891)gcC>gcA	p.A297A		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	297					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CATCATTCAGGGCCTGGAGGG	0.716													G|||	840	0.167732	0.2481	0.1167	5008	,	,		10717	0.1806		0.0249	False		,,,				2504	0.229				p.A297A		Atlas-SNP	.											SRM,NS,carcinoma,0,1	SRM	18	1	0			c.C891A						PASS	.	G		913,3493	335.5+/-303.9	104,705,1394	32	35	34		891	2.2	1	1	dbSNP_52	34	195,8405	84.5+/-147.0	3,189,4108	no	coding-synonymous	SRM	NM_003132.2		107,894,5502	TT,TG,GG		2.2674,20.7217,8.5191		297/303	11114940	1108,11898	2203	4300	6503	SO:0001819	synonymous_variant	6723	exon8			ATTCAGGGCCTGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.891C>A	1.37:g.11114940G>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	186	96	0.516129	NM_003132	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			G|0.906;T|0.094	0.094	strong		0.716	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		T	11114940	G	T	11114940	2	4	22	1	0	0	0	0	0	0	0	1	15150	1219	43	4		4	SRM	1	11114940	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8292	11114940	238135681	94	5202										
MTOR	2475	hgsc.bcm.edu	37	chr1	11181327	11181327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctggggcttttcagccaCagcagcttggccaggtcgtc	14	12	1	0	rs11121691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11181327C>T	ENST00000361445.4	-	49	6985	c.6909G>A	c.(6907-6909)ctG>ctA	p.L2303L	MTOR_ENST00000376838.1_Silent_p.L508L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2303	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTTCAGCCACAGCAGCTTGG	0.587													C|||	1105	0.220647	0.4365	0.1542	5008	,	,		17412	0.0565		0.2356	False		,,,				2504	0.1299				p.L2303L		Atlas-SNP	.											.	MTOR	327	.	0			c.G6909A						PASS	.	C		1875,2531	541.3+/-375.7	383,1109,711	80	68	72		6909	3.9	1	1	dbSNP_120	72	2054,6546	356.9+/-330.5	249,1556,2495	no	coding-synonymous	MTOR	NM_004958.3		632,2665,3206	TT,TC,CC		23.8837,42.5556,30.2091		2303/2550	11181327	3929,9077	2203	4300	6503	SO:0001819	synonymous_variant	2475	exon49			CAGCCACAGCAGC	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6909G>A	1.37:g.11181327C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	101	40	0.39604	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																			C|0.721;T|0.279	0.279	strong		0.587	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11181327	C	T	11181327	2	4	22	1	0	0	0	0	0	0	0	1	9954	465	17	2		2	MTOR	1	11181327	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66387	11181327	238069294	95	5203										
MTOR	2475	hgsc.bcm.edu	37	chr1	11190646	11190646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcggtgctctcggcctcGctctcactgttgctgccctc	9	17	3	0	rs2275527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11190646G>A	ENST00000361445.4	-	39	5629	c.5553C>T	c.(5551-5553)agC>agT	p.S1851S	MTOR_ENST00000376838.1_Silent_p.S56S|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1851	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCTCGGCCTCGCTCTCACTGT	0.627													G|||	1145	0.228634	0.4486	0.1542	5008	,	,		17004	0.0794		0.2356	False		,,,				2504	0.1309				p.S1851S		Atlas-SNP	.											.	MTOR	327	.	0			c.C5553T						PASS	.	G		1927,2479	549.0+/-377.7	407,1113,683	107	88	95		5553	-5.7	0.9	1	dbSNP_100	95	2052,6548	356.5+/-330.3	249,1554,2497	no	coding-synonymous	MTOR	NM_004958.3		656,2667,3180	AA,AG,GG		23.8605,43.7358,30.5936		1851/2550	11190646	3979,9027	2203	4300	6503	SO:0001819	synonymous_variant	2475	exon39			GGCCTCGCTCTCA	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5553C>T	1.37:g.11190646G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	171	84	0.491228	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																			G|0.716;A|0.284	0.284	strong		0.627	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11190646	G	A	11190646	2	1	22	1	0	0	0	0	0	0	0	1	9954	1078	38	1		1	MTOR	1	11190646	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9319	11190646	238059975	96	5204										
PTCHD2	57540	hgsc.bcm.edu	37	chr1	11561164	11561164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagccagggccccaacctGgggcagggggacagtgttgc	17	11	0	1	rs41274528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11561164G>A	ENST00000294484.6	+	2	253	c.115G>A	c.(115-117)Ggg>Agg	p.G39R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G39R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	39			G -> R (in dbSNP:rs41274528).		cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCAACCTGGGGCAGGGGG	0.642													G|||	915	0.182708	0.407	0.0764	5008	,	,		16504	0.0476		0.0577	False		,,,				2504	0.2229				p.G39R		Atlas-SNP	.											.	PTCHD2	193	.	0			c.G115A						PASS	.	G	ARG/GLY	1260,2476		219,822,827	40	46	44		115	4.8	0.1	1	dbSNP_127	44	543,7639		19,505,3567	yes	missense	PTCHD2	NM_020780.1	125	238,1327,4394	AA,AG,GG		6.6365,33.7259,15.1284	benign	39/1393	11561164	1803,10115	1868	4091	5959	SO:0001583	missense	57540	exon2			CAACCTGGGGCAG	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.115G>A	1.37:g.11561164G>A	ENSP00000294484:p.Gly39Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	136	67	0.492647	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	288	0.13186813186813187	189	0.38414634146341464	34	0.09392265193370165	19	0.033216783216783216	46	0.06068601583113457	G	0.229	-1.022663	0.02061	0.337259	0.066365	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.22336	1.96;1.96	5.78	4.85	0.62838	.	2.107450	0.02625	U	0.103649	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.40794	-0.9544	9	0.32370	T	0.25	-3.5197	14.1249	0.65213	0.0:0.1499:0.8501:0.0	rs41274528;rs61744903	39	Q9P2K9	PTHD2_HUMAN	R	39	ENSP00000294484:G39R;ENSP00000374226:G39R	ENSP00000294484:G39R	G	+	1	0	PTCHD2	11483751	0.843000	0.29541	0.105000	0.21289	0.006000	0.05464	1.320000	0.33666	1.402000	0.46780	0.563000	0.77884	GGG	G|0.885;A|0.115	0.115	strong		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11561164	G	A	11561164	3	1	22	1	0	0	0	0	1	0	0	0	12733	1348	47	2	117	2	PTCHD2	1	11561164	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	370518	11561164	237689457	97	5205										
FBXO44	93611	hgsc.bcm.edu	37	chr1	11721321	11721321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatcaccatcgggcccccGctgccctgacaccccctgag	9	20	1	2	rs12057383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11721321G>A	ENST00000251547.5	+	6	841	c.759G>A	c.(757-759)ccG>ccA	p.P253P	FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000251546.4_Missense_Mutation_p.A212T|FBXO44_ENST00000376768.1_Missense_Mutation_p.A244T|FBXO44_ENST00000376762.4_Missense_Mutation_p.A212T|FBXO44_ENST00000376770.1_Silent_p.P253P|FBXO44_ENST00000376760.1_Missense_Mutation_p.A212T	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	253						SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGCCCCCGCTGCCCTGAC	0.637													G|||	406	0.0810703	0.2784	0.0187	5008	,	,		15749	0.002		0.007	False		,,,				2504	0.0164				p.A212T		Atlas-SNP	.											.	FBXO44	20	.	0			c.G634A						PASS	.	G	,,THR/ALA,THR/ALA	1089,3317	394.7+/-329.4	130,829,1244	66	70	69		759,759,634,634	-4.8	0.9	1	dbSNP_120	69	33,8567	22.8+/-68.1	0,33,4267	yes	coding-synonymous,coding-synonymous,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	,,58,58	130,862,5511	AA,AG,GG		0.3837,24.7163,8.6268	,,,	253/256,253/256,212/225,212/225	11721321	1122,11884	2203	4300	6503	SO:0001819	synonymous_variant	93611	exon5			GCCCCCGCTGCCC	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.759G>A	1.37:g.11721321G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	141	66	0.468085	NM_183412	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	CCDS132.1	145	0.06639194139194139	135	0.27439024390243905	4	0.011049723756906077	0	0.0	6	0.0079155672823219	G	11.75	1.732499	0.30684	0.247163	0.003837	ENSG00000132879	ENST00000251546;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T	0.38401	1.2;1.14;1.2;1.2	4.82	-4.76	0.03229	.	0.998809	0.08102	N	0.997570	T	0.00012	0.0000	.	.	.	0.23696	P	0.9970848	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.31251	-0.9950	8	0.62326	D	0.03	-13.878	10.7614	0.46266	0.1572:0.1065:0.7363:0.0	rs12057383;rs56815691	244;212	B7Z1P2;Q9H4M3-2	.;.	T	212;244;212;212	ENSP00000251546:A212T;ENSP00000365959:A244T;ENSP00000365953:A212T;ENSP00000365951:A212T	ENSP00000251546:A212T	A	+	1	0	FBXO44	11643908	0.000000	0.05858	0.924000	0.36721	0.260000	0.26232	-0.672000	0.05244	-1.124000	0.02936	-0.258000	0.10820	GCT	G|0.924;A|0.076	0.076	strong		0.637	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		A	11721321	G	A	11721321	2	1	22	1	0	0	0	0	0	0	0	1	5753	1087	38	1		1	FBXO44	1	11721321	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160157	11721321	237529300	98	5206										
CLCN6	1185	hgsc.bcm.edu	37	chr1	11876692	11876692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggtcgaagatatgaggcGgtgaagtggatggtggtgtt	18	2	0	3	rs57044879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11876692G>A	ENST00000346436.6	+	4	286	c.234G>A	c.(232-234)gcG>gcA	p.A78A	CLCN6_ENST00000376496.3_Silent_p.A78A|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376497.3_Silent_p.A78A|CLCN6_ENST00000312413.6_Silent_p.A78A|CLCN6_ENST00000376487.3_Silent_p.A56A	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	78					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GATATGAGGCGGTGAAGTGGA	0.532													G|||	135	0.0269569	0.0938	0.0058	5008	,	,		19754	0.004		0.001	False		,,,				2504	0.002				p.A78A		Atlas-SNP	.											.	CLCN6	77	.	0			c.G234A						PASS	.	G	,,,	483,3923	220.7+/-238.1	24,435,1744	134	103	114		234,234,234,234	1.6	1	1	dbSNP_129	114	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLCN6	NM_001286.2,NM_021735.2,NM_021736.2,NM_021737.2	,,,	24,443,6036	AA,AG,GG		0.093,10.9623,3.7752	,,,	78/870,78/321,78/354,78/309	11876692	491,12515	2203	4300	6503	SO:0001819	synonymous_variant	1185	exon4			TGAGGCGGTGAAG	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.234G>A	1.37:g.11876692G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	192	111	0.578125	NM_001286	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	CCDS138.1																																																																																			G|0.971;A|0.029	0.029	strong		0.532	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11876692	G	A	11876692	2	1	22	1	0	0	0	0	0	0	0	1	3467	1103	39	1		1	CLCN6	1	11876692	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155371	11876692	237373929	99	5207										
CLCN6	1185	hgsc.bcm.edu	37	chr1	11884586	11884586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgatccacagtggttcGgtggtgggagctggcctccc	14	13	0	1	rs60602304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11884586G>A	ENST00000346436.6	+	8	676	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CLCN6_ENST00000376496.3_Silent_p.S208S|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Silent_p.S208S|CLCN6_ENST00000376487.3_Silent_p.S186S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	208					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGTTCGGTGGTGGGAG	0.597													G|||	115	0.0229633	0.0794	0.0043	5008	,	,		18300	0.004		0.001	False		,,,				2504	0.002				p.S208S		Atlas-SNP	.											.	CLCN6	77	.	0			c.G624A						PASS	.	G	,,,	421,3985	204.8+/-226.9	19,383,1801	75	68	71		624,624,624,624	-11.6	0.1	1	dbSNP_129	71	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLCN6	NM_001286.2,NM_021735.2,NM_021736.2,NM_021737.2	,,,	19,391,6093	AA,AG,GG		0.093,9.5552,3.2985	,,,	208/870,208/321,208/354,208/309	11884586	429,12577	2203	4300	6503	SO:0001819	synonymous_variant	1185	exon8			TGGTTCGGTGGTG	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.624G>A	1.37:g.11884586G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	99	53	0.535354	NM_001286	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	CCDS138.1																																																																																			G|0.970;A|0.030	0.030	strong		0.597	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11884586	G	A	11884586	2	1	22	1	0	0	0	0	0	0	0	1	3467	1103	39	1		1	CLCN6	1	11884586	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7894	11884586	237366035	100	5208										
NPPA	1185	hgsc.bcm.edu	37	chr1	11906068	11906068	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccctggctgttatcttcAgtactgcaaagagaacacag	8	12	2	1	rs5065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:11906068A>G	ENST00000346436.6	+	0	5583				NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA_ENST00000376480.3_Nonstop_Mutation_p.*152R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTATCTTCAGTACTGCAAA	0.517													G|||	897	0.179113	0.4183	0.1138	5008	,	,		18871	0.0129		0.1233	False		,,,				2504	0.1309				p.X152R		Atlas-SNP	.											.	NPPA	14	.	0			c.T454C	GRCh37	CM040788	NPPA	M	rs5065	PASS	.	G	ARG/stop	1800,2606	641.4+/-397.5	380,1040,783	151	136	141		454	0.9	1	1	dbSNP_52	141	1335,7265	756.5+/-407.5	97,1141,3062	yes	stop-lost	NPPA	NM_006172.3		477,2181,3845	GG,GA,AA		15.5233,40.8534,24.1043		152/152	11906068	3135,9871	2203	4300	6503	SO:0001628	intergenic_variant	4878	exon3			ATCTTCAGTACTG	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299		1.37:g.11906068A>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	140	71	0.507143	NM_006172	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	304	0.1391941391941392	174	0.35365853658536583	41	0.1132596685082873	4	0.006993006993006993	85	0.11213720316622691	G	5.706	0.314728	0.10789	0.408534	0.155233	ENSG00000175206	ENST00000376480;ENST00000376476	.	.	.	5.47	0.954	0.19595	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1248	0.03735	0.2569:0.1343:0.4715:0.1373	rs5065;rs198363;rs1130764;rs3189984;rs17413194;rs17856153;rs57081035;rs5065	.	.	.	R	152;102	.	.	X	-	1	0	NPPA	11828655	0.997000	0.39634	0.976000	0.42696	0.154000	0.21943	0.306000	0.19279	0.041000	0.15688	-0.128000	0.14901	TGA	A|0.796;G|0.204	0.204	strong		0.517	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		G	11906068	A	G	11906068	1	3	22	0	1	0	0	0	0	0	0	0	10591	201	7	3		3	NPPA	1	11906068	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21482	11906068	237344553	101	5209										
PLOD1	5351	hgsc.bcm.edu	37	chr1	12024235	12024235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctcccttccctcaggaaCgtcattgccccgctgatgac	9	16	2	2	rs1130529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12024235C>T	ENST00000196061.4	+	12	1233	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	PLOD1_ENST00000376369.3_Silent_p.N449N	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	402					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTCAGGAACGTCATTGCCC	0.622													C|||	1745	0.348442	0.2693	0.3545	5008	,	,		15315	0.3839		0.3151	False		,,,				2504	0.4489				p.N402N		Atlas-SNP	.											.	PLOD1	75	.	0			c.C1206T						PASS	.	C		1281,3125	435.9+/-344.5	182,917,1104	150	144	146		1206	-5.4	1	1	dbSNP_86	146	2761,5839	439.9+/-359.4	458,1845,1997	no	coding-synonymous	PLOD1	NM_000302.3		640,2762,3101	TT,TC,CC		32.1047,29.074,31.078		402/728	12024235	4042,8964	2203	4300	6503	SO:0001819	synonymous_variant	5351	exon12			CAGGAACGTCATT	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1206C>T	1.37:g.12024235C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_000302	B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	CCDS142.1																																																																																			C|0.687;N|0.001	.	strong		0.622	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		T	12024235	C	T	12024235	2	4	22	1	0	0	0	0	0	0	0	1	12101	535	19	1		1	PLOD1	1	12024235	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118167	12024235	237226386	102	5210										
MIIP	60672	hgsc.bcm.edu	37	chr1	12082334	12082334	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctctctcccacctgccaaAtgccagcaccaggagtccct	7	19	1	0	rs11553925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12082334A>T	ENST00000235332.4	+	3	466	c.297A>T	c.(295-297)aaA>aaT	p.K99N	MIIP_ENST00000466860.1_3'UTR|Y_RNA_ENST00000365591.1_RNA|MIIP_ENST00000436478.2_Missense_Mutation_p.K99N	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	99			K -> N (in dbSNP:rs11553925). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15867349}.							autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CACCTGCCAAATGCCAGCACC	0.701													A|||	812	0.162141	0.1762	0.1398	5008	,	,		18127	0.0685		0.2515	False		,,,				2504	0.1636				p.K99N		Atlas-SNP	.											MIIP,brain,glioma,0,1	MIIP	34	1	0			c.A297T						PASS	.	A	ASN/LYS	744,3662	280.2+/-275.2	61,622,1520	45	49	48		297	-1.2	0	1	dbSNP_120	48	2149,6443	336.4+/-321.9	276,1597,2423	yes	missense	MIIP	NM_021933.3	94	337,2219,3943	TT,TA,AA		25.0116,16.8861,22.2573	possibly-damaging	99/389	12082334	2893,10105	2203	4296	6499	SO:0001583	missense	60672	exon3			TGCCAAATGCCAG	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"invasion inhibitory protein 45"	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.297A>T	1.37:g.12082334A>T	ENSP00000235332:p.Lys99Asn	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	139	70	0.503597	NM_021933	C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	CCDS143.1	346	0.15842490842490842	81	0.16463414634146342	51	0.1408839779005525	21	0.03671328671328671	193	0.2546174142480211	A	20.4	3.982609	0.74474	0.168861	0.250116	ENSG00000116691	ENST00000235332;ENST00000436478	T;T	0.21543	2.0;2.0	4.49	-1.21	0.09524	.	1.829550	0.02773	N	0.119944	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	P	0.52316	0.952	P	0.51701	0.677	T	0.13469	-1.0508	9	0.41790	T	0.15	-0.001	8.0747	0.30710	0.4922:0.0:0.5077:0.0	rs11553925;rs17856239;rs61368770	99	Q5JXC2	MIIP_HUMAN	N	99	ENSP00000235332:K99N;ENSP00000392417:K99N	ENSP00000235332:K99N	K	+	3	2	MIIP	12004921	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-0.465000	0.06680	-0.287000	0.09064	-0.285000	0.09966	AAA	A|0.799;T|0.201	0.201	strong		0.701	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		T	12082334	A	T	12082334	3	4	22	1	0	0	0	0	1	0	0	0	9585	98	4	5	303	5	MIIP	1	12082334	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	58099	12082334	237168287	103	5211										
TNFRSF8	943	hgsc.bcm.edu	37	chr1	12186058	12186058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttgtggtggtcggctccAgcgccttcctcctgtgccac	13	14	0	0	rs2230625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12186058A>G	ENST00000263932.2	+	11	1426	c.1204A>G	c.(1204-1206)Agc>Ggc	p.S402G	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S291G	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	402			S -> G (in dbSNP:rs2230625). {ECO:0000269|Ref.5}.		cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGTCGGCTCCAGCGCCTTCCT	0.612													A|||	454	0.090655	0.177	0.036	5008	,	,		16773	0.129		0.0209	False		,,,				2504	0.045				p.S402G		Atlas-SNP	.											TNFRSF8,NS,carcinoma,-2,1	TNFRSF8	70	1	0			c.A1204G						PASS	.	A	GLY/SER,	745,3661	306.9+/-289.7	60,625,1518	194	168	177		1204,	-7.8	0	1	dbSNP_98	177	166,8434	76.6+/-139.3	1,164,4135	yes	missense,utr-5	TNFRSF8	NM_001243.3,NM_152942.2	56,	61,789,5653	GG,GA,AA		1.9302,16.9088,7.0045	benign,	402/596,	12186058	911,12095	2203	4300	6503	SO:0001583	missense	943	exon11			GGCTCCAGCGCCT	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1204A>G	1.37:g.12186058A>G	ENSP00000263932:p.Ser402Gly	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	331	167	0.504532	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	171	0.0782967032967033	83	0.16869918699186992	12	0.03314917127071823	63	0.11013986013986014	13	0.017150395778364115	A	4.408	0.075392	0.08485	0.169088	0.019302	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.07908	3.15;3.15	3.87	-7.75	0.01236	.	6.146930	0.00166	N	0.000012	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34304	-0.9834	9	0.14252	T	0.57	-0.1276	8.9345	0.35691	0.2079:0.0:0.6671:0.125	rs2230625;rs2297728;rs11569913;rs57411254;rs11569913	291;402	D3YTD8;P28908	.;TNR8_HUMAN	G	402;291	ENSP00000263932:S402G;ENSP00000390650:S291G	ENSP00000263932:S402G	S	+	1	0	TNFRSF8	12108645	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-2.703000	0.00822	-1.694000	0.01425	0.533000	0.62120	AGC	A|0.922;G|0.078	0.078	strong		0.612	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			G	12186058	A	G	12186058	3	3	22	1	0	0	0	0	1	0	0	0	16296	188	7	3	1246	3	TNFRSF8	1	12186058	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	103724	12186058	237064563	104	5212										
TNFRSF1B	7133	hgsc.bcm.edu	37	chr1	12253003	12253003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccggagtatggccccagGggcagtacacttaccccagc	11	16	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12253003G>A	ENST00000376259.3	+	6	724	c.635G>A	c.(634-636)gGg>gAg	p.G212E	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	212					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGGCCCCAGGGGCAGTACAC	0.617																																					p.G212E		Atlas-SNP	.											.	TNFRSF1B	28	.	0			c.G635A						PASS	.						165	121	136					1																	12253003		2203	4300	6503	SO:0001583	missense	7133	exon6			CCCCAGGGGCAGT	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.635G>A	1.37:g.12253003G>A	ENSP00000365435:p.Gly212Glu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	110	58	0.527273	NM_001066	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	3.321	-0.138774	0.06669	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.86097	-2.07	3.31	-0.714	0.11219	.	2.871980	0.01167	N	0.006766	T	0.75273	0.3827	L	0.38953	1.18	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.60840	-0.7183	10	0.02654	T	1	0.0033	6.2978	0.21095	0.4784:0.0:0.5216:0.0	.	212	P20333	TNR1B_HUMAN	E	212	ENSP00000365435:G212E	ENSP00000365435:G212E	G	+	2	0	TNFRSF1B	12175590	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.169000	0.09911	-0.138000	0.11434	-0.812000	0.03155	GGG	.	.	none		0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		A	12253003	G	A	12253003	3	1	22	1	0	0	0	0	1	0	0	0	16291	1232	43	2	657	2	TNFRSF1B	1	12253003	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66945	12253003	236997618	105	5213										
VPS13D	55187	hgsc.bcm.edu	37	chr1	12339619	12339619	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagatccctatagagagagAatctgaattgactttttctc	8	7	2	5	rs4845898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12339619A>T	ENST00000358136.3	+	20	4644	c.4514A>T	c.(4513-4515)gAa>gTa	p.E1505V	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1505V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATAGAGAGAGAATCTGAATTG	0.378													A|||	807	0.161142	0.0151	0.2118	5008	,	,		16353	0.1964		0.2356	False		,,,				2504	0.2096				p.E1505V		Atlas-SNP	.											.	VPS13D	316	.	0			c.A4514T						PASS	.	A	VAL/GLU,VAL/GLU	190,4216	121.3+/-158.8	6,178,2019	103	104	104		4514,4514	6	1	1	dbSNP_111	104	1970,6630	346.9+/-326.4	213,1544,2543	yes	missense,missense	VPS13D	NM_015378.2,NM_018156.2	121,121	219,1722,4562	TT,TA,AA		22.907,4.3123,16.6077	benign,benign	1505/4389,1505/4364	12339619	2160,10846	2203	4300	6503	SO:0001583	missense	55187	exon20			AGAGAGAATCTGA	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4514A>T	1.37:g.12339619A>T	ENSP00000350854:p.Glu1505Val	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	172	85	0.494186	NM_015378		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	374|374	0.17124542124542125|0.17124542124542125	13|13	0.026422764227642278|0.026422764227642278	75|75	0.20718232044198895|0.20718232044198895	114|114	0.1993006993006993|0.1993006993006993	172|172	0.22691292875989447|0.22691292875989447	A|A	17.77|17.77	3.471713|3.471713	0.63737|0.63737	0.043123|0.043123	0.22907|0.22907	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.54279|.	0.58;0.59|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.213969|.	0.47852|.	D|.	0.000216|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	P|P	1.0|1.0	P;B|.	0.49559|.	0.925;0.09|.	P;B|.	0.45712|.	0.491;0.046|.	T|T	0.04140|0.04140	-1.0974|-1.0974	9|4	0.38643|.	T|.	0.18|.	.|.	16.542|16.542	0.84395|0.84395	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs4845898;rs17350565;rs4845898|rs4845898;rs17350565;rs4845898	1505;1505|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	V|Y	1505|328	ENSP00000348666:E1505V;ENSP00000350854:E1505V|.	ENSP00000348666:E1505V|.	E|N	+|+	2|1	0|0	VPS13D|VPS13D	12262206|12262206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.771000|4.771000	0.62318|0.62318	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	GAA|AAT	A|0.831;T|0.169	0.169	strong		0.378	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12339619	A	T	12339619	3	4	22	1	0	0	0	0	1	0	0	0	17189	246	9	5	4588	5	VPS13D	1	12339619	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86616	12339619	236911002	106	5214										
AADACL3	126767	hgsc.bcm.edu	37	chr1	12779560	12779560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcctccgctaaagtatgaTcccgatgttgtggtcacgga	11	11	1	1	rs3010876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12779560T>C	ENST00000359318.5	+	2	286	c.81T>C	c.(79-81)gaT>gaC	p.D27D	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	27							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAGTATGATCCCGATGTTG	0.483													C|||	4254	0.849441	0.9228	0.8818	5008	,	,		8510	0.7817		0.83	False		,,,				2504	0.817				p.D27D		Atlas-SNP	.											.	AADACL3	84	.	0			c.T81C						PASS	.	C	,	3581,333		1636,309,12	157	162	160		,81	-6.3	0	1	dbSNP_101	160	6892,1418		2864,1164,127	no	intron,coding-synonymous	AADACL3	NM_001103169.1,NM_001103170.1	,	4500,1473,139	CC,CT,TT		17.0638,8.5079,14.3243	,	,27/351	12779560	10473,1751	1957	4155	6112	SO:0001819	synonymous_variant	126767	exon2			GTATGATCCCGAT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.81T>C	1.37:g.12779560T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	130	130	1	NM_001103170	B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	CCDS41253.1																																																																																			T|0.148;C|0.852	0.852	strong		0.483	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		C	12779560	T	C	12779560	2	2	22	1	0	0	0	0	0	0	0	1	12	1432	50	2		2	AADACL3	1	12779560	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	439941	12779560	236471061	107	5215										
AADACL3	126767	hgsc.bcm.edu	37	chr1	12779618	12779618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctgtgaagctgtaccaaTccaaggcatccacctgcacc	7	16	0	1	rs3010877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12779618T>C	ENST00000359318.5	+	2	344	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	47			S -> P (in dbSNP:rs3010877).				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACCAATCCAAGGCATC	0.517													C|||	4247	0.848043	0.9228	0.879	5008	,	,		18666	0.7817		0.826	False		,,,				2504	0.816				p.S47P		Atlas-SNP	.											.	AADACL3	84	.	0			c.T139C						PASS	.	C	,PRO/SER	3656,336		1670,316,10	105	110	109		,139	4.4	0.4	1	dbSNP_101	109	6915,1421		2853,1209,106	yes	intron,missense	AADACL3	NM_001103169.1,NM_001103170.1	,74	4523,1525,116	CC,CT,TT		17.0465,8.4168,14.2521	,benign	,47/351	12779618	10571,1757	1996	4168	6164	SO:0001583	missense	126767	exon2			TACCAATCCAAGG		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.139T>C	1.37:g.12779618T>C	ENSP00000352268:p.Ser47Pro	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	145	142	0.97931	NM_001103170	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	1860	0.8516483516483516	451	0.9166666666666666	316	0.8729281767955801	463	0.8094405594405595	630	0.8311345646437994	C	0.175	-1.067753	0.01934	0.915832	0.829535	ENSG00000188984	ENST00000359318	T	0.02656	4.21	4.44	4.44	0.53790	.	0.055747	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00026	-2.67	0.58432	P	9.99999999995449E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	9	0.02654	T	1	-17.4213	9.7469	0.40453	0.0:0.9025:0.0:0.0975	rs3010877;rs52820652;rs59887427;rs3010877	47	Q5VUY0	ADCL3_HUMAN	P	47	ENSP00000352268:S47P	ENSP00000352268:S47P	S	+	1	0	AADACL3	12702205	0.996000	0.38824	0.397000	0.26308	0.034000	0.12701	2.226000	0.42963	1.108000	0.41662	-0.320000	0.08662	TCC	T|0.150;C|0.850	0.850	strong		0.517	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		C	12779618	T	C	12779618	3	2	22	1	0	0	0	0	1	0	0	0	12	1435	50	2	149	2	AADACL3	1	12779618	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58	12779618	236471003	108	5216										
AADACL3	126767	hgsc.bcm.edu	37	chr1	12785494	12785494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagtttcatctgctactGtttttttcaaaacctggatt	7	8	3	0	rs7513079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12785494G>T	ENST00000359318.5	+	4	789	c.584G>T	c.(583-585)tGt>tTt	p.C195F	AADACL3_ENST00000332530.3_Missense_Mutation_p.C125F	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458													G|||	3417	0.682308	0.4849	0.7752	5008	,	,		20711	0.7798		0.7296	False		,,,				2504	0.7342				p.C195F		Atlas-SNP	.											.	AADACL3	84	.	0			c.G584T						PASS	.	G	PHE/CYS,PHE/CYS	1942,1766		519,904,431	148	137	140		374,584	5.3	0.5	1	dbSNP_116	140	5994,2194		2181,1632,281	yes	missense,missense	AADACL3	NM_001103169.1,NM_001103170.1	205,205	2700,2536,712	TT,TG,GG		26.7953,47.6268,33.2885	benign,benign	125/281,195/351	12785494	7936,3960	1854	4094	5948	SO:0001583	missense	126767	exon4			GCTACTGTTTTTT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.584G>T	1.37:g.12785494G>T	ENSP00000352268:p.Cys195Phe	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	48	1	NM_001103170	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	1529	0.700091575091575	238	0.483739837398374	272	0.7513812154696132	457	0.798951048951049	562	0.741424802110818	G	4.099	0.016412	0.07959	0.523732	0.732047	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.06849	3.25;3.52	5.35	5.35	0.76521	.	0.108387	0.64402	N	0.000004	T	0.00012	0.0000	N	0.04275	-0.24	0.58432	P	1.0000000000287557E-6	B;B	0.25719	0.132;0.017	B;B	0.36244	0.22;0.037	T	0.39165	-0.9627	9	0.02654	T	1	-17.2471	5.3591	0.16077	0.1565:0.0:0.6728:0.1707	rs7513079;rs60105455;rs7513079	195;125	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	F	125;195	ENSP00000333352:C125F;ENSP00000352268:C195F	ENSP00000333352:C125F	C	+	2	0	AADACL3	12708081	0.093000	0.21703	0.464000	0.27143	0.038000	0.13279	1.327000	0.33746	2.504000	0.84457	0.484000	0.47621	TGT	G|0.302;N|0.001	.	strong		0.458	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		T	12785494	G	T	12785494	3	4	22	1	0	0	0	0	1	0	0	0	12	1377	48	4	602	4	AADACL3	1	12785494	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5876	12785494	236465127	109	5217										
C1orf158	93190	hgsc.bcm.edu	37	chr1	12819401	12819401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctgtggctgccagagaaGtctgactttccccttcttgg	11	11	2	2	rs115263357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12819401G>A	ENST00000288048.5	+	3	600	c.384G>A	c.(382-384)aaG>aaA	p.K128K	C1orf158_ENST00000376210.3_Silent_p.K90K	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	128										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGAGAAGTCTGACTTTC	0.522													G|||	33	0.00658946	0.0227	0.0043	5008	,	,		20187	0.0		0.0	False		,,,				2504	0.0				p.K128K		Atlas-SNP	.											.	C1orf158	28	.	0			c.G384A						PASS	.	G		78,4328		0,78,2125	86	88	87		384	1.4	0.3	1	dbSNP_132	87	0,8600		0,0,4300	no	coding-synonymous	C1orf158	NM_152290.2		0,78,6425	AA,AG,GG		0.0,1.7703,0.5997		128/195	12819401	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	93190	exon3			AGAGAAGTCTGAC	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.384G>A	1.37:g.12819401G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	107	53	0.495327	NM_152290	Q5VUY4	Silent	SNP	ENST00000288048.5	37	CCDS147.1																																																																																			G|0.993;A|0.007	0.007	strong		0.522	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		A	12819401	G	A	12819401	2	1	22	1	0	0	0	0	0	0	0	1	2007	1020	36	2		2	C1orf158	1	12819401	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33907	12819401	236431220	110	5218										
C1orf158	93190	hgsc.bcm.edu	37	chr1	12820870	12820870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccatcgcctgcatcctTtcccacacttctgagagctg	6	18	1	1	rs1132185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12820870T>C	ENST00000288048.5	+	4	787	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L	C1orf158_ENST00000376210.3_Missense_Mutation_p.F153L	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	191			F -> L (in dbSNP:rs1132185). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCATCCTTTCCCACACTT	0.572													C|||	4124	0.823482	0.9153	0.8545	5008	,	,		18125	0.7808		0.7873	False		,,,				2504	0.7587				p.F191L		Atlas-SNP	.											.	C1orf158	28	.	0			c.T571C						PASS	.	C	LEU/PHE	3936,470		1756,424,23	73	66	68		571	-8.7	0	1	dbSNP_86	68	6789,1811		2681,1427,192	yes	missense	C1orf158	NM_152290.2	22	4437,1851,215	CC,CT,TT		21.0581,10.6673,17.5381	benign	191/195	12820870	10725,2281	2203	4300	6503	SO:0001583	missense	93190	exon4			CATCCTTTCCCAC	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.571T>C	1.37:g.12820870T>C	ENSP00000288048:p.Phe191Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_152290	Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	CCDS147.1	1812	0.8296703296703297	449	0.9126016260162602	302	0.8342541436464088	457	0.798951048951049	604	0.7968337730870713	.	5.655	0.305549	0.10678	0.893327	0.789419	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.38077	1.17;1.16	4.34	-8.68	0.00859	.	2.467460	0.01330	N	0.011232	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	9	0.13853	T	0.58	0.0239	1.1769	0.01837	0.2301:0.3027:0.1124:0.3547	rs1132185;rs3192730;rs9430817;rs17038529;rs17038532;rs17845913;rs17858888;rs60888644;rs1132185	191	Q8N1D5	CA158_HUMAN	L	191;153	ENSP00000288048:F191L;ENSP00000365383:F153L	ENSP00000288048:F191L	F	+	1	0	C1orf158	12743457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.774000	0.04684	-1.940000	0.01043	-2.508000	0.00189	TTC	T|0.173;C|0.827	0.827	strong		0.572	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		C	12820870	T	C	12820870	3	2	22	1	0	0	0	0	1	0	0	0	2007	1841	64	2	585	2	C1orf158	1	12820870	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1469	12820870	236429751	111	5219										
PRAMEF12	390999	hgsc.bcm.edu	37	chr1	12835868	12835868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgcttcaagaatgggaTgctggatgaatgcctcaccc	10	11	2	2	rs1812242|rs386628595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12835868T>C	ENST00000357726.4	+	2	497	c.470T>C	c.(469-471)aTg>aCg	p.M157T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	157			M -> T (in dbSNP:rs1812242).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAATGGGATGCTGGATGAA	0.532													t|||	3588	0.716454	0.5696	0.8213	5008	,	,		19544	0.7183		0.7982	False		,,,				2504	0.7546				p.M157T		Atlas-SNP	.											.	PRAMEF12	69	.	0			c.T470C						PASS	.	C	THR/MET	2673,1733		810,1053,340	119	125	123		470	-2.4	0	1	dbSNP_92	123	6910,1690		2754,1402,144	yes	missense	PRAMEF12	NM_001080830.1	81	3564,2455,484	CC,CT,TT		19.6512,39.3327,26.3186	benign	157/484	12835868	9583,3423	2203	4300	6503	SO:0001583	missense	390999	exon2			ATGGGATGCTGGA		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.470T>C	1.37:g.12835868T>C	ENSP00000350358:p.Met157Thr	Somatic	401	0	0		WXS	Illumina HiSeq	Phase_I	388	387	0.997423	NM_001080830		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	1611	0.7376373626373627	283	0.5752032520325203	294	0.8121546961325967	418	0.7307692307692307	616	0.8126649076517151	.	0.004	-2.316973	0.00235	0.606673	0.803488	ENSG00000116726	ENST00000357726	T	0.00949	5.51	2.67	-2.39	0.06602	.	2.671990	0.01490	N	0.017038	T	0.00012	0.0000	N	0.00077	-2.24	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	9	0.14656	T	0.56	.	5.42	0.16396	0.0:0.2483:0.5078:0.2439	rs1812242;rs2076217;rs56421762;rs59705408;rs1812242	157	O95522	PRA12_HUMAN	T	157	ENSP00000350358:M157T	ENSP00000350358:M157T	M	+	2	0	PRAMEF12	12758455	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.543000	0.02194	-0.966000	0.03587	-0.684000	0.03749	ATG	T|0.256;G|0.003	.	strong		0.532	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		C	12835868	T	C	12835868	3	2	22	1	0	0	0	0	1	0	0	0	12428	1464	51	2	476	2	PRAMEF12	1	12835868	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14998	12835868	236414753	112	5220										
PRAMEF12	390999	hgsc.bcm.edu	37	chr1	12837634	12837634	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttaaggcagcccaagatTattgtgttcagcactgtccc	9	11	1	1	rs848578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12837634T>A	ENST00000357726.4	+	3	1371	c.1344T>A	c.(1342-1344)atT>atA	p.I448I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	448					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCAAGATTATTGTGTTCA	0.547													t|||	3322	0.663339	0.3729	0.8055	5008	,	,		20221	0.7192		0.8012	False		,,,				2504	0.7556				p.I448I		Atlas-SNP	.											.	PRAMEF12	69	.	0			c.T1344A						PASS	.	T		1892,2514		414,1064,725	127	126	126		1344	-5.5	0	1	dbSNP_86	126	6981,1619		2811,1359,130	yes	coding-synonymous	PRAMEF12	NM_001080830.1		3225,2423,855	AA,AT,TT		18.8256,42.9414,31.7776		448/484	12837634	8873,4133	2203	4300	6503	SO:0001819	synonymous_variant	390999	exon3			CAAGATTATTGTG		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1344T>A	1.37:g.12837634T>A		Somatic	533	0	0		WXS	Illumina HiSeq	Phase_I	572	571	0.998252	NM_001080830		Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																			T|0.287;C|0.001;A|0.713	0.713	strong		0.547	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12837634	T	A	12837634	2	1	22	1	0	0	0	0	0	0	0	1	12428	1742	61	5		5	PRAMEF12	1	12837634	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1766	12837634	236412987	113	5221										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854428	12854428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattcgcaacatgtcctggCcacgtctgataagaaagctt	8	10	1	2	rs1769774		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12854428C>T	ENST00000332296.7	+	3	755	c.652C>T	c.(652-654)Cca>Tca	p.P218S	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	218			P -> S (in dbSNP:rs1769774).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATGTCCTGGCCACGTCTGAT	0.393																																					p.P218S		Atlas-SNP	.											.	PRAMEF1	78	.	0			c.C652T						PASS	.	G	SER/PRO	959,3447		7,945,1251	298	273	282		652	-0.5	0	1	dbSNP_89	282	2715,5885		261,2193,1846	no	missense	PRAMEF1	NM_023013.2	74	268,3138,3097	TT,TC,CC		31.5698,21.7658,28.2485	benign	218/475	12854428	3674,9332	2203	4300	6503	SO:0001583	missense	65121	exon3			TCCTGGCCACGTC	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.652C>T	1.37:g.12854428C>T	ENSP00000332134:p.Pro218Ser	Somatic	618	1	0.00161812		WXS	Illumina HiSeq	Phase_I	666	251	0.376877	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	626	0.2866300366300366	87	0.17682926829268292	101	0.27900552486187846	215	0.3758741258741259	223	0.2941952506596306	.	0.007	-2.005143	0.00426	0.217658	0.315698	ENSG00000116721	ENST00000332296	T	0.14640	2.49	1.61	-0.486	0.12064	.	2.279790	0.02045	N	0.049591	T	0.00012	0.0000	N	0.05230	-0.09	0.80722	P	0.0	B	0.15719	0.014	B	0.20384	0.029	T	0.47328	-0.9126	9	0.20046	T	0.44	.	2.601	0.04867	0.0:0.4561:0.3162:0.2277	rs1769774	218	O95521	PRAM1_HUMAN	S	218	ENSP00000332134:P218S	ENSP00000332134:P218S	P	+	1	0	PRAMEF1	12777015	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.115000	0.10741	-0.146000	0.11274	-0.445000	0.05633	CCA	C|0.713;T|0.287	0.287	strong		0.393	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854428	C	T	12854428	3	4	22	1	0	0	0	0	1	0	0	0	12425	739	26	2	658	2	PRAMEF1	1	12854428	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16794	12854428	236396193	114	5222										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855647	12855647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctacctattggaagaagaCatgaagtgtctctcccagta	10	9	1	3	rs200536957		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12855647C>T	ENST00000332296.7	+	4	1030	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PRAMEF1_ENST00000400814.3_Silent_p.D64D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAAGACATGAAGTGTC	0.498																																					p.D309D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,+2,2	PRAMEF1	78	2	0			c.C927T						scavenged	.						43	48	46					1																	12855647		2197	4275	6472	SO:0001819	synonymous_variant	65121	exon4			AGAAGACATGAAG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.927C>T	1.37:g.12855647C>T		Somatic	376	61	0.162234		WXS	Illumina HiSeq	Phase_I	426	39	0.0915493	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			C|0.999;T|0.001	0.001	weak		0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855647	C	T	12855647	2	4	22	1	0	0	0	0	0	0	0	1	12425	477	17	2		2	PRAMEF1	1	12855647	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1219	12855647	236394974	115	5223										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12856087	12856087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcttcattggccccacccCctgcccttcctgtggctcat	7	18	3	0	rs141070565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12856087C>T	ENST00000332296.7	+	4	1470	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P211L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	456					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P456L(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCCACCCCCTGCCCTTCC	0.557																																					p.P456L		Atlas-SNP	.											PRAMEF1,trunk,malignant_melanoma,0,4	PRAMEF1	78	4	4	Substitution - Missense(4)	skin(4)	c.C1367T						scavenged	.	C	LEU/PRO	154,4248		0,154,2047	61	69	66		1367	-2.3	0	1	dbSNP_134	66	288,8300		0,288,4006	no	missense	PRAMEF1	NM_023013.2	98	0,442,6053	TT,TC,CC		3.3535,3.4984,3.4026	probably-damaging	456/475	12856087	442,12548	2201	4294	6495	SO:0001583	missense	65121	exon4			CCACCCCCTGCCC	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1367C>T	1.37:g.12856087C>T	ENSP00000332134:p.Pro456Leu	Somatic	699	0	0		WXS	Illumina HiSeq	Phase_I	835	136	0.162874	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.313050	0.23908	0.034984	0.033535	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.51071	0.72;0.72	1.56	-2.32	0.06745	.	1.064360	0.07319	N	0.877252	T	0.20292	0.0488	L	0.58810	1.83	0.09310	N	1	P	0.50819	0.939	P	0.51135	0.66	T	0.19943	-1.0290	10	0.17832	T	0.49	.	0.4517	0.00502	0.2326:0.3128:0.2565:0.1982	.	456	O95521	PRAM1_HUMAN	L	456;211	ENSP00000332134:P456L;ENSP00000383616:P211L	ENSP00000332134:P456L	P	+	2	0	PRAMEF1	12778674	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-0.706000	0.05028	0.205000	0.17691	CCC	C|0.968;T|0.032	0.032	strong		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12856087	C	T	12856087	3	4	22	1	0	0	0	0	1	0	0	0	12425	623	22	2	1377	2	PRAMEF1	1	12856087	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	440	12856087	236394534	116	5224										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12908107	12908107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacacgggagttcatggaGtgaggatccatcttgttggt	13	7	2	1	rs12566484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12908107G>A	ENST00000317869.6	-	2	261	c.36C>T	c.(34-36)caC>caT	p.H12H		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	12						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGTTCATGGAGTGAGGATCCA	0.463																																					p.H12H		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,0,1	HNRNPCL1	68	1	0			c.C36T						PASS	.	G		390,4016	162.2+/-194.2	0,390,1813	188	174	179		36	0.1	0	1	dbSNP_131	179	44,8556	17.3+/-56.4	0,44,4256	no	coding-synonymous	HNRNPCL1	NM_001013631.1		0,434,6069	AA,AG,GG		0.5116,8.8516,3.3369		12/294	12908107	434,12572	2203	4300	6503	SO:0001819	synonymous_variant	343069	exon2			CATGGAGTGAGGA	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.36C>T	1.37:g.12908107G>A		Somatic	951	1	0.00105152		WXS	Illumina HiSeq	Phase_I	772	138	0.178756	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			G|0.955;A|0.045	0.045	strong		0.463	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12908107	G	A	12908107	2	1	22	1	0	0	0	0	0	0	0	1	7263	1020	36	2		2	HNRNPCL1	1	12908107	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52020	12908107	236342514	117	5225										
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12918903	12918903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagactactggagctggcGgggcagagcctgctgagaga	17	10	0	4	rs17038644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12918903G>A	ENST00000240189.2	+	2	126	c.39G>A	c.(37-39)gcG>gcA	p.A13A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCTGGCGGGGCAGAGCC	0.562													.|||	197	0.0393371	0.0908	0.0144	5008	,	,		19026	0.0298		0.0189	False		,,,				2504	0.0184				p.A13A		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.G39A						PASS	.	A		276,4126	143.8+/-178.8	19,238,1944	88	99	95		39	-1.7	0	1	dbSNP_123	95	7,8587		0,7,4290	no	coding-synonymous	PRAMEF2	NM_023014.1		19,245,6234	AA,AG,GG		0.0815,6.2699,2.1776		13/475	12918903	283,12713	2201	4297	6498	SO:0001819	synonymous_variant	65122	exon2			GCTGGCGGGGCAG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.39G>A	1.37:g.12918903G>A		Somatic	358	1	0.0027933		WXS	Illumina HiSeq	Phase_I	452	227	0.502212	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			G|0.978;A|0.022	0.022	strong		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12918903	G	A	12918903	2	1	22	1	0	0	0	0	0	0	0	1	12435	1103	39	1		1	PRAMEF2	1	12918903	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10796	12918903	236331718	118	5226			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12918963	12918963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatggaggagctgcccagGgtgctctatctcccactctt	11	14	3	0	rs9661554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12918963G>T	ENST00000240189.2	+	2	186	c.99G>T	c.(97-99)agG>agT	p.R33S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	33			R -> S (in dbSNP:rs9661554).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCCCAGGGTGCTCTATC	0.627													.|||	523	0.104433	0.1127	0.0965	5008	,	,		19696	0.128		0.1064	False		,,,				2504	0.0726				p.R33S		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.G99T						PASS	.	G	SER/ARG	576,3826	254.9+/-260.3	62,452,1687	100	109	106		99	-1.7	0	1	dbSNP_119	106	975,7617	211.0+/-251.7	75,825,3396	no	missense	PRAMEF2	NM_023014.1	110	137,1277,5083	TT,TG,GG		11.3478,13.085,11.9363	probably-damaging	33/475	12918963	1551,11443	2201	4296	6497	SO:0001583	missense	65122	exon2			GCCCAGGGTGCTC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.99G>T	1.37:g.12918963G>T	ENSP00000240189:p.Arg33Ser	Somatic	454	2	0.00440529		WXS	Illumina HiSeq	Phase_I	518	243	0.469112	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	218	0.09981684981684982	38	0.07723577235772358	34	0.09392265193370165	60	0.1048951048951049	86	0.11345646437994723	G	4.074	0.011518	0.07912	0.13085	0.113478	ENSG00000120952	ENST00000240189	T	0.04551	3.6	0.842	-1.68	0.08212	.	1.537720	0.04347	N	0.355072	T	0.00073	0.0002	M	0.70275	2.135	0.80722	P	0.0	P	0.44776	0.843	P	0.45610	0.487	T	0.31696	-0.9934	9	0.20519	T	0.43	.	4.1361	0.10170	0.5271:0.0:0.4729:0.0	rs9661554	33	O60811	PRAM2_HUMAN	S	33	ENSP00000240189:R33S	ENSP00000240189:R33S	R	+	3	2	PRAMEF2	12841550	0.017000	0.18338	0.000000	0.03702	0.002000	0.02628	-0.372000	0.07504	-0.705000	0.05035	-1.038000	0.02383	AGG	G|0.891;T|0.109	0.109	strong		0.627	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12918963	G	T	12918963	3	4	22	1	0	0	0	0	1	0	0	0	12435	1223	43	4	101	4	PRAMEF2	1	12918963	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60	12918963	236331658	119	5227			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919064	12919064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcacctgcctccctctggTatcgctgatgaagacgcttc	8	14	2	3	rs3204790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919064T>G	ENST00000240189.2	+	2	287	c.200T>G	c.(199-201)gTa>gGa	p.V67G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	67			V -> G (in dbSNP:rs3204790).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.V67G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCTCTGGTATCGCTGATG	0.557													.|||	934	0.186502	0.1437	0.1297	5008	,	,		22643	0.3333		0.1531	False		,,,				2504	0.1677				p.V67G		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	prostate(1)	c.T200G						scavenged	.	G	GLY/VAL	705,3697	757.4+/-412.7	76,553,1572	144	150	148		200	0.8	0.1	1	dbSNP_105	148	1295,7297	751.5+/-407.4	117,1061,3118	no	missense	PRAMEF2	NM_023014.1	109	193,1614,4690	GG,GT,TT		15.0722,16.0154,15.3917	benign	67/475	12919064	2000,10994	2201	4296	6497	SO:0001583	missense	65122	exon2			CTCTGGTATCGCT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.200T>G	1.37:g.12919064T>G	ENSP00000240189:p.Val67Gly	Somatic	323	4	0.0123839		WXS	Illumina HiSeq	Phase_I	392	180	0.459184	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	480	0.21978021978021978	76	0.15447154471544716	59	0.16298342541436464	188	0.32867132867132864	157	0.20712401055408972	G	0.004	-2.285905	0.00251	0.160154	0.150722	ENSG00000120952	ENST00000240189	T	0.04049	3.72	0.842	0.842	0.18927	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00004	-3.36	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	9	0.02654	T	1	.	4.0419	0.09755	0.0:0.0:0.5905:0.4095	rs3204790;rs17038653	67	O60811	PRAM2_HUMAN	G	67	ENSP00000240189:V67G	ENSP00000240189:V67G	V	+	2	0	PRAMEF2	12841651	0.017000	0.18338	0.148000	0.22405	0.037000	0.13140	-0.608000	0.05641	-0.047000	0.13423	-1.044000	0.02363	GTA	T|0.824;G|0.176	0.176	strong		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919064	T	G	12919064	3	3	22	1	0	0	0	0	1	0	0	0	12435	1638	57	5	202	5	PRAMEF2	1	12919064	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	101	12919064	236331557	120	5228			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919079	12919079	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggtatcgctgatgaagaCgcttcatctggagccattga					rs9659529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919079C>G	ENST00000240189.2	+	2	302	c.215C>G	c.(214-216)aCg>aGg	p.T72R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	72			T -> R (in dbSNP:rs9659529).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAAGACGCTTCATCTG	0.557													.|||	540	0.107827	0.1263	0.098	5008	,	,		22731	0.127		0.1064	False		,,,				2504	0.0716				p.T72R		Atlas-SNP	.											PRAMEF2,caecum,carcinoma,-1,2	PRAMEF2	85	2	0			c.C215G						PASS	.	T	ARG/THR	623,3779	268.6+/-268.5	67,489,1645	153	163	160		215	-1.7	0.1	1	dbSNP_119	160	960,7632	209.4+/-250.6	62,836,3398	no	missense	PRAMEF2	NM_023014.1	71	129,1325,5043	GG,GC,CC		11.1732,14.1527,12.1825	possibly-damaging	72/475	12919079	1583,11411	2201	4296	6497	SO:0001583	missense	65122	exon2			TGAAGACGCTTCA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.215C>G	1.37:g.12919079C>G	ENSP00000240189:p.Thr72Arg	Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	348	167	0.479885	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	230	0.10531135531135531	46	0.09349593495934959	35	0.09668508287292818	62	0.10839160839160839	87	0.11477572559366754	c	1.758	-0.487598	0.04352	0.141527	0.111732	ENSG00000120952	ENST00000240189	T	0.11277	2.79	0.842	-1.68	0.08212	.	4.218360	0.00582	N	0.000330	T	0.00178	0.0005	L	0.50919	1.6	0.80722	P	0.0	P	0.41643	0.758	D	0.64237	0.923	T	0.14476	-1.0471	9	0.25106	T	0.35	.	4.1359	0.10170	0.0:0.4732:0.0:0.5268	rs9659529;rs9659529	72	O60811	PRAM2_HUMAN	R	72	ENSP00000240189:T72R	ENSP00000240189:T72R	T	+	2	0	PRAMEF2	12841666	0.000000	0.05858	0.064000	0.19789	0.045000	0.14185	-0.129000	0.10515	-0.704000	0.05042	-1.031000	0.02408	ACG	C|0.887;G|0.113	0.113	strong		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919079	C	G	12919079	3	3	22	1	0	0	0	0	1	0	0	0	12435	536	19	4	217	4	PRAMEF2	1	12919079	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	12919079	236331542	121	5229	99	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919081	12919081	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtatcgctgatgaagacgCttcatctggagccattgaaa					rs45443899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919081C>T	ENST00000240189.2	+	2	304	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	73					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGACGCTTCATCTGGA	0.557													.|||	669	0.133586	0.2821	0.1081	5008	,	,		22898	0.0159		0.1083	False		,,,				2504	0.0982				p.L73F		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.C217T						PASS	.	C	PHE/LEU	1066,3336	386.8+/-326.2	162,742,1297	154	164	161		217	0.8	0.1	1	dbSNP_127	161	937,7655	206.5+/-248.5	79,779,3438	yes	missense	PRAMEF2	NM_023014.1	22	241,1521,4735	TT,TC,CC		10.9055,24.2163,15.4148	probably-damaging	73/475	12919081	2003,10991	2201	4296	6497	SO:0001583	missense	65122	exon2			AAGACGCTTCATC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.217C>T	1.37:g.12919081C>T	ENSP00000240189:p.Leu73Phe	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	342	177	0.517544	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	261	0.11950549450549451	131	0.266260162601626	41	0.1132596685082873	7	0.012237762237762238	82	0.10817941952506596	C	7.557	0.663873	0.14710	0.242163	0.109055	ENSG00000120952	ENST00000240189	T	0.16597	2.33	0.842	0.842	0.18927	.	0.886493	0.09599	N	0.780473	T	0.00012	0.0000	L	0.39147	1.195	0.80722	P	0.0	D	0.62365	0.991	P	0.59643	0.861	T	0.39901	-0.9591	9	0.49607	T	0.09	.	5.0452	0.14480	0.0:1.0:0.0:0.0	rs45443899	73	O60811	PRAM2_HUMAN	F	73	ENSP00000240189:L73F	ENSP00000240189:L73F	L	+	1	0	PRAMEF2	12841668	0.000000	0.05858	0.055000	0.19348	0.048000	0.14542	0.446000	0.21694	0.759000	0.33084	0.194000	0.17425	CTT	C|0.860;T|0.140	0.140	strong		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12919081	C	T	12919081	3	4	22	1	0	0	0	0	1	0	0	0	12435	797	28	2	219	2	PRAMEF2	1	12919081	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	12919081	236331540	122	5230	99	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919623	12919623	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatggcctggagcctgggcCctgtcctgcttcccagaggc					rs75838083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919623C>T	ENST00000240189.2	+	3	450	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	121					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGGGCCCTGTCCTGCT	0.552													.|||	543	0.108427	0.1256	0.098	5008	,	,		21027	0.129		0.1064	False		,,,				2504	0.0736				p.A121A		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.C363T						PASS	.	C		187,4217		46,95,2061	142	163	156		363	-0.3	0	1	dbSNP_131	156	162,8432		38,86,4173	no	coding-synonymous	PRAMEF2	NM_023014.1		84,181,6234	TT,TC,CC		1.885,4.2461,2.685		121/475	12919623	349,12649	2202	4297	6499	SO:0001819	synonymous_variant	65122	exon3			CTGGGCCCTGTCC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.363C>T	1.37:g.12919623C>T		Somatic	341	1	0.00293255		WXS	Illumina HiSeq	Phase_I	323	152	0.470588	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			C|0.897;T|0.103	0.103	strong		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12919623	C	T	12919623	2	4	22	1	0	0	0	0	0	0	0	1	12435	610	22	2		2	PRAMEF2	1	12919623	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	542	12919623	236330998	123	5231	100	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919624	12919624	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcctggagcctgggccCtgtcctgcttcccagaggcc					rs80027487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919624C>G	ENST00000240189.2	+	3	451	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	122					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTGGGCCCTGTCCTGCTT	0.552													.|||	543	0.108427	0.1256	0.098	5008	,	,		21092	0.129		0.1064	False		,,,				2504	0.0736				p.L122V		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.C364G						PASS	.	C	VAL/LEU	199,4205		45,109,2048	144	165	158		364	-0.5	0	1	dbSNP_131	158	176,8418		41,94,4162	no	missense	PRAMEF2	NM_023014.1	32	86,203,6210	GG,GC,CC		2.0479,4.5186,2.8851	probably-damaging	122/475	12919624	375,12623	2202	4297	6499	SO:0001583	missense	65122	exon3			TGGGCCCTGTCCT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.364C>G	1.37:g.12919624C>G	ENSP00000240189:p.Leu122Val	Somatic	343	1	0.00291545		WXS	Illumina HiSeq	Phase_I	326	153	0.469325	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	165	0.07554945054945054	31	0.06300813008130081	26	0.0718232044198895	52	0.09090909090909091	56	0.07387862796833773	C	1.694	-0.503174	0.04261	0.045186	0.020479	ENSG00000120952	ENST00000240189	T	0.16457	2.34	0.842	-0.531	0.11894	.	35.621100	0.00166	N	0.000000	T	0.00412	0.0013	L	0.27053	0.805	0.80722	P	0.0	P	0.44044	0.825	B	0.39562	0.303	T	0.13255	-1.0516	9	0.16896	T	0.51	.	4.3822	0.11299	0.0:0.5326:0.4674:0.0	.	122	O60811	PRAM2_HUMAN	V	122	ENSP00000240189:L122V	ENSP00000240189:L122V	L	+	1	2	PRAMEF2	12842211	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.385000	0.07379	-0.153000	0.11137	0.194000	0.17425	CTG	C|0.896;G|0.104	0.104	strong		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919624	C	G	12919624	3	3	22	1	0	0	0	0	1	0	0	0	12435	680	24	4	370	4	PRAMEF2	1	12919624	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	12919624	236330997	124	5232	100	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919928	12919928	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccacatctgataagaaAgctttattgttacctgaagg					rs72472698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919928A>G	ENST00000240189.2	+	3	755	c.668A>G	c.(667-669)aAg>aGg	p.K223R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	223					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATAAGAAAGCTTTATTGT	0.388													.|||	550	0.109824	0.1271	0.0994	5008	,	,		22697	0.131		0.1083	False		,,,				2504	0.0736				p.K223R		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.A668G						PASS	.	A	ARG/LYS	621,3783	261.9+/-264.6	70,481,1651	101	106	104		668	-1.1	0	1	dbSNP_130	104	965,7619	205.1+/-247.6	81,803,3408	yes	missense	PRAMEF2	NM_023014.1	26	151,1284,5059	GG,GA,AA		11.2418,14.1008,12.2113	possibly-damaging	223/475	12919928	1586,11402	2202	4292	6494	SO:0001583	missense	65122	exon3			TAAGAAAGCTTTA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.668A>G	1.37:g.12919928A>G	ENSP00000240189:p.Lys223Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	134	78	0.58209	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	233	0.10668498168498168	46	0.09349593495934959	36	0.09944751381215469	62	0.10839160839160839	89	0.11741424802110818	A	7.603	0.673163	0.14776	0.141008	0.112418	ENSG00000120952	ENST00000240189	T	0.16196	2.36	0.842	-1.06	0.10002	.	2.602770	0.01453	N	0.015575	T	0.00109	0.0003	L	0.39020	1.185	0.80722	P	0.0	P	0.50443	0.935	B	0.44108	0.441	T	0.13575	-1.0504	9	0.15066	T	0.55	.	2.8122	0.05445	0.5906:0.0:0.0:0.4094	.	223	O60811	PRAM2_HUMAN	R	223	ENSP00000240189:K223R	ENSP00000240189:K223R	K	+	2	0	PRAMEF2	12842515	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.831000	0.00355	-0.306000	0.08818	0.163000	0.16589	AAG	A|0.885;G|0.115	0.115	strong		0.388	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919928	A	G	12919928	3	3	22	1	0	0	0	0	1	0	0	0	12435	72	3	3	674	3	PRAMEF2	1	12919928	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	304	12919928	236330693	125	5233	101	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919934	12919934	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatctgataagaaagctttAttgttacctgaaggagatga					rs3204805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919934A>G	ENST00000240189.2	+	3	761	c.674A>G	c.(673-675)tAt>tGt	p.Y225C		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	225			Y -> C (in dbSNP:rs3204805).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAAGCTTTATTGTTACCTG	0.383													.|||	849	0.169529	0.1437	0.1095	5008	,	,		22588	0.3125		0.1352	False		,,,				2504	0.135				p.Y225C		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.A674G						PASS	.	G	CYS/TYR	714,3690	758.0+/-412.8	77,560,1565	101	106	104		674	-1.7	0	1	dbSNP_105	104	1254,7330	756.9+/-407.5	112,1030,3150	no	missense	PRAMEF2	NM_023014.1	194	189,1590,4715	GG,GA,AA		14.6086,16.2125,15.1524	benign	225/475	12919934	1968,11020	2202	4292	6494	SO:0001583	missense	65122	exon3			AGCTTTATTGTTA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.674A>G	1.37:g.12919934A>G	ENSP00000240189:p.Tyr225Cys	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	138	79	0.572464	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	372	0.17032967032967034	50	0.1016260162601626	46	0.1270718232044199	165	0.28846153846153844	111	0.14643799472295516	G	1.447	-0.566127	0.03910	0.162125	0.146086	ENSG00000120952	ENST00000240189	T	0.14766	2.48	0.842	-1.68	0.08212	.	0.335847	0.28688	N	0.014461	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.17465	0.022	B	0.26202	0.067	T	0.48103	-0.9064	9	0.66056	D	0.02	.	3.4172	0.07380	0.4582:0.2964:0.2453:0.0	rs3204805;rs17038687;rs52806752;rs3204805	225	O60811	PRAM2_HUMAN	C	225	ENSP00000240189:Y225C	ENSP00000240189:Y225C	Y	+	2	0	PRAMEF2	12842521	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.549000	0.02182	-2.688000	0.00405	-2.828000	0.00107	TAT	A|0.846;G|0.154	0.154	strong		0.383	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919934	A	G	12919934	3	3	22	1	0	0	0	0	1	0	0	0	12435	449	16	2	680	2	PRAMEF2	1	12919934	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	12919934	236330687	126	5234	101	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12919963	12919963	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggagatgaagactcttTgcaaactcgttttctccagg	10	8	2	4	rs72472699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12919963T>G	ENST00000240189.2	+	3	790	c.703T>G	c.(703-705)Tgc>Ggc	p.C235G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	235					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACTCTTTGCAAACTCGT	0.428													.|||	689	0.13758	0.1422	0.1614	5008	,	,		22517	0.1438		0.1302	False		,,,				2504	0.1155				p.C235G		Atlas-SNP	.											PRAMEF2,lymph_node,lymphoid_neoplasm,0,1	PRAMEF2	85	1	0			c.T703G						PASS	.						109	113	112					1																	12919963		2203	4299	6502	SO:0001583	missense	65122	exon3			ACTCTTTGCAAAC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.703T>G	1.37:g.12919963T>G	ENSP00000240189:p.Cys235Gly	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	171	103	0.602339	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	561	0.25686813186813184	106	0.21544715447154472	76	0.20994475138121546	148	0.25874125874125875	231	0.30474934036939316	G	2.175	-0.388896	0.04932	.	.	ENSG00000120952	ENST00000240189	T	0.14516	2.5	0.842	-0.163	0.13363	.	2.817050	0.01348	N	0.011788	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	9	0.42905	T	0.14	.	2.5682	0.04788	0.0:0.4409:0.318:0.2411	.	235	O60811	PRAM2_HUMAN	G	235	ENSP00000240189:C235G	ENSP00000240189:C235G	C	+	1	0	PRAMEF2	12842550	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.855000	0.04295	-0.611000	0.05709	-3.628000	0.00027	TGC	T|0.756;G|0.244	0.244	strong		0.428	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12919963	T	G	12919963	3	3	22	1	0	0	0	0	1	0	0	0	12435	1812	63	5	709	5	PRAMEF2	1	12919963	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29	12919963	236330658	127	5235			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12920067	12920067	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctcaggctggaacacctCcagttgcttaaaataaaatt	6	10	1	0	rs17038709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12920067C>G	ENST00000240189.2	+	3	894	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	269					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACACCTCCAGTTGCTTA	0.463													.|||	548	0.109425	0.1263	0.0994	5008	,	,		21768	0.131		0.1083	False		,,,				2504	0.0726				p.L269L		Atlas-SNP	.											PRAMEF2,NS,carcinoma,+2,1	PRAMEF2	85	1	0			c.C807G						PASS	.	C		618,3788	260.7+/-263.8	63,492,1648	91	91	91		807	0.8	0	1	dbSNP_123	91	978,7610	209.0+/-250.3	81,816,3397	no	coding-synonymous	PRAMEF2	NM_023014.1		144,1308,5045	GG,GC,CC		11.388,14.0263,12.2826		269/475	12920067	1596,11398	2203	4294	6497	SO:0001819	synonymous_variant	65122	exon3			ACACCTCCAGTTG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.807C>G	1.37:g.12920067C>G		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	244	123	0.504098	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			C|0.887;G|0.113	0.113	strong		0.463	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12920067	C	G	12920067	2	3	22	1	0	0	0	0	0	0	0	1	12435	842	30	4		4	PRAMEF2	1	12920067	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104	12920067	236330554	128	5236			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921110	12921110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttggagaacttggaattaActtgtggcaacctattagaa	9	7	0	2	rs12139546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921110A>G	ENST00000240189.2	+	4	988	c.901A>G	c.(901-903)Act>Gct	p.T301A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	301			T -> A (in dbSNP:rs12139546).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGAATTAACTTGTGGCAA	0.483													.|||	544	0.108626	0.1271	0.098	5008	,	,		22266	0.128		0.1074	False		,,,				2504	0.0726				p.T301A		Atlas-SNP	.											PRAMEF2,lymph_node,lymphoid_neoplasm,0,1	PRAMEF2	85	1	0			c.A901G						PASS	.	A	ALA/THR	621,3781	261.3+/-264.2	70,481,1650	106	109	108		901	0.8	0	1	dbSNP_120	108	968,7624	204.4+/-247.1	75,818,3403	yes	missense	PRAMEF2	NM_023014.1	58	145,1299,5053	GG,GA,AA		11.2663,14.1072,12.2287	possibly-damaging	301/475	12921110	1589,11405	2201	4296	6497	SO:0001583	missense	65122	exon4			GAATTAACTTGTG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.901A>G	1.37:g.12921110A>G	ENSP00000240189:p.Thr301Ala	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	206	82	0.398058	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	232	0.10622710622710622	45	0.09146341463414634	36	0.09944751381215469	62	0.10839160839160839	89	0.11741424802110818	A	10.84	1.463907	0.26335	0.141072	0.112663	ENSG00000120952	ENST00000240189	T	0.51817	0.69	0.824	0.824	0.18818	.	0.135173	0.49916	D	0.000126	T	0.00440	0.0014	M	0.76727	2.345	0.80722	P	0.0	P	0.42337	0.776	P	0.46659	0.523	T	0.03576	-1.1023	9	0.46703	T	0.11	.	3.9396	0.09321	1.0:0.0:0.0:0.0	rs12139546	301	O60811	PRAM2_HUMAN	A	301	ENSP00000240189:T301A	ENSP00000240189:T301A	T	+	1	0	PRAMEF2	12843697	0.001000	0.12720	0.002000	0.10522	0.052000	0.14988	0.189000	0.17037	0.624000	0.30286	0.145000	0.16022	ACT	A|0.887;G|0.113	0.113	strong		0.483	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921110	A	G	12921110	3	3	22	1	0	0	0	0	1	0	0	0	12435	43	2	2	911	2	PRAMEF2	1	12921110	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1043	12921110	236329511	129	5237			1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921127	12921127	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaacttgtggcaacctattAgaagaggacttgaagtgtct					rs12139549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921127A>G	ENST00000240189.2	+	4	1005	c.918A>G	c.(916-918)ttA>ttG	p.L306L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	306					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAACCTATTAGAAGAGGACT	0.483													.|||	1616	0.322684	0.4349	0.2421	5008	,	,		21674	0.3472		0.2604	False		,,,				2504	0.2669				p.L306L		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.A918G						PASS	.	G		1793,2611	639.8+/-397.2	399,995,808	122	125	124		918	-1	0	1	dbSNP_120	124	2196,6398	708.6+/-405.7	339,1518,2440	no	coding-synonymous	PRAMEF2	NM_023014.1		738,2513,3248	GG,GA,AA		25.5527,40.713,30.6893		306/475	12921127	3989,9009	2202	4297	6499	SO:0001819	synonymous_variant	65122	exon4			CCTATTAGAAGAG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.918A>G	1.37:g.12921127A>G		Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	233	232	0.995708	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			A|0.699;G|0.301	0.301	strong		0.483	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921127	A	G	12921127	2	3	22	1	0	0	0	0	0	0	0	1	12435	417	15	3		3	PRAMEF2	1	12921127	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17	12921127	236329494	130	5238	102	3	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921132	12921132	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggcaacctattagaagAggacttgaagtgtctctccc					rs12139550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921132A>G	ENST00000240189.2	+	4	1010	c.923A>G	c.(922-924)gAg>gGg	p.E308G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	308			E -> G (in dbSNP:rs12139550).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTATTAGAAGAGGACTTGAAG	0.488													.|||	544	0.108626	0.1248	0.098	5008	,	,		21844	0.13		0.1074	False		,,,				2504	0.0736				p.E308G		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.A923G						PASS	.	A	GLY/GLU	609,3795	257.7+/-262.0	69,471,1662	127	130	129		923	-1.6	0	1	dbSNP_120	129	960,7634	202.8+/-246.0	78,804,3415	yes	missense	PRAMEF2	NM_023014.1	98	147,1275,5077	GG,GA,AA		11.1706,13.8283,12.0711	benign	308/475	12921132	1569,11429	2202	4297	6499	SO:0001583	missense	65122	exon4			TAGAAGAGGACTT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.923A>G	1.37:g.12921132A>G	ENSP00000240189:p.Glu308Gly	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	249	103	0.413655	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	232	0.10622710622710622	43	0.08739837398373984	36	0.09944751381215469	62	0.10839160839160839	91	0.12005277044854881	A	3.936	-0.015216	0.07681	0.138283	0.111706	ENSG00000120952	ENST00000240189	T	0.49139	0.79	0.824	-1.65	0.08291	.	1.527710	0.04188	N	0.327753	T	0.00328	0.0010	L	0.43152	1.355	0.80722	P	0.0	B	0.32693	0.38	B	0.36567	0.228	T	0.04178	-1.0971	9	0.54805	T	0.06	.	1.4457	0.02364	0.3457:0.3043:0.0:0.35	rs12139550	308	O60811	PRAM2_HUMAN	G	308	ENSP00000240189:E308G	ENSP00000240189:E308G	E	+	2	0	PRAMEF2	12843719	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.548000	0.06048	-0.938000	0.03714	0.145000	0.16022	GAG	A|0.890;G|0.110	0.110	strong		0.488	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921132	A	G	12921132	3	3	22	1	0	0	0	0	1	0	0	0	12435	304	11	3	933	3	PRAMEF2	1	12921132	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5	12921132	236329489	131	5239	102	3	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921137	12921137	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaacctattagaagaggacTtgaagtgtctctcccagttc					rs17039283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921137T>A	ENST00000240189.2	+	4	1015	c.928T>A	c.(928-930)Ttg>Atg	p.L310M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	310			L -> M (in dbSNP:rs17039283).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGACTTGAAGTGTCT	0.493																																					p.L310M		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	0			c.T928A						scavenged	.						132	134	133					1																	12921137		2202	4297	6499	SO:0001583	missense	65122	exon4			GAGGACTTGAAGT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.928T>A	1.37:g.12921137T>A	ENSP00000240189:p.Leu310Met	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	254	5	0.019685	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	2.970	-0.212708	0.06140	.	.	ENSG00000120952	ENST00000240189	T	0.01076	5.37	0.824	-1.65	0.08291	.	0.471727	0.17963	N	0.156117	T	0.00936	0.0031	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.21360	0.034	T	0.44742	-0.9308	10	0.38643	T	0.18	.	5.2047	0.15285	0.0:0.0:0.2907:0.7093	rs17039283	310	O60811	PRAM2_HUMAN	M	310	ENSP00000240189:L310M	ENSP00000240189:L310M	L	+	1	2	PRAMEF2	12843724	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	-0.072000	0.11486	-1.430000	0.01985	-1.205000	0.01647	TTG	T|1.000;|0.000	.	weak		0.493	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12921137	T	A	12921137	3	1	22	1	0	0	0	0	1	0	0	0	12435	1606	56	5	938	5	PRAMEF2	1	12921137	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	12921137	236329484	132	5240	102	3	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921332	12921332	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcctgcctggcctgagcTgctgctcccagctcaccacc					rs17039307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921332T>C	ENST00000240189.2	+	4	1210	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	375			C -> R (in dbSNP:rs17039307).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTGAGCTGCTGCTCCCA	0.557													.|||	2053	0.409944	0.4728	0.3473	5008	,	,		27939	0.4385		0.3449	False		,,,				2504	0.407				p.C375R		Atlas-SNP	.											PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	0			c.T1123C						scavenged	.						111	118	115					1																	12921332		2201	4294	6495	SO:0001583	missense	65122	exon4			CTGAGCTGCTGCT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1123T>C	1.37:g.12921332T>C	ENSP00000240189:p.Cys375Arg	Somatic	386	24	0.0621762		WXS	Illumina HiSeq	Phase_I	504	502	0.996032	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.280337	0.00254	.	.	ENSG00000120952	ENST00000240189	T	0.08984	3.03	0.824	0.824	0.18818	.	1.330770	0.04798	N	0.433017	T	0.01940	0.0061	N	0.00583	-1.355	0.29017	N	0.886535	B	0.02656	0.0	B	0.04013	0.001	T	0.44298	-0.9337	10	0.02654	T	1	.	3.343	0.07126	0.0:0.6873:0.0:0.3127	rs17039307	375	O60811	PRAM2_HUMAN	R	375	ENSP00000240189:C375R	ENSP00000240189:C375R	C	+	1	0	PRAMEF2	12843919	0.000000	0.05858	0.645000	0.29479	0.002000	0.02628	-0.464000	0.06688	-0.055000	0.13244	-1.206000	0.01644	TGC	.	.	weak		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		C	12921332	T	C	12921332	3	2	22	1	0	0	0	0	1	0	0	0	12435	1580	55	3	1133	3	PRAMEF2	1	12921332	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	195	12921332	236329289	133	5241	103	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921333	12921333	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctgcctggcctgagctGctgctcccagctcaccacct					rs56145411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12921333G>A	ENST00000240189.2	+	4	1211	c.1124G>A	c.(1123-1125)tGc>tAc	p.C375Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	375			C -> R (in dbSNP:rs17039307).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGAGCTGCTGCTCCCAG	0.562													.|||	1359	0.271366	0.3858	0.1844	5008	,	,		27344	0.2857		0.2157	False		,,,				2504	0.2209				p.C375Y		Atlas-SNP	.											PRAMEF2,NS,carcinoma,+1,1	PRAMEF2	85	1	0			c.G1124A						PASS	.						111	118	116					1																	12921333		2201	4294	6495	SO:0001583	missense	65122	exon4			TGAGCTGCTGCTC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1124G>A	1.37:g.12921333G>A	ENSP00000240189:p.Cys375Tyr	Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	497	391	0.78672	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	357	0.16346153846153846	115	0.23373983739837398	63	0.17403314917127072	80	0.13986013986013987	99	0.13060686015831136	g	3.142	-0.176022	0.06380	.	.	ENSG00000120952	ENST00000240189	T	0.09163	3.01	0.824	-0.682	0.11339	.	1.330770	0.04798	N	0.433017	T	0.00012	0.0000	L	0.34521	1.04	0.58432	P	1.999999999946489E-6	B	0.09022	0.002	B	0.29440	0.102	T	0.47114	-0.9142	9	0.72032	D	0.01	.	5.1225	0.14867	0.5904:0.0:0.4096:0.0	rs56145411	375	O60811	PRAM2_HUMAN	Y	375	ENSP00000240189:C375Y	ENSP00000240189:C375Y	C	+	2	0	PRAMEF2	12843920	0.000000	0.05858	0.596000	0.28811	0.002000	0.02628	-0.801000	0.04550	-2.179000	0.00767	-2.900000	0.00093	TGC	G|0.837;A|0.163	0.163	strong		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12921333	G	A	12921333	3	1	22	1	0	0	0	0	1	0	0	0	12435	1319	46	2	1134	2	PRAMEF2	1	12921333	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	12921333	236329288	134	5242	103	2	1	30		17	11	2431	N	T_G_C_A	2.978559e-08
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12939664	12939664	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaaggtgttgagctcaaAgcagcggctcagggcaggca					rs28452936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12939664A>T	ENST00000235349.5	-	4	1208	c.1138T>A	c.(1138-1140)Ttt>Att	p.F380I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	380					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.F380I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAGCTCAAAGCAGCGGCTC	0.507													a|||	579	0.115615	0.1362	0.1023	5008	,	,		20417	0.1399		0.1123	False		,,,				2504	0.0757				p.F380I		Atlas-SNP	.											PRAMEF4,NS,carcinoma,0,1	PRAMEF4	62	1	1	Substitution - Missense(1)	prostate(1)	c.T1138A						scavenged	.	T	ILE/PHE	433,2563		63,307,1128	87	90	89		1138	-1.9	0	1	dbSNP_131	89	614,4742		68,478,2132	no	missense	PRAMEF4	NM_001009611.2	21	131,785,3260	TT,TA,AA		11.4638,14.4526,12.5359	probably-damaging	380/479	12939664	1047,7305	1498	2678	4176	SO:0001583	missense	400735	exon4			GCTCAAAGCAGCG		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1138T>A	1.37:g.12939664A>T	ENSP00000235349:p.Phe380Ile	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	142	50	0.352113	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	269	0.12316849816849818	54	0.10975609756097561	44	0.12154696132596685	70	0.12237762237762238	101	0.13324538258575197	A	8.167	0.790796	0.16258	0.144526	0.114638	ENSG00000243073	ENST00000235349	T	0.09817	2.94	1.48	-1.9	0.07665	.	1.401010	0.04101	N	0.312866	T	0.00073	0.0002	L	0.35723	1.085	0.80722	P	0.0	B	0.11235	0.004	B	0.09377	0.004	T	0.40534	-0.9558	9	0.52906	T	0.07	.	2.3209	0.04211	0.4402:0.2822:0.0:0.2776	.	380	O60810	PRAM4_HUMAN	I	380	ENSP00000235349:F380I	ENSP00000235349:F380I	F	-	1	0	PRAMEF4	12862251	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.237000	0.02922	-0.479000	0.06813	0.329000	0.21502	TTT	A|0.881;T|0.119	0.119	strong		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		T	12939664	A	T	12939664	3	4	22	1	0	0	0	0	1	0	0	0	12437	72	3	5	302	5	PRAMEF4	1	12939664	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18331	12939664	236310957	135	5243	104	2								
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12939674	12939674	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagctcaaagcagcggctCagggcaggcaagatggcgtt					rs28546260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12939674C>G	ENST00000235349.5	-	4	1198	c.1128G>C	c.(1126-1128)ctG>ctC	p.L376L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	376					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L376L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCGGCTCAGGGCAGGCA	0.498													c|||	579	0.115615	0.1362	0.1023	5008	,	,		20404	0.1399		0.1123	False		,,,				2504	0.0757				p.L376L		Atlas-SNP	.											PRAMEF4,NS,carcinoma,0,2	PRAMEF4	62	2	1	Substitution - coding silent(1)	prostate(1)	c.G1128C						scavenged	.	C		435,2561		63,309,1126	95	99	97		1128	1.5	0.5	1	dbSNP_130	97	620,4750		69,482,2134	no	coding-synonymous	PRAMEF4	NM_001009611.2		132,791,3260	GG,GC,CC		11.5456,14.5194,12.6106		376/479	12939674	1055,7311	1498	2685	4183	SO:0001819	synonymous_variant	400735	exon4			GCGGCTCAGGGCA		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1128G>C	1.37:g.12939674C>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	131	44	0.335878	NM_001009611	Q5LJB5	Silent	SNP	ENST00000235349.5	37	CCDS30592.1																																																																																			C|0.879;G|0.121	0.121	strong		0.498	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12939674	C	G	12939674	2	3	22	1	0	0	0	0	0	0	0	1	12437	813	29	4		4	PRAMEF4	1	12939674	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10	12939674	236310947	136	5244	104	2								
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12942961	12942961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagcagtgcatccagcccAtcgagcacagcttggaaggc	11	12	0	0	rs4625290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12942961A>C	ENST00000235349.5	-	2	325	c.255T>G	c.(253-255)gaT>gaG	p.D85E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	85			D -> E (in dbSNP:rs4625290).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCCCATCGAGCACAG	0.627													a|||	524	0.104633	0.0946	0.1009	5008	,	,		18029	0.1399		0.1133	False		,,,				2504	0.0757				p.D85E		Atlas-SNP	.											.	PRAMEF4	62	.	0			c.T255G						PASS	.	A	GLU/ASP	507,3873		62,383,1745	52	53	53		255	-1.3	0	1	dbSNP_111	53	999,7571		105,789,3391	no	missense	PRAMEF4	NM_001009611.2	45	167,1172,5136	CC,CA,AA		11.6569,11.5753,11.6293	benign	85/479	12942961	1506,11444	2190	4285	6475	SO:0001583	missense	400735	exon2			CAGCCCATCGAGC		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.255T>G	1.37:g.12942961A>C	ENSP00000235349:p.Asp85Glu	Somatic	434	0	0		WXS	Illumina HiSeq	Phase_I	512	239	0.466797	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	217	0.09935897435897435	38	0.07723577235772358	32	0.08839779005524862	62	0.10839160839160839	85	0.11213720316622691	a	1.703	-0.501150	0.04261	0.115753	0.116569	ENSG00000243073	ENST00000235349	T	0.05199	3.48	1.48	-1.32	0.09201	.	0.744226	0.12606	N	0.454302	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.18871	0.023	T	0.46789	-0.9166	10	0.14656	T	0.56	.	1.5274	0.02528	0.4816:0.0:0.213:0.3054	rs4625290	85	O60810	PRAM4_HUMAN	E	85	ENSP00000235349:D85E	ENSP00000235349:D85E	D	-	3	2	PRAMEF4	12865548	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.665000	0.05286	-0.377000	0.07930	0.329000	0.21502	GAT	A|0.894;C|0.106	0.106	strong		0.627	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		C	12942961	A	C	12942961	3	2	22	1	0	0	0	0	1	0	0	0	12437	214	8	5	1193	5	PRAMEF4	1	12942961	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3287	12942961	236307660	137	5245										
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12943038	12943038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcggcggaagggccaggActgcaccatcagcttcaggg	17	11	2	0	rs3121081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12943038A>C	ENST00000235349.5	-	2	248	c.178T>G	c.(178-180)Tcc>Gcc	p.S60A		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	60					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGGCCAGGACTGCACCATC	0.597													N|||	1312	0.261981	0.4304	0.2118	5008	,	,		15162	0.1627		0.2336	False		,,,				2504	0.2014				p.S60A		Atlas-SNP	.											PRAMEF4,caecum,carcinoma,+1,1	PRAMEF4	62	1	0			c.T178G						scavenged	.						49	57	55					1																	12943038		2188	4269	6457	SO:0001583	missense	400735	exon2			GCCAGGACTGCAC		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.178T>G	1.37:g.12943038A>C	ENSP00000235349:p.Ser60Ala	Somatic	321	1	0.00311526		WXS	Illumina HiSeq	Phase_I	134	130	0.970149	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	323	0.1478937728937729	91	0.18495934959349594	51	0.1408839779005525	63	0.11013986013986014	118	0.15567282321899736	N	0.017	-1.493857	0.01009	.	.	ENSG00000243073	ENST00000235349	T	0.12569	2.67	1.48	1.48	0.22813	.	0.898344	0.09686	N	0.769021	T	0.00012	0.0000	N	0.00047	-2.43	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	9	0.02654	T	1	.	5.0346	0.14428	0.3518:0.6482:0.0:0.0	rs3121081	60	O60810	PRAM4_HUMAN	A	60	ENSP00000235349:S60A	ENSP00000235349:S60A	S	-	1	0	PRAMEF4	12865625	0.752000	0.28338	0.624000	0.29186	0.029000	0.11900	0.312000	0.19397	0.205000	0.20568	-0.503000	0.04515	TCC	A|0.852;C|0.148	0.148	strong		0.597	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		C	12943038	A	C	12943038	3	2	22	1	0	0	0	0	1	0	0	0	12437	275	10	5	1270	5	PRAMEF4	1	12943038	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	77	12943038	236307583	138	5246										
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12943200	12943200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggagtctgggtggagtccAgatgctcatcttcatgaatc	12	9	4	2	rs3121079		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:12943200A>G	ENST00000235349.5	-	2	86	c.16T>C	c.(16-18)Tgg>Cgg	p.W6R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	6					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAGTCCAGATGCTCATC	0.557																																					p.W6R		Atlas-SNP	.											.	PRAMEF4	62	.	0			c.T16C						PASS	.						125	135	132					1																	12943200		2179	4285	6464	SO:0001583	missense	400735	exon2			GAGTCCAGATGCT		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.16T>C	1.37:g.12943200A>G	ENSP00000235349:p.Trp6Arg	Somatic	320	1	0.003125		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.577187	0.00131	.	.	ENSG00000243073	ENST00000235349	T	0.04406	3.63	1.48	0.538	0.17150	.	2.863710	0.01212	N	0.007864	T	0.01870	0.0059	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40572	-0.9556	10	0.11794	T	0.64	.	4.0418	0.09755	0.4291:0.0:0.5709:0.0	rs3121079	6	O60810	PRAM4_HUMAN	R	6	ENSP00000235349:W6R	ENSP00000235349:W6R	W	-	1	0	PRAMEF4	12865787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.845000	0.01677	-0.151000	0.11176	-0.498000	0.04607	TGG	.	.	weak		0.557	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12943200	A	G	12943200	3	3	22	1	0	0	0	0	1	0	0	0	12437	188	7	3	1432	3	PRAMEF4	1	12943200	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	162	12943200	236307421	139	5247										
PDPN	10630	hgsc.bcm.edu	37	chr1	13910417	13910417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccacccctccggccccCccaccgtcgcgctcctccag	7	26	0	0	rs355025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:13910417C>T	ENST00000294489.6	+	1	458	c.117C>T	c.(115-117)ccC>ccT	p.P39P	PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000376057.4_Silent_p.P39P|PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000509009.1_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTCCGGCCCCCCCACCGTCGC	0.642													c|||	2820	0.563099	0.6293	0.4798	5008	,	,		11983	0.6577		0.329	False		,,,				2504	0.6759				p.P39P		Atlas-SNP	.											PDPN,NS,carcinoma,0,1	PDPN	44	1	0			c.C117T						PASS	.	C	,	2451,1947		691,1069,439	18	21	20		117,117	1.4	0	1	dbSNP_79	20	2817,5771		465,1887,1942	no	coding-synonymous,coding-synonymous	PDPN	NM_006474.4,NM_198389.2	,	1156,2956,2381	TT,TC,CC		32.8016,44.2701,40.5668	,	39/239,39/237	13910417	5268,7718	2199	4294	6493	SO:0001819	synonymous_variant	10630	exon1			GGCCCCCCCACCG	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.117C>T	1.37:g.13910417C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	124	67	0.540323	NM_006474		Silent	SNP	ENST00000294489.6	37	CCDS30602.1																																																																																			C|0.526;T|0.474	0.474	strong		0.642	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		T	13910417	C	T	13910417	2	4	22	1	0	0	0	0	0	0	0	1	11688	610	22	2		2	PDPN	1	13910417	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	967217	13910417	235340204	140	5248										
KAZ	23254	hgsc.bcm.edu	37	chr1	15438990	15438990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcctccagcgtcacgcggGcaggaaaggaggagaacagc	17	11	1	1	rs10803354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:15438990G>A	ENST00000376030.2	+	14	2410	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	706			A -> T (in dbSNP:rs10803354). {ECO:0000269|PubMed:14702039}.		keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CGTCACGCGGGCAGGAAAGGA	0.592													G|||	2214	0.442093	0.264	0.4438	5008	,	,		17210	0.6558		0.3966	False		,,,				2504	0.5082				p.A706T		Atlas-SNP	.											.	KAZN	57	.	0			c.G2116A						PASS	.	G	THR/ALA	1242,3164		170,902,1131	35	34	34		2116	3.6	1	1	dbSNP_120	34	3476,5118		700,2076,1521	yes	missense	KAZN	NM_201628.2	58	870,2978,2652	AA,AG,GG		40.4468,28.1888,36.2923	benign	706/776	15438990	4718,8282	2203	4297	6500	SO:0001583	missense	23254	exon14			ACGCGGGCAGGAA	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2116G>A	1.37:g.15438990G>A	ENSP00000365198:p.Ala706Thr	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	267	265	0.992509	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	998	0.45695970695970695	125	0.2540650406504065	159	0.43922651933701656	398	0.6958041958041958	316	0.41688654353562005	G	12.78	2.040317	0.35989	0.281888	0.404468	ENSG00000189337	ENST00000376030	T	0.18016	2.24	5.52	3.61	0.41365	.	0.444427	0.19276	N	0.118277	T	0.00012	0.0000	N	0.14661	0.345	0.09310	P	0.9999999999295361	B	0.06786	0.001	B	0.06405	0.002	T	0.21177	-1.0253	9	0.39692	T	0.17	-8.9263	6.3791	0.21523	0.1032:0.2411:0.6557:0.0	rs10803354;rs56962621;rs10803354	706	Q674X7	KAZRN_HUMAN	T	706	ENSP00000365198:A706T	ENSP00000365198:A706T	A	+	1	0	KAZN	15311577	0.998000	0.40836	0.965000	0.40720	0.662000	0.39071	1.505000	0.35736	1.333000	0.45449	0.650000	0.86243	GCA	G|0.601;A|0.399	0.399	strong		0.592	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		A	15438990	G	A	15438990	3	1	22	1	0	0	0	0	1	0	0	0	7988	1203	42	2	2426	2	KAZ	1	15438990	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1528573	15438990	233811631	141	5249										
CTRC	11330	hgsc.bcm.edu	37	chr1	15767036	15767036	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtggaggcatacgtgtggCgggactttgattgctagcaa	15	7	0	1	rs497078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:15767036C>A	ENST00000375949.4	+	3	206	c.180C>A	c.(178-180)ggC>ggA	p.G60G	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	60	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATACGTGTGGCGGGACTTTGA	0.627													C|||	90	0.0179712	0.0651	0.0058	5008	,	,		14713	0.0		0.0	False		,,,				2504	0.0				p.G60G		Atlas-SNP	.											.	CTRC	28	.	0			c.C180A						PASS	.						144	95	111					1																	15767036		2203	4300	6503	SO:0001819	synonymous_variant	11330	exon3			GTGTGGCGGGACT	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.180C>A	1.37:g.15767036C>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	108	40	0.37037	NM_007272	A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	CCDS156.1																																																																																			A|0.000;C|0.887;T|0.113	0.000	strong		0.627	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		A	15767036	C	A	15767036	2	1	22	1	0	0	0	0	0	0	0	1	4027	755	27	4		4	CTRC	1	15767036	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	328046	15767036	233483585	142	5250										
CELA2B	51032	hgsc.bcm.edu	37	chr1	15808767	15808767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctttctcccagctcctccGggatctaccgcgtgatgctg	9	17	2	1	rs3820071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:15808767G>A	ENST00000375910.3	+	4	260	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3820071). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CAGCTCCTCCGGGATCTACCG	0.567													G|||	1635	0.326478	0.2776	0.3473	5008	,	,		14119	0.5685		0.2416	False		,,,				2504	0.2157				p.G79R		Atlas-SNP	.											CELA2B_ENST00000422901,NS,carcinoma,-1,6	CELA2B	37	6	0			c.G235A						scavenged	.	G	ARG/GLY	1149,3257	407.5+/-334.3	143,863,1197	61	62	62		235	-6.2	0.2	1	dbSNP_107	62	2113,6487	363.2+/-333.1	270,1573,2457	yes	missense	CELA2B	NM_015849.2	125	413,2436,3654	AA,AG,GG		24.5698,26.0781,25.0807	benign	79/270	15808767	3262,9744	2203	4300	6503	SO:0001583	missense	51032	exon4			TCCTCCGGGATCT		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.235G>A	1.37:g.15808767G>A	ENSP00000365075:p.Gly79Arg	Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	114	72	0.631579	NM_015849	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	741	0.3392857142857143	121	0.2459349593495935	112	0.30939226519337015	311	0.5437062937062938	197	0.2598944591029024	G	0	-2.798414	0.00076	0.260781	0.245698	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.90261	-2.35;-2.64	3.08	-6.17	0.02091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.574111	0.15655	N	0.251153	T	0.00012	0.0000	N	0.12887	0.27	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41484	-0.9506	9	0.02654	T	1	.	0.8149	0.01100	0.2489:0.3212:0.1134:0.3166	rs3820071;rs17214904;rs52801345;rs59821889;rs3820071	79	P08218	CEL2B_HUMAN	R	79;86;98	ENSP00000365075:G79R;ENSP00000399811:G98R	ENSP00000365074:G86R	G	+	1	0	CELA2B	15681354	0.000000	0.05858	0.173000	0.22940	0.003000	0.03518	-1.849000	0.01672	-0.954000	0.03640	-2.217000	0.00297	GGG	G|0.706;A|0.294	0.294	strong		0.567	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15808767	G	A	15808767	3	1	22	1	0	0	0	0	1	0	0	0	3212	1116	39	1	249	1	CELA2B	1	15808767	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41731	15808767	233441854	143	5251										
CELA2B	51032	hgsc.bcm.edu	37	chr1	15808872	15808872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacaaggactggaactccGaccaggtctccaaagggttc	11	12	1	0	rs3766160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:15808872G>A	ENST00000375910.3	+	4	365	c.340G>A	c.(340-342)Gac>Aac	p.D114N	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in dbSNP:rs3766160). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGAACTCCGACCAGGTCTC	0.572													G|||	1578	0.315096	0.2769	0.2896	5008	,	,		16447	0.5575		0.2376	False		,,,				2504	0.2147				p.D114N		Atlas-SNP	.											.	CELA2B	37	.	0			c.G340A						PASS	.	G	ASN/ASP	1151,3255	409.7+/-335.1	143,865,1195	117	114	115		340	0.5	0.1	1	dbSNP_107	115	2111,6489	363.7+/-333.3	269,1573,2458	yes	missense	CELA2B	NM_015849.2	23	412,2438,3653	AA,AG,GG		24.5465,26.1235,25.0807	benign	114/270	15808872	3262,9744	2203	4300	6503	SO:0001583	missense	51032	exon4			AACTCCGACCAGG		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.340G>A	1.37:g.15808872G>A	ENSP00000365075:p.Asp114Asn	Somatic	232	1	0.00431034		WXS	Illumina HiSeq	Phase_I	192	96	0.5	NM_015849	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	701	0.320970695970696	118	0.23983739837398374	85	0.23480662983425415	305	0.5332167832167832	193	0.2546174142480211	G	0.134	-1.110469	0.01813	0.261235	0.245465	ENSG00000215704	ENST00000375910	D	0.88818	-2.43	3.01	0.469	0.16741	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.623510	0.03801	N	0.264463	T	0.00012	0.0000	N	0.04959	-0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.02654	T	1	.	3.9956	0.09556	0.6422:0.2254:0.1324:0.0	rs3766160;rs52831934;rs61093493;rs3766160	114	P08218	CEL2B_HUMAN	N	114	ENSP00000365075:D114N	ENSP00000365075:D114N	D	+	1	0	CELA2B	15681459	0.000000	0.05858	0.073000	0.20177	0.080000	0.17528	0.067000	0.14510	-0.020000	0.14032	-0.532000	0.04303	GAC	G|0.715;A|0.285	0.285	strong		0.572	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15808872	G	A	15808872	3	1	22	1	0	0	0	0	1	0	0	0	3212	1058	37	1	354	1	CELA2B	1	15808872	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	105	15808872	233441749	144	5252										
CELA2B	51032	hgsc.bcm.edu	37	chr1	15809876	15809876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactacccctgctacgtcacGggctggggaaggctgcagag	14	12	1	1	rs10927792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:15809876G>A	ENST00000375910.3	+	5	499	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GCTACGTCACGGGCTGGGGAA	0.642													G|||	1734	0.346246	0.348	0.3545	5008	,	,		19203	0.5694		0.2416	False		,,,				2504	0.2157				p.T158T		Atlas-SNP	.											.	CELA2B	37	.	0			c.G474A						PASS	.	G		1419,2987	463.6+/-353.6	220,979,1004	70	64	66		474	-7.6	0.2	1	dbSNP_120	66	2111,6483	361.5+/-332.4	270,1571,2456	no	coding-synonymous	CELA2B	NM_015849.2		490,2550,3460	AA,AG,GG		24.5636,32.2061,27.1538		158/270	15809876	3530,9470	2203	4297	6500	SO:0001819	synonymous_variant	51032	exon5			CGTCACGGGCTGG		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.474G>A	1.37:g.15809876G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	143	62	0.433566	NM_015849	Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	CCDS30605.1																																																																																			G|0.250;A|0.750	0.750	weak		0.642	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15809876	G	A	15809876	2	1	22	1	0	0	0	0	0	0	0	1	3212	1103	39	1		1	CELA2B	1	15809876	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1004	15809876	233440745	145	5253										
TMEM82	388595	hgsc.bcm.edu	37	chr1	16069664	16069664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagttctccctccgggccgTgtccacgctgctgtccctgg	12	17	1	0	rs61740067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16069664T>C	ENST00000375782.1	+	3	449	c.311T>C	c.(310-312)gTg>gCg	p.V104A	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	104	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCGGGCCGTGTCCACGCTG	0.701													T|||	115	0.0229633	0.0817	0.0101	5008	,	,		13676	0.0		0.0	False		,,,				2504	0.0				p.V104A		Atlas-SNP	.											.	TMEM82	30	.	0			c.T311C						PASS	.	T	ALA/VAL	248,4156	138.4+/-174.2	7,234,1961	39	37	38		311	4.4	0.8	1	dbSNP_129	38	0,8594		0,0,4297	yes	missense	TMEM82	NM_001013641.1	64	7,234,6258	CC,CT,TT		0.0,5.6312,1.908	benign	104/344	16069664	248,12750	2202	4297	6499	SO:0001583	missense	388595	exon3			GGGCCGTGTCCAC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.311T>C	1.37:g.16069664T>C	ENSP00000364938:p.Val104Ala	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	80	29	0.3625	NM_001013641	B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	CCDS30608.1	53	0.024267399267399268	48	0.0975609756097561	5	0.013812154696132596	0	0.0	0	0.0	T	18.43	3.622000	0.66787	0.056312	0.0	ENSG00000162460	ENST00000375782	T	0.57595	0.39	4.44	4.44	0.53790	.	0.248154	0.34002	N	0.004349	T	0.01976	0.0062	M	0.72894	2.215	0.32890	D	0.511731	P	0.49559	0.925	B	0.38264	0.269	T	0.49370	-0.8947	10	0.66056	D	0.02	-21.6084	13.99	0.64359	0.0:0.0:0.0:1.0	rs61740067	104	A0PJX8	TMM82_HUMAN	A	104	ENSP00000364938:V104A	ENSP00000364938:V104A	V	+	2	0	TMEM82	15942251	0.731000	0.28111	0.774000	0.31636	0.905000	0.53344	3.834000	0.55798	1.763000	0.52060	0.459000	0.35465	GTG	T|0.982;C|0.018	0.018	strong		0.701	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		C	16069664	T	C	16069664	3	2	22	1	0	0	0	0	1	0	0	0	16203	1696	59	2	321	2	TMEM82	1	16069664	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	259788	16069664	233180957	146	5254										
FBLIM1	54751	hgsc.bcm.edu	37	chr1	16091700	16091700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctgcagccacagtgccGgctgcacctatgcagctctt	11	14	1	1	rs61733331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16091700G>A	ENST00000375766.3	+	3	862	c.222G>A	c.(220-222)ccG>ccA	p.P74P	FBLIM1_ENST00000332305.5_Silent_p.P74P|FBLIM1_ENST00000375771.1_Silent_p.P74P|FBLIM1_ENST00000441801.2_Silent_p.P74P|FBLIM1_ENST00000400773.1_Silent_p.P74P	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	74	Intrinsically disordered.|Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCACAGTGCCGGCTGCACCTA	0.662													A|||	84	0.0167732	0.0477	0.0043	5008	,	,		13729	0.0069		0.002	False		,,,				2504	0.0092				p.P74P		Atlas-SNP	.											.	FBLIM1	46	.	0			c.G222A						PASS	.	A	,,	157,4227		2,153,2037	21	24	23		222,222,222	-2.8	0	1	dbSNP_129	23	18,8566		0,18,4274	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLIM1	NM_001024215.1,NM_001024216.1,NM_017556.2	,,	2,171,6311	AA,AG,GG		0.2097,3.5812,1.3495	,,	74/375,74/277,74/374	16091700	175,12793	2192	4292	6484	SO:0001819	synonymous_variant	54751	exon2			AGTGCCGGCTGCA		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.222G>A	1.37:g.16091700G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	123	67	0.544715	NM_001024215	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	CCDS163.1																																																																																			G|0.988;A|0.012	0.012	strong		0.662	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		A	16091700	G	A	16091700	2	1	22	1	0	0	0	0	0	0	0	1	5697	1103	39	1		1	FBLIM1	1	16091700	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22036	16091700	233158921	147	5255										
SPEN	23013	hgsc.bcm.edu	37	chr1	16255644	16255644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaagcctgagcagcctgCagatggggtaagtgctgtgg	15	10	1	2	rs848208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16255644C>T	ENST00000375759.3	+	11	3113	c.2909C>T	c.(2908-2910)gCa>gTa	p.A970V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	970			A -> V (in dbSNP:rs848208).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCAGCCTGCAGATGGGGTA	0.488													C|||	605	0.120807	0.0212	0.2392	5008	,	,		18453	0.2222		0.0984	False		,,,				2504	0.09				p.A970V		Atlas-SNP	.											.	SPEN	374	.	0			c.C2909T						PASS	.	C	VAL/ALA	182,4224	112.1+/-150.2	6,170,2027	52	59	57		2909	3.6	0	1	dbSNP_86	57	870,7730	196.1+/-241.1	47,776,3477	yes	missense	SPEN	NM_015001.2	64	53,946,5504	TT,TC,CC		10.1163,4.1307,8.0886	benign	970/3665	16255644	1052,11954	2203	4300	6503	SO:0001583	missense	23013	exon11			AGCCTGCAGATGG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2909C>T	1.37:g.16255644C>T	ENSP00000364912:p.Ala970Val	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	79	36	0.455696	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	308	0.14102564102564102	14	0.028455284552845527	79	0.21823204419889503	134	0.23426573426573427	81	0.10686015831134564	C	0.047	-1.261392	0.01445	0.041307	0.101163	ENSG00000065526	ENST00000375759	T	0.52754	0.65	5.5	3.64	0.41730	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.12630	0.006	B	0.10450	0.005	T	0.10451	-1.0629	8	0.31617	T	0.26	-4.831	8.8436	0.35157	0.0:0.7413:0.1231:0.1356	rs848208;rs1628610;rs52836456;rs60485173;rs848208	970	Q96T58	MINT_HUMAN	V	970	ENSP00000364912:A970V	ENSP00000364912:A970V	A	+	2	0	SPEN	16128231	0.000000	0.05858	0.014000	0.15608	0.004000	0.04260	0.584000	0.23864	0.889000	0.36185	0.655000	0.94253	GCA	C|0.896;T|0.104	0.104	strong		0.488	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16255644	C	T	16255644	3	4	22	1	0	0	0	0	1	0	0	0	15037	710	25	2	2951	2	SPEN	1	16255644	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	163944	16255644	232994977	148	5256										
SPEN	23013	hgsc.bcm.edu	37	chr1	16260916	16260916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccaggcacagtcaatgcCgctgcgagtgcagtgaatgc	13	13	1	1	rs848211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16260916C>T	ENST00000375759.3	+	11	8385	c.8181C>T	c.(8179-8181)gcC>gcT	p.A2727A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2727	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGTCAATGCCGCTGCGAGTG	0.592													C|||	607	0.121206	0.0212	0.2406	5008	,	,		19485	0.2232		0.0984	False		,,,				2504	0.09				p.A2727A		Atlas-SNP	.											SPEN,NS,carcinoma,+1,1	SPEN	374	1	0			c.C8181T						PASS	.	C		189,4217	119.2+/-156.9	6,177,2020	79	75	76		8181	-5.5	0	1	dbSNP_86	76	870,7730	197.6+/-242.2	47,776,3477	no	coding-synonymous	SPEN	NM_015001.2		53,953,5497	TT,TC,CC		10.1163,4.2896,8.1424		2727/3665	16260916	1059,11947	2203	4300	6503	SO:0001819	synonymous_variant	23013	exon11			CAATGCCGCTGCG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8181C>T	1.37:g.16260916C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	25	0.362319	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			C|0.897;T|0.103	0.103	strong		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16260916	C	T	16260916	2	4	22	1	0	0	0	0	0	0	0	1	15037	639	23	1		1	SPEN	1	16260916	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5272	16260916	232989705	149	5257										
SPEN	23013	hgsc.bcm.edu	37	chr1	16262404	16262404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaaggtgccaccagccagCaaggcccctcagcagccagg	13	15	1	1	rs61749277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16262404C>T	ENST00000375759.3	+	11	9873	c.9669C>T	c.(9667-9669)agC>agT	p.S3223S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3223	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACCAGCCAGCAAGGCCCCTC	0.667													C|||	607	0.121206	0.0212	0.2392	5008	,	,		10601	0.2242		0.0984	False		,,,				2504	0.09				p.S3223S		Atlas-SNP	.											.	SPEN	374	.	0			c.C9669T						PASS	.	C		169,4229		5,159,2035	28	30	29		9669	5.1	1	1	dbSNP_129	29	820,7756		41,738,3509	no	coding-synonymous	SPEN	NM_015001.2		46,897,5544	TT,TC,CC		9.5616,3.8427,7.6229		3223/3665	16262404	989,11985	2199	4288	6487	SO:0001819	synonymous_variant	23013	exon11			AGCCAGCAAGGCC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9669C>T	1.37:g.16262404C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	108	49	0.453704	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			C|0.902;G|0.000;T|0.098	0.098	strong		0.667	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16262404	C	T	16262404	2	4	22	1	0	0	0	0	0	0	0	1	15037	709	25	2		2	SPEN	1	16262404	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1488	16262404	232988217	150	5258										
C1orf64	149563	hgsc.bcm.edu	37	chr1	16330816	16330816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcatggccccgtcagaagaCcccagggactggagagccaa	13	14	1	3	rs1763617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16330816C>T	ENST00000329454.2	+	1	86	c.18C>T	c.(16-18)gaC>gaT	p.D6D	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	6										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCAGAAGACCCCAGGGACT	0.642													C|||	977	0.195088	0.1369	0.2089	5008	,	,		15718	0.2917		0.1581	False		,,,				2504	0.2025				p.D6D		Atlas-SNP	.											.	C1orf64	16	.	0			c.C18T						PASS	.	C		662,3732		51,560,1586	39	37	37		18	2	0	1	dbSNP_89	37	1253,7331		89,1075,3128	no	coding-synonymous	C1orf64	NM_178840.2		140,1635,4714	TT,TC,CC		14.5969,15.066,14.7557		6/170	16330816	1915,11063	2197	4292	6489	SO:0001819	synonymous_variant	149563	exon1			AGAAGACCCCAGG	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"ER-related factor"					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.18C>T	1.37:g.16330816C>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	233	116	0.497854	NM_178840	B3KXI9	Silent	SNP	ENST00000329454.2	37	CCDS166.1																																																																																			C|0.835;T|0.165	0.165	strong		0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		T	16330816	C	T	16330816	2	4	22	1	0	0	0	0	0	0	0	1	2054	506	18	2		2	C1orf64	1	16330816	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68412	16330816	232919805	151	5259										
C1orf64	149563	hgsc.bcm.edu	37	chr1	16332679	16332679	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgctctgcagagggtcTgtggcctcagcttccttccc	11	16	3	1	rs3738646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16332679T>C	ENST00000329454.2	+	2	416	c.348T>C	c.(346-348)tcT>tcC	p.S116S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	116										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGGTCTGTGGCCTCAG	0.647													T|||	455	0.0908546	0.0129	0.1455	5008	,	,		18258	0.2113		0.0835	False		,,,				2504	0.0409				p.S116S		Atlas-SNP	.											.	C1orf64	16	.	0			c.T348C						PASS	.	T		138,4268	96.7+/-135.4	2,134,2067	44	47	46		348	-4.8	0	1	dbSNP_107	46	743,7857	178.3+/-227.7	32,679,3589	no	coding-synonymous	C1orf64	NM_178840.2		34,813,5656	CC,CT,TT		8.6395,3.1321,6.7738		116/170	16332679	881,12125	2203	4300	6503	SO:0001819	synonymous_variant	149563	exon2			AGGGTCTGTGGCC	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"ER-related factor"					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.348T>C	1.37:g.16332679T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	106	51	0.481132	NM_178840	B3KXI9	Silent	SNP	ENST00000329454.2	37	CCDS166.1																																																																																			T|0.916;C|0.084	0.084	strong		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		C	16332679	T	C	16332679	2	2	22	1	0	0	0	0	0	0	0	1	2054	1567	55	3		3	C1orf64	1	16332679	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1863	16332679	232917942	152	5260										
CLCNKA	1187	hgsc.bcm.edu	37	chr1	16354394	16354394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatcttcttttttgtggCgctggggtgagtgggtgcct	16	6	2	2	rs200268763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16354394C>T	ENST00000331433.4	+	9	879	c.860C>T	c.(859-861)gCg>gTg	p.A287V	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A287V|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A287V|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A244V			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	287			A -> V (in dbSNP:rs34188929).		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTTTTTGTGGCGCTGGGGTGA	0.612													C|||	87	0.0173722	0.0363	0.0029	5008	,	,		18143	0.0347		0.0	False		,,,				2504	0.002				p.A287V		Atlas-SNP	.											CLCNKA,NS,carcinoma,+1,1	CLCNKA	56	1	0			c.C860T						scavenged	.						63	57	59					1																	16354394		2202	4277	6479	SO:0001583	missense	1187	exon9			TTGTGGCGCTGGG		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.860C>T	1.37:g.16354394C>T	ENSP00000332771:p.Ala287Val	Somatic	702	85	0.121083		WXS	Illumina HiSeq	Phase_I	708	399	0.563559	NM_004070	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	85	0.03891941391941392	21	0.042682926829268296	1	0.0027624309392265192	32	0.055944055944055944	31	0.040897097625329816	C	0.012	-1.662340	0.00772	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	3.3	-2.47	0.06442	Chloride channel, core (2);	0.863417	0.10401	N	0.679201	T	0.41050	0.1142	N	0.16166	0.38	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.58381	-0.7646	10	0.07030	T	0.85	.	9.3698	0.38248	0.0:0.1918:0.0:0.8082	.	244;287;287	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	V	287;287;244;287	ENSP00000364844:A287V;ENSP00000410353:A287V;ENSP00000414445:A244V;ENSP00000332771:A287V	ENSP00000332771:A287V	A	+	2	0	CLCNKA	16226981	0.000000	0.05858	0.054000	0.19295	0.085000	0.17905	0.478000	0.22212	-0.479000	0.06813	-0.657000	0.03884	GCG	C|0.240;T|0.760	0.760	strong		0.612	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			T	16354394	C	T	16354394	3	4	22	1	0	0	0	0	1	0	0	0	3469	768	27	1	890	1	CLCNKA	1	16354394	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21715	16354394	232896227	153	5261										
CLCNKA	1187	hgsc.bcm.edu	37	chr1	16354590	16354590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcatcaagaccaatcggtAcagctccaaactgctggcta	7	13	2	1	rs12126269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16354590A>T	ENST00000331433.4	+	10	963	c.944A>T	c.(943-945)tAc>tTc	p.Y315F	CLCNKA_ENST00000420078.1_Missense_Mutation_p.Y315F|CLCNKA_ENST00000375692.1_Missense_Mutation_p.Y315F|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.Y272F			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	315			Y -> F (in dbSNP:rs12126269). {ECO:0000269|PubMed:15489334}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCAATCGGTACAGCTCCAAA	0.562													T|||	774	0.154553	0.1014	0.196	5008	,	,		16650	0.2123		0.1879	False		,,,				2504	0.1033				p.Y315F		Atlas-SNP	.											.	CLCNKA	56	.	0			c.A944T						PASS	.	T	PHE/TYR,PHE/TYR	587,3817	771.2+/-413.8	35,517,1650	160	124	136		944,944	2.2	0.1	1	dbSNP_120	136	1855,6745	729.7+/-406.7	221,1413,2666	yes	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	22,22	256,1930,4316	TT,TA,AA		21.5698,13.3288,18.7788	benign,benign	315/687,315/688	16354590	2442,10562	2202	4300	6502	SO:0001583	missense	1187	exon10			ATCGGTACAGCTC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.944A>T	1.37:g.16354590A>T	ENSP00000332771:p.Tyr315Phe	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	237	106	0.447257	NM_004070	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	398	0.18223443223443223	52	0.10569105691056911	70	0.19337016574585636	131	0.229020979020979	145	0.19129287598944592	T	0.587	-0.834613	0.02713	0.133288	0.215698	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.84370	-1.77;-1.77;-1.84;-1.77	3.3	2.18	0.27775	Chloride channel, core (2);	1.288350	0.05059	N	0.479536	T	0.00039	0.0001	N	0.01438	-0.865	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.09509	-1.0671	9	0.09843	T	0.71	.	4.9674	0.14098	0.1662:0.0997:0.0:0.7342	rs12126269;rs17846434;rs17857433;rs17859483;rs12126269	272;315;315	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	F	315;315;272;315	ENSP00000364844:Y315F;ENSP00000410353:Y315F;ENSP00000414445:Y272F;ENSP00000332771:Y315F	ENSP00000332771:Y315F	Y	+	2	0	CLCNKA	16227177	0.015000	0.18098	0.115000	0.21578	0.382000	0.30200	1.906000	0.39887	0.451000	0.26802	-0.827000	0.03088	TAC	A|0.809;T|0.191	0.191	strong		0.562	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			T	16354590	A	T	16354590	3	4	22	1	0	0	0	0	1	0	0	0	3469	391	14	5	978	5	CLCNKA	1	16354590	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	196	16354590	232896031	154	5262										
FAM131C	348487	hgsc.bcm.edu	37	chr1	16385131	16385131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagctgtcaggggaggggCtgggcgaggagaaggcctga	21	7	1	2	rs1832151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16385131C>A	ENST00000375662.4	-	7	827	c.644G>T	c.(643-645)aGc>aTc	p.S215I	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	215	Pro-rich.		S -> I (in dbSNP:rs1832151).							large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGGAGGGGCTGGGCGAGGA	0.677																																					p.S215I		Atlas-SNP	.											.	FAM131C	21	.	0			c.G644T						PASS	.						25	24	25					1																	16385131		2030	4181	6211	SO:0001583	missense	348487	exon7			GAGGGGCTGGGCG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.644G>T	1.37:g.16385131C>A	ENSP00000364814:p.Ser215Ile	Somatic	512	0	0		WXS	Illumina HiSeq	Phase_I	659	195	0.295903	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	376	0.17216117216117216	179	0.3638211382113821	57	0.1574585635359116	3	0.005244755244755245	137	0.18073878627968337	C	8.925	0.962089	0.18583	.	.	ENSG00000185519	ENST00000375662	T	0.13901	2.55	4.45	3.53	0.40419	.	0.518857	0.19640	N	0.109468	T	0.00012	0.0000	N	0.22421	0.69	0.45295	P	0.0017059999999999853	B	0.22983	0.078	B	0.19391	0.025	T	0.44772	-0.9306	9	0.52906	T	0.07	-7.2114	7.4371	0.27162	0.0:0.8818:0.0:0.1182	rs1832151;rs3961587	215	Q96AQ9	F131C_HUMAN	I	215	ENSP00000364814:S215I	ENSP00000364814:S215I	S	-	2	0	FAM131C	16257718	0.771000	0.28555	0.979000	0.43373	0.031000	0.12232	1.588000	0.36633	2.054000	0.61138	0.479000	0.44913	AGC	C|0.837;A|0.163	0.163	strong		0.677	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16385131	C	A	16385131	3	1	22	1	0	0	0	0	1	0	0	0	5441	797	28	4	202	4	FAM131C	1	16385131	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30541	16385131	232865490	155	5263										
EPHA2	1969	hgsc.bcm.edu	37	chr1	16459745	16459745	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgatgccggcctcgccGaggaagtccactcgctgctt	11	16	0	1	rs10907223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16459745G>A	ENST00000358432.5	-	11	2137	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	661	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CGGCCTCGCCGAGGAAGTCCA	0.607													g|||	965	0.192692	0.4849	0.0793	5008	,	,		17582	0.1071		0.0477	False		,,,				2504	0.1155				p.L661L		Atlas-SNP	.											.	EPHA2	102	.	0			c.C1983T						PASS	.	C		1770,2636	523.3+/-371.0	363,1044,796	87	80	82		1983	-1.5	1	1	dbSNP_120	82	328,8272	114.0+/-174.0	8,312,3980	no	coding-synonymous	EPHA2	NM_004431.3		371,1356,4776	AA,AG,GG		3.814,40.1725,16.131		661/977	16459745	2098,10908	2203	4300	6503	SO:0001819	synonymous_variant	1969	exon11			CTCGCCGAGGAAG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1983C>T	1.37:g.16459745G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	144	73	0.506944	NM_004431	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																			G|0.827;A|0.173	0.173	strong		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16459745	G	A	16459745	2	1	22	1	0	0	0	0	0	0	0	1	5167	1045	37	1		1	EPHA2	1	16459745	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74614	16459745	232790876	156	5264										
FBXO42	54455	hgsc.bcm.edu	37	chr1	16577908	16577908	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaggtcgtatccttcagGagcagatggagtacttggag	13	7	2	1	rs12069239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16577908G>C	ENST00000375592.3	-	10	1627	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	471			P -> A (in dbSNP:rs12069239). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TATCCTTCAGGAGCAGATGGA	0.488													C|||	1356	0.270767	0.4312	0.2133	5008	,	,		18995	0.1746		0.334	False		,,,				2504	0.1288				p.P471A		Atlas-SNP	.											.	FBXO42	53	.	0			c.C1411G						PASS	.	C	ALA/PRO	1864,2542	606.0+/-390.6	379,1106,718	43	48	46		1411	0.7	0.9	1	dbSNP_120	46	3084,5516	650.2+/-400.7	532,2020,1748	yes	missense	FBXO42	NM_018994.1	27	911,3126,2466	CC,CG,GG		35.8605,42.3059,38.044	benign	471/718	16577908	4948,8058	2203	4300	6503	SO:0001583	missense	54455	exon10			CTTCAGGAGCAGA	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1411C>G	1.37:g.16577908G>C	ENSP00000364742:p.Pro471Ala	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	185	185	1	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	652	0.29853479853479853	226	0.45934959349593496	90	0.24861878453038674	91	0.1590909090909091	245	0.3232189973614776	C	4.337	0.061879	0.08339	0.423059	0.358605	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.39406	3.68;1.08;1.08	5.51	0.736	0.18307	.	0.696895	0.14389	N	0.322664	T	0.00012	0.0000	N	0.08118	0	0.50813	P	1.0900000000002574E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.46386	-0.9195	9	0.12766	T	0.61	-1.4499	1.5643	0.02601	0.3635:0.3387:0.1141:0.1838	rs12069239;rs52791447;rs12069239	471	Q6P3S6	FBX42_HUMAN	A	471;189;189	ENSP00000364742:P471A;ENSP00000415663:P189A;ENSP00000412416:P189A	ENSP00000364742:P471A	P	-	1	0	FBXO42	16450495	0.013000	0.17824	0.937000	0.37676	0.989000	0.77384	0.097000	0.15168	-0.343000	0.08351	-0.127000	0.14921	CCT	G|0.654;C|0.346	0.346	strong		0.488	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			C	16577908	G	C	16577908	3	2	22	1	0	0	0	0	1	0	0	0	5751	1174	41	4	746	4	FBXO42	1	16577908	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118163	16577908	232672713	157	5265										
FBXO42	54455	hgsc.bcm.edu	37	chr1	16577948	16577948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatggcctgtacaggactGtccaaagaagagccacccac	10	12	0	2	rs61731119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16577948G>A	ENST00000375592.3	-	10	1587	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	457										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GTACAGGACTGTCCAAAGAAG	0.552													G|||	149	0.0297524	0.1074	0.0101	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.0				p.D457D		Atlas-SNP	.											.	FBXO42	53	.	0			c.C1371T						PASS	.	G		386,4020	179.7+/-208.2	17,352,1834	29	33	32		1371	5.5	1	1	dbSNP_129	32	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	FBXO42	NM_018994.1		17,356,6130	AA,AG,GG		0.0465,8.7608,2.9986		457/718	16577948	390,12616	2203	4300	6503	SO:0001819	synonymous_variant	54455	exon10			AGGACTGTCCAAA	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1371C>T	1.37:g.16577948G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	159	87	0.54717	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	CCDS30613.1																																																																																			G|0.973;A|0.027	0.027	strong		0.552	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			A	16577948	G	A	16577948	2	1	22	1	0	0	0	0	0	0	0	1	5751	1368	48	2		2	FBXO42	1	16577948	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40	16577948	232672673	158	5266										
SPATA21	374955	hgsc.bcm.edu	37	chr1	16727305	16727306	+	In_Frame_Ins	INS	-	-	CTT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggggttgtagggaagINScttctgcaaccgcagccggc					rs373005990|rs139527123|rs80260069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:16727305_16727306insCTT	ENST00000335496.1	-	11	1565_1566	c.1083_1084insAAG	c.(1081-1086)aagctt>aagAAGctt	p.361_362insK	SPATA21_ENST00000540400.1_In_Frame_Ins_p.338_339insK|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	361							calcium ion binding (GO:0005509)	p.K361_L362insK(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTGTAGGGAAGCTTCTGCAACC	0.589														497	0.0992412	0.2247	0.0836	5008	,	,		18406	0.001		0.1074	False		,,,				2504	0.0337				p.L362delinsKL		Pindel,Atlas-Indel	.											SPATA21,NS,carcinoma,+1,1	SPATA21	47	1	1	Insertion - In frame(1)	pancreas(1)	c.1084_1085insAAG						PASS	.			905,3361		92,721,1320						2	0.9		dbSNP_131	131	1044,7210		59,926,3142	no	coding	SPATA21	NM_198546.1		151,1647,4462	A1A1,A1R,RR		12.6484,21.2143,15.5671				1949,10571				SO:0001652	inframe_insertion	374955	exon11			.		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1081_1083dupAAG	1.37:g.16727306_16727308dupCTT	ENSP00000335612:p.Lys361_Lys361dup	Somatic	192	.	.		WXS	Illumina HiSeq	Phase_I	183	95	0.519	NM_198546	B9EK40|F5GXP5	In_Frame_Ins	INS	ENST00000335496.1	37	CCDS172.1																																																																																			-|0.888;CTT|0.112	0.112	strong		0.589	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		CTT	16727306	-	CTT	16727305	7	5	22	1	0	1	1	0	0	0	0	0	15006	971	34	0	337	0	SPATA21	1	16727305	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	149357	16727305	232523316	159	5267										
CROCC	9696	hgsc.bcm.edu	37	chr1	17250836	17250836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcctgctgccggccacAgagatggcatcgctgctgtc	12	15	0	1	rs57174186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17250836A>G	ENST00000375541.5	+	3	282	c.213A>G	c.(211-213)acA>acG	p.T71T	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGGCCACAGAGATGGCAT	0.657																																					p.T71T		Atlas-SNP	.											CROCC,NS,carcinoma,0,3	CROCC	185	3	0			c.A213G						PASS	.	G		1667,2739		0,1667,536	38	33	35		213	-7	0	1	dbSNP_129	35	2771,5827		0,2771,1528	no	coding-synonymous	CROCC	NM_014675.3		0,4438,2064	GG,GA,AA		32.2284,37.8348,34.128		71/2018	17250836	4438,8566	2203	4299	6502	SO:0001819	synonymous_variant	9696	exon3			GGCCACAGAGATG	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.213A>G	1.37:g.17250836A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	102	31	0.303922	NM_014675		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			A|0.638;G|0.362	0.362	strong		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		G	17250836	A	G	17250836	2	3	22	1	0	0	0	0	0	0	0	1	3893	175	7	3		3	CROCC	1	17250836	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	523531	17250836	231999785	160	5268										
CROCC	9696	hgsc.bcm.edu	37	chr1	17264920	17264920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcggctacaggagcaggCggccctggagacagaggatg	17	11	0	2	rs4463721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17264920C>T	ENST00000375541.5	+	11	1385	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A439V(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGGAGCAGGCGGCCCTGGAG	0.617																																					p.A439V		Atlas-SNP	.											CROCC,NS,carcinoma,0,3	CROCC	185	3	3	Substitution - Missense(3)	prostate(3)	c.C1316T						scavenged	.						19	16	17					1																	17264920		2174	4263	6437	SO:0001583	missense	9696	exon11			AGCAGGCGGCCCT	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1316C>T	1.37:g.17264920C>T	ENSP00000364691:p.Ala439Val	Somatic	293	1	0.00341297		WXS	Illumina HiSeq	Phase_I	464	145	0.3125	NM_014675		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	628	0.2875457875457875	134	0.27235772357723576	93	0.2569060773480663	201	0.3513986013986014	200	0.2638522427440633	C	12.64	1.997905	0.35226	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.12465	2.68	4.81	4.81	0.61882	.	.	.	.	.	T	0.00012	0.0000	L	0.41573	1.285	0.24969	N	0.991679	B;B;P	0.39022	0.003;0.017;0.655	B;B;B	0.31751	0.002;0.003;0.135	T	0.48525	-0.9028	9	0.12103	T	0.63	.	10.9447	0.47294	0.187:0.813:0.0:0.0	rs4463721;rs59602954	302;302;439	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	V	439;320	ENSP00000364691:A439V	ENSP00000364691:A439V	A	+	2	0	CROCC	17137507	0.006000	0.16342	0.535000	0.28026	0.666000	0.39218	-0.113000	0.10774	2.374000	0.81015	0.561000	0.74099	GCG	C|0.713;T|0.287	0.287	strong		0.617	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17264920	C	T	17264920	3	4	22	1	0	0	0	0	1	0	0	0	3893	768	27	1	1358	1	CROCC	1	17264920	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14084	17264920	231985701	161	5269										
CROCC	9696	hgsc.bcm.edu	37	chr1	17264939	17264939	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggccctggagacagaggaTggagaggggctacagcagac	18	9	0	4	rs4558023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17264939T>C	ENST00000375541.5	+	11	1404	c.1335T>C	c.(1333-1335)gaT>gaC	p.D445D	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.D445D(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGACAGAGGATGGAGAGGGGC	0.632																																					p.D445D		Atlas-SNP	.											CROCC,NS,carcinoma,0,1	CROCC	185	1	1	Substitution - coding silent(1)	prostate(1)	c.T1335C						scavenged	.						19	16	17					1																	17264939		2178	4273	6451	SO:0001819	synonymous_variant	9696	exon11			AGAGGATGGAGAG	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1335T>C	1.37:g.17264939T>C		Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	428	142	0.331776	NM_014675		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			T|0.699;C|0.301	0.301	strong		0.632	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		C	17264939	T	C	17264939	2	2	22	1	0	0	0	0	0	0	0	1	3893	1461	51	2		2	CROCC	1	17264939	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19	17264939	231985682	162	5270										
CROCC	9696	hgsc.bcm.edu	37	chr1	17270751	17270751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgcagtgcaggatggcgcGcgggtgcgccgggagcttga	20	10	0	1	rs12025984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17270751G>A	ENST00000375541.5	+	14	2034	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGATGGCGCGCGGGTGCGCC	0.711													g|||	1190	0.23762	0.0182	0.3242	5008	,	,		21546	0.4643		0.2495	False		,,,				2504	0.227				p.A655A		Atlas-SNP	.											.	CROCC	185	.	0			c.G1965A						PASS	.						8	6	7					1																	17270751		2084	4087	6171	SO:0001819	synonymous_variant	9696	exon14			TGGCGCGCGGGTG	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1965G>A	1.37:g.17270751G>A		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	18	5	0.277778	NM_014675		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			G|0.762;A|0.238	0.238	strong		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17270751	G	A	17270751	2	1	22	1	0	0	0	0	0	0	0	1	3893	1074	38	1		1	CROCC	1	17270751	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5812	17270751	231979870	163	5271										
CROCC	9696	hgsc.bcm.edu	37	chr1	17295764	17295764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcagtgccagcctcaacAgcacccgggacaagaacctg	11	14	1	2	rs56278097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17295764A>G	ENST00000375541.5	+	32	5299	c.5230A>G	c.(5230-5232)Agc>Ggc	p.S1744G		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGCCTCAACAGCACCCGGGA	0.662													A|||	471	0.0940495	0.2867	0.0403	5008	,	,		16898	0.001		0.0507	False		,,,				2504	0.0123				p.S1744G		Atlas-SNP	.											.	CROCC	185	.	0			c.A5230G						PASS	.	A	GLY/SER	951,3455	337.0+/-304.7	110,731,1362	27	29	29		5230	1.9	1	1	dbSNP_129	29	442,8158	127.0+/-185.4	7,428,3865	no	missense	CROCC	NM_014675.3	56	117,1159,5227	GG,GA,AA		5.1395,21.5842,10.7104	possibly-damaging	1744/2018	17295764	1393,11613	2203	4300	6503	SO:0001583	missense	9696	exon32			CTCAACAGCACCC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5230A>G	1.37:g.17295764A>G	ENSP00000364691:p.Ser1744Gly	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	260	123	0.473077	NM_014675		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	194	0.08882783882783883	139	0.28252032520325204	16	0.04419889502762431	0	0.0	39	0.051451187335092345	A	14.49	2.550629	0.45383	0.215842	0.051395	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11495	2.77	4.62	1.85	0.25348	.	.	.	.	.	T	0.00012	0.0000	L	0.60455	1.87	0.31354	P	0.6821699999999999	P;P;P	0.41188	0.672;0.544;0.741	P;B;B	0.45506	0.483;0.439;0.37	T	0.42531	-0.9446	8	0.34782	T	0.22	.	4.6643	0.12657	0.6908:0.0:0.1019:0.2073	rs56278097;rs61661078	1625;1047;1744	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	G	1744;1625	ENSP00000364691:S1744G	ENSP00000364691:S1744G	S	+	1	0	CROCC	17168351	0.018000	0.18449	0.995000	0.50966	0.969000	0.65631	1.184000	0.32053	0.742000	0.32697	0.402000	0.26972	AGC	A|0.901;G|0.099	0.099	strong		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		G	17295764	A	G	17295764	3	3	22	1	0	0	0	0	1	0	0	0	3893	188	7	3	5356	3	CROCC	1	17295764	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25013	17295764	231954857	164	5272										
ATP13A2	23400	hgsc.bcm.edu	37	chr1	17314702	17314702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtacttgaagacgctgaaCgaagtgtcaagggaacagcg	13	7	1	3	rs3738815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17314702C>T	ENST00000326735.8	-	25	2823	c.2790G>A	c.(2788-2790)tcG>tcA	p.S930S	ATP13A2_ENST00000341676.5_Silent_p.S886S|ATP13A2_ENST00000452699.1_Silent_p.S925S|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	930					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGACGCTGAACGAAGTGTCAA	0.607													C|||	1457	0.290935	0.1369	0.3429	5008	,	,		21211	0.5774		0.2058	False		,,,				2504	0.2546				p.S930S		Atlas-SNP	.											ATP13A2,NS,carcinoma,-1,1	ATP13A2	85	1	0			c.G2790A						scavenged	.	C	,,	659,3747	280.5+/-275.4	56,547,1600	142	127	132		2775,2658,2790	-11	0	1	dbSNP_107	132	1657,6943	305.7+/-307.6	145,1367,2788	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	201,1914,4388	TT,TC,CC		19.2674,14.9569,17.8072	,,	925/1176,886/1159,930/1181	17314702	2316,10690	2203	4300	6503	SO:0001819	synonymous_variant	23400	exon25			GCTGAACGAAGTG	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2790G>A	1.37:g.17314702C>T		Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	150	74	0.493333	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																			C|0.770;T|0.230	0.230	strong		0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17314702	C	T	17314702	2	4	22	1	0	0	0	0	0	0	0	1	1124	523	19	1		1	ATP13A2	1	17314702	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18938	17314702	231935919	165	5273										
PADI2	11240	hgsc.bcm.edu	37	chr1	17413127	17413127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccgcggagccacccgtGtacttgaccacatggtagag	12	13	0	2	rs35184728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17413127G>A	ENST00000375486.4	-	7	786	c.723C>T	c.(721-723)taC>taT	p.Y241Y	PADI2_ENST00000375481.1_Silent_p.Y241Y|PADI2_ENST00000444885.2_Missense_Mutation_p.T160I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	241					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCCACCCGTGTACTTGACCA	0.602													G|||	105	0.0209665	0.0635	0.0072	5008	,	,		17470	0.0159		0.0	False		,,,				2504	0.0				p.Y241Y		Atlas-SNP	.											PADI2,NS,malignant_melanoma,-1,1	PADI2	72	1	0			c.C723T						PASS	.	G		290,4116	159.2+/-191.8	8,274,1921	81	85	84		723	2.6	1	1	dbSNP_126	84	0,8600		0,0,4300	no	coding-synonymous	PADI2	NM_007365.2		8,274,6221	AA,AG,GG		0.0,6.5819,2.2297		241/666	17413127	290,12716	2203	4300	6503	SO:0001819	synonymous_variant	11240	exon7			ACCCGTGTACTTG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.723C>T	1.37:g.17413127G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	110	62	0.563636	NM_007365	Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	CCDS177.1	42	0.019230769230769232	28	0.056910569105691054	2	0.0055248618784530384	12	0.02097902097902098	0	0.0	G	11.73	1.726689	0.30593	0.065819	0.0	ENSG00000117115	ENST00000444885	T	0.05258	3.47	4.56	2.62	0.31277	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.24587	N	0.993841	B	0.02656	0.0	B	0.06405	0.002	T	0.45818	-0.9235	8	0.20519	T	0.43	-30.2651	8.7762	0.34762	0.2513:0.0:0.7487:0.0	rs35184728	160	B4DIU3	.	I	160	ENSP00000405894:T160I	ENSP00000405894:T160I	T	-	2	0	PADI2	17285714	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.058000	0.49939	1.124000	0.41980	0.460000	0.39030	ACA	G|0.976;A|0.024	0.024	strong		0.602	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			A	17413127	G	A	17413127	2	1	22	1	0	0	0	0	0	0	0	1	11378	1372	48	2		2	PADI2	1	17413127	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98425	17413127	231837494	166	5274										
PADI4	23569	hgsc.bcm.edu	37	chr1	17668508	17668508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcactacctgatggtcccCggtggaaagcacaacatgga	10	12	1	1	rs16825565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17668508C>T	ENST00000375448.4	+	7	749	c.723C>T	c.(721-723)ccC>ccT	p.P241P	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	241					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGATGGTCCCCGGTGGAAAGC	0.602													C|||	74	0.0147764	0.0537	0.0043	5008	,	,		17108	0.0		0.0	False		,,,				2504	0.0				p.P241P		Atlas-SNP	.											.	PADI4	70	.	0			c.C723T						PASS	.	C		190,4216	119.6+/-157.3	6,178,2019	85	78	81		723	-9.9	0	1	dbSNP_123	81	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PADI4	NM_012387.2		6,180,6317	TT,TC,CC		0.0233,4.3123,1.4762		241/664	17668508	192,12814	2203	4300	6503	SO:0001819	synonymous_variant	23569	exon7			GGTCCCCGGTGGA	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.723C>T	1.37:g.17668508C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	122	54	0.442623	NM_012387	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	CCDS180.1																																																																																			C|0.984;T|0.016	0.016	strong		0.602	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		T	17668508	C	T	17668508	2	4	22	1	0	0	0	0	0	0	0	1	11380	639	23	1		1	PADI4	1	17668508	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	255381	17668508	231582113	167	5275										
PADI6	353238	hgsc.bcm.edu	37	chr1	17727847	17727847	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatcaatgactttgactgTtacctgacagaggtcggaga	10	8	2	5	rs183565903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17727847T>C	ENST00000434762.2	+	0	2049							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACTTTGACTGTTACCTGACAG	0.552													T|||	4	0.000798722	0.0015	0.0029	5008	,	,		19527	0.0		0.0	False		,,,				2504	0.0				p.C666C		Atlas-SNP	.											.	PADI6	51	.	0			c.T1998C						PASS	.	T		5,3961		0,5,1978	60	64	63		1999	-1.8	0.9	1		63	0,8346		0,0,4173	no	coding-synonymous	PADI6	NM_207421.3		0,5,6151	CC,CT,TT		0.0,0.1261,0.0406		666/695	17727847	5,12307	1983	4173	6156			353238	exon17			TGACTGTTACCTG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727847T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	121	52	0.429752	NM_207421	Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37																																																																																				T|1.000;C|0.000	0.000	strong		0.552	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		C	17727847	T	C	17727847	1	2	22	0	1	0	0	0	0	0	0	0	11381	1731	60	2		2	PADI6	1	17727847	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	59339	17727847	231522774	168	5276										
RCC2	55920	hgsc.bcm.edu	37	chr1	17739586	17739586	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacccacaagccaggctccgGattctccagccgcagaggtc	10	16	1	1	rs942457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:17739586G>A	ENST00000375436.4	-	10	1483	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Silent_p.I432I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	432					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCAGGCTCCGGATTCTCCAGC	0.582													G|||	1657	0.330871	0.3661	0.3689	5008	,	,		17975	0.1647		0.3688	False		,,,				2504	0.3885				p.I432I		Atlas-SNP	.											.	RCC2	46	.	0			c.C1296T						PASS	.	G	,	1710,2696	512.6+/-368.1	351,1008,844	43	41	42		1296,1296	4.3	1	1	dbSNP_86	42	3022,5578	464.2+/-366.2	549,1924,1827	no	coding-synonymous,coding-synonymous	RCC2	NM_001136204.2,NM_018715.3	,	900,2932,2671	AA,AG,GG		35.1395,38.8107,36.3832	,	432/523,432/523	17739586	4732,8274	2203	4300	6503	SO:0001819	synonymous_variant	55920	exon9			GCTCCGGATTCTC		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1296C>T	1.37:g.17739586G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	236	110	0.466102	NM_001136204	Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	CCDS181.1																																																																																			G|0.657;A|0.343	0.343	strong		0.582	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		A	17739586	G	A	17739586	2	1	22	1	0	0	0	0	0	0	0	1	13174	1164	41	2		2	RCC2	1	17739586	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11739	17739586	231511035	169	5277										
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18807938	18807938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttggcagtaaccctgacCctccccatttcccccgcttg	7	18	0	1	rs2992754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:18807938C>A	ENST00000400664.1	+	1	515	c.463C>A	c.(463-465)Cct>Act	p.P155T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	155						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAACCCTGACCCTCCCCATTT	0.652													C|||	1336	0.266773	0.174	0.2464	5008	,	,		17697	0.623		0.1252	False		,,,				2504	0.1851				p.P155T		Atlas-SNP	.											.	KLHDC7A	60	.	0			c.C463A						PASS	.	C	THR/PRO	797,3361		75,647,1357	32	38	36		463	5.4	0	1	dbSNP_101	36	1208,7214		80,1048,3083	yes	missense	KLHDC7A	NM_152375.2	38	155,1695,4440	AA,AC,CC		14.3434,19.1679,15.938	benign	155/778	18807938	2005,10575	2079	4211	6290	SO:0001583	missense	127707	exon1			CCTGACCCTCCCC	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.463C>A	1.37:g.18807938C>A	ENSP00000383505:p.Pro155Thr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	83	82	0.987952	NM_152375	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	632	0.2893772893772894	95	0.19308943089430894	90	0.24861878453038674	355	0.6206293706293706	92	0.12137203166226913	C	15.27	2.784993	0.49997	0.191679	0.143434	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.74421	-0.84	5.4	5.4	0.78164	.	2.160560	0.03659	U	0.242324	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.44877	0.845	B	0.43478	0.421	T	0.33879	-0.9851	9	0.18710	T	0.47	.	16.2414	0.82409	0.0:1.0:0.0:0.0	rs2992754	155	Q5VTJ3	KLD7A_HUMAN	T	155;92	ENSP00000383505:P155T	ENSP00000383505:P155T	P	+	1	0	KLHDC7A	18680525	0.005000	0.15991	0.023000	0.16930	0.269000	0.26545	2.052000	0.41316	2.680000	0.91292	0.591000	0.81541	CCT	C|0.770;A|0.230	0.230	strong		0.652	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18807938	C	A	18807938	3	1	22	1	0	0	0	0	1	0	0	0	8360	623	22	4	465	4	KLHDC7A	1	18807938	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1068352	18807938	230442683	170	5278										
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18808292	18808292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgcgtccgaatggaggagCatttcatacagaaggcggag	14	10	1	1	rs372156529|rs2992753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:18808292C>A	ENST00000400664.1	+	1	869	c.817C>A	c.(817-819)Cat>Aat	p.H273N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	273			H -> N (in dbSNP:rs2992753). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATGGAGGAGCATTTCATACA	0.592													A|||	3370	0.672923	0.6604	0.7277	5008	,	,		19405	0.8958		0.6113	False		,,,				2504	0.4847				p.H273N		Atlas-SNP	.											.	KLHDC7A	60	.	0			c.C817A						PASS	.	A	ASN/HIS	2930,1476	471.8+/-356.2	967,996,240	79	82	81		817	4.9	0.6	1	dbSNP_101	81	5407,3193	479.0+/-370.0	1697,2013,590	yes	missense	KLHDC7A	NM_152375.2	68	2664,3009,830	AA,AC,CC		37.1279,33.4998,35.8988	benign	273/778	18808292	8337,4669	2203	4300	6503	SO:0001583	missense	127707	exon1			GAGGAGCATTTCA	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.817C>A	1.37:g.18808292C>A	ENSP00000383505:p.His273Asn	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_152375	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	1574	0.7206959706959707	330	0.6707317073170732	254	0.7016574585635359	523	0.9143356643356644	467	0.6160949868073878	A	0.017	-1.498345	0.01001	0.665002	0.628721	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.68181	-0.31	4.92	4.92	0.64577	.	0.547006	0.17223	N	0.182256	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	9	0.02654	T	1	.	10.5437	0.45047	0.6915:0.3085:0.0:0.0	rs2992753;rs58143972;rs2992753	273	Q5VTJ3	KLD7A_HUMAN	N	273;210	ENSP00000383505:H273N	ENSP00000383505:H273N	H	+	1	0	KLHDC7A	18680879	0.998000	0.40836	0.650000	0.29550	0.277000	0.26821	2.560000	0.45896	0.717000	0.32145	-0.824000	0.03097	CAT	C|0.325;A|0.675	0.675	strong		0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18808292	C	A	18808292	3	1	22	1	0	0	0	0	1	0	0	0	8360	710	25	4	819	4	KLHDC7A	1	18808292	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	354	18808292	230442329	171	5279										
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18808465	18808465	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtccctgggaacaggggcTgcctcgggaggccaagccgg	19	12	0	0	rs3007718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:18808465T>A	ENST00000400664.1	+	1	1042	c.990T>A	c.(988-990)gcT>gcA	p.A330A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	330						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGGGGCTGCCTCGGGAG	0.692													A|||	3369	0.672724	0.6611	0.7277	5008	,	,		13211	0.8948		0.6113	False		,,,				2504	0.4836				p.A330A		Atlas-SNP	.											.	KLHDC7A	60	.	0			c.T990A						PASS	.	A		2912,1478		987,938,270	15	18	17		990	-3.7	0	1	dbSNP_101	17	5388,3184		1724,1940,622	no	coding-synonymous	KLHDC7A	NM_152375.2		2711,2878,892	AA,AT,TT		37.1442,33.6674,35.9667		330/778	18808465	8300,4662	2195	4286	6481	SO:0001819	synonymous_variant	127707	exon1			AGGGGCTGCCTCG	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.990T>A	1.37:g.18808465T>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_152375	Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																			T|0.328;A|0.672	0.672	strong		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18808465	T	A	18808465	2	1	22	1	0	0	0	0	0	0	0	1	8360	1567	55	5		5	KLHDC7A	1	18808465	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173	18808465	230442156	172	5280										
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18808526	18808526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagagccgcctccccgcagAcagggccgtggccctccacc	11	19	0	2	rs2992752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:18808526A>C	ENST00000400664.1	+	1	1103	c.1051A>C	c.(1051-1053)Aca>Cca	p.T351P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	351			T -> P (in dbSNP:rs2992752). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCGCAGACAGGGCCGTG	0.677													C|||	3369	0.672724	0.6611	0.7277	5008	,	,		15380	0.8948		0.6113	False		,,,				2504	0.4836				p.T351P		Atlas-SNP	.											KLHDC7A,NS,carcinoma,0,1	KLHDC7A	60	1	0			c.A1051C						scavenged	.	C	PRO/THR	2798,1418		971,856,281	12	16	15		1051	0.7	0	1	dbSNP_101	15	5294,3114		1724,1846,634	yes	missense	KLHDC7A	NM_152375.2	38	2695,2702,915	CC,CA,AA		37.0362,33.6338,35.8999	benign	351/778	18808526	8092,4532	2108	4204	6312	SO:0001583	missense	127707	exon1			CCGCAGACAGGGC	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1051A>C	1.37:g.18808526A>C	ENSP00000383505:p.Thr351Pro	Somatic	54	1	0.0185185		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_152375	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	1574	0.7206959706959707	330	0.6707317073170732	254	0.7016574585635359	523	0.9143356643356644	467	0.6160949868073878	C	0.317	-0.963986	0.02249	0.663662	0.629638	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.71461	-0.57	5.01	0.69	0.18039	.	1.313680	0.05153	N	0.496434	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	.	3.8663	0.09018	0.4101:0.3546:0.0:0.2353	rs2992752;rs58275241	351	Q5VTJ3	KLD7A_HUMAN	P	351;288	ENSP00000383505:T351P	ENSP00000383505:T351P	T	+	1	0	KLHDC7A	18681113	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.198000	0.03035	-0.075000	0.12798	-1.961000	0.00478	ACA	A|0.310;C|0.690	0.690	strong		0.677	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		C	18808526	A	C	18808526	3	2	22	1	0	0	0	0	1	0	0	0	8360	275	10	5	1053	5	KLHDC7A	1	18808526	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61	18808526	230442095	173	5281										
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18808711	18808711	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtgcagccggtggccggGaccaatttcttccatatccc	10	14	1	0	rs2992751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:18808711G>C	ENST00000400664.1	+	1	1288	c.1236G>C	c.(1234-1236)ggG>ggC	p.G412G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	412						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTGGCCGGGACCAATTTCT	0.657													G|||	1321	0.263778	0.1725	0.2349	5008	,	,		14427	0.625		0.1173	False		,,,				2504	0.1861				p.G412G		Atlas-SNP	.											.	KLHDC7A	60	.	0			c.G1236C						PASS	.	G		845,3561		85,675,1443	27	34	32		1236	2.2	0.8	1	dbSNP_101	32	1051,7549		54,943,3303	no	coding-synonymous	KLHDC7A	NM_152375.2		139,1618,4746	CC,CG,GG		12.2209,19.1784,14.5779		412/778	18808711	1896,11110	2203	4300	6503	SO:0001819	synonymous_variant	127707	exon1			GGCCGGGACCAAT	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1236G>C	1.37:g.18808711G>C		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	15	0.357143	NM_152375	Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																			G|0.795;C|0.205	0.205	strong		0.657	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		C	18808711	G	C	18808711	2	2	22	1	0	0	0	0	0	0	0	1	8360	1161	41	4		4	KLHDC7A	1	18808711	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	185	18808711	230441910	174	5282										
TAS1R2	80834	hgsc.bcm.edu	37	chr1	19166100	19166100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccggatggcactagtccCtcctcatggtgtagccctgg	11	15	1	0	rs9988418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19166100C>T	ENST00000375371.3	-	6	2534	c.2513G>A	c.(2512-2514)aGg>aAg	p.R838K		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	838			R -> K (in dbSNP:rs9988418).		detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCACTAGTCCCTCCTCATGGT	0.612													c|||	288	0.057508	0.1944	0.0303	5008	,	,		15986	0.001		0.003	False		,,,				2504	0.0061				p.R838K		Atlas-SNP	.											.	TAS1R2	134	.	0			c.G2513A						PASS	.		LYS/ARG	613,3793	264.1+/-265.8	43,527,1633	64	51	55		2513	-5.4	0	1	dbSNP_119	55	60,8540	35.9+/-90.5	1,58,4241	yes	missense	TAS1R2	NM_152232.2	26	44,585,5874	TT,TC,CC		0.6977,13.9128,5.1745	benign	838/840	19166100	673,12333	2203	4300	6503	SO:0001583	missense	80834	exon6			TAGTCCCTCCTCA		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2513G>A	1.37:g.19166100C>T	ENSP00000364520:p.Arg838Lys	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	186	83	0.446237	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	91	0.041666666666666664	71	0.1443089430894309	16	0.04419889502762431	1	0.0017482517482517483	3	0.00395778364116095	C	0.013	-1.638637	0.00799	0.139128	0.006977	ENSG00000179002	ENST00000375371	D	0.87650	-2.28	5.19	-5.36	0.02689	.	0.573210	0.15415	N	0.263527	T	0.00608	0.0020	N	0.01576	-0.805	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.34279	-0.9835	9	0.02654	T	1	.	6.9586	0.24585	0.135:0.5063:0.0:0.3587	rs9988418;rs52814741;rs9988418	838	Q8TE23	TS1R2_HUMAN	K	838	ENSP00000364520:R838K	ENSP00000364520:R838K	R	-	2	0	TAS1R2	19038687	0.002000	0.14202	0.003000	0.11579	0.095000	0.18619	-0.049000	0.11924	-1.382000	0.02109	-0.364000	0.07487	AGG	C|0.950;T|0.050	0.050	strong		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166100	C	T	19166100	3	4	22	1	0	0	0	0	1	0	0	0	15560	681	24	2	10	2	TAS1R2	1	19166100	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	357389	19166100	230084521	175	5283										
TAS1R2	80834	hgsc.bcm.edu	37	chr1	19166243	19166243	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtgaccaagaggtccacGatggtgaccagcaccccgct	11	14	0	3	rs12075191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19166243G>A	ENST00000375371.3	-	6	2391	c.2370C>T	c.(2368-2370)atC>atT	p.I790I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	790					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGAGGTCCACGATGGTGACCA	0.577													g|||	423	0.0844649	0.0363	0.0231	5008	,	,		20505	0.1141		0.0557	False		,,,				2504	0.1922				p.I790I		Atlas-SNP	.											.	TAS1R2	134	.	0			c.C2370T						PASS	.			196,4210	123.3+/-160.7	5,186,2012	120	91	101		2370	2.2	0.9	1	dbSNP_120	101	397,8203	126.7+/-185.1	14,369,3917	no	coding-synonymous	TAS1R2	NM_152232.2		19,555,5929	AA,AG,GG		4.6163,4.4485,4.5594		790/840	19166243	593,12413	2203	4300	6503	SO:0001819	synonymous_variant	80834	exon6			GTCCACGATGGTG		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2370C>T	1.37:g.19166243G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	204	108	0.529412	NM_152232	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																			G|0.950;A|0.050	0.050	strong		0.577	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19166243	G	A	19166243	2	1	22	1	0	0	0	0	0	0	0	1	15560	1048	37	1		1	TAS1R2	1	19166243	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	143	19166243	230084378	176	5284										
TAS1R2	80834	hgsc.bcm.edu	37	chr1	19166893	19166893	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgctgaggaagcccagggCggccagcagggccacagcga					rs6662276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19166893C>T	ENST00000375371.3	-	6	1741	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	574			A -> T (in dbSNP:rs6662276).		detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AAGCCCAGGGCGGCCAGCAGG	0.612													C|||	456	0.0910543	0.0575	0.0274	5008	,	,		18237	0.1141		0.0557	False		,,,				2504	0.1943				p.A574T		Atlas-SNP	.											TAS1R2,NS,carcinoma,+1,1	TAS1R2	134	1	0			c.G1720A						PASS	.	C	THR/ALA	292,4114	159.2+/-191.8	13,266,1924	49	51	50		1720	-2.4	0	1	dbSNP_116	50	398,8202	125.6+/-184.2	14,370,3916	yes	missense	TAS1R2	NM_152232.2	58	27,636,5840	TT,TC,CC		4.6279,6.6273,5.3052	benign	574/840	19166893	690,12316	2203	4300	6503	SO:0001583	missense	80834	exon6			CCAGGGCGGCCAG		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1720G>A	1.37:g.19166893C>T	ENSP00000364520:p.Ala574Thr	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	150	0.06868131868131869	38	0.07723577235772358	8	0.022099447513812154	63	0.11013986013986014	41	0.05408970976253298	C	0.507	-0.868442	0.02590	0.066273	0.046279	ENSG00000179002	ENST00000375371	D	0.89050	-2.46	5.48	-2.4	0.06583	GPCR, family 3, C-terminal (1);	1.393920	0.04634	N	0.404173	T	0.03827	0.0108	N	0.08118	0	0.80722	P	0.0	B	0.24618	0.107	B	0.12156	0.007	T	0.42275	-0.9461	9	0.14656	T	0.56	.	0.2745	0.00236	0.2947:0.1946:0.1462:0.3645	rs6662276;rs6662276	574	Q8TE23	TS1R2_HUMAN	T	574	ENSP00000364520:A574T	ENSP00000364520:A574T	A	-	1	0	TAS1R2	19039480	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.804000	0.04535	-0.254000	0.09500	-0.878000	0.02970	GCC	C|0.937;T|0.063	0.063	strong		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166893	C	T	19166893	3	4	22	1	0	0	0	0	1	0	0	0	15560	768	27	1	803	1	TAS1R2	1	19166893	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	650	19166893	230083728	177	5285	105	2								
TAS1R2	80834	hgsc.bcm.edu	37	chr1	19166894	19166894	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgaggaagcccagggcGgccagcagggccacagcgat					rs11805253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19166894G>A	ENST00000375371.3	-	6	1740	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	573					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCCAGGGCGGCCAGCAGGG	0.612													G|||	262	0.0523163	0.1747	0.0303	5008	,	,		18191	0.001		0.003	False		,,,				2504	0.0061				p.A573A		Atlas-SNP	.											.	TAS1R2	134	.	0			c.C1719T						PASS	.	G		529,3877	237.7+/-249.4	32,465,1706	49	51	50		1719	-7.5	0	1	dbSNP_120	50	61,8539	36.9+/-92.0	1,59,4240	no	coding-synonymous	TAS1R2	NM_152232.2		33,524,5946	AA,AG,GG		0.7093,12.0064,4.5364		573/840	19166894	590,12416	2203	4300	6503	SO:0001819	synonymous_variant	80834	exon6			CAGGGCGGCCAGC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1719C>T	1.37:g.19166894G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	125	63	0.504	NM_152232	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																			G|0.959;A|0.041	0.041	strong		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19166894	G	A	19166894	2	1	22	1	0	0	0	0	0	0	0	1	15560	1103	39	1		1	TAS1R2	1	19166894	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	19166894	230083727	178	5286	105	2								
UBR4	23352	hgsc.bcm.edu	37	chr1	19403331	19403331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcgtagatgggcatgtcGttgtggcggatgtactcagc	15	8	1	1	rs142064832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19403331G>A	ENST00000375254.3	-	105	15417	c.15390C>T	c.(15388-15390)aaC>aaT	p.N5130N	UBR4_ENST00000375224.1_Silent_p.N837N|UBR4_ENST00000375226.2_Silent_p.N5106N|UBR4_ENST00000375267.2_Silent_p.N5151N|UBR4_ENST00000543981.1_Silent_p.N794N|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000429347.2_Silent_p.N653N|UBR4_ENST00000375225.3_Silent_p.N205N|UBR4_ENST00000375217.2_Silent_p.N5123N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5130					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGCATGTCGTTGTGGCGGA	0.552													G|||	14	0.00279553	0.0106	0.0	5008	,	,		19899	0.0		0.0	False		,,,				2504	0.0				p.N5130N		Atlas-SNP	.											.	UBR4	415	.	0			c.C15390T						PASS	.	G		14,4392	22.3+/-47.3	0,14,2189	199	172	181		15390	-4.1	1	1	dbSNP_134	181	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		5130/5184	19403331	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon105			CATGTCGTTGTGG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15390C>T	1.37:g.19403331G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	193	88	0.455959	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			G|0.999;A|0.001	0.001	strong		0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19403331	G	A	19403331	2	1	22	1	0	0	0	0	0	0	0	1	16901	1136	40	1		1	UBR4	1	19403331	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	236437	19403331	229847290	179	5287										
UBR4	23352	hgsc.bcm.edu	37	chr1	19422060	19422060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtttagggtccccagcatGacgttcaaggtgttcatttc	11	9	2	1	rs2236378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19422060G>A	ENST00000375254.3	-	93	13632	c.13605C>T	c.(13603-13605)gtC>gtT	p.V4535V	UBR4_ENST00000375226.2_Silent_p.V4511V|UBR4_ENST00000543981.1_Silent_p.V199V|UBR4_ENST00000375224.1_Silent_p.V242V|UBR4_ENST00000375217.2_Silent_p.V4528V|UBR4_ENST00000375267.2_Silent_p.V4535V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Silent_p.V98V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4535					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCCCAGCATGACGTTCAAGG	0.502													G|||	131	0.0261581	0.0174	0.0202	5008	,	,		22565	0.0585		0.0	False		,,,				2504	0.0358				p.V4535V		Atlas-SNP	.											.	UBR4	415	.	0			c.C13605T						PASS	.	G		71,4335	65.3+/-102.7	0,71,2132	175	132	147		13605	5.8	1	1	dbSNP_98	147	5,8595	3.7+/-12.6	0,5,4295	yes	coding-synonymous	UBR4	NM_020765.2		0,76,6427	AA,AG,GG		0.0581,1.6114,0.5843		4535/5184	19422060	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon93			CAGCATGACGTTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13605C>T	1.37:g.19422060G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	200	95	0.475	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			G|0.989;A|0.011	0.011	strong		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19422060	G	A	19422060	2	1	22	1	0	0	0	0	0	0	0	1	16901	1277	45	2		2	UBR4	1	19422060	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18729	19422060	229828561	180	5288										
UBR4	23352	hgsc.bcm.edu	37	chr1	19451090	19451090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaggtgggattcgagaaTtggtgtcagtaatctttttg	14	4	2	1	rs183578825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19451090T>C	ENST00000375254.3	-	65	9560	c.9533A>G	c.(9532-9534)aAt>aGt	p.N3178S	UBR4_ENST00000375226.2_Missense_Mutation_p.N3154S|UBR4_ENST00000375267.2_Missense_Mutation_p.N3178S|UBR4_ENST00000375217.2_Missense_Mutation_p.N3171S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3178					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GATTCGAGAATTGGTGTCAGT	0.468													T|||	3	0.000599042	0.0023	0.0	5008	,	,		19837	0.0		0.0	False		,,,				2504	0.0				p.N3178S		Atlas-SNP	.											UBR4,NS,carcinoma,0,1	UBR4	415	1	0			c.A9533G						PASS	.						201	183	189					1																	19451090		2203	4300	6503	SO:0001583	missense	23352	exon65			CGAGAATTGGTGT	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9533A>G	1.37:g.19451090T>C	ENSP00000364403:p.Asn3178Ser	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	167	79	0.473054	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	13.60	2.286447	0.40494	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.21543	2.0;2.0;2.01;2.01	6.07	3.29	0.37713	.	0.196102	0.52532	N	0.000075	T	0.07999	0.0200	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24693	-1.0153	10	0.16896	T	0.51	.	7.8597	0.29504	0.0:0.303:0.0:0.697	.	3178	Q5T4S7	UBR4_HUMAN	S	3178;3178;3171;3154;786;1864	ENSP00000364403:N3178S;ENSP00000364416:N3178S;ENSP00000364365:N3171S;ENSP00000364374:N3154S	ENSP00000364365:N3171S	N	-	2	0	UBR4	19323677	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	3.890000	0.56220	0.348000	0.23949	0.533000	0.62120	AAT	T|0.999;C|0.001	0.001	strong		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19451090	T	C	19451090	3	2	22	1	0	0	0	0	1	0	0	0	16901	1493	52	2	6186	2	UBR4	1	19451090	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29030	19451090	229799531	181	5289										
UBR4	23352	hgsc.bcm.edu	37	chr1	19467322	19467322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggttcctgcgtccagagaGgaagagctgggtgcctggcc	17	10	0	2	rs139618268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19467322G>A	ENST00000375254.3	-	58	8580	c.8553C>T	c.(8551-8553)tcC>tcT	p.S2851S	UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Silent_p.S2851S|UBR4_ENST00000375217.2_Intron	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2851					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGTCCAGAGAGGAAGAGCTGG	0.622													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19916	0.0		0.0	False		,,,				2504	0.0				p.S2851S		Atlas-SNP	.											.	UBR4	415	.	0			c.C8553T						PASS	.	G		17,4389	22.3+/-47.3	0,17,2186	66	60	62		8553	4.8	1	1	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,17,6486	AA,AG,GG		0.0,0.3858,0.1307		2851/5184	19467322	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon58			CAGAGAGGAAGAG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8553C>T	1.37:g.19467322G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			G|0.999;A|0.001	0.001	strong		0.622	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19467322	G	A	19467322	2	1	22	1	0	0	0	0	0	0	0	1	16901	987	35	2		2	UBR4	1	19467322	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16232	19467322	229783299	182	5290										
UBR4	23352	hgsc.bcm.edu	37	chr1	19471388	19471388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcattgacagtagcttcAatatgagttagtcctaaagg	10	6	1	3	rs2274000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19471388A>G	ENST00000375254.3	-	54	7986	c.7959T>C	c.(7957-7959)atT>atC	p.I2653I	UBR4_ENST00000375226.2_Silent_p.I2664I|UBR4_ENST00000375267.2_Silent_p.I2653I|UBR4_ENST00000375217.2_Silent_p.I2681I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2653					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I2653I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGTAGCTTCAATATGAGTTA	0.393													A|||	532	0.10623	0.2905	0.049	5008	,	,		19725	0.0704		0.0	False		,,,				2504	0.044				p.I2653I		Atlas-SNP	.											UBR4,NS,carcinoma,0,1	UBR4	415	1	1	Substitution - coding silent(1)	stomach(1)	c.T7959C						PASS	.	A		1132,3274	404.4+/-333.1	151,830,1222	138	120	126		7959	-0.4	1	1	dbSNP_100	126	28,8572	18.5+/-59.3	0,28,4272	no	coding-synonymous	UBR4	NM_020765.2		151,858,5494	GG,GA,AA		0.3256,25.6922,8.919		2653/5184	19471388	1160,11846	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon54			AGCTTCAATATGA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7959T>C	1.37:g.19471388A>G		Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	210	108	0.514286	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			A|0.904;G|0.096	0.096	strong		0.393	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19471388	A	G	19471388	2	3	22	1	0	0	0	0	0	0	0	1	16901	126	5	2		2	UBR4	1	19471388	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4066	19471388	229779233	183	5291										
UBR4	23352	hgsc.bcm.edu	37	chr1	19482788	19482788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaaagtctgcggtgacaaTtgctaactcggtctgtgaac	10	9	2	2	rs145733997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19482788T>C	ENST00000375254.3	-	42	6076	c.6049A>G	c.(6049-6051)Att>Gtt	p.I2017V	UBR4_ENST00000375226.2_Missense_Mutation_p.I2017V|UBR4_ENST00000375267.2_Missense_Mutation_p.I2017V|UBR4_ENST00000375217.2_Missense_Mutation_p.I2017V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2017					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCGGTGACAATTGCTAACTCG	0.433													T|||	15	0.00299521	0.0106	0.0	5008	,	,		21210	0.0		0.0	False		,,,				2504	0.001				p.I2017V		Atlas-SNP	.											.	UBR4	415	.	0			c.A6049G						PASS	.	T	VAL/ILE	11,4395	19.1+/-41.9	0,11,2192	132	119	123		6049	5.4	1	1	dbSNP_134	123	0,8600		0,0,4300	yes	missense	UBR4	NM_020765.2	29	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	benign	2017/5184	19482788	11,12995	2203	4300	6503	SO:0001583	missense	23352	exon42			TGACAATTGCTAA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6049A>G	1.37:g.19482788T>C	ENSP00000364403:p.Ile2017Val	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	192	95	0.494792	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	11.40	1.626757	0.28978	0.002497	0.0	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;3.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	N	0.01482	-0.84	0.80722	D	1	P	0.35745	0.518	P	0.47827	0.558	T	0.47636	-0.9102	10	0.09590	T	0.72	.	15.6048	0.76658	0.0:0.0:0.0:1.0	.	2017	Q5T4S7	UBR4_HUMAN	V	2017;2017;2017;2017;727;1233	ENSP00000364403:I2017V;ENSP00000364416:I2017V;ENSP00000364365:I2017V;ENSP00000364374:I2017V;ENSP00000404897:I727V	ENSP00000364365:I2017V	I	-	1	0	UBR4	19355375	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.563000	0.67352	2.270000	0.75569	0.482000	0.46254	ATT	T|0.999;C|0.001	0.001	strong		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19482788	T	C	19482788	3	2	22	1	0	0	0	0	1	0	0	0	16901	1493	52	2	9762	2	UBR4	1	19482788	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11400	19482788	229767833	184	5292										
UBR4	23352	hgsc.bcm.edu	37	chr1	19500830	19500830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaaggctgttacattctTgttttcctttctcctaactg	5	11	2	0	rs143098074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19500830T>G	ENST00000375254.3	-	22	2992	c.2965A>C	c.(2965-2967)Aag>Cag	p.K989Q	UBR4_ENST00000375226.2_Missense_Mutation_p.K989Q|UBR4_ENST00000375267.2_Missense_Mutation_p.K989Q|UBR4_ENST00000375217.2_Missense_Mutation_p.K989Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	989					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTACATTCTTGTTTTCCTTT	0.423													T|||	9	0.00179712	0.0068	0.0	5008	,	,		19353	0.0		0.0	False		,,,				2504	0.0				p.K989Q		Atlas-SNP	.											.	UBR4	415	.	0			c.A2965C						PASS	.	T	GLN/LYS	7,4399	12.9+/-30.5	0,7,2196	155	131	139		2965	5.8	1	1	dbSNP_134	139	0,8600		0,0,4300	yes	missense	UBR4	NM_020765.2	53	0,7,6496	GG,GT,TT		0.0,0.1589,0.0538	benign	989/5184	19500830	7,12999	2203	4300	6503	SO:0001583	missense	23352	exon22			CATTCTTGTTTTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2965A>C	1.37:g.19500830T>G	ENSP00000364403:p.Lys989Gln	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189502	0.57909	0.001589	0.0	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.25912	1.78;1.78;1.78;1.77	5.76	5.76	0.90799	.	0.104877	0.64402	D	0.000006	T	0.21921	0.0528	L	0.36672	1.1	0.80722	D	1	P	0.34522	0.455	B	0.31869	0.137	T	0.02885	-1.1098	10	0.29301	T	0.29	.	15.7251	0.77751	0.0:0.0:0.0:1.0	.	989	Q5T4S7	UBR4_HUMAN	Q	989;989;989;989;205	ENSP00000364403:K989Q;ENSP00000364416:K989Q;ENSP00000364365:K989Q;ENSP00000364374:K989Q	ENSP00000364365:K989Q	K	-	1	0	UBR4	19373417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.368000	0.79567	2.197000	0.70478	0.533000	0.62120	AAG	T|0.999;G|0.001	0.001	strong		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19500830	T	G	19500830	3	3	22	1	0	0	0	0	1	0	0	0	16901	1821	63	5	12926	5	UBR4	1	19500830	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18042	19500830	229749791	185	5293										
UBR4	23352	hgsc.bcm.edu	37	chr1	19518855	19518855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcaccaagcacccagcaaTtggaaattctgatagtgctg	9	10	1	1	rs147313932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19518855T>C	ENST00000375254.3	-	11	1248	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	UBR4_ENST00000375226.2_Silent_p.Q407Q|UBR4_ENST00000375217.2_Silent_p.Q407Q|UBR4_ENST00000375267.2_Silent_p.Q407Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	407					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCCAGCAATTGGAAATTCT	0.428													T|||	15	0.00299521	0.0106	0.0	5008	,	,		19894	0.001		0.0	False		,,,				2504	0.0				p.Q407Q		Atlas-SNP	.											.	UBR4	415	.	0			c.A1221G						PASS	.	T		13,4393	21.2+/-45.6	0,13,2190	79	81	80		1221	-11.2	0	1	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,13,6490	CC,CT,TT		0.0,0.2951,0.1		407/5184	19518855	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon11			CAGCAATTGGAAA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1221A>G	1.37:g.19518855T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	78	37	0.474359	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			T|0.999;C|0.001	0.001	strong		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19518855	T	C	19518855	2	2	22	1	0	0	0	0	0	0	0	1	16901	1490	52	2		2	UBR4	1	19518855	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18025	19518855	229731766	186	5294										
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19549250	19549250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggagctgaaggcggtggCgttgtattgctcagtgccct	16	9	1	1	rs371524055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19549250C>T	ENST00000477853.1	-	20	2497	c.2455G>A	c.(2455-2457)Gcc>Acc	p.A819T	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'Flank|EMC1_ENST00000375208.3_Missense_Mutation_p.A797T|EMC1_ENST00000375199.3_Missense_Mutation_p.A818T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	819						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAGGCGGTGGCGTTGTATTGC	0.602													C|||	4	0.000798722	0.003	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0				p.A819T		Atlas-SNP	.											.	.	.	.	0			c.G2455A						PASS	.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121	107	111		2455	6	1	1		111	0,8600		0,0,4300	no	missense	KIAA0090	NM_015047.1	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	819/994	19549250	1,13005	2203	4300	6503	SO:0001583	missense	23065	exon20			CGGTGGCGTTGTA		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2455G>A	1.37:g.19549250C>T	ENSP00000420608:p.Ala819Thr	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	199	105	0.527638	NM_015047	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.93|14.93	2.680976|2.680976	0.47886|0.47886	2.27E-4|2.27E-4	0.0|0.0	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405|ENST00000375197	T;T;T|.	0.24723|.	1.84;1.84;1.84|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Domain of unknown function DUF1620 (1);|.	0.085825|.	0.85682|.	D|.	0.000000|.	T|T	0.51856|0.51856	0.1699|0.1699	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.39520|.	0.334;0.101;0.625;0.676|.	B;B;B;B|.	0.32289|.	0.063;0.063;0.088;0.143|.	T|T	0.45160|0.45160	-0.9280|-0.9280	10|5	0.21014|.	T|.	0.42|.	-26.1445|-26.1445	12.3448|12.3448	0.55114|0.55114	0.0:0.9228:0.0:0.0772|0.0:0.9228:0.0:0.0772	.|.	797;818;818;819|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	T|H	819;818;797;64|552	ENSP00000420608:A819T;ENSP00000364345:A818T;ENSP00000364354:A797T|.	ENSP00000364345:A818T|.	A|R	-|-	1|2	0|0	KIAA0090|KIAA0090	19421837|19421837	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.732000|0.732000	0.41865|0.41865	5.405000|5.405000	0.66351|0.66351	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GCC|CGC	.	.	none		0.602	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19549250	C	T	19549250	3	4	22	1	0	0	0	0	1	0	0	0	8153	768	27	1	542	1	KIAA0090	1	19549250	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30395	19549250	229701371	187	5295										
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19565338	19565338	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattgacccatcttcagaaCtgctacttttctgctatgag					rs709682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19565338C>T	ENST00000477853.1	-	10	1082	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.S325N|EMC1_ENST00000375199.3_Missense_Mutation_p.S346N	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	347			S -> N (in dbSNP:rs709682). {ECO:0000269|PubMed:16303743}.			ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S347N(1)									ATCTTCAGAACTGCTACTTTT	0.468													T|||	852	0.170128	0.3162	0.098	5008	,	,		18740	0.124		0.1173	False		,,,				2504	0.1258				p.S347N		Atlas-SNP	.											KIAA0090,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.G1040A						scavenged	.	T	ASN/SER	1304,3102	697.9+/-406.3	204,896,1103	124	132	129		1040	-0.3	0.5	1	dbSNP_86	129	1192,7408	764.2+/-407.6	96,1000,3204	yes	missense	KIAA0090	NM_015047.1	46	300,1896,4307	TT,TC,CC		13.8605,29.596,19.1911	benign	347/994	19565338	2496,10510	2203	4300	6503	SO:0001583	missense	23065	exon10			TCAGAACTGCTAC		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1040G>A	1.37:g.19565338C>T	ENSP00000420608:p.Ser347Asn	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	92	38	0.413043	NM_001271428	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	376	0.17216117216117216	177	0.3597560975609756	36	0.09944751381215469	66	0.11538461538461539	97	0.1279683377308707	T	11.32	1.602931	0.28534	0.29596	0.138605	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.24151	1.9;1.87;1.89	6.17	-0.272	0.12919	.	0.884235	0.10526	N	0.664347	T	0.00012	0.0000	L	0.36672	1.1	0.52501	P	4.199999999998649E-5	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.48410	-0.9038	9	0.17832	T	0.49	0.3363	6.7827	0.23654	0.1082:0.5551:0.0:0.3367	rs709682;rs52798866;rs59494929;rs709682	325;346;347;347	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	N	347;346;325	ENSP00000420608:S347N;ENSP00000364345:S346N;ENSP00000364354:S325N	ENSP00000364345:S346N	S	-	2	0	KIAA0090	19437925	0.013000	0.17824	0.478000	0.27316	0.893000	0.52053	-0.513000	0.06305	-0.571000	0.06014	-0.254000	0.11334	AGT	C|0.816;T|0.184	0.184	strong		0.468	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19565338	C	T	19565338	3	4	22	1	0	0	0	0	1	0	0	0	8153	565	20	2	1997	2	KIAA0090	1	19565338	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16088	19565338	229685283	188	5296	106	2								
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19565344	19565344	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccatcttcagaactgctaCttttctgctatgagaaagag					rs709683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19565344C>G	ENST00000477853.1	-	10	1076	c.1034G>C	c.(1033-1035)aGt>aCt	p.S345T	EMC1_ENST00000375199.3_Missense_Mutation_p.S344T|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.S323T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	345			S -> T (in dbSNP:rs709683). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16303743}.			ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGAACTGCTACTTTTCTGCTA	0.458													G|||	2866	0.572284	0.7315	0.5101	5008	,	,		18872	0.7401		0.3469	False		,,,				2504	0.4601				p.S345T		Atlas-SNP	.											.	.	.	.	0			c.G1034C						PASS	.	G	THR/SER	3012,1394	458.0+/-351.8	1047,918,238	116	124	121		1034	5.2	0.9	1	dbSNP_86	121	3095,5505	659.4+/-401.7	566,1963,1771	yes	missense	KIAA0090	NM_015047.1	58	1613,2881,2009	GG,GC,CC		35.9884,31.6387,46.9553	benign	345/994	19565344	6107,6899	2203	4300	6503	SO:0001583	missense	23065	exon10			CTGCTACTTTTCT		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1034G>C	1.37:g.19565344C>G	ENSP00000420608:p.Ser345Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_001271428	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	1224|1224	0.5604395604395604|0.5604395604395604	361|361	0.733739837398374|0.733739837398374	167|167	0.4613259668508287|0.4613259668508287	431|431	0.7534965034965035|0.7534965034965035	265|265	0.3496042216358839|0.3496042216358839	G|G	7.688|7.688	0.690412|0.690412	0.15039|0.15039	0.683613|0.683613	0.359884|0.359884	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.23147	.|1.98;1.92;1.98	6.17|6.17	5.22|5.22	0.72569|0.72569	.|.	.|0.708347	.|0.15080	.|N	.|0.281698	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.58432|0.58432	P|P	4.000000000004E-6|4.000000000004E-6	.|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|T	0.16217|0.16217	-1.0410|-1.0410	5|9	0.39692|0.12430	T|T	0.17|0.62	-7.2019|-7.2019	16.2834|16.2834	0.82708|0.82708	0.0:0.2663:0.7337:0.0|0.0:0.2663:0.7337:0.0	rs709683;rs57408009;rs709683|rs709683;rs57408009;rs709683	.|323;344;345;345	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	N|T	78|345;344;323	.|ENSP00000420608:S345T;ENSP00000364345:S344T;ENSP00000364354:S323T	ENSP00000364343:K78N|ENSP00000364345:S344T	K|S	-|-	3|2	2|0	KIAA0090|KIAA0090	19437931|19437931	0.934000|0.934000	0.31675|0.31675	0.868000|0.868000	0.34077|0.34077	0.804000|0.804000	0.45430|0.45430	2.667000|2.667000	0.46808|0.46808	1.643000|1.643000	0.50594|0.50594	-0.120000|-0.120000	0.15030|0.15030	AAG|AGT	C|0.506;G|0.494	0.494	strong		0.458	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		G	19565344	C	G	19565344	3	3	22	1	0	0	0	0	1	0	0	0	8153	565	20	4	2003	4	KIAA0090	1	19565344	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	19565344	229685277	189	5297	106	2								
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19570146	19570146	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcccagttcaggcccccGatgttagtctcccaggaacg	9	15	3	0	rs6661253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19570146G>A	ENST00000477853.1	-	4	384	c.342C>T	c.(340-342)atC>atT	p.I114I	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.I92I|EMC1_ENST00000375199.3_Silent_p.I114I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	114						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCAGGCCCCCGATGTTAGTCT	0.498													G|||	191	0.038139	0.1241	0.0288	5008	,	,		21352	0.0069		0.0	False		,,,				2504	0.0				p.I114I		Atlas-SNP	.											.	.	.	.	0			c.C342T						PASS	.	G		513,3893	236.1+/-248.4	39,435,1729	124	128	126		342	-11.3	0.3	1	dbSNP_116	126	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	KIAA0090	NM_015047.1		39,441,6023	AA,AG,GG		0.0698,11.6432,3.9905		114/994	19570146	519,12487	2203	4300	6503	SO:0001819	synonymous_variant	23065	exon4			GCCCCCGATGTTA		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.342C>T	1.37:g.19570146G>A		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	256	129	0.503906	NM_001271427	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	CCDS190.1																																																																																			G|0.959;A|0.041	0.041	strong		0.498	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		A	19570146	G	A	19570146	2	1	22	1	0	0	0	0	0	0	0	1	8153	1048	37	1		1	KIAA0090	1	19570146	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4802	19570146	229680475	190	5298										
MRTO4	51154	hgsc.bcm.edu	37	chr1	19583636	19583636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatacaaagacaacctgcaCcaggtaagtctctggccctc	8	13	1	1	rs1126682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19583636C>T	ENST00000330263.4	+	4	567	c.270C>T	c.(268-270)caC>caT	p.H90H		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	90					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACAACCTGCACCAGGTAAGTC	0.557													C|||	681	0.135982	0.1293	0.1311	5008	,	,		20981	0.0238		0.2008	False		,,,				2504	0.1973				p.H90H	GBM(192;2418 3032 7540 48714)	Atlas-SNP	.											MRTO4,NS,carcinoma,0,1	MRTO4	17	1	0			c.C270T						PASS	.	C		595,3811	261.0+/-264.0	43,509,1651	184	174	178		270	0.2	1	1	dbSNP_86	178	1553,7047	292.8+/-301.0	141,1271,2888	no	coding-synonymous	MRTO4	NM_016183.3		184,1780,4539	TT,TC,CC		18.0581,13.5043,16.5155		90/240	19583636	2148,10858	2203	4300	6503	SO:0001819	synonymous_variant	51154	exon4			CCTGCACCAGGTA	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.270C>T	1.37:g.19583636C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	157	60	0.382166	NM_016183	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																			C|0.842;T|0.158	0.158	strong		0.557	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		T	19583636	C	T	19583636	2	4	22	1	0	0	0	0	0	0	0	1	9852	506	18	2		2	MRTO4	1	19583636	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13490	19583636	229666985	191	5299										
AKR7A3	22977	hgsc.bcm.edu	37	chr1	19611227	19611227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccaaagaagcggcccacGggctgtttcccattcttgtc	9	14	1	1	rs1065658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19611227G>A	ENST00000361640.4	-	5	1197	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	219					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCCCACGGGCTGTTTCC	0.587													G|||	735	0.146765	0.1293	0.1383	5008	,	,		16948	0.0258		0.1789	False		,,,				2504	0.2679				p.P219P		Atlas-SNP	.											.	AKR7A3	30	.	0			c.C657T						PASS	.	G		566,3832		49,468,1682	122	132	129		657	-6	0.2	1	dbSNP_86	129	1590,7010		158,1274,2868	no	coding-synonymous	AKR7A3	NM_012067.2		207,1742,4550	AA,AG,GG		18.4884,12.8695,16.5872		219/332	19611227	2156,10842	2199	4300	6499	SO:0001819	synonymous_variant	22977	exon5			GCCCACGGGCTGT	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.657C>T	1.37:g.19611227G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	229	96	0.419214	NM_012067	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	CCDS193.1																																																																																			G|0.842;A|0.158	0.158	strong		0.587	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		A	19611227	G	A	19611227	2	1	22	1	0	0	0	0	0	0	0	1	476	1103	39	1		1	AKR7A3	1	19611227	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27591	19611227	229639394	192	5300										
AKR7A3	22977	hgsc.bcm.edu	37	chr1	19612477	19612477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggagaggccaagctccaCgaacttgccctgctcaggtg	13	12	1	1	rs2231198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19612477C>T	ENST00000361640.4	-	3	952	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	138			V -> M (in dbSNP:rs2231198). {ECO:0000269|PubMed:10383892, ECO:0000269|PubMed:15489334}.		cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGCTCCACGAACTTGCCC	0.612													C|||	2320	0.463259	0.3646	0.5432	5008	,	,		19169	0.6905		0.3817	False		,,,				2504	0.3896				p.V138M		Atlas-SNP	.											.	AKR7A3	30	.	0			c.G412A						PASS	.	C	MET/VAL	1614,2784		319,976,904	58	54	55		412	3	1	1	dbSNP_98	55	3110,5490		564,1982,1754	no	missense	AKR7A3	NM_012067.2	21	883,2958,2658	TT,TC,CC		36.1628,36.6985,36.3441	benign	138/332	19612477	4724,8274	2199	4300	6499	SO:0001583	missense	22977	exon3			GCTCCACGAACTT	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.412G>A	1.37:g.19612477C>T	ENSP00000355377:p.Val138Met	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	219	101	0.461187	NM_012067	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	CCDS193.1	1072	0.4908424908424908	187	0.3800813008130081	194	0.5359116022099447	411	0.7185314685314685	280	0.36939313984168864	.	6.831	0.522560	0.13066	0.366985	0.361628	ENSG00000162482	ENST00000361640	T	0.23348	1.91	3.04	3.04	0.35103	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.00012	0.0000	M	0.82823	2.61	0.41505	P	0.011692999999999953	B	0.32543	0.375	B	0.24974	0.057	T	0.34453	-0.9828	9	0.41790	T	0.15	.	5.9087	0.19016	0.0:0.8521:0.0:0.1479	rs2231198;rs11539611;rs13374777;rs17852954;rs59246333	138	O95154	ARK73_HUMAN	M	138	ENSP00000355377:V138M	ENSP00000355377:V138M	V	-	1	0	AKR7A3	19485064	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.346000	0.44027	1.542000	0.49330	0.194000	0.17425	GTG	C|0.603;T|0.397	0.397	strong		0.612	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		T	19612477	C	T	19612477	3	4	22	1	0	0	0	0	1	0	0	0	476	536	19	1	603	1	AKR7A3	1	19612477	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1250	19612477	229638144	193	5301										
AKR7A2	8574	hgsc.bcm.edu	37	chr1	19634964	19634964	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacctcctggtgcagccgCtggcaggcatgcagcgtctc	12	16	2	0	rs859208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19634964C>G	ENST00000235835.3	-	2	492	c.471G>C	c.(469-471)caG>caC	p.Q157H		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	157			Q -> H (in dbSNP:rs859208). {ECO:0000269|PubMed:18752886}.		carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCAGCCGCTGGCAGGCAT	0.612													G|||	507	0.101238	0.2965	0.0216	5008	,	,		17828	0.0466		0.0	False		,,,				2504	0.0542				p.Q157H		Atlas-SNP	.											.	AKR7A2	19	.	0			c.G471C						PASS	.	G	HIS/GLN	1214,3192	702.5+/-406.9	159,896,1148	35	37	36		471	-1.6	1	1	dbSNP_86	36	11,8589	815.5+/-407.0	0,11,4289	no	missense	AKR7A2	NM_003689.2	24	159,907,5437	GG,GC,CC		0.1279,27.5533,9.4187	benign	157/360	19634964	1225,11781	2203	4300	6503	SO:0001583	missense	8574	exon2			CAGCCGCTGGCAG	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.471G>C	1.37:g.19634964C>G	ENSP00000235835:p.Gln157His	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	192	99	0.515625	NM_003689	O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	CCDS194.1	166|166	0.076007326007326|0.076007326007326	145|145	0.29471544715447157|0.29471544715447157	5|5	0.013812154696132596|0.013812154696132596	16|16	0.027972027972027972|0.027972027972027972	0|0	0.0|0.0	G|G	0.019|0.019	-1.457599|-1.457599	0.01071|0.01071	0.275533|0.275533	0.001279|0.001279	ENSG00000053371|ENSG00000053371	ENST00000235835;ENST00000330072|ENST00000489286	T;T|.	0.24723|.	1.84;1.84|.	4.09|4.09	-1.58|-1.58	0.08479|0.08479	NADP-dependent oxidoreductase domain (3);|.	0.533647|.	0.21446|.	N|.	0.074405|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02765|0.02765	-0.5|-0.5	0.46725|0.46725	P|P	8.240000000000469E-4|8.240000000000469E-4	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.10450|.	0.005;0.003;0.005|.	T|T	0.42430|0.42430	-0.9452|-0.9452	9|4	0.10636|.	T|.	0.68|.	.|.	0.6684|0.6684	0.00854|0.00854	0.1973:0.2501:0.1723:0.3803|0.1973:0.2501:0.1723:0.3803	rs859208;rs859208|rs859208;rs859208	128;128;157|.	C9JSL3;B4DZX4;O43488|.	.;.;ARK72_HUMAN|.	H|T	157;147|85	ENSP00000235835:Q157H;ENSP00000339084:Q147H|.	ENSP00000235835:Q157H|.	Q|S	-|-	3|2	2|0	AKR7A2|AKR7A2	19507551|19507551	0.613000|0.613000	0.27009|0.27009	0.987000|0.987000	0.45799|0.45799	0.344000|0.344000	0.29017|0.29017	-0.114000|-0.114000	0.10757|0.10757	-0.437000|-0.437000	0.07243|0.07243	-0.216000|-0.216000	0.12614|0.12614	CAG|AGC	C|0.915;G|0.085	0.085	strong		0.612	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		G	19634964	C	G	19634964	3	3	22	1	0	0	0	0	1	0	0	0	475	796	28	4	632	4	AKR7A2	1	19634964	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22487	19634964	229615657	194	5302										
PQLC2	54896	hgsc.bcm.edu	37	chr1	19652063	19652063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttactacaagttcaggacGcgcccctctctgtgtgagta	9	11	2	1	rs11558390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19652063G>A	ENST00000375153.3	+	4	1009	c.369G>A	c.(367-369)acG>acA	p.T123T	PQLC2_ENST00000375155.3_Silent_p.T123T|PQLC2_ENST00000400548.2_Silent_p.T58T	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	123					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTCAGGACGCGCCCCTCTC	0.592													A|||	1032	0.20607	0.1589	0.183	5008	,	,		13556	0.0833		0.2873	False		,,,				2504	0.3292				p.T123T		Atlas-SNP	.											.	PQLC2	34	.	0			c.G369A						PASS	.	A	,,	808,3598	749.0+/-412.0	75,658,1470	95	78	84		369,174,369	-11.3	0	1	dbSNP_120	84	2479,6121	695.5+/-404.8	368,1743,2189	no	coding-synonymous,coding-synonymous,coding-synonymous	PQLC2	NM_001040125.1,NM_001040126.1,NM_017765.2	,,	443,2401,3659	AA,AG,GG		28.8256,18.3386,25.273	,,	123/292,58/227,123/292	19652063	3287,9719	2203	4300	6503	SO:0001819	synonymous_variant	54896	exon4			CAGGACGCGCCCC	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.369G>A	1.37:g.19652063G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	82	80	0.97561	NM_001040125	B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Silent	SNP	ENST00000375153.3	37	CCDS195.2																																																																																			G|0.771;A|0.229	0.229	strong		0.592	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		A	19652063	G	A	19652063	2	1	22	1	0	0	0	0	0	0	0	1	12419	1074	38	1		1	PQLC2	1	19652063	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17099	19652063	229598558	195	5303										
C1orf151	440574	hgsc.bcm.edu	37	chr1	19950062	19950062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctccatatcttctacaTggaaaatatgtcaaagtatg	7	8	3	0	rs1737428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19950062T>C	ENST00000322753.6	+	3	263	c.207T>C	c.(205-207)caT>caC	p.H69H	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	69						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											ATCTTCTACATGGAAAATATG	0.383													C|||	1731	0.345647	0.705	0.2032	5008	,	,		19847	0.1419		0.2346	False		,,,				2504	0.2853				p.H69H		Atlas-SNP	.											.	.	.	.	0			c.T207C						PASS	.	C	,,,,	2865,1541	484.9+/-360.2	929,1007,267	119	116	117		207,159,207,,	0.9	1	1	dbSNP_89	117	1739,6861	736.3+/-407.0	208,1323,2769	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,intron	MINOS1,C1orf151-NBL1	NM_001032363.3,NM_001204082.1,NM_001204083.1,NM_001204088.1,NM_001204089.1	,,,,	1137,2330,3036	CC,CT,TT		20.2209,34.975,35.399	,,,,	69/79,53/63,69/141,,	19950062	4604,8402	2203	4300	6503	SO:0001819	synonymous_variant	440574	exon3			TCTACATGGAAAA	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 151"	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.207T>C	1.37:g.19950062T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	69	37	0.536232	NM_001032363	Q96G68	Silent	SNP	ENST00000322753.6	37	CCDS30620.1																																																																																			T|0.661;C|0.339	0.339	strong		0.383	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		C	19950062	T	C	19950062	2	2	22	1	0	0	0	0	0	0	0	1	2005	1461	51	2		2	C1orf151	1	19950062	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	297999	19950062	229300559	196	5304										
HTR6	3362	hgsc.bcm.edu	37	chr1	19992372	19992372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatcgcgctgacggcggcGgccaactcgctgctgatcgc	14	15	1	2	rs8192529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:19992372G>T	ENST00000289753.1	+	1	593	c.126G>T	c.(124-126)gcG>gcT	p.A42A		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	42					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TGACGGCGGCGGCCAACTCGC	0.711													G|||	142	0.0283546	0.0303	0.0259	5008	,	,		13132	0.001		0.0517	False		,,,				2504	0.0317				p.A42A	Esophageal Squamous(168;1879 2619 6848 21062)	Atlas-SNP	.											.	HTR6	38	.	0			c.G126T						PASS	.	G		74,4278		3,68,2105	11	11	11		126	0.2	1	1	dbSNP_117	11	223,8271		2,219,4026	no	coding-synonymous	HTR6	NM_000871.1		5,287,6131	TT,TG,GG		2.6254,1.7004,2.312		42/441	19992372	297,12549	2176	4247	6423	SO:0001819	synonymous_variant	3362	exon1			GGCGGCGGCCAAC	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.126G>T	1.37:g.19992372G>T		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	23	8	0.347826	NM_000871	Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																			G|0.970;T|0.030	0.030	strong		0.711	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	19992372	G	T	19992372	2	4	22	1	0	0	0	0	0	0	0	1	7451	1103	39	4		4	HTR6	1	19992372	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42310	19992372	229258249	197	5305										
TMCO4	255104	hgsc.bcm.edu	37	chr1	20009837	20009837	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagggcaggcagcctgggGccagcaagagccccttctcg	16	14	1	1	rs116650784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:20009837G>C	ENST00000294543.6	-	16	1842	c.1601C>G	c.(1600-1602)gCc>gGc	p.A534G	TMCO4_ENST00000375127.1_Missense_Mutation_p.A534G|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.A494G	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	534						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCAGCCTGGGGCCAGCAAGAG	0.672													G|||	115	0.0229633	0.0802	0.013	5008	,	,		16781	0.0		0.0	False		,,,				2504	0.0				p.A534G		Atlas-SNP	.											.	TMCO4	46	.	0			c.C1601G						PASS	.	G	GLY/ALA	310,4096	135.3+/-171.4	14,282,1907	30	33	32		1601	5.1	1	1	dbSNP_132	32	6,8594	5.0+/-18.6	0,6,4294	no	missense	TMCO4	NM_181719.4	60	14,288,6201	CC,CG,GG		0.0698,7.0359,2.4296	possibly-damaging	534/635	20009837	316,12690	2203	4300	6503	SO:0001583	missense	255104	exon16			CCTGGGGCCAGCA		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1601C>G	1.37:g.20009837G>C	ENSP00000294543:p.Ala534Gly	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	201	95	0.472637	NM_181719	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	CCDS198.1	41	0.018772893772893772	36	0.07317073170731707	5	0.013812154696132596	0	0.0	0	0.0	G	14.56	2.573196	0.45902	0.070359	6.98E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.34275	1.39;1.41;1.37	5.11	5.11	0.69529	.	0.134780	0.33959	N	0.004400	T	0.02047	0.0064	L	0.32530	0.975	0.31140	N	0.706765	P;P;B	0.43231	0.473;0.801;0.42	B;B;B	0.35353	0.056;0.201;0.061	T	0.02070	-1.1219	10	0.39692	T	0.17	-0.7187	15.6348	0.76944	0.0:0.0:1.0:0.0	.	118;534;494	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	G	534;534;494	ENSP00000294543:A534G;ENSP00000364269:A534G;ENSP00000364264:A494G	ENSP00000294543:A534G	A	-	2	0	TMCO4	19882424	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.016000	0.40971	2.532000	0.85374	0.563000	0.77884	GCC	G|0.975;C|0.025	0.025	strong		0.672	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		C	20009837	G	C	20009837	3	2	22	1	0	0	0	0	1	0	0	0	15995	1203	42	4	307	4	TMCO4	1	20009837	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17465	20009837	229240784	198	5306										
RNF186	54546	hgsc.bcm.edu	37	chr1	20141283	20141283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccagctgccccaccacCgcctcatggtcgcgcaggct	12	18	1	0	rs1541184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:20141283C>T	ENST00000375121.2	-	1	488	c.312G>A	c.(310-312)gcG>gcA	p.A104A	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	104						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCACCGCCTCATGGT	0.672													C|||	760	0.151757	0.1346	0.268	5008	,	,		17074	0.1776		0.0497	False		,,,				2504	0.1708				p.A104A		Atlas-SNP	.											.	RNF186	14	.	0			c.G312A						PASS	.	C		470,3936	213.1+/-232.8	31,408,1764	40	45	43		312	-9.4	0	1	dbSNP_88	43	371,8229	117.0+/-176.6	9,353,3938	no	coding-synonymous	RNF186	NM_019062.1		40,761,5702	TT,TC,CC		4.314,10.6673,6.4662		104/228	20141283	841,12165	2203	4300	6503	SO:0001819	synonymous_variant	54546	exon1			CACCACCGCCTCA		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.312G>A	1.37:g.20141283C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	116	67	0.577586	NM_019062	Q53GE0	Silent	SNP	ENST00000375121.2	37	CCDS199.1																																																																																			C|0.912;T|0.088	0.088	strong		0.672	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		T	20141283	C	T	20141283	2	4	22	1	0	0	0	0	0	0	0	1	13469	639	23	1		1	RNF186	1	20141283	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	131446	20141283	229109338	199	5307										
RNF186	54546	hgsc.bcm.edu	37	chr1	20141528	20141528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccccagcaggggccacagCggtggtggttgtggtggctc	17	12	0	0	rs1541185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:20141528C>T	ENST00000375121.2	-	1	243	c.67G>A	c.(67-69)Gct>Act	p.A23T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	23			A -> T (in dbSNP:rs1541185).			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCCACAGCGGTGGTGGTT	0.647													C|||	1445	0.288538	0.2511	0.3761	5008	,	,		17996	0.3323		0.2416	False		,,,				2504	0.2802				p.A23T		Atlas-SNP	.											.	RNF186	14	.	0			c.G67A						PASS	.	C	THR/ALA	998,3408		108,782,1313	43	48	47		67	-5.3	0	1	dbSNP_88	47	2077,6523		230,1617,2453	yes	missense	RNF186	NM_019062.1	58	338,2399,3766	TT,TC,CC		24.1512,22.6509,23.6429	possibly-damaging	23/228	20141528	3075,9931	2203	4300	6503	SO:0001583	missense	54546	exon1			CCACAGCGGTGGT		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.67G>A	1.37:g.20141528C>T	ENSP00000364263:p.Ala23Thr	Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	276	150	0.543478	NM_019062	Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	CCDS199.1	659	0.3017399267399267	129	0.2621951219512195	142	0.39226519337016574	200	0.34965034965034963	188	0.24802110817941952	C	17.26	3.343486	0.61073	0.226509	0.241512	ENSG00000178828	ENST00000375121	T	0.30714	1.52	5.51	-5.27	0.02763	.	0.864179	0.09858	N	0.746555	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	B	0.31817	0.341	B	0.19148	0.024	T	0.37753	-0.9692	9	0.56958	D	0.05	0.1393	9.0371	0.36293	0.0:0.3286:0.1038:0.5676	rs1541185;rs52827467;rs58741288;rs1541185	23	Q9NXI6	RN186_HUMAN	T	23	ENSP00000364263:A23T	ENSP00000364263:A23T	A	-	1	0	RNF186	20014115	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.405000	0.07196	-0.859000	0.04105	-0.291000	0.09656	GCT	C|0.735;T|0.265	0.265	strong		0.647	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		T	20141528	C	T	20141528	3	4	22	1	0	0	0	0	1	0	0	0	13469	768	27	1	620	1	RNF186	1	20141528	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	245	20141528	229109093	200	5308										
CDA	978	hgsc.bcm.edu	37	chr1	20945055	20945055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaggacctgcagaagacCcagtgacagccagagaatgc	12	12	0	5	rs1048977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:20945055C>T	ENST00000375071.3	+	4	617	c.435C>T	c.(433-435)acC>acT	p.T145T	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	145					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.T145T(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGCAGAAGACCCAGTGACAGC	0.587													C|||	1558	0.311102	0.379	0.317	5008	,	,		18751	0.244		0.3231	False		,,,				2504	0.272				p.T145T	Pancreas(74;49 1356 2772 27818 40529)	Atlas-SNP	.											CDA,NS,carcinoma,0,1	CDA	19	1	1	Substitution - coding silent(1)	stomach(1)	c.C435T						PASS	.	C		1744,2662	518.0+/-369.6	349,1046,808	71	61	65		435	1.7	0	1	dbSNP_86	65	2708,5892	431.7+/-356.9	429,1850,2021	no	coding-synonymous	CDA	NM_001785.2		778,2896,2829	TT,TC,CC		31.4884,39.5824,34.2304		145/147	20945055	4452,8554	2203	4300	6503	SO:0001819	synonymous_variant	978	exon4			GAAGACCCAGTGA	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.435C>T	1.37:g.20945055C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	39	0.414894	NM_001785		Silent	SNP	ENST00000375071.3	37	CCDS210.1																																																																																			C|0.671;T|0.329	0.329	strong		0.587	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		T	20945055	C	T	20945055	2	4	22	1	0	0	0	0	0	0	0	1	3052	610	22	2		2	CDA	1	20945055	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	803527	20945055	228305566	201	5309										
PINK1	65018	hgsc.bcm.edu	37	chr1	20975047	20975047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggctgctgcctggctgaTgagagcatcggcctgcagtt	14	10	0	2	rs45499398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:20975047T>C	ENST00000321556.4	+	6	1267	c.1173T>C	c.(1171-1173)gaT>gaC	p.D391D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTGGCTGATGAGAGCATCG	0.607													T|||	50	0.00998403	0.0356	0.0043	5008	,	,		19352	0.0		0.0	False		,,,				2504	0.0				p.D391D	Esophageal Squamous(145;853 1803 8146 34412 35011)	Atlas-SNP	.											.	PINK1	37	.	0			c.T1173C						PASS	.	T		157,4249	107.8+/-146.2	6,145,2052	65	57	60		1173	-5.2	0	1	dbSNP_127	60	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PINK1	NM_032409.2		6,147,6350	CC,CT,TT		0.0233,3.5633,1.2225		391/582	20975047	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	65018	exon6			GGCTGATGAGAGC	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1173T>C	1.37:g.20975047T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	101	52	0.514852	NM_032409	Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	CCDS211.1																																																																																			T|0.989;C|0.011	0.011	strong		0.607	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		C	20975047	T	C	20975047	2	2	22	1	0	0	0	0	0	0	0	1	11932	1461	51	2		2	PINK1	1	20975047	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29992	20975047	228275574	202	5310										
KIF17	57576	hgsc.bcm.edu	37	chr1	21011346	21011346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacgggcagcgggtcatcAgtcagcactgccacctccat	10	15	3	0	rs12028811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21011346A>G	ENST00000247986.2	-	10	2497	c.2187T>C	c.(2185-2187)acT>acC	p.T729T	KIF17_ENST00000400463.3_Silent_p.T729T|KIF17_ENST00000375044.1_Silent_p.T629T|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	729					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCGGGTCATCAGTCAGCACTG	0.697													G|||	1129	0.225439	0.3116	0.1455	5008	,	,		16866	0.3353		0.0855	False		,,,				2504	0.1963				p.T729T		Atlas-SNP	.											KIF17,caecum,carcinoma,-1,1	KIF17	130	1	0			c.T2187C						scavenged	.	G	,	1193,3201		170,853,1174	53	43	46		2187,2187	-7.8	0	1	dbSNP_120	46	755,7827		35,685,3571	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	205,1538,4745	GG,GA,AA		8.7975,27.1507,15.0123	,	729/1029,729/1030	21011346	1948,11028	2197	4291	6488	SO:0001819	synonymous_variant	57576	exon10			GTCATCAGTCAGC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2187T>C	1.37:g.21011346A>G		Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	201	91	0.452736	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																			A|0.831;G|0.169	0.169	strong		0.697	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		G	21011346	A	G	21011346	2	3	22	1	0	0	0	0	0	0	0	1	8279	175	7	3		3	KIF17	1	21011346	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36299	21011346	228239275	203	5311										
KIF17	57576	hgsc.bcm.edu	37	chr1	21030956	21030956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctgacaggctgctgggGctcatctgctgtgtcaggat	13	12	3	1	rs56750936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21030956G>T	ENST00000247986.2	-	5	1417	c.1107C>A	c.(1105-1107)agC>agA	p.S369R	KIF17_ENST00000400463.3_Missense_Mutation_p.S369R|KIF17_ENST00000375044.1_Missense_Mutation_p.S269R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	369			S -> R (in dbSNP:rs56750936).		ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGCTGCTGGGGCTCATCTGCT	0.607													G|||	135	0.0269569	0.0961	0.0101	5008	,	,		14173	0.0		0.0	False		,,,				2504	0.001				p.S369R		Atlas-SNP	.											.	KIF17	130	.	0			c.C1107A						PASS	.	G	ARG/SER,ARG/SER	369,4037	188.5+/-214.9	14,341,1848	85	73	77		1107,1107	3.4	1	1	dbSNP_129	77	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	KIF17	NM_001122819.1,NM_020816.2	110,110	14,347,6142	TT,TG,GG		0.0698,8.3749,2.8833	benign,benign	369/1029,369/1030	21030956	375,12631	2203	4300	6503	SO:0001583	missense	57576	exon5			GCTGGGGCTCATC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1107C>A	1.37:g.21030956G>T	ENSP00000247986:p.Ser369Arg	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	126	121	0.960317	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	61	0.027930402930402932	57	0.11585365853658537	4	0.011049723756906077	0	0.0	0	0.0	G	2.171	-0.389993	0.04932	0.083749	6.98E-4	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.70986	-0.53;-0.44;-0.44	5.26	3.4	0.38934	.	0.959805	0.08472	U	0.940858	T	0.01287	0.0042	N	0.22421	0.69	0.09310	N	1	B;B	0.30406	0.278;0.007	B;B	0.33960	0.173;0.011	T	0.01762	-1.1279	10	0.19590	T	0.45	.	8.9324	0.35680	0.2408:0.0:0.7592:0.0	rs56750936;rs61731590	369;369	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	R	269;369;369	ENSP00000364184:S269R;ENSP00000383311:S369R;ENSP00000247986:S369R	ENSP00000247986:S369R	S	-	3	2	KIF17	20903543	0.011000	0.17503	0.984000	0.44739	0.078000	0.17371	0.251000	0.18257	0.733000	0.32492	-0.448000	0.05591	AGC	G|0.968;T|0.032	0.032	strong		0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21030956	G	T	21030956	3	4	22	1	0	0	0	0	1	0	0	0	8279	1194	42	4	2026	4	KIF17	1	21030956	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19610	21030956	228219665	204	5312										
EIF4G3	8672	hgsc.bcm.edu	37	chr1	21177800	21177800	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgctgttcctctccacAtccacacctcctgtgagctg	7	16	2	1	rs2230572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21177800A>T	ENST00000264211.8	-	22	3749	c.3555T>A	c.(3553-3555)gaT>gaA	p.D1185E	EIF4G3_ENST00000602326.1_Missense_Mutation_p.D1191E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1191E|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D789E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1185E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D905E|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D675E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1185			D -> E (in dbSNP:rs2230572).		cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCTCTCCACATCCACACCTC	0.498													A|||	14	0.00279553	0.0091	0.0029	5008	,	,		16789	0.0		0.0	False		,,,				2504	0.0				p.D1221E		Atlas-SNP	.											EIF4G3_ENST00000374937,NS,carcinoma,-2,2	EIF4G3	300	2	0			c.T3663A						PASS	.	A	GLU/ASP,GLU/ASP,GLU/ASP	50,4356	52.9+/-88.7	0,50,2153	163	147	152		3663,3573,3555	-7.4	0	1	dbSNP_98	152	0,8600		0,0,4300	yes	missense,missense,missense	EIF4G3	NM_001198801.1,NM_001198802.1,NM_003760.4	45,45,45	0,50,6453	TT,TA,AA		0.0,1.1348,0.3844	benign,benign,benign	1221/1622,1191/1592,1185/1586	21177800	50,12956	2203	4300	6503	SO:0001583	missense	8672	exon26			CTCCACATCCACA	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3555T>A	1.37:g.21177800A>T	ENSP00000264211:p.Asp1185Glu	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	197	101	0.51269	NM_001198801	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	A	14.94	2.685816	0.47991	0.011348	0.0	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.06849	3.87;3.87;3.68;3.25;3.87;3.55	5.73	-7.44	0.01379	.	0.243758	0.46758	N	0.000265	T	0.01222	0.0040	N	0.14661	0.345	0.26519	N	0.974465	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.004;0.002	T	0.39035	-0.9633	10	0.07644	T	0.81	-6.5184	6.1684	0.20404	0.2584:0.1981:0.4652:0.0783	rs2230572;rs35634957	1380;905;789;1191;1185	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	E	1185;1381;1185;905;675;1191;789	ENSP00000264211:D1185E;ENSP00000383274:D1185E;ENSP00000364071:D905E;ENSP00000442010:D675E;ENSP00000364073:D1191E;ENSP00000444693:D789E	ENSP00000264211:D1185E	D	-	3	2	EIF4G3	21050387	0.000000	0.05858	0.006000	0.13384	0.482000	0.33219	-2.045000	0.01410	-1.357000	0.02180	0.482000	0.46254	GAT	A|0.995;T|0.005	0.005	strong		0.498	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		T	21177800	A	T	21177800	3	4	22	1	0	0	0	0	1	0	0	0	5038	214	8	5	1242	5	EIF4G3	1	21177800	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	146844	21177800	228072821	205	5313										
NBPF3	84224	hgsc.bcm.edu	37	chr1	21795287	21795287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagaaatcaacaagaaatcGcgcccccagctggcagagaa	9	12	1	3	rs10157037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21795287G>A	ENST00000318249.5	+	3	590	c.240G>A	c.(238-240)tcG>tcA	p.S80S	NBPF3_ENST00000342104.5_Silent_p.S80S|NBPF3_ENST00000318220.6_Silent_p.S24S|NBPF3_ENST00000454000.2_Intron	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	80						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAAGAAATCGCGCCCCCAGC	0.502											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	267	0.0533147	0.1467	0.0951	5008	,	,		17981	0.001		0.002	False		,,,				2504	0.0041				p.K80K		Atlas-SNP	.											.	NBPF3	55	.	0			c.A240A						PASS	.	G		498,3908		32,434,1737	85	99	94		240	-2.3	0	1	dbSNP_119	94	57,8543		1,55,4244	no	coding-synonymous	NBPF3	NM_032264.2		33,489,5981	AA,AG,GG		0.6628,11.3028,4.2673		80/634	21795287	555,12451	2203	4300	6503	SO:0001819	synonymous_variant	84224	exon3			GAAATCGCGCCCC	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.240G>A	1.37:g.21795287G>A		Somatic	195	0	0	751	WXS	Illumina HiSeq	Phase_I	191	95	0.497382	NM_001256416	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																			G|0.953;A|0.047	0.047	strong		0.502	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		A	21795287	G	A	21795287	2	1	22	1	0	0	0	0	0	0	0	1	10197	1074	38	1		1	NBPF3	1	21795287	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	617487	21795287	227455334	206	5314										
NBPF3	84224	hgsc.bcm.edu	37	chr1	21801436	21801444	+	Splice_Site	DEL	GTCTCCCAG	GTCTCCCAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaagaaaaagggccagtGtctcccaggtaatgccatgg					rs139002241|rs570380722|rs372317136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GTCTCCCAG	GTCTCCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21801436_21801444delGTCTCCCAG	ENST00000318249.5	+	8	1334_1342	c.984_992delGTCTCCCAG	c.(982-993)gtgtctcccagg>gtg	p.SPR329del	NBPF3_ENST00000454000.2_Splice_Site_p.SPR259del|NBPF3_ENST00000342104.5_Splice_Site_p.SPR329del|NBPF3_ENST00000318220.6_Splice_Site_p.SPR273del	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	329	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGGGCCAGTGTCTCCCAGGTAATGCCAT	0.388														277	0.0553115	0.1551	0.0937	5008	,	,		21818	0.001		0.002	False		,,,				2504	0.0041				p.328_331del		Pindel,Atlas-Indel	.											.	NBPF3	55	.	0			c.983_991del						PASS	.			506,3760		32,442,1659						-1.6	0		dbSNP_134	214	59,8193		1,57,4068	no	coding-near-splice	NBPF3	NM_032264.2		33,499,5727	A1A1,A1R,RR		0.715,11.8612,4.5135				565,11953				SO:0001630	splice_region_variant	84224	exon8			.	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.992+1GTCTCCCAG>-	1.37:g.21801436_21801444delGTCTCCCAG		Somatic	85	.	.		WXS	Illumina HiSeq	Phase_I	88	17	0.193	NM_032264	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	In_Frame_Del	DEL	ENST00000318249.5	37	CCDS216.1																																																																																			GTCTCCCAG|0.948;-|0.052	0.052	strong		0.388	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264	In_Frame_Del	-	21801444	GTCTCCCAG	-	21801436	8	5	22	1	0	1	0	1	0	0	1	0	10197	1364	48	0	1010	0	NBPF3	1	21801436	Splice_Site	DEL	GTCTCCCAG	TCGA-G8-6324-01A-11D-2210-10	6149	21801436	227449185	207	5315										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21932598	21932598	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcggggttgttgggcgcGaagctcccgctgtggctggt	19	9	0	0	rs150973141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21932598G>A	ENST00000374765.4	-	18	1589	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	RAP1GAP_ENST00000374761.2_Silent_p.F494F|RAP1GAP_ENST00000374763.2_Silent_p.F463F|RAP1GAP_ENST00000542643.2_Silent_p.F463F|RAP1GAP_ENST00000290101.4_Silent_p.F527F	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	463					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGTTGGGCGCGAAGCTCCCGC	0.682																																					p.F527F		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.C1581T						PASS	.	G	,,	7,4383		0,7,2188	55	33	40		1389,1581,1389	-2.1	0.1	1	dbSNP_134	40	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	0,7,6484	AA,AG,GG		0.0,0.1595,0.0539	,,	463/682,527/728,463/664	21932598	7,12975	2195	4296	6491	SO:0001819	synonymous_variant	5909	exon18			GGGCGCGAAGCTC	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1389C>T	1.37:g.21932598G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	114	50	0.438596	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			G|0.999;A|0.001	0.001	strong		0.682	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		A	21932598	G	A	21932598	2	1	22	1	0	0	0	0	0	0	0	1	13037	1049	37	1		1	RAP1GAP	1	21932598	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131162	21932598	227318023	208	5316										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21945530	21945530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctactttgaggggcggCgggaaggagcagcgttgttc	16	10	0	1	rs77539762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21945530C>T	ENST00000374765.4	-	5	254	c.54G>A	c.(52-54)ccG>ccA	p.P18P	RAP1GAP_ENST00000374761.2_Silent_p.P49P|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Silent_p.P18P|RAP1GAP_ENST00000542643.2_Silent_p.P18P|RAP1GAP_ENST00000290101.4_Silent_p.P82P	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	18					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGAGGGGCGGCGGGAAGGAGC	0.647													c|||	270	0.0539137	0.1452	0.0303	5008	,	,		15468	0.0		0.0378	False		,,,				2504	0.0194				p.P82P		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.G246A						PASS	.	T	,,	538,3864		31,476,1694	79	59	66		54,246,54	-7.2	0.8	1	dbSNP_131	66	295,8301		4,287,4007	no	coding-synonymous,coding-synonymous,coding-synonymous	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	35,763,5701	TT,TC,CC		3.4318,12.2217,6.4087	,,	18/682,82/728,18/664	21945530	833,12165	2201	4298	6499	SO:0001819	synonymous_variant	5909	exon5			GGGCGGCGGGAAG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.54G>A	1.37:g.21945530C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			C|0.939;T|0.061	0.061	strong		0.647	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21945530	C	T	21945530	2	4	22	1	0	0	0	0	0	0	0	1	13037	755	27	1		1	RAP1GAP	1	21945530	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12932	21945530	227305091	209	5317										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21952884	21952884	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgctggttctgcccatcGctcctcctggaagagaaaga	11	11	1	2	rs1130564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:21952884G>A	ENST00000374765.4	-	0	95				RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000290101.4_Silent_p.S29S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCTGCCCATCGCTCCTCCTGG	0.552													A|||	158	0.0315495	0.0507	0.0331	5008	,	,		17417	0.0		0.0517	False		,,,				2504	0.0164				p.S29S		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.C87T						PASS	.	A	,,	125,3011		1,123,1444	111	108	109		,87,	4.9	1	1	dbSNP_130	109	386,6778		9,368,3205	no	utr-5,coding-synonymous,utr-5	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	10,491,4649	AA,AG,GG		5.3881,3.986,4.9612	,,	,29/728,	21952884	511,9789	1568	3582	5150	SO:0001623	5_prime_UTR_variant	5909	exon3			CCCATCGCTCCTC	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.-106C>T	1.37:g.21952884G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			G|0.955;A|0.045	0.045	strong		0.552	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		A	21952884	G	A	21952884	1	1	22	0	1	0	0	0	0	0	0	0	13037	1078	38	1		1	RAP1GAP	1	21952884	5'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7354	21952884	227297737	210	5318										
CELA3A	10136	hgsc.bcm.edu	37	chr1	22328207	22328207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccctcctccttgtggccGttggtaagaccccaacctgt	9	15	0	1	rs11541414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:22328207G>A	ENST00000290122.3	+	1	59	c.40G>A	c.(40-42)Gtt>Att	p.V14I	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Missense_Mutation_p.V14I	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	14					cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTTGTGGCCGTTGGTAAGAC	0.537													G|||	284	0.0567093	0.1755	0.0187	5008	,	,		18400	0.0258		0.0109	False		,,,				2504	0.002				p.V14I		Atlas-SNP	.											.	CELA3A	35	.	0			c.G40A						PASS	.	G	ILE/VAL	543,3853	244.7+/-253.9	48,447,1703	198	197	197		40	1.4	1	1	dbSNP_120	197	97,8503	54.8+/-115.7	2,93,4205	no	missense	CELA3A	NM_005747.4	29	50,540,5908	AA,AG,GG		1.1279,12.3521,4.9246		14/271	22328207	640,12356	2198	4300	6498	SO:0001583	missense	10136	exon1			GTGGCCGTTGGTA	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.40G>A	1.37:g.22328207G>A	ENSP00000290122:p.Val14Ile	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	264	135	0.511364	NM_005747	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	121	0.0554029304029304	91	0.18495934959349594	5	0.013812154696132596	21	0.03671328671328671	4	0.005277044854881266	G	4.477	0.088340	0.08583	0.123521	0.011279	ENSG00000142789	ENST00000290122;ENST00000374663	D;D	0.92911	-2.37;-3.13	3.38	1.44	0.22558	.	.	.	.	.	T	0.00552	0.0018	N	0.13098	0.295	0.58432	P	6.999999999979245E-6	B	0.16802	0.019	B	0.04013	0.001	T	0.21211	-1.0252	8	0.22706	T	0.39	-4.0293	4.8356	0.13464	0.0:0.6486:0.224:0.1274	rs11541414;rs12129372	14	P09093	CEL3A_HUMAN	I	14	ENSP00000290122:V14I;ENSP00000363795:V14I	ENSP00000290122:V14I	V	+	1	0	CELA3A	22200794	0.882000	0.30256	0.999000	0.59377	0.226000	0.24999	-0.001000	0.12947	0.265000	0.21872	-1.210000	0.01631	GTT	G|0.950;A|0.050	0.050	strong		0.537	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		A	22328207	G	A	22328207	3	1	22	1	0	0	0	0	1	0	0	0	3213	1145	40	1	42	1	CELA3A	1	22328207	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	375323	22328207	226922414	211	5319										
WNT4	54361	hgsc.bcm.edu	37	chr1	22446768	22446768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcctgctcacagaagtcGgggctaggctccaagtacac	11	12	1	1	rs34228276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:22446768G>A	ENST00000290167.6	-	5	874	c.831C>T	c.(829-831)ccC>ccT	p.P277P	WNT4_ENST00000542383.1_Silent_p.P222P	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	277			P -> L (in dbSNP:rs34228276).		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACAGAAGTCGGGGCTAGGCT	0.647													G|||	117	0.0233626	0.0582	0.0173	5008	,	,		19089	0.003		0.0229	False		,,,				2504	0.002				p.P277P		Atlas-SNP	.											.	WNT4	33	.	0			c.C831T						PASS	.	G		288,4118	158.9+/-191.5	8,272,1923	121	102	108		831	-6.9	0.9	1	dbSNP_126	108	180,8420	82.0+/-144.6	0,180,4120	no	coding-synonymous	WNT4	NM_030761.4		8,452,6043	AA,AG,GG		2.093,6.5365,3.5983		277/352	22446768	468,12538	2203	4300	6503	SO:0001819	synonymous_variant	54361	exon5			GAAGTCGGGGCTA	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.831C>T	1.37:g.22446768G>A		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	204	103	0.504902	NM_030761	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	CCDS223.1																																																																																			G|0.968;A|0.032	0.032	strong		0.647	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			A	22446768	G	A	22446768	2	1	22	1	0	0	0	0	0	0	0	1	17387	1103	39	1		1	WNT4	1	22446768	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118561	22446768	226803853	212	5320										
ZBTB40	9923	hgsc.bcm.edu	37	chr1	22816687	22816687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgatgtacacgggcaaActacctgtgggcaagcacaa	11	9	0	1	rs115103344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:22816687A>G	ENST00000375647.4	+	2	453	c.246A>G	c.(244-246)aaA>aaG	p.K82K	ZBTB40_ENST00000374651.4_Silent_p.K82K|ZBTB40_ENST00000404138.1_Silent_p.K82K	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACACGGGCAAACTACCTGTGG	0.473													A|||	31	0.0061901	0.0204	0.0043	5008	,	,		21552	0.0		0.001	False		,,,				2504	0.0				p.K82K		Atlas-SNP	.											.	ZBTB40	87	.	0			c.A246G						PASS	.	A	,	74,4332	65.3+/-102.7	0,74,2129	90	85	87		246,246	-3	0.6	1	dbSNP_132	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZBTB40	NM_001083621.1,NM_014870.3	,	0,75,6428	GG,GA,AA		0.0116,1.6795,0.5767	,	82/1240,82/1240	22816687	75,12931	2203	4300	6503	SO:0001819	synonymous_variant	9923	exon3			GGGCAAACTACCT	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.246A>G	1.37:g.22816687A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	122	62	0.508197	NM_001083621	O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	CCDS224.1																																																																																			A|0.993;G|0.007	0.007	strong		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		G	22816687	A	G	22816687	2	3	22	1	0	0	0	0	0	0	0	1	17539	40	2	2		2	ZBTB40	1	22816687	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	369919	22816687	226433934	213	5321										
ZBTB40	9923	hgsc.bcm.edu	37	chr1	22835677	22835677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccaacagaagattgagtAcaagctctttacctcggagg	9	10	1	3	rs209729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:22835677A>G	ENST00000375647.4	+	9	1991	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	ZBTB40_ENST00000404138.1_Missense_Mutation_p.Y595C|ZBTB40_ENST00000374651.4_Missense_Mutation_p.Y483C	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	595			Y -> C (in dbSNP:rs209729). {ECO:0000269|PubMed:9455484}.		bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGATTGAGTACAAGCTCTTT	0.473													G|||	4119	0.822484	0.9395	0.8429	5008	,	,		17714	0.8929		0.7167	False		,,,				2504	0.6861				p.Y595C		Atlas-SNP	.											.	ZBTB40	87	.	0			c.A1784G						PASS	.	G	CYS/TYR,CYS/TYR	3983,423	204.8+/-226.9	1808,367,28	134	134	134		1784,1784	0.9	0	1	dbSNP_79	134	6185,2415	401.6+/-347.2	2231,1723,346	yes	missense,missense	ZBTB40	NM_001083621.1,NM_014870.3	194,194	4039,2090,374	GG,GA,AA		28.0814,9.6005,21.8207	benign,benign	595/1240,595/1240	22835677	10168,2838	2203	4300	6503	SO:0001583	missense	9923	exon10			TTGAGTACAAGCT	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1784A>G	1.37:g.22835677A>G	ENSP00000364798:p.Tyr595Cys	Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	172	171	0.994186	NM_001083621	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	1831	0.8383699633699634	460	0.9349593495934959	298	0.8232044198895028	520	0.9090909090909091	553	0.7295514511873351	G	9.371	1.070475	0.20147	0.903995	0.719186	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.40476	1.03;1.03;1.03	5.95	0.925	0.19424	.	0.817059	0.10496	N	0.667812	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13656	-1.0501	9	0.33141	T	0.24	0.3201	2.8661	0.05602	0.2256:0.0705:0.3909:0.313	rs209729;rs535560;rs17277764;rs52789802;rs61611872;rs209729	483;595	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	C	595;595;483	ENSP00000384527:Y595C;ENSP00000364798:Y595C;ENSP00000363782:Y483C	ENSP00000363782:Y483C	Y	+	2	0	ZBTB40	22708264	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.223000	0.17719	-0.333000	0.08476	-1.068000	0.02270	TAC	G|0.812;N|0.000	0.812	strong		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		G	22835677	A	G	22835677	3	3	22	1	0	0	0	0	1	0	0	0	17539	391	14	2	1814	2	ZBTB40	1	22835677	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18990	22835677	226414944	214	5322										
EPHB2	2048	hgsc.bcm.edu	37	chr1	23222008	23222008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagttgccactcatcatCggctcctcggccgctggcct	11	15	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23222008C>T	ENST00000400191.3	+	8	1653	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	EPHB2_ENST00000374630.3_Silent_p.I545I|EPHB2_ENST00000374632.3_Silent_p.I545I|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.I540I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	545					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACTCATCATCGGCTCCTCGG	0.592																																					p.I545I		Atlas-SNP	.											.	EPHB2	257	.	0			c.C1635T						PASS	.						139	120	126					1																	23222008		2203	4300	6503	SO:0001819	synonymous_variant	2048	exon8			CATCATCGGCTCC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1635C>T	1.37:g.23222008C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	115	59	0.513043	NM_004442	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																				.	.	none		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		T	23222008	C	T	23222008	2	4	22	1	0	0	0	0	0	0	0	1	5175	874	31	1		1	EPHB2	1	23222008	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	386331	23222008	226028613	215	5323										
KDM1A	23028	hgsc.bcm.edu	37	chr1	23395037	23395037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcggattttcaggttccTaaagagaaagatgaaatggt	10	5	1	3	rs145865107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23395037T>C	ENST00000356634.3	+	9	1262	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P	KDM1A_ENST00000542151.1_Silent_p.P395P|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.P395P	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	371	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCAGGTTCCTAAAGAGAAAG	0.348													T|||	22	0.00439297	0.0151	0.0029	5008	,	,		18338	0.0		0.0	False		,,,				2504	0.0				p.P395P		Atlas-SNP	.											.	KDM1A	49	.	0			c.T1185C						PASS	.	T	,	41,4365	43.8+/-77.6	0,41,2162	72	68	69		1185,1113	0.5	1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KDM1A	NM_001009999.2,NM_015013.3	,	0,42,6461	CC,CT,TT		0.0116,0.9305,0.3229	,	395/877,371/853	23395037	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	23028	exon11			GGTTCCTAAAGAG	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1113T>C	1.37:g.23395037T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	130	71	0.546154	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	CCDS30627.1																																																																																			T|0.998;C|0.002	0.002	strong		0.348	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		C	23395037	T	C	23395037	2	2	22	1	0	0	0	0	0	0	0	1	8122	1509	53	3		3	KDM1A	1	23395037	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173029	23395037	225855584	216	5324										
KDM1A	23028	hgsc.bcm.edu	37	chr1	23409674	23409674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttttcccctaaaatagccGattccacgactcttctttgc	4	14	2	0	rs137940710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23409674G>A	ENST00000356634.3	+	19	2525	c.2376G>A	c.(2374-2376)ccG>ccA	p.P792P	KDM1A_ENST00000542151.1_Silent_p.P816P|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.P816P	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	792	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TAAAATAGCCGATTCCACGAC	0.438													G|||	21	0.00419329	0.0144	0.0029	5008	,	,		19038	0.0		0.0	False		,,,				2504	0.0				p.P816P		Atlas-SNP	.											.	KDM1A	49	.	0			c.G2448A						PASS	.	G	,	24,4382	30.8+/-60.4	0,24,2179	75	71	72		2448,2376	-1.3	1	1	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KDM1A	NM_001009999.2,NM_015013.3	,	0,24,6479	AA,AG,GG		0.0,0.5447,0.1845	,	816/877,792/853	23409674	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	23028	exon21			ATAGCCGATTCCA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2376G>A	1.37:g.23409674G>A		Somatic	318	1	0.00314465		WXS	Illumina HiSeq	Phase_I	279	140	0.501792	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	CCDS30627.1																																																																																			G|0.999;A|0.001	0.001	strong		0.438	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		A	23409674	G	A	23409674	2	1	22	1	0	0	0	0	0	0	0	1	8122	1045	37	1		1	KDM1A	1	23409674	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14637	23409674	225840947	217	5325										
KDM1A	23028	hgsc.bcm.edu	37	chr1	23409803	23409803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgggggccatgtatacGctgcctcgccaggccacacc	11	14	0	0	rs150794224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23409803G>A	ENST00000356634.3	+	19	2654	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	KDM1A_ENST00000542151.1_Silent_p.T859T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.T859T	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	835	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCATGTATACGCTGCCTCGCC	0.562													G|||	23	0.00459265	0.0159	0.0029	5008	,	,		18489	0.0		0.0	False		,,,				2504	0.0				p.T859T		Atlas-SNP	.											.	KDM1A	49	.	0			c.G2577A						PASS	.	G	,	43,4363	46.7+/-81.2	0,43,2160	84	70	75		2577,2505	-6.8	0	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KDM1A	NM_001009999.2,NM_015013.3	,	0,44,6459	AA,AG,GG		0.0116,0.9759,0.3383	,	859/877,835/853	23409803	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	23028	exon21			GTATACGCTGCCT	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2505G>A	1.37:g.23409803G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	69	43	0.623188	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	CCDS30627.1																																																																																			G|0.997;A|0.003	0.003	strong		0.562	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		A	23409803	G	A	23409803	2	1	22	1	0	0	0	0	0	0	0	1	8122	1074	38	1		1	KDM1A	1	23409803	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129	23409803	225840818	218	5326										
LUZP1	7798	hgsc.bcm.edu	37	chr1	23415518	23415518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcagttgcctgtagacaCtgagtgtacagtcttcccct	10	11	1	2	rs12066671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23415518C>T	ENST00000302291.4	-	5	3902	c.3101G>A	c.(3100-3102)aGt>aAt	p.S1034N	RP1-184J9.2_ENST00000427154.1_RNA|LUZP1_ENST00000374623.3_Missense_Mutation_p.S1034N|LUZP1_ENST00000418342.1_Missense_Mutation_p.S1034N			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1034			S -> N (in dbSNP:rs12066671).		artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGTAGACACTGAGTGTACA	0.552													C|||	381	0.0760783	0.2693	0.0331	5008	,	,		19540	0.0		0.002	False		,,,				2504	0.0				p.S1034N		Atlas-SNP	.											.	LUZP1	83	.	0			c.G3101A						PASS	.	C	ASN/SER,ASN/SER	921,3485	353.1+/-312.0	102,717,1384	117	109	112		3101,3101	2.3	0	1	dbSNP_120	112	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	46,46	102,725,5676	TT,TC,CC		0.093,20.9033,7.1429	benign,benign	1034/1077,1034/1077	23415518	929,12077	2203	4300	6503	SO:0001583	missense	7798	exon5			TAGACACTGAGTG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.3101G>A	1.37:g.23415518C>T	ENSP00000303758:p.Ser1034Asn	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	328	166	0.506098	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	125	0.05723443223443223	115	0.23373983739837398	10	0.027624309392265192	0	0.0	0	0.0	C	7.770	0.707239	0.15239	0.209033	9.3E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291	T;T;T	0.13420	2.59;2.59;2.59	5.53	2.34	0.29019	.	0.527164	0.17464	N	0.173327	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.30281	0.275	B	0.27076	0.076	T	0.44697	-0.9311	9	0.39692	T	0.17	.	9.0334	0.36273	0.1575:0.5558:0.2867:0.0	rs12066671;rs52805088;rs12066671	1034	Q86V48	LUZP1_HUMAN	N	1034	ENSP00000393460:S1034N;ENSP00000363752:S1034N;ENSP00000303758:S1034N	ENSP00000303758:S1034N	S	-	2	0	LUZP1	23288105	0.000000	0.05858	0.008000	0.14137	0.279000	0.26890	0.390000	0.20768	0.750000	0.32877	0.655000	0.94253	AGT	C|0.925;T|0.075	0.075	strong		0.552	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		T	23415518	C	T	23415518	3	4	22	1	0	0	0	0	1	0	0	0	9086	565	20	2	133	2	LUZP1	1	23415518	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5715	23415518	225835103	219	5327										
LUZP1	7798	hgsc.bcm.edu	37	chr1	23418576	23418576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtatctgggagctccatggTattggtggaggctctgacag	16	7	2	1	rs144862656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23418576T>C	ENST00000302291.4	-	4	2980	c.2179A>G	c.(2179-2181)Acc>Gcc	p.T727A	LUZP1_ENST00000374623.3_Missense_Mutation_p.T727A|LUZP1_ENST00000418342.1_Missense_Mutation_p.T727A|LUZP1_ENST00000314174.5_Missense_Mutation_p.T727A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	727					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGCTCCATGGTATTGGTGGAG	0.493													C|||	23	0.00459265	0.0159	0.0029	5008	,	,		20483	0.0		0.0	False		,,,				2504	0.0				p.T727A		Atlas-SNP	.											.	LUZP1	83	.	0			c.A2179G						PASS	.	C	ALA/THR,ALA/THR	41,4365	799.2+/-415.5	0,41,2162	182	199	193		2179,2179	3.8	0.4	1	dbSNP_134	193	1,8599	812.4+/-407.1	0,1,4299	yes	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	58,58	0,42,6461	CC,CT,TT		0.0116,0.9305,0.3229	benign,benign	727/1077,727/1077	23418576	42,12964	2203	4300	6503	SO:0001583	missense	7798	exon4			CCATGGTATTGGT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2179A>G	1.37:g.23418576T>C	ENSP00000303758:p.Thr727Ala	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	126	59	0.468254	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.197318	0.00299	0.009305	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.12039	2.94;2.94;2.94;2.72	4.74	3.81	0.43845	.	0.350958	0.20869	N	0.084207	T	0.01905	0.0060	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38628	-0.9652	10	0.23891	T	0.37	.	4.1464	0.10217	0.3497:0.476:0.0:0.1743	.	727;727	Q86V48-2;Q86V48	.;LUZP1_HUMAN	A	727	ENSP00000393460:T727A;ENSP00000363752:T727A;ENSP00000303758:T727A;ENSP00000313705:T727A	ENSP00000303758:T727A	T	-	1	0	LUZP1	23291163	0.087000	0.21565	0.421000	0.26609	0.137000	0.21094	0.043000	0.13971	0.605000	0.29947	-0.330000	0.08379	ACC	T|0.997;C|0.003	0.003	strong		0.493	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		C	23418576	T	C	23418576	3	2	22	1	0	0	0	0	1	0	0	0	9086	1638	57	2	1059	2	LUZP1	1	23418576	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3058	23418576	225832045	220	5328										
LUZP1	7798	hgsc.bcm.edu	37	chr1	23419806	23419806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaggtcgttatttttggActtcattttcttaagctctt	7	7	3	1	rs12091554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23419806A>C	ENST00000302291.4	-	4	1750	c.949T>G	c.(949-951)Tcc>Gcc	p.S317A	LUZP1_ENST00000418342.1_Missense_Mutation_p.S317A|LUZP1_ENST00000314174.5_Missense_Mutation_p.S317A|LUZP1_ENST00000374623.3_Missense_Mutation_p.S317A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	317			S -> A (in dbSNP:rs12091554).		artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTATTTTTGGACTTCATTTTC	0.338													C|||	242	0.0483227	0.1702	0.0245	5008	,	,		21716	0.0		0.0	False		,,,				2504	0.0				p.S317A		Atlas-SNP	.											.	LUZP1	83	.	0			c.T949G						PASS	.	C	ALA/SER,ALA/SER	637,3769	765.9+/-413.4	65,507,1631	164	156	159		949,949	5.2	1	1	dbSNP_120	159	12,8588	818.3+/-406.9	0,12,4288	yes	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	99,99	65,519,5919	CC,CA,AA		0.1395,14.4576,4.99	benign,benign	317/1077,317/1077	23419806	649,12357	2203	4300	6503	SO:0001583	missense	7798	exon4			TTTTGGACTTCAT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.949T>G	1.37:g.23419806A>C	ENSP00000303758:p.Ser317Ala	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	169	79	0.467456	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	82	0.037545787545787544	73	0.1483739837398374	9	0.024861878453038673	0	0.0	0	0.0	C	1.368	-0.586747	0.03827	0.144576	0.001395	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.12361	2.92;2.92;2.92;2.69	6.08	5.16	0.70880	.	0.000000	0.48286	N	0.000191	T	0.00039	0.0001	N	0.00729	-1.24	0.47065	P	6.960000000000299E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34453	-0.9828	9	0.11485	T	0.65	.	10.4106	0.44291	0.1361:0.7953:0.0:0.0686	rs12091554;rs52806883;rs12091554	317;317	Q86V48-2;Q86V48	.;LUZP1_HUMAN	A	317	ENSP00000393460:S317A;ENSP00000363752:S317A;ENSP00000303758:S317A;ENSP00000313705:S317A	ENSP00000303758:S317A	S	-	1	0	LUZP1	23292393	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.887000	0.56197	1.603000	0.50134	-0.121000	0.15023	TCC	A|0.952;C|0.048	0.048	strong		0.338	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		C	23419806	A	C	23419806	3	2	22	1	0	0	0	0	1	0	0	0	9086	275	10	5	2289	5	LUZP1	1	23419806	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1230	23419806	225830815	221	5329										
LUZP1	7798	hgsc.bcm.edu	37	chr1	23419914	23419914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgttgtcttcctgattgcGgttcttttcattttctgatt	7	7	4	2	rs142425004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:23419914G>A	ENST00000302291.4	-	4	1642	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	LUZP1_ENST00000314174.5_Missense_Mutation_p.R281C|LUZP1_ENST00000418342.1_Missense_Mutation_p.R281C|LUZP1_ENST00000374623.3_Missense_Mutation_p.R281C			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	281					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCCTGATTGCGGTTCTTTTCA	0.388													G|||	20	0.00399361	0.0106	0.0014	5008	,	,		20491	0.005		0.0	False		,,,				2504	0.0				p.R281C		Atlas-SNP	.											LUZP1,NS,carcinoma,+1,1	LUZP1	83	1	0			c.C841T						PASS	.	G	CYS/ARG,CYS/ARG	28,4378	35.2+/-66.4	0,28,2175	217	203	208		841,841	4.1	1	1	dbSNP_134	208	0,8600		0,0,4300	yes	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	180,180	0,28,6475	AA,AG,GG		0.0,0.6355,0.2153	probably-damaging,probably-damaging	281/1077,281/1077	23419914	28,12978	2203	4300	6503	SO:0001583	missense	7798	exon4			GATTGCGGTTCTT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.841C>T	1.37:g.23419914G>A	ENSP00000303758:p.Arg281Cys	Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	313	147	0.469649	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	16.53	3.149333	0.57151	0.006355	0.0	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15372	2.64;2.64;2.64;2.43	6.08	4.13	0.48395	.	0.000000	0.39909	N	0.001226	T	0.08980	0.0222	L	0.42245	1.32	0.42205	D	0.991782	P;P	0.41929	0.765;0.765	B;B	0.28139	0.086;0.086	T	0.08046	-1.0741	10	0.44086	T	0.13	.	13.9909	0.64367	0.0:0.0:0.5289:0.4711	.	281;281	Q86V48-2;Q86V48	.;LUZP1_HUMAN	C	281	ENSP00000393460:R281C;ENSP00000363752:R281C;ENSP00000303758:R281C;ENSP00000313705:R281C	ENSP00000303758:R281C	R	-	1	0	LUZP1	23292501	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.802000	0.38853	1.554000	0.49487	0.655000	0.94253	CGC	G|0.999;A|0.001	0.001	strong		0.388	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		A	23419914	G	A	23419914	3	1	22	1	0	0	0	0	1	0	0	0	9086	1116	39	1	2397	1	LUZP1	1	23419914	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108	23419914	225830707	222	5330										
TCEB3	6924	hgsc.bcm.edu	37	chr1	24077554	24077554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggtcatgagaggagagaTgagagaaagaggtgtcacag	16	5	2	5	rs35397069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24077554T>C	ENST00000418390.2	+	4	808	c.537T>C	c.(535-537)gaT>gaC	p.D179D	TCEB3_ENST00000609199.1_Silent_p.D153D	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	179					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAGGAGAGATGAGAGAAAGA	0.498													C|||	487	0.0972444	0.351	0.0303	5008	,	,		19697	0.0		0.001	False		,,,				2504	0.001				p.D179D		Atlas-SNP	.											.	TCEB3	61	.	0			c.T537C						PASS	.	C		1242,3164	704.4+/-407.1	172,898,1133	105	97	100		537	-11.1	0.1	1	dbSNP_126	100	22,8578	818.3+/-406.9	0,22,4278	no	coding-synonymous	TCEB3	NM_003198.2		172,920,5411	CC,CT,TT		0.2558,28.1888,9.7186		179/799	24077554	1264,11742	2203	4300	6503	SO:0001819	synonymous_variant	6924	exon4			GAGAGATGAGAGA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.537T>C	1.37:g.24077554T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	159	68	0.427673	NM_003198	B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	CCDS239.2																																																																																			T|0.913;C|0.087	0.087	strong		0.498	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		C	24077554	T	C	24077554	2	2	22	1	0	0	0	0	0	0	0	1	15678	1461	51	2		2	TCEB3	1	24077554	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	657640	24077554	225173067	223	5331										
TCEB3	6924	hgsc.bcm.edu	37	chr1	24078234	24078234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaaagtcaaaactaattTggatagaaagtcactgggct	11	5	2	1	rs34394004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24078234T>C	ENST00000418390.2	+	4	1488	c.1217T>C	c.(1216-1218)tTg>tCg	p.L406S	TCEB3_ENST00000609199.1_Missense_Mutation_p.L380S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	406					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAAACTAATTTGGATAGAAAG	0.448											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	279	0.0557109	0.202	0.0144	5008	,	,		18505	0.0		0.001	False		,,,				2504	0.001				p.L406S		Atlas-SNP	.											.	TCEB3	61	.	0			c.T1217C						PASS	.	C	SER/LEU	741,3665	746.0+/-411.7	66,609,1528	97	109	105		1217	-2.6	0	1	dbSNP_126	105	16,8584	812.1+/-407.1	0,16,4284	yes	missense	TCEB3	NM_003198.2	145	66,625,5812	CC,CT,TT		0.186,16.818,5.8204	benign	406/799	24078234	757,12249	2203	4300	6503	SO:0001583	missense	6924	exon4			CTAATTTGGATAG	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1217T>C	1.37:g.24078234T>C	ENSP00000395574:p.Leu406Ser	Somatic	63	0	0	768	WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_003198	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	102	0.046703296703296704	94	0.1910569105691057	8	0.022099447513812154	0	0.0	0	0.0	C	0.011	-1.697264	0.00725	0.16818	0.00186	ENSG00000011007	ENST00000418390	T	0.06768	3.26	5.85	-2.64	0.06114	.	1.391920	0.04481	N	0.377838	T	0.00012	0.0000	N	0.01003	-1.06	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45116	-0.9283	9	0.11794	T	0.64	2.5335	6.9989	0.24799	0.1849:0.3127:0.0:0.5025	rs34394004	406	Q14241	ELOA1_HUMAN	S	406	ENSP00000395574:L406S	ENSP00000395574:L406S	L	+	2	0	TCEB3	23950821	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.017000	0.01445	-1.183000	0.02723	-1.073000	0.02249	TTG	T|0.935;C|0.065	0.065	strong		0.448	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		C	24078234	T	C	24078234	3	2	22	1	0	0	0	0	1	0	0	0	15678	1821	63	2	1231	2	TCEB3	1	24078234	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	680	24078234	225172387	224	5332										
FUCA1	2517	hgsc.bcm.edu	37	chr1	24189740	24189740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccactctaagagtgagtgGtatagtccatagcggatgtt	11	7	1	2	rs541724746		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24189740G>A	ENST00000374479.3	-	3	553	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	182					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGAGTGAGTGGTATAGTCCAT	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17635	0.0		0.0	False		,,,				2504	0.0				p.Y182Y		Atlas-SNP	.											.	FUCA1	24	.	0			c.C546T						PASS	.						94	88	90					1																	24189740		2203	4300	6503	SO:0001819	synonymous_variant	2517	exon3			TGAGTGGTATAGT	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.546C>T	1.37:g.24189740G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_000147	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP	ENST00000374479.3	37	CCDS244.2																																																																																			.	.	none		0.358	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		A	24189740	G	A	24189740	2	1	22	1	0	0	0	0	0	0	0	1	6094	1256	44	2		2	FUCA1	1	24189740	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111506	24189740	225060881	225	5333										
MYOM3	127294	hgsc.bcm.edu	37	chr1	24383873	24383873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacatgctcttcagctccTtgggctcgtccccgtgcttg	10	15	3	0	rs59805085	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24383873T>C	ENST00000374434.3	-	37	4457	c.4295A>G	c.(4294-4296)aAg>aGg	p.K1432R	MYOM3_ENST00000338909.5_Missense_Mutation_p.K325R|MYOM3_ENST00000330966.7_Missense_Mutation_p.K1435R|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1432						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAGCTCCTTGGGCTCGTC	0.577													T|||	277	0.0553115	0.2005	0.0159	5008	,	,		21478	0.0		0.001	False		,,,				2504	0.0				p.K1432R		Atlas-SNP	.											.	MYOM3	131	.	0			c.A4295G						PASS	.	T	ARG/LYS	524,3714		36,452,1631	75	74	74		4295	2.9	1	1	dbSNP_129	74	9,8473		0,9,4232	yes	missense	MYOM3	NM_152372.3	26	36,461,5863	CC,CT,TT		0.1061,12.3643,4.1903	benign	1432/1438	24383873	533,12187	2119	4241	6360	SO:0001583	missense	127294	exon37			AGCTCCTTGGGCT	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4295A>G	1.37:g.24383873T>C	ENSP00000363557:p.Lys1432Arg	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	158	83	0.525316	NM_152372	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	85	0.03891941391941392	77	0.1565040650406504	8	0.022099447513812154	0	0.0	0	0.0	T	1.496	-0.553376	0.03996	0.123643	0.001061	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.56103	0.48;0.56;0.56	5.24	2.88	0.33553	.	0.543380	0.19217	N	0.119765	T	0.00109	0.0003	N	0.22421	0.69	0.41520	P	0.01160899999999998	B;B	0.20459	0.01;0.045	B;B	0.17722	0.004;0.019	T	0.09707	-1.0662	9	0.06494	T	0.89	.	3.3931	0.07297	0.1436:0.0766:0.1321:0.6476	rs59805085	1432;325	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	R	325;1432;1435;326	ENSP00000342689:K325R;ENSP00000363557:K1432R;ENSP00000332670:K1435R	ENSP00000332670:K1435R	K	-	2	0	MYOM3	24256460	0.000000	0.05858	0.997000	0.53966	0.370000	0.29829	0.160000	0.16462	0.795000	0.33922	0.533000	0.62120	AAG	T|0.975;C|0.025	0.025	strong		0.577	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		C	24383873	T	C	24383873	3	2	22	1	0	0	0	0	1	0	0	0	10093	1609	56	3	22	3	MYOM3	1	24383873	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	194133	24383873	224866748	226	5334										
MYOM3	127294	hgsc.bcm.edu	37	chr1	24421474	24421474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attccacgctggggccaaacGtcgatcctggcgtgggaatg	14	11	0	0	rs6678540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24421474G>A	ENST00000374434.3	-	9	959	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MYOM3_ENST00000330966.7_Missense_Mutation_p.T267M|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.T266M	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	266			T -> M (in dbSNP:rs6678540). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.			M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGGCCAAACGTCGATCCTGG	0.532													A|||	1602	0.319888	0.2746	0.2911	5008	,	,		18851	0.3383		0.4771	False		,,,				2504	0.2209				p.T266M		Atlas-SNP	.											.	MYOM3	131	.	0			c.C797T						PASS	.	A	MET/THR	1045,2801		156,733,1034	45	46	45		797	4.1	0.7	1	dbSNP_116	45	3747,4489		855,2037,1226	yes	missense	MYOM3	NM_152372.3	81	1011,2770,2260	AA,AG,GG		45.4954,27.1711,39.6623	benign	266/1438	24421474	4792,7290	1923	4118	6041	SO:0001583	missense	127294	exon9			CCAAACGTCGATC	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.797C>T	1.37:g.24421474G>A	ENSP00000363557:p.Thr266Met	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	120	66	0.55	NM_152372	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	820	0.37545787545787546	141	0.2865853658536585	116	0.32044198895027626	179	0.3129370629370629	384	0.5065963060686016	A	7.540	0.660523	0.14645	0.271711	0.454954	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.55930	0.53;0.53;0.49	5.18	4.06	0.47325	.	0.579783	0.19017	N	0.124919	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.0	T	0.46484	-0.9188	9	0.12430	T	0.62	.	7.2915	0.26368	0.8218:0.0:0.1782:0.0	rs6678540;rs17184616;rs52794525;rs58002450;rs6678540	266;266	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	M	266;267;266	ENSP00000363557:T266M;ENSP00000332670:T267M;ENSP00000328415:T266M	ENSP00000328415:T266M	T	-	2	0	MYOM3	24294061	0.108000	0.22018	0.674000	0.29902	0.591000	0.36615	2.024000	0.41049	0.810000	0.34279	-0.381000	0.06696	ACG	G|0.633;A|0.367	0.367	strong		0.532	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24421474	G	A	24421474	3	1	22	1	0	0	0	0	1	0	0	0	10093	1145	40	1	3632	1	MYOM3	1	24421474	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37601	24421474	224829147	227	5335										
MYOM3	127294	hgsc.bcm.edu	37	chr1	24421950	24421950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttttgaagatctctgaatCgaagccagcatccttcccca	6	13	1	3	rs4319261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24421950C>G	ENST00000374434.3	-	8	934	c.772G>C	c.(772-774)Gat>Cat	p.D258H	MYOM3_ENST00000330966.7_Missense_Mutation_p.D259H|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.D258H	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	258			D -> H (in dbSNP:rs4319261). {ECO:0000269|PubMed:17974005}.			M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATCTCTGAATCGAAGCCAGCA	0.507													C|||	2056	0.410543	0.5416	0.3386	5008	,	,		18793	0.377		0.497	False		,,,				2504	0.2301				p.D258H		Atlas-SNP	.											.	MYOM3	131	.	0			c.G772C						PASS	.	C	HIS/ASP	1877,1889		489,899,495	110	113	112		772	5.8	1	1	dbSNP_111	112	3907,4327		929,2049,1139	yes	missense	MYOM3	NM_152372.3	81	1418,2948,1634	GG,GC,CC		47.4496,49.8407,48.2	benign	258/1438	24421950	5784,6216	1883	4117	6000	SO:0001583	missense	127294	exon8			CTGAATCGAAGCC	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.772G>C	1.37:g.24421950C>G	ENSP00000363557:p.Asp258His	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_152372	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	1004	0.4597069597069597	275	0.5589430894308943	136	0.3756906077348066	200	0.34965034965034963	393	0.5184696569920845	C	8.135	0.783923	0.16189	0.498407	0.474496	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.58358	0.38;0.39;0.34	5.81	5.81	0.92471	.	0.367568	0.32918	N	0.005498	T	0.00012	0.0000	N	0.20530	0.585	0.24931	P	0.99191579	B;D	0.76494	0.235;0.999	B;P	0.60117	0.097;0.869	T	0.48547	-0.9026	9	0.24483	T	0.36	.	17.0405	0.86488	0.0:1.0:0.0:0.0	rs4319261;rs4319261	258;258	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	H	258;259;258	ENSP00000363557:D258H;ENSP00000332670:D259H;ENSP00000328415:D258H	ENSP00000328415:D258H	D	-	1	0	MYOM3	24294537	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.329000	0.59260	2.764000	0.94973	0.558000	0.71614	GAT	C|0.542;G|0.458	0.458	strong		0.507	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		G	24421950	C	G	24421950	3	3	22	1	0	0	0	0	1	0	0	0	10093	884	31	4	3661	4	MYOM3	1	24421950	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	476	24421950	224828671	228	5336										
GRHL3	57822	hgsc.bcm.edu	37	chr1	24658063	24658063	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtcaatggagatgatgaCagtgttgcggccttgagctt	14	6	1	5	rs2486668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24658063C>G	ENST00000350501.5	+	2	292	c.165C>G	c.(163-165)gaC>gaG	p.D55E	GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.D55E|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.D60E|GRHL3_ENST00000356046.2_Missense_Mutation_p.D9E	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	55	Transcription activation.		D -> E (in dbSNP:rs2486668).		central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D60E(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGATGATGACAGTGTTGCGG	0.498													C|||	894	0.178514	0.2277	0.1311	5008	,	,		21488	0.1944		0.164	False		,,,				2504	0.1442				p.D60E		Atlas-SNP	.											GRHL3,NS,carcinoma,0,1	GRHL3	69	1	1	Substitution - Missense(1)	stomach(1)	c.C180G						PASS	.	C	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	911,3495	350.5+/-310.9	79,753,1371	228	184	199		165,165,180,27	0.3	1	1	dbSNP_100	199	1414,7186	272.2+/-289.9	121,1172,3007	yes	missense,missense,missense,missense	GRHL3	NM_198174.2,NM_198173.2,NM_021180.3,NM_001195010.1	45,45,45,45	200,1925,4378	GG,GC,CC		16.4419,20.6764,17.8764	benign,benign,benign,benign	55/627,55/603,60/608,9/557	24658063	2325,10681	2203	4300	6503	SO:0001583	missense	57822	exon2			TGATGACAGTGTT	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.165C>G	1.37:g.24658063C>G	ENSP00000288955:p.Asp55Glu	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	195	195	1	NM_021180	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	381	0.17445054945054944	96	0.1951219512195122	54	0.14917127071823205	101	0.17657342657342656	130	0.17150395778364116	C	16.02	3.004367	0.54254	0.206764	0.164419	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000356046;ENST00000524724;ENST00000236255	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.93	0.337	0.15966	.	0.081063	0.53938	N	0.000042	T	0.00039	0.0001	L	0.47016	1.485	0.09310	P	1.0	B;B	0.10296	0.003;0.001	B;B	0.14578	0.01;0.011	T	0.06716	-1.0811	9	0.39692	T	0.17	-29.9612	2.9343	0.05809	0.2248:0.4219:0.2306:0.1228	rs2486668;rs17256946;rs52824550;rs2486668	60;55	Q8TE85-2;G3XAF0	.;.	E	55;55;9;9;60	ENSP00000354943:D55E;ENSP00000288955:D55E;ENSP00000348333:D9E;ENSP00000431290:D9E;ENSP00000236255:D60E	ENSP00000236255:D60E	D	+	3	2	GRHL3	24530650	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.647000	0.24812	0.353000	0.24079	0.655000	0.94253	GAC	C|0.823;G|0.177	0.177	strong		0.498	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		G	24658063	C	G	24658063	3	3	22	1	0	0	0	0	1	0	0	0	6765	477	17	4	207	4	GRHL3	1	24658063	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	236113	24658063	224592558	229	5337										
GRHL3	57822	hgsc.bcm.edu	37	chr1	24664220	24664220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaggccagttctaccccGtcaccctgcggaccccagca	8	18	2	0	rs145470039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24664220G>A	ENST00000350501.5	+	6	908	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	GRHL3_ENST00000236255.4_Missense_Mutation_p.V266I|GRHL3_ENST00000342072.4_Missense_Mutation_p.V168I|GRHL3_ENST00000361548.4_Missense_Mutation_p.V261I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V215I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	261					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V266I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTTCTACCCCGTCACCCTGCG	0.587													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		20270	0.0		0.0	False		,,,				2504	0.0				p.V266I		Atlas-SNP	.											GRHL3_ENST00000350501,NS,carcinoma,0,4	GRHL3	69	4	1	Substitution - Missense(1)	ovary(1)	c.G796A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	16,4390	23.3+/-48.9	0,16,2187	98	84	89		781,781,796,643	4.1	0.8	1	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense,missense,missense	GRHL3	NM_198174.2,NM_198173.2,NM_021180.3,NM_001195010.1	29,29,29,29	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign,benign,benign,benign	261/627,261/603,266/608,215/557	24664220	16,12990	2203	4300	6503	SO:0001583	missense	57822	exon6			TACCCCGTCACCC	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.781G>A	1.37:g.24664220G>A	ENSP00000288955:p.Val261Ile	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_021180	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	4.028	0.002793	0.07866	0.003631	0.0	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.97	4.12	0.48240	.	0.237878	0.42964	N	0.000623	T	0.03390	0.0098	N	0.02103	-0.685	0.32683	N	0.515251	B;B;B	0.18310	0.013;0.003;0.027	B;B;B	0.14578	0.008;0.006;0.011	T	0.30937	-0.9961	10	0.02654	T	1	-28.162	9.5371	0.39229	0.2343:0.0:0.7657:0.0	.	215;266;261	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	261;168;261;215;266	ENSP00000354943:V261I;ENSP00000340543:V168I;ENSP00000288955:V261I;ENSP00000348333:V215I;ENSP00000236255:V266I	ENSP00000236255:V266I	V	+	1	0	GRHL3	24536807	0.796000	0.28864	0.822000	0.32727	0.992000	0.81027	1.375000	0.34295	0.868000	0.35678	0.655000	0.94253	GTC	G|0.997;A|0.003	0.003	strong		0.587	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		A	24664220	G	A	24664220	3	1	22	1	0	0	0	0	1	0	0	0	6765	1145	40	1	839	1	GRHL3	1	24664220	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6157	24664220	224586401	230	5338										
C1orf201	90529	hgsc.bcm.edu	37	chr1	24710405	24710405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcaccattgagggaaacAtgcaagttcctttcttggac	8	10	2	1	rs11538189	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:24710405A>G	ENST00000374409.1	-	4	532	c.278T>C	c.(277-279)aTg>aCg	p.M93T	STPG1_ENST00000440416.1_Missense_Mutation_p.M46T|STPG1_ENST00000337248.4_Missense_Mutation_p.M93T|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.M46T	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	93				M -> T (in Ref. 2; AAH35061). {ECO:0000305}.	apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGGGAAACATGCAAGTTCC	0.413													A|||	545	0.108826	0.2277	0.1052	5008	,	,		23154	0.002		0.1133	False		,,,				2504	0.0562				p.M93T		Atlas-SNP	.											.	.	.	.	0			c.T278C						PASS	.	A	THR/MET,THR/MET,THR/MET,THR/MET	986,3420	370.8+/-319.7	115,756,1332	182	174	177		278,278,2,137	1.9	0.4	1	dbSNP_120	177	1062,7538	224.8+/-261.1	61,940,3299	yes	missense,missense,missense,missense	C1orf201	NM_001199012.1,NM_001199013.1,NM_001199014.1,NM_178122.4	81,81,81,81	176,1696,4631	GG,GA,AA		12.3488,22.3786,15.7466	benign,benign,benign,benign	93/335,93/335,1/243,46/288	24710405	2048,10958	2203	4300	6503	SO:0001583	missense	90529	exon4			GGAAACATGCAAG	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.278T>C	1.37:g.24710405A>G	ENSP00000363530:p.Met93Thr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_001199012	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	227|227	0.10393772893772894|0.10393772893772894	94|94	0.1910569105691057|0.1910569105691057	38|38	0.10497237569060773|0.10497237569060773	0|0	0.0|0.0	95|95	0.12532981530343007|0.12532981530343007	A|A	0.015|0.015	-1.557354|-1.557354	0.00910|0.00910	0.223786|0.223786	0.123488|0.123488	ENSG00000001460|ENSG00000001460	ENST00000435187|ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986	.|.	.|.	.|.	6.03|6.03	1.88|1.88	0.25563|0.25563	.|.	.|0.713850	.|0.13631	.|N	.|0.373758	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00538|0.00538	-1.39|-1.39	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.38607|0.38607	-0.9653|-0.9653	4|8	.|0.11794	.|T	.|0.64	-53.1322|-53.1322	5.7789|5.7789	0.18295|0.18295	0.2232:0.1405:0.6363:0.0|0.2232:0.1405:0.6363:0.0	rs12090888;rs52816239;rs12090888|rs12090888;rs52816239;rs12090888	.|93;46	.|Q5TH74;Q5TH74-3	.|CA201_HUMAN;.	R|T	70|93;46;46;93;93	.|.	.|ENSP00000003583:M46T	C|M	-|-	1|2	0|0	C1orf201|C1orf201	24582992|24582992	0.678000|0.678000	0.27586|0.27586	0.354000|0.354000	0.25760|0.25760	0.031000|0.031000	0.12232|0.12232	0.639000|0.639000	0.24690|0.24690	0.446000|0.446000	0.26666|0.26666	-0.904000|-0.904000	0.02843|0.02843	TGT|ATG	G|0.139;A|0.861	0.139	strong		0.413	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		G	24710405	A	G	24710405	3	3	22	1	0	0	0	0	1	0	0	0	2027	217	8	2	750	2	C1orf201	1	24710405	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46185	24710405	224540216	231	5339										
TMEM57	55219	hgsc.bcm.edu	37	chr1	25757607	25757607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgaagcggcggaacgcCgactgcagtaagctccgccg	15	12	0	1	rs114403991	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:25757607C>T	ENST00000374343.4	+	1	197	c.18C>T	c.(16-18)gcC>gcT	p.A6A	TMEM57_ENST00000399763.3_Silent_p.A6A|RHCE_ENST00000349320.3_5'Flank|TMEM57_ENST00000399766.3_Silent_p.A6A	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	6					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGAACGCCGACTGCAGTA	0.761													C|||	56	0.0111821	0.0371	0.0086	5008	,	,		5510	0.0		0.001	False		,,,				2504	0.0				p.A6A		Atlas-SNP	.											.	TMEM57	72	.	0			c.C18T						PASS	.	C		61,4291		0,61,2115	11	13	12		18	-0.5	1	1	dbSNP_132	12	1,8539		0,1,4269	no	coding-synonymous	TMEM57	NM_018202.4		0,62,6384	TT,TC,CC		0.0117,1.4017,0.4809		6/665	25757607	62,12830	2176	4270	6446	SO:0001819	synonymous_variant	55219	exon1			GAACGCCGACTGC	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.18C>T	1.37:g.25757607C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	55	34	0.618182	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	CCDS30638.1																																																																																			C|0.992;T|0.008	0.008	strong		0.761	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		T	25757607	C	T	25757607	2	4	22	1	0	0	0	0	0	0	0	1	16181	639	23	1		1	TMEM57	1	25757607	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1047202	25757607	223493014	232	5340										
MAN1C1	57134	hgsc.bcm.edu	37	chr1	25944741	25944741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaacgcattccggagccgTctccgccacccggtcctggg	11	17	2	0	rs11247857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:25944741T>C	ENST00000374332.4	+	1	783	c.453T>C	c.(451-453)cgT>cgC	p.R151R	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	151					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCCGGAGCCGTCTCCGCCACC	0.672													C|||	1202	0.240016	0.5719	0.2061	5008	,	,		13186	0.2133		0.0089	False		,,,				2504	0.0808				p.R151R		Atlas-SNP	.											.	MAN1C1	48	.	0			c.T453C						PASS	.	C		1432,2228		281,870,679	12	10	11		453	1.6	1	1	dbSNP_120	11	50,7478		2,46,3716	no	coding-synonymous	MAN1C1	NM_020379.2		283,916,4395	CC,CT,TT		0.6642,39.1257,13.2463		151/631	25944741	1482,9706	1830	3764	5594	SO:0001819	synonymous_variant	57134	exon1			GAGCCGTCTCCGC	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.453T>C	1.37:g.25944741T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_020379	A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	CCDS265.1																																																																																			T|0.815;C|0.185	0.185	strong		0.672	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		C	25944741	T	C	25944741	2	2	22	1	0	0	0	0	0	0	0	1	9213	1654	58	2		2	MAN1C1	1	25944741	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	187134	25944741	223305880	233	5341										
MAN1C1	57134	hgsc.bcm.edu	37	chr1	26080052	26080052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacgggaatcccaaagggCgtggtgagcttcaaaaggta	13	10	1	1	rs12073358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26080052C>T	ENST00000374332.4	+	5	1242	c.912C>T	c.(910-912)ggC>ggT	p.G304G	MAN1C1_ENST00000263979.3_Silent_p.G124G|MAN1C1_ENST00000374329.1_Silent_p.G75G|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	304					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCCCAAAGGGCGTGGTGAGCT	0.582													C|||	303	0.0605032	0.2179	0.0187	5008	,	,		18717	0.0		0.001	False		,,,				2504	0.001				p.G304G		Atlas-SNP	.											MAN1C1,NS,carcinoma,0,1	MAN1C1	48	1	0			c.C912T						PASS	.	C		659,3747	278.7+/-274.4	52,555,1596	46	44	45		912	-4.3	0.2	1	dbSNP_120	45	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous	MAN1C1	NM_020379.2		52,566,5885	TT,TC,CC		0.1279,14.9569,5.1515		304/631	26080052	670,12336	2203	4300	6503	SO:0001819	synonymous_variant	57134	exon5			AAAGGGCGTGGTG	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.912C>T	1.37:g.26080052C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_020379	A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	CCDS265.1																																																																																			C|0.953;T|0.047	0.047	strong		0.582	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		T	26080052	C	T	26080052	2	4	22	1	0	0	0	0	0	0	0	1	9213	755	27	1		1	MAN1C1	1	26080052	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	135311	26080052	223170569	234	5342										
EXTL1	2134	hgsc.bcm.edu	37	chr1	26357656	26357656	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatttttggaacatcagctCacccctcactgctgtggaac	9	12	3	0	rs2736831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26357656C>A	ENST00000374280.3	+	5	2002	c.1135C>A	c.(1135-1137)Cac>Aac	p.H379N	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	379			H -> N (in dbSNP:rs2736831). {ECO:0000269|PubMed:10480354, ECO:0000269|PubMed:10575224, ECO:0000269|PubMed:9037597}.		protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AACATCAGCTCACCCCTCACT	0.567													C|||	2976	0.594249	0.2027	0.732	5008	,	,		18516	0.75		0.6978	False		,,,				2504	0.7587				p.H379N		Atlas-SNP	.											.	EXTL1	61	.	0			c.C1135A						PASS	.	C	ASN/HIS	1276,3130	433.7+/-343.7	198,880,1125	118	112	114		1135	4.7	0	1	dbSNP_100	114	5833,2767	679.2+/-403.5	1980,1873,447	yes	missense	EXTL1	NM_004455.2	68	2178,2753,1572	AA,AC,CC		32.1744,28.9605,45.3406	possibly-damaging	379/677	26357656	7109,5897	2203	4300	6503	SO:0001583	missense	2134	exon5			TCAGCTCACCCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1135C>A	1.37:g.26357656C>A	ENSP00000363398:p.His379Asn	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_004455	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	1339	0.6130952380952381	115	0.23373983739837398	259	0.7154696132596685	419	0.7325174825174825	546	0.7203166226912929	C	22.0	4.233153	0.79688	0.289605	0.678256	ENSG00000158008	ENST00000374280	D	0.94862	-3.54	4.7	4.7	0.59300	.	0.331675	0.27500	N	0.019092	T	0.00012	0.0000	L	0.47716	1.5	0.33240	P	0.44294900000000004	B	0.18610	0.029	B	0.14023	0.01	T	0.48525	-0.9028	9	0.30854	T	0.27	-12.1318	16.6014	0.84816	0.0:1.0:0.0:0.0	rs2736831;rs11247847;rs58001292;rs11247847	379	Q92935	EXTL1_HUMAN	N	379	ENSP00000363398:H379N	ENSP00000363398:H379N	H	+	1	0	EXTL1	26230243	0.003000	0.15002	0.038000	0.18304	0.975000	0.68041	1.294000	0.33365	2.453000	0.82957	0.561000	0.74099	CAC	C|0.442;A|0.558	0.558	strong		0.567	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		A	26357656	C	A	26357656	3	1	22	1	0	0	0	0	1	0	0	0	5325	826	29	4	1153	4	EXTL1	1	26357656	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	277604	26357656	222892965	235	5343										
CNKSR1	10256	hgsc.bcm.edu	37	chr1	26508997	26508997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgtggctgggatctgccaCaacatcctggtctgctgccc	11	15	2	0	rs2802347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26508997C>T	ENST00000374253.5	+	6	585	c.546C>T	c.(544-546)caC>caT	p.H182H	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Silent_p.H182H|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	182					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGATCTGCCACAACATCCTGG	0.652													C|||	259	0.0517173	0.1846	0.0202	5008	,	,		17396	0.0		0.001	False		,,,				2504	0.0				p.H182H	NSCLC(180;1396 2109 28270 30756 34275)	Atlas-SNP	.											.	CNKSR1	66	.	0			c.C546T						PASS	.	C		702,3704	293.3+/-282.5	64,574,1565	65	65	65		546	2.4	1	1	dbSNP_100	65	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CNKSR1	NM_006314.2		64,578,5861	TT,TC,CC		0.0465,15.9328,5.4283		182/714	26508997	706,12300	2203	4300	6503	SO:0001819	synonymous_variant	10256	exon6			CTGCCACAACATC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.546C>T	1.37:g.26508997C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	182	93	0.510989	NM_006314	B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37		108	0.04945054945054945	98	0.1991869918699187	10	0.027624309392265192	0	0.0	0	0.0	C	13.82	2.352119	0.41700	0.159328	4.65E-4	ENSG00000142675	ENST00000422547	.	.	.	4.47	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999889351	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.2956	5.5452	0.17059	0.0:0.4831:0.4021:0.1148	rs2802347	.	.	.	X	170	.	ENSP00000390945:Q170X	Q	+	1	0	CNKSR1	26381584	0.230000	0.23740	0.998000	0.56505	0.271000	0.26615	0.419000	0.21247	1.068000	0.40764	0.650000	0.86243	CAA	C|0.940;T|0.060	0.060	strong		0.652	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26508997	C	T	26508997	2	4	22	1	0	0	0	0	0	0	0	1	3606	477	17	2		2	CNKSR1	1	26508997	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	151341	26508997	222741624	236	5344										
CCDC21	64793	hgsc.bcm.edu	37	chr1	26581981	26581981	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgaaagacaagaagaggcGaggaagtttgatattcctag	12	5	0	5	rs34867486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26581981G>A	ENST00000252992.4	+	4	659	c.528G>A	c.(526-528)gcG>gcA	p.A176A	CEP85_ENST00000451429.2_Silent_p.A125A	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	176						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAGAAGAGGCGAGGAAGTTTG	0.473													G|||	105	0.0209665	0.0749	0.0086	5008	,	,		21433	0.0		0.0	False		,,,				2504	0.0				p.A176A		Atlas-SNP	.											CEP85,NS,carcinoma,+2,1	CEP85	61	1	0			c.G528A						PASS	.	G		236,4170	141.1+/-176.5	3,230,1970	87	85	86		528	3.6	0.7	1	dbSNP_126	86	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous	CEP85	NM_022778.2		3,233,6267	AA,AG,GG		0.0349,5.3563,1.8376		176/763	26581981	239,12767	2203	4300	6503	SO:0001819	synonymous_variant	64793	exon4			AGAGGCGAGGAAG	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.528G>A	1.37:g.26581981G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	114	58	0.508772	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	CCDS277.1																																																																																			G|0.979;A|0.021	0.021	strong		0.473	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		A	26581981	G	A	26581981	2	1	22	1	0	0	0	0	0	0	0	1	2796	1045	37	1		1	CCDC21	1	26581981	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72984	26581981	222668640	237	5345										
CCDC21	64793	hgsc.bcm.edu	37	chr1	26596080	26596080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcctgaggcagagagaaGcagaattctcctccgctgga	12	10	1	4	rs7550997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26596080G>A	ENST00000252992.4	+	9	1755	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.A491T	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	542			A -> T (in dbSNP:rs7550997).			centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCAGAGAGAAGCAGAATTCTC	0.502													G|||	648	0.129393	0.2027	0.1052	5008	,	,		16924	0.0228		0.1889	False		,,,				2504	0.0961				p.A542T		Atlas-SNP	.											.	CEP85	61	.	0			c.G1624A						PASS	.	G	THR/ALA	701,3705	292.4+/-282.0	60,581,1562	59	57	58		1624	3.1	1	1	dbSNP_116	58	1432,7168	273.7+/-290.8	110,1212,2978	yes	missense	CEP85	NM_022778.2	58	170,1793,4540	AA,AG,GG		16.6512,15.9101,16.4001	benign	542/763	26596080	2133,10873	2203	4300	6503	SO:0001583	missense	64793	exon9			AGAGAAGCAGAAT	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1624G>A	1.37:g.26596080G>A	ENSP00000252992:p.Ala542Thr	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	68	24	0.352941	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	287	0.13141025641025642	80	0.16260162601626016	41	0.1132596685082873	12	0.02097902097902098	154	0.20316622691292877	G	8.915	0.959619	0.18507	0.159101	0.166512	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.10960	2.82;2.82	5.06	3.11	0.35812	.	0.570233	0.20173	N	0.097692	T	0.00012	0.0000	L	0.36672	1.1	0.44946	P	0.0020320000000000338	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.36261	-0.9755	9	0.27785	T	0.31	-2.0585	5.216	0.15342	0.193:0.2319:0.5751:0.0	rs7550997;rs17257183;rs35972494;rs59910526;rs7550997	491;542;542	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	T	491;542	ENSP00000417002:A491T;ENSP00000252992:A542T	ENSP00000252992:A542T	A	+	1	0	CEP85	26468667	0.981000	0.34729	1.000000	0.80357	0.126000	0.20510	0.154000	0.16343	1.365000	0.46057	0.561000	0.74099	GCA	G|0.849;A|0.151	0.151	strong		0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		A	26596080	G	A	26596080	3	1	22	1	0	0	0	0	1	0	0	0	2796	971	34	2	1654	2	CCDC21	1	26596080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14099	26596080	222654541	238	5346										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608873	26608873	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgggaccgggaccgggacTggggccgggaccgggaccgg					rs1134583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26608873T>A	ENST00000374222.1	-	16	1944	c.1480A>T	c.(1480-1482)Agt>Tgt	p.S494C	UBXN11_ENST00000314675.7_Missense_Mutation_p.S374C|UBXN11_ENST00000374217.2_Missense_Mutation_p.S461C|UBXN11_ENST00000374221.3_Missense_Mutation_p.S494C|UBXN11_ENST00000357089.4_Missense_Mutation_p.S461C|UBXN11_ENST00000374223.1_Missense_Mutation_p.S251C			Q5T124	UBX11_HUMAN	UBX domain protein 11	494	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggactggggccggga	0.711																																					p.S494C		Atlas-SNP	.											UBXN11,NS,carcinoma,0,1	UBXN11	54	1	1	Deletion - In frame(1)	ovary(1)	c.A1480T						scavenged	.						28	33	32					1																	26608873		1776	4034	5810	SO:0001583	missense	91544	exon16			CGGGACTGGGGCC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1480A>T	1.37:g.26608873T>A	ENSP00000363339:p.Ser494Cys	Somatic	40	6	0.15		WXS	Illumina HiSeq	Phase_I	41	18	0.439024	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275650	0.23307	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.19250	2.16;2.17;2.43;2.41;2.41;2.43	1.27	-0.135	0.13477	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	0.999997	P;P;P;P	0.50819	0.939;0.893;0.939;0.9	B;B;B;B	0.37601	0.187;0.187;0.254;0.129	T	0.21895	-1.0232	9	0.66056	D	0.02	.	5.0204	0.14358	0.0:0.3611:0.0:0.6389	rs1134583;rs17838089	461;456;374;494	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	C	374;251;461;494;494;461	ENSP00000324721:S374C;ENSP00000363340:S251C;ENSP00000349601:S461C;ENSP00000363338:S494C;ENSP00000363339:S494C;ENSP00000363334:S461C	ENSP00000324721:S374C	S	-	1	0	UBXN11	26481460	0.000000	0.05858	0.011000	0.14972	0.011000	0.07611	-1.315000	0.02713	-0.170000	0.10816	-0.582000	0.04134	AGT	T|0.870;A|0.130	0.130	strong		0.711	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608873	T	A	26608873	3	1	22	1	0	0	0	0	1	0	0	0	16910	1580	55	5	86	5	UBXN11	1	26608873	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12793	26608873	222641748	239	5347	107	3								
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608877	26608877	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccgggaccgggactgggGccgggaccgggaccgggaca					rs1134582|rs140364749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26608877G>A	ENST00000374222.1	-	16	1940	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	UBXN11_ENST00000357089.4_Silent_p.G459G|UBXN11_ENST00000374217.2_Silent_p.G459G|UBXN11_ENST00000374221.3_Silent_p.G492G|UBXN11_ENST00000314675.7_Silent_p.G372G|UBXN11_ENST00000374223.1_Silent_p.G249G			Q5T124	UBX11_HUMAN	UBX domain protein 11	492	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cgggactggggccgggaccgg	0.721																																					p.G492G		Atlas-SNP	.											UBXN11,NS,carcinoma,0,2	UBXN11	54	2	1	Deletion - In frame(1)	ovary(1)	c.C1476T						scavenged	.						33	40	38					1																	26608877		1787	4040	5827	SO:0001819	synonymous_variant	91544	exon16			ACTGGGGCCGGGA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1476C>T	1.37:g.26608877G>A		Somatic	50	5	0.1		WXS	Illumina HiSeq	Phase_I	43	15	0.348837	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																			G|0.870;A|0.130	0.130	strong		0.721	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608877	G	A	26608877	2	1	22	1	0	0	0	0	0	0	0	1	16910	1190	42	2		2	UBXN11	1	26608877	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	26608877	222641744	240	5348	107	3								
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608883	26608883	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccgggactggggccgggAccgggaccgggacagggacc					rs1134580|rs140364749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26608883A>G	ENST00000374222.1	-	16	1934	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	UBXN11_ENST00000357089.4_Silent_p.G457G|UBXN11_ENST00000374217.2_Silent_p.G457G|UBXN11_ENST00000374221.3_Silent_p.G490G|UBXN11_ENST00000314675.7_Silent_p.G370G|UBXN11_ENST00000374223.1_Silent_p.G247G			Q5T124	UBX11_HUMAN	UBX domain protein 11	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						tggggccgggaccgggaccgg	0.711																																					p.G490G		Atlas-SNP	.											UBXN11,NS,carcinoma,-2,2	UBXN11	54	2	1	Deletion - In frame(1)	ovary(1)	c.T1470C						PASS	.						33	42	39					1																	26608883		1797	4025	5822	SO:0001819	synonymous_variant	91544	exon16			GCCGGGACCGGGA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1470T>C	1.37:g.26608883A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	43	14	0.325581	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																			A|0.773;G|0.227	0.227	strong		0.711	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		G	26608883	A	G	26608883	2	3	22	1	0	0	0	0	0	0	0	1	16910	262	10	2		2	UBXN11	1	26608883	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	26608883	222641738	241	5349	107	3								
UBXN11	91544	hgsc.bcm.edu	37	chr1	26612460	26612460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtcaccctctaccaccaGctcactaagatcctgcaggc	8	16	3	1	rs11247900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26612460G>A	ENST00000374222.1	-	10	1092	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	UBXN11_ENST00000357089.4_Silent_p.L177L|UBXN11_ENST00000436301.2_Silent_p.L135L|UBXN11_ENST00000374217.2_Silent_p.L177L|UBXN11_ENST00000535108.1_Silent_p.L52L|UBXN11_ENST00000374221.3_Silent_p.L210L|UBXN11_ENST00000314675.7_Silent_p.L90L|UBXN11_ENST00000374223.1_5'UTR			Q5T124	UBX11_HUMAN	UBX domain protein 11	210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCTACCACCAGCTCACTAAGA	0.632											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	646	0.128994	0.202	0.1066	5008	,	,		17288	0.0228		0.1909	False		,,,				2504	0.092				p.L210L		Atlas-SNP	.											.	UBXN11	54	.	0			c.C628T						PASS	.	G	,,	591,3317		48,495,1411	38	41	40		268,529,628	2.9	1	1	dbSNP_120	40	1366,6934		103,1160,2887	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	151,1655,4298	AA,AG,GG		16.4578,15.1228,16.0305	,,	90/401,177/488,210/521	26612460	1957,10251	1954	4150	6104	SO:0001819	synonymous_variant	91544	exon10			CCACCAGCTCACT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.628C>T	1.37:g.26612460G>A		Somatic	136	0	0	788	WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																			G|0.862;A|0.138	0.138	strong		0.632	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26612460	G	A	26612460	2	1	22	1	0	0	0	0	0	0	0	1	16910	962	34	2		2	UBXN11	1	26612460	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3577	26612460	222638161	242	5350										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26620761	26620761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgagactgtcttgctcTctgagtcctcctggtccatg	10	13	3	2	rs6695966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26620761T>C	ENST00000374222.1	-	9	958	c.494A>G	c.(493-495)gAg>gGg	p.E165G	UBXN11_ENST00000357089.4_Missense_Mutation_p.E132G|UBXN11_ENST00000436301.2_Missense_Mutation_p.E90G|UBXN11_ENST00000374217.2_Missense_Mutation_p.E132G|UBXN11_ENST00000535108.1_Missense_Mutation_p.E7G|UBXN11_ENST00000374221.3_Missense_Mutation_p.E165G|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron			Q5T124	UBX11_HUMAN	UBX domain protein 11	165			E -> G (in dbSNP:rs6695966).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TGTCTTGCTCTCTGAGTCCTC	0.607													T|||	98	0.0195687	0.0696	0.0086	5008	,	,		18835	0.0		0.0	False		,,,				2504	0.0				p.E165G		Atlas-SNP	.											.	UBXN11	54	.	0			c.A494G						PASS	.	T	,GLY/GLU,GLY/GLU	200,3930		2,196,1867	99	98	98		,395,494	4.5	0.1	1	dbSNP_116	98	3,8407		0,3,4202	yes	intron,missense,missense	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,98,98	2,199,6069	CC,CT,TT		0.0357,4.8426,1.6188	,possibly-damaging,possibly-damaging	,132/488,165/521	26620761	203,12337	2065	4205	6270	SO:0001583	missense	91544	exon9			TTGCTCTCTGAGT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.494A>G	1.37:g.26620761T>C	ENSP00000363339:p.Glu165Gly	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	77	36	0.467532	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	T	20.1	3.936518	0.73442	0.048426	3.57E-4	ENSG00000158062	ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000535108;ENST00000436301;ENST00000374215;ENST00000452980;ENST00000442942;ENST00000450041;ENST00000423664	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.47	4.47	0.54385	.	0.322809	0.32655	N	0.005820	T	0.11965	0.0291	M	0.61703	1.905	0.18873	N	0.999983	P;P;P;P;P	0.44139	0.734;0.799;0.827;0.827;0.799	B;B;P;P;B	0.46758	0.398;0.272;0.526;0.526;0.214	T	0.22277	-1.0221	10	0.72032	D	0.01	-25.9901	10.3196	0.43758	0.0:0.0:0.0:1.0	rs6695966;rs52794001;rs6695966	7;90;132;127;165	B7Z1T8;B7Z3N8;Q5T124-2;Q5T124-4;Q5T124	.;.;.;.;UBX11_HUMAN	G	132;165;165;132;132;7;90;127;132;132;90;127	ENSP00000349601:E132G;ENSP00000363338:E165G;ENSP00000363339:E165G;ENSP00000363334:E132G;ENSP00000446034:E7G;ENSP00000393858:E90G;ENSP00000363332:E127G;ENSP00000410357:E132G;ENSP00000404956:E132G;ENSP00000413448:E90G;ENSP00000394036:E127G	ENSP00000349601:E132G	E	-	2	0	UBXN11	26493348	0.829000	0.29322	0.059000	0.19551	0.483000	0.33249	2.735000	0.47377	2.013000	0.59113	0.459000	0.35465	GAG	T|0.974;C|0.026	0.026	strong		0.607	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		C	26620761	T	C	26620761	3	2	22	1	0	0	0	0	1	0	0	0	16910	1551	54	3	1100	3	UBXN11	1	26620761	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8301	26620761	222629860	243	5351										
ZNF683	257101	hgsc.bcm.edu	37	chr1	26691174	26691174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagatgccatgccaccaCgctccaggcctggggagtcg	14	14	0	1	rs11247933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26691174C>A	ENST00000436292.1	-	4	983	c.863G>T	c.(862-864)cGt>cTt	p.R288L	ZNF683_ENST00000349618.3_Missense_Mutation_p.R288L|ZNF683_ENST00000374204.1_Missense_Mutation_p.R288L|ZNF683_ENST00000403843.1_Missense_Mutation_p.R288L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	288			R -> L (in dbSNP:rs11247933).		natural killer cell differentiation (GO:0001779)|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(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CATGCCACCACGCTCCAGGCC	0.617													C|||	1319	0.263379	0.1233	0.4193	5008	,	,		16688	0.2778		0.341	False		,,,				2504	0.2474				p.R288L		Atlas-SNP	.											.	ZNF683	51	.	0			c.G863T						PASS	.	C	LEU/ARG,LEU/ARG	720,3686	295.9+/-283.9	58,604,1541	75	77	76		863,863	-7	0	1	dbSNP_120	76	3089,5511	470.5+/-367.8	547,1995,1758	yes	missense,missense	ZNF683	NM_001114759.1,NM_173574.2	102,102	605,2599,3299	AA,AC,CC		35.9186,16.3414,29.2865	benign,benign	288/505,288/505	26691174	3809,9197	2203	4300	6503	SO:0001583	missense	257101	exon4			CCACCACGCTCCA	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.863G>T	1.37:g.26691174C>A	ENSP00000388792:p.Arg288Leu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_173574	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37		620	0.2838827838827839	64	0.13008130081300814	144	0.39779005524861877	147	0.256993006993007	265	0.3496042216358839	C	7.602	0.672902	0.14776	0.163414	0.359186	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.09630	3.01;3.01;2.96;2.96	3.52	-7.04	0.01578	.	2.010380	0.02183	N	0.060622	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.12630	0.006;0.003	B;B	0.17098	0.017;0.008	T	0.44467	-0.9326	9	0.10377	T	0.69	3.2031	3.8651	0.09013	0.1064:0.2623:0.1055:0.5259	rs11247933;rs52829071;rs59372706;rs11247933	288;288	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	L	288	ENSP00000384782:R288L;ENSP00000388792:R288L;ENSP00000363320:R288L;ENSP00000344095:R288L	ENSP00000344095:R288L	R	-	2	0	ZNF683	26563761	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.192000	0.01245	-2.439000	0.00551	-1.134000	0.01955	CGT	C|0.728;A|0.272	0.272	strong		0.617	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		A	26691174	C	A	26691174	3	1	22	1	0	0	0	0	1	0	0	0	18087	536	19	4	663	4	ZNF683	1	26691174	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70413	26691174	222559447	244	5352										
DHDDS	79947	hgsc.bcm.edu	37	chr1	26786627	26786627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttccagatgaaccatagcGtgcttcaggtaagaaagagt	11	7	1	4	rs3816539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26786627G>A	ENST00000236342.7	+	8	850	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	DHDDS_ENST00000526219.1_Missense_Mutation_p.V214M|DHDDS_ENST00000525682.2_Missense_Mutation_p.V219M|RP3-476K8.3_ENST00000423060.1_RNA|DHDDS_ENST00000360009.2_Missense_Mutation_p.V253M			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	253			V -> M (in dbSNP:rs3816539). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20736409}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.V253M(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAACCATAGCGTGCTTCAGGT	0.493													G|||	2280	0.455272	0.4811	0.3069	5008	,	,		21309	0.7093		0.2346	False		,,,				2504	0.4908				p.V253M		Atlas-SNP	.											DHDDS,NS,carcinoma,0,2	DHDDS	33	2	1	Substitution - Missense(1)	stomach(1)	c.G757A						scavenged	.	G	MET/VAL,MET/VAL	1958,2448	553.9+/-378.9	436,1086,681	105	98	101		757,757	-1.4	0.6	1	dbSNP_107	101	1781,6819	323.4+/-316.0	183,1415,2702	yes	missense,missense	DHDDS	NM_024887.3,NM_205861.2	21,21	619,2501,3383	AA,AG,GG		20.7093,44.4394,28.7483	benign,benign	253/335,253/334	26786627	3739,9267	2203	4300	6503	SO:0001583	missense	79947	exon8			CATAGCGTGCTTC	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.757G>A	1.37:g.26786627G>A	ENSP00000236342:p.Val253Met	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	138	59	0.427536	NM_024887	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	CCDS282.1	916|916	0.4194139194139194|0.4194139194139194	212|212	0.43089430894308944|0.43089430894308944	102|102	0.281767955801105|0.281767955801105	421|421	0.736013986013986|0.736013986013986	181|181	0.23878627968337732|0.23878627968337732	G|G	11.04|11.04	1.520802|1.520802	0.27211|0.27211	0.444394|0.444394	0.207093|0.207093	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000430232	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;0.94	5.27|5.27	-1.42|-1.42	0.08913|0.08913	.|.	.|0.633953	.|0.18368	.|N	.|0.143355	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B	.|0.09022	.|0.001;0.002;0.001;0.002	.|B;B;B;B	.|0.11329	.|0.006;0.001;0.006;0.005	T|T	0.37526|0.37526	-0.9702|-0.9702	4|9	.|0.54805	.|T	.|0.06	-12.7868|-12.7868	12.0925|12.0925	0.53736|0.53736	0.3764:0.0:0.6236:0.0|0.3764:0.0:0.6236:0.0	rs3816539;rs17849789;rs52803466;rs58359749;rs3816539|rs3816539;rs17849789;rs52803466;rs58359749;rs3816539	.|219;214;253;253	.|B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.|.;.;DHDDS_HUMAN;.	H|M	129|149;219;253;214;253;214	.|ENSP00000434984:V219M;ENSP00000236342:V253M;ENSP00000434219:V214M;ENSP00000353104:V253M;ENSP00000397584:V214M	.|ENSP00000236342:V253M	R|V	+|+	2|1	0|0	DHDDS|DHDDS	26659214|26659214	0.941000|0.941000	0.31946|0.31946	0.585000|0.585000	0.28666|0.28666	0.801000|0.801000	0.45260|0.45260	0.741000|0.741000	0.26202|0.26202	-0.176000|-0.176000	0.10707|0.10707	0.561000|0.561000	0.74099|0.74099	CGT|GTG	G|0.637;A|0.363	0.363	strong		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		A	26786627	G	A	26786627	3	1	22	1	0	0	0	0	1	0	0	0	4478	1145	40	1	783	1	DHDDS	1	26786627	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95453	26786627	222463994	245	5353										
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26887592	26887592	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgagattcttctgcggtaTggccagcaccccaacatcat	8	12	3	1	rs1064196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:26887592T>C	ENST00000374168.2	+	16	1552	c.1398T>C	c.(1396-1398)taT>taC	p.Y466Y	RPS6KA1_ENST00000374166.4_Silent_p.Y455Y|RPS6KA1_ENST00000531382.1_Silent_p.Y475Y|RPS6KA1_ENST00000374162.2_Silent_p.Y374Y|RPS6KA1_ENST00000530003.1_Silent_p.Y450Y|RPS6KA1_ENST00000526792.1_Silent_p.Y374Y	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	466	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TTCTGCGGTATGGCCAGCACC	0.517													C|||	2556	0.510383	0.5068	0.3646	5008	,	,		20757	0.756		0.2903	False		,,,				2504	0.592				p.Y475Y		Atlas-SNP	.											.	RPS6KA1	65	.	0			c.T1425C						PASS	.	C	,	2037,2369	610.8+/-391.6	467,1103,633	76	77	77		1425,1398	-6.2	0.7	1	dbSNP_86	77	2263,6337	707.5+/-405.6	299,1665,2336	no	coding-synonymous,coding-synonymous	RPS6KA1	NM_001006665.1,NM_002953.3	,	766,2768,2969	CC,CT,TT		26.314,46.2324,33.0617	,	475/745,466/736	26887592	4300,8706	2203	4300	6503	SO:0001819	synonymous_variant	6195	exon15			GCGGTATGGCCAG	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1398T>C	1.37:g.26887592T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_001006665	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.604;C|0.396	0.396	strong		0.517	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		C	26887592	T	C	26887592	2	2	22	1	0	0	0	0	0	0	0	1	13650	1471	51	2		2	RPS6KA1	1	26887592	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	100965	26887592	222363029	246	5354										
ARID1A	8289	hgsc.bcm.edu	37	chr1	27097616	27097618	+	In_Frame_Del	DEL	AAG	AAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttggttatacaggtcaacAagaacaaaaaatggcgggaa							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:27097616_27097618delAAG	ENST00000324856.7	+	12	3576_3578	c.3205_3207delAAG	c.(3205-3207)aagdel	p.K1069del	ARID1A_ENST00000457599.2_In_Frame_Del_p.K1069del|ARID1A_ENST00000374152.2_In_Frame_Del_p.K686del|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1069	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAGGTCAACAAGAACAAAAAAT	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.1068_1069del		Pindel,Atlas-Indel	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.3204_3206del						PASS	.																																			SO:0001651	inframe_deletion	8289	exon12			.	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.3205_3207delAAG	1.37:g.27097616_27097618delAAG	ENSP00000320485:p.Lys1069del	Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	79	16	0.203	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.	.	none		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27097618	AAG	-	27097616	7	5	22	1	0	1	0	1	0	0	0	0	913	131	5	0	3251	0	ARID1A	1	27097616	In_Frame_Del	DEL	AAG	TCGA-G8-6324-01A-11D-2210-10	210024	27097616	222153005	247	5355										
GPN2	54707	hgsc.bcm.edu	37	chr1	27210721	27210721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcgctgctcttgggctcTgaaacagtatccattggctt	10	11	2	1	rs3170660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:27210721T>C	ENST00000374135.4	-	4	990	c.790A>G	c.(790-792)Aga>Gga	p.R264G	GPN2_ENST00000374133.3_Missense_Mutation_p.R85G|GPN2_ENST00000461282.1_5'Flank	NM_018066.3	NP_060536.3			GPN-loop GTPase 2											endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCTTGGGCTCTGAAACAGTAT	0.532													C|||	4373	0.873203	0.9781	0.8256	5008	,	,		18986	0.997		0.6292	False		,,,				2504	0.8885				p.R264G		Atlas-SNP	.											.	GPN2	18	.	0			c.A790G						PASS	.	C	GLY/ARG	4040,366	185.7+/-212.7	1860,320,23	87	76	80		790	5.5	0.7	1	dbSNP_105	80	5388,3212	484.5+/-371.4	1683,2022,595	yes	missense	GPN2	NM_018066.3	125	3543,2342,618	CC,CT,TT		37.3488,8.3069,27.5104	benign	264/311	27210721	9428,3578	2203	4300	6503	SO:0001583	missense	54707	exon4			GGGCTCTGAAACA	AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"GPN-loop GTPases"	25513	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member B"	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.790A>G	1.37:g.27210721T>C	ENSP00000363250:p.Arg264Gly	Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_018066		Missense_Mutation	SNP	ENST00000374135.4	37	CCDS289.1	1826	0.8360805860805861	481	0.9776422764227642	294	0.8121546961325967	572	1.0	479	0.6319261213720316	C	9.172	1.021476	0.19433	0.916931	0.626512	ENSG00000142751	ENST00000374135;ENST00000374133	T;T	0.19105	2.37;2.17	5.48	5.48	0.80851	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.37519	P	0.08252999999999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	9	0.02654	T	1	-10.032	14.1824	0.65583	0.0:0.9271:0.0:0.0729	rs3170660;rs17370367;rs17845131;rs17857934;rs17857983;rs52817375;rs56754148;rs3170660	264	Q9H9Y4	GPN2_HUMAN	G	264;85	ENSP00000363250:R264G;ENSP00000363248:R85G	ENSP00000363248:R85G	R	-	1	2	GPN2	27083308	1.000000	0.71417	0.712000	0.30502	0.826000	0.46750	5.788000	0.69020	1.329000	0.45376	-0.320000	0.08662	AGA	T|0.213;C|0.787	0.787	strong		0.532	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2	NM_018066		C	27210721	T	C	27210721	3	2	22	1	0	0	0	0	1	0	0	0	6618	1588	55	3	150	3	GPN2	1	27210721	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	113105	27210721	222039900	248	5356										
MAP3K6	9064	hgsc.bcm.edu	37	chr1	27688633	27688633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagccagcaccacctggGtggggtcattggcgaggatc	15	12	1	0	rs1138294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:27688633G>A	ENST00000493901.1	-	10	1603	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	MAP3K6_ENST00000374040.3_Missense_Mutation_p.T447I|MAP3K6_ENST00000357582.2_Missense_Mutation_p.T455I	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	455			T -> I (in dbSNP:rs1138294). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17210579}.		activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCACCTGGGTGGGGTCATT	0.602													G|||	1555	0.310503	0.0983	0.2147	5008	,	,		20741	0.5397		0.3777	False		,,,				2504	0.3599				p.T455I		Atlas-SNP	.											.	MAP3K6	134	.	0			c.C1364T						PASS	.	G	ILE/THR	649,3757	269.2+/-268.9	44,561,1598	44	40	42		1364	-1.1	0.4	1	dbSNP_86	42	3016,5584	454.1+/-363.4	543,1930,1827	yes	missense	MAP3K6	NM_004672.3	89	587,2491,3425	AA,AG,GG		35.0698,14.7299,28.1793	benign	455/1289	27688633	3665,9341	2203	4300	6503	SO:0001583	missense	9064	exon9			ACCTGGGTGGGGT	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1364C>T	1.37:g.27688633G>A	ENSP00000419591:p.Thr455Ile	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	303	146	0.481848	NM_004672	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	714|714	0.3269230769230769|0.3269230769230769	57|57	0.11585365853658537|0.11585365853658537	83|83	0.2292817679558011|0.2292817679558011	282|282	0.493006993006993|0.493006993006993	292|292	0.38522427440633245|0.38522427440633245	G|G	9.768|9.768	1.171945|1.171945	0.21704|0.21704	0.147299|0.147299	0.350698|0.350698	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|T;T;T	.|0.09630	.|2.96;2.96;2.96	4.93|4.93	-1.12|-1.12	0.09808|0.09808	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.45293|0.45293	-0.9271|-0.9271	4|8	.|0.39692	.|T	.|0.17	.|.	0.6264|0.6264	0.00786|0.00786	0.3861:0.1243:0.2381:0.2516|0.3861:0.1243:0.2381:0.2516	rs1138294;rs3202045;rs3813799;rs52827923;rs60875383;rs1138294|rs1138294;rs3202045;rs3813799;rs52827923;rs60875383;rs1138294	.|447;455	.|O95382-3;O95382	.|.;M3K6_HUMAN	S|I	179|447;455;178;455	.|ENSP00000363152:T447I;ENSP00000419591:T455I;ENSP00000350195:T455I	.|ENSP00000350195:T455I	P|T	-|-	1|2	0|0	MAP3K6|MAP3K6	27561220|27561220	0.000000|0.000000	0.05858|0.05858	0.395000|0.395000	0.26283|0.26283	0.995000|0.995000	0.86356|0.86356	-1.184000|-1.184000	0.03076|0.03076	-0.091000|-0.091000	0.12440|0.12440	0.650000|0.650000	0.86243|0.86243	CCC|ACC	G|0.712;A|0.288	0.288	strong		0.602	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		A	27688633	G	A	27688633	3	1	22	1	0	0	0	0	1	0	0	0	9254	1261	44	2	2586	2	MAP3K6	1	27688633	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	477912	27688633	221561988	249	5357										
CD164L2	388611	hgsc.bcm.edu	37	chr1	27709020	27709020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccggcactgctcccacaTgcagctggagagattgcgcg	14	13	0	1	rs2504779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:27709020T>C	ENST00000374030.1	-	2	366	c.226A>G	c.(226-228)Atg>Gtg	p.M76V	CD164L2_ENST00000374025.3_Missense_Mutation_p.M76V|CD164L2_ENST00000374027.3_Missense_Mutation_p.M76V			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	76			M -> V (in dbSNP:rs2504779).			integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTCCCACATGCAGCTGGAG	0.657													C|||	1686	0.336661	0.6082	0.0764	5008	,	,		13151	0.3998		0.1362	False		,,,				2504	0.2955				p.M76V		Atlas-SNP	.											.	CD164L2	13	.	0			c.A226G						PASS	.	C	VAL/MET	2321,2085	569.4+/-382.6	620,1081,502	43	45	45		226	3.6	0.8	1	dbSNP_100	45	838,7762	780.3+/-407.7	32,774,3494	yes	missense	CD164L2	NM_207397.2	21	652,1855,3996	CC,CT,TT		9.7442,47.3218,24.2888	benign	76/174	27709020	3159,9847	2203	4300	6503	SO:0001583	missense	388611	exon2			CCCACATGCAGCT	AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.226A>G	1.37:g.27709020T>C	ENSP00000363142:p.Met76Val	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	91	50	0.549451	NM_207397	B2RPJ0|Q5JXD6	Missense_Mutation	SNP	ENST00000374030.1	37		618	0.28296703296703296	288	0.5853658536585366	30	0.08287292817679558	199	0.3479020979020979	101	0.13324538258575197	C	0.006	-2.098954	0.00360	0.526782	0.097442	ENSG00000174950	ENST00000374030;ENST00000374027;ENST00000374025	T;T;T	0.35421	1.31;1.31;1.31	4.5	3.58	0.41010	.	0.000000	0.43919	N	0.000517	T	0.00012	0.0000	N	0.00119	-2.075	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.02654	T	1	-13.4328	6.4453	0.21873	0.0:0.7181:0.1819:0.1	rs2504779;rs59160788;rs2504779	76	Q6UWJ8	C16L2_HUMAN	V	76	ENSP00000363142:M76V;ENSP00000363139:M76V;ENSP00000363137:M76V	ENSP00000363137:M76V	M	-	1	0	CD164L2	27581607	0.854000	0.29725	0.772000	0.31596	0.039000	0.13416	0.367000	0.20382	0.524000	0.28502	-0.227000	0.12334	ATG	T|0.731;C|0.269	0.269	strong		0.657	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009518.1	NM_207397		C	27709020	T	C	27709020	3	2	22	1	0	0	0	0	1	0	0	0	2970	1464	51	2	311	2	CD164L2	1	27709020	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20387	27709020	221541601	250	5358										
SMPDL3B	27293	hgsc.bcm.edu	37	chr1	28282292	28282292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaaaatacctgaaggtggTccggaagcatcatcgcgtca	11	9	2	2	rs3813803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:28282292T>C	ENST00000373894.3	+	6	979	c.788T>C	c.(787-789)gTc>gCc	p.V263A	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V263A|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V215A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	263					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CTGAAGGTGGTCCGGAAGCAT	0.542													T|||	933	0.186302	0.0703	0.255	5008	,	,		19887	0.2123		0.2684	False		,,,				2504	0.183				p.V263A		Atlas-SNP	.											.	SMPDL3B	54	.	0			c.T788C						PASS	.	T	ALA/VAL,ALA/VAL	464,3942	219.1+/-236.9	31,402,1770	105	92	97		788,788	5.3	0.8	1	dbSNP_107	97	2549,6051	416.1+/-352.0	389,1771,2140	yes	missense,missense	SMPDL3B	NM_001009568.1,NM_014474.2	64,64	420,2173,3910	CC,CT,TT		29.6395,10.5311,23.1662	possibly-damaging,possibly-damaging	263/374,263/456	28282292	3013,9993	2203	4300	6503	SO:0001583	missense	27293	exon6			AGGTGGTCCGGAA	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.788T>C	1.37:g.28282292T>C	ENSP00000363001:p.Val263Ala	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	131	73	0.557252	NM_001009568	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	475	0.2174908424908425	37	0.07520325203252033	91	0.2513812154696133	138	0.24125874125874125	209	0.2757255936675462	T	17.52	3.409377	0.62399	0.105311	0.296395	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.92752	-3.1;-3.1;-3.1	5.34	5.34	0.76211	Metallophosphoesterase domain (1);	0.184020	0.47455	D	0.000238	T	0.00039	0.0001	M	0.68952	2.095	0.32187	P	0.5795939999999999	D;D;D	0.63046	0.99;0.992;0.971	P;P;P	0.57152	0.716;0.814;0.716	T	0.00000	-1.5165	9	0.54805	T	0.06	-26.7775	15.2914	0.73868	0.0:0.0:0.0:1.0	rs3813803;rs52818124;rs56731368;rs3813803	215;263;263	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	A	263;263;215;215	ENSP00000363001:V263A;ENSP00000362995:V263A;ENSP00000449450:V215A	ENSP00000362995:V263A	V	+	2	0	SMPDL3B	28154879	1.000000	0.71417	0.796000	0.32109	0.013000	0.08279	7.608000	0.82898	2.009000	0.58944	0.379000	0.24179	GTC	T|0.782;C|0.218	0.218	strong		0.542	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		C	28282292	T	C	28282292	3	2	22	1	0	0	0	0	1	0	0	0	14809	1667	58	2	810	2	SMPDL3B	1	28282292	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	573272	28282292	220968329	251	5359										
SMPDL3B	27293	hgsc.bcm.edu	37	chr1	28285123	28285123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgcacacagtgctggaccGcatcgctggcgaccagagca	12	14	0	1	rs34560878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:28285123G>A	ENST00000373894.3	+	8	1333	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	XKR8_ENST00000373884.5_5'Flank|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R333H	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	381			R -> H (in dbSNP:rs34560878).		sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTGCTGGACCGCATCGCTGGC	0.642													G|||	73	0.0145767	0.0507	0.0086	5008	,	,		19689	0.0		0.0	False		,,,				2504	0.0				p.R381H		Atlas-SNP	.											.	SMPDL3B	54	.	0			c.G1142A						PASS	.	G	HIS/ARG	188,4218	120.0+/-157.7	4,180,2019	69	64	65		1142	-1.2	0	1	dbSNP_126	65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SMPDL3B	NM_014474.2	29	4,181,6318	AA,AG,GG		0.0116,4.2669,1.4532	benign	381/456	28285123	189,12817	2203	4300	6503	SO:0001583	missense	27293	exon8			TGGACCGCATCGC	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1142G>A	1.37:g.28285123G>A	ENSP00000363001:p.Arg381His	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	173	86	0.49711	NM_014474	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	19	0.0086996336996337	15	0.03048780487804878	4	0.011049723756906077	0	0.0	0	0.0	G	11.15	1.553282	0.27739	0.042669	1.16E-4	ENSG00000130768	ENST00000373894;ENST00000549094	D;D	0.90732	-2.72;-2.72	5.09	-1.23	0.09465	.	0.392324	0.27043	N	0.021217	T	0.65491	0.2696	M	0.73962	2.25	0.20074	N	0.999932	B;B	0.20887	0.049;0.029	B;B	0.17098	0.017;0.007	T	0.71331	-0.4625	10	0.52906	T	0.07	-4.737	5.5703	0.17192	0.488:0.0:0.3824:0.1296	rs34560878	333;381	F8VWW8;Q92485	.;ASM3B_HUMAN	H	381;333	ENSP00000363001:R381H;ENSP00000449450:R333H	ENSP00000363001:R381H	R	+	2	0	SMPDL3B	28157710	0.916000	0.31088	0.009000	0.14445	0.001000	0.01503	0.985000	0.29578	-0.071000	0.12886	-1.288000	0.01363	CGC	G|0.986;A|0.014	0.014	strong		0.642	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		A	28285123	G	A	28285123	3	1	22	1	0	0	0	0	1	0	0	0	14809	1087	38	1	1289	1	SMPDL3B	1	28285123	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2831	28285123	220965498	252	5360										
PTAFR	5724	hgsc.bcm.edu	37	chr1	28476520	28476520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggactaatttttgagggaaTtgccagggatctggttgaat	14	4	1	2	rs5939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:28476520T>C	ENST00000373857.3	-	2	1647	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S	PTAFR_ENST00000305392.3_Missense_Mutation_p.N338S|PTAFR_ENST00000539896.1_Missense_Mutation_p.N338S	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	338			N -> S (in dbSNP:rs5939). {ECO:0000269|PubMed:10391209}.		chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGAGGGAATTGCCAGGGAT	0.527													T|||	120	0.0239617	0.0862	0.0086	5008	,	,		21965	0.0		0.0	False		,,,				2504	0.0				p.N338S		Atlas-SNP	.											.	PTAFR	30	.	0			c.A1013G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN	324,4082	173.4+/-203.2	12,300,1891	100	107	105		1013,1013,1013,1013	-1.5	0	1	dbSNP_52	105	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense	PTAFR	NM_000952.4,NM_001164721.1,NM_001164722.2,NM_001164723.2	46,46,46,46	12,307,6184	CC,CT,TT		0.0814,7.3536,2.545	benign,benign,benign,benign	338/343,338/343,338/343,338/343	28476520	331,12675	2203	4300	6503	SO:0001583	missense	5724	exon3			AGGGAATTGCCAG	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.1013A>G	1.37:g.28476520T>C	ENSP00000362965:p.Asn338Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	151	68	0.450331	NM_001164723	A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	CCDS318.1	30	0.013736263736263736	26	0.052845528455284556	4	0.011049723756906077	0	0.0	0	0.0	T	3.748	-0.052169	0.07362	0.073536	8.14E-4	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.70399	-0.48;-0.48;-0.48	5.38	-1.47	0.08772	.	1.433670	0.04726	N	0.420206	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04495	-1.0947	10	0.07813	T	0.8	.	1.6592	0.02787	0.1391:0.3175:0.1355:0.408	rs5939;rs5939	338	P25105	PTAFR_HUMAN	S	338	ENSP00000362965:N338S;ENSP00000442658:N338S;ENSP00000301974:N338S	ENSP00000301974:N338S	N	-	2	0	PTAFR	28349107	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.242000	0.08928	-0.555000	0.06142	-0.418000	0.06021	AAT	T|0.975;C|0.025	0.025	strong		0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		C	28476520	T	C	28476520	3	2	22	1	0	0	0	0	1	0	0	0	12723	1493	52	2	19	2	PTAFR	1	28476520	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	191397	28476520	220774101	253	5361										
OPRD1	4985	hgsc.bcm.edu	37	chr1	29189597	29189597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctgtgcatcgcgctgggCtacgccaatagcagcctcaa	10	15	1	0	rs2234918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:29189597C>T	ENST00000234961.2	+	3	1163	c.921C>T	c.(919-921)ggC>ggT	p.G307G		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	307					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCGCGCTGGGCTACGCCAATA	0.667													C|||	2911	0.58127	0.3056	0.7032	5008	,	,		15581	0.754		0.5726	False		,,,				2504	0.6984				p.G307G		Atlas-SNP	.											OPRD1,rectum,carcinoma,0,1	OPRD1	36	1	0			c.C921T						scavenged	.	C		1507,2897		274,959,969	29	26	27	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	921	3.2	1	1	dbSNP_98	27	4618,3982		1248,2122,930	no	coding-synonymous	OPRD1	NM_000911.3		1522,3081,1899	TT,TC,CC		46.3023,34.2189,47.1009		307/373	29189597	6125,6879	2202	4300	6502	SO:0001819	synonymous_variant	4985	exon3			GCTGGGCTACGCC	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.921C>T	1.37:g.29189597C>T		Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	74	33	0.445946	NM_000911	B5B0B8	Silent	SNP	ENST00000234961.2	37	CCDS329.1																																																																																			C|0.504;T|0.496	0.496	strong		0.667	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29189597	C	T	29189597	2	4	22	1	0	0	0	0	0	0	0	1	10884	784	28	2		2	OPRD1	1	29189597	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	713077	29189597	220061024	254	5362										
EPB41	2035	hgsc.bcm.edu	37	chr1	29391505	29391505	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactgtaggatttagacaaGagtcaagaggagatcaaaaa	10	5	2	4	rs79677225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:29391505G>A	ENST00000343067.4	+	16	2146	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	EPB41_ENST00000373797.1_Silent_p.K659K|EPB41_ENST00000373798.1_Silent_p.K673K|EPB41_ENST00000349460.4_Silent_p.K450K|EPB41_ENST00000398863.2_Silent_p.K619K|EPB41_ENST00000356093.2_Silent_p.K640K|EPB41_ENST00000347529.3_Silent_p.K584K|EPB41_ENST00000373800.3_Silent_p.K431K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	673	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTTAGACAAGAGTCAAGAGG	0.433													G|||	46	0.0091853	0.0325	0.0043	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.0				p.K673K		Atlas-SNP	.											.	EPB41	118	.	0			c.G2019A						PASS	.	G	,,,,,	99,4307	79.3+/-117.8	2,95,2106	98	92	94		2019,1977,1230,1293,1350,1752	-0.5	1	1	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EPB41	NM_001166005.1,NM_001166006.1,NM_001166007.1,NM_004437.3,NM_203342.2,NM_203343.2	,,,,,	2,95,6406	AA,AG,GG		0.0,2.2469,0.7612	,,,,,	673/865,659/721,410/602,431/589,450/642,584/776	29391505	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	2035	exon16			AGACAAGAGTCAA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2019G>A	1.37:g.29391505G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_001166005	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	CCDS53288.1																																																																																			G|0.991;A|0.009	0.009	strong		0.433	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		A	29391505	G	A	29391505	2	1	22	1	0	0	0	0	0	0	0	1	5151	933	33	2		2	EPB41	1	29391505	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201908	29391505	219859116	255	5363										
TMEM200B	399474	hgsc.bcm.edu	37	chr1	29447765	29447765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaagtaccccgacgcggGgacgggtcccagatttctgg	16	11	1	2	rs115927590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:29447765G>T	ENST00000420504.2	-	2	733	c.576C>A	c.(574-576)tcC>tcA	p.S192S	TMEM200B_ENST00000521452.1_Silent_p.S192S	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	192	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCCGACGCGGGGACGGGTCCC	0.692													G|||	46	0.0091853	0.0325	0.0043	5008	,	,		14044	0.0		0.0	False		,,,				2504	0.0				p.S192S		Atlas-SNP	.											.	TMEM200B	9	.	0			c.C576A						PASS	.	G	,	98,4306		2,94,2106	16	17	17		576,576	1.4	1	1	dbSNP_132	17	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	TMEM200B	NM_001003682.3,NM_001171868.1	,	2,94,6404	TT,TG,GG		0.0,2.2252,0.7538	,	192/308,192/308	29447765	98,12902	2202	4298	6500	SO:0001819	synonymous_variant	399474	exon2			ACGCGGGGACGGG		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.576C>A	1.37:g.29447765G>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_001171868	Q6P2G8|Q6P2Q5	Silent	SNP	ENST00000420504.2	37	CCDS30658.1																																																																																			G|0.990;T|0.010	0.010	strong		0.692	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		T	29447765	G	T	29447765	2	4	22	1	0	0	0	0	0	0	0	1	16121	1219	43	4		4	TMEM200B	1	29447765	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56260	29447765	219802856	256	5364										
SDC3	9672	hgsc.bcm.edu	37	chr1	31349795	31349795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagccatggtagtggagacGgtggtggctctctggctggg	19	7	1	1	rs142879690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:31349795G>A	ENST00000339394.6	-	3	648	c.474C>T	c.(472-474)acC>acT	p.T158T	SDC3_ENST00000336798.7_Silent_p.T100T|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	158	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TAGTGGAGACGGTGGTGGCTC	0.667													G|||	5	0.000998403	0.0038	0.0	5008	,	,		12182	0.0		0.0	False		,,,				2504	0.0				p.T158T		Atlas-SNP	.											.	SDC3	45	.	0			c.C474T						PASS	.	G		21,4385	25.3+/-52.1	0,21,2182	36	38	37		474	-1	0.3	1	dbSNP_134	37	0,8598		0,0,4299	no	coding-synonymous	SDC3	NM_014654.3		0,21,6481	AA,AG,GG		0.0,0.4766,0.1615		158/443	31349795	21,12983	2203	4299	6502	SO:0001819	synonymous_variant	9672	exon3			GGAGACGGTGGTG	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.474C>T	1.37:g.31349795G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	141	70	0.496454	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	CCDS30661.1																																																																																			G|0.998;A|0.002	0.002	strong		0.667	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		A	31349795	G	A	31349795	2	1	22	1	0	0	0	0	0	0	0	1	13953	1103	39	1		1	SDC3	1	31349795	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1902030	31349795	217900826	257	5365										
BAI2	576	hgsc.bcm.edu	37	chr1	32196647	32196647	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcgccggggggtcccctcCggccgggccctgggggcatc	18	17	0	0	rs909001|rs35020949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:32196647C>G	ENST00000373658.3	-	29	4475	c.4134G>C	c.(4132-4134)ccG>ccC	p.P1378P	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.P1345P|BAI2_ENST00000398542.1_Silent_p.P1278P|BAI2_ENST00000398538.1_Silent_p.P1366P|BAI2_ENST00000527361.1_Silent_p.P1345P|BAI2_ENST00000373655.2_Silent_p.P1378P|BAI2_ENST00000440175.2_Silent_p.P987P|BAI2_ENST00000398547.1_Silent_p.P1311P|BAI2_ENST00000398556.3_Silent_p.P1293P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1378					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGTCCCCTCCGGCCGGGCCC	0.711													G|||	1930	0.385383	0.7579	0.2594	5008	,	,		12912	0.2331		0.159	False		,,,				2504	0.3609				p.P1378P		Atlas-SNP	.											.	BAI2	128	.	0			c.G4134C						PASS	.	G		2507,1833		741,1025,404	8	11	10		4134	-10.9	0	1	dbSNP_86	10	1364,7136		119,1126,3005	no	coding-synonymous	BAI2	NM_001703.2		860,2151,3409	GG,GC,CC		16.0471,42.235,30.148		1378/1586	32196647	3871,8969	2170	4250	6420	SO:0001819	synonymous_variant	576	exon29			CCCCTCCGGCCGG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4134G>C	1.37:g.32196647C>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	57	30	0.526316	NM_001703	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	CCDS346.2																																																																																			C|0.675;G|0.325	0.325	strong		0.711	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		G	32196647	C	G	32196647	2	3	22	1	0	0	0	0	0	0	0	1	1299	639	23	4		4	BAI2	1	32196647	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	846852	32196647	217053974	258	5366										
DCDC2B	149069	hgsc.bcm.edu	37	chr1	32677370	32677370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgggtttcagggtcctccCgtgactcgccacttgtgtga	12	12	1	2	rs182464428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:32677370C>T	ENST00000409358.1	+	3	327	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	109					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGGGTCCTCCCGTGACTCGCC	0.617													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15943	0.0		0.0	False		,,,				2504	0.0				p.P109P		Atlas-SNP	.											.	DCDC2B	24	.	0			c.C327T						PASS	.	C		18,4196		0,18,2089	36	38	38		327	-6.6	0	1		38	0,8482		0,0,4241	no	coding-synonymous	DCDC2B	NM_001099434.1		0,18,6330	TT,TC,CC		0.0,0.4271,0.1418		109/350	32677370	18,12678	2107	4241	6348	SO:0001819	synonymous_variant	149069	exon3			TCCTCCCGTGACT	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.327C>T	1.37:g.32677370C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_001099434	B7ZBC6	Silent	SNP	ENST00000409358.1	37	CCDS44100.1																																																																																			C|0.998;T|0.002	0.002	strong		0.617	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		T	32677370	C	T	32677370	2	4	22	1	0	0	0	0	0	0	0	1	4286	639	23	1		1	DCDC2B	1	32677370	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	480723	32677370	216573251	259	5367										
TSSK3	81629	hgsc.bcm.edu	37	chr1	32829261	32829261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggaccacaagaacatcAtccaggtgtatgagatgctg	10	11	1	2	rs35508255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:32829261A>G	ENST00000373534.3	+	2	716	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> V (in dbSNP:rs35508255).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAAGAACATCATCCAGGTGTA	0.562													A|||	81	0.0161741	0.0582	0.0058	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0				p.I71V		Atlas-SNP	.											.	TSSK3	22	.	0			c.A211G						PASS	.	A	VAL/ILE	208,4198	128.2+/-165.1	5,198,2000	79	84	82		211	1.9	1	1	dbSNP_126	82	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TSSK3	NM_052841.3	29	5,201,6297	GG,GA,AA		0.0349,4.7208,1.6223	benign	71/269	32829261	211,12795	2203	4300	6503	SO:0001583	missense	81629	exon2			AACATCATCCAGG	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"serine/threonine kinase 22C (spermiogenesis associated)"	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.211A>G	1.37:g.32829261A>G	ENSP00000362634:p.Ile71Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	147	82	0.557823	NM_052841	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	39	0.017857142857142856	36	0.07317073170731707	3	0.008287292817679558	0	0.0	0	0.0	A	9.836	1.189629	0.21954	0.047208	3.49E-4	ENSG00000162526	ENST00000373534	T	0.15372	2.43	5.42	1.88	0.25563	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.086426	0.49916	N	0.000121	T	0.00496	0.0016	N	0.02379	-0.575	0.80722	D	1	P	0.45715	0.865	P	0.45232	0.474	T	0.45512	-0.9256	10	0.13470	T	0.59	.	8.5454	0.33417	0.7713:0.0:0.2287:0.0	rs35508255;rs61742632	71	Q96PN8	TSSK3_HUMAN	V	71	ENSP00000362634:I71V	ENSP00000362634:I71V	I	+	1	0	TSSK3	32601848	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.475000	0.35409	0.456000	0.26937	-0.274000	0.10170	ATC	A|0.981;G|0.019	0.019	strong		0.562	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1			G	32829261	A	G	32829261	3	3	22	1	0	0	0	0	1	0	0	0	16667	217	8	2	217	2	TSSK3	1	32829261	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	151891	32829261	216421360	260	5368										
ZBTB8OS	339487	hgsc.bcm.edu	37	chr1	33099637	33099637	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccattgcacattgctcAaatgcttcctccagagtatc	7	12	1	1	rs704878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:33099637A>G	ENST00000468695.1	-	3	213	c.195T>C	c.(193-195)ttT>ttC	p.F65F	ZBTB8OS_ENST00000373501.2_Silent_p.F53F|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	53					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CACATTGCTCAAATGCTTCCT	0.413													G|||	1070	0.213658	0.4947	0.2464	5008	,	,		16261	0.1319		0.0368	False		,,,				2504	0.0767				p.F65F		Atlas-SNP	.											.	ZBTB8OS	9	.	0			c.T195C						PASS	.	G		1870,2536	631.5+/-395.7	423,1024,756	118	105	110		195	3.1	1	1	dbSNP_86	110	341,8259	804.3+/-407.3	7,327,3966	no	coding-synonymous	ZBTB8OS	NM_178547.2		430,1351,4722	GG,GA,AA		3.9651,42.4421,16.9998		65/180	33099637	2211,10795	2203	4300	6503	SO:0001819	synonymous_variant	339487	exon3			TTGCTCAAATGCT	AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"archease"	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.195T>C	1.37:g.33099637A>G		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	259	119	0.459459	NM_178547	Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Silent	SNP	ENST00000468695.1	37	CCDS365.1	395	0.18086080586080586	219	0.4451219512195122	79	0.21823204419889503	73	0.12762237762237763	24	0.0316622691292876	G	10.31	1.314977	0.23908	0.424421	0.039651	ENSG00000176261	ENST00000436661	.	.	.	5.35	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8943	10.6057	0.45392	0.8512:0.0:0.1488:0.0	rs704878	.	.	.	R	64	.	.	X	-	1	0	ZBTB8OS	32872224	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	1.578000	0.36525	0.115000	0.18071	-1.163000	0.01768	TGA	A|0.831;G|0.169	0.169	strong		0.413	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021669.3	NM_178547		G	33099637	A	G	33099637	2	3	22	1	0	0	0	0	0	0	0	1	17554	127	5	2		2	ZBTB8OS	1	33099637	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	270376	33099637	216150984	261	5369										
RBBP4	5928	hgsc.bcm.edu	37	chr1	33134865	33134865	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaacaatacttccaaaccAagccactcagttgatgctca	4	13	3	1	rs11551266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:33134865A>C	ENST00000373493.5	+	7	954	c.795A>C	c.(793-795)ccA>ccC	p.P265P	RBBP4_ENST00000373485.1_Silent_p.P265P|RBBP4_ENST00000414241.3_Silent_p.P264P|RBBP4_ENST00000544435.1_Silent_p.P13P|RBBP4_ENST00000458695.2_Silent_p.P230P	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	265					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTTCCAAACCAAGCCACTCAG	0.383													A|||	409	0.0816693	0.2927	0.0303	5008	,	,		17140	0.0		0.001	False		,,,				2504	0.0				p.P265P		Atlas-SNP	.											.	RBBP4	38	.	0			c.A795C						PASS	.	A	,,	1061,3345	373.0+/-320.6	139,783,1281	63	62	62		792,690,795	4.1	1	1	dbSNP_120	62	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	RBBP4	NM_001135255.1,NM_001135256.1,NM_005610.2	,,	139,794,5570	CC,CA,AA		0.1279,24.0808,8.2423	,,	264/425,230/391,265/426	33134865	1072,11934	2203	4300	6503	SO:0001819	synonymous_variant	5928	exon7			CAAACCAAGCCAC	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.795A>C	1.37:g.33134865A>C		Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	215	94	0.437209	NM_005610	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	CCDS366.1	158|158	0.07234432234432235|0.07234432234432235	151|151	0.30691056910569103|0.30691056910569103	7|7	0.019337016574585635|0.019337016574585635	0|0	0.0|0.0	0|0	0.0|0.0	A|A	8.870|8.870	0.948970|0.948970	0.18356|0.18356	0.240808|0.240808	0.001279|0.001279	ENSG00000162521|ENSG00000162521	ENST00000475321|ENST00000463378	.|.	.|.	.|.	5.23|5.23	4.08|4.08	0.47627|0.47627	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34153|0.34153	-0.9840|-0.9840	3|3	.|.	.|.	.|.	.|.	6.6964|6.6964	0.23201|0.23201	0.5947:0.2729:0.0:0.1324|0.5947:0.2729:0.0:0.1324	rs11551266;rs17849722;rs56732244|rs11551266;rs17849722;rs56732244	.|.	.|.	.|.	Q|P	68|25	.|.	.|.	K|Q	+|+	1|2	0|0	RBBP4|RBBP4	32907452|32907452	0.838000|0.838000	0.29461|0.29461	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	0.081000|0.081000	0.14823|0.14823	0.910000|0.910000	0.36722|0.36722	0.402000|0.402000	0.26972|0.26972	AAG|CAA	A|0.925;C|0.075	0.075	strong		0.383	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		C	33134865	A	C	33134865	2	2	22	1	0	0	0	0	0	0	0	1	13101	117	5	5		5	RBBP4	1	33134865	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35228	33134865	216115756	262	5370										
ZNF362	149076	hgsc.bcm.edu	37	chr1	33745781	33745781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctgagtcaagcgcgggcGcgggcacgggcacgggtacc	17	13	2	1	rs143005937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:33745781G>A	ENST00000539719.1	+	5	576	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A136T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	136					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)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCGCGGGCGCGGGCACGGG	0.697													G|||	40	0.00798722	0.0272	0.0058	5008	,	,		11977	0.0		0.0	False		,,,				2504	0.0				p.A136T	Pancreas(162;1431 2676 35353 38425)	Atlas-SNP	.											.	ZNF362	31	.	0			c.G406A						PASS	.	G	THR/ALA	138,4266	98.5+/-137.1	6,126,2070	53	59	57		406	1.2	0	1	dbSNP_134	57	0,8596		0,0,4298	yes	missense	ZNF362	NM_152493.2	58	6,126,6368	AA,AG,GG		0.0,3.1335,1.0615	benign	136/421	33745781	138,12862	2202	4298	6500	SO:0001583	missense	149076	exon5			GCGGGCGCGGGCA		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.406G>A	1.37:g.33745781G>A	ENSP00000446335:p.Ala136Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	137	81	0.591241	NM_152493	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	0.389	-0.924363	0.02377	0.031335	0.0	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.07567	3.18;3.18	2.39	1.17	0.20885	.	1.192330	0.06286	N	0.698320	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45687	-0.9244	10	0.12766	T	0.61	.	4.807	0.13325	0.8237:0.0:0.1763:0.0	.	136	Q5T0B9	ZN362_HUMAN	T	123;136;136	ENSP00000446335:A136T;ENSP00000362527:A136T	ENSP00000362527:A136T	A	+	1	0	ZNF362	33518368	0.998000	0.40836	0.007000	0.13788	0.438000	0.31896	0.857000	0.27831	0.111000	0.17947	-0.839000	0.03059	GCG	G|0.989;A|0.011	0.011	strong		0.697	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		A	33745781	G	A	33745781	3	1	22	1	0	0	0	0	1	0	0	0	17865	1087	38	1	420	1	ZNF362	1	33745781	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	610916	33745781	215504840	263	5371										
PHC2	1912	hgsc.bcm.edu	37	chr1	33820520	33820520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgtggggcacgccctcGggatgtccattctgaggccc	17	12	1	1	rs79627057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:33820520G>A	ENST00000257118.5	-	7	1364	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.P408P|PHC2_ENST00000373422.3_Silent_p.P42P|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000419414.2_Silent_p.P437P	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	437					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCACGCCCTCGGGATGTCCAT	0.607													G|||	94	0.01877	0.0651	0.0115	5008	,	,		18903	0.0		0.0	False		,,,				2504	0.0				p.P437P		Atlas-SNP	.											.	PHC2	78	.	0			c.C1311T						PASS	.	G		237,4169	140.4+/-175.9	12,213,1978	72	69	70		1311	-8.6	0.4	1	dbSNP_131	70	0,8600		0,0,4300	no	coding-synonymous	PHC2	NM_198040.2		12,213,6278	AA,AG,GG		0.0,5.379,1.8222		437/859	33820520	237,12769	2203	4300	6503	SO:0001819	synonymous_variant	1912	exon7			GCCCTCGGGATGT	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1311C>T	1.37:g.33820520G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	110	46	0.418182	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																			G|0.981;A|0.019	0.019	strong		0.607	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		A	33820520	G	A	33820520	2	1	22	1	0	0	0	0	0	0	0	1	11817	1103	39	1		1	PHC2	1	33820520	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74739	33820520	215430101	264	5372										
CSMD2	114784	hgsc.bcm.edu	37	chr1	34112303	34112303	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcatcgctgcggaaggcGaggaagaggctgttgctgct	17	8	0	1	rs10798976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:34112303G>A	ENST00000373380.1	-	8	1558	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.L1573L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1533	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCGGAAGGCGAGGAAGAGGC	0.557													G|||	535	0.106829	0.2716	0.0504	5008	,	,		17999	0.1181		0.004	False		,,,				2504	0.0184				p.L1533L		Atlas-SNP	.											.	CSMD2	946	.	0			c.C4599T						PASS	.	G		917,3489	355.6+/-313.1	89,739,1375	87	82	84		4599	-4	1	1	dbSNP_120	84	52,8548	33.3+/-86.6	0,52,4248	no	coding-synonymous	CSMD2	NM_052896.3		89,791,5623	AA,AG,GG		0.6047,20.8125,7.4504		1533/3488	34112303	969,12037	2203	4300	6503	SO:0001819	synonymous_variant	114784	exon29			GAAGGCGAGGAAG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1338C>T	1.37:g.34112303G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	133	52	0.390977	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																				G|0.905;A|0.095	0.095	strong		0.557	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		A	34112303	G	A	34112303	2	1	22	1	0	0	0	0	0	0	0	1	3945	1045	37	1		1	CSMD2	1	34112303	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	291783	34112303	215138318	265	5373										
CSMD2	114784	hgsc.bcm.edu	37	chr1	34174737	34174737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgccctggctttcagctgAattcccttccctggctgggt	10	13	1	1	rs10914765	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:34174737A>G	ENST00000373380.1	-	1	367	c.147T>C	c.(145-147)atT>atC	p.I49I	CSMD2_ENST00000373381.4_Silent_p.I1176I|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1136	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTTCAGCTGAATTCCCTTCC	0.453													A|||	205	0.0409345	0.087	0.0101	5008	,	,		20724	0.0		0.001	False		,,,				2504	0.0838				p.I1136I		Atlas-SNP	.											.	CSMD2	946	.	0			c.T3408C						PASS	.	A		313,4093	170.1+/-200.6	10,293,1900	132	124	127		3408	4.4	1	1	dbSNP_120	127	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CSMD2	NM_052896.3		10,297,6196	GG,GA,AA		0.0465,7.1039,2.4373		1136/3488	34174737	317,12689	2203	4300	6503	SO:0001819	synonymous_variant	114784	exon22			CAGCTGAATTCCC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.147T>C	1.37:g.34174737A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	105	52	0.495238	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																				A|0.972;G|0.028	0.028	strong		0.453	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		G	34174737	A	G	34174737	2	3	22	1	0	0	0	0	0	0	0	1	3945	242	9	2		2	CSMD2	1	34174737	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	62434	34174737	215075884	266	5374										
CSMD2	114784	hgsc.bcm.edu	37	chr1	34238283	34238283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgagtgtgtcaccgtggTgaaaccgggagccttccctc	12	12	1	2	rs474474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:34238283T>C	ENST00000338325.1	-	7	969	c.557A>G	c.(556-558)cAc>cGc	p.H186R	CSMD2_ENST00000373381.4_Missense_Mutation_p.H578R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	538	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCACCGTGGTGAAACCGGGA	0.537													C|||	1901	0.379593	0.5333	0.317	5008	,	,		19833	0.2659		0.2406	False		,,,				2504	0.4765				p.H538R		Atlas-SNP	.											.	CSMD2	946	.	0			c.A1613G						PASS	.	C	ARG/HIS	2143,2263	596.7+/-388.7	525,1093,585	111	105	107		1613	-1.3	0.9	1	dbSNP_83	107	2291,6309	706.5+/-405.5	301,1689,2310	yes	missense	CSMD2	NM_052896.3	29	826,2782,2895	CC,CT,TT		26.6395,48.6382,34.092	benign	538/3488	34238283	4434,8572	2203	4300	6503	SO:0001583	missense	114784	exon13			CCGTGGTGAAACC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.557A>G	1.37:g.34238283T>C	ENSP00000340311:p.His186Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	88	58	0.659091	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37		682	0.31227106227106227	238	0.483739837398374	96	0.26519337016574585	168	0.2937062937062937	180	0.23746701846965698	C	9.737	1.163742	0.21538	0.486382	0.266395	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.62941	-0.01;-0.01	6.06	-1.29	0.09288	Complement control module (2);Sushi/SCR/CCP (3);	0.180087	0.50627	N	0.000119	T	0.00012	0.0000	N	0.01284	-0.91	0.09310	P	0.999999999946275	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41197	-0.9522	9	0.10636	T	0.68	.	6.7188	0.23318	0.1097:0.4467:0.0:0.4436	rs474474;rs56977083;rs474474	538;578	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	578;186	ENSP00000362479:H578R;ENSP00000340311:H186R	ENSP00000241312:H538R	H	-	2	0	CSMD2	34010870	0.032000	0.19561	0.934000	0.37439	0.987000	0.75469	-0.069000	0.11542	-0.514000	0.06488	-0.733000	0.03571	CAC	T|0.662;C|0.338	0.338	strong		0.537	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		C	34238283	T	C	34238283	3	2	22	1	0	0	0	0	1	0	0	0	3945	1696	59	2	9078	2	CSMD2	1	34238283	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	63546	34238283	215012338	267	5375										
C1orf94	84970	hgsc.bcm.edu	37	chr1	34663180	34663180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaggggacagaggacagGggccgcatcctaggtgactc	16	10	0	2	rs3795412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:34663180G>A	ENST00000488417.1	+	2	795	c.675G>A	c.(673-675)agG>agA	p.R225R	C1orf94_ENST00000373374.3_Silent_p.R35R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	225										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGAGGACAGGGGCCGCATCC	0.547													G|||	576	0.115016	0.1346	0.1124	5008	,	,		20597	0.0575		0.164	False		,,,				2504	0.0992				p.R225R		Atlas-SNP	.											.	C1orf94	156	.	0			c.G675A						PASS	.	G	,	694,3712	292.7+/-282.2	47,600,1556	87	76	80		675,105	0.7	0	1	dbSNP_107	80	1680,6920	307.8+/-308.6	170,1340,2790	yes	coding-synonymous,coding-synonymous	C1orf94	NM_001134734.1,NM_032884.3	,	217,1940,4346	AA,AG,GG		19.5349,15.7512,18.2531	,	225/599,35/409	34663180	2374,10632	2203	4300	6503	SO:0001819	synonymous_variant	84970	exon2			GGACAGGGGCCGC	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.675G>A	1.37:g.34663180G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	89	31	0.348315	NM_001134734	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	CCDS44108.1																																																																																			G|0.833;A|0.167	0.167	strong		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		A	34663180	G	A	34663180	2	1	22	1	0	0	0	0	0	0	0	1	2071	1223	43	2		2	C1orf94	1	34663180	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	424897	34663180	214587441	268	5376										
C1orf94	84970	hgsc.bcm.edu	37	chr1	34663411	34663411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctcctgcacgtcctgaCaagctccctgagctccctgc	7	20	0	2	rs1414474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:34663411C>G	ENST00000488417.1	+	2	1026	c.906C>G	c.(904-906)gaC>gaG	p.D302E	C1orf94_ENST00000373374.3_Missense_Mutation_p.D112E	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	302			D -> E (in dbSNP:rs1414474). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACGTCCTGACAAGCTCCCTG	0.607													C|||	836	0.166933	0.1369	0.2233	5008	,	,		19091	0.0863		0.2048	False		,,,				2504	0.2117				p.D302E		Atlas-SNP	.											.	C1orf94	156	.	0			c.C906G						PASS	.	C	GLU/ASP,GLU/ASP	742,3664	306.3+/-289.4	59,624,1520	56	51	53		906,336	1.3	0.7	1	dbSNP_88	53	2029,6571	352.5+/-328.7	240,1549,2511	yes	missense,missense	C1orf94	NM_001134734.1,NM_032884.3	45,45	299,2173,4031	GG,GC,CC		23.593,16.8407,21.3056	benign,benign	302/599,112/409	34663411	2771,10235	2203	4300	6503	SO:0001583	missense	84970	exon2			TCCTGACAAGCTC	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.906C>G	1.37:g.34663411C>G	ENSP00000435634:p.Asp302Glu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	106	45	0.424528	NM_001134734	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	343	0.15705128205128205	75	0.1524390243902439	78	0.2154696132596685	43	0.07517482517482517	147	0.19393139841688653	C	8.449	0.852550	0.17106	0.168407	0.23593	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.26223	1.75;1.75	4.46	1.31	0.21738	.	0.913614	0.09296	N	0.821662	T	0.00012	0.0000	L	0.40543	1.245	0.45777	P	0.0013370000000000326	B	0.13594	0.008	B	0.12156	0.007	T	0.31336	-0.9947	9	0.37606	T	0.19	-13.8187	6.5487	0.22420	0.0:0.5515:0.3483:0.1002	rs1414474;rs17484993;rs17845124;rs17857924;rs1414474	302	Q6P1W5	CA094_HUMAN	E	112;302	ENSP00000362472:D112E;ENSP00000435634:D302E	ENSP00000362472:D112E	D	+	3	2	C1orf94	34435998	0.958000	0.32768	0.721000	0.30653	0.408000	0.30992	-0.116000	0.10724	0.486000	0.27676	0.557000	0.71058	GAC	C|0.796;G|0.204	0.204	strong		0.607	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		G	34663411	C	G	34663411	3	3	22	1	0	0	0	0	1	0	0	0	2071	477	17	4	912	4	C1orf94	1	34663411	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	231	34663411	214587210	269	5377										
GJB4	127534	hgsc.bcm.edu	37	chr1	35227041	35227041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagcccggctgccccaaCgtctgctatgacgagttctt	10	14	2	1	rs76188300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35227041C>T	ENST00000339480.1	+	2	556	c.186C>T	c.(184-186)aaC>aaT	p.N62N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	62					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCTGCCCCAACGTCTGCTATG	0.612													C|||	181	0.0361422	0.1293	0.013	5008	,	,		21540	0.0		0.001	False		,,,				2504	0.0				p.N62N		Atlas-SNP	.											.	GJB4	51	.	0			c.C186T						PASS	.	C		513,3893	236.5+/-248.6	25,463,1715	177	125	143		186	-6	0.8	1	dbSNP_131	143	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	GJB4	NM_153212.2		25,468,6010	TT,TC,CC		0.0581,11.6432,3.9828		62/267	35227041	518,12488	2203	4300	6503	SO:0001819	synonymous_variant	127534	exon2			CCCCAACGTCTGC		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.186C>T	1.37:g.35227041C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	166	77	0.463855	NM_153212	B3KQ82	Silent	SNP	ENST00000339480.1	37	CCDS383.1																																																																																			C|0.964;T|0.036	0.036	strong		0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		T	35227041	C	T	35227041	2	4	22	1	0	0	0	0	0	0	0	1	6410	535	19	1		1	GJB4	1	35227041	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	563630	35227041	214023580	270	5378										
GJB4	127534	hgsc.bcm.edu	37	chr1	35227306	35227306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcctctatatcttccacCgcctctacaaggattatgac	5	14	3	1	rs78499418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35227306C>A	ENST00000339480.1	+	2	821	c.451C>A	c.(451-453)Cgc>Agc	p.R151S	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TATCTTCCACCGCCTCTACAA	0.597													C|||	224	0.0447284	0.0991	0.0807	5008	,	,		20226	0.0317		0.0	False		,,,				2504	0.0051				p.R151S		Atlas-SNP	.											.	GJB4	51	.	0			c.C451A						PASS	.	C	SER/ARG	388,4018	195.7+/-220.2	16,356,1831	61	51	54		451	2.8	1	1	dbSNP_131	54	7,8593	5.0+/-18.6	0,7,4293	yes	missense	GJB4	NM_153212.2	110	16,363,6124	AA,AC,CC		0.0814,8.8062,3.0371	benign	151/267	35227306	395,12611	2203	4300	6503	SO:0001583	missense	127534	exon2			TTCCACCGCCTCT		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.451C>A	1.37:g.35227306C>A	ENSP00000345868:p.Arg151Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	75	41	0.546667	NM_153212	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	CCDS383.1	110	0.05036630036630037	58	0.11788617886178862	31	0.0856353591160221	21	0.03671328671328671	0	0.0	C	14.68	2.606763	0.46527	0.088062	8.14E-4	ENSG00000189433	ENST00000339480	D	0.95272	-3.66	5.73	2.76	0.32466	Gap junction protein, cysteine-rich domain (1);	0.176980	0.50627	D	0.000107	T	0.12050	0.0293	L	0.45352	1.415	0.53688	P	2.5000000000052758E-5	B	0.20780	0.048	B	0.20577	0.03	T	0.61865	-0.6975	9	0.32370	T	0.25	.	2.7568	0.05295	0.1289:0.5283:0.1251:0.2177	.	151	Q9NTQ9	CXB4_HUMAN	S	151	ENSP00000345868:R151S	ENSP00000345868:R151S	R	+	1	0	GJB4	34999893	0.000000	0.05858	0.951000	0.38953	0.977000	0.68977	-0.582000	0.05814	0.319000	0.23209	0.655000	0.94253	CGC	C|0.966;A|0.034	0.034	strong		0.597	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		A	35227306	C	A	35227306	3	1	22	1	0	0	0	0	1	0	0	0	6410	652	23	4	453	4	GJB4	1	35227306	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	265	35227306	214023315	271	5379										
GJB4	127534	hgsc.bcm.edu	37	chr1	35227466	35227466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctgctcaacctcagtgAagtcttctacctggtgggca	9	13	4	1	rs3738346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35227466A>C	ENST00000339480.1	+	2	981	c.611A>C	c.(610-612)gAa>gCa	p.E204A	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	204			E -> A (may be associated with deafness; dbSNP:rs3738346). {ECO:0000269|PubMed:11933201}.		cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AACCTCAGTGAAGTCTTCTAC	0.587													A|||	543	0.108427	0.2481	0.1081	5008	,	,		22129	0.12		0.0099	False		,,,				2504	0.0092				p.E204A		Atlas-SNP	.											.	GJB4	51	.	0			c.A611C						PASS	.	A	ALA/GLU	831,3575	327.7+/-300.2	86,659,1458	73	67	69		611	5.8	1	1	dbSNP_107	69	35,8565	24.0+/-70.4	1,33,4266	yes	missense	GJB4	NM_153212.2	107	87,692,5724	CC,CA,AA		0.407,18.8606,6.6585	probably-damaging	204/267	35227466	866,12140	2203	4300	6503	SO:0001583	missense	127534	exon2			TCAGTGAAGTCTT		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.611A>C	1.37:g.35227466A>C	ENSP00000345868:p.Glu204Ala	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	59	30	0.508475	NM_153212	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	CCDS383.1	221	0.10119047619047619	99	0.20121951219512196	29	0.08011049723756906	84	0.14685314685314685	9	0.011873350923482849	A	27.7	4.858062	0.91433	0.188606	0.00407	ENSG00000189433	ENST00000339480	D	0.98120	-4.73	5.78	5.78	0.91487	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	H	0.94847	3.59	0.20926	P	0.999823228	D	0.89917	1.0	D	0.97110	1.0	T	0.00000	-1.5297	9	0.87932	D	0	.	15.8436	0.78871	1.0:0.0:0.0:0.0	rs3738346;rs3738346	204	Q9NTQ9	CXB4_HUMAN	A	204	ENSP00000345868:E204A	ENSP00000345868:E204A	E	+	2	0	GJB4	35000053	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	6.246000	0.72405	2.222000	0.72286	0.529000	0.55759	GAA	A|0.915;C|0.085	0.085	strong		0.587	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		C	35227466	A	C	35227466	3	2	22	1	0	0	0	0	1	0	0	0	6410	246	9	5	613	5	GJB4	1	35227466	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	160	35227466	214023155	272	5380										
GJA4	2701	hgsc.bcm.edu	37	chr1	35259946	35259946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctggccggcgagtcagtGtggggtgacgagcaatcaga	18	9	2	2	rs1764389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35259946G>A	ENST00000342280.4	+	2	220	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	44					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)		p.V44V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGAGTCAGTGTGGGGTGACG	0.602													G|||	1182	0.236022	0.4796	0.1614	5008	,	,		18859	0.1349		0.2197	False		,,,				2504	0.0808				p.V44V		Atlas-SNP	.											GJA4,NS,carcinoma,0,1	GJA4	25	1	1	Substitution - coding silent(1)	stomach(1)	c.G132A						PASS	.	G		1917,2489	547.9+/-377.4	415,1087,701	163	142	149		132	1.2	1	1	dbSNP_89	149	1733,6867	315.0+/-312.1	173,1387,2740	no	coding-synonymous	GJA4	NM_002060.2		588,2474,3441	AA,AG,GG		20.1512,43.5089,28.064		44/334	35259946	3650,9356	2203	4300	6503	SO:0001819	synonymous_variant	2701	exon2			GTCAGTGTGGGGT	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.132G>A	1.37:g.35259946G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	162	162	1	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	CCDS30669.1																																																																																			G|0.731;A|0.269	0.269	strong		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		A	35259946	G	A	35259946	2	1	22	1	0	0	0	0	0	0	0	1	6403	1364	48	2		2	GJA4	1	35259946	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32480	35259946	213990675	273	5381										
GJA4	2701	hgsc.bcm.edu	37	chr1	35259961	35259961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgtggggtgacgagcaAtcagatttcgagtgtaacac	13	7	2	2	rs1764390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35259961A>G	ENST00000342280.4	+	2	235	c.147A>G	c.(145-147)caA>caG	p.Q49Q		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	49					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGACGAGCAATCAGATTTCG	0.602													G|||	3112	0.621406	0.8533	0.513	5008	,	,		18874	0.4841		0.6481	False		,,,				2504	0.499				p.Q49Q		Atlas-SNP	.											.	GJA4	25	.	0			c.A147G						PASS	.	G		3620,786	318.0+/-295.4	1493,634,76	176	151	160		147	4.6	1	1	dbSNP_89	160	5564,3036	467.5+/-367.1	1788,1988,524	no	coding-synonymous	GJA4	NM_002060.2		3281,2622,600	GG,GA,AA		35.3023,17.8393,29.3864		49/334	35259961	9184,3822	2203	4300	6503	SO:0001819	synonymous_variant	2701	exon2			CGAGCAATCAGAT	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.147A>G	1.37:g.35259961A>G		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	164	163	0.993902	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	CCDS30669.1																																																																																			A|0.319;C|0.000;G|0.681;T|0.000	0.681	strong		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		G	35259961	A	G	35259961	2	3	22	1	0	0	0	0	0	0	0	1	6403	98	4	2		2	GJA4	1	35259961	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15	35259961	213990660	274	5382										
GJA4	2701	hgsc.bcm.edu	37	chr1	35260760	35260760	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacccaccccctcagaatGgccaaaaacccccaagtcgt					rs140949366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35260760G>A	ENST00000342280.4	+	2	1034	c.946G>A	c.(946-948)Ggc>Agc	p.G316S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	316					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCCTCAGAATGGCCAAAAACC	0.577													G|||	40	0.00798722	0.0295	0.0014	5008	,	,		17399	0.0		0.0	False		,,,				2504	0.0				p.G316S		Atlas-SNP	.											.	GJA4	25	.	0			c.G946A						PASS	.	G	SER/GLY	121,4285	88.7+/-127.4	4,113,2086	42	40	41		946	3.4	0	1	dbSNP_134	41	0,8600		0,0,4300	yes	missense	GJA4	NM_002060.2	56	4,113,6386	AA,AG,GG		0.0,2.7463,0.9303	probably-damaging	316/334	35260760	121,12885	2203	4300	6503	SO:0001583	missense	2701	exon2			CAGAATGGCCAAA	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.946G>A	1.37:g.35260760G>A	ENSP00000343676:p.Gly316Ser	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	CCDS30669.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	2.239	-0.374329	0.05034	0.027463	0.0	ENSG00000187513	ENST00000342280	D	0.97186	-4.28	5.25	3.39	0.38822	.	0.791228	0.11561	N	0.551774	D	0.85448	0.5699	L	0.44542	1.39	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.78170	-0.2308	10	0.11794	T	0.64	.	7.8674	0.29545	0.1462:0.1332:0.7206:0.0	.	316	P35212	CXA4_HUMAN	S	316	ENSP00000343676:G316S	ENSP00000343676:G316S	G	+	1	0	GJA4	35033347	0.002000	0.14202	0.009000	0.14445	0.026000	0.11368	0.960000	0.29253	0.603000	0.29913	0.561000	0.74099	GGC	G|0.989;A|0.011	0.011	strong		0.577	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		A	35260760	G	A	35260760	3	1	22	1	0	0	0	0	1	0	0	0	6403	1348	47	2	948	2	GJA4	1	35260760	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	799	35260760	213989861	275	5383	108	2								
GJA4	2701	hgsc.bcm.edu	37	chr1	35260769	35260769	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcagaatggccaaaaaCccccaagtcgtcccagcagc					rs1764391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35260769C>T	ENST00000342280.4	+	2	1043	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	319			P -> S (in allele CX37*2; dbSNP:rs1764391). {ECO:0000269|PubMed:10447790, ECO:0000269|PubMed:10728596, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCCAAAAACCCCCAAGTCG	0.577													T|||	1671	0.333666	0.5847	0.2723	5008	,	,		17834	0.1726		0.332	False		,,,				2504	0.2055				p.P319S		Atlas-SNP	.											.	GJA4	25	.	0			c.C955T	GRCh37	CM994122	GJA4	M	rs1764391	PASS	.	T	SER/PRO	2315,2091	563.5+/-381.2	610,1095,498	43	41	42		955	0	0.9	1	dbSNP_89	42	2603,5997	677.2+/-403.4	395,1813,2092	yes	missense	GJA4	NM_002060.2	74	1005,2908,2590	TT,TC,CC		30.2674,47.458,37.8133	benign	319/334	35260769	4918,8088	2203	4300	6503	SO:0001583	missense	2701	exon2			CAAAAACCCCCAA	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.955C>T	1.37:g.35260769C>T	ENSP00000343676:p.Pro319Ser	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	50	49	0.98	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	CCDS30669.1	730	0.3342490842490842	264	0.5365853658536586	109	0.3011049723756906	106	0.1853146853146853	251	0.3311345646437995	T	0.051	-1.249319	0.01469	0.52542	0.302674	ENSG00000187513	ENST00000342280	D	0.97114	-4.25	5.25	0.0125	0.14092	.	2.066470	0.02474	N	0.087865	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42816	-0.9429	9	0.36615	T	0.2	.	5.8617	0.18752	0.0:0.4496:0.296:0.2544	rs1764391;rs16837028;rs52823203;rs1764391	319	P35212	CXA4_HUMAN	S	319	ENSP00000343676:P319S	ENSP00000343676:P319S	P	+	1	0	GJA4	35033356	0.000000	0.05858	0.865000	0.33974	0.202000	0.24057	0.155000	0.16362	0.237000	0.21200	-0.361000	0.07541	CCC	C|0.634;T|0.366	0.366	strong		0.577	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		T	35260769	C	T	35260769	3	4	22	1	0	0	0	0	1	0	0	0	6403	507	18	2	957	2	GJA4	1	35260769	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	35260769	213989852	276	5384	108	2								
ZMYM6	9204	hgsc.bcm.edu	37	chr1	35454115	35454115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaacacatttctactaaAtatggtttaattaattcttc	3	7	3	1	rs61745582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35454115A>G	ENST00000357182.4	-	16	2795	c.2568T>C	c.(2566-2568)taT>taC	p.Y856Y	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	856					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				tttctactaaatatggtttaa	0.338													A|||	214	0.0427316	0.1513	0.0187	5008	,	,		17989	0.0		0.001	False		,,,				2504	0.0				p.Y856Y		Atlas-SNP	.											.	ZMYM6	110	.	0			c.T2568C						PASS	.	A		249,2077		15,219,929	17	16	16		2568	2.4	1	1	dbSNP_129	16	5,5061		0,5,2528	no	coding-synonymous	ZMYM6	NM_007167.3		15,224,3457	GG,GA,AA		0.0987,10.7051,3.4361		856/1326	35454115	254,7138	1163	2533	3696	SO:0001819	synonymous_variant	9204	exon16			TACTAAATATGGT	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2568T>C	1.37:g.35454115A>G		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	229	112	0.489083	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	CCDS387.2																																																																																			A|0.962;G|0.038	0.038	strong		0.338	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		G	35454115	A	G	35454115	2	3	22	1	0	0	0	0	0	0	0	1	17701	108	4	2		2	ZMYM6	1	35454115	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	193346	35454115	213796506	277	5385										
KIAA0319L	79932	hgsc.bcm.edu	37	chr1	35900615	35900615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccatgtaaagatggcatcAtcgctgtccagctctgactc	10	12	2	2	rs3814302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35900615A>G	ENST00000325722.3	-	21	3264	c.3030T>C	c.(3028-3030)gaT>gaC	p.D1010D	KIAA0319L_ENST00000373266.4_Silent_p.D447D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1010						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATGGCATCATCGCTGTCCA	0.547													G|||	2272	0.453674	0.7239	0.3674	5008	,	,		22270	0.7679		0.0497	False		,,,				2504	0.2413				p.D1010D		Atlas-SNP	.											.	KIAA0319L	156	.	0			c.T3030C						PASS	.	G		2634,1772	524.6+/-371.4	807,1020,376	100	88	92		3030	-9.4	0.3	1	dbSNP_107	92	285,8315	806.6+/-407.2	7,271,4022	no	coding-synonymous	KIAA0319L	NM_024874.4		814,1291,4398	GG,GA,AA		3.314,40.2179,22.4435		1010/1050	35900615	2919,10087	2203	4300	6503	SO:0001819	synonymous_variant	79932	exon21			GGCATCATCGCTG	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3030T>C	1.37:g.35900615A>G		Somatic	229	1	0.00436681		WXS	Illumina HiSeq	Phase_I	240	119	0.495833	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	CCDS390.1																																																																																			A|0.669;G|0.331	0.331	strong		0.547	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		G	35900615	A	G	35900615	2	3	22	1	0	0	0	0	0	0	0	1	8169	214	8	2		2	KIAA0319L	1	35900615	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	446500	35900615	213350006	278	5386										
KIAA0319L	79932	hgsc.bcm.edu	37	chr1	35919979	35919979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaccaggttgcacaataacAgtcacttgagcagtggcctg	10	10	1	1	rs10796920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:35919979A>G	ENST00000325722.3	-	11	1998	c.1764T>C	c.(1762-1764)acT>acC	p.T588T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.T25T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	588	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCACAATAACAGTCACTTGAG	0.498													A|||	386	0.0770767	0.0348	0.1052	5008	,	,		22059	0.2371		0.003	False		,,,				2504	0.0256				p.T588T		Atlas-SNP	.											.	KIAA0319L	156	.	0			c.T1764C						PASS	.	A		147,4259	103.4+/-141.9	3,141,2059	190	153	165		1764	-0.6	1	1	dbSNP_120	165	25,8575	18.5+/-59.3	0,25,4275	no	coding-synonymous	KIAA0319L	NM_024874.4		3,166,6334	GG,GA,AA		0.2907,3.3364,1.3225		588/1050	35919979	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	79932	exon11			AATAACAGTCACT	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1764T>C	1.37:g.35919979A>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	165	80	0.484848	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	CCDS390.1																																																																																			A|0.959;G|0.041	0.041	strong		0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		G	35919979	A	G	35919979	2	3	22	1	0	0	0	0	0	0	0	1	8169	175	7	3		3	KIAA0319L	1	35919979	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19364	35919979	213330642	279	5387										
CLSPN	63967	hgsc.bcm.edu	37	chr1	36202585	36202585	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaaagacaaagtttcttGaatttcgaggagcactgggg	12	5	1	3	rs35490896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36202585G>A	ENST00000318121.3	-	24	3896	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	CLSPN_ENST00000373220.3_Missense_Mutation_p.S1216L|CLSPN_ENST00000466308.1_5'UTR|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Missense_Mutation_p.S1280L|CLSPN_ENST00000520551.1_Missense_Mutation_p.S1227L	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1280			S -> L (in dbSNP:rs35490896).		activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGTTTCTTGAATTTCGAGG	0.468													G|||	252	0.0503195	0.0817	0.0403	5008	,	,		16455	0.001		0.0686	False		,,,				2504	0.047				p.S1280L		Atlas-SNP	.											.	CLSPN	248	.	0			c.C3839T						PASS	.	G	LEU/SER,LEU/SER	362,4044	185.3+/-212.5	15,332,1856	96	98	97		3647,3839	4.3	1	1	dbSNP_126	97	558,8042	151.2+/-206.0	22,514,3764	yes	missense,missense	CLSPN	NM_001190481.1,NM_022111.3	145,145	37,846,5620	AA,AG,GG		6.4884,8.2161,7.0737	benign,benign	1216/1276,1280/1340	36202585	920,12086	2203	4300	6503	SO:0001583	missense	63967	exon24			TTTCTTGAATTTC	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3839C>T	1.37:g.36202585G>A	ENSP00000312995:p.Ser1280Leu	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	131	65	0.496183	NM_022111	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	110	0.05036630036630037	39	0.07926829268292683	18	0.049723756906077346	1	0.0017482517482517483	52	0.06860158311345646	G	16.28	3.079236	0.55753	0.082161	0.064884	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.27557	1.66;1.67;1.71;1.72	6.17	4.27	0.50696	.	0.342227	0.32147	N	0.006513	T	0.01353	0.0044	L	0.38531	1.155	0.28373	N	0.919928	B;B	0.13145	0.007;0.004	B;B	0.18561	0.006;0.022	T	0.03051	-1.1078	10	0.56958	D	0.05	-1.1164	12.7114	0.57092	0.1297:0.0:0.8703:0.0	rs35490896;rs61751001	1216;1280	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	L	1280;1280;1216;1227	ENSP00000251195:S1280L;ENSP00000312995:S1280L;ENSP00000362317:S1216L;ENSP00000428848:S1227L	ENSP00000251195:S1280L	S	-	2	0	CLSPN	35975172	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.342000	0.52159	0.886000	0.36113	0.655000	0.94253	TCA	G|0.935;A|0.065	0.065	strong		0.468	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		A	36202585	G	A	36202585	3	1	22	1	0	0	0	0	1	0	0	0	3560	1294	45	2	188	2	CLSPN	1	36202585	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	282606	36202585	213048036	280	5388										
CLSPN	63967	hgsc.bcm.edu	37	chr1	36225948	36225948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtaaaggattacctctgTtggtttcaggttcaagtatc	9	6	3	0	rs7537203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36225948T>C	ENST00000318121.3	-	8	1631	c.1574A>G	c.(1573-1575)aAc>aGc	p.N525S	CLSPN_ENST00000520551.1_Missense_Mutation_p.N525S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N525S|CLSPN_ENST00000251195.5_Missense_Mutation_p.N525S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	525			N -> S (in dbSNP:rs7537203).		activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATTACCTCTGTTGGTTTCAGG	0.438													T|||	2272	0.453674	0.674	0.4323	5008	,	,		18733	0.7401		0.1352	False		,,,				2504	0.2035				p.N525S		Atlas-SNP	.											.	CLSPN	248	.	0			c.A1574G						PASS	.	T	SER/ASN,SER/ASN	2607,1799	641.4+/-397.5	778,1051,374	88	82	84		1574,1574	5.1	1	1	dbSNP_116	84	1148,7452	235.8+/-268.3	90,968,3242	yes	missense,missense	CLSPN	NM_001190481.1,NM_022111.3	46,46	868,2019,3616	CC,CT,TT		13.3488,40.8307,28.8713	benign,benign	525/1276,525/1340	36225948	3755,9251	2203	4300	6503	SO:0001583	missense	63967	exon8			CCTCTGTTGGTTT	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1574A>G	1.37:g.36225948T>C	ENSP00000312995:p.Asn525Ser	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	1010	0.4624542124542125	316	0.6422764227642277	143	0.39502762430939226	449	0.784965034965035	102	0.1345646437994723	T	19.48	3.835941	0.71373	0.591693	0.133488	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.30182	1.62;1.63;1.73;1.54	5.08	5.08	0.68730	.	0.046376	0.85682	D	0.000000	T	0.00012	0.0000	M	0.72894	2.215	0.25761	P	0.984948	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	T	0.15292	-1.0442	9	0.44086	T	0.13	-16.2566	13.4062	0.60915	0.0:0.0:0.0:1.0	rs7537203;rs57440681;rs7537203	525;525	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	S	525	ENSP00000251195:N525S;ENSP00000312995:N525S;ENSP00000362317:N525S;ENSP00000428848:N525S	ENSP00000251195:N525S	N	-	2	0	CLSPN	35998535	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.600000	0.54052	1.907000	0.55213	0.482000	0.46254	AAC	T|0.628;C|0.372	0.372	strong		0.438	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		C	36225948	T	C	36225948	3	2	22	1	0	0	0	0	1	0	0	0	3560	1725	60	2	2517	2	CLSPN	1	36225948	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23363	36225948	213024673	281	5389										
EIF2C1	26523	hgsc.bcm.edu	37	chr1	36359669	36359669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttttataaggcacagccAgtgattgagttcatgtgtga	11	7	1	3	rs2296470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36359669A>G	ENST00000373204.4	+	6	894	c.681A>G	c.(679-681)ccA>ccG	p.P227P	AGO1_ENST00000373206.1_Silent_p.P152P	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	227	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGGCACAGCCAGTGATTGAGT	0.517													A|||	1536	0.306709	0.3994	0.3314	5008	,	,		20705	0.6558		0.0129	False		,,,				2504	0.1063				p.P227P		Atlas-SNP	.											.	.	.	.	0			c.A681G						PASS	.	A		1544,2862	486.5+/-360.6	272,1000,931	95	92	93		681	-4.1	1	1	dbSNP_100	93	75,8525	44.9+/-103.4	0,75,4225	no	coding-synonymous	EIF2C1	NM_012199.2		272,1075,5156	GG,GA,AA		0.8721,35.0431,12.4481		227/858	36359669	1619,11387	2203	4300	6503	SO:0001819	synonymous_variant	26523	exon6			ACAGCCAGTGATT	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.681A>G	1.37:g.36359669A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	73	35	0.479452	NM_012199	Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																			A|0.788;G|0.212	0.212	strong		0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			G	36359669	A	G	36359669	2	3	22	1	0	0	0	0	0	0	0	1	5005	175	7	3		3	EIF2C1	1	36359669	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	133721	36359669	212890952	282	5390										
EIF2C3	192669	hgsc.bcm.edu	37	chr1	36521340	36521340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttacgcacaatgtacttCgcttaaatagtccaagtata	5	10	0	0	rs61743816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36521340C>T	ENST00000373191.4	+	19	2926	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	AGO3_ENST00000246314.6_Silent_p.F625F	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	859					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CAATGTACTTCGCTTAAATAG	0.428													C|||	48	0.00958466	0.034	0.0	5008	,	,		20951	0.0		0.003	False		,,,				2504	0.0				p.F859F		Atlas-SNP	.											.	.	.	.	0			c.C2577T						PASS	.	C	,	105,4301	81.9+/-120.4	2,101,2100	139	115	123		2577,1875	1.9	1	1	dbSNP_129	123	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	EIF2C3	NM_024852.3,NM_177422.2	,	2,106,6395	TT,TC,CC		0.0581,2.3831,0.8458	,	859/861,625/627	36521340	110,12896	2203	4300	6503	SO:0001819	synonymous_variant	192669	exon19			GTACTTCGCTTAA	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2577C>T	1.37:g.36521340C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	90	43	0.477778	NM_024852	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																			C|0.992;T|0.008	0.008	strong		0.428	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		T	36521340	C	T	36521340	2	4	22	1	0	0	0	0	0	0	0	1	5007	883	31	1		1	EIF2C3	1	36521340	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	161671	36521340	212729281	283	5391										
TEKT2	27285	hgsc.bcm.edu	37	chr1	36551495	36551495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcctctggatgtggccaTtgagtgcctgaccctgcggg	14	13	1	2	rs419653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36551495T>C	ENST00000207457.3	+	4	468	c.341T>C	c.(340-342)aTt>aCt	p.I114T	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	114			I -> T (in dbSNP:rs419653).		cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATGTGGCCATTGAGTGCCTG	0.587													T|||	65	0.0129792	0.0484	0.0014	5008	,	,		19232	0.0		0.0	False		,,,				2504	0.0				p.I114T		Atlas-SNP	.											.	TEKT2	32	.	0			c.T341C						PASS	.	T	THR/ILE	134,4272	95.7+/-134.4	5,124,2074	58	53	55		341	5.8	0.7	1	dbSNP_80	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TEKT2	NM_014466.2	89	5,125,6373	CC,CT,TT		0.0116,3.0413,1.038	benign	114/431	36551495	135,12871	2203	4300	6503	SO:0001583	missense	27285	exon4			TGGCCATTGAGTG	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.341T>C	1.37:g.36551495T>C	ENSP00000207457:p.Ile114Thr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	160	65	0.40625	NM_014466	A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	CCDS401.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	T	11.29	1.595161	0.28445	0.030413	1.16E-4	ENSG00000092850	ENST00000207457	T	0.02177	4.41	5.79	5.79	0.91817	.	0.454845	0.25833	N	0.028007	T	0.00468	0.0015	N	0.12182	0.205	0.33226	D	0.55525	B	0.23990	0.095	B	0.23574	0.047	T	0.49969	-0.8882	10	0.14252	T	0.57	.	16.1354	0.81481	0.0:0.0:0.0:1.0	rs419653;rs419653	114	Q9UIF3	TEKT2_HUMAN	T	114	ENSP00000207457:I114T	ENSP00000207457:I114T	I	+	2	0	TEKT2	36324082	0.589000	0.26807	0.652000	0.29579	0.988000	0.76386	1.835000	0.39181	2.207000	0.71202	0.533000	0.62120	ATT	T|0.990;C|0.010	0.010	strong		0.587	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		C	36551495	T	C	36551495	3	2	22	1	0	0	0	0	1	0	0	0	15750	1493	52	2	351	2	TEKT2	1	36551495	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30155	36551495	212699126	284	5392										
ADPRHL2	54936	hgsc.bcm.edu	37	chr1	36557619	36557619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagggcgagtcttccagcGagcactttctcaagcaactc	10	13	2	0	rs2236387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36557619G>A	ENST00000373178.4	+	4	655	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	209			E -> K (in dbSNP:rs2236387). {ECO:0000269|Ref.5}.			mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GTCTTCCAGCGAGCACTTTCT	0.627													G|||	872	0.174121	0.3018	0.2493	5008	,	,		18600	0.2431		0.008	False		,,,				2504	0.0481				p.E209K		Atlas-SNP	.											.	ADPRHL2	25	.	0			c.G625A						PASS	.	G	LYS/GLU	1070,3336	385.8+/-325.9	119,832,1252	90	87	88		625	3.6	0.6	1	dbSNP_98	88	46,8554	29.6+/-80.5	0,46,4254	yes	missense	ADPRHL2	NM_017825.2	56	119,878,5506	AA,AG,GG		0.5349,24.2851,8.5807	benign	209/364	36557619	1116,11890	2203	4300	6503	SO:0001583	missense	54936	exon4			TCCAGCGAGCACT	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.625G>A	1.37:g.36557619G>A	ENSP00000362273:p.Glu209Lys	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	256	131	0.511719	NM_017825	Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	CCDS402.1	392	0.1794871794871795	143	0.29065040650406504	84	0.23204419889502761	159	0.27797202797202797	6	0.0079155672823219	G	9.241	1.038237	0.19669	0.242851	0.005349	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.34472	1.36	5.48	3.61	0.41365	.	0.266755	0.42821	N	0.000650	T	0.00012	0.0000	L	0.58510	1.815	0.30939	P	0.7259979999999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19745	-1.0296	9	0.24483	T	0.36	-29.8068	16.3192	0.82939	0.0925:0.0:0.9075:0.0	rs2236387;rs52806607;rs56497330;rs57078360;rs2236387	209	Q9NX46	ARHL2_HUMAN	K	209;129;55	ENSP00000362273:E209K	ENSP00000362273:E209K	E	+	1	0	ADPRHL2	36330206	0.984000	0.35163	0.583000	0.28640	0.388000	0.30384	2.148000	0.42235	0.293000	0.22520	-1.736000	0.00690	GAG	G|0.871;A|0.129	0.129	strong		0.627	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		A	36557619	G	A	36557619	3	1	22	1	0	0	0	0	1	0	0	0	333	1059	37	1	639	1	ADPRHL2	1	36557619	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6124	36557619	212693002	285	5393										
THRAP3	9967	hgsc.bcm.edu	37	chr1	36752687	36752687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacatcccagatgggctcaActctgccgagtggtgccggg	14	13	2	1	rs58840555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36752687A>G	ENST00000354618.5	+	4	1080	c.856A>G	c.(856-858)Act>Gct	p.T286A	THRAP3_ENST00000469141.2_Missense_Mutation_p.T286A	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	286	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATGGGCTCAACTCTGCCGAG	0.597			T	USP6	aneurysmal bone cysts								A|||	283	0.0565096	0.1997	0.0274	5008	,	,		19531	0.0		0.0	False		,,,				2504	0.0				p.T286A	Pancreas(129;785 1795 20938 23278 32581)	Atlas-SNP	.		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	THRAP3	93	.	0			c.A856G						PASS	.	A	ALA/THR	773,3633	311.1+/-291.9	88,597,1518	75	77	76		856	-10.2	0.1	1	dbSNP_129	76	9,8591	7.1+/-27.0	0,9,4291	no	missense	THRAP3	NM_005119.3	58	88,606,5809	GG,GA,AA		0.1047,17.5443,6.0126	benign	286/956	36752687	782,12224	2203	4300	6503	SO:0001583	missense	9967	exon4			GGCTCAACTCTGC	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.856A>G	1.37:g.36752687A>G	ENSP00000346634:p.Thr286Ala	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	121	49	0.404959	NM_005119	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	101	0.04624542124542125	89	0.18089430894308944	12	0.03314917127071823	0	0.0	0	0.0	A	0.128	-1.116496	0.01799	0.175443	0.001047	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12774	2.65;2.65	5.85	-10.2	0.00374	.	0.656822	0.15045	N	0.283624	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12967	-1.0527	9	0.06365	T	0.9	0.3741	7.9158	0.29816	0.1879:0.0:0.445:0.3671	rs58840555;rs61732681	286	Q9Y2W1	TR150_HUMAN	A	286	ENSP00000346634:T286A;ENSP00000433825:T286A	ENSP00000346634:T286A	T	+	1	0	THRAP3	36525274	0.000000	0.05858	0.133000	0.22050	0.263000	0.26337	-0.599000	0.05700	-2.368000	0.00604	-2.215000	0.00298	ACT	A|0.946;G|0.054	0.054	strong		0.597	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		G	36752687	A	G	36752687	3	3	22	1	0	0	0	0	1	0	0	0	15871	43	2	2	862	2	THRAP3	1	36752687	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	195068	36752687	212497934	286	5394										
STK40	83931	hgsc.bcm.edu	37	chr1	36820015	36820015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtctctgtgcacgatattTttctgtaaaacaacaggcgt	9	8	2	0	rs115120808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36820015T>C	ENST00000373129.3	-	7	979	c.573A>G	c.(571-573)aaA>aaG	p.K191K	STK40_ENST00000373132.3_Silent_p.K191K|STK40_ENST00000373130.3_Silent_p.K196K|STK40_ENST00000482458.1_5'Flank|STK40_ENST00000359297.2_Silent_p.K191K	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			Missing (in Ref. 2; BAC11371). {ECO:0000305}.	glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GCACGATATTTTTCTGTAAAA	0.527													T|||	55	0.0109824	0.0401	0.0029	5008	,	,		20477	0.0		0.0	False		,,,				2504	0.0				p.K191K		Atlas-SNP	.											.	STK40	53	.	0			c.A573G						PASS	.	T		162,4244	109.1+/-147.4	5,152,2046	189	177	181		573	3	1	1	dbSNP_132	181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STK40	NM_032017.1		5,153,6345	CC,CT,TT		0.0116,3.6768,1.2533		191/436	36820015	163,12843	2203	4300	6503	SO:0001819	synonymous_variant	83931	exon7			GATATTTTTCTGT	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.573A>G	1.37:g.36820015T>C		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	173	81	0.468208	NM_032017	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	37	CCDS407.1																																																																																			T|0.990;C|0.010	0.010	strong		0.527	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		C	36820015	T	C	36820015	2	2	22	1	0	0	0	0	0	0	0	1	15306	1838	64	2		2	STK40	1	36820015	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67328	36820015	212430606	287	5395										
CSF3R	1441	hgsc.bcm.edu	37	chr1	36933493	36933493	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctggcagccatgaggtgGatgtgatacagactggcggg	18	7	0	3	rs3917998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:36933493G>A	ENST00000373106.1	-	14	2341	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	CSF3R_ENST00000331941.5_Silent_p.I598I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373103.1_Silent_p.I598I|CSF3R_ENST00000440588.2_Silent_p.I598I|CSF3R_ENST00000338937.5_Silent_p.I598I|CSF3R_ENST00000373104.1_Silent_p.I598I|CSF3R_ENST00000418048.2_Silent_p.I598I|CSF3R_ENST00000361632.4_Silent_p.I598I	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	598	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCATGAGGTGGATGTGATACA	0.632													G|||	39	0.00778754	0.0287	0.0014	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.0				p.I598I		Atlas-SNP	.											.	CSF3R	157	.	0			c.C1794T						PASS	.	G	,,	110,4296	85.3+/-124.0	1,108,2094	62	72	68		1794,1794,1794	0.9	0.8	1	dbSNP_108	68	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CSF3R	NM_000760.3,NM_156039.3,NM_172313.2	,,	1,113,6389	AA,AG,GG		0.0581,2.4966,0.8842	,,	598/837,598/864,598/784	36933493	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	1441	exon14			GAGGTGGATGTGA	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1794C>T	1.37:g.36933493G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	142	69	0.485915	NM_156039		Silent	SNP	ENST00000373106.1	37	CCDS413.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	1.164	-0.642824	0.03531	0.024966	5.81E-4	ENSG00000119535	ENST00000464465	.	.	.	5.33	0.847	0.18961	.	.	.	.	.	T	0.37625	0.1010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	-20.3197	6.8146	0.23822	0.0808:0.1894:0.6261:0.1037	rs3917998;rs3917998	.	.	.	F	150	.	.	S	-	2	0	CSF3R	36706080	0.985000	0.35326	0.819000	0.32651	0.078000	0.17371	0.083000	0.14871	0.245000	0.21373	-0.797000	0.03246	TCC	G|0.991;A|0.009	0.009	strong		0.632	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		A	36933493	G	A	36933493	2	1	22	1	0	0	0	0	0	0	0	1	3937	1164	41	2		2	CSF3R	1	36933493	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113478	36933493	212317128	288	5396										
GRIK3	2899	hgsc.bcm.edu	37	chr1	37325477	37325477	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccagcaggccagactcggAccggggagctgcctgcagcc	14	15	0	1	rs6691840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:37325477A>C	ENST00000373091.3	-	6	944	c.928T>G	c.(928-930)Tcc>Gcc	p.S310A	GRIK3_ENST00000373093.4_Missense_Mutation_p.S310A|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	310			S -> A (in dbSNP:rs6691840). {ECO:0000269|PubMed:11124978, ECO:0000269|PubMed:7719709}.		adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|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)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCAGACTCGGACCGGGGAGCT	0.587													C|||	1533	0.30611	0.6203	0.2709	5008	,	,		15135	0.0446		0.2952	False		,,,				2504	0.1871				p.S310A		Atlas-SNP	.											.	GRIK3	195	.	0			c.T928G	GRCh37	CM025291	GRIK3	M	rs6691840	PASS	.	C	ALA/SER	2371,2035	558.9+/-380.1	676,1019,508	61	66	64		928	3.8	0	1	dbSNP_116	64	2295,6305	701.5+/-405.2	308,1679,2313	yes	missense	GRIK3	NM_000831.3	99	984,2698,2821	CC,CA,AA		26.686,46.187,35.8757	benign	310/920	37325477	4666,8340	2203	4300	6503	SO:0001583	missense	2899	exon6			ACTCGGACCGGGG	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.928T>G	1.37:g.37325477A>C	ENSP00000362183:p.Ser310Ala	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	140	61	0.435714	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	638	0.29212454212454214	290	0.5894308943089431	99	0.27348066298342544	18	0.03146853146853147	231	0.30474934036939316	C	3.703	-0.061061	0.07317	0.53813	0.26686	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.21361	2.01;2.01	5.7	3.85	0.44370	Extracellular ligand-binding receptor (1);	0.386683	0.29225	N	0.012766	T	0.00012	0.0000	N	0.04090	-0.28	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.46925	-0.9156	9	0.02654	T	1	.	3.8289	0.08865	0.1225:0.5114:0.2339:0.1322	rs6691840;rs6691840	310;310	A9Z1Z8;Q13003	.;GRIK3_HUMAN	A	310	ENSP00000362183:S310A;ENSP00000362185:S310A	ENSP00000362183:S310A	S	-	1	0	GRIK3	37098064	0.539000	0.26402	0.030000	0.17652	0.303000	0.27691	0.914000	0.28624	0.365000	0.24400	-0.121000	0.15023	TCC	A|0.660;C|0.340	0.340	strong		0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		C	37325477	A	C	37325477	3	2	22	1	0	0	0	0	1	0	0	0	6775	275	10	5	1875	5	GRIK3	1	37325477	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	391984	37325477	211925144	289	5397										
C1orf109	54955	hgsc.bcm.edu	37	chr1	38155319	38155319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgatgtcaccagccacCagctgcttacgcctcagccg	10	16	2	0	rs61731880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38155319C>T	ENST00000358011.4	-	2	423	c.234G>A	c.(232-234)ctG>ctA	p.L78L	CDCA8_ENST00000373055.1_5'Flank|CDCA8_ENST00000327331.2_5'Flank|C1orf109_ENST00000464085.1_Silent_p.L78L	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	78										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CACCAGCCACCAGCTGCTTAC	0.547													C|||	196	0.0391374	0.1369	0.0202	5008	,	,		18248	0.0		0.001	False		,,,				2504	0.0				p.L78L		Atlas-SNP	.											.	C1orf109	13	.	0			c.G234A						PASS	.	C		501,3905	225.2+/-241.2	27,447,1729	93	99	97		234	2.7	0.5	1	dbSNP_129	97	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	C1orf109	NM_017850.1		27,450,6026	TT,TC,CC		0.0349,11.3709,3.8751		78/204	38155319	504,12502	2203	4300	6503	SO:0001819	synonymous_variant	54955	exon2			AGCCACCAGCTGC	AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.234G>A	1.37:g.38155319C>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	214	103	0.481308	NM_017850	D3DPT1|Q8WVD1	Silent	SNP	ENST00000358011.4	37	CCDS423.1																																																																																			C|0.966;T|0.034	0.034	strong		0.547	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012486.1	NM_017850		T	38155319	C	T	38155319	2	4	22	1	0	0	0	0	0	0	0	1	1982	581	21	2		2	C1orf109	1	38155319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	829842	38155319	211095302	290	5398										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38184470	38184470	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtggagaaggcacggtcCgctagtggggtgggaggcct	20	7	0	1	rs610213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38184470C>G	ENST00000373048.4	-	16	2774	c.2775G>C	c.(2773-2775)gcG>gcC	p.A925A	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Silent_p.A925A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.A420A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	925					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCACGGTCCGCTAGTGGGG	0.677													C|||	561	0.112021	0.1793	0.0865	5008	,	,		17325	0.001		0.1551	False		,,,				2504	0.1094				p.A925A		Atlas-SNP	.											.	EPHA10	120	.	0			c.G2775C						PASS	.	C		702,3364		57,588,1388	19	24	22		2775	-3.1	1	1	dbSNP_83	22	1373,6981		115,1143,2919	no	coding-synonymous	EPHA10	NM_001099439.1		172,1731,4307	GG,GC,CC		16.4352,17.2651,16.7069		925/1009	38184470	2075,10345	2033	4177	6210	SO:0001819	synonymous_variant	284656	exon16			ACGGTCCGCTAGT	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2775G>C	1.37:g.38184470C>G		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	224	101	0.450893	NM_001099439	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																			C|0.889;G|0.111	0.111	strong		0.677	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		G	38184470	C	G	38184470	2	3	22	1	0	0	0	0	0	0	0	1	5166	639	23	4		4	EPHA10	1	38184470	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29151	38184470	211066151	291	5399										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38185169	38185169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtggatctgggagaacctGggccgctcacctgggtcctt	14	12	2	1	rs35909785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38185169G>A	ENST00000373048.4	-	15	2672	c.2673C>T	c.(2671-2673)ccC>ccT	p.P891P	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.P891P|EPHA10_ENST00000330210.7_Silent_p.P386P|EPHA10_ENST00000540011.1_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGAGAACCTGGGCCGCTCAC	0.617													G|||	496	0.0990415	0.1241	0.0937	5008	,	,		18548	0.2351		0.006	False		,,,				2504	0.0245				p.P891P		Atlas-SNP	.											.	EPHA10	120	.	0			c.C2673T						PASS	.	G		358,3724		13,332,1696	48	57	54		2673	0.9	1	1	dbSNP_126	54	46,8336		0,46,4145	no	coding-synonymous	EPHA10	NM_001099439.1		13,378,5841	AA,AG,GG		0.5488,8.7702,3.2413		891/1009	38185169	404,12060	2041	4191	6232	SO:0001819	synonymous_variant	284656	exon15			GAACCTGGGCCGC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2673C>T	1.37:g.38185169G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	192	88	0.458333	NM_001099439	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																			G|0.936;A|0.064	0.064	strong		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38185169	G	A	38185169	2	1	22	1	0	0	0	0	0	0	0	1	5166	1335	47	2		2	EPHA10	1	38185169	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	699	38185169	211065452	292	5400										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38186189	38186189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccagcccaggcagcaacCccatcagttgcccagccacc	8	19	1	0	rs6671088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38186189C>T	ENST00000373048.4	-	13	2245	c.2246G>A	c.(2245-2247)gGg>gAg	p.G749E	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.G749E|EPHA10_ENST00000330210.7_Missense_Mutation_p.G244E|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	749	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in dbSNP:rs6671088).		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCAGCAACCCCATCAGTTG	0.632													C|||	561	0.112021	0.1785	0.0879	5008	,	,		17125	0.001		0.1551	False		,,,				2504	0.1094				p.G749E		Atlas-SNP	.											EPHA10,NS,carcinoma,0,2	EPHA10	120	2	0			c.G2246A						PASS	.	C	GLU/GLY	729,3437		60,609,1414	20	25	23		2246	4	1	1	dbSNP_116	23	1367,7027		112,1143,2942	yes	missense	EPHA10	NM_001099439.1	98	172,1752,4356	TT,TC,CC		16.2854,17.4988,16.6879	probably-damaging	749/1009	38186189	2096,10464	2083	4197	6280	SO:0001583	missense	284656	exon13			AGCAACCCCATCA	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2246G>A	1.37:g.38186189C>T	ENSP00000362139:p.Gly749Glu	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	257	109	0.424125	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	238	0.10897435897435898	88	0.17886178861788618	36	0.09944751381215469	0	0.0	114	0.1503957783641161	C	20.3	3.971582	0.74246	0.174988	0.162854	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.81739	-1.53;-1.53;-1.53	4.93	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38111	N	0.001809	T	0.00300	0.0009	N	0.20530	0.585	0.09310	P	0.9999999999999999	P	0.46277	0.875	B	0.40477	0.33	T	0.30592	-0.9973	9	0.87932	D	0	.	14.3163	0.66452	0.0:0.7191:0.2809:0.0	rs6671088;rs59740185;rs6671088	749	Q5JZY3	EPHAA_HUMAN	E	244;749;749	ENSP00000330379:G244E;ENSP00000397746:G749E;ENSP00000362139:G749E	ENSP00000330379:G244E	G	-	2	0	EPHA10	37958776	0.964000	0.33143	0.990000	0.47175	0.974000	0.67602	2.038000	0.41184	1.059000	0.40554	0.467000	0.42956	GGG	C|0.875;T|0.125	0.125	strong		0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38186189	C	T	38186189	3	4	22	1	0	0	0	0	1	0	0	0	5166	623	22	2	800	2	EPHA10	1	38186189	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1020	38186189	211064432	293	5401										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38188736	38188736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaaggctcctctccagcGtgacgcttttcgcatccagt	8	16	1	1	rs146568133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38188736G>A	ENST00000373048.4	-	10	1936	c.1937C>T	c.(1936-1938)aCg>aTg	p.T646M	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.T646M|EPHA10_ENST00000330210.7_Missense_Mutation_p.T141M|EPHA10_ENST00000540011.1_Missense_Mutation_p.T141M	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCTCCAGCGTGACGCTTTT	0.617													G|||	5	0.000998403	0.003	0.0	5008	,	,		19137	0.0		0.001	False		,,,				2504	0.0				p.T646M		Atlas-SNP	.											.	EPHA10	120	.	0			c.C1937T						PASS	.	G	MET/THR	16,4208		0,16,2096	53	59	57		1937	0.7	0.6	1	dbSNP_134	57	3,8429		0,3,4213	yes	missense	EPHA10	NM_001099439.1	81	0,19,6309	AA,AG,GG		0.0356,0.3788,0.1501	probably-damaging	646/1009	38188736	19,12637	2112	4216	6328	SO:0001583	missense	284656	exon10			TCCAGCGTGACGC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1937C>T	1.37:g.38188736G>A	ENSP00000362139:p.Thr646Met	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	6.575	0.474435	0.12521	0.003788	3.56E-4	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	D;D;T;D	0.83250	-1.7;-1.7;2.32;-1.7	3.96	0.672	0.17935	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.805996	0.10139	N	0.711048	T	0.66005	0.2746	L	0.41632	1.29	0.21579	N	0.99964	B	0.22851	0.076	B	0.17433	0.018	T	0.60321	-0.7286	10	0.66056	D	0.02	.	3.9999	0.09576	0.2121:0.0:0.4597:0.3283	.	646	Q5JZY3	EPHAA_HUMAN	M	141;646;141;646	ENSP00000330379:T141M;ENSP00000397746:T646M;ENSP00000441822:T141M;ENSP00000362139:T646M	ENSP00000330379:T141M	T	-	2	0	EPHA10	37961323	0.800000	0.28916	0.606000	0.28943	0.055000	0.15305	1.113000	0.31184	0.274000	0.22072	-0.657000	0.03884	ACG	G|0.999;A|0.001	0.001	strong		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38188736	G	A	38188736	3	1	22	1	0	0	0	0	1	0	0	0	5166	1145	40	1	1121	1	EPHA10	1	38188736	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2547	38188736	211061885	294	5402										
EPHA10	284656	hgsc.bcm.edu	37	chr1	38197214	38197214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgacggtgactgtgggcGcccctgtcttcaccatggag	15	11	2	2	rs141193695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38197214G>A	ENST00000373048.4	-	7	1531	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	EPHA10_ENST00000540011.1_Missense_Mutation_p.A6V|EPHA10_ENST00000427468.2_Missense_Mutation_p.A511V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A6V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	511	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACTGTGGGCGCCCCTGTCTT	0.587													G|||	4	0.000798722	0.003	0.0	5008	,	,		15942	0.0		0.0	False		,,,				2504	0.0				p.A511V		Atlas-SNP	.											EPHA10,colon,carcinoma,+1,1	EPHA10	120	1	0			c.C1532T						PASS	.	G	VAL/ALA	16,3888		0,16,1936	106	106	106		1532	2.9	0.3	1	dbSNP_134	106	1,8293		0,1,4146	yes	missense	EPHA10	NM_001099439.1	64	0,17,6082	AA,AG,GG		0.0121,0.4098,0.1394	possibly-damaging	511/1009	38197214	17,12181	1952	4147	6099	SO:0001583	missense	284656	exon7			GTGGGCGCCCCTG	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1532C>T	1.37:g.38197214G>A	ENSP00000362139:p.Ala511Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	47	0.02152014652014652	14	0.028455284552845527	4	0.011049723756906077	9	0.015734265734265736	20	0.026385224274406333	G	11.32	1.603665	0.28534	0.004098	1.21E-4	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.76448	-1.02;0.36;-1.02;0.36	4.77	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.526148	0.16039	N	0.232481	T	0.42268	0.1195	L	0.47016	1.485	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.41305	-0.9516	9	.	.	.	.	5.1724	0.15118	0.172:0.0:0.6615:0.1665	.	511	Q5JZY3	EPHAA_HUMAN	V	6;511;6;511	ENSP00000330379:A6V;ENSP00000397746:A511V;ENSP00000441822:A6V;ENSP00000362139:A511V	.	A	-	2	0	EPHA10	37969801	0.972000	0.33761	0.319000	0.25293	0.345000	0.29048	3.224000	0.51238	0.605000	0.29947	0.563000	0.77884	GCG	G|0.979;A|0.021	0.021	strong		0.587	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38197214	G	A	38197214	3	1	22	1	0	0	0	0	1	0	0	0	5166	1087	38	1	1538	1	EPHA10	1	38197214	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8478	38197214	211053407	295	5403										
INPP5B	3633	hgsc.bcm.edu	37	chr1	38411444	38411444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacgcgtgttcctggccgcCgtgctccaggcggtagcgca	14	15	1	0	rs56993041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38411444C>T	ENST00000373026.1	-	2	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	INPP5B_ENST00000373023.2_Missense_Mutation_p.G46S|INPP5B_ENST00000373024.3_Missense_Mutation_p.G46S|INPP5B_ENST00000373021.1_Missense_Mutation_p.G46S			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	46	PH.		G -> S (in dbSNP:rs56993041).		in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCTGGCCGCCGTGCTCCAGG	0.652													C|||	143	0.0285543	0.1021	0.0115	5008	,	,		15864	0.0		0.0	False		,,,				2504	0.0				p.G46S		Atlas-SNP	.											.	INPP5B	76	.	0			c.G136A						PASS	.	C	SER/GLY	341,3813		12,317,1748	54	65	61		136	4.4	0	1	dbSNP_129	61	0,8390		0,0,4195	yes	missense	INPP5B	NM_005540.2	56	12,317,5943	TT,TC,CC		0.0,8.209,2.7184	possibly-damaging	46/914	38411444	341,12203	2077	4195	6272	SO:0001583	missense	3633	exon3			GGCCGCCGTGCTC	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.136G>A	1.37:g.38411444C>T	ENSP00000362117:p.Gly46Ser	Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	215	118	0.548837	NM_005540	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		47	0.02152014652014652	44	0.08943089430894309	3	0.008287292817679558	0	0.0	0	0.0	C	15.32	2.799766	0.50208	0.08209	0.0	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.91945	-2.93;-2.93;-2.94;0.96	4.43	4.43	0.53597	.	0.993232	0.08181	N	0.985409	T	0.32763	0.0840	L	0.54323	1.7	0.80722	D	1	P	0.39920	0.695	B	0.32149	0.141	T	0.68047	-0.5512	10	0.51188	T	0.08	.	13.2598	0.60098	0.0:1.0:0.0:0.0	rs56993041;rs61744649	46	P32019-2	.	S	46	ENSP00000362114:G46S;ENSP00000362117:G46S;ENSP00000362115:G46S;ENSP00000362112:G46S	ENSP00000362112:G46S	G	-	1	0	INPP5B	38184031	0.009000	0.17119	0.018000	0.16275	0.185000	0.23345	2.347000	0.44036	2.411000	0.81874	0.563000	0.77884	GGC	C|0.978;T|0.022	0.022	strong		0.652	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		T	38411444	C	T	38411444	3	4	22	1	0	0	0	0	1	0	0	0	7755	652	23	1	2693	1	INPP5B	1	38411444	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	214230	38411444	210839177	296	5404										
SF3A3	10946	hgsc.bcm.edu	37	chr1	38433762	38433762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattagcaaagtgagcagtGtttgggatgcccaaacacct	10	9	0	1	rs59294668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:38433762G>A	ENST00000373019.4	-	15	2281	c.1326C>T	c.(1324-1326)aaC>aaT	p.N442N	SF3A3_ENST00000448721.2_Silent_p.N389N	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	442					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTGAGCAGTGTTTGGGATGC	0.448													G|||	79	0.0157748	0.0545	0.0101	5008	,	,		22415	0.0		0.0	False		,,,				2504	0.0				p.N442N		Atlas-SNP	.											.	SF3A3	37	.	0			c.C1326T						PASS	.	G		199,4207	123.3+/-160.7	7,185,2011	184	174	177		1326	-0.1	1	1	dbSNP_129	177	0,8600		0,0,4300	no	coding-synonymous	SF3A3	NM_006802.2		7,185,6311	AA,AG,GG		0.0,4.5166,1.5301		442/502	38433762	199,12807	2203	4300	6503	SO:0001819	synonymous_variant	10946	exon15			AGCAGTGTTTGGG	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1326C>T	1.37:g.38433762G>A		Somatic	478	2	0.0041841		WXS	Illumina HiSeq	Phase_I	500	294	0.588	NM_006802	D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	CCDS428.1																																																																																			G|0.983;A|0.017	0.017	strong		0.448	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		A	38433762	G	A	38433762	2	1	22	1	0	0	0	0	0	0	0	1	14148	1368	48	2		2	SF3A3	1	38433762	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22318	38433762	210816859	297	5405										
RRAGC	64121	hgsc.bcm.edu	37	chr1	39325136	39325136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgagcagaatcctcggCttggagctgtcagcgccccc	11	16	1	2	rs112925356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:39325136C>T	ENST00000373001.3	-	1	359	c.183G>A	c.(181-183)aaG>aaA	p.K61K	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATCCTCGGCTTGGAGCTGT	0.726													C|||	139	0.0277556	0.0658	0.0086	5008	,	,		6031	0.001		0.001	False		,,,				2504	0.045				p.K61K		Atlas-SNP	.											.	RRAGC	28	.	0			c.G183A						PASS	.	C		156,3314		2,152,1581	7	8	7		183	5	1	1	dbSNP_132	7	12,6612		0,12,3300	no	coding-synonymous	RRAGC	NM_022157.2		2,164,4881	TT,TC,CC		0.1812,4.4957,1.6644		61/400	39325136	168,9926	1735	3312	5047	SO:0001819	synonymous_variant	64121	exon1			CCTCGGCTTGGAG	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.183G>A	1.37:g.39325136C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_001271851		Silent	SNP	ENST00000373001.3	37	CCDS430.1																																																																																			C|0.978;T|0.022	0.022	strong		0.726	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		T	39325136	C	T	39325136	2	4	22	1	0	0	0	0	0	0	0	1	13674	796	28	2		2	RRAGC	1	39325136	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	891374	39325136	209925485	298	5406										
MACF1	23499	hgsc.bcm.edu	37	chr1	39853163	39853163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggttgagctcaaaaaccaTtgggaagagcttagtaaaaa	10	5	1	2	rs79901102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:39853163T>C	ENST00000372915.3	+	57	14751	c.14664T>C	c.(14662-14664)caT>caC	p.H4888H	MACF1_ENST00000564288.1_Silent_p.H4883H|MACF1_ENST00000361689.2_Silent_p.H2821H|MACF1_ENST00000545844.1_Silent_p.H2821H|MACF1_ENST00000539005.1_Silent_p.H2800H|MACF1_ENST00000317713.7_Silent_p.H2821H|MACF1_ENST00000567887.1_Silent_p.H4920H|MACF1_ENST00000289893.4_Silent_p.H3323H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4888					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAAAAACCATTGGGAAGAGC	0.438													T|||	125	0.0249601	0.0885	0.0086	5008	,	,		19483	0.0		0.001	False		,,,				2504	0.001				p.H2821H		Atlas-SNP	.											.	MACF1	909	.	0			c.T8463C						PASS	.	T	,	308,4096	161.1+/-193.3	8,292,1902	73	82	79		8463,9969	-12.3	0	1	dbSNP_131	79	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	8,295,6199	CC,CT,TT		0.0349,6.9936,2.3916	,	2821/5431,3323/5939	39853163	311,12693	2202	4300	6502	SO:0001819	synonymous_variant	23499	exon54			AAACCATTGGGAA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14664T>C	1.37:g.39853163T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																				T|0.975;C|0.025	0.025	strong		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39853163	T	C	39853163	2	2	22	1	0	0	0	0	0	0	0	1	9144	1490	52	2		2	MACF1	1	39853163	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	528027	39853163	209397458	299	5407										
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39879517	39879517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtggtggccaccctggagGaacccacttccccggcagct	12	16	0	0	rs587523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:39879517G>A	ENST00000530275.1	+	1	3367	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1058	Ala-rich.		E -> K (in dbSNP:rs587523).							central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCCTGGAGGAACCCACTTC	0.637													N|||	206	0.0411342	0.1392	0.0187	5008	,	,		13391	0.002		0.004	False		,,,				2504	0.0031				p.E1194K		Atlas-SNP	.											.	KIAA0754	93	.	0			c.G3580A						PASS	.	G	,,LYS/GLU	469,3435		31,407,1514	18	21	20		,,3580	0.1	0	1	dbSNP_83	20	47,8247		0,47,4100	yes	intron,intron,missense	MACF1,KIAA0754	NM_012090.4,NM_033044.3,NM_015038.1	,,56	31,454,5614	AA,AG,GG		0.5667,12.0133,4.2302	,,benign	,,1194/1428	39879517	516,11682	1952	4147	6099	SO:0001583	missense	643314	exon1			CTGGAGGAACCCA			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3172G>A	1.37:g.39879517G>A	ENSP00000431179:p.Glu1058Lys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	191	96	0.502618	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		81	0.03708791208791209	73	0.1483739837398374	6	0.016574585635359115	0	0.0	2	0.002638522427440633	N	13.03	2.116599	0.37339	0.120133	0.005667	ENSG00000255103	ENST00000530275	T	0.26223	1.75	3.58	0.0671	0.14364	.	.	.	.	.	T	0.00073	0.0002	N	0.14661	0.345	0.09310	N	1	B	0.27351	0.176	B	0.17433	0.018	T	0.32929	-0.9888	9	0.28530	T	0.3	.	7.1222	0.25450	0.0:0.1645:0.4977:0.3378	rs587523;rs587523	1058	O94854	K0754_HUMAN	K	1058	ENSP00000431179:E1058K	ENSP00000431179:E1058K	E	+	1	0	RP4-562N20.1	39652104	0.089000	0.21612	0.001000	0.08648	0.083000	0.17756	2.290000	0.43531	0.013000	0.14918	0.205000	0.17691	GAA	G|0.932;A|0.068	0.068	strong		0.637	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		A	39879517	G	A	39879517	3	1	22	1	0	0	0	0	1	0	0	0	8192	1175	41	2	3582	2	KIAA0754	1	39879517	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26354	39879517	209371104	300	5408										
MACF1	23499	hgsc.bcm.edu	37	chr1	39907949	39907949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaccactgacagaactcaAacacctctgggagaacctgg	9	12	2	4	rs682351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:39907949A>G	ENST00000372915.3	+	75	18689	c.18602A>G	c.(18601-18603)aAa>aGa	p.K6201R	MACF1_ENST00000564288.1_Missense_Mutation_p.K6302R|MACF1_ENST00000361689.2_Missense_Mutation_p.K4243R|MACF1_ENST00000545844.1_Missense_Mutation_p.K4243R|MACF1_ENST00000539005.1_Missense_Mutation_p.K4113R|MACF1_ENST00000317713.7_Missense_Mutation_p.K4243R|MACF1_ENST00000567887.1_Missense_Mutation_p.K6339R|MACF1_ENST00000289893.4_Missense_Mutation_p.K4745R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6201			K -> R (in dbSNP:rs682351).		ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGAACTCAAACACCTCTGG	0.453													A|||	60	0.0119808	0.0431	0.0043	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0				p.K4243R		Atlas-SNP	.											.	MACF1	909	.	0			c.A12728G						PASS	.	A	ARG/LYS,ARG/LYS	177,4229	114.6+/-152.6	3,171,2029	54	55	54		14234,12728	6	1	1	dbSNP_83	54	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	MACF1	NM_033044.3,NM_012090.4	26,26	3,174,6326	GG,GA,AA		0.0349,4.0172,1.384	benign,benign	4745/5939,4243/5431	39907949	180,12826	2203	4300	6503	SO:0001583	missense	23499	exon73			AACTCAAACACCT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18602A>G	1.37:g.39907949A>G	ENSP00000362006:p.Lys6201Arg	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	A	14.28	2.488881	0.44249	0.040172	3.49E-4	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000002	T	0.06781	0.0173	N	0.12637	0.245	0.80722	D	1	B;B	0.31413	0.003;0.322	B;B	0.33454	0.014;0.164	T	0.04128	-1.0975	10	0.38643	T	0.18	.	16.5582	0.84512	1.0:0.0:0.0:0.0	rs682351;rs52811310;rs682351	6201;4243	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	R	4243;6201;4243;4243;4113;4745	ENSP00000439537:K4243R;ENSP00000362006:K6201R;ENSP00000354573:K4243R;ENSP00000313438:K4243R;ENSP00000444364:K4113R;ENSP00000289893:K4745R	ENSP00000289893:K4745R	K	+	2	0	MACF1	39680536	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.094000	0.57721	2.308000	0.77769	0.533000	0.62120	AAA	A|0.986;G|0.014	0.014	strong		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39907949	A	G	39907949	3	3	22	1	0	0	0	0	1	0	0	0	9144	14	1	2	19165	2	MACF1	1	39907949	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	28432	39907949	209342672	301	5409										
MACF1	23499	hgsc.bcm.edu	37	chr1	39908506	39908506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttaaggagccgtttggaaGccatgaaccaatgctgggag	14	8	0	1	rs587404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:39908506G>A	ENST00000372915.3	+	77	19009	c.18922G>A	c.(18922-18924)Gcc>Acc	p.A6308T	MACF1_ENST00000564288.1_Missense_Mutation_p.A6409T|MACF1_ENST00000361689.2_Missense_Mutation_p.A4350T|MACF1_ENST00000545844.1_Missense_Mutation_p.A4350T|MACF1_ENST00000539005.1_Missense_Mutation_p.A4220T|MACF1_ENST00000317713.7_Missense_Mutation_p.A4350T|MACF1_ENST00000567887.1_Missense_Mutation_p.A6446T|MACF1_ENST00000289893.4_Missense_Mutation_p.A4852T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6308			A -> T (in dbSNP:rs587404).		ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGTTTGGAAGCCATGAACCA	0.502													A|||	1723	0.34405	0.5106	0.3156	5008	,	,		20152	0.3462		0.2823	False		,,,				2504	0.2004				p.A4350T		Atlas-SNP	.											MACF1_ENST00000361689,NS,carcinoid-endocrine_tumour,-1,2	MACF1	909	2	0			c.G13048A						PASS	.	A	THR/ALA,THR/ALA	2069,2337	607.1+/-390.9	472,1125,606	63	54	57		14554,13048	5.8	1	1	dbSNP_83	57	2637,5963	686.1+/-404.1	418,1801,2081	yes	missense,missense	MACF1	NM_033044.3,NM_012090.4	58,58	890,2926,2687	AA,AG,GG		30.6628,46.9587,36.1833	benign,benign	4852/5939,4350/5431	39908506	4706,8300	2203	4300	6503	SO:0001583	missense	23499	exon75			TTGGAAGCCATGA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18922G>A	1.37:g.39908506G>A	ENSP00000362006:p.Ala6308Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	71	0.572581	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		770|770	0.3525641025641026|0.3525641025641026	259|259	0.5264227642276422|0.5264227642276422	117|117	0.32320441988950277|0.32320441988950277	192|192	0.3356643356643357|0.3356643356643357	202|202	0.26649076517150394|0.26649076517150394	A|A	8.201|8.201	0.798095|0.798095	0.16397|0.16397	0.469587|0.469587	0.306628|0.306628	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.51574|.	1.3;0.7;1.3;1.3;1.3;0.7|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.195229|.	0.36066|.	N|.	0.002819|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01874|0.01874	-0.695|-0.695	0.40421|0.40421	P|P	0.02015699999999998|0.02015699999999998	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.41822|0.41822	-0.9487|-0.9487	9|4	0.02654|.	T|.	1|.	.|.	9.6911|9.6911	0.40129|0.40129	0.8135:0.0:0.1865:0.0|0.8135:0.0:0.1865:0.0	rs587404;rs52831614;rs58672434;rs587404|rs587404;rs52831614;rs58672434;rs587404	6308;4350|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	T|N	4350;6308;4350;4350;4220;4852|3353	ENSP00000439537:A4350T;ENSP00000362006:A6308T;ENSP00000354573:A4350T;ENSP00000313438:A4350T;ENSP00000444364:A4220T;ENSP00000289893:A4852T|.	ENSP00000289893:A4852T|.	A|S	+|+	1|2	0|0	MACF1|MACF1	39681093|39681093	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.976000|0.976000	0.68499|0.68499	1.859000|1.859000	0.39418|0.39418	1.035000|1.035000	0.39972|0.39972	-0.254000|-0.254000	0.11334|0.11334	GCC|AGC	G|0.640;A|0.360	0.360	strong		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39908506	G	A	39908506	3	1	22	1	0	0	0	0	1	0	0	0	9144	971	34	2	19493	2	MACF1	1	39908506	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	557	39908506	209342115	302	5410										
OXCT2	64064	hgsc.bcm.edu	37	chr1	40236074	40236074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctccatcttcctctttcAggatcgttaagcgctcaatt	6	13	5	0	rs230321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40236074A>C	ENST00000327582.5	-	1	946	c.854T>G	c.(853-855)cTg>cGg	p.L285R	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	285			L -> R (in dbSNP:rs230321).		ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTCCTCTTTCAGGATCGTTAA	0.517											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L285R		Atlas-SNP	.											.	OXCT2	12	.	0			c.T854G						PASS	.						66	95	85					1																	40236074		2185	4292	6477	SO:0001583	missense	64064	exon1			TCTTTCAGGATCG	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.854T>G	1.37:g.40236074A>C	ENSP00000361914:p.Leu285Arg	Somatic	247	0	0	891	WXS	Illumina HiSeq	Phase_I	73	73	1	NM_022120	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	CCDS445.1	478	0.21886446886446886	165	0.3353658536585366	83	0.2292817679558011	65	0.11363636363636363	165	0.21767810026385223	c	0.015	-1.566349	0.00903	.	.	ENSG00000198754	ENST00000327582	T	0.78707	-1.2	2.58	-2.11	0.07187	.	0.524948	0.19120	N	0.122206	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06409	-1.0828	8	0.02654	T	1	.	3.2824	0.06920	0.4418:0.2322:0.0:0.3259	rs230321;rs7554008	285;285	B3KS89;Q9BYC2	.;SCOT2_HUMAN	R	285	ENSP00000361914:L285R	ENSP00000361914:L285R	L	-	2	0	OXCT2	40008661	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-0.958000	0.03622	-1.167000	0.01749	CTG	A|0.750;C|0.250	0.250	weak		0.517	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120		C	40236074	A	C	40236074	3	2	22	1	0	0	0	0	1	0	0	0	11330	188	7	5	703	5	OXCT2	1	40236074	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	327568	40236074	209014547	303	5411										
TRIT1	54802	hgsc.bcm.edu	37	chr1	40349131	40349131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctgagcccactgcccacGggaactgctcgtgcagccgc	11	19	0	1	rs3845570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40349131G>A	ENST00000316891.5	-	1	47	c.33C>T	c.(31-33)ccC>ccT	p.P11P	TRIT1_ENST00000541099.1_5'Flank|TRIT1_ENST00000545233.1_5'Flank|TRIT1_ENST00000491865.1_5'UTR|Y_RNA_ENST00000365352.1_RNA|TRIT1_ENST00000372818.1_Silent_p.P11P|TRIT1_ENST00000537440.1_5'Flank|TRIT1_ENST00000537223.1_5'Flank|TRIT1_ENST00000544981.1_Silent_p.P11P|TRIT1_ENST00000441669.2_Silent_p.P11P	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	11					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACTGCCCACGGGAACTGCTC	0.662													A|||	2547	0.508586	0.6157	0.4107	5008	,	,		13891	0.5933		0.3946	False		,,,				2504	0.4632				p.P11P		Atlas-SNP	.											TRIT1,NS,carcinoma,0,2	TRIT1	40	2	0			c.C33T						PASS	.	A		2498,1908		718,1062,423	22	27	26		33	-1	0	1	dbSNP_108	26	3379,5219		654,2071,1574	no	coding-synonymous	TRIT1	NM_017646.4		1372,3133,1997	AA,AG,GG		39.2998,43.3046,45.1938		11/468	40349131	5877,7127	2203	4299	6502	SO:0001819	synonymous_variant	54802	exon1			GCCCACGGGAACT	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.33C>T	1.37:g.40349131G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	99	52	0.525253	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	CCDS30681.1																																																																																			G|0.541;A|0.459	0.459	strong		0.662	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		A	40349131	G	A	40349131	2	1	22	1	0	0	0	0	0	0	0	1	16557	1103	39	1		1	TRIT1	1	40349131	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113057	40349131	208901490	304	5412										
CAP1	5538	hgsc.bcm.edu	37	chr1	40535945	40535945	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagggcaaaattaactccAttacagtaggtgagtctttg	9	7	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40535945A>G	ENST00000433473.3	-	0	2740				CAP1_ENST00000372802.1_Missense_Mutation_p.I369V|CAP1_ENST00000340450.3_Missense_Mutation_p.I369V|CAP1_ENST00000372797.3_Missense_Mutation_p.I370V|CAP1_ENST00000372805.3_Missense_Mutation_p.I370V|CAP1_ENST00000372798.1_Missense_Mutation_p.I369V|CAP1_ENST00000372792.2_Missense_Mutation_p.I370V|CAP1_ENST00000479759.1_3'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTAACTCCATTACAGTAGG	0.458																																					p.I370V		Atlas-SNP	.											.	CAP1	38	.	0			c.A1108G						PASS	.						81	77	78					1																	40535945		2020	4170	6190	SO:0001628	intergenic_variant	10487	exon10			AACTCCATTACAG	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535945A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	154	82	0.532468	NM_006367	B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	CCDS447.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066402	0.55539	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.08896	3.05;3.04;3.05;3.04;3.04;3.05	5.34	5.34	0.76211	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.48986	1.54	0.80722	D	1	B;B	0.33807	0.061;0.426	B;B	0.36534	0.149;0.227	T	0.03829	-1.1000	10	0.46703	T	0.11	-17.1934	14.503	0.67734	1.0:0.0:0.0:0.0	.	317;370	E7ENY9;Q01518	.;CAP1_HUMAN	V	370;369;370;347;369;369;370	ENSP00000361883:I370V;ENSP00000361888:I369V;ENSP00000361878:I370V;ENSP00000361884:I369V;ENSP00000344832:I369V;ENSP00000361891:I370V	ENSP00000344832:I369V	I	+	1	0	CAP1	40308532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.996000	0.58369	0.528000	0.53228	ATT	.	.	none		0.458	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		G	40535945	A	G	40535945	1	3	22	0	1	0	0	0	0	0	0	0	2619	217	8	2		2	CAP1	1	40535945	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	186814	40535945	208714676	305	5413										
ZNF643	65243	hgsc.bcm.edu	37	chr1	40928145	40928145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttacagaatgatatttcGtgggaagaactacattgtgg	11	6	0	3	rs61740805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40928145G>A	ENST00000411995.2	+	6	864	c.489G>A	c.(487-489)tcG>tcA	p.S163S	ZFP69B_ENST00000361584.3_Silent_p.S61S|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	163					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)										ATGATATTTCGTGGGAAGAAC	0.338													G|||	173	0.0345447	0.0635	0.0303	5008	,	,		19910	0.0		0.0557	False		,,,				2504	0.0123				p.S163S		Atlas-SNP	.											ZNF643_ENST00000411995,NS,carcinoma,+1,4	.	.	4	0			c.G489A						PASS	.	G		256,4150		10,236,1957	121	133	129		489	-6.8	0	1	dbSNP_129	129	472,8128		14,444,3842	no	coding-synonymous	ZNF643	NM_023070.2		24,680,5799	AA,AG,GG		5.4884,5.8103,5.5974		163/535	40928145	728,12278	2203	4300	6503	SO:0001819	synonymous_variant	65243	exon5			TATTTCGTGGGAA	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.489G>A	1.37:g.40928145G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	117	57	0.487179	NM_023070	Q5QPL4	Silent	SNP	ENST00000411995.2	37	CCDS452.2																																																																																			G|0.950;A|0.050	0.050	strong		0.338	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		A	40928145	G	A	40928145	2	1	22	1	0	0	0	0	0	0	0	1	18056	1132	40	1		1	ZNF643	1	40928145	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	392200	40928145	208322476	306	5414										
ZNF642	339559	hgsc.bcm.edu	37	chr1	40960619	40960619	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtaaaatagaaaccattGagtcaactgcaaagagtacc	8	7	1	4	rs41301076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40960619G>A	ENST00000372706.1	+	6	1475	c.469G>A	c.(469-471)Gag>Aag	p.E157K	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.E157K			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGAAACCATTGAGTCAACTGC	0.328													G|||	236	0.0471246	0.1203	0.0331	5008	,	,		13274	0.0		0.0437	False		,,,				2504	0.0102				p.E157K		Atlas-SNP	.											.	.	.	.	0			c.G469A						PASS	.	G	LYS/GLU	429,3973	183.3+/-210.9	18,393,1790	53	56	55		469	0.8	0	1	dbSNP_127	55	385,8209	121.1+/-180.3	17,351,3929	yes	missense	ZNF642	NM_198494.2	56	35,744,5719	AA,AG,GG		4.4799,9.7456,6.2635	benign	157/527	40960619	814,12182	2201	4297	6498	SO:0001583	missense	339559	exon6			ACCATTGAGTCAA	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.469G>A	1.37:g.40960619G>A	ENSP00000361791:p.Glu157Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	116	60	0.517241	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	112	0.05128205128205128	67	0.13617886178861788	15	0.04143646408839779	0	0.0	30	0.0395778364116095	G	0.511	-0.866482	0.02590	0.097456	0.044799	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05258	3.47;3.47	4.31	0.762	0.18454	.	1.171190	0.06555	N	0.745795	T	0.00039	0.0001	N	0.21508	0.67	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47222	-0.9134	9	0.12766	T	0.61	0.6711	7.2687	0.26244	0.2769:0.0:0.7231:0.0	rs41301076	157	Q49AA0	ZN642_HUMAN	K	157	ENSP00000361791:E157K;ENSP00000361790:E157K	ENSP00000361790:E157K	E	+	1	0	ZNF642	40733206	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.310000	0.19356	0.137000	0.18759	0.467000	0.42956	GAG	G|0.946;A|0.054	0.054	strong		0.328	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		A	40960619	G	A	40960619	3	1	22	1	0	0	0	0	1	0	0	0	18055	1291	45	2	487	2	ZNF642	1	40960619	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32474	40960619	208290002	307	5415										
DEM1	64789	hgsc.bcm.edu	37	chr1	40980731	40980731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttccagtgtttggggaagGggagggtgtacttcttgttg	17	4	1	0	rs11208299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:40980731G>T	ENST00000372703.1	+	2	1589	c.515G>T	c.(514-516)gGg>gTg	p.G172V	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.G172V|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.G172V			Q9H790	EXO5_HUMAN	exonuclease 5	172			G -> V (polymorphism that does not affect exonuclease activity; dbSNP:rs11208299). {ECO:0000269|PubMed:15489334}.		DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										TTTGGGGAAGGGGAGGGTGTA	0.502													T|||	2715	0.542133	0.6997	0.536	5008	,	,		20246	0.5		0.3757	False		,,,				2504	0.5481				p.G172V		Atlas-SNP	.											.	.	.	.	0			c.G515T						PASS	.	T	VAL/GLY	2811,1595	493.4+/-362.7	897,1017,289	82	88	86		515	4	1	1	dbSNP_120	86	3196,5404	651.2+/-400.8	582,2032,1686	yes	missense	DEM1	NM_022774.1	109	1479,3049,1975	TT,TG,GG		37.1628,36.2006,46.1864	benign	172/374	40980731	6007,6999	2203	4300	6503	SO:0001583	missense	64789	exon3			GGGAAGGGGAGGG	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.515G>T	1.37:g.40980731G>T	ENSP00000361788:p.Gly172Val	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	143	142	0.993007	NM_022774	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	CCDS453.1	1122	0.5137362637362637	357	0.725609756097561	185	0.511049723756906	295	0.5157342657342657	285	0.3759894459102902	T	0.127	-1.118333	0.01785	0.637994	0.371628	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000418186;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.09	3.96	0.45880	.	0.692054	0.12336	N	0.477953	T	0.00012	0.0000	N	0.00025	-2.675	0.38200	P	0.059826999999999964	B	0.02656	0.0	B	0.01281	0.0	T	0.41431	-0.9509	9	0.02654	T	1	-5.5314	5.3966	0.16273	0.0:0.0896:0.1772:0.7333	rs11208299;rs17845666;rs17858602;rs52798759;rs60314009;rs11208299	172	Q9H790	EXO5_HUMAN	V	172	ENSP00000351328:G172V;ENSP00000361788:G172V;ENSP00000398437:G172V;ENSP00000296380:G172V;ENSP00000391240:G172V;ENSP00000409715:G172V;ENSP00000392115:G172V	ENSP00000296380:G172V	G	+	2	0	DEM1	40753318	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.213000	0.42844	0.504000	0.28082	-0.264000	0.10439	GGG	G|0.508;T|0.492	0.492	strong		0.502	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		T	40980731	G	T	40980731	3	4	22	1	0	0	0	0	1	0	0	0	4425	1232	43	4	517	4	DEM1	1	40980731	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20112	40980731	208269890	308	5416										
ZNF684	127396	hgsc.bcm.edu	37	chr1	41006341	41006341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctgagagaaccctgtaTtgggatgtgatgttggagaa	15	4	0	4	rs74575870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:41006341T>C	ENST00000372699.3	+	3	350	c.99T>C	c.(97-99)taT>taC	p.Y33Y	ZNF684_ENST00000372696.3_Silent_p.Y33Y|ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372697.3_Silent_p.Y33Y	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)			GAACCCTGTATTGGGATGTGA	0.433													T|||	176	0.0351438	0.1278	0.0086	5008	,	,		18203	0.0		0.001	False		,,,				2504	0.0				p.Y33Y		Atlas-SNP	.											.	ZNF684	37	.	0			c.T99C						PASS	.	T		384,4022	194.3+/-219.2	13,358,1832	198	172	181		99	2.7	1	1	dbSNP_132	181	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ZNF684	NM_152373.3		13,365,6125	CC,CT,TT		0.0814,8.7154,3.0063		33/379	41006341	391,12615	2203	4300	6503	SO:0001819	synonymous_variant	127396	exon3			CCTGTATTGGGAT		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.99T>C	1.37:g.41006341T>C		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	311	133	0.427653	NM_152373	Q2NKY4	Silent	SNP	ENST00000372699.3	37	CCDS454.1																																																																																			T|0.973;C|0.027	0.027	strong		0.433	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		C	41006341	T	C	41006341	2	2	22	1	0	0	0	0	0	0	0	1	18088	1500	52	2		2	ZNF684	1	41006341	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25610	41006341	208244280	309	5417										
ZNF684	127396	hgsc.bcm.edu	37	chr1	41012847	41012847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaccttcaggtatagttcAtccctttataaacattccag	4	10	2	0	rs41268081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:41012847A>G	ENST00000372699.3	+	5	1103	c.852A>G	c.(850-852)tcA>tcG	p.S284S	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	284					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)			GGTATAGTTCATCCCTTTATA	0.393													A|||	277	0.0553115	0.1498	0.0346	5008	,	,		21003	0.0		0.0447	False		,,,				2504	0.0102				p.S284S		Atlas-SNP	.											.	ZNF684	37	.	0			c.A852G						PASS	.	A		529,3877	242.5+/-252.5	33,463,1707	81	86	84		852	-2.3	1	1	dbSNP_127	84	391,8209	126.3+/-184.8	17,357,3926	no	coding-synonymous	ZNF684	NM_152373.3		50,820,5633	GG,GA,AA		4.5465,12.0064,7.0737		284/379	41012847	920,12086	2203	4300	6503	SO:0001819	synonymous_variant	127396	exon5			TAGTTCATCCCTT		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.852A>G	1.37:g.41012847A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	131	54	0.412214	NM_152373	Q2NKY4	Silent	SNP	ENST00000372699.3	37	CCDS454.1																																																																																			A|0.934;G|0.066	0.066	strong		0.393	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		G	41012847	A	G	41012847	2	3	22	1	0	0	0	0	0	0	0	1	18088	204	8	2		2	ZNF684	1	41012847	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6506	41012847	208237774	310	5418										
GUCA2B	2981	hgsc.bcm.edu	37	chr1	42619139	42619139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgatgggctgcagggctgcAtcagggctcctgccaggagt	17	11	1	0	rs1047047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:42619139A>G	ENST00000372581.1	+	1	48	c.18A>G	c.(16-18)gcA>gcG	p.A6A		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	6					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGGCTGCATCAGGGCTCC	0.637													G|||	1580	0.315495	0.4614	0.2896	5008	,	,		16480	0.4038		0.165	False		,,,				2504	0.2004				p.A6A		Atlas-SNP	.											.	GUCA2B	9	.	0			c.A18G						PASS	.	G		1701,2705	646.7+/-398.4	320,1061,822	67	56	60		18	2.3	0	1	dbSNP_86	60	1298,7302	754.4+/-407.5	81,1136,3083	no	coding-synonymous	GUCA2B	NM_007102.2		401,2197,3905	GG,GA,AA		15.093,38.6064,23.0586		6/113	42619139	2999,10007	2203	4300	6503	SO:0001819	synonymous_variant	2981	exon1			GGCTGCATCAGGG	BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"Endogenous ligands"	4683	protein-coding gene	gene with protein product	"prepro-uroguanylin"	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.18A>G	1.37:g.42619139A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	62	28	0.451613	NM_007102	Q52LV0	Silent	SNP	ENST00000372581.1	37	CCDS464.1																																																																																			A|0.756;G|0.244	0.244	strong		0.637	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		G	42619139	A	G	42619139	2	3	22	1	0	0	0	0	0	0	0	1	6892	204	8	2		2	GUCA2B	1	42619139	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1606292	42619139	206631482	311	5419										
RIMKLA	284716	hgsc.bcm.edu	37	chr1	42880516	42880516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagtgggtctacctctagTgaaagtgagcctgaactggg	13	8	2	3	rs1055055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:42880516T>C	ENST00000431473.3	+	5	1176	c.1047T>C	c.(1045-1047)agT>agC	p.S349S		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	349					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.S308S(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTACCTCTAGTGAAAGTGAGC	0.552													C|||	2451	0.489417	0.5197	0.5173	5008	,	,		20089	0.3433		0.6441	False		,,,				2504	0.4202				p.S349S		Atlas-SNP	.											RIMKLA,NS,carcinoma,0,1	RIMKLA	32	1	1	Substitution - coding silent(1)	stomach(1)	c.T1047C						scavenged	.	C		2364,2042	566.4+/-381.9	644,1076,483	73	72	73		1047	-3.2	0.9	1	dbSNP_86	73	5474,3126	476.6+/-369.4	1759,1956,585	yes	coding-synonymous	RIMKLA	NM_173642.3		2403,3032,1068	CC,CT,TT		36.3488,46.3459,39.7355		349/392	42880516	7838,5168	2203	4300	6503	SO:0001819	synonymous_variant	284716	exon5			CTCTAGTGAAAGT	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1047T>C	1.37:g.42880516T>C		Somatic	86	3	0.0348837		WXS	Illumina HiSeq	Phase_I	77	77	1	NM_173642	Q5VUS5	Silent	SNP	ENST00000431473.3	37	CCDS466.2																																																																																			T|0.444;C|0.556	0.556	strong		0.552	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		C	42880516	T	C	42880516	2	2	22	1	0	0	0	0	0	0	0	1	13365	1693	59	2		2	RIMKLA	1	42880516	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	261377	42880516	206370105	312	5420										
PPCS	79717	hgsc.bcm.edu	37	chr1	42925501	42925501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggaaaccaagttattgctAtcagaggaagaaatagaaaa	9	5	1	3	rs142078638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:42925501A>G	ENST00000372561.3	+	3	847	c.840A>G	c.(838-840)ctA>ctG	p.L280L	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000455780.1_Silent_p.L107L|PPCS_ENST00000372562.1_Silent_p.L107L|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	280					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTATTGCTATCAGAGGAAG	0.388													A|||	6	0.00119808	0.0015	0.0	5008	,	,		17283	0.004		0.0	False		,,,				2504	0.0				p.L280L		Atlas-SNP	.											.	PPCS	30	.	0			c.A840G						PASS	.	A	,	7,3669		0,7,1831	102	98	99		321,840	-10.5	0.6	1	dbSNP_134	99	0,8184		0,0,4092	no	coding-synonymous,coding-synonymous	PPCS	NM_001077447.1,NM_024664.2	,	0,7,5923	GG,GA,AA		0.0,0.1904,0.059	,	107/139,280/312	42925501	7,11853	1838	4092	5930	SO:0001819	synonymous_variant	79717	exon3			ATTGCTATCAGAG	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.840A>G	1.37:g.42925501A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	123	56	0.455285	NM_024664	Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	CCDS41311.1																																																																																			A|0.998;G|0.002	0.002	strong		0.388	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		G	42925501	A	G	42925501	2	3	22	1	0	0	0	0	0	0	0	1	12305	436	16	2		2	PPCS	1	42925501	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44985	42925501	206325120	313	5421										
SLC2A1	6513	hgsc.bcm.edu	37	chr1	43396414	43396414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaagcctgtggtcaggccGcagtacacaccgatgatgaa	12	11	1	2	rs11537641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43396414G>A	ENST00000426263.3	-	4	577	c.399C>T	c.(397-399)tgC>tgT	p.C133C	SLC2A1_ENST00000372500.3_Silent_p.C133C|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	133					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGGTCAGGCCGCAGTACACAC	0.622													G|||	708	0.141374	0.0802	0.2133	5008	,	,		21408	0.1022		0.1909	False		,,,				2504	0.1626				p.C133C		Atlas-SNP	.											.	SLC2A1	36	.	0			c.C399T	GRCh37	CM044065	SLC2A1	M	rs11537641	PASS	.	G		423,3983	204.1+/-226.4	17,389,1797	66	59	61		399	-6.7	0.8	1	dbSNP_120	61	1709,6891	311.3+/-310.3	167,1375,2758	no	coding-synonymous	SLC2A1	NM_006516.2		184,1764,4555	AA,AG,GG		19.8721,9.6005,16.3924		133/493	43396414	2132,10874	2203	4300	6503	SO:0001819	synonymous_variant	6513	exon4			CAGGCCGCAGTAC	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.399C>T	1.37:g.43396414G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	56	30	0.535714	NM_006516	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	CCDS477.1																																																																																			G|0.840;A|0.160	0.160	strong		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		A	43396414	G	A	43396414	2	1	22	1	0	0	0	0	0	0	0	1	14538	1079	38	1		1	SLC2A1	1	43396414	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	470913	43396414	205854207	314	5422										
FAM183A	440585	hgsc.bcm.edu	37	chr1	43621973	43621973	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggggcttaggagatgatCaccacaagtagcatcccagc	12	11	1	2	rs59274667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43621973C>T	ENST00000335282.4	+	4	394	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	FAM183A_ENST00000410048.1_Missense_Mutation_p.H104Y|FAM183A_ENST00000409337.1_3'UTR	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	132										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						AGGAGATGATCACCACAAGTA	0.473													C|||	26	0.00519169	0.0197	0.0	5008	,	,		22333	0.0		0.0	False		,,,				2504	0.0				p.H132Y		Atlas-SNP	.											.	FAM183A	28	.	0			c.C394T						PASS	.	C	TYR/HIS	67,3987		1,65,1961	126	127	127		394	-0.6	0	1	dbSNP_129	127	0,8370		0,0,4185	yes	missense	FAM183A	NM_001101376.2	83	1,65,6146	TT,TC,CC		0.0,1.6527,0.5393	benign	132/135	43621973	67,12357	2027	4185	6212	SO:0001583	missense	440585	exon4			GATGATCACCACA	AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.394C>T	1.37:g.43621973C>T	ENSP00000334415:p.His132Tyr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	120	60	0.5	NM_001101376	B7ZBL8	Missense_Mutation	SNP	ENST00000335282.4	37	CCDS44126.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	10.05	1.243842	0.22796	0.016527	0.0	ENSG00000186973	ENST00000409706;ENST00000410048;ENST00000409337;ENST00000410025;ENST00000335282	.	.	.	4.08	-0.601	0.11638	.	1.498380	0.03915	N	0.282630	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	9	0.49607	T	0.09	.	3.0707	0.06230	0.2209:0.3721:0.0:0.4069	rs59274667;rs61738384	132	A6NL82	F183A_HUMAN	Y	132;104;42;80;132	.	ENSP00000334415:H132Y	H	+	1	0	FAM183A	43394560	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.229000	0.09098	-0.092000	0.12417	-0.768000	0.03414	CAC	C|0.996;T|0.004	0.004	strong		0.473	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		T	43621973	C	T	43621973	3	4	22	1	0	0	0	0	1	0	0	0	5510	826	29	2	408	2	FAM183A	1	43621973	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	225559	43621973	205628648	315	5423										
EBNA1BP2	10969	hgsc.bcm.edu	37	chr1	43630156	43630156	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctcttgttcgttttccAggtctcttctacagaaaaag	6	10	4	1	rs11559311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43630156A>C	ENST00000236051.2	-	9	1020	c.879T>G	c.(877-879)ccT>ccG	p.P293P	EBNA1BP2_ENST00000431635.2_Silent_p.P348P	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	293					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCGTTTTCCAGGTCTCTTCT	0.443													A|||	410	0.081869	0.2405	0.0605	5008	,	,		19601	0.001		0.0368	False		,,,				2504	0.0123				p.P348P		Atlas-SNP	.											.	EBNA1BP2	37	.	0			c.T1044G						PASS	.	A	,	913,3493	351.1+/-311.1	102,709,1392	176	155	162		1044,879	-0.3	1	1	dbSNP_120	162	356,8244	119.7+/-179.0	6,344,3950	no	coding-synonymous,coding-synonymous	EBNA1BP2	NM_001159936.1,NM_006824.2	,	108,1053,5342	CC,CA,AA		4.1395,20.7217,9.757	,	348/362,293/307	43630156	1269,11737	2203	4300	6503	SO:0001819	synonymous_variant	10969	exon10			TTTTCCAGGTCTC	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.879T>G	1.37:g.43630156A>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	158	80	0.506329	NM_001159936	Q96A66	Silent	SNP	ENST00000236051.2	37	CCDS478.1																																																																																			A|0.912;C|0.088	0.088	strong		0.443	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			C	43630156	A	C	43630156	2	2	22	1	0	0	0	0	0	0	0	1	4885	175	7	5		5	EBNA1BP2	1	43630156	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8183	43630156	205620465	316	5424										
WDR65	149465	hgsc.bcm.edu	37	chr1	43638436	43638436	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggagatcatgtcagccgtGgtagctcagacgctgcatgt	14	10	3	2	rs6695238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43638436G>T	ENST00000372492.4	+	2	336	c.12G>T	c.(10-12)gtG>gtT	p.V4V	EBNA1BP2_ENST00000431635.2_5'Flank|EBNA1BP2_ENST00000236051.2_5'Flank|WDR65_ENST00000528956.1_Silent_p.V4V|EBNA1BP2_ENST00000472982.1_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		4										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCAGCCGTGGTAGCTCAGA	0.547													G|||	341	0.0680911	0.1899	0.0576	5008	,	,		10442	0.001		0.0368	False		,,,				2504	0.0123				p.V4V		Atlas-SNP	.											.	WDR65	76	.	0			c.G12T						PASS	.	G	,,	714,3692	295.6+/-283.7	65,584,1554	116	104	108		12,12,12	2.1	1	1	dbSNP_116	108	354,8246	119.5+/-178.9	6,342,3952	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	71,926,5506	TT,TG,GG		4.1163,16.2052,8.2116	,,	4/699,4/699,4/699	43638436	1068,11938	2203	4300	6503	SO:0001819	synonymous_variant	149465	exon2			AGCCGTGGTAGCT																												ENST00000372492.4:c.12G>T	1.37:g.43638436G>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	129	66	0.511628	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																				G|0.920;T|0.080	0.080	strong		0.547	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			T	43638436	G	T	43638436	2	4	22	1	0	0	0	0	0	0	0	1	17313	1335	47	4		4	WDR65	1	43638436	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8280	43638436	205612185	317	5425										
WDR65	149465	hgsc.bcm.edu	37	chr1	43649393	43649393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccccaaaactatctagcTcacacctgggtggctgatga	9	12	2	2	rs663336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43649393T>C	ENST00000372492.4	+	4	930	c.606T>C	c.(604-606)gcT>gcC	p.A202A	WDR65_ENST00000528956.1_Silent_p.A202A	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		202										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTATCTAGCTCACACCTGGG	0.493													C|||	1322	0.263978	0.3949	0.2637	5008	,	,		18592	0.3185		0.0666	False		,,,				2504	0.2342				p.A202A		Atlas-SNP	.											.	WDR65	76	.	0			c.T606C						PASS	.	C	,,	1611,2795	663.1+/-401.2	290,1031,882	110	107	108		606,606,606	0.5	1	1	dbSNP_83	108	662,7938	789.2+/-407.6	32,598,3670	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	322,1629,4552	CC,CT,TT		7.6977,36.5638,17.4765	,,	202/699,202/699,202/699	43649393	2273,10733	2203	4300	6503	SO:0001819	synonymous_variant	149465	exon4			TCTAGCTCACACC																												ENST00000372492.4:c.606T>C	1.37:g.43649393T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	162	72	0.444444	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																				T|0.801;C|0.199	0.199	strong		0.493	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			C	43649393	T	C	43649393	2	2	22	1	0	0	0	0	0	0	0	1	17313	1538	54	3		3	WDR65	1	43649393	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10957	43649393	205601228	318	5426										
HYI	81888	hgsc.bcm.edu	37	chr1	43917098	43917098	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctcgaggctgatactcaCagcccacgaagcctttgtag	9	14	1	1	rs79439514	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:43917098C>G	ENST00000372425.4	-	7	938	c.743G>C	c.(742-744)tGt>tCt	p.C248S	SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372432.1_Splice_Site|HYI_ENST00000583037.1_Missense_Mutation_p.C175S|HYI_ENST00000372426.1_Missense_Mutation_p.C200S|HYI_ENST00000486909.1_Missense_Mutation_p.C248S|HYI-AS1_ENST00000444386.1_RNA|SZT2-AS1_ENST00000396885.2_RNA|HYI_ENST00000372434.1_Missense_Mutation_p.C273S|SZT2_ENST00000562955.1_3'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	248							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGATACTCACAGCCCACGAA	0.627													C|||	146	0.0291534	0.1051	0.0086	5008	,	,		18840	0.0		0.001	False		,,,				2504	0.0				p.C248S		Atlas-SNP	.											.	HYI	23	.	0			c.G743C						PASS	.	C	SER/CYS,,	377,4029	189.5+/-215.6	21,335,1847	61	66	64		743,,	5.5	1	1	dbSNP_131	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,utr-3,splice-5	SZT2,HYI	NM_001190880.2,NM_015284.3,NM_031207.5	112,,	21,337,6145	GG,GC,CC		0.0233,8.5565,2.914	probably-damaging,,	248/278,,	43917098	379,12627	2203	4300	6503	SO:0001583	missense	81888	exon7			TACTCACAGCCCA		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.743G>C	1.37:g.43917098C>G	ENSP00000361502:p.Cys248Ser	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_001190880	D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	56|56	0.02564102564102564|0.02564102564102564	54|54	0.10975609756097561|0.10975609756097561	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	20.9|20.9	4.070255|4.070255	0.76301|0.76301	0.085565|0.085565	2.33E-4|2.33E-4	ENSG00000178922|ENSG00000178922	ENST00000372425;ENST00000372434;ENST00000372430;ENST00000372426;ENST00000486909|ENST00000470662	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Xylose isomerase-like, TIM barrel domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.17492|0.17492	0.0420|0.0420	M|M	0.93638|0.93638	3.44|3.44	0.09310|0.09310	P|P	0.9999999792184|0.9999999792184	D|.	0.54601|.	0.967|.	P|.	0.56865|.	0.808|.	T|T	0.69239|0.69239	-0.5197|-0.5197	8|4	0.87932|.	D|.	0|.	.|.	19.8124|19.8124	0.96553|0.96553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	248|.	Q5T013|.	HYI_HUMAN|.	S|L	248;200;175;200;248|157	ENSP00000361502:C248S;ENSP00000361503:C200S;ENSP00000428399:C248S|.	ENSP00000361502:C248S|.	C|V	-|-	2|1	0|0	HYI|HYI	43689685|43689685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.785000|0.785000	0.44390|0.44390	7.729000|7.729000	0.84864|0.84864	2.764000|2.764000	0.94973|0.94973	0.563000|0.563000	0.77884|0.77884	TGT|GTG	C|0.974;G|0.026	0.026	strong		0.627	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		G	43917098	C	G	43917098	3	3	22	1	0	0	0	0	1	0	0	0	7468	492	17	4	98	4	HYI	1	43917098	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	267705	43917098	205333523	319	5427										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44019305	44019305	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtcagctcccagcgcttCgaggtgcgtctgtggtggga	15	10	2	0	rs6684279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44019305C>T	ENST00000359947.4	+	4	574	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PTPRF_ENST00000438120.1_Silent_p.F78F|PTPRF_ENST00000372414.3_Silent_p.F78F|PTPRF_ENST00000372413.3_Silent_p.F78F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	78	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCAGCGCTTCGAGGTGCGTC	0.597													C|||	165	0.0329473	0.118	0.0072	5008	,	,		21711	0.0		0.004	False		,,,				2504	0.0				p.F78F		Atlas-SNP	.											.	PTPRF	172	.	0			c.C234T						PASS	.	C	,	440,3966	210.2+/-230.7	23,394,1786	126	121	122		234,234	-9.8	0.6	1	dbSNP_116	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	23,395,6085	TT,TC,CC		0.0116,9.9864,3.3907	,	78/1908,78/1899	44019305	441,12565	2203	4300	6503	SO:0001819	synonymous_variant	5792	exon4			GCGCTTCGAGGTG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.234C>T	1.37:g.44019305C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2																																																																																			C|0.964;T|0.036	0.036	strong		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44019305	C	T	44019305	2	4	22	1	0	0	0	0	0	0	0	1	12801	883	31	1		1	PTPRF	1	44019305	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102207	44019305	205231316	320	5428										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44058265	44058265	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accattgaggcccgcacagcCcagtccagtaagtgtctccc	9	16	1	1	rs3828151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44058265C>A	ENST00000359947.4	+	11	2146	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A	PTPRF_ENST00000438120.1_Silent_p.A602A|PTPRF_ENST00000372414.3_Silent_p.A602A|PTPRF_ENST00000422171.2_Silent_p.A61A|PTPRF_ENST00000372413.3_Silent_p.A602A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	602	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCGCACAGCCCAGTCCAGTA	0.612													A|||	2236	0.446486	0.4561	0.317	5008	,	,		16880	0.5585		0.3966	False		,,,				2504	0.4611				p.A602A		Atlas-SNP	.											.	PTPRF	172	.	0			c.C1806A						PASS	.	A	,	2013,2393	614.4+/-392.4	468,1077,658	76	64	68		1806,1806	1.9	1	1	dbSNP_107	68	3472,5128	635.2+/-398.9	704,2064,1532	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	1172,3141,2190	AA,AC,CC		40.3721,45.6877,42.1728	,	602/1908,602/1899	44058265	5485,7521	2203	4300	6503	SO:0001819	synonymous_variant	5792	exon11			CACAGCCCAGTCC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1806C>A	1.37:g.44058265C>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	26	26	1	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	913|913	0.41804029304029305|0.41804029304029305	197|197	0.40040650406504064|0.40040650406504064	122|122	0.3370165745856354|0.3370165745856354	290|290	0.506993006993007|0.506993006993007	304|304	0.40105540897097625|0.40105540897097625	A|A	9.385|9.385	1.073889|1.073889	0.20147|0.20147	0.456877|0.456877	0.403721|0.403721	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	4.49|4.49	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49283|0.49283	-0.8956|-0.8956	3|3	.|.	.|.	.|.	.|.	8.3188|8.3188	0.32117|0.32117	0.5905:0.3314:0.0781:0.0|0.5905:0.3314:0.0781:0.0	rs3828151;rs17849099;rs3828151|rs3828151;rs17849099;rs3828151	.|.	.|.	.|.	H|T	259|270;127	.|.	.|.	P|P	+|+	2|1	0|0	PTPRF|PTPRF	43830852|43830852	0.005000|0.005000	0.15991|0.15991	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	-1.256000|-1.256000	0.02869|0.02869	0.311000|0.311000	0.23014|0.23014	-0.363000|-0.363000	0.07495|0.07495	CCC|CCA	C|0.581;A|0.419	0.419	strong		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44058265	C	A	44058265	2	1	22	1	0	0	0	0	0	0	0	1	12801	610	22	4		4	PTPRF	1	44058265	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38960	44058265	205192356	321	5429										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44083519	44083519	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatgggtgatttctggagGatggtgtgggaacagcgcac	16	7	1	1	rs641351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44083519G>A	ENST00000359947.4	+	25	4648	c.4308G>A	c.(4306-4308)agG>agA	p.R1436R	PTPRF_ENST00000422171.2_Silent_p.R795R|PTPRF_ENST00000372414.3_Silent_p.R1436R|PTPRF_ENST00000372413.3_Silent_p.R1427R|PTPRF_ENST00000438120.1_Silent_p.R1427R|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1436	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTCTGGAGGATGGTGTGGG	0.617													A|||	3692	0.73722	0.9455	0.5764	5008	,	,		19953	0.7649		0.7157	False		,,,				2504	0.5634				p.R1436R		Atlas-SNP	.											.	PTPRF	172	.	0			c.G4308A						PASS	.	A	,	4040,366	186.7+/-213.5	1857,326,20	54	53	53		4308,4281	2.3	1	1	dbSNP_83	53	6431,2169	370.0+/-335.7	2440,1551,309	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	4297,1877,329	AA,AG,GG		25.2209,8.3069,19.491	,	1436/1908,1427/1899	44083519	10471,2535	2203	4300	6503	SO:0001819	synonymous_variant	5792	exon25			CTGGAGGATGGTG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4308G>A	1.37:g.44083519G>A		Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	259	258	0.996139	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	1671|1671	0.7651098901098901|0.7651098901098901	459|459	0.9329268292682927|0.9329268292682927	238|238	0.6574585635359116|0.6574585635359116	425|425	0.743006993006993|0.743006993006993	549|549	0.7242744063324539|0.7242744063324539	A|A	10.11|10.11	1.260861|1.260861	0.23051|0.23051	0.916931|0.916931	0.747791|0.747791	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.58|5.58	2.32|2.32	0.28847|0.28847	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16571|0.16571	-1.0398|-1.0398	3|3	.|.	.|.	.|.	.|.	9.1101|9.1101	0.36723|0.36723	0.1843:0.2027:0.613:0.0|0.1843:0.2027:0.613:0.0	rs641351;rs1065774;rs17380724;rs57918403|rs641351;rs1065774;rs17380724;rs57918403	.|.	.|.	.|.	N|E	820;861|1082	.|.	.|.	D|G	+|+	1|2	0|0	PTPRF|PTPRF	43856106|43856106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	1.439000|1.439000	0.35013|0.35013	0.384000|0.384000	0.24942|0.24942	-0.834000|-0.834000	0.03071|0.03071	GAT|GGA	A|0.793;G|0.207;T|0.000	0.793	strong		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44083519	G	A	44083519	2	1	22	1	0	0	0	0	0	0	0	1	12801	1165	41	2		2	PTPRF	1	44083519	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25254	44083519	205167102	322	5430										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44084739	44084739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggctccagtgagaagcgCgagctgcgtcagtttcagtt	14	9	2	1	rs1143701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44084739C>T	ENST00000359947.4	+	27	4852	c.4512C>T	c.(4510-4512)cgC>cgT	p.R1504R	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.R1495R|PTPRF_ENST00000372414.3_Silent_p.R1504R|PTPRF_ENST00000422171.2_Silent_p.R863R|PTPRF_ENST00000372413.3_Silent_p.R1495R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1504	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGAGAAGCGCGAGCTGCGTC	0.582													T|||	3693	0.73742	0.9455	0.5764	5008	,	,		16146	0.7649		0.7167	False		,,,				2504	0.5634				p.R1504R		Atlas-SNP	.											.	PTPRF	172	.	0			c.C4512T						PASS	.	T	,	4040,366	186.7+/-213.5	1857,326,20	75	69	71		4512,4485	0.9	1	1	dbSNP_86	71	6431,2169	370.9+/-336.0	2440,1551,309	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	4297,1877,329	TT,TC,CC		25.2209,8.3069,19.491	,	1504/1908,1495/1899	44084739	10471,2535	2203	4300	6503	SO:0001819	synonymous_variant	5792	exon27			GAAGCGCGAGCTG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4512C>T	1.37:g.44084739C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	120	116	0.966667	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	1672|1672	0.7655677655677655|0.7655677655677655	459|459	0.9329268292682927|0.9329268292682927	238|238	0.6574585635359116|0.6574585635359116	425|425	0.743006993006993|0.743006993006993	550|550	0.7255936675461742|0.7255936675461742	T|T	7.282|7.282	0.609324|0.609324	0.14066|0.14066	0.916931|0.916931	0.747791|0.747791	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.34|5.34	0.888|0.888	0.19206|0.19206	.|.	.|0.000000	.|0.33023	.|N	.|0.005372	T|.	0.00012|.	0.0000|.	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40136|.	-0.9579|.	3|.	.|0.02654	.|T	.|1	.|.	3.3878|3.3878	0.07278|0.07278	0.0853:0.1957:0.3769:0.3421|0.0853:0.1957:0.3769:0.3421	rs1143701;rs1274775;rs17849117|rs1143701;rs1274775;rs17849117	.|.	.|.	.|.	V|X	1150|888;929	.|.	.|ENSP00000361484:R838X	A|R	+|+	2|1	0|2	PTPRF|PTPRF	43857326|43857326	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.942000|0.942000	0.58702|0.58702	0.863000|0.863000	0.27913|0.27913	-0.265000|-0.265000	0.09352|0.09352	-1.214000|-1.214000	0.01621|0.01621	GCG|CGA	A|0.000;C|0.209;T|0.790	0.790	strong		0.582	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44084739	C	T	44084739	2	4	22	1	0	0	0	0	0	0	0	1	12801	755	27	1		1	PTPRF	1	44084739	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1220	44084739	205165882	323	5431										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44086831	44086831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctggagcgcatgcgctaCgagggcgtggtcgacatgtt	16	10	0	0	rs1143702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44086831C>T	ENST00000359947.4	+	33	5923	c.5583C>T	c.(5581-5583)taC>taT	p.Y1861Y	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.Y1852Y|PTPRF_ENST00000372414.3_Silent_p.Y1861Y|PTPRF_ENST00000422171.2_Silent_p.Y1220Y|PTPRF_ENST00000372413.3_Silent_p.Y1852Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1861	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCGCTACGAGGGCGTGG	0.617													c|||	2857	0.570487	0.5507	0.5014	5008	,	,		22363	0.6855		0.6441	False		,,,				2504	0.4519				p.Y1861Y		Atlas-SNP	.											.	PTPRF	172	.	0			c.C5583T						PASS	.	T	,	2561,1845	634.9+/-396.3	749,1063,391	85	67	73		5583,5556	-9.5	0.2	1	dbSNP_86	73	5727,2873	672.1+/-402.9	1938,1851,511	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	2687,2914,902	TT,TC,CC		33.407,41.8747,36.2756	,	1861/1908,1852/1899	44086831	8288,4718	2203	4300	6503	SO:0001819	synonymous_variant	5792	exon33			GCGCTACGAGGGC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5583C>T	1.37:g.44086831C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	267	267	1	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	1276|1276	0.5842490842490843|0.5842490842490843	270|270	0.5487804878048781|0.5487804878048781	199|199	0.5497237569060773|0.5497237569060773	357|357	0.6241258741258742|0.6241258741258742	450|450	0.5936675461741425|0.5936675461741425	c|c	7.649|7.649	0.682443|0.682443	0.14907|0.14907	0.581253|0.581253	0.66593|0.66593	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.76|4.76	-9.52|-9.52	0.00578|0.00578	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01202	.|-1.1420	.|3	.|.	.|.	.|.	.|.	15.3071|15.3071	0.74001|0.74001	0.0:0.3821:0.0:0.6179|0.0:0.3821:0.0:0.6179	rs1143702;rs7517450;rs17849120;rs1143702|rs1143702;rs7517450;rs17849120;rs1143702	.|.	.|.	.|.	X|M	1245;1286|1507	.|.	.|.	R|T	+|+	1|2	2|0	PTPRF|PTPRF	43859418|43859418	0.000000|0.000000	0.05858|0.05858	0.150000|0.150000	0.22450|0.22450	0.932000|0.932000	0.56968|0.56968	-2.838000|-2.838000	0.00739|0.00739	-2.452000|-2.452000	0.00542|0.00542	-2.203000|-2.203000	0.00303|0.00303	CGA|ACG	A|0.000;C|0.380;T|0.620	0.620	strong		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44086831	C	T	44086831	2	4	22	1	0	0	0	0	0	0	0	1	12801	547	19	1		1	PTPRF	1	44086831	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2092	44086831	205163790	324	5432										
IPO13	9670	hgsc.bcm.edu	37	chr1	44422367	44422367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctcaccttctggtacacActgcaggtgtgtctgtgtga	10	12	3	1	rs36061711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44422367A>G	ENST00000372343.3	+	4	1760	c.1098A>G	c.(1096-1098)acA>acG	p.T366T	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	366					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCTGGTACACACTGCAGGTGT	0.532													A|||	196	0.0391374	0.1415	0.013	5008	,	,		20746	0.0		0.0	False		,,,				2504	0.0				p.T366T		Atlas-SNP	.											.	IPO13	86	.	0			c.A1098G						PASS	.	A		497,3909	231.4+/-245.2	31,435,1737	125	116	119		1098	-11.5	0.2	1	dbSNP_126	119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IPO13	NM_014652.3		31,437,6035	GG,GA,AA		0.0233,11.2801,3.8367		366/964	44422367	499,12507	2203	4300	6503	SO:0001819	synonymous_variant	9670	exon4			GTACACACTGCAG	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1098A>G	1.37:g.44422367A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	164	83	0.506098	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	CCDS503.1																																																																																			A|0.964;G|0.036	0.036	strong		0.532	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		G	44422367	A	G	44422367	2	3	22	1	0	0	0	0	0	0	0	1	7794	146	6	2		2	IPO13	1	44422367	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	335536	44422367	204828254	325	5433										
IPO13	9670	hgsc.bcm.edu	37	chr1	44424525	44424525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgatcatgaaggccctgaGcttcggaagctgccagtgcc	13	11	1	3	rs74073335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44424525G>A	ENST00000372343.3	+	11	2654	c.1992G>A	c.(1990-1992)gaG>gaA	p.E664E		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	664					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AAGGCCCTGAGCTTCGGAAGC	0.562													G|||	38	0.00758786	0.0287	0.0	5008	,	,		20073	0.0		0.0	False		,,,				2504	0.0				p.E664E		Atlas-SNP	.											.	IPO13	86	.	0			c.G1992A						PASS	.	G		124,4282	90.6+/-129.3	1,122,2080	84	78	80		1992	3.8	1	1	dbSNP_130	80	0,8600		0,0,4300	no	coding-synonymous	IPO13	NM_014652.3		1,122,6380	AA,AG,GG		0.0,2.8143,0.9534		664/964	44424525	124,12882	2203	4300	6503	SO:0001819	synonymous_variant	9670	exon11			CCCTGAGCTTCGG	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1992G>A	1.37:g.44424525G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	166	96	0.578313	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	CCDS503.1																																																																																			G|0.991;A|0.009	0.009	strong		0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		A	44424525	G	A	44424525	2	1	22	1	0	0	0	0	0	0	0	1	7794	962	34	2		2	IPO13	1	44424525	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2158	44424525	204826096	326	5434										
IPO13	9670	hgsc.bcm.edu	37	chr1	44433055	44433055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctgttcgccctgaacaaGcactgcttcagcctcctgag	8	15	1	2	rs34392712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44433055G>A	ENST00000372343.3	+	19	3344	c.2682G>A	c.(2680-2682)aaG>aaA	p.K894K	IPO13_ENST00000372339.3_Silent_p.K112K|DPH2_ENST00000412950.2_5'Flank|DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000255108.3_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	894					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTGAACAAGCACTGCTTCA	0.617													g|||	67	0.0133786	0.0499	0.0014	5008	,	,		18701	0.0		0.0	False		,,,				2504	0.0				p.K894K		Atlas-SNP	.											.	IPO13	86	.	0			c.G2682A						PASS	.			173,4233	110.4+/-148.6	3,167,2033	72	70	71		2682	-0.2	1	1	dbSNP_126	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IPO13	NM_014652.3		3,168,6332	AA,AG,GG		0.0116,3.9265,1.3378		894/964	44433055	174,12832	2203	4300	6503	SO:0001819	synonymous_variant	9670	exon19			GAACAAGCACTGC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2682G>A	1.37:g.44433055G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	117	59	0.504274	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	CCDS503.1																																																																																			G|0.989;A|0.011	0.011	strong		0.617	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		A	44433055	G	A	44433055	2	1	22	1	0	0	0	0	0	0	0	1	7794	962	34	2		2	IPO13	1	44433055	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8530	44433055	204817566	327	5435										
KLF17	128209	hgsc.bcm.edu	37	chr1	44596380	44596382	+	In_Frame_Del	DEL	CAA	CAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccctcagacccacaggcCaacaacaacaatggagagca					rs200059598|rs34057178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:44596380_44596382delCAA	ENST00000372299.3	+	3	1180_1182	c.1122_1124delCAA	c.(1120-1125)gccaac>gcc	p.N378del	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	378					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					ACCCACAGGCCAACAACAACAAT	0.493														1153	0.230232	0.0719	0.2723	5008	,	,		21631	0.2887		0.175	False		,,,				2504	0.411				p.374_375del		Pindel,Atlas-Indel	.											.	KLF17	92	.	0			c.1121_1123del						PASS	.			430,3836		27,376,1730						-0.7	0		dbSNP_126	87	1593,6661		149,1295,2683	no	coding	KLF17	NM_173484.3		176,1671,4413	A1A1,A1R,RR		19.2997,10.0797,16.1581				2023,10497				SO:0001651	inframe_deletion	128209	exon3			.	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1122_1124delCAA	1.37:g.44596389_44596391delCAA	ENSP00000361373:p.Asn378del	Somatic	109	.	.		WXS	Illumina HiSeq	Phase_I	97	37	0.381	NM_173484	Q86VQ7|Q8N805	In_Frame_Del	DEL	ENST00000372299.3	37	CCDS508.1																																																																																			CAA|0.811;-|0.189	0.189	strong		0.493	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		-	44596382	CAA	-	44596380	7	5	22	1	0	1	0	1	0	0	0	0	8345	581	21	0	1132	0	KLF17	1	44596380	In_Frame_Del	DEL	CAA	TCGA-G8-6324-01A-11D-2210-10	163325	44596380	204654241	328	5436										
KIF2C	11004	hgsc.bcm.edu	37	chr1	45218895	45218895	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcaagtccattccatccgAggcagctcttctgcaaaccc	8	15	2	0	rs3795713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:45218895A>T	ENST00000372224.4	+	6	644	c.531A>T	c.(529-531)cgA>cgT	p.R177R	KIF2C_ENST00000372217.1_Silent_p.R123R|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372222.3_Silent_p.R64R|KIF2C_ENST00000372218.4_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	177	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTCCATCCGAGGCAGCTCTT	0.532													a|||	1435	0.286542	0.4818	0.2781	5008	,	,		22360	0.2857		0.1392	False		,,,				2504	0.181				p.R177R		Atlas-SNP	.											KIF2C,NS,carcinoma,+2,1	KIF2C	68	1	0			c.A531T						scavenged	.	A		1963,2443	554.2+/-379.0	456,1051,696	171	148	156		531	1.6	0.9	1	dbSNP_107	156	1457,7143	277.9+/-293.1	130,1197,2973	no	coding-synonymous	KIF2C	NM_006845.3		586,2248,3669	TT,TA,AA		16.9419,44.5529,26.2956		177/726	45218895	3420,9586	2203	4300	6503	SO:0001819	synonymous_variant	11004	exon6			CATCCGAGGCAGC	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.531A>T	1.37:g.45218895A>T		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	118	55	0.466102	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	CCDS512.1																																																																																			A|0.741;T|0.259	0.259	strong		0.532	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		T	45218895	A	T	45218895	2	4	22	1	0	0	0	0	0	0	0	1	8299	291	11	5		5	KIF2C	1	45218895	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	622515	45218895	204031726	329	5437										
PTCH2	8643	hgsc.bcm.edu	37	chr1	45293518	45293518	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgcccagtcttaccttAgcatgtgactggagcagcaa	10	12	2	1	rs7525308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:45293518A>G	ENST00000372192.3	-	14	2185	c.2055T>C	c.(2053-2055)gcT>gcC	p.A685A	PTCH2_ENST00000447098.2_Silent_p.A685A	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	685					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GTCTTACCTTAGCATGTGACT	0.617									Basal Cell Nevus syndrome				G|||	2231	0.445487	0.6021	0.4409	5008	,	,		21976	0.4911		0.3191	False		,,,				2504	0.32				p.A685A		Atlas-SNP	.											.	PTCH2	96	.	0			c.T2055C						PASS	.	G	,	2576,1830	533.1+/-373.6	765,1046,392	57	55	56		2055,2055	2.6	0.8	1	dbSNP_116	56	2944,5656	667.7+/-402.5	524,1896,1880	no	coding-synonymous,coding-synonymous	PTCH2	NM_001166292.1,NM_003738.4	,	1289,2942,2272	GG,GA,AA		34.2326,41.5343,42.4419	,	685/1147,685/1204	45293518	5520,7486	2203	4300	6503	SO:0001819	synonymous_variant	8643	exon14	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	TACCTTAGCATGT	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2055T>C	1.37:g.45293518A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	CCDS516.1																																																																																			A|0.574;G|0.426	0.426	strong		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		G	45293518	A	G	45293518	2	3	22	1	0	0	0	0	0	0	0	1	12731	407	15	3		3	PTCH2	1	45293518	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74623	45293518	203957103	330	5438										
EIF2B3	8891	hgsc.bcm.edu	37	chr1	45444038	45444038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcagttcccatgtcagcGtcatcaggaatacacacaat	7	12	4	0	rs11556200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:45444038G>A	ENST00000360403.2	-	3	369	c.243C>T	c.(241-243)gaC>gaT	p.D81D	EIF2B3_ENST00000372183.3_Silent_p.D81D|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	81					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCATGTCAGCGTCATCAGGAA	0.363													A|||	1485	0.296526	0.4032	0.4265	5008	,	,		17307	0.2758		0.1998	False		,,,				2504	0.181				p.D81D	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.C243T						PASS	.	A	,	1705,2701	653.0+/-399.5	345,1015,843	215	210	211		243,243	-4.9	0.8	1	dbSNP_120	211	1990,6610	723.2+/-406.4	234,1522,2544	no	coding-synonymous,coding-synonymous	EIF2B3	NM_001166588.1,NM_020365.3	,	579,2537,3387	AA,AG,GG		23.1395,38.6972,28.41	,	81/413,81/453	45444038	3695,9311	2203	4300	6503	SO:0001819	synonymous_variant	8891	exon3			GTCAGCGTCATCA	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.243C>T	1.37:g.45444038G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	125	63	0.504	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	CCDS517.1																																																																																			G|0.714;A|0.286	0.286	strong		0.363	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		A	45444038	G	A	45444038	2	1	22	1	0	0	0	0	0	0	0	1	5002	1136	40	1		1	EIF2B3	1	45444038	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	150520	45444038	203806583	331	5439										
CCDC17	149483	hgsc.bcm.edu	37	chr1	46086588	46086588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcacctgaggaatcccaTtcagctgcccaaggctaagg	9	14	2	1	rs16832629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46086588T>C	ENST00000528266.1	-	11	1733	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.N520S|CCDC17_ENST00000343901.2_Missense_Mutation_p.N497S|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	529										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					AGGAATCCCATTCAGCTGCCC	0.577													T|||	32	0.00638978	0.0227	0.0029	5008	,	,		22169	0.0		0.0	False		,,,				2504	0.0				p.N529S		Atlas-SNP	.											.	CCDC17	54	.	0			c.A1586G						PASS	.	T	SER/ASN,SER/ASN	81,4325	68.7+/-106.4	0,81,2122	49	44	46		1586,1559	4.8	0.8	1	dbSNP_123	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CCDC17	NM_001114938.2,NM_001190182.1	46,46	0,82,6421	CC,CT,TT		0.0116,1.8384,0.6305	probably-damaging,probably-damaging	529/623,520/614	46086588	82,12924	2203	4300	6503	SO:0001583	missense	149483	exon11			ATCCCATTCAGCT		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1586A>G	1.37:g.46086588T>C	ENSP00000432172:p.Asn529Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	140	57	0.407143	NM_001114938	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	20.8	4.050511	0.75960	0.018384	1.16E-4	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.48201	0.82;0.82;0.82	5.92	4.77	0.60923	.	0.130657	0.52532	D	0.000077	T	0.49389	0.1554	M	0.71581	2.175	0.36900	D	0.890378	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70227	0.954;0.968;0.954	T	0.68492	-0.5394	10	0.87932	D	0	-5.1285	11.5274	0.50588	0.1344:0.0:0.0:0.8656	rs16832629	529;520;497	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	S	520;497;529	ENSP00000389415:N520S;ENSP00000341451:N497S;ENSP00000432172:N529S	ENSP00000341451:N497S	N	-	2	0	CCDC17	45859175	0.991000	0.36638	0.794000	0.32065	0.951000	0.60555	2.283000	0.43470	1.021000	0.39600	0.533000	0.62120	AAT	T|0.993;C|0.007	0.007	strong		0.577	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		C	46086588	T	C	46086588	3	2	22	1	0	0	0	0	1	0	0	0	2793	1493	52	2	294	2	CCDC17	1	46086588	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	642550	46086588	203164033	332	5440										
MAST2	23139	hgsc.bcm.edu	37	chr1	46496368	46496368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagtgaggagaaggaggaCcattcagatggcctggcagg	17	7	1	4	rs376559790		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46496368C>T	ENST00000361297.2	+	22	2926	c.2643C>T	c.(2641-2643)gaC>gaT	p.D881D	MAST2_ENST00000372009.2_Silent_p.D811D	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGAAGGAGGACCATTCAGATG	0.642																																					p.D881D		Atlas-SNP	.											.	MAST2	136	.	0			c.C2643T						PASS	.						21	24	23					1																	46496368		2045	4187	6232	SO:0001819	synonymous_variant	23139	exon22			GGAGGACCATTCA	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2643C>T	1.37:g.46496368C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	119	5	0.0420168	NM_015112		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																			.	.	none		0.642	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46496368	C	T	46496368	2	4	22	1	0	0	0	0	0	0	0	1	9325	506	18	2		2	MAST2	1	46496368	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	409780	46496368	202754253	333	5441										
UQCRH	7388	hgsc.bcm.edu	37	chr1	46775856	46775856	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacagtgagagagcaatgCgagcagttggagaaatgtgt	14	5	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46775856C>A	ENST00000311672.5	+	3	247	c.111C>A	c.(109-111)tgC>tgA	p.C37*		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	37					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|protein heterooligomerization (GO:0051291)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GAGAGCAATGCGAGCAGTTGG	0.468																																					p.C37X		Atlas-SNP	.											.	UQCRH	4	.	0			c.C111A						PASS	.						84	85	85					1																	46775856		2203	4300	6503	SO:0001587	stop_gained	7388	exon3			GCAATGCGAGCAG	BC001934	CCDS30704.1	1p34.1	2011-07-04			ENSG00000173660	ENSG00000173660	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12590	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VIII"	613844				2826252	Standard	XM_005271167		Approved	QCR6, UQCR8	uc001cpp.3	P07919	OTTHUMG00000007813	ENST00000311672.5:c.111C>A	1.37:g.46775856C>A	ENSP00000309565:p.Cys37*	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	193	100	0.518135	NM_006004	B2R4V9|D3DQ18|Q5TDF6|Q6LDB8|Q9BQ91	Nonsense_Mutation	SNP	ENST00000311672.5	37	CCDS30704.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424984	0.83667	.	.	ENSG00000173660	ENST00000311672	.	.	.	5.23	0.0755	0.14399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1407	9.4087	0.38477	0.0:0.3877:0.0:0.6123	.	.	.	.	X	37	.	ENSP00000309565:C37X	C	+	3	2	UQCRH	46548443	0.816000	0.29132	0.998000	0.56505	0.997000	0.91878	-0.075000	0.11431	0.135000	0.18707	0.655000	0.94253	TGC	.	.	none		0.468	UQCRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021451.1	NM_006004		A	46775856	C	A	46775856	4	1	22	1	0	0	0	0	0	1	0	0	17019	776	27	4	121	4	UQCRH	1	46775856	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	279488	46775856	202474765	334	5442										
NSUN4	387338	hgsc.bcm.edu	37	chr1	46810530	46810530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgcagaattttgacatgActtacagtgtgcagtttgga	10	6	0	3	rs3737744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46810530A>G	ENST00000474844.1	+	2	801	c.151A>G	c.(151-153)Act>Gct	p.T51A	NSUN4_ENST00000536062.1_Missense_Mutation_p.T2A|NSUN4_ENST00000537428.1_Missense_Mutation_p.T2A|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	51			T -> A (in dbSNP:rs3737744). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTTTGACATGACTTACAGTGT	0.483													A|||	1525	0.304513	0.1415	0.3559	5008	,	,		23393	0.5169		0.3419	False		,,,				2504	0.2311				p.T51A		Atlas-SNP	.											.	NSUN4	26	.	0			c.A151G						PASS	.	A	ALA/THR	801,3605	321.5+/-297.2	77,647,1479	177	173	175		151	5.4	1	1	dbSNP_107	175	2849,5751	449.1+/-362.0	466,1917,1917	yes	missense	NSUN4	NM_199044.2	58	543,2564,3396	GG,GA,AA		33.1279,18.1798,28.064	benign	51/385	46810530	3650,9356	2203	4300	6503	SO:0001583	missense	387338	exon2			GACATGACTTACA	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.151A>G	1.37:g.46810530A>G	ENSP00000419740:p.Thr51Ala	Somatic	215	1	0.00465116		WXS	Illumina HiSeq	Phase_I	227	107	0.471366	NM_199044	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	775	0.35485347985347987	81	0.16463414634146342	143	0.39502762430939226	282	0.493006993006993	269	0.3548812664907652	A	16.01	3.001459	0.54254	0.181798	0.331279	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14516	2.54;2.5;2.5	5.45	5.45	0.79879	.	0.207467	0.49916	D	0.000140	T	0.00012	0.0000	L	0.46157	1.445	0.24446	P	0.99450097	B	0.11235	0.004	B	0.10450	0.005	T	0.47381	-0.9122	9	0.17369	T	0.5	-15.6344	15.1862	0.73002	1.0:0.0:0.0:0.0	rs3737744;rs3895370;rs17845416;rs17858282;rs52835213;rs61120032;rs3737744	51	Q96CB9	NSUN4_HUMAN	A	51;2;2	ENSP00000419740:T51A;ENSP00000438912:T2A;ENSP00000437758:T2A	ENSP00000419740:T51A	T	+	1	0	NSUN4	46583117	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.480000	0.66820	2.080000	0.62538	0.460000	0.39030	ACT	G|0.311;N|0.000	0.311	strong		0.483	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		G	46810530	A	G	46810530	3	3	22	1	0	0	0	0	1	0	0	0	10680	275	10	2	157	2	NSUN4	1	46810530	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34674	46810530	202440091	335	5443										
FAAH	2166	hgsc.bcm.edu	37	chr1	46874246	46874246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacagagccttgaggctgCggggcacacggtatgactgc	14	11	0	3	rs77101686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46874246C>T	ENST00000243167.8	+	8	1151	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	356					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTTGAGGCTGCGGGGCACACG	0.617													C|||	42	0.00838658	0.0076	0.0	5008	,	,		20191	0.0159		0.0	False		,,,				2504	0.0164				p.A356V		Atlas-SNP	.											FAAH,colon,carcinoma,-1,1	FAAH	36	1	0			c.C1067T						scavenged	.	C	VAL/ALA	8,4398	15.5+/-35.6	0,8,2195	152	156	155		1067	5.4	1	1	dbSNP_131	155	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FAAH	NM_001441.2	64	0,12,6491	TT,TC,CC		0.0465,0.1816,0.0923	probably-damaging	356/580	46874246	12,12994	2203	4300	6503	SO:0001583	missense	2166	exon8			AGGCTGCGGGGCA	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1067C>T	1.37:g.46874246C>T	ENSP00000243167:p.Ala356Val	Somatic	59	1	0.0169492		WXS	Illumina HiSeq	Phase_I	68	43	0.632353	NM_001441	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	12	0.005494505494505495	1	0.0020325203252032522	0	0.0	11	0.019230769230769232	0	0.0	C	31	5.097033	0.94197	0.001816	4.65E-4	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.56776	0.44	5.4	5.4	0.78164	Amidase signature domain (2);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.79065	-0.1956	10	0.87932	D	0	0.6812	19.1897	0.93660	0.0:1.0:0.0:0.0	.	356	O00519	FAAH1_HUMAN	V	356;63	ENSP00000243167:A356V	ENSP00000243167:A356V	A	+	2	0	FAAH	46646833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.585000	0.67497	2.548000	0.85928	0.655000	0.94253	GCG	C|0.998;T|0.002	0.002	strong		0.617	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		T	46874246	C	T	46874246	3	4	22	1	0	0	0	0	1	0	0	0	5353	768	27	1	1097	1	FAAH	1	46874246	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	63716	46874246	202376375	336	5444										
FAAH	2166	hgsc.bcm.edu	37	chr1	46876488	46876488	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgtctgtcctgtgcagctGccaaggctgtcagctttcct	11	13	2	0	rs74783386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46876488G>C	ENST00000243167.8	+	11	1362	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	426					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTGTGCAGCTGCCAAGGCTGT	0.617													C|||	42	0.00838658	0.0076	0.0	5008	,	,		18450	0.0159		0.0	False		,,,				2504	0.0164				p.L426L		Atlas-SNP	.											.	FAAH	36	.	0			c.G1278C						PASS	.	C		8,4398	825.1+/-416.5	0,8,2195	93	80	84		1278	1.2	1	1	dbSNP_131	84	4,8596	819.0+/-406.8	0,4,4296	no	coding-synonymous	FAAH	NM_001441.2		0,12,6491	CC,CG,GG		0.0465,0.1816,0.0923		426/580	46876488	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2166	exon11			GCAGCTGCCAAGG	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1278G>C	1.37:g.46876488G>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	176	80	0.454545	NM_001441	D3DQ19|Q52M86|Q5TDF8	Silent	SNP	ENST00000243167.8	37	CCDS535.1																																																																																			G|0.998;C|0.002	0.002	strong		0.617	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		C	46876488	G	C	46876488	2	2	22	1	0	0	0	0	0	0	0	1	5353	1306	46	4		4	FAAH	1	46876488	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2242	46876488	202374133	337	5445										
FAAH	2166	hgsc.bcm.edu	37	chr1	46877885	46877885	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgctgacccccatgctggCccctgctctggacttgaatg	12	14	1	2	rs75429705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:46877885C>G	ENST00000243167.8	+	13	1511	c.1427C>G	c.(1426-1428)gCc>gGc	p.A476G		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	476					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCCATGCTGGCCCCTGCTCTG	0.637													G|||	43	0.00858626	0.0076	0.0	5008	,	,		17547	0.0169		0.0	False		,,,				2504	0.0164				p.A476G		Atlas-SNP	.											.	FAAH	36	.	0			c.C1427G						PASS	.	G	GLY/ALA	6,4354		0,6,2174	73	72	72		1427	4.7	1	1	dbSNP_131	72	4,8536		0,4,4266	no	missense	FAAH	NM_001441.2	60	0,10,6440	GG,GC,CC		0.0468,0.1376,0.0775	benign	476/580	46877885	10,12890	2180	4270	6450	SO:0001583	missense	2166	exon13			TGCTGGCCCCTGC	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1427C>G	1.37:g.46877885C>G	ENSP00000243167:p.Ala476Gly	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	196	107	0.545918	NM_001441	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	12	0.005494505494505495	1	0.0020325203252032522	0	0.0	11	0.019230769230769232	0	0.0	G	6.661	0.490412	0.12702	0.001376	4.68E-4	ENSG00000117480	ENST00000243167	T	0.64991	-0.13	4.66	4.66	0.58398	Amidase signature domain (2);	0.120287	0.56097	N	0.000022	T	0.22085	0.0532	N	0.04297	-0.235	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.04537	-1.0944	10	0.08599	T	0.76	-24.7092	15.0542	0.71901	0.0:0.1428:0.8572:0.0	.	476	O00519	FAAH1_HUMAN	G	476	ENSP00000243167:A476G	ENSP00000243167:A476G	A	+	2	0	FAAH	46650472	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	6.705000	0.74644	1.203000	0.43233	-0.120000	0.15030	GCC	C|0.997;G|0.003	0.003	strong		0.637	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		G	46877885	C	G	46877885	3	3	22	1	0	0	0	0	1	0	0	0	5353	739	26	4	1477	4	FAAH	1	46877885	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1397	46877885	202372736	338	5446										
MOBKL2C	148932	hgsc.bcm.edu	37	chr1	47080741	47080741	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagcaaagagatttctgCgcttcatttgccatctccat	7	12	3	2	rs12029680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47080741C>T	ENST00000319928.3	-	1	181				MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.R3H|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C								metal ion binding (GO:0046872)										GAGATTTCTGCGCTTCATTTG	0.517													C|||	1674	0.334265	0.5272	0.3516	5008	,	,		15350	0.246		0.2684	False		,,,				2504	0.2198				p.R3H		Atlas-SNP	.											.	MOB3C	1	.	0			c.G8A						PASS	.	C	HIS/ARG,	2141,2265	580.9+/-385.2	522,1097,584	67	67	67		8,	-6.2	0	1	dbSNP_120	67	2178,6422	371.8+/-336.4	255,1668,2377	yes	missense,intron	MOB3C	NM_145279.4,NM_201403.2	29,	777,2765,2961	TT,TC,CC		25.3256,48.5928,33.2078	,	3/269,	47080741	4319,8687	2203	4300	6503	SO:0001627	intron_variant	148932	exon1			TTTCTGCGCTTCA	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.49+1641G>A	1.37:g.47080741C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	149	62	0.416107	NM_145279	D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	CCDS540.1	717	0.3282967032967033	248	0.5040650406504065	134	0.3701657458563536	146	0.25524475524475526	189	0.24934036939313983	C	9.051	0.992086	0.18966	0.485928	0.253256	ENSG00000142961	ENST00000271139	.	.	.	3.12	-6.24	0.02046	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.22977	-1.0201	4	0.87932	D	0	.	9.3601	0.38190	0.0:0.1714:0.1148:0.7139	rs12029680;rs52809751;rs60956522;rs12029680	.	.	.	H	3	.	ENSP00000271139:R3H	R	-	2	0	MOBKL2C	46853328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.176000	0.00571	-2.577000	0.00464	-0.743000	0.03520	CGC	C|0.666;T|0.334	0.334	strong		0.517	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		T	47080741	C	T	47080741	1	4	22	0	1	0	0	0	0	0	0	0	9686	768	27	1		1	MOBKL2C	1	47080741	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	202856	47080741	202169880	339	5447										
CYP4B1	1580	hgsc.bcm.edu	37	chr1	47280859	47280859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggtttctctactgcatGgccctgtaccctgagcacca	8	15	1	1	rs2297810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47280859G>A	ENST00000271153.4	+	8	1029	c.993G>A	c.(991-993)atG>atA	p.M331I	CYP4B1_ENST00000452782.2_Missense_Mutation_p.M169I|CYP4B1_ENST00000371923.4_Missense_Mutation_p.M332I|CYP4B1_ENST00000371919.4_Missense_Mutation_p.M317I			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	331			M -> I (in allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5; dbSNP:rs2297810). {ECO:0000269|PubMed:12142726, ECO:0000269|Ref.5}.		biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCTACTGCATGGCCCTGTACC	0.562													g|||	1356	0.270767	0.4614	0.2334	5008	,	,		20608	0.2808		0.1312	False		,,,				2504	0.1728				p.M332I		Atlas-SNP	.											.	CYP4B1	81	.	0			c.G996A						PASS	.	G	ILE/MET,ILE/MET	1819,2587	533.4+/-373.7	380,1059,764	126	100	109		993,996	4	1	1	dbSNP_100	109	1265,7335	253.3+/-279.0	98,1069,3133	yes	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	10,10	478,2128,3897	AA,AG,GG		14.7093,41.2846,23.7121	benign,benign	331/512,332/513	47280859	3084,9922	2203	4300	6503	SO:0001583	missense	1580	exon8			CTGCATGGCCCTG	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.993G>A	1.37:g.47280859G>A	ENSP00000271153:p.Met331Ile	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	155	77	0.496774	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	626	0.2866300366300366	246	0.5	79	0.21823204419889503	194	0.33916083916083917	107	0.14116094986807387	g	34	5.379942	0.95945	0.412846	0.147093	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.79033	-1.23;-1.23;-0.26;-1.23;-1.23	5.85	3.95	0.45737	.	0.099034	0.64402	D	0.000001	T	0.00012	0.0000	N	0.12920	0.275	0.22389	P	0.999143936	B;B;B	0.26577	0.153;0.032;0.018	B;B;B	0.27262	0.078;0.03;0.05	T	0.43294	-0.9400	9	0.54805	T	0.06	.	12.1686	0.54144	0.0655:0.1195:0.815:0.0	rs2297810;rs12724127;rs17102584;rs56573458;rs58421583;rs2297810	317;332;331	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	I	332;331;317;169;168	ENSP00000360991:M332I;ENSP00000271153:M331I;ENSP00000360987:M317I;ENSP00000400413:M169I;ENSP00000437670:M168I	ENSP00000271153:M331I	M	+	3	0	CYP4B1	47053446	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.945000	0.87732	1.475000	0.48197	0.643000	0.83706	ATG	G|0.736;A|0.264	0.264	strong		0.562	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		A	47280859	G	A	47280859	3	1	22	1	0	0	0	0	1	0	0	0	4185	1348	47	2	1026	2	CYP4B1	1	47280859	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	200118	47280859	201969762	340	5448										
CYP4B1	1580	hgsc.bcm.edu	37	chr1	47283814	47283814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccttcaggtctttgactcTctgcgcttttccactgagaa	7	13	3	2	rs74072926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47283814T>C	ENST00000271153.4	+	11	1317	c.1281T>C	c.(1279-1281)tcT>tcC	p.S427S	CYP4B1_ENST00000371919.4_Silent_p.S413S|CYP4B1_ENST00000371923.4_Silent_p.S428S|CYP4B1_ENST00000452782.2_Silent_p.S265S			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	427					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCTTTGACTCTCTGCGCTTTT	0.577													T|||	24	0.00479233	0.0166	0.0029	5008	,	,		20927	0.0		0.0	False		,,,				2504	0.0				p.S428S		Atlas-SNP	.											CYP4B1,bladder,carcinoma,+1,2	CYP4B1	81	2	0			c.T1284C						PASS	.	T	,	36,4370	42.3+/-75.8	0,36,2167	147	136	140		1281,1284	-4.7	0.8	1	dbSNP_130	140	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	CYP4B1	NM_000779.3,NM_001099772.1	,	0,38,6465	CC,CT,TT		0.0233,0.8171,0.2922	,	427/512,428/513	47283814	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	1580	exon11			TGACTCTCTGCGC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1281T>C	1.37:g.47283814T>C		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	187	95	0.508021	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																			T|0.995;C|0.005	0.005	strong		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		C	47283814	T	C	47283814	2	2	22	1	0	0	0	0	0	0	0	1	4185	1538	54	3		3	CYP4B1	1	47283814	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2955	47283814	201966807	341	5449										
CYP4A11	1579	hgsc.bcm.edu	37	chr1	47398496	47398496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaacccggtgcaaaacggAaagggtcaaacacctgcaga	11	11	1	2	rs1126742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47398496A>G	ENST00000310638.4	-	11	1332	c.1301T>C	c.(1300-1302)tTc>tCc	p.F434S	CYP4A11_ENST00000462347.1_Missense_Mutation_p.F336S|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.F434S|CYP4A11_ENST00000371904.4_Missense_Mutation_p.F435S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	434			F -> S (associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:15895287, ECO:0000269|PubMed:8274222, ECO:0000269|PubMed:8363569, ECO:0000269|Ref.5}.		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGCAAAACGGAAAGGGTCAAA	0.547													G|||	1209	0.241414	0.3336	0.1542	5008	,	,		20640	0.2579		0.1451	False		,,,				2504	0.2607				p.F434S		Atlas-SNP	.											.	CYP4A11	77	.	0			c.T1301C	GRCh37	CM050003	CYP4A11	M	rs1126742	PASS	.	G	SER/PHE	1273,3133		223,827,1153	289	307	301		1301	0.3	0.1	1	dbSNP_86	301	1115,7485		89,937,3274	no	missense	CYP4A11	NM_000778.3	155	312,1764,4427	GG,GA,AA		12.9651,28.8924,18.3608	benign	434/520	47398496	2388,10618	2203	4300	6503	SO:0001583	missense	1579	exon11			AAACGGAAAGGGT	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1301T>C	1.37:g.47398496A>G	ENSP00000311095:p.Phe434Ser	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	245	101	0.412245	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	379	0.17353479853479853	114	0.23170731707317074	46	0.1270718232044199	116	0.20279720279720279	103	0.1358839050131926	N	2.872	-0.233838	0.05983	0.288924	0.129651	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.66995	-0.24;-0.24;-0.24	5.11	0.315	0.15852	.	0.447956	0.24483	N	0.038125	T	0.00012	0.0000	N	0.01779	-0.725	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.06405	0.002	T	0.19224	-1.0312	9	0.11182	T	0.66	.	5.1371	0.14941	0.5073:0.0:0.2854:0.2073	rs1126742;rs3181965;rs4233507;rs17411649;rs56782585	434	Q02928	CP4AB_HUMAN	S	434;435;434	ENSP00000311095:F434S;ENSP00000360971:F435S;ENSP00000360972:F434S	ENSP00000311095:F434S	F	-	2	0	CYP4A11	47171083	0.000000	0.05858	0.053000	0.19242	0.662000	0.39071	-0.066000	0.11598	0.032000	0.15435	-0.128000	0.14901	TTC	A|0.500;G|0.500	0.500	weak		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		G	47398496	A	G	47398496	3	3	22	1	0	0	0	0	1	0	0	0	4183	246	9	2	266	2	CYP4A11	1	47398496	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	114682	47398496	201852125	342	5450										
CYP4A22	284541	hgsc.bcm.edu	37	chr1	47603338	47603338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccctcccactggctcttcGggcacatccaggaggtaggg	12	15	1	0	rs112604161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47603338G>A	ENST00000371891.3	+	1	212	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G61R|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G61R|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	61						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCTCTTCGGGCACATCCA	0.602													G|||	54	0.0107827	0.0378	0.0014	5008	,	,		19903	0.0		0.003	False		,,,				2504	0.0				p.G61R	Pancreas(88;1240 1470 2099 14214 37557)	Atlas-SNP	.											.	CYP4A22	60	.	0			c.G181A						PASS	.	G	ARG/GLY	153,4253	102.5+/-141.1	4,145,2054	46	40	42		181	2.5	0	1	dbSNP_132	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	125	4,146,6353	AA,AG,GG		0.0116,3.4725,1.1841	probably-damaging	61/520	47603338	154,12852	2203	4300	6503	SO:0001583	missense	284541	exon1			CTCTTCGGGCACA		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.181G>A	1.37:g.47603338G>A	ENSP00000360958:p.Gly61Arg	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	171	82	0.479532	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	21	0.009615384615384616	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	17.36	3.368930	0.61624	0.034725	1.16E-4	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.78481	-1.08;-1.18;-1.18	2.47	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	H	0.96460	3.825	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86371	0.1723	10	0.87932	D	0	.	13.1509	0.59488	0.0:0.0:1.0:0.0	.	61;61	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	R	61	ENSP00000360957:G61R;ENSP00000360958:G61R;ENSP00000294337:G61R	ENSP00000294337:G61R	G	+	1	0	CYP4A22	47375925	1.000000	0.71417	0.009000	0.14445	0.114000	0.19823	4.707000	0.61852	1.071000	0.40834	0.205000	0.17691	GGG	G|0.987;A|0.013	0.013	strong		0.602	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		A	47603338	G	A	47603338	3	1	22	1	0	0	0	0	1	0	0	0	4184	1116	39	1	183	1	CYP4A22	1	47603338	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	204842	47603338	201647283	343	5451										
CYP4A22	284541	hgsc.bcm.edu	37	chr1	47607281	47607281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacaaattcctggctccaCggattggtatgtgtgcaaac	9	11	0	0	rs12564525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47607281C>T	ENST00000371891.3	+	3	407	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R126W|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R126W|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	126			R -> W (in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCTCCACGGATTGGTAT	0.453													c|||	1859	0.371206	0.2254	0.2867	5008	,	,		23221	0.6141		0.2058	False		,,,				2504	0.5481				p.R126W	Pancreas(88;1240 1470 2099 14214 37557)	Atlas-SNP	.											.	CYP4A22	60	.	0			c.C376T						PASS	.	T	TRP/ARG	1099,3307	720.2+/-409.0	129,841,1233	132	122	125		376	1.7	0.7	1	dbSNP_120	125	1802,6798	732.5+/-406.8	197,1408,2695	yes	missense	CYP4A22	NM_001010969.2	101	326,2249,3928	TT,TC,CC		20.9535,24.9433,22.3051	benign	126/520	47607281	2901,10105	2203	4300	6503	SO:0001583	missense	284541	exon3			GCTCCACGGATTG		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.376C>T	1.37:g.47607281C>T	ENSP00000360958:p.Arg126Trp	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	164	85	0.518293	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	682	0.31227106227106227	103	0.20934959349593496	90	0.24861878453038674	342	0.5979020979020979	147	0.19393139841688653	t	0.721	-0.783423	0.02907	0.249433	0.209535	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.67865	-0.27;-0.29;-0.29	1.66	1.66	0.24008	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00003	-3.465	0.51482	P	7.900000000005125E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48514	-0.9029	9	0.02654	T	1	.	6.8608	0.24066	0.0:0.126:0.0:0.874	rs12564525;rs57365220	126;126	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	W	126	ENSP00000360957:R126W;ENSP00000360958:R126W;ENSP00000294337:R126W	ENSP00000294337:R126W	R	+	1	2	CYP4A22	47379868	1.000000	0.71417	0.697000	0.30258	0.155000	0.21991	2.836000	0.48183	0.117000	0.18138	-0.665000	0.03846	CGG	C|0.715;T|0.285	0.285	strong		0.453	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		T	47607281	C	T	47607281	3	4	22	1	0	0	0	0	1	0	0	0	4184	527	19	1	386	1	CYP4A22	1	47607281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3943	47607281	201643340	344	5452										
CYP4A22	284541	hgsc.bcm.edu	37	chr1	47607785	47607785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtgtctaccttagggtacGgcttgctcctgttgaatggg	13	9	1	1	rs2056900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47607785G>A	ENST00000371891.3	+	4	419	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G130S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G130S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	130			G -> S (in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTAGGGTACGGCTTGCTCCT	0.537													G|||	1684	0.336262	0.2073	0.232	5008	,	,		22904	0.5546		0.1928	False		,,,				2504	0.5072				p.G130S	Pancreas(88;1240 1470 2099 14214 37557)	Atlas-SNP	.											.	CYP4A22	60	.	0			c.G388A						PASS	.	G	SER/GLY	1005,3401	374.2+/-321.1	104,797,1302	100	83	89		388	0.7	0.1	1	dbSNP_94	89	1733,6867	316.6+/-312.8	183,1367,2750	yes	missense	CYP4A22	NM_001010969.2	56	287,2164,4052	AA,AG,GG		20.1512,22.8098,21.0518	probably-damaging	130/520	47607785	2738,10268	2203	4300	6503	SO:0001583	missense	284541	exon4			GGGTACGGCTTGC		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.388G>A	1.37:g.47607785G>A	ENSP00000360958:p.Gly130Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	128	56	0.4375	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	640	0.29304029304029305	98	0.1991869918699187	86	0.23756906077348067	315	0.5506993006993007	141	0.18601583113456466	g	18.98	3.738385	0.69304	0.228098	0.201512	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.72394	-0.65;-0.65;-0.65	1.7	0.679	0.17975	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.87328	2.875	0.22811	P	0.99870156	P;D	0.69078	0.935;0.997	B;P	0.61722	0.38;0.893	T	0.45716	-0.9242	9	0.72032	D	0.01	.	8.2754	0.31868	0.1313:0.0:0.8687:0.0	rs2056900;rs52794745;rs2056900	130;130	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	130	ENSP00000360957:G130S;ENSP00000360958:G130S;ENSP00000294337:G130S	ENSP00000294337:G130S	G	+	1	0	CYP4A22	47380372	1.000000	0.71417	0.118000	0.21660	0.682000	0.39822	3.218000	0.51192	0.034000	0.15491	0.195000	0.17529	GGC	G|0.768;A|0.232	0.232	strong		0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		A	47607785	G	A	47607785	3	1	22	1	0	0	0	0	1	0	0	0	4184	1116	39	1	402	1	CYP4A22	1	47607785	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	504	47607785	201642836	345	5453										
CYP4A22	284541	hgsc.bcm.edu	37	chr1	47608983	47608983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggattcccctctggagGtctttcagcacgtctccttg	10	14	4	0	rs113777592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47608983G>T	ENST00000371891.3	+	5	584	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.V185F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V185F|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	185			V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs113777592). {ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCTCTGGAGGTCTTTCAGCA	0.542													G|||	1681	0.335663	0.2057	0.232	5008	,	,		19651	0.5536		0.1928	False		,,,				2504	0.5072				p.V185F	Pancreas(88;1240 1470 2099 14214 37557)	Atlas-SNP	.											CYP4A22,colon,carcinoma,-2,1	CYP4A22	60	1	0			c.G553T						scavenged	.	G	PHE/VAL	1006,3400	372.0+/-320.2	107,792,1304	70	64	66		553	-1.9	0	1	dbSNP_132	66	1731,6865	315.9+/-312.5	184,1363,2751	no	missense	CYP4A22	NM_001010969.2	50	291,2155,4055	TT,TG,GG		20.1373,22.8325,21.0506	possibly-damaging	185/520	47608983	2737,10265	2203	4298	6501	SO:0001583	missense	284541	exon5			CTGGAGGTCTTTC		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.553G>T	1.37:g.47608983G>T	ENSP00000360958:p.Val185Phe	Somatic	759	4	0.00527009		WXS	Illumina HiSeq	Phase_I	818	318	0.388753	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	613	0.2806776556776557	95	0.19308943089430894	83	0.2292817679558011	298	0.5209790209790209	137	0.18073878627968337	g	12.99	2.104200	0.37145	0.228325	0.201373	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.70516	-0.45;-0.49;-0.49	1.44	-1.89	0.07689	.	0.621999	0.16471	N	0.212985	T	0.00012	0.0000	M	0.63843	1.955	0.45567	P	0.0014880000000000448	P;P	0.46064	0.846;0.872	B;P	0.49597	0.264;0.616	T	0.37478	-0.9704	9	0.62326	D	0.03	.	5.0373	0.14441	0.5021:0.2748:0.2231:0.0	.	185;185	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	F	185	ENSP00000360957:V185F;ENSP00000360958:V185F;ENSP00000294337:V185F	ENSP00000294337:V185F	V	+	1	0	CYP4A22	47381570	0.001000	0.12720	0.002000	0.10522	0.478000	0.33099	-1.183000	0.03079	-0.551000	0.06175	0.194000	0.17425	GTC	G|0.849;T|0.151	0.151	strong		0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		T	47608983	G	T	47608983	3	4	22	1	0	0	0	0	1	0	0	0	4184	1261	44	4	571	4	CYP4A22	1	47608983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1198	47608983	201641638	346	5454										
CYP4A22	284541	hgsc.bcm.edu	37	chr1	47611598	47611598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaaagtgtggcccaaccTagaggtatgtggtccttgag	12	10	0	2	rs2405599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47611598T>C	ENST00000371891.3	+	10	1314	c.1283T>C	c.(1282-1284)cTa>cCa	p.L428P	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.L330P|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L428P|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	428			L -> P (in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCCCAACCTAGAGGTATGT	0.512													C|||	1882	0.375799	0.2239	0.2896	5008	,	,		21691	0.6141		0.2237	False		,,,				2504	0.5532				p.L428P	Pancreas(88;1240 1470 2099 14214 37557)	Atlas-SNP	.											.	CYP4A22	60	.	0			c.T1283C						PASS	.	C	PRO/LEU	1117,3289		132,853,1218	290	284	286		1283	0.6	0.7	1	dbSNP_100	286	1931,6669		221,1489,2590	no	missense	CYP4A22	NM_001010969.2	98	353,2342,3808	CC,CT,TT		22.4535,25.3518,23.4353	benign	428/520	47611598	3048,9958	2203	4300	6503	SO:0001583	missense	284541	exon10			CCAACCTAGAGGT		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1283T>C	1.37:g.47611598T>C	ENSP00000360958:p.Leu428Pro	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	276	140	0.507246	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	683	0.31272893772893773	97	0.19715447154471544	91	0.2513812154696133	335	0.5856643356643356	160	0.21108179419525067	N	0.023	-1.394920	0.01175	0.253518	0.224535	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.27890	1.64;1.64;1.64	1.59	0.642	0.17765	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00001	-3.695	0.30109	P	0.806743	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.44221	-0.9342	9	0.02654	T	1	.	5.7987	0.18401	0.0:0.6711:0.0:0.3289	rs2405599;rs59295354	330;428	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	P	330;428;428	ENSP00000360957:L330P;ENSP00000360958:L428P;ENSP00000294337:L428P	ENSP00000294337:L428P	L	+	2	0	CYP4A22	47384185	1.000000	0.71417	0.722000	0.30670	0.190000	0.23558	3.694000	0.54742	-0.120000	0.11809	-1.033000	0.02402	CTA	T|0.740;C|0.260	0.260	strong		0.512	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		C	47611598	T	C	47611598	3	2	22	1	0	0	0	0	1	0	0	0	4184	1522	53	3	1321	3	CYP4A22	1	47611598	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2615	47611598	201639023	347	5455										
TAL1	6886	hgsc.bcm.edu	37	chr1	47685569	47685569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcatctgggggcgcgccGccccctcccccacctccacc	10	22	2	0	rs144117146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:47685569G>A	ENST00000294339.3	-	4	1395	c.819C>T	c.(817-819)ggC>ggT	p.G273G	TAL1_ENST00000371883.3_Silent_p.G275G|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.G273G	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	273	Poly-Gly.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGCGCGccgccccctcccc	0.697			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								G|||	255	0.0509185	0.0908	0.0346	5008	,	,		5200	0.004		0.0378	False		,,,				2504	0.0706				p.G273G		Atlas-SNP	.		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	.	TAL1	31	.	0			c.C819T						PASS	.	G		300,3940		11,278,1831	8	10	10		819	-1.9	0.1	1	dbSNP_134	10	310,8078		6,298,3890	no	coding-synonymous	TAL1	NM_003189.2		17,576,5721	AA,AG,GG		3.6958,7.0755,4.8305		273/332	47685569	610,12018	2120	4194	6314	SO:0001819	synonymous_variant	6886	exon4			CGCGCCGCCCCCT	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.819C>T	1.37:g.47685569G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	109	61	0.559633	NM_003189	D3DQ24	Silent	SNP	ENST00000294339.3	37	CCDS547.1																																																																																			G|0.959;A|0.041	0.041	strong		0.697	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		A	47685569	G	A	47685569	2	1	22	1	0	0	0	0	0	0	0	1	15538	1074	38	1		1	TAL1	1	47685569	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73971	47685569	201565052	348	5456										
SLC5A9	200010	hgsc.bcm.edu	37	chr1	48697713	48697713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaccacctgtcacctcccaCggcccgatgctttccacatt	5	19	1	0	rs140292897	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:48697713C>T	ENST00000438567.2	+	7	839	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R284W|SLC5A9_ENST00000236495.5_Missense_Mutation_p.R288W	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	263					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCACCTCCCACGGCCCGATGC	0.617													C|||	7	0.00139776	0.0045	0.0	5008	,	,		20299	0.0		0.001	False		,,,				2504	0.0				p.R288W		Atlas-SNP	.											.	SLC5A9	82	.	0			c.C862T						PASS	.	C	TRP/ARG,TRP/ARG	27,4379	34.3+/-65.2	0,27,2176	124	113	117		787,862	5	0.8	1	dbSNP_134	117	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SLC5A9	NM_001011547.2,NM_001135181.1	101,101	0,30,6473	TT,TC,CC		0.0349,0.6128,0.2307	probably-damaging,probably-damaging	263/682,288/707	48697713	30,12976	2203	4300	6503	SO:0001583	missense	200010	exon8			CTCCCACGGCCCG	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.787C>T	1.37:g.48697713C>T	ENSP00000401730:p.Arg263Trp	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	233	232	0.995708	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	28.2	4.897309	0.91962	0.006128	3.49E-4	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.89415	-2.46;-2.44;-2.51	5.95	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94931	0.8082	10	0.87932	D	0	.	15.4795	0.75514	0.1395:0.8605:0.0:0.0	.	284;263;288	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	W	284;263;288	ENSP00000431900:R284W;ENSP00000401730:R263W;ENSP00000236495:R288W	ENSP00000236495:R288W	R	+	1	2	SLC5A9	48470300	0.998000	0.40836	0.828000	0.32881	0.985000	0.73830	3.906000	0.56340	1.485000	0.48380	0.563000	0.77884	CGG	C|0.998;T|0.002	0.002	strong		0.617	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48697713	C	T	48697713	3	4	22	1	0	0	0	0	1	0	0	0	14672	527	19	1	892	1	SLC5A9	1	48697713	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1012144	48697713	200552908	349	5457										
AGBL4	84871	hgsc.bcm.edu	37	chr1	49005351	49005351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgccaccttttcaaccaCggggttcagccgataatagt	8	11	2	0	rs60977321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:49005351C>T	ENST00000371839.1	-	12	1443	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	AGBL4_ENST00000334103.7_Missense_Mutation_p.V176M	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	443			V -> M (in dbSNP:rs60977321).		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TTTTCAACCACGGGGTTCAGC	0.512													C|||	322	0.0642971	0.233	0.0144	5008	,	,		17535	0.0		0.004	False		,,,				2504	0.0				p.V443M		Atlas-SNP	.											.	AGBL4	54	.	0			c.G1327A						PASS	.	C	MET/VAL	287,1097		31,225,436	134	111	118		1327	-2.2	1	1	dbSNP_129	118	4,3178		0,4,1587	yes	missense	AGBL4	NM_032785.3	21	31,229,2023	TT,TC,CC		0.1257,20.737,6.3732	benign	443/504	49005351	291,4275	692	1591	2283	SO:0001583	missense	84871	exon12			CAACCACGGGGTT	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1327G>A	1.37:g.49005351C>T	ENSP00000360905:p.Val443Met	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	129	57	0.44186	NM_032785	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	103	0.04716117216117216	100	0.2032520325203252	3	0.008287292817679558	0	0.0	0	0.0	C	4.542	0.100554	0.08731	0.20737	0.001257	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103	T;T	0.44881	2.53;0.91	4.65	-2.18	0.07037	.	2.280690	0.01719	N	0.028181	T	0.00012	0.0000	N	0.08118	0	0.52099	P	5.3999999999998494E-5	B;B;B	0.19583	0.0;0.002;0.037	B;B;B	0.08055	0.0;0.001;0.003	T	0.12863	-1.0531	9	0.25751	T	0.34	-0.0068	1.605	0.02682	0.2303:0.0994:0.4078:0.2624	rs60977321	455;176;443	Q5VU57-2;B4DGK1;Q5VU57	.;.;CBPC6_HUMAN	M	443;437;176	ENSP00000360905:V443M;ENSP00000335516:V176M	ENSP00000335516:V176M	V	-	1	0	AGBL4	48777938	0.020000	0.18652	0.992000	0.48379	0.242000	0.25591	-1.494000	0.02296	-0.194000	0.10399	-1.708000	0.00717	GTG	C|0.961;T|0.039	0.039	strong		0.512	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		T	49005351	C	T	49005351	3	4	22	1	0	0	0	0	1	0	0	0	377	536	19	1	196	1	AGBL4	1	49005351	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	307638	49005351	200245270	350	5458										
EPS15	2060	hgsc.bcm.edu	37	chr1	51826921	51826921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtgaatggatcacaaaaTatttcaggatctttttcttt	7	5	4	1	rs17567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:51826921T>C	ENST00000371733.3	-	24	2562	c.2466A>G	c.(2464-2466)atA>atG	p.I822M	EPS15_ENST00000396122.4_Missense_Mutation_p.I499M|EPS15_ENST00000371730.2_Missense_Mutation_p.I688M	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	822	15 X 3 AA repeats of D-P-F.|Pro-rich.		I -> M (in dbSNP:rs17567). {ECO:0000269|PubMed:8183552}.		cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GATCACAAAATATTTCAGGAT	0.408			T	MLL	ALL								C|||	1169	0.233427	0.5673	0.1643	5008	,	,		18708	0.0119		0.2038	False		,,,				2504	0.09				p.I822M		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	EPS15	72	.	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.A2466G						PASS	.	C	MET/ILE,MET/ILE	2266,2140	579.9+/-385.0	583,1100,520	160	153	155		1524,2466	5.8	1	1	dbSNP_63	155	1982,6618	723.4+/-406.5	228,1526,2546	yes	missense,missense	EPS15	NM_001159969.1,NM_001981.2	10,10	811,2626,3066	CC,CT,TT		23.0465,48.5701,32.6618	benign,benign	508/583,822/897	51826921	4248,8758	2203	4300	6503	SO:0001583	missense	2060	exon24			ACAAAATATTTCA	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2466A>G	1.37:g.51826921T>C	ENSP00000360798:p.Ile822Met	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	147	146	0.993197	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	512	0.23443223443223443	284	0.5772357723577236	57	0.1574585635359116	11	0.019230769230769232	160	0.21108179419525067	C	11.41	1.631297	0.28978	0.514299	0.230465	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.42131	0.98;0.98;0.98	5.85	5.85	0.93711	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.42189	-0.9466	8	0.32370	T	0.25	.	8.8043	0.34927	0.0:0.8244:0.0:0.1756	rs17567;rs12753160;rs17846526;rs17859599;rs52820243;rs58525844;rs17567	688;822;508	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	M	688;822;499	ENSP00000360795:I688M;ENSP00000360798:I822M;ENSP00000379428:I499M	ENSP00000360795:I688M	I	-	3	3	EPS15	51599509	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	0.672000	0.25187	1.492000	0.48499	-0.186000	0.12905	ATA	T|0.702;C|0.298	0.298	strong		0.408	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		C	51826921	T	C	51826921	3	2	22	1	0	0	0	0	1	0	0	0	5192	1396	49	2	232	2	EPS15	1	51826921	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2821570	51826921	197423700	351	5459										
EPS15	2060	hgsc.bcm.edu	37	chr1	51912760	51912760	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcatatttagctttttcTgcaggggatacaacccacta	6	10	3	0	rs34704431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:51912760T>G	ENST00000371733.3	-	10	765	c.669A>C	c.(667-669)gcA>gcC	p.A223A	EPS15_ENST00000371730.2_Silent_p.A223A	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	223	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TAGCTTTTTCTGCAGGGGATA	0.363			T	MLL	ALL								T|||	235	0.0469249	0.0983	0.0274	5008	,	,		17178	0.0109		0.0328	False		,,,				2504	0.0429				p.A223A		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	EPS15,NS,carcinoma,-2,1	EPS15	72	1	1	Whole gene deletion(1)	central_nervous_system(1)	c.A669C						PASS	.	T		349,4057	178.3+/-207.1	14,321,1868	94	97	96		669	2.1	1	1	dbSNP_126	96	273,8327	103.1+/-164.3	4,265,4031	no	coding-synonymous	EPS15	NM_001981.2		18,586,5899	GG,GT,TT		3.1744,7.921,4.7824		223/897	51912760	622,12384	2203	4300	6503	SO:0001819	synonymous_variant	2060	exon10			TTTTTCTGCAGGG	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.669A>C	1.37:g.51912760T>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	55	31	0.563636	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	CCDS557.1																																																																																			T|0.955;G|0.045	0.045	strong		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		G	51912760	T	G	51912760	2	3	22	1	0	0	0	0	0	0	0	1	5192	1567	55	5		5	EPS15	1	51912760	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85839	51912760	197337861	352	5460										
NRD1	4898	hgsc.bcm.edu	37	chr1	52344245	52344245	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggcctcacacaacttccTccgggtggcacagactgcag	10	17	1	1	rs72901974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:52344245T>G	ENST00000354831.7	-	1	232	c.43A>C	c.(43-45)Agg>Cgg	p.R15R	NRD1_ENST00000352171.7_Silent_p.R15R|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_5'Flank	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	15					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						CACAACTTCCTCCGGGTGGCA	0.627													T|||	252	0.0503195	0.0582	0.0043	5008	,	,		15741	0.0556		0.0089	False		,,,				2504	0.1094				p.R15R		Atlas-SNP	.											.	NRD1	89	.	0			c.A43C						PASS	.	T	,	265,4141	138.8+/-174.5	5,255,1943	26	26	26		43,43	4	1	1	dbSNP_130	26	62,8538	35.3+/-89.8	0,62,4238	no	coding-synonymous,coding-synonymous	NRD1	NM_001101662.1,NM_002525.2	,	5,317,6181	GG,GT,TT		0.7209,6.0145,2.5142	,	15/1152,15/1220	52344245	327,12679	2203	4300	6503	SO:0001819	synonymous_variant	4898	exon1			ACTTCCTCCGGGT	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.43A>C	1.37:g.52344245T>G		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	111	50	0.45045	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	CCDS559.1																																																																																			T|0.972;G|0.028	0.028	strong		0.627	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		G	52344245	T	G	52344245	2	3	22	1	0	0	0	0	0	0	0	1	10645	1550	54	5		5	NRD1	1	52344245	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	431485	52344245	196906376	353	5461										
ZFYVE9	9372	hgsc.bcm.edu	37	chr1	52705174	52705174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtgaggtggctccagtAtgggtaccggattctcaggc	16	9	1	1	rs34437486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:52705174A>G	ENST00000371591.1	+	3	2216	c.2085A>G	c.(2083-2085)gtA>gtG	p.V695V	ZFYVE9_ENST00000287727.3_Silent_p.V695V|ZFYVE9_ENST00000357206.2_Silent_p.V695V	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	695					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGCTCCAGTATGGGTACCGG	0.478													A|||	30	0.00599042	0.0227	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0				p.V695V		Atlas-SNP	.											.	ZFYVE9	131	.	0			c.A2085G						PASS	.	A	,,	126,4280	93.0+/-131.7	1,124,2078	71	69	70		2085,2085,2085	-7.1	0.7	1	dbSNP_126	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE9	NM_004799.2,NM_007323.1,NM_007324.2	,,	1,125,6377	GG,GA,AA		0.0116,2.8597,0.9765	,,	695/1426,695/763,695/1367	52705174	127,12879	2203	4300	6503	SO:0001819	synonymous_variant	9372	exon4			TCCAGTATGGGTA	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2085A>G	1.37:g.52705174A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	154	70	0.454545	NM_007323	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	CCDS563.1																																																																																			A|0.991;G|0.009	0.009	strong		0.478	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		G	52705174	A	G	52705174	2	3	22	1	0	0	0	0	0	0	0	1	17668	436	16	2		2	ZFYVE9	1	52705174	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	360929	52705174	196545447	354	5462										
FAM159A	348378	hgsc.bcm.edu	37	chr1	53099242	53099242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgcccgcggccgggggGcgaggcggccgctgtcttct	18	15	2	0	rs182623287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53099242G>A	ENST00000517870.1	+	1	227	c.77G>A	c.(76-78)gGc>gAc	p.G26D	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	26						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						cggccggggggcgaggcggcc	0.716													G|||	5	0.000998403	0.0008	0.0058	5008	,	,		9747	0.0		0.0	False		,,,				2504	0.0				p.G26D		Atlas-SNP	.											.	FAM159A	22	.	0			c.G77A						PASS	.						14	16	16					1																	53099242		1869	4059	5928	SO:0001583	missense	348378	exon1			CGGGGGGCGAGGC		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.77G>A	1.37:g.53099242G>A	ENSP00000429726:p.Gly26Asp	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_001042693	Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	CCDS41336.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.99	2.103714	0.37145	.	.	ENSG00000182183	ENST00000517870	.	.	.	3.44	3.44	0.39384	.	0.253016	0.29876	U	0.010972	T	0.22666	0.0547	N	0.03608	-0.345	0.36963	D	0.893453	P	0.34639	0.461	B	0.39562	0.303	T	0.23511	-1.0186	9	0.06625	T	0.88	.	15.773	0.78187	0.0:0.0:1.0:0.0	.	26	Q6UWV7	F159A_HUMAN	D	26	.	ENSP00000429726:G26D	G	+	2	0	FAM159A	52871830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.263000	0.43293	1.860000	0.53959	0.455000	0.32223	GGC	G|0.999;A|0.001	0.001	strong		0.716	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		A	53099242	G	A	53099242	3	1	22	1	0	0	0	0	1	0	0	0	5468	1203	42	2	79	2	FAM159A	1	53099242	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394068	53099242	196151379	355	5463										
ZYG11B	79699	hgsc.bcm.edu	37	chr1	53262456	53262456	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgagctcttcattgtcagGgtaagtctataatctcctcc	7	11	5	1	rs11206020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53262456G>A	ENST00000294353.6	+	8	1630	c.1485G>A	c.(1483-1485)agG>agA	p.R495R	ZYG11B_ENST00000443756.2_Splice_Site_p.R495R|ZYG11B_ENST00000545132.1_Splice_Site_p.R495R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	495										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TCATTGTCAGGGTAAGTCTAT	0.328													G|||	201	0.0401358	0.1452	0.0115	5008	,	,		10687	0.0		0.001	False		,,,				2504	0.0				p.R495R		Atlas-SNP	.											.	ZYG11B	61	.	0			c.G1485A						PASS	.	G		532,3874	238.7+/-250.0	28,476,1699	136	126	130		1485	2.2	1	1	dbSNP_120	130	6,8594	3.7+/-12.6	0,6,4294	yes	coding-synonymous-near-splice	ZYG11B	NM_024646.2		28,482,5993	AA,AG,GG		0.0698,12.0744,4.1366		495/745	53262456	538,12468	2203	4300	6503	SO:0001630	splice_region_variant	79699	exon8			TGTCAGGGTAAGT	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1485+1G>A	1.37:g.53262456G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	131	55	0.419847	NM_024646	Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	CCDS30717.1																																																																																			G|0.962;A|0.038	0.038	strong		0.328	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	Silent	A	53262456	G	A	53262456	5	1	22	1	0	0	0	0	0	0	1	0	18250	1246	43	2	1515	2	ZYG11B	1	53262456	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	163214	53262456	195988165	356	5464										
SCP2	6342	hgsc.bcm.edu	37	chr1	53453714	53453714	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctataggacaaggtgcaacGctggttgatagaggagataa	13	5	1	3	rs7538935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53453714G>T	ENST00000528311.1	+	10	1040	c.744G>T	c.(742-744)acG>acT	p.T248T	SCP2_ENST00000371513.5_Silent_p.T285T|SCP2_ENST00000407246.2_Silent_p.T305T|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371514.3_Silent_p.T329T|SCP2_ENST00000371509.4_Silent_p.T285T	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AAGGTGCAACGCTGGTTGATA	0.363													G|||	959	0.191494	0.553	0.1009	5008	,	,		16400	0.0407		0.0318	False		,,,				2504	0.0869				p.T329T		Atlas-SNP	.											SCP2,NS,carcinoma,0,1	SCP2	44	1	0			c.G987T						PASS	.	G	,,,,	1882,2524	539.1+/-375.2	421,1040,742	76	86	83		855,915,855,744,987	-4.8	0.2	1	dbSNP_116	83	386,8214	124.4+/-183.2	6,374,3920	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCP2	NM_001007098.2,NM_001193599.1,NM_001193600.1,NM_001193617.1,NM_002979.4	,,,,	427,1414,4662	TT,TG,GG		4.4884,42.7145,17.4381	,,,,	285/323,305/524,285/504,248/467,329/548	53453714	2268,10738	2203	4300	6503	SO:0001819	synonymous_variant	6342	exon11			TGCAACGCTGGTT	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.744G>T	1.37:g.53453714G>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_002979	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000528311.1	37	CCDS53319.1																																																																																			G|0.815;T|0.185	0.185	strong		0.363	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		T	53453714	G	T	53453714	2	4	22	1	0	0	0	0	0	0	0	1	13934	1074	38	4		4	SCP2	1	53453714	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	191258	53453714	195796907	357	5465										
PODN	127435	hgsc.bcm.edu	37	chr1	53527948	53527948	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggggagcgcgttcggccTgtggggcgccgctcggcgcc	20	14	0	0	rs7513730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53527948T>G	ENST00000312553.5	+	1	64	c.57T>G	c.(55-57)ccT>ccG	p.P19P	PODN_ENST00000395871.2_Silent_p.P19P|PODN_ENST00000371500.3_5'UTR	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	0					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTTCGGCCTGTGGGGCGCC	0.736													G|||	2040	0.407348	0.8154	0.3934	5008	,	,		5598	0.3819		0.1024	False		,,,				2504	0.2055				p.P19P		Atlas-SNP	.											.	PODN	86	.	0			c.T57G						PASS	.	G	,,,	2348,1734		691,966,384	5	8	7		,,57,57	-5.1	0	1	dbSNP_116	7	849,7315		54,741,3287	no	utr-5,utr-5,coding-synonymous,coding-synonymous	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	,,,	745,1707,3671	GG,GT,TT		10.3993,42.4792,26.1065	,,,	,,19/520,19/662	53527948	3197,9049	2041	4082	6123	SO:0001819	synonymous_variant	127435	exon1			TCGGCCTGTGGGG	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.57T>G	1.37:g.53527948T>G		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	26	25	0.961538	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	CCDS573.1																																																																																			T|0.628;G|0.372	0.372	strong		0.736	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		G	53527948	T	G	53527948	2	3	22	1	0	0	0	0	0	0	0	1	12178	1567	55	5		5	PODN	1	53527948	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74234	53527948	195722673	358	5466										
PODN	127435	hgsc.bcm.edu	37	chr1	53544271	53544271	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcaagcggttgcacacGgtgcacctgtacaacaacgc	11	14	1	0	rs62000444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53544271G>C	ENST00000312553.5	+	8	1240	c.1233G>C	c.(1231-1233)acG>acC	p.T411T	PODN_ENST00000395871.2_Silent_p.T269T|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Silent_p.T392T	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	363					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTTGCACACGGTGCACCTGT	0.662													G|||	54	0.0107827	0.034	0.0115	5008	,	,		19751	0.0		0.001	False		,,,				2504	0.0				p.T411T		Atlas-SNP	.											.	PODN	86	.	0			c.G1233C						PASS	.	G	,,,	95,4311	76.2+/-114.5	1,93,2109	66	61	63		1176,1176,807,1233	-1.9	1	1	dbSNP_129	63	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	,,,	1,102,6400	CC,CG,GG		0.1047,2.1562,0.7996	,,,	392/643,392/643,269/520,411/662	53544271	104,12902	2203	4300	6503	SO:0001819	synonymous_variant	127435	exon8			GCACACGGTGCAC	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1233G>C	1.37:g.53544271G>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	120	61	0.508333	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	CCDS573.1																																																																																			G|0.992;C|0.008	0.008	strong		0.662	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		C	53544271	G	C	53544271	2	2	22	1	0	0	0	0	0	0	0	1	12178	1103	39	4		4	PODN	1	53544271	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16323	53544271	195706350	359	5467										
SLC1A7	6512	hgsc.bcm.edu	37	chr1	53558366	53558366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgcacaccacggtgacTgagtagaagcccagcttctt	10	14	1	3	rs12129653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:53558366T>C	ENST00000371494.4	-	7	1018	c.891A>G	c.(889-891)tcA>tcG	p.S297S	SLC1A7_ENST00000488036.1_5'Flank	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	297					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CCACGGTGACTGAGTAGAAGC	0.577													C|||	729	0.145567	0.0779	0.2839	5008	,	,		17255	0.247		0.0487	False		,,,				2504	0.1339				p.S297S	NSCLC(128;80 1811 21245 38490 51715)	Atlas-SNP	.											.	SLC1A7	65	.	0			c.A891G						PASS	.	C		365,4041	793.1+/-415.2	12,341,1850	96	102	100		891	-10.2	0	1	dbSNP_120	100	423,8177	800.3+/-407.4	12,399,3889	no	coding-synonymous	SLC1A7	NM_006671.4		24,740,5739	CC,CT,TT		4.9186,8.2842,6.0587		297/561	53558366	788,12218	2203	4300	6503	SO:0001819	synonymous_variant	6512	exon7			GGTGACTGAGTAG	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.891A>G	1.37:g.53558366T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	152	65	0.427632	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	CCDS574.1																																																																																			T|0.913;C|0.087	0.087	strong		0.577	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		C	53558366	T	C	53558366	2	2	22	1	0	0	0	0	0	0	0	1	14437	1567	55	3		3	SLC1A7	1	53558366	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14095	53558366	195692255	360	5468										
GLIS1	148979	hgsc.bcm.edu	37	chr1	54060107	54060107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgctggtgaggcccaaAgagctctgaaaactcatccg	11	13	2	3	rs34961060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54060107A>G	ENST00000312233.2	-	3	1035	c.469T>C	c.(469-471)Ttt>Ctt	p.F157L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGAGGCCCAAAGAGCTCTGAA	0.657													A|||	183	0.0365415	0.1362	0.0029	5008	,	,		14987	0.0		0.001	False		,,,				2504	0.0				p.F157L		Atlas-SNP	.											.	GLIS1	52	.	0			c.T469C						PASS	.	A	LEU/PHE	429,3963		23,383,1790	15	18	17		469	2.4	0.8	1	dbSNP_126	17	4,8562		0,4,4279	yes	missense	GLIS1	NM_147193.2	22	23,387,6069	GG,GA,AA		0.0467,9.7678,3.3416	possibly-damaging	157/621	54060107	433,12525	2196	4283	6479	SO:0001583	missense	148979	exon3			GCCCAAAGAGCTC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.469T>C	1.37:g.54060107A>G	ENSP00000309653:p.Phe157Leu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	63	31	0.492063	NM_147193		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	79	0.036172161172161175	77	0.1565040650406504	2	0.0055248618784530384	0	0.0	0	0.0	A	16.69	3.192807	0.58017	0.097678	4.67E-4	ENSG00000174332	ENST00000312233	T	0.10573	2.86	5.07	2.43	0.29744	.	0.105911	0.41605	N	0.000847	T	0.00039	0.0001	L	0.29908	0.895	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.39313	-0.9620	9	0.02654	T	1	.	7.8454	0.29422	0.7801:0.0:0.2199:0.0	rs34961060	157	Q8NBF1	GLIS1_HUMAN	L	157	ENSP00000309653:F157L	ENSP00000309653:F157L	F	-	1	0	GLIS1	53832695	1.000000	0.71417	0.814000	0.32528	0.822000	0.46500	2.049000	0.41288	0.888000	0.36160	0.379000	0.24179	TTT	A|0.968;G|0.032	0.032	strong		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		G	54060107	A	G	54060107	3	3	22	1	0	0	0	0	1	0	0	0	6445	72	3	3	1425	3	GLIS1	1	54060107	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	501741	54060107	195190514	361	5469										
DIO1	1733	hgsc.bcm.edu	37	chr1	54359922	54359922	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgtggctgaagaggctCtgggtgctcttggaggtggc	20	7	2	2	rs2294510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54359922C>T	ENST00000361921.3	+	1	63	c.39C>T	c.(37-39)ctC>ctT	p.L13L	DIO1_ENST00000322679.6_Silent_p.L13L|DIO1_ENST00000525202.1_Silent_p.L13L|DIO1_ENST00000534069.1_Intron|DIO1_ENST00000532493.1_Silent_p.L13L|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Silent_p.L13L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	13					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TGAAGAGGCTCTGGGTGCTCT	0.577													C|||	510	0.101837	0.236	0.0548	5008	,	,		18471	0.1071		0.0408	False		,,,				2504	0.0112				p.L13L		Atlas-SNP	.											.	DIO1	66	.	0			c.C39T						PASS	.	C	,,,	933,3473	355.6+/-313.1	95,743,1365	89	79	82		39,39,39,39	-0.2	0.9	1	dbSNP_100	82	367,8233	121.8+/-180.9	12,343,3945	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIO1	NM_000792.5,NM_001039715.1,NM_001039716.1,NM_213593.3	,,,	107,1086,5310	TT,TC,CC		4.2674,21.1757,9.9954	,,,	13/250,13/202,13/162,13/186	54359922	1300,11706	2203	4300	6503	SO:0001819	synonymous_variant	1733	exon1			GAGGCTCTGGGTG		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.39C>T	1.37:g.54359922C>T		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	241	117	0.485477	NM_001039715	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	CCDS41339.1																																																																																			C|0.898;T|0.102	0.102	strong		0.577	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			T	54359922	C	T	54359922	2	4	22	1	0	0	0	0	0	0	0	1	4524	900	32	2		2	DIO1	1	54359922	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	299815	54359922	194890699	362	5470										
LRRC42	115353	hgsc.bcm.edu	37	chr1	54432019	54432019	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctgtgaagccacgggaGacctcggagcctagagcagc	15	11	0	3	rs2294514	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54432019G>A	ENST00000371370.3	+	8	1499	c.978G>A	c.(976-978)gaG>gaA	p.E326E	LRRC42_ENST00000319223.4_Silent_p.E326E|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	326										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AGCCACGGGAGACCTCGGAGC	0.443													A|||	1301	0.259784	0.7163	0.1254	5008	,	,		19363	0.0605		0.1451	False		,,,				2504	0.0613				p.E326E		Atlas-SNP	.											.	LRRC42	29	.	0			c.G978A						PASS	.	A		2618,1788	526.7+/-371.9	781,1056,366	90	95	93		978	1.2	0	1	dbSNP_100	93	1291,7309	759.0+/-407.5	105,1081,3114	yes	coding-synonymous	LRRC42	NM_052940.3		886,2137,3480	AA,AG,GG		15.0116,40.581,30.0554		326/429	54432019	3909,9097	2203	4300	6503	SO:0001819	synonymous_variant	115353	exon7			ACGGGAGACCTCG	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.978G>A	1.37:g.54432019G>A		Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	155	155	1	NM_052940	D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	CCDS585.1																																																																																			G|0.708;A|0.292	0.292	strong		0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		A	54432019	G	A	54432019	2	1	22	1	0	0	0	0	0	0	0	1	9000	933	33	2		2	LRRC42	1	54432019	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72097	54432019	194818602	363	5471										
CDCP2	200008	hgsc.bcm.edu	37	chr1	54610404	54610405	+	Frame_Shift_Del	DEL	TG	TG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatcagccagctgcactcTgtgttgtaggggtacagtct					rs558673127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54610404_54610405delTG	ENST00000371330.1	-	2	1008_1009	c.161_162delCA	c.(160-162)acafs	p.T54fs	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	54	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGCTGCACTCTGTGTTGTAGGG	0.559														3	0.000599042	0.0015	0.0014	5008	,	,		20392	0.0		0.0	False		,,,				2504	0.0				p.54_55del		Pindel,Atlas-Indel	.											.	CDCP2	52	.	0			c.162_163del						PASS	.			66,4200		31,4,2098						4.5	1			74	145,8109		72,1,4054	no	frameshift	CDCP2	NM_201546.2		103,5,6152	A1A1,A1R,RR		1.7567,1.5471,1.6853				211,12309				SO:0001589	frameshift_variant	200008	exon2			.		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.161_162delCA	1.37:g.54610406_54610407delTG	ENSP00000360381:p.Thr54fs	Somatic	138	.	.		WXS	Illumina HiSeq	Phase_I	119	33	0.277	NM_201546	Q6ZWJ3	Frame_Shift_Del	DEL	ENST00000371330.1	37	CCDS588.2																																																																																			.	.	none		0.559	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		-	54610405	TG	-	54610404	7	5	22	1	0	1	0	1	0	0	0	0	3094	1567	55	0	1199	0	CDCP2	1	54610404	Frame_Shift_Del	DEL	TG	TCGA-G8-6324-01A-11D-2210-10	178385	54610404	194640217	364	5472										
CYB5RL	606495	hgsc.bcm.edu	37	chr1	54661150	54661150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcttgggctgcctcccacCttgccagatctcggtgatag	12	13	1	2	rs946448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54661150C>T	ENST00000534324.1	-	1	139	c.140G>A	c.(139-141)aGg>aAg	p.R47K	CYB5RL_ENST00000537208.1_Missense_Mutation_p.R47K|CYB5RL_ENST00000419823.2_Missense_Mutation_p.R47K|CYB5RL_ENST00000287899.8_Missense_Mutation_p.R47K|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000497820.1_Missense_Mutation_p.R47K|CYB5RL_ENST00000542737.1_Missense_Mutation_p.R47K|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.R47K|CYB5RL_ENST00000401046.3_5'UTR			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	47	Oxidoreductase-like.		R -> K (in dbSNP:rs946448). {ECO:0000269|PubMed:15489334}.				cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCCTCCCACCTTGCCAGATC	0.607													C|||	1584	0.316294	0.2118	0.3213	5008	,	,		14903	0.255		0.3519	False		,,,				2504	0.4806				p.R47K		Atlas-SNP	.											.	CYB5RL	17	.	0			c.G140A						PASS	.	C	LYS/ARG	875,3219		95,685,1267	46	48	47		140	4.2	1	1	dbSNP_86	47	2866,5494		514,1838,1828	yes	missense	CYB5RL	NM_001031672.2	26	609,2523,3095	TT,TC,CC		34.2823,21.3727,30.0385	benign	47/316	54661150	3741,8713	2047	4180	6227	SO:0001583	missense	606495	exon3			TCCCACCTTGCCA		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.140G>A	1.37:g.54661150C>T	ENSP00000434343:p.Arg47Lys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	74	43	0.581081	NM_001031672	B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	669	0.30631868131868134	110	0.22357723577235772	144	0.39779005524861877	143	0.25	272	0.35883905013192613	C	20.2	3.956210	0.73902	0.213727	0.342823	ENSG00000215883	ENST00000419823;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208;ENST00000497820	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.17	4.24	0.50183	Oxidoreductase-like, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.26092	0.79	0.42558	P	0.006867999999999985	B	0.26775	0.159	B	0.24848	0.056	T	0.41088	-0.9528	8	0.29301	T	0.29	.	8.214	0.31501	0.0:0.8334:0.0:0.1666	rs946448;rs3737834;rs17390104;rs60484336;rs946448	47	Q6IPT4	NB5R5_HUMAN	K	47	ENSP00000409075:R47K;ENSP00000434343:R47K;ENSP00000287899:R47K;ENSP00000438151:R47K;ENSP00000443797:R47K;ENSP00000431157:R47K	ENSP00000287899:R47K	R	-	2	0	CYB5RL	54433738	0.172000	0.23043	1.000000	0.80357	0.997000	0.91878	0.880000	0.28159	2.689000	0.91719	0.561000	0.74099	AGG	C|0.708;T|0.292	0.292	strong		0.607	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		T	54661150	C	T	54661150	3	4	22	1	0	0	0	0	1	0	0	0	4130	681	24	2	831	2	CYB5RL	1	54661150	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50746	54661150	194589471	365	5473										
SSBP3	23648	hgsc.bcm.edu	37	chr1	54747176	54747176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggggaatgttgccaagcaCggggctcggggcagctgctg	20	9	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:54747176C>T	ENST00000371320.3	-	5	711	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	SSBP3_ENST00000417664.2_De_novo_Start_InFrame|SSBP3_ENST00000371319.3_Missense_Mutation_p.V101M|SSBP3_ENST00000357475.4_Missense_Mutation_p.V101M|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	101	Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TTGCCAAGCACGGGGCTCGGG	0.617																																					p.V101M		Atlas-SNP	.											.	SSBP3	65	.	0			c.G301A						PASS	.						16	15	15					1																	54747176		2194	4286	6480	SO:0001583	missense	23648	exon5			CAAGCACGGGGCT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.301G>A	1.37:g.54747176C>T	ENSP00000360371:p.Val101Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	105	35	0.333333	NM_145716	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555184	0.86231	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	U	0.000001	T	0.77818	0.4187	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.981;0.973	T	0.78311	-0.2253	9	0.46703	T	0.11	-0.63	18.3318	0.90271	0.0:1.0:0.0:0.0	.	101;101;101	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	M	101	.	ENSP00000350067:V101M	V	-	1	0	SSBP3	54519764	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	7.369000	0.79578	2.409000	0.81822	0.563000	0.77884	GTG	.	.	none		0.617	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		T	54747176	C	T	54747176	3	4	22	1	0	0	0	0	1	0	0	0	15180	536	19	1	921	1	SSBP3	1	54747176	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86026	54747176	194503445	366	5474										
ACOT11	26027	hgsc.bcm.edu	37	chr1	55060362	55060362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaactgcgccattcaggGcggtgagcagctgccagctg	15	13	1	1	rs1702003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55060362G>A	ENST00000371316.3	+	6	687	c.605G>A	c.(604-606)gGc>gAc	p.G202D	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.G202D	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	202			G -> D (in dbSNP:rs1702003). {ECO:0000269|Ref.4}.		fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCATTCAGGGCGGTGAGCAG	0.667													A|||	1279	0.255391	0.5371	0.1239	5008	,	,		18319	0.1825		0.0417	False		,,,				2504	0.2628				p.G202D	Ovarian(148;1440 1861 22015 32453 51933)	Atlas-SNP	.											ACOT11_ENST00000371316,colon,carcinoma,+1,2	ACOT11	105	2	0			c.G605A						PASS	.	A	ASP/GLY,ASP/GLY	1976,2430	604.7+/-390.4	466,1044,693	46	44	45		605,605	3.7	0.9	1	dbSNP_89	45	255,8345	795.5+/-407.5	4,247,4049	yes	missense,missense	ACOT11	NM_015547.3,NM_147161.3	94,94	470,1291,4742	AA,AG,GG		2.9651,44.8479,17.1536	benign,benign	202/608,202/595	55060362	2231,10775	2203	4300	6503	SO:0001583	missense	26027	exon6			TTCAGGGCGGTGA	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.605G>A	1.37:g.55060362G>A	ENSP00000360366:p.Gly202Asp	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	131	55	0.419847	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	407	0.18635531135531136	235	0.47764227642276424	41	0.1132596685082873	103	0.18006993006993008	28	0.036939313984168866	A	1.445	-0.566615	0.03910	0.448479	0.029651	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.09445	3.01;2.98	4.84	3.7	0.42460	.	0.607478	0.17188	N	0.183612	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42632	-0.9440	9	0.06494	T	0.89	-16.4542	6.0048	0.19541	0.6647:0.1772:0.1581:0.0	rs1702003;rs56926025;rs1702003	202;202	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	D	202	ENSP00000340260:G202D;ENSP00000360366:G202D	ENSP00000340260:G202D	G	+	2	0	ACOT11	54832950	0.936000	0.31750	0.917000	0.36280	0.843000	0.47879	1.962000	0.40442	0.297000	0.22615	-0.490000	0.04691	GGC	G|0.813;A|0.187	0.187	strong		0.667	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		A	55060362	G	A	55060362	3	1	22	1	0	0	0	0	1	0	0	0	149	1203	42	2	627	2	ACOT11	1	55060362	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313186	55060362	194190259	367	5475										
ACOT11	26027	hgsc.bcm.edu	37	chr1	55073630	55073630	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagggacccctatgtcatCgcgctgaggtcggtcacgct	12	14	3	1	rs78753605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55073630C>T	ENST00000371316.3	+	15	1600	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.I506I	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	506	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTATGTCATCGCGCTGAGGT	0.642													C|||	83	0.0165735	0.0605	0.0029	5008	,	,		18552	0.001		0.0	False		,,,				2504	0.0				p.I506I	Ovarian(148;1440 1861 22015 32453 51933)	Atlas-SNP	.											.	ACOT11	105	.	0			c.C1518T						PASS	.	C	,	201,4205	126.6+/-163.6	4,193,2006	93	90	91		1518,1518	-6.9	0.9	1	dbSNP_132	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACOT11	NM_015547.3,NM_147161.3	,	4,194,6305	TT,TC,CC		0.0116,4.562,1.5531	,	506/608,506/595	55073630	202,12804	2203	4300	6503	SO:0001819	synonymous_variant	26027	exon15			TGTCATCGCGCTG	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1518C>T	1.37:g.55073630C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	157	87	0.55414	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	ENST00000371316.3	37	CCDS592.1																																																																																			C|0.984;T|0.016	0.016	strong		0.642	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		T	55073630	C	T	55073630	2	4	22	1	0	0	0	0	0	0	0	1	149	874	31	1		1	ACOT11	1	55073630	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13268	55073630	194176991	368	5476										
FAM151A	338094	hgsc.bcm.edu	37	chr1	55075334	55075334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgccagccacatggccGgggaccgaaaaactcccgtg	11	15	1	0	rs201640566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55075334G>A	ENST00000302250.2	-	8	1525	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	455						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCACATGGCCGGGGACCGAAA	0.642													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0				p.P455P		Atlas-SNP	.											.	FAM151A	58	.	0			c.C1365T						PASS	.						32	35	34					1																	55075334		2202	4300	6502	SO:0001819	synonymous_variant	338094	exon8			ATGGCCGGGGACC	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1365C>T	1.37:g.55075334G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_176782	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	CCDS594.1																																																																																			G|1.000;A|0.000	0.000	strong		0.642	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		A	55075334	G	A	55075334	2	1	22	1	0	0	0	0	0	0	0	1	5458	1103	39	1		1	FAM151A	1	55075334	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1704	55075334	194175287	369	5477										
FAM151A	338094	hgsc.bcm.edu	37	chr1	55075452	55075452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggagggctgcgggctccGctatttgcaaatggatgccc	15	12	0	0	rs1368883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55075452G>A	ENST00000302250.2	-	8	1407	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	416			A -> V (in dbSNP:rs1368883). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGCGGGCTCCGCTATTTGCAA	0.617													G|||	1514	0.302316	0.1959	0.3588	5008	,	,		18263	0.1815		0.5388	False		,,,				2504	0.2873				p.A416V		Atlas-SNP	.											.	FAM151A	58	.	0			c.C1247T						PASS	.	G	,,VAL/ALA	1097,3309	395.4+/-329.6	137,823,1243	43	46	45		,,1247	2.3	0	1	dbSNP_88	45	4479,4121	588.7+/-392.4	1148,2183,969	yes	intron,utr-3,missense	ACOT11,FAM151A	NM_015547.3,NM_147161.3,NM_176782.2	,,64	1285,3006,2212	AA,AG,GG		47.9186,24.8979,42.8725	,,benign	,,416/586	55075452	5576,7430	2203	4300	6503	SO:0001583	missense	338094	exon8			GGCTCCGCTATTT	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1247C>T	1.37:g.55075452G>A	ENSP00000306888:p.Ala416Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_176782	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	CCDS594.1	720	0.32967032967032966	82	0.16666666666666666	147	0.40607734806629836	91	0.1590909090909091	400	0.5277044854881267	G	1.583	-0.531093	0.04112	0.248979	0.520814	ENSG00000162391	ENST00000302250	T	0.11385	2.78	4.17	2.26	0.28386	.	0.606935	0.15337	N	0.267684	T	0.00012	0.0000	L	0.31294	0.92	0.80722	P	0.0	B	0.25206	0.12	B	0.23275	0.045	T	0.39251	-0.9623	9	0.56958	D	0.05	-1.9697	7.2099	0.25927	0.1908:0.0:0.8092:0.0	rs1368883;rs1622365;rs12729963;rs17855486;rs1368883	416	Q8WW52	F151A_HUMAN	V	416	ENSP00000306888:A416V	ENSP00000306888:A416V	A	-	2	0	FAM151A	54848040	0.001000	0.12720	0.002000	0.10522	0.034000	0.12701	0.284000	0.18864	0.682000	0.31407	0.655000	0.94253	GCG	G|0.630;A|0.370	0.370	strong		0.617	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		A	55075452	G	A	55075452	3	1	22	1	0	0	0	0	1	0	0	0	5458	1087	38	1	514	1	FAM151A	1	55075452	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118	55075452	194175169	370	5478										
C1orf175	374977	hgsc.bcm.edu	37	chr1	55119289	55119289	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacctccaagctgaacctGaatgtagctccagattctca	6	13	1	3	rs9332417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55119289G>C	ENST00000421030.2	+	3	975	c.690G>C	c.(688-690)ctG>ctC	p.L230L	MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Silent_p.L230L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Silent_p.L230L|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.L230L|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	230						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGCTGAACCTGAATGTAGCTC	0.453													G|||	2106	0.420527	0.2716	0.4063	5008	,	,		21481	0.5208		0.5944	False		,,,				2504	0.3497				p.L230L		Atlas-SNP	.											.	.	.	.	0			c.G690C						PASS	.	G		1415,2433		258,899,767	67	63	64		690	1.2	0	1	dbSNP_119	64	4876,3394		1435,2006,694	no	coding-synonymous	HEATR8	NM_001039464.2		1693,2905,1461	CC,CG,GG		41.0399,36.7723,48.0855		230/1324	55119289	6291,5827	1924	4135	6059	SO:0001819	synonymous_variant	374977	exon3			GAACCTGAATGTA	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.690G>C	1.37:g.55119289G>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	144	64	0.444444	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																			G|0.547;C|0.453	0.453	strong		0.453	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		C	55119289	G	C	55119289	2	2	22	1	0	0	0	0	0	0	0	1	2016	1277	45	4		4	C1orf175	1	55119289	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43837	55119289	194131332	371	5479										
C1orf175	374977	hgsc.bcm.edu	37	chr1	55119466	55119466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactccagatctgatttgagCgtgaccatcactcaagcctc	7	14	3	4	rs2304315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55119466C>T	ENST00000421030.2	+	3	1152	c.867C>T	c.(865-867)agC>agT	p.S289S	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Silent_p.S289S|MROH7_ENST00000395690.2_Silent_p.S289S|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.S289S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	289	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGATTTGAGCGTGACCATCA	0.522													C|||	335	0.066893	0.1354	0.0447	5008	,	,		20161	0.1032		0.0109	False		,,,				2504	0.0102				p.S289S		Atlas-SNP	.											HEATR8_ENST00000421030,caecum,carcinoma,0,2	.	.	2	0			c.C867T						PASS	.	C		429,3743		14,401,1671	83	82	83		867	-2.6	0	1	dbSNP_100	83	27,8411		0,27,4192	no	coding-synonymous	HEATR8	NM_001039464.2		14,428,5863	TT,TC,CC		0.32,10.2828,3.6162		289/1324	55119466	456,12154	2086	4219	6305	SO:0001819	synonymous_variant	374977	exon3			TTTGAGCGTGACC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.867C>T	1.37:g.55119466C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																			C|0.935;T|0.065	0.065	strong		0.522	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		T	55119466	C	T	55119466	2	4	22	1	0	0	0	0	0	0	0	1	2016	767	27	1		1	C1orf175	1	55119466	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	177	55119466	194131155	372	5480										
TTC4	7268	hgsc.bcm.edu	37	chr1	55188382	55188382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaactgaaacactttgcCgaggccgtgaactggtgtga	13	9	0	3	rs11550481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55188382C>T	ENST00000371281.3	+	5	591	c.504C>T	c.(502-504)gcC>gcT	p.A168A	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	168								p.A168A(1)		breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AACACTTTGCCGAGGCCGTGA	0.478													T|||	648	0.129393	0.1694	0.0288	5008	,	,		20579	0.128		0.0616	False		,,,				2504	0.2178				p.A168A		Atlas-SNP	.											TTC4,NS,carcinoma,0,1	TTC4	21	1	1	Substitution - coding silent(1)	stomach(1)	c.C504T						PASS	.	T		796,3610	751.5+/-412.2	81,634,1488	143	142	142		504	-10.3	0.5	1	dbSNP_120	142	436,8164	800.0+/-407.4	10,416,3874	no	coding-synonymous	TTC4	NM_004623.4		91,1050,5362	TT,TC,CC		5.0698,18.0663,9.4726		168/388	55188382	1232,11774	2203	4300	6503	SO:0001819	synonymous_variant	7268	exon5			CTTTGCCGAGGCC		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.504C>T	1.37:g.55188382C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	CCDS596.1																																																																																			C|0.892;T|0.108	0.108	strong		0.478	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		T	55188382	C	T	55188382	2	4	22	1	0	0	0	0	0	0	0	1	16707	639	23	1		1	TTC4	1	55188382	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68916	55188382	194062239	373	5481										
TTC4	7268	hgsc.bcm.edu	37	chr1	55188437	55188437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagatgccaaagagaagaagCttctggaaatgagggctaaa	12	5	1	4	rs62000412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55188437C>T	ENST00000371281.3	+	5	646	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	187										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AGAGAAGAAGCTTCTGGAAAT	0.463													C|||	65	0.0129792	0.0484	0.0014	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.0				p.L187F		Atlas-SNP	.											.	TTC4	21	.	0			c.C559T						PASS	.	C	PHE/LEU	192,4214	121.7+/-159.2	4,184,2015	122	115	117		559	5.4	1	1	dbSNP_129	117	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TTC4	NM_004623.4	22	4,186,6313	TT,TC,CC		0.0233,4.3577,1.4916	probably-damaging	187/388	55188437	194,12812	2203	4300	6503	SO:0001583	missense	7268	exon5			AAGAAGCTTCTGG		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.559C>T	1.37:g.55188437C>T	ENSP00000360329:p.Leu187Phe	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	CCDS596.1	21	0.009615384615384616	21	0.042682926829268296	0	0.0	0	0.0	0	0.0	C	21.3	4.125911	0.77436	0.043577	2.33E-4	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.20200	2.09	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.13841	0.0335	M	0.82716	2.605	0.58432	D	0.999996	P;D	0.64830	0.908;0.994	P;P	0.51945	0.514;0.685	T	0.06320	-1.0833	9	0.48119	T	0.1	-11.5851	18.1602	0.89706	0.0:1.0:0.0:0.0	rs62000412	187;198	O95801;Q5TA95	TTC4_HUMAN;.	F	187;198	ENSP00000360329:L187F	ENSP00000360329:L187F	L	+	1	0	TTC4	54961025	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.354000	0.52254	2.703000	0.92315	0.460000	0.39030	CTT	C|0.986;T|0.014	0.014	strong		0.463	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		T	55188437	C	T	55188437	3	4	22	1	0	0	0	0	1	0	0	0	16707	797	28	2	577	2	TTC4	1	55188437	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55	55188437	194062184	374	5482										
TTC4	7268	hgsc.bcm.edu	37	chr1	55197320	55197320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggcctgtgctctttctGtacccagagtatgcccagtc	10	13	2	1	rs1062700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55197320G>A	ENST00000371281.3	+	7	930	c.843G>A	c.(841-843)ctG>ctA	p.L281L	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	281										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TGCTCTTTCTGTACCCAGAGT	0.557													G|||	248	0.0495208	0.0651	0.0216	5008	,	,		18066	0.004		0.0606	False		,,,				2504	0.0838				p.L281L		Atlas-SNP	.											.	TTC4	21	.	0			c.G843A						PASS	.	G		311,4095	166.5+/-197.7	16,279,1908	79	69	72		843	0.9	1	1	dbSNP_86	72	399,8201	126.8+/-185.2	7,385,3908	no	coding-synonymous	TTC4	NM_004623.4		23,664,5816	AA,AG,GG		4.6395,7.0586,5.459		281/388	55197320	710,12296	2203	4300	6503	SO:0001819	synonymous_variant	7268	exon7			CTTTCTGTACCCA		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.843G>A	1.37:g.55197320G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	76	29	0.381579	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	CCDS596.1																																																																																			G|0.946;A|0.054	0.054	strong		0.557	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		A	55197320	G	A	55197320	2	1	22	1	0	0	0	0	0	0	0	1	16707	1364	48	2		2	TTC4	1	55197320	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8883	55197320	194053301	375	5483										
C1orf177	163747	hgsc.bcm.edu	37	chr1	55272743	55272743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccccatactccacgcgttAttctacccaagtggtgagtt	9	13	1	1	rs115158797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55272743A>G	ENST00000371273.3	+	2	194	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	C1orf177_ENST00000358193.3_Missense_Mutation_p.Y60C	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	60										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCCACGCGTTATTCTACCCAA	0.572													A|||	49	0.00978435	0.0363	0.0014	5008	,	,		16140	0.0		0.0	False		,,,				2504	0.0				p.Y60C		Atlas-SNP	.											.	C1orf177	36	.	0			c.A179G						PASS	.	A	CYS/TYR,CYS/TYR	127,4279	93.9+/-132.6	2,123,2078	205	186	192		179,179	1.3	0	1	dbSNP_132	192	0,8600		0,0,4300	yes	missense,missense	C1orf177	NM_001110533.1,NM_152607.2	194,194	2,123,6378	GG,GA,AA		0.0,2.8824,0.9765	possibly-damaging,possibly-damaging	60/419,60/415	55272743	127,12879	2203	4300	6503	SO:0001583	missense	163747	exon2			CGCGTTATTCTAC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.179A>G	1.37:g.55272743A>G	ENSP00000360320:p.Tyr60Cys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	159	78	0.490566	NM_001110533	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	A	10.43	1.348922	0.24426	0.028824	0.0	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26518	1.73;1.73	3.72	1.32	0.21799	.	1.288330	0.05479	N	0.554456	T	0.06462	0.0166	N	0.25647	0.755	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.53313	0.723;0.723	T	0.08249	-1.0731	10	0.39692	T	0.17	.	3.1969	0.06636	0.498:0.0:0.108:0.394	.	60;60	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	C	60	ENSP00000350924:Y60C;ENSP00000360320:Y60C	ENSP00000350924:Y60C	Y	+	2	0	C1orf177	55045331	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	1.170000	0.31883	0.264000	0.21851	0.379000	0.24179	TAT	A|0.989;G|0.011	0.011	strong		0.572	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		G	55272743	A	G	55272743	3	3	22	1	0	0	0	0	1	0	0	0	2017	449	16	2	185	2	C1orf177	1	55272743	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75423	55272743	193977878	376	5484										
C1orf177	163747	hgsc.bcm.edu	37	chr1	55277553	55277553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggaaccggtctcattcCgagggcctcatgtgcaggat	13	12	2	0	rs61691036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55277553C>T	ENST00000371273.3	+	5	582	c.567C>T	c.(565-567)tcC>tcT	p.S189S	C1orf177_ENST00000358193.3_Silent_p.S189S	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	189										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGTCTCATTCCGAGGGCCTCA	0.617													C|||	73	0.0145767	0.0522	0.0029	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.002				p.S189S		Atlas-SNP	.											.	C1orf177	36	.	0			c.C567T						PASS	.	C	,	248,4158	145.0+/-179.8	10,228,1965	75	70	71		567,567	-0.4	0.9	1	dbSNP_129	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	C1orf177	NM_001110533.1,NM_152607.2	,	10,230,6263	TT,TC,CC		0.0233,5.6287,1.9222	,	189/419,189/415	55277553	250,12756	2203	4300	6503	SO:0001819	synonymous_variant	163747	exon5			TCATTCCGAGGGC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.567C>T	1.37:g.55277553C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	214	112	0.523364	NM_001110533	B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	CCDS44153.1																																																																																			C|0.979;T|0.021	0.021	strong		0.617	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		T	55277553	C	T	55277553	2	4	22	1	0	0	0	0	0	0	0	1	2017	639	23	1		1	C1orf177	1	55277553	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4810	55277553	193973068	377	5485										
C1orf177	163747	hgsc.bcm.edu	37	chr1	55307501	55307501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacaccatttactaagggAaagtgccctccaactgtgga	8	11	1	0	rs41297871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55307501A>G	ENST00000371273.3	+	10	1227	c.1212A>G	c.(1210-1212)ggA>ggG	p.G404G	C1orf177_ENST00000358193.3_3'UTR	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	404										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ttactaagggaaagtgccctc	0.468													G|||	1154	0.230431	0.1498	0.281	5008	,	,		21304	0.4405		0.2316	False		,,,				2504	0.0859				p.G404G		Atlas-SNP	.											.	C1orf177	36	.	0			c.A1212G						PASS	.	G	,	237,1147		17,203,472	101	81	87		1212,	-3	0.3	1	dbSNP_127	87	653,2529		66,521,1004	no	coding-synonymous,utr-3	C1orf177	NM_001110533.1,NM_152607.2	,	83,724,1476	GG,GA,AA		20.5217,17.1243,19.4919	,	404/419,	55307501	890,3676	692	1591	2283	SO:0001819	synonymous_variant	163747	exon10			TAAGGGAAAGTGC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.1212A>G	1.37:g.55307501A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_001110533	B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	CCDS44153.1																																																																																			A|0.737;G|0.263	0.263	strong		0.468	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		G	55307501	A	G	55307501	2	3	22	1	0	0	0	0	0	0	0	1	2017	233	9	2		2	C1orf177	1	55307501	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29948	55307501	193943120	378	5486										
PCSK9	255738	hgsc.bcm.edu	37	chr1	55523855	55523855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacccccaacctggtggccGccctgccccccagcacccat	8	22	0	1	rs28362263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55523855G>A	ENST00000302118.5	+	8	1617	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	443			A -> T (polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol; more extensive cleavage by furin and PCSK5; dbSNP:rs28362263). {ECO:0000269|PubMed:16465619, ECO:0000269|Ref.4}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCTGGTGGCCGCCCTGCCCCC	0.622													G|||	133	0.0265575	0.0961	0.0086	5008	,	,		17784	0.0		0.0	False		,,,				2504	0.0				p.A443T	Pancreas(137;1454 1827 5886 22361 42375)	Atlas-SNP	.											.	PCSK9	76	.	0			c.G1327A						PASS	.	G	THR/ALA	369,4037	177.6+/-206.5	17,335,1851	37	37	37		1327	-6.2	0.1	1	dbSNP_125	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCSK9	NM_174936.3	58	17,336,6150	AA,AG,GG		0.0116,8.3749,2.8448	benign	443/693	55523855	370,12636	2203	4300	6503	SO:0001583	missense	255738	exon8			GTGGCCGCCCTGC	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1327G>A	1.37:g.55523855G>A	ENSP00000303208:p.Ala443Thr	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	168	91	0.541667	NM_174936	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	47	0.02152014652014652	45	0.09146341463414634	2	0.0055248618784530384	0	0.0	0	0.0	G	13.27	2.187335	0.38609	0.083749	1.16E-4	ENSG00000169174	ENST00000302118	T	0.70631	-0.5	4.72	-6.25	0.02039	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.470801	0.19105	N	0.122587	T	0.01730	0.0055	N	0.14661	0.345	0.80722	P	0.0	B	0.11235	0.004	B	0.06405	0.002	T	0.03922	-1.0992	9	0.21540	T	0.41	-0.8697	4.4821	0.11773	0.2381:0.1019:0.5586:0.1015	rs28362263	443	Q8NBP7	PCSK9_HUMAN	T	443	ENSP00000303208:A443T	ENSP00000303208:A443T	A	+	1	0	PCSK9	55296443	0.001000	0.12720	0.065000	0.19835	0.846000	0.48090	0.968000	0.29357	-0.694000	0.05113	-0.311000	0.09066	GCC	G|0.975;A|0.025	0.025	strong		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		A	55523855	G	A	55523855	3	1	22	1	0	0	0	0	1	0	0	0	11606	1087	38	1	1357	1	PCSK9	1	55523855	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	216354	55523855	193726766	379	5487										
USP24	23358	hgsc.bcm.edu	37	chr1	55545240	55545240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaggtttcccttcagacaTgaacaacaaggcttctacct	7	11	2	2	rs116203669	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:55545240T>C	ENST00000294383.6	-	60	7170	c.7171A>G	c.(7171-7173)Atg>Gtg	p.M2391V	USP24_ENST00000407756.1_Missense_Mutation_p.M2231V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2391					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						CCTTCAGACATGAACAACAAG	0.433													T|||	23	0.00459265	0.0174	0.0	5008	,	,		20623	0.0		0.0	False		,,,				2504	0.0				p.M2391V		Atlas-SNP	.											.	USP24	323	.	0			c.A7171G						PASS	.	T	VAL/MET	33,3727		0,33,1847	159	154	156		7171	-2	1	1	dbSNP_132	156	0,8242		0,0,4121	yes	missense	USP24	NM_015306.2	21	0,33,5968	CC,CT,TT		0.0,0.8777,0.275	benign	2391/2621	55545240	33,11969	1880	4121	6001	SO:0001583	missense	23358	exon60			CAGACATGAACAA	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.7171A>G	1.37:g.55545240T>C	ENSP00000294383:p.Met2391Val	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	0.334	-0.954398	0.02285	0.008777	0.0	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.01887	4.58;4.58	4.8	-1.97	0.07503	.	0.295167	0.28544	N	0.014980	T	0.00468	0.0015	N	0.02539	-0.55	0.20764	N	0.999858	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	10	0.28530	T	0.3	.	5.8291	0.18570	0.3638:0.0:0.4105:0.2258	.	2231	B7WPF4	.	V	2391;2231	ENSP00000294383:M2391V;ENSP00000385700:M2231V	ENSP00000294383:M2391V	M	-	1	0	USP24	55317828	0.985000	0.35326	0.995000	0.50966	0.984000	0.73092	0.139000	0.16036	-0.284000	0.09102	-0.691000	0.03719	ATG	T|0.996;C|0.004	0.004	strong		0.433	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55545240	T	C	55545240	3	2	22	1	0	0	0	0	1	0	0	0	17052	1464	51	2	727	2	USP24	1	55545240	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21385	55545240	193705381	380	5488										
PPAP2B	8613	hgsc.bcm.edu	37	chr1	57002627	57002627	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagagtctggacacttacCgcgaggatggcaatgacgat	13	9	1	2	rs1136164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57002627C>T	ENST00000371250.3	-	2	848	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	99					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACACTTACCGCGAGGATGG	0.453													C|||	548	0.109425	0.2337	0.0159	5008	,	,		20425	0.1756		0.0119	False		,,,				2504	0.0399				p.A99A		Atlas-SNP	.											.	PPAP2B	30	.	0			c.G297A						PASS	.	C		803,3603	322.3+/-297.6	69,665,1469	200	168	179		297	5	1	1	dbSNP_129	179	146,8454	71.6+/-134.2	2,142,4156	yes	coding-synonymous-near-splice	PPAP2B	NM_003713.4		71,807,5625	TT,TC,CC		1.6977,18.2251,7.2966		99/312	57002627	949,12057	2203	4300	6503	SO:0001630	splice_region_variant	8613	exon2			ACTTACCGCGAGG	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.297+1G>A	1.37:g.57002627C>T		Somatic	265	1	0.00377358		WXS	Illumina HiSeq	Phase_I	260	113	0.434615	NM_003713	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Silent	SNP	ENST00000371250.3	37	CCDS604.1																																																																																			C|0.922;T|0.078	0.078	strong		0.453	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713	Silent	T	57002627	C	T	57002627	5	4	22	1	0	0	0	0	0	0	1	0	12291	666	23	1	658	1	PPAP2B	1	57002627	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1457387	57002627	192247994	381	5489										
C1orf168	199920	hgsc.bcm.edu	37	chr1	57186000	57186000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacaataatctctttgtcGtactgaaatgagaaattact	6	6	1	3	rs76493848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57186000G>A	ENST00000343433.6	-	18	2057	c.1977C>T	c.(1975-1977)taC>taT	p.Y659Y		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	659										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						TCTCTTTGTCGTACTGAAATG	0.303													G|||	66	0.0131789	0.0469	0.0058	5008	,	,		15674	0.0		0.0	False		,,,				2504	0.0				p.Y659Y		Atlas-SNP	.											.	C1orf168	102	.	0			c.C1977T						PASS	.	G		207,4199	122.5+/-159.9	2,203,1998	52	52	52		1977	-0.1	0.6	1	dbSNP_132	52	3,8587	1.2+/-3.3	0,3,4292	no	coding-synonymous	C1orf168	NM_001004303.4		2,206,6290	AA,AG,GG		0.0349,4.6981,1.6159		659/729	57186000	210,12786	2203	4295	6498	SO:0001819	synonymous_variant	199920	exon18			TTTGTCGTACTGA	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.1977C>T	1.37:g.57186000G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_001004303	Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	CCDS30729.1																																																																																			G|0.987;A|0.013	0.013	strong		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		A	57186000	G	A	57186000	2	1	22	1	0	0	0	0	0	0	0	1	2012	1140	40	1		1	C1orf168	1	57186000	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	183373	57186000	192064621	382	5490										
C1orf168	199920	hgsc.bcm.edu	37	chr1	57257817	57257817	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtgggttttcccagctTtttctgatatgttgagaaat	12	5	1	2	rs2298130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57257817T>C	ENST00000343433.6	-	2	749	c.669A>G	c.(667-669)aaA>aaG	p.K223K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	223										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						TTTCCCAGCTTTTTCTGATAT	0.522													C|||	1259	0.251398	0.3601	0.1599	5008	,	,		16319	0.3542		0.1431	False		,,,				2504	0.1748				p.K223K		Atlas-SNP	.											.	C1orf168	102	.	0			c.A669G						PASS	.	C		1414,2990	651.2+/-399.2	224,966,1012	69	77	74		669	2.8	0	1	dbSNP_100	74	1191,7409	754.7+/-407.5	105,981,3214	no	coding-synonymous	C1orf168	NM_001004303.4		329,1947,4226	CC,CT,TT		13.8488,32.1072,20.0323		223/729	57257817	2605,10399	2202	4300	6502	SO:0001819	synonymous_variant	199920	exon2			CCAGCTTTTTCTG	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.669A>G	1.37:g.57257817T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	127	64	0.503937	NM_001004303	Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	CCDS30729.1																																																																																			T|0.778;C|0.222	0.222	strong		0.522	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		C	57257817	T	C	57257817	2	2	22	1	0	0	0	0	0	0	0	1	2012	1838	64	2		2	C1orf168	1	57257817	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	71817	57257817	191992804	383	5491										
C8A	731	hgsc.bcm.edu	37	chr1	57378149	57378149	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcgccagaacctgcgccGcgccttggaccagtatctga					rs1620075|rs386631447	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57378149G>T	ENST00000361249.3	+	10	1550	c.1454G>T	c.(1453-1455)cGc>cTc	p.R485L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	485	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> L (in dbSNP:rs1620075).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AACCTGCGCCGCGCCTTGGAC	0.622													G|||	682	0.136182	0.261	0.1326	5008	,	,		17760	0.0407		0.0477	False		,,,				2504	0.1595				p.R485L		Atlas-SNP	.											C8A,NS,carcinoma,+1,1	C8A	103	1	0			c.G1454T						scavenged	.	G	LEU/ARG	864,3542		90,684,1429	68	71	70		1454	0.7	0	1	dbSNP_89	70	370,8230		8,354,3938	no	missense	C8A	NM_000562.2	102	98,1038,5367	TT,TG,GG		4.3023,19.6096,9.4879	probably-damaging	485/585	57378149	1234,11772	2203	4300	6503	SO:0001583	missense	731	exon10			TGCGCCGCGCCTT	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1454G>T	1.37:g.57378149G>T	ENSP00000354458:p.Arg485Leu	Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	218	109	0.5	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	193	0.08836996336996338	97	0.19715447154471544	36	0.09944751381215469	33	0.057692307692307696	27	0.03562005277044855	G	12.54	1.968002	0.34754	0.196096	0.043023	ENSG00000157131	ENST00000361249	D	0.85484	-1.99	5.73	0.696	0.18075	Membrane attack complex component/perforin (MACPF) domain (3);	0.258044	0.41001	D	0.000972	T	0.00637	0.0021	M	0.88906	2.99	0.80722	P	0.0	P	0.45594	0.862	P	0.49922	0.626	T	0.48547	-0.9026	9	0.66056	D	0.02	-1.8617	12.4712	0.55787	0.4218:0.0:0.5782:0.0	rs1620075;rs1620075	485	P07357	CO8A_HUMAN	L	485	ENSP00000354458:R485L	ENSP00000354458:R485L	R	+	2	0	C8A	57150737	0.000000	0.05858	0.004000	0.12327	0.363000	0.29612	0.336000	0.19823	-0.331000	0.08501	-1.731000	0.00696	CGC	T|0.096;G|0.903;A|0.001	0.096	strong		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57378149	G	T	57378149	3	4	22	1	0	0	0	0	1	0	0	0	2416	1087	38	4	1492	4	C8A	1	57378149	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120332	57378149	191872472	384	5492	109	2								
C8A	731	hgsc.bcm.edu	37	chr1	57378150	57378150	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgccagaacctgcgccgCgccttggaccagtatctgat					rs386631447|rs1620073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57378150C>T	ENST00000361249.3	+	10	1551	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	485	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> L (in dbSNP:rs1620075).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACCTGCGCCGCGCCTTGGACC	0.617													C|||	683	0.136382	0.261	0.134	5008	,	,		17547	0.0407		0.0477	False		,,,				2504	0.1595				p.R485R		Atlas-SNP	.											C8A,NS,carcinoma,+2,1	C8A	103	1	0			c.C1455T						PASS	.	C		863,3543		90,683,1430	69	72	71		1455	0.6	0	1	dbSNP_89	71	370,8230		8,354,3938	no	coding-synonymous	C8A	NM_000562.2		98,1037,5368	TT,TC,CC		4.3023,19.5869,9.4802		485/585	57378150	1233,11773	2203	4300	6503	SO:0001819	synonymous_variant	731	exon10			GCGCCGCGCCTTG	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1455C>T	1.37:g.57378150C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	221	110	0.497738	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	CCDS606.1																																																																																			C|0.905;T|0.095	0.095	strong		0.617	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57378150	C	T	57378150	2	4	22	1	0	0	0	0	0	0	0	1	2416	755	27	1		1	C8A	1	57378150	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	57378150	191872471	385	5493	109	2								
C8A	731	hgsc.bcm.edu	37	chr1	57378198	57378198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcctgccgatgtgggccTtgcttcaacaatggggtgcc	13	11	1	0	rs1754533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57378198T>C	ENST00000361249.3	+	10	1599	c.1503T>C	c.(1501-1503)ccT>ccC	p.P501P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	501	EGF-like.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GATGTGGGCCTTGCTTCAACA	0.622													C|||	684	0.136581	0.2617	0.1326	5008	,	,		17969	0.0407		0.0487	False		,,,				2504	0.1595				p.P501P		Atlas-SNP	.											.	C8A	103	.	0			c.T1503C						PASS	.	C		901,3505	740.2+/-411.2	90,721,1392	91	94	93		1503	2.5	1	1	dbSNP_89	93	407,8193	801.2+/-407.4	8,391,3901	no	coding-synonymous	C8A	NM_000562.2		98,1112,5293	CC,CT,TT		4.7326,20.4494,10.0569		501/585	57378198	1308,11698	2203	4300	6503	SO:0001819	synonymous_variant	731	exon10			TGGGCCTTGCTTC	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1503T>C	1.37:g.57378198T>C		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	291	143	0.491409	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	CCDS606.1																																																																																			T|0.900;C|0.100	0.100	strong		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		C	57378198	T	C	57378198	2	2	22	1	0	0	0	0	0	0	0	1	2416	1596	56	3		3	C8A	1	57378198	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48	57378198	191872423	386	5494										
C8A	731	hgsc.bcm.edu	37	chr1	57383315	57383315	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatccaggaaaggagaagaGagtgtgacaatccagcacct	12	9	0	3	rs1342440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57383315G>C	ENST00000361249.3	+	11	1777	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	561	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.		E -> Q (in dbSNP:rs1342440).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGGAGAAGAGAGTGTGACAA	0.582													G|||	683	0.136382	0.2617	0.1326	5008	,	,		18028	0.0407		0.0477	False		,,,				2504	0.1595				p.E561Q		Atlas-SNP	.											.	C8A	103	.	0			c.G1681C						PASS	.	G	GLN/GLU	903,3503	347.7+/-309.6	90,723,1390	68	67	67		1681	2.7	1	1	dbSNP_88	67	407,8193	128.2+/-186.4	8,391,3901	yes	missense	C8A	NM_000562.2	29	98,1114,5291	CC,CG,GG		4.7326,20.4948,10.0723	benign	561/585	57383315	1310,11696	2203	4300	6503	SO:0001583	missense	731	exon11			AGAAGAGAGTGTG	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1681G>C	1.37:g.57383315G>C	ENSP00000354458:p.Glu561Gln	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	277	145	0.523466	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	226	0.10347985347985347	120	0.24390243902439024	39	0.10773480662983426	34	0.05944055944055944	33	0.04353562005277045	G	10.21	1.287220	0.23478	0.204948	0.047326	ENSG00000157131	ENST00000361249	T	0.53640	0.61	4.82	2.73	0.32206	.	0.664639	0.16161	N	0.226732	T	0.00012	0.0000	N	0.04335	-0.225	0.43942	P	0.0033919999999999506	B	0.22003	0.063	B	0.22152	0.038	T	0.27905	-1.0060	9	0.18276	T	0.48	-17.6438	8.0533	0.30591	0.0973:0.3433:0.5594:0.0	rs1342440;rs1628730;rs52814302;rs60984479;rs1342440	561	P07357	CO8A_HUMAN	Q	561	ENSP00000354458:E561Q	ENSP00000354458:E561Q	E	+	1	0	C8A	57155903	0.989000	0.36119	1.000000	0.80357	0.865000	0.49528	1.024000	0.30077	1.199000	0.43173	0.563000	0.77884	GAG	G|0.901;C|0.099	0.099	strong		0.582	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		C	57383315	G	C	57383315	3	2	22	1	0	0	0	0	1	0	0	0	2416	943	33	4	1723	4	C8A	1	57383315	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5117	57383315	191867306	387	5495										
C8B	732	hgsc.bcm.edu	37	chr1	57415310	57415310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaagttcaaatattccaGgtattttaaaaccaaaactg	5	8	1	0	rs12085435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:57415310G>A	ENST00000371237.4	-	6	848	c.782C>T	c.(781-783)cCt>cTt	p.P261L	C8B_ENST00000535057.1_Missense_Mutation_p.P199L|C8B_ENST00000543257.1_Missense_Mutation_p.P209L	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	261	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		P -> L (in dbSNP:rs12085435).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAATATTCCAGGTATTTTAAA	0.348													G|||	211	0.0421326	0.0575	0.0375	5008	,	,		18532	0.0		0.0547	False		,,,				2504	0.0552				p.P261L		Atlas-SNP	.											.	C8B	107	.	0			c.C782T						PASS	.	G	LEU/PRO	286,4120	158.1+/-190.9	8,270,1925	123	124	124		782	0.9	0	1	dbSNP_120	124	478,8122	140.1+/-196.7	14,450,3836	yes	missense	C8B	NM_000066.2	98	22,720,5761	AA,AG,GG		5.5581,6.4911,5.8742	benign	261/592	57415310	764,12242	2203	4300	6503	SO:0001583	missense	732	exon6			ATTCCAGGTATTT	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.782C>T	1.37:g.57415310G>A	ENSP00000360281:p.Pro261Leu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	140	56	0.4	NM_000066	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	92	0.04212454212454213	34	0.06910569105691057	18	0.049723756906077346	0	0.0	40	0.052770448548812667	G	10.43	1.347429	0.24426	0.064911	0.055581	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27557	1.84;1.85;1.66	5.19	0.854	0.19007	Membrane attack complex component/perforin (MACPF) domain (1);	2.075460	0.02088	N	0.052888	T	0.03011	0.0089	M	0.63428	1.95	0.45594	P	0.001466999999999996	B;B;B	0.15141	0.007;0.012;0.002	B;B;B	0.16289	0.015;0.015;0.002	T	0.17107	-1.0380	9	0.35671	T	0.21	0.0672	9.3642	0.38215	0.0677:0.0:0.5616:0.3708	rs12085435;rs52790403;rs12085435	209;199;261	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	L	261;209;199	ENSP00000360281:P261L;ENSP00000442548:P209L;ENSP00000440113:P199L	ENSP00000360281:P261L	P	-	2	0	C8B	57187898	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	0.513000	0.22770	0.222000	0.20900	-0.293000	0.09583	CCT	G|0.944;A|0.056	0.056	strong		0.348	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57415310	G	A	57415310	3	1	22	1	0	0	0	0	1	0	0	0	2417	1000	35	2	1021	2	C8B	1	57415310	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31995	57415310	191835311	388	5496										
TACSTD2	4070	hgsc.bcm.edu	37	chr1	59041940	59041940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactttctccggttggtgaTcaccaggacggccatgccgg	13	13	2	1	rs114373153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:59041940T>C	ENST00000371225.2	-	1	1226	c.889A>G	c.(889-891)Atc>Gtc	p.I297V		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	297					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGGTTGGTGATCACCAGgacg	0.622													T|||	149	0.0297524	0.1082	0.0043	5008	,	,		14669	0.0		0.003	False		,,,				2504	0.0				p.I297V		Atlas-SNP	.											.	TACSTD2	6	.	0			c.A889G						PASS	.	T	VAL/ILE	398,4008	195.0+/-219.7	18,362,1823	50	46	47		889	1	0.8	1	dbSNP_132	47	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TACSTD2	NM_002353.2	29	18,368,6117	CC,CT,TT		0.0698,9.0331,3.1063	benign	297/324	59041940	404,12602	2203	4300	6503	SO:0001583	missense	4070	exon1			TGGTGATCACCAG	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.889A>G	1.37:g.59041940T>C	ENSP00000360269:p.Ile297Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	61	0.580952	NM_002353	Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	CCDS609.1	61	0.027930402930402932	58	0.11788617886178862	3	0.008287292817679558	0	0.0	0	0.0	T	3.973	-0.008046	0.07773	0.090331	6.98E-4	ENSG00000184292	ENST00000371225	T	0.76448	-1.02	4.59	0.995	0.19838	.	0.178739	0.48286	N	0.000189	T	0.00936	0.0031	N	0.12422	0.21	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.01071	-1.1461	10	0.11182	T	0.66	-9.0532	3.5124	0.07713	0.1616:0.2884:0.0:0.5501	.	297	P09758	TACD2_HUMAN	V	297	ENSP00000360269:I297V	ENSP00000360269:I297V	I	-	1	0	TACSTD2	58814528	0.005000	0.15991	0.797000	0.32132	0.803000	0.45373	-0.133000	0.10451	0.004000	0.14682	0.533000	0.62120	ATC	T|0.965;C|0.035	0.035	strong		0.622	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		C	59041940	T	C	59041940	3	2	22	1	0	0	0	0	1	0	0	0	15505	1435	50	2	86	2	TACSTD2	1	59041940	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1626630	59041940	190208681	389	5497										
TACSTD2	4070	hgsc.bcm.edu	37	chr1	59042181	59042181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcatcgccgatatccacGtcaccggcggccttctgaga	12	15	2	1	rs14008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:59042181G>T	ENST00000371225.2	-	1	985	c.648C>A	c.(646-648)gaC>gaA	p.D216E		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	216			D -> E (in dbSNP:rs14008). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8382772}.		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGATATCCACGTCACCGGCGG	0.647													G|||	787	0.157149	0.3449	0.0533	5008	,	,		14915	0.1379		0.0497	False		,,,				2504	0.1074				p.D216E		Atlas-SNP	.											.	TACSTD2	6	.	0			c.C648A						PASS	.	G	GLU/ASP	1358,3034		216,926,1054	14	17	16		648	0.2	1	1	dbSNP_52	16	579,8011		27,525,3743	yes	missense	TACSTD2	NM_002353.2	45	243,1451,4797	TT,TG,GG		6.7404,30.9199,14.9207	benign	216/324	59042181	1937,11045	2196	4295	6491	SO:0001583	missense	4070	exon1			ATCCACGTCACCG	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.648C>A	1.37:g.59042181G>T	ENSP00000360269:p.Asp216Glu	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	95	53	0.557895	NM_002353	Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	CCDS609.1	273	0.125	135	0.27439024390243905	19	0.052486187845303865	82	0.14335664335664336	37	0.048812664907651716	G	8.456	0.854221	0.17106	0.309199	0.067404	ENSG00000184292	ENST00000371225	T	0.77489	-1.1	4.64	0.165	0.14995	.	0.406641	0.24611	N	0.037056	T	0.00012	0.0000	N	0.16098	0.37	0.35294	P	0.21758299999999997	B	0.21520	0.057	B	0.17979	0.02	T	0.10086	-1.0645	9	0.31617	T	0.26	-12.9943	5.1262	0.14886	0.3106:0.2655:0.4239:0.0	rs14008;rs232837;rs481082;rs59139961;rs14008	216	P09758	TACD2_HUMAN	E	216	ENSP00000360269:D216E	ENSP00000360269:D216E	D	-	3	2	TACSTD2	58814769	0.969000	0.33509	1.000000	0.80357	0.193000	0.23685	-0.111000	0.10807	0.146000	0.19002	0.561000	0.74099	GAC	G|0.865;T|0.135	0.135	strong		0.647	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		T	59042181	G	T	59042181	3	4	22	1	0	0	0	0	1	0	0	0	15505	1136	40	4	327	4	TACSTD2	1	59042181	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	241	59042181	190208440	390	5498										
FGGY	55277	hgsc.bcm.edu	37	chr1	59787350	59787350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaccagccaattaagaaTtgggagccccagttcaacca	9	12	1	2	rs835409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:59787350T>G	ENST00000303721.7	+	2	303	c.129T>G	c.(127-129)aaT>aaG	p.N43K	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.N43K|FGGY_ENST00000371218.4_Missense_Mutation_p.N43K	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	43			N -> K (in dbSNP:rs835409).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.N43K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAATTAAGAATTGGGAGCCCC	0.547													G|||	2340	0.467252	0.5477	0.4078	5008	,	,		18632	0.4782		0.3509	False		,,,				2504	0.5092				p.N43K		Atlas-SNP	.											FGGY_ENST00000303721,NS,carcinoma,0,1	FGGY	99	1	1	Substitution - Missense(1)	stomach(1)	c.T129G						PASS	.	G	LYS/ASN,LYS/ASN	1612,1524		406,800,362	59	57	57		129,129	0.1	0	1	dbSNP_86	57	2424,4738		428,1568,1585	yes	missense,missense	FGGY	NM_001113411.1,NM_018291.3	94,94	834,2368,1947	GG,GT,TT		33.8453,48.5969,39.1921	benign,benign	43/576,43/552	59787350	4036,6262	1568	3581	5149	SO:0001583	missense	55277	exon2			TAAGAATTGGGAG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.129T>G	1.37:g.59787350T>G	ENSP00000305922:p.Asn43Lys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	215	97	0.451163	NM_001113411	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	983	0.4500915750915751	276	0.5609756097560976	149	0.4116022099447514	278	0.486013986013986	280	0.36939313984168864	G	10.43	1.348245	0.24426	0.514031	0.338453	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.2	0.0513	0.14297	Carbohydrate kinase, FGGY, N-terminal (1);	0.376195	0.26567	N	0.023650	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.9999999582564	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	0.44697	-0.9311	8	.	.	.	-0.5346	1.3217	0.02117	0.4209:0.1012:0.2026:0.2753	rs835409;rs1692529;rs3738173;rs60573002	43;43;43;43	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	K	43	ENSP00000406607:N43K;ENSP00000360262:N43K;ENSP00000305922:N43K;ENSP00000360256:N43K	.	N	+	3	2	FGGY	59559938	0.000000	0.05858	0.030000	0.17652	0.980000	0.70556	-1.274000	0.02820	-0.384000	0.07845	-0.121000	0.15023	AAT	T|0.565;G|0.435	0.435	strong		0.547	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		G	59787350	T	G	59787350	3	3	22	1	0	0	0	0	1	0	0	0	5871	1490	52	5	131	5	FGGY	1	59787350	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	745169	59787350	189463271	391	5499										
NFIA	4774	hgsc.bcm.edu	37	chr1	61869783	61869783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttcctgcagcaagtccGcatgcaacaccatcgactct	6	15	2	0	rs2236059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:61869783G>A	ENST00000403491.3	+	8	1567	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	NFIA_ENST00000371187.3_Silent_p.P361P|NFIA_ENST00000357977.5_Silent_p.P9P|NFIA_ENST00000371185.2_Silent_p.P339P|NFIA_ENST00000407417.3_Silent_p.P353P|NFIA_ENST00000371189.4_Silent_p.P406P|NFIA_ENST00000371184.2_Silent_p.P232P|NFIA_ENST00000371191.1_Silent_p.P384P|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Silent_p.P318P	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	361					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CAGCAAGTCCGCATGCAACAC	0.483													G|||	1772	0.353834	0.289	0.3761	5008	,	,		19329	0.5625		0.2853	False		,,,				2504	0.2812				p.P406P		Atlas-SNP	.											.	NFIA	76	.	0			c.G1218A						PASS	.	G	,,,	1259,3147	433.3+/-343.5	179,901,1123	175	160	165		1083,1059,1218,1083	-10.5	0.6	1	dbSNP_98	165	2299,6301	387.1+/-342.1	331,1637,2332	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFIA	NM_001134673.3,NM_001145511.1,NM_001145512.1,NM_005595.4	,,,	510,2538,3455	AA,AG,GG		26.7326,28.5747,27.3566	,,,	361/510,353/502,406/555,361/499	61869783	3558,9448	2203	4300	6503	SO:0001819	synonymous_variant	4774	exon9			AAGTCCGCATGCA	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1083G>A	1.37:g.61869783G>A		Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	289	142	0.491349	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Silent	SNP	ENST00000403491.3	37	CCDS44156.1																																																																																			G|0.699;A|0.301	0.301	strong		0.483	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		A	61869783	G	A	61869783	2	1	22	1	0	0	0	0	0	0	0	1	10370	1074	38	1		1	NFIA	1	61869783	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2082433	61869783	187380838	392	5500										
TM2D1	83941	hgsc.bcm.edu	37	chr1	62190780	62190780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagacggaccagacggccAggcggccgccatcttggaga	15	13	1	3	rs200054903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:62190780A>G	ENST00000606498.1	-	1	33	c.13T>C	c.(13-15)Tgg>Cgg	p.W5R	TM2D1_ENST00000294613.5_Missense_Mutation_p.W5R|TM2D1_ENST00000371180.2_Missense_Mutation_p.W67R|TM2D1_ENST00000371177.2_Missense_Mutation_p.W5R			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CCAGACGGCCAGGCGGCCGCC	0.652													A|||	31	0.0061901	0.0219	0.0029	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.0				p.W5R		Atlas-SNP	.											TM2D1_ENST00000371177,right_upper_lobe,carcinoma,+1,3	TM2D1	37	3	0			c.T13C						PASS	.	A	ARG/TRP	54,3760		0,54,1853	35	41	39		13	-6	0	1		39	0,8178		0,0,4089	no	missense	TM2D1	NM_032027.2	101	0,54,5942	GG,GA,AA		0.0,1.4158,0.4503	benign	5/208	62190780	54,11938	1907	4089	5996	SO:0001583	missense	83941	exon1			ACGGCCAGGCGGC	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.13T>C	1.37:g.62190780A>G	ENSP00000475700:p.Trp5Arg	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	57	34	0.596491	NM_032027	A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37		.	.	.	.	.	.	.	.	.	.	A	13.04	2.117243	0.37339	0.014158	0.0	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	-5.98	0.02220	.	1.041710	0.07590	N	0.921834	T	0.17789	0.0427	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	9	0.72032	D	0.01	3.1902	0.4995	0.00577	0.1994:0.2683:0.1696:0.3628	.	5	Q9BX74	TM2D1_HUMAN	R	67;5;5;5	.	ENSP00000294613:W5R	W	-	1	0	TM2D1	61963368	0.061000	0.20836	0.000000	0.03702	0.034000	0.12701	-0.222000	0.09190	-0.981000	0.03520	0.379000	0.24179	TGG	.	.	weak		0.652	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		G	62190780	A	G	62190780	3	3	22	1	0	0	0	0	1	0	0	0	15960	188	7	3	634	3	TM2D1	1	62190780	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	320997	62190780	187059841	393	5501										
INADL	10207	hgsc.bcm.edu	37	chr1	62288730	62288730	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatacattgggtctcctacaGccagaagatgagctgcttga	11	9	1	4	rs1286812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:62288730G>C	ENST00000371158.2	+	15	1911	c.1797G>C	c.(1795-1797)caG>caC	p.Q599H	INADL_ENST00000316485.6_Missense_Mutation_p.Q599H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	599	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.		Q -> H (in dbSNP:rs1286812).		cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCTCCTACAGCCAGAAGATG	0.428													G|||	61	0.0121805	0.0454	0.0014	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.0				p.Q599H		Atlas-SNP	.											.	INADL	179	.	0			c.G1797C						PASS	.	G	HIS/GLN	95,4311	76.8+/-115.0	0,95,2108	154	140	145		1797	4	1	1	dbSNP_87	145	0,8600		0,0,4300	yes	missense	INADL	NM_176877.2	24	0,95,6408	CC,CG,GG		0.0,2.1562,0.7304	possibly-damaging	599/1802	62288730	95,12911	2203	4300	6503	SO:0001583	missense	10207	exon15			CCTACAGCCAGAA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1797G>C	1.37:g.62288730G>C	ENSP00000360200:p.Gln599His	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	219	111	0.506849	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	G	12.64	1.998539	0.35226	0.021562	0.0	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.27720	1.65;1.65	4.99	4.02	0.46733	PDZ/DHR/GLGF (4);	0.205916	0.32868	N	0.005548	T	0.16041	0.0386	L	0.35644	1.08	0.80722	D	1	D;D;P	0.65815	0.995;0.995;0.808	P;D;B	0.66716	0.894;0.946;0.442	T	0.01496	-1.1340	10	0.39692	T	0.17	.	6.7972	0.23732	0.1259:0.1743:0.6997:0.0	rs1286812;rs1286812	599;599;599	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	H	599	ENSP00000360200:Q599H;ENSP00000326199:Q599H	ENSP00000255202:Q599H	Q	+	3	2	INADL	62061318	0.999000	0.42202	1.000000	0.80357	0.416000	0.31233	0.561000	0.23515	2.322000	0.78497	0.561000	0.74099	CAG	G|0.992;C|0.008	0.008	strong		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62288730	G	C	62288730	3	2	22	1	0	0	0	0	1	0	0	0	7731	962	34	4	1851	4	INADL	1	62288730	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97950	62288730	186961891	394	5502										
INADL	10207	hgsc.bcm.edu	37	chr1	62393420	62393420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggcaaggaactgctccaCcgccaatgaaacttcctcct	8	14	0	2	rs61743112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:62393420C>T	ENST00000371158.2	+	27	3703	c.3589C>T	c.(3589-3591)Ccg>Tcg	p.P1197S	INADL_ENST00000316485.6_Missense_Mutation_p.P1197S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1197					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACTGCTCCACCGCCAATGAA	0.398													C|||	199	0.0397364	0.1415	0.0173	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0				p.P1197S		Atlas-SNP	.											.	INADL	179	.	0			c.C3589T						PASS	.	C	SER/PRO	478,3928	224.9+/-240.9	21,436,1746	102	94	97		3589	4.4	0.6	1	dbSNP_129	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	INADL	NM_176877.2	74	21,438,6044	TT,TC,CC		0.0233,10.8488,3.6906	possibly-damaging	1197/1802	62393420	480,12526	2203	4300	6503	SO:0001583	missense	10207	exon27			GCTCCACCGCCAA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3589C>T	1.37:g.62393420C>T	ENSP00000360200:p.Pro1197Ser	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	86	0.039377289377289376	81	0.16463414634146342	5	0.013812154696132596	0	0.0	0	0.0	C	11.14	1.550134	0.27652	0.108488	2.33E-4	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	T;T	0.16073	2.44;2.37	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	T	0.00144	0.0004	M	0.74258	2.255	0.09310	P	1.0	D;P;D	0.89917	0.959;0.726;1.0	P;B;D	0.79108	0.897;0.205;0.992	T	0.09335	-1.0679	9	0.08381	T	0.77	.	12.8308	0.57744	0.0:1.0:0.0:0.0	rs61743112	1197;1197;1197	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	1197	ENSP00000360200:P1197S;ENSP00000326199:P1197S	ENSP00000326199:P1197S	P	+	1	0	INADL	62166008	0.949000	0.32298	0.641000	0.29422	0.012000	0.07955	3.927000	0.56499	2.465000	0.83290	0.650000	0.86243	CCG	C|0.959;T|0.041	0.041	strong		0.398	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62393420	C	T	62393420	3	4	22	1	0	0	0	0	1	0	0	0	7731	507	18	2	3691	2	INADL	1	62393420	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104690	62393420	186857201	395	5503										
INADL	10207	hgsc.bcm.edu	37	chr1	62455982	62455982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtggtgggaattaacccGgaaggacctgctgccgcaga	14	9	0	1	rs6681983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:62455982G>A	ENST00000371158.2	+	28	3927	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Silent_p.P1271P|INADL_ENST00000543708.1_Silent_p.P55P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1271	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAATTAACCCGGAAGGACCTG	0.433													G|||	99	0.0197684	0.0711	0.0072	5008	,	,		15469	0.0		0.0	False		,,,				2504	0.0				p.P1271P		Atlas-SNP	.											.	INADL	179	.	0			c.G3813A						PASS	.	G		187,4219	119.6+/-157.3	4,179,2020	94	89	90		3813	-11.7	0	1	dbSNP_116	90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	INADL	NM_176877.2		4,182,6317	AA,AG,GG		0.0349,4.2442,1.4609		1271/1802	62455982	190,12816	2203	4300	6503	SO:0001819	synonymous_variant	10207	exon28			TAACCCGGAAGGA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3813G>A	1.37:g.62455982G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	73	34	0.465753	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																			G|0.985;A|0.015	0.015	strong		0.433	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		A	62455982	G	A	62455982	2	1	22	1	0	0	0	0	0	0	0	1	7731	1103	39	1		1	INADL	1	62455982	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62562	62455982	186794639	396	5504										
INADL	10207	hgsc.bcm.edu	37	chr1	62579907	62579907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcctgggcctgagcatCgttgggaaacggtaaagacg	17	9	0	2	rs7418709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:62579907C>T	ENST00000371158.2	+	35	4758	c.4644C>T	c.(4642-4644)atC>atT	p.I1548I	INADL_ENST00000545929.1_Silent_p.I193I|INADL_ENST00000316485.6_Silent_p.I1578I|INADL_ENST00000543708.1_Silent_p.I362I	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1548	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCCTGAGCATCGTTGGGAAAC	0.512													C|||	1490	0.297524	0.2791	0.2291	5008	,	,		18642	0.7113		0.0696	False		,,,				2504	0.1789				p.I1548I		Atlas-SNP	.											.	INADL	179	.	0			c.C4644T						PASS	.	C		1137,3269	404.9+/-333.3	157,823,1223	54	58	56		4644	-0.8	0.9	1	dbSNP_116	56	762,7838	182.0+/-230.6	39,684,3577	no	coding-synonymous	INADL	NM_176877.2		196,1507,4800	TT,TC,CC		8.8605,25.8057,14.601		1548/1802	62579907	1899,11107	2203	4300	6503	SO:0001819	synonymous_variant	10207	exon35			GAGCATCGTTGGG	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4644C>T	1.37:g.62579907C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	179	78	0.435754	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																			C|0.784;T|0.216	0.216	strong		0.512	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62579907	C	T	62579907	2	4	22	1	0	0	0	0	0	0	0	1	7731	874	31	1		1	INADL	1	62579907	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123925	62579907	186670714	397	5505										
DOCK7	85440	hgsc.bcm.edu	37	chr1	63113968	63113968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtatcatctattgacaTtgaacgtcttttaaggtcat	9	6	4	2	rs61743961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:63113968T>C	ENST00000340370.5	-	6	558	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	DOCK7_ENST00000404627.2_Missense_Mutation_p.M181V|DOCK7_ENST00000251157.5_Missense_Mutation_p.M181V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	181					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.M181V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTATTGACATTGAACGTCTT	0.308													T|||	305	0.0609026	0.1233	0.0115	5008	,	,		13493	0.128		0.001	False		,,,				2504	0.0041				p.M181V		Atlas-SNP	.											DOCK7,NS,carcinoma,0,1	DOCK7	184	1	1	Substitution - Missense(1)	stomach(1)	c.A541G						PASS	.	T	VAL/MET	484,3898	203.8+/-226.2	32,420,1739	52	53	53		541	0.8	1	1	dbSNP_129	53	8,8586	5.7+/-21.5	0,8,4289	yes	missense	DOCK7	NM_033407.2	21	32,428,6028	CC,CT,TT		0.0931,11.0452,3.7916	benign	181/2110	63113968	492,12484	2191	4297	6488	SO:0001583	missense	85440	exon6			TTGACATTGAACG		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.541A>G	1.37:g.63113968T>C	ENSP00000340742:p.Met181Val	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	148	0.06776556776556776	72	0.14634146341463414	5	0.013812154696132596	71	0.12412587412587413	0	0.0	T	6.096	0.385969	0.11524	0.110452	9.31E-4	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.17213	2.72;2.71;2.29	4.53	0.823	0.18812	.	0.119887	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00823	-1.155	0.21355	P	0.999717036	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.11329	0.0;0.001;0.006;0.006;0.002	T	0.47923	-0.9079	9	0.25751	T	0.34	.	8.727	0.34476	0.0:0.2233:0.0:0.7767	.	181;181;181;181;181	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	V	181	ENSP00000251157:M181V;ENSP00000340742:M181V;ENSP00000384446:M181V	ENSP00000251157:M181V	M	-	1	0	DOCK7	62886556	0.997000	0.39634	0.997000	0.53966	0.990000	0.78478	1.681000	0.37618	-0.030000	0.13804	0.379000	0.24179	ATG	T|0.959;C|0.041	0.041	strong		0.308	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	63113968	T	C	63113968	3	2	22	1	0	0	0	0	1	0	0	0	4692	1493	52	2	5964	2	DOCK7	1	63113968	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	534061	63113968	186136653	398	5506										
DOCK7	85440	hgsc.bcm.edu	37	chr1	63119442	63119442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtataacttcttatacagtCtctaacatgtggatccattt	5	8	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:63119442C>T	ENST00000340370.5	-	4	360	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DOCK7_ENST00000404627.2_Missense_Mutation_p.D115N|DOCK7_ENST00000251157.5_Missense_Mutation_p.D115N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	115					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTATACAGTCTCTAACATGT	0.303																																					p.D115N		Atlas-SNP	.											.	DOCK7	184	.	0			c.G343A						PASS	.						61	62	62					1																	63119442		2203	4297	6500	SO:0001583	missense	85440	exon4			TACAGTCTCTAAC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.343G>A	1.37:g.63119442C>T	ENSP00000340742:p.Asp115Asn	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	149	45	0.302013	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339631	0.95783	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.49720	0.77;0.77;0.77	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.78049	2.395	0.80722	D	1	D;D;P;P;D	0.65815	0.992;0.995;0.923;0.923;0.993	D;D;P;P;D	0.66979	0.925;0.948;0.772;0.772;0.913	T	0.64330	-0.6433	10	0.48119	T	0.1	.	18.898	0.92432	0.0:1.0:0.0:0.0	.	115;115;115;115;115	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	115	ENSP00000251157:D115N;ENSP00000340742:D115N;ENSP00000384446:D115N	ENSP00000251157:D115N	D	-	1	0	DOCK7	62892030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GAC	.	.	none		0.303	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63119442	C	T	63119442	3	4	22	1	0	0	0	0	1	0	0	0	4692	913	32	2	6170	2	DOCK7	1	63119442	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5474	63119442	186131179	399	5507										
ROR1	4919	hgsc.bcm.edu	37	chr1	64643650	64643650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttccagagaaatttactcCgctgattactacagggtcca	7	11	0	2	rs35586842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:64643650C>T	ENST00000371079.1	+	9	2301	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	ROR1_ENST00000545203.1_Silent_p.S93S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAATTTACTCCGCTGATTACT	0.448													C|||	122	0.024361	0.0885	0.0058	5008	,	,		18919	0.0		0.001	False		,,,				2504	0.0				p.S642S		Atlas-SNP	.											.	ROR1	113	.	0			c.C1926T						PASS	.	C		346,4060	177.3+/-206.3	12,322,1869	62	64	64		1926	-11.8	0.3	1	dbSNP_126	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ROR1	NM_005012.2		12,326,6165	TT,TC,CC		0.0465,7.8529,2.6911		642/938	64643650	350,12656	2203	4300	6503	SO:0001819	synonymous_variant	4919	exon9			TTACTCCGCTGAT	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1926C>T	1.37:g.64643650C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	126	76	0.603175	NM_005012	Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	CCDS626.1																																																																																			C|0.972;T|0.028	0.028	strong		0.448	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		T	64643650	C	T	64643650	2	4	22	1	0	0	0	0	0	0	0	1	13526	639	23	1		1	ROR1	1	64643650	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1524208	64643650	184606971	400	5508										
UBE2U	148581	hgsc.bcm.edu	37	chr1	64686577	64686577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagttacctaaagacccaCgtaaatgtatcaggtaagtt	9	7	1	1	rs139887828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:64686577C>T	ENST00000371076.3	+	6	737	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	UBE2U_ENST00000464349.1_3'UTR	NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	165					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						TAAAGACCCACGTAAATGTAT	0.284													C|||	38	0.00758786	0.0272	0.0029	5008	,	,		13978	0.0		0.0	False		,,,				2504	0.0				p.R165C		Atlas-SNP	.											.	UBE2U	16	.	0			c.C493T						PASS	.	C	CYS/ARG	138,4268	98.5+/-137.1	0,138,2065	92	99	96		493	-5.5	0	1	dbSNP_134	96	1,8589	1.2+/-3.3	0,1,4294	yes	missense	UBE2U	NM_152489.1	180	0,139,6359	TT,TC,CC		0.0116,3.1321,1.0696	benign	165/227	64686577	139,12857	2203	4295	6498	SO:0001583	missense	148581	exon6			GACCCACGTAAAT	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.493C>T	1.37:g.64686577C>T	ENSP00000360116:p.Arg165Cys	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	159	78	0.490566	NM_152489	Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	CCDS627.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	7.130	0.579790	0.13686	0.031321	1.16E-4	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.72942	-0.7;-0.69	4.12	-5.54	0.02544	Ubiquitin-conjugating enzyme/RWD-like (1);	2.859510	0.01357	N	0.012095	T	0.25419	0.0618	N	0.14661	0.345	0.09310	N	1	B	0.24043	0.096	B	0.09377	0.004	T	0.18366	-1.0339	10	0.87932	D	0	.	3.3218	0.07053	0.095:0.4157:0.2415:0.2478	.	165	Q5VVX9	UBE2U_HUMAN	C	165	ENSP00000360117:R165C;ENSP00000360116:R165C	ENSP00000360116:R165C	R	+	1	0	UBE2U	64459165	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-1.248000	0.02503	-0.229000	0.12294	CGT	C|0.991;T|0.009	0.009	strong		0.284	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		T	64686577	C	T	64686577	3	4	22	1	0	0	0	0	1	0	0	0	16871	536	19	1	515	1	UBE2U	1	64686577	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42927	64686577	184564044	401	5509										
JAK1	3716	hgsc.bcm.edu	37	chr1	65300305	65300305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcttgtccgattggatggTtggaattcccagcatttcct	10	9	0	0	rs369143723		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:65300305T>C	ENST00000342505.4	-	25	3653	c.3405A>G	c.(3403-3405)caA>caG	p.Q1135Q		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1135	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GATTGGATGGTTGGAATTCCC	0.313			Mis		ALL																																p.Q1135Q		Atlas-SNP	.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1	209	.	0			c.A3405G						PASS	.	T		1,3603		0,1,1801	104	98	100		3405	-4.4	0.6	1		100	0,8148		0,0,4074	no	coding-synonymous	JAK1	NM_002227.2		0,1,5875	CC,CT,TT		0.0,0.0277,0.0085		1135/1155	65300305	1,11751	1802	4074	5876	SO:0001819	synonymous_variant	3716	exon25			GGATGGTTGGAAT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3405A>G	1.37:g.65300305T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	166	78	0.46988	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																			.	.	none		0.313	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		C	65300305	T	C	65300305	2	2	22	1	0	0	0	0	0	0	0	1	7937	1722	60	2		2	JAK1	1	65300305	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	613728	65300305	183950316	402	5510										
LEPR	3953	hgsc.bcm.edu	37	chr1	66075952	66075952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggagatactatgaaaaaGgagaaaaatgtcactttact	8	4	1	3	rs1805094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:66075952G>C	ENST00000349533.6	+	14	2153	c.1968G>C	c.(1966-1968)aaG>aaC	p.K656N	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.K656N|LEPR_ENST00000371060.3_Missense_Mutation_p.K656N|LEPR_ENST00000371059.3_Missense_Mutation_p.K656N|LEPR_ENST00000344610.8_Missense_Mutation_p.K656N	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATGAAAAAGGAGAAAAATG	0.269													G|||	713	0.142372	0.1997	0.1888	5008	,	,		18092	0.0585		0.1511	False		,,,				2504	0.1094				p.K656N		Atlas-SNP	.											.	LEPR	284	.	0			c.G1968C	GRCh37	CM025915	LEPR	M	rs8179183	PASS	.	G	ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS	828,3574	303.5+/-288.0	71,686,1444	53	55	54	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1968,1968,1968,1968,1968,1968	-2.9	0	1	dbSNP_117	54	1467,7121	271.3+/-289.5	134,1199,2961	yes	missense,missense,missense,missense,missense,missense	LEPR	NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5	94,94,94,94,94,94	205,1885,4405	CC,CG,GG		17.082,18.8096,17.6674	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	656/897,656/959,656/959,656/907,656/897,656/1166	66075952	2295,10695	2201	4294	6495	SO:0001583	missense	3953	exon14			GAAAAAGGAGAAA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1968G>C	1.37:g.66075952G>C	ENSP00000330393:p.Lys656Asn	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	154	64	0.415584	NM_001003680	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	317	0.14514652014652016	87	0.17682926829268292	68	0.1878453038674033	38	0.06643356643356643	124	0.16358839050131926	G	8.525	0.869742	0.17322	0.188096	0.17082	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57273	0.43;0.42;0.43;0.41;0.43	5.33	-2.91	0.05631	Fibronectin, type III (2);	0.254500	0.43260	D	0.000596	T	0.27313	0.0670	L	0.47190	1.495	0.25609	P	0.9865115	P;P;P	0.51351	0.696;0.798;0.944	B;B;P	0.48552	0.232;0.409;0.581	T	0.28427	-1.0044	9	0.23891	T	0.37	-8.3309	9.1333	0.36859	0.3785:0.0:0.5107:0.1108	rs8179183;rs17127774;rs52811589;rs8179183	656;656;656	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	N	656	ENSP00000340884:K656N;ENSP00000330393:K656N;ENSP00000360099:K656N;ENSP00000360098:K656N;ENSP00000360097:K656N	ENSP00000340884:K656N	K	+	3	2	LEPR	65848540	0.102000	0.21896	0.045000	0.18777	0.677000	0.39632	-0.497000	0.06428	-0.833000	0.04245	-1.000000	0.02509	AAG	G|0.841;C|0.159	0.159	strong		0.269	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		C	66075952	G	C	66075952	3	2	22	1	0	0	0	0	1	0	0	0	8728	991	35	4	2014	4	LEPR	1	66075952	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	775647	66075952	183174669	403	5511										
LEPR	3953	hgsc.bcm.edu	37	chr1	66102257	66102257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctagcaaaaattctccGttgaaggattctttctctaa	5	9	4	1	rs1805096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:66102257G>A	ENST00000349533.6	+	20	3242	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	LEPR_ENST00000406510.3_Silent_p.P86P	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAAATTCTCCGTTGAAGGATT	0.413													A|||	2653	0.529752	0.4478	0.4841	5008	,	,		18263	0.869		0.3797	False		,,,				2504	0.4775				p.P1019P		Atlas-SNP	.											.	LEPR	284	.	0			c.G3057A						PASS	.	A		2073,2329		506,1061,634	66	72	70		3057	-11.9	0	1	dbSNP_89	70	3222,5370		624,1974,1698	no	coding-synonymous	LEPR	NM_002303.5		1130,3035,2332	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	37.5,47.0922,40.7496		1019/1166	66102257	5295,7699	2201	4296	6497	SO:0001819	synonymous_variant	3953	exon20			TTCTCCGTTGAAG	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3057G>A	1.37:g.66102257G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																			G|0.516;A|0.484	0.484	strong		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		A	66102257	G	A	66102257	2	1	22	1	0	0	0	0	0	0	0	1	8728	1132	40	1		1	LEPR	1	66102257	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26305	66102257	183148364	404	5512										
SGIP1	84251	hgsc.bcm.edu	37	chr1	67105495	67105495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccaaatggattttatgcGgaaattgattgggaaagata	11	4	0	2	rs187876611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67105495G>A	ENST00000371037.4	+	5	284	c.207G>A	c.(205-207)gcG>gcA	p.A69A	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Silent_p.A44A|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Silent_p.A73A|SGIP1_ENST00000371039.1_Silent_p.A45A	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	69					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GATTTTATGCGGAAATTGATT	0.299													G|||	5	0.000998403	0.0	0.0	5008	,	,		19033	0.005		0.0	False		,,,				2504	0.0				p.A69A		Atlas-SNP	.											SGIP1_ENST00000371039,right_upper_lobe,carcinoma,+2,2	SGIP1	272	2	0			c.G207A						scavenged	.	G		0,4406		0,0,2203	92	93	93		207	-6.7	0.9	1		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SGIP1	NM_032291.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		69/829	67105495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84251	exon5			TTATGCGGAAATT	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.207G>A	1.37:g.67105495G>A		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	274	4	0.0145985	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																			G|0.998;A|0.002	0.002	strong		0.299	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67105495	G	A	67105495	2	1	22	1	0	0	0	0	0	0	0	1	14206	1103	39	1		1	SGIP1	1	67105495	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1003238	67105495	182145126	405	5513										
TCTEX1D1	200132	hgsc.bcm.edu	37	chr1	67236097	67236097	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtactgtgtcttatatggaAgaacccagtcagcgtgatga	11	7	2	3	rs1060575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67236097A>T	ENST00000282670.2	+	3	275	c.147A>T	c.(145-147)gaA>gaT	p.E49D	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	49			E -> D (in dbSNP:rs1060575).							large_intestine(2)|lung(10)|skin(1)	13						CTTATATGGAAGAACCCAGTC	0.328													T|||	664	0.132588	0.0862	0.1023	5008	,	,		19085	0.1488		0.1511	False		,,,				2504	0.181				p.E49D		Atlas-SNP	.											.	TCTEX1D1	27	.	0			c.A147T						PASS	.	T	ASP/GLU	378,4028	792.1+/-415.1	18,342,1843	180	175	177		147	2.5	1	1	dbSNP_86	177	1188,7412	763.8+/-407.6	85,1018,3197	yes	missense	TCTEX1D1	NM_152665.2	45	103,1360,5040	TT,TA,AA		13.814,8.5792,12.0406	benign	49/180	67236097	1566,11440	2203	4300	6503	SO:0001583	missense	200132	exon3			TATGGAAGAACCC	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.147A>T	1.37:g.67236097A>T	ENSP00000282670:p.Glu49Asp	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_152665	Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	CCDS633.1	266	0.12179487179487179	37	0.07520325203252033	42	0.11602209944751381	82	0.14335664335664336	105	0.13852242744063326	T	0.109	-1.141193	0.01728	0.085792	0.13814	ENSG00000152760	ENST00000282670	T	0.13901	2.55	6.06	2.55	0.30701	.	0.147752	0.64402	N	0.000016	T	0.00524	0.0017	N	0.00151	-1.98	0.46609	P	8.709999999999551E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42378	-0.9455	9	0.02654	T	1	-10.0546	4.7902	0.13245	0.1273:0.2766:0.0:0.596	rs1060575;rs1498353;rs3201482;rs17441805;rs52832612;rs1060575	49	Q8N7M0	TC1D1_HUMAN	D	49	ENSP00000282670:E49D	ENSP00000282670:E49D	E	+	3	2	TCTEX1D1	67008685	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	1.263000	0.33004	-0.032000	0.13758	-1.091000	0.02175	GAA	A|0.878;N|0.000	.	strong		0.328	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		T	67236097	A	T	67236097	3	4	22	1	0	0	0	0	1	0	0	0	15716	69	3	5	153	5	TCTEX1D1	1	67236097	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130602	67236097	182014524	406	5514										
TCTEX1D1	200132	hgsc.bcm.edu	37	chr1	67242087	67242087	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgactaaaaccatttctgagGtacgtgtgtgatttgcccaa	9	8	1	3	rs3816989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67242087G>A	ENST00000282670.2	+	4	464		c.e4+1			NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1											large_intestine(2)|lung(10)|skin(1)	13						CATTTCTGAGGTACGTGTGTG	0.368													G|||	654	0.130591	0.0794	0.1009	5008	,	,		17193	0.1488		0.1511	False		,,,				2504	0.181				.		Atlas-SNP	.											.	TCTEX1D1	27	.	0			c.336+1G>A						PASS	.	G		366,4040	185.7+/-212.7	18,330,1855	94	93	94			5.9	1	1	dbSNP_107	94	1187,7413	241.5+/-271.8	84,1019,3197	yes	splice-5	TCTEX1D1	NM_152665.2		102,1349,5052	AA,AG,GG		13.8023,8.3069,11.9406			67242087	1553,11453	2203	4300	6503	SO:0001630	splice_region_variant	200132	exon4			TCTGAGGTACGTG	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.336+1G>A	1.37:g.67242087G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	194	97	0.5	NM_152665	Q06YR9|Q5VYE1	Splice_Site	SNP	ENST00000282670.2	37	CCDS633.1	264	0.12087912087912088	35	0.07113821138211382	42	0.11602209944751381	82	0.14335664335664336	105	0.13852242744063326	G	18.01	3.528188	0.64860	0.083069	0.138023	ENSG00000152760	ENST00000282670	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0921	0.93231	0.0:0.0:1.0:0.0	rs3816989;rs12748193;rs3816989	.	.	.	.	-1	.	.	.	+	.	.	TCTEX1D1	67014675	1.000000	0.71417	0.999000	0.59377	0.672000	0.39443	8.439000	0.90308	2.809000	0.96659	0.655000	0.94253	.	G|0.879;A|0.121	0.121	strong		0.368	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665	Intron	A	67242087	G	A	67242087	5	1	22	1	0	0	0	0	0	0	1	0	15716	1275	44	2	347	2	TCTEX1D1	1	67242087	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5990	67242087	182008534	407	5515										
WDR78	79819	hgsc.bcm.edu	37	chr1	67327986	67327986	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggcagtggacattatgcCtagataaagacacagaaagg	11	8	0	3	rs144890566		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67327986C>G	ENST00000371026.3	-	7	996		c.e7-1		WDR78_ENST00000431318.1_Splice_Site|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000371023.3_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GACATTATGCCTAGATAAAGA	0.318																																					.		Atlas-SNP	.											.	WDR78	102	.	0			c.941-1G>C						PASS	.	C	,	2,4404	4.2+/-10.8	0,2,2201	65	65	65		,	4.8	0.6	1	dbSNP_134	65	0,8600		0,0,4300	no	splice-3,splice-3	WDR78	NM_024763.4,NM_207014.2	,	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	,	,	67327986	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	79819	exon8			TTATGCCTAGATA	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.941-1G>C	1.37:g.67327986C>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	178	93	0.522472	NM_024763	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.64|17.64	3.440343|3.440343	0.63067|0.63067	4.54E-4|4.54E-4	0.0|0.0	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000469450|ENST00000531552	.|T	.|0.55413	.|0.52	5.67|5.67	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47544	.|0.1451	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47262	.|-0.9131	.|5	.|.	.|.	.|.	.|.	12.3988|12.3988	0.55402|0.55402	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	.|.	.|.	.|.	.|R	-1|1	.|ENSP00000433037:G1R	.|.	.|G	-|-	.|1	.|0	WDR78|WDR78	67100574|67100574	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.826000|0.826000	0.46750|0.46750	4.397000|4.397000	0.59690|0.59690	1.393000|1.393000	0.46605|0.46605	0.591000|0.591000	0.81541|0.81541	.|GGC	C|1.000;G|0.000	0.000	weak		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Intron	G	67327986	C	G	67327986	5	3	22	1	0	0	0	0	0	0	1	0	17325	695	24	4	1707	4	WDR78	1	67327986	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85899	67327986	181922635	408	5516										
SLC35D1	23169	hgsc.bcm.edu	37	chr1	67518534	67518534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagaactgccactgtggCcaccatctgtaaacaagaga	9	12	1	2	rs10157422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67518534C>T	ENST00000235345.5	-	3	329	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	SLC35D1_ENST00000506472.2_Missense_Mutation_p.A3T	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	82			A -> T (in dbSNP:rs10157422).		carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GCCACTGTGGCCACCATCTGT	0.433													C|||	522	0.104233	0.267	0.062	5008	,	,		18937	0.0		0.0577	False		,,,				2504	0.0695				p.A82T		Atlas-SNP	.											SLC35D1,NS,carcinoma,+2,1	SLC35D1	22	1	0			c.G244A						scavenged	.	C	THR/ALA	1031,3375	381.1+/-324.0	102,827,1274	136	128	131		244	5.1	1	1	dbSNP_119	131	567,8033	153.0+/-207.5	11,545,3744	yes	missense	SLC35D1	NM_015139.2	58	113,1372,5018	TT,TC,CC		6.593,23.3999,12.2866	possibly-damaging	82/356	67518534	1598,11408	2203	4300	6503	SO:0001583	missense	23169	exon3			CTGTGGCCACCAT	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.244G>A	1.37:g.67518534C>T	ENSP00000235345:p.Ala82Thr	Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_015139	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	189	0.08653846153846154	119	0.241869918699187	26	0.0718232044198895	0	0.0	44	0.05804749340369393	C	29.6	5.022245	0.93462	0.233999	0.06593	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.65178	-0.14;0.28	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.62723	1.935	0.09310	P	0.9999999999186048	B;B	0.33212	0.103;0.402	B;B	0.29942	0.061;0.109	T	0.48514	-0.9029	9	0.14656	T	0.56	-31.2119	17.1609	0.86803	0.0:1.0:0.0:0.0	rs10157422;rs52821602;rs57934810;rs10157422	3;82	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	T	82;3	ENSP00000235345:A82T;ENSP00000445189:A3T	ENSP00000235345:A82T	A	-	1	0	SLC35D1	67291122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.342000	0.79632	0.561000	0.74099	GCC	C|0.884;T|0.116	0.116	strong		0.433	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		T	67518534	C	T	67518534	3	4	22	1	0	0	0	0	1	0	0	0	14581	739	26	2	863	2	SLC35D1	1	67518534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	190548	67518534	181732087	409	5517										
IL12RB2	3595	hgsc.bcm.edu	37	chr1	67787286	67787286	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctgtatcttattgcagaTgcgtgcaagagaggcgatgt	12	7	2	2	rs2307147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:67787286T>C	ENST00000262345.1	+	3	718	c.78T>C	c.(76-78)gaT>gaC	p.D26D	IL12RB2_ENST00000544434.1_Splice_Site_p.D26D|IL12RB2_ENST00000371000.1_Splice_Site_p.D26D|IL12RB2_ENST00000541374.1_Splice_Site_p.D26D	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	26					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTATTGCAGATGCGTGCAAGA	0.388													T|||	324	0.0646965	0.2383	0.013	5008	,	,		20536	0.0		0.0	False		,,,				2504	0.0				p.D26D		Atlas-SNP	.											.	IL12RB2	94	.	0			c.T78C						PASS	.	T		901,3505	347.5+/-309.5	88,725,1390	103	94	97		78	-1.2	1	1	dbSNP_100	97	9,8591	5.7+/-21.5	0,9,4291	yes	coding-synonymous-near-splice	IL12RB2	NM_001559.2		88,734,5681	CC,CT,TT		0.1047,20.4494,6.9968		26/863	67787286	910,12096	2203	4300	6503	SO:0001630	splice_region_variant	3595	exon3			TGCAGATGCGTGC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.77-1T>C	1.37:g.67787286T>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	CCDS638.1																																																																																			T|0.926;C|0.074	0.074	strong		0.388	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	Silent	C	67787286	T	C	67787286	5	2	22	1	0	0	0	0	0	0	1	0	7627	1478	51	2	84	2	IL12RB2	1	67787286	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	268752	67787286	181463335	410	5518										
GNG12	55970	hgsc.bcm.edu	37	chr1	68171215	68171215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaagggtcactcctggcAtgttcctcacagtaggacat	10	11	2	0	rs17130202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:68171215A>G	ENST00000370982.3	-	4	337	c.138T>C	c.(136-138)caT>caC	p.H46H		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	46					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			lung(3)	3						CACTCCTGGCATGTTCCTCAC	0.393													A|||	54	0.0107827	0.0386	0.0043	5008	,	,		20621	0.0		0.0	False		,,,				2504	0.0				p.H46H		Atlas-SNP	.											.	GNG12	11	.	0			c.T138C						PASS	.	A		138,4268	99.4+/-138.0	2,134,2067	128	119	122		138	-4.2	1	1	dbSNP_123	122	0,8600		0,0,4300	no	coding-synonymous	GNG12	NM_018841.5		2,134,6367	GG,GA,AA		0.0,3.1321,1.061		46/73	68171215	138,12868	2203	4300	6503	SO:0001819	synonymous_variant	55970	exon4			CCTGGCATGTTCC	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.138T>C	1.37:g.68171215A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	103	42	0.407767	NM_018841	Q69YP5|Q9BRV5	Silent	SNP	ENST00000370982.3	37	CCDS30749.1																																																																																			A|0.991;G|0.009	0.009	strong		0.393	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			G	68171215	A	G	68171215	2	3	22	1	0	0	0	0	0	0	0	1	6525	214	8	2		2	GNG12	1	68171215	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	383929	68171215	181079406	411	5519										
DIRAS3	9077	hgsc.bcm.edu	37	chr1	68512441	68512441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacatcggtcttggctgaAatctccatgaaggcgcaatt	9	10	3	2	rs61736596	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:68512441A>G	ENST00000370981.1	-	4	1176	c.540T>C	c.(538-540)atT>atC	p.I180I	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.I180I|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	180					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGGCTGAAATCTCCATGA	0.547													G|||	464	0.0926518	0.2829	0.0548	5008	,	,		19228	0.0		0.0388	False		,,,				2504	0.0133				p.I180I		Atlas-SNP	.											.	DIRAS3	31	.	0			c.T540C						PASS	.	G		1086,3320	720.9+/-409.1	134,818,1251	124	121	122		540	2.8	0.3	1	dbSNP_129	122	266,8334	807.6+/-407.2	4,258,4038	no	coding-synonymous	DIRAS3	NM_004675.2		138,1076,5289	GG,GA,AA		3.093,24.6482,10.3952		180/230	68512441	1352,11654	2203	4300	6503	SO:0001819	synonymous_variant	9077	exon2			GGCTGAAATCTCC	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.540T>C	1.37:g.68512441A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	171	91	0.532164	NM_004675	B3KMP3	Silent	SNP	ENST00000370981.1	37	CCDS641.1																																																																																			A|0.900;G|0.100	0.100	strong		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		G	68512441	A	G	68512441	2	3	22	1	0	0	0	0	0	0	0	1	4532	10	1	2		2	DIRAS3	1	68512441	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	341226	68512441	180738180	412	5520										
RPE65	6121	hgsc.bcm.edu	37	chr1	68904645	68904645	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttccagcagcagagatcCacaatcagaaacccattgtc	6	14	1	2	rs61752907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:68904645C>A	ENST00000262340.5	-	9	1031	c.978G>T	c.(976-978)gtG>gtT	p.V326V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	326					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AGCAGAGATCCACAATCAGAA	0.418													C|||	12	0.00239617	0.0083	0.0	5008	,	,		18772	0.0		0.001	False		,,,				2504	0.0				p.V326V		Atlas-SNP	.											.	RPE65	87	.	0			c.G978T						PASS	.	C		17,4389	25.3+/-52.1	0,17,2186	281	279	280	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	978	3	1	1	dbSNP_129	280	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	RPE65	NM_000329.2		0,21,6482	AA,AC,CC		0.0465,0.3858,0.1615		326/534	68904645	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	6121	exon9			GAGATCCACAATC	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.978G>T	1.37:g.68904645C>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	143	72	0.503497	NM_000329	A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	CCDS643.1																																																																																			C|0.998;A|0.002	0.002	strong		0.418	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		A	68904645	C	A	68904645	2	1	22	1	0	0	0	0	0	0	0	1	13545	581	21	4		4	RPE65	1	68904645	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	392204	68904645	180345976	413	5521										
LRRC7	57554	hgsc.bcm.edu	37	chr1	70460304	70460304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacttacaatgctacccaAtacaattggaaagtaagtgc	6	9	1	0	rs72676879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:70460304A>G	ENST00000035383.5	+	9	908	c.878A>G	c.(877-879)aAt>aGt	p.N293S	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.N298S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	293						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						ATGCTACCCAATACAATTGGA	0.328													A|||	35	0.00698882	0.0182	0.0058	5008	,	,		16545	0.0		0.007	False		,,,				2504	0.0				p.N293S		Atlas-SNP	.											.	LRRC7	400	.	0			c.A878G						PASS	.	A	SER/ASN	57,4349	56.2+/-92.4	0,57,2146	105	109	108		878	5.4	1	1	dbSNP_130	108	56,8544	34.8+/-89.0	2,52,4246	yes	missense	LRRC7	NM_020794.2	46	2,109,6392	GG,GA,AA		0.6512,1.2937,0.8688	benign	293/1538	70460304	113,12893	2203	4300	6503	SO:0001583	missense	57554	exon9			TACCCAATACAAT		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.878A>G	1.37:g.70460304A>G	ENSP00000035383:p.Asn293Ser	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	40	16	0.4	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	11	0.005036630036630037	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	A	17.60	3.430936	0.62844	0.012937	0.006512	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	2.03;1.88	5.4	5.4	0.78164	.	0.100641	0.64402	D	0.000003	T	0.08223	0.0205	N	0.05306	-0.075	0.80722	D	1	B	0.32365	0.367	B	0.38020	0.263	T	0.25187	-1.0139	10	0.33940	T	0.23	.	14.8941	0.70630	1.0:0.0:0.0:0.0	.	293	Q96NW7	LRRC7_HUMAN	S	298;293;116	ENSP00000309245:N298S;ENSP00000035383:N293S	ENSP00000035383:N293S	N	+	2	0	LRRC7	70232892	1.000000	0.71417	0.997000	0.53966	0.559000	0.35586	8.517000	0.90555	2.178000	0.69098	0.533000	0.62120	AAT	A|0.991;G|0.009	0.009	strong		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		G	70460304	A	G	70460304	3	3	22	1	0	0	0	0	1	0	0	0	9020	101	4	2	912	2	LRRC7	1	70460304	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1555659	70460304	178790317	414	5522										
HHLA3	11147	hgsc.bcm.edu	37	chr1	70820802	70820802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcgtgccgtatgtacgaaGctagcaaatatgtacagcac	9	10	0	0	rs17131261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:70820802G>A	ENST00000359875.5	+	1	308	c.168G>A	c.(166-168)aaG>aaA	p.K56K	ANKRD13C_ENST00000262346.6_5'Flank|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000531950.1_Silent_p.K56K|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000370940.5_Intron|HHLA3_ENST00000432224.1_Silent_p.K56K	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	56										large_intestine(3)|lung(1)	4						tatgtacgaagctagcaaata	0.502													G|||	134	0.0267572	0.0938	0.0144	5008	,	,		20899	0.0		0.0	False		,,,				2504	0.0				p.K56K		Atlas-SNP	.											.	HHLA3	11	.	0			c.G168A						PASS	.	G	,,	319,4087	170.1+/-200.6	8,303,1892	92	72	79		,168,	2.6	0	1	dbSNP_123	79	5,8595	3.7+/-12.6	0,5,4295	no	intron,coding-synonymous,intron	HHLA3	NM_001031693.2,NM_001036645.1,NM_001036646.1	,,	8,308,6187	AA,AG,GG		0.0581,7.2401,2.4912	,,	,56/115,	70820802	324,12682	2203	4300	6503	SO:0001819	synonymous_variant	11147	exon1			TACGAAGCTAGCA	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.168G>A	1.37:g.70820802G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	97	50	0.515464	NM_001036645	D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Silent	SNP	ENST00000359875.5	37	CCDS30753.1																																																																																			G|0.971;A|0.029	0.029	strong		0.502	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		A	70820802	G	A	70820802	2	1	22	1	0	0	0	0	0	0	0	1	7096	962	34	2		2	HHLA3	1	70820802	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	360498	70820802	178429819	415	5523										
PTGER3	5733	hgsc.bcm.edu	37	chr1	71512643	71512643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggtgctgatgaagcaccaCgtcccgggccactggacggt	14	14	0	2	rs5671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:71512643C>A	ENST00000306666.5	-	1	828	c.618G>T	c.(616-618)acG>acT	p.T206T	PTGER3_ENST00000351052.5_Silent_p.T206T|PTGER3_ENST00000370924.4_Silent_p.T206T|PTGER3_ENST00000354608.5_Silent_p.T206T|PTGER3_ENST00000370931.3_Silent_p.T206T|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Silent_p.T206T|PTGER3_ENST00000370932.2_Silent_p.T206T|PTGER3_ENST00000460330.1_Silent_p.T206T|PTGER3_ENST00000356595.4_Silent_p.T206T	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	206					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGAAGCACCACGTCCCGGGCC	0.677													C|||	355	0.0708866	0.1589	0.0706	5008	,	,		15416	0.0		0.0845	False		,,,				2504	0.0112				p.T206T		Atlas-SNP	.											PTGER3_ENST00000460330,NS,carcinoma,0,5	PTGER3	246	5	0			c.G618T						PASS	.	C	,,,,,,	692,3712	279.9+/-275.1	44,604,1554	55	57	57		618,618,618,618,618,618,618	-1.9	1	1	dbSNP_52	57	731,7869	174.5+/-224.7	37,657,3606	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTGER3	NM_001126044.1,NM_198714.1,NM_198715.2,NM_198716.1,NM_198717.1,NM_198718.1,NM_198719.1	,,,,,,	81,1261,5160	AA,AC,CC		8.5,15.713,10.9428	,,,,,,	206/391,206/391,206/389,206/375,206/366,206/419,206/391	71512643	1423,11581	2202	4300	6502	SO:0001819	synonymous_variant	5733	exon1			GCACCACGTCCCG	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.618G>T	1.37:g.71512643C>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	96	56	0.583333	NM_001126044	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	CCDS657.1																																																																																			C|0.893;A|0.107	0.107	strong		0.677	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		A	71512643	C	A	71512643	2	1	22	1	0	0	0	0	0	0	0	1	12744	523	19	4		4	PTGER3	1	71512643	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	691841	71512643	177737978	416	5524										
ZRANB2	9406	hgsc.bcm.edu	37	chr1	71538191	71538191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagattcttctctttctatAtattcaacattttctctttc	1	10	6	1	rs11556475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:71538191A>G	ENST00000370920.3	-	5	643	c.342T>C	c.(340-342)taT>taC	p.Y114Y	ZRANB2_ENST00000254821.6_Silent_p.Y114Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	114					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTCTTTCTATATATTCAACAT	0.284													A|||	355	0.0708866	0.1589	0.0692	5008	,	,		15666	0.0		0.0855	False		,,,				2504	0.0112				p.Y114Y		Atlas-SNP	.											.	ZRANB2	75	.	0			c.T342C						PASS	.	A	,	691,3711	287.5+/-279.3	42,607,1552	65	69	68		342,342	0.3	1	1	dbSNP_120	68	725,7857	176.2+/-226.1	36,653,3602	no	coding-synonymous,coding-synonymous	ZRANB2	NM_005455.4,NM_203350.2	,	78,1260,5154	GG,GA,AA		8.4479,15.6974,10.9057	,	114/321,114/331	71538191	1416,11568	2201	4291	6492	SO:0001819	synonymous_variant	9406	exon5			TTCTATATATTCA	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.342T>C	1.37:g.71538191A>G		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	324	153	0.472222	NM_203350	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Silent	SNP	ENST00000370920.3	37	CCDS659.1																																																																																			A|0.898;G|0.102	0.102	strong		0.284	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		G	71538191	A	G	71538191	2	3	22	1	0	0	0	0	0	0	0	1	18220	456	16	2		2	ZRANB2	1	71538191	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25548	71538191	177712430	417	5525										
LRRIQ3	127255	hgsc.bcm.edu	37	chr1	74575141	74575141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaaaaagagatccttaagGagcttatcttcatacccttt	6	8	2	2	rs182798407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:74575141G>A	ENST00000395089.1	-	4	803	c.804C>T	c.(802-804)ctC>ctT	p.L268L	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Silent_p.L268L|LRRIQ3_ENST00000370909.2_Silent_p.L160L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	268										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GATCCTTAAGGAGCTTATCTT	0.289													G|||	15	0.00299521	0.0113	0.0	5008	,	,		12152	0.0		0.0	False		,,,				2504	0.0				p.L268L		Atlas-SNP	.											LRRIQ3,right_upper_lobe,carcinoma,-1,1	LRRIQ3	146	1	0			c.C804T						PASS	.	G		41,3525		2,37,1744	100	83	88		804	2	0	1		88	0,8096		0,0,4048	no	coding-synonymous	LRRIQ3	NM_001105659.1		2,37,5792	AA,AG,GG		0.0,1.1497,0.3516		268/625	74575141	41,11621	1783	4048	5831	SO:0001819	synonymous_variant	127255	exon5			CTTAAGGAGCTTA	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.804C>T	1.37:g.74575141G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	120	59	0.491667	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	CCDS41350.1																																																																																			G|0.997;A|0.003	0.003	strong		0.289	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		A	74575141	G	A	74575141	2	1	22	1	0	0	0	0	0	0	0	1	9030	1161	41	2		2	LRRIQ3	1	74575141	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3036950	74575141	174675480	418	5526										
LRRIQ3	127255	hgsc.bcm.edu	37	chr1	74649119	74649119	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaaatggctattgcttaCctgatttccatggagatcaa	8	8	2	3	rs143858191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:74649119C>T	ENST00000395089.1	-	1	249		c.e1+1		LRRIQ3_ENST00000370911.3_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000354431.4_Splice_Site			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTATTGCTTACCTGATTTCCA	0.299													C|||	12	0.00239617	0.0091	0.0	5008	,	,		16045	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	LRRIQ3	146	.	0			c.249+1G>A						PASS	.	C		32,4368	34.3+/-65.2	2,28,2170	61	67	65			5.3	1	1	dbSNP_134	65	0,8588		0,0,4294	yes	splice-5	LRRIQ3	NM_001105659.1		2,28,6464	TT,TC,CC		0.0,0.7273,0.2464			74649119	32,12956	2200	4294	6494	SO:0001630	splice_region_variant	127255	exon3			TGCTTACCTGATT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.249+1G>A	1.37:g.74649119C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	119	55	0.462185	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Splice_Site	SNP	ENST00000395089.1	37	CCDS41350.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	C	17.79	3.476396	0.63737	0.007273	0.0	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000444984;ENST00000370911	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0114	0.89225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRIQ3	74421707	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.083000	0.64456	2.601000	0.87937	0.655000	0.94253	.	C|0.998;T|0.002	0.002	strong		0.299	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	Intron	T	74649119	C	T	74649119	5	4	22	1	0	0	0	0	0	0	1	0	9030	521	18	2	1652	2	LRRIQ3	1	74649119	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73978	74649119	174601502	419	5527										
FPGT	8790	hgsc.bcm.edu	37	chr1	74670277	74670277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaatttgagtttattagGtttgacaaacctggctttac	10	5	0	3	rs139749795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:74670277G>A	ENST00000609362.1	+	4	583	c.546G>A	c.(544-546)agG>agA	p.R182R	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000467578.2_3'UTR|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Silent_p.R195R|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	182					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R182R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTTTATTAGGTTTGACAAAC	0.353													G|||	15	0.00299521	0.0113	0.0	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0				p.R182R		Atlas-SNP	.											FPGT,NS,carcinoma,0,1	FPGT	77	1	1	Substitution - coding silent(1)	lung(1)	c.G546A						PASS	.	G	,,,,	49,4357	51.6+/-87.1	2,45,2156	113	111	111		,,,,546	-11.1	0	1	dbSNP_134	111	0,8600		0,0,4300	no	intron,intron,intron,intron,coding-synonymous	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,	2,45,6456	AA,AG,GG		0.0,1.1121,0.3767	,,,,	,,,,182/595	74670277	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	8790	exon4			TATTAGGTTTGAC	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.546G>A	1.37:g.74670277G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	166	78	0.46988	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	CCDS663.1																																																																																			G|0.996;A|0.004	0.004	strong		0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	74670277	G	A	74670277	2	1	22	1	0	0	0	0	0	0	0	1	6037	1252	44	2		2	FPGT	1	74670277	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21158	74670277	174580344	420	5528										
C1orf173	127254	hgsc.bcm.edu	37	chr1	75038963	75038963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgctgttggcttccacgCcctcaagggagcctcatgaa	10	14	3	1	rs75061423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:75038963C>A	ENST00000326665.5	-	14	2649	c.2431G>T	c.(2431-2433)Gcg>Tcg	p.A811S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		811	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGCTTCCACGCCCTCAAGGGA	0.557													c|||	122	0.024361	0.0908	0.0029	5008	,	,		17211	0.0		0.0	False		,,,				2504	0.0				p.A811S		Atlas-SNP	.											.	C1orf173	380	.	0			c.G2431T						PASS	.	C	SER/ALA	345,4061	181.2+/-209.3	12,321,1870	91	88	89		2431	2.6	0	1	dbSNP_131	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C1orf173	NM_001002912.4	99	12,322,6169	AA,AC,CC		0.0116,7.8302,2.6603	benign	811/1531	75038963	346,12660	2203	4300	6503	SO:0001583	missense	127254	exon14			TCCACGCCCTCAA																												ENST00000326665.5:c.2431G>T	1.37:g.75038963C>A	ENSP00000322609:p.Ala811Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	126	60	0.47619	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	38	0.0173992673992674	37	0.07520325203252033	1	0.0027624309392265192	0	0.0	0	0.0	C	12.22	1.873823	0.33069	0.078302	1.16E-4	ENSG00000178965	ENST00000326665	T	0.11604	2.76	5.54	2.6	0.31112	.	.	.	.	.	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.47686	-0.9098	9	0.15952	T	0.53	-1.3011	7.1998	0.25874	0.0:0.5789:0.2768:0.1442	.	811	Q5RHP9	CA173_HUMAN	S	811	ENSP00000322609:A811S	ENSP00000322609:A811S	A	-	1	0	C1orf173	74811551	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.211000	0.09332	0.701000	0.31803	0.561000	0.74099	GCG	A|0.022;C|0.978	0.022	strong		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75038963	C	A	75038963	3	1	22	1	0	0	0	0	1	0	0	0	2014	739	26	4	2165	4	C1orf173	1	75038963	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	368686	75038963	174211658	421	5529										
CRYZ	1429	hgsc.bcm.edu	37	chr1	75175865	75175865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaatcttttgtccttcctCagtaccagcagtgcccaaaa	5	13	2	0	rs17095822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:75175865C>T	ENST00000340866.5	-	6	634	c.547G>A	c.(547-549)Gag>Aag	p.E183K	CRYZ_ENST00000492102.1_5'Flank|CRYZ_ENST00000370871.3_Missense_Mutation_p.E183K|CRYZ_ENST00000370872.3_Missense_Mutation_p.E46K|CRYZ_ENST00000417775.1_Missense_Mutation_p.E183K	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	183			E -> K (in dbSNP:rs17095822).		protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TGTCCTTCCTCAGTACCAGCA	0.353													C|||	105	0.0209665	0.0756	0.0043	5008	,	,		15672	0.001		0.0	False		,,,				2504	0.001				p.E183K		Atlas-SNP	.											.	CRYZ	28	.	0			c.G547A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	244,4162	141.9+/-177.2	7,230,1966	78	79	79		547,547,136,547	4.6	1	1	dbSNP_123	79	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	CRYZ	NM_001130042.1,NM_001130043.1,NM_001134759.1,NM_001889.3	56,56,56,56	7,233,6263	TT,TC,CC		0.0349,5.5379,1.8991	benign,benign,benign,benign	183/330,183/296,46/193,183/330	75175865	247,12759	2203	4300	6503	SO:0001583	missense	1429	exon6			CTTCCTCAGTACC		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.547G>A	1.37:g.75175865C>T	ENSP00000339399:p.Glu183Lys	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	303	145	0.478548	NM_001130043	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	CCDS665.1	38	0.0173992673992674	37	0.07520325203252033	1	0.0027624309392265192	0	0.0	0	0.0	C	7.833	0.720290	0.15372	0.055379	3.49E-4	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T;T	0.32272	3.43;3.43;3.43;1.46;3.43;3.43	5.54	4.63	0.57726	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.170547	0.48767	D	0.000162	T	0.18173	0.0436	L	0.54863	1.705	0.42476	D	0.992842	B;B;B	0.27068	0.141;0.167;0.029	B;B;B	0.35114	0.051;0.196;0.027	T	0.05084	-1.0907	10	0.39692	T	0.17	.	9.917	0.41442	0.0:0.7871:0.1388:0.074	rs17095822;rs56573849;rs17095822	46;183;183	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	K	183;46;183;183;183;183	ENSP00000339399:E183K;ENSP00000359909:E46K;ENSP00000399805:E183K;ENSP00000359908:E183K;ENSP00000359907:E183K;ENSP00000404289:E183K	ENSP00000339399:E183K	E	-	1	0	CRYZ	74948453	0.995000	0.38212	0.965000	0.40720	0.170000	0.22686	2.685000	0.46959	1.464000	0.47987	0.563000	0.77884	GAG	C|0.979;T|0.021	0.021	strong		0.353	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			T	75175865	C	T	75175865	3	4	22	1	0	0	0	0	1	0	0	0	3922	835	29	2	458	2	CRYZ	1	75175865	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	136902	75175865	174074756	422	5530										
CRYZ	1429	hgsc.bcm.edu	37	chr1	75175886	75175886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaccagcagtgcccaaaaTctttaagccataagctctag	7	11	2	0	rs3819946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:75175886T>C	ENST00000340866.5	-	6	613	c.526A>G	c.(526-528)Att>Gtt	p.I176V	CRYZ_ENST00000492102.1_5'Flank|CRYZ_ENST00000370871.3_Missense_Mutation_p.I176V|CRYZ_ENST00000370872.3_Missense_Mutation_p.I39V|CRYZ_ENST00000417775.1_Missense_Mutation_p.I176V	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	176			I -> V (in dbSNP:rs3819946). {ECO:0000269|Ref.4}.		protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	GTGCCCAAAATCTTTAAGCCA	0.368													C|||	2307	0.460663	0.525	0.3386	5008	,	,		15728	0.7669		0.1421	False		,,,				2504	0.4724				p.I176V		Atlas-SNP	.											.	CRYZ	28	.	0			c.A526G						PASS	.	C	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1978,2428	616.5+/-392.8	445,1088,670	75	76	75		526,526,115,526	5.5	1	1	dbSNP_107	75	1123,7477	767.3+/-407.6	74,975,3251	yes	missense,missense,missense,missense	CRYZ	NM_001130042.1,NM_001130043.1,NM_001134759.1,NM_001889.3	29,29,29,29	519,2063,3921	CC,CT,TT		13.0581,44.8933,23.8428	benign,benign,benign,benign	176/330,176/296,39/193,176/330	75175886	3101,9905	2203	4300	6503	SO:0001583	missense	1429	exon6			CCAAAATCTTTAA		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.526A>G	1.37:g.75175886T>C	ENSP00000339399:p.Ile176Val	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	260	121	0.465385	NM_001130043	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	CCDS665.1	914	0.4184981684981685	236	0.4796747967479675	111	0.30662983425414364	445	0.777972027972028	122	0.16094986807387862	C	3.968	-0.008900	0.07727	0.448933	0.130581	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;4.15;4.15	5.54	5.54	0.83059	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.01189	0.0039	N	0.00563	-1.375	0.53005	P	3.399999999997849E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.42344	-0.9457	9	0.02654	T	1	.	11.7379	0.51775	0.0:0.8555:0.0:0.1445	rs3819946;rs52802695;rs56521451;rs60828006;rs3819946	39;176;176	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	V	176;39;176;176;176;176	ENSP00000339399:I176V;ENSP00000359909:I39V;ENSP00000399805:I176V;ENSP00000359908:I176V;ENSP00000359907:I176V;ENSP00000404289:I176V	ENSP00000339399:I176V	I	-	1	0	CRYZ	74948474	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	4.095000	0.57728	1.488000	0.48433	-0.213000	0.12676	ATT	C|0.339;N|0.000	0.339	strong		0.368	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			C	75175886	T	C	75175886	3	2	22	1	0	0	0	0	1	0	0	0	3922	1435	50	2	479	2	CRYZ	1	75175886	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	75175886	174074735	423	5531										
TYW3	127253	hgsc.bcm.edu	37	chr1	75214441	75214441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattttcttacagcattccAtggcaatagattctggtttc	6	8	2	1	rs1133891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:75214441A>G	ENST00000370867.3	+	4	450	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Start_Codon_SNP_p.M1V|TYW3_ENST00000457880.2_Missense_Mutation_p.M88V	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	121			M -> V (in dbSNP:rs1133891). {ECO:0000269|PubMed:14702039}.		tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ACAGCATTCCATGGCAATAGA	0.348													A|||	1799	0.359225	0.2496	0.317	5008	,	,		18562	0.7063		0.1262	False		,,,				2504	0.4192				p.M121V		Atlas-SNP	.											.	TYW3	36	.	0			c.A361G						PASS	.	A	VAL/MET,VAL/MET	987,3419	369.8+/-319.3	108,771,1324	109	110	110		262,361	5	1	1	dbSNP_86	110	962,7638	209.0+/-250.3	49,864,3387	yes	missense,missense	TYW3	NM_001162916.1,NM_138467.2	21,21	157,1635,4711	GG,GA,AA		11.186,22.4013,14.9854	benign,benign	88/227,121/260	75214441	1949,11057	2203	4300	6503	SO:0001583	missense	127253	exon4			CATTCCATGGCAA	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.361A>G	1.37:g.75214441A>G	ENSP00000359904:p.Met121Val	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	283	136	0.480565	NM_138467	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	CCDS666.1	717	0.3282967032967033	110	0.22357723577235772	99	0.27348066298342544	402	0.7027972027972028	106	0.13984168865435356	A	0.319	-0.962859	0.02249	0.224013	0.11186	ENSG00000162623	ENST00000457880;ENST00000370867	T;T	0.24723	1.84;1.84	5.94	5.03	0.67393	tRNA wybutosine-synthesizing protein (2);	0.105878	0.64402	N	0.000005	T	0.01421	0.0046	N	0.00086	-2.195	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40117	-0.9580	9	0.02654	T	1	-5.3508	14.4234	0.67200	0.072:0.0:0.928:0.0	rs11538280	88;121	E9PGR7;Q6IPR3	.;TYW3_HUMAN	V	88;121	ENSP00000407025:M88V;ENSP00000359904:M121V	ENSP00000359904:M121V	M	+	1	0	TYW3	74987029	1.000000	0.71417	0.997000	0.53966	0.248000	0.25809	5.631000	0.67812	1.528000	0.49103	-0.252000	0.11476	ATG	A|0.763;G|0.237	0.237	strong		0.348	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		G	75214441	A	G	75214441	3	3	22	1	0	0	0	0	1	0	0	0	16817	217	8	2	375	2	TYW3	1	75214441	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38555	75214441	174036180	424	5532										
LHX8	431707	hgsc.bcm.edu	37	chr1	75622616	75622616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcacgccacaagaaacaCgtcagtcctaatcactcatc	6	14	3	2	rs941032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:75622616C>T	ENST00000294638.5	+	9	1513	c.849C>T	c.(847-849)caC>caT	p.H283H	LHX8_ENST00000356261.3_Silent_p.H273H	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	283					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACAAGAAACACGTCAGTCCTA	0.502													C|||	1973	0.39397	0.4758	0.3026	5008	,	,		17790	0.2063		0.3907	False		,,,				2504	0.545				p.H283H		Atlas-SNP	.											.	LHX8	73	.	0			c.C849T						PASS	.	C		2044,2362	566.8+/-382.0	484,1076,643	291	261	272		849	-3	0.8	1	dbSNP_86	272	3551,5049	517.5+/-379.0	748,2055,1497	yes	coding-synonymous	LHX8	NM_001001933.1		1232,3131,2140	TT,TC,CC		41.2907,46.3913,43.0186		283/357	75622616	5595,7411	2203	4300	6503	SO:0001819	synonymous_variant	431707	exon9			GAAACACGTCAGT	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.849C>T	1.37:g.75622616C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	187	187	1	NM_001001933	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																			C|0.598;N|0.000	.	strong		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		T	75622616	C	T	75622616	2	4	22	1	0	0	0	0	0	0	0	1	8776	535	19	1		1	LHX8	1	75622616	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	408175	75622616	173628005	425	5533										
ST6GALNAC3	256435	hgsc.bcm.edu	37	chr1	76878097	76878097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaagaaggaaactgggaaGgacaggtgagccctctctga	13	7	1	3	rs17098940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:76878097G>A	ENST00000328299.3	+	3	766	c.618G>A	c.(616-618)aaG>aaA	p.K206K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	206					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAACTGGGAAGGACAGGTGAG	0.383													A|||	213	0.0425319	0.1558	0.0101	5008	,	,		18401	0.0		0.0	False		,,,				2504	0.0				p.K206K		Atlas-SNP	.											.	ST6GALNAC3	71	.	0			c.G618A						PASS	.	A	,	562,3844		36,490,1677	45	43	44		618,618	2.4	1	1	dbSNP_123	44	4,8590		0,4,4293	no	coding-synonymous,coding-synonymous	ST6GALNAC3	NM_001160011.1,NM_152996.2	,	36,494,5970	AA,AG,GG		0.0465,12.7553,4.3538	,	206/211,206/306	76878097	566,12434	2203	4297	6500	SO:0001819	synonymous_variant	256435	exon3			TGGGAAGGACAGG		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.618G>A	1.37:g.76878097G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_001160011	Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	CCDS672.1																																																																																			G|0.955;A|0.045	0.045	strong		0.383	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		A	76878097	G	A	76878097	2	1	22	1	0	0	0	0	0	0	0	1	15224	991	35	2		2	ST6GALNAC3	1	76878097	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1255481	76878097	172372524	426	5534										
USP33	23032	hgsc.bcm.edu	37	chr1	78184325	78184325	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacttcactccatttctcaAcctaaggggagaaaagagaa	7	9	2	2	rs12142671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:78184325A>G	ENST00000370793.1	-	17	2132	c.1786T>C	c.(1786-1788)Ttg>Ctg	p.L596L	USP33_ENST00000370792.3_Splice_Site_p.L588L|USP33_ENST00000357428.1_Splice_Site_p.L596L|USP33_ENST00000370794.3_Splice_Site_p.L565L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	596	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCATTTCTCAACCTAAGGGGA	0.303													A|||	1781	0.355631	0.4433	0.1988	5008	,	,		18363	0.2698		0.2744	False		,,,				2504	0.5204				p.L596L	Melanoma(152;72 1870 11110 26780 42647)	Atlas-SNP	.											.	USP33	87	.	0			c.T1786C						PASS	.	A	,,	1765,2635	488.8+/-361.3	373,1019,808	40	45	43		1786,1693,1762	2.5	1	1	dbSNP_120	43	2128,6452	353.5+/-329.1	289,1550,2451	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	USP33	NM_015017.3,NM_201624.1,NM_201626.1	,,	662,2569,3259	GG,GA,AA		24.8019,40.1136,29.9923	,,	596/943,565/912,588/829	78184325	3893,9087	2200	4290	6490	SO:0001630	splice_region_variant	23032	exon17			TTCTCAACCTAAG	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1785-1T>C	1.37:g.78184325A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	180	179	0.994444	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1																																																																																			A|0.689;G|0.311	0.311	strong		0.303	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	Silent	G	78184325	A	G	78184325	5	3	22	1	0	0	0	0	0	0	1	0	17061	57	2	2	1090	2	USP33	1	78184325	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1306228	78184325	171066296	427	5535										
USP33	23032	hgsc.bcm.edu	37	chr1	78201745	78201745	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaggattaatttacctctGgccctaagttcatcttcttc	5	12	4	0	rs2296227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:78201745G>T	ENST00000370793.1	-	7	889	c.543C>A	c.(541-543)gcC>gcA	p.A181A	USP33_ENST00000370792.3_Silent_p.A181A|USP33_ENST00000357428.1_Silent_p.A181A|USP33_ENST00000370794.3_Silent_p.A150A	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	181					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTACCTCTGGCCCTAAGTT	0.358													T|||	2451	0.489417	0.7451	0.2608	5008	,	,		15784	0.4077		0.332	False		,,,				2504	0.5521				p.A181A	Melanoma(152;72 1870 11110 26780 42647)	Atlas-SNP	.											.	USP33	87	.	0			c.C543A						PASS	.	T	,,	2980,1426	464.3+/-353.8	1026,928,249	126	121	123		543,450,543	1.3	1	1	dbSNP_100	123	2594,6006	688.8+/-404.3	428,1738,2134	no	coding-synonymous,coding-synonymous,coding-synonymous	USP33	NM_015017.3,NM_201624.1,NM_201626.1	,,	1454,2666,2383	TT,TG,GG		30.1628,32.365,42.8571	,,	181/943,150/912,181/829	78201745	5574,7432	2203	4300	6503	SO:0001819	synonymous_variant	23032	exon7			ACCTCTGGCCCTA	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.543C>A	1.37:g.78201745G>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	155	155	1	NM_201626	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1																																																																																			G|0.550;T|0.450	0.450	strong		0.358	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		T	78201745	G	T	78201745	2	4	22	1	0	0	0	0	0	0	0	1	17061	1335	47	4		4	USP33	1	78201745	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17420	78201745	171048876	428	5536										
PTGFR	5737	hgsc.bcm.edu	37	chr1	78959081	78959081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccttggtgtttcattgtTgtgcaatgcaatcacaggaa	10	8	2	0	rs115994459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:78959081T>C	ENST00000370757.3	+	2	890	c.653T>C	c.(652-654)tTg>tCg	p.L218S	PTGFR_ENST00000370758.1_Missense_Mutation_p.L218S|PTGFR_ENST00000370756.3_Missense_Mutation_p.L218S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	218					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GTTTCATTGTTGTGCAATGCA	0.378													T|||	22	0.00439297	0.0129	0.0058	5008	,	,		20200	0.0		0.001	False		,,,				2504	0.0				p.L218S		Atlas-SNP	.											.	PTGFR	121	.	0			c.T653C						PASS	.	T	SER/LEU,SER/LEU	58,4348	58.1+/-94.6	1,56,2146	62	65	64		653,653	4.7	0.6	1	dbSNP_132	64	0,8600		0,0,4300	yes	missense,missense	PTGFR	NM_000959.3,NM_001039585.1	145,145	1,56,6446	CC,CT,TT		0.0,1.3164,0.4459	benign,benign	218/360,218/298	78959081	58,12948	2203	4300	6503	SO:0001583	missense	5737	exon2			CATTGTTGTGCAA	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.653T>C	1.37:g.78959081T>C	ENSP00000359793:p.Leu218Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_000959	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	9	0.004120879120879121	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	T	12.84	2.059053	0.36373	0.013164	0.0	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.38887	1.11;1.11;1.11	5.85	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.414998	0.24801	N	0.035481	T	0.12817	0.0311	N	0.16903	0.455	0.34244	D	0.677948	B;B	0.16166	0.001;0.016	B;B	0.17433	0.008;0.018	T	0.05784	-1.0864	10	0.33940	T	0.23	-2.4004	11.3546	0.49609	0.0:0.0715:0.0:0.9285	.	218;218	P43088;P43088-2	PF2R_HUMAN;.	S	218	ENSP00000359794:L218S;ENSP00000359793:L218S;ENSP00000359792:L218S	ENSP00000359792:L218S	L	+	2	0	PTGFR	78731669	1.000000	0.71417	0.551000	0.28230	0.878000	0.50629	3.960000	0.56752	1.168000	0.42723	0.533000	0.62120	TTG	T|0.995;C|0.005	0.005	strong		0.378	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		C	78959081	T	C	78959081	3	2	22	1	0	0	0	0	1	0	0	0	12749	1821	63	2	655	2	PTGFR	1	78959081	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	757336	78959081	170291540	429	5537										
IFI44L	10964	hgsc.bcm.edu	37	chr1	79095581	79095581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgtagtggggtctgataTcaccagcataaccgagcggg	14	10	2	1	rs987495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:79095581T>C	ENST00000370751.5	+	4	883	c.704T>C	c.(703-705)aTc>aCc	p.I235T	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	235			I -> T (in dbSNP:rs987495). {ECO:0000269|Ref.1}.		defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGGTCTGATATCACCAGCATA	0.408													T|||	1074	0.214457	0.1195	0.2709	5008	,	,		15403	0.245		0.2505	False		,,,				2504	0.2342				p.I235T		Atlas-SNP	.											IFI44L,NS,carcinoma,-1,1	IFI44L	93	1	0			c.T704C						PASS	.	T	THR/ILE	638,3768	274.9+/-272.2	44,550,1609	81	82	81		704	-5.6	0	1	dbSNP_86	81	2111,6489	364.0+/-333.3	259,1593,2448	yes	missense	IFI44L	NM_006820.2	89	303,2143,4057	CC,CT,TT		24.5465,14.4803,21.1364	benign	235/453	79095581	2749,10257	2203	4300	6503	SO:0001583	missense	10964	exon4			CTGATATCACCAG	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.704T>C	1.37:g.79095581T>C	ENSP00000359787:p.Ile235Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_006820	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	468	0.21428571428571427	45	0.09146341463414634	84	0.23204419889502761	141	0.2465034965034965	198	0.2612137203166227	T	0.144	-1.098806	0.01843	0.144803	0.245465	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.13196	2.82;2.61	2.82	-5.64	0.02466	.	1.995390	0.02289	N	0.070148	T	0.00936	0.0031	N	0.02539	-0.55	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	0.12430	T	0.62	3.8519	4.0787	0.09916	0.406:0.1735:0.0:0.4204	rs987495;rs3766326;rs52810523;rs58826484;rs987495	235	Q53G44	IF44L_HUMAN	T	235;212	ENSP00000359787:I235T;ENSP00000400784:I212T	ENSP00000359787:I235T	I	+	2	0	IFI44L	78868169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.687000	0.01927	-2.136000	0.00810	-2.622000	0.00156	ATC	T|0.785;G|0.001	.	strong		0.408	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		C	79095581	T	C	79095581	3	2	22	1	0	0	0	0	1	0	0	0	7518	1435	50	2	714	2	IFI44L	1	79095581	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136500	79095581	170155040	430	5538										
IFI44	10561	hgsc.bcm.edu	37	chr1	79115905	79115905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgacaactcgtttgacaTggttgcacgaaaagatcctg	10	9	0	3	rs2070123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:79115905T>C	ENST00000370747.4	+	2	110	c.25T>C	c.(25-27)Tgg>Cgg	p.W9R	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	9			W -> R (in dbSNP:rs2070123). {ECO:0000269|PubMed:15489334}.		response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCGTTTGACATGGTTGCACGA	0.353													T|||	610	0.121805	0.1346	0.1138	5008	,	,		17255	0.131		0.0775	False		,,,				2504	0.1462				p.W9R		Atlas-SNP	.											IFI44,NS,carcinoma,-1,1	IFI44	55	1	0			c.T25C						PASS	.	T	ARG/TRP	590,3816	261.9+/-264.6	40,510,1653	102	96	98		25	-0.7	0	1	dbSNP_96	98	703,7897	172.7+/-223.4	27,649,3624	yes	missense	IFI44	NM_006417.4	101	67,1159,5277	CC,CT,TT		8.1744,13.3908,9.9416	possibly-damaging	9/445	79115905	1293,11713	2203	4300	6503	SO:0001583	missense	10561	exon2			TTGACATGGTTGC	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.25T>C	1.37:g.79115905T>C	ENSP00000359783:p.Trp9Arg	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	136	57	0.419118	NM_006417	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	CCDS688.1	237	0.10851648351648352	58	0.11788617886178862	48	0.13259668508287292	73	0.12762237762237763	58	0.07651715039577836	T	4.491	0.091066	0.08632	0.133908	0.081744	ENSG00000137965	ENST00000370747	T	0.08193	3.12	3.32	-0.723	0.11181	.	0.879816	0.09828	N	0.750596	T	0.04272	0.0118	M	0.68952	2.095	0.80722	P	0.0	P;P	0.50272	0.933;0.933	P;P	0.45881	0.496;0.496	T	0.30966	-0.9960	9	0.40728	T	0.16	-0.3873	4.5869	0.12287	0.1923:0.0:0.3963:0.4114	rs2070123;rs2070602;rs17852121;rs52832822;rs2070123	9;9	B7ZB11;Q8TCB0	.;IFI44_HUMAN	R	9	ENSP00000359783:W9R	ENSP00000359783:W9R	W	+	1	0	IFI44	78888493	0.078000	0.21339	0.004000	0.12327	0.003000	0.03518	0.111000	0.15458	-0.137000	0.11455	-0.661000	0.03856	TGG	T|0.891;C|0.109	0.109	strong		0.353	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		C	79115905	T	C	79115905	3	2	22	1	0	0	0	0	1	0	0	0	7517	1464	51	2	27	2	IFI44	1	79115905	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20324	79115905	170134716	431	5539										
ELTD1	64123	hgsc.bcm.edu	37	chr1	79392756	79392756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaatactcttataatataCaaatgcaactgcaacattgc	3	10	1	0	rs12754818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:79392756C>A	ENST00000370742.3	-	8	961	c.898G>T	c.(898-900)Gta>Tta	p.V300L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	300			V -> L (in dbSNP:rs12754818). {ECO:0000269|PubMed:11050079, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTATAATATACAAATGCAACT	0.279													A|||	3108	0.620607	0.4939	0.6844	5008	,	,		16163	0.7044		0.6183	False		,,,				2504	0.6626				p.V300L		Atlas-SNP	.											.	ELTD1	143	.	0			c.G898T						PASS	.	A	LEU/VAL	1884,1704		511,862,421	55	51	52		898	3.7	1	1	dbSNP_121	52	5209,2935		1644,1921,507	yes	missense	ELTD1	NM_022159.3	32	2155,2783,928	AA,AC,CC		36.0388,47.4916,39.5414	benign	300/691	79392756	7093,4639	1794	4072	5866	SO:0001583	missense	64123	exon8			AATATACAAATGC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.898G>T	1.37:g.79392756C>A	ENSP00000359778:p.Val300Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	1361	0.6231684981684982	236	0.4796747967479675	243	0.6712707182320442	414	0.7237762237762237	468	0.6174142480211082	a	2.652	-0.281777	0.05642	0.525084	0.639612	ENSG00000162618	ENST00000370742	T	0.11930	2.73	6.02	3.74	0.42951	Domain of unknown function DUF3497 (1);	0.066165	0.64402	N	0.000012	T	0.00815	0.0027	N	0.00483	-1.445	0.53005	P	3.2999999999949736E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	8	.	.	.	.	5.2641	0.15589	0.5899:0.1427:0.2674:0.0	rs12754818;rs17845775;rs17858735;rs52801657;rs61009919;rs12754818	300	Q9HBW9	ELTD1_HUMAN	L	300	ENSP00000359778:V300L	.	V	-	1	0	ELTD1	79165344	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	1.538000	0.36094	0.187000	0.20147	-0.406000	0.06334	GTA	C|0.374;A|0.625	0.625	strong		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		A	79392756	C	A	79392756	3	1	22	1	0	0	0	0	1	0	0	0	5084	478	17	4	1206	4	ELTD1	1	79392756	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	276851	79392756	169857865	432	5540										
SAMD13	148418	hgsc.bcm.edu	37	chr1	84791374	84791374	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgggccgtgatggatgtCgtcaattatttccgaaccgt	12	9	1	1	rs55638637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:84791374C>T	ENST00000370671.3	+	3	227	c.168C>T	c.(166-168)gtC>gtT	p.V56V	SAMD13_ENST00000394834.3_Silent_p.V36V|SAMD13_ENST00000370669.1_Silent_p.V36V|SAMD13_ENST00000370670.2_Silent_p.V36V|SAMD13_ENST00000370668.3_Silent_p.V36V|SAMD13_ENST00000370673.3_Silent_p.V50V			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	56	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TGATGGATGTCGTCAATTATT	0.478													C|||	213	0.0425319	0.0741	0.0202	5008	,	,		21412	0.001		0.0338	False		,,,				2504	0.0675				p.V50V		Atlas-SNP	.											.	SAMD13	5	.	0			c.C150T						PASS	.	C	,,	279,4127	155.2+/-188.4	12,255,1936	175	148	157		150,108,108	-3.6	1	1	dbSNP_129	157	264,8336	102.3+/-163.5	4,256,4040	no	coding-synonymous,coding-synonymous,coding-synonymous	SAMD13	NM_001010971.2,NM_001134663.1,NM_001134664.1	,,	16,511,5976	TT,TC,CC		3.0698,6.3323,4.175	,,	50/117,36/103,36/103	84791374	543,12463	2203	4300	6503	SO:0001819	synonymous_variant	148418	exon3			GGATGTCGTCAAT		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"Sterile alpha motif (SAM) domain containing"	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.168C>T	1.37:g.84791374C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	235	108	0.459574	NM_001010971	B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Silent	SNP	ENST00000370671.3	37																																																																																				C|0.962;T|0.038	0.038	strong		0.478	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		T	84791374	C	T	84791374	2	4	22	1	0	0	0	0	0	0	0	1	13818	871	31	1		1	SAMD13	1	84791374	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5398618	84791374	164459247	433	5541										
DNASE2B	58511	hgsc.bcm.edu	37	chr1	84878228	84878228	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcggattcttttcttgaCggtatgaaagaccatcatca	8	8	4	3	rs7511984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:84878228C>T	ENST00000370665.3	+	5	777	c.744C>T	c.(742-744)gaC>gaT	p.D248D	DNASE2B_ENST00000370662.3_Splice_Site_p.D40D	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	248					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CTTTTCTTGACGGTATGAAAG	0.438													C|||	679	0.135583	0.2012	0.0937	5008	,	,		18374	0.0119		0.1889	False		,,,				2504	0.1493				p.D248D	Pancreas(54;788 1175 11852 16034 30034)	Atlas-SNP	.											.	DNASE2B	40	.	0			c.C744T						PASS	.	C	,	889,3517	342.3+/-307.1	96,697,1410	71	71	71		744,120	-10.2	0.5	1	dbSNP_116	71	1518,7082	285.5+/-297.2	135,1248,2917	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	DNASE2B	NM_021233.2,NM_058248.1	,	231,1945,4327	TT,TC,CC		17.6512,20.177,18.5068	,	248/362,40/154	84878228	2407,10599	2203	4300	6503	SO:0001630	splice_region_variant	58511	exon5			TCTTGACGGTATG	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.745+1C>T	1.37:g.84878228C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_021233	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																			C|0.841;T|0.159	0.159	strong		0.438	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233	Silent	T	84878228	C	T	84878228	5	4	22	1	0	0	0	0	0	0	1	0	4665	550	19	1	762	1	DNASE2B	1	84878228	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86854	84878228	164372393	434	5542										
DNASE2B	58511	hgsc.bcm.edu	37	chr1	84880380	84880380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagttcttatcaagatcaTgccaagtggtgtatttccca	7	9	4	1	rs3768250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:84880380T>C	ENST00000370665.3	+	6	948	c.915T>C	c.(913-915)caT>caC	p.H305H	DNASE2B_ENST00000370662.3_Silent_p.H97H	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	305					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ATCAAGATCATGCCAAGTGGT	0.413													T|||	1622	0.323882	0.2065	0.3573	5008	,	,		20886	0.4554		0.334	False		,,,				2504	0.3129				p.H305H	Pancreas(54;788 1175 11852 16034 30034)	Atlas-SNP	.											.	DNASE2B	40	.	0			c.T915C						PASS	.	T	,	1037,3369	383.2+/-324.8	123,791,1289	62	60	60		915,291	3	1	1	dbSNP_107	60	3033,5567	466.5+/-366.8	548,1937,1815	no	coding-synonymous,coding-synonymous	DNASE2B	NM_021233.2,NM_058248.1	,	671,2728,3104	CC,CT,TT		35.2674,23.5361,31.2932	,	305/362,97/154	84880380	4070,8936	2203	4300	6503	SO:0001819	synonymous_variant	58511	exon6			AGATCATGCCAAG	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.915T>C	1.37:g.84880380T>C		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	206	98	0.475728	NM_021233	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																			T|0.679;C|0.321	0.321	strong		0.413	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		C	84880380	T	C	84880380	2	2	22	1	0	0	0	0	0	0	0	1	4665	1461	51	2		2	DNASE2B	1	84880380	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2152	84880380	164370241	435	5543										
CTBS	1486	hgsc.bcm.edu	37	chr1	85039955	85039955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggcgaatcgggcggcaGagctcaggctccgggcatgg	19	10	1	1	rs2303307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85039955G>A	ENST00000370630.5	-	1	192	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	48					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCGGGCGGCAGAGCTCAGGCT	0.687													G|||	1373	0.274161	0.2595	0.2464	5008	,	,		8005	0.2302		0.2475	False		,,,				2504	0.3865				p.L48L		Atlas-SNP	.											CTBS,rectum,carcinoma,0,1	CTBS	24	1	0			c.C144T						PASS	.	G		1086,3252		157,772,1240	8	8	8		144	3	1	1	dbSNP_100	8	2129,6387		294,1541,2423	no	coding-synonymous	CTBS	NM_004388.2		451,2313,3663	AA,AG,GG		25.0,25.0346,25.0117		48/386	85039955	3215,9639	2169	4258	6427	SO:0001819	synonymous_variant	1486	exon1			GCGGCAGAGCTCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.144C>T	1.37:g.85039955G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	119	60	0.504202	NM_004388	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																			G|0.741;A|0.259	0.259	strong		0.687	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		A	85039955	G	A	85039955	2	1	22	1	0	0	0	0	0	0	0	1	3999	929	33	2		2	CTBS	1	85039955	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159575	85039955	164210666	436	5544										
CTBS	1486	hgsc.bcm.edu	37	chr1	85040069	85040069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcggcgggctagagacgagGcgccagcgtcgaagctgcgg	18	12	0	1	rs2911592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85040069G>A	ENST00000370630.5	-	1	78	c.30C>T	c.(28-30)cgC>cgT	p.R10R	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	10					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TAGAGACGAGGCGCCAGCGTC	0.756													G|||	1363	0.272165	0.2496	0.2421	5008	,	,		8547	0.2312		0.2455	False		,,,				2504	0.3937				p.R10R		Atlas-SNP	.											.	CTBS	24	.	0			c.C30T						PASS	.	G		612,2646		64,484,1081	3	3	3		30	2.5	0.1	1	dbSNP_101	3	1349,5697		164,1021,2338	no	coding-synonymous	CTBS	NM_004388.2		228,1505,3419	AA,AG,GG		19.1456,18.7845,19.0314		10/386	85040069	1961,8343	1629	3523	5152	SO:0001819	synonymous_variant	1486	exon1			GACGAGGCGCCAG	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.30C>T	1.37:g.85040069G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	20	12	0.6	NM_004388	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																			G|0.761;A|0.239	0.239	strong		0.756	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		A	85040069	G	A	85040069	2	1	22	1	0	0	0	0	0	0	0	1	3999	1190	42	2		2	CTBS	1	85040069	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	114	85040069	164210552	437	5545										
WDR63	126820	hgsc.bcm.edu	37	chr1	85594466	85594466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattccttggacattaagtcGcccttccaccaatgaggtta	7	11	0	1	rs709783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85594466G>A	ENST00000294664.6	+	21	2573	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	WDR63_ENST00000370596.1_Missense_Mutation_p.R759H|WDR63_ENST00000326813.8_Missense_Mutation_p.R759H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	798			R -> H (in dbSNP:rs709783).							NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ACATTAAGTCGCCCTTCCACC	0.323													G|||	1090	0.217652	0.3245	0.2406	5008	,	,		18925	0.2133		0.1829	False		,,,				2504	0.0971				p.R798H		Atlas-SNP	.											WDR63,colon,carcinoma,0,1	WDR63	91	1	0			c.G2393A						PASS	.	G	HIS/ARG	1338,3068	427.6+/-341.6	215,908,1080	76	78	78		2393	3.5	1	1	dbSNP_86	78	1448,7152	274.5+/-291.2	132,1184,2984	yes	missense	WDR63	NM_145172.3	29	347,2092,4064	AA,AG,GG		16.8372,30.3677,21.4209	benign	798/892	85594466	2786,10220	2203	4300	6503	SO:0001583	missense	126820	exon21			TAAGTCGCCCTTC		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2393G>A	1.37:g.85594466G>A	ENSP00000294664:p.Arg798His	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	189	95	0.502645	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	520	0.23809523809523808	160	0.3252032520325203	93	0.2569060773480663	134	0.23426573426573427	133	0.17546174142480211	G	1.362	-0.588500	0.03799	0.303677	0.168372	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.81	3.49	0.39957	.	0.394740	0.30686	N	0.009081	T	0.06050	0.0157	N	0.01529	-0.815	0.37425	P	0.08620499999999998	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.20773	-1.0265	9	0.30078	T	0.28	-11.261	9.9147	0.41427	0.8588:0.0:0.1412:0.0	rs709783;rs11564847;rs17121817;rs57576192;rs709783	759;798	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	H	759;759;798;80	ENSP00000359628:R759H;ENSP00000317463:R759H;ENSP00000294664:R798H;ENSP00000435544:R80H	ENSP00000294664:R798H	R	+	2	0	WDR63	85367054	0.925000	0.31364	1.000000	0.80357	0.760000	0.43138	1.110000	0.31147	0.466000	0.27193	-0.384000	0.06662	CGC	G|0.780;A|0.220	0.220	strong		0.323	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85594466	G	A	85594466	3	1	22	1	0	0	0	0	1	0	0	0	17311	1087	38	1	2471	1	WDR63	1	85594466	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	554397	85594466	163656155	438	5546										
SYDE2	84144	hgsc.bcm.edu	37	chr1	85666156	85666156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggaaggaggggccttccTggcggtctcctttgccactg	15	11	1	1	rs12121540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85666156T>G	ENST00000341460.5	-	1	573	c.524A>C	c.(523-525)cAg>cCg	p.Q175P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	175				Q -> P (in Ref. 3; BAB14711). {ECO:0000305}.	activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGGGCCTTCCTGGCGGTCTCC	0.622													T|||	1525	0.304513	0.1543	0.379	5008	,	,		16400	0.4683		0.2376	False		,,,				2504	0.3548				p.Q175P		Atlas-SNP	.											.	SYDE2	135	.	0			c.A524C						PASS	.	T	PRO/GLN	628,3240		42,544,1348	54	57	56		524	-9.1	0	1	dbSNP_120	56	1975,6311		244,1487,2412	yes	missense	SYDE2	NM_032184.1	76	286,2031,3760	GG,GT,TT		23.8354,16.2358,21.4168	benign	175/1195	85666156	2603,9551	1934	4143	6077	SO:0001583	missense	84144	exon1			CCTTCCTGGCGGT	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.524A>C	1.37:g.85666156T>G	ENSP00000340594:p.Gln175Pro	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	101	52	0.514852	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	657	0.3008241758241758	82	0.16666666666666666	131	0.36187845303867405	278	0.486013986013986	166	0.21899736147757257	T	2.467	-0.322733	0.05350	0.162358	0.238354	ENSG00000097096	ENST00000341460	T	0.06294	3.32	5.07	-9.1	0.00714	.	0.566434	0.15454	N	0.261471	T	0.00524	0.0017	N	0.11201	0.11	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45175	-0.9279	9	0.09843	T	0.71	.	1.9173	0.03300	0.1694:0.1286:0.2964:0.4057	rs12121540	175;175	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	P	175	ENSP00000340594:Q175P	ENSP00000340594:Q175P	Q	-	2	0	SYDE2	85438744	0.001000	0.12720	0.028000	0.17463	0.036000	0.12997	-0.785000	0.04628	-1.318000	0.02289	-1.843000	0.00578	CAG	T|0.705;G|0.295	0.295	strong		0.622	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			G	85666156	T	G	85666156	3	3	22	1	0	0	0	0	1	0	0	0	15433	1580	55	5	3088	5	SYDE2	1	85666156	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	71690	85666156	163584465	439	5547										
C1orf52	148423	hgsc.bcm.edu	37	chr1	85724328	85724328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgtcaagctctggaggCggaggcttcttctcagtggt	14	10	4	0	rs4949926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85724328C>T	ENST00000471115.1	-	2	362	c.354G>A	c.(352-354)ccG>ccA	p.P118P	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Silent_p.P118P	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	118							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCTCTGGAGGCGGAGGCTTCT	0.428													C|||	1126	0.22484	0.1271	0.3156	5008	,	,		13049	0.2956		0.2078	False		,,,				2504	0.2372				p.P118P		Atlas-SNP	.											.	C1orf52	16	.	0			c.G354A						PASS	.	C		598,3808	261.0+/-264.0	36,526,1641	141	133	135		354	-3.8	0.2	1	dbSNP_111	135	1747,6853	319.5+/-314.2	169,1409,2722	no	coding-synonymous	C1orf52	NM_198077.3		205,1935,4363	TT,TC,CC		20.314,13.5724,18.0301		118/183	85724328	2345,10661	2203	4300	6503	SO:0001819	synonymous_variant	148423	exon2			TGGAGGCGGAGGC	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.354G>A	1.37:g.85724328C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	93	34	0.365591	NM_198077	B3KX89|Q8TDK5|Q8TDK6	Silent	SNP	ENST00000471115.1	37	CCDS703.1																																																																																			C|0.810;T|0.190	0.190	strong		0.428	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		T	85724328	C	T	85724328	2	4	22	1	0	0	0	0	0	0	0	1	2044	755	27	1		1	C1orf52	1	85724328	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58172	85724328	163526293	440	5548										
BCL10	8915	hgsc.bcm.edu	37	chr1	85733374	85733374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactagagtttgcacaagttCcttcttcttctaactgtaga	6	10	3	2	rs3768235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:85733374C>T	ENST00000370580.1	-	3	1375	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	213			G -> E (in MALT lymphoma and mesothelioma; dbSNP:rs3768235). {ECO:0000269|PubMed:10319863, ECO:0000269|PubMed:10380921}.		adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.G213E(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TGCACAAGTTCCTTCTTCTTC	0.418			T	IGH@	MALT								C|||	361	0.0720847	0.0023	0.0447	5008	,	,		14270	0.1538		0.0527	False		,,,				2504	0.1217				p.G213E	NSCLC(34;993 1034 12176 32621 50182)	Atlas-SNP	.		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	BCL10,NS,carcinoma,0,2	BCL10	39	2	1	Substitution - Missense(1)	stomach(1)	c.G638A						PASS	.	C	GLU/GLY	58,4348	55.5+/-91.7	0,58,2145	74	78	77		638	-0.9	0.6	1	dbSNP_107	77	487,8113	139.4+/-196.0	19,449,3832	yes	missense	BCL10	NM_003921.4	98	19,507,5977	TT,TC,CC		5.6628,1.3164,4.1904	benign	213/234	85733374	545,12461	2203	4300	6503	SO:0001583	missense	8915	exon3			CAAGTTCCTTCTT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.638G>A	1.37:g.85733374C>T	ENSP00000359612:p.Gly213Glu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	95	37	0.389474	NM_003921	Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	160	0.07326007326007326	3	0.006097560975609756	21	0.058011049723756904	99	0.17307692307692307	37	0.048812664907651716	C	14.86	2.661528	0.47572	0.013164	0.056628	ENSG00000142867	ENST00000370580;ENST00000271015	.	.	.	5.52	-0.914	0.10497	.	1.081190	0.06839	N	0.795318	T	0.03959	0.0111	N	0.03608	-0.345	0.51482	P	7.500000000004725E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	8	0.12766	T	0.61	-6.0907	5.2652	0.15595	0.1443:0.3063:0.0:0.5494	rs3768235;rs3768235	213	O95999	BCL10_HUMAN	E	213	.	ENSP00000271015:G213E	G	-	2	0	BCL10	85505962	0.622000	0.27085	0.615000	0.29064	0.961000	0.63080	0.254000	0.18314	-0.113000	0.11958	0.467000	0.42956	GGA	C|0.942;T|0.058	0.058	strong		0.418	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		T	85733374	C	T	85733374	3	4	22	1	0	0	0	0	1	0	0	0	1362	855	30	2	67	2	BCL10	1	85733374	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9046	85733374	163517247	441	5549										
COL24A1	255631	hgsc.bcm.edu	37	chr1	86591141	86591141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagaatcattttttatgAtatttggaatgcttttgcct	6	5	2	2	rs17128866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:86591141A>G	ENST00000370571.2	-	3	1244	c.878T>C	c.(877-879)aTc>aCc	p.I293T	COL24A1_ENST00000436319.1_Missense_Mutation_p.I293T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	293			I -> T (in dbSNP:rs17128866).		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)		ATTTTTTATGATATTTGGAAT	0.383													A|||	321	0.0640974	0.0227	0.0375	5008	,	,		19786	0.1538		0.0616	False		,,,				2504	0.0491				p.I293T		Atlas-SNP	.											COL24A1,NS,carcinoma,+1,2	COL24A1	202	2	0			c.T878C						PASS	.	A	THR/ILE	93,3577		5,83,1747	111	104	106		878	-0.7	0	1	dbSNP_123	106	637,7565		24,589,3488	yes	missense	COL24A1	NM_152890.5	89	29,672,5235	GG,GA,AA		7.7664,2.5341,6.1489	benign	293/1715	86591141	730,11142	1835	4101	5936	SO:0001583	missense	255631	exon3			TTTATGATATTTG	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.878T>C	1.37:g.86591141A>G	ENSP00000359603:p.Ile293Thr	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	117	64	0.547009	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	183	0.08379120879120878	19	0.03861788617886179	19	0.052486187845303865	94	0.16433566433566432	51	0.06728232189973615	A	0.024	-1.391107	0.01185	0.025341	0.077664	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.95412	-3.7;-3.7	5.27	-0.689	0.11313	.	1.491040	0.04786	N	0.430736	T	0.74382	0.3709	N	0.08118	0	0.80722	P	0.0	B;B	0.24426	0.103;0.012	B;B	0.21917	0.037;0.007	T	0.71981	-0.4428	9	0.19590	T	0.45	.	2.514	0.04663	0.52:0.2221:0.1493:0.1086	rs17128866;rs52821261;rs17128866	293;293	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	293	ENSP00000359603:I293T;ENSP00000392531:I293T	ENSP00000359603:I293T	I	-	2	0	COL24A1	86363729	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.015000	0.12634	-0.024000	0.13941	0.460000	0.39030	ATC	A|0.915;G|0.085	0.085	strong		0.383	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86591141	A	G	86591141	3	3	22	1	0	0	0	0	1	0	0	0	3683	333	12	2	4498	2	COL24A1	1	86591141	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	857767	86591141	162659480	442	5550										
CLCA4	22802	hgsc.bcm.edu	37	chr1	87012929	87012929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttatagatcctagtgtgCcagaagatgaaaaaataatt	8	4	0	4	rs2231580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:87012929C>T	ENST00000370563.3	+	1	169	c.127C>T	c.(127-129)Cca>Tca	p.P43S	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	43			P -> S (in dbSNP:rs2231580).		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCCTAGTGTGCCAGAAGATGA	0.289													C|||	197	0.0393371	0.143	0.0115	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0				p.P43S		Atlas-SNP	.											.	CLCA4	131	.	0			c.C127T						PASS	.	C	SER/PRO	430,3208		15,400,1404	112	103	106		127	2.5	0.9	1	dbSNP_98	106	1,8149		0,1,4074	yes	missense	CLCA4	NM_012128.3	74	15,401,5478	TT,TC,CC		0.0123,11.8197,3.6563	benign	43/920	87012929	431,11357	1819	4075	5894	SO:0001583	missense	22802	exon1			AGTGTGCCAGAAG	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.127C>T	1.37:g.87012929C>T	ENSP00000359594:p.Pro43Ser	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	94	50	0.531915	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	71	0.03250915750915751	67	0.13617886178861788	4	0.011049723756906077	0	0.0	0	0.0	C	13.02	2.111801	0.37242	0.118197	1.23E-4	ENSG00000016602	ENST00000370563	T	0.15487	2.42	5.51	2.51	0.30379	Chloride channel calcium-activated (1);	0.460669	0.22684	N	0.056907	T	0.11324	0.0276	L	0.50993	1.605	0.80722	D	1	P	0.40534	0.72	P	0.53102	0.718	T	0.17961	-1.0352	10	0.34782	T	0.22	-0.5846	2.8316	0.05502	0.1469:0.5502:0.1426:0.1603	rs2231580;rs52821083;rs60157342;rs2231580	43	Q14CN2	CLCA4_HUMAN	S	43	ENSP00000359594:P43S	ENSP00000359594:P43S	P	+	1	0	CLCA4	86785517	0.986000	0.35501	0.942000	0.38095	0.500000	0.33767	0.870000	0.28010	0.336000	0.23639	0.655000	0.94253	CCA	C|0.971;T|0.029	0.029	strong		0.289	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87012929	C	T	87012929	3	4	22	1	0	0	0	0	1	0	0	0	3459	739	26	2	129	2	CLCA4	1	87012929	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	421788	87012929	162237692	443	5551										
CLCA4	22802	hgsc.bcm.edu	37	chr1	87043733	87043733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactgaatagagccgcgtaCataccaggctgggtagtgaa	12	10	0	3	rs2231601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:87043733C>T	ENST00000370563.3	+	12	2142	c.2100C>T	c.(2098-2100)taC>taT	p.Y700Y	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	700					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAGCCGCGTACATACCAGGCT	0.403													C|||	204	0.0407348	0.149	0.0101	5008	,	,		17663	0.0		0.0	False		,,,				2504	0.0				p.Y700Y		Atlas-SNP	.											.	CLCA4	131	.	0			c.C2100T						PASS	.	C		472,3276		21,430,1423	42	41	41		2100	-7	0	1	dbSNP_98	41	0,8218		0,0,4109	no	coding-synonymous	CLCA4	NM_012128.3		21,430,5532	TT,TC,CC		0.0,12.5934,3.9445		700/920	87043733	472,11494	1874	4109	5983	SO:0001819	synonymous_variant	22802	exon12			CGCGTACATACCA	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2100C>T	1.37:g.87043733C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																			C|0.976;T|0.024	0.024	strong		0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87043733	C	T	87043733	2	4	22	1	0	0	0	0	0	0	0	1	3459	489	17	2		2	CLCA4	1	87043733	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30804	87043733	162206888	444	5552										
CLCA4	22802	hgsc.bcm.edu	37	chr1	87045696	87045696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttgatgatgctcttcaaGtaaatactactgatctgtca	7	7	4	3	rs2231604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:87045696G>C	ENST00000370563.3	+	14	2470	c.2428G>C	c.(2428-2430)Gta>Cta	p.V810L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	810			V -> L (in dbSNP:rs2231604). {ECO:0000269|PubMed:15489334}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGCTCTTCAAGTAAATACTAC	0.333													G|||	275	0.0549121	0.1944	0.0115	5008	,	,		18080	0.005		0.0	False		,,,				2504	0.0051				p.V810L		Atlas-SNP	.											.	CLCA4	131	.	0			c.G2428C						PASS	.	G	LEU/VAL	642,3036		52,538,1249	57	51	53		2428	4.9	0.9	1	dbSNP_98	53	2,8174		0,2,4086	yes	missense	CLCA4	NM_012128.3	32	52,540,5335	CC,CG,GG		0.0245,17.4551,5.4328	probably-damaging	810/920	87045696	644,11210	1839	4088	5927	SO:0001583	missense	22802	exon14			CTTCAAGTAAATA	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2428G>C	1.37:g.87045696G>C	ENSP00000359594:p.Val810Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	149	59	0.395973	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	109	0.04990842490842491	102	0.2073170731707317	5	0.013812154696132596	2	0.0034965034965034965	0	0.0	G	14.30	2.494809	0.44352	0.174551	2.45E-4	ENSG00000016602	ENST00000370563	T	0.03717	3.83	5.82	4.91	0.64330	.	0.000000	0.64402	D	0.000001	T	0.04048	0.0113	M	0.80847	2.515	0.09310	P	1.0	P;P	0.47350	0.894;0.894	P;P	0.45071	0.468;0.468	T	0.25398	-1.0133	9	0.44086	T	0.13	-20.4313	10.9104	0.47106	0.071:0.1305:0.7984:0.0	rs2231604;rs52796222;rs2231604	362;810	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	L	810	ENSP00000359594:V810L	ENSP00000359594:V810L	V	+	1	0	CLCA4	86818284	0.999000	0.42202	0.888000	0.34837	0.308000	0.27856	2.265000	0.43311	1.477000	0.48234	-0.237000	0.12165	GTA	G|0.950;C|0.050	0.050	strong		0.333	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		C	87045696	G	C	87045696	3	2	22	1	0	0	0	0	1	0	0	0	3459	1029	36	4	2482	4	CLCA4	1	87045696	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1963	87045696	162204925	445	5553										
CLCA4	22802	hgsc.bcm.edu	37	chr1	87045903	87045908	+	In_Frame_Del	DEL	CCTACT	CCTACT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatgacattgatcctacaCctactcctactcctactcct					rs56040873|rs77594462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCTACT	CCTACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:87045903_87045908delCCTACT	ENST00000370563.3	+	14	2677_2682	c.2635_2640delCCTACT	c.(2635-2640)cctactdel	p.PT885del	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	885					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGAtcctacacctactcctactccta	0.345																																					p.878_880del		Pindel,Atlas-Indel	.											.	CLCA4	131	.	0			c.2634_2639del						PASS	.			2247,6,1315		606,4,1031,1,0,142						-0.9	0		dbSNP_108	97	5524,10,2288		1973,7,1571,1,1,358	no	codingComplex	CLCA4	NM_012128.3		2579,11,2602,2,1,500	A1A1,A1A2,A1R,A2A2,A2R,RR		29.3787,37.0235,31.7735				7771,16,3603				SO:0001651	inframe_deletion	22802	exon14			.	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2635_2640delCCTACT	1.37:g.87045909_87045914delCCTACT	ENSP00000359594:p.Pro885_Thr886del	Somatic	146	.	.		WXS	Illumina HiSeq	Phase_I	181	46	0.254	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	In_Frame_Del	DEL	ENST00000370563.3	37	CCDS41355.1																																																																																			.	.	weak		0.345	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		-	87045908	CCTACT	-	87045903	7	5	22	1	0	1	0	1	0	0	0	0	3459	507	18	0	2689	0	CLCA4	1	87045903	In_Frame_Del	DEL	CCTACT	TCGA-G8-6324-01A-11D-2210-10	207	87045903	162204718	446	5554										
PKN2	5586	hgsc.bcm.edu	37	chr1	89273241	89273241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtttcagtttaatctacAagatttcaggtgttgtgctg	10	5	3	1	rs12085658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89273241A>G	ENST00000370521.3	+	14	2323	c.1964A>G	c.(1963-1965)cAa>cGa	p.Q655R	PKN2_ENST00000370505.3_Missense_Mutation_p.Q498R|PKN2_ENST00000370513.5_Missense_Mutation_p.Q607R|PKN2_ENST00000544045.1_Missense_Mutation_p.Q329R	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	655			Q -> R (in dbSNP:rs12085658).		apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTAATCTACAAGATTTCAGG	0.318													A|||	43	0.00858626	0.0295	0.0058	5008	,	,		16355	0.0		0.0	False		,,,				2504	0.0				p.Q655R		Atlas-SNP	.											.	PKN2	109	.	0			c.A1964G						PASS	.	A	ARG/GLN	90,3516		0,90,1713	150	145	146		1964	5.8	1	1	dbSNP_120	146	0,8134		0,0,4067	yes	missense	PKN2	NM_006256.2	43	0,90,5780	GG,GA,AA		0.0,2.4958,0.7666	benign	655/985	89273241	90,11650	1803	4067	5870	SO:0001583	missense	5586	exon14			ATCTACAAGATTT	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1964A>G	1.37:g.89273241A>G	ENSP00000359552:p.Gln655Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_006256	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	A	15.07	2.724560	0.48833	0.024958	0.0	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.75	5.75	0.90469	Protein kinase-like domain (1);	0.162237	0.28612	U	0.014721	T	0.07728	0.0194	N	0.08118	0	0.36654	D	0.877588	B;B;B	0.22683	0.073;0.073;0.025	B;B;B	0.17098	0.017;0.017;0.013	T	0.09773	-1.0659	10	0.54805	T	0.06	.	16.0549	0.80794	1.0:0.0:0.0:0.0	rs12085658;rs52814429;rs12085658	639;607;655	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	R	655;498;607;329	ENSP00000359552:Q655R;ENSP00000359536:Q498R;ENSP00000359544:Q607R;ENSP00000439643:Q329R	ENSP00000359536:Q498R	Q	+	2	0	PKN2	89045829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.711000	0.61881	2.193000	0.70182	0.477000	0.44152	CAA	A|0.992;G|0.008	0.008	strong		0.318	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		G	89273241	A	G	89273241	3	3	22	1	0	0	0	0	1	0	0	0	11980	130	5	2	2018	2	PKN2	1	89273241	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2227338	89273241	159977380	447	5555										
CCBL2	56267	hgsc.bcm.edu	37	chr1	89426956	89426956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaattacttgcagttcCtctctgttatacacctacac	4	13	2	0	rs12063768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89426956C>T	ENST00000260508.4	-	8	1018	c.681G>A	c.(679-681)gaG>gaA	p.E227E	CCBL2_ENST00000370491.3_Silent_p.E193E|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	227					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CTTGCAGTTCCTCTCTGTTAT	0.373													C|||	192	0.0383387	0.1354	0.0159	5008	,	,		20050	0.0		0.002	False		,,,				2504	0.0				p.E227E		Atlas-SNP	.											.	CCBL2	138	.	0			c.G681A						PASS	.	C	,	437,3969	211.8+/-231.9	23,391,1789	170	163	166		681,579	-0.4	0.9	1	dbSNP_120	166	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	CCBL2	NM_001008661.2,NM_001008662.2	,	23,396,6084	TT,TC,CC		0.0581,9.9183,3.3984	,	227/455,193/421	89426956	442,12564	2203	4300	6503	SO:0001819	synonymous_variant	56267	exon8			CAGTTCCTCTCTG	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.681G>A	1.37:g.89426956C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	90	50	0.555556	NM_001008661	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP	ENST00000260508.4	37	CCDS30766.1																																																																																			C|0.961;T|0.039	0.039	strong		0.373	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		T	89426956	C	T	89426956	2	4	22	1	0	0	0	0	0	0	0	1	2733	680	24	2		2	CCBL2	1	89426956	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	153715	89426956	159823665	448	5556										
RBMXL1	494115	hgsc.bcm.edu	37	chr1	89449168	89449168	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctggttcctccacttccTcctcttccagctccaaaacc	3	21	1	0	rs59048247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89449168T>A	ENST00000321792.5	-	2	769	c.342A>T	c.(340-342)ggA>ggT	p.G114G	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Silent_p.G114G|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	114					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTCCACTTCCTCCTCTTCCAG	0.512													.|||	318	0.0634984	0.2292	0.0187	5008	,	,		19592	0.0		0.002	False		,,,				2504	0.0				p.G114G		Atlas-SNP	.											.	.	.	.	0			c.A342T						PASS	.	T	,,,	876,3530	339.1+/-305.6	83,710,1410	90	98	96		,,342,342	-0.4	0.5	1	dbSNP_129	96	10,8590	7.1+/-27.0	0,10,4290	no	intron,intron,coding-synonymous,coding-synonymous	CCBL2,RBMXL1	NM_001008661.2,NM_001008662.2,NM_001162536.2,NM_019610.5	,,,	83,720,5700	AA,AT,TT		0.1163,19.882,6.8122	,,,	,,114/391,114/391	89449168	886,12120	2203	4300	6503	SO:0001819	synonymous_variant	494115	exon3			ACTTCCTCCTCTT	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.342A>T	1.37:g.89449168T>A		Somatic	394	0	0		WXS	Illumina HiSeq	Phase_I	338	150	0.443787	NM_001162536		Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																			T|0.940;A|0.060	0.060	strong		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		A	89449168	T	A	89449168	2	1	22	1	0	0	0	0	0	0	0	1	13153	1538	54	5		5	RBMXL1	1	89449168	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22212	89449168	159801453	449	5557										
CCBL2	56267	hgsc.bcm.edu	37	chr1	89453966	89453966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatccgaggattttggaaGaagaaattgtcttcaggaat	11	4	2	3	rs74100109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89453966G>A	ENST00000260508.4	-	2	405	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Missense_Mutation_p.S23F|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Intron|CCBL2_ENST00000446900.2_5'UTR|RBMXL1_ENST00000399794.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	23					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GATTTTGGAAGAAGAAATTGT	0.348													G|||	45	0.00898562	0.0318	0.0043	5008	,	,		17385	0.0		0.0	False		,,,				2504	0.0				p.S23F		Atlas-SNP	.											.	CCBL2	138	.	0			c.C68T						PASS	.	G	PHE/SER,,,	148,4258	96.2+/-134.9	4,140,2059	58	64	62		68,,,	4.6	1	1	dbSNP_130	62	0,8600		0,0,4300	yes	missense,intron,utr-5,intron	CCBL2,RBMXL1	NM_001008661.2,NM_001008662.2,NM_001162536.2,NM_019610.5	155,,,	4,140,6359	AA,AG,GG		0.0,3.3591,1.1379	benign,,,	23/455,,,	89453966	148,12858	2203	4300	6503	SO:0001583	missense	56267	exon2			TTGGAAGAAGAAA	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.68C>T	1.37:g.89453966G>A	ENSP00000260508:p.Ser23Phe	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	328	159	0.484756	NM_001008661	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	13	0.005952380952380952	11	0.022357723577235773	2	0.0055248618784530384	0	0.0	0	0.0	G	9.181	1.023703	0.19433	0.033591	0.0	ENSG00000137944	ENST00000260508;ENST00000370485;ENST00000370486	T;T	0.72725	-0.68;-0.52	5.5	4.58	0.56647	.	0.894418	0.09587	N	0.782010	T	0.43233	0.1238	N	0.22421	0.69	0.80722	D	1	B	0.25169	0.119	B	0.24269	0.052	T	0.42447	-0.9451	10	0.52906	T	0.07	-4.0555	9.248	0.37539	0.0959:0.0:0.9041:0.0	.	23	Q6YP21	KAT3_HUMAN	F	23	ENSP00000260508:S23F;ENSP00000359517:S23F	ENSP00000260508:S23F	S	-	2	0	CCBL2	89226554	0.999000	0.42202	0.970000	0.41538	0.267000	0.26476	3.285000	0.51716	2.588000	0.87417	0.650000	0.86243	TCT	G|0.988;A|0.012	0.012	strong		0.348	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		A	89453966	G	A	89453966	3	1	22	1	0	0	0	0	1	0	0	0	2733	942	33	2	1348	2	CCBL2	1	89453966	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4798	89453966	159796655	450	5558										
GBP3	2635	hgsc.bcm.edu	37	chr1	89474818	89474818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagattcagcttttacacAttccactgtggaggaagaag	10	8	1	2	rs17433780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89474818A>G	ENST00000370481.4	-	10	1691	c.1471T>C	c.(1471-1473)Tgt>Cgt	p.C491R		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCTTTTACACATTCCACTGTG	0.403													G|||	1303	0.260184	0.2587	0.2637	5008	,	,		19099	0.2113		0.3201	False		,,,				2504	0.2485				p.C491R		Atlas-SNP	.											.	GBP3	53	.	0			c.T1471C						PASS	.	G	ARG/CYS	1125,3281	717.2+/-408.7	148,829,1226	114	99	104		1471	1.7	0	1	dbSNP_123	104	2722,5878	681.7+/-403.7	401,1920,1979	yes	missense	GBP3	NM_018284.2	180	549,2749,3205	GG,GA,AA		31.6512,25.5334,29.5787	benign	491/596	89474818	3847,9159	2203	4300	6503	SO:0001583	missense	2635	exon10			TTACACATTCCAC	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1471T>C	1.37:g.89474818A>G	ENSP00000359512:p.Cys491Arg	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	209	207	0.990431	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	591	0.2706043956043956	121	0.2459349593495935	110	0.30386740331491713	121	0.21153846153846154	239	0.3153034300791557	G	0.005	-2.172454	0.00315	0.255334	0.316512	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969	T;T	0.01665	4.7;4.7	3.66	1.68	0.24146	Guanylate-binding protein, C-terminal (3);	0.436137	0.23646	N	0.045977	T	0.00109	0.0003	N	0.00030	-2.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14671	-1.0464	9	0.02654	T	1	.	5.9743	0.19369	0.0963:0.0:0.5746:0.329	rs17433780;rs56622173;rs17433780	357;491	F6X827;Q9H0R5	.;GBP3_HUMAN	R	459;491;71	ENSP00000359512:C491R;ENSP00000415087:C71R	ENSP00000359512:C491R	C	-	1	0	GBP3	89247406	0.045000	0.20229	0.027000	0.17364	0.000000	0.00434	0.409000	0.21082	0.025000	0.15241	-0.971000	0.02607	TGT	A|0.714;G|0.286	0.286	strong		0.403	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		G	89474818	A	G	89474818	3	3	22	1	0	0	0	0	1	0	0	0	6275	217	8	2	324	2	GBP3	1	89474818	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20852	89474818	159775803	451	5559										
GBP7	388646	hgsc.bcm.edu	37	chr1	89615023	89615023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatctttgaaggagtactcCatgaagactgcaatggcttc	9	8	1	3	rs74098339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89615023C>G	ENST00000294671.2	-	7	1242	c.1104G>C	c.(1102-1104)atG>atC	p.M368I		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	368						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGAGTACTCCATGAAGACTG	0.453													C|||	43	0.00858626	0.0303	0.0043	5008	,	,		17526	0.0		0.0	False		,,,				2504	0.0				p.M368I		Atlas-SNP	.											.	GBP7	57	.	0			c.G1104C						PASS	.	C	ILE/MET	143,4263	99.8+/-138.5	3,137,2063	97	93	95		1104	3.5	1	1	dbSNP_130	95	0,8600		0,0,4300	no	missense	GBP7	NM_207398.2	10	3,137,6363	GG,GC,CC		0.0,3.2456,1.0995	possibly-damaging	368/639	89615023	143,12863	2203	4300	6503	SO:0001583	missense	388646	exon7			GTACTCCATGAAG	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1104G>C	1.37:g.89615023C>G	ENSP00000294671:p.Met368Ile	Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	235	120	0.510638	NM_207398		Missense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	C	8.920	0.960823	0.18583	0.032456	0.0	ENSG00000213512	ENST00000294671	T	0.02369	4.32	3.54	3.54	0.40534	Guanylate-binding protein, C-terminal (3);	0.154247	0.56097	D	0.000024	T	0.02649	0.0080	M	0.70903	2.155	0.34498	D	0.705737	B	0.32324	0.364	B	0.37943	0.261	T	0.22765	-1.0207	10	0.45353	T	0.12	.	12.621	0.56603	0.0:1.0:0.0:0.0	.	368	Q8N8V2	GBP7_HUMAN	I	368	ENSP00000294671:M368I	ENSP00000294671:M368I	M	-	3	0	GBP7	89387611	0.368000	0.25031	1.000000	0.80357	0.063000	0.16089	0.647000	0.24812	1.819000	0.53055	0.523000	0.50628	ATG	C|0.988;G|0.012	0.012	strong		0.453	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		G	89615023	C	G	89615023	3	3	22	1	0	0	0	0	1	0	0	0	6279	594	21	4	832	4	GBP7	1	89615023	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	140205	89615023	159635598	452	5560										
GBP4	115361	hgsc.bcm.edu	37	chr1	89655783	89655783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctccatgaagactgcaaTggcttccctctcacaggctg	10	13	1	2	rs1831240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89655783T>C	ENST00000355754.6	-	7	1232	c.1135A>G	c.(1135-1137)Att>Gtt	p.I379V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	379			I -> V (in dbSNP:rs1831240).			cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AAGACTGCAATGGCTTCCCTC	0.522													T|||	380	0.0758786	0.2738	0.0231	5008	,	,		19044	0.0		0.002	False		,,,				2504	0.0				p.I379V		Atlas-SNP	.											GBP4,colon,carcinoma,0,1	GBP4	89	1	0			c.A1135G						PASS	.	T	VAL/ILE	1026,3380	378.3+/-322.8	120,786,1297	105	99	101		1135	2.8	0.6	1	dbSNP_92	101	12,8588	8.4+/-32.0	0,12,4288	no	missense	GBP4	NM_052941.4	29	120,798,5585	CC,CT,TT		0.1395,23.2864,7.9809	benign	379/641	89655783	1038,11968	2203	4300	6503	SO:0001583	missense	115361	exon7			CTGCAATGGCTTC	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1135A>G	1.37:g.89655783T>C	ENSP00000359490:p.Ile379Val	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	281	145	0.516014	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	124	0.056776556776556776	115	0.23373983739837398	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	T	6.625	0.483667	0.12581	0.232864	0.001395	ENSG00000162654	ENST00000355754	T	0.02067	4.47	5.07	2.78	0.32641	Guanylate-binding protein, C-terminal (3);	0.361979	0.28589	N	0.014812	T	0.01523	0.0049	M	0.82323	2.585	0.52099	P	5.8000000000002494E-5	B	0.21225	0.053	B	0.22753	0.041	T	0.29761	-1.0001	9	0.35671	T	0.21	.	7.8039	0.29191	0.0:0.1723:0.0:0.8277	rs1831240;rs1831240	379	Q96PP9	GBP4_HUMAN	V	379	ENSP00000359490:I379V	ENSP00000359490:I379V	I	-	1	0	GBP4	89428371	0.289000	0.24334	0.596000	0.28811	0.060000	0.15804	0.162000	0.16501	0.508000	0.28173	-0.250000	0.11733	ATT	T|1.000;|0.000	.	weak		0.522	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		C	89655783	T	C	89655783	3	2	22	1	0	0	0	0	1	0	0	0	6276	1464	51	2	807	2	GBP4	1	89655783	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40760	89655783	159594838	453	5561										
GBP4	115361	hgsc.bcm.edu	37	chr1	89655994	89655994	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acataagtcaccaccagagtCcccagccctgaatcacatat	5	15	2	2	rs1410871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89655994C>T	ENST00000355754.6	-	7	1021	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	308	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCACCAGAGTCCCCAGCCCTG	0.413													C|||	537	0.107228	0.3207	0.0403	5008	,	,		18431	0.0119		0.0298	False		,,,				2504	0.044				p.G308G		Atlas-SNP	.											.	GBP4	89	.	0			c.G924A						PASS	.	C		1199,3207	383.7+/-325.0	172,855,1176	56	58	57		924	-4.2	0	1	dbSNP_88	57	229,8371	89.4+/-151.6	1,227,4072	no	coding-synonymous	GBP4	NM_052941.4		173,1082,5248	TT,TC,CC		2.6628,27.2129,10.9795		308/641	89655994	1428,11578	2203	4300	6503	SO:0001819	synonymous_variant	115361	exon7			CAGAGTCCCCAGC	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.924G>A	1.37:g.89655994C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	156	84	0.538462	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	CCDS721.1																																																																																			C|0.898;T|0.102	0.102	strong		0.413	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		T	89655994	C	T	89655994	2	4	22	1	0	0	0	0	0	0	0	1	6276	842	30	2		2	GBP4	1	89655994	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	211	89655994	159594627	454	5562										
GBP5	115362	hgsc.bcm.edu	37	chr1	89735229	89735229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtctgacatgtggatctCtaaagccatgtctaggatgt	13	7	3	1	rs17130763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:89735229C>G	ENST00000370459.3	-	2	137	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.E4Q			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	4	GTPase domain (Globular). {ECO:0000250}.		E -> Q (in dbSNP:rs17130763).			cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATGTGGATCTCTAAAGCCATG	0.443													C|||	76	0.0151757	0.053	0.0086	5008	,	,		12783	0.0		0.0	False		,,,				2504	0.0				p.E4Q		Atlas-SNP	.											.	GBP5	65	.	0			c.G10C						PASS	.	C	GLN/GLU,GLN/GLU	202,4204	125.3+/-162.5	4,194,2005	169	164	166		10,10	1.5	0	1	dbSNP_123	166	0,8600		0,0,4300	yes	missense,missense	GBP5	NM_001134486.2,NM_052942.3	29,29	4,194,6305	GG,GC,CC		0.0,4.5847,1.5531	benign,benign	4/587,4/587	89735229	202,12804	2203	4300	6503	SO:0001583	missense	115362	exon3			GGATCTCTAAAGC	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.10G>C	1.37:g.89735229C>G	ENSP00000359488:p.Glu4Gln	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	137	72	0.525547	NM_052942	B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	CCDS722.1	25	0.011446886446886446	21	0.042682926829268296	4	0.011049723756906077	0	0.0	0	0.0	C	11.40	1.626401	0.28978	0.045847	0.0	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.66099	0.36;0.36;-0.19	5.0	1.48	0.22813	.	0.954043	0.08802	N	0.891614	T	0.35008	0.0917	M	0.62154	1.92	0.09310	N	1	B	0.20052	0.041	B	0.22152	0.038	T	0.32693	-0.9897	10	0.33141	T	0.24	-0.4944	5.2406	0.15469	0.1544:0.6219:0.0:0.2237	rs17130763;rs17130763	4	Q96PP8	GBP5_HUMAN	Q	4	ENSP00000340396:E4Q;ENSP00000359488:E4Q;ENSP00000403010:E4Q	ENSP00000340396:E4Q	E	-	1	0	GBP5	89507817	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.226000	0.17776	0.521000	0.28445	0.655000	0.94253	GAG	C|0.976;G|0.024	0.024	strong		0.443	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		G	89735229	C	G	89735229	3	3	22	1	0	0	0	0	1	0	0	0	6277	922	32	4	1790	4	GBP5	1	89735229	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79235	89735229	159515392	455	5563										
LRRC8B	23507	hgsc.bcm.edu	37	chr1	90049088	90049088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgactgttcagttgatgtGcaggcttttacaggatataa	10	6	1	1	rs35903285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:90049088G>A	ENST00000330947.2	+	5	1239	c.879G>A	c.(877-879)gtG>gtA	p.V293V	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.V293V|LRRC8B_ENST00000358200.4_Silent_p.V293V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	293					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CAGTTGATGTGCAGGCTTTTA	0.353													G|||	110	0.0219649	0.0787	0.0086	5008	,	,		22049	0.0		0.0	False		,,,				2504	0.0				p.V293V		Atlas-SNP	.											.	LRRC8B	49	.	0			c.G879A						PASS	.	G	,	315,4091	167.3+/-198.3	12,291,1900	154	153	153		879,879	-0.2	0.9	1	dbSNP_126	153	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	LRRC8B	NM_001134476.1,NM_015350.2	,	12,295,6196	AA,AG,GG		0.0465,7.1493,2.4527	,	293/804,293/804	90049088	319,12687	2203	4300	6503	SO:0001819	synonymous_variant	23507	exon5			TGATGTGCAGGCT	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.879G>A	1.37:g.90049088G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	94	43	0.457447	NM_015350	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																			G|0.976;A|0.024	0.024	strong		0.353	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		A	90049088	G	A	90049088	2	1	22	1	0	0	0	0	0	0	0	1	9022	1306	46	2		2	LRRC8B	1	90049088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313859	90049088	159201533	456	5564										
LRRC8C	84230	hgsc.bcm.edu	37	chr1	90179470	90179470	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaaatcacagagttgcaAtctctaaaacttgaaatcat	5	7	3	3	rs34576461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:90179470A>G	ENST00000370454.4	+	3	1596	c.1341A>G	c.(1339-1341)caA>caG	p.Q447Q	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	447					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CAGAGTTGCAATCTCTAAAAC	0.423													A|||	99	0.0197684	0.0703	0.0086	5008	,	,		19984	0.0		0.0	False		,,,				2504	0.0				p.Q447Q		Atlas-SNP	.											.	LRRC8C	73	.	0			c.A1341G						PASS	.	A		281,4125	158.5+/-191.2	11,259,1933	88	84	85		1341	-0.5	1	1	dbSNP_126	85	0,8600		0,0,4300	no	coding-synonymous	LRRC8C	NM_032270.4		11,259,6233	GG,GA,AA		0.0,6.3777,2.1605		447/804	90179470	281,12725	2203	4300	6503	SO:0001819	synonymous_variant	84230	exon3			GTTGCAATCTCTA		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1341A>G	1.37:g.90179470A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_032270	B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	CCDS725.1																																																																																			A|0.979;G|0.021	0.021	strong		0.423	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		G	90179470	A	G	90179470	2	3	22	1	0	0	0	0	0	0	0	1	9023	98	4	2		2	LRRC8C	1	90179470	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130382	90179470	159071151	457	5565										
ZNF326	284695	hgsc.bcm.edu	37	chr1	90486412	90486412	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattgcagcgcttgcagtgtTtatatccctgctttacatag	8	10	0	0	rs2816881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:90486412T>G	ENST00000340281.4	+	10	1379	c.1236T>G	c.(1234-1236)gtT>gtG	p.V412V	ZNF326_ENST00000455342.2_Silent_p.V206V|ZNF326_ENST00000370447.3_Silent_p.V323V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	412					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTGCAGTGTTTATATCCCTG	0.348													G|||	3471	0.693091	0.6626	0.7205	5008	,	,		18601	0.8909		0.5736	False		,,,				2504	0.6339				p.V412V		Atlas-SNP	.											.	ZNF326	60	.	0			c.T1236G						PASS	.	G		2887,1519	480.8+/-358.9	946,995,262	142	140	141		1236	-1.4	1	1	dbSNP_100	141	4828,3772	534.7+/-382.7	1338,2152,810	no	coding-synonymous	ZNF326	NM_182976.2		2284,3147,1072	GG,GT,TT		43.8605,34.4757,40.6812		412/583	90486412	7715,5291	2203	4300	6503	SO:0001819	synonymous_variant	284695	exon10			CAGTGTTTATATC	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1236T>G	1.37:g.90486412T>G		Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	275	137	0.498182	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	CCDS727.1																																																																																			T|0.355;G|0.645	0.645	strong		0.348	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		G	90486412	T	G	90486412	2	3	22	1	0	0	0	0	0	0	0	1	17843	1828	64	5		5	ZNF326	1	90486412	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	306942	90486412	158764209	458	5566										
ZNF326	284695	hgsc.bcm.edu	37	chr1	90493026	90493026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaggaggatgaagatgaGgaagaagaagcagaggaagt	18	1	0	7	rs10922744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:90493026G>A	ENST00000340281.4	+	12	1658	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	ZNF326_ENST00000455342.2_Silent_p.E299E|ZNF326_ENST00000370447.3_Silent_p.E416E	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	505	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		atgaagatgaggaagaagaag	0.443													G|||	3165	0.631989	0.4667	0.7032	5008	,	,		16829	0.8899		0.5706	False		,,,				2504	0.6022				p.E505E		Atlas-SNP	.											.	ZNF326	60	.	0			c.G1515A						PASS	.	G		2181,2225	583.5+/-385.8	537,1107,559	87	86	87		1515	-9.7	0	1	dbSNP_120	87	4786,3814	610.0+/-395.6	1320,2146,834	no	coding-synonymous	ZNF326	NM_182976.2		1857,3253,1393	AA,AG,GG		44.3488,49.5007,46.4324		505/583	90493026	6967,6039	2203	4300	6503	SO:0001819	synonymous_variant	284695	exon12			AGATGAGGAAGAA	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1515G>A	1.37:g.90493026G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	191	101	0.528796	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	CCDS727.1																																																																																			A|0.588;G|0.412	0.588	strong		0.443	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		A	90493026	G	A	90493026	2	1	22	1	0	0	0	0	0	0	0	1	17843	991	35	2		2	ZNF326	1	90493026	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6614	90493026	158757595	459	5567										
TGFBR3	7049	hgsc.bcm.edu	37	chr1	92177938	92177938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcagcttgcgggataggAaagtgcactctcttgggact	13	8	2	0	rs1805113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:92177938A>G	ENST00000525962.1	-	12	2089	c.2028T>C	c.(2026-2028)ttT>ttC	p.F676F	TGFBR3_ENST00000370399.2_Silent_p.F675F|TGFBR3_ENST00000212355.4_Silent_p.F676F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	676	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCGGGATAGGAAAGTGCACTC	0.428													A|||	1401	0.279752	0.3101	0.2882	5008	,	,		20898	0.0863		0.4304	False		,,,				2504	0.2771				p.F676F		Atlas-SNP	.											.	TGFBR3	103	.	0			c.T2028C						PASS	.	A	,,	1515,2891	481.0+/-359.0	255,1005,943	156	150	152		2025,2025,2028	-0.4	1	1	dbSNP_89	152	3750,4850	533.3+/-382.4	822,2106,1372	no	coding-synonymous,coding-synonymous,coding-synonymous	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	,,	1077,3111,2315	GG,GA,AA		43.6047,34.3849,40.4813	,,	675/851,675/851,676/852	92177938	5265,7741	2203	4300	6503	SO:0001819	synonymous_variant	7049	exon13			GATAGGAAAGTGC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2028T>C	1.37:g.92177938A>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	152	76	0.5	NM_003243	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																			A|0.655;G|0.345	0.345	strong		0.428	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		G	92177938	A	G	92177938	2	3	22	1	0	0	0	0	0	0	0	1	15820	243	9	2		2	TGFBR3	1	92177938	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1684912	92177938	157072683	460	5568										
BRDT	676	hgsc.bcm.edu	37	chr1	92442695	92442695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccaacattcacagaaaaAtcagtggcactgccacctat	5	13	3	1	rs1156281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:92442695A>C	ENST00000362005.3	+	7	1132	c.714A>C	c.(712-714)aaA>aaC	p.K238N	BRDT_ENST00000394530.3_Missense_Mutation_p.K192N|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Missense_Mutation_p.K238N|BRDT_ENST00000370389.2_Missense_Mutation_p.K165N|BRDT_ENST00000399546.2_Missense_Mutation_p.K238N	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	238			K -> N (in dbSNP:rs1156281). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.		cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCACAGAAAAATCAGTGGCAC	0.368													A|||	947	0.189097	0.1513	0.134	5008	,	,		19037	0.3859		0.0755	False		,,,				2504	0.1933				p.K242N		Atlas-SNP	.											.	BRDT	133	.	0			c.A726C						PASS	.	A	ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS	562,3844	244.3+/-253.7	39,484,1680	58	56	57		714,726,576,576,495,714,714	3.2	0.2	1	dbSNP_87	57	497,8103	142.2+/-198.4	18,461,3821	yes	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	94,94,94,94,94,94,94	57,945,5501	CC,CA,AA		5.7791,12.7553,8.1424	benign,benign,benign,benign,benign,benign,benign	238/948,242/952,192/902,192/902,165/875,238/948,238/948	92442695	1059,11947	2203	4300	6503	SO:0001583	missense	676	exon6			AGAAAAATCAGTG	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.714A>C	1.37:g.92442695A>C	ENSP00000354568:p.Lys238Asn	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	129	59	0.457364	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	405	0.18543956043956045	63	0.12804878048780488	41	0.1132596685082873	241	0.42132867132867136	60	0.079155672823219	A	13.80	2.344740	0.41498	0.127553	0.057791	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.11063	3.1;3.1;3.1;3.14;2.81;3.1	5.58	3.21	0.36854	.	1.092130	0.06940	N	0.812580	T	0.06962	0.0177	L	0.34521	1.04	0.42066	P	0.008811000000000013	D;D;P;D	0.53312	0.959;0.959;0.944;0.959	P;P;P;P	0.52343	0.503;0.503;0.696;0.503	T	0.25882	-1.0119	9	0.72032	D	0.01	-3.2232	7.8455	0.29422	0.7881:0.1391:0.0727:0.0	rs1156281;rs52816607;rs58411058;rs1156281	192;192;242;238	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	N	238;165;238;238;192;238;238	ENSP00000354568:K238N;ENSP00000359416:K165N;ENSP00000387822:K238N;ENSP00000378038:K192N;ENSP00000404969:K238N;ENSP00000384051:K238N	ENSP00000354568:K238N	K	+	3	2	BRDT	92215283	0.991000	0.36638	0.150000	0.22450	0.181000	0.23173	2.784000	0.47774	0.467000	0.27218	0.533000	0.62120	AAA	A|0.865;C|0.135	0.135	strong		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		C	92442695	A	C	92442695	3	2	22	1	0	0	0	0	1	0	0	0	1508	98	4	5	732	5	BRDT	1	92442695	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	264757	92442695	156807926	461	5569										
BRDT	676	hgsc.bcm.edu	37	chr1	92445179	92445179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaacctgttgagagtatGcctttatgttacatcaaaac	7	7	1	2	rs114276662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:92445179G>A	ENST00000362005.3	+	9	1570	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	BRDT_ENST00000399546.2_Missense_Mutation_p.M384I|BRDT_ENST00000394530.3_Missense_Mutation_p.M338I|BRDT_ENST00000370389.2_Missense_Mutation_p.M311I|BRDT_ENST00000402388.1_Missense_Mutation_p.M384I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	384					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTGAGAGTATGCCTTTATGTT	0.348													G|||	22	0.00439297	0.0144	0.0029	5008	,	,		16690	0.0		0.001	False		,,,				2504	0.0				p.M388I		Atlas-SNP	.											.	BRDT	133	.	0			c.G1164A						PASS	.	G	ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET	67,4339	61.7+/-98.7	0,67,2136	103	103	103		1152,1164,1014,1014,933,1152,1152	3.5	0	1	dbSNP_133	103	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	10,10,10,10,10,10,10	0,67,6436	AA,AG,GG		0.0,1.5207,0.5151	benign,benign,benign,benign,benign,benign,benign	384/948,388/952,338/902,338/902,311/875,384/948,384/948	92445179	67,12939	2203	4300	6503	SO:0001583	missense	676	exon8			GAGTATGCCTTTA	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1152G>A	1.37:g.92445179G>A	ENSP00000354568:p.Met384Ile	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	206	92	0.446602	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	7.998	0.754682	0.15778	0.015207	0.0	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.09163	3.33;3.34;3.33;3.38;3.01;3.33	5.41	3.49	0.39957	Bromodomain (1);	0.456653	0.24005	N	0.042435	T	0.02230	0.0069	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.18863	0.031;0.031;0.0;0.031	B;B;B;B	0.09377	0.004;0.004;0.002;0.002	T	0.43032	-0.9416	10	0.38643	T	0.18	-0.2883	5.9499	0.19239	0.1483:0.0:0.5637:0.288	.	338;338;388;384	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	384;311;384;384;338;384;384	ENSP00000354568:M384I;ENSP00000359416:M311I;ENSP00000387822:M384I;ENSP00000378038:M338I;ENSP00000404969:M384I;ENSP00000384051:M384I	ENSP00000354568:M384I	M	+	3	0	BRDT	92217767	0.008000	0.16893	0.016000	0.15963	0.543000	0.35085	1.606000	0.36826	0.631000	0.30412	0.655000	0.94253	ATG	G|0.995;A|0.005	0.005	strong		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92445179	G	A	92445179	3	1	22	1	0	0	0	0	1	0	0	0	1508	1319	46	2	1178	2	BRDT	1	92445179	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2484	92445179	156805442	462	5570										
BRDT	676	hgsc.bcm.edu	37	chr1	92467626	92467626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgattctgaacagctctcaAatggcataactgtgatgcat	9	8	2	3	rs78267346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:92467626A>G	ENST00000362005.3	+	17	2726	c.2308A>G	c.(2308-2310)Aat>Gat	p.N770D	BRDT_ENST00000402388.1_Missense_Mutation_p.N770D|BRDT_ENST00000399546.2_Missense_Mutation_p.N770D|BRDT_ENST00000394530.3_Missense_Mutation_p.N724D|BRDT_ENST00000370389.2_Missense_Mutation_p.N697D	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	770					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACAGCTCTCAAATGGCATAAC	0.333													A|||	56	0.0111821	0.0401	0.0029	5008	,	,		17569	0.0		0.001	False		,,,				2504	0.0				p.N774D		Atlas-SNP	.											.	BRDT	133	.	0			c.A2320G						PASS	.	A	ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN	113,4293	86.8+/-125.4	2,109,2092	113	101	105		2308,2320,2170,2170,2089,2308,2308	1.3	0	1	dbSNP_132	105	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	23,23,23,23,23,23,23	2,109,6392	GG,GA,AA		0.0,2.5647,0.8688	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	770/948,774/952,724/902,724/902,697/875,770/948,770/948	92467626	113,12893	2203	4300	6503	SO:0001583	missense	676	exon16			CTCTCAAATGGCA	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2308A>G	1.37:g.92467626A>G	ENSP00000354568:p.Asn770Asp	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	297	159	0.535354	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	A	8.950	0.968040	0.18659	0.025647	0.0	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	3.71	1.32	0.21799	.	0.438833	0.21441	N	0.074491	T	0.18341	0.0440	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.33694	0.421;0.421;0.16;0.421	B;B;B;B	0.29862	0.108;0.108;0.045;0.055	T	0.14504	-1.0470	10	0.18710	T	0.47	-3.342	3.8025	0.08764	0.6439:0.235:0.1211:0.0	.	724;724;774;770	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	D	770;697;770;724;770	ENSP00000354568:N770D;ENSP00000359416:N697D;ENSP00000387822:N770D;ENSP00000378038:N724D;ENSP00000384051:N770D	ENSP00000354568:N770D	N	+	1	0	BRDT	92240214	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.214000	0.17541	0.274000	0.22072	0.533000	0.62120	AAT	A|0.988;G|0.012	0.012	strong		0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		G	92467626	A	G	92467626	3	3	22	1	0	0	0	0	1	0	0	0	1508	14	1	2	2366	2	BRDT	1	92467626	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22447	92467626	156782995	463	5571										
RPL5	6125	hgsc.bcm.edu	37	chr1	93299193	93299193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaggatgatagttcgtgtGacaaacagagatatcatttg	10	5	1	3	rs58263806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:93299193G>A	ENST00000370321.3	+	3	255	c.165G>A	c.(163-165)gtG>gtA	p.V55V		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	55					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TAGTTCGTGTGACAAACAGAG	0.368													A|||	121	0.0241613	0.0877	0.0058	5008	,	,		18734	0.0		0.001	False		,,,				2504	0.0				p.V55V		Atlas-SNP	.											.	RPL5	38	.	0			c.G165A						PASS	.	A		313,4093	796.5+/-415.4	11,291,1901	62	68	66		165	1.1	1	1	dbSNP_129	66	4,8596	818.7+/-406.8	0,4,4296	no	coding-synonymous	RPL5	NM_000969.3		11,295,6197	AA,AG,GG		0.0465,7.1039,2.4373		55/298	93299193	317,12689	2203	4300	6503	SO:0001819	synonymous_variant	6125	exon3			TCGTGTGACAAAC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.165G>A	1.37:g.93299193G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	70	25	0.357143	NM_000969	Q32LZ3|Q53HH6|Q9H3F4	Silent	SNP	ENST00000370321.3	37	CCDS741.1																																																																																			G|0.977;A|0.023	0.023	strong		0.368	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		A	93299193	G	A	93299193	2	1	22	1	0	0	0	0	0	0	0	1	13597	1277	45	2		2	RPL5	1	93299193	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	831567	93299193	155951428	464	5572										
CCDC18	343099	hgsc.bcm.edu	37	chr1	93720153	93720153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaaagaacacaacaaagGatgaaagaaatggagagtgt	11	3	0	5	rs61729705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:93720153G>T	ENST00000343253.7	+	24	3823	c.3321G>T	c.(3319-3321)agG>agT	p.R1107S	CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.R1108S|CCDC18_ENST00000557479.1_Missense_Mutation_p.R1226S			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1107										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CACAACAAAGGATGAAAGAAA	0.323													G|||	487	0.0972444	0.3366	0.0288	5008	,	,		19033	0.0159		0.002	False		,,,				2504	0.0041				p.R1108S		Atlas-SNP	.											.	CCDC18	93	.	0			c.G3324T						PASS	.	G	SER/ARG	1093,2575		157,779,898	125	131	129		3324	0.4	1	1	dbSNP_129	129	13,8157		1,11,4073	yes	missense	CCDC18	NM_206886.3	110	158,790,4971	TT,TG,GG		0.1591,29.7983,9.3428	benign	1108/1300	93720153	1106,10732	1834	4085	5919	SO:0001583	missense	343099	exon24			ACAAAGGATGAAA			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3321G>T	1.37:g.93720153G>T	ENSP00000343377:p.Arg1107Ser	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	200	90	0.45	NM_206886	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		175|175	0.08012820512820513|0.08012820512820513	150|150	0.3048780487804878|0.3048780487804878	12|12	0.03314917127071823|0.03314917127071823	11|11	0.019230769230769232|0.019230769230769232	2|2	0.002638522427440633|0.002638522427440633	G|G	5.074|5.074	0.199375|0.199375	0.09652|0.09652	0.297983|0.297983	0.001591|0.001591	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.02|5.02	0.449|0.449	0.16619|0.16619	.|.	.|0.782786	.|0.12361	.|N	.|0.475673	T|T	0.06462|0.06462	0.0166|0.0166	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	P|P	0.99999902352|0.99999902352	.|P;B	.|0.35575	.|0.51;0.006	.|B;B	.|0.36666	.|0.23;0.005	T|T	0.30149|0.30149	-0.9988|-0.9988	4|8	.|0.21540	.|T	.|0.41	.|.	5.0771|5.0771	0.14638|0.14638	0.5374:0.1787:0.2838:0.0|0.5374:0.1787:0.2838:0.0	rs61729705|rs61729705	.|26;1226	.|Q5T9S4;G3V388	.|.;.	V|S	1161|1107;1108;1226	.|.	.|ENSP00000343377:R1107S	G|R	+|+	2|3	0|2	CCDC18|CCDC18	93492741|93492741	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.453000|0.453000	0.32348|0.32348	0.703000|0.703000	0.25646|0.25646	0.243000|0.243000	0.21327|0.21327	-0.143000|-0.143000	0.13931|0.13931	GGA|AGG	A|0.000;G|0.947;T|0.053	0.053	strong		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		T	93720153	G	T	93720153	3	4	22	1	0	0	0	0	1	0	0	0	2794	1165	41	4	3772	4	CCDC18	1	93720153	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	420960	93720153	155530468	465	5573										
BCAR3	8412	hgsc.bcm.edu	37	chr1	94049576	94049576	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaattccccgaaacataccAatcggcaggtagctctctga	7	12	1	1	rs78645541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:94049576A>G	ENST00000370244.1	-	8	1320	c.1032T>C	c.(1030-1032)atT>atC	p.I344I	BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370247.3_Splice_Site_p.I253I|BCAR3_ENST00000370243.1_Splice_Site_p.I344I|BCAR3_ENST00000260502.6_Splice_Site_p.I344I|BCAR3_ENST00000539242.1_Splice_Site_p.I20I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	344					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GAAACATACCAATCGGCAGGT	0.522													A|||	34	0.00678914	0.025	0.0014	5008	,	,		18298	0.0		0.0	False		,,,				2504	0.0				p.I344I		Atlas-SNP	.											.	BCAR3	62	.	0			c.T1032C						PASS	.	A		122,4284	91.6+/-130.3	1,120,2082	95	93	93		1032	0	0.9	1	dbSNP_131	93	0,8600		0,0,4300	yes	coding-synonymous-near-splice	BCAR3	NM_003567.2		1,120,6382	GG,GA,AA		0.0,2.769,0.938		344/826	94049576	122,12884	2203	4300	6503	SO:0001630	splice_region_variant	8412	exon6			CATACCAATCGGC	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1033+1T>C	1.37:g.94049576A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	146	81	0.554795	NM_001261409	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																			A|0.992;G|0.008	0.008	strong		0.522	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		Silent	G	94049576	A	G	94049576	5	3	22	1	0	0	0	0	0	0	1	0	1349	144	5	2	1473	2	BCAR3	1	94049576	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	329423	94049576	155201045	466	5574										
ABCA4	24	hgsc.bcm.edu	37	chr1	94461717	94461717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcagagggaggtcatgaCtttcagtctgctgtttagca	14	7	3	2	rs6666652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:94461717C>A	ENST00000370225.3	-	49	6850	c.6764G>T	c.(6763-6765)aGt>aTt	p.S2255I	ABCA4_ENST00000536513.1_Missense_Mutation_p.S525I|ABCA4_ENST00000535881.1_Missense_Mutation_p.S374I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2255			S -> I (in dbSNP:rs6666652). {ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11384574, ECO:0000269|PubMed:11385708}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAGGTCATGACTTTCAGTCTG	0.507													A|||	886	0.176917	0.5197	0.0836	5008	,	,		21183	0.0308		0.0457	False		,,,				2504	0.0654				p.S2255I		Atlas-SNP	.											.	ABCA4	275	.	0			c.G6764T	GRCh37	CM023000	ABCA4	M	rs6666652	PASS	.	A	ILE/SER	2105,2301	603.0+/-390.0	505,1095,603	81	79	80		6764	-2	0	1	dbSNP_116	80	400,8200	801.7+/-407.4	11,378,3911	yes	missense	ABCA4	NM_000350.2	142	516,1473,4514	AA,AC,CC		4.6512,47.7758,19.2603	benign	2255/2274	94461717	2505,10501	2203	4300	6503	SO:0001583	missense	24	exon49			TCATGACTTTCAG	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6764G>T	1.37:g.94461717C>A	ENSP00000359245:p.Ser2255Ile	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	39	39	1	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	333	0.15247252747252749	257	0.5223577235772358	31	0.0856353591160221	16	0.027972027972027972	29	0.03825857519788918	A	6.016	0.371274	0.11409	0.477758	0.046512	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.90788	-2.73;-2.26;-2.36	5.76	-1.96	0.07525	.	0.662303	0.15823	N	0.242891	T	0.58935	0.2157	N	0.12746	0.255	0.27272	P	0.9583392	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.45353	T	0.12	.	1.7058	0.02881	0.4404:0.0882:0.2356:0.2358	rs6666652;rs17357750;rs52834333;rs60521300;rs6666652	2255	P78363	ABCA4_HUMAN	I	1047;2255;525;374	ENSP00000359245:S2255I;ENSP00000439707:S525I;ENSP00000443203:S374I	ENSP00000359245:S2255I	S	-	2	0	ABCA4	94234305	0.874000	0.30092	0.048000	0.18961	0.075000	0.17131	0.684000	0.25364	-0.457000	0.07033	-0.525000	0.04345	AGT	C|0.816;A|0.184	0.184	strong		0.507	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94461717	C	A	94461717	3	1	22	1	0	0	0	0	1	0	0	0	34	565	20	4	65	4	ABCA4	1	94461717	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	412141	94461717	154788904	467	5575										
ABCA4	24	hgsc.bcm.edu	37	chr1	94505604	94505604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtccagtccttaccatccAggacttgttctggagttagg	10	12	1	0	rs61750126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:94505604A>C	ENST00000370225.3	-	24	3688	c.3602T>G	c.(3601-3603)cTg>cGg	p.L1201R		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1201			L -> R (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs61750126). {ECO:0000269|PubMed:11384574, ECO:0000269|PubMed:11527935}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTACCATCCAGGACTTGTTC	0.547											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	146	0.0291534	0.1051	0.0101	5008	,	,		20682	0.0		0.0	False		,,,				2504	0.0				p.L1201R		Atlas-SNP	.											.	ABCA4	275	.	0			c.T3602G	GRCh37	CM990042	ABCA4	M	rs61750126	PASS	.	A	ARG/LEU	412,3994	189.5+/-215.6	25,362,1816	131	106	115	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3602	5.5	1	1	dbSNP_129	115	4,8596	2.2+/-6.3	0,4,4296	yes	missense	ABCA4	NM_000350.2	102	25,366,6112	CC,CA,AA		0.0465,9.3509,3.1985	probably-damaging	1201/2274	94505604	416,12590	2203	4300	6503	SO:0001583	missense	24	exon24			CCATCCAGGACTT	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3602T>G	1.37:g.94505604A>C	ENSP00000359245:p.Leu1201Arg	Somatic	92	0	0	1306	WXS	Illumina HiSeq	Phase_I	89	39	0.438202	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	46	0.021062271062271064	44	0.08943089430894309	2	0.0055248618784530384	0	0.0	0	0.0	A	12.19	1.864956	0.32977	0.093509	4.65E-4	ENSG00000198691	ENST00000370225	D	0.86562	-2.14	5.54	5.54	0.83059	.	0.077785	0.50627	D	0.000119	T	0.76983	0.4064	L	0.53249	1.67	0.80722	A	1	B	0.18863	0.031	B	0.24269	0.052	T	0.73228	-0.4049	9	0.27082	T	0.32	.	13.1677	0.59581	1.0:0.0:0.0:0.0	rs61750126	1201	P78363	ABCA4_HUMAN	R	1201	ENSP00000359245:L1201R	ENSP00000359245:L1201R	L	-	2	0	ABCA4	94278192	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	4.771000	0.62318	2.326000	0.78906	0.533000	0.62120	CTG	A|0.968;C|0.032	0.032	strong		0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		C	94505604	A	C	94505604	3	2	22	1	0	0	0	0	1	0	0	0	34	188	7	5	3327	5	ABCA4	1	94505604	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43887	94505604	154745017	468	5576										
SNX7	51375	hgsc.bcm.edu	37	chr1	99150590	99150590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagtcatgttactacaatAgaaactttcattacgtatag	6	6	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:99150590A>G	ENST00000306121.3	+	2	339	c.330A>G	c.(328-330)atA>atG	p.I110M	SNX7_ENST00000370189.5_Missense_Mutation_p.I46M|SNX7_ENST00000529992.1_Missense_Mutation_p.I110M	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	46	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTACTACAATAGAAACTTTCA	0.318																																					p.I110M		Atlas-SNP	.											.	SNX7	76	.	0			c.A330G						PASS	.						80	73	75					1																	99150590		2203	4300	6503	SO:0001583	missense	51375	exon2			TACAATAGAAACT	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.330A>G	1.37:g.99150590A>G	ENSP00000304429:p.Ile110Met	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	184	95	0.516304	NM_015976	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	5.637	0.302207	0.10678	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	0.163	0.14986	.	0.106693	0.64402	D	0.000006	T	0.09335	0.0230	N	0.02213	-0.635	0.48135	D	0.999592	P;B;B	0.44260	0.83;0.0;0.001	P;B;B	0.58210	0.835;0.007;0.019	T	0.19712	-1.0297	10	0.02654	T	1	-24.3064	4.5265	0.11983	0.2744:0.137:0.0:0.5886	.	110;110;46	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	M	46;110;110;46	ENSP00000359208:I46M;ENSP00000434731:I110M;ENSP00000304429:I110M;ENSP00000388266:I46M	ENSP00000304429:I110M	I	+	3	3	SNX7	98923178	0.994000	0.37717	0.996000	0.52242	0.469000	0.32828	0.198000	0.17217	-0.237000	0.09739	-0.451000	0.05528	ATA	.	.	none		0.318	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			G	99150590	A	G	99150590	3	3	22	1	0	0	0	0	1	0	0	0	14907	410	15	3	336	3	SNX7	1	99150590	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4644986	99150590	150100031	469	5577										
SNX7	51375	hgsc.bcm.edu	37	chr1	99164434	99164434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcttcctgttgtacatgaGtacgtgctttatagtgaaat	9	7	0	2	rs6577322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:99164434G>A	ENST00000306121.3	+	6	1020	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	SNX7_ENST00000370189.5_Silent_p.E273E|SNX7_ENST00000529992.1_Silent_p.E282E	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	273					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGTACATGAGTACGTGCTTT	0.418													G|||	1090	0.217652	0.2088	0.2781	5008	,	,		16727	0.0595		0.2654	False		,,,				2504	0.3006				p.E337E		Atlas-SNP	.											.	SNX7	76	.	0			c.G1011A						PASS	.	G	,	964,3442	361.9+/-315.9	100,764,1339	108	95	99		1011,846	1	1	1	dbSNP_116	99	2519,6081	411.3+/-350.5	362,1795,2143	no	coding-synonymous,coding-synonymous	SNX7	NM_015976.4,NM_152238.3	,	462,2559,3482	AA,AG,GG		29.2907,21.8793,26.7799	,	337/452,282/397	99164434	3483,9523	2203	4300	6503	SO:0001819	synonymous_variant	51375	exon6			ACATGAGTACGTG	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1011G>A	1.37:g.99164434G>A		Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	194	110	0.56701	NM_015976	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Silent	SNP	ENST00000306121.3	37	CCDS755.2																																																																																			G|0.762;A|0.238	0.238	strong		0.418	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			A	99164434	G	A	99164434	2	1	22	1	0	0	0	0	0	0	0	1	14907	1020	36	2		2	SNX7	1	99164434	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13844	99164434	150086187	470	5578										
AGL	178	hgsc.bcm.edu	37	chr1	100335977	100335977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctaatagtaaatggatccAggaacatccagaatgtgcct	9	8	0	1	rs17121403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100335977A>G	ENST00000294724.4	+	6	1164	c.686A>G	c.(685-687)cAg>cGg	p.Q229R	AGL_ENST00000361302.3_Missense_Mutation_p.Q213R|AGL_ENST00000361915.3_Missense_Mutation_p.Q229R|AGL_ENST00000361522.4_Missense_Mutation_p.Q212R|AGL_ENST00000370161.2_Missense_Mutation_p.Q213R|AGL_ENST00000370165.3_Missense_Mutation_p.Q229R|AGL_ENST00000370163.3_Missense_Mutation_p.Q229R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	229			Q -> R (in dbSNP:rs17121403).		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAATGGATCCAGGAACATCCA	0.383													A|||	242	0.0483227	0.0998	0.0778	5008	,	,		16767	0.0288		0.0119	False		,,,				2504	0.0153				p.Q229R		Atlas-SNP	.											.	AGL	137	.	0			c.A686G						PASS	.	A	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	386,4020	194.0+/-219.0	16,354,1833	83	82	83	http://www.ncbi.nlm.nih.gov/pubmed?term	686,686,686,686,635,638	4.2	1	1	dbSNP_123	83	162,8438	76.0+/-138.7	3,156,4141	yes	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	43,43,43,43,43,43	19,510,5974	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	1.8837,8.7608,4.2134	benign,benign,benign,benign,benign,benign	229/1533,229/1533,229/1533,229/1533,212/1516,213/1517	100335977	548,12458	2203	4300	6503	SO:0001583	missense	178	exon6			GGATCCAGGAACA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.686A>G	1.37:g.100335977A>G	ENSP00000294724:p.Gln229Arg	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	148	74	0.5	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	81	0.03708791208791209	32	0.06504065040650407	22	0.06077348066298342	18	0.03146853146853147	9	0.011873350923482849	a	4.697	0.129685	0.08981	0.087608	0.018837	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.37	4.23	0.50019	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.366516	0.30620	N	0.009224	T	0.37839	0.1018	N	0.11313	0.125	0.25527	N	0.987316	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.27365	-1.0076	10	0.11182	T	0.66	.	3.3885	0.07281	0.6434:0.1418:0.0787:0.1361	rs17121403;rs52817380;rs17121403	212;213;229	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	229;229;229;229;213;213;212	ENSP00000355106:Q229R;ENSP00000359184:Q229R;ENSP00000359182:Q229R;ENSP00000294724:Q229R;ENSP00000354971:Q213R;ENSP00000359180:Q213R;ENSP00000354635:Q212R	ENSP00000294724:Q229R	Q	+	2	0	AGL	100108565	0.282000	0.24268	0.996000	0.52242	0.994000	0.84299	1.669000	0.37492	0.943000	0.37553	0.477000	0.44152	CAG	A|0.959;G|0.041	0.041	strong		0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100335977	A	G	100335977	3	3	22	1	0	0	0	0	1	0	0	0	384	188	7	3	773	3	AGL	1	100335977	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1171543	100335977	148914644	471	5579										
AGL	178	hgsc.bcm.edu	37	chr1	100353654	100353654	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcagcccttaaatatgcAggtcttcaaggtaagcaaat	9	8	3	0	rs34230588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100353654A>C	ENST00000294724.4	+	21	3280	c.2802A>C	c.(2800-2802)gcA>gcC	p.A934A	AGL_ENST00000361915.3_Silent_p.A934A|AGL_ENST00000361522.4_Silent_p.A917A|AGL_ENST00000370161.2_Silent_p.A918A|AGL_ENST00000370165.3_Silent_p.A934A|AGL_ENST00000370163.3_Silent_p.A934A|AGL_ENST00000361302.3_Silent_p.A918A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	934					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTAAATATGCAGGTCTTCAAG	0.418													A|||	27	0.00539137	0.0204	0.0	5008	,	,		17736	0.0		0.0	False		,,,				2504	0.0				p.A934A		Atlas-SNP	.											.	AGL	137	.	0			c.A2802C						PASS	.	A	,,,,,	97,4309	78.8+/-117.2	1,95,2107	121	115	117		2802,2802,2802,2802,2751,2754	1.8	1	1	dbSNP_126	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	,,,,,	1,95,6407	CC,CA,AA		0.0,2.2015,0.7458	,,,,,	934/1533,934/1533,934/1533,934/1533,917/1516,918/1517	100353654	97,12909	2203	4300	6503	SO:0001819	synonymous_variant	178	exon21			ATATGCAGGTCTT	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2802A>C	1.37:g.100353654A>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																			A|0.994;C|0.006	0.006	strong		0.418	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		C	100353654	A	C	100353654	2	2	22	1	0	0	0	0	0	0	0	1	384	175	7	5		5	AGL	1	100353654	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17677	100353654	148896967	472	5580										
CDC14A	8556	hgsc.bcm.edu	37	chr1	100856380	100856380	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgataggtgcctatgcAgtaagtaccttcttcatgat	8	7	2	2	rs28361212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100856380A>C	ENST00000336454.3	+	4	664	c.309A>C	c.(307-309)gcA>gcC	p.A103A	CDC14A_ENST00000544534.1_Splice_Site_p.A103A|CDC14A_ENST00000370125.2_Splice_Site_p.A103A|CDC14A_ENST00000370124.3_Splice_Site_p.A103A|CDC14A_ENST00000361544.6_Splice_Site_p.A103A|CDC14A_ENST00000542213.1_Splice_Site_p.A45A	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	103	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTGCCTATGCAGTAAGTACCT	0.378													G|||	482	0.096246	0.3533	0.0202	5008	,	,		19271	0.0		0.001	False		,,,				2504	0.0				p.A103A		Atlas-SNP	.											.	CDC14A	65	.	0			c.A309C						PASS	.	G	,,	1374,3032		208,958,1037	99	97	98		309,309,309	-11.2	0.1	1	dbSNP_125	98	3,8597		0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	,,	208,961,5334	CC,CA,AA		0.0349,31.1847,10.5874	,,	103/595,103/624,103/384	100856380	1377,11629	2203	4300	6503	SO:0001630	splice_region_variant	8556	exon4			CTATGCAGTAAGT	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.309+1A>C	1.37:g.100856380A>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_033313	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																			A|0.885;C|0.115	0.115	strong		0.378	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	Silent	C	100856380	A	C	100856380	5	2	22	1	0	0	0	0	0	0	1	0	3056	202	7	5	323	5	CDC14A	1	100856380	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	502726	100856380	148394241	473	5581										
CDC14A	8556	hgsc.bcm.edu	37	chr1	100928421	100928421	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaacaccgaaggggccatCgccgttcactgcaaaggtgt	13	11	1	1	rs74667145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100928421C>T	ENST00000336454.3	+	9	1177	c.822C>T	c.(820-822)atC>atT	p.I274I	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370124.3_Silent_p.I274I|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.I274I|CDC14A_ENST00000542213.1_Silent_p.I216I|CDC14A_ENST00000361544.6_Silent_p.I274I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	274	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAGGGGCCATCGCCGTTCACT	0.527													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18751	0.0		0.0	False		,,,				2504	0.0				p.I274I		Atlas-SNP	.											.	CDC14A	65	.	0			c.C822T						PASS	.	C	,,	20,4386	28.1+/-56.4	0,20,2183	60	51	54		822,822,822	-3.7	0.1	1	dbSNP_132	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	,,	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	,,	274/595,274/624,274/384	100928421	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	8556	exon9			GGCCATCGCCGTT	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.822C>T	1.37:g.100928421C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	73	35	0.479452	NM_033313	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																			C|0.999;T|0.001	0.001	strong		0.527	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		T	100928421	C	T	100928421	2	4	22	1	0	0	0	0	0	0	0	1	3056	874	31	1		1	CDC14A	1	100928421	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72041	100928421	148322200	474	5582										
CDC14A	8556	hgsc.bcm.edu	37	chr1	100933576	100933576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacactacaggtttacacaTgctgaaataattgcttggat	7	7	0	1	rs17122597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100933576T>C	ENST00000336454.3	+	10	1258	c.903T>C	c.(901-903)caT>caC	p.H301H	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Silent_p.H301H|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000370124.3_Silent_p.H301H|CDC14A_ENST00000361544.6_Silent_p.H301H|CDC14A_ENST00000542213.1_Silent_p.H243H	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	301	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GGTTTACACATGCTGAAATAA	0.398													C|||	302	0.0603035	0.2216	0.0086	5008	,	,		20803	0.0		0.003	False		,,,				2504	0.0				p.H301H		Atlas-SNP	.											.	CDC14A	65	.	0			c.T903C						PASS	.	C	,,	894,3512	741.8+/-411.3	94,706,1403	159	159	159		903,903,903	-7.4	0.3	1	dbSNP_123	159	5,8595	819.1+/-406.8	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	,,	94,711,5698	CC,CT,TT		0.0581,20.2905,6.9122	,,	301/595,301/624,301/384	100933576	899,12107	2203	4300	6503	SO:0001819	synonymous_variant	8556	exon10			TACACATGCTGAA	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.903T>C	1.37:g.100933576T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	129	67	0.51938	NM_033313	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																			T|0.931;C|0.069	0.069	strong		0.398	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		C	100933576	T	C	100933576	2	2	22	1	0	0	0	0	0	0	0	1	3056	1461	51	2		2	CDC14A	1	100933576	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5155	100933576	148317045	475	5583										
CDC14A	8556	hgsc.bcm.edu	37	chr1	100949860	100949860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatacagaaaacaagcatcGttgtgggtccaaggagacat	10	7	0	2	rs2270694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:100949860G>A	ENST00000336454.3	+	11	1345	c.990G>A	c.(988-990)tcG>tcA	p.S330S	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370124.3_Silent_p.S330S|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.S330S|CDC14A_ENST00000542213.1_Silent_p.S272S|CDC14A_ENST00000361544.6_Silent_p.S330S	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	330	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACAAGCATCGTTGTGGGTCC	0.328													G|||	442	0.0882588	0.059	0.0965	5008	,	,		17962	0.0625		0.1441	False		,,,				2504	0.091				p.S330S		Atlas-SNP	.											.	CDC14A	65	.	0			c.G990A						PASS	.	G	,,	257,4145	131.4+/-167.9	6,245,1950	39	36	37		990,990,990	-6.6	0.1	1	dbSNP_100	37	1144,7452	220.1+/-257.9	79,986,3233	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	,,	85,1231,5183	AA,AG,GG		13.3085,5.8383,10.7786	,,	330/595,330/624,330/384	100949860	1401,11597	2201	4298	6499	SO:0001819	synonymous_variant	8556	exon11			AGCATCGTTGTGG	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.990G>A	1.37:g.100949860G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	44	19	0.431818	NM_033313	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																			G|0.905;A|0.095	0.095	strong		0.328	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		A	100949860	G	A	100949860	2	1	22	1	0	0	0	0	0	0	0	1	3056	1132	40	1		1	CDC14A	1	100949860	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16284	100949860	148300761	476	5584										
S1PR1	1901	hgsc.bcm.edu	37	chr1	101704772	101704772	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaaaccaagaaattccacCgacccatgtactattttatt	5	10	0	1	rs150493209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:101704772C>A	ENST00000305352.6	+	2	607	c.232C>A	c.(232-234)Cga>Aga	p.R78R	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	78					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAAATTCCACCGACCCATGTA	0.473											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0				p.R78R		Atlas-SNP	.											.	S1PR1	87	.	0			c.C232A						PASS	.	C		5,4401	9.9+/-24.2	0,5,2198	113	115	114		232	5	1	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	S1PR1	NM_001400.4		0,5,6498	AA,AC,CC		0.0,0.1135,0.0384		78/383	101704772	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1901	exon2			TTCCACCGACCCA	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.232C>A	1.37:g.101704772C>A		Somatic	164	0	0	1360	WXS	Illumina HiSeq	Phase_I	139	62	0.446043	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	CCDS777.1																																																																																			C|1.000;A|0.000	0.000	strong		0.473	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		A	101704772	C	A	101704772	2	1	22	1	0	0	0	0	0	0	0	1	13793	644	23	4		4	S1PR1	1	101704772	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	754912	101704772	147545849	477	5585										
OLFM3	118427	hgsc.bcm.edu	37	chr1	102296279	102296279	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcttcaatctgccgaaaTtttgccttcagccctttcat	4	13	6	0	rs10493973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:102296279T>C	ENST00000338858.5	-	3	380	c.381A>G	c.(379-381)aaA>aaG	p.K127K	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.K107K|OLFM3_ENST00000359814.3_Silent_p.K127K|OLFM3_ENST00000536598.1_Silent_p.K32K			Q96PB7	NOE3_HUMAN	olfactomedin 3	127					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCTGCCGAAATTTTGCCTTCA	0.383													C|||	736	0.146965	0.2852	0.1081	5008	,	,		18517	0.0079		0.1779	False		,,,				2504	0.0992				p.K107K		Atlas-SNP	.											.	OLFM3	178	.	0			c.A321G						PASS	.	C		1055,3351	724.9+/-409.6	132,791,1280	207	199	202		321	2.5	1	1	dbSNP_119	202	1546,7054	746.1+/-407.3	148,1250,2902	no	coding-synonymous	OLFM3	NM_058170.2		280,2041,4182	CC,CT,TT		17.9767,23.9446,19.9985		107/459	102296279	2601,10405	2203	4300	6503	SO:0001819	synonymous_variant	118427	exon3			CCGAAATTTTGCC	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.381A>G	1.37:g.102296279T>C		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	163	80	0.490798	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37																																																																																				T|0.824;C|0.176	0.176	strong		0.383	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			C	102296279	T	C	102296279	2	2	22	1	0	0	0	0	0	0	0	1	10854	1490	52	2		2	OLFM3	1	102296279	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	591507	102296279	146954342	478	5586										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103491461	103491461	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttggatttttcctttgaTttagtagccactgtcctcat	6	8	1	1	rs12731843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:103491461T>G	ENST00000370096.3	-	7	1210				COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.K276N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCCTTTGATTTAGTAGCCA	0.348													G|||	397	0.0792732	0.121	0.0418	5008	,	,		18459	0.0675		0.0696	False		,,,				2504	0.0716				p.K276N		Atlas-SNP	.											.	COL11A1	972	.	0			c.A828C						PASS	.	G	,,,ASN/LYS	493,3911	775.0+/-414.1	26,441,1735	115	122	120		,,,828	0.9	1	1	dbSNP_121	120	547,8051	792.8+/-407.5	17,513,3769	yes	intron,intron,intron,missense	COL11A1	NM_001190709.1,NM_001854.3,NM_080630.3,NM_080629.2	,,,94	43,954,5504	GG,GT,TT		6.3619,11.1944,7.9988	,,,benign	,,,276/1819	103491461	1040,11962	2202	4299	6501	SO:0001627	intron_variant	1301	exon6			CTTTGATTTAGTA	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-292A>C	1.37:g.103491461T>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	35	0.636364	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	165	0.07554945054945054	50	0.1016260162601626	18	0.049723756906077346	40	0.06993006993006994	57	0.07519788918205805	G	7.104	0.574635	0.13623	0.111944	0.063619	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.71934	-0.55;-0.61	5.5	0.879	0.19155	.	2.666740	0.00918	N	0.002557	T	0.27798	0.0684	N	0.17474	0.49	0.09310	P	0.999999999999109	B	0.02656	0.0	B	0.01281	0.0	T	0.05517	-1.0880	9	0.17832	T	0.49	.	4.3926	0.11348	0.0677:0.2714:0.3471:0.3138	rs12731843;rs52837620;rs12731843	276	P12107-2	.	N	276	ENSP00000351163:K276N;ENSP00000408640:K276N	ENSP00000351163:K276N	K	-	3	2	COL11A1	103264049	0.987000	0.35691	0.997000	0.53966	0.993000	0.82548	0.028000	0.13644	0.034000	0.15491	-0.137000	0.14449	AAA	T|0.922;G|0.078	0.078	strong		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103491461	T	G	103491461	1	3	22	0	1	0	0	0	0	0	0	0	3667	1490	52	5		5	COL11A1	1	103491461	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1195182	103491461	145759160	479	5587										
VAV3	10451	hgsc.bcm.edu	37	chr1	108138961	108138961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttgtagtactccacaagTtcctttggaaaaaagaatcc	7	9	0	1	rs17229705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:108138961T>C	ENST00000370056.4	-	25	2497	c.2223A>G	c.(2221-2223)gaA>gaG	p.E741E	VAV3_ENST00000527011.1_Silent_p.E741E|VAV3_ENST00000415432.2_Silent_p.E181E|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Silent_p.E145E	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	741	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACTCCACAAGTTCCTTTGGAA	0.378													T|||	184	0.0367412	0.0333	0.0418	5008	,	,		19543	0.002		0.0557	False		,,,				2504	0.0542				p.E741E		Atlas-SNP	.											.	VAV3	176	.	0			c.A2223G						PASS	.	T	,	165,4241	109.9+/-148.2	3,159,2041	109	104	105		543,2223	1.9	1	1	dbSNP_123	105	522,8078	146.0+/-201.7	14,494,3792	no	coding-synonymous,coding-synonymous	VAV3	NM_001079874.1,NM_006113.4	,	17,653,5833	CC,CT,TT		6.0698,3.7449,5.2822	,	181/288,741/848	108138961	687,12319	2203	4300	6503	SO:0001819	synonymous_variant	10451	exon25			CACAAGTTCCTTT	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2223A>G	1.37:g.108138961T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	143	63	0.440559	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1																																																																																			T|0.950;C|0.050	0.050	strong		0.378	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		C	108138961	T	C	108138961	2	2	22	1	0	0	0	0	0	0	0	1	17130	1722	60	2		2	VAV3	1	108138961	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4647500	108138961	141111660	480	5588										
FNDC7	163479	hgsc.bcm.edu	37	chr1	109270563	109270563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaacatggttgagtgcaaTgacactactcctgcgtgcac	9	11	0	2	rs4484951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109270563T>C	ENST00000370017.3	+	7	1522	c.1245T>C	c.(1243-1245)aaT>aaC	p.N415N	FNDC7_ENST00000271311.2_Silent_p.N416N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	415	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TTGAGTGCAATGACACTACTC	0.483													T|||	206	0.0411342	0.1059	0.0245	5008	,	,		23725	0.0		0.0189	False		,,,				2504	0.0307				p.N415N		Atlas-SNP	.											.	FNDC7	113	.	0			c.T1245C						PASS	.	T		390,4016	196.0+/-220.5	15,360,1828	292	247	262		1245	-0.6	1	1	dbSNP_111	262	138,8462	68.4+/-130.8	0,138,4162	no	coding-synonymous	FNDC7	NM_001144937.1		15,498,5990	CC,CT,TT		1.6047,8.8516,4.0597		415/734	109270563	528,12478	2203	4300	6503	SO:0001819	synonymous_variant	163479	exon7			GTGCAATGACACT		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1245T>C	1.37:g.109270563T>C		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	210	105	0.5	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1	79	0.036172161172161175	55	0.11178861788617886	9	0.024861878453038673	0	0.0	15	0.01978891820580475	T	7.396	0.631779	0.14322	0.088516	0.016047	ENSG00000143107	ENST00000445274	.	.	.	5.73	-0.588	0.11687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0088	6.4663	0.21983	0.0:0.311:0.2203:0.4687	rs4484951;rs4484951	.	.	.	R	191	.	.	X	+	1	0	FNDC7	109072086	0.058000	0.20735	0.988000	0.46212	0.647000	0.38526	-0.778000	0.04664	-0.346000	0.08312	0.459000	0.35465	TGA	T|0.959;C|0.041	0.041	strong		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		C	109270563	T	C	109270563	2	2	22	1	0	0	0	0	0	0	0	1	5973	1461	51	2		2	FNDC7	1	109270563	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1131602	109270563	139980058	481	5589										
FNDC7	163479	hgsc.bcm.edu	37	chr1	109273351	109273351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacccagtcagtaatcaaCgtgagctggactattgggag	11	9	3	1	rs76462144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109273351C>A	ENST00000370017.3	+	9	1957	c.1680C>A	c.(1678-1680)aaC>aaA	p.N560K	FNDC7_ENST00000271311.2_Missense_Mutation_p.N561K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	560	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAGTAATCAACGTGAGCTGGA	0.453													C|||	140	0.0279553	0.1006	0.0086	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0				p.N560K		Atlas-SNP	.											FNDC7_ENST00000370017,NS,carcinoma,0,2	FNDC7	113	2	0			c.C1680A						PASS	.	C	LYS/ASN	382,4024	193.3+/-218.5	18,346,1839	151	133	139		1680	-0.3	1	1	dbSNP_131	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FNDC7	NM_001144937.1	94	18,350,6135	AA,AC,CC		0.0465,8.67,2.9679	probably-damaging	560/734	109273351	386,12620	2203	4300	6503	SO:0001583	missense	163479	exon9			AATCAACGTGAGC		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1680C>A	1.37:g.109273351C>A	ENSP00000359034:p.Asn560Lys	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	153	77	0.503268	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	CCDS44185.1	67|67	0.030677655677655676|0.030677655677655676	63|63	0.12804878048780488|0.12804878048780488	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	0|0	0.0|0.0	C|C	19.57|19.57	3.852633|3.852633	0.71719|0.71719	0.0867|0.0867	4.65E-4|4.65E-4	ENSG00000143107|ENSG00000143107	ENST00000370017;ENST00000271311|ENST00000445274	D;D|.	0.99220|.	-5.58;-5.58|.	6.05|6.05	-0.336|-0.336	0.12658|0.12658	Fibronectin, type III (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58337|0.58337	0.2115|0.2115	M|M	0.72894|0.72894	2.215|2.215	0.48135|0.48135	D|D	0.999597|0.999597	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.62300|0.62300	-0.6883|-0.6883	10|5	0.05833|.	T|.	0.94|.	-25.7874|-25.7874	12.6633|12.6633	0.56826|0.56826	0.0:0.563:0.0:0.437|0.0:0.563:0.0:0.437	.|.	561;560|.	Q5VTL7;E9PAZ5|.	FNDC7_HUMAN;.|.	K|S	560;561|336	ENSP00000359034:N560K;ENSP00000271311:N561K|.	ENSP00000271311:N561K|.	N|R	+|+	3|1	2|0	FNDC7|FNDC7	109074874|109074874	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	-1.351000|-1.351000	0.02622|0.02622	0.023000|0.023000	0.15187|0.15187	0.655000|0.655000	0.94253|0.94253	AAC|CGT	A|0.027;C|0.973;T|0.000	0.027	strong		0.453	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		A	109273351	C	A	109273351	3	1	22	1	0	0	0	0	1	0	0	0	5973	535	19	4	1714	4	FNDC7	1	109273351	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2788	109273351	139977270	482	5590										
AKNAD1	254268	hgsc.bcm.edu	37	chr1	109377070	109377070	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggctgcaggacattaccCcagagttagaagacagcctc	10	14	0	3	rs12060255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109377070C>A	ENST00000370001.3	-	9	2013	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	AKNAD1_ENST00000369995.3_Splice_Site_p.G582V|AKNAD1_ENST00000369994.1_Splice_Site_p.G552V|AKNAD1_ENST00000357393.4_Splice_Site_p.G289V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	582			G -> V (in dbSNP:rs12060255).			cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGACATTACCCCAGAGTTAGA	0.443													C|||	666	0.132987	0.2095	0.0951	5008	,	,		18089	0.12		0.1133	False		,,,				2504	0.09				p.G582V		Atlas-SNP	.											.	AKNAD1	83	.	0			c.G1745T						PASS	.	C	VAL/GLY	821,3585	301.8+/-287.1	84,653,1466	63	56	59		1745	0	0	1	dbSNP_120	59	972,7628	196.2+/-241.2	54,864,3382	yes	missense-near-splice	AKNAD1	NM_152763.3	109	138,1517,4848	AA,AC,CC		11.3023,18.6337,13.7859	possibly-damaging	582/837	109377070	1793,11213	2203	4300	6503	SO:0001630	splice_region_variant	254268	exon9			ATTACCCCAGAGT	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1746+1G>T	1.37:g.109377070C>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	43	18	0.418605	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	300	0.13736263736263737	114	0.23170731707317074	37	0.10220994475138122	66	0.11538461538461539	83	0.10949868073878628	C	8.353	0.831248	0.16820	0.186337	0.113023	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.15834	3.17;2.39;3.08;3.15	3.31	-0.038	0.13881	.	.	.	.	.	T	0.02727	0.0082	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B;P	0.37864	0.396;0.61	B;B	0.30029	0.1;0.11	T	0.40079	-0.9582	8	0.42905	T	0.14	5.4051	2.5826	0.04822	0.2287:0.5013:0.0:0.2699	rs12060255	289;582	B4DET8;Q5T1N1	.;AKND1_HUMAN	V	582;289;552;582	ENSP00000359018:G582V;ENSP00000349968:G289V;ENSP00000359011:G552V;ENSP00000359012:G582V	ENSP00000349968:G289V	G	-	2	0	AKNAD1	109178593	0.007000	0.16637	0.001000	0.08648	0.052000	0.14988	0.598000	0.24074	0.207000	0.20607	0.462000	0.41574	GGG	C|0.870;A|0.130	0.130	strong		0.443	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	Missense_Mutation	A	109377070	C	A	109377070	5	1	22	1	0	0	0	0	0	0	1	0	464	637	22	4	797	4	AKNAD1	1	109377070	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103719	109377070	139873551	483	5591										
AKNAD1	254268	hgsc.bcm.edu	37	chr1	109394564	109394564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaacgtgttgcctgaattTgctttttcagtctgctgttt	9	7	2	2	rs17030016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109394564T>C	ENST00000370001.3	-	2	991	c.723A>G	c.(721-723)gcA>gcG	p.A241A	AKNAD1_ENST00000369995.3_Silent_p.A241A|AKNAD1_ENST00000369994.1_Silent_p.A241A|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	241						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCCTGAATTTGCTTTTTCAG	0.388													T|||	383	0.0764776	0.1127	0.0663	5008	,	,		19243	0.0407		0.0537	False		,,,				2504	0.0951				p.A241A		Atlas-SNP	.											.	AKNAD1	83	.	0			c.A723G						PASS	.	T		515,3891	237.4+/-249.2	32,451,1720	154	152	152		723	0.2	0	1	dbSNP_123	152	332,8268	116.3+/-176.0	5,322,3973	no	coding-synonymous	AKNAD1	NM_152763.3		37,773,5693	CC,CT,TT		3.8605,11.6886,6.5124		241/837	109394564	847,12159	2203	4300	6503	SO:0001819	synonymous_variant	254268	exon2			TGAATTTGCTTTT	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.723A>G	1.37:g.109394564T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	111	59	0.531532	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	CCDS791.2																																																																																			T|0.935;C|0.065	0.065	strong		0.388	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		C	109394564	T	C	109394564	2	2	22	1	0	0	0	0	0	0	0	1	464	1799	63	2		2	AKNAD1	1	109394564	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17494	109394564	139856057	484	5592										
AKNAD1	254268	hgsc.bcm.edu	37	chr1	109395230	109395230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgagagaggtccccatcAtaaggcaaatcctcctgctt	8	12	2	2	rs142279898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109395230A>G	ENST00000370001.3	-	2	325	c.57T>C	c.(55-57)taT>taC	p.Y19Y	AKNAD1_ENST00000369995.3_Silent_p.Y19Y|AKNAD1_ENST00000369994.1_Silent_p.Y19Y|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	19						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGTCCCCATCATAAGGCAAAT	0.438													A|||	15	0.00299521	0.0113	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.0				p.Y19Y		Atlas-SNP	.											.	AKNAD1	83	.	0			c.T57C						PASS	.	A		29,4377	33.5+/-64.1	0,29,2174	72	72	72		57	-0.7	1	1	dbSNP_134	72	0,8598		0,0,4299	no	coding-synonymous	AKNAD1	NM_152763.3		0,29,6473	GG,GA,AA		0.0,0.6582,0.223		19/837	109395230	29,12975	2203	4299	6502	SO:0001819	synonymous_variant	254268	exon2			CCCATCATAAGGC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.57T>C	1.37:g.109395230A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	99	49	0.494949	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	CCDS791.2																																																																																			A|0.998;G|0.002	0.002	strong		0.438	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		G	109395230	A	G	109395230	2	3	22	1	0	0	0	0	0	0	0	1	464	224	8	2		2	AKNAD1	1	109395230	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	666	109395230	139855391	485	5593										
GPSM2	29899	hgsc.bcm.edu	37	chr1	109465084	109465084	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagggttctttgacttaTtaagccgatttcaaagcaat	8	6	2	2	rs61758992		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109465084T>A	ENST00000406462.2	+	14	2259	c.1486T>A	c.(1486-1488)Tta>Ata	p.L496I	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.L496I			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	496	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTGACTTATTAAGCCGATT	0.353													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17405	0.0		0.0	False		,,,				2504	0.0				p.L496I		Atlas-SNP	.											.	GPSM2	56	.	0			c.T1486A						PASS	.	T	ILE/LEU	6,4400	9.9+/-24.2	0,6,2197	124	124	124		1486	-3.6	0	1	dbSNP_129	124	0,8600		0,0,4300	yes	missense	GPSM2	NM_013296.4	5	0,6,6497	AA,AT,TT		0.0,0.1362,0.0461	possibly-damaging	496/685	109465084	6,13000	2203	4300	6503	SO:0001583	missense	29899	exon13			GACTTATTAAGCC	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1486T>A	1.37:g.109465084T>A	ENSP00000385510:p.Leu496Ile	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	178	78	0.438202	NM_013296	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	CCDS792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.170507|4.170507	0.78452|0.78452	0.001362|0.001362	0.0|0.0	ENSG00000121957|ENSG00000121957	ENST00000406462;ENST00000264126|ENST00000441735	D;D|.	0.97941|.	-4.62;-4.62|.	6.17|6.17	-3.58|-3.58	0.04597|0.04597	GoLoco motif (3);|.	0.076404|.	0.53938|.	D|.	0.000049|.	T|.	0.26846|.	0.0657|.	L|L	0.53249|0.53249	1.67|1.67	0.25458|0.25458	N|N	0.987941|0.987941	B|.	0.22276|.	0.067|.	B|.	0.25291|.	0.059|.	T|.	0.40794|.	-0.9544|.	10|.	0.54805|.	T|.	0.06|.	-5.8623|-5.8623	11.0483|11.0483	0.47872|0.47872	0.0:0.5338:0.1124:0.3538|0.0:0.5338:0.1124:0.3538	rs61758992|rs61758992	496|.	P81274|.	GPSM2_HUMAN|.	I|X	496|85	ENSP00000385510:L496I;ENSP00000264126:L496I|.	ENSP00000264126:L496I|.	L|Y	+|+	1|3	2|2	GPSM2|GPSM2	109266607|109266607	0.073000|0.073000	0.21202|0.21202	0.000000|0.000000	0.03702|0.03702	0.983000|0.983000	0.72400|0.72400	0.418000|0.418000	0.21230|0.21230	-0.938000|-0.938000	0.03714|0.03714	0.533000|0.533000	0.62120|0.62120	TTA|TAT	T|1.000;A|0.000	0.000	weak		0.353	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		A	109465084	T	A	109465084	3	1	22	1	0	0	0	0	1	0	0	0	6735	1490	52	5	1532	5	GPSM2	1	109465084	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	69854	109465084	139785537	486	5594										
GPSM2	29899	hgsc.bcm.edu	37	chr1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatacagcttcaacaacaaCttcttccactccccctaaaa					rs374875864|rs79761186|rs35029887|rs201481482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109465166_109465168delCTT	ENST00000406462.2	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374																																					p.523_523del		Pindel	.											.	GPSM2	56	.	0			c.1567_1569del						PASS	.			2409,1857		681,1047,405						-3.5	0		dbSNP_126	157	2331,5923		336,1659,2132	no	coding	GPSM2	NM_013296.4		1017,2706,2537	A1A1,A1R,RR		28.2409,43.5302,37.8594				4740,7780				SO:0001651	inframe_deletion	29899	exon13			.	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1568_1570delCTT	1.37:g.109465169_109465171delCTT	ENSP00000385510:p.Ser525del	Somatic	196	.	.		WXS	Illumina HiSeq	Phase_I	146	40	0.274	NM_013296	Q5T1N8|Q6IBL7|Q8N0Z5	In_Frame_Del	DEL	ENST00000406462.2	37	CCDS792.2																																																																																			CTT|0.700;-|0.300	0.300	strong		0.374	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		-	109465168	CTT	-	109465166	7	5	22	1	0	1	0	1	0	0	0	0	6735	565	20	0	1614	0	GPSM2	1	109465166	In_Frame_Del	DEL	CTT	TCGA-G8-6324-01A-11D-2210-10	82	109465166	139785455	487	5595										
CLCC1	23155	hgsc.bcm.edu	37	chr1	109479953	109479953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctgccgtcttctatcccGtggccgaagtgcctggggag	13	14	2	0	rs150665002		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109479953G>A	ENST00000369971.2	-	10	1258	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	CLCC1_ENST00000415331.1_Missense_Mutation_p.R327W|CLCC1_ENST00000369969.2_Missense_Mutation_p.R256W|CLCC1_ENST00000369970.3_Missense_Mutation_p.R327W|CLCC1_ENST00000369968.2_Missense_Mutation_p.R192W|CLCC1_ENST00000356970.2_Missense_Mutation_p.R377W|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.R256W|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.R192W	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	377						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTTCTATCCCGTGGCCGAAGT	0.517													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15244	0.0		0.0	False		,,,				2504	0.0				p.R377W		Atlas-SNP	.											.	CLCC1	55	.	0			c.C1129T						PASS	.	A	TRP/ARG,TRP/ARG	7,4399	11.4+/-27.6	0,7,2196	67	69	68		1129,979	2.7	0	1	dbSNP_134	68	0,8600		0,0,4300	yes	missense,missense	CLCC1	NM_001048210.1,NM_015127.3	101,101	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging,probably-damaging	377/552,327/502	109479953	7,12999	2203	4300	6503	SO:0001583	missense	23155	exon10			TATCCCGTGGCCG	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1129C>T	1.37:g.109479953G>A	ENSP00000358988:p.Arg377Trp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	106	54	0.509434	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	g	6.512	0.462630	0.12402	0.001589	0.0	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.57	2.72	0.32119	.	0.690178	0.15514	N	0.258371	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22851	0.008;0.076;0.008;0.0	B;B;B;B	0.17433	0.006;0.018;0.006;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-3.3681	4.209	0.10502	0.2394:0.4109:0.2766:0.0731	.	192;256;327;377	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	W	377;377;327;256;192;327;192;256	ENSP00000349456:R377W;ENSP00000358988:R377W;ENSP00000411591:R327W;ENSP00000358986:R256W;ENSP00000358985:R192W;ENSP00000358987:R327W;ENSP00000337243:R192W;ENSP00000306552:R256W	ENSP00000306552:R256W	R	-	1	2	CLCC1	109281476	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.037000	0.13840	0.422000	0.26005	-0.820000	0.03113	CGG	G|1.000;A|0.000	0.000	strong		0.517	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		A	109479953	G	A	109479953	3	1	22	1	0	0	0	0	1	0	0	0	3460	1144	40	1	534	1	CLCC1	1	109479953	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14787	109479953	139770668	488	5596										
KIAA1324	57535	hgsc.bcm.edu	37	chr1	109656946	109656946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaacgggaccggagcttcaTgcctgcaaagaggtactgcc	14	11	1	1	rs667524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109656946T>C	ENST00000369939.3	+	1	324	c.141T>C	c.(139-141)caT>caC	p.H47H	C1orf194_ENST00000369949.4_5'Flank|KIAA1324_ENST00000529753.1_Silent_p.H47H|C1orf194_ENST00000369948.3_5'Flank|C1orf194_ENST00000369945.3_5'Flank	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	47					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGAGCTTCATGCCTGCAAAG	0.637													C|||	2690	0.537141	0.7511	0.4841	5008	,	,		15146	0.4812		0.3718	False		,,,				2504	0.5133				p.H47H		Atlas-SNP	.											.	KIAA1324	77	.	0			c.T141C						PASS	.	C		2967,1439		986,995,222	20	22	22		141	4.4	1	1	dbSNP_83	22	3079,5515		586,1907,1804	no	coding-synonymous	KIAA1324	NM_020775.3		1572,2902,2026	CC,CT,TT		35.8273,32.66,46.5077		47/1014	109656946	6046,6954	2203	4297	6500	SO:0001819	synonymous_variant	57535	exon1			GCTTCATGCCTGC	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.141T>C	1.37:g.109656946T>C		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	225	224	0.995556	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																			T|0.512;C|0.488	0.488	strong		0.637	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		C	109656946	T	C	109656946	2	2	22	1	0	0	0	0	0	0	0	1	8223	1461	51	2		2	KIAA1324	1	109656946	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	176993	109656946	139593675	489	5597										
KIAA1324	57535	hgsc.bcm.edu	37	chr1	109740128	109740128	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgtgcaccgacaatgtCactgacctccggattcctga	9	13	2	2	rs61756684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109740128C>G	ENST00000369939.3	+	16	2337	c.2154C>G	c.(2152-2154)gtC>gtG	p.V718V	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.V631V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	718					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCGACAATGTCACTGACCTCC	0.537													C|||	127	0.0253594	0.0885	0.013	5008	,	,		18314	0.0		0.001	False		,,,				2504	0.0				p.V718V		Atlas-SNP	.											.	KIAA1324	77	.	0			c.C2154G						PASS	.	C		339,4067	176.9+/-206.0	9,321,1873	93	95	94		2154	6.1	1	1	dbSNP_129	94	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KIAA1324	NM_020775.3		9,325,6169	GG,GC,CC		0.0465,7.6941,2.6372		718/1014	109740128	343,12663	2203	4300	6503	SO:0001819	synonymous_variant	57535	exon16			CAATGTCACTGAC	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2154C>G	1.37:g.109740128C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	24	0.333333	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																			C|0.975;G|0.025	0.025	strong		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		G	109740128	C	G	109740128	2	3	22	1	0	0	0	0	0	0	0	1	8223	813	29	4		4	KIAA1324	1	109740128	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83182	109740128	139510493	490	5598										
PSRC1	84722	hgsc.bcm.edu	37	chr1	109824361	109824361	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggggtgctccgcgtcaaAgagttcacagtgggcagcag	17	9	2	1	rs11800211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:109824361A>C	ENST00000438534.2	-	4	537	c.399T>G	c.(397-399)tcT>tcG	p.S133S	PSRC1_ENST00000369907.3_Silent_p.S133S|PSRC1_ENST00000409138.2_Silent_p.S133S|PSRC1_ENST00000369909.2_Silent_p.S133S|PSRC1_ENST00000369904.3_Silent_p.S133S|PSRC1_ENST00000409267.1_Silent_p.S133S|PSRC1_ENST00000369903.2_Silent_p.S133S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	133	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCCGCGTCAAAGAGTTCACAG	0.627													A|||	250	0.0499201	0.1831	0.0101	5008	,	,		18059	0.0		0.001	False		,,,				2504	0.0				p.S133S		Atlas-SNP	.											.	PSRC1	12	.	0			c.T399G						PASS	.	A	,,	768,3638	311.9+/-292.3	61,646,1496	59	62	61		399,399,399	0.7	0.9	1	dbSNP_120	61	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	PSRC1	NM_001005290.3,NM_001032291.2,NM_032636.7	,,	61,654,5788	CC,CA,AA		0.093,17.4308,5.9665	,,	133/311,133/334,133/334	109824361	776,12230	2203	4300	6503	SO:0001819	synonymous_variant	84722	exon4			CGTCAAAGAGTTC		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.399T>G	1.37:g.109824361A>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	146	83	0.568493	NM_001032291	Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Silent	SNP	ENST00000438534.2	37																																																																																				A|0.938;C|0.062	0.062	strong		0.627	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		C	109824361	A	C	109824361	2	2	22	1	0	0	0	0	0	0	0	1	12719	59	3	5		5	PSRC1	1	109824361	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84233	109824361	139426260	491	5599										
GSTM5	2949	hgsc.bcm.edu	37	chr1	110257835	110257835	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttggacgccttcctaaaCttgaaggacttcatctcccg					rs386634508|rs67757008|rs78183574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110257835C>T	ENST00000256593.3	+	7	598	c.540C>T	c.(538-540)aaC>aaT	p.N180N	GSTM5_ENST00000369813.1_Silent_p.N139N|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Silent_p.N199N	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	180	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTCCTAAACTTGAAGGACT	0.478													C|||	703	0.140375	0.3941	0.0663	5008	,	,		19824	0.001		0.0845	False		,,,				2504	0.0511				p.N180N		Atlas-SNP	.											GSTM5,brain,glioma,0,2	GSTM5	89	2	0			c.C540T						PASS	.																																			SO:0001819	synonymous_variant	2949	exon7			CCTAAACTTGAAG	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.540C>T	1.37:g.110257835C>T		Somatic	537	2	0.00372439		WXS	Illumina HiSeq	Phase_I	578	286	0.49481	NM_000851	A8K0V8|Q6PD78	Silent	SNP	ENST00000256593.3	37	CCDS811.1																																																																																			C|0.907;T|0.093	0.093	strong		0.478	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		T	110257835	C	T	110257835	2	4	22	1	0	0	0	0	0	0	0	1	6841	564	20	2		2	GSTM5	1	110257835	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	433474	110257835	138992786	492	5600	110	2								
GSTM5	2949	hgsc.bcm.edu	37	chr1	110257836	110257836	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttggacgccttcctaaacTtgaaggacttcatctcccgc					rs386634508|rs67757008|rs61744262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110257836T>C	ENST00000256593.3	+	7	599	c.541T>C	c.(541-543)Ttg>Ctg	p.L181L	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_Silent_p.L140L|GSTM5_ENST00000369812.5_Silent_p.L200L	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	181	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTTCCTAAACTTGAAGGACTT	0.483													T|||	703	0.140375	0.3941	0.0663	5008	,	,		19875	0.001		0.0845	False		,,,				2504	0.0511				p.L181L		Atlas-SNP	.											GSTM5,brain,glioma,0,4	GSTM5	89	4	0			c.T541C						PASS	.						176	197	190					1																	110257836		2203	4300	6503	SO:0001819	synonymous_variant	2949	exon7			CTAAACTTGAAGG	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.541T>C	1.37:g.110257836T>C		Somatic	537	2	0.00372439		WXS	Illumina HiSeq	Phase_I	577	284	0.492201	NM_000851	A8K0V8|Q6PD78	Silent	SNP	ENST00000256593.3	37	CCDS811.1																																																																																			CAAATC|0.500;TAAACT|0.500	.	alt		0.483	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		C	110257836	T	C	110257836	2	2	22	1	0	0	0	0	0	0	0	1	6841	1606	56	3		3	GSTM5	1	110257836	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	110257836	138992785	493	5601	110	2								
EPS8L3	79574	hgsc.bcm.edu	37	chr1	110299691	110299691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaaggttactctcaggtgGgcttagacaggactgtagca	12	9	1	1	rs11102001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110299691G>A	ENST00000361965.4	-	12	1172	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Missense_Mutation_p.P357S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P356S|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	356			P -> S (in dbSNP:rs11102001).			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTCTCAGGTGGGCTTAGACAG	0.587													G|||	787	0.157149	0.4297	0.1254	5008	,	,		17783	0.0089		0.0557	False		,,,				2504	0.0685				p.P357S		Atlas-SNP	.											.	EPS8L3	73	.	0			c.C1069T						PASS	.	G	SER/PRO,SER/PRO,SER/PRO	1606,2800	497.4+/-363.8	317,972,914	130	128	129		1066,1066,1069	4.5	0.3	1	dbSNP_120	129	540,8060	148.8+/-204.0	16,508,3776	yes	missense,missense,missense	EPS8L3	NM_024526.3,NM_133181.3,NM_139053.2	74,74,74	333,1480,4690	AA,AG,GG		6.2791,36.4503,16.5001	benign,benign,benign	356/564,356/594,357/595	110299691	2146,10860	2203	4300	6503	SO:0001583	missense	79574	exon12			CAGGTGGGCTTAG	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1066C>T	1.37:g.110299691G>A	ENSP00000355255:p.Pro356Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	178	177	0.994382	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	306	0.1401098901098901	213	0.4329268292682927	42	0.11602209944751381	7	0.012237762237762238	44	0.05804749340369393	G	11.09	1.537501	0.27475	0.364503	0.062791	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.42131	0.98;0.98;0.98	5.44	4.53	0.55603	.	0.428536	0.27168	N	0.020610	T	0.09730	0.0239	L	0.31926	0.97	0.58432	P	2.9999999999752447E-6	B;B;B;P	0.36683	0.024;0.422;0.021;0.565	B;B;B;B	0.33254	0.031;0.119;0.017;0.16	T	0.08472	-1.0720	9	0.02654	T	1	-3.1063	8.4648	0.32949	0.1763:0.0:0.8237:0.0	rs11102001;rs52793050;rs59692712;rs11102001	356;356;356;357	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	S	356;357;356	ENSP00000354551:P356S;ENSP00000358820:P357S;ENSP00000355255:P356S	ENSP00000354551:P356S	P	-	1	0	EPS8L3	110101214	0.000000	0.05858	0.256000	0.24389	0.704000	0.40688	0.109000	0.15417	1.307000	0.44944	0.585000	0.79938	CCA	G|0.831;A|0.169	0.169	strong		0.587	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		A	110299691	G	A	110299691	3	1	22	1	0	0	0	0	1	0	0	0	5197	1232	43	2	747	2	EPS8L3	1	110299691	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41855	110299691	138950930	494	5602										
EPS8L3	79574	hgsc.bcm.edu	37	chr1	110301260	110301260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccctccatctgtcctggcCtggctgaaggcctccaagtc	9	18	1	1	rs6693815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110301260C>T	ENST00000361965.4	-	7	593	c.487G>A	c.(487-489)Ggc>Agc	p.G163S	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000369805.3_Missense_Mutation_p.G164S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.G163S	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	163			G -> S (in dbSNP:rs6693815). {ECO:0000269|PubMed:12620401}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGTCCTGGCCTGGCTGAAGG	0.607													C|||	1585	0.316494	0.7239	0.2248	5008	,	,		17602	0.0556		0.1918	False		,,,				2504	0.228				p.G164S		Atlas-SNP	.											.	EPS8L3	73	.	0			c.G490A						PASS	.	C	SER/GLY,SER/GLY,SER/GLY	2703,1703	649.4+/-398.9	828,1047,328	52	52	52		487,487,490	-2.2	0	1	dbSNP_116	52	1891,6709	335.0+/-321.2	194,1503,2603	yes	missense,missense,missense	EPS8L3	NM_024526.3,NM_133181.3,NM_139053.2	56,56,56	1022,2550,2931	TT,TC,CC		21.9884,38.6518,35.3222	benign,benign,benign	163/564,163/594,164/595	110301260	4594,8412	2203	4300	6503	SO:0001583	missense	79574	exon7			CCTGGCCTGGCTG	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.487G>A	1.37:g.110301260C>T	ENSP00000355255:p.Gly163Ser	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	38	0.469136	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	637	0.2916666666666667	351	0.7134146341463414	85	0.23480662983425415	39	0.06818181818181818	162	0.21372031662269128	C	13.57	2.277964	0.40294	0.613482	0.219884	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.59772	2.6;0.24;0.25	5.51	-2.18	0.07037	.	1.692000	0.02443	N	0.084779	T	0.07188	0.0182	N	0.02011	-0.69	0.80722	P	0.0	B;B;B;B	0.15473	0.003;0.013;0.001;0.002	B;B;B;B	0.09377	0.001;0.004;0.001;0.004	T	0.07271	-1.0781	9	0.08837	T	0.75	-0.8016	1.3281	0.02129	0.1439:0.3222:0.1401:0.3938	rs6693815;rs6693815	163;163;163;164	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	S	163;164;163	ENSP00000354551:G163S;ENSP00000358820:G164S;ENSP00000355255:G163S	ENSP00000354551:G163S	G	-	1	0	EPS8L3	110102783	0.000000	0.05858	0.003000	0.11579	0.498000	0.33706	-0.846000	0.04336	-0.055000	0.13244	0.655000	0.94253	GGC	C|0.668;T|0.332	0.332	strong		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		T	110301260	C	T	110301260	3	4	22	1	0	0	0	0	1	0	0	0	5197	681	24	2	1346	2	EPS8L3	1	110301260	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1569	110301260	138949361	495	5603										
CSF1	1435	hgsc.bcm.edu	37	chr1	110466776	110466776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatcctggtcttgctggcCgtcggaggcctcttgttcta	12	12	4	0	rs3208449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110466776C>T	ENST00000329608.6	+	6	1924	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	CSF1_ENST00000369801.1_Silent_p.A395A|CSF1_ENST00000369802.3_Silent_p.A511A|CSF1_ENST00000344188.5_Silent_p.A395A|CSF1_ENST00000420111.2_Silent_p.A213A	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	511					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTTGCTGGCCGTCGGAGGCC	0.637													C|||	14	0.00279553	0.0106	0.0	5008	,	,		16807	0.0		0.0	False		,,,				2504	0.0				p.A511A		Atlas-SNP	.											.	CSF1	40	.	0			c.C1533T						PASS	.	C	,,,	28,4376		0,28,2174	34	34	34		1533,1185,639,1533	-8.4	0.1	1	dbSNP_105	34	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	,,,	0,29,6473	TT,TC,CC		0.0116,0.6358,0.223	,,,	511/555,395/439,213/257,511/555	110466776	29,12975	2202	4300	6502	SO:0001819	synonymous_variant	1435	exon6			GCTGGCCGTCGGA	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1533C>T	1.37:g.110466776C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	96	51	0.53125	NM_000757	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	CCDS816.1																																																																																			C|0.996;T|0.004	0.004	strong		0.637	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		T	110466776	C	T	110466776	2	4	22	1	0	0	0	0	0	0	0	1	3931	639	23	1		1	CSF1	1	110466776	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	165516	110466776	138783845	496	5604										
SLC6A17	388662	hgsc.bcm.edu	37	chr1	110740931	110740931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagcaaggtgcccagtgaGgcaccttcccccatgcccac	9	18	1	1	rs6685009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110740931G>A	ENST00000331565.4	+	12	2534	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	683					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGCCCAGTGAGGCACCTTCCC	0.612													G|||	778	0.155351	0.5091	0.0375	5008	,	,		21398	0.0357		0.0278	False		,,,				2504	0.0153				p.E683E		Atlas-SNP	.											.	SLC6A17	86	.	0			c.G2049A						PASS	.	G		1893,2513	544.2+/-376.5	399,1095,709	121	98	106		2049	4.4	1	1	dbSNP_116	106	76,8524	44.9+/-103.4	1,74,4225	no	coding-synonymous	SLC6A17	NM_001010898.2		400,1169,4934	AA,AG,GG		0.8837,42.9641,15.1392		683/728	110740931	1969,11037	2203	4300	6503	SO:0001819	synonymous_variant	388662	exon12			CAGTGAGGCACCT		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2049G>A	1.37:g.110740931G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	118	118	1	NM_001010898	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	CCDS30799.1																																																																																			G|0.845;A|0.155	0.155	strong		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110740931	G	A	110740931	2	1	22	1	0	0	0	0	0	0	0	1	14680	991	35	2		2	SLC6A17	1	110740931	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	274155	110740931	138509690	497	5605										
RBM15	64783	hgsc.bcm.edu	37	chr1	110884493	110884493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcttgtggagggttcaacTggaggcaaagtggcccagct	14	9	2	0	rs61745292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:110884493T>C	ENST00000369784.3	+	1	3366	c.2466T>C	c.(2464-2466)acT>acC	p.T822T	RBM15_ENST00000602849.1_Silent_p.T822T|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.T822T	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	822	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGGTTCAACTGGAGGCAAAG	0.517			T	MKL1	acute megakaryocytic leukemia								T|||	146	0.0291534	0.1051	0.0086	5008	,	,		19970	0.0		0.001	False		,,,				2504	0.0				p.T822T		Atlas-SNP	.		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	RBM15	93	.	0			c.T2466C						PASS	.	T	,	324,4082	171.2+/-201.5	12,300,1891	79	77	78		2466,2466	-0.2	1	1	dbSNP_129	78	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous,coding-synonymous	RBM15	NM_001201545.1,NM_022768.4	,	12,309,6182	CC,CT,TT		0.1047,7.3536,2.5604	,	822/970,822/978	110884493	333,12673	2203	4300	6503	SO:0001819	synonymous_variant	64783	exon1			TTCAACTGGAGGC	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2466T>C	1.37:g.110884493T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	140	60	0.428571	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																			T|0.974;C|0.026	0.026	strong		0.517	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		C	110884493	T	C	110884493	2	2	22	1	0	0	0	0	0	0	0	1	13116	1567	55	3		3	RBM15	1	110884493	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	143562	110884493	138366128	498	5606										
DENND2D	79961	hgsc.bcm.edu	37	chr1	111738589	111738589	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtgacagtcttcccaggAgcagggaaggctgcctctcg	14	11	2	2	rs34558744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111738589A>T	ENST00000357640.4	-	6	823	c.594T>A	c.(592-594)gcT>gcA	p.A198A	DENND2D_ENST00000369752.5_Silent_p.A195A|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	198	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCTTCCCAGGAGCAGGGAAGG	0.557													A|||	56	0.0111821	0.0401	0.0043	5008	,	,		18465	0.0		0.0	False		,,,				2504	0.0				p.A198A		Atlas-SNP	.											.	DENND2D	50	.	0			c.T594A						PASS	.	A		190,4216	121.7+/-159.2	6,178,2019	106	100	102		594	-0.2	1	1	dbSNP_126	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DENND2D	NM_024901.3		6,179,6318	TT,TA,AA		0.0116,4.3123,1.4686		198/472	111738589	191,12815	2203	4300	6503	SO:0001819	synonymous_variant	79961	exon6			CCCAGGAGCAGGG		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.594T>A	1.37:g.111738589A>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_024901	Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	CCDS831.1																																																																																			A|0.988;T|0.012	0.012	strong		0.557	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		T	111738589	A	T	111738589	2	4	22	1	0	0	0	0	0	0	0	1	4431	291	11	5		5	DENND2D	1	111738589	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	854096	111738589	137512032	499	5607										
CHIA	27159	hgsc.bcm.edu	37	chr1	111854859	111854859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccaactgggcccagtacCggccaggcctggggcgcttc	13	16	1	0	rs61752461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111854859C>T	ENST00000369740.1	+	4	206	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R35W|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	35					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGCCCAGTACCGGCCAGGCCT	0.582													C|||	58	0.0115815	0.0393	0.0086	5008	,	,		18399	0.0		0.0	False		,,,				2504	0.0				p.R35W		Atlas-SNP	.											CHIA_ENST00000369740,NS,carcinoma,-2,1	CHIA	115	1	0			c.C103T						PASS	.	C	,TRP/ARG	170,4018		2,166,1926	70	74	73		,103	-0.2	0.2	1	dbSNP_129	73	0,8432		0,0,4216	yes	intron,missense	CHIA	NM_021797.2,NM_201653.2	,101	2,166,6142	TT,TC,CC		0.0,4.0592,1.3471	,probably-damaging	,35/477	111854859	170,12450	2094	4216	6310	SO:0001583	missense	27159	exon4			CAGTACCGGCCAG	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.103C>T	1.37:g.111854859C>T	ENSP00000358755:p.Arg35Trp	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	197	92	0.467005	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	26	0.011904761904761904	23	0.046747967479674794	3	0.008287292817679558	0	0.0	0	0.0	C	17.72	3.459828	0.63401	0.040592	0.0	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.06933	3.24;3.24	5.08	-0.166	0.13351	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.47852	U	0.000201	T	0.17874	0.0429	H	0.95294	3.65	0.80722	D	1	P	0.47484	0.896	P	0.51453	0.67	T	0.41998	-0.9477	10	0.66056	D	0.02	-8.6166	13.0776	0.59095	0.7282:0.2718:0.0:0.0	rs61752461	35	Q9BZP6	CHIA_HUMAN	W	35	ENSP00000358755:R35W;ENSP00000341828:R35W	ENSP00000341828:R35W	R	+	1	2	CHIA	111656382	0.000000	0.05858	0.241000	0.24154	0.789000	0.44602	-0.273000	0.08548	0.179000	0.19938	0.655000	0.94253	CGG	C|0.988;T|0.012	0.012	strong		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			T	111854859	C	T	111854859	3	4	22	1	0	0	0	0	1	0	0	0	3342	643	23	1	113	1	CHIA	1	111854859	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	116270	111854859	137395762	500	5608										
CHIA	27159	hgsc.bcm.edu	37	chr1	111862074	111862074	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccctgaagaaggccctCggcctgcagagtgcaagtaa	11	13	0	3	rs2820092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111862074C>T	ENST00000369740.1	+	11	1264	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	CHIA_ENST00000430615.1_Silent_p.L279L|CHIA_ENST00000353665.6_Silent_p.L226L|CHIA_ENST00000483391.1_Silent_p.L226L|CHIA_ENST00000451398.2_Silent_p.L226L|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.L387L	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	387					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGAAGGCCCTCGGCCTGCAGA	0.542													C|||	876	0.17492	0.354	0.1037	5008	,	,		19741	0.0923		0.0994	False		,,,				2504	0.1462				p.L387L		Atlas-SNP	.											.	CHIA	115	.	0			c.C1161T						PASS	.	C	,	1351,3055	451.2+/-349.6	207,937,1059	68	63	65		837,1161	-8.3	0	1	dbSNP_100	65	934,7666	206.1+/-248.3	49,836,3415	no	coding-synonymous,coding-synonymous	CHIA	NM_021797.2,NM_201653.2	,	256,1773,4474	TT,TC,CC		10.8605,30.6627,17.5688	,	279/369,387/477	111862074	2285,10721	2203	4300	6503	SO:0001819	synonymous_variant	27159	exon11			GGCCCTCGGCCTG	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1161C>T	1.37:g.111862074C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	CCDS41368.1																																																																																			C|0.834;T|0.166	0.166	strong		0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			T	111862074	C	T	111862074	2	4	22	1	0	0	0	0	0	0	0	1	3342	871	31	1		1	CHIA	1	111862074	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7215	111862074	137388547	501	5609										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957097	111957097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggggcttaggcttcttCatccacagcagagttttctg	11	10	3	2	rs7825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111957097C>G	ENST00000369732.3	-	11	2081	c.2026G>C	c.(2026-2028)Gaa>Caa	p.E676Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	676			E -> Q (in dbSNP:rs7825). {ECO:0000269|Ref.2}.		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TAGGCTTCTTCATCCACAGCA	0.463													G|||	3117	0.622404	0.7315	0.353	5008	,	,		17926	0.7589		0.4364	False		,,,				2504	0.7168				p.E676Q		Atlas-SNP	.											.	OVGP1	177	.	0			c.G2026C						PASS	.	G	GLN/GLU	3025,1379	445.5+/-347.7	1031,963,208	66	72	70		2026	0.2	0	1	dbSNP_52	70	3798,4802	607.5+/-395.3	841,2116,1343	yes	missense	OVGP1	NM_002557.3	29	1872,3079,1551	GG,GC,CC		44.1628,31.3124,47.5315	benign	676/679	111957097	6823,6181	2202	4300	6502	SO:0001583	missense	5016	exon11			CTTCTTCATCCAC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.2026G>C	1.37:g.111957097C>G	ENSP00000358747:p.Glu676Gln	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	1243	0.5691391941391941	348	0.7073170731707317	137	0.3784530386740331	433	0.756993006993007	325	0.4287598944591029	G	0.012	-1.686550	0.00738	0.686876	0.441628	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05319	3.46	4.26	0.154	0.14901	.	31.936600	0.00166	N	0.000001	T	0.00524	0.0017	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	9	0.02654	T	1	16.4499	2.7748	0.05344	0.0874:0.2937:0.3172:0.3017	rs7825;rs3181832;rs3754039;rs11564874;rs17528028;rs52804140;rs7825	676;740	Q12889;Q59HH5	OVGP1_HUMAN;.	Q	676;740;484	ENSP00000358747:E676Q	ENSP00000358743:E740Q	E	-	1	0	OVGP1	111758620	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.052000	0.14163	-0.136000	0.11475	-1.890000	0.00535	GAA	C|0.415;G|0.585	0.585	strong		0.463	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		G	111957097	C	G	111957097	3	3	22	1	0	0	0	0	1	0	0	0	11325	835	29	4	14	4	OVGP1	1	111957097	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95023	111957097	137293524	502	5610										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957311	111957311	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaagttacccatcctgggGtgagtgcccacctcagaagt	10	14	1	2	rs10067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111957311G>C	ENST00000369732.3	-	11	1867	c.1812C>G	c.(1810-1812)caC>caG	p.H604Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	604			H -> Q (in dbSNP:rs10067).		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.H604Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCATCCTGGGGTGAGTGCCCA	0.522													G|||	1477	0.294928	0.4539	0.1628	5008	,	,		18670	0.3919		0.1103	False		,,,				2504	0.2638				p.H604Q		Atlas-SNP	.											OVGP1_ENST00000369728,NS,carcinoma,-1,3	OVGP1	177	3	1	Substitution - Missense(1)	stomach(1)	c.C1812G	GRCh37	CM066158	OVGP1	M	rs10067	PASS	.	G	GLN/HIS	1700,2706	512.9+/-368.2	328,1044,831	79	78	78		1812	0.2	0	1	dbSNP_52	78	709,7891	174.6+/-224.8	31,647,3622	yes	missense	OVGP1	NM_002557.3	24	359,1691,4453	CC,CG,GG		8.2442,38.5837,18.5222	benign	604/679	111957311	2409,10597	2203	4300	6503	SO:0001583	missense	5016	exon11			CCTGGGGTGAGTG	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1812C>G	1.37:g.111957311G>C	ENSP00000358747:p.His604Gln	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	181	78	0.430939	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	568	0.2600732600732601	186	0.3780487804878049	59	0.16298342541436464	240	0.4195804195804196	83	0.10949868073878628	G	6.288	0.421200	0.11928	0.385837	0.082442	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04119	3.7	3.3	0.215	0.15253	.	32.642700	0.00166	N	0.000000	T	0.01061	0.0035	N	0.14661	0.345	0.80722	P	0.0	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.46582	-0.9181	9	0.66056	D	0.02	2.2789	4.0053	0.09598	0.1197:0.0:0.4665:0.4138	rs10067;rs3767611;rs17027624;rs52822661;rs10067	604;668	Q12889;Q59HH5	OVGP1_HUMAN;.	Q	604;668;412	ENSP00000358747:H604Q	ENSP00000358743:H668Q	H	-	3	2	OVGP1	111758834	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.609000	0.05635	0.059000	0.16252	0.585000	0.79938	CAC	G|0.785;C|0.214	0.214	strong		0.522	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111957311	G	C	111957311	3	2	22	1	0	0	0	0	1	0	0	0	11325	1252	44	4	228	4	OVGP1	1	111957311	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	214	111957311	137293310	503	5611										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957693	111957693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccacagaagtcatggtcAttgccccagtgatctcagtc	9	13	3	2	rs2485319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111957693A>G	ENST00000369732.3	-	11	1485	c.1430T>C	c.(1429-1431)aTg>aCg	p.M477T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	477			M -> T (in dbSNP:rs2485319). {ECO:0000269|Ref.2}.		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGTCATGGTCATTGCCCCAGT	0.522													g|||	3164	0.631789	0.7572	0.3573	5008	,	,		19965	0.7718		0.4364	False		,,,				2504	0.7137				p.M477T		Atlas-SNP	.											.	OVGP1	177	.	0			c.T1430C						PASS	.	G	THR/MET	3118,1288	438.2+/-345.2	1098,922,183	124	104	111		1430	-1.1	0	1	dbSNP_100	111	3799,4801	613.6+/-396.1	838,2123,1339	yes	missense	OVGP1	NM_002557.3	81	1936,3045,1522	GG,GA,AA		44.1744,29.2329,46.8169	benign	477/679	111957693	6917,6089	2203	4300	6503	SO:0001583	missense	5016	exon11			ATGGTCATTGCCC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1430T>C	1.37:g.111957693A>G	ENSP00000358747:p.Met477Thr	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	288	134	0.465278	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	1264	0.5787545787545788	361	0.733739837398374	138	0.3812154696132597	440	0.7692307692307693	325	0.4287598944591029	g	0.042	-1.281576	0.01398	0.707671	0.441744	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03982	3.74	3.58	-1.06	0.10002	.	3.712600	0.01003	N	0.003714	T	0.00552	0.0018	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43491	-0.9388	9	0.09590	T	0.72	0.0079	4.4317	0.11531	0.2936:0.0:0.3433:0.3631	rs2485319;rs3767606;rs17528138;rs61105440;rs2485319	477;541	Q12889;Q59HH5	OVGP1_HUMAN;.	T	477;541;285	ENSP00000358747:M477T	ENSP00000358743:M541T	M	-	2	0	OVGP1	111759216	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.339000	0.07832	-0.608000	0.05731	-1.636000	0.00776	ATG	A|0.440;G|0.560	0.560	strong		0.522	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		G	111957693	A	G	111957693	3	3	22	1	0	0	0	0	1	0	0	0	11325	217	8	2	610	2	OVGP1	1	111957693	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	382	111957693	137292928	504	5612										
OVGP1	5016	hgsc.bcm.edu	37	chr1	111957721	111957721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgatctcagtcttctctcCtagagctacagtgtgctttc	8	11	3	2	rs115512535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:111957721C>T	ENST00000369732.3	-	11	1457	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	468					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTCTTCTCTCCTAGAGCTACA	0.498													C|||	11	0.00219649	0.0083	0.0	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0				p.G468R		Atlas-SNP	.											.	OVGP1	177	.	0			c.G1402A						PASS	.	C	ARG/GLY	57,4349	55.5+/-91.7	0,57,2146	121	104	110		1402	-0.9	0	1	dbSNP_132	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OVGP1	NM_002557.3	125	0,58,6445	TT,TC,CC		0.0116,1.2937,0.4459	possibly-damaging	468/679	111957721	58,12948	2203	4300	6503	SO:0001583	missense	5016	exon11			TCTCTCCTAGAGC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1402G>A	1.37:g.111957721C>T	ENSP00000358747:p.Gly468Arg	Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	300	134	0.446667	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	17.36	3.368778	0.61624	0.012937	1.16E-4	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04317	3.65	4.86	-0.95	0.10372	.	0.931884	0.09108	N	0.847418	T	0.01489	0.0048	L	0.39898	1.24	0.09310	N	1	P;P	0.48764	0.675;0.915	B;B	0.41946	0.131;0.371	T	0.45977	-0.9224	10	0.40728	T	0.16	-0.097	5.5535	0.17103	0.0:0.5337:0.1411:0.3252	.	468;532	Q12889;Q59HH5	OVGP1_HUMAN;.	R	468;532;276	ENSP00000358747:G468R	ENSP00000358743:G532R	G	-	1	0	OVGP1	111759244	0.000000	0.05858	0.000000	0.03702	0.895000	0.52256	0.199000	0.17237	-0.209000	0.10156	0.585000	0.79938	GGA	C|0.997;T|0.003	0.003	strong		0.498	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957721	C	T	111957721	3	4	22	1	0	0	0	0	1	0	0	0	11325	690	24	2	638	2	OVGP1	1	111957721	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28	111957721	137292900	505	5613										
ADORA3	140	hgsc.bcm.edu	37	chr1	112045709	112045709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtgggtaaagataagcaGtaggcaagtcataaaaaggc	14	5	1	1	rs77883500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112045709G>C	ENST00000241356.4	-	1	673	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.L90V	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	90					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AAGATAAGCAGTAGGCAAGTC	0.552													G|||	86	0.0171725	0.0613	0.0058	5008	,	,		21547	0.0		0.001	False		,,,				2504	0.0				p.L90V		Atlas-SNP	.											.	ADORA3	104	.	0			c.C268G						PASS	.	G	VAL/LEU,,VAL/LEU	184,4222	117.5+/-155.4	2,180,2021	84	64	70		268,,268	1.1	0.7	1	dbSNP_131	70	1,8599		0,1,4299	yes	missense,intron,missense	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	32,,32	2,181,6320	CC,CG,GG		0.0116,4.1761,1.4224	benign,,benign	90/319,,90/348	112045709	185,12821	2203	4300	6503	SO:0001583	missense	140	exon1			TAAGCAGTAGGCA	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.268C>G	1.37:g.112045709G>C	ENSP00000241356:p.Leu90Val	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	291	135	0.463918	NM_020683	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	CCDS839.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	G	4.114	0.019297	0.08006	0.041761	1.16E-4	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37235	1.21;1.21	5.26	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.645763	0.12883	N	0.431230	T	0.05777	0.0151	N	0.05510	-0.035	0.22292	N	0.999222	B;B	0.21381	0.055;0.004	B;B	0.24394	0.053;0.012	T	0.45101	-0.9284	10	0.10377	T	0.69	-1.0214	11.5274	0.50588	0.0:0.1113:0.3199:0.5688	.	90;90	P33765;P33765-2	AA3R_HUMAN;.	V	90	ENSP00000358730:L90V;ENSP00000241356:L90V	ENSP00000241356:L90V	L	-	1	2	ADORA3	111847232	0.001000	0.12720	0.667000	0.29798	0.701000	0.40568	-0.483000	0.06536	0.013000	0.14918	0.561000	0.74099	CTG	G|0.985;C|0.015	0.015	strong		0.552	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		C	112045709	G	C	112045709	3	2	22	1	0	0	0	0	1	0	0	0	329	1020	36	4	1410	4	ADORA3	1	112045709	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87988	112045709	137204912	506	5614										
DDX20	11218	hgsc.bcm.edu	37	chr1	112298582	112298582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcctcgggagccttagcAgcagtggcgactgctatgcc	14	12	0	0	rs197392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112298582A>G	ENST00000369702.4	+	1	656	c.36A>G	c.(34-36)gcA>gcG	p.A12A	FAM212B_ENST00000412270.1_5'Flank|FAM212B_ENST00000444059.2_5'Flank|DDX20_ENST00000536167.1_Silent_p.A12A	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	12					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCCTTAGCAGCAGTGGCGA	0.662													g|||	1214	0.242412	0.5666	0.147	5008	,	,		11743	0.0367		0.1978	False		,,,				2504	0.1299				p.A12A		Atlas-SNP	.											DDX20,NS,carcinoma,0,1	DDX20	50	1	0			c.A36G						PASS	.			1915,2403		428,1059,672	12	13	13		36	-5.7	0	1	dbSNP_79	13	1610,6958		184,1242,2858	no	coding-synonymous	DDX20	NM_007204.4		612,2301,3530	GG,GA,AA		18.7908,44.3492,27.3553		12/825	112298582	3525,9361	2159	4284	6443	SO:0001819	synonymous_variant	11218	exon1			CTTAGCAGCAGTG	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.36A>G	1.37:g.112298582A>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	182	180	0.989011	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																			A|0.755;G|0.245	0.245	strong		0.662	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		G	112298582	A	G	112298582	2	3	22	1	0	0	0	0	0	0	0	1	4348	175	7	3		3	DDX20	1	112298582	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	252873	112298582	136952039	507	5615										
DDX20	11218	hgsc.bcm.edu	37	chr1	112308953	112308953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgtgagaaataaagttaTtgaacagagagtccctgtgt	10	4	0	3	rs197412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112308953T>C	ENST00000369702.4	+	11	2527	c.1907T>C	c.(1906-1908)aTt>aCt	p.I636T	DDX20_ENST00000475700.1_Missense_Mutation_p.I244T	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	636			I -> T (in dbSNP:rs197412). {ECO:0000269|PubMed:15489334}.		ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATAAAGTTATTGAACAGAGA	0.453													C|||	2376	0.474441	0.7247	0.5072	5008	,	,		19469	0.3403		0.4185	False		,,,				2504	0.3088				p.I636T		Atlas-SNP	.											DDX20,NS,carcinoma,+1,1	DDX20	50	1	0			c.T1907C						PASS	.	C	THR/ILE	2950,1456	465.7+/-354.3	991,968,244	49	49	49		1907	3.9	0.3	1	dbSNP_79	49	3345,5255	640.4+/-399.6	669,2007,1624	yes	missense	DDX20	NM_007204.4	89	1660,2975,1868	CC,CT,TT		38.8953,33.0458,48.4007	benign	636/825	112308953	6295,6711	2203	4300	6503	SO:0001583	missense	11218	exon11			AAGTTATTGAACA	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1907T>C	1.37:g.112308953T>C	ENSP00000358716:p.Ile636Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	1038	0.47527472527472525	360	0.7317073170731707	162	0.44751381215469616	198	0.34615384615384615	318	0.41952506596306066	C	0.006	-2.070387	0.00379	0.669542	0.388953	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.32023	1.47;1.98	5.72	3.86	0.44501	.	2.200060	0.01328	N	0.011173	T	0.02929	0.0087	N	0.00926	-1.1	0.44899	P	0.0020820000000000283	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33828	-0.9853	8	.	.	.	0.4742	5.1813	0.15161	0.1427:0.6287:0.0:0.2286	rs197412;rs482352;rs17569500;rs17845940;rs17856358;rs17857030;rs17858920;rs52814398;rs60229681;rs197412	244;636	E9PJ60;Q9UHI6	.;DDX20_HUMAN	T	636;244	ENSP00000358716:I636T;ENSP00000435660:I244T	.	I	+	2	0	DDX20	112110476	0.906000	0.30813	0.331000	0.25455	0.101000	0.19017	2.183000	0.42565	0.463000	0.27118	-0.766000	0.03442	ATT	C|0.483;N|0.000	0.483	strong		0.453	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		C	112308953	T	C	112308953	3	2	22	1	0	0	0	0	1	0	0	0	4348	1493	52	2	1949	2	DDX20	1	112308953	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10371	112308953	136941668	508	5616										
DDX20	11218	hgsc.bcm.edu	37	chr1	112308972	112308972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaacagagagtccctgtGttggcaagtagtagccaatc	11	8	0	2	rs197413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112308972G>A	ENST00000369702.4	+	11	2546	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	DDX20_ENST00000475700.1_Silent_p.V250V	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	642					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCCCTGTGTTGGCAAGTA	0.443													A|||	2403	0.479832	0.7428	0.5115	5008	,	,		19455	0.3403		0.4185	False		,,,				2504	0.3088				p.V642V		Atlas-SNP	.											.	DDX20	50	.	0			c.G1926A						PASS	.	A		2992,1414	455.7+/-351.1	1018,956,229	47	48	48		1926	-2.6	0	1	dbSNP_79	48	3349,5251	639.0+/-399.4	671,2007,1622	no	coding-synonymous	DDX20	NM_007204.4		1689,2963,1851	AA,AG,GG		38.9419,32.0926,48.7544		642/825	112308972	6341,6665	2203	4300	6503	SO:0001819	synonymous_variant	11218	exon11			CCCTGTGTTGGCA	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1926G>A	1.37:g.112308972G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																			G|0.512;A|0.488	0.488	strong		0.443	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		A	112308972	G	A	112308972	2	1	22	1	0	0	0	0	0	0	0	1	4348	1364	48	2		2	DDX20	1	112308972	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19	112308972	136941649	509	5617										
DDX20	11218	hgsc.bcm.edu	37	chr1	112309123	112309123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctacgcctgtggatgatCgtatttctttggaacaacca	8	9	2	1	rs197414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112309123C>A	ENST00000369702.4	+	11	2697	c.2077C>A	c.(2077-2079)Cgt>Agt	p.R693S	DDX20_ENST00000475700.1_Missense_Mutation_p.R301S	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	693			R -> S (in dbSNP:rs197414).		ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGATGATCGTATTTCTTT	0.433													C|||	831	0.165935	0.4274	0.0965	5008	,	,		20348	0.003		0.1252	False		,,,				2504	0.0716				p.R693S		Atlas-SNP	.											.	DDX20	50	.	0			c.C2077A	GRCh37	CM086198	DDX20	M	rs197414	PASS	.	C	SER/ARG	1627,2779	487.6+/-361.0	296,1035,872	79	82	81		2077	4.1	0.5	1	dbSNP_79	81	1099,7499	228.6+/-263.6	69,961,3269	yes	missense	DDX20	NM_007204.4	110	365,1996,4141	AA,AC,CC		12.782,36.9269,20.9628	benign	693/825	112309123	2726,10278	2203	4299	6502	SO:0001583	missense	11218	exon11			GATGATCGTATTT	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2077C>A	1.37:g.112309123C>A	ENSP00000358716:p.Arg693Ser	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	338	0.15476190476190477	213	0.4329268292682927	30	0.08287292817679558	0	0.0	95	0.12532981530343007	C	4.758	0.140947	0.09083	0.369269	0.12782	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.31247	1.5;2.06	5.0	4.09	0.47781	.	2.687950	0.00649	N	0.000558	T	0.09247	0.0228	N	0.22421	0.69	0.09310	P	0.9999999999930954	B;B	0.12630	0.006;0.002	B;B	0.12837	0.008;0.005	T	0.11891	-1.0569	8	.	.	.	-0.8902	8.3507	0.32301	0.1541:0.7669:0.0:0.079	rs197414;rs665164;rs742792;rs52835282;rs57983595;rs197414	301;693	E9PJ60;Q9UHI6	.;DDX20_HUMAN	S	693;301	ENSP00000358716:R693S;ENSP00000435660:R301S	.	R	+	1	0	DDX20	112110646	0.005000	0.15991	0.498000	0.27564	0.024000	0.10985	1.194000	0.32174	1.476000	0.48215	0.655000	0.94253	CGT	C|0.846;A|0.154	0.154	strong		0.433	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		A	112309123	C	A	112309123	3	1	22	1	0	0	0	0	1	0	0	0	4348	884	31	4	2119	4	DDX20	1	112309123	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	151	112309123	136941498	510	5618										
DDX20	11218	hgsc.bcm.edu	37	chr1	112309331	112309331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatgactgtcatagggaaaTacgtctgagtttttctgata	10	5	3	3	rs85276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:112309331T>C	ENST00000369702.4	+	11	2905	c.2285T>C	c.(2284-2286)aTa>aCa	p.I762T	DDX20_ENST00000475700.1_Missense_Mutation_p.I370T	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	762			I -> T (in dbSNP:rs85276).		ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAGGGAAATACGTCTGAGT	0.463													C|||	831	0.165935	0.4274	0.0965	5008	,	,		20780	0.003		0.1252	False		,,,				2504	0.0716				p.I762T		Atlas-SNP	.											.	DDX20	50	.	0			c.T2285C						PASS	.	C	THR/ILE	1628,2778	660.4+/-400.7	296,1036,871	104	103	103		2285	4.8	0	1	dbSNP_79	103	1099,7501	768.2+/-407.6	69,961,3270	yes	missense	DDX20	NM_007204.4	89	365,1997,4141	CC,CT,TT		12.7791,36.9496,20.9672	benign	762/825	112309331	2727,10279	2203	4300	6503	SO:0001583	missense	11218	exon11			GGGAAATACGTCT	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2285T>C	1.37:g.112309331T>C	ENSP00000358716:p.Ile762Thr	Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	152	151	0.993421	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	338	0.15476190476190477	213	0.4329268292682927	30	0.08287292817679558	0	0.0	95	0.12532981530343007	C	0.007	-1.996505	0.00435	0.369496	0.127791	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.30714	1.52;2.08	5.82	4.85	0.62838	.	1.043140	0.07424	N	0.894524	T	0.02304	0.0071	N	0.00237	-1.79	0.51482	P	7.100000000004325E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41052	-0.9530	8	.	.	.	-0.4366	8.6229	0.33872	0.1785:0.7366:0.0:0.0849	rs85276;rs697388;rs742793;rs52833651;rs58747656;rs85276	370;762	E9PJ60;Q9UHI6	.;DDX20_HUMAN	T	762;370	ENSP00000358716:I762T;ENSP00000435660:I370T	.	I	+	2	0	DDX20	112110854	0.002000	0.14202	0.002000	0.10522	0.074000	0.17049	0.737000	0.26144	1.489000	0.48450	-0.119000	0.15052	ATA	A|0.004;C|0.196	0.196	strong		0.463	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		C	112309331	T	C	112309331	3	2	22	1	0	0	0	0	1	0	0	0	4348	1406	49	2	2327	2	DDX20	1	112309331	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	208	112309331	136941290	511	5619										
WNT2B	7482	hgsc.bcm.edu	37	chr1	113063125	113063125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcagagtggctggaccaAacctgaacacacagatacct	10	11	0	3	rs910697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:113063125A>G	ENST00000369684.4	+	5	1655	c.1170A>G	c.(1168-1170)caA>caG	p.Q390Q	WNT2B_ENST00000256640.5_Silent_p.Q298Q|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.Q371Q	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	390					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGGACCAAACCTGAACAC	0.517													G|||	2421	0.483427	0.5371	0.4438	5008	,	,		19029	0.6151		0.4612	False		,,,				2504	0.3262				p.Q390Q		Atlas-SNP	.											.	WNT2B	51	.	0			c.A1170G						PASS	.	G	,	2267,2139	577.5+/-384.5	593,1081,529	119	103	108		1113,1170	5.3	1	1	dbSNP_86	108	3921,4679	602.9+/-394.6	902,2117,1281	no	coding-synonymous,coding-synonymous	WNT2B	NM_004185.3,NM_024494.2	,	1495,3198,1810	GG,GA,AA		45.593,48.5474,47.578	,	371/373,390/392	113063125	6188,6818	2203	4300	6503	SO:0001819	synonymous_variant	7482	exon5			GGACCAAACCTGA	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.1170A>G	1.37:g.113063125A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_024494	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	ENST00000369684.4	37	CCDS847.1																																																																																			A|0.500;C|0.000;G|0.499;T|0.001	0.499	strong		0.517	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		G	113063125	A	G	113063125	2	3	22	1	0	0	0	0	0	0	0	1	17384	11	1	2		2	WNT2B	1	113063125	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	753794	113063125	136187496	512	5620										
ST7L	54879	hgsc.bcm.edu	37	chr1	113068651	113068651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctcagccagaactcaaaCctaggtcttctgacttcaaa	7	12	5	2	rs12069022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:113068651C>T	ENST00000358039.4	-	15	2016	c.1712G>A	c.(1711-1713)gGt>gAt	p.G571D	WNT2B_ENST00000369686.5_3'UTR|ST7L_ENST00000544629.1_Missense_Mutation_p.G506D|ST7L_ENST00000360743.4_Missense_Mutation_p.G540D|ST7L_ENST00000490067.1_Missense_Mutation_p.G554D|ST7L_ENST00000369669.1_Missense_Mutation_p.G388D	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	571			G -> D (in dbSNP:rs12069022).		negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		agaactcaaacctaggtcttc	0.478													C|||	174	0.0347444	0.1263	0.0101	5008	,	,		18280	0.0		0.0	False		,,,				2504	0.0				p.G571D		Atlas-SNP	.											.	ST7L	31	.	0			c.G1712A						PASS	.	C	ASP/GLY,ASP/GLY,ASP/GLY	441,3965	212.5+/-232.4	23,395,1785	114	113	113		1712,1661,1619	1.9	0.1	1	dbSNP_120	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	ST7L	NM_017744.4,NM_138727.3,NM_138728.2	94,94,94	23,398,6082	TT,TC,CC		0.0349,10.0091,3.4138	probably-damaging,probably-damaging,probably-damaging	571/576,554/559,540/545	113068651	444,12562	2203	4300	6503	SO:0001583	missense	54879	exon15			CTCAAACCTAGGT	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1712G>A	1.37:g.113068651C>T	ENSP00000350734:p.Gly571Asp	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_017744	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	44	0.020146520146520148	42	0.08536585365853659	2	0.0055248618784530384	0	0.0	0	0.0	C	15.95	2.984826	0.53934	0.100091	3.49E-4	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067	T;T;T;T;T	0.19394	2.43;2.24;2.15;2.39;2.43	3.81	1.87	0.25490	.	1.917730	0.02054	N	0.050248	T	0.04003	0.0112	N	0.08118	0	0.20563	N	0.999889	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.0	T	0.32052	-0.9921	10	0.87932	D	0	.	5.8421	0.18639	0.0:0.7468:0.0:0.2532	rs12069022;rs12069022	506;506;554;540;571	B7Z3J2;F5H2P3;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;ST7L_HUMAN	D	571;540;321;506;388;554	ENSP00000350734:G571D;ENSP00000353972:G540D;ENSP00000445499:G506D;ENSP00000358683:G388D;ENSP00000417140:G554D	ENSP00000350734:G571D	G	-	2	0	ST7L	112870174	0.000000	0.05858	0.071000	0.20095	0.353000	0.29299	0.130000	0.15850	0.558000	0.29135	-0.119000	0.15052	GGT	C|0.963;T|0.037	0.037	strong		0.478	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			T	113068651	C	T	113068651	3	4	22	1	0	0	0	0	1	0	0	0	15229	507	18	2	19	2	ST7L	1	113068651	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5526	113068651	136181970	513	5621										
ST7L	54879	hgsc.bcm.edu	37	chr1	113153536	113153536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttctgaaatgctgctctcTgttcctcccatcagtggttg	10	11	3	1	rs35364712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:113153536T>C	ENST00000358039.4	-	3	682	c.378A>G	c.(376-378)acA>acG	p.T126T	ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000369666.1_Silent_p.T109T|ST7L_ENST00000490067.1_Silent_p.T109T|ST7L_ENST00000538187.1_Silent_p.T70T|ST7L_ENST00000360743.4_Silent_p.T126T|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Silent_p.T126T|ST7L_ENST00000544629.1_Silent_p.T126T|ST7L_ENST00000543570.1_Silent_p.T109T|ST7L_ENST00000343210.7_Silent_p.T126T	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	126					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGCTCTCTGTTCCTCCCA	0.408													T|||	59	0.0117812	0.0431	0.0029	5008	,	,		21004	0.0		0.0	False		,,,				2504	0.0				p.T126T		Atlas-SNP	.											.	ST7L	31	.	0			c.A378G						PASS	.	T	,,,	197,4209	124.5+/-161.8	5,187,2011	156	150	152		378,327,378,378	4.9	1	1	dbSNP_126	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ST7L	NM_017744.4,NM_138727.3,NM_138728.2,NM_138729.3	,,,	5,188,6310	CC,CT,TT		0.0116,4.4712,1.5224	,,,	126/576,109/559,126/545,126/556	113153536	198,12808	2203	4300	6503	SO:0001819	synonymous_variant	54879	exon3			GCTCTCTGTTCCT	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.378A>G	1.37:g.113153536T>C		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	268	134	0.5	NM_138729	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Silent	SNP	ENST00000358039.4	37	CCDS848.1																																																																																			T|0.984;C|0.016	0.016	strong		0.408	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			C	113153536	T	C	113153536	2	2	22	1	0	0	0	0	0	0	0	1	15229	1567	55	3		3	ST7L	1	113153536	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	84885	113153536	136097085	514	5622										
CAPZA1	829	hgsc.bcm.edu	37	chr1	113202386	113202386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacagcccaggtggttggCgtgcttaagattcaggtgag	14	9	1	2	rs12074157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:113202386C>T	ENST00000263168.3	+	7	1242	c.570C>T	c.(568-570)ggC>ggT	p.G190G	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	190					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGTTGGCGTGCTTAAGA	0.403													c|||	179	0.0357428	0.1301	0.0101	5008	,	,		16515	0.0		0.0	False		,,,				2504	0.0				p.G190G		Atlas-SNP	.											CAPZA1,colon,carcinoma,0,1	CAPZA1	16	1	0			c.C570T						PASS	.	C		459,3947	217.1+/-235.6	24,411,1768	94	89	91		570	4.4	1	1	dbSNP_120	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CAPZA1	NM_006135.2		24,414,6065	TT,TC,CC		0.0349,10.4176,3.5522		190/287	113202386	462,12544	2203	4300	6503	SO:0001819	synonymous_variant	829	exon7			GGTTGGCGTGCTT	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.570C>T	1.37:g.113202386C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	86	35	0.406977	NM_006135	Q53FQ6|Q6FHD5	Silent	SNP	ENST00000263168.3	37	CCDS30805.1																																																																																			C|0.968;T|0.032	0.032	strong		0.403	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		T	113202386	C	T	113202386	2	4	22	1	0	0	0	0	0	0	0	1	2640	755	27	1		1	CAPZA1	1	113202386	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48850	113202386	136048235	515	5623										
MAGI3	260425	hgsc.bcm.edu	37	chr1	113933814	113933814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctccgcgaggagcccggCgggggcacctgctgcgtcgt	18	15	0	0	rs182574963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:113933814C>T	ENST00000307546.9	+	1	234	c.159C>T	c.(157-159)ggC>ggT	p.G53G	MAGI3_ENST00000369617.4_Silent_p.G53G|MAGI3_ENST00000369611.4_Silent_p.G53G|MAGI3_ENST00000369615.1_Silent_p.G53G|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	53	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAGCCCGGCGGGGGCACCT	0.746													C|||	31	0.0061901	0.0204	0.0058	5008	,	,		9388	0.0		0.0	False		,,,				2504	0.0				p.G53G		Atlas-SNP	.											.	MAGI3	181	.	0			c.C159T						PASS	.	C	,	45,4037		0,45,1996	5	7	6		159,159	2.9	1	1		6	2,8118		0,2,4058	no	coding-synonymous,coding-synonymous	MAGI3	NM_001142782.1,NM_152900.2	,	0,47,6054	TT,TC,CC		0.0246,1.1024,0.3852	,	53/1482,53/1126	113933814	47,12155	2041	4060	6101	SO:0001819	synonymous_variant	260425	exon1			GCCCGGCGGGGGC	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.159C>T	1.37:g.113933814C>T		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	35	26	0.742857	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																			C|0.994;T|0.006	0.006	strong		0.746	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		T	113933814	C	T	113933814	2	4	22	1	0	0	0	0	0	0	0	1	9192	755	27	1		1	MAGI3	1	113933814	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	731428	113933814	135316807	516	5624										
HIPK1	204851	hgsc.bcm.edu	37	chr1	114505000	114505000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatggataatgctgtaccGattgtaccccaggcaccagc	11	11	0	0	rs17852555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:114505000G>A	ENST00000369558.1	+	9	2275	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	HIPK1_ENST00000369554.2_Silent_p.P681P|HIPK1_ENST00000369553.1_Silent_p.P287P|HIPK1_ENST00000426820.2_Silent_p.P681P|HIPK1_ENST00000406344.1_Silent_p.P287P|HIPK1_ENST00000369561.4_Silent_p.P647P|HIPK1_ENST00000369555.2_Silent_p.P681P|HIPK1_ENST00000340480.4_Silent_p.P307P|HIPK1_ENST00000369559.4_Silent_p.P681P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	681					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGCTGTACCGATTGTACCCC	0.448													A|||	1189	0.23742	0.351	0.196	5008	,	,		18319	0.245		0.2286	False		,,,				2504	0.1145				p.P681P		Atlas-SNP	.											.	HIPK1	195	.	0			c.G2043A						PASS	.	A	,,,	1435,2971	683.7+/-404.3	233,969,1001	109	102	104		2043,861,2043,921	-0.7	1	1	dbSNP_123	104	2085,6515	718.0+/-406.2	251,1583,2466	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIPK1	NM_152696.3,NM_181358.2,NM_198268.2,NM_198269.2	,,,	484,2552,3467	AA,AG,GG		24.2442,32.5692,27.0644	,,,	681/1076,287/817,681/1211,307/837	114505000	3520,9486	2203	4300	6503	SO:0001819	synonymous_variant	204851	exon9			TGTACCGATTGTA	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2043G>A	1.37:g.114505000G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	143	67	0.468531	NM_198268	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1																																																																																			G|0.743;A|0.257	0.257	strong		0.448	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		A	114505000	G	A	114505000	2	1	22	1	0	0	0	0	0	0	0	1	7116	1045	37	1		1	HIPK1	1	114505000	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	571186	114505000	134745621	517	5625										
TRIM33	51592	hgsc.bcm.edu	37	chr1	114948309	114948309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggttttccaggcttgccaAtgcatccaattcactttcta	6	11	2	0	rs56056367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:114948309A>G	ENST00000358465.2	-	15	2574	c.2491T>C	c.(2491-2493)Ttg>Ctg	p.L831L	TRIM33_ENST00000369543.2_Silent_p.L831L|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Silent_p.L463L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	831					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGCCAATGCATCCAAT	0.433			T	RET	papillary thyroid								A|||	122	0.024361	0.0552	0.0043	5008	,	,		19263	0.0149		0.001	False		,,,				2504	0.0307				p.L831L		Atlas-SNP	.		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	.	TRIM33	115	.	0			c.T2491C						PASS	.	A	,	199,4207	124.1+/-161.4	4,191,2008	123	123	123		2491,2491	4.2	1	1	dbSNP_129	123	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	TRIM33	NM_015906.3,NM_033020.2	,	4,195,6304	GG,GA,AA		0.0465,4.5166,1.5608	,	831/1128,831/1111	114948309	203,12803	2203	4300	6503	SO:0001819	synonymous_variant	51592	exon15			TTGCCAATGCATC	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2491T>C	1.37:g.114948309A>G		Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	283	145	0.512367	NM_033020	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	CCDS872.1																																																																																			A|0.985;G|0.015	0.015	strong		0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		G	114948309	A	G	114948309	2	3	22	1	0	0	0	0	0	0	0	1	16504	98	4	2		2	TRIM33	1	114948309	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	443309	114948309	134302312	518	5626										
SYCP1	6847	hgsc.bcm.edu	37	chr1	115537343	115537343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtttcagaagaagagacaTtgaaaacactgtataggaac	10	5	1	4	rs17033011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:115537343T>C	ENST00000369522.3	+	31	2968	c.2728T>C	c.(2728-2730)Ttg>Ctg	p.L910L	SYCP1_ENST00000369518.1_Silent_p.L910L|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	910					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGAGACATTGAAAACACT	0.274													T|||	185	0.0369409	0.1354	0.0086	5008	,	,		12816	0.0		0.0	False		,,,				2504	0.0				p.L910L		Atlas-SNP	.											.	SYCP1	149	.	0			c.T2728C						PASS	.			470,3920	196.0+/-220.5	22,426,1747	32	35	34		2728	-1.8	0	1	dbSNP_123	34	6,8570	4.3+/-15.6	0,6,4282	no	coding-synonymous	SYCP1	NM_003176.2		22,432,6029	CC,CT,TT		0.07,10.7062,3.6711		910/977	115537343	476,12490	2195	4288	6483	SO:0001819	synonymous_variant	6847	exon31			GAGACATTGAAAA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2728T>C	1.37:g.115537343T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	108	53	0.490741	NM_003176	O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	CCDS879.1																																																																																			T|0.954;C|0.046	0.046	strong		0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		C	115537343	T	C	115537343	2	2	22	1	0	0	0	0	0	0	0	1	15428	1490	52	2		2	SYCP1	1	115537343	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	589034	115537343	133713278	519	5627										
TSPAN2	10100	hgsc.bcm.edu	37	chr1	115601528	115601528	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtggaaggtgatgagtgtCccattgccttttcccctgtc	12	10	0	2	rs3738702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:115601528C>G	ENST00000369516.2	-	5	451	c.420G>C	c.(418-420)ggG>ggC	p.G140G	TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369515.2_Silent_p.G115G|TSPAN2_ENST00000369514.2_Silent_p.G140G	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	140					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGATGAGTGTCCCATTGCCTT	0.413													C|||	474	0.0946486	0.1974	0.0865	5008	,	,		20595	0.0169		0.0746	False		,,,				2504	0.0624				p.G140G		Atlas-SNP	.											TSPAN2,NS,malignant_melanoma,-1,1	TSPAN2	37	1	0			c.G420C						PASS	.	C		746,3660	305.2+/-288.9	71,604,1528	273	248	257		420	-2.5	0.9	1	dbSNP_107	257	624,7976	162.0+/-214.8	15,594,3691	no	coding-synonymous	TSPAN2	NM_005725.4		86,1198,5219	GG,GC,CC		7.2558,16.9315,10.5336		140/222	115601528	1370,11636	2203	4300	6503	SO:0001819	synonymous_variant	10100	exon5			GAGTGTCCCATTG	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.420G>C	1.37:g.115601528C>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	141	68	0.482269	NM_005725	D6PTH4|Q5TET2|Q8WU05	Silent	SNP	ENST00000369516.2	37	CCDS881.1																																																																																			C|0.901;G|0.099	0.099	strong		0.413	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		G	115601528	C	G	115601528	2	3	22	1	0	0	0	0	0	0	0	1	16641	842	30	4		4	TSPAN2	1	115601528	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64185	115601528	133649093	520	5628										
TSPAN2	10100	hgsc.bcm.edu	37	chr1	115604798	115604798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccgcatggctccgcagcaCccgaagaaccccacggccat	9	19	0	1	rs10776795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:115604798C>T	ENST00000369516.2	-	3	259	c.228G>A	c.(226-228)ggG>ggA	p.G76G	TSPAN2_ENST00000369515.2_Silent_p.G76G|TSPAN2_ENST00000369514.2_Silent_p.G76G	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	76					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTCCGCAGCACCCGAAGAACC	0.627													C|||	1603	0.320088	0.3018	0.3343	5008	,	,		12891	0.4921		0.3012	False		,,,				2504	0.1769				p.G76G		Atlas-SNP	.											TSPAN2,NS,carcinoma,0,1	TSPAN2	37	1	0			c.G228A						PASS	.	C		1292,3114		199,894,1110	54	47	49		228	-4.3	1	1	dbSNP_120	49	2512,6082		378,1756,2163	no	coding-synonymous	TSPAN2	NM_005725.4		577,2650,3273	TT,TC,CC		29.2297,29.3236,29.2615		76/222	115604798	3804,9196	2203	4297	6500	SO:0001819	synonymous_variant	10100	exon3			GCAGCACCCGAAG	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.228G>A	1.37:g.115604798C>T		Somatic	323	1	0.00309598		WXS	Illumina HiSeq	Phase_I	315	145	0.460317	NM_005725	D6PTH4|Q5TET2|Q8WU05	Silent	SNP	ENST00000369516.2	37	CCDS881.1																																																																																			C|0.686;T|0.314	0.314	strong		0.627	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		T	115604798	C	T	115604798	2	4	22	1	0	0	0	0	0	0	0	1	16641	494	18	2		2	TSPAN2	1	115604798	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3270	115604798	133645823	521	5629										
C1orf161	126868	hgsc.bcm.edu	37	chr1	116670774	116670774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttcttccagtcgtttggAtttaacttgttggcctgttc	8	9	2	0	rs10754431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:116670774A>G	ENST00000369500.3	+	6	934	c.669A>G	c.(667-669)ggA>ggG	p.G223G	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	223										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGTCGTTTGGATTTAACTTGT	0.468													G|||	2091	0.417532	0.9009	0.2983	5008	,	,		21590	0.2748		0.2227	False		,,,				2504	0.1963				p.G223G		Atlas-SNP	.											.	MAB21L3	33	.	0			c.A669G						PASS	.	G		3409,997	370.8+/-319.7	1330,749,124	108	116	113		669	0.2	0.4	1	dbSNP_120	113	1850,6750	730.1+/-406.7	190,1470,2640	no	coding-synonymous	MAB21L3	NM_152367.2		1520,2219,2764	GG,GA,AA		21.5116,22.6282,40.4352		223/363	116670774	5259,7747	2203	4300	6503	SO:0001819	synonymous_variant	126868	exon6			GTTTGGATTTAAC	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.669A>G	1.37:g.116670774A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	142	142	1	NM_152367	Q5TDL7	Silent	SNP	ENST00000369500.3	37	CCDS886.1																																																																																			A|0.608;G|0.392	0.392	strong		0.468	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		G	116670774	A	G	116670774	2	3	22	1	0	0	0	0	0	0	0	1	2009	320	12	2		2	C1orf161	1	116670774	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1065976	116670774	132579847	522	5630										
ATP1A1	476	hgsc.bcm.edu	37	chr1	116932921	116932921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggagaccttggggtccacGtccaccatctgctctgataa	11	12	2	2	rs11540956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:116932921G>A	ENST00000295598.5	+	9	1362	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	ATP1A1_ENST00000369496.4_Silent_p.T339T|ATP1A1_ENST00000537345.1_Silent_p.T370T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	370					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	tgggGTCCACGTCCACCATCT	0.458													G|||	406	0.0810703	0.2474	0.0216	5008	,	,		16845	0.0		0.0298	False		,,,				2504	0.0348				p.T370T		Atlas-SNP	.											.	ATP1A1	87	.	0			c.G1110A						PASS	.	G	,,	857,3549	337.3+/-304.8	88,681,1434	82	73	76		1110,1110,1017	-5.5	1	1	dbSNP_120	76	229,8371	93.3+/-155.3	3,223,4074	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP1A1	NM_000701.7,NM_001160233.1,NM_001160234.1	,,	91,904,5508	AA,AG,GG		2.6628,19.4507,8.35	,,	370/1024,370/1024,339/993	116932921	1086,11920	2203	4300	6503	SO:0001819	synonymous_variant	476	exon9			GTCCACGTCCACC	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1110G>A	1.37:g.116932921G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	148	67	0.452703	NM_001160233	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	CCDS887.1																																																																																			G|0.903;A|0.097	0.097	strong		0.458	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		A	116932921	G	A	116932921	2	1	22	1	0	0	0	0	0	0	0	1	1128	1132	40	1		1	ATP1A1	1	116932921	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262147	116932921	132317700	523	5631										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117131407	117131407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagcagccactcctccacGtggcagtagtagctgccgct	10	16	1	0	rs57816525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117131407G>A	ENST00000369486.3	-	8	3114	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	IGSF3_ENST00000318837.6_Silent_p.H803H|IGSF3_ENST00000369483.1_Silent_p.H803H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	783	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTCCTCCACGTGGCAGTAGT	0.617													g|||	237	0.0473243	0.152	0.0173	5008	,	,		15573	0.002		0.0	False		,,,				2504	0.0225				p.H803H		Atlas-SNP	.											.	IGSF3	294	.	0			c.C2409T						PASS	.	A	,	548,3854		28,492,1681	32	33	33		2349,2409	-3.3	1	1	dbSNP_129	33	14,8564		0,14,4275	no	coding-synonymous,coding-synonymous	IGSF3	NM_001007237.1,NM_001542.2	,	28,506,5956	AA,AG,GG		0.1632,12.4489,4.3297	,	783/1195,803/1215	117131407	562,12418	2201	4289	6490	SO:0001819	synonymous_variant	3321	exon9			CTCCACGTGGCAG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2349C>T	1.37:g.117131407G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	203	98	0.482759	NM_001542	A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																			G|0.962;A|0.038	0.038	strong		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117131407	G	A	117131407	2	1	22	1	0	0	0	0	0	0	0	1	7601	1136	40	1		1	IGSF3	1	117131407	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	198486	117131407	132119214	524	5632										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117146319	117146319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcgccatccactgcccgCacccattcagtcacatggca	6	19	2	0	rs61730486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117146319C>T	ENST00000369486.3	-	6	2316	c.1551G>A	c.(1549-1551)gtG>gtA	p.V517V	IGSF3_ENST00000318837.6_Silent_p.V537V|IGSF3_ENST00000369483.1_Silent_p.V537V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	517	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCACTGCCCGCACCCATTCAG	0.607													C|||	267	0.0533147	0.1157	0.0115	5008	,	,		16536	0.0635		0.0	False		,,,				2504	0.0429				p.V537V		Atlas-SNP	.											.	IGSF3	294	.	0			c.G1611A						PASS	.	C	,	408,3998	202.5+/-225.2	11,386,1806	63	55	58		1551,1611	2	1	1	dbSNP_129	58	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous	IGSF3	NM_001007237.1,NM_001542.2	,	11,394,6098	TT,TC,CC		0.093,9.2601,3.1985	,	517/1195,537/1215	117146319	416,12590	2203	4300	6503	SO:0001819	synonymous_variant	3321	exon7			TGCCCGCACCCAT	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1551G>A	1.37:g.117146319C>T		Somatic	197	1	0.00507614		WXS	Illumina HiSeq	Phase_I	200	105	0.525	NM_001542	A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																			C|0.965;T|0.035	0.035	strong		0.607	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117146319	C	T	117146319	2	4	22	1	0	0	0	0	0	0	0	1	7601	697	25	2		2	IGSF3	1	117146319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14912	117146319	132104302	525	5633										
PTGFRN	5738	hgsc.bcm.edu	37	chr1	117452869	117452869	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgctggcgctcctgtCgttgggtgagtgtgcgcggg	19	10	0	1	rs77292583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117452869C>G	ENST00000393203.2	+	1	191	c.44C>G	c.(43-45)tCg>tGg	p.S15W	RP4-753F5.1_ENST00000610171.1_lincRNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	15					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCGCTCCTGTCGTTGGGTGAG	0.786													C|||	146	0.0291534	0.1074	0.0058	5008	,	,		7813	0.0		0.0	False		,,,				2504	0.0				p.S15W		Atlas-SNP	.											PTGFRN,NS,carcinoma,0,1	PTGFRN	91	1	0			c.C44G						PASS	.	C	TRP/SER	237,3861		2,233,1814	4	6	5		44	0.3	0.1	1	dbSNP_132	5	3,8095		0,3,4046	no	missense	PTGFRN	NM_020440.2	177	2,236,5860	GG,GC,CC		0.037,5.7833,1.9679	benign	15/880	117452869	240,11956	2049	4049	6098	SO:0001583	missense	5738	exon1			TCCTGTCGTTGGG	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.44C>G	1.37:g.117452869C>G	ENSP00000376899:p.Ser15Trp	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_020440	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	47	0.02152014652014652	45	0.09146341463414634	2	0.0055248618784530384	0	0.0	0	0.0	C	5.911	0.352168	0.11182	0.057833	3.7E-4	ENSG00000134247	ENST00000393203	T	0.03982	3.74	3.41	0.296	0.15757	Immunoglobulin-like (1);	6.098340	0.00166	N	0.000011	T	0.01156	0.0038	N	0.14661	0.345	0.44214	D	0.997042	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.66056	D	0.02	0.1948	3.6279	0.08120	0.0:0.498:0.2382:0.2638	.	15	Q9P2B2	FPRP_HUMAN	W	15	ENSP00000376899:S15W	ENSP00000376899:S15W	S	+	2	0	PTGFRN	117254392	0.444000	0.25649	0.089000	0.20774	0.001000	0.01503	-0.612000	0.05616	-0.140000	0.11394	-0.481000	0.04817	TCG	C|0.978;G|0.022	0.022	strong		0.786	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		G	117452869	C	G	117452869	3	3	22	1	0	0	0	0	1	0	0	0	12750	893	31	4	46	4	PTGFRN	1	117452869	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	306550	117452869	131797752	526	5634										
PTGFRN	5738	hgsc.bcm.edu	37	chr1	117484581	117484581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctgttaaggcggactgcCaacgacgccgtggagctcca	12	13	0	0	rs77895792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117484581C>T	ENST00000393203.2	+	2	441	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	98	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGCGGACTGCCAACGACGCCG	0.592													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.0				p.A98A		Atlas-SNP	.											.	PTGFRN	91	.	0			c.C294T						PASS	.	C		46,4360	46.7+/-81.2	0,46,2157	85	79	81		294	4.2	1	1	dbSNP_131	81	0,8600		0,0,4300	no	coding-synonymous	PTGFRN	NM_020440.2		0,46,6457	TT,TC,CC		0.0,1.044,0.3537		98/880	117484581	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	5738	exon2			GACTGCCAACGAC	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.294C>T	1.37:g.117484581C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	199	100	0.502513	NM_020440	Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	CCDS890.1																																																																																			C|0.995;T|0.005	0.005	strong		0.592	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		T	117484581	C	T	117484581	2	4	22	1	0	0	0	0	0	0	0	1	12750	581	21	2		2	PTGFRN	1	117484581	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31712	117484581	131766040	527	5635										
PTGFRN	5738	hgsc.bcm.edu	37	chr1	117527444	117527444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgacctcagcctggagcgCgtgagtgtgctggaattctt	14	10	2	1	rs17036676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117527444C>T	ENST00000393203.2	+	8	2457	c.2310C>T	c.(2308-2310)cgC>cgT	p.R770R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	770	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCCTGGAGCGCGTGAGTGTGC	0.587													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		21854	0.0		0.0	False		,,,				2504	0.0				p.R770R		Atlas-SNP	.											PTGFRN,NS,chondrosarcoma,+1,1	PTGFRN	91	1	0			c.C2310T						PASS	.	C		60,4346	56.2+/-92.4	1,58,2144	219	170	187		2310	-11.2	0	1	dbSNP_123	187	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PTGFRN	NM_020440.2		1,60,6442	TT,TC,CC		0.0233,1.3618,0.4767		770/880	117527444	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	5738	exon8			GGAGCGCGTGAGT	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2310C>T	1.37:g.117527444C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	193	94	0.487047	NM_020440	Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	CCDS890.1																																																																																			C|0.994;T|0.006	0.006	strong		0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		T	117527444	C	T	117527444	2	4	22	1	0	0	0	0	0	0	0	1	12750	755	27	1		1	PTGFRN	1	117527444	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42863	117527444	131723177	528	5636										
CD101	9398	hgsc.bcm.edu	37	chr1	117552560	117552560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcagcattggctgcaaTgtaactggccaccagggacc	11	13	1	0	rs7554376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117552560T>C	ENST00000256652.4	+	2	190	c.132T>C	c.(130-132)aaT>aaC	p.N44N	CD101_ENST00000369470.1_Silent_p.N44N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	44	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGGCTGCAATGTAACTGGCC	0.502													T|||	333	0.0664936	0.1573	0.0591	5008	,	,		20033	0.0		0.0606	False		,,,				2504	0.0235				p.N44N		Atlas-SNP	.											.	CD101	95	.	0			c.T132C						PASS	.	T		685,3721	287.5+/-279.3	45,595,1563	104	94	98		132	-11.6	0	1	dbSNP_116	98	582,8018	155.2+/-209.3	26,530,3744	no	coding-synonymous	CD101	NM_004258.3		71,1125,5307	CC,CT,TT		6.7674,15.547,9.7417		44/1022	117552560	1267,11739	2203	4300	6503	SO:0001819	synonymous_variant	9398	exon2			CTGCAATGTAACT	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.132T>C	1.37:g.117552560T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_001256109	Q15856	Silent	SNP	ENST00000256652.4	37	CCDS891.1																																																																																			T|0.915;C|0.085	0.085	strong		0.502	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		C	117552560	T	C	117552560	2	2	22	1	0	0	0	0	0	0	0	1	2962	1461	51	2		2	CD101	1	117552560	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25116	117552560	131698061	529	5637										
CD101	9398	hgsc.bcm.edu	37	chr1	117560058	117560058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccaggccagagatctgagCtggactcagaagatttcagt	11	9	3	4	rs17235773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117560058C>G	ENST00000256652.4	+	5	1633	c.1575C>G	c.(1573-1575)agC>agG	p.S525R	CD101_ENST00000369470.1_Missense_Mutation_p.S525R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	525	Ig-like C2-type 4.		S -> R (in dbSNP:rs17235773).		cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGATCTGAGCTGGACTCAGA	0.473													C|||	169	0.033746	0.0522	0.0461	5008	,	,		22414	0.0		0.0596	False		,,,				2504	0.0082				p.S525R		Atlas-SNP	.											.	CD101	95	.	0			c.C1575G						PASS	.	C	ARG/SER	304,4102	164.0+/-195.7	8,288,1907	71	74	73		1575	2.6	0.4	1	dbSNP_123	73	558,8042	151.8+/-206.5	22,514,3764	yes	missense	CD101	NM_004258.3	110	30,802,5671	GG,GC,CC		6.4884,6.8997,6.6277	probably-damaging	525/1022	117560058	862,12144	2203	4300	6503	SO:0001583	missense	9398	exon5			TCTGAGCTGGACT	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1575C>G	1.37:g.117560058C>G	ENSP00000256652:p.Ser525Arg	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	171	86	0.502924	NM_001256109	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	93	0.042582417582417584	31	0.06300813008130081	15	0.04143646408839779	0	0.0	47	0.06200527704485488	C	15.24	2.776063	0.49786	0.068997	0.064884	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22336	1.96;1.96	4.52	2.59	0.31030	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.767080	0.12461	N	0.466920	T	0.14874	0.0359	M	0.62723	1.935	0.29048	N	0.884698	P	0.50710	0.938	P	0.50314	0.637	T	0.07731	-1.0757	10	0.72032	D	0.01	0.0806	5.94	0.19187	0.0:0.6883:0.2048:0.107	rs17235773	525	Q93033	IGSF2_HUMAN	R	525	ENSP00000256652:S525R;ENSP00000358482:S525R	ENSP00000256652:S525R	S	+	3	2	CD101	117361581	0.066000	0.20996	0.440000	0.26846	0.797000	0.45037	0.049000	0.14099	0.611000	0.30052	0.655000	0.94253	AGC	C|0.944;G|0.056	0.056	strong		0.473	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		G	117560058	C	G	117560058	3	3	22	1	0	0	0	0	1	0	0	0	2962	796	28	4	1593	4	CD101	1	117560058	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7498	117560058	131690563	530	5638										
CD101	9398	hgsc.bcm.edu	37	chr1	117576631	117576631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacactgcgttccaacacaCggaaagaaaaagctctctgg	8	12	1	1	rs34248572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117576631C>T	ENST00000256652.4	+	9	3032	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	CD101_ENST00000369470.1_Missense_Mutation_p.R992W|RP11-27K13.3_ENST00000421254.1_RNA|RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000467588.1_3'UTR	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	992			R -> W (in dbSNP:rs34248572).		cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCCAACACACGGAAAGAAAA	0.517													C|||	117	0.0233626	0.0817	0.0115	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0				p.R992W		Atlas-SNP	.											CD101,NS,carcinoma,-1,1	CD101	95	1	0			c.C2974T						PASS	.	C	TRP/ARG	286,4120	157.0+/-190.0	13,260,1930	123	112	116		2974	-0.3	0	1	dbSNP_126	116	5,8595	3.0+/-9.4	0,5,4295	yes	missense	CD101	NM_004258.3	101	13,265,6225	TT,TC,CC		0.0581,6.4911,2.2374	probably-damaging	992/1022	117576631	291,12715	2203	4300	6503	SO:0001583	missense	9398	exon9			AACACACGGAAAG	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2974C>T	1.37:g.117576631C>T	ENSP00000256652:p.Arg992Trp	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	112	53	0.473214	NM_001256109	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	48	0.02197802197802198	45	0.09146341463414634	3	0.008287292817679558	0	0.0	0	0.0	C	14.76	2.631571	0.46944	0.064911	5.81E-4	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03772	3.81;3.81	5.83	-0.273	0.12915	.	1.475580	0.04746	N	0.423700	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.49234	-0.8961	10	0.72032	D	0.01	-0.5271	9.27	0.37666	0.5351:0.3393:0.1256:0.0	rs34248572	992	Q93033	IGSF2_HUMAN	W	992	ENSP00000256652:R992W;ENSP00000358482:R992W	ENSP00000256652:R992W	R	+	1	2	CD101	117378154	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-0.056000	0.11787	0.306000	0.22856	0.563000	0.77884	CGG	C|0.972;T|0.028	0.028	strong		0.517	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		T	117576631	C	T	117576631	3	4	22	1	0	0	0	0	1	0	0	0	2962	527	19	1	3008	1	CD101	1	117576631	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16573	117576631	131673990	531	5639										
TTF2	8458	hgsc.bcm.edu	37	chr1	117618024	117618024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacagtcacaactcaataaGcaagccccagaaagggggac	9	12	3	1	rs17036832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117618024G>C	ENST00000369466.4	+	5	862	c.818G>C	c.(817-819)aGc>aCc	p.S273T		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	273					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AACTCAATAAGCAAGCCCCAG	0.473													G|||	125	0.0249601	0.09	0.0072	5008	,	,		19352	0.0		0.001	False		,,,				2504	0.0				p.S273T		Atlas-SNP	.											.	TTF2	92	.	0			c.G818C						PASS	.	G	THR/SER	262,4144	143.8+/-178.8	17,228,1958	98	109	105		818	-1.2	0	1	dbSNP_123	105	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TTF2	NM_003594.3	58	17,233,6253	CC,CG,GG		0.0581,5.9464,2.0529	benign	273/1163	117618024	267,12739	2203	4300	6503	SO:0001583	missense	8458	exon5			CAATAAGCAAGCC	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.818G>C	1.37:g.117618024G>C	ENSP00000358478:p.Ser273Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	118	58	0.491525	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	49	0.022435897435897436	45	0.09146341463414634	4	0.011049723756906077	0	0.0	0	0.0	G	10.55	1.380822	0.24944	0.059464	5.81E-4	ENSG00000116830	ENST00000369466	D	0.86956	-2.19	5.13	-1.21	0.09524	.	0.471757	0.18081	N	0.152313	T	0.61974	0.2390	L	0.56769	1.78	0.09310	N	1	B;B	0.20052	0.002;0.041	B;B	0.14578	0.003;0.011	T	0.48502	-0.9030	10	0.24483	T	0.36	-0.004	1.0168	0.01509	0.3182:0.2659:0.2795:0.1364	rs17036832;rs52826473;rs17036832	273;273	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	T	273	ENSP00000358478:S273T	ENSP00000358478:S273T	S	+	2	0	TTF2	117419547	0.000000	0.05858	0.005000	0.12908	0.093000	0.18481	-0.924000	0.03996	-0.081000	0.12662	0.655000	0.94253	AGC	A|0.000;C|0.019;G|0.980	0.019	strong		0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			C	117618024	G	C	117618024	3	2	22	1	0	0	0	0	1	0	0	0	16716	971	34	4	836	4	TTF2	1	117618024	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41393	117618024	131632597	532	5640										
TTF2	8458	hgsc.bcm.edu	37	chr1	117637966	117637966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaattggaggcaattcaAagaaattcagcatcccaaaa	8	8	2	2	rs34079217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117637966A>G	ENST00000369466.4	+	19	3056	c.3012A>G	c.(3010-3012)caA>caG	p.Q1004Q	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1004	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGGCAATTCAAAGAAATTCAG	0.358													A|||	171	0.0341454	0.1263	0.0058	5008	,	,		22139	0.0		0.0	False		,,,				2504	0.0				p.Q1004Q		Atlas-SNP	.											.	TTF2	92	.	0			c.A3012G						PASS	.	A		535,3871	240.9+/-251.5	30,475,1698	133	136	135		3012	2.4	0.5	1	dbSNP_126	135	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	TTF2	NM_003594.3		30,481,5992	GG,GA,AA		0.0698,12.1425,4.1596		1004/1163	117637966	541,12465	2203	4300	6503	SO:0001819	synonymous_variant	8458	exon19			AATTCAAAGAAAT	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3012A>G	1.37:g.117637966A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	CCDS892.1																																																																																			A|0.964;G|0.036	0.036	strong		0.358	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			G	117637966	A	G	117637966	2	3	22	1	0	0	0	0	0	0	0	1	16716	11	1	2		2	TTF2	1	117637966	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19942	117637966	131612655	533	5641										
TRIM45	80263	hgsc.bcm.edu	37	chr1	117656088	117656088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggtgctttctcctcaccAtcacagtgaatggcgagccc	11	14	3	1	rs1289658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117656088A>G	ENST00000256649.4	-	5	2013	c.1487T>C	c.(1486-1488)aTg>aCg	p.M496T	TRIM45_ENST00000369464.3_Missense_Mutation_p.M478T|TRIM45_ENST00000369461.3_Missense_Mutation_p.M439T	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	496			M -> T (in dbSNP:rs1289658). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15351693, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCTCCTCACCATCACAGTGAA	0.557													G|||	2229	0.445088	0.6793	0.4755	5008	,	,		22011	0.1865		0.4364	False		,,,				2504	0.3824				p.M496T		Atlas-SNP	.											.	TRIM45	55	.	0			c.T1487C						PASS	.	G	THR/MET,THR/MET	2732,1674	508.8+/-367.0	873,986,344	66	61	62		1433,1487	4	0.6	1	dbSNP_87	62	3455,5145	636.3+/-399.1	680,2095,1525	yes	missense,missense	TRIM45	NM_001145635.1,NM_025188.3	81,81	1553,3081,1869	GG,GA,AA		40.1744,37.9936,47.5704	benign,benign	478/563,496/581	117656088	6187,6819	2203	4300	6503	SO:0001583	missense	80263	exon5			CTCACCATCACAG		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1487T>C	1.37:g.117656088A>G	ENSP00000256649:p.Met496Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_025188	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	909	0.41620879120879123	317	0.6443089430894309	169	0.46685082872928174	93	0.16258741258741258	330	0.43535620052770446	G	0.005	-2.228181	0.00280	0.620064	0.401744	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.39406	2.08;1.08;2.08	4.96	3.99	0.46301	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.522971	0.20258	N	0.095923	T	0.02929	0.0087	N	0.00823	-1.155	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39663	-0.9603	9	0.07030	T	0.85	-10.0408	3.8833	0.09088	0.1845:0.0:0.4103:0.4052	rs1289658;rs17524007;rs52814348;rs60516003;rs1289658	478;496	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	T	496;478;439	ENSP00000256649:M496T;ENSP00000358476:M478T;ENSP00000358473:M439T	ENSP00000256649:M496T	M	-	2	0	TRIM45	117457611	0.023000	0.18921	0.629000	0.29254	0.342000	0.28953	0.149000	0.16243	0.562000	0.29204	-0.213000	0.12676	ATG	A|0.549;G|0.451	0.451	strong		0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		G	117656088	A	G	117656088	3	3	22	1	0	0	0	0	1	0	0	0	16517	217	8	2	263	2	TRIM45	1	117656088	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18122	117656088	131594533	534	5642										
TRIM45	80263	hgsc.bcm.edu	37	chr1	117659292	117659292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacgttgtctcctcccctgCccatgatttctcctgcggca	8	16	2	1	rs76902778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:117659292C>T	ENST00000256649.4	-	3	1824	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	TRIM45_ENST00000369464.3_Missense_Mutation_p.G415D|TRIM45_ENST00000369461.3_Missense_Mutation_p.G376D	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	433					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCCTCCCCTGCCCATGATTTC	0.483													C|||	235	0.0469249	0.0272	0.0101	5008	,	,		19218	0.0774		0.0229	False		,,,				2504	0.093				p.G433D		Atlas-SNP	.											TRIM45,caecum,carcinoma,+1,1	TRIM45	55	1	0			c.G1298A						PASS	.	C	ASP/GLY,ASP/GLY	191,4215	121.3+/-158.8	3,185,2015	90	85	87		1244,1298	4.2	1	1	dbSNP_131	87	176,8424	80.6+/-143.3	1,174,4125	yes	missense,missense	TRIM45	NM_001145635.1,NM_025188.3	94,94	4,359,6140	TT,TC,CC		2.0465,4.335,2.8218	possibly-damaging,possibly-damaging	415/563,433/581	117659292	367,12639	2203	4300	6503	SO:0001583	missense	80263	exon3			CCCCTGCCCATGA		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1298G>A	1.37:g.117659292C>T	ENSP00000256649:p.Gly433Asp	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	96	35	0.364583	NM_025188	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	82	0.037545787545787544	11	0.022357723577235773	3	0.008287292817679558	49	0.08566433566433566	19	0.025065963060686015	C	10.14	1.268814	0.23136	0.04335	0.020465	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.84298	-1.83;-1.83;-1.83	5.09	4.18	0.49190	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.498732	0.21918	N	0.067214	T	0.77267	0.4105	M	0.80028	2.48	0.25612	P	0.9864925	P;P	0.40834	0.73;0.552	B;B	0.41412	0.283;0.356	T	0.74734	-0.3565	9	0.16420	T	0.52	-15.1848	10.8074	0.46527	0.0:0.9136:0.0:0.0864	.	415;433	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	D	433;415;376	ENSP00000256649:G433D;ENSP00000358476:G415D;ENSP00000358473:G376D	ENSP00000256649:G433D	G	-	2	0	TRIM45	117460815	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	2.912000	0.48782	1.378000	0.46305	0.563000	0.77884	GGC	C|0.971;T|0.029	0.029	strong		0.483	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		T	117659292	C	T	117659292	3	4	22	1	0	0	0	0	1	0	0	0	16517	739	26	2	460	2	TRIM45	1	117659292	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3204	117659292	131591329	535	5643										
FAM46C	54855	hgsc.bcm.edu	37	chr1	118166195	118166195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactgatcgccaccaagaaCccagaagaaatcagaggcgg	11	11	1	6	rs10923359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:118166195C>T	ENST00000369448.3	+	2	952	c.705C>T	c.(703-705)aaC>aaT	p.N235N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCACCAAGAACCCAGAAGAAA	0.527			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			C|||	85	0.0169728	0.0613	0.0058	5008	,	,		18879	0.0		0.0	False		,,,				2504	0.0				p.N235N		Atlas-SNP	.		Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	.	FAM46C	25	.	0			c.C705T						PASS	.	C		207,4199	127.4+/-164.3	6,195,2002	69	74	72		705	4.8	1	1	dbSNP_120	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAM46C	NM_017709.3		6,197,6300	TT,TC,CC		0.0233,4.6981,1.607		235/392	118166195	209,12797	2203	4300	6503	SO:0001819	synonymous_variant	54855	exon2			CAAGAACCCAGAA	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.705C>T	1.37:g.118166195C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	128	56	0.4375	NM_017709	A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	CCDS896.1																																																																																			C|0.979;T|0.021	0.021	strong		0.527	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		T	118166195	C	T	118166195	2	4	22	1	0	0	0	0	0	0	0	1	5567	506	18	2		2	FAM46C	1	118166195	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	506903	118166195	131084426	536	5644										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118512719	118512719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcagtcctgtgctgggtGggggctgctttactttaaac	12	9	1	0	rs140504036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:118512719G>T	ENST00000336338.5	-	46	6412	c.6347C>A	c.(6346-6348)cCa>cAa	p.P2116Q	SPAG17_ENST00000492438.1_5'Flank	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2116						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTGCTGGGTGGGGGCTGCTT	0.393													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18332	0.0		0.0	False		,,,				2504	0.0				p.P2116Q		Atlas-SNP	.											.	SPAG17	263	.	0			c.C6347A						PASS	.	G	GLN/PRO	8,4398	14.3+/-33.2	0,8,2195	141	139	140		6347	5.3	1	1	dbSNP_134	140	0,8600		0,0,4300	yes	missense	SPAG17	NM_206996.2	76	0,8,6495	TT,TG,GG		0.0,0.1816,0.0615	probably-damaging	2116/2224	118512719	8,12998	2203	4300	6503	SO:0001583	missense	200162	exon46			CTGGGTGGGGGCT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6347C>A	1.37:g.118512719G>T	ENSP00000337804:p.Pro2116Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974497	0.74246	0.001816	0.0	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.21031	2.03	5.3	5.3	0.74995	.	0.067501	0.64402	D	0.000011	T	0.37732	0.1014	M	0.78049	2.395	0.32515	N	0.536992	D	0.67145	0.996	D	0.65573	0.936	T	0.30909	-0.9962	10	0.87932	D	0	.	15.9899	0.80197	0.0:0.0:1.0:0.0	.	2116	Q6Q759	SPG17_HUMAN	Q	2116;596	ENSP00000337804:P2116Q	ENSP00000337804:P2116Q	P	-	2	0	SPAG17	118314242	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.801000	0.69115	2.775000	0.95449	0.650000	0.86243	CCA	G|0.999;T|0.001	0.001	strong		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118512719	G	T	118512719	3	4	22	1	0	0	0	0	1	0	0	0	14979	1348	47	4	336	4	SPAG17	1	118512719	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	346524	118512719	130737902	537	5645										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118598362	118598362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactggttacttacttttagAttctttaatggaaaaaattt	5	4	1	1	rs138706127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:118598362A>G	ENST00000336338.5	-	19	2781	c.2716T>C	c.(2716-2718)Tct>Cct	p.S906P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	906						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTACTTTTAGATTCTTTAATG	0.303													A|||	23	0.00459265	0.0174	0.0	5008	,	,		16823	0.0		0.0	False		,,,				2504	0.0				p.S906P		Atlas-SNP	.											SPAG17,NS,haematopoietic_neoplasm,0,1	SPAG17	263	1	0			c.T2716C						scavenged	.	A	PRO/SER	93,4307	73.6+/-111.7	1,91,2108	67	68	68		2716	4.4	1	1	dbSNP_134	68	1,8595	1.2+/-3.3	0,1,4297	yes	missense	SPAG17	NM_206996.2	74	1,92,6405	GG,GA,AA		0.0116,2.1136,0.7233	possibly-damaging	906/2224	118598362	94,12902	2200	4298	6498	SO:0001583	missense	200162	exon19			TTTTAGATTCTTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2716T>C	1.37:g.118598362A>G	ENSP00000337804:p.Ser906Pro	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	60	38	0.633333	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	A	13.34	2.206952	0.39003	0.021136	1.16E-4	ENSG00000155761	ENST00000336338	T	0.30981	1.51	5.55	4.42	0.53409	.	0.557030	0.19693	N	0.108216	T	0.14787	0.0357	L	0.59436	1.845	0.27117	N	0.962222	B	0.18166	0.026	B	0.19391	0.025	T	0.18304	-1.0341	10	0.72032	D	0.01	.	9.3895	0.38363	0.9185:0.0:0.0815:0.0	.	906	Q6Q759	SPG17_HUMAN	P	906	ENSP00000337804:S906P	ENSP00000337804:S906P	S	-	1	0	SPAG17	118399885	1.000000	0.71417	0.999000	0.59377	0.166000	0.22503	2.832000	0.48152	1.112000	0.41740	0.477000	0.44152	TCT	A|0.993;G|0.007	0.007	strong		0.303	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118598362	A	G	118598362	3	3	22	1	0	0	0	0	1	0	0	0	14979	333	12	2	4075	2	SPAG17	1	118598362	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85643	118598362	130652259	538	5646										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118634297	118634297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgaattggattcagcaaatAattgtaatatctcatgtcta	6	6	3	0	rs150596428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:118634297A>C	ENST00000336338.5	-	10	1356	c.1291T>G	c.(1291-1293)Tat>Gat	p.Y431D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	431						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCAGCAAATAATTGTAATAT	0.383													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18256	0.0		0.0	False		,,,				2504	0.0				p.Y431D		Atlas-SNP	.											.	SPAG17	263	.	0			c.T1291G						PASS	.	C	ASP/TYR	28,4376	822.7+/-416.5	1,26,2175	89	85	86		1291	5.6	1	1	dbSNP_134	86	0,8600		0,0,4300	yes	missense	SPAG17	NM_206996.2	160	1,26,6475	CC,CA,AA		0.0,0.6358,0.2153	benign	431/2224	118634297	28,12976	2202	4300	6502	SO:0001583	missense	200162	exon10			GCAAATAATTGTA		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1291T>G	1.37:g.118634297A>C	ENSP00000337804:p.Tyr431Asp	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	145	59	0.406897	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	7.275	0.607874	0.14002	0.006358	0.0	ENSG00000155761	ENST00000336338	T	0.67171	-0.25	5.59	5.59	0.84812	.	0.259606	0.43747	N	0.000525	T	0.07863	0.0197	N	0.00043	-2.47	0.26007	N	0.982046	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	10	0.02654	T	1	.	16.0877	0.81070	0.1351:0.8649:0.0:0.0	.	431	Q6Q759	SPG17_HUMAN	D	431	ENSP00000337804:Y431D	ENSP00000337804:Y431D	Y	-	1	0	SPAG17	118435820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.779000	0.47734	1.387000	0.46486	-0.127000	0.14921	TAT	A|0.997;C|0.003	0.003	strong		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118634297	A	C	118634297	3	2	22	1	0	0	0	0	1	0	0	0	14979	362	13	5	5536	5	SPAG17	1	118634297	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35935	118634297	130616324	539	5647										
TBX15	6913	hgsc.bcm.edu	37	chr1	119427937	119427937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctgggtagctctgcaaGgcagccatgttgcttcgggc	14	12	1	0	rs145938710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:119427937G>A	ENST00000369429.3	-	8	1236	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	TBX15_ENST00000207157.3_Silent_p.A303A			Q96SF7	TBX15_HUMAN	T-box 15	409					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTCTGCAAGGCAGCCATGT	0.542													G|||	8	0.00159744	0.0061	0.0	5008	,	,		20115	0.0		0.0	False		,,,				2504	0.0				p.A303A		Atlas-SNP	.											.	TBX15	95	.	0			c.C909T						PASS	.	G		18,4388	23.3+/-48.9	0,18,2185	47	45	46		909	2.3	1	1	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous	TBX15	NM_152380.2		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		303/497	119427937	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	6913	exon8			CTGCAAGGCAGCC	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1227C>T	1.37:g.119427937G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	70	36	0.514286	NM_152380	Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37																																																																																				G|0.998;A|0.002	0.002	strong		0.542	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		A	119427937	G	A	119427937	2	1	22	1	0	0	0	0	0	0	0	1	15649	987	35	2		2	TBX15	1	119427937	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	793640	119427937	129822684	540	5648										
WARS2	10352	hgsc.bcm.edu	37	chr1	119575818	119575818	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacacgccagcgcggccagCcgggtcataggtgacctccg	15	15	1	1	rs3790549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:119575818C>G	ENST00000235521.4	-	6	825	c.799G>C	c.(799-801)Gct>Cct	p.A267P	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A173P	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	267			A -> P (in dbSNP:rs3790549).		gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCGCGGCCAGCCGGGTCATAG	0.627													C|||	485	0.096845	0.1127	0.0331	5008	,	,		16387	0.2143		0.0437	False		,,,				2504	0.0542				p.A267P		Atlas-SNP	.											.	WARS2	69	.	0			c.G799C						PASS	.	C	PRO/ALA,	454,3952	214.1+/-233.5	19,416,1768	72	68	69		799,	4.9	0	1	dbSNP_107	69	371,8229	122.2+/-181.2	10,351,3939	yes	missense,utr-3	WARS2	NM_015836.3,NM_201263.2	27,	29,767,5707	GG,GC,CC		4.314,10.3041,6.3432	benign,	267/361,	119575818	825,12181	2203	4300	6503	SO:0001583	missense	10352	exon6			GGCCAGCCGGGTC	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.799G>C	1.37:g.119575818C>G	ENSP00000235521:p.Ala267Pro	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	122	50	0.409836	NM_015836	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	210	0.09615384615384616	55	0.11178861788617886	20	0.055248618784530384	105	0.18356643356643357	30	0.0395778364116095	C	11.94	1.789287	0.31685	0.103041	0.04314	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.51071	0.72;0.72	5.87	4.88	0.63580	.	0.532643	0.21702	N	0.070403	T	0.20170	0.0485	N	0.04655	-0.195	0.80722	P	0.0	B;P	0.35527	0.355;0.507	B;B	0.43838	0.433;0.393	T	0.15321	-1.0441	9	0.48119	T	0.1	-3.8674	11.814	0.52199	0.1895:0.741:0.0:0.0695	rs3790549;rs3790549	210;267	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	P	267;173	ENSP00000235521:A267P;ENSP00000438807:A173P	ENSP00000235521:A267P	A	-	1	0	WARS2	119377341	0.036000	0.19791	0.008000	0.14137	0.448000	0.32197	2.312000	0.43726	2.785000	0.95823	0.655000	0.94253	GCT	C|0.914;G|0.086	0.086	strong		0.627	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		G	119575818	C	G	119575818	3	3	22	1	0	0	0	0	1	0	0	0	17247	739	26	4	287	4	WARS2	1	119575818	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147881	119575818	129674803	541	5649										
HSD3B2	3284	hgsc.bcm.edu	37	chr1	119962118	119962118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgaaaagagcctgccagGacgtctcggtcgtcatccac	10	14	2	2	rs4986954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:119962118G>A	ENST00000543831.1	+	3	469	c.220G>A	c.(220-222)Gac>Aac	p.D74N	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.D74N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	74			D -> N (in dbSNP:rs4986954).		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	AGCCTGCCAGGACGTCTCGGT	0.498													G|||	15	0.00299521	0.0113	0.0	5008	,	,		20071	0.0		0.0	False		,,,				2504	0.0				p.D74N		Atlas-SNP	.											.	HSD3B2	48	.	0			c.G220A						PASS	.	G	ASN/ASP,ASN/ASP	39,4367		1,37,2165	112	89	97		220,220	3.9	0.9	1	dbSNP_111	97	0,8600		0,0,4300	no	missense,missense	HSD3B2	NM_000198.3,NM_001166120.1	23,23	1,37,6465	AA,AG,GG		0.0,0.8852,0.2999	benign,benign	74/373,74/373	119962118	39,12967	2203	4300	6503	SO:0001583	missense	3284	exon3			TGCCAGGACGTCT	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.220G>A	1.37:g.119962118G>A	ENSP00000445122:p.Asp74Asn	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	196	88	0.44898	NM_001166120	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	CCDS902.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	-	14.37	2.514988	0.44763	0.008852	0.0	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.88509	-2.39;-2.39;-2.39	3.93	3.93	0.45458	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.054278	0.64402	D	0.000001	T	0.81969	0.4935	L	0.41906	1.305	0.30554	N	0.765177	P;P	0.36874	0.572;0.464	B;P	0.45913	0.173;0.497	T	0.77305	-0.2637	9	.	.	.	-17.182	13.5239	0.61584	0.0:0.0:1.0:0.0	rs4986954;rs52821087;rs4986954	74;74	P26439-2;P26439	.;3BHS2_HUMAN	N	74	ENSP00000445122:D74N;ENSP00000388292:D74N;ENSP00000358424:D74N	.	D	+	1	0	HSD3B2	119763641	1.000000	0.71417	0.934000	0.37439	0.009000	0.06853	7.003000	0.76310	1.943000	0.56356	0.298000	0.19748	GAC	G|0.996;A|0.004	0.004	strong		0.498	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		A	119962118	G	A	119962118	3	1	22	1	0	0	0	0	1	0	0	0	7391	1174	41	2	226	2	HSD3B2	1	119962118	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	386300	119962118	129288503	542	5650										
HSD3B2	3284	hgsc.bcm.edu	37	chr1	119964625	119964625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagaaggctgtgctggcGgctaatgggtggaatctaaa	16	6	1	1	rs6207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:119964625G>A	ENST00000543831.1	+	4	750	c.501G>A	c.(499-501)gcG>gcA	p.A167A	HSD3B2_ENST00000369416.3_Silent_p.A167A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	167			A -> V (in AH2; late onset; almost normal activity; dbSNP:rs35486059). {ECO:0000269|PubMed:10599696}.		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CTGTGCTGGCGGCTAATGGGT	0.488													G|||	15	0.00299521	0.0113	0.0	5008	,	,		19558	0.0		0.0	False		,,,				2504	0.0				p.A167A		Atlas-SNP	.											.	HSD3B2	48	.	0			c.G501A						PASS	.	G	,	41,4365		1,39,2163	77	77	77		501,501	-5.1	0.6	1	dbSNP_52	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HSD3B2	NM_000198.3,NM_001166120.1	,	1,39,6463	AA,AG,GG		0.0,0.9305,0.3152	,	167/373,167/373	119964625	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	3284	exon4			GCTGGCGGCTAAT	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.501G>A	1.37:g.119964625G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	148	77	0.52027	NM_001166120	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	CCDS902.1																																																																																			G|0.996;A|0.004	0.004	strong		0.488	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		A	119964625	G	A	119964625	2	1	22	1	0	0	0	0	0	0	0	1	7391	1103	39	1		1	HSD3B2	1	119964625	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2507	119964625	129285996	543	5651										
HSD3B1	3283	hgsc.bcm.edu	37	chr1	120054215	120054215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgccaggacgtctcggtcAtcatccacaccgcctgtatc	8	17	3	0	rs6201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120054215A>G	ENST00000369413.3	+	3	380	c.235A>G	c.(235-237)Atc>Gtc	p.I79V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.I81V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.I79V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	79			I -> V (in dbSNP:rs6201). {ECO:0000269|PubMed:10391209}.		androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CGTCTCGGTCATCATCCACAC	0.502													A|||	684	0.136581	0.385	0.0706	5008	,	,		20637	0.0546		0.005	False		,,,				2504	0.0675				p.I79V		Atlas-SNP	.											.	HSD3B1	53	.	0			c.A235G						PASS	.	A	VAL/ILE	1391,3015	452.2+/-349.9	229,933,1041	111	106	107		235	0.2	0.1	1	dbSNP_52	107	29,8571	20.4+/-63.3	0,29,4271	no	missense	HSD3B1	NM_000862.2	29	229,962,5312	GG,GA,AA		0.3372,31.5706,10.918	benign	79/374	120054215	1420,11586	2203	4300	6503	SO:0001583	missense	3283	exon3			TCGGTCATCATCC	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.235A>G	1.37:g.120054215A>G	ENSP00000358421:p.Ile79Val	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	203	103	0.507389	NM_000862	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	203	0.09294871794871795	161	0.32723577235772355	22	0.06077348066298342	19	0.033216783216783216	1	0.0013192612137203166	A	0	-2.693868	0.00098	0.315706	0.003372	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	T;D;D;D	0.82344	-1.46;-1.6;-1.6;-1.6	3.27	0.153	0.14897	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.063362	0.64402	N	0.000007	T	0.18964	0.0455	N	0.00277	-1.72	0.51767	P	6.700000000003925E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-8.2843	7.3042	0.26438	0.342:0.0:0.658:0.0	rs6201;rs60400881	81;79	Q5TDG2;P14060	.;3BHS1_HUMAN	V	79;79;81;79	ENSP00000435999:I79V;ENSP00000358421:I79V;ENSP00000235547:I81V;ENSP00000432268:I79V	ENSP00000235547:I81V	I	+	1	0	HSD3B1	119855738	0.996000	0.38824	0.124000	0.21820	0.006000	0.05464	2.367000	0.44213	0.119000	0.18210	-0.374000	0.07098	ATC	A|0.902;G|0.098	0.098	strong		0.502	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		G	120054215	A	G	120054215	3	3	22	1	0	0	0	0	1	0	0	0	7390	217	8	2	241	2	HSD3B1	1	120054215	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	89590	120054215	129196406	544	5652										
HSD3B1	3283	hgsc.bcm.edu	37	chr1	120057002	120057002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttgattccagatggagcTttcctttatccctgatgtat	8	10	0	3	rs6205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120057002T>C	ENST00000369413.3	+	4	1001	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F288L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F286L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	286			F -> L (in dbSNP:rs6205). {ECO:0000269|PubMed:10391209}.		androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CAGATGGAGCTTTCCTTTATC	0.473													C|||	790	0.157748	0.4546	0.0793	5008	,	,		20929	0.0595		0.007	False		,,,				2504	0.0685				p.F286L		Atlas-SNP	.											.	HSD3B1	53	.	0			c.T856C						PASS	.	C	LEU/PHE	1681,2725	650.5+/-399.1	322,1037,844	97	101	100		856	-0.2	0	1	dbSNP_52	100	33,8567	817.2+/-406.9	0,33,4267	no	missense	HSD3B1	NM_000862.2	22	322,1070,5111	CC,CT,TT		0.3837,38.1525,13.1785	benign	286/374	120057002	1714,11292	2203	4300	6503	SO:0001583	missense	3283	exon4			TGGAGCTTTCCTT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.856T>C	1.37:g.120057002T>C	ENSP00000358421:p.Phe286Leu	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	252	111	0.440476	NM_000862	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	275	0.1259157509157509	220	0.44715447154471544	26	0.0718232044198895	28	0.04895104895104895	1	0.0013192612137203166	C	0	-2.776107	0.00080	0.381525	0.003837	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	T;T;T	0.58797	0.31;0.31;0.31	3.26	-0.227	0.13102	3-beta hydroxysteroid dehydrogenase/isomerase (1);	0.940200	0.08995	N	0.863819	T	0.02193	0.0068	N	0.00017	-2.84	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33675	-0.9859	9	0.02654	T	1	-32.4736	3.9526	0.09375	0.3151:0.4743:0.0:0.2106	rs6205;rs52822637;rs61488575;rs6205	288;286	Q5TDG2;P14060	.;3BHS1_HUMAN	L	286;288;286	ENSP00000358421:F286L;ENSP00000235547:F288L;ENSP00000432268:F286L	ENSP00000235547:F288L	F	+	1	0	HSD3B1	119858525	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.805000	0.04530	-0.080000	0.12685	-1.993000	0.00448	TTT	T|0.859;C|0.141	0.141	strong		0.473	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		C	120057002	T	C	120057002	3	2	22	1	0	0	0	0	1	0	0	0	7390	1609	56	3	866	3	HSD3B1	1	120057002	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2787	120057002	129193619	545	5653										
HSD3B1	3283	hgsc.bcm.edu	37	chr1	120057163	120057163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggctcagcgagatctggcGtataagccactctacagctg	11	11	3	1	rs33913717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120057163G>A	ENST00000369413.3	+	4	1162	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	HSD3B1_ENST00000235547.6_Silent_p.A341A|HSD3B1_ENST00000528909.1_Silent_p.A339A			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	339					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GAGATCTGGCGTATAAGCCAC	0.517													g|||	37	0.00738818	0.0272	0.0014	5008	,	,		21238	0.0		0.0	False		,,,				2504	0.0				p.A339A		Atlas-SNP	.											HSD3B1,caecum,carcinoma,+1,1	HSD3B1	53	1	0			c.G1017A						PASS	.	A		118,4288	89.2+/-127.9	7,104,2092	83	73	76		1017	-6.5	0	1	dbSNP_126	76	0,8600		0,0,4300	yes	coding-synonymous	HSD3B1	NM_000862.2		7,104,6392	AA,AG,GG		0.0,2.6782,0.9073		339/374	120057163	118,12888	2203	4300	6503	SO:0001819	synonymous_variant	3283	exon4			TCTGGCGTATAAG	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1017G>A	1.37:g.120057163G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	250	127	0.508	NM_000862	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																			G|0.990;A|0.010	0.010	strong		0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		A	120057163	G	A	120057163	2	1	22	1	0	0	0	0	0	0	0	1	7390	1132	40	1		1	HSD3B1	1	120057163	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161	120057163	129193458	546	5654										
ZNF697	90874	hgsc.bcm.edu	37	chr1	120165412	120165412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgcacacttgtgcggcttGttgcccgtgtggatgcggcg	15	13	0	0	rs61734323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120165412G>A	ENST00000421812.2	-	3	1673	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TGTGCGGCTTGTTGCCCGTGT	0.642													G|||	60	0.0119808	0.0431	0.0029	5008	,	,		16736	0.0		0.001	False		,,,				2504	0.0				p.N518N		Atlas-SNP	.											.	ZNF697	26	.	0			c.C1554T						PASS	.	G		129,4179		2,125,2027	12	17	15		1554	4.1	1	1	dbSNP_129	15	1,8545		0,1,4272	no	coding-synonymous	ZNF697	NM_001080470.1		2,126,6299	AA,AG,GG		0.0117,2.9944,1.0114		518/546	120165412	130,12724	2154	4273	6427	SO:0001819	synonymous_variant	90874	exon3			CGGCTTGTTGCCC	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1554C>T	1.37:g.120165412G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	153	72	0.470588	NM_001080470	Q96IT2	Silent	SNP	ENST00000421812.2	37	CCDS44202.1																																																																																			G|0.994;A|0.006	0.006	strong		0.642	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120165412	G	A	120165412	2	1	22	1	0	0	0	0	0	0	0	1	18097	1368	48	2		2	ZNF697	1	120165412	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108249	120165412	129085209	547	5655										
REG4	83998	hgsc.bcm.edu	37	chr1	120341193	120341193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccaggatctgtacagataCatggccccatcaatccactg	8	13	2	1	rs75358916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120341193C>T	ENST00000354219.1	-	6	775	c.336G>A	c.(334-336)atG>atA	p.M112I	REG4_ENST00000530654.1_Intron|REG4_ENST00000256585.5_Missense_Mutation_p.M112I	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	112	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TGTACAGATACATGGCCCCAT	0.532													C|||	42	0.00838658	0.031	0.0014	5008	,	,		17162	0.0		0.0	False		,,,				2504	0.0				p.M112I		Atlas-SNP	.											.	REG4	36	.	0			c.G336A						PASS	.	C	ILE/MET,ILE/MET	128,4278	93.4+/-132.2	2,124,2077	201	185	190		336,336	-7.1	0	1	dbSNP_131	190	0,8600		0,0,4300	yes	missense,missense	REG4	NM_001159352.1,NM_032044.3	10,10	2,124,6377	TT,TC,CC		0.0,2.9051,0.9842	benign,benign	112/159,112/159	120341193	128,12878	2203	4300	6503	SO:0001583	missense	83998	exon5			CAGATACATGGCC	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.336G>A	1.37:g.120341193C>T	ENSP00000346158:p.Met112Ile	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	225	120	0.533333	NM_032044	Q8NER6|Q8NER7	Missense_Mutation	SNP	ENST00000354219.1	37	CCDS906.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	C	9.514	1.106451	0.20632	0.029051	0.0	ENSG00000134193	ENST00000354219;ENST00000256585	T;T	0.07216	3.21;3.21	5.02	-7.05	0.01573	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.458410	0.04405	N	0.364865	T	0.01156	0.0038	N	0.11756	0.17	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.43523	-0.9386	10	0.32370	T	0.25	0.8924	7.2514	0.26152	0.0:0.1828:0.4589:0.3583	.	112	Q9BYZ8	REG4_HUMAN	I	112	ENSP00000346158:M112I;ENSP00000256585:M112I	ENSP00000256585:M112I	M	-	3	0	REG4	120142716	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.742000	0.01835	-1.675000	0.01459	-0.893000	0.02921	ATG	C|0.991;T|0.009	0.009	strong		0.532	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		T	120341193	C	T	120341193	3	4	22	1	0	0	0	0	1	0	0	0	13214	478	17	2	148	2	REG4	1	120341193	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	175781	120341193	128909428	548	5656										
NBPF7	343505	hgsc.bcm.edu	37	chr1	120378657	120378657	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcttcccctttggaattGgagtgttcgctggctacatc	10	10	1	0	rs6684816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120378657G>A								REG4 (24374 upstream) : ADAM30 (57498 downstream)																							CTTTGGAATTGGAGTGTTCGC	0.443													g|||	111	0.0221645	0.0756	0.0086	5008	,	,		21408	0.0		0.004	False		,,,				2504	0.001				p.S363S		Atlas-SNP	.											.	NBPF7	46	.	0			c.C1089T						PASS	.	G		224,3620		5,214,1703	107	105	105		1089	-1	0	1	dbSNP_116	105	45,8253		1,43,4105	no	coding-synonymous	NBPF7	NM_001047980.1		6,257,5808	AA,AG,GG		0.5423,5.8273,2.2155		363/422	120378657	269,11873	1922	4149	6071	SO:0001628	intergenic_variant	343505	exon7			GGAATTGGAGTGT																													1.37:g.120378657G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	202	96	0.475248	NM_001047980		Silent	SNP		37																																																																																				A|0.016;G|0.984	0.016	strong	0	0.443									A	120378657	G	A	120378657	1	1	22	0	1	0	0	0	0	0	0	0	10198	1335	47	2		2	NBPF7	1	120378657	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37464	120378657	128871964	549	5657										
NBPF7	343505	hgsc.bcm.edu	37	chr1	120378702	120378702	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagcaaactttctgttcAactagtgccaagaaagtgcc	9	10	2	2	rs10158823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120378702A>G								REG4 (24419 upstream) : ADAM30 (57453 downstream)																							CTTTCTGTTCAACTAGTGCCA	0.488													a|||	405	0.0808706	0.295	0.0216	5008	,	,		21265	0.0		0.0	False		,,,				2504	0.0				p.V348V		Atlas-SNP	.											.	NBPF7	46	.	0			c.T1044C						PASS	.	A		848,3086		97,654,1216	107	106	107		1044	-0.1	0	1	dbSNP_119	107	21,8319		0,21,4149	no	coding-synonymous	NBPF7	NM_001047980.1		97,675,5365	GG,GA,AA		0.2518,21.5557,7.08		348/422	120378702	869,11405	1967	4170	6137	SO:0001628	intergenic_variant	343505	exon7			CTGTTCAACTAGT																													1.37:g.120378702A>G		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	203	105	0.517241	NM_001047980		Silent	SNP		37																																																																																				A|0.919;G|0.081	0.081	strong	0	0.488									G	120378702	A	G	120378702	1	3	22	0	1	0	0	0	0	0	0	0	10198	117	5	2		2	NBPF7	1	120378702	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45	120378702	128871919	550	5658										
NBPF7	343505	hgsc.bcm.edu	37	chr1	120384162	120384162	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcatctctcccttcccGtaacttctcccttaactgga	7	15	2	0	rs78204967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120384162G>A								REG4 (29879 upstream) : ADAM30 (51993 downstream)																							CTCCCTTCCCGTAACTTCTCC	0.493													g|||	119	0.023762	0.0802	0.0115	5008	,	,		21233	0.0		0.004	False		,,,				2504	0.001				p.R134W		Atlas-SNP	.											NBPF7,NS,carcinoma,0,1	NBPF7	46	1	0			c.C400T						scavenged	.	G	TRP/ARG	282,4124	147.6+/-182.1	8,266,1929	137	154	148		400	-0.1	0	1	dbSNP_131	148	49,8551	29.6+/-80.5	1,47,4252	no	missense	NBPF7	NM_001047980.1	101	9,313,6181	AA,AG,GG		0.5698,6.4004,2.545	probably-damaging	134/422	120384162	331,12675	2203	4300	6503	SO:0001628	intergenic_variant	343505	exon3			CTTCCCGTAACTT																													1.37:g.120384162G>A		Somatic	245	2	0.00816326		WXS	Illumina HiSeq	Phase_I	204	99	0.485294	NM_001047980		Missense_Mutation	SNP		37																																																																																				G|0.983;A|0.017	0.017	strong	0	0.493									A	120384162	G	A	120384162	1	1	22	0	1	0	0	0	0	0	0	0	10198	1144	40	1		1	NBPF7	1	120384162	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5460	120384162	128866459	551	5659										
NBPF7	343505	hgsc.bcm.edu	37	chr1	120386922	120386922	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgagcctatagatcttActgtatttgttctgctggtt	10	6	2	2	rs12068863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120386922A>T								REG4 (32639 upstream) : ADAM30 (49233 downstream)																							TATAGATCTTACTGTATTTGT	0.428											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	a|||	371	0.0740815	0.27	0.0202	5008	,	,		20192	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	NBPF7	46	.	0			c.235+2T>A						PASS	.	A		829,3303		91,647,1328	78	86	83			0.7	0	1	dbSNP_120	83	22,8414		0,22,4196	no	splice-5	NBPF7	NM_001047980.1		91,669,5524	TT,TA,AA		0.2608,20.0629,6.7712			120386922	851,11717	2066	4218	6284	SO:0001628	intergenic_variant	343505	exon2			GATCTTACTGTAT																													1.37:g.120386922A>T		Somatic	83	0	0	1503	WXS	Illumina HiSeq	Phase_I	109	40	0.366972	NM_001047980		Splice_Site	SNP		37																																																																																				A|0.957;T|0.043	0.043	strong	0	0.428									T	120386922	A	T	120386922	1	4	22	0	1	0	0	0	0	0	0	0	10198	405	14	5		5	NBPF7	1	120386922	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2760	120386922	128863699	552	5660										
ADAM30	11085	hgsc.bcm.edu	37	chr1	120436751	120436751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcctgtacagtttttgTtttagattcttcctgttcag	6	8	3	1	rs35273427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120436751T>C	ENST00000369400.1	-	1	2367	c.2209A>G	c.(2209-2211)Aca>Gca	p.T737A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	737	5 X 9 AA approximate repeats.		T -> A (in dbSNP:rs35273427).		binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACAGTTTTTGTTTTAGATTCT	0.368													t|||	812	0.162141	0.3306	0.0865	5008	,	,		17633	0.0407		0.0606	False		,,,				2504	0.2178				p.T737A		Atlas-SNP	.											.	ADAM30	88	.	0			c.A2209G						PASS	.	T	ALA/THR	1222,3184	422.1+/-339.6	178,866,1159	196	205	202		2209	-1.9	0	1	dbSNP_126	202	495,8105	142.5+/-198.7	22,451,3827	yes	missense	ADAM30	NM_021794.3	58	200,1317,4986	CC,CT,TT		5.7558,27.7349,13.2016	benign	737/791	120436751	1717,11289	2203	4300	6503	SO:0001583	missense	11085	exon1			TTTTTGTTTTAGA	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2209A>G	1.37:g.120436751T>C	ENSP00000358407:p.Thr737Ala	Somatic	350	1	0.00285714		WXS	Illumina HiSeq	Phase_I	384	213	0.554688	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	260	0.11904761904761904	175	0.3556910569105691	30	0.08287292817679558	12	0.02097902097902098	43	0.05672823218997362	T	0.064	-1.217896	0.01542	0.277349	0.057558	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01126	5.3	2.55	-1.93	0.07594	.	2.259650	0.03871	U	0.275554	T	0.00271	0.0008	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45293	-0.9271	9	0.23891	T	0.37	.	7.691	0.28567	0.0:0.5507:0.0:0.4493	rs35273427;rs61752483	737	Q9UKF2	ADA30_HUMAN	A	737	ENSP00000358407:T737A	ENSP00000358407:T737A	T	-	1	0	ADAM30	120238274	0.330000	0.24705	0.000000	0.03702	0.009000	0.06853	-0.024000	0.12435	-0.586000	0.05898	0.482000	0.46254	ACA	T|0.878;C|0.122	0.122	strong		0.368	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		C	120436751	T	C	120436751	3	2	22	1	0	0	0	0	1	0	0	0	248	1725	60	2	167	2	ADAM30	1	120436751	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49829	120436751	128813870	553	5661										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120480583	120480583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactctgcttttttctgaacGcaagtacctttgtttttaca	6	9	2	1	rs7543643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:120480583G>A	ENST00000256646.2	-	20	3453	c.3234C>T	c.(3232-3234)tgC>tgT	p.C1078C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1078	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTCTGAACGCAAGTACCTT	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				G|||	356	0.0710863	0.2458	0.0202	5008	,	,		18636	0.002		0.001	False		,,,				2504	0.0143				p.C1078C		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	348	.	0			c.C3234T						PASS	.	G	,	906,3500	350.5+/-310.9	88,730,1385	133	122	125		3234,3234	-1.8	0	1	dbSNP_116	125	24,8576	16.6+/-54.9	0,24,4276	yes	coding-synonymous,coding-synonymous	NOTCH2	NM_001200001.1,NM_024408.3	,	88,754,5661	AA,AG,GG		0.2791,20.5629,7.1505	,	1078/1236,1078/2472	120480583	930,12076	2203	4300	6503	SO:0001819	synonymous_variant	4853	exon20	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	CTGAACGCAAGTA	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3234C>T	1.37:g.120480583G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	123	62	0.504065	NM_001200001	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																			G|0.925;A|0.075	0.075	strong		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120480583	G	A	120480583	2	1	22	1	0	0	0	0	0	0	0	1	10548	1079	38	1		1	NOTCH2	1	120480583	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43832	120480583	128770038	554	5662										
PPIAL4G	644591	hgsc.bcm.edu	37	chr1	143767730	143767730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatcctttctctccagtgCtcagagcacgaaagttttct	7	11	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:143767730C>T	ENST00000419275.1	-	1	151	c.119G>A	c.(118-120)aGc>aAc	p.S40N		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	40	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCTCCAGTGCTCAGAGCACG	0.473																																					p.S40N		Atlas-SNP	.											.	PPIAL4G	22	.	0			c.G119A						PASS	.						84	81	82					1																	143767730		1568	3562	5130	SO:0001583	missense	644591	exon1			CCAGTGCTCAGAG		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.119G>A	1.37:g.143767730C>T	ENSP00000393845:p.Ser40Asn	Somatic	1116	0	0		WXS	Illumina HiSeq	Phase_I	1225	155	0.126531	NM_001123068	A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	14.94	2.685463	0.47991	.	.	ENSG00000236334	ENST00000419275	T	0.44482	0.92	0.523	-0.795	0.10915	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.235838	0.42682	U	0.000663	T	0.16342	0.0393	L	0.49571	1.57	0.23010	N	0.99844	B	0.22480	0.07	B	0.35114	0.196	T	0.35475	-0.9787	10	0.35671	T	0.21	.	4.7838	0.13215	0.0:0.7163:0.0:0.2837	.	40	A2BFH1	PAL4G_HUMAN	N	40	ENSP00000393845:S40N	ENSP00000393845:S40N	S	-	2	0	PPIAL4G	142559253	1.000000	0.71417	0.814000	0.32528	0.857000	0.48899	2.074000	0.41529	-0.252000	0.09528	0.403000	0.27427	AGC	.	.	none		0.473	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		T	143767730	C	T	143767730	3	4	22	1	0	0	0	0	1	0	0	0	12318	797	28	2	379	2	PPIAL4G	1	143767730	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23287147	143767730	105482891	555	5663										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144852477	144852477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacaaggctggagtacatGgcagagcccttagggatttc	13	9	1	1	rs148370554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144852477G>A	ENST00000369354.3	-	44	7211	c.7022C>T	c.(7021-7023)cCa>cTa	p.P2341L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P2426L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P2477L|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P2235L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2341					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGAGTACATGGCAGAGCCCT	0.512			T	PDGFRB	MPD								.|||	165	0.0329473	0.1203	0.0072	5008	,	,		45392	0.0		0.001	False		,,,				2504	0.0				p.P2341L		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C7022T						PASS	.						50	49	49					1																	144852477		2203	4293	6496	SO:0001583	missense	9659	exon44			GTACATGGCAGAG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.7022C>T	1.37:g.144852477G>A	ENSP00000358360:p.Pro2341Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	118	6	0.0508475	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	4.717	0.133299	0.09032	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000530740;ENST00000369359	T;T;T;T	0.01787	4.64;4.74;4.74;4.75	4.47	0.476	0.16779	.	.	.	.	.	T	0.00845	0.0028	M	0.64404	1.975	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.08055	0.0;0.003	T	0.40961	-0.9535	9	0.54805	T	0.06	.	7.4413	0.27185	0.3516:0.0:0.6483:0.0	.	2235;2341	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	L	2235;2341;2426;2477	ENSP00000327209:P2235L;ENSP00000358360:P2341L;ENSP00000435654:P2426L;ENSP00000358366:P2477L	ENSP00000327209:P2235L	P	-	2	0	PDE4DIP	143563834	0.000000	0.05858	0.001000	0.08648	0.174000	0.22865	0.216000	0.17585	-0.094000	0.12374	-0.274000	0.10170	CCA	.	.	weak		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144852477	G	A	144852477	3	1	22	1	0	0	0	0	1	0	0	0	11643	1348	47	2	22	2	PDE4DIP	1	144852477	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1084747	144852477	104398144	556	5664										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144854608	144854608	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaggagtcgctcctgttTggatactttggttctcagtt	11	8	1	1	rs2798855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144854608T>G	ENST00000369354.3	-	42	7051	c.6862A>C	c.(6862-6864)Aaa>Caa	p.K2288Q	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K2373Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K2424Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K2288Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K2182Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2288					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCTCCTGTTTGGATACTTTG	0.502			T	PDGFRB	MPD																																p.K2288Q		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.A6862C						PASS	.	T	GLN/LYS,GLN/LYS,GLN/LYS	5,4401		0,5,2198	271	230	244		6862,6862,6544	-6.1	0	1	dbSNP_100	244	1,8599		0,1,4299	yes	missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1	53,53,53	0,6,6497	GG,GT,TT		0.0116,0.1135,0.0461	benign,benign,benign	2288/2347,2288/2363,2182/2241	144854608	6,13000	2203	4300	6503	SO:0001583	missense	9659	exon42			CCTGTTTGGATAC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6862A>C	1.37:g.144854608T>G	ENSP00000358360:p.Lys2288Gln	Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	394	61	0.154822	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	3.087	-0.187787	0.06299	0.001135	1.16E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01538	4.79;4.91;4.93;4.89;4.9	4.0	-6.13	0.02118	.	.	.	.	.	T	0.00328	0.0010	N	0.16066	0.365	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.44605	-0.9317	9	0.19147	T	0.46	.	7.3378	0.26619	0.0:0.3913:0.4391:0.1695	rs2798855;rs4067565	2182;2288	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	Q	2182;2288;2288;2373;2424	ENSP00000327209:K2182Q;ENSP00000358360:K2288Q;ENSP00000358363:K2288Q;ENSP00000435654:K2373Q;ENSP00000358366:K2424Q	ENSP00000327209:K2182Q	K	-	1	0	PDE4DIP	143565965	0.499000	0.26083	0.000000	0.03702	0.211000	0.24417	0.536000	0.23129	-1.025000	0.03334	-1.007000	0.02485	AAA	T|0.980;G|0.020	0.020	strong		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144854608	T	G	144854608	3	3	22	1	0	0	0	0	1	0	0	0	11643	1821	63	5	190	5	PDE4DIP	1	144854608	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2131	144854608	104396013	557	5665										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144856852	144856852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaggccagggaagctgcaCgctgatctcacaagagacac	11	12	2	2	rs377520030		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144856852C>T	ENST00000369354.3	-	40	6822	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.A2347A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD																																p.A2211A		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000369356,NS,carcinoma,-1,3	PDE4DIP	817	3	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G6633A						PASS	.						39	31	34					1																	144856852		2199	4286	6485	SO:0001819	synonymous_variant	9659	exon40			GCTGCACGCTGAT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6633G>A	1.37:g.144856852C>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	222	51	0.22973	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	5.637	0.302253	0.10678	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-1.01	0.10169	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.32646	N	0.519982	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	1.5392	0.02551	0.1278:0.2204:0.3685:0.2833	.	.	.	.	H	288	.	.	R	-	2	0	PDE4DIP	143568209	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-1.120000	0.03273	0.239000	0.21243	-0.693000	0.03709	CGT	.	.	none		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144856852	C	T	144856852	2	4	22	1	0	0	0	0	0	0	0	1	11643	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2244	144856852	104393769	558	5666										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144863320	144863320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagaagaacacatacctTtcagccccttcttggaattg	10	10	2	2	rs139822181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144863320T>C	ENST00000369354.3	-	37	6272	c.6083A>G	c.(6082-6084)aAa>aGa	p.K2028R	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K2113R|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K2164R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K2028R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1922R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2028					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACACATACCTTTCAGCCCCTT	0.488			T	PDGFRB	MPD																																p.K2028R		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.A6083G						PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS	158,4248	83.9+/-122.4	1,156,2046	153	151	152		5765,6083,6083	0.8	1	1	dbSNP_134	152	92,8506	30.7+/-82.3	0,92,4207	no	missense,missense,missense	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	26,26,26	1,248,6253	CC,CT,TT		1.07,3.586,1.9225	possibly-damaging,possibly-damaging,possibly-damaging	1922/2241,2028/2363,2028/2347	144863320	250,12754	2203	4299	6502	SO:0001583	missense	9659	exon37			ATACCTTTCAGCC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6083A>G	1.37:g.144863320T>C	ENSP00000358360:p.Lys2028Arg	Somatic	463	0	0		WXS	Illumina HiSeq	Phase_I	419	132	0.315036	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	103|103	0.04716117216117216|0.04716117216117216	36|36	0.07317073170731707|0.07317073170731707	6|6	0.016574585635359115|0.016574585635359115	47|47	0.08216783216783216|0.08216783216783216	14|14	0.018469656992084433|0.018469656992084433	T|T	15.03|15.03	2.712690|2.712690	0.48517|0.48517	0.03586|0.03586	0.0107|0.0107	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T|T;T;T;T;T	0.43688|0.01933	0.94|4.55;4.63;4.63;4.66;4.64	4.83|4.83	0.789|0.789	0.18607|0.18607	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999999|0.999999	.|B;D	.|0.71674	.|0.001;0.998	.|B;D	.|0.75484	.|0.003;0.986	T|T	0.48647|0.48647	-0.9017|-0.9017	7|9	0.02654|0.66056	T|D	1|0.02	.|.	6.37|6.37	0.21475|0.21475	0.0:0.0924:0.4573:0.4503|0.0:0.0924:0.4573:0.4503	.|.	.|1922;2028	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	E|R	185|1922;2028;2028;2113;2164	ENSP00000432498:K185E|ENSP00000327209:K1922R;ENSP00000358360:K2028R;ENSP00000358363:K2028R;ENSP00000435654:K2113R;ENSP00000358366:K2164R	ENSP00000432498:K185E|ENSP00000327209:K1922R	K|K	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143574677|143574677	0.972000|0.972000	0.33761|0.33761	0.982000|0.982000	0.44146|0.44146	0.844000|0.844000	0.47949|0.47949	1.578000|1.578000	0.36525|0.36525	0.276000|0.276000	0.22118|0.22118	-0.636000|-0.636000	0.03981|0.03981	AAG|AAA	T|0.967;C|0.033	0.033	strong		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144863320	T	C	144863320	3	2	22	1	0	0	0	0	1	0	0	0	11643	1841	64	2	989	2	PDE4DIP	1	144863320	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6468	144863320	104387301	559	5667										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144871829	144871829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctggatggagctgagggCaatggtgcctgaggaaggct	18	6	0	2	rs111761861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144871829C>T	ENST00000369354.3	-	32	5322	c.5133G>A	c.(5131-5133)ttG>ttA	p.L1711L	PDE4DIP_ENST00000530740.1_Silent_p.L1796L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.L1847L|PDE4DIP_ENST00000369356.4_Silent_p.L1711L|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1711					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGCTGAGGGCAATGGTGCCT	0.527			T	PDGFRB	MPD								.|||	214	0.0427316	0.0605	0.0144	5008	,	,		40094	0.0734		0.0179	False		,,,				2504	0.0327				p.L1711L		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.G5133A						PASS	.	C	,,	199,4207	112.5+/-150.6	0,199,2004	99	103	101		,5133,5133	4.2	1	1	dbSNP_132	101	137,8455	63.9+/-126.0	0,137,4159	no	intron,coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,336,6163	TT,TC,CC		1.5945,4.5166,2.585	,,	,1711/2363,1711/2347	144871829	336,12662	2203	4296	6499	SO:0001819	synonymous_variant	9659	exon32			TGAGGGCAATGGT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5133G>A	1.37:g.144871829C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	135	26	0.192593	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			C|0.969;T|0.031	0.031	strong		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144871829	C	T	144871829	2	4	22	1	0	0	0	0	0	0	0	1	11643	709	25	2		2	PDE4DIP	1	144871829	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8509	144871829	104378792	560	5668										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144873983	144873983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatgcactggttgatgaTggtttagaagacaacacagc	12	6	0	5	rs148165371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144873983T>C	ENST00000369354.3	-	31	5163	c.4974A>G	c.(4972-4974)ccA>ccG	p.P1658P	PDE4DIP_ENST00000369356.4_Silent_p.P1658P|PDE4DIP_ENST00000313382.9_Silent_p.P1614P|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.P1794P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1658					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTTGATGATGGTTTAGAAG	0.473			T	PDGFRB	MPD								.|||	3	0.000599042	0.0023	0.0	5008	,	,		42684	0.0		0.0	False		,,,				2504	0.0				p.P1658P		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.A4974G						PASS	.	T	,,	11,4395	17.9+/-39.9	0,11,2192	417	423	421		4842,4974,4974	5.3	1	1	dbSNP_134	421	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,11,6489	CC,CT,TT		0.0,0.2497,0.0846	,,	1614/2241,1658/2363,1658/2347	144873983	11,12989	2203	4297	6500	SO:0001819	synonymous_variant	9659	exon31			TGATGATGGTTTA	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4974A>G	1.37:g.144873983T>C		Somatic	355	0	0		WXS	Illumina HiSeq	Phase_I	418	111	0.26555	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			T|0.999;C|0.001	0.001	strong		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144873983	T	C	144873983	2	2	22	1	0	0	0	0	0	0	0	1	11643	1451	51	2		2	PDE4DIP	1	144873983	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2154	144873983	104376638	561	5669										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144879485	144879485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcagaggaactagccagtGttgagccccggcgtccctgc	12	14	1	2	rs113467089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144879485G>C	ENST00000369354.3	-	27	4154	c.3965C>G	c.(3964-3966)aCa>aGa	p.T1322R	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1458R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1458R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1322R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T1278R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1322					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTAGCCAGTGTTGAGCCCCG	0.522			T	PDGFRB	MPD								.|||	215	0.0429313	0.0613	0.0144	5008	,	,		35647	0.0734		0.0179	False		,,,				2504	0.0327				p.T1322R		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C3965G						PASS	.	G	ARG/THR,ARG/THR,ARG/THR	227,4179	123.7+/-161.0	0,227,1976	114	129	124		3965,3965,3833	1.1	0	1	dbSNP_132	124	171,8421	71.6+/-134.2	0,171,4125	yes	missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1	71,71,71	0,398,6101	CC,CG,GG		1.9902,5.1521,3.062	benign,benign,benign	1322/2347,1322/2363,1278/2241	144879485	398,12600	2203	4296	6499	SO:0001583	missense	9659	exon27			GCCAGTGTTGAGC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3965C>G	1.37:g.144879485G>C	ENSP00000358360:p.Thr1322Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	92	21	0.228261	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	105	0.04807692307692308	36	0.07317073170731707	6	0.016574585635359115	49	0.08566433566433566	14	0.018469656992084433	G	10.67	1.416543	0.25552	0.051521	0.019902	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01705	4.68;4.74;4.74;4.76;4.75	5.09	1.14	0.20703	.	.	.	.	.	T	0.00552	0.0018	L	0.36672	1.1	0.09310	N	1	B;B	0.29341	0.144;0.242	B;B	0.31614	0.061;0.133	T	0.43621	-0.9380	9	0.17832	T	0.49	.	7.3415	0.26640	0.4627:0.0:0.5373:0.0	.	1278;1322	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1278;1322;1322;1458;1458	ENSP00000327209:T1278R;ENSP00000358360:T1322R;ENSP00000358363:T1322R;ENSP00000435654:T1458R;ENSP00000358366:T1458R	ENSP00000327209:T1278R	T	-	2	0	PDE4DIP	143590842	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.450000	0.21762	0.058000	0.16222	-0.810000	0.03169	ACA	G|0.665;C|0.335	0.335	strong		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144879485	G	C	144879485	3	2	22	1	0	0	0	0	1	0	0	0	11643	1377	48	4	3147	4	PDE4DIP	1	144879485	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5502	144879485	104371136	562	5670										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144952255	144952255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggcttgacctggtctcctGgtacatcttcccagtttttg	10	12	2	1	rs148545794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:144952255G>C	ENST00000369354.3	-	4	653	c.464C>G	c.(463-465)cCa>cGa	p.P155R	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P155R|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P292R|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.P155R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.P155R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P292R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P292R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.P155R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P221R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	155					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGTCTCCTGGTACATCTTC	0.547			T	PDGFRB	MPD																																p.P292R		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C875G						PASS	.						56	59	58					1																	144952255		2203	4296	6499	SO:0001583	missense	9659	exon7			TCTCCTGGTACAT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.464C>G	1.37:g.144952255G>C	ENSP00000358360:p.Pro155Arg	Somatic	1436	0	0		WXS	Illumina HiSeq	Phase_I	1786	461	0.258119	NM_022359	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933328	0.34096	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.35421	4.7;4.77;4.77;4.79;4.78;3.8;3.81;2.1;2.1;3.05;1.31	4.54	-0.00175	0.14033	.	.	.	.	.	T	0.11367	0.0277	L	0.35723	1.085	0.09310	N	1	B;B;B	0.25351	0.0;0.124;0.002	B;B;B	0.24848	0.003;0.056;0.007	T	0.33317	-0.9873	9	0.72032	D	0.01	.	7.3155	0.26498	0.0:0.1574:0.3594:0.4832	.	155;221;155	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	R	221;155;155;292;292;155;155;221;158;155;292;78	ENSP00000327209:P221R;ENSP00000358360:P155R;ENSP00000358363:P155R;ENSP00000435654:P292R;ENSP00000358366:P292R;ENSP00000358357:P155R;ENSP00000358355:P155R;ENSP00000435920:P158R;ENSP00000358353:P155R;ENSP00000358354:P292R;ENSP00000437202:P78R	ENSP00000327209:P221R	P	-	2	0	PDE4DIP	143663612	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	0.166000	0.16583	-0.161000	0.10983	0.561000	0.74099	CCA	.	.	weak		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144952255	G	C	144952255	3	2	22	1	0	0	0	0	1	0	0	0	11643	1348	47	4	7883	4	PDE4DIP	1	144952255	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72770	144952255	104298366	563	5671										
NOTCH2NL	388677	hgsc.bcm.edu	37	chr1	145281413	145281413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcctgtctcatccctgtGcaaatggaagtacctgtacc	8	14	1	0	rs76765512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:145281413G>A	ENST00000369340.3	+	5	787	c.343G>A	c.(343-345)Gca>Aca	p.A115T	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.A115T|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.A115T|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.A115T			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	115	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCATCCCTGTGCAAATGGAAG	0.502																																					p.A115T		Atlas-SNP	.											.	NOTCH2NL	100	.	0			c.G343A						PASS	.	G	THR/ALA	228,4178	115.4+/-153.4	0,228,1975	339	343	342		343	2.9	1	1	dbSNP_131	342	2,8596	1.2+/-3.3	0,2,4297	no	missense	NOTCH2NL	NM_203458.3	58	0,230,6272	AA,AG,GG		0.0233,5.1748,1.7687	possibly-damaging	115/237	145281413	230,12774	2203	4299	6502	SO:0001583	missense	388677	exon4			CCCTGTGCAAATG		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.343G>A	1.37:g.145281413G>A	ENSP00000358346:p.Ala115Thr	Somatic	1344	2	0.0014881		WXS	Illumina HiSeq	Phase_I	1480	388	0.262162	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233634	0.79688	0.051748	2.33E-4	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.87491	-2.26;-2.26;-2.26	2.87	2.87	0.33458	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.76835	0.4043	L	0.37507	1.11	0.32769	N	0.504048	P;P	0.49783	0.825;0.928	B;P	0.48571	0.342;0.582	T	0.70378	-0.4888	9	0.29301	T	0.29	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	115;115	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	T	115	ENSP00000354929:A115T;ENSP00000344557:A115T;ENSP00000358346:A115T	ENSP00000344557:A115T	A	+	1	0	NOTCH2NL	143992770	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.645000	0.83430	1.601000	0.50113	0.400000	0.26472	GCA	G|0.980;A|0.020	0.020	strong		0.502	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		A	145281413	G	A	145281413	3	1	22	1	0	0	0	0	1	0	0	0	10549	1319	46	2	353	2	NOTCH2NL	1	145281413	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	329158	145281413	103969208	564	5672										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145296510	145296510	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcccaggggcaggacctCcaagaacagctggctgaggg	15	11	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:145296510C>G	ENST00000342960.5	+	3	467	c.432C>G	c.(430-432)ctC>ctG	p.L144L	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	144						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGCAGGACCTCCAAGAACAGC	0.592																																					p.L144L		Atlas-SNP	.											NBPF10,right_lower_lobe,carcinoma,0,1	NBPF10	221	1	0			c.C432G						scavenged	.																																			SO:0001819	synonymous_variant	100132406	exon3			GGACCTCCAAGAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.432C>G	1.37:g.145296510C>G		Somatic	323	3	0.00928793		WXS	Illumina HiSeq	Phase_I	391	18	0.0460358	NM_001039703	Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	CCDS53355.1																																																																																			.	.	none		0.592	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		G	145296510	C	G	145296510	2	3	22	1	0	0	0	0	0	0	0	1	10193	842	30	4		4	NBPF10	1	145296510	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15097	145296510	103954111	565	5673										
ANKRD35	148741	hgsc.bcm.edu	37	chr1	145561594	145561594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagaagaacaggggccaCcccagagcccagcgtctgag	12	14	1	4	rs6670984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:145561594C>T	ENST00000355594.4	+	10	1369	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	428			P -> S (in dbSNP:rs6670984). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGGGGCCACCCCAGAGCCC	0.547													C|||	2828	0.564696	0.5794	0.5043	5008	,	,		18882	0.7252		0.3797	False		,,,				2504	0.6125				p.P428S	Melanoma(9;127 754 22988 51047)	Atlas-SNP	.											.	ANKRD35	96	.	0			c.C1282T						PASS	.	C	SER/PRO	2326,2080	586.9+/-386.6	613,1100,490	60	71	67		1282	-3.1	0	1	dbSNP_116	67	3163,5437	473.4+/-368.6	572,2019,1709	yes	missense	ANKRD35	NM_144698.3	74	1185,3119,2199	TT,TC,CC		36.7791,47.2084,42.2036	benign	428/1002	145561594	5489,7517	2203	4300	6503	SO:0001583	missense	148741	exon10			GGGCCACCCCAGA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1282C>T	1.37:g.145561594C>T	ENSP00000347802:p.Pro428Ser	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	1154	0.5283882783882784	275	0.5589430894308943	169	0.46685082872928174	419	0.7325174825174825	291	0.3839050131926121	C	2.083	-0.410284	0.04799	0.527916	0.367791	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.64991	-0.13	5.21	-3.07	0.05363	.	1.124390	0.06867	N	0.800111	T	0.21674	0.0522	L	0.41027	1.25	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.05273	-1.0895	9	0.08837	T	0.75	0.4115	6.7985	0.23738	0.0:0.4134:0.1204:0.4661	rs6670984;rs57708309;rs6670984	428	Q8N283	ANR35_HUMAN	S	337;428	ENSP00000347802:P428S	ENSP00000347802:P428S	P	+	1	0	ANKRD35	144272951	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.280000	0.18790	-0.485000	0.06754	-0.140000	0.14226	CCC	C|0.526;T|0.474	0.474	strong		0.547	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145561594	C	T	145561594	3	4	22	1	0	0	0	0	1	0	0	0	664	507	18	2	1320	2	ANKRD35	1	145561594	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	265084	145561594	103689027	566	5674										
CHD1L	9557	hgsc.bcm.edu	37	chr1	146757092	146757092	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacagaagaaaagacaagAagcagctgccaagagaagga	12	7	0	6	rs13374920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:146757092A>C	ENST00000369258.4	+	17	1966	c.1946A>C	c.(1945-1947)gAa>gCa	p.E649A	CHD1L_ENST00000431239.1_Missense_Mutation_p.E555A|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.E368A|CHD1L_ENST00000369259.3_Missense_Mutation_p.E445A	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	649			E -> A (in dbSNP:rs13374920).		ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAAGACAAGAAGCAGCTGCC	0.493													A|||	114	0.0227636	0.0825	0.0058	5008	,	,		19571	0.0		0.0	False		,,,				2504	0.001				p.E649A		Atlas-SNP	.											CHD1L,right_upper_lobe,carcinoma,+1,1	CHD1L	72	1	0			c.A1946C						PASS	.	A	ALA/GLU	307,4099	165.8+/-197.2	8,291,1904	148	146	147		1946	3.4	1	1	dbSNP_121	147	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CHD1L	NM_004284.3	107	8,296,6199	CC,CA,AA		0.0581,6.9678,2.3989	possibly-damaging	649/898	146757092	312,12694	2203	4300	6503	SO:0001583	missense	9557	exon17			GACAAGAAGCAGC	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1946A>C	1.37:g.146757092A>C	ENSP00000358262:p.Glu649Ala	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	183	95	0.519126	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	47	0.02152014652014652	46	0.09349593495934959	1	0.0027624309392265192	0	0.0	0	0.0	A	8.801	0.932825	0.18131	0.069678	5.81E-4	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89810	-2.57;-1.43;-2.45;-1.55	5.78	3.4	0.38934	.	0.337634	0.31809	N	0.007040	T	0.76765	0.4033	L	0.43152	1.355	0.44098	D	0.996861	P;B;B	0.39181	0.663;0.419;0.339	B;B;B	0.38921	0.285;0.151;0.04	T	0.74481	-0.3651	10	0.49607	T	0.09	.	10.1412	0.42736	0.6754:0.3246:0.0:0.0	rs13374920;rs52828089;rs13374920	555;445;649	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	A	555;445;649;368	ENSP00000389031:E555A;ENSP00000358263:E445A;ENSP00000358262:E649A;ENSP00000355100:E368A	ENSP00000355100:E368A	E	+	2	0	CHD1L	145223716	1.000000	0.71417	0.989000	0.46669	0.006000	0.05464	2.163000	0.42377	0.418000	0.25898	-0.446000	0.05623	GAA	A|0.976;C|0.024	0.024	strong		0.493	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		C	146757092	A	C	146757092	3	2	22	1	0	0	0	0	1	0	0	0	3324	246	9	5	2012	5	CHD1L	1	146757092	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1195498	146757092	102493529	567	5675										
CHD1L	9557	hgsc.bcm.edu	37	chr1	146763171	146763171	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttacctcagacctgagTttgggaggtgtccttttatt	10	7	1	2	rs61756300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:146763171T>A	ENST00000369258.4	+	20	2348	c.2328T>A	c.(2326-2328)agT>agA	p.S776R	CHD1L_ENST00000431239.1_Missense_Mutation_p.S682R|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.S495R|CHD1L_ENST00000369259.3_Missense_Mutation_p.S572R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	776	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGACCTGAGTTTGGGAGGTG	0.403													T|||	101	0.0201677	0.0749	0.0029	5008	,	,		20473	0.0		0.0	False		,,,				2504	0.0				p.S776R		Atlas-SNP	.											.	CHD1L	72	.	0			c.T2328A						PASS	.	T	ARG/SER	265,4141	152.5+/-186.2	6,253,1944	196	162	173		2328	4.6	1	1	dbSNP_129	173	6,8594	4.3+/-15.6	0,6,4294	yes	missense	CHD1L	NM_004284.3	110	6,259,6238	AA,AT,TT		0.0698,6.0145,2.0837	benign	776/898	146763171	271,12735	2203	4300	6503	SO:0001583	missense	9557	exon20			CCTGAGTTTGGGA	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2328T>A	1.37:g.146763171T>A	ENSP00000358262:p.Ser776Arg	Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	378	182	0.481481	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	30	0.013736263736263736	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	0	0.0	T	12.55	1.970529	0.34754	0.060145	6.98E-4	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.82	4.63	0.57726	Appr-1-p processing (1);	0.600804	0.20767	N	0.086044	T	0.11836	0.0288	N	0.25647	0.755	0.26362	N	0.977023	P;B;B	0.40476	0.718;0.063;0.032	B;B;B	0.35470	0.203;0.055;0.021	T	0.04650	-1.0936	10	0.23302	T	0.38	.	9.3476	0.38118	0.0:0.0:0.1803:0.8197	rs61756300	682;572;776	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	R	682;572;776;495	ENSP00000389031:S682R;ENSP00000358263:S572R;ENSP00000358262:S776R;ENSP00000355100:S495R	ENSP00000355100:S495R	S	+	3	2	CHD1L	145229795	0.305000	0.24481	1.000000	0.80357	0.902000	0.53008	0.451000	0.21779	2.223000	0.72356	0.454000	0.30748	AGT	T|0.984;A|0.016	0.016	strong		0.403	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		A	146763171	T	A	146763171	3	1	22	1	0	0	0	0	1	0	0	0	3324	1722	60	5	2406	5	CHD1L	1	146763171	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6079	146763171	102487450	568	5676										
OTUD7B	56957	hgsc.bcm.edu	37	chr1	149916584	149916584	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcagacacaggcccatcCccagctgcctcctccttgcc	6	20	1	1	rs200362140	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:149916584C>G	ENST00000369135.4	-	12	1998	c.1704G>C	c.(1702-1704)ggG>ggC	p.G568G		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	568					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGCCCATCCCCAGCTGCCT	0.572													C|||	10	0.00199681	0.0076	0.0	5008	,	,		16047	0.0		0.0	False		,,,				2504	0.0				p.G568G		Atlas-SNP	.											.	OTUD7B	76	.	0			c.G1704C						PASS	.	C		16,4136		0,16,2060	73	82	79		1704	0.7	1	1		79	0,8438		0,0,4219	no	coding-synonymous	OTUD7B	NM_020205.2		0,16,6279	GG,GC,CC		0.0,0.3854,0.1271		568/844	149916584	16,12574	2076	4219	6295	SO:0001819	synonymous_variant	56957	exon12			CCCATCCCCAGCT	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1704G>C	1.37:g.149916584C>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	70	39	0.557143	NM_020205	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																			C|0.999;G|0.001	0.001	strong		0.572	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		G	149916584	C	G	149916584	2	3	22	1	0	0	0	0	0	0	0	1	11319	610	22	4		4	OTUD7B	1	149916584	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3153413	149916584	99334037	569	5677										
MRPS21	54460	hgsc.bcm.edu	37	chr1	150280550	150280550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatgagaagccatgccgccGgcgacagagggaaagctatg	14	9	0	2	rs4845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150280550G>A	ENST00000369084.5	+	2	599	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.R51Q	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	51			R -> Q (in dbSNP:rs4845).		translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATGCCGCCGGCGACAGAGG	0.493													G|||	440	0.0878594	0.2337	0.0519	5008	,	,		17084	0.001		0.0706	False		,,,				2504	0.0235				p.R51Q		Atlas-SNP	.											.	MRPS21	8	.	0			c.G152A						PASS	.	G	GLN/ARG,GLN/ARG	845,3561	331.2+/-301.9	72,701,1430	49	46	47		152,152	4.9	1	1	dbSNP_52	47	767,7833	182.0+/-230.6	37,693,3570	no	missense,missense	MRPS21	NM_018997.2,NM_031901.4	43,43	109,1394,5000	AA,AG,GG		8.9186,19.1784,12.3943	benign,benign	51/88,51/88	150280550	1612,11394	2203	4300	6503	SO:0001583	missense	54460	exon2			GCCGCCGGCGACA	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"Mitochondrial ribosomal proteins / small subunits"	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.152G>A	1.37:g.150280550G>A	ENSP00000358080:p.Arg51Gln	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	208	112	0.538462	NM_018997	Q5TB11|Q9BST6	Missense_Mutation	SNP	ENST00000369084.5	37	CCDS950.1	197	0.0902014652014652	121	0.2459349593495935	15	0.04143646408839779	1	0.0017482517482517483	60	0.079155672823219	G	11.58	1.681805	0.29872	0.191784	0.089186	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.32272	1.46;1.46	4.94	4.94	0.65067	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.44985	P	0.0019940000000000513	B	0.14805	0.011	B	0.15052	0.012	T	0.22977	-1.0201	7	0.07990	T	0.79	.	9.1038	0.36685	0.1625:0.0:0.8375:0.0	rs4845;rs1050856;rs3191211;rs4845	51	P82921	RT21_HUMAN	Q	51	ENSP00000312395:R51Q;ENSP00000358080:R51Q	ENSP00000312395:R51Q	R	+	2	0	MRPS21	148547174	0.084000	0.21492	0.989000	0.46669	0.988000	0.76386	1.483000	0.35497	2.572000	0.86782	0.655000	0.94253	CGG	G|0.888;A|0.112	0.112	strong		0.493	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		A	150280550	G	A	150280550	3	1	22	1	0	0	0	0	1	0	0	0	9832	1116	39	1	158	1	MRPS21	1	150280550	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	363966	150280550	98970071	570	5678										
TARS2	80222	hgsc.bcm.edu	37	chr1	150470182	150470182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattctaccaggcatatcacAgatacactcgccctcaagcc	6	15	3	1	rs115388015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150470182A>G	ENST00000369064.3	+	10	1231	c.1197A>G	c.(1195-1197)acA>acG	p.T399T	TARS2_ENST00000369054.2_Silent_p.T269T|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Silent_p.T317T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	399					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)	GGCATATCACAGATACACTCG	0.512													A|||	83	0.0165735	0.059	0.0072	5008	,	,		16357	0.0		0.0	False		,,,				2504	0.0				p.T399T		Atlas-SNP	.											.	TARS2	91	.	0			c.A1197G						PASS	.	A		210,4196	128.6+/-165.4	9,192,2002	56	49	51		1197	-0.3	0	1	dbSNP_132	51	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	TARS2	NM_025150.3		9,195,6299	GG,GA,AA		0.0349,4.7662,1.6377		399/719	150470182	213,12793	2203	4300	6503	SO:0001819	synonymous_variant	80222	exon10			TATCACAGATACA	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.1197A>G	1.37:g.150470182A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	28	0.466667	NM_025150	Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	CCDS952.1																																																																																			A|0.981;G|0.019	0.019	strong		0.512	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		G	150470182	A	G	150470182	2	3	22	1	0	0	0	0	0	0	0	1	15557	175	7	3		3	TARS2	1	150470182	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	189632	150470182	98780439	571	5679										
ECM1	1893	hgsc.bcm.edu	37	chr1	150482639	150482639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgccctctctccagcaCcccaatgaacagaaggaagg	10	14	1	2	rs74352693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150482639C>T	ENST00000369047.4	+	5	491	c.366C>T	c.(364-366)caC>caT	p.H122H	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.H149H|ECM1_ENST00000346569.6_Silent_p.H122H	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	122					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCTCCAGCACCCCAATGAAC	0.587													C|||	81	0.0161741	0.0575	0.0072	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0				p.H149H	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											.	ECM1	96	.	0			c.C447T						PASS	.	C	,,	203,4203	126.1+/-163.2	7,189,2007	138	139	139		447,366,366	-1.3	0	1	dbSNP_132	139	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	,,	7,192,6304	TT,TC,CC		0.0349,4.6074,1.5839	,,	149/568,122/541,122/416	150482639	206,12800	2203	4300	6503	SO:0001819	synonymous_variant	1893	exon5			CCAGCACCCCAAT	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.366C>T	1.37:g.150482639C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	CCDS953.1																																																																																			C|0.982;T|0.018	0.018	strong		0.587	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		T	150482639	C	T	150482639	2	4	22	1	0	0	0	0	0	0	0	1	4897	506	18	2		2	ECM1	1	150482639	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12457	150482639	98767982	572	5680										
ECM1	1893	hgsc.bcm.edu	37	chr1	150484004	150484004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaccccactggtgctgcacGcggcagggggaggctcggtt	17	13	0	0	rs11801190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150484004G>A	ENST00000369047.4	+	7	905	c.780G>A	c.(778-780)acG>acA	p.T260T	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.T287T|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	260	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGTGCTGCACGCGGCAGGGGG	0.632													G|||	498	0.0994409	0.2761	0.0548	5008	,	,		17764	0.001		0.0716	False		,,,				2504	0.0225				p.T287T	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											.	ECM1	96	.	0			c.G861A						PASS	.	G	,,	981,3425	366.4+/-317.8	95,791,1317	57	55	56		861,780,	-1.1	0	1	dbSNP_120	56	765,7835	180.9+/-229.7	35,695,3570	no	coding-synonymous,coding-synonymous,intron	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	,,	130,1486,4887	AA,AG,GG		8.8953,22.2651,13.4246	,,	287/568,260/541,	150484004	1746,11260	2203	4300	6503	SO:0001819	synonymous_variant	1893	exon7			CTGCACGCGGCAG	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.780G>A	1.37:g.150484004G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	45	0.478723	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	CCDS953.1																																																																																			G|0.878;A|0.122	0.122	strong		0.632	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		A	150484004	G	A	150484004	2	1	22	1	0	0	0	0	0	0	0	1	4897	1074	38	1		1	ECM1	1	150484004	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1365	150484004	98766617	573	5681										
ECM1	1893	hgsc.bcm.edu	37	chr1	150484016	150484016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcacgcggcagggggaGgctcggttctcctgcttcca	15	13	1	0	rs78194273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150484016G>A	ENST00000369047.4	+	7	917	c.792G>A	c.(790-792)gaG>gaA	p.E264E	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.E291E|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	264	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGGGGAGGCTCGGTTCT	0.632													G|||	82	0.0163738	0.0582	0.0072	5008	,	,		16846	0.0		0.0	False		,,,				2504	0.0				p.E291E	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											.	ECM1	96	.	0			c.G873A						PASS	.	G	,,	207,4199	127.4+/-164.3	7,193,2003	52	50	51		873,792,	4.5	1	1	dbSNP_132	51	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,intron	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	,,	7,196,6300	AA,AG,GG		0.0349,4.6981,1.6146	,,	291/568,264/541,	150484016	210,12796	2203	4300	6503	SO:0001819	synonymous_variant	1893	exon7			GGGGGAGGCTCGG	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.792G>A	1.37:g.150484016G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	99	54	0.545455	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	CCDS953.1																																																																																			G|0.984;A|0.016	0.016	strong		0.632	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		A	150484016	G	A	150484016	2	1	22	1	0	0	0	0	0	0	0	1	4897	991	35	2		2	ECM1	1	150484016	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	150484016	98766605	574	5682										
PRUNE	58497	hgsc.bcm.edu	37	chr1	150997155	150997155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccatcgagccgaaacactGccctccctgccatgtttcag	7	17	1	0	rs56805474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150997155G>A	ENST00000271620.3	+	4	560	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	PRUNE_ENST00000368934.1_5'Flank|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|RNU6-884P_ENST00000363889.1_RNA|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000467771.1_3'UTR	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	135						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGAAACACTGCCCTCCCTGC	0.577											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	156	0.0311502	0.1142	0.0043	5008	,	,		17672	0.0		0.002	False		,,,				2504	0.0				p.C135Y		Atlas-SNP	.											.	PRUNE	40	.	0			c.G404A						PASS	.	G	TYR/CYS	427,3979	208.8+/-229.8	19,389,1795	103	89	94		404	3.8	1	1	dbSNP_129	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PRUNE	NM_021222.1	194	19,391,6093	AA,AG,GG		0.0233,9.6913,3.2985	possibly-damaging	135/454	150997155	429,12577	2203	4300	6503	SO:0001583	missense	58497	exon4			AACACTGCCCTCC	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.404G>A	1.37:g.150997155G>A	ENSP00000271620:p.Cys135Tyr	Somatic	106	0	0	1737	WXS	Illumina HiSeq	Phase_I	100	33	0.33	NM_021222	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	CCDS977.1	58	0.026556776556776556	57	0.11585365853658537	1	0.0027624309392265192	0	0.0	0	0.0	g	8.084	0.773045	0.16051	0.096913	2.33E-4	ENSG00000143363	ENST00000271620;ENST00000302413	T	0.30182	1.54	5.76	3.84	0.44239	Phosphoesterase, RecJ-like (1);	0.361754	0.29362	N	0.012374	T	0.09247	0.0228	N	0.22421	0.69	0.80722	D	1	D	0.53151	0.958	P	0.48334	0.574	T	0.06250	-1.0837	10	0.02654	T	1	.	9.1856	0.37168	0.0892:0.1831:0.7278:0.0	rs56805474	135	Q86TP1	PRUNE_HUMAN	Y	135;68	ENSP00000271620:C135Y	ENSP00000271620:C135Y	C	+	2	0	PRUNE	149263779	0.975000	0.34042	0.998000	0.56505	0.961000	0.63080	2.512000	0.45485	1.436000	0.47453	0.645000	0.84053	TGC	G|0.965;A|0.035	0.035	strong		0.577	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		A	150997155	G	A	150997155	3	1	22	1	0	0	0	0	1	0	0	0	12640	1319	46	2	418	2	PRUNE	1	150997155	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	513139	150997155	98253466	575	5683										
PRUNE	58497	hgsc.bcm.edu	37	chr1	150999737	150999737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgagcagatgctgagaaaAgaccagaagactatctatag	10	7	1	6	rs11204762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:150999737A>G	ENST00000271620.3	+	6	864	c.708A>G	c.(706-708)aaA>aaG	p.K236K	PRUNE_ENST00000368934.1_Silent_p.K54K|PRUNE_ENST00000368937.1_Silent_p.K54K|PRUNE_ENST00000368935.1_Silent_p.K4K|PRUNE_ENST00000368936.1_Silent_p.K54K|PRUNE_ENST00000271619.8_Silent_p.K77K|PRUNE_ENST00000467771.1_3'UTR	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	236						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGAGAAAAGACCAGAAGA	0.498													N|||	1381	0.275759	0.2474	0.1974	5008	,	,		19430	0.4613		0.2107	False		,,,				2504	0.2454				p.K236K		Atlas-SNP	.											.	PRUNE	40	.	0			c.A708G						PASS	.	G		1140,3266		167,806,1230	152	129	137		708	3.6	1	1	dbSNP_120	137	1939,6661		251,1437,2612	no	coding-synonymous	PRUNE	NM_021222.1		418,2243,3842	GG,GA,AA		22.5465,25.8738,23.6737		236/454	150999737	3079,9927	2203	4300	6503	SO:0001819	synonymous_variant	58497	exon6			GAGAAAAGACCAG	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.708A>G	1.37:g.150999737A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	114	55	0.482456	NM_021222	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	ENST00000271620.3	37	CCDS977.1																																																																																			A|0.743;G|0.257	0.257	strong		0.498	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		G	150999737	A	G	150999737	2	3	22	1	0	0	0	0	0	0	0	1	12640	69	3	3		3	PRUNE	1	150999737	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2582	150999737	98250884	576	5684										
SEMA6C	10500	hgsc.bcm.edu	37	chr1	151107277	151107277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggacccatcacttacccaCcagatcccctgatatccaca	4	17	1	2	rs149398166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151107277C>T	ENST00000341697.3	-	16	3346	c.1655G>A	c.(1654-1656)gGt>gAt	p.G552D	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	552					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTACCCACCAGATCCCCT	0.527													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.0				p.G552D		Atlas-SNP	.											.	SEMA6C	70	.	0			c.G1655A						PASS	.	C	ASP/GLY,ASP/GLY,ASP/GLY	40,4366	43.8+/-77.6	2,36,2165	134	121	125		1655,1535,1655	3.2	1	1	dbSNP_134	125	0,8600		0,0,4300	yes	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	94,94,94	2,36,6465	TT,TC,CC		0.0,0.9079,0.3076	possibly-damaging,possibly-damaging,possibly-damaging	552/963,512/923,552/931	151107277	40,12966	2203	4300	6503	SO:0001583	missense	10500	exon16			TACCCACCAGATC	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1655G>A	1.37:g.151107277C>T	ENSP00000344148:p.Gly552Asp	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	206	107	0.519417	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	11.28	1.593364	0.28357	0.009079	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.25	3.22	0.36961	.	3.389920	0.00550	N	0.000248	T	0.33498	0.0865	L	0.44542	1.39	0.32800	D	0.500067	B;D;B;D	0.54772	0.002;0.96;0.1;0.968	B;P;B;P	0.50934	0.01;0.523;0.257;0.654	T	0.06232	-1.0838	10	0.37606	T	0.19	.	11.5843	0.50910	0.0:0.527:0.473:0.0	.	552;512;552;552	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	D	552;512;552;552	ENSP00000357910:G552D;ENSP00000357908:G512D;ENSP00000357909:G552D;ENSP00000344148:G552D	ENSP00000344148:G552D	G	-	2	0	SEMA6C	149373901	0.981000	0.34729	1.000000	0.80357	0.599000	0.36880	1.049000	0.30392	1.349000	0.45751	0.561000	0.74099	GGT	C|0.995;T|0.005	0.005	strong		0.527	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		T	151107277	C	T	151107277	3	4	22	1	0	0	0	0	1	0	0	0	14041	507	18	2	1253	2	SEMA6C	1	151107277	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107540	151107277	98143344	577	5685										
SEMA6C	10500	hgsc.bcm.edu	37	chr1	151112483	151112483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcaaggtccggttcaaggTcaggaatctctgaaagtcca	11	9	3	1	rs75185260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151112483T>C	ENST00000341697.3	-	4	1893	c.202A>G	c.(202-204)Acc>Gcc	p.T68A				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	68	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGTTCAAGGTCAGGAATCTC	0.572													T|||	308	0.0615016	0.1195	0.0159	5008	,	,		20742	0.0278		0.0219	False		,,,				2504	0.091				p.T68A		Atlas-SNP	.											.	SEMA6C	70	.	0			c.A202G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR	398,4008	198.4+/-222.2	10,378,1815	87	61	70		202,202,202	4.8	1	1	dbSNP_132	70	188,8412	82.9+/-145.4	0,188,4112	yes	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	58,58,58	10,566,5927	CC,CT,TT		2.186,9.0331,4.5056	possibly-damaging,possibly-damaging,possibly-damaging	68/963,68/923,68/931	151112483	586,12420	2203	4300	6503	SO:0001583	missense	10500	exon4			TCAAGGTCAGGAA	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.202A>G	1.37:g.151112483T>C	ENSP00000344148:p.Thr68Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	106	39	0.367925	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	100	0.045787545787545784	64	0.13008130081300814	7	0.019337016574585635	10	0.017482517482517484	19	0.025065963060686015	T	15.11	2.735203	0.48939	0.090331	0.02186	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.17854	2.25;2.45;2.26;2.25	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.297335	0.34828	N	0.003657	T	0.05181	0.0138	N	0.14661	0.345	0.29327	N	0.866961	B;P;B;P	0.42456	0.229;0.739;0.192;0.78	B;B;B;B	0.43301	0.193;0.291;0.122;0.415	T	0.15578	-1.0432	10	0.42905	T	0.14	.	10.595	0.45331	0.0:0.0:0.0:1.0	.	68;68;68;68	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	A	68	ENSP00000357910:T68A;ENSP00000357908:T68A;ENSP00000357909:T68A;ENSP00000344148:T68A	ENSP00000344148:T68A	T	-	1	0	SEMA6C	149379107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.894000	0.39768	2.016000	0.59253	0.459000	0.35465	ACC	T|0.953;C|0.047	0.047	strong		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		C	151112483	T	C	151112483	3	2	22	1	0	0	0	0	1	0	0	0	14041	1667	58	2	2754	2	SEMA6C	1	151112483	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5206	151112483	98138138	578	5686										
LYSMD1	388695	hgsc.bcm.edu	37	chr1	151138250	151138250	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagatcctcaaaggtccGctccgcataagataggtcac	9	12	3	2	rs113805704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151138250G>T	ENST00000368908.5	-	0	145				SCNM1_ENST00000368905.4_5'Flank|LYSMD1_ENST00000440902.2_Missense_Mutation_p.S3R	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1											endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAAGGTCCGCTCCGCATAA	0.537													G|||	38	0.00758786	0.0287	0.0	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.0				p.S3R		Atlas-SNP	.											.	LYSMD1	23	.	0			c.C9A						PASS	.	G	ARG/SER,,	33,1351		1,31,660	142	137	138		9,,	-8.1	0	1	dbSNP_132	138	1,3181		0,1,1590	yes	missense,intron,utr-5	LYSMD1,TNFAIP8L2-SCNM1	NM_001136543.1,NM_001204848.1,NM_212551.4	110,,	1,32,2250	TT,TG,GG		0.0314,2.3844,0.7446	,,	3/180,,	151138250	34,4532	692	1591	2283	SO:0001623	5_prime_UTR_variant	388695	exon1			AGGTCCGCTCCGC	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.-516C>A	1.37:g.151138250G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_001136543	B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	CCDS986.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	16.76	3.211662	0.58452	0.023844	3.14E-4	ENSG00000163155	ENST00000440902	T	0.32988	1.43	4.06	-8.13	0.01073	.	.	.	.	.	T	0.05090	0.0136	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27606	-1.0069	8	0.87932	D	0	.	0.7224	0.00943	0.307:0.2957:0.1987:0.1986	.	3	Q96S90-2	.	R	3	ENSP00000404059:S3R	ENSP00000404059:S3R	S	-	3	2	LYSMD1	149404874	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.795000	0.01752	-2.291000	0.00666	0.603000	0.83216	AGC	G|0.994;T|0.006	0.006	strong		0.537	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		T	151138250	G	T	151138250	1	4	22	0	1	0	0	0	0	0	0	0	9124	1078	38	4		4	LYSMD1	1	151138250	5'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25767	151138250	98112371	579	5687										
CGN	57530	hgsc.bcm.edu	37	chr1	151493098	151493098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctggttctactaaggcCgtggcagggcagggtgagct	15	9	3	1	rs141884525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151493098C>T	ENST00000271636.7	+	5	1204	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	351	Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTAAGGCCGTGGCAGGGC	0.557													C|||	28	0.00559105	0.0106	0.0	5008	,	,		19386	0.0129		0.0	False		,,,				2504	0.001				p.A357A		Atlas-SNP	.											.	CGN	106	.	0			c.C1071T						PASS	.	C		31,4375	36.8+/-68.6	0,31,2172	76	68	71		1071	3	0	1	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	CGN	NM_020770.2		0,31,6472	TT,TC,CC		0.0,0.7036,0.2384		357/1204	151493098	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	57530	exon5			TAAGGCCGTGGCA	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1071C>T	1.37:g.151493098C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	196	101	0.515306	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	CCDS999.1	5	0.0022893772893772895	2	0.0040650406504065045	0	0.0	3	0.005244755244755245	0	0.0	C	1.548	-0.540081	0.04053	0.007036	0.0	ENSG00000143375	ENST00000416743	.	.	.	4.97	3.02	0.34903	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18461	-1.0336	4	.	.	.	0.3924	10.9367	0.47249	0.0:0.6821:0.2427:0.0752	.	.	.	.	L	66	.	.	P	+	2	0	CGN	149759722	0.026000	0.19158	0.030000	0.17652	0.001000	0.01503	0.384000	0.20668	0.266000	0.21894	-0.797000	0.03246	CCG	C|0.997;T|0.003	0.003	strong		0.557	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151493098	C	T	151493098	2	4	22	1	0	0	0	0	0	0	0	1	3303	639	23	1		1	CGN	1	151493098	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	354848	151493098	97757523	580	5688										
CGN	57530	hgsc.bcm.edu	37	chr1	151496718	151496718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggctccagaacatgaagCgcctcttggaccagggtgaa	12	10	1	3	rs16833336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151496718C>T	ENST00000271636.7	+	7	1418	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	423	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAACATGAAGCGCCTCTTGGA	0.433													C|||	189	0.0377396	0.1377	0.0058	5008	,	,		20806	0.0		0.003	False		,,,				2504	0.0				p.R429C		Atlas-SNP	.											CGN,colon,carcinoma,-1,2	CGN	106	2	0			c.C1285T						PASS	.	C	CYS/ARG	482,3924	225.6+/-241.4	29,424,1750	72	67	69		1285	4	1	1	dbSNP_123	69	6,8594	4.3+/-15.6	0,6,4294	yes	missense	CGN	NM_020770.2	180	29,430,6044	TT,TC,CC		0.0698,10.9396,3.7521	benign	429/1204	151496718	488,12518	2203	4300	6503	SO:0001583	missense	57530	exon7			ATGAAGCGCCTCT	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1285C>T	1.37:g.151496718C>T	ENSP00000271636:p.Arg429Cys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	85	34	0.4	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	79	0.036172161172161175	77	0.1565040650406504	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.65	2.896561	0.52121	0.109396	6.98E-4	ENSG00000143375	ENST00000271636	T	0.63417	-0.04	4.95	4.02	0.46733	.	0.429980	0.25004	N	0.033881	T	0.19248	0.0462	N	0.08118	0	0.26850	N	0.96819	P	0.46327	0.876	B	0.34452	0.183	T	0.04781	-1.0927	10	0.72032	D	0.01	0.3796	10.5107	0.44860	0.1942:0.8058:0.0:0.0	rs16833336;rs16833336	423	Q9P2M7	CING_HUMAN	C	429	ENSP00000271636:R429C	ENSP00000271636:R429C	R	+	1	0	CGN	149763342	0.706000	0.27856	0.997000	0.53966	0.893000	0.52053	0.899000	0.28417	1.041000	0.40125	0.491000	0.48974	CGC	C|0.961;T|0.039	0.039	strong		0.433	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151496718	C	T	151496718	3	4	22	1	0	0	0	0	1	0	0	0	3303	768	27	1	1307	1	CGN	1	151496718	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3620	151496718	97753903	581	5689										
SNX27	81609	hgsc.bcm.edu	37	chr1	151638486	151638486	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtgatcagtcactccttTggtaagtaccagtggctgat	11	8	2	2	rs150091333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151638486T>C	ENST00000458013.2	+	6	1104	c.984T>C	c.(982-984)ttT>ttC	p.F328F	SNX27_ENST00000368838.1_Splice_Site_p.F235F|SNX27_ENST00000368843.3_Splice_Site_p.F328F|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	328	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCACTCCTTTGGTAAGTACC	0.403													T|||	19	0.00379393	0.0144	0.0	5008	,	,		21524	0.0		0.0	False		,,,				2504	0.0				p.F328F	Colon(46;291 966 40145 41237 41888)	Atlas-SNP	.											.	SNX27	44	.	0			c.T984C						PASS	.	T		62,4344	58.1+/-94.6	0,62,2141	169	146	154		984	3.9	1	1	dbSNP_134	154	6,8594	5.0+/-18.6	0,6,4294	yes	coding-synonymous-near-splice	SNX27	NM_030918.5		0,68,6435	CC,CT,TT		0.0698,1.4072,0.5228		328/529	151638486	68,12938	2203	4300	6503	SO:0001630	splice_region_variant	81609	exon6			CTCCTTTGGTAAG	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.985+1T>C	1.37:g.151638486T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	110	50	0.454545	NM_030918	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37																																																																																				T|0.994;C|0.006	0.006	strong		0.403	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	Silent	C	151638486	T	C	151638486	5	2	22	1	0	0	0	0	0	0	1	0	14897	1826	63	2	1006	2	SNX27	1	151638486	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	141768	151638486	97612135	582	5690										
MRPL9	65005	hgsc.bcm.edu	37	chr1	151733335	151733335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaccgtgtgataggctctTctggtaactttaatgtatgt	9	9	2	1	rs8480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151733335T>G	ENST00000368830.3	-	6	713	c.629A>C	c.(628-630)gAa>gCa	p.E210A	OAZ3_ENST00000479764.1_5'Flank|MRPL9_ENST00000368829.3_Missense_Mutation_p.E176A|MRPL9_ENST00000467306.1_5'UTR|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000315067.8_5'Flank|OAZ3_ENST00000453029.2_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	210			E -> A (in dbSNP:rs8480). {ECO:0000269|PubMed:11279069}.		translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATAGGCTCTTCTGGTAACTT	0.393													T|||	2564	0.511981	0.6936	0.5951	5008	,	,		14847	0.4365		0.4642	False		,,,				2504	0.3344				p.E210A		Atlas-SNP	.											.	MRPL9	21	.	0			c.A629C						PASS	.	T	ALA/GLU	2777,1629	660.1+/-400.7	871,1035,297	94	88	90		629	5.3	1	1	dbSNP_52	90	4111,4489	564.0+/-388.2	970,2171,1159	yes	missense	MRPL9	NM_031420.2	107	1841,3206,1456	GG,GT,TT		47.8023,36.9723,47.0398	probably-damaging	210/268	151733335	6888,6118	2203	4300	6503	SO:0001583	missense	65005	exon6			GGCTCTTCTGGTA	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.629A>C	1.37:g.151733335T>G	ENSP00000357823:p.Glu210Ala	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	25	14	0.56	NM_031420	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	1138	0.5210622710622711	347	0.7052845528455285	211	0.5828729281767956	231	0.40384615384615385	349	0.4604221635883905	T	18.44	3.625299	0.66901	0.630277	0.478023	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.36520	1.25;1.41	5.27	5.27	0.74061	.	0.198238	0.36234	N	0.002702	T	0.31827	0.0809	M	0.70275	2.135	0.25674	P	0.9858646	D	0.54772	0.968	P	0.48552	0.581	T	0.32428	-0.9907	9	0.40728	T	0.16	-16.0534	11.5085	0.50481	0.0:0.0:0.0:1.0	rs8480;rs1046989;rs16939319;rs52833399;rs59220170;rs8480	210	Q9BYD2	RM09_HUMAN	A	210;176	ENSP00000357823:E210A;ENSP00000357822:E176A	ENSP00000357822:E176A	E	-	2	0	MRPL9	149999959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.818000	0.62657	2.198000	0.70561	0.533000	0.62120	GAA	T|0.485;G|0.515	0.515	strong		0.393	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		G	151733335	T	G	151733335	3	3	22	1	0	0	0	0	1	0	0	0	9820	1783	62	5	182	5	MRPL9	1	151733335	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	94849	151733335	97517286	583	5691										
MRPL9	65005	hgsc.bcm.edu	37	chr1	151735545	151735545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccagcttatagacgcgAtgtcgccggtgcaggcgcgg	14	13	0	1	rs1196455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151735545A>G	ENST00000368830.3	-	2	315	c.231T>C	c.(229-231)caT>caC	p.H77H	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000479764.1_5'Flank|MRPL9_ENST00000368829.3_Silent_p.H77H|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000315067.8_5'UTR|OAZ3_ENST00000453029.2_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	77					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATAGACGCGATGTCGCCGGT	0.672													A|||	873	0.174321	0.1422	0.1037	5008	,	,		12558	0.3611		0.003	False		,,,				2504	0.2515				p.H77H		Atlas-SNP	.											.	MRPL9	21	.	0			c.T231C						PASS	.	A	,	560,3846	249.0+/-256.6	33,494,1676	54	56	56		,231	2.8	1	1	dbSNP_87	56	32,8568	22.2+/-67.0	0,32,4268	no	utr-5,coding-synonymous	OAZ3,MRPL9	NM_001134939.1,NM_031420.2	,	33,526,5944	GG,GA,AA		0.3721,12.7099,4.5517	,	,77/268	151735545	592,12414	2203	4300	6503	SO:0001819	synonymous_variant	65005	exon2			GACGCGATGTCGC	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.231T>C	1.37:g.151735545A>G		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	194	95	0.489691	NM_031420	B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	ENST00000368830.3	37	CCDS1003.1																																																																																			A|0.908;G|0.092	0.092	strong		0.672	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		G	151735545	A	G	151735545	2	3	22	1	0	0	0	0	0	0	0	1	9820	330	12	2		2	MRPL9	1	151735545	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2210	151735545	97515076	584	5692										
THEM5	284486	hgsc.bcm.edu	37	chr1	151820324	151820324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtccattacaaccagagagTccacggggatcaagctggga	12	11	1	1	rs6587625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151820324T>C	ENST00000368817.5	-	5	721	c.590A>G	c.(589-591)gAc>gGc	p.D197G	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	197			D -> G (in dbSNP:rs6587625).		cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACCAGAGAGTCCACGGGGAT	0.532													C|||	3896	0.777955	0.8752	0.8674	5008	,	,		15489	0.6815		0.833	False		,,,				2504	0.6258				p.D197G		Atlas-SNP	.											.	THEM5	41	.	0			c.A590G						PASS	.	C	GLY/ASP	3782,624	271.0+/-269.9	1625,532,46	94	89	91		590	4.2	1	1	dbSNP_116	91	6954,1646	304.6+/-307.0	2819,1316,165	yes	missense	THEM5	NM_182578.3	94	4444,1848,211	CC,CT,TT		19.1395,14.1625,17.4535	benign	197/248	151820324	10736,2270	2203	4300	6503	SO:0001583	missense	284486	exon5			AGAGAGTCCACGG	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.590A>G	1.37:g.151820324T>C	ENSP00000357807:p.Asp197Gly	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_182578	Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	1746|1746	0.7994505494505495|0.7994505494505495	426|426	0.8658536585365854|0.8658536585365854	309|309	0.8535911602209945|0.8535911602209945	379|379	0.6625874125874126|0.6625874125874126	632|632	0.8337730870712401|0.8337730870712401	C|C	0.017|0.017	-1.506755|-1.506755	0.00992|0.00992	0.858375|0.858375	0.808605|0.808605	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.12147|.	2.71|.	5.09|5.09	4.17|4.17	0.49024|0.49024	Thioesterase superfamily (1);|.	0.207171|.	0.40818|.	N|.	0.001017|.	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.00670|0.00670	-1.27|-1.27	0.51012|0.51012	P|P	9.40000000000385E-5|9.40000000000385E-5	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38714|0.38714	-0.9648|-0.9648	9|4	0.02654|.	T|.	1|.	-13.1518|-13.1518	7.1408|7.1408	0.25554|0.25554	0.0:0.8002:0.0:0.1998|0.0:0.8002:0.0:0.1998	rs6587625;rs52794777;rs57310650;rs6587625|rs6587625;rs52794777;rs57310650;rs6587625	197|.	Q8N1Q8|.	THEM5_HUMAN|.	G|A	197|144	ENSP00000357807:D197G|.	ENSP00000357807:D197G|.	D|T	-|-	2|1	0|0	THEM5|THEM5	150086948|150086948	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.053000|0.053000	0.15095|0.15095	0.635000|0.635000	0.24629|0.24629	1.160000|1.160000	0.42584|0.42584	-0.119000|-0.119000	0.15052|0.15052	GAC|ACT	T|0.206;C|0.794	0.794	strong		0.532	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		C	151820324	T	C	151820324	3	2	22	1	0	0	0	0	1	0	0	0	15856	1667	58	2	161	2	THEM5	1	151820324	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	84779	151820324	97430297	585	5693										
THEM5	284486	hgsc.bcm.edu	37	chr1	151825991	151825991	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacggggggcctcaagaagGcctctgtggtggccaagtct	15	10	3	1	rs7556386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:151825991G>T	ENST00000368817.5	-	1	182	c.51C>A	c.(49-51)ggC>ggA	p.G17G		NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	17					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCAAGAAGGCCTCTGTGGT	0.582													G|||	3138	0.626597	0.7421	0.562	5008	,	,		17329	0.6567		0.6859	False		,,,				2504	0.4243				p.G17G		Atlas-SNP	.											.	THEM5	41	.	0			c.C51A						PASS	.	G		3178,1228	706.0+/-407.3	1154,870,179	105	106	106		51	1.9	0	1	dbSNP_116	106	5822,2778	678.3+/-403.5	1984,1854,462	no	coding-synonymous	THEM5	NM_182578.3		3138,2724,641	TT,TG,GG		32.3023,27.8711,30.8012		17/248	151825991	9000,4006	2203	4300	6503	SO:0001819	synonymous_variant	284486	exon1			AAGAAGGCCTCTG	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.51C>A	1.37:g.151825991G>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_182578	Q5T1C3	Silent	SNP	ENST00000368817.5	37	CCDS1005.1																																																																																			G|0.330;T|0.670	0.670	strong		0.582	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		T	151825991	G	T	151825991	2	4	22	1	0	0	0	0	0	0	0	1	15856	1190	42	4		4	THEM5	1	151825991	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5667	151825991	97424630	586	5694										
TCHHL1	126637	hgsc.bcm.edu	37	chr1	152060495	152060495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcacctgaaaaaagtccCcaaactcgccctggatgagt	8	13	1	2	rs76137589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152060495C>T	ENST00000368806.1	-	2	189	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	42							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAAAAAGTCCCCAAACTCGCC	0.458													c|||	59	0.0117812	0.0431	0.0029	5008	,	,		19439	0.0		0.0	False		,,,				2504	0.0				p.G42E		Atlas-SNP	.											.	TCHHL1	132	.	0			c.G125A						PASS	.	C	GLU/GLY	196,4210		8,180,2015	183	181	182		125	-0.3	0.9	1	dbSNP_131	182	0,8600		0,0,4300	yes	missense	TCHHL1	NM_001008536.1	98	8,180,6315	TT,TC,CC		0.0,4.4485,1.507	possibly-damaging	42/905	152060495	196,12810	2203	4300	6503	SO:0001583	missense	126637	exon2			AAGTCCCCAAACT		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.125G>A	1.37:g.152060495C>T	ENSP00000357796:p.Gly42Glu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	120	51	0.425	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	.	11.72	1.721614	0.30503	0.044485	0.0	ENSG00000182898	ENST00000368806	T	0.10573	2.86	6.0	-0.34	0.12643	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.624434	0.13321	N	0.396729	T	0.05593	0.0147	L	0.58969	1.84	0.29774	N	0.834538	D	0.56746	0.977	P	0.51324	0.666	T	0.28004	-1.0057	10	0.20519	T	0.43	-1.2812	5.8572	0.18727	0.0:0.5081:0.1244:0.3675	.	42	Q5QJ38	TCHL1_HUMAN	E	42	ENSP00000357796:G42E	ENSP00000357796:G42E	G	-	2	0	TCHHL1	150327119	0.666000	0.27475	0.918000	0.36340	0.264000	0.26372	-0.095000	0.11077	-0.059000	0.13154	-0.136000	0.14681	GGG	C|0.985;T|0.015	0.015	strong		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		T	152060495	C	T	152060495	3	4	22	1	0	0	0	0	1	0	0	0	15698	623	22	2	2597	2	TCHHL1	1	152060495	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	234504	152060495	97190126	587	5695										
HRNR	388697	hgsc.bcm.edu	37	chr1	152191052	152191052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagctggaagactgcccgGaaccagacccatgtcggcca	11	14	0	2	rs115232928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152191052G>T	ENST00000368801.2	-	3	3128	c.3053C>A	c.(3052-3054)tCc>tAc	p.S1018Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1018					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGCCCGGAACCAGACCC	0.607													G|||	95	0.0189696	0.0696	0.0043	5008	,	,		21165	0.0		0.0	False		,,,				2504	0.0				p.S1018Y		Atlas-SNP	.											.	HRNR	403	.	0			c.C3053A						PASS	.	G	TYR/SER	190,4216	121.3+/-158.8	4,182,2017	135	149	145		3053	-0.1	0	1	dbSNP_132	145	0,8600		0,0,4300	no	missense	HRNR	NM_001009931.1	144	4,182,6317	TT,TG,GG		0.0,4.3123,1.4609	probably-damaging	1018/2851	152191052	190,12816	2203	4300	6503	SO:0001583	missense	388697	exon3			TGCCCGGAACCAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3053C>A	1.37:g.152191052G>T	ENSP00000357791:p.Ser1018Tyr	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	264	122	0.462121	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	G	4.651	0.121012	0.08881	0.043123	0.0	ENSG00000197915	ENST00000368801	T	0.02472	4.28	3.24	-0.0513	0.13827	.	.	.	.	.	T	0.01695	0.0054	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.65987	0.94	T	0.44832	-0.9302	9	0.28530	T	0.3	.	3.0366	0.06124	0.2539:0.0:0.536:0.21	.	1018	Q86YZ3	HORN_HUMAN	Y	1018	ENSP00000357791:S1018Y	ENSP00000357791:S1018Y	S	-	2	0	HRNR	150457676	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	0.817000	0.27281	-0.110000	0.12022	0.558000	0.71614	TCC	G|0.985;T|0.015	0.015	strong		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191052	G	T	152191052	3	4	22	1	0	0	0	0	1	0	0	0	7359	1174	41	4	5503	4	HRNR	1	152191052	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	130557	152191052	97059569	588	5696										
HRNR	388697	hgsc.bcm.edu	37	chr1	152191116	152191116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatccagacccatgttggcCgtggcccaaagactgacggg	13	12	0	4	rs138107632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152191116C>T	ENST00000368801.2	-	3	3064	c.2989G>A	c.(2989-2991)Ggc>Agc	p.G997S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	997					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGTGGCCCAAA	0.582													C|||	96	0.0191693	0.0696	0.0043	5008	,	,		24162	0.001		0.0	False		,,,				2504	0.0				p.G997S		Atlas-SNP	.											.	HRNR	403	.	0			c.G2989A						PASS	.	C	SER/GLY	190,4216	121.3+/-158.8	4,182,2017	136	140	139		2989	-1.5	0	1	dbSNP_134	139	0,8594		0,0,4297	no	missense	HRNR	NM_001009931.1	56	4,182,6314	TT,TC,CC		0.0,4.3123,1.4615	probably-damaging	997/2851	152191116	190,12810	2203	4297	6500	SO:0001583	missense	388697	exon3			GTTGGCCGTGGCC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2989G>A	1.37:g.152191116C>T	ENSP00000357791:p.Gly997Ser	Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	266	124	0.466165	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	26	0.011904761904761904	22	0.044715447154471545	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	C	9.275	1.046626	0.19748	0.043123	0.0	ENSG00000197915	ENST00000368801	T	0.01705	4.68	3.65	-1.49	0.08718	.	.	.	.	.	T	0.00271	0.0008	N	0.04297	-0.235	0.09310	N	1	D	0.57899	0.981	B	0.37943	0.261	T	0.37934	-0.9684	9	0.12430	T	0.62	.	7.1807	0.25770	0.0:0.4928:0.0:0.5072	.	997	Q86YZ3	HORN_HUMAN	S	997	ENSP00000357791:G997S	ENSP00000357791:G997S	G	-	1	0	HRNR	150457740	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.954000	0.03873	-0.422000	0.07405	0.556000	0.70494	GGC	C|0.985;T|0.015	0.015	strong		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191116	C	T	152191116	3	4	22	1	0	0	0	0	1	0	0	0	7359	652	23	1	5567	1	HRNR	1	152191116	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64	152191116	97059505	589	5697										
HRNR	388697	hgsc.bcm.edu	37	chr1	152193049	152193049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggactgtcctgagccagaCtcatgttgcccaaagccaga	11	12	1	3	rs114845154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152193049C>T	ENST00000368801.2	-	3	1131	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	352					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCAGACTCATGTTGCC	0.557													C|||	95	0.0189696	0.0696	0.0043	5008	,	,		22156	0.0		0.0	False		,,,				2504	0.0				p.E352E		Atlas-SNP	.											HRNR,NS,carcinoma,-2,1	HRNR	403	1	0			c.G1056A						PASS	.	C		188,4218	120.8+/-158.4	2,184,2017	118	121	120		1056	-8.3	0	1	dbSNP_132	120	0,8600		0,0,4300	no	coding-synonymous	HRNR	NM_001009931.1		2,184,6317	TT,TC,CC		0.0,4.2669,1.4455		352/2851	152193049	188,12818	2203	4300	6503	SO:0001819	synonymous_variant	388697	exon3			GCCAGACTCATGT	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1056G>A	1.37:g.152193049C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			C|0.985;T|0.015	0.015	strong		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152193049	C	T	152193049	2	4	22	1	0	0	0	0	0	0	0	1	7359	564	20	2		2	HRNR	1	152193049	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1933	152193049	97057572	590	5698										
FLG	2312	hgsc.bcm.edu	37	chr1	152275559	152275559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatacgcagaatcttgtgAaagactactaaagtgaccat	9	7	1	5	rs3126065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152275559A>G	ENST00000368799.1	-	3	11838	c.11803T>C	c.(11803-11805)Tca>Cca	p.S3935P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3935	Ser-rich.		S -> P (in dbSNP:rs3126065).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATCTTGTGAAAGACTACTA	0.468									Ichthyosis				A|||	548	0.109425	0.3979	0.0303	5008	,	,		22781	0.0		0.001	False		,,,				2504	0.0				p.S3935P		Atlas-SNP	.											.	FLG	900	.	0			c.T11803C						PASS	.	A	PRO/SER	1446,2960	468.3+/-355.1	228,990,985	138	133	135		11803	-0.9	0	1	dbSNP_103	135	14,8586	9.8+/-36.6	0,14,4286	yes	missense	FLG	NM_002016.1	74	228,1004,5271	GG,GA,AA		0.1628,32.8189,11.2256	probably-damaging	3935/4062	152275559	1460,11546	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTTGTGAAAGACT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11803T>C	1.37:g.152275559A>G	ENSP00000357789:p.Ser3935Pro	Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	178	178	1	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	185	0.08470695970695971	174	0.35365853658536583	11	0.03038674033149171	0	0.0	0	0.0	A	4.914	0.169897	0.09339	0.328189	0.001628	ENSG00000143631	ENST00000368799	T	0.03772	3.81	2.35	-0.929	0.10444	.	.	.	.	.	T	0.01661	0.0053	L	0.52573	1.65	0.80722	P	0.0	D	0.53885	0.963	B	0.44108	0.441	T	0.39461	-0.9613	8	0.46703	T	0.11	.	1.6209	0.02713	0.4417:0.0:0.2748:0.2835	rs3126065;rs3126065	3935	P20930	FILA_HUMAN	P	3935	ENSP00000357789:S3935P	ENSP00000357789:S3935P	S	-	1	0	FLG	150542183	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.627000	0.05521	-0.321000	0.08627	0.533000	0.62120	TCA	A|0.871;G|0.129	0.129	strong		0.468	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152275559	A	G	152275559	3	3	22	1	0	0	0	0	1	0	0	0	5922	246	9	2	386	2	FLG	1	152275559	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82510	152275559	96975062	591	5699			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276474	152276474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtctgctgactgctggtGgtgggatccatgtctctctc	13	11	3	1	rs76019722		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276474G>A	ENST00000368799.1	-	3	10923	c.10888C>T	c.(10888-10890)Cac>Tac	p.H3630Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3630	Ser-rich.		H -> Y (in dbSNP:rs9436065).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTGGTGGTGGGATCCA	0.542									Ichthyosis																												p.H3630Y		Atlas-SNP	.											.	FLG	900	.	0			c.C10888T						PASS	.	G	TYR/HIS	1203,3199		0,1203,998	203	163	176		10888	2.2	0	1	dbSNP_131	176	14,8576		0,14,4281	no	missense	FLG	NM_002016.1	83	0,1217,5279	AA,AG,GG		0.163,27.3285,9.3673	probably-damaging	3630/4062	152276474	1217,11775	2201	4295	6496	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTGGTGGTGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10888C>T	1.37:g.152276474G>A	ENSP00000357789:p.His3630Tyr	Somatic	367	0	0		WXS	Illumina HiSeq	Phase_I	572	364	0.636364	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	157	0.07188644688644688	146	0.2967479674796748	11	0.03038674033149171	0	0.0	0	0.0	G	9.840	1.190882	0.21954	0.273285	0.00163	ENSG00000143631	ENST00000368799	T	0.01665	4.7	4.11	2.18	0.27775	.	.	.	.	.	T	0.01627	0.0052	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	D	0.75020	0.985	T	0.24728	-1.0152	9	0.02654	T	1	.	6.2399	0.20785	0.2304:0.0:0.7696:0.0	rs9436065;rs52822444;rs9436065	3630	P20930	FILA_HUMAN	Y	3630	ENSP00000357789:H3630Y	ENSP00000357789:H3630Y	H	-	1	0	FLG	150543098	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.464000	0.21988	1.051000	0.40369	0.502000	0.49764	CAC	G|0.997;A|0.003	0.003	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276474	G	A	152276474	3	1	22	1	0	0	0	0	1	0	0	0	5922	1348	47	2	1301	2	FLG	1	152276474	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	915	152276474	96974147	592	5700			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276490	152276490	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggtgggatccatgtctCtctcctgcacttgatcttgc	11	11	3	1	rs199933055		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276490C>T	ENST00000368799.1	-	3	10907	c.10872G>A	c.(10870-10872)gaG>gaA	p.E3624E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3624	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATGTCTCTCTCCTGCAC	0.547									Ichthyosis				c|||	1	0.000199681	0.0	0.0	5008	,	,		24918	0.0		0.0	False		,,,				2504	0.001				p.E3624E		Atlas-SNP	.											FLG,NS,carcinoma,-2,1	FLG	900	1	0			c.G10872A						scavenged	.						273	219	237					1																	152276490		2201	4296	6497	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATGTCTCTCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10872G>A	1.37:g.152276490C>T		Somatic	401	0	0		WXS	Illumina HiSeq	Phase_I	631	9	0.0142631	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			C|0.999;G|0.001	.	weak		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276490	C	T	152276490	2	4	22	1	0	0	0	0	0	0	0	1	5922	912	32	2		2	FLG	1	152276490	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16	152276490	96974131	593	5701			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276583	152276583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcctgattgtctggagctCtctgcagagtgcccgtgacc	13	12	2	3	rs12083389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276583C>G	ENST00000368799.1	-	3	10814	c.10779G>C	c.(10777-10779)gaG>gaC	p.E3593D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3593	Ser-rich.		E -> D (in dbSNP:rs12083389).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGGAGCTCTCTGCAGAGT	0.552									Ichthyosis				G|||	1810	0.361422	0.4796	0.3213	5008	,	,		16486	0.4732		0.1233	False		,,,				2504	0.3599				p.E3593D		Atlas-SNP	.											.	FLG	900	.	0			c.G10779C						PASS	.	G	ASP/GLU	1672,2734		368,936,899	179	217	204		10779	2.5	0	1	dbSNP_120	204	274,8322		19,236,4043	no	missense	FLG	NM_002016.1	45	387,1172,4942	GG,GC,CC		3.1875,37.9483,14.9669	benign	3593/4062	152276583	1946,11056	2203	4298	6501	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGAGCTCTCTGCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10779G>C	1.37:g.152276583C>G	ENSP00000357789:p.Glu3593Asp	Somatic	633	0	0		WXS	Illumina HiSeq	Phase_I	643	596	0.926905	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	620	0.2838827838827839	203	0.41260162601626016	84	0.23204419889502761	251	0.4388111888111888	82	0.10817941952506596	G	6.112	0.388950	0.11581	0.379483	0.031875	ENSG00000143631	ENST00000368799	T	0.00760	5.73	3.48	2.54	0.30619	.	.	.	.	.	T	0.00144	0.0004	N	0.02539	-0.55	0.80722	P	0.0	B	0.15719	0.014	B	0.15870	0.014	T	0.10474	-1.0628	8	0.05721	T	0.95	.	9.8829	0.41245	0.0:0.4036:0.5964:0.0	rs12083389	3593	P20930	FILA_HUMAN	D	3593	ENSP00000357789:E3593D	ENSP00000357789:E3593D	E	-	3	2	FLG	150543207	0.002000	0.14202	0.020000	0.16555	0.021000	0.10359	0.308000	0.19314	0.254000	0.21573	-0.301000	0.09380	GAG	C|0.820;G|0.180	0.180	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276583	C	G	152276583	3	3	22	1	0	0	0	0	1	0	0	0	5922	912	32	4	1410	4	FLG	1	152276583	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93	152276583	96974038	594	5702			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276603	152276603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgcagagtgcccgtgacCggctctgtcttcgtgatggg	14	12	3	3	rs111939167		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276603C>T	ENST00000368799.1	-	3	10794	c.10759G>A	c.(10759-10761)Ggt>Agt	p.G3587S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3587	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCGTGACCGGCTCTGTCT	0.562									Ichthyosis																												p.G3587S		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.G10759A						PASS	.						176	237	216					1																	152276603		2200	4294	6494	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGTGACCGGCTCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10759G>A	1.37:g.152276603C>T	ENSP00000357789:p.Gly3587Ser	Somatic	609	0	0		WXS	Illumina HiSeq	Phase_I	581	297	0.511188	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099425	0.07010	.	.	ENSG00000143631	ENST00000368799	T	0.00902	5.56	3.24	-6.48	0.01896	.	.	.	.	.	T	0.00144	0.0004	N	0.25890	0.77	0.09310	N	1	P	0.47106	0.89	B	0.41646	0.362	T	0.48790	-0.9004	9	0.05436	T	0.98	.	1.8762	0.03219	0.2398:0.387:0.2291:0.1442	.	3587	P20930	FILA_HUMAN	S	3587	ENSP00000357789:G3587S	ENSP00000357789:G3587S	G	-	1	0	FLG	150543227	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.237000	0.00545	-3.276000	0.00198	-0.507000	0.04495	GGT	T|1.000;|0.000	1.000	weak		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276603	C	T	152276603	3	4	22	1	0	0	0	0	1	0	0	0	5922	652	23	1	1430	1	FLG	1	152276603	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20	152276603	96974018	595	5703			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276626	152276626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgtcttcgtgatgggacGtggggtgtctggagccatct	15	9	4	1	rs3126075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276626G>C	ENST00000368799.1	-	3	10771	c.10736C>G	c.(10735-10737)aCg>aGg	p.T3579R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3579	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACGTGGGGTGTCT	0.567									Ichthyosis				C|||	2393	0.477835	0.6074	0.4395	5008	,	,		15943	0.6498		0.1561	False		,,,				2504	0.4836				p.T3579R		Atlas-SNP	.											FLG,colon,carcinoma,-1,1	FLG	900	1	0			c.C10736G						scavenged	.	C	ARG/THR	1117,3267		429,259,1504	128	213	184		10736	-2.5	0	1	dbSNP_103	184	149,8435		32,85,4175	no	missense	FLG	NM_002016.1	71	461,344,5679	CC,CG,GG		1.7358,25.479,9.7625	benign	3579/4062	152276626	1266,11702	2192	4292	6484	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGGACGTGGGGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10736C>G	1.37:g.152276626G>C	ENSP00000357789:p.Thr3579Arg	Somatic	564	0	0		WXS	Illumina HiSeq	Phase_I	483	480	0.993789	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	619	0.2834249084249084	182	0.3699186991869919	94	0.2596685082872928	272	0.4755244755244755	71	0.09366754617414248	C	1.750	-0.489390	0.04352	0.25479	0.017358	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.29	-2.52	0.06346	.	.	.	.	.	T	0.00178	0.0005	N	0.00538	-1.39	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.26189	-1.0110	9	0.12430	T	0.62	.	4.0484	0.09783	0.0:0.2359:0.3609:0.4032	rs3126075;rs12072880;rs60733655	3579	P20930	FILA_HUMAN	R	3579	ENSP00000357789:T3579R	ENSP00000357789:T3579R	T	-	2	0	FLG	150543250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.448000	0.00121	-0.991000	0.03476	-0.521000	0.04368	ACG	G|0.716;C|0.284	0.284	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276626	G	C	152276626	3	2	22	1	0	0	0	0	1	0	0	0	5922	1145	40	4	1453	4	FLG	1	152276626	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	152276626	96973995	596	5704			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276659	152276659	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccatctcttgactgctccTgagcagatccacgatggttt					rs7532285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276659T>C	ENST00000368799.1	-	3	10738	c.10703A>G	c.(10702-10704)cAg>cGg	p.Q3568R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCTGAGCAGATCC	0.567									Ichthyosis				t|||	1035	0.206669	0.2133	0.1916	5008	,	,		18266	0.3403		0.0696	False		,,,				2504	0.2117				p.Q3568R		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.A10703G						scavenged	.						148	201	183					1																	152276659		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTCCTGAGCAG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10703A>G	1.37:g.152276659T>C	ENSP00000357789:p.Gln3568Arg	Somatic	507	1	0.00197239		WXS	Illumina HiSeq	Phase_I	501	97	0.193613	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	3.885	-0.025135	0.07589	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	3.16	-6.33	0.01988	.	.	.	.	.	T	0.00210	0.0006	N	0.04508	-0.205	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.45948	-0.9226	9	0.15066	T	0.55	.	1.2756	0.02030	0.1435:0.216:0.1461:0.4945	rs7532285;rs56765845;rs7532285	3568	P20930	FILA_HUMAN	R	3568	ENSP00000357789:Q3568R	ENSP00000357789:Q3568R	Q	-	2	0	FLG	150543283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.180000	0.03088	-1.526000	0.01760	-1.734000	0.00692	CAG	T|0.993;C|0.007	0.007	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276659	T	C	152276659	3	2	22	1	0	0	0	0	1	0	0	0	5922	1580	55	3	1486	3	FLG	1	152276659	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33	152276659	96973962	597	5705	111	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276660	152276660	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatctcttgactgctcctGagcagatccacgatggtttc					rs7540123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276660G>C	ENST00000368799.1	-	3	10737	c.10702C>G	c.(10702-10704)Cag>Gag	p.Q3568E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCTGAGCAGATCCA	0.572									Ichthyosis				G|||	1035	0.206669	0.2133	0.1916	5008	,	,		17873	0.3403		0.0696	False		,,,				2504	0.2117				p.Q3568E		Atlas-SNP	.											FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.C10702G						scavenged	.						149	201	183					1																	152276660		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTCCTGAGCAGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10702C>G	1.37:g.152276660G>C	ENSP00000357789:p.Gln3568Glu	Somatic	501	1	0.00199601		WXS	Illumina HiSeq	Phase_I	501	101	0.201597	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.450	-0.112146	0.06881	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.16	1.14	0.20703	.	.	.	.	.	T	0.00412	0.0013	L	0.44542	1.39	0.09310	N	1	P	0.41080	0.737	B	0.36504	0.226	T	0.32402	-0.9908	9	0.02654	T	1	.	3.1883	0.06608	0.1468:0.0:0.5899:0.2633	rs7540123;rs57866496;rs7540123	3568	P20930	FILA_HUMAN	E	3568	ENSP00000357789:Q3568E	ENSP00000357789:Q3568E	Q	-	1	0	FLG	150543284	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.365000	0.34182	0.608000	0.30000	0.398000	0.26397	CAG	G|0.995;C|0.005	0.005	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276660	G	C	152276660	3	2	22	1	0	0	0	0	1	0	0	0	5922	1299	45	4	1487	4	FLG	1	152276660	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	152276660	96973961	598	5706	111	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276699	152276699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggaagcagacccagaccAcctctcagagtcttctgagt	9	13	4	4	rs12728605		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276699A>G	ENST00000368799.1	-	3	10698	c.10663T>C	c.(10663-10665)Tgg>Cgg	p.W3555R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3555	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCAGACCACCTCTCAGAG	0.587									Ichthyosis																												p.W3555R		Atlas-SNP	.											.	FLG	900	.	0			c.T10663C						PASS	.						153	176	168					1																	152276699		2203	4297	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CAGACCACCTCTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10663T>C	1.37:g.152276699A>G	ENSP00000357789:p.Trp3555Arg	Somatic	460	1	0.00217391		WXS	Illumina HiSeq	Phase_I	481	257	0.534304	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.499	-0.871634	0.02570	.	.	ENSG00000143631	ENST00000368799	T	0.01560	4.77	2.05	-1.37	0.09056	.	.	.	.	.	T	0.00328	0.0010	N	0.11560	0.145	0.09310	N	1	B	0.24823	0.112	B	0.30646	0.118	T	0.36089	-0.9762	9	0.16420	T	0.52	.	3.8418	0.08917	0.1491:0.0:0.4879:0.3631	rs12728605	3555	P20930	FILA_HUMAN	R	3555	ENSP00000357789:W3555R	ENSP00000357789:W3555R	W	-	1	0	FLG	150543323	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.181000	0.03085	-0.764000	0.04651	-2.221000	0.00296	TGG	A|0.167;G|0.833	0.833	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276699	A	G	152276699	3	3	22	1	0	0	0	0	1	0	0	0	5922	159	6	2	1526	2	FLG	1	152276699	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39	152276699	96973922	599	5707			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276871	152276871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccatgagtgcctggagccAtctcctgattgttcgtcatt	10	11	2	2	rs3126066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276871A>G	ENST00000368799.1	-	3	10526	c.10491T>C	c.(10489-10491)gaT>gaC	p.D3497D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3497	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCATCTCCTGATT	0.582									Ichthyosis				G|||	2239	0.447085	0.5204	0.4395	5008	,	,		19200	0.6448		0.1471	False		,,,				2504	0.4581				p.D3497D		Atlas-SNP	.											.	FLG	900	.	0			c.T10491C						PASS	.	G		2040,2366	609.3+/-391.3	470,1100,633	267	264	265		10491	-4.6	0	1	dbSNP_103	265	1276,7318	759.6+/-407.6	123,1030,3144	no	coding-synonymous	FLG	NM_002016.1		593,2130,3777	GG,GA,AA		14.8476,46.3005,25.5077		3497/4062	152276871	3316,9684	2203	4297	6500	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGAGCCATCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10491T>C	1.37:g.152276871A>G		Somatic	421	0	0		WXS	Illumina HiSeq	Phase_I	421	421	1	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.703;G|0.297	0.297	strong		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276871	A	G	152276871	2	3	22	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152276871	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	172	152276871	96973750	600	5708			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152276889	152276889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatctcctgattgttcgtcAttacgagtttgtctgctggc	9	11	3	1	rs3126067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152276889A>G	ENST00000368799.1	-	3	10508	c.10473T>C	c.(10471-10473)aaT>aaC	p.N3491N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3491	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTCGTCATTACGAGTTT	0.577									Ichthyosis				a|||	2617	0.522564	0.7912	0.4553	5008	,	,		19155	0.6498		0.1511	False		,,,				2504	0.4581				p.N3491N		Atlas-SNP	.											.	FLG	900	.	0			c.T10473C						PASS	.	G		3036,1370	690.8+/-405.3	1065,906,232	295	287	289		10473	0.8	0	1	dbSNP_103	289	1298,7296	256.5+/-280.9	126,1046,3125	no	coding-synonymous	FLG	NM_002016.1		1191,1952,3357	GG,GA,AA		15.1036,31.094,33.3385		3491/4062	152276889	4334,8666	2203	4297	6500	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTCGTCATTACGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10473T>C	1.37:g.152276889A>G		Somatic	417	2	0.00479616		WXS	Illumina HiSeq	Phase_I	413	406	0.983051	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.637;G|0.363	0.363	strong		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276889	A	G	152276889	2	3	22	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152276889	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18	152276889	96973732	601	5709			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152277055	152277055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgcttgaccccgggtgtCcacgaatggtgtcctgaccc	11	14	1	2	rs2065955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152277055C>G	ENST00000368799.1	-	3	10342	c.10307G>C	c.(10306-10308)gGa>gCa	p.G3436A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3436	Ser-rich.		G -> A (in dbSNP:rs2065955).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.597									Ichthyosis				C|||	2575	0.514177	0.7882	0.4481	5008	,	,		18425	0.6349		0.1481	False		,,,				2504	0.4427				p.G3436A		Atlas-SNP	.											.	FLG	900	.	0			c.G10307C						PASS	.	C	ALA/GLY	3017,1389	686.4+/-404.7	1050,917,236	295	296	295		10307	-1.1	0	1	dbSNP_94	295	1294,7306	254.0+/-279.5	122,1050,3128	no	missense	FLG	NM_002016.1	60	1172,1967,3364	GG,GC,CC		15.0465,31.5252,33.1462	possibly-damaging	3436/4062	152277055	4311,8695	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGGTGTCCACGAA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10307G>C	1.37:g.152277055C>G	ENSP00000357789:p.Gly3436Ala	Somatic	399	0	0		WXS	Illumina HiSeq	Phase_I	364	330	0.906593	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	949	0.43452380952380953	355	0.7215447154471545	137	0.3784530386740331	342	0.5979020979020979	115	0.1517150395778364	C	3.831	-0.035729	0.07497	0.684748	0.150465	ENSG00000143631	ENST00000368799	T	0.07114	3.22	3.31	-1.14	0.09741	.	.	.	.	.	T	0.04634	0.0126	L	0.57536	1.79	0.80722	P	0.0	P	0.46327	0.876	P	0.54312	0.748	T	0.23261	-1.0193	8	0.18710	T	0.47	-3.9699	3.0433	0.06145	0.1908:0.4576:0.0:0.3516	rs56734521	3436	P20930	FILA_HUMAN	A	3436	ENSP00000357789:G3436A	ENSP00000357789:G3436A	G	-	2	0	FLG	150543679	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.597000	0.05713	-0.563000	0.06078	-0.396000	0.06452	GGA	C|0.615;G|0.385	0.385	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152277055	C	G	152277055	3	3	22	1	0	0	0	0	1	0	0	0	5922	855	30	4	1882	4	FLG	1	152277055	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166	152277055	96973566	602	5710			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152277239	152277239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagaccttccccctgaccGgtcacgtgcggactcttggt	10	16	2	2	rs111486002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152277239G>A	ENST00000368799.1	-	3	10158	c.10123C>T	c.(10123-10125)Cgg>Tgg	p.R3375W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3375	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCTGACCGGTCACGTGCG	0.587									Ichthyosis				G|||	106	0.0211661	0.0756	0.0072	5008	,	,		19341	0.001		0.0	False		,,,				2504	0.0				p.R3375W		Atlas-SNP	.											.	FLG	900	.	0			c.C10123T						PASS	.	G	TRP/ARG	153,4253	93.4+/-132.2	4,145,2054	286	306	299		10123	1.8	0	1	dbSNP_132	299	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLG	NM_002016.1	101	4,147,6352	AA,AG,GG		0.0233,3.4725,1.1918	probably-damaging	3375/4062	152277239	155,12851	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGACCGGTCACG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10123C>T	1.37:g.152277239G>A	ENSP00000357789:p.Arg3375Trp	Somatic	443	1	0.00225734		WXS	Illumina HiSeq	Phase_I	385	185	0.480519	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	G	9.323	1.058443	0.19987	0.034725	2.33E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00966	5.49	1.82	1.82	0.25136	.	.	.	.	.	T	0.01454	0.0047	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.51529	-0.8694	9	0.72032	D	0.01	.	7.1799	0.25765	0.0:0.0:1.0:0.0	.	3375	P20930	FILA_HUMAN	W	3375;313	ENSP00000357789:R3375W	ENSP00000357786:R313W	R	-	1	2	FLG	150543863	.	.	0.001000	0.08648	0.001000	0.01503	.	.	1.327000	0.45338	0.454000	0.30748	CGG	G|0.986;A|0.014	0.014	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152277239	G	A	152277239	3	1	22	1	0	0	0	0	1	0	0	0	5922	1115	39	1	2066	1	FLG	1	152277239	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	184	152277239	96973382	603	5711			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152277575	152277575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcagagtgcccgtgacCggctctgtcttcgtgatggg	15	11	3	3	rs79771385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152277575C>T	ENST00000368799.1	-	3	9822	c.9787G>A	c.(9787-9789)Ggt>Agt	p.G3263S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3263	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCGTGACCGGCTCTGTCT	0.587									Ichthyosis				C|||	190	0.0379393	0.1362	0.013	5008	,	,		19484	0.0		0.001	False		,,,				2504	0.0				p.G3263S		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G9787A						scavenged	.	C	SER/GLY	459,3947	218.1+/-236.3	22,415,1766	256	260	259		9787	-5.6	0	1	dbSNP_131	259	10,8590	7.7+/-29.5	0,10,4290	no	missense	FLG	NM_002016.1	56	22,425,6056	TT,TC,CC		0.1163,10.4176,3.606	probably-damaging	3263/4062	152277575	469,12537	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGTGACCGGCTCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9787G>A	1.37:g.152277575C>T	ENSP00000357789:p.Gly3263Ser	Somatic	509	3	0.00589391		WXS	Illumina HiSeq	Phase_I	570	281	0.492982	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	66	0.03021978021978022	62	0.12601626016260162	4	0.011049723756906077	0	0.0	0	0.0	c	10.64	1.407204	0.25378	0.104176	0.001163	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01092	5.35	2.8	-5.6	0.02497	.	.	.	.	.	T	0.00328	0.0010	L	0.32530	0.975	0.80722	P	0.0	P	0.52061	0.95	P	0.45428	0.48	T	0.35425	-0.9789	8	0.14656	T	0.56	.	4.5119	0.11915	0.0:0.2393:0.3104:0.4503	.	3263	P20930	FILA_HUMAN	S	3263;201	ENSP00000357789:G3263S	ENSP00000357786:G201S	G	-	1	0	FLG	150544199	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.225000	0.00270	-1.835000	0.01191	-1.316000	0.01300	GGT	C|0.959;T|0.041	0.041	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152277575	C	T	152277575	3	4	22	1	0	0	0	0	1	0	0	0	5922	652	23	1	2402	1	FLG	1	152277575	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	336	152277575	96973046	604	5712			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152277717	152277717	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactgtcactgtcctggctCacactggatccctggcgcct	9	16	3	0	rs9436066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152277717C>A	ENST00000368799.1	-	3	9680	c.9645G>T	c.(9643-9645)gtG>gtT	p.V3215V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3215	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGGCTCACACTGGATC	0.557									Ichthyosis				A|||	2352	0.469649	0.5212	0.4524	5008	,	,		19788	0.6835		0.173	False		,,,				2504	0.4969				p.V3215V		Atlas-SNP	.											.	FLG	900	.	0			c.G9645T						PASS	.	A		1977,2427		470,1037,695	115	142	133		9645	-5.4	0	1	dbSNP_119	133	1292,7288		130,1032,3128	no	coding-synonymous	FLG	NM_002016.1		600,2069,3823	AA,AC,CC		15.0583,44.891,25.1771		3215/4062	152277717	3269,9715	2202	4290	6492	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGGCTCACACTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9645G>T	1.37:g.152277717C>A		Somatic	512	2	0.00390625		WXS	Illumina HiSeq	Phase_I	415	414	0.99759	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			C|0.695;A|0.305	0.305	strong		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152277717	C	A	152277717	2	1	22	1	0	0	0	0	0	0	0	1	5922	813	29	4		4	FLG	1	152277717	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	142	152277717	96972904	605	5713			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152278689	152278689	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactgtcactgtcctggctCacactggatccctggcgcct	9	16	3	0	rs57672167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152278689C>A	ENST00000368799.1	-	3	8708	c.8673G>T	c.(8671-8673)gtG>gtT	p.V2891V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2891	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGGCTCACACTGGATC	0.552									Ichthyosis				A|||	1985	0.396366	0.3147	0.4337	5008	,	,		31121	0.6101		0.171	False		,,,				2504	0.4918				p.V2891V		Atlas-SNP	.											FLG,NS,carcinoma,-2,1	FLG	900	1	0			c.G8673T						scavenged	.	A		847,3219		243,361,1429	85	137	120		8673	-5.2	0	1	dbSNP_129	120	1434,7156		126,1182,2987	no	coding-synonymous	FLG	NM_002016.1		369,1543,4416	AA,AC,CC		16.6938,20.8313,18.0231		2891/4062	152278689	2281,10375	2033	4295	6328	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGGCTCACACTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8673G>T	1.37:g.152278689C>A		Somatic	705	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			C|0.688;A|0.312	0.312	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152278689	C	A	152278689	2	1	22	1	0	0	0	0	0	0	0	1	5922	813	29	4		4	FLG	1	152278689	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	972	152278689	96971932	606	5714			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152279729	152279729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcccacctgcgagtgtcCagagctgtcggcccgagagg	15	14	0	2	rs3126072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152279729C>T	ENST00000368799.1	-	3	7668	c.7633G>A	c.(7633-7635)Gga>Aga	p.G2545R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2545	Ser-rich.		G -> R (in dbSNP:rs3126072).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGAGTGTCCAGAGCTGTCG	0.577									Ichthyosis				T|||	2378	0.47484	0.5658	0.451	5008	,	,		19229	0.6548		0.173	False		,,,				2504	0.4939				p.G2545R		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G7633A						scavenged	.	T	ARG/GLY	2198,2202	581.0+/-385.3	593,1012,595	204	228	220		7633	0.8	0	1	dbSNP_103	220	1457,7143	750.7+/-407.4	126,1205,2969	no	missense	FLG	NM_002016.1	125	719,2217,3564	TT,TC,CC		16.9419,49.9545,28.1154	benign	2545/4062	152279729	3655,9345	2200	4300	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGTGTCCAGAGCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7633G>A	1.37:g.152279729C>T	ENSP00000357789:p.Gly2545Arg	Somatic	379	4	0.0105541		WXS	Illumina HiSeq	Phase_I	552	550	0.996377	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	882	0.40384615384615385	256	0.5203252032520326	135	0.3729281767955801	358	0.6258741258741258	133	0.17546174142480211	T	2.868	-0.234541	0.05983	0.499545	0.169419	ENSG00000143631	ENST00000368799	T	0.01705	4.68	1.97	0.755	0.18415	.	.	.	.	.	T	0.00144	0.0004	N	0.00265	-1.74	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	8	0.14252	T	0.57	.	4.4439	0.11588	0.0:0.4317:0.0:0.5682	.	2545	P20930	FILA_HUMAN	R	2545	ENSP00000357789:G2545R	ENSP00000357789:G2545R	G	-	1	0	FLG	150546353	0.408000	0.25360	0.001000	0.08648	0.010000	0.07245	-0.243000	0.08915	-0.360000	0.08138	-0.848000	0.03037	GGA	C|0.682;T|0.318	0.318	strong		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279729	C	T	152279729	3	4	22	1	0	0	0	0	1	0	0	0	5922	603	21	2	4556	2	FLG	1	152279729	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1040	152279729	96970892	607	5715			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152279841	152279841	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcacttctggatcctgaGtgcccatgggaggcatcaga	12	11	2	2	rs3126074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152279841G>C	ENST00000368799.1	-	3	7556	c.7521C>G	c.(7519-7521)caC>caG	p.H2507Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2507	Ser-rich.		H -> Q (in dbSNP:rs3126074).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGAGTGCCCATGGG	0.552									Ichthyosis				C|||	2315	0.46226	0.5189	0.451	5008	,	,		20836	0.6548		0.172	False		,,,				2504	0.4939				p.H2507Q		Atlas-SNP	.											.	FLG	900	.	0			c.C7521G						PASS	.	C	GLN/HIS	2053,2353	607.9+/-391.1	471,1111,621	342	327	332		7521	-4.9	0	1	dbSNP_103	332	1456,7144	750.9+/-407.4	126,1204,2970	no	missense	FLG	NM_002016.1	24	597,2315,3591	CC,CG,GG		16.9302,46.5956,26.9799	benign	2507/4062	152279841	3509,9497	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCCTGAGTGCCCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7521C>G	1.37:g.152279841G>C	ENSP00000357789:p.His2507Gln	Somatic	368	0	0		WXS	Illumina HiSeq	Phase_I	476	476	1	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	865	0.39606227106227104	239	0.48577235772357724	136	0.3756906077348066	358	0.6258741258741258	132	0.1741424802110818	C	2.091	-0.408310	0.04832	0.465956	0.169302	ENSG00000143631	ENST00000368799	T	0.04015	3.73	2.43	-4.87	0.03123	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	8	0.11794	T	0.64	.	8.373	0.32425	0.1409:0.2981:0.5611:0.0	rs3126074	2507	P20930	FILA_HUMAN	Q	2507	ENSP00000357789:H2507Q	ENSP00000357789:H2507Q	H	-	3	2	FLG	150546465	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.955000	0.00027	-1.444000	0.01950	-2.178000	0.00318	CAC	G|0.693;C|0.307	0.307	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152279841	G	C	152279841	3	2	22	1	0	0	0	0	1	0	0	0	5922	1020	36	4	4668	4	FLG	1	152279841	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112	152279841	96970780	608	5716			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280471	152280471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcctgattgtctggagctCtctgcagagtgcccatgacc	12	12	2	3	rs78179835		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280471C>G	ENST00000368799.1	-	3	6926	c.6891G>C	c.(6889-6891)gaG>gaC	p.E2297D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2297	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGGAGCTCTCTGCAGAGT	0.547									Ichthyosis																												p.E2297D		Atlas-SNP	.											.	FLG	900	.	0			c.G6891C						PASS	.	C	ASP/GLU	403,4003		10,383,1810	272	285	281		6891	-4	0	1	dbSNP_131	281	921,7679		0,921,3379	no	missense	FLG	NM_002016.1	45	10,1304,5189	GG,GC,CC		10.7093,9.1466,10.1799	benign	2297/4062	152280471	1324,11682	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGAGCTCTCTGCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6891G>C	1.37:g.152280471C>G	ENSP00000357789:p.Glu2297Asp	Somatic	714	3	0.00420168		WXS	Illumina HiSeq	Phase_I	799	460	0.57572	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.465	0.086112	0.08583	0.091466	0.107093	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.00760	5.73	3.12	-3.95	0.04118	.	.	.	.	.	T	0.00109	0.0003	N	0.03209	-0.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	8	0.02654	T	1	.	8.7493	0.34605	0.1106:0.6338:0.2556:0.0	.	2297	P20930	FILA_HUMAN	D	2297;207	ENSP00000357789:E2297D	ENSP00000271820:E207D	E	-	3	2	FLG	150547095	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.925000	0.03992	-0.492000	0.06687	-1.941000	0.00496	GAG	.	.	weak		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280471	C	G	152280471	3	3	22	1	0	0	0	0	1	0	0	0	5922	912	32	4	5298	4	FLG	1	152280471	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	630	152280471	96970150	609	5717			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280614	152280614	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatcttctgagtgtccctCactgtcactgtcctggctaa	8	12	4	2	rs3120645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280614C>G	ENST00000368799.1	-	3	6783	c.6748G>C	c.(6748-6750)Gag>Cag	p.E2250Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2250	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTCACTGTCACTG	0.592									Ichthyosis																												p.E2250Q		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,+2,1	FLG	900	1	0			c.G6748C						scavenged	.						203	203	203					1																	152280614		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCCCTCACTGTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6748G>C	1.37:g.152280614C>G	ENSP00000357789:p.Glu2250Gln	Somatic	446	0	0		WXS	Illumina HiSeq	Phase_I	495	20	0.040404	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459945	0.12342	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	3.75	0.494	0.16884	.	.	.	.	.	T	0.01454	0.0047	N	0.13043	0.29	0.09310	N	1	P	0.43542	0.81	B	0.39503	0.301	T	0.47100	-0.9143	9	0.30078	T	0.28	.	6.151	0.20313	0.1996:0.4103:0.3901:0.0	.	2250	P20930	FILA_HUMAN	Q	2250	ENSP00000357789:E2250Q	ENSP00000357789:E2250Q	E	-	1	0	FLG	150547238	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	-0.121000	0.10643	0.707000	0.31934	-0.447000	0.05616	GAG	C|0.996;G|0.003;T|0.001	0.003	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280614	C	G	152280614	3	3	22	1	0	0	0	0	1	0	0	0	5922	835	29	4	5441	4	FLG	1	152280614	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	143	152280614	96970007	610	5718			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280691	152280691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgattgtccctggcccaccAgtgagtgtctagagctgtcg	12	11	1	3	rs117945779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280691A>T	ENST00000368799.1	-	3	6706	c.6671T>A	c.(6670-6672)cTg>cAg	p.L2224Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCCACCAGTGAGTGTCT	0.542									Ichthyosis				-|||	959	0.191494	0.1936	0.1873	5008	,	,		22319	0.3026		0.0706	False		,,,				2504	0.2014				p.L2224Q		Atlas-SNP	.											FLG,NS,malignant_melanoma,+1,1	FLG	900	1	0			c.T6671A						scavenged	.						260	255	257					1																	152280691		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCACCAGTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6671T>A	1.37:g.152280691A>T	ENSP00000357789:p.Leu2224Gln	Somatic	479	0	0		WXS	Illumina HiSeq	Phase_I	568	91	0.160211	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	2.028	-0.423196	0.04734	.	.	ENSG00000143631	ENST00000368799	T	0.02656	4.21	0.883	-0.332	0.12675	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.08381	T	0.77	.	1.4068	0.02283	0.3248:0.2503:0.0:0.4249	.	2224	P20930	FILA_HUMAN	Q	2224	ENSP00000357789:L2224Q	ENSP00000357789:L2224Q	L	-	2	0	FLG	150547315	0.313000	0.24554	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-0.732000	0.04856	-0.721000	0.03606	CTG	.	.	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280691	A	T	152280691	3	4	22	1	0	0	0	0	1	0	0	0	5922	188	7	5	5518	5	FLG	1	152280691	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	77	152280691	96969930	611	5719			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280736	152280736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaggaagcttcatgatgaTgcgaccctgagtgcctagag	13	8	1	5	rs66977240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280736T>C	ENST00000368799.1	-	3	6661	c.6626A>G	c.(6625-6627)cAt>cGt	p.H2209R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2209	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGATGATGCGACCCTGA	0.562									Ichthyosis																												p.H2209R		Atlas-SNP	.											.	FLG	900	.	0			c.A6626G						PASS	.						397	353	368					1																	152280736		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGATGATGCGACC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6626A>G	1.37:g.152280736T>C	ENSP00000357789:p.His2209Arg	Somatic	451	0	0		WXS	Illumina HiSeq	Phase_I	657	218	0.331811	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	1.757	-0.487824	0.04352	.	.	ENSG00000143631	ENST00000368799	T	0.02890	4.12	1.98	-0.241	0.13043	.	.	.	.	.	T	0.00300	0.0009	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34279	-0.9835	9	0.09843	T	0.71	.	5.4443	0.16527	0.0:0.4996:0.0:0.5004	.	2209	P20930	FILA_HUMAN	R	2209	ENSP00000357789:H2209R	ENSP00000357789:H2209R	H	-	2	0	FLG	150547360	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.263000	0.00136	-0.710000	0.05001	-1.436000	0.01078	CAT	T|0.865;C|0.135	0.135	strong		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152280736	T	C	152280736	3	2	22	1	0	0	0	0	1	0	0	0	5922	1464	51	2	5563	2	FLG	1	152280736	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45	152280736	96969885	612	5720			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280759	152280759	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctgagtgcctagagccAtctcctgattgttccttgtc	9	13	1	3	rs2338554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280759A>G	ENST00000368799.1	-	3	6638	c.6603T>C	c.(6601-6603)gaT>gaC	p.D2201D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2201	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTAGAGCCATCTCCTGATT	0.552									Ichthyosis				-|||	1839	0.367212	0.472	0.3501	5008	,	,		27298	0.4454		0.1531	False		,,,				2504	0.3773				p.D2201D		Atlas-SNP	.											FLG,NS,carcinoma,-2,2	FLG	900	2	0			c.T6603C						PASS	.	G		1706,2700		229,1248,726	444	388	407		6603	-4.9	0	1	dbSNP_100	407	945,7655		0,945,3355	no	coding-synonymous	FLG	NM_002016.1		229,2193,4081	GG,GA,AA		10.9884,38.7199,20.3829		2201/4062	152280759	2651,10355	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGAGCCATCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6603T>C	1.37:g.152280759A>G		Somatic	439	0	0		WXS	Illumina HiSeq	Phase_I	710	707	0.995775	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.718;G|0.282	0.282	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280759	A	G	152280759	2	3	22	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152280759	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23	152280759	96969862	613	5721			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280782	152280782	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgattgttccttgtcatAtgtttttctgcttgcacttc					rs2184953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280782A>G	ENST00000368799.1	-	3	6615	c.6580T>C	c.(6580-6582)Tat>Cat	p.Y2194H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2194	Ser-rich.		Y -> H (in dbSNP:rs2184953).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCATATGTTTTTCTG	0.547									Ichthyosis				-|||	2703	0.539736	0.7897	0.4683	5008	,	,		29126	0.6607		0.1759	False		,,,				2504	0.502				p.Y2194H		Atlas-SNP	.											.	FLG	900	.	0			c.T6580C						PASS	.						483	407	432					1																	152280782		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGTCATATGTTTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6580T>C	1.37:g.152280782A>G	ENSP00000357789:p.Tyr2194His	Somatic	423	0	0		WXS	Illumina HiSeq	Phase_I	767	767	1	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1006	0.4606227106227106	366	0.7439024390243902	142	0.39226519337016574	362	0.6328671328671329	136	0.17941952506596306	g	2.593	-0.294672	0.05568	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.99	-5.98	0.02220	.	.	.	.	.	T	0.00241	0.0007	N	0.02011	-0.69	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	8	0.45353	T	0.12	.	4.3415	0.11112	0.287:0.0:0.31:0.403	rs2184953;rs2184953	2194	P20930	FILA_HUMAN	H	2194	ENSP00000357789:Y2194H	ENSP00000357789:Y2194H	Y	-	1	0	FLG	150547406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.749000	0.00793	-2.890000	0.00315	-2.627000	0.00155	TAT	A|0.483;G|0.517	0.517	strong		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280782	A	G	152280782	3	3	22	1	0	0	0	0	1	0	0	0	5922	449	16	2	5609	2	FLG	1	152280782	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23	152280782	96969839	614	5722	112	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280788	152280788	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttccttgtcatatgtttTtctgcttgcacttctggatc					rs66954353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280788T>G	ENST00000368799.1	-	3	6609	c.6574A>C	c.(6574-6576)Aaa>Caa	p.K2192Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2192	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATATGTTTTTCTGCTTGCA	0.532									Ichthyosis																												p.K2192Q		Atlas-SNP	.											.	FLG	900	.	0			c.A6574C						PASS	.	G	GLN/LYS	1049,3357		0,1049,1154	476	402	427		6574	2	0	1	dbSNP_130	427	819,7781		4,811,3485	yes	missense	FLG	NM_002016.1	53	4,1860,4639	GG,GT,TT		9.5233,23.8084,14.3626	benign	2192/4062	152280788	1868,11138	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATGTTTTTCTGCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6574A>C	1.37:g.152280788T>G	ENSP00000357789:p.Lys2192Gln	Somatic	417	0	0		WXS	Illumina HiSeq	Phase_I	774	367	0.47416	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	5.601	0.295698	0.10622	0.238084	0.095233	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.99	1.99	0.26369	.	.	.	.	.	T	0.00144	0.0004	N	0.00146	-1.995	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13548	-1.0505	8	0.15066	T	0.55	.	5.49	0.16771	0.0:0.2239:0.546:0.2301	.	2192	P20930	FILA_HUMAN	Q	2192	ENSP00000357789:K2192Q	ENSP00000357789:K2192Q	K	-	1	0	FLG	150547412	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.245000	0.18142	-0.043000	0.13513	-0.332000	0.08345	AAA	T|0.500;G|0.500	0.500	strong		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280788	T	G	152280788	3	3	22	1	0	0	0	0	1	0	0	0	5922	1850	64	5	5615	5	FLG	1	152280788	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6	152280788	96969833	615	5723	112	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280864	152280864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtggtgtggctgtgatgAgaccctgagtgtccagacct	15	8	0	4	rs2184954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280864A>G	ENST00000368799.1	-	3	6533	c.6498T>C	c.(6496-6498)tcT>tcC	p.S2166S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2166	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTGATGAGACCCTGAGT	0.557									Ichthyosis				-|||	2322	0.463658	0.5204	0.4524	5008	,	,		24600	0.6577		0.172	False		,,,				2504	0.4949				p.S2166S		Atlas-SNP	.											.	FLG	900	.	0			c.T6498C						PASS	.	G		2056,2350	607.5+/-391.0	471,1114,618	381	336	351		6498	-4.8	0	1	dbSNP_96	351	1453,7145	750.6+/-407.4	125,1203,2971	no	coding-synonymous	FLG	NM_002016.1		596,2317,3589	GG,GA,AA		16.8993,46.6636,26.984		2166/4062	152280864	3509,9495	2203	4299	6502	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTGATGAGACCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6498T>C	1.37:g.152280864A>G		Somatic	428	0	0		WXS	Illumina HiSeq	Phase_I	676	674	0.997041	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	weak		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280864	A	G	152280864	2	3	22	1	0	0	0	0	0	0	0	1	5922	291	11	3		3	FLG	1	152280864	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76	152280864	96969757	616	5724			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280900	152280900	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctatctaccgattgctcTtggtgggacccctgtcttcc					rs74129452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280900T>G	ENST00000368799.1	-	3	6497	c.6462A>C	c.(6460-6462)caA>caC	p.Q2154H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2154	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCTTGGTGGGACC	0.592									Ichthyosis				-|||	1722	0.34385	0.3843	0.3487	5008	,	,		25148	0.4444		0.1541	False		,,,				2504	0.3773				p.Q2154H		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,-2,1	FLG	900	1	0			c.A6462C						PASS	.						380	322	342					1																	152280900		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGCTCTTGGTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6462A>C	1.37:g.152280900T>G	ENSP00000357789:p.Gln2154His	Somatic	450	1	0.00222222		WXS	Illumina HiSeq	Phase_I	783	344	0.439336	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.361	-0.346581	0.05208	.	.	ENSG00000143631	ENST00000368799	T	0.03524	3.9	2.59	-5.18	0.02840	.	.	.	.	.	T	0.00178	0.0005	N	0.00074	-2.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49943	-0.8885	9	0.38643	T	0.18	.	0.1659	0.00108	0.2732:0.2266:0.1592:0.341	.	2154	P20930	FILA_HUMAN	H	2154	ENSP00000357789:Q2154H	ENSP00000357789:Q2154H	Q	-	3	2	FLG	150547524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.334000	0.00508	-3.813000	0.00104	-2.053000	0.00404	CAA	T|0.872;G|0.128	0.128	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280900	T	G	152280900	3	3	22	1	0	0	0	0	1	0	0	0	5922	1606	56	5	5727	5	FLG	1	152280900	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36	152280900	96969721	617	5725	113	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152280907	152280907	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaccgattgctcttggtggGacccctgtcttcctcctctg					rs77249082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152280907G>T	ENST00000368799.1	-	3	6490	c.6455C>A	c.(6454-6456)tCc>tAc	p.S2152Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2152	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGTGGGACCCCTGTCT	0.587									Ichthyosis																												p.S2152Y		Atlas-SNP	.											.	FLG	900	.	0			c.C6455A						PASS	.	G	TYR/SER	1189,3217		0,1189,1014	385	319	341		6455	1	0	1	dbSNP_131	341	14,8586		0,14,4286	no	missense	FLG	NM_002016.1	144	0,1203,5300	TT,TG,GG		0.1628,26.9859,9.2496	probably-damaging	2152/4062	152280907	1203,11803	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGTGGGACCCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6455C>A	1.37:g.152280907G>T	ENSP00000357789:p.Ser2152Tyr	Somatic	462	2	0.004329		WXS	Illumina HiSeq	Phase_I	820	371	0.452439	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.230	0.041569	0.08196	0.269859	0.001628	ENSG00000143631	ENST00000368799	T	0.03801	3.8	3.02	1.01	0.19927	.	.	.	.	.	T	0.03651	0.0104	L	0.55103	1.725	0.09310	N	1	D	0.59357	0.985	P	0.56278	0.795	T	0.36040	-0.9764	9	0.39692	T	0.17	.	4.3236	0.11029	0.1405:0.2356:0.6239:0.0	.	2152	P20930	FILA_HUMAN	Y	2152	ENSP00000357789:S2152Y	ENSP00000357789:S2152Y	S	-	2	0	FLG	150547531	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.014000	0.03641	0.122000	0.18314	0.485000	0.47835	TCC	G|0.500;T|0.500	0.500	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280907	G	T	152280907	3	4	22	1	0	0	0	0	1	0	0	0	5922	1174	41	4	5734	4	FLG	1	152280907	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7	152280907	96969714	618	5726	113	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281007	152281007	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtcttgtgcctgatcatAatgggatccttgtcttcctc					rs7512553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281007A>G	ENST00000368799.1	-	3	6390	c.6355T>C	c.(6355-6357)Tat>Cat	p.Y2119H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2119	Ser-rich.		Y -> H (in dbSNP:rs7512553).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATCATAATGGGATCCT	0.572									Ichthyosis				-|||	1641	0.327676	0.3843	0.3357	5008	,	,		29956	0.4355		0.1282	False		,,,				2504	0.3395				p.Y2119H		Atlas-SNP	.											FLG,brain,glioma,+2,1	FLG	900	1	0			c.T6355C						PASS	.	G	HIS/TYR	1451,2955		0,1451,752	349	263	292		6355	1.3	0	1	dbSNP_116	292	1089,7511		0,1089,3211	yes	missense	FLG	NM_002016.1	83	0,2540,3963	GG,GA,AA		12.6628,32.9324,19.5294	benign	2119/4062	152281007	2540,10466	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GATCATAATGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6355T>C	1.37:g.152281007A>G	ENSP00000357789:p.Tyr2119His	Somatic	482	1	0.00207469		WXS	Illumina HiSeq	Phase_I	974	509	0.522587	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.212	0.038141	0.08148	0.329324	0.126628	ENSG00000143631	ENST00000368799	T	0.02345	4.33	3.26	1.28	0.21552	.	.	.	.	.	T	0.00178	0.0005	N	0.00049	-2.42	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.14656	T	0.56	.	3.5172	0.07728	0.2299:0.0:0.5769:0.1931	.	2119	P20930	FILA_HUMAN	H	2119	ENSP00000357789:Y2119H	ENSP00000357789:Y2119H	Y	-	1	0	FLG	150547631	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.121000	0.15667	-0.057000	0.13199	-3.035000	0.00072	TAT	A|0.030;G|0.970	0.970	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281007	A	G	152281007	3	3	22	1	0	0	0	0	1	0	0	0	5922	362	13	2	5834	2	FLG	1	152281007	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	100	152281007	96969614	619	5727	114	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281008	152281008	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcttgtgcctgatcataAtgggatccttgtcttcctcc					rs7512554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281008A>G	ENST00000368799.1	-	3	6389	c.6354T>C	c.(6352-6354)caT>caC	p.H2118H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2118	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATCATAATGGGATCCTT	0.572									Ichthyosis				-|||	1641	0.327676	0.3843	0.3357	5008	,	,		29299	0.4355		0.1282	False		,,,				2504	0.3395				p.H2118H		Atlas-SNP	.											.	FLG	900	.	0			c.T6354C						PASS	.	G		1446,2960		0,1446,757	349	263	292		6354	-0.6	0	1	dbSNP_116	292	1083,7517		0,1083,3217	no	coding-synonymous	FLG	NM_002016.1		0,2529,3974	GG,GA,AA		12.593,32.8189,19.4449		2118/4062	152281008	2529,10477	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATCATAATGGGAT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6354T>C	1.37:g.152281008A>G		Somatic	480	2	0.00416667		WXS	Illumina HiSeq	Phase_I	969	500	0.515996	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.500;G|0.500	0.500	weak		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281008	A	G	152281008	2	3	22	1	0	0	0	0	0	0	0	1	5922	98	4	2		2	FLG	1	152281008	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	152281008	96969613	620	5728	114	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281039	152281039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttcctccagtgctgggcGcagactgtccatgggtggac	14	12	1	1	rs7522925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281039G>A	ENST00000368799.1	-	3	6358	c.6323C>T	c.(6322-6324)gCg>gTg	p.A2108V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2108	Ser-rich.		A -> V (in dbSNP:rs7522925).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCTGGGCGCAGACTGTCC	0.567									Ichthyosis																												p.A2108V		Atlas-SNP	.											.	FLG	900	.	0			c.C6323T						PASS	.	G	VAL/ALA	1572,2834		0,1572,631	307	228	255		6323	-6.7	0	1	dbSNP_116	255	1153,7447		0,1153,3147	yes	missense	FLG	NM_002016.1	64	0,2725,3778	AA,AG,GG		13.407,35.6786,20.9519	benign	2108/4062	152281039	2725,10281	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGGGCGCAGACT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6323C>T	1.37:g.152281039G>A	ENSP00000357789:p.Ala2108Val	Somatic	517	1	0.00193424		WXS	Illumina HiSeq	Phase_I	952	502	0.527311	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	635	0.2907509157509158	187	0.3800813008130081	109	0.3011049723756906	241	0.42132867132867136	98	0.12928759894459102	c	6.463	0.453669	0.12283	0.356786	0.13407	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.37	-6.74	0.01743	.	.	.	.	.	T	0.00384	0.0012	L	0.29908	0.895	0.09310	N	1	B	0.31459	0.324	B	0.18263	0.021	T	0.44757	-0.9307	9	0.28530	T	0.3	.	6.0989	0.20035	0.0:0.1746:0.3926:0.4328	rs7522925;rs7522925	2108	P20930	FILA_HUMAN	V	2108	ENSP00000357789:A2108V	ENSP00000357789:A2108V	A	-	2	0	FLG	150547663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.796000	0.00364	-1.346000	0.02211	-1.980000	0.00456	GCG	G|0.716;A|0.284	0.284	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152281039	G	A	152281039	3	1	22	1	0	0	0	0	1	0	0	0	5922	1087	38	1	5866	1	FLG	1	152281039	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31	152281039	96969582	621	5729			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281136	152281136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccctgactggccacgtgCggactctttgtggctctgct	11	14	2	1	rs78125326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281136C>T	ENST00000368799.1	-	3	6261	c.6226G>A	c.(6226-6228)Gca>Aca	p.A2076T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2076	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.567									Ichthyosis				-|||	353	0.0704872	0.2496	0.0245	5008	,	,		29453	0.003		0.003	False		,,,				2504	0.0				p.A2076T		Atlas-SNP	.											.	FLG	900	.	0			c.G6226A						PASS	.	C	THR/ALA	898,3508		0,898,1305	315	259	278		6226	-4.7	0	1	dbSNP_131	278	11,8589		0,11,4289	no	missense	FLG	NM_002016.1	58	0,909,5594	TT,TC,CC		0.1279,20.3813,6.9891	benign	2076/4062	152281136	909,12097	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CACGTGCGGACTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6226G>A	1.37:g.152281136C>T	ENSP00000357789:p.Ala2076Thr	Somatic	482	0	0		WXS	Illumina HiSeq	Phase_I	915	460	0.502732	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	125	0.05723443223443223	114	0.23170731707317074	9	0.024861878453038673	1	0.0017482517482517483	1	0.0013192612137203166	c	4.927	0.172270	0.09391	0.203813	0.001279	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.33	-4.66	0.03329	.	.	.	.	.	T	0.00241	0.0007	N	0.11064	0.09	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.44360	-0.9333	9	0.13108	T	0.6	.	1.7607	0.02992	0.1438:0.1924:0.1433:0.5205	.	2076	P20930	FILA_HUMAN	T	2076	ENSP00000357789:A2076T	ENSP00000357789:A2076T	A	-	1	0	FLG	150547760	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.201000	0.01236	-2.043000	0.00913	-0.330000	0.08379	GCA	C|0.942;T|0.058	0.058	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281136	C	T	152281136	3	4	22	1	0	0	0	0	1	0	0	0	5922	768	27	1	5963	1	FLG	1	152281136	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97	152281136	96969485	622	5730			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281172	152281172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgatggggcccagcttTtccctgtgctgacactgact	11	13	0	3	rs74129455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281172T>G	ENST00000368799.1	-	3	6225	c.6190A>C	c.(6190-6192)Aaa>Caa	p.K2064Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2064	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCTTTTCCCTGTGCT	0.562									Ichthyosis																												p.K2064Q		Atlas-SNP	.											FLG,lower_third,carcinoma,+2,1	FLG	900	1	0			c.A6190C						PASS	.	G	GLN/LYS	1356,3050		0,1356,847	396	319	345		6190	-5.2	0	1	dbSNP_130	345	13,8587		0,13,4287	yes	missense	FLG	NM_002016.1	53	0,1369,5134	GG,GT,TT		0.1512,30.7762,10.5259	benign	2064/4062	152281172	1369,11637	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CAGCTTTTCCCTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6190A>C	1.37:g.152281172T>G	ENSP00000357789:p.Lys2064Gln	Somatic	396	0	0		WXS	Illumina HiSeq	Phase_I	740	360	0.486486	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.971	0.180348	0.09443	0.307762	0.001512	ENSG00000143631	ENST00000368799	T	0.00864	5.6	2.61	-5.22	0.02806	.	.	.	.	.	T	0.00039	0.0001	N	0.00053	-2.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34428	-0.9829	9	0.02654	T	1	.	8.5592	0.33501	0.0:0.112:0.1925:0.6954	.	2064	P20930	FILA_HUMAN	Q	2064	ENSP00000357789:K2064Q	ENSP00000357789:K2064Q	K	-	1	0	FLG	150547796	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.771000	0.00370	-2.303000	0.00656	-0.332000	0.08345	AAA	T|0.500;G|0.500	0.500	strong		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281172	T	G	152281172	3	3	22	1	0	0	0	0	1	0	0	0	5922	1850	64	5	5999	5	FLG	1	152281172	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36	152281172	96969449	623	5731			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281228	152281228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaatgtccctcactgtcaCtggcctgactaccactgtac	7	15	2	2	rs7546186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281228C>G	ENST00000368799.1	-	3	6169	c.6134G>C	c.(6133-6135)aGt>aCt	p.S2045T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2045	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGGCCTGACT	0.562									Ichthyosis																												p.S2045T		Atlas-SNP	.											.	FLG	900	.	0			c.G6134C						PASS	.	A	THR/SER	1445,2961		0,1445,758	497	422	448		6134	2.4	0	1	dbSNP_116	448	1127,7467		0,1127,3170	no	missense	FLG	NM_002016.1	58	0,2572,3928	GG,GC,CC		13.1138,32.7962,19.7846	possibly-damaging	2045/4062	152281228	2572,10428	2203	4297	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGTCACTGGCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6134G>C	1.37:g.152281228C>G	ENSP00000357789:p.Ser2045Thr	Somatic	288	0	0		WXS	Illumina HiSeq	Phase_I	537	270	0.502793	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.788	0.146596	0.09134	0.327962	0.131138	ENSG00000143631	ENST00000368799	T	0.08008	3.14	3.29	2.37	0.29283	.	.	.	.	.	T	0.06371	0.0164	M	0.66939	2.045	0.09310	N	1	P	0.47677	0.899	P	0.53266	0.722	T	0.27468	-1.0073	9	0.15499	T	0.54	-11.6761	8.0203	0.30406	0.2436:0.7564:0.0:0.0	rs7546186	2045	P20930	FILA_HUMAN	T	2045	ENSP00000357789:S2045T	ENSP00000357789:S2045T	S	-	2	0	FLG	150547852	0.044000	0.20184	0.010000	0.14722	0.001000	0.01503	1.514000	0.35834	0.726000	0.32339	-0.333000	0.08304	AGT	C|0.969;G|0.031	0.031	strong		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281228	C	G	152281228	3	3	22	1	0	0	0	0	1	0	0	0	5922	565	20	4	6055	4	FLG	1	152281228	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56	152281228	96969393	624	5732			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281290	152281290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcagatgaagcttgtccAtgcccaatgcctgagtgtct	10	11	1	3	rs80353812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281290A>G	ENST00000368799.1	-	3	6107	c.6072T>C	c.(6070-6072)caT>caC	p.H2024H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2024	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCATGCCCAATGC	0.537									Ichthyosis				-|||	1643	0.328075	0.385	0.3343	5008	,	,		28088	0.4355		0.1292	False		,,,				2504	0.3405				p.H2024H		Atlas-SNP	.											.	FLG	900	.	0			c.T6072C						PASS	.	G		1156,3250		0,1156,1047	624	521	556		6072	-6.7	0	1	dbSNP_131	556	1085,7515		0,1085,3215	no	coding-synonymous	FLG	NM_002016.1		0,2241,4262	GG,GA,AA		12.6163,26.2369,17.2305		2024/4062	152281290	2241,10765	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGTCCATGCCCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6072T>C	1.37:g.152281290A>G		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	505	246	0.487129	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.974;G|0.026	0.026	strong		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281290	A	G	152281290	2	3	22	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152281290	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	62	152281290	96969331	625	5733			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281304	152281304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccatgcccaatgcctgAgtgtctggagctgtctgctg	12	11	2	1	rs7512857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281304A>C	ENST00000368799.1	-	3	6093	c.6058T>G	c.(6058-6060)Tca>Gca	p.S2020A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2020	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAATGCCTGAGTGTCTGGAG	0.547									Ichthyosis																												p.S2020A		Atlas-SNP	.											.	FLG	900	.	0			c.T6058G						PASS	.	A	ALA/SER	1440,2966		0,1440,763	635	522	560		6058	1.1	0	1	dbSNP_116	560	1143,7457		0,1143,3157	no	missense	FLG	NM_002016.1	99	0,2583,3920	CC,CA,AA		13.2907,32.6827,19.8601	probably-damaging	2020/4062	152281304	2583,10423	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCCTGAGTGTCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6058T>G	1.37:g.152281304A>C	ENSP00000357789:p.Ser2020Ala	Somatic	248	1	0.00403226		WXS	Illumina HiSeq	Phase_I	512	230	0.449219	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	6.327	0.428418	0.11987	0.326827	0.132907	ENSG00000143631	ENST00000368799	T	0.08807	3.05	3.79	1.13	0.20643	.	.	.	.	.	T	0.07999	0.0200	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.64776	0.929	T	0.14868	-1.0457	9	0.35671	T	0.21	.	2.8858	0.05661	0.5641:0.2519:0.184:0.0	rs7512857;rs7512857	2020	P20930	FILA_HUMAN	A	2020	ENSP00000357789:S2020A	ENSP00000357789:S2020A	S	-	1	0	FLG	150547928	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.391000	0.20784	0.103000	0.17682	0.477000	0.44152	TCA	A|0.968;C|0.032	0.032	strong		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152281304	A	C	152281304	3	2	22	1	0	0	0	0	1	0	0	0	5922	304	11	5	6131	5	FLG	1	152281304	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14	152281304	96969317	626	5734			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152281523	152281523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatctcttgactgctcccAagcagatccaagatggtttc	8	13	1	3	rs80059102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152281523A>C	ENST00000368799.1	-	3	5874	c.5839T>G	c.(5839-5841)Tgg>Ggg	p.W1947G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1947	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCCAAGCAGATCCA	0.572									Ichthyosis																												p.W1947G		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.T5839G						scavenged	.						253	240	245					1																	152281523		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTCCCAAGCAGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5839T>G	1.37:g.152281523A>C	ENSP00000357789:p.Trp1947Gly	Somatic	425	2	0.00470588		WXS	Illumina HiSeq	Phase_I	859	325	0.378347	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	0.932	-0.712374	0.03206	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	2.54	0.616	0.17613	.	.	.	.	.	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41627	-0.9498	9	0.20519	T	0.43	.	5.0022	0.14269	0.3067:0.0:0.6933:0.0	.	1947	P20930	FILA_HUMAN	G	1947	ENSP00000357789:W1947G	ENSP00000357789:W1947G	W	-	1	0	FLG	150548147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.553000	0.06012	0.161000	0.19458	-0.219000	0.12488	TGG	A|0.917;C|0.081;G|0.002	0.081	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152281523	A	C	152281523	3	2	22	1	0	0	0	0	1	0	0	0	5922	130	5	5	6350	5	FLG	1	152281523	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	219	152281523	96969098	627	5735			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152282113	152282113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctgactggccacgtgtgGactcttggtggctctgctga	13	13	2	2	rs3120647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152282113G>A	ENST00000368799.1	-	3	5284	c.5249C>T	c.(5248-5250)tCc>tTc	p.S1750F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1750	Ser-rich.		S -> F (in dbSNP:rs3120647).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACGTGTGGACTCTTGGTG	0.602									Ichthyosis				G|||	548	0.109425	0.3979	0.0303	5008	,	,		19409	0.0		0.001	False		,,,				2504	0.0				p.S1750F		Atlas-SNP	.											.	FLG	900	.	0			c.C5249T						PASS	.	G	PHE/SER	1445,2961	467.0+/-354.7	227,991,985	201	207	205		5249	3.9	0	1	dbSNP_103	205	14,8586	9.8+/-36.6	0,14,4286	no	missense	FLG	NM_002016.1	155	227,1005,5271	AA,AG,GG		0.1628,32.7962,11.2179	probably-damaging	1750/4062	152282113	1459,11547	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGTGTGGACTCTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5249C>T	1.37:g.152282113G>A	ENSP00000357789:p.Ser1750Phe	Somatic	464	3	0.00646552		WXS	Illumina HiSeq	Phase_I	467	464	0.993576	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	184	0.08424908424908426	173	0.3516260162601626	11	0.03038674033149171	0	0.0	0	0.0	G	11.13	1.546902	0.27652	0.327962	0.001628	ENSG00000143631	ENST00000368799	T	0.02421	4.3	3.93	3.93	0.45458	.	.	.	.	.	T	0.08582	0.0213	M	0.82323	2.585	0.80722	P	0.0	D	0.61697	0.99	D	0.71656	0.974	T	0.01504	-1.1338	8	0.54805	T	0.06	1.0E-4	11.86	0.52461	0.0:0.0:1.0:0.0	rs57870089	1750	P20930	FILA_HUMAN	F	1750	ENSP00000357789:S1750F	ENSP00000357789:S1750F	S	-	2	0	FLG	150548737	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.005000	0.13129	1.891000	0.54761	0.461000	0.40582	TCC	G|0.884;A|0.116	0.116	strong		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152282113	G	A	152282113	3	1	22	1	0	0	0	0	1	0	0	0	5922	1174	41	2	6940	2	FLG	1	152282113	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	590	152282113	96968508	628	5736			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152282899	152282899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccgggtgtccacgaatgGtgtcctgaccgtcttgggat	13	12	1	1	rs3120648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152282899G>T	ENST00000368799.1	-	3	4498	c.4463C>A	c.(4462-4464)aCc>aAc	p.T1488N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1488	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACGAATGGTGTCCTGACC	0.582									Ichthyosis				G|||	402	0.0802716	0.2905	0.0245	5008	,	,		21397	0.0		0.001	False		,,,				2504	0.0				p.T1488N		Atlas-SNP	.											.	FLG	900	.	0			c.C4463A						PASS	.	G	ASN/THR	1035,3371	381.1+/-324.0	111,813,1279	386	372	377		4463	-2.2	0	1	dbSNP_103	377	10,8590	7.7+/-29.5	0,10,4290	no	missense	FLG	NM_002016.1	65	111,823,5569	TT,TG,GG		0.1163,23.4907,8.0348	benign	1488/4062	152282899	1045,11961	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGAATGGTGTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4463C>A	1.37:g.152282899G>T	ENSP00000357789:p.Thr1488Asn	Somatic	461	0	0		WXS	Illumina HiSeq	Phase_I	424	423	0.997642	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	141	0.06456043956043957	132	0.2682926829268293	9	0.024861878453038673	0	0.0	0	0.0	G	9.042	0.989984	0.18966	0.234907	0.001163	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.12	-2.23	0.06930	.	.	.	.	.	T	0.00666	0.0022	M	0.78223	2.4	0.80722	P	0.0	B	0.20052	0.041	B	0.13407	0.009	T	0.46679	-0.9174	8	0.13470	T	0.59	.	2.2485	0.04037	0.1236:0.3919:0.3103:0.1742	rs3120648;rs58109062	1488	P20930	FILA_HUMAN	N	1488	ENSP00000357789:T1488N	ENSP00000357789:T1488N	T	-	2	0	FLG	150549523	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.592000	0.05747	-0.155000	0.11098	-0.321000	0.08615	ACC	G|0.915;T|0.085	0.085	strong		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152282899	G	T	152282899	3	4	22	1	0	0	0	0	1	0	0	0	5922	1261	44	4	7726	4	FLG	1	152282899	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	786	152282899	96967722	629	5737			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152283367	152283367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaggaagactctgtgtgaTgagtgcctgattgtctggag	16	5	2	5			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152283367T>C	ENST00000368799.1	-	3	4030	c.3995A>G	c.(3994-3996)cAt>cGt	p.H1332R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1332	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTGTGATGAGTGCCTGA	0.552									Ichthyosis																												p.H1332R		Atlas-SNP	.											.	FLG	900	.	0			c.A3995G						PASS	.						304	292	296					1																	152283367		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTGTGATGAGTGC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3995A>G	1.37:g.152283367T>C	ENSP00000357789:p.His1332Arg	Somatic	509	0	0		WXS	Illumina HiSeq	Phase_I	622	48	0.0771704	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.821	-0.244841	0.05906	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	2.24	-3.75	0.04372	.	.	.	.	.	T	0.00580	0.0019	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45673	-0.9245	9	0.11182	T	0.66	.	8.4062	0.32616	0.0:0.3846:0.0:0.6154	.	1332	P20930	FILA_HUMAN	R	1332	ENSP00000357789:H1332R	ENSP00000357789:H1332R	H	-	2	0	FLG	150549991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.669000	0.00398	-1.560000	0.01686	-1.470000	0.01010	CAT	.	.	none		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283367	T	C	152283367	3	2	22	1	0	0	0	0	1	0	0	0	5922	1464	51	2	8194	2	FLG	1	152283367	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	468	152283367	96967254	630	5738			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152283811	152283811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtccagatctatctaccGattgctcatggtgggatccc	10	11	3	1	rs3120649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152283811G>A	ENST00000368799.1	-	3	3586	c.3551C>T	c.(3550-3552)tCg>tTg	p.S1184L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1184	Ser-rich.		S -> L (in dbSNP:rs3120649).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTATCTACCGATTGCTCATG	0.592									Ichthyosis				g|||	604	0.120607	0.4002	0.0303	5008	,	,		20335	0.0496		0.001	False		,,,				2504	0.0031				p.S1184L		Atlas-SNP	.											FLG,caecum,carcinoma,0,1	FLG	900	1	0			c.C3551T						PASS	.	A	LEU/SER	1450,2956	469.0+/-355.3	230,990,983	351	357	355		3551	-2.8	0	1	dbSNP_103	355	15,8585	10.5+/-38.8	0,15,4285	no	missense	FLG	NM_002016.1	145	230,1005,5268	AA,AG,GG		0.1744,32.9097,11.264	benign	1184/4062	152283811	1465,11541	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCTACCGATTGCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3551C>T	1.37:g.152283811G>A	ENSP00000357789:p.Ser1184Leu	Somatic	387	1	0.00258398		WXS	Illumina HiSeq	Phase_I	387	384	0.992248	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	191	0.08745421245421245	175	0.3556910569105691	11	0.03038674033149171	5	0.008741258741258742	0	0.0	g	5.236	0.229052	0.09916	0.329097	0.001744	ENSG00000143631	ENST00000368799	T	0.03745	3.82	2.75	-2.77	0.05877	.	.	.	.	.	T	0.01254	0.0041	M	0.78637	2.42	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.45512	-0.9256	8	0.25751	T	0.34	.	1.3189	0.02112	0.1257:0.1832:0.3195:0.3716	rs3120649;rs52832198;rs3120649	1184	P20930	FILA_HUMAN	L	1184	ENSP00000357789:S1184L	ENSP00000357789:S1184L	S	-	2	0	FLG	150550435	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.791000	0.04599	-0.766000	0.04639	-1.172000	0.01736	TCG	G|0.881;A|0.119	0.119	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283811	G	A	152283811	3	1	22	1	0	0	0	0	1	0	0	0	5922	1059	37	1	8638	1	FLG	1	152283811	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	444	152283811	96966810	631	5739			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152283862	152283862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccttgaccccgggtgtGcacgaatggtgtcctgaccc	11	15	1	2	rs58001094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152283862G>C	ENST00000368799.1	-	3	3535	c.3500C>G	c.(3499-3501)gCa>gGa	p.A1167G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1167	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTGCACGAATGGT	0.597									Ichthyosis				g|||	2675	0.534145	0.7806	0.4611	5008	,	,		20510	0.6577		0.1759	False		,,,				2504	0.4939				p.A1167G		Atlas-SNP	.											FLG,brain,glioma,0,1	FLG	900	1	0			c.C3500G						PASS	.	C	GLY/ALA	2642,1764	599.0+/-389.2	734,1174,295	291	346	328		3500	-5.5	0	1	dbSNP_129	328	1392,7208	258.1+/-281.9	103,1186,3011	no	missense	FLG	NM_002016.1	60	837,2360,3306	CC,CG,GG		16.186,40.0363,31.0165	benign	1167/4062	152283862	4034,8972	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGGTGTGCACGAA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3500C>G	1.37:g.152283862G>C	ENSP00000357789:p.Ala1167Gly	Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	430	402	0.934884	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	814	0.3727106227106227	262	0.532520325203252	123	0.3397790055248619	315	0.5506993006993007	114	0.1503957783641161	g	3.006	-0.204867	0.06180	0.599637	0.16186	ENSG00000143631	ENST00000368799	T	0.03920	3.76	2.76	-5.53	0.02552	.	.	.	.	.	T	0.00271	0.0008	N	0.00049	-2.42	0.80722	P	0.0	B	0.14805	0.011	B	0.10450	0.005	T	0.48269	-0.9050	8	0.21540	T	0.41	.	10.7783	0.46363	0.0:0.1887:0.7027:0.1086	rs58001094	1167	P20930	FILA_HUMAN	G	1167	ENSP00000357789:A1167G	ENSP00000357789:A1167G	A	-	2	0	FLG	150550486	.	.	0.000000	0.03702	0.008000	0.06430	.	.	-1.865000	0.01147	-1.429000	0.01096	GCA	G|0.640;C|0.360	0.360	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283862	G	C	152283862	3	2	22	1	0	0	0	0	1	0	0	0	5922	1319	46	4	8689	4	FLG	1	152283862	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	152283862	96966759	632	5740			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152283975	152283975	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctggtccgcccatgggcAgactcagactgttcatgagt	12	12	2	3	rs66831674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152283975A>G	ENST00000368799.1	-	3	3422	c.3387T>C	c.(3385-3387)tcT>tcC	p.S1129S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1129	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCATGGGCAGACTCAGACT	0.602									Ichthyosis				A|||	2319	0.463059	0.5204	0.4524	5008	,	,		19772	0.6558		0.172	False		,,,				2504	0.4939				p.S1129S		Atlas-SNP	.											.	FLG	900	.	0			c.T3387C						PASS	.	A		2011,2395	553.3+/-378.7	471,1069,663	169	206	193		3387	-6.3	0	1	dbSNP_130	193	1417,7181	270.4+/-288.9	125,1167,3007	no	coding-synonymous	FLG	NM_002016.1		596,2236,3670	GG,GA,AA		16.4806,45.6423,26.3611		1129/4062	152283975	3428,9576	2203	4299	6502	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATGGGCAGACTCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3387T>C	1.37:g.152283975A>G		Somatic	438	1	0.0022831		WXS	Illumina HiSeq	Phase_I	445	443	0.995506	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	weak		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152283975	A	G	152283975	2	3	22	1	0	0	0	0	0	0	0	1	5922	175	7	3		3	FLG	1	152283975	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113	152283975	96966646	633	5741			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284344	152284344	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtctctgcgtgaggagtTcctgattgtctggagctgtc	14	8	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284344T>G	ENST00000368799.1	-	3	3053	c.3018A>C	c.(3016-3018)ggA>ggC	p.G1006G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1006	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGAGGAGTTCCTGATTGTC	0.582									Ichthyosis																												p.G1006G		Atlas-SNP	.											FLG,NS,carcinoma,-2,1	FLG	900	1	0			c.A3018C						scavenged	.						295	297	296					1																	152284344		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGGAGTTCCTGAT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3018A>C	1.37:g.152284344T>G		Somatic	546	2	0.003663		WXS	Illumina HiSeq	Phase_I	568	29	0.0510563	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	none		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284344	T	G	152284344	2	3	22	1	0	0	0	0	0	0	0	1	5922	1770	62	5		5	FLG	1	152284344	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	369	152284344	96966277	634	5742			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284382	152284382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcagagtgcccgtgacCggctctgtcttcgtgatggg	15	11	3	3	rs149595328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284382C>T	ENST00000368799.1	-	3	3015	c.2980G>A	c.(2980-2982)Ggt>Agt	p.G994S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	994	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G994C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCGTGACCGGCTCTGTCT	0.577									Ichthyosis				T|||	23	0.00459265	0.0166	0.0014	5008	,	,		20620	0.0		0.0	False		,,,				2504	0.0				p.G994S		Atlas-SNP	.											FLG,NS,carcinoma,+1,2	FLG	900	2	1	Substitution - Missense(1)	lung(1)	c.G2980A						PASS	.	C	SER/GLY	62,4344	820.7+/-416.4	0,62,2141	242	245	244		2980	-0.6	0	1	dbSNP_134	244	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	56	0,62,6441	TT,TC,CC		0.0,1.4072,0.4767	benign	994/4062	152284382	62,12944	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGTGACCGGCTCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2980G>A	1.37:g.152284382C>T	ENSP00000357789:p.Gly994Ser	Somatic	581	0	0		WXS	Illumina HiSeq	Phase_I	674	50	0.074184	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	t	7.940	0.742605	0.15642	0.014072	0.0	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00649	5.98	2.34	-0.615	0.11587	.	.	.	.	.	T	0.00144	0.0004	L	0.32530	0.975	0.09310	N	1	B	0.29232	0.238	B	0.12156	0.007	T	0.28713	-1.0035	9	0.06625	T	0.88	.	5.25	0.15517	0.0:0.5849:0.0:0.4151	.	994	P20930	FILA_HUMAN	S	994;201	ENSP00000357789:G994S	ENSP00000357789:G994S	G	-	1	0	FLG	150551006	0.000000	0.05858	0.001000	0.08648	0.126000	0.20510	-0.003000	0.12901	0.047000	0.15862	0.291000	0.19559	GGT	C|0.995;T|0.005	0.005	strong		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284382	C	T	152284382	3	4	22	1	0	0	0	0	1	0	0	0	5922	652	23	1	9209	1	FLG	1	152284382	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38	152284382	96966239	635	5743			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284457	152284457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagcagatccacgatggtTtctggaagcagacccagacc	11	12	1	4	rs376429887|rs3120652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284457T>A	ENST00000368799.1	-	3	2940	c.2905A>T	c.(2905-2907)Aac>Tac	p.N969Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	969	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACGATGGTTTCTGGAAGCA	0.582									Ichthyosis				T|||	297	0.0593051	0.2141	0.0187	5008	,	,		21442	0.0		0.001	False		,,,				2504	0.0				p.N969Y		Atlas-SNP	.											.	FLG	900	.	0			c.A2905T						PASS	.	T	TYR/ASN	721,3685	260.4+/-263.7	46,629,1528	236	238	237		2905	-6	0	1	dbSNP_103	237	9,8591	7.1+/-27.0	0,9,4291	no	missense	FLG	NM_002016.1	143	46,638,5819	AA,AT,TT		0.1047,16.364,5.6128	possibly-damaging	969/4062	152284457	730,12276	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GATGGTTTCTGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2905A>T	1.37:g.152284457T>A	ENSP00000357789:p.Asn969Tyr	Somatic	446	0	0		WXS	Illumina HiSeq	Phase_I	538	214	0.39777	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	83	0.038003663003663	78	0.15853658536585366	5	0.013812154696132596	0	0.0	0	0.0	t	2.680	-0.275489	0.05679	0.16364	0.001047	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01647	4.71	3.01	-6.01	0.02199	.	.	.	.	.	T	0.00724	0.0024	M	0.68317	2.08	0.80722	P	0.0	P	0.39831	0.69	B	0.34093	0.175	T	0.03433	-1.1037	8	0.59425	D	0.04	.	8.703	0.34338	0.0:0.0998:0.6558:0.2444	.	969	P20930	FILA_HUMAN	Y	969;176	ENSP00000357789:N969Y	ENSP00000357789:N969Y	N	-	1	0	FLG	150551081	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.749000	0.01824	-1.940000	0.01043	-0.641000	0.03968	AAC	T|0.942;A|0.058	0.058	strong		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284457	T	A	152284457	3	1	22	1	0	0	0	0	1	0	0	0	5922	1841	64	5	9284	5	FLG	1	152284457	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75	152284457	96966164	636	5744			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284497	152284497	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctctcagagtcttctgaAtgtccctcactgtcactgtc					rs144437056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284497A>G	ENST00000368799.1	-	3	2900	c.2865T>C	c.(2863-2865)caT>caC	p.H955H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	955	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTTCTGAATGTCCCTCAC	0.572									Ichthyosis				-|||	257	0.0513179	0.177	0.0029	5008	,	,		21925	0.0089		0.004	False		,,,				2504	0.0082				p.H955H		Atlas-SNP	.											.	FLG	900	.	0			c.T2865C						PASS	.	G		23,4383		0,23,2180	287	275	279		2865	-8.1	0	1	dbSNP_134	279	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,23,6480	GG,GA,AA		0.0,0.522,0.1768		955/4062	152284497	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTCTGAATGTCCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2865T>C	1.37:g.152284497A>G		Somatic	455	1	0.0021978		WXS	Illumina HiSeq	Phase_I	640	161	0.251563	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.972;G|0.028	0.028	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284497	A	G	152284497	2	3	22	1	0	0	0	0	0	0	0	1	5922	98	4	2		2	FLG	1	152284497	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40	152284497	96966124	637	5745	115	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284505	152284505	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtcttctgaatgtccctCactgtcactgtcctggctaa					rs201137357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284505C>G	ENST00000368799.1	-	3	2892	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	953	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTCCCTCACTGTCACTG	0.572									Ichthyosis				-|||	685	0.136781	0.3707	0.0576	5008	,	,		22374	0.0694		0.0258	False		,,,				2504	0.0603				p.E953Q		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.G2857C						PASS	.	G	GLN/GLU	442,3964		4,434,1765	302	283	290		2857	2.1	0	1	dbSNP_134	290	5,8595		0,5,4295	no	missense	FLG	NM_002016.1	29	4,439,6060	GG,GC,CC		0.0581,10.0318,3.4369	probably-damaging	953/4062	152284505	447,12559	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCCCTCACTGTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2857G>C	1.37:g.152284505C>G	ENSP00000357789:p.Glu953Gln	Somatic	483	1	0.00207039		WXS	Illumina HiSeq	Phase_I	701	195	0.278174	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.629	0.678402	0.14841	0.100318	5.81E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.08008	3.14	4.22	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.11724	0.165	0.09310	N	1	D	0.61697	0.99	P	0.61201	0.885	T	0.41770	-0.9490	9	0.25751	T	0.34	.	6.5814	0.22596	0.2048:0.5963:0.1989:0.0	.	953	P20930	FILA_HUMAN	Q	953;160	ENSP00000357789:E953Q	ENSP00000357789:E953Q	E	-	1	0	FLG	150551129	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	-0.312000	0.08113	0.743000	0.32719	0.473000	0.43528	GAG	.	.	weak		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284505	C	G	152284505	3	3	22	1	0	0	0	0	1	0	0	0	5922	835	29	4	9332	4	FLG	1	152284505	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8	152284505	96966116	638	5746	115	2	2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284576	152284576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccctctgattgtccctggCctgcctgtgagtgtctagag	11	13	2	3	rs143382793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284576C>A	ENST00000368799.1	-	3	2821	c.2786G>T	c.(2785-2787)gGc>gTc	p.G929V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	929	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGCCTGCCTGTGA	0.557									Ichthyosis																												p.G929V		Atlas-SNP	.											.	FLG	900	.	0			c.G2786T						PASS	.						327	313	318					1																	152284576		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCTGGCCTGCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2786G>T	1.37:g.152284576C>A	ENSP00000357789:p.Gly929Val	Somatic	591	1	0.00169205		WXS	Illumina HiSeq	Phase_I	745	145	0.194631	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	1.719	-0.497190	0.04291	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.06528	3.29	1.17	0.0422	0.14216	.	.	.	.	.	T	0.06142	0.0159	M	0.77820	2.39	0.09310	N	1	D	0.67145	0.996	P	0.58970	0.849	T	0.24977	-1.0145	9	0.21014	T	0.42	.	4.8967	0.13753	0.0:0.6064:0.3936:0.0	.	929	P20930	FILA_HUMAN	V	929;136	ENSP00000357789:G929V	ENSP00000357789:G929V	G	-	2	0	FLG	150551200	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.167000	0.09940	0.033000	0.15463	0.479000	0.44913	GGC	C|0.993;A|0.007	0.007	strong		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284576	C	A	152284576	3	1	22	1	0	0	0	0	1	0	0	0	5922	739	26	4	9403	4	FLG	1	152284576	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71	152284576	96966045	639	5747			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284823	152284823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccttcctcttctgcttgAccccgggtgtccacgaatgg	10	15	2	1	rs74129459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284823A>G	ENST00000368799.1	-	3	2574	c.2539T>C	c.(2539-2541)Tca>Cca	p.S847P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	847	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTTGACCCCGGGTGT	0.582									Ichthyosis																												p.S847P		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.T2539C						PASS	.						322	322	322					1																	152284823		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTTGACCCCGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2539T>C	1.37:g.152284823A>G	ENSP00000357789:p.Ser847Pro	Somatic	410	0	0		WXS	Illumina HiSeq	Phase_I	477	23	0.048218	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.279	0.608792	0.14066	.	.	ENSG00000143631	ENST00000368799	T	0.03772	3.81	3.63	2.44	0.29823	.	.	.	.	.	T	0.05731	0.0150	L	0.58428	1.81	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.31530	-0.9940	9	0.34782	T	0.22	.	6.6957	0.23197	0.7566:0.2434:0.0:0.0	.	847	P20930	FILA_HUMAN	P	847	ENSP00000357789:S847P	ENSP00000357789:S847P	S	-	1	0	FLG	150551447	0.001000	0.12720	0.003000	0.11579	0.020000	0.10135	0.252000	0.18278	0.443000	0.26582	0.392000	0.25879	TCA	A|0.984;T|0.016	.	alt		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284823	A	G	152284823	3	3	22	1	0	0	0	0	1	0	0	0	5922	275	10	2	9650	2	FLG	1	152284823	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	247	152284823	96965798	640	5748			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152284854	152284854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgaatggtgtcctgaccAtcttgggatgctgagtgcct	12	11	1	2	rs3120653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152284854A>G	ENST00000368799.1	-	3	2543	c.2508T>C	c.(2506-2508)gaT>gaC	p.D836D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCATCTTGGGATG	0.592									Ichthyosis				-|||	2370	0.473243	0.5567	0.4553	5008	,	,		20739	0.6558		0.173	False		,,,				2504	0.4939				p.D836D		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,-2,1	FLG	900	1	0			c.T2508C						PASS	.	C		2208,2198		542,1124,537	320	318	319		2508	-5.9	0	1	dbSNP_103	319	1462,7138		126,1210,2964	no	coding-synonymous	FLG	NM_002016.1		668,2334,3501	GG,GA,AA		17.0,49.8865,28.2177		836/4062	152284854	3670,9336	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGACCATCTTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2508T>C	1.37:g.152284854A>G		Somatic	470	2	0.00425532		WXS	Illumina HiSeq	Phase_I	522	517	0.990421	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.687;G|0.313	0.313	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284854	A	G	152284854	2	3	22	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152284854	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31	152284854	96965767	641	5749			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152285137	152285137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtggcctgactaccactgGaccctcggtgtccactgtct	10	15	1	1	rs3120654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152285137G>T	ENST00000368799.1	-	3	2260	c.2225C>A	c.(2224-2226)tCc>tAc	p.S742Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	742	Ser-rich.		S -> Y (in dbSNP:rs3120654).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACCACTGGACCCTCGGTG	0.587									Ichthyosis				-|||	606	0.121006	0.4009	0.0317	5008	,	,		20663	0.0496		0.001	False		,,,				2504	0.0031				p.S742Y		Atlas-SNP	.											.	FLG	900	.	0			c.C2225A						PASS	.	G	TYR/SER	1475,2931		245,985,973	359	372	367		2225	3.2	0	1	dbSNP_103	367	19,8581		0,19,4281	no	missense	FLG	NM_002016.1	144	245,1004,5254	TT,TG,GG		0.2209,33.4771,11.487	benign	742/4062	152285137	1494,11512	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCACTGGACCCTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2225C>A	1.37:g.152285137G>T	ENSP00000357789:p.Ser742Tyr	Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	231	228	0.987013	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	197	0.0902014652014652	156	0.3170731707317073	17	0.04696132596685083	23	0.04020979020979021	1	0.0013192612137203166	-	6.498	0.460047	0.12342	0.334771	0.002209	ENSG00000143631	ENST00000368799	T	0.09073	3.02	4.17	3.25	0.37280	.	.	.	.	.	T	0.04815	0.0130	L	0.39397	1.21	0.80722	P	0.0	D	0.71674	0.998	D	0.64144	0.922	T	0.04991	-1.0913	8	0.02654	T	1	-2.0E-4	7.4925	0.27471	0.1191:0.0:0.8809:0.0	.	742	P20930	FILA_HUMAN	Y	742	ENSP00000357789:S742Y	ENSP00000357789:S742Y	S	-	2	0	FLG	150551761	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	1.429000	0.34903	0.971000	0.38288	0.485000	0.47835	TCC	G|0.892;T|0.108	0.108	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152285137	G	T	152285137	3	4	22	1	0	0	0	0	1	0	0	0	5922	1174	41	4	9964	4	FLG	1	152285137	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	283	152285137	96965484	642	5750			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152285188	152285188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagcttgtccgtgcccaGtgcctgagtgtctggagctg	14	10	1	2	rs3120655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152285188G>A	ENST00000368799.1	-	3	2209	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	725	Ser-rich.		T -> I (in dbSNP:rs3120655).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGCCCAGTGCCTGAGTG	0.567									Ichthyosis				-|||	562	0.11222	0.407	0.0331	5008	,	,		21307	0.0		0.001	False		,,,				2504	0.0				p.T725I		Atlas-SNP	.											.	FLG	900	.	0			c.C2174T						PASS	.	G	ILE/THR	1483,2923		249,985,969	379	400	393		2174	3	0	1	dbSNP_103	393	19,8581		0,19,4281	no	missense	FLG	NM_002016.1	89	249,1004,5250	AA,AG,GG		0.2209,33.6586,11.5485	possibly-damaging	725/4062	152285188	1502,11504	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCCCAGTGCCTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2174C>T	1.37:g.152285188G>A	ENSP00000357789:p.Thr725Ile	Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	274	272	0.992701	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	165	0.07554945054945054	152	0.3089430894308943	12	0.03314917127071823	1	0.0017482517482517483	0	0.0	-	6.095	0.385885	0.11524	0.336586	0.002209	ENSG00000143631	ENST00000368799	T	0.03358	3.96	3.89	2.97	0.34412	.	.	.	.	.	T	0.00580	0.0019	N	0.03281	-0.365	0.80722	P	0.0	B	0.14805	0.011	B	0.17979	0.02	T	0.46317	-0.9200	8	0.16896	T	0.51	1.9131	8.0676	0.30669	0.1154:0.0:0.8846:0.0	.	725	P20930	FILA_HUMAN	I	725	ENSP00000357789:T725I	ENSP00000357789:T725I	T	-	2	0	FLG	150551812	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.408000	0.07169	0.832000	0.34804	-0.663000	0.03849	ACT	.	.	weak		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285188	G	A	152285188	3	1	22	1	0	0	0	0	1	0	0	0	5922	1029	36	2	10015	2	FLG	1	152285188	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	152285188	96965433	643	5751			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152285541	152285541	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtcctgggccccgatgaTtgtccctggcccacctgtga	11	15	0	2	rs116417983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152285541T>C	ENST00000368799.1	-	3	1856	c.1821A>G	c.(1819-1821)caA>caG	p.Q607Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	607	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCGATGATTGTCCCTGGC	0.567									Ichthyosis				T|||	94	0.01877	0.0688	0.0043	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.0				p.Q607Q		Atlas-SNP	.											.	FLG	900	.	0			c.A1821G						PASS	.	T		186,4220	120.0+/-157.7	5,176,2022	287	283	284		1821	-1.6	0	1	dbSNP_132	284	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		5,176,6322	CC,CT,TT		0.0,4.2215,1.4301		607/4062	152285541	186,12820	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGATGATTGTCCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1821A>G	1.37:g.152285541T>C		Somatic	535	0	0		WXS	Illumina HiSeq	Phase_I	542	253	0.46679	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			T|0.986;C|0.014	0.014	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152285541	T	C	152285541	2	2	22	1	0	0	0	0	0	0	0	1	5922	1490	52	2		2	FLG	1	152285541	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	353	152285541	96965080	644	5752			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG	2312	hgsc.bcm.edu	37	chr1	152286002	152286002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccctgaccggccacgtgTggactcttggtggctctgct	12	14	2	1	rs386635459|rs2011331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152286002T>C	ENST00000368799.1	-	3	1395	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	454	Ser-rich.		T -> A (in dbSNP:rs2011331).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCACGTGTGGACTCTTGG	0.587									Ichthyosis				-|||	2324	0.464058	0.5204	0.4539	5008	,	,		18904	0.6587		0.173	False		,,,				2504	0.4939				p.T454A		Atlas-SNP	.											.	FLG	900	.	0			c.A1360G						PASS	.	C	ALA/THR	2058,2348		473,1112,618	201	196	198		1360	-6.9	0	1	dbSNP_92	198	1461,7139		126,1209,2965	no	missense	FLG	NM_002016.1	58	599,2321,3583	CC,CT,TT		16.9884,46.709,27.0567	benign	454/4062	152286002	3519,9487	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CACGTGTGGACTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1360A>G	1.37:g.152286002T>C	ENSP00000357789:p.Thr454Ala	Somatic	434	0	0		WXS	Illumina HiSeq	Phase_I	457	457	1	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	869	0.39789377289377287	240	0.4878048780487805	136	0.3756906077348066	360	0.6293706293706294	133	0.17546174142480211	-	3.629	-0.075933	0.07184	0.46709	0.169884	ENSG00000143631	ENST00000368799	T	0.02197	4.4	3.43	-6.86	0.01676	.	.	.	.	.	T	0.00210	0.0006	N	0.05230	-0.09	0.80722	P	0.0	B	0.19935	0.04	B	0.11329	0.006	T	0.48559	-0.9025	8	0.05620	T	0.96	.	0.0862	0.00036	0.2681:0.2448:0.199:0.2881	rs60352258	454	P20930	FILA_HUMAN	A	454	ENSP00000357789:T454A	ENSP00000357789:T454A	T	-	1	0	FLG	150552626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.855000	0.00729	-3.086000	0.00249	-1.512000	0.00943	ACA	T|0.667;C|0.333	0.333	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152286002	T	C	152286002	3	2	22	1	0	0	0	0	1	0	0	0	5922	1696	59	2	10829	2	FLG	1	152286002	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	461	152286002	96964619	645	5753			2	31	139354226	55	50	10444	N	T_G_C_A	3.865051e-37
FLG2	388698	hgsc.bcm.edu	37	chr1	152324397	152324397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactgtcactgtactcactGtggccagatccccttcttcc	6	16	4	1	rs79983774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152324397G>A	ENST00000388718.5	-	3	5937	c.5865C>T	c.(5863-5865)caC>caT	p.H1955H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1955					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTACTCACTGTGGCCAGATC	0.532													g|||	341	0.0680911	0.2421	0.0231	5008	,	,		27530	0.0		0.005	False		,,,				2504	0.0				p.H1955H		Atlas-SNP	.											.	FLG2	431	.	0			c.C5865T						PASS	.	G		841,3565	331.8+/-302.1	70,701,1432	329	310	316		5865	-2.1	0	1	dbSNP_131	316	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	FLG2	NM_001014342.2		70,726,5707	AA,AG,GG		0.2907,19.0876,6.6585		1955/2392	152324397	866,12140	2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			CTCACTGTGGCCA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5865C>T	1.37:g.152324397G>A		Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	426	211	0.495305	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			G|0.940;A|0.060	0.060	strong		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152324397	G	A	152324397	2	1	22	1	0	0	0	0	0	0	0	1	5923	1368	48	2		2	FLG2	1	152324397	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38395	152324397	96926224	646	5754										
FLG2	388698	hgsc.bcm.edu	37	chr1	152325456	152325456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcttcatgttgagatccGgcttggccgtaagtgtgttc	13	9	2	1	rs73007787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152325456G>A	ENST00000388718.5	-	3	4878	c.4806C>T	c.(4804-4806)gcC>gcT	p.A1602A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1602					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGAGATCCGGCTTGGCCGT	0.512													g|||	341	0.0680911	0.2421	0.0231	5008	,	,		26525	0.0		0.005	False		,,,				2504	0.0				p.A1602A		Atlas-SNP	.											.	FLG2	431	.	0			c.C4806T						PASS	.	G		841,3565	331.8+/-302.1	70,701,1432	353	305	321		4806	-7.5	0	1	dbSNP_130	321	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	FLG2	NM_001014342.2		70,726,5707	AA,AG,GG		0.2907,19.0876,6.6585		1602/2392	152325456	866,12140	2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			AGATCCGGCTTGG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4806C>T	1.37:g.152325456G>A		Somatic	404	1	0.00247525		WXS	Illumina HiSeq	Phase_I	399	226	0.566416	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			G|0.940;A|0.060	0.060	strong		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152325456	G	A	152325456	2	1	22	1	0	0	0	0	0	0	0	1	5923	1103	39	1		1	FLG2	1	152325456	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1059	152325456	96925165	647	5755										
FLG2	388698	hgsc.bcm.edu	37	chr1	152326516	152326516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttgaccagactggctaTgtctagtggtatttattgtc	10	8	1	2	rs16833974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152326516T>C	ENST00000388718.5	-	3	3818	c.3746A>G	c.(3745-3747)cAt>cGt	p.H1249R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1249	Ser-rich.		H -> R (in dbSNP:rs16833974).		establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCTATGTCTAGTGGT	0.478													T|||	341	0.0680911	0.2421	0.0231	5008	,	,		25196	0.0		0.005	False		,,,				2504	0.0				p.H1249R		Atlas-SNP	.											.	FLG2	431	.	0			c.A3746G						PASS	.	T	ARG/HIS	842,3564	332.0+/-302.3	71,700,1432	263	245	251		3746	2.5	0	1	dbSNP_123	251	25,8575	17.9+/-57.8	0,25,4275	yes	missense	FLG2	NM_001014342.2	29	71,725,5707	CC,CT,TT		0.2907,19.1103,6.6662	possibly-damaging	1249/2392	152326516	867,12139	2203	4300	6503	SO:0001583	missense	388698	exon3			TGGCTATGTCTAG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3746A>G	1.37:g.152326516T>C	ENSP00000373370:p.His1249Arg	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	349	175	0.501433	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	118	0.05402930402930403	112	0.22764227642276422	4	0.011049723756906077	0	0.0	2	0.002638522427440633	T	9.679	1.148853	0.21288	0.191103	0.002907	ENSG00000143520	ENST00000388718	T	0.37752	1.18	3.64	2.47	0.30058	.	.	.	.	.	T	0.09468	0.0233	L	0.52266	1.64	0.80722	P	0.0	P	0.39480	0.675	B	0.28638	0.092	T	0.17410	-1.0370	8	0.16420	T	0.52	-0.2453	7.1344	0.25521	0.0:0.0:0.2304:0.7696	rs16833974;rs16833974	1249	Q5D862	FILA2_HUMAN	R	1249	ENSP00000373370:H1249R	ENSP00000373370:H1249R	H	-	2	0	FLG2	150593140	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	-0.219000	0.09228	0.384000	0.24942	0.254000	0.18369	CAT	T|0.932;C|0.068	0.068	strong		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152326516	T	C	152326516	3	2	22	1	0	0	0	0	1	0	0	0	5923	1464	51	2	3433	2	FLG2	1	152326516	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1060	152326516	96924105	648	5756										
CRNN	49860	hgsc.bcm.edu	37	chr1	152382436	152382436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgcgtctgggtctgtccCtgttctctagcccctccgtg	12	15	3	0	rs6695830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152382436C>G	ENST00000271835.3	-	3	1184	c.1122G>C	c.(1120-1122)caG>caC	p.Q374H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	374	Gln-rich.		Q -> H (in dbSNP:rs6695830).		response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTCTGTCCCTGTTCTCTAG	0.592													C|||	366	0.0730831	0.261	0.0231	5008	,	,		25184	0.0		0.005	False		,,,				2504	0.0				p.Q374H		Atlas-SNP	.											CRNN,NS,carcinoma,-2,1	CRNN	78	1	0			c.G1122C						PASS	.	C	HIS/GLN	855,3551	336.0+/-304.2	78,699,1426	171	145	154		1122	1	0	1	dbSNP_116	154	23,8577	16.6+/-54.9	0,23,4277	yes	missense	CRNN	NM_016190.2	24	78,722,5703	GG,GC,CC		0.2674,19.4054,6.7507	possibly-damaging	374/496	152382436	878,12128	2203	4300	6503	SO:0001583	missense	49860	exon3			CTGTCCCTGTTCT	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1122G>C	1.37:g.152382436C>G	ENSP00000271835:p.Gln374His	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	341	340	0.997067	NM_016190	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	120	0.054945054945054944	114	0.23170731707317074	4	0.011049723756906077	0	0.0	2	0.002638522427440633	C	14.19	2.462134	0.43736	0.194054	0.002674	ENSG00000143536	ENST00000271835	T	0.05139	3.49	4.86	0.955	0.19602	.	0.889113	0.09605	N	0.779761	T	0.04182	0.0116	L	0.54323	1.7	0.80722	P	0.0	D	0.56035	0.974	P	0.49012	0.598	T	0.36286	-0.9754	9	0.62326	D	0.03	.	6.7488	0.23475	0.0:0.6177:0.0:0.3823	rs6695830;rs6695830	374	Q9UBG3	CRNN_HUMAN	H	374	ENSP00000271835:Q374H	ENSP00000271835:Q374H	Q	-	3	2	CRNN	150649060	0.361000	0.24972	0.006000	0.13384	0.150000	0.21749	0.677000	0.25262	0.018000	0.15052	-0.225000	0.12378	CAG	C|0.939;G|0.061	0.061	strong		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		G	152382436	C	G	152382436	3	3	22	1	0	0	0	0	1	0	0	0	3892	680	24	4	369	4	CRNN	1	152382436	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55920	152382436	96868185	649	5757										
LCE5A	254910	hgsc.bcm.edu	37	chr1	152484129	152484129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaaatgccctccccagtGttcagccccatgcccacctc	5	21	1	0	rs2105117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152484129G>A	ENST00000334269.2	+	2	295	c.119G>A	c.(118-120)tGt>tAt	p.C40Y	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	40	Cys-rich.		C -> Y (in dbSNP:rs2105117).		keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCCAGTGTTCAGCCCCA	0.612													G|||	2614	0.521965	0.3132	0.5346	5008	,	,		15690	0.6111		0.6223	False		,,,				2504	0.6002				p.C40Y		Atlas-SNP	.											.	LCE5A	15	.	0			c.G119A						PASS	.	G	TYR/CYS	1549,2857	487.8+/-361.0	277,995,931	93	86	88		119	0.9	0	1	dbSNP_96	88	5425,3175	655.0+/-401.2	1716,1993,591	yes	missense	LCE5A	NM_178438.4	194	1993,2988,1522	AA,AG,GG		36.9186,35.1566,46.3786	benign	40/119	152484129	6974,6032	2203	4300	6503	SO:0001583	missense	254910	exon2			CCCAGTGTTCAGC	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"Late cornified envelopes"	16614	protein-coding gene	gene with protein product		612619	"small proline rich-like (epidermal differentiation complex) 5A"	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.119G>A	1.37:g.152484129G>A	ENSP00000333952:p.Cys40Tyr	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	184	91	0.494565	NM_178438		Missense_Mutation	SNP	ENST00000334269.2	37	CCDS1011.1	1216	0.5567765567765568	161	0.32723577235772355	210	0.580110497237569	367	0.6416083916083916	478	0.6306068601583114	G	0.982	-0.696693	0.03279	0.351566	0.630814	ENSG00000186207	ENST00000334269	T	0.03982	3.74	1.84	0.898	0.19264	.	.	.	.	.	T	0.01695	0.0054	L	0.54323	1.7	0.80722	P	0.0	B	0.15719	0.014	B	0.08055	0.003	T	0.37407	-0.9707	8	0.56958	D	0.05	.	4.2828	0.10841	0.2119:0.0:0.7881:0.0	rs2105117;rs17657912;rs52814697;rs58898265;rs2105117	40	Q5TCM9	LCE5A_HUMAN	Y	40	ENSP00000333952:C40Y	ENSP00000333952:C40Y	C	+	2	0	LCE5A	150750753	0.001000	0.12720	0.009000	0.14445	0.794000	0.44872	0.308000	0.19314	0.324000	0.23333	0.195000	0.17529	TGT	G|0.469;A|0.531	0.531	strong		0.612	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		A	152484129	G	A	152484129	3	1	22	1	0	0	0	0	1	0	0	0	8675	1377	48	2	121	2	LCE5A	1	152484129	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101693	152484129	96766492	650	5758										
LCE3D	84648	hgsc.bcm.edu	37	chr1	152552311	152552311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcttggggcacagccagaGgaagctggaggcagacactg	17	9	0	2	rs149516289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152552311G>A	ENST00000368787.3	-	2	158	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	34					keratinization (GO:0031424)					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CACAGCCAGAGGAAGCTGGAG	0.662													G|||	43	0.00858626	0.0325	0.0	5008	,	,		16707	0.0		0.0	False		,,,				2504	0.0				p.S34S		Atlas-SNP	.											.	LCE3D	28	.	0			c.C102T						PASS	.	G		102,4304	81.4+/-119.9	2,98,2103	75	83	81		102	-1.4	0.1	1	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	LCE3D	NM_032563.1		2,98,6403	AA,AG,GG		0.0,2.315,0.7843		34/93	152552311	102,12904	2203	4300	6503	SO:0001819	synonymous_variant	84648	exon2			GCCAGAGGAAGCT	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"Late cornified envelopes"	16615	protein-coding gene	gene with protein product		612616	"small proline rich-like (epidermal differentiation complex) 6B"	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.102C>T	1.37:g.152552311G>A		Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	263	137	0.520913	NM_032563	Q3MIL1	Silent	SNP	ENST00000368787.3	37	CCDS1014.1																																																																																			G|0.992;A|0.008	0.008	strong		0.662	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		A	152552311	G	A	152552311	2	1	22	1	0	0	0	0	0	0	0	1	8672	987	35	2		2	LCE3D	1	152552311	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68182	152552311	96698310	651	5759										
LCE3C	353144	hgsc.bcm.edu	37	chr1	152573464	152573464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaggcgggggctcctgccGtggccatggctctgggggct	19	12	1	0	rs148755167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152573464G>A	ENST00000333881.3	+	1	327	c.257G>A	c.(256-258)cGt>cAt	p.R86H		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	86					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GGCTCCTGCCGTGGCCATGGC	0.597													G|||	62	0.0123802	0.0469	0.0	5008	,	,		6910	0.0		0.0	False		,,,				2504	0.0				p.R86H		Atlas-SNP	.											.	LCE3C	3	.	0			c.G257A						PASS	.	G	HIS/ARG	128,3478		23,82,1698	32	32	32		257	3.1	0.5	1	dbSNP_134	32	2,5326		0,2,2662	no	missense	LCE3C	NM_178434.2	29	23,84,4360	AA,AG,GG		0.0375,3.5496,1.4551	benign	86/95	152573464	130,8804	1803	2664	4467	SO:0001583	missense	353144	exon1			CCTGCCGTGGCCA	BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"Late cornified envelopes"	16612	protein-coding gene	gene with protein product		612615	"small proline rich-like (epidermal differentiation complex) 3A"	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.257G>A	1.37:g.152573464G>A	ENSP00000334644:p.Arg86His	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	161	79	0.490683	NM_178434	A1L420	Missense_Mutation	SNP	ENST00000333881.3	37	CCDS1015.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	G	3.891	-0.024030	0.07634	0.035496	3.75E-4	ENSG00000244057	ENST00000333881	T	0.03524	3.9	4.01	3.08	0.35506	.	.	.	.	.	T	0.00967	0.0032	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.06405	0.002	T	0.47156	-0.9139	8	0.29301	T	0.29	.	9.3733	0.38268	0.0:0.2192:0.7808:0.0	.	86	Q5T5A8	LCE3C_HUMAN	H	86	ENSP00000334644:R86H	ENSP00000334644:R86H	R	+	2	0	LCE3C	150840088	0.520000	0.26250	0.478000	0.27316	0.166000	0.22503	1.037000	0.30241	0.858000	0.35431	0.313000	0.20887	CGT	G|0.988;A|0.012	0.012	strong		0.597	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040061.2	NM_178434		A	152573464	G	A	152573464	3	1	22	1	0	0	0	0	1	0	0	0	8671	1145	40	1	259	1	LCE3C	1	152573464	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21153	152573464	96677157	652	5760										
LCE2B	26239	hgsc.bcm.edu	37	chr1	152659392	152659392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagtgtaccccaaaatgtCcacctaagtgtccccctaaa	5	15	0	0	rs61730791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152659392C>T	ENST00000368780.3	+	2	127	c.73C>T	c.(73-75)Cca>Tca	p.P25S	LCE2B_ENST00000417924.2_Missense_Mutation_p.P25S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	25	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAAATGTCCACCTAAGTG	0.572													C|||	65	0.0129792	0.0461	0.0043	5008	,	,		15748	0.0		0.001	False		,,,				2504	0.0				p.P25S		Atlas-SNP	.											.	LCE2B	40	.	0			c.C73T						PASS	.	C	SER/PRO	146,4260	102.5+/-141.1	4,138,2061	123	122	123		73	1.5	0	1	dbSNP_129	123	1,8599		0,1,4299	yes	missense	LCE2B	NM_014357.4	74	4,139,6360	TT,TC,CC		0.0116,3.3137,1.1302	benign	25/111	152659392	147,12859	2203	4300	6503	SO:0001583	missense	26239	exon2			AAATGTCCACCTA	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.73C>T	1.37:g.152659392C>T	ENSP00000357769:p.Pro25Ser	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	240	124	0.516667	NM_014357	Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	CCDS1020.1	24	0.01098901098901099	21	0.042682926829268296	3	0.008287292817679558	0	0.0	0	0.0	C	1.661	-0.511564	0.04200	0.033137	1.16E-4	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03607	3.87;3.87	2.46	1.45	0.22620	.	.	.	.	.	T	0.01940	0.0061	M	0.77820	2.39	0.09310	N	1	B	0.14012	0.009	B	0.17722	0.019	T	0.40213	-0.9575	9	0.87932	D	0	.	4.1955	0.10441	0.0:0.7428:0.0:0.2572	rs61730791	25	O14633	LCE2B_HUMAN	S	25	ENSP00000414043:P25S;ENSP00000357769:P25S	ENSP00000357769:P25S	P	+	1	0	LCE2B	150926016	0.000000	0.05858	0.001000	0.08648	0.514000	0.34195	-0.555000	0.05999	0.257000	0.21650	0.313000	0.20887	CCA	C|0.986;T|0.014	0.014	strong		0.572	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		T	152659392	C	T	152659392	3	4	22	1	0	0	0	0	1	0	0	0	8666	855	30	2	75	2	LCE2B	1	152659392	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85928	152659392	96591229	653	5761										
LCE2B	26239	hgsc.bcm.edu	37	chr1	152659471	152659471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttcttgctgtggtcccaTctctgggggctgctgtggtc	13	12	3	0	rs3737859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152659471T>G	ENST00000368780.3	+	2	206	c.152T>G	c.(151-153)aTc>aGc	p.I51S	LCE2B_ENST00000417924.2_Missense_Mutation_p.I51S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	51	Cys-rich.		I -> S (in dbSNP:rs3737859).		epidermis development (GO:0008544)|keratinization (GO:0031424)			p.I51S(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCATCTCTGGGGGC	0.637													G|||	1033	0.20627	0.3071	0.1556	5008	,	,		14305	0.2946		0.0875	False		,,,				2504	0.137				p.I51S		Atlas-SNP	.											LCE2B,NS,carcinoma,0,1	LCE2B	40	1	1	Substitution - Missense(1)	stomach(1)	c.T152G						PASS	.	G	SER/ILE	1263,3143	701.8+/-406.8	184,895,1124	126	139	135		152	2.4	1	1	dbSNP_107	135	700,7900	787.6+/-407.6	35,630,3635	no	missense	LCE2B	NM_014357.4	142	219,1525,4759	GG,GT,TT		8.1395,28.6655,15.093	benign	51/111	152659471	1963,11043	2203	4300	6503	SO:0001583	missense	26239	exon2			GTCCCATCTCTGG	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.152T>G	1.37:g.152659471T>G	ENSP00000357769:p.Ile51Ser	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	269	141	0.524164	NM_014357	Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	CCDS1020.1	424	0.19413919413919414	142	0.2886178861788618	42	0.11602209944751381	170	0.2972027972027972	70	0.09234828496042216	G	1.573	-0.533501	0.04082	0.286655	0.081395	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03152	4.03;4.03	2.37	2.37	0.29283	.	.	.	.	.	T	0.00241	0.0007	N	0.00170	-1.935	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	8	0.07325	T	0.83	.	6.1109	0.20100	0.0:0.0:0.6964:0.3036	rs3737859;rs52809414;rs3737859	51	O14633	LCE2B_HUMAN	S	51	ENSP00000414043:I51S;ENSP00000357769:I51S	ENSP00000357769:I51S	I	+	2	0	LCE2B	150926095	0.359000	0.24955	0.981000	0.43875	0.019000	0.09904	0.875000	0.28079	0.211000	0.20683	-0.648000	0.03929	ATC	T|0.841;G|0.159	0.159	strong		0.637	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		G	152659471	T	G	152659471	3	3	22	1	0	0	0	0	1	0	0	0	8666	1435	50	5	154	5	LCE2B	1	152659471	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79	152659471	96591150	654	5762										
KPRP	448834	hgsc.bcm.edu	37	chr1	152732998	152732998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataacagtcgctgtcctcgcCgccccatttcaagctgctct	7	16	2	0	rs140912923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152732998C>T	ENST00000606109.1	+	1	962	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	KPRP_ENST00000368773.1_Missense_Mutation_p.R312C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	312	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCGCCGCCCCATTTC	0.597													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		16798	0.0		0.0	False		,,,				2504	0.0				p.R312C		Atlas-SNP	.											KPRP,NS,carcinoma,0,3	KPRP	152	3	0			c.C934T						PASS	.	C	CYS/ARG	69,4337	62.9+/-100.1	2,65,2136	48	47	48		934	-8.3	0	1	dbSNP_134	48	0,8600		0,0,4300	no	missense	KPRP	NM_001025231.1	180	2,65,6436	TT,TC,CC		0.0,1.566,0.5305	possibly-damaging	312/580	152732998	69,12937	2203	4300	6503	SO:0001583	missense	448834	exon2			CCTCGCCGCCCCA	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.934C>T	1.37:g.152732998C>T	ENSP00000475216:p.Arg312Cys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	110	55	0.5	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	9.290	1.050327	0.19827	0.01566	0.0	ENSG00000203786	ENST00000368773	T	0.16196	2.36	5.3	-8.26	0.01021	.	1.822830	0.02592	N	0.100084	T	0.03305	0.0096	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.43909	-0.9362	10	0.72032	D	0.01	-0.013	9.3493	0.38129	0.1476:0.6376:0.1235:0.0913	.	312	Q5T749	KPRP_HUMAN	C	312	ENSP00000357762:R312C	ENSP00000357762:R312C	R	+	1	0	KPRP	150999622	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.771000	0.04699	-1.006000	0.03412	-0.502000	0.04539	CGC	C|0.994;T|0.006	0.006	strong		0.597	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732998	C	T	152732998	3	4	22	1	0	0	0	0	1	0	0	0	8436	652	23	1	936	1	KPRP	1	152732998	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73527	152732998	96517623	655	5763										
LCE1C	353133	hgsc.bcm.edu	37	chr1	152777874	152777874	+	Silent	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacactttgggggacacttTggggtggggcacttgggagg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152777874T>A	ENST00000607093.1	-	1	80	c.81A>T	c.(79-81)ccA>ccT	p.P27P	LCE1C_ENST00000368768.1_Silent_p.P27P			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	27	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggggacactttggggTGgggc	0.647																																					p.P27P		Atlas-SNP	.											.	LCE1C	40	.	0			c.A81T						PASS	.						46	47	46					1																	152777874		2203	4300	6503	SO:0001819	synonymous_variant	353133	exon2			ACACTTTGGGGTG		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.81A>T	1.37:g.152777874T>A		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	403	21	0.0521092	NM_178351		Silent	SNP	ENST00000607093.1	37	CCDS1026.1																																																																																			.	.	none		0.647	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		A	152777874	T	A	152777874	2	1	22	1	0	0	0	0	0	0	0	1	8661	1799	63	5		5	LCE1C	1	152777874	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44876	152777874	96472747	656	5764	116	2								
LCE1C	353133	hgsc.bcm.edu	37	chr1	152777877	152777877	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactttgggggacactttggGgtggggcacttgggagggca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152777877G>A	ENST00000607093.1	-	1	77	c.78C>T	c.(76-78)acC>acT	p.T26T	LCE1C_ENST00000368768.1_Silent_p.T26T			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	26	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gacactttggggTGgggcact	0.647																																					p.T26T		Atlas-SNP	.											.	LCE1C	40	.	0			c.C78T						PASS	.						45	46	46					1																	152777877		2203	4300	6503	SO:0001819	synonymous_variant	353133	exon2			CTTTGGGGTGGGG		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.78C>T	1.37:g.152777877G>A		Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	409	29	0.0709046	NM_178351		Silent	SNP	ENST00000607093.1	37	CCDS1026.1																																																																																			.	.	none		0.647	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		A	152777877	G	A	152777877	2	1	22	1	0	0	0	0	0	0	0	1	8661	1219	43	2		2	LCE1C	1	152777877	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	152777877	96472744	657	5765	116	2								
IVL	3713	hgsc.bcm.edu	37	chr1	152882610	152882610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcttaagcaggagaaaAcacaaagggatcagcagcta	11	8	1	1	rs2229496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152882610A>G	ENST00000368764.3	+	2	401	c.337A>G	c.(337-339)Aca>Gca	p.T113A	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	113			T -> A (in dbSNP:rs2229496).		isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGAGAAAACACAAAGGGA	0.493													G|||	2072	0.413738	0.6808	0.2997	5008	,	,		21641	0.5615		0.1083	False		,,,				2504	0.2955				p.T113A		Atlas-SNP	.											.	IVL	100	.	0			c.A337G						PASS	.	G	ALA/THR	2534,1872	542.0+/-375.9	740,1054,409	57	60	59		337	-0.6	0	1	dbSNP_98	59	789,7811	783.7+/-407.6	38,713,3549	yes	missense	IVL	NM_005547.2	58	778,1767,3958	GG,GA,AA		9.1744,42.4875,25.5497	benign	113/586	152882610	3323,9683	2203	4300	6503	SO:0001583	missense	3713	exon2			GAGAAAACACAAA	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.337A>G	1.37:g.152882610A>G	ENSP00000357753:p.Thr113Ala	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	131	130	0.992366	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	856	0.39194139194139194	342	0.6951219512195121	101	0.27900552486187846	333	0.5821678321678322	80	0.10554089709762533	G	0.819	-0.749185	0.03065	0.575125	0.091744	ENSG00000163207	ENST00000368764	T	0.06849	3.25	3.65	-0.585	0.11698	.	.	.	.	.	T	0.00637	0.0021	N	0.02539	-0.55	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.44982	-0.9292	8	0.08381	T	0.77	.	4.9328	0.13926	0.51:0.164:0.326:0.0	rs2229496;rs2339485;rs59054145;rs2229496	113	P07476	INVO_HUMAN	A	113	ENSP00000357753:T113A	ENSP00000357753:T113A	T	+	1	0	IVL	151149234	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.796000	0.04575	-0.530000	0.06349	-0.441000	0.05720	ACA	A|0.668;G|0.332	0.332	strong		0.493	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		G	152882610	A	G	152882610	3	3	22	1	0	0	0	0	1	0	0	0	7929	43	2	2	339	2	IVL	1	152882610	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	104733	152882610	96368011	658	5766			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
IVL	3713	hgsc.bcm.edu	37	chr1	152882811	152882811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagcacccggagcagcagGaggggcagctggagctccca	16	12	0	1	rs75111974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152882811G>A	ENST00000368764.3	+	2	602	c.538G>A	c.(538-540)Gag>Aag	p.E180K	IVL_ENST00000392667.2_Missense_Mutation_p.E34K			P07476	INVO_HUMAN	involucrin	180	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcaggaggggcagct	0.647													G|||	107	0.0213658	0.0779	0.0058	5008	,	,		15888	0.0		0.0	False		,,,				2504	0.0				p.E180K		Atlas-SNP	.											.	IVL	100	.	0			c.G538A						PASS	.	G	LYS/GLU	255,4147		3,249,1949	13	15	14		538	0.1	0	1	dbSNP_131	14	2,8584		0,2,4291	no	missense	IVL	NM_005547.2	56	3,251,6240	AA,AG,GG		0.0233,5.7928,1.9787	possibly-damaging	180/586	152882811	257,12731	2201	4293	6494	SO:0001583	missense	3713	exon2			CAGCAGGAGGGGC	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.538G>A	1.37:g.152882811G>A	ENSP00000357753:p.Glu180Lys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	205	112	0.546341	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	G	9.931	1.214712	0.22289	0.057928	2.33E-4	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11495	3.0;2.77	3.55	0.138	0.14793	.	.	.	.	.	T	0.03520	0.0101	L	0.38531	1.155	0.09310	N	1	P	0.38280	0.625	B	0.39738	0.308	T	0.39761	-0.9598	9	0.25106	T	0.35	.	12.3464	0.55124	0.0:0.5062:0.4938:0.0	rs62641593	180	P07476	INVO_HUMAN	K	180;34	ENSP00000357753:E180K;ENSP00000376435:E34K	ENSP00000357753:E180K	E	+	1	0	IVL	151149435	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.353000	0.20130	0.285000	0.22329	-0.662000	0.03851	GAG	G|0.980;A|0.020	0.020	strong		0.647	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		A	152882811	G	A	152882811	3	1	22	1	0	0	0	0	1	0	0	0	7929	1175	41	2	540	2	IVL	1	152882811	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201	152882811	96367810	659	5767			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
IVL	3713	hgsc.bcm.edu	37	chr1	152883036	152883036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaggaggggcagctggagCtctctgagcagcaggaggga	19	8	1	1	rs4459054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152883036C>T	ENST00000368764.3	+	2	827	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	IVL_ENST00000392667.2_Missense_Mutation_p.L109F			P07476	INVO_HUMAN	involucrin	255	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagctggagctctctgagca	0.657													C|||	107	0.0213658	0.0779	0.0058	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0				p.L255F		Atlas-SNP	.											IVL,NS,carcinoma,-2,1	IVL	100	1	0			c.C763T						PASS	.		PHE/LEU	213,3727		5,203,1762	10	10	10		763	-0.7	0	1	dbSNP_111	10	3,7787		0,3,3892	no	missense	IVL	NM_005547.2	22	5,206,5654	TT,TC,CC		0.0385,5.4061,1.8414	benign	255/586	152883036	216,11514	1970	3895	5865	SO:0001583	missense	3713	exon2			CTGGAGCTCTCTG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.763C>T	1.37:g.152883036C>T	ENSP00000357753:p.Leu255Phe	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	208	88	0.423077	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	C	0.147	-1.096036	0.01843	0.054061	3.85E-4	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11821	2.96;2.74	0.329	-0.658	0.11428	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	B	0.32245	0.361	B	0.28305	0.088	T	0.47328	-0.9126	9	0.11794	T	0.64	.	4.7855	0.13223	0.3488:0.6511:0.0:1.0E-4	rs4459054;rs7413034	255	P07476	INVO_HUMAN	F	255;109	ENSP00000357753:L255F;ENSP00000376435:L109F	ENSP00000357753:L255F	L	+	1	0	IVL	151149660	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.401000	0.07232	-0.793000	0.04475	0.123000	0.15791	CTC	C|0.986;T|0.014	0.014	strong		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		T	152883036	C	T	152883036	3	4	22	1	0	0	0	0	1	0	0	0	7929	797	28	2	765	2	IVL	1	152883036	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	225	152883036	96367585	660	5768			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
IVL	3713	hgsc.bcm.edu	37	chr1	152883608	152883608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactgaagcatctggagcaGcagcaggggcagttggaggt	16	8	1	1	rs7545413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152883608G>A	ENST00000368764.3	+	2	1399	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	IVL_ENST00000392667.2_Silent_p.Q299Q			P07476	INVO_HUMAN	involucrin	445	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTGGAGCAGCAGCAGGGGC	0.632													g|||	2065	0.41234	0.6808	0.2997	5008	,	,		19909	0.5615		0.1083	False		,,,				2504	0.2883				p.Q445Q		Atlas-SNP	.											.	IVL	100	.	0			c.G1335A						PASS	.	G		2399,1957		689,1021,468	22	26	25		1335	2.2	0	1	dbSNP_116	25	760,7786		39,682,3552	no	coding-synonymous	IVL	NM_005547.2		728,1703,4020	AA,AG,GG		8.893,44.9265,24.4846		445/586	152883608	3159,9743	2178	4273	6451	SO:0001819	synonymous_variant	3713	exon2			GGAGCAGCAGCAG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1335G>A	1.37:g.152883608G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	190	186	0.978947	NM_005547	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			G|0.664;A|0.336	0.336	strong		0.632	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		A	152883608	G	A	152883608	2	1	22	1	0	0	0	0	0	0	0	1	7929	962	34	2		2	IVL	1	152883608	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	572	152883608	96367013	661	5769			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
IVL	3713	hgsc.bcm.edu	37	chr1	152883680	152883680	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagcaggaggagaagcaActggagctcccagagcagca	15	10	0	2	rs7535306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152883680A>G	ENST00000368764.3	+	2	1471	c.1407A>G	c.(1405-1407)caA>caG	p.Q469Q	IVL_ENST00000392667.2_Silent_p.Q323Q			P07476	INVO_HUMAN	involucrin	469	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAAGCAACTGGAGCTCC	0.617													G|||	2071	0.413538	0.6808	0.2997	5008	,	,		18638	0.5615		0.1083	False		,,,				2504	0.2945				p.Q469Q		Atlas-SNP	.											IVL,NS,lymphoid_neoplasm,+1,1	IVL	100	1	0			c.A1407G						PASS	.	G		2401,1947		681,1039,454	42	50	48		1407	-4.9	0	1	dbSNP_116	48	752,7780		41,670,3555	yes	coding-synonymous	IVL	NM_005547.2		722,1709,4009	GG,GA,AA		8.8139,44.7792,24.4798		469/586	152883680	3153,9727	2174	4266	6440	SO:0001819	synonymous_variant	3713	exon2			GAAGCAACTGGAG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1407A>G	1.37:g.152883680A>G		Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	213	211	0.99061	NM_005547	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			A|0.667;G|0.333	0.333	strong		0.617	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		G	152883680	A	G	152883680	2	3	22	1	0	0	0	0	0	0	0	1	7929	40	2	2		2	IVL	1	152883680	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72	152883680	96366941	662	5770			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
IVL	3713	hgsc.bcm.edu	37	chr1	152883711	152883711	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcagcaagagggccagGtgaagcacctggagaagcag	16	9	0	4	rs7545520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152883711G>C	ENST00000368764.3	+	2	1502	c.1438G>C	c.(1438-1440)Gtg>Ctg	p.V480L	IVL_ENST00000392667.2_Missense_Mutation_p.V334L			P07476	INVO_HUMAN	involucrin	480	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].		V -> L (in dbSNP:rs7545520).		isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGGGCCAGGTGAAGCACCT	0.617													C|||	2065	0.41234	0.6808	0.2997	5008	,	,		18908	0.5615		0.1083	False		,,,				2504	0.2883				p.V480L		Atlas-SNP	.											.	IVL	100	.	0			c.G1438C						PASS	.	C	LEU/VAL	2393,1961		673,1047,457	53	57	56		1438	-0.1	0	1	dbSNP_116	56	744,7794		37,670,3562	yes	missense	IVL	NM_005547.2	32	710,1717,4019	CC,CG,GG		8.714,45.039,24.3329	benign	480/586	152883711	3137,9755	2177	4269	6446	SO:0001583	missense	3713	exon2			GGCCAGGTGAAGC	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1438G>C	1.37:g.152883711G>C	ENSP00000357753:p.Val480Leu	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	856	0.39194139194139194	342	0.6951219512195121	101	0.27900552486187846	333	0.5821678321678322	80	0.10554089709762533	C	0.006	-2.019429	0.00418	0.54961	0.08714	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10668	3.1;2.85	2.3	-0.118	0.13547	.	.	.	.	.	T	0.00666	0.0022	N	0.00321	-1.65	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.46442	-0.9191	8	0.25751	T	0.34	.	6.9492	0.24536	0.1867:0.3029:0.5104:0.0	rs7545520;rs52815615	480	P07476	INVO_HUMAN	L	480;334	ENSP00000357753:V480L;ENSP00000376435:V334L	ENSP00000357753:V480L	V	+	1	0	IVL	151150335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-0.629000	0.05575	-1.481000	0.00988	GTG	G|0.646;C|0.354	0.354	strong		0.617	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		C	152883711	G	C	152883711	3	2	22	1	0	0	0	0	1	0	0	0	7929	1261	44	4	1440	4	IVL	1	152883711	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31	152883711	96366910	663	5771			3	32	596608	6	6	1102	N	G_C_A	5.593983e-05
SPRR1A	6698	hgsc.bcm.edu	37	chr1	152957856	152957856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgcctgagccctgccaCcccaaagtgcctgagccctg	11	16	0	2	rs143282605		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:152957856C>G	ENST00000368762.1	+	1	150	c.150C>G	c.(148-150)caC>caG	p.H50Q	SPRR1A_ENST00000307122.2_Missense_Mutation_p.H50Q			P35321	SPR1A_HUMAN	small proline-rich protein 1A	50	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCCACCCCAAAGTGC	0.647																																					p.H50Q		Atlas-SNP	.											.	SPRR1A	17	.	0			c.C150G						PASS	.																																			SO:0001583	missense	6698	exon2			CTGCCACCCCAAA	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.150C>G	1.37:g.152957856C>G	ENSP00000357751:p.His50Gln	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	125	24	0.192	NM_001199828	B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	C	3.605	-0.080674	0.07141	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.11169	2.8;2.8	5.64	-8.48	0.00935	.	0.637243	0.13026	N	0.419668	T	0.01222	0.0040	.	.	.	0.09310	N	0.999997	B	0.30326	0.276	B	0.32393	0.145	T	0.37009	-0.9724	9	0.29301	T	0.29	-0.4448	1.0644	0.01608	0.3555:0.2828:0.17:0.1916	.	50	P35321	SPR1A_HUMAN	Q	50	ENSP00000307340:H50Q;ENSP00000357751:H50Q	ENSP00000307340:H50Q	H	+	3	2	SPRR1A	151224480	0.020000	0.18652	0.125000	0.21846	0.298000	0.27526	-1.221000	0.02968	-1.749000	0.01330	-0.300000	0.09419	CAC	.	.	weak		0.647	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		G	152957856	C	G	152957856	3	3	22	1	0	0	0	0	1	0	0	0	15094	506	18	4	152	4	SPRR1A	1	152957856	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74145	152957856	96292765	664	5772										
PGLYRP3	114771	hgsc.bcm.edu	37	chr1	153276449	153276449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcataggagatcagacccTctgcagctgataaggcagca	12	10	2	3	rs41264632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153276449T>C	ENST00000290722.1	-	4	465	c.413A>G	c.(412-414)gAg>gGg	p.E138G		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	138					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.E138G(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCAGACCCTCTGCAGCTGA	0.527													T|||	203	0.0405351	0.0371	0.0432	5008	,	,		20460	0.1062		0.004	False		,,,				2504	0.0133				p.E138G		Atlas-SNP	.											PGLYRP3,NS,carcinoma,0,1	PGLYRP3	55	1	1	Substitution - Missense(1)	stomach(1)	c.A413G						scavenged	.	T	GLY/GLU	113,4293	83.9+/-122.4	1,111,2091	66	67	67		413	2.9	0.9	1	dbSNP_127	67	32,8568	19.8+/-62.0	1,30,4269	yes	missense	PGLYRP3	NM_052891.1	98	2,141,6360	CC,CT,TT		0.3721,2.5647,1.1149	probably-damaging	138/342	153276449	145,12861	2203	4300	6503	SO:0001583	missense	114771	exon4			AGACCCTCTGCAG	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.413A>G	1.37:g.153276449T>C	ENSP00000290722:p.Glu138Gly	Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_052891	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	90	0.04120879120879121	12	0.024390243902439025	11	0.03038674033149171	64	0.11188811188811189	3	0.00395778364116095	T	12.84	2.059855	0.36373	0.025647	0.003721	ENSG00000159527	ENST00000290722	T	0.14516	2.5	4.15	2.91	0.33838	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.127266	0.35677	N	0.003057	T	0.05731	0.0150	L	0.61218	1.895	0.25854	N	0.983909	B	0.19935	0.04	B	0.26969	0.075	T	0.27606	-1.0069	10	0.66056	D	0.02	-60.0862	5.5581	0.17127	0.0:0.1501:0.0:0.8499	rs41264632	138	Q96LB9	PGRP3_HUMAN	G	138	ENSP00000290722:E138G	ENSP00000290722:E138G	E	-	2	0	PGLYRP3	151543073	0.000000	0.05858	0.941000	0.38009	0.882000	0.50991	0.086000	0.14935	0.721000	0.32231	0.528000	0.53228	GAG	T|0.982;C|0.018	0.018	strong		0.527	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		C	153276449	T	C	153276449	3	2	22	1	0	0	0	0	1	0	0	0	11795	1551	54	3	628	3	PGLYRP3	1	153276449	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	318593	153276449	95974172	665	5773										
S100A5	6276	hgsc.bcm.edu	37	chr1	153509892	153509892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggctcttcatcaagtcAtcgatgctgctctccttcat	6	14	6	0	rs2248745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153509892A>G	ENST00000368718.1	-	4	440	c.159T>C	c.(157-159)gaT>gaC	p.D53D	BX470102.3_ENST00000420695.1_RNA|S100A5_ENST00000368717.2_Silent_p.D53D|S100A6_ENST00000368719.4_5'Flank|S100A6_ENST00000368720.2_5'Flank|S100A6_ENST00000496817.1_5'Flank|S100A5_ENST00000359215.1_Silent_p.D71D	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	53	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCATCAAGTCATCGATGCTGC	0.562													A|||	575	0.114816	0.1967	0.1066	5008	,	,		20539	0.0724		0.0905	False		,,,				2504	0.0787				p.D53D		Atlas-SNP	.											S100A5,NS,carcinoma,-2,1	S100A5	10	1	0			c.T159C						PASS	.	A		854,3552	335.2+/-303.8	82,690,1431	246	204	218		159	-5.2	0.1	1	dbSNP_100	218	826,7774	190.7+/-237.1	43,740,3517	no	coding-synonymous	S100A5	NM_002962.1		125,1430,4948	GG,GA,AA		9.6047,19.3827,12.9171		53/93	153509892	1680,11326	2203	4300	6503	SO:0001819	synonymous_variant	6276	exon4			CAAGTCATCGATG	Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"S100 calcium binding proteins", "EF-hand domain containing"	10495	protein-coding gene	gene with protein product		176991	"S100 calcium-binding protein A5"	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.159T>C	1.37:g.153509892A>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	176	81	0.460227	NM_002962	Q52LE7|Q5RHS3	Silent	SNP	ENST00000368718.1	37	CCDS1041.2																																																																																			A|0.877;G|0.123	0.123	strong		0.562	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037719.1	NM_002962		G	153509892	A	G	153509892	2	3	22	1	0	0	0	0	0	0	0	1	13781	214	8	2		2	S100A5	1	153509892	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	233443	153509892	95740729	666	5774										
S100A3	6274	hgsc.bcm.edu	37	chr1	153520203	153520203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagtccttgaagtactcGtggcagtagagacagaggca	15	8	0	3	rs41265164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153520203G>A	ENST00000368713.3	-	3	457	c.261C>T	c.(259-261)caC>caT	p.H87H	S100A3_ENST00000368712.1_Silent_p.H87H|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	87						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAAGTACTCGTGGCAGTAGA	0.592													G|||	760	0.151757	0.4228	0.1037	5008	,	,		19755	0.0149		0.0517	False		,,,				2504	0.0634				p.H87H		Atlas-SNP	.											.	S100A3	7	.	0			c.C261T						PASS	.	G		1633,2773	502.5+/-365.3	318,997,888	157	139	145		261	-2.6	1	1	dbSNP_127	145	466,8134	137.9+/-194.8	16,434,3850	no	coding-synonymous	S100A3	NM_002960.1		334,1431,4738	AA,AG,GG		5.4186,37.0631,16.1387		87/102	153520203	2099,10907	2203	4300	6503	SO:0001819	synonymous_variant	6274	exon3			GTACTCGTGGCAG	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.261C>T	1.37:g.153520203G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	146	74	0.506849	NM_002960	D3DV51|Q6FGE4	Silent	SNP	ENST00000368713.3	37	CCDS1043.1																																																																																			A|0.147;C|0.000;G|0.853;T|0.000	0.147	strong		0.592	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		A	153520203	G	A	153520203	2	1	22	1	0	0	0	0	0	0	0	1	13779	1136	40	1		1	S100A3	1	153520203	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10311	153520203	95730418	667	5775										
S100A3	6274	hgsc.bcm.edu	37	chr1	153520898	153520898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtatttgtccccacagcGccctgcgtattcctggaagg	10	13	0	0	rs61731550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153520898G>A	ENST00000368713.3	-	2	260	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	S100A3_ENST00000368712.1_Missense_Mutation_p.R22C|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368716.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	22	EF-hand 1.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCCACAGCGCCCTGCGTAT	0.622													G|||	51	0.0101837	0.0363	0.0043	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0				p.R22C		Atlas-SNP	.											.	S100A3	7	.	0			c.C64T						PASS	.	G	CYS/ARG	128,4278	94.4+/-133.1	2,124,2077	153	147	149		64	3.4	0	1	dbSNP_129	149	0,8600		0,0,4300	yes	missense	S100A3	NM_002960.1	180	2,124,6377	AA,AG,GG		0.0,2.9051,0.9842	probably-damaging	22/102	153520898	128,12878	2203	4300	6503	SO:0001583	missense	6274	exon2			CACAGCGCCCTGC	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.64C>T	1.37:g.153520898G>A	ENSP00000357702:p.Arg22Cys	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	51	28	0.54902	NM_002960	D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	CCDS1043.1	17	0.007783882783882784	14	0.028455284552845527	3	0.008287292817679558	0	0.0	0	0.0	G	12.38	1.921365	0.33908	0.029051	0.0	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.12039	2.72;2.72	5.42	3.43	0.39272	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.495237	0.19790	N	0.106001	T	0.09512	0.0234	M	0.67569	2.06	0.18873	N	0.999985	D	0.64830	0.994	P	0.48770	0.589	T	0.09751	-1.0660	10	0.87932	D	0	.	6.1806	0.20470	0.094:0.0:0.7225:0.1835	.	22	P33764	S10A3_HUMAN	C	22	ENSP00000357702:R22C;ENSP00000357701:R22C	ENSP00000357701:R22C	R	-	1	0	S100A3	151787522	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.236000	0.32683	1.295000	0.44724	0.643000	0.83706	CGC	G|0.991;A|0.009	0.009	strong		0.622	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		A	153520898	G	A	153520898	3	1	22	1	0	0	0	0	1	0	0	0	13779	1087	38	1	249	1	S100A3	1	153520898	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	695	153520898	95729723	668	5776										
S100A3	6274	hgsc.bcm.edu	37	chr1	153520954	153520954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaccgcctgctccagaggcCtggccatcctcactgtcaca	8	18	2	1	rs36022742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153520954C>T	ENST00000368713.3	-	2	204	c.8G>A	c.(7-9)aGg>aAg	p.R3K	S100A3_ENST00000368712.1_Missense_Mutation_p.R3K|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368716.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	3			R -> K (in dbSNP:rs36022742).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCAGAGGCCTGGCCATCCT	0.602													C|||	713	0.142372	0.3896	0.0994	5008	,	,		17421	0.0149		0.0517	False		,,,				2504	0.0634				p.R3K		Atlas-SNP	.											.	S100A3	7	.	0			c.G8A						PASS	.	C	LYS/ARG	1514,2892	471.8+/-356.2	272,970,961	105	105	105		8	0.8	0	1	dbSNP_126	105	465,8135	135.4+/-192.6	16,433,3851	yes	missense	S100A3	NM_002960.1	26	288,1403,4812	TT,TC,CC		5.407,34.3622,15.2161	benign	3/102	153520954	1979,11027	2203	4300	6503	SO:0001583	missense	6274	exon2			AGAGGCCTGGCCA	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.8G>A	1.37:g.153520954C>T	ENSP00000357702:p.Arg3Lys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_002960	D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	CCDS1043.1	255	0.11675824175824176	180	0.36585365853658536	33	0.09116022099447514	9	0.015734265734265736	33	0.04353562005277045	C	7.322	0.617075	0.14129	0.343622	0.05407	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.13538	2.58;2.58	5.05	0.817	0.18773	EF-hand-like domain (1);	0.427486	0.25430	N	0.030730	T	0.02418	0.0074	N	0.14661	0.345	0.80722	P	0.0	B	0.22276	0.067	B	0.15052	0.012	T	0.40739	-0.9547	9	0.56958	D	0.05	.	8.5814	0.33630	0.0:0.4703:0.4447:0.085	rs36022742;rs59565142;rs61732314	3	P33764	S10A3_HUMAN	K	3	ENSP00000357702:R3K;ENSP00000357701:R3K	ENSP00000357701:R3K	R	-	2	0	S100A3	151787578	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.160000	0.10041	-0.025000	0.13918	-0.163000	0.13421	AGG	C|0.861;T|0.139	0.139	strong		0.602	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		T	153520954	C	T	153520954	3	4	22	1	0	0	0	0	1	0	0	0	13779	681	24	2	305	2	S100A3	1	153520954	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56	153520954	95729667	669	5777										
S100A2	6273	hgsc.bcm.edu	37	chr1	153534027	153534027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcactgttctcatccaggCtgcccatcagcttcttcagc	8	15	5	0	rs1047325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153534027C>T	ENST00000368708.3	-	3	554	c.182G>A	c.(181-183)aGc>aAc	p.S61N	S100A2_ENST00000497140.1_Missense_Mutation_p.S28N|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368710.1_Missense_Mutation_p.S61N|S100A2_ENST00000487430.2_Missense_Mutation_p.S61N|S100A2_ENST00000368709.1_Missense_Mutation_p.S61N	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CTCATCCAGGCTGCCCATCAG	0.537													T|||	757	0.151158	0.4463	0.0821	5008	,	,		21128	0.0109		0.0527	False		,,,				2504	0.047				p.S61N		Atlas-SNP	.											.	S100A2	14	.	0			c.G182A						PASS	.	T	ASN/SER	1775,2631	643.4+/-397.8	363,1049,791	235	219	224		182	-4.6	0	1	dbSNP_86	224	441,8159	799.7+/-407.4	15,411,3874	yes	missense	S100A2	NM_005978.3	46	378,1460,4665	TT,TC,CC		5.1279,40.286,17.0383	benign	61/98	153534027	2216,10790	2203	4300	6503	SO:0001583	missense	6273	exon3			TCCAGGCTGCCCA	BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"S100 calcium binding proteins", "EF-hand domain containing"	10492	protein-coding gene	gene with protein product		176993	"S100 calcium-binding protein A2"	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.182G>A	1.37:g.153534027C>T	ENSP00000357697:p.Ser61Asn	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	250	248	0.992	NM_005978	O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	CCDS1044.1	274	0.12545787545787546	208	0.42276422764227645	30	0.08287292817679558	4	0.006993006993006993	32	0.04221635883905013	T	5.767	0.325859	0.10900	0.40286	0.051279	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.14266	2.52;2.52;2.52	4.77	-4.58	0.03410	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.948424	0.08683	N	0.909215	T	0.01940	0.0061	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43940	-0.9360	8	0.44086	T	0.13	.	1.7661	0.03002	0.1195:0.308:0.2454:0.3271	rs1047325;rs3174843;rs52793522;rs56586255;rs60177723;rs1047325	62	P29034	S10A2_HUMAN	N	61;61;61;102	ENSP00000357697:S61N;ENSP00000357699:S61N;ENSP00000357698:S61N	ENSP00000357696:S102N	S	-	2	0	S100A2	151800651	0.019000	0.18553	0.000000	0.03702	0.286000	0.27126	0.583000	0.23849	-1.416000	0.02019	-0.254000	0.11334	AGC	C|0.841;T|0.159	0.159	strong		0.537	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		T	153534027	C	T	153534027	3	4	22	1	0	0	0	0	1	0	0	0	13778	797	28	2	115	2	S100A2	1	153534027	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13073	153534027	95716594	670	5778										
NPR1	4881	hgsc.bcm.edu	37	chr1	153662340	153662340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccctgtgcggaacgggcGgctacacgcctgcgaggtag	16	13	0	0	rs35240348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153662340G>A	ENST00000368680.3	+	19	3288	c.2816G>A	c.(2815-2817)cGg>cAg	p.R939Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	939	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.		R -> Q (in dbSNP:rs35240348). {ECO:0000269|PubMed:17344846}.		body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CGGAACGGGCGGCTACACGCC	0.672													G|||	502	0.10024	0.2224	0.0634	5008	,	,		14790	0.001		0.0726	False		,,,				2504	0.092				p.R939Q	Pancreas(141;1349 1870 15144 15830 40702)	Atlas-SNP	.											.	NPR1	104	.	0			c.G2816A						PASS	.	G	GLN/ARG	837,3561		84,669,1446	32	31	31		2816	-0.3	1	1	dbSNP_126	31	660,7934		21,618,3658	yes	missense	NPR1	NM_000906.3	43	105,1287,5104	AA,AG,GG		7.6798,19.0314,11.5225	benign	939/1062	153662340	1497,11495	2199	4297	6496	SO:0001583	missense	4881	exon19			ACGGGCGGCTACA	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2816G>A	1.37:g.153662340G>A	ENSP00000357669:p.Arg939Gln	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	160	85	0.53125	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	191	0.08745421245421245	111	0.22560975609756098	29	0.08011049723756906	1	0.0017482517482517483	50	0.06596306068601583	G	3.607	-0.080328	0.07141	0.190314	0.076798	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.84298	-1.83	2.87	-0.294	0.12831	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.520095	0.17319	N	0.178596	T	0.45696	0.1355	N	0.12831	0.26	0.46499	P	9.280000000000399E-4	B;B	0.12630	0.006;0.001	B;B	0.04013	0.001;0.001	T	0.07462	-1.0771	9	0.34782	T	0.22	.	2.5862	0.04831	0.4105:0.0:0.3539:0.2356	rs35240348;rs61737918	418;939	B7Z4Y7;P16066	.;ANPRA_HUMAN	Q	939;418;120	ENSP00000357669:R939Q	ENSP00000357666:R120Q	R	+	2	0	NPR1	151928964	1.000000	0.71417	0.981000	0.43875	0.463000	0.32649	2.021000	0.41020	-0.063000	0.13065	0.462000	0.41574	CGG	G|0.890;A|0.110	0.110	strong		0.672	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153662340	G	A	153662340	3	1	22	1	0	0	0	0	1	0	0	0	10594	1116	39	1	2890	1	NPR1	1	153662340	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128313	153662340	95588281	671	5779										
INTS3	65123	hgsc.bcm.edu	37	chr1	153740285	153740285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctcctgtgccacctcacGccctccatctacacagaggt	8	18	2	1	rs61736048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153740285G>A	ENST00000318967.2	+	21	2794	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	INTS3_ENST00000512605.1_Silent_p.T536T|INTS3_ENST00000435409.2_Silent_p.T742T|INTS3_ENST00000456435.1_Silent_p.T536T|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	743					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCACCTCACGCCCTCCATCT	0.592													G|||	61	0.0121805	0.0446	0.0029	5008	,	,		18290	0.0		0.0	False		,,,				2504	0.0				p.T742T		Atlas-SNP	.											.	INTS3	83	.	0			c.G2226A						PASS	.	G		170,4236	112.9+/-151.0	2,166,2035	91	75	81		2226	-11.7	0.1	1	dbSNP_129	81	0,8600		0,0,4300	no	coding-synonymous	INTS3	NM_023015.3		2,166,6335	AA,AG,GG		0.0,3.8584,1.3071		742/1043	153740285	170,12836	2203	4300	6503	SO:0001819	synonymous_variant	65123	exon21			CCTCACGCCCTCC	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2226G>A	1.37:g.153740285G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	CCDS1052.1																																																																																			G|0.983;A|0.017	0.017	strong		0.592	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		A	153740285	G	A	153740285	2	1	22	1	0	0	0	0	0	0	0	1	7779	1074	38	1		1	INTS3	1	153740285	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77945	153740285	95510336	672	5780										
INTS3	11000	hgsc.bcm.edu	37	chr1	153745128	153745128	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctagtttttagccagacGccaattctccaggcgctgca	8	14	2	1	rs6663011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153745128G>C	ENST00000368661.3	+	0	0				SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000435409.2_Silent_p.T945T|INTS3_ENST00000512605.1_Silent_p.T805T|INTS3_ENST00000456435.1_Silent_p.T805T|INTS3_ENST00000318967.2_Silent_p.T945T|INTS3_ENST00000476843.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGCCAGACGCCAATTCTCC	0.507													C|||	771	0.153954	0.4266	0.0749	5008	,	,		19407	0.0129		0.0736	False		,,,				2504	0.0695				p.T945T		Atlas-SNP	.											INTS3,NS,carcinoma,0,1	INTS3	83	1	0			c.G2835C						scavenged	.	C		1632,2774	658.3+/-400.4	295,1042,866	47	50	49		2835	1.3	1	1	dbSNP_116	49	598,8002	791.8+/-407.5	14,570,3716	no	coding-synonymous	INTS3	NM_023015.3		309,1612,4582	CC,CG,GG		6.9535,37.0404,17.1459		945/1043	153745128	2230,10776	2203	4300	6503	SO:0001631	upstream_gene_variant	65123	exon28			CCAGACGCCAATT	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745128G>C	Exception_encountered	Somatic	173	4	0.0231214		WXS	Illumina HiSeq	Phase_I	208	115	0.552885	NM_023015	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	CCDS1053.1																																																																																			C|0.159;G|0.841;T|0.000	0.159	strong		0.507	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		C	153745128	G	C	153745128	1	2	22	0	1	0	0	0	0	0	0	0	7779	1074	38	4		4	INTS3	1	153745128	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4843	153745128	95505493	673	5781										
SLC27A3	11000	hgsc.bcm.edu	37	chr1	153748219	153748219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagcgcgccgcgcacacCtttctcattcacggctcgcg	10	18	2	0	rs36064263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153748219C>T	ENST00000368661.3	+	1	452	c.387C>T	c.(385-387)acC>acT	p.T129T	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000271857.2_Silent_p.T210T	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	129					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGCGCACACCTTTCTCATTC	0.721													C|||	599	0.119609	0.3048	0.062	5008	,	,		14222	0.0129		0.0716	False		,,,				2504	0.0695				p.T129T		Atlas-SNP	.											.	SLC27A3	42	.	0			c.C387T						PASS	.	C		702,3060		49,604,1228	11	13	12		387	3.6	1	1	dbSNP_126	12	424,7226		6,412,3407	no	coding-synonymous	SLC27A3	NM_024330.1		55,1016,4635	TT,TC,CC		5.5425,18.6603,9.8668		129/731	153748219	1126,10286	1881	3825	5706	SO:0001819	synonymous_variant	11000	exon1			GCACACCTTTCTC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.387C>T	1.37:g.153748219C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	17	8	0.470588	NM_024330	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	CCDS1053.1																																																																																			C|0.897;T|0.103	0.103	strong		0.721	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		T	153748219	C	T	153748219	2	4	22	1	0	0	0	0	0	0	0	1	14527	668	24	2		2	SLC27A3	1	153748219	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3091	153748219	95502402	674	5782										
SLC27A3	11000	hgsc.bcm.edu	37	chr1	153750650	153750650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcagagcaaggcagaacGtggccataaggtccggctgg	14	10	1	2	rs35102232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153750650G>A	ENST00000368661.3	+	5	1381	c.1316G>A	c.(1315-1317)cGt>cAt	p.R439H	SLC27A3_ENST00000271857.2_Missense_Mutation_p.R520H|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	439			R -> H (in dbSNP:rs35102232).		fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGCAGAACGTGGCCATAAG	0.627													G|||	89	0.0177716	0.0628	0.0072	5008	,	,		17430	0.0		0.001	False		,,,				2504	0.0				p.R439H		Atlas-SNP	.											.	SLC27A3	42	.	0			c.G1316A						PASS	.	G	HIS/ARG	257,4147		5,247,1950	32	38	36		1316	-2.7	0	1	dbSNP_126	36	2,8598		0,2,4298	yes	missense	SLC27A3	NM_024330.1	29	5,249,6248	AA,AG,GG		0.0233,5.8356,1.9917	possibly-damaging	439/731	153750650	259,12745	2202	4300	6502	SO:0001583	missense	11000	exon5			CAGAACGTGGCCA	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1316G>A	1.37:g.153750650G>A	ENSP00000357650:p.Arg439His	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	36	16	0.444444	NM_024330	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	39|39	0.017857142857142856|0.017857142857142856	34|34	0.06910569105691057|0.06910569105691057	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.72|13.72	2.320062|2.320062	0.41096|0.41096	0.058356|0.058356	2.33E-4|2.33E-4	ENSG00000143554|ENSG00000143554	ENST00000271857;ENST00000368661|ENST00000458027	T;T|.	0.41758|.	0.99;0.99|.	5.03|5.03	-2.66|-2.66	0.06077|0.06077	AMP-dependent synthetase/ligase (1);|.	0.933680|.	0.09084|.	N|.	0.850843|.	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.83312|0.83312	2.635|2.635	0.09310|0.09310	N|N	1|1	B|.	0.19073|.	0.033|.	B|.	0.21546|.	0.035|.	T|T	0.49303|0.49303	-0.8954|-0.8954	10|5	0.42905|.	T|.	0.14|.	1.8444|1.8444	7.2084|7.2084	0.25919|0.25919	0.4489:0.1139:0.4372:0.0|0.4489:0.1139:0.4372:0.0	rs35102232|rs35102232	439|.	Q5K4L6|.	S27A3_HUMAN|.	H|M	520;439|144	ENSP00000271857:R520H;ENSP00000357650:R439H|.	ENSP00000271857:R520H|.	R|V	+|+	2|1	0|0	SLC27A3|SLC27A3	152017274|152017274	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.193000|0.193000	0.23685|0.23685	-1.444000|-1.444000	0.02403|0.02403	-0.720000|-0.720000	0.04935|0.04935	-0.605000|-0.605000	0.04089|0.04089	CGT|GTG	G|0.979;A|0.021	0.021	strong		0.627	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		A	153750650	G	A	153750650	3	1	22	1	0	0	0	0	1	0	0	0	14527	1145	40	1	1334	1	SLC27A3	1	153750650	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2431	153750650	95499971	675	5783										
GATAD2B	57459	hgsc.bcm.edu	37	chr1	153788927	153788927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggctgcagcctgtgagttGgcagcatcagtcatggcgct	14	10	2	1	rs114813239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:153788927G>A	ENST00000368655.4	-	7	1281	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	346	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTGAGTTGGCAGCATCAG	0.537													G|||	51	0.0101837	0.0371	0.0029	5008	,	,		19938	0.0		0.0	False		,,,				2504	0.0				p.A346A		Atlas-SNP	.											.	GATAD2B	62	.	0			c.C1038T						PASS	.	G		139,4267	99.4+/-138.0	2,135,2066	105	83	90		1038	4.2	1	1	dbSNP_132	90	0,8600		0,0,4300	no	coding-synonymous	GATAD2B	NM_020699.2		2,135,6366	AA,AG,GG		0.0,3.1548,1.0687		346/594	153788927	139,12867	2203	4300	6503	SO:0001819	synonymous_variant	57459	exon7			TGAGTTGGCAGCA	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1038C>T	1.37:g.153788927G>A		Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	307	144	0.469055	NM_020699	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	CCDS1054.1																																																																																			G|0.987;A|0.013	0.013	strong		0.537	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		A	153788927	G	A	153788927	2	1	22	1	0	0	0	0	0	0	0	1	6261	1335	47	2		2	GATAD2B	1	153788927	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38277	153788927	95461694	676	5784										
ATP8B2	57198	hgsc.bcm.edu	37	chr1	154320942	154320942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccattgtgctcaccacAgtcgtctgcatcatgcccgt	8	15	3	1	rs2297607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:154320942A>G	ENST00000368489.3	+	27	3321	c.3321A>G	c.(3319-3321)acA>acG	p.T1107T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1093					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)			TGCTCACCACAGTCGTCTGCA	0.607													G|||	993	0.198283	0.2867	0.1499	5008	,	,		9793	0.126		0.2366	False		,,,				2504	0.1483				p.T1107T		Atlas-SNP	.											.	ATP8B2	158	.	0			c.A3321G						PASS	.	G		1100,3306	719.8+/-409.0	144,812,1247	92	76	81		3321	-9.1	0.3	1	dbSNP_100	81	1956,6644	724.7+/-406.5	242,1472,2586	no	coding-synonymous	ATP8B2	NM_020452.3		386,2284,3833	GG,GA,AA		22.7442,24.966,23.4968		1107/1224	154320942	3056,9950	2203	4300	6503	SO:0001819	synonymous_variant	57198	exon27			CACCACAGTCGTC	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.3321A>G	1.37:g.154320942A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	95	40	0.421053	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	CCDS1066.1																																																																																			G|0.226;N|0.000	0.226	strong		0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		G	154320942	A	G	154320942	2	3	22	1	0	0	0	0	0	0	0	1	1195	175	7	3		3	ATP8B2	1	154320942	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	532015	154320942	94929679	677	5785										
PMVK	10654	hgsc.bcm.edu	37	chr1	154904840	154904840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctacctgagcatactgTtccttgagtggaccagagag	10	12	0	3	rs1891805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:154904840T>C	ENST00000368467.3	-	2	452	c.147A>G	c.(145-147)gaA>gaG	p.E49E		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	49					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCATACTGTTCCTTGAGTG	0.577													C|||	1036	0.206869	0.6407	0.0836	5008	,	,		17611	0.0		0.0636	False		,,,				2504	0.0685				p.E49E		Atlas-SNP	.											.	PMVK	17	.	0			c.A147G						PASS	.	C		2511,1895	543.3+/-376.2	746,1019,438	107	94	99		147	0.6	1	1	dbSNP_92	99	555,8045	793.4+/-407.5	12,531,3757	no	coding-synonymous	PMVK	NM_006556.3		758,1550,4195	CC,CT,TT		6.4535,43.0095,23.5737		49/193	154904840	3066,9940	2203	4300	6503	SO:0001819	synonymous_variant	10654	exon2			ATACTGTTCCTTG	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.147A>G	1.37:g.154904840T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	156	72	0.461538	NM_006556	Q5TZW9	Silent	SNP	ENST00000368467.3	37	CCDS1073.1																																																																																			T|0.769;C|0.231	0.231	strong		0.577	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		C	154904840	T	C	154904840	2	2	22	1	0	0	0	0	0	0	0	1	12144	1722	60	2		2	PMVK	1	154904840	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	583898	154904840	94345781	678	5786										
ZBTB7B	51043	hgsc.bcm.edu	37	chr1	154987526	154987526	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcccgcctgctggagatCccgtgtgtcatcgctgcttg	13	14	1	1	rs11264295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:154987526C>T	ENST00000368426.3	+	3	527	c.390C>T	c.(388-390)atC>atT	p.I130I	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Silent_p.I164I|ZBTB7B_ENST00000535420.1_Silent_p.I130I|ZBTB7B_ENST00000292176.2_Silent_p.I130I	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	130					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCTGGAGATCCCGTGTGTCA	0.617													C|||	3094	0.617812	0.4592	0.6671	5008	,	,		16567	0.9058		0.4513	False		,,,				2504	0.6718				p.I164I		Atlas-SNP	.											ZBTB7B,NS,carcinoma,0,1	ZBTB7B	69	1	0			c.C492T						PASS	.	C		2075,2331		472,1131,600	41	45	43		390	0.6	0.9	1	dbSNP_120	43	3651,4949		771,2109,1420	no	coding-synonymous	ZBTB7B	NM_015872.2		1243,3240,2020	TT,TC,CC		42.4535,47.0949,44.0258		130/540	154987526	5726,7280	2203	4300	6503	SO:0001819	synonymous_variant	51043	exon4			GGAGATCCCGTGT	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.390C>T	1.37:g.154987526C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_001252406	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	CCDS1081.1																																																																																			C|0.487;T|0.513	0.513	strong		0.617	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		T	154987526	C	T	154987526	2	4	22	1	0	0	0	0	0	0	0	1	17551	845	30	2		2	ZBTB7B	1	154987526	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	82686	154987526	94263095	679	5787										
ZBTB7B	51043	hgsc.bcm.edu	37	chr1	154988957	154988957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcaccaccccactacccAccaccctctaccgctgctgc	5	22	1	0	rs2242195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:154988957A>G	ENST00000368426.3	+	4	1553	c.1416A>G	c.(1414-1416)ccA>ccG	p.P472P	ZBTB7B_ENST00000417934.2_Silent_p.P506P|ZBTB7B_ENST00000535420.1_Silent_p.P472P|ZBTB7B_ENST00000292176.2_Silent_p.P472P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	472					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCACTACCCACCACCCTCTA	0.657													G|||	3373	0.673522	0.4811	0.7478	5008	,	,		17839	0.9127		0.5785	False		,,,				2504	0.7321				p.P506P		Atlas-SNP	.											ZBTB7B,NS,carcinoma,+1,1	ZBTB7B	69	1	0			c.A1518G						PASS	.	G		2259,2147	576.8+/-384.3	574,1111,518	103	79	87		1416	-7.6	0.8	1	dbSNP_98	87	4787,3813	538.4+/-383.4	1330,2127,843	no	coding-synonymous	ZBTB7B	NM_015872.2		1904,3238,1361	GG,GA,AA		44.3372,48.729,45.825		472/540	154988957	7046,5960	2203	4300	6503	SO:0001819	synonymous_variant	51043	exon5			CTACCCACCACCC	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1416A>G	1.37:g.154988957A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_001252406	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	CCDS1081.1																																																																																			A|0.422;G|0.578	0.578	strong		0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		G	154988957	A	G	154988957	2	3	22	1	0	0	0	0	0	0	0	1	17551	146	6	2		2	ZBTB7B	1	154988957	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1431	154988957	94261664	680	5788										
DCST2	127579	hgsc.bcm.edu	37	chr1	155006091	155006091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagacaagcccagggtaaaAcctcccacgctgcgaaccac	8	15	0	1	rs10908453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155006091A>G	ENST00000368424.3	-	1	145	c.87T>C	c.(85-87)ggT>ggC	p.G29G	DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST2_ENST00000295536.5_Silent_p.G29G	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	29						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGGTAAAACCTCCCACGC	0.612													G|||	2999	0.598842	0.5416	0.6052	5008	,	,		18636	0.881		0.3608	False		,,,				2504	0.6258				p.G29G		Atlas-SNP	.											.	DCST2	80	.	0			c.T87C						PASS	.	G		2342,2064	566.5+/-381.9	611,1120,472	74	71	72		87	1.6	0	1	dbSNP_120	72	2997,5603	662.2+/-401.9	521,1955,1824	no	coding-synonymous	DCST2	NM_144622.2		1132,3075,2296	GG,GA,AA		34.8488,46.8452,41.0503		29/774	155006091	5339,7667	2203	4300	6503	SO:0001819	synonymous_variant	127579	exon1			GGTAAAACCTCCC	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.87T>C	1.37:g.155006091A>G		Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_144622	Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	CCDS1082.2																																																																																			A|0.513;G|0.487	0.487	strong		0.612	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		G	155006091	A	G	155006091	2	3	22	1	0	0	0	0	0	0	0	1	4303	30	2	2		2	DCST2	1	155006091	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17134	155006091	94244530	681	5789										
DCST1	149095	hgsc.bcm.edu	37	chr1	155006999	155006999	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtttcctgtcactgctctCctgctgggggcaggcgctgg	15	12	2	0	rs6680600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155006999C>T	ENST00000295542.1	+	3	246	c.150C>T	c.(148-150)ctC>ctT	p.L50L	DCST1_ENST00000368419.2_Silent_p.L50L|DCST1_ENST00000423025.2_Silent_p.L50L|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000392480.1_Silent_p.L50L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	50						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCACTGCTCTCCTGCTGGGGG	0.652													C|||	2833	0.565695	0.4266	0.5922	5008	,	,		16607	0.8819		0.3579	False		,,,				2504	0.6227				p.L50L		Atlas-SNP	.											.	DCST1	69	.	0			c.C150T						PASS	.	C	,	1897,2509	533.7+/-373.8	383,1131,689	64	76	72		150,150	4.3	1	1	dbSNP_116	72	2962,5638	451.6+/-362.7	512,1938,1850	no	coding-synonymous,coding-synonymous	DCST1	NM_001143687.2,NM_152494.3	,	895,3069,2539	TT,TC,CC		34.4419,43.0549,37.3597	,	50/682,50/707	155006999	4859,8147	2203	4300	6503	SO:0001819	synonymous_variant	149095	exon3			TGCTCTCCTGCTG	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.150C>T	1.37:g.155006999C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_152494	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	CCDS1083.1																																																																																			C|0.550;T|0.450	0.450	strong		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		T	155006999	C	T	155006999	2	4	22	1	0	0	0	0	0	0	0	1	4302	842	30	2		2	DCST1	1	155006999	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	908	155006999	94243622	682	5790										
DCST1	149095	hgsc.bcm.edu	37	chr1	155019710	155019710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggtcgggggagactccAtgctagcccggcttcttcga	14	11	1	2	rs11264300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155019710A>C	ENST00000295542.1	+	14	1630	c.1534A>C	c.(1534-1536)Atg>Ctg	p.M512L	DCST1_ENST00000368419.2_Missense_Mutation_p.M512L|DCST1_ENST00000392480.1_Missense_Mutation_p.M512L|DCST1_ENST00000423025.2_Missense_Mutation_p.M487L|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	512			M -> L (in dbSNP:rs11264300). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGAGACTCCATGCTAGCCCG	0.532													A|||	2777	0.554513	0.3858	0.5865	5008	,	,		18637	0.8849		0.3569	False		,,,				2504	0.6227				p.M512L		Atlas-SNP	.											DCST1,rectum,carcinoma,0,1	DCST1	69	1	0			c.A1534C						PASS	.	A	LEU/MET,LEU/MET	1798,2608	527.6+/-372.2	350,1098,755	88	86	87		1459,1534	3.7	1	1	dbSNP_120	87	2984,5616	462.0+/-365.6	524,1936,1840	yes	missense,missense	DCST1	NM_001143687.2,NM_152494.3	15,15	874,3034,2595	CC,CA,AA		34.6977,40.808,36.7676	benign,benign	487/682,512/707	155019710	4782,8224	2203	4300	6503	SO:0001583	missense	149095	exon14			GACTCCATGCTAG	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1534A>C	1.37:g.155019710A>C	ENSP00000295542:p.Met512Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	179	179	1	NM_152494	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	1163	0.5325091575091575	179	0.3638211382113821	193	0.5331491712707183	517	0.9038461538461539	274	0.36147757255936674	A	11.83	1.756878	0.31137	0.40808	0.346977	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.88	3.73	0.42828	Dendritic cell-specific transmembrane protein-like (1);	0.190127	0.51477	N	0.000086	T	0.06416	0.0165	L	0.31420	0.93	0.36215	P	0.148416	B;B	0.16166	0.016;0.016	B;B	0.18561	0.022;0.022	T	0.24048	-1.0171	9	0.06494	T	0.89	-31.4022	8.753	0.34629	0.8085:0.1915:0.0:0.0	rs11264300;rs52800761;rs60521342;rs11264300	487;512	E9PHV3;Q5T197	.;DCST1_HUMAN	L	512;512;487;512	ENSP00000295542:M512L;ENSP00000376271:M512L;ENSP00000387369:M487L;ENSP00000357404:M512L	ENSP00000295542:M512L	M	+	1	0	DCST1	153286334	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	3.293000	0.51779	0.960000	0.38005	0.533000	0.62120	ATG	A|0.559;C|0.441	0.441	strong		0.532	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		C	155019710	A	C	155019710	3	2	22	1	0	0	0	0	1	0	0	0	4302	217	8	5	1584	5	DCST1	1	155019710	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12711	155019710	94230911	683	5791										
GBA	2629	hgsc.bcm.edu	37	chr1	155210498	155210498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttaccctactcaaaggcTtgggacattcctgaggacag	10	11	1	1	rs150466109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155210498T>C	ENST00000327247.5	-	3	270	c.38A>G	c.(37-39)aAg>aGg	p.K13R	GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Missense_Mutation_p.K13R|GBA_ENST00000536770.1_Missense_Mutation_p.K13R|GBA_ENST00000368373.3_Missense_Mutation_p.K13R|GBA_ENST00000493842.1_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	13					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Velaglucerase alfa(DB06720)	ACTCAAAGGCTTGGGACATTC	0.557									Gaucher disease type I				t|||	118	0.0235623	0.084	0.0072	5008	,	,		19504	0.002		0.0	False		,,,				2504	0.0				p.K13R		Atlas-SNP	.											.	GBA	46	.	0			c.A38G	GRCh37	CM065215	GBA	M	rs150466109	PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS,,ARG/LYS	312,4094	166.9+/-198.0	11,290,1902	154	142	146		38,38,38,,38	-0.4	0	1	dbSNP_134	146	3,8597	2.2+/-6.3	0,3,4297	no	missense,missense,missense,intron,missense	GBA	NM_000157.3,NM_001005741.2,NM_001005742.2,NM_001171811.1,NM_001171812.1	26,26,26,,26	11,293,6199	CC,CT,TT		0.0349,7.0813,2.422	benign,benign,benign,,benign	13/537,13/537,13/537,,13/488	155210498	315,12691	2203	4300	6503	SO:0001583	missense	2629	exon3	Familial Cancer Database	glucocerebrosidase insufficiency	AAAGGCTTGGGAC	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.38A>G	1.37:g.155210498T>C	ENSP00000314508:p.Lys13Arg	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	60	31	0.516667	NM_001005742	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	44	0.020146520146520148	43	0.08739837398373984	1	0.0027624309392265192	0	0.0	0	0.0	T	5.065	0.197635	0.09652	0.070813	3.49E-4	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	D;D;D;D	0.99474	-5.59;-5.62;-5.62;-5.97	3.32	-0.397	0.12423	.	1.116300	0.07210	U	0.859048	D	0.90789	0.7108	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	D	0.91133	0.4939	10	0.24483	T	0.36	.	2.0673	0.03605	0.2405:0.2836:0.0:0.4759	.	13;13;13	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	R	13	ENSP00000402577:K13R;ENSP00000357357:K13R;ENSP00000314508:K13R;ENSP00000445560:K13R	ENSP00000314508:K13R	K	-	2	0	GBA	153477122	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.370000	0.07523	0.052000	0.16007	0.482000	0.46254	AAG	T|0.979;C|0.021	0.021	strong		0.557	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		C	155210498	T	C	155210498	3	2	22	1	0	0	0	0	1	0	0	0	6266	1609	56	3	1612	3	GBA	1	155210498	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	190788	155210498	94040123	684	5792										
HCN3	57657	hgsc.bcm.edu	37	chr1	155247408	155247408	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagcagcggccggcggcGggggccagcgaaggggcgac	22	12	0	1	rs184885598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155247408G>T	ENST00000368358.3	+	1	35	c.27G>T	c.(25-27)gcG>gcT	p.A9A	CLK2_ENST00000536801.1_5'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	9					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			GGCCGGCGGCGGGGGCCAGCG	0.726													G|||	109	0.0217652	0.0794	0.0058	5008	,	,		10168	0.0		0.0	False		,,,				2504	0.0				p.A9A		Atlas-SNP	.											.	HCN3	74	.	0			c.G27T						PASS	.			200,3496		3,194,1651	3	5	4		27	-1.1	0	1		4	0,7522		0,0,3761	no	coding-synonymous	HCN3	NM_020897.1		3,194,5412	TT,TG,GG		0.0,5.4113,1.7828		9/775	155247408	200,11018	1848	3761	5609	SO:0001819	synonymous_variant	57657	exon1			GGCGGCGGGGGCC	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.27G>T	1.37:g.155247408G>T		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	13	8	0.615385	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																			G|0.983;T|0.017	0.017	strong		0.726	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		T	155247408	G	T	155247408	2	4	22	1	0	0	0	0	0	0	0	1	6998	1103	39	4		4	HCN3	1	155247408	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36910	155247408	94003213	685	5793										
ASH1L	55870	hgsc.bcm.edu	37	chr1	155451343	155451343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attattgatgtttgtactacAagaagccttaagcggttcct	8	7	0	2	rs114218266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155451343A>C	ENST00000368346.3	-	3	1957	c.1318T>G	c.(1318-1320)Tgt>Ggt	p.C440G	ASH1L_ENST00000392403.3_Missense_Mutation_p.C440G|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	440					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTGTACTACAAGAAGCCTTA	0.423													A|||	103	0.0205671	0.0734	0.0058	5008	,	,		19464	0.002		0.0	False		,,,				2504	0.0				p.C440G		Atlas-SNP	.											.	ASH1L	279	.	0			c.T1318G						PASS	.	A	GLY/CYS	299,4107	155.5+/-188.7	12,275,1916	61	60	60		1318	3.6	1	1	dbSNP_132	60	2,8598	1.2+/-3.3	0,2,4298	yes	missense	ASH1L	NM_018489.2	159	12,277,6214	CC,CA,AA		0.0233,6.7862,2.3143	possibly-damaging	440/2965	155451343	301,12705	2203	4300	6503	SO:0001583	missense	55870	exon3			TACTACAAGAAGC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1318T>G	1.37:g.155451343A>C	ENSP00000357330:p.Cys440Gly	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	179	77	0.430168	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	A	15.65	2.897292	0.52121	0.067862	2.33E-4	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91407	-2.84;-2.83	4.73	3.6	0.41247	.	0.327762	0.30538	N	0.009409	T	0.74772	0.3760	N	0.14661	0.345	0.80722	D	1	P;P	0.50528	0.895;0.936	B;P	0.44477	0.264;0.451	T	0.78445	-0.2201	10	0.72032	D	0.01	.	7.8358	0.29369	0.8353:0.0:0.1647:0.0	.	440;440	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	440	ENSP00000357330:C440G;ENSP00000376204:C440G	ENSP00000357330:C440G	C	-	1	0	ASH1L	153717967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.294000	0.59043	0.936000	0.37367	0.460000	0.39030	TGT	A|0.981;C|0.019	0.019	strong		0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155451343	A	C	155451343	3	2	22	1	0	0	0	0	1	0	0	0	1041	130	5	5	7680	5	ASH1L	1	155451343	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	203935	155451343	93799278	686	5794										
YY1AP1	55249	hgsc.bcm.edu	37	chr1	155629982	155629982	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcattgacaggctggatCatgttacagccaccgccaag	11	13	1	1	rs145852062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155629982C>T	ENST00000295566.4	-	11	1880	c.1857G>A	c.(1855-1857)atG>atA	p.M619I	YY1AP1_ENST00000404643.1_Missense_Mutation_p.M553I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M573I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M542I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M562I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M711I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M562I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.M419I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M542I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M573I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M691I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M573I|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	619					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAGGCTGGATCATGTTACAGC	0.537													C|||	100	0.0199681	0.0719	0.0072	5008	,	,		19458	0.0		0.0	False		,,,				2504	0.0				p.M711I		Atlas-SNP	.											.	YY1AP1	104	.	0			c.G2133A						PASS	.	C	,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET	286,4120	156.6+/-189.7	10,266,1927	87	80	83		,1521,1719,1857,1686,1659,2073,2133,1719,1719,1686,1686	2.5	1	1	dbSNP_134	83	2,8592	1.2+/-3.3	0,2,4295	no	utr-3,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	YY1AP1	NM_001198906.1,NM_139121.2,NM_139119.2,NM_139118.2,NM_018253.3,NM_001198905.1,NM_001198904.1,NM_001198903.1,NM_001198902.1,NM_001198901.1,NM_001198900.1,NM_001198899.1	,10,10,10,10,10,10,10,10,10,10,10	10,268,6222	TT,TC,CC		0.0233,6.4911,2.2154	,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	,507/685,573/751,619/797,562/740,553/731,691/869,711/889,573/751,573/751,562/740,562/740	155629982	288,12712	2203	4297	6500	SO:0001583	missense	55249	exon10			CTGGATCATGTTA	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1857G>A	1.37:g.155629982C>T	ENSP00000295566:p.Met619Ile	Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	320	162	0.50625	NM_001198903	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	34	0.015567765567765568	31	0.06300813008130081	3	0.008287292817679558	0	0.0	0	0.0	c	13.31	2.198345	0.38806	0.064911	2.33E-4	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.23552	1.96;1.96;1.97;1.96;1.96;1.92;1.95;1.96;1.97;1.98;1.9;1.97	2.53	2.53	0.30540	.	0.744128	0.12619	N	0.453204	T	0.13457	0.0326	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B	0.21905	0.009;0.013;0.031;0.062;0.053	B;B;B;B;B	0.34652	0.015;0.02;0.187;0.068;0.013	T	0.08207	-1.0733	10	0.16896	T	0.51	.	13.0809	0.59114	0.0:1.0:0.0:0.0	.	711;553;619;573;691	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	562;573;542;573;562;691;619;573;542;553;711;419	ENSP00000352134:M562I;ENSP00000347686:M573I;ENSP00000311138:M542I;ENSP00000316079:M573I;ENSP00000355298:M562I;ENSP00000357324:M691I;ENSP00000295566:M619I;ENSP00000357314:M573I;ENSP00000385791:M542I;ENSP00000385390:M553I;ENSP00000357323:M711I;ENSP00000437926:M419I	ENSP00000295566:M619I	M	-	3	0	YY1AP1	153896606	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	2.589000	0.46145	1.419000	0.47118	0.306000	0.20318	ATG	C|0.981;T|0.019	0.019	strong		0.537	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155629982	C	T	155629982	3	4	22	1	0	0	0	0	1	0	0	0	17505	826	29	2	537	2	YY1AP1	1	155629982	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178639	155629982	93620639	687	5795										
ARHGEF2	9181	hgsc.bcm.edu	37	chr1	155931630	155931630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagctgataaataccctcGtccacattggacagcagctc	7	14	0	1	rs143812169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155931630G>A	ENST00000361247.4	-	11	1389	c.1290C>T	c.(1288-1290)gaC>gaT	p.D430D	ARHGEF2_ENST00000462460.2_Silent_p.D475D|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.D429D|ARHGEF2_ENST00000368316.1_Silent_p.D402D|ARHGEF2_ENST00000313695.7_Silent_p.D402D|ARHGEF2_ENST00000368315.4_Silent_p.D431D	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	430	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAATACCCTCGTCCACATTGG	0.632													G|||	21	0.00419329	0.0136	0.0	5008	,	,		17097	0.0		0.0	False		,,,				2504	0.0031				p.D430D	Melanoma(178;35 2768 6610 28839)	Atlas-SNP	.											.	ARHGEF2	81	.	0			c.C1290T						PASS	.	G	,,	90,4316	73.6+/-111.7	1,88,2114	74	73	73		1290,1287,1206	4	1	1	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	1,89,6413	AA,AG,GG		0.0116,2.0427,0.6997	,,	430/987,429/986,402/959	155931630	91,12915	2203	4300	6503	SO:0001819	synonymous_variant	9181	exon11			ACCCTCGTCCACA	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1290C>T	1.37:g.155931630G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	189	95	0.502645	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																			G|0.995;A|0.005	0.005	strong		0.632	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155931630	G	A	155931630	2	1	22	1	0	0	0	0	0	0	0	1	903	1136	40	1		1	ARHGEF2	1	155931630	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	301648	155931630	93318991	688	5796										
ARHGEF2	9181	hgsc.bcm.edu	37	chr1	155935158	155935158	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagggagtctgtggactgTgagaggatccggcgcagccc	17	9	1	2	rs149517516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155935158T>C	ENST00000361247.4	-	6	615	c.516A>G	c.(514-516)tcA>tcG	p.S172S	ARHGEF2_ENST00000462460.2_Silent_p.S217S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.S172S|ARHGEF2_ENST00000368316.1_Silent_p.S145S|ARHGEF2_ENST00000313695.7_Silent_p.S145S|ARHGEF2_ENST00000368315.4_Silent_p.S173S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	172					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTGGACTGTGAGAGGATCC	0.587													T|||	17	0.00339457	0.0129	0.0	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0				p.S172S	Melanoma(178;35 2768 6610 28839)	Atlas-SNP	.											.	ARHGEF2	81	.	0			c.A516G						PASS	.	T	,,	90,4316	73.6+/-111.7	1,88,2114	72	72	72		516,516,435	-11.3	0.3	1	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	1,88,6414	CC,CT,TT		0.0,2.0427,0.692	,,	172/987,172/986,145/959	155935158	90,12916	2203	4300	6503	SO:0001819	synonymous_variant	9181	exon6			GGACTGTGAGAGG	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.516A>G	1.37:g.155935158T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	170	87	0.511765	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																			T|0.995;C|0.005	0.005	strong		0.587	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		C	155935158	T	C	155935158	2	2	22	1	0	0	0	0	0	0	0	1	903	1683	59	2		2	ARHGEF2	1	155935158	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3528	155935158	93315463	689	5797										
SSR2	6746	hgsc.bcm.edu	37	chr1	155988108	155988108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcattccagacacaatgccAaagtcttctggagggaagga	11	9	2	1	rs34428308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:155988108A>G	ENST00000295702.4	-	3	278	c.207T>C	c.(205-207)ttT>ttC	p.F69F	SSR2_ENST00000496742.1_Intron|SSR2_ENST00000480567.1_Silent_p.F69F|SSR2_ENST00000529008.1_Silent_p.F69F	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	69					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACACAATGCCAAAGTCTTCTG	0.468													A|||	43	0.00858626	0.0318	0.0014	5008	,	,		20208	0.0		0.0	False		,,,				2504	0.0				p.F69F		Atlas-SNP	.											.	SSR2	20	.	0			c.T207C						PASS	.	A		164,4242	108.2+/-146.6	4,156,2043	114	105	108		207	1.1	1	1	dbSNP_126	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SSR2	NM_003145.3		4,157,6342	GG,GA,AA		0.0116,3.7222,1.2686		69/184	155988108	165,12841	2203	4300	6503	SO:0001819	synonymous_variant	6746	exon3			AATGCCAAAGTCT	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.207T>C	1.37:g.155988108A>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	66	37	0.560606	NM_003145	B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	CCDS1126.1																																																																																			A|0.990;G|0.010	0.010	strong		0.468	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		G	155988108	A	G	155988108	2	3	22	1	0	0	0	0	0	0	0	1	15190	127	5	2		2	SSR2	1	155988108	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52950	155988108	93262513	690	5798										
RAB25	57111	hgsc.bcm.edu	37	chr1	156039960	156039960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccctcccagaaatctttgCgaaggtgtccaagcagagac	10	12	1	2	rs115837676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156039960C>T	ENST00000361084.5	+	5	765	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	175					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAAATCTTTGCGAAGGTGTCC	0.597													C|||	29	0.00579073	0.0212	0.0014	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0				p.A175V		Atlas-SNP	.											RAB25,NS,carcinoma,-1,1	RAB25	18	1	0			c.C524T						PASS	.	C	VAL/ALA	100,3904		2,96,1904	65	69	68		524	4.9	0.1	1	dbSNP_132	68	0,8350		0,0,4175	no	missense	RAB25	NM_020387.2	64	2,96,6079	TT,TC,CC		0.0,2.4975,0.8095	benign	175/214	156039960	100,12254	2002	4175	6177	SO:0001583	missense	57111	exon5			TCTTTGCGAAGGT	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.524C>T	1.37:g.156039960C>T	ENSP00000354376:p.Ala175Val	Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	317	157	0.495268	NM_020387	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	CCDS41413.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	13.90	2.375470	0.42105	0.024975	0.0	ENSG00000132698	ENST00000361084	T	0.80033	-1.33	5.85	4.94	0.65067	.	0.395029	0.26800	N	0.022433	T	0.48370	0.1496	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.50533	-0.8817	10	0.87932	D	0	.	12.4852	0.55868	0.1671:0.8329:0.0:0.0	.	175	P57735	RAB25_HUMAN	V	175	ENSP00000354376:A175V	ENSP00000354376:A175V	A	+	2	0	RAB25	154306584	0.001000	0.12720	0.130000	0.21974	0.895000	0.52256	0.961000	0.29267	1.475000	0.48197	-0.152000	0.13540	GCG	C|0.996;T|0.004	0.004	strong		0.597	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			T	156039960	C	T	156039960	3	4	22	1	0	0	0	0	1	0	0	0	12912	768	27	1	542	1	RAB25	1	156039960	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51852	156039960	93210661	691	5799										
LMNA	4000	hgsc.bcm.edu	37	chr1	156105028	156105028	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagcaacctggtgggggcTgcccacgaggagctgcagca	15	12	0	0	rs538089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156105028T>C	ENST00000368300.4	+	5	1073	c.861T>C	c.(859-861)gcT>gcC	p.A287A	LMNA_ENST00000392353.3_Silent_p.A206A|LMNA_ENST00000368297.1_Silent_p.A206A|LMNA_ENST00000448611.2_Silent_p.A175A|LMNA_ENST00000368301.2_Silent_p.A287A|LMNA_ENST00000361308.4_Silent_p.A287A|LMNA_ENST00000368299.3_Silent_p.A287A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.A188A|LMNA_ENST00000347559.2_Silent_p.A287A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	287	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TGGTGGGGGCTGCCCACGAGG	0.632									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				C|||	967	0.193091	0.5242	0.085	5008	,	,		16210	0.0228		0.0865	False		,,,				2504	0.1074				p.A287A		Atlas-SNP	.											.	LMNA	31	.	0			c.T861C						PASS	.	C	,,	1927,2479	623.6+/-394.2	411,1105,687	42	44	43	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	861,861,861	-11	0.4	1	dbSNP_83	43	646,7954	788.8+/-407.6	20,606,3674	no	coding-synonymous,coding-synonymous,coding-synonymous	LMNA	NM_005572.3,NM_170707.2,NM_170708.2	,,	431,1711,4361	CC,CT,TT		7.5116,43.7358,19.7832	,,	287/573,287/665,287/635	156105028	2573,10433	2203	4300	6503	SO:0001819	synonymous_variant	4000	exon5	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	GGGGGCTGCCCAC	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.861T>C	1.37:g.156105028T>C		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	203	201	0.990148	NM_170707	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	CCDS1129.1																																																																																			T|0.808;C|0.192	0.192	strong		0.632	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		C	156105028	T	C	156105028	2	2	22	1	0	0	0	0	0	0	0	1	8848	1567	55	3		3	LMNA	1	156105028	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65068	156105028	93145593	692	5800										
LMNA	4000	hgsc.bcm.edu	37	chr1	156106185	156106185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggccgtggaggaggtggaTgaggagggcaagtttgtccg	21	5	0	1	rs505058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156106185T>C	ENST00000368300.4	+	7	1550	c.1338T>C	c.(1336-1338)gaT>gaC	p.D446D	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Silent_p.D446D|LMNA_ENST00000473598.2_Silent_p.D347D|LMNA_ENST00000361308.4_Silent_p.D446D|LMNA_ENST00000368299.3_Silent_p.D446D|LMNA_ENST00000347559.2_Silent_p.D446D|LMNA_ENST00000392353.3_Silent_p.D365D|LMNA_ENST00000368297.1_Silent_p.D365D|LMNA_ENST00000448611.2_Silent_p.D334D	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	446	LTD.|Tail.		D -> V (in EDMD2). {ECO:0000269|PubMed:14684700}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGAGGTGGATGAGGAGGGCA	0.602									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				C|||	1248	0.249201	0.7247	0.098	5008	,	,		20622	0.0228		0.0865	False		,,,				2504	0.1145				p.D446D		Atlas-SNP	.											.	LMNA	31	.	0			c.T1338C						PASS	.	C	,,	2650,1756	492.7+/-362.5	782,1086,335	47	53	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1338,1338,1338	-5	0.9	1	dbSNP_83	51	653,7939	763.3+/-407.6	21,611,3664	yes	coding-synonymous,coding-synonymous,coding-synonymous	LMNA	NM_005572.3,NM_170707.2,NM_170708.2	,,	803,1697,3999	CC,CT,TT		7.6001,39.8547,25.4116	,,	446/573,446/665,446/635	156106185	3303,9695	2203	4296	6499	SO:0001819	synonymous_variant	4000	exon7	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	GGTGGATGAGGAG	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1338T>C	1.37:g.156106185T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	96	95	0.989583	NM_170707	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	CCDS1129.1	469	0.21474358974358973	347	0.7052845528455285	44	0.12154696132596685	10	0.017482517482517484	68	0.08970976253298153	C	10.16	1.275065	0.23307	0.601453	0.076001	ENSG00000160789	ENST00000292302	.	.	.	5.74	-5.0	0.03001	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4921	0.84205	0.0:0.2176:0.0:0.7824	rs505058;rs17847243;rs58351647;rs505058	.	.	.	.	-1	.	.	.	+	.	.	LMNA	154372809	0.110000	0.22057	0.908000	0.35775	0.984000	0.73092	-0.362000	0.07602	-1.095000	0.03050	-0.733000	0.03571	.	T|0.729;G|0.001	.	strong		0.602	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		C	156106185	T	C	156106185	2	2	22	1	0	0	0	0	0	0	0	1	8848	1461	51	2		2	LMNA	1	156106185	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1157	156106185	93144436	693	5801										
SEMA4A	64218	hgsc.bcm.edu	37	chr1	156146218	156146218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagaagtcctggctgtcccCaactccatcctggagctccc	8	16	0	1	rs12401573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156146218C>T	ENST00000368285.3	+	15	1983	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	SEMA4A_ENST00000368282.1_Silent_p.P572P|SEMA4A_ENST00000355014.2_Silent_p.P572P|SEMA4A_ENST00000368284.1_Silent_p.P440P|SEMA4A_ENST00000368286.2_Silent_p.P440P	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	572					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGTCCCCAACTCCATCC	0.522													c|||	2158	0.430911	0.3949	0.5231	5008	,	,		17757	0.2321		0.6044	False		,,,				2504	0.4407				p.P572P		Atlas-SNP	.											.	SEMA4A	75	.	0			c.C1716T						PASS	.	T	,,,	1860,2546	538.7+/-375.1	401,1058,744	51	51	51		1716,1716,1320,1716	1.9	1	1	dbSNP_120	51	5056,3544	629.7+/-398.3	1488,2080,732	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	,,,	1889,3138,1476	TT,TC,CC		41.2093,42.2152,46.8245	,,,	572/762,572/762,440/630,572/762	156146218	6916,6090	2203	4300	6503	SO:0001819	synonymous_variant	64218	exon15			TGTCCCCAACTCC	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1716C>T	1.37:g.156146218C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	114	58	0.508772	NM_001193300	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1																																																																																			C|0.508;T|0.492	0.492	strong		0.522	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		T	156146218	C	T	156146218	2	4	22	1	0	0	0	0	0	0	0	1	14031	581	21	2		2	SEMA4A	1	156146218	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40033	156146218	93104403	694	5802										
PAQR6	79957	hgsc.bcm.edu	37	chr1	156213921	156213921	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggtcagggatggggcctCactgttgtttggcctgggta	17	8	2	0	rs7513351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156213921C>T	ENST00000292291.5	-	8	1192	c.1034G>A	c.(1033-1035)tGa>tAa	p.*345*	PAQR6_ENST00000356983.2_Missense_Mutation_p.E263K|PAQR6_ENST00000540423.1_Silent_p.*342*|PAQR6_ENST00000368270.1_Silent_p.*321*|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.E263K	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GATGGGGCCTCACTGTTGTTT	0.637													C|||	1098	0.219249	0.1604	0.3026	5008	,	,		19101	0.256		0.1481	False		,,,				2504	0.2751				p.E263K	GBM(16;219 398 12385 32425 38531)	Atlas-SNP	.											.	PAQR6	23	.	0			c.G787A						PASS	.	C	LYS/GLU,	698,3708	293.6+/-282.7	63,572,1568	67	70	69		787,1034	-3.6	0.3	1	dbSNP_116	69	1413,7187	273.1+/-290.5	114,1185,3001	yes	missense,coding-synonymous	PAQR6	NM_024897.2,NM_198406.1	56,	177,1757,4569	TT,TC,CC		16.4302,15.842,16.231	,	263/352,345/345	156213921	2111,10895	2203	4300	6503	SO:0001819	synonymous_variant	79957	exon7			GGGCCTCACTGTT	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.1034G>A	1.37:g.156213921C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_024897	B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	CCDS1136.1	436	0.19963369963369965	76	0.15447154471544716	116	0.32044198895027626	138	0.24125874125874125	106	0.13984168865435356	C	17.16	3.319012	0.60524	0.15842	0.164302	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.38240	1.15;1.15;1.15	5.24	-3.56	0.04626	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.49130	P	2.4299999999999322E-4	B;B;B	0.26602	0.154;0.154;0.006	B;B;B	0.23716	0.048;0.048;0.016	T	0.35943	-0.9768	7	0.87932	D	0	.	2.5753	0.04805	0.1144:0.4297:0.1128:0.3431	rs7513351;rs58089457;rs7513351	195;123;263	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	K	263	ENSP00000353961:E263K;ENSP00000338330:E263K;ENSP00000349474:E263K	ENSP00000338330:E263K	E	-	1	0	PAQR6	154480545	0.958000	0.32768	0.268000	0.24571	0.091000	0.18340	0.235000	0.17948	-0.222000	0.09958	0.462000	0.41574	GAG	C|0.818;T|0.182	0.182	strong		0.637	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		T	156213921	C	T	156213921	2	4	22	1	0	0	0	0	0	0	0	1	11439	838	29	2		2	PAQR6	1	156213921	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67703	156213921	93036700	695	5803										
CCT3	7203	hgsc.bcm.edu	37	chr1	156281999	156281999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctggtcggctgactatccGggccccacaggctctaatgg	12	14	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156281999G>A	ENST00000295688.3	-	11	1268	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	CCT3_ENST00000472765.2_Missense_Mutation_p.R285W|CCT3_ENST00000368261.3_Missense_Mutation_p.R285W|CCT3_ENST00000368259.2_Missense_Mutation_p.R292W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	330					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGACTATCCGGGCCCCACAG	0.468																																					p.R330W		Atlas-SNP	.											.	CCT3	61	.	0			c.C988T						PASS	.						57	61	60					1																	156281999		2203	4300	6503	SO:0001583	missense	7203	exon11			CTATCCGGGCCCC	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.988C>T	1.37:g.156281999G>A	ENSP00000295688:p.Arg330Trp	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	92	48	0.521739	NM_005998	A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856417	0.91355	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.15	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.88512	2.96	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.69307	0.963;0.949;0.949	D	0.91190	0.4983	10	0.72032	D	0.01	-15.521	14.8519	0.70303	0.0:0.0:0.8555:0.1445	.	292;329;330	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	W	330;292;285;285	ENSP00000295688:R330W;ENSP00000357242:R292W;ENSP00000357244:R285W;ENSP00000431543:R285W	ENSP00000295688:R330W	R	-	1	2	CCT3	154548623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.908000	0.87438	1.610000	0.50200	0.643000	0.83706	CGG	.	.	none		0.468	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		A	156281999	G	A	156281999	3	1	22	1	0	0	0	0	1	0	0	0	2954	1115	39	1	665	1	CCT3	1	156281999	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68078	156281999	92968622	696	5804										
RHBG	57127	hgsc.bcm.edu	37	chr1	156347834	156347834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcatctcctttggtgccgTcctgggcaagaccgggccta	12	14	2	1	rs11586833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156347834T>A	ENST00000368249.1	+	3	466	c.428T>A	c.(427-429)gTc>gAc	p.V143D	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.V74D|RHBG_ENST00000368246.2_Missense_Mutation_p.V143D|RHBG_ENST00000255013.3_Missense_Mutation_p.V74D|RHBG_ENST00000400992.2_Missense_Mutation_p.V74D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	143			V -> D (in dbSNP:rs11586833). {ECO:0000269|PubMed:15489334}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.V143D(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTTGGTGCCGTCCTGGGCAAG	0.602													T|||	1334	0.266374	0.1558	0.3588	5008	,	,		13610	0.3472		0.2584	False		,,,				2504	0.2751				p.V143D		Atlas-SNP	.											RHBG,NS,carcinoma,0,1	RHBG	133	1	1	Substitution - Missense(1)	stomach(1)	c.T428A						scavenged	.	T	ASP/VAL	670,3528		45,580,1474	67	71	70		428	4.9	0	1	dbSNP_120	70	1969,6473		233,1503,2485	yes	missense	RHBG	NM_020407.3	152	278,2083,3959	AA,AT,TT		23.3239,15.96,20.8782	probably-damaging	143/459	156347834	2639,10001	2099	4221	6320	SO:0001583	missense	57127	exon3			GTGCCGTCCTGGG	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.428T>A	1.37:g.156347834T>A	ENSP00000357232:p.Val143Asp	Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	190	94	0.494737	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		598	0.27380952380952384	74	0.15040650406504066	144	0.39779005524861877	196	0.34265734265734266	184	0.24274406332453827	T	20.7	4.036607	0.75617	0.1596	0.233239	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.95	4.95	0.65309	Ammonium transporter AmtB-like (3);	0.257936	0.38005	N	0.001853	T	0.57770	0.2076	M	0.93420	3.415	0.18873	P	0.9999841511	D;B;D	0.89917	0.99;0.25;1.0	P;B;D	0.91635	0.845;0.159;0.999	T	0.71771	-0.4492	9	0.72032	D	0.01	-47.6869	13.5971	0.61996	0.0:0.0:0.0:1.0	rs11586833;rs17846689;rs17859789;rs52803169;rs60853732;rs11586833	143;74;180	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	D	143;143;74;74;74	ENSP00000357232:V143D;ENSP00000357229:V143D;ENSP00000383777:V74D;ENSP00000255013:V74D;ENSP00000389836:V74D	ENSP00000255013:V74D	V	+	2	0	RHBG	154614458	0.958000	0.32768	0.016000	0.15963	0.980000	0.70556	7.399000	0.79935	2.084000	0.62774	0.459000	0.35465	GTC	T|0.733;A|0.267	0.267	strong		0.602	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156347834	T	A	156347834	3	1	22	1	0	0	0	0	1	0	0	0	13324	1667	58	5	438	5	RHBG	1	156347834	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65835	156347834	92902787	697	5805										
RHBG	57127	hgsc.bcm.edu	37	chr1	156351699	156351699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcagctggcttcttggctGggactgtctccacgctgggg	16	11	2	0	rs3748569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156351699G>A	ENST00000368249.1	+	6	981	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	RHBG_ENST00000537040.1_Missense_Mutation_p.G153R|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.G315R|RHBG_ENST00000255013.3_Missense_Mutation_p.G246R|RHBG_ENST00000400992.2_Missense_Mutation_p.G283R	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	315			G -> R (in dbSNP:rs3748569). {ECO:0000269|PubMed:15489334}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCTTGGCTGGGACTGTCTC	0.572													G|||	2728	0.544728	0.5719	0.6037	5008	,	,		18935	0.7014		0.4095	False		,,,				2504	0.4438				p.G315R		Atlas-SNP	.											.	RHBG	133	.	0			c.G943A						PASS	.	G	ARG/GLY	2175,1959		576,1023,468	95	106	103		943	4.4	1	1	dbSNP_107	103	3575,4831		782,2011,1410	yes	missense	RHBG	NM_020407.3	125	1358,3034,1878	AA,AG,GG		42.5291,47.3875,45.8533	probably-damaging	315/459	156351699	5750,6790	2067	4203	6270	SO:0001583	missense	57127	exon6			TTGGCTGGGACTG	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.943G>A	1.37:g.156351699G>A	ENSP00000357232:p.Gly315Arg	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	296	137	0.462838	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		1209	0.5535714285714286	287	0.5833333333333334	208	0.574585635359116	403	0.7045454545454546	311	0.4102902374670185	G	26.5	4.744673	0.89663	0.526125	0.425291	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.049574	0.85682	D	0.000000	T	0.67325	0.2881	M	0.93763	3.455	0.09310	P	1.0	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;1.0;0.999	T	0.77643	-0.2511	9	0.72032	D	0.01	-1.7511	14.5902	0.68359	0.0:0.0:1.0:0.0	rs3748569;rs17855953;rs52807244;rs58877861;rs3748569	315;153;283;352	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	R	315;315;153;283;246	ENSP00000357232:G315R;ENSP00000357229:G315R;ENSP00000441197:G153R;ENSP00000383777:G283R;ENSP00000255013:G246R	ENSP00000255013:G246R	G	+	1	0	RHBG	154618323	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.438000	0.80431	2.286000	0.76751	0.561000	0.74099	GGG	G|0.472;A|0.528	0.528	strong		0.572	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156351699	G	A	156351699	3	1	22	1	0	0	0	0	1	0	0	0	13324	1348	47	2	965	2	RHBG	1	156351699	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3865	156351699	92898922	698	5806										
RHBG	57127	hgsc.bcm.edu	37	chr1	156354367	156354367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccccccagactcccagcActacgaggaccaagttcact	6	19	1	1	rs6668857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156354367A>G	ENST00000368249.1	+	9	1322	c.1284A>G	c.(1282-1284)gcA>gcG	p.A428A	RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000255013.3_Silent_p.A359A|RHBG_ENST00000368246.2_Missense_Mutation_p.H427R|RHBG_ENST00000400992.2_Silent_p.A396A	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	428					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GACTCCCAGCACTACGAGGAC	0.617											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3671	0.733027	0.8956	0.6686	5008	,	,		18513	0.8978		0.5149	False		,,,				2504	0.6135				p.H428R		Atlas-SNP	.											.	RHBG	133	.	0			c.A1283G						PASS	.	G	ARG/HIS	3441,611		1456,529,41	62	75	71		1284	5.9	1	1	dbSNP_116	71	4424,3942		1201,2022,960	no	missense	RHBG	NM_020407.3	29	2657,2551,1001	GG,GA,AA		47.1193,15.079,36.6645	benign	428/459	156354367	7865,4553	2026	4183	6209	SO:0001819	synonymous_variant	57127	exon10			CCCAGCACTACGA	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1284A>G	1.37:g.156354367A>G		Somatic	142	0	0	1777	WXS	Illumina HiSeq	Phase_I	140	138	0.985714	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		1580	0.7234432234432234	445	0.9044715447154471	238	0.6574585635359116	503	0.8793706293706294	394	0.5197889182058048	G	17.33	3.362164	0.61403	0.84921	0.528807	ENSG00000132677	ENST00000368246	T	0.18174	2.23	5.94	5.94	0.96194	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.07751	-1.0756	5	0.87932	D	0	-24.589	11.3531	0.49600	0.083:0.0:0.917:0.0	rs6668857;rs17383530;rs17855291;rs59799121;rs6668857	.	.	.	R	427	ENSP00000357229:H427R	ENSP00000357229:H427R	H	+	2	0	RHBG	154620991	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	4.067000	0.57527	1.545000	0.49373	-0.215000	0.12644	CAC	A|0.291;G|0.709	0.709	strong		0.617	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		G	156354367	A	G	156354367	2	3	22	1	0	0	0	0	0	0	0	1	13324	146	6	2		2	RHBG	1	156354367	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2668	156354367	92896254	699	5807										
C1orf61	10485	hgsc.bcm.edu	37	chr1	156377720	156377720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgttctgtacacctggtGgagattccacaatggcttgt	10	11	1	1	rs141938076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156377720G>A	ENST00000368243.1	-	5	335	c.219C>T	c.(217-219)tcC>tcT	p.S73S	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	73						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TACACCTGGTGGAGATTCCAC	0.582													G|||	12	0.00239617	0.0083	0.0014	5008	,	,		19992	0.0		0.0	False		,,,				2504	0.0				p.S73S		Atlas-SNP	.											.	C1orf61	15	.	0			c.C219T						PASS	.	G		24,4382		0,24,2179	114	86	96		219	-0.4	0	1	dbSNP_134	96	0,8594		0,0,4297	no	coding-synonymous	C1orf61	NM_006365.1		0,24,6476	AA,AG,GG		0.0,0.5447,0.1846		73/157	156377720	24,12976	2203	4297	6500	SO:0001819	synonymous_variant	10485	exon5			CCTGGTGGAGATT		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"contingent replication of cDNA-4", "transcriptional activator of the c fos promoter"					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.219C>T	1.37:g.156377720G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	124	53	0.427419	NM_006365	B1ALL5|B1ALL8	Silent	SNP	ENST00000368243.1	37	CCDS1142.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	3.575	-0.086754	0.07097	0.005447	0.0	ENSG00000125462	ENST00000368242	.	.	.	3.36	-0.454	0.12197	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32719	-0.9896	4	.	.	.	.	5.8054	0.18438	0.5029:0.0:0.4971:0.0	.	.	.	.	L	105	.	.	P	-	2	0	C1orf61	154644344	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.003000	0.13083	-0.069000	0.12931	0.542000	0.68232	CCA	G|0.998;A|0.002	0.002	strong		0.582	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		A	156377720	G	A	156377720	2	1	22	1	0	0	0	0	0	0	0	1	2052	1335	47	2		2	C1orf61	1	156377720	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23353	156377720	92872901	700	5808										
MEF2D	4209	hgsc.bcm.edu	37	chr1	156450719	156450719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcgagtcctccccgtcGggctcggggctgtcgcagcc	14	17	0	0	rs1185700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156450719G>A	ENST00000348159.4	-	4	783	c.303C>T	c.(301-303)ccC>ccT	p.P101P	MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000360595.3_Silent_p.P101P|MEF2D_ENST00000368240.2_Silent_p.P101P|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000464356.2_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	101					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCCGTCGGGCTCGGGGC	0.677											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1165	0.232628	0.1808	0.2983	5008	,	,		14474	0.245		0.2386	False		,,,				2504	0.2372				p.P101P		Atlas-SNP	.											.	MEF2D	43	.	0			c.C303T						PASS	.	G		932,3472	332.3+/-302.4	90,752,1360	74	84	81		303	-7.7	0.8	1	dbSNP_87	81	1987,6611	330.6+/-319.3	245,1497,2557	no	coding-synonymous	MEF2D	NM_005920.2		335,2249,3917	AA,AG,GG		23.11,21.1626,22.4504		101/522	156450719	2919,10083	2202	4299	6501	SO:0001819	synonymous_variant	4209	exon4			CCCGTCGGGCTCG	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.303C>T	1.37:g.156450719G>A		Somatic	95	0	0	1778	WXS	Illumina HiSeq	Phase_I	110	54	0.490909	NM_005920	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	CCDS1143.1																																																																																			G|0.766;A|0.234	0.234	strong		0.677	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		A	156450719	G	A	156450719	2	1	22	1	0	0	0	0	0	0	0	1	9458	1103	39	1		1	MEF2D	1	156450719	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72999	156450719	92799902	701	5809										
IQGAP3	128239	hgsc.bcm.edu	37	chr1	156526387	156526387	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacgatgcaacagggtacaCtggaggcagctgggcctcag	15	10	1	1	rs11264498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156526387C>G	ENST00000361170.2	-	12	1238	c.1228G>C	c.(1228-1230)Gtg>Ctg	p.V410L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	410			V -> L (in dbSNP:rs11264498).		activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAGGGTACACTGGAGGCAGC	0.602													C|||	1894	0.378195	0.1407	0.5519	5008	,	,		17223	0.4286		0.6272	False		,,,				2504	0.2679				p.V410L		Atlas-SNP	.											.	IQGAP3	146	.	0			c.G1228C						PASS	.	C	LEU/VAL	1045,3361	383.5+/-324.9	126,793,1284	55	46	49		1228	5.5	1	1	dbSNP_120	49	5490,3110	655.3+/-401.2	1773,1944,583	yes	missense	IQGAP3	NM_178229.4	32	1899,2737,1867	GG,GC,CC		36.1628,23.7177,49.754	probably-damaging	410/1632	156526387	6535,6471	2203	4300	6503	SO:0001583	missense	128239	exon12			GGTACACTGGAGG	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1228G>C	1.37:g.156526387C>G	ENSP00000354451:p.Val410Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	1032	0.4725274725274725	82	0.16666666666666666	207	0.5718232044198895	262	0.458041958041958	481	0.6345646437994723	C	23.0	4.361937	0.82353	0.237177	0.638372	ENSG00000183856	ENST00000361170	T	0.13089	2.62	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.26991	0.0661	L	0.58354	1.805	0.09310	P	0.9999999329442	D	0.64830	0.994	D	0.70716	0.97	T	0.01004	-1.1484	9	0.72032	D	0.01	-21.1507	18.0563	0.89365	0.0:1.0:0.0:0.0	rs11264498;rs17391967;rs52823677;rs57058839;rs11264498	410	Q86VI3	IQGA3_HUMAN	L	410	ENSP00000354451:V410L	ENSP00000354451:V410L	V	-	1	0	IQGAP3	154793011	1.000000	0.71417	0.988000	0.46212	0.445000	0.32107	5.769000	0.68865	2.589000	0.87451	0.491000	0.48974	GTG	C|0.513;G|0.487	0.487	strong		0.602	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		G	156526387	C	G	156526387	3	3	22	1	0	0	0	0	1	0	0	0	7816	565	20	4	3775	4	IQGAP3	1	156526387	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75668	156526387	92724234	702	5810										
IQGAP3	128239	hgsc.bcm.edu	37	chr1	156539169	156539169	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctggactccgctcaccGcttggcctcctccagccggc	9	20	1	0	rs370931618		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156539169G>A	ENST00000361170.2	-	2	134	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	42	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCGCTCACCGCTTGGCCTCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13122	0.0		0.0	False		,,,				2504	0.0				p.R42C		Atlas-SNP	.											.	IQGAP3	146	.	0			c.C124T						PASS	.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	43	36	39		124	5	1	1		39	0,8600		0,0,4300	no	missense-near-splice	IQGAP3	NM_178229.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/1632	156539169	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	128239	exon2			CTCACCGCTTGGC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.125+1C>T	1.37:g.156539169G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053545	0.75960	2.27E-4	0.0	ENSG00000183856	ENST00000361170	D	0.95554	-3.74	4.97	4.97	0.65823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97567	1.0102	10	0.72032	D	0.01	-13.4997	16.978	0.86319	0.0:0.0:1.0:0.0	.	42	Q86VI3	IQGA3_HUMAN	C	42	ENSP00000354451:R42C	ENSP00000354451:R42C	R	-	1	0	IQGAP3	154805793	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.887000	0.48586	2.592000	0.87571	0.467000	0.42956	CGC	.	.	none		0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Missense_Mutation	A	156539169	G	A	156539169	5	1	22	1	0	0	0	0	0	0	1	0	7816	1101	38	1	4919	1	IQGAP3	1	156539169	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12782	156539169	92711452	703	5811										
TTC24	164118	hgsc.bcm.edu	37	chr1	156555577	156555577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccacgtttaccaagcacaCgccctgcagagggacagtcc	9	17	0	1	rs147693801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156555577C>T	ENST00000368237.3	+	8	1529	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.T510M|TTC24_ENST00000478081.1_3'UTR			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	510										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCAAGCACACGCCCTGCAGA	0.517													C|||	55	0.0109824	0.0393	0.0029	5008	,	,		20692	0.0		0.001	False		,,,				2504	0.0				p.T510M		Atlas-SNP	.											TTC24,right_upper_lobe,carcinoma,-1,1	TTC24	46	1	0			c.C1529T						PASS	.	C	MET/THR	122,4138		3,116,2011	117	119	118		1529	-0.6	0	1	dbSNP_134	118	0,8462		0,0,4231	yes	missense	TTC24	NM_001105669.2	81	3,116,6242	TT,TC,CC		0.0,2.8638,0.959	benign	510/583	156555577	122,12600	2130	4231	6361	SO:0001583	missense	164118	exon9			AGCACACGCCCTG		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1529C>T	1.37:g.156555577C>T	ENSP00000357220:p.Thr510Met	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	155	65	0.419355	NM_001105669	Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	13|13	0.005952380952380952|0.005952380952380952	12|12	0.024390243902439025|0.024390243902439025	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	4.199|4.199	0.035700|0.035700	0.08148|0.08148	0.028638|0.028638	0.0|0.0	ENSG00000187862|ENSG00000187862	ENST00000340086|ENST00000368236;ENST00000368237	.|T;T	.|0.26223	.|1.75;1.75	3.22|3.22	-0.612|-0.612	0.11597|0.11597	.|.	.|17.220800	.|0.00397	.|N	.|0.000056	T|T	0.03915|0.03915	0.0110|0.0110	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.29971|0.29971	-0.9994|-0.9994	5|10	.|0.48119	.|T	.|0.1	.|.	3.0131|3.0131	0.06051|0.06051	0.0:0.2819:0.2328:0.4852|0.0:0.2819:0.2328:0.4852	.|.	.|510	.|A2A3L6	.|TTC24_HUMAN	C|M	283|510	.|ENSP00000357219:T510M;ENSP00000357220:T510M	.|ENSP00000357219:T510M	R|T	+|+	1|2	0|0	TTC24|TTC24	154822201|154822201	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	0.040000|0.040000	0.13905|0.13905	-0.118000|-0.118000	0.11851|0.11851	-0.379000|-0.379000	0.06801|0.06801	CGC|ACG	C|0.994;T|0.006	0.006	strong		0.517	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		T	156555577	C	T	156555577	3	4	22	1	0	0	0	0	1	0	0	0	16689	536	19	1	1559	1	TTC24	1	156555577	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16408	156555577	92695044	704	5812										
GPATCH4	54865	hgsc.bcm.edu	37	chr1	156565389	156565389	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcttgatgtcgccttttCttcttcttgctttttctgat	5	11	5	2	rs145851878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156565389C>T	ENST00000438976.2	-	8	774	c.744G>A	c.(742-744)aaG>aaA	p.K248K	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Silent_p.K243K			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	243							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGCCTTTTCTTCTTCTTGC	0.468													C|||	68	0.0135783	0.0499	0.0029	5008	,	,		22178	0.0		0.0	False		,,,				2504	0.0				p.K248K		Atlas-SNP	.											.	GPATCH4	34	.	0			c.G744A						PASS	.	C	,	172,4234	115.4+/-153.4	4,164,2035	332	314	320		744,729	1	0.4	1	dbSNP_134	320	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPATCH4	NM_015590.3,NM_182679.2	,	4,164,6335	TT,TC,CC		0.0,3.9038,1.3225	,	248/376,243/371	156565389	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	54865	exon8			CCTTTTCTTCTTC	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.744G>A	1.37:g.156565389C>T		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	284	130	0.457746	NM_015590	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000438976.2	37	CCDS44245.1																																																																																			C|0.988;T|0.012	0.012	strong		0.468	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		T	156565389	C	T	156565389	2	4	22	1	0	0	0	0	0	0	0	1	6593	912	32	2		2	GPATCH4	1	156565389	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9812	156565389	92685232	705	5813										
GPATCH4	54865	hgsc.bcm.edu	37	chr1	156567847	156567847	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcacaaacttctgatacaGcaagttgggcttgggatgat	10	8	2	2	rs141345590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156567847G>C	ENST00000438976.2	-	5	358	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	GPATCH4_ENST00000334588.7_Missense_Mutation_p.L59V|GPATCH4_ENST00000368232.4_Missense_Mutation_p.L105V|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	105							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTGATACAGCAAGTTGGGC	0.463													G|||	68	0.0135783	0.0499	0.0029	5008	,	,		21358	0.0		0.0	False		,,,				2504	0.0				p.L110V		Atlas-SNP	.											.	GPATCH4	34	.	0			c.C328G						PASS	.	G	VAL/LEU,VAL/LEU	171,4235	115.0+/-153.0	4,163,2036	145	141	142		328,313	2.3	1	1	dbSNP_134	142	0,8600		0,0,4300	yes	missense,missense	GPATCH4	NM_015590.3,NM_182679.2	32,32	4,163,6336	CC,CG,GG		0.0,3.8811,1.3148	probably-damaging,probably-damaging	110/376,105/371	156567847	171,12835	2203	4300	6503	SO:0001583	missense	54865	exon5			GATACAGCAAGTT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.328C>G	1.37:g.156567847G>C	ENSP00000396441:p.Leu110Val	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	182	91	0.5	NM_015590	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	CCDS44245.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	G	16.61	3.172437	0.57584	0.038811	0.0	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000334588	.	.	.	5.47	2.33	0.28932	.	0.073719	0.53938	D	0.000052	T	0.36496	0.0969	L	0.57130	1.785	0.41650	D	0.989123	D;D	0.58268	0.982;0.982	P;P	0.51266	0.664;0.664	T	0.31696	-0.9934	9	0.42905	T	0.14	-1.1016	3.0104	0.06043	0.2718:0.0:0.5275:0.2007	.	110;105	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	V	105;105;110;59	.	ENSP00000334793:L59V	L	-	1	2	GPATCH4	154834471	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.145000	0.31577	0.837000	0.34925	0.655000	0.94253	CTG	G|0.988;C|0.012	0.012	strong		0.463	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		C	156567847	G	C	156567847	3	2	22	1	0	0	0	0	1	0	0	0	6593	962	34	4	815	4	GPATCH4	1	156567847	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2458	156567847	92682774	706	5814										
HAPLN2	60484	hgsc.bcm.edu	37	chr1	156593928	156593928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcatcgaggacgagagcGtggcgctgaccttgagcttg	16	10	0	3	rs149573918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156593928G>T	ENST00000255039.1	+	4	822	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	139	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACGAGAGCGTGGCGCTGAC	0.692													G|||	68	0.0135783	0.0499	0.0029	5008	,	,		14129	0.0		0.0	False		,,,				2504	0.0				p.V139L		Atlas-SNP	.											.	HAPLN2	20	.	0			c.G415T						PASS	.	G	LEU/VAL	162,4192		4,154,2019	42	36	38		415	1.9	1	1	dbSNP_134	38	2,8482		0,2,4240	yes	missense	HAPLN2	NM_021817.2	32	4,156,6259	TT,TG,GG		0.0236,3.7207,1.2775	benign	139/341	156593928	164,12674	2177	4242	6419	SO:0001583	missense	60484	exon4			GAGAGCGTGGCGC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.415G>T	1.37:g.156593928G>T	ENSP00000255039:p.Val139Leu	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	213	99	0.464789	NM_021817	Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	CCDS1148.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	G	13.59	2.283640	0.40394	0.037207	2.36E-4	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.26957	1.7;1.7	4.04	1.89	0.25635	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.225805	0.35838	N	0.002959	T	0.05090	0.0136	N	0.17379	0.485	0.32704	N	0.512539	B	0.10296	0.003	B	0.18871	0.023	T	0.29731	-1.0002	10	0.27082	T	0.32	-15.0291	7.6488	0.28336	0.0:0.1512:0.5635:0.2853	.	139	Q9GZV7	HPLN2_HUMAN	L	139;112;139	ENSP00000255039:V139L;ENSP00000388835:V139L	ENSP00000255039:V139L	V	+	1	0	HAPLN2	154860552	0.867000	0.29959	1.000000	0.80357	0.971000	0.66376	0.920000	0.28705	0.995000	0.38917	0.655000	0.94253	GTG	G|0.986;T|0.014	0.014	strong		0.692	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		T	156593928	G	T	156593928	3	4	22	1	0	0	0	0	1	0	0	0	6955	1145	40	4	421	4	HAPLN2	1	156593928	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26081	156593928	92656693	707	5815										
BCAN	63827	hgsc.bcm.edu	37	chr1	156621251	156621251	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcctcctgccacagactCggcccagccttctgccatcc					rs12065791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156621251C>T	ENST00000329117.5	+	7	1403	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	BCAN_ENST00000361588.5_Missense_Mutation_p.S356L|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	356			S -> L (in dbSNP:rs12065791).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCACAGACTCGGCCCAGCCT	0.557													C|||	237	0.0473243	0.1687	0.0173	5008	,	,		18259	0.0		0.002	False		,,,				2504	0.0				p.S356L		Atlas-SNP	.											.	BCAN	174	.	0			c.C1067T						PASS	.	C	LEU/SER,LEU/SER	656,3750	268.0+/-268.2	43,570,1590	47	44	45		1067,1067	5.2	1	1	dbSNP_120	45	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	BCAN	NM_021948.4,NM_198427.1	145,145	43,574,5886	TT,TC,CC		0.0465,14.8888,5.0746	benign,benign	356/912,356/672	156621251	660,12346	2203	4300	6503	SO:0001583	missense	63827	exon7			CAGACTCGGCCCA	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1067C>T	1.37:g.156621251C>T	ENSP00000331210:p.Ser356Leu	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	88	0.040293040293040296	79	0.16056910569105692	7	0.019337016574585635	0	0.0	2	0.002638522427440633	C	9.099	1.003544	0.19121	0.148888	4.65E-4	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.11495	2.77;2.77	5.17	5.17	0.71159	C-type lectin fold (1);C-type lectin-like (1);	0.474289	0.19636	N	0.109545	T	0.02533	0.0077	L	0.27053	0.805	0.32632	N	0.521804	P;B	0.42518	0.782;0.145	B;B	0.29077	0.098;0.041	T	0.45190	-0.9278	10	0.33141	T	0.24	-10.544	11.8228	0.52250	0.0:0.8238:0.1762:0.0	rs12065791;rs12065791	356;356	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	356	ENSP00000331210:S356L;ENSP00000354925:S356L	ENSP00000331210:S356L	S	+	2	0	BCAN	154887875	0.998000	0.40836	0.995000	0.50966	0.125000	0.20455	3.340000	0.52143	2.692000	0.91855	0.655000	0.94253	TCG	C|0.949;T|0.051	0.051	strong		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		T	156621251	C	T	156621251	3	4	22	1	0	0	0	0	1	0	0	0	1345	893	31	1	1089	1	BCAN	1	156621251	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27323	156621251	92629370	708	5816	117	2								
BCAN	63827	hgsc.bcm.edu	37	chr1	156621252	156621252	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcctcctgccacagactcGgcccagccttctgccatccc					rs146863260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156621252G>A	ENST00000329117.5	+	7	1404	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	BCAN_ENST00000361588.5_Silent_p.S356S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	356			S -> L (in dbSNP:rs12065791).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACAGACTCGGCCCAGCCTT	0.562													G|||	19	0.00379393	0.0144	0.0	5008	,	,		18343	0.0		0.0	False		,,,				2504	0.0				p.S356S		Atlas-SNP	.											.	BCAN	174	.	0			c.G1068A						PASS	.	G	,	62,4344	58.7+/-95.3	0,62,2141	47	44	45		1068,1068	1.5	0.9	1	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCAN	NM_021948.4,NM_198427.1	,	0,62,6441	AA,AG,GG		0.0,1.4072,0.4767	,	356/912,356/672	156621252	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	63827	exon7			AGACTCGGCCCAG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1068G>A	1.37:g.156621252G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	51	24	0.470588	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																			G|0.994;A|0.006	0.006	strong		0.562	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156621252	G	A	156621252	2	1	22	1	0	0	0	0	0	0	0	1	1345	1103	39	1		1	BCAN	1	156621252	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	156621252	92629369	709	5817	117	2								
NES	10763	hgsc.bcm.edu	37	chr1	156641537	156641537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagattttactgcctctaCgctctcttctttgagtgact	6	10	3	3	rs951781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156641537C>T	ENST00000368223.3	-	4	2575	c.2443G>A	c.(2443-2445)Gta>Ata	p.V815I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	815	Tail.		V -> I (in dbSNP:rs951781). {ECO:0000269|PubMed:12880961}.		brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.V815I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTGCCTCTACGCTCTCTTCT	0.418													C|||	1023	0.204273	0.0363	0.2738	5008	,	,		19193	0.12		0.3439	False		,,,				2504	0.3252				p.V815I		Atlas-SNP	.											NES,NS,carcinoma,0,1	NES	196	1	1	Substitution - Missense(1)	stomach(1)	c.G2443A						scavenged	.	C	ILE/VAL	401,4005	199.1+/-222.7	19,363,1821	105	96	99		2443	-4.9	0	1	dbSNP_92	99	3050,5550	468.2+/-367.2	579,1892,1829	yes	missense	NES	NM_006617.1	29	598,2255,3650	TT,TC,CC		35.4651,9.1012,26.5339	benign	815/1622	156641537	3451,9555	2203	4300	6503	SO:0001583	missense	10763	exon4			CCTCTACGCTCTC	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2443G>A	1.37:g.156641537C>T	ENSP00000357206:p.Val815Ile	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	189	94	0.497355	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	460	0.21062271062271062	18	0.036585365853658534	105	0.2900552486187845	73	0.12762237762237763	264	0.3482849604221636	C	11.39	1.624057	0.28889	0.091012	0.354651	ENSG00000132688	ENST00000368223	D	0.85258	-1.96	5.4	-4.93	0.03066	.	1.551100	0.04567	N	0.392662	T	0.58991	0.2161	L	0.38838	1.175	0.80722	P	0.0	B	0.18166	0.026	B	0.04013	0.001	T	0.52238	-0.8602	9	0.38643	T	0.18	.	7.4335	0.27141	0.0:0.2352:0.1919:0.5728	rs951781;rs17393839;rs57478265;rs951781	815	P48681	NEST_HUMAN	I	815	ENSP00000357206:V815I	ENSP00000357206:V815I	V	-	1	0	NES	154908161	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.666000	0.01963	-0.441000	0.07201	-0.251000	0.11542	GTA	C|0.783;T|0.217	0.217	strong		0.418	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156641537	C	T	156641537	3	4	22	1	0	0	0	0	1	0	0	0	10337	536	19	1	2426	1	NES	1	156641537	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20285	156641537	92609084	710	5818										
INSRR	3645	hgsc.bcm.edu	37	chr1	156814884	156814884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctactgtggggcatggtgcgCgcaaagacgaaggtggcggc	18	9	0	1	rs149474857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156814884C>T	ENST00000368195.3	-	12	2817	c.2421G>A	c.(2419-2421)gcG>gcA	p.A807A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	807					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATGGTGCGCGCAAAGACGA	0.617													C|||	36	0.0071885	0.0272	0.0	5008	,	,		16306	0.0		0.0	False		,,,				2504	0.0				p.A807A		Atlas-SNP	.											.	INSRR	309	.	0			c.G2421A						PASS	.	C	,	104,4302	78.3+/-116.7	0,104,2099	23	22	22		,2421	-4.1	0.9	1	dbSNP_134	22	1,8599		0,1,4299	no	intron,coding-synonymous	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,	0,105,6398	TT,TC,CC		0.0116,2.3604,0.8073	,	,807/1298	156814884	105,12901	2203	4300	6503	SO:0001819	synonymous_variant	3645	exon12			GGTGCGCGCAAAG	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2421G>A	1.37:g.156814884C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	115	56	0.486957	NM_014215	O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																			C|0.991;T|0.009	0.009	strong		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156814884	C	T	156814884	2	4	22	1	0	0	0	0	0	0	0	1	7774	755	27	1		1	INSRR	1	156814884	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	173347	156814884	92435737	711	5819										
NTRK1	4914	hgsc.bcm.edu	37	chr1	156838432	156838432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctggagcagtcagccaCggtgatggtgagaagacctt	15	8	1	4	rs55909005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156838432C>T	ENST00000524377.1	+	6	751	c.710C>T	c.(709-711)aCg>aTg	p.T237M	NTRK1_ENST00000358660.3_Missense_Mutation_p.T237M|NTRK1_ENST00000368196.3_Missense_Mutation_p.T237M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T207M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	237	Ig-like C2-type 1.		T -> M (in dbSNP:rs55909005). {ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CAGTCAGCCACGGTGATGGTG	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			C|||	87	0.0173722	0.0598	0.0115	5008	,	,		15696	0.0		0.0	False		,,,				2504	0.0				p.T237M		Atlas-SNP	.		Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	.	NTRK1	287	.	0			c.C710T						PASS	.	C	MET/THR,MET/THR,MET/THR	196,3896		4,188,1854	14	14	14		620,710,710	2.5	0.5	1	dbSNP_129	14	5,8021		0,5,4008	yes	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	81,81,81	4,193,5862	TT,TC,CC		0.0623,4.7898,1.6587	probably-damaging,probably-damaging,probably-damaging	207/761,237/791,237/797	156838432	201,11917	2046	4013	6059	SO:0001583	missense	4914	exon6			CAGCCACGGTGAT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.710C>T	1.37:g.156838432C>T	ENSP00000431418:p.Thr237Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	103	53	0.514563	NM_001012331	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	27	0.012362637362637362	22	0.044715447154471545	5	0.013812154696132596	0	0.0	0	0.0	C	13.13	2.144047	0.37825	0.047898	6.23E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.38	2.47	0.30058	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.432209	0.19724	N	0.107503	T	0.16514	0.0397	L	0.52573	1.65	0.32458	N	0.544507	P;D;D;D	0.89917	0.791;1.0;1.0;0.998	B;P;D;P	0.85130	0.248;0.806;0.997;0.886	T	0.03354	-1.1045	10	0.35671	T	0.21	.	6.7504	0.23483	0.0:0.782:0.0:0.218	rs55909005	237;237;237;207	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	207;237;237;237	ENSP00000376120:T207M;ENSP00000357179:T237M;ENSP00000431418:T237M;ENSP00000351486:T237M	ENSP00000351486:T237M	T	+	2	0	NTRK1	155105056	0.172000	0.23043	0.531000	0.27976	0.749000	0.42624	0.489000	0.22387	0.577000	0.29470	0.462000	0.41574	ACG	C|0.987;T|0.013	0.013	strong		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156838432	C	T	156838432	3	4	22	1	0	0	0	0	1	0	0	0	10706	536	19	1	862	1	NTRK1	1	156838432	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23548	156838432	92412189	712	5820										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156878531	156878531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgcccgcaggacacgcaTgggccagggtgccaggagca	16	13	0	0	rs11264580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156878531T>C	ENST00000338302.3	+	11	1425	c.1200T>C	c.(1198-1200)caT>caC	p.H400H	PEAR1_ENST00000292357.7_Silent_p.H400H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	400	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACACGCATGGGCCAGGGT	0.716													C|||	1118	0.223243	0.2617	0.1585	5008	,	,		14582	0.3135		0.1243	False		,,,				2504	0.226				p.H400H		Atlas-SNP	.											PEAR1,colon,carcinoma,0,1	PEAR1	118	1	0			c.T1200C						PASS	.	C		1033,3307		130,773,1267	16	15	15		1200	1.9	1	1	dbSNP_120	15	1014,7508		64,886,3311	no	coding-synonymous	PEAR1	NM_001080471.1		194,1659,4578	CC,CT,TT		11.8986,23.8018,15.9151		400/1038	156878531	2047,10815	2170	4261	6431	SO:0001819	synonymous_variant	375033	exon10			CACGCATGGGCCA	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1200T>C	1.37:g.156878531T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			T|0.780;C|0.220	0.220	strong		0.716	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156878531	T	C	156878531	2	2	22	1	0	0	0	0	0	0	0	1	11712	1461	51	2		2	PEAR1	1	156878531	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40099	156878531	92372090	713	5821										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156878737	156878737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctagtctttgtcctccTgacacctacggtgtcaactg	9	12	2	1	rs6671392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156878737T>C	ENST00000338302.3	+	12	1545	c.1320T>C	c.(1318-1320)ccT>ccC	p.P440P	PEAR1_ENST00000292357.7_Silent_p.P440P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	440					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGTCCTCCTGACACCTACG	0.592													C|||	1119	0.223442	0.2617	0.1585	5008	,	,		18742	0.3145		0.1243	False		,,,				2504	0.226				p.P440P		Atlas-SNP	.											.	PEAR1	118	.	0			c.T1320C						PASS	.	C		1112,3294	718.6+/-408.9	150,812,1241	109	86	94		1320	-9.7	0.1	1	dbSNP_116	94	1087,7513	769.1+/-407.6	75,937,3288	no	coding-synonymous	PEAR1	NM_001080471.1		225,1749,4529	CC,CT,TT		12.6395,25.2383,16.9076		440/1038	156878737	2199,10807	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon11			TCCTCCTGACACC	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1320T>C	1.37:g.156878737T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			T|0.809;C|0.191	0.191	strong		0.592	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156878737	T	C	156878737	2	2	22	1	0	0	0	0	0	0	0	1	11712	1567	55	3		3	PEAR1	1	156878737	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	206	156878737	92371884	714	5822										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156882996	156882996	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcatgcagatgtccctccGagctacagtcactactactc	7	14	2	1	rs822441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156882996G>C	ENST00000338302.3	+	20	2658	c.2433G>C	c.(2431-2433)ccG>ccC	p.P811P	PEAR1_ENST00000292357.7_Silent_p.P811P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	811	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGTCCCTCCGAGCTACAGTC	0.597													G|||	1599	0.319289	0.5477	0.147	5008	,	,		18610	0.3323		0.159	False		,,,				2504	0.2843				p.P811P		Atlas-SNP	.											PEAR1,NS,carcinoma,+2,1	PEAR1	118	1	0			c.G2433C						PASS	.	G		2121,2285	577.1+/-384.4	487,1147,569	124	117	120		2433	-10.6	0	1	dbSNP_86	120	1372,7228	267.2+/-287.2	116,1140,3044	no	coding-synonymous	PEAR1	NM_001080471.1		603,2287,3613	CC,CG,GG		15.9535,48.1389,26.8568		811/1038	156882996	3493,9513	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon19			CCCTCCGAGCTAC	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2433G>C	1.37:g.156882996G>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	138	135	0.978261	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			G|0.714;C|0.285	0.285	strong		0.597	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156882996	G	C	156882996	2	2	22	1	0	0	0	0	0	0	0	1	11712	1045	37	4		4	PEAR1	1	156882996	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4259	156882996	92367625	715	5823										
C1orf92	149499	hgsc.bcm.edu	37	chr1	156902281	156902281	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagtatcagatgcagttcTccaaggccaagagtgcatcc	10	11	2	2	rs822431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156902281T>G	ENST00000337428.7	+	14	1661	c.1507T>G	c.(1507-1509)Tcc>Gcc	p.S503A	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	503			S -> A (in dbSNP:rs822431).					p.S503A(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GATGCAGTTCTCCAAGGCCAA	0.597													T|||	1417	0.282947	0.447	0.2997	5008	,	,		17869	0.2917		0.175	False		,,,				2504	0.1513				p.S503A		Atlas-SNP	.											LRRC71,NS,carcinoma,0,1	LRRC71	33	1	1	Substitution - Missense(1)	stomach(1)	c.T1507G						PASS	.	T	ALA/SER	1753,2541		395,963,789	65	75	72		1507	0.6	1	1	dbSNP_86	72	1468,7064		128,1212,2926	yes	missense	LRRC71	NM_144702.2	99	523,2175,3715	GG,GT,TT		17.2058,40.8244,25.1131	benign	503/560	156902281	3221,9605	2147	4266	6413	SO:0001583	missense	149499	exon14			CAGTTCTCCAAGG	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1507T>G	1.37:g.156902281T>G	ENSP00000336661:p.Ser503Ala	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	185	79	0.427027	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	631	0.2889194139194139	204	0.4146341463414634	113	0.31215469613259667	188	0.32867132867132864	126	0.1662269129287599	T	9.430	1.085354	0.20390	0.408244	0.172058	ENSG00000160838	ENST00000337428	T	0.20598	2.06	4.59	0.602	0.17535	.	0.698180	0.12516	N	0.462092	T	0.03305	0.0096	L	0.29908	0.895	0.42428	P	0.007337999999999956	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.41645	-0.9497	9	0.23891	T	0.37	-17.0122	0.4647	0.00522	0.1848:0.2001:0.1681:0.4469	rs822431;rs60893033;rs822431	503;289	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	A	503	ENSP00000336661:S503A	ENSP00000336661:S503A	S	+	1	0	LRRC71	155168905	0.114000	0.22134	0.998000	0.56505	0.956000	0.61745	-0.154000	0.10130	0.265000	0.21872	0.460000	0.39030	TCC	T|0.706;G|0.294	0.294	strong		0.597	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		G	156902281	T	G	156902281	3	3	22	1	0	0	0	0	1	0	0	0	2069	1551	54	5	1561	5	C1orf92	1	156902281	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19285	156902281	92348340	716	5824										
C1orf92	149499	hgsc.bcm.edu	37	chr1	156902678	156902678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccacaatgtcctgcgtacGccataatccaggagctgatg	9	14	0	1	rs11264585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:156902678G>A	ENST00000337428.7	+	15	1751	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	533			A -> T (in dbSNP:rs11264585).							endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TCCTGCGTACGCCATAATCCA	0.498													G|||	121	0.0241613	0.0862	0.0101	5008	,	,		18240	0.0		0.0	False		,,,				2504	0.0				p.A533T		Atlas-SNP	.											.	LRRC71	33	.	0			c.G1597A						PASS	.	G	THR/ALA	265,3689		9,247,1721	48	46	47		1597	-11	0	1	dbSNP_120	47	3,8317		0,3,4157	yes	missense	LRRC71	NM_144702.2	58	9,250,5878	AA,AG,GG		0.0361,6.7021,2.1835	benign	533/560	156902678	268,12006	1977	4160	6137	SO:0001583	missense	149499	exon15			GCGTACGCCATAA	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1597G>A	1.37:g.156902678G>A	ENSP00000336661:p.Ala533Thr	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	115	57	0.495652	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	34	0.015567765567765568	28	0.056910569105691054	6	0.016574585635359115	0	0.0	0	0.0	G	1.828	-0.470466	0.04445	0.067021	3.61E-4	ENSG00000160838	ENST00000337428	T	0.18810	2.19	5.48	-11.0	0.00169	.	1.768440	0.02711	N	0.112830	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.12766	T	0.61	-0.0908	4.8021	0.13301	0.2877:0.1877:0.4323:0.0923	rs11264585;rs52828876;rs11264585	533	Q8N4P6	LRC71_HUMAN	T	533	ENSP00000336661:A533T	ENSP00000336661:A533T	A	+	1	0	LRRC71	155169302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.651000	0.05372	-2.183000	0.00763	-1.149000	0.01842	GCC	G|0.981;A|0.019	0.019	strong		0.498	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		A	156902678	G	A	156902678	3	1	22	1	0	0	0	0	1	0	0	0	2069	1087	38	1	1655	1	C1orf92	1	156902678	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	397	156902678	92347943	717	5825										
FCRL5	83416	hgsc.bcm.edu	37	chr1	157497597	157497597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggattgggggagagcctctCggggcctcacagtgaagctc	16	10	2	2	rs73011545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157497597C>T	ENST00000361835.3	-	9	1927	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	FCRL5_ENST00000368191.3_Silent_p.P505P|FCRL5_ENST00000368190.3_Silent_p.P590P|FCRL5_ENST00000356953.4_Silent_p.P590P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGAGCCTCTCGGGGCCTCAC	0.597													N|||	210	0.0419329	0.0514	0.013	5008	,	,		17067	0.1141		0.0099	False		,,,				2504	0.0082				p.P590P		Atlas-SNP	.											FCRL5,NS,carcinoma,-1,1	FCRL5	177	1	0			c.G1770A						PASS	.	T	,	183,4223	115.9+/-153.8	3,177,2023	50	54	53		1770,1770	-4	0	1	dbSNP_130	53	65,8535	39.8+/-96.3	1,63,4236	no	coding-synonymous,coding-synonymous	FCRL5	NM_001195388.1,NM_031281.2	,	4,240,6259	TT,TC,CC		0.7558,4.1534,1.9068	,	590/999,590/978	157497597	248,12758	2203	4300	6503	SO:0001819	synonymous_variant	83416	exon9			GCCTCTCGGGGCC	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.1770G>A	1.37:g.157497597C>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	178	66	0.370787	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																			C|0.972;T|0.028	0.028	strong		0.597	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157497597	C	T	157497597	2	4	22	1	0	0	0	0	0	0	0	1	5798	871	31	1		1	FCRL5	1	157497597	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	594919	157497597	91753024	718	5826										
FCRL5	83416	hgsc.bcm.edu	37	chr1	157514091	157514091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcgggctgtcagatatgaCgctgtaaggcattgttgctg	13	8	2	2	rs12036228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157514091C>T	ENST00000361835.3	-	5	962	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	FCRL5_ENST00000368191.3_Missense_Mutation_p.V184I|FCRL5_ENST00000368190.3_Missense_Mutation_p.V269I|FCRL5_ENST00000356953.4_Missense_Mutation_p.V269I|FCRL5_ENST00000368189.3_Missense_Mutation_p.V269I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	269	Ig-like C2-type 2.		V -> I (in dbSNP:rs12036228). {ECO:0000269|PubMed:11493702, ECO:0000269|PubMed:15489334}.		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)				TCAGATATGACGCTGTAAGGC	0.512													T|||	990	0.197684	0.295	0.1729	5008	,	,		20744	0.0784		0.2376	False		,,,				2504	0.1656				p.V269I		Atlas-SNP	.											.	FCRL5	177	.	0			c.G805A						PASS	.	T	ILE/VAL,ILE/VAL	1295,3111	699.1+/-406.4	182,931,1090	154	152	153		805,805	-1.6	0	1	dbSNP_120	153	1842,6758	731.3+/-406.8	195,1452,2653	yes	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	29,29	377,2383,3743	TT,TC,CC		21.4186,29.3917,24.1196	benign,benign	269/999,269/978	157514091	3137,9869	2203	4300	6503	SO:0001583	missense	83416	exon5			ATATGACGCTGTA	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.805G>A	1.37:g.157514091C>T	ENSP00000354691:p.Val269Ile	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	156	75	0.480769	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	457	0.20924908424908426	151	0.30691056910569103	74	0.20441988950276244	46	0.08041958041958042	186	0.24538258575197888	T	7.167	0.586880	0.13749	0.293917	0.214186	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.0	-1.58	0.08479	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02230	0.0069	N	0.20685	0.6	0.80722	P	0.0	B;B;B;B;B;B	0.28605	0.032;0.1;0.026;0.217;0.114;0.045	B;B;B;B;B;B	0.29524	0.053;0.057;0.049;0.084;0.037;0.103	T	0.47341	-0.9125	8	0.13853	T	0.58	.	10.5466	0.45064	0.0:0.5765:0.0:0.4235	rs12036228;rs12036228	300;184;269;269;269;269	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	269;269;269;184;269	ENSP00000354691:V269I;ENSP00000349434:V269I;ENSP00000357173:V269I;ENSP00000357174:V184I;ENSP00000357172:V269I	ENSP00000349434:V269I	V	-	1	0	FCRL5	155780715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.680000	0.00837	-0.792000	0.04480	-1.361000	0.01213	GTC	C|0.772;T|0.228	0.228	strong		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157514091	C	T	157514091	3	4	22	1	0	0	0	0	1	0	0	0	5798	536	19	1	2180	1	FCRL5	1	157514091	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16494	157514091	91736530	719	5827										
FCRL5	83416	hgsc.bcm.edu	37	chr1	157514685	157514685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttccttatatccagtacaGcgatatgcaccattgtcctt	5	12	0	0	rs11803066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157514685G>A	ENST00000361835.3	-	4	652	c.495C>T	c.(493-495)cgC>cgT	p.R165R	FCRL5_ENST00000368191.3_Silent_p.R80R|FCRL5_ENST00000368189.3_Silent_p.R165R|FCRL5_ENST00000368190.3_Silent_p.R165R|FCRL5_ENST00000356953.4_Silent_p.R165R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	165					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)				ATCCAGTACAGCGATATGCAC	0.368													G|||	72	0.014377	0.053	0.0029	5008	,	,		21706	0.0		0.0	False		,,,				2504	0.0				p.R165R		Atlas-SNP	.											.	FCRL5	177	.	0			c.C495T						PASS	.	G	,	233,4173	138.8+/-174.5	5,223,1975	153	142	146		495,495	-3.5	0	1	dbSNP_120	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FCRL5	NM_001195388.1,NM_031281.2	,	5,223,6275	AA,AG,GG		0.0,5.2882,1.7915	,	165/999,165/978	157514685	233,12773	2203	4300	6503	SO:0001819	synonymous_variant	83416	exon4			AGTACAGCGATAT	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.495C>T	1.37:g.157514685G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	190	103	0.542105	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																			G|0.982;A|0.018	0.018	strong		0.368	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157514685	G	A	157514685	2	1	22	1	0	0	0	0	0	0	0	1	5798	958	34	2		2	FCRL5	1	157514685	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	594	157514685	91735936	720	5828										
FCRL2	79368	hgsc.bcm.edu	37	chr1	157736673	157736673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggaacaaggcatacaaCagcaaagcaacaccagtgaa	9	9	0	1	rs34445670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157736673C>T	ENST00000361516.3	-	7	1299	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L	FCRL2_ENST00000368181.4_Silent_p.L133L|FCRL2_ENST00000392274.3_Silent_p.L417L|FCRL2_ENST00000469986.1_Silent_p.L164L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	417					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGCATACAACAGCAAAGCAA	0.418													C|||	92	0.0183706	0.0643	0.0086	5008	,	,		19517	0.0		0.001	False		,,,				2504	0.0				p.L417L		Atlas-SNP	.											.	FCRL2	104	.	0			c.G1251A						PASS	.	C		271,4135	152.5+/-186.2	9,253,1941	135	126	129		1251	-0.2	0	1	dbSNP_126	129	0,8600		0,0,4300	no	coding-synonymous	FCRL2	NM_030764.3		9,253,6241	TT,TC,CC		0.0,6.1507,2.0837		417/509	157736673	271,12735	2203	4300	6503	SO:0001819	synonymous_variant	79368	exon7			ATACAACAGCAAA	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1251G>A	1.37:g.157736673C>T		Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	336	150	0.446429	NM_030764	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	CCDS1168.1																																																																																			C|0.983;T|0.017	0.017	strong		0.418	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		T	157736673	C	T	157736673	2	4	22	1	0	0	0	0	0	0	0	1	5795	465	17	2		2	FCRL2	1	157736673	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	221988	157736673	91513948	721	5829										
FCRL1	115350	hgsc.bcm.edu	37	chr1	157771979	157771979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaggattgggcgagacacCgggactgagggagacagtag	18	6	0	4	rs12035302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157771979C>T	ENST00000368176.3	-	5	679	c.612G>A	c.(610-612)ccG>ccA	p.P204P	FCRL1_ENST00000491942.1_Silent_p.P204P|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.P204P	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCGAGACACCGGGACTGAGG	0.582													C|||	122	0.024361	0.0832	0.0058	5008	,	,		19850	0.006		0.001	False		,,,				2504	0.001				p.P204P	GBM(54;482 1003 11223 30131 35730)	Atlas-SNP	.											.	FCRL1	164	.	0			c.G612A						PASS	.	C	,,	291,4115	141.5+/-176.9	15,261,1927	34	36	35		612,612,612	1.2	1	1	dbSNP_120	35	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	FCRL1	NM_001159397.1,NM_001159398.1,NM_052938.4	,,	15,266,6222	TT,TC,CC		0.0581,6.6046,2.2759	,,	204/367,204/429,204/430	157771979	296,12710	2203	4300	6503	SO:0001819	synonymous_variant	115350	exon5			AGACACCGGGACT	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.612G>A	1.37:g.157771979C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	136	65	0.477941	NM_001159397	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																			C|0.978;T|0.022	0.022	strong		0.582	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		T	157771979	C	T	157771979	2	4	22	1	0	0	0	0	0	0	0	1	5794	639	23	1		1	FCRL1	1	157771979	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35306	157771979	91478642	722	5830										
CD5L	922	hgsc.bcm.edu	37	chr1	157805650	157805650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgatgccccagcatcttcAtcatgtgaacaatcataaac	5	13	4	1	rs11537583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:157805650A>T	ENST00000368174.4	-	3	447	c.351T>A	c.(349-351)gaT>gaA	p.D117E	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	117	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.		D -> E (in dbSNP:rs11537583).		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCATCTTCATCATGTGAAC	0.493													A|||	602	0.120208	0.1619	0.2147	5008	,	,		20779	0.1736		0.007	False		,,,				2504	0.0583				p.D117E		Atlas-SNP	.											.	CD5L	112	.	0			c.T351A						PASS	.	A	GLU/ASP	605,3801	264.7+/-266.2	44,517,1642	145	145	145		351	-9.4	0	1	dbSNP_120	145	64,8536	38.3+/-94.2	0,64,4236	yes	missense	CD5L	NM_005894.2	45	44,581,5878	TT,TA,AA		0.7442,13.7313,5.1438	benign	117/348	157805650	669,12337	2203	4300	6503	SO:0001583	missense	922	exon3			ATCTTCATCATGT	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.351T>A	1.37:g.157805650A>T	ENSP00000357156:p.Asp117Glu	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	166	91	0.548193	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	254	0.1163003663003663	91	0.18495934959349594	47	0.1298342541436464	111	0.19405594405594406	5	0.006596306068601583	A	0.034	-1.316803	0.01331	0.137313	0.007442	ENSG00000073754	ENST00000368174	T	0.32988	1.43	4.68	-9.36	0.00629	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.958050	0.01125	N	0.005879	T	0.02455	0.0075	N	0.25144	0.715	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	9	0.02654	T	1	.	1.0475	0.01572	0.355:0.1891:0.2995:0.1564	rs11537583;rs16839277;rs52820854;rs11537583	117	O43866	CD5L_HUMAN	E	117	ENSP00000357156:D117E	ENSP00000357156:D117E	D	-	3	2	CD5L	156072274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.389000	0.00488	-4.209000	0.00065	-0.624000	0.04008	GAT	A|0.920;T|0.080	0.080	strong		0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		T	157805650	A	T	157805650	3	4	22	1	0	0	0	0	1	0	0	0	3027	214	8	5	708	5	CD5L	1	157805650	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33671	157805650	91444971	723	5831										
KIRREL	55243	hgsc.bcm.edu	37	chr1	158057633	158057633	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaggccacagccaacccCgagatcttgggctacaggtg	12	14	1	1	rs36008419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158057633C>G	ENST00000359209.6	+	6	817	c.750C>G	c.(748-750)ccC>ccG	p.P250P	KIRREL_ENST00000416935.2_Silent_p.P150P|KIRREL_ENST00000360089.4_Silent_p.P86P|KIRREL_ENST00000368172.1_Silent_p.P48P|KIRREL_ENST00000392272.2_Silent_p.P147P|KIRREL_ENST00000368173.3_Silent_p.P250P			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	250	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.P86P(1)|p.P250P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGCCAACCCCGAGATCTTGG	0.597											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1144	0.228435	0.2935	0.2277	5008	,	,		17136	0.2401		0.1938	False		,,,				2504	0.1646				p.P250P		Atlas-SNP	.											KIRREL_ENST00000368173,NS,carcinoma,0,2	KIRREL	346	2	2	Substitution - coding silent(2)	stomach(2)	c.C750G						PASS	.	C		1196,3210	412.8+/-336.2	162,872,1169	49	45	47		750	-11.2	0	1	dbSNP_126	47	1811,6789	319.7+/-314.3	182,1447,2671	no	coding-synonymous	KIRREL	NM_018240.5		344,2319,3840	GG,GC,CC		21.0581,27.1448,23.1201		250/758	158057633	3007,9999	2203	4300	6503	SO:0001819	synonymous_variant	55243	exon6			CAACCCCGAGATC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.750C>G	1.37:g.158057633C>G		Somatic	108	1	0.00925926	1790	WXS	Illumina HiSeq	Phase_I	97	97	1	NM_018240	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	CCDS1172.2																																																																																			C|0.762;G|0.238	0.238	strong		0.597	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		G	158057633	C	G	158057633	2	3	22	1	0	0	0	0	0	0	0	1	8324	639	23	4		4	KIRREL	1	158057633	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	251983	158057633	91192988	724	5832										
CD1B	910	hgsc.bcm.edu	37	chr1	158299299	158299299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggcaggatgtcccctagCtgagtgccctgctgctcctg	13	13	0	1	rs11806249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158299299C>T	ENST00000368168.3	-	4	854	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	249	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGTCCCCTAGCTGAGTGCCCT	0.612													.|||	67	0.0133786	0.0499	0.0014	5008	,	,		18986	0.0		0.0	False		,,,				2504	0.0				p.Q249Q		Atlas-SNP	.											.	CD1B	78	.	0			c.G747A						PASS	.	C		188,4218	120.0+/-157.7	5,178,2020	140	124	129		747	2.3	0	1	dbSNP_120	129	0,8600		0,0,4300	no	coding-synonymous	CD1B	NM_001764.2		5,178,6320	TT,TC,CC		0.0,4.2669,1.4455		249/334	158299299	188,12818	2203	4300	6503	SO:0001819	synonymous_variant	910	exon4			CCCTAGCTGAGTG	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.747G>A	1.37:g.158299299C>T		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	325	151	0.464615	NM_001764	Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	CCDS1176.1																																																																																			C|0.984;T|0.016	0.016	strong		0.612	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		T	158299299	C	T	158299299	2	4	22	1	0	0	0	0	0	0	0	1	2975	796	28	2		2	CD1B	1	158299299	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	241666	158299299	90951322	725	5833										
CD1E	913	hgsc.bcm.edu	37	chr1	158324425	158324425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacttccatagttttatccAgatagtgcaagcttctgctg	7	9	1	1	rs1065457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158324425A>G	ENST00000368167.3	+	2	556	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	CD1E_ENST00000368163.3_Missense_Mutation_p.Q106R|CD1E_ENST00000368165.3_Missense_Mutation_p.Q106R|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q106R|CD1E_ENST00000368156.1_Missense_Mutation_p.Q106R|CD1E_ENST00000368155.3_Missense_Mutation_p.Q106R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q104R|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.Q106R|CD1E_ENST00000444681.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	106			Q -> R (in allele CD1E*02, allele CD1E*05 and CD1E*06; dbSNP:rs1065457). {ECO:0000269|PubMed:10488738, ECO:0000269|PubMed:10948205, ECO:0000269|PubMed:12144626}.		antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTTTTATCCAGATAGTGCAA	0.428													G|||	3087	0.616414	0.8964	0.415	5008	,	,		22018	0.6617		0.3579	False		,,,				2504	0.6002				p.Q106R		Atlas-SNP	.											.	CD1E	129	.	0			c.A317G	GRCh37	CM067657	CD1E	M	rs1065457	PASS	.	G	ARG/GLN,ARG/GLN,ARG/GLN,,,ARG/GLN,ARG/GLN,,,,,ARG/GLN,ARG/GLN	3006,842		1166,674,84	63	63	63		317,317,317,,,317,317,,,,,317,317	-5.5	0	1	dbSNP_86	63	2869,5465		492,1885,1790	yes	missense,missense,missense,intron,intron,missense,missense,intron,intron,intron,intron,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	43,43,43,,,43,43,,,,,43,43	1658,2559,1874	GG,GA,AA		34.4252,21.8815,48.2269	benign,benign,benign,,,benign,benign,,,,,benign,benign	106/377,106/291,106/322,,,106/299,106/232,,,,,106/287,106/389	158324425	5875,6307	1924	4167	6091	SO:0001583	missense	913	exon2			TTATCCAGATAGT	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.317A>G	1.37:g.158324425A>G	ENSP00000357149:p.Gln106Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_001185107	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	1208	0.5531135531135531	431	0.8760162601626016	143	0.39502762430939226	364	0.6363636363636364	270	0.3562005277044855	G	0.955	-0.705122	0.03255	0.781185	0.344252	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.16457	2.34;2.34;3.63;2.34;2.34;2.34;3.83;3.73	3.8	-5.46	0.02608	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	4.005330	0.00702	N	0.000789	T	0.00875	0.0029	N	0.02674	-0.535	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001;0.0;0.001	T	0.24012	-1.0172	9	0.02654	T	1	2.1543	0.268	0.00227	0.3302:0.2288:0.221:0.2199	rs1065457;rs57813521;rs1065457	104;106;106;106;106;106;106;106	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	R	104;106;106;106;106;106;106;106	ENSP00000401957:Q104R;ENSP00000357149:Q106R;ENSP00000357147:Q106R;ENSP00000357145:Q106R;ENSP00000357142:Q106R;ENSP00000357143:Q106R;ENSP00000357138:Q106R;ENSP00000357137:Q106R	ENSP00000357137:Q106R	Q	+	2	0	CD1E	156591049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.010000	0.00314	-1.710000	0.01397	-0.213000	0.12676	CAG	A|0.437;G|0.563	0.563	strong		0.428	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		G	158324425	A	G	158324425	3	3	22	1	0	0	0	0	1	0	0	0	2978	188	7	3	323	3	CD1E	1	158324425	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25126	158324425	90926196	726	5834										
CD1E	913	hgsc.bcm.edu	37	chr1	158325765	158325765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcactcagcgaggggaCgtcctgcctaatgctgacga	15	12	1	1	rs61734677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158325765C>T	ENST00000368167.3	+	4	1013	c.774C>T	c.(772-774)gaC>gaT	p.D258D	CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368165.3_Silent_p.D168D|CD1E_ENST00000368164.3_Silent_p.D69D|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.D258D|CD1E_ENST00000368156.1_Silent_p.D168D|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Silent_p.D69D|CD1E_ENST00000434258.1_Silent_p.D256D|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Silent_p.D69D|CD1E_ENST00000368160.3_Silent_p.D258D|CD1E_ENST00000444681.2_Silent_p.D159D	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	258	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCGAGGGGACGTCCTGCCTA	0.617													C|||	198	0.0395367	0.1483	0.0029	5008	,	,		15430	0.0		0.0	False		,,,				2504	0.0				p.D258D		Atlas-SNP	.											.	CD1E	129	.	0			c.C774T						PASS	.	C	,,,,,,,,,,,,	609,3797	265.9+/-266.9	48,513,1642	115	111	112		774,774,,207,207,504,,,207,,477,504,774	-5.1	0	1	dbSNP_129	112	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	,,,,,,,,,,,,	48,519,5936	TT,TC,CC		0.0698,13.8221,4.7286	,,,,,,,,,,,,	258/377,258/291,,69/188,69/102,168/299,,,69/200,,159/290,168/287,258/389	158325765	615,12391	2203	4300	6503	SO:0001819	synonymous_variant	913	exon4			AGGGGACGTCCTG	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.774C>T	1.37:g.158325765C>T		Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	313	162	0.517572	NM_001042584	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1	66	0.03021978021978022	65	0.13211382113821138	1	0.0027624309392265192	0	0.0	0	0.0	C	0.065	-1.215843	0.01542	0.138221	6.98E-4	ENSG00000158488	ENST00000368162	.	.	.	4.6	-5.12	0.02893	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-27.8278	6.6347	0.22877	0.1308:0.2718:0.0:0.5974	rs61734677	.	.	.	C	28	.	.	R	+	1	0	CD1E	156592389	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.235000	0.00269	-1.234000	0.02548	-1.008000	0.02478	CGT	C|0.978;T|0.022	0.022	strong		0.617	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		T	158325765	C	T	158325765	2	4	22	1	0	0	0	0	0	0	0	1	2978	535	19	1		1	CD1E	1	158325765	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1340	158325765	90924856	727	5835										
CD1E	913	hgsc.bcm.edu	37	chr1	158325819	158325819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagcaaccctggatgtggcGgctggggaggcagctggcct	18	11	0	0	rs61734678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158325819G>A	ENST00000368167.3	+	4	1067	c.828G>A	c.(826-828)gcG>gcA	p.A276A	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Silent_p.A87A|CD1E_ENST00000368166.3_Silent_p.A87A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Silent_p.A177A|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Silent_p.A186A|CD1E_ENST00000368165.3_Silent_p.A186A|CD1E_ENST00000434258.1_Silent_p.A274A|CD1E_ENST00000368160.3_Silent_p.A276A	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	276	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGATGTGGCGGCTGGGGAGG	0.607													G|||	70	0.0139776	0.0507	0.0043	5008	,	,		15775	0.0		0.0	False		,,,				2504	0.0				p.A276A		Atlas-SNP	.											CD1E,colon,carcinoma,+1,2	CD1E	129	2	0			c.G828A						PASS	.	G	,,,,,,,,,,,,	153,4253	104.3+/-142.8	6,141,2056	85	86	86		828,,,261,,558,,,261,,531,558,828	-8.6	0	1	dbSNP_129	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,coding-synonymous,intron,coding-synonymous,intron,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	,,,,,,,,,,,,	6,142,6355	AA,AG,GG		0.0116,3.4725,1.1841	,,,,,,,,,,,,	276/377,,,87/188,,186/299,,,87/200,,177/290,186/287,276/389	158325819	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	913	exon4			TGTGGCGGCTGGG	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.828G>A	1.37:g.158325819G>A		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	249	114	0.457831	NM_030893	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1																																																																																			G|0.988;A|0.012	0.012	strong		0.607	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		A	158325819	G	A	158325819	2	1	22	1	0	0	0	0	0	0	0	1	2978	1103	39	1		1	CD1E	1	158325819	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54	158325819	90924802	728	5836										
CD1E	913	hgsc.bcm.edu	37	chr1	158326645	158326645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcgtggatcaaaaacagaGtattgaagaagtggaagaca	11	4	1	4	rs61734680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158326645G>A	ENST00000368167.3	+	6	1365	c.1126G>A	c.(1126-1128)Gta>Ata	p.V376I	CD1E_ENST00000368163.3_Missense_Mutation_p.V309I|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.V132I|CD1E_ENST00000368160.3_Missense_Mutation_p.V364I|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000444681.2_Missense_Mutation_p.V277I|CD1E_ENST00000368166.3_Missense_Mutation_p.V175I|CD1E_ENST00000368157.1_Missense_Mutation_p.V120I|CD1E_ENST00000452291.2_Missense_Mutation_p.V187I|CD1E_ENST00000368155.3_Missense_Mutation_p.V219I|CD1E_ENST00000368165.3_Missense_Mutation_p.V286I|CD1E_ENST00000368156.1_Missense_Mutation_p.V274I	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	376					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAAAACAGAGTATTGAAGAA	0.438													G|||	198	0.0395367	0.1483	0.0029	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0				p.V376I		Atlas-SNP	.											.	CD1E	129	.	0			c.G1126A						PASS	.	G	ILE/VAL,,ILE/VAL,ILE/VAL,,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	507,3337		39,429,1454	111	108	109		1090,,925,523,,856,655,358,559,394,829,820,1126	-7.8	0	1	dbSNP_129	109	6,8242		0,6,4118	yes	missense,utr-3,missense,missense,utr-3,missense,missense,missense,missense,missense,missense,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	29,,29,29,,29,29,29,29,29,29,29,29	39,435,5572	AA,AG,GG		0.0727,13.1894,4.2425	benign,,benign,benign,,benign,benign,benign,benign,benign,benign,benign,benign	364/377,,309/322,175/188,,286/299,219/232,120/133,187/200,132/145,277/290,274/287,376/389	158326645	513,11579	1922	4124	6046	SO:0001583	missense	913	exon6			AACAGAGTATTGA	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1126G>A	1.37:g.158326645G>A	ENSP00000357149:p.Val376Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_030893	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	66	0.03021978021978022	65	0.13211382113821138	1	0.0027624309392265192	0	0.0	0	0.0	G	7.949	0.744370	0.15710	0.131894	7.27E-4	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.48522	5.17;4.63;3.37;3.4;3.55;3.38;0.81;4.72;3.58;3.47;0.81	3.9	-7.8	0.01214	.	1.447200	0.04683	N	0.412624	T	0.05686	0.0149	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B;P;B;B	0.42078	0.002;0.009;0.0;0.001;0.001;0.001;0.003;0.77;0.003;0.0	B;B;B;B;B;B;B;B;B;B	0.38712	0.0;0.004;0.0;0.001;0.001;0.0;0.001;0.28;0.002;0.0	T	0.14476	-1.0471	10	0.30078	T	0.28	-0.168	2.001	0.03467	0.2855:0.3958:0.1205:0.1982	rs61734680	277;286;219;175;364;376;187;132;274;309	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	I	277;376;187;286;175;309;120;364;274;219;132	ENSP00000402906:V277I;ENSP00000357149:V376I;ENSP00000416228:V187I;ENSP00000357147:V286I;ENSP00000357148:V175I;ENSP00000357145:V309I;ENSP00000357139:V120I;ENSP00000357142:V364I;ENSP00000357138:V274I;ENSP00000357137:V219I;ENSP00000357136:V132I	ENSP00000357136:V132I	V	+	1	0	CD1E	156593269	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.133000	0.10451	-1.713000	0.01392	-2.501000	0.00191	GTA	G|0.978;A|0.022	0.022	strong		0.438	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		A	158326645	G	A	158326645	3	1	22	1	0	0	0	0	1	0	0	0	2978	1029	36	2	1148	2	CD1E	1	158326645	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	826	158326645	90923976	729	5837										
OR10T2	128360	hgsc.bcm.edu	37	chr1	158368541	158368541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatgtgaggcacaggtgAcaaaggccttcttgccctca	12	10	2	3	rs34465440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158368541A>G	ENST00000334438.1	-	1	715	c.716T>C	c.(715-717)gTc>gCc	p.V239A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGCACAGGTGACAAAGGCCTT	0.483													G|||	1829	0.365216	0.4191	0.3055	5008	,	,		19987	0.2262		0.3131	False		,,,				2504	0.5317				p.V239A		Atlas-SNP	.											OR10T2,colon,carcinoma,-1,1	OR10T2	76	1	0			c.T716C						PASS	.	G	ALA/VAL	1731,2675	649.8+/-398.9	336,1059,808	104	97	100		716	4.6	1	1	dbSNP_126	100	2674,5926	684.9+/-404.0	402,1870,2028	yes	missense	OR10T2	NM_001004475.1	64	738,2929,2836	GG,GA,AA		31.093,39.2873,33.869	benign	239/315	158368541	4405,8601	2203	4300	6503	SO:0001583	missense	128360	exon1			CAGGTGACAAAGG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.716T>C	1.37:g.158368541A>G	ENSP00000334115:p.Val239Ala	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	141	74	0.524823	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	702	0.32142857142857145	212	0.43089430894308944	98	0.27071823204419887	147	0.256993006993007	245	0.3232189973614776	G	3.269	-0.149557	0.06585	0.392873	0.31093	ENSG00000186306	ENST00000334438	T	0.00058	8.79	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	N	0.000819	T	0.00039	0.0001	N	0.01522	-0.82	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.00065	-1.2148	9	0.30078	T	0.28	.	11.8768	0.52552	0.0869:0.0:0.9131:0.0	rs34465440	239	Q8NGX3	O10T2_HUMAN	A	239	ENSP00000334115:V239A	ENSP00000334115:V239A	V	-	2	0	OR10T2	156635165	0.472000	0.25870	1.000000	0.80357	0.441000	0.31987	2.686000	0.46968	1.151000	0.42436	-0.119000	0.15052	GTC	A|0.662;G|0.338	0.338	strong		0.483	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		G	158368541	A	G	158368541	3	3	22	1	0	0	0	0	1	0	0	0	10919	275	10	2	230	2	OR10T2	1	158368541	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	41896	158368541	90882080	730	5838										
OR10T2	128360	hgsc.bcm.edu	37	chr1	158368846	158368846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaaccccagccttttgttTatgatgagtgtgtacctcag	8	11	1	2	rs6662382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158368846T>C	ENST00000334438.1	-	1	410	c.411A>G	c.(409-411)atA>atG	p.I137M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	137			I -> M (in dbSNP:rs6662382).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCCTTTTGTTTATGATGAGTG	0.458													C|||	1829	0.365216	0.4191	0.3055	5008	,	,		20669	0.2262		0.3131	False		,,,				2504	0.5317				p.I137M		Atlas-SNP	.											.	OR10T2	76	.	0			c.A411G						PASS	.	C	MET/ILE	1732,2674	649.7+/-398.9	336,1060,807	107	106	106		411	2.6	0.2	1	dbSNP_116	106	2674,5926	685.0+/-404.0	402,1870,2028	yes	missense	OR10T2	NM_001004475.1	10	738,2930,2835	CC,CT,TT		31.093,39.31,33.8767	benign	137/315	158368846	4406,8600	2203	4300	6503	SO:0001583	missense	128360	exon1			TTTGTTTATGATG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.411A>G	1.37:g.158368846T>C	ENSP00000334115:p.Ile137Met	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	153	74	0.48366	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	702	0.32142857142857145	212	0.43089430894308944	98	0.27071823204419887	147	0.256993006993007	245	0.3232189973614776	C	0.005	-2.191600	0.00302	0.3931	0.31093	ENSG00000186306	ENST00000334438	T	0.16073	2.37	4.57	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	N	0.000099	T	0.00666	0.0022	N	0.00074	-2.255	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	9	0.02654	T	1	.	9.2914	0.37789	0.0:0.507:0.4123:0.0807	rs6662382;rs52805250;rs60803248;rs6662382	137	Q8NGX3	O10T2_HUMAN	M	137	ENSP00000334115:I137M	ENSP00000334115:I137M	I	-	3	3	OR10T2	156635470	1.000000	0.71417	0.223000	0.23860	0.373000	0.29922	2.066000	0.41452	0.164000	0.19529	-0.119000	0.15052	ATA	T|0.659;C|0.341	0.341	strong		0.458	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		C	158368846	T	C	158368846	3	2	22	1	0	0	0	0	1	0	0	0	10919	1744	61	2	535	2	OR10T2	1	158368846	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	305	158368846	90881775	731	5839										
OR10T2	128360	hgsc.bcm.edu	37	chr1	158368915	158368915	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcccatcacagcaatgagGaggcagttggtgcaagcaaa	11	9	1	1	rs56704148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158368915G>T	ENST00000334438.1	-	1	341	c.342C>A	c.(340-342)ctC>ctA	p.L114L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCAATGAGGAGGCAGTTGG	0.498													G|||	46	0.0091853	0.034	0.0014	5008	,	,		21129	0.0		0.0	False		,,,				2504	0.0				p.L114L		Atlas-SNP	.											.	OR10T2	76	.	0			c.C342A						PASS	.	G		139,4267	98.0+/-136.7	5,129,2069	122	121	121		342	-1	1	1	dbSNP_129	121	0,8600		0,0,4300	no	coding-synonymous	OR10T2	NM_001004475.1		5,129,6369	TT,TG,GG		0.0,3.1548,1.0687		114/315	158368915	139,12867	2203	4300	6503	SO:0001819	synonymous_variant	128360	exon1			AATGAGGAGGCAG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.342C>A	1.37:g.158368915G>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	147	74	0.503401	NM_001004475	Q6IF98	Silent	SNP	ENST00000334438.1	37	CCDS30895.1																																																																																			G|0.989;T|0.011	0.011	strong		0.498	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		T	158368915	G	T	158368915	2	4	22	1	0	0	0	0	0	0	0	1	10919	1161	41	4		4	OR10T2	1	158368915	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69	158368915	90881706	732	5840										
OR10T2	128360	hgsc.bcm.edu	37	chr1	158369025	158369025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccagcagctgagggatgaTgacaaaagtgtagcaggact	14	7	0	3	rs6662597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158369025T>C	ENST00000334438.1	-	1	231	c.232A>G	c.(232-234)Atc>Gtc	p.I78V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	78			I -> V (in dbSNP:rs6662597).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGAGGGATGATGACAAAAGTG	0.502													T|||	63	0.0125799	0.0477	0.0	5008	,	,		20910	0.0		0.0	False		,,,				2504	0.0				p.I78V		Atlas-SNP	.											.	OR10T2	76	.	0			c.A232G						PASS	.	T	VAL/ILE	143,4263	99.4+/-138.0	3,137,2063	96	95	96		232	4.7	1	1	dbSNP_116	96	0,8600		0,0,4300	yes	missense	OR10T2	NM_001004475.1	29	3,137,6363	CC,CT,TT		0.0,3.2456,1.0995	possibly-damaging	78/315	158369025	143,12863	2203	4300	6503	SO:0001583	missense	128360	exon1			GGATGATGACAAA	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.232A>G	1.37:g.158369025T>C	ENSP00000334115:p.Ile78Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	91	53	0.582418	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	21	0.009615384615384616	21	0.042682926829268296	0	0.0	0	0.0	0	0.0	T	16.66	3.184032	0.57800	0.032456	0.0	ENSG00000186306	ENST00000334438	T	0.00611	6.23	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	U	0.001269	T	0.00271	0.0008	L	0.41573	1.285	0.09310	N	0.999995	P	0.36282	0.546	B	0.31442	0.13	T	0.50668	-0.8801	10	0.37606	T	0.19	.	13.3352	0.60515	0.0:0.0:0.0:1.0	rs6662597;rs52820437;rs56418545;rs6662597	78	Q8NGX3	O10T2_HUMAN	V	78	ENSP00000334115:I78V	ENSP00000334115:I78V	I	-	1	0	OR10T2	156635649	0.969000	0.33509	1.000000	0.80357	0.999000	0.98932	2.867000	0.48428	1.973000	0.57446	0.528000	0.53228	ATC	T|0.985;C|0.015	0.015	strong		0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		C	158369025	T	C	158369025	3	2	22	1	0	0	0	0	1	0	0	0	10919	1464	51	2	714	2	OR10T2	1	158369025	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110	158369025	90881596	733	5841										
OR10T2	128360	hgsc.bcm.edu	37	chr1	158369210	158369210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccaggctggagaaacccAccaggatgaactgtgtaacc	10	14	0	2	rs6660222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158369210A>G	ENST00000334438.1	-	1	46	c.47T>C	c.(46-48)gTg>gCg	p.V16A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	16			V -> A (in dbSNP:rs6660222).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGAGAAACCCACCAGGATGAA	0.448													A|||	103	0.0205671	0.0772	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.001				p.V16A		Atlas-SNP	.											.	OR10T2	76	.	0			c.T47C						PASS	.	A	ALA/VAL	237,4169	128.2+/-165.1	5,227,1971	35	39	37		47	4.7	0.9	1	dbSNP_116	37	0,8600		0,0,4300	yes	missense	OR10T2	NM_001004475.1	64	5,227,6271	GG,GA,AA		0.0,5.379,1.8222	benign	16/315	158369210	237,12769	2203	4300	6503	SO:0001583	missense	128360	exon1			AAACCCACCAGGA	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.47T>C	1.37:g.158369210A>G	ENSP00000334115:p.Val16Ala	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	111	53	0.477477	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	38	0.0173992673992674	38	0.07723577235772358	0	0.0	0	0.0	0	0.0	A	10.40	1.341006	0.24339	0.05379	0.0	ENSG00000186306	ENST00000334438	T	0.01406	4.93	4.65	4.65	0.58169	.	0.000000	0.34411	U	0.003988	T	0.00637	0.0021	L	0.41710	1.295	0.20764	N	0.99986	B	0.34161	0.439	B	0.36666	0.23	T	0.48658	-0.9016	10	0.87932	D	0	.	4.0026	0.09587	0.7202:0.0:0.0962:0.1837	rs6660222;rs52824469;rs56643236;rs6660222	16	Q8NGX3	O10T2_HUMAN	A	16	ENSP00000334115:V16A	ENSP00000334115:V16A	V	-	2	0	OR10T2	156635834	0.176000	0.23096	0.922000	0.36590	0.528000	0.34623	1.079000	0.30766	1.939000	0.56221	0.482000	0.46254	GTG	A|0.976;G|0.024	0.024	strong		0.448	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		G	158369210	A	G	158369210	3	3	22	1	0	0	0	0	1	0	0	0	10919	159	6	2	899	2	OR10T2	1	158369210	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	185	158369210	90881411	734	5842										
OR10K1	391109	hgsc.bcm.edu	37	chr1	158435572	158435572	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctctgagatttgctataCctttgtcattgtacccaaga					rs78779179|rs386635902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158435572C>T	ENST00000289451.2	+	1	301	c.221C>T	c.(220-222)aCc>aTc	p.T74I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATTTGCTATACCTTTGTCATT	0.453													C|||	189	0.0377396	0.1354	0.013	5008	,	,		24656	0.0		0.001	False		,,,				2504	0.0				p.T74I		Atlas-SNP	.											.	OR10K1	80	.	0			c.C221T						PASS	.	C	ILE/THR	501,3905	216.4+/-235.1	27,447,1729	209	190	197		221	4.5	1	1	dbSNP_131	197	8,8592	6.4+/-24.3	0,8,4292	yes	missense	OR10K1	NM_001004473.1	89	27,455,6021	TT,TC,CC		0.093,11.3709,3.9136	probably-damaging	74/314	158435572	509,12497	2203	4300	6503	SO:0001583	missense	391109	exon1			GCTATACCTTTGT	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.221C>T	1.37:g.158435572C>T	ENSP00000289451:p.Thr74Ile	Somatic	490	0	0		WXS	Illumina HiSeq	Phase_I	474	204	0.43038	NM_001004473	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	55	0.025183150183150184	49	0.09959349593495935	6	0.016574585635359115	0	0.0	0	0.0	c	13.70	2.316088	0.40996	0.113709	9.3E-4	ENSG00000173285	ENST00000289451	T	0.00444	7.4	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000467	T	0.00384	0.0012	L	0.49778	1.585	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53173	-0.8476	10	0.62326	D	0.03	.	10.4216	0.44354	0.0:0.9045:0.0:0.0955	.	74	Q8NGX5	O10K1_HUMAN	I	74	ENSP00000289451:T74I	ENSP00000289451:T74I	T	+	2	0	OR10K1	156702196	0.000000	0.05858	0.999000	0.59377	0.887000	0.51463	0.237000	0.17985	2.311000	0.77944	0.557000	0.71058	ACC	C|0.966;T|0.034	0.034	strong		0.453	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			T	158435572	C	T	158435572	3	4	22	1	0	0	0	0	1	0	0	0	10913	507	18	2	223	2	OR10K1	1	158435572	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66362	158435572	90815049	735	5843	118	2								
OR10K1	391109	hgsc.bcm.edu	37	chr1	158435573	158435573	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctctgagatttgctatacCtttgtcattgtacccaagat					rs76205582|rs386635902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158435573C>G	ENST00000289451.2	+	1	302	c.222C>G	c.(220-222)acC>acG	p.T74T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTTGCTATACCTTTGTCATTG	0.458													C|||	189	0.0377396	0.1354	0.013	5008	,	,		24689	0.0		0.001	False		,,,				2504	0.0				p.T74T		Atlas-SNP	.											.	OR10K1	80	.	0			c.C222G						PASS	.	C		503,3903	214.8+/-234.0	27,449,1727	209	190	196		222	-0.3	1	1	dbSNP_131	196	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	OR10K1	NM_001004473.1		27,457,6019	GG,GC,CC		0.093,11.4163,3.929		74/314	158435573	511,12495	2203	4300	6503	SO:0001819	synonymous_variant	391109	exon1			CTATACCTTTGTC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.222C>G	1.37:g.158435573C>G		Somatic	489	1	0.00204499		WXS	Illumina HiSeq	Phase_I	474	205	0.432489	NM_001004473	Q6IFS2	Silent	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																			C|0.966;G|0.034	0.034	strong		0.458	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			G	158435573	C	G	158435573	2	3	22	1	0	0	0	0	0	0	0	1	10913	668	24	4		4	OR10K1	1	158435573	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	158435573	90815048	736	5844	118	2								
OR10K1	391109	hgsc.bcm.edu	37	chr1	158436201	158436201	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catacaccatccttaccccaTtgttcaatccaatgatttat	2	13	1	1	rs76117330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158436201T>C	ENST00000289451.2	+	1	930	c.850T>C	c.(850-852)Ttg>Ctg	p.L284L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTACCCCATTGTTCAATCC	0.388													T|||	189	0.0377396	0.1354	0.013	5008	,	,		21238	0.0		0.001	False		,,,				2504	0.0				p.L284L		Atlas-SNP	.											.	OR10K1	80	.	0			c.T850C						PASS	.	T		513,3893	235.2+/-247.8	29,455,1719	146	140	142		850	-7	0	1	dbSNP_131	142	8,8592	7.1+/-27.0	0,8,4292	no	coding-synonymous	OR10K1	NM_001004473.1		29,463,6011	CC,CT,TT		0.093,11.6432,4.0058		284/314	158436201	521,12485	2203	4300	6503	SO:0001819	synonymous_variant	391109	exon1			ACCCCATTGTTCA	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.850T>C	1.37:g.158436201T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	139	62	0.446043	NM_001004473	Q6IFS2	Silent	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																			T|0.963;C|0.037	0.037	strong		0.388	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			C	158436201	T	C	158436201	2	2	22	1	0	0	0	0	0	0	0	1	10913	1490	52	2		2	OR10K1	1	158436201	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	628	158436201	90814420	737	5845										
OR10R2	343406	hgsc.bcm.edu	37	chr1	158450314	158450314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaacacagatgttaacgAatttgtgatattcatttgtg	7	6	1	2	rs6679056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158450314A>G	ENST00000368152.1	+	1	647	c.647A>G	c.(646-648)gAa>gGa	p.E216G	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	216			E -> G (in dbSNP:rs6679056).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GATGTTAACGAATTTGTGATA	0.403													A|||	2486	0.496406	0.4781	0.4424	5008	,	,		23048	0.5675		0.5577	False		,,,				2504	0.4233				p.E216G		Atlas-SNP	.											OR10R2,colon,carcinoma,+1,1	OR10R2	81	1	0			c.A647G						scavenged	.	A	GLY/GLU	2124,2282	577.1+/-384.4	498,1128,577	158	147	151		647	4.4	0.1	1	dbSNP_116	151	4582,4018	596.6+/-393.6	1248,2086,966	yes	missense	OR10R2	NM_001004472.1	98	1746,3214,1543	GG,GA,AA		46.7209,48.207,48.4392	probably-damaging	216/336	158450314	6706,6300	2203	4300	6503	SO:0001583	missense	343406	exon1			TTAACGAATTTGT	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.647A>G	1.37:g.158450314A>G	ENSP00000357134:p.Glu216Gly	Somatic	216	2	0.00925926		WXS	Illumina HiSeq	Phase_I	228	110	0.482456	NM_001004472	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	CCDS30898.1	1191	0.5453296703296703	246	0.5	162	0.44751381215469616	349	0.6101398601398601	434	0.5725593667546174	a	10.57	1.387362	0.25031	0.48207	0.532791	ENSG00000198965	ENST00000368152	T	0.00258	8.41	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	M	0.73962	2.25	0.58432	P	4.000000000004E-6	B	0.20052	0.041	B	0.25405	0.06	T	0.23261	-1.0193	8	0.56958	D	0.05	.	8.3167	0.32104	0.8235:0.0:0.0:0.1765	rs6679056;rs17629469;rs61345997;rs6679056	216	Q8NGX6	O10R2_HUMAN	G	216	ENSP00000357134:E216G	ENSP00000357134:E216G	E	+	2	0	OR10R2	156716938	0.008000	0.16893	0.124000	0.21820	0.888000	0.51559	1.838000	0.39211	1.801000	0.52704	0.533000	0.62120	GAA	A|0.467;G|0.533	0.533	strong		0.403	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		G	158450314	A	G	158450314	3	3	22	1	0	0	0	0	1	0	0	0	10917	246	9	2	649	2	OR10R2	1	158450314	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14113	158450314	90800307	738	5846										
OR6Y1	391112	hgsc.bcm.edu	37	chr1	158517099	158517099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcatacatgagtttgggaCgggcataggtgaaaagtgtc	15	5	0	2	rs113154921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158517099C>A	ENST00000302617.3	-	1	796	c.797G>T	c.(796-798)cGt>cTt	p.R266L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAGTTTGGGACGGGCATAGGT	0.483													C|||	99	0.0197684	0.0719	0.0043	5008	,	,		24161	0.0		0.001	False		,,,				2504	0.0				p.R266L		Atlas-SNP	.											.	OR6Y1	73	.	0			c.G797T						PASS	.	C	LEU/ARG	264,4142	148.4+/-182.8	11,242,1950	208	195	200		797	3.5	1	1	dbSNP_132	200	5,8595	5.0+/-18.6	0,5,4295	yes	missense	OR6Y1	NM_001005189.1	102	11,247,6245	AA,AC,CC		0.0581,5.9918,2.0683	probably-damaging	266/326	158517099	269,12737	2203	4300	6503	SO:0001583	missense	391112	exon1			TTGGGACGGGCAT	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.797G>T	1.37:g.158517099C>A	ENSP00000304807:p.Arg266Leu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	142	68	0.478873	NM_001005189	Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	CCDS30899.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	18.23	3.577221	0.65878	0.059918	5.81E-4	ENSG00000197532	ENST00000302617	T	0.36699	1.24	5.34	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000750	T	0.35740	0.0942	M	0.73319	2.225	0.09310	N	1	D	0.64830	0.994	P	0.58660	0.843	T	0.18681	-1.0329	10	0.87932	D	0	.	8.5271	0.33311	0.0:0.7603:0.0:0.2397	.	266	Q8NGX8	OR6Y1_HUMAN	L	266	ENSP00000304807:R266L	ENSP00000304807:R266L	R	-	2	0	OR6Y1	156783723	0.000000	0.05858	0.983000	0.44433	0.927000	0.56198	-0.100000	0.10990	0.822000	0.34565	0.655000	0.94253	CGT	A|0.018;C|0.982;G|0.000	0.018	strong		0.483	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		A	158517099	C	A	158517099	3	1	22	1	0	0	0	0	1	0	0	0	11213	536	19	4	182	4	OR6Y1	1	158517099	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66785	158517099	90733522	739	5847										
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549082	158549082	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttactgtctatacaagacAgcctaataactgccagcata	7	10	1	1	rs61755876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158549082A>T	ENST00000368150.1	-	1	607	c.608T>A	c.(607-609)cTg>cAg	p.L203Q		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TATACAAGACAGCCTAATAAC	0.433													A|||	79	0.0157748	0.0582	0.0029	5008	,	,		22248	0.0		0.0	False		,,,				2504	0.0				p.L203Q		Atlas-SNP	.											.	OR10X1	96	.	0			c.T608A						PASS	.	A	GLN/LEU	227,4179	134.9+/-171.1	6,215,1982	85	85	85		608	4.8	0	1	dbSNP_129	85	3,8597	2.2+/-6.3	0,3,4297	yes	missense	OR10X1	NM_001004477.1	113	6,218,6279	TT,TA,AA		0.0349,5.1521,1.7684	probably-damaging	203/327	158549082	230,12776	2203	4300	6503	SO:0001583	missense	128367	exon1			CAAGACAGCCTAA	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.608T>A	1.37:g.158549082A>T	ENSP00000357132:p.Leu203Gln	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	207	100	0.483092	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	26	0.011904761904761904	26	0.052845528455284556	0	0.0	0	0.0	0	0.0	A	13.52	2.261476	0.39995	0.051521	3.49E-4	ENSG00000186400	ENST00000368150	T	0.00411	7.53	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002120	T	0.01124	0.0037	H	0.97390	3.995	0.22684	N	0.998857	D	0.89917	1.0	D	0.97110	1.0	T	0.29701	-1.0003	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	rs61755876	203	Q8NGY0	O10X1_HUMAN	Q	203	ENSP00000357132:L203Q	ENSP00000357132:L203Q	L	-	2	0	OR10X1	156815706	0.944000	0.32072	0.042000	0.18584	0.176000	0.22953	8.331000	0.90022	1.998000	0.58463	0.455000	0.32223	CTG	A|0.972;T|0.028	0.028	strong		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549082	A	T	158549082	3	4	22	1	0	0	0	0	1	0	0	0	10922	188	7	5	367	5	OR10X1	1	158549082	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31983	158549082	90701539	740	5848			4	33	5665371	5	5	430	N	G_C_A	2.000878e-05
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549264	158549264	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatatcttagagggttacaGatggccaggaagcggtcata	14	6	2	2	rs863360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158549264G>A	ENST00000368150.1	-	1	425	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGGGTTACAGATGGCCAGGA	0.458													G|||	2516	0.502396	0.5741	0.4135	5008	,	,		22554	0.5853		0.4732	False		,,,				2504	0.4131				p.I142I		Atlas-SNP	.											OR10X1,NS,carcinoma,0,1	OR10X1	96	1	0			c.C426T						PASS	.	G		2499,1907	627.1+/-394.8	679,1141,383	75	76	75		426	2.1	1	1	dbSNP_86	75	3826,4774	538.9+/-383.5	877,2072,1351	no	coding-synonymous	OR10X1	NM_001004477.1		1556,3213,1734	AA,AG,GG		44.4884,43.2819,48.6314		142/327	158549264	6325,6681	2203	4300	6503	SO:0001819	synonymous_variant	128367	exon1			GTTACAGATGGCC	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.426C>T	1.37:g.158549264G>A		Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	252	127	0.503968	NM_001004477	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																			G|0.489;A|0.511	0.511	strong		0.458	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549264	G	A	158549264	2	1	22	1	0	0	0	0	0	0	0	1	10922	932	33	2		2	OR10X1	1	158549264	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	182	158549264	90701357	741	5849			4	33	5665371	5	5	430	N	G_C_A	2.000878e-05
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549420	158549420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttggggacgatggtcagCgtatagcaggtctcagagaa	14	7	3	1	rs863361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158549420C>T	ENST00000368150.1	-	1	269	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CGATGGTCAGCGTATAGCAGG	0.493													T|||	2596	0.518371	0.6324	0.4164	5008	,	,		21121	0.5853		0.4732	False		,,,				2504	0.4141				p.T90T		Atlas-SNP	.											OR10X1,face,carcinoma,-2,1	OR10X1	96	1	0			c.G270A						PASS	.	T		2726,1680	510.9+/-367.7	824,1078,301	106	100	102		270	-7.3	0	1	dbSNP_86	102	3829,4771	612.1+/-395.9	876,2077,1347	no	coding-synonymous	OR10X1	NM_001004477.1		1700,3155,1648	TT,TC,CC		44.5233,38.1298,49.6002		90/327	158549420	6555,6451	2203	4300	6503	SO:0001819	synonymous_variant	128367	exon1			GGTCAGCGTATAG	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.270G>A	1.37:g.158549420C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_001004477	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																			C|0.471;T|0.529	0.529	strong		0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549420	C	T	158549420	2	4	22	1	0	0	0	0	0	0	0	1	10922	755	27	1		1	OR10X1	1	158549420	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	156	158549420	90701201	742	5850			4	33	5665371	5	5	430	N	G_C_A	2.000878e-05
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549492	158549492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtggagggacctgtccacCcaagttagacccatgatgat	12	10	0	3	rs863362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158549492C>T	ENST00000368150.1	-	1	197	c.198G>A	c.(196-198)tgG>tgA	p.W66*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACCTGTCCACCCAAGTTAGAC	0.478													C|||	2516	0.502396	0.5741	0.4135	5008	,	,		20922	0.5853		0.4732	False		,,,				2504	0.4131				p.W66X		Atlas-SNP	.											.	OR10X1	96	.	0			c.G198A	GRCh37	CM035844	OR10X1	M	rs863362	PASS	.	C	stop/TRP	2499,1907	627.1+/-394.8	679,1141,383	126	121	123		198	4.2	1	1	dbSNP_86	123	3826,4774	538.8+/-383.5	876,2074,1350	yes	stop-gained	OR10X1	NM_001004477.1		1555,3215,1733	TT,TC,CC		44.4884,43.2819,48.6314		66/327	158549492	6325,6681	2203	4300	6503	SO:0001587	stop_gained	128367	exon1			GTCCACCCAAGTT	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.198G>A	1.37:g.158549492C>T	ENSP00000357132:p.Trp66*	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	140	66	0.471429	NM_001004477	Q6IFR8	Nonsense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	1168	0.5347985347985348	292	0.5934959349593496	151	0.4171270718232044	355	0.6206293706293706	370	0.48812664907651715	C	14.65	2.598003	0.46318	0.567181	0.444884	ENSG00000186400	ENST00000368150	.	.	.	5.13	4.18	0.49190	.	0.153354	0.31221	N	0.008035	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	13.0701	0.59057	0.0:0.8393:0.1607:0.0	rs863362;rs17633629;rs52794442;rs58574723;rs863362	.	.	.	X	66	.	ENSP00000357132:W66X	W	-	3	0	OR10X1	156816116	0.000000	0.05858	0.956000	0.39512	0.514000	0.34195	-0.039000	0.12124	2.648000	0.89879	0.650000	0.86243	TGG	C|0.488;N|0.000	.	strong		0.478	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549492	C	T	158549492	4	4	22	1	0	0	0	0	0	1	0	0	10922	624	22	2	777	2	OR10X1	1	158549492	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72	158549492	90701129	743	5851			4	33	5665371	5	5	430	N	G_C_A	2.000878e-05
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549511	158549511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaagttagacccatgatgAtcagattacctgcaagggtg	10	10	1	4	rs863363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158549511A>G	ENST00000368150.1	-	1	178	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	60			I -> T (in dbSNP:rs863363).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACCCATGATGATCAGATTACC	0.458													G|||	2595	0.518171	0.6324	0.4164	5008	,	,		20990	0.5853		0.4732	False		,,,				2504	0.4131				p.I60T		Atlas-SNP	.											.	OR10X1	96	.	0			c.T179C						PASS	.	G	THR/ILE	2726,1680	510.6+/-367.6	824,1078,301	127	123	124		179	3.2	0.3	1	dbSNP_86	124	3829,4771	612.1+/-395.9	876,2077,1347	yes	missense	OR10X1	NM_001004477.1	89	1700,3155,1648	GG,GA,AA		44.5233,38.1298,49.6002	benign	60/327	158549511	6555,6451	2203	4300	6503	SO:0001583	missense	128367	exon1			ATGATGATCAGAT	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.179T>C	1.37:g.158549511A>G	ENSP00000357132:p.Ile60Thr	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	1194	0.5467032967032966	318	0.6463414634146342	151	0.4171270718232044	355	0.6206293706293706	370	0.48812664907651715	G	0.010	-1.774832	0.00640	0.618702	0.445233	ENSG00000186400	ENST00000368150	T	0.01139	5.28	5.13	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	1.012140	0.07936	N	0.978378	T	0.00241	0.0007	N	0.12831	0.26	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30937	-0.9961	9	0.10377	T	0.69	.	4.2448	0.10667	0.3305:0.1617:0.5077:0.0	rs863363;rs17684795;rs52797051;rs59753391;rs863363	60	Q8NGY0	O10X1_HUMAN	T	60	ENSP00000357132:I60T	ENSP00000357132:I60T	I	-	2	0	OR10X1	156816135	0.000000	0.05858	0.254000	0.24359	0.204000	0.24138	-0.149000	0.10204	0.296000	0.22592	-0.128000	0.14901	ATC	A|0.470;G|0.529	0.529	strong		0.458	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		G	158549511	A	G	158549511	3	3	22	1	0	0	0	0	1	0	0	0	10922	333	12	2	796	2	OR10X1	1	158549511	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19	158549511	90701110	744	5852			4	33	5665371	5	5	430	N	G_C_A	2.000878e-05
OR10Z1	128368	hgsc.bcm.edu	37	chr1	158576394	158576394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggctggatagccatctgCacacccccatgtacctcttc	7	16	3	0	rs116792162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158576394C>A	ENST00000361284.1	+	1	166	c.166C>A	c.(166-168)Cac>Aac	p.H56N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TAGCCATCTGCACACCCCCAT	0.512													C|||	36	0.0071885	0.0265	0.0014	5008	,	,		20596	0.0		0.0	False		,,,				2504	0.0				p.H56N		Atlas-SNP	.											OR10Z1,right_upper_lobe,carcinoma,-1,1	OR10Z1	99	1	0			c.C166A						PASS	.	C	ASN/HIS	101,4305	79.9+/-118.3	1,99,2103	257	247	251		166	5.4	0.9	1	dbSNP_132	251	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR10Z1	NM_001004478.1	68	1,100,6402	AA,AC,CC		0.0116,2.2923,0.7843	probably-damaging	56/314	158576394	102,12904	2203	4300	6503	SO:0001583	missense	128368	exon1			CATCTGCACACCC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.166C>A	1.37:g.158576394C>A	ENSP00000354707:p.His56Asn	Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	368	182	0.494565	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	16.63	3.176489	0.57692	0.022923	1.16E-4	ENSG00000198967	ENST00000361284	T	0.15952	2.38	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000544	T	0.42449	0.1203	M	0.92268	3.29	0.34002	D	0.650477	D	0.76494	0.999	D	0.79108	0.992	T	0.56312	-0.8000	10	0.66056	D	0.02	.	13.5532	0.61745	0.1563:0.8437:0.0:0.0	.	56	Q8NGY1	O10Z1_HUMAN	N	56	ENSP00000354707:H56N	ENSP00000354707:H56N	H	+	1	0	OR10Z1	156843018	0.443000	0.25641	0.927000	0.36925	0.716000	0.41182	1.115000	0.31209	2.783000	0.95769	0.655000	0.94253	CAC	C|0.992;A|0.008	0.008	strong		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		A	158576394	C	A	158576394	3	1	22	1	0	0	0	0	1	0	0	0	10923	710	25	4	168	4	OR10Z1	1	158576394	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26883	158576394	90674227	745	5853										
OR10Z1	128368	hgsc.bcm.edu	37	chr1	158576472	158576472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcatcatccctagaatgCtctctggcctggctgggggg	15	11	2	1	rs76424590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158576472C>T	ENST00000361284.1	+	1	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCCTAGAATGCTCTCTGGCCT	0.542													C|||	190	0.0379393	0.1377	0.0086	5008	,	,		20262	0.0		0.002	False		,,,				2504	0.0				p.L82F		Atlas-SNP	.											OR10Z1,NS,carcinoma,-2,1	OR10Z1	99	1	0			c.C244T						PASS	.	C	PHE/LEU	525,3881	238.7+/-250.0	33,459,1711	203	209	207		244	5.4	1	1	dbSNP_131	207	12,8588	9.1+/-34.3	0,12,4288	yes	missense	OR10Z1	NM_001004478.1	22	33,471,5999	TT,TC,CC		0.1395,11.9156,4.1289	probably-damaging	82/314	158576472	537,12469	2203	4300	6503	SO:0001583	missense	128368	exon1			AGAATGCTCTCTG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.244C>T	1.37:g.158576472C>T	ENSP00000354707:p.Leu82Phe	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	210	93	0.442857	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	68	0.031135531135531136	66	0.13414634146341464	2	0.0055248618784530384	0	0.0	0	0.0	C	17.17	3.321840	0.60634	0.119156	0.001395	ENSG00000198967	ENST00000361284	T	0.00419	7.48	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	N	0.002405	T	0.01222	0.0040	H	0.97077	3.935	0.26251	P	0.97873	D	0.89917	1.0	D	0.80764	0.994	T	0.03296	-1.1051	9	0.87932	D	0	.	13.5532	0.61745	0.1563:0.8437:0.0:0.0	.	82	Q8NGY1	O10Z1_HUMAN	F	82	ENSP00000354707:L82F	ENSP00000354707:L82F	L	+	1	0	OR10Z1	156843096	0.996000	0.38824	0.997000	0.53966	0.647000	0.38526	1.184000	0.32053	2.783000	0.95769	0.655000	0.94253	CTC	C|0.962;T|0.038	0.038	strong		0.542	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		T	158576472	C	T	158576472	3	4	22	1	0	0	0	0	1	0	0	0	10923	797	28	2	246	2	OR10Z1	1	158576472	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78	158576472	90674149	746	5854										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158587368	158587368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccagagttcctgtttcttTgagcaatgatctagttaaga	8	7	2	4	rs111980420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158587368T>C	ENST00000368147.4	-	47	6739	c.6559A>G	c.(6559-6561)Aaa>Gaa	p.K2187E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2187					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGTTTCTTTGAGCAATGAT	0.343													T|||	50	0.00998403	0.0363	0.0029	5008	,	,		21215	0.0		0.0	False		,,,				2504	0.0				p.K2187E		Atlas-SNP	.											.	SPTA1	720	.	0			c.A6559G						PASS	.	T	GLU/LYS	109,3607		1,107,1750	110	101	104		6559	4	1	1	dbSNP_132	104	1,8199		0,1,4099	yes	missense	SPTA1	NM_003126.2	56	1,108,5849	CC,CT,TT		0.0122,2.9333,0.9231	benign	2187/2420	158587368	110,11806	1858	4100	5958	SO:0001583	missense	6708	exon47			TTTCTTTGAGCAA	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6559A>G	1.37:g.158587368T>C	ENSP00000357129:p.Lys2187Glu	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	190	112	0.589474	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	T	5.051	0.195152	0.09599	0.029333	1.22E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.15	4.01	0.46588	.	0.000000	0.33792	N	0.004556	T	0.07728	0.0194	N	0.12182	0.205	0.34813	D	0.737938	B	0.10296	0.003	B	0.09377	0.004	T	0.27262	-1.0079	10	0.02654	T	1	.	5.5016	0.16831	0.0:0.0873:0.1765:0.7361	.	2187	P02549	SPTA1_HUMAN	E	2187;2184	ENSP00000357130:K2187E;ENSP00000357129:K2184E	ENSP00000357129:K2184E	K	-	1	0	SPTA1	156853992	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.835000	0.48175	1.068000	0.40764	0.533000	0.62120	AAA	T|0.994;C|0.006	0.006	strong		0.343	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158587368	T	C	158587368	3	2	22	1	0	0	0	0	1	0	0	0	15115	1821	63	2	724	2	SPTA1	1	158587368	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10896	158587368	90663253	747	5855										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158612236	158612236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgccatcacaagcgctacActcaatcagggagttcccca	7	14	3	0	rs863931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158612236A>G	ENST00000368147.4	-	33	4882	c.4702T>C	c.(4702-4704)Tgt>Cgt	p.C1568R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1568			C -> R (in dbSNP:rs863931). {ECO:0000269|PubMed:1689726, ECO:0000269|PubMed:3000887}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGCGCTACACTCAATCAGG	0.468													G|||	2975	0.59405	0.6853	0.5605	5008	,	,		13150	0.6359		0.5865	False		,,,				2504	0.4591				p.C1568R		Atlas-SNP	.											.	SPTA1	720	.	0			c.T4702C						PASS	.	G	ARG/CYS	2688,1274		915,858,208	105	105	105		4702	1	0.2	1	dbSNP_86	105	4689,3653		1346,1997,828	yes	missense	SPTA1	NM_003126.2	180	2261,2855,1036	GG,GA,AA		43.7905,32.1555,40.0439	benign	1568/2420	158612236	7377,4927	1981	4171	6152	SO:0001583	missense	6708	exon33			CGCTACACTCAAT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4702T>C	1.37:g.158612236A>G	ENSP00000357129:p.Cys1568Arg	Somatic	387	1	0.00258398		WXS	Illumina HiSeq	Phase_I	407	186	0.457002	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	1362	0.6236263736263736	362	0.7357723577235772	199	0.5497237569060773	347	0.6066433566433567	454	0.5989445910290238	G	0.005	-2.205016	0.00296	0.678445	0.562095	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46451	0.87;0.87	5.26	1.01	0.19927	.	0.000000	0.30879	N	0.008681	T	0.02610	0.0079	N	0.00210	-1.845	0.44042	P	0.0032240000000000046	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	9	0.10377	T	0.69	.	10.0752	0.42355	0.0669:0.0:0.4509:0.4822	rs863931;rs2230860;rs17687023;rs34131035;rs61640254;rs863931	1568	P02549	SPTA1_HUMAN	R	1568	ENSP00000357130:C1568R;ENSP00000357129:C1568R	ENSP00000357129:C1568R	C	-	1	0	SPTA1	156878860	0.752000	0.28338	0.175000	0.22980	0.097000	0.18754	0.863000	0.27913	0.084000	0.17077	-0.119000	0.15052	TGT	A|0.379;G|0.621	0.621	strong		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158612236	A	G	158612236	3	3	22	1	0	0	0	0	1	0	0	0	15115	159	6	2	2637	2	SPTA1	1	158612236	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24868	158612236	90638385	748	5856										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158618320	158618320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatctcccaggggtacgagGtccctttcaaagccctcatg	9	13	3	0	rs34773716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158618320G>A	ENST00000368147.4	-	26	3873	c.3693C>T	c.(3691-3693)gaC>gaT	p.D1231D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1231					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGGTACGAGGTCCCTTTCAA	0.498													G|||	134	0.0267572	0.0938	0.013	5008	,	,		14013	0.0		0.001	False		,,,				2504	0.0				p.D1231D		Atlas-SNP	.											SPTA1,NS,carcinoma,-2,1	SPTA1	720	1	0			c.C3693T						PASS	.	G		250,3612		10,230,1691	115	116	115		3693	-0.7	0.4	1	dbSNP_126	115	5,8249		0,5,4122	yes	coding-synonymous	SPTA1	NM_003126.2		10,235,5813	AA,AG,GG		0.0606,6.4733,2.1047		1231/2420	158618320	255,11861	1931	4127	6058	SO:0001819	synonymous_variant	6708	exon26			TACGAGGTCCCTT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3693C>T	1.37:g.158618320G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	80	53	0.6625	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			G|0.988;A|0.012	0.012	strong		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158618320	G	A	158618320	2	1	22	1	0	0	0	0	0	0	0	1	15115	1252	44	2		2	SPTA1	1	158618320	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6084	158618320	90632301	749	5857										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158623092	158623092	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctgctcctggcgctgggTgatgtttcctggctcttctc	11	12	3	1	rs145054175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158623092T>A	ENST00000368147.4	-	22	3340	c.3160A>T	c.(3160-3162)Acc>Tcc	p.T1054S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1054					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGCGCTGGGTGATGTTTCCT	0.517													T|||	25	0.00499201	0.0182	0.0014	5008	,	,		15465	0.0		0.0	False		,,,				2504	0.0				p.T1054S		Atlas-SNP	.											SPTA1,NS,carcinoma,+1,1	SPTA1	720	1	0			c.A3160T						scavenged	.	T	SER/THR	56,3900		0,56,1922	118	122	120		3160	-1.3	0.2	1	dbSNP_134	120	0,8344		0,0,4172	yes	missense	SPTA1	NM_003126.2	58	0,56,6094	AA,AT,TT		0.0,1.4156,0.4553	benign	1054/2420	158623092	56,12244	1978	4172	6150	SO:0001583	missense	6708	exon22			GCTGGGTGATGTT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3160A>T	1.37:g.158623092T>A	ENSP00000357129:p.Thr1054Ser	Somatic	137	2	0.0145985		WXS	Illumina HiSeq	Phase_I	124	62	0.5	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	12.06	1.823290	0.32237	0.014156	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.65916	-0.18;-0.18	5.15	-1.33	0.09172	Src homology-3 domain (1);	2.011270	0.03053	N	0.154860	T	0.13457	0.0326	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.07790	-1.0754	10	0.10636	T	0.68	.	8.2403	0.31656	0.0:0.5787:0.1365:0.2848	.	1054	P02549	SPTA1_HUMAN	S	1054	ENSP00000357130:T1054S;ENSP00000357129:T1054S	ENSP00000357129:T1054S	T	-	1	0	SPTA1	156889716	0.008000	0.16893	0.150000	0.22450	0.671000	0.39405	0.091000	0.15046	-0.379000	0.07906	-1.139000	0.01908	ACC	T|0.996;A|0.004	0.004	strong		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158623092	T	A	158623092	3	1	22	1	0	0	0	0	1	0	0	0	15115	1696	59	5	4223	5	SPTA1	1	158623092	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4772	158623092	90627529	750	5858										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158623103	158623103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgctgggtgatgtttcctGgctcttctcgtcgccgctgt	14	12	2	1	rs116297260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158623103G>A	ENST00000368147.4	-	22	3329	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1050					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATGTTTCCTGGCTCTTCTCG	0.532													G|||	40	0.00798722	0.0295	0.0014	5008	,	,		15095	0.0		0.0	False		,,,				2504	0.0				p.P1050L		Atlas-SNP	.											.	SPTA1	720	.	0			c.C3149T						PASS	.	G	LEU/PRO	81,3859		0,81,1889	116	119	118		3149	3.3	0.9	1	dbSNP_132	118	0,8370		0,0,4185	yes	missense	SPTA1	NM_003126.2	98	0,81,6074	AA,AG,GG		0.0,2.0558,0.658	benign	1050/2420	158623103	81,12229	1970	4185	6155	SO:0001583	missense	6708	exon22			TTTCCTGGCTCTT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3149C>T	1.37:g.158623103G>A	ENSP00000357129:p.Pro1050Leu	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	130	65	0.5	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	11.31	1.600501	0.28534	0.020558	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.31510	1.49;1.49	5.15	3.28	0.37604	Src homology-3 domain (1);	0.273133	0.19703	N	0.107990	T	0.06962	0.0177	N	0.22421	0.69	0.47123	D	0.999327	B	0.11235	0.004	B	0.10450	0.005	T	0.12863	-1.0531	10	0.28530	T	0.3	.	4.5022	0.11869	0.1722:0.0:0.5672:0.2606	.	1050	P02549	SPTA1_HUMAN	L	1050	ENSP00000357130:P1050L;ENSP00000357129:P1050L	ENSP00000357129:P1050L	P	-	2	0	SPTA1	156889727	1.000000	0.71417	0.878000	0.34440	0.726000	0.41606	4.176000	0.58269	0.762000	0.33152	0.655000	0.94253	CCA	G|0.995;A|0.005	0.005	strong		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158623103	G	A	158623103	3	1	22	1	0	0	0	0	1	0	0	0	15115	1348	47	2	4234	2	SPTA1	1	158623103	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	158623103	90627518	751	5859										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158626378	158626378	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcgtttgcctgattccgCagagctttcatactgtctcc					rs857691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158626378C>T	ENST00000368147.4	-	20	3054	c.2874G>A	c.(2872-2874)ctG>ctA	p.L958L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	958					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGATTCCGCAGAGCTTTCA	0.398													T|||	2121	0.423522	0.7935	0.3588	5008	,	,		16600	0.4087		0.2495	False		,,,				2504	0.1636				p.L958L		Atlas-SNP	.											.	SPTA1	720	.	0			c.G2874A						PASS	.	T		2587,1125		905,777,174	167	171	170		2874	-9.1	0	1	dbSNP_86	170	2017,6169		273,1471,2349	no	coding-synonymous	SPTA1	NM_003126.2		1178,2248,2523	TT,TC,CC		24.6396,30.3071,38.6956		958/2420	158626378	4604,7294	1856	4093	5949	SO:0001819	synonymous_variant	6708	exon20			ATTCCGCAGAGCT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2874G>A	1.37:g.158626378C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			C|0.581;T|0.419	0.419	strong		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158626378	C	T	158626378	2	4	22	1	0	0	0	0	0	0	0	1	15115	697	25	2		2	SPTA1	1	158626378	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3275	158626378	90624243	752	5860	119	2								
SPTA1	6708	hgsc.bcm.edu	37	chr1	158626382	158626382	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtttgcctgattccgcagaGctttcatactgtctccaaat					rs34706737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158626382G>A	ENST00000368147.4	-	20	3050	c.2870C>T	c.(2869-2871)gCt>gTt	p.A957V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	957			A -> V (in dbSNP:rs34706737).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTCCGCAGAGCTTTCATACT	0.398													G|||	173	0.0345447	0.1248	0.0101	5008	,	,		16513	0.0		0.001	False		,,,				2504	0.0				p.A957V		Atlas-SNP	.											.	SPTA1	720	.	0			c.C2870T						PASS	.	G	VAL/ALA	340,3368		17,306,1531	170	174	173		2870	2.5	0	1	dbSNP_126	173	11,8171		0,11,4080	yes	missense	SPTA1	NM_003126.2	64	17,317,5611	AA,AG,GG		0.1344,9.1694,2.9521	possibly-damaging	957/2420	158626382	351,11539	1854	4091	5945	SO:0001583	missense	6708	exon20			CGCAGAGCTTTCA	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2870C>T	1.37:g.158626382G>A	ENSP00000357129:p.Ala957Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	30	0.416667	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	73	0.033424908424908424	69	0.1402439024390244	4	0.011049723756906077	0	0.0	0	0.0	G	16.62	3.174122	0.57692	0.091694	0.001344	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.5	2.53	0.30540	.	0.000000	0.32120	N	0.006555	T	0.42154	0.1190	M	0.66297	2.02	0.40998	D	0.9849	P	0.46952	0.887	P	0.53722	0.733	T	0.31943	-0.9925	10	0.39692	T	0.17	.	9.6117	0.39668	0.0:0.1322:0.4583:0.4095	rs34706737	957	P02549	SPTA1_HUMAN	V	957	ENSP00000357130:A957V;ENSP00000357129:A957V	ENSP00000357129:A957V	A	-	2	0	SPTA1	156893006	0.999000	0.42202	0.038000	0.18304	0.494000	0.33585	2.748000	0.47483	0.395000	0.25257	0.655000	0.94253	GCT	G|0.976;A|0.024	0.024	strong		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158626382	G	A	158626382	3	1	22	1	0	0	0	0	1	0	0	0	15115	971	34	2	4521	2	SPTA1	1	158626382	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	158626382	90624239	753	5861	119	2								
SPTA1	6708	hgsc.bcm.edu	37	chr1	158631106	158631106	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattttgtttcccctttctGttatctcttgaatgcgtggt	7	10	2	1	rs35121052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158631106G>C	ENST00000368147.4	-	18	2738	c.2558C>G	c.(2557-2559)aCa>aGa	p.T853R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	853			T -> R (in dbSNP:rs35121052).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCCCTTTCTGTTATCTCTTG	0.438													G|||	531	0.10603	0.382	0.0331	5008	,	,		17472	0.0		0.003	False		,,,				2504	0.0				p.T853R		Atlas-SNP	.											.	SPTA1	720	.	0			c.C2558G						PASS	.	G	ARG/THR	1121,2763		177,767,998	266	264	265		2558	3.9	1	1	dbSNP_126	265	21,8275		0,21,4127	yes	missense	SPTA1	NM_003126.2	71	177,788,5125	CC,CG,GG		0.2531,28.862,9.376	benign	853/2420	158631106	1142,11038	1942	4148	6090	SO:0001583	missense	6708	exon18			CTTTCTGTTATCT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2558C>G	1.37:g.158631106G>C	ENSP00000357129:p.Thr853Arg	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	338	165	0.488166	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	192	0.08791208791208792	181	0.3678861788617886	11	0.03038674033149171	0	0.0	0	0.0	G	16.67	3.187725	0.57909	0.28862	0.002531	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	4.81	3.9	0.45041	.	.	.	.	.	T	0.39145	0.1067	M	0.64997	1.995	0.23076	P	0.99833702	P	0.44659	0.84	P	0.51550	0.673	T	0.29243	-1.0018	8	0.18710	T	0.47	.	11.9273	0.52827	0.0851:0.0:0.9149:0.0	rs35121052;rs61126478	853	P02549	SPTA1_HUMAN	R	853	ENSP00000357130:T853R;ENSP00000357129:T853R	ENSP00000357129:T853R	T	-	2	0	SPTA1	156897730	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	5.076000	0.64413	1.249000	0.43950	0.650000	0.86243	ACA	G|0.933;C|0.067	0.067	strong		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158631106	G	C	158631106	3	2	22	1	0	0	0	0	1	0	0	0	15115	1377	48	4	4841	4	SPTA1	1	158631106	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4724	158631106	90619515	754	5862										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158632531	158632531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagggttcagtctcttggaTccaggcctcctcatcctctg	10	13	4	1	rs7547313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158632531T>C	ENST00000368147.4	-	17	2605	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	809			I -> V (in dbSNP:rs7547313).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTCTTGGATCCAGGCCTCC	0.502													T|||	516	0.103035	0.3707	0.0331	5008	,	,		16779	0.0		0.003	False		,,,				2504	0.0				p.I809V		Atlas-SNP	.											SPTA1,NS,carcinoma,+2,1	SPTA1	720	1	0			c.A2425G						PASS	.	T	VAL/ILE	1083,2813		165,753,1030	100	103	102		2425	4.3	1	1	dbSNP_116	102	19,8255		0,19,4118	yes	missense	SPTA1	NM_003126.2	29	165,772,5148	CC,CT,TT		0.2296,27.7977,9.0551	possibly-damaging	809/2420	158632531	1102,11068	1948	4137	6085	SO:0001583	missense	6708	exon17			CTTGGATCCAGGC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2425A>G	1.37:g.158632531T>C	ENSP00000357129:p.Ile809Val	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	205	104	0.507317	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	183	0.08379120879120878	172	0.34959349593495936	11	0.03038674033149171	0	0.0	0	0.0	T	21.0	4.080651	0.76528	0.277977	0.002296	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39787	1.06;1.06	4.28	4.28	0.50868	.	0.000000	0.32852	N	0.005568	T	0.40196	0.1107	L	0.37466	1.105	0.22531	P	0.999012003	D	0.76494	0.999	D	0.91635	0.999	T	0.38824	-0.9643	9	0.44086	T	0.13	.	10.915	0.47131	0.0:0.0:0.0:1.0	rs7547313;rs7547313	809	P02549	SPTA1_HUMAN	V	809	ENSP00000357130:I809V;ENSP00000357129:I809V	ENSP00000357129:I809V	I	-	1	0	SPTA1	156899155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.011000	0.76359	1.786000	0.52430	0.460000	0.39030	ATC	T|0.946;C|0.054	0.054	strong		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158632531	T	C	158632531	3	2	22	1	0	0	0	0	1	0	0	0	15115	1435	50	2	4978	2	SPTA1	1	158632531	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1425	158632531	90618090	755	5863										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158647522	158647522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctctcaagtcccttgtgActgtgaaacagtccttcaga	7	11	3	3	rs703121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158647522A>G	ENST00000368147.4	-	7	1095	c.915T>C	c.(913-915)agT>agC	p.S305S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	305					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCCTTGTGACTGTGAAACA	0.463													A|||	2273	0.453874	0.2262	0.5058	5008	,	,		19106	0.5833		0.6153	False		,,,				2504	0.4254				p.S305S		Atlas-SNP	.											.	SPTA1	720	.	0			c.T915C						PASS	.	A		1077,2837		152,773,1032	98	91	93		915	2.3	1	1	dbSNP_86	93	4759,3543		1358,2043,750	no	coding-synonymous	SPTA1	NM_003126.2		1510,2816,1782	GG,GA,AA		42.6765,27.5166,47.7734		305/2420	158647522	5836,6380	1957	4151	6108	SO:0001819	synonymous_variant	6708	exon7			CTTGTGACTGTGA	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.915T>C	1.37:g.158647522A>G		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	213	96	0.450704	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			A|0.498;G|0.502	0.502	strong		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158647522	A	G	158647522	2	3	22	1	0	0	0	0	0	0	0	1	15115	272	10	2		2	SPTA1	1	158647522	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14991	158647522	90603099	756	5864										
OR6K2	81448	hgsc.bcm.edu	37	chr1	158669980	158669980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggcaatctcaggaagggGtgtgataaagccacaaacac	11	10	1	1	rs111363268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158669980G>A	ENST00000359610.2	-	1	506	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCAGGAAGGGGTGTGATAAAG	0.488													G|||	119	0.023762	0.0847	0.0086	5008	,	,		23707	0.0		0.001	False		,,,				2504	0.0				p.P155S		Atlas-SNP	.											OR6K2,right_upper_lobe,carcinoma,+2,1	OR6K2	104	1	0			c.C463T						PASS	.	G	SER/PRO	340,4066	178.7+/-207.4	12,316,1875	123	107	113		463	3.9	0.1	1	dbSNP_132	113	2,8598	1.2+/-3.3	0,2,4298	yes	missense	OR6K2	NM_001005279.1	74	12,318,6173	AA,AG,GG		0.0233,7.7167,2.6296	possibly-damaging	155/325	158669980	342,12664	2203	4300	6503	SO:0001583	missense	81448	exon1			GAAGGGGTGTGAT	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.463C>T	1.37:g.158669980G>A	ENSP00000352626:p.Pro155Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_001005279	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	37	0.01694139194139194	36	0.07317073170731707	1	0.0027624309392265192	0	0.0	0	0.0	G	10.46	1.356369	0.24598	0.077167	2.33E-4	ENSG00000196171	ENST00000359610	T	0.29142	1.58	4.84	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	N	0.001874	T	0.06050	0.0157	N	0.00879	-1.12	0.09310	N	1	D	0.56035	0.974	P	0.60236	0.871	T	0.03807	-1.1002	10	0.18710	T	0.47	-12.7456	3.6905	0.08344	0.0886:0.1687:0.5679:0.1749	.	155	Q8NGY2	OR6K2_HUMAN	S	155	ENSP00000352626:P155S	ENSP00000352626:P155S	P	-	1	0	OR6K2	156936604	0.000000	0.05858	0.145000	0.22337	0.977000	0.68977	-0.103000	0.10940	1.232000	0.43678	0.650000	0.86243	CCC	G|0.977;A|0.023	0.023	strong		0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		A	158669980	G	A	158669980	3	1	22	1	0	0	0	0	1	0	0	0	11202	1261	44	2	515	2	OR6K2	1	158669980	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22458	158669980	90580641	757	5865										
OR6K3	391114	hgsc.bcm.edu	37	chr1	158687163	158687163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacactgccaaagaatatcGggaagaccatgaggtggcct	11	9	0	3	rs28568406	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158687163G>A	ENST00000368146.1	-	1	790	c.791C>T	c.(790-792)cCg>cTg	p.P264L	OR6K3_ENST00000368145.1_Missense_Mutation_p.P248L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	264			P -> L (in dbSNP:rs28568406). {ECO:0000269|PubMed:14983052}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAAGAATATCGGGAAGACCAT	0.453													A|||	1948	0.388978	0.4773	0.4323	5008	,	,		22981	0.4474		0.3966	False		,,,				2504	0.1708				p.P248L		Atlas-SNP	.											.	OR6K3	101	.	0			c.C743T						PASS	.	A	LEU/PRO	2096,2310	603.5+/-390.1	496,1104,603	131	112	118		743	3.8	0	1	dbSNP_125	118	3256,5344	649.7+/-400.6	613,2030,1657	yes	missense	OR6K3	NM_001005327.2	98	1109,3134,2260	AA,AG,GG		37.8605,47.5715,41.1502	benign	248/316	158687163	5352,7654	2203	4300	6503	SO:0001583	missense	391114	exon1			AATATCGGGAAGA	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.791C>T	1.37:g.158687163G>A	ENSP00000357128:p.Pro264Leu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	132	0.985075	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		913	0.41804029304029305	225	0.4573170731707317	152	0.4198895027624309	238	0.4160839160839161	298	0.39313984168865435	A	1.380	-0.583678	0.03827	0.475715	0.378605	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.32988	1.43;1.43	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	N	0.00022	-2.74	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.43196	-0.9406	8	0.07325	T	0.83	.	8.466	0.32956	0.9021:0.0:0.0979:0.0	rs28568406;rs52822126;rs57495154	264	Q8NGY3	OR6K3_HUMAN	L	248;264	ENSP00000357127:P248L;ENSP00000357128:P264L	ENSP00000357127:P248L	P	-	2	0	OR6K3	156953787	0.000000	0.05858	0.001000	0.08648	0.446000	0.32137	0.037000	0.13840	0.606000	0.29965	-0.516000	0.04426	CCG	G|0.585;A|0.415	0.415	strong		0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				A	158687163	G	A	158687163	3	1	22	1	0	0	0	0	1	0	0	0	11203	1116	39	1	206	1	OR6K3	1	158687163	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17183	158687163	90563458	758	5866										
OR6K3	391114	hgsc.bcm.edu	37	chr1	158687224	158687224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcctcccttcagaagaggGaatcctcaatatcacagtga	8	11	3	3	rs857703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158687224G>A	ENST00000368146.1	-	1	729	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	OR6K3_ENST00000368145.1_Missense_Mutation_p.P228S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	244			P -> S (in dbSNP:rs857703). {ECO:0000269|PubMed:14983052}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P244S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCAGAAGAGGGAATCCTCAAT	0.438													G|||	1404	0.280351	0.09	0.389	5008	,	,		23447	0.4474		0.3946	False		,,,				2504	0.1708				p.P228S		Atlas-SNP	.											OR6K3,NS,carcinoma,0,1	OR6K3	101	1	1	Substitution - Missense(1)	stomach(1)	c.C682T						PASS	.	G	SER/PRO	589,3817	259.5+/-263.1	47,495,1661	107	96	100		682	0.8	0	1	dbSNP_86	100	3247,5353	487.5+/-372.1	610,2027,1663	yes	missense	OR6K3	NM_001005327.2	74	657,2522,3324	AA,AG,GG		37.7558,13.3681,29.4941	benign	228/316	158687224	3836,9170	2203	4300	6503	SO:0001583	missense	391114	exon1			AAGAGGGAATCCT	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.730C>T	1.37:g.158687224G>A	ENSP00000357128:p.Pro244Ser	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	112	52	0.464286	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		732	0.33516483516483514	56	0.11382113821138211	140	0.3867403314917127	238	0.4160839160839161	298	0.39313984168865435	G	13.46	2.243764	0.39697	0.133681	0.377558	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.36878	1.23;1.23	3.77	0.813	0.18749	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12987	0.0315	L	0.45137	1.4	0.80722	P	0.0	B	0.23128	0.08	B	0.24006	0.05	T	0.10776	-1.0615	8	0.48119	T	0.1	.	7.9959	0.30267	0.2855:0.0:0.7145:0.0	rs857703;rs52791601;rs56909898;rs857703	244	Q8NGY3	OR6K3_HUMAN	S	228;244	ENSP00000357127:P228S;ENSP00000357128:P244S	ENSP00000357127:P228S	P	-	1	0	OR6K3	156953848	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-0.113000	0.10774	0.055000	0.16094	0.467000	0.42956	CCC	G|0.696;A|0.304	0.304	strong		0.438	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				A	158687224	G	A	158687224	3	1	22	1	0	0	0	0	1	0	0	0	11203	1174	41	2	267	2	OR6K3	1	158687224	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61	158687224	90563397	759	5867										
OR6K6	128371	hgsc.bcm.edu	37	chr1	158725080	158725080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagctatctgcaatccactcCgttacccaaccatcatgatt	4	14	2	1	rs16841001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158725080C>T	ENST00000368144.2	+	1	571	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	159			R -> C (in dbSNP:rs16841001).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CAATCCACTCCGTTACCCAAC	0.468													C|||	518	0.103435	0.0431	0.1095	5008	,	,		24956	0.1667		0.1541	False		,,,				2504	0.0634				p.R159C		Atlas-SNP	.											.	OR6K6	81	.	0			c.C475T						PASS	.	C	CYS/ARG	249,4157	143.8+/-178.8	8,233,1962	131	109	116		475	5.5	1	1	dbSNP_123	116	1132,7468	233.7+/-266.9	80,972,3248	yes	missense	OR6K6	NM_001005184.1	180	88,1205,5210	TT,TC,CC		13.1628,5.6514,10.6182	benign	159/344	158725080	1381,11625	2203	4300	6503	SO:0001583	missense	128371	exon1			CCACTCCGTTACC	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.475C>T	1.37:g.158725080C>T	ENSP00000357126:p.Arg159Cys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	154	87	0.564935	NM_001005184	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	CCDS30904.1	282	0.12912087912087913	23	0.046747967479674794	37	0.10220994475138122	100	0.17482517482517482	122	0.16094986807387862	C	14.81	2.646762	0.47258	0.056514	0.131628	ENSG00000180433	ENST00000368144	T	0.02280	4.36	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.319150	0.22869	N	0.054656	T	0.01976	0.0062	M	0.62209	1.925	0.21762	P	0.999551967	B	0.32507	0.373	B	0.26094	0.066	T	0.45673	-0.9245	9	0.56958	D	0.05	-2.2299	18.27	0.90065	0.0:1.0:0.0:0.0	rs16841001;rs52808207;rs16841001	159	Q8NGW6	OR6K6_HUMAN	C	159	ENSP00000357126:R159C	ENSP00000357126:R159C	R	+	1	0	OR6K6	156991704	0.706000	0.27856	1.000000	0.80357	0.782000	0.44232	2.968000	0.49224	2.848000	0.98002	0.655000	0.94253	CGT	C|0.885;T|0.115	0.115	strong		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		T	158725080	C	T	158725080	3	4	22	1	0	0	0	0	1	0	0	0	11204	652	23	1	477	1	OR6K6	1	158725080	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37856	158725080	90525541	760	5868										
OR6N2	81442	hgsc.bcm.edu	37	chr1	158746678	158746678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgatgctcccaaagaagaTgaggaccacagcaagatgtg	12	8	0	5	rs41273541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158746678T>C	ENST00000339258.1	-	1	747	c.748A>G	c.(748-750)Atc>Gtc	p.I250V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	250			I -> V (in dbSNP:rs41273541).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCAAAGAAGATGAGGACCACA	0.453													C|||	879	0.175519	0.2345	0.0288	5008	,	,		22440	0.1925		0.0437	False		,,,				2504	0.318				p.I250V		Atlas-SNP	.											.	OR6N2	78	.	0			c.A748G						PASS	.	C	VAL/ILE	824,3582	748.0+/-411.9	72,680,1451	85	84	85		748	1.2	1	1	dbSNP_127	85	401,8199	801.3+/-407.4	11,379,3910	yes	missense	OR6N2	NM_001005278.1	29	83,1059,5361	CC,CT,TT		4.6628,18.7018,9.4187	benign	250/318	158746678	1225,11781	2203	4300	6503	SO:0001583	missense	81442	exon1			AGAAGATGAGGAC	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.748A>G	1.37:g.158746678T>C	ENSP00000344101:p.Ile250Val	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	164	160	0.97561	NM_001005278	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	251	0.11492673992673992	104	0.21138211382113822	14	0.03867403314917127	101	0.17657342657342656	32	0.04221635883905013	C	2.754	-0.259368	0.05791	0.187018	0.046628	ENSG00000188340	ENST00000339258	T	0.00107	8.72	4.84	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.415403	0.17630	N	0.167403	T	0.00039	0.0001	L	0.41632	1.29	0.80722	P	0.0	B	0.11235	0.004	B	0.15870	0.014	T	0.08617	-1.0713	9	0.45353	T	0.12	-6.3668	9.9249	0.41485	0.0:0.232:0.0:0.768	rs41273541	250	Q8NGY6	OR6N2_HUMAN	V	250	ENSP00000344101:I250V	ENSP00000344101:I250V	I	-	1	0	OR6N2	157013302	0.000000	0.05858	0.972000	0.41901	0.304000	0.27724	-3.517000	0.00444	-0.189000	0.10482	-2.069000	0.00389	ATC	T|0.900;C|0.100	0.100	strong		0.453	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			C	158746678	T	C	158746678	3	2	22	1	0	0	0	0	1	0	0	0	11207	1464	51	2	208	2	OR6N2	1	158746678	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21598	158746678	90503943	761	5869										
OR6N2	81442	hgsc.bcm.edu	37	chr1	158746847	158746847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtccaccagaatgttagcAgatgtgtccttgcaggccaa	10	10	0	2	rs16841094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:158746847A>G	ENST00000339258.1	-	1	578	c.579T>C	c.(577-579)tcT>tcC	p.S193S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAATGTTAGCAGATGTGTCCT	0.418													G|||	942	0.188099	0.2254	0.0548	5008	,	,		24908	0.1925		0.0746	False		,,,				2504	0.3446				p.S193S		Atlas-SNP	.											.	OR6N2	78	.	0			c.T579C						PASS	.	G		807,3599	749.0+/-412.0	69,669,1465	48	47	47		579	-0.3	0.5	1	dbSNP_123	47	605,7995	791.7+/-407.5	28,549,3723	no	coding-synonymous	OR6N2	NM_001005278.1		97,1218,5188	GG,GA,AA		7.0349,18.3159,10.8565		193/318	158746847	1412,11594	2203	4300	6503	SO:0001819	synonymous_variant	81442	exon1			GTTAGCAGATGTG	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.579T>C	1.37:g.158746847A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_001005278	Q6IFR2	Silent	SNP	ENST00000339258.1	37	CCDS30906.1																																																																																			A|0.870;G|0.130	0.130	strong		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			G	158746847	A	G	158746847	2	3	22	1	0	0	0	0	0	0	0	1	11207	175	7	3		3	OR6N2	1	158746847	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	169	158746847	90503774	762	5870										
IFI16	3428	hgsc.bcm.edu	37	chr1	159024668	159024668	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctgattcaagtatggaaActtcaccagactttttcttc	5	10	3	2	rs6940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159024668A>T	ENST00000295809.7	+	12	2590	c.2335A>T	c.(2335-2337)Act>Tct	p.T779S	IFI16_ENST00000340979.6_Missense_Mutation_p.T667S|IFI16_ENST00000448393.2_Missense_Mutation_p.T667S|IFI16_ENST00000430894.2_Missense_Mutation_p.T727S|IFI16_ENST00000368131.4_Missense_Mutation_p.T723S|IFI16_ENST00000359709.3_Missense_Mutation_p.T723S|IFI16_ENST00000368132.3_Missense_Mutation_p.T723S			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	779			T -> S (in dbSNP:rs6940).		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AAGTATGGAAACTTCACCAGA	0.363													A|||	1131	0.225839	0.2595	0.062	5008	,	,		18370	0.3482		0.1193	False		,,,				2504	0.2802				p.T723S		Atlas-SNP	.											.	IFI16	111	.	0			c.A2167T						PASS	.	A	SER/THR,SER/THR	1018,3388	359.6+/-314.9	138,742,1323	105	98	100		2167,2167	3.5	0	1	dbSNP_52	100	1136,7464	226.1+/-261.9	71,994,3235	yes	missense,missense	IFI16	NM_001206567.1,NM_005531.2	58,58	209,1736,4558	TT,TA,AA		13.2093,23.1049,16.5616	possibly-damaging,possibly-damaging	723/730,723/730	159024668	2154,10852	2203	4300	6503	SO:0001583	missense	3428	exon11			ATGGAAACTTCAC	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2335A>T	1.37:g.159024668A>T	ENSP00000295809:p.Thr779Ser	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	298	297	0.996644	NM_001206567	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		403|403	0.18452380952380953|0.18452380952380953	146|146	0.2967479674796748|0.2967479674796748	21|21	0.058011049723756904|0.058011049723756904	150|150	0.26223776223776224|0.26223776223776224	86|86	0.11345646437994723|0.11345646437994723	A|A	15.88|15.88	2.964063|2.964063	0.53507|0.53507	0.231049|0.231049	0.132093|0.132093	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.04406	.|3.63;3.65;3.65;3.65;3.64	3.51|3.51	3.51|3.51	0.40186|0.40186	.|.	.|.	.|.	.|.	.|.	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	P|P	0.0|0.0	.|D;D;D	.|0.89917	.|0.958;1.0;1.0	.|P;D;D	.|0.83275	.|0.622;0.996;0.996	T|T	0.48614|0.48614	-0.9020|-0.9020	4|8	.|0.15066	.|T	.|0.55	.|.	8.7275|8.7275	0.34478|0.34478	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs6940;rs1057076;rs2070268;rs3197685;rs3737524;rs52792467;rs6940|rs6940;rs1057076;rs2070268;rs3197685;rs3737524;rs52792467;rs6940	.|727;667;723	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	N|S	487|408;779;667;723;723;727	.|ENSP00000295809:T779S;ENSP00000342741:T667S;ENSP00000357113:T723S;ENSP00000357114:T723S;ENSP00000394935:T727S	.|ENSP00000295809:T779S	K|T	+|+	3|1	2|0	IFI16|IFI16	157291292|157291292	0.055000|0.055000	0.20627|0.20627	0.036000|0.036000	0.18154|0.18154	0.059000|0.059000	0.15707|0.15707	1.085000|1.085000	0.30840|0.30840	1.815000|1.815000	0.52974|0.52974	0.459000|0.459000	0.35465|0.35465	AAA|ACT	A|0.827;T|0.173	0.173	strong		0.363	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		T	159024668	A	T	159024668	3	4	22	1	0	0	0	0	1	0	0	0	7511	43	2	5	2205	5	IFI16	1	159024668	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	277821	159024668	90225953	763	5871										
DARC	2532	hgsc.bcm.edu	37	chr1	159175354	159175354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccagatggagactatgGtgccaacctggaagcagctg	12	11	0	2	rs12075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159175354G>A	ENST00000368122.2	+	2	804	c.125G>A	c.(124-126)gGt>gAt	p.G42D	DARC_ENST00000368121.2_Missense_Mutation_p.G44D|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.G42D	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		42			G -> D (antigen Fy(b); dbSNP:rs12075). {ECO:0000269|PubMed:7663520, ECO:0000269|PubMed:7705836, ECO:0000269|PubMed:8248172, ECO:0000269|PubMed:9731074, ECO:0000269|PubMed:9886340}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGAGACTATGGTGCCAACCTG	0.527													A|||	2707	0.540535	0.9811	0.5389	5008	,	,		20455	0.0774		0.6024	False		,,,				2504	0.3599				p.G44D		Atlas-SNP	.											.	DARC	76	.	0			c.G131A	GRCh37	CM950484	DARC	M	rs12075	PASS	.	A	ASP/GLY,ASP/GLY	4037,369	187.8+/-214.3	1849,339,15	95	87	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	131,125	-1.1	0	1	dbSNP_52	90	4967,3633	523.8+/-380.4	1441,2085,774	yes	missense,missense	DARC	NM_001122951.2,NM_002036.3	94,94	3290,2424,789	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	42.2442,8.3749,30.7704	benign,benign	44/339,42/337	159175354	9004,4002	2203	4300	6503	SO:0001583	missense	2532	exon1			ACTATGGTGCCAA																												ENST00000368122.2:c.125G>A	1.37:g.159175354G>A	ENSP00000357104:p.Gly42Asp	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	201	201	1	NM_001122951	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	CCDS1183.1	1176	0.5384615384615384	474	0.9634146341463414	209	0.5773480662983426	47	0.08216783216783216	446	0.5883905013192612	A	0.168	-1.074849	0.01903	0.916251	0.577558	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.22336	4.47;4.47;1.96;4.46	4.36	-1.07	0.09968	.	.	.	.	.	T	0.01287	0.0042	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42396	-0.9454	8	0.02654	T	1	-10.5139	3.1012	0.06327	0.4283:0.0:0.1875:0.3841	rs12075;rs3171130;rs61460694;rs12075	44;42	Q5Y7A1;Q16570	.;DUFFY_HUMAN	D	42;42;42;44;44	ENSP00000357104:G42D;ENSP00000441985:G42D;ENSP00000398406:G44D;ENSP00000357103:G44D	ENSP00000352341:G42D	G	+	2	0	DARC	157441978	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.283000	0.18846	-0.484000	0.06763	-0.361000	0.07541	GGT	G|0.393;A|0.607	0.607	strong		0.527	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			A	159175354	G	A	159175354	3	1	22	1	0	0	0	0	1	0	0	0	4240	1261	44	2	158	2	DARC	1	159175354	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	150686	159175354	90075267	764	5872										
OR10J3	441911	hgsc.bcm.edu	37	chr1	159283746	159283746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggcaaaggccttcttcTgaccttcagctgaggcaatc	11	11	3	2	rs11265165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159283746T>C	ENST00000332217.5	-	1	703	c.704A>G	c.(703-705)cAg>cGg	p.Q235R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	235			Q -> R (in dbSNP:rs11265165).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGCCTTCTTCTGACCTTCAGC	0.517													C|||	981	0.195887	0.1793	0.1326	5008	,	,		22333	0.4236		0.0964	False		,,,				2504	0.1309				p.Q235R		Atlas-SNP	.											OR10J3,NS,carcinoma,+1,1	OR10J3	86	1	0			c.A704G						PASS	.	C	ARG/GLN	670,3736	763.6+/-413.2	48,574,1581	154	133	140		704	4.4	0.1	1	dbSNP_120	140	675,7925	788.9+/-407.6	31,613,3656	yes	missense	OR10J3	NM_001004467.1	43	79,1187,5237	CC,CT,TT		7.8488,15.2065,10.3414	benign	235/330	159283746	1345,11661	2203	4300	6503	SO:0001583	missense	441911	exon1			TTCTTCTGACCTT		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.704A>G	1.37:g.159283746T>C	ENSP00000331789:p.Gln235Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	130	66	0.507692	NM_001004467		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	461	0.21108058608058608	108	0.21951219512195122	41	0.1132596685082873	245	0.42832167832167833	67	0.08839050131926121	C	0.007	-1.989593	0.00439	0.152065	0.078488	ENSG00000196266	ENST00000332217	T	0.00011	9.35	5.34	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.683552	0.10890	N	0.622781	T	0.00012	0.0000	N	0.00088	-2.19	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.08806	-1.0704	9	0.02654	T	1	.	10.2643	0.43445	0.0:0.8398:0.0:0.1602	rs11265165;rs52807905;rs60024036;rs11265165	235	Q5JRS4	O10J3_HUMAN	R	235	ENSP00000331789:Q235R	ENSP00000331789:Q235R	Q	-	2	0	OR10J3	157550370	0.000000	0.05858	0.086000	0.20670	0.392000	0.30506	-0.024000	0.12435	0.835000	0.34877	-0.119000	0.15052	CAG	T|0.843;C|0.157	0.157	strong		0.517	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			C	159283746	T	C	159283746	3	2	22	1	0	0	0	0	1	0	0	0	10911	1580	55	3	287	3	OR10J3	1	159283746	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	108392	159283746	89966875	765	5873										
FCRL6	343413	hgsc.bcm.edu	37	chr1	159778910	159778910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaccttgcaggacagggGccctcacccagaactctgca	9	17	2	1	rs72700615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159778910G>A	ENST00000368106.3	+	4	480	c.479G>A	c.(478-480)gGc>gAc	p.G160D	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Missense_Mutation_p.G160D|FCRL6_ENST00000321935.6_Missense_Mutation_p.G167D	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	160	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAGGACAGGGGCCCTCACCCA	0.617													G|||	322	0.0642971	0.0371	0.085	5008	,	,		17807	0.0149		0.1392	False		,,,				2504	0.0603				p.G160D		Atlas-SNP	.											.	FCRL6	61	.	0			c.G479A						PASS	.	G	ASP/GLY	259,4147	149.5+/-183.7	3,253,1947	59	61	61		479	-0.5	0	1	dbSNP_130	61	1116,7484	231.5+/-265.5	85,946,3269	no	missense	FCRL6	NM_001004310.2	94	88,1199,5216	AA,AG,GG		12.9767,5.8783,10.572	benign	160/435	159778910	1375,11631	2203	4300	6503	SO:0001583	missense	343413	exon4			ACAGGGGCCCTCA	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.479G>A	1.37:g.159778910G>A	ENSP00000357086:p.Gly160Asp	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	207	113	0.545894	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	179	0.08195970695970696	19	0.03861788617886179	46	0.1270718232044199	7	0.012237762237762238	107	0.14116094986807387	G	10.69	1.420661	0.25639	0.058783	0.129767	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	T;T;T	0.03468	3.92;3.92;3.92	4.64	-0.505	0.11993	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.988811	0.08200	N	0.982432	T	0.00815	0.0027	N	0.17723	0.515	0.80722	P	0.0	B;B;B	0.19331	0.005;0.035;0.023	B;B;B	0.20184	0.006;0.028;0.025	T	0.47873	-0.9083	9	0.45353	T	0.12	.	3.8829	0.09086	0.2746:0.3861:0.3393:0.0	.	160;160;167	Q6DN72-3;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	D	167;160;160	ENSP00000320625:G167D;ENSP00000340949:G160D;ENSP00000357086:G160D	ENSP00000320625:G167D	G	+	2	0	FCRL6	158045534	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.052000	0.14163	0.353000	0.24079	0.585000	0.79938	GGC	G|0.901;A|0.099	0.099	strong		0.617	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		A	159778910	G	A	159778910	3	1	22	1	0	0	0	0	1	0	0	0	5799	1203	42	2	493	2	FCRL6	1	159778910	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	495164	159778910	89471711	766	5874										
FCRL6	343413	hgsc.bcm.edu	37	chr1	159778983	159778983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactggtgtgaggtggccccTgagggtggccaggtccagaa	17	9	0	3	rs12083967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159778983T>C	ENST00000368106.3	+	4	553	c.552T>C	c.(550-552)ccT>ccC	p.P184P	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Silent_p.P184P|FCRL6_ENST00000321935.6_Silent_p.P191P	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	184	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGTGGCCCCTGAGGGTGGCC	0.662													.|||	1360	0.271565	0.5265	0.2363	5008	,	,		18874	0.1855		0.1998	False		,,,				2504	0.1145				p.P184P		Atlas-SNP	.											.	FCRL6	61	.	0			c.T552C						PASS	.	T		2008,2396	508.6+/-367.0	478,1052,672	41	47	45		552	-2.9	0	1	dbSNP_120	45	1624,6976	284.4+/-296.6	161,1302,2837	no	coding-synonymous	FCRL6	NM_001004310.2		639,2354,3509	CC,CT,TT		18.8837,45.5949,27.9299		184/435	159778983	3632,9372	2202	4300	6502	SO:0001819	synonymous_variant	343413	exon4			GGCCCCTGAGGGT	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.552T>C	1.37:g.159778983T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	147	147	1	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	CCDS30912.1																																																																																			T|0.738;C|0.262	0.262	strong		0.662	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		C	159778983	T	C	159778983	2	2	22	1	0	0	0	0	0	0	0	1	5799	1567	55	3		3	FCRL6	1	159778983	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73	159778983	89471638	767	5875										
FCRL6	343413	hgsc.bcm.edu	37	chr1	159785370	159785370	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagatgcctgcagcccagTgaggtttcatccacggaggt	14	10	1	2	rs4301626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159785370T>C	ENST00000368106.3	+	10	1225	c.1224T>C	c.(1222-1224)agT>agC	p.S408S	FCRL6_ENST00000392235.3_Nonstop_Mutation_p.*312R|FCRL6_ENST00000339348.5_Nonstop_Mutation_p.*398R|FCRL6_ENST00000321935.6_Nonstop_Mutation_p.*414R	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	408						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S408S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGCAGCCCAGTGAGGTTTCAT	0.507													.|||	960	0.191693	0.4402	0.1499	5008	,	,		21238	0.1567		0.0616	False		,,,				2504	0.0552				p.S408S		Atlas-SNP	.											FCRL6,NS,carcinoma,0,1	FCRL6	61	1	1	Substitution - coding silent(1)	stomach(1)	c.T1224C						PASS	.	T		1752,2654	523.1+/-371.0	357,1038,808	126	125	125		1224	-5	0	1	dbSNP_111	125	525,8075	147.7+/-203.1	13,499,3788	no	coding-synonymous	FCRL6	NM_001004310.2		370,1537,4596	CC,CT,TT		6.1047,39.764,17.5073		408/435	159785370	2277,10729	2203	4300	6503	SO:0001819	synonymous_variant	343413	exon10			GCCCAGTGAGGTT	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1224T>C	1.37:g.159785370T>C		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	CCDS30912.1	385	0.1762820512820513	196	0.3983739837398374	47	0.1298342541436464	105	0.18356643356643357	37	0.048812664907651716	T	4.474	0.087809	0.08583	0.39764	0.061047	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235	.	.	.	3.87	-5.04	0.02964	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2691	0.00229	0.2818:0.1849:0.2881:0.2452	rs4301626;rs57602564;rs4301626	.	.	.	R	414;398;312	.	.	X	+	1	0	FCRL6	158051994	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.351000	0.07711	-1.064000	0.03172	0.402000	0.26972	TGA	T|0.814;C|0.186	0.186	strong		0.507	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		C	159785370	T	C	159785370	2	2	22	1	0	0	0	0	0	0	0	1	5799	1693	59	2		2	FCRL6	1	159785370	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6387	159785370	89465251	768	5876										
FCRL6	343413	hgsc.bcm.edu	37	chr1	159785425	159785425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactctccaagaaccccttAgcgactgtgaggaggttctc	11	12	2	2	rs4443889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159785425A>G	ENST00000368106.3	+	10	1280	c.1279A>G	c.(1279-1281)Agc>Ggc	p.S427G	FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	427			S -> G (in dbSNP:rs4443889).			external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S427G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAACCCCTTAGCGACTGTGA	0.547													.|||	1268	0.253195	0.4622	0.2334	5008	,	,		19157	0.1716		0.2018	False		,,,				2504	0.1217				p.S427G		Atlas-SNP	.											FCRL6,NS,carcinoma,0,1	FCRL6	61	1	1	Substitution - Missense(1)	stomach(1)	c.A1279G						PASS	.	G	GLY/SER	1921,2485	624.3+/-394.3	426,1069,708	87	88	88		1279	2	0	1	dbSNP_111	88	1704,6896	737.8+/-407.0	168,1368,2764	yes	missense	FCRL6	NM_001004310.2	56	594,2437,3472	GG,GA,AA		19.814,43.5996,27.8718	benign	427/435	159785425	3625,9381	2203	4300	6503	SO:0001583	missense	343413	exon10			CCCCTTAGCGACT	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1279A>G	1.37:g.159785425A>G	ENSP00000357086:p.Ser427Gly	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	556	0.25457875457875456	207	0.42073170731707316	92	0.2541436464088398	112	0.1958041958041958	145	0.19129287598944592	G	0.023	-1.396496	0.01175	0.435996	0.19814	ENSG00000181036	ENST00000368106	T	0.01221	5.15	3.87	2.01	0.26516	.	.	.	.	.	T	0.00210	0.0006	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33752	-0.9856	8	0.02654	T	1	.	6.1235	0.20165	0.3226:0.0:0.6774:0.0	rs4443889;rs59806834;rs4443889	427	Q6DN72	FCRL6_HUMAN	G	427	ENSP00000357086:S427G	ENSP00000357086:S427G	S	+	1	0	FCRL6	158052049	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.391000	0.20784	0.244000	0.21351	-0.320000	0.08662	AGC	A|0.725;G|0.275	0.275	strong		0.547	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		G	159785425	A	G	159785425	3	3	22	1	0	0	0	0	1	0	0	0	5799	420	15	3	1317	3	FCRL6	1	159785425	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55	159785425	89465196	769	5877										
IGSF9	57549	hgsc.bcm.edu	37	chr1	159898437	159898437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacctggcaagggactgGgtggggctgctggagggggt	22	7	0	0	rs35574000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159898437G>A	ENST00000368094.1	-	19	2938	c.2741C>T	c.(2740-2742)cCc>cTc	p.P914L	IGSF9_ENST00000361509.3_Missense_Mutation_p.P898L|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	914	Pro-rich.		P -> L (in dbSNP:rs35574000).		dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGGGACTGGGTGGGGCTGC	0.657													G|||	74	0.0147764	0.0522	0.0072	5008	,	,		14684	0.0		0.0	False		,,,				2504	0.0				p.P914L		Atlas-SNP	.											.	IGSF9	123	.	0			c.C2741T						PASS	.	G	LEU/PRO,LEU/PRO	267,4113		7,253,1930	9	9	9		2741,2693	4.6	0.1	1	dbSNP_126	9	4,8536		0,4,4266	yes	missense,missense	IGSF9	NM_001135050.1,NM_020789.3	98,98	7,257,6196	AA,AG,GG		0.0468,6.0959,2.0975	probably-damaging,probably-damaging	914/1180,898/1164	159898437	271,12649	2190	4270	6460	SO:0001583	missense	57549	exon19			GGACTGGGTGGGG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2741C>T	1.37:g.159898437G>A	ENSP00000357073:p.Pro914Leu	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	104	56	0.538462	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	G	14.74	2.625456	0.46840	0.060959	4.68E-4	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.66815	-0.23;-0.14	4.63	4.63	0.57726	.	0.000000	0.37906	N	0.001887	T	0.58694	0.2140	N	0.24115	0.695	0.21697	N	0.999586	D;B	0.89917	1.0;0.19	D;B	0.83275	0.996;0.081	T	0.53704	-0.8401	9	.	.	.	-10.2414	12.8357	0.57771	0.0:0.0:1.0:0.0	rs35574000	914;452	Q9P2J2;C9JI81	TUTLA_HUMAN;.	L	898;914;452	ENSP00000355049:P898L;ENSP00000357073:P914L	.	P	-	2	0	IGSF9	158165061	0.579000	0.26725	0.117000	0.21633	0.543000	0.35085	4.142000	0.58044	2.378000	0.81104	0.655000	0.94253	CCC	G|0.987;A|0.013	0.013	strong		0.657	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		A	159898437	G	A	159898437	3	1	22	1	0	0	0	0	1	0	0	0	7605	1232	43	2	810	2	IGSF9	1	159898437	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113012	159898437	89352184	770	5878										
IGSF9	57549	hgsc.bcm.edu	37	chr1	159900655	159900655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcattcggtcaggacgcttgGccctgggagacatgaggaca	15	10	1	2	rs140306211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:159900655G>A	ENST00000368094.1	-	14	1837	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A531V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	547	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGACGCTTGGCCCTGGGAGA	0.617													G|||	17	0.00339457	0.0129	0.0	5008	,	,		19874	0.0		0.0	False		,,,				2504	0.0				p.A547V		Atlas-SNP	.											.	IGSF9	123	.	0			c.C1640T						PASS	.	G	VAL/ALA,VAL/ALA	78,4328	67.0+/-104.6	0,78,2125	34	35	35		1640,1592	4.7	1	1	dbSNP_134	35	0,8600		0,0,4300	yes	missense,missense	IGSF9	NM_001135050.1,NM_020789.3	64,64	0,78,6425	AA,AG,GG		0.0,1.7703,0.5997	benign,benign	547/1180,531/1164	159900655	78,12928	2203	4300	6503	SO:0001583	missense	57549	exon14			CGCTTGGCCCTGG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1640C>T	1.37:g.159900655G>A	ENSP00000357073:p.Ala547Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	146	71	0.486301	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	8.888	0.953376	0.18431	0.017703	0.0	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.56776	0.44;0.44	4.65	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165414	0.28700	N	0.014421	T	0.13670	0.0331	N	0.05510	-0.035	0.33488	D	0.588349	B	0.13145	0.007	B	0.20384	0.029	T	0.10337	-1.0634	9	.	.	.	-14.7856	8.6122	0.33808	0.1024:0.0:0.8976:0.0	.	547	Q9P2J2	TUTLA_HUMAN	V	531;547	ENSP00000355049:A531V;ENSP00000357073:A547V	.	A	-	2	0	IGSF9	158167279	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.744000	0.55112	2.400000	0.81607	0.462000	0.41574	GCC	G|0.994;A|0.006	0.006	strong		0.617	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		A	159900655	G	A	159900655	3	1	22	1	0	0	0	0	1	0	0	0	7605	1203	42	2	1931	2	IGSF9	1	159900655	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2218	159900655	89349966	771	5879										
ATP1A2	477	hgsc.bcm.edu	37	chr1	160090993	160090993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccccaggatgaccacaaGctgtccttggatgagctggg	12	12	0	2	rs61734527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160090993G>A	ENST00000361216.3	+	3	218	c.129G>A	c.(127-129)aaG>aaA	p.K43K	ATP1A2_ENST00000392233.3_Silent_p.K43K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	43					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGACCACAAGCTGTCCTTGG	0.537													G|||	33	0.00658946	0.0242	0.0014	5008	,	,		21718	0.0		0.0	False		,,,				2504	0.0				p.K43K		Atlas-SNP	.											.	ATP1A2	167	.	0			c.G129A						PASS	.	G		122,4284	90.2+/-128.9	2,118,2083	229	232	231		129	3.7	1	1	dbSNP_129	231	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1A2	NM_000702.3		2,119,6382	AA,AG,GG		0.0116,2.769,0.9457		43/1021	160090993	123,12883	2203	4300	6503	SO:0001819	synonymous_variant	477	exon3			CCACAAGCTGTCC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.129G>A	1.37:g.160090993G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	77	29	0.376623	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1																																																																																			G|0.991;A|0.009	0.009	strong		0.537	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160090993	G	A	160090993	2	1	22	1	0	0	0	0	0	0	0	1	1129	962	34	2		2	ATP1A2	1	160090993	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190338	160090993	89159628	772	5880										
ATP1A2	477	hgsc.bcm.edu	37	chr1	160104950	160104950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagagaagccaaggcatgCgtggtgcacggctctgacct	13	12	1	2	rs61734529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160104950C>T	ENST00000361216.3	+	15	2069	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	ATP1A2_ENST00000392233.3_Silent_p.C660C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	660					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAAGGCATGCGTGGTGCACG	0.612													C|||	104	0.0207668	0.0779	0.0014	5008	,	,		22206	0.0		0.0	False		,,,				2504	0.0				p.C660C		Atlas-SNP	.											.	ATP1A2	167	.	0			c.C1980T						PASS	.	C		301,4105	164.0+/-195.7	10,281,1912	99	72	81		1980	-6.2	0.4	1	dbSNP_129	81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ATP1A2	NM_000702.3		10,283,6210	TT,TC,CC		0.0233,6.8316,2.3297		660/1021	160104950	303,12703	2203	4300	6503	SO:0001819	synonymous_variant	477	exon15			GGCATGCGTGGTG	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1980C>T	1.37:g.160104950C>T		Somatic	356	0	0		WXS	Illumina HiSeq	Phase_I	414	216	0.521739	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	34	0.015567765567765568	34	0.06910569105691057	0	0.0	0	0.0	0	0.0	C	9.163	1.019313	0.19355	0.068316	2.33E-4	ENSG00000018625	ENST00000447527	.	.	.	4.44	-6.19	0.02078	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60662	-0.7219	4	.	.	.	.	13.6226	0.62146	0.0:0.609:0.0:0.391	rs61734529	.	.	.	V	371	.	.	A	+	2	0	ATP1A2	158371574	0.002000	0.14202	0.400000	0.26346	0.942000	0.58702	-1.400000	0.02504	-1.346000	0.02211	0.511000	0.50034	GCG	C|0.978;T|0.022	0.022	strong		0.612	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160104950	C	T	160104950	2	4	22	1	0	0	0	0	0	0	0	1	1129	776	27	1		1	ATP1A2	1	160104950	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13957	160104950	89145671	773	5881										
ATP1A4	480	hgsc.bcm.edu	37	chr1	160129273	160129273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacccatgagaaccctctGgagacccgaaacatctgctt	7	14	3	2	rs61734686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160129273G>A	ENST00000368081.4	+	6	1206	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	245					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAACCCTCTGGAGACCCGAA	0.507													G|||	53	0.0105831	0.0401	0.0	5008	,	,		17615	0.0		0.0	False		,,,				2504	0.0				p.L245L		Atlas-SNP	.											.	ATP1A4	167	.	0			c.G735A						PASS	.	G		96,4310	77.3+/-115.6	3,90,2110	97	100	99		735	2.6	1	1	dbSNP_129	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1A4	NM_144699.3		3,91,6409	AA,AG,GG		0.0116,2.1788,0.7458		245/1030	160129273	97,12909	2203	4300	6503	SO:0001819	synonymous_variant	480	exon6			CCCTCTGGAGACC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.735G>A	1.37:g.160129273G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	150	72	0.48	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																			G|0.992;A|0.008	0.008	strong		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160129273	G	A	160129273	2	1	22	1	0	0	0	0	0	0	0	1	1131	1335	47	2		2	ATP1A4	1	160129273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24323	160129273	89121348	774	5882										
ATP1A4	480	hgsc.bcm.edu	37	chr1	160136350	160136350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacagccaagcgcatggcGcggaagaactgcctggtgaa	13	12	1	2	rs7529215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160136350G>A	ENST00000368081.4	+	8	1551	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	360					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGCATGGCGCGGAAGAACT	0.567													g|||	2345	0.468251	0.2806	0.5375	5008	,	,		19774	0.4851		0.5457	False		,,,				2504	0.5757				p.A360A		Atlas-SNP	.											.	ATP1A4	167	.	0			c.G1080A						PASS	.	A		1475,2931	473.1+/-356.6	267,941,995	88	79	82		1080	-8.6	0	1	dbSNP_116	82	4867,3733	618.0+/-396.7	1413,2041,846	no	coding-synonymous	ATP1A4	NM_144699.3		1680,2982,1841	AA,AG,GG		43.407,33.4771,48.7621		360/1030	160136350	6342,6664	2203	4300	6503	SO:0001819	synonymous_variant	480	exon8			CATGGCGCGGAAG	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1080G>A	1.37:g.160136350G>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	198	108	0.545455	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																			G|0.522;A|0.478	0.478	strong		0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160136350	G	A	160136350	2	1	22	1	0	0	0	0	0	0	0	1	1131	1074	38	1		1	ATP1A4	1	160136350	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7077	160136350	89114271	775	5883										
PEX19	5824	hgsc.bcm.edu	37	chr1	160253413	160253413	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagggtttggctttatcGaaatcatcaagagcaccttc	12	8	2	1	rs141911166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000608310.1_Intron|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	29	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18595	0.0		0.0	False		,,,				2504	0.0				p.F29F		Atlas-SNP	.											PEX19,NS,carcinoma,0,3	PEX19	34	3	0			c.C87T						PASS	.	G	,	5,4401	9.9+/-24.2	0,5,2198	81	75	77		87,87	1.1	1	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	29/280,29/300	160253413	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5824	exon2			TTTATCGAAATCA	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.87C>T	1.37:g.160253413G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	103	53	0.514563	NM_002857	D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	CCDS1201.1																																																																																			G|1.000;A|0.000	0.000	strong		0.532	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		A	160253413	G	A	160253413	2	1	22	1	0	0	0	0	0	0	0	1	11744	1049	37	1		1	PEX19	1	160253413	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117063	160253413	88997208	776	5884										
COPA	1314	hgsc.bcm.edu	37	chr1	160302298	160302298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatactaccaagtcttctgTggggtggaactgagcacaca	11	9	2	2	rs57425682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160302298T>C	ENST00000241704.7	-	6	665	c.436A>G	c.(436-438)Aca>Gca	p.T146A	COPA_ENST00000368069.3_Missense_Mutation_p.T146A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	146					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGTCTTCTGTGGGGTGGAAC	0.473													C|||	275	0.0549121	0.177	0.0202	5008	,	,		16356	0.0238		0.0	False		,,,				2504	0.0031				p.T146A		Atlas-SNP	.											.	COPA	181	.	0			c.A436G						PASS	.	C	ALA/THR,ALA/THR	633,3773	767.1+/-413.5	60,513,1630	132	118	123		436,436	3.9	1	1	dbSNP_129	123	8,8592	818.9+/-406.8	0,8,4292	yes	missense,missense	COPA	NM_001098398.1,NM_004371.3	58,58	60,521,5922	CC,CT,TT		0.093,14.3668,4.9285	benign,benign	146/1234,146/1225	160302298	641,12365	2203	4300	6503	SO:0001583	missense	1314	exon6			CTTCTGTGGGGTG	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.436A>G	1.37:g.160302298T>C	ENSP00000241704:p.Thr146Ala	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	50	29	0.58	NM_001098398	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	95	0.043498168498168496	66	0.13414634146341464	9	0.024861878453038673	20	0.03496503496503497	0	0.0	C	13.43	2.233892	0.39498	0.143668	9.3E-4	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.59906	0.23;0.23	5.05	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.119729	0.64402	N	0.000017	T	0.26340	0.0643	L	0.39020	1.185	0.42906	P	0.005758999999999959	B;B	0.06786	0.001;0.001	B;B	0.16289	0.012;0.015	T	0.05517	-1.0880	9	0.54805	T	0.06	-2.4504	7.7922	0.29127	0.7177:0.1453:0.0:0.137	rs57425682;rs61739741	146;146	P53621;P53621-2	COPA_HUMAN;.	A	146	ENSP00000357048:T146A;ENSP00000241704:T146A	ENSP00000241704:T146A	T	-	1	0	COPA	158568922	1.000000	0.71417	0.999000	0.59377	0.678000	0.39670	4.802000	0.62539	0.403000	0.25479	-1.641000	0.00772	ACA	T|0.956;C|0.044	0.044	strong		0.473	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		C	160302298	T	C	160302298	3	2	22	1	0	0	0	0	1	0	0	0	3727	1696	59	2	3377	2	COPA	1	160302298	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48885	160302298	88948323	777	5885										
ITLN1	55600	hgsc.bcm.edu	37	chr1	160853312	160853312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgaagtaagtattagcCtcatctagggaatacacagg	9	8	2	1	rs79969862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160853312C>T	ENST00000326245.3	-	3	178	c.63G>A	c.(61-63)gaG>gaA	p.E21E	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	21					positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTATTAGCCTCATCTAGGG	0.463													C|||	89	0.0177716	0.0461	0.0043	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.0256				p.E21E		Atlas-SNP	.											.	ITLN1	45	.	0			c.G63A						PASS	.	C		182,4224	117.1+/-155.0	5,172,2026	159	145	150		63	-3	0	1	dbSNP_132	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITLN1	NM_017625.2		5,173,6325	TT,TC,CC		0.0116,4.1307,1.407		21/314	160853312	183,12823	2203	4300	6503	SO:0001819	synonymous_variant	55600	exon3			ATTAGCCTCATCT	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.63G>A	1.37:g.160853312C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	149	61	0.409396	NM_017625	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	CCDS1211.1																																																																																			C|0.984;T|0.016	0.016	strong		0.463	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		T	160853312	C	T	160853312	2	4	22	1	0	0	0	0	0	0	0	1	7910	680	24	2		2	ITLN1	1	160853312	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	551014	160853312	88397309	778	5886										
ITLN1	55600	hgsc.bcm.edu	37	chr1	160854620	160854620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgactcacctgtactccaTcctctggtggtcgctatgag	10	13	2	2	rs35779394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:160854620T>C	ENST00000326245.3	-	2	163	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	16					positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTACTCCATCCTCTGGTGG	0.498													C|||	585	0.116813	0.2481	0.0303	5008	,	,		21689	0.0992		0.004	False		,,,				2504	0.135				p.G16G		Atlas-SNP	.											.	ITLN1	45	.	0			c.A48G						PASS	.	C		936,3470	737.1+/-410.8	95,746,1362	240	220	227		48	-1.5	0	1	dbSNP_126	227	64,8536	816.5+/-406.9	0,64,4236	no	coding-synonymous	ITLN1	NM_017625.2		95,810,5598	CC,CT,TT		0.7442,21.2438,7.6888		16/314	160854620	1000,12006	2203	4300	6503	SO:0001819	synonymous_variant	55600	exon2			ACTCCATCCTCTG	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.48A>G	1.37:g.160854620T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_017625	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	CCDS1211.1																																																																																			T|0.921;C|0.079	0.079	strong		0.498	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		C	160854620	T	C	160854620	2	2	22	1	0	0	0	0	0	0	0	1	7910	1422	50	2		2	ITLN1	1	160854620	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1308	160854620	88396001	779	5887										
ARHGAP30	257106	hgsc.bcm.edu	37	chr1	161022247	161022247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacccctgtcctcagcccccCgtggaagtttacgcttagtc	8	16	1	0	rs149524176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161022247C>T	ENST00000368013.3	-	8	1243	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R308Q|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R131Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	308					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCAGCCCCCCGTGGAAGTTT	0.537													C|||	4	0.000798722	0.003	0.0	5008	,	,		16986	0.0		0.0	False		,,,				2504	0.0				p.R308Q		Atlas-SNP	.											LOC257106,NS,carcinoma,-1,2	ARHGAP30	105	2	0			c.G923A						PASS	.	C	GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	198	211	207		923,923	3.8	0.5	1	dbSNP_134	207	0,8600		0,0,4300	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	308/1102,308/891	161022247	5,13001	2203	4300	6503	SO:0001583	missense	257106	exon8			GCCCCCCGTGGAA	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.923G>A	1.37:g.161022247C>T	ENSP00000356992:p.Arg308Gln	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	89	35	0.393258	NM_001025598	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429037	0.43122	0.001135	0.0	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.38401	2.84;2.76;1.14	4.72	3.77	0.43336	.	0.396100	0.21881	N	0.067728	T	0.28333	0.0700	L	0.56199	1.76	0.09310	N	1	D;D	0.65815	0.995;0.989	P;P	0.56788	0.716;0.806	T	0.11665	-1.0578	10	0.66056	D	0.02	.	5.6555	0.17640	0.2053:0.6933:0.0:0.1014	.	308;308	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	308;308;160;131	ENSP00000356995:R308Q;ENSP00000356992:R308Q;ENSP00000356994:R131Q	ENSP00000356992:R308Q	R	-	2	0	ARHGAP30	159288871	0.000000	0.05858	0.542000	0.28115	0.981000	0.71138	0.424000	0.21330	0.924000	0.37069	0.549000	0.68633	CGG	C|0.999;T|0.001	0.001	strong		0.537	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161022247	C	T	161022247	3	4	22	1	0	0	0	0	1	0	0	0	879	652	23	1	2402	1	ARHGAP30	1	161022247	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	167627	161022247	88228374	780	5888										
B4GALT3	8703	hgsc.bcm.edu	37	chr1	161141862	161141862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgtccaggaattctgggtaCggaccaggaggtcaaatctg	14	9	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161141862C>T	ENST00000319769.5	-	8	1148	c.926G>A	c.(925-927)cGt>cAt	p.R309H	B4GALT3_ENST00000367998.1_Missense_Mutation_p.R309H|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	309					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	ATTCTGGGTACGGACCAGGAG	0.502																																					p.R309H		Atlas-SNP	.											.	B4GALT3	39	.	0			c.G926A						PASS	.						73	77	76					1																	161141862		2203	4300	6503	SO:0001583	missense	8703	exon8			TGGGTACGGACCA	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.926G>A	1.37:g.161141862C>T	ENSP00000320965:p.Arg309His	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	89	43	0.483146	NM_003779	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940163	0.34283	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.35421	1.31;1.31	5.28	4.35	0.52113	.	0.213738	0.49305	D	0.000153	T	0.09730	0.0239	N	0.13235	0.315	0.45307	D	0.998302	P	0.38167	0.621	B	0.34722	0.188	T	0.08146	-1.0736	10	0.13470	T	0.59	.	13.4642	0.61243	0.0:0.9213:0.0:0.0787	.	309	O60512	B4GT3_HUMAN	H	309;286;309;309	ENSP00000320965:R309H;ENSP00000356977:R309H	ENSP00000320965:R309H	R	-	2	0	B4GALT3	159408486	0.954000	0.32549	0.999000	0.59377	0.999000	0.98932	2.130000	0.42064	2.746000	0.94184	0.655000	0.94253	CGT	.	.	none		0.502	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		T	161141862	C	T	161141862	3	4	22	1	0	0	0	0	1	0	0	0	1272	536	19	1	259	1	B4GALT3	1	161141862	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	119615	161141862	88108759	781	5889										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518233	161518233	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatggacttctagctgcacCgggtcactgagggtggagag	15	8	2	2	rs139622799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161518233C>A	ENST00000436743.1	-	4	451	c.297G>T	c.(295-297)ccG>ccT	p.P99P	FCGR3A_ENST00000443193.1_Silent_p.P134P|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Silent_p.P99P|FCGR3A_ENST00000367969.3_Silent_p.P135P|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	99	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTAGCTGCACCGGGTCACTGA	0.512																																					p.P135P		Atlas-SNP	.											FCGR3A,lower_third,carcinoma,-2,1	FCGR3A	38	1	0			c.G405T						scavenged	.	C	,,,,	144,4262	81.4+/-119.9	0,144,2059	114	112	113		405,402,297,297,294	-8.9	0	1	dbSNP_134	113	7,8587	5.0+/-18.6	0,7,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FCGR3A	NM_000569.6,NM_001127592.1,NM_001127593.1,NM_001127595.1,NM_001127596.1	,,,,	0,151,6349	AA,AC,CC		0.0815,3.2683,1.1615	,,,,	135/291,134/290,99/255,99/255,98/254	161518233	151,12849	2203	4297	6500	SO:0001819	synonymous_variant	2214	exon3			CTGCACCGGGTCA	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.297G>T	1.37:g.161518233C>A		Somatic	488	2	0.00409836		WXS	Illumina HiSeq	Phase_I	585	181	0.309402	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	CCDS44266.1	32	0.014652014652014652	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	11.25	1.583746	0.28268	0.032683	8.15E-4	ENSG00000203747	ENST00000426740	.	.	.	4.43	-8.86	0.00795	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.38428	D	0.94635	.	.	.	.	.	.	T	0.47873	-0.9083	4	.	.	.	.	7.0855	0.25255	0.2513:0.1676:0.0:0.5811	.	.	.	.	L	116	.	.	R	-	2	0	FCGR3A	159784857	0.000000	0.05858	0.029000	0.17559	0.763000	0.43281	-5.433000	0.00123	-3.094000	0.00246	-0.218000	0.12543	CGG	C|0.985;A|0.015	0.015	strong		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		A	161518233	C	A	161518233	2	1	22	1	0	0	0	0	0	0	0	1	5784	639	23	4		4	FCGR3A	1	161518233	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	376371	161518233	87732388	782	5890										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518297	161518297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgtcgtcgactgtggcaGcgtcaatgaagtagctcgag	13	10	1	1	rs52820103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161518297G>T	ENST00000436743.1	-	4	387	c.233C>A	c.(232-234)gCt>gAt	p.A78D	FCGR3A_ENST00000443193.1_Missense_Mutation_p.A113D|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A78D|FCGR3A_ENST00000367969.3_Missense_Mutation_p.A114D|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	78	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTGTGGCAGCGTCAATGAA	0.547																																					p.A114D		Atlas-SNP	.											FCGR3A,NS,carcinoma,-1,1	FCGR3A	38	1	0			c.C341A						PASS	.	G	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	55,4351	49.6+/-84.7	1,53,2149	297	276	283		230,233,233,338,341	-8.9	0	1	dbSNP_128	283	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	FCGR3A	NM_001127596.1,NM_001127595.1,NM_001127593.1,NM_001127592.1,NM_000569.6	126,126,126,126,126	1,53,6449	TT,TG,GG		0.0,1.2483,0.4229	benign,benign,benign,benign,benign	77/254,78/255,78/255,113/290,114/291	161518297	55,12951	2203	4300	6503	SO:0001583	missense	2214	exon3			GTGGCAGCGTCAA	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.233C>A	1.37:g.161518297G>T	ENSP00000416607:p.Ala78Asp	Somatic	638	0	0		WXS	Illumina HiSeq	Phase_I	770	215	0.279221	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.332|3.332	-0.136371|-0.136371	0.06711|0.06711	0.012483|0.012483	0.0|0.0	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.07216|.	3.21;3.21;3.21;3.21;3.21;3.21|.	4.43|4.43	-8.86|-8.86	0.00795|0.00795	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	2.422050|.	0.01662|.	N|.	0.025162|.	T|T	0.04003|0.04003	0.0112|0.0112	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.0;0.0;0.005|.	B;B;B|.	0.09377|.	0.002;0.002;0.004|.	T|T	0.10382|0.10382	-1.0632|-1.0632	10|5	0.30854|.	T|.	0.27|.	.|.	7.9762|7.9762	0.30155|0.30155	0.0652:0.155:0.1371:0.6428|0.0652:0.155:0.1371:0.6428	rs52820103|rs52820103	78;113;78|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	D|M	114;113;78;78;78;77|95	ENSP00000356946:A114D;ENSP00000392047:A113D;ENSP00000416607:A78D;ENSP00000356944:A78D;ENSP00000444971:A78D;ENSP00000396567:A77D|.	ENSP00000356944:A78D|.	A|L	-|-	2|1	0|2	FCGR3A|FCGR3A	159784921|159784921	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.930000|-1.930000	0.01557|0.01557	-3.913000|-3.913000	0.00092|0.00092	-0.467000|-0.467000	0.05162|0.05162	GCT|CTG	G|0.994;T|0.006	0.006	strong		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		T	161518297	G	T	161518297	3	4	22	1	0	0	0	0	1	0	0	0	5784	971	34	4	543	4	FCGR3A	1	161518297	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64	161518297	87732324	783	5891										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518422	161518422	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactgtccttctcgagcacCctgtaccattgaggctccag	8	15	1	1	rs200475280		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161518422C>G	ENST00000436743.1	-	4	262	c.108G>C	c.(106-108)agG>agC	p.R36S	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R71S|FCGR3A_ENST00000367969.3_Missense_Mutation_p.R72S|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R36S	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	36	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTCGAGCACCCTGTACCATT	0.547																																					p.R72S		Atlas-SNP	.											FCGR3A,NS,carcinoma,-1,1	FCGR3A	38	1	0			c.G216C	GRCh37	CM061766	FCGR3A	M		scavenged	.						162	152	155					1																	161518422		2203	4300	6503	SO:0001583	missense	2214	exon3			GAGCACCCTGTAC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.108G>C	1.37:g.161518422C>G	ENSP00000416607:p.Arg36Ser	Somatic	325	7	0.0215385		WXS	Illumina HiSeq	Phase_I	408	27	0.0661765	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.938|6.938	0.542861|0.542861	0.13250|0.13250	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.12255	.|2.7;2.7;2.7;2.7;2.7;2.7	4.43|4.43	-2.63|-2.63	0.06133|0.06133	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.630492	.|0.14320	.|N	.|0.327075	T|T	0.03053|0.03053	0.0090|0.0090	L|L	0.35288|0.35288	1.05|1.05	0.09310|0.09310	A|A	1.56413e-08|1.56413e-08	.|D;D	.|0.58268	.|0.982;0.982	.|P;P	.|0.50570	.|0.644;0.644	T|T	0.17471|0.17471	-1.0368|-1.0368	4|9	.|0.12103	.|T	.|0.63	.|.	0.9726|0.9726	0.01419|0.01419	0.1479:0.2934:0.2902:0.2686|0.1479:0.2934:0.2902:0.2686	rs403016;rs403016|rs403016;rs403016	.|36;71	.|P08637;E9PG94	.|FCG3A_HUMAN;.	A|S	53|72;71;36;36;36;35	.|ENSP00000356946:R72S;ENSP00000392047:R71S;ENSP00000416607:R36S;ENSP00000356944:R36S;ENSP00000444971:R36S;ENSP00000396567:R35S	.|ENSP00000356944:R36S	G|R	-|-	2|3	0|2	FCGR3A|FCGR3A	159785046|159785046	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.021000|0.021000	0.10359|0.10359	-0.311000|-0.311000	0.08124|0.08124	-0.259000|-0.259000	0.09432|0.09432	0.591000|0.591000	0.81541|0.81541	GGG|AGG	G|1.000;|0.000	1.000	weak		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		G	161518422	C	G	161518422	3	3	22	1	0	0	0	0	1	0	0	0	5784	622	22	4	668	4	FCGR3A	1	161518422	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	125	161518422	87732199	784	5892										
FCGR3B	2214	hgsc.bcm.edu	37	chr1	161599654	161599654	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgtcgttgactgtggcaGcgtcaatgaagtagctcgag	13	9	1	2	rs5030738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161599654G>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.A114D|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A78D|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.A78D|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTGTGGCAGCGTCAATGAA	0.537													G|||	415	0.0828674	0.2194	0.0274	5008	,	,		9903	0.0		0.0149	False		,,,				2504	0.093				p.A114D		Atlas-SNP	.											FCGR3B,NS,carcinoma,-1,2	FCGR3B	35	2	0			c.C341A						PASS	.	G	ASP/ALA	839,3489		219,401,1544	89	99	95		233	-4	0	1	dbSNP_113	95	171,8427		6,159,4134	no	missense	FCGR3B	NM_000570.4	126	225,560,5678	TT,TG,GG		1.9888,19.3854,7.8137	benign	78/234	161599654	1010,11916	2164	4299	6463	SO:0001627	intron_variant	2215	exon3			GTGGCAGCGTCAA	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+503C>A	1.37:g.161599654G>T		Somatic	385	2	0.00519481		WXS	Illumina HiSeq	Phase_I	405	362	0.893827	NM_001244753	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		138	0.06318681318681318	114	0.23170731707317074	16	0.04419889502762431	0	0.0	8	0.010554089709762533	G	6.652	0.488714	0.12641	0.193854	0.019888	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.79	-4.03	0.04021	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.831670	0.01069	N	0.004789	T	0.01124	0.0037	N	0.16567	0.415	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.43147	-0.9409	9	0.25751	T	0.34	.	1.0347	0.01546	0.1338:0.2589:0.2896:0.3177	rs5030738	78	O75015	FCG3B_HUMAN	D	78;78;114;61	ENSP00000356941:A78D;ENSP00000294800:A78D;ENSP00000433642:A114D;ENSP00000437084:A61D	ENSP00000294800:A78D	A	-	2	0	FCGR3B	159866278	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.311000	0.01128	-0.976000	0.03542	0.388000	0.25769	GCT	G|0.953;T|0.047	0.047	strong		0.537	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		T	161599654	G	T	161599654	1	4	22	0	1	0	0	0	0	0	0	0	5785	971	34	4		4	FCGR3B	1	161599654	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81232	161599654	87650967	785	5893										
FCGR2B	2213	hgsc.bcm.edu	37	chr1	161645058	161645058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcccagctctcccaggaTaccctgagtgcagggaaatg	10	15	1	1	rs148534844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161645058T>G	ENST00000358671.5	+	6	853	c.772T>G	c.(772-774)Tac>Gac	p.Y258D	FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.Y251D|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367961.4_Missense_Mutation_p.Y251D|FCGR2B_ENST00000367962.4_Missense_Mutation_p.Y258D|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	258			Y -> D (in dbSNP:rs148534844). {ECO:0000269|PubMed:8466861}.		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTCCCAGGATACCCTGAGTG	0.612			T	?	ALL																																p.Y258D		Atlas-SNP	.		Dom	yes		1	1q23	2213	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"		L	.	FCGR2B	33	.	0			c.T772G						PASS	.	T	,,ASP/TYR,ASP/TYR,ASP/TYR	54,4350		0,54,2148	31	29	29		,,769,751,772	-1.8	0.6	1	dbSNP_134	29	1,8599		0,1,4299	no	intron,intron,missense,missense,missense	FCGR2B	NM_001002273.2,NM_001002274.2,NM_001002275.2,NM_001190828.1,NM_004001.4	,,160,160,160	0,55,6447	GG,GT,TT		0.0116,1.2262,0.4229	,,benign,benign,benign	,,257/310,251/304,258/311	161645058	55,12949	2202	4300	6502	SO:0001583	missense	2213	exon6			CCAGGATACCCTG	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.772T>G	1.37:g.161645058T>G	ENSP00000351497:p.Tyr258Asp	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	331	141	0.425982	NM_004001	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	CCDS30924.1	23	0.010531135531135532	19	0.03861788617886179	4	0.011049723756906077	0	0.0	0	0.0	A	9.704	1.155245	0.21454	0.012262	1.16E-4	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000367961;ENST00000358671	T;T;T;T	0.27557	4.78;1.66;1.66;4.78	5.06	-1.78	0.07957	.	1.572250	0.03874	N	0.276032	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.27806	-1.0063	10	0.31617	T	0.26	.	3.8406	0.08912	0.4674:0.0:0.1509:0.3817	.	251;258	P31994-3;P31994	.;FCG2B_HUMAN	D	258;251;251;258	ENSP00000356939:Y258D;ENSP00000356937:Y251D;ENSP00000356938:Y251D;ENSP00000351497:Y258D	ENSP00000351497:Y258D	Y	+	1	0	FCGR2B	159911682	0.585000	0.26774	0.642000	0.29436	0.834000	0.47266	0.095000	0.15127	-0.667000	0.05303	-0.384000	0.06662	TAC	T|0.992;G|0.008	0.008	strong		0.612	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		G	161645058	T	G	161645058	3	3	22	1	0	0	0	0	1	0	0	0	5782	1406	49	5	794	5	FCGR2B	1	161645058	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45404	161645058	87605563	786	5894										
FCRLA	84824	hgsc.bcm.edu	37	chr1	161681780	161681780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgaaccccaagcaggaAgccccatgaccctgagttgt	10	14	0	3	rs2275603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161681780A>G	ENST00000236938.6	+	4	849	c.607A>G	c.(607-609)Agc>Ggc	p.S203G	FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S97G|FCRLA_ENST00000367953.3_Missense_Mutation_p.S192G|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.S192G|FCRLA_ENST00000367957.2_Missense_Mutation_p.S63G|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Missense_Mutation_p.S69G|FCRLA_ENST00000294796.4_Missense_Mutation_p.S52G|FCRLA_ENST00000367959.2_Missense_Mutation_p.S209G|FCRLA_ENST00000546024.1_Missense_Mutation_p.S114G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	186	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAAGCAGGAAGCCCCATGAC	0.522													G|||	2389	0.477037	0.764	0.4553	5008	,	,		17754	0.5734		0.2078	False		,,,				2504	0.2822				p.S209G		Atlas-SNP	.											.	FCRLA	101	.	0			c.A625G						PASS	.	G	GLY/SER,GLY/SER,GLY/SER,,GLY/SER,,GLY/SER	2903,1503	477.0+/-357.8	980,943,280	116	145	135		625,340,205,,187,,607	-8.4	0	1	dbSNP_100	135	1882,6718	726.9+/-406.6	220,1442,2638	yes	missense,missense,missense,intron,missense,intron,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	56,56,56,,56,,56	1200,2385,2918	GG,GA,AA		21.8837,34.1126,36.7907	benign,benign,benign,,benign,,benign	209/383,114/288,69/243,,63/237,,203/377	161681780	4785,8221	2203	4300	6503	SO:0001583	missense	84824	exon5			GCAGGAAGCCCCA	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.607A>G	1.37:g.161681780A>G	ENSP00000236938:p.Ser203Gly	Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_001184866	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	977	0.44734432234432236	357	0.725609756097561	143	0.39502762430939226	317	0.5541958041958042	160	0.21108179419525067	G	0.009	-1.843804	0.00568	0.658874	0.218837	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.57	-8.4	0.00965	.	0.922351	0.09125	N	0.845187	T	0.02610	0.0079	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.15484	0.001;0.013;0.001;0.0;0.001	T	0.46105	-0.9215	9	0.08837	T	0.75	.	20.1836	0.98210	0.8865:0.0:0.1135:0.0	rs2275603;rs60711230;rs2275603	69;63;114;209;203	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	G	203;209;114;69;192;63;97;52;192	ENSP00000236938:S203G;ENSP00000356936:S209G;ENSP00000439838:S114G;ENSP00000442870:S69G;ENSP00000446380:S192G;ENSP00000356934:S63G;ENSP00000309596:S97G;ENSP00000294796:S52G;ENSP00000356930:S192G	ENSP00000236938:S203G	S	+	1	0	FCRLA	159948404	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.373000	0.07494	-2.199000	0.00748	-0.930000	0.02707	AGC	A|0.595;G|0.405	0.405	strong		0.522	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		G	161681780	A	G	161681780	3	3	22	1	0	0	0	0	1	0	0	0	5800	72	3	3	643	3	FCRLA	1	161681780	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36722	161681780	87568841	787	5895										
FCRLB	127943	hgsc.bcm.edu	37	chr1	161697072	161697072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcctccaccaccgccccaGctccatgggccgcagccttg	10	21	0	0	rs72704099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161697072G>C	ENST00000367948.2	+	8	1116	c.901G>C	c.(901-903)Gct>Cct	p.A301P	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.Q245H|FCRLB_ENST00000367944.3_Missense_Mutation_p.S259T|FCRLB_ENST00000336830.5_Missense_Mutation_p.S266T|FCRLB_ENST00000367946.3_Missense_Mutation_p.Q252H|FCRLB_ENST00000392158.1_Missense_Mutation_p.A301P			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	301					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CACCGCCCCAGCTCCATGGGC	0.652													G|||	1565	0.3125	0.652	0.0951	5008	,	,		10331	0.4266		0.0606	False		,,,				2504	0.1493				p.A301P		Atlas-SNP	.											FCRLB,NS,carcinoma,0,1	FCRLB	35	1	0			c.G901C						scavenged	.	G	PRO/ALA	2396,2008		660,1076,466	21	25	23		901	3	0	1	dbSNP_131	23	679,7917		22,635,3641	yes	missense	FCRLB	NM_001002901.2	27	682,1711,4107	CC,CG,GG		7.899,45.5949,23.6538	benign	301/427	161697072	3075,9925	2202	4298	6500	SO:0001583	missense	127943	exon6			GCCCCAGCTCCAT	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.901G>C	1.37:g.161697072G>C	ENSP00000356925:p.Ala301Pro	Somatic	88	1	0.0113636		WXS	Illumina HiSeq	Phase_I	82	82	1	NM_001002901	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	612|612|612	0.2802197802197802|0.2802197802197802|0.2802197802197802	302|302|302	0.6138211382113821|0.6138211382113821|0.6138211382113821	41|41|41	0.1132596685082873|0.1132596685082873|0.1132596685082873	224|224|224	0.3916083916083916|0.3916083916083916|0.3916083916083916	45|45|45	0.059366754617414245|0.059366754617414245|0.059366754617414245	G|G|G	11.35|11.35|11.35	1.611622|1.611622|1.611622	0.28712|0.28712|0.28712	0.544051|0.544051|0.544051	0.07899|0.07899|0.07899	ENSG00000162746|ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000367946;ENST00000367945|ENST00000336830;ENST00000367944	D;D|T;T|T;T	0.96200|0.02067|0.02158	-3.94;-3.94|4.47;4.48|4.42;4.44	3.97|3.97|3.97	3.04|3.04|3.04	0.35103|0.35103|0.35103	.|.|.	1.082470|.|.	0.07330|.|.	N|.|.	0.879054|.|.	T|T|T	0.00815|0.00815|0.00815	0.0027|0.0027|0.0027	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	P|P|P	0.0|0.0|0.0	B|B;B|P;B;B	0.02656|0.33448|0.46512	0.0|0.412;0.412|0.879;0.027;0.027	B|B;B|B;B;B	0.01281|0.31946|0.39660	0.0|0.138;0.138|0.306;0.023;0.023	T|T|T	0.56920|0.56920|0.56920	-0.7899|-0.7899|-0.7899	9|8|8	0.12103|0.45353|0.87932	T|T|D	0.63|0.12|0	.|.|.	9.4625|9.4625|9.4625	0.38794|0.38794|0.38794	0.0:0.2171:0.7829:0.0|0.0:0.2171:0.7829:0.0|0.0:0.2171:0.7829:0.0	.|.|.	301|245;252|303;259;266	Q6BAA4|Q6BAA4-5;Q6BAA4-4|Q96DP6;Q6BAA4-3;Q6BAA4-2	FCRLB_HUMAN|.;.|.;.;.	P|H|T	301|252;245|266;259	ENSP00000356925:A301P;ENSP00000375999:A301P|ENSP00000356923:Q252H;ENSP00000356922:Q245H|ENSP00000338598:S266T;ENSP00000356921:S259T	ENSP00000356925:A301P|ENSP00000356922:Q245H|ENSP00000338598:S266T	A|Q|S	+|+|+	1|3|2	0|2|0	FCRLB|FCRLB|FCRLB	159963696|159963696|159963696	0.024000|0.024000|0.024000	0.19004|0.19004|0.19004	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.081000|0.081000|0.081000	0.17604|0.17604|0.17604	1.639000|1.639000|1.639000	0.37176|0.37176|0.37176	0.874000|0.874000|0.874000	0.35823|0.35823|0.35823	0.442000|0.442000|0.442000	0.29010|0.29010|0.29010	GCT|CAG|AGC	G|0.770;C|0.230	0.230	strong		0.652	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		C	161697072	G	C	161697072	3	2	22	1	0	0	0	0	1	0	0	0	5801	971	34	4	923	4	FCRLB	1	161697072	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15292	161697072	87553549	788	5896										
OLFML2B	25903	hgsc.bcm.edu	37	chr1	161993192	161993192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccacaatcagagcgaagTagagaactagcagccgaggc	12	10	1	2	rs12130792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:161993192T>C	ENST00000294794.3	-	1	452	c.29A>G	c.(28-30)tAc>tGc	p.Y10C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y10C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	10			Y -> C (in dbSNP:rs12130792).		extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGAGCGAAGTAGAGAACTAG	0.627													T|||	488	0.0974441	0.1604	0.0375	5008	,	,		17425	0.1419		0.0726	False		,,,				2504	0.0348				p.Y10C		Atlas-SNP	.											.	OLFML2B	114	.	0			c.A29G						PASS	.	T	CYS/TYR	629,3777	269.5+/-269.1	50,529,1624	56	56	56		29	2.8	0.6	1	dbSNP_120	56	648,7952	165.9+/-218.0	23,602,3675	yes	missense	OLFML2B	NM_015441.1	194	73,1131,5299	CC,CT,TT		7.5349,14.276,9.8185	benign	10/751	161993192	1277,11729	2203	4300	6503	SO:0001583	missense	25903	exon1			GCGAAGTAGAGAA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.29A>G	1.37:g.161993192T>C	ENSP00000294794:p.Tyr10Cys	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	134	132	0.985075	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	239	0.10943223443223443	84	0.17073170731707318	14	0.03867403314917127	85	0.1486013986013986	56	0.07387862796833773	T	5.529	0.282591	0.10458	0.14276	0.075349	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86432	-2.12;-2.12	4.85	2.76	0.32466	.	.	.	.	.	T	0.37919	0.1021	N	0.01576	-0.805	0.23645	P	0.99722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10894	-1.0610	8	0.02654	T	1	.	6.6908	0.23169	0.0:0.7575:0.0:0.2425	rs12130792;rs58683497;rs12130792	10;10	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	10	ENSP00000294794:Y10C;ENSP00000356917:Y10C	ENSP00000294794:Y10C	Y	-	2	0	OLFML2B	160259816	0.782000	0.28689	0.575000	0.28536	0.084000	0.17831	0.741000	0.26202	0.501000	0.28013	-0.366000	0.07423	TAC	T|0.895;C|0.105	0.105	strong		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		C	161993192	T	C	161993192	3	2	22	1	0	0	0	0	1	0	0	0	10858	1638	57	2	2255	2	OLFML2B	1	161993192	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	296120	161993192	87257429	789	5897										
NOS1AP	9722	hgsc.bcm.edu	37	chr1	162335256	162335256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctggaggcccaggctcgCgtgcatcagcttttgctgca	14	13	1	0	rs348624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:162335256C>T	ENST00000361897.5	+	9	1404	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	NOS1AP_ENST00000530878.1_Silent_p.R329R|RP11-565P22.6_ENST00000431696.1_Silent_p.R20R|NOS1AP_ENST00000493151.1_Silent_p.R39R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	334					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCAGGCTCGCGTGCATCAGC	0.592													C|||	1256	0.250799	0.4342	0.2161	5008	,	,		18697	0.123		0.1193	False		,,,				2504	0.2945				p.R334R		Atlas-SNP	.											.	NOS1AP	139	.	0			c.C1002T						PASS	.	C	,,	1761,2645	521.9+/-370.6	339,1083,781	69	63	65	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	117,987,1002	-7.3	0.9	1	dbSNP_79	65	1031,7569	219.4+/-257.5	60,911,3329	no	coding-synonymous,coding-synonymous,coding-synonymous	NOS1AP	NM_001126060.1,NM_001164757.1,NM_014697.2	,,	399,1994,4110	TT,TC,CC		11.9884,39.9682,21.467	,,	39/212,329/502,334/507	162335256	2792,10214	2203	4300	6503	SO:0001819	synonymous_variant	9722	exon9			GGCTCGCGTGCAT	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1002C>T	1.37:g.162335256C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	112	53	0.473214	NM_014697	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	CCDS1237.1																																																																																			C|0.779;T|0.221	0.221	strong		0.592	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		T	162335256	C	T	162335256	2	4	22	1	0	0	0	0	0	0	0	1	10542	755	27	1		1	NOS1AP	1	162335256	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	342064	162335256	86915365	790	5898										
UHMK1	127933	hgsc.bcm.edu	37	chr1	162467927	162467927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttcgctgctgcggcaaccCtggctcgccccccggcgccc	13	20	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:162467927C>G	ENST00000489294.1	+	1	295	c.137C>G	c.(136-138)cCt>cGt	p.P46R	UHMK1_ENST00000538489.1_Missense_Mutation_p.P46R|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGCGGCAACCCTGGCTCGCCC	0.697																																					p.P46R		Atlas-SNP	.											UHMK1_ENST00000489294,NS,carcinoma,0,2	UHMK1	65	2	0			c.C137G						PASS	.						11	14	13					1																	162467927		2186	4284	6470	SO:0001583	missense	127933	exon1			GCAACCCTGGCTC	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.137C>G	1.37:g.162467927C>G	ENSP00000420270:p.Pro46Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_175866	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374293	0.42105	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.19669	2.13;2.13	4.94	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064455	0.64402	D	0.000006	T	0.05044	0.0135	N	0.16166	0.38	.	.	.	P;B	0.35821	0.523;0.324	B;B	0.24541	0.054;0.053	T	0.23332	-1.0191	9	0.39692	T	0.17	-9.9211	13.8569	0.63534	0.0:1.0:0.0:0.0	.	46;46	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	R	46	ENSP00000446416:P46R;ENSP00000420270:P46R	ENSP00000420270:P46R	P	+	2	0	UHMK1	160734551	0.781000	0.28676	0.811000	0.32455	0.991000	0.79684	3.781000	0.55394	2.715000	0.92844	0.655000	0.94253	CCT	.	.	none		0.697	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		G	162467927	C	G	162467927	3	3	22	1	0	0	0	0	1	0	0	0	16963	681	24	4	189	4	UHMK1	1	162467927	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	132671	162467927	86782694	791	5899										
UAP1	6675	hgsc.bcm.edu	37	chr1	162560209	162560209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaccctactactgcaagGcatgctttgatgtcccttca	7	13	1	1	rs61743694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:162560209G>A	ENST00000367925.1	+	7	1298	c.1266G>A	c.(1264-1266)agG>agA	p.R422R	UAP1_ENST00000367924.1_Silent_p.R422R|UAP1_ENST00000271469.3_Silent_p.R422R|RP11-359K18.4_ENST00000609669.1_RNA|UAP1_ENST00000367926.4_Silent_p.R422R			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	422					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTACTGCAAGGCATGCTTTGA	0.458													G|||	119	0.023762	0.0877	0.0043	5008	,	,		19084	0.0		0.0	False		,,,				2504	0.0				p.R422R		Atlas-SNP	.											.	UAP1	47	.	0			c.G1266A						PASS	.	G		377,4029	191.2+/-216.9	15,347,1841	174	159	164		1266	1	0.6	1	dbSNP_129	164	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous	UAP1	NM_003115.4		15,355,6133	AA,AG,GG		0.093,8.5565,2.9602		422/506	162560209	385,12621	2203	4300	6503	SO:0001819	synonymous_variant	6675	exon8			TGCAAGGCATGCT	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1266G>A	1.37:g.162560209G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	162	88	0.54321	NM_003115	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37																																																																																				G|0.969;A|0.031	0.031	strong		0.458	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		A	162560209	G	A	162560209	2	1	22	1	0	0	0	0	0	0	0	1	16822	1194	42	2		2	UAP1	1	162560209	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	92282	162560209	86690412	792	5900										
DDR2	4921	hgsc.bcm.edu	37	chr1	162737116	162737116	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatcattgtcatcatcctCtggaggcagttctggcagaa	10	11	5	1	rs2298258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:162737116C>G	ENST00000367922.3	+	12	1698	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	DDR2_ENST00000367921.3_Silent_p.L420L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	420					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCATCATCCTCTGGAGGCAGT	0.473													C|||	1745	0.348442	0.5023	0.353	5008	,	,		20143	0.4077		0.1461	False		,,,				2504	0.2843				p.L420L	NSCLC(161;314 2006 8283 19651 23192)	Atlas-SNP	.											DDR2_ENST00000367922,NS,carcinoma,+2,1	DDR2	228	1	0			c.C1260G						PASS	.	C	,	2082,2324	572.6+/-383.4	502,1078,623	117	107	110		1260,1260	1.6	1	1	dbSNP_100	110	1264,7336	252.6+/-278.6	103,1058,3139	no	coding-synonymous,coding-synonymous	DDR2	NM_001014796.1,NM_006182.2	,	605,2136,3762	GG,GC,CC		14.6977,47.2537,25.7266	,	420/856,420/856	162737116	3346,9660	2203	4300	6503	SO:0001819	synonymous_variant	4921	exon12			CATCCTCTGGAGG	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1260C>G	1.37:g.162737116C>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	199	89	0.447236	NM_001014796	Q7Z730	Silent	SNP	ENST00000367922.3	37	CCDS1241.1	705	0.3228021978021978	253	0.5142276422764228	113	0.31215469613259667	237	0.4143356643356643	102	0.1345646437994723	C	9.562	1.118647	0.20877	0.472537	0.146977	ENSG00000162733	ENST00000433757	T	0.74315	-0.83	5.79	1.65	0.23941	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	.	.	.	0.31024	P	0.717955	.	.	.	.	.	.	T	0.68010	-0.5522	6	0.87932	D	0	.	9.3142	0.37924	0.0:0.5761:0.2821:0.1418	rs2298258;rs2298258	.	.	.	V	13	ENSP00000396864:L13V	ENSP00000396864:L13V	L	+	1	2	DDR2	161003740	0.991000	0.36638	0.998000	0.56505	0.995000	0.86356	0.218000	0.17622	0.034000	0.15491	0.655000	0.94253	CTG	C|0.718;G|0.282	0.282	strong		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		G	162737116	C	G	162737116	2	3	22	1	0	0	0	0	0	0	0	1	4337	900	32	4		4	DDR2	1	162737116	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176907	162737116	86513505	793	5901										
LRRC52	440699	hgsc.bcm.edu	37	chr1	165532746	165532746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtttttcttcttagatgaTctaaatgccacatgtgtgga	9	6	3	2	rs17407838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:165532746T>A	ENST00000294818.1	+	2	917	c.627T>A	c.(625-627)gaT>gaA	p.D209E	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	209	LRRCT.		D -> E (in dbSNP:rs17407838).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCTTAGATGATCTAAATGCCA	0.572													T|||	293	0.0585064	0.1006	0.062	5008	,	,		20087	0.0		0.1034	False		,,,				2504	0.0133				p.D209E		Atlas-SNP	.											.	LRRC52	50	.	0			c.T627A						PASS	.	T	GLU/ASP	411,3995	198.1+/-222.0	14,383,1806	45	37	40		627	-8.6	0	1	dbSNP_123	40	905,7695	195.9+/-241.0	54,797,3449	yes	missense	LRRC52	NM_001005214.3	45	68,1180,5255	AA,AT,TT		10.5233,9.3282,10.1184	benign	209/314	165532746	1316,11690	2203	4300	6503	SO:0001583	missense	440699	exon2			AGATGATCTAAAT	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.627T>A	1.37:g.165532746T>A	ENSP00000294818:p.Asp209Glu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_001005214	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	144	0.06593406593406594	49	0.09959349593495935	21	0.058011049723756904	0	0.0	74	0.09762532981530343	T	0.006	-2.043824	0.00398	0.093282	0.105233	ENSG00000162763	ENST00000294818	T	0.64803	-0.12	4.28	-8.56	0.00904	.	0.544586	0.19975	N	0.101883	T	0.07188	0.0182	N	0.08118	0	0.24481	P	0.994347	B	0.02656	0.0	B	0.01281	0.0	T	0.14924	-1.0455	9	0.02654	T	1	.	4.7372	0.12993	0.1777:0.3642:0.3582:0.0998	rs17407838;rs52823561;rs17407838	209	Q8N7C0	LRC52_HUMAN	E	209	ENSP00000294818:D209E	ENSP00000294818:D209E	D	+	3	2	LRRC52	163799370	0.000000	0.05858	0.000000	0.03702	0.400000	0.30750	-4.590000	0.00211	-3.350000	0.00181	-1.123000	0.02005	GAT	T|0.917;A|0.083	0.083	strong		0.572	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		A	165532746	T	A	165532746	3	1	22	1	0	0	0	0	1	0	0	0	9010	1432	50	5	633	5	LRRC52	1	165532746	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2795630	165532746	83717875	794	5902										
ALDH9A1	223	hgsc.bcm.edu	37	chr1	165649851	165649851	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaggtacaccagcctcaCtgtagatttcagccagtagc	10	12	2	1	rs1065756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:165649851C>G	ENST00000354775.4	-	5	966	c.662G>C	c.(661-663)aGt>aCt	p.S221T	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.S127T|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	197					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCAGCCTCACTGTAGATTTC	0.498													G|||	177	0.0353435	0.0363	0.0548	5008	,	,		17777	0.0069		0.005	False		,,,				2504	0.0808				p.S221T	Ovarian(179;1583 2014 18106 33801 42447)	Atlas-SNP	.											.	ALDH9A1	75	.	0			c.G662C						PASS	.	G	THR/SER	185,4221	810.1+/-416.0	6,173,2024	107	108	107		662	5.6	0	1	dbSNP_86	107	13,8587	818.7+/-406.8	0,13,4287	yes	missense	ALDH9A1	NM_000696.3	58	6,186,6311	GG,GC,CC		0.1512,4.1988,1.5224	benign	221/519	165649851	198,12808	2203	4300	6503	SO:0001583	missense	223	exon5			GCCTCACTGTAGA	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.662G>C	1.37:g.165649851C>G	ENSP00000346827:p.Ser221Thr	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	213	81	0.380282	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	CCDS1250.2	39	0.017857142857142856	21	0.042682926829268296	11	0.03038674033149171	5	0.008741258741258742	2	0.002638522427440633	G	0.018	-1.474171	0.01044	0.041988	0.001512	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.76186	-1.0;-1.0	5.63	5.63	0.86233	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.330866	0.35677	N	0.003042	T	0.24736	0.0600	N	0.01705	-0.755	0.09310	P	1.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.11916	-1.0568	9	0.02654	T	1	.	14.5589	0.68120	0.0:0.1473:0.8527:0.0	rs1065756;rs52833383;rs58505705;rs1065756	127;211;197;221	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	T	221;127	ENSP00000346827:S221T;ENSP00000440026:S127T	ENSP00000346827:S221T	S	-	2	0	ALDH9A1	163916475	0.381000	0.25140	0.010000	0.14722	0.231000	0.25187	2.320000	0.43797	1.390000	0.46547	-0.120000	0.15030	AGT	C|0.978;G|0.022	0.022	strong		0.498	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			G	165649851	C	G	165649851	3	3	22	1	0	0	0	0	1	0	0	0	506	565	20	4	922	4	ALDH9A1	1	165649851	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117105	165649851	83600770	795	5903										
UCK2	7371	hgsc.bcm.edu	37	chr1	165859482	165859482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcagctcctggggcagaaTgaggtggactatcgccagaa	15	9	0	3	rs145654595		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:165859482T>C	ENST00000367879.4	+	2	444	c.141T>C	c.(139-141)aaT>aaC	p.N47N	UCK2_ENST00000372212.4_Silent_p.N47N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	47					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGGGGCAGAATGAGGTGGACT	0.557																																					p.N47N		Atlas-SNP	.											.	UCK2	31	.	0			c.T141C						PASS	.	T		2,4404	4.2+/-10.8	0,2,2201	138	120	126		141	-3.1	1	1	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	UCK2	NM_012474.4		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		47/262	165859482	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7371	exon2			GCAGAATGAGGTG	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.141T>C	1.37:g.165859482T>C		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	243	118	0.485597	NM_012474	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Silent	SNP	ENST00000367879.4	37	CCDS1252.1																																																																																			T|1.000;C|0.000	0.000	weak		0.557	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		C	165859482	T	C	165859482	2	2	22	1	0	0	0	0	0	0	0	1	16921	1461	51	2		2	UCK2	1	165859482	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	209631	165859482	83391139	796	5904										
FAM78B	149297	hgsc.bcm.edu	37	chr1	166039898	166039898	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtggggccaaccagggtCacagtttctgtggtgttccc	14	10	2	0	rs41269662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:166039898C>G	ENST00000338353.3	-	3	955	c.366G>C	c.(364-366)gtG>gtC	p.V122V	FAM78B_ENST00000354422.3_Silent_p.V122V			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	122										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAACCAGGGTCACAGTTTCTG	0.542													C|||	1120	0.223642	0.211	0.3156	5008	,	,		19058	0.256		0.1501	False		,,,				2504	0.2178				p.V122V		Atlas-SNP	.											.	FAM78B	51	.	0			c.G366C						PASS	.	C		895,3511	347.2+/-309.4	91,713,1399	139	128	132		366	4.6	1	1	dbSNP_127	132	1132,7468	233.9+/-267.0	76,980,3244	no	coding-synonymous	FAM78B	NM_001017961.3		167,1693,4643	GG,GC,CC		13.1628,20.3132,15.5851		122/262	166039898	2027,10979	2203	4300	6503	SO:0001819	synonymous_variant	149297	exon2			CAGGGTCACAGTT	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.366G>C	1.37:g.166039898C>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_001017961	B7Z693	Silent	SNP	ENST00000338353.3	37	CCDS30931.1																																																																																			C|0.820;G|0.180	0.180	strong		0.542	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		G	166039898	C	G	166039898	2	3	22	1	0	0	0	0	0	0	0	1	5627	813	29	4		4	FAM78B	1	166039898	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180416	166039898	83210723	797	5905										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167095163	167095163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccatctaccccaatgaGggcttcctgaagcagctgcg	12	14	1	2	rs267745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167095163G>C	ENST00000361200.2	+	6	961	c.795G>C	c.(793-795)gaG>gaC	p.E265D	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.E265D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E265D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	265			E -> D (in dbSNP:rs267745). {ECO:0000269|PubMed:15489334}.		protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCCCAATGAGGGCTTCCTGA	0.587													C|||	3215	0.641973	0.888	0.4597	5008	,	,		19822	0.872		0.4751	False		,,,				2504	0.3732				p.E265D		Atlas-SNP	.											.	DUSP27	235	.	0			c.G795C						PASS	.	C	ASP/GLU	3677,729	302.1+/-287.2	1536,605,62	77	76	76		795	-4.6	0.8	1	dbSNP_79	76	4153,4447	588.8+/-392.4	1003,2147,1150	yes	missense	DUSP27	NM_001080426.1	45	2539,2752,1212	CC,CG,GG		48.2907,16.5456,39.797	benign	265/1159	167095163	7830,5176	2203	4300	6503	SO:0001583	missense	92235	exon5			CAATGAGGGCTTC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.795G>C	1.37:g.167095163G>C	ENSP00000354483:p.Glu265Asp	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	99	47	0.474747	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	1439	0.6588827838827839	417	0.8475609756097561	181	0.5	508	0.8881118881118881	333	0.4393139841688654	C	2.612	-0.290557	0.05568	0.834544	0.482907	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	D;D;D	0.85484	-1.99;-1.99;-1.99	5.55	-4.59	0.03400	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.312145	0.34802	N	0.003677	T	0.30386	0.0763	N	0.04787	-0.16	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34428	-0.9829	9	0.02654	T	1	-28.9626	2.8034	0.05421	0.1828:0.2921:0.0838:0.4413	rs267745;rs12734908;rs52812145;rs61430367;rs267745	265	Q5VZP5	DUS27_HUMAN	D	265	ENSP00000354483:E265D;ENSP00000271385:E265D;ENSP00000404874:E265D	ENSP00000271385:E265D	E	+	3	2	DUSP27	165361787	0.000000	0.05858	0.815000	0.32552	0.967000	0.64934	-2.213000	0.01224	-0.793000	0.04475	-0.756000	0.03474	GAG	G|0.373;C|0.627	0.627	strong		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167095163	G	C	167095163	3	2	22	1	0	0	0	0	1	0	0	0	4824	991	35	4	813	4	DUSP27	1	167095163	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1055265	167095163	82155458	798	5906										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167095765	167095765	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggaccacggcaggaggcGccgcgcagactcgatgtcct					rs6668826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167095765G>A	ENST00000361200.2	+	6	1563	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R466H|DUSP27_ENST00000271385.5_Missense_Mutation_p.R466H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	466			R -> H (in dbSNP:rs6668826).		protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCAGGAGGCGCCGCGCAGAC	0.657													G|||	1648	0.329073	0.2716	0.2003	5008	,	,		16759	0.7421		0.168	False		,,,				2504	0.2382				p.R466H		Atlas-SNP	.											.	DUSP27	235	.	0			c.G1397A						PASS	.	G	HIS/ARG	1134,3270		156,822,1224	20	20	20		1397	-0.1	0.2	1	dbSNP_116	20	1470,7130		121,1228,2951	yes	missense	DUSP27	NM_001080426.1	29	277,2050,4175	AA,AG,GG		17.093,25.7493,20.0246	benign	466/1159	167095765	2604,10400	2202	4300	6502	SO:0001583	missense	92235	exon5			GGAGGCGCCGCGC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1397G>A	1.37:g.167095765G>A	ENSP00000354483:p.Arg466His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	46	0.474227	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	770	0.3525641025641026	138	0.2804878048780488	74	0.20441988950276244	435	0.7604895104895105	123	0.16226912928759896	G	9.024	0.985628	0.18889	0.257493	0.17093	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03152	4.03;4.03;4.03	5.17	-0.114	0.13564	.	0.885835	0.09670	N	0.771269	T	0.00724	0.0024	N	0.17674	0.51	0.80722	P	0.0	B	0.11235	0.004	B	0.01281	0.0	T	0.46527	-0.9185	9	0.23891	T	0.37	-1.7364	5.0653	0.14578	0.3141:0.1417:0.5442:0.0	rs6668826;rs60156845;rs6668826	466	Q5VZP5	DUS27_HUMAN	H	466	ENSP00000354483:R466H;ENSP00000271385:R466H;ENSP00000404874:R466H	ENSP00000271385:R466H	R	+	2	0	DUSP27	165362389	0.000000	0.05858	0.172000	0.22920	0.278000	0.26855	0.147000	0.16202	-0.028000	0.13850	0.643000	0.83706	CGC	G|0.731;A|0.269	0.269	strong		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167095765	G	A	167095765	3	1	22	1	0	0	0	0	1	0	0	0	4824	1087	38	1	1415	1	DUSP27	1	167095765	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	602	167095765	82154856	799	5907	120	2								
DUSP27	92235	hgsc.bcm.edu	37	chr1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccacggcaggaggcgccGcgcagactcgatgtcctcgg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652																																					p.R467H		Atlas-SNP	.											DUSP27,NS,carcinoma,0,2	DUSP27	235	2	1	Substitution - Missense(1)	lung(1)	c.G1400A						PASS	.						21	21	21					1																	167095768		2202	4300	6502	SO:0001583	missense	92235	exon5			GGCGCCGCGCAGA	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1400G>A	1.37:g.167095768G>A	ENSP00000354483:p.Arg467His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	98	13	0.132653	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155451	0.38021	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.02	4.1	0.47936	.	0.086313	0.49305	D	0.000150	T	0.02649	0.0080	M	0.67953	2.075	0.30396	N	0.780517	B	0.19817	0.039	B	0.12156	0.007	T	0.12268	-1.0554	10	0.87932	D	0	-16.6929	13.7869	0.63115	0.076:0.0:0.924:0.0	.	467	Q5VZP5	DUS27_HUMAN	H	467	ENSP00000354483:R467H;ENSP00000271385:R467H;ENSP00000404874:R467H	ENSP00000271385:R467H	R	+	2	0	DUSP27	165362392	0.650000	0.27331	0.790000	0.31976	0.263000	0.26337	2.340000	0.43974	2.291000	0.77112	0.643000	0.83706	CGC	.	.	none		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167095768	G	A	167095768	3	1	22	1	0	0	0	0	1	0	0	0	4824	1087	38	1	1418	1	DUSP27	1	167095768	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	167095768	82154853	800	5908	120	2								
DUSP27	92235	hgsc.bcm.edu	37	chr1	167095881	167095881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcaagagagaggaggcgGcagacaggagctcagaagca	17	7	1	5	rs3795605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167095881G>A	ENST00000361200.2	+	6	1679	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.A505T|DUSP27_ENST00000271385.5_Missense_Mutation_p.A505T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	505			A -> T (in dbSNP:rs3795605).		protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGGCGGCAGACAGGAG	0.602													G|||	1649	0.329273	0.2716	0.2003	5008	,	,		17544	0.7431		0.168	False		,,,				2504	0.2382				p.A505T		Atlas-SNP	.											.	DUSP27	235	.	0			c.G1513A						PASS	.	G	THR/ALA	1135,3271	404.2+/-333.0	155,825,1223	54	50	51		1513	-1	0	1	dbSNP_107	51	1464,7136	276.8+/-292.5	115,1234,2951	yes	missense	DUSP27	NM_001080426.1	58	270,2059,4174	AA,AG,GG		17.0233,25.7603,19.9831	benign	505/1159	167095881	2599,10407	2203	4300	6503	SO:0001583	missense	92235	exon5			GAGGCGGCAGACA	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1513G>A	1.37:g.167095881G>A	ENSP00000354483:p.Ala505Thr	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	211	99	0.469194	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	770	0.3525641025641026	138	0.2804878048780488	74	0.20441988950276244	435	0.7604895104895105	123	0.16226912928759896	G	6.531	0.466291	0.12402	0.257603	0.170233	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03035	4.07;4.07;4.07	1.3	-0.985	0.10256	.	1.384540	0.05035	N	0.475240	T	0.00845	0.0028	N	0.22421	0.69	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.48670	-0.9015	9	0.42905	T	0.14	-1.7175	3.7835	0.08690	0.5587:0.0:0.4413:0.0	rs3795605;rs52789985;rs58508566;rs3795605	505	Q5VZP5	DUS27_HUMAN	T	505	ENSP00000354483:A505T;ENSP00000271385:A505T;ENSP00000404874:A505T	ENSP00000271385:A505T	A	+	1	0	DUSP27	165362505	0.142000	0.22610	0.008000	0.14137	0.008000	0.06430	0.659000	0.24994	-0.155000	0.11098	-0.148000	0.13756	GCA	G|0.731;A|0.269	0.269	strong		0.602	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167095881	G	A	167095881	3	1	22	1	0	0	0	0	1	0	0	0	4824	1203	42	2	1531	2	DUSP27	1	167095881	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113	167095881	82154740	801	5909										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167096770	167096770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgcagtctgtgctgtcctGcaacaccacactgagctcac	8	15	2	1	rs371850525		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167096770G>C	ENST00000361200.2	+	6	2568	c.2402G>C	c.(2401-2403)tGc>tCc	p.C801S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.C801S|DUSP27_ENST00000271385.5_Missense_Mutation_p.C801S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	801					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCTGTCCTGCAACACCACA	0.567																																					p.C801S		Atlas-SNP	.											.	DUSP27	235	.	0			c.G2402C						PASS	.	G	SER/CYS	1,4405	2.1+/-5.4	0,1,2202	83	74	77		2402	3.2	0.9	1		77	0,8600		0,0,4300	no	missense	DUSP27	NM_001080426.1	112	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign	801/1159	167096770	1,13005	2203	4300	6503	SO:0001583	missense	92235	exon5			TGTCCTGCAACAC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2402G>C	1.37:g.167096770G>C	ENSP00000354483:p.Cys801Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.752901	0.00085	2.27E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03035	4.07;4.07;4.07	5.17	3.24	0.37175	.	1.061880	0.07353	N	0.882768	T	0.00412	0.0013	N	0.01352	-0.895	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.05721	T	0.95	-3.5335	9.1613	0.37023	0.1176:0.3669:0.5156:0.0	.	801	Q5VZP5	DUS27_HUMAN	S	801	ENSP00000354483:C801S;ENSP00000271385:C801S;ENSP00000404874:C801S	ENSP00000271385:C801S	C	+	2	0	DUSP27	165363394	0.260000	0.24053	0.904000	0.35570	0.039000	0.13416	0.246000	0.18160	1.143000	0.42306	-0.371000	0.07208	TGC	.	.	none		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167096770	G	C	167096770	3	2	22	1	0	0	0	0	1	0	0	0	4824	1319	46	4	2420	4	DUSP27	1	167096770	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	889	167096770	82153851	802	5910										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167097739	167097739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcccagtatcggagaagcaCtgacagggaggaagaggaag	16	7	0	3	rs2281959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167097739C>A	ENST00000361200.2	+	6	3537	c.3371C>A	c.(3370-3372)aCt>aAt	p.T1124N	DUSP27_ENST00000443333.1_Missense_Mutation_p.T1124N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1124N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1124			T -> N (in dbSNP:rs2281959).		protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGAGAAGCACTGACAGGGAG	0.517													C|||	1914	0.382188	0.2776	0.2867	5008	,	,		20287	0.7431		0.3141	False		,,,				2504	0.2894				p.T1124N		Atlas-SNP	.											.	DUSP27	235	.	0			c.C3371A						PASS	.	C	ASN/THR	1248,3158	428.7+/-342.0	181,886,1136	46	42	43		3371	0.9	0.4	1	dbSNP_100	43	2668,5932	425.7+/-355.0	433,1802,2065	yes	missense	DUSP27	NM_001080426.1	65	614,2688,3201	AA,AC,CC		31.0233,28.325,30.1092	probably-damaging	1124/1159	167097739	3916,9090	2203	4300	6503	SO:0001583	missense	92235	exon5			GAAGCACTGACAG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3371C>A	1.37:g.167097739C>A	ENSP00000354483:p.Thr1124Asn	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	59	31	0.525424	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	917	0.4198717948717949	142	0.2886178861788618	117	0.32320441988950277	435	0.7604895104895105	223	0.2941952506596306	C	5.249	0.231340	0.09969	0.28325	0.310233	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03580	3.88;3.88;3.88	5.4	0.916	0.19373	.	0.385319	0.22313	N	0.061703	T	0.01523	0.0049	M	0.63428	1.95	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.33085	-0.9882	9	0.87932	D	0	-3.2628	4.6731	0.12699	0.3827:0.4217:0.1241:0.0714	rs2281959;rs52811569;rs60867293;rs2281959	1124	Q5VZP5	DUS27_HUMAN	N	1124	ENSP00000354483:T1124N;ENSP00000271385:T1124N;ENSP00000404874:T1124N	ENSP00000271385:T1124N	T	+	2	0	DUSP27	165364363	0.002000	0.14202	0.363000	0.25875	0.335000	0.28730	0.036000	0.13819	0.198000	0.20407	-0.335000	0.08231	ACT	C|0.639;A|0.361	0.361	strong		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167097739	C	A	167097739	3	1	22	1	0	0	0	0	1	0	0	0	4824	565	20	4	3389	4	DUSP27	1	167097739	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	969	167097739	82152882	803	5911										
ADCY10	55811	hgsc.bcm.edu	37	chr1	167825485	167825485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaggctgtactgcaccaaTgacaatgtaggtggtgttcc	12	8	0	1	rs2071921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:167825485T>C	ENST00000367851.4	-	17	2273	c.2089A>G	c.(2089-2091)Att>Gtt	p.I697V	ADCY10_ENST00000367848.1_Missense_Mutation_p.I605V|ADCY10_ENST00000545172.1_Missense_Mutation_p.I544V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	697			I -> V (in dbSNP:rs2071921). {ECO:0000269|PubMed:11423534, ECO:0000269|PubMed:11932268, ECO:0000269|PubMed:12609998}.		cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTGCACCAATGACAATGTAG	0.458													t|||	2527	0.504593	0.4599	0.5749	5008	,	,		19993	0.7113		0.4105	False		,,,				2504	0.3988				p.I697V		Atlas-SNP	.											.	ADCY10	175	.	0			c.A2089G						PASS	.	T	VAL/ILE,VAL/ILE	2032,2374	563.4+/-381.2	471,1090,642	303	255	271		1630,2089	-2.4	0	1	dbSNP_96	271	3436,5164	506.2+/-376.5	692,2052,1556	yes	missense,missense	ADCY10	NM_001167749.1,NM_018417.4	29,29	1163,3142,2198	CC,CT,TT		39.9535,46.1189,42.0421	benign,benign	544/1458,697/1611	167825485	5468,7538	2203	4300	6503	SO:0001583	missense	55811	exon17			CACCAATGACAAT	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2089A>G	1.37:g.167825485T>C	ENSP00000356825:p.Ile697Val	Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	222	222	1	NM_018417	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	1129	0.516941391941392	220	0.44715447154471544	188	0.5193370165745856	408	0.7132867132867133	313	0.4129287598944591	t	0.819	-0.749259	0.03065	0.461189	0.399535	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.33438	1.41;1.41;1.41	5.16	-2.43	0.06522	.	0.557476	0.16133	N	0.228103	T	0.09555	0.0235	L	0.46157	1.445	0.09310	P	0.999995	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24870	-1.0148	9	0.38643	T	0.18	-4.5789	8.8481	0.35184	0.0:0.2154:0.3222:0.4624	rs2071921;rs52793140;rs60587593;rs2071921	544;605;697	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	V	544;697;605	ENSP00000441992:I544V;ENSP00000356825:I697V;ENSP00000356822:I605V	ENSP00000356822:I605V	I	-	1	0	ADCY10	166092109	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.086000	0.14935	-0.260000	0.09418	-2.765000	0.00121	ATT	C|0.470;N|0.000	0.470	strong		0.458	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		C	167825485	T	C	167825485	3	2	22	1	0	0	0	0	1	0	0	0	293	1464	51	2	2811	2	ADCY10	1	167825485	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	727746	167825485	81425136	804	5912										
DCAF6	55827	hgsc.bcm.edu	37	chr1	168013850	168013850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagaatcatcagaggatgTgacaaaatatcaggaaggag	12	4	3	4	rs11558511	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:168013850T>C	ENST00000312263.6	+	13	1844	c.1640T>C	c.(1639-1641)gTg>gCg	p.V547A	DCAF6_ENST00000367843.3_Missense_Mutation_p.V567A|DCAF6_ENST00000432587.2_Missense_Mutation_p.V593A|DCAF6_ENST00000367840.3_Missense_Mutation_p.V624A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	547			V -> A (in dbSNP:rs11558511). {ECO:0000269|PubMed:15489334}.		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCAGAGGATGTGACAAAATAT	0.373													T|||	924	0.184505	0.0545	0.1383	5008	,	,		18636	0.2044		0.2823	False		,,,				2504	0.272				p.V624A		Atlas-SNP	.											.	DCAF6	99	.	0			c.T1871C						PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	383,4023	192.6+/-218.0	13,357,1833	104	105	105		1640,1871,1778,1700	2.5	0.9	1	dbSNP_120	105	2364,6236	394.6+/-344.7	324,1716,2260	yes	missense,missense,missense,missense	DCAF6	NM_001017977.2,NM_001198956.1,NM_001198957.1,NM_018442.3	64,64,64,64	337,2073,4093	CC,CT,TT		27.4884,8.6927,21.121	benign,benign,benign,benign	547/861,624/952,593/921,567/881	168013850	2747,10259	2203	4300	6503	SO:0001583	missense	55827	exon15			AGGATGTGACAAA	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1640T>C	1.37:g.168013850T>C	ENSP00000311949:p.Val547Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	167	79	0.473054	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	414	0.18956043956043955	24	0.04878048780487805	62	0.1712707182320442	117	0.20454545454545456	211	0.2783641160949868	T	3.734	-0.054977	0.07362	0.086927	0.274884	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.91	2.53	0.30540	WD40 repeat-like-containing domain (1);	1.234980	0.05717	N	0.597043	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	P	1.0	B;B;B;B	0.12013	0.001;0.001;0.005;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.35624	-0.9781	9	0.07175	T	0.84	.	2.2628	0.04071	0.2191:0.2799:0.0:0.501	rs11558511;rs17855508;rs56482202;rs11558511	593;624;547;567	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	A	567;593;547;624	ENSP00000356817:V567A;ENSP00000396238:V593A;ENSP00000311949:V547A;ENSP00000356814:V624A	ENSP00000311949:V547A	V	+	2	0	DCAF6	166280474	0.002000	0.14202	0.895000	0.35142	0.932000	0.56968	-0.106000	0.10890	0.704000	0.31869	0.533000	0.62120	GTG	C|0.196;N|0.000	0.196	strong		0.373	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		C	168013850	T	C	168013850	3	2	22	1	0	0	0	0	1	0	0	0	4274	1696	59	2	1754	2	DCAF6	1	168013850	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	188365	168013850	81236771	805	5913										
XCL1	6375	hgsc.bcm.edu	37	chr1	168549321	168549321	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtagggagtgaagtctcaGataagaggacctgtgtgagc					rs56148248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:168549321G>C	ENST00000367818.3	+	2	247	c.82G>C	c.(82-84)Gat>Cat	p.D28H		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	28					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGAAGTCTCAGATAAGAGGAC	0.433													G|||	160	0.0319489	0.115	0.0029	5008	,	,		19069	0.001		0.005	False		,,,				2504	0.0				p.D28H		Atlas-SNP	.											.	XCL1	16	.	0			c.G82C						PASS	.	G	HIS/ASP	274,4132		34,206,1963	129	132	131		82	0.2	0	1	dbSNP_129	131	4,8596		0,4,4296	no	missense	XCL1	NM_002995.2	81	34,210,6259	CC,CG,GG		0.0465,6.2188,2.1375	benign	28/115	168549321	278,12728	2203	4300	6503	SO:0001583	missense	6375	exon2			GTCTCAGATAAGA	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.82G>C	1.37:g.168549321G>C	ENSP00000356792:p.Asp28His	Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	161	68	0.42236	NM_002995	Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	44	0.020146520146520148	37	0.07520325203252033	2	0.0055248618784530384	1	0.0017482517482517483	4	0.005277044854881266	G	11.98	1.801914	0.31869	0.062188	4.65E-4	ENSG00000143184	ENST00000367818	T	0.03982	3.74	4.36	0.171	0.15026	Chemokine interleukin-8-like domain (2);	1.336140	0.04578	N	0.394548	T	0.02193	0.0068	L	0.29908	0.895	0.25228	N	0.98985	P	0.44309	0.832	P	0.49085	0.6	T	0.37009	-0.9724	9	0.62326	D	0.03	-0.0463	3.0265	0.06092	0.0977:0.3375:0.3913:0.1734	rs56148248	28	P47992	XCL1_HUMAN	H	28	ENSP00000356792:D28H	ENSP00000356792:D28H	D	+	1	0	XCL1	166815945	0.001000	0.12720	0.006000	0.13384	0.548000	0.35241	0.157000	0.16402	0.172000	0.19760	0.655000	0.94253	GAT	G|0.982;C|0.018	0.018	strong		0.433	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		C	168549321	G	C	168549321	3	2	22	1	0	0	0	0	1	0	0	0	17420	942	33	4	88	4	XCL1	1	168549321	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	535471	168549321	80701300	806	5914	121	2								
XCL1	6375	hgsc.bcm.edu	37	chr1	168549325	168549325	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggagtgaagtctcagataAgaggacctgtgtgagcctca					rs61546281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:168549325A>G	ENST00000367818.3	+	2	251	c.86A>G	c.(85-87)aAg>aGg	p.K29R		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	29					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GTCTCAGATAAGAGGACCTGT	0.443													A|||	162	0.0323482	0.1165	0.0029	5008	,	,		19121	0.001		0.005	False		,,,				2504	0.0				p.K29R		Atlas-SNP	.											.	XCL1	16	.	0			c.A86G						PASS	.	A	ARG/LYS	158,4248		35,88,2080	131	134	133		86	-0.5	0	1	dbSNP_129	133	2,8598		0,2,4298	no	missense	XCL1	NM_002995.2	26	35,90,6378	GG,GA,AA		0.0233,3.586,1.2302	benign	29/115	168549325	160,12846	2203	4300	6503	SO:0001583	missense	6375	exon2			CAGATAAGAGGAC	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.86A>G	1.37:g.168549325A>G	ENSP00000356792:p.Lys29Arg	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	170	68	0.4	NM_002995	Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	41	0.018772893772893772	35	0.07113821138211382	1	0.0027624309392265192	1	0.0017482517482517483	4	0.005277044854881266	A	4.417	0.077069	0.08485	0.03586	2.33E-4	ENSG00000143184	ENST00000367818	T	0.04809	3.55	4.36	-0.539	0.11865	Chemokine interleukin-8-like domain (3);	0.562682	0.17985	N	0.155390	T	0.00936	0.0031	N	0.26162	0.8	0.25269	N	0.989532	B	0.10296	0.003	B	0.08055	0.003	T	0.48317	-0.9046	9	0.16896	T	0.51	-0.7914	7.4105	0.27016	0.483:0.0:0.517:0.0	rs61546281	29	P47992	XCL1_HUMAN	R	29	ENSP00000356792:K29R	ENSP00000356792:K29R	K	+	2	0	XCL1	166815949	0.000000	0.05858	0.002000	0.10522	0.518000	0.34316	-0.858000	0.04281	0.011000	0.14865	0.533000	0.62120	AAG	A|0.981;G|0.019	0.019	strong		0.443	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		G	168549325	A	G	168549325	3	3	22	1	0	0	0	0	1	0	0	0	17420	72	3	3	92	3	XCL1	1	168549325	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	168549325	80701296	807	5915	121	2								
BLZF1	8548	hgsc.bcm.edu	37	chr1	169345883	169345883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccaatctagaaagcatcAtagtcttcagagtccatgga	8	9	4	2	rs112226207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169345883A>G	ENST00000367808.3	+	3	557	c.134A>G	c.(133-135)cAt>cGt	p.H45R	BLZF1_ENST00000367807.3_Missense_Mutation_p.H45R|BLZF1_ENST00000329281.2_Missense_Mutation_p.H45R			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	45					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGAAAGCATCATAGTCTTCAG	0.453													A|||	8	0.00159744	0.0053	0.0014	5008	,	,		18203	0.0		0.0	False		,,,				2504	0.0				p.H45R		Atlas-SNP	.											.	BLZF1	57	.	0			c.A134G						PASS	.	A	ARG/HIS	30,4376	36.0+/-67.5	0,30,2173	95	95	95		134	-1.9	0	1	dbSNP_132	95	0,8600		0,0,4300	yes	missense	BLZF1	NM_003666.2	29	0,30,6473	GG,GA,AA		0.0,0.6809,0.2307	benign	45/401	169345883	30,12976	2203	4300	6503	SO:0001583	missense	8548	exon3			AGCATCATAGTCT	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.134A>G	1.37:g.169345883A>G	ENSP00000356782:p.His45Arg	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	144	71	0.493056	NM_003666	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	CCDS1278.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	A	4.096	0.015897	0.07959	0.006809	0.0	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.42513	1.57;1.57;0.97;0.97;1.57	5.27	-1.89	0.07689	.	0.566329	0.20243	N	0.096258	T	0.07234	0.0183	N	0.22421	0.69	0.26193	N	0.979556	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.34279	-0.9835	9	0.09590	T	0.72	-2.9441	6.7849	0.23668	0.5046:0.3627:0.1328:0.0	.	45;45;45	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	R	45	ENSP00000356782:H45R;ENSP00000327541:H45R;ENSP00000356781:H45R;ENSP00000414668:H45R;ENSP00000404408:H45R	ENSP00000327541:H45R	H	+	2	0	BLZF1	167612507	0.001000	0.12720	0.000000	0.03702	0.695000	0.40330	0.633000	0.24598	-0.247000	0.09597	-0.389000	0.06534	CAT	A|0.997;G|0.003	0.003	strong		0.453	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		G	169345883	A	G	169345883	3	3	22	1	0	0	0	0	1	0	0	0	1453	217	8	2	140	2	BLZF1	1	169345883	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	796558	169345883	79904738	808	5916										
SLC19A2	10560	hgsc.bcm.edu	37	chr1	169446639	169446639	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatgacattcaggctgaaCagcgaccagcctgccactga	11	12	1	4	rs150548640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169446639C>A	ENST00000236137.5	-	2	797	c.561G>T	c.(559-561)ctG>ctT	p.L187L	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	187					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TCAGGCTGAACAGCGACCAGC	0.498													C|||	17	0.00339457	0.0106	0.0043	5008	,	,		19254	0.0		0.0	False		,,,				2504	0.0				p.L187L		Atlas-SNP	.											.	SLC19A2	35	.	0			c.G561T						PASS	.	C		48,4358	49.6+/-84.7	1,46,2156	57	59	58		561	-1.5	1	1	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC19A2	NM_006996.2		1,46,6456	AA,AC,CC		0.0,1.0894,0.3691		187/498	169446639	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	10560	exon2			GCTGAACAGCGAC	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.561G>T	1.37:g.169446639C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	82	50	0.609756	NM_006996	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	ENST00000236137.5	37	CCDS1280.1																																																																																			C|0.996;A|0.004	0.004	strong		0.498	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		A	169446639	C	A	169446639	2	1	22	1	0	0	0	0	0	0	0	1	14429	465	17	4		4	SLC19A2	1	169446639	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100756	169446639	79803982	809	5917										
F5	2153	hgsc.bcm.edu	37	chr1	169510380	169510380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaaatgggcatctgaccGagggctggggaaaggtttgt	18	5	1	2	rs9287090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169510380G>A	ENST00000367797.3	-	13	4149	c.3948C>T	c.(3946-3948)ctC>ctT	p.L1316L	F5_ENST00000367796.3_Silent_p.L1321L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1316	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCATCTGACCGAGGGCTGGGG	0.498													G|||	1320	0.263578	0.1717	0.3948	5008	,	,		22137	0.248		0.2535	False		,,,				2504	0.3211				p.L1316L		Atlas-SNP	.											.	F5	301	.	0			c.C3948T						PASS	.	G		821,3585	323.2+/-298.0	72,677,1454	249	273	265		3948	-4.7	0	1	dbSNP_119	265	2356,6244	393.5+/-344.4	300,1756,2244	no	coding-synonymous	F5	NM_000130.4		372,2433,3698	AA,AG,GG		27.3953,18.6337,24.4272		1316/2225	169510380	3177,9829	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			CTGACCGAGGGCT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3948C>T	1.37:g.169510380G>A		Somatic	530	1	0.00188679		WXS	Illumina HiSeq	Phase_I	611	311	0.509002	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			G|0.758;A|0.242	0.242	strong		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169510380	G	A	169510380	2	1	22	1	0	0	0	0	0	0	0	1	5348	1045	37	1		1	F5	1	169510380	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63741	169510380	79740241	810	5918										
F5	2153	hgsc.bcm.edu	37	chr1	169511734	169511734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctaccttgggtcccttaTgcttagcatgttcttgactt	7	10	2	1	rs4525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169511734T>C	ENST00000367797.3	-	13	2795	c.2594A>G	c.(2593-2595)cAt>cGt	p.H865R	F5_ENST00000367796.3_Missense_Mutation_p.H870R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	865	B.		H -> R (in dbSNP:rs4525). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11758222, ECO:0000269|PubMed:2827731, ECO:0000269|PubMed:3110773, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGTCCCTTATGCTTAGCATG	0.448													T|||	1316	0.26278	0.1679	0.3948	5008	,	,		21442	0.248		0.2535	False		,,,				2504	0.3221				p.H865R		Atlas-SNP	.											F5,NS,carcinoma,-1,1	F5	301	1	0			c.A2594G						PASS	.	T	ARG/HIS	814,3592	321.5+/-297.2	68,678,1457	193	179	184		2594	-1.1	0	1	dbSNP_52	184	2356,6244	393.9+/-344.5	300,1756,2244	yes	missense	F5	NM_000130.4	29	368,2434,3701	CC,CT,TT		27.3953,18.4748,24.3734	benign	865/2225	169511734	3170,9836	2203	4300	6503	SO:0001583	missense	2153	exon13			CCCTTATGCTTAG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2594A>G	1.37:g.169511734T>C	ENSP00000356771:p.His865Arg	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	322	158	0.490683	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	532	0.24358974358974358	96	0.1951219512195122	130	0.35911602209944754	113	0.19755244755244755	193	0.2546174142480211	T	5.461	0.270076	0.10349	0.184748	0.273953	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19806	2.12;2.12	5.72	-1.12	0.09808	.	1.326480	0.04974	N	0.464508	T	0.05181	0.0138	L	0.42245	1.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	9	0.22109	T	0.4	-5.295	5.176	0.15135	0.0:0.2234:0.2754:0.5013	rs4525;rs3186700;rs52799245;rs57691265;rs4525	865	P12259	FA5_HUMAN	R	865;870	ENSP00000356771:H865R;ENSP00000356770:H870R	ENSP00000356770:H870R	H	-	2	0	F5	167778358	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.167000	0.09940	-0.449000	0.07117	-0.351000	0.07748	CAT	T|0.758;C|0.242	0.242	strong		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169511734	T	C	169511734	3	2	22	1	0	0	0	0	1	0	0	0	5348	1464	51	2	4132	2	F5	1	169511734	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1354	169511734	79738887	811	5919										
F5	2153	hgsc.bcm.edu	37	chr1	169511755	169511755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttagcatgttcttgacttTtgaattctccagcaccaagt	7	10	2	2	rs4524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169511755T>C	ENST00000367797.3	-	13	2774	c.2573A>G	c.(2572-2574)aAa>aGa	p.K858R	F5_ENST00000367796.3_Missense_Mutation_p.K863R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	858	B.		K -> R (in dbSNP:rs4524). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11758222, ECO:0000269|PubMed:2827731, ECO:0000269|PubMed:3110773, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCTTGACTTTTGAATTCTCC	0.453													T|||	1336	0.266773	0.1679	0.3948	5008	,	,		21468	0.248		0.2535	False		,,,				2504	0.3425				p.K858R		Atlas-SNP	.											.	F5	301	.	0			c.A2573G						PASS	.	T	ARG/LYS	813,3593	321.3+/-297.0	68,677,1458	187	175	179		2573	-1.7	0	1	dbSNP_52	179	2355,6245	393.6+/-344.4	300,1755,2245	yes	missense	F5	NM_000130.4	26	368,2432,3703	CC,CT,TT		27.3837,18.4521,24.358	benign	858/2225	169511755	3168,9838	2203	4300	6503	SO:0001583	missense	2153	exon13			TGACTTTTGAATT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2573A>G	1.37:g.169511755T>C	ENSP00000356771:p.Lys858Arg	Somatic	231	1	0.004329		WXS	Illumina HiSeq	Phase_I	290	147	0.506897	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	532	0.24358974358974358	96	0.1951219512195122	130	0.35911602209944754	113	0.19755244755244755	193	0.2546174142480211	T	0.281	-0.986145	0.02180	0.184521	0.273837	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19105	2.17;2.17	5.34	-1.7	0.08159	.	0.830320	0.10778	N	0.635169	T	0.01523	0.0049	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47711	-0.9096	9	0.15499	T	0.54	-3.9453	5.1617	0.15064	0.0:0.3402:0.1552:0.5046	rs4524;rs52817149;rs59950571;rs4524	858	P12259	FA5_HUMAN	R	858;863	ENSP00000356771:K858R;ENSP00000356770:K863R	ENSP00000356770:K863R	K	-	2	0	F5	167778379	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.454000	0.06770	-0.097000	0.12307	-1.534000	0.00916	AAA	T|0.760;C|0.240	0.240	strong		0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169511755	T	C	169511755	3	2	22	1	0	0	0	0	1	0	0	0	5348	1841	64	2	4153	2	F5	1	169511755	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	169511755	79738866	812	5920										
F5	2153	hgsc.bcm.edu	37	chr1	169512027	169512027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaacaattatatctgtgttTgaagaaacgaattcagtgcc	7	8	2	2	rs6021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169512027T>C	ENST00000367797.3	-	13	2502	c.2301A>G	c.(2299-2301)tcA>tcG	p.S767S	F5_ENST00000367796.3_Silent_p.S772S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	767	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATCTGTGTTTGAAGAAACGA	0.393													C|||	1316	0.26278	0.1679	0.3948	5008	,	,		21933	0.248		0.2535	False		,,,				2504	0.3221				p.S767S		Atlas-SNP	.											.	F5	301	.	0			c.A2301G						PASS	.	C		813,3593	750.9+/-412.2	68,677,1458	165	159	161		2301	0.8	0	1	dbSNP_52	161	2355,6245	702.6+/-405.3	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2434,3702	CC,CT,TT		27.3837,18.4521,24.358		767/2225	169512027	3168,9838	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TGTGTTTGAAGAA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2301A>G	1.37:g.169512027T>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	123	59	0.479675	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			T|0.763;C|0.237	0.237	strong		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169512027	T	C	169512027	2	2	22	1	0	0	0	0	0	0	0	1	5348	1799	63	2		2	F5	1	169512027	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	272	169512027	79738594	813	5921										
F5	2153	hgsc.bcm.edu	37	chr1	169512093	169512093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaactcttcttcttcctgAttcaatgatgagtttcggaa	7	8	4	4	rs6017	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169512093A>G	ENST00000367797.3	-	13	2436	c.2235T>C	c.(2233-2235)aaT>aaC	p.N745N	F5_ENST00000367796.3_Silent_p.N750N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	745	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTTCTTCCTGATTCAATGATG	0.393													A|||	1316	0.26278	0.1679	0.3948	5008	,	,		21864	0.248		0.2535	False		,,,				2504	0.3221				p.N745N		Atlas-SNP	.											.	F5	301	.	0			c.T2235C						PASS	.	A		812,3594	320.7+/-296.8	68,676,1459	216	202	206		2235	-1.3	0	1	dbSNP_52	206	2355,6245	393.9+/-344.5	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2433,3703	GG,GA,AA		27.3837,18.4294,24.3503		745/2225	169512093	3167,9839	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TTCCTGATTCAAT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2235T>C	1.37:g.169512093A>G		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	141	68	0.482269	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			A|0.760;G|0.240	0.240	strong		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169512093	A	G	169512093	2	3	22	1	0	0	0	0	0	0	0	1	5348	330	12	2		2	F5	1	169512093	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66	169512093	79738528	814	5922										
F5	2153	hgsc.bcm.edu	37	chr1	169512120	169512120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagtttcggaatgacctGattcctaatgctgcagccag	11	9	0	3	rs6016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169512120G>A	ENST00000367797.3	-	13	2409	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	F5_ENST00000367796.3_Silent_p.I741I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	736	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGAATGACCTGATTCCTAATG	0.428													A|||	1316	0.26278	0.1679	0.3948	5008	,	,		20914	0.248		0.2535	False		,,,				2504	0.3221				p.I736I		Atlas-SNP	.											.	F5	301	.	0			c.C2208T						PASS	.	A		813,3593	750.9+/-412.2	68,677,1458	227	210	216		2208	-2.7	0.9	1	dbSNP_52	216	2355,6245	702.8+/-405.3	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2434,3702	AA,AG,GG		27.3837,18.4521,24.358		736/2225	169512120	3168,9838	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TGACCTGATTCCT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2208C>T	1.37:g.169512120G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	157	75	0.477707	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			G|0.758;A|0.242	0.242	strong		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169512120	G	A	169512120	2	1	22	1	0	0	0	0	0	0	0	1	5348	1280	45	2		2	F5	1	169512120	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	169512120	79738501	815	5923										
F5	2153	hgsc.bcm.edu	37	chr1	169519112	169519112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagcccagaggcgatgtctCtcatgatgtccacgtcactg	10	12	3	2	rs6020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169519112C>T	ENST00000367797.3	-	10	1739	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K	F5_ENST00000367796.3_Missense_Mutation_p.R513K|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	513	F5/8 type A 2.|Plastocyanin-like 3.		R -> K (in dbSNP:rs6020). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9454741, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCGATGTCTCTCATGATGTC	0.423													C|||	1320	0.263578	0.3238	0.1052	5008	,	,		15771	0.627		0.0239	False		,,,				2504	0.1667				p.R513K		Atlas-SNP	.											.	F5	301	.	0			c.G1538A	GRCh37	CM980660	F5	M	rs6020	PASS	.	C	LYS/ARG	1183,3223	414.6+/-336.9	189,805,1209	200	180	187		1538	5.7	1	1	dbSNP_52	187	93,8507	52.3+/-112.8	2,89,4209	yes	missense	F5	NM_000130.4	26	191,894,5418	TT,TC,CC		1.0814,26.8498,9.8109	benign	513/2225	169519112	1276,11730	2203	4300	6503	SO:0001583	missense	2153	exon10			ATGTCTCTCATGA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1538G>A	1.37:g.169519112C>T	ENSP00000356771:p.Arg513Lys	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	192	88	0.458333	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	577	0.2641941391941392	142	0.2886178861788618	31	0.0856353591160221	384	0.6713286713286714	20	0.026385224274406333	C	20.2	3.942248	0.73672	0.268498	0.010814	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98914	-5.23;-5.23	5.71	5.71	0.89125	Cupredoxin (2);	0.053031	0.85682	D	0.000000	D	0.94915	0.8356	L	0.31845	0.965	0.38750	P	0.04590799999999995	P	0.48503	0.911	B	0.42282	0.382	D	0.94162	0.7415	9	0.27082	T	0.32	-13.5561	13.0952	0.59188	0.0:0.9267:0.0:0.0733	rs6020;rs56575896;rs6020	513	P12259	FA5_HUMAN	K	513	ENSP00000356771:R513K;ENSP00000356770:R513K	ENSP00000356770:R513K	R	-	2	0	F5	167785736	0.958000	0.32768	0.976000	0.42696	0.943000	0.58893	3.068000	0.50018	2.697000	0.92050	0.655000	0.94253	AGA	C|0.805;T|0.195	0.195	strong		0.423	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169519112	C	T	169519112	3	4	22	1	0	0	0	0	1	0	0	0	5348	913	32	2	5200	2	F5	1	169519112	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6992	169519112	79731509	816	5924										
F5	2153	hgsc.bcm.edu	37	chr1	169529826	169529826	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaggggcccaatcagcccCgagttgaaatcctcgatcag	11	13	2	1	rs6022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169529826C>A	ENST00000367797.3	-	4	753	c.552G>T	c.(550-552)tcG>tcT	p.S184S	F5_ENST00000367796.3_Silent_p.S184S|F5_ENST00000546081.1_Silent_p.S47S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	184	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAATCAGCCCCGAGTTGAAAT	0.468													A|||	2092	0.417732	0.6543	0.2911	5008	,	,		17222	0.6647		0.1819	False		,,,				2504	0.1759				p.S184S		Atlas-SNP	.											.	F5	301	.	0			c.G552T						PASS	.	A		2531,1875	539.3+/-375.2	737,1057,409	125	122	123		552	-1.7	1	1	dbSNP_52	123	1517,7083	748.0+/-407.3	132,1253,2915	no	coding-synonymous	F5	NM_000130.4		869,2310,3324	AA,AC,CC		17.6395,42.5556,31.1241		184/2225	169529826	4048,8958	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon4			CAGCCCCGAGTTG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.552G>T	1.37:g.169529826C>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	195	194	0.994872	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			C|0.638;A|0.362	0.362	strong		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169529826	C	A	169529826	2	1	22	1	0	0	0	0	0	0	0	1	5348	639	23	4		4	F5	1	169529826	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10714	169529826	79720795	817	5925										
F5	2153	hgsc.bcm.edu	37	chr1	169529973	169529973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcgtcgtccatcttctcCgcagggaatgtgtggtcaag	12	11	3	0	rs6029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169529973C>T	ENST00000367797.3	-	4	606	c.405G>A	c.(403-405)gcG>gcA	p.A135A	F5_ENST00000367796.3_Silent_p.A135A|F5_ENST00000546081.1_5'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	135	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCATCTTCTCCGCAGGGAATG	0.522													C|||	1997	0.398762	0.584	0.2882	5008	,	,		16887	0.6647		0.1819	False		,,,				2504	0.1759				p.A135A		Atlas-SNP	.											.	F5	301	.	0			c.G405A						PASS	.	C		2249,2157	596.6+/-388.7	572,1105,526	133	111	119		405	-3.1	0	1	dbSNP_52	119	1517,7083	285.9+/-297.4	132,1253,2915	no	coding-synonymous	F5	NM_000130.4		704,2358,3441	TT,TC,CC		17.6395,48.956,28.9559		135/2225	169529973	3766,9240	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon4			CTTCTCCGCAGGG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.405G>A	1.37:g.169529973C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	160	80	0.5	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			C|0.653;T|0.347	0.347	strong		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169529973	C	T	169529973	2	4	22	1	0	0	0	0	0	0	0	1	5348	639	23	1		1	F5	1	169529973	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147	169529973	79720648	818	5926										
SELP	6403	hgsc.bcm.edu	37	chr1	169562904	169562904	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccattatcagacctatCgtagaagccaccgctccacc	5	18	1	2	rs6128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169562904C>T	ENST00000263686.6	-	14	2383	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	SELP_ENST00000367788.2_Silent_p.T720T|SELP_ENST00000367786.2_Silent_p.T720T|SELP_ENST00000367794.2_Silent_p.T720T|SELP_ENST00000367792.2_Silent_p.T598T|SELP_ENST00000367791.2_Silent_p.T596T|SELP_ENST00000458599.2_Silent_p.T598T|SELP_ENST00000367793.2_Silent_p.T720T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	782					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGACCTATCGTAGAAGCCA	0.443													C|||	1897	0.378794	0.5325	0.2767	5008	,	,		17543	0.6647		0.166	False		,,,				2504	0.1677				p.T782T		Atlas-SNP	.											SELP,NS,carcinoma,-1,2	SELP	132	2	0			c.G2346A						PASS	.	C		2092,2314	574.3+/-383.7	505,1082,616	72	68	70		2346	-4.4	0	1	dbSNP_52	70	1375,7225	266.5+/-286.8	103,1169,3028	no	coding-synonymous	SELP	NM_003005.3		608,2251,3644	TT,TC,CC		15.9884,47.4807,26.6569		782/831	169562904	3467,9539	2203	4300	6503	SO:0001819	synonymous_variant	6403	exon14			ACCTATCGTAGAA	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2346G>A	1.37:g.169562904C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	103	45	0.436893	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1	836	0.38278388278388276	252	0.5121951219512195	100	0.27624309392265195	367	0.6416083916083916	117	0.15435356200527706	C	0.040	-1.290092	0.01387	0.474807	0.159884	ENSG00000174175	ENST00000446728	.	.	.	5.62	-4.44	0.03557	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33266	-0.9875	3	.	.	.	1.149	1.6588	0.02787	0.131:0.3144:0.2699:0.2847	rs6128;rs59265639;rs6128	.	.	.	N	598	.	.	D	-	1	0	SELP	167829528	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.164000	0.03135	-0.849000	0.04158	-1.111000	0.02071	GAT	C|0.687;T|0.313	0.313	strong		0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169562904	C	T	169562904	2	4	22	1	0	0	0	0	0	0	0	1	14019	871	31	1		1	SELP	1	169562904	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32931	169562904	79687717	819	5927										
SELP	6403	hgsc.bcm.edu	37	chr1	169566308	169566308	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccctccagcttaaagccGttgtcacaagagaaatggca					rs6132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169566308G>A	ENST00000263686.6	-	11	1849	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	SELP_ENST00000367788.2_Silent_p.N542N|SELP_ENST00000367786.2_Silent_p.N542N|SELP_ENST00000367794.2_Silent_p.N542N|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Silent_p.N542N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	604	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCTTAAAGCCGTTGTCACAAG	0.488													c|||	1097	0.21905	0.6589	0.1268	5008	,	,		16240	0.002		0.1193	False		,,,				2504	0.0164				p.N604N		Atlas-SNP	.											.	SELP	132	.	0			c.C1812T						PASS	.	T		2421,1985		680,1061,462	70	74	73		1812	-1.1	0	1	dbSNP_52	73	1005,7595		45,915,3340	no	coding-synonymous	SELP	NM_003005.3		725,1976,3802	AA,AG,GG		11.686,45.0522,26.3417		604/831	169566308	3426,9580	2203	4300	6503	SO:0001819	synonymous_variant	6403	exon11			AAAGCCGTTGTCA	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1812C>T	1.37:g.169566308G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	198	92	0.464646	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1																																																																																			G|0.764;A|0.236	0.236	strong		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		A	169566308	G	A	169566308	2	1	22	1	0	0	0	0	0	0	0	1	14019	1136	40	1		1	SELP	1	169566308	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3404	169566308	79684313	820	5928	122	2								
SELP	6403	hgsc.bcm.edu	37	chr1	169566313	169566313	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagcttaaagccgttgtCacaagagaaatggcaggtgg					rs6127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169566313C>T	ENST00000263686.6	-	11	1844	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.D541N|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.D541N|SELP_ENST00000367794.2_Missense_Mutation_p.D541N|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.D541N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	603	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.		D -> N (in dbSNP:rs6127). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:2466574, ECO:0000269|PubMed:9668170, ECO:0000269|Ref.2}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAGCCGTTGTCACAAGAGAAA	0.488													T|||	3760	0.750799	0.8729	0.7003	5008	,	,		16183	0.9573		0.5905	False		,,,				2504	0.5736				p.D603N		Atlas-SNP	.											.	SELP	132	.	0			c.G1807A						PASS	.	T	ASN/ASP	3593,813	322.1+/-297.4	1483,627,93	70	73	72		1807	-1.8	0	1	dbSNP_52	72	4802,3798	537.9+/-383.3	1332,2138,830	yes	missense	SELP	NM_003005.3	23	2815,2765,923	TT,TC,CC		44.1628,18.4521,35.4529	benign	603/831	169566313	8395,4611	2203	4300	6503	SO:0001583	missense	6403	exon11			CGTTGTCACAAGA	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1807G>A	1.37:g.169566313C>T	ENSP00000263686:p.Asp603Asn	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	190	190	1	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	1642	0.7518315018315018	411	0.8353658536585366	254	0.7016574585635359	545	0.9527972027972028	432	0.5699208443271768	T	0.033	-1.325092	0.01309	0.815479	0.558372	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.13	-1.76	0.08006	Complement control module (2);Sushi/SCR/CCP (3);	0.773311	0.11700	N	0.538069	T	0.09730	0.0239	N	0.03016	-0.435	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18871	-1.0323	9	0.07325	T	0.83	-2.9349	5.7018	0.17887	0.1435:0.4348:0.0:0.4217	rs6127;rs6127	603;603	P16109;G3V1U2	LYAM3_HUMAN;.	N	603;602;603;603;541;541;541;541;526	ENSP00000263686:D603N;ENSP00000356767:D541N;ENSP00000356768:D541N;ENSP00000356762:D541N;ENSP00000356760:D541N	ENSP00000263686:D603N	D	-	1	0	SELP	167832937	0.000000	0.05858	0.010000	0.14722	0.320000	0.28249	-0.666000	0.05280	-0.262000	0.09392	-0.269000	0.10298	GAC	C|0.306;T|0.694	0.694	strong		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169566313	C	T	169566313	3	4	22	1	0	0	0	0	1	0	0	0	14019	826	29	2	709	2	SELP	1	169566313	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	169566313	79684308	821	5929	122	2								
SELP	6403	hgsc.bcm.edu	37	chr1	169566326	169566326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgttgtcacaagagaaatgGcaggtggagccaacattgaa	12	8	1	2	rs6135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169566326G>A	ENST00000263686.6	-	11	1831	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	SELP_ENST00000367788.2_Silent_p.C536C|SELP_ENST00000367786.2_Silent_p.C536C|SELP_ENST00000367794.2_Silent_p.C536C|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Silent_p.C536C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	598	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAGAGAAATGGCAGGTGGAGC	0.502													G|||	1098	0.219249	0.6589	0.1268	5008	,	,		15867	0.002		0.1203	False		,,,				2504	0.0164				p.C598C		Atlas-SNP	.											.	SELP	132	.	0			c.C1794T						PASS	.	G		2425,1981	619.6+/-393.4	680,1065,458	67	70	69		1794	0	0.8	1	dbSNP_52	69	1004,7596	215.2+/-254.6	45,914,3341	no	coding-synonymous	SELP	NM_003005.3		725,1979,3799	AA,AG,GG		11.6744,44.9614,26.3648		598/831	169566326	3429,9577	2203	4300	6503	SO:0001819	synonymous_variant	6403	exon11			GAAATGGCAGGTG	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1794C>T	1.37:g.169566326G>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	187	81	0.433155	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1																																																																																			G|0.774;A|0.226	0.226	strong		0.502	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		A	169566326	G	A	169566326	2	1	22	1	0	0	0	0	0	0	0	1	14019	1195	42	2		2	SELP	1	169566326	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13	169566326	79684295	822	5930										
SELP	6403	hgsc.bcm.edu	37	chr1	169580885	169580885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtccatggttccttcaCtgggggcttccaggtgctga	12	12	1	1	rs6131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169580885C>T	ENST00000263686.6	-	7	1029	c.992G>A	c.(991-993)aGt>aAt	p.S331N	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.S269N|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.S269N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	331	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.		S -> N (in dbSNP:rs6131). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:9668170, ECO:0000269|Ref.2}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGTTCCTTCACTGGGGGCTTC	0.512													T|||	1197	0.239018	0.3389	0.1412	5008	,	,		20808	0.2024		0.1859	False		,,,				2504	0.2658				p.S331N		Atlas-SNP	.											.	SELP	132	.	0			c.G992A	GRCh37	CM055538	SELP	M	rs6131	PASS	.	T	ASN/SER	1336,3070	694.5+/-405.8	194,948,1061	109	109	109		992	-4.5	0	1	dbSNP_52	109	1618,6982	742.6+/-407.2	154,1310,2836	yes	missense	SELP	NM_003005.3	46	348,2258,3897	TT,TC,CC		18.814,30.3223,22.7126	benign	331/831	169580885	2954,10052	2203	4300	6503	SO:0001583	missense	6403	exon7			CCTTCACTGGGGG	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.992G>A	1.37:g.169580885C>T	ENSP00000263686:p.Ser331Asn	Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	146	144	0.986301	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	467	0.21382783882783882	150	0.3048780487804878	66	0.18232044198895028	106	0.1853146853146853	145	0.19129287598944592	T	6.193	0.403756	0.11754	0.303223	0.18814	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	T;T;T	0.73897	-0.79;1.84;1.84	4.9	-4.53	0.03462	Complement control module (2);Sushi/SCR/CCP (2);	1.893840	0.02037	N	0.049019	T	0.34135	0.0887	L	0.41124	1.26	0.80722	P	0.0	B;B;B	0.14438	0.01;0.006;0.002	B;B;B	0.15052	0.012;0.008;0.003	T	0.10683	-1.0619	9	0.18710	T	0.47	4.4267	1.6575	0.02785	0.1151:0.2666:0.2292:0.3892	rs6131;rs17845837;rs17858806;rs58906495;rs6131	331;331;331	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	N	331;330;331;331;269;269	ENSP00000263686:S331N;ENSP00000356767:S269N;ENSP00000356762:S269N	ENSP00000263686:S331N	S	-	2	0	SELP	167847509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.365000	0.01079	-1.171000	0.02765	-0.723000	0.03601	AGT	C|0.778;T|0.221	0.221	strong		0.512	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169580885	C	T	169580885	3	4	22	1	0	0	0	0	1	0	0	0	14019	565	20	2	1540	2	SELP	1	169580885	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14559	169580885	79669736	823	5931										
SELE	6401	hgsc.bcm.edu	37	chr1	169697218	169697218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcacatgtgggcttctcGttgtcccactcccctgtggg	10	15	2	0	rs5365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169697218G>A	ENST00000333360.7	-	8	1399	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	SELE_ENST00000367777.1_Silent_p.N420N|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367782.4_Silent_p.N420N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	420	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TGGGCTTCTCGTTGTCCCACT	0.448													G|||	101	0.0201677	0.0756	0.0014	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.0				p.N420N		Atlas-SNP	.											.	SELE	84	.	0			c.C1260T						PASS	.	G		284,4122	157.0+/-190.0	5,274,1924	96	109	104		1260	-10.5	0	1	dbSNP_52	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SELE	NM_000450.2		5,276,6222	AA,AG,GG		0.0233,6.4458,2.199		420/611	169697218	286,12720	2203	4300	6503	SO:0001819	synonymous_variant	6401	exon8			CTTCTCGTTGTCC	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1260C>T	1.37:g.169697218G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_000450	A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	CCDS1283.1																																																																																			G|0.982;A|0.018	0.018	strong		0.448	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169697218	G	A	169697218	2	1	22	1	0	0	0	0	0	0	0	1	14013	1136	40	1		1	SELE	1	169697218	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	116333	169697218	79553403	824	5932										
C1orf156	92342	hgsc.bcm.edu	37	chr1	169762807	169762807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattcattttccagatggtcTtctatagtgaaattaaactg	6	6	3	2	rs10489177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169762807T>G	ENST00000310392.4	-	2	383	c.30A>C	c.(28-30)gaA>gaC	p.E10D	C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000456684.1_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.E10D	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	10			E -> D (in dbSNP:rs10489177).			cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						CCAGATGGTCTTCTATAGTGA	0.358													T|||	1093	0.218251	0.2693	0.196	5008	,	,		17838	0.1657		0.164	False		,,,				2504	0.2751				p.E10D		Atlas-SNP	.											.	METTL18	23	.	0			c.A30C						PASS	.	T	ASP/GLU	1042,3364	382.3+/-324.4	138,766,1299	59	61	60		30	3	0.9	1	dbSNP_119	60	1353,7247	262.7+/-284.6	112,1129,3059	yes	missense	METTL18	NM_033418.1	45	250,1895,4358	GG,GT,TT		15.7326,23.6496,18.4146	benign	10/373	169762807	2395,10611	2203	4300	6503	SO:0001583	missense	92342	exon2			ATGGTCTTCTATA	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.30A>C	1.37:g.169762807T>G	ENSP00000307975:p.Glu10Asp	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	146	73	0.5	NM_033418	B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	CCDS1284.1	429	0.19642857142857142	146	0.2967479674796748	69	0.19060773480662985	92	0.16083916083916083	122	0.16094986807387862	T	11.11	1.543705	0.27563	0.236496	0.157326	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.46063	2.48;2.48;0.88	5.45	3.01	0.34805	.	0.342769	0.23636	N	0.046072	T	0.16896	0.0406	L	0.50333	1.59	0.49389	P	2.1199999999998997E-4	B	0.12630	0.006	B	0.09377	0.004	T	0.05835	-1.0861	9	0.25751	T	0.34	1.9184	7.8622	0.29516	0.1337:0.0:0.1377:0.7286	rs10489177;rs12753424;rs16862688;rs52790921;rs57618261;rs10489177	10	O95568	MET18_HUMAN	D	10	ENSP00000307975:E10D;ENSP00000307077:E10D;ENSP00000402305:E10D	ENSP00000307077:E10D	E	-	3	2	METTL18	168029431	0.935000	0.31712	0.911000	0.35937	0.965000	0.64279	0.092000	0.15066	2.072000	0.62099	0.459000	0.35465	GAA	T|0.802;G|0.198	0.198	strong		0.358	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		G	169762807	T	G	169762807	3	3	22	1	0	0	0	0	1	0	0	0	2006	1606	56	5	1092	5	C1orf156	1	169762807	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65589	169762807	79487814	825	5933										
C1orf112	55732	hgsc.bcm.edu	37	chr1	169796197	169796197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctcccttcccagcaagtTtcctccaagcctttatgcta	4	16	1	0	rs142988055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169796197T>C	ENST00000286031.6	+	11	1554	c.854T>C	c.(853-855)tTt>tCt	p.F285S	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.F285S|C1orf112_ENST00000413811.2_Missense_Mutation_p.F256S	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	285										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCAGCAAGTTTCCTCCAAGC	0.388													T|||	89	0.0177716	0.0658	0.0029	5008	,	,		14059	0.0		0.0	False		,,,				2504	0.0				p.F285S		Atlas-SNP	.											.	C1orf112	74	.	0			c.T854C						PASS	.	T	SER/PHE	258,4148	144.2+/-179.2	8,242,1953	87	87	87		854	5	1	1	dbSNP_134	87	0,8600		0,0,4300	yes	missense	C1orf112	NM_018186.2	155	8,242,6253	CC,CT,TT		0.0,5.8557,1.9837	probably-damaging	285/854	169796197	258,12748	2203	4300	6503	SO:0001583	missense	55732	exon11			GCAAGTTTCCTCC	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.854T>C	1.37:g.169796197T>C	ENSP00000286031:p.Phe285Ser	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	242	125	0.516529	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	T	18.57	3.652833	0.67472	0.058557	0.0	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000286031	T;T;T	0.58210	0.35;0.35;0.35	5.04	5.04	0.67666	.	0.088478	0.85682	D	0.000000	T	0.64034	0.2562	M	0.78637	2.42	0.46011	D	0.998815	D;P;D	0.61080	0.979;0.91;0.989	P;P;D	0.66084	0.776;0.821;0.941	T	0.70317	-0.4905	10	0.72032	D	0.01	-12.7977	13.0228	0.58799	0.0:0.0:0.0:1.0	.	256;227;285	B4E0A9;B4DGF2;Q9NSG2	.;.;CA112_HUMAN	S	256;285;285	ENSP00000389257:F256S;ENSP00000352276:F285S;ENSP00000286031:F285S	ENSP00000286031:F285S	F	+	2	0	C1orf112	168062821	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.338000	0.52128	2.002000	0.58637	0.528000	0.53228	TTT	T|0.984;C|0.016	0.016	strong		0.388	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		C	169796197	T	C	169796197	3	2	22	1	0	0	0	0	1	0	0	0	1985	1841	64	2	888	2	C1orf112	1	169796197	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33390	169796197	79454424	826	5934										
C1orf112	55732	hgsc.bcm.edu	37	chr1	169796859	169796859	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattacatgtaagacctgccAtgtgaactgcagtttccaca	7	10	0	2	rs149832132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:169796859A>C	ENST00000286031.6	+	12	1705	c.1005A>C	c.(1003-1005)ccA>ccC	p.P335P	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000359326.4_Silent_p.P335P	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	335										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGACCTGCCATGTGAACTGC	0.398													A|||	14	0.00279553	0.0106	0.0	5008	,	,		19847	0.0		0.0	False		,,,				2504	0.0				p.P335P		Atlas-SNP	.											.	C1orf112	74	.	0			c.A1005C						PASS	.	A		42,4364	45.3+/-79.5	0,42,2161	348	345	346		1005	-10.8	0	1	dbSNP_134	346	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf112	NM_018186.2		0,43,6460	CC,CA,AA		0.0116,0.9532,0.3306		335/854	169796859	43,12963	2203	4300	6503	SO:0001819	synonymous_variant	55732	exon12			CCTGCCATGTGAA	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1005A>C	1.37:g.169796859A>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	76	26	0.342105	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	CCDS1285.1																																																																																			A|0.997;C|0.003	0.003	strong		0.398	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		C	169796859	A	C	169796859	2	2	22	1	0	0	0	0	0	0	0	1	1985	204	8	5		5	C1orf112	1	169796859	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	662	169796859	79453762	827	5935										
C1orf129	80133	hgsc.bcm.edu	37	chr1	170965681	170965681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgagagttctgctgaaTtgttctggactgcaacaggt	12	9	2	2	rs9427213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:170965681T>C	ENST00000367758.3	+	14	1470	c.1371T>C	c.(1369-1371)aaT>aaC	p.N457N	MROH9_ENST00000367759.4_Silent_p.N457N	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	457																	TTCTGCTGAATTGTTCTGGAC	0.413													T|||	626	0.125	0.2405	0.1369	5008	,	,		18557	0.0		0.1382	False		,,,				2504	0.0757				p.N457N		Atlas-SNP	.											.	.	.	.	0			c.T1371C						PASS	.	T	,	764,2988		86,592,1198	153	147	149		1371,1371	-0.6	0.9	1	dbSNP_119	149	951,7273		57,837,3218	no	coding-synonymous,coding-synonymous	C1orf129	NM_001163629.1,NM_025063.2	,	143,1429,4416	CC,CT,TT		11.5637,20.3625,14.3203	,	457/862,457/574	170965681	1715,10261	1876	4112	5988	SO:0001819	synonymous_variant	80133	exon14			GCTGAATTGTTCT	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1371T>C	1.37:g.170965681T>C		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	233	110	0.472103	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																			T|0.882;C|0.118	0.118	strong		0.413	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		C	170965681	T	C	170965681	2	2	22	1	0	0	0	0	0	0	0	1	1996	1490	52	2		2	C1orf129	1	170965681	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1168822	170965681	78284940	828	5936										
FMO3	2328	hgsc.bcm.edu	37	chr1	171076888	171076888	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatgttaccactgaaaggGatggtaaaaaagaatcggct	13	5	0	2	rs12072582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171076888G>C	ENST00000367755.4	+	4	505	c.394G>C	c.(394-396)Gat>Cat	p.D132H	FMO3_ENST00000392085.2_Missense_Mutation_p.D132H|FMO3_ENST00000538429.1_Missense_Mutation_p.D69H|FMO3_ENST00000542847.1_Missense_Mutation_p.D112H	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	132			D -> H (in dbSNP:rs12072582). {ECO:0000269|PubMed:12527699, ECO:0000269|Ref.4}.		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)	CACTGAAAGGGATGGTAAAAA	0.413													G|||	73	0.0145767	0.0522	0.0058	5008	,	,		15662	0.0		0.0	False		,,,				2504	0.0				p.D132H		Atlas-SNP	.											.	FMO3	73	.	0			c.G394C	GRCh37	CM033905	FMO3	M	rs12072582	PASS	.	G	HIS/ASP,HIS/ASP	176,4230	113.8+/-151.8	2,172,2029	132	133	133		394,394	-2.1	0	1	dbSNP_120	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	FMO3	NM_001002294.2,NM_006894.5	81,81	2,173,6328	CC,CG,GG		0.0116,3.9946,1.3609	benign,benign	132/533,132/533	171076888	177,12829	2203	4300	6503	SO:0001583	missense	2328	exon4			GAAAGGGATGGTA	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.394G>C	1.37:g.171076888G>C	ENSP00000356729:p.Asp132His	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	189	73	0.386243	NM_006894	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	23	0.010531135531135532	20	0.04065040650406504	3	0.008287292817679558	0	0.0	0	0.0	G	8.560	0.877541	0.17395	0.039946	1.16E-4	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.84	-2.13	0.07144	.	0.100095	0.64402	N	0.000003	T	0.26085	0.0636	M	0.65677	2.01	0.34737	D	0.730401	B;B;B	0.26512	0.151;0.09;0.036	B;B;B	0.31245	0.126;0.069;0.078	T	0.02588	-1.1137	10	0.49607	T	0.09	-2.9075	3.4783	0.07593	0.1388:0.3402:0.4052:0.1158	rs12072582;rs52790216;rs58199544;rs12072582	69;112;132	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	H	132;132;112;69	ENSP00000356729:D132H;ENSP00000375935:D132H;ENSP00000444073:D112H;ENSP00000439500:D69H	ENSP00000356729:D132H	D	+	1	0	FMO3	169343512	0.005000	0.15991	0.035000	0.18076	0.054000	0.15201	0.421000	0.21280	-0.407000	0.07576	0.591000	0.81541	GAT	G|0.983;C|0.017	0.017	strong		0.413	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		C	171076888	G	C	171076888	3	2	22	1	0	0	0	0	1	0	0	0	5956	1174	41	4	404	4	FMO3	1	171076888	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111207	171076888	78173733	829	5937										
FMO2	2327	hgsc.bcm.edu	37	chr1	171162551	171162552	+	In_Frame_Ins	INS	-	-	GAC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaatgtcctgtttcagtINSgactttccaatgcctgaaga					rs2020868|rs397844260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171162551_171162552insGAC	ENST00000209929.7	+	3	368_369	c.210_211insGAC	c.(211-213)gac>GACgac	p.71_71D>DD	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_In_Frame_Ins_p.71_71D>DD			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	71					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTGTTTCAGTGACTTTCCAAT	0.342														516	0.103035	0.298	0.0476	5008	,	,		17166	0.002		0.0447	False		,,,				2504	0.0429				p.S70delinsSD		Pindel,Atlas-Indel	.											.	FMO2	66	.	0			c.210_211insGAC						PASS	.			1054,3212		148,758,1227						4.3	1		dbSNP_98	103	398,7856		12,374,3741	no	coding	FMO2	NM_001460.2		160,1132,4968	A1A1,A1R,RR		4.8219,24.707,11.5974				1452,11068				SO:0001652	inframe_insertion	2327	exon3			.	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.211_213dupGAC	1.37:g.171162552_171162554dupGAC	ENSP00000209929:p.Asp71dup	Somatic	76	.	.		WXS	Illumina HiSeq	Phase_I	58	19	0.328	NM_001460	Q53XR0	In_Frame_Ins	INS	ENST00000209929.7	37	CCDS1293.1																																																																																			-|0.904;GAC|0.096	0.096	strong		0.342	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		GAC	171162552	-	GAC	171162551	7	5	22	1	0	1	1	0	0	0	0	0	5955	1693	59	0	216	0	FMO2	1	171162551	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	85663	171162551	78088070	830	5938										
FMO2	2327	hgsc.bcm.edu	37	chr1	171162583	171162583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgaagattttccaaactTcctgcataattctaaacttc	4	11	1	2	rs2020860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171162583T>C	ENST00000209929.7	+	3	400	c.242T>C	c.(241-243)tTc>tCc	p.F81S	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Missense_Mutation_p.F81S			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	81					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTCCAAACTTCCTGCATAAT	0.353													T|||	516	0.103035	0.298	0.0476	5008	,	,		16096	0.002		0.0447	False		,,,				2504	0.0429				p.F81S		Atlas-SNP	.											FMO2,colon,carcinoma,+1,1	FMO2	66	1	0			c.T242C						PASS	.	T	SER/PHE	1075,3331	373.0+/-320.6	151,773,1279	75	76	75		242	5.4	1	1	dbSNP_98	75	409,8191	123.1+/-182.0	13,383,3904	yes	missense	FMO2	NM_001460.2	155	164,1156,5183	CC,CT,TT		4.7558,24.3985,11.4101	probably-damaging	81/472	171162583	1484,11522	2203	4300	6503	SO:0001583	missense	2327	exon3			CAAACTTCCTGCA	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.242T>C	1.37:g.171162583T>C	ENSP00000209929:p.Phe81Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	24	0.436364	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	205	0.09386446886446886	156	0.3170731707317073	18	0.049723756906077346	0	0.0	31	0.040897097625329816	T	22.7	4.324261	0.81580	0.243985	0.047558	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.60920	0.15;0.15	5.44	5.44	0.79542	.	0.172296	0.53938	D	0.000041	T	0.81754	0.4889	H	0.97265	3.97	0.23834	P	0.99671674	D	0.76494	0.999	D	0.78314	0.991	D	0.88765	0.3260	9	0.87932	D	0	-14.2724	15.165	0.72818	0.0:0.0:0.0:1.0	rs2020860;rs2266704;rs56518508;rs57046818;rs2020860	81	Q99518	FMO2_HUMAN	S	81	ENSP00000209929:F81S;ENSP00000405905:F81S	ENSP00000209929:F81S	F	+	2	0	FMO2	169429207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.960000	0.49161	2.062000	0.61559	0.533000	0.62120	TTC	T|0.895;C|0.105	0.105	strong		0.353	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		C	171162583	T	C	171162583	3	2	22	1	0	0	0	0	1	0	0	0	5955	1783	62	2	248	2	FMO2	1	171162583	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32	171162583	78088038	831	5939										
FMO2	2327	hgsc.bcm.edu	37	chr1	171165803	171165803	+	Frame_Shift_Del	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagacaactgtccttagtGtgagaaaatgtccagatttc					rs28369860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171165803delG	ENST00000209929.7	+	4	495	c.337delG	c.(337-339)gtgfs	p.V113fs	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Frame_Shift_Del_p.V113fs|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453													G|G|-|deletion	515	0.102835	0.2973	0.0476	5008	,	,		22626	0.002		0.0447	False		,,,				2504	0.0429				p.S112fs		Pindel,Atlas-Indel	.											.	FMO2	66	.	0			c.336delT	GRCh37	CD033950	FMO2	D	rs28369860	PASS	.			1055,3211		149,757,1227	106	106	106			2.2	1	1	dbSNP_125	115	398,7856		12,374,3741	no	frameshift	FMO2	NM_001460.2		161,1131,4968	A1A1,A1R,RR		4.8219,24.7304,11.6054			171165803	1453,11067	2093	4290	6383	SO:0001589	frameshift_variant	2327	exon4			.	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.337delG	1.37:g.171165803delG	ENSP00000209929:p.Val113fs	Somatic	184	.	.		WXS	Illumina HiSeq	Phase_I	155	43	0.277	NM_001460	Q53XR0	Frame_Shift_Del	DEL	ENST00000209929.7	37	CCDS1293.1																																																																																			.	.	weak		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		-	171165803	G	-	171165803	7	5	22	1	0	1	0	1	0	0	0	0	5955	1377	48	0	347	0	FMO2	1	171165803	Frame_Shift_Del	DEL	G	TCGA-G8-6324-01A-11D-2210-10	3220	171165803	78084818	832	5940										
FMO2	2327	hgsc.bcm.edu	37	chr1	171168584	171168584	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgattggaatgggaaactCaggctcagatattgctgttg					rs386636736|rs2020862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171168584C>T	ENST00000209929.7	+	5	742	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Missense_Mutation_p.S195L|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	195					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.S195L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGGAAACTCAGGCTCAGAT	0.488													C|||	2368	0.472843	0.5265	0.4827	5008	,	,		19421	0.5456		0.2962	False		,,,				2504	0.5				p.S195L		Atlas-SNP	.											FMO2,NS,carcinoma,-1,2	FMO2	66	2	1	Substitution - Missense(1)	stomach(1)	c.C584T	GRCh37	CM033900	FMO2	M	rs2020862	PASS	.	C	LEU/SER	2174,2232	585.1+/-386.2	561,1052,590	134	140	138		584	6.2	1	1	dbSNP_98	138	2753,5847	439.1+/-359.1	448,1857,1995	yes	missense	FMO2	NM_001460.2	145	1009,2909,2585	TT,TC,CC		32.0116,49.3418,37.8825	probably-damaging	195/472	171168584	4927,8079	2203	4300	6503	SO:0001583	missense	2327	exon5			GAAACTCAGGCTC	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.584C>T	1.37:g.171168584C>T	ENSP00000209929:p.Ser195Leu	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	232	124	0.534483	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	788	0.3608058608058608	190	0.3861788617886179	136	0.3756906077348066	272	0.4755244755244755	190	0.25065963060686014	C	22.4	4.283324	0.80803	0.493418	0.320116	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.60548	0.18;0.18	6.17	6.17	0.99709	.	0.056199	0.85682	D	0.000000	T	0.80824	0.4697	H	0.99689	4.705	0.09310	P	0.9999999445746	B	0.29232	0.238	B	0.41764	0.366	T	0.82810	-0.0273	9	0.87932	D	0	-3.8921	19.6509	0.95805	0.0:1.0:0.0:0.0	rs2020862;rs2266706;rs58871762;rs2020862	195	Q99518	FMO2_HUMAN	L	195	ENSP00000209929:S195L;ENSP00000405905:S195L	ENSP00000209929:S195L	S	+	2	0	FMO2	169435208	1.000000	0.71417	0.969000	0.41365	0.124000	0.20399	5.980000	0.70516	2.941000	0.99782	0.655000	0.94253	TCA	C|0.606;T|0.394	0.394	strong		0.488	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		T	171168584	C	T	171168584	3	4	22	1	0	0	0	0	1	0	0	0	5955	838	29	2	598	2	FMO2	1	171168584	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2781	171168584	78082037	833	5941	123	2								
FMO2	2327	hgsc.bcm.edu	37	chr1	171168585	171168585	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgattggaatgggaaactcAggctcagatattgctgttga					rs2020861|rs386636736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171168585A>G	ENST00000209929.7	+	5	743	c.585A>G	c.(583-585)tcA>tcG	p.S195S	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Silent_p.S195S|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	195					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.S195S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGAAACTCAGGCTCAGATA	0.488													G|||	2951	0.589257	0.7209	0.6167	5008	,	,		19431	0.6032		0.3877	False		,,,				2504	0.5849				p.S195S		Atlas-SNP	.											FMO2,NS,carcinoma,0,2	FMO2	66	2	1	Substitution - coding silent(1)	stomach(1)	c.A585G						PASS	.	G		2951,1455	468.5+/-355.1	983,985,235	135	140	139		585	-12.3	0	1	dbSNP_98	139	3589,5011	627.2+/-397.9	765,2059,1476	no	coding-synonymous	FMO2	NM_001460.2		1748,3044,1711	GG,GA,AA		41.7326,33.0232,49.7155		195/472	171168585	6540,6466	2203	4300	6503	SO:0001819	synonymous_variant	2327	exon5			AAACTCAGGCTCA	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.585A>G	1.37:g.171168585A>G		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	236	124	0.525424	NM_001460	Q53XR0	Silent	SNP	ENST00000209929.7	37	CCDS1293.1																																																																																			A|0.536;G|0.464	0.464	strong		0.488	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		G	171168585	A	G	171168585	2	3	22	1	0	0	0	0	0	0	0	1	5955	175	7	3		3	FMO2	1	171168585	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	171168585	78082036	834	5942	123	2								
FMO2	2327	hgsc.bcm.edu	37	chr1	171176879	171176879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgtagcctgccctcagaGagaactatgatgatggacat	11	8	1	4	rs6671692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171176879G>A	ENST00000209929.7	+	8	1364	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Silent_p.E402E|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	401					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCCTCAGAGAGAACTATGA	0.313													G|||	232	0.0463259	0.1573	0.0115	5008	,	,		19971	0.0		0.001	False		,,,				2504	0.0153				p.E402E		Atlas-SNP	.											.	FMO2	66	.	0			c.G1206A						PASS	.	G		502,3904	229.4+/-244.0	26,450,1727	100	106	104		1206	5.8	0.5	1	dbSNP_116	104	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	FMO2	NM_001460.2		26,456,6021	AA,AG,GG		0.0698,11.3936,3.9059		402/472	171176879	508,12498	2203	4300	6503	SO:0001819	synonymous_variant	2327	exon8			CTCAGAGAGAACT	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1206G>A	1.37:g.171176879G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	196	86	0.438776	NM_001460	Q53XR0	Silent	SNP	ENST00000209929.7	37	CCDS1293.1																																																																																			G|0.953;A|0.047	0.047	strong		0.313	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		A	171176879	G	A	171176879	2	1	22	1	0	0	0	0	0	0	0	1	5955	933	33	2		2	FMO2	1	171176879	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8294	171176879	78073742	835	5943										
FMO2	2327	hgsc.bcm.edu	37	chr1	171176912	171176912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggacattatcaaaaggaaTgaaaaaagaattgacctgta	8	4	1	3	rs2020865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171176912T>G	ENST00000209929.7	+	8	1397	c.1239T>G	c.(1237-1239)aaT>aaG	p.N413K	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Missense_Mutation_p.N413K|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	412					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAAAAGGAATGAAAAAAGAA	0.343													T|||	569	0.113618	0.3343	0.0504	5008	,	,		18765	0.002		0.0467	False		,,,				2504	0.044				p.N413K		Atlas-SNP	.											.	FMO2	66	.	0			c.T1239G	GRCh37	CM033903	FMO2	M	rs2020865	PASS	.	T	LYS/ASN	1230,3176	409.5+/-335.0	183,864,1156	83	89	87		1239	-1.1	1	1	dbSNP_98	87	422,8178	131.0+/-188.9	13,396,3891	yes	missense	FMO2	NM_001460.2	94	196,1260,5047	GG,GT,TT		4.907,27.9165,12.7018	benign	413/472	171176912	1652,11354	2203	4300	6503	SO:0001583	missense	2327	exon8			AAGGAATGAAAAA	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1239T>G	1.37:g.171176912T>G	ENSP00000209929:p.Asn413Lys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	143	77	0.538462	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	219	0.10027472527472528	169	0.3434959349593496	18	0.049723756906077346	0	0.0	32	0.04221635883905013	T	0.158	-1.084576	0.01888	0.279165	0.04907	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.57273	0.41;0.41	5.8	-1.15	0.09709	.	0.538750	0.22135	N	0.064122	T	0.03011	0.0089	N	0.00583	-1.355	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.28427	-1.0044	9	0.02654	T	1	-7.7681	1.9158	0.03297	0.1215:0.1799:0.3758:0.3228	rs2020865;rs2266708;rs52799084;rs61598461;rs2020865	413	Q99518	FMO2_HUMAN	K	413	ENSP00000209929:N413K;ENSP00000405905:N413K	ENSP00000209929:N413K	N	+	3	2	FMO2	169443536	0.666000	0.27475	0.973000	0.42090	0.473000	0.32948	0.082000	0.14847	0.140000	0.18849	0.528000	0.53228	AAT	T|0.887;G|0.113	0.113	strong		0.343	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		G	171176912	T	G	171176912	3	3	22	1	0	0	0	0	1	0	0	0	5955	1461	51	5	1265	5	FMO2	1	171176912	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33	171176912	78073709	836	5944										
BAT2L2	23215	hgsc.bcm.edu	37	chr1	171553209	171553209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacttgccaaggcacaatcCggtcttgcctttcagcaaac	8	13	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:171553209C>T	ENST00000338920.4	+	29	7755	c.7518C>T	c.(7516-7518)tcC>tcT	p.S2506S	PRRC2C_ENST00000367742.3_Silent_p.S2508S|PRRC2C_ENST00000392078.3_Silent_p.S2508S|PRRC2C_ENST00000426496.2_Silent_p.S2441S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2506	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGCACAATCCGGTCTTGCCT	0.463																																					p.S2506S		Atlas-SNP	.											.	.	.	.	0			c.C7518T						PASS	.						181	172	175					1																	171553209		2203	4300	6503	SO:0001819	synonymous_variant	23215	exon29			ACAATCCGGTCTT	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.7518C>T	1.37:g.171553209C>T		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	272	133	0.488971	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	5.989	0.366324	0.11352	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.19805	0.0476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54702	-0.8254	4	.	.	.	.	4.6701	0.12685	0.2829:0.418:0.1692:0.1299	.	.	.	.	L	989	.	.	P	+	2	0	PRRC2C	169819833	0.000000	0.05858	0.002000	0.10522	0.916000	0.54674	-2.380000	0.01066	-4.069000	0.00076	-2.084000	0.00378	CCG	.	.	none		0.463	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171553209	C	T	171553209	2	4	22	1	0	0	0	0	0	0	0	1	1321	639	23	1		1	BAT2L2	1	171553209	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	376297	171553209	77697412	837	5945										
C1orf9	51430	hgsc.bcm.edu	37	chr1	172547465	172547465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcactagcatggtggaagaAtatgaagaaattgctgattc	12	5	0	4	rs2285664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:172547465A>G	ENST00000263688.3	+	14	1587	c.1368A>G	c.(1366-1368)gaA>gaG	p.E456E	SUCO_ENST00000367723.4_Silent_p.E607E|SUCO_ENST00000610051.1_Silent_p.E419E|SUCO_ENST00000608151.1_Silent_p.E608E	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	456					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)											TGGTGGAAGAATATGAAGAAA	0.358													A|||	1273	0.254193	0.2368	0.2089	5008	,	,		17330	0.2024		0.2296	False		,,,				2504	0.3885				p.E456E		Atlas-SNP	.											.	.	.	.	0			c.A1368G						PASS	.	A	,	1025,3381	378.3+/-322.8	111,803,1289	132	124	127		1368,1236	5.4	1	1	dbSNP_100	127	2069,6531	359.0+/-331.4	229,1611,2460	no	coding-synonymous,coding-synonymous	C1orf9	NM_014283.3,NM_016227.2	,	340,2414,3749	GG,GA,AA		24.0581,23.2637,23.789	,	456/1255,412/1211	172547465	3094,9912	2203	4300	6503	SO:0001819	synonymous_variant	51430	exon14			GGAAGAATATGAA	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.1368A>G	1.37:g.172547465A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	166	83	0.5	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	CCDS1303.1																																																																																			A|0.770;G|0.230	0.230	strong		0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		G	172547465	A	G	172547465	2	3	22	1	0	0	0	0	0	0	0	1	2067	98	4	2		2	C1orf9	1	172547465	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	994256	172547465	76703156	838	5946										
FASLG	356	hgsc.bcm.edu	37	chr1	172628488	172628488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggccaccaccaccaccGccaccgccaccactaccacc	6	23	0	0	rs61756244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:172628488G>A	ENST00000367721.2	+	1	331	c.147G>A	c.(145-147)ccG>ccA	p.P49P	FASLG_ENST00000340030.3_Silent_p.P49P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	49	Poly-Pro.|Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						caccaccaccgccaccgccac	0.662													G|||	242	0.0483227	0.1717	0.0216	5008	,	,		10744	0.0		0.0	False		,,,				2504	0.0				p.P49P	Ovarian(28;486 876 30334 44033)	Atlas-SNP	.											.	FASLG	44	.	0			c.G147A						PASS	.	G		714,3692	267.4+/-267.8	68,578,1557	56	57	57		147	-8.6	0	1	dbSNP_129	57	7,8593	3.7+/-12.6	0,7,4293	no	coding-synonymous	FASLG	NM_000639.1		68,585,5850	AA,AG,GG		0.0814,16.2052,5.5436		49/282	172628488	721,12285	2203	4300	6503	SO:0001819	synonymous_variant	356	exon1			ACCACCGCCACCG	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.147G>A	1.37:g.172628488G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	136	60	0.441176	NM_000639	Q9BZP9	Silent	SNP	ENST00000367721.2	37	CCDS1304.1																																																																																			G|0.944;A|0.056	0.056	strong		0.662	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			A	172628488	G	A	172628488	2	1	22	1	0	0	0	0	0	0	0	1	5682	1074	38	1		1	FASLG	1	172628488	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81023	172628488	76622133	839	5947										
FASLG	356	hgsc.bcm.edu	37	chr1	172628521	172628521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaccacctccgccgccgccGccaccactgcctccactacc	5	25	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:172628521G>A	ENST00000367721.2	+	1	364	c.180G>A	c.(178-180)ccG>ccA	p.P60P	FASLG_ENST00000340030.3_Silent_p.P60P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	60	Poly-Pro.|Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgccgccgccgccaccactgc	0.617																																					p.P60P	Ovarian(28;486 876 30334 44033)	Atlas-SNP	.											FASLG,colon,carcinoma,0,2	FASLG	44	2	0			c.G180A						scavenged	.						74	69	71					1																	172628521		2203	4299	6502	SO:0001819	synonymous_variant	356	exon1			GCCGCCGCCACCA	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.180G>A	1.37:g.172628521G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	171	2	0.0116959	NM_000639	Q9BZP9	Silent	SNP	ENST00000367721.2	37	CCDS1304.1																																																																																			.	.	none		0.617	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			A	172628521	G	A	172628521	2	1	22	1	0	0	0	0	0	0	0	1	5682	1074	38	1		1	FASLG	1	172628521	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33	172628521	76622100	840	5948										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173516903	173516903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggattctgtcttcatatcAttatgtgaaacgtgggaaaa	10	5	4	1	rs10494490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173516903A>G	ENST00000367714.3	-	13	1904	c.1482T>C	c.(1480-1482)aaT>aaC	p.N494N	SLC9C2_ENST00000536496.1_Silent_p.N392N|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	494					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTCATATCATTATGTGAAA	0.338													G|||	2430	0.485224	0.671	0.3732	5008	,	,		18236	0.6448		0.2147	False		,,,				2504	0.4274				p.N494N		Atlas-SNP	.											SLC9A11,NS,carcinoma,-2,1	.	.	1	0			c.T1482C						PASS	.	G		2607,1799	529.7+/-372.7	790,1027,386	148	131	137		1482	-3.2	0	1	dbSNP_119	137	1797,6803	733.2+/-406.9	188,1421,2691	no	coding-synonymous	SLC9A11	NM_178527.3		978,2448,3077	GG,GA,AA		20.8953,40.8307,33.8613		494/1125	173516903	4404,8602	2203	4300	6503	SO:0001819	synonymous_variant	284525	exon13			CATATCATTATGT	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1482T>C	1.37:g.173516903A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	104	40	0.384615	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			A|0.637;G|0.363	0.363	strong		0.338	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		G	173516903	A	G	173516903	2	3	22	1	0	0	0	0	0	0	0	1	14711	214	8	2		2	SLC9A11	1	173516903	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	888382	173516903	75733718	841	5949										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173516915	173516915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatatcattatgtgaaacGtgggaaaactgaaccgtatc	8	7	2	2	rs114115413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173516915G>A	ENST00000367714.3	-	13	1892	c.1470C>T	c.(1468-1470)caC>caT	p.H490H	SLC9C2_ENST00000536496.1_Silent_p.H388H|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	490					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TATGTGAAACGTGGGAAAACT	0.353													G|||	61	0.0121805	0.0454	0.0014	5008	,	,		18017	0.0		0.0	False		,,,				2504	0.0				p.H490H		Atlas-SNP	.											.	.	.	.	0			c.C1470T						PASS	.	G		125,4281	92.0+/-130.7	3,119,2081	134	119	124		1470	-8.2	0	1	dbSNP_132	124	0,8600		0,0,4300	no	coding-synonymous	SLC9A11	NM_178527.3		3,119,6381	AA,AG,GG		0.0,2.837,0.9611		490/1125	173516915	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	284525	exon13			TGAAACGTGGGAA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1470C>T	1.37:g.173516915G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	92	37	0.402174	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			G|0.989;A|0.011	0.011	strong		0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		A	173516915	G	A	173516915	2	1	22	1	0	0	0	0	0	0	0	1	14711	1136	40	1		1	SLC9A11	1	173516915	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	173516915	75733706	842	5950										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173526520	173526520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgttcagcgagattataaaCatcaggagcccagagtaaat	9	8	2	2	rs116588526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173526520C>T	ENST00000367714.3	-	10	1596	c.1174G>A	c.(1174-1176)Gtt>Att	p.V392I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V290I|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	392					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGATTATAAACATCAGGAGCC	0.343													C|||	61	0.0121805	0.0454	0.0014	5008	,	,		17169	0.0		0.0	False		,,,				2504	0.0				p.V392I		Atlas-SNP	.											.	.	.	.	0			c.G1174A						PASS	.	C	ILE/VAL	125,4281	89.7+/-128.4	3,119,2081	112	124	120		1174	-9.1	0.1	1	dbSNP_132	120	0,8600		0,0,4300	yes	missense	SLC9A11	NM_178527.3	29	3,119,6381	TT,TC,CC		0.0,2.837,0.9611	benign	392/1125	173526520	125,12881	2203	4300	6503	SO:0001583	missense	284525	exon10			TATAAACATCAGG	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1174G>A	1.37:g.173526520C>T	ENSP00000356687:p.Val392Ile	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	223	118	0.529148	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	C	0.013	-1.635886	0.00806	0.02837	0.0	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.22945	1.93;1.93	5.57	-9.13	0.00704	Cation/H+ exchanger (1);	1.176240	0.06215	N	0.685727	T	0.02342	0.0072	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39440	-0.9614	10	0.21014	T	0.42	-6.9326	11.2419	0.48974	0.1172:0.6529:0.0:0.2299	.	392	Q5TAH2	S9A11_HUMAN	I	392;290	ENSP00000356687:V392I;ENSP00000445437:V290I	ENSP00000356687:V392I	V	-	1	0	SLC9A11	171793143	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	-1.894000	0.01607	-1.269000	0.02436	-1.130000	0.01982	GTT	C|0.989;T|0.011	0.011	strong		0.343	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173526520	C	T	173526520	3	4	22	1	0	0	0	0	1	0	0	0	14711	478	17	2	2276	2	SLC9A11	1	173526520	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9605	173526520	75724101	843	5951										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173552703	173552703	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccaaaaaaaattgatgcGatgctacaaatgatcaatga	6	6	1	3	rs16828416	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173552703G>A	ENST00000367714.3	-	6	1004	c.582C>T	c.(580-582)atC>atT	p.I194I	SLC9C2_ENST00000536496.1_Silent_p.I92I|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	194					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAATTGATGCGATGCTACAAA	0.303													G|||	344	0.0686901	0.2466	0.0245	5008	,	,		16936	0.0		0.0	False		,,,				2504	0.001				p.I194I		Atlas-SNP	.											.	.	.	.	0			c.C582T						PASS	.	G		996,3410	357.6+/-314.0	113,770,1320	55	60	58		582	0.1	0	1	dbSNP_123	58	6,8590	5.0+/-18.6	0,6,4292	yes	coding-synonymous	SLC9A11	NM_178527.3		113,776,5612	AA,AG,GG		0.0698,22.6055,7.7065		194/1125	173552703	1002,12000	2203	4298	6501	SO:0001819	synonymous_variant	284525	exon6			TGATGCGATGCTA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.582C>T	1.37:g.173552703G>A		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	202	98	0.485149	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			G|0.910;A|0.090	0.090	strong		0.303	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		A	173552703	G	A	173552703	2	1	22	1	0	0	0	0	0	0	0	1	14711	1048	37	1		1	SLC9A11	1	173552703	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26183	173552703	75697918	844	5952										
ANKRD45	339416	hgsc.bcm.edu	37	chr1	173596257	173596257	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgtgtcagtaacagctaAagagacttttgcaatatatt	7	6	2	1	rs12059066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173596257A>T	ENST00000333279.2	-	4	598	c.538T>A	c.(538-540)Tta>Ata	p.L180I		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	196										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTAACAGCTAAAGAGACTTTT	0.373													A|||	965	0.192692	0.6989	0.0504	5008	,	,		20198	0.0		0.005	False		,,,				2504	0.001				p.L180I		Atlas-SNP	.											.	ANKRD45	36	.	0			c.T538A						PASS	.	A	ILE/LEU	2539,1867	632.6+/-395.9	756,1027,420	145	150	148		538	-3.8	0	1	dbSNP_120	148	32,8568	19.8+/-62.0	0,32,4268	yes	missense	ANKRD45	NM_198493.2	5	756,1059,4688	TT,TA,AA		0.3721,42.374,19.7678	benign	180/267	173596257	2571,10435	2203	4300	6503	SO:0001583	missense	339416	exon4			CAGCTAAAGAGAC		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.538T>A	1.37:g.173596257A>T	ENSP00000331268:p.Leu180Ile	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	54	53	0.981481	NM_198493	A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	377	0.17261904761904762	353	0.717479674796748	20	0.055248618784530384	0	0.0	4	0.005277044854881266	A	11.25	1.583800	0.28268	0.57626	0.003721	ENSG00000183831	ENST00000333279	T	0.13778	2.56	5.35	-3.79	0.04320	.	1.555310	0.03916	N	0.282716	T	0.01870	0.0059	N	0.22421	0.69	0.80722	P	0.0	B	0.27068	0.167	B	0.19148	0.024	T	0.35895	-0.9770	9	0.36615	T	0.2	-17.7491	1.2921	0.02062	0.1379:0.3633:0.2467:0.2521	rs12059066;rs52822128;rs12059066	196	Q5TZF3	ANR45_HUMAN	I	180	ENSP00000331268:L180I	ENSP00000331268:L180I	L	-	1	2	ANKRD45	171862880	0.000000	0.05858	0.000000	0.03702	0.656000	0.38851	-0.559000	0.05971	-1.213000	0.02617	0.455000	0.32223	TTA	A|0.814;T|0.186	0.186	strong		0.373	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		T	173596257	A	T	173596257	3	4	22	1	0	0	0	0	1	0	0	0	673	11	1	5	274	5	ANKRD45	1	173596257	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43554	173596257	75654364	845	5953										
ANKRD45	339416	hgsc.bcm.edu	37	chr1	173596273	173596273	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaaagagacttttgcaatAtattttttcagagtcagcct	7	7	2	2	rs12059068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173596273A>G	ENST00000333279.2	-	4	582	c.522T>C	c.(520-522)taT>taC	p.Y174Y		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	190										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTTTTGCAATATATTTTTTCA	0.388													A|||	965	0.192692	0.6989	0.0504	5008	,	,		19880	0.0		0.005	False		,,,				2504	0.001				p.Y174Y		Atlas-SNP	.											.	ANKRD45	36	.	0			c.T522C						PASS	.	A		2539,1867	632.6+/-395.9	756,1027,420	124	128	127		522	-0.2	0.9	1	dbSNP_120	127	32,8568	19.2+/-60.6	0,32,4268	no	coding-synonymous	ANKRD45	NM_198493.2		756,1059,4688	GG,GA,AA		0.3721,42.374,19.7678		174/267	173596273	2571,10435	2203	4300	6503	SO:0001819	synonymous_variant	339416	exon4			TGCAATATATTTT		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.522T>C	1.37:g.173596273A>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_198493	A1A4G2|Q6ZST1	Silent	SNP	ENST00000333279.2	37	CCDS1309.1																																																																																			A|0.781;G|0.219	0.219	strong		0.388	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		G	173596273	A	G	173596273	2	3	22	1	0	0	0	0	0	0	0	1	673	456	16	2		2	ANKRD45	1	173596273	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	173596273	75654348	846	5954										
KLHL20	27252	hgsc.bcm.edu	37	chr1	173725101	173725101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaactacctcctattgccGcaagaacgaccactaatgca	5	13	0	1	rs16846395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173725101G>A	ENST00000209884.4	+	6	1027	c.891G>A	c.(889-891)ccG>ccA	p.P297P	KLHL20_ENST00000546011.1_Silent_p.P108P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	297					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCCTATTGCCGCAAGAACGAC	0.403													G|||	472	0.0942492	0.3404	0.0274	5008	,	,		18997	0.0		0.003	False		,,,				2504	0.0				p.P297P	GBM(159;862 2695 6559 23041)	Atlas-SNP	.											.	KLHL20	54	.	0			c.G891A						PASS	.	G		1110,3296	397.2+/-330.3	139,832,1232	108	99	102		891	1.2	1	1	dbSNP_123	102	23,8577	15.3+/-51.7	0,23,4277	no	coding-synonymous	KLHL20	NM_014458.3		139,855,5509	AA,AG,GG		0.2674,25.1929,8.7114		297/610	173725101	1133,11873	2203	4300	6503	SO:0001819	synonymous_variant	27252	exon6			ATTGCCGCAAGAA	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.891G>A	1.37:g.173725101G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	119	60	0.504202	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																			G|0.899;A|0.101	0.101	strong		0.403	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		A	173725101	G	A	173725101	2	1	22	1	0	0	0	0	0	0	0	1	8375	1074	38	1		1	KLHL20	1	173725101	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128828	173725101	75525520	847	5955										
KLHL20	27252	hgsc.bcm.edu	37	chr1	173735378	173735378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtacttggaggctttctTtatgctgtgggtggccagga	15	7	1	0	rs7536773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173735378T>C	ENST00000209884.4	+	8	1381	c.1245T>C	c.(1243-1245)ctT>ctC	p.L415L	KLHL20_ENST00000546011.1_Silent_p.L226L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	415					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAGGCTTTCTTTATGCTGTGG	0.433													C|||	555	0.110823	0.3971	0.0346	5008	,	,		15265	0.0		0.006	False		,,,				2504	0.0				p.L415L	GBM(159;862 2695 6559 23041)	Atlas-SNP	.											.	KLHL20	54	.	0			c.T1245C						PASS	.	C		1333,3073	695.2+/-405.9	197,939,1067	285	261	269		1245	0.1	1	1	dbSNP_116	269	31,8569	818.0+/-406.9	0,31,4269	no	coding-synonymous	KLHL20	NM_014458.3		197,970,5336	CC,CT,TT		0.3605,30.2542,10.4875		415/610	173735378	1364,11642	2203	4300	6503	SO:0001819	synonymous_variant	27252	exon8			CTTTCTTTATGCT	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1245T>C	1.37:g.173735378T>C		Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	330	135	0.409091	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																			T|0.875;C|0.125	0.125	strong		0.433	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		C	173735378	T	C	173735378	2	2	22	1	0	0	0	0	0	0	0	1	8375	1828	64	2		2	KLHL20	1	173735378	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10277	173735378	75515243	848	5956										
CENPL	91687	hgsc.bcm.edu	37	chr1	173772506	173772506	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttagactctgctccattTgcaaggaataagggcagaca	11	8	1	2	rs16846420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173772506T>G	ENST00000345664.6	-	4	771	c.558A>C	c.(556-558)gcA>gcC	p.A186A	CENPL_ENST00000367710.3_Silent_p.A186A|CENPL_ENST00000356198.2_Silent_p.A232A	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	186					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTGCTCCATTTGCAAGGAATA	0.408													T|||	564	0.11262	0.4032	0.0346	5008	,	,		19168	0.0		0.007	False		,,,				2504	0.0				p.A232A		Atlas-SNP	.											.	CENPL	26	.	0			c.A696C						PASS	.	T	,,	1339,3067	438.4+/-345.3	198,943,1062	104	114	111		696,558,558	5	1	1	dbSNP_123	111	31,8569	18.5+/-59.3	0,31,4269	no	coding-synonymous,coding-synonymous,coding-synonymous	CENPL	NM_001127181.2,NM_001171182.1,NM_033319.3	,,	198,974,5331	GG,GT,TT		0.3605,30.3904,10.5336	,,	232/391,186/345,186/345	173772506	1370,11636	2203	4300	6503	SO:0001819	synonymous_variant	91687	exon6			TCCATTTGCAAGG	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.558A>C	1.37:g.173772506T>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	171	85	0.497076	NM_001127181	Q5TEL5|Q96ND4	Silent	SNP	ENST00000345664.6	37	CCDS30938.1																																																																																			T|0.876;G|0.124	0.124	strong		0.408	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		G	173772506	T	G	173772506	2	3	22	1	0	0	0	0	0	0	0	1	3236	1799	63	5		5	CENPL	1	173772506	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37128	173772506	75478115	849	5957										
ZBTB37	84614	hgsc.bcm.edu	37	chr1	173839435	173839435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctgagccatctaaaccaGttgcgcatgcagggccgtct	11	13	2	1	rs9425761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:173839435G>A	ENST00000367701.5	+	2	263	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ZBTB37_ENST00000367702.1_Silent_p.Q24Q|ZBTB37_ENST00000432989.1_Silent_p.Q24Q|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Silent_p.Q24Q|ZBTB37_ENST00000427304.1_Silent_p.Q24Q			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ATCTAAACCAGTTGCGCATGC	0.527													G|||	560	0.111821	0.4009	0.0346	5008	,	,		17279	0.0		0.006	False		,,,				2504	0.0				p.Q24Q		Atlas-SNP	.											.	ZBTB37	38	.	0			c.G72A						PASS	.	G	,	1333,3073	446.1+/-347.9	199,935,1069	79	73	75		72,72	3.8	1	1	dbSNP_119	75	31,8569	20.4+/-63.3	0,31,4269	no	coding-synonymous,coding-synonymous	ZBTB37	NM_001122770.1,NM_032522.3	,	199,966,5338	AA,AG,GG		0.3605,30.2542,10.4875	,	24/504,24/362	173839435	1364,11642	2203	4300	6503	SO:0001819	synonymous_variant	84614	exon3			AAACCAGTTGCGC	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.72G>A	1.37:g.173839435G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	192	89	0.463542	NM_032522	Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																			G|0.875;A|0.125	0.125	strong		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		A	173839435	G	A	173839435	2	1	22	1	0	0	0	0	0	0	0	1	17535	1020	36	2		2	ZBTB37	1	173839435	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66929	173839435	75411186	850	5958										
RABGAP1L	9910	hgsc.bcm.edu	37	chr1	174219724	174219724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtgatgtgtttaccttcAgtgtctccttggaggtaaaa	10	7	2	1	rs7339904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:174219724A>G	ENST00000251507.4	+	6	1003	c.829A>G	c.(829-831)Agt>Ggt	p.S277G	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S240G	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTTTACCTTCAGTGTCTCCTT	0.388													A|||	328	0.0654952	0.2405	0.0144	5008	,	,		16084	0.0		0.0	False		,,,				2504	0.0				p.S277G		Atlas-SNP	.											.	RABGAP1L	103	.	0			c.A829G						PASS	.	A	GLY/SER	917,3489	353.1+/-312.0	107,703,1393	141	138	139		829	4.7	1	1	dbSNP_116	139	6,8594	5.0+/-18.6	0,6,4294	yes	missense	RABGAP1L	NM_014857.4	56	107,709,5687	GG,GA,AA		0.0698,20.8125,7.0967	benign	277/816	174219724	923,12083	2203	4300	6503	SO:0001583	missense	9910	exon6			ACCTTCAGTGTCT	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.829A>G	1.37:g.174219724A>G	ENSP00000251507:p.Ser277Gly	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	104	56	0.538462	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	137	0.06272893772893773	132	0.2682926829268293	5	0.013812154696132596	0	0.0	0	0.0	A	15.94	2.982019	0.53827	0.208125	6.98E-4	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.47528	0.87;3.46;0.84	5.8	4.68	0.58851	.	0.235735	0.48767	N	0.000180	T	0.00012	0.0000	L	0.38531	1.155	0.09310	P	1.0	P;B;B	0.35328	0.495;0.017;0.372	B;B;B	0.30401	0.115;0.066;0.083	T	0.27571	-1.0070	9	0.23891	T	0.37	.	11.7008	0.51569	0.9314:0.0:0.0686:0.0	rs7339904;rs52822913;rs7339904	277;277;240	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	G	240;277;277;277	ENSP00000350027:S240G;ENSP00000251507:S277G;ENSP00000403136:S277G	ENSP00000251507:S277G	S	+	1	0	RABGAP1L	172486347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.023000	0.64084	1.044000	0.40200	0.459000	0.35465	AGT	A|0.914;G|0.086	0.086	strong		0.388	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		G	174219724	A	G	174219724	3	3	22	1	0	0	0	0	1	0	0	0	12965	188	7	3	847	3	RABGAP1L	1	174219724	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	380289	174219724	75030897	851	5959										
TNN	63923	hgsc.bcm.edu	37	chr1	175049405	175049405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctcctcagctactacccCctggggaaggagctctctgg	10	15	2	0	rs61742080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:175049405C>A	ENST00000239462.4	+	4	1004	c.891C>A	c.(889-891)ccC>ccA	p.P297P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	297	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTACTACCCCCTGGGGAAGG	0.582													C|||	357	0.0712859	0.202	0.0317	5008	,	,		18435	0.004		0.0298	False		,,,				2504	0.0348				p.P297P		Atlas-SNP	.											.	TNN	297	.	0			c.C891A						PASS	.	C		743,3663	305.2+/-288.9	57,629,1517	80	79	80		891	-7.2	0.5	1	dbSNP_129	80	226,8374	93.1+/-155.1	4,218,4078	no	coding-synonymous	TNN	NM_022093.1		61,847,5595	AA,AC,CC		2.6279,16.8634,7.4504		297/1300	175049405	969,12037	2203	4300	6503	SO:0001819	synonymous_variant	63923	exon4			CTACCCCCTGGGG	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.891C>A	1.37:g.175049405C>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	137	57	0.416058	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			C|0.931;A|0.069	0.069	strong		0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175049405	C	A	175049405	2	1	22	1	0	0	0	0	0	0	0	1	16320	610	22	4		4	TNN	1	175049405	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	829681	175049405	74201216	852	5960										
TNN	63923	hgsc.bcm.edu	37	chr1	175097864	175097864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtactgtgacatggaaacGgacggaggtggctggattgt	17	5	0	1	rs12022593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:175097864G>A	ENST00000239462.4	+	15	3425	c.3312G>A	c.(3310-3312)acG>acA	p.T1104T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1104	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACATGGAAACGGACGGAGGTG	0.592													G|||	879	0.175519	0.1082	0.1643	5008	,	,		17883	0.2609		0.1948	False		,,,				2504	0.1667				p.T1104T		Atlas-SNP	.											TNN,right_upper_lobe,carcinoma,+1,1	TNN	297	1	0			c.G3312A						PASS	.	G		525,3881	240.6+/-251.3	24,477,1702	97	92	94		3312	-2.3	0.9	1	dbSNP_120	94	1856,6744	331.6+/-319.7	212,1432,2656	no	coding-synonymous	TNN	NM_022093.1		236,1909,4358	AA,AG,GG		21.5814,11.9156,18.3069		1104/1300	175097864	2381,10625	2203	4300	6503	SO:0001819	synonymous_variant	63923	exon15			GGAAACGGACGGA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3312G>A	1.37:g.175097864G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	125	60	0.48	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			G|0.813;A|0.187	0.187	strong		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175097864	G	A	175097864	2	1	22	1	0	0	0	0	0	0	0	1	16320	1103	39	1		1	TNN	1	175097864	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48459	175097864	74152757	853	5961										
TNN	63923	hgsc.bcm.edu	37	chr1	175105996	175105996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaccaccggcactccagCgcggtatgaggtgagagtgg	14	13	1	2	rs2072036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:175105996C>T	ENST00000239462.4	+	17	3580	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		A -> V (in dbSNP:rs2072036).		axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCACTCCAGCGCGGTATGAG	0.453													C|||	608	0.121406	0.0961	0.1052	5008	,	,		19829	0.2123		0.0905	False		,,,				2504	0.1053				p.A1156V		Atlas-SNP	.											TNN,bladder,carcinoma,-1,1	TNN	297	1	0			c.C3467T						PASS	.	C	VAL/ALA	405,4001	201.8+/-224.7	22,361,1820	84	78	80		3467	1.9	0	1	dbSNP_96	80	770,7830	183.2+/-231.5	26,718,3556	yes	missense	TNN	NM_022093.1	64	48,1079,5376	TT,TC,CC		8.9535,9.192,9.0343	benign	1156/1300	175105996	1175,11831	2203	4300	6503	SO:0001583	missense	63923	exon17			CTCCAGCGCGGTA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3467C>T	1.37:g.175105996C>T	ENSP00000239462:p.Ala1156Val	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	293	0.13415750915750915	55	0.11178861788617886	34	0.09392265193370165	136	0.23776223776223776	68	0.08970976253298153	C	2.604	-0.292295	0.05568	0.09192	0.089535	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26223	1.75	5.27	1.92	0.25849	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.397573	0.29730	N	0.011357	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	9	0.52906	T	0.07	.	4.2092	0.10503	0.0:0.5171:0.1689:0.314	rs2072036;rs52836593;rs2072036	1156	Q9UQP3	TENN_HUMAN	V	1156;979	ENSP00000239462:A1156V	ENSP00000239462:A1156V	A	+	2	0	TNN	173372619	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	0.590000	0.23954	0.750000	0.32877	-0.710000	0.03640	GCG	C|0.889;T|0.111	0.111	strong		0.453	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175105996	C	T	175105996	3	4	22	1	0	0	0	0	1	0	0	0	16320	768	27	1	3529	1	TNN	1	175105996	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8132	175105996	74144625	854	5962										
TNR	7143	hgsc.bcm.edu	37	chr1	175306758	175306758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtaaaccccactcaaaGtgtctccattcatcaaatgc	7	12	4	0	rs61731114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:175306758G>A	ENST00000367674.2	-	19	4148	c.3440C>T	c.(3439-3441)aCt>aTt	p.T1147I	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.T1147I			Q92752	TENR_HUMAN	tenascin R	1147	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)					CCCACTCAAAGTGTCTCCATT	0.502													G|||	49	0.00978435	0.0303	0.013	5008	,	,		21455	0.0		0.0	False		,,,				2504	0.0				p.T1147I		Atlas-SNP	.											.	TNR	399	.	0			c.C3440T						PASS	.	G	ILE/THR	137,4269	96.7+/-135.4	4,129,2070	58	54	55		3440	5.4	1	1	dbSNP_129	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TNR	NM_003285.2	89	4,130,6369	AA,AG,GG		0.0116,3.1094,1.061	benign	1147/1359	175306758	138,12868	2203	4300	6503	SO:0001583	missense	7143	exon19			CTCAAAGTGTCTC	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.3440C>T	1.37:g.175306758G>A	ENSP00000356646:p.Thr1147Ile	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	131	71	0.541985	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	24	0.01098901098901099	20	0.04065040650406504	4	0.011049723756906077	0	0.0	0	0.0	G	22.4	4.278785	0.80692	0.031094	1.16E-4	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.77229	-1.08;-1.08	5.37	5.37	0.77165	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.055231	0.64402	D	0.000001	T	0.47340	0.1440	M	0.62088	1.915	0.58432	D	0.999995	P	0.49253	0.921	B	0.43301	0.415	T	0.69997	-0.4993	10	0.59425	D	0.04	.	13.659	0.62354	0.0:0.0:0.8453:0.1547	.	1147	Q92752	TENR_HUMAN	I	1147;1147;1057	ENSP00000356646:T1147I;ENSP00000263525:T1147I	ENSP00000263525:T1147I	T	-	2	0	TNR	173573381	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.037000	0.64170	2.500000	0.84329	0.655000	0.94253	ACT	G|0.989;A|0.011	0.011	strong		0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175306758	G	A	175306758	3	1	22	1	0	0	0	0	1	0	0	0	16335	1029	36	2	656	2	TNR	1	175306758	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	200762	175306758	73943863	855	5963										
TNR	7143	hgsc.bcm.edu	37	chr1	175335162	175335162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaggcaatcccagaggaTggggtaaaggtaattcggta	14	6	1	2	rs7516376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:175335162T>C	ENST00000367674.2	-	11	2874	c.2166A>G	c.(2164-2166)ccA>ccG	p.P722P	TNR_ENST00000263525.2_Silent_p.P722P			Q92752	TENR_HUMAN	tenascin R	722	Fibronectin type-III 5. {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)					TCCCAGAGGATGGGGTAAAGG	0.552													T|||	277	0.0553115	0.1989	0.0202	5008	,	,		21185	0.0		0.0	False		,,,				2504	0.0				p.P722P		Atlas-SNP	.											TNR,NS,carcinoma,-1,2	TNR	399	2	0			c.A2166G						PASS	.	T		774,3632	314.1+/-293.5	71,632,1500	169	158	162		2166	-11.8	0.2	1	dbSNP_116	162	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TNR	NM_003285.2		71,637,5795	CC,CT,TT		0.0581,17.567,5.9895		722/1359	175335162	779,12227	2203	4300	6503	SO:0001819	synonymous_variant	7143	exon11			AGAGGATGGGGTA	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.2166A>G	1.37:g.175335162T>C		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	241	114	0.473029	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			T|0.929;C|0.071	0.071	strong		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		C	175335162	T	C	175335162	2	2	22	1	0	0	0	0	0	0	0	1	16335	1451	51	2		2	TNR	1	175335162	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28404	175335162	73915459	856	5964										
PAPPA2	60676	hgsc.bcm.edu	37	chr1	176564092	176564092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaagtggggaggaggaagCgactgacttggtcctgacag	16	7	1	2	rs34698817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:176564092C>T	ENST00000367662.3	+	3	2516	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A451V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	451	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGGAGGAAGCGACTGACTTG	0.532													C|||	17	0.00339457	0.0113	0.0029	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.0				p.A451V		Atlas-SNP	.											PAPPA2_ENST00000367661,NS,carcinoma,-1,1	PAPPA2	665	1	0			c.C1352T						PASS	.	C	VAL/ALA,VAL/ALA	29,4195		0,29,2083	99	105	103		1352,1352	2.4	0	1	dbSNP_126	103	0,8456		0,0,4228	yes	missense,missense	PAPPA2	NM_020318.2,NM_021936.2	64,64	0,29,6311	TT,TC,CC		0.0,0.6866,0.2287	benign,benign	451/1792,451/828	176564092	29,12651	2112	4228	6340	SO:0001583	missense	60676	exon3			AGGAAGCGACTGA	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1352C>T	1.37:g.176564092C>T	ENSP00000356634:p.Ala451Val	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	34	0.447368	NM_021936	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	6	0.0027472527472527475	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	0	0.0	C	0.118	-1.128701	0.01756	0.006866	0.0	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30448	4.78;1.53	4.87	2.4	0.29515	.	1.625110	0.03455	N	0.211229	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.008;0.013	B;B	0.08055	0.003;0.001	T	0.18871	-1.0323	10	0.18276	T	0.48	0.1753	3.9845	0.09509	0.1568:0.3405:0.0:0.5026	rs34698817	451;451	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	451	ENSP00000356634:A451V;ENSP00000356633:A451V	ENSP00000356633:A451V	A	+	2	0	PAPPA2	174830715	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.277000	0.18734	0.230000	0.21059	-0.300000	0.09419	GCG	C|0.997;T|0.003	0.003	strong		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176564092	C	T	176564092	3	4	22	1	0	0	0	0	1	0	0	0	11433	768	27	1	1358	1	PAPPA2	1	176564092	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1228930	176564092	72686529	857	5965										
ASTN1	460	hgsc.bcm.edu	37	chr1	176915087	176915087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcctttcagcacctgtcCggcagccacttccttggaat	8	14	1	0	rs138686233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:176915087C>T	ENST00000367654.3	-	13	2459	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ASTN1_ENST00000361833.2_Missense_Mutation_p.G742R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G742R|ASTN1_ENST00000367657.3_Missense_Mutation_p.G742R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	750					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G742*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCACCTGTCCGGCAGCCACT	0.463													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.0				p.G742R		Atlas-SNP	.											ASTN1,NS,carcinoma,0,1	ASTN1	314	1	1	Substitution - Nonsense(1)	lung(1)	c.G2224A						PASS	.	C	ARG/GLY,ARG/GLY	37,4369	41.6+/-74.8	0,37,2166	110	118	115		2224,2224	5.2	1	1	dbSNP_134	115	0,8600		0,0,4300	yes	missense,missense	ASTN1	NM_004319.1,NM_207108.1	125,125	0,37,6466	TT,TC,CC		0.0,0.8398,0.2845	possibly-damaging,possibly-damaging	742/1295,742/1217	176915087	37,12969	2203	4300	6503	SO:0001583	missense	460	exon13			CCTGTCCGGCAGC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2248G>A	1.37:g.176915087C>T	ENSP00000356626:p.Gly750Arg	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	82	49	0.597561	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	25.9	4.687682	0.88639	0.008398	0.0	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17370	2.28;2.7;2.7;2.29	5.25	5.25	0.73442	.	0.107853	0.64402	D	0.000004	T	0.15478	0.0373	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.993;0.993	P;P;P	0.54856	0.762;0.762;0.762	T	0.00555	-1.1673	10	0.87932	D	0	-17.5766	11.9089	0.52727	0.0:0.9195:0.0:0.0805	.	750;742;742	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	742;742;750;742;742	ENSP00000356629:G742R;ENSP00000354536:G742R;ENSP00000356626:G750R;ENSP00000395041:G742R	ENSP00000354536:G742R	G	-	1	0	ASTN1	175181710	1.000000	0.71417	0.951000	0.38953	0.992000	0.81027	5.539000	0.67199	2.467000	0.83353	0.655000	0.94253	GGA	C|0.998;T|0.002	0.002	strong		0.463	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176915087	C	T	176915087	3	4	22	1	0	0	0	0	1	0	0	0	1064	661	23	1	1708	1	ASTN1	1	176915087	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	350995	176915087	72335534	858	5966										
SEC16B	89866	hgsc.bcm.edu	37	chr1	177902388	177902388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagtcctcgtctccagcGggggatgcgttcttggtggg	18	9	2	0	rs3813647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:177902388G>A	ENST00000308284.6	-	22	2873	c.2784C>T	c.(2782-2784)ccC>ccT	p.P928P	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	928					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGTCTCCAGCGGGGGATGCGT	0.592													G|||	464	0.0926518	0.093	0.111	5008	,	,		17865	0.0268		0.172	False		,,,				2504	0.0654				p.P928P		Atlas-SNP	.											.	SEC16B	92	.	0			c.C2784T						PASS	.	G		434,3510		25,384,1563	29	36	34		2784	1.8	0.2	1	dbSNP_107	34	1498,6858		129,1240,2809	no	coding-synonymous	SEC16B	NM_033127.2		154,1624,4372	AA,AG,GG		17.9272,11.0041,15.7073		928/1061	177902388	1932,10368	1972	4178	6150	SO:0001819	synonymous_variant	89866	exon22			TCCAGCGGGGGAT	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2784C>T	1.37:g.177902388G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	111	109	0.981982	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1																																																																																			G|0.878;A|0.122	0.122	strong		0.592	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		A	177902388	G	A	177902388	2	1	22	1	0	0	0	0	0	0	0	1	13987	1103	39	1		1	SEC16B	1	177902388	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	987301	177902388	71348233	859	5967										
SEC16B	89866	hgsc.bcm.edu	37	chr1	177929940	177929940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttacctccatgctgtgcaGttcaacaagggctgcttgcc	9	13	1	0	rs7413442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:177929940G>A	ENST00000308284.6	-	7	1011	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	SEC16B_ENST00000464631.2_Silent_p.L309L|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	308					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATGCTGTGCAGTTCAACAAGG	0.542													G|||	1392	0.277955	0.5719	0.2003	5008	,	,		19999	0.1944		0.1819	False		,,,				2504	0.1207				p.L308L		Atlas-SNP	.											.	SEC16B	92	.	0			c.C922T						PASS	.	G		2005,2213		490,1025,594	42	46	45		922	-0.2	0.9	1	dbSNP_116	45	1459,7027		128,1203,2912	no	coding-synonymous	SEC16B	NM_033127.2		618,2228,3506	AA,AG,GG		17.193,47.5344,27.267		308/1061	177929940	3464,9240	2109	4243	6352	SO:0001819	synonymous_variant	89866	exon7			TGTGCAGTTCAAC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.922C>T	1.37:g.177929940G>A		Somatic	234	2	0.00854701		WXS	Illumina HiSeq	Phase_I	210	210	1	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1																																																																																			G|0.727;A|0.273	0.273	strong		0.542	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		A	177929940	G	A	177929940	2	1	22	1	0	0	0	0	0	0	0	1	13987	1020	36	2		2	SEC16B	1	177929940	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27552	177929940	71320681	860	5968										
RALGPS2	55103	hgsc.bcm.edu	37	chr1	178745947	178745947	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtcaatattgcagctacTgcttctgaggtaagatattt	9	6	2	2	rs6665037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:178745947T>G	ENST00000367635.3	+	2	386	c.48T>G	c.(46-48)acT>acG	p.T16T	RALGPS2_ENST00000367634.2_Silent_p.T16T	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	16					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGCAGCTACTGCTTCTGAGG	0.408													T|||	483	0.0964457	0.1415	0.0648	5008	,	,		13985	0.1012		0.0765	False		,,,				2504	0.0736				p.T16T		Atlas-SNP	.											.	RALGPS2	69	.	0			c.T48G						PASS	.	T		538,3868	245.0+/-254.1	35,468,1700	119	103	109		48	-1.6	1	1	dbSNP_116	109	655,7945	165.8+/-217.9	19,617,3664	no	coding-synonymous	RALGPS2	NM_152663.3		54,1085,5364	GG,GT,TT		7.6163,12.2106,9.1727		16/584	178745947	1193,11813	2203	4300	6503	SO:0001819	synonymous_variant	55103	exon2			AGCTACTGCTTCT	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.48T>G	1.37:g.178745947T>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	119	65	0.546219	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	CCDS1325.1																																																																																			T|0.908;G|0.092	0.092	strong		0.408	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		G	178745947	T	G	178745947	2	3	22	1	0	0	0	0	0	0	0	1	13018	1567	55	5		5	RALGPS2	1	178745947	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	816007	178745947	70504674	861	5969										
ANGPTL1	9068	hgsc.bcm.edu	37	chr1	178834231	178834231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagaccaggagtatactgTtggctgttaggaatatgttg	13	5	0	1	rs6689778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:178834231T>C	ENST00000234816.2	-	3	1128	c.681A>G	c.(679-681)caA>caG	p.Q227Q	ANGPTL1_ENST00000367629.1_Silent_p.Q227Q|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	227					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GAGTATACTGTTGGCTGTTAG	0.498													A|||	283	0.0565096	0.2035	0.0202	5008	,	,		18124	0.0		0.0	False		,,,				2504	0.0				p.Q227Q		Atlas-SNP	.											.	ANGPTL1	41	.	0			c.A681G						PASS	.	A	,	822,3584		80,662,1461	118	108	111		681,	-8.9	0.1	1	dbSNP_116	111	4,8596		0,4,4296	no	coding-synonymous,intron	ANGPTL1,RALGPS2	NM_004673.3,NM_152663.3	,	80,666,5757	CC,CT,TT		0.0465,18.6564,6.3509	,	227/492,	178834231	826,12180	2203	4300	6503	SO:0001819	synonymous_variant	9068	exon3			ATACTGTTGGCTG	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.681A>G	1.37:g.178834231T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	128	48	0.375	NM_004673	Q5T5Z5	Silent	SNP	ENST00000234816.2	37	CCDS1327.1																																																																																			T|0.939;C|0.061	0.061	strong		0.498	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		C	178834231	T	C	178834231	2	2	22	1	0	0	0	0	0	0	0	1	613	1722	60	2		2	ANGPTL1	1	178834231	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	88284	178834231	70416390	862	5970										
SOAT1	6646	hgsc.bcm.edu	37	chr1	179310262	179310262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtctacattttcagttccCtattttctgtttcaacattg	4	10	4	0	rs11576517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179310262C>T	ENST00000367619.3	+	7	740	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SOAT1_ENST00000540564.1_Silent_p.P141P|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.P134P	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	199					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)	p.P199P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTCAGTTCCCTATTTTCTGT	0.453													C|||	1414	0.282348	0.1354	0.2406	5008	,	,		16077	0.4782		0.2406	False		,,,				2504	0.3517				p.P199P		Atlas-SNP	.											SOAT1,NS,carcinoma,0,1	SOAT1	53	1	1	Substitution - coding silent(1)	stomach(1)	c.C597T						PASS	.	C		596,3810	259.5+/-263.1	39,518,1646	204	187	193		597	-1.8	1	1	dbSNP_120	193	1822,6778	325.9+/-317.1	177,1468,2655	no	coding-synonymous	SOAT1	NM_003101.4		216,1986,4301	TT,TC,CC		21.186,13.527,18.5914		199/551	179310262	2418,10588	2203	4300	6503	SO:0001819	synonymous_variant	6646	exon7			AGTTCCCTATTTT	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.597C>T	1.37:g.179310262C>T		Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	228	109	0.47807	NM_003101	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	CCDS1330.1																																																																																			C|0.773;T|0.227	0.227	strong		0.453	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		T	179310262	C	T	179310262	2	4	22	1	0	0	0	0	0	0	0	1	14910	668	24	2		2	SOAT1	1	179310262	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	476031	179310262	69940359	863	5971										
C1orf125	126859	hgsc.bcm.edu	37	chr1	179347832	179347832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagactagggagaaggcagtTtgtcccccacatttggcccg	12	12	0	2	rs10798674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179347832T>C	ENST00000367618.3	+	5	822	c.435T>C	c.(433-435)gtT>gtC	p.V145V	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.V145V	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	145										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						AGAAGGCAGTTTGTCCCCCAC	0.363													T|||	2563	0.511781	0.2799	0.5274	5008	,	,		14205	0.6974		0.5159	False		,,,				2504	0.6186				p.V145V		Atlas-SNP	.											.	AXDND1	142	.	0			c.T435C						PASS	.	T		1413,2993	460.7+/-352.7	230,953,1020	128	105	113		435	-1.6	0.3	1	dbSNP_120	113	3991,4609	553.1+/-386.2	933,2125,1242	no	coding-synonymous	AXDND1	NM_144696.4		1163,3078,2262	CC,CT,TT		46.407,32.0699,41.5501		145/1013	179347832	5404,7602	2203	4300	6503	SO:0001819	synonymous_variant	126859	exon5			GGCAGTTTGTCCC	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.435T>C	1.37:g.179347832T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	CCDS30948.1																																																																																			T|0.546;C|0.454	0.454	strong		0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179347832	T	C	179347832	2	2	22	1	0	0	0	0	0	0	0	1	1993	1828	64	2		2	C1orf125	1	179347832	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37570	179347832	69902789	864	5972										
C1orf125	126859	hgsc.bcm.edu	37	chr1	179363114	179363114	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacttggtaactcagcgaGtgatggaccagcgcatttta	11	8	1	2	rs139341288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179363114G>C	ENST00000367618.3	+	10	1327	c.940G>C	c.(940-942)Gtg>Ctg	p.V314L	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.V314L	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	314										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						AACTCAGCGAGTGATGGACCA	0.378													G|||	21	0.00419329	0.0159	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.0				p.V314L		Atlas-SNP	.											.	AXDND1	142	.	0			c.G940C						PASS	.	G	LEU/VAL	55,4351	55.5+/-91.7	1,53,2149	153	150	151		940	-8.5	0.4	1	dbSNP_134	151	0,8600		0,0,4300	yes	missense	AXDND1	NM_144696.4	32	1,53,6449	CC,CG,GG		0.0,1.2483,0.4229	benign	314/1013	179363114	55,12951	2203	4300	6503	SO:0001583	missense	126859	exon10			CAGCGAGTGATGG	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.940G>C	1.37:g.179363114G>C	ENSP00000356590:p.Val314Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	79	33	0.417722	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	11.60	1.686179	0.29962	0.012483	0.0	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.44083	2.23;0.93;2.25	5.33	-8.49	0.00931	.	1.179580	0.05606	N	0.577214	T	0.15609	0.0376	N	0.17474	0.49	0.09310	N	0.999999	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.11329	0.005;0.005;0.006	T	0.16748	-1.0392	10	0.24483	T	0.36	-0.2882	8.4441	0.32833	0.3562:0.1866:0.4572:0.0	.	272;314;314	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	L	314;272;314;248	ENSP00000356590:V314L;ENSP00000416712:V314L;ENSP00000391716:V248L	ENSP00000353471:V272L	V	+	1	0	AXDND1	177629737	0.041000	0.20044	0.412000	0.26496	0.994000	0.84299	-1.684000	0.01932	-1.766000	0.01302	-0.152000	0.13540	GTG	G|0.997;C|0.003	0.003	strong		0.378	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179363114	G	C	179363114	3	2	22	1	0	0	0	0	1	0	0	0	1993	1029	36	4	974	4	C1orf125	1	179363114	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15282	179363114	69887507	865	5973										
C1orf125	126859	hgsc.bcm.edu	37	chr1	179504026	179504028	+	In_Frame_Del	DEL	AAG	AAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagatgaaagagaagtaaAagaagaagaagaacaacaag					rs551573109|rs141228272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179504026_179504028delAAG	ENST00000367618.3	+	25	3347_3349	c.2960_2962delAAG	c.(2959-2964)aaagaa>aaa	p.E991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).							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						agagaagtaaaagaagaagaaga	0.325																																					p.987_987del		Pindel,Atlas-Indel	.											.	AXDND1	142	.	0			c.2959_2961del						PASS	.																																			SO:0001651	inframe_deletion	126859	exon25			.	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.2960_2962delAAG	1.37:g.179504035_179504037delAAG	ENSP00000356590:p.Glu991del	Somatic	219	.	.		WXS	Illumina HiSeq	Phase_I	203	53	0.261	NM_144696	Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																			AAG|0.640;-|0.360	0.360	strong		0.325	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179504028	AAG	-	179504026	7	5	22	1	0	1	0	1	0	0	0	0	1993	14	1	0	3054	0	C1orf125	1	179504026	In_Frame_Del	DEL	AAG	TCGA-G8-6324-01A-11D-2210-10	140912	179504026	69746595	866	5974										
C1orf125	126859	hgsc.bcm.edu	37	chr1	179504043	179504043	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaagaagaagaagaacaaCaagaagaagaagaagtcagg	11	3	1	8	rs6658180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179504043C>G	ENST00000367618.3	+	25	3364	c.2977C>G	c.(2977-2979)Caa>Gaa	p.Q993E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	993	Glu-rich.		Q -> E (in dbSNP:rs6658180).							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						agaagaacaacaagaagaaga	0.323													C|||	1910	0.38139	0.2496	0.4035	5008	,	,		17574	0.4256		0.4115	False		,,,				2504	0.4673				p.Q993E		Atlas-SNP	.											.	AXDND1	142	.	0			c.C2977G						PASS	.	C	GLU/GLN	1137,3151		169,799,1176	50	54	53		2977	-4.9	0	1	dbSNP_116	53	3113,5457		585,1943,1757	yes	missense	AXDND1	NM_144696.4	29	754,2742,2933	GG,GC,CC		36.3244,26.5159,33.0534	benign	993/1013	179504043	4250,8608	2144	4285	6429	SO:0001583	missense	126859	exon25			GAACAACAAGAAG	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.2977C>G	1.37:g.179504043C>G	ENSP00000356590:p.Gln993Glu	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	236	116	0.491525	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	825	0.37774725274725274	103	0.20934959349593496	157	0.43370165745856354	263	0.4597902097902098	302	0.39841688654353563	C	0.003	-2.521003	0.00149	0.265159	0.363244	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.15256	2.44;2.46	2.47	-4.94	0.03057	.	2.583780	0.01561	N	0.020132	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43310	-0.9399	9	0.10111	T	0.7	-6.7708	0.9261	0.01325	0.4226:0.1628:0.2568:0.1578	rs6658180;rs6658180	877;993	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	E	993;877;853	ENSP00000356590:Q993E;ENSP00000391716:Q853E	ENSP00000353471:Q877E	Q	+	1	0	AXDND1	177770666	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.633000	0.02022	-1.372000	0.02137	-1.284000	0.01376	CAA	C|0.671;G|0.329	0.329	strong		0.323	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		G	179504043	C	G	179504043	3	3	22	1	0	0	0	0	1	0	0	0	1993	479	17	4	3071	4	C1orf125	1	179504043	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	179504043	69746578	867	5975										
TDRD5	163589	hgsc.bcm.edu	37	chr1	179562740	179562740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagtaccttaccgaggaagGgttgcccctattcttccagc	10	13	1	0	rs61310274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179562740G>C	ENST00000367614.1	+	3	737	c.378G>C	c.(376-378)agG>agC	p.R126S	RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Missense_Mutation_p.R126S|TDRD5_ENST00000444136.1_Missense_Mutation_p.R126S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	126				R -> S (in Ref. 3; AAI30533/AAI44059). {ECO:0000305}.	DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACCGAGGAAGGGTTGCCCCTA	0.453													G|||	1541	0.307708	0.0877	0.4092	5008	,	,		20589	0.371		0.3897	False		,,,				2504	0.3834				p.R126S		Atlas-SNP	.											TDRD5,NS,neuroblastoma,+1,1	TDRD5	149	1	0			c.G378C						PASS	.	G	SER/ARG,SER/ARG,SER/ARG,SER/ARG	658,3748	279.6+/-274.9	54,550,1599	167	155	159		378,378,378,378	2.6	1	1	dbSNP_129	159	3124,5476	477.0+/-369.5	555,2014,1731	yes	missense,missense,missense,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3	110,110,110,110	609,2564,3330	CC,CG,GG		36.3256,14.9342,29.0789	probably-damaging,probably-damaging,probably-damaging,probably-damaging	126/1036,126/1036,126/982,126/982	179562740	3782,9224	2203	4300	6503	SO:0001583	missense	163589	exon3			AGGAAGGGTTGCC	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.378G>C	1.37:g.179562740G>C	ENSP00000356586:p.Arg126Ser	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	325	159	0.489231	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	725	0.33195970695970695	46	0.09349593495934959	153	0.42265193370165743	236	0.4125874125874126	290	0.38258575197889183	G	18.60	3.658717	0.67586	0.149342	0.363256	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.12879	2.64;2.64;2.78	5.59	2.58	0.30949	.	0.200944	0.41194	D	0.000923	T	0.00012	0.0000	L	0.27053	0.805	0.31208	P	0.6990000000000001	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.46162	-0.9211	9	0.30854	T	0.27	-0.0298	7.1341	0.25519	0.3841:0.0:0.6159:0.0	rs61310274	126;126	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	126	ENSP00000356586:R126S;ENSP00000294848:R126S;ENSP00000406052:R126S	ENSP00000294848:R126S	R	+	3	2	TDRD5	177829363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.835000	0.27531	0.625000	0.30304	0.655000	0.94253	AGG	G|0.693;C|0.307	0.307	strong		0.453	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		C	179562740	G	C	179562740	3	2	22	1	0	0	0	0	1	0	0	0	15730	1223	43	4	384	4	TDRD5	1	179562740	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58697	179562740	69687881	868	5976										
TDRD5	163589	hgsc.bcm.edu	37	chr1	179564885	179564885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgaagcaaataatgagcAtggaaaagacttccaagtta	8	8	0	2	rs147268063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179564885A>G	ENST00000367614.1	+	4	1122	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	TDRD5_ENST00000444136.1_Missense_Mutation_p.M255V|TDRD5_ENST00000294848.8_Missense_Mutation_p.M255V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	255					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATAATGAGCATGGAAAAGAC	0.383													A|||	16	0.00319489	0.0121	0.0	5008	,	,		17514	0.0		0.0	False		,,,				2504	0.0				p.M255V		Atlas-SNP	.											.	TDRD5	149	.	0			c.A763G						PASS	.	A	VAL/MET,VAL/MET,VAL/MET,VAL/MET	39,4367	44.6+/-78.6	0,39,2164	88	89	89		763,763,763,763	-11.4	0	1	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense,missense,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3	21,21,21,21	0,39,6464	GG,GA,AA		0.0,0.8852,0.2999	benign,benign,benign,benign	255/1036,255/1036,255/982,255/982	179564885	39,12967	2203	4300	6503	SO:0001583	missense	163589	exon4			ATGAGCATGGAAA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.763A>G	1.37:g.179564885A>G	ENSP00000356586:p.Met255Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	149	72	0.483221	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	3.552	-0.091465	0.07053	0.008852	0.0	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.10960	2.82;2.82;3.01	5.69	-11.4	0.00090	.	1.295340	0.05464	N	0.551832	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29792	-1.0000	10	0.16896	T	0.51	-18.0062	3.1803	0.06582	0.3073:0.3169:0.2888:0.0871	.	255;255	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	255	ENSP00000356586:M255V;ENSP00000294848:M255V;ENSP00000406052:M255V	ENSP00000294848:M255V	M	+	1	0	TDRD5	177831508	0.000000	0.05858	0.000000	0.03702	0.648000	0.38561	-0.275000	0.08525	-1.928000	0.01059	0.477000	0.44152	ATG	A|0.997;G|0.003	0.003	strong		0.383	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		G	179564885	A	G	179564885	3	3	22	1	0	0	0	0	1	0	0	0	15730	217	8	2	773	2	TDRD5	1	179564885	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2145	179564885	69685736	869	5977										
TDRD5	163589	hgsc.bcm.edu	37	chr1	179621253	179621253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattgtcttgacagaactggGttatccttcccagcagcact	8	12	1	2	rs147309264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179621253G>T	ENST00000367614.1	+	13	2440	c.2081G>T	c.(2080-2082)gGt>gTt	p.G694V	TDRD5_ENST00000444136.1_Missense_Mutation_p.G694V|TDRD5_ENST00000294848.8_Missense_Mutation_p.G694V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	694					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACAGAACTGGGTTATCCTTCC	0.403													G|||	16	0.00319489	0.0121	0.0	5008	,	,		16263	0.0		0.0	False		,,,				2504	0.0				p.G694V		Atlas-SNP	.											.	TDRD5	149	.	0			c.G2081T						PASS	.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	39,4367	44.6+/-78.6	0,39,2164	103	97	99		2081,2081,2081,746,2081	2.4	0	1	dbSNP_134	99	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_001199092.1,NM_173533.3	109,109,109,109,109	0,39,6464	TT,TG,GG		0.0,0.8852,0.2999	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	694/1036,694/1036,694/982,249/537,694/982	179621253	39,12967	2203	4300	6503	SO:0001583	missense	163589	exon13			AACTGGGTTATCC	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2081G>T	1.37:g.179621253G>T	ENSP00000356586:p.Gly694Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	215	107	0.497674	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	10.14	1.269759	0.23221	0.008852	0.0	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34859	2.61;2.61;2.85;1.34	5.28	2.41	0.29592	.	1.593960	0.03140	N	0.166439	T	0.28433	0.0703	L	0.44542	1.39	0.19775	N	0.999957	P;B	0.35872	0.525;0.265	B;B	0.39971	0.315;0.167	T	0.19257	-1.0311	10	0.26408	T	0.33	-22.1301	7.4534	0.27252	0.3467:0.0:0.6533:0.0	.	694;694	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	694;694;694;150	ENSP00000356586:G694V;ENSP00000294848:G694V;ENSP00000406052:G694V;ENSP00000410744:G150V	ENSP00000294848:G694V	G	+	2	0	TDRD5	177887876	0.005000	0.15991	0.016000	0.15963	0.936000	0.57629	0.997000	0.29731	0.244000	0.21351	-0.259000	0.10710	GGT	G|0.997;T|0.003	0.003	strong		0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		T	179621253	G	T	179621253	3	4	22	1	0	0	0	0	1	0	0	0	15730	1261	44	4	2127	4	TDRD5	1	179621253	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56368	179621253	69629368	870	5978										
CEP350	9857	hgsc.bcm.edu	37	chr1	179983153	179983153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatactgccttaaataaggActttttacctattgaaattc	4	7	0	1	rs111349041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:179983153A>G	ENST00000367607.3	+	10	1983	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	522					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTAAATAAGGACTTTTTACCT	0.378													A|||	63	0.0125799	0.0461	0.0029	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0				p.D522G		Atlas-SNP	.											.	CEP350	418	.	0			c.A1565G						PASS	.	A	GLY/ASP	160,4246	106.0+/-144.5	4,152,2047	43	43	43		1565	5.6	1	1	dbSNP_132	43	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CEP350	NM_014810.4	94	4,154,6345	GG,GA,AA		0.0233,3.6314,1.2456	possibly-damaging	522/3118	179983153	162,12844	2203	4300	6503	SO:0001583	missense	9857	exon10			ATAAGGACTTTTT	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1565A>G	1.37:g.179983153A>G	ENSP00000356579:p.Asp522Gly	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	75	46	0.613333	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	A	19.07	3.755539	0.69648	0.036314	2.33E-4	ENSG00000135837	ENST00000367607	D	0.89485	-2.52	5.6	5.6	0.85130	.	0.122043	0.36555	N	0.002523	T	0.73345	0.3575	M	0.65975	2.015	0.46901	D	0.999242	P;P	0.49635	0.78;0.926	B;P	0.47673	0.265;0.554	T	0.81703	-0.0812	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	522;522	E7EU22;Q5VT06	.;CE350_HUMAN	G	522	ENSP00000356579:D522G	.	D	+	2	0	CEP350	178249776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.597000	0.74118	2.251000	0.74343	0.528000	0.53228	GAC	A|0.986;G|0.014	0.014	strong		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	179983153	A	G	179983153	3	3	22	1	0	0	0	0	1	0	0	0	3254	275	10	2	1599	2	CEP350	1	179983153	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	361900	179983153	69267468	871	5979										
CEP350	9857	hgsc.bcm.edu	37	chr1	180013235	180013235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaagaagggacccttgacTcaaagcatcagaagtattct	9	8	3	3	rs12124336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:180013235T>G	ENST00000367607.3	+	21	4967	c.4549T>G	c.(4549-4551)Tca>Gca	p.S1517A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1517	Ser-rich.		S -> A (in dbSNP:rs12124336).		microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACCCTTGACTCAAAGCATCA	0.333													T|||	306	0.0611022	0.1271	0.0432	5008	,	,		17468	0.002		0.0368	False		,,,				2504	0.0706				p.S1517A		Atlas-SNP	.											.	CEP350	418	.	0			c.T4549G						PASS	.	T	ALA/SER	540,3858		36,468,1695	53	48	50		4549	4.6	1	1	dbSNP_120	50	312,8272		7,298,3987	yes	missense	CEP350	NM_014810.4	99	43,766,5682	GG,GT,TT		3.6347,12.2783,6.5629	possibly-damaging	1517/3118	180013235	852,12130	2199	4292	6491	SO:0001583	missense	9857	exon21			CTTGACTCAAAGC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4549T>G	1.37:g.180013235T>G	ENSP00000356579:p.Ser1517Ala	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	46	26	0.565217	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	108|108	0.04945054945054945|0.04945054945054945	68|68	0.13821138211382114|0.13821138211382114	15|15	0.04143646408839779|0.04143646408839779	2|2	0.0034965034965034965|0.0034965034965034965	23|23	0.030343007915567283|0.030343007915567283	T|T	18.03|18.03	3.533272|3.533272	0.64972|0.64972	0.122783|0.122783	0.036347|0.036347	ENSG00000135837|ENSG00000135837	ENST00000418229|ENST00000367607	.|T	.|0.58940	.|0.3	5.69|5.69	4.55|4.55	0.56014|0.56014	.|.	.|0.211967	.|0.23608	.|N	.|0.046377	T|T	0.00724|0.00724	0.0024|0.0024	L|L	0.27053|0.27053	0.805|0.805	0.30332|0.30332	N|N	0.786512|0.786512	.|D;P	.|0.58268	.|0.982;0.905	.|D;B	.|0.67548	.|0.952;0.35	T|T	0.01776|0.01776	-1.1276|-1.1276	5|9	.|.	.|.	.|.	.|.	10.5443|10.5443	0.45052|0.45052	0.1443:0.0:0.0:0.8557|0.1443:0.0:0.0:0.8557	rs12124336;rs12124336|rs12124336;rs12124336	.|1517;1517	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	R|A	125|1517	.|ENSP00000356579:S1517A	.|.	L|S	+|+	2|1	0|0	CEP350|CEP350	178279858|178279858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.733000|0.733000	0.41908|0.41908	2.668000|2.668000	0.46816|0.46816	0.964000|0.964000	0.38108|0.38108	0.454000|0.454000	0.30748|0.30748	CTC|TCA	T|0.934;G|0.066	0.066	strong		0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	180013235	T	G	180013235	3	3	22	1	0	0	0	0	1	0	0	0	3254	1551	54	5	4627	5	CEP350	1	180013235	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30082	180013235	69237386	872	5980										
XPR1	9213	hgsc.bcm.edu	37	chr1	180772708	180772708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccttaaactggccttcagTgagttctacctcagtctaat	7	11	4	1	rs12078050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:180772708T>C	ENST00000367590.4	+	4	606	c.408T>C	c.(406-408)agT>agC	p.S136S	XPR1_ENST00000367589.3_Silent_p.S136S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	136	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGGCCTTCAGTGAGTTCTACC	0.408													C|||	258	0.0515176	0.1808	0.0259	5008	,	,		19232	0.0		0.001	False		,,,				2504	0.0				p.S136S		Atlas-SNP	.											.	XPR1	76	.	0			c.T408C						PASS	.	C	,	636,3770	767.9+/-413.5	45,546,1612	119	123	121		408,408	0.9	1	1	dbSNP_120	121	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous,coding-synonymous	XPR1	NM_001135669.1,NM_004736.3	,	45,550,5908	CC,CT,TT		0.0465,14.4349,4.9208	,	136/632,136/697	180772708	640,12366	2203	4300	6503	SO:0001819	synonymous_variant	9213	exon4			CTTCAGTGAGTTC	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.408T>C	1.37:g.180772708T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	68	36	0.529412	NM_004736	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																			T|0.942;C|0.058	0.058	strong		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		C	180772708	T	C	180772708	2	2	22	1	0	0	0	0	0	0	0	1	17448	1693	59	2		2	XPR1	1	180772708	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	759473	180772708	68477913	873	5981										
XPR1	9213	hgsc.bcm.edu	37	chr1	180804033	180804033	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagtatttacagcccccttCcataaggtaggctttgctga	9	11	0	1	rs61742073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:180804033C>T	ENST00000367590.4	+	10	1356	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	XPR1_ENST00000367589.3_Silent_p.F386F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	386					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAGCCCCCTTCCATAAGGTAG	0.403													C|||	258	0.0515176	0.1808	0.0259	5008	,	,		19539	0.0		0.001	False		,,,				2504	0.0				p.F386F		Atlas-SNP	.											.	XPR1	76	.	0			c.C1158T						PASS	.	C	,	636,3770	267.1+/-267.6	45,546,1612	64	65	64		1158,1158	4.3	1	1	dbSNP_129	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	XPR1	NM_001135669.1,NM_004736.3	,	45,550,5908	TT,TC,CC		0.0465,14.4349,4.9208	,	386/632,386/697	180804033	640,12366	2203	4300	6503	SO:0001819	synonymous_variant	9213	exon10			CCCCTTCCATAAG	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1158C>T	1.37:g.180804033C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_004736	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																			C|0.949;T|0.051	0.051	strong		0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		T	180804033	C	T	180804033	2	4	22	1	0	0	0	0	0	0	0	1	17448	854	30	2		2	XPR1	1	180804033	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31325	180804033	68446588	874	5982										
XPR1	9213	hgsc.bcm.edu	37	chr1	180849394	180849394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatcggtcatggaagtacaAccagagcatatccctgcgcc	10	12	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:180849394A>G	ENST00000367590.4	+	14	2189	c.1991A>G	c.(1990-1992)aAc>aGc	p.N664S	XPR1_ENST00000367589.3_Missense_Mutation_p.N599S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	664					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGGAAGTACAACCAGAGCATA	0.512																																					p.N664S		Atlas-SNP	.											.	XPR1	76	.	0			c.A1991G						PASS	.						155	146	149					1																	180849394		2203	4300	6503	SO:0001583	missense	9213	exon14			AGTACAACCAGAG	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1991A>G	1.37:g.180849394A>G	ENSP00000356562:p.Asn664Ser	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	130	66	0.507692	NM_004736	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	8.539	0.872854	0.17322	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.40476	1.03	5.56	1.18	0.20946	.	0.390605	0.32002	N	0.006729	T	0.10852	0.0265	N	0.00823	-1.155	0.20821	N	0.999847	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35649	-0.9780	10	0.06891	T	0.86	-0.9318	7.5346	0.27702	0.4444:0.0:0.5556:0.0	.	599;664	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	664;599	ENSP00000356562:N664S	ENSP00000356561:N599S	N	+	2	0	XPR1	179116017	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.285000	0.33261	0.243000	0.21327	-0.462000	0.05337	AAC	.	.	none		0.512	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		G	180849394	A	G	180849394	3	3	22	1	0	0	0	0	1	0	0	0	17448	43	2	2	2045	2	XPR1	1	180849394	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45361	180849394	68401227	875	5983										
MR1	3140	hgsc.bcm.edu	37	chr1	181019202	181019202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctggaggatggaagcacCacaggatttctgcagtatgc	13	9	1	0	rs61731104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:181019202C>T	ENST00000367580.5	+	3	389	c.384C>T	c.(382-384)acC>acT	p.T128T	MR1_ENST00000367579.3_Intron|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Silent_p.T128T|MR1_ENST00000282990.6_Silent_p.T128T	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	128	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	ATGGAAGCACCACAGGATTTC	0.512													C|||	197	0.0393371	0.1218	0.0159	5008	,	,		20515	0.0228		0.0	False		,,,				2504	0.002				p.T128T	Colon(174;1412 1962 45296 46549 47110)	Atlas-SNP	.											.	MR1	46	.	0			c.C384T						PASS	.	C	,,,	437,3969	211.5+/-231.7	27,383,1793	113	103	107		,384,384,384	4.4	0.6	1	dbSNP_129	107	6,8594	4.3+/-15.6	0,6,4294	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	MR1	NM_001194999.1,NM_001195000.1,NM_001195035.1,NM_001531.2	,,,	27,389,6087	TT,TC,CC		0.0698,9.9183,3.4061	,,,	,128/250,128/215,128/342	181019202	443,12563	2203	4300	6503	SO:0001819	synonymous_variant	3140	exon4			AAGCACCACAGGA	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.384C>T	1.37:g.181019202C>T		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	270	138	0.511111	NM_001195035	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	CCDS1342.1																																																																																			C|0.967;T|0.033	0.033	strong		0.512	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		T	181019202	C	T	181019202	2	4	22	1	0	0	0	0	0	0	0	1	9752	581	21	2		2	MR1	1	181019202	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	169808	181019202	68231419	876	5984										
MR1	3140	hgsc.bcm.edu	37	chr1	181019253	181019253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggatttcctgatcttcaaTaaagacaccctctcctggct	6	13	3	2	rs61731103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:181019253T>C	ENST00000367580.5	+	3	440	c.435T>C	c.(433-435)aaT>aaC	p.N145N	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Silent_p.N145N|MR1_ENST00000282990.6_Silent_p.N145N|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	145	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TGATCTTCAATAAAGACACCC	0.488													T|||	195	0.0389377	0.1218	0.0159	5008	,	,		21267	0.0228		0.0	False		,,,				2504	0.0				p.N145N	Colon(174;1412 1962 45296 46549 47110)	Atlas-SNP	.											.	MR1	46	.	0			c.T435C						PASS	.	T	,,,	437,3969	211.5+/-231.7	27,383,1793	125	115	119		,435,435,435	-1.9	0	1	dbSNP_129	119	6,8594	4.3+/-15.6	0,6,4294	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	MR1	NM_001194999.1,NM_001195000.1,NM_001195035.1,NM_001531.2	,,,	27,389,6087	CC,CT,TT		0.0698,9.9183,3.4061	,,,	,145/250,145/215,145/342	181019253	443,12563	2203	4300	6503	SO:0001819	synonymous_variant	3140	exon4			CTTCAATAAAGAC	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.435T>C	1.37:g.181019253T>C		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	296	150	0.506757	NM_001195035	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	CCDS1342.1																																																																																			T|0.967;C|0.033	0.033	strong		0.488	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		C	181019253	T	C	181019253	2	2	22	1	0	0	0	0	0	0	0	1	9752	1403	49	2		2	MR1	1	181019253	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51	181019253	68231368	877	5985										
RGS8	85397	hgsc.bcm.edu	37	chr1	182640848	182640848	+	5'UTR	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaactggatggtcagagagGcttcgggttaaggtgttctg					rs115960776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182640848G>A	ENST00000483095.2	-	0	98				RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000258302.4_Silent_p.S8S|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTCAGAGAGGCTTCGGGTTA	0.502													G|||	104	0.0207668	0.0749	0.0072	5008	,	,		20143	0.0		0.0	False		,,,				2504	0.0				p.S8S	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											.	RGS8	51	.	0			c.C24T						PASS	.	G	,	243,4163	142.3+/-177.5	10,223,1970	173	176	175		,24	4.4	1	1	dbSNP_132	175	5,8595	3.7+/-12.6	0,5,4295	no	utr-5,coding-synonymous	RGS8	NM_001102450.1,NM_033345.2	,	10,228,6265	AA,AG,GG		0.0581,5.5152,1.9068	,	,8/199	182640848	248,12758	2203	4300	6503	SO:0001623	5_prime_UTR_variant	85397	exon2			AGAGAGGCTTCGG	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.-160C>T	1.37:g.182640848G>A		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	215	80	0.372093	NM_033345	B4DGL9|Q3SYD2	Silent	SNP	ENST00000483095.2	37	CCDS41443.1																																																																																			G|0.981;A|0.019	0.019	strong		0.502	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		A	182640848	G	A	182640848	1	1	22	0	1	0	0	0	0	0	0	0	13312	1194	42	2		2	RGS8	1	182640848	5'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1621595	182640848	66609773	878	5986	124	2								
RGS8	85397	hgsc.bcm.edu	37	chr1	182640851	182640851	+	5'UTR	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggatggtcagagaggctTcgggttaaggtgttctgggg					rs569956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182640851T>G	ENST00000483095.2	-	0	95				RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000258302.4_Silent_p.R7R|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R7R(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAGAGAGGCTTCGGGTTAAGG	0.498													G|||	783	0.15635	0.3396	0.1297	5008	,	,		20102	0.1399		0.0408	False		,,,				2504	0.0634				p.R7R	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											RGS8,NS,carcinoma,0,1	RGS8	51	1	1	Substitution - coding silent(1)	stomach(1)	c.A21C						PASS	.	G	,	1164,3242	712.2+/-408.1	159,846,1198	171	173	173		,21	4.3	1	1	dbSNP_83	173	368,8232	802.8+/-407.3	6,356,3938	no	utr-5,coding-synonymous	RGS8	NM_001102450.1,NM_033345.2	,	165,1202,5136	GG,GT,TT		4.2791,26.4185,11.7792	,	,7/199	182640851	1532,11474	2203	4300	6503	SO:0001623	5_prime_UTR_variant	85397	exon2			GAGGCTTCGGGTT	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.-163A>C	1.37:g.182640851T>G		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	217	83	0.382488	NM_033345	B4DGL9|Q3SYD2	Silent	SNP	ENST00000483095.2	37	CCDS41443.1																																																																																			T|0.880;G|0.120	0.120	strong		0.498	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		G	182640851	T	G	182640851	1	3	22	0	1	0	0	0	0	0	0	0	13312	1770	62	5		5	RGS8	1	182640851	5'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3	182640851	66609770	879	5987	124	2								
RGS8	85397	hgsc.bcm.edu	37	chr1	182640864	182640864	+	5'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggcttcgggttaaggtgTtctggggaaaaagtagatct	15	4	2	2	rs680277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182640864T>C	ENST00000483095.2	-	0	82				RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000258302.4_Splice_Site_p.N3S|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.N3S(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTAAGGTGTTCTGGGGAAA	0.483													C|||	1018	0.203275	0.5083	0.147	5008	,	,		19459	0.1399		0.0408	False		,,,				2504	0.0634				p.N3S	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											RGS8,NS,carcinoma,0,1	RGS8	51	1	1	Substitution - Missense(1)	stomach(1)	c.A8G						PASS	.	C	,SER/ASN	1782,2624	641.5+/-397.5	367,1048,788	171	173	173		,8	3.3	1	1	dbSNP_83	173	370,8230	802.7+/-407.3	6,358,3936	yes	utr-5,missense-near-splice	RGS8	NM_001102450.1,NM_033345.2	,46	373,1406,4724	CC,CT,TT		4.3023,40.4448,16.5462	,benign	,3/199	182640864	2152,10854	2203	4300	6503	SO:0001623	5_prime_UTR_variant	85397	exon2			AAGGTGTTCTGGG	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.-176A>G	1.37:g.182640864T>C		Somatic	278	1	0.00359712		WXS	Illumina HiSeq	Phase_I	225	85	0.377778	NM_033345	B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	435	0.19917582417582416	255	0.5182926829268293	52	0.143646408839779	99	0.17307692307692307	29	0.03825857519788918	C	0.703	-0.790254	0.02884	0.404448	0.043023	ENSG00000135824	ENST00000258302	T	0.42513	0.97	5.28	3.34	0.38264	.	2.661080	0.01665	N	0.025301	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999996292	B	0.02656	0.0	B	0.01281	0.0	T	0.42766	-0.9432	8	0.07644	T	0.81	.	5.3712	0.16140	0.0:0.6472:0.1631:0.1897	rs680277;rs2023337;rs680277	3	P57771-2	.	S	3	ENSP00000258302:N3S	ENSP00000258302:N3S	N	-	2	0	RGS8	180907487	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.364000	0.20325	0.198000	0.20407	-0.213000	0.12676	AAC	T|0.817;C|0.183	0.183	strong		0.483	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		C	182640864	T	C	182640864	1	2	22	0	1	0	0	0	0	0	0	0	13312	1739	60	2		2	RGS8	1	182640864	5'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13	182640864	66609757	880	5988										
NPL	80896	hgsc.bcm.edu	37	chr1	182785865	182785865	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatatcctgattaatttCctaaaggaagtggctgctgc	9	8	1	2	rs1128759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182785865C>T	ENST00000367553.1	+	7	425	c.381C>T	c.(379-381)ttC>ttT	p.F127F	NPL_ENST00000258317.2_Silent_p.F127F|NPL_ENST00000367555.1_Silent_p.F127F|NPL_ENST00000367552.2_Silent_p.F127F|NPL_ENST00000367554.3_Silent_p.F108F|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	127					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TGATTAATTTCCTAAAGGAAG	0.423													C|||	464	0.0926518	0.2723	0.036	5008	,	,		18121	0.0089		0.0119	False		,,,				2504	0.0593				p.F127F		Atlas-SNP	.											.	NPL	55	.	0			c.C381T						PASS	.	C	,,,,	1070,3336	383.5+/-324.9	137,796,1270	75	66	69		324,381,381,381,381	-0.1	1	1	dbSNP_86	69	79,8521	44.9+/-103.4	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPL	NM_001200050.1,NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2	,,,,	137,875,5491	TT,TC,CC		0.9186,24.2851,8.8344	,,,,	108/302,127/241,127/231,127/285,127/321	182785865	1149,11857	2203	4300	6503	SO:0001819	synonymous_variant	80896	exon8			TAATTTCCTAAAG	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.381C>T	1.37:g.182785865C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	94	45	0.478723	NM_001200052	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1																																																																																			C|0.921;T|0.079	0.079	strong		0.423	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		T	182785865	C	T	182785865	2	4	22	1	0	0	0	0	0	0	0	1	10585	854	30	2		2	NPL	1	182785865	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145001	182785865	66464756	881	5989										
NPL	80896	hgsc.bcm.edu	37	chr1	182787797	182787797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcagaatcgccagcaacaGtttgctttcctttttggggt	10	9	1	1	rs58343016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182787797G>A	ENST00000367553.1	+	8	623	c.579G>A	c.(577-579)caG>caA	p.Q193Q	NPL_ENST00000258317.2_Silent_p.Q193Q|NPL_ENST00000367555.1_Silent_p.Q193Q|NPL_ENST00000367552.2_Silent_p.Q193Q|NPL_ENST00000367554.3_Silent_p.Q174Q|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	193					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GCCAGCAACAGTTTGCTTTCC	0.458													G|||	83	0.0165735	0.0605	0.0043	5008	,	,		20020	0.0		0.0	False		,,,				2504	0.0				p.Q193Q		Atlas-SNP	.											.	NPL	55	.	0			c.G579A						PASS	.	G	,,,,	222,4184	133.7+/-170.0	5,212,1986	73	73	73		522,579,579,579,579	-0.5	1	1	dbSNP_129	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPL	NM_001200050.1,NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2	,,,,	5,212,6286	AA,AG,GG		0.0,5.0386,1.7069	,,,,	174/302,193/241,193/231,193/285,193/321	182787797	222,12784	2203	4300	6503	SO:0001819	synonymous_variant	80896	exon9			GCAACAGTTTGCT	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.579G>A	1.37:g.182787797G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	60	30	0.5	NM_001200052	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1																																																																																			G|0.983;A|0.017	0.017	strong		0.458	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		A	182787797	G	A	182787797	2	1	22	1	0	0	0	0	0	0	0	1	10585	1020	36	2		2	NPL	1	182787797	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1932	182787797	66462824	882	5990										
NPL	80896	hgsc.bcm.edu	37	chr1	182787951	182787951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgtttctgattagcaaCtgttgagtgctctggtgatg	11	5	2	3	rs10911142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182787951C>T	ENST00000367553.1	+	9	654	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	NPL_ENST00000258317.2_Silent_p.L204L|NPL_ENST00000367555.1_Intron|NPL_ENST00000367552.2_Intron|NPL_ENST00000367554.3_Silent_p.L185L|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	204					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TGATTAGCAACTGTTGAGTGC	0.403													C|||	464	0.0926518	0.2723	0.036	5008	,	,		19954	0.0089		0.0119	False		,,,				2504	0.0593				p.L204L		Atlas-SNP	.											.	NPL	55	.	0			c.C610T						PASS	.	C	,,,,	1075,3331	383.7+/-325.0	138,799,1266	75	82	80		553,,610,610,610	4.6	1	1	dbSNP_120	80	79,8521	44.9+/-103.4	0,79,4221	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	NPL	NM_001200050.1,NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2	,,,,	138,878,5487	TT,TC,CC		0.9186,24.3985,8.8728	,,,,	185/302,,204/231,204/285,204/321	182787951	1154,11852	2203	4300	6503	SO:0001819	synonymous_variant	80896	exon10			TAGCAACTGTTGA	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.610C>T	1.37:g.182787951C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	94	33	0.351064	NM_001200052	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1	145	0.06639194139194139	124	0.25203252032520324	13	0.03591160220994475	2	0.0034965034965034965	6	0.0079155672823219	C	8.004	0.755994	0.15846	0.243985	0.009186	ENSG00000135838	ENST00000445965	.	.	.	5.48	4.57	0.56435	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.04281	-1.0963	4	0.36615	T	0.2	-15.183	12.0975	0.53763	0.0:0.9196:0.0:0.0804	rs10911142;rs59052567;rs10911142	.	.	.	I	119	.	ENSP00000414118:T119I	T	+	2	0	NPL	181054574	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.179000	0.50887	1.309000	0.44985	0.655000	0.94253	ACT	C|0.918;T|0.082	0.082	strong		0.403	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		T	182787951	C	T	182787951	2	4	22	1	0	0	0	0	0	0	0	1	10585	564	20	2		2	NPL	1	182787951	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	154	182787951	66462670	883	5991										
DHX9	1660	hgsc.bcm.edu	37	chr1	182827297	182827297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcacagtcctgtgccctGtcacttgtcagacaactgta	9	13	2	1	rs73063095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182827297G>A	ENST00000367549.3	+	8	842	c.732G>A	c.(730-732)ctG>ctA	p.L244L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	244	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with BRCA1.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCTGTGCCCTGTCACTTGTCA	0.408													G|||	104	0.0207668	0.0741	0.0072	5008	,	,		20027	0.001		0.0	False		,,,				2504	0.0				p.L244L	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.G732A						PASS	.	G		243,3731		8,227,1752	100	95	97		732	1.1	1	1	dbSNP_130	97	0,8354		0,0,4177	no	coding-synonymous	DHX9	NM_001357.4		8,227,5929	AA,AG,GG		0.0,6.1147,1.9711		244/1271	182827297	243,12085	1987	4177	6164	SO:0001819	synonymous_variant	1660	exon8			TGCCCTGTCACTT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.732G>A	1.37:g.182827297G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	173	76	0.439306	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																			G|0.986;A|0.014	0.014	strong		0.408	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		A	182827297	G	A	182827297	2	1	22	1	0	0	0	0	0	0	0	1	4516	1364	48	2		2	DHX9	1	182827297	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39346	182827297	66423324	884	5992										
DHX9	1660	hgsc.bcm.edu	37	chr1	182844020	182844020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagactgcattcagatgacCcactttgttcctccaccaaa	6	13	1	3	rs11332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182844020C>T	ENST00000367549.3	+	16	1856	c.1746C>T	c.(1744-1746)acC>acT	p.T582T		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	582					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTCAGATGACCCACTTTGTTC	0.383													C|||	900	0.179712	0.3449	0.1254	5008	,	,		19735	0.1181		0.0746	False		,,,				2504	0.1667				p.T582T	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.C1746T						PASS	.	C		1131,2635		160,811,912	129	134	132		1746	3.5	1	1	dbSNP_52	132	652,7578		23,606,3486	no	coding-synonymous	DHX9	NM_001357.4		183,1417,4398	TT,TC,CC		7.9222,30.0319,14.8633		582/1271	182844020	1783,10213	1883	4115	5998	SO:0001819	synonymous_variant	1660	exon16			GATGACCCACTTT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1746C>T	1.37:g.182844020C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	85	32	0.376471	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																			C|0.865;T|0.135	0.135	strong		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		T	182844020	C	T	182844020	2	4	22	1	0	0	0	0	0	0	0	1	4516	610	22	2		2	DHX9	1	182844020	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16723	182844020	66406601	885	5993										
C1orf14	81626	hgsc.bcm.edu	37	chr1	182922003	182922003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcagcaggggctcctccGccgccgccgccgccgcctct	13	21	1	0	rs13373887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:182922003G>T	ENST00000367547.3	-	1	502	c.266C>A	c.(265-267)gCg>gAg	p.A89E	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_5'Flank	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	161										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GGGCTCCTccgccgccgccgc	0.741													T|||	190	0.0379393	0.1293	0.0159	5008	,	,		11211	0.0		0.005	False		,,,				2504	0.0031				p.A89E		Atlas-SNP	.											.	SHCBP1L	64	.	0			c.C266A						PASS	.	T	GLU/ALA	443,3869		18,407,1731	6	7	7		266	0	0	1	dbSNP_121	7	23,8443		0,23,4210	yes	missense	SHCBP1L	NM_030933.2	107	18,430,5941	TT,TG,GG		0.2717,10.2737,3.6469	benign	89/654	182922003	466,12312	2156	4233	6389	SO:0001583	missense	81626	exon1			TCCTCCGCCGCCG	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.266C>A	1.37:g.182922003G>T	ENSP00000356518:p.Ala89Glu	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	37	28	0.756757	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	66	0.03021978021978022	60	0.12195121951219512	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	0.005	-2.169349	0.00315	0.102737	0.002717	ENSG00000157060	ENST00000367547;ENST00000287709	T	0.39229	1.09	3.96	0.04	0.14207	.	1.066270	0.07492	N	0.905864	T	0.00178	0.0005	N	0.01874	-0.695	0.21499	N	0.999663	B	0.02656	0.0	B	0.04013	0.001	T	0.09930	-1.0652	10	0.02654	T	1	.	4.0773	0.09911	0.0:0.2058:0.3591:0.4351	rs13373887	89	Q9BZQ2-3	.	E	89;158	ENSP00000356518:A89E	ENSP00000287709:A158E	A	-	2	0	SHCBP1L	181188626	.	.	0.003000	0.11579	0.009000	0.06853	.	.	-0.560000	0.06102	-0.865000	0.03005	GCG	G|0.965;T|0.035	0.035	strong		0.741	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		T	182922003	G	T	182922003	3	4	22	1	0	0	0	0	1	0	0	0	2000	1087	38	4	1735	4	C1orf14	1	182922003	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77983	182922003	66328618	886	5994										
LAMC2	3918	hgsc.bcm.edu	37	chr1	183184650	183184650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaaccaggtgtgacaggaGccagatgcgaccgatgtctg	14	9	1	2	rs12065473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183184650G>C	ENST00000264144.4	+	3	396	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	LAMC2_ENST00000493293.1_Missense_Mutation_p.A111P	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	111	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.		A -> P (in dbSNP:rs12065473).		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						TGTGACAGGAGCCAGATGCGA	0.547													G|||	160	0.0319489	0.1135	0.013	5008	,	,		19074	0.0		0.001	False		,,,				2504	0.0				p.A111P		Atlas-SNP	.											.	LAMC2	113	.	0			c.G331C						PASS	.	G	PRO/ALA,PRO/ALA	484,3922	226.9+/-242.2	23,438,1742	124	110	115		331,331	2	0.7	1	dbSNP_120	115	7,8593	5.0+/-18.6	0,7,4293	yes	missense,missense	LAMC2	NM_005562.2,NM_018891.2	27,27	23,445,6035	CC,CG,GG		0.0814,10.985,3.7752	benign,benign	111/1194,111/1112	183184650	491,12515	2203	4300	6503	SO:0001583	missense	3918	exon3			ACAGGAGCCAGAT	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.331G>C	1.37:g.183184650G>C	ENSP00000264144:p.Ala111Pro	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	173	77	0.445087	NM_005562	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	51	0.023351648351648352	46	0.09349593495934959	5	0.013812154696132596	0	0.0	0	0.0	G	16.35	3.099112	0.56183	0.10985	8.14E-4	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.61392	0.11;0.11	4.97	2.0	0.26442	EGF-like, laminin (4);Growth factor, receptor (1);	0.621389	0.16329	N	0.219195	T	0.00637	0.0021	N	0.05230	-0.09	0.27001	N	0.964914	B;B	0.26041	0.14;0.034	B;B	0.31495	0.131;0.039	T	0.04678	-1.0934	10	0.30854	T	0.27	.	5.6168	0.17436	0.2342:0.148:0.6178:0.0	rs12065473;rs52806764;rs12065473	111;111	Q13753;Q13753-2	LAMC2_HUMAN;.	P	111	ENSP00000432063:A111P;ENSP00000264144:A111P	ENSP00000264144:A111P	A	+	1	0	LAMC2	181451273	0.946000	0.32159	0.668000	0.29813	0.953000	0.61014	1.823000	0.39062	0.139000	0.18822	-0.137000	0.14449	GCC	G|0.963;C|0.037	0.037	strong		0.547	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		C	183184650	G	C	183184650	3	2	22	1	0	0	0	0	1	0	0	0	8615	971	34	4	341	4	LAMC2	1	183184650	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262647	183184650	66065971	887	5995										
ARPC5	10092	hgsc.bcm.edu	37	chr1	183599638	183599638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagcactgctattgtcagaCgggctctcaaatcctttata	7	10	2	1	rs2231240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183599638C>T	ENST00000359856.6	-	3	417	c.351G>A	c.(349-351)ccG>ccA	p.P117P	ARPC5_ENST00000367534.1_Silent_p.P117P|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Silent_p.P120P	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	117					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						TATTGTCAGACGGGCTCTCAA	0.343													C|||	537	0.107228	0.2262	0.0403	5008	,	,		18489	0.1091		0.0318	False		,,,				2504	0.0695				p.P120P	Melanoma(136;1596 1789 3041 4830 41075)	Atlas-SNP	.											.	ARPC5	6	.	0			c.G360A						PASS	.	C		853,3553	334.9+/-303.7	79,695,1429	72	72	72		351	-2.7	1	1	dbSNP_98	72	242,8358	95.6+/-157.4	1,240,4059	no	coding-synonymous	ARPC5	NM_005717.2		80,935,5488	TT,TC,CC		2.814,19.36,8.4192		117/152	183599638	1095,11911	2203	4300	6503	SO:0001819	synonymous_variant	10092	exon3			GTCAGACGGGCTC	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.351G>A	1.37:g.183599638C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	99	47	0.474747	NM_001270439	A6NEC4|Q6PG42	Silent	SNP	ENST00000359856.6	37	CCDS1357.1																																																																																			C|0.918;T|0.082	0.082	strong		0.343	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		T	183599638	C	T	183599638	2	4	22	1	0	0	0	0	0	0	0	1	974	523	19	1		1	ARPC5	1	183599638	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	414988	183599638	65650983	888	5996										
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183616884	183616884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactgttctgtgatttccaCtatctccactgaccttccag	5	13	2	2	rs10911390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183616884C>T	ENST00000308641.4	-	2	1304	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	345			V -> M (in dbSNP:rs10911390).		mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GTGATTTCCACTATCTCCACT	0.413													C|||	473	0.0944489	0.18	0.036	5008	,	,		21617	0.1091		0.0318	False		,,,				2504	0.0695				p.V345M		Atlas-SNP	.											.	APOBEC4	45	.	0			c.G1033A						PASS	.	C	,MET/VAL	668,3738	282.8+/-276.7	46,576,1581	138	142	141		,1033	3.3	0.1	1	dbSNP_120	141	242,8358	96.1+/-157.9	1,240,4059	yes	intron,missense	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,21	47,816,5640	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	2.814,15.1611,6.9968	,possibly-damaging	,345/368	183616884	910,12096	2203	4300	6503	SO:0001583	missense	403314	exon2			TTTCCACTATCTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1033G>A	1.37:g.183616884C>T	ENSP00000310622:p.Val345Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	150	68	0.453333	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	155	0.07097069597069597	73	0.1483739837398374	16	0.04419889502762431	43	0.07517482517482517	23	0.030343007915567283	C	4.474	0.087922	0.08583	0.151611	0.02814	ENSG00000173627	ENST00000308641	T	0.13538	2.58	5.15	3.29	0.37713	.	0.441213	0.17487	N	0.172495	T	0.00073	0.0002	L	0.29908	0.895	0.41539	P	0.01149599999999995	B	0.23591	0.088	B	0.21151	0.033	T	0.15925	-1.0420	9	0.66056	D	0.02	-12.8583	10.5051	0.44828	0.0:0.8391:0.0:0.1609	rs10911390;rs52834070;rs57489946;rs10911390	345	Q8WW27	ABEC4_HUMAN	M	345	ENSP00000310622:V345M	ENSP00000310622:V345M	V	-	1	0	APOBEC4	181883507	0.000000	0.05858	0.087000	0.20705	0.069000	0.16628	0.120000	0.15647	0.575000	0.29434	0.655000	0.94253	GTG	C|0.929;T|0.071	0.071	strong		0.413	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		T	183616884	C	T	183616884	3	4	22	1	0	0	0	0	1	0	0	0	796	565	20	2	74	2	APOBEC4	1	183616884	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17246	183616884	65633737	889	5997			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183616926	183616926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaagccttccaaggtcctTggtttcctggaatgacattt	11	9	0	1	rs1174657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183616926T>C	ENST00000308641.4	-	2	1262	c.991A>G	c.(991-993)Aag>Gag	p.K331E	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	331			K -> E (in dbSNP:rs1174657). {ECO:0000269|PubMed:14702039}.		mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CCAAGGTCCTTGGTTTCCTGG	0.443													C|||	1854	0.370208	0.4932	0.3473	5008	,	,		21494	0.244		0.4006	False		,,,				2504	0.319				p.K331E		Atlas-SNP	.											.	APOBEC4	45	.	0			c.A991G						PASS	.	C	,GLU/LYS	2068,2338	606.6+/-390.8	487,1094,622	151	146	148		,991	-0.5	0	1	dbSNP_87	148	3401,5199	640.6+/-399.6	679,2043,1578	yes	intron,missense	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,56	1166,3137,2200	CC,CT,TT		39.5465,46.936,42.0498	,benign	,331/368	183616926	5469,7537	2203	4300	6503	SO:0001583	missense	403314	exon2			GGTCCTTGGTTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.991A>G	1.37:g.183616926T>C	ENSP00000310622:p.Lys331Glu	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	235	116	0.493617	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	783	0.3585164835164835	237	0.4817073170731707	140	0.3867403314917127	106	0.1853146853146853	300	0.39577836411609496	C	0.043	-1.278574	0.01410	0.46936	0.395465	ENSG00000173627	ENST00000308641	T	0.13420	2.59	5.15	-0.467	0.12150	.	0.863067	0.09808	N	0.753250	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	9	0.07175	T	0.84	-23.8613	6.984	0.24718	0.0:0.2167:0.117:0.6663	rs1174657;rs17489759;rs52808143;rs59101056;rs1174657	331	Q8WW27	ABEC4_HUMAN	E	331	ENSP00000310622:K331E	ENSP00000310622:K331E	K	-	1	0	APOBEC4	181883549	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.073000	0.14640	-0.238000	0.09724	-2.030000	0.00424	AAG	T|0.608;C|0.392	0.392	strong		0.443	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		C	183616926	T	C	183616926	3	2	22	1	0	0	0	0	1	0	0	0	796	1821	63	2	116	2	APOBEC4	1	183616926	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42	183616926	65633695	890	5998			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183617094	183617094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttggagttgtccactcgGcatttgaaaaaactgtccag	12	8	0	1	rs10911391|rs386637462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183617094G>A	ENST00000308641.4	-	2	1094	c.823C>T	c.(823-825)Ccg>Tcg	p.P275S	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	275			P -> S (in dbSNP:rs10911391).		mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TGTCCACTCGGCATTTGAAAA	0.478													G|||	473	0.0944489	0.18	0.036	5008	,	,		20202	0.1091		0.0318	False		,,,				2504	0.0695				p.P275S		Atlas-SNP	.											.	APOBEC4	45	.	0			c.C823T						PASS	.	G	,SER/PRO	668,3738	282.8+/-276.7	46,576,1581	88	91	90		,823	0.9	0	1	dbSNP_120	90	242,8358	96.1+/-157.9	1,240,4059	yes	intron,missense	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,74	47,816,5640	AA,AG,GG		2.814,15.1611,6.9968	,benign	,275/368	183617094	910,12096	2203	4300	6503	SO:0001583	missense	403314	exon2			CACTCGGCATTTG	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.823C>T	1.37:g.183617094G>A	ENSP00000310622:p.Pro275Ser	Somatic	386	0	0		WXS	Illumina HiSeq	Phase_I	395	202	0.511392	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	155	0.07097069597069597	73	0.1483739837398374	16	0.04419889502762431	43	0.07517482517482517	23	0.030343007915567283	G	0.023	-1.403808	0.01165	0.151611	0.02814	ENSG00000173627	ENST00000308641	T	0.11063	2.81	4.78	0.865	0.19074	.	0.826979	0.10237	N	0.698973	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	9	0.10111	T	0.7	.	2.2323	0.04000	0.154:0.0888:0.1613:0.5959	rs10911391	275	Q8WW27	ABEC4_HUMAN	S	275	ENSP00000310622:P275S	ENSP00000310622:P275S	P	-	1	0	APOBEC4	181883717	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.117000	0.10708	0.197000	0.20387	-0.264000	0.10439	CCG	G|0.933;A|0.067	0.067	strong		0.478	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		A	183617094	G	A	183617094	3	1	22	1	0	0	0	0	1	0	0	0	796	1203	42	2	284	2	APOBEC4	1	183617094	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	183617094	65633527	891	5999			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183617105	183617105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccactcggcatttgaaaaAactgtccaggaaaggcattg	10	9	0	1	rs1174658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183617105A>G	ENST00000308641.4	-	2	1083	c.812T>C	c.(811-813)tTt>tCt	p.F271S	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	271			F -> S (in dbSNP:rs1174658). {ECO:0000269|PubMed:14702039}.		mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CATTTGAAAAAACTGTCCAGG	0.468													G|||	1854	0.370208	0.4932	0.3473	5008	,	,		20550	0.244		0.4006	False		,,,				2504	0.319				p.F271S		Atlas-SNP	.											APOBEC4,NS,carcinoma,0,1	APOBEC4	45	1	0			c.T812C						PASS	.	G	,SER/PHE	2068,2338	606.4+/-390.7	487,1094,622	89	92	91		,812	4.6	0	1	dbSNP_87	91	3401,5199	639.9+/-399.5	679,2043,1578	yes	intron,missense	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,155	1166,3137,2200	GG,GA,AA		39.5465,46.936,42.0498	,benign	,271/368	183617105	5469,7537	2203	4300	6503	SO:0001583	missense	403314	exon2			TGAAAAAACTGTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.812T>C	1.37:g.183617105A>G	ENSP00000310622:p.Phe271Ser	Somatic	415	0	0		WXS	Illumina HiSeq	Phase_I	411	205	0.498783	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	783	0.3585164835164835	237	0.4817073170731707	140	0.3867403314917127	106	0.1853146853146853	300	0.39577836411609496	G	0.026	-1.372911	0.01214	0.46936	0.395465	ENSG00000173627	ENST00000308641	T	0.10099	2.91	4.55	4.55	0.56014	.	0.194476	0.24917	N	0.034575	T	0.00012	0.0000	N	0.00197	-1.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37709	-0.9694	9	0.23302	T	0.38	.	8.1901	0.31363	0.1861:0.0:0.8139:0.0	rs1174658;rs17489801;rs52801116;rs60238997;rs1174658	271	Q8WW27	ABEC4_HUMAN	S	271	ENSP00000310622:F271S	ENSP00000310622:F271S	F	-	2	0	APOBEC4	181883728	0.034000	0.19679	0.005000	0.12908	0.011000	0.07611	1.385000	0.34408	0.918000	0.36919	-0.119000	0.15052	TTT	A|0.606;G|0.394	0.394	strong		0.468	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		G	183617105	A	G	183617105	3	3	22	1	0	0	0	0	1	0	0	0	796	14	1	2	295	2	APOBEC4	1	183617105	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	183617105	65633516	892	6000			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183617311	183617311	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgatcctgagacaccactTataaagctgtggagaacaga	10	8	0	4	rs10911392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183617311T>A	ENST00000308641.4	-	2	877	c.606A>T	c.(604-606)atA>atT	p.I202I	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	202					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						AGACACCACTTATAAAGCTGT	0.502													A|||	555	0.110823	0.239	0.0418	5008	,	,		21442	0.1091		0.0318	False		,,,				2504	0.0695				p.I202I		Atlas-SNP	.											.	APOBEC4	45	.	0			c.A606T						PASS	.	A	,	880,3526	742.9+/-411.4	81,718,1404	65	68	67		,606	-2.9	0	1	dbSNP_120	67	242,8358	808.6+/-407.2	1,240,4059	yes	intron,coding-synonymous	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,	82,958,5463	AA,AT,TT		2.814,19.9728,8.6268	,	,202/368	183617311	1122,11884	2203	4300	6503	SO:0001819	synonymous_variant	403314	exon2			ACCACTTATAAAG	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.606A>T	1.37:g.183617311T>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	45	0.391304	NM_203454	Q8N7F6	Silent	SNP	ENST00000308641.4	37	CCDS1358.1																																																																																			T|0.917;A|0.083	0.083	strong		0.502	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		A	183617311	T	A	183617311	2	1	22	1	0	0	0	0	0	0	0	1	796	1744	61	5		5	APOBEC4	1	183617311	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	206	183617311	65633310	893	6001			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183617413	183617413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagagcttcgcggttccaTgctgaggcaggaaagtccat	14	10	0	2	rs12045762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183617413T>C	ENST00000308641.4	-	2	775	c.504A>G	c.(502-504)gcA>gcG	p.A168A	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	168					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CGCGGTTCCATGCTGAGGCAG	0.463													T|||	473	0.0944489	0.18	0.036	5008	,	,		21034	0.1091		0.0318	False		,,,				2504	0.0695				p.A168A		Atlas-SNP	.											.	APOBEC4	45	.	0			c.A504G						PASS	.	T	,	667,3739	278.7+/-274.4	46,575,1582	60	65	63		,504	-10	0	1	dbSNP_120	63	242,8358	95.9+/-157.7	1,240,4059	no	intron,coding-synonymous	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,	47,815,5641	CC,CT,TT		2.814,15.1384,6.9891	,	,168/368	183617413	909,12097	2203	4300	6503	SO:0001819	synonymous_variant	403314	exon2			GTTCCATGCTGAG	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.504A>G	1.37:g.183617413T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	70	26	0.371429	NM_203454	Q8N7F6	Silent	SNP	ENST00000308641.4	37	CCDS1358.1																																																																																			T|0.934;C|0.066	0.066	strong		0.463	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		C	183617413	T	C	183617413	2	2	22	1	0	0	0	0	0	0	0	1	796	1451	51	2		2	APOBEC4	1	183617413	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	102	183617413	65633208	894	6002			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
APOBEC4	403314	hgsc.bcm.edu	37	chr1	183617693	183617693	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttttgcaccaggctaccaGaagaagtttttagttcataa	7	9	1	2	rs16861394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:183617693G>A	ENST00000308641.4	-	2	495	c.224C>T	c.(223-225)tCt>tTt	p.S75F	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	75			S -> F (in dbSNP:rs16861394).		mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CAGGCTACCAGAAGAAGTTTT	0.398													G|||	473	0.0944489	0.18	0.036	5008	,	,		20453	0.1091		0.0318	False		,,,				2504	0.0695				p.S75F		Atlas-SNP	.											.	APOBEC4	45	.	0			c.C224T						PASS	.	G	,PHE/SER	668,3738	280.8+/-275.6	46,576,1581	129	136	133		,224	5.3	1	1	dbSNP_123	133	242,8358	96.3+/-158.1	1,240,4059	yes	intron,missense	RGL1,APOBEC4	NM_015149.3,NM_203454.2	,155	47,816,5640	AA,AG,GG		2.814,15.1611,6.9968	,possibly-damaging	,75/368	183617693	910,12096	2203	4300	6503	SO:0001583	missense	403314	exon2			CTACCAGAAGAAG	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.224C>T	1.37:g.183617693G>A	ENSP00000310622:p.Ser75Phe	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	222	108	0.486486	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	155	0.07097069597069597	73	0.1483739837398374	16	0.04419889502762431	43	0.07517482517482517	23	0.030343007915567283	G	18.18	3.566986	0.65651	0.151611	0.02814	ENSG00000173627	ENST00000308641	T	0.65916	-0.18	5.28	5.28	0.74379	APOBEC-like, N-terminal (1);	0.114900	0.37437	N	0.002087	T	0.00845	0.0028	L	0.32530	0.975	0.24382	P	0.99478436	D	0.76494	0.999	D	0.67382	0.951	T	0.14783	-1.0460	9	0.72032	D	0.01	-4.8324	18.5089	0.90909	0.0:0.0:1.0:0.0	rs16861394;rs52805225;rs57960453;rs16861394	75	Q8WW27	ABEC4_HUMAN	F	75	ENSP00000310622:S75F	ENSP00000310622:S75F	S	-	2	0	APOBEC4	181884316	1.000000	0.71417	0.964000	0.40570	0.953000	0.61014	2.860000	0.48372	2.466000	0.83321	0.655000	0.94253	TCT	G|0.928;A|0.072	0.072	strong		0.398	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		A	183617693	G	A	183617693	3	1	22	1	0	0	0	0	1	0	0	0	796	942	33	2	883	2	APOBEC4	1	183617693	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	280	183617693	65632928	895	6003			5	34	25067373	7	7	810	N	T_G_C_A	6.183909e-07
FAM129A	116496	hgsc.bcm.edu	37	chr1	184764351	184764351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcactgaggcagatgggGtcagaacctaaggtgcagcc	13	11	2	3	rs35543943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:184764351G>A	ENST00000367511.3	-	14	2740	c.2547C>T	c.(2545-2547)gaC>gaT	p.D849D	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	849	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGCAGATGGGGTCAGAACCTA	0.597													G|||	479	0.095647	0.3457	0.0274	5008	,	,		19839	0.0		0.003	False		,,,				2504	0.0				p.D849D		Atlas-SNP	.											.	FAM129A	98	.	0			c.C2547T						PASS	.	G		1198,3208	418.3+/-338.2	175,848,1180	95	75	82		2547	3.8	0	1	dbSNP_126	82	27,8573	17.3+/-56.4	0,27,4273	no	coding-synonymous	FAM129A	NM_052966.2		175,875,5453	AA,AG,GG		0.314,27.1902,9.4187		849/929	184764351	1225,11781	2203	4300	6503	SO:0001819	synonymous_variant	116496	exon14			GATGGGGTCAGAA	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2547C>T	1.37:g.184764351G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	98	44	0.44898	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	CCDS1364.1																																																																																			A|0.101;C|0.000;G|0.899;T|0.000	0.101	strong		0.597	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			A	184764351	G	A	184764351	2	1	22	1	0	0	0	0	0	0	0	1	5436	1252	44	2		2	FAM129A	1	184764351	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1146658	184764351	64486270	896	6004										
FAM129A	116496	hgsc.bcm.edu	37	chr1	184765072	184765072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgagggtctcactacccAgaactcctggcagaatggca	10	12	1	3	rs28927681	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:184765072A>G	ENST00000367511.3	-	14	2019	c.1826T>C	c.(1825-1827)cTg>cCg	p.L609P	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	609				L -> P (in Ref. 7; BAB84965). {ECO:0000305}.	negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCACTACCCAGAACTCCTGG	0.547													a|||	1011	0.201877	0.5477	0.0908	5008	,	,		18374	0.0823		0.0825	False		,,,				2504	0.0593				p.L609P		Atlas-SNP	.											FAM129A,NS,carcinoma,-1,2	FAM129A	98	2	0			c.T1826C						PASS	.	G	PRO/LEU	2016,2390	533.1+/-373.6	468,1080,655	63	69	67		1826	-3.5	0	1	dbSNP_125	67	625,7975	156.6+/-210.4	22,581,3697	yes	missense	FAM129A	NM_052966.2	98	490,1661,4352	GG,GA,AA		7.2674,45.7558,20.306	benign	609/929	184765072	2641,10365	2203	4300	6503	SO:0001583	missense	116496	exon14			CTACCCAGAACTC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1826T>C	1.37:g.184765072A>G	ENSP00000356481:p.Leu609Pro	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	65	32	0.492308	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	395	0.18086080586080586	257	0.5223577235772358	37	0.10220994475138122	41	0.07167832167832168	60	0.079155672823219	a	7.583	0.669083	0.14776	0.457558	0.072674	ENSG00000135842	ENST00000367511	T	0.09911	2.93	5.67	-3.55	0.04639	.	2.968870	0.00698	N	0.000769	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.46803	-0.9165	9	0.07325	T	0.83	3.6762	14.2079	0.65746	0.6039:0.0:0.3961:0.0	rs28927681;rs56623820;rs28927681	609	Q9BZQ8	NIBAN_HUMAN	P	609	ENSP00000356481:L609P	ENSP00000356481:L609P	L	-	2	0	FAM129A	183031695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.348000	0.07740	-1.574000	0.01657	-2.676000	0.00143	CTG	G|0.177;A|0.823	0.177	strong		0.547	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			G	184765072	A	G	184765072	3	3	22	1	0	0	0	0	1	0	0	0	5436	188	7	3	964	3	FAM129A	1	184765072	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	721	184765072	64485549	897	6005										
C1orf26	54823	hgsc.bcm.edu	37	chr1	185143721	185143721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcaagcttgaccatggaAttaaaagccttagtagtcct	10	8	0	1	rs10489579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:185143721A>G	ENST00000367500.4	+	5	607	c.442A>G	c.(442-444)Att>Gtt	p.I148V	SWT1_ENST00000367501.3_Missense_Mutation_p.I148V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	148			I -> V (in dbSNP:rs10489579). {ECO:0000269|PubMed:15489334}.							breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGACCATGGAATTAAAAGCCT	0.368													A|||	2177	0.434704	0.6982	0.3487	5008	,	,		19153	0.2718		0.3439	False		,,,				2504	0.4008				p.I148V		Atlas-SNP	.											.	SWT1	88	.	0			c.A442G						PASS	.	A	VAL/ILE,VAL/ILE	2802,1604	659.4+/-400.6	907,988,308	53	53	53		442,442	0.9	0	1	dbSNP_119	53	3071,5529	467.9+/-367.2	556,1959,1785	yes	missense,missense	SWT1	NM_001105518.1,NM_017673.6	29,29	1463,2947,2093	GG,GA,AA		35.7093,36.4049,45.1561	benign,benign	148/901,148/901	185143721	5873,7133	2203	4300	6503	SO:0001583	missense	54823	exon5			CATGGAATTAAAA	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.442A>G	1.37:g.185143721A>G	ENSP00000356470:p.Ile148Val	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	141	70	0.496454	NM_017673	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	914	0.4184981684981685	350	0.7113821138211383	119	0.3287292817679558	187	0.3269230769230769	258	0.3403693931398417	A	0.583	-0.836082	0.02713	0.635951	0.357093	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.37915	1.17;1.17;1.17	5.35	0.918	0.19386	.	1.040850	0.07571	N	0.918619	T	0.00012	0.0000	L	0.55481	1.735	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.45687	-0.9244	9	0.11794	T	0.64	.	1.757	0.02984	0.2943:0.2806:0.308:0.1171	rs10489579;rs17845931;rs17858910;rs58368482;rs10489579	148	Q5T5J6	SWT1_HUMAN	V	148	ENSP00000356471:I148V;ENSP00000356470:I148V;ENSP00000401413:I148V	ENSP00000356470:I148V	I	+	1	0	SWT1	183410344	0.955000	0.32602	0.002000	0.10522	0.559000	0.35586	0.566000	0.23593	-0.149000	0.11215	0.455000	0.32223	ATT	G|0.396;N|0.000	0.396	strong		0.368	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		G	185143721	A	G	185143721	3	3	22	1	0	0	0	0	1	0	0	0	2035	101	4	2	456	2	C1orf26	1	185143721	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	378649	185143721	64106900	898	6006										
HMCN1	83872	hgsc.bcm.edu	37	chr1	185958737	185958737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtctgcactgccaccaatAcagccggctacgccaaaagg	9	14	1	0	rs7539719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:185958737A>G	ENST00000271588.4	+	21	3395	c.3166A>G	c.(3166-3168)Aca>Gca	p.T1056A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1056A|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1056	Ig-like C2-type 7.		T -> A (in dbSNP:rs7539719).		response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCACCAATACAGCCGGCTA	0.488													G|||	923	0.184305	0.5961	0.0692	5008	,	,		14054	0.006		0.0268	False		,,,				2504	0.0552				p.T1056A		Atlas-SNP	.											.	HMCN1	797	.	0			c.A3166G						PASS	.	G	ALA/THR	2115,2291	601.2+/-389.7	521,1073,609	101	95	97		3166	4.5	0	1	dbSNP_116	97	184,8416	811.2+/-407.1	1,182,4117	yes	missense	HMCN1	NM_031935.2	58	522,1255,4726	GG,GA,AA		2.1395,48.0027,17.6765	benign	1056/5636	185958737	2299,10707	2203	4300	6503	SO:0001583	missense	83872	exon21			ACCAATACAGCCG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3166A>G	1.37:g.185958737A>G	ENSP00000271588:p.Thr1056Ala	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	168	82	0.488095	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	337	0.1543040293040293	292	0.5934959349593496	26	0.0718232044198895	3	0.005244755244755245	16	0.021108179419525065	G	0.034	-1.316804	0.01331	0.480027	0.021395	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66099	-0.19;-0.19	5.45	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050912	0.85682	N	0.000000	T	0.00012	0.0000	N	0.03294	-0.36	0.48236	P	3.8199999999999346E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.44847	-0.9301	9	0.02654	T	1	.	8.5679	0.33552	0.138:0.1258:0.7363:0.0	rs7539719;rs52799885;rs7539719	440;1056	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	A	1056	ENSP00000271588:T1056A;ENSP00000356462:T1056A	ENSP00000271588:T1056A	T	+	1	0	HMCN1	184225360	1.000000	0.71417	0.012000	0.15200	0.005000	0.04900	3.494000	0.53273	0.689000	0.31550	-0.119000	0.15052	ACA	A|0.821;G|0.179	0.179	strong		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185958737	A	G	185958737	3	3	22	1	0	0	0	0	1	0	0	0	7220	391	14	2	3248	2	HMCN1	1	185958737	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	815016	185958737	63291884	899	6007										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186026366	186026366	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttattttgtcttacagCtcctccaagcatcataggaa	6	9	2	0	rs140744695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186026366C>T	ENST00000271588.4	+	46	7374	c.7145C>T	c.(7144-7146)gCt>gTt	p.A2382V	HMCN1_ENST00000367492.2_Splice_Site_p.A2382V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2382					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTTACAGCTCCTCCAAGC	0.363													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17150	0.0		0.0	False		,,,				2504	0.0				p.A2382V		Atlas-SNP	.											.	HMCN1	797	.	0			c.C7145T						PASS	.	C	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	77	77	77		7145	-2.6	0.7	1	dbSNP_134	77	0,8598		0,0,4299	yes	missense-near-splice	HMCN1	NM_031935.2	64	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	benign	2382/5636	186026366	5,12999	2203	4299	6502	SO:0001630	splice_region_variant	83872	exon46			TTACAGCTCCTCC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7145-1C>T	1.37:g.186026366C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.308	-0.602865	0.03744	0.001135	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72167	-0.63;-0.63	5.8	-2.64	0.06114	Immunoglobulin-like fold (1);	0.288142	0.38058	N	0.001832	T	0.32285	0.0824	N	0.00746	-1.225	0.34659	D	0.722457	B	0.09022	0.002	B	0.06405	0.002	T	0.31024	-0.9958	9	.	.	.	.	12.1208	0.53889	0.0:0.2184:0.0:0.7816	.	2382	Q96RW7	HMCN1_HUMAN	V	2382	ENSP00000271588:A2382V;ENSP00000356462:A2382V	.	A	+	2	0	HMCN1	184292989	0.973000	0.33851	0.699000	0.30290	0.417000	0.31264	1.939000	0.40213	-0.338000	0.08413	-0.142000	0.14014	GCT	C|0.999;T|0.001	0.001	strong		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	T	186026366	C	T	186026366	5	4	22	1	0	0	0	0	0	0	1	0	7220	811	28	2	7327	2	HMCN1	1	186026366	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67629	186026366	63224255	900	6008										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186026474	186026474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaattcccctgccttccaTaacctggttcaaagatgggt	9	11	1	1	rs12129650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186026474T>C	ENST00000271588.4	+	46	7482	c.7253T>C	c.(7252-7254)aTa>aCa	p.I2418T	HMCN1_ENST00000367492.2_Missense_Mutation_p.I2418T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2418	Ig-like C2-type 22.		I -> T (in dbSNP:rs12129650). {ECO:0000269|PubMed:14570714, ECO:0000269|Ref.1}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGCCTTCCATAACCTGGTTC	0.413													T|||	2654	0.529952	0.5393	0.6124	5008	,	,		15388	0.5675		0.496	False		,,,				2504	0.455				p.I2418T		Atlas-SNP	.											.	HMCN1	797	.	0			c.T7253C						PASS	.	T	THR/ILE	2446,1960	619.5+/-393.4	686,1074,443	115	115	115		7253	4.7	0.9	1	dbSNP_120	115	4387,4213	583.2+/-391.5	1138,2111,1051	yes	missense	HMCN1	NM_031935.2	89	1824,3185,1494	CC,CT,TT		48.9884,44.4848,47.4627	benign	2418/5636	186026474	6833,6173	2203	4300	6503	SO:0001583	missense	83872	exon46			CTTCCATAACCTG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7253T>C	1.37:g.186026474T>C	ENSP00000271588:p.Ile2418Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	81	81	1	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1198	0.5485347985347986	254	0.516260162601626	216	0.5966850828729282	341	0.5961538461538461	387	0.5105540897097626	T	18.19	3.569521	0.65765	0.555152	0.510116	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72282	-0.64;-0.64	5.8	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183947	0.56097	N	0.000027	T	0.00012	0.0000	M	0.85542	2.76	0.20307	P	0.9999161177	P	0.48998	0.918	B	0.44315	0.446	T	0.47674	-0.9099	9	0.56958	D	0.05	.	11.7655	0.51928	0.0:0.0685:0.0:0.9315	rs12129650;rs52819931;rs57046032;rs12129650	2418	Q96RW7	HMCN1_HUMAN	T	2418	ENSP00000271588:I2418T;ENSP00000356462:I2418T	ENSP00000271588:I2418T	I	+	2	0	HMCN1	184293097	1.000000	0.71417	0.907000	0.35723	0.830000	0.47004	5.743000	0.68655	1.020000	0.39573	-0.263000	0.10527	ATA	C|0.538;N|0.000	0.538	strong		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186026474	T	C	186026474	3	2	22	1	0	0	0	0	1	0	0	0	7220	1406	49	2	7435	2	HMCN1	1	186026474	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	108	186026474	63224147	901	6009										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186031041	186031041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgctggccaatatacttgCgttgtaaggaatgcagctgg	13	7	0	0	rs7522627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186031041C>T	ENST00000271588.4	+	47	7600	c.7371C>T	c.(7369-7371)tgC>tgT	p.C2457C	HMCN1_ENST00000367492.2_Silent_p.C2457C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2457	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATATACTTGCGTTGTAAGGA	0.378													T|||	3277	0.654353	0.8495	0.647	5008	,	,		16476	0.5903		0.5348	False		,,,				2504	0.5849				p.C2457C		Atlas-SNP	.											.	HMCN1	797	.	0			c.C7371T						PASS	.	T		3571,835	333.6+/-303.0	1454,663,86	124	136	132		7371	1.9	0.9	1	dbSNP_116	132	4602,3998	553.3+/-386.3	1252,2098,950	no	coding-synonymous	HMCN1	NM_031935.2		2706,2761,1036	TT,TC,CC		46.4884,18.9514,37.1598		2457/5636	186031041	8173,4833	2203	4300	6503	SO:0001819	synonymous_variant	83872	exon47			TACTTGCGTTGTA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7371C>T	1.37:g.186031041C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	110	108	0.981818	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			C|0.372;T|0.628	0.628	strong		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186031041	C	T	186031041	2	4	22	1	0	0	0	0	0	0	0	1	7220	776	27	1		1	HMCN1	1	186031041	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4567	186031041	63219580	902	6010										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186043899	186043899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatccgatgatcatgttaaTattgctgcgaatggacacac	8	8	1	1	rs77026548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186043899T>C	ENST00000271588.4	+	53	8395	c.8166T>C	c.(8164-8166)aaT>aaC	p.N2722N	HMCN1_ENST00000367492.2_Silent_p.N2722N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2722	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCATGTTAATATTGCTGCGA	0.383													T|||	153	0.0305511	0.1104	0.0086	5008	,	,		14973	0.0		0.001	False		,,,				2504	0.0				p.N2722N		Atlas-SNP	.											.	HMCN1	797	.	0			c.T8166C						PASS	.	T		425,3981	208.2+/-229.3	24,377,1802	113	109	110		8166	-2	0.1	1	dbSNP_131	110	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	HMCN1	NM_031935.2		24,383,6096	CC,CT,TT		0.0698,9.6459,3.3139		2722/5636	186043899	431,12575	2203	4300	6503	SO:0001819	synonymous_variant	83872	exon53			TGTTAATATTGCT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8166T>C	1.37:g.186043899T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			T|0.967;C|0.033	0.033	strong		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186043899	T	C	186043899	2	2	22	1	0	0	0	0	0	0	0	1	7220	1403	49	2		2	HMCN1	1	186043899	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12858	186043899	63206722	903	6011										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186050417	186050417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaagagtgcactgatagAgtgtttatccagtggcagcc	12	8	0	3	rs10798035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186050417A>G	ENST00000271588.4	+	56	8907	c.8678A>G	c.(8677-8679)gAg>gGg	p.E2893G	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2893G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2893	Ig-like C2-type 27.		E -> G (in dbSNP:rs10798035). {ECO:0000269|PubMed:14570714}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCACTGATAGAGTGTTTATCC	0.463													A|||	2918	0.582668	0.6952	0.6311	5008	,	,		14601	0.5694		0.499	False		,,,				2504	0.4959				p.E2893G		Atlas-SNP	.											HMCN1,NS,carcinoma,0,2	HMCN1	797	2	0			c.A8678G						PASS	.	A	GLY/GLU	2939,1467	678.7+/-403.6	1003,933,267	159	152	155		8678	5.9	1	1	dbSNP_120	155	4279,4321	576.2+/-390.4	1079,2121,1100	yes	missense	HMCN1	NM_031935.2	98	2082,3054,1367	GG,GA,AA		49.7558,33.2955,44.5025	possibly-damaging	2893/5636	186050417	7218,5788	2203	4300	6503	SO:0001583	missense	83872	exon56			TGATAGAGTGTTT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8678A>G	1.37:g.186050417A>G	ENSP00000271588:p.Glu2893Gly	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1286	0.5888278388278388	327	0.6646341463414634	228	0.6298342541436464	344	0.6013986013986014	387	0.5105540897097626	A	27.2	4.808057	0.90707	0.667045	0.497558	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.30182	1.54;1.54	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188863	0.56097	D	0.000030	T	0.00012	0.0000	M	0.73598	2.24	0.09310	P	0.99999577304	D	0.76494	0.999	D	0.83275	0.996	T	0.46638	-0.9177	9	0.48119	T	0.1	.	14.8163	0.70036	1.0:0.0:0.0:0.0	rs10798035;rs52812505;rs56779083;rs10798035	2893	Q96RW7	HMCN1_HUMAN	G	2893	ENSP00000271588:E2893G;ENSP00000356462:E2893G	ENSP00000271588:E2893G	E	+	2	0	HMCN1	184317040	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	8.904000	0.92590	2.241000	0.73720	0.533000	0.62120	GAG	A|0.425;G|0.575	0.575	strong		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186050417	A	G	186050417	3	3	22	1	0	0	0	0	1	0	0	0	7220	304	11	3	8900	3	HMCN1	1	186050417	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6518	186050417	63200204	904	6012										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186057347	186057347	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaatcctgtgacattaacAtgtgatgccactgggatccc	9	11	0	2	rs61745374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186057347A>T	ENST00000271588.4	+	62	9745	c.9516A>T	c.(9514-9516)acA>acT	p.T3172T	HMCN1_ENST00000367492.2_Silent_p.T3172T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3172	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTAACATGTGATGCCA	0.428													A|||	206	0.0411342	0.1498	0.0101	5008	,	,		17561	0.0		0.001	False		,,,				2504	0.0				p.T3172T		Atlas-SNP	.											.	HMCN1	797	.	0			c.A9516T						PASS	.	A		558,3848	250.9+/-257.8	49,460,1694	98	87	91		9516	-11.3	0	1	dbSNP_129	91	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	HMCN1	NM_031935.2		49,466,5988	TT,TA,AA		0.0698,12.6645,4.3365		3172/5636	186057347	564,12442	2203	4300	6503	SO:0001819	synonymous_variant	83872	exon62			ATTAACATGTGAT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9516A>T	1.37:g.186057347A>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	50	0.684932	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			A|0.953;T|0.047	0.047	strong		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186057347	A	T	186057347	2	4	22	1	0	0	0	0	0	0	0	1	7220	204	8	5		5	HMCN1	1	186057347	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6930	186057347	63193274	905	6013										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186101539	186101539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcatgagtctgactctgcAaagtaagctgcttaatgaaa	9	8	2	3	rs10911825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186101539A>G	ENST00000271588.4	+	86	13539	c.13310A>G	c.(13309-13311)cAa>cGa	p.Q4437R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4437R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4437			Q -> R (in dbSNP:rs10911825).		response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACTCTGCAAAGTAAGCTG	0.368													A|||	2426	0.484425	0.6498	0.4841	5008	,	,		17276	0.5685		0.2634	False		,,,				2504	0.4018				p.Q4437R		Atlas-SNP	.											.	HMCN1	797	.	0			c.A13310G						PASS	.	A	ARG/GLN	2553,1853	618.3+/-393.1	774,1005,424	80	76	77		13310	5.4	1	1	dbSNP_120	77	2258,6340	370.6+/-335.9	308,1642,2349	yes	missense	HMCN1	NM_031935.2	43	1082,2647,2773	GG,GA,AA		26.2619,42.0563,36.9963	probably-damaging	4437/5636	186101539	4811,8193	2203	4299	6502	SO:0001583	missense	83872	exon86			CTCTGCAAAGTAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13310A>G	1.37:g.186101539A>G	ENSP00000271588:p.Gln4437Arg	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	113	113	1	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1038	0.47527472527472525	324	0.6585365853658537	163	0.45027624309392267	341	0.5961538461538461	210	0.2770448548812665	A	22.4	4.290972	0.80914	0.579437	0.262619	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72167	1.58;-0.63	5.37	5.37	0.77165	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.55743	1.74	0.09310	P	0.99999941475	P	0.41008	0.735	P	0.44772	0.46	T	0.44636	-0.9315	9	0.13853	T	0.58	.	15.6642	0.77213	1.0:0.0:0.0:0.0	rs10911825;rs10911825	4437	Q96RW7	HMCN1_HUMAN	R	4437	ENSP00000271588:Q4437R;ENSP00000356462:Q4437R	ENSP00000271588:Q4437R	Q	+	2	0	HMCN1	184368162	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.537000	0.90631	2.141000	0.66446	0.533000	0.62120	CAA	A|0.569;G|0.431	0.431	strong		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186101539	A	G	186101539	3	3	22	1	0	0	0	0	1	0	0	0	7220	130	5	2	13652	2	HMCN1	1	186101539	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44192	186101539	63149082	906	6014										
C1orf27	54953	hgsc.bcm.edu	37	chr1	186355168	186355168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagttcttggagtatttattAttactactttagaactggca	7	5	1	1	rs115570554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:186355168A>G	ENST00000287859.6	+	4	408	c.283A>G	c.(283-285)Att>Gtt	p.I95V	C1orf27_ENST00000367470.3_Missense_Mutation_p.I95V|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Missense_Mutation_p.I95V	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	95						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AGTATTTATTATTACTACTTT	0.289													A|||	21	0.00419329	0.0151	0.0014	5008	,	,		15027	0.0		0.0	False		,,,				2504	0.0				p.I95V		Atlas-SNP	.											.	C1orf27	41	.	0			c.A283G						PASS	.	A	VAL/ILE,,VAL/ILE	36,3532		0,36,1748	54	51	52		283,,283	2.5	1	1	dbSNP_132	52	0,8118		0,0,4059	yes	missense,intron,missense	C1orf27	NM_001164245.1,NM_001164246.1,NM_017847.5	29,,29	0,36,5807	GG,GA,AA		0.0,1.009,0.3081	benign,,benign	95/432,,95/455	186355168	36,11650	1784	4059	5843	SO:0001583	missense	54953	exon4			TTTATTATTACTA	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.283A>G	1.37:g.186355168A>G	ENSP00000287859:p.Ile95Val	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	56	24	0.428571	NM_001164245	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	A	1.145	-0.648372	0.03506	0.01009	0.0	ENSG00000157181	ENST00000367470;ENST00000432021;ENST00000287859	T;T;T	0.38401	1.14;1.14;1.14	4.97	2.47	0.30058	.	0.271361	0.41500	N	0.000862	T	0.12860	0.0312	L	0.29908	0.895	0.33076	D	0.535996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22382	-1.0218	10	0.05833	T	0.94	-21.9948	4.69	0.12776	0.6635:0.1637:0.1728:0.0	.	95;95	Q5SWX8-2;Q5SWX8	.;ODR4_HUMAN	V	95	ENSP00000356440:I95V;ENSP00000402029:I95V;ENSP00000287859:I95V	ENSP00000287859:I95V	I	+	1	0	C1orf27	184621791	0.727000	0.28069	0.998000	0.56505	0.985000	0.73830	0.258000	0.18387	0.851000	0.35264	-0.263000	0.10527	ATT	A|0.997;G|0.003	0.003	strong		0.289	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		G	186355168	A	G	186355168	3	3	22	1	0	0	0	0	1	0	0	0	2036	449	16	2	293	2	C1orf27	1	186355168	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	253629	186355168	62895453	907	6015										
RGS13	6003	hgsc.bcm.edu	37	chr1	192613522	192613522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatgaatctaagaggcccCcttcaaagtaagtagcattt	9	8	2	3	rs146420296		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:192613522C>T	ENST00000391995.2	+	4	346	c.58C>T	c.(58-60)Cct>Tct	p.P20S	RGS13_ENST00000543215.1_Missense_Mutation_p.P20S	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	20					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TAAGAGGCCCCCTTCAAAGTA	0.289																																					p.P20S		Atlas-SNP	.											.	RGS13	31	.	0			c.C58T						PASS	.	C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	122	135	131		58,58	3.7	0.5	1	dbSNP_134	131	0,8598		0,0,4299	no	missense,missense	RGS13	NM_002927.4,NM_144766.2	74,74	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	20/160,20/160	192613522	1,13003	2203	4299	6502	SO:0001583	missense	6003	exon4			AGGCCCCCTTCAA	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"Regulators of G-protein signaling"	9995	protein-coding gene	gene with protein product		607190	"regulator of G-protein signalling 13"			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.58C>T	1.37:g.192613522C>T	ENSP00000375853:p.Pro20Ser	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	214	96	0.448598	NM_002927	Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	4.758	0.140916	0.09083	2.27E-4	0.0	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.29655	1.56;1.56	5.62	3.67	0.42095	.	0.906400	0.09503	N	0.793331	T	0.18130	0.0435	N	0.24115	0.695	0.23653	N	0.997194	B	0.06786	0.001	B	0.06405	0.002	T	0.28073	-1.0055	10	0.07175	T	0.84	.	8.174	0.31270	0.0:0.7495:0.1625:0.0881	.	20	O14921	RGS13_HUMAN	S	20	ENSP00000375853:P20S;ENSP00000442837:P20S	ENSP00000375853:P20S	P	+	1	0	RGS13	190880145	0.086000	0.21541	0.478000	0.27316	0.701000	0.40568	1.077000	0.30741	1.460000	0.47911	0.655000	0.94253	CCT	C|1.000;T|0.000	0.000	weak		0.289	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		T	192613522	C	T	192613522	3	4	22	1	0	0	0	0	1	0	0	0	13296	623	22	2	60	2	RGS13	1	192613522	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6258354	192613522	56637099	908	6016										
RGS13	6003	hgsc.bcm.edu	37	chr1	192628623	192628623	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgtaccaaaaacttttGaaaactatgcagtccaacaa	5	8	0	1	rs16834603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:192628623G>C	ENST00000391995.2	+	7	738	c.450G>C	c.(448-450)ttG>ttC	p.L150F	RGS13_ENST00000543215.1_Missense_Mutation_p.L150F|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.		L -> F (in dbSNP:rs16834603). {ECO:0000269|Ref.2}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AAAAACTTTTGAAAACTATGC	0.323													G|||	207	0.0413339	0.1513	0.0101	5008	,	,		16977	0.0		0.0	False		,,,				2504	0.0				p.L150F		Atlas-SNP	.											.	RGS13	31	.	0			c.G450C						PASS	.	G	PHE/LEU,PHE/LEU	577,3829	246.2+/-254.9	48,481,1674	46	45	45		450,450	2.7	1	1	dbSNP_123	45	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	RGS13	NM_002927.4,NM_144766.2	22,22	48,485,5970	CC,CG,GG		0.0465,13.0958,4.4672	benign,benign	150/160,150/160	192628623	581,12425	2203	4300	6503	SO:0001583	missense	6003	exon7			ACTTTTGAAAACT	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"Regulators of G-protein signaling"	9995	protein-coding gene	gene with protein product		607190	"regulator of G-protein signalling 13"			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.450G>C	1.37:g.192628623G>C	ENSP00000375853:p.Leu150Phe	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	181	94	0.519337	NM_002927	Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	CCDS1376.1	71	0.03250915750915751	70	0.14227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	G	13.88	2.368730	0.42003	0.130958	4.65E-4	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.36157	1.27;1.27	5.89	2.73	0.32206	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.277274	0.34725	N	0.003740	T	0.00300	0.0009	M	0.75085	2.285	0.31991	P	0.6046279999999999	B	0.29531	0.247	B	0.35470	0.203	T	0.11743	-1.0575	9	0.62326	D	0.03	.	5.6215	0.17459	0.0815:0.1835:0.6077:0.1273	rs16834603;rs52813648;rs16834603	150	O14921	RGS13_HUMAN	F	150	ENSP00000375853:L150F;ENSP00000442837:L150F	ENSP00000375853:L150F	L	+	3	2	RGS13	190895246	0.082000	0.21442	1.000000	0.80357	0.888000	0.51559	0.259000	0.18405	1.497000	0.48584	0.591000	0.81541	TTG	G|0.955;C|0.045	0.045	strong		0.323	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		C	192628623	G	C	192628623	3	2	22	1	0	0	0	0	1	0	0	0	13296	1281	45	4	464	4	RGS13	1	192628623	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15101	192628623	56621998	909	6017										
KCNT2	343450	hgsc.bcm.edu	37	chr1	196303117	196303117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcttatttctttgcttccCtctgtaggaagagacagggt	9	9	3	1	rs116401401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:196303117C>T	ENST00000294725.9	-	17	2772	c.1857G>A	c.(1855-1857)gaG>gaA	p.E619E	KCNT2_ENST00000367431.4_Silent_p.E569E|KCNT2_ENST00000451324.2_Silent_p.E230E|KCNT2_ENST00000367433.5_Silent_p.E619E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.E569E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	619					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTTGCTTCCCTCTGTAGGAA	0.393													C|||	25	0.00499201	0.0166	0.0043	5008	,	,		16218	0.0		0.0	False		,,,				2504	0.0				p.E619E		Atlas-SNP	.											.	KCNT2	243	.	0			c.G1857A						PASS	.	C		52,4354	52.3+/-87.9	0,52,2151	126	115	118		1857	0.6	1	1	dbSNP_132	118	0,8600		0,0,4300	no	coding-synonymous	KCNT2	NM_198503.2		0,52,6451	TT,TC,CC		0.0,1.1802,0.3998		619/1136	196303117	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	343450	exon17			GCTTCCCTCTGTA	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1857G>A	1.37:g.196303117C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	147	72	0.489796	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																			C|0.995;T|0.005	0.005	strong		0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196303117	C	T	196303117	2	4	22	1	0	0	0	0	0	0	0	1	8092	680	24	2		2	KCNT2	1	196303117	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3674494	196303117	52947504	910	6018										
CFH	3075	hgsc.bcm.edu	37	chr1	196706659	196706659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacggaaccattaattcatCcaggtcttcacaagaaagtt	6	10	3	1	rs114743644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:196706659C>A	ENST00000367429.4	+	17	2891	c.2651C>A	c.(2650-2652)tCc>tAc	p.S884Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	884	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTAATTCATCCAGGTCTTCA	0.338													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		13290	0.0		0.0	False		,,,				2504	0.0				p.S884Y		Atlas-SNP	.											.	CFH	251	.	0			c.C2651A						PASS	.	C	TYR/SER	13,4393		0,13,2190	72	68	70		2651	3.6	0	1	dbSNP_133	70	0,8600		0,0,4300	yes	missense	CFH	NM_000186.3	144	0,13,6490	AA,AC,CC		0.0,0.2951,0.1	probably-damaging	884/1232	196706659	13,12993	2203	4300	6503	SO:0001583	missense	3075	exon17			ATTCATCCAGGTC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2651C>A	1.37:g.196706659C>A	ENSP00000356399:p.Ser884Tyr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.20	2.165002	0.38217	0.002951	0.0	ENSG00000000971	ENST00000367429	T	0.64438	-0.1	5.52	3.61	0.41365	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50837	0.1639	M	0.67625	2.065	0.09310	N	0.999999	P	0.39250	0.665	B	0.35727	0.209	T	0.42032	-0.9475	9	0.07482	T	0.82	.	6.1966	0.20553	0.1744:0.6935:0.0:0.1321	.	884	P08603	CFAH_HUMAN	Y	884	ENSP00000356399:S884Y	ENSP00000356399:S884Y	S	+	2	0	CFH	194973282	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.262000	0.18460	1.455000	0.47813	0.650000	0.86243	TCC	C|0.999;A|0.001	0.001	strong		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196706659	C	A	196706659	3	1	22	1	0	0	0	0	1	0	0	0	3283	855	30	4	2735	4	CFH	1	196706659	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	403542	196706659	52543962	911	6019										
CFHR4	3080	hgsc.bcm.edu	37	chr1	196887411	196887411	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaaaaagtgacataaaaTattatgcaaaaacaggggat	9	3	0	1	rs200907976		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:196887411T>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.Y291H|CFHR4_ENST00000367416.2_Missense_Mutation_p.Y537H|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y291H|CFHR4_ENST00000608469.1_Missense_Mutation_p.Y161H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TGACATAAAATATTATGCAAA	0.294													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15761	0.0		0.0	False		,,,				2504	0.0				p.Y538H		Atlas-SNP	.											.	CFHR4	141	.	0			c.T1612C						PASS	.	T	HIS/TYR,HIS/TYR,HIS/TYR	6,4396	11.4+/-27.6	1,4,2196	112	122	119		1612,1609,871	-6.5	0	1		119	0,8598		0,0,4299	yes	missense,missense,missense	CFHR4	NM_001201550.2,NM_001201551.1,NM_006684.4	83,83,83	1,4,6495	CC,CT,TT		0.0,0.1363,0.0462	benign,benign,benign	538/579,537/578,291/332	196887411	6,12994	2201	4299	6500	SO:0001627	intron_variant	10877	exon10			ATAAAATATTATG	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31174T>C	1.37:g.196887411T>C		Somatic	354	1	0.00282486		WXS	Illumina HiSeq	Phase_I	393	216	0.549618	NM_001201550	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37		.	.	.	.	.	.	.	.	.	.	T	10.95	1.496577	0.26861	0.001363	0.0	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.82984	-1.67;-1.67;-1.67	3.24	-6.48	0.01896	Complement control module (1);	.	.	.	.	T	0.60130	0.2245	N	0.08118	0	0.09310	N	1	B;D;P	0.58970	0.069;0.984;0.826	B;P;B	0.46796	0.032;0.527;0.188	T	0.58901	-0.7554	9	0.23302	T	0.38	.	0.0302	0.00005	0.2859:0.209:0.2273:0.2777	.	537;538;291	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	537;291;291;291	ENSP00000356386:Y537H;ENSP00000356388:Y291H;ENSP00000251424:Y291H	ENSP00000251424:Y291H	Y	+	1	0	CFHR4	195154034	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.116000	0.00597	-2.574000	0.00466	-0.483000	0.04790	TAT	.	.	weak		0.294	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		C	196887411	T	C	196887411	1	2	22	0	1	0	0	0	0	0	0	0	3287	1406	49	2		2	CFHR4	1	196887411	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	180752	196887411	52363210	912	6020										
ASPM	259266	hgsc.bcm.edu	37	chr1	197093361	197093361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttattaataagatcatcaGaatggcatgatagtagagat	8	4	3	4	rs16841081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:197093361G>A	ENST00000367409.4	-	13	3525	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	ASPM_ENST00000367408.1_Missense_Mutation_p.S340F|ASPM_ENST00000294732.7_Missense_Mutation_p.S1090F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1090			S -> F (in dbSNP:rs16841081). {ECO:0000269|PubMed:15489334}.		developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGATCATCAGAATGGCATGA	0.303													G|||	224	0.0447284	0.1626	0.013	5008	,	,		15011	0.0		0.0	False		,,,				2504	0.0				p.S1090F		Atlas-SNP	.											.	ASPM	444	.	0			c.C3269T						PASS	.	G	PHE/SER,PHE/SER	634,3768	268.6+/-268.5	45,544,1612	93	95	94		3269,3269	3.6	0	1	dbSNP_123	94	2,8550	1.2+/-3.3	0,2,4274	yes	missense,missense	ASPM	NM_001206846.1,NM_018136.4	155,155	45,546,5886	AA,AG,GG		0.0234,14.4025,4.9097	probably-damaging,probably-damaging	1090/1893,1090/3478	197093361	636,12318	2201	4276	6477	SO:0001583	missense	259266	exon13			TCATCAGAATGGC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3269C>T	1.37:g.197093361G>A	ENSP00000356379:p.Ser1090Phe	Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	284	138	0.485915	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	83	0.038003663003663	77	0.1565040650406504	6	0.016574585635359115	0	0.0	0	0.0	G	7.626	0.677857	0.14841	0.144025	2.34E-4	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;1.55;1.26	5.53	3.64	0.41730	Calponin homology domain (1);	0.608927	0.16421	N	0.215176	T	0.00271	0.0008	M	0.62723	1.935	0.80722	P	0.0	B;B	0.21520	0.006;0.057	B;B	0.15870	0.005;0.014	T	0.14117	-1.0484	9	0.66056	D	0.02	.	5.9506	0.19245	0.2999:0.0:0.7001:0.0	rs16841081;rs52835075;rs16841081	1090;1090	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	F	1090;1090;340	ENSP00000356379:S1090F;ENSP00000294732:S1090F;ENSP00000356378:S340F	ENSP00000294732:S1090F	S	-	2	0	ASPM	195359984	0.002000	0.14202	0.010000	0.14722	0.290000	0.27261	1.303000	0.33470	1.485000	0.48380	0.585000	0.79938	TCT	G|0.952;A|0.048	0.048	strong		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197093361	G	A	197093361	3	1	22	1	0	0	0	0	1	0	0	0	1056	942	33	2	7228	2	ASPM	1	197093361	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205950	197093361	52157260	913	6021										
C1orf53	388722	hgsc.bcm.edu	37	chr1	197872001	197872001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagcgaagagttaaccgcGgcggagcgacagatcgcgga	17	9	0	3	rs73083807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:197872001G>A	ENST00000367393.3	+	1	225	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	74										endometrium(1)|lung(1)	2						AGTTAACCGCGGCGGAGCGAC	0.756													G|||	123	0.0245607	0.0877	0.0101	5008	,	,		10681	0.0		0.0	False		,,,				2504	0.0				p.A74A		Atlas-SNP	.											.	C1orf53	18	.	0			c.G222A						PASS	.	G		263,3423		4,255,1584	7	8	8		222	0.1	0	1	dbSNP_130	8	3,8019		0,3,4008	no	coding-synonymous	C1orf53	NM_001024594.2		4,258,5592	AA,AG,GG		0.0374,7.1351,2.272		74/146	197872001	266,11442	1843	4011	5854	SO:0001819	synonymous_variant	388722	exon1			AACCGCGGCGGAG	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.222G>A	1.37:g.197872001G>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_001024594	A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	CCDS44290.1																																																																																			G|0.972;A|0.028	0.028	strong		0.756	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		A	197872001	G	A	197872001	2	1	22	1	0	0	0	0	0	0	0	1	2045	1103	39	1		1	C1orf53	1	197872001	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	778640	197872001	51378620	914	6022										
ATP6V1G3	127124	hgsc.bcm.edu	37	chr1	198498234	198498234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattgttttagtcgaaactCtttatctctctgcattctgt	6	8	4	1	rs16843254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:198498234C>G	ENST00000367382.1	-	2	244	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.E60Q|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.E60Q|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.E54Q			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	54			E -> Q (in dbSNP:rs16843254).		cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AGTCGAAACTCTTTATCTCTC	0.323													C|||	155	0.0309505	0.1142	0.0058	5008	,	,		9490	0.0		0.0	False		,,,				2504	0.0				p.E54Q		Atlas-SNP	.											.	ATP6V1G3	26	.	0			c.G160C						PASS	.	C	GLN/GLU,	460,3944	219.4+/-237.2	26,408,1768	148	140	143		160,	3.3	0	1	dbSNP_123	143	5,8593	3.7+/-12.6	0,5,4294	yes	missense,utr-3	ATP6V1G3	NM_133262.2,NM_133326.1	29,	26,413,6062	GG,GC,CC		0.0582,10.445,3.5764	possibly-damaging,	54/119,	198498234	465,12537	2202	4299	6501	SO:0001583	missense	127124	exon3			GAAACTCTTTATC	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"ATPases / V-type"	18265	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.160G>C	1.37:g.198498234C>G	ENSP00000356352:p.Glu54Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	100	58	0.58	NM_133262	Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	CCDS1395.1	62	0.028388278388278388	61	0.12398373983739837	1	0.0027624309392265192	0	0.0	0	0.0	C	8.216	0.801462	0.16397	0.10445	5.82E-4	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.50548	0.74;0.79;0.74;0.79	5.19	3.31	0.37934	.	0.194878	0.53938	N	0.000054	T	0.01254	0.0041	L	0.53729	1.69	0.31164	N	0.704056	D;D	0.67145	0.996;0.989	P;P	0.60473	0.801;0.875	T	0.15780	-1.0425	10	0.15499	T	0.54	-20.9559	15.1522	0.72709	0.0:0.732:0.268:0.0	rs16843254;rs16843254	60;54	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	Q	54;60;54;60	ENSP00000356352:E54Q;ENSP00000356351:E60Q;ENSP00000281087:E54Q;ENSP00000417171:E60Q	ENSP00000281087:E54Q	E	-	1	0	ATP6V1G3	196764857	1.000000	0.71417	0.044000	0.18714	0.074000	0.17049	3.337000	0.52120	0.682000	0.31407	-0.127000	0.14921	GAG	C|0.959;G|0.041	0.041	strong		0.323	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		G	198498234	C	G	198498234	3	3	22	1	0	0	0	0	1	0	0	0	1188	922	32	4	204	4	ATP6V1G3	1	198498234	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	626233	198498234	50752387	915	6023										
NR5A2	2494	hgsc.bcm.edu	37	chr1	200143281	200143281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctactacaagcacctgaaCggggatgtgccctataataa	8	11	1	1	rs1060060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200143281C>T	ENST00000367362.3	+	8	1815	c.1569C>T	c.(1567-1569)aaC>aaT	p.N523N	NR5A2_ENST00000236914.3_Silent_p.N477N|NR5A2_ENST00000544748.1_Silent_p.N451N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	523					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCACCTGAACGGGGATGTGC	0.448													C|||	1775	0.354433	0.3669	0.3213	5008	,	,		17133	0.5179		0.2913	False		,,,				2504	0.2577				p.C523C	Melanoma(179;1138 2773 15678 26136)	Atlas-SNP	.											NR5A2,NS,carcinoma,+1,1	NR5A2	83	1	0			c.C1569T						PASS	.	C	,	1499,2907	478.1+/-358.1	267,965,971	60	55	56		1431,1569	-0.3	1	1	dbSNP_86	56	2522,6078	413.5+/-351.2	386,1750,2164	no	coding-synonymous,coding-synonymous	NR5A2	NM_003822.3,NM_205860.1	,	653,2715,3135	TT,TC,CC		29.3256,34.0218,30.9165	,	477/496,523/542	200143281	4021,8985	2203	4300	6503	SO:0001819	synonymous_variant	2494	exon8			CCTGAACGGGGAT	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1569C>T	1.37:g.200143281C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	92	44	0.478261	NM_205860	B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	CCDS1401.1																																																																																			T|0.348;G|0.007	0.348	strong		0.448	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			T	200143281	C	T	200143281	2	4	22	1	0	0	0	0	0	0	0	1	10636	535	19	1		1	NR5A2	1	200143281	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1645047	200143281	49107340	916	6024										
DDX59	83479	hgsc.bcm.edu	37	chr1	200635550	200635550	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaccacagacaacacagaTgggttcccctggttctgccc					rs3795634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200635550T>C	ENST00000331314.6	-	2	532	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	DDX59_ENST00000367348.3_Missense_Mutation_p.I107V|DDX59_ENST00000447706.2_Missense_Mutation_p.I107V	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	107			I -> V (in dbSNP:rs3795634).			cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACAACACAGATGGGTTCCCCT	0.463													C|||	1094	0.21845	0.1664	0.2392	5008	,	,		21100	0.4365		0.0696	False		,,,				2504	0.2025				p.I107V		Atlas-SNP	.											.	DDX59	117	.	0			c.A319G						PASS	.	C	VAL/ILE	639,3767	766.7+/-413.5	47,545,1611	70	70	70		319	4.3	0.1	1	dbSNP_107	70	535,8065	795.4+/-407.5	11,513,3776	yes	missense	DDX59	NM_001031725.4	29	58,1058,5387	CC,CT,TT		6.2209,14.503,9.0266	benign	107/620	200635550	1174,11832	2203	4300	6503	SO:0001583	missense	83479	exon2			CACAGATGGGTTC	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.319A>G	1.37:g.200635550T>C	ENSP00000330460:p.Ile107Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_001031725	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	434	0.1987179487179487	78	0.15853658536585366	67	0.1850828729281768	231	0.40384615384615385	58	0.07651715039577836	C	4.298	0.054574	0.08291	0.14503	0.062209	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.24	4.32	0.51571	Zinc finger, HIT-type (1);	0.058799	0.64402	N	0.000002	T	0.00012	0.0000	N	0.00960	-1.095	0.46096	P	0.0011339999999999684	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42932	-0.9422	9	0.02654	T	1	-14.6233	11.8633	0.52478	0.0:0.8574:0.0:0.1426	rs3795634;rs52791317;rs56843782;rs3795634	107;107	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	V	107	ENSP00000394367:I107V;ENSP00000356317:I107V;ENSP00000330460:I107V;ENSP00000391312:I107V	ENSP00000330460:I107V	I	-	1	0	DDX59	198902173	0.984000	0.35163	0.063000	0.19743	0.742000	0.42306	2.697000	0.47060	0.620000	0.30215	-0.222000	0.12452	ATC	T|0.871;C|0.129	0.129	strong		0.463	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		C	200635550	T	C	200635550	3	2	22	1	0	0	0	0	1	0	0	0	4376	1464	51	2	1568	2	DDX59	1	200635550	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	492269	200635550	48615071	917	6025	125	2								
DDX59	83479	hgsc.bcm.edu	37	chr1	200635560	200635560	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacacagatgggttccccTggttctgcccagcgctgtgt					rs3795633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200635560T>C	ENST00000331314.6	-	2	522	c.309A>G	c.(307-309)ccA>ccG	p.P103P	DDX59_ENST00000367348.3_Silent_p.P103P|DDX59_ENST00000447706.2_Silent_p.P103P	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	103						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGGGTTCCCCTGGTTCTGCCC	0.478													C|||	1094	0.21845	0.1664	0.2392	5008	,	,		20274	0.4365		0.0696	False		,,,				2504	0.2025				p.P103P		Atlas-SNP	.											.	DDX59	117	.	0			c.A309G						PASS	.	C		639,3767	766.3+/-413.4	47,545,1611	67	67	67		309	-10.7	0.2	1	dbSNP_107	67	535,8065	795.2+/-407.5	11,513,3776	no	coding-synonymous	DDX59	NM_001031725.4		58,1058,5387	CC,CT,TT		6.2209,14.503,9.0266		103/620	200635560	1174,11832	2203	4300	6503	SO:0001819	synonymous_variant	83479	exon2			TTCCCCTGGTTCT	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.309A>G	1.37:g.200635560T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	152	151	0.993421	NM_001031725	Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	CCDS30964.1																																																																																			T|0.871;C|0.129	0.129	strong		0.478	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		C	200635560	T	C	200635560	2	2	22	1	0	0	0	0	0	0	0	1	4376	1567	55	3		3	DDX59	1	200635560	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	200635560	48615061	918	6026	125	2								
CAMSAP1L1	23271	hgsc.bcm.edu	37	chr1	200776641	200776641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccctatgatattgaggaCgctgtcatgtactggataaa	10	8	1	2	rs7552353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200776641C>T	ENST00000236925.4	+	3	586	c.537C>T	c.(535-537)gaC>gaT	p.D179D	CAMSAP2_ENST00000358823.2_Silent_p.D179D|CAMSAP2_ENST00000413307.2_Silent_p.D179D			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	179					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATATTGAGGACGCTGTCATGT	0.368													C|||	1259	0.251398	0.2216	0.2738	5008	,	,		14960	0.3552		0.0994	False		,,,				2504	0.3252				p.D179D		Atlas-SNP	.											.	.	.	.	0			c.C537T						PASS	.	C		904,3502	350.3+/-310.7	99,706,1398	118	111	114		537	-0.2	1	1	dbSNP_116	114	698,7902	172.6+/-223.3	27,644,3629	no	coding-synonymous	CAMSAP2	NM_203459.1		126,1350,5027	TT,TC,CC		8.1163,20.5175,12.3174		179/1479	200776641	1602,11404	2203	4300	6503	SO:0001819	synonymous_variant	23271	exon3			TGAGGACGCTGTC	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.537C>T	1.37:g.200776641C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	63	36	0.571429	NM_203459	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37																																																																																				C|0.838;T|0.162	0.162	strong		0.368	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		T	200776641	C	T	200776641	2	4	22	1	0	0	0	0	0	0	0	1	2612	535	19	1		1	CAMSAP1L1	1	200776641	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	141081	200776641	48473980	919	6027										
C1orf106	55765	hgsc.bcm.edu	37	chr1	200860731	200860731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggccgcagggaggctcgGggggagggaagatggcctgg	23	8	0	1	rs141245080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200860731G>A	ENST00000367342.4	+	1	263	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	21										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGGAGGCTCGGGGGGAGGGAA	0.622													G|||	43	0.00858626	0.0303	0.0029	5008	,	,		15948	0.0		0.001	False		,,,				2504	0.0				p.R35R		Atlas-SNP	.											.	C1orf106	59	.	0			c.G105A						PASS	.	G		142,4264	94.8+/-133.5	3,136,2064	25	29	27		63	1.5	0	1	dbSNP_134	27	1,8599		0,1,4299	no	coding-synonymous	C1orf106	NM_018265.3		3,137,6363	AA,AG,GG		0.0116,3.2229,1.0995		21/664	200860731	143,12863	2203	4300	6503	SO:0001819	synonymous_variant	55765	exon1			GGCTCGGGGGGAG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.63G>A	1.37:g.200860731G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	188	106	0.56383	NM_018265	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37																																																																																				A|0.008;C|0.001;G|0.991	0.008	strong		0.622	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		A	200860731	G	A	200860731	2	1	22	1	0	0	0	0	0	0	0	1	1980	1219	43	2		2	C1orf106	1	200860731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84090	200860731	48389890	920	6028										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200945910	200945910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagctgaggtaccttaacGtagtggtccttggagccagt	12	9	0	1	rs61740477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200945910G>A	ENST00000422435.2	-	32	4753	c.4437C>T	c.(4435-4437)taC>taT	p.Y1479Y	KIF21B_ENST00000332129.2_Silent_p.Y1466Y|KIF21B_ENST00000461742.2_Silent_p.Y1479Y|KIF21B_ENST00000360529.5_Silent_p.Y1466Y	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1479					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTACCTTAACGTAGTGGTCCT	0.577													G|||	390	0.0778754	0.0968	0.0504	5008	,	,		17521	0.1349		0.005	False		,,,				2504	0.0879				p.Y1479Y		Atlas-SNP	.											.	KIF21B	208	.	0			c.C4437T						PASS	.	G		432,3974	209.5+/-230.2	22,388,1793	52	43	46		4398	-2.7	0.8	1	dbSNP_129	46	22,8578	14.6+/-50.1	0,22,4278	no	coding-synonymous	KIF21B	NM_017596.2		22,410,6071	AA,AG,GG		0.2558,9.8048,3.4907		1466/1625	200945910	454,12552	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon32			CTTAACGTAGTGG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4437C>T	1.37:g.200945910G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	44	0.407407	NM_001252102	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			G|0.958;A|0.042	0.042	strong		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200945910	G	A	200945910	2	1	22	1	0	0	0	0	0	0	0	1	8289	1140	40	1		1	KIF21B	1	200945910	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85179	200945910	48304711	921	6029										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200959305	200959305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatggtggcctggcagtcGgtgatgccgtcattgatgta	15	8	1	2	rs2297910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200959305G>A	ENST00000422435.2	-	20	3307	c.2991C>T	c.(2989-2991)acC>acT	p.T997T	KIF21B_ENST00000332129.2_Silent_p.T997T|KIF21B_ENST00000360529.5_Silent_p.T997T|KIF21B_ENST00000461742.2_Silent_p.T997T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	997					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTGGCAGTCGGTGATGCCGT	0.647													G|||	386	0.0770767	0.0953	0.0504	5008	,	,		20650	0.127		0.0119	False		,,,				2504	0.0869				p.T997T		Atlas-SNP	.											.	KIF21B	208	.	0			c.C2991T						PASS	.	G		422,3984	206.8+/-228.3	20,382,1801	87	82	84		2991	-5	1	1	dbSNP_100	84	32,8568	21.0+/-64.5	0,32,4268	no	coding-synonymous	KIF21B	NM_017596.2		20,414,6069	AA,AG,GG		0.3721,9.5778,3.4907		997/1625	200959305	454,12552	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon20			GCAGTCGGTGATG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2991C>T	1.37:g.200959305G>A		Somatic	399	0	0		WXS	Illumina HiSeq	Phase_I	285	147	0.515789	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			G|0.957;A|0.043	0.043	strong		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200959305	G	A	200959305	2	1	22	1	0	0	0	0	0	0	0	1	8289	1103	39	1		1	KIF21B	1	200959305	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13395	200959305	48291316	922	6030										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200967687	200967687	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtcaggtcggccaggtcCgcctggaagttcacctctat	11	13	3	0	rs61740473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200967687C>G	ENST00000422435.2	-	14	2218	c.1902G>C	c.(1900-1902)gcG>gcC	p.A634A	KIF21B_ENST00000332129.2_Silent_p.A634A|KIF21B_ENST00000360529.5_Silent_p.A634A|KIF21B_ENST00000461742.2_Silent_p.A634A	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	634					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGCCAGGTCCGCCTGGAAGT	0.597													C|||	383	0.0764776	0.2791	0.0173	5008	,	,		18558	0.0		0.001	False		,,,				2504	0.001				p.A634A		Atlas-SNP	.											.	KIF21B	208	.	0			c.G1902C						PASS	.	C		1092,3314	393.5+/-328.9	128,836,1239	71	67	68		1902	-10.3	0.8	1	dbSNP_129	68	42,8558	28.5+/-78.6	1,40,4259	no	coding-synonymous	KIF21B	NM_017596.2		129,876,5498	GG,GC,CC		0.4884,24.7844,8.7191		634/1625	200967687	1134,11872	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon14			CAGGTCCGCCTGG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1902G>C	1.37:g.200967687C>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	67	36	0.537313	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			C|0.920;G|0.080	0.080	strong		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		G	200967687	C	G	200967687	2	3	22	1	0	0	0	0	0	0	0	1	8289	639	23	4		4	KIF21B	1	200967687	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8382	200967687	48282934	923	6031										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200971353	200971353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacgcggttgttgatggcAtcgatggcctcctgcatggc	15	10	0	2	rs61740482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200971353A>G	ENST00000422435.2	-	9	1654	c.1338T>C	c.(1336-1338)gaT>gaC	p.D446D	KIF21B_ENST00000332129.2_Silent_p.D446D|KIF21B_ENST00000360529.5_Silent_p.D446D|KIF21B_ENST00000461742.2_Silent_p.D446D	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	446					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)	p.D446D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTTGATGGCATCGATGGCCT	0.612													g|||	384	0.0766773	0.0998	0.0504	5008	,	,		18587	0.125		0.005	False		,,,				2504	0.0879				p.D446D		Atlas-SNP	.											KIF21B,NS,carcinoma,0,1	KIF21B	208	1	1	Substitution - coding silent(1)	stomach(1)	c.T1338C						PASS	.			432,3974	786.5+/-414.8	21,390,1792	157	128	138		1338	-0.3	1	1	dbSNP_129	138	22,8578	818.4+/-406.9	0,22,4278	no	coding-synonymous	KIF21B	NM_017596.2		21,412,6070	GG,GA,AA		0.2558,9.8048,3.4907		446/1625	200971353	454,12552	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon9			GATGGCATCGATG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1338T>C	1.37:g.200971353A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	150	81	0.54	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			A|0.959;G|0.041	0.041	strong		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		G	200971353	A	G	200971353	2	3	22	1	0	0	0	0	0	0	0	1	8289	214	8	2		2	KIF21B	1	200971353	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3666	200971353	48279268	924	6032										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200978412	200978412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgcccataggccagcacCgtggcattatagccctcgaa	9	15	0	0	rs7556510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:200978412C>T	ENST00000422435.2	-	2	562	c.246G>A	c.(244-246)acG>acA	p.T82T	KIF21B_ENST00000332129.2_Silent_p.T82T|KIF21B_ENST00000461742.2_Silent_p.T82T|KIF21B_ENST00000360529.5_Silent_p.T82T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	82	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGGCCAGCACCGTGGCATTAT	0.557													C|||	399	0.0796725	0.2897	0.0202	5008	,	,		21098	0.0		0.001	False		,,,				2504	0.001				p.T82T		Atlas-SNP	.											.	KIF21B	208	.	0			c.G246A						PASS	.	C		1105,3301	396.5+/-330.1	120,865,1218	99	88	92		246	-3.9	1	1	dbSNP_116	92	42,8558	28.5+/-78.6	1,40,4259	no	coding-synonymous	KIF21B	NM_017596.2		121,905,5477	TT,TC,CC		0.4884,25.0794,8.819		82/1625	200978412	1147,11859	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon2			CAGCACCGTGGCA	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.246G>A	1.37:g.200978412C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	142	62	0.43662	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			C|0.922;T|0.078	0.078	strong		0.557	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		T	200978412	C	T	200978412	2	4	22	1	0	0	0	0	0	0	0	1	8289	639	23	1		1	KIF21B	1	200978412	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7059	200978412	48272209	925	6033										
CACNA1S	779	hgsc.bcm.edu	37	chr1	201012484	201012484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcattgttggtattggcaCgagccagggggttggtgcgt	18	6	0	0	rs13374149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201012484C>T	ENST00000362061.3	-	40	5199	c.4973G>A	c.(4972-4974)cGt>cAt	p.R1658H	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1639H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1658			R -> H (in dbSNP:rs13374149).		axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTATTGGCACGAGCCAGGGG	0.547											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	499	0.0996406	0.2867	0.0418	5008	,	,		19713	0.001		0.0577	False		,,,				2504	0.0327				p.R1658H		Atlas-SNP	.											.	CACNA1S	249	.	0			c.G4973A						PASS	.	C	HIS/ARG	1116,3290		137,842,1224	229	185	200		4973	1.6	1	1	dbSNP_121	200	456,8144		13,430,3857	yes	missense	CACNA1S	NM_000069.2	29	150,1272,5081	TT,TC,CC		5.3023,25.3291,12.0867	benign	1658/1874	201012484	1572,11434	2203	4300	6503	SO:0001583	missense	779	exon40			TTGGCACGAGCCA	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4973G>A	1.37:g.201012484C>T	ENSP00000355192:p.Arg1658His	Somatic	186	0	0	2118	WXS	Illumina HiSeq	Phase_I	172	83	0.482558	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	195	0.08928571428571429	135	0.27439024390243905	16	0.04419889502762431	1	0.0017482517482517483	43	0.05672823218997362	.	10.82	1.457511	0.26161	0.253291	0.053023	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96232	-3.95;-3.88	4.63	1.62	0.23740	.	464.918000	0.00166	U	0.000000	T	0.00144	0.0004	L	0.50333	1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50030	-0.8875	9	0.26408	T	0.33	.	6.6767	0.23098	0.3124:0.6007:0.0:0.0869	rs13374149;rs52818718;rs13374149	1658	Q13698	CAC1S_HUMAN	H	1658;1639	ENSP00000355192:R1658H;ENSP00000356307:R1639H	ENSP00000355192:R1658H	R	-	2	0	CACNA1S	199279107	0.019000	0.18553	0.958000	0.39756	0.886000	0.51366	-0.316000	0.08071	0.166000	0.19597	0.544000	0.68410	CGT	C|0.890;T|0.110	0.110	strong		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201012484	C	T	201012484	3	4	22	1	0	0	0	0	1	0	0	0	2547	536	19	1	668	1	CACNA1S	1	201012484	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34072	201012484	48238137	926	6034										
CACNA1S	779	hgsc.bcm.edu	37	chr1	201046164	201046164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaggagggcgaagatgaCgatgaagaggaagagcagca	17	7	0	5	rs114191482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201046164C>T	ENST00000362061.3	-	12	1937	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V571I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	571					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAGATGACGATGAAGAGG	0.557													C|||	8	0.00159744	0.0053	0.0	5008	,	,		23357	0.001		0.0	False		,,,				2504	0.0				p.V571I		Atlas-SNP	.											.	CACNA1S	249	.	0			c.G1711A						PASS	.	C	ILE/VAL	29,4377	37.6+/-69.7	0,29,2174	152	135	141		1711	-2.8	1	1	dbSNP_132	141	0,8600		0,0,4300	yes	missense	CACNA1S	NM_000069.2	29	0,29,6474	TT,TC,CC		0.0,0.6582,0.223	benign	571/1874	201046164	29,12977	2203	4300	6503	SO:0001583	missense	779	exon12			AGATGACGATGAA	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1711G>A	1.37:g.201046164C>T	ENSP00000355192:p.Val571Ile	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	368	187	0.508152	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	4.708	0.131666	0.08981	0.006582	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98381	-4.9;-4.9	4.45	-2.76	0.05896	Ion transport (1);	0.302241	0.36034	N	0.002837	D	0.87888	0.6291	N	0.11201	0.11	0.24428	N	0.994582	B	0.06786	0.001	B	0.08055	0.003	T	0.82733	-0.0311	10	0.02654	T	1	.	8.3162	0.32102	0.1089:0.1105:0.0:0.7805	.	571	Q13698	CAC1S_HUMAN	I	571	ENSP00000355192:V571I;ENSP00000356307:V571I	ENSP00000355192:V571I	V	-	1	0	CACNA1S	199312787	0.896000	0.30565	0.989000	0.46669	0.995000	0.86356	-0.005000	0.12855	-0.570000	0.06022	0.549000	0.68633	GTC	C|0.997;T|0.003	0.003	strong		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201046164	C	T	201046164	3	4	22	1	0	0	0	0	1	0	0	0	2547	536	19	1	4042	1	CACNA1S	1	201046164	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33680	201046164	48204457	927	6035										
CACNA1S	779	hgsc.bcm.edu	37	chr1	201058428	201058428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctccatggtaatgcactgGtacacggtgagcatggagaa	12	10	0	2	rs61734621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201058428G>A	ENST00000362061.3	-	6	1084	c.858C>T	c.(856-858)taC>taT	p.Y286Y	CACNA1S_ENST00000367338.3_Silent_p.Y286Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	286					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAATGCACTGGTACACGGTGA	0.607													G|||	79	0.0157748	0.056	0.0058	5008	,	,		19962	0.0		0.0	False		,,,				2504	0.001				p.Y286Y		Atlas-SNP	.											.	CACNA1S	249	.	0			c.C858T						PASS	.	G		217,4189	134.9+/-171.1	6,205,1992	104	83	90		858	3.9	1	1	dbSNP_129	90	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	CACNA1S	NM_000069.2		6,220,6277	AA,AG,GG		0.1744,4.9251,1.7838		286/1874	201058428	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	779	exon6			GCACTGGTACACG	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.858C>T	1.37:g.201058428G>A		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	261	125	0.478927	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																			G|0.984;A|0.016	0.016	strong		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201058428	G	A	201058428	2	1	22	1	0	0	0	0	0	0	0	1	2547	1256	44	2		2	CACNA1S	1	201058428	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12264	201058428	48192193	928	6036										
PKP1	5317	hgsc.bcm.edu	37	chr1	201282334	201282334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggagcctgacaacaggcGcttcagctcctacagccaga	12	14	1	2	rs34626929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201282334G>A	ENST00000352845.3	+	3	347	c.347G>A	c.(346-348)cGc>cAc	p.R116H	PKP1_ENST00000263946.3_Missense_Mutation_p.R116H|PKP1_ENST00000367324.3_Missense_Mutation_p.R116H			Q13835	PKP1_HUMAN	plakophilin 1	116			R -> H (in dbSNP:rs34626929).		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACAACAGGCGCTTCAGCTCC	0.582													G|||	125	0.0249601	0.093	0.0014	5008	,	,		15377	0.0		0.001	False		,,,				2504	0.0				p.R116H		Atlas-SNP	.											.	PKP1	127	.	0			c.G347A						PASS	.	G	HIS/ARG,HIS/ARG	335,4069		12,311,1879	12	14	13		347,347	4.2	1	1	dbSNP_126	13	5,8591		0,5,4293	yes	missense,missense	PKP1	NM_000299.3,NM_001005337.2	29,29	12,316,6172	AA,AG,GG		0.0582,7.6067,2.6154	probably-damaging,probably-damaging	116/748,116/727	201282334	340,12660	2202	4298	6500	SO:0001583	missense	5317	exon3			ACAGGCGCTTCAG	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.347G>A	1.37:g.201282334G>A	ENSP00000295597:p.Arg116His	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	226	126	0.557522	NM_001005337	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	39	0.017857142857142856	39	0.07926829268292683	0	0.0	0	0.0	0	0.0	G	19.95	3.921490	0.73213	0.076067	5.82E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.77750	-1.12;-1.05;-1.05	4.25	4.25	0.50352	.	0.085098	0.50627	D	0.000107	T	0.22085	0.0532	L	0.29908	0.895	0.50467	D	0.999874	D;D	0.89917	0.999;1.0	P;D	0.68621	0.904;0.959	T	0.62553	-0.6830	10	0.46703	T	0.11	-3.6844	15.3441	0.74320	0.0:0.0:1.0:0.0	rs34626929	116;116	Q13835-2;Q13835	.;PKP1_HUMAN	H	116	ENSP00000356293:R116H;ENSP00000263946:R116H;ENSP00000295597:R116H	ENSP00000263946:R116H	R	+	2	0	PKP1	199548957	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.051000	0.71072	2.373000	0.80994	0.491000	0.48974	CGC	G|0.974;A|0.026	0.026	strong		0.582	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		A	201282334	G	A	201282334	3	1	22	1	0	0	0	0	1	0	0	0	11984	1087	38	1	357	1	PKP1	1	201282334	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	223906	201282334	47968287	929	6037										
PKP1	5317	hgsc.bcm.edu	37	chr1	201286771	201286771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagaacgtccagcaggcCgcggcaggggccctgcgcaa	14	15	0	1	rs1722779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201286771C>T	ENST00000352845.3	+	5	918	c.918C>T	c.(916-918)gcC>gcT	p.A306A	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Silent_p.A306A|PKP1_ENST00000367324.3_Silent_p.A306A			Q13835	PKP1_HUMAN	plakophilin 1	306					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCCAGCAGGCCGCGGCAGGGG	0.647													C|||	844	0.16853	0.1316	0.1945	5008	,	,		17421	0.2302		0.1978	False		,,,				2504	0.1063				p.A306A		Atlas-SNP	.											.	PKP1	127	.	0			c.C918T						PASS	.	C	,	584,3818		41,502,1658	27	29	28		918,918	-11.1	0	1	dbSNP_89	28	1794,6806		192,1410,2698	no	coding-synonymous,coding-synonymous	PKP1	NM_000299.3,NM_001005337.2	,	233,1912,4356	TT,TC,CC		20.8605,13.2667,18.2895	,	306/748,306/727	201286771	2378,10624	2201	4300	6501	SO:0001819	synonymous_variant	5317	exon5			GCAGGCCGCGGCA	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.918C>T	1.37:g.201286771C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	204	104	0.509804	NM_001005337	O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																			T|0.178;C|0.822;A|0.000	0.178	strong		0.647	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		T	201286771	C	T	201286771	2	4	22	1	0	0	0	0	0	0	0	1	11984	639	23	1		1	PKP1	1	201286771	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4437	201286771	47963850	930	6038										
LAD1	3898	hgsc.bcm.edu	37	chr1	201355669	201355669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccggcttagcatctgcagTtgggctcttctctgaggcca	13	12	3	1	rs68021059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:201355669T>C	ENST00000391967.2	-	3	1121	c.820A>G	c.(820-822)Act>Gct	p.T274A	LAD1_ENST00000367313.3_Missense_Mutation_p.T288A|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	274						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCATCTGCAGTTGGGCTCTTC	0.637													T|||	365	0.0728834	0.1377	0.0778	5008	,	,		12772	0.0		0.0885	False		,,,				2504	0.0409				p.T274A		Atlas-SNP	.											.	LAD1	42	.	0			c.A820G						PASS	.	T	ALA/THR	536,3868	219.1+/-236.9	37,462,1703	63	72	69		820	-3.4	0	1	dbSNP_130	69	700,7900	164.6+/-216.9	30,640,3630	yes	missense	LAD1	NM_005558.3	58	67,1102,5333	CC,CT,TT		8.1395,12.1708,9.5048	benign	274/518	201355669	1236,11768	2202	4300	6502	SO:0001583	missense	3898	exon3			CTGCAGTTGGGCT	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.820A>G	1.37:g.201355669T>C	ENSP00000375829:p.Thr274Ala	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	164	0.07509157509157509	65	0.13211382113821138	33	0.09116022099447514	0	0.0	66	0.0870712401055409	T	0.012	-1.653285	0.00779	0.121708	0.081395	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.10288	2.89;2.91	3.16	-3.42	0.04825	.	1.877400	0.02959	N	0.142802	T	0.00039	0.0001	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.32322	-0.9911	9	0.07175	T	0.84	.	3.498	0.07662	0.1833:0.2964:0.0:0.5203	.	288;274	E9PDI4;O00515	.;LAD1_HUMAN	A	274;288	ENSP00000375829:T274A;ENSP00000356282:T288A	ENSP00000356282:T288A	T	-	1	0	LAD1	199622292	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.209000	0.09358	-0.983000	0.03511	-1.248000	0.01517	ACT	T|0.917;C|0.083	0.083	strong		0.637	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		C	201355669	T	C	201355669	3	2	22	1	0	0	0	0	1	0	0	0	8599	1725	60	2	765	2	LAD1	1	201355669	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68898	201355669	47894952	931	6039										
LGR6	59352	hgsc.bcm.edu	37	chr1	202183358	202183358	+	Intron	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggagtgcacggcgcggtGcgcccaggtaggcttggggg					rs74355478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:202183358delG	ENST00000367278.3	+	2	301				LGR6_ENST00000255432.7_Intron|LGR6_ENST00000439764.2_Frame_Shift_Del_p.A26fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACGGCGCGGTGCGCCCAGGTA	0.711													G|G|-|deletion	446	0.0890575	0.1762	0.1455	5008	,	,		10051	0.0397		0.0547	False		,,,				2504	0.0174				p.G25fs		Pindel,Atlas-Indel	.											.	LGR6	102	.	0			c.75delT						PASS	.		,,	600,3594		55,490,1552	9	12	11		,,	-1.9	0	1	dbSNP_131	12	450,7766		25,400,3683	yes	intron,frameshift,intron	LGR6	NM_021636.2,NM_001017404.1,NM_001017403.1	,,	80,890,5235	A1A1,A1R,RR		5.4771,14.3062,8.4609	,,	,,	202183358	1050,11360	2123	4261	6384	SO:0001627	intron_variant	59352	exon1			.	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.213-11193G>-	1.37:g.202183358delG		Somatic	235	.	.		WXS	Illumina HiSeq	Phase_I	270	79	0.293	NM_001017404	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	CCDS30971.1																																																																																			G|0.905;-|0.095	0.095	strong		0.711	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		-	202183358	G	-	202183358	6	5	22	0	1	1	0	1	0	0	0	0	8758	1319	46	0		0	LGR6	1	202183358	Intron	DEL	G	TCGA-G8-6324-01A-11D-2210-10	827689	202183358	47067263	932	6040										
SYT2	127833	hgsc.bcm.edu	37	chr1	202569555	202569555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacagtgagcttcccggcCgtgggcacatagcgcaggga	15	12	0	2	rs907699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:202569555C>T	ENST00000367267.1	-	7	1041	c.849G>A	c.(847-849)acG>acA	p.T283T	SYT2_ENST00000367268.4_Silent_p.T283T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	283	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCTTCCCGGCCGTGGGCACAT	0.607											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	419	0.0836661	0.3011	0.0245	5008	,	,		20029	0.0		0.003	False		,,,				2504	0.001				p.T283T		Atlas-SNP	.											.	SYT2	51	.	0			c.G849A						PASS	.	C	,	1168,3238	411.7+/-335.8	150,868,1185	86	83	84		849,849	-4.4	0.7	1	dbSNP_86	84	45,8555	30.1+/-81.4	0,45,4255	no	coding-synonymous,coding-synonymous	SYT2	NM_001136504.1,NM_177402.4	,	150,913,5440	TT,TC,CC		0.5233,26.5093,9.3265	,	283/420,283/420	202569555	1213,11793	2203	4300	6503	SO:0001819	synonymous_variant	127833	exon7			CCCGGCCGTGGGC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.849G>A	1.37:g.202569555C>T		Somatic	87	0	0	2130	WXS	Illumina HiSeq	Phase_I	106	55	0.518868	NM_177402	Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																			C|0.917;T|0.083	0.083	strong		0.607	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		T	202569555	C	T	202569555	2	4	22	1	0	0	0	0	0	0	0	1	15471	639	23	1		1	SYT2	1	202569555	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	386197	202569555	46681066	933	6041										
CYB5R1	51706	hgsc.bcm.edu	37	chr1	202935911	202935911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtagcaggtacttttcaTtggggtccaggagagtgacc	14	8	1	2	rs2232842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:202935911T>C	ENST00000367249.4	-	2	205	c.131A>G	c.(130-132)aAt>aGt	p.N44S	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	44	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		N -> S (in dbSNP:rs2232842).		sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	GTACTTTTCATTGGGGTCCAG	0.622													T|||	964	0.192492	0.1392	0.2161	5008	,	,		17434	0.4117		0.0278	False		,,,				2504	0.1912				p.N44S		Atlas-SNP	.											.	CYB5R1	25	.	0			c.A131G						PASS	.	T	SER/ASN	648,3758	274.6+/-272.0	49,550,1604	47	48	48		131	3.4	1	1	dbSNP_98	48	237,8363	95.6+/-157.4	3,231,4066	yes	missense	CYB5R1	NM_016243.2	46	52,781,5670	CC,CT,TT		2.7558,14.7072,6.8046	benign	44/306	202935911	885,12121	2203	4300	6503	SO:0001583	missense	51706	exon2			TTTTCATTGGGGT	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.131A>G	1.37:g.202935911T>C	ENSP00000356218:p.Asn44Ser	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	124	55	0.443548	NM_016243	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	399	0.18269230769230768	66	0.13414634146341464	61	0.1685082872928177	251	0.4388111888111888	21	0.027704485488126648	T	11.08	1.533635	0.27387	0.147072	0.027558	ENSG00000159348	ENST00000367249	D	0.84370	-1.84	5.69	3.38	0.38709	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.444378	0.24516	N	0.037841	T	0.00012	0.0000	N	0.25245	0.725	0.30890	P	0.730461	B	0.06786	0.001	B	0.04013	0.001	T	0.30446	-0.9978	9	0.21540	T	0.41	2.4602	8.5924	0.33695	0.0:0.1567:0.0:0.8433	rs2232842;rs57624406;rs2232842	44	Q9UHQ9	NB5R1_HUMAN	S	44	ENSP00000356218:N44S	ENSP00000356218:N44S	N	-	2	0	CYB5R1	201202534	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	1.265000	0.33027	0.440000	0.26502	-0.899000	0.02877	AAT	T|0.886;C|0.114	0.114	strong		0.622	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		C	202935911	T	C	202935911	3	2	22	1	0	0	0	0	1	0	0	0	4126	1493	52	2	818	2	CYB5R1	1	202935911	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	366356	202935911	46314710	934	6042										
ADORA1	134	hgsc.bcm.edu	37	chr1	203098275	203098275	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccctgctggcaattgcTgtggaccgctacctccgggt	13	14	0	0	rs2228079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:203098275T>G	ENST00000367236.4	+	2	1227	c.306T>G	c.(304-306)gcT>gcG	p.A102A	ADORA1_ENST00000309502.3_Silent_p.A102A|ADORA1_ENST00000367235.1_Silent_p.A102A|ADORA1_ENST00000337894.4_Silent_p.A102A|RP11-335O13.7_ENST00000421055.1_RNA	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	102					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGGCAATTGCTGTGGACCGCT	0.597													C|||	1170	0.233626	0.1036	0.2565	5008	,	,		19241	0.1448		0.338	False		,,,				2504	0.3773				p.A102A		Atlas-SNP	.											.	ADORA1	62	.	0			c.T306G						PASS	.	C	,	556,3850		36,484,1683	123	118	120		306,306	-5.3	0.8	1	dbSNP_120	120	2871,5729		487,1897,1916	no	coding-synonymous,coding-synonymous	ADORA1	NM_000674.2,NM_001048230.1	,	523,2381,3599	GG,GT,TT		33.3837,12.6192,26.3494	,	102/327,102/327	203098275	3427,9579	2203	4300	6503	SO:0001819	synonymous_variant	134	exon2			AATTGCTGTGGAC	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.306T>G	1.37:g.203098275T>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	104	38	0.365385	NM_001048230	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	37	CCDS1434.1																																																																																			T|0.745;G|0.255	0.255	strong		0.597	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		G	203098275	T	G	203098275	2	3	22	1	0	0	0	0	0	0	0	1	326	1567	55	5		5	ADORA1	1	203098275	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	162364	203098275	46152346	935	6043										
MYBPH	4608	hgsc.bcm.edu	37	chr1	203143725	203143725	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacaggcacccactccgagGctgaggggatggagagagtg	16	10	1	2	rs2642531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:203143725G>C	ENST00000255416.4	-	3	398	c.341C>G	c.(340-342)gCc>gGc	p.A114G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	114	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> G (in dbSNP:rs2642531).		cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CCACTCCGAGGCTGAGGGGAT	0.612													g|||	1271	0.253794	0.528	0.2522	5008	,	,		17735	0.1468		0.1352	False		,,,				2504	0.1166				p.A114G	NSCLC(32;174 1025 14462 23899 42933)	Atlas-SNP	.											.	MYBPH	41	.	0			c.C341G						PASS	.	C	GLY/ALA	2143,2263		534,1075,594	28	23	25		341	4.6	1	1	dbSNP_100	25	1124,7476		86,952,3262	yes	missense-near-splice	MYBPH	NM_004997.2	60	620,2027,3856	CC,CG,GG		13.0698,48.6382,25.1192	benign	114/478	203143725	3267,9739	2203	4300	6503	SO:0001630	splice_region_variant	4608	exon3			TCCGAGGCTGAGG	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.341-1C>G	1.37:g.203143725G>C		Somatic	416	0	0		WXS	Illumina HiSeq	Phase_I	487	243	0.498973	NM_004997	Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	CCDS30975.1	536	0.2454212454212454	263	0.5345528455284553	85	0.23480662983425415	91	0.1590909090909091	97	0.1279683377308707	g	10.09	1.255596	0.22965	0.486382	0.130698	ENSG00000133055	ENST00000255416	T	0.54866	0.55	5.53	4.62	0.57501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.133482	0.34245	N	0.004140	T	0.00012	0.0000	N	0.17872	0.535	0.30470	P	0.773413	B	0.20780	0.048	B	0.25614	0.062	T	0.45600	-0.9250	9	0.45353	T	0.12	.	12.5921	0.56449	0.0:0.1669:0.8331:0.0	rs2642531;rs3820146;rs59912116;rs2642531	114	Q13203	MYBPH_HUMAN	G	114	ENSP00000255416:A114G	ENSP00000255416:A114G	A	-	2	0	MYBPH	201410348	0.997000	0.39634	1.000000	0.80357	0.037000	0.13140	1.982000	0.40638	1.346000	0.45694	-0.121000	0.15023	GCC	G|0.736;C|0.264	0.264	strong		0.612	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	Missense_Mutation	C	203143725	G	C	203143725	5	2	22	1	0	0	0	0	0	0	1	0	10014	1217	42	4	1124	4	MYBPH	1	203143725	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45450	203143725	46106896	936	6044										
CHI3L1	1116	hgsc.bcm.edu	37	chr1	203152851	203152851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccatcaaagccatgggtgCgcagaaatggcggtactgac	13	11	1	2	rs147131854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:203152851C>T	ENST00000255409.3	-	5	508	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	128					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.R128H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GCCATGGGTGCGCAGAAATGG	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		22573	0.0		0.0	False		,,,				2504	0.002				p.R128H		Atlas-SNP	.											CHI3L1,colon,carcinoma,0,1	CHI3L1	51	1	1	Substitution - Missense(1)	large_intestine(1)	c.G383A						PASS	.	C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	136	109	118		383	5.7	0.9	1	dbSNP_134	118	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CHI3L1	NM_001276.2	29	0,10,6493	TT,TC,CC		0.0581,0.1135,0.0769	probably-damaging	128/384	203152851	10,12996	2203	4300	6503	SO:0001583	missense	1116	exon5			TGGGTGCGCAGAA	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.383G>A	1.37:g.203152851C>T	ENSP00000255409:p.Arg128His	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_001276	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787628	0.70337	0.001135	5.81E-4	ENSG00000133048	ENST00000255409	T	0.07114	3.22	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000104	T	0.35799	0.0944	M	0.87456	2.885	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.15407	-1.0438	10	0.62326	D	0.03	-35.3845	17.3057	0.87194	0.0:1.0:0.0:0.0	.	128	P36222	CH3L1_HUMAN	H	128	ENSP00000255409:R128H	ENSP00000255409:R128H	R	-	2	0	CHI3L1	201419474	1.000000	0.71417	0.910000	0.35882	0.095000	0.18619	7.061000	0.76699	2.664000	0.90586	0.655000	0.94253	CGC	C|0.999;T|0.001	0.001	strong		0.532	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		T	203152851	C	T	203152851	3	4	22	1	0	0	0	0	1	0	0	0	3340	768	27	1	792	1	CHI3L1	1	203152851	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9126	203152851	46097770	937	6045										
ETNK2	55224	hgsc.bcm.edu	37	chr1	204109238	204109238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atattcatagtcaatgaaccGcacgtgacctatgaagtaga	8	8	2	4	rs565275436		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204109238G>A	ENST00000367202.4	-	5	943	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367199.2_Missense_Mutation_p.R196W|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.R265W|ETNK2_ENST00000367198.2_Missense_Mutation_p.R87W	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	265					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAATGAACCGCACGTGACCT	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22874	0.0		0.0	False		,,,				2504	0.0				p.R265W		Atlas-SNP	.											ETNK2_ENST00000367202,NS,carcinoma,0,2	ETNK2	48	2	0			c.C793T						PASS	.						152	134	140					1																	204109238		2203	4300	6503	SO:0001583	missense	55224	exon5			TGAACCGCACGTG	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.793C>T	1.37:g.204109238G>A	ENSP00000356170:p.Arg265Trp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	111	53	0.477477	NM_018208	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910054	0.52439	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.4	1.99	0.26369	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.207171	0.44097	D	0.000494	T	0.71281	0.3321	M	0.82323	2.585	0.40505	D	0.98068	D;D;D	0.89917	0.995;0.996;1.0	P;P;P	0.62014	0.663;0.773;0.897	T	0.73398	-0.3995	10	0.62326	D	0.03	-8.4891	9.3644	0.38215	0.0756:0.0:0.6588:0.2656	.	224;265;265	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	W	265;265;196;131;87;131;122;111	ENSP00000356169:R265W;ENSP00000356170:R265W;ENSP00000356167:R196W;ENSP00000356166:R87W;ENSP00000405497:R131W;ENSP00000398091:R122W;ENSP00000406241:R111W	ENSP00000356166:R87W	R	-	1	2	ETNK2	202375861	0.148000	0.22702	0.308000	0.25141	0.327000	0.28475	2.116000	0.41930	0.590000	0.29694	0.650000	0.86243	CGG	.	.	none		0.488	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		A	204109238	G	A	204109238	3	1	22	1	0	0	0	0	1	0	0	0	5274	1086	38	1	383	1	ETNK2	1	204109238	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	956387	204109238	45141383	938	6046										
GOLT1A	127845	hgsc.bcm.edu	37	chr1	204172060	204172060	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacggaatcaaagtacagGagtgttccaaagaggatgaa	12	6	1	2	rs6689599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204172060G>C	ENST00000308302.3	-	2	266	c.81C>G	c.(79-81)ctC>ctG	p.L27L	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAAAGTACAGGAGTGTTCCAA	0.552													G|||	464	0.0926518	0.2413	0.0836	5008	,	,		19032	0.006		0.0517	False		,,,				2504	0.0297				p.L27L		Atlas-SNP	.											.	GOLT1A	15	.	0			c.C81G						PASS	.	G		985,3421	369.1+/-318.9	126,733,1344	122	108	113		81	2.8	1	1	dbSNP_116	113	473,8127	140.0+/-196.6	8,457,3835	no	coding-synonymous	GOLT1A	NM_198447.1		134,1190,5179	CC,CG,GG		5.5,22.3559,11.2102		27/133	204172060	1458,11548	2203	4300	6503	SO:0001819	synonymous_variant	127845	exon2			GTACAGGAGTGTT	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.81C>G	1.37:g.204172060G>C		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	208	98	0.471154	NM_198447		Silent	SNP	ENST00000308302.3	37	CCDS1443.1																																																																																			G|0.897;C|0.103	0.103	strong		0.552	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		C	204172060	G	C	204172060	2	2	22	1	0	0	0	0	0	0	0	1	6570	1161	41	4		4	GOLT1A	1	204172060	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62822	204172060	45078561	939	6047										
GOLT1A	127845	hgsc.bcm.edu	37	chr1	204172096	204172096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagaagatgccgaaaccGgtgatccccacaccaatctc	8	13	1	4	rs6689607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204172096G>A	ENST00000308302.3	-	2	230	c.45C>T	c.(43-45)acC>acT	p.T15T	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGCCGAAACCGGTGATCCCCA	0.562													G|||	456	0.0910543	0.2352	0.0836	5008	,	,		18927	0.006		0.0517	False		,,,				2504	0.0297				p.T15T		Atlas-SNP	.											GOLT1A,caecum,carcinoma,0,1	GOLT1A	15	1	0			c.C45T						PASS	.	G		972,3434	365.1+/-317.3	122,728,1353	103	90	94		45	-11.3	0.2	1	dbSNP_116	94	470,8130	139.8+/-196.4	8,454,3838	no	coding-synonymous	GOLT1A	NM_198447.1		130,1182,5191	AA,AG,GG		5.4651,22.0608,11.0872		15/133	204172096	1442,11564	2203	4300	6503	SO:0001819	synonymous_variant	127845	exon2			GAAACCGGTGATC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.45C>T	1.37:g.204172096G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	194	99	0.510309	NM_198447		Silent	SNP	ENST00000308302.3	37	CCDS1443.1																																																																																			G|0.898;A|0.102	0.102	strong		0.562	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		A	204172096	G	A	204172096	2	1	22	1	0	0	0	0	0	0	0	1	6570	1103	39	1		1	GOLT1A	1	204172096	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36	204172096	45078525	940	6048										
PLEKHA6	22874	hgsc.bcm.edu	37	chr1	204198209	204198209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttggagatgtctacctcAtggatgctgcggtggcggcg	17	8	2	1	rs3795571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204198209A>G	ENST00000272203.3	-	19	2923	c.2607T>C	c.(2605-2607)caT>caC	p.H869H	PLEKHA6_ENST00000414478.1_Silent_p.H889H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	869										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGTCTACCTCATGGATGCTGC	0.632													G|||	2566	0.51238	0.6967	0.5389	5008	,	,		19143	0.4802		0.4344	False		,,,				2504	0.3579				p.H869H		Atlas-SNP	.											.	PLEKHA6	115	.	0			c.T2607C						PASS	.	G		2912,1494	475.3+/-357.3	971,970,262	41	43	42		2607	-2.6	1	1	dbSNP_107	42	3938,4662	598.8+/-394.0	891,2156,1253	no	coding-synonymous	PLEKHA6	NM_014935.2		1862,3126,1515	GG,GA,AA		45.7907,33.9083,47.332		869/1049	204198209	6850,6156	2203	4300	6503	SO:0001819	synonymous_variant	22874	exon19			TACCTCATGGATG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2607T>C	1.37:g.204198209A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_014935	A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																			A|0.469;G|0.531	0.531	strong		0.632	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		G	204198209	A	G	204198209	2	3	22	1	0	0	0	0	0	0	0	1	12060	214	8	2		2	PLEKHA6	1	204198209	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26113	204198209	45052412	941	6049										
PLEKHA6	22874	hgsc.bcm.edu	37	chr1	204199614	204199614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggctcctccgcttctccCtcatggagccactctggtgc	10	17	3	0	rs10900562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204199614C>T	ENST00000272203.3	-	18	2826	c.2510G>A	c.(2509-2511)aGg>aAg	p.R837K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R857K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	837			R -> K (in dbSNP:rs10900562). {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:15489334}.							breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCGCTTCTCCCTCATGGAGCC	0.652													T|||	2557	0.510583	0.6914	0.5375	5008	,	,		13874	0.4802		0.4334	False		,,,				2504	0.3579				p.R837K		Atlas-SNP	.											PLEKHA6,colon,carcinoma,0,1	PLEKHA6	115	1	0			c.G2510A						PASS	.	T	LYS/ARG	2895,1507		980,935,286	22	21	22		2510	2.9	1	1	dbSNP_120	22	3909,4671		909,2091,1290	yes	missense	PLEKHA6	NM_014935.2	26	1889,3026,1576	TT,TC,CC		45.5594,34.2344,47.589	benign	837/1049	204199614	6804,6178	2201	4290	6491	SO:0001583	missense	22874	exon18			TTCTCCCTCATGG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2510G>A	1.37:g.204199614C>T	ENSP00000272203:p.Arg837Lys	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	165	161	0.975758	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	1131	0.5178571428571429	332	0.6747967479674797	193	0.5331491712707183	277	0.48426573426573427	329	0.4340369393139842	T	9.062	0.994763	0.19043	0.657656	0.455594	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.22743	1.94;2.4	5.24	2.91	0.33838	.	0.157126	0.56097	N	0.000034	T	0.00012	0.0000	N	0.10972	0.075	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.15499	T	0.54	-21.9669	9.0092	0.36131	0.0:0.216:0.0:0.7839	rs10900562;rs58953574;rs10900562	837	Q9Y2H5	PKHA6_HUMAN	K	837;857	ENSP00000272203:R837K;ENSP00000402046:R857K	ENSP00000272203:R837K	R	-	2	0	PLEKHA6	202466237	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	3.200000	0.51051	0.026000	0.15269	-1.390000	0.01156	AGG	C|0.466;T|0.534	0.534	strong		0.652	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204199614	C	T	204199614	3	4	22	1	0	0	0	0	1	0	0	0	12060	681	24	2	656	2	PLEKHA6	1	204199614	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1405	204199614	45051007	942	6050										
NFASC	23114	hgsc.bcm.edu	37	chr1	204939763	204939763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctccctactggctggaCgaacccaagaaccttattct	8	14	1	1	rs6690894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204939763C>T	ENST00000401399.1	+	10	1222	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	NFASC_ENST00000339876.6_Silent_p.D341D|NFASC_ENST00000367172.4_Silent_p.D341D|NFASC_ENST00000367169.4_Silent_p.D341D|NFASC_ENST00000360049.4_Silent_p.D352D|NFASC_ENST00000338515.6_Silent_p.D341D|NFASC_ENST00000338586.6_Silent_p.D341D|NFASC_ENST00000404076.1_Silent_p.D335D|NFASC_ENST00000404907.1_Silent_p.D352D|NFASC_ENST00000539706.1_Silent_p.D352D|NFASC_ENST00000367171.4_Silent_p.D341D|NFASC_ENST00000513543.1_Silent_p.D352D|NFASC_ENST00000403080.1_Silent_p.D341D|NFASC_ENST00000367170.4_Silent_p.D341D			O94856	NFASC_HUMAN	neurofascin	341	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGCTGGACGAACCCAAGA	0.552													C|||	104	0.0207668	0.0764	0.0029	5008	,	,		18345	0.0		0.0	False		,,,				2504	0.001				p.D352D		Atlas-SNP	.											.	NFASC	396	.	0			c.C1056T						PASS	.	C	,,,,,	288,4118	158.9+/-191.5	13,262,1928	87	76	80		1023,1023,1056,1056,1005,1056	-8.8	0.4	1	dbSNP_116	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	13,263,6227	TT,TC,CC		0.0116,6.5365,2.2221	,,,,,	341/1241,341/620,352/1190,352/1175,335/614,352/1170	204939763	289,12717	2203	4300	6503	SO:0001819	synonymous_variant	23114	exon11			GCTGGACGAACCC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1023C>T	1.37:g.204939763C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	131	60	0.458015	NM_015090	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	30	0.013736263736263736	29	0.05894308943089431	1	0.0027624309392265192	0	0.0	0	0.0	C	8.636	0.894786	0.17613	0.065365	1.16E-4	ENSG00000163531	ENST00000367173	.	.	.	5.64	-8.77	0.00827	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68655	-0.5351	4	.	.	.	.	17.7033	0.88301	0.0:0.1936:0.0:0.8064	rs6690894;rs6690894	.	.	.	M	311	.	.	T	+	2	0	NFASC	203206386	0.189000	0.23263	0.369000	0.25952	0.985000	0.73830	-0.441000	0.06879	-2.495000	0.00514	-0.797000	0.03246	ACG	C|0.974;T|0.026	0.026	strong		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204939763	C	T	204939763	2	4	22	1	0	0	0	0	0	0	0	1	10359	535	19	1		1	NFASC	1	204939763	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	740149	204939763	44310858	943	6051										
NFASC	23114	hgsc.bcm.edu	37	chr1	204966428	204966428	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgtcgcacctaccaccatCgccaccaccaccaccgtcgc	5	22	0	0	rs2802808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:204966428C>G	ENST00000401399.1	+	24	3112	c.2913C>G	c.(2911-2913)atC>atG	p.I971M	NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.I1078M|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.I1078M|NFASC_ENST00000339876.6_Missense_Mutation_p.I971M|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.I1063M|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000513543.1_Intron			O94856	NFASC_HUMAN	neurofascin	1078	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTaccaccatcgccaccacca	0.617													C|||	1555	0.310503	0.208	0.2867	5008	,	,		17209	0.4345		0.2545	False		,,,				2504	0.3957				p.I971M		Atlas-SNP	.											NFASC_ENST00000339876,caecum,carcinoma,0,2	NFASC	396	2	0			c.C2913G						PASS	.	C	,,,MET/ILE	676,2456		87,502,977	242	289	275		,,,2913	0.4	0.9	1	dbSNP_100	275	2031,5129		293,1445,1842	yes	intron,intron,intron,missense	NFASC	NM_001160331.1,NM_001160332.1,NM_015090.3,NM_001005388.2	,,,10	380,1947,2819	GG,GC,CC		28.3659,21.5837,26.302	,,,benign	,,,971/1241	204966428	2707,7585	1566	3580	5146	SO:0001583	missense	23114	exon25			CACCATCGCCACC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2913C>G	1.37:g.204966428C>G	ENSP00000385637:p.Ile971Met	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	256	123	0.480469	NM_001005388	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	677	0.309981684981685	103	0.20934959349593496	104	0.287292817679558	266	0.46503496503496505	204	0.2691292875989446	C	11.69	1.712468	0.30322	0.215837	0.283659	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000338515;ENST00000339876;ENST00000401399;ENST00000447819	T;T;T;T;T;T	0.78481	-0.14;0.99;-0.12;-0.09;-0.09;-1.18	4.59	0.388	0.16264	.	1.599380	0.03805	N	0.265054	T	0.00012	0.0000	.	.	.	0.30560	P	0.764566	B;B	0.28801	0.223;0.002	B;B	0.19946	0.027;0.004	T	0.23797	-1.0178	8	0.52906	T	0.07	.	5.0857	0.14680	0.0:0.4819:0.3275:0.1906	rs2802808;rs52830695;rs2802808	1078;971	O94856-7;O94856-9	.;.	M	1078;1063;1078;971;971;39	ENSP00000356140:I1078M;ENSP00000356139:I1063M;ENSP00000342128:I1078M;ENSP00000344786:I971M;ENSP00000385637:I971M;ENSP00000416891:I39M	ENSP00000342128:I1078M	I	+	3	3	NFASC	203233051	0.001000	0.12720	0.922000	0.36590	0.994000	0.84299	-0.198000	0.09505	0.162000	0.19483	0.655000	0.94253	ATC	C|0.678;G|0.322	0.322	strong		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		G	204966428	C	G	204966428	3	3	22	1	0	0	0	0	1	0	0	0	10359	874	31	4	3416	4	NFASC	1	204966428	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26665	204966428	44284193	944	6052										
CNTN2	6900	hgsc.bcm.edu	37	chr1	205033518	205033518	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcccgcgggggagagatcCttatcccctgccagccccgg	14	17	0	1	rs79431021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205033518C>G	ENST00000331830.4	+	11	1593	c.1309C>G	c.(1309-1311)Ctt>Gtt	p.L437V	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	437	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGAGAGATCCTTATCCCCTG	0.627													G|||	176	0.0351438	0.1112	0.0202	5008	,	,		13924	0.0		0.0129	False		,,,				2504	0.002				p.L437V	Melanoma(183;2548 2817 37099 41192)	Atlas-SNP	.											.	CNTN2	116	.	0			c.C1309G						PASS	.	G	VAL/LEU	380,4026	787.3+/-414.9	19,342,1842	91	107	101		1309	-7	0	1	dbSNP_132	101	148,8452	809.3+/-407.2	1,146,4153	yes	missense	CNTN2	NM_005076.3	32	20,488,5995	GG,GC,CC		1.7209,8.6246,4.0597	benign	437/1041	205033518	528,12478	2203	4300	6503	SO:0001583	missense	6900	exon11			GAGATCCTTATCC	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1309C>G	1.37:g.205033518C>G	ENSP00000330633:p.Leu437Val	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	161	82	0.509317	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	76	0.0347985347985348	59	0.11991869918699187	7	0.019337016574585635	0	0.0	10	0.013192612137203167	G	0.460	-0.889703	0.02511	0.086246	0.017209	ENSG00000184144	ENST00000331830	T	0.66460	-0.21	5.33	-6.97	0.01616	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.302220	0.05908	N	0.631129	T	0.00496	0.0016	N	0.02985	-0.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05241	-1.0897	10	0.15952	T	0.53	.	8.1491	0.31130	0.7102:0.0949:0.1004:0.0945	.	437;328	Q02246;Q68DA2	CNTN2_HUMAN;.	V	437	ENSP00000330633:L437V	ENSP00000330633:L437V	L	+	1	0	CNTN2	203300141	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	0.009000	0.13219	-1.704000	0.01407	-0.978000	0.02582	CTT	C|0.962;G|0.038	0.038	strong		0.627	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		G	205033518	C	G	205033518	3	3	22	1	0	0	0	0	1	0	0	0	3641	681	24	4	1347	4	CNTN2	1	205033518	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67090	205033518	44217103	945	6053										
NUAK2	81788	hgsc.bcm.edu	37	chr1	205273142	205273142	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcccttcttggggagcagGggggcagcctgccctgggct	17	12	1	0	rs41264881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205273142G>C	ENST00000367157.3	-	7	1449	c.1323C>G	c.(1321-1323)ccC>ccG	p.P441P		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGGGAGCAGGGGGGCAGCCT	0.627													G|||	382	0.076278	0.0461	0.1571	5008	,	,		16405	0.001		0.1501	False		,,,				2504	0.0613				p.P441P		Atlas-SNP	.											NUAK2_ENST00000367157,NS,carcinoma,0,2	NUAK2	107	2	0			c.C1323G						PASS	.	G		321,4085	160.3+/-192.7	10,301,1892	39	39	39		1323	3.1	0.5	1	dbSNP_127	39	1318,7282	246.1+/-274.7	97,1124,3079	no	coding-synonymous	NUAK2	NM_030952.1		107,1425,4971	CC,CG,GG		15.3256,7.2855,12.6019		441/629	205273142	1639,11367	2203	4300	6503	SO:0001819	synonymous_variant	81788	exon7			GAGCAGGGGGGCA	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1323C>G	1.37:g.205273142G>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	126	73	0.579365	NM_030952		Silent	SNP	ENST00000367157.3	37	CCDS1453.1																																																																																			G|0.874;C|0.126	0.126	strong		0.627	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		C	205273142	G	C	205273142	2	2	22	1	0	0	0	0	0	0	0	1	10713	1219	43	4		4	NUAK2	1	205273142	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	239624	205273142	43977479	946	6054										
MFSD4	148808	hgsc.bcm.edu	37	chr1	205561372	205561372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtttctcagcagcaccttCcccagcatgctggcctacac	7	17	1	0	rs7529077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205561372C>T	ENST00000367147.4	+	7	1347	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	MFSD4_ENST00000536357.1_Silent_p.F331F|RNU6-418P_ENST00000384035.1_RNA|MFSD4_ENST00000539267.1_Silent_p.F418F	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	418					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCAGCACCTTCCCCAGCATGC	0.637											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	671	0.133986	0.2171	0.1311	5008	,	,		12809	0.0149		0.2187	False		,,,				2504	0.0593				p.F418F		Atlas-SNP	.											.	MFSD4	46	.	0			c.C1254T						PASS	.	C		958,3448	352.8+/-311.9	105,748,1350	89	67	75		1254	2.7	1	1	dbSNP_116	75	1940,6660	333.2+/-320.4	218,1504,2578	no	coding-synonymous	MFSD4	NM_181644.4		323,2252,3928	TT,TC,CC		22.5581,21.7431,22.282		418/515	205561372	2898,10108	2203	4300	6503	SO:0001819	synonymous_variant	148808	exon7			CACCTTCCCCAGC	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1254C>T	1.37:g.205561372C>T		Somatic	166	1	0.0060241	2153	WXS	Illumina HiSeq	Phase_I	176	176	1	NM_181644	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	CCDS1455.1																																																																																			C|0.812;T|0.188	0.188	strong		0.637	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		T	205561372	C	T	205561372	2	4	22	1	0	0	0	0	0	0	0	1	9533	854	30	2		2	MFSD4	1	205561372	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288230	205561372	43689249	947	6055										
SLC41A1	254428	hgsc.bcm.edu	37	chr1	205767885	205767885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcaatgggtgtggccacGttgtctgggttgatcccaat	14	9	1	1	rs708727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205767885G>A	ENST00000367137.3	-	6	1770	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	252					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTGTGGCCACGTTGTCTGGGT	0.577													G|||	708	0.141374	0.0227	0.2291	5008	,	,		18060	0.003		0.3966	False		,,,				2504	0.1196				p.N252N		Atlas-SNP	.											SLC41A1,colon,carcinoma,0,1	SLC41A1	46	1	0			c.C756T						PASS	.	G		368,4038	187.4+/-214.1	24,320,1859	103	96	99		756	-2.1	1	1	dbSNP_86	99	3492,5108	511.3+/-377.7	710,2072,1518	no	coding-synonymous	SLC41A1	NM_173854.4		734,2392,3377	AA,AG,GG		40.6047,8.3522,29.6786		252/514	205767885	3860,9146	2203	4300	6503	SO:0001819	synonymous_variant	254428	exon6			GGCCACGTTGTCT	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.756C>T	1.37:g.205767885G>A		Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	318	158	0.496855	NM_173854	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	CCDS30988.1																																																																																			G|0.751;A|0.249	0.249	strong		0.577	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			A	205767885	G	A	205767885	2	1	22	1	0	0	0	0	0	0	0	1	14629	1136	40	1		1	SLC41A1	1	205767885	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	206513	205767885	43482736	948	6056										
PM20D1	148811	hgsc.bcm.edu	37	chr1	205811828	205811828	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgccagttgctgcaatacAgtcaccactgtcccgcttcc	7	15	1	0	rs4951025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205811828A>T	ENST00000367136.4	-	7	923	c.879T>A	c.(877-879)acT>acA	p.T293T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	293					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.T293T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCTGCAATACAGTCACCACTG	0.443													C|||	1425	0.284545	0.4183	0.2421	5008	,	,		22567	0.2917		0.1352	False		,,,				2504	0.2802				p.T293T		Atlas-SNP	.											PM20D1,NS,carcinoma,0,1	PM20D1	56	1	1	Substitution - coding silent(1)	stomach(1)	c.T879A						PASS	.	C		1618,2788		313,992,898	129	118	122		879	-2	0	1	dbSNP_111	122	1150,7450		76,998,3226	no	coding-synonymous	PM20D1	NM_152491.4		389,1990,4124	TT,TA,AA		13.3721,36.7227,21.2825		293/503	205811828	2768,10238	2203	4300	6503	SO:0001819	synonymous_variant	148811	exon7			CAATACAGTCACC		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.879T>A	1.37:g.205811828A>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	88	36	0.409091	NM_152491	Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	CCDS1460.1																																																																																			A|0.756;T|0.244	0.244	strong		0.443	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		T	205811828	A	T	205811828	2	4	22	1	0	0	0	0	0	0	0	1	12128	175	7	5		5	PM20D1	1	205811828	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43943	205811828	43438793	949	6057										
PM20D1	148811	hgsc.bcm.edu	37	chr1	205814485	205814485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtcgtccagtgtgccccGaccatagatgatgccatcac	9	14	1	2	rs1104899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205814485G>A	ENST00000367136.4	-	3	501	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	153			R -> W (in dbSNP:rs1104899). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTGTGCCCCGACCATAGATG	0.562													G|||	1251	0.2498	0.1868	0.2536	5008	,	,		19480	0.255		0.2515	False		,,,				2504	0.3252				p.R153W		Atlas-SNP	.											.	PM20D1	56	.	0			c.C457T						PASS	.	G	TRP/ARG	895,3511	346.2+/-308.9	80,735,1388	103	98	100		457	4	0.9	1	dbSNP_86	100	2145,6455	368.8+/-335.2	247,1651,2402	yes	missense	PM20D1	NM_152491.4	101	327,2386,3790	AA,AG,GG		24.9419,20.3132,23.3738	probably-damaging	153/503	205814485	3040,9966	2203	4300	6503	SO:0001583	missense	148811	exon3			TGCCCCGACCATA		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.457C>T	1.37:g.205814485G>A	ENSP00000356104:p.Arg153Trp	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	119	60	0.504202	NM_152491	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	CCDS1460.1	505	0.23122710622710624	104	0.21138211382113822	77	0.212707182320442	134	0.23426573426573427	190	0.25065963060686014	G	12.74	2.027395	0.35797	0.203132	0.249419	ENSG00000162877	ENST00000367136	T	0.61980	0.06	5.85	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.93106	3.38	0.19300	P	0.9999726049	D	0.67145	0.996	D	0.69142	0.962	T	0.22382	-1.0218	9	0.72032	D	0.01	.	5.2168	0.15346	0.07:0.1252:0.5523:0.2525	rs1104899;rs4451603;rs17855849;rs52830326;rs60653286;rs1104899	153	Q6GTS8	P20D1_HUMAN	W	153	ENSP00000356104:R153W	ENSP00000356104:R153W	R	-	1	2	PM20D1	204081108	0.998000	0.40836	0.946000	0.38457	0.005000	0.04900	2.648000	0.46647	0.793000	0.33875	-0.254000	0.11334	CGG	G|0.759;A|0.241	0.241	strong		0.562	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		A	205814485	G	A	205814485	3	1	22	1	0	0	0	0	1	0	0	0	12128	1057	37	1	1095	1	PM20D1	1	205814485	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2657	205814485	43436136	950	6058										
SLC26A9	115019	hgsc.bcm.edu	37	chr1	205884274	205884274	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcaccagactctcactccTgtaagggtagcacccccctg	8	17	2	1	rs6669481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205884274T>C	ENST00000367135.3	-	0	2700				SLC26A9_ENST00000340781.4_Missense_Mutation_p.R804G|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R804G	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTCTCACTCCTGTAAGGGTAG	0.632													T|||	772	0.154153	0.4523	0.0879	5008	,	,		18467	0.0		0.1004	False		,,,				2504	0.0123				p.R804G		Atlas-SNP	.											.	SLC26A9	176	.	0			c.A2410G						PASS	.	T	,GLY/ARG	1764,2642	521.9+/-370.6	366,1032,805	53	56	55		,2410	0.7	0	1	dbSNP_116	55	829,7771	191.4+/-237.6	34,761,3505	yes	utr-3,missense	SLC26A9	NM_052934.3,NM_134325.2	,125	400,1793,4310	CC,CT,TT		9.6395,40.0363,19.937	,benign	,804/888	205884274	2593,10413	2203	4300	6503	SO:0001624	3_prime_UTR_variant	115019	exon22			CACTCCTGTAAGG	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.*211A>G	1.37:g.205884274T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	146	81	0.554795	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	326	0.14926739926739926	214	0.4349593495934959	39	0.10773480662983426	0	0.0	73	0.09630606860158311	T	9.562	1.118803	0.20877	0.400363	0.096395	ENSG00000174502	ENST00000340781;ENST00000367134	D;D	0.93712	-3.27;-3.27	3.33	0.714	0.18180	.	3.958980	0.00589	N	0.000351	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.34428	-0.9829	9	0.44086	T	0.13	.	3.4704	0.07565	0.0:0.1357:0.2316:0.6328	rs6669481;rs52795600;rs59281091;rs6669481	804;51	B1AVM8;Q8NAY2	.;.	G	804	ENSP00000341682:R804G;ENSP00000356102:R804G	ENSP00000341682:R804G	R	-	1	2	SLC26A9	204150897	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.462000	0.21956	-0.210000	0.10140	0.379000	0.24179	AGG	T|0.807;C|0.193	0.193	strong		0.632	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		C	205884274	T	C	205884274	1	2	22	0	1	0	0	0	0	0	0	0	14524	1579	55	3		3	SLC26A9	1	205884274	3'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	69789	205884274	43366347	951	6059										
SLC26A9	115019	hgsc.bcm.edu	37	chr1	205901000	205901000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcacctggatgatggcGgtgaggcaggctagcgtagc	15	12	1	2	rs33943971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:205901000G>A	ENST00000367135.3	-	5	653	c.540C>T	c.(538-540)acC>acT	p.T180T	SLC26A9_ENST00000340781.4_Silent_p.T180T|SLC26A9_ENST00000367134.2_Silent_p.T180T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	180					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGATGATGGCGGTGAGGCAGG	0.562													G|||	370	0.0738818	0.1664	0.0677	5008	,	,		18568	0.0		0.0805	False		,,,				2504	0.0225				p.T180T		Atlas-SNP	.											.	SLC26A9	176	.	0			c.C540T						PASS	.	G	,	708,3698	293.8+/-282.8	51,606,1546	57	56	56		540,540	-9.1	0.9	1	dbSNP_126	56	673,7927	169.1+/-220.5	31,611,3658	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	82,1217,5204	AA,AG,GG		7.8256,16.069,10.6182	,	180/792,180/888	205901000	1381,11625	2203	4300	6503	SO:0001819	synonymous_variant	115019	exon5			GATGGCGGTGAGG	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.540C>T	1.37:g.205901000G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	167	72	0.431138	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	CCDS30990.1																																																																																			G|0.899;A|0.101	0.101	strong		0.562	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		A	205901000	G	A	205901000	2	1	22	1	0	0	0	0	0	0	0	1	14524	1103	39	1		1	SLC26A9	1	205901000	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16726	205901000	43349621	952	6060										
SRGAP2	23380	hgsc.bcm.edu	37	chr1	206566947	206566947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgaaggccatcaaagccCggaatgagtacttgctggct	12	10	1	2	rs375845037		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:206566947C>T	ENST00000414007.1	+	3	328	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	250	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CATCAAAGCCCGGAATGAGTA	0.428																																					p.Q97X		Atlas-SNP	.											.	.	.	.	0			c.C289T						PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG	13,3921		0,13,1954	127	110	115		491,491,491	5.7	1	1		115	0,8334		0,0,4167	yes	missense,missense,missense	SRGAP2	NM_001042758.1,NM_001170637.1,NM_015326.2	101,101,101	0,13,6121	TT,TC,CC		0.0,0.3305,0.106	probably-damaging,probably-damaging,probably-damaging	250/837,250/1071,250/1072	206566947	13,12255	1967	4167	6134	SO:0001583	missense	100996712	exon3			AAAGCCCGGAATG	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.328C>T	1.37:g.206566947C>T	ENSP00000390898:p.Arg110Trp	Somatic	553	0	0		WXS	Illumina HiSeq	Phase_I	647	99	0.153014	NM_001271887		Nonsense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.139626|4.139626	0.77775|0.77775	0.003305|0.003305	0.0|0.0	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007	.|T	.|0.16457	.|2.34	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42899|0.42899	0.1223|0.1223	.|.	.|.	.|.	.|0.30974	.|N	.|0.7227589999999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.999;0.999	T|T	0.48927|0.48927	-0.8991|-0.8991	3|8	.|0.87932	.|D	.|0	.|.	14.6067|14.6067	0.68483|0.68483	0.1807:0.8193:0.0:0.0|0.1807:0.8193:0.0:0.0	.|.	.|97;250;250	.|B4DDU0;O75044;B7Z3G4	.|.;FNBP2_HUMAN;.	L|W	163|164;110	.|ENSP00000390898:R110W	.|ENSP00000390898:R110W	P|R	+|+	2|1	0|2	SRGAP2|SRGAP2	204633570|204633570	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.909000|2.909000	0.48758|0.48758	2.705000|2.705000	0.92388|0.92388	0.555000|0.555000	0.69702|0.69702	CCG|CGG	.	.	none		0.428	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		T	206566947	C	T	206566947	3	4	22	1	0	0	0	0	1	0	0	0	15145	643	23	1	502	1	SRGAP2	1	206566947	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	665947	206566947	42683674	953	6061										
SRGAP2	23380	hgsc.bcm.edu	37	chr1	206574931	206574931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaccagtgacaagcagcGcctcatggagatgtacaaca	10	12	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:206574931G>A	ENST00000414007.1	+	4	563	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	328	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACAAGCAGCGCCTCATGGAG	0.527																																					p.R174H		Atlas-SNP	.											SRGAP2_ENST00000414007,NS,carcinoma,0,3	.	.	3	0			c.G521A						scavenged	.						16	14	14					1																	206574931		1795	4026	5821	SO:0001583	missense	100996712	exon4			AGCAGCGCCTCAT	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.563G>A	1.37:g.206574931G>A	ENSP00000390898:p.Arg188His	Somatic	1644	1	0.000608273		WXS	Illumina HiSeq	Phase_I	1642	188	0.114495	NM_001271887		Missense_Mutation	SNP	ENST00000414007.1	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.949468	0.92660	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.13778	2.56	6.02	6.02	0.97574	.	0.054744	0.64402	D	0.000001	T	0.21881	0.0527	.	.	.	0.80722	D	1.000000	D;P;B	0.60160	0.987;0.602;0.174	P;B;B	0.45474	0.482;0.107;0.02	T	0.00601	-1.1650	8	0.49607	T	0.09	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	175;328;327	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	H	241;188	ENSP00000390898:R188H	ENSP00000390898:R188H	R	+	2	0	SRGAP2	204641554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.558000	0.73942	2.857000	0.98124	0.650000	0.86243	CGC	.	.	none		0.527	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		A	206574931	G	A	206574931	3	1	22	1	0	0	0	0	1	0	0	0	15145	1087	38	1	741	1	SRGAP2	1	206574931	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7984	206574931	42675690	954	6062										
IKBKE	9641	hgsc.bcm.edu	37	chr1	206658404	206658404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaactgaggtccaggctgCggactgtgagtgaggctgga	17	8	0	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:206658404C>T	ENST00000367120.3	+	14	1871	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	IKBKE_ENST00000537984.1_Missense_Mutation_p.R415W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	500	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTCCAGGCTGCGGACTGTGAG	0.617																																					p.R500W		Atlas-SNP	.											.	IKBKE	77	.	0			c.C1498T						PASS	.						47	42	44					1																	206658404		2203	4300	6503	SO:0001583	missense	9641	exon14			AGGCTGCGGACTG	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1498C>T	1.37:g.206658404C>T	ENSP00000356087:p.Arg500Trp	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	122	56	0.459016	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070122	0.76301	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.64085	-0.08;0.08	5.24	4.32	0.51571	.	0.527792	0.20321	N	0.094636	T	0.60274	0.2256	L	0.36672	1.1	0.22961	N	0.998503	D;D	0.69078	0.991;0.997	P;P	0.50192	0.549;0.634	T	0.55611	-0.8114	10	0.66056	D	0.02	2.2858	12.7736	0.57436	0.1634:0.8366:0.0:0.0	.	415;500	Q3B754;Q14164	.;IKKE_HUMAN	W	500;415	ENSP00000356087:R500W;ENSP00000444529:R415W	ENSP00000356087:R500W	R	+	1	2	IKBKE	204725027	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	1.450000	0.35134	1.204000	0.43247	0.563000	0.77884	CGG	.	.	none		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206658404	C	T	206658404	3	4	22	1	0	0	0	0	1	0	0	0	7612	759	27	1	1544	1	IKBKE	1	206658404	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83473	206658404	42592217	955	6063										
IKBKE	9641	hgsc.bcm.edu	37	chr1	206665052	206665052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgtgcagaagtatcaagCgtccttagtcacacacggca	11	11	2	1	rs12059562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:206665052C>T	ENST00000367120.3	+	18	2178	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	C1orf147_ENST00000367119.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.A517V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	602	Interaction with DDX3X.		A -> V (in dbSNP:rs12059562). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.4}.		immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AAGTATCAAGCGTCCTTAGTC	0.557													C|||	1159	0.23143	0.2534	0.2478	5008	,	,		22562	0.4613		0.0099	False		,,,				2504	0.181				p.A602V		Atlas-SNP	.											.	IKBKE	77	.	0			c.C1805T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA	1037,3369	382.5+/-324.5	125,787,1291	108	103	105		1550,1805,1805	1.4	0	1	dbSNP_120	105	24,8576	18.5+/-59.3	0,24,4276	yes	missense,missense,missense	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	64,64,64	125,811,5567	TT,TC,CC		0.2791,23.5361,8.1578	benign,benign,benign	517/632,602/658,602/717	206665052	1061,11945	2203	4300	6503	SO:0001583	missense	9641	exon18			ATCAAGCGTCCTT	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1805C>T	1.37:g.206665052C>T	ENSP00000356087:p.Ala602Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	110	56	0.509091	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	426	0.19505494505494506	116	0.23577235772357724	61	0.1685082872928177	243	0.42482517482517484	6	0.0079155672823219	C	8.314	0.822823	0.16678	0.235361	0.002791	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.16196	2.36;2.36	5.55	1.36	0.22044	.	0.519447	0.20919	N	0.083317	T	0.00012	0.0000	N	0.17082	0.46	0.43603	P	0.004031000000000007	B;B	0.14805	0.008;0.011	B;B	0.09377	0.004;0.004	T	0.48547	-0.9026	9	0.27785	T	0.31	-4.9091	3.4142	0.07369	0.1793:0.5308:0.0:0.2899	rs12059562;rs52806460;rs12059562	517;602	Q3B754;Q14164	.;IKKE_HUMAN	V	602;517	ENSP00000356087:A602V;ENSP00000444529:A517V	ENSP00000356087:A602V	A	+	2	0	IKBKE	204731675	0.023000	0.18921	0.030000	0.17652	0.396000	0.30629	-0.021000	0.12504	0.295000	0.22570	-0.258000	0.10820	GCG	C|0.864;T|0.136	0.136	strong		0.557	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206665052	C	T	206665052	3	4	22	1	0	0	0	0	1	0	0	0	7612	768	27	1	1867	1	IKBKE	1	206665052	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6648	206665052	42585569	956	6064										
IKBKE	9641	hgsc.bcm.edu	37	chr1	206666601	206666601	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtatggcttccctgcagctCctggaagagctatctcacca	9	13	1	1	rs144382861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:206666601C>A	ENST00000367120.3	+	20	2308	c.1935C>A	c.(1933-1935)ctC>ctA	p.L645L	C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000537984.1_Silent_p.L560L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	645	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCTGCAGCTCCTGGAAGAGC	0.587													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17760	0.0		0.0	False		,,,				2504	0.0				p.L645L		Atlas-SNP	.											.	IKBKE	77	.	0			c.C1935A						PASS	.	C	,,	21,4385	28.1+/-56.4	0,21,2182	61	68	65		1680,,1935	2	1	1	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	0,21,6482	AA,AC,CC		0.0,0.4766,0.1615	,,	560/632,,645/717	206666601	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	9641	exon20			GCAGCTCCTGGAA	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1935C>A	1.37:g.206666601C>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_014002	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																			C|0.999;A|0.001	0.001	strong		0.587	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			A	206666601	C	A	206666601	2	1	22	1	0	0	0	0	0	0	0	1	7612	842	30	4		4	IKBKE	1	206666601	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1549	206666601	42584020	957	6065										
PIGR	5284	hgsc.bcm.edu	37	chr1	207106444	207106444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgttctcaatctcccgAaaaccagagtctagcacctt	6	13	3	1	rs172361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207106444A>G	ENST00000356495.4	-	7	1956	c.1773T>C	c.(1771-1773)ttT>ttC	p.F591F	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	591					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.F591F(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAATCTCCCGAAAACCAGAGT	0.552													A|||	1304	0.260383	0.7398	0.1916	5008	,	,		20444	0.121		0.0258	False		,,,				2504	0.046				p.F591F		Atlas-SNP	.											PIGR,NS,carcinoma,0,1	PIGR	98	1	1	Substitution - coding silent(1)	stomach(1)	c.T1773C						scavenged	.	A		2791,1615	662.4+/-401.0	915,961,327	84	84	84		1773	0.4	0	1	dbSNP_79	84	251,8349	98.1+/-159.7	7,237,4056	no	coding-synonymous	PIGR	NM_002644.3		922,1198,4383	GG,GA,AA		2.9186,36.6546,23.3892		591/765	207106444	3042,9964	2203	4300	6503	SO:0001819	synonymous_variant	5284	exon7			CTCCCGAAAACCA		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1773T>C	1.37:g.207106444A>G		Somatic	86	2	0.0232558		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_002644	Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	CCDS1474.1																																																																																			A|0.773;G|0.227	0.227	strong		0.552	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		G	207106444	A	G	207106444	2	3	22	1	0	0	0	0	0	0	0	1	11897	243	9	2		2	PIGR	1	207106444	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	439843	207106444	42144177	958	6066										
PIGR	5284	hgsc.bcm.edu	37	chr1	207106478	207106478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccttctcatcaggagcaGcgtctgccttcgctaggctg	11	14	3	0	rs291102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207106478G>A	ENST00000356495.4	-	7	1922	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	580			A -> V (in dbSNP:rs291102).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.A580V(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCAGGAGCAGCGTCTGCCTT	0.537													G|||	1336	0.266773	0.7632	0.1931	5008	,	,		20941	0.121		0.0258	False		,,,				2504	0.046				p.A580V		Atlas-SNP	.											PIGR,rectum,carcinoma,-1,3	PIGR	98	3	1	Substitution - Missense(1)	stomach(1)	c.C1739T	GRCh37	CM035762	PIGR	M	rs291102	PASS	.	G	VAL/ALA	2890,1516	674.5+/-402.9	975,940,288	66	65	66	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1739	1.1	0	1	dbSNP_79	66	252,8348	98.4+/-159.9	7,238,4055	yes	missense	PIGR	NM_002644.3	64	982,1178,4343	AA,AG,GG		2.9302,34.4076,24.1581	benign	580/765	207106478	3142,9864	2203	4300	6503	SO:0001583	missense	5284	exon7			GGAGCAGCGTCTG		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1739C>T	1.37:g.207106478G>A	ENSP00000348888:p.Ala580Val	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_002644	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	504	0.23076923076923078	360	0.7317073170731707	73	0.20165745856353592	59	0.10314685314685315	12	0.0158311345646438	G	6.784	0.513547	0.12944	0.655924	0.029302	ENSG00000162896	ENST00000356495	T	0.16324	2.35	2.02	1.08	0.20341	.	1.246790	0.05490	N	0.556394	T	0.00012	0.0000	N	0.05230	-0.09	0.80722	P	0.0	B	0.13594	0.008	B	0.09377	0.004	T	0.32613	-0.9900	9	0.31617	T	0.26	-32.5565	4.7313	0.12966	0.1905:0.0:0.8095:0.0	rs291102;rs508707;rs1150259;rs52792010;rs57447753;rs291102	580	P01833	PIGR_HUMAN	V	580	ENSP00000348888:A580V	ENSP00000348888:A580V	A	-	2	0	PIGR	205173101	0.001000	0.12720	0.008000	0.14137	0.004000	0.04260	0.523000	0.22925	0.422000	0.26005	-0.300000	0.09419	GCT	G|0.748;T|0.004	.	strong		0.537	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207106478	G	A	207106478	3	1	22	1	0	0	0	0	1	0	0	0	11897	971	34	2	575	2	PIGR	1	207106478	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34	207106478	42144143	959	6067										
PIGR	5284	hgsc.bcm.edu	37	chr1	207110888	207110888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacgctgaacagtaactgGccagtaccctgaatatcaag	8	11	1	2	rs291097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207110888G>A	ENST00000356495.4	-	4	780	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	199	Ig-like V-type 2.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.G199G(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGTAACTGGCCAGTACCCT	0.478													G|||	1162	0.232029	0.6921	0.1844	5008	,	,		23475	0.0546		0.0249	False		,,,				2504	0.0399				p.G199G		Atlas-SNP	.											PIGR,NS,carcinoma,0,1	PIGR	98	1	1	Substitution - coding silent(1)	stomach(1)	c.C597T						PASS	.	G		2629,1777	643.2+/-397.8	813,1003,387	80	73	75		597	-2.9	0	1	dbSNP_79	75	235,8365	94.2+/-156.2	5,225,4070	no	coding-synonymous	PIGR	NM_002644.3		818,1228,4457	AA,AG,GG		2.7326,40.3314,22.0206		199/765	207110888	2864,10142	2203	4300	6503	SO:0001819	synonymous_variant	5284	exon4			TAACTGGCCAGTA		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.597C>T	1.37:g.207110888G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	134	59	0.440298	NM_002644	Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	CCDS1474.1																																																																																			G|0.779;A|0.221	0.221	strong		0.478	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207110888	G	A	207110888	2	1	22	1	0	0	0	0	0	0	0	1	11897	1190	42	2		2	PIGR	1	207110888	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4410	207110888	42139733	960	6068										
C4BPB	725	hgsc.bcm.edu	37	chr1	207269919	207269919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctattttgaaggaaataaCttcaccttaggatccaccat	7	9	1	1	rs8942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207269919C>T	ENST00000243611.5	+	4	756	c.462C>T	c.(460-462)aaC>aaT	p.N154N	C4BPB_ENST00000367076.3_Silent_p.N153N|C4BPB_ENST00000391923.1_Silent_p.N154N|C4BPB_ENST00000367078.3_Silent_p.N154N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	154	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						AAGGAAATAACTTCACCTTAG	0.468													T|||	1952	0.389776	0.885	0.2867	5008	,	,		20355	0.1617		0.1769	False		,,,				2504	0.2474				p.N154N		Atlas-SNP	.											.	C4BPB	19	.	0			c.C462T						PASS	.	T	,,,,	3366,1040	381.8+/-324.2	1304,758,141	101	101	101		462,459,462,459,462	-2	0	1	dbSNP_52	101	1614,6986	742.6+/-407.2	155,1304,2841	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C4BPB	NM_000716.3,NM_001017364.1,NM_001017365.1,NM_001017366.1,NM_001017367.1	,,,,	1459,2062,2982	TT,TC,CC		18.7674,23.6042,38.29	,,,,	154/253,153/252,154/253,153/252,154/253	207269919	4980,8026	2203	4300	6503	SO:0001819	synonymous_variant	725	exon5			AAATAACTTCACC	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.462C>T	1.37:g.207269919C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	107	55	0.514019	NM_001017365	A5JYP8|D3DT81|Q5VVR0|Q9BS25	Silent	SNP	ENST00000243611.5	37	CCDS1476.1																																																																																			C|0.623;T|0.377	0.377	strong		0.468	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		T	207269919	C	T	207269919	2	4	22	1	0	0	0	0	0	0	0	1	2250	564	20	2		2	C4BPB	1	207269919	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159031	207269919	41980702	961	6069										
C4BPA	722	hgsc.bcm.edu	37	chr1	207305069	207305069	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatttgagatggaccccAtaccaaggatgtgagggtga	12	6	0	3	rs6663608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207305069A>C	ENST00000367070.3	+	8	1262	c.1068A>C	c.(1066-1068)ccA>ccC	p.P356P		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	356	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGGACCCCATACCAAGGAT	0.368													A|||	276	0.0551118	0.1967	0.0187	5008	,	,		20256	0.0		0.001	False		,,,				2504	0.002				p.P356P		Atlas-SNP	.											.	C4BPA	70	.	0			c.A1068C						PASS	.	A		733,3673	284.3+/-277.5	69,595,1539	117	101	106		1068	-8.7	0	1	dbSNP_116	106	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	C4BPA	NM_000715.3		69,601,5833	CC,CA,AA		0.0698,16.6364,5.682		356/598	207305069	739,12267	2203	4300	6503	SO:0001819	synonymous_variant	722	exon8			GACCCCATACCAA	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1068A>C	1.37:g.207305069A>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	117	52	0.444444	NM_000715	Q5VVQ8	Silent	SNP	ENST00000367070.3	37	CCDS1477.1																																																																																			A|0.930;C|0.070	0.070	strong		0.368	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			C	207305069	A	C	207305069	2	2	22	1	0	0	0	0	0	0	0	1	2249	204	8	5		5	C4BPA	1	207305069	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35150	207305069	41945552	962	6070										
CR1	1378	hgsc.bcm.edu	37	chr1	207753621	207753621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaatcctgcatggtgagcAtaccccaagccatcaggaca	9	12	1	2	rs2274567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207753621A>G	ENST00000367049.4	+	30	4973	c.4973A>G	c.(4972-4974)cAt>cGt	p.H1658R	CR1_ENST00000367052.1_Missense_Mutation_p.H1208R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.H1208R|CR1_ENST00000400960.2_Missense_Mutation_p.H1208R|CR1_ENST00000367053.1_Missense_Mutation_p.H1208R|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1208	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATGGTGAGCATACCCCAAGC	0.522													A|||	1474	0.294329	0.2186	0.2709	5008	,	,		18110	0.3274		0.1819	False		,,,				2504	0.4949				p.H1658R		Atlas-SNP	.											.	CR1	354	.	0			c.A4973G						PASS	.	A	ARG/HIS,ARG/HIS	875,3049		94,687,1181	126	127	126		3623,4973	0.2	0	1	dbSNP_100	126	1524,6788		129,1266,2761	no	missense,missense	CR1	NM_000573.3,NM_000651.4	29,29	223,1953,3942	GG,GA,AA		18.3349,22.2987,19.6061	probably-damaging,probably-damaging	1208/2040,1658/2490	207753621	2399,9837	1962	4156	6118	SO:0001583	missense	1378	exon30			GTGAGCATACCCC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4973A>G	1.37:g.207753621A>G	ENSP00000356016:p.His1658Arg	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	227	120	0.528634	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	487	0.222985347985348	114	0.23170731707317074	108	0.2983425414364641	134	0.23426573426573427	131	0.17282321899736147	A	0.454	-0.892160	0.02491	0.222987	0.183349	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.34	0.182	0.15077	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	N	0.17674	0.51	0.80722	P	0.0	B;B;D	0.65815	0.147;0.08;0.995	B;B;D	0.74674	0.168;0.049;0.984	T	0.09907	-1.0653	8	0.25106	T	0.35	.	1.2006	0.01884	0.5248:0.1803:0.1191:0.1757	rs2274567;rs3860293;rs17047280;rs52826014;rs60859711;rs2274567	1208;1208;1658	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	R	1208;1208;1208;1208;758;1658	ENSP00000356019:H1208R;ENSP00000356018:H1208R;ENSP00000356020:H1208R;ENSP00000383744:H1208R;ENSP00000436139:H758R;ENSP00000356016:H1658R	ENSP00000356016:H1658R	H	+	2	0	CR1	205820244	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.814000	0.27239	0.164000	0.19529	0.529000	0.55759	CAT	A|0.785;G|0.214	0.214	strong		0.522	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207753621	A	G	207753621	3	3	22	1	0	0	0	0	1	0	0	0	3840	217	8	2	5091	2	CR1	1	207753621	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	448552	207753621	41497000	963	6071										
CR1	1378	hgsc.bcm.edu	37	chr1	207782889	207782889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaagttgaaaatgcaattAgagtaccaggaaacaggagt	11	5	0	3	rs17047661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207782889A>G	ENST00000367049.4	+	37	6151	c.6151A>G	c.(6151-6153)Aga>Gga	p.R2051G	RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R1601G|CR1_ENST00000367052.1_Missense_Mutation_p.R1601G|CR1_ENST00000367053.1_Missense_Mutation_p.R1601G|CR1_ENST00000400960.2_Missense_Mutation_p.R1601G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1601					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGCAATTAGAGTACCAGG	0.468													a|||	984	0.196486	0.7103	0.0519	5008	,	,		19576	0.0		0.0089	False		,,,				2504	0.0				p.R2051G		Atlas-SNP	.											.	CR1	354	.	0			c.A6151G	GRCh37	CM015242	CR1	M	rs17047661	PASS	.	C	GLY/ARG,GLY/ARG	2160,1626		630,900,363	59	58	58		4801,6151	-2	0	1	dbSNP_123	58	27,8203		0,27,4088	yes	missense,missense	CR1	NM_000573.3,NM_000651.4	125,125	630,927,4451	GG,GA,AA		0.3281,42.9477,18.2007	probably-damaging,probably-damaging	1601/2040,2051/2490	207782889	2187,9829	1893	4115	6008	SO:0001583	missense	1378	exon37			GCAATTAGAGTAC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6151A>G	1.37:g.207782889A>G	ENSP00000356016:p.Arg2051Gly	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	152	77	0.506579	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	333	0.15247252747252749	314	0.6382113821138211	17	0.04696132596685083	0	0.0	2	0.002638522427440633	a	8.718	0.913598	0.17907	0.570523	0.003281	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;1.62;-0.11	2.54	-2.03	0.07365	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	M	0.80422	2.495	0.80722	P	0.0	B;D;D	0.59767	0.257;0.982;0.986	B;D;P	0.69479	0.069;0.964;0.79	T	0.47222	-0.9134	8	0.23891	T	0.37	.	4.646	0.12572	0.3825:0.4843:0.1331:0.0	rs17047661;rs52836690;rs17047661	1601;1601;2051	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	G	1601;1601;1601;1601;1151;2051	ENSP00000356019:R1601G;ENSP00000356018:R1601G;ENSP00000356020:R1601G;ENSP00000383744:R1601G;ENSP00000436139:R1151G;ENSP00000356016:R2051G	ENSP00000356016:R2051G	R	+	1	2	CR1	205849512	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.157000	0.10085	-0.445000	0.07159	-0.525000	0.04345	AGA	A|0.769;G|0.231	0.231	strong		0.468	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207782889	A	G	207782889	3	3	22	1	0	0	0	0	1	0	0	0	3840	412	15	3	6297	3	CR1	1	207782889	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29268	207782889	41467732	964	6072										
CR1	1378	hgsc.bcm.edu	37	chr1	207782931	207782931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttaccctcactgagatcAtcagatttagatgtcagccc	6	12	5	3	rs6691117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207782931A>G	ENST00000367049.4	+	37	6193	c.6193A>G	c.(6193-6195)Atc>Gtc	p.I2065V	CR1_ENST00000367051.1_Missense_Mutation_p.I1615V|CR1_ENST00000367052.1_Missense_Mutation_p.I1615V|CR1_ENST00000367053.1_Missense_Mutation_p.I1615V|CR1_ENST00000400960.2_Missense_Mutation_p.I1615V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1615					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTGAGATCATCAGATTTAG	0.498													G|||	2471	0.493411	0.8722	0.3761	5008	,	,		19776	0.3433		0.2256	False		,,,				2504	0.4949				p.I2065V		Atlas-SNP	.											.	CR1	354	.	0			c.A6193G						PASS	.	G	VAL/ILE,VAL/ILE	2892,958		1089,714,122	36	37	37		4843,6193	2.5	0	1	dbSNP_116	37	1761,6497		162,1437,2530	yes	missense,missense	CR1	NM_000573.3,NM_000651.4	29,29	1251,2151,2652	GG,GA,AA		21.3248,24.8831,38.4291	benign,benign	1615/2040,2065/2490	207782931	4653,7455	1925	4129	6054	SO:0001583	missense	1378	exon37			GAGATCATCAGAT	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6193A>G	1.37:g.207782931A>G	ENSP00000356016:p.Ile2065Val	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	850	0.3891941391941392	408	0.8292682926829268	135	0.3729281767955801	143	0.25	164	0.21635883905013192	G	0.017	-1.509804	0.00984	0.751169	0.213248	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	2.54	2.54	0.30619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	N	0.00246	-1.78	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.0;0.0;0.005	T	0.38866	-0.9641	8	0.02654	T	1	.	5.5311	0.16985	0.1589:0.0:0.8411:0.0	rs6691117;rs59510794;rs6691117	1615;1615;2065	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	V	1615;1615;1615;1615;2065	ENSP00000356019:I1615V;ENSP00000356018:I1615V;ENSP00000356020:I1615V;ENSP00000383744:I1615V;ENSP00000356016:I2065V	ENSP00000356016:I2065V	I	+	1	0	CR1	205849554	0.801000	0.28930	0.004000	0.12327	0.078000	0.17371	2.671000	0.46842	0.637000	0.30526	-0.355000	0.07637	ATC	A|0.601;G|0.399	0.399	strong		0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207782931	A	G	207782931	3	3	22	1	0	0	0	0	1	0	0	0	3840	217	8	2	6339	2	CR1	1	207782931	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42	207782931	41467690	965	6073										
CR1	1378	hgsc.bcm.edu	37	chr1	207790088	207790088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccgctgcacaagtgaccCtcaagggaatggggtttgga	13	10	1	1	rs3811381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207790088C>G	ENST00000367049.4	+	41	6830	c.6830C>G	c.(6829-6831)cCt>cGt	p.P2277R	CR1_ENST00000367051.1_Missense_Mutation_p.P1827R|CR1_ENST00000367052.1_Missense_Mutation_p.P1827R|CR1_ENST00000367053.1_Missense_Mutation_p.P1827R|CR1_ENST00000400960.2_Missense_Mutation_p.P1827R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1827					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAAGTGACCCTCAAGGGAAT	0.517													C|||	1316	0.26278	0.1172	0.2608	5008	,	,		19452	0.3224		0.1809	False		,,,				2504	0.4836				p.P2277R		Atlas-SNP	.											.	CR1	354	.	0			c.C6830G	GRCh37	CM025385	CR1	M	rs3811381	PASS	.	C	ARG/PRO,ARG/PRO	498,3414		34,430,1492	146	147	147		5480,6830	-5.6	0	1	dbSNP_107	147	1508,6762		125,1258,2752	no	missense,missense	CR1	NM_000573.3,NM_000651.4	103,103	159,1688,4244	GG,GC,CC		18.2346,12.7301,16.4669	benign,benign	1827/2040,2277/2490	207790088	2006,10176	1956	4135	6091	SO:0001583	missense	1378	exon41			GTGACCCTCAAGG	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6830C>G	1.37:g.207790088C>G	ENSP00000356016:p.Pro2277Arg	Somatic	431	0	0		WXS	Illumina HiSeq	Phase_I	406	192	0.472906	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	429|429	0.19642857142857142|0.19642857142857142	64|64	0.13008130081300814|0.13008130081300814	102|102	0.281767955801105|0.281767955801105	131|131	0.229020979020979|0.229020979020979	132|132	0.1741424802110818|0.1741424802110818	C|C	0.010|0.010	-1.745772|-1.745772	0.00669|0.00669	0.127301|0.127301	0.182346|0.182346	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0;2.0	4.15|4.15	-5.58|-5.58	0.02512|0.02512	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.05078|0.05078	-0.115|-0.115	0.80722|0.80722	P|P	0.0|0.0	.|B;P	.|0.38711	.|0.005;0.643	.|B;B	.|0.32211	.|0.032;0.142	T|T	0.39643|0.39643	-0.9604|-0.9604	4|8	.|0.11794	.|T	.|0.64	.|.	3.1972|3.1972	0.06637|0.06637	0.5482:0.1261:0.1987:0.127|0.5482:0.1261:0.1987:0.127	rs3811381;rs56791502|rs3811381;rs56791502	.|1827;2277	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|R	450|1827;1827;1827;1827;2277	.|ENSP00000356019:P1827R;ENSP00000356018:P1827R;ENSP00000356020:P1827R;ENSP00000383744:P1827R;ENSP00000356016:P2277R	.|ENSP00000356016:P2277R	L|P	+|+	1|2	0|0	CR1|CR1	205856711|205856711	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.775000|-0.775000	0.04679|0.04679	-1.266000|-1.266000	0.02446|0.02446	-2.118000|-2.118000	0.00350|0.00350	CTC|CCT	C|0.800;G|0.200	0.200	strong		0.517	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207790088	C	G	207790088	3	3	22	1	0	0	0	0	1	0	0	0	3840	681	24	4	6992	4	CR1	1	207790088	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7157	207790088	41460533	966	6074										
CR1L	1379	hgsc.bcm.edu	37	chr1	207890818	207890818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctttctagaaatcttttGtccaaatcctccagctatcc	3	12	3	1	rs113806677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207890818G>A	ENST00000508064.2	+	11	1484	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	475	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAATCTTTTGTCCAAATCCT	0.388													g|||	139	0.0277556	0.1014	0.0072	5008	,	,		18100	0.0		0.0	False		,,,				2504	0.0				p.C475Y		Atlas-SNP	.											CR1L_ENST00000508064,NS,carcinoma,-1,1	CR1L	97	1	0			c.G1424A						PASS	.	G	TYR/CYS	344,3278		18,308,1485	80	74	76		1424	3	0.1	1	dbSNP_132	76	1,8137		0,1,4068	yes	missense	CR1L	NM_175710.1	194	18,309,5553	AA,AG,GG		0.0123,9.4975,2.9337	probably-damaging	475/570	207890818	345,11415	1811	4069	5880	SO:0001583	missense	1379	exon11			TCTTTTGTCCAAA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1424G>A	1.37:g.207890818G>A	ENSP00000421736:p.Cys475Tyr	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	210	112	0.533333	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	52	0.023809523809523808	50	0.1016260162601626	2	0.0055248618784530384	0	0.0	0	0.0	.	14.21	2.467416	0.43839	0.094975	1.23E-4	ENSG00000197721	ENST00000508064	D	0.99784	-6.74	3.01	3.01	0.34805	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.95401	0.8507	H	0.99719	4.725	0.25098	N	0.99081	D	0.89917	1.0	D	0.97110	1.0	T	0.80630	-0.1297	9	0.87932	D	0	.	10.1225	0.42630	0.0:0.0:1.0:0.0	.	475	Q2VPA4	CR1L_HUMAN	Y	475	ENSP00000421736:C475Y	ENSP00000421736:C475Y	C	+	2	0	CR1L	205957441	0.981000	0.34729	0.142000	0.22268	0.288000	0.27193	4.125000	0.57931	1.639000	0.50556	0.305000	0.20034	TGT	G|0.976;A|0.024	0.024	strong		0.388	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		A	207890818	G	A	207890818	3	1	22	1	0	0	0	0	1	0	0	0	3841	1377	48	2	1466	2	CR1L	1	207890818	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100730	207890818	41359803	967	6075										
CR1L	1379	hgsc.bcm.edu	37	chr1	207890892	207890892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atattccctatggaaaagaaGtatcttacacatgtgacccc	6	10	1	2	rs116455739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:207890892G>A	ENST00000508064.2	+	11	1558	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	500	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAAAAGAAGTATCTTACAC	0.478													a|||	149	0.0297524	0.003	0.0317	5008	,	,		17826	0.005		0.0547	False		,,,				2504	0.0644				p.V500I		Atlas-SNP	.											.	CR1L	97	.	0			c.G1498A						PASS	.	G	ILE/VAL	40,3744		0,40,1852	125	118	121		1498	-5.7	0	1	dbSNP_132	121	510,7700		19,472,3614	no	missense	CR1L	NM_175710.1	29	19,512,5466	AA,AG,GG		6.2119,1.0571,4.5856	benign	500/570	207890892	550,11444	1892	4105	5997	SO:0001583	missense	1379	exon11			AAAGAAGTATCTT	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1498G>A	1.37:g.207890892G>A	ENSP00000421736:p.Val500Ile	Somatic	325	1	0.00307692		WXS	Illumina HiSeq	Phase_I	306	137	0.447712	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	43	0.019688644688644688	1	0.0020325203252032522	5	0.013812154696132596	1	0.0017482517482517483	36	0.047493403693931395	.	8.823	0.937939	0.18206	0.010571	0.062119	ENSG00000197721	ENST00000508064	T	0.68331	-0.32	3.01	-5.66	0.02451	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.10035	0.0246	L	0.42632	1.34	0.09310	N	1	B	0.02656	0.0	B	0.23716	0.048	T	0.23583	-1.0184	9	0.16896	T	0.51	.	8.581	0.33628	0.4874:0.0:0.5126:0.0	.	500	Q2VPA4	CR1L_HUMAN	I	500	ENSP00000421736:V500I	ENSP00000421736:V500I	V	+	1	0	CR1L	205957515	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-3.849000	0.00351	-1.208000	0.02634	-0.704000	0.03662	GTA	G|0.972;A|0.028	0.028	strong		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		A	207890892	G	A	207890892	3	1	22	1	0	0	0	0	1	0	0	0	3841	1029	36	2	1540	2	CR1L	1	207890892	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74	207890892	41359729	968	6076										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208207839	208207839	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccctcgtggttctcaccGtatctgctgatggacgtccg	11	14	2	1	rs3736963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:208207839G>A	ENST00000367033.3	-	27	5620	c.4863C>T	c.(4861-4863)taC>taT	p.Y1621Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1621					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTCACCGTATCTGCTGA	0.602													G|||	2217	0.442692	0.5401	0.4539	5008	,	,		19932	0.2579		0.6203	False		,,,				2504	0.3108				p.Y1621Y		Atlas-SNP	.											.	PLXNA2	178	.	0			c.C4863T						PASS	.	G		2430,1976	619.1+/-393.3	653,1124,426	92	82	85		4863	-3.5	0.9	1	dbSNP_107	85	4941,3659	622.5+/-397.3	1414,2113,773	yes	coding-synonymous-near-splice	PLXNA2	NM_025179.3		2067,3237,1199	AA,AG,GG		42.5465,44.8479,43.3262		1621/1895	208207839	7371,5635	2203	4300	6503	SO:0001630	splice_region_variant	5362	exon27			CTCACCGTATCTG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4864+1C>T	1.37:g.208207839G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	CCDS31013.1																																																																																			G|0.471;A|0.529	0.529	strong		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Silent	A	208207839	G	A	208207839	5	1	22	1	0	0	0	0	0	0	1	0	12120	1159	40	1	845	1	PLXNA2	1	208207839	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	316947	208207839	41042782	969	6077										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208390155	208390155	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgccctggtagcaggactgCaggcgctccttgatctgcaa					rs4844657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:208390155C>T	ENST00000367033.3	-	2	1870	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCAGGACTGCAGGCGCTCCT	0.612													C|||	639	0.127596	0.0461	0.2046	5008	,	,		22102	0.1429		0.2078	False		,,,				2504	0.0849				p.L371L		Atlas-SNP	.											.	PLXNA2	178	.	0			c.G1113A						PASS	.	C		258,4148	146.5+/-181.1	8,242,1953	70	67	68		1113	0.8	1	1	dbSNP_111	68	1646,6954	303.7+/-306.6	167,1312,2821	no	coding-synonymous	PLXNA2	NM_025179.3		175,1554,4774	TT,TC,CC		19.1395,5.8557,14.6394		371/1895	208390155	1904,11102	2203	4300	6503	SO:0001819	synonymous_variant	5362	exon2			GGACTGCAGGCGC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1113G>A	1.37:g.208390155C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	CCDS31013.1																																																																																			C|0.856;T|0.144	0.144	strong		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208390155	C	T	208390155	2	4	22	1	0	0	0	0	0	0	0	1	12120	697	25	2		2	PLXNA2	1	208390155	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	182316	208390155	40860466	970	6078	126	2								
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208390162	208390162	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtagcaggactgcaggcgcTccttgatctgcaagttgatg					rs4844658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:208390162T>C	ENST00000367033.3	-	2	1863	c.1106A>G	c.(1105-1107)gAg>gGg	p.E369G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	369	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		E -> G (in dbSNP:rs4844658). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9455484}.		axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGCGCTCCTTGATCTG	0.602													T|||	594	0.11861	0.0121	0.2032	5008	,	,		21845	0.1429		0.2087	False		,,,				2504	0.0849				p.E369G		Atlas-SNP	.											.	PLXNA2	178	.	0			c.A1106G						PASS	.	T	GLY/GLU	148,4258	101.6+/-140.2	3,142,2058	68	66	66		1106	5.8	1	1	dbSNP_111	66	1646,6954	303.3+/-306.4	168,1310,2822	yes	missense	PLXNA2	NM_025179.3	98	171,1452,4880	CC,CT,TT		19.1395,3.3591,13.7936	benign	369/1895	208390162	1794,11212	2203	4300	6503	SO:0001583	missense	5362	exon2			AGGCGCTCCTTGA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1106A>G	1.37:g.208390162T>C	ENSP00000356000:p.Glu369Gly	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	306	0.1401098901098901	11	0.022357723577235773	64	0.17679558011049723	72	0.1258741258741259	159	0.20976253298153033	T	19.24	3.789846	0.70337	0.033591	0.191395	ENSG00000076356	ENST00000367033	T	0.12039	2.72	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.123712	0.53938	D	0.000054	T	0.00039	0.0001	M	0.83603	2.65	0.19300	P	0.9999736942	D;P	0.57257	0.979;0.66	P;B	0.57846	0.828;0.215	T	0.07888	-1.0749	9	0.87932	D	0	.	11.3143	0.49383	0.1358:0.0:0.0:0.8642	rs4844658;rs17458917;rs4844658	423;369	O75051-2;O75051	.;PLXA2_HUMAN	G	369	ENSP00000356000:E369G	ENSP00000356000:E369G	E	-	2	0	PLXNA2	206456785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.876000	0.69667	2.232000	0.73038	0.533000	0.62120	GAG	T|0.865;C|0.135	0.135	strong		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208390162	T	C	208390162	3	2	22	1	0	0	0	0	1	0	0	0	12120	1551	54	3	4702	3	PLXNA2	1	208390162	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7	208390162	40860459	971	6079	126	2								
LAMB3	3914	hgsc.bcm.edu	37	chr1	209788703	209788703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagtcctgtcaggtccgcTgagcgcagcatgatggcctg	13	13	1	2	rs1049607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:209788703T>C	ENST00000356082.4	-	23	3566	c.3432A>G	c.(3430-3432)tcA>tcG	p.S1144S	LAMB3_ENST00000391911.1_Silent_p.S1144S|LAMB3_ENST00000367030.3_Silent_p.S1144S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1144	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCAGGTCCGCTGAGCGCAGCA	0.592													t|||	2320	0.463259	0.6694	0.3689	5008	,	,		19698	0.381		0.3648	False		,,,				2504	0.4376				p.S1144S		Atlas-SNP	.											.	LAMB3	136	.	0			c.A3432G						PASS	.	T	,,	2646,1760	646.2+/-398.3	791,1064,348	114	93	100		3432,3432,3432	-10.8	0.1	1	dbSNP_86	100	3088,5512	471.9+/-368.2	555,1978,1767	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	,,	1346,3042,2115	CC,CT,TT		35.907,39.9455,44.0873	,,	1144/1173,1144/1173,1144/1173	209788703	5734,7272	2203	4300	6503	SO:0001819	synonymous_variant	3914	exon23			GTCCGCTGAGCGC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3432A>G	1.37:g.209788703T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	55	24	0.436364	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																			T|0.560;C|0.440	0.440	strong		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		C	209788703	T	C	209788703	2	2	22	1	0	0	0	0	0	0	0	1	8612	1567	55	3		3	LAMB3	1	209788703	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1398541	209788703	39461918	972	6080										
LAMB3	3914	hgsc.bcm.edu	37	chr1	209797061	209797061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtaggctgtgctcagcatcCggaaggctcctgtggcgaga	15	11	1	1	rs114174766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:209797061C>T	ENST00000356082.4	-	16	2281	c.2147G>A	c.(2146-2148)cGg>cAg	p.R716Q	LAMB3_ENST00000391911.1_Missense_Mutation_p.R716Q|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.R716Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	716	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCAGCATCCGGAAGGCTCC	0.652													c|||	9	0.00179712	0.0061	0.0014	5008	,	,		19113	0.0		0.0	False		,,,				2504	0.0				p.R716Q		Atlas-SNP	.											.	LAMB3	136	.	0			c.G2147A						PASS	.	T	GLN/ARG,GLN/ARG,GLN/ARG	23,4383	29.0+/-57.7	0,23,2180	31	31	31		2147,2147,2147	1.2	0.7	1	dbSNP_132	31	0,8600		0,0,4300	yes	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	43,43,43	0,23,6480	TT,TC,CC		0.0,0.522,0.1768	benign,benign,benign	716/1173,716/1173,716/1173	209797061	23,12983	2203	4300	6503	SO:0001583	missense	3914	exon16			AGCATCCGGAAGG	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2147G>A	1.37:g.209797061C>T	ENSP00000348384:p.Arg716Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	c	6.857	0.527355	0.13066	0.00522	0.0	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.35789	1.29;1.29;1.29	5.15	1.19	0.21007	.	0.666644	0.15639	N	0.251967	T	0.15435	0.0372	L	0.35723	1.085	0.18873	N	0.999981	B	0.16802	0.019	B	0.06405	0.002	T	0.23904	-1.0175	10	0.14252	T	0.57	.	4.7578	0.13093	0.1382:0.5549:0.0:0.3069	.	716	Q13751	LAMB3_HUMAN	Q	716	ENSP00000375778:R716Q;ENSP00000348384:R716Q;ENSP00000355997:R716Q	ENSP00000348384:R716Q	R	-	2	0	LAMB3	207863684	0.020000	0.18652	0.733000	0.30861	0.335000	0.28730	-0.012000	0.12699	0.043000	0.15746	-0.365000	0.07479	CGG	C|0.998;T|0.002	0.002	strong		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209797061	C	T	209797061	3	4	22	1	0	0	0	0	1	0	0	0	8612	652	23	1	1403	1	LAMB3	1	209797061	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8358	209797061	39453560	973	6081										
TRAF3IP3	80342	hgsc.bcm.edu	37	chr1	209933659	209933659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcaagggccctccaggcGgccaggacaggtgactgtcc	16	13	0	1	rs78296889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:209933659G>A	ENST00000367024.1	+	3	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R92Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R92Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R92Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R92Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	92						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCCTCCAGGCGGCCAGGACAG	0.597													G|||	87	0.0173722	0.0628	0.0058	5008	,	,		17422	0.0		0.0	False		,,,				2504	0.0				p.R92Q		Atlas-SNP	.											.	TRAF3IP3	68	.	0			c.G275A						PASS	.	G	GLN/ARG	220,4186	125.7+/-162.9	4,212,1987	25	26	25		275	1.8	0	1	dbSNP_132	25	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TRAF3IP3	NM_025228.2	43	4,215,6284	AA,AG,GG		0.0349,4.9932,1.7146	possibly-damaging	92/552	209933659	223,12783	2203	4300	6503	SO:0001583	missense	80342	exon3			CCAGGCGGCCAGG		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.275G>A	1.37:g.209933659G>A	ENSP00000355991:p.Arg92Gln	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	158	65	0.411392	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	G	11.69	1.712561	0.30322	0.049932	3.49E-4	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.46819	0.86;0.87;0.91;0.87;0.91	4.69	1.75	0.24633	.	2.341960	0.02012	N	0.047071	T	0.05044	0.0135	L	0.44542	1.39	0.09310	N	1	B;D;B;P	0.56746	0.003;0.977;0.007;0.938	B;P;B;B	0.46718	0.003;0.525;0.007;0.308	T	0.12682	-1.0538	10	0.13108	T	0.6	-7.597	7.4585	0.27280	0.2986:0.0:0.7014:0.0	.	92;92;92;92	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Q	92;92;75;92;92;92	ENSP00000383743:R92Q;ENSP00000355992:R92Q;ENSP00000355993:R92Q;ENSP00000355991:R92Q;ENSP00000010338:R92Q	ENSP00000010338:R92Q	R	+	2	0	TRAF3IP3	208000282	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.029000	0.12329	0.523000	0.28482	-0.448000	0.05591	CGG	G|0.984;A|0.016	0.016	strong		0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			A	209933659	G	A	209933659	3	1	22	1	0	0	0	0	1	0	0	0	16439	1116	39	1	277	1	TRAF3IP3	1	209933659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136598	209933659	39316962	974	6082										
KCNH1	3756	hgsc.bcm.edu	37	chr1	210857145	210857145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggcactcggaccctggCgcctgtagctttgcgtggtc	13	15	0	0	rs112047226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:210857145C>T	ENST00000271751.4	-	11	2475	c.2448G>A	c.(2446-2448)gcG>gcA	p.A816A	KCNH1_ENST00000367007.4_Silent_p.A789A			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	816					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGGACCCTGGCGCCTGTAGCT	0.662													C|||	50	0.00998403	0.034	0.0072	5008	,	,		16634	0.0		0.0	False		,,,				2504	0.0				p.A816A		Atlas-SNP	.											KCNH1,colon,carcinoma,-1,1	KCNH1	199	1	0			c.G2448A						PASS	.	C	,	127,4279	89.7+/-128.4	3,121,2079	44	50	48		2367,2448	-9.5	0	1	dbSNP_132	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KCNH1	NM_002238.3,NM_172362.2	,	3,121,6379	TT,TC,CC		0.0,2.8824,0.9765	,	789/963,816/990	210857145	127,12879	2203	4300	6503	SO:0001819	synonymous_variant	3756	exon11			CCCTGGCGCCTGT	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2448G>A	1.37:g.210857145C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	74	32	0.432432	NM_172362	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																			C|0.987;T|0.013	0.013	strong		0.662	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210857145	C	T	210857145	2	4	22	1	0	0	0	0	0	0	0	1	8031	755	27	1		1	KCNH1	1	210857145	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	923486	210857145	38393476	975	6083										
TMEM206	55248	hgsc.bcm.edu	37	chr1	212538572	212538572	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttcagcttatgtggctCgttgcctgacctcttctttt	8	11	3	2	rs12087727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:212538572C>T	ENST00000261455.4	-	8	1175	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	TMEM206_ENST00000535273.1_Silent_p.T407T	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	346						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTATGTGGCTCGTTGCCTGAC	0.413													C|||	517	0.103235	0.3767	0.0259	5008	,	,		16867	0.0		0.001	False		,,,				2504	0.0				p.T407T		Atlas-SNP	.											TMEM206,NS,carcinoma,-1,1	TMEM206	41	1	0			c.G1221A						PASS	.	C	,	1385,3021	459.2+/-352.2	228,929,1046	215	199	205		1221,1038	-11.8	0	1	dbSNP_120	205	21,8579	15.3+/-51.7	0,21,4279	no	coding-synonymous,coding-synonymous	TMEM206	NM_001198862.1,NM_018252.2	,	228,950,5325	TT,TC,CC		0.2442,31.4344,10.8104	,	407/412,346/351	212538572	1406,11600	2203	4300	6503	SO:0001819	synonymous_variant	55248	exon9			GTGGCTCGTTGCC	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.1038G>A	1.37:g.212538572C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	136	59	0.433824	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																			C|0.908;T|0.092	0.092	strong		0.413	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		T	212538572	C	T	212538572	2	4	22	1	0	0	0	0	0	0	0	1	16128	871	31	1		1	TMEM206	1	212538572	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1681427	212538572	36712049	976	6084										
FAM71A	149647	hgsc.bcm.edu	37	chr1	212798977	212798977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgactttaacaaacccactaAtgtgctcaatgcatccatcc	4	13	1	1	rs3122712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:212798977A>G	ENST00000294829.3	+	1	1189	c.758A>G	c.(757-759)aAt>aGt	p.N253S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	253			N -> S (in dbSNP:rs3122712).			nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAACCCACTAATGTGCTCAAT	0.542													A|||	1267	0.252995	0.4554	0.196	5008	,	,		21770	0.0804		0.2634	False		,,,				2504	0.1871				p.N253S		Atlas-SNP	.											.	FAM71A	87	.	0			c.A758G						PASS	.	A	SER/ASN	1918,2488	547.8+/-377.4	413,1092,698	104	112	109		758	-0.8	0	1	dbSNP_103	109	2509,6091	411.1+/-350.4	382,1745,2173	yes	missense	FAM71A	NM_153606.3	46	795,2837,2871	GG,GA,AA		29.1744,43.5315,34.0381	benign	253/595	212798977	4427,8579	2203	4300	6503	SO:0001583	missense	149647	exon1			CCACTAATGTGCT		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.758A>G	1.37:g.212798977A>G	ENSP00000294829:p.Asn253Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	569	0.26053113553113555	227	0.4613821138211382	87	0.24033149171270718	55	0.09615384615384616	200	0.2638522427440633	A	4.402	0.074306	0.08485	0.435315	0.291744	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03272	3.99	3.69	-0.822	0.10819	.	.	.	.	.	T	0.00012	0.0000	N	0.11427	0.14	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.38134	-0.9675	8	0.08837	T	0.75	1.1457	1.7677	0.03005	0.2223:0.3327:0.3224:0.1226	rs3122712;rs52808176;rs56594967;rs59779974;rs3122712	253	Q8IYT1	FA71A_HUMAN	S	253;28	ENSP00000294829:N253S	ENSP00000294829:N253S	N	+	2	0	FAM71A	210865600	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.003000	0.12901	-0.271000	0.09272	-0.290000	0.09829	AAT	A|0.697;G|0.303	0.303	strong		0.542	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		G	212798977	A	G	212798977	3	3	22	1	0	0	0	0	1	0	0	0	5607	101	4	2	760	2	FAM71A	1	212798977	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	260405	212798977	36451644	977	6085										
TATDN3	128387	hgsc.bcm.edu	37	chr1	212965284	212965284	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcgagcggctggcgtaggCttggtggactgtcactgcca	16	10	1	0	rs61736926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:212965284C>G	ENST00000366974.4	+	1	115	c.21C>G	c.(19-21)ggC>ggG	p.G7G	NSL1_ENST00000473995.1_5'Flank|NSL1_ENST00000366977.3_5'Flank|TATDN3_ENST00000366973.4_Silent_p.G7G|TATDN3_ENST00000526641.1_Silent_p.G7G|TATDN3_ENST00000526997.1_Silent_p.G7G|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000532324.1_Silent_p.G7G|NSL1_ENST00000366976.1_5'Flank|TATDN3_ENST00000530441.1_Silent_p.G7G|NSL1_ENST00000366975.6_5'Flank|TATDN3_ENST00000531963.1_Silent_p.G7G|NSL1_ENST00000422588.2_5'Flank	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	7					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CTGGCGTAGGCTTGGTGGACT	0.672													G|||	1141	0.227835	0.3986	0.1196	5008	,	,		12998	0.1538		0.1541	False		,,,				2504	0.226				p.G7G		Atlas-SNP	.											TATDN3,NS,carcinoma,0,1	TATDN3	23	1	0			c.C21G						scavenged	.	G	,,,,	1595,2809	626.1+/-394.7	296,1003,903	25	31	29		21,21,21,21,21	-3.6	0	1	dbSNP_129	29	1321,7279	727.2+/-406.6	101,1119,3080	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TATDN3	NM_001042552.2,NM_001042553.2,NM_001146169.1,NM_001146170.1,NM_001146171.1	,,,,	397,2122,3983	GG,GC,CC		15.3605,36.2171,22.4239	,,,,	7/275,7/274,7/241,7/254,7/282	212965284	2916,10088	2202	4300	6502	SO:0001819	synonymous_variant	128387	exon1			CGTAGGCTTGGTG	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.21C>G	1.37:g.212965284C>G		Somatic	172	4	0.0232558		WXS	Illumina HiSeq	Phase_I	201	115	0.572139	NM_001146170	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Silent	SNP	ENST00000366974.4	37	CCDS31019.1	469	0.21474358974358973	216	0.43902439024390244	48	0.13259668508287292	89	0.1555944055944056	116	0.15303430079155672	G	7.215	0.596217	0.13875	0.362171	0.153605	ENSG00000203705	ENST00000488246	.	.	.	5.24	-3.62	0.04543	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.52501	P	4.199999999998649E-5	.	.	.	.	.	.	T	0.42548	-0.9445	3	.	.	.	-9.0778	9.1104	0.36723	0.064:0.5664:0.1779:0.1917	rs61736926	.	.	.	V	7	.	.	L	+	1	0	TATDN3	211031907	0.029000	0.19370	0.004000	0.12327	0.043000	0.13939	-0.132000	0.10467	-0.757000	0.04697	-2.997000	0.00077	CTT	C|0.772;G|0.228	0.228	strong		0.672	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		G	212965284	C	G	212965284	2	3	22	1	0	0	0	0	0	0	0	1	15590	784	28	4		4	TATDN3	1	212965284	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166307	212965284	36285337	978	6086										
TATDN3	128387	hgsc.bcm.edu	37	chr1	212969889	212969889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcccttgtggcagttgccGaacattcaggagaatttgaa	12	8	1	2	rs55709122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:212969889G>A	ENST00000366974.4	+	3	224	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	TATDN3_ENST00000531963.1_Missense_Mutation_p.E44K|TATDN3_ENST00000526641.1_Missense_Mutation_p.E44K|TATDN3_ENST00000526997.1_Missense_Mutation_p.E44K|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.E44K|TATDN3_ENST00000530441.1_Missense_Mutation_p.E44K|TATDN3_ENST00000366973.4_Missense_Mutation_p.E44K	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	44					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GGCAGTTGCCGAACATTCAGG	0.289													G|||	8	0.00159744	0.0061	0.0	5008	,	,		13128	0.0		0.0	False		,,,				2504	0.0				p.E44K		Atlas-SNP	.											.	TATDN3	23	.	0			c.G130A						PASS	.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	43,4363	41.6+/-74.8	0,43,2160	38	41	40		130,130,130,130,130	5.8	1	1	dbSNP_129	40	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	TATDN3	NM_001042552.2,NM_001042553.2,NM_001146169.1,NM_001146170.1,NM_001146171.1	56,56,56,56,56	0,43,6460	AA,AG,GG		0.0,0.9759,0.3306	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	44/275,44/274,44/241,44/254,44/282	212969889	43,12963	2203	4300	6503	SO:0001583	missense	128387	exon3			GTTGCCGAACATT	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.130G>A	1.37:g.212969889G>A	ENSP00000355941:p.Glu44Lys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	99	52	0.525253	NM_001146170	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	CCDS31019.1	5|5	0.0022893772893772895|0.0022893772893772895	5|5	0.01016260162601626|0.01016260162601626	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	29.3|29.3	4.990408|4.990408	0.93106|0.93106	0.009759|0.009759	0.0|0.0	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000530441;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997;ENST00000530399|ENST00000488246	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.046199|.	0.85682|.	D|.	0.000000|.	T|T	0.69904|0.69904	0.3163|0.3163	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.995;0.996;0.995;0.989;0.992|.	P;P;P;P;P|.	0.61275|.	0.836;0.836;0.886;0.658;0.769|.	T|T	0.71938|0.71938	-0.4441|-0.4441	9|5	0.29301|.	T|.	0.29|.	-8.3766|-8.3766	18.7217|18.7217	0.91697|0.91697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs55709122|rs55709122	44;44;44;44;44|.	E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;TATD3_HUMAN|.	K|Q	44;44;44;44;44;44;44;43|43	.|.	ENSP00000355940:E44K|.	E|R	+|+	1|2	0|0	TATDN3|TATDN3	211036512|211036512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	4.428000|4.428000	0.59894|0.59894	2.731000|2.731000	0.93534|0.93534	0.555000|0.555000	0.69702|0.69702	GAA|CGA	G|0.997;A|0.003	0.003	strong		0.289	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		A	212969889	G	A	212969889	3	1	22	1	0	0	0	0	1	0	0	0	15590	1059	37	1	140	1	TATDN3	1	212969889	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4605	212969889	36280732	979	6087										
SMYD2	56950	hgsc.bcm.edu	37	chr1	214507580	214507580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actccctcaacgtggcctccAtgtggttgaagctagggaga	12	11	1	2	rs34259050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:214507580A>G	ENST00000366957.5	+	11	1172	c.1150A>G	c.(1150-1152)Atg>Gtg	p.M384V	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	384					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CGTGGCCTCCATGTGGTTGAA	0.542													A|||	54	0.0107827	0.0098	0.0115	5008	,	,		20709	0.001		0.0209	False		,,,				2504	0.0112				p.M384V		Atlas-SNP	.											.	SMYD2	40	.	0			c.A1150G						PASS	.	A	VAL/MET	31,4375	36.0+/-67.5	0,31,2172	241	230	234		1150	5.1	1	1	dbSNP_126	234	199,8401	87.1+/-149.5	2,195,4103	yes	missense	SMYD2	NM_020197.2	21	2,226,6275	GG,GA,AA		2.314,0.7036,1.7684	benign	384/434	214507580	230,12776	2203	4300	6503	SO:0001583	missense	56950	exon11			GCCTCCATGTGGT	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1150A>G	1.37:g.214507580A>G	ENSP00000355924:p.Met384Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	179	86	0.480447	NM_020197	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	CCDS31022.1	22	0.010073260073260074	4	0.008130081300813009	5	0.013812154696132596	1	0.0017482517482517483	12	0.0158311345646438	A	14.03	2.413182	0.42817	0.007036	0.02314	ENSG00000143499	ENST00000366957	T	0.61392	0.11	6.17	5.05	0.67936	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.48362	1.52	0.80722	D	1	B	0.26512	0.151	B	0.17979	0.02	T	0.21143	-1.0254	10	0.14656	T	0.56	-5.5028	12.297	0.54854	0.9345:0.0:0.0655:0.0	rs34259050	384	Q9NRG4	SMYD2_HUMAN	V	384	ENSP00000355924:M384V	ENSP00000355924:M384V	M	+	1	0	SMYD2	212574203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.874000	0.48483	1.158000	0.42547	0.533000	0.62120	ATG	A|0.983;G|0.017	0.017	strong		0.542	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		G	214507580	A	G	214507580	3	3	22	1	0	0	0	0	1	0	0	0	14822	217	8	2	1192	2	SMYD2	1	214507580	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1537691	214507580	34743041	980	6088										
CENPF	1063	hgsc.bcm.edu	37	chr1	214787130	214787130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggaagaatggaaagaaggGctgcctacaagagctcttca	12	7	2	3	rs2070064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:214787130G>A	ENST00000366955.3	+	2	201	c.33G>A	c.(31-33)ggG>ggA	p.G11G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAAAGAAGGGCTGCCTACAA	0.413													C|||	1183	0.236222	0.0522	0.3156	5008	,	,		14102	0.121		0.499	False		,,,				2504	0.2771				p.G11G	Colon(80;575 1284 11000 14801 43496)	Atlas-SNP	.											CENPF,NS,carcinoma,0,1	CENPF	321	1	0			c.G33A						PASS	.	C		525,3881		42,441,1720	75	82	80		33	3.1	1	1	dbSNP_96	80	4450,4150		1142,2166,992	no	coding-synonymous	CENPF	NM_016343.3		1184,2607,2712	AA,AG,GG		48.2558,11.9156,38.2516		11/3115	214787130	4975,8031	2203	4300	6503	SO:0001819	synonymous_variant	1063	exon2			AGAAGGGCTGCCT	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.33G>A	1.37:g.214787130G>A		Somatic	270	1	0.0037037		WXS	Illumina HiSeq	Phase_I	191	89	0.465969	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			G|0.653;A|0.345	0.345	strong		0.413	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214787130	G	A	214787130	2	1	22	1	0	0	0	0	0	0	0	1	3231	1190	42	2		2	CENPF	1	214787130	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	279550	214787130	34463491	981	6089										
CENPF	1063	hgsc.bcm.edu	37	chr1	214814571	214814571	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgagttccatcatttctCtaaataaaagggaaattgaa	6	5	2	2	rs3795521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:214814571C>T	ENST00000366955.3	+	12	3058	c.2890C>T	c.(2890-2892)Cta>Tta	p.L964L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATCATTTCTCTAAATAAAAG	0.358													C|||	1197	0.239018	0.0522	0.317	5008	,	,		18098	0.122		0.499	False		,,,				2504	0.2894				p.L964L	Colon(80;575 1284 11000 14801 43496)	Atlas-SNP	.											CENPF,NS,carcinoma,0,2	CENPF	321	2	0			c.C2890T						PASS	.	C		506,3842		51,404,1719	50	56	54		2890	2.2	0	1	dbSNP_107	54	4412,4166		1141,2130,1018	no	coding-synonymous	CENPF	NM_016343.3		1192,2534,2737	TT,TC,CC		48.5661,11.6375,38.0473		964/3115	214814571	4918,8008	2174	4289	6463	SO:0001819	synonymous_variant	1063	exon12			ATTTCTCTAAATA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2890C>T	1.37:g.214814571C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	81	30	0.37037	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			C|0.681;T|0.319	0.319	strong		0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214814571	C	T	214814571	2	4	22	1	0	0	0	0	0	0	0	1	3231	912	32	2		2	CENPF	1	214814571	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27441	214814571	34436050	982	6090										
CENPF	1063	hgsc.bcm.edu	37	chr1	214820099	214820099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctataaggtcagaaaaagaaAatctgacaaatgaattacaa	6	5	2	4	rs3748697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:214820099A>G	ENST00000366955.3	+	13	7354	c.7186A>G	c.(7186-7188)Aat>Gat	p.N2396D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2492	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAAAAGAAAATCTGACAAA	0.323													A|||	1177	0.235024	0.0522	0.3127	5008	,	,		19895	0.122		0.4831	False		,,,				2504	0.2883				p.N2396D	Colon(80;575 1284 11000 14801 43496)	Atlas-SNP	.											CENPF,NS,carcinoma,0,1	CENPF	321	1	0			c.A7186G						PASS	.	A	ASP/ASN	521,3881		44,433,1724	32	37	35		7186	4	0.2	1	dbSNP_107	35	4376,4224		1112,2152,1036	yes	missense	CENPF	NM_016343.3	23	1156,2585,2760	GG,GA,AA		49.1163,11.8355,37.6634	benign	2396/3115	214820099	4897,8105	2201	4300	6501	SO:0001583	missense	1063	exon13			AAAGAAAATCTGA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7186A>G	1.37:g.214820099A>G	ENSP00000355922:p.Asn2396Asp	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	583	0.26694139194139194	34	0.06910569105691057	128	0.35359116022099446	63	0.11013986013986014	358	0.47229551451187335	A	3.995	-0.003637	0.07773	0.118355	0.508837	ENSG00000117724	ENST00000366955	T	0.42900	0.96	5.09	3.97	0.46021	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.178649	0.27008	N	0.021399	T	0.00012	0.0000	L	0.48642	1.525	0.37429	P	0.08606100000000005	B	0.15473	0.013	B	0.17433	0.018	T	0.46816	-0.9164	9	0.10902	T	0.67	.	5.1495	0.15002	0.7373:0.0:0.0925:0.1701	rs3748697;rs17737483;rs52804761;rs61185773;rs3748697	2492	P49454	CENPF_HUMAN	D	2396	ENSP00000355922:N2396D	ENSP00000355922:N2396D	N	+	1	0	CENPF	212886722	0.000000	0.05858	0.203000	0.23512	0.176000	0.22953	0.342000	0.19926	0.969000	0.38237	0.496000	0.49642	AAT	A|0.689;G|0.311	0.311	strong		0.323	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214820099	A	G	214820099	3	3	22	1	0	0	0	0	1	0	0	0	3231	14	1	2	7232	2	CENPF	1	214820099	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5528	214820099	34430522	983	6091										
KCNK2	3776	hgsc.bcm.edu	37	chr1	215342573	215342573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcaccacgcacagaaggCggcaaaatattctgtatcat	7	11	3	1	rs17024342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:215342573C>T	ENST00000444842.2	+	4	657	c.507C>T	c.(505-507)ggC>ggT	p.G169G	KCNK2_ENST00000391894.2_Silent_p.G154G|KCNK2_ENST00000391895.2_Silent_p.G165G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	169					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GCACAGAAGGCGGCAAAATAT	0.363													C|||	686	0.136981	0.4107	0.0504	5008	,	,		13682	0.004		0.0467	False		,,,				2504	0.0583				p.G169G		Atlas-SNP	.											.	KCNK2	135	.	0			c.C507T						PASS	.	C	,,	1433,2973	464.5+/-353.9	258,917,1028	150	154	153		495,507,462	-10.4	0.3	1	dbSNP_123	153	351,8249	117.7+/-177.3	3,345,3952	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK2	NM_001017424.2,NM_001017425.2,NM_014217.3	,,	261,1262,4980	TT,TC,CC		4.0814,32.5238,13.7167	,,	165/423,169/427,154/412	215342573	1784,11222	2203	4300	6503	SO:0001819	synonymous_variant	3776	exon4			AGAAGGCGGCAAA	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.507C>T	1.37:g.215342573C>T		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	217	95	0.437788	NM_001017425	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	CCDS41467.1	268	0.1227106227106227	206	0.4186991869918699	20	0.055248618784530384	2	0.0034965034965034965	40	0.052770448548812667	C	4.793	0.147440	0.09134	0.325238	0.040814	ENSG00000082482	ENST00000366948	.	.	.	6.16	-10.4	0.00318	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999838	.	.	.	.	.	.	T	0.31806	-0.9930	4	0.35671	T	0.21	.	4.9176	0.13853	0.249:0.0687:0.0939:0.5884	rs17024342;rs17024342	.	.	.	V	126	.	ENSP00000355915:A126V	A	+	2	0	KCNK2	213409196	0.176000	0.23096	0.271000	0.24616	0.932000	0.56968	-0.545000	0.06069	-1.555000	0.01697	-0.759000	0.03464	GCG	C|0.859;T|0.141	0.141	strong		0.363	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		T	215342573	C	T	215342573	2	4	22	1	0	0	0	0	0	0	0	1	8066	755	27	1		1	KCNK2	1	215342573	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	522474	215342573	33908048	984	6092										
USH2A	7399	hgsc.bcm.edu	37	chr1	215960167	215960167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcacacctgccacaatgtTctgtggcttccatagatgct	8	12	2	1	rs10864198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:215960167T>G	ENST00000307340.3	-	52	10618	c.10232A>C	c.(10231-10233)gAa>gCa	p.E3411A	USH2A_ENST00000366943.2_Missense_Mutation_p.E3411A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3411	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> A (in dbSNP:rs10864198). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCACAATGTTCTGTGGCTTC	0.458										HNSCC(13;0.011)			G|||	2948	0.588658	0.7057	0.4899	5008	,	,		17203	0.6518		0.5358	False		,,,				2504	0.4898				p.E3411A		Atlas-SNP	.											.	USH2A	1168	.	0			c.A10232C						PASS	.	G	ALA/GLU	2959,1447	468.1+/-355.0	1004,951,248	64	60	61		10232	4.9	0.2	1	dbSNP_120	61	4462,4138	563.2+/-388.1	1153,2156,991	yes	missense	USH2A	NM_206933.2	107	2157,3107,1239	GG,GT,TT		48.1163,32.8416,42.9417	benign	3411/5203	215960167	7421,5585	2203	4300	6503	SO:0001583	missense	7399	exon52			CAATGTTCTGTGG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10232A>C	1.37:g.215960167T>G	ENSP00000305941:p.Glu3411Ala	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	1313	0.6011904761904762	346	0.7032520325203252	182	0.5027624309392266	383	0.6695804195804196	402	0.5303430079155673	G	0.015	-1.570097	0.00895	0.671584	0.518837	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.07327	3.21;3.2	4.88	4.88	0.63580	Fibronectin, type III (3);	0.000000	0.44688	N	0.000427	T	0.00012	0.0000	N	0.00077	-2.24	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	9	0.02654	T	1	.	13.0708	0.59059	0.0:0.0:0.8389:0.1611	rs10864198;rs52802661;rs59777001;rs10864198	3411	O75445	USH2A_HUMAN	A	3411	ENSP00000305941:E3411A;ENSP00000355910:E3411A	ENSP00000305941:E3411A	E	-	2	0	USH2A	214026790	0.996000	0.38824	0.163000	0.22734	0.037000	0.13140	2.598000	0.46223	1.040000	0.40099	-0.121000	0.15023	GAA	T|0.409;G|0.591	0.591	strong		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215960167	T	G	215960167	3	3	22	1	0	0	0	0	1	0	0	0	17033	1783	62	5	5460	5	USH2A	1	215960167	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	617594	215960167	33290454	985	6093										
USH2A	7399	hgsc.bcm.edu	37	chr1	216258194	216258194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgtacatccttgagacaGcccacaaaacctttttggat	6	10	0	1	rs56110889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:216258194G>T	ENST00000307340.3	-	25	5399	c.5013C>A	c.(5011-5013)ggC>ggA	p.G1671G	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.G1671G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1671	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTGAGACAGCCCACAAAAC	0.328										HNSCC(13;0.011)			G|||	530	0.105831	0.1906	0.0951	5008	,	,		17135	0.0		0.163	False		,,,				2504	0.0491				p.G1671G		Atlas-SNP	.											.	USH2A	1168	.	0			c.C5013A						PASS	.	G		844,3562	331.2+/-301.9	100,644,1459	83	85	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5013	2.9	1	1	dbSNP_129	85	1481,7119	280.2+/-294.4	139,1203,2958	no	coding-synonymous	USH2A	NM_206933.2		239,1847,4417	TT,TG,GG		17.2209,19.1557,17.8764		1671/5203	216258194	2325,10681	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon25			GAGACAGCCCACA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5013C>A	1.37:g.216258194G>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			G|0.844;T|0.156	0.156	strong		0.328	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216258194	G	T	216258194	2	4	22	1	0	0	0	0	0	0	0	1	17033	958	34	4		4	USH2A	1	216258194	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	298027	216258194	32992427	986	6094										
USH2A	7399	hgsc.bcm.edu	37	chr1	216424275	216424275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttgcacttgcactggcCtgaattttggtgacaggtaa	11	8	0	2	rs696723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:216424275C>G	ENST00000307340.3	-	12	2523	c.2137G>C	c.(2137-2139)Ggc>Cgc	p.G713R	USH2A_ENST00000366943.2_Missense_Mutation_p.G713R|USH2A_ENST00000366942.3_Missense_Mutation_p.G713R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	713	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.		G -> R (in USH2A; abolishes interaction with collagen IV; unknown pathological significance; dbSNP:rs696723). {ECO:0000269|PubMed:10909849, ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGCACTGGCCTGAATTTTGG	0.408										HNSCC(13;0.011)			C|||	299	0.0597045	0.1936	0.0144	5008	,	,		17962	0.0		0.0109	False		,,,				2504	0.0225				p.G713R		Atlas-SNP	.											.	USH2A	1168	.	0			c.G2137C	GRCh37	CM001809	USH2A	M	rs696723	PASS	.	C	ARG/GLY,ARG/GLY	768,3638	311.9+/-292.3	79,610,1514	146	133	137	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2137,2137	4.2	1	1	dbSNP_86	137	97,8503	53.1+/-113.8	0,97,4203	yes	missense,missense	USH2A	NM_007123.5,NM_206933.2	125,125	79,707,5717	GG,GC,CC		1.1279,17.4308,6.6508	probably-damaging,probably-damaging	713/1547,713/5203	216424275	865,12141	2203	4300	6503	SO:0001583	missense	7399	exon12			ACTGGCCTGAATT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2137G>C	1.37:g.216424275C>G	ENSP00000305941:p.Gly713Arg	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	207	95	0.458937	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	95	0.043498168498168496	84	0.17073170731707318	6	0.016574585635359115	0	0.0	5	0.006596306068601583	C	17.95	3.514960	0.64634	0.174308	0.011279	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.75821	-0.97;-0.97;-0.97	5.26	4.2	0.49525	EGF-like, laminin (3);	0.000000	0.44902	D	0.000419	T	0.01661	0.0053	M	0.94021	3.485	0.09310	P	0.999999192511	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.51880	-0.8649	9	0.72032	D	0.01	.	11.5314	0.50612	0.0:0.8931:0.0:0.1069	rs696723;rs9442163;rs17026444;rs52831353;rs696723	713;713	O75445-2;O75445	.;USH2A_HUMAN	R	713	ENSP00000305941:G713R;ENSP00000355910:G713R;ENSP00000355909:G713R	ENSP00000305941:G713R	G	-	1	0	USH2A	214490898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.442000	0.66575	0.969000	0.38237	0.655000	0.94253	GGC	C|0.942;G|0.058	0.058	strong		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216424275	C	G	216424275	3	3	22	1	0	0	0	0	1	0	0	0	17033	681	24	4	13729	4	USH2A	1	216424275	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166081	216424275	32826346	987	6095										
GPATCH2	55105	hgsc.bcm.edu	37	chr1	217793718	217793718	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccttgcctggcgtttcagAgggcaagatatacttcgaga	11	9	1	3	rs34839777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:217793718A>G	ENST00000366935.3	-	2	290	c.180T>C	c.(178-180)ccT>ccC	p.P60P	GPATCH2_ENST00000366934.3_Silent_p.P60P	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	60					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GGCGTTTCAGAGGGCAAGATA	0.498													A|||	38	0.00758786	0.0265	0.0043	5008	,	,		17711	0.0		0.0	False		,,,				2504	0.0				p.P60P		Atlas-SNP	.											.	GPATCH2	53	.	0			c.T180C						PASS	.	A		114,4292	85.3+/-124.0	3,108,2092	136	123	128		180	-4	1	1	dbSNP_126	128	0,8600		0,0,4300	no	coding-synonymous	GPATCH2	NM_018040.2		3,108,6392	GG,GA,AA		0.0,2.5874,0.8765		60/529	217793718	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	55105	exon2			TTTCAGAGGGCAA	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.180T>C	1.37:g.217793718A>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	CCDS1518.1																																																																																			A|0.990;G|0.010	0.010	strong		0.498	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		G	217793718	A	G	217793718	2	3	22	1	0	0	0	0	0	0	0	1	6591	291	11	3		3	GPATCH2	1	217793718	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1369443	217793718	31456903	988	6096										
SPATA17	128153	hgsc.bcm.edu	37	chr1	217824488	217824488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatggtggagaagtttcTtaggcagaaagcaatatcaa	10	4	2	2	rs143446051		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:217824488T>C	ENST00000366933.4	+	3	263	c.208T>C	c.(208-210)Tta>Cta	p.L70L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	70	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GAGAAGTTTCTTAGGCAGAAA	0.299													T|||	1	0.000199681	0.0	0.0	5008	,	,		18465	0.0		0.001	False		,,,				2504	0.0				p.L70L		Atlas-SNP	.											.	SPATA17	59	.	0			c.T208C						PASS	.	T		1,4405	2.1+/-5.4	0,1,2202	84	94	91		208	2.5	1	1	dbSNP_134	91	15,8569	10.5+/-38.8	0,15,4277	no	coding-synonymous	SPATA17	NM_138796.2		0,16,6479	CC,CT,TT		0.1747,0.0227,0.1232		70/362	217824488	16,12974	2203	4292	6495	SO:0001819	synonymous_variant	128153	exon3			AGTTTCTTAGGCA	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.208T>C	1.37:g.217824488T>C		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	217	104	0.479263	NM_138796	A5D6N2	Silent	SNP	ENST00000366933.4	37	CCDS1519.1																																																																																			T|0.998;C|0.002	0.002	strong		0.299	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		C	217824488	T	C	217824488	2	2	22	1	0	0	0	0	0	0	0	1	15001	1606	56	3		3	SPATA17	1	217824488	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30770	217824488	31426133	989	6097										
EPRS	2058	hgsc.bcm.edu	37	chr1	220154768	220154768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggcaggtctctgtgtgaCtgtacccattttgcatatgc	11	9	1	1	rs1061160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:220154768C>T	ENST00000366923.3	-	24	3674	c.3405G>A	c.(3403-3405)caG>caA	p.Q1135Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1135	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTCTGTGTGACTGTACCCATT	0.388													C|||	1773	0.354034	0.3986	0.4294	5008	,	,		13799	0.3423		0.3101	False		,,,				2504	0.2975				p.Q1135Q		Atlas-SNP	.											.	EPRS	140	.	0			c.G3405A						PASS	.	C		1649,2757	504.9+/-366.0	329,991,883	143	127	133		3405	4.1	1	1	dbSNP_86	133	2938,5662	457.3+/-364.3	523,1892,1885	no	coding-synonymous	EPRS	NM_004446.2		852,2883,2768	TT,TC,CC		34.1628,37.4262,35.2683		1135/1513	220154768	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	2058	exon24			GTGTGACTGTACC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3405G>A	1.37:g.220154768C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	104	48	0.461538	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																			C|0.645;T|0.355	0.355	strong		0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		T	220154768	C	T	220154768	2	4	22	1	0	0	0	0	0	0	0	1	5191	564	20	2		2	EPRS	1	220154768	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2330280	220154768	29095853	990	6098										
HLX	3142	hgsc.bcm.edu	37	chr1	221057662	221057662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccggctgcggatggcgaGcaggacgagaggagccccag	18	13	0	1	rs3738182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:221057662G>A	ENST00000366903.6	+	4	2584	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	HLX_ENST00000549319.1_Silent_p.E147E	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	361					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGGATGGCGAGCAGGACGAGA	0.667													G|||	936	0.186901	0.2572	0.1801	5008	,	,		11857	0.0942		0.1779	False		,,,				2504	0.2014				p.E361E		Atlas-SNP	.											.	HLX	67	.	0			c.G1083A						PASS	.	G		1007,3399	342.5+/-307.2	124,759,1320	34	35	35		1083	-2.2	0	1	dbSNP_107	35	1707,6893	294.6+/-302.0	151,1405,2744	no	coding-synonymous	HLX	NM_021958.3		275,2164,4064	AA,AG,GG		19.8488,22.8552,20.8673		361/489	221057662	2714,10292	2203	4300	6503	SO:0001819	synonymous_variant	3142	exon4			TGGCGAGCAGGAC	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1083G>A	1.37:g.221057662G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	186	91	0.489247	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	CCDS1527.1																																																																																			G|0.810;A|0.190	0.190	strong		0.667	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		A	221057662	G	A	221057662	2	1	22	1	0	0	0	0	0	0	0	1	7216	962	34	2		2	HLX	1	221057662	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	902894	221057662	28192959	991	6099										
HHIPL2	79802	hgsc.bcm.edu	37	chr1	222721288	222721288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcaagcccacctggccCaacaagaatatgaggcagag	11	12	0	3	rs4846382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:222721288C>T	ENST00000343410.6	-	1	157	c.99G>A	c.(97-99)ttG>ttA	p.L33L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	33					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACCTGGCCCAACAAGAATA	0.577													C|||	2914	0.581869	0.3124	0.7205	5008	,	,		16120	0.6379		0.6044	False		,,,				2504	0.7669				p.L33L		Atlas-SNP	.											.	HHIPL2	122	.	0			c.G99A						PASS	.	C		1464,2374		291,882,746	38	44	42		99	1.5	0.4	1	dbSNP_111	42	5085,3161		1574,1937,612	no	coding-synonymous	HHIPL2	NM_024746.3		1865,2819,1358	TT,TC,CC		38.3337,38.1449,45.8044		33/725	222721288	6549,5535	1919	4123	6042	SO:0001819	synonymous_variant	79802	exon1			CTGGCCCAACAAG	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.99G>A	1.37:g.222721288C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	154	77	0.5	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																			C|0.444;T|0.556	0.556	strong		0.577	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222721288	C	T	222721288	2	4	22	1	0	0	0	0	0	0	0	1	7094	593	21	2		2	HHIPL2	1	222721288	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1663626	222721288	26529333	992	6100										
TAF1A	9015	hgsc.bcm.edu	37	chr1	222734803	222734803	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaagtagctgaaatgaaaGcctggccaccagtttttcct	8	10	0	2	rs1134898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:222734803G>C	ENST00000352967.4	-	10	1331	c.1143C>G	c.(1141-1143)ggC>ggG	p.G381G	TAF1A_ENST00000391882.1_Silent_p.G267G|TAF1A_ENST00000350027.4_Silent_p.G381G|TAF1A_ENST00000366890.1_Silent_p.G267G	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	381					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TGAAATGAAAGCCTGGCCACC	0.433													G|||	1565	0.3125	0.0234	0.353	5008	,	,		19439	0.3671		0.5119	False		,,,				2504	0.4131				p.G381G		Atlas-SNP	.											.	TAF1A	35	.	0			c.C1143G						PASS	.	G	,,	458,3948	216.1+/-234.9	29,400,1774	84	85	85		1143,1143,801	1.5	0.5	1	dbSNP_86	85	4170,4430	566.0+/-388.6	1027,2116,1157	no	coding-synonymous,coding-synonymous,coding-synonymous	TAF1A	NM_001201536.1,NM_005681.3,NM_139352.2	,,	1056,2516,2931	CC,CG,GG		48.4884,10.3949,35.5836	,,	381/451,381/451,267/337	222734803	4628,8378	2203	4300	6503	SO:0001819	synonymous_variant	9015	exon10			ATGAAAGCCTGGC	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1143C>G	1.37:g.222734803G>C		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	200	94	0.47	NM_001201536	B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	ENST00000352967.4	37	CCDS1531.1																																																																																			G|0.637;C|0.363	0.363	strong		0.433	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		C	222734803	G	C	222734803	2	2	22	1	0	0	0	0	0	0	0	1	15516	958	34	4		4	TAF1A	1	222734803	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13515	222734803	26515818	993	6101										
MIA3	375056	hgsc.bcm.edu	37	chr1	222825568	222825568	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taataggagtgttttgcattAggttcagattgcacttaatg	10	4	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:222825568A>G	ENST00000344922.5	+	13	4006		c.e13-1		MIA3_ENST00000340535.7_Splice_Site|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Splice_Site	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.?(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTTTTGCATTAGGTTCAGATT	0.338																																					.		Atlas-SNP	.											MIA3,NS,carcinoma,0,1	MIA3	167	1	1	Unknown(1)	endometrium(1)	c.3982-2A>G						scavenged	.						129	124	126					1																	222825568		1845	4083	5928	SO:0001630	splice_region_variant	375056	exon13			TGCATTAGGTTCA		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3982-1A>G	1.37:g.222825568A>G		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	180	3	0.0166667	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121351	0.77436	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2829	0.82707	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIA3	220892191	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.113000	0.71553	2.248000	0.74166	0.533000	0.62120	.	.	.	none		0.338	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	Intron	G	222825568	A	G	222825568	5	3	22	1	0	0	0	0	0	0	1	0	9565	434	15	3	4030	3	MIA3	1	222825568	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	90765	222825568	26425053	994	6102										
DISP1	84976	hgsc.bcm.edu	37	chr1	223178226	223178226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccttgtctacaagtcccAgtgacaagggacaaagcaaa	9	10	1	1	rs61743732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:223178226A>G	ENST00000284476.6	+	8	3651	c.3487A>G	c.(3487-3489)Agt>Ggt	p.S1163G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1163					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)		TACAAGTCCCAGTGACAAGGG	0.453													A|||	129	0.0257588	0.093	0.0058	5008	,	,		23051	0.0		0.002	False		,,,				2504	0.0				p.S1163G		Atlas-SNP	.											.	DISP1	145	.	0			c.A3487G						PASS	.	A	GLY/SER	372,4034	188.8+/-215.1	12,348,1843	85	89	88		3487	1.6	0	1	dbSNP_129	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DISP1	NM_032890.3	56	12,351,6140	GG,GA,AA		0.0349,8.443,2.8833	benign	1163/1525	223178226	375,12631	2203	4300	6503	SO:0001583	missense	84976	exon10			AGTCCCAGTGACA	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.3487A>G	1.37:g.223178226A>G	ENSP00000284476:p.Ser1163Gly	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	28	12	0.428571	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	56	0.02564102564102564	53	0.10772357723577236	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	0.004	-2.279509	0.00254	0.08443	3.49E-4	ENSG00000154309	ENST00000284476	D	0.91351	-2.83	5.66	1.56	0.23342	.	0.630262	0.17522	N	0.171240	T	0.03477	0.0100	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.05436	T	0.98	-4.8804	7.9026	0.29744	0.1384:0.2477:0.6138:0.0	rs61743732	1163	Q96F81	DISP1_HUMAN	G	1163	ENSP00000284476:S1163G	ENSP00000284476:S1163G	S	+	1	0	DISP1	221244849	0.084000	0.21492	0.004000	0.12327	0.204000	0.24138	2.705000	0.47127	0.030000	0.15379	-0.415000	0.06103	AGT	A|0.971;G|0.029	0.029	strong		0.453	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		G	223178226	A	G	223178226	3	3	22	1	0	0	0	0	1	0	0	0	4539	188	7	3	3513	3	DISP1	1	223178226	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	352658	223178226	26072395	995	6103										
TLR5	7100	hgsc.bcm.edu	37	chr1	223284528	223284528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagggaaaccccagagaAcgagtcagggtacacacaat	12	9	1	2	rs5744174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:223284528A>G	ENST00000540964.1	-	4	2307	c.1846T>C	c.(1846-1848)Ttc>Ctc	p.F616L	TLR5_ENST00000342210.6_Missense_Mutation_p.F616L			O60602	TLR5_HUMAN	toll-like receptor 5	616	LRRCT.		F -> L (in dbSNP:rs5744174). {ECO:0000269|PubMed:14623910, ECO:0000269|PubMed:16027372, ECO:0000269|PubMed:9596645}.|Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ACCCCAGAGAACGAGTCAGGG	0.433													G|||	1454	0.290335	0.1089	0.3487	5008	,	,		20738	0.1984		0.4095	False		,,,				2504	0.4663				p.F616L		Atlas-SNP	.											.	TLR5	86	.	0			c.T1846C						PASS	.	G	LEU/PHE	742,3664	756.3+/-412.6	61,620,1522	89	91	90		1846	-11.2	0	1	dbSNP_114	90	3610,4990	625.1+/-397.7	738,2134,1428	yes	missense	TLR5	NM_003268.5	22	799,2754,2950	GG,GA,AA		41.9767,16.8407,33.4615	benign	616/859	223284528	4352,8654	2203	4300	6503	SO:0001583	missense	7100	exon6			CAGAGAACGAGTC		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1846T>C	1.37:g.223284528A>G	ENSP00000440643:p.Phe616Leu	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	168	70	0.416667	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	604	0.2765567765567766	69	0.1402439024390244	124	0.3425414364640884	104	0.18181818181818182	307	0.4050131926121372	G	0.008	-1.889258	0.00527	0.168407	0.419767	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.17213	2.29;2.29;2.29	5.59	-11.2	0.00127	Cysteine-rich flanking region, C-terminal (1);	0.464610	0.24633	N	0.036880	T	0.00012	0.0000	N	0.01003	-1.06	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	9	0.02654	T	1	.	12.7011	0.57034	0.5768:0.2038:0.2194:0.0	rs5744174;rs17748224;rs5744174	616	O60602	TLR5_HUMAN	L	616	ENSP00000440643:F616L;ENSP00000355846:F616L;ENSP00000340089:F616L	ENSP00000340089:F616L	F	-	1	0	TLR5	221351151	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.885000	0.04161	-3.660000	0.00125	-1.702000	0.00720	TTC	A|0.691;G|0.309	0.309	strong		0.433	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		G	223284528	A	G	223284528	3	3	22	1	0	0	0	0	1	0	0	0	15951	43	2	2	734	2	TLR5	1	223284528	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	106302	223284528	25966093	996	6104										
TLR5	7100	hgsc.bcm.edu	37	chr1	223285042	223285042	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagatgaggtacccgtagGagaaagtagagaatatctag	14	4	1	4	rs5744169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:223285042G>A	ENST00000540964.1	-	4	1793	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	TLR5_ENST00000342210.6_Silent_p.L444L			O60602	TLR5_HUMAN	toll-like receptor 5	444			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTACCCGTAGGAGAAAGTAGA	0.418													G|||	101	0.0201677	0.0734	0.0029	5008	,	,		19084	0.0		0.002	False		,,,				2504	0.0				p.L444L		Atlas-SNP	.											.	TLR5	86	.	0			c.C1332T						PASS	.	G		315,4091	163.3+/-195.1	11,293,1899	82	85	84		1332	-2.9	0.9	1	dbSNP_114	84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TLR5	NM_003268.5		11,296,6196	AA,AG,GG		0.0349,7.1493,2.445		444/859	223285042	318,12688	2203	4300	6503	SO:0001819	synonymous_variant	7100	exon6			CCGTAGGAGAAAG		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1332C>T	1.37:g.223285042G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	143	63	0.440559	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1																																																																																			G|0.976;A|0.024	0.024	strong		0.418	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223285042	G	A	223285042	2	1	22	1	0	0	0	0	0	0	0	1	15951	1161	41	2		2	TLR5	1	223285042	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	514	223285042	25965579	997	6105										
TP53BP2	7159	hgsc.bcm.edu	37	chr1	223984072	223984072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttcgtaaggcttctagGtcagcatcactctggtttcg	9	10	5	0	rs141654811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:223984072G>A	ENST00000343537.7	-	13	2460	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	TP53BP2_ENST00000391878.2_Silent_p.D594D|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	717					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGGCTTCTAGGTCAGCATCAC	0.438																																					p.D723D		Atlas-SNP	.											.	TP53BP2	144	.	0			c.C2169T						PASS	.	G	,	0,4406		0,0,2203	142	137	139		2169,1782	2.8	0.8	1	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TP53BP2	NM_001031685.2,NM_005426.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	723/1135,594/1006	223984072	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7159	exon13			TTCTAGGTCAGCA	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2169C>T	1.37:g.223984072G>A		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	247	112	0.453441	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																			G|1.000;A|0.000	0.000	strong		0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		A	223984072	G	A	223984072	2	1	22	1	0	0	0	0	0	0	0	1	16381	1252	44	2		2	TP53BP2	1	223984072	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	699030	223984072	25266549	998	6106										
WDR26	80232	hgsc.bcm.edu	37	chr1	224607296	224607296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttttgcacgtaggtcttcTgcatggctacacatcagata	9	10	3	1	rs142827296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:224607296T>C	ENST00000414423.2	-	5	979	c.786A>G	c.(784-786)gcA>gcG	p.A262A	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.A115A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	262						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTAGGTCTTCTGCATGGCTAC	0.353													T|||	6	0.00119808	0.0038	0.0	5008	,	,		17617	0.001		0.0	False		,,,				2504	0.0				p.A262A		Atlas-SNP	.											WDR26_ENST00000414423,NS,carcinoma,0,2	WDR26	104	2	0			c.A786G						PASS	.	T	,	8,4398	14.3+/-33.2	0,8,2195	126	112	117		738,786	-1	1	1	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WDR26	NM_001115113.2,NM_025160.6	,	0,8,6495	CC,CT,TT		0.0,0.1816,0.0615	,	246/646,262/662	224607296	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	80232	exon5			GTCTTCTGCATGG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.786A>G	1.37:g.224607296T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	37	CCDS31037.2																																																																																			T|0.999;C|0.001	0.001	strong		0.353	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		C	224607296	T	C	224607296	2	2	22	1	0	0	0	0	0	0	0	1	17280	1567	55	3		3	WDR26	1	224607296	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	623224	224607296	24643325	999	6107										
EPHX1	2052	hgsc.bcm.edu	37	chr1	226026406	226026406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccagctgcccgcaggccAtaccccgaagcccttgctga	9	20	0	1	rs2234922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226026406A>G	ENST00000366837.4	+	4	612	c.416A>G	c.(415-417)cAt>cGt	p.H139R	EPHX1_ENST00000272167.5_Missense_Mutation_p.H139R|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	139			H -> R (in allele EPHX1*4; 62% of wild type enzyme activity; dbSNP:rs2234922). {ECO:0000269|PubMed:11058921, ECO:0000269|PubMed:12173035, ECO:0000269|PubMed:7516776, ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCCGCAGGCCATACCCCGAAG	0.607													G|||	1079	0.215455	0.3533	0.1427	5008	,	,		16264	0.1181		0.164	False		,,,				2504	0.2342				p.H139R		Atlas-SNP	.											.	EPHX1	57	.	0			c.A416G	GRCh37	CM024366	EPHX1	M	rs2234922	PASS	.	G	ARG/HIS,ARG/HIS	1484,2922	677.4+/-403.4	250,984,969	88	97	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	416,416	2.5	0	1	dbSNP_98	94	1763,6837	734.5+/-406.9	191,1381,2728	yes	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	29,29	441,2365,3697	GG,GA,AA		20.5,33.6813,24.9654	benign,benign	139/456,139/456	226026406	3247,9759	2203	4300	6503	SO:0001583	missense	2052	exon4			CAGGCCATACCCC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.416A>G	1.37:g.226026406A>G	ENSP00000355802:p.His139Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	114	65	0.570175	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	404	0.184981684981685	165	0.3353658536585366	50	0.13812154696132597	62	0.10839160839160839	127	0.16754617414248021	G	0.008	-1.918526	0.00498	0.336813	0.205	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000366837	T;T;T	0.03524	3.9;3.9;3.9	5.83	2.55	0.30701	Epoxide hydrolase, N-terminal (1);	0.550791	0.21311	N	0.076624	T	0.00012	0.0000	N	0.00841	-1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40478	-0.9561	9	0.12430	T	0.62	-11.8523	7.654	0.28365	0.5145:0.0:0.4855:0.0	rs2234922;rs59975602;rs2234922	139	P07099	HYEP_HUMAN	R	139	ENSP00000398491:H139R;ENSP00000272167:H139R;ENSP00000355802:H139R	ENSP00000272167:H139R	H	+	2	0	EPHX1	224093029	0.002000	0.14202	0.004000	0.12327	0.035000	0.12851	0.819000	0.27308	0.379000	0.24794	-0.227000	0.12334	CAT	A|0.779;G|0.221	0.221	strong		0.607	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		G	226026406	A	G	226026406	3	3	22	1	0	0	0	0	1	0	0	0	5179	217	8	2	426	2	EPHX1	1	226026406	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1419110	226026406	23224215	1000	6108										
EPHX1	2052	hgsc.bcm.edu	37	chr1	226032896	226032896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccttcccttttgagctaTtgcacacgcctgaaaagtgg	9	12	0	2	rs2234700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226032896T>C	ENST00000366837.4	+	9	1412	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.L406L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	406				L -> F (in Ref. 3; CAA68486). {ECO:0000305}.	aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TTTTGAGCTATTGCACACGCC	0.572													t|||	106	0.0211661	0.0741	0.0043	5008	,	,		13351	0.001		0.0	False		,,,				2504	0.0041				p.L406L		Atlas-SNP	.											.	EPHX1	57	.	0			c.T1216C						PASS	.	C	,	208,4198	127.8+/-164.7	7,194,2002	102	93	96		1216,1216	-10	0	1	dbSNP_98	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EPHX1	NM_000120.3,NM_001136018.2	,	7,194,6302	CC,CT,TT		0.0,4.7208,1.5993	,	406/456,406/456	226032896	208,12798	2203	4300	6503	SO:0001819	synonymous_variant	2052	exon9			GAGCTATTGCACA	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1216T>C	1.37:g.226032896T>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	147	78	0.530612	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	CCDS1547.1																																																																																			T|0.980;C|0.020	0.020	strong		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		C	226032896	T	C	226032896	2	2	22	1	0	0	0	0	0	0	0	1	5179	1490	52	2		2	EPHX1	1	226032896	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6490	226032896	23217725	1001	6109										
TMEM63A	9725	hgsc.bcm.edu	37	chr1	226034913	226034913	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaatccgaggcacgtagGgctgtcagcaaatggatttg	13	8	2	1	rs58852301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226034913G>A	ENST00000366835.3	-	24	2522	c.2252C>T	c.(2251-2253)cCc>cTc	p.P751L	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	751					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGGCACGTAGGGCTGTCAGCA	0.592													G|||	193	0.0385383	0.1346	0.0202	5008	,	,		20323	0.0		0.0	False		,,,				2504	0.001				p.P751L		Atlas-SNP	.											TMEM63A,colon,carcinoma,+1,1	TMEM63A	75	1	0			c.C2252T						PASS	.	G	LEU/PRO	562,3838	234.2+/-247.1	35,492,1673	65	56	59		2252	3.1	1	1	dbSNP_129	59	0,8598		0,0,4299	yes	missense-near-splice	TMEM63A	NM_014698.2	98	35,492,5972	AA,AG,GG		0.0,12.7727,4.3237	benign	751/808	226034913	562,12436	2200	4299	6499	SO:0001630	splice_region_variant	9725	exon24			ACGTAGGGCTGTC		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2251-1C>T	1.37:g.226034913G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	CCDS31042.1	78	0.03571428571428571	70	0.14227642276422764	8	0.022099447513812154	0	0.0	0	0.0	G	10.91	1.484973	0.26598	0.127727	0.0	ENSG00000196187	ENST00000366835	T	0.16597	2.33	4.11	3.1	0.35709	.	0.162225	0.53938	D	0.000053	T	0.00109	0.0003	L	0.57536	1.79	0.09310	P	0.99999999815609	B	0.06786	0.001	B	0.08055	0.003	T	0.05989	-1.0852	9	0.33940	T	0.23	-22.7721	5.9809	0.19407	0.1448:0.0:0.8552:0.0	rs58852301	751	O94886	TM63A_HUMAN	L	751	ENSP00000355800:P751L	ENSP00000355800:P751L	P	-	2	0	TMEM63A	224101536	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	1.585000	0.36600	2.146000	0.66826	0.448000	0.29417	CCC	G|0.956;A|0.044	0.044	strong		0.592	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	Missense_Mutation	A	226034913	G	A	226034913	5	1	22	1	0	0	0	0	0	0	1	0	16187	1246	43	2	175	2	TMEM63A	1	226034913	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2017	226034913	23215708	1002	6110										
TMEM63A	9725	hgsc.bcm.edu	37	chr1	226050503	226050503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtagatcagtttggccacGttgtagcacagctgcacatc	11	10	1	1	rs10915888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226050503G>A	ENST00000366835.3	-	11	1065	c.795C>T	c.(793-795)aaC>aaT	p.N265N	TMEM63A_ENST00000537914.1_De_novo_Start_OutOfFrame|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	265					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTTGGCCACGTTGTAGCACA	0.572													G|||	199	0.0397364	0.1392	0.0202	5008	,	,		18776	0.0		0.0	False		,,,				2504	0.001				p.N265N		Atlas-SNP	.											.	TMEM63A	75	.	0			c.C795T						PASS	.	G		574,3832	255.8+/-260.9	35,504,1664	114	81	92		795	-1	0.8	1	dbSNP_120	92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TMEM63A	NM_014698.2		35,506,5962	AA,AG,GG		0.0233,13.0277,4.4287		265/808	226050503	576,12430	2203	4300	6503	SO:0001819	synonymous_variant	9725	exon11			GGCCACGTTGTAG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.795C>T	1.37:g.226050503G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	203	108	0.53202	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	CCDS31042.1																																																																																			G|0.956;A|0.044	0.044	strong		0.572	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226050503	G	A	226050503	2	1	22	1	0	0	0	0	0	0	0	1	16187	1136	40	1		1	TMEM63A	1	226050503	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15590	226050503	23200118	1003	6111										
TMEM63A	9725	hgsc.bcm.edu	37	chr1	226055595	226055595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggtcattacccagcaaGtcccctgagaggttgacagg	14	10	1	2	rs2292564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226055595G>A	ENST00000366835.3	-	7	777	c.507C>T	c.(505-507)gaC>gaT	p.D169D	TMEM63A_ENST00000537914.1_5'Flank|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	169					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.D169D(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TACCCAGCAAGTCCCCTGAGA	0.547													G|||	2154	0.430112	0.5189	0.3127	5008	,	,		19546	0.5188		0.2624	False		,,,				2504	0.4744				p.D169D		Atlas-SNP	.											TMEM63A,NS,carcinoma,0,1	TMEM63A	75	1	1	Substitution - coding silent(1)	stomach(1)	c.C507T						PASS	.	G		1936,2470	549.9+/-377.9	427,1082,694	136	106	116		507	4.8	0.6	1	dbSNP_100	116	2486,6114	408.4+/-349.5	375,1736,2189	no	coding-synonymous	TMEM63A	NM_014698.2		802,2818,2883	AA,AG,GG		28.907,43.9401,33.9997		169/808	226055595	4422,8584	2203	4300	6503	SO:0001819	synonymous_variant	9725	exon7			CAGCAAGTCCCCT		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.507C>T	1.37:g.226055595G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	CCDS31042.1																																																																																			G|0.640;A|0.360	0.360	strong		0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226055595	G	A	226055595	2	1	22	1	0	0	0	0	0	0	0	1	16187	1020	36	2		2	TMEM63A	1	226055595	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5092	226055595	23195026	1004	6112										
LEFTY1	10637	hgsc.bcm.edu	37	chr1	226074436	226074436	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactaggcgcctatggctgGagcctccttggcacgagcgc	13	14	0	0	rs35684337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226074436G>C	ENST00000272134.5	-	4	1171	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	RP4-559A3.7_ENST00000432920.2_3'UTR|LEFTY1_ENST00000492457.1_5'Flank	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	364					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CCTATGGCTGGAGCCTCCTTG	0.602													G|||	195	0.0389377	0.1354	0.0216	5008	,	,		18096	0.0		0.0	False		,,,				2504	0.001				p.L364L		Atlas-SNP	.											.	LEFTY1	30	.	0			c.C1092G						PASS	.	G		556,3840		26,504,1668	60	62	61		1092	1.1	0.8	1	dbSNP_126	61	0,8598		0,0,4299	no	coding-synonymous	LEFTY1	NM_020997.3		26,504,5967	CC,CG,GG		0.0,12.6479,4.2789		364/367	226074436	556,12438	2198	4299	6497	SO:0001819	synonymous_variant	10637	exon4			TGGCTGGAGCCTC	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.1092C>G	1.37:g.226074436G>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	198	109	0.550505	NM_020997	B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	CCDS1548.1																																																																																			G|0.963;C|0.037	0.037	strong		0.602	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		C	226074436	G	C	226074436	2	2	22	1	0	0	0	0	0	0	0	1	8715	1161	41	4		4	LEFTY1	1	226074436	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18841	226074436	23176185	1005	6113										
LEFTY1	10637	hgsc.bcm.edu	37	chr1	226074635	226074635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggcctccgggggctgcCggcaggtgcccacacactca	14	17	1	0	rs61739581	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226074635C>T	ENST00000272134.5	-	4	972	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	RP4-559A3.7_ENST00000432920.2_3'UTR|LEFTY1_ENST00000492457.1_5'Flank	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	298					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CGGGGGCTGCCGGCAGGTGCC	0.642													c|||	331	0.0660942	0.236	0.0245	5008	,	,		16397	0.0		0.002	False		,,,				2504	0.0				p.R298Q		Atlas-SNP	.											.	LEFTY1	30	.	0			c.G893A						PASS	.	C	GLN/ARG	866,3536		78,710,1413	16	20	19		893	-8	0.7	1	dbSNP_129	19	12,8578		0,12,4283	no	missense	LEFTY1	NM_020997.3	43	78,722,5696	TT,TC,CC		0.1397,19.6729,6.758	benign	298/367	226074635	878,12114	2201	4295	6496	SO:0001583	missense	10637	exon4			GGCTGCCGGCAGG	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.893G>A	1.37:g.226074635C>T	ENSP00000272134:p.Arg298Gln	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	285	134	0.470175	NM_020997	B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	CCDS1548.1	124	0.056776556776556776	114	0.23170731707317074	10	0.027624309392265192	0	0.0	0	0.0	c	6.256	0.415350	0.11870	0.196729	0.001397	ENSG00000243709	ENST00000272134	D	0.83506	-1.73	4.0	-7.99	0.01131	Transforming growth factor-beta, C-terminal (3);	0.426594	0.27613	N	0.018587	T	0.00039	0.0001	N	0.11131	0.1	0.53688	P	2.6999999999999247E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.23261	-1.0193	9	0.12430	T	0.62	.	3.7673	0.08627	0.2397:0.4502:0.0985:0.2116	.	298	O75610	LFTY1_HUMAN	Q	298	ENSP00000272134:R298Q	ENSP00000272134:R298Q	R	-	2	0	LEFTY1	224141258	0.810000	0.29049	0.721000	0.30653	0.735000	0.41995	-0.153000	0.10144	-2.307000	0.00653	-0.993000	0.02533	CGG	C|0.939;T|0.061	0.061	strong		0.642	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		T	226074635	C	T	226074635	3	4	22	1	0	0	0	0	1	0	0	0	8715	652	23	1	211	1	LEFTY1	1	226074635	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199	226074635	23175986	1006	6114										
LEFTY1	10637	hgsc.bcm.edu	37	chr1	226076598	226076598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacgtactgggccctcaCgtgggtggggatgaccagct	16	12	1	1	rs35273824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226076598C>T	ENST00000272134.5	-	1	248	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	57			V -> M (in dbSNP:rs35273824).		cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					TGGGCCCTCACGTGGGTGGGG	0.697													C|||	194	0.038738	0.1346	0.0216	5008	,	,		17711	0.0		0.0	False		,,,				2504	0.001				p.V57M		Atlas-SNP	.											.	LEFTY1	30	.	0			c.G169A						PASS	.	C	MET/VAL	581,3825	246.8+/-255.3	33,515,1655	30	32	31		169	1	0.1	1	dbSNP_126	31	0,8598		0,0,4299	yes	missense	LEFTY1	NM_020997.3	21	33,515,5954	TT,TC,CC		0.0,13.1866,4.4679	probably-damaging	57/367	226076598	581,12423	2203	4299	6502	SO:0001583	missense	10637	exon1			CCCTCACGTGGGT	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.169G>A	1.37:g.226076598C>T	ENSP00000272134:p.Val57Met	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	194	103	0.530928	NM_020997	B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	CCDS1548.1	78	0.03571428571428571	70	0.14227642276422764	8	0.022099447513812154	0	0.0	0	0.0	c	11.47	1.647249	0.29246	0.131866	0.0	ENSG00000243709	ENST00000272134	T	0.58940	0.3	4.18	0.96	0.19631	Transforming growth factor-beta, N-terminal (1);	0.188005	0.47093	D	0.000242	T	0.00967	0.0032	M	0.74881	2.28	0.44789	P	0.0022060000000000413	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.29305	-1.0016	9	0.34782	T	0.22	.	4.8349	0.13460	0.0:0.613:0.177:0.21	rs35273824	57;57	B2R7U0;O75610	.;LFTY1_HUMAN	M	57	ENSP00000272134:V57M	ENSP00000272134:V57M	V	-	1	0	LEFTY1	224143221	0.997000	0.39634	0.125000	0.21846	0.032000	0.12392	2.679000	0.46909	0.249000	0.21456	0.313000	0.20887	GTG	C|0.956;T|0.044	0.044	strong		0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		T	226076598	C	T	226076598	3	4	22	1	0	0	0	0	1	0	0	0	8715	536	19	1	947	1	LEFTY1	1	226076598	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1963	226076598	23174023	1007	6115										
PYCR2	29920	hgsc.bcm.edu	37	chr1	226108200	226108200	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcttcttgtgaggagcttCcctgggctggagggggtcag	18	8	2	1	rs73131849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226108200C>T	ENST00000343818.6	-	7	1066	c.918G>A	c.(916-918)ggG>ggA	p.G306G	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	306					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TGAGGAGCTTCCCTGGGCTGG	0.577													C|||	864	0.172524	0.3048	0.2378	5008	,	,		12278	0.0833		0.16	False		,,,				2504	0.0521				p.G306G		Atlas-SNP	.											.	PYCR2	13	.	0			c.G918A						PASS	.	C		1271,3135	434.3+/-343.9	173,925,1105	80	85	83		918	-0.2	0.9	1	dbSNP_130	83	1299,7301	256.3+/-280.9	100,1099,3101	no	coding-synonymous	PYCR2	NM_013328.2		273,2024,4206	TT,TC,CC		15.1047,28.847,19.7601		306/321	226108200	2570,10436	2203	4300	6503	SO:0001819	synonymous_variant	29920	exon7			GAGCTTCCCTGGG	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.918G>A	1.37:g.226108200C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	126	67	0.531746	NM_013328	A8K798|Q7Z515|Q9Y5J4	Silent	SNP	ENST00000343818.6	37	CCDS31043.1																																																																																			C|0.808;T|0.192	0.192	strong		0.577	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		T	226108200	C	T	226108200	2	4	22	1	0	0	0	0	0	0	0	1	12856	842	30	2		2	PYCR2	1	226108200	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31602	226108200	23142421	1008	6116										
C1orf95	375057	hgsc.bcm.edu	37	chr1	226785102	226785102	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccatccacgttccctgtAttttcccacgcccatctaca	3	19	1	0	rs73098850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:226785102A>G	ENST00000366788.3	+	2	487				C1orf95_ENST00000366789.4_Intron	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95							integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CGTTCCCTGTATTTTCCCACG	0.468													A|||	272	0.0543131	0.1914	0.0245	5008	,	,		21325	0.0		0.001	False		,,,				2504	0.001				.		Atlas-SNP	.											.	C1orf95	16	.	0			c.383-2A>G						PASS	.	A		248,1136		22,204,466	354	286	306			-2.8	0	1	dbSNP_130	306	0,3182		0,0,1591	yes	intron	C1orf95	NM_001003665.3		22,204,2057	GG,GA,AA		0.0,17.9191,5.4314			226785102	248,4318	692	1591	2283	SO:0001627	intron_variant	375057	exon3			CCCTGTATTTTCC	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.382+420A>G	1.37:g.226785102A>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	205	101	0.492683	NM_001003665	A6NGL2	Splice_Site	SNP	ENST00000366788.3	37	CCDS31044.1																																																																																			A|0.961;G|0.039	0.039	strong		0.468	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		G	226785102	A	G	226785102	1	3	22	0	1	0	0	0	0	0	0	0	2072	463	16	2		2	C1orf95	1	226785102	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	676902	226785102	22465519	1009	6117										
PSEN2	5664	hgsc.bcm.edu	37	chr1	227076671	227076671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctacctcatcatgatcagTgcgctcatggccctagtgtt	9	13	4	1	rs61730652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227076671T>C	ENST00000366783.3	+	8	1144	c.708T>C	c.(706-708)agT>agC	p.S236S	PSEN2_ENST00000340188.4_Silent_p.S236S|PSEN2_ENST00000366782.1_Silent_p.S269S|PSEN2_ENST00000472139.2_Silent_p.S92S|PSEN2_ENST00000391872.2_Silent_p.S269S|PSEN2_ENST00000422240.2_Silent_p.S236S	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	236					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TCATGATCAGTGCGCTCATGG	0.602													T|||	146	0.0291534	0.0893	0.0101	5008	,	,		18772	0.0		0.0129	False		,,,				2504	0.0082				p.S236S		Atlas-SNP	.											.	PSEN2	55	.	0			c.T708C						PASS	.	T	,	378,4028	190.5+/-216.4	16,346,1841	153	125	135		708,708	-4.3	0.9	1	dbSNP_129	135	63,8537	39.3+/-95.6	0,63,4237	no	coding-synonymous,coding-synonymous	PSEN2	NM_000447.2,NM_012486.2	,	16,409,6078	CC,CT,TT		0.7326,8.5792,3.3907	,	236/449,236/448	227076671	441,12565	2203	4300	6503	SO:0001819	synonymous_variant	5664	exon8			GATCAGTGCGCTC	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.708T>C	1.37:g.227076671T>C		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	295	141	0.477966	NM_012486	A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	CCDS1556.1																																																																																			T|0.969;C|0.031	0.031	strong		0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		C	227076671	T	C	227076671	2	2	22	1	0	0	0	0	0	0	0	1	12651	1693	59	2		2	PSEN2	1	227076671	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	291569	227076671	22173950	1010	6118										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227348245	227348245	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatttatctttatttaccGttccatcttccatcagcttc	4	11	3	0	rs34614709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227348245G>A	ENST00000366769.3	-	6	1983	c.692C>T	c.(691-693)aCg>aTg	p.T231M	CDC42BPA_ENST00000535525.1_Splice_Site_p.T231M|CDC42BPA_ENST00000366766.2_Splice_Site_p.T231M|CDC42BPA_ENST00000366764.2_Splice_Site_p.T231M|CDC42BPA_ENST00000334218.5_Splice_Site_p.T231M|CDC42BPA_ENST00000366765.3_Splice_Site_p.T231M|CDC42BPA_ENST00000366767.3_Splice_Site_p.T231M	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTATTTACCGTTCCATCTTC	0.318													G|||	29	0.00579073	0.0219	0.0	5008	,	,		16832	0.0		0.0	False		,,,				2504	0.0				p.T231M		Atlas-SNP	.											.	CDC42BPA	528	.	0			c.C692T						PASS	.	G	MET/THR,MET/THR	77,4329	68.7+/-106.4	1,75,2127	130	139	136		692,692	5.2	1	1	dbSNP_126	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	CDC42BPA	NM_003607.3,NM_014826.4	81,81	1,76,6426	AA,AG,GG		0.0116,1.7476,0.5997	probably-damaging,probably-damaging	231/1720,231/1639	227348245	78,12928	2203	4300	6503	SO:0001630	splice_region_variant	8476	exon6			TTTACCGTTCCAT	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.693+1C>T	1.37:g.227348245G>A		Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	305	136	0.445902	NM_003607		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	25.7	4.667652	0.88348	0.017476	1.16E-4	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.55743	1.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	T	0.65084	-0.6254	10	0.22109	T	0.4	.	17.4674	0.87637	0.0:0.0:1.0:0.0	rs34614709	231;231;231;231	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	M	231	ENSP00000355731:T231M;ENSP00000355729:T231M;ENSP00000335341:T231M;ENSP00000355728:T231M;ENSP00000355726:T231M;ENSP00000443275:T231M;ENSP00000355727:T231M	ENSP00000335341:T231M	T	-	2	0	CDC42BPA	225414868	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.035000	0.93752	2.394000	0.81467	0.585000	0.79938	ACG	G|0.995;A|0.005	0.005	strong		0.318	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	Missense_Mutation	A	227348245	G	A	227348245	5	1	22	1	0	0	0	0	0	0	1	0	3072	1159	40	1	4591	1	CDC42BPA	1	227348245	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	271574	227348245	21902376	1011	6119										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227504745	227504745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgttcttctctcttctcaAtggagaattattgcattcat	5	8	5	1	rs144296174		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227504745A>G	ENST00000366769.3	-	1	1430	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	CDC42BPA_ENST00000334218.5_Silent_p.L47L|CDC42BPA_ENST00000535525.1_Silent_p.L47L|CDC42BPA_ENST00000366764.2_Silent_p.L47L|CDC42BPA_ENST00000366767.3_Silent_p.L47L|CDC42BPA_ENST00000366766.2_Silent_p.L47L|CDC42BPA_ENST00000366765.3_Silent_p.L47L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTCTTCTCAATGGAGAATTA	0.378													a|||	1	0.000199681	0.0008	0.0	5008	,	,		18255	0.0		0.0	False		,,,				2504	0.0				p.L47L		Atlas-SNP	.											.	CDC42BPA	528	.	0			c.T139C						PASS	.	A	,	5,4401	9.9+/-24.2	0,5,2198	102	96	98		139,139	-1.5	0.8	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDC42BPA	NM_003607.3,NM_014826.4	,	0,5,6498	GG,GA,AA		0.0,0.1135,0.0384	,	47/1720,47/1639	227504745	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8476	exon1			TTCTCAATGGAGA	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.139T>C	1.37:g.227504745A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	167	84	0.502994	NM_003607		Silent	SNP	ENST00000366769.3	37	CCDS1558.1																																																																																			A|1.000;G|0.000	0.000	strong		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227504745	A	G	227504745	2	3	22	1	0	0	0	0	0	0	0	1	3072	98	4	2		2	CDC42BPA	1	227504745	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	156500	227504745	21745876	1012	6120										
ZNF678	339500	hgsc.bcm.edu	37	chr1	227842405	227842405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaattcatactggagagaaaCcctacaaatgtgacgaatgt	9	7	1	2	rs61283390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227842405C>A	ENST00000343776.5	+	4	799	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.P207T	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	152			P -> T (in dbSNP:rs61283390).		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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGGAGAGAAACCCTACAAATG	0.353													C|||	51	0.0101837	0.0371	0.0029	5008	,	,		20735	0.0		0.0	False		,,,				2504	0.0				p.P207T		Atlas-SNP	.											.	ZNF678	137	.	0			c.C619A						PASS	.	C	THR/PRO	173,4229	104.7+/-143.2	5,163,2033	56	65	62		619	-3.1	0	1	dbSNP_129	62	0,8598		0,0,4299	no	missense	ZNF678	NM_178549.3	38	5,163,6332	AA,AC,CC		0.0,3.93,1.3308	possibly-damaging	207/581	227842405	173,12827	2201	4299	6500	SO:0001583	missense	339500	exon4			GAGAAACCCTACA	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.454C>A	1.37:g.227842405C>A	ENSP00000344828:p.Pro152Thr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	90	52	0.577778	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	C	10.34	1.322066	0.23994	0.0393	0.0	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.28895	2.31;2.31;1.59	1.55	-3.11	0.05299	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	M	0.78637	2.42	0.24660	N	0.993474	D	0.54964	0.969	P	0.61275	0.886	T	0.25433	-1.0132	9	0.66056	D	0.02	.	7.8273	0.29322	0.0:0.7281:0.0:0.2719	rs61283390;rs61739464	152	Q5SXM1	ZN678_HUMAN	T	152;207;207	ENSP00000344828:P152T;ENSP00000440403:P207T;ENSP00000394651:P207T	ENSP00000344828:P152T	P	+	1	0	ZNF678	225909028	0.030000	0.19436	0.000000	0.03702	0.000000	0.00434	0.807000	0.27140	-0.880000	0.03997	-0.924000	0.02725	CCC	C|0.987;A|0.013	0.013	strong		0.353	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		A	227842405	C	A	227842405	3	1	22	1	0	0	0	0	1	0	0	0	18082	507	18	4	633	4	ZNF678	1	227842405	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	337660	227842405	21408216	1013	6121										
ZNF678	339500	hgsc.bcm.edu	37	chr1	227842516	227842516	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtgatgaatgtgacaaaGtttttaattggtggtcacaa	10	3	1	3	rs61744724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227842516G>C	ENST00000343776.5	+	4	910	c.565G>C	c.(565-567)Gtt>Ctt	p.V189L	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.V244L	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	189					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATGTGACAAAGTTTTTAATTG	0.373													G|||	82	0.0163738	0.059	0.0043	5008	,	,		18566	0.0		0.001	False		,,,				2504	0.0				p.V244L		Atlas-SNP	.											.	ZNF678	137	.	0			c.G730C						PASS	.	G	LEU/VAL	213,4193	124.5+/-161.8	3,207,1993	88	103	98		730	1.2	0.1	1	dbSNP_129	98	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF678	NM_178549.3	32	3,208,6291	CC,CG,GG		0.0116,4.8343,1.6456	benign	244/581	227842516	214,12790	2203	4299	6502	SO:0001583	missense	339500	exon4			GACAAAGTTTTTA	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.565G>C	1.37:g.227842516G>C	ENSP00000344828:p.Val189Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	30	0.5	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		27	0.012362637362637362	22	0.044715447154471545	1	0.0027624309392265192	4	0.006993006993006993	0	0.0	G	10.75	1.437218	0.25900	0.048343	1.16E-4	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.35605	1.3;1.3	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	L	0.41415	1.275	0.19945	N	0.999946	P	0.36171	0.541	B	0.36608	0.229	T	0.09100	-1.0690	9	0.72032	D	0.01	.	5.6119	0.17410	0.0:0.3493:0.6507:0.0	rs61744724	189	Q5SXM1	ZN678_HUMAN	L	189;244	ENSP00000344828:V189L;ENSP00000440403:V244L	ENSP00000344828:V189L	V	+	1	0	ZNF678	225909139	0.001000	0.12720	0.092000	0.20876	0.083000	0.17756	-0.016000	0.12613	0.502000	0.28037	0.505000	0.49811	GTT	G|0.987;C|0.013	0.013	strong		0.373	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		C	227842516	G	C	227842516	3	2	22	1	0	0	0	0	1	0	0	0	18082	1029	36	4	744	4	ZNF678	1	227842516	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111	227842516	21408105	1014	6122										
ZNF678	339500	hgsc.bcm.edu	37	chr1	227842561	227842561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagccataagaaaattcatAgtggagagaaaccataccca	7	9	1	2	rs116552491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:227842561A>G	ENST00000343776.5	+	4	955	c.610A>G	c.(610-612)Agt>Ggt	p.S204G	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.S259G	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	204					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAAAATTCATAGTGGAGAGAA	0.373													A|||	30	0.00599042	0.0212	0.0014	5008	,	,		19312	0.0		0.001	False		,,,				2504	0.0				p.S259G		Atlas-SNP	.											.	ZNF678	137	.	0			c.A775G						PASS	.	A	GLY/SER	77,4327	64.1+/-101.4	0,77,2125	100	115	110		775	0.3	0	1	dbSNP_132	110	0,8594		0,0,4297	no	missense	ZNF678	NM_178549.3	56	0,77,6422	GG,GA,AA		0.0,1.7484,0.5924	possibly-damaging	259/581	227842561	77,12921	2202	4297	6499	SO:0001583	missense	339500	exon4			ATTCATAGTGGAG	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.610A>G	1.37:g.227842561A>G	ENSP00000344828:p.Ser204Gly	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	A	13.99	2.401576	0.42613	0.017484	0.0	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.19669	2.13;2.13	1.49	0.308	0.15815	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	L	0.58354	1.805	0.24788	N	0.992776	P	0.43938	0.822	B	0.44044	0.439	T	0.13926	-1.0491	9	0.87932	D	0	.	4.1011	0.10014	0.7609:0.0:0.2391:0.0	.	204	Q5SXM1	ZN678_HUMAN	G	204;259	ENSP00000344828:S204G;ENSP00000440403:S259G	ENSP00000344828:S204G	S	+	1	0	ZNF678	225909184	0.232000	0.23762	0.004000	0.12327	0.027000	0.11550	1.213000	0.32407	0.587000	0.29643	0.413000	0.27773	AGT	A|0.996;G|0.004	0.004	strong		0.373	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		G	227842561	A	G	227842561	3	3	22	1	0	0	0	0	1	0	0	0	18082	420	15	3	789	3	ZNF678	1	227842561	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45	227842561	21408060	1015	6123										
PRSS38	339501	hgsc.bcm.edu	37	chr1	228003843	228003843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcggcgtccctgcgccCgagaggaagtggccgtggca	18	13	0	1	rs113353225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228003843C>T	ENST00000366757.3	+	2	225	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	67	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCCTGCGCCCGAGAGGAAGT	0.672													C|||	73	0.0145767	0.0537	0.0029	5008	,	,		14096	0.0		0.0	False		,,,				2504	0.0				p.P67P		Atlas-SNP	.											.	PRSS38	55	.	0			c.C201T						PASS	.	C		279,4127	151.8+/-185.6	4,271,1928	67	75	73		201	-8.3	0	1	dbSNP_132	73	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PRSS38	NM_183062.2		4,272,6226	TT,TC,CC		0.0116,6.3323,2.1532		67/327	228003843	280,12724	2203	4299	6502	SO:0001819	synonymous_variant	339501	exon2			TGCGCCCGAGAGG		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.201C>T	1.37:g.228003843C>T		Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	246	139	0.565041	NM_183062	Q7RTY6	Silent	SNP	ENST00000366757.3	37	CCDS1563.1																																																																																			C|0.982;T|0.018	0.018	strong		0.672	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		T	228003843	C	T	228003843	2	4	22	1	0	0	0	0	0	0	0	1	12627	639	23	1		1	PRSS38	1	228003843	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	161282	228003843	21246778	1016	6124										
PRSS38	339501	hgsc.bcm.edu	37	chr1	228003879	228003879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcaggtcagcgtgcactaCgcaggcctccacgtctgcgg	14	14	2	0	rs112241411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228003879C>T	ENST00000366757.3	+	2	261	c.237C>T	c.(235-237)taC>taT	p.Y79Y		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCGTGCACTACGCAGGCCTCC	0.662													C|||	73	0.0145767	0.0537	0.0029	5008	,	,		13078	0.0		0.0	False		,,,				2504	0.0				p.Y79Y		Atlas-SNP	.											PRSS38,colon,carcinoma,0,1	PRSS38	55	1	0			c.C237T						PASS	.	C		279,4127	150.3+/-184.3	4,271,1928	60	68	65		237	-0.7	0	1	dbSNP_132	65	1,8597		0,1,4298	no	coding-synonymous	PRSS38	NM_183062.2		4,272,6226	TT,TC,CC		0.0116,6.3323,2.1532		79/327	228003879	280,12724	2203	4299	6502	SO:0001819	synonymous_variant	339501	exon2			GCACTACGCAGGC		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.237C>T	1.37:g.228003879C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	254	131	0.515748	NM_183062	Q7RTY6	Silent	SNP	ENST00000366757.3	37	CCDS1563.1																																																																																			C|0.982;T|0.018	0.018	strong		0.662	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		T	228003879	C	T	228003879	2	4	22	1	0	0	0	0	0	0	0	1	12627	547	19	1		1	PRSS38	1	228003879	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	228003879	21246742	1017	6125										
WNT9A	7483	hgsc.bcm.edu	37	chr1	228109696	228109696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtctccaccccagccttGatcacctggcagaagggtgc	12	14	2	2	rs112703157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228109696G>A	ENST00000272164.5	-	4	631	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	207					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCCCAGCCTTGATCACCTGGC	0.677													G|||	122	0.024361	0.0862	0.0115	5008	,	,		17033	0.0		0.0	False		,,,				2504	0.0				p.I207I		Atlas-SNP	.											.	WNT9A	39	.	0			c.C621T						PASS	.	G		318,4080		6,306,1887	34	35	34		621	3.4	1	1	dbSNP_132	34	2,8592		0,2,4295	no	coding-synonymous	WNT9A	NM_003395.2		6,308,6182	AA,AG,GG		0.0233,7.2306,2.4631		207/366	228109696	320,12672	2199	4297	6496	SO:0001819	synonymous_variant	7483	exon4			AGCCTTGATCACC	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.621C>T	1.37:g.228109696G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	84	30	0.357143	NM_003395	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	CCDS31045.1																																																																																			G|0.977;A|0.023	0.023	strong		0.677	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		A	228109696	G	A	228109696	2	1	22	1	0	0	0	0	0	0	0	1	17395	1280	45	2		2	WNT9A	1	228109696	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	105817	228109696	21140925	1018	6126										
WNT3A	89780	hgsc.bcm.edu	37	chr1	228238443	228238443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtgcagaaggcacggccGccatctgtggctgcagcagc	14	13	1	1	rs61743220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228238443G>A	ENST00000284523.1	+	3	478	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	WNT3A_ENST00000366753.2_Missense_Mutation_p.A134T	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	134					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AGGCACGGCCGCCATCTGTGG	0.627													G|||	31	0.0061901	0.0234	0.0	5008	,	,		17447	0.0		0.0	False		,,,				2504	0.0				p.A134T		Atlas-SNP	.											.	WNT3A	40	.	0			c.G400A						PASS	.	G	THR/ALA	115,4291	86.3+/-125.0	1,113,2089	80	72	75		400	-2	0	1	dbSNP_129	75	0,8600		0,0,4300	yes	missense	WNT3A	NM_033131.3	58	1,113,6389	AA,AG,GG		0.0,2.6101,0.8842	benign	134/353	228238443	115,12891	2203	4300	6503	SO:0001583	missense	89780	exon3			ACGGCCGCCATCT	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.400G>A	1.37:g.228238443G>A	ENSP00000284523:p.Ala134Thr	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	167	79	0.473054	NM_033131	Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	CCDS1564.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	0.524	-0.860772	0.02610	0.026101	0.0	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75367	-0.93;-0.93	4.78	-1.98	0.07480	.	0.443415	0.23894	N	0.043517	T	0.15782	0.0380	N	0.00771	-1.2	0.24533	N	0.994101	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.25984	-1.0116	10	0.10377	T	0.69	.	12.1436	0.54012	0.6823:0.0:0.3177:0.0	rs61743220	134;134	P56704;Q3SY79	WNT3A_HUMAN;.	T	134	ENSP00000284523:A134T;ENSP00000355715:A134T	ENSP00000284523:A134T	A	+	1	0	WNT3A	226305066	0.916000	0.31088	0.005000	0.12908	0.134000	0.20937	1.632000	0.37102	-0.810000	0.04375	-1.094000	0.02160	GCC	G|0.992;A|0.008	0.008	strong		0.627	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		A	228238443	G	A	228238443	3	1	22	1	0	0	0	0	1	0	0	0	17386	1087	38	1	410	1	WNT3A	1	228238443	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128747	228238443	21012178	1019	6127										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228399628	228399628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgggagaaggaccagcaGccggtggcggccggcgcgcg	20	12	0	1	rs114375717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228399628G>A	ENST00000422127.1	+	2	188	c.144G>A	c.(142-144)caG>caA	p.Q48Q	OBSCN_ENST00000570156.2_Silent_p.Q48Q|OBSCN_ENST00000284548.11_Silent_p.Q48Q|OBSCN_ENST00000366707.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	48	Ig-like 1.				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)				AGGACCAGCAGCCGGTGGCGG	0.682													G|||	39	0.00778754	0.0287	0.0014	5008	,	,		11232	0.0		0.0	False		,,,				2504	0.0				p.Q48Q		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G144A						PASS	.	G	,	120,3834		0,120,1857	8	10	10		144,144	1.5	0.9	1	dbSNP_132	10	0,8146		0,0,4073	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,120,5930	AA,AG,GG		0.0,3.0349,0.9917	,	48/7969,48/6621	228399628	120,11980	1977	4073	6050	SO:0001819	synonymous_variant	84033	exon2			CCAGCAGCCGGTG	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.144G>A	1.37:g.228399628G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	71	42	0.591549	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.992;A|0.008	0.008	strong		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228399628	G	A	228399628	2	1	22	1	0	0	0	0	0	0	0	1	10812	962	34	2		2	OBSCN	1	228399628	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161185	228399628	20850993	1020	6128										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228402508	228402508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccccaggaagcctcccCtgcaaccccctgtggatcct	8	20	0	0	rs2776853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228402508C>T	ENST00000422127.1	+	5	1581	c.1537C>T	c.(1537-1539)Ctg>Ttg	p.L513L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.L513L|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000284548.11_Silent_p.L513L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	513					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)				GAAGCCTCCCCTGCAACCCCC	0.612													C|||	1381	0.275759	0.3086	0.353	5008	,	,		17070	0.1706		0.3618	False		,,,				2504	0.1963				p.L513L		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C1537T						PASS	.	C	,	1272,2538		201,870,834	35	39	38		1537,1537	3.6	0	1	dbSNP_100	38	3213,5025		632,1949,1538	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	833,2819,2372	TT,TC,CC		39.0022,33.3858,37.2261	,	513/7969,513/6621	228402508	4485,7563	1905	4119	6024	SO:0001819	synonymous_variant	84033	exon5			CCTCCCCTGCAAC	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.1537C>T	1.37:g.228402508C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.687;T|0.313	0.313	strong		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228402508	C	T	228402508	2	4	22	1	0	0	0	0	0	0	0	1	10812	680	24	2		2	OBSCN	1	228402508	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2880	228402508	20848113	1021	6129										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228404864	228404864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgggccactccggtgagcGcttcttgcaggaggatgtgg	17	10	1	1	rs141921462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228404864G>A	ENST00000422127.1	+	8	2572	c.2528G>A	c.(2527-2529)cGc>cAc	p.R843H	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R843H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R843H|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	843	Ig-like 8.				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)				TCCGGTGAGCGCTTCTTGCAG	0.662													G|||	36	0.0071885	0.0272	0.0	5008	,	,		16092	0.0		0.0	False		,,,				2504	0.0				p.R843H		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G2528A						PASS	.	G	HIS/ARG,HIS/ARG	124,4184		1,122,2031	64	72	69		2528,2528	-2.1	0	1	dbSNP_134	69	1,8503		0,1,4251	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	29,29	1,123,6282	AA,AG,GG		0.0118,2.8784,0.9756	probably-damaging,probably-damaging	843/7969,843/6621	228404864	125,12687	2154	4252	6406	SO:0001583	missense	84033	exon8			GTGAGCGCTTCTT	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.2528G>A	1.37:g.228404864G>A	ENSP00000409493:p.Arg843His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	57	0.626374	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	37	CCDS58065.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	.	8.071	0.770330	0.15983	0.028784	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.52057	0.68;0.68	4.79	-2.11	0.07187	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.987508	0.08243	N	0.975792	T	0.20659	0.0497	L	0.58101	1.795	0.09310	N	0.999998	B;D	0.64830	0.008;0.994	B;P	0.48454	0.003;0.578	T	0.31110	-0.9955	10	0.14656	T	0.56	.	7.3341	0.26599	0.6513:0.0:0.2172:0.1315	.	843;843	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	843	ENSP00000284548:R843H;ENSP00000409493:R843H	ENSP00000284548:R843H	R	+	2	0	OBSCN	226471487	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.113000	0.03296	-0.663000	0.05331	-0.768000	0.03414	CGC	G|0.996;A|0.004	0.004	strong		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228404864	G	A	228404864	3	1	22	1	0	0	0	0	1	0	0	0	10812	1087	38	1	2554	1	OBSCN	1	228404864	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2356	228404864	20845757	1022	6130										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228412227	228412227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcagaggcaggagccagTgccacactgagctgcgaggt	16	11	0	2	rs386640006|rs1771480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228412227T>C	ENST00000422127.1	+	9	2765	c.2721T>C	c.(2719-2721)agT>agC	p.S907S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.S999S|OBSCN_ENST00000284548.11_Silent_p.S907S|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	907	Ig-like 9.				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)				CAGGAGCCAGTGCCACACTGA	0.612													T|||	2066	0.41254	0.5885	0.402	5008	,	,		17552	0.3849		0.3668	False		,,,				2504	0.2577				p.S999S		Atlas-SNP	.											.	OBSCN	2142	.	0			c.T2997C						PASS	.						41	43	42					1																	228412227		2110	4222	6332	SO:0001819	synonymous_variant	84033	exon10			AGCCAGTGCCACA	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.2721T>C	1.37:g.228412227T>C		Somatic	285	1	0.00350877		WXS	Illumina HiSeq	Phase_I	235	230	0.978723	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			T|0.612;C|0.388	0.388	strong		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228412227	T	C	228412227	2	2	22	1	0	0	0	0	0	0	0	1	10812	1693	59	2		2	OBSCN	1	228412227	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7363	228412227	20838394	1023	6131										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228412308	228412308	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagctgagctccagctcGaaagtgtgcatggaggccac	13	10	0	2	rs1757152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228412308G>A	ENST00000422127.1	+	9	2846	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.S1026S|OBSCN_ENST00000284548.11_Silent_p.S934S|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	934	Ig-like 9.|Poly-Ser.				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)				GCTCCAGCTCGAAAGTGTGCA	0.662													G|||	2066	0.41254	0.5885	0.402	5008	,	,		19773	0.3839		0.3678	False		,,,				2504	0.2577				p.S1026S		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G3078A						PASS	.	G	,	2342,1864		643,1056,404	58	59	59		2802,2802	-9	0	1	dbSNP_89	59	3317,5133		663,1991,1571	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	1306,3047,1975	AA,AG,GG		39.2544,44.3176,44.714	,	934/7969,934/6621	228412308	5659,6997	2103	4225	6328	SO:0001819	synonymous_variant	84033	exon10			CAGCTCGAAAGTG	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.2802G>A	1.37:g.228412308G>A		Somatic	343	2	0.0058309		WXS	Illumina HiSeq	Phase_I	308	308	1	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.567;A|0.433	0.433	strong		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228412308	G	A	228412308	2	1	22	1	0	0	0	0	0	0	0	1	10812	1045	37	1		1	OBSCN	1	228412308	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81	228412308	20838313	1024	6132										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228437772	228437772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcccaggcccagacagaGgtgacgtggtacaaggacgg	17	10	0	3	rs12080655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228437772G>A	ENST00000422127.1	+	14	4184	c.4140G>A	c.(4138-4140)gaG>gaA	p.E1380E	OBSCN_ENST00000570156.2_Silent_p.E1472E|OBSCN_ENST00000284548.11_Silent_p.E1380E|OBSCN_ENST00000366707.4_De_novo_Start_InFrame|OBSCN_ENST00000366709.4_De_novo_Start_InFrame	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1380	Ig-like 14.				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)				CCCAGACAGAGGTGACGTGGT	0.642													G|||	306	0.0611022	0.0537	0.0072	5008	,	,		16429	0.1746		0.003	False		,,,				2504	0.0521				p.E1472E		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G4416A						PASS	.	G	,	221,3917		8,205,1856	79	82	81		4140,4140	3.2	0.8	1	dbSNP_120	81	21,8375		0,21,4177	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	8,226,6033	AA,AG,GG		0.2501,5.3407,1.9307	,	1380/7969,1380/6621	228437772	242,12292	2069	4198	6267	SO:0001819	synonymous_variant	84033	exon15			GACAGAGGTGACG	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.4140G>A	1.37:g.228437772G>A		Somatic	354	1	0.00282486		WXS	Illumina HiSeq	Phase_I	376	182	0.484043	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.955;A|0.045	0.045	strong		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228437772	G	A	228437772	2	1	22	1	0	0	0	0	0	0	0	1	10812	991	35	2		2	OBSCN	1	228437772	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25464	228437772	20812849	1025	6133										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228461655	228461655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagccagggggacacccaCaccctgaccgtgcatggcgc	13	17	0	1	rs138055037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228461655C>T	ENST00000422127.1	+	18	5366	c.5322C>T	c.(5320-5322)caC>caT	p.H1774H	OBSCN_ENST00000359599.6_Silent_p.H621H|OBSCN_ENST00000284548.11_Silent_p.H1774H|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Silent_p.H2149H|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1774	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GGGACACCCACACCCTGACCG	0.662													C|||	35	0.00698882	0.0265	0.0	5008	,	,		17285	0.0		0.0	False		,,,				2504	0.0				p.H2149H		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C6447T						PASS	.	C	,	115,4115		1,113,2001	19	23	22		5322,5322	1.3	1	1	dbSNP_134	22	0,8446		0,0,4223	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	1,113,6224	TT,TC,CC		0.0,2.7187,0.9072	,	1774/7969,1774/6621	228461655	115,12561	2115	4223	6338	SO:0001819	synonymous_variant	84033	exon22			CACCCACACCCTG	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.5322C>T	1.37:g.228461655C>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	184	103	0.559783	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.996;T|0.004	0.004	strong		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228461655	C	T	228461655	2	4	22	1	0	0	0	0	0	0	0	1	10812	477	17	2		2	OBSCN	1	228461655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23883	228461655	20788966	1026	6134										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228468244	228468244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcagtgaagccggtggtGttcctgaaggcgctggatga	16	9	0	3	rs12061320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228468244G>A	ENST00000422127.1	+	30	7988	c.7944G>A	c.(7942-7944)gtG>gtA	p.V2648V	OBSCN_ENST00000359599.6_Silent_p.V1495V|OBSCN_ENST00000284548.11_Silent_p.V2648V|OBSCN_ENST00000570156.2_Silent_p.V3077V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2648	Ig-like 26.				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)				AGCCGGTGGTGTTCCTGAAGG	0.642													g|||	569	0.113618	0.115	0.0173	5008	,	,		16189	0.3185		0.0268	False		,,,				2504	0.0583				p.V3077V		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G9231A						PASS	.		,	452,3880		24,404,1738	46	54	51		7944,7944	2.2	1	1	dbSNP_120	51	156,8368		0,156,4106	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	24,560,5844	AA,AG,GG		1.8301,10.434,4.7293	,	2648/7969,2648/6621	228468244	608,12248	2166	4262	6428	SO:0001819	synonymous_variant	84033	exon35			GGTGGTGTTCCTG	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.7944G>A	1.37:g.228468244G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	93	54	0.580645	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.865;A|0.135	0.135	strong		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228468244	G	A	228468244	2	1	22	1	0	0	0	0	0	0	0	1	10812	1364	48	2		2	OBSCN	1	228468244	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6589	228468244	20782377	1027	6135										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228469870	228469870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggtggtcttctctgtgCggggcctcacctccaaggcc	15	13	3	0	rs3795785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228469870C>T	ENST00000422127.1	+	31	8478	c.8434C>T	c.(8434-8436)Cgg>Tgg	p.R2812W	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1659W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2812W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3241W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2812	Ig-like 27.		R -> W (in dbSNP:rs3795785).		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)				CTTCTCTGTGCGGGGCCTCAC	0.652													C|||	437	0.0872604	0.0439	0.013	5008	,	,		16137	0.2808		0.0249	False		,,,				2504	0.0634				p.R3241W		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C9721T						PASS	.	C	TRP/ARG,TRP/ARG	187,3787		6,175,1806	31	36	35		8434,8434	-0.2	0	1	dbSNP_107	35	148,8144		0,148,3998	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	6,323,5804	TT,TC,CC		1.7849,4.7056,2.7311	benign,benign	2812/7969,2812/6621	228469870	335,11931	1987	4146	6133	SO:0001583	missense	84033	exon36			TCTGTGCGGGGCC	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.8434C>T	1.37:g.228469870C>T	ENSP00000409493:p.Arg2812Trp	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	226	88	0.389381	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	37	CCDS58065.1	217	0.09935897435897435	18	0.036585365853658534	5	0.013812154696132596	170	0.2972027972027972	24	0.0316622691292876	C	9.047	0.991227	0.18966	0.047056	0.017849	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.41400	1.0;1.0;1.0	4.21	-0.154	0.13399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	1.005240	0.08013	N	0.990625	T	0.00012	0.0000	M	0.70275	2.135	0.28160	P	0.9290387	B;B;B	0.21606	0.058;0.035;0.048	B;B;B	0.20577	0.011;0.001;0.03	T	0.25467	-1.0131	9	0.66056	D	0.02	.	10.1616	0.42855	0.0:0.5157:0.4097:0.0746	rs3795785;rs61099141;rs3795785	2812;2812;2812	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2812;2812;1659;511;218	ENSP00000284548:R2812W;ENSP00000409493:R2812W;ENSP00000352613:R1659W	ENSP00000284548:R2812W	R	+	1	2	OBSCN	226536493	0.004000	0.15560	0.026000	0.17262	0.140000	0.21249	0.994000	0.29693	-0.239000	0.09710	-1.520000	0.00934	CGG	C|0.882;T|0.118	0.118	strong		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228469870	C	T	228469870	3	4	22	1	0	0	0	0	1	0	0	0	10812	759	27	1	8552	1	OBSCN	1	228469870	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1626	228469870	20780751	1028	6136										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228473959	228473959	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcccgggggctaccacgTgctgaccctgcggcagctgg	15	16	0	1	rs202022683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228473959T>G	ENST00000422127.1	+	34	9229	c.9185T>G	c.(9184-9186)gTg>gGg	p.V3062G	OBSCN_ENST00000359599.6_Missense_Mutation_p.V1909G|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3062G|OBSCN_ENST00000570156.2_Missense_Mutation_p.V3491G|OBSCN_ENST00000366709.4_Missense_Mutation_p.V181G|OBSCN_ENST00000366707.4_Missense_Mutation_p.V181G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3062	Ig-like 30.				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)				GGCTACCACGTGCTGACCCTG	0.662													T|||	36	0.0071885	0.0272	0.0	5008	,	,		17519	0.0		0.0	False		,,,				2504	0.0				p.V3491G		Atlas-SNP	.											OBSCN_ENST00000570156,NS,haematopoietic_neoplasm,0,4	OBSCN	2142	4	0			c.T10472G						scavenged	.	T	GLY/VAL,GLY/VAL	98,4070		1,96,1987	26	33	31		9185,9185	4.5	1	1	dbSNP_134	31	0,8434		0,0,4217	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	109,109	1,96,6204	GG,GT,TT		0.0,2.3512,0.7777	possibly-damaging,possibly-damaging	3062/7969,3062/6621	228473959	98,12504	2084	4217	6301	SO:0001583	missense	84033	exon39			ACCACGTGCTGAC	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.9185T>G	1.37:g.228473959T>G	ENSP00000409493:p.Val3062Gly	Somatic	192	2	0.0104167		WXS	Illumina HiSeq	Phase_I	204	101	0.495098	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	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084154	0.76642	0.023512	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.67	4.49	0.54785	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.638941	0.14451	N	0.318802	T	0.59555	0.2202	M	0.66939	2.045	0.39455	D	0.967471	P;D	0.54207	0.877;0.965	P;P	0.62435	0.818;0.902	T	0.66208	-0.5981	10	0.23891	T	0.37	.	6.0668	0.19868	0.1444:0.0756:0.0:0.7801	.	3062;3062	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	3062;3062;181;181;1909	ENSP00000284548:V3062G;ENSP00000409493:V3062G;ENSP00000355668:V181G;ENSP00000355670:V181G;ENSP00000352613:V1909G	ENSP00000284548:V3062G	V	+	2	0	OBSCN	226540582	0.533000	0.26354	0.959000	0.39883	0.795000	0.44927	1.070000	0.30653	2.155000	0.67459	0.459000	0.35465	GTG	.	.	weak		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228473959	T	G	228473959	3	3	22	1	0	0	0	0	1	0	0	0	10812	1696	59	5	9315	5	OBSCN	1	228473959	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4089	228473959	20776662	1029	6137										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228476366	228476366	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagactgagacaccaagaGagcatagaaggggccacagc					rs3795789|rs386640016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228476366G>T	ENST00000422127.1	+	38	10160	c.10116G>T	c.(10114-10116)gaG>gaT	p.E3372D	OBSCN_ENST00000359599.6_Missense_Mutation_p.E2219D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3372D|OBSCN_ENST00000570156.2_Missense_Mutation_p.E3801D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E491D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E491D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3372	Ig-like 34.		E -> D (in dbSNP:rs3795789).		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)				GACACCAAGAGAGCATAGAAG	0.607													G|||	480	0.0958466	0.0514	0.0144	5008	,	,		21025	0.3165		0.0258	False		,,,				2504	0.0583				p.E3801D		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G11403T						PASS	.	G	ASP/GLU,ASP/GLU	186,3926		8,170,1878	71	76	75		10116,10116	3.2	0.2	1	dbSNP_107	75	125,8281		0,125,4078	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	45,45	8,295,5956	TT,TG,GG		1.487,4.5233,2.4844	possibly-damaging,possibly-damaging	3372/7969,3372/6621	228476366	311,12207	2056	4203	6259	SO:0001583	missense	84033	exon43			CCAAGAGAGCATA	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.10116G>T	1.37:g.228476366G>T	ENSP00000409493:p.Glu3372Asp	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	122	63	0.516393	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	37	CCDS58065.1	208	0.09523809523809523	17	0.034552845528455285	3	0.008287292817679558	167	0.291958041958042	21	0.027704485488126648	G	16.90	3.251180	0.59212	0.045233	0.01487	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.07	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.325170	0.22002	N	0.065982	T	0.00012	0.0000	M	0.87758	2.905	0.38410	P	0.054088000000000025	B;P	0.38863	0.139;0.65	P;P	0.51701	0.472;0.677	T	0.08785	-1.0705	9	0.32370	T	0.25	.	6.4245	0.21762	0.1648:0.0:0.6798:0.1554	rs3795789;rs3795789	3372;3372	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	3372;3372;491;491;2219	ENSP00000284548:E3372D;ENSP00000409493:E3372D;ENSP00000355668:E491D;ENSP00000355670:E491D;ENSP00000352613:E2219D	ENSP00000284548:E3372D	E	+	3	2	OBSCN	226542989	0.195000	0.23338	0.215000	0.23724	0.333000	0.28666	0.401000	0.20948	1.121000	0.41925	0.561000	0.74099	GAG	G|0.927;T|0.073	0.073	strong		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228476366	G	T	228476366	3	4	22	1	0	0	0	0	1	0	0	0	10812	933	33	4	10262	4	OBSCN	1	228476366	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2407	228476366	20774255	1030	6138	127	2								
OBSCN	84033	hgsc.bcm.edu	37	chr1	228476367	228476367	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagactgagacaccaagagAgcatagaaggggccacagcc					rs386640016|rs3795790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228476367A>T	ENST00000422127.1	+	38	10161	c.10117A>T	c.(10117-10119)Agc>Tgc	p.S3373C	OBSCN_ENST00000359599.6_Missense_Mutation_p.S2220C|OBSCN_ENST00000284548.11_Missense_Mutation_p.S3373C|OBSCN_ENST00000570156.2_Missense_Mutation_p.S3802C|OBSCN_ENST00000366709.4_Missense_Mutation_p.S492C|OBSCN_ENST00000366707.4_Missense_Mutation_p.S492C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3373	Ig-like 34.		S -> C (in dbSNP:rs3795790).		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)				ACACCAAGAGAGCATAGAAGG	0.602													A|||	480	0.0958466	0.0514	0.0144	5008	,	,		20986	0.3165		0.0258	False		,,,				2504	0.0583				p.S3802C		Atlas-SNP	.											.	OBSCN	2142	.	0			c.A11404T						PASS	.	A	CYS/SER,CYS/SER	182,3930		8,166,1882	72	77	75		10117,10117	-1.3	0.1	1	dbSNP_107	75	119,8285		0,119,4083	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	112,112	8,285,5965	TT,TA,AA		1.416,4.4261,2.4049	benign,benign	3373/7969,3373/6621	228476367	301,12215	2056	4202	6258	SO:0001583	missense	84033	exon43			CAAGAGAGCATAG	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.10117A>T	1.37:g.228476367A>T	ENSP00000409493:p.Ser3373Cys	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	123	63	0.512195	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	37	CCDS58065.1	208	0.09523809523809523	17	0.034552845528455285	3	0.008287292817679558	167	0.291958041958042	21	0.027704485488126648	A	9.448	1.089846	0.20390	0.044261	0.01416	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	0.666	-1.33	0.09172	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.536026	0.14449	U	0.318939	T	0.00012	0.0000	N	0.20483	0.58	0.49483	P	2.0699999999995722E-4	P;B	0.52170	0.951;0.002	P;B	0.59115	0.852;0.008	T	0.15009	-1.0452	8	0.34782	T	0.22	.	.	.	.	rs3795790;rs60799870;rs3795790	3373;3373	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3373;3373;492;492;2220	ENSP00000284548:S3373C;ENSP00000409493:S3373C;ENSP00000355668:S492C;ENSP00000355670:S492C;ENSP00000352613:S2220C	ENSP00000284548:S3373C	S	+	1	0	OBSCN	226542990	0.124000	0.22315	0.095000	0.20976	0.198000	0.23893	0.791000	0.26915	-1.387000	0.02095	-0.608000	0.04076	AGC	A|0.887;T|0.113	0.113	strong		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228476367	A	T	228476367	3	4	22	1	0	0	0	0	1	0	0	0	10812	304	11	5	10263	5	OBSCN	1	228476367	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	228476367	20774254	1031	6139	127	2								
OBSCN	84033	hgsc.bcm.edu	37	chr1	228476414	228476414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgtgagctgagcaaggcGgcccccgtggagtggaggaa	19	9	0	2	rs3795791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228476414G>A	ENST00000422127.1	+	38	10208	c.10164G>A	c.(10162-10164)gcG>gcA	p.A3388A	OBSCN_ENST00000359599.6_Silent_p.A2235A|OBSCN_ENST00000284548.11_Silent_p.A3388A|OBSCN_ENST00000570156.2_Silent_p.A3817A|OBSCN_ENST00000366709.4_Silent_p.A507A|OBSCN_ENST00000366707.4_Silent_p.A507A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3388	Ig-like 34.				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)				TGAGCAAGGCGGCCCCCGTGG	0.627													G|||	470	0.0938498	0.0439	0.013	5008	,	,		20753	0.3175		0.0258	False		,,,				2504	0.0583				p.A3817A		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G11451A						PASS	.	G	,	193,3981		5,183,1899	88	97	94		10164,10164	-4.2	0	1	dbSNP_107	94	156,8232		0,156,4038	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	5,339,5937	AA,AG,GG		1.8598,4.6239,2.7782	,	3388/7969,3388/6621	228476414	349,12213	2087	4194	6281	SO:0001819	synonymous_variant	84033	exon43			CAAGGCGGCCCCC	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.10164G>A	1.37:g.228476414G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	186	85	0.456989	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.910;A|0.090	0.090	strong		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228476414	G	A	228476414	2	1	22	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228476414	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47	228476414	20774207	1032	6140										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228494696	228494696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgagccgggcgggtgcGagcgtggagtggcgcaaggg	23	8	0	1	rs4653939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228494696G>A	ENST00000422127.1	+	45	12065	c.12021G>A	c.(12019-12021)gcG>gcA	p.A4007A	OBSCN_ENST00000284548.11_Silent_p.A4007A|OBSCN_ENST00000570156.2_Silent_p.A4964A|OBSCN_ENST00000366709.4_Silent_p.A1126A|OBSCN_ENST00000366707.4_Silent_p.A1641A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4007	Ig-like 41.				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)				GGGCGGGTGCGAGCGTGGAGT	0.652													G|||	1545	0.308506	0.3714	0.2925	5008	,	,		20661	0.497		0.1869	False		,,,				2504	0.1656				p.A4964A		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G14892A						PASS	.	G	,	1627,2743		313,1001,871	40	48	45		12021,12021	-5.7	0	1	dbSNP_111	45	1661,6879		162,1337,2771	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	475,2338,3642	AA,AG,GG		19.4496,37.2311,25.4686	,	4007/7969,4007/6621	228494696	3288,9622	2185	4270	6455	SO:0001819	synonymous_variant	84033	exon56			GGGTGCGAGCGTG	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.12021G>A	1.37:g.228494696G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	269	269	1	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.667;A|0.333	0.333	strong		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228494696	G	A	228494696	2	1	22	1	0	0	0	0	0	0	0	1	10812	1045	37	1		1	OBSCN	1	228494696	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18282	228494696	20755925	1033	6141										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228496014	228496014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcggctgaagggcgtgacGcccgaggacgctggcactgt	17	12	0	2	rs876180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228496014G>A	ENST00000422127.1	+	47	12713	c.12669G>A	c.(12667-12669)acG>acA	p.T4223T	OBSCN_ENST00000284548.11_Silent_p.T4223T|OBSCN_ENST00000570156.2_Silent_p.T5180T|OBSCN_ENST00000366709.4_Silent_p.T1342T|OBSCN_ENST00000366707.4_Silent_p.T1857T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4223	Ig-like 43.				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)				AGGGCGTGACGCCCGAGGACG	0.637													G|||	1067	0.213059	0.32	0.2781	5008	,	,		18436	0.1825		0.161	False		,,,				2504	0.1074				p.T5180T		Atlas-SNP	.											OBSCN_ENST00000570156,NS,carcinoma,0,3	OBSCN	2142	3	0			c.G15540A						PASS	.	G	,	1355,2893		229,897,998	36	40	39		12669,12669	-12.1	0	1	dbSNP_86	39	1498,6956		141,1216,2870	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	370,2113,3868	AA,AG,GG		17.7194,31.8974,22.461	,	4223/7969,4223/6621	228496014	2853,9849	2124	4227	6351	SO:0001819	synonymous_variant	84033	exon58			CGTGACGCCCGAG	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.12669G>A	1.37:g.228496014G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	131	75	0.572519	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.776;A|0.224	0.224	strong		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228496014	G	A	228496014	2	1	22	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228496014	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1318	228496014	20754607	1034	6142										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504486	228504486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcatgcttcacctgcacGctcagcgaggcggtgcccgt	13	15	2	0	rs372827129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228504486G>A	ENST00000422127.1	+	51	13406	c.13362G>A	c.(13360-13362)acG>acA	p.T4454T	OBSCN_ENST00000284548.11_Silent_p.T4454T|OBSCN_ENST00000570156.2_Silent_p.T5411T|OBSCN_ENST00000366709.4_Silent_p.T1573T|OBSCN_ENST00000366707.4_Silent_p.T2088T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4454	Ig-like 46.				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)				TCACCTGCACGCTCAGCGAGG	0.672													g|||	36	0.0071885	0.0272	0.0	5008	,	,		15193	0.0		0.0	False		,,,				2504	0.0				p.T5411T		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G16233A						PASS	.		,	111,4087		0,111,1988	16	21	19		13362,13362	-0.1	0.1	1		19	0,8410		0,0,4205	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,111,6193	AA,AG,GG		0.0,2.6441,0.8804	,	4454/7969,4454/6621	228504486	111,12497	2099	4205	6304	SO:0001819	synonymous_variant	84033	exon62			CTGCACGCTCAGC	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.13362G>A	1.37:g.228504486G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	99	60	0.606061	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.	.	none		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504486	G	A	228504486	2	1	22	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228504486	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8472	228504486	20746135	1035	6143										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504591	228504591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgccgacggcagtcaccaCgccctactgctgcgcagcgc	11	19	1	0	rs61825301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228504591C>A	ENST00000422127.1	+	51	13511	c.13467C>A	c.(13465-13467)caC>caA	p.H4489Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.H4489Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.H5446Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.H1608Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.H2123Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4489	Ig-like 46.			H -> Q (in Ref. 1; CAC44768). {ECO:0000305}.	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)				GCAGTCACCACGCCCTACTGC	0.716													c|||	728	0.145367	0.121	0.2349	5008	,	,		14096	0.1518		0.159	False		,,,				2504	0.0941				p.H5446Q		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C16338A						PASS	.		GLN/HIS,GLN/HIS	675,3615		55,565,1525	9	14	12		13467,13467	0.2	0.1	1	dbSNP_129	12	1406,7004		118,1170,2917	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	24,24	173,1735,4442	AA,AC,CC		16.7182,15.7343,16.3858	probably-damaging,probably-damaging	4489/7969,4489/6621	228504591	2081,10619	2145	4205	6350	SO:0001583	missense	84033	exon62			TCACCACGCCCTA	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.13467C>A	1.37:g.228504591C>A	ENSP00000409493:p.His4489Gln	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	18	0.439024	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	37	CCDS58065.1	346	0.15842490842490842	50	0.1016260162601626	86	0.23756906077348067	87	0.1520979020979021	123	0.16226912928759896	c	12.44	1.937450	0.34189	0.157343	0.167182	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76968	-1.06;-1.06;0.09;0.6	5.41	0.187	0.15109	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.149471	0.46758	D	0.000266	T	0.00073	0.0002	L	0.59967	1.855	0.49130	P	2.4400000000002198E-4	D;D	0.76494	0.998;0.999	P;D	0.64042	0.835;0.921	T	0.16158	-1.0412	9	0.29301	T	0.29	.	9.7878	0.40686	0.0:0.5739:0.0:0.4261	rs61825301	4489;4489	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	4489;4489;2123;1608	ENSP00000284548:H4489Q;ENSP00000409493:H4489Q;ENSP00000355668:H2123Q;ENSP00000355670:H1608Q	ENSP00000284548:H4489Q	H	+	3	2	OBSCN	226571214	0.000000	0.05858	0.074000	0.20217	0.153000	0.21895	-0.722000	0.04958	-0.223000	0.09943	0.550000	0.68814	CAC	C|0.841;A|0.159	0.159	strong		0.716	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504591	C	A	228504591	3	1	22	1	0	0	0	0	1	0	0	0	10812	535	19	4	13665	4	OBSCN	1	228504591	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	105	228504591	20746030	1036	6144										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228505204	228505204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgctgaggtggtggctcGcagcagccacactgtgacac	15	11	0	2	rs4653942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228505204G>A	ENST00000422127.1	+	52	13645	c.13601G>A	c.(13600-13602)cGc>cAc	p.R4534H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4534H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5491H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1653H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2168H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4534	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs4653942). {ECO:0000269|PubMed:11448995}.		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)				GTGGTGGCTCGCAGCAGCCAC	0.657													g|||	1579	0.315296	0.3941	0.2954	5008	,	,		15262	0.499		0.1869	False		,,,				2504	0.1656				p.R5491H		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G16472A						PASS	.		HIS/ARG,HIS/ARG	1547,2561		304,939,811	28	32	31		13601,13601	2.4	0	1	dbSNP_111	31	1632,6764		158,1316,2724	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	29,29	462,2255,3535	AA,AG,GG		19.4378,37.6582,25.4239	probably-damaging,probably-damaging	4534/7969,4534/6621	228505204	3179,9325	2054	4198	6252	SO:0001583	missense	84033	exon63			TGGCTCGCAGCAG	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.13601G>A	1.37:g.228505204G>A	ENSP00000409493:p.Arg4534His	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	198	196	0.989899	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	37	CCDS58065.1	735	0.33653846153846156	188	0.3821138211382114	111	0.30662983425414364	288	0.5034965034965035	148	0.19525065963060687	g	13.05	2.120013	0.37436	0.376582	0.194378	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.42	2.36	0.29203	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.565277	0.16104	N	0.229422	T	0.00012	0.0000	L	0.28649	0.875	0.80722	P	0.0	P;D	0.64830	0.702;0.994	B;P	0.52672	0.295;0.706	T	0.44513	-0.9323	9	0.45353	T	0.12	.	2.8707	0.05616	0.3981:0.2307:0.3712:0.0	rs4653942;rs4653942	4534;4534	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4534;4534;2168;1653	ENSP00000284548:R4534H;ENSP00000409493:R4534H;ENSP00000355668:R2168H;ENSP00000355670:R1653H	ENSP00000284548:R4534H	R	+	2	0	OBSCN	226571827	0.043000	0.20138	0.007000	0.13788	0.029000	0.11900	1.330000	0.33781	1.099000	0.41499	0.479000	0.44913	CGC	G|0.671;A|0.329	0.329	strong		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228505204	G	A	228505204	3	1	22	1	0	0	0	0	1	0	0	0	10812	1087	38	1	13803	1	OBSCN	1	228505204	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	613	228505204	20745417	1037	6145										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228505739	228505739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatggagcgcatccagcccGgtgggcggttcgaggtggtc	18	10	0	0	rs3795801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228505739G>A	ENST00000422127.1	+	53	14040	c.13996G>A	c.(13996-13998)Ggt>Agt	p.G4666S	OBSCN_ENST00000284548.11_Missense_Mutation_p.G4666S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G5623S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1785S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2300S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4666	Ig-like 47.		G -> S (in dbSNP:rs3795801).		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)				CATCCAGCCCGGTGGGCGGTT	0.627													g|||	867	0.173123	0.2216	0.2435	5008	,	,		18063	0.1518		0.159	False		,,,				2504	0.0941				p.G5623S		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G16867A						PASS	.		SER/GLY,SER/GLY	1019,3243		112,795,1224	87	97	94		13996,13996	-5.4	0	1	dbSNP_107	94	1469,6999		133,1203,2898	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	245,1998,4122	AA,AG,GG		17.3477,23.909,19.5444	benign,benign	4666/7969,4666/6621	228505739	2488,10242	2131	4234	6365	SO:0001583	missense	84033	exon64			CAGCCCGGTGGGC	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.13996G>A	1.37:g.228505739G>A	ENSP00000409493:p.Gly4666Ser	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	257	124	0.48249	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	37	CCDS58065.1	393	0.17994505494505494	94	0.1910569105691057	89	0.24585635359116023	87	0.1520979020979021	123	0.16226912928759896	g	13.43	2.235989	0.39498	0.23909	0.173477	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.51	-5.37	0.02681	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.102050	0.06837	N	0.794996	T	0.00012	0.0000	N	0.17800	0.525	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.41484	-0.9506	9	0.07175	T	0.84	.	20.2526	0.98410	0.1567:0.0:0.8433:0.0	rs3795801;rs52803091;rs58512327;rs3795801	4666;4666	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	4666;4666;2300;1785	ENSP00000284548:G4666S;ENSP00000409493:G4666S;ENSP00000355668:G2300S;ENSP00000355670:G1785S	ENSP00000284548:G4666S	G	+	1	0	OBSCN	226572362	0.020000	0.18652	0.000000	0.03702	0.151000	0.21798	0.239000	0.18023	-1.559000	0.01688	-0.565000	0.04167	GGT	G|0.828;A|0.172	0.172	strong		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228505739	G	A	228505739	3	1	22	1	0	0	0	0	1	0	0	0	10812	1116	39	1	14202	1	OBSCN	1	228505739	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	535	228505739	20744882	1038	6146										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228509324	228509324	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccagcaaggcagatgtgCgagcccgctggctgaaggat	16	10	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228509324C>T	ENST00000422127.1	+	55	14826	c.14782C>T	c.(14782-14784)Cga>Tga	p.R4928*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R4928*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R5885*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R2047*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R2562*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4928	Ig-like 48.				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)				GGCAGATGTGCGAGCCCGCTG	0.637																																					p.R5885X		Atlas-SNP	.											OBSCN,NS,carcinoma,-1,1	OBSCN	2142	1	0			c.C17653T						scavenged	.						36	40	39					1																	228509324		2178	4270	6448	SO:0001587	stop_gained	84033	exon66			GATGTGCGAGCCC	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.14782C>T	1.37:g.228509324C>T	ENSP00000409493:p.Arg4928*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	117	2	0.017094	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	63	75.133045	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.34	3.26	0.37387	.	0.379769	0.23334	N	0.049310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	8.2366	0.31629	0.2663:0.6445:0.0:0.0891	.	.	.	.	X	4928;4928;2562;2047	.	ENSP00000284548:R4928X	R	+	1	2	OBSCN	226575947	0.759000	0.28416	0.148000	0.22405	0.153000	0.21895	1.280000	0.33202	1.265000	0.44215	-0.140000	0.14226	CGA	.	.	none		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228509324	C	T	228509324	4	4	22	1	0	0	0	0	0	1	0	0	10812	760	27	1	14996	1	OBSCN	1	228509324	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3585	228509324	20741297	1039	6147										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228526011	228526011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcacctgagtggggggcCgctgaggcccctgagttccc	15	14	1	3	rs11577699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228526011C>T	ENST00000422127.1	+	68	17066	c.17022C>T	c.(17020-17022)gcC>gcT	p.A5674A	OBSCN_ENST00000284548.11_Silent_p.A5674A|OBSCN_ENST00000570156.2_Silent_p.A6631A|OBSCN_ENST00000366709.4_Silent_p.A2793A|OBSCN_ENST00000366707.4_Silent_p.A3308A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5674					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)				AGTGGGGGGCCGCTGAGGCCC	0.642													C|||	589	0.117612	0.1006	0.1916	5008	,	,		16460	0.1091		0.1372	False		,,,				2504	0.0767				p.A6631A		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C19893T						PASS	.	C	,	525,3273		33,459,1407	20	26	24		17022,17022	-2.2	0	1	dbSNP_120	24	1296,6918		99,1098,2910	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	132,1557,4317	TT,TC,CC		15.7779,13.8231,15.1598	,	5674/7969,5674/6621	228526011	1821,10191	1899	4107	6006	SO:0001819	synonymous_variant	84033	exon79			GGGGGCCGCTGAG	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.17022C>T	1.37:g.228526011C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	273	0.125	40	0.08130081300813008	71	0.19613259668508287	54	0.0944055944055944	108	0.1424802110817942	C	4.625	0.116119	0.08831	0.138231	0.157779	ENSG00000154358	ENST00000441106	.	.	.	4.59	-2.15	0.07102	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.53688	P	2.4000000000024002E-5	.	.	.	.	.	.	T	0.24083	-1.0170	3	.	.	.	.	5.2594	0.15565	0.3755:0.2927:0.0:0.3318	rs11577699	.	.	.	C	290	.	.	R	+	1	0	OBSCN	226592634	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.668000	0.05268	-1.045000	0.03250	-1.579000	0.00862	CGC	C|0.879;T|0.121	0.121	strong		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228526011	C	T	228526011	2	4	22	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228526011	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16687	228526011	20724610	1040	6148										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228547511	228547511	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccacactgtatgtgacGgaggccgaggcccactctcc	12	15	1	1	rs115442906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228547511G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Silent_p.T6306T|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3425T|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				TGTATGTGACGGAGGCCGAGG	0.672													G|||	235	0.0469249	0.1573	0.0086	5008	,	,		16229	0.0149		0.002	False		,,,				2504	0.0041				p.T6306T		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G18918A						PASS	.	G	,	472,3526		20,432,1547	14	17	16		,18918	-9.1	0.3	1	dbSNP_132	16	20,8282		0,20,4131	no	intron,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	20,452,5678	AA,AG,GG		0.2409,11.8059,4.0	,	,6306/6621	228547511	492,11808	1999	4151	6150	SO:0001627	intron_variant	84033	exon81			TGTGACGGAGGCC	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.18662-2766G>A	1.37:g.228547511G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	121	66	0.545455	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.950;A|0.050	0.050	strong		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228547511	G	A	228547511	1	1	22	0	1	0	0	0	0	0	0	0	10812	1103	39	1		1	OBSCN	1	228547511	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21500	228547511	20703110	1041	6149										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228547691	228547691	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactgcccggtgcgaccccCggaggggaccccaattccaa	11	17	0	0	rs367920745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228547691C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Silent_p.P6366P|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.P3485P|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				GTGCGACCCCCGGAGGGGACC	0.647													C|||	36	0.0071885	0.0272	0.0	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.0				p.P6366P		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C19098T						PASS	.	C	,	82,3694		1,80,1807	17	20	19		,19098	-8.8	0	1		19	0,8218		0,0,4109	no	intron,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	1,80,5916	TT,TC,CC		0.0,2.1716,0.6837	,	,6366/6621	228547691	82,11912	1888	4109	5997	SO:0001627	intron_variant	84033	exon81			GACCCCCGGAGGG	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.18662-2586C>T	1.37:g.228547691C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	164	83	0.506098	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.	.	none		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228547691	C	T	228547691	1	4	22	0	1	0	0	0	0	0	0	0	10812	639	23	1		1	OBSCN	1	228547691	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180	228547691	20702930	1042	6150										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228559225	228559225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcgctgccaggcctgcgcGagccactgatggagcaccgc	16	15	0	1	rs200269110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228559225G>A	ENST00000422127.1	+	94	20790	c.20746G>A	c.(20746-20748)Gag>Aag	p.E6916K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E7873K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4550K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6916					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)				AGGCCTGCGCGAGCCACTGAT	0.746													G|||	34	0.00678914	0.0257	0.0	5008	,	,		12917	0.0		0.0	False		,,,				2504	0.0				p.E7873K		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G23617A						PASS	.	G	LYS/GLU	70,3774		0,70,1852	5	9	8		20746	4.4	0.9	1		8	0,8116		0,0,4058	yes	missense	OBSCN	NM_001098623.1	56	0,70,5910	AA,AG,GG		0.0,1.821,0.5853	benign	6916/7969	228559225	70,11890	1922	4058	5980	SO:0001583	missense	84033	exon105			CTGCGCGAGCCAC	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.20746G>A	1.37:g.228559225G>A	ENSP00000409493:p.Glu6916Lys	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	20	8	0.4	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	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368034|3.368034	0.61513|0.61513	0.01821|0.01821	0.0|0.0	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|T	0.65549|0.72394	-0.16;-0.1|-0.65	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|.	.|.	.|.	.|.	T|T	0.64068|0.64068	0.2565|0.2565	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.72301|0.72301	-0.4334|-0.4334	9|7	0.40728|0.41790	T|T	0.16|0.15	.|.	17.2084|17.2084	0.86924|0.86924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6916|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6916;4550|1532	ENSP00000409493:E6916K;ENSP00000355668:E4550K|ENSP00000388554:R1532Q	ENSP00000355668:E4550K|ENSP00000388554:R1532Q	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226625848|226625848	0.999000|0.999000	0.42202|0.42202	0.931000|0.931000	0.37212|0.37212	0.040000|0.040000	0.13550|0.13550	2.926000|2.926000	0.48892|0.48892	2.300000|2.300000	0.77407|0.77407	0.555000|0.555000	0.69702|0.69702	GAG|CGA	.	.	weak		0.746	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228559225	G	A	228559225	3	1	22	1	0	0	0	0	1	0	0	0	10812	1059	37	1	22326	1	OBSCN	1	228559225	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11534	228559225	20691396	1043	6151										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228559994	228559994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcggcctcaggaacaggCgaccatgcgcaagttctccc	12	15	2	0	rs500049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228559994C>T	ENST00000422127.1	+	94	21559	c.21515C>T	c.(21514-21516)gCg>gTg	p.A7172V	OBSCN_ENST00000570156.2_Missense_Mutation_p.A8129V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A4806V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7172			A -> V (in dbSNP:rs500049). {ECO:0000269|PubMed:10997877}.		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)				CAGGAACAGGCGACCATGCGC	0.672													C|||	2950	0.589058	0.708	0.389	5008	,	,		17715	0.5625		0.504	False		,,,				2504	0.6851				p.A8129V		Atlas-SNP	.											OBSCN_ENST00000570156,NS,carcinoma,0,2	OBSCN	2142	2	0			c.C24386T						PASS	.	C	VAL/ALA	2727,1409		914,899,255	13	15	14		21515	3.7	0.6	1	dbSNP_83	14	4210,4154		1110,1990,1082	yes	missense	OBSCN	NM_001098623.1	64	2024,2889,1337	TT,TC,CC		49.6652,34.0667,44.504	possibly-damaging	7172/7969	228559994	6937,5563	2068	4182	6250	SO:0001583	missense	84033	exon105			AACAGGCGACCAT	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.21515C>T	1.37:g.228559994C>T	ENSP00000409493:p.Ala7172Val	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	206	101	0.490291	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	37	CCDS58065.1	1222	0.5595238095238095	364	0.7398373983739838	155	0.4281767955801105	324	0.5664335664335665	379	0.5	C	13.96	2.391908	0.42410	0.659333	0.503348	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63913	-0.02;-0.07	4.63	3.71	0.42584	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.26078	P	0.9811296	B	0.11235	0.004	B	0.08055	0.003	T	0.41875	-0.9484	8	0.02654	T	1	.	11.6121	0.51066	0.0:0.9061:0.0:0.0939	rs500049;rs827831;rs1697612;rs500049	7172	Q5VST9	OBSCN_HUMAN	V	7172;4806	ENSP00000409493:A7172V;ENSP00000355668:A4806V	ENSP00000355668:A4806V	A	+	2	0	OBSCN	226626617	0.008000	0.16893	0.588000	0.28705	0.035000	0.12851	2.164000	0.42387	0.587000	0.29643	-1.164000	0.01763	GCG	C|0.427;T|0.573	0.573	strong		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228559994	C	T	228559994	3	4	22	1	0	0	0	0	1	0	0	0	10812	768	27	1	23095	1	OBSCN	1	228559994	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	769	228559994	20690627	1044	6152										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228560181	228560181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagggctgagtcccagtcGgaggagcagcaggaggccag	18	11	0	1	rs62640372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228560181G>A	ENST00000422127.1	+	94	21746	c.21702G>A	c.(21700-21702)tcG>tcA	p.S7234S	OBSCN_ENST00000570156.2_Silent_p.S8191S|OBSCN_ENST00000366707.4_Silent_p.S4868S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7234					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)				AGTCCCAGTCGGAGGAGCAGC	0.692													G|||	32	0.00638978	0.0227	0.0014	5008	,	,		15712	0.001		0.0	False		,,,				2504	0.0				p.S8191S		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G24573A						PASS	.	G		93,4067		0,93,1987	13	16	15		21702	-2.1	0.6	1	dbSNP_129	15	0,8404		0,0,4202	no	coding-synonymous	OBSCN	NM_001098623.1		0,93,6189	AA,AG,GG		0.0,2.2356,0.7402		7234/7969	228560181	93,12471	2080	4202	6282	SO:0001819	synonymous_variant	84033	exon105			CCAGTCGGAGGAG	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.21702G>A	1.37:g.228560181G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	92	44	0.478261	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	6.630	0.484618	0.12641	0.022356	0.0	ENSG00000154358	ENST00000441106	.	.	.	1.05	-2.1	0.07210	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	2.4475	0.04509	0.0:0.253:0.2936:0.4534	rs62640372	.	.	.	R	1851	.	.	G	+	1	0	OBSCN	226626804	0.013000	0.17824	0.600000	0.28864	0.363000	0.29612	-0.971000	0.03806	0.119000	0.18210	0.121000	0.15741	GGA	G|0.996;A|0.004	0.004	strong		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228560181	G	A	228560181	2	1	22	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228560181	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	187	228560181	20690440	1045	6153										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228560700	228560700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggcacctgccgctggaTgagcctgcagagctggggct	18	11	0	2	rs512253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228560700T>C	ENST00000422127.1	+	94	22265	c.22221T>C	c.(22219-22221)gaT>gaC	p.D7407D	OBSCN_ENST00000570156.2_Silent_p.D8364D|OBSCN_ENST00000366707.4_Silent_p.D5041D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7407					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)				TGCCGCTGGATGAGCCTGCAG	0.677													C|||	3796	0.757987	0.9365	0.6398	5008	,	,		15865	0.752		0.5636	False		,,,				2504	0.8067				p.D8364D		Atlas-SNP	.											OBSCN_ENST00000570156,rectum,carcinoma,0,5	OBSCN	2142	5	0			c.T25092C						PASS	.	C		3642,576		1602,438,69	16	22	20		22221	-7.7	0.1	1	dbSNP_83	20	4624,3806		1316,1992,907	no	coding-synonymous	OBSCN	NM_001098623.1		2918,2430,976	CC,CT,TT		45.1483,13.6558,34.6458		7407/7969	228560700	8266,4382	2109	4215	6324	SO:0001819	synonymous_variant	84033	exon105			GCTGGATGAGCCT	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.22221T>C	1.37:g.228560700T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	63	62	0.984127	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436557	0.12104	0.863442	0.548517	ENSG00000154358	ENST00000441106	.	.	.	5.31	-7.65	0.01281	.	.	.	.	.	.	.	.	.	.	.	0.26408	P	0.9763186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4422	0.16515	0.1714:0.5044:0.1553:0.1689	rs512253;rs3795815	.	.	.	R	2024	.	.	X	+	1	0	OBSCN	226627323	0.942000	0.31987	0.072000	0.20136	0.009000	0.06853	-0.247000	0.08866	-1.794000	0.01256	-3.149000	0.00058	TGA	T|0.442;C|0.558	0.558	strong		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228560700	T	C	228560700	2	2	22	1	0	0	0	0	0	0	0	1	10812	1461	51	2		2	OBSCN	1	228560700	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	519	228560700	20689921	1046	6154										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228565325	228565325	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaccgaatacaacctgctCaaggtcgtggacctgggcaa	10	12	2	0	rs61743077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228565325C>T	ENST00000422127.1	+	102	23459	c.23415C>T	c.(23413-23415)ctC>ctT	p.L7805L	OBSCN_ENST00000570156.2_Silent_p.L8762L|OBSCN_ENST00000366707.4_Silent_p.L5439L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7805	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)				ACAACCTGCTCAAGGTCGTGG	0.562													C|||	54	0.0107827	0.0386	0.0029	5008	,	,		21756	0.0		0.001	False		,,,				2504	0.0				p.L8762L		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C26286T						PASS	.	C		187,4189		1,185,2002	95	97	96		23415	-2.4	0.9	1	dbSNP_129	96	0,8542		0,0,4271	no	coding-synonymous	OBSCN	NM_001098623.1		1,185,6273	TT,TC,CC		0.0,4.2733,1.4476		7805/7969	228565325	187,12731	2188	4271	6459	SO:0001819	synonymous_variant	84033	exon113			CCTGCTCAAGGTC	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.23415C>T	1.37:g.228565325C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	170	94	0.552941	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	C	15.09	2.729743	0.48833	0.042733	0.0	ENSG00000154358	ENST00000441106	.	.	.	5.14	-2.38	0.06622	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2	0.31419	0.0:0.1855:0.4897:0.3248	rs61743077	.	.	.	X	2422	.	.	Q	+	1	0	OBSCN	226631948	0.995000	0.38212	0.873000	0.34254	0.884000	0.51177	0.219000	0.17641	-0.368000	0.08040	0.313000	0.20887	CAA	C|0.992;T|0.008	0.008	strong		0.562	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228565325	C	T	228565325	2	4	22	1	0	0	0	0	0	0	0	1	10812	813	29	2		2	OBSCN	1	228565325	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4625	228565325	20685296	1047	6155										
TRIM17	51127	hgsc.bcm.edu	37	chr1	228601506	228601506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcacccacctgccactCggctaagctctgctcctccc	8	20	1	0	rs116188608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228601506C>T	ENST00000366697.2	-	2	1473	c.517G>A	c.(517-519)Gag>Aag	p.E173K	TRIM17_ENST00000295033.3_Missense_Mutation_p.E173K|TRIM17_ENST00000456946.2_Missense_Mutation_p.E173K|TRIM17_ENST00000366698.2_Missense_Mutation_p.E173K			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	173					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACCTGCCACTCGGCTAAGCTC	0.607													C|||	54	0.0107827	0.0378	0.0043	5008	,	,		16452	0.0		0.001	False		,,,				2504	0.0				p.E173K		Atlas-SNP	.											.	TRIM17	66	.	0			c.G517A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU	193,4213	121.3+/-158.8	1,191,2011	120	90	100		517,517,517	1.6	0.1	1	dbSNP_132	100	0,8600		0,0,4300	yes	missense,missense,missense	TRIM17	NM_001024940.2,NM_001134855.1,NM_016102.3	56,56,56	1,191,6311	TT,TC,CC		0.0,4.3804,1.4839	benign,benign,benign	173/478,173/344,173/478	228601506	193,12813	2203	4300	6503	SO:0001583	missense	51127	exon3			GCCACTCGGCTAA	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.517G>A	1.37:g.228601506C>T	ENSP00000355658:p.Glu173Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	109	44	0.40367	NM_001024940	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	C	0.010	-1.780416	0.00634	0.043804	0.0	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.18810	3.58;3.58;3.58;3.58;3.58;2.19	3.5	1.56	0.23342	.	0.000000	0.38663	N	0.001611	T	0.03520	0.0101	M	0.66939	2.045	0.09310	N	1	B;B	0.20550	0.046;0.004	B;B	0.17433	0.018;0.002	T	0.30149	-0.9988	10	0.08599	T	0.76	.	4.9406	0.13963	0.0:0.6631:0.2166:0.1203	.	173;173	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	K	173;173;173;173;146;173	ENSP00000355658:E173K;ENSP00000355659:E173K;ENSP00000295033:E173K;ENSP00000403312:E173K;ENSP00000430468:E146K;ENSP00000347794:E173K	ENSP00000295033:E173K	E	-	1	0	TRIM17	226668129	0.008000	0.16893	0.143000	0.22291	0.036000	0.12997	0.247000	0.18179	0.452000	0.26830	-0.254000	0.11334	GAG	C|0.986;T|0.014	0.014	strong		0.607	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		T	228601506	C	T	228601506	3	4	22	1	0	0	0	0	1	0	0	0	16490	893	31	1	1085	1	TRIM17	1	228601506	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36181	228601506	20649115	1048	6156										
HIST3H3	8290	hgsc.bcm.edu	37	chr1	228612934	228612934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcacgccgccagtggcAggtgcgctcttgcgagccac	12	15	3	0	rs61740979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228612934A>G	ENST00000366696.1	-	1	92	c.93T>C	c.(91-93)ccT>ccC	p.P31P		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	31					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CGCCAGTGGCAGGTGCGCTCT	0.667													g|||	80	0.0159744	0.0567	0.0058	5008	,	,		13386	0.0		0.001	False		,,,				2504	0.0				p.P31P		Atlas-SNP	.											.	HIST3H3	20	.	0			c.T93C						PASS	.	C		240,4162		1,238,1962	36	43	41		93	-6.5	0	1	dbSNP_129	41	0,8594		0,0,4297	no	coding-synonymous	HIST3H3	NM_003493.2		1,238,6259	GG,GA,AA		0.0,5.4521,1.8467		31/137	228612934	240,12756	2201	4297	6498	SO:0001819	synonymous_variant	8290	exon1			AGTGGCAGGTGCG	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.93T>C	1.37:g.228612934A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	64	24	0.375	NM_003493	B2R5K3|Q6FGU4	Silent	SNP	ENST00000366696.1	37	CCDS1572.1																																																																																			A|0.981;G|0.019	0.019	strong		0.667	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		G	228612934	A	G	228612934	2	3	22	1	0	0	0	0	0	0	0	1	7184	175	7	3		3	HIST3H3	1	228612934	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11428	228612934	20637687	1049	6157										
HIST3H3	8290	hgsc.bcm.edu	37	chr1	228612994	228612994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcggcgccttgccacccgtTgacttgcgcgcagtctgctt	12	16	1	1	rs61741017	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:228612994T>C	ENST00000366696.1	-	1	32	c.33A>G	c.(31-33)tcA>tcG	p.S11S		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	11					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGCCACCCGTTGACTTGCGCG	0.652													c|||	80	0.0159744	0.0567	0.0058	5008	,	,		14474	0.0		0.001	False		,,,				2504	0.0				p.S11S		Atlas-SNP	.											.	HIST3H3	20	.	0			c.A33G						PASS	.	C		249,4147	735.3+/-410.7	1,247,1950	42	50	47		33	-7.2	0	1	dbSNP_129	47	0,8592		0,0,4296	no	coding-synonymous	HIST3H3	NM_003493.2		1,247,6246	CC,CT,TT		0.0,5.6642,1.9172		11/137	228612994	249,12739	2198	4296	6494	SO:0001819	synonymous_variant	8290	exon1			ACCCGTTGACTTG	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.33A>G	1.37:g.228612994T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	143	64	0.447552	NM_003493	B2R5K3|Q6FGU4	Silent	SNP	ENST00000366696.1	37	CCDS1572.1																																																																																			T|0.984;C|0.016	0.016	strong		0.652	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		C	228612994	T	C	228612994	2	2	22	1	0	0	0	0	0	0	0	1	7184	1799	63	2		2	HIST3H3	1	228612994	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60	228612994	20637627	1050	6158										
RAB4A	5867	hgsc.bcm.edu	37	chr1	229431613	229431613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtccgtgacgagaagttaTtaccgaggcgcggccggggc	17	10	0	2	rs114366150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229431613T>C	ENST00000366690.4	+	4	454	c.246T>C	c.(244-246)taT>taC	p.Y82Y	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	82					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAGAAGTTATTACCGAGGCG	0.522													T|||	9	0.00179712	0.0053	0.0029	5008	,	,		18011	0.0		0.0	False		,,,				2504	0.0				p.Y82Y	Esophageal Squamous(11;250 603 9619 16563)	Atlas-SNP	.											.	RAB4A	29	.	0			c.T246C						PASS	.	T		34,4372	39.2+/-71.8	0,34,2169	76	78	77		246	-5.4	0.8	1	dbSNP_132	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB4A	NM_004578.2		0,35,6468	CC,CT,TT		0.0116,0.7717,0.2691		82/219	229431613	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	5867	exon4			AAGTTATTACCGA	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.246T>C	1.37:g.229431613T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_004578	Q5T7P7|Q9BQ44	Silent	SNP	ENST00000366690.4	37	CCDS31050.1																																																																																			T|0.998;C|0.002	0.002	strong		0.522	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		C	229431613	T	C	229431613	2	2	22	1	0	0	0	0	0	0	0	1	12946	1500	52	2		2	RAB4A	1	229431613	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	818619	229431613	19819008	1051	6159										
ACTA1	58	hgsc.bcm.edu	37	chr1	229567384	229567384	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttgcgctccggcggggcGatgatctgcaagacagcgcg	15	11	1	2	rs74897770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229567384G>T	ENST00000366684.3	-	7	1098	c.996C>A	c.(994-996)atC>atA	p.I332I	ACTA1_ENST00000366683.2_Silent_p.I244I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	332					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCGGCGGGGCGATGATCTGCA	0.652													G|||	99	0.0197684	0.0734	0.0014	5008	,	,		13992	0.0		0.001	False		,,,				2504	0.0				p.I332I		Atlas-SNP	.											.	ACTA1	65	.	0			c.C996A						PASS	.	G		253,4153	146.5+/-181.1	10,233,1960	85	86	86		996	0.8	1	1	dbSNP_131	86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTA1	NM_001100.3		10,235,6258	TT,TG,GG		0.0233,5.7422,1.9606		332/378	229567384	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	58	exon7			CGGGGCGATGATC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.996C>A	1.37:g.229567384G>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_001100	P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	CCDS1578.1																																																																																			G|0.982;T|0.018	0.018	strong		0.652	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		T	229567384	G	T	229567384	2	4	22	1	0	0	0	0	0	0	0	1	191	1048	37	4		4	ACTA1	1	229567384	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	135771	229567384	19683237	1052	6160										
NUP133	55746	hgsc.bcm.edu	37	chr1	229622162	229622162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgctaaagacccttccaAgtcttctgccaatatagaca	6	11	2	3	rs1065675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229622162A>G	ENST00000261396.3	-	11	1547	c.1456T>C	c.(1456-1458)Ttg>Ctg	p.L486L	NUP133_ENST00000537506.1_Silent_p.L470L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	486					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L486L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACCCTTCCAAGTCTTCTGCC	0.378													G|||	1521	0.303714	0.5809	0.3285	5008	,	,		19446	0.1607		0.2097	False		,,,				2504	0.1554				p.L486L		Atlas-SNP	.											NUP133,NS,carcinoma,0,1	NUP133	111	1	1	Substitution - coding silent(1)	stomach(1)	c.T1456C						PASS	.	G		2316,2090	569.8+/-382.7	600,1116,487	105	110	108		1456	-1.6	0.1	1	dbSNP_86	108	1864,6736	729.8+/-406.7	201,1462,2637	no	coding-synonymous	NUP133	NM_018230.2		801,2578,3124	GG,GA,AA		21.6744,47.4353,32.139		486/1157	229622162	4180,8826	2203	4300	6503	SO:0001819	synonymous_variant	55746	exon11			CTTCCAAGTCTTC		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1456T>C	1.37:g.229622162A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																			A|0.690;G|0.310	0.310	strong		0.378	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		G	229622162	A	G	229622162	2	3	22	1	0	0	0	0	0	0	0	1	10754	69	3	3		3	NUP133	1	229622162	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	54778	229622162	19628459	1053	6161										
NUP133	55746	hgsc.bcm.edu	37	chr1	229622236	229622236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttctagaaaaaatgataGgaacaccaccacaggcacca	7	10	1	2	rs35442997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229622236G>A	ENST00000261396.3	-	11	1473	c.1382C>T	c.(1381-1383)cCt>cTt	p.P461L	NUP133_ENST00000537506.1_Missense_Mutation_p.P445L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	461					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAAATGATAGGAACACCACC	0.368													G|||	50	0.00998403	0.0325	0.0043	5008	,	,		17685	0.0		0.002	False		,,,				2504	0.002				p.P461L		Atlas-SNP	.											.	NUP133	111	.	0			c.C1382T						PASS	.	G	LEU/PRO	141,4265	99.8+/-138.5	4,133,2066	92	93	93		1382	4.3	0.5	1	dbSNP_126	93	4,8596	4.3+/-15.6	0,4,4296	yes	missense	NUP133	NM_018230.2	98	4,137,6362	AA,AG,GG		0.0465,3.2002,1.1149	benign	461/1157	229622236	145,12861	2203	4300	6503	SO:0001583	missense	55746	exon11			ATGATAGGAACAC		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1382C>T	1.37:g.229622236G>A	ENSP00000261396:p.Pro461Leu	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	176	74	0.420455	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	23	0.010531135531135532	22	0.044715447154471545	0	0.0	0	0.0	1	0.0013192612137203166	G	18.11	3.549917	0.65311	0.032002	4.65E-4	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.40225	1.04;1.04;1.04	5.21	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);	0.251116	0.47093	N	0.000247	T	0.14442	0.0349	M	0.65975	2.015	0.80722	D	1	P	0.47841	0.901	P	0.45276	0.475	T	0.15435	-1.0437	10	0.11485	T	0.65	-6.4934	13.9867	0.64339	0.0737:0.0:0.9263:0.0	rs35442997	461	Q8WUM0	NU133_HUMAN	L	461;461;461;445	ENSP00000261396:P461L;ENSP00000355640:P461L;ENSP00000443496:P445L	ENSP00000261396:P461L	P	-	2	0	NUP133	227688859	1.000000	0.71417	0.535000	0.28026	0.989000	0.77384	6.520000	0.73773	1.321000	0.45227	0.467000	0.42956	CCT	G|0.990;A|0.010	0.010	strong		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		A	229622236	G	A	229622236	3	1	22	1	0	0	0	0	1	0	0	0	10754	1000	35	2	2152	2	NUP133	1	229622236	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74	229622236	19628385	1054	6162										
NUP133	55746	hgsc.bcm.edu	37	chr1	229623338	229623338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagtttgggaccgtcaacTgacacaaaatcaggtcttca	8	9	4	1	rs1065674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229623338T>C	ENST00000261396.3	-	10	1308	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R	NUP133_ENST00000537506.1_Missense_Mutation_p.Q390R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	406			Q -> R (in dbSNP:rs1065674).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACCGTCAACTGACACAAAAT	0.338													C|||	1519	0.303315	0.5802	0.3271	5008	,	,		16738	0.1607		0.2097	False		,,,				2504	0.1554				p.Q406R		Atlas-SNP	.											.	NUP133	111	.	0			c.A1217G						PASS	.	C	ARG/GLN	2321,2085	571.2+/-383.0	600,1121,482	83	85	84		1217	2.2	0.4	1	dbSNP_86	84	1863,6737	729.6+/-406.7	201,1461,2638	yes	missense	NUP133	NM_018230.2	43	801,2582,3120	CC,CT,TT		21.6628,47.3218,32.1698	benign	406/1157	229623338	4184,8822	2203	4300	6503	SO:0001583	missense	55746	exon10			GTCAACTGACACA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1217A>G	1.37:g.229623338T>C	ENSP00000261396:p.Gln406Arg	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	612	0.2802197802197802	275	0.5589430894308943	100	0.27624309392265195	80	0.13986013986013987	157	0.20712401055408972	C	0.017	-1.505721	0.00992	0.526782	0.216628	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.35605	1.3;1.3;1.3	5.07	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.167226	0.56097	N	0.000039	T	0.00012	0.0000	N	0.01015	-1.05	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	9	0.02654	T	1	-5.5753	9.3235	0.37980	0.0:0.583:0.0:0.417	rs1065674;rs17355666;rs60689296;rs1065674	406	Q8WUM0	NU133_HUMAN	R	406;406;406;390	ENSP00000261396:Q406R;ENSP00000355640:Q406R;ENSP00000443496:Q390R	ENSP00000261396:Q406R	Q	-	2	0	NUP133	227689961	0.910000	0.30920	0.355000	0.25773	0.580000	0.36256	1.748000	0.38308	0.029000	0.15352	-1.952000	0.00485	CAG	T|0.691;C|0.309	0.309	strong		0.338	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		C	229623338	T	C	229623338	3	2	22	1	0	0	0	0	1	0	0	0	10754	1580	55	3	2321	3	NUP133	1	229623338	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1102	229623338	19627283	1055	6163										
NUP133	55746	hgsc.bcm.edu	37	chr1	229631734	229631734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctaattcccatttactgaTgtttgaactcgtcaggctat	6	9	2	2	rs11805194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229631734T>C	ENST00000261396.3	-	7	971	c.880A>G	c.(880-882)Atc>Gtc	p.I294V	NUP133_ENST00000537506.1_Missense_Mutation_p.I278V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	294			I -> V (in dbSNP:rs11805194).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I294V(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CATTTACTGATGTTTGAACTC	0.368													T|||	1062	0.212061	0.2617	0.3012	5008	,	,		18607	0.1577		0.2068	False		,,,				2504	0.1431				p.I294V		Atlas-SNP	.											NUP133,NS,carcinoma,0,1	NUP133	111	1	1	Substitution - Missense(1)	stomach(1)	c.A880G						PASS	.	T	VAL/ILE	1097,3309	392.1+/-328.4	134,829,1240	104	100	101		880	1.7	1	1	dbSNP_120	101	1818,6782	324.6+/-316.5	191,1436,2673	yes	missense	NUP133	NM_018230.2	29	325,2265,3913	CC,CT,TT		21.1395,24.8979,22.4127	benign	294/1157	229631734	2915,10091	2203	4300	6503	SO:0001583	missense	55746	exon7			TACTGATGTTTGA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.880A>G	1.37:g.229631734T>C	ENSP00000261396:p.Ile294Val	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	451	0.2065018315018315	122	0.24796747967479674	93	0.2569060773480663	80	0.13986013986013987	156	0.20580474934036938	T	12.64	1.999786	0.35320	0.248979	0.211395	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.60424	0.19;0.19;0.19	5.57	1.67	0.24075	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.164275	0.52532	D	0.000067	T	0.00012	0.0000	L	0.41236	1.265	0.31397	P	0.677155	B	0.06786	0.001	B	0.06405	0.002	T	0.11155	-1.0599	9	0.30854	T	0.27	-22.3481	3.4333	0.07436	0.0942:0.1504:0.1651:0.5903	rs11805194;rs17756650;rs52814082;rs61334161;rs11805194	294	Q8WUM0	NU133_HUMAN	V	294;294;294;278	ENSP00000261396:I294V;ENSP00000355640:I294V;ENSP00000443496:I278V	ENSP00000261396:I294V	I	-	1	0	NUP133	227698357	0.960000	0.32886	0.982000	0.44146	0.917000	0.54804	0.306000	0.19279	0.408000	0.25621	0.528000	0.53228	ATC	C|0.213;N|0.000	0.213	strong		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		C	229631734	T	C	229631734	3	2	22	1	0	0	0	0	1	0	0	0	10754	1464	51	2	2670	2	NUP133	1	229631734	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8396	229631734	19618887	1056	6164										
NUP133	55746	hgsc.bcm.edu	37	chr1	229635521	229635521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccagcaaggcttggccaAtagcggatagatccttctct	9	12	2	1	rs10916495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229635521A>G	ENST00000261396.3	-	5	649	c.558T>C	c.(556-558)taT>taC	p.Y186Y	NUP133_ENST00000537506.1_Silent_p.Y170Y|NUP133_ENST00000366678.3_Silent_p.Y186Y	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	186					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.Y186Y(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCTTGGCCAATAGCGGATAG	0.453													A|||	883	0.176318	0.1369	0.2896	5008	,	,		17612	0.1577		0.2028	False		,,,				2504	0.1411				p.Y186Y		Atlas-SNP	.											NUP133,NS,carcinoma,0,1	NUP133	111	1	1	Substitution - coding silent(1)	stomach(1)	c.T558C						PASS	.	A		650,3756	276.0+/-272.9	50,550,1603	94	91	92		558	-2.6	1	1	dbSNP_120	92	1811,6789	325.4+/-316.9	190,1431,2679	no	coding-synonymous	NUP133	NM_018230.2		240,1981,4282	GG,GA,AA		21.0581,14.7526,18.922		186/1157	229635521	2461,10545	2203	4300	6503	SO:0001819	synonymous_variant	55746	exon5			TGGCCAATAGCGG		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.558T>C	1.37:g.229635521A>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	128	74	0.578125	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																			A|0.813;G|0.187	0.187	strong		0.453	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		G	229635521	A	G	229635521	2	3	22	1	0	0	0	0	0	0	0	1	10754	108	4	2		2	NUP133	1	229635521	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3787	229635521	19615100	1057	6165										
NUP133	55746	hgsc.bcm.edu	37	chr1	229636561	229636561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagagccactaagtcggcaCtccagtggaaatcactaggt	10	10	1	1	rs75411588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229636561C>T	ENST00000261396.3	-	4	546	c.455G>A	c.(454-456)aGt>aAt	p.S152N	NUP133_ENST00000537506.1_Missense_Mutation_p.S136N|NUP133_ENST00000366678.3_Missense_Mutation_p.S152N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	152					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAGTCGGCACTCCAGTGGAA	0.388													C|||	163	0.0325479	0.1135	0.0115	5008	,	,		19355	0.0		0.003	False		,,,				2504	0.002				p.S152N		Atlas-SNP	.											.	NUP133	111	.	0			c.G455A						PASS	.	C	ASN/SER	400,4006	198.4+/-222.2	12,376,1815	59	58	58		455	2	0.7	1	dbSNP_131	58	7,8593	6.4+/-24.3	0,7,4293	yes	missense	NUP133	NM_018230.2	46	12,383,6108	TT,TC,CC		0.0814,9.0785,3.1293	benign	152/1157	229636561	407,12599	2203	4300	6503	SO:0001583	missense	55746	exon4			TCGGCACTCCAGT		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.455G>A	1.37:g.229636561C>T	ENSP00000261396:p.Ser152Asn	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	77	38	0.493506	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	46	0.021062271062271064	42	0.08536585365853659	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	9.530	1.110704	0.20714	0.090785	8.14E-4	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.93	1.98	0.26296	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.372720	0.33813	N	0.004533	T	0.00524	0.0017	L	0.32530	0.975	0.47214	D	0.999358	B	0.09022	0.002	B	0.08055	0.003	T	0.21042	-1.0257	10	0.16420	T	0.52	-7.1368	6.2296	0.20728	0.0:0.558:0.1243:0.3178	.	152	Q8WUM0	NU133_HUMAN	N	152;152;152;136;152	ENSP00000261396:S152N;ENSP00000355640:S152N;ENSP00000443496:S136N;ENSP00000355639:S152N	ENSP00000261396:S152N	S	-	2	0	NUP133	227703184	0.996000	0.38824	0.673000	0.29887	0.384000	0.30261	0.731000	0.26058	0.845000	0.35118	0.557000	0.71058	AGT	C|0.972;T|0.028	0.028	strong		0.388	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229636561	C	T	229636561	3	4	22	1	0	0	0	0	1	0	0	0	10754	565	20	2	3107	2	NUP133	1	229636561	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1040	229636561	19614060	1058	6166										
ABCB10	23456	hgsc.bcm.edu	37	chr1	229683264	229683264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatcatactgatgcctacGgaagcctgggccccggccct	10	16	1	1	rs3738187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229683264G>A	ENST00000344517.4	-	3	945	c.903C>T	c.(901-903)tcC>tcT	p.S301S	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	301	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TGATGCCTACGGAAGCCTGGG	0.587													A|||	1515	0.302516	0.5696	0.3285	5008	,	,		18047	0.1627		0.2097	False		,,,				2504	0.1626				p.S301S		Atlas-SNP	.											.	ABCB10	71	.	0			c.C903T						PASS	.	A		2318,2088	567.3+/-382.1	594,1130,479	37	41	40		903	-10.7	0	1	dbSNP_107	40	1867,6733	726.8+/-406.6	204,1459,2637	no	coding-synonymous	ABCB10	NM_012089.2		798,2589,3116	AA,AG,GG		21.7093,47.3899,32.1775		301/739	229683264	4185,8821	2203	4300	6503	SO:0001819	synonymous_variant	23456	exon3			GCCTACGGAAGCC	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.903C>T	1.37:g.229683264G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_012089	Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	CCDS1580.1																																																																																			G|0.690;A|0.310	0.310	strong		0.587	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		A	229683264	G	A	229683264	2	1	22	1	0	0	0	0	0	0	0	1	41	1103	39	1		1	ABCB10	1	229683264	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46703	229683264	19567357	1059	6167										
TAF5L	27097	hgsc.bcm.edu	37	chr1	229750089	229750089	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgagcccccaccattaccTgttagattggccgccatctc	8	16	1	1	rs144626601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229750089T>C	ENST00000366676.1	-	1	140	c.141A>G	c.(139-141)acA>acG	p.T47T	TAF5L_ENST00000366675.3_Splice_Site_p.T47T|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Silent_p.T47T|TAF5L_ENST00000258281.2_Splice_Site_p.T47T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	47					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCATTACCTGTTAGATTGG	0.557													T|||	17	0.00339457	0.0129	0.0	5008	,	,		20513	0.0		0.0	False		,,,				2504	0.0				p.T47T		Atlas-SNP	.											.	TAF5L	76	.	0			c.A141G						PASS	.	T	,	51,4355	53.6+/-89.4	0,51,2152	105	95	99		141,141	3.5	1	1	dbSNP_134	99	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	TAF5L	NM_001025247.1,NM_014409.3	,	0,51,6452	CC,CT,TT		0.0,1.1575,0.3921	,	47/326,47/590	229750089	51,12955	2203	4300	6503	SO:0001630	splice_region_variant	27097	exon2			ATTACCTGTTAGA	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.142+1A>G	1.37:g.229750089T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	156	65	0.416667	NM_001025247	Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	CCDS1581.1																																																																																			T|0.997;C|0.003	0.003	strong		0.557	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409	Silent	C	229750089	T	C	229750089	5	2	22	1	0	0	0	0	0	0	1	0	15526	1594	55	3	1650	3	TAF5L	1	229750089	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66825	229750089	19500532	1060	6168										
URB2	9816	hgsc.bcm.edu	37	chr1	229770827	229770827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagccagctttgctggtCggcctgcaggcagcccgaag	15	13	0	1	rs115641620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229770827C>T	ENST00000258243.2	+	4	603	c.467C>T	c.(466-468)tCg>tTg	p.S156L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	156						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTTGCTGGTCGGCCTGCAGG	0.587													C|||	43	0.00858626	0.0318	0.0014	5008	,	,		21011	0.0		0.0	False		,,,				2504	0.0				p.S156L		Atlas-SNP	.											.	URB2	152	.	0			c.C467T						PASS	.	C	LEU/SER	113,4293	87.8+/-126.4	1,111,2091	62	53	56		467	-7.6	0	1	dbSNP_132	56	1,8599		0,1,4299	no	missense	URB2	NM_014777.2	145	1,112,6390	TT,TC,CC		0.0116,2.5647,0.8765	benign	156/1525	229770827	114,12892	2203	4300	6503	SO:0001583	missense	9816	exon4			GCTGGTCGGCCTG	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.467C>T	1.37:g.229770827C>T	ENSP00000258243:p.Ser156Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	117	62	0.529915	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	0.017	-1.506370	0.00992	0.025647	1.16E-4	ENSG00000135763	ENST00000258243	T	0.09911	2.93	5.68	-7.55	0.01327	.	0.884065	0.09779	N	0.756927	T	0.01558	0.0050	N	0.04994	-0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	9	.	.	.	-0.0083	19.9267	0.97106	0.0:0.1135:0.0:0.8865	.	156	Q14146	URB2_HUMAN	L	156	ENSP00000258243:S156L	.	S	+	2	0	URB2	227837450	0.045000	0.20229	0.000000	0.03702	0.006000	0.05464	0.359000	0.20233	-1.352000	0.02194	-1.684000	0.00734	TCG	C|0.992;T|0.008	0.008	strong		0.587	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229770827	C	T	229770827	3	4	22	1	0	0	0	0	1	0	0	0	17022	893	31	1	477	1	URB2	1	229770827	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20738	229770827	19479794	1061	6169										
URB2	9816	hgsc.bcm.edu	37	chr1	229772285	229772285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgttgctctggagatctCgaacctcccttcgttgctcc	10	13	2	1	rs115230066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229772285C>T	ENST00000258243.2	+	4	2061	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	642						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGGAGATCTCGAACCTCCCT	0.468													C|||	6	0.00119808	0.0045	0.0	5008	,	,		21056	0.0		0.0	False		,,,				2504	0.0				p.S642L		Atlas-SNP	.											.	URB2	152	.	0			c.C1925T						PASS	.	C	LEU/SER	10,4396	16.8+/-37.8	0,10,2193	206	212	210		1925	2.9	0	1	dbSNP_132	210	0,8600		0,0,4300	yes	missense	URB2	NM_014777.2	145	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	642/1525	229772285	10,12996	2203	4300	6503	SO:0001583	missense	9816	exon4			AGATCTCGAACCT	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1925C>T	1.37:g.229772285C>T	ENSP00000258243:p.Ser642Leu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	253	130	0.513834	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.986	0.551949	0.13374	0.00227	0.0	ENSG00000135763	ENST00000258243	T	0.31769	1.48	4.79	2.91	0.33838	.	1.112010	0.06634	N	0.759866	T	0.26593	0.0650	L	0.51422	1.61	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.21895	-1.0232	9	.	.	.	-2.6001	4.7928	0.13257	0.0:0.4546:0.297:0.2483	.	642	Q14146	URB2_HUMAN	L	642	ENSP00000258243:S642L	.	S	+	2	0	URB2	227838908	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.070000	0.30653	1.391000	0.46566	-0.157000	0.13467	TCG	C|0.999;T|0.001	0.001	strong		0.468	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229772285	C	T	229772285	3	4	22	1	0	0	0	0	1	0	0	0	17022	893	31	1	1935	1	URB2	1	229772285	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1458	229772285	19478336	1062	6170										
URB2	9816	hgsc.bcm.edu	37	chr1	229772932	229772932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgggaaaacagatttgcaAaagctggacccgaaggtata	11	6	0	1	rs3811474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229772932A>G	ENST00000258243.2	+	4	2708	c.2572A>G	c.(2572-2574)Aaa>Gaa	p.K858E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	858						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGATTTGCAAAAGCTGGACC	0.502													A|||	998	0.199281	0.1952	0.2421	5008	,	,		20179	0.4315		0.0636	False		,,,				2504	0.0746				p.K858E		Atlas-SNP	.											.	URB2	152	.	0			c.A2572G						PASS	.	A	GLU/LYS	844,3562	332.5+/-302.5	85,674,1444	86	90	89		2572	2.6	0	1	dbSNP_107	89	553,8047	150.6+/-205.5	14,525,3761	yes	missense	URB2	NM_014777.2	56	99,1199,5205	GG,GA,AA		6.4302,19.1557,10.7412	possibly-damaging	858/1525	229772932	1397,11609	2203	4300	6503	SO:0001583	missense	9816	exon4			TTTGCAAAAGCTG	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2572A>G	1.37:g.229772932A>G	ENSP00000258243:p.Lys858Glu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	162	74	0.45679	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	489	0.2239010989010989	99	0.20121951219512196	75	0.20718232044198895	271	0.4737762237762238	44	0.05804749340369393	A	7.495	0.651409	0.14516	0.191557	0.064302	ENSG00000135763	ENST00000258243	T	0.30182	1.54	4.95	2.59	0.31030	.	0.631054	0.17336	N	0.177928	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.21381	0.055	B	0.20955	0.032	T	0.47249	-0.9132	8	.	.	.	-2.8656	2.4527	0.04522	0.6029:0.1342:0.1332:0.1297	rs3811474;rs61291674;rs3811474	858	Q14146	URB2_HUMAN	E	858	ENSP00000258243:K858E	.	K	+	1	0	URB2	227839555	0.017000	0.18338	0.001000	0.08648	0.505000	0.33919	2.475000	0.45162	0.831000	0.34780	0.477000	0.44152	AAA	A|0.836;G|0.164	0.164	strong		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		G	229772932	A	G	229772932	3	3	22	1	0	0	0	0	1	0	0	0	17022	15	1	2	2582	2	URB2	1	229772932	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	647	229772932	19477689	1063	6171										
URB2	9816	hgsc.bcm.edu	37	chr1	229773441	229773441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaattttagaaaaatcacCgcattcctctctagttccaa	3	12	3	1	rs3811475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229773441C>T	ENST00000258243.2	+	4	3217	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1027						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAAAAATCACCGCATTCCTCT	0.463													C|||	1027	0.205072	0.2156	0.2464	5008	,	,		20811	0.4315		0.0626	False		,,,				2504	0.0746				p.T1027T		Atlas-SNP	.											.	URB2	152	.	0			c.C3081T						PASS	.	C		932,3474	354.1+/-312.5	101,730,1372	67	69	68		3081	-6.6	0	1	dbSNP_107	68	555,8045	150.6+/-205.5	14,527,3759	no	coding-synonymous	URB2	NM_014777.2		115,1257,5131	TT,TC,CC		6.4535,21.153,11.4332		1027/1525	229773441	1487,11519	2203	4300	6503	SO:0001819	synonymous_variant	9816	exon4			AATCACCGCATTC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3081C>T	1.37:g.229773441C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	159	68	0.427673	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																			C|0.857;T|0.143	0.143	strong		0.463	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229773441	C	T	229773441	2	4	22	1	0	0	0	0	0	0	0	1	17022	639	23	1		1	URB2	1	229773441	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	509	229773441	19477180	1064	6172										
URB2	9816	hgsc.bcm.edu	37	chr1	229783328	229783328	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcctgtcttagatgtcctGgctgcactgctgcggcaggg	16	11	1	1	rs115914317	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229783328G>C	ENST00000258243.2	+	7	4114	c.3978G>C	c.(3976-3978)ctG>ctC	p.L1326L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1326						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TAGATGTCCTGGCTGCACTGC	0.552													G|||	17	0.00339457	0.0129	0.0	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0				p.L1326L		Atlas-SNP	.											.	URB2	152	.	0			c.G3978C						PASS	.	G		51,4355	53.6+/-89.4	0,51,2152	78	71	73		3978	4.7	1	1	dbSNP_132	73	0,8600		0,0,4300	no	coding-synonymous	URB2	NM_014777.2		0,51,6452	CC,CG,GG		0.0,1.1575,0.3921		1326/1525	229783328	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	9816	exon7			TGTCCTGGCTGCA	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3978G>C	1.37:g.229783328G>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	147	76	0.517007	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																			G|0.997;C|0.003	0.003	strong		0.552	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		C	229783328	G	C	229783328	2	2	22	1	0	0	0	0	0	0	0	1	17022	1335	47	4		4	URB2	1	229783328	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9887	229783328	19467293	1065	6173										
URB2	9816	hgsc.bcm.edu	37	chr1	229783361	229783361	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagggggaggaggccatCggcaacccccaccacgtcag	15	15	1	0	rs137900306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229783361C>T	ENST00000258243.2	+	7	4147	c.4011C>T	c.(4009-4011)atC>atT	p.I1337I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1337						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGGAGGCCATCGGCAACCCCC	0.612													C|||	5	0.000998403	0.0038	0.0	5008	,	,		14676	0.0		0.0	False		,,,				2504	0.0				p.I1337I		Atlas-SNP	.											.	URB2	152	.	0			c.C4011T						PASS	.	C		11,4395	17.9+/-39.9	0,11,2192	90	74	79		4011	-0.1	0.1	1	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	URB2	NM_014777.2		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		1337/1525	229783361	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	9816	exon7			GGCCATCGGCAAC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4011C>T	1.37:g.229783361C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	142	74	0.521127	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																			C|0.999;T|0.001	0.001	strong		0.612	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229783361	C	T	229783361	2	4	22	1	0	0	0	0	0	0	0	1	17022	874	31	1		1	URB2	1	229783361	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33	229783361	19467260	1066	6174										
URB2	9816	hgsc.bcm.edu	37	chr1	229787055	229787055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagttatgcgggaagggcGgcagaaggacaaaggtaatt	15	5	1	1	rs41310553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:229787055G>A	ENST00000258243.2	+	8	4359	c.4223G>A	c.(4222-4224)cGg>cAg	p.R1408Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1408						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CGGGAAGGGCGGCAGAAGGAC	0.388													G|||	41	0.0081869	0.0083	0.0159	5008	,	,		17462	0.0		0.0139	False		,,,				2504	0.0051				p.R1408Q		Atlas-SNP	.											.	URB2	152	.	0			c.G4223A						PASS	.	G	GLN/ARG	58,4348	56.8+/-93.2	0,58,2145	87	84	85		4223	4.9	1	1	dbSNP_127	85	149,8451	72.9+/-135.5	1,147,4152	yes	missense	URB2	NM_014777.2	43	1,205,6297	AA,AG,GG		1.7326,1.3164,1.5916	probably-damaging	1408/1525	229787055	207,12799	2203	4300	6503	SO:0001583	missense	9816	exon8			AAGGGCGGCAGAA	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4223G>A	1.37:g.229787055G>A	ENSP00000258243:p.Arg1408Gln	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	63	0.547826	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	20	0.009157509157509158	3	0.006097560975609756	7	0.019337016574585635	0	0.0	10	0.013192612137203167	G	25.7	4.661699	0.88154	0.013164	0.017326	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.45668	0.89;0.89	5.78	4.86	0.63082	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.116848	0.53938	D	0.000042	T	0.46210	0.1381	M	0.69823	2.125	0.40363	D	0.97926	D	0.89917	1.0	D	0.69824	0.966	T	0.59968	-0.7354	9	.	.	.	-18.2991	14.7398	0.69445	0.0695:0.0:0.9305:0.0	rs41310553	1408	Q14146	URB2_HUMAN	Q	1408;24	ENSP00000258243:R1408Q;ENSP00000395107:R24Q	.	R	+	2	0	URB2	227853678	0.967000	0.33354	0.971000	0.41717	0.989000	0.77384	5.262000	0.65501	1.435000	0.47434	0.655000	0.94253	CGG	G|0.986;A|0.014	0.014	strong		0.388	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229787055	G	A	229787055	3	1	22	1	0	0	0	0	1	0	0	0	17022	1116	39	1	4249	1	URB2	1	229787055	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3694	229787055	19463566	1067	6175										
GALNT2	2590	hgsc.bcm.edu	37	chr1	230391058	230391058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaagcagcacccctacacGttcccgggtggcagtggcac	13	15	0	0	rs75919037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230391058G>A	ENST00000366672.4	+	11	1176	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	GALNT2_ENST00000541865.1_Missense_Mutation_p.V244I|GALNT2_ENST00000543760.1_Silent_p.T330T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	368					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACCCCTACACGTTCCCGGGTG	0.587													G|||	10	0.00199681	0.0076	0.0	5008	,	,		19672	0.0		0.0	False		,,,				2504	0.0				p.T368T		Atlas-SNP	.											GALNT2,ear,carcinoma,+1,1	GALNT2	83	1	0			c.G1104A						PASS	.	G		42,4364	45.3+/-79.5	0,42,2161	173	129	144		1104	-8.4	0.7	1	dbSNP_132	144	0,8600		0,0,4300	no	coding-synonymous	GALNT2	NM_004481.3		0,42,6461	AA,AG,GG		0.0,0.9532,0.3229		368/572	230391058	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	2590	exon11			CTACACGTTCCCG	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1104G>A	1.37:g.230391058G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	115	69	0.6	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	2.687	-0.274072	0.05679	0.009532	0.0	ENSG00000143641	ENST00000541865	T	0.41065	1.01	4.97	-8.41	0.00961	.	.	.	.	.	T	0.19525	0.0469	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35847	-0.9772	6	0.59425	D	0.04	.	1.101	0.01683	0.1909:0.2919:0.1871:0.3301	.	.	.	.	I	244	ENSP00000444346:V244I	ENSP00000444346:V244I	V	+	1	0	GALNT2	228457681	0.000000	0.05858	0.694000	0.30210	0.977000	0.68977	-2.466000	0.00994	-1.729000	0.01364	-0.244000	0.11960	GTT	G|0.996;A|0.004	0.004	strong		0.587	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		A	230391058	G	A	230391058	2	1	22	1	0	0	0	0	0	0	0	1	6213	1132	40	1		1	GALNT2	1	230391058	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	604003	230391058	18859563	1068	6176										
COG2	22796	hgsc.bcm.edu	37	chr1	230796533	230796533	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaagccctcaaccagctTtctgtgcctttgggacaatt	8	12	2	0	rs16852160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230796533T>G	ENST00000366669.4	+	3	379	c.264T>G	c.(262-264)ctT>ctG	p.L88L	COG2_ENST00000366668.3_Silent_p.L88L|COG2_ENST00000534989.1_Silent_p.L29L|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	88					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCAACCAGCTTTCTGTGCCTT	0.423													T|||	161	0.0321486	0.1127	0.0115	5008	,	,		16141	0.001		0.001	False		,,,				2504	0.002				p.L88L		Atlas-SNP	.											.	COG2	61	.	0			c.T264G						PASS	.	T	,	436,3970	208.8+/-229.8	20,396,1787	221	178	193		264,264	-0.9	1	1	dbSNP_123	193	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous,coding-synonymous	COG2	NM_001145036.1,NM_007357.2	,	20,409,6074	GG,GT,TT		0.1512,9.8956,3.4523	,	88/738,88/739	230796533	449,12557	2203	4300	6503	SO:0001819	synonymous_variant	22796	exon3			CCAGCTTTCTGTG	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.264T>G	1.37:g.230796533T>G		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	245	105	0.428571	NM_007357	Q86U99	Silent	SNP	ENST00000366669.4	37	CCDS1584.1																																																																																			T|0.962;G|0.038	0.038	strong		0.423	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		G	230796533	T	G	230796533	2	3	22	1	0	0	0	0	0	0	0	1	3658	1828	64	5		5	COG2	1	230796533	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	405475	230796533	18454088	1069	6177										
COG2	22796	hgsc.bcm.edu	37	chr1	230810756	230810756	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttacagtgaaaaaggcaaTactgttcctggatatgactt	8	6	0	2	rs6681346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230810756T>A	ENST00000366669.4	+	9	1027	c.912T>A	c.(910-912)aaT>aaA	p.N304K	COG2_ENST00000535166.1_Missense_Mutation_p.N188K|COG2_ENST00000534989.1_Missense_Mutation_p.N245K|COG2_ENST00000366668.3_Missense_Mutation_p.N304K	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	304			N -> K (in dbSNP:rs6681346).		Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AAAAAGGCAATACTGTTCCTG	0.368													T|||	475	0.0948482	0.2156	0.0231	5008	,	,		16747	0.0625		0.0159	False		,,,				2504	0.0971				p.N304K		Atlas-SNP	.											.	COG2	61	.	0			c.T912A						PASS	.	T	LYS/ASN,LYS/ASN	793,3613	316.9+/-294.8	78,637,1488	127	136	133		912,912	-2.2	0.3	1	dbSNP_116	133	90,8510	51.1+/-111.2	1,88,4211	yes	missense,missense	COG2	NM_001145036.1,NM_007357.2	94,94	79,725,5699	AA,AT,TT		1.0465,17.9982,6.7892	benign,benign	304/738,304/739	230810756	883,12123	2203	4300	6503	SO:0001583	missense	22796	exon9			AGGCAATACTGTT	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.912T>A	1.37:g.230810756T>A	ENSP00000355629:p.Asn304Lys	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	101	49	0.485149	NM_007357	Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	CCDS1584.1	154	0.07051282051282051	104	0.21138211382113822	8	0.022099447513812154	34	0.05944055944055944	8	0.010554089709762533	T	11.50	1.658121	0.29425	0.179982	0.010465	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.92	-2.23	0.06930	.	0.182059	0.56097	D	0.000023	T	0.00012	0.0000	L	0.47716	1.5	0.21355	P	0.999712339	B;B	0.26195	0.144;0.045	B;B	0.18263	0.021;0.021	T	0.40021	-0.9585	9	0.07990	T	0.79	-16.6064	11.4718	0.50272	0.0:0.3913:0.0:0.6087	rs6681346;rs17848117;rs52807515;rs6681346	304;304	Q86U99;Q14746	.;COG2_HUMAN	K	304;188;304;245	ENSP00000355629:N304K;ENSP00000445724:N188K;ENSP00000355628:N304K;ENSP00000440349:N245K	ENSP00000355628:N304K	N	+	3	2	COG2	228877379	0.753000	0.28349	0.277000	0.24703	0.994000	0.84299	0.099000	0.15210	-0.398000	0.07679	0.533000	0.62120	AAT	T|0.922;A|0.078	0.078	strong		0.368	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		A	230810756	T	A	230810756	3	1	22	1	0	0	0	0	1	0	0	0	3658	1403	49	5	946	5	COG2	1	230810756	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14223	230810756	18439865	1070	6178										
AGT	183	hgsc.bcm.edu	37	chr1	230846305	230846305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggccctcaacttgtcttCggtgtcaagttttgcagcga	11	11	3	0	rs11568032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230846305C>T	ENST00000366667.4	-	2	506	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	98			E -> K (in dbSNP:rs11568032).		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACTTGTCTTCGGTGTCAAGT	0.562													C|||	17	0.00339457	0.0113	0.0029	5008	,	,		21719	0.0		0.0	False		,,,				2504	0.0				p.E98K		Atlas-SNP	.											.	AGT	62	.	0			c.G292A						PASS	.	C	LYS/GLU	62,4344	58.1+/-94.6	0,62,2141	90	88	89		292	4.2	0	1	dbSNP_120	89	0,8600		0,0,4300	yes	missense	AGT	NM_000029.3	56	0,62,6441	TT,TC,CC		0.0,1.4072,0.4767	benign	98/486	230846305	62,12944	2203	4300	6503	SO:0001583	missense	183	exon2			TGTCTTCGGTGTC	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.292G>A	1.37:g.230846305C>T	ENSP00000355627:p.Glu98Lys	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	183	86	0.469945	NM_000029	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	9	0.004120879120879121	7	0.014227642276422764	2	0.0055248618784530384	0	0.0	0	0.0	C	8.409	0.843741	0.16963	0.014072	0.0	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87412	-2.25	5.09	4.18	0.49190	Serpin domain (1);	0.637587	0.16103	N	0.229456	T	0.73621	0.3610	M	0.62723	1.935	0.09310	N	1	P;P;P	0.40794	0.685;0.729;0.685	B;B;B	0.29785	0.107;0.101;0.107	T	0.66135	-0.5999	10	0.23302	T	0.38	.	5.7631	0.18211	0.1411:0.6438:0.1367:0.0785	rs11568032;rs52801258;rs59896600;rs11568032	98;98;98	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	K	98	ENSP00000355627:E98K	ENSP00000355627:E98K	E	-	1	0	AGT	228912928	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.721000	0.25911	1.276000	0.44395	0.491000	0.48974	GAA	C|0.994;T|0.006	0.006	strong		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		T	230846305	C	T	230846305	3	4	22	1	0	0	0	0	1	0	0	0	399	893	31	1	1181	1	AGT	1	230846305	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35549	230846305	18404316	1071	6179										
CAPN9	10753	hgsc.bcm.edu	37	chr1	230895340	230895340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatcccccaggaccaaagCtttggccctggttatgccgg	11	14	1	0	rs28359608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230895340C>A	ENST00000271971.2	+	3	479	c.366C>A	c.(364-366)agC>agA	p.S122R	CAPN9_ENST00000354537.1_Missense_Mutation_p.S122R|CAPN9_ENST00000366666.2_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	122	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		S -> R (in dbSNP:rs28359608). {ECO:0000269|Ref.3}.		digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGGACCAAAGCTTTGGCCCTG	0.562													C|||	775	0.154752	0.174	0.0648	5008	,	,		17831	0.0764		0.1451	False		,,,				2504	0.2832				p.S122R		Atlas-SNP	.											.	CAPN9	116	.	0			c.C366A						PASS	.	C	ARG/SER,ARG/SER	738,3668	304.1+/-288.3	70,598,1535	54	52	53		366,366	-1.1	0.9	1	dbSNP_125	53	1196,7404	243.1+/-272.8	80,1036,3184	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	110,110	150,1634,4719	AA,AC,CC		13.907,16.7499,14.8701	probably-damaging,probably-damaging	122/691,122/665	230895340	1934,11072	2203	4300	6503	SO:0001583	missense	10753	exon3			CCAAAGCTTTGGC	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.366C>A	1.37:g.230895340C>A	ENSP00000271971:p.Ser122Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	116	115	0.991379	NM_006615	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	293	0.13415750915750915	97	0.19715447154471544	25	0.06906077348066299	51	0.08916083916083917	120	0.158311345646438	C	14.90	2.672015	0.47781	0.167499	0.13907	ENSG00000135773	ENST00000271971;ENST00000354537	D;D	0.89196	-2.48;-2.48	5.02	-1.09	0.09904	Peptidase C2, calpain, catalytic domain (3);	0.533147	0.23962	N	0.042855	T	0.00784	0.0026	M	0.93720	3.45	0.09310	P	1.0	B;P	0.43169	0.21;0.8	B;P	0.47528	0.126;0.549	T	0.52403	-0.8580	9	0.87932	D	0	.	4.6129	0.12411	0.154:0.3686:0.0:0.4774	rs28359608;rs28359608	122;122	O14815-2;O14815	.;CAN9_HUMAN	R	122	ENSP00000271971:S122R;ENSP00000346538:S122R	ENSP00000271971:S122R	S	+	3	2	CAPN9	228961963	1.000000	0.71417	0.937000	0.37676	0.404000	0.30871	1.710000	0.37920	-0.026000	0.13895	-0.793000	0.03317	AGC	C|0.861;A|0.139	0.139	strong		0.562	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		A	230895340	C	A	230895340	3	1	22	1	0	0	0	0	1	0	0	0	2632	796	28	4	376	4	CAPN9	1	230895340	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49035	230895340	18355281	1072	6180										
CAPN9	10753	hgsc.bcm.edu	37	chr1	230910339	230910339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggtccagctgagcagaaGcgtctgtgtcacactgctct	12	11	3	2	rs7517389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230910339G>A	ENST00000271971.2	+	8	1028	c.915G>A	c.(913-915)aaG>aaA	p.K305K	CAPN9_ENST00000354537.1_Intron|CAPN9_ENST00000366666.2_Silent_p.K242K|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	305	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTGAGCAGAAGCGTCTGTGTC	0.517													G|||	473	0.0944489	0.1006	0.1081	5008	,	,		18139	0.0804		0.0457	False		,,,				2504	0.1411				p.K305K		Atlas-SNP	.											.	CAPN9	116	.	0			c.G915A						PASS	.	G	,	418,3988	205.8+/-227.6	12,394,1797	241	195	211		915,	-1.2	0.2	1	dbSNP_116	211	383,8217	124.3+/-183.0	10,363,3927	no	coding-synonymous,intron	CAPN9	NM_006615.2,NM_016452.1	,	22,757,5724	AA,AG,GG		4.4535,9.4871,6.1587	,	305/691,	230910339	801,12205	2203	4300	6503	SO:0001819	synonymous_variant	10753	exon8			GCAGAAGCGTCTG	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.915G>A	1.37:g.230910339G>A		Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	300	157	0.523333	NM_006615	B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	CCDS1586.1																																																																																			G|0.936;A|0.064	0.064	strong		0.517	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		A	230910339	G	A	230910339	2	1	22	1	0	0	0	0	0	0	0	1	2632	962	34	2		2	CAPN9	1	230910339	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14999	230910339	18340282	1073	6181										
CAPN9	10753	hgsc.bcm.edu	37	chr1	230914729	230914729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgctgcaggatggcatttAaggacttcaaggcccacttt	10	9	1	0	rs1933631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230914729A>C	ENST00000271971.2	+	9	1077	c.964A>C	c.(964-966)Aag>Cag	p.K322Q	CAPN9_ENST00000366666.2_Missense_Mutation_p.K259Q|CAPN9_ENST00000354537.1_Missense_Mutation_p.K296Q|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	322	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		K -> Q (in dbSNP:rs1933631). {ECO:0000269|Ref.3}.		digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GATGGCATTTAAGGACTTCAA	0.493													A|||	1659	0.33127	0.3888	0.2075	5008	,	,		17427	0.1875		0.3201	False		,,,				2504	0.501				p.K322Q		Atlas-SNP	.											.	CAPN9	116	.	0			c.A964C						PASS	.	A	GLN/LYS,GLN/LYS	1669,2737	506.6+/-366.4	316,1037,850	65	54	58		964,886	-3.5	0	1	dbSNP_92	58	2765,5835	437.6+/-358.7	422,1921,1957	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	53,53	738,2958,2807	CC,CA,AA		32.1512,37.8802,34.092	benign,benign	322/691,296/665	230914729	4434,8572	2203	4300	6503	SO:0001583	missense	10753	exon9			GCATTTAAGGACT	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.964A>C	1.37:g.230914729A>C	ENSP00000271971:p.Lys322Gln	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_006615	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	631	0.2889194139194139	196	0.3983739837398374	76	0.20994475138121546	103	0.18006993006993008	256	0.33773087071240104	A	4.329	0.060364	0.08339	0.378802	0.321512	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.15603	2.41;2.41;2.41	5.24	-3.49	0.04724	Peptidase C2, calpain, catalytic domain (3);	0.854162	0.10872	N	0.624846	T	0.00012	0.0000	N	0.01686	-0.76	0.80722	P	0.0	B;B;B	0.25105	0.017;0.118;0.017	B;B;B	0.20384	0.005;0.029;0.005	T	0.37267	-0.9713	9	0.02654	T	1	.	2.0781	0.03628	0.2162:0.282:0.3632:0.1385	rs1933631;rs17788932;rs52813786;rs60788299;rs1933631	259;296;322	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	Q	322;296;259	ENSP00000271971:K322Q;ENSP00000346538:K296Q;ENSP00000355626:K259Q	ENSP00000271971:K322Q	K	+	1	0	CAPN9	228981352	0.990000	0.36364	0.001000	0.08648	0.294000	0.27393	1.483000	0.35497	-0.677000	0.05231	-0.490000	0.04691	AAG	A|0.692;C|0.308	0.308	strong		0.493	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		C	230914729	A	C	230914729	3	2	22	1	0	0	0	0	1	0	0	0	2632	363	13	5	998	5	CAPN9	1	230914729	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4390	230914729	18335892	1074	6182										
CAPN9	10753	hgsc.bcm.edu	37	chr1	230916057	230916057	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatttggtgccaatgtgcTgacaatcggctatgccattt	11	8	0	2	rs79844715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:230916057T>G	ENST00000271971.2	+	10	1360	c.1247T>G	c.(1246-1248)cTg>cGg	p.L416R	RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.L353R|CAPN9_ENST00000354537.1_Missense_Mutation_p.L390R	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	416	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCCAATGTGCTGACAATCGGC	0.483													T|||	7	0.00139776	0.0045	0.0014	5008	,	,		17721	0.0		0.0	False		,,,				2504	0.0				p.L416R		Atlas-SNP	.											.	CAPN9	116	.	0			c.T1247G						PASS	.	T	ARG/LEU,ARG/LEU	23,4383	29.9+/-59.1	0,23,2180	124	112	116		1247,1169	5.5	1	1	dbSNP_131	116	0,8600		0,0,4300	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	102,102	0,23,6480	GG,GT,TT		0.0,0.522,0.1768	probably-damaging,probably-damaging	416/691,390/665	230916057	23,12983	2203	4300	6503	SO:0001583	missense	10753	exon10			ATGTGCTGACAAT	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1247T>G	1.37:g.230916057T>G	ENSP00000271971:p.Leu416Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	148	71	0.47973	NM_006615	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	10.03	1.239188	0.22711	0.00522	0.0	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.88586	-2.4;-2.4;-2.4	5.54	5.54	0.83059	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.197529	0.44483	D	0.000444	D	0.92691	0.7677	M	0.88241	2.94	0.58432	D	0.999996	D;D;D	0.67145	0.996;0.991;0.993	D;P;P	0.64410	0.925;0.793;0.869	D	0.92319	0.5864	10	0.31617	T	0.26	.	15.3798	0.74645	0.0:0.0:0.0:1.0	.	353;390;416	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	R	416;390;353	ENSP00000271971:L416R;ENSP00000346538:L390R;ENSP00000355626:L353R	ENSP00000271971:L416R	L	+	2	0	CAPN9	228982680	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.833000	0.55790	2.112000	0.64535	0.524000	0.50904	CTG	T|0.998;G|0.002	0.002	strong		0.483	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		G	230916057	T	G	230916057	3	3	22	1	0	0	0	0	1	0	0	0	2632	1580	55	5	1285	5	CAPN9	1	230916057	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1328	230916057	18334564	1075	6183										
TRIM67	440730	hgsc.bcm.edu	37	chr1	231298970	231298970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcaggcgggagtgcagcTggcggcctcggcggcggtgc	22	11	0	0	rs372035563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:231298970T>C	ENST00000366653.5	+	1	255	c.255T>C	c.(253-255)gcT>gcC	p.A85A	TRIM67_ENST00000444294.3_Silent_p.A85A|TRIM67_ENST00000366652.2_Silent_p.A85A|TRIM67_ENST00000449018.3_Silent_p.A45A			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	85	Gly-rich.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGAGTGCAGCTGGCGGCCTCG	0.756													T|||	20	0.00399361	0.0151	0.0	5008	,	,		9536	0.0		0.0	False		,,,				2504	0.0				p.A85A		Atlas-SNP	.											.	TRIM67	160	.	0			c.T255C						PASS	.	T		1,2915		0,1,1457	2	2	2		255	-8.1	0	1		2	0,6030		0,0,3015	no	coding-synonymous	TRIM67	NM_001004342.3		0,1,4472	CC,CT,TT		0.0,0.0343,0.0112		85/784	231298970	1,8945	1458	3015	4473	SO:0001819	synonymous_variant	440730	exon1			TGCAGCTGGCGGC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.255T>C	1.37:g.231298970T>C		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	17	5	0.294118	NM_001004342	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																			.	.	none		0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		C	231298970	T	C	231298970	2	2	22	1	0	0	0	0	0	0	0	1	16537	1567	55	3		3	TRIM67	1	231298970	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	382913	231298970	17951651	1076	6184										
TRIM67	440730	hgsc.bcm.edu	37	chr1	231339713	231339713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacccacagccccgtggaCggctacatcctggagctgga	11	15	1	0	rs11806609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:231339713C>T	ENST00000366653.5	+	6	1635	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	TRIM67_ENST00000444294.3_Silent_p.D543D|TRIM67_ENST00000366652.2_Silent_p.D545D|TRIM67_ENST00000449018.3_Silent_p.D483D			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	545	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCCCCGTGGACGGCTACATCC	0.632													C|||	650	0.129792	0.1536	0.0389	5008	,	,		17177	0.2272		0.0358	False		,,,				2504	0.1585				p.D545D		Atlas-SNP	.											.	TRIM67	160	.	0			c.C1635T						PASS	.	C		560,3596		31,498,1549	49	63	58		1635	-7.7	0.6	1	dbSNP_120	58	302,8092		3,296,3898	no	coding-synonymous	TRIM67	NM_001004342.3		34,794,5447	TT,TC,CC		3.5978,13.4745,6.8685		545/784	231339713	862,11688	2078	4197	6275	SO:0001819	synonymous_variant	440730	exon6			CGTGGACGGCTAC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1635C>T	1.37:g.231339713C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_001004342	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																			C|0.892;T|0.108	0.108	strong		0.632	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		T	231339713	C	T	231339713	2	4	22	1	0	0	0	0	0	0	0	1	16537	535	19	1		1	TRIM67	1	231339713	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40743	231339713	17910908	1077	6185										
EXOC8	149371	hgsc.bcm.edu	37	chr1	231472916	231472916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccatgtggtccgcatcGtattccactaggtccccatt	10	13	0	0	rs73116365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:231472916G>A	ENST00000360394.2	-	1	662	c.576C>T	c.(574-576)taC>taT	p.Y192Y	EXOC8_ENST00000366645.1_Silent_p.Y188Y|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	192	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGTCCGCATCGTATTCCACTA	0.587													G|||	77	0.0153754	0.0537	0.0072	5008	,	,		17457	0.0		0.001	False		,,,				2504	0.0				p.Y192Y		Atlas-SNP	.											.	EXOC8	42	.	0			c.C576T						PASS	.	G		215,4191	130.2+/-166.9	7,201,1995	77	66	70		576	1.2	1	1	dbSNP_130	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EXOC8	NM_175876.3		7,203,6293	AA,AG,GG		0.0233,4.8797,1.6685		192/726	231472916	217,12789	2203	4300	6503	SO:0001819	synonymous_variant	149371	exon1			CGCATCGTATTCC	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.576C>T	1.37:g.231472916G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	108	53	0.490741	NM_175876	B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	CCDS1593.1																																																																																			G|0.983;A|0.017	0.017	strong		0.587	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231472916	G	A	231472916	2	1	22	1	0	0	0	0	0	0	0	1	5311	1140	40	1		1	EXOC8	1	231472916	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133203	231472916	17777705	1078	6186										
C1orf124	83932	hgsc.bcm.edu	37	chr1	231487133	231487133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgccagcacaggccaccGtattacggctatgtcaaacg	10	14	1	0	rs73116379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:231487133G>A	ENST00000295050.7	+	4	870	c.534G>A	c.(532-534)ccG>ccA	p.P178P	SPRTN_ENST00000008440.9_Silent_p.P135P|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000391858.4_Silent_p.P178P	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	178	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										ACAGGCCACCGTATTACGGCT	0.512													G|||	76	0.0151757	0.053	0.0072	5008	,	,		14878	0.0		0.001	False		,,,				2504	0.0				p.P178P		Atlas-SNP	.											.	.	.	.	0			c.G534A						PASS	.	G	,	218,4188	131.4+/-167.9	7,204,1992	68	67	68		534,534	-11.5	0	1	dbSNP_130	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	C1orf124	NM_001010984.1,NM_032018.4	,	7,207,6289	AA,AG,GG		0.0349,4.9478,1.6992	,	178/251,178/490	231487133	221,12785	2203	4300	6503	SO:0001819	synonymous_variant	83932	exon4			GCCACCGTATTAC	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.534G>A	1.37:g.231487133G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	104	48	0.461538	NM_032018	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Silent	SNP	ENST00000295050.7	37	CCDS1594.1																																																																																			G|0.983;A|0.017	0.017	strong		0.512	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		A	231487133	G	A	231487133	2	1	22	1	0	0	0	0	0	0	0	1	1992	1132	40	1		1	C1orf124	1	231487133	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14217	231487133	17763488	1079	6187										
SIPA1L2	57568	hgsc.bcm.edu	37	chr1	232575051	232575051	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgccaggtgcacagggccGaggatggtggcaggcatgca	17	11	0	0	rs189356281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232575051G>A	ENST00000366630.1	-	14	4192	c.3834C>T	c.(3832-3834)ctC>ctT	p.L1278L	SIPA1L2_ENST00000308942.4_Silent_p.L352L|SIPA1L2_ENST00000262861.4_Silent_p.L1278L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1278					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCACAGGGCCGAGGATGGTGG	0.667													G|||	21	0.00419329	0.0144	0.0	5008	,	,		18627	0.0		0.002	False		,,,				2504	0.0				p.L1278L		Atlas-SNP	.											SIPA1L2,colon,carcinoma,-2,1	SIPA1L2	218	1	0			c.C3834T						scavenged	.	G		77,3971		0,77,1947	37	41	40		3834	-10.3	0	1		40	3,8363		0,3,4180	no	coding-synonymous	SIPA1L2	NM_020808.3		0,80,6127	AA,AG,GG		0.0359,1.9022,0.6444		1278/1723	232575051	80,12334	2024	4183	6207	SO:0001819	synonymous_variant	57568	exon13			AGGGCCGAGGATG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3834C>T	1.37:g.232575051G>A		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	123	61	0.495935	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																			G|0.996;A|0.004	0.004	strong		0.667	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232575051	G	A	232575051	2	1	22	1	0	0	0	0	0	0	0	1	14330	1045	37	1		1	SIPA1L2	1	232575051	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1087918	232575051	16675570	1080	6188										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232940953	232940953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttatatcctcagcattaTcatcaattgtcttaatacaa	2	10	4	0	rs10797593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232940953T>C	ENST00000418460.1	+	1	311	c.184T>C	c.(184-186)Tca>Cca	p.S62P		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.S62P(1)									CTCAGCATTATCATCAATTGT	0.403													T|||	595	0.11881	0.1861	0.0836	5008	,	,		20854	0.1369		0.0567	False		,,,				2504	0.0982				p.S62P		Atlas-SNP	.											KIAA1383_ENST00000418460,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.T184C						PASS	.	T	PRO/SER	687,3111		57,573,1269	158	161	160		184	0.2	0	1	dbSNP_120	160	386,7856		10,366,3745	yes	missense	KIAA1383	NM_019090.2	74	67,939,5014	CC,CT,TT		4.6833,18.0885,8.912		62/1048	232940953	1073,10967	1899	4121	6020	SO:0001583	missense	54627	exon1			GCATTATCATCAA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.184T>C	1.37:g.232940953T>C	ENSP00000403208:p.Ser62Pro	Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	206	100	0.485437	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	221	0.10119047619047619	81	0.16463414634146342	29	0.08011049723756906	69	0.12062937062937062	42	0.055408970976253295	T	13.54	2.268241	0.40095	0.180885	0.046833	ENSG00000212916	ENST00000418460	.	.	.	2.64	0.208	0.15221	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.15607	-1.0431	4	0.87932	D	0	.	2.0711	0.03614	0.2587:0.1527:0.0:0.5886	rs10797593;rs52796164;rs10797593	.	.	.	P	62	.	ENSP00000403208:S62P	S	+	1	0	KIAA1383	231007576	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.732000	0.04904	0.018000	0.15052	0.260000	0.18958	TCA	T|0.893;C|0.107	0.107	strong		0.403	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		C	232940953	T	C	232940953	3	2	22	1	0	0	0	0	1	0	0	0	8228	1435	50	2	186	2	KIAA1383	1	232940953	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	365902	232940953	16309668	1081	6189										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232941215	232941215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggcggcctcgctgtccgAgcggctcttctcgctggagc	14	14	2	0	rs41271527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232941215A>G	ENST00000418460.1	+	1	573	c.446A>G	c.(445-447)gAg>gGg	p.E149G		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	7					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TCGCTGTCCGAGCGGCTCTTC	0.677													A|||	315	0.0628994	0.0908	0.0432	5008	,	,		12965	0.0347		0.0517	False		,,,				2504	0.0798				p.E149G		Atlas-SNP	.											.	.	.	.	0			c.A446G						PASS	.	A	GLY/GLU	332,3612		14,304,1654	8	11	10		446	3.8	0.9	1	dbSNP_127	10	342,7942		9,324,3809	yes	missense	KIAA1383	NM_019090.2	98	23,628,5463	GG,GA,AA		4.1284,8.4178,5.5119	benign	149/1048	232941215	674,11554	1972	4142	6114	SO:0001583	missense	54627	exon1			TGTCCGAGCGGCT	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.446A>G	1.37:g.232941215A>G	ENSP00000403208:p.Glu149Gly	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	135	62	0.459259	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	107	0.04899267399267399	39	0.07926829268292683	17	0.04696132596685083	13	0.022727272727272728	38	0.05013192612137203	A	15.00	2.702542	0.48307	0.084178	0.041284	ENSG00000212916	ENST00000418460	.	.	.	4.94	3.77	0.43336	.	0.190060	0.24891	N	0.034776	T	0.05044	0.0135	M	0.63428	1.95	0.31196	N	0.700311	B	0.32800	0.385	B	0.39805	0.31	T	0.32719	-0.9896	9	0.51188	T	0.08	-4.86	9.5261	0.39165	0.9163:0.0:0.0837:0.0	rs41271527	7	Q9P2G4	K1383_HUMAN	G	149	.	ENSP00000403208:E149G	E	+	2	0	KIAA1383	231007838	1.000000	0.71417	0.898000	0.35279	0.054000	0.15201	2.070000	0.41491	0.783000	0.33636	0.260000	0.18958	GAG	A|0.951;G|0.049	0.049	strong		0.677	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		G	232941215	A	G	232941215	3	3	22	1	0	0	0	0	1	0	0	0	8228	304	11	3	448	3	KIAA1383	1	232941215	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	262	232941215	16309406	1082	6190										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232941677	232941677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccaccgtcaccggggacGtttccccctgcataatcgag	9	17	1	0	rs3766497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232941677G>T	ENST00000418460.1	+	1	1035	c.908G>T	c.(907-909)cGt>cTt	p.R303L		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	161					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CACCGGGGACGTTTCCCCCTG	0.687													G|||	673	0.134385	0.2504	0.085	5008	,	,		14586	0.1369		0.0517	False		,,,				2504	0.0951				p.R303L		Atlas-SNP	.											.	.	.	.	0			c.G908T						PASS	.	G	LEU/ARG	828,3246		78,672,1287	12	15	14		908	0.4	0	1	dbSNP_107	14	365,7975		12,341,3817	yes	missense	KIAA1383	NM_019090.2	102	90,1013,5104	TT,TG,GG		4.3765,20.324,9.6101	benign	303/1048	232941677	1193,11221	2037	4170	6207	SO:0001583	missense	54627	exon1			GGGGACGTTTCCC	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.908G>T	1.37:g.232941677G>T	ENSP00000403208:p.Arg303Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	143	140	0.979021	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	238	0.10897435897435898	101	0.20528455284552846	30	0.08287292817679558	69	0.12062937062937062	38	0.05013192612137203	G	12.69	2.012307	0.35511	0.20324	0.043765	ENSG00000212916	ENST00000418460	.	.	.	4.94	0.452	0.16634	.	1.175810	0.06895	U	0.804872	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.14805	0.011	B	0.11329	0.006	T	0.26883	-1.0090	8	0.27082	T	0.32	-0.0895	4.2395	0.10642	0.0776:0.1603:0.5018:0.2602	rs3766497;rs3766497	161	Q9P2G4	K1383_HUMAN	L	303	.	ENSP00000403208:R303L	R	+	2	0	KIAA1383	231008300	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.256000	0.08757	0.288000	0.22398	-0.263000	0.10527	CGT	G|0.897;T|0.103	0.103	strong		0.687	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		T	232941677	G	T	232941677	3	4	22	1	0	0	0	0	1	0	0	0	8228	1145	40	4	910	4	KIAA1383	1	232941677	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	462	232941677	16308944	1083	6191										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232942028	232942028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacatgttcaggtgctggcaAtgggagaaatgttagctccc	12	8	1	1	rs61739198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232942028A>G	ENST00000418460.1	+	1	1386	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	278					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GGTGCTGGCAATGGGAGAAAT	0.408													A|||	291	0.058107	0.1755	0.0159	5008	,	,		20419	0.0367		0.0	False		,,,				2504	0.0112				p.N420S		Atlas-SNP	.											.	.	.	.	0			c.A1259G						PASS	.	A	SER/ASN	564,3334		34,496,1419	270	276	274		1259	0.1	0	1	dbSNP_129	274	10,8292		0,10,4141	yes	missense	KIAA1383	NM_019090.2	46	34,506,5560	GG,GA,AA		0.1205,14.469,4.7049	benign	420/1048	232942028	574,11626	1949	4151	6100	SO:0001583	missense	54627	exon1			CTGGCAATGGGAG	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1259A>G	1.37:g.232942028A>G	ENSP00000403208:p.Asn420Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	77	0.035256410256410256	59	0.11991869918699187	6	0.016574585635359115	12	0.02097902097902098	0	0.0	A	0.010	-1.770792	0.00645	0.14469	0.001205	ENSG00000212916	ENST00000418460	.	.	.	4.1	0.0565	0.14319	.	1.494600	0.04801	N	0.433460	T	0.00073	0.0002	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.19516	-1.0303	8	0.06625	T	0.88	0.6958	6.8928	0.24238	0.3994:0.0:0.6006:0.0	rs61739198	278	Q9P2G4	K1383_HUMAN	S	420	.	ENSP00000403208:N420S	N	+	2	0	KIAA1383	231008651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	0.030000	0.15379	-1.864000	0.00558	AAT	A|0.970;G|0.030	0.030	strong		0.408	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		G	232942028	A	G	232942028	3	3	22	1	0	0	0	0	1	0	0	0	8228	101	4	2	1261	2	KIAA1383	1	232942028	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	351	232942028	16308593	1084	6192										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232942251	232942251	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcacacaggagttgtctAaagcatccaagttctgcagc	9	12	2	0	rs12048236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232942251A>G	ENST00000418460.1	+	1	1609	c.1482A>G	c.(1480-1482)ctA>ctG	p.L494L		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	352					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.L494L(1)									GGAGTTGTCTAAAGCATCCAA	0.418													A|||	670	0.133786	0.2481	0.0836	5008	,	,		19814	0.1379		0.0517	False		,,,				2504	0.0951				p.L494L		Atlas-SNP	.											KIAA1383_ENST00000418460,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.A1482G						PASS	.	A		847,3011		84,679,1166	67	67	67		1482	0.3	0	1	dbSNP_120	67	375,7907		10,355,3776	no	coding-synonymous	KIAA1383	NM_019090.2		94,1034,4942	GG,GA,AA		4.5279,21.9544,10.0659		494/1048	232942251	1222,10918	1929	4141	6070	SO:0001819	synonymous_variant	54627	exon1			TTGTCTAAAGCAT	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1482A>G	1.37:g.232942251A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	CCDS44334.1																																																																																			A|0.885;G|0.115	0.115	strong		0.418	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		G	232942251	A	G	232942251	2	3	22	1	0	0	0	0	0	0	0	1	8228	349	13	2		2	KIAA1383	1	232942251	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	223	232942251	16308370	1085	6193										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232942276	232942276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccaagttctgcagcacacGaacatcctccaatgcttgta	6	13	1	0	rs61735495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232942276G>A	ENST00000418460.1	+	1	1634	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	361					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TGCAGCACACGAACATCCTCC	0.403													G|||	107	0.0213658	0.0794	0.0029	5008	,	,		20484	0.0		0.0	False		,,,				2504	0.0				p.E503K		Atlas-SNP	.											.	.	.	.	0			c.G1507A						PASS	.	G	LYS/GLU	242,3624		6,230,1697	71	69	70		1507	2.5	0	1	dbSNP_129	70	0,8278		0,0,4139	yes	missense	KIAA1383	NM_019090.2	56	6,230,5836	AA,AG,GG		0.0,6.2597,1.9928	possibly-damaging	503/1048	232942276	242,11902	1933	4139	6072	SO:0001583	missense	54627	exon1			GCACACGAACATC	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1507G>A	1.37:g.232942276G>A	ENSP00000403208:p.Glu503Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	90	50	0.555556	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	G	17.33	3.362324	0.61403	0.062597	0.0	ENSG00000212916	ENST00000418460	.	.	.	4.69	2.48	0.30137	.	.	.	.	.	T	0.04679	0.0127	M	0.67953	2.075	0.09310	N	1	P	0.49559	0.925	B	0.43052	0.406	T	0.02774	-1.1112	8	0.37606	T	0.19	-11.7864	6.2799	0.21001	0.1287:0.1763:0.695:0.0	rs61735495	361	Q9P2G4	K1383_HUMAN	K	503	.	ENSP00000403208:E503K	E	+	1	0	KIAA1383	231008899	0.003000	0.15002	0.008000	0.14137	0.002000	0.02628	0.383000	0.20651	0.673000	0.31224	0.655000	0.94253	GAA	G|0.988;A|0.012	0.012	strong		0.403	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		A	232942276	G	A	232942276	3	1	22	1	0	0	0	0	1	0	0	0	8228	1059	37	1	1509	1	KIAA1383	1	232942276	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25	232942276	16308345	1086	6194										
KIAA1383	54627	hgsc.bcm.edu	37	chr1	232943513	232943513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagccgggtcacctgtacActcatacagaaaatttcata	6	11	4	1	rs61735509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:232943513A>T	ENST00000418460.1	+	1	2871	c.2744A>T	c.(2743-2745)cAc>cTc	p.H915L		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	773					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TCACCTGTACACTCATACAGA	0.388													A|||	96	0.0191693	0.0696	0.0058	5008	,	,		19105	0.0		0.0	False		,,,				2504	0.0				p.H915L		Atlas-SNP	.											.	.	.	.	0			c.A2744T						PASS	.	A	LEU/HIS	220,3454		5,210,1622	47	47	47		2744	-4.8	0	1	dbSNP_129	47	6,8134		0,6,4064	yes	missense	KIAA1383	NM_019090.2	99	5,216,5686	TT,TA,AA		0.0737,5.988,1.913	benign	915/1048	232943513	226,11588	1837	4070	5907	SO:0001583	missense	54627	exon1			CTGTACACTCATA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2744A>T	1.37:g.232943513A>T	ENSP00000403208:p.His915Leu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	106	55	0.518868	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	26	0.011904761904761904	24	0.04878048780487805	2	0.0055248618784530384	0	0.0	0	0.0	A	0.104	-1.148237	0.01714	0.05988	7.37E-4	ENSG00000212916	ENST00000418460	.	.	.	5.94	-4.76	0.03229	.	1.184600	0.06521	N	0.739754	T	0.01489	0.0048	N	0.16307	0.4	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.20207	-1.0282	9	0.11485	T	0.65	0.0447	0.8514	0.01173	0.2763:0.1074:0.2072:0.409	rs61735509	773	Q9P2G4	K1383_HUMAN	L	915	.	ENSP00000403208:H915L	H	+	2	0	KIAA1383	231010136	0.000000	0.05858	0.012000	0.15200	0.035000	0.12851	0.776000	0.26704	-0.904000	0.03876	0.482000	0.46254	CAC	A|0.989;T|0.011	0.011	strong		0.388	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		T	232943513	A	T	232943513	3	4	22	1	0	0	0	0	1	0	0	0	8228	159	6	5	2746	5	KIAA1383	1	232943513	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1237	232943513	16307108	1087	6195										
PCNXL2	80003	hgsc.bcm.edu	37	chr1	233225848	233225848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcactggcctgacatatgaTgtgatgaaaatgacactccc	8	10	1	5	rs12059884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:233225848T>C	ENST00000258229.9	-	23	4269	c.4035A>G	c.(4033-4035)acA>acG	p.T1345T		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1345						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGACATATGATGTGATGAAAA	0.413													T|||	669	0.133586	0.3548	0.1066	5008	,	,		17968	0.0		0.1014	False		,,,				2504	0.0245				p.T1345T		Atlas-SNP	.											.	PCNXL2	204	.	0			c.A4035G						PASS	.	T		1090,2644		175,740,952	115	110	112		4035	-11.7	0	1	dbSNP_120	112	1008,7208		59,890,3159	no	coding-synonymous	PCNXL2	NM_014801.3		234,1630,4111	CC,CT,TT		12.2687,29.1912,17.5565		1345/2138	233225848	2098,9852	1867	4108	5975	SO:0001819	synonymous_variant	80003	exon23			ATATGATGTGATG	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4035A>G	1.37:g.233225848T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	131	67	0.51145	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			T|0.854;C|0.146	0.146	strong		0.413	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		C	233225848	T	C	233225848	2	2	22	1	0	0	0	0	0	0	0	1	11592	1451	51	2		2	PCNXL2	1	233225848	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	282335	233225848	16024773	1088	6196										
PCNXL2	80003	hgsc.bcm.edu	37	chr1	233388242	233388242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctttgtctattgccctgAaaacttaacacatataaaag	5	8	2	1	rs6682865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:233388242A>G	ENST00000258229.9	-	7	2220	c.1986T>C	c.(1984-1986)ttT>ttC	p.F662F	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	662						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TATTGCCCTGAAAACTTAACA	0.368													G|||	173	0.0345447	0.0749	0.013	5008	,	,		19108	0.0139		0.0149	False		,,,				2504	0.0368				p.F662F		Atlas-SNP	.											.	PCNXL2	204	.	0			c.T1986C						PASS	.	G		246,3400		7,232,1584	105	99	101		1986	2.5	1	1	dbSNP_116	101	82,8088		0,82,4003	no	coding-synonymous	PCNXL2	NM_014801.3		7,314,5587	GG,GA,AA		1.0037,6.7471,2.7759		662/2138	233388242	328,11488	1823	4085	5908	SO:0001819	synonymous_variant	80003	exon7			GCCCTGAAAACTT	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1986T>C	1.37:g.233388242A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	160	80	0.5	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			A|0.968;G|0.032	0.032	strong		0.368	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		G	233388242	A	G	233388242	2	3	22	1	0	0	0	0	0	0	0	1	11592	243	9	2		2	PCNXL2	1	233388242	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	162394	233388242	15862379	1089	6197										
KIAA1804	84451	hgsc.bcm.edu	37	chr1	233489682	233489682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccacctgccctgagccGtttgccaagctcatgaaagg	9	15	1	2	rs56268427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:233489682G>A	ENST00000366624.3	+	3	1377	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	MLK4_ENST00000366623.3_Silent_p.P372P	NM_032435.2	NP_115811.2																					GCCCTGAGCCGTTTGCCAAGC	0.468													G|||	255	0.0509185	0.1823	0.0173	5008	,	,		18556	0.0		0.002	False		,,,				2504	0.0				p.P372P		Atlas-SNP	.											.	KIAA1804	129	.	0			c.G1116A						PASS	.	G		698,3708	291.0+/-281.2	53,592,1558	126	110	116		1116	-9.8	0.1	1	dbSNP_129	116	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	KIAA1804	NM_032435.2		53,599,5851	AA,AG,GG		0.0814,15.842,5.4206		372/1037	233489682	705,12301	2203	4300	6503	SO:0001819	synonymous_variant	0	exon3			TGAGCCGTTTGCC																												ENST00000366624.3:c.1116G>A	1.37:g.233489682G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	212	107	0.504717	NM_032435		Silent	SNP	ENST00000366624.3	37	CCDS1598.1																																																																																			G|0.951;A|0.049	0.049	strong		0.468	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			A	233489682	G	A	233489682	2	1	22	1	0	0	0	0	0	0	0	1	8259	1132	40	1		1	KIAA1804	1	233489682	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101440	233489682	15760939	1090	6198										
SLC35F3	148641	hgsc.bcm.edu	37	chr1	234041422	234041422	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatctcaccagcgggccGgtggggctcacgtccatcga	15	13	2	0	rs57010808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234041422G>C	ENST00000366618.3	+	2	346	c.201G>C	c.(199-201)ccG>ccC	p.P67P		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	408					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCAGCGGGCCGGTGGGGCTCA	0.622													C|||	2257	0.450679	0.4387	0.3127	5008	,	,		16969	0.4474		0.4742	False		,,,				2504	0.544				p.P67P		Atlas-SNP	.											.	SLC35F3	81	.	0			c.G201C						PASS	.	C		1996,2410	611.4+/-391.8	451,1094,658	69	69	69		201	-10.5	0.5	1	dbSNP_129	69	4459,4141	563.0+/-388.1	1156,2147,997	no	coding-synonymous	SLC35F3	NM_173508.2		1607,3241,1655	CC,CG,GG		48.1512,45.3019,49.6309		67/491	234041422	6455,6551	2203	4300	6503	SO:0001819	synonymous_variant	148641	exon2			CGGGCCGGTGGGG		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.201G>C	1.37:g.234041422G>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_173508	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366618.3	37	CCDS1600.1																																																																																			G|0.531;C|0.469	0.469	strong		0.622	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		C	234041422	G	C	234041422	2	2	22	1	0	0	0	0	0	0	0	1	14590	1103	39	4		4	SLC35F3	1	234041422	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	551740	234041422	15209199	1091	6199										
TARBP1	6894	hgsc.bcm.edu	37	chr1	234529519	234529519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggaaacacgactgttccaCgggataatcttcttctgaac	8	11	3	1	rs1802871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234529519C>T	ENST00000040877.1	-	27	4307	c.4308G>A	c.(4306-4308)ccG>ccA	p.P1436P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1436					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GACTGTTCCACGGGATAATCT	0.468													C|||	1147	0.229034	0.5401	0.1844	5008	,	,		17469	0.0853		0.0875	False		,,,				2504	0.1339				p.P1436P		Atlas-SNP	.											TARBP1,caecum,carcinoma,0,1	TARBP1	111	1	0			c.G4308A						PASS	.	C		2025,2381	564.2+/-381.4	474,1077,652	97	101	100		4308	-8.7	0.1	1	dbSNP_89	100	710,7890	173.7+/-224.2	32,646,3622	no	coding-synonymous	TARBP1	NM_005646.3		506,1723,4274	TT,TC,CC		8.2558,45.9601,21.0288		1436/1622	234529519	2735,10271	2203	4300	6503	SO:0001819	synonymous_variant	6894	exon27			GTTCCACGGGATA		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4308G>A	1.37:g.234529519C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	154	68	0.441558	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			C|0.797;T|0.203	0.203	strong		0.468	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234529519	C	T	234529519	2	4	22	1	0	0	0	0	0	0	0	1	15552	523	19	1		1	TARBP1	1	234529519	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	488097	234529519	14721102	1092	6200			6	35	50911826	3	3	34	N	G_C	6.676764e-05
TARBP1	6894	hgsc.bcm.edu	37	chr1	234529540	234529540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggataatcttcttctgaacGtcggtccactccgcttggtt	10	11	3	1	rs1134756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234529540G>A	ENST00000040877.1	-	27	4286	c.4287C>T	c.(4285-4287)gaC>gaT	p.D1429D	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1429					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTTCTGAACGTCGGTCCACT	0.423													G|||	1147	0.229034	0.5401	0.1844	5008	,	,		17146	0.0853		0.0875	False		,,,				2504	0.1339				p.D1429D		Atlas-SNP	.											.	TARBP1	111	.	0			c.C4287T						PASS	.	G		2023,2383	563.2+/-381.1	474,1075,654	89	93	92		4287	-2.1	0.1	1	dbSNP_86	92	713,7887	173.9+/-224.3	33,647,3620	no	coding-synonymous	TARBP1	NM_005646.3		507,1722,4274	AA,AG,GG		8.2907,45.9147,21.0364		1429/1622	234529540	2736,10270	2203	4300	6503	SO:0001819	synonymous_variant	6894	exon27			CTGAACGTCGGTC		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4287C>T	1.37:g.234529540G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	142	64	0.450704	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			G|0.798;A|0.202	0.202	strong		0.423	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		A	234529540	G	A	234529540	2	1	22	1	0	0	0	0	0	0	0	1	15552	1136	40	1		1	TARBP1	1	234529540	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21	234529540	14721081	1093	6201			6	35	50911826	3	3	34	N	G_C	6.676764e-05
TARBP1	6894	hgsc.bcm.edu	37	chr1	234529552	234529552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgaacgtcggtccactcCgcttggttatctgcttcgac	9	13	2	1	rs2175594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234529552C>T	ENST00000040877.1	-	27	4274	c.4275G>A	c.(4273-4275)gcG>gcA	p.A1425A	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1425					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CGGTCCACTCCGCTTGGTTAT	0.423													C|||	2554	0.509984	0.6225	0.5692	5008	,	,		17424	0.495		0.4384	False		,,,				2504	0.4049				p.A1425A		Atlas-SNP	.											.	TARBP1	111	.	0			c.G4275A						PASS	.	C		2594,1812	636.1+/-396.5	786,1022,395	77	82	81		4275	-7.5	0	1	dbSNP_96	81	3737,4863	530.8+/-381.9	806,2125,1369	no	coding-synonymous	TARBP1	NM_005646.3		1592,3147,1764	TT,TC,CC		43.4535,41.1257,48.6775		1425/1622	234529552	6331,6675	2203	4300	6503	SO:0001819	synonymous_variant	6894	exon27			CCACTCCGCTTGG		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4275G>A	1.37:g.234529552C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	136	61	0.448529	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			C|0.508;T|0.492	0.492	strong		0.423	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234529552	C	T	234529552	2	4	22	1	0	0	0	0	0	0	0	1	15552	639	23	1		1	TARBP1	1	234529552	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	234529552	14721069	1094	6202			6	35	50911826	3	3	34	N	G_C	6.676764e-05
TARBP1	6894	hgsc.bcm.edu	37	chr1	234546245	234546245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgataaaactgctaaaaaCgtacaaatgcttgttttaag	7	5	0	1	rs1141264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234546245C>T	ENST00000040877.1	-	23	3737	c.3738G>A	c.(3736-3738)acG>acA	p.T1246T	TARBP1_ENST00000483404.1_5'Flank	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1246					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGCTAAAAACGTACAAATGC	0.284													T|||	1688	0.337061	0.211	0.3847	5008	,	,		18371	0.3958		0.3907	False		,,,				2504	0.3579				p.T1246T		Atlas-SNP	.											.	TARBP1	111	.	0			c.G3738A						PASS	.	T		1057,3343	692.5+/-405.5	132,793,1275	53	57	55		3738	-0.3	1	1	dbSNP_86	55	3311,5281	633.0+/-398.7	618,2075,1603	no	coding-synonymous	TARBP1	NM_005646.3		750,2868,2878	TT,TC,CC		38.5358,24.0227,33.6207		1246/1622	234546245	4368,8624	2200	4296	6496	SO:0001819	synonymous_variant	6894	exon23			TAAAAACGTACAA		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3738G>A	1.37:g.234546245C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	186	89	0.478495	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			C|0.658;T|0.342	0.342	strong		0.284	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234546245	C	T	234546245	2	4	22	1	0	0	0	0	0	0	0	1	15552	523	19	1		1	TARBP1	1	234546245	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16693	234546245	14704376	1095	6203										
TARBP1	6894	hgsc.bcm.edu	37	chr1	234595070	234595070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatagtgcaatgaataacaTccctgacatcgaaacacaaa	5	10	1	2	rs35562024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234595070T>C	ENST00000040877.1	-	8	1537	c.1538A>G	c.(1537-1539)gAt>gGt	p.D513G		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	513			D -> G (in dbSNP:rs35562024).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGAATAACATCCCTGACATC	0.378													T|||	78	0.0155751	0.053	0.0072	5008	,	,		19358	0.0		0.003	False		,,,				2504	0.0				p.D513G		Atlas-SNP	.											.	TARBP1	111	.	0			c.A1538G						PASS	.	T	GLY/ASP	242,4164	141.1+/-176.5	14,214,1975	111	101	104		1538	2	0.4	1	dbSNP_126	104	55,8545	33.8+/-87.4	0,55,4245	yes	missense	TARBP1	NM_005646.3	94	14,269,6220	CC,CT,TT		0.6395,5.4925,2.2836	probably-damaging	513/1622	234595070	297,12709	2203	4300	6503	SO:0001583	missense	6894	exon8			ATAACATCCCTGA		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1538A>G	1.37:g.234595070T>C	ENSP00000040877:p.Asp513Gly	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	77	38	0.493506	NM_005646	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	26	0.011904761904761904	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	11.32	1.603675	0.28534	0.054925	0.006395	ENSG00000059588	ENST00000040877	T	0.06371	3.31	5.67	2.0	0.26442	.	0.273360	0.41823	N	0.000805	T	0.01092	0.0036	M	0.65975	2.015	0.44000	D	0.996702	B	0.19200	0.034	B	0.15052	0.012	T	0.22800	-1.0206	10	0.66056	D	0.02	-15.9034	6.0978	0.20031	0.121:0.1334:0.0:0.7455	rs35562024	513	Q13395	TARB1_HUMAN	G	513	ENSP00000040877:D513G	ENSP00000040877:D513G	D	-	2	0	TARBP1	232661693	0.998000	0.40836	0.374000	0.26016	0.481000	0.33189	2.918000	0.48829	0.139000	0.18822	0.533000	0.62120	GAT	T|0.982;C|0.018	0.018	strong		0.378	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234595070	T	C	234595070	3	2	22	1	0	0	0	0	1	0	0	0	15552	1435	50	2	3419	2	TARBP1	1	234595070	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48825	234595070	14655551	1096	6204										
IRF2BP2	359948	hgsc.bcm.edu	37	chr1	234743492	234743492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatggggatcttgagcccCtctgtggatgtggacagcca	14	10	3	1	rs14739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:234743492C>T	ENST00000366609.3	-	2	1185	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Silent_p.E369E	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			TCTTGAGCCCCTCTGTGGATG	0.597													T|||	636	0.126997	0.4508	0.0533	5008	,	,		17358	0.0		0.001	False		,,,				2504	0.002				p.E385E		Atlas-SNP	.											.	IRF2BP2	37	.	0			c.G1155A						PASS	.	T	,	1744,2662	646.1+/-398.3	337,1070,796	102	117	112		1107,1155	3.2	1	1	dbSNP_52	112	13,8587	818.4+/-406.9	0,13,4287	no	coding-synonymous,coding-synonymous	IRF2BP2	NM_001077397.1,NM_182972.2	,	337,1083,5083	TT,TC,CC		0.1512,39.5824,13.5091	,	369/572,385/588	234743492	1757,11249	2203	4300	6503	SO:0001819	synonymous_variant	359948	exon2			GAGCCCCTCTGTG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1155G>A	1.37:g.234743492C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	117	115	0.982906	NM_182972	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																			C|0.863;T|0.137	0.137	strong		0.597	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		T	234743492	C	T	234743492	2	4	22	1	0	0	0	0	0	0	0	1	7830	680	24	2		2	IRF2BP2	1	234743492	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148422	234743492	14507129	1097	6205										
RBM34	23029	hgsc.bcm.edu	37	chr1	235324298	235324298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccacctctggaatggtgTtcgccgcgaaataagctact	11	11	1	0	rs2295815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235324298T>C	ENST00000408888.3	-	2	368	c.138A>G	c.(136-138)gaA>gaG	p.E46E	RBM34_ENST00000366606.3_Silent_p.E41E			P42696	RBM34_HUMAN	RNA binding motif protein 34	46						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGGAATGGTGTTCGCCGCGAA	0.577													C|||	840	0.167732	0.4009	0.121	5008	,	,		14732	0.0208		0.1233	False		,,,				2504	0.0828				p.E46E		Atlas-SNP	.											.	RBM34	41	.	0			c.A138G						PASS	.	C	,	1487,2415		281,925,745	41	47	45		138,138	3.3	0	1	dbSNP_100	45	1064,7222		65,934,3144	yes	coding-synonymous,coding-synonymous	RBM34	NM_001161533.1,NM_015014.2	,	346,1859,3889	CC,CT,TT		12.8409,38.1087,20.9304	,	46/226,46/431	235324298	2551,9637	1951	4143	6094	SO:0001819	synonymous_variant	23029	exon2			ATGGTGTTCGCCG		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.138A>G	1.37:g.235324298T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_001161533	A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	CCDS41477.2																																																																																			T|0.850;C|0.150	0.150	strong		0.577	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		C	235324298	T	C	235324298	2	2	22	1	0	0	0	0	0	0	0	1	13131	1722	60	2		2	RBM34	1	235324298	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	580806	235324298	13926323	1098	6206										
ARID4B	51742	hgsc.bcm.edu	37	chr1	235357460	235357460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaatggtggtttggacaAgcgccgaagtttacagtttt	12	6	0	1	rs62000435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235357460A>G	ENST00000264183.3	-	19	2490	c.1993T>C	c.(1993-1995)Ttg>Ctg	p.L665L	ARID4B_ENST00000366603.2_Silent_p.L665L|ARID4B_ENST00000349213.3_Silent_p.L579L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	665					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGTTTGGACAAGCGCCGAAGT	0.343													A|||	25	0.00499201	0.0174	0.0029	5008	,	,		16650	0.0		0.0	False		,,,				2504	0.0				p.L665L		Atlas-SNP	.											.	ARID4B	142	.	0			c.T1993C						PASS	.	A	,,	112,4294	82.4+/-120.9	1,110,2092	144	135	138		1993,1993,1735	3.9	1	1	dbSNP_129	138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	1,112,6390	GG,GA,AA		0.0233,2.542,0.8765	,,	665/1313,665/1313,579/1227	235357460	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	51742	exon19			TGGACAAGCGCCG	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1993T>C	1.37:g.235357460A>G		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	191	100	0.52356	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1																																																																																			A|0.992;G|0.008	0.008	strong		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		G	235357460	A	G	235357460	2	3	22	1	0	0	0	0	0	0	0	1	920	69	3	3		3	ARID4B	1	235357460	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33162	235357460	13893161	1099	6207										
ARID4B	51742	hgsc.bcm.edu	37	chr1	235377279	235377281	+	In_Frame_Del	DEL	TCC	TCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcatcctcttcttcttctTcctcctcctcctcctcttct					rs113894806|rs10588817|rs113458177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235377279_235377281delTCC	ENST00000264183.3	-	17	2141_2143	c.1644_1646delGGA	c.(1642-1647)gaggaa>gaa	p.548_549EE>E	ARID4B_ENST00000366603.2_In_Frame_Del_p.548_549EE>E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	548	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E548E(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ttcttcttcttcctcctcctcct	0.414														183	0.0365415	0.1203	0.0144	5008	,	,		17403	0.001		0.008	False		,,,				2504	0.0051				p.549_549del		Pindel,Atlas-Indel	.											.	ARID4B	142	.	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)	c.1645_1647del						PASS	.																																			SO:0001651	inframe_deletion	51742	exon17			.	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1644_1646delGGA	1.37:g.235377288_235377290delTCC	ENSP00000264183:p.Glu553del	Somatic	137	.	.		WXS	Illumina HiSeq	Phase_I	176	28	0.159	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	In_Frame_Del	DEL	ENST00000264183.3	37	CCDS31061.1																																																																																			TCC|0.967;-|0.033	0.033	strong		0.414	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		-	235377281	TCC	-	235377279	7	5	22	1	0	1	0	1	0	0	0	0	920	1783	62	0	2324	0	ARID4B	1	235377279	In_Frame_Del	DEL	TCC	TCGA-G8-6324-01A-11D-2210-10	19819	235377279	13873342	1100	6208										
ARID4B	51742	hgsc.bcm.edu	37	chr1	235392546	235392546	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcaactgttttcacttacTtcttcttcactgctattatc	2	11	5	0	rs17846600|rs12731746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235392546T>C	ENST00000264183.3	-	11	1394	c.897A>G	c.(895-897)gaA>gaG	p.E299E	ARID4B_ENST00000366603.2_Splice_Site_p.E299E|ARID4B_ENST00000349213.3_Splice_Site_p.E299E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	299	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACTTACTTCTTCTTCAC	0.348													C|||	2247	0.448682	0.4342	0.5086	5008	,	,		17805	0.251		0.4791	False		,,,				2504	0.5982				p.E299E		Atlas-SNP	.											.	ARID4B	142	.	0			c.A897G						PASS	.	C	,,	2060,2346	605.0+/-390.5	474,1112,617	95	88	90		897,897,897	4	1	1	dbSNP_121	90	3983,4617	598.5+/-393.9	920,2143,1237	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	1394,3255,1854	CC,CT,TT		46.314,46.7544,46.4632	,,	299/1313,299/1313,299/1227	235392546	6043,6963	2203	4300	6503	SO:0001630	splice_region_variant	51742	exon11			ACTTACTTCTTCT	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.897+1A>G	1.37:g.235392546T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	156	155	0.99359	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1																																																																																			T|0.545;C|0.455	0.455	strong		0.348	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Silent	C	235392546	T	C	235392546	5	2	22	1	0	0	0	0	0	0	1	0	920	1623	56	3	3097	3	ARID4B	1	235392546	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15267	235392546	13858075	1101	6209										
LYST	1130	hgsc.bcm.edu	37	chr1	235933535	235933535	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttaatattaaacatctgCtggtggtgatctgctctgat	9	7	3	2	rs6665568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235933535C>G	ENST00000389794.3	-	20	6021	c.5847G>C	c.(5845-5847)caG>caC	p.Q1949H	LYST_ENST00000389793.2_Missense_Mutation_p.Q1949H|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1949			Q -> H (in dbSNP:rs6665568).		blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAAACATCTGCTGGTGGTGAT	0.388													C|||	308	0.0615016	0.2194	0.0245	5008	,	,		17686	0.0		0.001	False		,,,				2504	0.0				p.Q1949H		Atlas-SNP	.											.	LYST	370	.	0			c.G5847C						PASS	.	C	HIS/GLN	828,3578	327.5+/-300.1	76,676,1451	128	132	131		5847	0.8	0.7	1	dbSNP_116	131	10,8590	6.4+/-24.3	0,10,4290	yes	missense	LYST	NM_000081.2	24	76,686,5741	GG,GC,CC		0.1163,18.7926,6.4432	benign	1949/3802	235933535	838,12168	2203	4300	6503	SO:0001583	missense	1130	exon20			CATCTGCTGGTGG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5847G>C	1.37:g.235933535C>G	ENSP00000374444:p.Gln1949His	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	154	74	0.480519	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	115	0.052655677655677656	108	0.21951219512195122	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	C	8.986	0.976514	0.18736	0.187926	0.001163	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61158	0.13;0.13	5.48	0.809	0.18725	.	0.630262	0.18067	N	0.152750	T	0.00012	0.0000	N	0.17082	0.46	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.11966	-1.0566	9	0.13853	T	0.58	.	2.9878	0.05973	0.217:0.4875:0.1067:0.1888	rs6665568;rs52790740;rs6665568	1949	Q99698	LYST_HUMAN	H	1949	ENSP00000374444:Q1949H;ENSP00000374443:Q1949H	ENSP00000374443:Q1949H	Q	-	3	2	LYST	234000158	0.152000	0.22762	0.656000	0.29637	0.957000	0.61999	-0.438000	0.06905	0.266000	0.21894	0.650000	0.86243	CAG	C|0.943;G|0.057	0.057	strong		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			G	235933535	C	G	235933535	3	3	22	1	0	0	0	0	1	0	0	0	9128	796	28	4	5694	4	LYST	1	235933535	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	540989	235933535	13317086	1102	6210										
LYST	1130	hgsc.bcm.edu	37	chr1	235945294	235945294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaactcttcttgggatgaTaaacaatggccaatcatgca	7	8	3	1	rs6696123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235945294T>C	ENST00000389794.3	-	15	5130	c.4956A>G	c.(4954-4956)ttA>ttG	p.L1652L	LYST_ENST00000389793.2_Silent_p.L1652L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1652					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGGATGATAAACAATGGC	0.393													T|||	1520	0.303514	0.4879	0.2997	5008	,	,		15207	0.0655		0.4254	False		,,,				2504	0.1769				p.L1652L		Atlas-SNP	.											.	LYST	370	.	0			c.A4956G						PASS	.	T		2237,2169	593.4+/-388.0	570,1097,536	108	106	107		4956	-6.4	0.4	1	dbSNP_116	107	3435,5165	506.2+/-376.5	679,2077,1544	no	coding-synonymous	LYST	NM_000081.2		1249,3174,2080	CC,CT,TT		39.9419,49.2283,43.6106		1652/3802	235945294	5672,7334	2203	4300	6503	SO:0001819	synonymous_variant	1130	exon15			GGATGATAAACAA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4956A>G	1.37:g.235945294T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	101	59	0.584158	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																			T|0.614;C|0.386	0.386	strong		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235945294	T	C	235945294	2	2	22	1	0	0	0	0	0	0	0	1	9128	1403	49	2		2	LYST	1	235945294	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11759	235945294	13305327	1103	6211										
LYST	1130	hgsc.bcm.edu	37	chr1	235971802	235971802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacataaatctgaagcacGtcctgaggcaagcactggtt	9	9	1	2	rs16832868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235971802G>A	ENST00000389794.3	-	5	2490	c.2316C>T	c.(2314-2316)gaC>gaT	p.D772D	LYST_ENST00000389793.2_Silent_p.D772D|LYST_ENST00000536965.1_Silent_p.D772D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	772					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTGAAGCACGTCCTGAGGCA	0.468													G|||	309	0.0617013	0.2201	0.0245	5008	,	,		17331	0.0		0.001	False		,,,				2504	0.0				p.D772D		Atlas-SNP	.											.	LYST	370	.	0			c.C2316T						PASS	.	G		827,3579	328.3+/-300.5	75,677,1451	88	86	87		2316	3.5	1	1	dbSNP_123	87	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	LYST	NM_000081.2		75,687,5741	AA,AG,GG		0.1163,18.7699,6.4355		772/3802	235971802	837,12169	2203	4300	6503	SO:0001819	synonymous_variant	1130	exon5			AAGCACGTCCTGA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2316C>T	1.37:g.235971802G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	173	90	0.520231	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																			G|0.934;A|0.066	0.066	strong		0.468	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235971802	G	A	235971802	2	1	22	1	0	0	0	0	0	0	0	1	9128	1136	40	1		1	LYST	1	235971802	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26508	235971802	13278819	1104	6212										
LYST	1130	hgsc.bcm.edu	37	chr1	235972435	235972435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctcaaggaagcctgctgTagtaagcgcaagcactgatg	12	10	1	1	rs3820553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235972435T>C	ENST00000389794.3	-	5	1857	c.1683A>G	c.(1681-1683)ctA>ctG	p.L561L	LYST_ENST00000389793.2_Silent_p.L561L|LYST_ENST00000536965.1_Silent_p.L561L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	561					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGCCTGCTGTAGTAAGCGCA	0.448													T|||	1516	0.302716	0.4879	0.2983	5008	,	,		19124	0.0665		0.4235	False		,,,				2504	0.1748				p.L561L		Atlas-SNP	.											.	LYST	370	.	0			c.A1683G						PASS	.	T		2242,2164	591.9+/-387.7	572,1098,533	108	102	104		1683	-4.2	0.3	1	dbSNP_107	104	3437,5163	502.3+/-375.6	680,2077,1543	no	coding-synonymous	LYST	NM_000081.2		1252,3175,2076	CC,CT,TT		39.9651,49.1148,43.6645		561/3802	235972435	5679,7327	2203	4300	6503	SO:0001819	synonymous_variant	1130	exon5			CTGCTGTAGTAAG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1683A>G	1.37:g.235972435T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	124	62	0.5	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																			T|0.616;C|0.384	0.384	strong		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235972435	T	C	235972435	2	2	22	1	0	0	0	0	0	0	0	1	9128	1625	57	2		2	LYST	1	235972435	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	633	235972435	13278186	1105	6213										
LYST	1130	hgsc.bcm.edu	37	chr1	235972867	235972867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggatttgaagctgcactTtgaagacaacagatcagaat	10	6	1	5	rs1063128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:235972867T>C	ENST00000389794.3	-	5	1425	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q	LYST_ENST00000389793.2_Silent_p.Q417Q|LYST_ENST00000536965.1_Silent_p.Q417Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	417					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGCTGCACTTTGAAGACAAC	0.378													T|||	1519	0.303315	0.4887	0.2997	5008	,	,		19059	0.0655		0.4254	False		,,,				2504	0.1748				p.Q417Q		Atlas-SNP	.											.	LYST	370	.	0			c.A1251G						PASS	.	T		2242,2164	582.9+/-385.7	572,1098,533	82	86	85		1251	-1.2	1	1	dbSNP_86	85	3435,5165	503.9+/-376.0	678,2079,1543	no	coding-synonymous	LYST	NM_000081.2		1250,3177,2076	CC,CT,TT		39.9419,49.1148,43.6491		417/3802	235972867	5677,7329	2203	4300	6503	SO:0001819	synonymous_variant	1130	exon5			TGCACTTTGAAGA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1251A>G	1.37:g.235972867T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																			T|0.619;C|0.381	0.381	strong		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235972867	T	C	235972867	2	2	22	1	0	0	0	0	0	0	0	1	9128	1838	64	2		2	LYST	1	235972867	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	432	235972867	13277754	1106	6214										
ERO1LB	56605	hgsc.bcm.edu	37	chr1	236381825	236381825	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagcctttattacctactGtgttgtaataagactttaaa					rs1055851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:236381825G>C	ENST00000354619.5	-	16	1596	c.1395C>G	c.(1393-1395)caC>caG	p.H465Q	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	465			H -> Q (in dbSNP:rs1055851). {ECO:0000269|PubMed:10818100}.		4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ATTACCTACTGTGTTGTAATA	0.323													G|||	2851	0.569289	0.4803	0.5821	5008	,	,		15123	0.8839		0.4006	False		,,,				2504	0.5297				p.H465Q		Atlas-SNP	.											.	ERO1LB	48	.	0			c.C1395G						PASS	.	G	GLN/HIS	2147,2251	560.0+/-380.4	511,1125,563	57	63	61		1395	4.6	1	1	dbSNP_86	61	3443,5119	496.6+/-374.3	679,2085,1517	yes	missense	ERO1LB	NM_019891.3	24	1190,3210,2080	CC,CG,GG		40.2126,48.8176,43.1327	benign	465/468	236381825	5590,7370	2199	4281	6480	SO:0001583	missense	56605	exon16			CCTACTGTGTTGT	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1395C>G	1.37:g.236381825G>C	ENSP00000346635:p.His465Gln	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	227	101	0.444934	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	1234	0.565018315018315	229	0.4654471544715447	209	0.5773480662983426	509	0.8898601398601399	287	0.3786279683377309	G	9.953	1.220760	0.22457	0.488176	0.402126	ENSG00000086619	ENST00000354619	T	0.29397	1.57	5.54	4.62	0.57501	.	0.301526	0.36932	N	0.002322	T	0.00012	0.0000	N	0.04508	-0.205	0.09310	P	0.9999999999999994	B	0.06786	0.001	B	0.04013	0.001	T	0.37731	-0.9693	9	0.21014	T	0.42	-19.4628	10.5749	0.45221	0.0766:0.169:0.7544:0.0	rs1055851;rs1749597;rs3196339;rs10317930;rs12735870;rs52808904;rs1055851	465	Q86YB8	ERO1B_HUMAN	Q	465	ENSP00000346635:H465Q	ENSP00000346635:H465Q	H	-	3	2	ERO1LB	234448448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.371000	0.20450	2.600000	0.87896	0.650000	0.86243	CAC	G|0.530;C|0.470	0.470	strong		0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		C	236381825	G	C	236381825	3	2	22	1	0	0	0	0	1	0	0	0	5240	1368	48	4	12	4	ERO1LB	1	236381825	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	408958	236381825	12868796	1107	6215	128	2								
ERO1LB	56605	hgsc.bcm.edu	37	chr1	236381833	236381833	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattacctactgtgttgtaAtaagactttaaaattctgta					rs11811758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:236381833A>G	ENST00000354619.5	-	16	1588	c.1387T>C	c.(1387-1389)Tta>Cta	p.L463L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	463					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CTGTGTTGTAATAAGACTTTA	0.318													A|||	231	0.0461262	0.1626	0.0216	5008	,	,		15266	0.0		0.001	False		,,,				2504	0.0				p.L463L		Atlas-SNP	.											.	ERO1LB	48	.	0			c.T1387C						PASS	.	A		620,3778	261.0+/-264.0	45,530,1624	57	63	61		1387	-4.8	0.8	1	dbSNP_120	61	8,8554	6.4+/-24.3	0,8,4273	no	coding-synonymous	ERO1LB	NM_019891.3		45,538,5897	GG,GA,AA		0.0934,14.0973,4.8457		463/468	236381833	628,12332	2199	4281	6480	SO:0001819	synonymous_variant	56605	exon16			GTTGTAATAAGAC	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1387T>C	1.37:g.236381833A>G		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	216	121	0.560185	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Silent	SNP	ENST00000354619.5	37	CCDS31064.1																																																																																			A|0.961;G|0.039	0.039	strong		0.318	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		G	236381833	A	G	236381833	2	3	22	1	0	0	0	0	0	0	0	1	5240	98	4	2		2	ERO1LB	1	236381833	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	236381833	12868788	1108	6216	128	2								
HEATR1	55127	hgsc.bcm.edu	37	chr1	236760181	236760181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgatgatattgtctgatacGtcctctgcagctaccagcgc	10	12	2	2	rs12135515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:236760181G>A	ENST00000366582.3	-	6	813	c.699C>T	c.(697-699)gaC>gaT	p.D233D	HEATR1_ENST00000366581.2_Silent_p.D233D|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	233					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTCTGATACGTCCTCTGCAG	0.443													G|||	93	0.0185703	0.0356	0.0115	5008	,	,		16828	0.005		0.0139	False		,,,				2504	0.0194				p.D233D		Atlas-SNP	.											.	HEATR1	197	.	0			c.C699T						PASS	.	G		186,4220	119.2+/-156.9	3,180,2020	133	128	130		699	-3.7	0	1	dbSNP_120	130	147,8453	71.6+/-134.2	2,143,4155	no	coding-synonymous	HEATR1	NM_018072.5		5,323,6175	AA,AG,GG		1.7093,4.2215,2.5604		233/2145	236760181	333,12673	2203	4300	6503	SO:0001819	synonymous_variant	55127	exon6			TGATACGTCCTCT	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.699C>T	1.37:g.236760181G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	114	46	0.403509	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																			G|0.979;A|0.021	0.021	strong		0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236760181	G	A	236760181	2	1	22	1	0	0	0	0	0	0	0	1	7027	1136	40	1		1	HEATR1	1	236760181	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	378348	236760181	12490440	1109	6217										
RYR2	6262	hgsc.bcm.edu	37	chr1	237620034	237620034	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctctgtatgagttgctGggtaagaagcatgattgggt	13	4	1	3	rs78281932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:237620034G>A	ENST00000366574.2	+	16	1928	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	RYR2_ENST00000542537.1_Splice_Site_p.L521L|RYR2_ENST00000360064.6_Splice_Site_p.L535L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	537					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAGTTGCTGGGTAAGAAGC	0.433													G|||	300	0.0599042	0.2148	0.0202	5008	,	,		18734	0.0		0.001	False		,,,				2504	0.001				p.L537L		Atlas-SNP	.											.	RYR2	1273	.	0			c.G1611A						PASS	.	G		683,3123		48,587,1268	158	154	155		1611	-3	1	1	dbSNP_131	155	10,8242		0,10,4116	yes	coding-synonymous-near-splice	RYR2	NM_001035.2		48,597,5384	AA,AG,GG		0.1212,17.9453,5.7472		537/4968	237620034	693,11365	1903	4126	6029	SO:0001630	splice_region_variant	6262	exon16			GTTGCTGGGTAAG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1612+1G>A	1.37:g.237620034G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	107	54	0.504673	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			G|0.960;A|0.040	0.040	strong		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Silent	A	237620034	G	A	237620034	5	1	22	1	0	0	0	0	0	0	1	0	13769	1362	47	2	1673	2	RYR2	1	237620034	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	859853	237620034	11630587	1110	6218										
ZP4	57829	hgsc.bcm.edu	37	chr1	238046056	238046056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttacggagcttttctggaGggtccttagtggcttggagt	14	7	1	0	rs35187146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:238046056G>A	ENST00000366570.4	-	11	1639	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	494					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTTTTCTGGAGGGTCCTTAGT	0.418													G|||	98	0.0195687	0.0681	0.0101	5008	,	,		18510	0.0		0.001	False		,,,				2504	0.0				p.P494L	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											.	ZP4	161	.	0			c.C1481T						PASS	.	G	LEU/PRO	232,4174	136.1+/-172.1	4,224,1975	113	113	113		1481	3.3	0	1	dbSNP_126	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZP4	NM_021186.3	98	4,225,6274	AA,AG,GG		0.0116,5.2655,1.7915	benign	494/541	238046056	233,12773	2203	4300	6503	SO:0001583	missense	57829	exon11			TCTGGAGGGTCCT	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1481C>T	1.37:g.238046056G>A	ENSP00000355529:p.Pro494Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	107	44	0.411215	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	G	13.86	2.362971	0.41902	0.052655	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75154	-0.91	4.2	3.29	0.37713	.	1.113200	0.06962	N	0.816574	T	0.11750	0.0286	L	0.38175	1.15	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.13737	-1.0498	10	0.11485	T	0.65	-6.9559	8.323	0.32140	0.1076:0.0:0.8924:0.0	rs35187146	494	Q12836	ZP4_HUMAN	L	494	ENSP00000355529:P494L	ENSP00000355529:P494L	P	-	2	0	ZP4	236112679	0.088000	0.21588	0.002000	0.10522	0.836000	0.47400	2.346000	0.44027	1.146000	0.42352	-0.126000	0.14955	CCT	G|0.985;A|0.015	0.015	strong		0.418	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238046056	G	A	238046056	3	1	22	1	0	0	0	0	1	0	0	0	18215	1000	35	2	149	2	ZP4	1	238046056	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	426022	238046056	11204565	1111	6219										
ZP4	57829	hgsc.bcm.edu	37	chr1	238049143	238049143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaacctggacattgattgGgagagagttgctacttactg	12	6	0	2	rs34811980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:238049143G>A	ENST00000366570.4	-	7	1041	c.883C>T	c.(883-885)Cca>Tca	p.P295S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	295	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		P -> S (in dbSNP:rs34811980).		acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACATTGATTGGGAGAGAGTTG	0.502													G|||	157	0.0313498	0.1112	0.013	5008	,	,		18469	0.0		0.001	False		,,,				2504	0.0				p.P295S	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											.	ZP4	161	.	0			c.C883T						PASS	.	G	SER/PRO	393,4013	196.4+/-220.7	14,365,1824	167	161	163		883	4.8	0.1	1	dbSNP_126	163	6,8594	4.3+/-15.6	0,6,4294	yes	missense	ZP4	NM_021186.3	74	14,371,6118	AA,AG,GG		0.0698,8.9197,3.0678	probably-damaging	295/541	238049143	399,12607	2203	4300	6503	SO:0001583	missense	57829	exon7			TGATTGGGAGAGA	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.883C>T	1.37:g.238049143G>A	ENSP00000355529:p.Pro295Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	94	51	0.542553	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	56	0.02564102564102564	52	0.10569105691056911	4	0.011049723756906077	0	0.0	0	0.0	G	18.15	3.560913	0.65538	0.089197	6.98E-4	ENSG00000116996	ENST00000366570	T	0.81163	-1.46	4.85	4.85	0.62838	Zona pellucida sperm-binding protein (3);	0.124427	0.53938	D	0.000041	T	0.13841	0.0335	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.48514	-0.9029	10	0.34782	T	0.22	-14.4465	10.7036	0.45942	0.0:0.0:0.8094:0.1905	rs34811980	295	Q12836	ZP4_HUMAN	S	295	ENSP00000355529:P295S	ENSP00000355529:P295S	P	-	1	0	ZP4	236115766	0.999000	0.42202	0.076000	0.20297	0.635000	0.38103	3.598000	0.54038	2.242000	0.73789	0.650000	0.86243	CCA	G|0.973;A|0.027	0.027	strong		0.502	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238049143	G	A	238049143	3	1	22	1	0	0	0	0	1	0	0	0	18215	1232	43	2	763	2	ZP4	1	238049143	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3087	238049143	11201478	1112	6220										
ZP4	57829	hgsc.bcm.edu	37	chr1	238050136	238050136	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatccctagttgccaccagTtcattttcatatactgctcg	5	13	2	0	rs520720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:238050136T>C	ENST00000366570.4	-	6	932	c.774A>G	c.(772-774)gaA>gaG	p.E258E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	258	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGCCACCAGTTCATTTTCAT	0.473													T|||	703	0.140375	0.4955	0.0504	5008	,	,		21047	0.0		0.0119	False		,,,				2504	0.001				p.E258E	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											ZP4,NS,carcinoma,-2,1	ZP4	161	1	0			c.A774G						PASS	.	T		1753,2653	522.2+/-370.7	356,1041,806	192	176	182		774	-0.6	0.5	1	dbSNP_83	182	123,8477	62.4+/-124.4	0,123,4177	no	coding-synonymous	ZP4	NM_021186.3		356,1164,4983	CC,CT,TT		1.4302,39.7867,14.4241		258/541	238050136	1876,11130	2203	4300	6503	SO:0001819	synonymous_variant	57829	exon6			CACCAGTTCATTT	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.774A>G	1.37:g.238050136T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	128	62	0.484375	NM_021186	B2RAE1	Silent	SNP	ENST00000366570.4	37	CCDS1615.1																																																																																			T|0.856;C|0.144	0.144	strong		0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			C	238050136	T	C	238050136	2	2	22	1	0	0	0	0	0	0	0	1	18215	1722	60	2		2	ZP4	1	238050136	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	993	238050136	11200485	1113	6221										
ZP4	57829	hgsc.bcm.edu	37	chr1	238053226	238053226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaccaccttgtgttcagccGcgcctgctccttcaactcca	6	17	2	0	rs34370253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:238053226G>A	ENST00000366570.4	-	3	499	c.341C>T	c.(340-342)gCg>gTg	p.A114V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	114			A -> V (in dbSNP:rs34370253).		acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGTTCAGCCGCGCCTGCTCC	0.567													G|||	154	0.0307508	0.1089	0.013	5008	,	,		19719	0.0		0.001	False		,,,				2504	0.0				p.A114V	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											ZP4,caecum,carcinoma,0,1	ZP4	161	1	0			c.C341T						PASS	.	G	VAL/ALA	386,4020	194.0+/-219.0	14,358,1831	199	206	203		341	-6.6	0	1	dbSNP_126	203	6,8594	4.3+/-15.6	0,6,4294	yes	missense	ZP4	NM_021186.3	64	14,364,6125	AA,AG,GG		0.0698,8.7608,3.014	benign	114/541	238053226	392,12614	2203	4300	6503	SO:0001583	missense	57829	exon3			TCAGCCGCGCCTG	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.341C>T	1.37:g.238053226G>A	ENSP00000355529:p.Ala114Val	Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	172	84	0.488372	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	56	0.02564102564102564	52	0.10569105691056911	4	0.011049723756906077	0	0.0	0	0.0	G	0.052	-1.248697	0.01469	0.087608	6.98E-4	ENSG00000116996	ENST00000366570	T	0.74632	-0.86	4.37	-6.58	0.01836	.	0.845246	0.10705	N	0.643569	T	0.00875	0.0029	N	0.11201	0.11	0.09310	N	1	B	0.17667	0.023	B	0.10450	0.005	T	0.13522	-1.0506	10	0.02654	T	1	0.4495	3.7495	0.08561	0.5715:0.1196:0.1878:0.1212	rs34370253	114	Q12836	ZP4_HUMAN	V	114	ENSP00000355529:A114V	ENSP00000355529:A114V	A	-	2	0	ZP4	236119849	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.059000	0.11731	-2.021000	0.00939	-2.828000	0.00107	GCG	G|0.972;A|0.028	0.028	strong		0.567	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238053226	G	A	238053226	3	1	22	1	0	0	0	0	1	0	0	0	18215	1087	38	1	1321	1	ZP4	1	238053226	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3090	238053226	11197395	1114	6222										
FMN2	56776	hgsc.bcm.edu	37	chr1	240370629	240370629	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttctaccgagtttcaaacCagccacgaacactctgtttc	5	13	3	0	rs10926166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:240370629C>G	ENST00000319653.9	+	5	2747	c.2517C>G	c.(2515-2517)acC>acG	p.T839T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	839	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTTTCAAACCAGCCACGAAC	0.557													C|||	1439	0.28734	0.2617	0.2507	5008	,	,		15509	0.1032		0.4066	False		,,,				2504	0.4151				p.T839T		Atlas-SNP	.											.	FMN2	451	.	0			c.C2517G						PASS	.	C		1268,3138	432.0+/-343.1	184,900,1119	95	92	93		2517	3.2	1	1	dbSNP_120	93	3344,5256	494.2+/-373.8	636,2072,1592	no	coding-synonymous	FMN2	NM_020066.4		820,2972,2711	GG,GC,CC		38.8837,28.7789,35.4606		839/1723	240370629	4612,8394	2203	4300	6503	SO:0001819	synonymous_variant	56776	exon5			TCAAACCAGCCAC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2517C>G	1.37:g.240370629C>G		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	124	69	0.556452	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			C|0.679;G|0.321	0.321	strong		0.557	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		G	240370629	C	G	240370629	2	3	22	1	0	0	0	0	0	0	0	1	5950	581	21	4		4	FMN2	1	240370629	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2317403	240370629	8879992	1115	6223										
FMN2	56776	hgsc.bcm.edu	37	chr1	240370935	240370935	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccctctacccggagcgggAatacctcctccgccccctct	7	22	2	0	rs71170718|rs562038978|rs188083977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:240370935A>C	ENST00000319653.9	+	5	3053	c.2823A>C	c.(2821-2823)ggA>ggC	p.G941G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	941	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGCGGGAATACCTCCTC	0.701																																					p.G941G		Atlas-SNP	.											FMN2,NS,carcinoma,+1,3	FMN2	451	3	0			c.A2823C						scavenged	.						24	30	28					1																	240370935		2136	4208	6344	SO:0001819	synonymous_variant	56776	exon5			AGCGGGAATACCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2823A>C	1.37:g.240370935A>C		Somatic	126	30	0.238095		WXS	Illumina HiSeq	Phase_I	199	25	0.125628	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			A|0.982;C|0.018	0.018	strong		0.701	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		C	240370935	A	C	240370935	2	2	22	1	0	0	0	0	0	0	0	1	5950	233	9	5		5	FMN2	1	240370935	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	306	240370935	8879686	1116	6224										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371085	240371085	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcataccccctcctcccccActtcccggagcgggcatacc	8	21	0	0	rs71646826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:240371085A>T	ENST00000319653.9	+	5	3203	c.2973A>T	c.(2971-2973)ccA>ccT	p.P991P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	991	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCCCCACTTCCCGGAG	0.706													T|||	1028	0.205272	0.2678	0.1427	5008	,	,		5948	0.2054		0.1769	False		,,,				2504	0.1943				p.P991P		Atlas-SNP	.											FMN2,NS,carcinoma,+1,1	FMN2	451	1	0			c.A2973T						scavenged	.						10	12	12					1																	240371085		2166	4239	6405	SO:0001819	synonymous_variant	56776	exon5			TCCCCCACTTCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2973A>T	1.37:g.240371085A>T		Somatic	126	4	0.031746		WXS	Illumina HiSeq	Phase_I	210	31	0.147619	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			A|0.836;T|0.164	0.164	strong		0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371085	A	T	240371085	2	4	22	1	0	0	0	0	0	0	0	1	5950	146	6	5		5	FMN2	1	240371085	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150	240371085	8879536	1117	6225										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371328	240371328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccccctctacccggagcGggcataccccctccgccccc	7	25	1	0	rs71646895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:240371328G>A	ENST00000319653.9	+	5	3446	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1072	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.736																																					p.A1072A		Atlas-SNP	.											FMN2,colon,carcinoma,0,2	FMN2	451	2	0			c.G3216A						scavenged	.						2	3	3					1																	240371328		1326	2694	4020	SO:0001819	synonymous_variant	56776	exon5			CGGAGCGGGCATA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3216G>A	1.37:g.240371328G>A		Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	178	50	0.280899	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			G|0.835;A|0.165	0.165	strong		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371328	G	A	240371328	2	1	22	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240371328	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	243	240371328	8879293	1118	6226										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371409	240371409	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcgggcataccccctccGccccctctacccggagtggg	13	18	1	0	rs373533409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:240371409G>T	ENST00000319653.9	+	5	3527	c.3297G>T	c.(3295-3297)ccG>ccT	p.P1099P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTAC	0.731																																					p.P1099P		Atlas-SNP	.											FMN2,NS,neuroblastoma,0,1	FMN2	451	1	0			c.G3297T						scavenged	.						6	8	8					1																	240371409		2016	4072	6088	SO:0001819	synonymous_variant	56776	exon5			CCCTCCGCCCCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3297G>T	1.37:g.240371409G>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	149	7	0.0469799	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.	.	none		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371409	G	T	240371409	2	4	22	1	0	0	0	0	0	0	0	1	5950	1074	38	4		4	FMN2	1	240371409	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81	240371409	8879212	1119	6227										
FH	2271	hgsc.bcm.edu	37	chr1	241663825	241663825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcctggattcccaccacGcagttttctgtaaaggaaac	9	11	1	0	rs2070080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241663825G>A	ENST00000366560.3	-	9	1340	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	434					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTCCCACCACGCAGTTTTCTG	0.438			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				G|||	183	0.0365415	0.1346	0.0072	5008	,	,		15620	0.0		0.0	False		,,,				2504	0.0				p.C434C	Melanoma(148;1573 2486 7381 46575)	Atlas-SNP	.	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	FH,NS,carcinoma,0,1	FH	64	1	0			c.C1302T						PASS	.	G		428,3978	207.2+/-228.6	19,390,1794	135	129	131		1302	-10.7	0.7	1	dbSNP_96	131	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	FH	NM_000143.3		19,395,6089	AA,AG,GG		0.0581,9.714,3.3292		434/511	241663825	433,12573	2203	4300	6503	SO:0001819	synonymous_variant	2271	exon9	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	CACCACGCAGTTT	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1302C>T	1.37:g.241663825G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	142	68	0.478873	NM_000143	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																			G|0.972;A|0.028	0.028	strong		0.438	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		A	241663825	G	A	241663825	2	1	22	1	0	0	0	0	0	0	0	1	5875	1079	38	1		1	FH	1	241663825	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1292416	241663825	7586796	1120	6228										
FH	2271	hgsc.bcm.edu	37	chr1	241676972	241676972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcctggtttacttcagcGgccgctcgcttcaagatgcc	9	13	2	1	rs10926501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241676972G>A	ENST00000366560.3	-	3	347	c.309C>T	c.(307-309)gcC>gcT	p.A103A	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	103					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTACTTCAGCGGCCGCTCGCT	0.353			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				G|||	169	0.033746	0.1241	0.0072	5008	,	,		16468	0.0		0.0	False		,,,				2504	0.0				p.A103A	Melanoma(148;1573 2486 7381 46575)	Atlas-SNP	.	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	FH,NS,carcinoma,0,2	FH	64	2	0			c.C309T						PASS	.	G		386,4020	191.6+/-217.2	18,350,1835	121	123	122		309	0.9	1	1	dbSNP_120	122	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	FH	NM_000143.3		18,353,6132	AA,AG,GG		0.0349,8.7608,2.9909		103/511	241676972	389,12617	2203	4300	6503	SO:0001819	synonymous_variant	2271	exon3	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	TTCAGCGGCCGCT	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.309C>T	1.37:g.241676972G>A		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	273	141	0.516484	NM_000143	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																			G|0.975;A|0.025	0.025	strong		0.353	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		A	241676972	G	A	241676972	2	1	22	1	0	0	0	0	0	0	0	1	5875	1103	39	1		1	FH	1	241676972	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13147	241676972	7573649	1121	6229										
KMO	8564	hgsc.bcm.edu	37	chr1	241712134	241712134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttttaatttctaggttggCtcattacaagcatgctttct	6	7	3	0	rs11556464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241712134C>T	ENST00000366559.4	+	2	371	c.60C>T	c.(58-60)ggC>ggT	p.G20G	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Silent_p.G20G|KMO_ENST00000366558.3_Silent_p.G20G	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			tCTAGGTTGGCTCATTACAAG	0.348													C|||	1869	0.373203	0.528	0.4236	5008	,	,		15923	0.2788		0.3042	False		,,,				2504	0.2965				p.G20G		Atlas-SNP	.											.	KMO	69	.	0			c.C60T						PASS	.	C		2194,2212	583.2+/-385.8	540,1114,549	66	68	68		60	3	1	1	dbSNP_120	68	2833,5767	443.9+/-360.5	465,1903,1932	no	coding-synonymous	KMO	NM_003679.3		1005,3017,2481	TT,TC,CC		32.9419,49.7957,38.6514		20/487	241712134	5027,7979	2203	4300	6503	SO:0001819	synonymous_variant	8564	exon2			GGTTGGCTCATTA	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.60C>T	1.37:g.241712134C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	15	5	0.333333	NM_003679		Silent	SNP	ENST00000366559.4	37	CCDS1618.1																																																																																			C|0.616;T|0.384	0.384	strong		0.348	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		T	241712134	C	T	241712134	2	4	22	1	0	0	0	0	0	0	0	1	8424	784	28	2		2	KMO	1	241712134	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35162	241712134	7538487	1122	6230										
KMO	23596	hgsc.bcm.edu	37	chr1	241755348	241755348	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaccacgatctttcctcCgcttgagaagaccatggaac	8	13	2	2	rs1053230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241755348C>T	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Missense_Mutation_p.R418C|OPN3_ENST00000469376.1_5'Flank|KMO_ENST00000366558.3_Missense_Mutation_p.R439C|KMO_ENST00000366559.4_Missense_Mutation_p.R452C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCTTTCCTCCGCTTGAGAAG	0.448													C|||	582	0.116214	0.0091	0.1282	5008	,	,		19206	0.0526		0.2237	False		,,,				2504	0.2076				p.R452C		Atlas-SNP	.											KMO,NS,adenoma,0,1	KMO	69	1	0			c.C1354T						PASS	.	C	CYS/ARG	192,4214	121.3+/-158.8	2,188,2013	174	148	157		1354	0.3	0	1	dbSNP_86	157	1945,6655	343.5+/-324.9	212,1521,2567	yes	missense	KMO	NM_003679.3	180	214,1709,4580	TT,TC,CC		22.6163,4.3577,16.4309	benign	452/487	241755348	2137,10869	2203	4300	6503	SO:0001628	intergenic_variant	8564	exon15			TTCCTCCGCTTGA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755348C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_003679	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	271|271	0.12408424908424909|0.12408424908424909	5|5	0.01016260162601626|0.01016260162601626	55|55	0.15193370165745856|0.15193370165745856	37|37	0.06468531468531469|0.06468531468531469	174|174	0.22955145118733508|0.22955145118733508	C|C	4.393|4.393	0.072607|0.072607	0.08436|0.08436	0.043577|0.043577	0.226163|0.226163	ENSG00000117009|ENSG00000117009	ENST00000366555|ENST00000366559;ENST00000366558;ENST00000366557	.|T;T;T	.|0.44482	.|0.92;0.92;0.95	5.4|5.4	0.337|0.337	0.15966|0.15966	.|.	.|1.582250	.|0.02739	.|N	.|0.116117	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.12372|0.12372	-1.0550|-1.0550	4|9	.|0.38643	.|T	.|0.18	.|.	7.3222|7.3222	0.26533|0.26533	0.0:0.3956:0.0:0.6044|0.0:0.3956:0.0:0.6044	rs1053230;rs58727153;rs1053230|rs1053230;rs58727153;rs1053230	.|452	.|O15229	.|KMO_HUMAN	L|C	137|452;439;418	.|ENSP00000355517:R452C;ENSP00000355516:R439C;ENSP00000355515:R418C	.|ENSP00000355515:R418C	P|R	+|+	2|1	0|0	KMO|KMO	239821971|239821971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.265000|0.265000	0.18515|0.18515	0.139000|0.139000	0.18822|0.18822	-0.247000|-0.247000	0.11927|0.11927	CCG|CGC	C|0.853;T|0.147	0.147	strong		0.448	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		T	241755348	C	T	241755348	1	4	22	0	1	0	0	0	0	0	0	0	8424	652	23	1		1	KMO	1	241755348	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43214	241755348	7495273	1123	6231										
OPN3	23596	hgsc.bcm.edu	37	chr1	241803317	241803317	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgaggctgatgttgacCaggaggaggtgagtgggagt	19	5	0	4	rs73139034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241803317C>G	ENST00000366554.2	-	1	346	c.240G>C	c.(238-240)ctG>ctC	p.L80L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.L80L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	80					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGATGTTGACCAGGAGGAGGT	0.627													C|||	144	0.028754	0.1036	0.0101	5008	,	,		7429	0.0		0.0	False		,,,				2504	0.0				p.L80L		Atlas-SNP	.											.	OPN3	28	.	0			c.G240C						PASS	.	C		408,3996	196.7+/-221.0	16,376,1810	59	56	57		240	3.9	0.8	1	dbSNP_130	57	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	OPN3	NM_014322.2		16,379,6107	GG,GC,CC		0.0349,9.2643,3.1606		80/403	241803317	411,12593	2202	4300	6502	SO:0001819	synonymous_variant	23596	exon1			GTTGACCAGGAGG	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.240G>C	1.37:g.241803317C>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_014322	Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	CCDS31072.1																																																																																			C|0.969;G|0.031	0.031	strong		0.627	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		G	241803317	C	G	241803317	2	3	22	1	0	0	0	0	0	0	0	1	10881	581	21	4		4	OPN3	1	241803317	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47969	241803317	7447304	1124	6232										
WDR64	128025	hgsc.bcm.edu	37	chr1	241886717	241886717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgaaaaagatcaacatgtCgtcagcctttcctctgcaaa	6	10	3	2	rs10926547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241886717C>T	ENST00000366552.2	+	9	1350	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	WDR64_ENST00000437684.2_Silent_p.V381V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	381										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATCAACATGTCGTCAGCCTTT	0.403													c|||	332	0.0662939	0.2405	0.0159	5008	,	,		19323	0.0		0.003	False		,,,				2504	0.0				p.V381V		Atlas-SNP	.											.	WDR64	234	.	0			c.C1143T						PASS	.	G		976,3430	366.1+/-317.7	123,730,1350	84	79	81		1143	-0.9	0.4	1	dbSNP_120	81	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	WDR64	NM_144625.4		123,737,5643	TT,TC,CC		0.0814,22.1516,7.5581		381/1082	241886717	983,12023	2203	4300	6503	SO:0001819	synonymous_variant	128025	exon9			ACATGTCGTCAGC	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1143C>T	1.37:g.241886717C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	134	56	0.41791	NM_144625	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																				C|0.922;T|0.078	0.078	strong		0.403	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		T	241886717	C	T	241886717	2	4	22	1	0	0	0	0	0	0	0	1	17312	871	31	1		1	WDR64	1	241886717	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83400	241886717	7363904	1125	6233										
WDR64	128025	hgsc.bcm.edu	37	chr1	241929542	241929542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaccatggatttattacGagtgaactgcattgatttac	7	9	0	2	rs12095445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241929542G>A	ENST00000366552.2	+	15	2147	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	WDR64_ENST00000437684.2_Missense_Mutation_p.R647Q	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	647			R -> Q (in dbSNP:rs12095445).							breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GATTTATTACGAGTGAACTGC	0.373													G|||	551	0.110024	0.2194	0.1225	5008	,	,		16781	0.003		0.1541	False		,,,				2504	0.0184				p.R647Q		Atlas-SNP	.											WDR64_ENST00000366552,NS,carcinoma,+1,2	WDR64	234	2	0			c.G1940A						PASS	.	G	GLN/ARG	952,3454	360.1+/-315.1	94,764,1345	131	128	129		1940	0.7	0.2	1	dbSNP_120	129	1408,7192	271.6+/-289.6	121,1166,3013	yes	missense	WDR64	NM_144625.4	43	215,1930,4358	AA,AG,GG		16.3721,21.6069,18.1455	benign	647/1082	241929542	2360,10646	2203	4300	6503	SO:0001583	missense	128025	exon15			TATTACGAGTGAA	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1940G>A	1.37:g.241929542G>A	ENSP00000355510:p.Arg647Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	139	55	0.395683	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		262|262	0.11996336996336997|0.11996336996336997	101|101	0.20528455284552846|0.20528455284552846	51|51	0.1408839779005525|0.1408839779005525	2|2	0.0034965034965034965|0.0034965034965034965	108|108	0.1424802110817942|0.1424802110817942	G|G	7.315|7.315	0.615699|0.615699	0.14129|0.14129	0.216069|0.216069	0.163721|0.163721	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.39787	.|1.06;1.06;1.06	4.47|4.47	0.735|0.735	0.18300|0.18300	.|WD40 repeat-like-containing domain (1);	.|0.943557	.|0.08769	.|N	.|0.896536	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.14661|0.14661	0.345|0.345	0.48452|0.48452	P|P	3.4999999999996145E-4|3.4999999999996145E-4	.|B;B	.|0.23591	.|0.088;0.062	.|B;B	.|0.18871	.|0.023;0.005	T|T	0.31779|0.31779	-0.9931|-0.9931	4|9	.|0.22109	.|T	.|0.4	-0.0022|-0.0022	3.7563|3.7563	0.08586|0.08586	0.5957:0.1885:0.2158:0.0|0.5957:0.1885:0.2158:0.0	rs12095445;rs52808464;rs58881118;rs12095445|rs12095445;rs52808464;rs58881118;rs12095445	.|647;367	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	K|Q	126|647;647;418	.|ENSP00000355510:R647Q;ENSP00000402446:R647Q;ENSP00000406656:R418Q	.|ENSP00000355510:R647Q	E|R	+|+	1|2	0|0	WDR64|WDR64	239996165|239996165	1.000000|1.000000	0.71417|0.71417	0.228000|0.228000	0.23943|0.23943	0.031000|0.031000	0.12232|0.12232	2.437000|2.437000	0.44828|0.44828	-0.072000|-0.072000	0.12864|0.12864	-1.283000|-1.283000	0.01379|0.01379	GAG|CGA	G|0.839;A|0.161	0.161	strong		0.373	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241929542	G	A	241929542	3	1	22	1	0	0	0	0	1	0	0	0	17312	1058	37	1	1998	1	WDR64	1	241929542	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42825	241929542	7321079	1126	6234										
WDR64	128025	hgsc.bcm.edu	37	chr1	241951329	241951329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatcctctgatatttgacCgggaaaagtaagaccattag	8	7	1	3	rs12074374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:241951329C>T	ENST00000366552.2	+	23	3061	c.2854C>T	c.(2854-2856)Cgg>Tgg	p.R952W	WDR64_ENST00000437684.2_Missense_Mutation_p.R785W	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	952			R -> W (in dbSNP:rs12074374).							breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GATATTTGACCGGGAAAAGTA	0.363													C|||	563	0.11242	0.2186	0.1254	5008	,	,		20463	0.005		0.16	False		,,,				2504	0.0215				p.R952W		Atlas-SNP	.											WDR64_ENST00000366552,NS,carcinoma,-1,2	WDR64	234	2	0			c.C2854T						PASS	.	C	TRP/ARG	944,3462	354.6+/-312.7	92,760,1351	53	53	53		2854	2.8	0.9	1	dbSNP_120	53	1450,7150	275.4+/-291.8	134,1182,2984	yes	missense	WDR64	NM_144625.4	101	226,1942,4335	TT,TC,CC		16.8605,21.4253,18.4069	probably-damaging	952/1082	241951329	2394,10612	2203	4300	6503	SO:0001583	missense	128025	exon23			TTTGACCGGGAAA	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2854C>T	1.37:g.241951329C>T	ENSP00000355510:p.Arg952Trp	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	84	51	0.607143	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		275	0.1259157509157509	104	0.21138211382113822	53	0.1464088397790055	2	0.0034965034965034965	116	0.15303430079155672	C	16.98	3.271363	0.59649	0.214253	0.168605	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.42131	1.17;0.98;0.99	5.69	2.8	0.32819	.	0.363501	0.23589	N	0.046575	T	0.00073	0.0002	L	0.60455	1.87	0.45791	P	0.0013250000000000206	D;D	0.89917	0.999;1.0	P;D	0.64687	0.874;0.928	T	0.05007	-1.0912	9	0.87932	D	0	-2.9469	9.3749	0.38277	0.417:0.4484:0.1345:0.0	rs12074374;rs52791125;rs56770384;rs12074374	952;505	B1ANS9;D1MPS4	WDR64_HUMAN;.	W	952;785;556	ENSP00000355510:R952W;ENSP00000402446:R785W;ENSP00000406656:R556W	ENSP00000355510:R952W	R	+	1	2	WDR64	240017952	0.148000	0.22702	0.856000	0.33681	0.989000	0.77384	0.373000	0.20484	0.339000	0.23719	-0.134000	0.14843	CGG	C|0.837;T|0.163	0.163	strong		0.363	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		T	241951329	C	T	241951329	3	4	22	1	0	0	0	0	1	0	0	0	17312	643	23	1	2944	1	WDR64	1	241951329	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21787	241951329	7299292	1127	6235										
CEP170	9859	hgsc.bcm.edu	37	chr1	243328226	243328226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggctgtcttattctcccActggactgaacaaatttacg	9	10	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:243328226A>G	ENST00000366542.1	-	13	3087	c.3036T>C	c.(3034-3036)agT>agC	p.S1012S	CEP170_ENST00000366544.1_Silent_p.S914S|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Silent_p.S914S|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1012	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTATTCTCCCACTGGACTGAA	0.408																																					p.S1012S		Atlas-SNP	.											.	CEP170	153	.	0			c.T3036C						PASS	.						157	139	145					1																	243328226		1909	4120	6029	SO:0001819	synonymous_variant	9859	exon13			TCTCCCACTGGAC	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3036T>C	1.37:g.243328226A>G		Somatic	527	0	0		WXS	Illumina HiSeq	Phase_I	616	236	0.383117	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	1.317	-0.600452	0.03744	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	T	0.64125	0.2570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63567	-0.6608	4	.	.	.	-11.7439	12.8963	0.58101	1.0:0.0:0.0:0.0	.	.	.	.	A	976	.	.	V	-	2	0	CEP170	241394849	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	1.938000	0.40203	1.823000	0.53134	0.454000	0.30748	GTG	.	.	none		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		G	243328226	A	G	243328226	2	3	22	1	0	0	0	0	0	0	0	1	3250	156	6	2		2	CEP170	1	243328226	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1376897	243328226	5922395	1128	6236										
CEP170	9859	hgsc.bcm.edu	37	chr1	243329093	243329093	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttccaggagcagagctGcctaagtgaagtagggtttt	12	7	1	2	rs2789194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:243329093G>C	ENST00000366542.1	-	13	2220	c.2169C>G	c.(2167-2169)ggC>ggG	p.G723G	CEP170_ENST00000366544.1_Silent_p.G625G|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Silent_p.G625G|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	723						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAGCAGAGCTGCCTAAGTGAA	0.398													G|||	192	0.0383387	0.143	0.0043	5008	,	,		20676	0.0		0.0	False		,,,				2504	0.0				p.G723G		Atlas-SNP	.											.	CEP170	153	.	0			c.C2169G						PASS	.	G	,,	483,3189		39,405,1392	163	150	154		1875,1875,2169	1	0	1	dbSNP_100	154	3,8169		0,3,4083	no	coding-synonymous,coding-synonymous,coding-synonymous	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	,,	39,408,5475	CC,CG,GG		0.0367,13.1536,4.1033	,,	625/1487,625/1461,723/1585	243329093	486,11358	1836	4086	5922	SO:0001819	synonymous_variant	9859	exon13			AGAGCTGCCTAAG	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2169C>G	1.37:g.243329093G>C		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	217	108	0.497696	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	CCDS44339.1	64	0.029304029304029304	61	0.12398373983739837	3	0.008287292817679558	0	0.0	0	0.0	G	0.006	-2.025614	0.00414	0.131536	3.67E-4	ENSG00000143702	ENST00000336415	.	.	.	5.25	1.02	0.19986	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15407	-1.0438	4	.	.	.	-3.8866	4.2033	0.10476	0.1806:0.0:0.4641:0.3553	rs2789194;rs2789194	.	.	.	G	687	.	.	A	-	2	0	CEP170	241395716	0.104000	0.21937	0.003000	0.11579	0.284000	0.27059	0.869000	0.27996	-0.080000	0.12685	-0.439000	0.05793	GCA	G|0.978;C|0.022	0.022	strong		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		C	243329093	G	C	243329093	2	2	22	1	0	0	0	0	0	0	0	1	3250	1306	46	4		4	CEP170	1	243329093	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	867	243329093	5921528	1129	6237										
SDCCAG8	10806	hgsc.bcm.edu	37	chr1	243493907	243493907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggagcgacttgaaaaagaActtgcatctcagcaagagaa	11	8	1	3	rs2275155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:243493907A>T	ENST00000366541.3	+	10	1252	c.1134A>T	c.(1132-1134)gaA>gaT	p.E378D	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E233D|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E335D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	378	Sufficient for homodimerization. {ECO:0000250}.		E -> D (in dbSNP:rs2275155).		establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGAAAAAGAACTTGCATCTC	0.448													A|||	1359	0.271366	0.1702	0.2147	5008	,	,		11478	0.1935		0.3231	False		,,,				2504	0.4755				p.E378D		Atlas-SNP	.											SDCCAG8,NS,carcinoma,+2,1	SDCCAG8	73	1	0			c.A1134T						PASS	.	A	ASP/GLU	843,3563	330.4+/-301.5	94,655,1454	81	76	77		1134	0.2	0.7	1	dbSNP_100	77	2645,5955	419.4+/-353.1	395,1855,2050	yes	missense	SDCCAG8	NM_006642.3	45	489,2510,3504	TT,TA,AA		30.7558,19.133,26.8184	benign	378/714	243493907	3488,9518	2203	4300	6503	SO:0001583	missense	10806	exon10			AAAAGAACTTGCA	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1134A>T	1.37:g.243493907A>T	ENSP00000355499:p.Glu378Asp	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	213	102	0.478873	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	507	0.23214285714285715	78	0.15853658536585366	79	0.21823204419889503	103	0.18006993006993008	247	0.3258575197889182	A	17.68	3.450269	0.63290	0.19133	0.307558	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.78	0.25	0.15535	.	0.100084	0.64402	D	0.000002	T	0.00012	0.0000	M	0.71581	2.175	0.34934	P	0.25036899999999995	P;B	0.50819	0.939;0.119	P;B	0.47075	0.536;0.084	T	0.24154	-1.0168	9	0.33141	T	0.24	-6.6197	8.5699	0.33563	0.6552:0.0:0.3448:0.0	rs2275155;rs52836454;rs2275155	335;378	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	D	335;378;233;158	ENSP00000348137:E335D;ENSP00000355499:E378D;ENSP00000341260:E233D;ENSP00000410200:E158D	ENSP00000341260:E233D	E	+	3	2	SDCCAG8	241560530	0.996000	0.38824	0.707000	0.30419	0.873000	0.50193	0.375000	0.20518	-0.190000	0.10465	0.533000	0.62120	GAA	A|0.746;T|0.254	0.254	strong		0.448	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		T	243493907	A	T	243493907	3	4	22	1	0	0	0	0	1	0	0	0	13959	40	2	5	1172	5	SDCCAG8	1	243493907	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	164814	243493907	5756714	1130	6238										
ZNF238	10472	hgsc.bcm.edu	37	chr1	244217662	244217662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggaacatgtggatgcgaTtgccctcagactcagcaggc	13	11	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:244217662T>C	ENST00000358704.4	+	2	735	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	187				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGATGCGATTGCCCTCAGA	0.567																																					p.L196L		Atlas-SNP	.											.	.	.	.	0			c.T586C						PASS	.						51	57	55					1																	244217662		2203	4300	6503	SO:0001819	synonymous_variant	10472	exon2			ATGCGATTGCCCT	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.586T>C	1.37:g.244217662T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	167	91	0.54491	NM_205768	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	CCDS1622.1																																																																																			.	.	none		0.567	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		C	244217662	T	C	244217662	2	2	22	1	0	0	0	0	0	0	0	1	17787	1490	52	2		2	ZNF238	1	244217662	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	723755	244217662	5032959	1131	6239										
KIF26B	55083	hgsc.bcm.edu	37	chr1	245530282	245530282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatccagatggtgctgacGttggagcaggcagccggcag	16	11	0	2	rs61734839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:245530282G>A	ENST00000407071.2	+	3	1052	c.612G>A	c.(610-612)acG>acA	p.T204T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	204					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGTGCTGACGTTGGAGCAGG	0.647													G|||	335	0.066893	0.1914	0.0317	5008	,	,		18212	0.0		0.0179	False		,,,				2504	0.0429				p.T204T		Atlas-SNP	.											.	KIF26B	343	.	0			c.G612A						PASS	.	G		673,3695		52,569,1563	37	41	40		612	0.2	0.9	1	dbSNP_129	40	157,8367		2,153,4107	yes	coding-synonymous	KIF26B	NM_018012.3		54,722,5670	AA,AG,GG		1.8419,15.4075,6.4381		204/2109	245530282	830,12062	2184	4262	6446	SO:0001819	synonymous_variant	55083	exon3			GCTGACGTTGGAG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.612G>A	1.37:g.245530282G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	114	62	0.54386	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																			G|0.953;A|0.047	0.047	strong		0.647	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245530282	G	A	245530282	2	1	22	1	0	0	0	0	0	0	0	1	8295	1132	40	1		1	KIF26B	1	245530282	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1312620	245530282	3720339	1132	6240										
KIF26B	55083	hgsc.bcm.edu	37	chr1	245775265	245775265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtaccggatggagaagagCgggaaagggggaagtaagtc	18	5	0	2	rs61741293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:245775265C>T	ENST00000407071.2	+	9	2525	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	RP11-522M21.2_ENST00000418402.1_RNA|KIF26B_ENST00000366518.4_Silent_p.S314S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	695	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAGAAGAGCGGGAAAGGGG	0.587													C|||	71	0.0141773	0.0514	0.0029	5008	,	,		17393	0.0		0.001	False		,,,				2504	0.0				p.S695S		Atlas-SNP	.											.	KIF26B	343	.	0			c.C2085T						PASS	.	C		149,3979		1,147,1916	55	62	60		2085	0.9	1	1	dbSNP_129	60	4,8378		0,4,4187	no	coding-synonymous	KIF26B	NM_018012.3		1,151,6103	TT,TC,CC		0.0477,3.6095,1.223		695/2109	245775265	153,12357	2064	4191	6255	SO:0001819	synonymous_variant	55083	exon9			GAAGAGCGGGAAA	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2085C>T	1.37:g.245775265C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	111	43	0.387387	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																			C|0.989;T|0.011	0.011	strong		0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245775265	C	T	245775265	2	4	22	1	0	0	0	0	0	0	0	1	8295	767	27	1		1	KIF26B	1	245775265	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	244983	245775265	3475356	1133	6241										
CNST	163882	hgsc.bcm.edu	37	chr1	246755204	246755204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattcctggaaaaagaagtCcaagaagcaaaaaagggact	9	6	0	2	rs116182112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:246755204C>T	ENST00000366513.4	+	2	609	c.340C>T	c.(340-342)Cca>Tca	p.P114S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.P114S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	114					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAAAAGAAGTCCAAGAAGCAA	0.393													C|||	10	0.00199681	0.0076	0.0	5008	,	,		20543	0.0		0.0	False		,,,				2504	0.0				p.P114S		Atlas-SNP	.											.	CNST	73	.	0			c.C340T						PASS	.	C	SER/PRO,SER/PRO	22,4376		0,22,2177	30	31	31		340,340	-12.3	0	1	dbSNP_132	31	1,8591		0,1,4295	yes	missense,missense	CNST	NM_001139459.1,NM_152609.2	74,74	0,23,6472	TT,TC,CC		0.0116,0.5002,0.1771	benign,benign	114/617,114/726	246755204	23,12967	2199	4296	6495	SO:0001583	missense	163882	exon2			AGAAGTCCAAGAA	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.340C>T	1.37:g.246755204C>T	ENSP00000355470:p.Pro114Ser	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	45	22	0.488889	NM_152609	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	0.124	-1.122387	0.01785	0.005002	1.16E-4	ENSG00000162852	ENST00000366513;ENST00000366512;ENST00000366511	T;T;T	0.21734	1.99;1.99;1.99	6.17	-12.3	0.00002	.	1.657020	0.02939	N	0.140268	T	0.08268	0.0206	L	0.39633	1.23	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14559	-1.0468	10	0.25751	T	0.34	-0.1849	3.0934	0.06301	0.2575:0.3466:0.279:0.1169	.	114;114	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	S	114	ENSP00000355470:P114S;ENSP00000355469:P114S;ENSP00000355468:P114S	ENSP00000355468:P114S	P	+	1	0	CNST	244821827	0.031000	0.19500	0.002000	0.10522	0.852000	0.48524	-1.106000	0.03319	-4.388000	0.00052	-1.094000	0.02160	CCA	C|0.998;T|0.002	0.002	strong		0.393	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		T	246755204	C	T	246755204	3	4	22	1	0	0	0	0	1	0	0	0	3634	855	30	2	342	2	CNST	1	246755204	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	979939	246755204	2495417	1134	6242										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247013203	247013203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaccatcgaaagttcctcGtttggcactaaaatggattt	7	9	1	0	rs41308156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247013203G>A	ENST00000391829.2	-	33	6228	c.6105C>T	c.(6103-6105)aaC>aaT	p.N2035N	AHCTF1_ENST00000366508.1_Silent_p.N2070N|AHCTF1_ENST00000326225.3_Silent_p.N2044N|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2035	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAAGTTCCTCGTTTGGCACTA	0.383													G|||	221	0.0441294	0.1641	0.0058	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.0				p.N2044N	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											.	AHCTF1	187	.	0			c.C6132T						PASS	.	G		555,3851	241.8+/-252.1	29,497,1677	59	60	60		6132	0.8	0.9	1	dbSNP_127	60	5,8589	4.3+/-15.6	0,5,4292	no	coding-synonymous	AHCTF1	NM_015446.4		29,502,5969	AA,AG,GG		0.0582,12.5965,4.3077		2044/2276	247013203	560,12440	2203	4297	6500	SO:0001819	synonymous_variant	25909	exon33			TTCCTCGTTTGGC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6105C>T	1.37:g.247013203G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	231	101	0.437229	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																				.	.	weak		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		A	247013203	G	A	247013203	2	1	22	1	0	0	0	0	0	0	0	1	408	1136	40	1		1	AHCTF1	1	247013203	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	257999	247013203	2237418	1135	6243										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247013733	247013733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaaccttaacttctttttTagtagtttcttcaactgctg	5	8	3	1	rs139763225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247013733T>C	ENST00000391829.2	-	33	5698	c.5575A>G	c.(5575-5577)Aaa>Gaa	p.K1859E	AHCTF1_ENST00000326225.3_Missense_Mutation_p.K1868E|AHCTF1_ENST00000366508.1_Missense_Mutation_p.K1894E|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1859	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTCTTTTTTAGTAGTTTCT	0.328													T|||	222	0.0443291	0.1657	0.0043	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.0				p.K1868E	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											.	AHCTF1	187	.	0			c.A5602G						PASS	.	T	GLU/LYS	482,3810		21,440,1685	23	25	24		5602	5.2	0.4	1	dbSNP_134	24	6,8524		0,6,4259	no	missense	AHCTF1	NM_015446.4	56	21,446,5944	CC,CT,TT		0.0703,11.2302,3.806	benign	1868/2276	247013733	488,12334	2146	4265	6411	SO:0001583	missense	25909	exon33			CTTTTTTAGTAGT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5575A>G	1.37:g.247013733T>C	ENSP00000375705:p.Lys1859Glu	Somatic	406	0	0		WXS	Illumina HiSeq	Phase_I	408	167	0.409314	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		75	0.034340659340659344	74	0.15040650406504066	1	0.0027624309392265192	0	0.0	0	0.0	T	0	-2.799134	0.00076	0.112302	7.03E-4	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.29917	1.55;1.55;1.55	5.15	5.15	0.70609	.	2.053990	0.02125	N	0.055937	T	0.00109	0.0003	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17667	0.014;0.016;0.023	B;B;B	0.14023	0.004;0.01;0.007	T	0.37979	-0.9682	10	0.05959	T	0.93	-0.8216	4.3077	0.10955	0.1767:0.097:0.0:0.7263	.	720;1894;1859	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	E	1894;1868;1859	ENSP00000355464:K1894E;ENSP00000355465:K1868E;ENSP00000375705:K1859E	ENSP00000355465:K1868E	K	-	1	0	AHCTF1	245080356	0.010000	0.17322	0.450000	0.26969	0.205000	0.24178	1.124000	0.31320	1.927000	0.55829	0.533000	0.62120	AAA	.	.	weak		0.328	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		C	247013733	T	C	247013733	3	2	22	1	0	0	0	0	1	0	0	0	408	1763	61	2	1241	2	AHCTF1	1	247013733	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	530	247013733	2236888	1136	6244										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247021040	247021040	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcttcagttccttgaacCgggcttaagtgattcaattc	9	9	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247021040C>A	ENST00000391829.2	-	30	4332	c.4209G>T	c.(4207-4209)ccG>ccT	p.P1403P	AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000366508.1_Silent_p.P1438P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTGAACCGGGCTTAAGT	0.343																																					p.P1412P	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											AHCTF1,NS,carcinoma,-1,1	AHCTF1	187	1	0			c.G4236T						scavenged	.						59	60	59					1																	247021040		2203	4300	6503	SO:0001819	synonymous_variant	25909	exon30			TTGAACCGGGCTT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4209G>T	1.37:g.247021040C>A		Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	299	4	0.0133779	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																				.	.	none		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		A	247021040	C	A	247021040	2	1	22	1	0	0	0	0	0	0	0	1	408	639	23	4		4	AHCTF1	1	247021040	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7307	247021040	2229581	1137	6245										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247021085	247021085	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcctctgctgcaactaaGagatcctttgtttctgcatc	7	11	2	1	rs41308162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247021085G>C	ENST00000391829.2	-	30	4287	c.4164C>G	c.(4162-4164)ctC>ctG	p.L1388L	AHCTF1_ENST00000326225.3_Silent_p.L1397L|AHCTF1_ENST00000366508.1_Silent_p.L1423L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1388	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCAACTAAGAGATCCTTTG	0.343													G|||	913	0.182308	0.4728	0.0821	5008	,	,		17161	0.0079		0.0875	False		,,,				2504	0.138				p.L1397L	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											AHCTF1,NS,carcinoma,0,1	AHCTF1	187	1	0			c.C4191G						PASS	.	G		1838,2568	522.5+/-370.8	388,1062,753	61	62	62		4191	2.3	0	1	dbSNP_127	62	738,7862	178.5+/-227.8	32,674,3594	no	coding-synonymous	AHCTF1	NM_015446.4		420,1736,4347	CC,CG,GG		8.5814,41.7158,19.8062		1397/2276	247021085	2576,10430	2203	4300	6503	SO:0001819	synonymous_variant	25909	exon30			AACTAAGAGATCC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4164C>G	1.37:g.247021085G>C		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	258	118	0.457364	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																				G|0.826;C|0.174	0.174	strong		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		C	247021085	G	C	247021085	2	2	22	1	0	0	0	0	0	0	0	1	408	929	33	4		4	AHCTF1	1	247021085	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45	247021085	2229536	1138	6246										
ZNF695	57116	hgsc.bcm.edu	37	chr1	247150631	247150631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaattctcttatgctgaaTaaggtatgagaaccaggtaa	9	5	1	3	rs77178548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247150631T>C	ENST00000339986.7	-	4	1333	c.1186A>G	c.(1186-1188)Att>Gtt	p.I396V	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	396					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATGCTGAATAAGGTATGAG	0.398													T|||	157	0.0313498	0.1165	0.0043	5008	,	,		21162	0.0		0.0	False		,,,				2504	0.0				p.I396V		Atlas-SNP	.											.	ZNF695	55	.	0			c.A1186G						PASS	.	T	,VAL/ILE	387,3903		17,353,1775	51	55	53		,1186	0.6	0	1	dbSNP_132	53	3,8535		0,3,4266	no	intron,missense	ZNF695	NM_001204221.1,NM_020394.4	,29	17,356,6041	CC,CT,TT		0.0351,9.021,3.0402	,benign	,396/516	247150631	390,12438	2145	4269	6414	SO:0001583	missense	57116	exon4			GCTGAATAAGGTA		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1186A>G	1.37:g.247150631T>C	ENSP00000341236:p.Ile396Val	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	54	24	0.444444	NM_020394	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	CCDS44344.1	54	0.024725274725274724	52	0.10569105691056911	2	0.0055248618784530384	0	0.0	0	0.0	T	11.16	1.556933	0.27827	0.09021	3.51E-4	ENSG00000197472	ENST00000339986	T	0.07216	3.21	0.642	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	N	0.02111	-0.68	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.44742	-0.9308	9	0.66056	D	0.02	.	5.509	0.16870	0.0:1.0E-4:0.0:0.9999	.	396	Q8IW36	ZN695_HUMAN	V	396	ENSP00000341236:I396V	ENSP00000341236:I396V	I	-	1	0	ZNF695	245217254	0.000000	0.05858	0.009000	0.14445	0.744000	0.42396	-0.039000	0.12124	0.534000	0.28695	0.172000	0.16884	ATT	T|0.968;C|0.032	0.032	strong		0.398	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		C	247150631	T	C	247150631	3	2	22	1	0	0	0	0	1	0	0	0	18095	1406	49	2	365	2	ZNF695	1	247150631	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	129546	247150631	2099990	1139	6247										
NLRP3	114548	hgsc.bcm.edu	37	chr1	247587408	247587408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattctgagcctgtgcacacCgtggtgttccagggggcggc	15	12	1	1	rs7525979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247587408C>T	ENST00000336119.3	+	3	1409	c.663C>T	c.(661-663)acC>acT	p.T221T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.T221T|NLRP3_ENST00000366497.2_Silent_p.T221T|NLRP3_ENST00000348069.2_Silent_p.T221T|NLRP3_ENST00000366496.2_Silent_p.T221T|NLRP3_ENST00000391828.3_Silent_p.T221T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	221	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTGCACACCGTGGTGTTCC	0.562													C|||	584	0.116613	0.2277	0.0879	5008	,	,		19117	0.131		0.0547	False		,,,				2504	0.0358				p.T221T		Atlas-SNP	.											.	NLRP3	286	.	0			c.C663T						PASS	.	C	,,,,	968,3438	364.4+/-316.9	103,762,1338	77	71	73		663,663,663,663,663	-8.5	0	1	dbSNP_116	73	531,8069	147.3+/-202.7	14,503,3783	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	117,1265,5121	TT,TC,CC		6.1744,21.97,11.5254	,,,,	221/1037,221/980,221/980,221/1037,221/923	247587408	1499,11507	2203	4300	6503	SO:0001819	synonymous_variant	114548	exon3			GCACACCGTGGTG	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.663C>T	1.37:g.247587408C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	231	109	0.471861	NM_183395	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																			C|0.877;T|0.123	0.123	strong		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247587408	C	T	247587408	2	4	22	1	0	0	0	0	0	0	0	1	10478	639	23	1		1	NLRP3	1	247587408	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	436777	247587408	1663213	1140	6248										
OR2W5	441932	hgsc.bcm.edu	37	chr1	247654993	247654993	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgctcttattgccatgtcTtgtgaggaaaccatgctggt	10	10	2	1	rs10925061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247654993T>C	ENST00000522351.1	+	0	624							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGCCATGTCTTGTGAGGAAA	0.562													C|||	1621	0.323682	0.4546	0.2536	5008	,	,		18968	0.2659		0.3231	False		,,,				2504	0.2566				p.S188S		Atlas-SNP	.											.	OR2W5	97	.	0			c.T564C						PASS	.	C		1929,2477	624.9+/-394.4	429,1071,703	141	141	141		564	-0.5	0.5	1	dbSNP_120	141	2608,5992	688.5+/-404.3	394,1820,2086	no	coding-synonymous	OR2W5	NM_001004698.2		823,2891,2789	CC,CT,TT		30.3256,43.7812,34.8839		188/321	247654993	4537,8469	2203	4300	6503			441932	exon1			CATGTCTTGTGAG			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654993T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	127	57	0.448819	NM_001004698	B9EH85	Silent	SNP	ENST00000522351.1	37																																																																																				T|0.645;C|0.355	0.355	strong		0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		C	247654993	T	C	247654993	1	2	22	0	1	0	0	0	0	0	0	0	11034	1596	56	3		3	OR2W5	1	247654993	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67585	247654993	1595628	1141	6249										
OR2W5	441932	hgsc.bcm.edu	37	chr1	247655275	247655275	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttctacaccatcgtcaTtcccagcatcaaccccctca	2	19	5	0	rs12141850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247655275T>C	ENST00000522351.1	+	0	906							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCATCGTCATTCCCAGCATC	0.522													C|||	1620	0.323482	0.4629	0.2406	5008	,	,		16411	0.2619		0.3241	False		,,,				2504	0.2566				p.H282H		Atlas-SNP	.											.	OR2W5	97	.	0			c.T846C						PASS	.	C		1982,2424	618.2+/-393.1	459,1064,680	114	104	107		846	3.1	0.4	1	dbSNP_120	107	2614,5986	688.3+/-404.3	397,1820,2083	no	coding-synonymous	OR2W5	NM_001004698.2		856,2884,2763	CC,CT,TT		30.3953,44.9841,35.3375		282/321	247655275	4596,8410	2203	4300	6503			441932	exon1			TCGTCATTCCCAG			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655275T>C		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	191	85	0.445026	NM_001004698	B9EH85	Silent	SNP	ENST00000522351.1	37																																																																																				T|0.648;C|0.352	0.352	strong		0.522	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		C	247655275	T	C	247655275	1	2	22	0	1	0	0	0	0	0	0	0	11034	1490	52	2		2	OR2W5	1	247655275	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	282	247655275	1595346	1142	6250										
OR2C3	81472	hgsc.bcm.edu	37	chr1	247695427	247695427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacagtgtaatggagtggCctgcagatggcagcgtagcg	16	7	0	2	rs34220133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247695427C>G	ENST00000366487.3	-	2	748	c.387G>C	c.(385-387)agG>agC	p.R129S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	129			R -> S (in dbSNP:rs34220133).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AATGGAGTGGCCTGCAGATGG	0.592													C|||	346	0.0690895	0.0333	0.0504	5008	,	,		21239	0.002		0.1372	False		,,,				2504	0.1299				p.R129S		Atlas-SNP	.											OR2C3,NS,carcinoma,0,1	OR2C3	92	1	0			c.G387C						PASS	.	C	SER/ARG	219,4187	134.5+/-170.7	6,207,1990	66	68	67		387	2	0.9	1	dbSNP_126	67	1411,7189	271.1+/-289.3	117,1177,3006	yes	missense	OR2C3	NM_198074.4	110	123,1384,4996	GG,GC,CC		16.407,4.9705,12.5327	probably-damaging	129/321	247695427	1630,11376	2203	4300	6503	SO:0001583	missense	81472	exon2			GAGTGGCCTGCAG	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.387G>C	1.37:g.247695427C>G	ENSP00000355443:p.Arg129Ser	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	116	46	0.396552	NM_198074	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	143	0.06547619047619048	12	0.024390243902439025	25	0.06906077348066299	2	0.0034965034965034965	104	0.13720316622691292	C	17.27	3.347422	0.61183	0.049705	0.16407	ENSG00000196242	ENST00000366487	T	0.01304	5.03	3.89	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.430133	0.16469	U	0.213067	T	0.00012	0.0000	L	0.46157	1.445	0.42774	P	0.0061550000000000216	B	0.33694	0.421	B	0.28139	0.086	T	0.47394	-0.9121	9	0.87932	D	0	.	7.8991	0.29723	0.0:0.7916:0.0:0.2084	rs34220133	129	Q8N628	OR2C3_HUMAN	S	129	ENSP00000355443:R129S	ENSP00000355443:R129S	R	-	3	2	OR2C3	245762050	0.000000	0.05858	0.853000	0.33588	0.950000	0.60333	-2.208000	0.01229	0.418000	0.25898	0.650000	0.86243	AGG	C|0.891;G|0.109	0.109	strong		0.592	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		G	247695427	C	G	247695427	3	3	22	1	0	0	0	0	1	0	0	0	10993	738	26	4	579	4	OR2C3	1	247695427	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40152	247695427	1555194	1143	6251										
OR2G2	81470	hgsc.bcm.edu	37	chr1	247751936	247751936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaaacctgtgggaacccaTgaaaactatcgcctatggtg	11	9	0	1	rs146039934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247751936T>G	ENST00000320065.1	+	1	275	c.275T>G	c.(274-276)aTg>aGg	p.M92R	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGGAACCCATGAAAACTATC	0.527													t|||	30	0.00599042	0.0219	0.0014	5008	,	,		21752	0.0		0.0	False		,,,				2504	0.0				p.M92R		Atlas-SNP	.											.	OR2G2	88	.	0			c.T275G						PASS	.	C	ARG/MET	98,4308	79.9+/-118.3	1,96,2106	185	152	163		275	-6.5	0	1	dbSNP_134	163	0,8600		0,0,4300	yes	missense	OR2G2	NM_001001915.1	91	1,96,6406	GG,GT,TT		0.0,2.2242,0.7535	benign	92/318	247751936	98,12908	2203	4300	6503	SO:0001583	missense	81470	exon1			AACCCATGAAAAC	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.275T>G	1.37:g.247751936T>G	ENSP00000326349:p.Met92Arg	Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	347	176	0.507205	NM_001001915	Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	t	2.892	-0.229477	0.06022	0.022242	0.0	ENSG00000177489	ENST00000320065	T	0.01347	4.99	4.29	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	2.209360	0.02699	U	0.111542	T	0.00271	0.0008	N	0.00408	-1.53	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.49934	-0.8886	10	0.30078	T	0.28	.	1.2983	0.02074	0.4808:0.1651:0.1223:0.2318	.	92	Q8NGZ5	OR2G2_HUMAN	R	92	ENSP00000326349:M92R	ENSP00000326349:M92R	M	+	2	0	OR2G2	245818559	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.280000	0.08468	-0.902000	0.03886	-0.332000	0.08345	ATG	T|0.994;G|0.006	0.006	strong		0.527	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			G	247751936	T	G	247751936	3	3	22	1	0	0	0	0	1	0	0	0	10998	1464	51	5	277	5	OR2G2	1	247751936	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56509	247751936	1498685	1144	6252										
OR6F1	343169	hgsc.bcm.edu	37	chr1	247875415	247875415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtacacataggagacaaAggtgatgaggcatgaactca	12	6	1	4	rs2282316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247875415A>G	ENST00000302084.2	-	1	690	c.643T>C	c.(643-645)Ttt>Ctt	p.F215L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	215			F -> L (in dbSNP:rs2282316).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F215L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGGAGACAAAGGTGATGAGG	0.552													G|||	1763	0.352037	0.6929	0.2017	5008	,	,		22569	0.2401		0.2058	False		,,,				2504	0.2638				p.F215L		Atlas-SNP	.											OR6F1,NS,carcinoma,0,1	OR6F1	88	1	1	Substitution - Missense(1)	stomach(1)	c.T643C						PASS	.	G	LEU/PHE	2663,1743	519.4+/-370.0	775,1113,315	132	116	122		643	-1.8	0	1	dbSNP_100	122	1976,6624	722.5+/-406.4	219,1538,2543	yes	missense	OR6F1	NM_001005286.1	22	994,2651,2858	GG,GA,AA		22.9767,39.5597,35.6682	benign	215/309	247875415	4639,8367	2203	4300	6503	SO:0001583	missense	343169	exon1			AGACAAAGGTGAT	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.643T>C	1.37:g.247875415A>G	ENSP00000305640:p.Phe215Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	101	55	0.544554	NM_001005286	B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	708	0.3241758241758242	342	0.6951219512195121	88	0.2430939226519337	130	0.22727272727272727	148	0.19525065963060687	G	0.007	-1.995955	0.00435	0.604403	0.229767	ENSG00000169214	ENST00000302084	T	0.00017	9.09	3.72	-1.83	0.07833	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	N	0.004102	T	0.00012	0.0000	N	0.00329	-1.635	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50541	-0.8816	9	0.15066	T	0.55	-10.0518	2.2613	0.04068	0.3244:0.121:0.4315:0.1232	rs2282316;rs56501180;rs60719956;rs2282316	215	Q8NGZ6	OR6F1_HUMAN	L	215	ENSP00000305640:F215L	ENSP00000305640:F215L	F	-	1	0	OR6F1	245942038	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.023000	0.03607	-0.547000	0.06207	-1.054000	0.02325	TTT	A|0.635;G|0.365	0.365	strong		0.552	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		G	247875415	A	G	247875415	3	3	22	1	0	0	0	0	1	0	0	0	11201	72	3	3	287	3	OR6F1	1	247875415	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	123479	247875415	1375206	1145	6253										
OR14A16	284532	hgsc.bcm.edu	37	chr1	247978768	247978768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccaaggaatgaaatggaGttgttgtgtatcaaagaatt	11	4	1	2	rs61740923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:247978768G>A	ENST00000357627.1	-	1	263	c.264C>T	c.(262-264)aaC>aaT	p.N88N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ATGAAATGGAGTTGTTGTGTA	0.448													g|||	78	0.0155751	0.053	0.0029	5008	,	,		19549	0.0		0.003	False		,,,				2504	0.0031				p.N88N	Ovarian(112;180 1586 15073 21914 33526)	Atlas-SNP	.											.	OR14A16	90	.	0			c.C264T						PASS	.	T		187,4219	120.4+/-158.0	7,173,2023	91	91	91		264	-0.9	0	1	dbSNP_129	91	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	OR14A16	NM_001001966.1		7,192,6304	AA,AG,GG		0.2209,4.2442,1.5839		88/310	247978768	206,12800	2203	4300	6503	SO:0001819	synonymous_variant	284532	exon1			AATGGAGTTGTTG	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.264C>T	1.37:g.247978768G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	203	84	0.413793	NM_001001966	Q6IF96	Silent	SNP	ENST00000357627.1	37	CCDS31097.1																																																																																			G|0.986;A|0.014	0.014	strong		0.448	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		A	247978768	G	A	247978768	2	1	22	1	0	0	0	0	0	0	0	1	10945	1020	36	2		2	OR14A16	1	247978768	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	103353	247978768	1271853	1146	6254										
OR2W3	343171	hgsc.bcm.edu	37	chr1	248059779	248059780	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcagaaacagagaggtgINSaagggggcactgggaaggtt					rs80255919|rs112696640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248059779_248059780insA	ENST00000360358.3	+	1	891_892	c.891_892insA	c.(892-894)aagfs	p.K298fs	OR2W3_ENST00000537741.1_Frame_Shift_Ins_p.K298fs	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A300fs*>16(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)			ACAGAGAGGTGAAGGGGGCACT	0.54													AA|AA|AAA|insertion	673	0.134385	0.1339	0.1931	5008	,	,		18884	0.0317		0.1312	False		,,,				2504	0.2025				p.V297fs		Pindel,Atlas-Indel	.											.	OR2W3	113	.	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)	c.891_892insA						PASS	.			569,3697		41,487,1605						4.3	1		dbSNP_132	41	1288,6960		99,1090,2935	no	frameshift	OR2W3	NM_001001957.2		140,1577,4540	A1A1,A1R,RR		15.6159,13.338,14.8394				1857,10657				SO:0001589	frameshift_variant	343171	exon1			.	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.893dupA	1.37:g.248059781_248059781dupA	ENSP00000353516:p.Lys298fs	Somatic	128	.	.		WXS	Illumina HiSeq	Phase_I	128	60	0.469	NM_001001957	Q6IF06|Q8NG86	Frame_Shift_Ins	INS	ENST00000360358.3	37	CCDS31099.1																																																																																			-|0.876;A|0.124	0.124	strong		0.54	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		A	248059780	-	A	248059779	7	5	22	1	0	1	1	0	0	0	0	0	11033	1277	45	0	893	0	OR2W3	1	248059779	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	81011	248059779	1190842	1147	6255										
OR2T8	343172	hgsc.bcm.edu	37	chr1	248084470	248084470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcctgattcactgggacCaccggctccacacgcccatg	8	17	2	1	rs140846339|rs547311711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248084470C>T	ENST00000319968.4	+	1	151	c.151C>T	c.(151-153)Cac>Tac	p.H51Y		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H51D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCACTGGGACCACCGGCTCCA	0.532													C|||	94	0.01877	0.0666	0.0014	5008	,	,		15432	0.002		0.001	False		,,,				2504	0.002				p.H51Y		Atlas-SNP	.											OR2T8,rectum,carcinoma,0,2	OR2T8	67	2	1	Substitution - Missense(1)	large_intestine(1)	c.C151T						scavenged	.						61	60	60					1																	248084470		2201	4297	6498	SO:0001583	missense	343172	exon1			TGGGACCACCGGC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.151C>T	1.37:g.248084470C>T	ENSP00000326225:p.His51Tyr	Somatic	718	2	0.00278552		WXS	Illumina HiSeq	Phase_I	1052	191	0.181559	NM_001005522		Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	c	7.674	0.687584	0.14973	.	.	ENSG00000177462	ENST00000319968	T	0.00428	7.44	3.65	0.32	0.15878	GPCR, rhodopsin-like superfamily (1);	3.036110	0.01499	U	0.017405	T	0.00300	0.0009	L	0.31476	0.935	0.09310	N	1	B	0.09022	0.002	B	0.17098	0.017	T	0.45920	-0.9228	10	0.45353	T	0.12	.	2.7852	0.05372	0.0:0.3992:0.2448:0.3561	.	51	A6NH00	OR2T8_HUMAN	Y	51	ENSP00000326225:H51Y	ENSP00000326225:H51Y	H	+	1	0	OR2T8	246151093	0.118000	0.22208	0.005000	0.12908	0.016000	0.09150	-0.265000	0.08644	0.228000	0.21019	0.603000	0.83216	CAC	.	.	weak		0.532	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		T	248084470	C	T	248084470	3	4	22	1	0	0	0	0	1	0	0	0	11030	594	21	2	153	2	OR2T8	1	248084470	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24691	248084470	1166151	1148	6256										
OR2T8	343172	hgsc.bcm.edu	37	chr1	248085124	248085124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacaggtccactaaccacGacaaggttgtgtcagccttc	8	15	1	0	rs4590708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248085124G>A	ENST00000319968.4	+	1	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACTAACCACGACAAGGTTGT	0.488													G|||	1755	0.350439	0.2769	0.2709	5008	,	,		12953	0.5387		0.1998	False		,,,				2504	0.4673				p.D269N		Atlas-SNP	.											.	OR2T8	67	.	0			c.G805A						PASS	.	G	ASN/ASP	1112,3294	383.0+/-324.7	143,826,1234	111	102	105		805	3.6	0	1	dbSNP_111	105	1898,6698	333.8+/-320.7	204,1490,2604	no	missense	OR2T8	NM_001005522.1	23	347,2316,3838	AA,AG,GG		22.08,25.2383,23.1503	benign	269/313	248085124	3010,9992	2203	4298	6501	SO:0001583	missense	343172	exon1			AACCACGACAAGG		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.805G>A	1.37:g.248085124G>A	ENSP00000326225:p.Asp269Asn	Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	587	240	0.408859	NM_001005522		Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	684	0.3131868131868132	130	0.26422764227642276	95	0.26243093922651933	308	0.5384615384615384	151	0.19920844327176782	G	12.38	1.919763	0.33908	0.252383	0.2208	ENSG00000177462	ENST00000319968	T	0.00216	8.53	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004239	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	P	0.40970	0.734	B	0.43301	0.415	T	0.00000	-1.3415	9	0.66056	D	0.02	.	8.9138	0.35570	0.1066:0.0:0.8934:0.0	rs4590708	269	A6NH00	OR2T8_HUMAN	N	269	ENSP00000326225:D269N	ENSP00000326225:D269N	D	+	1	0	OR2T8	246151747	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	0.194000	0.17135	1.816000	0.52996	0.404000	0.27445	GAC	G|0.755;A|0.245	0.245	strong		0.488	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		A	248085124	G	A	248085124	3	1	22	1	0	0	0	0	1	0	0	0	11030	1058	37	1	807	1	OR2T8	1	248085124	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	654	248085124	1165497	1149	6257										
OR2L8	391190	hgsc.bcm.edu	37	chr1	248112546	248112546	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgctatttgctttcctctCcactatctcatccgcatgag							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248112546C>T	ENST00000357191.3	+	1	387	c.387C>T	c.(385-387)ctC>ctT	p.L129L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			GCTTTCCTCTCCACTATCTCA	0.443																																					p.L129L		Atlas-SNP	.											OR2L8,NS,carcinoma,0,1	OR2L8	92	1	0			c.C387T						scavenged	.						298	260	273					1																	248112546		2203	4300	6503	SO:0001819	synonymous_variant	391190	exon1			TCCTCTCCACTAT	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.387C>T	1.37:g.248112546C>T		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	338	32	0.0946746	NM_001001963	Q6IF03	Silent	SNP	ENST00000357191.3	37	CCDS31101.1																																																																																			.	.	none		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			T	248112546	C	T	248112546	2	4	22	1	0	0	0	0	0	0	0	1	11009	842	30	2		2	OR2L8	1	248112546	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27422	248112546	1138075	1150	6258	129	2								
OR2L8	391190	hgsc.bcm.edu	37	chr1	248112554	248112554	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctttcctctccactatcTcatccgcatgagcaaaagag					rs202165563		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248112554T>C	ENST00000357191.3	+	1	395	c.395T>C	c.(394-396)cTc>cCc	p.L132P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L132P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			CTCCACTATCTCATCCGCATG	0.433																																					p.L132P		Atlas-SNP	.											OR2L8,trunk,malignant_melanoma,0,1	OR2L8	92	1	1	Substitution - Missense(1)	skin(1)	c.T395C						scavenged	.						294	255	269					1																	248112554		2203	4300	6503	SO:0001583	missense	391190	exon1			ACTATCTCATCCG	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.395T>C	1.37:g.248112554T>C	ENSP00000349719:p.Leu132Pro	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	338	41	0.121302	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.779851	0.00079	.	.	ENSG00000196936	ENST00000357191	T	0.00648	5.99	1.64	-3.28	0.05033	GPCR, rhodopsin-like superfamily (1);	0.569254	0.13211	N	0.405136	T	0.00210	0.0006	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	10	0.02654	T	1	.	2.9738	0.05930	0.1117:0.4051:0.1115:0.3717	.	132	Q8NGY9	OR2L8_HUMAN	P	132	ENSP00000349719:L132P	ENSP00000349719:L132P	L	+	2	0	OR2L8	246179177	0.000000	0.05858	0.002000	0.10522	0.242000	0.25591	-4.646000	0.00204	-2.286000	0.00670	-2.951000	0.00084	CTC	.	.	weak		0.433	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			C	248112554	T	C	248112554	3	2	22	1	0	0	0	0	1	0	0	0	11009	1551	54	3	397	3	OR2L8	1	248112554	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8	248112554	1138067	1151	6259	129	2								
OR2L2	26246	hgsc.bcm.edu	37	chr1	248202344	248202344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccctttgcttatacctatGtacgtccaagatccctgcga	6	14	0	1	rs6658141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248202344G>C	ENST00000366479.2	+	1	871	c.775G>C	c.(775-777)Gta>Cta	p.V259L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	259			V -> L (in dbSNP:rs6658141).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTATACCTATGTACGTCCAAG	0.507													N|||	1728	0.345048	0.7799	0.1484	5008	,	,		20898	0.3036		0.1551	False		,,,				2504	0.135				p.V259L		Atlas-SNP	.											.	OR2L2	115	.	0			c.G775C						PASS	.	C	LEU/VAL,	3005,1401		1027,951,225	157	141	146		775,	1.9	0	1	dbSNP_116	146	1249,7351		91,1067,3142	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	32,	1118,2018,3367	CC,CG,GG		14.5233,31.7975,32.708	benign,	259/313,	248202344	4254,8752	2203	4300	6503	SO:0001583	missense	26246	exon1			ACCTATGTACGTC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.775G>C	1.37:g.248202344G>C	ENSP00000355435:p.Val259Leu	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	226	119	0.526549	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	751	0.34386446886446886	381	0.774390243902439	58	0.16022099447513813	201	0.3513986013986014	111	0.14643799472295516	.	0.161	-1.081535	0.01888	0.682025	0.145233	ENSG00000203663	ENST00000366479	T	0.33654	1.4	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26055	N	0.026610	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.32771	-0.9894	8	0.12103	T	0.63	.	3.3465	0.07137	0.0:0.5:0.2296:0.2703	rs6658141;rs6658141	259	Q8NH16	OR2L2_HUMAN	L	259	ENSP00000355435:V259L	ENSP00000355435:V259L	V	+	1	0	OR2L2	246268967	0.000000	0.05858	0.007000	0.13788	0.132000	0.20833	-3.472000	0.00459	0.046000	0.15833	-1.041000	0.02371	GTA	G|0.650;C|0.350	0.350	strong		0.507	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		C	248202344	G	C	248202344	3	2	22	1	0	0	0	0	1	0	0	0	11007	1377	48	4	777	4	OR2L2	1	248202344	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89790	248202344	1048277	1152	6260										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224099	248224099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattttcctaatggctctaaTtggaaacctatccatgattc	5	10	1	1	rs6666048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248224099T>C	ENST00000359959.3	+	1	116	c.116T>C	c.(115-117)aTt>aCt	p.I39T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	39			I -> T (in dbSNP:rs6666048).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGGCTCTAATTGGAAACCTA	0.393													t|||	943	0.188299	0.298	0.098	5008	,	,		20570	0.254		0.1461	False		,,,				2504	0.0798				p.I39T		Atlas-SNP	.											.	OR2L3	97	.	0			c.T116C						PASS	.	T	THR/ILE,	1206,3200		158,890,1155	249	246	247		116,	0.7	0	1	dbSNP_116	247	1186,7408		90,1006,3201	no	missense,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	89,	248,1896,4356	CC,CT,TT		13.8003,27.3718,18.4	benign,	39/313,	248224099	2392,10608	2203	4297	6500	SO:0001583	missense	391192	exon1			CTCTAATTGGAAA	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.116T>C	1.37:g.248224099T>C	ENSP00000353044:p.Ile39Thr	Somatic	466	0	0		WXS	Illumina HiSeq	Phase_I	483	222	0.459627	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	465	0.2129120879120879	147	0.29878048780487804	37	0.10220994475138122	172	0.3006993006993007	109	0.1437994722955145	.	0	-2.828662	0.00070	0.273718	0.138003	ENSG00000198128	ENST00000359959	T	0.00472	7.19	2.05	0.726	0.18248	.	.	.	.	.	T	0.00012	0.0000	N	0.04805	-0.155	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.00341	-1.1804	8	0.12430	T	0.62	.	7.3385	0.26623	0.0:0.0:0.2246:0.7754	rs6666048;rs59835396	39	Q8NG85	OR2L3_HUMAN	T	39	ENSP00000353044:I39T	ENSP00000353044:I39T	I	+	2	0	OR2L3	246290722	0.000000	0.05858	0.006000	0.13384	0.016000	0.09150	0.425000	0.21346	0.023000	0.15187	0.379000	0.24179	ATT	.	.	weak		0.393	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		C	248224099	T	C	248224099	3	2	22	1	0	0	0	0	1	0	0	0	11008	1493	52	2	118	2	OR2L3	1	248224099	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21755	248224099	1026522	1153	6261										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224216	248224216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacatctccaccattgttcCtaagatggcatctgattttc	5	11	2	2	rs6658227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248224216C>T	ENST00000359959.3	+	1	233	c.233C>T	c.(232-234)cCt>cTt	p.P78L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	78			P -> L (in dbSNP:rs6658227).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCATTGTTCCTAAGATGGCA	0.443													c|||	941	0.187899	0.298	0.098	5008	,	,		22692	0.254		0.1441	False		,,,				2504	0.0798				p.P78L		Atlas-SNP	.											.	OR2L3	97	.	0			c.C233T						PASS	.	C	LEU/PRO,	1206,3200		158,890,1155	298	275	283		233,	2	0.9	1	dbSNP_116	283	1187,7413		90,1007,3203	no	missense,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	98,	248,1897,4358	TT,TC,CC		13.8023,27.3718,18.3992	probably-damaging,	78/313,	248224216	2393,10613	2203	4300	6503	SO:0001583	missense	391192	exon1			TTGTTCCTAAGAT	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.233C>T	1.37:g.248224216C>T	ENSP00000353044:p.Pro78Leu	Somatic	392	0	0		WXS	Illumina HiSeq	Phase_I	409	193	0.471883	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	465	0.2129120879120879	148	0.3008130081300813	37	0.10220994475138122	172	0.3006993006993007	108	0.1424802110817942	.	14.47	2.544357	0.45280	0.273718	0.138023	ENSG00000198128	ENST00000359959	T	0.01854	4.6	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31697	U	0.007204	T	0.00012	0.0000	M	0.93854	3.465	0.09310	P	0.99999426361	D	0.54964	0.969	P	0.61070	0.883	T	0.31943	-0.9925	9	0.87932	D	0	.	11.9647	0.53027	0.0:1.0:0.0:0.0	rs6658227;rs59129511;rs6658227	78	Q8NG85	OR2L3_HUMAN	L	78	ENSP00000353044:P78L	ENSP00000353044:P78L	P	+	2	0	OR2L3	246290839	0.991000	0.36638	0.866000	0.34008	0.388000	0.30384	2.852000	0.48310	1.124000	0.41980	0.462000	0.41574	CCT	C|0.801;T|0.199	0.199	strong		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224216	C	T	248224216	3	4	22	1	0	0	0	0	1	0	0	0	11008	681	24	2	235	2	OR2L3	1	248224216	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117	248224216	1026405	1154	6262										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224578	248224578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtctatgagggcacagtgTttttgagcaccaccatcttt	11	9	2	2	rs60743763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248224578T>C	ENST00000359959.3	+	1	595	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCACAGTGTTTTTGAGCAC	0.488													t|||	389	0.0776757	0.1324	0.0288	5008	,	,		24690	0.119		0.0626	False		,,,				2504	0.0112				p.F199L		Atlas-SNP	.											OR2L3,NS,carcinoma,-1,1	OR2L3	97	1	0			c.T595C						scavenged	.						179	198	191					1																	248224578		2189	4300	6489	SO:0001583	missense	391192	exon1			ACAGTGTTTTTGA	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.595T>C	1.37:g.248224578T>C	ENSP00000353044:p.Phe199Leu	Somatic	532	1	0.0018797		WXS	Illumina HiSeq	Phase_I	334	23	0.0688623	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	145	0.06639194139194139	38	0.07723577235772358	9	0.024861878453038673	67	0.11713286713286714	31	0.040897097625329816	T	7.648	0.682293	0.14907	.	.	ENSG00000198128	ENST00000359959	T	0.00042	8.84	2.05	0.915	0.19366	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	U	0.004607	T	0.00012	0.0000	N	0.13043	0.29	0.09310	N	1	P	0.49447	0.924	P	0.56088	0.791	T	0.44667	-0.9313	10	0.51188	T	0.08	.	0.1554	0.00097	0.2252:0.2557:0.23:0.2891	rs60743763	199	Q8NG85	OR2L3_HUMAN	L	199	ENSP00000353044:F199L	ENSP00000353044:F199L	F	+	1	0	OR2L3	246291201	0.000000	0.05858	0.068000	0.19968	0.037000	0.13140	-2.920000	0.00694	0.928000	0.37168	0.379000	0.24179	TTT	T|0.933;C|0.067	0.067	strong		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		C	248224578	T	C	248224578	3	2	22	1	0	0	0	0	1	0	0	0	11008	1725	60	2	597	2	OR2L3	1	248224578	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	362	248224578	1026043	1155	6263										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224754	248224754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgcaccttttgtctacacTtatctacgtccaagatccct	4	13	2	1	rs55893924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248224754T>C	ENST00000359959.3	+	1	771	c.771T>C	c.(769-771)acT>acC	p.T257T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGTCTACACTTATCTACGTC	0.488													N|||	1555	0.310503	0.7398	0.1326	5008	,	,		20515	0.254		0.1481	False		,,,				2504	0.0818				p.T257T		Atlas-SNP	.											.	OR2L3	97	.	0			c.T771C						PASS	.	C	,	2706,1700	500.3+/-364.7	826,1054,323	121	115	117		771,	-4	0	1	dbSNP_129	117	1145,7449	760.4+/-407.6	69,1007,3221	no	coding-synonymous,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	,	895,2061,3544	CC,CT,TT		13.3232,38.5837,29.6231	,	257/313,	248224754	3851,9149	2203	4297	6500	SO:0001819	synonymous_variant	391192	exon1			CTACACTTATCTA	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.771T>C	1.37:g.248224754T>C		Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	266	107	0.402256	NM_001004687	B9EH44	Silent	SNP	ENST00000359959.3	37	CCDS31104.1																																																																																			.	.	weak		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		C	248224754	T	C	248224754	2	2	22	1	0	0	0	0	0	0	0	1	11008	1596	56	3		3	OR2L3	1	248224754	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	176	248224754	1025867	1156	6264										
OR2M3	127062	hgsc.bcm.edu	37	chr1	248366792	248366792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgagccctaaaatttgTggacttatgactgccttttc	7	10	1	2	rs12562957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248366792T>C	ENST00000456743.1	+	1	461	c.423T>C	c.(421-423)tgT>tgC	p.C141C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			CTAAAATTTGTGGACTTATGA	0.453													T|||	1232	0.246006	0.171	0.255	5008	,	,		19737	0.3542		0.1451	False		,,,				2504	0.3333				p.C141C		Atlas-SNP	.											.	OR2M3	116	.	0			c.T423C						PASS	.	T		688,3718	290.4+/-280.9	61,566,1576	208	208	208		423	0	0	1	dbSNP_120	208	1258,7342	251.1+/-277.7	90,1078,3132	no	coding-synonymous	OR2M3	NM_001004689.1		151,1644,4708	CC,CT,TT		14.6279,15.6151,14.9623		141/313	248366792	1946,11060	2203	4300	6503	SO:0001819	synonymous_variant	127062	exon1			AATTTGTGGACTT		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.423T>C	1.37:g.248366792T>C		Somatic	423	0	0		WXS	Illumina HiSeq	Phase_I	416	206	0.495192	NM_001004689	B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	CCDS31107.1																																																																																			T|0.828;C|0.172	0.172	strong		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		C	248366792	T	C	248366792	2	2	22	1	0	0	0	0	0	0	0	1	11011	1702	59	2		2	OR2M3	1	248366792	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	142038	248366792	883829	1157	6265										
OR2T12	127064	hgsc.bcm.edu	37	chr1	248458718	248458718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaggaagtacatgggccTgtggagccggtggtcccagt	17	9	0	0	rs79635253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248458718T>C	ENST00000317996.1	-	1	162	c.163A>G	c.(163-165)Agg>Ggg	p.R55G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|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;0.0201)			TACATGGGCCTGTGGAGCCGG	0.527													-|||	151	0.0301518	0.0915	0.0144	5008	,	,		12875	0.001		0.0169	False		,,,				2504	0.002				p.R55G		Atlas-SNP	.											.	OR2T12	113	.	0			c.A163G						PASS	.	T	GLY/ARG	443,3963	195.7+/-220.2	54,335,1814	81	65	70		163	1.5	0.2	1	dbSNP_131	70	170,8426	69.0+/-131.5	10,150,4138	no	missense	OR2T12	NM_001004692.1	125	64,485,5952	CC,CT,TT		1.9777,10.0545,4.7147	benign	55/321	248458718	613,12389	2203	4298	6501	SO:0001583	missense	127064	exon1			TGGGCCTGTGGAG	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.163A>G	1.37:g.248458718T>C	ENSP00000324583:p.Arg55Gly	Somatic	491	1	0.00203666		WXS	Illumina HiSeq	Phase_I	530	345	0.650943	NM_001004692		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	82	0.037545787545787544	51	0.10365853658536585	8	0.022099447513812154	0	0.0	23	0.030343007915567283	t	9.783	1.175918	0.21704	0.100545	0.019777	ENSG00000177201	ENST00000317996	T	0.00384	7.6	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	U	0.002679	T	0.00012	0.0000	L	0.52011	1.625	0.09310	N	0.999998	B	0.12013	0.005	B	0.14023	0.01	T	0.51371	-0.8714	10	0.87932	D	0	.	4.983	0.14176	0.2683:0.0:0.0:0.7317	.	55	Q8NG77	O2T12_HUMAN	G	55	ENSP00000324583:R55G	ENSP00000324583:R55G	R	-	1	2	OR2T12	246525341	0.001000	0.12720	0.159000	0.22649	0.174000	0.22865	-0.039000	0.12124	0.540000	0.28808	0.147000	0.16070	AGG	T|0.961;C|0.039	0.039	strong		0.527	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458718	T	C	248458718	3	2	22	1	0	0	0	0	1	0	0	0	11019	1579	55	3	802	3	OR2T12	1	248458718	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	91926	248458718	791903	1158	6266										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248524974	248524974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccaaacatccaatggccaAtatcacctggatggccaacc	6	14	1	0	rs57795102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248524974A>G	ENST00000366475.1	+	1	92	c.92A>G	c.(91-93)aAt>aGt	p.N31S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	31			N -> S (in dbSNP:rs57795102).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CCAATGGCCAATATCACCTGG	0.478													a|||	348	0.0694888	0.2337	0.0331	5008	,	,		15454	0.002		0.0109	False		,,,				2504	0.0031				p.N31S		Atlas-SNP	.											OR2T4,NS,adenocarcinoma,-1,1	OR2T4	126	1	0			c.A92G						PASS	.	A	SER/ASN	939,3461		137,665,1398	112	96	102		92	0.2	0.1	1	dbSNP_129	102	98,8342		12,74,4134	yes	missense	OR2T4	NM_001004696.1	46	149,739,5532	GG,GA,AA		1.1611,21.3409,8.0763	benign	31/349	248524974	1037,11803	2200	4220	6420	SO:0001583	missense	127074	exon1			TGGCCAATATCAC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.92A>G	1.37:g.248524974A>G	ENSP00000355431:p.Asn31Ser	Somatic	775	1	0.00129032		WXS	Illumina HiSeq	Phase_I	800	387	0.48375	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	149	0.06822344322344322	130	0.26422764227642276	10	0.027624309392265192	0	0.0	9	0.011873350923482849	A	3.277	-0.147841	0.06627	0.213409	0.011611	ENSG00000196944	ENST00000366475	T	0.36340	1.26	0.189	0.189	0.15119	.	1.272670	0.05590	N	0.574537	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.11235	0.004	B	0.09377	0.004	T	0.34428	-0.9829	8	0.25751	T	0.34	.	.	.	.	rs57795102	31	Q8NH00	OR2T4_HUMAN	S	31	ENSP00000355431:N31S	ENSP00000355431:N31S	N	+	2	0	OR2T4	246591597	0.000000	0.05858	0.062000	0.19696	0.036000	0.12997	-0.514000	0.06298	0.250000	0.21479	0.248000	0.18094	AAT	A|0.925;G|0.075	0.075	strong		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248524974	A	G	248524974	3	3	22	1	0	0	0	0	1	0	0	0	11027	101	4	2	94	2	OR2T4	1	248524974	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66256	248524974	725647	1159	6267			7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525060	248525060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaacatccagcactacttTgtgtggtcatttttgtggtt	8	9	1	0	rs28491677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525060T>A	ENST00000366475.1	+	1	178	c.178T>A	c.(178-180)Tgt>Agt	p.C60S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			AGCACTACTTTGTGTGGTCAT	0.488													t|||	1477	0.294928	0.2421	0.2709	5008	,	,		20455	0.4276		0.1809	False		,,,				2504	0.364				p.C60S		Atlas-SNP	.											OR2T4,NS,carcinoma,-1,1	OR2T4	126	1	0			c.T178A						scavenged	.						176	175	175					1																	248525060		2203	4300	6503	SO:0001583	missense	127074	exon1			CTACTTTGTGTGG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.178T>A	1.37:g.248525060T>A	ENSP00000355431:p.Cys60Ser	Somatic	807	3	0.00371747		WXS	Illumina HiSeq	Phase_I	715	290	0.405594	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	500	0.22893772893772893	101	0.20528455284552846	72	0.19889502762430938	210	0.36713286713286714	117	0.15435356200527706	t	9.676	1.147970	0.21288	.	.	ENSG00000196944	ENST00000366475	T	0.02944	4.1	3.48	2.33	0.28932	.	0.441217	0.19340	N	0.116665	T	0.00012	0.0000	N	0.00746	-1.225	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.41574	-0.9501	9	0.59425	D	0.04	.	8.6683	0.34134	0.1713:0.0:0.0:0.8287	rs28491677;rs58960769	60	Q8NH00	OR2T4_HUMAN	S	60	ENSP00000355431:C60S	ENSP00000355431:C60S	C	+	1	0	OR2T4	246591683	0.044000	0.20184	0.001000	0.08648	0.025000	0.11179	2.832000	0.48152	0.248000	0.21435	-0.510000	0.04470	TGT	T|0.787;A|0.213	0.213	strong		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525060	T	A	248525060	3	1	22	1	0	0	0	0	1	0	0	0	11027	1812	63	5	180	5	OR2T4	1	248525060	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86	248525060	725561	1160	6268			7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525071	248525071	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactactttgtgtggtcatTtttgtggttttcctgatggc	11	7	1	1	rs28499298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525071T>C	ENST00000366475.1	+	1	189	c.189T>C	c.(187-189)atT>atC	p.I63I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			GTGTGGTCATTTTTGTGGTTT	0.483													t|||	1734	0.346246	0.3926	0.2896	5008	,	,		21339	0.4385		0.1948	False		,,,				2504	0.3845				p.I63I		Atlas-SNP	.											OR2T4,NS,carcinoma,0,1	OR2T4	126	1	0			c.T189C						PASS	.						196	194	195					1																	248525071		2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			GGTCATTTTTGTG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.189T>C	1.37:g.248525071T>C		Somatic	778	2	0.00257069		WXS	Illumina HiSeq	Phase_I	695	306	0.440288	NM_001004696	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			T|0.769;C|0.231	0.231	strong		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525071	T	C	248525071	2	2	22	1	0	0	0	0	0	0	0	1	11027	1829	64	2		2	OR2T4	1	248525071	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11	248525071	725550	1161	6269			7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525285	248525285	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtgggatgcagatgttcTtctacgtgacactagcaggt					rs58006779|rs28637620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525285T>C	ENST00000366475.1	+	1	403	c.403T>C	c.(403-405)Ttc>Ctc	p.F135L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			GCAGATGTTCTTCTACGTGAC	0.522													t|||	1679	0.335264	0.3464	0.2824	5008	,	,		20303	0.4514		0.1928	False		,,,				2504	0.3845				p.F135L		Atlas-SNP	.											.	OR2T4	126	.	0			c.T403C						PASS	.						171	168	169					1																	248525285		2203	4299	6502	SO:0001583	missense	127074	exon1			ATGTTCTTCTACG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.403T>C	1.37:g.248525285T>C	ENSP00000355431:p.Phe135Leu	Somatic	964	1	0.00103734		WXS	Illumina HiSeq	Phase_I	914	373	0.408096	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	536	0.2454212454212454	113	0.22967479674796748	84	0.23204419889502761	216	0.3776223776223776	123	0.16226912928759896	T	0.004	-2.337549	0.00224	.	.	ENSG00000196944	ENST00000366475	T	0.02236	4.38	3.48	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.170893	0.28093	N	0.016632	T	0.00012	0.0000	L	0.27944	0.81	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46105	-0.9215	9	0.02654	T	1	.	6.7611	0.23540	0.0:0.6788:0.0:0.3212	rs28637620	135	Q8NH00	OR2T4_HUMAN	L	135	ENSP00000355431:F135L	ENSP00000355431:F135L	F	+	1	0	OR2T4	246591908	0.000000	0.05858	0.055000	0.19348	0.230000	0.25150	-0.558000	0.05978	0.021000	0.15133	-0.390000	0.06520	TTC	T|0.811;C|0.189	0.189	strong		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525285	T	C	248525285	3	2	22	1	0	0	0	0	1	0	0	0	11027	1609	56	3	405	3	OR2T4	1	248525285	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	214	248525285	725336	1162	6270	130	2	7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525290	248525290	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatgcagatgttcttctaCgtgacactagcaggttcaga					rs202028348|rs141576206|rs386642002|rs374193555|rs57728407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525290C>T	ENST00000366475.1	+	1	408	c.408C>T	c.(406-408)taC>taT	p.Y136Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y136*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TGTTCTTCTACGTGACACTAG	0.522													t|||	1549	0.309305	0.2678	0.2752	5008	,	,		19688	0.4405		0.1899	False		,,,				2504	0.3773				p.Y136Y		Atlas-SNP	.											OR2T4,NS,carcinoma,0,1	OR2T4	126	1	1	Substitution - Nonsense(1)	lung(1)	c.C408T						scavenged	.																																			SO:0001819	synonymous_variant	127074	exon1			CTTCTACGTGACA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.408C>T	1.37:g.248525290C>T		Somatic	953	2	0.00209864		WXS	Illumina HiSeq	Phase_I	567	22	0.0388007	NM_001004696	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			C|0.840;T|0.160	0.160	strong		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525290	C	T	248525290	2	4	22	1	0	0	0	0	0	0	0	1	11027	547	19	1		1	OR2T4	1	248525290	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	248525290	725331	1163	6271	130	2	7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525330	248525330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttttccttctagccaccAtggcctatgaccgctacgtg	7	13	1	1	rs376643959|rs56721857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525330A>G	ENST00000366475.1	+	1	448	c.448A>G	c.(448-450)Atg>Gtg	p.M150V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TCTAGCCACCATGGCCTATGA	0.522													a|||	1358	0.271166	0.2284	0.2637	5008	,	,		19950	0.381		0.1779	False		,,,				2504	0.317				p.M150V		Atlas-SNP	.											.	OR2T4	126	.	0			c.A448G						PASS	.						179	174	176					1																	248525330		2203	4300	6503	SO:0001583	missense	127074	exon1			GCCACCATGGCCT	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.448A>G	1.37:g.248525330A>G	ENSP00000355431:p.Met150Val	Somatic	897	3	0.00334448		WXS	Illumina HiSeq	Phase_I	847	308	0.363636	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455416	0.63401	.	.	ENSG00000196944	ENST00000366475	T	0.00995	5.46	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.05502	0.0145	M	0.91972	3.26	0.38959	D	0.958507	D	0.61080	0.989	P	0.58721	0.844	T	0.05209	-1.0899	10	0.87932	D	0	.	11.6861	0.51487	1.0:0.0:0.0:0.0	rs56721857	150	Q8NH00	OR2T4_HUMAN	V	150	ENSP00000355431:M150V	ENSP00000355431:M150V	M	+	1	0	OR2T4	246591953	1.000000	0.71417	0.636000	0.29352	0.769000	0.43574	5.832000	0.69337	1.205000	0.43262	0.397000	0.26171	ATG	A|0.878;G|0.122	0.122	strong		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248525330	A	G	248525330	3	3	22	1	0	0	0	0	1	0	0	0	11027	217	8	2	450	2	OR2T4	1	248525330	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40	248525330	725291	1164	6272			7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525647	248525647	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctatttactcatcctcctCaccatccacgggatgaactc					rs28405645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525647C>A	ENST00000366475.1	+	1	765	c.765C>A	c.(763-765)ctC>ctA	p.L255L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TCATCCTCCTCACCATCCACG	0.517													c|||	1468	0.293131	0.239	0.2709	5008	,	,		22286	0.4256		0.1799	False		,,,				2504	0.362				p.L255L		Atlas-SNP	.											.	OR2T4	126	.	0			c.C765A						PASS	.	C		1061,3345	385.4+/-325.7	140,781,1282	129	127	128		765	0	0.1	1	dbSNP_125	128	1395,7205	269.1+/-288.2	112,1171,3017	no	coding-synonymous	OR2T4	NM_001004696.1		252,1952,4299	AA,AC,CC		16.2209,24.0808,18.8836		255/349	248525647	2456,10550	2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			CCTCCTCACCATC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.765C>A	1.37:g.248525647C>A		Somatic	890	1	0.0011236		WXS	Illumina HiSeq	Phase_I	919	438	0.476605	NM_001004696	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			C|0.790;A|0.210	0.210	strong		0.517	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525647	C	A	248525647	2	1	22	1	0	0	0	0	0	0	0	1	11027	813	29	4		4	OR2T4	1	248525647	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	317	248525647	724974	1165	6273	131	3	7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525650	248525650	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttactcatcctcctcacCatccacgggatgaactcagc					rs28602650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525650C>T	ENST00000366475.1	+	1	768	c.768C>T	c.(766-768)acC>acT	p.T256T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TCCTCCTCACCATCCACGGGA	0.512													t|||	1473	0.294129	0.2398	0.2709	5008	,	,		21451	0.4276		0.1799	False		,,,				2504	0.364				p.T256T		Atlas-SNP	.											.	OR2T4	126	.	0			c.C768T						PASS	.	T		1061,3345	723.4+/-409.4	140,781,1282	130	127	128		768	-0.3	0.2	1	dbSNP_125	128	1394,7206	753.1+/-407.4	112,1170,3018	no	coding-synonymous	OR2T4	NM_001004696.1		252,1951,4300	TT,TC,CC		16.2093,24.0808,18.8759		256/349	248525650	2455,10551	2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			CCTCACCATCCAC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.768C>T	1.37:g.248525650C>T		Somatic	893	2	0.00223964		WXS	Illumina HiSeq	Phase_I	925	450	0.486486	NM_001004696	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			C|0.791;T|0.209	0.209	strong		0.512	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525650	C	T	248525650	2	4	22	1	0	0	0	0	0	0	0	1	11027	581	21	2		2	OR2T4	1	248525650	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	248525650	724971	1166	6274	131	3	7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525657	248525657	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcctcctcaccatccacGggatgaactcagcagagggc					rs28718027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525657G>A	ENST00000366475.1	+	1	775	c.775G>A	c.(775-777)Ggg>Agg	p.G259R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CACCATCCACGGGATGAACTC	0.507													a|||	1476	0.294728	0.2405	0.2709	5008	,	,		21255	0.4296		0.1799	False		,,,				2504	0.364				p.G259R		Atlas-SNP	.											OR2T4,right_upper_lobe,carcinoma,-1,1	OR2T4	126	1	0			c.G775A						scavenged	.	A	ARG/GLY	1056,3350	722.6+/-409.3	140,776,1287	128	126	127		775	0.2	0.8	1	dbSNP_125	127	1386,7214	752.1+/-407.4	111,1164,3025	no	missense	OR2T4	NM_001004696.1	125	251,1940,4312	AA,AG,GG		16.1163,23.9673,18.7759	benign	259/349	248525657	2442,10564	2203	4300	6503	SO:0001583	missense	127074	exon1			ATCCACGGGATGA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.775G>A	1.37:g.248525657G>A	ENSP00000355431:p.Gly259Arg	Somatic	902	2	0.00221729		WXS	Illumina HiSeq	Phase_I	927	457	0.492988	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	539	0.2467948717948718	113	0.22967479674796748	73	0.20165745856353592	221	0.38636363636363635	132	0.1741424802110818	A	0.003	-2.467723	0.00169	0.239673	0.161163	ENSG00000196944	ENST00000366475	T	0.00019	9.06	3.09	0.223	0.15292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	N	0.000181	T	0.00012	0.0000	N	0.00101	-2.135	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.38436	-0.9661	9	0.02654	T	1	.	5.6019	0.17359	0.5788:0.3259:0.0954:0.0	rs28718027	259	Q8NH00	OR2T4_HUMAN	R	259	ENSP00000355431:G259R	ENSP00000355431:G259R	G	+	1	0	OR2T4	246592280	0.000000	0.05858	0.777000	0.31699	0.114000	0.19823	0.443000	0.21644	-0.098000	0.12285	-0.340000	0.08031	GGG	G|0.795;A|0.205	0.205	strong		0.507	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525657	G	A	248525657	3	1	22	1	0	0	0	0	1	0	0	0	11027	1116	39	1	777	1	OR2T4	1	248525657	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7	248525657	724964	1167	6275	131	3	7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525780	248525780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccagctcctaccacaccCctgagaaggacatgatggta	8	15	0	2	rs28698997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248525780C>T	ENST00000366475.1	+	1	898	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CTACCACACCCCTGAGAAGGA	0.507													c|||	1474	0.294329	0.2405	0.2709	5008	,	,		20748	0.4276		0.1799	False		,,,				2504	0.364				p.P300S		Atlas-SNP	.											OR2T4,NS,carcinoma,-1,1	OR2T4	126	1	0			c.C898T						scavenged	.	C	SER/PRO	1063,3343	386.5+/-326.1	140,783,1280	143	142	142		898	0.7	1	1	dbSNP_125	142	1400,7200	271.1+/-289.3	113,1174,3013	no	missense	OR2T4	NM_001004696.1	74	253,1957,4293	TT,TC,CC		16.2791,24.1262,18.9374	benign	300/349	248525780	2463,10543	2203	4300	6503	SO:0001583	missense	127074	exon1			CACACCCCTGAGA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.898C>T	1.37:g.248525780C>T	ENSP00000355431:p.Pro300Ser	Somatic	1097	3	0.00273473		WXS	Illumina HiSeq	Phase_I	1140	587	0.514912	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	605	0.27701465201465203	136	0.2764227642276423	84	0.23204419889502761	238	0.4160839160839161	147	0.19393139841688653	C	10.26	1.299887	0.23650	0.241262	0.162791	ENSG00000196944	ENST00000366475	T	0.00183	8.6	3.0	0.732	0.18283	GPCR, rhodopsin-like superfamily (1);	0.309688	0.23494	N	0.047579	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.31790	0.34	B	0.38683	0.279	T	0.03193	-1.1062	9	0.54805	T	0.06	.	4.7106	0.12870	0.0:0.4376:0.3575:0.2049	rs28698997	300	Q8NH00	OR2T4_HUMAN	S	300	ENSP00000355431:P300S	ENSP00000355431:P300S	P	+	1	0	OR2T4	246592403	0.000000	0.05858	0.953000	0.39169	0.941000	0.58515	-0.266000	0.08631	0.407000	0.25591	0.585000	0.79938	CCT	.	.	weak		0.507	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525780	C	T	248525780	3	4	22	1	0	0	0	0	1	0	0	0	11027	623	22	2	900	2	OR2T4	1	248525780	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123	248525780	724841	1168	6276			7	36	13995422	10	7	807	N	T_G_C_A	6.052693e-07
OR2T6	254879	hgsc.bcm.edu	37	chr1	248550970	248550970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatggggctcttcactcacAataaatgctcaggattcttt	7	10	6	0	rs7417616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248550970A>G	ENST00000355728.2	+	1	61	c.61A>G	c.(61-63)Aat>Gat	p.N21D		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	21			N -> D (in dbSNP:rs7417616).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|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;0.0265)			CTTCACTCACAATAAATGCTC	0.433													g|||	1890	0.377396	0.5234	0.3156	5008	,	,		15093	0.4375		0.1769	False		,,,				2504	0.3681				p.N21D		Atlas-SNP	.											.	OR2T6	101	.	0			c.A61G						PASS	.	G	ASP/ASN	2003,2403	615.1+/-392.5	466,1071,666	148	142	144		61	-6.2	0	1	dbSNP_116	144	1299,7301	758.8+/-407.5	92,1115,3093	yes	missense	OR2T6	NM_001005471.1	23	558,2186,3759	GG,GA,AA		15.1047,45.4607,25.3883	benign	21/309	248550970	3302,9704	2203	4300	6503	SO:0001583	missense	254879	exon1			ACTCACAATAAAT	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.61A>G	1.37:g.248550970A>G	ENSP00000347965:p.Asn21Asp	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	125	72	0.576	NM_001005471	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	744	0.34065934065934067	262	0.532520325203252	96	0.26519337016574585	243	0.42482517482517484	143	0.18865435356200527	G	11.81	1.749870	0.30955	0.454607	0.151047	ENSG00000198104	ENST00000355728	T	0.02974	4.09	4.48	-6.15	0.02105	.	1.525930	0.03801	N	0.264518	T	0.00012	0.0000	N	0.20685	0.6	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41070	-0.9529	9	0.62326	D	0.03	.	4.0254	0.09685	0.4105:0.1039:0.3836:0.102	rs7417616;rs60973717;rs7417616	21	Q8NHC8	OR2T6_HUMAN	D	21	ENSP00000347965:N21D	ENSP00000347965:N21D	N	+	1	0	OR2T6	246617593	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.757000	0.00374	-1.171000	0.02765	-1.555000	0.00892	AAT	A|0.702;G|0.298	0.298	strong		0.433	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		G	248550970	A	G	248550970	3	3	22	1	0	0	0	0	1	0	0	0	11029	130	5	2	63	2	OR2T6	1	248550970	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25190	248550970	699651	1169	6277										
OR2T6	254879	hgsc.bcm.edu	37	chr1	248551203	248551203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctttcatcgcctgcacTgctcagtgctttctctacat	5	14	4	0	rs6700947|rs386642006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248551203T>C	ENST00000355728.2	+	1	294	c.294T>C	c.(292-294)acT>acC	p.T98T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|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;0.0265)			TCGCCTGCACTGCTCAGTGCT	0.532													t|||	1850	0.369409	0.4962	0.3127	5008	,	,		19053	0.4365		0.1769	False		,,,				2504	0.3671				p.T98T		Atlas-SNP	.											.	OR2T6	101	.	0			c.T294C						PASS	.	C		1893,2513	538.7+/-375.1	423,1047,733	122	121	121		294	-7.1	0.1	1	dbSNP_116	121	1297,7303	256.5+/-280.9	92,1113,3095	no	coding-synonymous	OR2T6	NM_001005471.1		515,2160,3828	CC,CT,TT		15.0814,42.9641,24.5271		98/309	248551203	3190,9816	2203	4300	6503	SO:0001819	synonymous_variant	254879	exon1			CTGCACTGCTCAG	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.294T>C	1.37:g.248551203T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_001005471	A6NE36	Silent	SNP	ENST00000355728.2	37	CCDS31114.1																																																																																			T|0.722;C|0.278	0.278	strong		0.532	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		C	248551203	T	C	248551203	2	2	22	1	0	0	0	0	0	0	0	1	11029	1567	55	3		3	OR2T6	1	248551203	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	233	248551203	699418	1170	6278										
OR2T6	254879	hgsc.bcm.edu	37	chr1	248551560	248551560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcggtggtgactgcatcCtacaccaggattctcatcac	8	13	3	1	rs954474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248551560C>T	ENST00000355728.2	+	1	651	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|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;0.0265)			TGACTGCATCCTACACCAGGA	0.522													c|||	1471	0.29373	0.2247	0.2867	5008	,	,		22601	0.4365		0.175	False		,,,				2504	0.3671				p.S217S		Atlas-SNP	.											OR2T6,rectum,carcinoma,+1,2	OR2T6	101	2	0			c.C651T						PASS	.	C		988,3418	369.1+/-318.9	120,748,1335	295	225	249		651	3.2	0.7	1	dbSNP_86	249	1286,7314	255.4+/-280.3	90,1106,3104	no	coding-synonymous	OR2T6	NM_001005471.1		210,1854,4439	TT,TC,CC		14.9535,22.424,17.4842		217/309	248551560	2274,10732	2203	4300	6503	SO:0001819	synonymous_variant	254879	exon1			TGCATCCTACACC	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.651C>T	1.37:g.248551560C>T		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	291	141	0.484536	NM_001005471	A6NE36	Silent	SNP	ENST00000355728.2	37	CCDS31114.1																																																																																			C|0.780;T|0.220	0.220	strong		0.522	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		T	248551560	C	T	248551560	2	4	22	1	0	0	0	0	0	0	0	1	11029	668	24	2		2	OR2T6	1	248551560	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	357	248551560	699061	1171	6279										
OR2T6	254879	hgsc.bcm.edu	37	chr1	248551636	248551636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctttgccacctgctctTcacacatgatggtggtgaca	10	12	2	2	rs954475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248551636T>G	ENST00000355728.2	+	1	727	c.727T>G	c.(727-729)Tca>Gca	p.S243A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	243			S -> A (in dbSNP:rs954475).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|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;0.0265)			CACCTGCTCTTCACACATGAT	0.507													t|||	1851	0.369609	0.4962	0.3127	5008	,	,		22655	0.4365		0.1769	False		,,,				2504	0.3681				p.S243A		Atlas-SNP	.											.	OR2T6	101	.	0			c.T727G						PASS	.	T	ALA/SER	1921,2485	548.5+/-377.6	423,1075,705	259	220	234		727	2.8	0	1	dbSNP_86	234	1297,7303	256.6+/-281.0	92,1113,3095	yes	missense	OR2T6	NM_001005471.1	99	515,2188,3800	GG,GT,TT		15.0814,43.5996,24.7424	probably-damaging	243/309	248551636	3218,9788	2203	4300	6503	SO:0001583	missense	254879	exon1			TGCTCTTCACACA	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.727T>G	1.37:g.248551636T>G	ENSP00000347965:p.Ser243Ala	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	239	123	0.514644	NM_001005471	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	720	0.32967032967032966	241	0.4898373983739837	94	0.2596685082872928	242	0.4230769230769231	143	0.18865435356200527	T	11.11	1.542475	0.27563	0.435996	0.150814	ENSG00000198104	ENST00000355728	T	0.38887	1.11	4.02	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	N	0.002182	T	0.00012	0.0000	M	0.76938	2.355	0.50632	P	1.1300000000002974E-4	D	0.89917	1.0	D	0.97110	1.0	T	0.45381	-0.9265	9	0.87932	D	0	.	6.292	0.21065	0.0:0.089:0.1626:0.7484	rs954475;rs52796985;rs954475	243	Q8NHC8	OR2T6_HUMAN	A	243	ENSP00000347965:S243A	ENSP00000347965:S243A	S	+	1	0	OR2T6	246618259	0.237000	0.23815	0.048000	0.18961	0.377000	0.30045	0.605000	0.24179	0.673000	0.31224	0.523000	0.50628	TCA	T|0.707;G|0.293	0.293	strong		0.507	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		G	248551636	T	G	248551636	3	3	22	1	0	0	0	0	1	0	0	0	11029	1783	62	5	729	5	OR2T6	1	248551636	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	76	248551636	698985	1172	6280										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616401	248616401	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgggctgtgcagttcaGatcttcctctacctgaccct					rs77680148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248616401G>A	ENST00000342927.3	+	1	325	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			GTGCAGTTCAGATCTTCCTCT	0.532																																					p.Q101Q		Atlas-SNP	.											.	OR2T2	73	.	0			c.G303A						PASS	.						303	339	327					1																	248616401		2203	4300	6503	SO:0001819	synonymous_variant	401992	exon1			AGTTCAGATCTTC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.303G>A	1.37:g.248616401G>A		Somatic	1147	0	0		WXS	Illumina HiSeq	Phase_I	1155	256	0.221645	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			G|0.913;A|0.087	0.087	strong		0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		A	248616401	G	A	248616401	2	1	22	1	0	0	0	0	0	0	0	1	11020	933	33	2		2	OR2T2	1	248616401	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64765	248616401	634220	1173	6281	132	2								
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616408	248616408	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtgcagttcagatcttcCtctacctgaccctgattgga					rs67700848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248616408C>T	ENST00000342927.3	+	1	332	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			TCAGATCTTCCTCTACCTGAC	0.532																																					p.L104F		Atlas-SNP	.											OR2T2,NS,carcinoma,-2,1	OR2T2	73	1	0			c.C310T						PASS	.						300	329	320					1																	248616408		2203	4300	6503	SO:0001583	missense	401992	exon1			ATCTTCCTCTACC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.310C>T	1.37:g.248616408C>T	ENSP00000343062:p.Leu104Phe	Somatic	1131	0	0		WXS	Illumina HiSeq	Phase_I	1137	257	0.226033	NM_001004136	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.038068	0.00402	.	.	ENSG00000196240	ENST00000342927	T	0.00495	6.99	3.59	-0.635	0.11512	GPCR, rhodopsin-like superfamily (1);	0.681714	0.12783	N	0.439555	T	0.00210	0.0006	N	0.04768	-0.165	0.80722	P	0.0	B	0.13594	0.008	B	0.14023	0.01	T	0.23904	-1.0175	9	0.02654	T	1	.	8.1475	0.31121	0.0:0.3677:0.0:0.6323	.	104	Q6IF00	OR2T2_HUMAN	F	104	ENSP00000343062:L104F	ENSP00000343062:L104F	L	+	1	0	OR2T2	246683031	0.000000	0.05858	0.036000	0.18154	0.224000	0.24922	-0.885000	0.04161	-0.046000	0.13446	0.298000	0.19748	CTC	C|0.875;T|0.125	0.125	strong		0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616408	C	T	248616408	3	4	22	1	0	0	0	0	1	0	0	0	11020	681	24	2	312	2	OR2T2	1	248616408	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	248616408	634213	1174	6282	132	2								
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616668	248616668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgtgctgaagttgtcttgCacagacacgtcactctatga	10	11	3	3	rs144808604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248616668C>T	ENST00000342927.3	+	1	592	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			AGTTGTCTTGCACAGACACGT	0.502													C|||	13	0.00259585	0.0	0.0072	5008	,	,		23424	0.0		0.007	False		,,,				2504	0.001				p.C190C		Atlas-SNP	.											.	OR2T2	73	.	0			c.C570T						PASS	.	C		5,4341		1,3,2169	11	12	11		570	-0.1	0	1	dbSNP_134	11	102,8330		27,48,4141	no	coding-synonymous	OR2T2	NM_001004136.1		28,51,6310	TT,TC,CC		1.2097,0.115,0.8374		190/325	248616668	107,12671	2173	4216	6389	SO:0001819	synonymous_variant	401992	exon1			GTCTTGCACAGAC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.570C>T	1.37:g.248616668C>T		Somatic	490	0	0		WXS	Illumina HiSeq	Phase_I	544	205	0.376838	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			C|0.997;T|0.003	0.003	strong		0.502	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616668	C	T	248616668	2	4	22	1	0	0	0	0	0	0	0	1	11020	718	25	2		2	OR2T2	1	248616668	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	260	248616668	633953	1175	6283										
OR2T3	343173	hgsc.bcm.edu	37	chr1	248636934	248636934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccaggtcactggagatGataccatttccccgtcaggc	12	12	2	2	rs148766825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248636934G>T	ENST00000359594.2	+	1	308	c.283G>T	c.(283-285)Gat>Tat	p.D95Y		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|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;0.0265)			CACTGGAGATGATACCATTTC	0.552													.|||	287	0.0573083	0.2065	0.0173	5008	,	,		20624	0.0		0.001	False		,,,				2504	0.001				p.D95Y		Atlas-SNP	.											.	OR2T3	79	.	0			c.G283T						PASS	.	T	TYR/ASP	740,3640	744.5+/-411.6	104,532,1554	59	51	54		283	-3.5	0	1	dbSNP_134	54	11,8581	817.4+/-406.9	0,11,4285	no	missense	OR2T3	NM_001005495.1	160	104,543,5839	TT,TG,GG		0.128,16.895,5.7894	benign	95/319	248636934	751,12221	2190	4296	6486	SO:0001583	missense	343173	exon1			GGAGATGATACCA		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.283G>T	1.37:g.248636934G>T	ENSP00000352604:p.Asp95Tyr	Somatic	635	2	0.00314961		WXS	Illumina HiSeq	Phase_I	441	278	0.630385	NM_001005495	B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	CCDS31117.1	101	0.04624542124542125	96	0.1951219512195122	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	t	5.919	0.353667	0.11182	0.16895	0.00128	ENSG00000196539	ENST00000359594	T	0.36340	1.26	2.65	-3.45	0.04781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	9	0.72032	D	0.01	.	1.1933	0.01869	0.4366:0.2119:0.224:0.1274	.	95	Q8NH03	OR2T3_HUMAN	Y	95	ENSP00000352604:D95Y	ENSP00000352604:D95Y	D	+	1	0	OR2T3	246703557	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.501000	0.22578	-2.758000	0.00371	-3.175000	0.00056	GAT	G|1.000;|0.000	.	weak		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		T	248636934	G	T	248636934	3	4	22	1	0	0	0	0	1	0	0	0	11023	1290	45	4	285	4	OR2T3	1	248636934	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20266	248636934	613687	1176	6284										
OR2T5	401993	hgsc.bcm.edu	37	chr1	248652011	248652011	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctttgtggttttcctgaAggcgttgtctggaaatgctg	12	7	2	1	rs150528589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248652011A>T	ENST00000366473.2	+	1	127	c.122A>T	c.(121-123)aAg>aTg	p.K41M		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K41M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|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;0.0265)			GTTTTCCTGAAGGCGTTGTCT	0.478													.|||	1961	0.391573	0.7307	0.2147	5008	,	,		28057	0.3542		0.1889	False		,,,				2504	0.3057				p.K41M		Atlas-SNP	.											OR2T5,NS,other,0,1	OR2T5	17	1	1	Substitution - Missense(1)	pancreas(1)	c.A122T						scavenged	.	T	MET/LYS	2044,2150		554,936,607	81	103	96		122	1.3	0.2	1	dbSNP_134	96	674,7914		4,666,3624	no	missense	OR2T5	NM_001004697.1	95	558,1602,4231	TT,TA,AA		7.8482,48.7363,21.2643	benign	41/316	248652011	2718,10064	2097	4294	6391	SO:0001583	missense	401993	exon1			TCCTGAAGGCGTT	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.122A>T	1.37:g.248652011A>T	ENSP00000355429:p.Lys41Met	Somatic	944	2	0.00211864		WXS	Illumina HiSeq	Phase_I	788	343	0.435279	NM_001004697		Missense_Mutation	SNP	ENST00000366473.2	37	CCDS31118.1	.	.	.	.	.	.	.	.	.	.	t	0.019	-1.457006	0.01071	0.487363	0.078482	ENSG00000203661	ENST00000366473	T	0.00424	7.45	2.64	1.27	0.21489	.	0.130450	0.36409	N	0.002609	T	0.00012	0.0000	N	0.00023	-2.71	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	9	0.02654	T	1	.	7.1342	0.25519	0.3491:0.0:0.0:0.6509	.	41	Q6IEZ7	OR2T5_HUMAN	M	41	ENSP00000355429:K41M	ENSP00000355429:K41M	K	+	2	0	OR2T5	246718634	0.007000	0.16637	0.198000	0.23420	0.062000	0.15995	1.733000	0.38156	0.108000	0.17862	-1.793000	0.00626	AAG	A|0.250;T|0.750	0.750	weak		0.478	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		T	248652011	A	T	248652011	3	4	22	1	0	0	0	0	1	0	0	0	11028	72	3	5	124	5	OR2T5	1	248652011	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15077	248652011	598610	1177	6285										
OR2T34	127068	hgsc.bcm.edu	37	chr1	248737419	248737419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatgaccatgatgggggTgagaagcatgaggatgcagc	18	5	0	5	rs145854970		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248737419T>C	ENST00000328782.2	-	1	661	c.640A>G	c.(640-642)Acc>Gcc	p.T214A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|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;0.0265)			ATGATGGGGGTGAGAAGCATG	0.557																																					p.T214A		Atlas-SNP	.											OR2T34,NS,carcinoma,+1,2	OR2T34	72	2	0			c.A640G						scavenged	.						196	210	206					1																	248737419		2114	4300	6414	SO:0001583	missense	127068	exon1			TGGGGGTGAGAAG	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.640A>G	1.37:g.248737419T>C	ENSP00000330904:p.Thr214Ala	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	206	17	0.0825243	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	8.088	0.773777	0.16051	.	.	ENSG00000183310	ENST00000328782	T	0.36520	1.25	2.37	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15609	0.0376	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	9	0.59425	D	0.04	.	0.341	0.00334	0.2537:0.2468:0.1387:0.3608	.	214	Q8NGX1	O2T34_HUMAN	A	214	ENSP00000330904:T214A	ENSP00000330904:T214A	T	-	1	0	OR2T34	246804042	0.000000	0.05858	0.035000	0.18076	0.091000	0.18340	-0.914000	0.04038	-0.298000	0.08921	-1.680000	0.00737	ACC	.	.	weak		0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		C	248737419	T	C	248737419	3	2	22	1	0	0	0	0	1	0	0	0	11025	1696	59	2	320	2	OR2T34	1	248737419	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85408	248737419	513202	1178	6286										
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813309	248813310	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtgacatccttgttcctINSaaggctgtaaatgagtggat					rs141113411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248813309_248813310insA	ENST00000344889.3	-	1	875_876	c.876_877insT	c.(874-879)cttaggfs	p.R293fs		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTTGTTCCTAAGGCTGTAAA	0.485													AA|AA|AAA|insertion	231	0.0461262	0.1664	0.013	5008	,	,		19512	0.0		0.0	False		,,,				2504	0.002				p.R293_N294delinsX		Atlas-Indel	.											.	OR2T27	52	.	0			c.877_878insT						PASS	.			510,3700		101,308,1696						0.7	0.2		dbSNP_134	74	5,8185		0,5,4090	no	frameshift	OR2T27	NM_001001824.1		101,313,5786	A1A1,A1R,RR		0.0611,12.114,4.1532				515,11885				SO:0001589	frameshift_variant	403239	exon1			.		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.877dupT	1.37:g.248813311_248813311dupA	ENSP00000342008:p.Arg293fs	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	251	39	0.155378	NM_001001824		Frame_Shift_Ins	INS	ENST00000344889.3	37	CCDS31124.1																																																																																			-|0.960;A|0.040	0.040	strong		0.485	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813310	-	A	248813309	7	5	22	1	0	1	1	0	0	0	0	0	11021	1521	53	0	79	0	OR2T27	1	248813309	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	75890	248813309	437312	1179	6287			8	37	287529	4	4	165	N	G_A_-	3.143433e-05
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813352	248813352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatgggagtaaggatggtGtagaaggcagatacagcttt	15	4	0	2	rs147773385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248813352G>A	ENST00000344889.3	-	1	833	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y278*(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGGATGGTGTAGAAGGCAG	0.522													G|||	106	0.0211661	0.0772	0.0058	5008	,	,		16990	0.0		0.0	False		,,,				2504	0.0				p.Y278Y		Atlas-SNP	.											OR2T27,colon,carcinoma,0,1	OR2T27	52	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C834T						scavenged	.	G		158,4196		8,142,2027	78	73	74		834	0.4	1	1	dbSNP_134	74	0,8548		0,0,4274	no	coding-synonymous	OR2T27	NM_001001824.1		8,142,6301	AA,AG,GG		0.0,3.6288,1.2246		278/318	248813352	158,12744	2177	4274	6451	SO:0001819	synonymous_variant	403239	exon1			GATGGTGTAGAAG		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.834C>T	1.37:g.248813352G>A		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	166	26	0.156627	NM_001001824		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																			G|0.986;A|0.014	0.014	strong		0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813352	G	A	248813352	2	1	22	1	0	0	0	0	0	0	0	1	11021	1372	48	2		2	OR2T27	1	248813352	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43	248813352	437269	1180	6288			8	37	287529	4	4	165	N	G_A_-	3.143433e-05
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813421	248813421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcacgtatgtgtacatGgcagccccatagaagaggct	13	10	0	2	rs200410497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248813421G>A	ENST00000344889.3	-	1	764	c.765C>T	c.(763-765)gcC>gcT	p.A255A		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTGTACATGGCAGCCCCAT	0.527													G|||	320	0.0638978	0.2292	0.0231	5008	,	,		17935	0.0		0.001	False		,,,				2504	0.0				p.A255A		Atlas-SNP	.											.	OR2T27	52	.	0			c.C765T						PASS	.	G		669,3711		76,517,1597	39	30	33		765	0.1	0	1	dbSNP_134	33	6,8522		0,6,4258	no	coding-synonymous	OR2T27	NM_001001824.1		76,523,5855	AA,AG,GG		0.0704,15.274,5.2293		255/318	248813421	675,12233	2190	4264	6454	SO:0001819	synonymous_variant	403239	exon1			GTACATGGCAGCC		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.765C>T	1.37:g.248813421G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	154	69	0.448052	NM_001001824		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																			G|0.969;A|0.031	0.031	strong		0.527	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813421	G	A	248813421	2	1	22	1	0	0	0	0	0	0	0	1	11021	1335	47	2		2	OR2T27	1	248813421	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69	248813421	437200	1181	6289			8	37	287529	4	4	165	N	G_A_-	3.143433e-05
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813473	248813473	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgaggagcaggtggccAcagcctttcccctcccctct	11	15	1	1	rs78776291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248813473A>C	ENST00000344889.3	-	1	712	c.713T>G	c.(712-714)gTg>gGg	p.V238G		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGGTGGCCACAGCCTTTCC	0.527													A|||	333	0.0664936	0.2375	0.0245	5008	,	,		19295	0.0		0.002	False		,,,				2504	0.0				p.V238G		Atlas-SNP	.											.	OR2T27	52	.	0			c.T713G						PASS	.	A	GLY/VAL	869,3497		137,595,1451	49	32	38		713	2.3	0.6	1	dbSNP_131	38	8,8502		0,8,4247	no	missense	OR2T27	NM_001001824.1	109	137,603,5698	CC,CA,AA		0.094,19.9038,6.8111	possibly-damaging	238/318	248813473	877,11999	2183	4255	6438	SO:0001583	missense	403239	exon1			GTGGCCACAGCCT		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.713T>G	1.37:g.248813473A>C	ENSP00000342008:p.Val238Gly	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	193	108	0.559586	NM_001001824		Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	119	0.05448717948717949	116	0.23577235772357724	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	.	9.994	1.231495	0.22626	0.199038	9.4E-4	ENSG00000187701	ENST00000344889	T	0.00158	8.65	3.42	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.212577	0.23378	N	0.048838	T	0.00012	0.0000	L	0.33339	1.005	0.34364	P	0.308697	P	0.37038	0.579	B	0.43623	0.425	T	0.27400	-1.0075	9	0.87932	D	0	.	7.831	0.29342	0.8936:0.0:0.1064:0.0	.	238	Q8NH04	O2T27_HUMAN	G	238	ENSP00000342008:V238G	ENSP00000342008:V238G	V	-	2	0	OR2T27	246880096	0.031000	0.19500	0.564000	0.28396	0.057000	0.15508	3.181000	0.50903	0.513000	0.28278	-0.548000	0.04221	GTG	A|0.941;C|0.059	0.059	strong		0.527	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		C	248813473	A	C	248813473	3	2	22	1	0	0	0	0	1	0	0	0	11021	159	6	5	243	5	OR2T27	1	248813473	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52	248813473	437148	1182	6290			8	37	287529	4	4	165	N	G_A_-	3.143433e-05
OR14I1	401994	hgsc.bcm.edu	37	chr1	248844695	248844695	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcagaaaatatatcttcAcaaagagtctccacatggct	6	9	3	2	rs114135727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248844695A>T	ENST00000342623.3	-	1	934	c.911T>A	c.(910-912)gTg>gAg	p.V304E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATATATCTTCACAAAGAGTCT	0.353													A|||	95	0.0189696	0.0703	0.0029	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0				p.V304E		Atlas-SNP	.											.	OR14I1	64	.	0			c.T911A						PASS	.	A	GLU/VAL	283,4123		10,263,1930	51	54	53		911	-2.2	0	1	dbSNP_132	53	0,8600		0,0,4300	yes	missense	OR14I1	NM_001004734.1	121	10,263,6230	TT,TA,AA		0.0,6.4231,2.1759	benign	304/312	248844695	283,12723	2203	4300	6503	SO:0001583	missense	401994	exon1			ATCTTCACAAAGA		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.911T>A	1.37:g.248844695A>T	ENSP00000339726:p.Val304Glu	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	51	24	0.470588	NM_001004734		Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	39	0.017857142857142856	39	0.07926829268292683	0	0.0	0	0.0	0	0.0	.	0.008	-1.879400	0.00537	0.064231	0.0	ENSG00000189181	ENST00000342623	T	0.37235	1.21	2.84	-2.22	0.06952	.	2.383690	0.01770	N	0.031135	T	0.00637	0.0021	N	0.04373	-0.215	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11084	-1.0602	10	0.06236	T	0.91	.	0.9342	0.01341	0.3966:0.2734:0.1869:0.1431	.	304	A6ND48	O14I1_HUMAN	E	304	ENSP00000339726:V304E	ENSP00000339726:V304E	V	-	2	0	OR14I1	246911318	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.457000	0.02374	-0.041000	0.13558	-0.505000	0.04504	GTG	A|0.982;T|0.018	0.018	strong		0.353	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		T	248844695	A	T	248844695	3	4	22	1	0	0	0	0	1	0	0	0	10947	159	6	5	28	5	OR14I1	1	248844695	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31222	248844695	405926	1183	6291										
OR14I1	401994	hgsc.bcm.edu	37	chr1	248844959	248844959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgttgagaagatttggaaaTaggagatcatcatgagaata	11	4	2	4	rs55871516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr1:248844959T>C	ENST00000342623.3	-	1	670	c.647A>G	c.(646-648)tAt>tGt	p.Y216C		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	216			Y -> C (in dbSNP:rs55871516).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y216C(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GATTTGGAAATAGGAGATCAT	0.483													T|||	665	0.132788	0.1649	0.0865	5008	,	,		20268	0.128		0.1173	False		,,,				2504	0.1431				p.Y216C		Atlas-SNP	.											OR14I1,right_lower_lobe,carcinoma,-1,2	OR14I1	64	2	1	Substitution - Missense(1)	stomach(1)	c.A647G						PASS	.	T	CYS/TYR	674,3732		47,580,1576	78	83	82		647	3.5	0	1	dbSNP_129	82	992,7608		58,876,3366	yes	missense	OR14I1	NM_001004734.1	194	105,1456,4942	CC,CT,TT		11.5349,15.2973,12.8095	probably-damaging	216/312	248844959	1666,11340	2203	4300	6503	SO:0001583	missense	401994	exon1			TGGAAATAGGAGA		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.647A>G	1.37:g.248844959T>C	ENSP00000339726:p.Tyr216Cys	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	104	45	0.432692	NM_001004734		Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	291	0.13324175824175824	89	0.18089430894308944	37	0.10220994475138122	73	0.12762237762237763	92	0.12137203166226913	.	20.4	3.983867	0.74474	0.152973	0.115349	ENSG00000189181	ENST00000342623	T	0.00520	6.85	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000794	T	0.00012	0.0000	H	0.99104	4.43	0.31092	P	0.710709	D	0.89917	1.0	D	0.97110	1.0	T	0.01966	-1.1238	9	0.87932	D	0	.	9.9498	0.41631	0.0:0.0:0.0:1.0	rs55871516	216	A6ND48	O14I1_HUMAN	C	216	ENSP00000339726:Y216C	ENSP00000339726:Y216C	Y	-	2	0	OR14I1	246911582	0.989000	0.36119	0.016000	0.15963	0.659000	0.38960	2.521000	0.45563	1.422000	0.47177	0.443000	0.29094	TAT	T|0.871;C|0.129	0.129	strong		0.483	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		C	248844959	T	C	248844959	3	2	22	1	0	0	0	0	1	0	0	0	10947	1406	49	2	292	2	OR14I1	1	248844959	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	264	248844959	405662	1184	6292										
TMEM18	129787	hgsc.bcm.edu	37	chr2	677295	677295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccgcgagttaccgtgagCacggctgggatgctgacggg	19	10	0	2	rs3210390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:677295C>T	ENST00000281017.3	-	1	144	c.51G>A	c.(49-51)gtG>gtA	p.V17V	AC092159.2_ENST00000435573.1_RNA|TMEM18_ENST00000355654.2_5'Flank|TMEM18_ENST00000405941.3_5'Flank|AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	17					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TTACCGTGAGCACGGCTGGGA	0.677													C|||	603	0.120407	0.2458	0.0865	5008	,	,		11272	0.0129		0.1004	False		,,,				2504	0.1063				p.V17V		Atlas-SNP	.											.	TMEM18	22	.	0			c.G51A						PASS	.	C		958,3448		105,748,1350	40	32	35		51	-2.6	0.1	2	dbSNP_105	35	949,7649		53,843,3403	no	coding-synonymous	TMEM18	NM_152834.2		158,1591,4753	TT,TC,CC		11.0375,21.7431,14.6647		17/141	677295	1907,11097	2203	4299	6502	SO:0001819	synonymous_variant	129787	exon1			CGTGAGCACGGCT	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.51G>A	2.37:g.677295C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	39	21	0.538462	NM_152834	D6W4X9|Q8N5H2|Q9NTH3	Silent	SNP	ENST00000281017.3	37	CCDS33141.1																																																																																			C|0.864;T|0.136	0.136	strong		0.677	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		T	677295	C	T	677295	2	4	22	1	0	0	0	0	0	0	0	1	16095	697	25	2		2	TMEM18	2	677295	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10		677295	242522078	1185	6293										
SNTG2	54221	hgsc.bcm.edu	37	chr2	1168781	1168781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttgttttgctgcagggtCcccagggccatccagcgacc	11	15	1	0	rs28505970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:1168781C>A	ENST00000308624.5	+	8	632	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	168			S -> Y (in dbSNP:rs28505970).		central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S168Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTGCAGGGTCCCCAGGGCCA	0.532													C|||	1033	0.20627	0.3608	0.098	5008	,	,		17456	0.1042		0.169	False		,,,				2504	0.2178				p.S168Y		Atlas-SNP	.											SNTG2,NS,carcinoma,0,1	SNTG2	125	1	1	Substitution - Missense(1)	stomach(1)	c.C503A						PASS	.	C	TYR/SER	1210,2802		192,826,988	115	122	120		503	4.6	1	2	dbSNP_125	120	1260,7098		95,1070,3014	yes	missense	SNTG2	NM_018968.3	144	287,1896,4002	AA,AC,CC		15.0754,30.1595,19.9677	probably-damaging	168/540	1168781	2470,9900	2006	4179	6185	SO:0001583	missense	54221	exon8			CAGGGTCCCCAGG	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.503C>A	2.37:g.1168781C>A	ENSP00000311837:p.Ser168Tyr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_018968	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	390	0.17857142857142858	173	0.3516260162601626	35	0.09668508287292818	55	0.09615384615384616	127	0.16754617414248021	C	14.49	2.550271	0.45383	0.301595	0.150754	ENSG00000172554	ENST00000308624	T	0.54866	0.55	4.58	4.58	0.56647	.	0.062085	0.64402	D	0.000003	T	0.00012	0.0000	M	0.72479	2.2	0.09310	P	1.0	D	0.76494	0.999	D	0.83275	0.996	T	0.06023	-1.0850	9	0.66056	D	0.02	.	15.1671	0.72837	0.0:1.0:0.0:0.0	rs28505970	168	Q9NY99	SNTG2_HUMAN	Y	168	ENSP00000311837:S168Y	ENSP00000311837:S168Y	S	+	2	0	SNTG2	1158781	1.000000	0.71417	0.974000	0.42286	0.065000	0.16274	4.969000	0.63735	2.067000	0.61834	0.643000	0.83706	TCC	C|0.822;A|0.178	0.178	strong		0.532	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		A	1168781	C	A	1168781	3	1	22	1	0	0	0	0	1	0	0	0	14875	855	30	4	533	4	SNTG2	2	1168781	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	491486	1168781	242030592	1186	6294										
TPO	7173	hgsc.bcm.edu	37	chr2	1418188	1418188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttaattttagaatgagagCgctcgctgtgctgtctgtca	11	8	2	2	rs151268825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:1418188C>T	ENST00000345913.4	+	2	99	c.8C>T	c.(7-9)gCg>gTg	p.A3V	TPO_ENST00000382201.3_Missense_Mutation_p.A3V|TPO_ENST00000382198.1_Missense_Mutation_p.A3V|TPO_ENST00000329066.4_Missense_Mutation_p.A3V|TPO_ENST00000346956.3_Missense_Mutation_p.A3V|TPO_ENST00000349624.3_Missense_Mutation_p.A3V|TPO_ENST00000382269.3_Missense_Mutation_p.A3V|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A3V|TPO_ENST00000539820.1_Missense_Mutation_p.A3V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	3					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAATGAGAGCGCTCGCTGTG	0.522													C|||	16	0.00319489	0.0106	0.0014	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.001				p.A3V		Atlas-SNP	.											TPO,NS,carcinoma,-1,1	TPO	224	1	0			c.C8T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	16,4390	22.3+/-47.3	0,16,2187	71	69	70		8,8,8,8,8,8	-5.3	0	2	dbSNP_134	70	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	64,64,64,64,64,64	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	benign,benign,benign,benign,benign,benign	3/934,3/934,3/877,3/877,3/890,3/761	1418188	16,12990	2203	4300	6503	SO:0001583	missense	7173	exon2			TGAGAGCGCTCGC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.8C>T	2.37:g.1418188C>T	ENSP00000318820:p.Ala3Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	128	65	0.507812	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.67	1.414818	0.25465	0.003631	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.65732	0.31;-0.17;-0.17;-0.11;0.15;0.31;-0.17;-0.06;0.34;0.15	5.39	-5.3	0.02738	.	1.351910	0.04684	N	0.412836	T	0.41903	0.1179	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.17852	0.003;0.012;0.024;0.014;0.004	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.001;0.002	T	0.32161	-0.9917	10	0.41790	T	0.15	-1.8566	9.1002	0.36664	0.0:0.1854:0.127:0.6876	.	3;3;3;3;3	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	V	3	ENSP00000371704:A3V;ENSP00000337263:A3V;ENSP00000318820:A3V;ENSP00000263886:A3V;ENSP00000332044:A3V;ENSP00000444840:A3V;ENSP00000329869:A3V;ENSP00000371636:A3V;ENSP00000390994:A3V;ENSP00000371633:A3V	ENSP00000329869:A3V	A	+	2	0	TPO	1397195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.480000	0.00983	-0.936000	0.03723	-0.768000	0.03414	GCG	C|0.999;T|0.001	0.001	strong		0.522	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1418188	C	T	1418188	3	4	22	1	0	0	0	0	1	0	0	0	16407	768	27	1	10	1	TPO	2	1418188	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	249407	1418188	241781185	1187	6295										
PXDN	7837	hgsc.bcm.edu	37	chr2	1642700	1642700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagatgcatctgagcgtGtgctgaaggctgaggtgctg	15	9	1	4	rs61747875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:1642700G>A	ENST00000252804.4	-	21	4174	c.4124C>T	c.(4123-4125)aCa>aTa	p.T1375I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1375					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCTGAGCGTGTGCTGAAGGC	0.537													G|||	52	0.0103834	0.0363	0.0043	5008	,	,		20910	0.0		0.001	False		,,,				2504	0.0				p.T1375I		Atlas-SNP	.											.	PXDN	255	.	0			c.C4124T						PASS	.	G	ILE/THR	103,4175		1,101,2037	127	133	131		4124	3	0.1	2	dbSNP_129	131	5,8483		0,5,4239	yes	missense	PXDN	NM_012293.1	89	1,106,6276	AA,AG,GG		0.0589,2.4077,0.846	benign	1375/1480	1642700	108,12658	2139	4244	6383	SO:0001583	missense	7837	exon21			GAGCGTGTGCTGA	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4124C>T	2.37:g.1642700G>A	ENSP00000252804:p.Thr1375Ile	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	131	53	0.40458	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	G	10.13	1.265304	0.23136	0.024077	5.89E-4	ENSG00000130508	ENST00000252804	T	0.61040	0.14	5.43	3.05	0.35203	.	0.558829	0.19914	N	0.103226	T	0.08268	0.0206	N	0.03608	-0.345	0.20074	N	0.999932	B	0.16603	0.018	B	0.15484	0.013	T	0.07693	-1.0759	10	0.41790	T	0.15	-30.0156	7.522	0.27633	0.1358:0.0:0.1542:0.71	.	1375	Q92626	PXDN_HUMAN	I	1375	ENSP00000252804:T1375I	ENSP00000252804:T1375I	T	-	2	0	PXDN	1621707	0.735000	0.28153	0.080000	0.20451	0.000000	0.00434	3.286000	0.51724	0.446000	0.26666	-1.114000	0.02060	ACA	G|0.990;A|0.010	0.010	strong		0.537	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1642700	G	A	1642700	3	1	22	1	0	0	0	0	1	0	0	0	12847	1377	48	2	327	2	PXDN	2	1642700	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224512	1642700	241556673	1188	6296										
PXDN	7837	hgsc.bcm.edu	37	chr2	1642736	1642736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgttgctgagatgttccCcctgtctcccaacactgtgg	10	13	1	1	rs61747868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:1642736C>T	ENST00000252804.4	-	21	4138	c.4088G>A	c.(4087-4089)gGg>gAg	p.G1363E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1363					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGATGTTCCCCCTGTCTCCC	0.527													C|||	49	0.00978435	0.034	0.0043	5008	,	,		20724	0.0		0.001	False		,,,				2504	0.0				p.G1363E		Atlas-SNP	.											.	PXDN	255	.	0			c.G4088A						PASS	.	C	GLU/GLY	96,4162		1,94,2034	103	106	105		4088	3.2	0	2	dbSNP_129	105	5,8489		0,5,4242	yes	missense	PXDN	NM_012293.1	98	1,99,6276	TT,TC,CC		0.0589,2.2546,0.792	benign	1363/1480	1642736	101,12651	2129	4247	6376	SO:0001583	missense	7837	exon21			TGTTCCCCCTGTC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4088G>A	2.37:g.1642736C>T	ENSP00000252804:p.Gly1363Glu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	107	47	0.439252	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	C	0.157	-1.085078	0.01888	0.022546	5.89E-4	ENSG00000130508	ENST00000252804	T	0.58652	0.32	5.07	3.21	0.36854	.	1.792660	0.02747	N	0.116942	T	0.22205	0.0535	L	0.36672	1.1	0.09310	N	1	B	0.16603	0.018	B	0.18263	0.021	T	0.24728	-1.0152	10	0.02654	T	1	-1.7644	7.7153	0.28700	0.0:0.7222:0.0:0.2778	.	1363	Q92626	PXDN_HUMAN	E	1363	ENSP00000252804:G1363E	ENSP00000252804:G1363E	G	-	2	0	PXDN	1621743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.343000	0.19944	0.604000	0.29930	0.563000	0.77884	GGG	C|0.992;T|0.008	0.008	strong		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		T	1642736	C	T	1642736	3	4	22	1	0	0	0	0	1	0	0	0	12847	623	22	2	363	2	PXDN	2	1642736	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	1642736	241556637	1189	6297										
PXDN	7837	hgsc.bcm.edu	37	chr2	1647186	1647186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtctaccctggggatctcGtcacagctgccgtagccgtg	13	13	3	0	rs111450110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:1647186G>A	ENST00000252804.4	-	19	3956	c.3906C>T	c.(3904-3906)gaC>gaT	p.D1302D		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1302					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGGGATCTCGTCACAGCTGC	0.612													G|||	57	0.0113818	0.0393	0.0072	5008	,	,		16011	0.0		0.0	False		,,,				2504	0.0				p.D1302D		Atlas-SNP	.											.	PXDN	255	.	0			c.C3906T						PASS	.	G		167,4063		5,157,1953	65	76	72		3906	-9	0	2	dbSNP_132	72	1,8443		0,1,4221	yes	coding-synonymous	PXDN	NM_012293.1		5,158,6174	AA,AG,GG		0.0118,3.948,1.3255		1302/1480	1647186	168,12506	2115	4222	6337	SO:0001819	synonymous_variant	7837	exon19			GATCTCGTCACAG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3906C>T	2.37:g.1647186G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	31	0.43662	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																			G|0.992;A|0.008	0.008	strong		0.612	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1647186	G	A	1647186	2	1	22	1	0	0	0	0	0	0	0	1	12847	1136	40	1		1	PXDN	2	1647186	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4450	1647186	241552187	1190	6298										
TTC15	51112	hgsc.bcm.edu	37	chr2	3425731	3425731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggctacggcaagagcgGgctgctcaccagccacacga	13	15	1	1	rs35775829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:3425731G>A	ENST00000324266.5	+	4	1439	c.1244G>A	c.(1243-1245)gGg>gAg	p.G415E	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.G415E	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	415					vesicle-mediated transport (GO:0016192)												GGCAAGAGCGGGCTGCTCACC	0.587													G|||	30	0.00599042	0.0227	0.0	5008	,	,		18288	0.0		0.0	False		,,,				2504	0.0				p.G415E		Atlas-SNP	.											.	.	.	.	0			c.G1244A						PASS	.	G	GLU/GLY	107,4299	82.4+/-120.9	0,107,2096	32	31	31		1244	4.7	1	2	dbSNP_126	31	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TTC15	NM_016030.5	98	0,109,6394	AA,AG,GG		0.0233,2.4285,0.8381	probably-damaging	415/736	3425731	109,12897	2203	4300	6503	SO:0001583	missense	51112	exon4			AGAGCGGGCTGCT	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1244G>A	2.37:g.3425731G>A	ENSP00000324318:p.Gly415Glu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	176	87	0.494318	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	10|10	0.004578754578754579|0.004578754578754579	10|10	0.02032520325203252|0.02032520325203252	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	28.0|28.0	4.879029|4.879029	0.91740|0.91740	0.024285|0.024285	2.33E-4|2.33E-4	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266|ENST00000441983	T;T|.	0.53206|.	0.63;0.63|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.61924|0.61924	0.2386|0.2386	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;P|.	0.53312|.	0.959;0.93|.	P;P|.	0.52881|.	0.712;0.712|.	T|T	0.68462|0.68462	-0.5402|-0.5402	10|7	0.44086|0.18710	T|T	0.13|0.47	.|.	16.8604|16.8604	0.86016|0.86016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs35775829|rs35775829	398;415|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	E|S	415;398;415|95	ENSP00000371544:G415E;ENSP00000324318:G415E|.	ENSP00000303612:G398E|ENSP00000409960:G95S	G|G	+|+	2|1	0|0	TTC15|TTC15	3404738|3404738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.184000|7.184000	0.77705|0.77705	2.439000|2.439000	0.82584|0.82584	0.563000|0.563000	0.77884|0.77884	GGG|GGC	G|0.992;A|0.008	0.008	strong		0.587	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		A	3425731	G	A	3425731	3	1	22	1	0	0	0	0	1	0	0	0	16679	1232	43	2	1254	2	TTC15	2	3425731	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1778545	3425731	239773642	1191	6299										
TTC15	51112	hgsc.bcm.edu	37	chr2	3481531	3481531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtaacacagaaattagaTggactacagggtaaaatcat	8	5	1	2	rs11548215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:3481531T>C	ENST00000324266.5	+	10	2037	c.1842T>C	c.(1840-1842)gaT>gaC	p.D614D	TRAPPC12_ENST00000382110.2_Silent_p.D614D	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	614					vesicle-mediated transport (GO:0016192)												AGAAATTAGATGGACTACAGG	0.328													T|||	476	0.0950479	0.1657	0.0692	5008	,	,		18454	0.0496		0.0944	False		,,,				2504	0.0654				p.D614D		Atlas-SNP	.											.	.	.	.	0			c.T1842C						PASS	.	T		730,3676	296.7+/-284.4	65,600,1538	69	73	71		1842	-2.6	1	2	dbSNP_120	71	844,7756	191.4+/-237.6	37,770,3493	no	coding-synonymous	TTC15	NM_016030.5		102,1370,5031	CC,CT,TT		9.814,16.5683,12.1021		614/736	3481531	1574,11432	2203	4300	6503	SO:0001819	synonymous_variant	51112	exon10			ATTAGATGGACTA	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1842T>C	2.37:g.3481531T>C		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	276	115	0.416667	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1	223	0.1021062271062271	93	0.18902439024390244	24	0.06629834254143646	30	0.05244755244755245	76	0.10026385224274406	T	6.540	0.467960	0.12402	0.165683	0.09814	ENSG00000171853	ENST00000452495	.	.	.	5.66	-2.59	0.06209	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.999999999880938	.	.	.	.	.	.	T	0.23154	-1.0196	3	.	.	.	.	11.3558	0.49615	0.0:0.4395:0.0:0.5605	rs11548215;rs17851117	.	.	.	R	16	.	.	W	+	1	0	TTC15	3460538	0.124000	0.22315	0.986000	0.45419	0.633000	0.38033	-0.755000	0.04782	-0.353000	0.08224	-0.280000	0.10049	TGG	T|0.889;C|0.111	0.111	strong		0.328	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		C	3481531	T	C	3481531	2	2	22	1	0	0	0	0	0	0	0	1	16679	1461	51	2		2	TTC15	2	3481531	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	55800	3481531	239717842	1192	6300										
RNASEH1	246243	hgsc.bcm.edu	37	chr2	3597974	3597974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaacttacaaaggatggccTggcccccagtaaacgccgat	9	12	0	0	rs10186193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:3597974T>C	ENST00000315212.3	-	4	853	c.498A>G	c.(496-498)ccA>ccG	p.P166P	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	166	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AAGGATGGCCTGGCCCCCAGT	0.498													C|||	1881	0.375599	0.6233	0.2305	5008	,	,		17040	0.2371		0.3479	False		,,,				2504	0.3149				p.P166P		Atlas-SNP	.											.	RNASEH1	27	.	0			c.A498G						PASS	.	C		2631,1775	521.1+/-370.4	820,991,392	110	124	119		498	-10.9	0.1	2	dbSNP_119	119	3150,5450	652.1+/-400.9	596,1958,1746	yes	coding-synonymous	RNASEH1	NM_002936.3		1416,2949,2138	CC,CT,TT		36.6279,40.286,44.4487		166/287	3597974	5781,7225	2203	4300	6503	SO:0001819	synonymous_variant	246243	exon4			ATGGCCTGGCCCC	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.498A>G	2.37:g.3597974T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_002936	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000315212.3	37	CCDS1647.1																																																																																			T|0.579;C|0.421	0.421	strong		0.498	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			C	3597974	T	C	3597974	2	2	22	1	0	0	0	0	0	0	0	1	13411	1567	55	3		3	RNASEH1	2	3597974	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	116443	3597974	239601399	1193	6301										
COLEC11	78989	hgsc.bcm.edu	37	chr2	3691548	3691548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccttcgtgtactctgaccActcccccatgcggaccttca	7	18	2	1	rs7567833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:3691548A>G	ENST00000349077.4	+	7	759	c.656A>G	c.(655-657)cAc>cGc	p.H219R	COLEC11_ENST00000236693.7_Missense_Mutation_p.H216R|COLEC11_ENST00000402922.1_Missense_Mutation_p.H169R|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Missense_Mutation_p.H169R|COLEC11_ENST00000404205.1_Missense_Mutation_p.H145R|COLEC11_ENST00000418971.2_Missense_Mutation_p.H233R|COLEC11_ENST00000403096.3_Missense_Mutation_p.H193R|COLEC11_ENST00000382062.2_Missense_Mutation_p.H195R	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	219	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		H -> R (in dbSNP:rs7567833). {ECO:0000269|PubMed:14702039}.		developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TACTCTGACCACTCCCCCATG	0.637													G|||	1223	0.244209	0.7436	0.0908	5008	,	,		18858	0.0218		0.0348	False		,,,				2504	0.1227				p.H233R		Atlas-SNP	.											.	COLEC11	93	.	0			c.A698G						PASS	.	G	ARG/HIS,ARG/HIS	2910,1496	476.1+/-357.5	979,952,272	63	75	71		656,647	5.3	1	2	dbSNP_116	71	279,8321	807.0+/-407.2	5,269,4026	yes	missense,missense	COLEC11	NM_024027.3,NM_199235.1	29,29	984,1221,4298	GG,GA,AA		3.2442,33.9537,24.5195	benign,benign	219/272,216/269	3691548	3189,9817	2203	4300	6503	SO:0001583	missense	78989	exon8			CTGACCACTCCCC	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.656A>G	2.37:g.3691548A>G	ENSP00000339168:p.His219Arg	Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_001255985	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	CCDS1649.1	419	0.19184981684981686	364	0.7398373983739838	31	0.0856353591160221	6	0.01048951048951049	18	0.023746701846965697	G	5.512	0.279351	0.10458	0.660463	0.032442	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.3	5.3	0.74995	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.273464	0.41396	N	0.000893	T	0.00012	0.0000	N	0.00621	-1.32	0.58432	P	5.000000000032756E-6	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.0;0.001;0.0;0.001;0.001;0.002	T	0.13872	-1.0493	9	0.41790	T	0.15	-15.7946	13.2666	0.60137	0.0767:0.0:0.9233:0.0	rs7567833;rs60526563;rs7567833	145;169;169;193;171;195;195;219;216	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	R	195;216;219;233;193;169;145;169	ENSP00000371494:H195R;ENSP00000236693:H216R;ENSP00000339168:H219R;ENSP00000411770:H233R;ENSP00000385130:H193R;ENSP00000384882:H169R;ENSP00000385827:H145R;ENSP00000385653:H169R	ENSP00000236693:H216R	H	+	2	0	COLEC11	3669423	1.000000	0.71417	0.992000	0.48379	0.002000	0.02628	4.613000	0.61176	1.240000	0.43803	-0.349000	0.07799	CAC	A|0.765;G|0.235	0.235	strong		0.637	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		G	3691548	A	G	3691548	3	3	22	1	0	0	0	0	1	0	0	0	3711	159	6	2	761	2	COLEC11	2	3691548	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93574	3691548	239507825	1194	6302										
ALLC	55821	hgsc.bcm.edu	37	chr2	3729254	3729254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaatcccagaaagaggaaCcaggacaggagctgcagcca	12	10	0	3	rs13426642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:3729254C>T	ENST00000252505.3	+	6	491	c.329C>T	c.(328-330)aCc>aTc	p.T110I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	129					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GAAAGAGGAACCAGGACAGGA	0.443										HNSCC(21;0.051)			T|||	958	0.191294	0.3487	0.1326	5008	,	,		18597	0.13		0.174	False		,,,				2504	0.1012				p.T110I		Atlas-SNP	.											.	ALLC	61	.	0			c.C329T						PASS	.	T	ILE/THR	1109,2681		150,809,936	53	56	55		329	-1.7	0	2	dbSNP_121	55	1577,6649		159,1259,2695	yes	missense	ALLC	NM_018436.3	89	309,2068,3631	TT,TC,CC		19.1709,29.2612,22.3535	benign	110/392	3729254	2686,9330	1895	4113	6008	SO:0001583	missense	55821	exon6			GAGGAACCAGGAC	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.329C>T	2.37:g.3729254C>T	ENSP00000252505:p.Thr110Ile	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	81	38	0.469136	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	428	0.19597069597069597	175	0.3556910569105691	53	0.1464088397790055	69	0.12062937062937062	131	0.17282321899736147	T	2.425	-0.332270	0.05314	0.292612	0.191709	ENSG00000151360	ENST00000252505	.	.	.	4.98	-1.69	0.08186	Allantoicase domain (1);Galactose-binding domain-like (1);	1.431930	0.04091	N	0.311285	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.40403	-0.9565	8	0.36615	T	0.2	-6.0446	1.6428	0.02756	0.148:0.3466:0.153:0.3524	rs13426642;rs17856846;rs59065366;rs13426642	129	Q8N6M5	ALLC_HUMAN	I	110	.	ENSP00000252505:T110I	T	+	2	0	ALLC	3707129	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.729000	0.04920	-0.411000	0.07530	-0.269000	0.10298	ACC	C|0.801;T|0.199	0.199	strong		0.443	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			T	3729254	C	T	3729254	3	4	22	1	0	0	0	0	1	0	0	0	534	507	18	2	347	2	ALLC	2	3729254	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37706	3729254	239470119	1195	6303										
CMPK2	129607	hgsc.bcm.edu	37	chr2	7003680	7003680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcgaccaggtcaagcacTgcccgggcttcaggaataaa	12	11	2	0	rs77719173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:7003680T>C	ENST00000256722.5	-	2	704	c.705A>G	c.(703-705)gcA>gcG	p.A235A	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.A235A|CMPK2_ENST00000458098.1_Silent_p.A235A	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	235					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTCAAGCACTGCCCGGGCTT	0.478													C|||	349	0.0696885	0.2549	0.0159	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.001				p.A235A		Atlas-SNP	.											.	CMPK2	30	.	0			c.A705G						PASS	.	C		758,3044		81,596,1224	98	98	98		705	-10.4	0.1	2	dbSNP_131	98	9,8199		0,9,4095	no	coding-synonymous	CMPK2	NM_207315.2		81,605,5319	CC,CT,TT		0.1096,19.9369,6.3863		235/450	7003680	767,11243	1901	4104	6005	SO:0001819	synonymous_variant	129607	exon2			AAGCACTGCCCGG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.705A>G	2.37:g.7003680T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	141	52	0.368794	NM_001256478	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			T|0.968;C|0.032	0.032	strong		0.478	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		C	7003680	T	C	7003680	2	2	22	1	0	0	0	0	0	0	0	1	3581	1567	55	3		3	CMPK2	2	7003680	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3274426	7003680	236195693	1196	6304										
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005236	7005236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaccgggtgcagcggggGctccgggacgggcacgacct	17	15	0	0	rs575313172		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:7005236G>T	ENST00000256722.5	-	1	591	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000404168.1_Missense_Mutation_p.P198T|CMPK2_ENST00000458098.1_Missense_Mutation_p.P198T	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	198					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCAGCGGGGGCTCCGGGACG	0.721													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11581	0.0		0.0	False		,,,				2504	0.0				p.P198T		Atlas-SNP	.											.	CMPK2	30	.	0			c.C592A						PASS	.						3	5	4					2																	7005236		1735	3836	5571	SO:0001583	missense	129607	exon1			GCGGGGGCTCCGG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.592C>A	2.37:g.7005236G>T	ENSP00000256722:p.Pro198Thr	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	12	6	0.5	NM_001256478	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547309	0.65311	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	T	0.57436	0.4	4.43	3.55	0.40652	.	0.061334	0.64402	D	0.000003	T	0.55065	0.1897	L	0.29908	0.895	0.38526	D	0.948847	D;D	0.67145	0.996;0.994	P;P	0.62014	0.897;0.663	T	0.60311	-0.7288	10	0.66056	D	0.02	-21.992	10.2012	0.43084	0.0989:0.0:0.9011:0.0	.	198;198	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	T	198	ENSP00000256722:P198T	ENSP00000256722:P198T	P	-	1	0	CMPK2	6922687	1.000000	0.71417	0.566000	0.28421	0.894000	0.52154	2.696000	0.47052	1.069000	0.40788	0.563000	0.77884	CCC	.	.	none		0.721	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		T	7005236	G	T	7005236	3	4	22	1	0	0	0	0	1	0	0	0	3581	1203	42	4	777	4	CMPK2	2	7005236	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1556	7005236	236194137	1197	6305										
MBOAT2	129642	hgsc.bcm.edu	37	chr2	8998971	8998971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtattctttcttctttgagtTtttttcactggcaacaacaa	5	8	4	1	rs35943010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:8998971T>C	ENST00000305997.3	-	13	1599	c.1401A>G	c.(1399-1401)aaA>aaG	p.K467K	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	467					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTTTGAGTTTTTTTCACTG	0.318													T|||	74	0.0147764	0.0227	0.0086	5008	,	,		17674	0.003		0.004	False		,,,				2504	0.0317				p.K467K	Ovarian(194;1699 3813 22401)	Atlas-SNP	.											.	MBOAT2	36	.	0			c.A1401G						PASS	.	T		69,4337	61.7+/-98.7	1,67,2135	77	79	78		1401	1.2	0.8	2	dbSNP_126	78	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	MBOAT2	NM_138799.2		1,81,6421	CC,CT,TT		0.1628,1.566,0.6382		467/521	8998971	83,12923	2203	4300	6503	SO:0001819	synonymous_variant	129642	exon13			TTGAGTTTTTTTC	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1401A>G	2.37:g.8998971T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	106	45	0.424528	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	CCDS1660.1																																																																																			T|0.994;C|0.006	0.006	strong		0.318	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		C	8998971	T	C	8998971	2	2	22	1	0	0	0	0	0	0	0	1	9357	1838	64	2		2	MBOAT2	2	8998971	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1993735	8998971	234200402	1198	6306										
MBOAT2	129642	hgsc.bcm.edu	37	chr2	9013424	9013424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactaagagcttctgaacaaCcgcagtctgaaaagcgcaag	9	10	2	3	rs34573615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:9013424C>T	ENST00000305997.3	-	8	895	c.697G>A	c.(697-699)Gtt>Att	p.V233I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	233					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTGAACAACCGCAGTCTGA	0.398													C|||	71	0.0141773	0.0212	0.0086	5008	,	,		19264	0.003		0.004	False		,,,				2504	0.0307				p.V233I	Ovarian(194;1699 3813 22401)	Atlas-SNP	.											.	MBOAT2	36	.	0			c.G697A						PASS	.	C	ILE/VAL	69,4337	62.3+/-99.4	1,67,2135	83	81	82		697	5.2	0.1	2	dbSNP_126	82	13,8587	9.8+/-36.6	0,13,4287	yes	missense	MBOAT2	NM_138799.2	29	1,80,6422	TT,TC,CC		0.1512,1.566,0.6305	probably-damaging	233/521	9013424	82,12924	2203	4300	6503	SO:0001583	missense	129642	exon8			GAACAACCGCAGT	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.697G>A	2.37:g.9013424C>T	ENSP00000302177:p.Val233Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	95	61	0.642105	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	20	0.009157509157509158	14	0.028455284552845527	4	0.011049723756906077	0	0.0	2	0.002638522427440633	C	26.8	4.769230	0.90020	0.01566	0.001512	ENSG00000143797	ENST00000305997	T	0.72615	-0.67	5.22	5.22	0.72569	.	0.173169	0.50627	D	0.000119	T	0.71888	0.3393	M	0.88775	2.98	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.64506	0.92;0.926	D	0.83693	0.0178	10	0.72032	D	0.01	-23.1005	18.7799	0.91928	0.0:1.0:0.0:0.0	rs34573615	233;233	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	I	233	ENSP00000302177:V233I	ENSP00000302177:V233I	V	-	1	0	MBOAT2	8930875	1.000000	0.71417	0.062000	0.19696	0.024000	0.10985	7.292000	0.78731	2.418000	0.82041	0.460000	0.39030	GTT	C|0.994;T|0.006	0.006	strong		0.398	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		T	9013424	C	T	9013424	3	4	22	1	0	0	0	0	1	0	0	0	9357	507	18	2	889	2	MBOAT2	2	9013424	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14453	9013424	234185949	1199	6307										
GRHL1	29841	hgsc.bcm.edu	37	chr2	10101289	10101289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatggcaaccagctgggCattgataagagaggccatct	11	12	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10101289C>T	ENST00000324907.9	+	4	529	c.393C>T	c.(391-393)ggC>ggT	p.G131G	GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Silent_p.G131G	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	131					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACCAGCTGGGCATTGATAAGA	0.498																																					p.G131G		Atlas-SNP	.											.	GRHL1	95	.	0			c.C393T						PASS	.						77	84	81					2																	10101289		1327	2309	3636	SO:0001819	synonymous_variant	29841	exon4			GCTGGGCATTGAT	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.393C>T	2.37:g.10101289C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	181	80	0.441989	NM_198182	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	37	CCDS33144.2																																																																																			.	.	none		0.498	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		T	10101289	C	T	10101289	2	4	22	1	0	0	0	0	0	0	0	1	6763	697	25	2		2	GRHL1	2	10101289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1087865	10101289	233098084	1200	6308										
RRM2	6241	hgsc.bcm.edu	37	chr2	10263874	10263874	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacctcaggtggacctctcCaaggacattcagcactggga	11	12	3	0	rs5030743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10263874C>G	ENST00000304567.5	+	4	399	c.330C>G	c.(328-330)tcC>tcG	p.S110S	RP11-254F7.4_ENST00000607140.1_lincRNA|RRM2_ENST00000360566.2_Silent_p.S170S	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	110					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TGGACCTCTCCAAGGACATTC	0.438													C|||	135	0.0269569	0.0991	0.0058	5008	,	,		19414	0.0		0.0	False		,,,				2504	0.0				p.S170S		Atlas-SNP	.											.	RRM2	63	.	0			c.C510G						PASS	.	C	,	390,4016	196.4+/-220.7	16,358,1829	82	88	86		330,510	0.8	1	2	dbSNP_113	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RRM2	NM_001034.3,NM_001165931.1	,	16,358,6129	GG,GC,CC		0.0,8.8516,2.9986	,	110/390,170/450	10263874	390,12616	2203	4300	6503	SO:0001819	synonymous_variant	6241	exon4			CCTCTCCAAGGAC		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.330C>G	2.37:g.10263874C>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	56	30	0.535714	NM_001165931	B2R9B5|J3KP43|Q5WRU7	Silent	SNP	ENST00000304567.5	37	CCDS1669.1																																																																																			C|0.969;G|0.031	0.031	strong		0.438	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			G	10263874	C	G	10263874	2	3	22	1	0	0	0	0	0	0	0	1	13682	581	21	4		4	RRM2	2	10263874	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	162585	10263874	232935499	1201	6309										
NOL10	79954	hgsc.bcm.edu	37	chr2	10712278	10712278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttcctttcttgtcgatgCagtttctcagcctcctgttg	7	12	2	0	rs3732114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10712278C>T	ENST00000381685.5	-	21	2091	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	NOL10_ENST00000345985.3_Silent_p.L612L|NOL10_ENST00000538384.1_Silent_p.L636L|NOL10_ENST00000542668.1_Silent_p.L612L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	662						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGTCGATGCAGTTTCTCAG	0.443													C|||	1535	0.30651	0.5	0.3156	5008	,	,		19280	0.4335		0.1183	False		,,,				2504	0.1012				p.L662L		Atlas-SNP	.											.	NOL10	22	.	0			c.G1986A						PASS	.	C		2024,2382	563.2+/-381.1	482,1060,661	222	216	218		1986	4	1	2	dbSNP_107	218	955,7645	208.2+/-249.7	55,845,3400	no	coding-synonymous	NOL10	NM_024894.2		537,1905,4061	TT,TC,CC		11.1047,45.9374,22.9048		662/689	10712278	2979,10027	2203	4300	6503	SO:0001819	synonymous_variant	79954	exon21			TCGATGCAGTTTC	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1986G>A	2.37:g.10712278C>T		Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	341	175	0.513196	NM_024894	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	ENST00000381685.5	37	CCDS1673.2																																																																																			C|0.730;T|0.270	0.270	strong		0.443	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		T	10712278	C	T	10712278	2	4	22	1	0	0	0	0	0	0	0	1	10520	697	25	2		2	NOL10	2	10712278	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448404	10712278	232487095	1202	6310										
NOL10	79954	hgsc.bcm.edu	37	chr2	10729257	10729257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactggggctttaggactgTctgctggtcctccttgagtc	12	10	1	1	rs34359340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10729257T>C	ENST00000381685.5	-	19	1861	c.1756A>G	c.(1756-1758)Aca>Gca	p.T586A	NOL10_ENST00000345985.3_Missense_Mutation_p.T536A|NOL10_ENST00000538384.1_Missense_Mutation_p.T560A|NOL10_ENST00000542668.1_Missense_Mutation_p.T536A|AC092687.5_ENST00000414538.1_RNA	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	586						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTAGGACTGTCTGCTGGTCC	0.473													T|||	179	0.0357428	0.1301	0.0101	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0				p.T586A		Atlas-SNP	.											.	NOL10	22	.	0			c.A1756G						PASS	.	T	ALA/THR	471,3935	223.0+/-239.6	22,427,1754	167	172	170		1756	2.9	1	2	dbSNP_126	170	0,8600		0,0,4300	yes	missense	NOL10	NM_024894.2	58	22,427,6054	CC,CT,TT		0.0,10.69,3.6214	probably-damaging	586/689	10729257	471,12535	2203	4300	6503	SO:0001583	missense	79954	exon19			GGACTGTCTGCTG	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1756A>G	2.37:g.10729257T>C	ENSP00000371101:p.Thr586Ala	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	247	116	0.469636	NM_024894	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	CCDS1673.2	59	0.027014652014652016	57	0.11585365853658537	2	0.0055248618784530384	0	0.0	0	0.0	T	4.966	0.179358	0.09443	0.1069	0.0	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.40756	1.02;2.21;1.61;2.21	5.35	2.93	0.34026	.	0.131457	0.64402	N	0.000001	T	0.00496	0.0016	M	0.65975	2.015	0.58432	D	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.04737	-1.0930	10	0.07644	T	0.81	-16.2693	8.127	0.31005	0.0:0.0702:0.1358:0.794	rs34359340	560;586;536	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	A	536;586;536;560	ENSP00000263837:T536A;ENSP00000371101:T586A;ENSP00000437625:T536A;ENSP00000439663:T560A	ENSP00000263837:T536A	T	-	1	0	NOL10	10646708	1.000000	0.71417	0.966000	0.40874	0.758000	0.43043	2.567000	0.45956	0.415000	0.25817	-0.435000	0.05868	ACA	T|0.964;C|0.036	0.036	strong		0.473	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		C	10729257	T	C	10729257	3	2	22	1	0	0	0	0	1	0	0	0	10520	1667	58	2	322	2	NOL10	2	10729257	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16979	10729257	232470116	1203	6311										
NOL10	79954	hgsc.bcm.edu	37	chr2	10797952	10797952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaaatgaacggacttaatGggcagcccatactggtgatc	12	8	0	2	rs61737663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10797952G>A	ENST00000381685.5	-	11	927	c.822C>T	c.(820-822)ccC>ccT	p.P274P	NOL10_ENST00000345985.3_Intron|NOL10_ENST00000538384.1_Silent_p.P248P|NOL10_ENST00000542668.1_Silent_p.P224P	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	274						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGGACTTAATGGGCAGCCCAT	0.348													G|||	83	0.0165735	0.0582	0.0086	5008	,	,		18192	0.0		0.0	False		,,,				2504	0.0				p.P274P		Atlas-SNP	.											.	NOL10	22	.	0			c.C822T						PASS	.	G		67,1317		0,67,625	131	122	124		822	3.5	1	2	dbSNP_129	124	0,3182		0,0,1591	no	coding-synonymous	NOL10	NM_024894.2		0,67,2216	AA,AG,GG		0.0,4.841,1.4674		274/689	10797952	67,4499	692	1591	2283	SO:0001819	synonymous_variant	79954	exon11			CTTAATGGGCAGC	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.822C>T	2.37:g.10797952G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	192	92	0.479167	NM_024894	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	ENST00000381685.5	37	CCDS1673.2																																																																																			G|0.988;A|0.012	0.012	strong		0.348	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		A	10797952	G	A	10797952	2	1	22	1	0	0	0	0	0	0	0	1	10520	1335	47	2		2	NOL10	2	10797952	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68695	10797952	232401421	1204	6312										
ATP6V1C2	245973	hgsc.bcm.edu	37	chr2	10912719	10912719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatctctctcagacatggtGgtccctcgatcaaccaagta	8	12	3	1	rs72777388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10912719G>A	ENST00000272238.4	+	8	730	c.621G>A	c.(619-621)gtG>gtA	p.V207V	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.V207V	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	207					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CAGACATGGTGGTCCCTCGAT	0.512													G|||	622	0.124201	0.1558	0.1369	5008	,	,		21688	0.0526		0.2028	False		,,,				2504	0.0654				p.V207V	NSCLC(188;1042 2136 10807 16813 47705)	Atlas-SNP	.											.	ATP6V1C2	73	.	0			c.G621A						PASS	.	G	,	651,3755	278.4+/-274.2	45,561,1597	273	273	273		621,621	2.2	1	2	dbSNP_130	273	1774,6826	322.0+/-315.3	187,1400,2713	no	coding-synonymous,coding-synonymous	ATP6V1C2	NM_001039362.1,NM_144583.3	,	232,1961,4310	AA,AG,GG		20.6279,14.7753,18.6452	,	207/428,207/382	10912719	2425,10581	2203	4300	6503	SO:0001819	synonymous_variant	245973	exon8			CATGGTGGTCCCT	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.621G>A	2.37:g.10912719G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_001039362	Q96EL8	Silent	SNP	ENST00000272238.4	37	CCDS42653.1																																																																																			G|0.830;A|0.170	0.170	strong		0.512	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		A	10912719	G	A	10912719	2	1	22	1	0	0	0	0	0	0	0	1	1181	1335	47	2		2	ATP6V1C2	2	10912719	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	114767	10912719	232286654	1205	6313										
PDIA6	10130	hgsc.bcm.edu	37	chr2	10930903	10930903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagctgccagtttcactTttcctttcgtctgctctttt	5	14	3	0	rs4807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10930903T>C	ENST00000272227.3	-	7	788	c.641A>G	c.(640-642)aAa>aGa	p.K214R	PDIA6_ENST00000404371.2_Missense_Mutation_p.K266R|PDIA6_ENST00000404824.2_Missense_Mutation_p.K262R|PDIA6_ENST00000540494.1_Missense_Mutation_p.K211R|PDIA6_ENST00000381611.4_Missense_Mutation_p.K219R	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	214	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.		K -> R (in dbSNP:rs4807). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9110174}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAGTTTCACTTTTCCTTTCGT	0.438													T|||	1409	0.28135	0.1059	0.3372	5008	,	,		22101	0.3948		0.2654	False		,,,				2504	0.3783				p.K214R	GBM(73;509 1219 34219 41343 41551)	Atlas-SNP	.											PDIA6,colon,carcinoma,0,1	PDIA6	31	1	0			c.A641G						PASS	.	T	ARG/LYS	547,3859	246.2+/-254.9	35,477,1691	153	148	150		641	4.6	0.9	2	dbSNP_52	150	2453,6147	404.7+/-348.2	368,1717,2215	yes	missense	PDIA6	NM_005742.2	26	403,2194,3906	CC,CT,TT		28.5233,12.4149,23.0663	possibly-damaging	214/441	10930903	3000,10006	2203	4300	6503	SO:0001583	missense	10130	exon7			TTCACTTTTCCTT	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.641A>G	2.37:g.10930903T>C	ENSP00000272227:p.Lys214Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	154	77	0.5	NM_005742	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	592	0.27106227106227104	57	0.11585365853658537	130	0.35911602209944754	202	0.3531468531468531	203	0.2678100263852243	T	17.41	3.381466	0.61845	0.124149	0.285233	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.71	4.56	0.56223	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.044045	0.85682	N	0.000000	T	0.00012	0.0000	L	0.39467	1.215	0.09310	P	0.99999999214648	B;B;B;B	0.20887	0.049;0.014;0.007;0.003	P;B;B;B	0.45099	0.469;0.084;0.033;0.027	T	0.51733	-0.8668	9	0.54805	T	0.06	.	11.426	0.50012	0.0:0.07:0.0:0.93	rs4807;rs1059775;rs3200587;rs3732109;rs52800710;rs60679704;rs4807	211;262;266;214	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	R	214;266;262;211;219	ENSP00000272227:K214R;ENSP00000385385:K266R;ENSP00000384459:K262R;ENSP00000438778:K211R;ENSP00000371024:K219R	ENSP00000272227:K214R	K	-	2	0	PDIA6	10848354	1.000000	0.71417	0.930000	0.37139	0.986000	0.74619	5.144000	0.64832	1.016000	0.39470	0.533000	0.62120	AAA	T|0.748;C|0.252	0.252	strong		0.438	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		C	10930903	T	C	10930903	3	2	22	1	0	0	0	0	1	0	0	0	11672	1841	64	2	709	2	PDIA6	2	10930903	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18184	10930903	232268470	1206	6314										
PDIA6	10130	hgsc.bcm.edu	37	chr2	10933249	10933249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaactgtatcctccgctCcgtcccccgaggcgatcctt	8	18	0	1	rs4799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10933249C>T	ENST00000272227.3	-	5	573	c.426G>A	c.(424-426)cgG>cgA	p.R142R	PDIA6_ENST00000381611.4_Silent_p.R147R|PDIA6_ENST00000404371.2_Silent_p.R194R|PDIA6_ENST00000404824.2_Silent_p.R190R|PDIA6_ENST00000540494.1_Silent_p.R139R	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	142					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATCCTCCGCTCCGTCCCCCGA	0.483													C|||	1934	0.386182	0.1619	0.4784	5008	,	,		18105	0.4583		0.4781	False		,,,				2504	0.455				p.R142R	GBM(73;509 1219 34219 41343 41551)	Atlas-SNP	.											.	PDIA6	31	.	0			c.G426A						PASS	.	C		947,3459	358.4+/-314.3	118,711,1374	102	93	96		426	1.5	0	2	dbSNP_52	96	4355,4245	581.0+/-391.2	1093,2169,1038	no	coding-synonymous	PDIA6	NM_005742.2		1211,2880,2412	TT,TC,CC		49.3605,21.4934,40.7658		142/441	10933249	5302,7704	2203	4300	6503	SO:0001819	synonymous_variant	10130	exon5			TCCGCTCCGTCCC	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.426G>A	2.37:g.10933249C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	165	76	0.460606	NM_005742	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	CCDS1675.1																																																																																			C|0.592;T|0.408	0.408	strong		0.483	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		T	10933249	C	T	10933249	2	4	22	1	0	0	0	0	0	0	0	1	11672	842	30	2		2	PDIA6	2	10933249	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2346	10933249	232266124	1207	6315										
PDIA6	10130	hgsc.bcm.edu	37	chr2	10933294	10933294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggcgcagagcactcagCgcagcatctacaatggcttc	11	13	2	1	rs114716918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10933294C>T	ENST00000272227.3	-	5	528	c.381G>A	c.(379-381)gcG>gcA	p.A127A	PDIA6_ENST00000381611.4_Silent_p.A132A|PDIA6_ENST00000404371.2_Silent_p.A179A|PDIA6_ENST00000404824.2_Silent_p.A175A|PDIA6_ENST00000540494.1_Silent_p.A124A	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	127	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GAGCACTCAGCGCAGCATCTA	0.562													C|||	65	0.0129792	0.0469	0.0043	5008	,	,		16285	0.0		0.0	False		,,,				2504	0.0				p.A127A	GBM(73;509 1219 34219 41343 41551)	Atlas-SNP	.											PDIA6,NS,carcinoma,-1,1	PDIA6	31	1	0			c.G381A						PASS	.	C		124,4282	91.6+/-130.3	2,120,2081	88	78	81		381	-11.8	0	2	dbSNP_132	81	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	PDIA6	NM_005742.2		2,125,6376	TT,TC,CC		0.0581,2.8143,0.9918		127/441	10933294	129,12877	2203	4300	6503	SO:0001819	synonymous_variant	10130	exon5			ACTCAGCGCAGCA	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.381G>A	2.37:g.10933294C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	161	83	0.515528	NM_005742	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	CCDS1675.1																																																																																			C|0.990;T|0.010	0.010	strong		0.562	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		T	10933294	C	T	10933294	2	4	22	1	0	0	0	0	0	0	0	1	11672	755	27	1		1	PDIA6	2	10933294	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45	10933294	232266079	1208	6316										
PDIA6	10130	hgsc.bcm.edu	37	chr2	10942687	10942687	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataacttctcggttgaaattCgatggagttaattcgatcac	8	7	2	1	rs4758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:10942687C>T	ENST00000272227.3	-	2	246	c.99G>A	c.(97-99)tcG>tcA	p.S33S	PDIA6_ENST00000404371.2_Silent_p.S85S|PDIA6_ENST00000404824.2_Silent_p.S81S|PDIA6_ENST00000540494.1_Silent_p.S30S|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000381611.4_Silent_p.S38S	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	33	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGTTGAAATTCGATGGAGTTA	0.358													T|||	2303	0.459864	0.1989	0.5245	5008	,	,		19515	0.4613		0.5835	False		,,,				2504	0.638				p.S33S	GBM(73;509 1219 34219 41343 41551)	Atlas-SNP	.											.	PDIA6	31	.	0			c.G99A						PASS	.	T		1192,3214	710.4+/-407.9	179,834,1190	91	84	86		99	-6.5	0.8	2	dbSNP_52	86	5117,3483	510.2+/-377.4	1506,2105,689	no	coding-synonymous	PDIA6	NM_005742.2		1685,2939,1879	TT,TC,CC		40.5,27.054,48.5084		33/441	10942687	6309,6697	2203	4300	6503	SO:0001819	synonymous_variant	10130	exon2			GAAATTCGATGGA	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.99G>A	2.37:g.10942687C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	175	87	0.497143	NM_005742	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	CCDS1675.1																																																																																			C|0.523;T|0.477	0.477	strong		0.358	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		T	10942687	C	T	10942687	2	4	22	1	0	0	0	0	0	0	0	1	11672	871	31	1		1	PDIA6	2	10942687	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9393	10942687	232256686	1209	6317										
ROCK2	9475	hgsc.bcm.edu	37	chr2	11484212	11484212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcctgccccgtcccccggCgcggtctcgggggcgccggg	18	19	1	0	rs368832806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11484212C>A	ENST00000315872.6	-	1	499	c.51G>T	c.(49-51)gcG>gcT	p.A17A	ROCK2_ENST00000462366.1_Intron	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	17					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CGTCCCCCGGCGCGGTCTCGG	0.741													C|||	9	0.00179712	0.0061	0.0	5008	,	,		9307	0.001		0.0	False		,,,				2504	0.0				p.A17A		Atlas-SNP	.											ROCK2_ENST00000315872,NS,carcinoma,-2,2	ROCK2	224	2	0			c.G51T						PASS	.	C		7,3463		0,7,1728	10	12	11		51	-1.3	0	2		11	0,7918		0,0,3959	no	coding-synonymous	ROCK2	NM_004850.3		0,7,5687	AA,AC,CC		0.0,0.2017,0.0615		17/1389	11484212	7,11381	1735	3959	5694	SO:0001819	synonymous_variant	9475	exon1			CCCCGGCGCGGTC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.51G>T	2.37:g.11484212C>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	53	35	0.660377	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	CCDS42654.1																																																																																			.	.	weak		0.741	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			A	11484212	C	A	11484212	2	1	22	1	0	0	0	0	0	0	0	1	13518	755	27	4		4	ROCK2	2	11484212	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	541525	11484212	231715161	1210	6318										
GREB1	9687	hgsc.bcm.edu	37	chr2	11706693	11706693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctttctcctcgtgggggTcaagtcccccagcctgccgg	14	15	2	0	rs4669751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11706693T>C	ENST00000381486.2	+	4	665	c.365T>C	c.(364-366)gTc>gCc	p.V122A	GREB1_ENST00000234142.5_Missense_Mutation_p.V122A|GREB1_ENST00000263834.5_Missense_Mutation_p.V122A|GREB1_ENST00000381483.2_Missense_Mutation_p.V122A|GREB1_ENST00000389825.3_Missense_Mutation_p.V12A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	122			V -> A (in dbSNP:rs4669751).			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)		CTCGTGGGGGTCAAGTCCCCC	0.597													C|||	1719	0.343251	0.7663	0.1499	5008	,	,		16677	0.2401		0.1093	False		,,,				2504	0.2556				p.V122A	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.T365C						PASS	.	C	ALA/VAL,ALA/VAL,ALA/VAL	2710,1696	512.1+/-368.0	853,1004,346	105	95	99		365,365,365	4.6	1	2	dbSNP_111	99	921,7679	777.5+/-407.7	51,819,3430	yes	missense,missense,missense	GREB1	NM_014668.3,NM_033090.2,NM_148903.2	64,64,64	904,1823,3776	CC,CT,TT		10.7093,38.493,27.9179	benign,benign,benign	122/1950,122/458,122/410	11706693	3631,9375	2203	4300	6503	SO:0001583	missense	9687	exon4			TGGGGGTCAAGTC		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.365T>C	2.37:g.11706693T>C	ENSP00000370896:p.Val122Ala	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	643	0.2944139194139194	358	0.7276422764227642	58	0.16022099447513813	144	0.2517482517482518	83	0.10949868073878628	C	6.279	0.419512	0.11928	0.61507	0.107093	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.39787	3.46;2.37;1.06;2.39;3.46	5.51	4.63	0.57726	.	0.069830	0.64402	N	0.000020	T	0.00012	0.0000	N	0.00841	-1.15	0.41610	P	0.011090999999999962	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	0.43653	-0.9378	9	0.02654	T	1	-40.3849	9.3506	0.38136	0.0:0.7832:0.0:0.2168	rs4669751;rs57292736;rs4669751	122;12;122;122	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	A	122;122;12;122;122	ENSP00000370896:V122A;ENSP00000263834:V122A;ENSP00000374475:V12A;ENSP00000370892:V122A;ENSP00000234142:V122A	ENSP00000234142:V122A	V	+	2	0	GREB1	11624144	0.950000	0.32346	1.000000	0.80357	0.984000	0.73092	1.195000	0.32186	0.709000	0.31976	-0.119000	0.15052	GTC	T|0.700;C|0.300	0.300	strong		0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		C	11706693	T	C	11706693	3	2	22	1	0	0	0	0	1	0	0	0	6760	1667	58	2	375	2	GREB1	2	11706693	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	222481	11706693	231492680	1211	6319										
GREB1	9687	hgsc.bcm.edu	37	chr2	11725908	11725908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcgcaggcatgtcctgcGtgccgcaggttggcttggtg	17	10	0	1	rs6744817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11725908G>A	ENST00000381486.2	+	9	1336	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	GREB1_ENST00000381483.2_Missense_Mutation_p.V346M|GREB1_ENST00000263834.5_Missense_Mutation_p.V346M|RN7SL674P_ENST00000463397.2_RNA|GREB1_ENST00000234142.5_Missense_Mutation_p.V346M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	346			V -> M (in dbSNP:rs6744817).			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)		CATGTCCTGCGTGCCGCAGGT	0.522													G|||	493	0.0984425	0.3041	0.036	5008	,	,		22068	0.0317		0.003	False		,,,				2504	0.0317				p.V346M	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.G1036A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL	1125,3281	402.6+/-332.4	145,835,1223	88	80	83		1036,1036,1036	-8.3	0.1	2	dbSNP_116	83	29,8571	19.2+/-60.6	0,29,4271	yes	missense,missense,missense	GREB1	NM_014668.3,NM_033090.2,NM_148903.2	21,21,21	145,864,5494	AA,AG,GG		0.3372,25.5334,8.8728	benign,benign,benign	346/1950,346/458,346/410	11725908	1154,11852	2203	4300	6503	SO:0001583	missense	9687	exon9			TCCTGCGTGCCGC		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.1036G>A	2.37:g.11725908G>A	ENSP00000370896:p.Val346Met	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	148	147	0.993243	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	175	0.08012820512820513	142	0.2886178861788618	11	0.03038674033149171	20	0.03496503496503497	2	0.002638522427440633	G	2.542	-0.306091	0.05458	0.255334	0.003372	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.19938	3.11;2.11;2.11;3.11	5.46	-8.28	0.01013	.	0.941025	0.08955	N	0.869523	T	0.00012	0.0000	N	0.11560	0.145	0.48395	P	3.589999999999982E-4	B;B;B	0.19331	0.035;0.008;0.004	B;B;B	0.17979	0.02;0.003;0.005	T	0.44128	-0.9348	9	0.29301	T	0.29	-18.7477	3.0304	0.06104	0.5071:0.2169:0.1333:0.1426	rs6744817;rs6744817	346;346;346	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	M	346	ENSP00000370896:V346M;ENSP00000263834:V346M;ENSP00000370892:V346M;ENSP00000234142:V346M	ENSP00000234142:V346M	V	+	1	0	GREB1	11643359	0.150000	0.22732	0.089000	0.20774	0.009000	0.06853	-0.391000	0.07323	-1.342000	0.02222	-0.808000	0.03180	GTG	G|0.906;A|0.094	0.094	strong		0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11725908	G	A	11725908	3	1	22	1	0	0	0	0	1	0	0	0	6760	1145	40	1	1066	1	GREB1	2	11725908	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19215	11725908	231473465	1212	6320										
GREB1	9687	hgsc.bcm.edu	37	chr2	11736305	11736305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatatttcttcctcactcGctgcctcttctgtcactaaa	4	15	5	0	rs36030386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11736305G>A	ENST00000381486.2	+	13	2194	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	GREB1_ENST00000234142.5_Missense_Mutation_p.A632T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	632			A -> T (in dbSNP:rs36030386).			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)		TTCCTCACTCGCTGCCTCTTC	0.478													A|||	1079	0.215455	0.5696	0.1182	5008	,	,		15567	0.0317		0.1362	False		,,,				2504	0.0767				p.A632T	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.G1894A						PASS	.	A	THR/ALA	1771,2279		397,977,651	118	111	113		1894	1.4	0.1	2	dbSNP_126	113	1194,7216		93,1008,3104	yes	missense	GREB1	NM_014668.3	58	490,1985,3755	AA,AG,GG		14.1974,43.7284,23.7961	benign	632/1950	11736305	2965,9495	2025	4205	6230	SO:0001583	missense	9687	exon13			TCACTCGCTGCCT		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.1894G>A	2.37:g.11736305G>A	ENSP00000370896:p.Ala632Thr	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	422	0.19322344322344323	253	0.5142276422764228	44	0.12154696132596685	20	0.03496503496503497	105	0.13852242744063326	A	1.886	-0.456552	0.04540	0.437284	0.141974	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.43294	3.29;3.29;0.95	4.63	1.38	0.22167	.	1.029010	0.07715	N	0.942640	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45906	-0.9229	9	0.08599	T	0.76	-34.9125	0.7537	0.00995	0.458:0.129:0.2244:0.1886	rs36030386	266;632	C9JIG0;Q4ZG55	.;GREB1_HUMAN	T	632;632;266	ENSP00000370896:A632T;ENSP00000234142:A632T;ENSP00000403886:A266T	ENSP00000234142:A632T	A	+	1	0	GREB1	11653756	0.010000	0.17322	0.058000	0.19502	0.940000	0.58332	-0.047000	0.11963	-0.071000	0.12886	-1.189000	0.01698	GCT	G|0.826;A|0.174	0.174	strong		0.478	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11736305	G	A	11736305	3	1	22	1	0	0	0	0	1	0	0	0	6760	1087	38	1	2048	1	GREB1	2	11736305	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10397	11736305	231463068	1213	6321										
GREB1	9687	hgsc.bcm.edu	37	chr2	11755316	11755316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcctactttgtgagcaaCgaggttcccttggagaaggg	14	9	0	2	rs16857699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11755316C>T	ENST00000381486.2	+	20	3522	c.3222C>T	c.(3220-3222)aaC>aaT	p.N1074N	GREB1_ENST00000396123.1_Silent_p.N72N|GREB1_ENST00000234142.5_Silent_p.N1074N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1074						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)		TTGTGAGCAACGAGGTTCCCT	0.562													C|||	318	0.0634984	0.23	0.0187	5008	,	,		21207	0.0		0.001	False		,,,				2504	0.0				p.N1074N	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.C3222T						PASS	.	C		736,3390		56,624,1383	85	87	86		3222	-3.1	0.1	2	dbSNP_123	86	9,8407		0,9,4199	no	coding-synonymous	GREB1	NM_014668.3		56,633,5582	TT,TC,CC		0.1069,17.8381,5.94		1074/1950	11755316	745,11797	2063	4208	6271	SO:0001819	synonymous_variant	9687	exon20			GAGCAACGAGGTT		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.3222C>T	2.37:g.11755316C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	159	159	1	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																			C|0.946;T|0.054	0.054	strong		0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11755316	C	T	11755316	2	4	22	1	0	0	0	0	0	0	0	1	6760	535	19	1		1	GREB1	2	11755316	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19011	11755316	231444057	1214	6322										
GREB1	9687	hgsc.bcm.edu	37	chr2	11774324	11774324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacatcgaggcggcccccGacatcatgcactacgccctg	10	17	1	0	rs2304402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11774324G>A	ENST00000381486.2	+	29	5359	c.5059G>A	c.(5059-5061)Gac>Aac	p.D1687N	GREB1_ENST00000396123.1_Missense_Mutation_p.D685N|GREB1_ENST00000234142.5_Missense_Mutation_p.D1687N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1687			D -> N (in dbSNP:rs2304402). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.			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)		GGCGGCCCCCGACATCATGCA	0.617													A|||	2028	0.404952	0.4213	0.3573	5008	,	,		19371	0.2996		0.4771	False		,,,				2504	0.4509				p.D1687N	Ovarian(39;850 945 2785 23371 33093)	Atlas-SNP	.											.	GREB1	308	.	0			c.G5059A						PASS	.	A	ASN/ASP	1815,2467		399,1017,725	88	96	94		5059	1.2	0.9	2	dbSNP_100	94	4301,4199		1117,2067,1066	yes	missense	GREB1	NM_014668.3	23	1516,3084,1791	AA,AG,GG		49.4,42.3867,47.8485	benign	1687/1950	11774324	6116,6666	2141	4250	6391	SO:0001583	missense	9687	exon29			GCCCCCGACATCA		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.5059G>A	2.37:g.11774324G>A	ENSP00000370896:p.Asp1687Asn	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	235	234	0.995745	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	893	0.4088827838827839	223	0.4532520325203252	141	0.38950276243093923	176	0.3076923076923077	353	0.4656992084432718	A	2.656	-0.280878	0.05642	0.423867	0.506	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.40756	1.02;1.02;1.02	5.01	1.17	0.20885	.	0.250963	0.42053	N	0.000763	T	0.00012	0.0000	N	0.02960	-0.455	0.53688	P	2.199999999996649E-5	B	0.06786	0.001	B	0.06405	0.002	T	0.47341	-0.9125	9	0.05351	T	0.99	-24.3036	9.4069	0.38466	0.6384:0.0:0.3616:0.0	rs2304402;rs17602548;rs58433267;rs2304402	1687	Q4ZG55	GREB1_HUMAN	N	1687;1687;685	ENSP00000370896:D1687N;ENSP00000234142:D1687N;ENSP00000379429:D685N	ENSP00000234142:D1687N	D	+	1	0	GREB1	11691775	0.523000	0.26274	0.861000	0.33841	0.137000	0.21094	1.219000	0.32479	-0.305000	0.08831	-0.521000	0.04368	GAC	G|0.556;A|0.444	0.444	strong		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11774324	G	A	11774324	3	1	22	1	0	0	0	0	1	0	0	0	6760	1058	37	1	5277	1	GREB1	2	11774324	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19008	11774324	231425049	1215	6323										
NTSR2	23620	hgsc.bcm.edu	37	chr2	11798675	11798675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgggactctggggcttcGggggtaaccgcttcatgggg	20	8	2	0	rs61753869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11798675G>A	ENST00000306928.5	-	4	1197	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	388					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGGGGCTTCGGGGGTAACCG	0.547													G|||	438	0.0874601	0.3139	0.0317	5008	,	,		18790	0.0		0.001	False		,,,				2504	0.0				p.P388L		Atlas-SNP	.											NTSR2,NS,carcinoma,-1,1	NTSR2	36	1	0			c.C1163T						PASS	.	G	LEU/PRO	1267,3139	432.6+/-343.3	190,887,1126	72	76	75		1163	-8.2	0	2	dbSNP_129	75	11,8589	5.7+/-21.5	0,11,4289	yes	missense	NTSR2	NM_012344.3	98	190,898,5415	AA,AG,GG		0.1279,28.7562,9.8262	benign	388/411	11798675	1278,11728	2203	4300	6503	SO:0001583	missense	23620	exon4			GGCTTCGGGGGTA	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1163C>T	2.37:g.11798675G>A	ENSP00000303686:p.Pro388Leu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	152	69	0.453947	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	CCDS1681.1	173	0.07921245421245421	161	0.32723577235772355	12	0.03314917127071823	0	0.0	0	0.0	G	3.400	-0.122456	0.06795	0.287562	0.001279	ENSG00000169006	ENST00000306928	T	0.37235	1.21	4.1	-8.2	0.01045	.	15.571800	0.00166	N	0.000000	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13818	-1.0495	9	0.27082	T	0.32	.	2.7725	0.05338	0.0979:0.1785:0.2918:0.4318	.	388	O95665	NTR2_HUMAN	L	388	ENSP00000303686:P388L	ENSP00000303686:P388L	P	-	2	0	NTSR2	11716126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.423000	0.01030	-3.062000	0.00256	-3.395000	0.00039	CCG	G|0.911;A|0.089	0.089	strong		0.547	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			A	11798675	G	A	11798675	3	1	22	1	0	0	0	0	1	0	0	0	10711	1116	39	1	73	1	NTSR2	2	11798675	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24351	11798675	231400698	1216	6324										
NTSR2	23620	hgsc.bcm.edu	37	chr2	11800180	11800180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacactcactcagtccacgcGtcatcaggtacgtagcagta	8	14	4	0	rs35653499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11800180G>A	ENST00000306928.5	-	3	1012	c.978C>T	c.(976-978)gaC>gaT	p.D326D		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	326					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CAGTCCACGCGTCATCAGGTA	0.602													G|||	81	0.0161741	0.0446	0.0086	5008	,	,		21158	0.0159		0.0	False		,,,				2504	0.0				p.D326D		Atlas-SNP	.											.	NTSR2	36	.	0			c.C978T						PASS	.	G		196,4210	122.1+/-159.5	7,182,2014	105	89	95		978	-1.8	0	2	dbSNP_126	95	0,8600		0,0,4300	no	coding-synonymous	NTSR2	NM_012344.3		7,182,6314	AA,AG,GG		0.0,4.4485,1.507		326/411	11800180	196,12810	2203	4300	6503	SO:0001819	synonymous_variant	23620	exon3			CCACGCGTCATCA	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.978C>T	2.37:g.11800180G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	105	55	0.52381	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																			G|0.982;A|0.018	0.018	strong		0.602	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			A	11800180	G	A	11800180	2	1	22	1	0	0	0	0	0	0	0	1	10711	1136	40	1		1	NTSR2	2	11800180	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1505	11800180	231399193	1217	6325										
LPIN1	23175	hgsc.bcm.edu	37	chr2	11913806	11913806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaggaaaacctctccctGgctgtgatttaccctcagtc	8	14	2	2	rs59909741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:11913806G>A	ENST00000256720.2	+	5	750	c.657G>A	c.(655-657)ctG>ctA	p.L219L	LPIN1_ENST00000449576.2_Silent_p.L268L|LPIN1_ENST00000425416.2_Silent_p.L225L|LPIN1_ENST00000396098.1_Silent_p.L225L|LPIN1_ENST00000396099.1_Silent_p.L225L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	219					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.A220_V221delAV(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCTCTCCCTGGCTGTGATTT	0.448													G|||	343	0.0684904	0.2451	0.013	5008	,	,		13992	0.0		0.001	False		,,,				2504	0.0092				p.L268L		Atlas-SNP	.											.	LPIN1	99	.	1	Deletion - In frame(1)	kidney(1)	c.G804A						PASS	.	G		939,3467	359.6+/-314.9	93,753,1357	124	127	126		657	-11	0	2	dbSNP_129	126	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	LPIN1	NM_145693.1		93,765,5645	AA,AG,GG		0.1395,21.3118,7.312		219/891	11913806	951,12055	2203	4300	6503	SO:0001819	synonymous_variant	23175	exon6			CTCCCTGGCTGTG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.657G>A	2.37:g.11913806G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	92	41	0.445652	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																			G|0.937;A|0.063	0.063	strong		0.448	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11913806	G	A	11913806	2	1	22	1	0	0	0	0	0	0	0	1	8918	1335	47	2		2	LPIN1	2	11913806	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113626	11913806	231285567	1218	6326										
NBAS	51594	hgsc.bcm.edu	37	chr2	15358939	15358939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagaatggcttcagttctAaagaacacgaggagcttgct	11	7	2	2	rs114448506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:15358939A>C	ENST00000281513.5	-	48	6415	c.6390T>G	c.(6388-6390)ttT>ttG	p.F2130L	NBAS_ENST00000441750.1_Missense_Mutation_p.F2010L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2130					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						CTTCAGTTCTAAAGAACACGA	0.517													A|||	12	0.00239617	0.0091	0.0	5008	,	,		19280	0.0		0.0	False		,,,				2504	0.0				p.F2130L		Atlas-SNP	.											.	NBAS	246	.	0			c.T6390G						PASS	.	A	LEU/PHE	37,4369	42.3+/-75.8	0,37,2166	68	73	71		6390	-4.2	0	2	dbSNP_132	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NBAS	NM_015909.2	22	0,38,6465	CC,CA,AA		0.0116,0.8398,0.2922	possibly-damaging	2130/2372	15358939	38,12968	2203	4300	6503	SO:0001583	missense	51594	exon48			AGTTCTAAAGAAC	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.6390T>G	2.37:g.15358939A>C	ENSP00000281513:p.Phe2130Leu	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	238	127	0.533613	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	5|5	0.0022893772893772895|0.0022893772893772895	5|5	0.01016260162601626|0.01016260162601626	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	14.99|14.99	2.699080|2.699080	0.48307|0.48307	0.008398|0.008398	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.09255|.	3.0;3.17|.	5.63|5.63	-4.15|-4.15	0.03881|0.03881	.|.	0.248251|.	0.47455|.	D|.	0.000222|.	T|.	0.55752|.	0.1940|.	M|M	0.65498|0.65498	2.005|2.005	0.32809|0.32809	D|D	0.501197|0.501197	P;B|.	0.43231|.	0.801;0.397|.	P;B|.	0.44811|.	0.461;0.176|.	T|.	0.65405|.	-0.6176|.	10|.	0.87932|.	D|.	0|.	.|.	16.982|16.982	0.86331|0.86331	0.1405:0.0:0.8595:0.0|0.1405:0.0:0.8595:0.0	.|.	2010;2130|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|X	2010;2130|1178	ENSP00000413201:F2010L;ENSP00000281513:F2130L|.	ENSP00000281513:F2130L|.	F|L	-|-	3|2	2|0	NBAS|NBAS	15276390|15276390	0.998000|0.998000	0.40836|0.40836	0.001000|0.001000	0.08648|0.08648	0.824000|0.824000	0.46624|0.46624	1.102000|1.102000	0.31050|0.31050	-1.413000|-1.413000	0.02027|0.02027	-0.326000|-0.326000	0.08463|0.08463	TTT|TTA	A|0.997;C|0.003	0.003	strong		0.517	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		C	15358939	A	C	15358939	3	2	22	1	0	0	0	0	1	0	0	0	10186	359	13	5	745	5	NBAS	2	15358939	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3445133	15358939	227840434	1219	6327										
GEN1	348654	hgsc.bcm.edu	37	chr2	17961321	17961321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaatcattgtttgaagcAgcatatcctgagatcgttgc	10	7	1	3	rs16983864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:17961321A>G	ENST00000381254.2	+	13	1555	c.1341A>G	c.(1339-1341)gcA>gcG	p.A447A	GEN1_ENST00000317402.7_Silent_p.A447A|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	447					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTTGAAGCAGCATATCCTG	0.308								Homologous recombination					A|||	236	0.0471246	0.1377	0.0072	5008	,	,		18870	0.0308		0.005	False		,,,				2504	0.0133				p.A447A		Atlas-SNP	.											.	GEN1	79	.	0			c.A1341G						PASS	.	A	,	466,3940	216.4+/-235.1	23,420,1760	62	64	64		1341,1341	-0.6	1	2	dbSNP_123	64	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous,coding-synonymous	GEN1	NM_001130009.1,NM_182625.3	,	23,454,6026	GG,GA,AA		0.3953,10.5765,3.8444	,	447/909,447/909	17961321	500,12506	2203	4300	6503	SO:0001819	synonymous_variant	348654	exon13			TGAAGCAGCATAT	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1341A>G	2.37:g.17961321A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_182625	Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	CCDS1691.1																																																																																			A|0.963;G|0.037	0.037	strong		0.308	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		G	17961321	A	G	17961321	2	3	22	1	0	0	0	0	0	0	0	1	6335	175	7	3		3	GEN1	2	17961321	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2602382	17961321	225238052	1220	6328										
GEN1	348654	hgsc.bcm.edu	37	chr2	17962117	17962117	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaagaacagttcatgtcTtctctaagacctttggctat	7	10	3	2	rs61762986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:17962117T>A	ENST00000381254.2	+	14	1852	c.1638T>A	c.(1636-1638)tcT>tcA	p.S546S	GEN1_ENST00000317402.7_Silent_p.S546S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	546					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTTCATGTCTTCTCTAAGAC	0.363								Homologous recombination					T|||	50	0.00998403	0.0121	0.0216	5008	,	,		18882	0.0		0.0189	False		,,,				2504	0.0				p.S546S		Atlas-SNP	.											.	GEN1	79	.	0			c.T1638A						PASS	.	T	,	64,4342	61.1+/-98.1	1,62,2140	82	77	79		1638,1638	0	0.7	2	dbSNP_129	79	126,8474	64.2+/-126.4	4,118,4178	no	coding-synonymous,coding-synonymous	GEN1	NM_001130009.1,NM_182625.3	,	5,180,6318	AA,AT,TT		1.4651,1.4526,1.4609	,	546/909,546/909	17962117	190,12816	2203	4300	6503	SO:0001819	synonymous_variant	348654	exon14			CATGTCTTCTCTA	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1638T>A	2.37:g.17962117T>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_182625	Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	CCDS1691.1																																																																																			T|0.987;A|0.013	0.013	strong		0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		A	17962117	T	A	17962117	2	1	22	1	0	0	0	0	0	0	0	1	6335	1596	56	5		5	GEN1	2	17962117	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	796	17962117	225237256	1221	6329										
NT5C1B	93034	hgsc.bcm.edu	37	chr2	18757501	18757501	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatactggaagaatttgtcGagcccatgctccttggtaaa	9	9	1	1	rs3902946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:18757501G>C	ENST00000359846.2	-	9	1535	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	NT5C1B_ENST00000304081.4_Silent_p.L426L|NT5C1B-RDH14_ENST00000532967.1_Silent_p.L486L|NT5C1B_ENST00000600945.1_Silent_p.L486L	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	486					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGAATTTGTCGAGCCCATGCT	0.398													C|||	1574	0.314297	0.6649	0.3127	5008	,	,		17787	0.1081		0.1948	False		,,,				2504	0.1769				p.L503L		Atlas-SNP	.											.	NT5C1B	72	.	0			c.C1509G						PASS	.	C	,,,,,,	2591,1815	530.8+/-373.0	754,1083,366	81	76	78		1458,1407,1509,1464,1284,1458,1278	2	1	2	dbSNP_108	78	1796,6804	732.6+/-406.8	195,1406,2699	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	949,2489,3065	CC,CG,GG		20.8837,41.1938,33.7306	,,,,,,	486/611,469/594,503/628,488/613,428/651,486/603,426/551	18757501	4387,8619	2203	4300	6503	SO:0001819	synonymous_variant	93034	exon9			TTTGTCGAGCCCA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1458C>G	2.37:g.18757501G>C		Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	419	206	0.491647	NM_001199087	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1	648	0.2967032967032967	323	0.6565040650406504	104	0.287292817679558	64	0.11188811188811189	157	0.20712401055408972	C	0.259	-1.000911	0.02128	0.588062	0.208837	ENSG00000185013	ENST00000418427	.	.	.	5.33	1.98	0.26296	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.41034	-0.9531	3	.	.	.	-1.9764	6.9441	0.24508	0.0:0.5707:0.1303:0.299	rs3902946;rs58362593;rs3902946	.	.	.	G	141	.	.	R	-	1	2	NT5C1B	18620982	0.389000	0.25205	1.000000	0.80357	0.042000	0.13812	-0.321000	0.08018	0.324000	0.23333	-0.120000	0.15030	CGA	G|0.689;C|0.311	0.311	strong		0.398	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			C	18757501	G	C	18757501	2	2	22	1	0	0	0	0	0	0	0	1	10686	1045	37	4		4	NT5C1B	2	18757501	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	795384	18757501	224441872	1222	6330										
NT5C1B	93034	hgsc.bcm.edu	37	chr2	18766123	18766123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggccgcgagtccagcgacCggggcagctggggcgacgcg	20	13	0	0	rs61742608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:18766123C>T	ENST00000359846.2	-	5	637	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R127Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R187Q|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R187Q	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	187	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTCCAGCGACCGGGGCAGCTG	0.716													C|||	571	0.114018	0.267	0.1455	5008	,	,		12159	0.0615		0.0447	False		,,,				2504	0.0102				p.R204Q		Atlas-SNP	.											.	NT5C1B	72	.	0			c.G611A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1033,3319		132,769,1275	12	17	15		560,509,611,566,386,560,380	-3.9	0	2	dbSNP_129	15	397,8075		19,359,3858	no	missense,missense,missense,missense,missense,missense,missense	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	43,43,43,43,43,43,43	151,1128,5133	TT,TC,CC		4.686,23.7362,11.151	benign,benign,benign,benign,benign,benign,benign	187/611,170/594,204/628,189/613,129/651,187/603,127/551	18766123	1430,11394	2176	4236	6412	SO:0001583	missense	93034	exon5			AGCGACCGGGGCA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.560G>A	2.37:g.18766123C>T	ENSP00000352904:p.Arg187Gln	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	20	17	0.85	NM_001199087	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	223	0.1021062271062271	108	0.21951219512195122	38	0.10497237569060773	38	0.06643356643356643	39	0.051451187335092345	C	11.28	1.592744	0.28357	0.237362	0.04686	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.88818	-2.43	2.12	-3.92	0.04155	.	1.469850	0.04541	N	0.388145	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;D;P;P;B;P;B;P	0.55172	0.429;0.97;0.696;0.604;0.043;0.512;0.074;0.68	B;B;B;B;B;B;B;B	0.30495	0.035;0.116;0.033;0.035;0.003;0.073;0.003;0.073	T	0.44345	-0.9334	9	0.12103	T	0.63	-17.3016	0.7244	0.00946	0.2453:0.2471:0.3271:0.1805	.	170;204;127;170;129;127;187;187	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Q	187;129;127;187;204	ENSP00000412639:R129Q	ENSP00000305979:R127Q	R	-	2	0	NT5C1B-RDH14;NT5C1B	18629604	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.170000	0.03118	-1.076000	0.03125	-0.309000	0.09137	CGG	C|0.899;T|0.101	0.101	strong		0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18766123	C	T	18766123	3	4	22	1	0	0	0	0	1	0	0	0	10686	652	23	1	1296	1	NT5C1B	2	18766123	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8622	18766123	224433250	1223	6331										
NT5C1B	93034	hgsc.bcm.edu	37	chr2	18768850	18768850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttgaggacctcattccAggctcattcttgacaaggaa	8	10	4	2	rs16985306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:18768850A>G	ENST00000359846.2	-	2	116	c.39T>C	c.(37-39)ccT>ccC	p.P13P	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000304081.4_Silent_p.P13P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P13P|NT5C1B_ENST00000600945.1_Silent_p.P13P	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	13					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACCTCATTCCAGGCTCATTCT	0.373													G|||	1595	0.31849	0.6649	0.3199	5008	,	,		16749	0.1151		0.1998	False		,,,				2504	0.181				p.P13P		Atlas-SNP	.											.	NT5C1B	72	.	0			c.T39C						PASS	.	G	,,,,,,	2590,1816	528.9+/-372.5	756,1078,369	138	138	138		39,39,39,39,39,39,39	-6.2	0	2	dbSNP_123	138	1792,6808	732.1+/-406.8	196,1400,2704	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	952,2478,3073	GG,GA,AA		20.8372,41.2165,33.6921	,,,,,,	13/611,13/594,13/628,13/613,13/651,13/603,13/551	18768850	4382,8624	2203	4300	6503	SO:0001819	synonymous_variant	93034	exon2			CATTCCAGGCTCA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.39T>C	2.37:g.18768850A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	72	35	0.486111	NM_001199088	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																			A|0.677;G|0.323	0.323	strong		0.373	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			G	18768850	A	G	18768850	2	3	22	1	0	0	0	0	0	0	0	1	10686	175	7	3		3	NT5C1B	2	18768850	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2727	18768850	224430523	1224	6332										
TTC32	130502	hgsc.bcm.edu	37	chr2	20101487	20101487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccgggactctcgtcgctGgaggccgcgcaagcgcaccg	14	17	1	0	rs2304589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20101487G>A	ENST00000333610.3	-	1	260	c.129C>T	c.(127-129)tcC>tcT	p.S43S	TTC32_ENST00000402414.1_Silent_p.S43S|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	43										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCGTCGCTGGAGGCCGCGC	0.637													g|||	1411	0.281749	0.208	0.2305	5008	,	,		16050	0.4028		0.175	False		,,,				2504	0.4029				p.S43S		Atlas-SNP	.											.	TTC32	13	.	0			c.C129T						PASS	.	A		904,3502	349.8+/-310.5	102,700,1401	57	58	58		129	-8.4	0	2	dbSNP_100	58	1392,7208	269.4+/-288.4	127,1138,3035	no	coding-synonymous	TTC32	NM_001008237.1		229,1838,4436	AA,AG,GG		16.186,20.5175,17.6534		43/152	20101487	2296,10710	2203	4300	6503	SO:0001819	synonymous_variant	130502	exon1			GTCGCTGGAGGCC	BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"Tetratricopeptide (TTC) repeat domain containing"	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.129C>T	2.37:g.20101487G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_001008237		Silent	SNP	ENST00000333610.3	37	CCDS33151.1																																																																																			G|0.740;A|0.260	0.260	strong		0.637	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		A	20101487	G	A	20101487	2	1	22	1	0	0	0	0	0	0	0	1	16698	1335	47	2		2	TTC32	2	20101487	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1332637	20101487	223097886	1225	6333										
WDR35	57539	hgsc.bcm.edu	37	chr2	20135283	20135283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcaaggttctctaacccTtcataatcctctaacatata	4	11	3	0	rs6741091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20135283T>C	ENST00000345530.3	-	22	2644	c.2529A>G	c.(2527-2529)gaA>gaG	p.E843E	WDR35_ENST00000416055.2_Silent_p.E408E|WDR35_ENST00000281405.4_Silent_p.E832E	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	843					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTAACCCTTCATAATCCT	0.348													C|||	2558	0.510783	0.472	0.4597	5008	,	,		15149	0.623		0.4026	False		,,,				2504	0.5951				p.E843E		Atlas-SNP	.											.	WDR35	92	.	0			c.A2529G						PASS	.	C	,	1990,2416	614.2+/-392.3	473,1044,686	106	103	104		2529,2496	-4	0.2	2	dbSNP_116	104	3599,5001	625.0+/-397.7	757,2085,1458	no	coding-synonymous,coding-synonymous	WDR35	NM_001006657.1,NM_020779.3	,	1230,3129,2144	CC,CT,TT		41.8488,45.1657,42.9725	,	843/1182,832/1171	20135283	5589,7417	2203	4300	6503	SO:0001819	synonymous_variant	57539	exon22			TAACCCTTCATAA	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2529A>G	2.37:g.20135283T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	98	39	0.397959	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																			T|0.533;C|0.467	0.467	strong		0.348	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		C	20135283	T	C	20135283	2	2	22	1	0	0	0	0	0	0	0	1	17286	1606	56	3		3	WDR35	2	20135283	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33796	20135283	223064090	1226	6334										
MATN3	4148	hgsc.bcm.edu	37	chr2	20205680	20205680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgggcccgagccgccacCtcattcacctggtcctgggg	13	16	2	0	rs28401180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20205680C>T	ENST00000407540.3	-	2	677	c.615G>A	c.(613-615)gaG>gaA	p.E205E	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.E205E	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	205	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCCGCCACCTCATTCACCT	0.597													C|||	2626	0.524361	0.528	0.4625	5008	,	,		17859	0.619		0.4026	False		,,,				2504	0.591				p.E205E		Atlas-SNP	.											.	MATN3	28	.	0			c.G615A						PASS	.	C		1964,2134		494,976,579	21	25	23		615	3.5	1	2	dbSNP_125	23	3408,4988		716,1976,1506	no	coding-synonymous	MATN3	NM_002381.4		1210,2952,2085	TT,TC,CC		40.5908,47.9258,42.9966		205/487	20205680	5372,7122	2049	4198	6247	SO:0001819	synonymous_variant	4148	exon2			CGCCACCTCATTC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.615G>A	2.37:g.20205680C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	127	63	0.496063	NM_002381	B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	CCDS46226.1																																																																																			C|0.513;T|0.487	0.487	strong		0.597	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		T	20205680	C	T	20205680	2	4	22	1	0	0	0	0	0	0	0	1	9335	680	24	2		2	MATN3	2	20205680	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70397	20205680	222993693	1227	6335										
MATN3	4148	hgsc.bcm.edu	37	chr2	20205848	20205848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggtgtgattcgacccacGgcctgcttcagggactgctt	13	11	1	1	rs28598872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20205848G>A	ENST00000407540.3	-	2	509	c.447C>T	c.(445-447)gcC>gcT	p.A149A	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.A149A	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	149	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCGACCCACGGCCTGCTTCA	0.587													A|||	2628	0.52476	0.531	0.4625	5008	,	,		19853	0.619		0.4016	False		,,,				2504	0.59				p.A149A		Atlas-SNP	.											.	MATN3	28	.	0			c.C447T						PASS	.	A		2056,2156		528,1000,578	66	71	69		447	-11.7	0.1	2	dbSNP_125	69	3481,4981		723,2035,1473	no	coding-synonymous	MATN3	NM_002381.4		1251,3035,2051	AA,AG,GG		41.1368,48.8129,43.6879		149/487	20205848	5537,7137	2106	4231	6337	SO:0001819	synonymous_variant	4148	exon2			ACCCACGGCCTGC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.447C>T	2.37:g.20205848G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	139	75	0.539568	NM_002381	B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	CCDS46226.1																																																																																			G|0.508;A|0.492	0.492	strong		0.587	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		A	20205848	G	A	20205848	2	1	22	1	0	0	0	0	0	0	0	1	9335	1103	39	1		1	MATN3	2	20205848	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	20205848	222993525	1228	6336										
PUM2	23369	hgsc.bcm.edu	37	chr2	20508156	20508156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgattaccaggatagtcaaaCtgtaaggattccagaccaac	8	9	1	2	rs34057700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20508156C>T	ENST00000361078.2	-	5	730	c.708G>A	c.(706-708)caG>caA	p.Q236Q	PUM2_ENST00000403432.1_Silent_p.Q236Q|PUM2_ENST00000536417.1_Silent_p.Q180Q|PUM2_ENST00000420234.1_5'Flank|PUM2_ENST00000319801.5_Silent_p.Q236Q|PUM2_ENST00000338086.5_Silent_p.Q236Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	236	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAGTCAAACTGTAAGGATT	0.408													C|||	145	0.0289537	0.1021	0.013	5008	,	,		17612	0.0		0.001	False		,,,				2504	0.0				p.Q236Q		Atlas-SNP	.											.	PUM2	91	.	0			c.G708A						PASS	.	C		404,4002	200.8+/-224.0	18,368,1817	83	81	81		708	5.2	1	2	dbSNP_126	81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PUM2	NM_015317.1		18,370,6115	TT,TC,CC		0.0233,9.1693,3.1216		236/1065	20508156	406,12600	2203	4300	6503	SO:0001819	synonymous_variant	23369	exon5			GTCAAACTGTAAG	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.708G>A	2.37:g.20508156C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	180	85	0.472222	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37																																																																																				C|0.974;T|0.026	0.026	strong		0.408	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		T	20508156	C	T	20508156	2	4	22	1	0	0	0	0	0	0	0	1	12826	564	20	2		2	PUM2	2	20508156	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	302308	20508156	222691217	1229	6337										
HS1BP3	64342	hgsc.bcm.edu	37	chr2	20838318	20838318	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgctcctcaaaaaagtcGaaagcctcttcatcattccc	4	14	5	0	rs3796064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20838318G>A	ENST00000304031.3	-	4	526	c.501C>T	c.(499-501)ttC>ttT	p.F167F	HS1BP3_ENST00000402541.1_Silent_p.F167F	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	167							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAAAAGTCGAAAGCCTCTT	0.587													G|||	1798	0.359026	0.2292	0.3055	5008	,	,		19367	0.5565		0.2763	False		,,,				2504	0.454				p.F167F		Atlas-SNP	.											.	HS1BP3	33	.	0			c.C501T						PASS	.	G		985,3421	367.3+/-318.2	117,751,1335	155	141	146		501	-8.4	0.8	2	dbSNP_107	146	2254,6346	381.0+/-339.9	298,1658,2344	no	coding-synonymous	HS1BP3	NM_022460.3		415,2409,3679	AA,AG,GG		26.2093,22.3559,24.9039		167/393	20838318	3239,9767	2203	4300	6503	SO:0001819	synonymous_variant	64342	exon4			AAAGTCGAAAGCC		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.501C>T	2.37:g.20838318G>A		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	337	163	0.48368	NM_022460	B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	CCDS1700.1																																																																																			G|0.702;A|0.298	0.298	strong		0.587	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		A	20838318	G	A	20838318	2	1	22	1	0	0	0	0	0	0	0	1	7361	1049	37	1		1	HS1BP3	2	20838318	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	330162	20838318	222361055	1230	6338										
C2orf43	60526	hgsc.bcm.edu	37	chr2	20886706	20886706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagggagtcagcaatcatgTctgccatttcctggttaaaa	9	8	3	0	rs147773589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:20886706T>C	ENST00000237822.3	-	7	1014	c.935A>G	c.(934-936)gAc>gGc	p.D312G	C2orf43_ENST00000403006.2_Missense_Mutation_p.D182G|C2orf43_ENST00000541941.1_Missense_Mutation_p.D182G|C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.D312G|C2orf43_ENST00000435420.2_Missense_Mutation_p.D264G	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	312										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAATCATGTCTGCCATTTC	0.433													T|||	7	0.00139776	0.0053	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0				p.D312G		Atlas-SNP	.											.	C2orf43	28	.	0			c.A935G						PASS	.	T	GLY/ASP	30,4376	37.6+/-69.7	0,30,2173	159	141	147		935	-4	0	2	dbSNP_134	147	0,8600		0,0,4300	yes	missense	C2orf43	NM_021925.2	94	0,30,6473	CC,CT,TT		0.0,0.6809,0.2307	benign	312/326	20886706	30,12976	2203	4300	6503	SO:0001583	missense	60526	exon7			ATCATGTCTGCCA	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.935A>G	2.37:g.20886706T>C	ENSP00000237822:p.Asp312Gly	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	167	89	0.532934	NM_021925	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	CCDS1702.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	4.392	0.072364	0.08436	0.006809	0.0	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941	T;T;T	0.46063	0.88;1.49;0.88	5.93	-4.01	0.04045	.	2.110680	0.01630	N	0.023469	T	0.20740	0.0499	L	0.28274	0.84	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.002;0.004	B;B;B;B	0.09377	0.001;0.001;0.003;0.004	T	0.12451	-1.0547	10	0.24483	T	0.36	0.2807	7.2059	0.25907	0.0808:0.0673:0.4763:0.3756	.	270;264;312;312	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	G	182;312;312;264;182	ENSP00000384267:D182G;ENSP00000388635:D264G;ENSP00000440570:D182G	ENSP00000237822:D312G	D	-	2	0	C2orf43	20750187	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.087000	0.11215	-0.401000	0.07644	0.533000	0.62120	GAC	T|0.998;C|0.002	0.002	strong		0.433	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		C	20886706	T	C	20886706	3	2	22	1	0	0	0	0	1	0	0	0	2167	1667	58	2	46	2	C2orf43	2	20886706	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48388	20886706	222312667	1231	6339										
C2orf43	60526	hgsc.bcm.edu	37	chr2	21001192	21001192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaatgaattcctcatgcAcaggaatttcttccttgagt	6	9	2	2	rs139472393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:21001192A>G	ENST00000237822.3	-	2	111	c.32T>C	c.(31-33)gTg>gCg	p.V11A	C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000419825.2_Missense_Mutation_p.V11A|C2orf43_ENST00000440866.2_Missense_Mutation_p.V11A|C2orf43_ENST00000381090.3_Missense_Mutation_p.V11A|C2orf43_ENST00000435420.2_Missense_Mutation_p.V11A	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	11										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCATGCACAGGAATTTC	0.408													A|||	7	0.00139776	0.0053	0.0	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0				p.V11A		Atlas-SNP	.											.	C2orf43	28	.	0			c.T32C						PASS	.	A	ALA/VAL	21,4385	29.0+/-57.7	0,21,2182	82	84	84		32	5.9	1	2	dbSNP_134	84	0,8600		0,0,4300	yes	missense	C2orf43	NM_021925.2	64	0,21,6482	GG,GA,AA		0.0,0.4766,0.1615	possibly-damaging	11/326	21001192	21,12985	2203	4300	6503	SO:0001583	missense	60526	exon2			TCATGCACAGGAA	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.32T>C	2.37:g.21001192A>G	ENSP00000237822:p.Val11Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	91	34	0.373626	NM_021925	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	CCDS1702.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	16.00	2.998870	0.54147	0.004766	0.0	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000435420;ENST00000440866;ENST00000412261;ENST00000402479;ENST00000419825	.	.	.	5.94	5.94	0.96194	.	0.514514	0.19627	N	0.109780	T	0.50497	0.1619	L	0.44542	1.39	0.32473	N	0.54249	B;P;P;D;P;P	0.60575	0.349;0.852;0.952;0.988;0.852;0.852	B;B;P;P;B;B	0.49085	0.091;0.177;0.452;0.6;0.177;0.177	T	0.63567	-0.6608	9	0.62326	D	0.03	-8.1279	15.3805	0.74651	1.0:0.0:0.0:0.0	.	11;11;11;11;11;11	B4DS38;B4DRG3;B7ZAJ5;B4DWE2;Q9H6V9;B5MDU6	.;.;.;.;CB043_HUMAN;.	A	11	.	ENSP00000237822:V11A	V	-	2	0	C2orf43	20864673	0.996000	0.38824	0.992000	0.48379	0.114000	0.19823	5.670000	0.68088	2.279000	0.76181	0.459000	0.35465	GTG	A|0.999;G|0.001	0.001	strong		0.408	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		G	21001192	A	G	21001192	3	3	22	1	0	0	0	0	1	0	0	0	2167	159	6	2	969	2	C2orf43	2	21001192	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	114486	21001192	222198181	1232	6340										
APOB	338	hgsc.bcm.edu	37	chr2	21224843	21224843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcagaaattattttcttcGtcgcaatggcctggctttta	7	8	2	1	rs12713450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:21224843G>A	ENST00000233242.1	-	29	13578	c.13451C>T	c.(13450-13452)aCg>aTg	p.T4484M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4484			T -> M (in dbSNP:rs12713450).		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTTTCTTCGTCGCAATGGC	0.378													G|||	192	0.0383387	0.1263	0.0259	5008	,	,		18757	0.0		0.006	False		,,,				2504	0.001				p.T4484M		Atlas-SNP	.											APOB,NS,carcinoma,+1,1	APOB	761	1	0			c.C13451T						scavenged	.	G	MET/THR	444,3962	204.8+/-226.9	20,404,1779	85	91	89		13451	2.2	0	2	dbSNP_126	89	43,8557	28.5+/-78.6	0,43,4257	yes	missense	APOB	NM_000384.2	81	20,447,6036	AA,AG,GG		0.5,10.0772,3.7444	benign	4484/4564	21224843	487,12519	2203	4300	6503	SO:0001583	missense	338	exon29			TTCTTCGTCGCAA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13451C>T	2.37:g.21224843G>A	ENSP00000233242:p.Thr4484Met	Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	72	0.03296703296703297	60	0.12195121951219512	8	0.022099447513812154	0	0.0	4	0.005277044854881266	G	0.008	-1.930298	0.00488	0.100772	0.005	ENSG00000084674	ENST00000233242	T	0.37915	1.17	5.9	2.22	0.28083	.	0.646971	0.15282	N	0.270656	T	0.00109	0.0003	N	0.00095	-2.16	0.22552	N	0.998995	B	0.06786	0.001	B	0.04013	0.001	T	0.33085	-0.9882	10	0.28530	T	0.3	.	6.3395	0.21314	0.4718:0.0:0.5282:0.0	rs12713450;rs17240965;rs52805962;rs60161843;rs12713450	4484	P04114	APOB_HUMAN	M	4484	ENSP00000233242:T4484M	ENSP00000233242:T4484M	T	-	2	0	APOB	21078348	0.907000	0.30839	0.005000	0.12908	0.008000	0.06430	1.767000	0.38501	0.490000	0.27771	-0.312000	0.09012	ACG	G|0.968;A|0.032	0.032	strong		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21224843	G	A	21224843	3	1	22	1	0	0	0	0	1	0	0	0	785	1145	40	1	244	1	APOB	2	21224843	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	223651	21224843	221974530	1233	6341										
APOB	338	hgsc.bcm.edu	37	chr2	21231524	21231524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggggaagctggaattctGgtatgtgaaggtcaggaact	16	4	2	1	rs676210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:21231524G>A	ENST00000233242.1	-	26	8343	c.8216C>T	c.(8215-8217)cCa>cTa	p.P2739L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2739			P -> L (in dbSNP:rs676210). {ECO:0000269|PubMed:22095935, ECO:0000269|PubMed:2216805, ECO:0000269|PubMed:9490296}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAATTCTGGTATGTGAAG	0.398													G|||	1834	0.366214	0.1241	0.2493	5008	,	,		21164	0.7192		0.2177	False		,,,				2504	0.5654				p.P2739L		Atlas-SNP	.											.	APOB	761	.	0			c.C8216T	GRCh37	CM980093	APOB	M	rs676210	PASS	.	G	LEU/PRO	694,3712	289.5+/-280.5	52,590,1561	185	186	186		8216	5.2	1	2	dbSNP_83	186	1862,6738	331.8+/-319.8	227,1408,2665	yes	missense	APOB	NM_000384.2	98	279,1998,4226	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	21.6512,15.7512,19.6525	probably-damaging	2739/4564	21231524	2556,10450	2203	4300	6503	SO:0001583	missense	338	exon26			AATTCTGGTATGT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8216C>T	2.37:g.21231524G>A	ENSP00000233242:p.Pro2739Leu	Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	310	170	0.548387	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	737	0.3374542124542125	77	0.1565040650406504	79	0.21823204419889503	406	0.7097902097902098	175	0.23087071240105542	G	24.9	4.580663	0.86748	0.157512	0.216512	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01185	5.21	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000061	T	0.00012	0.0000	M	0.73598	2.24	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	T	0.08597	-1.0714	9	0.87932	D	0	.	18.7715	0.91893	0.0:0.0:1.0:0.0	rs676210;rs17240903;rs52830519;rs60113879;rs676210	2739	P04114	APOB_HUMAN	L	2739	ENSP00000233242:P2739L	ENSP00000233242:P2739L	P	-	2	0	APOB	21085029	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.803000	0.99136	2.437000	0.82529	0.561000	0.74099	CCA	G|0.731;A|0.269	0.269	strong		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21231524	G	A	21231524	3	1	22	1	0	0	0	0	1	0	0	0	785	1348	47	2	5491	2	APOB	2	21231524	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6681	21231524	221967849	1234	6342										
APOB	338	hgsc.bcm.edu	37	chr2	21258523	21258523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacatgcttcctcttagCgtccagtgtgtactgacagg	10	12	1	1	rs61741625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:21258523C>T	ENST00000233242.1	-	7	878	c.751G>A	c.(751-753)Gct>Act	p.A251T	APOB_ENST00000399256.4_Missense_Mutation_p.A251T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	251	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCTTAGCGTCCAGTGTG	0.502													C|||	13	0.00259585	0.0098	0.0	5008	,	,		21477	0.0		0.0	False		,,,				2504	0.0				p.A251T		Atlas-SNP	.											.	APOB	761	.	0			c.G751A						PASS	.	C	THR/ALA	34,4372	38.4+/-70.7	0,34,2169	130	105	114		751	-8.5	0	2	dbSNP_129	114	0,8600		0,0,4300	yes	missense	APOB	NM_000384.2	58	0,34,6469	TT,TC,CC		0.0,0.7717,0.2614	benign	251/4564	21258523	34,12972	2203	4300	6503	SO:0001583	missense	338	exon7			TCTTAGCGTCCAG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.751G>A	2.37:g.21258523C>T	ENSP00000233242:p.Ala251Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	106	58	0.54717	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	13.65	2.299459	0.40694	0.007717	0.0	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.04809	3.55;3.55	5.73	-8.49	0.00931	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	1.266020	0.05424	N	0.544746	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	P	0.39520	0.676	B	0.32289	0.143	T	0.38628	-0.9652	10	0.21014	T	0.42	.	4.2167	0.10539	0.3063:0.3153:0.3062:0.0722	.	251	P04114	APOB_HUMAN	T	251	ENSP00000233242:A251T;ENSP00000382200:A251T	ENSP00000233242:A251T	A	-	1	0	APOB	21112028	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.261000	0.02855	-1.679000	0.01452	-1.193000	0.01689	GCT	C|0.997;T|0.003	0.003	strong		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21258523	C	T	21258523	3	4	22	1	0	0	0	0	1	0	0	0	785	768	27	1	13032	1	APOB	2	21258523	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26999	21258523	221940850	1235	6343										
ATAD2B	54454	hgsc.bcm.edu	37	chr2	23980608	23980608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcctggaggtctgctccGggtttaaggaactgctgctg	13	10	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:23980608G>A	ENST00000238789.5	-	25	4101	c.3758C>T	c.(3757-3759)cCg>cTg	p.P1253L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1253						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.P1253Q(2)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTGCTCCGGGTTTAAGGA	0.438																																					p.P1253L		Atlas-SNP	.											ATAD2B_ENST00000238789,NS,carcinoma,+1,1	ATAD2B	110	1	2	Substitution - Missense(2)	lung(1)|kidney(1)	c.C3758T						scavenged	.						86	83	84					2																	23980608		1880	4100	5980	SO:0001583	missense	54454	exon25			TGCTCCGGGTTTA	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3758C>T	2.37:g.23980608G>A	ENSP00000238789:p.Pro1253Leu	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	187	3	0.0160428	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.185|9.185	1.024551|1.024551	0.19433|0.19433	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.91295|.	-2.82|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.653298|.	0.15072|.	N|.	0.282139|.	T|T	0.25827|0.25827	0.0629|0.0629	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.29862|.	0.168;0.259|.	B;B|.	0.17098|.	0.008;0.017|.	T|T	0.11690|0.11690	-1.0577|-1.0577	10|5	0.40728|.	T|.	0.16|.	.|.	8.2424|8.2424	0.31669|0.31669	0.0806:0.0:0.7621:0.1572|0.0806:0.0:0.7621:0.1572	.|.	1253;1248|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	L|W	1253;421|529	ENSP00000238789:P1253L|.	ENSP00000238789:P1253L|.	P|R	-|-	2|1	0|2	ATAD2B|ATAD2B	23834112|23834112	0.998000|0.998000	0.40836|0.40836	0.612000|0.612000	0.29024|0.29024	0.459000|0.459000	0.32528|0.32528	3.389000|3.389000	0.52516|0.52516	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CCG|CGG	.	.	none		0.438	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		A	23980608	G	A	23980608	3	1	22	1	0	0	0	0	1	0	0	0	1072	1116	39	1	634	1	ATAD2B	2	23980608	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2722085	23980608	219218765	1236	6344										
C2orf44	80304	hgsc.bcm.edu	37	chr2	24260862	24260862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacagatactagacagaggActctggatttctttaataag	8	7	3	3	rs115270382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:24260862A>G	ENST00000295148.4	-	2	1560	c.1503T>C	c.(1501-1503)agT>agC	p.S501S	C2orf44_ENST00000406895.3_Silent_p.S501S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	501									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGACAGAGGACTCTGGATTT	0.488			T	ALK	NSCLC								A|||	27	0.00539137	0.0204	0.0	5008	,	,		17626	0.0		0.0	False		,,,				2504	0.0				p.S501S		Atlas-SNP	.		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	.	C2orf44	56	.	0			c.T1503C						PASS	.	A	,	136,4270	94.4+/-133.1	2,132,2069	65	69	68		1503,1503	-3.5	0.1	2	dbSNP_132	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C2orf44	NM_001142319.1,NM_025203.2	,	2,133,6368	GG,GA,AA		0.0116,3.0867,1.0534	,	501/623,501/722	24260862	137,12869	2203	4300	6503	SO:0001819	synonymous_variant	80304	exon2			CAGAGGACTCTGG	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1503T>C	2.37:g.24260862A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	156	72	0.461538	NM_025203	D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																			A|0.992;G|0.008	0.008	strong		0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		G	24260862	A	G	24260862	2	3	22	1	0	0	0	0	0	0	0	1	2168	272	10	2		2	C2orf44	2	24260862	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	280254	24260862	218938511	1237	6345										
PFN4	375189	hgsc.bcm.edu	37	chr2	24342505	24342505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccctcagtgtaagttgcTaccagaagatacagatgggt	11	8	1	3	rs1056122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:24342505T>C	ENST00000313213.4	-	4	674	c.303A>G	c.(301-303)gtA>gtG	p.V101V	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	101					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAAGTTGCTACCAGAAGAT	0.453													C|||	1387	0.276957	0.2133	0.2075	5008	,	,		18510	0.1528		0.3738	False		,,,				2504	0.4407				p.V101V		Atlas-SNP	.											.	PFN4	16	.	0			c.A303G						PASS	.	C		1091,3315	721.9+/-409.2	129,833,1241	137	124	129		303	5.4	1	2	dbSNP_86	129	3051,5549	661.9+/-401.9	537,1977,1786	no	coding-synonymous	PFN4	NM_199346.1		666,2810,3027	CC,CT,TT		35.4767,24.7617,31.8468		101/130	24342505	4142,8864	2203	4300	6503	SO:0001819	synonymous_variant	375189	exon4			AGTTGCTACCAGA	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.303A>G	2.37:g.24342505T>C		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	45	23	0.511111	NM_199346	Q53TL9	Silent	SNP	ENST00000313213.4	37	CCDS1709.1																																																																																			T|0.709;C|0.291	0.291	strong		0.453	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		C	24342505	T	C	24342505	2	2	22	1	0	0	0	0	0	0	0	1	11770	1509	53	3		3	PFN4	2	24342505	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	81643	24342505	218856868	1238	6346										
PFN4	375189	hgsc.bcm.edu	37	chr2	24344060	24344060	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcataaagagaatattcatcTgcccggacacatctgtaatc	7	10	3	1	rs33913065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:24344060T>G	ENST00000313213.4	-	3	599	c.228A>C	c.(226-228)gcA>gcC	p.A76A	PFN4_ENST00000465360.1_5'UTR|FAM228B_ENST00000420135.2_5'Flank|FAM228B_ENST00000407625.1_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	76					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATATTCATCTGCCCGGACAC	0.423													T|||	742	0.148163	0.084	0.1282	5008	,	,		19302	0.1071		0.2177	False		,,,				2504	0.2198				p.A76A		Atlas-SNP	.											.	PFN4	16	.	0			c.A228C						PASS	.	T		533,3873	239.6+/-250.7	30,473,1700	138	140	139		228	-1	1	2	dbSNP_126	139	1665,6935	306.5+/-307.9	157,1351,2792	no	coding-synonymous	PFN4	NM_199346.1		187,1824,4492	GG,GT,TT		19.3605,12.0971,16.8999		76/130	24344060	2198,10808	2203	4300	6503	SO:0001819	synonymous_variant	375189	exon3			TTCATCTGCCCGG	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.228A>C	2.37:g.24344060T>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	121	62	0.512397	NM_199346	Q53TL9	Silent	SNP	ENST00000313213.4	37	CCDS1709.1																																																																																			T|0.834;G|0.166	0.166	strong		0.423	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		G	24344060	T	G	24344060	2	3	22	1	0	0	0	0	0	0	0	1	11770	1567	55	5		5	PFN4	2	24344060	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1555	24344060	218855313	1239	6347										
ITSN2	50618	hgsc.bcm.edu	37	chr2	24498674	24498674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacgtttgatcttataaagCtgttcaagggctaactgctg	9	8	3	1	rs77507357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:24498674C>T	ENST00000355123.4	-	18	2432	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	ITSN2_ENST00000361999.3_Silent_p.Q636Q|SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000406921.3_Silent_p.Q663Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	663					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTATAAAGCTGTTCAAGGG	0.338													T|||	40	0.00798722	0.0303	0.0	5008	,	,		17795	0.0		0.0	False		,,,				2504	0.0				p.Q663Q		Atlas-SNP	.											.	ITSN2	224	.	0			c.G1989A						PASS	.	T	,,	143,4263	812.9+/-416.1	4,135,2064	147	140	142		1989,1908,1989	-4.5	0.9	2	dbSNP_132	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITSN2	NM_006277.2,NM_019595.3,NM_147152.2	,,	4,135,6364	TT,TC,CC		0.0,3.2456,1.0995	,,	663/1698,636/1671,663/1250	24498674	143,12863	2203	4300	6503	SO:0001819	synonymous_variant	50618	exon18			ATAAAGCTGTTCA	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1989G>A	2.37:g.24498674C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	201	104	0.517413	NM_147152	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																			C|0.989;T|0.011	0.011	strong		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		T	24498674	C	T	24498674	2	4	22	1	0	0	0	0	0	0	0	1	7927	796	28	2		2	ITSN2	2	24498674	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	154614	24498674	218700699	1240	6348										
ITSN2	50618	hgsc.bcm.edu	37	chr2	24524958	24524958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagctgtccatcaccatcaaCgtcagccagagtcctaaaga	7	13	3	2	rs7603997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:24524958C>T	ENST00000355123.4	-	10	1314	c.871G>A	c.(871-873)Gtt>Att	p.V291I	ITSN2_ENST00000361999.3_Missense_Mutation_p.V291I|ITSN2_ENST00000406921.3_Missense_Mutation_p.V291I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	291	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.		V -> I (in dbSNP:rs7603997). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCATCAACGTCAGCCAGA	0.353													T|||	1463	0.292133	0.388	0.2075	5008	,	,		15878	0.1915		0.3509	False		,,,				2504	0.2658				p.V291I		Atlas-SNP	.											.	ITSN2	224	.	0			c.G871A						PASS	.	T	ILE/VAL,ILE/VAL,ILE/VAL	1863,2543	632.7+/-395.9	407,1049,747	87	80	83		871,871,871	2.1	1	2	dbSNP_116	83	2841,5759	673.9+/-403.1	462,1917,1921	yes	missense,missense,missense	ITSN2	NM_006277.2,NM_019595.3,NM_147152.2	29,29,29	869,2966,2668	TT,TC,CC		33.0349,42.2833,36.1679	benign,benign,benign	291/1698,291/1671,291/1250	24524958	4704,8302	2203	4300	6503	SO:0001583	missense	50618	exon10			CATCAACGTCAGC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.871G>A	2.37:g.24524958C>T	ENSP00000347244:p.Val291Ile	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	69	28	0.405797	NM_147152	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	664	0.304029304029304	200	0.4065040650406504	84	0.23204419889502761	111	0.19405594405594406	269	0.3548812664907652	T	3.130	-0.178539	0.06380	0.422833	0.330349	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.44	2.11	0.27256	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.37483	N	0.002070	T	0.00012	0.0000	N	0.04508	-0.205	0.52501	P	4.899999999996574E-5	P;P;P;P	0.51791	0.911;0.911;0.948;0.622	P;P;P;B	0.48952	0.496;0.496;0.596;0.275	T	0.11867	-1.0570	9	0.02654	T	1	.	9.1297	0.36837	0.0:0.2282:0.0:0.7718	rs7603997;rs17845626;rs17858557;rs52793399;rs59754072;rs7603997	291;291;291;291	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	I	291;291;291;315;291;316	ENSP00000354561:V291I;ENSP00000347244:V291I;ENSP00000370250:V291I;ENSP00000384499:V291I;ENSP00000391224:V316I	ENSP00000347244:V291I	V	-	1	0	ITSN2	24378462	0.991000	0.36638	0.999000	0.59377	0.973000	0.67179	0.343000	0.19944	0.338000	0.23692	-0.524000	0.04348	GTT	C|0.652;N|0.000	.	strong		0.353	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		T	24524958	C	T	24524958	3	4	22	1	0	0	0	0	1	0	0	0	7927	536	19	1	4397	1	ITSN2	2	24524958	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26284	24524958	218674415	1241	6349										
ADCY3	109	hgsc.bcm.edu	37	chr2	25046090	25046090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactcacagagtcaaaatcTgagatgatttcattgaggaa	9	7	4	4	rs1127568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:25046090T>C	ENST00000260600.5	-	17	3722	c.2871A>G	c.(2869-2871)tcA>tcG	p.S957S	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.S544S	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	957					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGTCAAAATCTGAGATGATTT	0.502													C|||	3462	0.691294	0.5295	0.7695	5008	,	,		20373	0.879		0.668	False		,,,				2504	0.6851				p.S957S		Atlas-SNP	.											.	ADCY3	114	.	0			c.A2871G						PASS	.	C		2405,2001	561.5+/-380.7	642,1121,440	102	87	92		2871	-8.2	0.7	2	dbSNP_86	92	5729,2871	450.6+/-362.4	1927,1875,498	no	coding-synonymous	ADCY3	NM_004036.3		2569,2996,938	CC,CT,TT		33.3837,45.4153,37.4596		957/1145	25046090	8134,4872	2203	4300	6503	SO:0001819	synonymous_variant	109	exon17			AAAATCTGAGATG	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2871A>G	2.37:g.25046090T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	47	0.54023	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			T|0.344;C|0.656	0.656	strong		0.502	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			C	25046090	T	C	25046090	2	2	22	1	0	0	0	0	0	0	0	1	295	1567	55	3		3	ADCY3	2	25046090	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	521132	25046090	218153283	1242	6350										
ADCY3	109	hgsc.bcm.edu	37	chr2	25064193	25064193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgtggtcctcccggtagtcGggcaagccgcagatgcagta	15	12	0	1	rs2241759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:25064193G>A	ENST00000260600.5	-	5	1982	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	ADCY3_ENST00000405392.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	377					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCGGTAGTCGGGCAAGCCGC	0.632													A|||	2557	0.510583	0.3555	0.4438	5008	,	,		17167	0.7421		0.4791	False		,,,				2504	0.5613				p.P377P		Atlas-SNP	.											.	ADCY3	114	.	0			c.C1131T						PASS	.	A		1609,2793		304,1001,896	36	36	36		1131	-7.6	0.9	2	dbSNP_98	36	4197,4399		1066,2065,1167	yes	coding-synonymous	ADCY3	NM_004036.3		1370,3066,2063	AA,AG,GG		48.825,36.5516,44.6684		377/1145	25064193	5806,7192	2201	4298	6499	SO:0001819	synonymous_variant	109	exon5			GTAGTCGGGCAAG	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1131C>T	2.37:g.25064193G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			G|0.520;A|0.480	0.480	strong		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25064193	G	A	25064193	2	1	22	1	0	0	0	0	0	0	0	1	295	1103	39	1		1	ADCY3	2	25064193	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18103	25064193	218135180	1243	6351										
ADCY3	109	hgsc.bcm.edu	37	chr2	25141434	25141434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatgagcagccacagcacGtagggcagcactctgcgggt	14	11	1	1	rs61732745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:25141434G>A	ENST00000260600.5	-	1	1274	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	141					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCACAGCACGTAGGGCAGCA	0.622													G|||	506	0.101038	0.2179	0.0865	5008	,	,		20124	0.0446		0.0835	False		,,,				2504	0.0297				p.Y141Y		Atlas-SNP	.											.	ADCY3	114	.	0			c.C423T						PASS	.	G		912,3494	353.8+/-312.3	101,710,1392	77	84	82		423	2.6	1	2	dbSNP_129	82	782,7818	184.2+/-232.2	38,706,3556	no	coding-synonymous	ADCY3	NM_004036.3		139,1416,4948	AA,AG,GG		9.093,20.699,13.0248		141/1145	25141434	1694,11312	2203	4300	6503	SO:0001819	synonymous_variant	109	exon1			CAGCACGTAGGGC	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.423C>T	2.37:g.25141434G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	169	73	0.431953	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			G|0.885;A|0.115	0.115	strong		0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25141434	G	A	25141434	2	1	22	1	0	0	0	0	0	0	0	1	295	1140	40	1		1	ADCY3	2	25141434	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77241	25141434	218057939	1244	6352										
DNMT3A	1788	hgsc.bcm.edu	37	chr2	25469502	25469502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttaccttctggtggctcCaggcccttagggccagaagg	12	12	1	1	rs2276598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:25469502C>T	ENST00000264709.3	-	10	1603	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	DNMT3A_ENST00000402667.1_Silent_p.L199L|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Silent_p.L422L|DNMT3A_ENST00000380746.4_Silent_p.L233L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	422					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCTCCAGGCCCTTAG	0.622			"Mis, F, N, S"		AML								c|||	1121	0.223842	0.3162	0.1556	5008	,	,		18289	0.3204		0.1541	False		,,,				2504	0.1196				p.L422L		Atlas-SNP	.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A	1807	.	0			c.G1266A						PASS	.	T	,,	1301,3097		189,923,1087	37	38	38		1266,699,1266	2.4	1	2	dbSNP_100	38	1355,7207		110,1135,3036	no	coding-synonymous,coding-synonymous,coding-synonymous	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	,,	299,2058,4123	TT,TC,CC		15.8257,29.5816,20.4938	,,	422/913,233/724,422/913	25469502	2656,10304	2199	4281	6480	SO:0001819	synonymous_variant	1788	exon10			TGGCTCCAGGCCC		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1266G>A	2.37:g.25469502C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																			C|0.792;T|0.208	0.208	strong		0.622	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		T	25469502	C	T	25469502	2	4	22	1	0	0	0	0	0	0	0	1	4676	581	21	2		2	DNMT3A	2	25469502	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	328068	25469502	217729871	1245	6353										
KIF3C	3797	hgsc.bcm.edu	37	chr2	26177198	26177198	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcctgccgcacgcggatAtactcatcatgctggtcctg	11	13	2	0	rs17047211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26177198A>G	ENST00000264712.3	-	4	2406	c.1827T>C	c.(1825-1827)taT>taC	p.Y609Y	KIF3C_ENST00000405914.1_Silent_p.Y609Y|KIF3C_ENST00000496378.1_5'Flank	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	609					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACGCGGATATACTCATCAT	0.627													G|||	703	0.140375	0.2685	0.121	5008	,	,		17832	0.001		0.1481	False		,,,				2504	0.1166				p.Y609Y		Atlas-SNP	.											.	KIF3C	79	.	0			c.T1827C						PASS	.	G		1108,3298	718.5+/-408.8	137,834,1232	91	70	77		1827	4.1	1	2	dbSNP_123	77	1347,7253	756.2+/-407.5	112,1123,3065	no	coding-synonymous	KIF3C	NM_002254.6		249,1957,4297	GG,GA,AA		15.6628,25.1475,18.8759		609/794	26177198	2455,10551	2203	4300	6503	SO:0001819	synonymous_variant	3797	exon4			GCGGATATACTCA		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1827T>C	2.37:g.26177198A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	40	0.506329	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	CCDS1719.1																																																																																			A|0.828;G|0.172	0.172	strong		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			G	26177198	A	G	26177198	2	3	22	1	0	0	0	0	0	0	0	1	8302	456	16	2		2	KIF3C	2	26177198	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	707696	26177198	217022175	1246	6354										
HADHB	3032	hgsc.bcm.edu	37	chr2	26505745	26505745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcaatgttaatcatggcGgaggaaaaggctctggccat	12	8	3	0	rs7572240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26505745G>A	ENST00000317799.5	+	11	1070	c.966G>A	c.(964-966)gcG>gcA	p.A322A	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Silent_p.A199A|HADHB_ENST00000545822.1_Silent_p.A300A|HADHB_ENST00000537713.1_Silent_p.A307A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	322					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATCATGGCGGAGGAAAAGG	0.388													g|||	101	0.0201677	0.0726	0.0043	5008	,	,		18252	0.0		0.002	False		,,,				2504	0.0				p.A322A		Atlas-SNP	.											.	HADHB	50	.	0			c.G966A						PASS	.	G		268,4138	151.0+/-185.0	6,256,1941	91	87	89		966	-8.4	0.7	2	dbSNP_116	89	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	HADHB	NM_000183.2		6,260,6237	AA,AG,GG		0.0465,6.0826,2.0913		322/475	26505745	272,12734	2203	4300	6503	SO:0001819	synonymous_variant	3032	exon11			CATGGCGGAGGAA		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.966G>A	2.37:g.26505745G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	CCDS1722.1																																																																																			G|0.982;A|0.018	0.018	strong		0.388	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		A	26505745	G	A	26505745	2	1	22	1	0	0	0	0	0	0	0	1	6944	1103	39	1		1	HADHB	2	26505745	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	328547	26505745	216693628	1247	6355										
GPR113	165082	hgsc.bcm.edu	37	chr2	26536299	26536299	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgcagctgctgtggacCggcccccagactccgtcagc	12	16	2	1	rs11886746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26536299C>G	ENST00000311519.1	-	9	1418	c.1419G>C	c.(1417-1419)ccG>ccC	p.P473P	GPR113_ENST00000541401.1_Silent_p.P76P|GPR113_ENST00000333478.6_Silent_p.P274P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.P404P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	473					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGGACCGGCCCCCAGA	0.647													g|||	2002	0.39976	0.4856	0.3228	5008	,	,		18410	0.3353		0.328	False		,,,				2504	0.4785				p.P473P		Atlas-SNP	.											.	GPR113	134	.	0			c.G1419C						PASS	.	A	,,	2072,2334		494,1084,625	31	30	30		1419,1212,822	-0.3	0	2	dbSNP_120	30	2780,5820		446,1888,1966	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	,,	940,2972,2591	GG,GC,CC		32.3256,47.0268,37.3059	,,	473/1080,404/998,274/874	26536299	4852,8154	2203	4300	6503	SO:0001819	synonymous_variant	165082	exon9			GTGGACCGGCCCC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1419G>C	2.37:g.26536299C>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	119	54	0.453782	NM_001145168	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																			C|0.631;G|0.369	0.369	strong		0.647	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		G	26536299	C	G	26536299	2	3	22	1	0	0	0	0	0	0	0	1	6630	639	23	4		4	GPR113	2	26536299	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30554	26536299	216663074	1248	6356										
GPR113	165082	hgsc.bcm.edu	37	chr2	26540951	26540951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttgggccatcggccaaaGctagaagatagggggatggg	16	9	0	2	rs116141676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26540951G>A	ENST00000311519.1	-	2	218	c.219C>T	c.(217-219)agC>agT	p.S73S	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000421160.2_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	73					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGGCCAAAGCTAGAAGATA	0.582													G|||	83	0.0165735	0.0605	0.0043	5008	,	,		19300	0.0		0.0	False		,,,				2504	0.0				p.S73S		Atlas-SNP	.											.	GPR113	134	.	0			c.C219T						PASS	.	G	,,	66,1318		3,60,629	58	64	62		219,,	0	0	2	dbSNP_132	62	0,3182		0,0,1591	no	coding-synonymous,intron,intron	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	,,	3,60,2220	AA,AG,GG		0.0,4.7688,1.4455	,,	73/1080,,	26540951	66,4500	692	1591	2283	SO:0001819	synonymous_variant	165082	exon2			GCCAAAGCTAGAA	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.219C>T	2.37:g.26540951G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	145	59	0.406897	NM_001145168	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																			G|0.986;A|0.014	0.014	strong		0.582	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26540951	G	A	26540951	2	1	22	1	0	0	0	0	0	0	0	1	6630	962	34	2		2	GPR113	2	26540951	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4652	26540951	216658422	1249	6357										
C2orf39	92749	hgsc.bcm.edu	37	chr2	26678040	26678040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagctgctgctggaaaacaGttctctggagcagcagaaca	11	10	1	1	rs3172008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26678040G>T	ENST00000288710.2	+	16	2179	c.2105G>T	c.(2104-2106)aGt>aTt	p.S702I		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	702			S -> I (in dbSNP:rs3172008).		axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CTGGAAAACAGTTCTCTGGAG	0.582													G|||	700	0.139776	0.3548	0.0793	5008	,	,		18349	0.0823		0.0467	False		,,,				2504	0.047				p.S702I		Atlas-SNP	.											CCDC164,NS,carcinoma,+1,2	CCDC164	84	2	0			c.G2105T						PASS	.	G	ILE/SER	1299,3107	437.2+/-344.9	199,901,1103	86	99	94		2105	-4.4	0	2	dbSNP_105	94	393,8207	125.5+/-184.1	1,391,3908	yes	missense	CCDC164	NM_145038.2	142	200,1292,5011	TT,TG,GG		4.5698,29.4825,13.0094	benign	702/741	26678040	1692,11314	2203	4300	6503	SO:0001583	missense	92749	exon16			AAAACAGTTCTCT	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.2105G>T	2.37:g.26678040G>T	ENSP00000288710:p.Ser702Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	128	52	0.40625	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	256	0.11721611721611722	165	0.3353658536585366	26	0.0718232044198895	35	0.06118881118881119	30	0.0395778364116095	G	11.67	1.706520	0.30232	0.294825	0.045698	ENSG00000157856	ENST00000288710	T	0.46819	0.86	5.38	-4.36	0.03645	.	2.656320	0.00907	N	0.002436	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.26002	0.139	B	0.24006	0.05	T	0.24799	-1.0150	9	0.49607	T	0.09	8.668	8.1501	0.31134	0.3804:0.0:0.5015:0.1181	rs3172008;rs17421703;rs58541120;rs3172008	702	Q96MC2	CC164_HUMAN	I	702	ENSP00000288710:S702I	ENSP00000288710:S702I	S	+	2	0	CCDC164	26531544	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.540000	0.02200	-1.149000	0.02843	-0.345000	0.07892	AGT	G|0.870;N|0.001	.	strong		0.582	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26678040	G	T	26678040	3	4	22	1	0	0	0	0	1	0	0	0	2164	1029	36	4	2167	4	C2orf39	2	26678040	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	137089	26678040	216521333	1250	6358										
OTOF	9381	hgsc.bcm.edu	37	chr2	26687761	26687761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgtcctcaatctcagaggGcccagtgaagacgcggttgg	13	12	2	3	rs17005371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26687761G>A	ENST00000272371.2	-	39	5062	c.4936C>T	c.(4936-4938)Ccc>Tcc	p.P1646S	OTOF_ENST00000339598.3_Missense_Mutation_p.P879S|OTOF_ENST00000402415.3_Missense_Mutation_p.P956S|OTOF_ENST00000338581.6_Missense_Mutation_p.P879S|OTOF_ENST00000403946.3_Missense_Mutation_p.P1646S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1646			P -> S (in dbSNP:rs17005371). {ECO:0000269|PubMed:16371502}.		membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCAGAGGGCCCAGTGAAG	0.647													G|||	800	0.159744	0.5386	0.0764	5008	,	,		17381	0.0		0.0149	False		,,,				2504	0.0204				p.P1646S	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											.	OTOF	524	.	0			c.C4936T						PASS	.	G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1949,2457	543.7+/-376.3	441,1067,695	50	58	56	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2635,4936,2866,2635	4.9	1	2	dbSNP_123	56	110,8490	57.9+/-119.4	0,110,4190	yes	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	74,74,74,74	441,1177,4885	AA,AG,GG		1.2791,44.2351,15.8312	benign,benign,benign,benign	879/1231,1646/1998,956/1308,879/1231	26687761	2059,10947	2203	4300	6503	SO:0001583	missense	9381	exon39			CAGAGGGCCCAGT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4936C>T	2.37:g.26687761G>A	ENSP00000272371:p.Pro1646Ser	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	224	109	0.486607	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	288	0.13186813186813187	255	0.5182926829268293	26	0.0718232044198895	0	0.0	7	0.009234828496042216	G	12.47	1.949107	0.34377	0.442351	0.012791	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.38649	1.16	0.09310	P	0.99999858138	B;B;B;B	0.24368	0.102;0.041;0.035;0.01	B;B;B;B	0.24394	0.03;0.053;0.027;0.022	T	0.35375	-0.9791	9	0.08599	T	0.76	-25.2998	17.7125	0.88326	0.0:0.0:1.0:0.0	rs17005371;rs60119788;rs17005371	1646;879;956;879	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	879;879;956;1646;1646	ENSP00000345137:P879S;ENSP00000344521:P879S;ENSP00000383906:P956S;ENSP00000272371:P1646S;ENSP00000385255:P1646S	ENSP00000272371:P1646S	P	-	1	0	OTOF	26541265	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	6.504000	0.73704	2.260000	0.74910	0.561000	0.74099	CCC	G|0.841;A|0.159	0.159	strong		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26687761	G	A	26687761	3	1	22	1	0	0	0	0	1	0	0	0	11303	1203	42	2	1274	2	OTOF	2	26687761	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9721	26687761	216511612	1251	6359										
OTOF	9381	hgsc.bcm.edu	37	chr2	26688662	26688662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcccagtcatacacagcCaccgtcagcatggattccat	8	14	2	0	rs2272071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26688662C>T	ENST00000272371.2	-	38	4803	c.4677G>A	c.(4675-4677)gtG>gtA	p.V1559V	OTOF_ENST00000338581.6_Silent_p.V792V|OTOF_ENST00000403946.3_Silent_p.V1559V|OTOF_ENST00000402415.3_Silent_p.V869V|OTOF_ENST00000339598.3_Silent_p.V792V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1559	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.V1559V(1)|p.V792V(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATACACAGCCACCGTCAGCA	0.582													C|||	309	0.0617013	0.0681	0.0375	5008	,	,		18878	0.126		0.0159	False		,,,				2504	0.0511				p.V1559V	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											OTOF_ENST00000361394,NS,carcinoma,0,2	OTOF	524	2	2	Substitution - coding silent(2)	stomach(2)	c.G4677A						PASS	.	C	,,,	290,4116	160.3+/-192.7	15,260,1928	118	100	106	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2376,4677,2607,2376	1.4	1	2	dbSNP_100	106	106,8494	57.2+/-118.5	1,104,4195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	16,364,6123	TT,TC,CC		1.2326,6.5819,3.0447	,,,	792/1231,1559/1998,869/1308,792/1231	26688662	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	9381	exon38			CACAGCCACCGTC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4677G>A	2.37:g.26688662C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	194	104	0.536082	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			C|0.951;T|0.049	0.049	strong		0.582	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26688662	C	T	26688662	2	4	22	1	0	0	0	0	0	0	0	1	11303	581	21	2		2	OTOF	2	26688662	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	901	26688662	216510711	1252	6360										
OTOF	9381	hgsc.bcm.edu	37	chr2	26699033	26699033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgggtgggaaggcatgcagGcccaggccctgggctgcctt	17	12	0	0	rs73920285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26699033G>A	ENST00000272371.2	-	23	2955	c.2829C>T	c.(2827-2829)ggC>ggT	p.G943G	OTOF_ENST00000339598.3_Silent_p.G196G|OTOF_ENST00000402415.3_Silent_p.G253G|OTOF_ENST00000338581.6_Silent_p.G196G|OTOF_ENST00000403946.3_Silent_p.G943G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	943					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCATGCAGGCCCAGGCCCT	0.667													G|||	218	0.0435304	0.1566	0.013	5008	,	,		13310	0.0		0.002	False		,,,				2504	0.0				p.G943G	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											OTOF_ENST00000402415,NS,carcinoma,0,3	OTOF	524	3	0			c.C2829T						PASS	.	G	,,,	542,3860	235.2+/-247.8	27,488,1686	34	35	35	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	588,2829,759,588	3.6	1	2	dbSNP_130	35	3,8593	2.2+/-6.3	0,3,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	27,491,5981	AA,AG,GG		0.0349,12.3126,4.193	,,,	196/1231,943/1998,253/1308,196/1231	26699033	545,12453	2201	4298	6499	SO:0001819	synonymous_variant	9381	exon23			ATGCAGGCCCAGG	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2829C>T	2.37:g.26699033G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			G|0.953;A|0.047	0.047	strong		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26699033	G	A	26699033	2	1	22	1	0	0	0	0	0	0	0	1	11303	1190	42	2		2	OTOF	2	26699033	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10371	26699033	216500340	1253	6361										
OTOF	9381	hgsc.bcm.edu	37	chr2	26699126	26699126	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggcccagccacaggtaCagctccaccttggcctgcac	10	17	0	1	rs4335905|rs397515595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26699126C>G	ENST00000272371.2	-	23	2862	c.2736G>C	c.(2734-2736)ctG>ctC	p.L912L	OTOF_ENST00000339598.3_Silent_p.L165L|OTOF_ENST00000402415.3_Silent_p.L222L|OTOF_ENST00000338581.6_Silent_p.L165L|OTOF_ENST00000403946.3_Silent_p.L912L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	912					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.L165L(1)|p.L912L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACAGGTACAGCTCCACCT	0.687													G|||	3545	0.707867	0.7821	0.6657	5008	,	,		7877	0.9831		0.4722	False		,,,				2504	0.5961				p.L912L	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											OTOF_ENST00000361394,NS,lymphoid_neoplasm,0,2	OTOF	524	2	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	c.G2736C	GRCh37	CI084299	OTOF	I	rs4335905	PASS	.	G	,,,	3117,1283	406.2+/-333.8	1107,903,190	41	38	39	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	495,2736,666,495	-4.4	0.7	2	dbSNP_111	39	3765,4825	588.4+/-392.4	806,2153,1336	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	1913,3056,1526	GG,GC,CC		43.83,29.1591,47.0208	,,,	165/1231,912/1998,222/1308,165/1231	26699126	6882,6108	2200	4295	6495	SO:0001819	synonymous_variant	9381	exon23			CAGGTACAGCTCC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2736G>C	2.37:g.26699126C>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	81	80	0.987654	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			C|0.421;G|0.579	0.579	strong		0.687	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			G	26699126	C	G	26699126	2	3	22	1	0	0	0	0	0	0	0	1	11303	465	17	4		4	OTOF	2	26699126	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93	26699126	216500247	1254	6362										
OTOF	9381	hgsc.bcm.edu	37	chr2	26699159	26699159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcactgtccagcctgcCgagccgaagccccgcttccc	10	20	0	0	rs4997760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26699159C>T	ENST00000272371.2	-	23	2829	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	OTOF_ENST00000339598.3_Silent_p.S154S|OTOF_ENST00000402415.3_Silent_p.S211S|OTOF_ENST00000338581.6_Silent_p.S154S|OTOF_ENST00000403946.3_Silent_p.S901S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	901					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCCTGCCGAGCCGAAGC	0.697													C|||	310	0.061901	0.0673	0.0375	5008	,	,		9343	0.125		0.0169	False		,,,				2504	0.0532				p.S901S	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											.	OTOF	524	.	0			c.G2703A						PASS	.	C	,,,	306,3940		28,250,1845	26	26	26		462,2703,633,462	-9.8	0	2	dbSNP_113	26	107,8223		4,99,4062	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	32,349,5907	TT,TC,CC		1.2845,7.2068,3.284	,,,	154/1231,901/1998,211/1308,154/1231	26699159	413,12163	2123	4165	6288	SO:0001819	synonymous_variant	9381	exon23			GCCTGCCGAGCCG	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2703G>A	2.37:g.26699159C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	78	51	0.653846	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			C|0.956;T|0.044	0.044	strong		0.697	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26699159	C	T	26699159	2	4	22	1	0	0	0	0	0	0	0	1	11303	639	23	1		1	OTOF	2	26699159	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33	26699159	216500214	1255	6363										
OTOF	9381	hgsc.bcm.edu	37	chr2	26699822	26699822	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcctccacgatggagaaGagcaggtccttggagggcac	13	12	0	2	rs2272068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26699822G>A	ENST00000272371.2	-	22	2739	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	OTOF_ENST00000339598.3_Silent_p.L124L|OTOF_ENST00000402415.3_Silent_p.L181L|OTOF_ENST00000338581.6_Silent_p.L124L|OTOF_ENST00000403946.3_Silent_p.L871L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	871					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATGGAGAAGAGCAGGTCCT	0.607													G|||	287	0.0573083	0.0492	0.036	5008	,	,		7727	0.129		0.0169	False		,,,				2504	0.0511				p.L871L	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											.	OTOF	524	.	0			c.C2613T						PASS	.	G	,,,	244,4150	141.9+/-177.2	11,222,1964	76	62	67		372,2613,543,372	0.5	1	2	dbSNP_100	67	105,8483	56.4+/-117.6	1,103,4190	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	12,325,6154	AA,AG,GG		1.2226,5.553,2.6883	,,,	124/1231,871/1998,181/1308,124/1231	26699822	349,12633	2197	4294	6491	SO:0001819	synonymous_variant	9381	exon22			GGAGAAGAGCAGG	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2613C>T	2.37:g.26699822G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	114	51	0.447368	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			G|0.965;A|0.035	0.035	strong		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26699822	G	A	26699822	2	1	22	1	0	0	0	0	0	0	0	1	11303	929	33	2		2	OTOF	2	26699822	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	663	26699822	216499551	1256	6364										
OTOF	9381	hgsc.bcm.edu	37	chr2	26700700	26700700	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctccctgttgatcaggGgagtgagggacctcatgatc	12	12	2	3	rs4665855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26700700G>A	ENST00000272371.2	-	19	2341				OTOF_ENST00000339598.3_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.P21L|OTOF_ENST00000338581.6_Intron|OTOF_ENST00000403946.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGATCAGGGGAGTGAGGGA	0.572													G|||	3018	0.602636	0.4561	0.5994	5008	,	,		18953	0.9841		0.4414	False		,,,				2504	0.5757				p.P21L	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											OTOF_ENST00000402415,NS,carcinoma,0,2	OTOF	524	2	0			c.C62T						PASS	.	G	,,LEU/PRO,	1167,1487		265,637,425	46	53	50	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,62,	-0.6	0	2	dbSNP_111	50	1821,2795		348,1125,835	yes	intron,intron,missense,intron	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,98,	613,1762,1260	AA,AG,GG		39.4497,43.9714,41.1004	,,,	,,21/1308,	26700700	2988,4282	1327	2308	3635	SO:0001627	intron_variant	9381	exon1			ATCAGGGGAGTGA	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-83C>T	2.37:g.26700700G>A		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	204	201	0.985294	NM_194322	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	1357	0.6213369963369964	231	0.4695121951219512	211	0.5828729281767956	561	0.9807692307692307	354	0.46701846965699206	G	2.955	-0.215799	0.06101	0.439714	0.394497	ENSG00000115155	ENST00000402415	T	0.76839	-1.05	3.62	-0.572	0.11745	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	6	.	.	.	.	0.7994	0.01072	0.2277:0.1857:0.3963:0.1903	rs4665855;rs58375897;rs4665855	21	Q9HC10-3	.	L	21	ENSP00000383906:P21L	.	P	-	2	0	OTOF	26554204	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.242000	0.18087	-0.112000	0.11979	-1.581000	0.00855	CCC	G|0.410;A|0.590	0.590	strong		0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26700700	G	A	26700700	1	1	22	0	1	0	0	0	0	0	0	0	11303	1232	43	2		2	OTOF	2	26700700	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	878	26700700	216498673	1257	6365										
CIB4	130106	hgsc.bcm.edu	37	chr2	26805761	26805761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagcatgttgtcattgtcCagatccgactcactcaggac	9	12	3	1	rs7595964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:26805761C>T	ENST00000288861.4	-	6	512	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	153	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCATTGTCCAGATCCGACT	0.542													C|||	237	0.0473243	0.1483	0.0231	5008	,	,		21713	0.0		0.001	False		,,,				2504	0.0245				p.L153L		Atlas-SNP	.											.	CIB4	15	.	0			c.G459A						PASS	.	C		564,3842	251.8+/-258.4	33,498,1672	128	102	110		459	4.6	1	2	dbSNP_116	110	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous	CIB4	NM_001029881.1		33,522,5948	TT,TC,CC		0.2791,12.8007,4.521		153/186	26805761	588,12418	2203	4300	6503	SO:0001819	synonymous_variant	130106	exon6			ATTGTCCAGATCC		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.459G>A	2.37:g.26805761C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	80	39	0.4875	NM_001029881	B2RU18	Silent	SNP	ENST00000288861.4	37	CCDS33160.1																																																																																			C|0.951;T|0.049	0.049	strong		0.542	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			T	26805761	C	T	26805761	2	4	22	1	0	0	0	0	0	0	0	1	3423	581	21	2		2	CIB4	2	26805761	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	105061	26805761	216393612	1258	6366										
PREB	10113	hgsc.bcm.edu	37	chr2	27354306	27354306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaacctggaaaggcactCtggagcagcaggatggtcac	14	9	2	0	rs61276776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27354306C>T	ENST00000260643.2	-	9	1483	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Silent_p.Q352Q	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	410					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGGCACTCTGGAGCAGCA	0.577													C|||	48	0.00958466	0.0325	0.0072	5008	,	,		19726	0.0		0.0	False		,,,				2504	0.0				p.Q410Q		Atlas-SNP	.											.	PREB	37	.	0			c.G1230A						PASS	.	C		113,4285		3,107,2089	61	57	58		1230	5.1	1	2	dbSNP_129	58	1,8563		0,1,4281	no	coding-synonymous	PREB	NM_013388.4		3,108,6370	TT,TC,CC		0.0117,2.5693,0.8795		410/418	27354306	114,12848	2199	4282	6481	SO:0001819	synonymous_variant	10113	exon9			GGCACTCTGGAGC		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.1230G>A	2.37:g.27354306C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	87	38	0.436782	NM_013388	Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	CCDS1738.1	17	0.007783882783882784	13	0.026422764227642278	4	0.011049723756906077	0	0.0	0	0.0	C	14.76	2.630999	0.46944	0.025693	1.17E-4	ENSG00000138073	ENST00000456259	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.45796	0.1360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58521	-0.7622	4	.	.	.	-19.6044	13.7879	0.63121	0.0:1.0:0.0:0.0	rs61276776	.	.	.	K	153	.	.	R	-	2	0	PREB	27207810	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	1.333000	0.33816	2.611000	0.88343	0.655000	0.94253	AGA	C|0.989;T|0.011	0.011	strong		0.577	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		T	27354306	C	T	27354306	2	4	22	1	0	0	0	0	0	0	0	1	12470	912	32	2		2	PREB	2	27354306	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	548545	27354306	215845067	1259	6367										
C2orf53	339779	hgsc.bcm.edu	37	chr2	27361049	27361049	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggactgagtggaagagaacGgtggttgagagggagggagg	23	2	0	3	rs61739485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27361049G>C	ENST00000335524.3	-	3	674	c.149C>G	c.(148-150)cCg>cGg	p.P50R		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		50	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGAGAACGGTGGTTGAGA	0.592													G|||	118	0.0235623	0.0817	0.0115	5008	,	,		18470	0.0		0.002	False		,,,				2504	0.0				p.P50R		Atlas-SNP	.											.	C2orf53	45	.	0			c.C149G						PASS	.	G	ARG/PRO	269,4137	150.3+/-184.3	10,249,1944	99	90	93		149	0.8	0	2	dbSNP_129	93	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C2orf53	NM_178553.3	103	10,252,6241	CC,CG,GG		0.0349,6.1053,2.0913	benign	50/413	27361049	272,12734	2203	4300	6503	SO:0001583	missense	339779	exon3			GAGAACGGTGGTT																												ENST00000335524.3:c.149C>G	2.37:g.27361049G>C	ENSP00000335017:p.Pro50Arg	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	144	50	0.347222	NM_178553	Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	CCDS1739.1	29	0.013278388278388278	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	8.058	0.767521	0.15983	0.061053	3.49E-4	ENSG00000186143	ENST00000335524	T	0.48522	0.81	3.88	0.835	0.18886	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.09015	-1.0694	9	0.56958	D	0.05	-0.0394	8.7685	0.34717	0.0:0.256:0.5932:0.1508	rs61739485	50	Q53SZ7	CB053_HUMAN	R	50	ENSP00000335017:P50R	ENSP00000335017:P50R	P	-	2	0	C2orf53	27214553	0.014000	0.17966	0.000000	0.03702	0.002000	0.02628	1.283000	0.33237	-0.082000	0.12640	0.561000	0.74099	CCG	G|0.972;C|0.028	0.028	strong		0.592	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			C	27361049	G	C	27361049	3	2	22	1	0	0	0	0	1	0	0	0	2174	1116	39	4	1093	4	C2orf53	2	27361049	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6743	27361049	215838324	1260	6368										
SLC5A6	8884	hgsc.bcm.edu	37	chr2	27430237	27430237	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccaatattgggtcccaaaTcggtagatctctgacggcac	9	11	1	2	rs56970590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27430237T>C	ENST00000310574.3	-	3	755	c.282A>G	c.(280-282)cgA>cgG	p.R94R	SLC5A6_ENST00000408041.1_Silent_p.R94R	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	94					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GGGTCCCAAATCGGTAGATCT	0.587													T|||	245	0.0489217	0.0832	0.0375	5008	,	,		21395	0.001		0.0497	False		,,,				2504	0.0593				p.R94R		Atlas-SNP	.											.	SLC5A6	63	.	0			c.A282G						PASS	.	T		347,4059	180.1+/-208.5	13,321,1869	62	58	59		282	-5.2	0.1	2	dbSNP_129	59	413,8187	128.8+/-187.0	14,385,3901	no	coding-synonymous	SLC5A6	NM_021095.2		27,706,5770	CC,CT,TT		4.8023,7.8756,5.8435		94/636	27430237	760,12246	2203	4300	6503	SO:0001819	synonymous_variant	8884	exon3			CCCAAATCGGTAG	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.282A>G	2.37:g.27430237T>C		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	214	123	0.574766	NM_021095	B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	CCDS1740.1																																																																																			T|0.952;C|0.048	0.048	strong		0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		C	27430237	T	C	27430237	2	2	22	1	0	0	0	0	0	0	0	1	14669	1422	50	2		2	SLC5A6	2	27430237	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	69188	27430237	215769136	1261	6369										
C2orf28	51374	hgsc.bcm.edu	37	chr2	27439751	27439751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcttcgggattctgggaGccaccactctatccgtctcc	9	14	4	0	rs7437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27439751G>T	ENST00000606999.1	+	7	683	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	CAD_ENST00000403525.1_5'Flank|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.A151S|ATRAID_ENST00000380171.3_Missense_Mutation_p.A264S	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	209			A -> S (in dbSNP:rs7437). {ECO:0000269|Ref.1}.		cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											GATTCTGGGAGCCACCACTCT	0.498													T|||	281	0.0561102	0.1082	0.0389	5008	,	,		17936	0.001		0.0507	False		,,,				2504	0.0603				p.A264S		Atlas-SNP	.											.	.	.	.	0			c.G790T						PASS	.	T	SER/ALA,SER/ALA,SER/ALA	453,3953	784.6+/-414.7	25,403,1775	145	123	130		625,451,790	4.4	1	2	dbSNP_52	130	418,8182	800.8+/-407.4	14,390,3896	yes	missense,missense,missense	C2orf28	NM_001170795.1,NM_016085.4,NM_080592.3	99,99,99	39,793,5671	TT,TG,GG		4.8605,10.2814,6.6969	benign,benign,benign	209/230,151/172,264/285	27439751	871,12135	2203	4300	6503	SO:0001583	missense	51374	exon7			CTGGGAGCCACCA	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.625G>T	2.37:g.27439751G>T	ENSP00000476080:p.Ala209Ser	Somatic	257	1	0.00389105		WXS	Illumina HiSeq	Phase_I	268	127	0.473881	NM_080592	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		101	0.04624542124542125	48	0.0975609756097561	18	0.049723756906077346	1	0.0017482517482517483	34	0.044854881266490766	T	10.75	1.439545	0.25900	0.102814	0.048605	ENSG00000138085	ENST00000380171;ENST00000405489	T;T	0.47869	0.83;0.92	5.58	4.38	0.52667	.	0.224065	0.46145	N	0.000306	T	0.00328	0.0010	N	0.00621	-1.32	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26950	-1.0088	10	0.02654	T	1	-12.0644	4.9742	0.14133	0.2286:0.0:0.1592:0.6122	rs7437;rs1044272;rs3171996;rs7437	209;264	Q6UW56;Q6UW56-3	APR3_HUMAN;.	S	264;151	ENSP00000369518:A264S;ENSP00000384033:A151S	ENSP00000369518:A264S	A	+	1	0	C2orf28	27293255	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.898000	0.28404	0.948000	0.37687	-0.363000	0.07495	GCC	G|0.940;T|0.060	0.060	strong		0.498	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		T	27439751	G	T	27439751	3	4	22	1	0	0	0	0	1	0	0	0	2160	971	34	4	816	4	C2orf28	2	27439751	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9514	27439751	215759622	1262	6370										
CAD	790	hgsc.bcm.edu	37	chr2	27460968	27460968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccattgtggctcacgcAgagcagcaaaccgtggctgc	11	15	1	1	rs1141313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27460968A>G	ENST00000403525.1	+	29	4728	c.4584A>G	c.(4582-4584)gcA>gcG	p.A1528A	CAD_ENST00000264705.4_Silent_p.A1591A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTCACGCAGAGCAGCAAA	0.557													G|||	2277	0.454673	0.8374	0.4683	5008	,	,		21934	0.1488		0.2883	False		,,,				2504	0.4141				p.A1591A		Atlas-SNP	.											CAD,NS,carcinoma,+1,1	CAD	199	1	0			c.A4773G						PASS	.	G		3287,1119	398.1+/-330.7	1233,821,149	102	95	98		4773	-9.6	0.5	2	dbSNP_86	98	2564,6036	690.7+/-404.5	377,1810,2113	no	coding-synonymous	CAD	NM_004341.3		1610,2631,2262	GG,GA,AA		29.814,25.3972,44.9869		1591/2226	27460968	5851,7155	2203	4300	6503	SO:0001819	synonymous_variant	790	exon30			TCACGCAGAGCAG	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4584A>G	2.37:g.27460968A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	195	194	0.994872	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		825	0.37774725274725274	400	0.8130081300813008	152	0.4198895027624309	64	0.11188811188811189	209	0.2757255936675462	G	0.885	-0.727540	0.03158	0.746028	0.29814	ENSG00000084774	ENST00000458503	.	.	.	4.8	-9.6	0.00553	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999980619	.	.	.	.	.	.	T	0.20306	-1.0279	3	.	.	.	-0.1691	2.9165	0.05754	0.3979:0.2642:0.2509:0.0869	rs1141313;rs17855322;rs58779686;rs1141313	.	.	.	R	243	.	.	Q	+	2	0	CAD	27314472	0.000000	0.05858	0.529000	0.27951	0.107000	0.19398	-4.974000	0.00164	-2.338000	0.00627	-1.195000	0.01675	CAG	A|0.568;G|0.432	0.432	strong		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27460968	A	G	27460968	2	3	22	1	0	0	0	0	0	0	0	1	2565	175	7	3		3	CAD	2	27460968	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21217	27460968	215738405	1263	6371										
CAD	790	hgsc.bcm.edu	37	chr2	27462076	27462076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcgcatctttcacctgccCccgcaggaggacacctatgt	10	16	2	0	rs3739092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27462076C>T	ENST00000403525.1	+	31	5184	c.5040C>T	c.(5038-5040)ccC>ccT	p.P1680P	CAD_ENST00000264705.4_Silent_p.P1743P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCTGCCCCCGCAGGAGG	0.627													C|||	1330	0.265575	0.2716	0.3689	5008	,	,		20316	0.1488		0.2237	False		,,,				2504	0.3476				p.P1743P		Atlas-SNP	.											.	CAD	199	.	0			c.C5229T						PASS	.	C		1049,3357	373.9+/-321.0	127,795,1281	37	38	38		5229	-5.3	0	2	dbSNP_107	38	1995,6605	341.3+/-324.0	238,1519,2543	no	coding-synonymous	CAD	NM_004341.3		365,2314,3824	TT,TC,CC		23.1977,23.8084,23.4046		1743/2226	27462076	3044,9962	2203	4300	6503	SO:0001819	synonymous_variant	790	exon32			CCTGCCCCCGCAG	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5040C>T	2.37:g.27462076C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		495	0.22664835164835165	149	0.30284552845528456	112	0.30939226519337015	63	0.11013986013986014	171	0.22559366754617413	C	6.980	0.550843	0.13374	0.238084	0.231977	ENSG00000084774	ENST00000456311	.	.	.	5.16	-5.32	0.02722	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999995955	.	.	.	.	.	.	T	0.20405	-1.0276	5	0.42905	T	0.14	0.856	4.5504	0.12108	0.0831:0.2532:0.4063:0.2573	rs3739092;rs17855323;rs3739092	.	.	.	S	31	.	ENSP00000388740:P31S	P	+	1	0	CAD	27315580	0.000000	0.05858	0.001000	0.08648	0.902000	0.53008	-3.104000	0.00603	-2.352000	0.00616	-1.943000	0.00494	CCC	C|0.773;T|0.227	0.227	strong		0.627	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27462076	C	T	27462076	2	4	22	1	0	0	0	0	0	0	0	1	2565	610	22	2		2	CAD	2	27462076	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1108	27462076	215737297	1264	6372										
CAD	790	hgsc.bcm.edu	37	chr2	27462651	27462651	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccctcagcccctgccacTagtgagatgaccacggtatc	8	17	1	2	rs61741874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27462651T>C	ENST00000403525.1	+	33	5436	c.5292T>C	c.(5290-5292)acT>acC	p.T1764T	CAD_ENST00000264705.4_Silent_p.T1827T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTGCCACTAGTGAGATGA	0.582													C|||	305	0.0609026	0.1089	0.0403	5008	,	,		17448	0.001		0.0626	False		,,,				2504	0.0706				p.T1827T		Atlas-SNP	.											.	CAD	199	.	0			c.T5481C						PASS	.	C		470,3936		28,414,1761	43	46	45		5481	4.3	0.8	2	dbSNP_129	45	538,8060		23,492,3784	no	coding-synonymous	CAD	NM_004341.3		51,906,5545	CC,CT,TT		6.2573,10.6673,7.7515		1827/2226	27462651	1008,11996	2203	4299	6502	SO:0001819	synonymous_variant	790	exon34			TGCCACTAGTGAG	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5292T>C	2.37:g.27462651T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		113	0.051739926739926737	48	0.0975609756097561	19	0.052486187845303865	1	0.0017482517482517483	45	0.059366754617414245	C	3.673	-0.067097	0.07273	0.106673	0.062573	ENSG00000084774	ENST00000456311	.	.	.	5.15	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3809	7.5674	0.27887	0.0:0.7373:0.0:0.2627	rs61741874	.	.	.	Q	115	.	.	X	+	1	0	CAD	27316155	0.912000	0.30974	0.787000	0.31911	0.424000	0.31475	0.588000	0.23924	0.582000	0.29556	-0.994000	0.02522	TAG	A|0.000;C|0.070;G|0.000;T|0.929	0.070	strong		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			C	27462651	T	C	27462651	2	2	22	1	0	0	0	0	0	0	0	1	2565	1509	53	3		3	CAD	2	27462651	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	575	27462651	215736722	1265	6373										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27801403	27801403	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaactccaagtccatgtaCtcaagtgaagtctgcagaat	7	9	2	2	rs1919125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27801403C>G	ENST00000408964.2	+	1	2015	c.1964C>G	c.(1963-1965)aCt>aGt	p.T655S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	655			T -> S (in dbSNP:rs1919125).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGTCCATGTACTCAAGTGAAG	0.393													T|||	3303	0.659545	0.7368	0.6888	5008	,	,		21823	0.8462		0.498	False		,,,				2504	0.5082				p.T655S		Atlas-SNP	.											.	C2orf16	357	.	0			c.C1964G						PASS	.	T	SER/THR	2616,1152		902,812,170	97	95	95		1964	-0.7	0	2	dbSNP_92	95	4085,4151		1029,2027,1062	yes	missense	C2orf16	NM_032266.3	58	1931,2839,1232	GG,GC,CC		49.5993,30.5732,44.1769	benign	655/1985	27801403	6701,5303	1884	4118	6002	SO:0001583	missense	84226	exon1			CATGTACTCAAGT	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1964C>G	2.37:g.27801403C>G	ENSP00000386190:p.Thr655Ser	Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	301	301	1	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	1448	0.663003663003663	359	0.7296747967479674	229	0.6325966850828729	490	0.8566433566433567	370	0.48812664907651715	T	0.082	-1.181599	0.01633	0.694268	0.495993	ENSG00000221843	ENST00000408964	T	0.05649	3.41	4.27	-0.677	0.11357	.	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.12218	-1.0556	8	0.10377	T	0.69	.	5.683	0.17786	0.0:0.2722:0.5177:0.2101	rs1919125;rs17756208;rs60093522;rs1919125	655	Q68DN1	CB016_HUMAN	S	655	ENSP00000386190:T655S	ENSP00000386190:T655S	T	+	2	0	C2orf16	27654907	0.001000	0.12720	0.040000	0.18447	0.033000	0.12548	-0.497000	0.06428	-0.356000	0.08187	-1.482000	0.00985	ACT	C|0.375;G|0.625	0.625	strong		0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27801403	C	G	27801403	3	3	22	1	0	0	0	0	1	0	0	0	2157	565	20	4	1966	4	C2orf16	2	27801403	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	338752	27801403	215397970	1266	6374										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27801418	27801418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtactcaagtgaagtctgCagaattaacctcaccgcaaa	7	10	3	2	rs1919126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27801418C>A	ENST00000408964.2	+	1	2030	c.1979C>A	c.(1978-1980)gCa>gAa	p.A660E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	660			A -> E (in dbSNP:rs1919126).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTGAAGTCTGCAGAATTAACC	0.393													A|||	3303	0.659545	0.7368	0.6888	5008	,	,		21677	0.8462		0.498	False		,,,				2504	0.5082				p.A660E		Atlas-SNP	.											.	C2orf16	357	.	0			c.C1979A						PASS	.	A	GLU/ALA	2621,1157		901,819,169	97	94	95		1979	-3.1	0.6	2	dbSNP_92	95	4093,4147		1033,2027,1060	yes	missense	C2orf16	NM_032266.3	107	1934,2846,1229	AA,AC,CC		49.6723,30.6247,44.1338	benign	660/1985	27801418	6714,5304	1889	4120	6009	SO:0001583	missense	84226	exon1			AGTCTGCAGAATT	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1979C>A	2.37:g.27801418C>A	ENSP00000386190:p.Ala660Glu	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	282	282	1	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	1446	0.6620879120879121	359	0.7296747967479674	228	0.6298342541436464	490	0.8566433566433567	369	0.4868073878627968	A	3.617	-0.078286	0.07184	0.693753	0.496723	ENSG00000221843	ENST00000408964	T	0.08807	3.05	4.83	-3.09	0.05331	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.10064	-1.0646	8	0.33141	T	0.24	.	1.8543	0.03175	0.3285:0.3785:0.1261:0.1669	rs1919126;rs17705292;rs56730508;rs1919126	660	Q68DN1	CB016_HUMAN	E	660	ENSP00000386190:A660E	ENSP00000386190:A660E	A	+	2	0	C2orf16	27654922	0.755000	0.28372	0.604000	0.28916	0.421000	0.31385	-1.056000	0.03489	-1.023000	0.03342	-0.363000	0.07495	GCA	C|0.365;A|0.635	0.635	strong		0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		A	27801418	C	A	27801418	3	1	22	1	0	0	0	0	1	0	0	0	2157	710	25	4	1981	4	C2orf16	2	27801418	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	27801418	215397955	1267	6375										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27801493	27801493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaacaagggcttcaggctgTgaaatctacagtgataaaaa	9	6	2	2	rs1919127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27801493T>C	ENST00000408964.2	+	1	2105	c.2054T>C	c.(2053-2055)gTg>gCg	p.V685A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	685			V -> A (in dbSNP:rs1919127).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTTCAGGCTGTGAAATCTACA	0.403													T|||	1539	0.307308	0.1732	0.5231	5008	,	,		21205	0.5079		0.2644	False		,,,				2504	0.1728				p.V685A		Atlas-SNP	.											.	C2orf16	357	.	0			c.T2054C						PASS	.	T	ALA/VAL	687,3047		60,567,1240	82	78	79		2054	1.8	0	2	dbSNP_92	79	2218,6008		299,1620,2194	yes	missense	C2orf16	NM_032266.3	64	359,2187,3434	CC,CT,TT		26.9633,18.3985,24.2893	possibly-damaging	685/1985	27801493	2905,9055	1867	4113	5980	SO:0001583	missense	84226	exon1			AGGCTGTGAAATC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2054T>C	2.37:g.27801493T>C	ENSP00000386190:p.Val685Ala	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	150	75	0.5	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	772	0.3534798534798535	72	0.14634146341463414	171	0.4723756906077348	322	0.5629370629370629	207	0.27308707124010556	T	12.13	1.845535	0.32606	0.183985	0.269633	ENSG00000221843	ENST00000408964	T	0.07021	3.23	4.27	1.81	0.25067	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.33318	0.408	B	0.28553	0.091	T	0.27706	-1.0066	8	0.30078	T	0.28	.	3.4217	0.07396	0.2069:0.1085:0.0:0.6846	rs1919127;rs17006144;rs57887820;rs1919127	685	Q68DN1	CB016_HUMAN	A	685	ENSP00000386190:V685A	ENSP00000386190:V685A	V	+	2	0	C2orf16	27654997	0.001000	0.12720	0.003000	0.11579	0.752000	0.42762	0.405000	0.21015	0.391000	0.25143	0.459000	0.35465	GTG	T|0.680;C|0.320	0.320	strong		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27801493	T	C	27801493	3	2	22	1	0	0	0	0	1	0	0	0	2157	1696	59	2	2056	2	C2orf16	2	27801493	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75	27801493	215397880	1268	6376										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27801739	27801739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtatccagagctttggataTaaaaaaccctgggacagata	9	7	0	2	rs13416968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27801739T>C	ENST00000408964.2	+	1	2351	c.2300T>C	c.(2299-2301)aTa>aCa	p.I767T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	767			I -> T (in dbSNP:rs13416968).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCTTTGGATATAAAAAACCCT	0.408													T|||	55	0.0109824	0.0378	0.0043	5008	,	,		19518	0.0		0.002	False		,,,				2504	0.0				p.I767T		Atlas-SNP	.											.	C2orf16	357	.	0			c.T2300C						PASS	.	T	THR/ILE	113,3507		3,107,1700	138	136	137		2300	2.4	0.6	2	dbSNP_121	137	2,8150		0,2,4074	yes	missense	C2orf16	NM_032266.3	89	3,109,5774	CC,CT,TT		0.0245,3.1215,0.9769	probably-damaging	767/1985	27801739	115,11657	1810	4076	5886	SO:0001583	missense	84226	exon1			TGGATATAAAAAA	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2300T>C	2.37:g.27801739T>C	ENSP00000386190:p.Ile767Thr	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	219	104	0.474886	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	21	0.009615384615384616	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	3.675	-0.066708	0.07273	0.031215	2.45E-4	ENSG00000221843	ENST00000408964	T	0.09723	2.95	4.83	2.41	0.29592	.	.	.	.	.	T	0.01353	0.0044	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.38802	-0.9644	9	0.37606	T	0.19	.	4.9147	0.13840	0.0:0.0967:0.1882:0.7151	rs13416968;rs13416968	767	Q68DN1	CB016_HUMAN	T	767	ENSP00000386190:I767T	ENSP00000386190:I767T	I	+	2	0	C2orf16	27655243	0.169000	0.23002	0.607000	0.28956	0.030000	0.12068	0.133000	0.15912	0.420000	0.25954	-0.488000	0.04728	ATA	T|0.986;C|0.014	0.014	strong		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27801739	T	C	27801739	3	2	22	1	0	0	0	0	1	0	0	0	2157	1406	49	2	2302	2	C2orf16	2	27801739	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	246	27801739	215397634	1269	6377										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27802457	27802457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaactcaacgttcaatggTatatcccaagaagtcattca	5	10	4	1	rs12329054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27802457T>C	ENST00000408964.2	+	1	3069	c.3018T>C	c.(3016-3018)ggT>ggC	p.G1006G	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1006						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGTTCAATGGTATATCCCAAG	0.443													T|||	55	0.0109824	0.0378	0.0043	5008	,	,		20778	0.0		0.002	False		,,,				2504	0.0				p.G1006G		Atlas-SNP	.											.	C2orf16	357	.	0			c.T3018C						PASS	.	T		122,3976		3,116,1930	101	100	100		3018	-0.3	0.1	2	dbSNP_120	100	3,8421		0,3,4209	no	coding-synonymous	C2orf16	NM_032266.3		3,119,6139	CC,CT,TT		0.0356,2.9771,0.9982		1006/1985	27802457	125,12397	2049	4212	6261	SO:0001819	synonymous_variant	84226	exon1			CAATGGTATATCC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3018T>C	2.37:g.27802457T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	59	0.578431	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																			T|0.986;C|0.014	0.014	strong		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27802457	T	C	27802457	2	2	22	1	0	0	0	0	0	0	0	1	2157	1625	57	2		2	C2orf16	2	27802457	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	718	27802457	215396916	1270	6378										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27803810	27803810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttcgactgcccaagccCacagattcccaaagtggtat	7	15	1	1	rs13408423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27803810C>T	ENST00000408964.2	+	1	4422	c.4371C>T	c.(4369-4371)ccC>ccT	p.P1457P	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1457						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGCCCAAGCCCACAGATTCCC	0.493													C|||	55	0.0109824	0.0378	0.0043	5008	,	,		18436	0.0		0.002	False		,,,				2504	0.0				p.P1457P		Atlas-SNP	.											.	C2orf16	357	.	0			c.C4371T						PASS	.	C		118,3726		3,112,1807	97	100	99		4371	2.5	0	2	dbSNP_121	99	2,8260		0,2,4129	no	coding-synonymous	C2orf16	NM_032266.3		3,114,5936	TT,TC,CC		0.0242,3.0697,0.9912		1457/1985	27803810	120,11986	1922	4131	6053	SO:0001819	synonymous_variant	84226	exon1			CAAGCCCACAGAT	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4371C>T	2.37:g.27803810C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	68	42	0.617647	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																			C|0.986;T|0.014	0.014	strong		0.493	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27803810	C	T	27803810	2	4	22	1	0	0	0	0	0	0	0	1	2157	581	21	2		2	C2orf16	2	27803810	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1353	27803810	215395563	1271	6379										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27804114	27804114	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttctgagagaacccgtCataacccctcttggagaaac	8	13	3	3	rs13392197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27804114C>T	ENST00000408964.2	+	1	4726	c.4675C>T	c.(4675-4677)Cat>Tat	p.H1559Y	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1559	Arg-rich.		H -> Y (in dbSNP:rs13392197).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAACCCGTCATAACCCCTC	0.537													C|||	59	0.0117812	0.0408	0.0043	5008	,	,		18030	0.0		0.002	False		,,,				2504	0.0				p.H1559Y		Atlas-SNP	.											.	C2orf16	357	.	0			c.C4675T						PASS	.	C	TYR/HIS	130,3650		3,124,1763	118	118	118		4675	-5.8	0	2	dbSNP_121	118	3,8217		0,3,4107	yes	missense	C2orf16	NM_032266.3	83	3,127,5870	TT,TC,CC		0.0365,3.4392,1.1083	benign	1559/1985	27804114	133,11867	1890	4110	6000	SO:0001583	missense	84226	exon1			ACCCGTCATAACC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4675C>T	2.37:g.27804114C>T	ENSP00000386190:p.His1559Tyr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	81	44	0.54321	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	24	0.01098901098901099	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	5.555	0.287230	0.10513	0.034392	3.65E-4	ENSG00000221843	ENST00000408964	T	0.04809	3.55	4.05	-5.76	0.02376	.	.	.	.	.	T	0.00552	0.0018	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47699	-0.9097	9	0.08381	T	0.77	.	2.2504	0.04042	0.1341:0.3469:0.1054:0.4136	rs13392197;rs52835437;rs13392197	1559	Q68DN1	CB016_HUMAN	Y	1559	ENSP00000386190:H1559Y	ENSP00000386190:H1559Y	H	+	1	0	C2orf16	27657618	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.314000	0.01125	-1.329000	0.02258	-0.379000	0.06801	CAT	C|0.983;T|0.017	0.017	strong		0.537	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27804114	C	T	27804114	3	4	22	1	0	0	0	0	1	0	0	0	2157	826	29	2	4677	2	C2orf16	2	27804114	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	304	27804114	215395259	1272	6380										
C2orf16	84226	hgsc.bcm.edu	37	chr2	27804690	27804690	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccctctgagagaagacatCacagtccctctgagagaagc					rs555322236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27804690C>T	ENST00000408964.2	+	1	5302	c.5251C>T	c.(5251-5253)Cac>Tac	p.H1751Y	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1751	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGACATCACAGTCCCTC	0.557													C|||	6	0.00119808	0.0038	0.0	5008	,	,		20958	0.001		0.0	False		,,,				2504	0.0				p.H1751Y		Atlas-SNP	.											.	C2orf16	357	.	0			c.C5251T						PASS	.						192	196	195					2																	27804690		1920	4145	6065	SO:0001583	missense	84226	exon1			AGACATCACAGTC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5251C>T	2.37:g.27804690C>T	ENSP00000386190:p.His1751Tyr	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	158	13	0.0822785	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428580	0.43122	.	.	ENSG00000221843	ENST00000408964	T	0.05199	3.48	3.97	2.1	0.27182	.	.	.	.	.	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	P	0.47604	0.898	B	0.37550	0.253	T	0.41520	-0.9504	9	0.30078	T	0.28	.	8.7197	0.34434	0.1703:0.6649:0.1648:0.0	.	1751	Q68DN1	CB016_HUMAN	Y	1751	ENSP00000386190:H1751Y	ENSP00000386190:H1751Y	H	+	1	0	C2orf16	27658194	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.020000	0.13466	0.607000	0.29982	0.456000	0.33151	CAC	.	.	none		0.557	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27804690	C	T	27804690	3	4	22	1	0	0	0	0	1	0	0	0	2157	826	29	2	5253	2	C2orf16	2	27804690	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	576	27804690	215394683	1273	6381	133	2								
C2orf16	84226	hgsc.bcm.edu	37	chr2	27804691	27804691	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctctgagagaagacatcAcagtccctctgagagaagcc					rs573591891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27804691A>G	ENST00000408964.2	+	1	5303	c.5252A>G	c.(5251-5253)cAc>cGc	p.H1751R	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1751	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGACATCACAGTCCCTCT	0.552													A|||	8	0.00159744	0.0053	0.0	5008	,	,		20961	0.001		0.0	False		,,,				2504	0.0				p.H1751R		Atlas-SNP	.											.	C2orf16	357	.	0			c.A5252G						PASS	.						192	196	195					2																	27804691		1917	4144	6061	SO:0001583	missense	84226	exon1			GACATCACAGTCC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5252A>G	2.37:g.27804691A>G	ENSP00000386190:p.His1751Arg	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	157	13	0.0828025	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.199397	0.00299	.	.	ENSG00000221843	ENST00000408964	T	0.04706	3.57	3.97	-7.95	0.01148	.	.	.	.	.	T	0.01592	0.0051	N	0.01729	-0.75	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42682	-0.9437	9	0.02654	T	1	.	14.4295	0.67240	0.7984:0.0:0.1133:0.0882	.	1751	Q68DN1	CB016_HUMAN	R	1751	ENSP00000386190:H1751R	ENSP00000386190:H1751R	H	+	2	0	C2orf16	27658195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.276000	0.00004	-2.917000	0.00306	-1.919000	0.00516	CAC	.	.	none		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27804691	A	G	27804691	3	3	22	1	0	0	0	0	1	0	0	0	2157	159	6	2	5254	2	C2orf16	2	27804691	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	27804691	215394682	1274	6382	133	2								
ZNF512	84450	hgsc.bcm.edu	37	chr2	27838058	27838058	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatatactcgtccagggctCcctaccttcagccaggaagt	8	13	1	0	rs11127071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27838058C>A	ENST00000355467.4	+	11	1238	c.1155C>A	c.(1153-1155)ctC>ctA	p.L385L	ZNF512_ENST00000556601.1_Silent_p.L254L|ZNF512_ENST00000379717.1_Silent_p.L384L|ZNF512_ENST00000416005.2_Silent_p.L356L|ZNF512_ENST00000413371.2_Silent_p.L308L|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GTCCAGGGCTCCCTACCTTCA	0.378													A|||	3269	0.652756	0.7148	0.6873	5008	,	,		17541	0.8452		0.497	False		,,,				2504	0.5061				p.L385L		Atlas-SNP	.											.	ZNF512	54	.	0			c.C1155A						PASS	.	A		2965,1441	466.0+/-354.4	979,1007,217	176	168	170		1155	-6	0.4	2	dbSNP_120	170	4252,4348	581.1+/-391.2	1064,2124,1112	no	coding-synonymous	ZNF512	NM_032434.2		2043,3131,1329	AA,AC,CC		49.4419,32.7054,44.5102		385/568	27838058	7217,5789	2203	4300	6503	SO:0001819	synonymous_variant	84450	exon11			AGGGCTCCCTACC	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1155C>A	2.37:g.27838058C>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	156	155	0.99359	NM_032434	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	CCDS1758.1																																																																																			C|0.399;A|0.601	0.601	strong		0.378	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		A	27838058	C	A	27838058	2	1	22	1	0	0	0	0	0	0	0	1	17953	842	30	4		4	ZNF512	2	27838058	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33367	27838058	215361315	1275	6383										
SUPT7L	9913	hgsc.bcm.edu	37	chr2	27883958	27883958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggaggtgacccagggcaCgagggaagaggttcactctc	16	9	2	3	rs6756254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27883958C>T	ENST00000337768.5	-	3	881	c.312G>A	c.(310-312)tcG>tcA	p.S104S	SUPT7L_ENST00000464789.2_Silent_p.S102S|SUPT7L_ENST00000406540.1_Silent_p.S102S|SUPT7L_ENST00000405491.1_Silent_p.S102S|SUPT7L_ENST00000404798.2_Intron|SLC4A1AP_ENST00000326019.6_5'Flank	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	104					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					ACCCAGGGCACGAGGGAAGAG	0.527													C|||	333	0.0664936	0.2307	0.0187	5008	,	,		20175	0.0		0.0129	False		,,,				2504	0.002				p.S104S		Atlas-SNP	.											.	SUPT7L	36	.	0			c.G312A						PASS	.	C		690,3508		61,568,1470	117	123	121		312	-2.7	0.3	2	dbSNP_116	121	65,8345		0,65,4140	no	coding-synonymous	SUPT7L	NM_014860.1		61,633,5610	TT,TC,CC		0.7729,16.4364,5.9883		104/415	27883958	755,11853	2099	4205	6304	SO:0001819	synonymous_variant	9913	exon3			AGGGCACGAGGGA	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.312G>A	2.37:g.27883958C>T		Somatic	358	0	0		WXS	Illumina HiSeq	Phase_I	440	194	0.440909	NM_014860	B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	ENST00000337768.5	37	CCDS42667.1																																																																																			C|0.940;T|0.060	0.060	strong		0.527	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		T	27883958	C	T	27883958	2	4	22	1	0	0	0	0	0	0	0	1	15398	523	19	1		1	SUPT7L	2	27883958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45900	27883958	215315415	1276	6384										
SLC4A1AP	22950	hgsc.bcm.edu	37	chr2	27886820	27886820	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcagagaccctggcgtcGcaagacctcagtggggactt	13	12	2	2	rs58106741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:27886820G>T	ENST00000326019.6	+	1	483	c.201G>T	c.(199-201)tcG>tcT	p.S67S	SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	67						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CCCTGGCGTCGCAAGACCTCA	0.592													G|||	334	0.0666933	0.2315	0.0187	5008	,	,		16985	0.0		0.0129	False		,,,				2504	0.002				p.S67S		Atlas-SNP	.											.	SLC4A1AP	63	.	0			c.G201T						PASS	.	G		771,3635	315.5+/-294.2	77,617,1509	77	76	76		201	-2.8	0	2	dbSNP_129	76	68,8532	40.3+/-97.0	0,68,4232	no	coding-synonymous	SLC4A1AP	NM_018158.2		77,685,5741	TT,TG,GG		0.7907,17.4989,6.4509		67/797	27886820	839,12167	2203	4300	6503	SO:0001819	synonymous_variant	22950	exon1			GGCGTCGCAAGAC		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.201G>T	2.37:g.27886820G>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	CCDS33166.1																																																																																			G|0.940;T|0.060	0.060	strong		0.592	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		T	27886820	G	T	27886820	2	4	22	1	0	0	0	0	0	0	0	1	14653	1074	38	4		4	SLC4A1AP	2	27886820	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2862	27886820	215312553	1277	6385										
PLB1	151056	hgsc.bcm.edu	37	chr2	28855840	28855840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgacctcaccttcttctcCgaggactgttttcacttctc	5	15	5	1	rs3752902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:28855840C>T	ENST00000327757.5	+	56	4076	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Silent_p.S309S|PLB1_ENST00000422425.2_Silent_p.S1333S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1344	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTTCTTCTCCGAGGACTGTT	0.582													C|||	628	0.125399	0.3646	0.0504	5008	,	,		17064	0.0516		0.0417	False		,,,				2504	0.0174				p.S1344S		Atlas-SNP	.											PLB1_ENST00000422425,NS,carcinoma,+1,2	PLB1	255	2	0			c.C4032T						PASS	.	C	,	1376,3030	457.5+/-351.6	200,976,1027	160	150	154		3999,4032	-6.1	0.8	2	dbSNP_107	154	171,8429	78.4+/-141.0	3,165,4132	no	coding-synonymous,coding-synonymous	PLB1	NM_001170585.1,NM_153021.4	,	203,1141,5159	TT,TC,CC		1.9884,31.2301,11.8945	,	1333/1448,1344/1459	28855840	1547,11459	2203	4300	6503	SO:0001819	synonymous_variant	151056	exon56			CTTCTCCGAGGAC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4032C>T	2.37:g.28855840C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	130	66	0.507692	NM_153021	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	232|232	0.10622710622710622|0.10622710622710622	161|161	0.32723577235772355|0.32723577235772355	18|18	0.049723756906077346|0.049723756906077346	34|34	0.05944055944055944|0.05944055944055944	19|19	0.025065963060686015|0.025065963060686015	C|C	10.40|10.40	1.338375|1.338375	0.24253|0.24253	0.312301|0.312301	0.019884|0.019884	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000436775	.|.	.|.	.|.	5.77|5.77	-6.11|-6.11	0.02131|0.02131	.|.	.|.	.|.	.|.	.|.	T|.	0.00012|.	0.0000|.	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999999772039|0.999999999772039	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42849|.	-0.9427|.	3|.	.|.	.|.	.|.	-24.6435|-24.6435	1.4277|1.4277	0.02327|0.02327	0.2139:0.1088:0.231:0.4463|0.2139:0.1088:0.231:0.4463	rs3752902;rs3752902|rs3752902;rs3752902	.|.	.|.	.|.	L|X	1332|72	.|.	.|.	P|R	+|+	2|1	0|2	PLB1|PLB1	28709344|28709344	0.003000|0.003000	0.15002|0.15002	0.797000|0.797000	0.32132|0.32132	0.951000|0.951000	0.60555|0.60555	-2.494000|-2.494000	0.00972|0.00972	-0.937000|-0.937000	0.03719|0.03719	-0.224000|-0.224000	0.12420|0.12420	CCG|CGA	C|0.881;T|0.119	0.119	strong		0.582	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			T	28855840	C	T	28855840	2	4	22	1	0	0	0	0	0	0	0	1	12024	639	23	1		1	PLB1	2	28855840	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	969020	28855840	214343533	1278	6386										
SPDYA	245711	hgsc.bcm.edu	37	chr2	29063342	29063342	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactggttctgaaggtatgaTttagtaatatgccagaatta	9	4	1	3	rs6747208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29063342T>C	ENST00000462832.1	+	0	1756				SPDYA_ENST00000334056.5_Intron|SPDYA_ENST00000379579.4_Intron					speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAAGGTATGATTTAGTAATAT	0.373													T|||	36	0.0071885	0.0272	0.0	5008	,	,		19472	0.0		0.0	False		,,,				2504	0.0				p.I286T		Atlas-SNP	.											.	SPDYA	41	.	0			c.T857C						PASS	.	T	THR/ILE,,	85,4321	68.7+/-106.4	0,85,2118	69	68	69		857,,	1.7	0.9	2	dbSNP_116	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	SPDYA	NM_001008779.1,NM_001142634.1,NM_182756.3	89,,	0,86,6417	CC,CT,TT		0.0116,1.9292,0.6612	,,	286/287,,	29063342	86,12920	2203	4300	6503	SO:0001624	3_prime_UTR_variant	245711	exon5			GTATGATTTAGTA	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000462832.1:c.*1753T>C	2.37:g.29063342T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	109	56	0.513761	NM_001008779		Missense_Mutation	SNP	ENST00000462832.1	37																																																																																				T|0.993;C|0.007	0.007	strong		0.373	SPDYA-003	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157172.2	NM_182756		C	29063342	T	C	29063342	1	2	22	0	1	0	0	0	0	0	0	0	15026	1493	52	2		2	SPDYA	2	29063342	3'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	207502	29063342	214136031	1279	6387										
FAM179A	165186	hgsc.bcm.edu	37	chr2	29225502	29225502	+	Silent	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggtgcccaggccgatgccTctcatccagagcatccctac					rs72786178|rs386644304|rs200686651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29225502T>G	ENST00000379558.4	+	5	879	c.528T>G	c.(526-528)ccT>ccG	p.P176P	FAM179A_ENST00000403861.2_Silent_p.P176P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	176										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCGATGCCTCTCATCCAGA	0.657													T|||	946	0.188898	0.4372	0.1066	5008	,	,		17273	0.1617		0.0726	False		,,,				2504	0.0593				p.P176P		Atlas-SNP	.											.	FAM179A	106	.	0			c.T528G						PASS	.	T		1443,2525		270,903,811	28	35	33		528	-3.7	1	2	dbSNP_130	33	565,7761		15,535,3613	no	coding-synonymous	FAM179A	NM_199280.2		285,1438,4424	GG,GT,TT		6.786,36.3659,16.3332		176/1020	29225502	2008,10286	1984	4163	6147	SO:0001819	synonymous_variant	165186	exon5			GATGCCTCTCATC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.528T>G	2.37:g.29225502T>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	131	72	0.549618	NM_199280	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																			T|0.833;G|0.167	0.167	strong		0.657	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		G	29225502	T	G	29225502	2	3	22	1	0	0	0	0	0	0	0	1	5505	1538	54	5		5	FAM179A	2	29225502	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	162160	29225502	213973871	1280	6388	134	2								
FAM179A	165186	hgsc.bcm.edu	37	chr2	29225504	29225504	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcccaggccgatgcctcTcatccagagcatccctacca					rs72786179|rs386644304|rs200686651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29225504T>C	ENST00000379558.4	+	5	881	c.530T>C	c.(529-531)cTc>cCc	p.L177P	FAM179A_ENST00000403861.2_Missense_Mutation_p.L177P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	177										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCGATGCCTCTCATCCAGAGC	0.652													C|||	946	0.188898	0.4372	0.1066	5008	,	,		17380	0.1617		0.0726	False		,,,				2504	0.0593				p.L177P		Atlas-SNP	.											.	FAM179A	106	.	0			c.T530C						PASS	.	C	PRO/LEU	1441,2533		271,899,817	28	35	33		530	5.2	1	2	dbSNP_130	33	564,7764		16,532,3616	yes	missense	FAM179A	NM_199280.2	98	287,1431,4433	CC,CT,TT		6.7723,36.2607,16.2982	benign	177/1020	29225504	2005,10297	1987	4164	6151	SO:0001583	missense	165186	exon5			TGCCTCTCATCCA	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.530T>C	2.37:g.29225504T>C	ENSP00000368876:p.Leu177Pro	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	131	72	0.549618	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	424	0.19413919413919414	226	0.45934959349593496	37	0.10220994475138122	105	0.18356643356643357	56	0.07387862796833773	C	1.584	-0.530884	0.04112	0.362607	0.067723	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.03889	3.77;3.98	5.18	5.18	0.71444	.	.	.	.	.	T	0.00012	0.0000	N	0.01168	-0.975	0.28820	P	0.897713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39563	-0.9608	8	0.02654	T	1	.	9.9709	0.41754	0.0:0.9061:0.0:0.0939	.	177;177	F8W8E4;Q6ZUX3	.;F179A_HUMAN	P	177	ENSP00000368876:L177P;ENSP00000384699:L177P	ENSP00000368876:L177P	L	+	2	0	FAM179A	29079008	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	2.670000	0.46833	1.192000	0.43071	-0.227000	0.12334	CTC	T|0.832;C|0.168	0.168	strong		0.652	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		C	29225504	T	C	29225504	3	2	22	1	0	0	0	0	1	0	0	0	5505	1551	54	3	544	3	FAM179A	2	29225504	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2	29225504	213973869	1281	6389	134	2								
FAM179A	165186	hgsc.bcm.edu	37	chr2	29226417	29226417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgcagaagtccctgggCgccatcgtgatcccacccat	10	14	0	3	rs76285160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29226417C>T	ENST00000379558.4	+	6	1050	c.699C>T	c.(697-699)ggC>ggT	p.G233G	FAM179A_ENST00000403861.2_Silent_p.G233G	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	233										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTCCCTGGGCGCCATCGTGA	0.637													C|||	371	0.0740815	0.1225	0.0231	5008	,	,		19082	0.1508		0.0109	False		,,,				2504	0.0307				p.G233G		Atlas-SNP	.											.	FAM179A	106	.	0			c.C699T						PASS	.	C		385,3749		10,365,1692	40	46	44		699	-10.3	0	2	dbSNP_132	44	24,8338		0,24,4157	no	coding-synonymous	FAM179A	NM_199280.2		10,389,5849	TT,TC,CC		0.287,9.313,3.273		233/1020	29226417	409,12087	2067	4181	6248	SO:0001819	synonymous_variant	165186	exon6			CCTGGGCGCCATC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.699C>T	2.37:g.29226417C>T		Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	241	125	0.518672	NM_199280	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																			C|0.929;T|0.071	0.071	strong		0.637	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29226417	C	T	29226417	2	4	22	1	0	0	0	0	0	0	0	1	5505	755	27	1		1	FAM179A	2	29226417	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	913	29226417	213972956	1282	6390										
FAM179A	165186	hgsc.bcm.edu	37	chr2	29240783	29240783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccctgcccagcatccccAtcagccggcaggagccccgc	9	22	1	0	rs1109758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29240783A>G	ENST00000379558.4	+	10	1672	c.1321A>G	c.(1321-1323)Atc>Gtc	p.I441V	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	441			I -> V (in dbSNP:rs1109758).							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCATCCCCATCAGCCGGCA	0.677													G|||	2010	0.401358	0.6679	0.304	5008	,	,		15556	0.3224		0.341	False		,,,				2504	0.2536				p.I441V		Atlas-SNP	.											.	FAM179A	106	.	0			c.A1321G						PASS	.	G	VAL/ILE	2212,1698		640,932,383	13	18	16		1321	1.1	0.1	2	dbSNP_86	16	2639,5645		431,1777,1934	yes	missense	FAM179A	NM_199280.2	29	1071,2709,2317	GG,GA,AA		31.8566,43.4271,39.7819	benign	441/1020	29240783	4851,7343	1955	4142	6097	SO:0001583	missense	165186	exon10			ATCCCCATCAGCC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1321A>G	2.37:g.29240783A>G	ENSP00000368876:p.Ile441Val	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	124	48	0.387097	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	888	0.4065934065934066	337	0.6849593495934959	113	0.31215469613259667	181	0.31643356643356646	257	0.3390501319261214	G	0	-2.582335	0.00129	0.565729	0.318566	ENSG00000189350	ENST00000379558	T	0.04502	3.61	4.26	1.07	0.20283	.	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.38475	P	0.052425000000000055	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	8	0.08599	T	0.76	.	8.8404	0.35137	0.4176:0.0:0.5824:0.0	rs1109758;rs4420672;rs17007448;rs58321497;rs1109758	441	Q6ZUX3	F179A_HUMAN	V	441	ENSP00000368876:I441V	ENSP00000368876:I441V	I	+	1	0	FAM179A	29094287	0.064000	0.20934	0.083000	0.20561	0.007000	0.05969	0.232000	0.17891	-0.122000	0.11766	-0.914000	0.02751	ATC	A|0.599;G|0.401	0.401	strong		0.677	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		G	29240783	A	G	29240783	3	3	22	1	0	0	0	0	1	0	0	0	5505	217	8	2	1355	2	FAM179A	2	29240783	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14366	29240783	213958590	1283	6391										
CLIP4	79745	hgsc.bcm.edu	37	chr2	29356567	29356567	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaactcagcttattgacctGggagcagacattagtttgcg	11	9	1	2	rs17749904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29356567G>C	ENST00000320081.5	+	5	669	c.414G>C	c.(412-414)ctG>ctC	p.L138L	CLIP4_ENST00000401605.1_Silent_p.L138L|CLIP4_ENST00000404424.1_Silent_p.L138L|CLIP4_ENST00000401617.2_Silent_p.L31L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	138										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTATTGACCTGGGAGCAGACA	0.353													G|||	625	0.1248	0.0681	0.1326	5008	,	,		17197	0.0149		0.2008	False		,,,				2504	0.2311				p.L138L		Atlas-SNP	.											.	CLIP4	69	.	0			c.G414C						PASS	.	G		395,4011	196.7+/-221.0	16,363,1824	111	104	106		414	4.7	1	2	dbSNP_123	106	1947,6653	341.2+/-323.9	209,1529,2562	no	coding-synonymous	CLIP4	NM_024692.4		225,1892,4386	CC,CG,GG		22.6395,8.965,18.0071		138/706	29356567	2342,10664	2203	4300	6503	SO:0001819	synonymous_variant	79745	exon5			TGACCTGGGAGCA	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.414G>C	2.37:g.29356567G>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																			G|0.838;C|0.162	0.162	strong		0.353	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		C	29356567	G	C	29356567	2	2	22	1	0	0	0	0	0	0	0	1	3535	1335	47	4		4	CLIP4	2	29356567	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115784	29356567	213842806	1284	6392										
ALK	238	hgsc.bcm.edu	37	chr2	29416481	29416481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttctggatccgtggaccTtgtgcaactccgaaggaggg	14	9	1	0	rs1881420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29416481T>C	ENST00000389048.3	-	29	5378	c.4472A>G	c.(4471-4473)aAg>aGg	p.K1491R	ALK_ENST00000431873.1_Missense_Mutation_p.K321R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1491			K -> R (in dbSNP:rs1881420). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9053841, ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1491R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCCGTGGACCTTGTGCAACTC	0.532			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T|||	2079	0.415136	0.2405	0.4467	5008	,	,		18547	0.7312		0.2336	False		,,,				2504	0.4898				p.K1491R		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,NS,carcinoma,0,1	ALK	533	1	1	Substitution - Missense(1)	prostate(1)	c.A4472G						PASS	.		ARG/LYS	1068,3338	389.1+/-327.2	147,774,1282	113	118	116		4472	1.9	0.4	2	dbSNP_92	116	1837,6763	330.1+/-319.0	216,1405,2679	yes	missense	ALK	NM_004304.4	26	363,2179,3961	CC,CT,TT		21.3605,24.2397,22.3358	benign	1491/1621	29416481	2905,10101	2203	4300	6503	SO:0001583	missense	238	exon29	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TGGACCTTGTGCA	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4472A>G	2.37:g.29416481T>C	ENSP00000373700:p.Lys1491Arg	Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	344	161	0.468023	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	863	0.39514652014652013	114	0.23170731707317074	151	0.4171270718232044	415	0.7255244755244755	183	0.24142480211081793	t	13.96	2.391818	0.42410	0.242397	0.213605	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77489	-1.1;2.84	5.64	1.9	0.25705	.	0.124743	0.35349	U	0.003264	T	0.00012	0.0000	L	0.60455	1.87	0.51233	P	8.500000000000174E-5	B	0.02656	0.0	B	0.08055	0.003	T	0.44467	-0.9326	9	0.23302	T	0.38	.	6.8496	0.24008	0.0:0.1336:0.1271:0.7393	rs1881420;rs3738871;rs56441963;rs59805402;rs1881420	1491	Q9UM73	ALK_HUMAN	R	1491;321	ENSP00000373700:K1491R;ENSP00000414027:K321R	ENSP00000373700:K1491R	K	-	2	0	ALK	29269985	1.000000	0.71417	0.353000	0.25747	0.942000	0.58702	2.447000	0.44917	0.089000	0.17243	0.454000	0.30748	AAG	T|0.684;G|0.005	.	strong		0.532	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		C	29416481	T	C	29416481	3	2	22	1	0	0	0	0	1	0	0	0	525	1609	56	3	394	3	ALK	2	29416481	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	59914	29416481	213782892	1285	6393										
ALK	238	hgsc.bcm.edu	37	chr2	29416750	29416750	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcttccacaagtggaccAtattctatcggcaaagcggt	8	12	2	0	rs55772745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29416750A>G	ENST00000389048.3	-	29	5109	c.4203T>C	c.(4201-4203)taT>taC	p.Y1401Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1401					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAAGTGGACCATATTCTATCG	0.488			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				A|||	114	0.0227636	0.0847	0.0029	5008	,	,		17238	0.0		0.0	False		,,,				2504	0.0				p.Y1401Y		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK	533	.	0			c.T4203C						PASS	.			255,4149		7,241,1954	43	47	45		4203	-10.6	0	2	dbSNP_129	45	1,8599		0,1,4299	no	coding-synonymous	ALK	NM_004304.4		7,242,6253	GG,GA,AA		0.0116,5.7902,1.9686		1401/1621	29416750	256,12748	2202	4300	6502	SO:0001819	synonymous_variant	238	exon29	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TGGACCATATTCT	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4203T>C	2.37:g.29416750A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	133	78	0.586466	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			A|0.979;G|0.021	0.021	strong		0.488	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29416750	A	G	29416750	2	3	22	1	0	0	0	0	0	0	0	1	525	224	8	2		2	ALK	2	29416750	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	269	29416750	213782623	1286	6394										
ALK	238	hgsc.bcm.edu	37	chr2	29445425	29445425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgggtcgttgggcattccGgacacctggccttcatacac	11	13	1	0	rs56146053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:29445425G>A	ENST00000389048.3	-	21	4314	c.3408C>T	c.(3406-3408)tcC>tcT	p.S1136S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGGGCATTCCGGACACCTGGC	0.572			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				G|||	167	0.0333466	0.1225	0.0072	5008	,	,		16613	0.0		0.0	False		,,,				2504	0.0				p.S1136S		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,colon,carcinoma,0,1	ALK	533	1	0			c.C3408T						PASS	.	G		379,4027	193.0+/-218.2	13,353,1837	57	55	56		3408	-5.2	0.9	2	dbSNP_129	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALK	NM_004304.4		13,354,6136	AA,AG,GG		0.0116,8.6019,2.9217		1136/1621	29445425	380,12626	2203	4300	6503	SO:0001819	synonymous_variant	238	exon21	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CATTCCGGACACC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3408C>T	2.37:g.29445425G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	138	57	0.413043	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			G|0.970;A|0.030	0.030	strong		0.572	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29445425	G	A	29445425	2	1	22	1	0	0	0	0	0	0	0	1	525	1103	39	1		1	ALK	2	29445425	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28675	29445425	213753948	1287	6395										
ALK	238	hgsc.bcm.edu	37	chr2	30143259	30143259	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcagtccagagctagcgaGccgcgggcctcgggcctgcc	16	16	0	1	rs192127241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:30143259G>T	ENST00000389048.3	-	1	1173	c.267C>A	c.(265-267)ggC>ggA	p.G89G	ALK_ENST00000431873.1_Silent_p.G89G	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	89					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GAGCTAGCGAGCCGCGGGCCT	0.721			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				G|||	16	0.00319489	0.0113	0.0014	5008	,	,		11936	0.0		0.0	False		,,,				2504	0.0				p.G89G		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK	533	.	0			c.C267A						PASS	.	G		73,4275		0,73,2101	12	14	13		267	2.2	0.3	2		13	0,8484		0,0,4242	no	coding-synonymous	ALK	NM_004304.4		0,73,6343	TT,TG,GG		0.0,1.6789,0.5689		89/1621	30143259	73,12759	2174	4242	6416	SO:0001819	synonymous_variant	238	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TAGCGAGCCGCGG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.267C>A	2.37:g.30143259G>T		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	20	9	0.45	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			G|0.998;T|0.002	0.002	strong		0.721	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	30143259	G	T	30143259	2	4	22	1	0	0	0	0	0	0	0	1	525	958	34	4		4	ALK	2	30143259	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	697834	30143259	213056114	1288	6396										
LBH	81606	hgsc.bcm.edu	37	chr2	30457288	30457288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccccgactatctgagatCggccaagatgactgaggtga	12	11	1	5	rs144194149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:30457288C>T	ENST00000395323.3	+	2	252	c.44C>T	c.(43-45)tCg>tTg	p.S15L	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.S21L|LBH_ENST00000404397.1_Missense_Mutation_p.S15L|LBH_ENST00000407930.2_5'UTR|LBH_ENST00000406087.1_Missense_Mutation_p.S15L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	15					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TATCTGAGATCGGCCAAGATG	0.537													C|||	12	0.00239617	0.0076	0.0029	5008	,	,		20573	0.0		0.0	False		,,,				2504	0.0				p.S15L		Atlas-SNP	.											.	LBH	14	.	0			c.C44T						PASS	.	C	LEU/SER	58,4348	56.8+/-93.2	1,56,2146	138	116	124		44	4.5	1	2	dbSNP_134	124	0,8600		0,0,4300	yes	missense	LBH	NM_030915.3	145	1,56,6446	TT,TC,CC		0.0,1.3164,0.4459	possibly-damaging	15/106	30457288	58,12948	2203	4300	6503	SO:0001583	missense	81606	exon2			TGAGATCGGCCAA	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.44C>T	2.37:g.30457288C>T	ENSP00000378733:p.Ser15Leu	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	186	98	0.526882	NM_030915	B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	CCDS33173.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	21.8	4.205678	0.79127	0.013164	0.0	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506	.	.	.	4.47	4.47	0.54385	.	0.250189	0.33895	N	0.004451	T	0.51126	0.1656	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	P	0.47134	0.539	T	0.60915	-0.7168	9	0.46703	T	0.11	-7.442	14.6316	0.68660	0.0:1.0:0.0:0.0	.	15	Q53QV2	LBH_HUMAN	L	15;15;15;21	.	ENSP00000378733:S15L	S	+	2	0	LBH	30310792	0.992000	0.36948	0.990000	0.47175	0.952000	0.60782	3.080000	0.50112	2.028000	0.59812	0.455000	0.32223	TCG	C|0.996;T|0.004	0.004	strong		0.537	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		T	30457288	C	T	30457288	3	4	22	1	0	0	0	0	1	0	0	0	8650	893	31	1	50	1	LBH	2	30457288	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	314029	30457288	212742085	1289	6397										
LCLAT1	253558	hgsc.bcm.edu	37	chr2	30863092	30863092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagggaaatccactttcaCgtccaccggtatccaataga	7	14	1	1	rs12467646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:30863092C>T	ENST00000309052.4	+	7	1061	c.852C>T	c.(850-852)caC>caT	p.H284H	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Silent_p.H246H|LCLAT1_ENST00000540623.1_Silent_p.H246H	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	284					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCCACTTTCACGTCCACCGGT	0.512													C|||	842	0.168131	0.0923	0.2205	5008	,	,		18550	0.2222		0.1173	False		,,,				2504	0.2301				p.H284H		Atlas-SNP	.											.	LCLAT1	51	.	0			c.C852T						PASS	.	C	,	375,4031	190.9+/-216.7	20,335,1848	100	96	97		738,852	0.4	1	2	dbSNP_120	97	1150,7450	236.8+/-268.9	94,962,3244	no	coding-synonymous,coding-synonymous	LCLAT1	NM_001002257.1,NM_182551.3	,	114,1297,5092	TT,TC,CC		13.3721,8.5111,11.7254	,	246/377,284/415	30863092	1525,11481	2203	4300	6503	SO:0001819	synonymous_variant	253558	exon7			CTTTCACGTCCAC	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.852C>T	2.37:g.30863092C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	141	68	0.482269	NM_182551	A6H8Z7|Q8N1Q7	Silent	SNP	ENST00000309052.4	37	CCDS1772.1																																																																																			C|0.872;T|0.128	0.128	strong		0.512	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		T	30863092	C	T	30863092	2	4	22	1	0	0	0	0	0	0	0	1	8677	535	19	1		1	LCLAT1	2	30863092	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	405804	30863092	212336281	1290	6398										
LCLAT1	253558	hgsc.bcm.edu	37	chr2	30863108	30863108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacgtccaccggtatccaAtagacaccctccccacatcc	4	19	1	1	rs12471868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:30863108A>G	ENST00000309052.4	+	7	1077	c.868A>G	c.(868-870)Ata>Gta	p.I290V	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.I252V|LCLAT1_ENST00000540623.1_Missense_Mutation_p.I252V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	290			I -> V (in dbSNP:rs12471868).		cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCGGTATCCAATAGACACCCT	0.512													A|||	844	0.16853	0.0923	0.2205	5008	,	,		19969	0.2232		0.1183	False		,,,				2504	0.2301				p.I290V		Atlas-SNP	.											.	LCLAT1	51	.	0			c.A868G						PASS	.	A	VAL/ILE,VAL/ILE	375,4031	190.9+/-216.7	20,335,1848	93	88	89		754,868	-7	0	2	dbSNP_120	89	1150,7450	236.8+/-268.9	94,962,3244	yes	missense,missense	LCLAT1	NM_001002257.1,NM_182551.3	29,29	114,1297,5092	GG,GA,AA		13.3721,8.5111,11.7254	benign,benign	252/377,290/415	30863108	1525,11481	2203	4300	6503	SO:0001583	missense	253558	exon7			TATCCAATAGACA	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.868A>G	2.37:g.30863108A>G	ENSP00000310551:p.Ile290Val	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_182551	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	331	0.15155677655677655	41	0.08333333333333333	74	0.20441988950276244	119	0.20804195804195805	97	0.1279683377308707	A	0.008	-1.886745	0.00527	0.085111	0.133721	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.53640	0.61;0.61;0.61	5.77	-6.96	0.01622	.	0.419198	0.27126	N	0.020818	T	0.00012	0.0000	N	0.10664	0.02	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.21861	-1.0233	9	0.13108	T	0.6	-1.6084	12.2763	0.54737	0.2097:0.0:0.7143:0.076	rs12471868;rs52802369;rs61598697;rs12471868	290	Q6UWP7	LCLT1_HUMAN	V	252;252;290;252	ENSP00000368823:I252V;ENSP00000310551:I290V;ENSP00000442857:I252V	ENSP00000310551:I290V	I	+	1	0	LCLAT1	30716612	0.023000	0.18921	0.000000	0.03702	0.048000	0.14542	0.249000	0.18216	-1.202000	0.02655	-0.379000	0.06801	ATA	A|0.870;G|0.130	0.130	strong		0.512	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		G	30863108	A	G	30863108	3	3	22	1	0	0	0	0	1	0	0	0	8677	101	4	2	890	2	LCLAT1	2	30863108	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	30863108	212336265	1291	6399										
XDH	7498	hgsc.bcm.edu	37	chr2	31598339	31598339	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcaccggaagtccaccatGccaccaggggcatcgggagg	15	13	0	0	rs45612839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:31598339G>C	ENST00000379416.3	-	15	1557	c.1509C>G	c.(1507-1509)ggC>ggG	p.G503G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	503					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGTCCACCATGCCACCAGGGG	0.602													G|||	314	0.0626997	0.2277	0.0159	5008	,	,		17654	0.0		0.002	False		,,,				2504	0.0				p.G503G	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.C1509G						PASS	.	G		857,3549	338.1+/-305.1	72,713,1418	86	80	82		1509	2.4	1	2	dbSNP_127	82	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	XDH	NM_000379.3		72,720,5711	CC,CG,GG		0.0814,19.4507,6.6431		503/1334	31598339	864,12142	2203	4300	6503	SO:0001819	synonymous_variant	7498	exon15			CACCATGCCACCA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1509C>G	2.37:g.31598339G>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	118	55	0.466102	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																			G|0.936;C|0.064	0.064	strong		0.602	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		C	31598339	G	C	31598339	2	2	22	1	0	0	0	0	0	0	0	1	17423	1306	46	4		4	XDH	2	31598339	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	735231	31598339	211601034	1292	6400										
XDH	7498	hgsc.bcm.edu	37	chr2	31610701	31610701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactctgggggaaaaatgggCtcctgggttggatccagggg	17	7	1	0	rs45575032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:31610701C>T	ENST00000379416.3	-	8	675	c.627G>A	c.(625-627)gaG>gaA	p.E209E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	209					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAAAAATGGGCTCCTGGGTTG	0.527													C|||	202	0.0403355	0.0151	0.0245	5008	,	,		18325	0.0575		0.0348	False		,,,				2504	0.0736				p.E209E	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.G627A						PASS	.	C		73,4331		1,71,2130	33	31	31		627	0.7	1	2	dbSNP_127	31	211,8385		1,209,4088	no	coding-synonymous	XDH	NM_000379.3		2,280,6218	TT,TC,CC		2.4546,1.6576,2.1846		209/1334	31610701	284,12716	2202	4298	6500	SO:0001819	synonymous_variant	7498	exon8			AATGGGCTCCTGG	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.627G>A	2.37:g.31610701C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	42	15	0.357143	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																			C|0.972;T|0.028	0.028	strong		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		T	31610701	C	T	31610701	2	4	22	1	0	0	0	0	0	0	0	1	17423	796	28	2		2	XDH	2	31610701	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12362	31610701	211588672	1293	6401										
XDH	7498	hgsc.bcm.edu	37	chr2	31611143	31611143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttggattattcccatctcCtccacagcatccaccatcct	3	16	1	0	rs45523133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:31611143C>T	ENST00000379416.3	-	7	562	c.514G>A	c.(514-516)Gga>Aga	p.G172R	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	172			G -> R (in dbSNP:rs45523133). {ECO:0000269|PubMed:8135849, ECO:0000269|Ref.6}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TTCCCATCTCCTCCACAGCAT	0.433													C|||	202	0.0403355	0.0151	0.0245	5008	,	,		21582	0.0575		0.0348	False		,,,				2504	0.0736				p.G172R	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.G514A	GRCh37	CM086585	XDH	M	rs45523133	PASS	.	C	ARG/GLY	74,4332	66.4+/-103.9	1,72,2130	145	129	134		514	5.4	1	2	dbSNP_127	134	224,8376	93.3+/-155.3	2,220,4078	yes	missense	XDH	NM_000379.3	125	3,292,6208	TT,TC,CC		2.6047,1.6795,2.2913	benign	172/1334	31611143	298,12708	2203	4300	6503	SO:0001583	missense	7498	exon7			CATCTCCTCCACA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.514G>A	2.37:g.31611143C>T	ENSP00000368727:p.Gly172Arg	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	154	79	0.512987	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	87	0.03983516483516483	4	0.008130081300813009	12	0.03314917127071823	46	0.08041958041958042	25	0.032981530343007916	C	13.67	2.305294	0.40795	0.016795	0.026047	ENSG00000158125	ENST00000379416	T	0.54071	0.59	5.4	5.4	0.78164	[2Fe-2S]-binding (2);Xanthine dehydrogenase, small subunit (1);	0.051706	0.85682	D	0.000000	T	0.06600	0.0169	M	0.91972	3.26	0.58432	D	0.999997	B	0.17268	0.021	B	0.21917	0.037	T	0.35574	-0.9783	10	0.16420	T	0.52	.	10.5522	0.45095	0.0:0.9115:0.0:0.0885	rs45523133	172	P47989	XDH_HUMAN	R	172	ENSP00000368727:G172R	ENSP00000368727:G172R	G	-	1	0	XDH	31464647	0.638000	0.27225	0.998000	0.56505	0.073000	0.16967	1.791000	0.38744	2.700000	0.92200	0.563000	0.77884	GGA	C|0.972;T|0.028	0.028	strong		0.433	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		T	31611143	C	T	31611143	3	4	22	1	0	0	0	0	1	0	0	0	17423	690	24	2	3607	2	XDH	2	31611143	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	442	31611143	211588230	1294	6402										
NLRC4	58484	hgsc.bcm.edu	37	chr2	32463353	32463353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaataaacacatcttcttcAggtttttcaggccttcagct	6	10	5	0	rs202095832		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32463353A>G	ENST00000404025.2	-	7	2857	c.2369T>C	c.(2368-2370)cTg>cCg	p.L790P	NLRC4_ENST00000360906.5_Missense_Mutation_p.L790P|NLRC4_ENST00000402280.1_Missense_Mutation_p.L790P|NLRC4_ENST00000342905.6_Missense_Mutation_p.L125P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	790					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCTTCTTCAGGTTTTTCAG	0.368													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19319	0.0		0.0	False		,,,				2504	0.0				p.L790P		Atlas-SNP	.											.	NLRC4	165	.	0			c.T2369C						PASS	.	A	PRO/LEU,PRO/LEU,PRO/LEU	3,4403	6.2+/-15.9	0,3,2200	101	101	101		2369,2369,2369	4.6	0.9	2		101	0,8600		0,0,4300	no	missense,missense,missense	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	98,98,98	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging	790/1025,790/1025,790/1025	32463353	3,13003	2203	4300	6503	SO:0001583	missense	58484	exon6			TTCTTCAGGTTTT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2369T>C	2.37:g.32463353A>G	ENSP00000385090:p.Leu790Pro	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	113	61	0.539823	NM_001199138	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846213	0.32606	6.81E-4	0.0	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.63	4.63	0.57726	.	0.000000	0.31949	N	0.006818	T	0.64527	0.2606	M	0.63843	1.955	0.34053	D	0.656327	D;D	0.71674	0.998;0.994	D;P	0.65874	0.939;0.879	T	0.71251	-0.4648	9	0.34782	T	0.22	-3.8349	10.6228	0.45489	1.0:0.0:0.0:0.0	.	125;790	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	P	790;790;125;790	ENSP00000354159:L790P;ENSP00000385428:L790P;ENSP00000339666:L125P;ENSP00000385090:L790P	ENSP00000339666:L125P	L	-	2	0	NLRC4	32316857	0.984000	0.35163	0.947000	0.38551	0.111000	0.19643	1.992000	0.40737	2.088000	0.63022	0.533000	0.62120	CTG	.	.	weak		0.368	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		G	32463353	A	G	32463353	3	3	22	1	0	0	0	0	1	0	0	0	10469	188	7	3	721	3	NLRC4	2	32463353	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	852210	32463353	210736020	1295	6403										
NLRC4	58484	hgsc.bcm.edu	37	chr2	32475109	32475109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagtttaatgaagtccagGgcacttgcacaattgggcaa	10	9	0	1	rs455060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32475109G>A	ENST00000404025.2	-	5	2312	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	NLRC4_ENST00000360906.5_Silent_p.A608A|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.A608A			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	608					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A608A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAGTCCAGGGCACTTGCAC	0.433													A|||	2966	0.592252	0.7201	0.6556	5008	,	,		19989	0.4633		0.6173	False		,,,				2504	0.4816				p.A608A		Atlas-SNP	.											NLRC4,NS,carcinoma,0,1	NLRC4	165	1	1	Substitution - coding silent(1)	stomach(1)	c.C1824T						PASS	.	A	,,	2993,1413	462.6+/-353.3	1022,949,232	125	135	132		1824,1824,1824	-5.5	0.8	2	dbSNP_80	132	5197,3403	502.2+/-375.6	1574,2049,677	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	,,	2596,2998,909	AA,AG,GG		39.5698,32.0699,37.0291	,,	608/1025,608/1025,608/1025	32475109	8190,4816	2203	4300	6503	SO:0001819	synonymous_variant	58484	exon4			GTCCAGGGCACTT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1824C>T	2.37:g.32475109G>A		Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	178	178	1	NM_001199138	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																			G|0.383;A|0.617	0.617	strong		0.433	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		A	32475109	G	A	32475109	2	1	22	1	0	0	0	0	0	0	0	1	10469	1219	43	2		2	NLRC4	2	32475109	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11756	32475109	210724264	1296	6404										
NLRC4	58484	hgsc.bcm.edu	37	chr2	32476390	32476390	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccccagagcatggcaatTcgctgcagcagagtggactt	13	11	0	2	rs408813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32476390T>G	ENST00000404025.2	-	5	1031	c.543A>C	c.(541-543)cgA>cgC	p.R181R	NLRC4_ENST00000360906.5_Silent_p.R181R|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.R181R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.R181R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCATGGCAATTCGCTGCAGCA	0.562													T|||	2582	0.515575	0.6067	0.5922	5008	,	,		18573	0.3562		0.6074	False		,,,				2504	0.408				p.R181R		Atlas-SNP	.											NLRC4_ENST00000404025,NS,carcinoma,-1,4	NLRC4	165	4	1	Substitution - coding silent(1)	stomach(1)	c.A543C						PASS	.	T	,,	2537,1869	631.1+/-395.6	736,1065,402	70	70	70		543,543,543	2.1	1	2	dbSNP_80	70	5106,3494	634.0+/-398.8	1519,2068,713	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	,,	2255,3133,1115	GG,GT,TT		40.6279,42.4194,41.2348	,,	181/1025,181/1025,181/1025	32476390	7643,5363	2203	4300	6503	SO:0001819	synonymous_variant	58484	exon4			GGCAATTCGCTGC	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.543A>C	2.37:g.32476390T>G		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	196	195	0.994898	NM_001199138	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																			T|0.422;G|0.578	0.578	strong		0.562	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		G	32476390	T	G	32476390	2	3	22	1	0	0	0	0	0	0	0	1	10469	1770	62	5		5	NLRC4	2	32476390	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1281	32476390	210722983	1297	6405										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32673884	32673884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatggattatatagctcaccAtttgatccagtcctctttga	6	9	2	2	rs150651833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32673884A>G	ENST00000421745.2	+	22	4640	c.4506A>G	c.(4504-4506)ccA>ccG	p.P1502P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1502					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)					ATAGCTCACCATTTGATCCAG	0.318													A|||	9	0.00179712	0.0061	0.0014	5008	,	,		14704	0.0		0.0	False		,,,				2504	0.0				p.P1502P	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.A4506G						PASS	.	A		24,4382	30.8+/-60.4	0,24,2179	120	123	122		4506	-3.2	1	2	dbSNP_134	122	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	BIRC6	NM_016252.3		0,28,6475	GG,GA,AA		0.0465,0.5447,0.2153		1502/4858	32673884	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	57448	exon22			CTCACCATTTGAT	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.4506A>G	2.37:g.32673884A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	136	57	0.419118	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																			A|0.998;G|0.002	0.002	strong		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32673884	A	G	32673884	2	3	22	1	0	0	0	0	0	0	0	1	1438	204	8	2		2	BIRC6	2	32673884	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	197494	32673884	210525489	1298	6406										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32713706	32713706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcctgaattctagttcaActggaaacaaagaaaatgga	9	6	2	3	rs2366894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32713706A>T	ENST00000421745.2	+	42	8154	c.8020A>T	c.(8020-8022)Act>Tct	p.T2674S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2674				T -> S (in Ref. 2; AAF75772). {ECO:0000305}.	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)	p.T2674S(1)		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)					TTCTAGTTCAACTGGAAACAA	0.308													T|||	2809	0.560903	0.708	0.6398	5008	,	,		15225	0.3433		0.6412	False		,,,				2504	0.4479				p.T2674S	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											BIRC6_ENST00000421745,NS,carcinoma,0,3	BIRC6	838	3	1	Substitution - Missense(1)	stomach(1)	c.A8020T						PASS	.	T	SER/THR	2989,1255		1089,811,222	24	23	23		8020	4.5	1	2	dbSNP_100	23	5250,3014		1754,1742,636	yes	missense	BIRC6	NM_016252.3	58	2843,2553,858	TT,TA,AA		36.4714,29.5712,34.1302	benign	2674/4858	32713706	8239,4269	2122	4132	6254	SO:0001583	missense	57448	exon42			AGTTCAACTGGAA	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.8020A>T	2.37:g.32713706A>T	ENSP00000393596:p.Thr2674Ser	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	204	204	1	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	1262	0.5778388278388278	330	0.6707317073170732	246	0.6795580110497238	209	0.36538461538461536	477	0.6292875989445911	T	3.123	-0.180114	0.06380	0.704288	0.635286	ENSG00000115760	ENST00000421745	T	0.73047	-0.71	5.67	4.48	0.54585	.	0.216003	0.40469	N	0.001086	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	9	0.02654	T	1	.	7.3633	0.26758	0.2499:0.0:0.1305:0.6196	rs2366894;rs52828077;rs2366894	2674	Q9NR09	BIRC6_HUMAN	S	2674	ENSP00000393596:T2674S	ENSP00000393596:T2674S	T	+	1	0	BIRC6	32567210	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	1.242000	0.32755	0.402000	0.25451	-0.257000	0.10917	ACT	A|0.424;T|0.576	0.576	strong		0.308	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32713706	A	T	32713706	3	4	22	1	0	0	0	0	1	0	0	0	1438	43	2	5	8186	5	BIRC6	2	32713706	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39822	32713706	210485667	1299	6407										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32740349	32740349	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcttctcaatctcctGaagctattaaacaattacta	2	12	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32740349G>C	ENST00000421745.2	+	55	10995	c.10861G>C	c.(10861-10863)Gaa>Caa	p.E3621Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3621					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)	p.E3621Q(1)|p.E3593Q(1)		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)					TCAATCTCCTGAAGCTATTAA	0.408																																					p.E3621Q	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											BIRC6_ENST00000421745,NS,carcinoma,0,2	BIRC6	838	2	2	Substitution - Missense(2)	lung(2)	c.G10861C						scavenged	.						107	106	106					2																	32740349		2203	4300	6503	SO:0001583	missense	57448	exon55			TCTCCTGAAGCTA	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.10861G>C	2.37:g.32740349G>C	ENSP00000393596:p.Glu3621Gln	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602473	0.28534	.	.	ENSG00000115760	ENST00000421745	T	0.74106	-0.81	5.44	5.44	0.79542	.	0.128654	0.53938	D	0.000043	T	0.64864	0.2637	L	0.31294	0.92	0.45946	D	0.998779	B	0.14438	0.01	B	0.08055	0.003	T	0.59005	-0.7535	10	0.17369	T	0.5	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3621	Q9NR09	BIRC6_HUMAN	Q	3621	ENSP00000393596:E3621Q	ENSP00000393596:E3621Q	E	+	1	0	BIRC6	32593853	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.662000	0.83803	2.563000	0.86464	0.585000	0.79938	GAA	.	.	none		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32740349	G	C	32740349	3	2	22	1	0	0	0	0	1	0	0	0	1438	1291	45	4	11079	4	BIRC6	2	32740349	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26643	32740349	210459024	1300	6408										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32822957	32822957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcccaggaagctgtgacGctttcaacctcactgcctct	8	15	3	1	rs2710625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:32822957G>A	ENST00000421745.2	+	69	13886	c.13752G>A	c.(13750-13752)acG>acA	p.T4584T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4584	Ubiquitin-conjugating.				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)	p.T4584T(1)|p.T4556T(1)		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)					AAGCTGTGACGCTTTCAACCT	0.438													A|||	1667	0.332867	0.3207	0.3674	5008	,	,		15901	0.2956		0.4344	False		,,,				2504	0.2587				p.T4584T	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											BIRC6_ENST00000421745,NS,carcinoma,0,2	BIRC6	838	2	2	Substitution - coding silent(2)	stomach(2)	c.G13752A						PASS	.	A		1392,3014	688.7+/-405.0	208,976,1019	122	100	108		13752	-9.8	0	2	dbSNP_100	108	3646,4954	623.3+/-397.4	773,2100,1427	no	coding-synonymous	BIRC6	NM_016252.3		981,3076,2446	AA,AG,GG		42.3953,31.5933,38.736		4584/4858	32822957	5038,7968	2203	4300	6503	SO:0001819	synonymous_variant	57448	exon69			TGTGACGCTTTCA	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.13752G>A	2.37:g.32822957G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	67	25	0.373134	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																			G|0.624;A|0.376	0.376	strong		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32822957	G	A	32822957	2	1	22	1	0	0	0	0	0	0	0	1	1438	1074	38	1		1	BIRC6	2	32822957	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82608	32822957	210376416	1301	6409										
RASGRP3	25780	hgsc.bcm.edu	37	chr2	33774761	33774761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggaccaggatttatccaTaattttcaggagatgaccta	9	7	1	2	rs2276590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:33774761T>C	ENST00000403687.3	+	14	2225	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	RASGRP3_ENST00000407811.1_Silent_p.H494H|RASGRP3_ENST00000402538.3_Silent_p.H495H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	495					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.H495H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GATTTATCCATAATTTTCAGG	0.398													T|||	675	0.134784	0.1543	0.0432	5008	,	,		20953	0.3095		0.007	False		,,,				2504	0.1247				p.H495H		Atlas-SNP	.											RASGRP3,NS,carcinoma,0,1	RASGRP3	87	1	1	Substitution - coding silent(1)	stomach(1)	c.T1485C						scavenged	.	T	,,	464,3262		22,420,1421	160	142	147		1485,1482,1485	2.5	1	2	dbSNP_100	147	34,8192		0,34,4079	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRP3	NM_001139488.1,NM_015376.2,NM_170672.2	,,	22,454,5500	CC,CT,TT		0.4133,12.453,4.1667	,,	495/691,494/690,495/691	33774761	498,11454	1863	4113	5976	SO:0001819	synonymous_variant	25780	exon15			TATCCATAATTTT	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1485T>C	2.37:g.33774761T>C		Somatic	322	2	0.00621118		WXS	Illumina HiSeq	Phase_I	313	134	0.428115	NM_170672	D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	CCDS46256.1																																																																																			T|0.872;C|0.128	0.128	strong		0.398	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		C	33774761	T	C	33774761	2	2	22	1	0	0	0	0	0	0	0	1	13076	1403	49	2		2	RASGRP3	2	33774761	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	951804	33774761	209424612	1302	6410										
CRIM1	51232	hgsc.bcm.edu	37	chr2	36691680	36691680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttctttggtttcagatgCgagtgtctctctggcttatg	10	8	4	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:36691680C>T	ENST00000280527.2	+	5	1240	c.873C>T	c.(871-873)tgC>tgT	p.C291C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	291					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C291C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAGATGCGAGTGTCTCT	0.507																																					p.C291C		Atlas-SNP	.											CRIM1,caecum,carcinoma,0,1	CRIM1	88	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C873T						scavenged	.						194	178	184					2																	36691680		2203	4300	6503	SO:0001819	synonymous_variant	51232	exon5			CAGATGCGAGTGT	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.873C>T	2.37:g.36691680C>T		Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	323	4	0.0123839	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																			.	.	none		0.507	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		T	36691680	C	T	36691680	2	4	22	1	0	0	0	0	0	0	0	1	3873	776	27	1		1	CRIM1	2	36691680	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2916919	36691680	206507693	1303	6411										
FEZ2	9637	hgsc.bcm.edu	37	chr2	36810586	36810586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagctcttcatcatctgaTgtatcaaagagcaaactgtc	6	11	6	2	rs14291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:36810586T>C	ENST00000405912.3	-	3	401	c.402A>G	c.(400-402)acA>acG	p.T134T	FEZ2_ENST00000305852.7_5'UTR|FEZ2_ENST00000379245.4_Silent_p.T134T	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	134					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				CATCATCTGATGTATCAAAGA	0.403													C|||	2147	0.428714	0.4478	0.5144	5008	,	,		21080	0.4147		0.4115	False		,,,				2504	0.3742				p.T134T		Atlas-SNP	.											.	FEZ2	13	.	0			c.A402G						PASS	.	C	,	1709,2153		369,971,591	132	125	127		402,402	-11.3	0	2	dbSNP_52	127	3043,5251		542,1959,1646	yes	coding-synonymous,coding-synonymous	FEZ2	NM_001042548.1,NM_005102.2	,	911,2930,2237	CC,CT,TT		36.6892,44.2517,39.0918	,	134/381,134/354	36810586	4752,7404	1931	4147	6078	SO:0001819	synonymous_variant	9637	exon3			ATCTGATGTATCA	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.402A>G	2.37:g.36810586T>C		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_001042548	Q5EBN3|Q76LN0|Q99690	Silent	SNP	ENST00000405912.3	37	CCDS46257.1																																																																																			T|0.567;C|0.433	0.433	strong		0.403	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			C	36810586	T	C	36810586	2	2	22	1	0	0	0	0	0	0	0	1	5824	1451	51	2		2	FEZ2	2	36810586	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	118906	36810586	206388787	1304	6412										
VIT	5212	hgsc.bcm.edu	37	chr2	37035866	37035866	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatttccgacacggacacGcgcatcggggccgtgcagta	14	12	0	1	rs36048308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37035866G>T	ENST00000389975.3	+	14	1898	c.1596G>T	c.(1594-1596)acG>acT	p.T532T	VIT_ENST00000497382.1_Silent_p.T201T|VIT_ENST00000379241.3_Silent_p.T510T|VIT_ENST00000401530.1_Silent_p.T511T|VIT_ENST00000404084.1_Silent_p.T484T|VIT_ENST00000379242.3_Silent_p.T547T	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	532	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACACGGACACGCGCATCGGGG	0.582													G|||	359	0.0716853	0.2458	0.0274	5008	,	,		21942	0.0079		0.001	False		,,,				2504	0.0061				p.T547T		Atlas-SNP	.											.	VIT	138	.	0			c.G1641T						PASS	.	G	,,,	1007,3399	374.4+/-321.2	116,775,1312	81	78	79		1596,1533,1530,1641	-9.3	0	2	dbSNP_126	79	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	,,,	116,803,5584	TT,TG,GG		0.3256,22.8552,7.9579	,,,	532/679,511/658,510/657,547/694	37035866	1035,11971	2203	4300	6503	SO:0001819	synonymous_variant	5212	exon15			GGACACGCGCATC	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1596G>T	2.37:g.37035866G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	128	67	0.523438	NM_053276	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	CCDS54347.1																																																																																			G|0.925;T|0.075	0.075	strong		0.582	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				T	37035866	G	T	37035866	2	4	22	1	0	0	0	0	0	0	0	1	17168	1074	38	4		4	VIT	2	37035866	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	225280	37035866	206163507	1305	6413										
VIT	5212	hgsc.bcm.edu	37	chr2	37041439	37041439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacgagtttgacaacctcCatcagtatgtccccaggatc	9	12	1	1	rs11901202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37041439C>T	ENST00000389975.3	+	15	2274	c.1972C>T	c.(1972-1974)Cat>Tat	p.H658Y	VIT_ENST00000497382.1_Missense_Mutation_p.H327Y|VIT_ENST00000379241.3_Missense_Mutation_p.H636Y|VIT_ENST00000401530.1_Missense_Mutation_p.H637Y|VIT_ENST00000404084.1_Missense_Mutation_p.H610Y|VIT_ENST00000379242.3_Missense_Mutation_p.H673Y	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	658	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.		H -> Y (in dbSNP:rs11901202). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.H673N(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGACAACCTCCATCAGTATGT	0.532													T|||	595	0.11881	0.1558	0.0403	5008	,	,		20134	0.1806		0.0139	False		,,,				2504	0.1687				p.H673Y		Atlas-SNP	.											VIT,mouth,carcinoma,0,1	VIT	138	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C2017T						PASS	.	T	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS	616,3790	769.0+/-413.6	33,550,1620	129	111	117		1972,1909,1906,2017	4.3	1	2	dbSNP_120	117	18,8582	818.5+/-406.9	0,18,4282	yes	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	83,83,83,83	33,568,5902	TT,TC,CC		0.2093,13.9809,4.8747	benign,benign,benign,benign	658/679,637/658,636/657,673/694	37041439	634,12372	2203	4300	6503	SO:0001583	missense	5212	exon16			AACCTCCATCAGT	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1972C>T	2.37:g.37041439C>T	ENSP00000374625:p.His658Tyr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	53	0.546392	NM_053276	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	170	0.07783882783882784	63	0.12804878048780488	4	0.011049723756906077	95	0.1660839160839161	8	0.010554089709762533	T	3.916	-0.019047	0.07634	0.139809	0.002093	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.41	4.26	0.50523	von Willebrand factor, type A (3);	0.120226	0.64402	N	0.000017	T	0.00241	0.0007	N	0.08118	0	0.54753	P	1.8999999999991246E-5	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.05451	-1.0884	9	0.56958	D	0.05	-11.8809	5.7221	0.17992	0.0:0.145:0.1421:0.7129	rs11901202;rs56608660;rs11901202	637;636;658;673	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Y	673;658;327;610;636;637	ENSP00000368544:H673Y;ENSP00000374625:H658Y;ENSP00000417874:H327Y;ENSP00000384154:H610Y;ENSP00000368543:H636Y;ENSP00000385658:H637Y	ENSP00000368543:H636Y	H	+	1	0	VIT	36894943	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	2.303000	0.43646	0.377000	0.24735	-0.254000	0.11334	CAT	C|0.932;T|0.068	0.068	strong		0.532	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				T	37041439	C	T	37041439	3	4	22	1	0	0	0	0	1	0	0	0	17168	594	21	2	2200	2	VIT	2	37041439	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5573	37041439	206157934	1306	6414										
HEATR5B	54497	hgsc.bcm.edu	37	chr2	37280711	37280711	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggcggacacctttagcTtgtttaacacattcagcaaa	8	10	1	0	rs10202107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37280711T>C	ENST00000233099.5	-	17	2534	c.2439A>G	c.(2437-2439)caA>caG	p.Q813Q	HEATR5B_ENST00000354531.2_Silent_p.Q813Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	813						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACCTTTAGCTTGTTTAACAC	0.313													T|||	56	0.0111821	0.0416	0.0014	5008	,	,		17495	0.0		0.0	False		,,,				2504	0.0				p.Q813Q		Atlas-SNP	.											.	HEATR5B	185	.	0			c.A2439G						PASS	.	T		121,4285	91.1+/-129.8	2,117,2084	56	57	57		2439	2.3	1	2	dbSNP_119	57	0,8600		0,0,4300	no	coding-synonymous	HEATR5B	NM_019024.1		2,117,6384	CC,CT,TT		0.0,2.7463,0.9303		813/2072	37280711	121,12885	2203	4300	6503	SO:0001819	synonymous_variant	54497	exon17			TTTAGCTTGTTTA	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2439A>G	2.37:g.37280711T>C		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	196	101	0.515306	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																			T|0.989;C|0.011	0.011	strong		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		C	37280711	T	C	37280711	2	2	22	1	0	0	0	0	0	0	0	1	7032	1606	56	3		3	HEATR5B	2	37280711	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	239272	37280711	205918662	1307	6415										
EIF2AK2	5610	hgsc.bcm.edu	37	chr2	37353464	37353464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaacacgtttaataacgtaAgtctttccgtcaattctgtg	6	8	3	0	rs2307478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37353464A>G	ENST00000233057.4	-	11	1198	c.876T>C	c.(874-876)acT>acC	p.T292T	EIF2AK2_ENST00000395127.2_Silent_p.T292T|EIF2AK2_ENST00000405334.1_Intron	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	292	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TAATAACGTAAGTCTTTCCGT	0.313													A|||	82	0.0163738	0.0613	0.0014	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.0				p.T292T		Atlas-SNP	.											.	EIF2AK2	54	.	0			c.T876C						PASS	.	A	,,	237,4169	141.1+/-176.5	6,225,1972	95	93	93		876,,876	-2.7	0	2	dbSNP_100	93	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron,coding-synonymous	EIF2AK2	NM_001135651.1,NM_001135652.1,NM_002759.2	,,	6,226,6270	GG,GA,AA		0.0116,5.379,1.8302	,,	292/552,,292/552	37353464	238,12766	2203	4299	6502	SO:0001819	synonymous_variant	5610	exon11			AACGTAAGTCTTT	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.876T>C	2.37:g.37353464A>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	152	79	0.519737	NM_001135651	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Silent	SNP	ENST00000233057.4	37	CCDS1786.1																																																																																			A|0.985;G|0.015	0.015	strong		0.313	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		G	37353464	A	G	37353464	2	3	22	1	0	0	0	0	0	0	0	1	4997	59	3	3		3	EIF2AK2	2	37353464	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72753	37353464	205845909	1308	6416										
SULT6B1	391365	hgsc.bcm.edu	37	chr2	37406645	37406645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaattcatcccaagagccaTagcttggaatatcggggaca	10	9	1	2	rs61737618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37406645T>C	ENST00000535679.1	-	4	484	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Y124C|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Y124C			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	162						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCAAGAGCCATAGCTTGGAAT	0.378													T|||	9	0.00179712	0.0068	0.0	5008	,	,		19591	0.0		0.0	False		,,,				2504	0.0				p.Y124C		Atlas-SNP	.											.	SULT6B1	46	.	0			c.A371G						PASS	.	T	CYS/TYR	33,4373	38.4+/-70.7	0,33,2170	161	151	154		371	3	1	2	dbSNP_129	154	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SULT6B1	NM_001032377.1	194	0,34,6469	CC,CT,TT		0.0116,0.749,0.2614	probably-damaging	124/266	37406645	34,12972	2203	4300	6503	SO:0001583	missense	391365	exon4			GAGCCATAGCTTG	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.485A>G	2.37:g.37406645T>C	ENSP00000444081:p.Tyr162Cys	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001032377	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	15.08	2.726804	0.48833	0.00749	1.16E-4	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	D;D;D	0.82167	-1.58;-1.58;-1.58	4.27	3.02	0.34903	Sulfotransferase domain (1);	1.254540	0.05257	N	0.515113	D	0.86522	0.5953	M	0.73372	2.23	0.40291	D	0.9785	D	0.71674	0.998	D	0.65443	0.935	T	0.81870	-0.0734	10	0.40728	T	0.16	.	9.6717	0.40017	0.1561:0.0:0.0:0.8439	.	162	Q6IMI4	ST6B1_HUMAN	C	162;124;124	ENSP00000444081:Y162C;ENSP00000260637:Y124C;ENSP00000384950:Y124C	ENSP00000260637:Y124C	Y	-	2	0	SULT6B1	37260149	0.715000	0.27946	0.981000	0.43875	0.855000	0.48748	0.833000	0.27504	1.928000	0.55862	0.459000	0.35465	TAT	T|0.997;C|0.003	0.003	strong		0.378	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		C	37406645	T	C	37406645	3	2	22	1	0	0	0	0	1	0	0	0	15381	1406	49	2	442	2	SULT6B1	2	37406645	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53181	37406645	205792728	1309	6417										
CEBPZ	10153	hgsc.bcm.edu	37	chr2	37454998	37454998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatgggacagagccatttgAtttaaaaagcaaattgcata	8	6	1	2	rs1803251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37454998A>G	ENST00000234170.5	-	2	1483	c.1338T>C	c.(1336-1338)aaT>aaC	p.N446N		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	446					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGCCATTTGATTTAAAAAGC	0.343													A|||	451	0.0900559	0.32	0.0389	5008	,	,		21260	0.0		0.001	False		,,,				2504	0.0				p.N446N		Atlas-SNP	.											.	CEBPZ	68	.	0			c.T1338C						PASS	.	A		1241,3163	393.3+/-328.8	184,873,1145	69	70	70		1338	3	1	2	dbSNP_89	70	15,8585	8.4+/-32.0	0,15,4285	no	coding-synonymous	CEBPZ	NM_005760.2		184,888,5430	GG,GA,AA		0.1744,28.1789,9.6586		446/1055	37454998	1256,11748	2202	4300	6502	SO:0001819	synonymous_variant	10153	exon2			CATTTGATTTAAA	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1338T>C	2.37:g.37454998A>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	68	36	0.529412	NM_005760	Q8NE75	Silent	SNP	ENST00000234170.5	37	CCDS1787.1																																																																																			A|0.912;G|0.088	0.088	strong		0.343	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		G	37454998	A	G	37454998	2	3	22	1	0	0	0	0	0	0	0	1	3204	330	12	2		2	CEBPZ	2	37454998	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48353	37454998	205744375	1310	6418										
C2orf56	55471	hgsc.bcm.edu	37	chr2	37459308	37459308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatgagcctgcagaaaacCcggtgacgccgatgctgcgg	15	11	0	3	rs2714473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37459308C>G	ENST00000002125.4	+	2	155	c.115C>G	c.(115-117)Ccg>Gcg	p.P39A	CEBPZ_ENST00000234170.5_5'Flank|NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.P39A	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	39			P -> A (in dbSNP:rs2714473).		methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										TGCAGAAAACCCGGTGACGCC	0.463													C|||	361	0.0720847	0.2564	0.0303	5008	,	,		19737	0.0		0.001	False		,,,				2504	0.0				p.P39A		Atlas-SNP	.											.	.	.	.	0			c.C115G						PASS	.	C	ALA/PRO,ALA/PRO	982,3424	366.1+/-317.7	113,756,1334	110	105	107		115,115	2.7	0	2	dbSNP_100	107	14,8586	8.4+/-32.0	0,14,4286	yes	missense,missense	C2orf56	NM_001083946.1,NM_144736.4	27,27	113,770,5620	GG,GC,CC		0.1628,22.2878,7.658	benign,benign	39/344,39/442	37459308	996,12010	2203	4300	6503	SO:0001583	missense	55471	exon2			GAAAACCCGGTGA		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.115C>G	2.37:g.37459308C>G	ENSP00000002125:p.Pro39Ala	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_001083946	Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	107	0.04899267399267399	98	0.1991869918699187	9	0.024861878453038673	0	0.0	0	0.0	C	7.698	0.692572	0.15039	0.222878	0.001628	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.40225	1.05;1.04	5.51	2.68	0.31781	.	1.761130	0.02616	N	0.102632	T	0.00012	0.0000	N	0.05467	-0.045	0.80722	P	0.0	B;B;B;B	0.15930	0.001;0.009;0.015;0.0	B;B;B;B	0.12837	0.003;0.004;0.008;0.004	T	0.17745	-1.0359	9	0.08599	T	0.76	0.7393	3.0899	0.06290	0.2362:0.4978:0.1281:0.1379	rs2714473;rs52835713;rs2714473	39;39;39;39	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	A	39	ENSP00000002125:P39A;ENSP00000337431:P39A	ENSP00000002125:P39A	P	+	1	0	C2orf56	37312812	0.000000	0.05858	0.006000	0.13384	0.962000	0.63368	0.599000	0.24089	0.268000	0.21939	-0.319000	0.08680	CCG	C|0.931;G|0.069	0.069	strong		0.463	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		G	37459308	C	G	37459308	3	3	22	1	0	0	0	0	1	0	0	0	2177	623	22	4	121	4	C2orf56	2	37459308	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4310	37459308	205740065	1311	6419										
PRKD3	23683	hgsc.bcm.edu	37	chr2	37505105	37505105	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggattgtacaaccctcatTagcggaatattattgcttgt	8	7	1	0	rs10460527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37505105T>G	ENST00000379066.1	-	9	1962	c.1200A>C	c.(1198-1200)ctA>ctC	p.L400L	PRKD3_ENST00000234179.2_Silent_p.L400L			O94806	KPCD3_HUMAN	protein kinase D3	400					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L400L(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAACCCTCATTAGCGGAATAT	0.363													T|||	1118	0.223243	0.2254	0.2824	5008	,	,		16392	0.3373		0.1272	False		,,,				2504	0.1595				p.L400L	Melanoma(80;621 1355 8613 11814 51767)	Atlas-SNP	.											PRKD3_ENST00000379066,NS,carcinoma,0,2	PRKD3	170	2	2	Substitution - coding silent(2)	stomach(2)	c.A1200C						PASS	.	T		918,3488	350.5+/-310.9	92,734,1377	202	166	178		1200	-2.9	1	2	dbSNP_119	178	866,7734	195.8+/-240.9	62,742,3496	no	coding-synonymous	PRKD3	NM_005813.3		154,1476,4873	GG,GT,TT		10.0698,20.8352,13.7167		400/891	37505105	1784,11222	2203	4300	6503	SO:0001819	synonymous_variant	23683	exon8			CCTCATTAGCGGA	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1200A>C	2.37:g.37505105T>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	161	76	0.47205	NM_005813	D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	CCDS1789.1																																																																																			T|0.827;G|0.173	0.173	strong		0.363	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		G	37505105	T	G	37505105	2	3	22	1	0	0	0	0	0	0	0	1	12520	1741	61	5		5	PRKD3	2	37505105	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45797	37505105	205694268	1312	6420										
PRKD3	23683	hgsc.bcm.edu	37	chr2	37506939	37506939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacatcgagatcagatggAtccaagaagaacatcttatc	7	10	2	4	rs3770761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37506939A>G	ENST00000379066.1	-	8	1884	c.1122T>C	c.(1120-1122)gaT>gaC	p.D374D	PRKD3_ENST00000234179.2_Silent_p.D374D			O94806	KPCD3_HUMAN	protein kinase D3	374					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GATCAGATGGATCCAAGAAGA	0.388													A|||	815	0.16274	0.0809	0.2435	5008	,	,		13660	0.3373		0.0795	False		,,,				2504	0.1217				p.D374D	Melanoma(80;621 1355 8613 11814 51767)	Atlas-SNP	.											.	PRKD3	170	.	0			c.T1122C						PASS	.	A		328,4078	173.0+/-202.9	15,298,1890	109	107	108		1122	3.3	1	2	dbSNP_107	108	514,8086	145.6+/-201.3	24,466,3810	no	coding-synonymous	PRKD3	NM_005813.3		39,764,5700	GG,GA,AA		5.9767,7.4444,6.4739		374/891	37506939	842,12164	2203	4300	6503	SO:0001819	synonymous_variant	23683	exon7			AGATGGATCCAAG	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1122T>C	2.37:g.37506939A>G		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	120	60	0.5	NM_005813	D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	CCDS1789.1																																																																																			A|0.895;G|0.105	0.105	strong		0.388	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		G	37506939	A	G	37506939	2	3	22	1	0	0	0	0	0	0	0	1	12520	330	12	2		2	PRKD3	2	37506939	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1834	37506939	205692434	1313	6421										
PRKD3	23683	hgsc.bcm.edu	37	chr2	37543544	37543544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgcactgaagcttccatTagagagtcgggcagagagtc	14	8	0	3	rs11896614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37543544T>C	ENST00000379066.1	-	2	886	c.124A>G	c.(124-126)Aat>Gat	p.N42D	PRKD3_ENST00000234179.2_Missense_Mutation_p.N42D|PRKD3_ENST00000477132.1_5'Flank			O94806	KPCD3_HUMAN	protein kinase D3	42			N -> D (in dbSNP:rs11896614).		intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAGCTTCCATTAGAGAGTCGG	0.502													T|||	171	0.0341454	0.0484	0.0259	5008	,	,		17335	0.002		0.0547	False		,,,				2504	0.0327				p.N42D	Melanoma(80;621 1355 8613 11814 51767)	Atlas-SNP	.											.	PRKD3	170	.	0			c.A124G						PASS	.	T	ASP/ASN	218,4188	132.5+/-169.0	4,210,1989	89	85	87		124	5.7	1	2	dbSNP_120	87	402,8198	128.2+/-186.4	14,374,3912	yes	missense	PRKD3	NM_005813.3	23	18,584,5901	CC,CT,TT		4.6744,4.9478,4.767	possibly-damaging	42/891	37543544	620,12386	2203	4300	6503	SO:0001583	missense	23683	exon1			TTCCATTAGAGAG	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.124A>G	2.37:g.37543544T>C	ENSP00000368356:p.Asn42Asp	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	143	65	0.454545	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	70	0.03205128205128205	13	0.026422764227642278	12	0.03314917127071823	1	0.0017482517482517483	44	0.05804749340369393	T	17.38	3.375423	0.61735	0.049478	0.046744	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65916	-0.18;-0.18	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.47716	1.5	0.54753	D	0.999986	B;B	0.16166	0.016;0.003	B;B	0.14578	0.011;0.002	T	0.29119	-1.0022	10	0.62326	D	0.03	-29.3475	14.4843	0.67606	0.0:0.0:0.0:1.0	rs11896614;rs17481958;rs52813548;rs56921154;rs11896614	42;42	O94806-2;O94806	.;KPCD3_HUMAN	D	42	ENSP00000368356:N42D;ENSP00000234179:N42D	ENSP00000234179:N42D	N	-	1	0	PRKD3	37397048	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.264000	0.78432	2.154000	0.67381	0.482000	0.46254	AAT	T|0.960;C|0.040	0.040	strong		0.502	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		C	37543544	T	C	37543544	3	2	22	1	0	0	0	0	1	0	0	0	12520	1754	61	2	2620	2	PRKD3	2	37543544	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36605	37543544	205655829	1314	6422										
QPCT	25797	hgsc.bcm.edu	37	chr2	37579937	37579937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattcaatcctcagaattaCcaccagccagccattttgaa	4	13	3	2	rs2230299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:37579937C>T	ENST00000338415.3	+	2	284	c.126C>T	c.(124-126)taC>taT	p.Y42Y	QPCT_ENST00000537448.1_Intron	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	42					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.Y42Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTCAGAATTACCACCAGCCAG	0.363													T|||	1469	0.293331	0.5401	0.3012	5008	,	,		19797	0.3383		0.0686	False		,,,				2504	0.1391				p.Y42Y		Atlas-SNP	.											QPCT,NS,carcinoma,0,1	QPCT	34	1	1	Substitution - coding silent(1)	stomach(1)	c.C126T						PASS	.	T		2116,2290	600.5+/-389.5	524,1068,611	86	93	91		126	-1.2	0.8	2	dbSNP_100	91	442,8158	799.7+/-407.4	19,404,3877	no	coding-synonymous	QPCT	NM_012413.3		543,1472,4488	TT,TC,CC		5.1395,48.0254,19.6678		42/362	37579937	2558,10448	2203	4300	6503	SO:0001819	synonymous_variant	25797	exon2			GAATTACCACCAG	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.126C>T	2.37:g.37579937C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	133	78	0.586466	NM_012413	Q16770|Q3KRG6|Q53TR4	Silent	SNP	ENST00000338415.3	37	CCDS1790.1																																																																																			C|0.765;T|0.235	0.235	strong		0.363	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			T	37579937	C	T	37579937	2	4	22	1	0	0	0	0	0	0	0	1	12874	518	18	2		2	QPCT	2	37579937	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36393	37579937	205619436	1315	6423										
FAM82A1	151393	hgsc.bcm.edu	37	chr2	38178406	38178406	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaccagagcttccaacgAtgttctccagaagatcaagt	10	10	2	3	rs4670799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:38178406A>G	ENST00000406384.1	+	2	646				RMDN2_ENST00000402091.3_Silent_p.R16R|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Silent_p.R16R|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Silent_p.R16R	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GCTTCCAACGATGTTCTCCAG	0.458													A|||	1644	0.328275	0.2247	0.3804	5008	,	,		19531	0.0883		0.4553	False		,,,				2504	0.5481				p.R16R		Atlas-SNP	.											.	.	.	.	0			c.A48G						PASS	.	A	,,,	1215,3191	422.8+/-339.9	167,881,1155	73	71	72		,,,48	0.3	0	2	dbSNP_111	72	4127,4471	562.5+/-388.0	991,2145,1163	no	intron,intron,intron,coding-synonymous	FAM82A1	NM_001170791.1,NM_001170792.1,NM_001170793.1,NM_144713.3	,,,	1158,3026,2318	GG,GA,AA		47.9995,27.576,41.0797	,,,	,,,16/574	38178406	5342,7662	2203	4299	6502	SO:0001627	intron_variant	151393	exon2			CCAACGATGTTCT	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21534A>G	2.37:g.38178406A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	31	12	0.387097	NM_144713	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Silent	SNP	ENST00000406384.1	37	CCDS54351.1																																																																																			A|0.638;G|0.362	0.362	strong		0.458	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		G	38178406	A	G	38178406	1	3	22	0	1	0	0	0	0	0	0	0	5630	320	12	2		2	FAM82A1	2	38178406	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	598469	38178406	205020967	1316	6424										
CYP1B1	1545	hgsc.bcm.edu	37	chr2	38301803	38301803	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtactgcagccagggcatCacgtccaccaggctgcccgc	11	16	1	0	rs9341249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:38301803C>G	ENST00000260630.3	-	2	1130	c.729G>C	c.(727-729)gtG>gtC	p.V243V	CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000407341.1_Silent_p.V243V|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	243					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GCCAGGGCATCACGTCCACCA	0.627													c|||	383	0.0764776	0.2678	0.0159	5008	,	,		16495	0.0129		0.003	False		,,,				2504	0.002				p.V243V		Atlas-SNP	.											.	CYP1B1	39	.	0			c.G729C						PASS	.	A		917,3489	333.9+/-303.2	93,731,1379	43	41	42		729	1.5	1	2	dbSNP_119	42	21,8579	12.6+/-44.7	0,21,4279	yes	coding-synonymous	CYP1B1	NM_000104.3		93,752,5658	GG,GC,CC		0.2442,20.8125,7.2121		243/544	38301803	938,12068	2203	4300	6503	SO:0001819	synonymous_variant	1545	exon2			GGGCATCACGTCC	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.729G>C	2.37:g.38301803C>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_000104	Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	CCDS1793.1																																																																																			C|0.934;G|0.066	0.066	strong		0.627	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		G	38301803	C	G	38301803	2	3	22	1	0	0	0	0	0	0	0	1	4151	813	29	4		4	CYP1B1	2	38301803	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123397	38301803	204897570	1317	6425										
GALM	130589	hgsc.bcm.edu	37	chr2	38916970	38916970	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggcttccccaaatataAatgaccatgaagtcaccata	5	13	1	2	rs6741892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:38916970A>T	ENST00000272252.5	+	4	820	c.568A>T	c.(568-570)Aat>Tat	p.N190Y	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	190			N -> Y (in dbSNP:rs6741892).		galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCAAATataaatgaccatga	0.368													T|||	919	0.183506	0.2542	0.1023	5008	,	,		17622	0.1915		0.0746	False		,,,				2504	0.2495				p.N190Y		Atlas-SNP	.											.	GALM	20	.	0			c.A568T						PASS	.	T	TYR/ASN	1027,3379	726.9+/-409.8	115,797,1291	95	92	93	http://www.ncbi.nlm.nih.gov/pubmed?term	568	4.8	1	2	dbSNP_116	93	683,7917	788.1+/-407.6	28,627,3645	yes	missense	GALM	NM_138801.2	143	143,1424,4936	TT,TA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	7.9419,23.3091,13.1478	benign	190/343	38916970	1710,11296	2203	4300	6503	SO:0001583	missense	130589	exon4			AATATAAATGACC		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"aldose 1 epimerase"	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.568A>T	2.37:g.38916970A>T	ENSP00000272252:p.Asn190Tyr	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_138801	Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	330	0.1510989010989011	121	0.2459349593495935	34	0.09392265193370165	111	0.19405594405594406	64	0.08443271767810026	T	4.140	0.024364	0.08054	0.233091	0.079419	ENSG00000143891	ENST00000272252;ENST00000434934	T;T	0.43294	0.95;0.95	4.8	4.8	0.61643	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00980	-1.08	0.09310	P	0.9999999999999701	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	9	0.09843	T	0.71	-6.837	9.3927	0.38383	0.1594:0.0:0.0:0.8406	rs6741892;rs52825962;rs6741892	190	Q96C23	GALM_HUMAN	Y	190;70	ENSP00000272252:N190Y;ENSP00000399473:N70Y	ENSP00000272252:N190Y	N	+	1	0	GALM	38770474	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.568000	0.45965	0.931000	0.37242	-0.265000	0.10407	AAT	A|0.849;T|0.151	0.151	strong		0.368	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		T	38916970	A	T	38916970	3	4	22	1	0	0	0	0	1	0	0	0	6205	14	1	5	582	5	GALM	2	38916970	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	615167	38916970	204282403	1318	6426										
SOS1	6654	hgsc.bcm.edu	37	chr2	39294787	39294787	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctctacatctgaagcactTcggggctgagcttggcatag	11	11	2	2	rs7609455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:39294787T>G	ENST00000426016.1	-	3	281	c.195A>C	c.(193-195)cgA>cgC	p.R65R	SOS1_ENST00000395038.2_Silent_p.R65R|SOS1_ENST00000428721.2_Silent_p.R8R|SOS1_ENST00000402219.2_Silent_p.R65R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	65					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTGAAGCACTTCGGGGCTGAG	0.363									Noonan syndrome				t|||	249	0.0497204	0.1286	0.0576	5008	,	,		16835	0.0288		0.001	False		,,,				2504	0.0092				p.R65R		Atlas-SNP	.											.	SOS1	134	.	0			c.A195C						PASS	.	T		512,3894	233.3+/-246.5	27,458,1718	135	151	146		195	3.1	1	2	dbSNP_116	146	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	SOS1	NM_005633.3		27,463,6013	GG,GT,TT		0.0581,11.6205,3.9751		65/1334	39294787	517,12489	2203	4300	6503	SO:0001819	synonymous_variant	6654	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	AGCACTTCGGGGC	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.195A>C	2.37:g.39294787T>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	159	75	0.471698	NM_005633	A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	CCDS1802.1																																																																																			T|0.952;G|0.048	0.048	strong		0.363	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		G	39294787	T	G	39294787	2	3	22	1	0	0	0	0	0	0	0	1	14936	1770	62	5		5	SOS1	2	39294787	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	377817	39294787	203904586	1319	6427										
PKDCC	91461	hgsc.bcm.edu	37	chr2	42275819	42275819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggtccgcctgcccggcggTgccgcggtggcgctcaaggc	18	16	1	0	rs11897440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:42275819T>C	ENST00000294964.5	+	1	660	c.480T>C	c.(478-480)ggT>ggC	p.G160G		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						TGCCCGGCGGTGCCGCGGTGG	0.731													C|||	2998	0.598642	0.8623	0.6196	5008	,	,		9651	0.505		0.3897	False		,,,				2504	0.5389				p.G160G		Atlas-SNP	.											.	PKDCC	21	.	0			c.T480C						PASS	.	C		1041,283		419,203,40	5	7	7		480	3.2	1	2	dbSNP_120	7	1311,1805		320,671,567	no	coding-synonymous	PKDCC	NM_138370.2		739,874,607	CC,CT,TT		42.0732,21.3746,47.027		160/494	42275819	2352,2088	662	1558	2220	SO:0001819	synonymous_variant	91461	exon1			CGGCGGTGCCGCG		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.480T>C	2.37:g.42275819T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_138370		Silent	SNP	ENST00000294964.5	37	CCDS33186.2																																																																																			T|0.448;C|0.552	0.552	strong		0.731	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			C	42275819	T	C	42275819	2	2	22	1	0	0	0	0	0	0	0	1	11969	1683	59	2		2	PKDCC	2	42275819	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2981032	42275819	200923554	1320	6428										
ZFP36L2	678	hgsc.bcm.edu	37	chr2	43452334	43452334	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccataggggcagaagccGatggtatgaaaggtgcggca	17	8	0	2	rs397823004|rs8098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:43452334G>A	ENST00000282388.3	-	2	902	c.609C>T	c.(607-609)atC>atT	p.I203I	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	203	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCAGAAGCCGATGGTATGAA	0.672													G|||	576	0.115016	0.2141	0.0519	5008	,	,		13494	0.003		0.0676	False		,,,				2504	0.1902				p.I203I		Atlas-SNP	.											.	ZFP36L2	56	.	0			c.C609T						PASS	.	G		842,3564	312.2+/-292.5	92,658,1453	31	29	30		609	0.6	1	2	dbSNP_52	30	618,7982	156.7+/-210.5	24,570,3706	no	coding-synonymous	ZFP36L2	NM_006887.4		116,1228,5159	AA,AG,GG		7.186,19.1103,11.2256		203/495	43452334	1460,11546	2203	4300	6503	SO:0001819	synonymous_variant	678	exon2			GAAGCCGATGGTA	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.609C>T	2.37:g.43452334G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	41	20	0.487805	NM_006887	Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	CCDS1811.1																																																																																			G|0.886;A|0.114	0.114	strong		0.672	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		A	43452334	G	A	43452334	2	1	22	1	0	0	0	0	0	0	0	1	17644	1048	37	1		1	ZFP36L2	2	43452334	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1176515	43452334	199747039	1321	6429										
THADA	63892	hgsc.bcm.edu	37	chr2	43518843	43518843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagccttacctccacacAtgtctgcatgtggtgggaaa	9	12	1	0	rs17030648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:43518843A>G	ENST00000405006.4	-	34	5353	c.5002T>C	c.(5002-5004)Tgt>Cgt	p.C1668R	THADA_ENST00000405975.2_Missense_Mutation_p.C1668R|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.C1349R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1668			C -> R (in dbSNP:rs17030648).							breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCTCCACACATGTCTGCATG	0.393													A|||	159	0.0317492	0.1157	0.0086	5008	,	,		16790	0.0		0.0	False		,,,				2504	0.0				p.C1668R		Atlas-SNP	.											.	THADA	131	.	0			c.T5002C						PASS	.	A	ARG/CYS,ARG/CYS	351,3379		16,319,1530	62	58	59		5002,5002	-5.8	0	2	dbSNP_123	59	7,8131		0,7,4062	yes	missense,missense	THADA	NM_001083953.1,NM_022065.4	180,180	16,326,5592	GG,GA,AA		0.086,9.4102,3.0165	benign,benign	1668/1954,1668/1954	43518843	358,11510	1865	4069	5934	SO:0001583	missense	63892	exon34			CCACACATGTCTG	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5002T>C	2.37:g.43518843A>G	ENSP00000385995:p.Cys1668Arg	Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	213	118	0.553991	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	62	0.028388278388278388	61	0.12398373983739837	1	0.0027624309392265192	0	0.0	0	0.0	A	0.081	-1.182910	0.01620	0.094102	8.6E-4	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.67698	-0.28;-0.28;-0.28	4.52	-5.84	0.02318	.	1.778280	0.02439	N	0.084348	T	0.01092	0.0036	L	0.35723	1.085	0.58432	P	9.99999999995449E-6	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.15292	-1.0442	9	0.13108	T	0.6	-12.3615	13.0032	0.58687	0.3567:0.0:0.6433:0.0	rs17030648;rs52831994;rs17030648	1595;1668	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	R	1668;1595;1349;1668	ENSP00000386088:C1668R;ENSP00000416048:C1349R;ENSP00000385995:C1668R	ENSP00000349464:C1595R	C	-	1	0	THADA	43372347	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-2.041000	0.01415	-1.081000	0.03105	-0.384000	0.06662	TGT	A|0.958;G|0.042	0.042	strong		0.393	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		G	43518843	A	G	43518843	3	3	22	1	0	0	0	0	1	0	0	0	15837	217	8	2	879	2	THADA	2	43518843	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66509	43518843	199680530	1322	6430										
THADA	63892	hgsc.bcm.edu	37	chr2	43819139	43819139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccgtgagttgcacacaAtgtaacagcaaagaagctag	9	10	0	2	rs17031095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:43819139A>G	ENST00000405006.4	-	3	474	c.123T>C	c.(121-123)caT>caC	p.H41H	THADA_ENST00000403856.1_Silent_p.H41H|THADA_ENST00000405975.2_Silent_p.H41H|THADA_ENST00000404790.1_Silent_p.H41H|THADA_ENST00000402360.2_Silent_p.H41H|THADA_ENST00000415080.2_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	41										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTGCACACAATGTAACAGCA	0.313													A|||	577	0.115216	0.2337	0.0793	5008	,	,		16040	0.0079		0.1074	False		,,,				2504	0.0992				p.H41H		Atlas-SNP	.											.	THADA	131	.	0			c.T123C						PASS	.	A	,	699,2989		60,579,1205	59	54	56		123,123	-9.3	0	2	dbSNP_123	56	1087,7075		77,933,3071	no	coding-synonymous,coding-synonymous	THADA	NM_001083953.1,NM_022065.4	,	137,1512,4276	GG,GA,AA		13.3178,18.9534,15.0717	,	41/1954,41/1954	43819139	1786,10064	1844	4081	5925	SO:0001819	synonymous_variant	63892	exon3			CACACAATGTAAC	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.123T>C	2.37:g.43819139A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	120	67	0.558333	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	CCDS46268.1																																																																																			A|0.886;G|0.114	0.114	strong		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		G	43819139	A	G	43819139	2	3	22	1	0	0	0	0	0	0	0	1	15837	98	4	2		2	THADA	2	43819139	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	300296	43819139	199380234	1323	6431										
PLEKHH2	130271	hgsc.bcm.edu	37	chr2	43927568	43927568	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggaaactgatcttgatCtagttgatggagacagtaca	10	7	3	4	rs17031299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:43927568C>T	ENST00000282406.4	+	8	1581	c.1471C>T	c.(1471-1473)Cta>Tta	p.L491L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	491					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGATCTTGATCTAGTTGATGG	0.408													C|||	207	0.0413339	0.0696	0.0346	5008	,	,		21682	0.0347		0.007	False		,,,				2504	0.0501				p.L491L		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.C1471T						PASS	.	C		296,4110	161.4+/-193.6	15,266,1922	177	168	171		1471	3	0.8	2	dbSNP_123	171	27,8573	19.8+/-62.0	0,27,4273	no	coding-synonymous	PLEKHH2	NM_172069.3		15,293,6195	TT,TC,CC		0.314,6.7181,2.4835		491/1494	43927568	323,12683	2203	4300	6503	SO:0001819	synonymous_variant	130271	exon8			CTTGATCTAGTTG	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1471C>T	2.37:g.43927568C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	173	90	0.520231	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																			C|0.973;T|0.027	0.027	strong		0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		T	43927568	C	T	43927568	2	4	22	1	0	0	0	0	0	0	0	1	12077	912	32	2		2	PLEKHH2	2	43927568	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108429	43927568	199271805	1324	6432										
LRPPRC	10128	hgsc.bcm.edu	37	chr2	44172496	44172496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgccatgctttgccaaTactcttacaaggcctacata	6	12	1	0	rs145963884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44172496T>C	ENST00000260665.7	-	22	2328	c.2271A>G	c.(2269-2271)gtA>gtG	p.V757V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	757					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTTTGCCAATACTCTTACAA	0.378													T|||	5	0.000998403	0.0038	0.0	5008	,	,		22524	0.0		0.0	False		,,,				2504	0.0				p.V757V		Atlas-SNP	.											.	LRPPRC	105	.	0			c.A2271G						PASS	.	T		7,4399	12.9+/-30.5	0,7,2196	137	122	127		2271	-0.7	1	2	dbSNP_134	127	0,8598		0,0,4299	no	coding-synonymous	LRPPRC	NM_133259.3		0,7,6495	CC,CT,TT		0.0,0.1589,0.0538		757/1395	44172496	7,12997	2203	4299	6502	SO:0001819	synonymous_variant	10128	exon22			TGCCAATACTCTT	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2271A>G	2.37:g.44172496T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	130	54	0.415385	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																			T|0.999;C|0.001	0.001	strong		0.378	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		C	44172496	T	C	44172496	2	2	22	1	0	0	0	0	0	0	0	1	8965	1393	49	2		2	LRPPRC	2	44172496	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	244928	44172496	199026877	1325	6433										
LRPPRC	10128	hgsc.bcm.edu	37	chr2	44175293	44175293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaacatggtagctttccaGgagattacgaatgcctctgt	11	8	1	1	rs35881858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44175293G>A	ENST00000260665.7	-	18	1945	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	630					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGCTTTCCAGGAGATTACGA	0.358													G|||	126	0.0251597	0.0923	0.0043	5008	,	,		15884	0.0		0.001	False		,,,				2504	0.0				p.L630L		Atlas-SNP	.											.	LRPPRC	105	.	0			c.C1888T						PASS	.	G		269,4135	149.2+/-183.4	6,257,1939	94	99	97		1888	3.8	0.8	2	dbSNP_126	97	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LRPPRC	NM_133259.3		6,260,6236	AA,AG,GG		0.0349,6.1081,2.0917		630/1395	44175293	272,12732	2202	4300	6502	SO:0001819	synonymous_variant	10128	exon18			TTTCCAGGAGATT	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1888C>T	2.37:g.44175293G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	53	19	0.358491	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																			G|0.983;A|0.017	0.017	strong		0.358	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		A	44175293	G	A	44175293	2	1	22	1	0	0	0	0	0	0	0	1	8965	991	35	2		2	LRPPRC	2	44175293	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2797	44175293	199024080	1326	6434										
SLC3A1	6519	hgsc.bcm.edu	37	chr2	44528268	44528268	+	Splice_Site	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagcccggcagatacaggTtgaccacggcatatgctctc					rs556841667|rs61179824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44528268delT	ENST00000260649.6	+	6	1212		c.e6+2		SLC3A1_ENST00000409380.1_Splice_Site|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409387.1_Splice_Site|SLC3A1_ENST00000410056.3_Frame_Shift_Del_p.L380fs|SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409294.1_Intron	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGATACAGGTTGACCACGGC	0.507													T|TT|T|insertion	560	0.111821	0.2708	0.0821	5008	,	,		20412	0.001		0.1243	False		,,,				2504	0.0194				.		Pindel,Atlas-Indel	.											.	SLC3A1	62	.	0			c.1136+1T>-	GRCh37	CS013629	SLC3A1	S	rs146125507	PASS	.			1011,3255		126,759,1248	78	75	76			5.3	1	2	dbSNP_134	89	935,7319		49,837,3241	no	splice-5	SLC3A1	NM_000341.3		175,1596,4489	A1A1,A1R,RR		11.3278,23.699,15.5431			44528268	1946,10574	2170	4288	6458	SO:0001630	splice_region_variant	6519	exon6			.		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1136+2T>-	2.37:g.44528268delT		Somatic	109	.	.		WXS	Illumina HiSeq	Phase_I	128	35	0.273	NM_000341	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	DEL	ENST00000260649.6	37	CCDS1819.1																																																																																			T|0.888;-|0.112	0.112	strong		0.507	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron	-	44528268	T	-	44528268	8	5	22	1	0	1	0	1	0	0	1	0	14626	1739	60	0	1160	0	SLC3A1	2	44528268	Splice_Site	DEL	T	TCGA-G8-6324-01A-11D-2210-10	352975	44528268	198671105	1327	6435										
SLC3A1	6519	hgsc.bcm.edu	37	chr2	44547672	44547672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggactcatctttgaacacaAcacgaagaatctccttcatc	6	12	4	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44547672A>G	ENST00000260649.6	+	10	2028	c.1952A>G	c.(1951-1953)aAc>aGc	p.N651S	PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.N373S|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.N282S	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	651					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTGAACACAACACGAAGAAT	0.418																																					p.N651S		Atlas-SNP	.											SLC3A1,NS,carcinoma,-1,1	SLC3A1	62	1	0			c.A1952G						scavenged	.						104	89	94					2																	44547672		2203	4300	6503	SO:0001583	missense	6519	exon10			AACACAACACGAA		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1952A>G	2.37:g.44547672A>G	ENSP00000260649:p.Asn651Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	130	3	0.0230769	NM_000341	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508605	0.27036	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99023	-5.34;-4.77;-4.42	5.99	0.419	0.16438	.	0.636516	0.17209	N	0.182836	D	0.93906	0.8050	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.87273	0.2287	10	0.07175	T	0.84	-2.2702	6.9945	0.24774	0.5478:0.1428:0.3094:0.0	.	651	Q07837	SLC31_HUMAN	S	651;587;373;282	ENSP00000260649:N651S;ENSP00000386709:N373S;ENSP00000386677:N282S	ENSP00000260649:N651S	N	+	2	0	SLC3A1	44401176	0.020000	0.18652	0.054000	0.19295	0.868000	0.49771	0.316000	0.19469	0.131000	0.18576	0.533000	0.62120	AAC	.	.	none		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		G	44547672	A	G	44547672	3	3	22	1	0	0	0	0	1	0	0	0	14626	43	2	2	1990	2	SLC3A1	2	44547672	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19404	44547672	198651701	1328	6436										
PREPL	9581	hgsc.bcm.edu	37	chr2	44550528	44550528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtagtgtccatcatggtgTtgagaacatccaagaaaggt	12	6	1	2	rs75128515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44550528T>C	ENST00000409936.1	-	12	2206	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	PREPL_ENST00000409957.1_Missense_Mutation_p.N501S|PREPL_ENST00000541738.1_Missense_Mutation_p.N501S|PREPL_ENST00000378520.3_Missense_Mutation_p.N524S|PREPL_ENST00000409272.1_Missense_Mutation_p.N590S|PREPL_ENST00000378511.3_Missense_Mutation_p.N528S|PREPL_ENST00000409411.1_Missense_Mutation_p.N501S|PREPL_ENST00000260648.6_Missense_Mutation_p.N590S|PREPL_ENST00000410081.1_Missense_Mutation_p.N590S	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	590						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCATGGTGTTGAGAACATC	0.348													T|||	50	0.00998403	0.0363	0.0029	5008	,	,		17612	0.0		0.0	False		,,,				2504	0.0				p.N590S		Atlas-SNP	.											.	PREPL	69	.	0			c.A1769G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	146,4260	103.0+/-141.5	2,142,2059	115	103	107		1583,1571,1769,1769,1502,1502,1769	4.2	1	2	dbSNP_131	107	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense,missense	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	46,46,46,46,46,46,46	2,144,6357	CC,CT,TT		0.0233,3.3137,1.1379	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	528/666,524/662,590/728,590/728,501/639,501/639,590/728	44550528	148,12858	2203	4300	6503	SO:0001583	missense	9581	exon12			ATGGTGTTGAGAA	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1769A>G	2.37:g.44550528T>C	ENSP00000386543:p.Asn590Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	136	68	0.5	NM_001171603	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	CCDS33190.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	T	17.70	3.454601	0.63290	0.033137	2.33E-4	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.3	4.15	0.48705	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.105776	0.64402	D	0.000005	T	0.16342	0.0393	L	0.49778	1.585	0.40476	D	0.980399	D;B;B	0.61697	0.99;0.302;0.374	D;B;B	0.72982	0.979;0.162;0.383	T	0.05699	-1.0869	10	0.52906	T	0.07	-17.8051	10.6101	0.45417	0.0:0.0754:0.0:0.9246	.	528;524;590	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	S	501;501;501;590;590;590;590;524;528	ENSP00000439626:N501S;ENSP00000387095:N501S;ENSP00000387241:N501S;ENSP00000386543:N590S;ENSP00000260648:N590S;ENSP00000386909:N590S;ENSP00000386509:N590S;ENSP00000367781:N524S;ENSP00000367772:N528S	ENSP00000260648:N590S	N	-	2	0	PREPL	44404032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.187000	0.58344	0.864000	0.35578	0.533000	0.62120	AAC	T|0.987;C|0.013	0.013	strong		0.348	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		C	44550528	T	C	44550528	3	2	22	1	0	0	0	0	1	0	0	0	12475	1725	60	2	430	2	PREPL	2	44550528	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2856	44550528	198648845	1329	6437										
PREPL	9581	hgsc.bcm.edu	37	chr2	44571008	44571008	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacatatttttcatctggAgcaactctgatacaatcaat	5	10	4	1	rs72875319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:44571008A>T	ENST00000409936.1	-	5	929	c.492T>A	c.(490-492)gcT>gcA	p.A164A	PREPL_ENST00000409957.1_Silent_p.A75A|PREPL_ENST00000541738.1_Silent_p.A75A|PREPL_ENST00000378520.3_Silent_p.A164A|PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000409272.1_Silent_p.A164A|PREPL_ENST00000378511.3_Silent_p.A164A|PREPL_ENST00000409411.1_Silent_p.A75A|PREPL_ENST00000260648.6_Silent_p.A164A|PREPL_ENST00000410081.1_Silent_p.A164A	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	164						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTCATCTGGAGCAACTCTGA	0.363													A|||	190	0.0379393	0.1309	0.0231	5008	,	,		16552	0.0		0.001	False		,,,				2504	0.0				p.A164A		Atlas-SNP	.											.	PREPL	69	.	0			c.T492A						PASS	.	A	,,,,,,	487,3919	228.8+/-243.5	28,431,1744	110	113	112		492,492,492,492,225,225,492	4.5	1	2	dbSNP_130	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	,,,,,,	28,433,6042	TT,TA,AA		0.0233,11.0531,3.7598	,,,,,,	164/666,164/662,164/728,164/728,75/639,75/639,164/728	44571008	489,12517	2203	4300	6503	SO:0001819	synonymous_variant	9581	exon5			ATCTGGAGCAACT	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.492T>A	2.37:g.44571008A>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	50	0.438596	NM_001171603	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	CCDS33190.1																																																																																			A|0.966;T|0.034	0.034	strong		0.363	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		T	44571008	A	T	44571008	2	4	22	1	0	0	0	0	0	0	0	1	12475	291	11	5		5	PREPL	2	44571008	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20480	44571008	198628365	1330	6438										
ATP6V1E2	90423	hgsc.bcm.edu	37	chr2	46739683	46739683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctcctttttctcataAtactccataatcttcagtcg	3	12	4	0	rs17035245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:46739683A>G	ENST00000306448.4	-	2	1281	c.168T>C	c.(166-168)taT>taC	p.Y56Y	ATP6V1E2_ENST00000522587.1_Silent_p.Y56Y	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	56					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTCTCATAATACTCCATAA	0.468													A|||	134	0.0267572	0.0908	0.0187	5008	,	,		21675	0.0		0.001	False		,,,				2504	0.0				p.Y56Y		Atlas-SNP	.											.	ATP6V1E2	25	.	0			c.T168C						PASS	.	A		340,4066	178.0+/-206.8	14,312,1877	203	202	202		168	1.7	1	2	dbSNP_123	202	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	ATP6V1E2	NM_080653.3		14,319,6170	GG,GA,AA		0.0814,7.7167,2.668		56/227	46739683	347,12659	2203	4300	6503	SO:0001819	synonymous_variant	90423	exon2			CTCATAATACTCC	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.168T>C	2.37:g.46739683A>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	227	120	0.528634	NM_080653		Silent	SNP	ENST00000306448.4	37	CCDS1826.1																																																																																			A|0.964;G|0.036	0.036	strong		0.468	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		G	46739683	A	G	46739683	2	3	22	1	0	0	0	0	0	0	0	1	1184	108	4	2		2	ATP6V1E2	2	46739683	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2168675	46739683	196459690	1331	6439										
TTC7A	57217	hgsc.bcm.edu	37	chr2	47301029	47301029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggccagcagccctgtActgcccttctccatcatccc	8	18	2	0	rs3739099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:47301029A>G	ENST00000319190.5	+	20	2912	c.2544A>G	c.(2542-2544)gtA>gtG	p.V848V	TTC7A_ENST00000394850.2_Silent_p.V872V|TTC7A_ENST00000409245.1_Silent_p.V814V|AC073283.7_ENST00000421759.1_RNA|RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000263737.6_Silent_p.V494V|C2orf61_ENST00000464527.2_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	848					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGCCCTGTACTGCCCTTCT	0.687													G|||	1665	0.332468	0.3064	0.2507	5008	,	,		17841	0.6577		0.0885	False		,,,				2504	0.3415				p.V848V		Atlas-SNP	.											TTC7A,NS,carcinoma,0,1	TTC7A	80	1	0			c.A2544G						PASS	.	G		1221,3183	692.2+/-405.5	177,867,1158	41	35	37		2544	1	1	2	dbSNP_107	37	641,7959	780.6+/-407.7	30,581,3689	no	coding-synonymous	TTC7A	NM_020458.2		207,1448,4847	GG,GA,AA		7.4535,27.7248,14.3187		848/859	47301029	1862,11142	2202	4300	6502	SO:0001819	synonymous_variant	57217	exon20			CCCTGTACTGCCC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2544A>G	2.37:g.47301029A>G		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	223	104	0.466368	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																			A|0.774;G|0.226	0.226	strong		0.687	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		G	47301029	A	G	47301029	2	3	22	1	0	0	0	0	0	0	0	1	16709	378	14	2		2	TTC7A	2	47301029	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	561346	47301029	195898344	1332	6440										
C2orf61	285051	hgsc.bcm.edu	37	chr2	47380145	47380145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaaaagaggaagtctttTgggctggtttctgttaacaa	10	5	3	1	rs17036300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:47380145T>C	ENST00000445927.2	-	2	218	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	RP11-761B3.1_ENST00000422269.1_Missense_Mutation_p.Q38R|C2orf61_ENST00000294947.2_Missense_Mutation_p.Q31R	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	31			Q -> R (in dbSNP:rs17036300).					p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAGTCTTTTGGGCTGGTTT	0.313													C|||	818	0.163339	0.2799	0.1556	5008	,	,		17237	0.0327		0.0706	False		,,,				2504	0.2413				p.Q31R		Atlas-SNP	.											.	C2orf61	31	.	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	c.A92G						PASS	.	C	ARG/GLN,ARG/GLN	1092,3314	718.8+/-408.9	136,820,1247	94	96	96		92,92	-1.1	0	2	dbSNP_123	96	687,7903	786.4+/-407.6	21,645,3629	yes	missense,missense	C2orf61	NM_001163561.1,NM_173649.2	43,43	157,1465,4876	CC,CT,TT		7.9977,24.7844,13.6888	benign,benign	31/249,31/178	47380145	1779,11217	2203	4295	6498	SO:0001583	missense	285051	exon2			GTCTTTTGGGCTG	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.92A>G	2.37:g.47380145T>C	ENSP00000408527:p.Gln31Arg	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_173649	H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	CCDS54356.1	260	0.11904761904761904	135	0.27439024390243905	58	0.16022099447513813	10	0.017482517482517484	57	0.07519788918205805	C	4.974	0.180928	0.09443	0.247844	0.079977	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.31247	1.5;1.5	6.06	-1.12	0.09808	.	1.322300	0.05307	N	0.524043	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	9	0.05833	T	0.94	-4.6419	5.9633	0.19310	0.1458:0.2593:0.0:0.5949	rs17036300;rs52797992;rs57024040;rs17036300	31	Q8N801	CB061_HUMAN	R	31	ENSP00000408527:Q31R;ENSP00000294947:Q31R	ENSP00000294947:Q31R	Q	-	2	0	C2orf61	47233649	0.002000	0.14202	0.008000	0.14137	0.193000	0.23685	-0.171000	0.09883	-0.067000	0.12976	-0.119000	0.15052	CAA	T|0.866;C|0.134	0.134	strong		0.313	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		C	47380145	T	C	47380145	3	2	22	1	0	0	0	0	1	0	0	0	2180	1812	63	2	693	2	C2orf61	2	47380145	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79116	47380145	195819228	1333	6441										
MSH2	4436	hgsc.bcm.edu	37	chr2	47637246	47637246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttaggcttctcctggcaAtctctctcagtttgaagaca	7	11	3	2	rs17217772|rs63751227|rs63750924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:47637246A>G	ENST00000233146.2	+	3	603	c.380A>G	c.(379-381)aAt>aGt	p.N127S	MSH2_ENST00000543555.1_Missense_Mutation_p.N61S|MSH2_ENST00000406134.1_Missense_Mutation_p.N127S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	127			N -> S (in HNPCC1; shows significantly decreased repair efficiency when associated with variant Pro-328; presumed to enhance cancer risk considerably when associated with Pro-328; this concomitant defect with another variant could explain its recurrent occurrence in CRC patients; dbSNP:rs17217772). {ECO:0000269|PubMed:12655564, ECO:0000269|Ref.9}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCCTGGCAATctctctcag	0.333			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A|||	124	0.0247604	0.087	0.0115	5008	,	,		17721	0.0		0.001	False		,,,				2504	0.0				p.N127S		Atlas-SNP	.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2	198	.	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.A380G	GRCh37	CD982801|CM011415|CM081337	MSH2	D|M	rs17217772	PASS	.	A	SER/ASN	339,4067	176.2+/-205.4	17,305,1881	178	180	180	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	380	4.6	1	2	dbSNP_123	180	4,8596	3.7+/-12.6	0,4,4296	no	missense	MSH2	NM_000251.1	46	17,309,6177	GG,GA,AA		0.0465,7.6941,2.6372	possibly-damaging	127/935	47637246	343,12663	2203	4300	6503	SO:0001583	missense	4436	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CTGGCAATCTCTC	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.380A>G	2.37:g.47637246A>G	ENSP00000233146:p.Asn127Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	41|41	0.018772893772893772|0.018772893772893772	36|36	0.07317073170731707|0.07317073170731707	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	A|A	15.07|15.07	2.724903|2.724903	0.48833|0.48833	0.076941|0.076941	4.65E-4|4.65E-4	ENSG00000095002|ENSG00000095002	ENST00000413880|ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	.|D;D;D;D	.|0.89485	.|-2.52;-2.52;-2.52;-2.52	5.73|5.73	4.59|4.59	0.56863|0.56863	.|DNA mismatch repair protein MutS-like, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62551|0.62551	0.2437|0.2437	M|M	0.93150|0.93150	3.385|3.385	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51057	.|0.941;0.912	.|P;P	.|0.60068	.|0.812;0.868	T|T	0.77913|0.77913	-0.2410|-0.2410	6|10	0.18276|0.87932	T|D	0.48|0	-16.5115|-16.5115	11.6216|11.6216	0.51121|0.51121	0.9307:0.0:0.0693:0.0|0.9307:0.0:0.0693:0.0	rs17217772;rs60111901|rs17217772;rs60111901	.|127;127	.|E9PHA6;P43246	.|.;MSH2_HUMAN	V|S	13|127;61;61;127;127;127;127;127;127	.|ENSP00000233146:N127S;ENSP00000411482:N61S;ENSP00000442697:N61S;ENSP00000384199:N127S	ENSP00000402969:I13V|ENSP00000233146:N127S	I|N	+|+	1|2	0|0	MSH2|MSH2	47490750|47490750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.064000|0.064000	0.16182|0.16182	9.227000|9.227000	0.95236|0.95236	1.008000|1.008000	0.39264|0.39264	-0.322000|-0.322000	0.08575|0.08575	ATC|AAT	A|0.965;G|0.035	0.035	strong		0.333	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			G	47637246	A	G	47637246	3	3	22	1	0	0	0	0	1	0	0	0	9870	101	4	2	390	2	MSH2	2	47637246	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	257101	47637246	195562127	1334	6442										
MSH2	4436	hgsc.bcm.edu	37	chr2	47637439	47637439	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaatcttgaggctctcctCatccagattggaccaaagga	8	12	3	2	rs1800151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:47637439C>T	ENST00000233146.2	+	3	796	c.573C>T	c.(571-573)ctC>ctT	p.L191L	MSH2_ENST00000543555.1_Silent_p.L125L|MSH2_ENST00000406134.1_Silent_p.L191L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	191					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCTCTCCTCATCCAGATTG	0.463			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	97	0.019369	0.0696	0.0072	5008	,	,		15087	0.0		0.0	False		,,,				2504	0.0				p.L191L		Atlas-SNP	.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2	198	.	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.C573T						PASS	.	C		254,4152	146.9+/-181.5	4,246,1953	182	176	178	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	573	1.6	1	2	dbSNP_89	178	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	MSH2	NM_000251.1		4,250,6249	TT,TC,CC		0.0465,5.7649,1.9837		191/935	47637439	258,12748	2203	4300	6503	SO:0001819	synonymous_variant	4436	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	TCTCCTCATCCAG	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.573C>T	2.37:g.47637439C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	129	55	0.426357	NM_000251	B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	CCDS1834.1																																																																																			C|0.977;T|0.023	0.023	strong		0.463	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			T	47637439	C	T	47637439	2	4	22	1	0	0	0	0	0	0	0	1	9870	813	29	2		2	MSH2	2	47637439	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193	47637439	195561934	1335	6443										
KCNK12	56660	hgsc.bcm.edu	37	chr2	47748487	47748487	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagcacacgccgagcagGatgaagaggaagttgcccag	14	10	0	2	rs77883212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:47748487G>A	ENST00000327876.4	-	2	1459	c.852C>T	c.(850-852)atC>atT	p.I284I	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	284						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGCCGAGCAGGATGAAGAGGA	0.607													G|||	48	0.00958466	0.0333	0.0058	5008	,	,		13662	0.0		0.0	False		,,,				2504	0.0				p.I284I		Atlas-SNP	.											.	KCNK12	11	.	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	c.C852T						PASS	.	G		151,4255	103.0+/-141.5	2,147,2054	57	54	55		852	1.5	1	2	dbSNP_132	55	4,8594	3.0+/-9.4	0,4,4295	no	coding-synonymous	KCNK12	NM_022055.1		2,151,6349	AA,AG,GG		0.0465,3.4271,1.1919		284/431	47748487	155,12849	2203	4299	6502	SO:0001819	synonymous_variant	56660	exon2			GAGCAGGATGAAG	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.852C>T	2.37:g.47748487G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	81	35	0.432099	NM_022055		Silent	SNP	ENST00000327876.4	37	CCDS1835.1																																																																																			G|0.986;A|0.014	0.014	strong		0.607	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		A	47748487	G	A	47748487	2	1	22	1	0	0	0	0	0	0	0	1	8060	1164	41	2		2	KCNK12	2	47748487	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111048	47748487	195450886	1336	6444										
NRXN1	9378	hgsc.bcm.edu	37	chr2	50280469	50280469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtgctagtagccagggtCgtggtagtctccataattga	13	8	1	1	rs74714098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:50280469C>T	ENST00000406316.2	-	20	5454	c.3978G>A	c.(3976-3978)acG>acA	p.T1326T	NRXN1_ENST00000342183.5_Silent_p.T291T|NRXN1_ENST00000402717.3_Silent_p.T1348T|NRXN1_ENST00000406859.3_Silent_p.T1326T|NRXN1_ENST00000405472.3_Silent_p.T1348T|NRXN1_ENST00000401710.1_Silent_p.T344T|NRXN1_ENST00000404971.1_Silent_p.T1396T|NRXN1_ENST00000401669.2_Silent_p.T1356T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1326	Poly-Thr.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCAGGGTCGTGGTAGTCT	0.473													C|||	82	0.0163738	0.0575	0.0043	5008	,	,		16560	0.0		0.001	False		,,,				2504	0.002				p.T1396T		Atlas-SNP	.											.	NRXN1	1118	.	0			c.G4188A						PASS	.	C	,,	186,4220	119.2+/-156.9	6,174,2023	135	131	132		4188,3978,873	-7.8	0.8	2	dbSNP_131	132	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4,NM_138735.2	,,	6,175,6322	TT,TC,CC		0.0116,4.2215,1.4378	,,	1396/1548,1326/1478,291/443	50280469	187,12819	2203	4300	6503	SO:0001819	synonymous_variant	9378	exon22			CAGGGTCGTGGTA	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3978G>A	2.37:g.50280469C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	204	104	0.509804	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			C|0.983;T|0.017	0.017	strong		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50280469	C	T	50280469	2	4	22	1	0	0	0	0	0	0	0	1	10665	871	31	1		1	NRXN1	2	50280469	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2531982	50280469	192918904	1337	6445										
NRXN1	9378	hgsc.bcm.edu	37	chr2	51254901	51254901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctccctcaccgaggccaGggtgagcttgagcgccgcgg	15	16	1	2	rs1045874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:51254901G>A	ENST00000406316.2	-	2	1987	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	NRXN1_ENST00000406859.3_Silent_p.L171L|NRXN1_ENST00000405472.3_Silent_p.L171L|NRXN1_ENST00000405581.1_Silent_p.L171L|NRXN1_ENST00000402717.3_Silent_p.L171L|NRXN1_ENST00000401669.2_Silent_p.L171L|NRXN1_ENST00000404971.1_Silent_p.L171L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	171	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCGAGGCCAGGGTGAGCTTG	0.677													G|||	1067	0.213059	0.4841	0.0663	5008	,	,		13008	0.1151		0.0736	False		,,,				2504	0.1953				p.L171L		Atlas-SNP	.											NRXN1_ENST00000536085,NS,carcinoma,0,3	NRXN1	1118	3	0			c.C511T						PASS	.	G	,	1545,2567		281,983,792	25	30	28		511,511	2.8	1	2	dbSNP_86	28	625,7733		33,559,3587	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	314,1542,4379	AA,AG,GG		7.4779,37.573,17.4018	,	171/1548,171/1478	51254901	2170,10300	2056	4179	6235	SO:0001819	synonymous_variant	9378	exon2			AGGCCAGGGTGAG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.511C>T	2.37:g.51254901G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	143	73	0.51049	NM_004801	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			G|0.853;A|0.147	0.147	strong		0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	51254901	G	A	51254901	2	1	22	1	0	0	0	0	0	0	0	1	10665	991	35	2		2	NRXN1	2	51254901	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	974432	51254901	191944472	1338	6446										
ASB3	100302652	hgsc.bcm.edu	37	chr2	53955850	53955850	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctaatggataatcttaccCgatgaaataagtatgctcaa	8	7	2	1	rs17521008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:53955850C>T	ENST00000263634.3	-	5	737	c.603G>A	c.(601-603)tcG>tcA	p.S201S	GPR75-ASB3_ENST00000352846.3_Splice_Site_p.S239S|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Splice_Site_p.S128S|GPR75-ASB3_ENST00000394717.2_Splice_Site_p.S128S|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Splice_Site_p.S236S	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.S201S(1)									TAATCTTACCCGATGAAATAA	0.368													C|||	860	0.171725	0.1074	0.2046	5008	,	,		18067	0.1637		0.1799	False		,,,				2504	0.2352				p.S239S		Atlas-SNP	.											ASB3,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.G717A						PASS	.	C	,,,	518,3888	236.8+/-248.8	36,446,1721	85	84	84		717,384,603,384	-11.4	0	2	dbSNP_123	84	1641,6959	302.0+/-305.7	161,1319,2820	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ASB3,GPR75-ASB3	NM_001164165.1,NM_001201965.1,NM_016115.4,NM_145863.2	,,,	197,1765,4541	TT,TC,CC		19.0814,11.7567,16.6	,,,	239/557,128/446,201/519,128/446	53955850	2159,10847	2203	4300	6503	SO:0001630	splice_region_variant	100302652	exon5			CTTACCCGATGAA		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.604+1G>A	2.37:g.53955850C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_001164165		Silent	SNP	ENST00000263634.3	37	CCDS1846.1	348	0.15934065934065933	65	0.13211382113821138	74	0.20441988950276244	85	0.1486013986013986	124	0.16358839050131926	C	0.049	-1.254936	0.01457	0.117567	0.190814	ENSG00000115239	ENST00000406053	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	.	.	.	.	.	.	T	0.03306	-1.1050	3	.	.	.	.	2.567	0.04785	0.2366:0.0914:0.2099:0.4621	rs17521008	.	.	.	R	194	.	.	G	-	1	0	ASB3	53809354	0.000000	0.05858	0.003000	0.11579	0.836000	0.47400	-4.365000	0.00245	-4.807000	0.00031	-2.943000	0.00086	GGG	C|0.834;T|0.166	0.166	strong		0.368	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		Silent	T	53955850	C	T	53955850	5	4	22	1	0	0	0	0	0	0	1	0	1024	666	23	1	977	1	ASB3	2	53955850	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2700949	53955850	189243523	1339	6447										
ERLEC1	27248	hgsc.bcm.edu	37	chr2	54035447	54035447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taattttaggaagatttgcaAtcaactaaagaagagagatt	8	3	1	4	rs1127362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54035447A>G	ENST00000185150.4	+	9	1022	c.891A>G	c.(889-891)caA>caG	p.Q297Q	ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Silent_p.Q297Q|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	297					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.Q297Q(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AAGATTTGCAATCAACTAAAG	0.373													A|||	865	0.172724	0.1044	0.2032	5008	,	,		17434	0.1597		0.1799	False		,,,				2504	0.2495				p.Q297Q		Atlas-SNP	.											ERLEC1,NS,carcinoma,0,1	ERLEC1	32	1	1	Substitution - coding silent(1)	stomach(1)	c.A891G						PASS	.	A	,,,	525,3881	240.3+/-251.1	34,457,1712	83	83	83		891,,,891	-9.9	0.2	2	dbSNP_100	83	1658,6942	304.9+/-307.2	164,1330,2806	no	coding-synonymous,intron,intron,coding-synonymous	ERLEC1,GPR75-ASB3	NM_001127397.2,NM_001127398.2,NM_001164165.1,NM_015701.4	,,,	198,1787,4518	GG,GA,AA		19.2791,11.9156,16.7846	,,,	297/458,,,297/484	54035447	2183,10823	2203	4300	6503	SO:0001819	synonymous_variant	27248	exon9			TTTGCAATCAACT	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.891A>G	2.37:g.54035447A>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	46	22	0.478261	NM_015701	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	CCDS1848.1																																																																																			A|0.835;G|0.165	0.165	strong		0.373	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		G	54035447	A	G	54035447	2	3	22	1	0	0	0	0	0	0	0	1	5231	98	4	2		2	ERLEC1	2	54035447	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	79597	54035447	189163926	1340	6448										
PSME4	23198	hgsc.bcm.edu	37	chr2	54115904	54115904	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accactcaatggtgattccaAcagcagttcaaaaagccagt	7	11	2	1	rs805400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54115904A>G	ENST00000404125.1	-	38	4397	c.4342T>C	c.(4342-4344)Ttg>Ctg	p.L1448L	PSME4_ENST00000421748.2_Silent_p.L592L|PSME4_ENST00000476586.1_5'Flank	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1448					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGATTCCAACAGCAGTTCA	0.368													A|||	1763	0.352037	0.2201	0.2579	5008	,	,		17217	0.4742		0.3072	False		,,,				2504	0.5174				p.L1448L		Atlas-SNP	.											.	PSME4	247	.	0			c.T4342C						PASS	.	A		949,3457	360.6+/-315.3	91,767,1345	126	123	124		4342	2	0.8	2	dbSNP_86	124	2667,5933	428.8+/-356.0	401,1865,2034	no	coding-synonymous	PSME4	NM_014614.2		492,2632,3379	GG,GA,AA		31.0116,21.5388,27.8026		1448/1844	54115904	3616,9390	2203	4300	6503	SO:0001819	synonymous_variant	23198	exon38			ATTCCAACAGCAG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4342T>C	2.37:g.54115904A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	128	63	0.492188	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			A|0.711;G|0.289	0.289	strong		0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		G	54115904	A	G	54115904	2	3	22	1	0	0	0	0	0	0	0	1	12709	40	2	2		2	PSME4	2	54115904	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	80457	54115904	189083469	1341	6449										
PSME4	23198	hgsc.bcm.edu	37	chr2	54120025	54120025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgggtgctttcatgtgAatctgcaaccaaatgttcta	9	9	3	1	rs805408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54120025A>T	ENST00000404125.1	-	36	4166	c.4111T>A	c.(4111-4113)Tca>Aca	p.S1371T	PSME4_ENST00000421748.2_Missense_Mutation_p.S515T	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1371			S -> T (in dbSNP:rs805408).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTCATGTGAATCTGCAACC	0.373													A|||	1749	0.349241	0.2186	0.2522	5008	,	,		16857	0.4742		0.3002	False		,,,				2504	0.5164				p.S1371T		Atlas-SNP	.											.	PSME4	247	.	0			c.T4111A						PASS	.	A	THR/SER	931,3475	355.9+/-313.2	87,757,1359	102	100	101		4111	5.4	1	2	dbSNP_86	101	2595,6005	420.4+/-353.4	385,1825,2090	yes	missense	PSME4	NM_014614.2	58	472,2582,3449	TT,TA,AA		30.1744,21.1303,27.1106	benign	1371/1844	54120025	3526,9480	2203	4300	6503	SO:0001583	missense	23198	exon36			CATGTGAATCTGC	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4111T>A	2.37:g.54120025A>T	ENSP00000384211:p.Ser1371Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	109	57	0.522936	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	658	0.30128205128205127	102	0.2073170731707317	92	0.2541436464088398	230	0.4020979020979021	234	0.3087071240105541	A	9.975	1.226633	0.22542	0.211303	0.301744	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66280	-0.2;-0.2	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.192762	0.47093	D	0.000251	T	0.00012	0.0000	N	0.04746	-0.17	0.21184	P	0.999767317	B;B;B	0.10296	0.003;0.0;0.002	B;B;B	0.11329	0.006;0.001;0.001	T	0.28267	-1.0049	9	0.15952	T	0.53	.	15.4442	0.75216	1.0:0.0:0.0:0.0	rs805408;rs52818353;rs805408	746;515;1371	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	T	515;1371	ENSP00000410830:S515T;ENSP00000384211:S1371T	ENSP00000384211:S1371T	S	-	1	0	PSME4	53973529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	2.060000	0.61445	0.454000	0.30748	TCA	A|0.713;T|0.287	0.287	strong		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54120025	A	T	54120025	3	4	22	1	0	0	0	0	1	0	0	0	12709	246	9	5	1464	5	PSME4	2	54120025	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4121	54120025	189079348	1342	6450										
PSME4	23198	hgsc.bcm.edu	37	chr2	54120820	54120820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatagttaccttaaagagGcaaaaacgtcgtggattaaa	8	5	0	1	rs805412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54120820G>A	ENST00000404125.1	-	35	4084	c.4029C>T	c.(4027-4029)tgC>tgT	p.C1343C	PSME4_ENST00000421748.2_Silent_p.C487C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1343					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTTAAAGAGGCAAAAACGTC	0.294													A|||	2870	0.573083	0.5741	0.4553	5008	,	,		17845	0.7312		0.4374	False		,,,				2504	0.6319				p.C1343C		Atlas-SNP	.											.	PSME4	247	.	0			c.C4029T						PASS	.	A		2298,2106	563.4+/-381.2	607,1084,511	76	85	82		4029	4.5	1	2	dbSNP_86	82	3621,4971	618.1+/-396.7	762,2097,1437	no	coding-synonymous	PSME4	NM_014614.2		1369,3181,1948	AA,AG,GG		42.1439,47.8202,45.5448		1343/1844	54120820	5919,7077	2202	4296	6498	SO:0001819	synonymous_variant	23198	exon35			AAAGAGGCAAAAA	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4029C>T	2.37:g.54120820G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	103	60	0.582524	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			G|0.521;A|0.479	0.479	strong		0.294	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54120820	G	A	54120820	2	1	22	1	0	0	0	0	0	0	0	1	12709	1195	42	2		2	PSME4	2	54120820	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	795	54120820	189078553	1343	6451										
PSME4	23198	hgsc.bcm.edu	37	chr2	54133744	54133744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataagccttacctgactgtaTgaacttgtagataaacgaag	8	7	0	3	rs805316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54133744T>C	ENST00000404125.1	-	26	2989	c.2934A>G	c.(2932-2934)tcA>tcG	p.S978S	PSME4_ENST00000421748.2_Silent_p.S122S	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	978					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.S864S(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTGACTGTATGAACTTGTAG	0.363													T|||	1071	0.213858	0.1082	0.2205	5008	,	,		18843	0.1558		0.2664	False		,,,				2504	0.3579				p.S978S		Atlas-SNP	.											PSME4,NS,carcinoma,0,1	PSME4	247	1	1	Substitution - coding silent(1)	stomach(1)	c.A2934G						PASS	.	T		581,3825	258.6+/-262.5	38,505,1660	165	163	164		2934	-3	1	2	dbSNP_86	164	2403,6197	399.1+/-346.3	332,1739,2229	no	coding-synonymous	PSME4	NM_014614.2		370,2244,3889	CC,CT,TT		27.9419,13.1866,22.9433		978/1844	54133744	2984,10022	2203	4300	6503	SO:0001819	synonymous_variant	23198	exon26			ACTGTATGAACTT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2934A>G	2.37:g.54133744T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	165	68	0.412121	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			T|0.784;C|0.216	0.216	strong		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		C	54133744	T	C	54133744	2	2	22	1	0	0	0	0	0	0	0	1	12709	1451	51	2		2	PSME4	2	54133744	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12924	54133744	189065629	1344	6452										
SPTBN1	6711	hgsc.bcm.edu	37	chr2	54844790	54844790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaccactagctggagggaCggcatggccttcaatgcact	11	12	2	0	rs2229506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54844790C>T	ENST00000356805.4	+	6	893	c.612C>T	c.(610-612)gaC>gaT	p.D204D	SPTBN1_ENST00000333896.5_Silent_p.D191D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	204	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTGGAGGGACGGCATGGCCT	0.458													C|||	568	0.113419	0.1165	0.1052	5008	,	,		19328	0.0506		0.167	False		,,,				2504	0.1247				p.D204D		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C612T						PASS	.	C	,	533,3873	241.5+/-251.9	35,463,1705	179	144	156		612,573	-3.5	1	2	dbSNP_98	156	1334,7266	262.4+/-284.4	116,1102,3082	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	151,1565,4787	TT,TC,CC		15.5116,12.0971,14.3549	,	204/2365,191/2156	54844790	1867,11139	2203	4300	6503	SO:0001819	synonymous_variant	6711	exon6			GAGGGACGGCATG		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.612C>T	2.37:g.54844790C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	201	97	0.482587	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			C|0.859;G|0.000;T|0.140	0.140	strong		0.458	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54844790	C	T	54844790	2	4	22	1	0	0	0	0	0	0	0	1	15118	535	19	1		1	SPTBN1	2	54844790	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	711046	54844790	188354583	1345	6453										
SPTBN1	6711	hgsc.bcm.edu	37	chr2	54895682	54895682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagacaaagagaagcggttCagcctttttggcaaaaagaa	10	6	1	3	rs2229505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:54895682C>T	ENST00000356805.4	+	36	7352	c.7071C>T	c.(7069-7071)ttC>ttT	p.F2357F		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2357					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGAAGCGGTTCAGCCTTTTTG	0.522													C|||	178	0.0355431	0.1165	0.0245	5008	,	,		17151	0.001		0.005	False		,,,				2504	0.001				p.F2357F		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C7071T						PASS	.	C		429,3977		18,393,1792	25	23	24		7071	3.7	1	2	dbSNP_98	24	14,8584		0,14,4285	no	coding-synonymous	SPTBN1	NM_003128.2		18,407,6077	TT,TC,CC		0.1628,9.7367,3.4066		2357/2365	54895682	443,12561	2203	4299	6502	SO:0001819	synonymous_variant	6711	exon36			GCGGTTCAGCCTT		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.7071C>T	2.37:g.54895682C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	43	0.443299	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			C|0.962;T|0.038	0.038	strong		0.522	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54895682	C	T	54895682	2	4	22	1	0	0	0	0	0	0	0	1	15118	825	29	2		2	SPTBN1	2	54895682	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50892	54895682	188303691	1346	6454										
EFEMP1	2202	hgsc.bcm.edu	37	chr2	56145110	56145110	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctgttttcggaaggcaGaggtatcctccatagtggtt	14	7	0	1	rs12292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:56145110G>T	ENST00000394555.2	-	4	642	c.207C>A	c.(205-207)ctC>ctA	p.L69L	EFEMP1_ENST00000355426.3_Silent_p.L69L|EFEMP1_ENST00000424836.2_Silent_p.L11L|EFEMP1_ENST00000394554.1_Silent_p.L69L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	69	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCGGAAGGCAGAGGTATCCTC	0.458													G|||	193	0.0385383	0.1369	0.0159	5008	,	,		21544	0.0		0.001	False		,,,				2504	0.0				p.L69L	GBM(92;934 1319 7714 28760 40110)	Atlas-SNP	.											.	EFEMP1	81	.	0			c.C207A						PASS	.	G	,	526,3880	239.6+/-250.7	28,470,1705	111	112	112		207,207	1.7	1	2	dbSNP_52	112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	EFEMP1	NM_001039348.2,NM_001039349.2	,	28,473,6002	TT,TG,GG		0.0349,11.9383,4.0674	,	69/494,69/494	56145110	529,12477	2203	4300	6503	SO:0001819	synonymous_variant	2202	exon4			AAGGCAGAGGTAT	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.207C>A	2.37:g.56145110G>T		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	229	122	0.532751	NM_001039349	A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	CCDS1857.1	58	0.026556776556776556	53	0.10772357723577236	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	9.474	1.096510	0.20552	0.119383	3.49E-4	ENSG00000115380	ENST00000405693	.	.	.	5.68	1.67	0.24075	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01600	-1.1315	5	0.27785	T	0.31	.	3.1782	0.06576	0.1297:0.1199:0.5058:0.2445	rs12292;rs12292	.	.	.	Y	5	.	ENSP00000384951:S5Y	S	-	2	0	EFEMP1	55998614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.101000	0.31037	0.288000	0.22398	0.650000	0.86243	TCT	G|0.951;T|0.049	0.049	strong		0.458	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			T	56145110	G	T	56145110	2	4	22	1	0	0	0	0	0	0	0	1	4941	929	33	4		4	EFEMP1	2	56145110	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1249428	56145110	187054263	1347	6455										
VRK2	7444	hgsc.bcm.edu	37	chr2	58350340	58350340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cataatgggacaatagagttTaccagcttggatgcccacaa	9	9	0	1	rs17049354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:58350340T>C	ENST00000435505.2	+	11	1393	c.648T>C	c.(646-648)ttT>ttC	p.F216F	VRK2_ENST00000417641.2_Silent_p.F216F|VRK2_ENST00000412104.2_Silent_p.F216F|VRK2_ENST00000440705.2_Silent_p.F193F|VRK2_ENST00000340157.4_Silent_p.F216F			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAATAGAGTTTACCAGCTTGG	0.388													T|||	210	0.0419329	0.152	0.0115	5008	,	,		18926	0.0		0.001	False		,,,				2504	0.0				p.F216F		Atlas-SNP	.											.	VRK2	46	.	0			c.T648C						PASS	.	T	,,,,	501,3905	232.3+/-245.9	34,433,1736	108	105	106		648,648,579,648,648	1.8	1	2	dbSNP_123	106	8,8592	4.3+/-15.6	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VRK2	NM_001130480.2,NM_001130481.2,NM_001130482.2,NM_001130483.2,NM_006296.5	,,,,	34,441,6028	CC,CT,TT		0.093,11.3709,3.9136	,,,,	216/509,216/509,193/486,216/397,216/509	58350340	509,12497	2203	4300	6503	SO:0001819	synonymous_variant	7444	exon8			AGAGTTTACCAGC	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.648T>C	2.37:g.58350340T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_001130480	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	CCDS1859.1																																																																																			T|0.962;C|0.038	0.038	strong		0.388	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		C	58350340	T	C	58350340	2	2	22	1	0	0	0	0	0	0	0	1	17217	1751	61	2		2	VRK2	2	58350340	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2205230	58350340	184849033	1348	6456										
REL	5966	hgsc.bcm.edu	37	chr2	61148988	61148988	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctactatccctcacctgggcCcatctcaagtggattgtcac	7	15	3	0	rs34661029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:61148988C>G	ENST00000295025.8	+	11	1498	c.1178C>G	c.(1177-1179)cCc>cGc	p.P393R	REL_ENST00000394479.3_Missense_Mutation_p.P361R	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	393					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCACCTGGGCCCATCTCAAGT	0.512			A		Hodgkin Lymphoma								C|||	34	0.00678914	0.025	0.0014	5008	,	,		16212	0.0		0.0	False		,,,				2504	0.0				p.P393R		Atlas-SNP	.		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	REL	48	.	0			c.C1178G						PASS	.	C	ARG/PRO	93,4313	74.1+/-112.3	0,93,2110	100	98	99		1178	3.6	0.9	2	dbSNP_126	99	1,8599	1.2+/-3.3	0,1,4299	yes	missense	REL	NM_002908.2	103	0,94,6409	GG,GC,CC		0.0116,2.1108,0.7227	benign	393/620	61148988	94,12912	2203	4300	6503	SO:0001583	missense	5966	exon11			CTGGGCCCATCTC	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1178C>G	2.37:g.61148988C>G	ENSP00000295025:p.Pro393Arg	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	132	132	1	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	10.88	1.476325	0.26511	0.021108	1.16E-4	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.42131	0.98;0.98	5.54	3.63	0.41609	.	0.859295	0.10279	N	0.693783	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.28128	0.201;0.181	B;B	0.20577	0.014;0.03	T	0.09314	-1.0680	10	0.52906	T	0.07	-22.6802	9.6826	0.40078	0.159:0.6877:0.1533:0.0	rs34661029	361;393	Q17RU2;Q04864	.;REL_HUMAN	R	393;361	ENSP00000295025:P393R;ENSP00000377989:P361R	ENSP00000295025:P393R	P	+	2	0	REL	61002492	0.771000	0.28555	0.926000	0.36857	0.866000	0.49608	1.214000	0.32419	1.345000	0.45676	-0.158000	0.13435	CCC	C|0.993;G|0.007	0.007	strong		0.512	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		G	61148988	C	G	61148988	3	3	22	1	0	0	0	0	1	0	0	0	13215	623	22	4	1220	4	REL	2	61148988	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2798648	61148988	182050385	1349	6457										
PUS10	150962	hgsc.bcm.edu	37	chr2	61188643	61188643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattcaatttcaagaacagCgcatacagcctttggtgagt	8	9	2	2	rs113622721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:61188643C>T	ENST00000316752.6	-	10	1090	c.829G>A	c.(829-831)Gct>Act	p.A277T	PUS10_ENST00000407787.1_Missense_Mutation_p.A277T	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	277					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCAAGAACAGCGCATACAGCC	0.348													C|||	87	0.0173722	0.0658	0.0	5008	,	,		19044	0.0		0.0	False		,,,				2504	0.0				p.A277T		Atlas-SNP	.											.	PUS10	49	.	0			c.G829A						PASS	.	C	THR/ALA	177,4229	114.6+/-152.6	4,169,2030	222	236	232		829	-2.4	1	2	dbSNP_132	232	4,8596	3.0+/-9.4	0,4,4296	yes	missense	PUS10	NM_144709.2	58	4,173,6326	TT,TC,CC		0.0465,4.0172,1.3917	benign	277/530	61188643	181,12825	2203	4300	6503	SO:0001583	missense	150962	exon10			GAACAGCGCATAC	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.829G>A	2.37:g.61188643C>T	ENSP00000326003:p.Ala277Thr	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	235	112	0.476596	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	47	0.02152014652014652	47	0.09552845528455285	0	0.0	0	0.0	0	0.0	C	4.727	0.135097	0.09032	0.040172	4.65E-4	ENSG00000162927	ENST00000316752;ENST00000407787	T;T	0.38722	1.12;1.12	5.91	-2.41	0.06562	.	0.476386	0.23506	N	0.047441	T	0.00241	0.0007	N	0.00583	-1.355	0.31617	N	0.650811	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27806	-1.0063	10	0.10902	T	0.67	-7.5462	4.7823	0.13208	0.4331:0.1848:0.0:0.3822	.	277;277	A8K6R4;Q3MIT2	.;PUS10_HUMAN	T	277	ENSP00000326003:A277T;ENSP00000386074:A277T	ENSP00000326003:A277T	A	-	1	0	PUS10	61042147	0.997000	0.39634	0.991000	0.47740	0.993000	0.82548	0.379000	0.20585	-0.138000	0.11434	-0.247000	0.11927	GCT	C|0.985;T|0.015	0.015	strong		0.348	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		T	61188643	C	T	61188643	3	4	22	1	0	0	0	0	1	0	0	0	12831	768	27	1	796	1	PUS10	2	61188643	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39655	61188643	182010730	1350	6458										
USP34	9736	hgsc.bcm.edu	37	chr2	61415492	61415492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaactcagattcttcctcAgctagggtagaatccttgga	11	9	3	2	rs14170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:61415492A>G	ENST00000398571.2	-	80	10462	c.10386T>C	c.(10384-10386)gcT>gcC	p.A3462A	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3462					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTCTTCCTCAGCTAGGGTAG	0.453													A|||	2062	0.411741	0.4781	0.4164	5008	,	,		21759	0.3929		0.4901	False		,,,				2504	0.2577				p.A3462A		Atlas-SNP	.											.	USP34	334	.	0			c.T10386C						PASS	.	A		1798,1958		455,888,535	85	79	80		10386	-0.6	1	2	dbSNP_52	80	4028,4222		984,2060,1081	no	coding-synonymous	USP34	NM_014709.3		1439,2948,1616	GG,GA,AA		48.8242,47.8701,48.5257		3462/3547	61415492	5826,6180	1878	4125	6003	SO:0001819	synonymous_variant	9736	exon80			TTCCTCAGCTAGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10386T>C	2.37:g.61415492A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	1003	0.4592490842490842	240	0.4878048780487805	165	0.4558011049723757	217	0.3793706293706294	381	0.5026385224274407	.	4.254	0.046111	0.08243	0.478701	0.488242	ENSG00000115464	ENST00000411912	.	.	.	5.52	-0.572	0.11745	.	.	.	.	.	.	.	.	.	.	.	0.18873	P	0.999985041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.133	0.06430	0.3824:0.1165:0.3872:0.1138	rs14170;rs3205597;rs3814034;rs11548862;rs17540386;rs17846593;rs17859675;rs61060947	.	.	.	R	1139	.	.	X	-	1	0	USP34	61268996	0.078000	0.21339	0.957000	0.39632	0.987000	0.75469	-0.555000	0.05999	0.049000	0.15920	0.482000	0.46254	TGA	A|0.525;G|0.475	0.475	strong		0.453	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61415492	A	G	61415492	2	3	22	1	0	0	0	0	0	0	0	1	17062	175	7	3		3	USP34	2	61415492	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	226849	61415492	181783881	1351	6459										
USP34	9736	hgsc.bcm.edu	37	chr2	61433919	61433919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgaagataagggcgtgTagacttcaaaaccgaaagaa	10	7	2	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:61433919T>C	ENST00000398571.2	-	71	9098	c.9022A>G	c.(9022-9024)Aca>Gca	p.T3008A	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3008					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAAGGGCGTGTAGACTTCAAA	0.388																																					p.T3008A		Atlas-SNP	.											.	USP34	334	.	0			c.A9022G						PASS	.						69	64	66					2																	61433919		1842	4099	5941	SO:0001583	missense	9736	exon71			GGCGTGTAGACTT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9022A>G	2.37:g.61433919T>C	ENSP00000381577:p.Thr3008Ala	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.090012|3.090012	0.55968|0.55968	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.64438|.	-0.1|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.19590|.	T|.	0.45|.	.|.	16.19|16.19	0.81981|0.81981	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3008|.	Q70CQ2|.	UBP34_HUMAN|.	A|C	2856;3008|767	ENSP00000381577:T3008A|.	ENSP00000263989:T2856A|.	T|Y	-|-	1|2	0|0	USP34|USP34	61287423|61287423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.295000|6.295000	0.72744|0.72744	2.225000|2.225000	0.72522|0.72522	0.460000|0.460000	0.39030|0.39030	ACA|TAC	.	.	none		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61433919	T	C	61433919	3	2	22	1	0	0	0	0	1	0	0	0	17062	1638	57	2	1658	2	USP34	2	61433919	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18427	61433919	181765454	1352	6460										
USP34	9736	hgsc.bcm.edu	37	chr2	61575022	61575023	+	In_Frame_Ins	INS	-	-	TGG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccatcgtggtggtggtgaINStggtggtggtggtggtggtg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:61575022_61575023insTGG	ENST00000398571.2	-	15	2343_2344	c.2267_2268insCCA	c.(2266-2268)cat>caCCAt	p.756_756H>HH		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	756					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ggtggtggtgatggtggtggtg	0.386																																					p.H756delinsHH		Pindel,Atlas-Indel	.											.	USP34	334	.	0			c.2268_2269insCCA						PASS	.																																			SO:0001652	inframe_insertion	9736	exon15			.	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267dupCCA	2.37:g.61575029_61575031dupTGG	ENSP00000381577:p.His760dup	Somatic	41	.	.		WXS	Illumina HiSeq	Phase_I	54	17	0.315	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Ins	INS	ENST00000398571.2	37	CCDS42686.1																																																																																			.	.	none		0.386	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			TGG	61575023	-	TGG	61575022	7	5	22	1	0	1	1	0	0	0	0	0	17062	330	12	0	8636	0	USP34	2	61575022	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	141103	61575022	181624351	1353	6461										
FAM161A	84140	hgsc.bcm.edu	37	chr2	62069358	62069358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaattttgccatagtttcTatgtgggcagccttcaactc	7	10	3	0	rs11125895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:62069358T>C	ENST00000405894.3	-	2	422	c.321A>G	c.(319-321)atA>atG	p.I107M	FAM161A_ENST00000404929.1_Missense_Mutation_p.I107M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	107			I -> M (in dbSNP:rs11125895). {ECO:0000269|PubMed:17974005}.		cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCATAGTTTCTATGTGGGCAG	0.388													T|||	802	0.160144	0.1104	0.1787	5008	,	,		19735	0.1508		0.173	False		,,,				2504	0.2106				p.I107M		Atlas-SNP	.											.	FAM161A	200	.	0			c.A321G						PASS	.	T	MET/ILE,MET/ILE	466,3200		23,420,1390	93	85	88		321,321	1.7	0.3	2	dbSNP_120	88	1522,6640		153,1216,2712	yes	missense,missense	FAM161A	NM_001201543.1,NM_032180.2	10,10	176,1636,4102	CC,CT,TT		18.6474,12.7114,16.8076	benign,benign	107/717,107/661	62069358	1988,9840	1833	4081	5914	SO:0001583	missense	84140	exon2			AGTTTCTATGTGG		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.321A>G	2.37:g.62069358T>C	ENSP00000385893:p.Ile107Met	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	145	63	0.434483	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	332	0.152014652014652	44	0.08943089430894309	78	0.2154696132596685	85	0.1486013986013986	125	0.16490765171503957	T	10.85	1.468017	0.26335	0.127114	0.186474	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.66099	-0.19;-0.19	5.95	1.73	0.24493	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.53688	P	2.199999999996649E-5	B;B	0.16396	0.008;0.017	B;B	0.10450	0.002;0.005	T	0.10268	-1.0637	8	0.30854	T	0.27	-6.3985	7.8459	0.29424	0.0:0.5917:0.0:0.4083	rs11125895;rs17573015;rs52802415;rs59431884;rs11125895	107;107	Q3B820;Q3B820-3	F161A_HUMAN;.	M	107	ENSP00000385158:I107M;ENSP00000385893:I107M	ENSP00000385158:I107M	I	-	3	3	FAM161A	61922862	0.996000	0.38824	0.261000	0.24466	0.960000	0.62799	1.338000	0.33873	0.020000	0.15106	0.533000	0.62120	ATA	T|0.833;C|0.167	0.167	strong		0.388	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62069358	T	C	62069358	3	2	22	1	0	0	0	0	1	0	0	0	5472	1512	53	3	1681	3	FAM161A	2	62069358	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	494336	62069358	181130015	1354	6462										
B3GNT2	10678	hgsc.bcm.edu	37	chr2	62449664	62449664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacctgacctgagggtcacGtcggtggttacgggttttaa	14	8	1	2	rs72893877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:62449664G>A	ENST00000301998.4	+	2	561	c.309G>A	c.(307-309)acG>acA	p.T103T	B3GNT2_ENST00000405767.1_Silent_p.T103T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	103					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TGAGGGTCACGTCGGTGGTTA	0.502													G|||	22	0.00439297	0.0151	0.0029	5008	,	,		18758	0.0		0.0	False		,,,				2504	0.0				p.T103T		Atlas-SNP	.											.	B3GNT2	34	.	0			c.G309A						PASS	.	G		63,4343	56.2+/-92.4	0,63,2140	216	242	233		309	-11.5	0	2	dbSNP_130	233	0,8600		0,0,4300	no	coding-synonymous	B3GNT2	NM_006577.5		0,63,6440	AA,AG,GG		0.0,1.4299,0.4844		103/398	62449664	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	10678	exon2			GGTCACGTCGGTG	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.309G>A	2.37:g.62449664G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	132	76	0.575758	NM_006577	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	CCDS1870.1																																																																																			G|0.996;A|0.004	0.004	strong		0.502	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		A	62449664	G	A	62449664	2	1	22	1	0	0	0	0	0	0	0	1	1257	1132	40	1		1	B3GNT2	2	62449664	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	380306	62449664	180749709	1355	6463										
VPS54	51542	hgsc.bcm.edu	37	chr2	64160864	64160864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctctttgctggatgaaGaatcagtagtacattctggc	11	7	3	2	rs34015596	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:64160864G>C	ENST00000272322.4	-	12	1836	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C	VPS54_ENST00000354504.3_Missense_Mutation_p.S408C|VPS54_ENST00000409558.4_Missense_Mutation_p.S549C			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	561			S -> C (in dbSNP:rs34015596).		growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTGGATGAAGAATCAGTAGT	0.428													G|||	139	0.0277556	0.0998	0.0101	5008	,	,		17370	0.0		0.0	False		,,,				2504	0.0				p.S561C		Atlas-SNP	.											.	VPS54	57	.	0			c.C1682G						PASS	.	G	CYS/SER,CYS/SER	358,4048	185.0+/-212.2	14,330,1859	123	119	120		1646,1682	5.5	1	2	dbSNP_126	120	0,8600		0,0,4300	yes	missense,missense	VPS54	NM_001005739.1,NM_016516.2	112,112	14,330,6159	CC,CG,GG		0.0,8.1253,2.7526	probably-damaging,probably-damaging	549/966,561/978	64160864	358,12648	2203	4300	6503	SO:0001583	missense	51542	exon12			GATGAAGAATCAG	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1682C>G	2.37:g.64160864G>C	ENSP00000272322:p.Ser561Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	88	50	0.568182	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	38	0.0173992673992674	34	0.06910569105691057	4	0.011049723756906077	0	0.0	0	0.0	G	22.3	4.266853	0.80469	0.081253	0.0	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.34859	1.34;1.37;1.37	5.47	5.47	0.80525	.	0.218968	0.49305	D	0.000159	T	0.03220	0.0094	N	0.22421	0.69	0.80722	D	1	D;D;D	0.63880	0.992;0.989;0.993	P;P;P	0.58660	0.794;0.701;0.843	T	0.01182	-1.1426	10	0.48119	T	0.1	.	19.3282	0.94273	0.0:0.0:1.0:0.0	rs34015596	408;561;549	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	C	408;561;549;549;561	ENSP00000346499:S408C;ENSP00000272322:S561C;ENSP00000386980:S549C	ENSP00000272322:S561C	S	-	2	0	VPS54	64014368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.562000	0.82300	2.566000	0.86566	0.563000	0.77884	TCT	G|0.970;C|0.030	0.030	strong		0.428	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		C	64160864	G	C	64160864	3	2	22	1	0	0	0	0	1	0	0	0	17213	942	33	4	1299	4	VPS54	2	64160864	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1711200	64160864	179038509	1356	6464										
VPS54	51542	hgsc.bcm.edu	37	chr2	64189566	64189566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacttccacaatatccagAtaatggctcagcttaaaaga	5	9	1	2	rs17028275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:64189566A>G	ENST00000272322.4	-	7	790	c.636T>C	c.(634-636)taT>taC	p.Y212Y	VPS54_ENST00000354504.3_Silent_p.Y95Y|VPS54_ENST00000409558.4_Silent_p.Y200Y			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	212					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CAATATCCAGATAATGGCTCA	0.358													A|||	622	0.124201	0.3389	0.0447	5008	,	,		21239	0.006		0.0338	False		,,,				2504	0.1053				p.Y212Y		Atlas-SNP	.											.	VPS54	57	.	0			c.T636C						PASS	.	A	,	1289,3117	437.2+/-344.9	191,907,1105	61	58	59		600,636	4.6	1	2	dbSNP_123	59	294,8306	107.8+/-168.5	6,282,4012	no	coding-synonymous,coding-synonymous	VPS54	NM_001005739.1,NM_016516.2	,	197,1189,5117	GG,GA,AA		3.4186,29.2556,12.1713	,	200/966,212/978	64189566	1583,11423	2203	4300	6503	SO:0001819	synonymous_variant	51542	exon7			ATCCAGATAATGG	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.636T>C	2.37:g.64189566A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																			A|0.893;G|0.107	0.107	strong		0.358	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		G	64189566	A	G	64189566	2	3	22	1	0	0	0	0	0	0	0	1	17213	340	12	2		2	VPS54	2	64189566	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	28702	64189566	179009807	1357	6465										
CEP68	23177	hgsc.bcm.edu	37	chr2	65298657	65298657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttcccagaacaacaactAtttgctcaggacatgatgct	7	12	1	2	rs13389745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:65298657A>G	ENST00000377990.2	+	3	630	c.427A>G	c.(427-429)Att>Gtt	p.I143V	CEP68_ENST00000546106.1_Missense_Mutation_p.I143V|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.I143V|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	143					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AACAACAACTATTTGCTCAGG	0.517													A|||	358	0.0714856	0.261	0.0187	5008	,	,		22452	0.0		0.0	False		,,,				2504	0.0				p.I143V		Atlas-SNP	.											.	CEP68	69	.	0			c.A427G						PASS	.	A	VAL/ILE	853,3553	336.3+/-304.3	84,685,1434	104	99	101		427	-0.6	0	2	dbSNP_121	101	3,8597	3.7+/-12.6	0,3,4297	yes	missense	CEP68	NM_015147.2	29	84,688,5731	GG,GA,AA		0.0349,19.36,6.5816	benign	143/758	65298657	856,12150	2203	4300	6503	SO:0001583	missense	23177	exon3			ACAACTATTTGCT	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.427A>G	2.37:g.65298657A>G	ENSP00000367229:p.Ile143Val	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	202	101	0.5	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	148	0.06776556776556776	143	0.29065040650406504	5	0.013812154696132596	0	0.0	0	0.0	A	5.245	0.230663	0.09969	0.1936	3.49E-4	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.28255	1.62;1.62;1.62	6.07	-0.64	0.11493	.	0.631703	0.14683	N	0.304637	T	0.00012	0.0000	N	0.04508	-0.205	0.58432	P	1.0000000000287557E-6	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.42015	-0.9476	9	0.02654	T	1	-1.7066	11.1914	0.48687	0.317:0.2513:0.4316:0.0	rs13389745;rs52830313;rs57922580;rs13389745	131;143;143;143;143	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	V	143;143;143;131	ENSP00000367229:I143V;ENSP00000438306:I143V;ENSP00000260569:I143V	ENSP00000260569:I143V	I	+	1	0	CEP68	65152161	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.938000	0.03938	-0.309000	0.08779	-1.959000	0.00480	ATT	A|0.929;G|0.071	0.071	strong		0.517	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		G	65298657	A	G	65298657	3	3	22	1	0	0	0	0	1	0	0	0	3258	449	16	2	433	2	CEP68	2	65298657	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1109091	65298657	177900716	1358	6466										
CEP68	23177	hgsc.bcm.edu	37	chr2	65299766	65299766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaccctgcccactggggaTatcaaagggcagagcccctt	11	13	1	1	rs55952639	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:65299766T>C	ENST00000377990.2	+	3	1739	c.1536T>C	c.(1534-1536)gaT>gaC	p.D512D	CEP68_ENST00000546106.1_Silent_p.D512D|CEP68_ENST00000537589.1_Silent_p.D124D|CEP68_ENST00000260569.4_Intron|CEP68_ENST00000497039.1_Intron|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	512					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCACTGGGGATATCAAAGGGC	0.567													T|||	1052	0.210064	0.4054	0.1585	5008	,	,		20962	0.2421		0.0567	False		,,,				2504	0.1074				p.D512D		Atlas-SNP	.											.	CEP68	69	.	0			c.T1536C						PASS	.	T		1428,2978	429.9+/-342.4	230,968,1005	80	92	88		1536	-1.5	0	2	dbSNP_129	88	503,8097	140.8+/-197.2	16,471,3813	yes	coding-synonymous	CEP68	NM_015147.2		246,1439,4818	CC,CT,TT		5.8488,32.4103,14.847		512/758	65299766	1931,11075	2203	4300	6503	SO:0001819	synonymous_variant	23177	exon3			TGGGGATATCAAA	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1536T>C	2.37:g.65299766T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	111	55	0.495495	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																			T|0.848;C|0.152	0.152	strong		0.567	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		C	65299766	T	C	65299766	2	2	22	1	0	0	0	0	0	0	0	1	3258	1403	49	2		2	CEP68	2	65299766	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1109	65299766	177899607	1359	6467										
ETAA1	54465	hgsc.bcm.edu	37	chr2	67624739	67624739	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggctagagaggggcctccCgggccagtgcggcagcgaga	20	11	0	2	rs182131786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:67624739C>A	ENST00000272342.5	+	1	289	c.159C>A	c.(157-159)ccC>ccA	p.P53P		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	53						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						AGGGGCCTCCCGGGCCAGTGC	0.721													C|||	5	0.000998403	0.0038	0.0	5008	,	,		11612	0.0		0.0	False		,,,				2504	0.0				p.P53P		Atlas-SNP	.											ETAA1,colon,carcinoma,+2,1	ETAA1	88	1	0			c.C159A						PASS	.	C		10,4090		0,10,2040	5	7	6		159	-0.4	0	2		6	1,8047		0,1,4023	no	coding-synonymous	ETAA1	NM_019002.3		0,11,6063	AA,AC,CC		0.0124,0.2439,0.0905		53/927	67624739	11,12137	2050	4024	6074	SO:0001819	synonymous_variant	54465	exon1			GCCTCCCGGGCCA	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.159C>A	2.37:g.67624739C>A		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	33	23	0.69697	NM_019002	Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	CCDS1882.1																																																																																			C|0.999;A|0.001	0.001	strong		0.721	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		A	67624739	C	A	67624739	2	1	22	1	0	0	0	0	0	0	0	1	5267	639	23	4		4	ETAA1	2	67624739	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2324973	67624739	175574634	1360	6468										
ETAA1	54465	hgsc.bcm.edu	37	chr2	67631541	67631541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatcaaaagtaggttcttTctttgatgattggaatgatc	9	5	3	3	rs145096592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:67631541T>C	ENST00000272342.5	+	5	1857	c.1727T>C	c.(1726-1728)tTc>tCc	p.F576S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	576						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						GTAGGTTCTTTCTTTGATGAT	0.363													T|||	4	0.000798722	0.003	0.0	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0				p.F576S		Atlas-SNP	.											.	ETAA1	88	.	0			c.T1727C						PASS	.	T	SER/PHE	14,4392	20.2+/-43.8	0,14,2189	80	84	83		1727	2.9	1	2	dbSNP_134	83	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ETAA1	NM_019002.3	155	0,15,6487	CC,CT,TT		0.0116,0.3177,0.1153	benign	576/927	67631541	15,12989	2203	4299	6502	SO:0001583	missense	54465	exon5			GTTCTTTCTTTGA	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.1727T>C	2.37:g.67631541T>C	ENSP00000272342:p.Phe576Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	9.471	1.095577	0.20471	0.003177	1.16E-4	ENSG00000143971	ENST00000272342	T	0.19669	2.13	5.3	2.91	0.33838	.	0.634419	0.15834	N	0.242376	T	0.09686	0.0238	L	0.39898	1.24	0.26563	N	0.973703	P	0.42518	0.782	B	0.37650	0.255	T	0.07809	-1.0753	10	0.10902	T	0.67	-36.4777	8.156	0.31169	0.0:0.1631:0.0:0.8369	.	576	Q9NY74	ETAA1_HUMAN	S	576	ENSP00000272342:F576S	ENSP00000272342:F576S	F	+	2	0	ETAA1	67485045	0.146000	0.22672	0.998000	0.56505	0.629000	0.37895	1.768000	0.38511	1.046000	0.40249	0.533000	0.62120	TTC	T|0.999;C|0.001	0.001	strong		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		C	67631541	T	C	67631541	3	2	22	1	0	0	0	0	1	0	0	0	5267	1783	62	2	1745	2	ETAA1	2	67631541	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6802	67631541	175567832	1361	6469										
PNO1	56902	hgsc.bcm.edu	37	chr2	68385240	68385240	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggccggcgaagaggccCgtcttcccacccctctgtgg	13	17	2	1	rs61735657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:68385240C>G	ENST00000263657.2	+	1	265	c.174C>G	c.(172-174)ccC>ccG	p.P58P	WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000406245.2_5'Flank|RP11-474G23.1_ENST00000406334.3_Silent_p.T150T|WDR92_ENST00000492039.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	58						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CGAAGAGGCCCGTCTTCCCAC	0.672													C|||	109	0.0217652	0.0779	0.0	5008	,	,		15102	0.0		0.001	False		,,,				2504	0.0051				p.P58P	NSCLC(83;642 1410 13044 32832 40058)	Atlas-SNP	.											.	PNO1	17	.	0			c.C174G						PASS	.	C		289,4109		7,275,1917	13	19	17		174	-4.9	0.9	2	dbSNP_129	17	17,8575		0,17,4279	no	coding-synonymous	PNO1	NM_020143.2		7,292,6196	GG,GC,CC		0.1979,6.5712,2.3557		58/253	68385240	306,12684	2199	4296	6495	SO:0001819	synonymous_variant	56902	exon1			GAGGCCCGTCTTC	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.174C>G	2.37:g.68385240C>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	39	0.5	NM_020143	A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	ENST00000263657.2	37	CCDS1885.1																																																																																			C|0.979;G|0.021	0.021	strong		0.672	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		G	68385240	C	G	68385240	2	3	22	1	0	0	0	0	0	0	0	1	12161	639	23	4		4	PNO1	2	68385240	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	753699	68385240	174814133	1362	6470										
CNRIP1	25927	hgsc.bcm.edu	37	chr2	68546449	68546449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctggccgaagcgctgcccGtccaccttgtaaaagaccgg	11	14	1	1	rs13025842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:68546449G>A	ENST00000263655.3	-	1	689	c.84C>T	c.(82-84)gaC>gaT	p.D28D	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Silent_p.D28D|CNRIP1_ENST00000409862.1_Silent_p.D28D	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	28										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						AGCGCTGCCCGTCCACCTTGT	0.632													G|||	1044	0.208466	0.1589	0.3026	5008	,	,		15369	0.0794		0.331	False		,,,				2504	0.2157				p.D28D		Atlas-SNP	.											.	CNRIP1	45	.	0			c.C84T						PASS	.	G	,	718,3632		64,590,1521	47	36	40		84,84	2.9	1	2	dbSNP_121	40	2642,5878		429,1784,2047	no	coding-synonymous,coding-synonymous	CNRIP1	NM_001111101.1,NM_015463.2	,	493,2374,3568	AA,AG,GG		31.0094,16.5057,26.1072	,	28/129,28/165	68546449	3360,9510	2175	4260	6435	SO:0001819	synonymous_variant	25927	exon1			CTGCCCGTCCACC	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.84C>T	2.37:g.68546449G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	55	29	0.527273	NM_001111101	B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	ENST00000263655.3	37	CCDS1886.1																																																																																			G|0.780;A|0.220	0.220	strong		0.632	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		A	68546449	G	A	68546449	2	1	22	1	0	0	0	0	0	0	0	1	3633	1136	40	1		1	CNRIP1	2	68546449	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161209	68546449	174652924	1363	6471										
APLF	200558	hgsc.bcm.edu	37	chr2	68729992	68729992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacaaatacattttccgcAttctctctataccctctgaa	3	12	3	2	rs11902811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:68729992A>G	ENST00000303795.4	+	3	469	c.298A>G	c.(298-300)Att>Gtt	p.I100V		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	100	FHA-like.		I -> V (in dbSNP:rs11902811).		cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CATTTTCCGCATTCTCTCTAT	0.373													G|||	804	0.160543	0.4841	0.0461	5008	,	,		16152	0.0357		0.0497	False		,,,				2504	0.047				p.I100V		Atlas-SNP	.											.	APLF	69	.	0			c.A298G						PASS	.	G	VAL/ILE	1877,2529		439,999,765	137	138	137		298	5.1	0.8	2	dbSNP_120	137	456,8144		14,428,3858	yes	missense	APLF	NM_173545.2	29	453,1427,4623	GG,GA,AA		5.3023,42.601,17.9379	benign	100/512	68729992	2333,10673	2203	4300	6503	SO:0001583	missense	200558	exon3			TTCCGCATTCTCT	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.298A>G	2.37:g.68729992A>G	ENSP00000307004:p.Ile100Val	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	142	69	0.485915	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	310	0.14194139194139194	240	0.4878048780487805	15	0.04143646408839779	20	0.03496503496503497	35	0.04617414248021108	N	0.018	-1.473098	0.01044	0.42601	0.053023	ENSG00000169621	ENST00000303795	T	0.18502	2.21	5.09	5.09	0.68999	SMAD/FHA domain (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00413	-1.525	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44081	-0.9351	9	0.02654	T	1	.	11.3629	0.49655	0.0866:0.0:0.9134:0.0	rs11902811;rs57585915;rs11902811	100;100	F8WET0;Q8IW19	.;APLF_HUMAN	V	100	ENSP00000307004:I100V	ENSP00000307004:I100V	I	+	1	0	APLF	68583496	0.999000	0.42202	0.847000	0.33407	0.004000	0.04260	2.004000	0.40854	1.283000	0.44513	-0.213000	0.12676	ATT	A|0.831;G|0.169	0.169	strong		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		G	68729992	A	G	68729992	3	3	22	1	0	0	0	0	1	0	0	0	776	217	8	2	308	2	APLF	2	68729992	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	183543	68729992	174469381	1364	6472										
APLF	200558	hgsc.bcm.edu	37	chr2	68753240	68753240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaatctgcaaagataaaTcccagctaaacacaacccag	5	11	1	2	rs35002937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:68753240T>A	ENST00000303795.4	+	6	841	c.670T>A	c.(670-672)Tcc>Acc	p.S224T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	224			S -> T (in dbSNP:rs35002937).		cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAAAGATAAATCCCAGCTAAA	0.348													A|||	1150	0.229633	0.5991	0.1182	5008	,	,		16373	0.0367		0.1213	False		,,,				2504	0.1196				p.S224T		Atlas-SNP	.											APLF,colon,carcinoma,0,1	APLF	69	1	0			c.T670A						PASS	.	A	THR/SER	2385,2021	561.6+/-380.8	667,1051,485	85	88	87		670	3.6	0.1	2	dbSNP_126	87	1147,7453	766.1+/-407.6	81,985,3234	yes	missense	APLF	NM_173545.2	58	748,2036,3719	AA,AT,TT		13.3372,45.8693,27.1567	benign	224/512	68753240	3532,9474	2203	4300	6503	SO:0001583	missense	200558	exon6			GATAAATCCCAGC	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.670T>A	2.37:g.68753240T>A	ENSP00000307004:p.Ser224Thr	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	142	57	0.401408	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	447	0.20467032967032966	290	0.5894308943089431	43	0.11878453038674033	22	0.038461538461538464	92	0.12137203166226913	a	0.004	-2.284029	0.00251	0.541307	0.133372	ENSG00000169621	ENST00000303795	T	0.22336	1.96	4.75	3.6	0.41247	.	0.790106	0.11661	N	0.541829	T	0.00012	0.0000	N	0.00119	-2.075	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45687	-0.9244	9	0.02654	T	1	.	4.1048	0.10032	0.7239:0.0:0.0962:0.1799	rs35002937	224;224	F8WET0;Q8IW19	.;APLF_HUMAN	T	224	ENSP00000307004:S224T	ENSP00000307004:S224T	S	+	1	0	APLF	68606744	0.270000	0.24152	0.145000	0.22337	0.037000	0.13140	0.150000	0.16263	0.421000	0.25980	-0.344000	0.07964	TCC	T|0.754;A|0.246	0.246	strong		0.348	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		A	68753240	T	A	68753240	3	1	22	1	0	0	0	0	1	0	0	0	776	1435	50	5	692	5	APLF	2	68753240	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23248	68753240	174446133	1365	6473										
ARHGAP25	9938	hgsc.bcm.edu	37	chr2	69040500	69040500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgtggttccctggagccaGtacgaagggttcctgctctg	13	13	1	0	rs2280310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69040500G>A	ENST00000295381.3	+	6	1172	c.753G>A	c.(751-753)caG>caA	p.Q251Q	ARHGAP25_ENST00000409202.3_Silent_p.Q252Q|ARHGAP25_ENST00000409220.1_Silent_p.Q245Q|ARHGAP25_ENST00000497079.1_Silent_p.Q245Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.Q212Q|ARHGAP25_ENST00000409030.3_Silent_p.Q244Q|ARHGAP25_ENST00000544262.1_Silent_p.Q226Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q245Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCCAGTACGAAGGGT	0.512													G|||	1491	0.297724	0.2927	0.3213	5008	,	,		19180	0.4425		0.1839	False		,,,				2504	0.2556				p.Q252Q		Atlas-SNP	.											ARHGAP25,NS,carcinoma,0,1	ARHGAP25	175	1	1	Substitution - coding silent(1)	stomach(1)	c.G756A						scavenged	.	G	,,,	1189,3217	416.7+/-337.7	153,883,1167	108	94	99		756,735,636,732	3.6	1	2	dbSNP_100	99	1653,6947	305.0+/-307.2	171,1311,2818	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	,,,	324,2194,3985	AA,AG,GG		19.2209,26.9859,21.8515	,,,	252/647,245/640,212/607,244/639	69040500	2842,10164	2203	4300	6503	SO:0001819	synonymous_variant	9938	exon6			GAGCCAGTACGAA	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.753G>A	2.37:g.69040500G>A		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		616	0.28205128205128205	140	0.2845528455284553	112	0.30939226519337015	225	0.39335664335664333	139	0.18337730870712401	G	9.214	1.031745	0.19590	0.269859	0.192209	ENSG00000163219	ENST00000497259	.	.	.	5.73	3.62	0.41486	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.38351	-0.9665	3	.	.	.	.	12.3657	0.55226	0.1637:0.0:0.8363:0.0	rs2280310;rs58055279;rs2280310	.	.	.	N	111	.	.	S	+	2	0	ARHGAP25	68894004	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.624000	0.24462	1.432000	0.47375	0.655000	0.94253	AGT	G|0.744;A|0.256	0.256	strong		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69040500	G	A	69040500	2	1	22	1	0	0	0	0	0	0	0	1	874	1020	36	2		2	ARHGAP25	2	69040500	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	287260	69040500	174158873	1366	6474										
ARHGAP25	9938	hgsc.bcm.edu	37	chr2	69049916	69049916	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaaagaactctggagaaGaggaaattgattctttgcag	11	4	2	4	rs61734450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69049916G>A	ENST00000295381.3	+	10	2061	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E549K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E542K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E242K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E509K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E541K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	548					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCTGGAGAAGAGGAAATTGA	0.443													G|||	9	0.00179712	0.0068	0.0	5008	,	,		20738	0.0		0.0	False		,,,				2504	0.0				p.E549K		Atlas-SNP	.											ARHGAP25,NS,carcinoma,0,1	ARHGAP25	175	1	0			c.G1645A						PASS	.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	15,4389	21.2+/-45.6	0,15,2187	70	79	76		1645,1624,1525,1621	4.5	1	2	dbSNP_129	76	0,8598		0,0,4299	yes	missense,missense,missense,missense	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	56,56,56,56	0,15,6486	AA,AG,GG		0.0,0.3406,0.1154	benign,benign,benign,benign	549/647,542/640,509/607,541/639	69049916	15,12987	2202	4299	6501	SO:0001583	missense	9938	exon10			GGAGAAGAGGAAA	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1642G>A	2.37:g.69049916G>A	ENSP00000295381:p.Glu548Lys	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	68	31	0.455882	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.43	1.637568	0.29157	0.003406	0.0	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.41400	2.82;2.82;2.56;1.0;1.0;1.0	5.42	4.53	0.55603	.	0.709828	0.14852	N	0.294619	T	0.26412	0.0645	N	0.19112	0.55	0.80722	D	1	B;P;P;B;B	0.39480	0.361;0.675;0.675;0.355;0.015	B;B;B;B;B	0.36666	0.054;0.154;0.23;0.165;0.011	T	0.02728	-1.1118	10	0.08381	T	0.77	.	13.8458	0.63466	0.0:0.153:0.847:0.0	rs61734450	509;549;542;541;548	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	K	548;549;509;541;542;542;533;242	ENSP00000295381:E548K;ENSP00000386911:E549K;ENSP00000420583:E509K;ENSP00000386863:E541K;ENSP00000386241:E542K;ENSP00000417467:E242K	ENSP00000295381:E548K	E	+	1	0	ARHGAP25	68903420	0.641000	0.27251	0.975000	0.42487	0.790000	0.44656	1.904000	0.39868	1.399000	0.46721	0.557000	0.71058	GAG	G|0.998;A|0.002	0.002	strong		0.443	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69049916	G	A	69049916	3	1	22	1	0	0	0	0	1	0	0	0	874	943	33	2	1723	2	ARHGAP25	2	69049916	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9416	69049916	174149457	1367	6475										
ARHGAP25	9938	hgsc.bcm.edu	37	chr2	69049939	69049939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaattgattctttgcagagGatggtccaagagctacgaaa	11	6	1	3	rs4241344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69049939G>T	ENST00000295381.3	+	10	2084	c.1665G>T	c.(1663-1665)agG>agT	p.R555S	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R556S|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R549S|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R249S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R516S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R548S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	555			R -> S (in dbSNP:rs4241344). {ECO:0000269|PubMed:14702039}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTTTGCAGAGGATGGTCCAAG	0.448													G|||	1332	0.265974	0.1725	0.3156	5008	,	,		20655	0.4435		0.1869	False		,,,				2504	0.2556				p.R556S		Atlas-SNP	.											.	ARHGAP25	175	.	0			c.G1668T						PASS	.	G	SER/ARG,SER/ARG,SER/ARG,SER/ARG	758,3646	286.0+/-278.5	53,652,1497	70	78	75		1668,1647,1548,1644	3.5	0.7	2	dbSNP_111	75	1644,6956	282.4+/-295.5	170,1304,2826	yes	missense,missense,missense,missense	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	110,110,110,110	223,1956,4323	TT,TG,GG		19.1163,17.2116,18.4712	benign,benign,benign,benign	556/647,549/640,516/607,548/639	69049939	2402,10602	2202	4300	6502	SO:0001583	missense	9938	exon10			GCAGAGGATGGTC	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1665G>T	2.37:g.69049939G>T	ENSP00000295381:p.Arg555Ser	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		554|554	0.25366300366300365|0.25366300366300365	78|78	0.15853658536585366|0.15853658536585366	109|109	0.3011049723756906|0.3011049723756906	224|224	0.3916083916083916|0.3916083916083916	143|143	0.18865435356200527|0.18865435356200527	G|G	2.826|2.826	-0.243736|-0.243736	0.05906|0.05906	0.172116|0.172116	0.191163|0.191163	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T	.|0.38560	.|3.05;3.05;2.8;1.13;1.13;1.13	5.42|5.42	3.55|3.55	0.40652|0.40652	.|.	.|0.731496	.|0.14039	.|N	.|0.345562	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.26403|0.26403	P|P	0.976394|0.976394	.|B;B;B;B;B	.|0.06786	.|0.001;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0;0.0	T|T	0.43925|0.43925	-0.9361|-0.9361	4|9	.|0.07030	.|T	.|0.85	.|.	1.9238|1.9238	0.03313|0.03313	0.1885:0.154:0.4993:0.1582|0.1885:0.154:0.4993:0.1582	rs4241344;rs52800040;rs60408659;rs4241344|rs4241344;rs52800040;rs60408659;rs4241344	.|516;556;549;548;555	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.|.;.;.;.;RHG25_HUMAN	V|S	415|555;556;516;548;549;549;540;249	.|ENSP00000295381:R555S;ENSP00000386911:R556S;ENSP00000420583:R516S;ENSP00000386863:R548S;ENSP00000386241:R549S;ENSP00000417467:R249S	.|ENSP00000295381:R555S	G|R	+|+	2|3	0|2	ARHGAP25|ARHGAP25	68903443|68903443	0.001000|0.001000	0.12720|0.12720	0.746000|0.746000	0.31095|0.31095	0.615000|0.615000	0.37417|0.37417	0.193000|0.193000	0.17116|0.17116	0.698000|0.698000	0.31739|0.31739	0.557000|0.557000	0.71058|0.71058	GGA|AGG	G|0.789;T|0.211	0.211	strong		0.448	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		T	69049939	G	T	69049939	3	4	22	1	0	0	0	0	1	0	0	0	874	1165	41	4	1746	4	ARHGAP25	2	69049939	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	69049939	174149434	1368	6476										
BMP10	27302	hgsc.bcm.edu	37	chr2	69093288	69093288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaacacgatgagcaaaggGttatgcttattctgggcact	11	7	1	1	rs2231345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69093288G>T	ENST00000295379.1	-	2	908	c.750C>A	c.(748-750)aaC>aaA	p.N250K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	250			N -> K (in dbSNP:rs2231345).		activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGAGCAAAGGGTTATGCTTAT	0.488													G|||	78	0.0155751	0.0537	0.0101	5008	,	,		22010	0.0		0.0	False		,,,				2504	0.0				p.N250K		Atlas-SNP	.											.	BMP10	70	.	0			c.C750A						PASS	.	G	LYS/ASN	212,4194	129.4+/-166.1	8,196,1999	106	94	98		750	-0.1	0.6	2	dbSNP_98	98	0,8600		0,0,4300	yes	missense	BMP10	NM_014482.1	94	8,196,6299	TT,TG,GG		0.0,4.8116,1.63	benign	250/425	69093288	212,12794	2203	4300	6503	SO:0001583	missense	27302	exon2			CAAAGGGTTATGC	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.750C>A	2.37:g.69093288G>T	ENSP00000295379:p.Asn250Lys	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	349	168	0.481375	NM_014482	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	34	0.015567765567765568	29	0.05894308943089431	5	0.013812154696132596	0	0.0	0	0.0	G	0.876	-0.730477	0.03135	0.048116	0.0	ENSG00000163217	ENST00000295379	T	0.63417	-0.04	5.44	-0.119	0.13543	Transforming growth factor-beta, N-terminal (1);	0.340366	0.33457	N	0.004893	T	0.02193	0.0068	N	0.01705	-0.755	0.26995	N	0.965051	B	0.09022	0.002	B	0.06405	0.002	T	0.07501	-1.0769	10	0.05620	T	0.96	.	0.5561	0.00671	0.2685:0.2748:0.2527:0.204	rs2231345;rs52835894;rs2231345	250	O95393	BMP10_HUMAN	K	250	ENSP00000295379:N250K	ENSP00000295379:N250K	N	-	3	2	BMP10	68946792	0.130000	0.22417	0.596000	0.28811	0.989000	0.77384	-0.205000	0.09411	-0.164000	0.10927	0.655000	0.94253	AAC	G|0.979;T|0.021	0.021	strong		0.488	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		T	69093288	G	T	69093288	3	4	22	1	0	0	0	0	1	0	0	0	1457	1252	44	4	528	4	BMP10	2	69093288	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43349	69093288	174106085	1369	6477										
BMP10	27302	hgsc.bcm.edu	37	chr2	69093312	69093312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttattctgggcactggtAtctatttctagccgtccact	8	11	3	0	rs2231344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69093312A>G	ENST00000295379.1	-	2	884	c.726T>C	c.(724-726)gaT>gaC	p.D242D		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	242					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGGCACTGGTATCTATTTCTA	0.488													G|||	710	0.141773	0.3048	0.0908	5008	,	,		21484	0.1151		0.0606	False		,,,				2504	0.0685				p.D242D		Atlas-SNP	.											.	BMP10	70	.	0			c.T726C						PASS	.	G		1168,3238	713.3+/-408.2	158,852,1193	106	95	98		726	3.2	1	2	dbSNP_98	98	570,8030	793.8+/-407.5	17,536,3747	no	coding-synonymous	BMP10	NM_014482.1		175,1388,4940	GG,GA,AA		6.6279,26.5093,13.3631		242/425	69093312	1738,11268	2203	4300	6503	SO:0001819	synonymous_variant	27302	exon2			ACTGGTATCTATT	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.726T>C	2.37:g.69093312A>G		Somatic	396	1	0.00252525		WXS	Illumina HiSeq	Phase_I	394	203	0.515228	NM_014482	Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																			A|0.870;G|0.130	0.130	strong		0.488	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		G	69093312	A	G	69093312	2	3	22	1	0	0	0	0	0	0	0	1	1457	446	16	2		2	BMP10	2	69093312	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24	69093312	174106061	1370	6478										
GKN2	200504	hgsc.bcm.edu	37	chr2	69172570	69172570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctttgcacagcctccaGcaccgacattatctggaaaa	7	14	1	0	rs73935451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69172570G>A	ENST00000328895.4	-	6	593	c.485C>T	c.(484-486)gCt>gTt	p.A162V	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	162						extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACAGCCTCCAGCACCGACATT	0.343													G|||	95	0.0189696	0.0703	0.0029	5008	,	,		14842	0.0		0.0	False		,,,				2504	0.0				p.A162V		Atlas-SNP	.											.	GKN2	28	.	0			c.C485T						PASS	.	G	VAL/ALA	192,4214	117.5+/-155.4	5,182,2016	86	98	94		485	4.6	0	2	dbSNP_130	94	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GKN2	NM_182536.2	64	5,185,6313	AA,AG,GG		0.0349,4.3577,1.4993	benign	162/185	69172570	195,12811	2203	4300	6503	SO:0001583	missense	200504	exon6			CCTCCAGCACCGA	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"BRICHOS domain containing"	24588	protein-coding gene	gene with protein product	"down regulated in gastric cancer GDDR", "BRICHOS domain containing 1B"					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.485C>T	2.37:g.69172570G>A	ENSP00000329292:p.Ala162Val	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	152	85	0.559211	NM_182536	Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	CCDS33215.1	36	0.016483516483516484	35	0.07113821138211382	1	0.0027624309392265192	0	0.0	0	0.0	G	16.09	3.023294	0.54683	0.043577	3.49E-4	ENSG00000183607	ENST00000328895	T	0.45668	0.89	5.48	4.61	0.57282	.	0.626420	0.16479	N	0.212605	T	0.02688	0.0081	L	0.50333	1.59	0.25024	N	0.991315	P	0.48294	0.908	B	0.34138	0.176	T	0.06075	-1.0847	10	0.66056	D	0.02	-5.4299	9.8712	0.41175	0.0908:0.0:0.9092:0.0	.	162	Q86XP6	GKN2_HUMAN	V	162	ENSP00000329292:A162V	ENSP00000329292:A162V	A	-	2	0	GKN2	69026074	0.014000	0.17966	0.006000	0.13384	0.410000	0.31052	1.135000	0.31454	1.562000	0.49601	0.650000	0.86243	GCT	G|0.983;A|0.017	0.017	strong		0.343	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		A	69172570	G	A	69172570	3	1	22	1	0	0	0	0	1	0	0	0	6425	971	34	2	73	2	GKN2	2	69172570	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79258	69172570	174026803	1371	6479										
GKN2	200504	hgsc.bcm.edu	37	chr2	69173570	69173570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgacccaggtgtatttgCtggagaacatgttgtccaga	11	8	0	3	rs1128272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69173570C>T	ENST00000328895.4	-	5	446	c.338G>A	c.(337-339)aGc>aAc	p.S113N	GKN2_ENST00000481498.1_Missense_Mutation_p.S113N	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	113	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.		S -> N (in dbSNP:rs1128272). {ECO:0000269|PubMed:12975309}.			extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						GGTGTATTTGCTGGAGAACAT	0.398													T|||	1568	0.313099	0.4985	0.1585	5008	,	,		20062	0.378		0.1183	False		,,,				2504	0.3057				p.S113N		Atlas-SNP	.											.	GKN2	28	.	0			c.G338A						PASS	.	T	ASN/SER	1931,2475	623.6+/-394.2	418,1095,690	161	152	155		338	-4.5	0	2	dbSNP_86	155	804,7796	783.1+/-407.6	51,702,3547	yes	missense	GKN2	NM_182536.2	46	469,1797,4237	TT,TC,CC		9.3488,43.8266,21.0288	benign	113/185	69173570	2735,10271	2203	4300	6503	SO:0001583	missense	200504	exon5			TATTTGCTGGAGA	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"BRICHOS domain containing"	24588	protein-coding gene	gene with protein product	"down regulated in gastric cancer GDDR", "BRICHOS domain containing 1B"					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.338G>A	2.37:g.69173570C>T	ENSP00000329292:p.Ser113Asn	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	73	1	NM_182536	Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	CCDS33215.1	575	0.2632783882783883	238	0.483739837398374	58	0.16022099447513813	186	0.32517482517482516	93	0.12269129287598944	T	0.840	-0.742144	0.03088	0.438266	0.093488	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.79554	-1.28;-1.28	4.73	-4.54	0.03452	BRICHOS (2);	2.019600	0.02252	N	0.066721	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27971	-1.0058	9	0.02654	T	1	-18.1259	8.2576	0.31766	0.0:0.2615:0.5461:0.1924	rs1128272;rs3185051;rs6745497;rs17409490;rs52793439;rs57180184;rs1128272	113;113	E5RHQ8;Q86XP6	.;GKN2_HUMAN	N	113	ENSP00000329292:S113N;ENSP00000428538:S113N	ENSP00000329292:S113N	S	-	2	0	GKN2	69027074	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-1.786000	0.01766	-0.988000	0.03489	-0.381000	0.06696	AGC	C|0.754;T|0.246	0.246	strong		0.398	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		T	69173570	C	T	69173570	3	4	22	1	0	0	0	0	1	0	0	0	6425	797	28	2	224	2	GKN2	2	69173570	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1000	69173570	174025803	1372	6480										
GKN1	56287	hgsc.bcm.edu	37	chr2	69204629	69204629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttatttgtgatttcagatTgtctttgctggacttcttgg	10	5	3	2	rs35624281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69204629T>C	ENST00000377938.2	+	2	120	c.57T>C	c.(55-57)atT>atC	p.I19I		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	19					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GATTTCAGATTGTCTTTGCTG	0.373													T|||	674	0.134585	0.0711	0.1268	5008	,	,		19283	0.2708		0.0437	False		,,,				2504	0.1789				p.I19I		Atlas-SNP	.											.	GKN1	24	.	0			c.T57C						PASS	.	T		324,4082	170.9+/-201.2	9,306,1888	215	182	193		57	-2.9	0	2	dbSNP_126	193	323,8277	114.0+/-174.0	11,301,3988	no	coding-synonymous	GKN1	NM_019617.3		20,607,5876	CC,CT,TT		3.7558,7.3536,4.9746		19/200	69204629	647,12359	2203	4300	6503	SO:0001819	synonymous_variant	56287	exon2			TCAGATTGTCTTT	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.57T>C	2.37:g.69204629T>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	183	97	0.530055	NM_019617	Q8IUA9	Silent	SNP	ENST00000377938.2	37	CCDS1891.2																																																																																			T|0.933;C|0.067	0.067	strong		0.373	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		C	69204629	T	C	69204629	2	2	22	1	0	0	0	0	0	0	0	1	6424	1800	63	2		2	GKN1	2	69204629	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31059	69204629	173994744	1373	6481										
GKN1	56287	hgsc.bcm.edu	37	chr2	69204671	69204671	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctttctagctcctgccctAgctaactatgtaagtctcac	6	13	3	0	rs9808077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69204671A>T	ENST00000377938.2	+	2	162	c.99A>T	c.(97-99)ctA>ctT	p.L33L		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	33					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						CTCCTGCCCTAGCTAACTATG	0.363													T|||	1429	0.285343	0.4062	0.2219	5008	,	,		19096	0.3581		0.0954	False		,,,				2504	0.2873				p.L33L		Atlas-SNP	.											.	GKN1	24	.	0			c.A99T						PASS	.	T		1562,2844	669.1+/-402.1	269,1024,910	187	162	171		99	2.6	0.2	2	dbSNP_119	171	742,7858	785.4+/-407.6	46,650,3604	no	coding-synonymous	GKN1	NM_019617.3		315,1674,4514	TT,TA,AA		8.6279,35.4517,17.7149		33/200	69204671	2304,10702	2203	4300	6503	SO:0001819	synonymous_variant	56287	exon2			TGCCCTAGCTAAC	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.99A>T	2.37:g.69204671A>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	176	176	1	NM_019617	Q8IUA9	Silent	SNP	ENST00000377938.2	37	CCDS1891.2																																																																																			A|0.804;T|0.196	0.196	strong		0.363	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		T	69204671	A	T	69204671	2	4	22	1	0	0	0	0	0	0	0	1	6424	407	15	5		5	GKN1	2	69204671	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42	69204671	173994702	1374	6482										
NFU1	27247	hgsc.bcm.edu	37	chr2	69659126	69659126	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgtatggattcttcaacAtatgacagaacctgcattta	8	7	2	2	rs4453725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:69659126A>T	ENST00000410022.2	-	2	279	c.74T>A	c.(73-75)aTg>aAg	p.M25K	NFU1_ENST00000303698.3_Start_Codon_SNP_p.M1K|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	25			M -> K (in dbSNP:rs4453725). {ECO:0000269|PubMed:12915448, ECO:0000269|PubMed:14702039}.		iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)	p.M25K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						ATTCTTCAACATATGACAGAA	0.348													a|||	1588	0.317093	0.2526	0.3818	5008	,	,		16119	0.2103		0.4185	False		,,,				2504	0.364				p.M25K		Atlas-SNP	.											NFU1,NS,carcinoma,0,1	NFU1	19	1	1	Substitution - Missense(1)	prostate(1)	c.T74A						scavenged	.	A	LYS/MET,,,LYS/MET	1235,3171	425.5+/-340.8	158,919,1126	113	107	109		74,,,2	3.9	0.1	2	dbSNP_111	109	3671,4929	526.5+/-381.0	815,2041,1444	yes	missense,utr-5,utr-5,missense	NFU1	NM_001002755.1,NM_001002756.1,NM_001002757.1,NM_015700.2	95,,,95	973,2960,2570	TT,TA,AA		42.686,28.03,37.7211	benign,,,benign	25/255,,,1/231	69659126	4906,8100	2203	4300	6503	SO:0001583	missense	27247	exon2			TTCAACATATGAC	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.74T>A	2.37:g.69659126A>T	ENSP00000387219:p.Met25Lys	Somatic	56	1	0.0178571		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_001002755	B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	CCDS33217.1	676	0.30952380952380953	113	0.22967479674796748	138	0.3812154696132597	107	0.18706293706293706	318	0.41952506596306066	A	3.853	-0.031371	0.07543	0.2803	0.42686	ENSG00000169599	ENST00000410022;ENST00000303698	T;T	0.63096	-0.02;0.01	5.1	3.94	0.45596	.	1.058880	0.07247	N	0.865204	T	0.00012	0.0000	N	0.14661	0.345	0.53688	P	2.999999999997449E-5	B;B	0.19817	0.039;0.007	B;B	0.17722	0.019;0.008	T	0.33394	-0.9870	9	0.72032	D	0.01	-1.1234	6.8836	0.24187	0.8227:0.0:0.1773:0.0	rs4453725;rs4453725	1;25	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	K	25;1	ENSP00000387219:M25K;ENSP00000306965:M1K	ENSP00000306965:M1K	M	-	2	0	NFU1	69512630	0.001000	0.12720	0.121000	0.21740	0.006000	0.05464	0.978000	0.29488	1.066000	0.40716	-0.261000	0.10672	ATG	A|0.636;T|0.364	0.364	strong		0.348	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		T	69659126	A	T	69659126	3	4	22	1	0	0	0	0	1	0	0	0	10386	217	8	5	718	5	NFU1	2	69659126	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	454455	69659126	173540247	1375	6483										
PCYOX1	51449	hgsc.bcm.edu	37	chr2	70485332	70485332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggagctcgtctcctcgctGctggggttgtggctgttgct	16	11	1	0	rs114523411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:70485332G>A	ENST00000433351.2	+	1	64	c.36G>A	c.(34-36)ctG>ctA	p.L12L	PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Silent_p.L12L|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	12					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TCTCCTCGCTGCTGGGGTTGT	0.706													G|||	23	0.00459265	0.0174	0.0	5008	,	,		9844	0.0		0.0	False		,,,				2504	0.0				p.L12L		Atlas-SNP	.											.	PCYOX1	34	.	0			c.G36A						PASS	.	G		49,4355	50.9+/-86.3	0,49,2153	38	39	39		36	-3.9	0	2	dbSNP_132	39	0,8600		0,0,4300	no	coding-synonymous	PCYOX1	NM_016297.3		0,49,6453	AA,AG,GG		0.0,1.1126,0.3768		12/506	70485332	49,12955	2202	4300	6502	SO:0001819	synonymous_variant	51449	exon1			CTCGCTGCTGGGG	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.36G>A	2.37:g.70485332G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	111	40	0.36036	NM_016297	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	ENST00000433351.2	37	CCDS1902.1																																																																																			G|0.995;A|0.005	0.005	strong		0.706	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		A	70485332	G	A	70485332	2	1	22	1	0	0	0	0	0	0	0	1	11608	1306	46	2		2	PCYOX1	2	70485332	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	826206	70485332	172714041	1376	6484										
PCYOX1	51449	hgsc.bcm.edu	37	chr2	70503954	70503954	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtcttggtggccactccGttgaatcgaaaaatgtcgaa	10	9	1	1	rs36012096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:70503954G>T	ENST00000433351.2	+	6	976	c.948G>T	c.(946-948)ccG>ccT	p.P316P	PCYOX1_ENST00000545138.1_Silent_p.P238P|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Silent_p.P239P	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	316					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TGGCCACTCCGTTGAATCGAA	0.368													G|||	464	0.0926518	0.3048	0.0187	5008	,	,		18461	0.001		0.003	False		,,,				2504	0.045				p.P316P		Atlas-SNP	.											.	PCYOX1	34	.	0			c.G948T						PASS	.	G		987,3419	365.1+/-317.3	112,763,1328	54	57	56		948	-5.4	0.9	2	dbSNP_126	56	25,8575	17.3+/-56.4	0,25,4275	no	coding-synonymous	PCYOX1	NM_016297.3		112,788,5603	TT,TG,GG		0.2907,22.4013,7.781		316/506	70503954	1012,11994	2203	4300	6503	SO:0001819	synonymous_variant	51449	exon6			CACTCCGTTGAAT	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.948G>T	2.37:g.70503954G>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	199	89	0.447236	NM_016297	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	ENST00000433351.2	37	CCDS1902.1																																																																																			G|0.926;T|0.074	0.074	strong		0.368	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		T	70503954	G	T	70503954	2	4	22	1	0	0	0	0	0	0	0	1	11608	1132	40	4		4	PCYOX1	2	70503954	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18622	70503954	172695419	1377	6485										
FAM136A	84908	hgsc.bcm.edu	37	chr2	70528092	70528092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcctcacaacagctggcGctgcaccggaacatgagacc	10	15	1	1	rs72904358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:70528092G>A	ENST00000037869.3	-	2	186	c.108C>T	c.(106-108)agC>agT	p.S36S	AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000430566.1_Silent_p.S143S|FAM136A_ENST00000450256.1_Missense_Mutation_p.R102C	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	36						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AACAGCTGGCGCTGCACCGGA	0.577													G|||	492	0.0982428	0.3124	0.0202	5008	,	,		19465	0.001		0.003	False		,,,				2504	0.0624				p.S36S		Atlas-SNP	.											FAM136A,caecum,carcinoma,0,1	FAM136A	14	1	0			c.C108T						scavenged	.	G		1006,3400	373.9+/-321.0	116,774,1313	75	76	76		108	-1.5	1	2	dbSNP_130	76	25,8575	17.3+/-56.4	0,25,4275	no	coding-synonymous	FAM136A	NM_032822.2		116,799,5588	AA,AG,GG		0.2907,22.8325,7.9271		36/139	70528092	1031,11975	2203	4300	6503	SO:0001819	synonymous_variant	84908	exon2			GCTGGCGCTGCAC	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.108C>T	2.37:g.70528092G>A		Somatic	217	2	0.00921659		WXS	Illumina HiSeq	Phase_I	225	113	0.502222	NM_032822	Q96SS3	Silent	SNP	ENST00000037869.3	37	CCDS1904.1	165	0.07554945054945054	151	0.30691056910569103	9	0.024861878453038673	1	0.0017482517482517483	4	0.005277044854881266	G	13.18	2.160192	0.38119	0.228325	0.002907	ENSG00000035141	ENST00000450256	.	.	.	5.01	-1.49	0.08718	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.34030	-0.9845	4	0.87932	D	0	.	10.957	0.47364	0.4179:0.0:0.5821:0.0	.	.	.	.	C	102	.	ENSP00000391468:R102C	R	-	1	0	FAM136A	70381596	0.992000	0.36948	0.966000	0.40874	0.969000	0.65631	0.199000	0.17237	-0.250000	0.09555	-0.263000	0.10527	CGC	G|0.921;A|0.079	0.079	strong		0.577	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		A	70528092	G	A	70528092	2	1	22	1	0	0	0	0	0	0	0	1	5450	1078	38	1		1	FAM136A	2	70528092	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24138	70528092	172671281	1378	6486										
ADD2	119	hgsc.bcm.edu	37	chr2	70933494	70933494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcaaagtaaggctgccccTgcgggggcggcggcgaggca	19	11	1	0	rs201443444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:70933494T>C	ENST00000264436.4	-	3	491	c.47A>G	c.(46-48)cAg>cGg	p.Q16R	ADD2_ENST00000430656.1_Missense_Mutation_p.Q32R|ADD2_ENST00000355733.3_Missense_Mutation_p.Q16R|ADD2_ENST00000413157.2_Missense_Mutation_p.Q16R|ADD2_ENST00000407644.2_Missense_Mutation_p.Q16R|ADD2_ENST00000473232.1_5'Flank	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	16					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGCCCCTGCGGGGGCGG	0.642													T|||	73	0.0145767	0.0204	0.0144	5008	,	,		17067	0.0169		0.0189	False		,,,				2504	0.0				p.Q32R		Atlas-SNP	.											.	ADD2	261	.	0			c.A95G						PASS	.	T	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	67,4337	58.1+/-94.6	1,65,2136	43	48	46		47,95,47,47,47	5.1	1	2	dbSNP_134	46	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	43,43,43,43,43	1,65,6436	CC,CT,TT		0.0,1.5213,0.5152	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	16/727,32/576,16/727,16/560,16/644	70933494	67,12937	2202	4300	6502	SO:0001583	missense	119	exon2			TGCCCCTGCGGGG	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.47A>G	2.37:g.70933494T>C	ENSP00000264436:p.Gln16Arg	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_001185055	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	48	0.02197802197802198	27	0.054878048780487805	6	0.016574585635359115	6	0.01048951048951049	9	0.011873350923482849	T	13.89	2.372523	0.42003	0.015213	0.0	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976;ENST00000447731	T;T;T;T;T;T;T;T	0.30448	1.58;1.58;1.58;1.58;1.58;1.53;1.58;1.58	5.11	5.11	0.69529	.	0.367672	0.26875	N	0.022043	T	0.03520	0.0101	L	0.29908	0.895	0.32494	N	0.539867	B;B;D;B;B;P	0.55385	0.138;0.058;0.971;0.215;0.18;0.867	B;B;B;B;B;B	0.39217	0.065;0.098;0.294;0.065;0.109;0.269	T	0.09400	-1.0676	10	0.52906	T	0.07	-11.8187	13.1749	0.59621	0.0:0.0:0.0:1.0	.	32;16;16;16;16;16	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	R	16;16;16;16;16;16;16;16;16;32;16;16;16	ENSP00000264436:Q16R;ENSP00000384677:Q16R;ENSP00000347972:Q16R;ENSP00000430243:Q16R;ENSP00000388072:Q16R;ENSP00000398112:Q32R;ENSP00000412357:Q16R;ENSP00000412681:Q16R	ENSP00000264436:Q16R	Q	-	2	0	ADD2	70787002	0.024000	0.19004	0.998000	0.56505	0.919000	0.55068	0.633000	0.24598	2.265000	0.75225	0.482000	0.46254	CAG	T|0.978;C|0.022	0.022	strong		0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		C	70933494	T	C	70933494	3	2	22	1	0	0	0	0	1	0	0	0	305	1580	55	3	2370	3	ADD2	2	70933494	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	405402	70933494	172265879	1379	6487										
FIGLA	344018	hgsc.bcm.edu	37	chr2	71012604	71012604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacactgtggcgacaagcGtgtgctggctcaccactgcc	11	14	2	0	rs7566541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71012604G>A	ENST00000332372.6	-	3	556	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	184					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						GGCGACAAGCGTGTGCTGGCT	0.468													A|||	3995	0.797724	0.9743	0.7032	5008	,	,		17286	0.9067		0.5905	False		,,,				2504	0.727				p.H184H		Atlas-SNP	.											.	FIGLA	23	.	0			c.C552T						PASS	.	A		3780,418		1696,388,15	249	247	248		552	-3.1	0	2	dbSNP_116	248	4744,3686		1343,2058,814	no	coding-synonymous	FIGLA	NM_001004311.3		3039,2446,829	AA,AG,GG		43.7248,9.9571,32.4992		184/220	71012604	8524,4104	2099	4215	6314	SO:0001819	synonymous_variant	344018	exon3			ACAAGCGTGTGCT	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.552C>T	2.37:g.71012604G>A		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_001004311		Silent	SNP	ENST00000332372.6	37	CCDS46320.1																																																																																			G|0.225;A|0.774	0.774	strong		0.468	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		A	71012604	G	A	71012604	2	1	22	1	0	0	0	0	0	0	0	1	5890	1136	40	1		1	FIGLA	2	71012604	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79110	71012604	172186769	1380	6488										
CLEC4F	165530	hgsc.bcm.edu	37	chr2	71043607	71043607	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctttttataaaggcctgGgtctgggagtttaaagcatt	11	6	1	0	rs114209954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71043607G>C	ENST00000272367.2	-	4	982	c.906C>G	c.(904-906)acC>acG	p.T302T	CLEC4F_ENST00000426626.1_Silent_p.T302T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	302					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAAAGGCCTGGGTCTGGGAGT	0.403													G|||	63	0.0125799	0.0461	0.0029	5008	,	,		19886	0.0		0.0	False		,,,				2504	0.0				p.T302T	Colon(107;10 2157 6841 26035)	Atlas-SNP	.											.	CLEC4F	95	.	0			c.C906G						PASS	.	G		214,4192	126.1+/-163.2	4,206,1993	89	95	93		906	-0.9	0.3	2	dbSNP_132	93	1,8599		0,1,4299	no	coding-synonymous	CLEC4F	NM_173535.2		4,207,6292	CC,CG,GG		0.0116,4.857,1.6531		302/590	71043607	215,12791	2203	4300	6503	SO:0001819	synonymous_variant	165530	exon4			GGCCTGGGTCTGG	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.906C>G	2.37:g.71043607G>C		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	171	82	0.479532	NM_173535	A4QPA5	Silent	SNP	ENST00000272367.2	37	CCDS1910.1																																																																																			G|0.985;C|0.015	0.015	strong		0.403	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		C	71043607	G	C	71043607	2	2	22	1	0	0	0	0	0	0	0	1	3516	1219	43	4		4	CLEC4F	2	71043607	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31003	71043607	172155766	1381	6489										
CLEC4F	165530	hgsc.bcm.edu	37	chr2	71044076	71044076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaccatctggatgtcagcaTtggtgtttcccagatgatca	9	9	3	2	rs61754946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71044076T>C	ENST00000272367.2	-	4	513	c.437A>G	c.(436-438)aAt>aGt	p.N146S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.N146S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	146					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATGTCAGCATTGGTGTTTCC	0.473													C|||	95	0.0189696	0.0703	0.0029	5008	,	,		20407	0.0		0.0	False		,,,				2504	0.0				p.N146S	Colon(107;10 2157 6841 26035)	Atlas-SNP	.											.	CLEC4F	95	.	0			c.A437G						PASS	.	C	SER/ASN	282,4124	800.8+/-415.6	6,270,1927	142	120	127		437	-2.8	0	2	dbSNP_129	127	1,8599		0,1,4299	yes	missense	CLEC4F	NM_173535.2	46	6,271,6226	CC,CT,TT		0.0116,6.4004,2.1759	benign	146/590	71044076	283,12723	2203	4300	6503	SO:0001583	missense	165530	exon4			TCAGCATTGGTGT	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.437A>G	2.37:g.71044076T>C	ENSP00000272367:p.Asn146Ser	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	254	112	0.440945	NM_173535	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	27	0.012362637362637362	27	0.054878048780487805	0	0.0	0	0.0	0	0.0	C	0.067	-1.210900	0.01555	0.064004	1.16E-4	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01854	4.6;4.63	5.15	-2.79	0.05841	.	0.560537	0.16319	N	0.219645	T	0.00109	0.0003	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40346	-0.9568	10	0.02654	T	1	.	6.1052	0.20069	0.0:0.2149:0.2644:0.5207	.	146;146	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	S	146	ENSP00000272367:N146S;ENSP00000390581:N146S	ENSP00000272367:N146S	N	-	2	0	CLEC4F	70897584	0.066000	0.20996	0.001000	0.08648	0.003000	0.03518	0.005000	0.13129	-0.464000	0.06963	-1.201000	0.01664	AAT	T|0.979;C|0.021	0.021	strong		0.473	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		C	71044076	T	C	71044076	3	2	22	1	0	0	0	0	1	0	0	0	3516	1493	52	2	1348	2	CLEC4F	2	71044076	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	469	71044076	172155297	1382	6490										
CLEC4F	165530	hgsc.bcm.edu	37	chr2	71046536	71046536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgtctcccagaattacGgcttgcacaggcttcggaac	10	11	1	1	rs17006361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71046536G>A	ENST00000272367.2	-	3	295	c.219C>T	c.(217-219)gcC>gcT	p.A73A	CLEC4F_ENST00000426626.1_Silent_p.A73A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	73					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCAGAATTACGGCTTGCACAG	0.532													A|||	198	0.0395367	0.143	0.013	5008	,	,		18946	0.0		0.0	False		,,,				2504	0.0				p.A73A	Colon(107;10 2157 6841 26035)	Atlas-SNP	.											CLEC4F,NS,carcinoma,0,3	CLEC4F	95	3	0			c.C219T						PASS	.	A		584,3822	259.8+/-263.3	32,520,1651	124	107	112		219	0	0	2	dbSNP_123	112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLEC4F	NM_173535.2		32,523,5948	AA,AG,GG		0.0349,13.2547,4.5133		73/590	71046536	587,12419	2203	4300	6503	SO:0001819	synonymous_variant	165530	exon3			AATTACGGCTTGC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.219C>T	2.37:g.71046536G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	167	85	0.508982	NM_173535	A4QPA5	Silent	SNP	ENST00000272367.2	37	CCDS1910.1																																																																																			G|0.948;A|0.052	0.052	strong		0.532	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		A	71046536	G	A	71046536	2	1	22	1	0	0	0	0	0	0	0	1	3516	1103	39	1		1	CLEC4F	2	71046536	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2460	71046536	172152837	1383	6491										
CD207	50489	hgsc.bcm.edu	37	chr2	71058184	71058184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgggagcctgtcctgtcaCggttctgatgggacataggg	15	9	2	1	rs13421115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71058184C>T	ENST00000410009.3	-	6	1029	c.984G>A	c.(982-984)ccG>ccA	p.P328P		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	328					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGTCCTGTCACGGTTCTGATG	0.488													T|||	812	0.162141	0.1959	0.1744	5008	,	,		19961	0.004		0.2734	False		,,,				2504	0.1564				p.P328P		Atlas-SNP	.											.	CD207	47	.	0			c.G984A						PASS	.	T		844,3040		89,666,1187	75	71	72		984	-2.8	0	2	dbSNP_121	72	2258,6028		309,1640,2194	no	coding-synonymous	CD207	NM_015717.3		398,2306,3381	TT,TC,CC		27.2508,21.7302,25.4889		328/329	71058184	3102,9068	1942	4143	6085	SO:0001819	synonymous_variant	50489	exon6			CTGTCACGGTTCT	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.984G>A	2.37:g.71058184C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	104	42	0.403846	NM_015717		Silent	SNP	ENST00000410009.3	37																																																																																				C|0.806;T|0.194	0.194	strong		0.488	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		T	71058184	C	T	71058184	2	4	22	1	0	0	0	0	0	0	0	1	2983	523	19	1		1	CD207	2	71058184	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11648	71058184	172141189	1384	6492										
CD207	50489	hgsc.bcm.edu	37	chr2	71061108	71061108	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacgacctttcagcaactgGacattggtctttacatctga	7	11	3	1	rs17662453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71061108G>A	ENST00000410009.3	-	3	279	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	78					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TCAGCAACTGGACATTGGTCT	0.517													G|||	712	0.142173	0.1059	0.219	5008	,	,		19065	0.0972		0.1839	False		,,,				2504	0.1401				p.V78V		Atlas-SNP	.											.	CD207	47	.	0			c.C234T						PASS	.	T		473,3465		30,413,1526	46	41	42		234	-2	0	2	dbSNP_123	42	1789,6511		190,1409,2551	no	coding-synonymous	CD207	NM_015717.3		220,1822,4077	AA,AG,GG		21.5542,12.0112,18.4834		78/329	71061108	2262,9976	1969	4150	6119	SO:0001819	synonymous_variant	50489	exon3			CAACTGGACATTG	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.234C>T	2.37:g.71061108G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	105	61	0.580952	NM_015717		Silent	SNP	ENST00000410009.3	37																																																																																				G|0.858;A|0.142	0.142	strong		0.517	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		A	71061108	G	A	71061108	2	1	22	1	0	0	0	0	0	0	0	1	2983	1161	41	2		2	CD207	2	71061108	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2924	71061108	172138265	1385	6493										
ANKRD53	79998	hgsc.bcm.edu	37	chr2	71212380	71212380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccttcctggcagctgtgCgatctcatcaaggactcccc	9	15	2	0	rs61732288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71212380C>A	ENST00000360589.3	+	6	1577	c.1543C>A	c.(1543-1545)Cga>Aga	p.R515R	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000457410.1_Silent_p.R481R|ANKRD53_ENST00000441349.1_3'UTR	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	515										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GGCAGCTGTGCGATCTCATCA	0.572											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	184	0.0367412	0.1331	0.0101	5008	,	,		13411	0.0		0.001	False		,,,				2504	0.0				p.R515R		Atlas-SNP	.											.	ANKRD53	55	.	0			c.C1543A						PASS	.	C	,	182,1202		12,158,522	31	32	31		1543,	-0.8	0.1	2	dbSNP_129	31	2,3180		0,2,1589	no	coding-synonymous,utr-3	ANKRD53	NM_001115116.1,NM_024933.3	,	12,160,2111	AA,AC,CC		0.0629,13.1503,4.0298	,	515/531,	71212380	184,4382	692	1591	2283	SO:0001819	synonymous_variant	79998	exon6			GCTGTGCGATCTC	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.1543C>A	2.37:g.71212380C>A		Somatic	134	0	0	1128	WXS	Illumina HiSeq	Phase_I	135	56	0.414815	NM_001115116	Q8IYP8	Silent	SNP	ENST00000360589.3	37	CCDS46321.1																																																																																			C|0.968;A|0.032	0.032	strong		0.572	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		A	71212380	C	A	71212380	2	1	22	1	0	0	0	0	0	0	0	1	679	760	27	4		4	ANKRD53	2	71212380	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	151272	71212380	171986993	1386	6494										
MCEE	84693	hgsc.bcm.edu	37	chr2	71351403	71351403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctgcaattggactgtcaCgtcccaatggatgaagcagt	10	10	1	1	rs6748672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71351403C>A	ENST00000244217.5	-	2	328	c.311G>T	c.(310-312)cGt>cTt	p.R104L	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	104			R -> L (in dbSNP:rs6748672). {ECO:0000269|PubMed:15489334}.		cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGGACTGTCACGTCCCAATGG	0.428													C|||	1009	0.201478	0.2277	0.1729	5008	,	,		17794	0.2282		0.1342	False		,,,				2504	0.228				p.R104L		Atlas-SNP	.											MCEE,NS,carcinoma,-1,1	MCEE	19	1	0			c.G311T						PASS	.	C	LEU/ARG	1003,3403	373.4+/-320.8	113,777,1313	80	76	77		311	-4.6	0	2	dbSNP_116	77	1449,7151	277.2+/-292.7	121,1207,2972	yes	missense	MCEE	NM_032601.3	102	234,1984,4285	AA,AC,CC		16.8488,22.7644,18.8528	benign	104/177	71351403	2452,10554	2203	4300	6503	SO:0001583	missense	84693	exon2			CTGTCACGTCCCA	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.311G>T	2.37:g.71351403C>A	ENSP00000244217:p.Arg104Leu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	151	74	0.490066	NM_032601	Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	377	0.17261904761904762	108	0.21951219512195122	61	0.1685082872928177	102	0.17832167832167833	106	0.13984168865435356	C	10.04	1.241494	0.22711	0.227644	0.168488	ENSG00000124370	ENST00000244217;ENST00000494660;ENST00000486135	T;T;T	0.64438	-0.1;-0.1;-0.1	5.38	-4.61	0.03380	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.710167	0.14406	N	0.321551	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.14438	0.01	B	0.10450	0.005	T	0.06698	-1.0812	9	0.62326	D	0.03	-12.157	6.8041	0.23768	0.1109:0.3619:0.0:0.5272	rs6748672;rs17851835;rs52804383;rs58491237;rs6748672	104	Q96PE7	MCEE_HUMAN	L	104;9;9	ENSP00000244217:R104L;ENSP00000437361:R9L;ENSP00000441569:R9L	ENSP00000244217:R104L	R	-	2	0	MCEE	71204911	0.658000	0.27402	0.000000	0.03702	0.217000	0.24651	0.803000	0.27083	-1.053000	0.03218	-0.259000	0.10710	CGT	C|0.817;A|0.183	0.183	strong		0.428	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		A	71351403	C	A	71351403	3	1	22	1	0	0	0	0	1	0	0	0	9377	536	19	4	227	4	MCEE	2	71351403	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	139023	71351403	171847970	1387	6495										
MCEE	84693	hgsc.bcm.edu	37	chr2	71351641	71351641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggaagaagctcttactgTtggaatgggagcttgaagtc	14	5	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71351641T>C	ENST00000244217.5	-	2	90	c.73A>G	c.(73-75)Aca>Gca	p.T25A	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	25					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCTTACTGTTGGAATGGGA	0.418																																					p.T25A		Atlas-SNP	.											.	MCEE	19	.	0			c.A73G						PASS	.						87	95	92					2																	71351641		2203	4300	6503	SO:0001583	missense	84693	exon2			TTACTGTTGGAAT	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.73A>G	2.37:g.71351641T>C	ENSP00000244217:p.Thr25Ala	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_032601	Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627801	0.28978	.	.	ENSG00000124370	ENST00000244217	T	0.62941	-0.01	5.33	-5.38	0.02673	.	0.745129	0.13573	N	0.377891	T	0.42494	0.1205	L	0.35723	1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26849	-1.0091	10	0.20519	T	0.43	-5.2959	9.1858	0.37170	0.1202:0.5708:0.0:0.3089	.	25	Q96PE7	MCEE_HUMAN	A	25	ENSP00000244217:T25A	ENSP00000244217:T25A	T	-	1	0	MCEE	71205149	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.466000	0.06672	-0.914000	0.03827	0.528000	0.53228	ACA	.	.	none		0.418	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		C	71351641	T	C	71351641	3	2	22	1	0	0	0	0	1	0	0	0	9377	1725	60	2	465	2	MCEE	2	71351641	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	238	71351641	171847732	1388	6496										
MPHOSPH10	10199	hgsc.bcm.edu	37	chr2	71360282	71360282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagagtgaagaacaggaacGtgaagaggatggttcagaga	16	3	1	6	rs13010513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71360282G>A	ENST00000244230.2	+	2	696	c.344G>A	c.(343-345)cGt>cAt	p.R115H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.R115H|MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	115			R -> H (in dbSNP:rs13010513).		negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAACAGGAACGTGAAGAGGAT	0.403													G|||	957	0.191094	0.1891	0.1729	5008	,	,		19641	0.2282		0.1342	False		,,,				2504	0.227				p.R115H		Atlas-SNP	.											.	MPHOSPH10	81	.	0			c.G344A						PASS	.	G	HIS/ARG	862,3544	335.2+/-303.8	83,696,1424	71	69	70		344	2.8	0	2	dbSNP_121	70	1450,7150	276.9+/-292.6	121,1208,2971	yes	missense	MPHOSPH10	NM_005791.2	29	204,1904,4395	AA,AG,GG		16.8605,19.5642,17.7764	benign	115/682	71360282	2312,10694	2203	4300	6503	SO:0001583	missense	10199	exon2			AGGAACGTGAAGA	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.344G>A	2.37:g.71360282G>A	ENSP00000244230:p.Arg115His	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	167	79	0.473054	NM_005791	A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	365	0.1671245421245421	95	0.19308943089430894	61	0.1685082872928177	103	0.18006993006993008	106	0.13984168865435356	G	5.476	0.272902	0.10349	0.195642	0.168605	ENSG00000124383	ENST00000244230	T	0.10288	2.89	4.61	2.81	0.32909	.	0.722586	0.14295	N	0.328668	T	0.00012	0.0000	N	0.14661	0.345	0.29172	P	0.877071	P;P	0.40250	0.709;0.455	B;B	0.28638	0.092;0.083	T	0.47302	-0.9128	9	0.45353	T	0.12	.	5.0267	0.14389	0.1887:0.1724:0.6389:0.0	rs13010513;rs52815322;rs13010513	115;115	B3KPV5;O00566	.;MPP10_HUMAN	H	115	ENSP00000244230:R115H	ENSP00000244230:R115H	R	+	2	0	MPHOSPH10	71213790	0.137000	0.22531	0.003000	0.11579	0.632000	0.37999	0.394000	0.20834	0.696000	0.31696	-0.228000	0.12330	CGT	G|0.825;A|0.175	0.175	strong		0.403	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		A	71360282	G	A	71360282	3	1	22	1	0	0	0	0	1	0	0	0	9725	1145	40	1	350	1	MPHOSPH10	2	71360282	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8641	71360282	171839091	1389	6497										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71577169	71577169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgattaattcatctaacgTacatgttggatcaagaggaa	9	5	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71577169T>C	ENST00000409544.1	+	2	1715	c.1085T>C	c.(1084-1086)gTa>gCa	p.V362A	ZNF638_ENST00000377802.2_Missense_Mutation_p.V362A|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V362A|ZNF638_ENST00000355812.3_Missense_Mutation_p.V362A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	362					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCATCTAACGTACATGTTGGA	0.433																																					p.V362A		Atlas-SNP	.											ZNF638,caecum,carcinoma,+1,1	ZNF638	179	1	0			c.T1085C						scavenged	.						121	118	119					2																	71577169		2203	4300	6503	SO:0001583	missense	27332	exon2			CTAACGTACATGT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1085T>C	2.37:g.71577169T>C	ENSP00000386433:p.Val362Ala	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	4.766	0.142467	0.09083	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.70986	0.07;-0.53;0.69;0.11;1.72;1.72	5.42	3.1	0.35709	.	0.792020	0.11578	N	0.549997	T	0.40222	0.1108	N	0.02539	-0.55	0.23325	N	0.997904	B;B;B;B;B	0.15141	0.012;0.004;0.004;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.002;0.003;0.003;0.002	T	0.28004	-1.0057	10	0.14656	T	0.56	-5.6922	5.8456	0.18663	0.0:0.2085:0.0:0.7915	.	468;362;362;362;362	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	A	362;468;362;362;362;362	ENSP00000386669:V362A;ENSP00000438189:V468A;ENSP00000348066:V362A;ENSP00000367033:V362A;ENSP00000264447:V362A;ENSP00000386433:V362A	ENSP00000264447:V362A	V	+	2	0	ZNF638	71430677	0.997000	0.39634	0.979000	0.43373	0.985000	0.73830	1.328000	0.33758	0.919000	0.36945	0.533000	0.62120	GTA	.	.	none		0.433	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71577169	T	C	71577169	3	2	22	1	0	0	0	0	1	0	0	0	18052	1638	57	2	1087	2	ZNF638	2	71577169	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	216887	71577169	171622204	1390	6498										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71631109	71631109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataagtatggctcctgaaaAcatgaatataaaagatgagg	9	4	0	4	rs3732235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71631109A>G	ENST00000409544.1	+	17	3569	c.2939A>G	c.(2938-2940)aAc>aGc	p.N980S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N980S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N980S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	980			N -> S (in dbSNP:rs3732235). {ECO:0000269|PubMed:11149944}.		regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GCTCCTGAAAACATGAATATA	0.313													A|||	575	0.114816	0.1256	0.0576	5008	,	,		17380	0.1577		0.0805	False		,,,				2504	0.1319				p.N980S		Atlas-SNP	.											.	ZNF638	179	.	0			c.A2939G						PASS	.	A	SER/ASN,SER/ASN	579,3827	254.9+/-260.3	38,503,1662	124	141	135		2939,2939	2.7	1	2	dbSNP_107	135	784,7812	184.6+/-232.5	41,702,3555	yes	missense,missense	ZNF638	NM_001014972.1,NM_014497.3	46,46	79,1205,5217	GG,GA,AA		9.1205,13.1412,10.483	benign,benign	980/1979,980/1979	71631109	1363,11639	2203	4298	6501	SO:0001583	missense	27332	exon17			CTGAAAACATGAA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2939A>G	2.37:g.71631109A>G	ENSP00000386433:p.Asn980Ser	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	223	0.1021062271062271	54	0.10975609756097561	28	0.07734806629834254	77	0.1346153846153846	64	0.08443271767810026	A	8.614	0.889830	0.17540	0.131412	0.091205	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.55052	0.54;1.53;1.53	5.12	2.67	0.31697	.	0.527792	0.17196	N	0.183314	T	0.00412	0.0013	L	0.44542	1.39	0.31384	P	0.67868	B;B;B;B	0.27791	0.094;0.152;0.152;0.189	B;B;B;B	0.24394	0.039;0.053;0.037;0.039	T	0.07693	-1.0759	9	0.22109	T	0.4	0.0015	4.2706	0.10785	0.7283:0.0:0.0958:0.1758	rs3732235;rs52803566;rs56671072;rs3732235	980;980;980;980	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	559;980;980;980	ENSP00000348066:N980S;ENSP00000264447:N980S;ENSP00000386433:N980S	ENSP00000264447:N980S	N	+	2	0	ZNF638	71484617	0.971000	0.33674	0.963000	0.40424	0.985000	0.73830	3.352000	0.52239	0.262000	0.21774	0.528000	0.53228	AAC	A|0.891;G|0.109	0.109	strong		0.313	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		G	71631109	A	G	71631109	3	3	22	1	0	0	0	0	1	0	0	0	18052	43	2	2	3001	2	ZNF638	2	71631109	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53940	71631109	171568264	1391	6499										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71654175	71654175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcttcatttcttctcagGtgcccgaagacccttctact	7	13	4	1	rs1804020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71654175G>A	ENST00000409544.1	+	24	5806	c.5176G>A	c.(5176-5178)Gtg>Atg	p.V1726M	ZNF638_ENST00000264447.4_Missense_Mutation_p.V1726M|ZNF638_ENST00000409407.1_Missense_Mutation_p.V666M|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1726			V -> M (in dbSNP:rs1804020). {ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTCTTCTCAGGTGCCCGAAGA	0.383													A|||	1719	0.343251	0.2262	0.2435	5008	,	,		19941	0.7034		0.2376	False		,,,				2504	0.3098				p.V1726M		Atlas-SNP	.											ZNF638,tonsil,carcinoma,0,1	ZNF638	179	1	0			c.G5176A						PASS	.	A	MET/VAL,MET/VAL	1105,3301	720.2+/-409.0	146,813,1244	122	125	124		5176,5176	3.3	1	2	dbSNP_89	124	2047,6553	719.4+/-406.3	260,1527,2513	yes	missense,missense	ZNF638	NM_001014972.1,NM_014497.3	21,21	406,2340,3757	AA,AG,GG		23.8023,25.0794,24.235	benign,benign	1726/1979,1726/1979	71654175	3152,9854	2203	4300	6503	SO:0001583	missense	27332	exon24			TCTCAGGTGCCCG	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5176G>A	2.37:g.71654175G>A	ENSP00000386433:p.Val1726Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	134	134	1	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	753	0.3447802197802198	101	0.20528455284552846	93	0.2569060773480663	376	0.6573426573426573	183	0.24142480211081793	A	1.046	-0.677433	0.03378	0.250794	0.238023	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.30448	1.53;1.53;1.94	5.85	3.35	0.38373	.	0.089095	0.49916	N	0.000133	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.99999999834298	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37220	-0.9715	9	0.19590	T	0.45	-6.9875	5.2117	0.15320	0.6696:0.1557:0.1747:0.0	rs1804020;rs3198783;rs57778009;rs1804020	1726;1726	Q14966-3;Q14966	.;ZN638_HUMAN	M	1726;1726;666	ENSP00000264447:V1726M;ENSP00000386433:V1726M;ENSP00000386813:V666M	ENSP00000264447:V1726M	V	+	1	0	ZNF638	71507683	0.993000	0.37304	1.000000	0.80357	0.957000	0.61999	0.199000	0.17237	1.048000	0.40298	-0.254000	0.11334	GTG	G|0.710;A|0.290	0.290	strong		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71654175	G	A	71654175	3	1	22	1	0	0	0	0	1	0	0	0	18052	1261	44	2	5266	2	ZNF638	2	71654175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23066	71654175	171545198	1392	6500										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71654450	71654450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagagctgtggacacaaaAaagacaaaacttgaatcctt	8	7	0	3	rs60163900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71654450A>G	ENST00000409544.1	+	24	6081	c.5451A>G	c.(5449-5451)aaA>aaG	p.K1817K	ZNF638_ENST00000264447.4_Silent_p.K1817K|ZNF638_ENST00000409407.1_Silent_p.K757K|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1817					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGGACACAAAAAAGACAAAAC	0.353													A|||	591	0.118011	0.1369	0.0576	5008	,	,		17859	0.1617		0.0795	False		,,,				2504	0.1299				p.K1817K		Atlas-SNP	.											.	ZNF638	179	.	0			c.A5451G						PASS	.	A	,	621,3785	257.0+/-261.6	46,529,1628	74	76	75		5451,5451	3.3	1	2	dbSNP_129	75	782,7818	179.3+/-228.5	41,700,3559	no	coding-synonymous,coding-synonymous	ZNF638	NM_001014972.1,NM_014497.3	,	87,1229,5187	GG,GA,AA		9.093,14.0944,10.7873	,	1817/1979,1817/1979	71654450	1403,11603	2203	4300	6503	SO:0001819	synonymous_variant	27332	exon24			CACAAAAAAGACA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5451A>G	2.37:g.71654450A>G		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	59	58	0.983051	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	CCDS1917.1																																																																																			A|0.893;G|0.107	0.107	strong		0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		G	71654450	A	G	71654450	2	3	22	1	0	0	0	0	0	0	0	1	18052	11	1	2		2	ZNF638	2	71654450	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	275	71654450	171544923	1393	6501										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71658541	71658541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcaggcaaatcagtggCgtctgatgtccctgagggta	12	9	4	2	rs11542286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71658541C>T	ENST00000409544.1	+	26	6365	c.5735C>T	c.(5734-5736)gCg>gTg	p.A1912V	ZNF638_ENST00000264447.4_Missense_Mutation_p.A1912V|ZNF638_ENST00000409407.1_Missense_Mutation_p.A852V|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1912			A -> V (in dbSNP:rs11542286). {ECO:0000269|PubMed:11149944}.		regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAATCAGTGGCGTCTGATGTC	0.433													C|||	582	0.116214	0.1278	0.0576	5008	,	,		16949	0.1647		0.0795	False		,,,				2504	0.1299				p.A1912V		Atlas-SNP	.											ZNF638,NS,carcinoma,-1,1	ZNF638	179	1	0			c.C5735T						PASS	.	C	VAL/ALA,VAL/ALA	584,3822	258.3+/-262.4	38,508,1657	50	49	49		5735,5735	1.9	0	2	dbSNP_120	49	785,7815	185.5+/-233.2	41,703,3556	yes	missense,missense	ZNF638	NM_001014972.1,NM_014497.3	64,64	79,1211,5213	TT,TC,CC		9.1279,13.2547,10.5259	benign,benign	1912/1979,1912/1979	71658541	1369,11637	2203	4300	6503	SO:0001583	missense	27332	exon26			CAGTGGCGTCTGA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5735C>T	2.37:g.71658541C>T	ENSP00000386433:p.Ala1912Val	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	199	199	1	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	221	0.10119047619047619	53	0.10772357723577236	28	0.07734806629834254	77	0.1346153846153846	63	0.08311345646437995	C	11.38	1.621672	0.28889	0.132547	0.091279	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.32023	1.47;1.47;1.87	4.75	1.86	0.25419	.	1.713730	0.03115	N	0.163046	T	0.00178	0.0005	N	0.14661	0.345	0.80722	P	0.0	B;B	0.16396	0.017;0.002	B;B	0.08055	0.003;0.001	T	0.14008	-1.0488	9	0.28530	T	0.3	2.4669	4.3683	0.11235	0.2015:0.5979:0.0:0.2006	rs11542286;rs13383900;rs52791043;rs60248575;rs13383900	1912;1912	Q14966-3;Q14966	.;ZN638_HUMAN	V	1912;1912;852	ENSP00000264447:A1912V;ENSP00000386433:A1912V;ENSP00000386813:A852V	ENSP00000264447:A1912V	A	+	2	0	ZNF638	71512049	0.521000	0.26258	0.006000	0.13384	0.983000	0.72400	1.016000	0.29976	0.263000	0.21812	0.478000	0.44815	GCG	T|0.085;G|0.166	0.085	strong		0.433	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		T	71658541	C	T	71658541	3	4	22	1	0	0	0	0	1	0	0	0	18052	768	27	1	5833	1	ZNF638	2	71658541	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4091	71658541	171540832	1394	6502										
DYSF	8291	hgsc.bcm.edu	37	chr2	71838597	71838597	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcattctgtgtgcttagatCctggcatggggcctgcggaa	13	10	2	1	rs2303606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71838597C>A	ENST00000258104.3	+	38	4285	c.4008C>A	c.(4006-4008)atC>atA	p.I1336I	DYSF_ENST00000409366.1_Silent_p.I1337I|DYSF_ENST00000429174.2_Silent_p.I1336I|DYSF_ENST00000410041.1_Silent_p.I1354I|DYSF_ENST00000394120.2_Silent_p.I1337I|DYSF_ENST00000409651.1_Silent_p.I1368I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.I1323I|DYSF_ENST00000409762.1_Silent_p.I1353I|DYSF_ENST00000409582.3_Silent_p.I1353I|DYSF_ENST00000413539.2_Silent_p.I1367I|DYSF_ENST00000410020.3_Silent_p.I1354I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1336	C2 5. {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						GTGCTTAGATCCTGGCATGGG	0.647													C|||	2251	0.449481	0.3585	0.5331	5008	,	,		17324	0.4792		0.5378	False		,,,				2504	0.3916				p.I1368I		Atlas-SNP	.											.	DYSF	536	.	0			c.C4104A						PASS	.	C	,,,,,,,,,,,,,	1741,2665	514.2+/-368.6	338,1065,800	53	51	52		4011,3966,3966,4008,4101,4059,4059,4104,4011,3969,4062,3969,4062,4008	2.8	1	2	dbSNP_100	52	4392,4208	577.1+/-390.5	1120,2152,1028	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	1458,3217,1828	AA,AC,CC		48.9302,39.5143,47.1552	,,,,,,,,,,,,,	1337/2082,1322/2067,1322/2088,1336/2102,1367/2112,1353/2098,1353/2119,1368/2113,1337/2103,1323/2089,1354/2099,1323/2068,1354/2120,1336/2081	71838597	6133,6873	2203	4300	6503	SO:0001819	synonymous_variant	8291	exon39			TTAGATCCTGGCA	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.4008C>A	2.37:g.71838597C>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	51	1	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																			C|0.529;A|0.471	0.471	strong		0.647	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		A	71838597	C	A	71838597	2	1	22	1	0	0	0	0	0	0	0	1	4859	845	30	4		4	DYSF	2	71838597	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180056	71838597	171360776	1395	6503										
DYSF	8291	hgsc.bcm.edu	37	chr2	71838661	71838661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatctcctcccccagcctcGtggtagagtgtgggggccag	13	14	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:71838661G>A	ENST00000258104.3	+	38	4349	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	DYSF_ENST00000429174.2_Missense_Mutation_p.V1358M|DYSF_ENST00000410041.1_Missense_Mutation_p.V1376M|DYSF_ENST00000394120.2_Missense_Mutation_p.V1359M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.V1390M|DYSF_ENST00000409744.1_Missense_Mutation_p.V1345M|DYSF_ENST00000409762.1_Missense_Mutation_p.V1375M|DYSF_ENST00000409582.3_Missense_Mutation_p.V1375M|DYSF_ENST00000413539.2_Missense_Mutation_p.V1389M|DYSF_ENST00000410020.3_Missense_Mutation_p.V1376M|DYSF_ENST00000409366.1_Missense_Mutation_p.V1359M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1358	C2 5. {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						CCCCAGCCTCGTGGTAGAGTG	0.567																																					p.V1390M		Atlas-SNP	.											DYSF_ENST00000410020,NS,carcinoma,0,2	DYSF	536	2	0			c.G4168A						PASS	.						58	57	57					2																	71838661		2203	4300	6503	SO:0001583	missense	8291	exon39			AGCCTCGTGGTAG	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.4072G>A	2.37:g.71838661G>A	ENSP00000258104:p.Val1358Met	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	66	31	0.469697	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054472	0.55218	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.54	4.65	0.58169	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.213647	0.42548	D	0.000687	D	0.86053	0.5841	L	0.54323	1.7	0.32057	N	0.596244	D;D;D;D;D;D;P;P;B;P;B;P;P;D;P	0.71674	0.984;0.998;0.998;0.995;0.995;0.995;0.851;0.773;0.415;0.769;0.077;0.46;0.769;0.995;0.807	P;P;P;P;P;D;P;P;B;B;B;B;B;P;P	0.66497	0.843;0.855;0.9;0.9;0.9;0.944;0.554;0.684;0.433;0.433;0.087;0.238;0.433;0.855;0.569	D	0.85452	0.1161	10	0.40728	T	0.16	-21.6668	8.921	0.35612	0.1689:0.0:0.8311:0.0	.	101;1390;1376;1359;1345;1376;1345;1375;1344;1389;1375;1358;1344;1359;1358	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	1389;1375;1375;1358;1358;1390;1359;1345;1359;1376;1376	ENSP00000407046:V1389M;ENSP00000387137:V1375M;ENSP00000386547:V1375M;ENSP00000398305:V1358M;ENSP00000258104:V1358M;ENSP00000386683:V1390M;ENSP00000377678:V1359M;ENSP00000386285:V1345M;ENSP00000386512:V1359M;ENSP00000386881:V1376M;ENSP00000386617:V1376M	ENSP00000258104:V1358M	V	+	1	0	DYSF	71692169	0.054000	0.20591	0.944000	0.38274	0.395000	0.30598	0.451000	0.21779	2.623000	0.88846	0.561000	0.74099	GTG	.	.	none		0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		A	71838661	G	A	71838661	3	1	22	1	0	0	0	0	1	0	0	0	4859	1145	40	1	4414	1	DYSF	2	71838661	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64	71838661	171360712	1396	6504										
EXOC6B	23233	hgsc.bcm.edu	37	chr2	72707874	72707874	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgtattgataataatctgAacaagctagaaaacaacaaa	6	5	1	3	rs653220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:72707874A>G	ENST00000272427.6	-	17	1801	c.1671T>C	c.(1669-1671)gtT>gtC	p.V557V	EXOC6B_ENST00000410104.1_Silent_p.V557V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	557					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TAATAATCTGAACAAGCTAGA	0.363													G|||	1741	0.347644	0.9546	0.2118	5008	,	,		20736	0.0069		0.2346	False		,,,				2504	0.091				p.V557V		Atlas-SNP	.											.	EXOC6B	93	.	0			c.T1671C						PASS	.	G		2983,751		1207,569,91	54	54	54		1671	-0.5	1	2	dbSNP_83	54	1882,6312		214,1454,2429	yes	coding-synonymous	EXOC6B	NM_015189.1		1421,2023,2520	GG,GA,AA		22.968,20.1125,40.7864		557/812	72707874	4865,7063	1867	4097	5964	SO:0001819	synonymous_variant	23233	exon17			AATCTGAACAAGC	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1671T>C	2.37:g.72707874A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	85	84	0.988235	NM_015189	B8ZZY3	Silent	SNP	ENST00000272427.6	37	CCDS46333.1																																																																																			A|0.639;G|0.361	0.361	strong		0.363	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		G	72707874	A	G	72707874	2	3	22	1	0	0	0	0	0	0	0	1	5309	233	9	2		2	EXOC6B	2	72707874	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	869213	72707874	170491499	1397	6505										
SFXN5	94097	hgsc.bcm.edu	37	chr2	73226090	73226090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtactcacagcaatggagacGgcgctgatgacagctcccag	12	12	1	3	rs12233055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73226090G>A	ENST00000272433.2	-	9	652	c.522C>T	c.(520-522)gcC>gcT	p.A174A	SFXN5_ENST00000410065.1_Silent_p.A174A|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	174					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAATGGAGACGGCGCTGATGA	0.592													g|||	1689	0.33726	0.4259	0.2795	5008	,	,		20111	0.4931		0.2197	False		,,,				2504	0.2188				p.A174A		Atlas-SNP	.											SFXN5,NS,carcinoma,-2,1	SFXN5	31	1	0			c.C522T						PASS	.	A		1841,2565	532.6+/-373.5	402,1037,764	112	101	105		522	-12.1	0.3	2	dbSNP_120	105	1897,6703	334.0+/-320.8	200,1497,2603	no	coding-synonymous	SFXN5	NM_144579.2		602,2534,3367	AA,AG,GG		22.0581,41.7839,28.7406		174/341	73226090	3738,9268	2203	4300	6503	SO:0001819	synonymous_variant	94097	exon9			GGAGACGGCGCTG	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.522C>T	2.37:g.73226090G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	113	59	0.522124	NM_144579	A8K116|Q494Y3|Q53T29	Silent	SNP	ENST00000272433.2	37	CCDS1922.1	772	0.3534798534798535	219	0.4451219512195122	100	0.27624309392265195	280	0.48951048951048953	173	0.22823218997361477	g	8.569	0.879549	0.17467	0.417839	0.220581	ENSG00000144040	ENST00000411783	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999129714	.	.	.	.	.	.	T	0.10776	-1.0615	3	.	.	.	-7.2324	12.5892	0.56434	0.7043:0.1036:0.1921:0.0	rs12233055;rs12233055	.	.	.	C	164	.	.	R	-	1	0	SFXN5	73079598	0.011000	0.17503	0.287000	0.24848	0.837000	0.47467	-1.585000	0.02112	-2.225000	0.00724	-2.203000	0.00303	CGT	G|0.682;A|0.318	0.318	strong		0.592	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		A	73226090	G	A	73226090	2	1	22	1	0	0	0	0	0	0	0	1	14198	1103	39	1		1	SFXN5	2	73226090	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	518216	73226090	169973283	1398	6506										
RAB11FIP5	26056	hgsc.bcm.edu	37	chr2	73339675	73339675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccagggcccccggcggCagctcgaaggagcactcctc	12	18	0	0	rs143108301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73339675C>T	ENST00000258098.6	-	1	471	c.231G>A	c.(229-231)ctG>ctA	p.L77L	RP11-44N22.3_ENST00000608612.1_RNA	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	77	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCCCCGGCGGCAGCTCGAAGG	0.736													C|||	2	0.000399361	0.0008	0.0	5008	,	,		10052	0.001		0.0	False		,,,				2504	0.0				p.L77L		Atlas-SNP	.											.	RAB11FIP5	66	.	0			c.G231A						PASS	.	C		4,4354		0,4,2175	11	10	10		231	1.9	1	2	dbSNP_134	10	0,8504		0,0,4252	no	coding-synonymous	RAB11FIP5	NM_015470.2		0,4,6427	TT,TC,CC		0.0,0.0918,0.0311		77/654	73339675	4,12858	2179	4252	6431	SO:0001819	synonymous_variant	26056	exon1			CGGCGGCAGCTCG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.231G>A	2.37:g.73339675C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_015470	O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	CCDS1923.1																																																																																			C|1.000;T|0.000	0.000	weak		0.736	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		T	73339675	C	T	73339675	2	4	22	1	0	0	0	0	0	0	0	1	12897	697	25	2		2	RAB11FIP5	2	73339675	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	113585	73339675	169859698	1399	6507										
FBXO41	150726	hgsc.bcm.edu	37	chr2	73490412	73490412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagggcccaaatgacctcAtggcccacggggtctgtggc	13	15	2	1	rs34363861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73490412A>G	ENST00000521871.1	-	9	2515	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	FBXO41_ENST00000295133.5_Silent_p.H761H|FBXO41_ENST00000520530.2_Silent_p.H700H			Q8TF61	FBX41_HUMAN	F-box protein 41	700										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AAATGACCTCATGGCCCACGG	0.587													G|||	2629	0.52496	0.8502	0.4294	5008	,	,		16504	0.3849		0.4821	False		,,,				2504	0.3415				p.H700H		Atlas-SNP	.											.	FBXO41	82	.	0			c.T2100C						PASS	.	G		3063,845		1234,595,125	20	24	22		2100	-10	0.2	2	dbSNP_126	22	3941,4291		983,1975,1158	no	coding-synonymous	FBXO41	NM_001080410.2		2217,2570,1283	GG,GA,AA		47.8741,21.6223,42.3064		700/876	73490412	7004,5136	1954	4116	6070	SO:0001819	synonymous_variant	150726	exon8			GACCTCATGGCCC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2100T>C	2.37:g.73490412A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_001080410	G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	CCDS46337.2																																																																																			A|0.461;G|0.539	0.539	strong		0.587	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			G	73490412	A	G	73490412	2	3	22	1	0	0	0	0	0	0	0	1	5750	214	8	2		2	FBXO41	2	73490412	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150737	73490412	169708961	1400	6508										
FBXO41	150726	hgsc.bcm.edu	37	chr2	73492614	73492614	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctgcgagggggctgggAccgctctgagcccccgttgg	18	12	1	2	rs526106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73492614A>T	ENST00000521871.1	-	5	1775	c.1360T>A	c.(1360-1362)Tcc>Acc	p.S454T	FBXO41_ENST00000295133.5_Missense_Mutation_p.S515T|FBXO41_ENST00000520530.2_Missense_Mutation_p.S454T			Q8TF61	FBX41_HUMAN	F-box protein 41	454				S -> T (in Ref. 3; BAB85526). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGGGGCTGGGACCGCTCTGAG	0.716													A|||	1654	0.330272	0.2837	0.2421	5008	,	,		11856	0.4752		0.2674	False		,,,				2504	0.3712				p.S454T		Atlas-SNP	.											.	FBXO41	82	.	0			c.T1360A						PASS	.	A	THR/SER	1058,2838		144,770,1034	15	18	17		1360	-0.8	0.9	2	dbSNP_83	17	2135,6093		283,1569,2262	no	missense	FBXO41	NM_001080410.2	58	427,2339,3296	TT,TA,AA		25.948,27.1561,26.3362	benign	454/876	73492614	3193,8931	1948	4114	6062	SO:0001583	missense	150726	exon4			GCTGGGACCGCTC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1360T>A	2.37:g.73492614A>T	ENSP00000428646:p.Ser454Thr	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	26	10	0.384615	NM_001080410	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	714	0.3269230769230769	138	0.2804878048780488	100	0.27624309392265195	275	0.4807692307692308	201	0.26517150395778366	A	13.31	2.199095	0.38806	0.271561	0.25948	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.52	-0.818	0.10833	.	0.643686	0.15471	N	0.260595	T	0.00012	0.0000	N	0.14661	0.345	0.44611	P	0.0024170000000000025	.	.	.	.	.	.	T	0.43523	-0.9386	6	0.07030	T	0.85	.	0.8479	0.01166	0.1821:0.347:0.2234:0.2476	rs526106	.	.	.	T	515;454	.	ENSP00000295133:S515T	S	-	1	0	FBXO41	73346122	0.998000	0.40836	0.946000	0.38457	0.962000	0.63368	0.752000	0.26362	-0.113000	0.11958	0.454000	0.30748	TCC	A|0.673;T|0.327	0.327	strong		0.716	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			T	73492614	A	T	73492614	3	4	22	1	0	0	0	0	1	0	0	0	5750	275	10	5	1303	5	FBXO41	2	73492614	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2202	73492614	169706759	1401	6509										
EGR4	1961	hgsc.bcm.edu	37	chr2	73518716	73518716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcgcgcgaagcggcggcCgcacacgtcgcaagcaaaag	15	14	0	0	rs141733943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73518716C>T	ENST00000545030.1	-	2	1713	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S	EGR4_ENST00000436467.2_Missense_Mutation_p.G444S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	547					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGCGGCGGCCGCACACGTCG	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12645	0.0		0.0	False		,,,				2504	0.0				p.G547S		Atlas-SNP	.											.	EGR4	52	.	0			c.G1639A						PASS	.	C	SER/GLY	2,4404		0,2,2201	24	28	27		1639	4.8	1	2	dbSNP_134	27	0,8596		0,0,4298	no	missense	EGR4	NM_001965.3	56	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	547/590	73518716	2,13000	2203	4298	6501	SO:0001583	missense	1961	exon2			GGCGGCCGCACAC		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1639G>A	2.37:g.73518716C>T	ENSP00000445626:p.Gly547Ser	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	176	99	0.5625	NM_001965	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	31	5.103602	0.94245	4.54E-4	0.0	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.07216	3.21;3.21	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.20780	0.0500	L	0.37897	1.145	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.77557	0.989;0.99	T	0.00715	-1.1597	10	0.87932	D	0	-21.0702	16.5595	0.84535	0.0:1.0:0.0:0.0	.	444;547	Q05215;G3V1T5	EGR4_HUMAN;.	S	547;444	ENSP00000445626:G547S;ENSP00000419687:G444S	ENSP00000419687:G444S	G	-	1	0	EGR4	73372224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.631000	0.83237	2.478000	0.83669	0.655000	0.94253	GGC	C|1.000;T|0.000	0.000	weak		0.662	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		T	73518716	C	T	73518716	3	4	22	1	0	0	0	0	1	0	0	0	4974	652	23	1	134	1	EGR4	2	73518716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26102	73518716	169680657	1402	6510										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73676189	73676189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtttctggaccagctgaCggaaagactgggacaccagc	13	11	1	2	rs77517267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73676189C>T	ENST00000264448.6	+	8	2643	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D	ALMS1_ENST00000377715.1_Silent_p.D844D|ALMS1_ENST00000409009.1_Silent_p.D802D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	844	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGCTGACGGAAAGACTG	0.507													C|||	183	0.0365415	0.1324	0.0115	5008	,	,		19422	0.0		0.0	False		,,,				2504	0.0				p.D844D		Atlas-SNP	.											ALMS1,NS,carcinoma,+2,1	ALMS1	384	1	0			c.C2532T						PASS	.	C		414,3376		30,354,1511	76	79	78		2532	-6.5	0	2	dbSNP_132	78	3,8219		0,3,4108	no	coding-synonymous	ALMS1	NM_015120.4		30,357,5619	TT,TC,CC		0.0365,10.9235,3.4715		844/4168	73676189	417,11595	1895	4111	6006	SO:0001819	synonymous_variant	7840	exon8			AGCTGACGGAAAG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2532C>T	2.37:g.73676189C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	157	79	0.503185	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			C|0.976;T|0.024	0.024	strong		0.507	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73676189	C	T	73676189	2	4	22	1	0	0	0	0	0	0	0	1	535	535	19	1		1	ALMS1	2	73676189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	157473	73676189	169523184	1403	6511										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73676315	73676315	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaagaggctctgaaagtAtcaattgttcctggaccagg	11	8	2	3	rs76266696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73676315A>G	ENST00000264448.6	+	8	2769	c.2658A>G	c.(2656-2658)gtA>gtG	p.V886V	ALMS1_ENST00000377715.1_Silent_p.V886V|ALMS1_ENST00000409009.1_Silent_p.V844V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	886	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTGAAAGTATCAATTGTTC	0.463													A|||	39	0.00778754	0.028	0.0029	5008	,	,		20537	0.0		0.0	False		,,,				2504	0.0				p.V886V		Atlas-SNP	.											.	ALMS1	384	.	0			c.A2658G						PASS	.	A		90,3660		1,88,1786	98	102	101		2658	-0.3	0	2	dbSNP_132	101	2,8196		0,2,4097	no	coding-synonymous	ALMS1	NM_015120.4		1,90,5883	GG,GA,AA		0.0244,2.4,0.77		886/4168	73676315	92,11856	1875	4099	5974	SO:0001819	synonymous_variant	7840	exon8			GAAAGTATCAATT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2658A>G	2.37:g.73676315A>G		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	264	128	0.484848	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			A|0.994;G|0.006	0.006	strong		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73676315	A	G	73676315	2	3	22	1	0	0	0	0	0	0	0	1	535	436	16	2		2	ALMS1	2	73676315	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126	73676315	169523058	1404	6512										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73716810	73716810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagccagaagctgtatgtaGtcacattattattgagagcc	9	8	1	2	rs3820700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73716810G>A	ENST00000264448.6	+	10	7832	c.7721G>A	c.(7720-7722)aGt>aAt	p.S2574N	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2532N|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2574			S -> N (in dbSNP:rs3820700). {ECO:0000269|PubMed:15489334}.		endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGTATGTAGTCACATTATT	0.418													G|||	635	0.126797	0.087	0.0548	5008	,	,		18901	0.2014		0.1262	False		,,,				2504	0.1554				p.S2574N		Atlas-SNP	.											.	ALMS1	384	.	0			c.G7721A						PASS	.	G	ASN/SER	376,3454		17,342,1556	141	133	135		7721	4.4	1	2	dbSNP_107	135	1073,7159		68,937,3111	yes	missense	ALMS1	NM_015120.4	46	85,1279,4667	AA,AG,GG		13.0345,9.8172,12.0129	possibly-damaging	2574/4168	73716810	1449,10613	1915	4116	6031	SO:0001583	missense	7840	exon10			TATGTAGTCACAT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7721G>A	2.37:g.73716810G>A	ENSP00000264448:p.Ser2574Asn	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	303	0.13873626373626374	45	0.09146341463414634	27	0.07458563535911603	131	0.229020979020979	100	0.13192612137203166	G	17.10	3.303631	0.60305	0.098172	0.130345	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08896	3.04;3.04	4.45	4.45	0.53987	.	0.481828	0.19752	N	0.106868	T	0.00012	0.0000	L	0.46157	1.445	0.09310	P	1.0	D;D;D	0.67145	0.996;0.989;0.989	P;P;P	0.56563	0.801;0.801;0.801	T	0.38520	-0.9657	9	0.42905	T	0.14	.	12.9143	0.58197	0.0:0.0:1.0:0.0	rs3820700;rs17266475;rs59027531;rs3820700	2574;2532;2574	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	2532;2574	ENSP00000386627:S2532N;ENSP00000264448:S2574N	ENSP00000264448:S2574N	S	+	2	0	ALMS1	73570318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.331000	0.59273	2.748000	0.94277	0.650000	0.86243	AGT	G|0.855;A|0.145	0.145	strong		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73716810	G	A	73716810	3	1	22	1	0	0	0	0	1	0	0	0	535	1029	36	2	7759	2	ALMS1	2	73716810	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40495	73716810	169482563	1405	6513										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73717103	73717103	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtcttcgaatgccattcGatgaaaagatggacccttgg	11	8	1	2	rs2017116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73717103G>C	ENST00000264448.6	+	10	8125	c.8014G>C	c.(8014-8016)Gat>Cat	p.D2672H	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2630H|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2672			D -> H (in dbSNP:rs2017116). {ECO:0000269|PubMed:15489334}.		endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATGCCATTCGATGAAAAGAT	0.393													C|||	681	0.135982	0.1135	0.0663	5008	,	,		20771	0.2034		0.1262	False		,,,				2504	0.1564				p.D2672H		Atlas-SNP	.											.	ALMS1	384	.	0			c.G8014C						PASS	.	C	HIS/ASP	451,3261		27,397,1432	144	134	137		8014	2.6	0	2	dbSNP_92	137	1081,7089		67,947,3071	yes	missense	ALMS1	NM_015120.4	81	94,1344,4503	CC,CG,GG		13.2313,12.1498,12.8935	benign	2672/4168	73717103	1532,10350	1856	4085	5941	SO:0001583	missense	7840	exon10			CCATTCGATGAAA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8014G>C	2.37:g.73717103G>C	ENSP00000264448:p.Asp2672His	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	129	72	0.55814	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	320	0.14652014652014653	56	0.11382113821138211	30	0.08287292817679558	134	0.23426573426573427	100	0.13192612137203166	C	0.011	-1.711987	0.00712	0.121498	0.132313	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05580	3.42;3.42	4.45	2.64	0.31445	.	0.412634	0.21037	N	0.081226	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45086	-0.9285	9	0.02654	T	1	.	6.5992	0.22691	0.0:0.5521:0.3527:0.0952	rs2017116;rs3738849;rs17349615;rs17846124;rs17848862;rs17859129;rs17859507;rs52812860;rs2017116	2672;2630;2672	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2630;2672	ENSP00000386627:D2630H;ENSP00000264448:D2672H	ENSP00000264448:D2672H	D	+	1	0	ALMS1	73570611	0.002000	0.14202	0.049000	0.19019	0.916000	0.54674	0.444000	0.21661	0.383000	0.24910	-0.127000	0.14921	GAT	G|0.852;C|0.148	0.148	strong		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73717103	G	C	73717103	3	2	22	1	0	0	0	0	1	0	0	0	535	1058	37	4	8052	4	ALMS1	2	73717103	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	293	73717103	169482270	1406	6514										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73786188	73786188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactaaagccattacacagAaagaggagatccataggaag	9	8	0	3	rs34071195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73786188A>G	ENST00000264448.6	+	15	10411	c.10300A>G	c.(10300-10302)Aaa>Gaa	p.K3434E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K3392E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3434			K -> E (in dbSNP:rs34071195).		endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTACACAGAAAGAGGAGAT	0.468													A|||	92	0.0183706	0.0658	0.0072	5008	,	,		16247	0.0		0.0	False		,,,				2504	0.0				p.K3434E		Atlas-SNP	.											.	ALMS1	384	.	0			c.A10300G						PASS	.	A	GLU/LYS	195,3577		8,179,1699	101	101	101		10300	3.8	1	2	dbSNP_126	101	2,8234		0,2,4116	yes	missense	ALMS1	NM_015120.4	56	8,181,5815	GG,GA,AA		0.0243,5.1697,1.6406	probably-damaging	3434/4168	73786188	197,11811	1886	4118	6004	SO:0001583	missense	7840	exon15			ACACAGAAAGAGG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10300A>G	2.37:g.73786188A>G	ENSP00000264448:p.Lys3434Glu	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	29	0.013278388278388278	26	0.052845528455284556	3	0.008287292817679558	0	0.0	0	0.0	A	18.42	3.620149	0.66787	0.051697	2.43E-4	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	3.75	3.75	0.43078	.	0.162704	0.29239	N	0.012727	T	0.02848	0.0085	L	0.48642	1.525	0.80722	D	1	P;D;P	0.64830	0.886;0.994;0.932	P;D;P	0.72982	0.55;0.979;0.546	T	0.00158	-1.1976	10	0.72032	D	0.01	.	9.1435	0.36919	1.0:0.0:0.0:0.0	rs34071195	3434;3392;3434	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	E	3392;3434	ENSP00000386627:K3392E;ENSP00000264448:K3434E	ENSP00000264448:K3434E	K	+	1	0	ALMS1	73639696	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	2.265000	0.43311	1.946000	0.56461	0.377000	0.23210	AAA	A|0.991;G|0.009	0.009	strong		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73786188	A	G	73786188	3	3	22	1	0	0	0	0	1	0	0	0	535	247	9	2	10358	2	ALMS1	2	73786188	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69085	73786188	169413185	1407	6515										
NAT8	9027	hgsc.bcm.edu	37	chr2	73868446	73868446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaagcaggagccacgctCactcaggtaggatttggtaa	12	10	2	1	rs13424561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:73868446C>T	ENST00000272425.3	-	2	459	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GAGCCACGCTCACTCAGGTAG	0.537													.|||	179	0.0357428	0.1286	0.013	5008	,	,		22094	0.0		0.0	False		,,,				2504	0.0				p.E104K		Atlas-SNP	.											.	NAT8	26	.	0			c.G310A						PASS	.	C	LYS/GLU	505,3901	235.2+/-247.8	38,429,1736	118	112	114		310	-0.2	0	2	dbSNP_121	114	3,8597	3.7+/-12.6	0,3,4297	yes	missense	NAT8	NM_003960.3	56	38,432,6033	TT,TC,CC		0.0349,11.4616,3.9059	possibly-damaging	104/228	73868446	508,12498	2203	4300	6503	SO:0001583	missense	9027	exon2			CACGCTCACTCAG	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.310G>A	2.37:g.73868446C>T	ENSP00000272425:p.Glu104Lys	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	164	83	0.506098	NM_003960		Missense_Mutation	SNP	ENST00000272425.3	37	CCDS1926.1	75	0.034340659340659344	71	0.1443089430894309	4	0.011049723756906077	0	0.0	0	0.0	C	2.671	-0.277447	0.05679	0.114616	3.49E-4	ENSG00000144035	ENST00000272425	T	0.29397	1.57	3.86	-0.22	0.13130	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	1.343440	0.05236	N	0.511242	T	0.00144	0.0004	L	0.31752	0.955	0.80722	P	0.0	B	0.24426	0.103	B	0.17722	0.019	T	0.20739	-1.0266	9	0.08179	T	0.78	-1.1728	7.9371	0.29935	0.0:0.5069:0.0:0.4931	rs13424561;rs13424561	104	Q9UHE5	NAT8_HUMAN	K	104	ENSP00000272425:E104K	ENSP00000272425:E104K	E	-	1	0	NAT8	73721954	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.648000	0.05391	-0.174000	0.10743	-0.151000	0.13558	GAG	C|0.956;T|0.044	0.044	strong		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		T	73868446	C	T	73868446	3	4	22	1	0	0	0	0	1	0	0	0	10179	835	29	2	377	2	NAT8	2	73868446	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	82258	73868446	169330927	1408	6516										
STAMBP	10617	hgsc.bcm.edu	37	chr2	74057995	74057995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtcctgatgtctgaccaTggagatgtgagcctcccgcc	12	12	1	4	rs919629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74057995T>C	ENST00000394070.2	+	2	515	c.12T>C	c.(10-12)caT>caC	p.H4H	STAMBP_ENST00000394073.1_Silent_p.H4H|STAMBP_ENST00000536064.1_Silent_p.H4H|STAMBP_ENST00000339566.3_Silent_p.H4H|STAMBP_ENST00000409707.1_Silent_p.H4H	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	4	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTGACCATGGAGATGTGA	0.532													T|||	625	0.1248	0.3116	0.1369	5008	,	,		20104	0.0734		0.0179	False		,,,				2504	0.0266				p.H4H		Atlas-SNP	.											.	STAMBP	37	.	0			c.T12C						PASS	.	T	,,	1163,3243	406.0+/-333.7	148,867,1188	45	46	46		12,12,12	3.7	1	2	dbSNP_86	46	158,8442	74.8+/-137.4	0,158,4142	no	coding-synonymous,coding-synonymous,coding-synonymous	STAMBP	NM_006463.4,NM_201647.2,NM_213622.2	,,	148,1025,5330	CC,CT,TT		1.8372,26.3958,10.1569	,,	4/425,4/425,4/425	74057995	1321,11685	2203	4300	6503	SO:0001819	synonymous_variant	10617	exon3			TGACCATGGAGAT	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.12T>C	2.37:g.74057995T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_006463	B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	CCDS1929.1																																																																																			T|0.896;C|0.104	0.104	strong		0.532	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		C	74057995	T	C	74057995	2	2	22	1	0	0	0	0	0	0	0	1	15249	1461	51	2		2	STAMBP	2	74057995	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	189549	74057995	169141378	1409	6517										
ACTG2	72	hgsc.bcm.edu	37	chr2	74140616	74140616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctctctgtccacaggcatCgtcctggattcaggtgatgg	11	12	2	1	rs34286914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74140616C>T	ENST00000409624.1	+	7	1099	c.456C>T	c.(454-456)atC>atT	p.I152I	ACTG2_ENST00000409731.3_Silent_p.I109I|ACTG2_ENST00000345517.3_Silent_p.I152I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	152					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CCACAGGCATCGTCCTGGATT	0.507													C|||	124	0.0247604	0.0908	0.0043	5008	,	,		20140	0.0		0.001	False		,,,				2504	0.0				p.I152I		Atlas-SNP	.											.	ACTG2	37	.	0			c.C456T						PASS	.	C	,	388,4018	193.6+/-218.7	20,348,1835	106	98	101		327,456	-9.2	0.3	2	dbSNP_126	101	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	ACTG2	NM_001199893.1,NM_001615.3	,	20,350,6133	TT,TC,CC		0.0233,8.8062,2.9986	,	109/334,152/377	74140616	390,12616	2203	4300	6503	SO:0001819	synonymous_variant	72	exon6			AGGCATCGTCCTG		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.456C>T	2.37:g.74140616C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	137	66	0.481752	NM_001615	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Silent	SNP	ENST00000409624.1	37	CCDS1930.1																																																																																			C|0.976;T|0.024	0.024	strong		0.507	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		T	74140616	C	T	74140616	2	4	22	1	0	0	0	0	0	0	0	1	197	874	31	1		1	ACTG2	2	74140616	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	82621	74140616	169058757	1410	6518										
DGUOK	1716	hgsc.bcm.edu	37	chr2	74174013	74174013	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccagtacagatctttgaGaggtctgtgtacagtgacag	12	7	2	3	rs1804599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74174013G>A	ENST00000264093.4	+	3	508	c.423G>A	c.(421-423)gaG>gaA	p.E141E	DGUOK_ENST00000348222.1_Silent_p.E141E|DGUOK_ENST00000356837.6_Silent_p.E119E|DGUOK_ENST00000462685.1_3'UTR|DGUOK-AS1_ENST00000453103.1_RNA	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	141					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	AGATCTTTGAGAGGTCTGTGT	0.507													G|||	89	0.0177716	0.0613	0.0115	5008	,	,		17020	0.0		0.0	False		,,,				2504	0.0				p.E141E		Atlas-SNP	.											.	DGUOK	16	.	0			c.G423A						PASS	.	G	,	197,4209	124.1+/-161.4	6,185,2012	49	43	45		423,423	4.8	1	2	dbSNP_89	45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	DGUOK	NM_080916.1,NM_080918.1	,	6,187,6310	AA,AG,GG		0.0233,4.4712,1.5301	,	141/278,141/190	74174013	199,12807	2203	4300	6503	SO:0001819	synonymous_variant	1716	exon3			CTTTGAGAGGTCT	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.423G>A	2.37:g.74174013G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_080918	P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	CCDS1931.1																																																																																			G|0.986;A|0.014	0.014	strong		0.507	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			A	74174013	G	A	74174013	2	1	22	1	0	0	0	0	0	0	0	1	4475	933	33	2		2	DGUOK	2	74174013	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33397	74174013	169025360	1411	6519										
TET3	200424	hgsc.bcm.edu	37	chr2	74274812	74274812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacaccagctggaggtcccGtgggaacggagaaagctgcc	14	12	0	1	rs72816199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74274812G>A	ENST00000409262.3	+	1	1363	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	455					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGAGGTCCCGTGGGAACGGA	0.612													G|||	80	0.0159744	0.0582	0.0	5008	,	,		16252	0.0		0.002	False		,,,				2504	0.001				p.V455M		Atlas-SNP	.											.	TET3	101	.	0			c.G1363A						PASS	.	G	MET/VAL	169,3733		4,161,1786	29	36	33		1363	-2.6	0	2	dbSNP_130	33	22,8214		0,22,4096	yes	missense	TET3	NM_144993.1	21	4,183,5882	AA,AG,GG		0.2671,4.3311,1.5736	benign	455/1661	74274812	191,11947	1951	4118	6069	SO:0001583	missense	200424	exon1			GGTCCCGTGGGAA		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1363G>A	2.37:g.74274812G>A	ENSP00000386869:p.Val455Met	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	91	39	0.428571	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	35	0.016025641025641024	33	0.06707317073170732	0	0.0	0	0.0	2	0.002638522427440633	G	3.290	-0.145224	0.06627	0.043311	0.002671	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27557	1.66;2.47	5.02	-2.61	0.06171	.	.	.	.	.	T	0.00845	0.0028	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.20806	-1.0264	9	0.45353	T	0.12	.	0.2235	0.00171	0.2976:0.2306:0.2467:0.2251	.	455	O43151	TET3_HUMAN	M	497;455;455	ENSP00000307803:V497M;ENSP00000386869:V455M	ENSP00000233310:V455M	V	+	1	0	TET3	74128320	0.000000	0.05858	0.001000	0.08648	0.417000	0.31264	-1.268000	0.02836	-0.836000	0.04229	0.591000	0.81541	GTG	G|0.986;A|0.014	0.014	strong		0.612	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			A	74274812	G	A	74274812	3	1	22	1	0	0	0	0	1	0	0	0	15768	1145	40	1	1365	1	TET3	2	74274812	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100799	74274812	168924561	1412	6520										
TET3	200424	hgsc.bcm.edu	37	chr2	74275174	74275174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgacaagctggaagagctCatccggcagtttgaggctga	14	8	1	4	rs73951129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74275174C>T	ENST00000409262.3	+	1	1725	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	575					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGAAGAGCTCATCCGGCAGT	0.602													C|||	79	0.0157748	0.0582	0.0	5008	,	,		17465	0.001		0.001	False		,,,				2504	0.0				p.L575L		Atlas-SNP	.											.	TET3	101	.	0			c.C1725T						PASS	.	C		157,3687		4,149,1769	41	45	43		1725	4.5	1	2	dbSNP_130	43	1,8255		0,1,4127	no	coding-synonymous	TET3	NM_144993.1		4,150,5896	TT,TC,CC		0.0121,4.0843,1.3058		575/1661	74275174	158,11942	1922	4128	6050	SO:0001819	synonymous_variant	200424	exon1			AGAGCTCATCCGG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1725C>T	2.37:g.74275174C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	121	65	0.53719	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																			C|0.984;T|0.016	0.016	strong		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74275174	C	T	74275174	2	4	22	1	0	0	0	0	0	0	0	1	15768	813	29	2		2	TET3	2	74275174	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	362	74275174	168924199	1413	6521										
SLC4A5	57835	hgsc.bcm.edu	37	chr2	74460685	74460685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagcctcggtcaggccgCgttggctgagtgggagcaaa	15	11	1	1	rs3796109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74460685C>T	ENST00000377634.4	-	23	2838	c.2439G>A	c.(2437-2439)acG>acA	p.T813T	SLC4A5_ENST00000423644.1_Silent_p.T813T|SLC4A5_ENST00000346834.4_Silent_p.T813T|SLC4A5_ENST00000357822.5_Silent_p.T813T|SLC4A5_ENST00000359484.4_Silent_p.T711T|SLC4A5_ENST00000377632.1_Silent_p.T813T|SLC4A5_ENST00000358683.4_Silent_p.T711T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.T813T|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTCAGGCCGCGTTGGCTGAG	0.627													C|||	543	0.108427	0.1589	0.2262	5008	,	,		18172	0.1071		0.0268	False		,,,				2504	0.0419				p.T813T		Atlas-SNP	.											.	SLC4A5	215	.	0			c.G2439A						PASS	.	C	,	592,3814	254.0+/-259.7	40,512,1651	26	28	27		2439,2439	-8.4	0.8	2	dbSNP_107	27	261,8339	100.1+/-161.6	4,253,4043	no	coding-synonymous,coding-synonymous	SLC4A5	NM_021196.3,NM_133478.2	,	44,765,5694	TT,TC,CC		3.0349,13.4362,6.5585	,	813/1138,813/1122	74460685	853,12153	2203	4300	6503	SO:0001819	synonymous_variant	57835	exon18			AGGCCGCGTTGGC	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2439G>A	2.37:g.74460685C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_021196		Silent	SNP	ENST00000377634.4	37	CCDS1936.1																																																																																			C|0.917;T|0.083	0.083	strong		0.627	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74460685	C	T	74460685	2	4	22	1	0	0	0	0	0	0	0	1	14657	755	27	1		1	SLC4A5	2	74460685	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	185511	74460685	168738688	1414	6522										
DCTN1	1639	hgsc.bcm.edu	37	chr2	74593482	74593482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagacactcataggggctGctggagggggtcccatagat	15	10	1	2	rs140986485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74593482G>A	ENST00000361874.3	-	23	2966	c.2649C>T	c.(2647-2649)agC>agT	p.S883S	DCTN1_ENST00000409240.1_Silent_p.S846S|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Silent_p.S863S|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Silent_p.S749S|DCTN1_ENST00000409868.1_Silent_p.S866S|DCTN1_ENST00000394003.3_Silent_p.S876S|DCTN1_ENST00000407639.2_Silent_p.S749S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	883					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CATAGGGGCTGCTGGAGGGGG	0.582													G|||	13	0.00259585	0.0098	0.0	5008	,	,		18862	0.0		0.0	False		,,,				2504	0.0				p.S883S		Atlas-SNP	.											.	DCTN1	110	.	0			c.C2649T						PASS	.	G	,,,,,	26,4380	32.6+/-62.9	0,26,2177	50	54	53		2589,2247,2538,2628,2649,2247	5.4	1	2	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	,,,,,	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	,,,,,	863/1254,749/1140,846/1237,876/1272,883/1279,749/1145	74593482	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	1639	exon23			GGGGCTGCTGGAG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2649C>T	2.37:g.74593482G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	138	64	0.463768	NM_004082	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	CCDS1939.1																																																																																			G|0.997;A|0.003	0.003	strong		0.582	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		A	74593482	G	A	74593482	2	1	22	1	0	0	0	0	0	0	0	1	4306	1310	46	2		2	DCTN1	2	74593482	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132797	74593482	168605891	1415	6523										
DCTN1	1639	hgsc.bcm.edu	37	chr2	74596321	74596321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagatgcttcctgctggttTgtcagttcccgattcacatc	8	12	2	1	rs13429423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74596321T>C	ENST00000361874.3	-	15	1922	c.1605A>G	c.(1603-1605)acA>acG	p.T535T	DCTN1_ENST00000409240.1_Silent_p.T498T|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409567.3_Silent_p.T515T|DCTN1_ENST00000409438.1_Silent_p.T401T|DCTN1_ENST00000409868.1_Silent_p.T518T|DCTN1_ENST00000394003.3_Silent_p.T528T|DCTN1_ENST00000407639.2_Silent_p.T401T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	535					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTGCTGGTTTGTCAGTTCCC	0.532													T|||	222	0.0443291	0.1611	0.013	5008	,	,		20259	0.0		0.0	False		,,,				2504	0.0				p.T535T		Atlas-SNP	.											.	DCTN1	110	.	0			c.A1605G						PASS	.	T	,,,,,	590,3816	259.5+/-263.1	37,516,1650	137	126	130		1545,1203,1494,1584,1605,1203	-3.8	1	2	dbSNP_121	130	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	,,,,,	37,522,5944	CC,CT,TT		0.0698,13.3908,4.5825	,,,,,	515/1254,401/1140,498/1237,528/1272,535/1279,401/1145	74596321	596,12410	2203	4300	6503	SO:0001819	synonymous_variant	1639	exon15			CTGGTTTGTCAGT		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1605A>G	2.37:g.74596321T>C		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	305	151	0.495082	NM_004082	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	CCDS1939.1																																																																																			T|0.956;C|0.044	0.044	strong		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74596321	T	C	74596321	2	2	22	1	0	0	0	0	0	0	0	1	4306	1799	63	2		2	DCTN1	2	74596321	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2839	74596321	168603052	1416	6524										
DCTN1	1639	hgsc.bcm.edu	37	chr2	74597937	74597937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagcgttcctttgcctccaGcgcctccttggcttcctgag	9	15	0	1	rs13420401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74597937G>T	ENST00000361874.3	-	10	1176	c.859C>A	c.(859-861)Ctg>Atg	p.L287M	DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.L280M|DCTN1_ENST00000409240.1_Missense_Mutation_p.L250M|DCTN1_ENST00000409438.1_Missense_Mutation_p.L153M|DCTN1_ENST00000409567.3_Missense_Mutation_p.L267M|DCTN1_ENST00000407639.2_Missense_Mutation_p.L153M|DCTN1_ENST00000409868.1_Missense_Mutation_p.L270M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	287			L -> M (in dbSNP:rs13420401).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTTGCCTCCAGCGCCTCCTTG	0.567													G|||	229	0.0457268	0.1649	0.0159	5008	,	,		21252	0.0		0.0	False		,,,				2504	0.0				p.L287M		Atlas-SNP	.											.	DCTN1	110	.	0			c.C859A						PASS	.	G	MET/LEU,MET/LEU,MET/LEU,MET/LEU,MET/LEU,MET/LEU	604,3802	264.1+/-265.8	38,528,1637	99	96	97		799,457,748,838,859,457	3.5	0.7	2	dbSNP_121	97	6,8594	3.7+/-12.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	15,15,15,15,15,15	38,534,5931	TT,TG,GG		0.0698,13.7086,4.6901	benign,benign,benign,benign,benign,benign	267/1254,153/1140,250/1237,280/1272,287/1279,153/1145	74597937	610,12396	2203	4300	6503	SO:0001583	missense	1639	exon10			CCTCCAGCGCCTC		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.859C>A	2.37:g.74597937G>T	ENSP00000354791:p.Leu287Met	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	138	73	0.528986	NM_004082	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	85	0.03891941391941392	79	0.16056910569105692	6	0.016574585635359115	0	0.0	0	0.0	G	10.70	1.423353	0.25639	0.137086	6.98E-4	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.79845	-0.86;-1.08;-0.79;-0.79;-1.31;-1.04;-1.09	5.66	3.48	0.39840	.	0.000000	0.33792	N	0.004541	T	0.00784	0.0026	M	0.75264	2.295	0.30403	P	0.7798160000000001	B;B;B;B;P;B	0.35575	0.204;0.245;0.034;0.129;0.51;0.057	B;B;B;B;B;B	0.32624	0.049;0.049;0.007;0.043;0.149;0.015	T	0.37798	-0.9690	9	0.33940	T	0.23	-5.9903	8.5044	0.33179	0.0832:0.0:0.6425:0.2743	rs13420401;rs58339203	267;250;287;280;153;153	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	M	287;280;270;153;153;250;270;267	ENSP00000354791:L287M;ENSP00000377571:L280M;ENSP00000384844:L153M;ENSP00000387270:L153M;ENSP00000386406:L250M;ENSP00000387327:L270M;ENSP00000386843:L267M	ENSP00000354791:L287M	L	-	1	2	DCTN1	74451445	0.680000	0.27605	0.708000	0.30435	0.947000	0.59692	0.896000	0.28377	1.345000	0.45676	0.655000	0.94253	CTG	G|0.954;T|0.046	0.046	strong		0.567	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74597937	G	T	74597937	3	4	22	1	0	0	0	0	1	0	0	0	4306	962	34	4	3069	4	DCTN1	2	74597937	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1616	74597937	168601436	1417	6525										
WBP1	23559	hgsc.bcm.edu	37	chr2	74687550	74687550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaccagagtgcccccccTcatcaggagggtgagcccgg	12	17	2	2	rs8469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74687550T>C	ENST00000233615.2	+	4	826	c.552T>C	c.(550-552)ccT>ccC	p.P184P	WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Silent_p.P218P|WBP1_ENST00000409737.1_Silent_p.P181P	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612													T|||	2625	0.524161	0.8275	0.3156	5008	,	,		15618	0.8214		0.1581	False		,,,				2504	0.3323				p.P184P		Atlas-SNP	.											.	WBP1	35	.	0			c.T552C						PASS	.	T		3085,1321		1140,805,258	52	70	64		552	2	1	2	dbSNP_52	64	1125,7473		88,949,3262	no	coding-synonymous	WBP1	NM_012477.3		1228,1754,3520	CC,CT,TT		13.0844,29.9818,32.3747		184/270	74687550	4210,8794	2203	4299	6502	SO:0001819	synonymous_variant	23559	exon4			CCCCCCTCATCAG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.552T>C	2.37:g.74687550T>C		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	302	302	1	NM_012477	B2RE02|O95637	Silent	SNP	ENST00000233615.2	37	CCDS1943.1																																																																																			T|0.633;C|0.367	0.367	strong		0.612	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		C	74687550	T	C	74687550	2	2	22	1	0	0	0	0	0	0	0	1	17254	1538	54	3		3	WBP1	2	74687550	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	89613	74687550	168511823	1418	6526										
MOGS	7841	hgsc.bcm.edu	37	chr2	74688884	74688884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagttgaggttggggccGacccaccacccgaacgagcc	13	15	0	1	rs13405869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74688884G>A	ENST00000233616.4	-	4	2194	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	MOGS_ENST00000452063.2_Missense_Mutation_p.R572W|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	678					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGTTGGGGCCGACCCACCACC	0.597													G|||	133	0.0265575	0.0961	0.0086	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0				p.R678W		Atlas-SNP	.											.	MOGS	58	.	0			c.C2032T						PASS	.	G	TRP/ARG,TRP/ARG	309,3659		17,275,1692	64	76	72		1714,2032	-0.3	0.9	2	dbSNP_121	72	3,8293		0,3,4145	yes	missense,missense	MOGS	NM_001146158.1,NM_006302.2	101,101	17,278,5837	AA,AG,GG		0.0362,7.7873,2.544	probably-damaging,probably-damaging	572/732,678/838	74688884	312,11952	1984	4148	6132	SO:0001583	missense	7841	exon4			GGGGCCGACCCAC	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2032C>T	2.37:g.74688884G>A	ENSP00000233616:p.Arg678Trp	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	118	47	0.398305	NM_006302	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	63	0.028846153846153848	59	0.11991869918699187	4	0.011049723756906077	0	0.0	0	0.0	G	8.207	0.799569	0.16397	0.077873	3.62E-4	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.39406	1.08;1.08	5.01	-0.259	0.12971	Six-hairpin glycosidase-like (1);	0.118143	0.52532	N	0.000072	T	0.01124	0.0037	M	0.61703	1.905	0.09310	P	0.999999999995561	D	0.89917	1.0	D	0.81914	0.995	T	0.21621	-1.0240	9	0.52906	T	0.07	-11.998	8.8519	0.35206	0.0776:0.0:0.271:0.6514	rs13405869	678	Q13724	MOGS_HUMAN	W	678;572	ENSP00000233616:R678W;ENSP00000388201:R572W	ENSP00000233616:R678W	R	-	1	2	MOGS	74542392	0.955000	0.32602	0.865000	0.33974	0.148000	0.21650	0.271000	0.18626	-0.231000	0.09825	-2.140000	0.00339	CGG	G|0.980;A|0.020	0.020	strong		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		A	74688884	G	A	74688884	3	1	22	1	0	0	0	0	1	0	0	0	9697	1057	37	1	485	1	MOGS	2	74688884	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1334	74688884	168510489	1419	6527										
MOGS	7841	hgsc.bcm.edu	37	chr2	74690039	74690039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgaggtagcgttcaggggGggcccctgggggccgatgct	20	11	1	0	rs2268416	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74690039G>A	ENST00000233616.4	-	4	1039	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	MOGS_ENST00000452063.2_Missense_Mutation_p.P187S|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	293			P -> S (in dbSNP:rs2268416). {ECO:0000269|PubMed:7635146}.		cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CGTTCAGGGGGGGCCCCTGGG	0.592													A|||	2698	0.538738	0.8714	0.3242	5008	,	,		18027	0.8214		0.159	False		,,,				2504	0.3405				p.P293S		Atlas-SNP	.											.	MOGS	58	.	0			c.C877T						PASS	.	A	SER/PRO,SER/PRO	2873,1041		1062,749,146	112	120	118		559,877	0.9	0.1	2	dbSNP_100	118	1202,7096		95,1012,3042	yes	missense,missense	MOGS	NM_001146158.1,NM_006302.2	74,74	1157,1761,3188	AA,AG,GG		14.4854,26.5968,33.3688	benign,benign	187/732,293/838	74690039	4075,8137	1957	4149	6106	SO:0001583	missense	7841	exon4			CAGGGGGGGCCCC	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.877C>T	2.37:g.74690039G>A	ENSP00000233616:p.Pro293Ser	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_006302	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	1100	0.5036630036630036	419	0.8516260162601627	97	0.26795580110497236	469	0.8199300699300699	115	0.1517150395778364	A	0.007	-1.939376	0.00484	0.734032	0.144854	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.35973	1.28;1.28;1.28	4.85	0.945	0.19543	.	0.491884	0.22259	N	0.062440	T	0.00012	0.0000	N	0.01168	-0.975	0.09310	P	0.99999454037	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.05721	T	0.95	-3.9946	1.0778	0.01636	0.5087:0.1551:0.1865:0.1497	rs2268416;rs58722329	293	Q13724	MOGS_HUMAN	S	293;187;187	ENSP00000233616:P293S;ENSP00000388201:P187S;ENSP00000410992:P187S	ENSP00000233616:P293S	P	-	1	0	MOGS	74543547	0.263000	0.24083	0.094000	0.20943	0.518000	0.34316	0.754000	0.26390	-0.235000	0.09767	-0.254000	0.11334	CCC	G|0.582;A|0.418	0.418	strong		0.592	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		A	74690039	G	A	74690039	3	1	22	1	0	0	0	0	1	0	0	0	9697	1232	43	2	1640	2	MOGS	2	74690039	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1155	74690039	168509334	1420	6528										
MOGS	7841	hgsc.bcm.edu	37	chr2	74690378	74690378	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaagtgtaaagcggaagtCaccaagttcactggtgtgcc	11	9	2	0	rs1063588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74690378C>T	ENST00000233616.4	-	3	877	c.715G>A	c.(715-717)Gac>Aac	p.D239N	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D133N|MOGS_ENST00000409065.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	239			D -> N (in dbSNP:rs1063588). {ECO:0000269|PubMed:7635146}.		cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAGCGGAAGTCACCAAGTTCA	0.527													C|||	2598	0.51877	0.8086	0.3127	5008	,	,		20904	0.8214		0.1581	False		,,,				2504	0.3323				p.D239N		Atlas-SNP	.											.	MOGS	58	.	0			c.G715A						PASS	.	C	ASN/ASP,ASN/ASP	2661,1287		899,863,212	116	119	118		397,715	4.8	1	2	dbSNP_86	118	1138,7210		82,974,3118	yes	missense,missense	MOGS	NM_001146158.1,NM_006302.2	23,23	981,1837,3330	TT,TC,CC		13.632,32.5988,30.8962	benign,benign	133/732,239/838	74690378	3799,8497	1974	4174	6148	SO:0001583	missense	7841	exon3			GGAAGTCACCAAG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.715G>A	2.37:g.74690378C>T	ENSP00000233616:p.Asp239Asn	Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	248	248	1	NM_006302	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	1064	0.48717948717948717	387	0.7865853658536586	94	0.2596685082872928	469	0.8199300699300699	114	0.1503957783641161	C	12.59	1.983034	0.34942	0.674012	0.13632	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666;ENST00000414701	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.85	4.85	0.62838	.	0.243944	0.41194	D	0.000925	T	0.00012	0.0000	N	0.17800	0.525	0.09310	P	1.0	P	0.36616	0.561	B	0.36666	0.23	T	0.07558	-1.0766	9	0.21014	T	0.42	-20.9003	13.3472	0.60580	0.0:1.0:0.0:0.0	rs1063588;rs3204621;rs58978224;rs1063588	239	Q13724	MOGS_HUMAN	N	239;133;133;120	ENSP00000233616:D239N;ENSP00000388201:D133N;ENSP00000410992:D133N;ENSP00000396298:D120N	ENSP00000233616:D239N	D	-	1	0	MOGS	74543886	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	0.994000	0.29693	2.504000	0.84457	0.655000	0.94253	GAC	C|0.531;T|0.469	0.469	strong		0.527	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		T	74690378	C	T	74690378	3	4	22	1	0	0	0	0	1	0	0	0	9697	826	29	2	1806	2	MOGS	2	74690378	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	339	74690378	168508995	1421	6529										
MRPL53	116540	hgsc.bcm.edu	37	chr2	74699778	74699778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaccaagccgagccaaggCagctgccatggtgacctccg	12	15	0	2	rs1047911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74699778C>A	ENST00000258105.7	-	1	671	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	MRPL53_ENST00000409710.1_Missense_Mutation_p.A4S	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	4			A -> S (in dbSNP:rs1047911).			mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CGAGCCAAGGCAGCTGCCATG	0.602													C|||	2588	0.516773	0.8064	0.3098	5008	,	,		20314	0.8214		0.1581	False		,,,				2504	0.3272				p.A4S		Atlas-SNP	.											.	MRPL53	13	.	0			c.G10T						PASS	.	C	SER/ALA	3112,1294	679.3+/-403.7	1106,900,197	55	52	53		10	2.3	0.2	2	dbSNP_86	53	1187,7411	228.6+/-263.6	88,1011,3200	yes	missense	MRPL53	NM_053050.4	99	1194,1911,3397	AA,AC,CC		13.8055,29.369,33.0591	benign	4/113	74699778	4299,8705	2203	4299	6502	SO:0001583	missense	116540	exon1			CCAAGGCAGCTGC	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"Mitochondrial ribosomal proteins / large subunits"	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.10G>T	2.37:g.74699778C>A	ENSP00000258105:p.Ala4Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_053050		Missense_Mutation	SNP	ENST00000258105.7	37	CCDS1944.1	1092	0.5	396	0.8048780487804879	99	0.27348066298342544	474	0.8286713286713286	123	0.16226912928759896	C	5.013	0.188132	0.09547	0.70631	0.138055	ENSG00000204822	ENST00000258105;ENST00000409710	T;T	0.57595	0.76;0.39	5.09	2.26	0.28386	.	0.532852	0.21296	N	0.076882	T	0.00012	0.0000	N	0.14661	0.345	0.52099	P	5.900000000003125E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	9	0.07482	T	0.82	-14.3176	3.6041	0.08035	0.1827:0.5686:0.1584:0.0903	rs1047911;rs3210341;rs11554618;rs56805532;rs1047911	4	Q96EL3	RM53_HUMAN	S	4	ENSP00000258105:A4S;ENSP00000386920:A4S	ENSP00000258105:A4S	A	-	1	0	MRPL53	74553286	0.793000	0.28825	0.169000	0.22859	0.002000	0.02628	0.255000	0.18333	0.280000	0.22209	-0.137000	0.14449	GCC	C|0.587;A|0.413	0.413	strong		0.602	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		A	74699778	C	A	74699778	3	1	22	1	0	0	0	0	1	0	0	0	9817	710	25	4	340	4	MRPL53	2	74699778	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9400	74699778	168499595	1422	6530										
CCDC142	84865	hgsc.bcm.edu	37	chr2	74708453	74708453	+	Silent	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtgccagaggatgtgggAaggctgctctgacccccaag					rs115125840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74708453A>T	ENST00000393965.3	-	3	1551	c.1155T>A	c.(1153-1155)ctT>ctA	p.L385L	CCDC142_ENST00000290418.4_Silent_p.L385L|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	385										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AGGATGTGGGAAGGCTGCTCT	0.557													A|||	19	0.00379393	0.0144	0.0	5008	,	,		19536	0.0		0.0	False		,,,				2504	0.0				p.L385L		Atlas-SNP	.											.	CCDC142	40	.	0			c.T1155A						PASS	.	A		32,4374	37.6+/-69.7	0,32,2171	111	126	121		1155	-2.6	0	2	dbSNP_132	121	0,8600		0,0,4300	no	coding-synonymous	CCDC142	NM_032779.3		0,32,6471	TT,TA,AA		0.0,0.7263,0.246		385/744	74708453	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	84865	exon3			TGTGGGAAGGCTG	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1155T>A	2.37:g.74708453A>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	144	56	0.388889	NM_032779	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37																																																																																				A|0.997;T|0.003	0.003	strong		0.557	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		T	74708453	A	T	74708453	2	4	22	1	0	0	0	0	0	0	0	1	2776	233	9	5		5	CCDC142	2	74708453	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8675	74708453	168490920	1423	6531	135	2								
CCDC142	84865	hgsc.bcm.edu	37	chr2	74708454	74708454	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgccagaggatgtgggaAggctgctctgacccccaaga					rs142978072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74708454A>C	ENST00000393965.3	-	3	1550	c.1154T>G	c.(1153-1155)cTt>cGt	p.L385R	CCDC142_ENST00000290418.4_Missense_Mutation_p.L385R|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	385										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGATGTGGGAAGGCTGCTCTG	0.552													A|||	19	0.00379393	0.0144	0.0	5008	,	,		19474	0.0		0.0	False		,,,				2504	0.0				p.L385R		Atlas-SNP	.											.	CCDC142	40	.	0			c.T1154G						PASS	.	A	ARG/LEU	32,4374	37.6+/-69.7	0,32,2171	111	127	121		1154	-2	0.1	2	dbSNP_134	121	0,8600		0,0,4300	yes	missense	CCDC142	NM_032779.3	102	0,32,6471	CC,CA,AA		0.0,0.7263,0.246	possibly-damaging	385/744	74708454	32,12974	2203	4300	6503	SO:0001583	missense	84865	exon3			GTGGGAAGGCTGC	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1154T>G	2.37:g.74708454A>C	ENSP00000377537:p.Leu385Arg	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	145	56	0.386207	NM_032779	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	A	2.527	-0.309466	0.05458	0.007263	0.0	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.43688	0.94;0.94	4.74	-2.0	0.07433	.	1.069320	0.07370	N	0.885599	T	0.32376	0.0827	L	0.41236	1.265	0.09310	N	1	P;P;P	0.47677	0.899;0.899;0.899	P;P;P	0.51355	0.466;0.466;0.667	T	0.36578	-0.9742	10	0.52906	T	0.07	0.0723	5.5768	0.17228	0.3761:0.1645:0.4594:0.0	.	385;385;385	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	R	385	ENSP00000377537:L385R;ENSP00000290418:L385R	ENSP00000290418:L385R	L	-	2	0	CCDC142	74561962	0.003000	0.15002	0.052000	0.19188	0.399000	0.30720	0.052000	0.14163	-0.208000	0.10171	0.460000	0.39030	CTT	A|0.997;C|0.003	0.003	strong		0.552	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		C	74708454	A	C	74708454	3	2	22	1	0	0	0	0	1	0	0	0	2776	72	3	5	1105	5	CCDC142	2	74708454	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	74708454	168490919	1424	6532	135	2								
TTC31	64427	hgsc.bcm.edu	37	chr2	74710491	74710491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccactggaggtcgctgctgCacccaaactttgcaaggaat	10	13	0	0	rs6707475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74710491C>T	ENST00000233623.5	+	2	90	c.83C>T	c.(82-84)gCa>gTa	p.A28V	CCDC142_ENST00000471713.1_5'Flank|TTC31_ENST00000410003.1_Missense_Mutation_p.A28V|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_5'UTR|CCDC142_ENST00000290418.4_5'Flank|CCDC142_ENST00000393965.3_5'Flank	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	28			A -> V (in dbSNP:rs6707475). {ECO:0000269|PubMed:15489334}.							breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTCGCTGCTGCACCCAAACTT	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	2741	0.547324	0.907	0.3256	5008	,	,		17254	0.8224		0.159	False		,,,				2504	0.3344				p.A28V		Atlas-SNP	.											.	TTC31	23	.	0			c.C83T						PASS	.	T	VAL/ALA	2987,943		1146,695,124	63	71	68		83	0.3	0.8	2	dbSNP_116	68	1204,7124		95,1014,3055	yes	missense	TTC31	NM_022492.4	64	1241,1709,3179	TT,TC,CC		14.4573,23.9949,34.1899	benign	28/520	74710491	4191,8067	1965	4164	6129	SO:0001583	missense	64427	exon2			CTGCTGCACCCAA	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.83C>T	2.37:g.74710491C>T	ENSP00000233623:p.Ala28Val	Somatic	75	0	0	1154	WXS	Illumina HiSeq	Phase_I	71	71	1	NM_022492	Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	CCDS42701.1	1119	0.5123626373626373	436	0.8861788617886179	98	0.27071823204419887	470	0.8216783216783217	115	0.1517150395778364	T	14.44	2.534928	0.45073	0.760051	0.144573	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.38077	1.16;1.16	4.27	0.28	0.15682	.	0.280031	0.23373	N	0.048891	T	0.00012	0.0000	N	0.00347	-1.61	0.09310	P	0.9999999999531156	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	9	0.02654	T	1	-1.4487	3.1691	0.06546	0.1962:0.3671:0.0:0.4367	rs6707475;rs52813769;rs59381657;rs6707475	28	Q49AM3	TTC31_HUMAN	V	28	ENSP00000387213:A28V;ENSP00000233623:A28V	ENSP00000233623:A28V	A	+	2	0	TTC31	74563999	0.061000	0.20836	0.771000	0.31576	0.900000	0.52787	-0.054000	0.11826	-0.006000	0.14370	-0.254000	0.11334	GCA	C|0.514;T|0.486	0.486	strong		0.582	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		T	74710491	C	T	74710491	3	4	22	1	0	0	0	0	1	0	0	0	16697	710	25	2	89	2	TTC31	2	74710491	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2037	74710491	168488882	1425	6533										
DQX1	165545	hgsc.bcm.edu	37	chr2	74746322	74746322	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatgcttatgggttaggagAaggtaatttccagtcccgtc	11	8	0	1	rs6546909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:74746322A>T	ENST00000404568.3	-	11	2061	c.1842T>A	c.(1840-1842)ctT>ctA	p.L614L	DQX1_ENST00000393951.2_Silent_p.L614L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	614						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGTTAGGAGAAGGTAATTTC	0.493													T|||	2620	0.523163	0.8101	0.3213	5008	,	,		19600	0.8185		0.16	False		,,,				2504	0.3476				p.L614L		Atlas-SNP	.											.	DQX1	95	.	0			c.T1842A						PASS	.	T		3057,1349	447.7+/-348.4	1084,889,230	88	93	91		1842	2.6	0.9	2	dbSNP_116	91	1324,7276	758.0+/-407.5	109,1106,3085	no	coding-synonymous	DQX1	NM_133637.2		1193,1995,3315	TT,TA,AA		15.3953,30.6173,33.6845		614/718	74746322	4381,8625	2203	4300	6503	SO:0001819	synonymous_variant	165545	exon11			TAGGAGAAGGTAA	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1842T>A	2.37:g.74746322A>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	148	147	0.993243	NM_133637	Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	CCDS1949.2																																																																																			A|0.580;T|0.420	0.420	strong		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		T	74746322	A	T	74746322	2	4	22	1	0	0	0	0	0	0	0	1	4751	233	9	5		5	DQX1	2	74746322	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35831	74746322	168453051	1426	6534										
HK2	3099	hgsc.bcm.edu	37	chr2	75101454	75101454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgacatggtggaaggcgaTgaggggcggatgtgtatcaa	17	5	1	1	rs2229622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75101454T>C	ENST00000290573.2	+	7	1353	c.753T>C	c.(751-753)gaT>gaC	p.D251D	HK2_ENST00000409174.1_Silent_p.D223D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	251	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGGAAGGCGATGAGGGGCGGA	0.587													C|||	1581	0.315695	0.6112	0.1888	5008	,	,		17571	0.2817		0.1869	False		,,,				2504	0.1738				p.D251D		Atlas-SNP	.											.	HK2	85	.	0			c.T753C						PASS	.	C		2329,2077	570.5+/-382.9	627,1075,501	61	60	60		753	-2.9	0.1	2	dbSNP_98	60	1693,6907	738.5+/-407.1	155,1383,2762	no	coding-synonymous	HK2	NM_000189.4		782,2458,3263	CC,CT,TT		19.686,47.1403,30.9242		251/918	75101454	4022,8984	2203	4300	6503	SO:0001819	synonymous_variant	3099	exon7			AGGCGATGAGGGG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.753T>C	2.37:g.75101454T>C		Somatic	289	1	0.00346021		WXS	Illumina HiSeq	Phase_I	301	300	0.996678	NM_000189	D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	CCDS1956.1																																																																																			T|0.680;C|0.320	0.320	strong		0.587	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		C	75101454	T	C	75101454	2	2	22	1	0	0	0	0	0	0	0	1	7191	1461	51	2		2	HK2	2	75101454	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	355132	75101454	168097919	1427	6535										
HK2	3099	hgsc.bcm.edu	37	chr2	75107671	75107671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaagatgctgcccacctaCgtgtgtgctaccccggacgg	12	14	1	1	rs28363033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75107671C>T	ENST00000290573.2	+	10	2145	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	HK2_ENST00000409174.1_Silent_p.Y487Y	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	515	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCCACCTACGTGTGTGCTA	0.597													C|||	56	0.0111821	0.0393	0.0043	5008	,	,		19072	0.0		0.001	False		,,,				2504	0.0				p.Y515Y		Atlas-SNP	.											.	HK2	85	.	0			c.C1545T						PASS	.	C		155,4251	107.3+/-145.7	4,147,2052	64	63	63		1545	-4	0.9	2	dbSNP_125	63	0,8600		0,0,4300	no	coding-synonymous	HK2	NM_000189.4		4,147,6352	TT,TC,CC		0.0,3.5179,1.1918		515/918	75107671	155,12851	2203	4300	6503	SO:0001819	synonymous_variant	3099	exon10			CACCTACGTGTGT		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1545C>T	2.37:g.75107671C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	163	62	0.380368	NM_000189	D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	CCDS1956.1																																																																																			C|0.988;T|0.012	0.012	strong		0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75107671	C	T	75107671	2	4	22	1	0	0	0	0	0	0	0	1	7191	547	19	1		1	HK2	2	75107671	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6217	75107671	168091702	1428	6536										
HK2	3099	hgsc.bcm.edu	37	chr2	75116527	75116527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggccgctgtggtggacaGgatacgagaaaaccgtgggc	16	9	0	1	rs2229629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75116527G>A	ENST00000290573.2	+	17	3131	c.2531G>A	c.(2530-2532)aGg>aAg	p.R844K	HK2_ENST00000409174.1_Missense_Mutation_p.R816K	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	844	Catalytic.|Hexokinase type-2 2.		R -> K (in dbSNP:rs2229629). {ECO:0000269|PubMed:7883123, ECO:0000269|Ref.4}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGTGGACAGGATACGAGAA	0.607													A|||	1045	0.208666	0.6346	0.0447	5008	,	,		17870	0.1131		0.0139	False		,,,				2504	0.0481				p.R844K		Atlas-SNP	.											.	HK2	85	.	0			c.G2531A	GRCh37	CM950635	HK2	M	rs2229629	PASS	.	A	LYS/ARG	2314,2092	570.9+/-383.0	597,1120,486	97	87	91		2531	5	1	2	dbSNP_98	91	106,8494	814.3+/-407.0	0,106,4194	no	missense	HK2	NM_000189.4	26	597,1226,4680	AA,AG,GG		1.2326,47.4807,18.6068	benign	844/918	75116527	2420,10586	2203	4300	6503	SO:0001583	missense	3099	exon17			TGGACAGGATACG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2531G>A	2.37:g.75116527G>A	ENSP00000290573:p.Arg844Lys	Somatic	199	1	0.00502513		WXS	Illumina HiSeq	Phase_I	205	205	1	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	413	0.1891025641025641	306	0.6219512195121951	19	0.052486187845303865	79	0.1381118881118881	9	0.011873350923482849	A	9.674	1.147434	0.21288	0.525193	0.012326	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.95853	-3.83;-3.83	4.97	4.97	0.65823	Hexokinase, C-terminal (1);	0.094115	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00403	-1.54	0.48696	P	3.069999999999462E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42292	-0.9460	9	0.02654	T	1	-8.0119	8.985	0.35988	0.9122:0.0:0.0878:0.0	rs2229629;rs2279426;rs17847150;rs57447301	844	P52789	HXK2_HUMAN	K	844;844;816	ENSP00000290573:R844K;ENSP00000387140:R816K	ENSP00000290573:R844K	R	+	2	0	HK2	74970035	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.291000	0.78721	0.933000	0.37291	-0.361000	0.07541	AGG	G|0.805;A|0.195	0.195	strong		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		A	75116527	G	A	75116527	3	1	22	1	0	0	0	0	1	0	0	0	7191	1000	35	2	2597	2	HK2	2	75116527	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8856	75116527	168082846	1429	6537										
POLE4	56655	hgsc.bcm.edu	37	chr2	75185856	75185856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgccccgagaggaggaggGacctgctggggaggcagcgg	21	10	0	1	rs12366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75185856G>T	ENST00000483063.1	+	1	238	c.50G>T	c.(49-51)gGa>gTa	p.G17V	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	17			G -> V (in dbSNP:rs12366). {ECO:0000269|PubMed:10801849, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17525332}.		DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			lung(1)	1					Cladribine(DB00242)	GAGGAGGAGGGACCTGCTGGG	0.751													G|||	1711	0.341653	0.2965	0.3545	5008	,	,		9775	0.4206		0.3917	False		,,,				2504	0.2607				p.G17V		Atlas-SNP	.											.	POLE4	2	.	0			c.G50T						PASS	.	G	VAL/GLY	1078,2746		168,742,1002	6	8	7		50	3.6	0.8	2	dbSNP_52	7	2577,4845		504,1569,1638	no	missense	POLE4	NM_019896.2	109	672,2311,2640	TT,TG,GG		34.7211,28.1904,32.5004	possibly-damaging	17/118	75185856	3655,7591	1912	3711	5623	SO:0001583	missense	56655	exon1			AGGAGGGACCTGC	AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"DNA polymerases"	18755	protein-coding gene	gene with protein product		607269	"polymerase (DNA-directed), epsilon 4 (p12 subunit)"			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.50G>T	2.37:g.75185856G>T	ENSP00000420176:p.Gly17Val	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	55	30	0.545455	NM_019896	Q53TR2	Missense_Mutation	SNP	ENST00000483063.1	37	CCDS1957.1	827	0.37866300366300365	124	0.25203252032520324	145	0.4005524861878453	253	0.4423076923076923	305	0.4023746701846966	G	11.83	1.756056	0.31137	0.281904	0.347211	ENSG00000115350	ENST00000483063	T	0.30981	1.51	5.41	3.58	0.41010	Histone-fold (1);	0.159172	0.56097	D	0.000033	T	0.00012	0.0000	N	0.12182	0.205	0.18873	P	0.9999885704	P	0.34780	0.468	B	0.39503	0.301	T	0.46414	-0.9193	9	0.49607	T	0.09	-6.284	7.1936	0.25839	0.0936:0.18:0.7264:0.0	rs12366;rs3171885;rs17296293;rs17845953;rs17858934	17	Q9NR33	DPOE4_HUMAN	V	17	ENSP00000420176:G17V	ENSP00000420176:G17V	G	+	2	0	POLE4	75039364	0.978000	0.34361	0.787000	0.31911	0.697000	0.40408	2.026000	0.41069	0.631000	0.30412	0.591000	0.81541	GGA	G|0.638;T|0.362	0.362	strong		0.751	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252237.2	NM_019896		T	75185856	G	T	75185856	3	4	22	1	0	0	0	0	1	0	0	0	12199	1174	41	4	52	4	POLE4	2	75185856	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69329	75185856	168013517	1430	6538										
TACR1	6869	hgsc.bcm.edu	37	chr2	75276649	75276649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggaggtcaggtccagggaCgagggtgtggccttggggcc	20	8	1	0	rs34117315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75276649C>T	ENST00000305249.5	-	5	1899	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	378					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGTCCAGGGACGAGGGTGTGG	0.612													C|||	299	0.0597045	0.1309	0.0144	5008	,	,		18568	0.0565		0.001	False		,,,				2504	0.0593				p.S378S	Pancreas(64;62 1268 3653 14826 43765)	Atlas-SNP	.											TACR1,colon,carcinoma,-1,5	TACR1	62	5	0			c.G1134A						PASS	.	C		407,3999	201.8+/-224.7	12,383,1808	116	114	115		1134	-9.6	0	2	dbSNP_126	115	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	TACR1	NM_001058.3		12,390,6101	TT,TC,CC		0.0814,9.2374,3.1831		378/408	75276649	414,12592	2203	4300	6503	SO:0001819	synonymous_variant	6869	exon5			CAGGGACGAGGGT	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.1134G>A	2.37:g.75276649C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	220	108	0.490909	NM_001058	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																			C|0.957;T|0.043	0.043	strong		0.612	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		T	75276649	C	T	75276649	2	4	22	1	0	0	0	0	0	0	0	1	15502	523	19	1		1	TACR1	2	75276649	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90793	75276649	167922724	1431	6539										
TACR1	6869	hgsc.bcm.edu	37	chr2	75425728	75425728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaagacagcggcgatgggAaagaagttgtggaacttgca	16	6	0	2	rs6715729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75425728A>G	ENST00000305249.5	-	1	1098	c.333T>C	c.(331-333)ttT>ttC	p.F111F	TACR1_ENST00000409848.3_Silent_p.F111F	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	111					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CGGCGATGGGAAAGAAGTTGT	0.498													G|||	2830	0.565096	0.9085	0.4971	5008	,	,		21192	0.3869		0.4682	False		,,,				2504	0.4325				p.F111F	Pancreas(64;62 1268 3653 14826 43765)	Atlas-SNP	.											.	TACR1	62	.	0			c.T333C						PASS	.	G	,	3695,711	291.0+/-281.2	1551,593,59	161	143	149		333,333	5.4	1	2	dbSNP_116	149	4113,4487	586.5+/-392.1	1001,2111,1188	no	coding-synonymous,coding-synonymous	TACR1	NM_001058.3,NM_015727.2	,	2552,2704,1247	GG,GA,AA		47.8256,16.1371,39.9662	,	111/408,111/312	75425728	7808,5198	2203	4300	6503	SO:0001819	synonymous_variant	6869	exon1			GATGGGAAAGAAG	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.333T>C	2.37:g.75425728A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_001058	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																			A|0.425;G|0.575	0.575	strong		0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		G	75425728	A	G	75425728	2	3	22	1	0	0	0	0	0	0	0	1	15502	243	9	2		2	TACR1	2	75425728	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	149079	75425728	167773645	1432	6540										
MRPL19	9801	hgsc.bcm.edu	37	chr2	75874015	75874015	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccaggactctgctccccCcgccggcctctatcgcctgc	9	22	2	0	rs11552948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:75874015C>G	ENST00000393909.2	+	1	107	c.82C>G	c.(82-84)Ccg>Gcg	p.P28A	MRPL19_ENST00000358788.6_Missense_Mutation_p.P28A|MRPL19_ENST00000409374.1_Missense_Mutation_p.P28A	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	28					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TCTGCTCCCCCCGCCGGCCTC	0.667													C|||	141	0.028155	0.0605	0.0058	5008	,	,		14162	0.0		0.0219	False		,,,				2504	0.0358				p.P28A		Atlas-SNP	.											.	MRPL19	21	.	0			c.C82G						PASS	.	C	ALA/PRO	163,3473		0,163,1655	7	9	8		82	-0.1	0	2	dbSNP_120	8	126,7928		2,122,3903	yes	missense	MRPL19	NM_014763.3	27	2,285,5558	GG,GC,CC		1.5644,4.4829,2.4722	benign	28/293	75874015	289,11401	1818	4027	5845	SO:0001583	missense	9801	exon1			CTCCCCCCGCCGG	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.82C>G	2.37:g.75874015C>G	ENSP00000377486:p.Pro28Ala	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	266	134	0.503759	NM_014763	Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	CCDS1960.2	47	0.02152014652014652	26	0.052845528455284556	4	0.011049723756906077	0	0.0	17	0.022427440633245383	C	0.017	-1.489919	0.01018	0.044829	0.015644	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	3.8	-0.134	0.13481	.	1.150850	0.06366	N	0.712679	T	0.00906	0.0030	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.02654	T	1	0.0141	4.5961	0.12330	0.2059:0.3526:0.4415:0.0	rs11552948	28	P49406	RM19_HUMAN	A	28	.	ENSP00000351639:P28A	P	+	1	0	MRPL19	75727523	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.266000	0.18534	-0.036000	0.13669	-0.896000	0.02909	CCG	C|0.980;G|0.020	0.020	strong		0.667	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		G	75874015	C	G	75874015	3	3	22	1	0	0	0	0	1	0	0	0	9784	623	22	4	84	4	MRPL19	2	75874015	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448287	75874015	167325358	1433	6541										
LRRTM1	347730	hgsc.bcm.edu	37	chr2	80529706	80529706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggcgtgctcgccgcctggAagagccacggtggcaggctc	16	14	0	1	rs35054232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:80529706A>G	ENST00000295057.3	-	2	1895	c.1239T>C	c.(1237-1239)ctT>ctC	p.L413L	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L413L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	413					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCGCCTGGAAGAGCCACGG	0.682										HNSCC(69;0.2)			G|||	228	0.0455272	0.1604	0.0115	5008	,	,		16729	0.004		0.001	False		,,,				2504	0.0031				p.L413L		Atlas-SNP	.											.	LRRTM1	251	.	0			c.T1239C						PASS	.	G	,,	569,3833	754.3+/-412.4	41,487,1673	49	45	47		,,1239	2	1	2	dbSNP_126	47	37,8557	806.0+/-407.3	0,37,4260	no	intron,intron,coding-synonymous	CTNNA2,LRRTM1	NM_001164883.1,NM_004389.3,NM_178839.4	,,	41,524,5933	GG,GA,AA		0.4305,12.9259,4.663	,,	,,413/523	80529706	606,12390	2201	4297	6498	SO:0001819	synonymous_variant	347730	exon2			GCCTGGAAGAGCC	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1239T>C	2.37:g.80529706A>G		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	37	13	0.351351	NM_178839	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	CCDS1966.1																																																																																			A|0.958;G|0.042	0.042	strong		0.682	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		G	80529706	A	G	80529706	2	3	22	1	0	0	0	0	0	0	0	1	9039	233	9	2		2	LRRTM1	2	80529706	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4655691	80529706	162669667	1434	6542										
CTNNA2	1496	hgsc.bcm.edu	37	chr2	80620370	80620370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaggagatcctctcaacaTtgcgattgataagatgacta	8	7	1	4	rs61754542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:80620370T>C	ENST00000402739.4	+	7	1096	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	CTNNA2_ENST00000361291.4_Missense_Mutation_p.I398T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I43T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I364T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I364T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I364T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I364T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	364					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCTCTCAACATTGCGATTGAT	0.294													T|||	69	0.013778	0.0499	0.0014	5008	,	,		16684	0.0		0.001	False		,,,				2504	0.001				p.I364T		Atlas-SNP	.											.	CTNNA2	462	.	0			c.T1091C						PASS	.	T	THR/ILE,THR/ILE	161,3487		4,153,1667	99	93	95		1091,1091	5.9	1	2	dbSNP_129	95	4,8156		0,4,4076	yes	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	89,89	4,157,5743	CC,CT,TT		0.049,4.4134,1.3974	benign,benign	364/861,364/906	80620370	165,11643	1824	4080	5904	SO:0001583	missense	1496	exon8			TCAACATTGCGAT		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1091T>C	2.37:g.80620370T>C	ENSP00000384638:p.Ile364Thr	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	227	93	0.409692	NM_001164883	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		24	0.01098901098901099	23	0.046747967479674794	0	0.0	0	0.0	1	0.0013192612137203166	T	8.517	0.867937	0.17250	0.044134	4.9E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;2.59;1.3	5.88	5.88	0.94601	.	0.135082	0.52532	D	0.000073	T	0.02342	0.0072	N	0.02142	-0.665	0.37091	D	0.89945	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.16808	-1.0390	9	.	.	.	.	15.9407	0.79750	0.0:0.0:0.0:1.0	rs61754542	364;364;364	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	364;364;398;364;364;364;43;29	ENSP00000418191:I364T;ENSP00000419295:I364T;ENSP00000355398:I398T;ENSP00000384638:I364T;ENSP00000444675:I364T;ENSP00000441705:I364T;ENSP00000341500:I43T;ENSP00000386587:I29T	.	I	+	2	0	CTNNA2	80473881	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.197000	0.42696	2.243000	0.73865	0.533000	0.62120	ATT	T|0.992;C|0.008	0.008	strong		0.294	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		C	80620370	T	C	80620370	3	2	22	1	0	0	0	0	1	0	0	0	4013	1493	52	2	909	2	CTNNA2	2	80620370	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	90664	80620370	162579003	1435	6543										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84752784	84752784	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggaatcattaaacgtccAgtaagcatagcaaaaaaaag	8	7	1	0	rs73945104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:84752784A>C	ENST00000237449.6	+	2	329	c.321A>C	c.(319-321)ccA>ccC	p.P107P	DNAH6_ENST00000398278.2_Silent_p.P107P|DNAH6_ENST00000468661.1_3'UTR|DNAH6_ENST00000389394.3_Silent_p.P107P			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	107	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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTAAACGTCCAGTAAGCATAG	0.348													A|||	65	0.0129792	0.0477	0.0029	5008	,	,		16979	0.0		0.0	False		,,,				2504	0.0				p.P107P		Atlas-SNP	.											.	DNAH6	194	.	0			c.A321C						PASS	.						114	92	98					2																	84752784		692	1591	2283	SO:0001819	synonymous_variant	1768	exon3			ACGTCCAGTAAGC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.321A>C	2.37:g.84752784A>C		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	261	130	0.498084	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			A|0.989;C|0.011	0.011	strong		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84752784	A	C	84752784	2	2	22	1	0	0	0	0	0	0	0	1	4605	175	7	5		5	DNAH6	2	84752784	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4132414	84752784	158446589	1436	6544										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84816015	84816015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatattgaataatctgcaAtctgttctggctgatcttca	6	9	6	2	rs1006244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:84816015A>G	ENST00000237449.6	+	15	2555	c.2547A>G	c.(2545-2547)caA>caG	p.Q849Q	DNAH6_ENST00000398278.2_Silent_p.Q849Q|DNAH6_ENST00000389394.3_Silent_p.Q849Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	849	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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATAATCTGCAATCTGTTCTGG	0.348													A|||	544	0.108626	0.3169	0.0548	5008	,	,		16616	0.0109		0.0209	False		,,,				2504	0.0562				p.Q849Q		Atlas-SNP	.											.	DNAH6	194	.	0			c.A2547G						PASS	.	A		399,985		49,301,342	140	120	126		2547	-7	0	2	dbSNP_86	126	84,3096		0,84,1506	no	coding-synonymous	DNAH6	NM_001370.1		49,385,1848	GG,GA,AA		2.6415,28.8295,10.5828		849/4159	84816015	483,4081	692	1590	2282	SO:0001819	synonymous_variant	1768	exon16			TCTGCAATCTGTT	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2547A>G	2.37:g.84816015A>G		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	310	144	0.464516	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			A|0.901;G|0.099	0.099	strong		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84816015	A	G	84816015	2	3	22	1	0	0	0	0	0	0	0	1	4605	98	4	2		2	DNAH6	2	84816015	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63231	84816015	158383358	1437	6545										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84861723	84861723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagaagttctgtccgtcatCgcgcagcaactcattaccat	7	12	3	1	rs7570005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:84861723C>T	ENST00000237449.6	+	29	4619	c.4611C>T	c.(4609-4611)atC>atT	p.I1537I	DNAH6_ENST00000398278.2_Silent_p.I1537I|DNAH6_ENST00000389394.3_Silent_p.I1537I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1537	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTCCGTCATCGCGCAGCAAC	0.468													T|||	867	0.173123	0.4622	0.0937	5008	,	,		18058	0.0129		0.0775	False		,,,				2504	0.1022				p.I1537I		Atlas-SNP	.											.	DNAH6	194	.	0			c.C4611T						PASS	.	T		600,784		116,368,208	76	67	70		4611	-5.5	0.7	2	dbSNP_116	70	251,2931		8,235,1348	no	coding-synonymous	DNAH6	NM_001370.1		124,603,1556	TT,TC,CC		7.8881,43.3526,18.6378		1537/4159	84861723	851,3715	692	1591	2283	SO:0001819	synonymous_variant	1768	exon30			CGTCATCGCGCAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4611C>T	2.37:g.84861723C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	53	0.46087	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			C|0.843;T|0.157	0.157	strong		0.468	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84861723	C	T	84861723	2	4	22	1	0	0	0	0	0	0	0	1	4605	874	31	1		1	DNAH6	2	84861723	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45708	84861723	158337650	1438	6546										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84921433	84921433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgttggagtaggaggcacAggaaagcagtcactcacgag	14	8	2	0	rs1192295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:84921433A>G	ENST00000237449.6	+	45	7361	c.7353A>G	c.(7351-7353)acA>acG	p.T2451T	DNAH6_ENST00000602588.1_Silent_p.T423T|DNAH6_ENST00000398278.2_Silent_p.T2402T|DNAH6_ENST00000389394.3_Silent_p.T2451T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2451	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAGGAGGCACAGGAAAGCAGT	0.443													A|||	498	0.0994409	0.2602	0.0432	5008	,	,		21203	0.002		0.0646	False		,,,				2504	0.0583				p.T2451T		Atlas-SNP	.											.	DNAH6	194	.	0			c.A7353G						PASS	.	A		306,1078		31,244,417	153	136	141		7353	-6.6	0.9	2	dbSNP_87	141	173,3009		4,165,1422	no	coding-synonymous	DNAH6	NM_001370.1		35,409,1839	GG,GA,AA		5.4368,22.1098,10.4906		2451/4159	84921433	479,4087	692	1591	2283	SO:0001819	synonymous_variant	1768	exon46			AGGCACAGGAAAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7353A>G	2.37:g.84921433A>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	176	78	0.443182	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			A|0.904;G|0.096	0.096	strong		0.443	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84921433	A	G	84921433	2	3	22	1	0	0	0	0	0	0	0	1	4605	175	7	3		3	DNAH6	2	84921433	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59710	84921433	158277940	1439	6547										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84924783	84924783	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttgaaaaggatgaactgGagcaggttttagcggccacc	12	7	0	2	rs73943384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:84924783G>C	ENST00000237449.6	+	46	7617	c.7609G>C	c.(7609-7611)Gag>Cag	p.E2537Q	DNAH6_ENST00000602588.1_Missense_Mutation_p.E509Q|DNAH6_ENST00000398278.2_Missense_Mutation_p.E2488Q|DNAH6_ENST00000389394.3_Missense_Mutation_p.E2537Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2537	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGATGAACTGGAGCAGGTTTT	0.428													G|||	68	0.0135783	0.0499	0.0029	5008	,	,		16198	0.0		0.0	False		,,,				2504	0.0				p.E2537Q		Atlas-SNP	.											.	DNAH6	194	.	0			c.G7609C						PASS	.	G	GLN/GLU	42,1342		0,42,650	138	126	130		7609	5.7	1	2	dbSNP_130	130	1,3181		0,1,1590	yes	missense	DNAH6	NM_001370.1	29	0,43,2240	CC,CG,GG		0.0314,3.0347,0.9417	probably-damaging	2537/4159	84924783	43,4523	692	1591	2283	SO:0001583	missense	1768	exon47			GAACTGGAGCAGG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7609G>C	2.37:g.84924783G>C	ENSP00000237449:p.Glu2537Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	G	25.4	4.630590	0.87660	0.030347	3.14E-4	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.56103	0.73;0.48;0.73	5.67	5.67	0.87782	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	.	.	.	.	T	0.38401	0.1039	L	0.57130	1.785	0.47949	D	0.999553	D;D	0.67145	0.996;0.99	D;D	0.70716	0.97;0.962	T	0.57751	-0.7757	9	0.49607	T	0.09	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	2537;2488	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	Q	2537;2488;2537	ENSP00000374045:E2537Q;ENSP00000381326:E2488Q;ENSP00000237449:E2537Q	ENSP00000237449:E2537Q	E	+	1	0	DNAH6	84778294	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.379000	0.59575	2.682000	0.91365	0.484000	0.47621	GAG	G|0.989;C|0.011	0.011	strong		0.428	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84924783	G	C	84924783	3	2	22	1	0	0	0	0	1	0	0	0	4605	1175	41	4	7791	4	DNAH6	2	84924783	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3350	84924783	158274590	1440	6548										
C2orf89	129293	hgsc.bcm.edu	37	chr2	85059205	85059205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggtcgtccagcaggggcGtgttctacctcatagccttc	12	12	2	0	rs60429698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85059205G>A	ENST00000409520.2	-	5	1098	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Silent_p.H303H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	352					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CAGCAGGGGCGTGTTCTACCT	0.562													G|||	104	0.0207668	0.0772	0.0029	5008	,	,		19501	0.0		0.0	False		,,,				2504	0.0				p.A303A		Atlas-SNP	.											.	.	.	.	0			c.C909T						PASS	.	G		216,3844		7,202,1821	134	134	134		909	-0.3	1	2	dbSNP_129	134	2,8402		0,2,4200	no	coding-synonymous	C2orf89	NM_001080824.1		7,204,6021	AA,AG,GG		0.0238,5.3202,1.749		303/457	85059205	218,12246	2030	4202	6232	SO:0001819	synonymous_variant	129293	exon4			AGGGGCGTGTTCT	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1056C>T	2.37:g.85059205G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_001080824	B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37																																																																																				G|0.982;A|0.018	0.018	strong		0.562	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		A	85059205	G	A	85059205	2	1	22	1	0	0	0	0	0	0	0	1	2203	1136	40	1		1	C2orf89	2	85059205	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	134422	85059205	158140168	1441	6549										
TCF7L1	83439	hgsc.bcm.edu	37	chr2	85510654	85510654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccctcctcgatgtccccTccagcgccacagtcaaggac	9	19	1	0	rs115942112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85510654T>A	ENST00000282111.3	+	4	753	c.478T>A	c.(478-480)Tcc>Acc	p.S160T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	160	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGATGTCCCCTCCAGCGCCAC	0.507													T|||	60	0.0119808	0.0393	0.0	5008	,	,		20302	0.005		0.0	False		,,,				2504	0.0031				p.S160T		Atlas-SNP	.											.	TCF7L1	44	.	0			c.T478A						PASS	.	T	THR/SER	134,4272	97.1+/-135.8	1,132,2070	257	224	235		478	3.1	1	2	dbSNP_132	235	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TCF7L1	NM_031283.2	58	1,133,6369	AA,AT,TT		0.0116,3.0413,1.038	benign	160/589	85510654	135,12871	2203	4300	6503	SO:0001583	missense	83439	exon4			GTCCCCTCCAGCG	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.478T>A	2.37:g.85510654T>A	ENSP00000282111:p.Ser160Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	131	57	0.435115	NM_031283	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	21	0.009615384615384616	21	0.042682926829268296	0	0.0	0	0.0	0	0.0	T	12.34	1.910078	0.33721	0.030413	1.16E-4	ENSG00000152284	ENST00000282111;ENST00000442813	D	0.98550	-4.99	5.44	3.08	0.35506	CTNNB1 binding, N-teminal (1);	0.586502	0.18208	N	0.148291	D	0.83608	0.5291	N	0.22421	0.69	0.26675	N	0.971648	B	0.33000	0.393	B	0.34536	0.185	D	0.84356	0.0535	10	0.56958	D	0.05	.	5.5742	0.17215	0.0:0.09:0.1841:0.7258	.	160	Q9HCS4	TF7L1_HUMAN	T	160;10	ENSP00000282111:S160T	ENSP00000282111:S160T	S	+	1	0	TCF7L1	85364165	0.989000	0.36119	0.998000	0.56505	0.988000	0.76386	0.065000	0.14466	0.382000	0.24878	0.533000	0.62120	TCC	T|0.989;A|0.011	0.011	strong		0.507	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		A	85510654	T	A	85510654	3	1	22	1	0	0	0	0	1	0	0	0	15694	1551	54	5	492	5	TCF7L1	2	85510654	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	451449	85510654	157688719	1442	6550										
RETSAT	54884	hgsc.bcm.edu	37	chr2	85570440	85570440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaagttccgcttcaggatGgcgctgctgcacagcagggc	13	12	1	0	rs150706527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85570440G>A	ENST00000295802.4	-	11	1870	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Silent_p.A525A|RETSAT_ENST00000475624.2_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	586					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCTTCAGGATGGCGCTGCTGC	0.552													G|||	17	0.00339457	0.0129	0.0	5008	,	,		32923	0.0		0.0	False		,,,				2504	0.0				p.A586A		Atlas-SNP	.											RETSAT,NS,carcinoma,-2,1	RETSAT	56	1	0			c.C1758T						PASS	.	G		51,4355	50.9+/-86.3	0,51,2152	81	84	83		1758	1.9	1	2	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	RETSAT	NM_017750.3		0,51,6452	AA,AG,GG		0.0,1.1575,0.3921		586/611	85570440	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	54884	exon11			CAGGATGGCGCTG	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1758C>T	2.37:g.85570440G>A		Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	328	73	0.222561	NM_017750	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	7.937	0.741884	0.15642	0.011575	0.0	ENSG00000042445	ENST00000449375	.	.	.	4.89	1.86	0.25419	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21655	-1.0239	4	.	.	.	-15.1159	4.0777	0.09912	0.1989:0.0:0.6169:0.1842	.	.	.	.	L	375	.	.	P	-	2	0	RETSAT	85423951	0.882000	0.30256	0.993000	0.49108	0.657000	0.38888	0.224000	0.17738	0.579000	0.29504	0.462000	0.41574	CCA	G|0.996;A|0.004	0.004	strong		0.552	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85570440	G	A	85570440	2	1	22	1	0	0	0	0	0	0	0	1	13238	1335	47	2		2	RETSAT	2	85570440	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59786	85570440	157628933	1443	6551										
RETSAT	54884	hgsc.bcm.edu	37	chr2	85570857	85570857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggtcagccccgtagcagGcacctcggggagcagccaga	14	14	1	1	rs4832169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85570857G>A	ENST00000295802.4	-	10	1710	c.1598C>T	c.(1597-1599)gCc>gTc	p.A533V	RETSAT_ENST00000263854.6_Silent_p.C477C|RETSAT_ENST00000457495.2_Missense_Mutation_p.A472V|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	533			A -> V (in dbSNP:rs4832169).		oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCGTAGCAGGCACCTCGGGG	0.612																																					p.A533V		Atlas-SNP	.											.	RETSAT	56	.	0			c.C1598T						PASS	.						45	47	46					2																	85570857		2203	4300	6503	SO:0001583	missense	54884	exon10			TAGCAGGCACCTC	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1598C>T	2.37:g.85570857G>A	ENSP00000295802:p.Ala533Val	Somatic	545	0	0		WXS	Illumina HiSeq	Phase_I	426	47	0.110329	NM_017750	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.31|18.31	3.596672|3.596672	0.66332|0.66332	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000457495|ENST00000449375	T;T|.	0.25250|.	1.84;1.81|.	5.02|5.02	4.0|4.0	0.46444|0.46444	.|.	0.122893|.	0.52532|.	D|.	0.000064|.	T|T	0.60971|0.60971	0.2310|0.2310	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	P|P	1.0|1.0	P;P;P|.	0.44659|.	0.534;0.534;0.84|.	B;B;B|.	0.41374|.	0.355;0.355;0.288|.	T|T	0.70081|0.70081	-0.4970|-0.4970	9|4	0.49607|.	T|.	0.09|.	-11.1835|-11.1835	9.7757|9.7757	0.40618|0.40618	0.0:0.0:0.6602:0.3397|0.0:0.0:0.6602:0.3397	rs4832169;rs12988064;rs4832169|rs4832169;rs12988064;rs4832169	472;472;533|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	V|S	533;472|322	ENSP00000295802:A533V;ENSP00000405040:A472V|.	ENSP00000295802:A533V|.	A|P	-|-	2|1	0|0	RETSAT|RETSAT	85424368|85424368	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.496000|0.496000	0.33645|0.33645	4.580000|4.580000	0.60942|0.60942	2.492000|2.492000	0.84095|0.84095	0.561000|0.561000	0.74099|0.74099	GCC|CCT	G|0.786;A|0.214	0.214	strong		0.612	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85570857	G	A	85570857	3	1	22	1	0	0	0	0	1	0	0	0	13238	1203	42	2	242	2	RETSAT	2	85570857	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	417	85570857	157628516	1444	6552										
MAT2A	4144	hgsc.bcm.edu	37	chr2	85769711	85769711	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgctggtttgactggacgCaaaatcattgtggacactta	11	7	1	1	rs1078004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85769711C>G	ENST00000306434.3	+	7	915	c.792C>G	c.(790-792)cgC>cgG	p.R264R	MAT2A_ENST00000409017.1_Silent_p.R201R	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	264					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R264R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGACTGGACGCAAAATCATTG	0.453													G|||	2468	0.492812	0.7194	0.3934	5008	,	,		20209	0.3859		0.494	False		,,,				2504	0.3661				p.R264R		Atlas-SNP	.											MAT2A,NS,carcinoma,0,1	MAT2A	23	1	1	Substitution - coding silent(1)	stomach(1)	c.C792G						PASS	.	G		2978,1428	464.2+/-353.8	1016,946,241	132	141	138		792	2.8	1	2	dbSNP_86	138	3955,4645	602.6+/-394.5	911,2133,1256	yes	coding-synonymous	MAT2A	NM_005911.5		1927,3079,1497	GG,GC,CC		45.9884,32.4103,46.6938		264/396	85769711	6933,6073	2203	4300	6503	SO:0001819	synonymous_variant	4144	exon7			TGGACGCAAAATC		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.792C>G	2.37:g.85769711C>G		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	183	99	0.540984	NM_005911	A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																			C|0.483;G|0.517	0.517	strong		0.453	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		G	85769711	C	G	85769711	2	3	22	1	0	0	0	0	0	0	0	1	9330	697	25	4		4	MAT2A	2	85769711	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	198854	85769711	157429662	1445	6553										
GGCX	2677	hgsc.bcm.edu	37	chr2	85780131	85780131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcacgtgctggtgggaGcgggagtgcaccatcatgtc	14	10	3	0	rs2592551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85780131G>A	ENST00000233838.4	-	9	1298	c.1218C>T	c.(1216-1218)cgC>cgT	p.R406R	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R349R	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	406					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.R406R(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTGGTGGGAGCGGGAGTGCA	0.537													G|||	1432	0.285942	0.3903	0.2219	5008	,	,		19279	0.3095		0.3111	False		,,,				2504	0.1401				p.R406R		Atlas-SNP	.											GGCX,NS,carcinoma,0,1	GGCX	44	1	1	Substitution - coding silent(1)	stomach(1)	c.C1218T						PASS	.	G	,	1547,2859	486.9+/-360.8	280,987,936	188	165	173		1218,1047	4.7	1	2	dbSNP_100	173	2388,6212	396.6+/-345.4	334,1720,2246	no	coding-synonymous,coding-synonymous	GGCX	NM_000821.5,NM_001142269.2	,	614,2707,3182	AA,AG,GG		27.7674,35.1112,30.2553	,	406/759,349/702	85780131	3935,9071	2203	4300	6503	SO:0001819	synonymous_variant	2677	exon9			GTGGGAGCGGGAG		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1218C>T	2.37:g.85780131G>A		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	305	140	0.459016	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	CCDS1978.1																																																																																			G|0.693;A|0.307	0.307	strong		0.537	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		A	85780131	G	A	85780131	2	1	22	1	0	0	0	0	0	0	0	1	6356	958	34	2		2	GGCX	2	85780131	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10420	85780131	157419242	1446	6554										
GGCX	2677	hgsc.bcm.edu	37	chr2	85780536	85780536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaacagttgttgcaaccttCgggggcagtaggacaccagc	13	11	0	0	rs699664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85780536C>T	ENST00000233838.4	-	8	1054	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R268Q	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	325			R -> Q (in dbSNP:rs699664). {ECO:0000269|PubMed:1749935}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TTGCAACCTTCGGGGGCAGTA	0.597													T|||	1892	0.377796	0.6626	0.2695	5008	,	,		17272	0.3095		0.3668	False		,,,				2504	0.1513				p.R325Q		Atlas-SNP	.											.	GGCX	44	.	0			c.G974A	GRCh37	CM073086	GGCX	M	rs699664	PASS	.	T	GLN/ARG,GLN/ARG	2648,1758	516.2+/-369.1	807,1034,362	62	70	67		974,803	-0.8	0.1	2	dbSNP_86	67	2804,5796	672.2+/-402.9	469,1866,1965	yes	missense,missense	GGCX	NM_000821.5,NM_001142269.2	43,43	1276,2900,2327	TT,TC,CC		32.6047,39.9001,41.9191	benign,benign	325/759,268/702	85780536	5452,7554	2203	4300	6503	SO:0001583	missense	2677	exon8			AACCTTCGGGGGC		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.974G>A	2.37:g.85780536C>T	ENSP00000233838:p.Arg325Gln	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	154	66	0.428571	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	906	0.41483516483516486	340	0.6910569105691057	106	0.292817679558011	188	0.32867132867132864	272	0.35883905013192613	T	0.271	-0.992796	0.02162	0.600999	0.326047	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92249	-3.0;-3.0	5.64	-0.842	0.10748	.	1.025530	0.07686	N	0.937884	T	0.00012	0.0000	N	0.20685	0.6	0.80722	P	0.0	B;B	0.13145	0.007;0.003	B;B	0.09377	0.004;0.002	T	0.40251	-0.9573	9	0.10902	T	0.67	0.4177	1.9336	0.03332	0.1363:0.3536:0.1402:0.3698	rs699664;rs17617541;rs52835631;rs699664	268;325	E9PEE1;P38435	.;VKGC_HUMAN	Q	325;268	ENSP00000233838:R325Q;ENSP00000408045:R268Q	ENSP00000233838:R325Q	R	-	2	0	GGCX	85634047	0.000000	0.05858	0.123000	0.21794	0.094000	0.18550	-0.117000	0.10708	-0.152000	0.11156	-1.170000	0.01741	CGA	C|0.580;T|0.420	0.420	strong		0.597	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		T	85780536	C	T	85780536	3	4	22	1	0	0	0	0	1	0	0	0	6356	884	31	1	1334	1	GGCX	2	85780536	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	405	85780536	157418837	1447	6555										
VAMP8	8673	hgsc.bcm.edu	37	chr2	85806266	85806266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttggaacatctccgcaaCaagacagaggatctggaagc	10	10	2	2	rs3731828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85806266C>T	ENST00000263864.5	+	2	294	c.138C>T	c.(136-138)aaC>aaT	p.N46N	VAMP8_ENST00000409760.1_Silent_p.N46N|VAMP8_ENST00000432071.1_Silent_p.N20N	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	46	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)		p.N46N(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						ATCTCCGCAACAAGACAGAGG	0.542													C|||	1419	0.283347	0.3971	0.2161	5008	,	,		17696	0.3085		0.2982	False		,,,				2504	0.136				p.N46N		Atlas-SNP	.											VAMP8,NS,carcinoma,0,1	VAMP8	10	1	1	Substitution - coding silent(1)	stomach(1)	c.C138T						PASS	.	C		1556,2850	452.8+/-350.1	282,992,929	39	38	38		138	2.9	1	2	dbSNP_107	38	2352,6248	362.0+/-332.6	325,1702,2273	no	coding-synonymous	VAMP8	NM_003761.4		607,2694,3202	TT,TC,CC		27.3488,35.3155,30.0477		46/101	85806266	3908,9098	2203	4300	6503	SO:0001819	synonymous_variant	8673	exon2			CCGCAACAAGACA	AF053233	CCDS1979.1	2p12-p11.2	2013-02-13	2012-10-17		ENSG00000118640	ENSG00000118640		"Vesicle-associated membrane proteins"	12647	protein-coding gene	gene with protein product	"endobrevin"	603177				9878266, 9614193	Standard	NM_003761		Approved	EDB	uc002spt.4	Q9BV40	OTTHUMG00000130180	ENST00000263864.5:c.138C>T	2.37:g.85806266C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	57	30	0.526316	NM_003761	O60625|Q53SP9|Q6IB09	Silent	SNP	ENST00000263864.5	37	CCDS1979.1																																																																																			C|0.698;T|0.302	0.302	strong		0.542	VAMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252498.3	NM_003761		T	85806266	C	T	85806266	2	4	22	1	0	0	0	0	0	0	0	1	17115	477	17	2		2	VAMP8	2	85806266	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25730	85806266	157393107	1448	6556										
VAMP8	8673	hgsc.bcm.edu	37	chr2	85808737	85808737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatcgcagaaggtggctcgAaaattctggtggaagaacgt	13	7	1	2	rs1009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85808737A>G	ENST00000263864.5	+	3	357	c.201A>G	c.(199-201)cgA>cgG	p.R67R	VAMP8_ENST00000409760.1_3'UTR|VAMP5_ENST00000306384.4_5'Flank|VAMP8_ENST00000432071.1_Silent_p.R41R	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	67	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)		p.R67R(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AGGTGGCTCGAAAATTCTGGT	0.468													G|||	2201	0.439497	0.5976	0.3473	5008	,	,		21409	0.3859		0.4314	False		,,,				2504	0.3548				p.R67R		Atlas-SNP	.											VAMP8,NS,carcinoma,0,1	VAMP8	10	1	1	Substitution - coding silent(1)	stomach(1)	c.A201G						PASS	.	G		2423,1983	557.4+/-379.7	672,1079,452	378	321	340		201	0.4	1	2	dbSNP_36	340	3554,5046	629.9+/-398.3	734,2086,1480	no	coding-synonymous	VAMP8	NM_003761.4		1406,3165,1932	GG,GA,AA		41.3256,45.0068,45.9557		67/101	85808737	5977,7029	2203	4300	6503	SO:0001819	synonymous_variant	8673	exon3			GGCTCGAAAATTC	AF053233	CCDS1979.1	2p12-p11.2	2013-02-13	2012-10-17		ENSG00000118640	ENSG00000118640		"Vesicle-associated membrane proteins"	12647	protein-coding gene	gene with protein product	"endobrevin"	603177				9878266, 9614193	Standard	NM_003761		Approved	EDB	uc002spt.4	Q9BV40	OTTHUMG00000130180	ENST00000263864.5:c.201A>G	2.37:g.85808737A>G		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	252	131	0.519841	NM_003761	O60625|Q53SP9|Q6IB09	Silent	SNP	ENST00000263864.5	37	CCDS1979.1																																																																																			A|0.547;G|0.453	0.453	strong		0.468	VAMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252498.3	NM_003761		G	85808737	A	G	85808737	2	3	22	1	0	0	0	0	0	0	0	1	17115	233	9	2		2	VAMP8	2	85808737	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2471	85808737	157390636	1449	6557										
VAMP5	10791	hgsc.bcm.edu	37	chr2	85818886	85818886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgccagcagcaggcgaaCgaggtgacggaaattatgcg	16	9	0	1	rs14976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85818886C>T	ENST00000306384.4	+	2	125	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	14	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						AGCAGGCGAACGAGGTGACGG	0.607													C|||	963	0.192292	0.152	0.2003	5008	,	,		18936	0.0883		0.2813	False		,,,				2504	0.2566				p.N14N		Atlas-SNP	.											.	VAMP5	13	.	0			c.C42T						PASS	.	C		692,3714	290.7+/-281.1	51,590,1562	132	113	119		42	-3.7	0.5	2	dbSNP_52	119	2410,6190	401.2+/-347.1	335,1740,2225	no	coding-synonymous	VAMP5	NM_006634.2		386,2330,3787	TT,TC,CC		28.0233,15.7059,23.8505		14/117	85818886	3102,9904	2203	4300	6503	SO:0001819	synonymous_variant	10791	exon2			GGCGAACGAGGTG	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.42C>T	2.37:g.85818886C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	248	135	0.544355	NM_006634	Q9P0T2	Silent	SNP	ENST00000306384.4	37	CCDS1980.1																																																																																			C|0.797;T|0.203	0.203	strong		0.607	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		T	85818886	C	T	85818886	2	4	22	1	0	0	0	0	0	0	0	1	17113	535	19	1		1	VAMP5	2	85818886	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10149	85818886	157380487	1450	6558										
RNF181	51255	hgsc.bcm.edu	37	chr2	85824251	85824251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcctgtcccttgtgccgcTatgagctgcccactgatgac	9	14	0	3	rs6643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85824251T>C	ENST00000306368.4	+	4	382	c.352T>C	c.(352-354)Tat>Cat	p.Y118H	RNF181_ENST00000441634.1_Missense_Mutation_p.Y118H	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	118			Y -> H (in dbSNP:rs6643). {ECO:0000269|Ref.3}.		protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						CTTGTGCCGCTATGAGCTGCC	0.512													C|||	1139	0.227436	0.5189	0.0807	5008	,	,		22018	0.2966		0.0358	False		,,,				2504	0.0634				p.Y118H		Atlas-SNP	.											.	RNF181	10	.	0			c.T352C						PASS	.	C	HIS/TYR	1927,2479	625.0+/-394.4	438,1051,714	154	154	154		352	4.3	1	2	dbSNP_52	154	233,8367	809.0+/-407.2	3,227,4070	yes	missense	RNF181	NM_016494.3	83	441,1278,4784	CC,CT,TT		2.7093,43.7358,16.6077	benign	118/154	85824251	2160,10846	2203	4300	6503	SO:0001583	missense	51255	exon4			TGCCGCTATGAGC	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.352T>C	2.37:g.85824251T>C	ENSP00000306906:p.Tyr118His	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_016494	Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	CCDS1981.1	508	0.2326007326007326	268	0.5447154471544715	28	0.07734806629834254	185	0.32342657342657344	27	0.03562005277044855	C	5.720	0.317352	0.10845	0.437358	0.027093	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000456023	T;T	0.67523	-0.24;-0.27	5.39	4.31	0.51392	Zinc finger, RING/FYVE/PHD-type (1);	0.313852	0.33650	N	0.004686	T	0.00012	0.0000	N	0.10945	0.07	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	9	0.06625	T	0.88	.	10.7512	0.46211	0.0:0.8159:0.0:0.1841	rs6643;rs1044643;rs2232749;rs3184444;rs11541121;rs17149265;rs60600233;rs6643	118	Q9P0P0	RN181_HUMAN	H	118;118;114	ENSP00000412025:Y118H;ENSP00000306906:Y118H	ENSP00000306906:Y118H	Y	+	1	0	RNF181	85677762	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	2.607000	0.46300	1.276000	0.44395	-0.215000	0.12644	TAT	T|0.797;C|0.203	0.203	strong		0.512	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		C	85824251	T	C	85824251	3	2	22	1	0	0	0	0	1	0	0	0	13465	1522	53	3	366	3	RNF181	2	85824251	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5365	85824251	157375122	1451	6559										
TMEM150A	129303	hgsc.bcm.edu	37	chr2	85826721	85826721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagccaggtccagcggggcGgtggccccttggtaggagag	18	11	0	1	rs11891495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85826721G>A	ENST00000409668.1	-	6	968	c.501C>T	c.(499-501)acC>acT	p.T167T	TMEM150A_ENST00000334462.5_Silent_p.T167T|TMEM150A_ENST00000306353.3_Silent_p.T114T			Q86TG1	T150A_HUMAN	transmembrane protein 150A	167					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCAGCGGGGCGGTGGCCCCTT	0.617													G|||	880	0.175719	0.1369	0.1801	5008	,	,		20935	0.0823		0.2535	False		,,,				2504	0.2413				p.T167T		Atlas-SNP	.											.	TMEM150A	15	.	0			c.C501T						PASS	.	G		645,3761	274.9+/-272.2	42,561,1600	70	67	68		501	-10.2	0.1	2	dbSNP_120	68	2184,6416	372.2+/-336.6	267,1650,2383	no	coding-synonymous	TMEM150A	NM_001031738.2		309,2211,3983	AA,AG,GG		25.3953,14.6391,21.7515		167/272	85826721	2829,10177	2203	4300	6503	SO:0001819	synonymous_variant	129303	exon7			CGGGGCGGTGGCC	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.501C>T	2.37:g.85826721G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	241	115	0.477178	NM_001031738	A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	CCDS33233.1																																																																																			G|0.810;A|0.190	0.190	strong		0.617	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		A	85826721	G	A	85826721	2	1	22	1	0	0	0	0	0	0	0	1	16064	1103	39	1		1	TMEM150A	2	85826721	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2470	85826721	157372652	1452	6560										
USP39	10713	hgsc.bcm.edu	37	chr2	85852667	85852667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttgctttgcagtatgtGttgaagcccactttcacaaa	7	9	2	1	rs2304564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:85852667G>A	ENST00000323701.6	+	5	586	c.576G>A	c.(574-576)gtG>gtA	p.V192V	USP39_ENST00000409766.3_Silent_p.V192V|USP39_ENST00000409025.1_Silent_p.V192V|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Silent_p.V89V|USP39_ENST00000409470.1_Silent_p.V192V	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	192					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)	p.V192V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGCAGTATGTGTTGAAGCCCA	0.408													G|||	664	0.132588	0.1967	0.049	5008	,	,		21760	0.2847		0.0338	False		,,,				2504	0.0501				p.V192V		Atlas-SNP	.											USP39,NS,carcinoma,0,1	USP39	33	1	1	Substitution - coding silent(1)	stomach(1)	c.G576A						PASS	.	G		737,3669	303.8+/-288.1	49,639,1515	125	114	118		576	-2	1	2	dbSNP_100	118	173,8427	79.5+/-142.1	1,171,4128	no	coding-synonymous	USP39	NM_006590.2		50,810,5643	AA,AG,GG		2.0116,16.7272,6.9968		192/566	85852667	910,12096	2203	4300	6503	SO:0001819	synonymous_variant	10713	exon5			GTATGTGTTGAAG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.576G>A	2.37:g.85852667G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	134	66	0.492537	NM_001256725	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	ENST00000323701.6	37	CCDS33234.1																																																																																			G|0.889;A|0.111	0.111	strong		0.408	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		A	85852667	G	A	85852667	2	1	22	1	0	0	0	0	0	0	0	1	17067	1364	48	2		2	USP39	2	85852667	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25946	85852667	157346706	1453	6561										
ST3GAL5	8869	hgsc.bcm.edu	37	chr2	86088311	86088311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggatatctaacctttacaTggtcagggtccacataatgc	9	9	2	0	rs1138484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86088311T>C	ENST00000377332.3	-	3	419	c.311A>G	c.(310-312)cAt>cGt	p.H104R	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.H76R|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.H104R|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.H81R	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	104			H -> R (in dbSNP:rs3731824). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9822625, ECO:0000269|Ref.2}.		carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AACCTTTACATGGTCAGGGTC	0.338													C|||	1047	0.209065	0.0605	0.1527	5008	,	,		20921	0.2937		0.1968	False		,,,				2504	0.3753				p.H104R		Atlas-SNP	.											.	ST3GAL5	51	.	0			c.A311G						PASS	.	C	ARG/HIS,ARG/HIS	334,4072	795.3+/-415.3	17,300,1886	116	109	111		242,311	5	0.7	2	dbSNP_107	111	1705,6895	737.1+/-407.0	173,1359,2768	yes	missense,missense	ST3GAL5	NM_001042437.1,NM_003896.3	29,29	190,1659,4654	CC,CT,TT		19.8256,7.5806,15.6774	benign,benign	81/396,104/419	86088311	2039,10967	2203	4300	6503	SO:0001583	missense	8869	exon3			TTTACATGGTCAG	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.311A>G	2.37:g.86088311T>C	ENSP00000366549:p.His104Arg	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_003896	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	CCDS1986.2	405	0.18543956043956045	28	0.056910569105691054	73	0.20165745856353592	169	0.29545454545454547	135	0.17810026385224276	C	0.240	-1.014477	0.02095	0.075806	0.198256	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.36878	1.71;1.71;1.72;1.23;1.29	5.84	4.96	0.65561	.	0.494910	0.22557	N	0.058515	T	0.00012	0.0000	N	0.01168	-0.975	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35798	-0.9774	9	0.02654	T	1	-4.2027	9.0708	0.36491	0.0:0.8325:0.0:0.1675	rs3731824;rs52830384;rs60063777;rs3731824	104;104;81	G3V199;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	R	81;76;104;76;104	ENSP00000377397:H81R;ENSP00000377394:H76R;ENSP00000366549:H104R;ENSP00000401375:H76R;ENSP00000433607:H104R	ENSP00000306247:H104R	H	-	2	0	ST3GAL5	85941822	0.674000	0.27549	0.655000	0.29622	0.439000	0.31926	0.845000	0.27668	0.821000	0.34540	-0.119000	0.15052	CAT	T|0.829;C|0.171	0.171	strong		0.338	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		C	86088311	T	C	86088311	3	2	22	1	0	0	0	0	1	0	0	0	15217	1464	51	2	965	2	ST3GAL5	2	86088311	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	235644	86088311	157111062	1454	6562										
POLR1A	25885	hgsc.bcm.edu	37	chr2	86259443	86259443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatcagaggcatcggcgtcCccctcctcagcttcagcatc	9	17	3	1	rs2276626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86259443C>T	ENST00000263857.6	-	29	4602	c.4224G>A	c.(4222-4224)ggG>ggA	p.G1408G	POLR1A_ENST00000409681.1_Silent_p.G1408G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1408					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.G1408G(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATCGGCGTCCCCCTCCTCAG	0.582													C|||	2889	0.576877	0.8283	0.4712	5008	,	,		17574	0.3611		0.5934	False		,,,				2504	0.5174				p.G1408G		Atlas-SNP	.											POLR1A,NS,carcinoma,0,1	POLR1A	137	1	1	Substitution - coding silent(1)	stomach(1)	c.G4224A						PASS	.	C		3443,807		1386,671,68	166	180	175		4224	-0.6	0.9	2	dbSNP_100	175	5431,3037		1742,1947,545	no	coding-synonymous	POLR1A	NM_015425.3		3128,2618,613	TT,TC,CC		35.8644,18.9882,30.2249		1408/1721	86259443	8874,3844	2125	4234	6359	SO:0001819	synonymous_variant	25885	exon29			GGCGTCCCCCTCC	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4224G>A	2.37:g.86259443C>T		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	225	222	0.986667	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	CCDS42706.1																																																																																			T|0.595;C|0.405;A|0.000	0.595	strong		0.582	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		T	86259443	C	T	86259443	2	4	22	1	0	0	0	0	0	0	0	1	12209	610	22	2		2	POLR1A	2	86259443	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171132	86259443	156939930	1455	6563										
POLR1A	25885	hgsc.bcm.edu	37	chr2	86305404	86305404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatagcaatcaaagagtcttTttcctggaagatgaaaccaa	7	7	2	3	rs35239368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86305404T>C	ENST00000263857.6	-	10	1468	c.1090A>G	c.(1090-1092)Aaa>Gaa	p.K364E	POLR1A_ENST00000409681.1_Missense_Mutation_p.K364E			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	364			K -> E (in dbSNP:rs35239368).		gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAAGAGTCTTTTTCCTGGAAG	0.408													T|||	658	0.13139	0.447	0.036	5008	,	,		19186	0.0		0.003	False		,,,				2504	0.0399				p.K364E		Atlas-SNP	.											.	POLR1A	137	.	0			c.A1090G						PASS	.	T	GLU/LYS	1319,2381		256,807,787	94	84	87		1090	1.3	1	2	dbSNP_126	87	12,8170		0,12,4079	yes	missense	POLR1A	NM_015425.3	56	256,819,4866	CC,CT,TT		0.1467,35.6486,11.2018	benign	364/1721	86305404	1331,10551	1850	4091	5941	SO:0001583	missense	25885	exon10			AGTCTTTTTCCTG	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1090A>G	2.37:g.86305404T>C	ENSP00000263857:p.Lys364Glu	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	128	64	0.5	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	212	0.09706959706959707	200	0.4065040650406504	10	0.027624309392265192	0	0.0	2	0.002638522427440633	T	6.764	0.509783	0.12883	0.356486	0.001467	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66280	-0.2;-0.2	5.22	1.33	0.21861	RNA polymerase, N-terminal (1);	1.947470	0.02022	N	0.047881	T	0.00012	0.0000	N	0.02011	-0.69	0.52501	P	4.700000000001925E-5	B;B	0.11235	0.0;0.004	B;B	0.08055	0.001;0.003	T	0.32719	-0.9896	9	0.02654	T	1	-9.8026	6.3055	0.21137	0.1469:0.0:0.4215:0.4317	rs35239368	364;364	B9ZVN9;O95602	.;RPA1_HUMAN	E	364	ENSP00000263857:K364E;ENSP00000386300:K364E	ENSP00000263857:K364E	K	-	1	0	POLR1A	86158915	0.098000	0.21812	0.985000	0.45067	0.766000	0.43426	0.898000	0.28404	0.901000	0.36495	0.459000	0.35465	AAA	T|0.930;C|0.070	0.070	strong		0.408	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		C	86305404	T	C	86305404	3	2	22	1	0	0	0	0	1	0	0	0	12209	1850	64	2	4172	2	POLR1A	2	86305404	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45961	86305404	156893969	1456	6564										
PTCD3	55037	hgsc.bcm.edu	37	chr2	86344237	86344237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaagtttattattaattcAtaccccaaatattttcagaa	3	8	2	1	rs3764948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86344237A>G	ENST00000254630.7	+	6	435	c.369A>G	c.(367-369)tcA>tcG	p.S123S	PTCD3_ENST00000409277.3_Silent_p.S123S|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	123					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTATTAATTCATACCCCAAAT	0.294													a|||	487	0.0972444	0.1331	0.0187	5008	,	,		17141	0.1845		0.0298	False		,,,				2504	0.0838				p.S123S		Atlas-SNP	.											.	PTCD3	51	.	0			c.A369G						PASS	.	G		460,3944	206.5+/-228.1	21,418,1763	54	55	54		369	1.2	0.7	2	dbSNP_107	54	267,8327	102.1+/-163.3	5,257,4035	no	coding-synonymous	PTCD3	NM_017952.5		26,675,5798	GG,GA,AA		3.1068,10.445,5.5932		123/690	86344237	727,12271	2202	4297	6499	SO:0001819	synonymous_variant	55037	exon6			TAATTCATACCCC		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.369A>G	2.37:g.86344237A>G		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	196	97	0.494898	NM_017952	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	CCDS33235.1																																																																																			A|0.939;G|0.061	0.061	strong		0.294	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		G	86344237	A	G	86344237	2	3	22	1	0	0	0	0	0	0	0	1	12729	204	8	2		2	PTCD3	2	86344237	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38833	86344237	156855136	1457	6565										
PTCD3	55037	hgsc.bcm.edu	37	chr2	86358214	86358214	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcagataagttttttcaGtcagccatgagcatagtaag	8	6	3	2	rs146203968		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86358214G>C	ENST00000254630.7	+	16	1317	c.1251G>C	c.(1249-1251)caG>caC	p.Q417H		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	417					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AGTTTTTTCAGTCAGCCATGA	0.318													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16645	0.0		0.0	False		,,,				2504	0.0				p.Q417H		Atlas-SNP	.											.	PTCD3	51	.	0			c.G1251C						PASS	.	G	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	78	78	78		1251	1.9	1	2	dbSNP_134	78	0,8592		0,0,4296	no	missense	PTCD3	NM_017952.5	24	0,1,6498	CC,CG,GG		0.0,0.0227,0.0077	benign	417/690	86358214	1,12997	2203	4296	6499	SO:0001583	missense	55037	exon16			TTTTCAGTCAGCC		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1251G>C	2.37:g.86358214G>C	ENSP00000254630:p.Gln417His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	142	65	0.457746	NM_017952	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227623	0.22542	2.27E-4	0.0	ENSG00000132300	ENST00000254630	T	0.31769	1.48	6.16	1.9	0.25705	.	0.469117	0.24400	N	0.038860	T	0.22704	0.0548	L	0.44542	1.39	0.58432	D	0.999994	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.06481	-1.0824	10	0.56958	D	0.05	-1.4753	5.8329	0.18590	0.2275:0.0:0.6349:0.1376	.	8;417	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	H	417	ENSP00000254630:Q417H	ENSP00000254630:Q417H	Q	+	3	2	PTCD3	86211725	0.976000	0.34144	0.999000	0.59377	0.903000	0.53119	0.568000	0.23623	0.488000	0.27723	-0.158000	0.13435	CAG	G|1.000;C|0.000	0.000	weak		0.318	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		C	86358214	G	C	86358214	3	2	22	1	0	0	0	0	1	0	0	0	12729	1020	36	4	1313	4	PTCD3	2	86358214	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13977	86358214	156841159	1458	6566										
IMMT	10989	hgsc.bcm.edu	37	chr2	86385812	86385812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagctcatgatactgagaTacaaccttagcctcagactg	7	12	2	3	rs2228352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86385812T>C	ENST00000410111.3	-	10	1452	c.1065A>G	c.(1063-1065)gtA>gtG	p.V355V	Y_RNA_ENST00000363371.1_RNA|IMMT_ENST00000254636.5_Silent_p.V256V|IMMT_ENST00000449247.2_Silent_p.V344V|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Silent_p.V308V|IMMT_ENST00000442664.2_Silent_p.V354V	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	355					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATACTGAGATACAACCTTAG	0.433													T|||	224	0.0447284	0.1331	0.0115	5008	,	,		20269	0.0		0.001	False		,,,				2504	0.0399				p.V355V		Atlas-SNP	.											.	IMMT	65	.	0			c.A1065G						PASS	.	T	,,	366,3392		15,336,1528	60	55	56		1062,1032,1065	-7.7	0.7	2	dbSNP_98	56	3,8249		0,3,4123	no	coding-synonymous,coding-synonymous,coding-synonymous	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	,,	15,339,5651	CC,CT,TT		0.0364,9.7392,3.0724	,,	354/758,344/748,355/759	86385812	369,11641	1879	4126	6005	SO:0001819	synonymous_variant	10989	exon10			CTGAGATACAACC	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1065A>G	2.37:g.86385812T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	117	50	0.42735	NM_006839	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	56	0.02564102564102564	51	0.10365853658536585	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	T	9.781	1.175415	0.21704	0.097392	3.64E-4	ENSG00000132305	ENST00000419070	.	.	.	5.76	-7.73	0.01245	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49011	-0.8983	4	.	.	.	-18.6743	10.0221	0.42048	0.0:0.2774:0.1707:0.5519	rs2228352;rs2228352	.	.	.	V	210	.	.	I	-	1	0	IMMT	86239323	0.003000	0.15002	0.651000	0.29564	0.993000	0.82548	-1.546000	0.02188	-1.085000	0.03088	-0.256000	0.11100	ATC	T|0.968;C|0.032	0.032	strong		0.433	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		C	86385812	T	C	86385812	2	2	22	1	0	0	0	0	0	0	0	1	7718	1393	49	2		2	IMMT	2	86385812	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27598	86385812	156813561	1459	6567										
KDM3A	55818	hgsc.bcm.edu	37	chr2	86709704	86709704	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaccatcaagcccagcattCtgggctttgacactcctcac	6	15	3	1	rs34673273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:86709704C>T	ENST00000409556.1	+	19	3174	c.2809C>T	c.(2809-2811)Ctg>Ttg	p.L937L	KDM3A_ENST00000409064.1_Silent_p.L937L|KDM3A_ENST00000312912.5_Silent_p.L937L|KDM3A_ENST00000542128.1_Silent_p.L885L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	937					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						gcccagcattctgggctttga	0.443													C|||	122	0.024361	0.09	0.0043	5008	,	,		19735	0.0		0.0	False		,,,				2504	0.0				p.L937L	NSCLC(96;1150 1523 6936 46253 49736)	Atlas-SNP	.											.	KDM3A	179	.	0			c.C2809T						PASS	.	C	,	377,4029	193.3+/-218.5	18,341,1844	126	119	121		2809,2809	3.7	1	2	dbSNP_126	121	1,8599	3.0+/-9.4	0,1,4299	no	coding-synonymous,coding-synonymous	KDM3A	NM_001146688.1,NM_018433.5	,	18,342,6143	TT,TC,CC		0.0116,8.5565,2.9064	,	937/1322,937/1322	86709704	378,12628	2203	4300	6503	SO:0001819	synonymous_variant	55818	exon18			AGCATTCTGGGCT	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2809C>T	2.37:g.86709704C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	185	96	0.518919	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																			C|0.969;T|0.031	0.031	strong		0.443	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		T	86709704	C	T	86709704	2	4	22	1	0	0	0	0	0	0	0	1	8126	912	32	2		2	KDM3A	2	86709704	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	323892	86709704	156489669	1460	6568										
CD8B	926	hgsc.bcm.edu	37	chr2	87073817	87073817	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaactcacagcacaggtgGatggccactcccagggaaac	11	13	1	0	rs1126874		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:87073817G>C	ENST00000390655.6	-	4	631	c.573C>G	c.(571-573)atC>atG	p.I191M	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I191M|CD8B_ENST00000393759.2_Missense_Mutation_p.I191M|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	191					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.I191M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AGCACAGGTGGATGGCCACTC	0.552																																					p.I191M		Atlas-SNP	.											CD8B_ENST00000393759,NS,carcinoma,0,2	CD8B	37	2	2	Substitution - Missense(2)	kidney(2)	c.C573G						scavenged	.																																			SO:0001583	missense	926	exon4			CAGGTGGATGGCC		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.573C>G	2.37:g.87073817G>C	ENSP00000375070:p.Ile191Met	Somatic	402	0	0		WXS	Illumina HiSeq	Phase_I	413	29	0.0702179	NM_004931	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639958	0.29157	.	.	ENSG00000172116	ENST00000393759;ENST00000331469;ENST00000390655;ENST00000445248	.	.	.	4.91	0.92	0.19397	.	0.581228	0.17685	N	0.165462	T	0.30386	0.0763	.	.	.	0.09310	N	0.999999	B;B;B;B	0.33807	0.3;0.3;0.426;0.426	B;B;B;B	0.35278	0.098;0.098;0.199;0.199	T	0.17745	-1.0359	8	0.59425	D	0.04	-3.6541	5.5609	0.17144	0.1776:0.2773:0.545:0.0	.	191;191;191;191	Q53QL8;P10966;P10966-2;P10966-6	.;CD8B_HUMAN;.;.	M	191	.	ENSP00000331172:I191M	I	-	3	3	CD8B	86927328	0.916000	0.31088	0.002000	0.10522	0.678000	0.39670	0.548000	0.23314	0.063000	0.16370	0.655000	0.94253	ATC	.	.	weak		0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		C	87073817	G	C	87073817	3	2	22	1	0	0	0	0	1	0	0	0	3045	1164	41	4	345	4	CD8B	2	87073817	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	364113	87073817	156125556	1461	6569										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88396120	88396120	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccctgcttcagaattgaGctccgggccctaggcaagat					rs2919882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88396120G>A	ENST00000419482.2	+	6	790	c.705G>A	c.(703-705)gaG>gaA	p.E235E	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.E222E	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	235	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCAGAATTGAGCTCCGGGCCC	0.507													G|||	1572	0.313898	0.4244	0.2579	5008	,	,		20526	0.1627		0.3559	False		,,,				2504	0.317				p.E235E		Atlas-SNP	.											.	SMYD1	95	.	0			c.G705A						PASS	.	G		1785,2621	525.7+/-371.7	357,1071,775	97	96	96		705	1.7	1	2	dbSNP_101	96	3132,5468	473.3+/-368.6	569,1994,1737	no	coding-synonymous	SMYD1	NM_198274.3		926,3065,2512	AA,AG,GG		36.4186,40.5129,37.8056		235/491	88396120	4917,8089	2203	4300	6503	SO:0001819	synonymous_variant	150572	exon6			AATTGAGCTCCGG	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.705G>A	2.37:g.88396120G>A		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	156	156	1	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			G|0.647;A|0.353	0.353	strong		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		A	88396120	G	A	88396120	2	1	22	1	0	0	0	0	0	0	0	1	14821	962	34	2		2	SMYD1	2	88396120	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1322303	88396120	154803253	1462	6570	136	2								
SMYD1	150572	hgsc.bcm.edu	37	chr2	88396123	88396123	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgcttcagaattgagctCcgggccctaggcaagatctc					rs2970912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88396123C>G	ENST00000419482.2	+	6	793	c.708C>G	c.(706-708)ctC>ctG	p.L236L	SMYD1_ENST00000444564.2_Silent_p.L223L|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	236	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAATTGAGCTCCGGGCCCTAG	0.507													C|||	1572	0.313898	0.4244	0.2579	5008	,	,		20727	0.1627		0.3559	False		,,,				2504	0.317				p.L236L		Atlas-SNP	.											.	SMYD1	95	.	0			c.C708G						PASS	.	C		1785,2621	526.0+/-371.8	357,1071,775	97	96	96		708	1.3	1	2	dbSNP_101	96	3134,5466	473.7+/-368.7	570,1994,1736	no	coding-synonymous	SMYD1	NM_198274.3		927,3065,2511	GG,GC,CC		36.4419,40.5129,37.821		236/491	88396123	4919,8087	2203	4300	6503	SO:0001819	synonymous_variant	150572	exon6			TGAGCTCCGGGCC	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.708C>G	2.37:g.88396123C>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	156	154	0.987179	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			C|0.650;G|0.350	0.350	strong		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		G	88396123	C	G	88396123	2	3	22	1	0	0	0	0	0	0	0	1	14821	842	30	4		4	SMYD1	2	88396123	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	88396123	154803250	1463	6571	136	2								
SMYD1	150572	hgsc.bcm.edu	37	chr2	88396174	88396174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgactgtgtcctatatTgacttcctcaacgttagtga	9	9	1	3	rs2919881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88396174T>C	ENST00000419482.2	+	6	844	c.759T>C	c.(757-759)atT>atC	p.I253I	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.I240I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	253	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGTCCTATATTGACTTCCTCA	0.483													C|||	1572	0.313898	0.4244	0.2579	5008	,	,		22653	0.1627		0.3559	False		,,,				2504	0.317				p.I253I		Atlas-SNP	.											.	SMYD1	95	.	0			c.T759C						PASS	.	C		1789,2617	641.1+/-397.4	357,1075,771	111	105	107		759	-3.6	0.9	2	dbSNP_101	107	3139,5461	656.5+/-401.4	570,1999,1731	no	coding-synonymous	SMYD1	NM_198274.3		927,3074,2502	CC,CT,TT		36.5,40.6037,37.8902		253/491	88396174	4928,8078	2203	4300	6503	SO:0001819	synonymous_variant	150572	exon6			CTATATTGACTTC	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.759T>C	2.37:g.88396174T>C		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	158	158	1	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			T|0.654;C|0.346	0.346	strong		0.483	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88396174	T	C	88396174	2	2	22	1	0	0	0	0	0	0	0	1	14821	1800	63	2		2	SMYD1	2	88396174	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51	88396174	154803199	1464	6572										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88396213	88396213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaacgcaagaggcagctGaagaagcagtactactttga	12	7	0	5	rs13403507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88396213G>A	ENST00000419482.2	+	6	883	c.798G>A	c.(796-798)ctG>ctA	p.L266L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L253L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	266					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGAGGCAGCTGAAGAAGCAGT	0.493													G|||	44	0.00878594	0.0333	0.0	5008	,	,		22022	0.0		0.0	False		,,,				2504	0.0				p.L266L		Atlas-SNP	.											.	SMYD1	95	.	0			c.G798A						PASS	.	G		105,4301	84.4+/-122.9	0,105,2098	106	98	101		798	-0.6	1	2	dbSNP_121	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMYD1	NM_198274.3		0,106,6397	AA,AG,GG		0.0116,2.3831,0.815		266/491	88396213	106,12900	2203	4300	6503	SO:0001819	synonymous_variant	150572	exon6			GCAGCTGAAGAAG	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.798G>A	2.37:g.88396213G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			G|0.992;A|0.008	0.008	strong		0.493	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		A	88396213	G	A	88396213	2	1	22	1	0	0	0	0	0	0	0	1	14821	1277	45	2		2	SMYD1	2	88396213	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39	88396213	154803160	1465	6573										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88407959	88407959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagggctgaccaactggcaTgctggtaacattgaggtggg	16	8	0	2	rs2970918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88407959T>C	ENST00000419482.2	+	9	1300	c.1215T>C	c.(1213-1215)caT>caC	p.H405H	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.H392H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	405					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCAACTGGCATGCTGGTAACA	0.552													t|||	1995	0.398363	0.525	0.1441	5008	,	,		18792	0.5278		0.1819	False		,,,				2504	0.4969				p.H405H		Atlas-SNP	.											.	SMYD1	95	.	0			c.T1215C						PASS	.			2016,2390	563.2+/-381.1	455,1106,642	144	108	120		1215	-7.4	0.8	2	dbSNP_101	120	1593,7007	295.8+/-302.6	148,1297,2855	no	coding-synonymous	SMYD1	NM_198274.3		603,2403,3497	CC,CT,TT		18.5233,45.7558,27.7487		405/491	88407959	3609,9397	2203	4300	6503	SO:0001819	synonymous_variant	150572	exon9			CTGGCATGCTGGT	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1215T>C	2.37:g.88407959T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			T|0.711;G|0.000;C|0.288;A|0.000	0.288	strong		0.552	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88407959	T	C	88407959	2	2	22	1	0	0	0	0	0	0	0	1	14821	1461	51	2		2	SMYD1	2	88407959	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11746	88407959	154791414	1466	6574										
THNSL2	55258	hgsc.bcm.edu	37	chr2	88478341	88478341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcgatgagccgatcaagaCtgtgtttgccgatgtggctt	13	9	1	2	rs34136143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:88478341C>A	ENST00000324166.5	+	4	2302	c.611C>A	c.(610-612)aCt>aAt	p.T204N	THNSL2_ENST00000358591.2_Missense_Mutation_p.T204N|THNSL2_ENST00000343544.4_Missense_Mutation_p.T204N|THNSL2_ENST00000402102.1_Missense_Mutation_p.T204N|THNSL2_ENST00000449349.1_Missense_Mutation_p.T172N|THNSL2_ENST00000377254.3_Missense_Mutation_p.T204N|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	204			T -> N (in dbSNP:rs34136143).		2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CCGATCAAGACTGTGTTTGCC	0.552													C|||	221	0.0441294	0.0779	0.0144	5008	,	,		18531	0.005		0.0109	False		,,,				2504	0.0941				p.T204N		Atlas-SNP	.											.	THNSL2	66	.	0			c.C611A						PASS	.	C	ASN/THR	309,4097	166.2+/-197.5	9,291,1903	194	174	180		611	4.1	1	2	dbSNP_126	180	82,8518	48.9+/-108.6	0,82,4218	yes	missense	THNSL2	NM_018271.4	65	9,373,6121	AA,AC,CC		0.9535,7.0132,3.0063	benign	204/485	88478341	391,12615	2203	4300	6503	SO:0001583	missense	55258	exon4			TCAAGACTGTGTT		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.611C>A	2.37:g.88478341C>A	ENSP00000327323:p.Thr204Asn	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	204	204	1	NM_018271	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	CCDS2002.2	54	0.024725274725274724	38	0.07723577235772358	7	0.019337016574585635	0	0.0	9	0.011873350923482849	C	9.986	1.229403	0.22542	0.070132	0.009535	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000449349;ENST00000544063;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.08	4.07	0.47477	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.601847	0.16677	N	0.204129	T	0.00300	0.0009	N	0.03016	-0.435	0.22880	N	0.998614	B;B;B;B	0.11235	0.001;0.0;0.004;0.001	B;B;B;B	0.09377	0.003;0.001;0.001;0.004	T	0.32161	-0.9917	10	0.59425	D	0.04	.	10.4043	0.44248	0.3747:0.6253:0.0:0.0	rs34136143	46;204;172;204	A8K0C1;Q86YJ6;C9JU10;Q86YJ6-2	.;THNS2_HUMAN;.;.	N	204;204;204;172;46;204;204	ENSP00000351402:T204N;ENSP00000366464:T204N;ENSP00000384475:T204N;ENSP00000407553:T172N;ENSP00000339563:T204N;ENSP00000327323:T204N	ENSP00000327323:T204N	T	+	2	0	THNSL2	88259456	0.998000	0.40836	0.951000	0.38953	0.214000	0.24535	4.088000	0.57678	2.553000	0.86117	0.561000	0.74099	ACT	C|0.974;A|0.026	0.026	strong		0.552	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		A	88478341	C	A	88478341	3	1	22	1	0	0	0	0	1	0	0	0	15860	565	20	4	625	4	THNSL2	2	88478341	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70382	88478341	154721032	1467	6575										
TEKT4	150483	hgsc.bcm.edu	37	chr2	95537501	95537501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaggccttcgccgaccgCgaccagtcggagcggcagcg	14	17	0	0	rs11889464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:95537501C>T	ENST00000295201.4	+	1	314	c.177C>T	c.(175-177)cgC>cgT	p.R59R	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.R59R	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	59					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCGCCGACCGCGACCAGTCGG	0.692													.|||	485	0.096845	0.2927	0.0432	5008	,	,		16314	0.0228		0.0308	False		,,,				2504	0.0143				p.R59R		Atlas-SNP	.											.	TEKT4	72	.	0			c.C177T						PASS	.	C		1106,3222		135,836,1193	25	30	29		177	1	1	2	dbSNP_120	29	250,8154		3,244,3955	no	coding-synonymous	TEKT4	NM_144705.2		138,1080,5148	TT,TC,CC		2.9748,25.5545,10.6503		59/436	95537501	1356,11376	2164	4202	6366	SO:0001819	synonymous_variant	150483	exon1			CGACCGCGACCAG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.177C>T	2.37:g.95537501C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	70	69	0.985714	NM_144705		Silent	SNP	ENST00000295201.4	37	CCDS2005.1																																																																																			C|0.897;T|0.103	0.103	strong		0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95537501	C	T	95537501	2	4	22	1	0	0	0	0	0	0	0	1	15752	755	27	1		1	TEKT4	2	95537501	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7059160	95537501	147661872	1468	6576										
TEKT4	150483	hgsc.bcm.edu	37	chr2	95537572	95537572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggcgctggcgcagcgcaCgcagcaagactccacgcgca	13	17	0	1	rs4854235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:95537572C>T	ENST00000295201.4	+	1	385	c.248C>T	c.(247-249)aCg>aTg	p.T83M	TEKT4_ENST00000427593.2_Missense_Mutation_p.T83M|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	83			T -> M (in dbSNP:rs4854235).		cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGCAGCGCACGCAGCAAGAC	0.701													.|||	1952	0.389776	0.5083	0.4063	5008	,	,		16701	0.4831		0.2744	False		,,,				2504	0.2403				p.T83M		Atlas-SNP	.											.	TEKT4	72	.	0			c.C248T						PASS	.	C	MET/THR	2061,2321		492,1077,622	16	17	16		248	2	0.7	2	dbSNP_111	16	2526,6032		388,1750,2141	yes	missense	TEKT4	NM_144705.2	81	880,2827,2763	TT,TC,CC		29.5162,47.0333,35.4482	possibly-damaging	83/436	95537572	4587,8353	2191	4279	6470	SO:0001583	missense	150483	exon1			AGCGCACGCAGCA	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.248C>T	2.37:g.95537572C>T	ENSP00000295201:p.Thr83Met	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	39	39	1	NM_144705		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	830	0.38003663003663	243	0.49390243902439024	133	0.3674033149171271	263	0.4597902097902098	191	0.2519788918205805	.	12.95	2.091221	0.36855	0.470333	0.295162	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02709	4.19;4.19	1.97	1.97	0.26223	.	0.240312	0.41396	D	0.000888	T	0.00012	0.0000	L	0.56769	1.78	0.27389	P	0.955185	D	0.55800	0.973	P	0.47251	0.542	T	0.45396	-0.9264	9	0.44086	T	0.13	-15.3745	9.5816	0.39490	0.0:1.0:0.0:0.0	rs4854235;rs56557828;rs4854235	83	Q8WW24	TEKT4_HUMAN	M	83	ENSP00000295201:T83M;ENSP00000407596:T83M	ENSP00000295201:T83M	T	+	2	0	TEKT4	94901299	0.774000	0.28592	0.671000	0.29857	0.454000	0.32378	3.622000	0.54217	1.094000	0.41399	0.558000	0.71614	ACG	C|0.646;T|0.354	0.354	strong		0.701	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95537572	C	T	95537572	3	4	22	1	0	0	0	0	1	0	0	0	15752	536	19	1	250	1	TEKT4	2	95537572	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71	95537572	147661801	1469	6577										
TEKT4	150483	hgsc.bcm.edu	37	chr2	95537622	95537622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgactgcaggacacgcacAgctggaagtcggagctgcag	15	11	0	0	rs11164112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:95537622A>G	ENST00000295201.4	+	1	435	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	TEKT4_ENST00000427593.2_Missense_Mutation_p.S100G|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	100			S -> G (in dbSNP:rs11164112).		cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACACGCACAGCTGGAAGTC	0.687													.|||	2141	0.427516	0.5166	0.4467	5008	,	,		17318	0.4881		0.3419	False		,,,				2504	0.319				p.S100G		Atlas-SNP	.											.	TEKT4	72	.	0			c.A298G						PASS	.	G	GLY/SER	2150,2232		542,1066,583	15	14	15		298	-0.6	0.3	2	dbSNP_120	15	3138,5444		576,1986,1729	no	missense	TEKT4	NM_144705.2	56	1118,3052,2312	GG,GA,AA		36.5649,49.0644,40.7899	benign	100/436	95537622	5288,7676	2191	4291	6482	SO:0001583	missense	150483	exon1			ACGCACAGCTGGA	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.298A>G	2.37:g.95537622A>G	ENSP00000295201:p.Ser100Gly	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_144705		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	891	0.40796703296703296	246	0.5	139	0.3839779005524862	261	0.4562937062937063	245	0.3232189973614776	.	0.056	-1.235674	0.01505	0.490644	0.365649	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02579	4.24;4.24	1.97	-0.615	0.11587	.	0.633849	0.15549	N	0.256532	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	9	0.27082	T	0.32	-5.0599	3.6684	0.08265	0.1555:0.0:0.2897:0.5547	rs11164112	100	Q8WW24	TEKT4_HUMAN	G	100	ENSP00000295201:S100G;ENSP00000407596:S100G	ENSP00000295201:S100G	S	+	1	0	TEKT4	94901349	0.608000	0.26966	0.328000	0.25416	0.040000	0.13550	0.388000	0.20735	-0.228000	0.09869	-1.144000	0.01866	AGC	A|0.602;G|0.398	0.398	strong		0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		G	95537622	A	G	95537622	3	3	22	1	0	0	0	0	1	0	0	0	15752	188	7	3	300	3	TEKT4	2	95537622	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50	95537622	147661751	1470	6578										
TEKT4	150483	hgsc.bcm.edu	37	chr2	95542476	95542476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgcatggcccatcgtactCgctaccccaccatcctgcag	8	17	0	0	rs1052809		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:95542476C>T	ENST00000295201.4	+	6	1407	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	424					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCATCGTACTCGCTACCCCAC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19845	0.0		0.0	False		,,,				2504	0.001				p.R424C		Atlas-SNP	.											TEKT4,NS,carcinoma,0,1	TEKT4	72	1	0			c.C1270T						scavenged	.						77	53	61					2																	95542476		2203	4300	6503	SO:0001583	missense	150483	exon6			CGTACTCGCTACC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1270C>T	2.37:g.95542476C>T	ENSP00000295201:p.Arg424Cys	Somatic	59	2	0.0338983		WXS	Illumina HiSeq	Phase_I	59	9	0.152542	NM_144705		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.033512	0.35893	.	.	ENSG00000163060	ENST00000295201	T	0.02916	4.11	2.43	2.43	0.29744	.	0.261531	0.37623	N	0.002019	T	0.03651	0.0104	L	0.60455	1.87	0.80722	D	1	P	0.36874	0.572	B	0.32583	0.148	T	0.50792	-0.8786	10	0.44086	T	0.13	-7.0137	10.5484	0.45072	0.0:1.0:0.0:0.0	rs1052809;rs3193279	424	Q8WW24	TEKT4_HUMAN	C	424	ENSP00000295201:R424C	ENSP00000295201:R424C	R	+	1	0	TEKT4	94906203	0.031000	0.19500	0.725000	0.30721	0.755000	0.42902	0.890000	0.28295	1.049000	0.40321	0.281000	0.19383	CGC	C|0.667;T|0.333	0.333	strong		0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95542476	C	T	95542476	3	4	22	1	0	0	0	0	1	0	0	0	15752	884	31	1	1292	1	TEKT4	2	95542476	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4854	95542476	147656897	1471	6579										
STARD7	56910	hgsc.bcm.edu	37	chr2	96859034	96859034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactaaccacatccctctcAatcacctccagcttgattac	2	18	2	1	rs997547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:96859034A>G	ENST00000337288.5	-	4	989	c.606T>C	c.(604-606)atT>atC	p.I202I	STARD7_ENST00000462501.1_Intron	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	202	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.I127I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CATCCCTCTCAATCACCTCCA	0.423													a|||	536	0.107029	0.0189	0.0793	5008	,	,		18024	0.0863		0.1511	False		,,,				2504	0.2219				p.I202I		Atlas-SNP	.											STARD7,NS,carcinoma,0,1	STARD7	49	1	1	Substitution - coding silent(1)	stomach(1)	c.T606C						PASS	.	A		174,4232	114.2+/-152.2	3,168,2032	146	136	139		606	-3	1	2	dbSNP_86	139	1247,7353	250.4+/-277.3	95,1057,3148	no	coding-synonymous	STARD7	NM_020151.3		98,1225,5180	GG,GA,AA		14.5,3.9492,10.9257		202/371	96859034	1421,11585	2203	4300	6503	SO:0001819	synonymous_variant	56910	exon4			CCTCTCAATCACC	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.606T>C	2.37:g.96859034A>G		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	224	98	0.4375	NM_020151	D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	CCDS2017.2																																																																																			A|0.904;G|0.096	0.096	strong		0.423	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			G	96859034	A	G	96859034	2	3	22	1	0	0	0	0	0	0	0	1	15261	126	5	2		2	STARD7	2	96859034	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1316558	96859034	146340339	1472	6580										
STARD7	56910	hgsc.bcm.edu	37	chr2	96861159	96861159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatccatcaccatttcccaaCgttgctctttgccctctgaa	4	15	3	1	rs2276650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:96861159C>G	ENST00000337288.5	-	2	802	c.419G>C	c.(418-420)cGt>cCt	p.R140P	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	140	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.		R -> P (in dbSNP:rs2276650). {ECO:0000269|PubMed:15489334}.			mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.R65P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CATTTCCCAACGTTGCTCTTT	0.498													N|||	660	0.131789	0.0454	0.134	5008	,	,		19125	0.124		0.17	False		,,,				2504	0.2157				p.R140P		Atlas-SNP	.											STARD7,NS,carcinoma,0,1	STARD7	49	1	1	Substitution - Missense(1)	stomach(1)	c.G419C						PASS	.	G	PRO/ARG	294,4112	797.8+/-415.4	10,274,1919	151	116	128		419	4.7	0	2	dbSNP_100	128	1418,7182	746.9+/-407.3	122,1174,3004	yes	missense	STARD7	NM_020151.3	103	132,1448,4923	GG,GC,CC		16.4884,6.6727,13.1632	benign	140/371	96861159	1712,11294	2203	4300	6503	SO:0001583	missense	56910	exon2			TCCCAACGTTGCT	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.419G>C	2.37:g.96861159C>G	ENSP00000338030:p.Arg140Pro	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	221	84	0.380091	NM_020151	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	266	0.12179487179487179	21	0.042682926829268296	46	0.1270718232044199	66	0.11538461538461539	133	0.17546174142480211	G	0.772	-0.765499	0.02996	0.066727	0.164884	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.03094	4.05;4.05	5.62	4.73	0.59995	Lipid-binding START (3);START-like domain (1);	0.264075	0.36972	N	0.002307	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.17832	T	0.49	-4.41	9.4979	0.38999	0.0:0.2954:0.5518:0.1529	rs2276650;rs17419527;rs17845138;rs17856446;rs17857941;rs17858069;rs52838299;rs2276650	140	Q9NQZ5	STAR7_HUMAN	P	140;39	ENSP00000338030:R140P;ENSP00000409410:R39P	ENSP00000338030:R140P	R	-	2	0	STARD7	96224886	0.927000	0.31430	0.014000	0.15608	0.676000	0.39594	2.586000	0.46119	0.708000	0.31955	-0.120000	0.15030	CGT	C|0.878;G|0.122	0.122	strong		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			G	96861159	C	G	96861159	3	3	22	1	0	0	0	0	1	0	0	0	15261	536	19	4	721	4	STARD7	2	96861159	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2125	96861159	146338214	1473	6581										
TMEM127	55654	hgsc.bcm.edu	37	chr2	96919642	96919642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctgagagcagctccagCgcctgctcctcttcctctgt	8	16	3	1	rs3852673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:96919642C>T	ENST00000258439.3	-	4	877	c.621G>A	c.(619-621)gcG>gcA	p.A207A	TMEM127_ENST00000432959.1_Silent_p.A207A|TMEM127_ENST00000435268.1_Silent_p.A123A	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	207					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A207A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GCAGCTCCAGCGCCTGCTCCT	0.607													C|||	698	0.139377	0.0469	0.1398	5008	,	,		18524	0.0873		0.1779	False		,,,				2504	0.2781				p.A207A		Atlas-SNP	.											TMEM127,NS,carcinoma,-1,2	TMEM127	13	2	1	Substitution - coding silent(1)	stomach(1)	c.G621A						PASS	.	C	,	304,4102	163.6+/-195.4	12,280,1911	72	69	70		621,621	-11.6	0.4	2	dbSNP_108	70	1500,7100	285.0+/-296.9	136,1228,2936	no	coding-synonymous,coding-synonymous	TMEM127	NM_001193304.2,NM_017849.3	,	148,1508,4847	TT,TC,CC		17.4419,6.8997,13.8705	,	207/239,207/239	96919642	1804,11202	2203	4300	6503	SO:0001819	synonymous_variant	55654	exon4			CTCCAGCGCCTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.621G>A	2.37:g.96919642C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	166	86	0.518072	NM_001193304	D3DXH0	Silent	SNP	ENST00000258439.3	37	CCDS2018.1																																																																																			C|0.874;T|0.126	0.126	strong		0.607	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		T	96919642	C	T	96919642	2	4	22	1	0	0	0	0	0	0	0	1	16037	755	27	1		1	TMEM127	2	96919642	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58483	96919642	146279731	1474	6582										
FAM178B	51252	hgsc.bcm.edu	37	chr2	97543701	97543701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtccttgagcatggtgcGgtgcatggcctgggggctct	17	10	1	1	rs34013660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:97543701G>A	ENST00000417561.3	-	20	2376	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	FAM178B_ENST00000327896.3_Missense_Mutation_p.R613C|FAM178B_ENST00000490605.2_Missense_Mutation_p.R645C|FAM178B_ENST00000393526.2_Missense_Mutation_p.R85C|FAM178B_ENST00000470789.1_5'UTR			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	793			R -> C (in dbSNP:rs34013660).							large_intestine(1)|ovary(1)	2						AGCATGGTGCGGTGCATGGCC	0.672													G|||	86	0.0171725	0.0635	0.0014	5008	,	,		16465	0.0		0.001	False		,,,				2504	0.0				p.R645C		Atlas-SNP	.											FAM178B_ENST00000417561,colon,carcinoma,+1,2	FAM178B	35	2	0			c.C1933T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	256,4150	147.3+/-181.8	8,240,1955	77	64	68		1933,310,253	2.3	1	2	dbSNP_126	68	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	FAM178B	NM_001122646.2,NM_001172667.1,NM_016490.4	180,180,180	8,242,6253	AA,AG,GG		0.0233,5.8103,1.9837	probably-damaging,probably-damaging,probably-damaging	645/680,104/139,85/120	97543701	258,12748	2203	4300	6503	SO:0001583	missense	51252	exon16			TGGTGCGGTGCAT	AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2377C>T	2.37:g.97543701G>A	ENSP00000413245:p.Arg793Cys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_001122646	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		30	0.013736263736263736	29	0.05894308943089431	0	0.0	0	0.0	1	0.0013192612137203166	G	16.16	3.045853	0.55110	0.058103	2.33E-4	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000393526;ENST00000490605	T;T;T;T	0.60797	0.18;0.2;0.16;0.18	5.2	2.31	0.28768	.	.	.	.	.	T	0.14830	0.0358	M	0.62723	1.935	0.41162	D	0.986107	D	0.71674	0.998	P	0.53861	0.736	T	0.33369	-0.9871	9	0.87932	D	0	-4.1547	4.8677	0.13616	0.1825:0.0:0.636:0.1815	rs34013660	793	Q8IXR5	F178B_HUMAN	C	793;613;85;645	ENSP00000413245:R793C;ENSP00000333553:R613C;ENSP00000377160:R85C;ENSP00000429896:R645C	ENSP00000333553:R613C	R	-	1	0	FAM178B	96907428	0.594000	0.26849	0.988000	0.46212	0.405000	0.30901	0.542000	0.23222	0.161000	0.19458	0.455000	0.32223	CGC	G|0.979;A|0.021	0.021	strong		0.672	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		A	97543701	G	A	97543701	3	1	22	1	0	0	0	0	1	0	0	0	5504	1116	39	1	114	1	FAM178B	2	97543701	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	624059	97543701	145655672	1475	6583										
FAM178B	51252	hgsc.bcm.edu	37	chr2	97559759	97559759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagagatgatggcctcatGaggcccaggagccggctgag	16	10	1	5	rs11677797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:97559759G>A	ENST00000417561.3	-	18	2123	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L	FAM178B_ENST00000327896.3_Silent_p.L528L|FAM178B_ENST00000490605.2_Silent_p.L560L|FAM178B_ENST00000393526.2_5'UTR|FAM178B_ENST00000470789.1_5'UTR			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	708										large_intestine(1)|ovary(1)	2						ATGGCCTCATGAGGCCCAGGA	0.622													.|||	2146	0.428514	0.236	0.4424	5008	,	,		17897	0.6766		0.1491	False		,,,				2504	0.7106				p.L560L		Atlas-SNP	.											.	FAM178B	35	.	0			c.C1680T						PASS	.	G	,,	1122,3282	394.7+/-329.4	151,820,1231	65	59	61		1680,57,	2.6	1	2	dbSNP_120	61	1572,7024	290.9+/-300.1	138,1296,2864	no	coding-synonymous,coding-synonymous,utr-5	FAM178B	NM_001122646.2,NM_001172667.1,NM_016490.4	,,	289,2116,4095	AA,AG,GG		18.2876,25.4768,20.7231	,,	560/680,19/139,	97559759	2694,10306	2202	4298	6500	SO:0001819	synonymous_variant	51252	exon14			CCTCATGAGGCCC	AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2124C>T	2.37:g.97559759G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	78	39	0.5	NM_001122646	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Silent	SNP	ENST00000417561.3	37																																																																																				G|0.745;A|0.255	0.255	strong		0.622	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		A	97559759	G	A	97559759	2	1	22	1	0	0	0	0	0	0	0	1	5504	1277	45	2		2	FAM178B	2	97559759	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16058	97559759	145639614	1476	6584										
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97877478	97877478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacaaatatctgggacaGgtaattttgcaaacacattt	7	6	1	1	rs10194525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:97877478G>A	ENST00000461153.2	+	58	3713	c.3469G>A	c.(3469-3471)Gtg>Atg	p.V1157M	ANKRD36_ENST00000420699.2_Splice_Site_p.V1157M			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1157								p.V1157M(1)|p.V987M(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATCTGGGACAGGTAATTTTGC	0.398																																					p.V1157M		Atlas-SNP	.											ANKRD36_ENST00000420699,NS,carcinoma,0,2	ANKRD36	170	2	2	Substitution - Missense(2)	endometrium(2)	c.G3469A						PASS	.						126	121	123					2																	97877478		692	1591	2283	SO:0001630	splice_region_variant	375248	exon58			GGGACAGGTAATT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3469+1G>A	2.37:g.97877478G>A		Somatic	417	0	0		WXS	Illumina HiSeq	Phase_I	503	172	0.341948	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.775024	0.31411	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.21191	2.02;2.02	1.17	1.17	0.20885	.	.	.	.	.	T	0.21509	0.0518	L	0.39898	1.24	0.20307	N	0.999911	P	0.51240	0.943	P	0.49361	0.608	T	0.11060	-1.0603	9	0.66056	D	0.02	.	5.763	0.18211	0.0:0.0:1.0:0.0	rs10194525;rs58967241	1157	A6QL64	AN36A_HUMAN	M	1157;1157;417	ENSP00000419530:V1157M;ENSP00000391950:V1157M	ENSP00000391950:V1157M	V	+	1	0	ANKRD36	97241205	0.997000	0.39634	0.147000	0.22382	0.056000	0.15407	1.868000	0.39509	0.949000	0.37715	0.436000	0.28706	GTG	G|0.500;A|0.500	0.500	strong		0.398	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Missense_Mutation	A	97877478	G	A	97877478	5	1	22	1	0	0	0	0	0	0	1	0	665	1014	35	2	3699	2	ANKRD36	2	97877478	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	317719	97877478	145321895	1477	6585										
ANKRD36B	0	hgsc.bcm.edu	37	chr2	98129757	98129758	+	IGR	INS	-	-	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcttctgttattcttaacINSttttccctaactttttggtg					rs367988895|rs567331785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98129757_98129758insT								AC159540.1 (38708 upstream) : ANKRD36B (34269 downstream)																							TTATTCTTAACTTTTCCCTAAC	0.337																																					p.K897fs		Atlas-Indel	.											.	.	.	.	0			c.2691_2692insA						PASS	.																																			SO:0001628	intergenic_variant	57730	exon38			.																													2.37:g.98129761_98129761dupT		Somatic	1139	0	0		WXS	Illumina HiSeq	Phase_I	678	61	0.0899705	NM_025190		Frame_Shift_Ins	INS		37																																																																																				.	.	weak	0	0.337									T	98129758	-	T	98129757	6	5	22	0	1	1	1	0	0	0	0	0	666	564	20	0		0	ANKRD36B	2	98129757	IGR	INS	-	TCGA-G8-6324-01A-11D-2210-10	252279	98129757	145069616	1478	6586										
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98165911	98165911	+	RNA	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttctccatccttttttTctctggctatattcaaaaca					rs1839230|rs112877086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98165911T>C	ENST00000443455.1	-	0	1558							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		ATCCTTTTTTTCTCTGGCTAT	0.308													.|||	980	0.195687	0.5703	0.1239	5008	,	,		38822	0.0069		0.1004	False		,,,				2504	0.0327				p.E483G		Atlas-SNP	.											.	.	.	.	0			c.A1448G						PASS	.						45	18	26					2																	98165911		1759	3782	5541			57730	exon20			TTTTTTTCTCTGG	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98165911T>C		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	14	8	0.571429	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																				T|0.848;C|0.152	0.152	strong		0.308	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		C	98165911	T	C	98165911	1	2	22	0	1	0	0	0	0	0	0	0	666	1783	62	2		2	ANKRD36B	2	98165911	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36154	98165911	145033462	1479	6587	137	2								
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98165920	98165920	+	RNA	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctttttttctctggctAtattcaaaacagaatcttcc					rs200418218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98165920A>G	ENST00000443455.1	-	0	1549							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTCTCTGGCTATATTCAAAAC	0.313													.|||	330	0.0658946	0.1808	0.0216	5008	,	,		39278	0.0556		0.0089	False		,,,				2504	0.0112				p.I480T		Atlas-SNP	.											.	.	.	.	0			c.T1439C						PASS	.	G	THR/ILE	466,3072		34,398,1337	51	20	30		1439	-1.1	0	2	dbSNP_134	30	107,7547		0,107,3720	no	missense	ANKRD36B	NM_025190.3	89	34,505,5057	GG,GA,AA		1.398,13.1713,5.1197	probably-damaging	480/1354	98165920	573,10619	1769	3827	5596			57730	exon20			CTGGCTATATTCA	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98165920A>G		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																				A|0.983;G|0.017	0.017	strong		0.313	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		G	98165920	A	G	98165920	1	3	22	0	1	0	0	0	0	0	0	0	666	449	16	2		2	ANKRD36B	2	98165920	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9	98165920	145033453	1480	6588	137	2								
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98197010	98197010	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcttcgactcacagcaaGtaacagtggctgatattcat	7	9	3	1	rs2922614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98197010G>A	ENST00000443455.1	-	0	650							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTCACAGCAAGTAACAGTGGC	0.303													.|||	57	0.0113818	0.0401	0.0043	5008	,	,		20283	0.001		0.0	False		,,,				2504	0.0				p.L158F		Atlas-SNP	.											.	.	.	.	0			c.C472T						PASS	.	G	PHE/LEU	51,1333		1,49,642	161	125	136		472	-0.4	0	2	dbSNP_101	136	0,3182		0,0,1591	no	missense	ANKRD36B	NM_025190.3	22	1,49,2233	AA,AG,GG		0.0,3.685,1.117	benign	158/1354	98197010	51,4515	692	1591	2283			57730	exon4			CAGCAAGTAACAG	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98197010G>A		Somatic	533	0	0		WXS	Illumina HiSeq	Phase_I	517	223	0.431335	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																				G|0.984;A|0.016	0.016	strong		0.303	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		A	98197010	G	A	98197010	1	1	22	0	1	0	0	0	0	0	0	0	666	1029	36	2		2	ANKRD36B	2	98197010	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31090	98197010	145002363	1481	6589										
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98201527	98201527	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatccgtaatatttggatcGgcgccattttgcagcagaag	10	9	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98201527G>A	ENST00000443455.1	-	0	508							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TATTTGGATCGGCGCCATTTT	0.413																																					p.A110A		Atlas-SNP	.											.	.	.	.	0			c.C330T						PASS	.						22	18	19					2																	98201527		692	1578	2270			57730	exon3			TGGATCGGCGCCA	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98201527G>A		Somatic	1252	1	0.000798722		WXS	Illumina HiSeq	Phase_I	1172	406	0.346416	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Silent	SNP	ENST00000443455.1	37																																																																																				.	.	none		0.413	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		A	98201527	G	A	98201527	1	1	22	0	1	0	0	0	0	0	0	0	666	1103	39	1		1	ANKRD36B	2	98201527	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4517	98201527	144997846	1482	6590										
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98206012	98206012	+	RNA	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcctgtctctcttattgGcgtcataatacgtgagcaga					rs185401750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98206012G>A	ENST00000443455.1	-	0	315							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TCTCTTATTGGCGTCATAATA	0.522													.|||	73	0.0145767	0.0469	0.0043	5008	,	,		11591	0.006		0.001	False		,,,				2504	0.001				p.A46V		Atlas-SNP	.											.	.	.	.	0			c.C137T						PASS	.	G	VAL/ALA	41,1343		2,37,653	106	82	89		137	0.8	0	2		89	0,3182		0,0,1591	no	missense	ANKRD36B	NM_025190.3	64	2,37,2244	AA,AG,GG		0.0,2.9624,0.8979	benign	46/1354	98206012	41,4525	692	1591	2283			57730	exon1			TTATTGGCGTCAT	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98206012G>A		Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	259	124	0.478764	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																				G|0.989;A|0.011	0.011	strong		0.522	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		A	98206012	G	A	98206012	1	1	22	0	1	0	0	0	0	0	0	0	666	1203	42	2		2	ANKRD36B	2	98206012	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4485	98206012	144993361	1483	6591	138	2								
ANKRD36B	57730	hgsc.bcm.edu	37	chr2	98206013	98206013	+	RNA	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctgtctctcttattggCgtcataatacgtgagcagaa					rs188661236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98206013C>T	ENST00000443455.1	-	0	314							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTCTTATTGGCGTCATAATAC	0.522													.|||	73	0.0145767	0.0469	0.0043	5008	,	,		11667	0.006		0.001	False		,,,				2504	0.001				p.A46T		Atlas-SNP	.											.	.	.	.	0			c.G136A						PASS	.	C	THR/ALA	41,1343		2,37,653	107	83	90		136	-1.5	0	2		90	0,3182		0,0,1591	no	missense	ANKRD36B	NM_025190.3	58	2,37,2244	TT,TC,CC		0.0,2.9624,0.8979	benign	46/1354	98206013	41,4525	692	1591	2283			57730	exon1			TATTGGCGTCATA	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98206013C>T		Somatic	295	1	0.00338983		WXS	Illumina HiSeq	Phase_I	262	127	0.484733	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																				C|0.989;T|0.011	0.011	strong		0.522	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		T	98206013	C	T	98206013	1	4	22	0	1	0	0	0	0	0	0	0	666	768	27	1		1	ANKRD36B	2	98206013	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	98206013	144993360	1484	6592	138	2								
TMEM131	23505	hgsc.bcm.edu	37	chr2	98611994	98611994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatcaccaggtgcagcgcGcctaggaggccggcggccgc	16	15	2	0	rs2279824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98611994G>T	ENST00000186436.5	-	1	360	c.132C>A	c.(130-132)ggC>ggA	p.G44G	TMEM131_ENST00000425805.2_5'UTR	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	44						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTGCAGCGCGCCTAGGAggc	0.791													T|||	2965	0.592053	0.9138	0.5591	5008	,	,		7336	0.2867		0.7793	False		,,,				2504	0.3027				p.G44G		Atlas-SNP	.											.	TMEM131	258	.	0			c.C132A						PASS	.						1	1	1					2																	98611994		856	2126	2982	SO:0001819	synonymous_variant	23505	exon1			CAGCGCGCCTAGG	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.132C>A	2.37:g.98611994G>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	9	6	0.666667	NM_015348		Silent	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																			G|0.352;T|0.648	0.648	strong		0.791	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		T	98611994	G	T	98611994	2	4	22	1	0	0	0	0	0	0	0	1	16041	1074	38	4		4	TMEM131	2	98611994	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	405981	98611994	144587379	1485	6593										
VWA3B	200403	hgsc.bcm.edu	37	chr2	98709684	98709684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaaatggcttcaactgcaTgggcttaagagcaacaaatt	10	7	1	2	rs298917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98709684T>C	ENST00000477737.1	+	2	333	c.129T>C	c.(127-129)caT>caC	p.H43H	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Silent_p.H43H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	43										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAACTGCATGGGCTTAAGA	0.458													T|||	535	0.106829	0.0877	0.1427	5008	,	,		17580	0.0407		0.1938	False		,,,				2504	0.0859				p.H43H		Atlas-SNP	.											.	VWA3B	138	.	0			c.T129C						PASS	.	T		380,3546		24,332,1607	126	117	120		129	-1.3	0.9	2	dbSNP_79	120	1680,6646		174,1332,2657	no	coding-synonymous	VWA3B	NM_144992.4		198,1664,4264	CC,CT,TT		20.1778,9.6791,16.8136		43/1295	98709684	2060,10192	1963	4163	6126	SO:0001819	synonymous_variant	200403	exon2			ACTGCATGGGCTT	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.129T>C	2.37:g.98709684T>C		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	197	92	0.467005	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	CCDS42718.1																																																																																			T|0.871;C|0.129	0.129	strong		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		C	98709684	T	C	98709684	2	2	22	1	0	0	0	0	0	0	0	1	17238	1461	51	2		2	VWA3B	2	98709684	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	97690	98709684	144489689	1486	6594										
VWA3B	200403	hgsc.bcm.edu	37	chr2	98779418	98779418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccgagcctcccaagcccGacgtggccactgtggactgc	13	16	0	0	rs77092382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:98779418G>A	ENST00000477737.1	+	8	1297	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	VWA3B_ENST00000435344.1_Missense_Mutation_p.D365N|VWA3B_ENST00000451075.2_Missense_Mutation_p.D215N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	365										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCCAAGCCCGACGTGGCCAC	0.567													G|||	132	0.0263578	0.0946	0.0101	5008	,	,		16753	0.0		0.0	False		,,,				2504	0.0				p.D365N		Atlas-SNP	.											.	VWA3B	138	.	0			c.G1093A						PASS	.	G	ASN/ASP	319,3775		17,285,1745	56	64	62		1093	-9.4	0	2	dbSNP_131	62	4,8420		0,4,4208	no	missense	VWA3B	NM_144992.4	23	17,289,5953	AA,AG,GG		0.0475,7.7919,2.5803	benign	365/1295	98779418	323,12195	2047	4212	6259	SO:0001583	missense	200403	exon8			AAGCCCGACGTGG	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1093G>A	2.37:g.98779418G>A	ENSP00000417955:p.Asp365Asn	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	139	60	0.431655	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	35	0.016025641025641024	33	0.06707317073170732	2	0.0055248618784530384	0	0.0	0	0.0	G	10.25	1.297516	0.23650	0.077919	4.75E-4	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.23147	1.92;3.36;2.47	4.68	-9.37	0.00626	.	2.270810	0.02023	N	0.047965	T	0.00496	0.0016	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.11179	-1.0598	10	0.34782	T	0.22	.	4.1345	0.10164	0.5431:0.1901:0.1706:0.0961	.	215;365;365	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	N	365;365;215	ENSP00000401959:D365N;ENSP00000417955:D365N;ENSP00000389463:D215N	ENSP00000411168:D365N	D	+	1	0	VWA3B	98145850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.018000	0.01444	-2.385000	0.00590	-0.781000	0.03364	GAC	G|0.981;A|0.019	0.019	strong		0.567	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		A	98779418	G	A	98779418	3	1	22	1	0	0	0	0	1	0	0	0	17238	1058	37	1	1119	1	VWA3B	2	98779418	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69734	98779418	144419955	1487	6595										
INPP4A	3631	hgsc.bcm.edu	37	chr2	99149946	99149946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacgaagcatgcacagacGgagatcattgaggtgggtgc	16	7	1	3	rs2278211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:99149946G>A	ENST00000523221.1	+	3	258	c.258G>A	c.(256-258)acG>acA	p.T86T	INPP4A_ENST00000409540.3_Silent_p.T86T|INPP4A_ENST00000545415.1_Silent_p.T86T|INPP4A_ENST00000409851.3_Silent_p.T86T|INPP4A_ENST00000074304.5_Silent_p.T86T|INPP4A_ENST00000409016.4_Silent_p.T86T|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	86	C2.				inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ATGCACAGACGGAGATCATTG	0.522													G|||	1154	0.230431	0.0749	0.304	5008	,	,		18892	0.2956		0.2674	False		,,,				2504	0.2832				p.T86T		Atlas-SNP	.											.	INPP4A	205	.	0			c.G258A						PASS	.	G	,,,	479,3711		32,415,1648	112	112	112		258,258,258,258	-2.2	1	2	dbSNP_100	112	2216,6242		296,1624,2309	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	,,,	328,2039,3957	AA,AG,GG		26.2,11.432,21.3077	,,,	86/978,86/973,86/955,86/939	99149946	2695,9953	2095	4229	6324	SO:0001819	synonymous_variant	3631	exon5			ACAGACGGAGATC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.258G>A	2.37:g.99149946G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	96	59	0.614583	NM_004027	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																			G|0.779;N|0.000	.	strong		0.522	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		A	99149946	G	A	99149946	2	1	22	1	0	0	0	0	0	0	0	1	7752	1103	39	1		1	INPP4A	2	99149946	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	370528	99149946	144049427	1488	6596										
INPP4A	3631	hgsc.bcm.edu	37	chr2	99193496	99193496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggttcaccagctgcaagagCgctaaggaccgtacagccat	11	13	1	1	rs2230388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:99193496C>T	ENST00000523221.1	+	23	2691	c.2691C>T	c.(2689-2691)agC>agT	p.S897S	INPP4A_ENST00000409851.3_Silent_p.S892S|INPP4A_ENST00000074304.5_Silent_p.S897S|INPP4A_ENST00000409463.1_Silent_p.S226S|INPP4A_ENST00000409016.4_Silent_p.S858S|INPP4A_ENST00000545415.1_Silent_p.S858S|INPP4A_ENST00000409540.3_Silent_p.S858S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	897					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCTGCAAGAGCGCTAAGGACC	0.612													C|||	1284	0.25639	0.1589	0.2968	5008	,	,		17232	0.2937		0.2714	False		,,,				2504	0.3057				p.S897S		Atlas-SNP	.											.	INPP4A	205	.	0			c.C2691T						PASS	.	C	,,,	704,3520		63,578,1471	62	66	65		2691,2676,2574,2574	-3.1	1	2	dbSNP_98	65	2195,6257		291,1613,2322	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	,,,	354,2191,3793	TT,TC,CC		25.9702,16.6667,22.87	,,,	897/978,892/973,858/955,858/939	99193496	2899,9777	2112	4226	6338	SO:0001819	synonymous_variant	3631	exon25			CAAGAGCGCTAAG	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2691C>T	2.37:g.99193496C>T		Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	251	118	0.47012	NM_001134224	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																			C|0.753;T|0.247	0.247	strong		0.612	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		T	99193496	C	T	99193496	2	4	22	1	0	0	0	0	0	0	0	1	7752	767	27	1		1	INPP4A	2	99193496	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43550	99193496	144005877	1489	6597										
MGAT4A	11320	hgsc.bcm.edu	37	chr2	99256447	99256447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggattttaagaagtaatggTttcatataatctttatcctg	7	4	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:99256447T>A	ENST00000264968.3	-	11	1509	c.1146A>T	c.(1144-1146)aaA>aaT	p.K382N	MGAT4A_ENST00000409391.1_Missense_Mutation_p.K382N|MGAT4A_ENST00000393487.1_Missense_Mutation_p.K382N|MGAT4A_ENST00000414521.2_Missense_Mutation_p.K254N			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	382					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAAGTAATGGTTTCATATAAT	0.343																																					p.K382N		Atlas-SNP	.											.	MGAT4A	51	.	0			c.A1146T						PASS	.						63	67	66					2																	99256447		2203	4300	6503	SO:0001583	missense	11320	exon12			TAATGGTTTCATA	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1146A>T	2.37:g.99256447T>A	ENSP00000264968:p.Lys382Asn	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_012214	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462708	0.63513	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.26957	1.7;1.75;1.7;1.7	5.64	1.45	0.22620	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.85777	2.775	0.54753	D	0.999987	D;D	0.76494	0.988;0.999	P;D	0.78314	0.815;0.991	T	0.50792	-0.8786	10	0.52906	T	0.07	-5.7696	10.1002	0.42499	0.0:0.2309:0.0:0.7691	.	254;382	E9PEN2;Q9UM21	.;MGT4A_HUMAN	N	382;254;382;382	ENSP00000377127:K382N;ENSP00000404889:K254N;ENSP00000264968:K382N;ENSP00000386841:K382N	ENSP00000264968:K382N	K	-	3	2	MGAT4A	98622879	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.644000	0.24766	0.394000	0.25230	0.455000	0.32223	AAA	.	.	none		0.343	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		A	99256447	T	A	99256447	3	1	22	1	0	0	0	0	1	0	0	0	9545	1722	60	5	560	5	MGAT4A	2	99256447	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	62951	99256447	143942926	1490	6598										
C2orf55	343990	hgsc.bcm.edu	37	chr2	99412654	99412654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctttgccccctgcttcCggtccacagcgggcttcaca	10	16	1	1	rs73962467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:99412654C>T	ENST00000397899.2	-	9	3009	c.2678G>A	c.(2677-2679)cGg>cAg	p.R893Q		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	893																	CCCCTGCTTCCGGTCCACAGC	0.507													C|||	33	0.00658946	0.0219	0.0058	5008	,	,		19267	0.0		0.0	False		,,,				2504	0.0				p.R893Q		Atlas-SNP	.											.	.	.	.	0			c.G2678A						PASS	.	C	GLN/ARG	69,3687		3,63,1812	145	141	143		2678	0.3	0.2	2	dbSNP_130	143	1,8221		0,1,4110	yes	missense	C2orf55	NM_207362.2	43	3,64,5922	TT,TC,CC		0.0122,1.8371,0.5844	benign	893/963	99412654	70,11908	1878	4111	5989	SO:0001583	missense	343990	exon9			TGCTTCCGGTCCA	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2678G>A	2.37:g.99412654C>T	ENSP00000380996:p.Arg893Gln	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_207362		Missense_Mutation	SNP	ENST00000397899.2	37	CCDS42720.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	5.887	0.347744	0.11126	0.018371	1.22E-4	ENSG00000196872	ENST00000397899	T	0.39592	1.07	5.17	0.328	0.15918	.	1.201180	0.05934	N	0.635672	T	0.06188	0.0160	N	0.11427	0.14	0.09310	N	1	B	0.19706	0.038	B	0.15870	0.014	T	0.14755	-1.0461	10	0.02654	T	1	-0.9202	3.636	0.08148	0.0:0.3473:0.1965:0.4562	.	893	Q6NV74	CB055_HUMAN	Q	893	ENSP00000380996:R893Q	ENSP00000380996:R893Q	R	-	2	0	C2orf55	98779086	0.996000	0.38824	0.172000	0.22920	0.097000	0.18754	0.215000	0.17562	0.182000	0.20032	0.563000	0.77884	CGG	C|0.991;T|0.009	0.009	strong		0.507	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		T	99412654	C	T	99412654	3	4	22	1	0	0	0	0	1	0	0	0	2176	652	23	1	218	1	C2orf55	2	99412654	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	156207	99412654	143786719	1491	6599										
TSGA10	80705	hgsc.bcm.edu	37	chr2	99722135	99722135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttttcatcatttctcgtCgaagtcgggtaatttcttcc	7	10	4	0	rs146207401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:99722135C>T	ENST00000393483.3	-	8	1080	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	TSGA10_ENST00000355053.4_Missense_Mutation_p.R79Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R79Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R79Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.R79Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	79					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CATTTCTCGTCGAAGTCGGGT	0.368																																					p.R79Q		Atlas-SNP	.											.	TSGA10	81	.	0			c.G236A						PASS	.	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	203	195	198		236,236	5	1	2	dbSNP_134	198	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TSGA10	NM_025244.2,NM_182911.3	43,43	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	79/699,79/699	99722135	4,13002	2203	4300	6503	SO:0001583	missense	80705	exon7			TCTCGTCGAAGTC	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.236G>A	2.37:g.99722135C>T	ENSP00000377123:p.Arg79Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	66	30	0.454545	NM_182911	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031503	0.93575	4.54E-4	2.33E-4	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.99	4.99	0.66335	.	0.158903	0.29853	N	0.011034	T	0.64746	0.2626	L	0.59436	1.845	0.34409	D	0.696207	D;D	0.71674	0.998;0.998	P;P	0.59889	0.865;0.865	T	0.69423	-0.5149	10	0.28530	T	0.3	-6.6381	17.049	0.86513	0.0:1.0:0.0:0.0	.	79;79	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	79	ENSP00000377123:R79Q;ENSP00000386956:R79Q;ENSP00000347161:R79Q;ENSP00000444419:R79Q;ENSP00000386508:R79Q;ENSP00000377122:R79Q;ENSP00000445623:R79Q	ENSP00000347161:R79Q	R	-	2	0	TSGA10	99088567	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.326000	0.59241	2.601000	0.87937	0.650000	0.86243	CGA	C|0.999;T|0.001	0.001	strong		0.368	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		T	99722135	C	T	99722135	3	4	22	1	0	0	0	0	1	0	0	0	16614	884	31	1	1916	1	TSGA10	2	99722135	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	309481	99722135	143477238	1492	6600										
REV1	51455	hgsc.bcm.edu	37	chr2	100055158	100055158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactttgtctttgtagggtaTtgacaaactcagtcaattca	7	7	4	1	rs3087399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:100055158T>C	ENST00000258428.3	-	6	1346	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.N373S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	373			N -> S (in dbSNP:rs3087399).		DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTAGGGTATTGACAAACTC	0.368								Direct reversal of damage					.|||	841	0.167931	0.2859	0.0576	5008	,	,		18937	0.0536		0.1193	False		,,,				2504	0.2546				p.N373S		Atlas-SNP	.											.	REV1	100	.	0			c.A1118G						PASS	.	T	SER/ASN,SER/ASN	1125,3281	399.5+/-331.2	136,853,1214	97	103	101		1118,1118	-0.6	0.8	2	dbSNP_102	101	1028,7572	220.6+/-258.3	59,910,3331	yes	missense,missense	REV1	NM_001037872.1,NM_016316.2	46,46	195,1763,4545	CC,CT,TT		11.9535,25.5334,16.5539	benign,benign	373/1251,373/1252	100055158	2153,10853	2203	4300	6503	SO:0001583	missense	51455	exon6			AGGGTATTGACAA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1118A>G	2.37:g.100055158T>C	ENSP00000258428:p.Asn373Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	121	57	0.471074	NM_001037872	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	290	0.13278388278388278	150	0.3048780487804878	20	0.055248618784530384	16	0.027972027972027972	104	0.13720316622691292	T	9.343	1.063410	0.20067	0.255334	0.119535	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.53423	1.55;1.56;0.62	5.99	-0.648	0.11464	.	0.214602	0.56097	N	0.000031	T	0.00012	0.0000	L	0.49350	1.555	0.22918	P	0.99856913	B;B;B	0.22414	0.069;0.001;0.036	B;B;B	0.28991	0.086;0.008;0.097	T	0.34204	-0.9838	9	0.11485	T	0.65	.	10.7703	0.46319	0.0:0.3803:0.0:0.6197	rs3087399;rs52791165;rs57440453;rs3087399	352;373;373	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	S	373;373;11	ENSP00000377091:N373S;ENSP00000258428:N373S;ENSP00000414875:N11S	ENSP00000258428:N373S	N	-	2	0	REV1	99421590	1.000000	0.71417	0.794000	0.32065	0.977000	0.68977	1.404000	0.34623	-0.321000	0.08627	-0.250000	0.11733	AAT	T|0.866;C|0.134	0.134	strong		0.368	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		C	100055158	T	C	100055158	3	2	22	1	0	0	0	0	1	0	0	0	13239	1493	52	2	2709	2	REV1	2	100055158	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	333023	100055158	143144215	1493	6601										
LONRF2	164832	hgsc.bcm.edu	37	chr2	100911980	100911980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaaatattaattcttcggcCagaacagttatgttaaagtt	7	6	1	1	rs116227203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:100911980C>T	ENST00000393437.3	-	8	2151	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	LONRF2_ENST00000409647.1_Silent_p.L261L	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	504							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATTCTTCGGCCAGAACAGTTA	0.343													C|||	73	0.0145767	0.0522	0.0043	5008	,	,		19323	0.0		0.001	False		,,,				2504	0.0				p.L504L		Atlas-SNP	.											.	LONRF2	62	.	0			c.G1512A						PASS	.	C		200,4206	124.5+/-161.8	1,198,2004	95	93	94		1512	3.3	0.2	2	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	LONRF2	NM_198461.3		1,198,6304	TT,TC,CC		0.0,4.5393,1.5378		504/755	100911980	200,12806	2203	4300	6503	SO:0001819	synonymous_variant	164832	exon8			TTCGGCCAGAACA	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1512G>A	2.37:g.100911980C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	90	41	0.455556	NM_198461	B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	CCDS2046.2																																																																																			C|0.986;T|0.014	0.014	strong		0.343	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		T	100911980	C	T	100911980	2	4	22	1	0	0	0	0	0	0	0	1	8895	581	21	2		2	LONRF2	2	100911980	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	856822	100911980	142287393	1494	6602										
LONRF2	164832	hgsc.bcm.edu	37	chr2	100916306	100916306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgcctttttatcctcttcAaagtgtagacccagtataaa	5	10	2	1	rs2033748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:100916306A>G	ENST00000393437.3	-	5	1779	c.1140T>C	c.(1138-1140)ttT>ttC	p.F380F	LONRF2_ENST00000409647.1_Silent_p.F137F	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	380							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TATCCTCTTCAAAGTGTAGAC	0.418													A|||	3863	0.771366	0.8911	0.7349	5008	,	,		13826	0.9405		0.673	False		,,,				2504	0.5624				p.F380F		Atlas-SNP	.											.	LONRF2	62	.	0			c.T1140C						PASS	.	A		3669,737	757.4+/-412.7	1525,619,59	69	67	68		1140	-4.1	0	2	dbSNP_94	68	5543,3057	662.6+/-402.0	1797,1949,554	no	coding-synonymous	LONRF2	NM_198461.3		3322,2568,613	GG,GA,AA		35.5465,16.7272,29.1712		380/755	100916306	9212,3794	2203	4300	6503	SO:0001819	synonymous_variant	164832	exon5			CTCTTCAAAGTGT	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1140T>C	2.37:g.100916306A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_198461	B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	CCDS2046.2																																																																																			A|0.270;G|0.730	0.730	strong		0.418	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		G	100916306	A	G	100916306	2	3	22	1	0	0	0	0	0	0	0	1	8895	127	5	2		2	LONRF2	2	100916306	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4326	100916306	142283067	1495	6603										
NMS	129521	hgsc.bcm.edu	37	chr2	101096960	101096960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcatttccttgcagggCtcggggactgctgcagtgga	14	11	1	0	rs1519654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:101096960C>T	ENST00000376865.1	+	7	346	c.339C>T	c.(337-339)ggC>ggT	p.G113G		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	113					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTTGCAGGGCTCGGGGACTG	0.542													T|||	4025	0.803714	0.9183	0.6859	5008	,	,		18499	1.0		0.5	False		,,,				2504	0.8425				p.G113G		Atlas-SNP	.											NMS,colon,carcinoma,0,3	NMS	26	3	0			c.C339T						PASS	.	T		3751,655	280.5+/-275.4	1612,527,64	122	115	118		339	-1.5	0	2	dbSNP_88	118	4226,4374	583.1+/-391.5	1049,2128,1123	no	coding-synonymous	NMS	NM_001011717.1		2661,2655,1187	TT,TC,CC		49.1395,14.8661,38.6668		113/154	101096960	7977,5029	2203	4300	6503	SO:0001819	synonymous_variant	129521	exon7			GCAGGGCTCGGGG	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.339C>T	2.37:g.101096960C>T		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	205	98	0.478049	NM_001011717		Silent	SNP	ENST00000376865.1	37	CCDS33259.1																																																																																			C|0.321;T|0.679	0.679	strong		0.542	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		T	101096960	C	T	101096960	2	4	22	1	0	0	0	0	0	0	0	1	10502	784	28	2		2	NMS	2	101096960	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180654	101096960	142102413	1496	6604										
RPL31	6160	hgsc.bcm.edu	37	chr2	101619211	101619211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaaaagggccgttctgcCatcaacgaagtggtaacccg	11	10	2	1	rs141007382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:101619211C>T	ENST00000264258.3	+	2	649	c.48C>T	c.(46-48)gcC>gcT	p.A16A	RPL31_ENST00000409000.1_Silent_p.A16A|RPL31_ENST00000409650.1_Silent_p.A16A|RPL31_ENST00000409038.1_Silent_p.A16A|RPL31_ENST00000409733.1_Silent_p.A16A|RPL31_ENST00000409711.1_Silent_p.A16A|RPL31_ENST00000409320.3_Silent_p.A16A|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409028.4_Silent_p.A16A	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GCCGTTCTGCCATCAACGAAG	0.532													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19707	0.0		0.0	False		,,,				2504	0.0				p.A16A		Atlas-SNP	.											.	RPL31	12	.	0			c.C48T						PASS	.	C	,,	13,4393	19.1+/-41.9	0,13,2190	71	66	68		48,48,48	2.5	1	2	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RPL31	NM_000993.4,NM_001098577.2,NM_001099693.1	,,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,,	16/126,16/129,16/122	101619211	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	6160	exon2			TTCTGCCATCAAC	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.48C>T	2.37:g.101619211C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	219	114	0.520548	NM_001098577	B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Silent	SNP	ENST00000264258.3	37	CCDS2049.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.12	2.141667	0.37825	0.002951	0.0	ENSG00000071082	ENST00000441435	.	.	.	5.38	2.51	0.30379	.	.	.	.	.	T	0.56587	0.1995	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	8.4008	0.32586	0.1258:0.7401:0.0:0.1341	.	.	.	.	L	4	.	.	P	+	2	0	RPL31	100985643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.039000	0.49791	0.839000	0.34971	-0.150000	0.13652	CCA	C|0.999;T|0.001	0.001	strong		0.532	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577		T	101619211	C	T	101619211	2	4	22	1	0	0	0	0	0	0	0	1	13581	581	21	2		2	RPL31	2	101619211	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	522251	101619211	141580162	1497	6605										
IL1R2	7850	hgsc.bcm.edu	37	chr2	102626187	102626187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatgactctgctaggacGgtcccaggagaagaagagac	12	8	1	4	rs2230401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:102626187G>A	ENST00000332549.3	+	3	460	c.231G>A	c.(229-231)acG>acA	p.T77T	IL1R2_ENST00000441002.1_Silent_p.T77T|IL1R2_ENST00000393414.2_Silent_p.T77T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	77	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CTGCTAGGACGGTCCCAGGAG	0.597													G|||	215	0.0429313	0.1551	0.013	5008	,	,		18355	0.0		0.001	False		,,,				2504	0.0				p.T77T	Pancreas(106;189 1628 2302 5133 12295)	Atlas-SNP	.											.	IL1R2	58	.	0			c.G231A						PASS	.	G	,	507,3899	234.6+/-247.4	31,445,1727	157	164	161		231,231	-3.7	0	2	dbSNP_98	161	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	IL1R2	NM_004633.3,NM_173343.1	,	31,457,6015	AA,AG,GG		0.1395,11.507,3.9905	,	77/399,77/399	102626187	519,12487	2203	4300	6503	SO:0001819	synonymous_variant	7850	exon3			TAGGACGGTCCCA	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.231G>A	2.37:g.102626187G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_001261419	D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	CCDS2054.1																																																																																			G|0.958;A|0.042	0.042	strong		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		A	102626187	G	A	102626187	2	1	22	1	0	0	0	0	0	0	0	1	7659	1103	39	1		1	IL1R2	2	102626187	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1006976	102626187	140573186	1498	6606										
IL1R1	3554	hgsc.bcm.edu	37	chr2	102781466	102781466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacattactattgcgtggtAaggtaagagaggaattagta	13	3	0	1	rs144946641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:102781466A>G	ENST00000410023.1	+	4	612	c.294A>G	c.(292-294)gtA>gtG	p.V98V	IL1R1_ENST00000233946.3_Silent_p.V98V|IL1R1_ENST00000409329.1_Silent_p.V98V|IL1R1_ENST00000409929.1_Silent_p.V98V|IL1R1_ENST00000424272.1_Silent_p.V98V|IL1R1_ENST00000409589.1_Silent_p.V98V|IL1R1_ENST00000409288.1_Silent_p.V98V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	98	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.V98V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATTGCGTGGTAAGGTAAGAGA	0.358													A|||	16	0.00319489	0.0121	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0				p.V98V		Atlas-SNP	.											IL1R1,NS,carcinoma,0,1	IL1R1	52	1	1	Substitution - coding silent(1)	lung(1)	c.A294G						PASS	.	A		24,4382	30.8+/-60.4	0,24,2179	99	90	93		294	-5	0.3	2	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	IL1R1	NM_000877.2		0,24,6479	GG,GA,AA		0.0,0.5447,0.1845		98/570	102781466	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3554	exon3			CGTGGTAAGGTAA	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.294A>G	2.37:g.102781466A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_000877	Q587I7	Silent	SNP	ENST00000410023.1	37	CCDS2055.1																																																																																			A|0.998;G|0.002	0.002	strong		0.358	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			G	102781466	A	G	102781466	2	3	22	1	0	0	0	0	0	0	0	1	7658	349	13	2		2	IL1R1	2	102781466	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	155279	102781466	140417907	1499	6607										
IL1RL2	8808	hgsc.bcm.edu	37	chr2	102808560	102808560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccgaagagttgtgttttgGgtccaataaagtggtataag	12	5	0	1	rs138663033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:102808560G>A	ENST00000264257.2	+	4	595	c.469G>A	c.(469-471)Ggt>Agt	p.G157S	IL1RL2_ENST00000539491.1_Missense_Mutation_p.G157S|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	157	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGTGTTTTGGGTCCAATAAA	0.308													G|||	9	0.00179712	0.0068	0.0	5008	,	,		16785	0.0		0.0	False		,,,				2504	0.0				p.G157S		Atlas-SNP	.											.	IL1RL2	118	.	0			c.G469A						PASS	.	G	SER/GLY	14,4392	22.3+/-47.3	0,14,2189	85	82	83		469	2.1	0.1	2	dbSNP_134	83	0,8600		0,0,4300	yes	missense	IL1RL2	NM_003854.2	56	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	157/576	102808560	14,12992	2203	4300	6503	SO:0001583	missense	8808	exon4			GTTTTGGGTCCAA	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.469G>A	2.37:g.102808560G>A	ENSP00000264257:p.Gly157Ser	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	238	95	0.39916	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	6.404	0.442727	0.12164	0.003177	0.0	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.76709	-1.04;2.76;-1.04	5.4	2.08	0.27032	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.759510	0.01061	N	0.004654	T	0.49677	0.1571	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.48502	-0.9030	10	0.17832	T	0.49	.	3.1289	0.06417	0.2457:0.0:0.5487:0.2056	.	157	Q9HB29	ILRL2_HUMAN	S	157	ENSP00000264257:G157S;ENSP00000387611:G157S;ENSP00000442184:G157S	ENSP00000264257:G157S	G	+	1	0	IL1RL2	102174992	0.674000	0.27549	0.060000	0.19600	0.002000	0.02628	0.829000	0.27449	0.752000	0.32923	-0.169000	0.13324	GGT	G|0.999;A|0.001	0.001	strong		0.308	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		A	102808560	G	A	102808560	3	1	22	1	0	0	0	0	1	0	0	0	7664	1232	43	2	479	2	IL1RL2	2	102808560	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27094	102808560	140390813	1500	6608										
IL1RL2	8808	hgsc.bcm.edu	37	chr2	102851708	102851708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcctccggtccagctgcTgcagcacacaccttgctacc	8	17	0	0	rs2302612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:102851708T>C	ENST00000264257.2	+	11	1775	c.1649T>C	c.(1648-1650)cTg>cCg	p.L550P	IL1RL2_ENST00000539491.1_Missense_Mutation_p.L550P|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L432P	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	550			L -> P (in dbSNP:rs2302612). {ECO:0000269|Ref.3}.	PPVQLLQHTPCY -> LRSTCRSTHLCTA (in Ref. 2). {ECO:0000305}.	cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GTCCAGCTGCTGCAGCACACA	0.577											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1592	0.317891	0.5356	0.4496	5008	,	,		20642	0.2857		0.1889	False		,,,				2504	0.0961				p.L550P		Atlas-SNP	.											IL1RL2_ENST00000441515,NS,carcinoma,-1,2	IL1RL2	118	2	0			c.T1649C						PASS	.	C	PRO/LEU	2167,2239	588.8+/-387.0	550,1067,586	58	54	55		1649	1	0.2	2	dbSNP_100	55	1642,6958	739.0+/-407.1	173,1296,2831	yes	missense	IL1RL2	NM_003854.2	98	723,2363,3417	CC,CT,TT		19.093,49.1829,29.2865	benign	550/576	102851708	3809,9197	2203	4300	6503	SO:0001583	missense	8808	exon11			AGCTGCTGCAGCA	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1649T>C	2.37:g.102851708T>C	ENSP00000264257:p.Leu550Pro	Somatic	97	0	0	1369	WXS	Illumina HiSeq	Phase_I	111	111	1	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	689	0.31547619047619047	263	0.5345528455284553	137	0.3784530386740331	152	0.26573426573426573	137	0.18073878627968337	C	9.673	1.147281	0.21288	0.491829	0.19093	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.04809	3.83;3.55;3.83	4.81	1.03	0.20045	.	1.599210	0.03353	N	0.196412	T	0.00012	0.0000	N	0.19112	0.55	0.54753	P	1.3000000000040757E-5	B;B	0.13145	0.003;0.007	B;B	0.09377	0.002;0.004	T	0.46610	-0.9179	9	0.40728	T	0.16	.	9.2098	0.37311	0.0:0.3158:0.0:0.6842	rs2302612;rs59675966;rs2302612	432;550	A4FU63;Q9HB29	.;ILRL2_HUMAN	P	550;432;550	ENSP00000264257:L550P;ENSP00000413348:L432P;ENSP00000442184:L550P	ENSP00000264257:L550P	L	+	2	0	IL1RL2	102218140	0.000000	0.05858	0.166000	0.22797	0.017000	0.09413	0.048000	0.14078	0.084000	0.17077	-1.364000	0.01208	CTG	T|0.699;C|0.301	0.301	strong		0.577	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		C	102851708	T	C	102851708	3	2	22	1	0	0	0	0	1	0	0	0	7664	1580	55	3	1687	3	IL1RL2	2	102851708	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43148	102851708	140347665	1501	6609										
IL1RL1	9173	hgsc.bcm.edu	37	chr2	102957136	102957136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttatttcagaattgtcaggCtcttcaaggatcaaggtaca	8	8	5	1	rs114797672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:102957136C>T	ENST00000233954.1	+	5	729	c.458C>T	c.(457-459)gCt>gTt	p.A153V	IL1RL1_ENST00000311734.2_Missense_Mutation_p.A153V|IL1RL1_ENST00000393393.3_Missense_Mutation_p.A153V|IL1RL1_ENST00000404917.2_Missense_Mutation_p.A36V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A153V	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	153	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AATTGTCAGGCTCTTCAAGGA	0.373													c|||	20	0.00399361	0.0136	0.0029	5008	,	,		17359	0.0		0.0	False		,,,				2504	0.0				p.A153V		Atlas-SNP	.											.	IL1RL1	114	.	0			c.C458T						PASS	.	C	VAL/ALA,VAL/ALA	92,4314	75.7+/-113.9	1,90,2112	125	121	122		458,458	1.9	0.4	2	dbSNP_132	122	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	IL1RL1	NM_003856.2,NM_016232.4	64,64	1,91,6411	TT,TC,CC		0.0116,2.0881,0.7151	benign,benign	153/329,153/557	102957136	93,12913	2203	4300	6503	SO:0001583	missense	9173	exon5			GTCAGGCTCTTCA	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.458C>T	2.37:g.102957136C>T	ENSP00000233954:p.Ala153Val	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	268	128	0.477612	NM_016232	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	10.58	1.390800	0.25118	0.020881	1.16E-4	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.07	1.88	0.25563	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.784816	0.11927	N	0.516068	T	0.03136	0.0092	N	0.11560	0.145	0.29045	N	0.884885	B;B;B	0.22480	0.07;0.056;0.034	B;B;B	0.27262	0.078;0.046;0.034	T	0.40117	-0.9580	10	0.28530	T	0.3	.	5.6013	0.17355	0.1466:0.6513:0.0:0.2021	.	36;153;153	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	V	153;153;36;153;153	ENSP00000233954:A153V;ENSP00000377052:A153V;ENSP00000384822:A36V;ENSP00000310371:A153V;ENSP00000386618:A153V	ENSP00000233954:A153V	A	+	2	0	IL1RL1	102323568	0.043000	0.20138	0.398000	0.26321	0.905000	0.53344	0.083000	0.14871	0.044000	0.15775	0.563000	0.77884	GCT	C|0.992;T|0.008	0.008	strong		0.373	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		T	102957136	C	T	102957136	3	4	22	1	0	0	0	0	1	0	0	0	7663	797	28	2	472	2	IL1RL1	2	102957136	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	105428	102957136	140242237	1502	6610										
SLC9A4	389015	hgsc.bcm.edu	37	chr2	103095494	103095494	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatgcccacccggcccttCtttgagaacatcggctccat	7	16	2	1	rs61731285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:103095494C>T	ENST00000295269.4	+	2	910	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	151					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCGGCCCTTCTTTGAGAACA	0.587													C|||	205	0.0409345	0.0787	0.0086	5008	,	,		17344	0.0873		0.001	False		,,,				2504	0.0061				p.F151F		Atlas-SNP	.											.	SLC9A4	115	.	0			c.C453T						PASS	.	C		384,4022	191.9+/-217.4	14,356,1833	59	56	57		453	2.5	1	2	dbSNP_129	57	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLC9A4	NM_001011552.3		14,359,6130	TT,TC,CC		0.0349,8.7154,2.9755		151/799	103095494	387,12619	2203	4300	6503	SO:0001819	synonymous_variant	389015	exon2			GCCCTTCTTTGAG		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.453C>T	2.37:g.103095494C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_001011552	Q69YK0	Silent	SNP	ENST00000295269.4	37	CCDS33264.1																																																																																			C|0.965;T|0.035	0.035	strong		0.587	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103095494	C	T	103095494	2	4	22	1	0	0	0	0	0	0	0	1	14716	912	32	2		2	SLC9A4	2	103095494	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138358	103095494	140103879	1503	6611										
SLC9A4	389015	hgsc.bcm.edu	37	chr2	103095531	103095531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcctgtggtgggcagtaTtgggggccctgatcaacgcc	14	12	1	1	rs61731286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:103095531T>C	ENST00000295269.4	+	2	947	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	164					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTGGGCAGTATTGGGGGCCCT	0.602													C|||	747	0.149161	0.2958	0.0648	5008	,	,		16740	0.1429		0.0865	False		,,,				2504	0.0818				p.L164L		Atlas-SNP	.											.	SLC9A4	115	.	0			c.T490C						PASS	.	C		987,3419	731.9+/-410.3	121,745,1337	50	49	49		490	2.7	0.2	2	dbSNP_129	49	577,8023	793.0+/-407.5	18,541,3741	no	coding-synonymous	SLC9A4	NM_001011552.3		139,1286,5078	CC,CT,TT		6.7093,22.4013,12.0252		164/799	103095531	1564,11442	2203	4300	6503	SO:0001819	synonymous_variant	389015	exon2			GCAGTATTGGGGG		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.490T>C	2.37:g.103095531T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	119	55	0.462185	NM_001011552	Q69YK0	Silent	SNP	ENST00000295269.4	37	CCDS33264.1																																																																																			T|0.874;C|0.126	0.126	strong		0.602	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		C	103095531	T	C	103095531	2	2	22	1	0	0	0	0	0	0	0	1	14716	1490	52	2		2	SLC9A4	2	103095531	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37	103095531	140103842	1504	6612										
SLC9A4	389015	hgsc.bcm.edu	37	chr2	103142761	103142761	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcctacccctacgggaAtcctcagtctgcaggaagag	9	15	3	1	rs115217520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:103142761A>T	ENST00000295269.4	+	11	2451	c.1994A>T	c.(1993-1995)aAt>aTt	p.N665I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	665					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCTACGGGAATCCTCAGTCT	0.498													A|||	11	0.00219649	0.0083	0.0	5008	,	,		15709	0.0		0.0	False		,,,				2504	0.0				p.N665I		Atlas-SNP	.											.	SLC9A4	115	.	0			c.A1994T						PASS	.	A	ILE/ASN	27,4379	33.5+/-64.1	0,27,2176	126	118	121		1994	3.4	0	2	dbSNP_133	121	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC9A4	NM_001011552.3	149	0,29,6474	TT,TA,AA		0.0233,0.6128,0.223	benign	665/799	103142761	29,12977	2203	4300	6503	SO:0001583	missense	389015	exon11			ACGGGAATCCTCA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1994A>T	2.37:g.103142761A>T	ENSP00000295269:p.Asn665Ile	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	131	59	0.450382	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.38	1.919817	0.33908	0.006128	2.33E-4	ENSG00000180251	ENST00000295269	T	0.46451	0.87	5.8	3.38	0.38709	.	2.143600	0.02112	N	0.054895	T	0.33294	0.0858	L	0.44542	1.39	0.09310	N	1	B	0.22604	0.072	B	0.26517	0.07	T	0.26292	-1.0107	10	0.42905	T	0.14	.	8.6644	0.34112	0.8465:0.0:0.1535:0.0	.	665	Q6AI14	SL9A4_HUMAN	I	665	ENSP00000295269:N665I	ENSP00000295269:N665I	N	+	2	0	SLC9A4	102509193	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.438000	0.26450	0.533000	0.62120	AAT	A|0.997;T|0.003	0.003	strong		0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103142761	A	T	103142761	3	4	22	1	0	0	0	0	1	0	0	0	14716	101	4	5	2036	5	SLC9A4	2	103142761	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47230	103142761	140056612	1505	6613										
SLC9A4	389015	hgsc.bcm.edu	37	chr2	103148868	103148868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcacttcagaagcaagaGgcacaagaaataataccaat	9	8	2	3	rs59687519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:103148868G>A	ENST00000295269.4	+	12	2575	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	706					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAAGCAAGAGGCACAAGAAA	0.468													G|||	88	0.0175719	0.062	0.0086	5008	,	,		21876	0.0		0.0	False		,,,				2504	0.0				p.E706E		Atlas-SNP	.											.	SLC9A4	115	.	0			c.G2118A						PASS	.	G		265,4141	150.3+/-184.3	9,247,1947	93	90	91		2118	0.7	0	2	dbSNP_129	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC9A4	NM_001011552.3		9,249,6245	AA,AG,GG		0.0233,6.0145,2.0529		706/799	103148868	267,12739	2203	4300	6503	SO:0001819	synonymous_variant	389015	exon12			GCAAGAGGCACAA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2118G>A	2.37:g.103148868G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	102	59	0.578431	NM_001011552	Q69YK0	Silent	SNP	ENST00000295269.4	37	CCDS33264.1																																																																																			G|0.981;A|0.019	0.019	strong		0.468	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103148868	G	A	103148868	2	1	22	1	0	0	0	0	0	0	0	1	14716	991	35	2		2	SLC9A4	2	103148868	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6107	103148868	140050505	1506	6614										
MFSD9	84804	hgsc.bcm.edu	37	chr2	103334969	103334969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccactaaggctaacacagcGcccaggctgggggggccgca	15	14	0	0	rs1052431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:103334969G>A	ENST00000258436.5	-	6	1378	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	445					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CTAACACAGCGCCCAGGCTGG	0.552													G|||	2056	0.410543	0.295	0.3271	5008	,	,		18498	0.5714		0.3539	False		,,,				2504	0.5184				p.G445G		Atlas-SNP	.											.	MFSD9	56	.	0			c.C1335T						PASS	.	G		1245,3161	396.7+/-330.2	184,877,1142	40	45	43		1335	-7.6	0	2	dbSNP_86	43	2752,5846	404.9+/-348.3	437,1878,1984	no	coding-synonymous	MFSD9	NM_032718.3		621,2755,3126	AA,AG,GG		32.0074,28.2569,30.7367		445/475	103334969	3997,9007	2203	4299	6502	SO:0001819	synonymous_variant	84804	exon6			CACAGCGCCCAGG		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1335C>T	2.37:g.103334969G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	103	52	0.504854	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																			G|0.653;A|0.347	0.347	strong		0.552	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		A	103334969	G	A	103334969	2	1	22	1	0	0	0	0	0	0	0	1	9539	1074	38	1		1	MFSD9	2	103334969	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	186101	103334969	139864404	1507	6615										
MRPS9	64965	hgsc.bcm.edu	37	chr2	105665808	105665808	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcactcaagaagatattgaCgtaagtacagttactctgtt	7	7	3	3	rs11538197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105665808C>T	ENST00000258455.3	+	2	425	c.315C>T	c.(313-315)gaC>gaT	p.D105D		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	105					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAGATATTGACGTAAGTACAG	0.338													T|||	963	0.192292	0.2239	0.2882	5008	,	,		18484	0.1101		0.2247	False		,,,				2504	0.1329				p.D105D		Atlas-SNP	.											.	MRPS9	32	.	0			c.C315T						PASS	.	T		973,3429	675.7+/-403.1	102,769,1330	59	60	60		315	1.6	1	2	dbSNP_123	60	2069,6527	701.9+/-405.2	232,1605,2461	yes	coding-synonymous-near-splice	MRPS9	NM_182640.2		334,2374,3791	TT,TC,CC		24.0693,22.1036,23.4036		105/397	105665808	3042,9956	2201	4298	6499	SO:0001630	splice_region_variant	64965	exon2			TATTGACGTAAGT		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.315+1C>T	2.37:g.105665808C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_182640	Q6PG40	Silent	SNP	ENST00000258455.3	37	CCDS2065.1																																																																																			C|0.797;T|0.203	0.203	strong		0.338	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	Silent	T	105665808	C	T	105665808	5	4	22	1	0	0	0	0	0	0	1	0	9849	550	19	1	321	1	MRPS9	2	105665808	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2330839	105665808	137533565	1508	6616										
MRPS9	64965	hgsc.bcm.edu	37	chr2	105705507	105705507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcaagccaaaagtctgctCccagaaaaaactgtaaccag	7	11	1	1	rs11538198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105705507C>T	ENST00000258455.3	+	6	665	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	185					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAAGTCTGCTCCCAGAAAAAA	0.308													T|||	836	0.166933	0.1339	0.2781	5008	,	,		14945	0.1091		0.2247	False		,,,				2504	0.1329				p.L185L		Atlas-SNP	.											.	MRPS9	32	.	0			c.C555T						PASS	.	T		639,3767	759.9+/-412.9	33,573,1597	83	88	87		555	-5.4	0	2	dbSNP_120	87	2070,6526	714.8+/-406.0	231,1608,2459	no	coding-synonymous	MRPS9	NM_182640.2		264,2181,4056	TT,TC,CC		24.081,14.503,20.8353		185/397	105705507	2709,10293	2203	4298	6501	SO:0001819	synonymous_variant	64965	exon6			TCTGCTCCCAGAA		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.555C>T	2.37:g.105705507C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	48	17	0.354167	NM_182640	Q6PG40	Silent	SNP	ENST00000258455.3	37	CCDS2065.1																																																																																			C|0.797;T|0.203	0.203	strong		0.308	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		T	105705507	C	T	105705507	2	4	22	1	0	0	0	0	0	0	0	1	9849	842	30	2		2	MRPS9	2	105705507	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39699	105705507	137493866	1509	6617										
MRPS9	64965	hgsc.bcm.edu	37	chr2	105708936	105708936	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaagaatttgtgcagagGtttcgaagaagtgtaactct	13	4	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105708936G>C	ENST00000258455.3	+	8	839	c.729G>C	c.(727-729)agG>agC	p.R243S		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	243					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTGTGCAGAGGTTTCGAAGAA	0.388																																					p.R243S		Atlas-SNP	.											.	MRPS9	32	.	0			c.G729C						PASS	.						140	143	142					2																	105708936		2203	4300	6503	SO:0001583	missense	64965	exon8			GCAGAGGTTTCGA		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.729G>C	2.37:g.105708936G>C	ENSP00000258455:p.Arg243Ser	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	90	46	0.511111	NM_182640	Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580061	0.28180	.	.	ENSG00000135972	ENST00000258455	D	0.92099	-2.97	5.61	1.81	0.25067	.	0.318283	0.38111	N	0.001806	D	0.86896	0.6043	M	0.61703	1.905	0.42674	D	0.993529	B	0.16396	0.017	B	0.10450	0.005	T	0.76602	-0.2899	10	0.39692	T	0.17	-24.4138	2.1982	0.03916	0.2617:0.1209:0.4925:0.1249	.	243	P82933	RT09_HUMAN	S	243	ENSP00000258455:R243S	ENSP00000258455:R243S	R	+	3	2	MRPS9	105075368	0.997000	0.39634	0.988000	0.46212	0.789000	0.44602	0.322000	0.19576	0.115000	0.18071	0.655000	0.94253	AGG	.	.	none		0.388	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		C	105708936	G	C	105708936	3	2	22	1	0	0	0	0	1	0	0	0	9849	1252	44	4	759	4	MRPS9	2	105708936	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3429	105708936	137490437	1510	6618										
TGFBRAP1	9392	hgsc.bcm.edu	37	chr2	105924699	105924699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgacgcgctccttgtcGcccatcagcagctcccgctc	9	17	1	1	rs115690647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105924699G>A	ENST00000393359.2	-	2	486	c.60C>T	c.(58-60)ggC>ggT	p.G20G	TGFBRAP1_ENST00000258449.1_Silent_p.G20G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	20					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCTCCTTGTCGCCCATCAGCA	0.547													G|||	39	0.00778754	0.0295	0.0	5008	,	,		18930	0.0		0.0	False		,,,				2504	0.0				p.G20G	Esophageal Squamous(183;794 2019 9730 21801 48859)	Atlas-SNP	.											.	TGFBRAP1	70	.	0			c.C60T						PASS	.	G	,	101,4305	80.4+/-118.8	0,101,2102	42	41	42		60,60	-3.4	0.2	2	dbSNP_132	42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TGFBRAP1	NM_001142621.1,NM_004257.4	,	0,101,6402	AA,AG,GG		0.0,2.2923,0.7766	,	20/861,20/861	105924699	101,12905	2203	4300	6503	SO:0001819	synonymous_variant	9392	exon2			CTTGTCGCCCATC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.60C>T	2.37:g.105924699G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	88	50	0.568182	NM_004257	A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																			G|0.990;A|0.010	0.010	strong		0.547	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		A	105924699	G	A	105924699	2	1	22	1	0	0	0	0	0	0	0	1	15821	1074	38	1		1	TGFBRAP1	2	105924699	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	215763	105924699	137274674	1511	6619										
C2orf49	79074	hgsc.bcm.edu	37	chr2	105959592	105959592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcataggaaaagtccttcagGccctgtgaagtcgccaccat	10	12	1	1	rs28930676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105959592G>A	ENST00000258457.2	+	3	783	c.554G>A	c.(553-555)gGc>gAc	p.G185D	C2orf49_ENST00000410049.1_Missense_Mutation_p.G143D|C2orf49_ENST00000437250.2_Missense_Mutation_p.G181D			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	185			G -> D (in dbSNP:rs28930676). {ECO:0000269|PubMed:14702039}.		embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AGTCCTTCAGGCCCTGTGAAG	0.443													G|||	254	0.0507188	0.0779	0.0403	5008	,	,		19627	0.0218		0.0417	False		,,,				2504	0.0603				p.G185D		Atlas-SNP	.											.	C2orf49	19	.	0			c.G554A						PASS	.	G	ASP/GLY	332,4074	175.1+/-204.6	13,306,1884	101	98	99		554	3.7	0	2	dbSNP_125	99	383,8217	124.3+/-183.0	6,371,3923	yes	missense	C2orf49	NM_024093.1	94	19,677,5807	AA,AG,GG		4.4535,7.5352,5.4975	possibly-damaging	185/233	105959592	715,12291	2203	4300	6503	SO:0001583	missense	79074	exon3			CTTCAGGCCCTGT	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.554G>A	2.37:g.105959592G>A	ENSP00000258457:p.Gly185Asp	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	77	38	0.493506	NM_024093	B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	99	0.04532967032967033	42	0.08536585365853659	16	0.04419889502762431	13	0.022727272727272728	28	0.036939313984168866	G	9.424	1.083802	0.20309	0.075352	0.044535	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.42900	1.01;0.96;0.96	5.62	3.7	0.42460	.	0.574981	0.19713	N	0.107762	T	0.01156	0.0038	L	0.50333	1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.05484	-1.0882	10	0.30854	T	0.27	-1.8511	2.9627	0.05897	0.1123:0.3477:0.4049:0.1351	rs28930676;rs28930676	181;185	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	D	185;181;143	ENSP00000258457:G185D;ENSP00000400208:G181D;ENSP00000386361:G143D	ENSP00000258457:G185D	G	+	2	0	C2orf49	105326024	0.010000	0.17322	0.005000	0.12908	0.908000	0.53690	1.075000	0.30716	1.272000	0.44329	0.650000	0.86243	GGC	G|0.949;A|0.051	0.051	strong		0.443	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		A	105959592	G	A	105959592	3	1	22	1	0	0	0	0	1	0	0	0	2171	1203	42	2	564	2	C2orf49	2	105959592	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34893	105959592	137239781	1512	6620										
FHL2	2274	hgsc.bcm.edu	37	chr2	105977761	105977761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgtctttcccacagtcGgggcacaggatgtcgtccct	11	13	1	1	rs11124029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:105977761G>A	ENST00000409807.1	-	6	1153	c.819C>T	c.(817-819)ccC>ccT	p.P273P	FHL2_ENST00000409177.1_Silent_p.P389P|FHL2_ENST00000393353.3_Silent_p.P273P|FHL2_ENST00000344213.4_Silent_p.P383P|FHL2_ENST00000393352.3_Silent_p.P273P|FHL2_ENST00000358129.4_Silent_p.P273P|FHL2_ENST00000322142.8_Silent_p.P273P|FHL2_ENST00000408995.1_Silent_p.P273P|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000336660.5_3'UTR			Q14192	FHL2_HUMAN	four and a half LIM domains 2	273	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCCCACAGTCGGGGCACAGGA	0.498													g|||	558	0.111422	0.0809	0.1614	5008	,	,		20874	0.0258		0.1988	False		,,,				2504	0.1155				p.P273P		Atlas-SNP	.											.	FHL2	18	.	0			c.C819T						PASS	.	A	,,,	453,3953	217.1+/-235.6	24,405,1774	117	110	113		819,819,819,819	-11	0.5	2	dbSNP_120	113	1685,6915	308.6+/-309.0	154,1377,2769	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FHL2	NM_001039492.2,NM_001450.3,NM_201555.1,NM_201557.3	,,,	178,1782,4543	AA,AG,GG		19.593,10.2814,16.4386	,,,	273/280,273/280,273/280,273/280	105977761	2138,10868	2203	4300	6503	SO:0001819	synonymous_variant	2274	exon7			ACAGTCGGGGCAC		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.819C>T	2.37:g.105977761G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	95	46	0.484211	NM_001039492	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	CCDS2070.1																																																																																			G|0.852;A|0.148	0.148	strong		0.498	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			A	105977761	G	A	105977761	2	1	22	1	0	0	0	0	0	0	0	1	5879	1103	39	1		1	FHL2	2	105977761	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18169	105977761	137221612	1513	6621										
FHL2	2274	hgsc.bcm.edu	37	chr2	106002854	106002854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggcttcccacactcctcGcaggtgttggcgaacagggt	13	12	0	0	rs11537578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:106002854G>A	ENST00000409807.1	-	2	454	c.120C>T	c.(118-120)tgC>tgT	p.C40C	FHL2_ENST00000409177.1_Silent_p.C156C|FHL2_ENST00000607522.1_Silent_p.C40C|FHL2_ENST00000393353.3_Silent_p.C40C|FHL2_ENST00000322142.8_Silent_p.C40C|FHL2_ENST00000408995.1_Silent_p.C40C|FHL2_ENST00000344213.4_Silent_p.C150C|FHL2_ENST00000336660.5_Silent_p.C40C|FHL2_ENST00000358129.4_Silent_p.C40C|FHL2_ENST00000393352.3_Silent_p.C40C			Q14192	FHL2_HUMAN	four and a half LIM domains 2	40	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CACACTCCTCGCAGGTGTTGG	0.607													G|||	58	0.0115815	0.0416	0.0043	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0				p.C40C		Atlas-SNP	.											.	FHL2	18	.	0			c.C120T						PASS	.	G	,,,	166,4240	111.2+/-149.4	4,158,2041	71	66	68		120,120,120,120	-5.8	0.6	2	dbSNP_120	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FHL2	NM_001039492.2,NM_001450.3,NM_201555.1,NM_201557.3	,,,	4,159,6340	AA,AG,GG		0.0116,3.7676,1.284	,,,	40/280,40/280,40/280,40/280	106002854	167,12839	2203	4300	6503	SO:0001819	synonymous_variant	2274	exon3			CTCCTCGCAGGTG		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.120C>T	2.37:g.106002854G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	138	72	0.521739	NM_001039492	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	CCDS2070.1																																																																																			G|0.989;A|0.011	0.011	strong		0.607	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			A	106002854	G	A	106002854	2	1	22	1	0	0	0	0	0	0	0	1	5879	1079	38	1		1	FHL2	2	106002854	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25093	106002854	137196519	1514	6622										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107041612	107041612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattttcaagaggcttttcActtttcttttcttgatttcc	4	9	5	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107041612A>C	ENST00000409886.3	-	20	2898	c.2811T>G	c.(2809-2811)agT>agG	p.S937R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S937R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	937					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAGGCTTTTCACTTTTCTTTT	0.403																																					p.S937R		Atlas-SNP	.											RGPD3_ENST00000304514,NS,carcinoma,0,2	RGPD3	316	2	0			c.T2811G						scavenged	.						86	76	79					2																	107041612		692	1590	2282	SO:0001583	missense	653489	exon20			CTTTTCACTTTTC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2811T>G	2.37:g.107041612A>C	ENSP00000386588:p.Ser937Arg	Somatic	1034	0	0		WXS	Illumina HiSeq	Phase_I	1268	108	0.0851735	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	5.022	0.189738	0.09547	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.40756	1.03;1.02	2.35	1.1	0.20463	.	.	.	.	.	T	0.34366	0.0895	L	0.54323	1.7	0.09310	N	1	P	0.49559	0.925	B	0.43575	0.424	T	0.16188	-1.0411	9	0.22706	T	0.39	-2.0278	5.5415	0.17041	0.844:0.0:0.156:0.0	.	937	A6NKT7	RGPD3_HUMAN	R	937;695;937	ENSP00000386588:S937R;ENSP00000303659:S937R	ENSP00000303659:S937R	S	-	3	2	RGPD3	106408044	0.541000	0.26417	0.031000	0.17742	0.516000	0.34256	1.090000	0.30902	0.167000	0.19631	0.156000	0.16432	AGT	.	.	weak		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		C	107041612	A	C	107041612	3	2	22	1	0	0	0	0	1	0	0	0	13287	156	6	5	2481	5	RGPD3	2	107041612	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1038758	107041612	136157761	1515	6623										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107084716	107084716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcaccgaggcgacgtacCgctccccgtaggccttgctg	12	17	0	0	rs190902687	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107084716C>T	ENST00000409886.3	-	1	116	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R10Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	10					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GGCGACGTACCGCTCCCCGTA	0.692													.|||	45	0.00898562	0.0318	0.0043	5008	,	,		11990	0.0		0.0	False		,,,				2504	0.0				p.R10Q		Atlas-SNP	.											.	RGPD3	316	.	0			c.G29A						PASS	.	C	GLN/ARG	26,1358		0,26,666	63	92	84		29	1.8	1	2		84	0,3182		0,0,1591	no	missense	RGPD3	NM_001144013.1	43	0,26,2257	TT,TC,CC		0.0,1.8786,0.5694	probably-damaging	10/1759	107084716	26,4540	692	1591	2283	SO:0001583	missense	653489	exon1			ACGTACCGCTCCC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.29G>A	2.37:g.107084716C>T	ENSP00000386588:p.Arg10Gln	Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	437	193	0.441648	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	.	12.78	2.039118	0.35989	0.018786	0.0	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.53857	0.6;0.6	1.8	1.8	0.24995	.	.	.	.	.	T	0.27313	0.0670	L	0.54323	1.7	0.23685	N	0.997116	D	0.58620	0.983	P	0.49192	0.602	T	0.18429	-1.0337	9	0.59425	D	0.04	-11.0149	7.0248	0.24934	0.0:1.0:0.0:0.0	.	10	A6NKT7	RGPD3_HUMAN	Q	10	ENSP00000386588:R10Q;ENSP00000303659:R10Q	ENSP00000303659:R10Q	R	-	2	0	RGPD3	106451148	1.000000	0.71417	0.989000	0.46669	0.038000	0.13279	3.375000	0.52410	0.984000	0.38629	0.186000	0.17326	CGG	C|0.992;T|0.008	0.008	strong		0.692	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		T	107084716	C	T	107084716	3	4	22	1	0	0	0	0	1	0	0	0	13287	652	23	1	5339	1	RGPD3	2	107084716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43104	107084716	136114657	1516	6624										
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107450525	107450525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgaattaatgatgcgtaTggtggttttattcccaacat	9	7	0	1	rs12615112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107450525T>C	ENST00000409382.3	-	3	1631	c.1021A>G	c.(1021-1023)Ata>Gta	p.I341V	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I341V|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I341V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	341			I -> V (in dbSNP:rs12615112).		growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.I341V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATGATGCGTATGGTGGTTTTA	0.398													C|||	1280	0.255591	0.2436	0.1542	5008	,	,		16802	0.4921		0.0775	False		,,,				2504	0.2832				p.I341V		Atlas-SNP	.											ST6GAL2,NS,carcinoma,0,1	ST6GAL2	159	1	1	Substitution - Missense(1)	stomach(1)	c.A1021G						scavenged	.	C	VAL/ILE,VAL/ILE,VAL/ILE	998,3408	730.9+/-410.2	110,778,1315	223	212	216		1021,1021,1021	-7.7	0	2	dbSNP_120	216	778,7822	783.8+/-407.6	23,732,3545	yes	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	29,29,29	133,1510,4860	CC,CT,TT		9.0465,22.6509,13.6552	benign,benign,benign	341/530,341/467,341/530	107450525	1776,11230	2203	4300	6503	SO:0001583	missense	84620	exon3			TGCGTATGGTGGT	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1021A>G	2.37:g.107450525T>C	ENSP00000386942:p.Ile341Val	Somatic	183	1	0.00546448		WXS	Illumina HiSeq	Phase_I	200	89	0.445	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	502	0.22985347985347984	125	0.2540650406504065	57	0.1574585635359116	263	0.4597902097902098	57	0.07519788918205805	C	6.374	0.437102	0.12104	0.226509	0.090465	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.72282	-0.64;-0.64;-0.64	6.03	-7.68	0.01268	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.574537	0.19688	N	0.108354	T	0.00012	0.0000	N	0.25957	0.775	0.80722	P	0.0	B;B	0.13145	0.007;0.003	B;B	0.20577	0.009;0.03	T	0.26292	-1.0107	9	0.23891	T	0.37	-7.2185	6.4229	0.21754	0.0829:0.0973:0.2465:0.5733	rs12615112;rs60735160;rs12615112	341;341	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	V	341	ENSP00000355273:I341V;ENSP00000386942:I341V;ENSP00000387332:I341V	ENSP00000355273:I341V	I	-	1	0	ST6GAL2	106816957	0.004000	0.15560	0.015000	0.15790	0.734000	0.41952	-0.133000	0.10451	-1.546000	0.01717	-1.767000	0.00664	ATA	T|0.811;C|0.189	0.189	strong		0.398	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		C	107450525	T	C	107450525	3	2	22	1	0	0	0	0	1	0	0	0	15221	1464	51	2	671	2	ST6GAL2	2	107450525	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	365809	107450525	135748848	1517	6625										
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107450589	107450589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagttaaatctcaaaacCgcatcatgagaatctaaggg	9	8	3	2	rs3796111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107450589C>T	ENST00000409382.3	-	3	1567	c.957G>A	c.(955-957)gcG>gcA	p.A319A	ST6GAL2_ENST00000361686.4_Silent_p.A319A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.A319A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	319					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATCTCAAAACCGCATCATGAG	0.368													T|||	1859	0.371206	0.4138	0.2983	5008	,	,		18189	0.5694		0.1759	False		,,,				2504	0.362				p.A319A		Atlas-SNP	.											.	ST6GAL2	159	.	0			c.G957A						PASS	.	T	,,	1677,2729	655.6+/-399.9	309,1059,835	154	151	152		957,957,957	-0.6	1	2	dbSNP_107	152	1378,7222	754.8+/-407.5	89,1200,3011	no	coding-synonymous,coding-synonymous,coding-synonymous	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	,,	398,2259,3846	TT,TC,CC		16.0233,38.0617,23.4892	,,	319/530,319/467,319/530	107450589	3055,9951	2203	4300	6503	SO:0001819	synonymous_variant	84620	exon3			CAAAACCGCATCA	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.957G>A	2.37:g.107450589C>T		Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																			C|0.716;T|0.284	0.284	strong		0.368	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107450589	C	T	107450589	2	4	22	1	0	0	0	0	0	0	0	1	15221	639	23	1		1	ST6GAL2	2	107450589	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64	107450589	135748784	1518	6626										
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107459974	107459974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccgtgggcctggctcccCgggggaagggaatcccaatg	15	14	0	0	rs3796110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107459974C>T	ENST00000409382.3	-	2	1070	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G154R|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G154R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	154			G -> R (in dbSNP:rs3796110).		growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTGGCTCCCCGGGGGAAGGG	0.617													C|||	702	0.140176	0.1505	0.147	5008	,	,		14211	0.1369		0.1014	False		,,,				2504	0.1646				p.G154R		Atlas-SNP	.											ST6GAL2,NS,carcinoma,+1,1	ST6GAL2	159	1	0			c.G460A						PASS	.	C	ARG/GLY,ARG/GLY,ARG/GLY	655,3751	268.3+/-268.4	41,573,1589	82	99	93		460,460,460	-2.2	0	2	dbSNP_107	93	639,7961	160.4+/-213.5	20,599,3681	yes	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	125,125,125	61,1172,5270	TT,TC,CC		7.4302,14.8661,9.9493	benign,benign,benign	154/530,154/467,154/530	107459974	1294,11712	2203	4300	6503	SO:0001583	missense	84620	exon2			GCTCCCCGGGGGA	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.460G>A	2.37:g.107459974C>T	ENSP00000386942:p.Gly154Arg	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	122	64	0.52459	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	263	0.12042124542124542	73	0.1483739837398374	41	0.1132596685082873	73	0.12762237762237763	76	0.10026385224274406	C	4.589	0.109487	0.08780	0.148661	0.074302	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.30981	2.53;2.53;1.51	4.89	-2.16	0.07080	.	1.084480	0.07015	N	0.825771	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B;B	0.21381	0.055;0.01	B;B	0.10450	0.005;0.003	T	0.37911	-0.9685	9	0.13470	T	0.59	-3.3377	13.0284	0.58829	0.0:0.4981:0.0:0.5019	rs3796110;rs61140784;rs3796110	154;154	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	R	154	ENSP00000355273:G154R;ENSP00000386942:G154R;ENSP00000387332:G154R	ENSP00000355273:G154R	G	-	1	0	ST6GAL2	106826406	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.227000	0.02950	-0.671000	0.05274	-1.134000	0.01955	GGG	C|0.893;T|0.107	0.107	strong		0.617	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107459974	C	T	107459974	3	4	22	1	0	0	0	0	1	0	0	0	15221	652	23	1	1236	1	ST6GAL2	2	107459974	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9385	107459974	135739399	1519	6627										
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107460162	107460162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcaggtctccaggccccGcatgaaaggaaccggctggg	14	13	2	1	rs80079355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:107460162G>A	ENST00000409382.3	-	2	882	c.272C>T	c.(271-273)gCg>gTg	p.A91V	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A91V|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A91V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	91					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCCAGGCCCCGCATGAAAGGA	0.622													G|||	254	0.0507188	0.1755	0.0216	5008	,	,		14128	0.005		0.002	False		,,,				2504	0.0				p.A91V		Atlas-SNP	.											ST6GAL2,rectum,carcinoma,0,1	ST6GAL2	159	1	0			c.C272T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA	611,3739		41,529,1605	30	36	34		272,272,272	-1.4	0	2	dbSNP_131	34	18,8526		0,18,4254	yes	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	64,64,64	41,547,5859	AA,AG,GG		0.2107,14.046,4.8782	benign,benign,benign	91/530,91/467,91/530	107460162	629,12265	2175	4272	6447	SO:0001583	missense	84620	exon2			GGCCCCGCATGAA	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.272C>T	2.37:g.107460162G>A	ENSP00000386942:p.Ala91Val	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	68	29	0.426471	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	106	0.048534798534798536	91	0.18495934959349594	8	0.022099447513812154	6	0.01048951048951049	1	0.0013192612137203166	G	10.52	1.374099	0.24857	0.14046	0.002107	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.29655	2.56;2.56;1.56	5.35	-1.35	0.09114	.	1.615520	0.03144	N	0.166966	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B	0.20261	0.043;0.001	B;B	0.08055	0.003;0.001	T	0.13124	-1.0521	9	0.05525	T	0.97	-0.9807	5.443	0.16519	0.3548:0.2384:0.4068:0.0	.	91;91	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	V	91	ENSP00000355273:A91V;ENSP00000386942:A91V;ENSP00000387332:A91V	ENSP00000355273:A91V	A	-	2	0	ST6GAL2	106826594	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.979000	0.03774	-0.003000	0.14444	-0.150000	0.13652	GCG	G|0.962;A|0.038	0.038	strong		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107460162	G	A	107460162	3	1	22	1	0	0	0	0	1	0	0	0	15221	1087	38	1	1424	1	ST6GAL2	2	107460162	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	188	107460162	135739211	1520	6628										
RGPD4	285190	hgsc.bcm.edu	37	chr2	108443511	108443511	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagcggtacgtcgcctcCgtgcagggctccgccccgtc	16	16	0	0	rs7576738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:108443511C>G	ENST00000408999.3	+	1	119	c.42C>G	c.(40-42)tcC>tcG	p.S14S	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Silent_p.S14S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	14					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACGTCGCCTCCGTGCAGGGCT	0.711													N|||	3138	0.626597	0.789	0.5144	5008	,	,		9949	0.3383		0.7028	False		,,,				2504	0.7055				p.S14S		Atlas-SNP	.											.	RGPD4	112	.	0			c.C42G						PASS	.						34	56	50					2																	108443511		692	1587	2279	SO:0001819	synonymous_variant	285190	exon1			CGCCTCCGTGCAG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.42C>G	2.37:g.108443511C>G		Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	340	337	0.991176	NM_182588	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																			C|0.408;G|0.592	0.592	strong		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		G	108443511	C	G	108443511	2	3	22	1	0	0	0	0	0	0	0	1	13288	639	23	4		4	RGPD4	2	108443511	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	983349	108443511	134755862	1521	6629										
RGPD4	285190	hgsc.bcm.edu	37	chr2	108479432	108479432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaaacaccacctcgatggGcagaagatcagaattcttta	7	11	2	3	rs200501106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:108479432G>A	ENST00000408999.3	+	17	2490	c.2413G>A	c.(2413-2415)Gca>Aca	p.A805T	RGPD4_ENST00000354986.4_Missense_Mutation_p.A805T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	805					protein targeting to Golgi (GO:0000042)			p.A805T(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCTCGATGGGCAGAAGATCA	0.313													N|||	2732	0.545527	0.4887	0.487	5008	,	,		16500	0.3502		0.6998	False		,,,				2504	0.7065				p.A805T		Atlas-SNP	.											RGPD4,NS,other,0,1	RGPD4	112	1	1	Substitution - Missense(1)	pancreas(1)	c.G2413A						scavenged	.						18	18	18					2																	108479432		691	1577	2268	SO:0001583	missense	285190	exon17			CGATGGGCAGAAG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2413G>A	2.37:g.108479432G>A	ENSP00000386810:p.Ala805Thr	Somatic	985	2	0.00203046		WXS	Illumina HiSeq	Phase_I	881	644	0.730987	NM_182588	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	967	0.44276556776556775	211	0.42886178861788615	165	0.4558011049723757	177	0.3094405594405594	414	0.5461741424802111	-	11.50	1.655837	0.29425	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.19105	2.17;2.17	2.3	2.3	0.28687	.	.	.	.	.	T	0.00012	0.0000	M	0.64997	1.995	0.30751	P	0.745072	P	0.48911	0.917	P	0.48704	0.587	T	0.33624	-0.9861	8	0.11794	T	0.64	-13.8517	11.5619	0.50782	0.0:0.0:1.0:0.0	.	805	Q7Z3J3	RGPD4_HUMAN	T	805;805;563	ENSP00000347081:A805T;ENSP00000386810:A805T	ENSP00000347081:A805T	A	+	1	0	RGPD4	107845864	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	6.517000	0.73759	1.299000	0.44798	0.152000	0.16155	GCA	G|0.250;A|0.750	0.750	weak		0.313	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108479432	G	A	108479432	3	1	22	1	0	0	0	0	1	0	0	0	13288	1203	42	2	2479	2	RGPD4	2	108479432	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35921	108479432	134719941	1522	6630										
RGPD4	285190	hgsc.bcm.edu	37	chr2	108496435	108496435	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgcagagcctccattaTggcatgctgaatttaccaaa	8	9	0	2	rs832352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:108496435T>A	ENST00000408999.3	+	21	5013	c.4936T>A	c.(4936-4938)Tgg>Agg	p.W1646R	RGPD4_ENST00000354986.4_Missense_Mutation_p.W1646R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1646					protein targeting to Golgi (GO:0000042)			p.W1646R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCTCCATTATGGCATGCTGA	0.358													t|||	2779	0.554912	0.5204	0.4914	5008	,	,		18442	0.3472		0.7008	False		,,,				2504	0.7106				p.W1646R		Atlas-SNP	.											RGPD4,NS,carcinoma,0,1	RGPD4	112	1	1	Substitution - Missense(1)	kidney(1)	c.T4936A						PASS	.						42	36	38					2																	108496435		692	1578	2270	SO:0001583	missense	285190	exon21			CCATTATGGCATG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4936T>A	2.37:g.108496435T>A	ENSP00000386810:p.Trp1646Arg	Somatic	498	1	0.00200803		WXS	Illumina HiSeq	Phase_I	478	415	0.868201	NM_182588	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	1139	0.5215201465201466	247	0.5020325203252033	187	0.5165745856353591	197	0.34440559440559443	508	0.6701846965699209	t	10.26	1.301807	0.23736	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42513	0.97;0.97	0.854	0.854	0.19007	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.36921	P	0.10862300000000003	D	0.64830	0.994	D	0.67725	0.953	T	0.35176	-0.9799	8	0.21540	T	0.41	-0.4067	7.1387	0.25543	0.0:0.0:0.0:1.0	rs832352;rs3820958	1646	Q7Z3J3	RGPD4_HUMAN	R	1646;1646;1013	ENSP00000347081:W1646R;ENSP00000386810:W1646R	ENSP00000347081:W1646R	W	+	1	0	RGPD4	107862867	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	3.939000	0.56591	0.641000	0.30601	0.327000	0.21459	TGG	T|0.446;A|0.554	0.554	strong		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108496435	T	A	108496435	3	1	22	1	0	0	0	0	1	0	0	0	13288	1464	51	5	5018	5	RGPD4	2	108496435	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17003	108496435	134702938	1523	6631										
SULT1C3	442038	hgsc.bcm.edu	37	chr2	108875270	108875270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatcctctacctcttctacGaggatattaaaaaagtaagt	7	8	3	0	rs61743196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:108875270G>A	ENST00000329106.2	+	5	607	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SULT1C3_ENST00000376700.1_Missense_Mutation_p.E203K	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	203					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCTCTTCTACGAGGATATTAA	0.453													.|||	89	0.0177716	0.0643	0.0043	5008	,	,		18204	0.0		0.001	False		,,,				2504	0.0				p.E203K		Atlas-SNP	.											.	SULT1C3	53	.	0			c.G607A						PASS	.	G	LYS/GLU	264,4142	150.7+/-184.7	7,250,1946	81	85	84		607	1.2	0	2	dbSNP_129	84	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SULT1C3	NM_001008743.1	56	7,253,6243	AA,AG,GG		0.0349,5.9918,2.0529	probably-damaging	203/305	108875270	267,12739	2203	4300	6503	SO:0001583	missense	442038	exon5			TTCTACGAGGATA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.607G>A	2.37:g.108875270G>A	ENSP00000333310:p.Glu203Lys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	86	44	0.511628	NM_001008743	Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	38	0.0173992673992674	35	0.07113821138211382	3	0.008287292817679558	0	0.0	0	0.0	G	17.06	3.292897	0.60086	0.059918	3.49E-4	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.07908	3.15;3.15	3.1	1.22	0.21188	Sulfotransferase domain (1);	0.109180	0.39909	N	0.001223	T	0.03263	0.0095	H	0.97158	3.95	0.45342	D	0.998332	D	0.89917	1.0	D	0.97110	1.0	T	0.00314	-1.1824	10	0.87932	D	0	.	7.1352	0.25525	0.1009:0.1726:0.7264:0.0	rs61743196	203	Q6IMI6	ST1C3_HUMAN	K	203	ENSP00000333310:E203K;ENSP00000365890:E203K	ENSP00000333310:E203K	E	+	1	0	SULT1C3	108241702	1.000000	0.71417	0.002000	0.10522	0.009000	0.06853	5.266000	0.65525	0.146000	0.19002	0.609000	0.83330	GAG	G|0.978;A|0.022	0.022	strong		0.453	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		A	108875270	G	A	108875270	3	1	22	1	0	0	0	0	1	0	0	0	15375	1059	37	1	625	1	SULT1C3	2	108875270	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	378835	108875270	134324103	1524	6632										
SULT1C4	27233	hgsc.bcm.edu	37	chr2	108994808	108994808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactaatggccttacacgaCatggaggattttacatttga	8	8	0	1	rs1402467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:108994808C>G	ENST00000272452.2	+	1	341	c.15C>G	c.(13-15)gaC>gaG	p.D5E	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5E	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	5			D -> E (in dbSNP:rs1402467). {ECO:0000269|PubMed:9852044, ECO:0000269|Ref.4}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCTTACACGACATGGAGGATT	0.443													G|||	2092	0.417732	0.8752	0.1801	5008	,	,		22504	0.1081		0.2634	False		,,,				2504	0.4458				p.D5E		Atlas-SNP	.											.	SULT1C4	41	.	0			c.C15G						PASS	.	G	GLU/ASP	3378,1028	377.1+/-322.3	1306,766,131	162	169	167		15	-1.8	0	2	dbSNP_88	167	2118,6482	716.6+/-406.1	254,1610,2436	yes	missense	SULT1C4	NM_006588.2	45	1560,2376,2567	GG,GC,CC		24.6279,23.3318,42.2574	benign	5/303	108994808	5496,7510	2203	4300	6503	SO:0001583	missense	27233	exon1			ACACGACATGGAG	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.15C>G	2.37:g.108994808C>G	ENSP00000272452:p.Asp5Glu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_006588	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	CCDS2077.1	776	0.3553113553113553	444	0.9024390243902439	70	0.19337016574585636	62	0.10839160839160839	200	0.2638522427440633	G	1.450	-0.565305	0.03939	0.766682	0.246279	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01745	5.01;4.66	4.88	-1.75	0.08031	.	7739.210000	0.00166	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26950	-1.0088	9	0.02654	T	1	.	6.7063	0.23252	0.4812:0.3766:0.1422:0.0	rs1402467;rs52816974;rs61392346;rs1402467	5;5;5	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	E	5	ENSP00000272452:D5E;ENSP00000387225:D5E	ENSP00000272452:D5E	D	+	3	2	SULT1C4	108361240	0.281000	0.24258	0.007000	0.13788	0.136000	0.21042	-0.691000	0.05133	-0.973000	0.03555	-0.167000	0.13348	GAC	C|0.602;G|0.398	0.398	strong		0.443	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		G	108994808	C	G	108994808	3	3	22	1	0	0	0	0	1	0	0	0	15376	477	17	4	17	4	SULT1C4	2	108994808	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	119538	108994808	134204565	1525	6633										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109347314	109347314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttatgaattggaagaaaaCacagacaaagccgttgaatg	9	6	0	4	rs144278795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:109347314C>G	ENST00000283195.6	+	3	351	c.225C>G	c.(223-225)aaC>aaG	p.N75K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	75					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGAAGAAAACACAGACAAAG	0.353													C|||	16	0.00319489	0.0083	0.0058	5008	,	,		16939	0.0		0.001	False		,,,				2504	0.0				p.N75K		Atlas-SNP	.											.	RANBP2	488	.	0			c.C225G						PASS	.	C	LYS/ASN	19,2931		0,19,1456	102	123	115		225	-0.8	0.8	2	dbSNP_134	115	0,5138		0,0,2569	no	missense	RANBP2	NM_006267.4	94	0,19,4025	GG,GC,CC		0.0,0.6441,0.2349	probably-damaging	75/3225	109347314	19,8069	1475	2569	4044	SO:0001583	missense	5903	exon3			AGAAAACACAGAC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.225C>G	2.37:g.109347314C>G	ENSP00000283195:p.Asn75Lys	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	296	142	0.47973	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833077	0.50951	0.006441	0.0	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.61392	0.11	4.24	-0.825	0.10809	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.56645	0.1999	L	0.55103	1.725	0.27121	N	0.962148	D	0.61080	0.989	P	0.62435	0.902	T	0.55854	-0.8075	9	0.45353	T	0.12	-19.048	9.7309	0.40361	0.0:0.4107:0.0:0.5893	.	75	P49792	RBP2_HUMAN	K	75;75;49	ENSP00000283195:N75K	ENSP00000283195:N75K	N	+	3	2	RANBP2	108713746	0.342000	0.24809	0.759000	0.31340	0.848000	0.48234	-0.351000	0.07711	-0.299000	0.08909	-0.237000	0.12165	AAC	C|0.996;G|0.004	0.004	strong		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109347314	C	G	109347314	3	3	22	1	0	0	0	0	1	0	0	0	13028	477	17	4	235	4	RANBP2	2	109347314	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	352506	109347314	133852059	1526	6634										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109371659	109371659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaaacaccacctcgatggGcagaagatcagaattcttta	7	11	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:109371659G>A	ENST00000283195.6	+	17	2536	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	804					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTCGATGGGCAGAAGATCA	0.308																																					p.A804T		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,2	RANBP2	488	2	0			c.G2410A						scavenged	.						140	163	155					2																	109371659		2199	4297	6496	SO:0001583	missense	5903	exon17			CGATGGGCAGAAG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2410G>A	2.37:g.109371659G>A	ENSP00000283195:p.Ala804Thr	Somatic	844	3	0.0035545		WXS	Illumina HiSeq	Phase_I	922	10	0.010846	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919938	0.92249	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.19105	2.17	5.8	5.8	0.92144	.	.	.	.	.	T	0.34337	0.0894	L	0.34521	1.04	0.49130	D	0.999754	D	0.67145	0.996	P	0.58331	0.837	T	0.01532	-1.1331	9	0.54805	T	0.06	-13.8517	20.0609	0.97674	0.0:0.0:1.0:0.0	.	804	P49792	RBP2_HUMAN	T	804	ENSP00000283195:A804T	ENSP00000283195:A804T	A	+	1	0	RANBP2	108738091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.714000	0.74692	2.737000	0.93849	0.542000	0.68232	GCA	.	.	none		0.308	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109371659	G	A	109371659	3	1	22	1	0	0	0	0	1	0	0	0	13028	1203	42	2	2476	2	RANBP2	2	109371659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24345	109371659	133827714	1527	6635										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109384665	109384665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacctttgaaaagtaacaAtagtgaaactagttcagtag	8	6	1	2	rs145613015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:109384665A>G	ENST00000283195.6	+	20	7796	c.7670A>G	c.(7669-7671)aAt>aGt	p.N2557S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2557					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGTAACAATAGTGAAACT	0.363													A|||	10	0.00199681	0.0068	0.0014	5008	,	,		20419	0.0		0.0	False		,,,				2504	0.0				p.N2557S		Atlas-SNP	.											.	RANBP2	488	.	0			c.A7670G						PASS	.	A	SER/ASN	27,4379	30.8+/-60.4	1,25,2177	84	98	93		7670	-1	0	2	dbSNP_134	93	0,8594		0,0,4297	no	missense	RANBP2	NM_006267.4	46	1,25,6474	GG,GA,AA		0.0,0.6128,0.2077	benign	2557/3225	109384665	27,12973	2203	4297	6500	SO:0001583	missense	5903	exon20			GTAACAATAGTGA	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7670A>G	2.37:g.109384665A>G	ENSP00000283195:p.Asn2557Ser	Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	378	186	0.492063	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.385684	0.01194	0.006128	0.0	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25250	1.81	5.31	-1.03	0.10102	.	.	.	.	.	T	0.04679	0.0127	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	9	0.07644	T	0.81	-6.4079	10.0576	0.42255	0.5205:0.0:0.4795:0.0	.	2557	P49792	RBP2_HUMAN	S	1581;2557	ENSP00000283195:N2557S	ENSP00000283195:N2557S	N	+	2	0	RANBP2	108751097	0.000000	0.05858	0.007000	0.13788	0.682000	0.39822	-0.668000	0.05268	-0.097000	0.12307	0.377000	0.23210	AAT	.	.	weak		0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109384665	A	G	109384665	3	3	22	1	0	0	0	0	1	0	0	0	13028	101	4	2	7748	2	RANBP2	2	109384665	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13006	109384665	133814708	1528	6636										
CCDC138	165055	hgsc.bcm.edu	37	chr2	109429277	109429277	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcatatatactgttgcagaGgaagtacgagtttatgacaa	10	6	0	2	rs58170568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:109429277G>C	ENST00000295124.4	+	9	995	c.935G>C	c.(934-936)aGg>aCg	p.R312T	CCDC138_ENST00000412964.2_Splice_Site_p.R312T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	312										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTGTTGCAGAGGAAGTACGAG	0.318													G|||	31	0.0061901	0.0212	0.0043	5008	,	,		19524	0.0		0.0	False		,,,				2504	0.0				p.R312T		Atlas-SNP	.											.	CCDC138	49	.	0			c.G935C						PASS	.	G	THR/ARG	77,4329	68.1+/-105.8	1,75,2127	88	90	89		935	5.5	1	2	dbSNP_129	89	0,8598		0,0,4299	yes	missense-near-splice	CCDC138	NM_144978.1	71	1,75,6426	CC,CG,GG		0.0,1.7476,0.5921	benign	312/666	109429277	77,12927	2203	4299	6502	SO:0001630	splice_region_variant	165055	exon9			TGCAGAGGAAGTA	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.934-1G>C	2.37:g.109429277G>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	163	76	0.466258	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	14|14	0.00641025641025641|0.00641025641025641	11|11	0.022357723577235773|0.022357723577235773	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.96|13.96	2.393929|2.393929	0.42410|0.42410	0.017476|0.017476	0.0|0.0	ENSG00000163006|ENSG00000163006	ENST00000456512|ENST00000412964;ENST00000295124	.|D;D	.|0.89681	.|-2.55;-2.55	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89670|0.89670	0.6782|0.6782	M|M	0.72894|0.72894	2.215|2.215	0.44798|0.44798	D|D	0.997805|0.997805	.|D;B	.|0.76494	.|0.999;0.441	.|D;B	.|0.83275	.|0.996;0.2	D|D	0.89997|0.89997	0.4112|0.4112	5|10	.|0.45353	.|T	.|0.12	.|.	18.1478|18.1478	0.89663|0.89663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs58170568|rs58170568	.|312;312	.|Q96M89-2;Q96M89	.|.;CC138_HUMAN	R|T	209|312	.|ENSP00000411800:R312T;ENSP00000295124:R312T	.|ENSP00000295124:R312T	G|R	+|+	1|2	0|0	CCDC138|CCDC138	108795709|108795709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.398000|0.398000	0.30690|0.30690	5.570000|5.570000	0.67398|0.67398	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	GGA|AGG	G|0.993;C|0.007	0.007	strong		0.318	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Missense_Mutation	C	109429277	G	C	109429277	5	2	22	1	0	0	0	0	0	0	1	0	2772	1014	35	4	969	4	CCDC138	2	109429277	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44612	109429277	133770096	1529	6637										
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372688	110372688	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgccagaacctccgtgacCtggtgatgggcagctccccg	12	17	0	3	rs72938294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:110372688C>G	ENST00000356454.3	+	1	778	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	208																	CCTCCGTGACCTGGTGATGGG	0.736													C|||	95	0.0189696	0.0688	0.0058	5008	,	,		11693	0.0		0.0	False		,,,				2504	0.0				p.L208V		Atlas-SNP	.											.	.	.	.	0			c.C622G						PASS	.	C	VAL/LEU	168,3274		1,166,1554	8	9	9		622	1.7	0	2	dbSNP_130	9	3,6469		0,3,3233	yes	missense	ANKRD57	NM_023016.3	32	1,169,4787	GG,GC,CC		0.0464,4.8809,1.7248	possibly-damaging	208/526	110372688	171,9743	1721	3236	4957	SO:0001583	missense	65124	exon1			CGTGACCTGGTGA	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.622C>G	2.37:g.110372688C>G	ENSP00000365830:p.Leu208Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	83	40	0.481928	NM_023016	Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	CCDS33270.1	36	0.016483516483516484	31	0.06300813008130081	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	0.725	-0.782051	0.02907	0.048809	4.64E-4	ENSG00000198142	ENST00000356454	T	0.26373	1.74	3.58	1.66	0.24008	.	1.034310	0.07796	N	0.955796	T	0.01661	0.0053	N	0.22421	0.69	0.09310	N	1	B	0.22003	0.063	B	0.22386	0.039	T	0.27971	-1.0058	10	0.38643	T	0.18	-1.0053	4.8489	0.13528	0.1515:0.615:0.147:0.0865	.	208	Q53LP3	ANR57_HUMAN	V	208	ENSP00000365830:L208V	ENSP00000365830:L208V	L	+	1	2	ANKRD57	109729977	0.000000	0.05858	0.037000	0.18230	0.225000	0.24961	0.616000	0.24344	0.273000	0.22049	0.462000	0.41574	CTG	C|0.983;G|0.017	0.017	strong		0.736	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372688	C	G	110372688	3	3	22	1	0	0	0	0	1	0	0	0	683	680	24	4	624	4	ANKRD57	2	110372688	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	943411	110372688	132826685	1530	6638										
MERTK	10461	hgsc.bcm.edu	37	chr2	112722854	112722854	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtgcagatcaacatcaaaGgtaagcagcaaggctaggct	12	8	2	1	rs7588635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:112722854G>A	ENST00000295408.4	+	5	1101	c.844G>A	c.(844-846)Gca>Aca	p.A282T	MERTK_ENST00000421804.2_Splice_Site_p.A282T|MERTK_ENST00000409780.1_Splice_Site_p.A106T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	282			A -> T (in dbSNP:rs7588635). {ECO:0000269|PubMed:11062461, ECO:0000269|PubMed:17344846}.		apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAACATCAAAGGTAAGCAGCA	0.567													G|||	233	0.0465256	0.171	0.0086	5008	,	,		19523	0.0		0.001	False		,,,				2504	0.0				p.A282T		Atlas-SNP	.											.	MERTK	112	.	0			c.G844A						PASS	.	G	THR/ALA	598,3808	255.2+/-260.5	47,504,1652	102	80	88		844	5.8	1	2	dbSNP_116	88	6,8594	4.3+/-15.6	0,6,4294	yes	missense-near-splice	MERTK	NM_006343.2	58	47,510,5946	AA,AG,GG		0.0698,13.5724,4.644	benign	282/1000	112722854	604,12402	2203	4300	6503	SO:0001630	splice_region_variant	10461	exon5			ATCAAAGGTAAGC	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.844+1G>A	2.37:g.112722854G>A		Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	201	94	0.467662	NM_006343	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	90	0.04120879120879121	87	0.17682926829268292	3	0.008287292817679558	0	0.0	0	0.0	G	17.78	3.474628	0.63737	0.135724	6.98E-4	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.36520	1.25;1.25;1.25	5.75	5.75	0.90469	Immunoglobulin-like fold (1);	0.534882	0.13857	U	0.357982	T	0.00109	0.0003	L	0.58101	1.795	0.30039	P	0.8128029999999999	B	0.32245	0.361	B	0.25140	0.058	T	0.05084	-1.0907	9	0.72032	D	0.01	-0.4319	19.5333	0.95239	0.0:0.0:1.0:0.0	rs7588635;rs17838486;rs7588635	282	Q12866	MERTK_HUMAN	T	282;282;106	ENSP00000295408:A282T;ENSP00000389152:A282T;ENSP00000387277:A106T	ENSP00000295408:A282T	A	+	1	0	MERTK	112439325	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	4.652000	0.61454	2.720000	0.93068	0.563000	0.77884	GCA	G|0.947;A|0.053	0.053	strong		0.567	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		Missense_Mutation	A	112722854	G	A	112722854	5	1	22	1	0	0	0	0	0	0	1	0	9479	1014	35	2	862	2	MERTK	2	112722854	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2350166	112722854	130476519	1531	6639										
MERTK	10461	hgsc.bcm.edu	37	chr2	112740561	112740561	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccacgtgtggcagagtgcAgggatttccgtaagtctaaa	12	9	1	1	rs115203717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:112740561A>G	ENST00000295408.4	+	8	1544	c.1287A>G	c.(1285-1287)gcA>gcG	p.A429A	MERTK_ENST00000421804.2_Silent_p.A429A|MERTK_ENST00000409780.1_Silent_p.A253A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	429	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGCAGAGTGCAGGGATTTCCG	0.448													A|||	28	0.00559105	0.0197	0.0029	5008	,	,		19646	0.0		0.0	False		,,,				2504	0.0				p.A429A		Atlas-SNP	.											.	MERTK	112	.	0			c.A1287G						PASS	.	A		48,4358	50.9+/-86.3	1,46,2156	111	106	108		1287	-9.6	0	2	dbSNP_132	108	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		1,46,6456	GG,GA,AA		0.0,1.0894,0.3691		429/1000	112740561	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	10461	exon8			GAGTGCAGGGATT	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1287A>G	2.37:g.112740561A>G		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_006343	Q9HBB4	Silent	SNP	ENST00000295408.4	37	CCDS2094.1																																																																																			A|0.995;G|0.005	0.005	strong		0.448	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			G	112740561	A	G	112740561	2	3	22	1	0	0	0	0	0	0	0	1	9479	175	7	3		3	MERTK	2	112740561	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17707	112740561	130458812	1532	6640										
TMEM87B	84910	hgsc.bcm.edu	37	chr2	112832536	112832538	+	Splice_Site	DEL	AAT	AAT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcaaaccaggaaagatcAatggtaagcagtttgatttg					rs201146763|rs71385858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:112832536_112832538delAAT	ENST00000283206.4	+	5	867_869	c.498_500delAAT	c.(496-501)tcaatg>tcg	p.M167del		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	167						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AGGAAAGATCAATGGTAAGCAGT	0.3														1297	0.258986	0.2118	0.2954	5008	,	,		17959	0.1835		0.3976	False		,,,				2504	0.2321				p.166_167del		Pindel	.											.	TMEM87B	52	.	0			c.497_499del						PASS	.			915,3343		103,709,1317						3.6	0.8		dbSNP_130	41	3245,4989		636,1973,1508	no	coding-near-splice	TMEM87B	NM_032824.2		739,2682,2825	A1A1,A1R,RR		39.4098,21.489,33.3013				4160,8332				SO:0001630	splice_region_variant	84910	exon5			.	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.501+1AAT>-	2.37:g.112832536_112832538delAAT		Somatic	263	.	.		WXS	Illumina HiSeq	Phase_I	231	53	0.229	NM_032824	A8K2M9|Q1RLN2|Q53R54	In_Frame_Del	DEL	ENST00000283206.4	37	CCDS33275.1																																																																																			AAT|0.722;-|0.278	0.278	strong		0.3	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	In_Frame_Del	-	112832538	AAT	-	112832536	8	5	22	1	0	1	0	1	0	0	1	0	16208	117	5	0	516	0	TMEM87B	2	112832536	Splice_Site	DEL	AAT	TCGA-G8-6324-01A-11D-2210-10	91975	112832536	130366837	1533	6641										
ZC3H6	376940	hgsc.bcm.edu	37	chr2	113090047	113090047	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaaaacttttgatccaacTgcttcaccattttgttagct	4	9	1	1	rs4578863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113090047T>C	ENST00000409871.1	+	12	3953	c.3552T>C	c.(3550-3552)acT>acC	p.T1184T	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.T1184T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1184							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTGATCCAACTGCTTCACCAT	0.423													C|||	3626	0.724042	0.966	0.6455	5008	,	,		15966	0.7421		0.5477	False		,,,				2504	0.6155				p.T1184T		Atlas-SNP	.											.	ZC3H6	93	.	0			c.T3552C						PASS	.	C		2893,339		1310,273,33	90	105	100		3552	-9.7	0.9	2	dbSNP_111	100	4000,3356		1138,1724,816	no	coding-synonymous	ZC3H6	NM_198581.2		2448,1997,849	CC,CT,TT		45.6226,10.4889,34.898		1184/1190	113090047	6893,3695	1616	3678	5294	SO:0001819	synonymous_variant	376940	exon12			TCCAACTGCTTCA	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3552T>C	2.37:g.113090047T>C		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_198581	A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																			T|0.276;C|0.724	0.724	strong		0.423	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		C	113090047	T	C	113090047	2	2	22	1	0	0	0	0	0	0	0	1	17568	1567	55	3		3	ZC3H6	2	113090047	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	257511	113090047	130109326	1534	6642										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147666	113147666	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacggcccttcttccggccCctaatatcctgagcctgtaa	7	17	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113147666C>A	ENST00000302558.3	-	20	3047	c.2856G>T	c.(2854-2856)agG>agT	p.R952S	RGPD8_ENST00000409750.1_Missense_Mutation_p.R812S	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	952					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTTCCGGCCCCTAATATCCT	0.413																																					p.R952S		Atlas-SNP	.											RGPD8_ENST00000302558,NS,carcinoma,-1,2	RGPD8	81	2	0			c.G2856T						scavenged	.						170	130	143					2																	113147666		688	1572	2260	SO:0001583	missense	727851	exon20			CCGGCCCCTAATA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2856G>T	2.37:g.113147666C>A	ENSP00000306637:p.Arg952Ser	Somatic	1391	2	0.00143781		WXS	Illumina HiSeq	Phase_I	1597	126	0.0788979	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.797847	0.00004	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36340	1.26;1.26	2.33	2.33	0.28932	.	.	.	.	.	T	0.05410	0.0143	N	0.00067	-2.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	9	0.05525	T	0.97	-3.6976	3.1911	0.06618	0.5145:0.2459:0.0:0.2395	.	952	O14715	RGPD8_HUMAN	S	952;812	ENSP00000306637:R952S;ENSP00000386511:R812S	ENSP00000306637:R952S	R	-	3	2	RGPD8	112864137	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	0.325000	0.19628	0.153000	0.19213	-1.882000	0.00544	AGG	C|0.500;A|0.500	0.500	weak		0.413	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		A	113147666	C	A	113147666	3	1	22	1	0	0	0	0	1	0	0	0	13289	622	22	4	13471	4	RGPD5	2	113147666	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57619	113147666	130051707	1535	6643										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147751	113147751	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctggttccgaaatgccaAatttaaatccatcagcagac	6	11	1	1	rs561418400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113147751A>C	ENST00000302558.3	-	20	2962	c.2771T>G	c.(2770-2772)tTt>tGt	p.F924C	RGPD8_ENST00000409750.1_Missense_Mutation_p.F784C	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	924					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CGAAATGCCAAATTTAAATCC	0.398													.|||	287	0.0573083	0.2126	0.0086	5008	,	,		19416	0.0		0.0	False		,,,				2504	0.0				p.F924C		Atlas-SNP	.											.	RGPD8	81	.	0			c.T2771G						PASS	.						6	9	8					2																	113147751		655	1498	2153	SO:0001583	missense	727851	exon20			ATGCCAAATTTAA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2771T>G	2.37:g.113147751A>C	ENSP00000306637:p.Phe924Cys	Somatic	627	0	0		WXS	Illumina HiSeq	Phase_I	720	230	0.319444	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	11.55	1.670972	0.29693	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.52983	0.65;0.64	2.33	2.33	0.28932	.	.	.	.	.	T	0.61223	0.2330	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.59359	-0.7469	9	0.37606	T	0.19	-28.0606	8.2389	0.31645	1.0:0.0:0.0:0.0	.	924	O14715	RGPD8_HUMAN	C	924;784	ENSP00000306637:F924C;ENSP00000386511:F784C	ENSP00000306637:F924C	F	-	2	0	RGPD8	112864222	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	8.054000	0.89451	1.076000	0.40961	0.147000	0.16070	TTT	.	.	none		0.398	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		C	113147751	A	C	113147751	3	2	22	1	0	0	0	0	1	0	0	0	13289	14	1	5	13556	5	RGPD5	2	113147751	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85	113147751	130051622	1536	6644										
CKAP2L	150468	hgsc.bcm.edu	37	chr2	113509891	113509891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagtgttgttaattttacTggacagttcgagttgtgctt	11	5	0	1	rs36046436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113509891T>C	ENST00000302450.6	-	5	1633	c.1555A>G	c.(1555-1557)Agt>Ggt	p.S519G	CKAP2L_ENST00000541405.1_Missense_Mutation_p.S354G	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	519			S -> G (in dbSNP:rs36046436).			centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTAATTTTACTGGACAGTTCG	0.348													T|||	66	0.0131789	0.0492	0.0014	5008	,	,		17493	0.0		0.0	False		,,,				2504	0.0				p.S519G		Atlas-SNP	.											.	CKAP2L	54	.	0			c.A1555G						PASS	.	T	GLY/SER	207,4199	127.8+/-164.7	5,197,2001	253	252	252		1555	0.2	0	2	dbSNP_126	252	0,8600		0,0,4300	yes	missense	CKAP2L	NM_152515.3	56	5,197,6301	CC,CT,TT		0.0,4.6981,1.5916	benign	519/746	113509891	207,12799	2203	4300	6503	SO:0001583	missense	150468	exon5			TTTTACTGGACAG	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1555A>G	2.37:g.113509891T>C	ENSP00000305204:p.Ser519Gly	Somatic	396	0	0		WXS	Illumina HiSeq	Phase_I	382	184	0.481675	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	T	5.135	0.210489	0.09757	0.046981	0.0	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.22945	1.93;1.93	5.61	0.251	0.15540	.	0.735060	0.14028	N	0.346338	T	0.01730	0.0055	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.034;0.103	B;B	0.25140	0.04;0.058	T	0.23583	-1.0184	10	0.21014	T	0.42	0.2974	1.8328	0.03133	0.1345:0.1548:0.1396:0.5711	rs36046436	108;519	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	G	354;519	ENSP00000438763:S354G;ENSP00000305204:S519G	ENSP00000305204:S519G	S	-	1	0	CKAP2L	113226362	0.001000	0.12720	0.041000	0.18516	0.163000	0.22366	0.999000	0.29757	0.391000	0.25143	-0.481000	0.04817	AGT	T|0.983;C|0.017	0.017	strong		0.348	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		C	113509891	T	C	113509891	3	2	22	1	0	0	0	0	1	0	0	0	3443	1580	55	3	702	3	CKAP2L	2	113509891	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	362140	113509891	129689482	1537	6645										
CKAP2L	150468	hgsc.bcm.edu	37	chr2	113514159	113514159	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcttgcaagatctgctccTctagagagttgctgtgattt	11	8	3	3	rs17042341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113514159T>A	ENST00000302450.6	-	4	867	c.789A>T	c.(787-789)agA>agT	p.R263S	CKAP2L_ENST00000541405.1_Missense_Mutation_p.R98S|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	263			R -> S (in dbSNP:rs17042341). {ECO:0000269|PubMed:15815621}.			centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GATCTGCTCCTCTAGAGAGTT	0.413													T|||	370	0.0738818	0.2073	0.0461	5008	,	,		20599	0.0		0.0497	False		,,,				2504	0.0143				p.R263S		Atlas-SNP	.											.	CKAP2L	54	.	0			c.A789T						PASS	.	T	SER/ARG	760,3646	309.7+/-291.2	60,640,1503	121	122	122		789	0	0	2	dbSNP_123	122	453,8147	135.6+/-192.8	15,423,3862	yes	missense	CKAP2L	NM_152515.3	110	75,1063,5365	AA,AT,TT		5.2674,17.2492,9.3265	possibly-damaging	263/746	113514159	1213,11793	2203	4300	6503	SO:0001583	missense	150468	exon4			TGCTCCTCTAGAG	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.789A>T	2.37:g.113514159T>A	ENSP00000305204:p.Arg263Ser	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	138	0.06318681318681318	90	0.18292682926829268	15	0.04143646408839779	0	0.0	33	0.04353562005277045	T	12.82	2.052933	0.36181	0.172492	0.052674	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11495	2.77;3.42	5.35	0.0376	0.14197	.	0.522659	0.20267	N	0.095744	T	0.00039	0.0001	M	0.62723	1.935	0.80722	P	0.0	B	0.32829	0.386	B	0.34242	0.178	T	0.24476	-1.0159	9	0.46703	T	0.11	-11.3302	3.3236	0.07059	0.1664:0.2727:0.0:0.5609	rs17042341;rs52812224;rs17042341	263	Q8IYA6	CKP2L_HUMAN	S	98;263	ENSP00000438763:R98S;ENSP00000305204:R263S	ENSP00000305204:R263S	R	-	3	2	CKAP2L	113230630	0.001000	0.12720	0.009000	0.14445	0.631000	0.37964	0.626000	0.24492	0.193000	0.20303	-0.361000	0.07541	AGA	T|0.919;A|0.081	0.081	strong		0.413	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		A	113514159	T	A	113514159	3	1	22	1	0	0	0	0	1	0	0	0	3443	1548	54	5	1472	5	CKAP2L	2	113514159	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4268	113514159	129685214	1538	6646										
CKAP2L	150468	hgsc.bcm.edu	37	chr2	113514180	113514180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagagagttgctgtgatttTactgggaaagtcctgctttg	12	6	0	2	rs17042342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113514180T>C	ENST00000302450.6	-	4	846	c.768A>G	c.(766-768)gtA>gtG	p.V256V	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Silent_p.V91V	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	256						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTGATTTTACTGGGAAAG	0.418													T|||	370	0.0738818	0.2073	0.0461	5008	,	,		20522	0.0		0.0497	False		,,,				2504	0.0143				p.V256V		Atlas-SNP	.											.	CKAP2L	54	.	0			c.A768G						PASS	.	T		760,3646	304.9+/-288.7	60,640,1503	121	122	122		768	-9.1	0	2	dbSNP_123	122	453,8147	135.1+/-192.4	15,423,3862	no	coding-synonymous	CKAP2L	NM_152515.3		75,1063,5365	CC,CT,TT		5.2674,17.2492,9.3265		256/746	113514180	1213,11793	2203	4300	6503	SO:0001819	synonymous_variant	150468	exon4			TGATTTTACTGGG	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.768A>G	2.37:g.113514180T>C		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	143	66	0.461538	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	CCDS2100.1																																																																																			T|0.919;C|0.081	0.081	strong		0.418	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		C	113514180	T	C	113514180	2	2	22	1	0	0	0	0	0	0	0	1	3443	1741	61	2		2	CKAP2L	2	113514180	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	113514180	129685193	1539	6647										
IL1A	3552	hgsc.bcm.edu	37	chr2	113539224	113539224	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctccaggtcatcatcagtGatggattggcttaaactcaa	9	10	4	1	rs20540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113539224G>A	ENST00000263339.3	-	4	431	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	92					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	CATCATCAGTGATGGATTGGC	0.453													G|||	96	0.0191693	0.0719	0.0014	5008	,	,		23080	0.0		0.0	False		,,,				2504	0.0				p.I92I		Atlas-SNP	.											.	IL1A	19	.	0			c.C276T						PASS	.	G		263,4143	149.9+/-184.0	9,245,1949	218	203	208		276	0	0	2	dbSNP_67	208	0,8600		0,0,4300	no	coding-synonymous	IL1A	NM_000575.3		9,245,6249	AA,AG,GG		0.0,5.9691,2.0221		92/272	113539224	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	3552	exon4			ATCAGTGATGGAT	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.276C>T	2.37:g.113539224G>A		Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	242	112	0.46281	NM_000575	Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	CCDS2101.1																																																																																			G|0.980;A|0.020	0.020	strong		0.453	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		A	113539224	G	A	113539224	2	1	22	1	0	0	0	0	0	0	0	1	7650	1280	45	2		2	IL1A	2	113539224	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25044	113539224	129660149	1540	6648										
PSD4	23550	hgsc.bcm.edu	37	chr2	113941002	113941002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccctccattccctgtgccCatctataaaccacactccat	2	19	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:113941002C>T	ENST00000245796.6	+	2	1164	c.969C>T	c.(967-969)ccC>ccT	p.P323P	PSD4_ENST00000441564.3_Silent_p.P323P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	323					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCTGTGCCCATCTATAAAC	0.607																																					p.P323P		Atlas-SNP	.											PSD4,NS,carcinoma,+2,1	PSD4	74	1	0			c.C969T						scavenged	.						56	49	51					2																	113941002		2203	4300	6503	SO:0001819	synonymous_variant	23550	exon2			TGTGCCCATCTAT	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.969C>T	2.37:g.113941002C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	229	3	0.0131004	NM_012455	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																			.	.	none		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113941002	C	T	113941002	2	4	22	1	0	0	0	0	0	0	0	1	12649	581	21	2		2	PSD4	2	113941002	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	401778	113941002	129258371	1541	6649										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114257381	114257381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagggcacctactggagccTggaccccgcctcccaggaca	11	17	0	0	rs13428956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:114257381T>G	ENST00000306507.5	+	1	721	c.548T>G	c.(547-549)cTg>cGg	p.L183R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	183					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTGGAGCCTGGACCCCGCC	0.652													.|||	306	0.0611022	0.2216	0.0159	5008	,	,		10688	0.0		0.0	False		,,,				2504	0.002				p.L183R		Atlas-SNP	.											.	FOXD4L1	48	.	0			c.T548G						PASS	.	T	ARG/LEU	727,3503		131,465,1519	54	72	66		548	2.6	1	2	dbSNP_121	66	3,8201		0,3,4099	no	missense	FOXD4L1	NM_012184.4	102	131,468,5618	GG,GT,TT		0.0366,17.1868,5.871	probably-damaging	183/409	114257381	730,11704	2115	4102	6217	SO:0001583	missense	200350	exon1			GGAGCCTGGACCC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.548T>G	2.37:g.114257381T>G	ENSP00000302756:p.Leu183Arg	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	174	82	0.471264	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	91	0.041666666666666664	90	0.18292682926829268	1	0.0027624309392265192	0	0.0	0	0.0	.	17.71	3.456701	0.63401	0.171868	3.66E-4	ENSG00000184492	ENST00000306507	D	0.97041	-4.22	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.27841	U	0.017640	T	0.15219	0.0367	M	0.93854	3.465	0.09310	P	0.99999539299	D	0.76494	0.999	D	0.81914	0.995	T	0.05886	-1.0858	9	0.87932	D	0	.	8.6531	0.34046	0.0:0.0:0.0:1.0	rs13428956	183	Q9NU39	FX4L1_HUMAN	R	183	ENSP00000302756:L183R	ENSP00000302756:L183R	L	+	2	0	FOXD4L1	113973851	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.431000	0.80335	1.190000	0.43042	0.155000	0.16302	CTG	T|0.973;G|0.027	0.027	strong		0.652	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		G	114257381	T	G	114257381	3	3	22	1	0	0	0	0	1	0	0	0	6000	1580	55	5	550	5	FOXD4L1	2	114257381	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	316379	114257381	128941992	1542	6650										
MARCO	8685	hgsc.bcm.edu	37	chr2	119739063	119739063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggggagtaaaggtgactTcgggaggccaggcccaccag	16	11	0	1	rs6761637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:119739063T>C	ENST00000327097.4	+	9	980	c.845T>C	c.(844-846)tTc>tCc	p.F282S	MARCO_ENST00000541757.1_Missense_Mutation_p.F204S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAAGGTGACTTCGGGAGGCCA	0.532													C|||	844	0.16853	0.3548	0.0476	5008	,	,		16791	0.123		0.0358	False		,,,				2504	0.1861				p.F282S	GBM(8;18 374 7467 11269 32796)	Atlas-SNP	.											MARCO,brain,glioma,0,1	MARCO	120	1	0			c.T845C						PASS	.	C	SER/PHE	1300,3106	690.3+/-405.2	199,902,1102	32	35	34		845	4.4	0	2	dbSNP_116	34	448,8152	796.4+/-407.5	13,422,3865	yes	missense	MARCO	NM_006770.3	155	212,1324,4967	CC,CT,TT		5.2093,29.5052,13.44	benign	282/521	119739063	1748,11258	2203	4300	6503	SO:0001583	missense	8685	exon9			GTGACTTCGGGAG	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.845T>C	2.37:g.119739063T>C	ENSP00000318916:p.Phe282Ser	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	55	23	0.418182	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	269	0.12316849816849818	145	0.29471544715447157	20	0.055248618784530384	72	0.1258741258741259	32	0.04221635883905013	C	3.494	-0.103147	0.06967	0.295052	0.052093	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93247	-1.68;-3.19	5.33	4.45	0.53987	.	0.611500	0.15982	N	0.235279	T	0.00012	0.0000	N	0.02403	-0.565	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08207	-1.0733	8	.	.	.	.	7.9847	0.30205	0.0:0.819:0.0:0.181	rs6761637;rs52807463;rs59619363;rs6761637	282	Q9UEW3	MARCO_HUMAN	S	282;282;204	ENSP00000318916:F282S;ENSP00000441769:F204S	.	F	+	2	0	MARCO	119455533	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	0.546000	0.23284	0.834000	0.34852	-0.119000	0.15052	TTC	T|0.873;C|0.127	0.127	strong		0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		C	119739063	T	C	119739063	3	2	22	1	0	0	0	0	1	0	0	0	9311	1783	62	2	879	2	MARCO	2	119739063	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5481682	119739063	123460310	1543	6651										
C1QL2	165257	hgsc.bcm.edu	37	chr2	119915750	119915750	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcagtgtaagggtcgcaGatcatgcggcaggtgcccat	16	10	1	1	rs113019193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:119915750G>T	ENST00000272520.3	-	1	715	c.96C>A	c.(94-96)atC>atA	p.I32I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	32					protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AAGGGTCGCAGATCATGCGGC	0.721										HNSCC(49;0.14)			G|||	87	0.0173722	0.0628	0.0043	5008	,	,		7998	0.0		0.001	False		,,,				2504	0.0				p.I32I		Atlas-SNP	.											.	C1QL2	25	.	0			c.C96A						PASS	.	G		134,3240		1,132,1554	6	7	7		96	3.3	1	2	dbSNP_132	7	8,7550		0,8,3771	no	coding-synonymous	C1QL2	NM_182528.3		1,140,5325	TT,TG,GG		0.1058,3.9715,1.2989		32/288	119915750	142,10790	1687	3779	5466	SO:0001819	synonymous_variant	165257	exon1			GTCGCAGATCATG	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.96C>A	2.37:g.119915750G>T		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_182528		Silent	SNP	ENST00000272520.3	37	CCDS42737.1																																																																																			G|0.981;T|0.019	0.019	strong		0.721	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		T	119915750	G	T	119915750	2	4	22	1	0	0	0	0	0	0	0	1	1959	932	33	4		4	C1QL2	2	119915750	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	176687	119915750	123283623	1544	6652										
TMEM37	6344	hgsc.bcm.edu	37	chr2	120194673	120194673	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatctgcttcagagacctggGccaggcccatgtgcccgggc	14	14	2	1	rs114197773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:120194673G>A	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.G77D|TMEM37_ENST00000409826.1_Missense_Mutation_p.G89D	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGACCTGGGCCAGGCCCAT	0.652													G|||	140	0.0279553	0.0976	0.0101	5008	,	,		14451	0.0		0.004	False		,,,				2504	0.0				p.G77D		Atlas-SNP	.											.	TMEM37	40	.	0			c.G230A						PASS	.	G	ASP/GLY	327,4077	168.3+/-199.2	12,303,1887	51	54	53		230	2.8	0.8	2	dbSNP_132	53	8,8590	6.4+/-24.3	0,8,4291	yes	missense	TMEM37	NM_183240.2	94	12,311,6178	AA,AG,GG		0.093,7.4251,2.5765	benign	77/191	120194673	335,12667	2202	4299	6501	SO:0001628	intergenic_variant	140738	exon2			ACCTGGGCCAGGC		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194673G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_183240	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	47	0.02152014652014652	41	0.08333333333333333	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	5.612	0.297674	0.10622	0.074251	9.3E-4	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.74	2.78	0.32641	.	0.572504	0.18041	N	0.153613	T	0.01387	0.0045	L	0.29908	0.895	0.09310	N	0.99999	B	0.21606	0.058	B	0.22601	0.04	T	0.06698	-1.0812	9	0.15499	T	0.54	-3.9992	8.7558	0.34645	0.2022:0.0:0.7978:0.0	.	77	Q8WXS4	CCGL_HUMAN	D	89;77	.	ENSP00000303148:G77D	G	+	2	0	TMEM37	119911143	0.094000	0.21725	0.818000	0.32626	0.630000	0.37929	0.340000	0.19892	1.234000	0.43709	0.561000	0.74099	GGC	G|0.973;A|0.027	0.027	strong		0.652	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			A	120194673	G	A	120194673	1	1	22	0	1	0	0	0	0	0	0	0	16155	1203	42	2		2	TMEM37	2	120194673	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	278923	120194673	123004700	1545	6653										
TFCP2L1	29842	hgsc.bcm.edu	37	chr2	121981950	121981950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggatgatgtggtagccAtcattgctctcagctgcaag	11	9	3	1	rs11890430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:121981950A>G	ENST00000263707.5	-	15	1504	c.1407T>C	c.(1405-1407)gaT>gaC	p.D469D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	469					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D469D(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGTGGTAGCCATCATTGCTCT	0.522													G|||	1822	0.363818	0.441	0.2997	5008	,	,		21888	0.2639		0.3101	False		,,,				2504	0.4632				p.D469D		Atlas-SNP	.											TFCP2L1,NS,carcinoma,0,1	TFCP2L1	54	1	1	Substitution - coding silent(1)	stomach(1)	c.T1407C						PASS	.	G		1816,2590	638.1+/-396.9	381,1054,768	96	80	86		1407	-4.7	0.9	2	dbSNP_120	86	2531,6069	692.0+/-404.6	370,1791,2139	no	coding-synonymous	TFCP2L1	NM_014553.2		751,2845,2907	GG,GA,AA		29.4302,41.2165,33.423		469/480	121981950	4347,8659	2203	4300	6503	SO:0001819	synonymous_variant	29842	exon15			GTAGCCATCATTG	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1407T>C	2.37:g.121981950A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_014553	Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																			A|0.666;G|0.334	0.334	strong		0.522	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		G	121981950	A	G	121981950	2	3	22	1	0	0	0	0	0	0	0	1	15793	214	8	2		2	TFCP2L1	2	121981950	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1787277	121981950	121217423	1546	6654										
CLASP1	23332	hgsc.bcm.edu	37	chr2	122216419	122216419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctataacatacttacccgAataattaacctaacagctac	3	12	0	0	rs2304560	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:122216419A>G	ENST00000263710.4	-	13	1700	c.1311T>C	c.(1309-1311)atT>atC	p.I437I	CLASP1_ENST00000455322.2_Silent_p.I437I|CLASP1_ENST00000541377.1_Silent_p.I437I|CLASP1_ENST00000545861.1_Silent_p.I205I|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000409078.3_Silent_p.I437I|CLASP1_ENST00000397587.3_Silent_p.I437I|CLASP1_ENST00000541859.1_Silent_p.I206I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	437					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACTTACCCGAATAATTAACC	0.338													A|||	1277	0.254992	0.5968	0.1369	5008	,	,		17301	0.131		0.0656	False		,,,				2504	0.1994				p.I437I		Atlas-SNP	.											.	CLASP1	135	.	0			c.T1311C						PASS	.	A	,,,	1798,1880		431,936,472	71	71	71		1311,1311,1311,1311	0.4	1	2	dbSNP_100	71	622,7570		15,592,3489	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	,,,	446,1528,3961	GG,GA,AA		7.5928,48.8853,20.3875	,,,	437/1480,437/1472,437/1478,437/1539	122216419	2420,9450	1839	4096	5935	SO:0001819	synonymous_variant	23332	exon13			TACCCGAATAATT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1311T>C	2.37:g.122216419A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001207051	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																				A|0.779;G|0.221	0.221	strong		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		G	122216419	A	G	122216419	2	3	22	1	0	0	0	0	0	0	0	1	3454	242	9	2		2	CLASP1	2	122216419	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	234469	122216419	120982954	1547	6655										
GYPC	2995	hgsc.bcm.edu	37	chr2	127453664	127453664	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagatgcagccctgcagggAgaccctgccctccaagatgc	12	15	0	3	rs1050967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:127453664A>C	ENST00000259254.4	+	4	664	c.333A>C	c.(331-333)ggA>ggC	p.G111G	GYPC_ENST00000409836.3_Silent_p.G92G|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Silent_p.G90G	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	111						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCTGCAGGGAGACCCTGCCC	0.552													C|||	3080	0.615016	0.7474	0.572	5008	,	,		20823	0.6806		0.5497	False		,,,				2504	0.4663				p.G111G	Melanoma(110;806 1600 6704 9981 33404)	Atlas-SNP	.											.	GYPC	27	.	0			c.A333C						PASS	.	C	,	3045,1361	452.2+/-349.9	1058,929,216	126	102	110		333,276	-9.6	0	2	dbSNP_86	110	4748,3852	542.4+/-384.2	1325,2098,877	no	coding-synonymous,coding-synonymous	GYPC	NM_002101.3,NM_016815.2	,	2383,3027,1093	CC,CA,AA		44.7907,30.8897,40.0815	,	111/129,92/110	127453664	7793,5213	2203	4300	6503	SO:0001819	synonymous_variant	2995	exon4			GCAGGGAGACCCT		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"CD molecules", "Blood group antigens"	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.333A>C	2.37:g.127453664A>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_002101	B2R522|Q53SV9|Q92642	Silent	SNP	ENST00000259254.4	37	CCDS2136.1																																																																																			A|0.405;C|0.595	0.595	strong		0.552	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		C	127453664	A	C	127453664	2	2	22	1	0	0	0	0	0	0	0	1	6910	291	11	5		5	GYPC	2	127453664	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5237245	127453664	115745709	1548	6656										
BIN1	274	hgsc.bcm.edu	37	chr2	127816695	127816695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggggagccatctggaggCgaagggctcttgttcccttt	15	10	2	0	rs2228955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:127816695C>T	ENST00000316724.5	-	11	1305	c.894G>A	c.(892-894)tcG>tcA	p.S298S	BIN1_ENST00000259238.4_Silent_p.S282S|BIN1_ENST00000393041.3_Silent_p.S267S|BIN1_ENST00000357970.3_Silent_p.S298S|BIN1_ENST00000351659.3_Silent_p.S298S|BIN1_ENST00000376113.2_Silent_p.S282S|BIN1_ENST00000393040.3_Silent_p.S267S|BIN1_ENST00000346226.3_Silent_p.S267S|BIN1_ENST00000348750.4_Silent_p.S267S|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000409400.1_Silent_p.S267S|BIN1_ENST00000352848.3_Silent_p.S282S	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	298					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CATCTGGAGGCGAAGGGCTCT	0.692													c|||	450	0.0898562	0.0189	0.1311	5008	,	,		11348	0.1587		0.0417	False		,,,				2504	0.135				p.S298S		Atlas-SNP	.											BIN1_ENST00000259238,colon,carcinoma,0,2	BIN1	85	2	0			c.G894A						PASS	.	T	,,,,,,,,,	55,4347		1,53,2147	23	29	27		846,894,894,894,846,801,801,801,801,801	-9.9	0	2	dbSNP_131	27	169,8421		2,165,4128	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BIN1	NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2	,,,,,,,,,	3,218,6275	TT,TC,CC		1.9674,1.2494,1.7241	,,,,,,,,,	282/455,298/594,298/551,298/507,282/498,267/519,267/483,267/476,267/440,267/410	127816695	224,12768	2201	4295	6496	SO:0001819	synonymous_variant	274	exon11			TGGAGGCGAAGGG	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.894G>A	2.37:g.127816695C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_139345	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																			T|0.033;G|0.270;C|0.678;A|0.019	0.033	strong		0.692	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127816695	C	T	127816695	2	4	22	1	0	0	0	0	0	0	0	1	1432	755	27	1		1	BIN1	2	127816695	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	363031	127816695	115382678	1549	6657										
BIN1	274	hgsc.bcm.edu	37	chr2	127821207	127821207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctctggaacgtgttgacGtagaaacctacgcggctaca	11	10	1	2	rs1137845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:127821207G>A	ENST00000316724.5	-	9	1125	c.714C>T	c.(712-714)taC>taT	p.Y238Y	BIN1_ENST00000259238.4_Silent_p.Y207Y|BIN1_ENST00000393041.3_Silent_p.Y207Y|BIN1_ENST00000357970.3_Silent_p.Y238Y|BIN1_ENST00000351659.3_Silent_p.Y238Y|BIN1_ENST00000376113.2_Silent_p.Y207Y|BIN1_ENST00000393040.3_Silent_p.Y207Y|BIN1_ENST00000346226.3_Silent_p.Y207Y|BIN1_ENST00000348750.4_Silent_p.Y207Y|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000409400.1_Silent_p.Y207Y|BIN1_ENST00000352848.3_Silent_p.Y207Y	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	238	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGTGTTGACGTAGAAACCTA	0.607													G|||	483	0.0964457	0.0227	0.1383	5008	,	,		19365	0.1508		0.0457	False		,,,				2504	0.1626				p.Y238Y		Atlas-SNP	.											.	BIN1	85	.	0			c.C714T						PASS	.	G	,,,,,,,,,	70,4336	64.7+/-102.0	0,70,2133	80	65	70		621,714,714,714,621,621,621,621,621,621	-9.3	0.4	2	dbSNP_86	70	248,8352	98.4+/-159.9	6,236,4058	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BIN1	NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2	,,,,,,,,,	6,306,6191	AA,AG,GG		2.8837,1.5887,2.445	,,,,,,,,,	207/455,238/594,238/551,238/507,207/498,207/519,207/483,207/476,207/440,207/410	127821207	318,12688	2203	4300	6503	SO:0001819	synonymous_variant	274	exon9			GTTGACGTAGAAA	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.714C>T	2.37:g.127821207G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	101	52	0.514852	NM_139345	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																			G|0.772;T|0.015	.	strong		0.607	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		A	127821207	G	A	127821207	2	1	22	1	0	0	0	0	0	0	0	1	1432	1140	40	1		1	BIN1	2	127821207	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4512	127821207	115378166	1550	6658										
BIN1	274	hgsc.bcm.edu	37	chr2	127827598	127827598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggggaactggcccaggtaCgtgtccatggtcagcagcgc	15	12	1	0	rs61748158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:127827598C>T	ENST00000316724.5	-	5	795	c.384G>A	c.(382-384)acG>acA	p.T128T	BIN1_ENST00000259238.4_Silent_p.T128T|BIN1_ENST00000393041.3_Silent_p.T128T|BIN1_ENST00000357970.3_Silent_p.T128T|BIN1_ENST00000351659.3_Silent_p.T128T|BIN1_ENST00000376113.2_Silent_p.T128T|BIN1_ENST00000393040.3_Silent_p.T128T|BIN1_ENST00000346226.3_Silent_p.T128T|BIN1_ENST00000348750.4_Silent_p.T128T|BIN1_ENST00000409400.1_Silent_p.T128T|BIN1_ENST00000352848.3_Silent_p.T128T	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	128	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCCCAGGTACGTGTCCATGG	0.597													C|||	18	0.00359425	0.0106	0.0014	5008	,	,		19793	0.003		0.0	False		,,,				2504	0.0				p.T128T		Atlas-SNP	.											.	BIN1	85	.	0			c.G384A						PASS	.	C	,,,,,,,,,	24,4382		0,24,2179	138	108	118		384,384,384,384,384,384,384,384,384,384	-9.6	0.6	2	dbSNP_129	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BIN1	NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2	,,,,,,,,,	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	,,,,,,,,,	128/455,128/594,128/551,128/507,128/498,128/519,128/483,128/476,128/440,128/410	127827598	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	274	exon5			CAGGTACGTGTCC	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.384G>A	2.37:g.127827598C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_139346	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																			C|0.998;T|0.002	0.002	strong		0.597	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127827598	C	T	127827598	2	4	22	1	0	0	0	0	0	0	0	1	1432	523	19	1		1	BIN1	2	127827598	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6391	127827598	115371775	1551	6659										
CYP27C1	339761	hgsc.bcm.edu	37	chr2	127953054	127953054	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccttgccaggaggtacacAgtccaagacaaggtgaagga	13	9	0	2	rs7568070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:127953054A>C	ENST00000335247.7	-	5	706	c.576T>G	c.(574-576)acT>acG	p.T192T	CYP27C1_ENST00000409327.1_Silent_p.T192T	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	192						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.T192T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGAGGTACACAGTCCAAGACA	0.542													C|||	1399	0.279353	0.4644	0.1499	5008	,	,		17596	0.1141		0.2664	False		,,,				2504	0.3047				p.T192T		Atlas-SNP	.											CYP27C1,NS,carcinoma,0,1	CYP27C1	52	1	1	Substitution - coding silent(1)	stomach(1)	c.T576G						PASS	.	C		1929,2477	624.5+/-394.3	419,1091,693	87	74	79		576	-8.9	0.2	2	dbSNP_116	79	2374,6226	701.5+/-405.2	334,1706,2260	no	coding-synonymous	CYP27C1	NM_001001665.3		753,2797,2953	CC,CA,AA		27.6047,43.7812,33.0847		192/373	127953054	4303,8703	2203	4300	6503	SO:0001819	synonymous_variant	339761	exon5			GTACACAGTCCAA	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.576T>G	2.37:g.127953054A>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	159	85	0.534591	NM_001001665	Q6ZNI7	Silent	SNP	ENST00000335247.7	37	CCDS33285.1																																																																																			A|0.696;C|0.304	0.304	strong		0.542	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		C	127953054	A	C	127953054	2	2	22	1	0	0	0	0	0	0	0	1	4160	175	7	5		5	CYP27C1	2	127953054	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	125456	127953054	115246319	1552	6660										
MAP3K2	10746	hgsc.bcm.edu	37	chr2	128075319	128075319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagcaactgaatttcacaCtcaagtgcatttacttcctg	5	11	3	1	rs11899533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128075319C>T	ENST00000409947.1	-	14	1494	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Silent_p.E404E			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GAATTTCACACTCAAGTGCAT	0.358													C|||	83	0.0165735	0.059	0.0058	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.001				p.E404E		Atlas-SNP	.											.	MAP3K2	78	.	0			c.G1212A						PASS	.	C		218,3466		6,206,1630	55	52	53		1212	-1.5	0.9	2	dbSNP_120	53	1,8183		0,1,4091	no	coding-synonymous	MAP3K2	NM_006609.4		6,207,5721	TT,TC,CC		0.0122,5.9175,1.8453		404/620	128075319	219,11649	1842	4092	5934	SO:0001819	synonymous_variant	10746	exon13			TTCACACTCAAGT	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1212G>A	2.37:g.128075319C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	CCDS46404.1																																																																																			C|0.981;T|0.019	0.019	strong		0.358	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		T	128075319	C	T	128075319	2	4	22	1	0	0	0	0	0	0	0	1	9250	564	20	2		2	MAP3K2	2	128075319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122265	128075319	115124054	1553	6661										
IWS1	55677	hgsc.bcm.edu	37	chr2	128261099	128261099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcctgacttgtctgataCagcatcactgtcagagtcat	8	10	4	3	rs34785867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128261099C>T	ENST00000295321.4	-	4	1532	c.1273G>A	c.(1273-1275)Gta>Ata	p.V425I	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.V432I	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	425	Glu-rich.		V -> I (in dbSNP:rs34785867).		mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTGTCTGATACAGCATCACTG	0.383													C|||	98	0.0195687	0.0711	0.0058	5008	,	,		15170	0.0		0.0	False		,,,				2504	0.0				p.V425I		Atlas-SNP	.											.	IWS1	61	.	0			c.G1273A						PASS	.	C	ILE/VAL	309,4097	167.3+/-198.3	10,289,1904	128	111	117		1273	-6.2	0	2	dbSNP_126	117	2,8598	1.2+/-3.3	0,2,4298	yes	missense	IWS1	NM_017969.2	29	10,291,6202	TT,TC,CC		0.0233,7.0132,2.3912	benign	425/820	128261099	311,12695	2203	4300	6503	SO:0001583	missense	55677	exon4			CTGATACAGCATC	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1273G>A	2.37:g.128261099C>T	ENSP00000295321:p.Val425Ile	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	185	184	0.994595	NM_017969	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	C	10.39	1.337907	0.24253	0.070132	2.33E-4	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.31247	2.33;1.5	5.67	-6.15	0.02105	.	1.260290	0.05632	N	0.581936	T	0.01124	0.0037	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	10	0.37606	T	0.19	0.5854	9.4352	0.38635	0.1086:0.6567:0.1211:0.1136	rs34785867	425	Q96ST2	IWS1_HUMAN	I	425;378;432	ENSP00000295321:V425I;ENSP00000399245:V432I	ENSP00000295321:V425I	V	-	1	0	IWS1	127977569	0.000000	0.05858	0.003000	0.11579	0.981000	0.71138	-0.215000	0.09279	-1.101000	0.03027	-0.793000	0.03317	GTA	C|0.977;T|0.023	0.023	strong		0.383	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		T	128261099	C	T	128261099	3	4	22	1	0	0	0	0	1	0	0	0	7931	478	17	2	1230	2	IWS1	2	128261099	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	185780	128261099	114938274	1554	6662										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128341904	128341904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgaagaaagccgcttcccGcaggtgtgtgttcgggcctg	15	11	0	1	rs61743462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128341904G>A	ENST00000409816.2	+	12	1583	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	MYO7B_ENST00000389524.4_Silent_p.P517P|MYO7B_ENST00000428314.1_Silent_p.P517P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	517	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCGCTTCCCGCAGGTGTGTG	0.602													G|||	54	0.0107827	0.0393	0.0029	5008	,	,		18661	0.0		0.0	False		,,,				2504	0.0				p.P517P		Atlas-SNP	.											.	MYO7B	359	.	0			c.G1551A						PASS	.	G		144,3842		1,142,1850	55	59	57		1551	-6.6	0.9	2	dbSNP_129	57	1,8289		0,1,4144	no	coding-synonymous	MYO7B	NM_001080527.1		1,143,5994	AA,AG,GG		0.0121,3.6126,1.1812		517/2117	128341904	145,12131	1993	4145	6138	SO:0001819	synonymous_variant	4648	exon13			CTTCCCGCAGGTG		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1551G>A	2.37:g.128341904G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_001080527	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																			G|0.993;A|0.007	0.007	strong		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128341904	G	A	128341904	2	1	22	1	0	0	0	0	0	0	0	1	10083	1074	38	1		1	MYO7B	2	128341904	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80805	128341904	114857469	1555	6663										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128364787	128364787	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgcctccgcagatcctcGtgggctttgagcgcctgcag	12	14	1	2	rs201386852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128364787G>C	ENST00000409816.2	+	20	2463	c.2431G>C	c.(2431-2433)Gtg>Ctg	p.V811L	MYO7B_ENST00000389524.4_Missense_Mutation_p.V811L|MYO7B_ENST00000428314.1_Missense_Mutation_p.V811L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	811	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGATCCTCGTGGGCTTTGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17201	0.0		0.0	False		,,,				2504	0.0				p.V811L		Atlas-SNP	.											.	MYO7B	359	.	0			c.G2431C						PASS	.	G	LEU/VAL	8,3810		0,8,1901	7	9	8		2431	-6.2	0.1	2		8	0,7854		0,0,3927	yes	missense	MYO7B	NM_001080527.1	32	0,8,5828	CC,CG,GG		0.0,0.2095,0.0685	benign	811/2117	128364787	8,11664	1909	3927	5836	SO:0001583	missense	4648	exon21			ATCCTCGTGGGCT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2431G>C	2.37:g.128364787G>C	ENSP00000386461:p.Val811Leu	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	180	93	0.516667	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	4.550	0.102047	0.08731	0.002095	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86627	-2.15;-2.15;-2.15	5.6	-6.22	0.02058	.	0.757314	0.11581	N	0.549776	T	0.52901	0.1763	N	0.01352	-0.895	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.59177	-0.7503	10	0.07990	T	0.79	.	1.1174	0.01717	0.1671:0.2857:0.2377:0.3095	.	811	Q6PIF6	MYO7B_HUMAN	L	811	ENSP00000374175:V811L;ENSP00000415090:V811L;ENSP00000386461:V811L	ENSP00000374175:V811L	V	+	1	0	MYO7B	128081257	0.000000	0.05858	0.057000	0.19452	0.727000	0.41649	-0.731000	0.04909	-1.131000	0.02910	-0.344000	0.07964	GTG	.	.	weak		0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		C	128364787	G	C	128364787	3	2	22	1	0	0	0	0	1	0	0	0	10083	1145	40	4	2509	4	MYO7B	2	128364787	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22883	128364787	114834586	1556	6664										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128367092	128367092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccgtaggatctggaatcGaagacccagaagctgcttga	13	9	1	3	rs777432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128367092G>A	ENST00000409816.2	+	22	2858	c.2826G>A	c.(2824-2826)tcG>tcA	p.S942S	MYO7B_ENST00000389524.4_Silent_p.S942S|MYO7B_ENST00000428314.1_Silent_p.S942S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	942						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATCTGGAATCGAAGACCCAGA	0.597													A|||	1608	0.321086	0.3661	0.2478	5008	,	,		19290	0.1319		0.3857	False		,,,				2504	0.4407				p.S942S		Atlas-SNP	.											MYO7B_ENST00000428314,colon,carcinoma,0,2	MYO7B	359	2	0			c.G2826A						PASS	.	A		1392,2710		242,908,901	36	42	40		2826	-6.9	0	2	dbSNP_86	40	2971,5405		527,1917,1744	no	coding-synonymous	MYO7B	NM_001080527.1		769,2825,2645	AA,AG,GG		35.4704,33.9347,34.9655		942/2117	128367092	4363,8115	2051	4188	6239	SO:0001819	synonymous_variant	4648	exon23			GGAATCGAAGACC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2826G>A	2.37:g.128367092G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	114	51	0.447368	NM_001080527	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																			G|0.692;A|0.308	0.308	strong		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367092	G	A	128367092	2	1	22	1	0	0	0	0	0	0	0	1	10083	1045	37	1		1	MYO7B	2	128367092	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2305	128367092	114832281	1557	6665										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128367433	128367433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttccccaggccgccctgGtcatatggaacgtcatcctg	10	14	2	0	rs61741454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128367433G>A	ENST00000409816.2	+	23	3066	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	MYO7B_ENST00000389524.4_Missense_Mutation_p.V1012I|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1012I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1012	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCGCCCTGGTCATATGGAA	0.592													G|||	36	0.0071885	0.0234	0.0072	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0				p.V1012I		Atlas-SNP	.											.	MYO7B	359	.	0			c.G3034A						PASS	.	G	ILE/VAL	91,4015		2,87,1964	48	52	51		3034	2.6	0	2	dbSNP_129	51	2,8426		0,2,4212	yes	missense	MYO7B	NM_001080527.1	29	2,89,6176	AA,AG,GG		0.0237,2.2163,0.742	benign	1012/2117	128367433	93,12441	2053	4214	6267	SO:0001583	missense	4648	exon24			GCCCTGGTCATAT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3034G>A	2.37:g.128367433G>A	ENSP00000386461:p.Val1012Ile	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	203	105	0.517241	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	12	0.005494505494505495	9	0.018292682926829267	3	0.008287292817679558	0	0.0	0	0.0	G	8.417	0.845525	0.16963	0.022163	2.37E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87103	-2.21;-2.21;-2.21	5.47	2.57	0.30868	MyTH4 domain (2);	0.485163	0.20625	N	0.088698	T	0.62122	0.2402	N	0.17474	0.49	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.63328	-0.6662	10	0.72032	D	0.01	.	8.5581	0.33494	0.1397:0.1265:0.7338:0.0	rs61741454	1012	Q6PIF6	MYO7B_HUMAN	I	1012	ENSP00000374175:V1012I;ENSP00000415090:V1012I;ENSP00000386461:V1012I	ENSP00000374175:V1012I	V	+	1	0	MYO7B	128083903	0.888000	0.30383	0.039000	0.18376	0.011000	0.07611	2.293000	0.43558	0.678000	0.31325	0.655000	0.94253	GTC	G|0.993;A|0.007	0.007	strong		0.592	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367433	G	A	128367433	3	1	22	1	0	0	0	0	1	0	0	0	10083	1261	44	2	3124	2	MYO7B	2	128367433	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	341	128367433	114831940	1558	6666										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128367556	128367556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacgctgggcagggagcacGgtgcccaggttccacagcac	14	14	0	0	rs199654311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128367556G>A	ENST00000409816.2	+	23	3189	c.3157G>A	c.(3157-3159)Ggt>Agt	p.G1053S	MYO7B_ENST00000428314.1_Missense_Mutation_p.G1053S|MYO7B_ENST00000389524.4_Missense_Mutation_p.G1053S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1053	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGGGAGCACGGTGCCCAGGT	0.642													G|||	13	0.00259585	0.0098	0.0	5008	,	,		17986	0.0		0.0	False		,,,				2504	0.0				p.G1053S		Atlas-SNP	.											.	MYO7B	359	.	0			c.G3157A						PASS	.	G	SER/GLY	32,4284		0,32,2126	29	33	32		3157	-6.9	0	2		32	0,8518		0,0,4259	yes	missense	MYO7B	NM_001080527.1	56	0,32,6385	AA,AG,GG		0.0,0.7414,0.2493	benign	1053/2117	128367556	32,12802	2158	4259	6417	SO:0001583	missense	4648	exon24			GAGCACGGTGCCC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3157G>A	2.37:g.128367556G>A	ENSP00000386461:p.Gly1053Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	8.095	0.775454	0.16051	0.007414	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86164	-2.08;-2.08;-2.08	5.17	-6.92	0.01644	MyTH4 domain (2);	1.887620	0.02507	N	0.091055	T	0.52885	0.1762	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.64101	-0.6486	10	0.07030	T	0.85	.	10.025	0.42066	0.4891:0.1097:0.4012:0.0	.	1053	Q6PIF6	MYO7B_HUMAN	S	1053	ENSP00000374175:G1053S;ENSP00000415090:G1053S;ENSP00000386461:G1053S	ENSP00000374175:G1053S	G	+	1	0	MYO7B	128084026	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.438000	0.06905	-1.703000	0.01409	-0.140000	0.14226	GGT	G|0.999;A|0.001	0.001	strong		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367556	G	A	128367556	3	1	22	1	0	0	0	0	1	0	0	0	10083	1116	39	1	3247	1	MYO7B	2	128367556	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	123	128367556	114831817	1559	6667										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128378009	128378009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgctcagcctctgcctcGgctgcttcccaccctcagag	8	19	3	1	rs199900811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128378009G>A	ENST00000409816.2	+	25	3447	c.3415G>A	c.(3415-3417)Ggc>Agc	p.G1139S	MYO7B_ENST00000428314.1_Missense_Mutation_p.G1139S|MYO7B_ENST00000389524.4_Missense_Mutation_p.G1139S|MYO7B_ENST00000409090.1_5'UTR			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1139	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCTGCCTCGGCTGCTTCCC	0.607													G|||	13	0.00259585	0.0098	0.0	5008	,	,		14187	0.0		0.0	False		,,,				2504	0.0				p.G1139S		Atlas-SNP	.											.	MYO7B	359	.	0			c.G3415A						PASS	.	G	SER/GLY	30,3642		0,30,1806	33	36	35		3415	4.2	1	2		35	0,8174		0,0,4087	yes	missense	MYO7B	NM_001080527.1	56	0,30,5893	AA,AG,GG		0.0,0.817,0.2533	probably-damaging	1139/2117	128378009	30,11816	1836	4087	5923	SO:0001583	missense	4648	exon26			TGCCTCGGCTGCT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3415G>A	2.37:g.128378009G>A	ENSP00000386461:p.Gly1139Ser	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	236	120	0.508475	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	6	0.0027472527472527475	2	0.0040650406504065045	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	.	26.3	4.726017	0.89298	0.00817	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.91407	-2.84;-2.84;-2.84	4.16	4.16	0.48862	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	L	0.48986	1.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89742	0.3934	10	0.25106	T	0.35	.	17.0488	0.86513	0.0:0.0:1.0:0.0	.	1139	Q6PIF6	MYO7B_HUMAN	S	1139	ENSP00000374175:G1139S;ENSP00000415090:G1139S;ENSP00000386461:G1139S	ENSP00000374175:G1139S	G	+	1	0	MYO7B	128094479	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.993000	0.93524	2.318000	0.78349	0.456000	0.33151	GGC	G|0.997;A|0.003	0.003	strong		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128378009	G	A	128378009	3	1	22	1	0	0	0	0	1	0	0	0	10083	1116	39	1	3513	1	MYO7B	2	128378009	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10453	128378009	114821364	1560	6668										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128381717	128381717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatggatgccatcgcccGgtgtgagcagatggcccagg	15	11	0	3	rs2245408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128381717G>A	ENST00000409816.2	+	28	3823	c.3791G>A	c.(3790-3792)cGg>cAg	p.R1264Q	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.R117Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1264Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1264Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1264	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.		R -> Q (in dbSNP:rs2245408).			extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCATCGCCCGGTGTGAGCAG	0.667													A|||	64	0.0127796	0.0439	0.0086	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.0				p.R1264Q		Atlas-SNP	.											.	MYO7B	359	.	0			c.G3791A						PASS	.	A	GLN/ARG	141,3873		2,137,1868	21	26	25		3791	3.8	1	2	dbSNP_100	25	2,8324		0,2,4161	yes	missense	MYO7B	NM_001080527.1	43	2,139,6029	AA,AG,GG		0.024,3.5127,1.1588	benign	1264/2117	128381717	143,12197	2007	4163	6170	SO:0001583	missense	4648	exon29			TCGCCCGGTGTGA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3791G>A	2.37:g.128381717G>A	ENSP00000386461:p.Arg1264Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	22	0.010073260073260074	19	0.03861788617886179	3	0.008287292817679558	0	0.0	0	0.0	.	9.528	1.110073	0.20714	0.035127	2.4E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	3.76	3.76	0.43208	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	N	0.000000	T	0.09247	0.0228	N	0.00084	-2.21	0.22562	N	0.998982	B	0.02656	0.0	B	0.01281	0.0	T	0.38308	-0.9667	10	0.02654	T	1	.	9.5173	0.39113	0.9119:0.0:0.0881:0.0	rs2245408;rs2245408	1264	Q6PIF6	MYO7B_HUMAN	Q	1264;1264;117;1264;117;117	ENSP00000374175:R1264Q;ENSP00000415090:R1264Q;ENSP00000386461:R1264Q;ENSP00000404927:R117Q;ENSP00000386850:R117Q	ENSP00000272666:R117Q	R	+	2	0	MYO7B	128098187	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.758000	0.62220	0.809000	0.34255	-0.490000	0.04691	CGG	G|0.990;A|0.010	0.010	strong		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128381717	G	A	128381717	3	1	22	1	0	0	0	0	1	0	0	0	10083	1116	39	1	3901	1	MYO7B	2	128381717	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3708	128381717	114817656	1561	6669										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128381861	128381861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttaccgccaagtcctccGaggagtctggtctggcgagt	12	11	2	0	rs61743523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128381861G>A	ENST00000409816.2	+	28	3967	c.3935G>A	c.(3934-3936)cGa>cAa	p.R1312Q	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.R165Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1312Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1312Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1312	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAGTCCTCCGAGGAGTCTGG	0.592													A|||	36	0.0071885	0.0234	0.0072	5008	,	,		19505	0.0		0.0	False		,,,				2504	0.0				p.R1312Q		Atlas-SNP	.											.	MYO7B	359	.	0			c.G3935A						PASS	.	A	GLN/ARG	82,3886		2,78,1904	15	16	16		3935	-0.1	0.1	2	dbSNP_129	16	2,8290		0,2,4144	yes	missense	MYO7B	NM_001080527.1	43	2,80,6048	AA,AG,GG		0.0241,2.0665,0.6852	benign	1312/2117	128381861	84,12176	1984	4146	6130	SO:0001583	missense	4648	exon29			TCCTCCGAGGAGT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3935G>A	2.37:g.128381861G>A	ENSP00000386461:p.Arg1312Gln	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	40	0.540541	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	12	0.005494505494505495	9	0.018292682926829267	3	0.008287292817679558	0	0.0	0	0.0	.	13.32	2.200829	0.38905	0.020665	2.41E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.6;-0.89	3.68	-0.0642	0.13773	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.715826	0.13724	N	0.367181	T	0.49236	0.1545	M	0.79258	2.445	0.21579	N	0.999633	P	0.42337	0.776	B	0.32465	0.146	T	0.49995	-0.8879	10	0.38643	T	0.18	.	5.7748	0.18273	0.2859:0.0:0.5394:0.1747	rs61743523	1312	Q6PIF6	MYO7B_HUMAN	Q	1312;1312;165;1312;165;165	ENSP00000374175:R1312Q;ENSP00000415090:R1312Q;ENSP00000386461:R1312Q;ENSP00000404927:R165Q;ENSP00000386850:R165Q	ENSP00000272666:R165Q	R	+	2	0	MYO7B	128098331	0.985000	0.35326	0.083000	0.20561	0.098000	0.18820	2.232000	0.43018	-0.259000	0.09432	-0.361000	0.07541	CGA	G|0.993;A|0.007	0.007	strong		0.592	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128381861	G	A	128381861	3	1	22	1	0	0	0	0	1	0	0	0	10083	1058	37	1	4045	1	MYO7B	2	128381861	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	144	128381861	114817512	1562	6670										
GPR17	2840	hgsc.bcm.edu	37	chr2	128408747	128408747	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaagctccgcaggcccctCtacgcacacctggcctgtgc	9	19	2	0	rs34722685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128408747C>A	ENST00000272644.3	+	3	596	c.522C>A	c.(520-522)ctC>ctA	p.L174L	LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000544369.1_Silent_p.L174L|GPR17_ENST00000393018.3_Silent_p.L174L|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000410038.1_5'Flank	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	174					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GCAGGCCCCTCTACGCACACC	0.637													C|||	70	0.0139776	0.0499	0.0058	5008	,	,		18872	0.0		0.0	False		,,,				2504	0.0				p.L174L		Atlas-SNP	.											.	GPR17	56	.	0			c.C522A						PASS	.	C	,,,,,,,	158,4248	106.5+/-144.9	2,154,2047	112	99	103		,,,522,438,438,522,	3.6	1	2	dbSNP_126	103	1,8599		0,1,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	2,155,6346	AA,AC,CC		0.0116,3.586,1.2225	,,,,,,,	,,,174/368,146/340,146/340,174/368,	128408747	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	2840	exon3			GCCCCTCTACGCA		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.522C>A	2.37:g.128408747C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_005291	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	CCDS2148.1																																																																																			C|0.985;A|0.015	0.015	strong		0.637	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			A	128408747	C	A	128408747	2	1	22	1	0	0	0	0	0	0	0	1	6667	900	32	4		4	GPR17	2	128408747	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26886	128408747	114790626	1563	6671										
SAP130	79595	hgsc.bcm.edu	37	chr2	128767929	128767929	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacagttgctaccacagcAggagggatggcattggaggt	16	7	0	1	rs35775122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128767929A>G	ENST00000259235.3	-	7	990	c.861T>C	c.(859-861)ccT>ccC	p.P287P	SAP130_ENST00000357702.5_Silent_p.P287P|SAP130_ENST00000259234.6_Silent_p.P261P	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	287					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTACCACAGCAGGAGGGATGG	0.463													A|||	146	0.0291534	0.1014	0.0144	5008	,	,		17514	0.0		0.002	False		,,,				2504	0.0				p.P287P		Atlas-SNP	.											.	SAP130	169	.	0			c.T861C						PASS	.	A	,	433,3973	209.5+/-230.2	23,387,1793	116	104	108		861,861	3.2	1	2	dbSNP_126	108	20,8580	13.3+/-46.6	0,20,4280	no	coding-synonymous,coding-synonymous	SAP130	NM_001145928.1,NM_024545.3	,	23,407,6073	GG,GA,AA		0.2326,9.8275,3.483	,	287/1084,287/1049	128767929	453,12553	2203	4300	6503	SO:0001819	synonymous_variant	79595	exon7			CACAGCAGGAGGG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.861T>C	2.37:g.128767929A>G		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	CCDS2153.1																																																																																			A|0.972;G|0.028	0.028	strong		0.463	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		G	128767929	A	G	128767929	2	3	22	1	0	0	0	0	0	0	0	1	13831	175	7	3		3	SAP130	2	128767929	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	359182	128767929	114431444	1564	6672										
SAP130	79595	hgsc.bcm.edu	37	chr2	128775464	128775464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctccctggcactgacttcAgaatctcgaccagattcatc	7	14	3	3	rs6430968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128775464A>G	ENST00000259235.3	-	3	345	c.216T>C	c.(214-216)tcT>tcC	p.S72S	SAP130_ENST00000357702.5_Silent_p.S72S|SAP130_ENST00000259234.6_Silent_p.S46S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	72					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CACTGACTTCAGAATCTCGAC	0.502													A|||	184	0.0367412	0.1293	0.0159	5008	,	,		21218	0.0		0.002	False		,,,				2504	0.0				p.S72S		Atlas-SNP	.											.	SAP130	169	.	0			c.T216C						PASS	.	A	,	551,3855	247.5+/-255.7	37,477,1689	78	70	72		216,216	-1.2	1	2	dbSNP_116	72	20,8580	13.3+/-46.6	0,20,4280	yes	coding-synonymous,coding-synonymous	SAP130	NM_001145928.1,NM_024545.3	,	37,497,5969	GG,GA,AA		0.2326,12.5057,4.3903	,	72/1084,72/1049	128775464	571,12435	2203	4300	6503	SO:0001819	synonymous_variant	79595	exon3			GACTTCAGAATCT	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.216T>C	2.37:g.128775464A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	CCDS2153.1																																																																																			A|0.965;G|0.035	0.035	strong		0.502	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		G	128775464	A	G	128775464	2	3	22	1	0	0	0	0	0	0	0	1	13831	175	7	3		3	SAP130	2	128775464	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7535	128775464	114423909	1565	6673										
UGGT1	56886	hgsc.bcm.edu	37	chr2	128870784	128870784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaccgccagcttatatcAaaaagcaatgcaggcaaaat	6	10	2	0	rs149605444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128870784A>G	ENST00000259253.6	+	6	695	c.648A>G	c.(646-648)tcA>tcG	p.S216S	UGGT1_ENST00000375990.3_Silent_p.S192S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	216					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTATATCAAAAAGCAATG	0.353													A|||	25	0.00499201	0.0189	0.0	5008	,	,		15033	0.0		0.0	False		,,,				2504	0.0				p.S216S		Atlas-SNP	.											.	UGGT1	126	.	0			c.A648G						PASS	.	A		64,4342	58.1+/-94.6	1,62,2140	71	74	73		648	-1.1	0.1	2	dbSNP_134	73	0,8598		0,0,4299	no	coding-synonymous	UGGT1	NM_020120.3		1,62,6439	GG,GA,AA		0.0,1.4526,0.4922		216/1556	128870784	64,12940	2203	4299	6502	SO:0001819	synonymous_variant	56886	exon6			TATATCAAAAAGC	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.648A>G	2.37:g.128870784A>G		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	290	132	0.455172	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																			A|0.995;G|0.005	0.005	strong		0.353	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		G	128870784	A	G	128870784	2	3	22	1	0	0	0	0	0	0	0	1	16938	117	5	2		2	UGGT1	2	128870784	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	95320	128870784	114328589	1566	6674										
UGGT1	56886	hgsc.bcm.edu	37	chr2	128939817	128939817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacggctacaggttctggaaGtcagggtactgggccagtca	15	9	3	0	rs1699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:128939817G>A	ENST00000259253.6	+	37	4244	c.4197G>A	c.(4195-4197)aaG>aaA	p.K1399K	UGGT1_ENST00000375990.3_Silent_p.K1375K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1399	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGTTCTGGAAGTCAGGGTACT	0.438													G|||	2143	0.427915	0.4198	0.3775	5008	,	,		18387	0.3224		0.4105	False		,,,				2504	0.6012				p.K1399K		Atlas-SNP	.											.	UGGT1	126	.	0			c.G4197A						PASS	.	G		1781,2625	525.2+/-371.5	373,1035,795	100	102	102		4197	4.5	1	2	dbSNP_36	102	3664,4936	526.4+/-380.9	777,2110,1413	no	coding-synonymous	UGGT1	NM_020120.3		1150,3145,2208	AA,AG,GG		42.6047,40.4222,41.8653		1399/1556	128939817	5445,7561	2203	4300	6503	SO:0001819	synonymous_variant	56886	exon37			CTGGAAGTCAGGG	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4197G>A	2.37:g.128939817G>A		Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	178	178	1	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																			G|0.589;A|0.411	0.411	strong		0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128939817	G	A	128939817	2	1	22	1	0	0	0	0	0	0	0	1	16938	1020	36	2		2	UGGT1	2	128939817	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69033	128939817	114259556	1567	6675										
POTEF	728378	hgsc.bcm.edu	37	chr2	130872871	130872871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttttactacttctgaattCccattggcagaggccagatg	9	9	1	3	rs199770435		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000361163.4_Silent_p.G184G|POTEF_ENST00000357462.5_Silent_p.G184G|POTEF_ENST00000360967.5_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTGAATTCCCATTGGCAG	0.423																																					p.G184G		Atlas-SNP	.											POTEF,NS,carcinoma,0,5	POTEF	140	5	2	Substitution - coding silent(2)	prostate(2)	c.G552A						scavenged	.						45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378	exon4			TGAATTCCCATTG	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.552G>A	2.37:g.130872871C>T		Somatic	724	1	0.00138122		WXS	Illumina HiSeq	Phase_I	720	25	0.0347222	NM_001099771	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																			C|0.998;T|0.002	0.002	weak		0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	22	1	0	0	0	0	0	0	0	1	12265	842	30	2		2	POTEF	2	130872871	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1933054	130872871	112326502	1568	6676										
TUBA3E	112714	hgsc.bcm.edu	37	chr2	130951488	130951488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggccatgtacttgccAtggcgagggtcacacttgac	12	12	1	1	rs2443644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:130951488A>G	ENST00000312988.7	-	4	1027	c.927T>C	c.(925-927)caT>caC	p.H309H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	309					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGTACTTGCCATGGCGAGGGT	0.577																																					p.H309H		Atlas-SNP	.											TUBA3E,right_upper_lobe,carcinoma,-1,1	TUBA3E	73	1	0			c.T927C						scavenged	.						155	139	145					2																	130951488		2203	4300	6503	SO:0001819	synonymous_variant	112714	exon4			CTTGCCATGGCGA	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.927T>C	2.37:g.130951488A>G		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	282	63	0.223404	NM_207312		Silent	SNP	ENST00000312988.7	37	CCDS2158.1																																																																																			A|0.985;G|0.015	0.015	strong		0.577	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		G	130951488	A	G	130951488	2	3	22	1	0	0	0	0	0	0	0	1	16745	214	8	2		2	TUBA3E	2	130951488	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	78617	130951488	112247885	1569	6677										
IMP4	92856	hgsc.bcm.edu	37	chr2	131103479	131103479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccccacctcatcacacaCggcttctcctcccgcctggg	7	20	3	0	rs34942992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131103479C>T	ENST00000259239.3	+	6	1275	c.567C>T	c.(565-567)caC>caT	p.H189H	IMP4_ENST00000409935.1_Silent_p.H189H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	189	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TCATCACACACGGCTTCTCCT	0.627													C|||	317	0.0632987	0.2186	0.0303	5008	,	,		16824	0.0		0.007	False		,,,				2504	0.0				p.H189H		Atlas-SNP	.											.	IMP4	35	.	0			c.C567T						PASS	.	C		923,3483	350.8+/-311.0	93,737,1373	68	64	65		567	-6.4	0.5	2	dbSNP_126	65	18,8582	14.0+/-48.4	0,18,4282	no	coding-synonymous	IMP4	NM_033416.1		93,755,5655	TT,TC,CC		0.2093,20.9487,7.2351		189/292	131103479	941,12065	2203	4300	6503	SO:0001819	synonymous_variant	92856	exon6			CACACACGGCTTC	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.567C>T	2.37:g.131103479C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	167	83	0.497006	NM_033416	Q3ZTT3	Silent	SNP	ENST00000259239.3	37	CCDS2160.1	106	0.048534798534798536	88	0.17886178861788618	15	0.04143646408839779	0	0.0	3	0.00395778364116095	C	4.046	0.006106	0.07866	0.209487	0.002093	ENSG00000136718	ENST00000452955	.	.	.	5.54	-6.4	0.01944	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.9999999999999991	.	.	.	.	.	.	T	0.41088	-0.9528	3	.	.	.	-30.9456	20.4249	0.99070	0.0:0.7431:0.0:0.2569	rs34942992	.	.	.	M	178	.	.	T	+	2	0	IMP4	130819949	0.838000	0.29461	0.510000	0.27712	0.459000	0.32528	-0.168000	0.09925	-1.766000	0.01302	-1.851000	0.00568	ACG	C|0.934;T|0.066	0.066	strong		0.627	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		T	131103479	C	T	131103479	2	4	22	1	0	0	0	0	0	0	0	1	7720	535	19	1		1	IMP4	2	131103479	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	151991	131103479	112095894	1570	6678										
CFC1	55997	hgsc.bcm.edu	37	chr2	131356322	131356322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagttgagcggtgactgtCggtgcttctgagtggcaacc	14	10	1	3	rs201431919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131356322C>T	ENST00000259216.4	-	3	402	c.140G>A	c.(139-141)cGa>cAa	p.R47Q		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	47					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CGGTGACTGTCGGTGCTTCTG	0.537													c|||	372	0.0742812	0.2663	0.0259	5008	,	,		16561	0.0		0.002	False		,,,				2504	0.0				p.R47Q		Atlas-SNP	.											CFC1,fourth_ventricle,glioma,0,1	.	.	1	0			c.G140A	GRCh37	CM023185	CFC1	M		PASS	.						15	23	21					2																	131356322		2174	4254	6428	SO:0001583	missense	653275	exon3			GACTGTCGGTGCT	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"heterotaxy 2 (autosomal dominant)"	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.140G>A	2.37:g.131356322C>T	ENSP00000259216:p.Arg47Gln	Somatic	1076	0	0		WXS	Illumina HiSeq	Phase_I	797	540	0.677541	NM_001079530	B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	CCDS2162.1	101	0.04624542124542125	92	0.18699186991869918	9	0.024861878453038673	0	0.0	0	0.0	.	0.054	-1.241061	0.01493	.	.	ENSG00000136698	ENST00000259216	D	0.88818	-2.43	1.91	0.598	0.17512	.	0.638739	0.14771	N	0.299398	T	0.00109	0.0003	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22836	-1.0205	10	0.07030	T	0.85	-32.4582	1.7088	0.02888	0.2856:0.1859:0.0:0.5285	.	47	P0CG37	CFC1_HUMAN	Q	47	ENSP00000259216:R47Q	ENSP00000259216:R47Q	R	-	2	0	CFC1	131072792	0.006000	0.16342	0.003000	0.11579	0.092000	0.18411	0.487000	0.22356	-0.207000	0.10187	-0.665000	0.03846	CGA	C|0.969;T|0.031	0.031	strong		0.537	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		T	131356322	C	T	131356322	3	4	22	1	0	0	0	0	1	0	0	0	3279	884	31	1	1243	1	CFC1	2	131356322	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	252843	131356322	111843051	1571	6679										
GPR148	344561	hgsc.bcm.edu	37	chr2	131486765	131486765	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccctgtgggcactacagCttggccggccctgatccagc	12	15	0	1	rs80008074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131486765C>G	ENST00000309926.4	+	1	123	c.41C>G	c.(40-42)gCt>gGt	p.A14G		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCACTACAGCTTGGCCGGCC	0.617													.|||	344	0.0686901	0.202	0.0375	5008	,	,		19856	0.0		0.0308	False		,,,				2504	0.0204				p.A14G		Atlas-SNP	.											.	GPR148	54	.	0			c.C41G						PASS	.	C	GLY/ALA	756,3650		81,594,1528	99	100	100		41	0.6	0	2	dbSNP_131	100	234,8366		3,228,4069	yes	missense	GPR148	NM_207364.2	60	84,822,5597	GG,GC,CC		2.7209,17.1584,7.6119	benign	14/348	131486765	990,12016	2203	4300	6503	SO:0001583	missense	344561	exon1			CTACAGCTTGGCC	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.41C>G	2.37:g.131486765C>G	ENSP00000308908:p.Ala14Gly	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	218	106	0.486239	NM_207364	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	144	0.06593406593406594	108	0.21951219512195122	15	0.04143646408839779	0	0.0	21	0.027704485488126648	.	7.664	0.685580	0.14973	0.171584	0.027209	ENSG00000173302	ENST00000309926	T	0.09163	3.01	2.41	0.555	0.17247	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.26635	0.155	B	0.28305	0.088	T	0.46345	-0.9198	8	0.51188	T	0.08	-0.8278	4.6863	0.12758	0.0:0.6753:0.0:0.3247	.	14	Q8TDV2	GP148_HUMAN	G	14	ENSP00000308908:A14G	ENSP00000308908:A14G	A	+	2	0	GPR148	131203235	0.003000	0.15002	0.003000	0.11579	0.025000	0.11179	0.139000	0.16036	0.127000	0.18452	-0.448000	0.05591	GCT	C|0.932;G|0.068	0.068	strong		0.617	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		G	131486765	C	G	131486765	3	3	22	1	0	0	0	0	1	0	0	0	6653	797	28	4	43	4	GPR148	2	131486765	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	130443	131486765	111712608	1572	6680										
GPR148	344561	hgsc.bcm.edu	37	chr2	131487691	131487691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacatacctgtacctgctcCgctaccggcagctgttgggc	10	15	1	0	rs143265147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131487691C>T	ENST00000309926.4	+	1	1049	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GTACCTGCTCCGCTACCGGCA	0.577													.|||	23	0.00459265	0.0144	0.0043	5008	,	,		20324	0.0		0.001	False		,,,				2504	0.0				p.R323C		Atlas-SNP	.											GPR148,NS,carcinoma,0,1	GPR148	54	1	0			c.C967T						PASS	.	C	CYS/ARG	56,4350		1,54,2148	60	51	54		967	-4.1	0	2	dbSNP_134	54	1,8599		0,1,4299	yes	missense	GPR148	NM_207364.2	180	1,55,6447	TT,TC,CC		0.0116,1.271,0.4383	benign	323/348	131487691	57,12949	2203	4300	6503	SO:0001583	missense	344561	exon1			CTGCTCCGCTACC	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.967C>T	2.37:g.131487691C>T	ENSP00000308908:p.Arg323Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	114	58	0.508772	NM_207364	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	.	8.765	0.924629	0.18056	0.01271	1.16E-4	ENSG00000173302	ENST00000309926	T	0.40476	1.03	3.49	-4.14	0.03892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000284	T	0.13586	0.0329	L	0.27053	0.805	0.32198	N	0.578142	B	0.18741	0.03	B	0.13407	0.009	T	0.01810	-1.1269	10	0.52906	T	0.07	-10.4178	0.3322	0.00320	0.2767:0.2483:0.1305:0.3444	.	323	Q8TDV2	GP148_HUMAN	C	323	ENSP00000308908:R323C	ENSP00000308908:R323C	R	+	1	0	GPR148	131204161	0.959000	0.32827	0.000000	0.03702	0.359000	0.29487	-0.164000	0.09983	-0.512000	0.06505	-0.261000	0.10672	CGC	C|0.996;T|0.004	0.004	strong		0.577	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		T	131487691	C	T	131487691	3	4	22	1	0	0	0	0	1	0	0	0	6653	652	23	1	969	1	GPR148	2	131487691	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	926	131487691	111711682	1573	6681										
ARHGEF4	50649	hgsc.bcm.edu	37	chr2	131802045	131802045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgtgcaccaggaagccCgagcagaagcagcgctggct	14	13	0	1	rs10928515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131802045C>T	ENST00000326016.5	+	12	2292	c.1773C>T	c.(1771-1773)ccC>ccT	p.P591P	ARHGEF4_ENST00000409303.1_Silent_p.P531P|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Silent_p.P591P|ARHGEF4_ENST00000525839.1_Silent_p.P591P|ARHGEF4_ENST00000355771.3_Silent_p.P520P	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCAGGAAGCCCGAGCAGAAGC	0.657													C|||	923	0.184305	0.2791	0.1196	5008	,	,		18450	0.1329		0.1074	False		,,,				2504	0.2342				p.P591P		Atlas-SNP	.											ARHGEF4,NS,carcinoma,0,1	ARHGEF4	89	1	0			c.C1773T						PASS	.	C	,	1042,3272		130,782,1245	41	35	37		1773,1773	-10.4	0.6	2	dbSNP_120	37	946,7552		57,832,3360	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	187,1614,4605	TT,TC,CC		11.132,24.1539,15.5167	,	591/691,591/671	131802045	1988,10824	2157	4249	6406	SO:0001819	synonymous_variant	50649	exon12			GAAGCCCGAGCAG	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1773C>T	2.37:g.131802045C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	81	40	0.493827	NM_032995	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1	328	0.15018315018315018	125	0.2540650406504065	43	0.11878453038674033	80	0.13986013986013987	80	0.10554089709762533	C	8.628	0.893035	0.17613	0.241539	0.11132	ENSG00000136002	ENST00000532720	.	.	.	5.19	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999999796378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.00498	0.3745:0.1766:0.1526:0.2963	rs10928515;rs61026863	.	.	.	X	208	.	.	R	+	1	2	ARHGEF4	131518515	0.000000	0.05858	0.570000	0.28473	0.980000	0.70556	-4.997000	0.00161	-3.160000	0.00228	-1.319000	0.01295	CGA	A|0.000;C|0.838;G|0.000;T|0.161	0.161	strong		0.657	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			T	131802045	C	T	131802045	2	4	22	1	0	0	0	0	0	0	0	1	908	639	23	1		1	ARHGEF4	2	131802045	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	314354	131802045	111397328	1574	6682										
ARHGEF4	50649	hgsc.bcm.edu	37	chr2	131803624	131803624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcagctgttggccggccCtgctacctgacgcgccagaa	12	14	1	2	rs114004756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:131803624C>T	ENST00000326016.5	+	14	2454	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	ARHGEF4_ENST00000409303.1_Silent_p.P585P|ARHGEF4_ENST00000428230.2_Silent_p.P147P|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.P574P	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	645					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TTGGCCGGCCCTGCTACCTGA	0.677													C|||	20	0.00399361	0.0151	0.0	5008	,	,		16752	0.0		0.0	False		,,,				2504	0.0				p.P645P		Atlas-SNP	.											.	ARHGEF4	89	.	0			c.C1935T						PASS	.	C	,	66,4340	61.1+/-98.1	3,60,2140	61	72	68		1935,	-1.7	1	2	dbSNP_132	68	0,8600		0,0,4300	no	coding-synonymous,utr-3	ARHGEF4	NM_015320.2,NM_032995.1	,	3,60,6440	TT,TC,CC		0.0,1.498,0.5075	,	645/691,	131803624	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	50649	exon14			CCGGCCCTGCTAC	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1935C>T	2.37:g.131803624C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	180	73	0.405556	NM_015320	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																			C|0.996;T|0.004	0.004	strong		0.677	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			T	131803624	C	T	131803624	2	4	22	1	0	0	0	0	0	0	0	1	908	668	24	2		2	ARHGEF4	2	131803624	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1579	131803624	111395749	1575	6683										
POTEE	445582	hgsc.bcm.edu	37	chr2	132020983	132020983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgaaaatagtacgttgcGggaagaaattgccatgctaa	11	6	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132020983G>A	ENST00000356920.5	+	15	2049	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	652					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGTACGTTGCGGGAAGAAATT	0.353																																					p.R652Q		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+1,1	.	.	1	0			c.G1955A						scavenged	.						22	23	23					2																	132020983		1916	4147	6063	SO:0001583	missense	445582	exon15			CGTTGCGGGAAGA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1955G>A	2.37:g.132020983G>A	ENSP00000439189:p.Arg652Gln	Somatic	573	1	0.0017452		WXS	Illumina HiSeq	Phase_I	694	85	0.122478	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.449	-0.112491	0.06881	.	.	ENSG00000188219	ENST00000356920	T	0.10192	2.9	0.993	0.993	0.19825	.	.	.	.	.	T	0.01976	0.0062	N	0.00392	-1.555	0.09310	N	0.999997	B	0.06786	0.001	B	0.01281	0.0	T	0.43956	-0.9359	9	0.02654	T	1	.	4.4834	0.11778	0.7821:0.0:0.2179:0.0	.	652	Q6S8J3	POTEE_HUMAN	Q	652	ENSP00000439189:R652Q	ENSP00000439189:R652Q	R	+	2	0	AC131180.1	131737453	0.003000	0.15002	0.337000	0.25536	0.033000	0.12548	0.069000	0.14552	-0.094000	0.12374	-1.451000	0.01035	CGG	.	.	none		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132020983	G	A	132020983	3	1	22	1	0	0	0	0	1	0	0	0	12264	1116	39	1	2013	1	POTEE	2	132020983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	217359	132020983	111178390	1576	6684										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021539	132021539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgtacgtggccatccaGgccgtgccgtccctgtacac	11	16	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132021539G>A	ENST00000356920.5	+	15	2605	c.2511G>A	c.(2509-2511)caG>caA	p.Q837Q	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	837	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGGCCATCCAGGCCGTGCCGT	0.607																																					p.Q837Q		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+2,2	.	.	2	0			c.G2511A						scavenged	.						149	151	150					2																	132021539		2203	4300	6503	SO:0001819	synonymous_variant	445582	exon15			CATCCAGGCCGTG	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2511G>A	2.37:g.132021539G>A		Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	352	4	0.0113636	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																			.	.	none		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021539	G	A	132021539	2	1	22	1	0	0	0	0	0	0	0	1	12264	991	35	2		2	POTEE	2	132021539	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	556	132021539	111177834	1577	6685										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	575	5	0.00869565		WXS	Illumina HiSeq	Phase_I	520	16	0.0307692	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	22	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145	132021684	111177689	1578	6686										
TUBA3D	113457	hgsc.bcm.edu	37	chr2	132240298	132240298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtgcactggtacgtgggCgaaggcatggaagagggaga	18	5	0	2	rs138292408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132240298C>T	ENST00000321253.6	+	5	1337	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	410					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTACGTGGGCGAAGGCATGG	0.597													.|||	248	0.0495208	0.1785	0.0159	5008	,	,		20048	0.0		0.001	False		,,,				2504	0.0				p.G410G	Ovarian(137;2059 2432 35543 39401)	Atlas-SNP	.											.	TUBA3D	60	.	0			c.C1230T						PASS	.	C		728,3678	296.1+/-284.1	47,634,1522	159	157	158		1230	-4.8	1	2	dbSNP_134	158	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous	TUBA3D	NM_080386.2		47,643,5813	TT,TC,CC		0.1047,16.5229,5.6666		410/451	132240298	737,12269	2203	4300	6503	SO:0001819	synonymous_variant	113457	exon5			CGTGGGCGAAGGC	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1230C>T	2.37:g.132240298C>T		Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	299	136	0.45485	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	CCDS33290.1																																																																																			C|0.942;T|0.058	0.058	strong		0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		T	132240298	C	T	132240298	2	4	22	1	0	0	0	0	0	0	0	1	16744	755	27	1		1	TUBA3D	2	132240298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	218614	132240298	110959075	1579	6687										
FAM128A	653784	hgsc.bcm.edu	37	chr2	132241704	132241704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggtagcgctgggctggCgtggcatcctctggctggat	17	11	1	0	rs11553182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132241704C>T	ENST00000309451.6	-	3	452	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	136						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						GCTGGGCTGGCGTGGCATCCT	0.647													.|||	841	0.167931	0.4607	0.1037	5008	,	,		15889	0.004		0.0924	False		,,,				2504	0.0644				p.R136H		Atlas-SNP	.											.	MZT2A	6	.	0			c.G407A						PASS	.	C	HIS/ARG	1752,2648		365,1022,813	51	63	59		407	2.4	1	2	dbSNP_120	59	785,7813		41,703,3555	no	missense	MZT2A	NM_001085365.1	29	406,1725,4368	TT,TC,CC		9.13,39.8182,19.5184	probably-damaging	136/159	132241704	2537,10461	2200	4299	6499	SO:0001583	missense	653784	exon3			GGCTGGCGTGGCA	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.407G>A	2.37:g.132241704C>T	ENSP00000311500:p.Arg136His	Somatic	271	1	0.00369004		WXS	Illumina HiSeq	Phase_I	286	142	0.496504	NM_001085365	Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	CCDS42758.1	338	0.15476190476190477	236	0.4796747967479675	39	0.10773480662983426	2	0.0034965034965034965	61	0.08047493403693931	c	12.99	2.104319	0.37145	0.398182	0.0913	ENSG00000173272	ENST00000309451	T	0.47177	0.85	2.4	2.4	0.29515	.	0.062472	0.64402	D	0.000008	T	0.00012	0.0000	M	0.63843	1.955	0.23238	P	0.99806022	B	0.22604	0.072	B	0.15052	0.012	T	0.44513	-0.9323	9	0.48119	T	0.1	-9.6738	10.5091	0.44851	0.0:1.0:0.0:0.0	rs11553182;rs61686750	136	Q6P582	MZT2A_HUMAN	H	136	ENSP00000311500:R136H	ENSP00000311500:R136H	R	-	2	0	MZT2A	131958174	1.000000	0.71417	0.985000	0.45067	0.062000	0.15995	3.776000	0.55356	1.337000	0.45525	0.430000	0.28490	CGC	C|0.872;T|0.128	0.128	strong		0.647	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			T	132241704	C	T	132241704	3	4	22	1	0	0	0	0	1	0	0	0	5434	768	27	1	73	1	FAM128A	2	132241704	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1406	132241704	110957669	1580	6688										
FAM128A	653784	hgsc.bcm.edu	37	chr2	132241731	132241731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctctggctggatccctcgTggttgctgcgttccgccagg	13	14	1	0	rs75021268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:132241731T>C	ENST00000309451.6	-	3	425	c.380A>G	c.(379-381)cAc>cGc	p.H127R	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	127						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						GGATCCCTCGTGGTTGCTGCG	0.642													.|||	841	0.167931	0.4607	0.1037	5008	,	,		16385	0.004		0.0924	False		,,,				2504	0.0644				p.H127R		Atlas-SNP	.											.	MZT2A	6	.	0			c.A380G						PASS	.	C	ARG/HIS	1790,2616	600.5+/-389.5	380,1030,793	52	64	60		380	1.3	0	2	dbSNP_131	60	788,7812	769.9+/-407.6	41,706,3553	no	missense	MZT2A	NM_001085365.1	29	421,1736,4346	CC,CT,TT		9.1628,40.6264,19.8216	benign	127/159	132241731	2578,10428	2203	4300	6503	SO:0001583	missense	653784	exon3			CCCTCGTGGTTGC	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.380A>G	2.37:g.132241731T>C	ENSP00000311500:p.His127Arg	Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	271	137	0.505535	NM_001085365	Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	CCDS42758.1	338	0.15476190476190477	236	0.4796747967479675	39	0.10773480662983426	2	0.0034965034965034965	61	0.08047493403693931	c	0.001	-3.004465	0.00044	0.406264	0.091628	ENSG00000173272	ENST00000309451	T	0.17691	2.26	2.23	1.32	0.21799	.	0.121674	0.52532	N	0.000065	T	0.00012	0.0000	N	0.00159	-1.955	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.02654	T	1	-6.1763	6.2716	0.20956	0.0:0.7112:0.0:0.2888	.	127	Q6P582	MZT2A_HUMAN	R	127	ENSP00000311500:H127R	ENSP00000311500:H127R	H	-	2	0	MZT2A	131958201	0.962000	0.33011	0.044000	0.18714	0.006000	0.05464	2.095000	0.41729	-0.092000	0.12417	-1.160000	0.01791	CAC	T|0.872;C|0.128	0.128	strong		0.642	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			C	132241731	T	C	132241731	3	2	22	1	0	0	0	0	1	0	0	0	5434	1696	59	2	100	2	FAM128A	2	132241731	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27	132241731	110957642	1581	6689										
GPR39	2863	hgsc.bcm.edu	37	chr2	133175152	133175152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgggtactgagtacccCctggtgaacgtgcccagcca	12	14	0	2	rs34714906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:133175152C>T	ENST00000329321.3	+	1	1006	c.537C>T	c.(535-537)ccC>ccT	p.P179P		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	179					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGAGTACCCCCTGGTGAACG	0.622													C|||	370	0.0738818	0.2269	0.0231	5008	,	,		18360	0.0357		0.0	False		,,,				2504	0.0184				p.P179P		Atlas-SNP	.											.	GPR39	60	.	0			c.C537T						PASS	.	C		802,3604	323.2+/-298.0	54,694,1455	72	65	67		537	-6	0.2	2	dbSNP_126	67	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	GPR39	NM_001508.2		54,703,5746	TT,TC,CC		0.1047,18.2025,6.2356		179/454	133175152	811,12195	2203	4300	6503	SO:0001819	synonymous_variant	2863	exon1			GTACCCCCTGGTG	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.537C>T	2.37:g.133175152C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	36	0.375	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	CCDS2170.1																																																																																			C|0.926;T|0.074	0.074	strong		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			T	133175152	C	T	133175152	2	4	22	1	0	0	0	0	0	0	0	1	6693	610	22	2		2	GPR39	2	133175152	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	933421	133175152	110024221	1582	6690										
GPR39	2863	hgsc.bcm.edu	37	chr2	133403034	133403036	+	In_Frame_Del	DEL	AGA	AGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctctgcaaggagaactgAgaagattttcttaagcactt					rs557760477|rs113224054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:133403034_133403036delAGA	ENST00000329321.3	+	2	1686_1688	c.1217_1219delAGA	c.(1216-1221)gagaag>gag	p.K407del	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	407					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAGAACTGAGAAGATTTTCTT	0.601														13	0.00259585	0.0098	0.0	5008	,	,		18521	0.0		0.0	False		,,,				2504	0.0				p.406_406del		Pindel	.											.	GPR39	60	.	0			c.1216_1218del						PASS	.		,,	25,4241		2,21,2110					,,	-1.8	0		dbSNP_132	52	2,8252		1,0,4126	no	utr-3,coding,utr-3	GPR39,LYPD1	NM_144586.5,NM_001508.2,NM_001077427.2	,,	3,21,6236	A1A1,A1R,RR		0.0242,0.586,0.2157	,,	,,		27,12493				SO:0001651	inframe_deletion	2863	exon2			.	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1217_1219delAGA	2.37:g.133403037_133403039delAGA	ENSP00000327417:p.Lys407del	Somatic	26	.	.		WXS	Illumina HiSeq	Phase_I	23	10	0.435	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	In_Frame_Del	DEL	ENST00000329321.3	37	CCDS2170.1																																																																																			AGA|0.500;-|0.500	0.500	weak		0.601	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			-	133403036	AGA	-	133403034	7	5	22	1	0	1	0	1	0	0	0	0	6693	304	11	0	1223	0	GPR39	2	133403034	In_Frame_Del	DEL	AGA	TCGA-G8-6324-01A-11D-2210-10	227882	133403034	109796339	1583	6691										
LYPD1	116372	hgsc.bcm.edu	37	chr2	133403647	133403647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgagaagagggctaattTgaggaacaggatggtggtgc	17	5	0	3	rs139508764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:133403647T>C	ENST00000397463.2	-	3	669	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E	LYPD1_ENST00000345008.6_Missense_Mutation_p.K81E|GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	133				K -> R (in Ref. 2; BAC85518). {ECO:0000305}.		anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						AGGGCTAATTTGAGGAACAGG	0.612													T|||	16	0.00319489	0.0113	0.0014	5008	,	,		16585	0.0		0.0	False		,,,				2504	0.0				p.K133E		Atlas-SNP	.											.	LYPD1	11	.	0			c.A397G						PASS	.	T	GLU/LYS,,GLU/LYS	34,3886		1,32,1927	66	73	71		241,,397	-1.4	0	2	dbSNP_134	71	0,8316		0,0,4158	yes	missense,utr-3,missense	GPR39,LYPD1	NM_001077427.2,NM_001508.2,NM_144586.5	56,,56	1,32,6085	CC,CT,TT		0.0,0.8673,0.2779	benign,,benign	81/90,,133/142	133403647	34,12202	1960	4158	6118	SO:0001583	missense	116372	exon3			CTAATTTGAGGAA	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.397A>G	2.37:g.133403647T>C	ENSP00000380605:p.Lys133Glu	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	158	85	0.537975	NM_144586	H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	CCDS42759.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	8.848	0.943963	0.18281	0.008673	0.0	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.82526	-1.62;-1.62	5.55	-1.42	0.08913	.	1.164150	0.06065	N	0.658974	T	0.58680	0.2139	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.50833	-0.8781	10	0.42905	T	0.14	-15.7811	8.1786	0.31296	0.0:0.1191:0.444:0.4369	.	133;149	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	E	156;133;81	ENSP00000380605:K133E;ENSP00000340563:K81E	ENSP00000340563:K81E	K	-	1	0	LYPD1	133120117	0.001000	0.12720	0.021000	0.16686	0.724000	0.41520	-0.106000	0.10890	-0.206000	0.10203	0.529000	0.55759	AAA	T|0.998;C|0.002	0.002	strong		0.612	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		C	133403647	T	C	133403647	3	2	22	1	0	0	0	0	1	0	0	0	9109	1821	63	2	32	2	LYPD1	2	133403647	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	613	133403647	109795726	1584	6692										
NCKAP5	344148	hgsc.bcm.edu	37	chr2	133887676	133887676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccagttcatgtatcagcTtctcatgctataaaagacac	5	11	3	1	rs35356262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:133887676T>C	ENST00000409261.1	-	6	588	c.215A>G	c.(214-216)aAg>aGg	p.K72R	NCKAP5_ENST00000405974.3_Missense_Mutation_p.K72R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K72R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.K72R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	72										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGTATCAGCTTCTCATGCTA	0.403													T|||	6	0.00119808	0.0045	0.0	5008	,	,		20515	0.0		0.0	False		,,,				2504	0.0				p.K72R		Atlas-SNP	.											.	NCKAP5	322	.	0			c.A215G						PASS	.	T	ARG/LYS,ARG/LYS	25,3761		0,25,1868	69	65	66		215,215	3.8	1	2	dbSNP_126	66	0,8236		0,0,4118	yes	missense,missense	NCKAP5	NM_207363.2,NM_207481.3	26,26	0,25,5986	CC,CT,TT		0.0,0.6603,0.208	probably-damaging,probably-damaging	72/1910,72/591	133887676	25,11997	1893	4118	6011	SO:0001583	missense	344148	exon6			ATCAGCTTCTCAT	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.215A>G	2.37:g.133887676T>C	ENSP00000387128:p.Lys72Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	81	37	0.45679	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	22.4|22.4	4.279946|4.279946	0.80692|0.80692	0.006603|0.006603	0.0|0.0	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.51817|.	2.68;0.69;2.68;0.69|.	6.17|6.17	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	T|T	0.19765|0.19765	0.0475|0.0475	L|L	0.27053|0.27053	0.805|0.805	0.24242|0.24242	N|N	0.995352|0.995352	B;B;B;D|.	0.58620|.	0.006;0.063;0.126;0.983|.	B;B;B;P|.	0.56865|.	0.005;0.033;0.074;0.808|.	T|T	0.14952|0.14952	-1.0454|-1.0454	9|5	0.66056|.	D|.	0.02|.	.|.	7.094|7.094	0.25299|0.25299	0.0:0.1686:0.0:0.8314|0.0:0.1686:0.0:0.8314	rs35356262|rs35356262	72;47;72;72|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	R|G	72;72;72;72;72;47|68	ENSP00000387128:K72R;ENSP00000386952:K72R;ENSP00000380603:K72R;ENSP00000385692:K72R|.	ENSP00000380603:K72R|.	K|S	-|-	2|1	0|0	NCKAP5|NCKAP5	133604146|133604146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.758000|3.758000	0.55220|0.55220	1.163000|1.163000	0.42636|0.42636	0.533000|0.533000	0.62120|0.62120	AAG|AGC	T|0.999;C|0.001	0.001	strong		0.403	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133887676	T	C	133887676	3	2	22	1	0	0	0	0	1	0	0	0	10223	1609	56	3	5574	3	NCKAP5	2	133887676	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	484029	133887676	109311697	1585	6693										
YSK4	80122	hgsc.bcm.edu	37	chr2	135744416	135744416	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttcatccctttcagtctCtcgcacatgacaataaacag	5	12	3	1	rs1112542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:135744416C>G	ENST00000375845.3	-	7	2056	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	MAP3K19_ENST00000392915.1_Missense_Mutation_p.E693Q|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E563Q	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	676			E -> Q (in dbSNP:rs1112542).				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTTTCAGTCTCTCGCACATGA	0.403													C|||	627	0.1252	0.1316	0.0403	5008	,	,		21345	0.3819		0.004	False		,,,				2504	0.0368				p.E676Q		Atlas-SNP	.											.	.	.	.	0			c.G2026C						PASS	.	C	,GLN/GLU	608,3798	266.2+/-267.1	40,528,1635	169	158	162		,2026	4.7	1	2	dbSNP_86	162	47,8553	31.7+/-84.0	0,47,4253	yes	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,29	40,575,5888	GG,GC,CC		0.5465,13.7994,5.0361	,possibly-damaging	,676/1329	135744416	655,12351	2203	4300	6503	SO:0001583	missense	80122	exon7			CAGTCTCTCGCAC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2026G>C	2.37:g.135744416C>G	ENSP00000365005:p.Glu676Gln	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	125	56	0.448	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	298	0.13644688644688643	65	0.13211382113821138	10	0.027624309392265192	220	0.38461538461538464	3	0.00395778364116095	C	10.03	1.237971	0.22711	0.137994	0.005465	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.74632	-0.8;-0.76;1.52;-0.86	5.67	4.74	0.60224	.	0.122354	0.36815	N	0.002389	T	0.00012	0.0000	L	0.36672	1.1	0.09310	P	1.0	P;D;P	0.76494	0.679;0.999;0.813	B;D;B	0.65323	0.373;0.934;0.206	T	0.10683	-1.0619	9	0.87932	D	0	.	14.4797	0.67573	0.0:0.8537:0.1463:0.0	rs1112542;rs1112542	563;693;676	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	676;563;693;66	ENSP00000365005:E676Q;ENSP00000351140:E563Q;ENSP00000376647:E693Q;ENSP00000392827:E66Q	ENSP00000351140:E563Q	E	-	1	0	YSK4	135460886	1.000000	0.71417	0.968000	0.41197	0.018000	0.09664	3.362000	0.52314	2.667000	0.90743	0.561000	0.74099	GAG	C|0.915;G|0.085	0.085	strong		0.403	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135744416	C	G	135744416	3	3	22	1	0	0	0	0	1	0	0	0	17492	922	32	4	1976	4	YSK4	2	135744416	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1856740	135744416	107454957	1586	6694										
YSK4	80122	hgsc.bcm.edu	37	chr2	135745648	135745648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgacttaactagggctcccGgaggctcgtttgatgggctg	14	10	0	1	rs113683052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:135745648G>A	ENST00000375845.3	-	7	824	c.794C>T	c.(793-795)cCg>cTg	p.P265L	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P282L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P152L|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	265							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TAGGGCTCCCGGAGGCTCGTT	0.448													G|||	44	0.00878594	0.031	0.0043	5008	,	,		19304	0.0		0.0	False		,,,				2504	0.0				p.P265L		Atlas-SNP	.											.	.	.	.	0			c.C794T						PASS	.	G	,LEU/PRO	119,4287	89.7+/-128.4	0,119,2084	78	83	81		,794	1	0	2	dbSNP_132	81	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,98	0,121,6382	AA,AG,GG		0.0233,2.7009,0.9303	,benign	,265/1329	135745648	121,12885	2203	4300	6503	SO:0001583	missense	80122	exon7			GCTCCCGGAGGCT	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.794C>T	2.37:g.135745648G>A	ENSP00000365005:p.Pro265Leu	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	106	45	0.424528	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	2.128	-0.399907	0.04865	0.027009	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.69306	-0.39;-0.39;1.98	4.72	1.02	0.19986	.	0.637582	0.12907	N	0.429241	T	0.22205	0.0535	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19386	-1.0307	10	0.52906	T	0.07	.	2.7976	0.05405	0.1402:0.0796:0.1588:0.6214	.	152;282;265	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	265;152;282	ENSP00000365005:P265L;ENSP00000351140:P152L;ENSP00000376647:P282L	ENSP00000351140:P152L	P	-	2	0	YSK4	135462118	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.057000	0.11768	0.020000	0.15106	-0.271000	0.10264	CCG	G|0.989;A|0.011	0.011	strong		0.448	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135745648	G	A	135745648	3	1	22	1	0	0	0	0	1	0	0	0	17492	1116	39	1	3208	1	YSK4	2	135745648	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1232	135745648	107453725	1587	6695										
YSK4	80122	hgsc.bcm.edu	37	chr2	135745722	135745722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggcacaaaagatgtgagActtggaatgtttctttcttt	9	5	2	2	rs10928526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:135745722A>G	ENST00000375845.3	-	7	750	c.720T>C	c.(718-720)agT>agC	p.S240S	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S257S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S127S|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	240							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AAGATGTGAGACTTGGAATGT	0.478													G|||	1817	0.362819	0.3306	0.232	5008	,	,		19049	0.5417		0.2704	False		,,,				2504	0.41				p.S240S		Atlas-SNP	.											.	.	.	.	0			c.T720C						PASS	.	G	,	1393,3013	685.6+/-404.6	222,949,1032	97	108	105		,720	-0.5	0	2	dbSNP_120	105	1980,6620	721.7+/-406.4	259,1462,2579	no	intron,coding-synonymous	YSK4	NM_001018046.1,NM_025052.3	,	481,2411,3611	GG,GA,AA		23.0233,31.616,25.9342	,	,240/1329	135745722	3373,9633	2203	4300	6503	SO:0001819	synonymous_variant	80122	exon7			TGTGAGACTTGGA	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.720T>C	2.37:g.135745722A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	51	18	0.352941	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	CCDS2176.2																																																																																			A|0.687;G|0.313	0.313	strong		0.478	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135745722	A	G	135745722	2	3	22	1	0	0	0	0	0	0	0	1	17492	272	10	2		2	YSK4	2	135745722	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74	135745722	107453651	1588	6696										
ZRANB3	84083	hgsc.bcm.edu	37	chr2	135976740	135976740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaaattacagctcatctgTtttccatcctgatgatagat	6	8	2	4	rs16831460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:135976740T>C	ENST00000264159.6	-	16	2375	c.2259A>G	c.(2257-2259)aaA>aaG	p.K753K	ZRANB3_ENST00000401392.1_Silent_p.K751K|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.K751K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	753					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGCTCATCTGTTTTCCATCCT	0.318													T|||	298	0.0595048	0.1528	0.0288	5008	,	,		18227	0.0456		0.0239	False		,,,				2504	0.0061				p.K753K		Atlas-SNP	.											.	ZRANB3	109	.	0			c.A2259G						PASS	.	T		484,3092		34,416,1338	38	36	36		2259	2.7	1	2	dbSNP_123	36	153,7955		3,147,3904	no	coding-synonymous	ZRANB3	NM_032143.2		37,563,5242	CC,CT,TT		1.887,13.5347,5.4519		753/1080	135976740	637,11047	1788	4054	5842	SO:0001819	synonymous_variant	84083	exon16			CATCTGTTTTCCA	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2259A>G	2.37:g.135976740T>C		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	165	71	0.430303	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	CCDS46419.1																																																																																			T|0.947;C|0.053	0.053	strong		0.318	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		C	135976740	T	C	135976740	2	2	22	1	0	0	0	0	0	0	0	1	18221	1722	60	2		2	ZRANB3	2	135976740	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	231018	135976740	107222633	1589	6697										
ZRANB3	84083	hgsc.bcm.edu	37	chr2	135988236	135988236	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actttccacgagtggagttcGgatttgcttggactgggatg	14	7	0	0	rs200823309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:135988236G>A	ENST00000264159.6	-	13	1917	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	ZRANB3_ENST00000401392.1_Nonsense_Mutation_p.R601*|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.R601*	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	601					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTGGAGTTCGGATTTGCTTG	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19706	0.0		0.0	False		,,,				2504	0.0				p.R601X		Atlas-SNP	.											.	ZRANB3	109	.	0			c.C1801T						PASS	.	G	stop/ARG	10,3932		0,10,1961	158	155	156		1801	-0.6	0	2		156	1,8297		0,1,4148	yes	stop-gained	ZRANB3	NM_032143.2		0,11,6109	AA,AG,GG		0.0121,0.2537,0.0899		601/1080	135988236	11,12229	1971	4149	6120	SO:0001587	stop_gained	84083	exon13			GAGTTCGGATTTG	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1801C>T	2.37:g.135988236G>A	ENSP00000264159:p.Arg601*	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	323	145	0.448916	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Nonsense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.734207	0.96865	0.002537	1.21E-4	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	.	.	.	4.8	-0.643	0.11482	.	1.959680	0.01762	N	0.030630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5281	2.7512	0.05281	0.137:0.0772:0.2876:0.4982	.	.	.	.	X	66;66;601;601;601	.	ENSP00000264159:R601X	R	-	1	2	ZRANB3	135704706	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.257000	0.18369	-0.270000	0.09285	-0.375000	0.07067	CGA	G|1.000;A|0.000	0.000	strong		0.507	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		A	135988236	G	A	135988236	4	1	22	1	0	0	0	0	0	1	0	0	18221	1124	39	1	1474	1	ZRANB3	2	135988236	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11496	135988236	107211137	1590	6698										
R3HDM1	23518	hgsc.bcm.edu	37	chr2	136393658	136393658	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattatcctcttttctgtagAtgagaatacgtttgaaagat	7	5	2	4	rs961360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:136393658A>G	ENST00000264160.4	+	11	1178	c.808A>G	c.(808-810)Atg>Gtg	p.M270V	R3HDM1_ENST00000329971.3_Splice_Site_p.M226V|R3HDM1_ENST00000410054.1_Splice_Site_p.M214V|R3HDM1_ENST00000409478.1_Splice_Site_p.M226V|R3HDM1_ENST00000409606.1_Splice_Site_p.M270V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	270	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.		M -> V (in dbSNP:rs961360). {ECO:0000269|PubMed:15489334}.				poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTTCTGTAGATGAGAATACG	0.358													A|||	1549	0.309305	0.2511	0.2666	5008	,	,		17785	0.4702		0.2336	False		,,,				2504	0.3303				p.M270V		Atlas-SNP	.											R3HDM1,NS,carcinoma,-2,1	R3HDM1	84	1	0			c.A808G						PASS	.	A	VAL/MET	877,3529	341.0+/-306.5	75,727,1401	114	125	121		808	5.6	1	2	dbSNP_86	121	1508,7092	284.0+/-296.4	173,1162,2965	yes	missense-near-splice	R3HDM1	NM_015361.2	21	248,1889,4366	GG,GA,AA		17.5349,19.9047,18.3377	benign	270/1100	136393658	2385,10621	2203	4300	6503	SO:0001630	splice_region_variant	23518	exon11			CTGTAGATGAGAA	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.808-1A>G	2.37:g.136393658A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	90	36	0.4	NM_015361	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	687	0.31456043956043955	137	0.2784552845528455	103	0.2845303867403315	274	0.479020979020979	173	0.22823218997361477	A	10.09	1.255536	0.22965	0.199047	0.175349	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.58	5.58	0.84498	SUZ domain (1);	0.263218	0.49305	D	0.000150	T	0.00012	0.0000	N	0.14661	0.345	0.39165	P	0.03751199999999999	B;B;P;P	0.50156	0.006;0.216;0.895;0.932	B;B;P;D	0.67103	0.022;0.069;0.654;0.949	T	0.49447	-0.8939	8	.	.	.	-3.2018	16.0334	0.80603	1.0:0.0:0.0:0.0	rs961360;rs52817718;rs56663948;rs961360	226;270;214;270	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	V	226;226;270;226;214;270	ENSP00000386457:M226V;ENSP00000264160:M270V;ENSP00000331396:M226V;ENSP00000386877:M214V;ENSP00000387010:M270V	.	M	+	1	0	R3HDM1	136110128	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.932000	0.75869	2.243000	0.73865	0.533000	0.62120	ATG	A|0.689;G|0.311	0.311	strong		0.358	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	Missense_Mutation	G	136393658	A	G	136393658	5	3	22	1	0	0	0	0	0	0	1	0	12887	347	12	2	842	2	R3HDM1	2	136393658	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	405422	136393658	106805715	1591	6699										
UBXN4	23190	hgsc.bcm.edu	37	chr2	136511817	136511817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtgtttctgcagatgaActtgttacaagaattcacaa	9	6	2	3	rs1050115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:136511817A>G	ENST00000272638.9	+	4	614	c.303A>G	c.(301-303)gaA>gaG	p.E101E	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	101					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E101E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTGCAGATGAACTTGTTACAA	0.393													A|||	1009	0.201478	0.174	0.2061	5008	,	,		20902	0.1935		0.2137	False		,,,				2504	0.2311				p.E101E		Atlas-SNP	.											UBXN4,NS,carcinoma,0,1	UBXN4	54	1	1	Substitution - coding silent(1)	prostate(1)	c.A303G						PASS	.	A		515,3291		22,471,1410	170	158	162		303	0.7	1	2	dbSNP_86	162	1398,6856		147,1104,2876	no	coding-synonymous	UBXN4	NM_014607.3		169,1575,4286	GG,GA,AA		16.9372,13.5313,15.8624		101/509	136511817	1913,10147	1903	4127	6030	SO:0001819	synonymous_variant	23190	exon4			AGATGAACTTGTT	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.303A>G	2.37:g.136511817A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_014607	A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	CCDS42761.1																																																																																			A|0.774;G|0.226	0.226	strong		0.393	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		G	136511817	A	G	136511817	2	3	22	1	0	0	0	0	0	0	0	1	16913	40	2	2		2	UBXN4	2	136511817	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	118159	136511817	106687556	1592	6700										
LCT	3938	hgsc.bcm.edu	37	chr2	136574968	136574968	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgctggccggtgccataGcctgcgtagctcatcaccca	13	14	2	0	rs35093754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:136574968G>C	ENST00000264162.2	-	6	1660	c.1650C>G	c.(1648-1650)ggC>ggG	p.G550G	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	550	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CGGTGCCATAGCCTGCGTAGC	0.577													G|||	251	0.0501198	0.1059	0.0202	5008	,	,		16966	0.0516		0.0288	False		,,,				2504	0.0164				p.G550G		Atlas-SNP	.											.	LCT	309	.	0			c.C1650G						PASS	.	G		483,3923	226.2+/-241.8	31,421,1751	85	80	82		1650	0.9	1	2	dbSNP_126	82	186,8414	82.3+/-144.9	3,180,4117	no	coding-synonymous	LCT	NM_002299.2		34,601,5868	CC,CG,GG		2.1628,10.9623,5.1438		550/1928	136574968	669,12337	2203	4300	6503	SO:0001819	synonymous_variant	3938	exon6			GCCATAGCCTGCG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1650C>G	2.37:g.136574968G>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_002299	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																			G|0.950;C|0.050	0.050	strong		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		C	136574968	G	C	136574968	2	2	22	1	0	0	0	0	0	0	0	1	8693	958	34	4		4	LCT	2	136574968	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63151	136574968	106624405	1593	6701										
LCT	3938	hgsc.bcm.edu	37	chr2	136587238	136587238	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcaagagagaggaaatcGaccgtgtcctgaaaatagta	10	6	1	3	rs3816088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:136587238G>C	ENST00000264162.2	-	3	739	c.729C>G	c.(727-729)gtC>gtG	p.V243V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	243	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGAGGAAATCGACCGTGTCCT	0.408													G|||	252	0.0503195	0.1059	0.0202	5008	,	,		17781	0.0516		0.0298	False		,,,				2504	0.0164				p.V243V		Atlas-SNP	.											.	LCT	309	.	0			c.C729G						PASS	.	G		479,3927	224.9+/-240.9	31,417,1755	126	126	126		729	-10.4	0	2	dbSNP_107	126	190,8410	83.4+/-145.9	3,184,4113	no	coding-synonymous	LCT	NM_002299.2		34,601,5868	CC,CG,GG		2.2093,10.8715,5.1438		243/1928	136587238	669,12337	2203	4300	6503	SO:0001819	synonymous_variant	3938	exon3			GAAATCGACCGTG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.729C>G	2.37:g.136587238G>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	64	25	0.390625	NM_002299	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																			G|0.942;C|0.058	0.058	strong		0.408	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		C	136587238	G	C	136587238	2	2	22	1	0	0	0	0	0	0	0	1	8693	1045	37	4		4	LCT	2	136587238	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12270	136587238	106612135	1594	6702										
LCT	3938	hgsc.bcm.edu	37	chr2	136590746	136590746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcagctcgcaggacaaCagagagttttccgcctgaaa	9	11	2	2	rs386833838|rs3754689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:136590746C>T	ENST00000264162.2	-	2	665	c.655G>A	c.(655-657)Gtt>Att	p.V219I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	219	4 X approximate repeats.		V -> I (in dbSNP:rs3754689). {ECO:0000269|PubMed:1902057}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CGCAGGACAACAGAGAGTTTT	0.532													C|||	1778	0.355032	0.5431	0.2637	5008	,	,		14970	0.372		0.2217	False		,,,				2504	0.2853				p.V219I		Atlas-SNP	.											LCT,colon,carcinoma,+1,2	LCT	309	2	0			c.G655A						PASS	.	C	ILE/VAL	1957,2449	553.3+/-378.7	416,1125,662	128	139	135		655	2.8	0.4	2	dbSNP_107	135	1558,7042	291.9+/-300.6	177,1204,2919	yes	missense	LCT	NM_002299.2	29	593,2329,3581	TT,TC,CC		18.1163,44.4167,27.026	benign	219/1928	136590746	3515,9491	2203	4300	6503	SO:0001583	missense	3938	exon2			GGACAACAGAGAG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.655G>A	2.37:g.136590746C>T	ENSP00000264162:p.Val219Ile	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	67	67	1	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	740	0.33882783882783885	263	0.5345528455284553	105	0.2900552486187845	205	0.3583916083916084	167	0.22031662269129287	C	0.136	-1.108297	0.01813	0.444167	0.181163	ENSG00000115850	ENST00000264162	T	0.25579	1.79	5.57	2.81	0.32909	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.673132	0.14942	N	0.289431	T	0.00012	0.0000	N	0.02865	-0.47	0.46356	P	9.909999999999641E-4	B	0.14012	0.009	B	0.19666	0.026	T	0.47182	-0.9137	9	0.02654	T	1	-10.4532	7.644	0.28311	0.0:0.6662:0.0:0.3338	rs3754689;rs52836667;rs58590436;rs3754689	219	P09848	LPH_HUMAN	I	219	ENSP00000264162:V219I	ENSP00000264162:V219I	V	-	1	0	LCT	136307216	0.344000	0.24827	0.358000	0.25811	0.361000	0.29550	0.084000	0.14891	0.408000	0.25621	0.455000	0.32223	GTT	C|0.681;T|0.319	0.319	strong		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		T	136590746	C	T	136590746	3	4	22	1	0	0	0	0	1	0	0	0	8693	478	17	2	5192	2	LCT	2	136590746	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3508	136590746	106608627	1595	6703										
THSD7B	80731	hgsc.bcm.edu	37	chr2	138030234	138030234	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgtgtcctgtatatcggCaagtagttaccttttaaaat	7	8	0	0	rs12622896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:138030234C>T	ENST00000409968.1	+	11	2574		c.e11+2		THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B							integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTATATCGGCAAGTAGTTAC	0.378													T|||	245	0.0489217	0.0809	0.0231	5008	,	,		17286	0.0595		0.0159	False		,,,				2504	0.047				.		Atlas-SNP	.											.	THSD7B	506	.	0			c.2303+2C>T						PASS	.	T		198,3588		5,188,1700	149	145	146			5.9	1	2	dbSNP_120	146	72,8164		1,70,4047	yes	splice-5	THSD7B	NM_001080427.1		6,258,5747	TT,TC,CC		0.8742,5.2298,2.2459			138030234	270,11752	1893	4118	6011	SO:0001630	splice_region_variant	80731	exon10			TATCGGCAAGTAG			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2396+2C>T	2.37:g.138030234C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	75	31	0.413333	NM_001080427		Splice_Site	SNP	ENST00000409968.1	37		79	0.036172161172161175	27	0.054878048780487805	8	0.022099447513812154	31	0.05419580419580419	13	0.017150395778364115	T	13.25	2.179761	0.38511	0.052298	0.008742	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2029	0.48751	0.0:0.0726:0.0:0.9274	rs12622896;rs52826023;rs12622896	.	.	.	.	-1	.	.	.	+	.	.	THSD7B	137746704	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	4.425000	0.59875	1.049000	0.40321	-0.254000	0.11334	.	C|0.961;T|0.039	0.039	strong		0.378	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	Intron	T	138030234	C	T	138030234	5	4	22	1	0	0	0	0	0	0	1	0	15877	724	25	2	2343	2	THSD7B	2	138030234	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1439488	138030234	105169139	1596	6704										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141130695	141130695	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatctttggaacaacttgtCtcacaatttctctatgaaaa	5	8	3	2	rs16843864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:141130695C>T	ENST00000389484.3	-	69	11621	c.10650G>A	c.(10648-10650)gaG>gaA	p.E3550E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3550	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAACTTGTCTCACAATTTC	0.343										TSP Lung(27;0.18)			T|||	528	0.105431	0.2005	0.0951	5008	,	,		16259	0.0159		0.1233	False		,,,				2504	0.0583				p.E3550E	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.G10650A						PASS	.	T		853,3551	744.8+/-411.6	72,709,1421	117	109	112		10650	3.1	0.8	2	dbSNP_123	112	1112,7488	766.9+/-407.6	67,978,3255	no	coding-synonymous	LRP1B	NM_018557.2		139,1687,4676	TT,TC,CC		12.9302,19.3688,15.1107		3550/4600	141130695	1965,11039	2202	4300	6502	SO:0001819	synonymous_variant	53353	exon69			ACTTGTCTCACAA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10650G>A	2.37:g.141130695C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			C|0.863;T|0.137	0.137	strong		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141130695	C	T	141130695	2	4	22	1	0	0	0	0	0	0	0	1	8955	912	32	2		2	LRP1B	2	141130695	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3100461	141130695	102068678	1597	6705										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141274456	141274456	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagctaaatacaatgtctcAccacagtggaattcatcacg	6	10	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:141274456A>G	ENST00000389484.3	-	50	9121		c.e50+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAATGTCTCACCACAGTGGA	0.328										TSP Lung(27;0.18)																											.	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.8149+2T>C						PASS	.						146	134	138					2																	141274456		2203	4300	6503	SO:0001630	splice_region_variant	53353	exon51			TGTCTCACCACAG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8149+1T>C	2.37:g.141274456A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	66	12	0.181818	NM_018557	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546269	0.65198	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5612	0.68136	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140990926	1.000000	0.71417	0.994000	0.49952	0.576000	0.36127	9.278000	0.95766	1.815000	0.52974	0.460000	0.39030	.	.	.	none		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	G	141274456	A	G	141274456	5	3	22	1	0	0	0	0	0	0	1	0	8955	173	6	2	5816	2	LRP1B	2	141274456	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	143761	141274456	101924917	1598	6706										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141625346	141625346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaaaggtattcatgaccTcggatgatttctatcatgtt	10	6	3	2	rs79054985	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:141625346T>C	ENST00000389484.3	-	27	5363	c.4392A>G	c.(4390-4392)cgA>cgG	p.R1464R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1464					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCATGACCTCGGATGATTT	0.403										TSP Lung(27;0.18)			T|||	172	0.034345	0.1203	0.013	5008	,	,		14463	0.004		0.0	False		,,,				2504	0.0				p.R1464R	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.A4392G						PASS	.	T		506,3900	228.8+/-243.5	35,436,1732	119	120	119		4392	-6.3	0.8	2	dbSNP_132	119	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	LRP1B	NM_018557.2		35,440,6028	CC,CT,TT		0.0465,11.4843,3.9213		1464/4600	141625346	510,12496	2203	4300	6503	SO:0001819	synonymous_variant	53353	exon27			ATGACCTCGGATG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4392A>G	2.37:g.141625346T>C		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	175	87	0.497143	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			T|0.965;C|0.035	0.035	strong		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141625346	T	C	141625346	2	2	22	1	0	0	0	0	0	0	0	1	8955	1538	54	3		3	LRP1B	2	141625346	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	350890	141625346	101574027	1599	6707										
GTDC1	79712	hgsc.bcm.edu	37	chr2	144899559	144899559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagcttcataaattttccCatggaagtgagaaatgattc	7	7	2	2	rs3731958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:144899559C>A	ENST00000392869.2	-	5	563	c.411G>T	c.(409-411)atG>atT	p.M137I	GTDC1_ENST00000409298.1_Missense_Mutation_p.M137I|GTDC1_ENST00000241391.5_Missense_Mutation_p.M137I|GTDC1_ENST00000344850.4_Missense_Mutation_p.M137I|GTDC1_ENST00000392867.3_Missense_Mutation_p.M137I|GTDC1_ENST00000542155.1_Missense_Mutation_p.M137I|GTDC1_ENST00000409214.1_Missense_Mutation_p.M137I|GTDC1_ENST00000463875.2_Missense_Mutation_p.M8I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	137			M -> I (in dbSNP:rs3731958). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15068588}.		biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAAATTTTCCCATGGAAGTGA	0.408													A|||	3424	0.683706	0.7443	0.7104	5008	,	,		18668	0.8413		0.5447	False		,,,				2504	0.5634				p.M137I		Atlas-SNP	.											.	GTDC1	61	.	0			c.G411T						PASS	.	A	ILE/MET,ILE/MET,ILE/MET	3209,1197	415.0+/-337.0	1146,917,140	69	72	71		411,411,411	4.9	1	2	dbSNP_107	71	4206,4392	582.1+/-391.3	1036,2134,1129	yes	missense,missense,missense	GTDC1	NM_001006636.3,NM_001164629.2,NM_024659.4	10,10,10	2182,3051,1269	AA,AC,CC		48.9184,27.1675,42.9791	benign,benign,benign	137/459,137/459,137/374	144899559	7415,5589	2203	4299	6502	SO:0001583	missense	79712	exon6			TTTTCCCATGGAA	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.411G>T	2.37:g.144899559C>A	ENSP00000376608:p.Met137Ile	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_001006636	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	1487	0.6808608058608059	364	0.7398373983739838	234	0.6464088397790055	473	0.8269230769230769	416	0.5488126649076517	A	5.380	0.255412	0.10185	0.728325	0.489184	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875;ENST00000437114	T;T;T;T;T;T;T;T;T	0.78707	1.15;1.15;1.15;-1.2;1.15;1.15;1.15;1.78;1.15	6.11	4.9	0.64082	Glycosyltransferase family 1, N-terminal (1);	0.046782	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00193	-1.875	0.50467	P	1.24000000000013E-4	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.42832	-0.9428	9	0.02654	T	1	-19.5844	13.0113	0.58733	0.7461:0.2539:0.0:0.0	rs3731958;rs17690312;rs52829764;rs61347201;rs3731958	137;137;137;137;137	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	I	137;137;137;137;137;137;137;8;137	ENSP00000376608:M137I;ENSP00000386581:M137I;ENSP00000376606:M137I;ENSP00000386691:M137I;ENSP00000438323:M137I;ENSP00000241391:M137I;ENSP00000339750:M137I;ENSP00000437964:M8I;ENSP00000403869:M137I	ENSP00000241391:M137I	M	-	3	0	GTDC1	144616029	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.888000	0.39708	1.134000	0.42165	-0.256000	0.11100	ATG	C|0.374;A|0.625	0.625	strong		0.408	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		A	144899559	C	A	144899559	3	1	22	1	0	0	0	0	1	0	0	0	6851	594	21	4	993	4	GTDC1	2	144899559	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3274213	144899559	98299814	1600	6708										
GTDC1	79712	hgsc.bcm.edu	37	chr2	144966208	144966208	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatggtctgagagaaataTaaagcagatgtccgggctct	13	6	2	3	rs16823579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:144966208T>C	ENST00000392869.2	-	3	293	c.141A>G	c.(139-141)ttA>ttG	p.L47L	GTDC1_ENST00000241391.5_Silent_p.L47L|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000344850.4_Silent_p.L47L|GTDC1_ENST00000542155.1_Silent_p.L47L|GTDC1_ENST00000392867.3_Silent_p.L47L|GTDC1_ENST00000409214.1_Silent_p.L47L|GTDC1_ENST00000467352.1_5'Flank|GTDC1_ENST00000409298.1_Silent_p.L47L	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	47					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGAGAAATATAAAGCAGATG	0.413													T|||	190	0.0379393	0.1384	0.0101	5008	,	,		16667	0.0		0.0	False		,,,				2504	0.0				p.L47L		Atlas-SNP	.											.	GTDC1	61	.	0			c.A141G						PASS	.	T	,,	568,3838	252.1+/-258.6	34,500,1669	81	82	82		141,141,141	-12.2	0	2	dbSNP_123	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GTDC1	NM_001006636.3,NM_001164629.2,NM_024659.4	,,	34,502,5967	CC,CT,TT		0.0233,12.8915,4.3826	,,	47/459,47/459,47/374	144966208	570,12436	2203	4300	6503	SO:0001819	synonymous_variant	79712	exon4			GAAATATAAAGCA	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.141A>G	2.37:g.144966208T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	64	41	0.640625	NM_001006636	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	CCDS33300.1																																																																																			T|0.957;C|0.043	0.043	strong		0.413	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		C	144966208	T	C	144966208	2	2	22	1	0	0	0	0	0	0	0	1	6851	1403	49	2		2	GTDC1	2	144966208	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66649	144966208	98233165	1601	6709										
EPC2	26122	hgsc.bcm.edu	37	chr2	149528738	149528738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctaatttctctcggaccaAtgcttccagtaaacattgtg	6	10	2	0	rs34444151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:149528738A>G	ENST00000258484.6	+	10	1536	c.1502A>G	c.(1501-1503)aAt>aGt	p.N501S		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	501					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCTCGGACCAATGCTTCCAGT	0.378													A|||	43	0.00858626	0.0265	0.0029	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0061				p.N501S		Atlas-SNP	.											.	EPC2	57	.	0			c.A1502G						PASS	.	A	SER/ASN	71,3607		1,69,1769	55	54	54		1502	5.4	1	2	dbSNP_126	54	4,8166		0,4,4081	yes	missense	EPC2	NM_015630.3	46	1,73,5850	GG,GA,AA		0.049,1.9304,0.633	benign	501/808	149528738	75,11773	1839	4085	5924	SO:0001583	missense	26122	exon10			GGACCAATGCTTC	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1502A>G	2.37:g.149528738A>G	ENSP00000258484:p.Asn501Ser	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	181	96	0.530387	NM_015630	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	A	14.04	2.415328	0.42817	0.019304	4.9E-4	ENSG00000135999	ENST00000258484	T	0.16324	2.35	5.36	5.36	0.76844	.	0.097920	0.64402	D	0.000002	T	0.05777	0.0151	L	0.40543	1.245	0.80722	D	1	B	0.25521	0.128	B	0.23018	0.043	T	0.01863	-1.1258	10	0.54805	T	0.06	-4.6206	15.6403	0.76993	1.0:0.0:0.0:0.0	rs34444151	501	Q52LR7	EPC2_HUMAN	S	501	ENSP00000258484:N501S	ENSP00000258484:N501S	N	+	2	0	EPC2	149245208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.325000	0.59234	2.140000	0.66376	0.460000	0.39030	AAT	A|0.992;G|0.008	0.008	strong		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		G	149528738	A	G	149528738	3	3	22	1	0	0	0	0	1	0	0	0	5161	101	4	2	1540	2	EPC2	2	149528738	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4562530	149528738	93670635	1602	6710										
KIF5C	3800	hgsc.bcm.edu	37	chr2	149799216	149799216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcggtttgtgtcgagcccTgaggaagtcatggatgtaat	15	6	1	1	rs61734995	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:149799216T>C	ENST00000435030.1	+	7	899	c.531T>C	c.(529-531)ccT>ccC	p.P177P	KIF5C_ENST00000414838.2_Silent_p.P82P			O60282	KIF5C_HUMAN	kinesin family member 5C	177	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTCGAGCCCTGAGGAAGTCA	0.488													C|||	750	0.14976	0.3427	0.1037	5008	,	,		19701	0.0347		0.1064	False		,,,				2504	0.0849				p.P177P		Atlas-SNP	.											.	KIF5C	166	.	0			c.T531C						PASS	.	C		1115,2823		164,787,1018	74	73	73		242	-11	0	2	dbSNP_129	73	765,7533		44,677,3428	no	coding-synonymous	KIF5C	NM_004522.1		208,1464,4446	CC,CT,TT		9.2191,28.3139,15.3645		177/958	149799216	1880,10356	1969	4149	6118	SO:0001819	synonymous_variant	3800	exon7			GAGCCCTGAGGAA	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.531T>C	2.37:g.149799216T>C		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	113	37	0.327434	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				T|0.860;C|0.140	0.140	strong		0.488	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		C	149799216	T	C	149799216	2	2	22	1	0	0	0	0	0	0	0	1	8307	1567	55	3		3	KIF5C	2	149799216	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	270478	149799216	93400157	1603	6711										
KIF5C	3800	hgsc.bcm.edu	37	chr2	149806388	149806388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgagggagctgttcttgaCgaagctaaaaatatcaataa	10	7	2	1	rs60169973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:149806388C>T	ENST00000435030.1	+	9	1118	c.750C>T	c.(748-750)gaC>gaT	p.D250D	KIF5C_ENST00000414838.2_Silent_p.D155D|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.D18D			O60282	KIF5C_HUMAN	kinesin family member 5C	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGTTCTTGACGAAGCTAAAA	0.443													C|||	654	0.130591	0.3086	0.0965	5008	,	,		18947	0.0159		0.0924	False		,,,				2504	0.0716				p.D250D		Atlas-SNP	.											.	KIF5C	166	.	0			c.C750T						PASS	.	C		997,2855		141,715,1070	105	102	103		461	-7.3	0.3	2	dbSNP_129	103	701,7595		36,629,3483	no	coding-synonymous	KIF5C	NM_004522.1		177,1344,4553	TT,TC,CC		8.4499,25.8827,13.9776		250/958	149806388	1698,10450	1926	4148	6074	SO:0001819	synonymous_variant	3800	exon9			TCTTGACGAAGCT	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.750C>T	2.37:g.149806388C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	118	50	0.423729	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				C|0.884;T|0.116	0.116	strong		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		T	149806388	C	T	149806388	2	4	22	1	0	0	0	0	0	0	0	1	8307	535	19	1		1	KIF5C	2	149806388	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7172	149806388	93392985	1604	6712										
KIF5C	3800	hgsc.bcm.edu	37	chr2	149861927	149861927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctagagaattgcagacactGcacaaccttcggaaactctt	7	11	2	2	rs184488465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:149861927G>A	ENST00000435030.1	+	22	2762	c.2394G>A	c.(2392-2394)ctG>ctA	p.L798L	KIF5C_ENST00000397413.1_Silent_p.L566L|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.L703L			O60282	KIF5C_HUMAN	kinesin family member 5C	798					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGCAGACACTGCACAACCTTC	0.428													G|||	12	0.00239617	0.0091	0.0	5008	,	,		16356	0.0		0.0	False		,,,				2504	0.0				p.L798L		Atlas-SNP	.											.	KIF5C	166	.	0			c.G2394A						PASS	.	G		16,3708		0,16,1846	73	71	72		2105	-0.9	1	2		72	0,8218		0,0,4109	no	coding-synonymous	KIF5C	NM_004522.1		0,16,5955	AA,AG,GG		0.0,0.4296,0.134		798/958	149861927	16,11926	1862	4109	5971	SO:0001819	synonymous_variant	3800	exon22			GACACTGCACAAC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2394G>A	2.37:g.149861927G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	66	44	0.666667	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				G|0.999;A|0.001	0.001	strong		0.428	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		A	149861927	G	A	149861927	2	1	22	1	0	0	0	0	0	0	0	1	8307	1306	46	2		2	KIF5C	2	149861927	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55539	149861927	93337446	1605	6713										
NMI	9111	hgsc.bcm.edu	37	chr2	152138522	152138522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttggatctccttctttagTtgaatatttttctttgtaat	5	5	3	1	rs3771886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152138522T>C	ENST00000243346.5	-	3	587	c.117A>G	c.(115-117)caA>caG	p.Q39Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	39					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTCTTTAGTTGAATATTTT	0.313													T|||	2783	0.555711	0.646	0.6297	5008	,	,		15950	0.4365		0.5577	False		,,,				2504	0.502				p.Q39Q		Atlas-SNP	.											.	NMI	21	.	0			c.A117G						PASS	.	T		2790,1614	656.1+/-400.0	886,1018,298	82	83	83		117	-5.1	0	2	dbSNP_107	83	4968,3624	620.6+/-397.1	1429,2110,757	no	coding-synonymous	NMI	NM_004688.2		2315,3128,1055	CC,CT,TT		42.1788,36.6485,40.3047		39/308	152138522	7758,5238	2202	4296	6498	SO:0001819	synonymous_variant	9111	exon3			CTTTAGTTGAATA	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.117A>G	2.37:g.152138522T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	106	63	0.59434	NM_004688	B5BU69|Q53TI8|Q9BVE5	Silent	SNP	ENST00000243346.5	37	CCDS2192.1																																																																																			T|0.430;C|0.570	0.570	strong		0.313	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		C	152138522	T	C	152138522	2	2	22	1	0	0	0	0	0	0	0	1	10497	1722	60	2		2	NMI	2	152138522	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2276595	152138522	91060851	1606	6714										
TNFAIP6	7130	hgsc.bcm.edu	37	chr2	152226570	152226570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctttacagatccaaagcAaatttttaaatctccaggct	5	10	2	1	rs1046668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152226570A>G	ENST00000243347.3	+	4	506	c.431A>G	c.(430-432)cAa>cGa	p.Q144R	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	144	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.		Q -> R (in dbSNP:rs1046668). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1730767}.		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GATCCAAAGCAAATTTTTAAA	0.383													G|||	887	0.177117	0.3033	0.1138	5008	,	,		17071	0.1329		0.1382	False		,,,				2504	0.137				p.Q144R		Atlas-SNP	.											.	TNFAIP6	98	.	0			c.A431G						PASS	.	G	ARG/GLN	1301,3105	695.6+/-406.0	199,903,1101	112	113	113		431	3.5	1	2	dbSNP_86	113	1188,7412	763.4+/-407.6	77,1034,3189	yes	missense	TNFAIP6	NM_007115.3	43	276,1937,4290	GG,GA,AA		13.814,29.5279,19.1373	benign	144/278	152226570	2489,10517	2203	4300	6503	SO:0001583	missense	7130	exon4			CAAAGCAAATTTT		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.431A>G	2.37:g.152226570A>G	ENSP00000243347:p.Gln144Arg	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_007115	Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	CCDS2193.1	389	0.17811355311355312	144	0.2926829268292683	39	0.10773480662983426	96	0.16783216783216784	110	0.14511873350923482	G	0.071	-1.201428	0.01581	0.295279	0.13814	ENSG00000123610	ENST00000243347	T	0.28255	1.62	5.27	3.46	0.39613	CUB (5);	0.247185	0.38436	N	0.001692	T	0.00012	0.0000	N	0.05383	-0.06	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.42905	T	0.14	.	5.9954	0.19491	0.2722:0.1359:0.592:0.0	rs1046668;rs3186656;rs17411793;rs56445941;rs61444688;rs1046668	144	P98066	TSG6_HUMAN	R	144	ENSP00000243347:Q144R	ENSP00000243347:Q144R	Q	+	2	0	TNFAIP6	151934816	0.990000	0.36364	0.963000	0.40424	0.230000	0.25150	1.071000	0.30666	0.225000	0.20959	-0.227000	0.12334	CAA	A|0.810;G|0.190	0.190	strong		0.383	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		G	152226570	A	G	152226570	3	3	22	1	0	0	0	0	1	0	0	0	16272	130	5	2	445	2	TNFAIP6	2	152226570	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	88048	152226570	90972803	1607	6715										
RIF1	55183	hgsc.bcm.edu	37	chr2	152320501	152320501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaatttacatgagaagacTcttggggaaactagtgctaa	10	5	1	2	rs7566841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152320501T>C	ENST00000243326.5	+	29	4950	c.4467T>C	c.(4465-4467)acT>acC	p.T1489T	RIF1_ENST00000444746.2_Silent_p.T1489T|RIF1_ENST00000430328.2_Silent_p.T1489T|RIF1_ENST00000428287.2_Silent_p.T1489T|RIF1_ENST00000453091.2_Silent_p.T1489T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGAGAAGACTCTTGGGGAAA	0.368													T|||	101	0.0201677	0.0734	0.0043	5008	,	,		19435	0.0		0.001	False		,,,				2504	0.0				p.T1489T		Atlas-SNP	.											.	RIF1	244	.	0			c.T4467C						PASS	.	T	,,,	213,4191		4,205,1993	57	65	62		4467,4467,4467,4467	1.7	0.1	2	dbSNP_116	62	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	4,206,6287	CC,CT,TT		0.0116,4.8365,1.6469	,,,	1489/2447,1489/2447,1489/2447,1489/2473	152320501	214,12780	2202	4295	6497	SO:0001819	synonymous_variant	55183	exon30			GAAGACTCTTGGG	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4467T>C	2.37:g.152320501T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	80	50	0.625	NM_018151	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																			T|0.981;C|0.019	0.019	strong		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152320501	T	C	152320501	2	2	22	1	0	0	0	0	0	0	0	1	13359	1538	54	3		3	RIF1	2	152320501	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93931	152320501	90878872	1608	6716										
RIF1	55183	hgsc.bcm.edu	37	chr2	152321618	152321618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaatgaaaattttaaaactGttggcccgtgtttaggagac	9	6	0	2	rs2444258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152321618G>A	ENST00000243326.5	+	29	6067	c.5584G>A	c.(5584-5586)Gtt>Att	p.V1862I	RIF1_ENST00000430328.2_Missense_Mutation_p.V1862I|RIF1_ENST00000428287.2_Missense_Mutation_p.V1862I|RIF1_ENST00000453091.2_Missense_Mutation_p.V1862I|RIF1_ENST00000444746.2_Missense_Mutation_p.V1862I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTTAAAACTGTTGGCCCGTG	0.368													G|||	370	0.0738818	0.2617	0.0317	5008	,	,		17559	0.0		0.002	False		,,,				2504	0.0				p.V1862I		Atlas-SNP	.											.	RIF1	244	.	0			c.G5584A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	986,3420	359.6+/-314.9	101,784,1318	57	63	61		5584,5584,5584,5584	-4	0	2	dbSNP_100	61	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	29,29,29,29	101,789,5613	AA,AG,GG		0.0581,22.3786,7.6196	benign,benign,benign,benign	1862/2447,1862/2447,1862/2447,1862/2473	152321618	991,12015	2203	4300	6503	SO:0001583	missense	55183	exon30			AAAACTGTTGGCC	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5584G>A	2.37:g.152321618G>A	ENSP00000243326:p.Val1862Ile	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	29	0.298969	NM_018151	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	146	0.06684981684981685	137	0.2784552845528455	9	0.024861878453038673	0	0.0	0	0.0	G	10.51	1.369197	0.24771	0.223786	5.81E-4	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09723	2.96;2.95;2.95;2.96;2.95	5.68	-3.96	0.04106	.	1.726510	0.02579	N	0.098634	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.29988	0.172;0.264	B;B	0.24269	0.023;0.052	T	0.41342	-0.9514	9	0.31617	T	0.26	0.8111	4.8656	0.13607	0.4276:0.089:0.3932:0.0902	rs2444258;rs52808590;rs60545876;rs2444258	1862;1862	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	I	1862	ENSP00000390181:V1862I;ENSP00000414615:V1862I;ENSP00000415691:V1862I;ENSP00000243326:V1862I;ENSP00000416123:V1862I	ENSP00000243326:V1862I	V	+	1	0	RIF1	152029864	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.006000	0.13152	-0.725000	0.04901	0.650000	0.86243	GTT	G|0.918;A|0.082	0.082	strong		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			A	152321618	G	A	152321618	3	1	22	1	0	0	0	0	1	0	0	0	13359	1377	48	2	5698	2	RIF1	2	152321618	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1117	152321618	90877755	1609	6717										
NEB	4703	hgsc.bcm.edu	37	chr2	152346979	152346979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcctcacccccactgaTgcttagtgcactggcagatc	7	16	2	2	rs1061305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152346979T>C	ENST00000172853.10	-	147	19783	c.19636A>G	c.(19636-19638)Atc>Gtc	p.I6546V	NEB_ENST00000603639.1_Missense_Mutation_p.I8402V|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.I6546V|NEB_ENST00000604864.1_Missense_Mutation_p.I8402V|NEB_ENST00000509223.2_Missense_Mutation_p.I315V|NEB_ENST00000397345.3_Missense_Mutation_p.I8402V|NEB_ENST00000397336.2_Missense_Mutation_p.I377V|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000427231.2_Missense_Mutation_p.I8402V			P20929	NEBU_HUMAN	nebulin	6546	Interaction with SVIL.		I -> V (in dbSNP:rs1061305). {ECO:0000269|PubMed:7739042}.		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCCCACTGATGCTTAGTGCA	0.542													T|||	1674	0.334265	0.4599	0.3458	5008	,	,		16667	0.254		0.3738	False		,,,				2504	0.1984				p.I8437V		Atlas-SNP	.											.	NEB	1697	.	0			c.A25309G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE	1744,2344		390,964,690	61	62	62		19636,25204,25204	0.4	1	2	dbSNP_86	62	3495,4927		743,2009,1459	yes	missense,missense,missense	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	29,29,29	1133,2973,2149	CC,CT,TT		41.4985,42.6614,41.8785	benign,benign,benign	6546/6670,8402/8526,8402/8526	152346979	5239,7271	2044	4211	6255	SO:0001583	missense	4703	exon181			CACTGATGCTTAG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19636A>G	2.37:g.152346979T>C	ENSP00000172853:p.Ile6546Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		811	0.37133699633699635	247	0.5020325203252033	119	0.3287292817679558	162	0.28321678321678323	283	0.3733509234828496	T	11.50	1.658056	0.29425	0.426614	0.414985	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.05855	3.5;3.52;3.52;3.38;3.5;4.08;4.27	5.4	0.397	0.16314	.	0.399381	0.30602	N	0.009272	T	0.00012	0.0000	N	0.22421	0.69	0.45108	P	0.00187499999999996	B;B;B;B	0.15930	0.0;0.0;0.001;0.015	B;B;B;B	0.23018	0.0;0.001;0.0;0.043	T	0.40289	-0.9571	9	0.13853	T	0.58	.	5.4834	0.16737	0.0:0.2949:0.2439:0.4612	rs1061305;rs3202355;rs17198024;rs57151876;rs1061305	315;377;6546;8402	B7Z6B9;B7Z6P9;P20929;F8WCL5	.;.;NEBU_HUMAN;.	V	6546;8402;8402;2502;2884;6546;377;315	ENSP00000386259:I6546V;ENSP00000380505:I8402V;ENSP00000416578:I8402V;ENSP00000410961:I2884V;ENSP00000172853:I6546V;ENSP00000380497:I377V;ENSP00000427083:I315V	ENSP00000172853:I6546V	I	-	1	0	NEB	152055225	0.776000	0.28616	0.997000	0.53966	0.961000	0.63080	-0.696000	0.05104	0.051000	0.15978	0.379000	0.24179	ATC	T|0.628;C|0.370	0.370	strong		0.542	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152346979	T	C	152346979	3	2	22	1	0	0	0	0	1	0	0	0	10302	1464	51	2	385	2	NEB	2	152346979	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25361	152346979	90852394	1610	6718										
NEB	4703	hgsc.bcm.edu	37	chr2	152476028	152476028	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctggtcgggcaggcagatCcattcatgcagaggatgttt	13	8	2	2	rs10172023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152476028C>G	ENST00000172853.10	-	69	10227	c.10080G>C	c.(10078-10080)tgG>tgC	p.W3360C	NEB_ENST00000603639.1_Missense_Mutation_p.W3603C|NEB_ENST00000409198.1_Missense_Mutation_p.W3360C|NEB_ENST00000604864.1_Missense_Mutation_p.W3603C|NEB_ENST00000397345.3_Missense_Mutation_p.W3603C|NEB_ENST00000427231.2_Missense_Mutation_p.W3603C			P20929	NEBU_HUMAN	nebulin	3360			W -> C (in dbSNP:rs10172023). {ECO:0000269|PubMed:7739042}.		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAGGCAGATCCATTCATGCA	0.483													C|||	1101	0.219848	0.1316	0.2478	5008	,	,		21041	0.244		0.3062	False		,,,				2504	0.2055				p.W3603C		Atlas-SNP	.											.	NEB	1697	.	0			c.G10809C						PASS	.	C	CYS/TRP,CYS/TRP,CYS/TRP	564,3494		42,480,1507	158	151	153		10809,10809,10080	5.6	1	2	dbSNP_119	153	2784,5616		483,1818,1899	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	215,215,215	525,2298,3406	GG,GC,CC		33.1429,13.8985,26.8743	probably-damaging,probably-damaging,probably-damaging	3603/8526,3603/8526,3360/6670	152476028	3348,9110	2029	4200	6229	SO:0001583	missense	4703	exon73			GCAGATCCATTCA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10080G>C	2.37:g.152476028C>G	ENSP00000172853:p.Trp3360Cys	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	154	90	0.584416	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		547	0.25045787545787546	71	0.1443089430894309	85	0.23480662983425415	145	0.2534965034965035	246	0.3245382585751979	C	13.94	2.387416	0.42308	0.138985	0.331429	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.61	5.61	0.85477	.	0.067367	0.64402	D	0.000005	T	0.00012	0.0000	M	0.87456	2.885	0.09310	P	1.0	D	0.89917	1.0	D	0.81914	0.995	T	0.03945	-1.0990	9	0.52906	T	0.07	.	16.2703	0.82612	0.0:0.8676:0.1324:0.0	rs10172023;rs10172023	3360	P20929	NEBU_HUMAN	C	3360;3603;3603;3360	ENSP00000386259:W3360C;ENSP00000380505:W3603C;ENSP00000416578:W3603C;ENSP00000172853:W3360C	ENSP00000172853:W3360C	W	-	3	0	NEB	152184274	1.000000	0.71417	0.999000	0.59377	0.325000	0.28411	1.494000	0.35616	2.793000	0.96121	0.655000	0.94253	TGG	C|0.769;G|0.231	0.231	strong		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152476028	C	G	152476028	3	3	22	1	0	0	0	0	1	0	0	0	10302	856	30	4	15317	4	NEB	2	152476028	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129049	152476028	90723345	1611	6719										
NEB	4703	hgsc.bcm.edu	37	chr2	152496526	152496526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatccaaagagccaatggAcacccagccaatgcctctca	6	16	1	1	rs6713162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152496526A>G	ENST00000172853.10	-	62	8881	c.8734T>C	c.(8734-8736)Tcc>Ccc	p.S2912P	NEB_ENST00000603639.1_Missense_Mutation_p.S2912P|NEB_ENST00000409198.1_Missense_Mutation_p.S2912P|NEB_ENST00000604864.1_Missense_Mutation_p.S2912P|NEB_ENST00000397345.3_Missense_Mutation_p.S2912P|NEB_ENST00000427231.2_Missense_Mutation_p.S2912P			P20929	NEBU_HUMAN	nebulin	2912			S -> P (in dbSNP:rs6713162).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S2912P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCCAATGGACACCCAGCCA	0.393													G|||	2230	0.445288	0.7201	0.1628	5008	,	,		19009	0.6339		0.174	False		,,,				2504	0.3589				p.S2912P		Atlas-SNP	.											NEB,NS,carcinoma,0,1	NEB	1697	1	1	Substitution - Missense(1)	stomach(1)	c.T8734C						PASS	.	G	PRO/SER,PRO/SER,PRO/SER	2256,1518		681,894,312	113	121	118		8734,8734,8734	5.5	1	2	dbSNP_116	118	1358,6874		124,1110,2882	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	74,74,74	805,2004,3194	GG,GA,AA		16.4966,40.2226,30.1016	benign,benign,benign	2912/8526,2912/8526,2912/6670	152496526	3614,8392	1887	4116	6003	SO:0001583	missense	4703	exon62			CAATGGACACCCA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8734T>C	2.37:g.152496526A>G	ENSP00000172853:p.Ser2912Pro	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		907	0.4152930402930403	355	0.7215447154471545	70	0.19337016574585636	354	0.6188811188811189	128	0.16886543535620052	G	7.903	0.734863	0.15574	0.597774	0.164966	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.04234	3.73;3.67;3.68;3.97	5.46	5.46	0.80206	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00029	-2.615	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.02654	T	1	.	14.4749	0.67539	0.0707:0.0:0.9293:0.0	rs6713162;rs52824461;rs57895848;rs6713162	2912	P20929	NEBU_HUMAN	P	2912	ENSP00000386259:S2912P;ENSP00000380505:S2912P;ENSP00000416578:S2912P;ENSP00000172853:S2912P	ENSP00000172853:S2912P	S	-	1	0	NEB	152204772	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	5.546000	0.67243	1.332000	0.45431	-0.119000	0.15052	TCC	A|0.570;G|0.430	0.430	strong		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152496526	A	G	152496526	3	3	22	1	0	0	0	0	1	0	0	0	10302	275	10	2	17436	2	NEB	2	152496526	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20498	152496526	90702847	1612	6720										
NEB	4703	hgsc.bcm.edu	37	chr2	152497088	152497088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactctggatcttggccacGtgcatggaccacatcatctt	8	13	5	0	rs61730771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152497088G>A	ENST00000172853.10	-	61	8613	c.8466C>T	c.(8464-8466)caC>caT	p.H2822H	NEB_ENST00000603639.1_Silent_p.H2822H|NEB_ENST00000409198.1_Silent_p.H2822H|NEB_ENST00000604864.1_Silent_p.H2822H|NEB_ENST00000397345.3_Silent_p.H2822H|NEB_ENST00000427231.2_Silent_p.H2822H			P20929	NEBU_HUMAN	nebulin	2822					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTGGCCACGTGCATGGACC	0.527													G|||	162	0.0323482	0.0575	0.0101	5008	,	,		17198	0.0079		0.0209	False		,,,				2504	0.0511				p.H2822H		Atlas-SNP	.											.	NEB	1697	.	0			c.C8466T						PASS	.	G	,,	162,3768		4,154,1807	280	263	269		8466,8466,8466	-5.7	0.9	2	dbSNP_129	269	151,8169		1,149,4010	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	5,303,5817	AA,AG,GG		1.8149,4.1221,2.5551	,,	2822/8526,2822/8526,2822/6670	152497088	313,11937	1965	4160	6125	SO:0001819	synonymous_variant	4703	exon61			GGCCACGTGCATG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8466C>T	2.37:g.152497088G>A		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	323	190	0.588235	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				G|0.977;A|0.023	0.023	strong		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152497088	G	A	152497088	2	1	22	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152497088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	562	152497088	90702285	1613	6721										
NEB	4703	hgsc.bcm.edu	37	chr2	152511874	152511874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttatctttattccaatcAatggtgtataaatgctagga	7	6	3	0	rs78733601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152511874A>C	ENST00000172853.10	-	51	6864	c.6717T>G	c.(6715-6717)atT>atG	p.I2239M	NEB_ENST00000603639.1_Missense_Mutation_p.I2239M|NEB_ENST00000409198.1_Missense_Mutation_p.I2239M|NEB_ENST00000604864.1_Missense_Mutation_p.I2239M|NEB_ENST00000397345.3_Missense_Mutation_p.I2239M|NEB_ENST00000427231.2_Missense_Mutation_p.I2239M			P20929	NEBU_HUMAN	nebulin	2239					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTCCAATCAATGGTGTATA	0.313													A|||	134	0.0267572	0.0333	0.0043	5008	,	,		13884	0.0843		0.001	False		,,,				2504	0.001				p.I2239M		Atlas-SNP	.											.	NEB	1697	.	0			c.T6717G						PASS	.	A	MET/ILE,MET/ILE,MET/ILE	98,3528		0,98,1715	88	76	80		6717,6717,6717	3.5	1	2	dbSNP_131	80	3,8165		0,3,4081	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	10,10,10	0,101,5796	CC,CA,AA		0.0367,2.7027,0.8564	benign,benign,benign	2239/8526,2239/8526,2239/6670	152511874	101,11693	1813	4084	5897	SO:0001583	missense	4703	exon51			CCAATCAATGGTG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6717T>G	2.37:g.152511874A>C	ENSP00000172853:p.Ile2239Met	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		64	0.029304029304029304	23	0.046747967479674794	2	0.0055248618784530384	38	0.06643356643356643	1	0.0013192612137203166	A	12.63	1.996087	0.35226	0.027027	3.67E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.81	3.48	0.39840	.	1.181470	0.05975	N	0.643070	T	0.02418	0.0074	N	0.08118	0	0.54753	D	0.999985	B	0.23442	0.085	B	0.40101	0.319	T	0.46317	-0.9200	10	0.54805	T	0.06	.	1.0374	0.01551	0.4314:0.2178:0.2206:0.1302	.	2239	P20929	NEBU_HUMAN	M	2239	ENSP00000386259:I2239M;ENSP00000380505:I2239M;ENSP00000416578:I2239M;ENSP00000172853:I2239M	ENSP00000172853:I2239M	I	-	3	3	NEB	152220120	0.967000	0.33354	0.989000	0.46669	0.983000	0.72400	1.167000	0.31847	1.042000	0.40150	0.477000	0.44152	ATT	A|0.970;C|0.030	0.030	strong		0.313	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152511874	A	C	152511874	3	2	22	1	0	0	0	0	1	0	0	0	10302	126	5	5	19497	5	NEB	2	152511874	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14786	152511874	90687499	1614	6722										
NEB	4703	hgsc.bcm.edu	37	chr2	152518847	152518847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcagcatagtcagccttGtactgattctgcaaaagagg	10	8	3	2	rs77547727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152518847G>A	ENST00000172853.10	-	46	5919	c.5772C>T	c.(5770-5772)taC>taT	p.Y1924Y	NEB_ENST00000603639.1_Silent_p.Y1924Y|NEB_ENST00000409198.1_Silent_p.Y1924Y|NEB_ENST00000604864.1_Silent_p.Y1924Y|NEB_ENST00000397345.3_Silent_p.Y1924Y|NEB_ENST00000427231.2_Silent_p.Y1924Y			P20929	NEBU_HUMAN	nebulin	1924					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTCAGCCTTGTACTGATTCT	0.398													G|||	135	0.0269569	0.034	0.0043	5008	,	,		17232	0.0843		0.001	False		,,,				2504	0.001				p.Y1924Y		Atlas-SNP	.											.	NEB	1697	.	0			c.C5772T						PASS	.	G	,,	101,3589		0,101,1744	84	80	81		5772,5772,5772	3	1	2	dbSNP_132	81	3,8185		0,3,4091	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,104,5835	AA,AG,GG		0.0366,2.7371,0.8756	,,	1924/8526,1924/8526,1924/6670	152518847	104,11774	1845	4094	5939	SO:0001819	synonymous_variant	4703	exon46			AGCCTTGTACTGA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5772C>T	2.37:g.152518847G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	128	63	0.492188	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				G|0.971;A|0.029	0.029	strong		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152518847	G	A	152518847	2	1	22	1	0	0	0	0	0	0	0	1	10302	1372	48	2		2	NEB	2	152518847	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6973	152518847	90680526	1615	6723										
NEB	4703	hgsc.bcm.edu	37	chr2	152527608	152527608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcacacttgtgaacttgaCggtatctgggtgctgtcgat	13	8	1	2	rs34577613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152527608C>T	ENST00000172853.10	-	38	4582	c.4435G>A	c.(4435-4437)Gtc>Atc	p.V1479I	NEB_ENST00000603639.1_Missense_Mutation_p.V1479I|NEB_ENST00000409198.1_Missense_Mutation_p.V1479I|NEB_ENST00000604864.1_Missense_Mutation_p.V1479I|NEB_ENST00000397345.3_Missense_Mutation_p.V1479I|NEB_ENST00000427231.2_Missense_Mutation_p.V1479I			P20929	NEBU_HUMAN	nebulin	1479			V -> I (in dbSNP:rs34577613).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V1479I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGAACTTGACGGTATCTGGG	0.483													T|||	1679	0.335264	0.4546	0.1095	5008	,	,		21763	0.5754		0.1223	False		,,,				2504	0.3057				p.V1479I		Atlas-SNP	.											NEB,NS,carcinoma,0,1	NEB	1697	1	1	Substitution - Missense(1)	stomach(1)	c.G4435A						PASS	.	T	ILE/VAL,ILE/VAL,ILE/VAL	1503,2705		261,981,862	164	163	163		4435,4435,4435	4.2	1	2	dbSNP_126	163	920,7532		58,804,3364	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	319,1785,4226	TT,TC,CC		10.885,35.7177,19.139	benign,benign,benign	1479/8526,1479/8526,1479/6670	152527608	2423,10237	2104	4226	6330	SO:0001583	missense	4703	exon38			ACTTGACGGTATC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4435G>A	2.37:g.152527608C>T	ENSP00000172853:p.Val1479Ile	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	255	253	0.992157	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		700	0.32051282051282054	243	0.49390243902439024	46	0.1270718232044199	322	0.5629370629370629	89	0.11741424802110818	T	5.418	0.262254	0.10239	0.357177	0.10885	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.5;3.53;3.53;3.54	5.42	4.25	0.50352	.	0.288297	0.32671	N	0.005787	T	0.00012	0.0000	N	0.00707	-1.245	0.09310	P	0.9999999999754821	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	9	0.10902	T	0.67	.	7.0714	0.25181	0.0:0.138:0.1258:0.7362	rs34577613;rs60727639	1479	P20929	NEBU_HUMAN	I	1479	ENSP00000386259:V1479I;ENSP00000380505:V1479I;ENSP00000416578:V1479I;ENSP00000172853:V1479I	ENSP00000172853:V1479I	V	-	1	0	NEB	152235854	0.007000	0.16637	1.000000	0.80357	0.802000	0.45316	0.019000	0.13444	0.997000	0.38969	-0.254000	0.11334	GTC	C|0.705;T|0.295	0.295	strong		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152527608	C	T	152527608	3	4	22	1	0	0	0	0	1	0	0	0	10302	536	19	1	21831	1	NEB	2	152527608	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8761	152527608	90671765	1616	6724										
NEB	4703	hgsc.bcm.edu	37	chr2	152547268	152547268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgtttcgtgttgagctgGgcttgcaacagtacaggaga	14	7	0	2	rs373946448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:152547268G>A	ENST00000172853.10	-	24	2430	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	NEB_ENST00000603639.1_Silent_p.A761A|NEB_ENST00000409198.1_Silent_p.A761A|NEB_ENST00000604864.1_Silent_p.A761A|NEB_ENST00000397345.3_Silent_p.A761A|NEB_ENST00000427231.2_Silent_p.A761A			P20929	NEBU_HUMAN	nebulin	761					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTGAGCTGGGCTTGCAACA	0.398													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18181	0.0		0.0	False		,,,				2504	0.0				p.A761A		Atlas-SNP	.											.	NEB	1697	.	0			c.C2283T						PASS	.	G	,,	11,3913		0,11,1951	112	112	112		2283,2283,2283	0.6	1	2		112	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,11,6102	AA,AG,GG		0.0,0.2803,0.09	,,	761/8526,761/8526,761/6670	152547268	11,12215	1962	4151	6113	SO:0001819	synonymous_variant	4703	exon24			GAGCTGGGCTTGC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2283C>T	2.37:g.152547268G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	170	91	0.535294	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				.	.	weak		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152547268	G	A	152547268	2	1	22	1	0	0	0	0	0	0	0	1	10302	1219	43	2		2	NEB	2	152547268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19660	152547268	90652105	1617	6725										
FMNL2	114793	hgsc.bcm.edu	37	chr2	153475556	153475556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttctggcacattgtccaTggggtcagaagtggtagcag	15	8	2	1	rs11897929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:153475556T>C	ENST00000288670.9	+	14	1878	c.1511T>C	c.(1510-1512)aTg>aCg	p.M504T	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	504			M -> T (in dbSNP:rs11897929).		cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACATTGTCCATGGGGTCAGAA	0.537													T|||	386	0.0770767	0.2769	0.0259	5008	,	,		16892	0.0		0.002	False		,,,				2504	0.0				p.M504T		Atlas-SNP	.											.	FMNL2	75	.	0			c.T1511C						PASS	.	T	THR/MET	828,3056		87,654,1201	67	70	69		1511	-2.1	0	2	dbSNP_120	69	3,8279		0,3,4138	yes	missense	FMNL2	NM_052905.3	81	87,657,5339	CC,CT,TT		0.0362,21.3182,6.8305	benign	504/1093	153475556	831,11335	1942	4141	6083	SO:0001583	missense	114793	exon14			TGTCCATGGGGTC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1511T>C	2.37:g.153475556T>C	ENSP00000288670:p.Met504Thr	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	172	93	0.540698	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	CCDS46429.1	136	0.06227106227106227	128	0.2601626016260163	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	T	0.957	-0.704556	0.03255	0.213182	3.62E-4	ENSG00000157827	ENST00000288670;ENST00000421344	D	0.90004	-2.6	5.57	-2.14	0.07123	.	0.947878	0.08957	N	0.869194	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.01520	-1.1334	9	0.13108	T	0.6	.	11.4827	0.50335	0.0:0.5749:0.0:0.4251	rs11897929;rs11897929	504	Q96PY5-3	.	T	504;1	ENSP00000288670:M504T	ENSP00000288670:M504T	M	+	2	0	FMNL2	153183802	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.531000	0.06171	-0.792000	0.04480	-0.973000	0.02599	ATG	T|0.920;C|0.080	0.080	strong		0.537	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		C	153475556	T	C	153475556	3	2	22	1	0	0	0	0	1	0	0	0	5952	1464	51	2	1565	2	FMNL2	2	153475556	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	928288	153475556	89723817	1618	6726										
GPD2	2820	hgsc.bcm.edu	37	chr2	157425931	157425931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataccataaatgctgctgtcAaaactcataatttaaaagca	4	8	2	0	rs35096779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:157425931A>C	ENST00000310454.6	+	11	1729	c.1357A>C	c.(1357-1359)Aaa>Caa	p.K453Q	GPD2_ENST00000409674.1_Missense_Mutation_p.K453Q|GPD2_ENST00000438166.2_Missense_Mutation_p.K453Q|GPD2_ENST00000409125.4_Missense_Mutation_p.K226Q|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	453			K -> Q (in dbSNP:rs35096779).		camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGCTGCTGTCAAAACTCATAA	0.423													A|||	166	0.033147	0.1165	0.0159	5008	,	,		17986	0.0		0.001	False		,,,				2504	0.0				p.K453Q		Atlas-SNP	.											.	GPD2	59	.	0			c.A1357C						PASS	.	A	GLN/LYS,GLN/LYS	527,3879	239.6+/-250.7	30,467,1706	79	78	78		1357,1357	3.3	0.8	2	dbSNP_126	78	6,8594	3.7+/-12.6	0,6,4294	yes	missense,missense	GPD2	NM_000408.4,NM_001083112.2	53,53	30,473,6000	CC,CA,AA		0.0698,11.961,4.0981	benign,benign	453/728,453/728	157425931	533,12473	2203	4300	6503	SO:0001583	missense	2820	exon11			GCTGTCAAAACTC		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1357A>C	2.37:g.157425931A>C	ENSP00000308610:p.Lys453Gln	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	63	0.028846153846153848	56	0.11382113821138211	7	0.019337016574585635	0	0.0	0	0.0	A	14.01	2.408743	0.42715	0.11961	6.98E-4	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.60171	0.21;0.42;0.21;0.21	5.78	3.34	0.38264	.	0.179590	0.56097	N	0.000021	T	0.00967	0.0032	L	0.48877	1.53	0.39253	D	0.96407	B	0.06786	0.001	B	0.13407	0.009	T	0.02288	-1.1182	10	0.52906	T	0.07	.	13.5438	0.61690	0.6092:0.3908:0.0:0.0	rs35096779	453	P43304	GPDM_HUMAN	Q	453;226;453;453	ENSP00000308610:K453Q;ENSP00000386484:K226Q;ENSP00000409708:K453Q;ENSP00000386425:K453Q	ENSP00000308610:K453Q	K	+	1	0	GPD2	157134177	0.997000	0.39634	0.775000	0.31657	0.987000	0.75469	2.271000	0.43364	0.427000	0.26145	0.528000	0.53228	AAA	A|0.963;C|0.037	0.037	strong		0.423	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			C	157425931	A	C	157425931	3	2	22	1	0	0	0	0	1	0	0	0	6606	131	5	5	1395	5	GPD2	2	157425931	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3950375	157425931	85773442	1619	6727										
GALNT5	11227	hgsc.bcm.edu	37	chr2	158140806	158140806	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcccagatgtgcagagcaGctagttcacaataacctccc	9	13	1	2	rs6759356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:158140806G>C	ENST00000259056.4	+	2	1952	c.1467G>C	c.(1465-1467)caG>caC	p.Q489H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	489			Q -> H (in dbSNP:rs6759356).		cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGCAGAGCAGCTAGTTCACA	0.463													G|||	756	0.150958	0.503	0.0749	5008	,	,		20315	0.002		0.0189	False		,,,				2504	0.0184				p.Q489H		Atlas-SNP	.											.	GALNT5	112	.	0			c.G1467C						PASS	.	G	HIS/GLN	1920,2486	548.8+/-377.6	446,1028,729	248	206	220		1467	-1	0.9	2	dbSNP_116	220	168,8432	77.5+/-140.1	3,162,4135	yes	missense	GALNT5	NM_014568.1	24	449,1190,4864	CC,CG,GG		1.9535,43.5769,16.0541	probably-damaging	489/941	158140806	2088,10918	2203	4300	6503	SO:0001583	missense	11227	exon2			AGAGCAGCTAGTT	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1467G>C	2.37:g.158140806G>C	ENSP00000259056:p.Gln489His	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	301	0.13782051282051283	260	0.5284552845528455	30	0.08287292817679558	0	0.0	11	0.014511873350923483	G	16.12	3.031917	0.54790	0.435769	0.019535	ENSG00000136542	ENST00000259056	T	0.59364	0.27	5.45	-1.03	0.10102	.	0.317119	0.22182	N	0.063498	T	0.00012	0.0000	M	0.72118	2.19	0.38267	P	0.057945000000000024	D	0.63880	0.993	P	0.58210	0.835	T	0.45687	-0.9244	9	0.59425	D	0.04	.	7.229	0.26033	0.4152:0.106:0.4787:0.0	rs6759356;rs52799205;rs6759356	489	Q7Z7M9	GALT5_HUMAN	H	489	ENSP00000259056:Q489H	ENSP00000259056:Q489H	Q	+	3	2	GALNT5	157849052	0.598000	0.26882	0.950000	0.38849	0.865000	0.49528	-0.172000	0.09868	-0.300000	0.08895	-0.140000	0.14226	CAG	G|0.851;C|0.149	0.149	strong		0.463	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		C	158140806	G	C	158140806	3	2	22	1	0	0	0	0	1	0	0	0	6216	962	34	4	1473	4	GALNT5	2	158140806	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	714875	158140806	85058567	1620	6728										
ACVR1C	130399	hgsc.bcm.edu	37	chr2	158390468	158390468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgacacaaagttgagataTagtcttcttaatacgaagag	8	5	2	3	rs7594480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:158390468T>C	ENST00000243349.8	-	9	1804	c.1444A>G	c.(1444-1446)Ata>Gta	p.I482V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.I432V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.I325V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I402V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AGTTGAGATATAGTCTTCTTA	0.403													T|||	761	0.151957	0.4357	0.1455	5008	,	,		16872	0.0		0.0686	False		,,,				2504	0.0153				p.I482V		Atlas-SNP	.											.	ACVR1C	85	.	0			c.A1444G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1658,2748	506.2+/-366.3	310,1038,855	97	106	103		1294,1204,973,1444	5.5	0.8	2	dbSNP_116	103	562,8038	153.0+/-207.5	29,504,3767	yes	missense,missense,missense,missense	ACVR1C	NM_001111031.1,NM_001111032.1,NM_001111033.1,NM_145259.2	29,29,29,29	339,1542,4622	CC,CT,TT		6.5349,37.6305,17.069	benign,benign,benign,benign	432/444,402/414,325/337,482/494	158390468	2220,10786	2203	4300	6503	SO:0001583	missense	130399	exon9			GAGATATAGTCTT	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1444A>G	2.37:g.158390468T>C	ENSP00000243349:p.Ile482Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_145259		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	307	0.14056776556776557	209	0.4247967479674797	48	0.13259668508287292	0	0.0	50	0.06596306068601583	T	15.05	2.717460	0.48622	0.376305	0.065349	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.91686	-2.34;-2.23;-2.89;-2.3	5.51	5.51	0.81932	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000064	T	0.00012	0.0000	L	0.49126	1.545	0.22975	P	0.99848377	B;B;B	0.23806	0.038;0.091;0.017	B;B;B	0.28465	0.09;0.066;0.05	T	0.01169	-1.1430	9	0.72032	D	0.01	.	15.2629	0.73637	0.0:0.0:0.0:1.0	rs7594480;rs52813590;rs7594480	325;402;482	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	482;432;325;402	ENSP00000243349:I482V;ENSP00000387168:I432V;ENSP00000335139:I325V;ENSP00000335178:I402V	ENSP00000243349:I482V	I	-	1	0	ACVR1C	158098714	0.993000	0.37304	0.832000	0.32986	0.996000	0.88848	2.177000	0.42509	2.080000	0.62538	0.482000	0.46254	ATA	T|0.843;C|0.157	0.157	strong		0.403	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		C	158390468	T	C	158390468	3	2	22	1	0	0	0	0	1	0	0	0	222	1406	49	2	41	2	ACVR1C	2	158390468	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	249662	158390468	84808905	1621	6729										
UPP2	151531	hgsc.bcm.edu	37	chr2	158958605	158958605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatacctgcctccaatagGtccatgagatctgacaggaa	9	10	1	2	rs6710480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:158958605G>T	ENST00000005756.4	+	1	224	c.30G>T	c.(28-30)agG>agT	p.R10S	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.R67S|UPP2_ENST00000605860.1_Missense_Mutation_p.R67S	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	10			R -> S (in dbSNP:rs6710480).		nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|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)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CCTCCAATAGGTCCATGAGAT	0.333													T|||	849	0.169529	0.3676	0.0576	5008	,	,		18023	0.1627		0.0408	False		,,,				2504	0.1207				p.R67S		Atlas-SNP	.											.	UPP2	60	.	0			c.G201T						PASS	.	T	SER/ARG,SER/ARG	1404,3002	685.7+/-404.6	239,926,1038	149	160	156		201,30	-1	0	2	dbSNP_116	156	252,8348	807.6+/-407.2	6,240,4054	yes	missense,missense	UPP2	NM_001135098.1,NM_173355.3	110,110	245,1166,5092	TT,TG,GG		2.9302,31.8656,12.7326	probably-damaging,probably-damaging	67/375,10/318	158958605	1656,11350	2203	4300	6503	SO:0001583	missense	151531	exon3			CAATAGGTCCATG	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.30G>T	2.37:g.158958605G>T	ENSP00000005756:p.Arg10Ser	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	102	49	0.480392	NM_001135098	B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	340	0.15567765567765568	207	0.42073170731707316	25	0.06906077348066299	84	0.14685314685314685	24	0.0316622691292876	T	0.005	-2.125537	0.00342	0.318656	0.029302	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.32272	1.46;1.56	5.67	-1.0	0.10196	.	0.631105	0.16810	N	0.198610	T	0.00012	0.0000	N	0.10874	0.06	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41270	-0.9518	9	0.06757	T	0.87	.	1.6005	0.02673	0.393:0.1422:0.3228:0.142	rs6710480;rs52815667;rs61084278;rs6710480	10	O95045	UPP2_HUMAN	S	67;10	ENSP00000387230:R67S;ENSP00000005756:R10S	ENSP00000005756:R10S	R	+	3	2	UPP2	158666851	0.138000	0.22547	0.000000	0.03702	0.004000	0.04260	0.306000	0.19279	-0.421000	0.07416	-2.990000	0.00078	AGG	G|0.846;T|0.154	0.154	strong		0.333	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		T	158958605	G	T	158958605	3	4	22	1	0	0	0	0	1	0	0	0	17010	1252	44	4	211	4	UPP2	2	158958605	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	568137	158958605	84240768	1622	6730										
UPP2	151531	hgsc.bcm.edu	37	chr2	158971664	158971664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaagcatttgcactgtttAtgcacaaggagctcgggttt	11	7	0	1	rs7561584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:158971664A>C	ENST00000005756.4	+	3	426	c.232A>C	c.(232-234)Atg>Ctg	p.M78L	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.M135L|UPP2_ENST00000605860.1_Missense_Mutation_p.M135L	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	78			M -> L (in dbSNP:rs7561584).		nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|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)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGCACTGTTTATGCACAAGGA	0.458													A|||	24	0.00479233	0.0166	0.0029	5008	,	,		14199	0.0		0.0	False		,,,				2504	0.0				p.M135L		Atlas-SNP	.											.	UPP2	60	.	0			c.A403C						PASS	.	A	LEU/MET,LEU/MET	83,4323	70.9+/-108.8	2,79,2122	104	104	104		232,403	4.5	0.9	2	dbSNP_116	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	UPP2	NM_173355.3,NM_001135098.1	15,15	2,82,6419	CC,CA,AA		0.0349,1.8838,0.6612	benign,benign	78/318,135/375	158971664	86,12920	2203	4300	6503	SO:0001583	missense	151531	exon5			CTGTTTATGCACA	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.232A>C	2.37:g.158971664A>C	ENSP00000005756:p.Met78Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	35	0.397727	NM_001135098	B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	A	6.495	0.459468	0.12342	0.018838	3.49E-4	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.35421	1.31;1.31	5.7	4.53	0.55603	Nucleoside phosphorylase domain (1);	0.153191	0.64402	D	0.000007	T	0.10294	0.0252	N	0.12961	0.28	0.46317	D	0.998983	B	0.06786	0.001	B	0.08055	0.003	T	0.04128	-1.0975	10	0.11794	T	0.64	.	11.9742	0.53081	0.8546:0.1454:0.0:0.0	rs7561584;rs7561584	78	O95045	UPP2_HUMAN	L	135;78	ENSP00000387230:M135L;ENSP00000005756:M78L	ENSP00000005756:M78L	M	+	1	0	UPP2	158679910	1.000000	0.71417	0.940000	0.37924	0.318000	0.28184	5.969000	0.70422	0.974000	0.38366	0.533000	0.62120	ATG	A|0.994;C|0.006	0.006	strong		0.458	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		C	158971664	A	C	158971664	3	2	22	1	0	0	0	0	1	0	0	0	17010	449	16	5	421	5	UPP2	2	158971664	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13059	158971664	84227709	1623	6731										
UPP2	151531	hgsc.bcm.edu	37	chr2	158977928	158977928	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccacattgcagggattgcAccagggactgttgtaataac	10	10	0	0	rs10186677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:158977928A>C	ENST00000005756.4	+	5	656	c.462A>C	c.(460-462)gcA>gcC	p.A154A	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Silent_p.A211A|UPP2_ENST00000605860.1_Silent_p.A211A	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	154					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|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)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CAGGGATTGCACCAGGGACTG	0.383													A|||	84	0.0167732	0.0605	0.0058	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.0				p.A211A		Atlas-SNP	.											.	UPP2	60	.	0			c.A633C						PASS	.	A	,	210,4196	129.0+/-165.8	5,200,1998	201	207	205		633,462	-4.8	0	2	dbSNP_119	205	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,coding-synonymous	UPP2	NM_001135098.1,NM_173355.3	,	5,204,6293	CC,CA,AA		0.0465,4.7662,1.6456	,	211/375,154/318	158977928	214,12790	2203	4299	6502	SO:0001819	synonymous_variant	151531	exon7			GATTGCACCAGGG	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.462A>C	2.37:g.158977928A>C		Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	303	185	0.610561	NM_001135098	B3KV87	Silent	SNP	ENST00000005756.4	37	CCDS2207.1																																																																																			A|0.980;C|0.020	0.020	strong		0.383	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		C	158977928	A	C	158977928	2	2	22	1	0	0	0	0	0	0	0	1	17010	146	6	5		5	UPP2	2	158977928	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6264	158977928	84221445	1624	6732										
TANC1	85461	hgsc.bcm.edu	37	chr2	160019901	160019901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagggagtgcttcatgacCgcagggcagataactgctcc	13	10	1	3	rs55929944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160019901C>T	ENST00000263635.6	+	8	1027	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	TANC1_ENST00000454300.1_Missense_Mutation_p.R158C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	264					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTTCATGACCGCAGGGCAGA	0.522													C|||	163	0.0325479	0.1172	0.0086	5008	,	,		19708	0.0		0.002	False		,,,				2504	0.0				p.R264C		Atlas-SNP	.											.	TANC1	157	.	0			c.C790T						PASS	.	C	CYS/ARG,CYS/ARG	436,3492		33,370,1561	74	79	77		787,790	6	1	2	dbSNP_129	77	2,8292		0,2,4145	yes	missense,missense	TANC1	NM_001145909.1,NM_033394.2	180,180	33,372,5706	TT,TC,CC		0.0241,11.0998,3.5837	probably-damaging,probably-damaging	263/1391,264/1862	160019901	438,11784	1964	4147	6111	SO:0001583	missense	85461	exon8			CATGACCGCAGGG	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.790C>T	2.37:g.160019901C>T	ENSP00000263635:p.Arg264Cys	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	278	165	0.593525	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	62	0.028388278388278388	57	0.11585365853658537	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	15.63	2.890072	0.52014	0.110998	2.41E-4	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70869	-0.51;-0.52	6.04	6.04	0.98038	.	0.113037	0.64402	D	0.000007	T	0.02455	0.0075	L	0.54323	1.7	0.80722	D	1	B;B	0.24721	0.066;0.11	B;B	0.17722	0.01;0.019	T	0.25710	-1.0124	10	0.66056	D	0.02	.	20.5948	0.99439	0.0:1.0:0.0:0.0	rs55929944	263;264	B9EK39;Q9C0D5	.;TANC1_HUMAN	C	158;264	ENSP00000396339:R158C;ENSP00000263635:R264C	ENSP00000263635:R264C	R	+	1	0	TANC1	159728147	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.696000	0.54757	2.873000	0.98535	0.563000	0.77884	CGC	C|0.971;T|0.029	0.029	strong		0.522	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	160019901	C	T	160019901	3	4	22	1	0	0	0	0	1	0	0	0	15541	652	23	1	812	1	TANC1	2	160019901	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1041973	160019901	83179472	1625	6733										
TANC1	85461	hgsc.bcm.edu	37	chr2	160087410	160087410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggataactaagactgtttctCatctgtaccaggaaagtatc	8	8	2	1	rs77049231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160087410C>T	ENST00000263635.6	+	27	5710	c.5473C>T	c.(5473-5475)Cat>Tat	p.H1825Y	TANC1_ENST00000454300.1_Missense_Mutation_p.H1719Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1825					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGTTTCTCATCTGTACCA	0.453													C|||	220	0.0439297	0.1611	0.0086	5008	,	,		18665	0.0		0.001	False		,,,				2504	0.0				p.H1825Y		Atlas-SNP	.											.	TANC1	157	.	0			c.C5473T						PASS	.	C	,TYR/HIS	476,3394		31,414,1490	76	77	77		,5473	5.2	0	2	dbSNP_131	77	2,8310		0,2,4154	yes	utr-3,missense	TANC1	NM_001145909.1,NM_033394.2	,83	31,416,5644	TT,TC,CC		0.0241,12.2997,3.9238	,possibly-damaging	,1825/1862	160087410	478,11704	1935	4156	6091	SO:0001583	missense	85461	exon27			GTTTCTCATCTGT	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5473C>T	2.37:g.160087410C>T	ENSP00000263635:p.His1825Tyr	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	165	94	0.569697	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	66	0.03021978021978022	64	0.13008130081300814	2	0.0055248618784530384	0	0.0	0	0.0	C	13.58	2.280696	0.40294	0.122997	2.41E-4	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.71817	-0.59;-0.6	6.06	5.18	0.71444	.	0.096342	0.64402	D	0.000001	T	0.01489	0.0048	L	0.56769	1.78	0.23003	P	0.99844134	D	0.56521	0.976	B	0.40636	0.335	T	0.33675	-0.9859	8	.	.	.	.	17.4939	0.87712	0.0:0.876:0.124:0.0	.	1825	Q9C0D5	TANC1_HUMAN	Y	1719;1825	ENSP00000396339:H1719Y;ENSP00000263635:H1825Y	.	H	+	1	0	TANC1	159795656	1.000000	0.71417	0.030000	0.17652	0.010000	0.07245	5.453000	0.66645	1.559000	0.49555	0.655000	0.94253	CAT	C|0.980;T|0.020	0.020	strong		0.453	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	160087410	C	T	160087410	3	4	22	1	0	0	0	0	1	0	0	0	15541	826	29	2	5576	2	TANC1	2	160087410	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67509	160087410	83111963	1626	6734										
WDSUB1	151525	hgsc.bcm.edu	37	chr2	160104988	160104988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggtcctgagctcttcaaTtttcctcagcactttactac	5	13	3	1	rs74475652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160104988T>C	ENST00000409990.3	-	10	1424	c.1168A>G	c.(1168-1170)Att>Gtt	p.I390V	WDSUB1_ENST00000359774.4_Missense_Mutation_p.I390V|WDSUB1_ENST00000392796.3_Missense_Mutation_p.I390V|WDSUB1_ENST00000358147.4_Missense_Mutation_p.I298V|WDSUB1_ENST00000409124.1_Intron	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	390	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AGCTCTTCAATTTTCCTCAGC	0.388													T|||	219	0.04373	0.1604	0.0086	5008	,	,		19089	0.0		0.001	False		,,,				2504	0.0				p.I390V		Atlas-SNP	.											.	WDSUB1	39	.	0			c.A1168G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE	583,3823	258.3+/-262.4	45,493,1665	100	101	101		1168,1168,1168	3.5	1	2	dbSNP_131	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	WDSUB1	NM_001128212.1,NM_001128213.1,NM_152528.2	29,29,29	45,495,5963	CC,CT,TT		0.0233,13.232,4.4979	benign,benign,benign	390/477,390/477,390/477	160104988	585,12421	2203	4300	6503	SO:0001583	missense	151525	exon10			CTTCAATTTTCCT	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1168A>G	2.37:g.160104988T>C	ENSP00000387078:p.Ile390Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	64	0.029304029304029304	62	0.12601626016260162	2	0.0055248618784530384	0	0.0	0	0.0	T	11.96	1.793785	0.31685	0.13232	2.33E-4	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.97	3.55	0.40652	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.114020	0.64402	N	0.000011	T	0.00552	0.0018	M	0.64997	1.995	0.09310	P	1.0	B;B	0.24258	0.009;0.1	B;B	0.28465	0.007;0.09	T	0.08785	-1.0705	9	0.38643	T	0.18	.	10.5342	0.44994	0.0:0.132:0.0:0.868	.	298;390	Q8N9V3-2;Q8N9V3	.;WSDU1_HUMAN	V	390;298;390;390	ENSP00000352820:I390V;ENSP00000350866:I298V;ENSP00000376545:I390V;ENSP00000387078:I390V	ENSP00000350866:I298V	I	-	1	0	WDSUB1	159813234	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	3.080000	0.50112	0.486000	0.27676	0.528000	0.53228	ATT	T|0.958;C|0.042	0.042	strong		0.388	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		C	160104988	T	C	160104988	3	2	22	1	0	0	0	0	1	0	0	0	17338	1493	52	2	270	2	WDSUB1	2	160104988	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17578	160104988	83094385	1627	6735										
WDSUB1	151525	hgsc.bcm.edu	37	chr2	160132089	160132089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaagaaacaatccaaattTtgacttggcaatcctgacca	5	9	0	3	rs16843852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160132089T>G	ENST00000409990.3	-	4	900	c.644A>C	c.(643-645)aAa>aCa	p.K215T	WDSUB1_ENST00000409124.1_Missense_Mutation_p.K215T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.K215T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.K215T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.K215T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	215			K -> T (in dbSNP:rs16843852).				ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AATCCAAATTTTGACTTGGCA	0.299													T|||	1023	0.204273	0.4372	0.0663	5008	,	,		15109	0.2252		0.0348	False		,,,				2504	0.1401				p.K215T		Atlas-SNP	.											.	WDSUB1	39	.	0			c.A644C						PASS	.	T	THR/LYS,THR/LYS,THR/LYS	1677,2729	507.9+/-366.8	328,1021,854	80	84	82		644,644,644	5.5	1	2	dbSNP_123	82	380,8218	123.6+/-182.4	6,368,3925	yes	missense,missense,missense	WDSUB1	NM_001128212.1,NM_001128213.1,NM_152528.2	78,78,78	334,1389,4779	GG,GT,TT		4.4196,38.0617,15.8182	probably-damaging,probably-damaging,probably-damaging	215/477,215/477,215/477	160132089	2057,10947	2203	4299	6502	SO:0001583	missense	151525	exon4			CAAATTTTGACTT	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.644A>C	2.37:g.160132089T>G	ENSP00000387078:p.Lys215Thr	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	150	55	0.366667	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	418	0.19139194139194138	218	0.44308943089430897	34	0.09392265193370165	137	0.2395104895104895	29	0.03825857519788918	T	19.79	3.892238	0.72524	0.380617	0.044196	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043164	0.85682	D	0.000000	T	0.00012	0.0000	M	0.79123	2.44	0.21841	P	0.999517151	D;D;D	0.71674	0.997;0.998;0.975	P;P;P	0.61592	0.883;0.891;0.677	T	0.45175	-0.9279	9	0.42905	T	0.14	.	10.2792	0.43530	0.0:0.074:0.0:0.926	rs16843852;rs52823421;rs16843852	215;215;215	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	T	215	ENSP00000352820:K215T;ENSP00000350866:K215T;ENSP00000376545:K215T;ENSP00000387078:K215T;ENSP00000386891:K215T	ENSP00000350866:K215T	K	-	2	0	WDSUB1	159840335	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.292000	0.59031	2.209000	0.71365	0.533000	0.62120	AAA	G|0.185;N|0.000	0.185	strong		0.299	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		G	160132089	T	G	160132089	3	3	22	1	0	0	0	0	1	0	0	0	17338	1841	64	5	818	5	WDSUB1	2	160132089	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27101	160132089	83067284	1628	6736										
BAZ2B	29994	hgsc.bcm.edu	37	chr2	160287443	160287443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgactgggattcagaacAtaaggcagcaggagcagagc	15	7	1	3	rs200904019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160287443A>C	ENST00000392783.2	-	10	2620	c.2125T>G	c.(2125-2127)Tgt>Ggt	p.C709G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.C707G|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C709G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GATTCAGAACATAAGGCAGCA	0.453													A|||	6	0.00119808	0.0045	0.0	5008	,	,		18357	0.0		0.0	False		,,,				2504	0.0				p.C709G		Atlas-SNP	.											.	BAZ2B	196	.	0			c.T2125G						PASS	.	A	GLY/CYS	20,3846		0,20,1913	145	144	144		2125	5.7	1	2		144	0,8272		0,0,4136	yes	missense	BAZ2B	NM_013450.2	159	0,20,6049	CC,CA,AA		0.0,0.5173,0.1648	probably-damaging	709/2169	160287443	20,12118	1933	4136	6069	SO:0001583	missense	29994	exon10			CAGAACATAAGGC	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2125T>G	2.37:g.160287443A>C	ENSP00000376534:p.Cys709Gly	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	162	70	0.432099	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	A	14.89	2.670797	0.47781	0.005173	0.0	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.21191	2.02;2.02;2.02	5.71	5.71	0.89125	.	0.000000	0.40222	U	0.001146	T	0.27063	0.0663	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.996;0.978;0.998	P;D;D	0.75484	0.889;0.922;0.986	T	0.02398	-1.1165	10	0.25751	T	0.34	-8.1218	15.968	0.79987	1.0:0.0:0.0:0.0	.	513;707;709	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	G	707;709;709	ENSP00000376533:C707G;ENSP00000376534:C709G;ENSP00000348087:C709G	ENSP00000348087:C709G	C	-	1	0	BAZ2B	159995689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.327000	0.52045	2.175000	0.68902	0.523000	0.50628	TGT	A|0.998;C|0.002	0.002	strong		0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160287443	A	C	160287443	3	2	22	1	0	0	0	0	1	0	0	0	1332	217	8	5	4493	5	BAZ2B	2	160287443	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	155354	160287443	82911930	1629	6737										
LY75	4065	hgsc.bcm.edu	37	chr2	160673405	160673405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccattttggttgtgaacgCttgccaagtgacctccactt	10	11	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160673405C>T	ENST00000263636.4	-	30	4319	c.4292G>A	c.(4291-4293)aGc>aAc	p.S1431N	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1431N|LY75_ENST00000554112.1_Missense_Mutation_p.S1431N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1431N|LY75_ENST00000553424.1_Missense_Mutation_p.S1431N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1431	C-type lectin 9. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTTGTGAACGCTTGCCAAGTG	0.388																																					p.S1431N		Atlas-SNP	.											LY75,NS,carcinoma,-1,1	LY75	151	1	0			c.G4292A						scavenged	.						156	153	154					2																	160673405		2203	4300	6503	SO:0001583	missense	4065	exon30			TGAACGCTTGCCA	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4292G>A	2.37:g.160673405C>T	ENSP00000263636:p.Ser1431Asn	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	146	3	0.0205479	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453325	0.84209	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.89	5.89	0.94794	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.41294	D	0.000908	T	0.61540	0.2355	H	0.94306	3.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.994	T	0.71705	-0.4512	10	0.87932	D	0	-22.4771	19.8311	0.96636	0.0:1.0:0.0:0.0	.	1431;1431;1431	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	N	1431	ENSP00000451511:S1431N;ENSP00000451446:S1431N;ENSP00000263636:S1431N;ENSP00000423463:S1431N;ENSP00000421035:S1431N	ENSP00000423463:S1431N	S	-	2	0	LY75;LY75-CD302	160381651	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.614000	0.54160	2.787000	0.95880	0.650000	0.86243	AGC	.	.	none		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160673405	C	T	160673405	3	4	22	1	0	0	0	0	1	0	0	0	9099	797	28	2	900	2	LY75	2	160673405	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	385962	160673405	82525968	1630	6738										
LY75	4065	hgsc.bcm.edu	37	chr2	160676350	160676350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttaaaccagccaaaaacTtctcattttttatagttggt	4	8	1	0	rs17827158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160676350T>C	ENST00000263636.4	-	29	4067	c.4040A>G	c.(4039-4041)aAg>aGg	p.K1347R	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1347R|LY75_ENST00000554112.1_Missense_Mutation_p.K1347R|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1347R|LY75_ENST00000553424.1_Missense_Mutation_p.K1347R	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1347	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.		K -> R (in dbSNP:rs17827158).		endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGCCAAAAACTTCTCATTTTT	0.363													T|||	365	0.0728834	0.0567	0.0807	5008	,	,		17662	0.0079		0.1044	False		,,,				2504	0.1237				p.K1347R		Atlas-SNP	.											.	LY75	151	.	0			c.A4040G						PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS	309,4097	162.9+/-194.8	17,275,1911	81	86	84		4040,4040,4040	2	0.1	2	dbSNP_123	84	901,7699	202.1+/-245.5	52,797,3451	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	26,26,26	69,1072,5362	CC,CT,TT		10.4767,7.0132,9.3034	benign,benign,benign	1347/1874,1347/1818,1347/1723	160676350	1210,11796	2203	4300	6503	SO:0001583	missense	4065	exon29			AAAAACTTCTCAT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4040A>G	2.37:g.160676350T>C	ENSP00000263636:p.Lys1347Arg	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	174	67	0.385057	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	161	0.07371794871794872	38	0.07723577235772358	45	0.12430939226519337	3	0.005244755244755245	75	0.09894459102902374	T	8.685	0.905974	0.17760	0.070132	0.104767	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.65	1.98	0.26296	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.00073	0.0002	L	0.32530	0.975	0.80722	P	0.0	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.14023	0.009;0.01;0.006	T	0.42916	-0.9423	8	0.15952	T	0.53	-4.5352	1.4096	0.02288	0.1352:0.206:0.1403:0.5185	rs17827158;rs52833817;rs17827158	1347;1347;1347	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	R	1347	ENSP00000451511:K1347R;ENSP00000451446:K1347R;ENSP00000263636:K1347R;ENSP00000423463:K1347R;ENSP00000421035:K1347R	ENSP00000423463:K1347R	K	-	2	0	LY75;LY75-CD302	160384596	0.000000	0.05858	0.114000	0.21550	0.746000	0.42486	0.646000	0.24797	0.403000	0.25479	0.482000	0.46254	AAG	T|0.915;C|0.085	0.085	strong		0.363	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160676350	T	C	160676350	3	2	22	1	0	0	0	0	1	0	0	0	9099	1609	56	3	1156	3	LY75	2	160676350	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2945	160676350	82523023	1631	6739										
LY75	4065	hgsc.bcm.edu	37	chr2	160690646	160690646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtagcaacagttctgaaaTggtatccacggagtatttag	10	6	1	1	rs6722188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160690646T>C	ENST00000263636.4	-	27	3777	c.3750A>G	c.(3748-3750)ccA>ccG	p.P1250P	LY75-CD302_ENST00000505052.1_Silent_p.P1250P|LY75_ENST00000554112.1_Silent_p.P1250P|LY75-CD302_ENST00000504764.1_Silent_p.P1250P|LY75_ENST00000553424.1_Silent_p.P1250P	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1250					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGTTCTGAAATGGTATCCACG	0.353													T|||	553	0.110423	0.4024	0.0288	5008	,	,		20151	0.0		0.001	False		,,,				2504	0.0				p.P1250P		Atlas-SNP	.											.	LY75	151	.	0			c.A3750G						PASS	.	T	,,	1532,2874	485.3+/-360.3	266,1000,937	145	134	138		3750,3750,3750	-4.4	1	2	dbSNP_116	138	18,8582	11.9+/-42.8	0,18,4282	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	266,1018,5219	CC,CT,TT		0.2093,34.7708,11.9176	,,	1250/1874,1250/1818,1250/1723	160690646	1550,11456	2203	4300	6503	SO:0001819	synonymous_variant	4065	exon27			CTGAAATGGTATC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3750A>G	2.37:g.160690646T>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	150	86	0.573333	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																			T|0.880;C|0.120	0.120	strong		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160690646	T	C	160690646	2	2	22	1	0	0	0	0	0	0	0	1	9099	1451	51	2		2	LY75	2	160690646	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14296	160690646	82508727	1632	6740										
LY75	4065	hgsc.bcm.edu	37	chr2	160735775	160735775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggattttacctacctcatCtggaggacacatcttatcag	8	10	4	0	rs77761086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160735775C>T	ENST00000263636.4	-	9	1537	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D504N|LY75_ENST00000554112.1_Missense_Mutation_p.D504N|LY75_ENST00000553424.1_Missense_Mutation_p.D504N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D504N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	504	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCTACCTCATCTGGAGGACAC	0.353													C|||	26	0.00519169	0.0197	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.0				p.D504N		Atlas-SNP	.											.	LY75	151	.	0			c.G1510A						PASS	.	C	ASN/ASP,ASN/ASP,ASN/ASP	59,4345	58.1+/-94.6	0,59,2143	199	183	189		1510,1510,1510	2.4	0.4	2	dbSNP_131	189	0,8598		0,0,4299	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	23,23,23	0,59,6442	TT,TC,CC		0.0,1.3397,0.4538	benign,benign,benign	504/1874,504/1818,504/1723	160735775	59,12943	2202	4299	6501	SO:0001583	missense	4065	exon9			CCTCATCTGGAGG	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1510G>A	2.37:g.160735775C>T	ENSP00000263636:p.Asp504Asn	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	92	35	0.380435	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	4.816	0.151794	0.09185	0.013397	0.0	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.55413	0.52;3.0;2.98;0.52;3.0	5.4	2.44	0.29823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	1.063440	0.07525	N	0.911197	T	0.41096	0.1144	M	0.82056	2.57	0.09310	N	1	B;B;B;B	0.16603	0.001;0.018;0.018;0.007	B;B;B;B	0.22386	0.005;0.039;0.017;0.009	T	0.44221	-0.9342	10	0.34782	T	0.22	-1.7808	11.0531	0.47903	0.0:0.6813:0.0:0.3187	.	122;504;504;504	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	N	504	ENSP00000451511:D504N;ENSP00000451446:D504N;ENSP00000263636:D504N;ENSP00000423463:D504N;ENSP00000421035:D504N	ENSP00000423463:D504N	D	-	1	0	LY75;LY75-CD302	160444021	0.095000	0.21747	0.411000	0.26484	0.053000	0.15095	0.244000	0.18124	0.025000	0.15241	-1.595000	0.00837	GAT	C|0.994;T|0.006	0.006	strong		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160735775	C	T	160735775	3	4	22	1	0	0	0	0	1	0	0	0	9099	913	32	2	3766	2	LY75	2	160735775	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45129	160735775	82463598	1633	6741										
LY75	4065	hgsc.bcm.edu	37	chr2	160737717	160737717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataaagttggtatgtttatGttcttaaggcctatccacac	7	7	1	0	rs79199281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160737717G>A	ENST00000263636.4	-	8	1308	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	LY75-CD302_ENST00000505052.1_Silent_p.N427N|LY75_ENST00000554112.1_Silent_p.N427N|LY75-CD302_ENST00000504764.1_Silent_p.N427N|LY75_ENST00000553424.1_Silent_p.N427N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	427	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTATGTTTATGTTCTTAAGGC	0.323													G|||	26	0.00519169	0.0197	0.0	5008	,	,		19352	0.0		0.0	False		,,,				2504	0.0				p.N427N		Atlas-SNP	.											.	LY75	151	.	0			c.C1281T						PASS	.	G	,,	59,4347	58.1+/-94.6	0,59,2144	177	164	168		1281,1281,1281	1.9	1	2	dbSNP_131	168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,59,6444	AA,AG,GG		0.0,1.3391,0.4536	,,	427/1874,427/1818,427/1723	160737717	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	4065	exon8			GTTTATGTTCTTA	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1281C>T	2.37:g.160737717G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	89	23	0.258427	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																			G|0.994;A|0.006	0.006	strong		0.323	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160737717	G	A	160737717	2	1	22	1	0	0	0	0	0	0	0	1	9099	1368	48	2		2	LY75	2	160737717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1942	160737717	82461656	1634	6742										
LY75	4065	hgsc.bcm.edu	37	chr2	160738803	160738803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccagcctgcatcacagcGggtatctgagtatgtccaga	11	12	2	2	rs35675007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160738803G>A	ENST00000263636.4	-	7	1105	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R360C|LY75_ENST00000554112.1_Missense_Mutation_p.R360C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R360C|LY75_ENST00000553424.1_Missense_Mutation_p.R360C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	360					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCATCACAGCGGGTATCTGAG	0.398													G|||	19	0.00379393	0.0121	0.0	5008	,	,		22106	0.001		0.0	False		,,,				2504	0.002				p.R360C		Atlas-SNP	.											LY75,NS,carcinoma,+1,1	LY75	151	1	0			c.C1078T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	44,4362	48.2+/-83.0	0,44,2159	114	111	112		1078,1078,1078	5.6	0.9	2	dbSNP_126	112	16,8584	11.9+/-42.8	0,16,4284	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	180,180,180	0,60,6443	AA,AG,GG		0.186,0.9986,0.4613	possibly-damaging,possibly-damaging,possibly-damaging	360/1874,360/1818,360/1723	160738803	60,12946	2203	4300	6503	SO:0001583	missense	4065	exon7			CACAGCGGGTATC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1078C>T	2.37:g.160738803G>A	ENSP00000263636:p.Arg360Cys	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	77	27	0.350649	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	17.54	3.416115	0.62511	0.009986	0.00186	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.57	5.57	0.84162	C-type lectin-like (1);	1.087950	0.07314	U	0.876324	T	0.14399	0.0348	L	0.43152	1.355	0.19300	N	0.99998	B;D;D	0.76494	0.272;0.999;0.999	B;P;P	0.56278	0.072;0.724;0.795	T	0.29912	-0.9996	10	0.54805	T	0.06	0.0491	14.2185	0.65809	0.0:0.2692:0.7308:0.0	rs35675007	360;360;360	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	C	360	ENSP00000451511:R360C;ENSP00000451446:R360C;ENSP00000263636:R360C;ENSP00000423463:R360C;ENSP00000421035:R360C	ENSP00000423463:R360C	R	-	1	0	LY75;LY75-CD302	160447049	0.995000	0.38212	0.857000	0.33713	0.986000	0.74619	2.505000	0.45424	2.632000	0.89209	0.650000	0.86243	CGC	G|0.996;A|0.004	0.004	strong		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160738803	G	A	160738803	3	1	22	1	0	0	0	0	1	0	0	0	9099	1116	39	1	4206	1	LY75	2	160738803	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1086	160738803	82460570	1635	6743										
PLA2R1	22925	hgsc.bcm.edu	37	chr2	160901403	160901403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctggacagagtactgcagCgggcctgtgatcatcttcct	11	12	2	2	rs35005192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160901403C>T	ENST00000283243.7	-	2	581	c.375G>A	c.(373-375)ccG>ccA	p.P125P	PLA2R1_ENST00000392771.1_Silent_p.P125P	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	125	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTACTGCAGCGGGCCTGTGA	0.502													C|||	27	0.00539137	0.0204	0.0	5008	,	,		17735	0.0		0.0	False		,,,				2504	0.0				p.P125P		Atlas-SNP	.											.	PLA2R1	153	.	0			c.G375A						PASS	.	C	,,	59,4347	56.8+/-93.2	0,59,2144	82	82	82		375,375,375	-12.1	0	2	dbSNP_126	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2R1	NM_001007267.2,NM_001195641.1,NM_007366.4	,,	0,59,6444	TT,TC,CC		0.0,1.3391,0.4536	,,	125/1325,125/1462,125/1464	160901403	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	22925	exon2			CTGCAGCGGGCCT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.375G>A	2.37:g.160901403C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	137	58	0.423358	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																			C|0.994;T|0.006	0.006	strong		0.502	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			T	160901403	C	T	160901403	2	4	22	1	0	0	0	0	0	0	0	1	12010	755	27	1		1	PLA2R1	2	160901403	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	162600	160901403	82297970	1636	6744										
ITGB6	3694	hgsc.bcm.edu	37	chr2	160968628	160968628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatgatggttttcccctcAttatctgtagttattaggaa	8	6	2	2	rs16844790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:160968628A>G	ENST00000283249.2	-	13	2301	c.2064T>C	c.(2062-2064)aaT>aaC	p.N688N	ITGB6_ENST00000409872.1_Silent_p.N688N|ITGB6_ENST00000428609.2_Silent_p.N646N|ITGB6_ENST00000409967.2_Silent_p.N581N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	688					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTTTCCCCTCATTATCTGTAG	0.403													A|||	1074	0.214457	0.2247	0.4222	5008	,	,		18655	0.1796		0.1551	False		,,,				2504	0.1503				p.N688N		Atlas-SNP	.											.	ITGB6	68	.	0			c.T2064C						PASS	.	A		927,3479	355.4+/-313.0	96,735,1372	220	199	206		2064	-6.7	1	2	dbSNP_123	206	1501,7099	283.6+/-296.2	144,1213,2943	no	coding-synonymous	ITGB6	NM_000888.3		240,1948,4315	GG,GA,AA		17.4535,21.0395,18.6683		688/789	160968628	2428,10578	2203	4300	6503	SO:0001819	synonymous_variant	3694	exon13			CCCCTCATTATCT		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2064T>C	2.37:g.160968628A>G		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	177	89	0.502825	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	CCDS2212.1																																																																																			A|0.805;G|0.195	0.195	strong		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		G	160968628	A	G	160968628	2	3	22	1	0	0	0	0	0	0	0	1	7899	214	8	2		2	ITGB6	2	160968628	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67225	160968628	82230745	1637	6745										
TANK	10010	hgsc.bcm.edu	37	chr2	162088034	162088034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccctcactcgattcccCgggaaaagcaatccgaggac	8	14	1	0	rs2229759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:162088034C>T	ENST00000392749.2	+	7	1312	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.P358L|TANK_ENST00000259075.2_Missense_Mutation_p.P358L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	358			P -> L (in dbSNP:rs2229759).		I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCGATTCCCCGGGAAAAGCA	0.433													C|||	128	0.0255591	0.0938	0.0058	5008	,	,		19086	0.0		0.0	False		,,,				2504	0.0				p.P358L		Atlas-SNP	.											TANK,NS,carcinoma,-1,1	TANK	35	1	0			c.C1073T						PASS	.	C	LEU/PRO,LEU/PRO	230,4176	129.8+/-166.5	4,222,1977	45	45	45		1073,1073	5.6	1	2	dbSNP_98	45	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense	TANK	NM_001199135.1,NM_004180.2	98,98	4,225,6273	TT,TC,CC		0.0349,5.2202,1.7918	probably-damaging,probably-damaging	358/426,358/426	162088034	233,12771	2203	4299	6502	SO:0001583	missense	10010	exon7			ATTCCCCGGGAAA	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1073C>T	2.37:g.162088034C>T	ENSP00000376505:p.Pro358Leu	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	24	12	0.5	NM_004180	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	49	0.022435897435897436	47	0.09552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	16.38	3.106713	0.56291	0.052202	3.49E-4	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.35973	1.68;1.68;1.29;1.28;1.61	5.57	5.57	0.84162	.	0.280521	0.34460	N	0.003944	T	0.01489	0.0048	L	0.59436	1.845	0.80722	D	1	D	0.63046	0.992	P	0.48454	0.578	T	0.00126	-1.2021	10	0.87932	D	0	-5.8187	15.5156	0.75822	0.1389:0.8611:0.0:0.0	rs2229759;rs35125118	358	Q92844	TANK_HUMAN	L	358;358;358;249;113	ENSP00000259075:P358L;ENSP00000376505:P358L;ENSP00000385487:P358L;ENSP00000412556:P249L;ENSP00000387439:P113L	ENSP00000259075:P358L	P	+	2	0	TANK	161796280	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.944000	0.56629	2.784000	0.95788	0.585000	0.79938	CCG	C|0.977;T|0.023	0.023	strong		0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		T	162088034	C	T	162088034	3	4	22	1	0	0	0	0	1	0	0	0	15543	652	23	1	1128	1	TANK	2	162088034	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1119406	162088034	81111339	1638	6746										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163124051	163124051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacacttcttttgcagtgCtttgttttctcttacaatgt	7	9	2	0	rs1990760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:163124051C>T	ENST00000263642.2	-	15	3231	c.2836G>A	c.(2836-2838)Gca>Aca	p.A946T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	946			A -> T (associated with susceptibility to IDDM19; dbSNP:rs1990760). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16699517}.		cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTGCAGTGCTTTGTTTTCT	0.383													C|||	1786	0.356629	0.1256	0.3905	5008	,	,		19813	0.1865		0.6054	False		,,,				2504	0.5644				p.A946T		Atlas-SNP	.											.	IFIH1	102	.	0			c.G2836A	GRCh37	CM066881	IFIH1	M	rs1990760	PASS	.	C	THR/ALA	816,3590	325.3+/-299.0	85,646,1472	185	154	165	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2836	3.9	1	2	dbSNP_92	165	5185,3415	639.0+/-399.4	1583,2019,698	yes	missense	IFIH1	NM_022168.2	58	1668,2665,2170	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	39.7093,18.5202,46.1402	benign	946/1026	163124051	6001,7005	2203	4300	6503	SO:0001583	missense	64135	exon15			GCAGTGCTTTGTT	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2836G>A	2.37:g.163124051C>T	ENSP00000263642:p.Ala946Thr	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	801	0.36675824175824173	56	0.11382113821138211	162	0.44751381215469616	123	0.21503496503496503	460	0.6068601583113457	C	4.264	0.048000	0.08243	0.185202	0.602907	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43294	0.95	4.74	3.87	0.44632	C-terminal domain of RIG-I (1);	0.453841	0.25469	N	0.030455	T	0.00012	0.0000	L	0.40543	1.245	0.30279	P	0.791512	B	0.24533	0.105	B	0.19946	0.027	T	0.42447	-0.9451	9	0.12766	T	0.61	-12.3172	7.7307	0.28786	0.0:0.6931:0.0:0.3069	rs1990760;rs3761653;rs34707823;rs52819809;rs58100036;rs1990760	946	Q9BYX4	IFIH1_HUMAN	T	946	ENSP00000263642:A946T	ENSP00000263642:A946T	A	-	1	0	IFIH1	162832297	0.975000	0.34042	0.991000	0.47740	0.226000	0.24999	0.669000	0.25142	1.243000	0.43853	0.585000	0.79938	GCA	C|0.588;T|0.412	0.412	strong		0.383	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		T	163124051	C	T	163124051	3	4	22	1	0	0	0	0	1	0	0	0	7520	797	28	2	249	2	IFIH1	2	163124051	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1036017	163124051	80075322	1639	6747										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163128824	163128824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaatcattaactgtctcaTgttcgataactcctgaacca	6	10	2	1	rs3747517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:163128824T>C	ENST00000263642.2	-	13	2923	c.2528A>G	c.(2527-2529)cAt>cGt	p.H843R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	843	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		H -> R (in dbSNP:rs3747517). {ECO:0000269|PubMed:14645903, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AACTGTCTCATGTTCGATAAC	0.413													C|||	2954	0.589856	0.5764	0.7666	5008	,	,		19956	0.3135		0.7505	False		,,,				2504	0.6022				p.H843R		Atlas-SNP	.											IFIH1,face,carcinoma,-1,1	IFIH1	102	1	0			c.A2528G	GRCh37	CM065280	IFIH1	M	rs3747517	PASS	.	C	ARG/HIS	2751,1655	506.4+/-366.4	869,1013,321	106	92	97		2528	5.8	1	2	dbSNP_107	97	6244,2356	393.3+/-344.3	2269,1706,325	yes	missense	IFIH1	NM_022168.2	29	3138,2719,646	CC,CT,TT		27.3953,37.5624,30.8396	benign	843/1026	163128824	8995,4011	2203	4300	6503	SO:0001583	missense	64135	exon13			GTCTCATGTTCGA	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2528A>G	2.37:g.163128824T>C	ENSP00000263642:p.His843Arg	Somatic	301	1	0.00332226		WXS	Illumina HiSeq	Phase_I	212	212	1	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	1329	0.6085164835164835	295	0.5995934959349594	274	0.7569060773480663	197	0.34440559440559443	563	0.7427440633245382	C	7.862	0.726267	0.15439	0.624376	0.726047	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.03717	3.83	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.045520	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00008	-3.105	0.45718	P	0.0013760000000000439	B	0.02656	0.0	B	0.01281	0.0	T	0.38478	-0.9659	9	0.02654	T	1	-7.9174	15.0983	0.72253	0.0:0.9321:0.0:0.0679	rs3747517;rs34318023;rs56698395;rs3747517	843	Q9BYX4	IFIH1_HUMAN	R	843	ENSP00000263642:H843R	ENSP00000263642:H843R	H	-	2	0	IFIH1	162837070	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.684000	0.61686	1.449000	0.47699	-0.128000	0.14901	CAT	T|0.368;C|0.632	0.632	strong		0.413	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		C	163128824	T	C	163128824	3	2	22	1	0	0	0	0	1	0	0	0	7520	1464	51	2	565	2	IFIH1	2	163128824	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4773	163128824	80070549	1640	6748										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163128883	163128883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtgctctcatcagctctGgctcgaccacgggcctgaaa	11	13	3	1	rs13418718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:163128883G>A	ENST00000263642.2	-	13	2864	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	823	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CATCAGCTCTGGCTCGACCAC	0.428													G|||	473	0.0944489	0.3374	0.0389	5008	,	,		19695	0.0		0.0	False		,,,				2504	0.0				p.A823A		Atlas-SNP	.											.	IFIH1	102	.	0			c.C2469T						PASS	.	G		1416,2990	462.1+/-353.1	226,964,1013	80	70	74		2469	1.3	1	2	dbSNP_121	74	7,8593	3.7+/-12.6	0,7,4293	no	coding-synonymous	IFIH1	NM_022168.2		226,971,5306	AA,AG,GG		0.0814,32.138,10.9411		823/1026	163128883	1423,11583	2203	4300	6503	SO:0001819	synonymous_variant	64135	exon13			AGCTCTGGCTCGA	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2469C>T	2.37:g.163128883G>A		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	188	106	0.56383	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	CCDS2217.1																																																																																			G|0.888;A|0.112	0.112	strong		0.428	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		A	163128883	G	A	163128883	2	1	22	1	0	0	0	0	0	0	0	1	7520	1335	47	2		2	IFIH1	2	163128883	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59	163128883	80070490	1641	6749										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163137871	163137871	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcagctttggcttgcttCgtggcccctccaacaccagg	9	15	2	0	rs12479043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:163137871C>G	ENST00000263642.2	-	7	1886	c.1491G>C	c.(1489-1491)acG>acC	p.T497T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	497	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGGCTTGCTTCGTGGCCCCTC	0.393													C|||	804	0.160543	0.3245	0.3141	5008	,	,		18802	0.125		0.0109	False		,,,				2504	0.0204				p.T497T		Atlas-SNP	.											IFIH1,NS,carcinoma,0,1	IFIH1	102	1	0			c.G1491C						PASS	.	C		1383,3023	456.3+/-351.3	214,955,1034	135	128	131		1491	-4.5	0	2	dbSNP_120	131	126,8474	62.8+/-124.8	0,126,4174	no	coding-synonymous	IFIH1	NM_022168.2		214,1081,5208	GG,GC,CC		1.4651,31.389,11.6023		497/1026	163137871	1509,11497	2203	4300	6503	SO:0001819	synonymous_variant	64135	exon7			TTGCTTCGTGGCC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1491G>C	2.37:g.163137871C>G		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	175	108	0.617143	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	CCDS2217.1																																																																																			C|0.879;G|0.121	0.121	strong		0.393	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		G	163137871	C	G	163137871	2	3	22	1	0	0	0	0	0	0	0	1	7520	871	31	4		4	IFIH1	2	163137871	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8988	163137871	80061502	1642	6750										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163137983	163137983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacttctgcatcaaataaTgcctcatgatgttattatac	4	9	4	1	rs10930046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:163137983T>C	ENST00000263642.2	-	7	1774	c.1379A>G	c.(1378-1380)cAt>cGt	p.H460R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	460	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		H -> R (in dbSNP:rs10930046).		cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CATCAAATAATGCCTCATGAT	0.353													C|||	970	0.19369	0.447	0.3184	5008	,	,		18999	0.125		0.0119	False		,,,				2504	0.0204				p.H460R		Atlas-SNP	.											.	IFIH1	102	.	0			c.A1379G						PASS	.	C	ARG/HIS	1828,2578	636.9+/-396.7	381,1066,756	124	111	116		1379	5.9	1	2	dbSNP_120	116	122,8476	813.4+/-407.0	0,122,4177	yes	missense	IFIH1	NM_022168.2	29	381,1188,4933	CC,CT,TT		1.4189,41.4889,14.9954	benign	460/1026	163137983	1950,11054	2203	4299	6502	SO:0001583	missense	64135	exon7			AAATAATGCCTCA	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1379A>G	2.37:g.163137983T>C	ENSP00000263642:p.His460Arg	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	119	72	0.605042	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	406	0.1858974358974359	235	0.47764227642276424	88	0.2430939226519337	73	0.12762237762237763	10	0.013192612137203167	C	7.969	0.748690	0.15710	0.414889	0.014189	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.49432	0.78	5.91	5.91	0.95273	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00771	-1.2	0.33312	P	0.433782	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	9	0.02654	T	1	-9.0386	15.3485	0.74363	0.0:0.9333:0.0:0.0667	rs10930046;rs35105566;rs59144542;rs10930046	460	Q9BYX4	IFIH1_HUMAN	R	460	ENSP00000263642:H460R	ENSP00000263642:H460R	H	-	2	0	IFIH1	162846229	1.000000	0.71417	0.987000	0.45799	0.751000	0.42716	4.974000	0.63771	1.525000	0.49052	-0.119000	0.15052	CAT	T|0.838;C|0.162	0.162	strong		0.353	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		C	163137983	T	C	163137983	3	2	22	1	0	0	0	0	1	0	0	0	7520	1464	51	2	1738	2	IFIH1	2	163137983	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112	163137983	80061390	1643	6751										
TTC21B	79809	hgsc.bcm.edu	37	chr2	166758389	166758389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggctgttccatctgaacaCgttttagtacccgagcttgt	9	11	1	1	rs76726265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166758389C>T	ENST00000243344.7	-	20	2737	c.2600G>A	c.(2599-2601)cGt>cAt	p.R867H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	867			R -> C (in JBTS11; functionally null mutation in vitro). {ECO:0000269|PubMed:21258341}.|R -> H (found in a patient with Meckel- Gruber syndrome also carrying a homozygous variant in CC2D2A; functionally null mutation in vitro; dbSNP:rs76726265). {ECO:0000269|PubMed:21258341}.		forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CATCTGAACACGTTTTAGTAC	0.378													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		14632	0.0		0.0	False		,,,				2504	0.0				p.R867H		Atlas-SNP	.											TTC21B,NS,carcinoma,-1,1	TTC21B	130	1	0			c.G2600A						PASS	.	C	HIS/ARG	25,4381	31.7+/-61.6	0,25,2178	59	55	56		2600	5.7	1	2	dbSNP_131	56	0,8600		0,0,4300	yes	missense	TTC21B	NM_024753.3	29	0,25,6478	TT,TC,CC		0.0,0.5674,0.1922	probably-damaging	867/1317	166758389	25,12981	2203	4300	6503	SO:0001583	missense	79809	exon20			TGAACACGTTTTA	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2600G>A	2.37:g.166758389C>T	ENSP00000243344:p.Arg867His	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	181	80	0.441989	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	34	5.320668	0.95682	0.005674	0.0	ENSG00000123607	ENST00000243344	T	0.55234	0.53	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73297	-0.4027	10	0.62326	D	0.03	-13.8163	19.8381	0.96666	0.0:1.0:0.0:0.0	.	867	Q7Z4L5	TT21B_HUMAN	H	867	ENSP00000243344:R867H	ENSP00000243344:R867H	R	-	2	0	TTC21B	166466635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.061000	0.71148	2.692000	0.91855	0.650000	0.86243	CGT	C|0.998;T|0.002	0.002	strong		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166758389	C	T	166758389	3	4	22	1	0	0	0	0	1	0	0	0	16685	536	19	1	1390	1	TTC21B	2	166758389	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3620406	166758389	76440984	1644	6752										
TTC21B	79809	hgsc.bcm.edu	37	chr2	166770120	166770120	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgcatcaccaaggagaagAaaagaccgagggttagccat	11	8	1	3	rs10176588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166770120A>G	ENST00000243344.7	-	16	2312	c.2175T>C	c.(2173-2175)ttT>ttC	p.F725F		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	725					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGGAGAAGAAAAGACCGAG	0.323													A|||	1389	0.277356	0.2587	0.2262	5008	,	,		14542	0.2014		0.3648	False		,,,				2504	0.3272				p.F725F		Atlas-SNP	.											.	TTC21B	130	.	0			c.T2175C						PASS	.	A		1174,3232	408.4+/-334.6	158,858,1187	95	98	97		2175	-1.5	1	2	dbSNP_119	97	3346,5254	494.6+/-373.8	639,2068,1593	no	coding-synonymous	TTC21B	NM_024753.3		797,2926,2780	GG,GA,AA		38.907,26.6455,34.7532		725/1317	166770120	4520,8486	2203	4300	6503	SO:0001819	synonymous_variant	79809	exon16			GAGAAGAAAAGAC	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2175T>C	2.37:g.166770120A>G		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	197	97	0.492386	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	CCDS33315.1																																																																																			A|0.681;G|0.319	0.319	strong		0.323	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		G	166770120	A	G	166770120	2	3	22	1	0	0	0	0	0	0	0	1	16685	243	9	2		2	TTC21B	2	166770120	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11731	166770120	76429253	1645	6753										
TTC21B	79809	hgsc.bcm.edu	37	chr2	166773971	166773971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgagcttttatcaaatgGtataaaggatagtctctcac	8	7	3	1	rs6750044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166773971G>A	ENST00000243344.7	-	14	1832	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	565					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTATCAAATGGTATAAAGGAT	0.313													A|||	1461	0.291733	0.3094	0.2291	5008	,	,		17512	0.2014		0.3668	False		,,,				2504	0.3282				p.Y565Y		Atlas-SNP	.											.	TTC21B	130	.	0			c.C1695T						PASS	.	A		1353,3053	688.4+/-405.0	210,933,1060	125	120	121		1695	3.5	1	2	dbSNP_116	121	3345,5253	642.6+/-399.8	636,2073,1590	no	coding-synonymous	TTC21B	NM_024753.3		846,3006,2650	AA,AG,GG		38.9044,30.7081,36.1273		565/1317	166773971	4698,8306	2203	4299	6502	SO:0001819	synonymous_variant	79809	exon14			CAAATGGTATAAA	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1695C>T	2.37:g.166773971G>A		Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	149	85	0.57047	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	CCDS33315.1																																																																																			G|0.668;A|0.332	0.332	strong		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		A	166773971	G	A	166773971	2	1	22	1	0	0	0	0	0	0	0	1	16685	1256	44	2		2	TTC21B	2	166773971	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3851	166773971	76425402	1646	6754										
TTC21B	79809	hgsc.bcm.edu	37	chr2	166781188	166781188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgcccaggacttgcagGctaaacaaaacaaatcagca	9	10	1	0	rs16851307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166781188G>A	ENST00000243344.7	-	12	1524	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	463			P -> S (in dbSNP:rs16851307).		forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGACTTGCAGGCTAAACAAAA	0.353													G|||	55	0.0109824	0.0386	0.0058	5008	,	,		13522	0.0		0.0	False		,,,				2504	0.0				p.P463S		Atlas-SNP	.											.	TTC21B	130	.	0			c.C1387T						PASS	.	G	SER/PRO	192,4214	119.2+/-156.9	6,180,2017	46	46	46		1387	5.8	1	2	dbSNP_123	46	0,8600		0,0,4300	yes	missense-near-splice	TTC21B	NM_024753.3	74	6,180,6317	AA,AG,GG		0.0,4.3577,1.4762	benign	463/1317	166781188	192,12814	2203	4300	6503	SO:0001630	splice_region_variant	79809	exon12			TTGCAGGCTAAAC	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1387-1C>T	2.37:g.166781188G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	44	0.382609	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	G	19.77	3.889969	0.72524	0.043577	0.0	ENSG00000123607	ENST00000243344	T	0.63417	-0.04	5.76	5.76	0.90799	.	0.049003	0.85682	D	0.000000	T	0.26195	0.0639	M	0.74389	2.26	0.80722	D	1	P	0.39748	0.686	B	0.38156	0.266	T	0.53927	-0.8369	10	0.36615	T	0.2	-18.9007	19.9766	0.97312	0.0:0.0:1.0:0.0	rs16851307;rs52837751;rs58123452;rs16851307	463	Q7Z4L5	TT21B_HUMAN	S	463	ENSP00000243344:P463S	ENSP00000243344:P463S	P	-	1	0	TTC21B	166489434	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.194000	0.72082	2.728000	0.93425	0.561000	0.74099	CCT	G|0.983;A|0.017	0.017	strong		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Missense_Mutation	A	166781188	G	A	166781188	5	1	22	1	0	0	0	0	0	0	1	0	16685	1217	42	2	2635	2	TTC21B	2	166781188	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7217	166781188	76418185	1647	6755										
SCN1A	6323	hgsc.bcm.edu	37	chr2	166868775	166868775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtctttcgctgatcaatAtatatatcttcaaatgccta	4	9	4	1	rs36031496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166868775A>G	ENST00000303395.4	-	19	3722	c.3723T>C	c.(3721-3723)taT>taC	p.Y1241Y	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.Y1213Y|SCN1A_ENST00000423058.2_Silent_p.Y1241Y|SCN1A_ENST00000375405.3_Silent_p.Y1230Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1241					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)	GCTGATCAATATATATATCTT	0.284													A|||	179	0.0357428	0.1316	0.0072	5008	,	,		18217	0.0		0.0	False		,,,				2504	0.0				p.Y1241Y		Atlas-SNP	.											.	SCN1A	641	.	0			c.T3723C						PASS	.	A	,,,	554,3852	240.3+/-251.1	48,458,1697	51	49	50		3723,3639,3723,3690	3.2	1	2	dbSNP_126	50	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	48,458,5995	GG,GA,AA		0.0,12.5738,4.2609	,,,	1241/2010,1213/1982,1241/2010,1230/1999	166868775	554,12448	2203	4298	6501	SO:0001819	synonymous_variant	6323	exon19			ATCAATATATATA	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.3723T>C	2.37:g.166868775A>G		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	190	119	0.626316	NM_001165963	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																			.	.	none		0.284	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		G	166868775	A	G	166868775	2	3	22	1	0	0	0	0	0	0	0	1	13914	456	16	2		2	SCN1A	2	166868775	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	87587	166868775	76330598	1648	6756										
SCN1A	6323	hgsc.bcm.edu	37	chr2	166900425	166900425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctacggctctcgttatcCtcaaaggtgctgtgctcatc	8	13	4	0	rs145035963		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:166900425C>T	ENST00000303395.4	-	11	1796	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.E599E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E599E|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.E599E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	599					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)	TCTCGTTATCCTCAAAGGTGC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0				p.E599E		Atlas-SNP	.											.	SCN1A	641	.	0			c.G1797A						PASS	.	C	,,,	4,4402	8.1+/-20.4	0,4,2199	168	148	155		1797,1797,1797,1797	3.3	1	2	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,	599/2010,599/1982,599/2010,599/1999	166900425	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6323	exon11			GTTATCCTCAAAG	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.1797G>A	2.37:g.166900425C>T		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	195	111	0.569231	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																			C|1.000;T|0.000	0.000	strong		0.527	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166900425	C	T	166900425	2	4	22	1	0	0	0	0	0	0	0	1	13914	680	24	2		2	SCN1A	2	166900425	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31650	166900425	76298948	1649	6757										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167142979	167142979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctcccttttcctctccaCtggagagcttcttttgattc	5	14	3	2	rs58022607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:167142979C>T	ENST00000409435.1	-	10	1468	c.1469G>A	c.(1468-1470)aGt>aAt	p.S490N	SCN9A_ENST00000303354.6_Missense_Mutation_p.S491N|SCN9A_ENST00000409672.1_Missense_Mutation_p.S490N|SCN9A_ENST00000375387.4_Missense_Mutation_p.S491N|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	490			S -> N (in dbSNP:rs58022607). {ECO:0000269|PubMed:19763161}.		behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTCTCCACTGGAGAGCTT	0.423													C|||	230	0.0459265	0.1551	0.0187	5008	,	,		19535	0.0		0.004	False		,,,				2504	0.0082				p.S490N		Atlas-SNP	.											.	SCN9A	296	.	0			c.G1469A						PASS	.	C	ASN/SER	464,3260		28,408,1426	111	104	106		1469	4	1	2	dbSNP_129	106	44,8140		3,38,4051	yes	missense	SCN9A	NM_002977.3	46	31,446,5477	TT,TC,CC		0.5376,12.4597,4.266	benign	490/1978	167142979	508,11400	1862	4092	5954	SO:0001583	missense	6335	exon11			TCTCCACTGGAGA	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1469G>A	2.37:g.167142979C>T	ENSP00000386330:p.Ser490Asn	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	181	181	1	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	95	0.043498168498168496	85	0.17276422764227642	8	0.022099447513812154	0	0.0	2	0.002638522427440633	C	11.89	1.773085	0.31411	0.124597	0.005376	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.82	4.01	0.46588	Domain of unknown function DUF3451 (1);	0.994312	0.08172	N	0.986830	T	0.01592	0.0051	M	0.66939	2.045	0.40162	P	0.022926000000000002	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.53599	-0.8416	9	0.31617	T	0.26	.	6.4457	0.21875	0.2587:0.6092:0.0:0.1321	rs58022607	490;490;491	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	N	490;491;491;490;355;355	ENSP00000386306:S490N;ENSP00000364536:S491N;ENSP00000304748:S491N;ENSP00000386330:S490N;ENSP00000413212:S355N;ENSP00000393141:S355N	ENSP00000304748:S491N	S	-	2	0	SCN9A	166851225	0.956000	0.32656	1.000000	0.80357	0.897000	0.52465	0.338000	0.19858	1.468000	0.48064	0.484000	0.47621	AGT	C|0.964;T|0.036	0.036	strong		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167142979	C	T	167142979	3	4	22	1	0	0	0	0	1	0	0	0	13925	565	20	2	4532	2	SCN9A	2	167142979	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	242554	167142979	76056394	1650	6758										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167145106	167145106	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaaggagcccaggaaaatCactacgacaaagaagatcat	8	8	2	2	rs58465962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:167145106C>A	ENST00000409435.1	-	9	1154	c.1155G>T	c.(1153-1155)gtG>gtT	p.V385V	SCN9A_ENST00000303354.6_Silent_p.V386V|SCN9A_ENST00000409672.1_Silent_p.V385V|SCN9A_ENST00000375387.4_Silent_p.V386V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	385					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGGAAAATCACTACGACAA	0.383													C|||	229	0.0457268	0.1551	0.0187	5008	,	,		15943	0.0		0.003	False		,,,				2504	0.0082				p.V385V		Atlas-SNP	.											.	SCN9A	296	.	0			c.G1155T						PASS	.	C		457,3229		28,401,1414	79	76	77		1155	1.8	1	2	dbSNP_129	77	45,8183		3,39,4072	no	coding-synonymous	SCN9A	NM_002977.3		31,440,5486	AA,AC,CC		0.5469,12.3983,4.2135		385/1978	167145106	502,11412	1843	4114	5957	SO:0001819	synonymous_variant	6335	exon10			GAAAATCACTACG	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1155G>T	2.37:g.167145106C>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																			C|0.964;A|0.036	0.036	strong		0.383	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167145106	C	A	167145106	2	1	22	1	0	0	0	0	0	0	0	1	13925	813	29	4		4	SCN9A	2	167145106	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2127	167145106	76054267	1651	6759										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167262835	167262835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcaagcatcccatcccaaCcagcaaatattgcaacttga	4	14	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:167262835C>T	ENST00000409855.1	-	25	4430	c.4304G>A	c.(4303-4305)gGt>gAt	p.G1435D		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1435					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCCATCCCAACCAGCAAATAT	0.378																																					p.G1435D		Atlas-SNP	.											SCN7A_ENST00000409855,NS,carcinoma,-1,2	SCN7A	410	2	0			c.G4304A						scavenged	.						169	162	164					2																	167262835		1880	4139	6019	SO:0001583	missense	6332	exon25			TCCCAACCAGCAA	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4304G>A	2.37:g.167262835C>T	ENSP00000386796:p.Gly1435Asp	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	298	5	0.0167785	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101208	0.76983	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.99886	-7.52	5.14	4.26	0.50523	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.99816	0.9919	M	0.65975	2.015	0.51482	D	0.999928	D	0.89917	1.0	D	0.97110	1.0	D	0.96529	0.9391	10	0.87932	D	0	.	11.7194	0.51672	0.0:0.9142:0.0:0.0858	.	1435	Q01118	SCN7A_HUMAN	D	1435	ENSP00000386796:G1435D	ENSP00000259060:G1435D	G	-	2	0	SCN7A	166971081	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.548000	0.82154	1.540000	0.49301	0.591000	0.81541	GGT	.	.	none		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167262835	C	T	167262835	3	4	22	1	0	0	0	0	1	0	0	0	13923	507	18	2	748	2	SCN7A	2	167262835	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117729	167262835	75936538	1652	6760										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167301338	167301338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatgctccaaggtcagaaaAcatacgtttaaaattatgca	6	7	1	1	rs35213258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:167301338A>G	ENST00000409855.1	-	12	1686	c.1560T>C	c.(1558-1560)tgT>tgC	p.C520C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	520					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGGTCAGAAAACATACGTTTA	0.333													A|||	124	0.0247604	0.0272	0.0173	5008	,	,		17057	0.0		0.0577	False		,,,				2504	0.0184				p.C520C		Atlas-SNP	.											.	SCN7A	410	.	0			c.T1560C						PASS	.	A		113,3533		2,109,1712	49	48	48		1560	-2.8	0.1	2	dbSNP_126	48	285,7873		8,269,3802	no	coding-synonymous	SCN7A	NM_002976.3		10,378,5514	GG,GA,AA		3.4935,3.0993,3.3717		520/1683	167301338	398,11406	1823	4079	5902	SO:0001819	synonymous_variant	6332	exon12			CAGAAAACATACG	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1560T>C	2.37:g.167301338A>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	145	59	0.406897	NM_002976		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																			A|0.967;G|0.033	0.033	strong		0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			G	167301338	A	G	167301338	2	3	22	1	0	0	0	0	0	0	0	1	13923	41	2	2		2	SCN7A	2	167301338	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38503	167301338	75898035	1653	6761										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168100280	168100280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagaaattaaagttgtccGaggaatatccatggaagaaa	9	6	0	2	rs201184820		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:168100280G>A	ENST00000409195.1	+	9	2467	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R793Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R571Q|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGTTGTCCGAGGAATATCC	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18882	0.0		0.0	False		,,,				2504	0.0				p.R793Q		Atlas-SNP	.											XIRP2,larynx,carcinoma,+1,2	XIRP2	914	2	0			c.G2378A						PASS	.	G	GLN/ARG,GLN/ARG,,,	4,3694		0,4,1845	72	70	70		1712,2378,,,	5.9	1	2		70	0,8182		0,0,4091	yes	missense,missense,intron,intron,intron	XIRP2	NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1	43,43,,,	0,4,5936	AA,AG,GG		0.0,0.1082,0.0337	probably-damaging,probably-damaging,,,	571/3328,793/3550,,,	168100280	4,11876	1849	4091	5940	SO:0001583	missense	129446	exon9			TTGTCCGAGGAAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2378G>A	2.37:g.168100280G>A	ENSP00000386840:p.Arg793Gln	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	140	83	0.592857	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752177	0.69533	0.001082	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04234	3.68;3.68;3.67	5.92	5.92	0.95590	.	0.058183	0.64402	D	0.000001	T	0.24851	0.0603	M	0.80422	2.495	0.39027	D	0.959861	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.92;0.964;0.964	T	0.00270	-1.1860	10	0.49607	T	0.09	-12.8648	20.3213	0.98679	0.0:0.0:1.0:0.0	.	618;618;571	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	793;793;571	ENSP00000386840:R793Q;ENSP00000295237:R793Q;ENSP00000387255:R571Q	ENSP00000295237:R793Q	R	+	2	0	XIRP2	167808526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.728000	0.54991	2.810000	0.96702	0.650000	0.86243	CGA	.	.	weak		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168100280	G	A	168100280	3	1	22	1	0	0	0	0	1	0	0	0	17427	1058	37	1	2408	1	XIRP2	2	168100280	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	798942	168100280	75099093	1654	6762										
G6PC2	57818	hgsc.bcm.edu	37	chr2	169764546	169764546	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttgctttcattccctactCtgttcatatgttaatgaaac	6	9	3	1	rs2232328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169764546C>G	ENST00000375363.3	+	5	1117	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	342			S -> C (in dbSNP:rs2232328).		carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.S342C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATTCCCTACTCTGTTCATATG	0.433													G|||	1059	0.211462	0.6029	0.1888	5008	,	,		20427	0.0169		0.0875	False		,,,				2504	0.0266				p.S342C		Atlas-SNP	.											G6PC2,NS,carcinoma,0,1	G6PC2	44	1	1	Substitution - Missense(1)	stomach(1)	c.C1025G						PASS	.	G	,CYS/SER	2210,2196	587.9+/-386.8	570,1070,563	140	140	140		,1025	4.9	1	2	dbSNP_98	140	788,7812	783.6+/-407.6	38,712,3550	yes	utr-3,missense	G6PC2	NM_001081686.1,NM_021176.2	,112	608,1782,4113	GG,GC,CC		9.1628,49.8411,23.0509	,benign	,342/356	169764546	2998,10008	2203	4300	6503	SO:0001583	missense	57818	exon5			CCTACTCTGTTCA	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.1025C>G	2.37:g.169764546C>G	ENSP00000364512:p.Ser342Cys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	60	26	0.433333	NM_021176	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	451	0.2065018315018315	308	0.6260162601626016	66	0.18232044198895028	11	0.019230769230769232	66	0.0870712401055409	G	0.007	-1.986502	0.00443	0.501589	0.091628	ENSG00000152254	ENST00000375363	T	0.74209	-0.82	5.76	4.89	0.63831	.	0.061431	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00064	-2.31	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	9	0.02654	T	1	-2.6082	10.5611	0.45146	0.0696:0.132:0.7984:0.0	rs2232328;rs3770569;rs52803996;rs58257436;rs2232328	342	Q9NQR9	G6PC2_HUMAN	C	342	ENSP00000364512:S342C	ENSP00000364512:S342C	S	+	2	0	G6PC2	169472792	1.000000	0.71417	0.997000	0.53966	0.082000	0.17680	3.922000	0.56462	0.809000	0.34255	-0.701000	0.03672	TCT	C|0.776;G|0.224	0.224	strong		0.433	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		G	169764546	C	G	169764546	3	3	22	1	0	0	0	0	1	0	0	0	6144	913	32	4	1043	4	G6PC2	2	169764546	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1664266	169764546	73434827	1655	6763										
ABCB11	8647	hgsc.bcm.edu	37	chr2	169824983	169824983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaaaggtcctcgcaagcaTgtcatcttcagttgcatcta	8	11	4	0	rs11568364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169824983T>C	ENST00000263817.6	-	17	2153	c.2029A>G	c.(2029-2031)Atg>Gtg	p.M677V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	677			M -> V (does not affect transport capacity for taurocholate; dbSNP:rs11568364). {ECO:0000269|PubMed:15077010, ECO:0000269|PubMed:16763017, ECO:0000269|PubMed:16799996, ECO:0000269|PubMed:17264802}.		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTCGCAAGCATGTCATCTTCA	0.398													T|||	286	0.0571086	0.1831	0.0331	5008	,	,		17934	0.0		0.0159	False		,,,				2504	0.0051				p.M677V		Atlas-SNP	.											.	ABCB11	136	.	0			c.A2029G						PASS	.	T	VAL/MET	618,3164		47,524,1320	98	90	92		2029	-2	0	2	dbSNP_126	92	165,8103		1,163,3970	yes	missense	ABCB11	NM_003742.2	21	48,687,5290	CC,CT,TT		1.9956,16.3406,6.4979	benign	677/1322	169824983	783,11267	1891	4134	6025	SO:0001583	missense	8647	exon17			CAAGCATGTCATC	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2029A>G	2.37:g.169824983T>C	ENSP00000263817:p.Met677Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	132	58	0.439394	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	107	0.04899267399267399	84	0.17073170731707318	12	0.03314917127071823	0	0.0	11	0.014511873350923483	T	4.271	0.049489	0.08243	0.163406	0.019956	ENSG00000073734	ENST00000263817	D	0.85955	-2.05	5.46	-2.01	0.07410	.	159.533000	0.00166	N	0.000000	T	0.00468	0.0015	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13202	-1.0518	9	0.29301	T	0.29	-7.6669	2.5783	0.04812	0.4676:0.0824:0.0965:0.3535	rs11568364;rs45576536;rs52799939;rs59217356;rs11568364	119;677	B4DZQ8;O95342	.;ABCBB_HUMAN	V	677	ENSP00000263817:M677V	ENSP00000263817:M677V	M	-	1	0	ABCB11	169533229	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.041000	0.13927	-0.572000	0.06006	-1.109000	0.02080	ATG	T|0.937;C|0.063	0.063	strong		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169824983	T	C	169824983	3	2	22	1	0	0	0	0	1	0	0	0	42	1464	51	2	1984	2	ABCB11	2	169824983	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60437	169824983	73374390	1656	6764										
ABCB11	8647	hgsc.bcm.edu	37	chr2	169836388	169836388	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacataccctgtctattgtCtcaaaaatgctggtggctgc	8	10	2	0	rs57509552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169836388C>T	ENST00000263817.6	-	11	1309	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	395					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGTCTATTGTCTCAAAAATGC	0.463													C|||	104	0.0207668	0.0749	0.0072	5008	,	,		15538	0.0		0.0	False		,,,				2504	0.0				p.E395E		Atlas-SNP	.											.	ABCB11	136	.	0			c.G1185A						PASS	.	C		216,3524		4,208,1658	92	89	90		1185	-1.7	1	2	dbSNP_129	90	1,8207		0,1,4103	no	coding-synonymous	ABCB11	NM_003742.2		4,209,5761	TT,TC,CC		0.0122,5.7754,1.8162		395/1322	169836388	217,11731	1870	4104	5974	SO:0001819	synonymous_variant	8647	exon11			TATTGTCTCAAAA	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1185G>A	2.37:g.169836388C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																			C|0.980;T|0.020	0.020	strong		0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		T	169836388	C	T	169836388	2	4	22	1	0	0	0	0	0	0	0	1	42	912	32	2		2	ABCB11	2	169836388	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11405	169836388	73362985	1657	6765										
ABCB11	8647	hgsc.bcm.edu	37	chr2	169842746	169842746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaagaatcccatcactatTccttttctaattccccaacg	3	13	2	1	rs7563233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169842746T>C	ENST00000263817.6	-	10	1081	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	319	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCATCACTATTCCTTTTCTAA	0.438													C|||	610	0.121805	0.3964	0.049	5008	,	,		17824	0.001		0.0179	False		,,,				2504	0.0337				p.G319G		Atlas-SNP	.											.	ABCB11	136	.	0			c.A957G						PASS	.	C		1159,2621		179,801,910	146	138	141		957	-2.4	0.8	2	dbSNP_116	141	189,8051		3,183,3934	no	coding-synonymous	ABCB11	NM_003742.2		182,984,4844	CC,CT,TT		2.2937,30.6614,11.2146		319/1322	169842746	1348,10672	1890	4120	6010	SO:0001819	synonymous_variant	8647	exon10			CACTATTCCTTTT	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.957A>G	2.37:g.169842746T>C		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																			T|0.885;C|0.115	0.115	strong		0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169842746	T	C	169842746	2	2	22	1	0	0	0	0	0	0	0	1	42	1770	62	2		2	ABCB11	2	169842746	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6358	169842746	73356627	1658	6766										
ABCB11	8647	hgsc.bcm.edu	37	chr2	169853220	169853220	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttgatcatttcgctctcGatgttcagcaaccttcaaaa	5	10	4	1	rs11568377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169853220G>A	ENST00000263817.6	-	6	526	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	134	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTCGCTCTCGATGTTCAGCA	0.378													A|||	331	0.0660942	0.2179	0.0202	5008	,	,		13403	0.001		0.001	False		,,,				2504	0.0276				p.I134I		Atlas-SNP	.											.	ABCB11	136	.	0			c.C402T						PASS	.	A		590,3158		41,508,1325	60	57	58		402	2.8	0.9	2	dbSNP_121	58	3,8211		0,3,4104	no	coding-synonymous	ABCB11	NM_003742.2		41,511,5429	AA,AG,GG		0.0365,15.7417,4.9574		134/1322	169853220	593,11369	1874	4107	5981	SO:0001819	synonymous_variant	8647	exon6			GCTCTCGATGTTC	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.402C>T	2.37:g.169853220G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																			G|0.935;A|0.065	0.065	strong		0.378	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		A	169853220	G	A	169853220	2	1	22	1	0	0	0	0	0	0	0	1	42	1048	37	1		1	ABCB11	2	169853220	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10474	169853220	73346153	1659	6767										
LRP2	4036	hgsc.bcm.edu	37	chr2	169993977	169993977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaatattatgggctgcttCcccatttccatgacaaagtc	6	11	1	1	rs34029982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:169993977C>T	ENST00000263816.3	-	76	13830	c.13545G>A	c.(13543-13545)ggG>ggA	p.G4515G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4515					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)"	TGGGCTGCTTCCCCATTTCCA	0.438													C|||	26	0.00519169	0.0197	0.0	5008	,	,		18764	0.0		0.0	False		,,,				2504	0.0				p.G4515G		Atlas-SNP	.											.	LRP2	751	.	0			c.G13545A						PASS	.	C		95,4311	69.2+/-107.0	0,95,2108	151	144	146		13545	3.6	1	2	dbSNP_126	146	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,95,6408	TT,TC,CC		0.0,2.1562,0.7304		4515/4656	169993977	95,12911	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon76			CTGCTTCCCCATT		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.13545G>A	2.37:g.169993977C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			C|0.992;T|0.008	0.008	strong		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	169993977	C	T	169993977	2	4	22	1	0	0	0	0	0	0	0	1	8956	842	30	2		2	LRP2	2	169993977	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	140757	169993977	73205396	1660	6768										
LRP2	4036	hgsc.bcm.edu	37	chr2	170034473	170034473	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcaaaaatggtaatagcGaaagggtgaggcagtgcccc	12	8	2	1	rs139363553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170034473G>A	ENST00000263816.3	-	53	10518	c.10233C>T	c.(10231-10233)ttC>ttT	p.F3411F	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3411					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)"	TGGTAATAGCGAAAGGGTGAG	0.433													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20637	0.0		0.0	False		,,,				2504	0.0				p.F3411F		Atlas-SNP	.											.	LRP2	751	.	0			c.C10233T						PASS	.	G		25,4381	31.7+/-61.6	0,25,2178	169	146	154		10233	2	1	2	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,25,6478	AA,AG,GG		0.0,0.5674,0.1922		3411/4656	170034473	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon53			AATAGCGAAAGGG		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.10233C>T	2.37:g.170034473G>A		Somatic	346	1	0.00289017		WXS	Illumina HiSeq	Phase_I	268	116	0.432836	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			G|0.999;A|0.001	0.001	strong		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170034473	G	A	170034473	2	1	22	1	0	0	0	0	0	0	0	1	8956	1049	37	1		1	LRP2	2	170034473	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40496	170034473	73164900	1661	6769										
LRP2	4036	hgsc.bcm.edu	37	chr2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctactctcccaatgtatgCgcggtgaccccagtctgccc	9	17	2	1	rs137983840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					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)"	CCAATGTATGCGCGGTGACCC	0.483													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18886	0.0		0.0	False		,,,				2504	0.0				p.A3344T		Atlas-SNP	.											LRP2,NS,carcinoma,0,1	LRP2	751	1	0			c.G10030A						PASS	.	C	THR/ALA	23,4383	29.9+/-59.1	0,23,2180	151	123	132		10030	4.8	0.8	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	58	0,24,6479	TT,TC,CC		0.0116,0.522,0.1845	probably-damaging	3344/4656	170038097	24,12982	2203	4300	6503	SO:0001583	missense	4036	exon52			TGTATGCGCGGTG		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.10030G>A	2.37:g.170038097C>T	ENSP00000263816:p.Ala3344Thr	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	183	82	0.448087	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	LRP2	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA	C|0.999;T|0.001	0.001	strong		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170038097	C	T	170038097	3	4	22	1	0	0	0	0	1	0	0	0	8956	768	27	1	4049	1	LRP2	2	170038097	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3624	170038097	73161276	1662	6770										
LRP2	4036	hgsc.bcm.edu	37	chr2	170062078	170062078	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgttcacaatgggtacGcggaagtttcctcccaatgt	10	11	1	0	rs13397109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170062078G>C	ENST00000263816.3	-	41	7911	c.7626C>G	c.(7624-7626)cgC>cgG	p.R2542R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2542					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)"	CAATGGGTACGCGGAAGTTTC	0.488													C|||	683	0.136382	0.3563	0.0576	5008	,	,		16972	0.0		0.0547	False		,,,				2504	0.1196				p.R2542R		Atlas-SNP	.											LRP2,NS,carcinoma,-2,1	LRP2	751	1	0			c.C7626G						scavenged	.	C		1345,3061	694.4+/-405.8	196,953,1054	123	114	117		7626	3.8	0.7	2	dbSNP_121	117	446,8154	799.3+/-407.4	8,430,3862	no	coding-synonymous	LRP2	NM_004525.2		204,1383,4916	CC,CG,GG		5.186,30.5266,13.7706		2542/4656	170062078	1791,11215	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon41			GGGTACGCGGAAG		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.7626C>G	2.37:g.170062078G>C		Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	105	54	0.514286	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			G|0.878;C|0.122	0.122	strong		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170062078	G	C	170062078	2	2	22	1	0	0	0	0	0	0	0	1	8956	1074	38	4		4	LRP2	2	170062078	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23981	170062078	73137295	1663	6771										
LRP2	4036	hgsc.bcm.edu	37	chr2	170063471	170063471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcaattatatctaaagaAtcatcaacccaataaacgta	3	9	3	1	rs35114151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170063471A>G	ENST00000263816.3	-	39	7044	c.6759T>C	c.(6757-6759)gaT>gaC	p.D2253D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2253					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)"	TATCTAAAGAATCATCAACCC	0.448													A|||	303	0.0605032	0.115	0.013	5008	,	,		19993	0.0308		0.0308	False		,,,				2504	0.0818				p.D2253D		Atlas-SNP	.											.	LRP2	751	.	0			c.T6759C						PASS	.	A		474,3932	224.9+/-240.9	21,432,1750	145	144	144		6759	3.2	1	2	dbSNP_126	144	180,8420	82.0+/-144.6	3,174,4123	no	coding-synonymous	LRP2	NM_004525.2		24,606,5873	GG,GA,AA		2.093,10.7581,5.0284		2253/4656	170063471	654,12352	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon39			TAAAGAATCATCA		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.6759T>C	2.37:g.170063471A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	36	0.371134	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			A|0.954;G|0.046	0.046	strong		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170063471	A	G	170063471	2	3	22	1	0	0	0	0	0	0	0	1	8956	98	4	2		2	LRP2	2	170063471	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1393	170063471	73135902	1664	6772										
LRP2	4036	hgsc.bcm.edu	37	chr2	170070348	170070348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggtgtaccaggatcatTcgatctgttccatccacgtt	9	11	2	0	rs11886219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170070348T>C	ENST00000263816.3	-	36	6144	c.5859A>G	c.(5857-5859)cgA>cgG	p.R1953R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1953					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)"	CCAGGATCATTCGATCTGTTC	0.368													T|||	806	0.160942	0.4947	0.0965	5008	,	,		19502	0.0		0.0527	False		,,,				2504	0.0327				p.R1953R		Atlas-SNP	.											.	LRP2	751	.	0			c.A5859G						PASS	.	T		1814,2592	527.0+/-372.0	381,1052,770	76	74	75		5859	-2.4	1	2	dbSNP_120	75	485,8115	138.4+/-195.2	21,443,3836	no	coding-synonymous	LRP2	NM_004525.2		402,1495,4606	CC,CT,TT		5.6395,41.1711,17.6765		1953/4656	170070348	2299,10707	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon36			GATCATTCGATCT		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.5859A>G	2.37:g.170070348T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	139	67	0.482014	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			T|0.827;C|0.173	0.173	strong		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170070348	T	C	170070348	2	2	22	1	0	0	0	0	0	0	0	1	8956	1770	62	2		2	LRP2	2	170070348	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6877	170070348	73129025	1665	6773										
LRP2	4036	hgsc.bcm.edu	37	chr2	170088351	170088351	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaggcacatggattcacGgctgcatgagaaagagaaga	13	6	1	3	rs2302694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170088351G>A	ENST00000263816.3	-	31	5385	c.5100C>T	c.(5098-5100)tcC>tcT	p.S1700S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1700	EGF-like 7. {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)"	ATGGATTCACGGCTGCATGAG	0.488													G|||	920	0.183706	0.4228	0.1931	5008	,	,		19030	0.0526		0.1093	False		,,,				2504	0.0654				p.S1700S		Atlas-SNP	.											.	LRP2	751	.	0			c.C5100T						PASS	.	G		1684,2722	509.1+/-367.1	321,1042,840	49	54	52		5100	-1.4	0	2	dbSNP_100	52	969,7631	209.8+/-250.9	68,833,3399	yes	coding-synonymous-near-splice	LRP2	NM_004525.2		389,1875,4239	AA,AG,GG		11.2674,38.2206,20.3983		1700/4656	170088351	2653,10353	2203	4300	6503	SO:0001630	splice_region_variant	4036	exon31			ATTCACGGCTGCA		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.5099-1C>T	2.37:g.170088351G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	179	111	0.620112	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			G|0.806;A|0.194	0.194	strong		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Silent	A	170088351	G	A	170088351	5	1	22	1	0	0	0	0	0	0	1	0	8956	1130	39	1	9063	1	LRP2	2	170088351	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18003	170088351	73111022	1666	6774										
LRP2	4036	hgsc.bcm.edu	37	chr2	170092395	170092395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatggtgtccattataatcAcaaaagtccatgtaatcaag	7	8	2	0	rs2229267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170092395A>G	ENST00000263816.3	-	29	5160	c.4875T>C	c.(4873-4875)tgT>tgC	p.C1625C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1625					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)"	CATTATAATCACAAAAGTCCA	0.433													A|||	2310	0.461262	0.7088	0.4697	5008	,	,		18625	0.4058		0.2634	False		,,,				2504	0.3814				p.C1625C		Atlas-SNP	.											.	LRP2	751	.	0			c.T4875C						PASS	.	A		2843,1563	668.4+/-402.0	933,977,293	133	122	126		4875	3	1	2	dbSNP_98	126	2073,6527	359.4+/-331.5	261,1551,2488	no	coding-synonymous	LRP2	NM_004525.2		1194,2528,2781	GG,GA,AA		24.1047,35.4744,37.7979		1625/4656	170092395	4916,8090	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon29			ATAATCACAAAAG		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.4875T>C	2.37:g.170092395A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			T|0.095;G|0.314	0.314	strong		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170092395	A	G	170092395	2	3	22	1	0	0	0	0	0	0	0	1	8956	157	6	2		2	LRP2	2	170092395	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4044	170092395	73106978	1667	6775										
LRP2	4036	hgsc.bcm.edu	37	chr2	170097707	170097707	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggatgcagtttccgttgTcacagtggaaatatgatgaa	12	5	1	2	rs17848149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170097707T>G	ENST00000263816.3	-	25	4121	c.3836A>C	c.(3835-3837)gAc>gCc	p.D1279A	LRP2_ENST00000443831.1_Missense_Mutation_p.D1142A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1279	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.		D -> A (in dbSNP:rs17848149).		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)"	GTTTCCGTTGTCACAGTGGAA	0.517													T|||	212	0.0423323	0.0764	0.0086	5008	,	,		22653	0.0208		0.0288	False		,,,				2504	0.0562				p.D1279A		Atlas-SNP	.											.	LRP2	751	.	0			c.A3836C						PASS	.	T	ALA/ASP	363,4043	186.7+/-213.5	8,347,1848	167	136	147		3836	0.7	0.8	2	dbSNP_123	147	156,8444	75.1+/-137.7	2,152,4146	yes	missense	LRP2	NM_004525.2	126	10,499,5994	GG,GT,TT		1.814,8.2388,3.9905	possibly-damaging	1279/4656	170097707	519,12487	2203	4300	6503	SO:0001583	missense	4036	exon25			CCGTTGTCACAGT		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.3836A>C	2.37:g.170097707T>G	ENSP00000263816:p.Asp1279Ala	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	160	63	0.39375	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	73	0.033424908424908424	34	0.06910569105691057	4	0.011049723756906077	13	0.022727272727272728	22	0.029023746701846966	T	7.435	0.639498	0.14386	0.082388	0.01814	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95069	-3.6;-3.6	5.85	0.7	0.18099	.	0.140595	0.64402	N	0.000007	T	0.27731	0.0682	N	0.04805	-0.155	0.48341	D	0.999631	B;B	0.25105	0.039;0.118	B;B	0.33690	0.168;0.133	T	0.54050	-0.8351	10	0.09084	T	0.74	.	6.4511	0.21903	0.0:0.1926:0.1207:0.6868	rs17848149;rs17848149	1142;1279	E9PC35;P98164	.;LRP2_HUMAN	A	1279;1142	ENSP00000263816:D1279A;ENSP00000409813:D1142A	ENSP00000263816:D1279A	D	-	2	0	LRP2	169805953	1.000000	0.71417	0.768000	0.31515	0.035000	0.12851	2.866000	0.48420	-0.099000	0.12263	-0.256000	0.11100	GAC	T|0.963;G|0.037	0.037	strong		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170097707	T	G	170097707	3	3	22	1	0	0	0	0	1	0	0	0	8956	1667	58	5	10351	5	LRP2	2	170097707	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5312	170097707	73101666	1668	6776										
BBS5	129880	hgsc.bcm.edu	37	chr2	170336102	170336102	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgggaggatcgggatgtCcgtttcgacctgtccgcgca	14	11	0	0	rs10188609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170336102C>G	ENST00000295240.3	+	1	415	c.39C>G	c.(37-39)gtC>gtG	p.V13V	RP11-724O16.1_ENST00000513963.1_Silent_p.V13V|BBS5_ENST00000392663.2_Silent_p.V13V|BBS5_ENST00000554017.1_Silent_p.V13V	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	13					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCGGGATGTCCGTTTCGACC	0.637									Bardet-Biedl syndrome				C|||	233	0.0465256	0.1702	0.0115	5008	,	,		17042	0.0		0.0	False		,,,				2504	0.0				p.V13V		Atlas-SNP	.											.	BBS5	27	.	0			c.C39G						PASS	.	C		613,3793	265.3+/-266.6	56,501,1646	134	121	125		39	5.1	1	2	dbSNP_119	125	0,8600		0,0,4300	no	coding-synonymous	BBS5	NM_152384.2		56,501,5946	GG,GC,CC		0.0,13.9128,4.7132		13/342	170336102	613,12393	2203	4300	6503	SO:0001819	synonymous_variant	129880	exon1	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	GGATGTCCGTTTC	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.39C>G	2.37:g.170336102C>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	81	33	0.407407	NM_152384	D3DPC3|Q6PKN0	Silent	SNP	ENST00000295240.3	37	CCDS2233.1																																																																																			C|0.954;G|0.046	0.046	strong		0.637	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		G	170336102	C	G	170336102	2	3	22	1	0	0	0	0	0	0	0	1	1340	842	30	4		4	BBS5	2	170336102	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	238395	170336102	72863271	1669	6777										
FASTKD1	79675	hgsc.bcm.edu	37	chr2	170403106	170403106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcacactgtggtaaaacGgcttcaattcgggatatccc	10	10	2	0	rs16857030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170403106G>A	ENST00000453153.2	-	8	1669	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	FASTKD1_ENST00000453929.2_Silent_p.A441A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	441					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTGGTAAAACGGCTTCAATTC	0.428													G|||	494	0.0986422	0.2496	0.0764	5008	,	,		19180	0.003		0.0636	False		,,,				2504	0.045				p.A441A		Atlas-SNP	.											.	FASTKD1	86	.	0			c.C1323T						PASS	.	G		878,3528	338.9+/-305.5	90,698,1415	70	72	72		1323	-1.6	0.9	2	dbSNP_123	72	483,8117	139.5+/-196.2	10,463,3827	no	coding-synonymous	FASTKD1	NM_024622.3		100,1161,5242	AA,AG,GG		5.6163,19.9274,10.4644		441/848	170403106	1361,11645	2203	4300	6503	SO:0001819	synonymous_variant	79675	exon8			TAAAACGGCTTCA	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1323C>T	2.37:g.170403106G>A		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	173	70	0.404624	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																			G|0.902;A|0.098	0.098	strong		0.428	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		A	170403106	G	A	170403106	2	1	22	1	0	0	0	0	0	0	0	1	5685	1103	39	1		1	FASTKD1	2	170403106	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67004	170403106	72796267	1670	6778										
FASTKD1	79675	hgsc.bcm.edu	37	chr2	170413700	170413700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttcagaaaagataccttTtaatcagacatgagtttctg	6	6	3	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170413700T>C	ENST00000453153.2	-	6	1425	c.1079A>G	c.(1078-1080)aAa>aGa	p.K360R	FASTKD1_ENST00000453929.2_Missense_Mutation_p.K360R	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	360					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAGATACCTTTTAATCAGACA	0.378																																					p.K360R		Atlas-SNP	.											.	FASTKD1	86	.	0			c.A1079G						PASS	.						140	133	135					2																	170413700		2203	4300	6503	SO:0001583	missense	79675	exon6			TACCTTTTAATCA	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1079A>G	2.37:g.170413700T>C	ENSP00000400513:p.Lys360Arg	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	83	46	0.554217	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486556	0.44249	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.18810	2.19;2.19	5.02	5.02	0.67125	.	0.200255	0.52532	D	0.000064	T	0.25901	0.0631	M	0.74881	2.28	0.33094	D	0.538328	P;B	0.48350	0.909;0.053	B;B	0.43623	0.425;0.039	T	0.42396	-0.9454	10	0.25751	T	0.34	.	10.0946	0.42466	0.0:0.0:0.1684:0.8316	.	360;360	Q53R41-2;Q53R41	.;FAKD1_HUMAN	R	360	ENSP00000400513:K360R;ENSP00000403229:K360R	ENSP00000400513:K360R	K	-	2	0	FASTKD1	170121946	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.291000	0.51764	2.006000	0.58801	0.533000	0.62120	AAA	.	.	none		0.378	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		C	170413700	T	C	170413700	3	2	22	1	0	0	0	0	1	0	0	0	5685	1841	64	2	1504	2	FASTKD1	2	170413700	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10594	170413700	72785673	1671	6779										
FASTKD1	79675	hgsc.bcm.edu	37	chr2	170428198	170428198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacattcaccagggtatcGtcattcattaatttgaattt	5	8	3	1	rs113959605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170428198G>A	ENST00000453153.2	-	2	688	c.342C>T	c.(340-342)gaC>gaT	p.D114D	FASTKD1_ENST00000453929.2_Silent_p.D114D	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	114					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CCAGGGTATCGTCATTCATTA	0.279													G|||	37	0.00738818	0.0265	0.0014	5008	,	,		17370	0.0		0.001	False		,,,				2504	0.0				p.D114D		Atlas-SNP	.											.	FASTKD1	86	.	0			c.C342T						PASS	.	G		89,4315	68.7+/-106.4	2,85,2115	46	45	45		342	-5.3	0	2	dbSNP_132	45	1,8599		0,1,4299	no	coding-synonymous	FASTKD1	NM_024622.3		2,86,6414	AA,AG,GG		0.0116,2.0209,0.6921		114/848	170428198	90,12914	2202	4300	6502	SO:0001819	synonymous_variant	79675	exon2			GGTATCGTCATTC	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.342C>T	2.37:g.170428198G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	106	45	0.424528	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																			G|0.993;A|0.007	0.007	strong		0.279	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		A	170428198	G	A	170428198	2	1	22	1	0	0	0	0	0	0	0	1	5685	1136	40	1		1	FASTKD1	2	170428198	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14498	170428198	72771175	1672	6780										
PPIG	9360	hgsc.bcm.edu	37	chr2	170493784	170493784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaaaagtcgtgatcataaTagctcaaataacagcaggga	8	7	3	1	rs114584157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170493784T>C	ENST00000260970.3	+	14	2236	c.2016T>C	c.(2014-2016)aaT>aaC	p.N672N	PPIG_ENST00000448752.2_Silent_p.N672N|PPIG_ENST00000409714.3_Silent_p.N657N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	672					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)	GTGATCATAATAGCTCAAATA	0.353													T|||	8	0.00159744	0.0061	0.0	5008	,	,		19790	0.0		0.0	False		,,,				2504	0.0				p.N672N		Atlas-SNP	.											.	PPIG	100	.	0			c.T2016C						PASS	.	T		42,4364	43.1+/-76.7	1,40,2162	70	74	73		2016	2.2	1	2	dbSNP_132	73	0,8600		0,0,4300	no	coding-synonymous	PPIG	NM_004792.2		1,40,6462	CC,CT,TT		0.0,0.9532,0.3229		672/755	170493784	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	9360	exon14			TCATAATAGCTCA	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.2016T>C	2.37:g.170493784T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	123	44	0.357724	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	CCDS2235.1																																																																																			T|0.997;C|0.003	0.003	strong		0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			C	170493784	T	C	170493784	2	2	22	1	0	0	0	0	0	0	0	1	12324	1403	49	2		2	PPIG	2	170493784	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65586	170493784	72705589	1673	6781										
C2orf77	129881	hgsc.bcm.edu	37	chr2	170502509	170502509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtccacggccacctccagGtccttcctgtacagctttta	8	15	0	0	rs112720712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170502509G>A	ENST00000447353.1	-	9	1606	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	501																	CCACCTCCAGGTCCTTCCTGT	0.433													G|||	49	0.00978435	0.034	0.0043	5008	,	,		17210	0.0		0.001	False		,,,				2504	0.0				p.P501S		Atlas-SNP	.											.	.	.	.	0			c.C1501T						PASS	.	G	SER/PRO	119,3659		2,115,1772	169	173	171		1501	2	1	2	dbSNP_132	171	0,8212		0,0,4106	yes	missense	C2orf77	NM_001085447.1	74	2,115,5878	AA,AG,GG		0.0,3.1498,0.9925	benign	501/553	170502509	119,11871	1889	4106	5995	SO:0001583	missense	129881	exon9			CTCCAGGTCCTTC	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1501C>T	2.37:g.170502509G>A	ENSP00000391504:p.Pro501Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	109	49	0.449541	NM_001085447	Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	20	0.009157509157509158	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.71	2.319074	0.41096	0.031498	0.0	ENSG00000154479	ENST00000447353	.	.	.	5.87	2.01	0.26516	.	0.916393	0.09355	N	0.813572	T	0.06462	0.0166	L	0.40543	1.245	0.20074	N	0.999938	B	0.09022	0.002	B	0.08055	0.003	T	0.24657	-1.0154	9	0.07482	T	0.82	.	1.5507	0.02574	0.229:0.2733:0.3648:0.1329	.	501	Q0VFZ6	CB077_HUMAN	S	501	.	ENSP00000391504:P501S	P	-	1	0	C2orf77	170210755	0.219000	0.23619	0.992000	0.48379	0.992000	0.81027	0.199000	0.17237	0.467000	0.27218	0.655000	0.94253	CCT	G|0.990;A|0.010	0.010	strong		0.433	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		A	170502509	G	A	170502509	3	1	22	1	0	0	0	0	1	0	0	0	2194	1261	44	2	161	2	C2orf77	2	170502509	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8725	170502509	72696864	1674	6782										
C2orf77	129881	hgsc.bcm.edu	37	chr2	170537661	170537661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttccactcatcgtgtggAattatggtgacctgctggag	11	9	1	1	rs145389999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170537661A>G	ENST00000447353.1	-	2	255	c.150T>C	c.(148-150)atT>atC	p.I50I		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	50																	CATCGTGTGGAATTATGGTGA	0.393													A|||	52	0.0103834	0.0356	0.0072	5008	,	,		17148	0.0		0.0	False		,,,				2504	0.0				p.I50I		Atlas-SNP	.											.	.	.	.	0			c.T150C						PASS	.	A		89,3817		1,87,1865	161	153	156		150	3.2	1	2	dbSNP_134	156	0,8292		0,0,4146	no	coding-synonymous	C2orf77	NM_001085447.1		1,87,6011	GG,GA,AA		0.0,2.2785,0.7296		50/553	170537661	89,12109	1953	4146	6099	SO:0001819	synonymous_variant	129881	exon2			GTGTGGAATTATG	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.150T>C	2.37:g.170537661A>G		Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	202	108	0.534653	NM_001085447	Q6PJF6	Silent	SNP	ENST00000447353.1	37	CCDS46445.1																																																																																			A|0.993;G|0.007	0.007	strong		0.393	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		G	170537661	A	G	170537661	2	3	22	1	0	0	0	0	0	0	0	1	2194	242	9	2		2	C2orf77	2	170537661	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35152	170537661	72661712	1675	6783										
KLHL23	151230	hgsc.bcm.edu	37	chr2	170592709	170592709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgatcctttaaaagagaaAtggattcctattgcaaacat	6	6	0	2	rs2288331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170592709A>G	ENST00000392647.2	+	2	1429	c.1185A>G	c.(1183-1185)aaA>aaG	p.K395K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Silent_p.K395K	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	395										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TAAAAGAGAAATGGATTCCTA	0.413													A|||	783	0.15635	0.1831	0.1369	5008	,	,		20251	0.1766		0.1581	False		,,,				2504	0.1115				p.K395K		Atlas-SNP	.											.	KLHL23	52	.	0			c.A1185G						PASS	.	A	,	677,3729	284.3+/-277.5	58,561,1584	95	102	100		1185,1185	-2.5	1	2	dbSNP_100	100	1393,7207	267.5+/-287.3	126,1141,3033	no	coding-synonymous,coding-synonymous	KLHL23,PHOSPHO2-KLHL23	NM_001199290.1,NM_144711.5	,	184,1702,4617	GG,GA,AA		16.1977,15.3654,15.9157	,	395/559,395/559	170592709	2070,10936	2203	4300	6503	SO:0001819	synonymous_variant	151230	exon2			AGAGAAATGGATT	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1185A>G	2.37:g.170592709A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	39	20	0.512821	NM_144711	Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	CCDS2236.1																																																																																			A|0.835;G|0.165	0.165	strong		0.413	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		G	170592709	A	G	170592709	2	3	22	1	0	0	0	0	0	0	0	1	8378	98	4	2		2	KLHL23	2	170592709	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55048	170592709	72606664	1676	6784										
METTL5	29081	hgsc.bcm.edu	37	chr2	170681093	170681093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactctctagttccttaagCcttactttcttcattttgtt	4	11	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170681093C>T	ENST00000260953.5	-	1	331	c.15G>A	c.(13-15)agG>agA	p.R5R	METTL5_ENST00000410097.1_Silent_p.R5R|METTL5_ENST00000392640.2_Silent_p.R5R|UBR3_ENST00000272793.5_5'Flank|METTL5_ENST00000409340.1_Silent_p.R5R|METTL5_ENST00000409965.1_Silent_p.R5R|METTL5_ENST00000409837.1_Silent_p.R5R|UBR3_ENST00000418381.1_5'Flank|METTL5_ENST00000308099.3_Silent_p.R5R	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	5							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						GTTCCTTAAGCCTTACTTTCT	0.458											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R5R		Atlas-SNP	.											METTL5,NS,carcinoma,0,1	METTL5	24	1	0			c.G15A						scavenged	.						186	183	184					2																	170681093		2203	4300	6503	SO:0001819	synonymous_variant	29081	exon1			CTTAAGCCTTACT	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.15G>A	2.37:g.170681093C>T		Somatic	271	0	0	1887	WXS	Illumina HiSeq	Phase_I	261	3	0.0114943	NM_014168	D3DPC9|Q9NVX1	Silent	SNP	ENST00000260953.5	37	CCDS33320.1																																																																																			.	.	none		0.458	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168		T	170681093	C	T	170681093	2	4	22	1	0	0	0	0	0	0	0	1	9503	738	26	2		2	METTL5	2	170681093	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88384	170681093	72518280	1677	6785										
UBR3	130507	hgsc.bcm.edu	37	chr2	170684548	170684548	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgcggggacagcaacgtGatgcgggagagcgggtgagt	20	7	0	3	rs79036304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:170684548G>A	ENST00000272793.5	+	1	581	c.531G>A	c.(529-531)gtG>gtA	p.V177V	UBR3_ENST00000418381.1_Silent_p.V177V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	177					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACAGCAACGTGATGCGGGAGA	0.726													g|||	320	0.0638978	0.174	0.0461	5008	,	,		9387	0.0109		0.0258	False		,,,				2504	0.0215				p.V177V		Atlas-SNP	.											.	UBR3	182	.	0			c.G531A						PASS	.						6	6	6					2																	170684548		685	1551	2236	SO:0001819	synonymous_variant	130507	exon1			CAACGTGATGCGG	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.531G>A	2.37:g.170684548G>A		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	16	9	0.5625	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																				G|0.940;A|0.060	0.060	strong		0.726	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170684548	G	A	170684548	2	1	22	1	0	0	0	0	0	0	0	1	16900	1277	45	2		2	UBR3	2	170684548	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3455	170684548	72514825	1678	6786										
MYO3B	140469	hgsc.bcm.edu	37	chr2	171256771	171256771	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagttcgcagctatttcctCtcaacatcagactgataaaa	6	10	2	3	rs148136770|rs552913139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:171256771C>T	ENST00000408978.4	+	17	2008	c.1865C>T	c.(1864-1866)tCt>tTt	p.S622F	MYO3B_ENST00000409044.3_Missense_Mutation_p.S622F|MYO3B_ENST00000334231.6_Missense_Mutation_p.S631F|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	622	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTATTTCCTCTCAACATCAG	0.408																																					p.S622F		Atlas-SNP	.											.	MYO3B	320	.	0			c.C1865T						PASS	.	C	PHE/SER,PHE/SER,PHE/SER	5,3711		0,5,1853	199	181	187		1865,1865,1865	6	1	2	dbSNP_134	187	0,8214		0,0,4107	yes	missense,missense,missense	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	155,155,155	0,5,5960	TT,TC,CC		0.0,0.1346,0.0419	possibly-damaging,possibly-damaging,possibly-damaging	622/1315,622/1276,622/1342	171256771	5,11925	1858	4107	5965	SO:0001583	missense	140469	exon17			TTTCCTCTCAACA		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1865C>T	2.37:g.171256771C>T	ENSP00000386213:p.Ser622Phe	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	32	5.164240	0.94727	0.001346	0.0	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.79454	-1.27;-1.27;-1.25;-1.27	6.03	6.03	0.97812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89047	0.6604	M	0.86268	2.805	0.80722	D	1	D;P;P	0.58268	0.982;0.539;0.885	P;B;P	0.61132	0.884;0.281;0.688	D	0.89522	0.3779	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	622;622;622	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	F	622;622;621;631;631	ENSP00000386497:S622F;ENSP00000386213:S622F;ENSP00000446237:S631F;ENSP00000335100:S631F	ENSP00000314213:S621F	S	+	2	0	MYO3B	170965017	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	TCT	C|0.999;T|0.001	0.001	strong		0.408	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			T	171256771	C	T	171256771	3	4	22	1	0	0	0	0	1	0	0	0	10077	913	32	2	1931	2	MYO3B	2	171256771	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	572223	171256771	71942602	1679	6787										
GAD1	2571	hgsc.bcm.edu	37	chr2	171713564	171713564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaccagatcaacaaatgcCtggaactggctgaatacctc	7	11	1	2	rs769392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:171713564C>T	ENST00000358196.3	+	15	2000	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	484					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAACAAATGCCTGGAACTGGC	0.418													C|||	213	0.0425319	0.1505	0.0202	5008	,	,		19163	0.0		0.0	False		,,,				2504	0.0				p.L484L		Atlas-SNP	.											.	GAD1	79	.	0			c.C1450T						PASS	.	C		566,3840	254.3+/-259.9	31,504,1668	162	175	171		1450	1.6	1	2	dbSNP_98	171	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GAD1	NM_000817.2		31,507,5965	TT,TC,CC		0.0349,12.8461,4.3749		484/595	171713564	569,12437	2203	4300	6503	SO:0001819	synonymous_variant	2571	exon15			AAATGCCTGGAAC		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1450C>T	2.37:g.171713564C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	73	27	0.369863	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	CCDS2239.1																																																																																			C|0.959;T|0.041	0.041	strong		0.418	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171713564	C	T	171713564	2	4	22	1	0	0	0	0	0	0	0	1	6179	680	24	2		2	GAD1	2	171713564	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	456793	171713564	71485809	1680	6788										
GAD1	2571	hgsc.bcm.edu	37	chr2	171715387	171715387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagacagccctcaacgacGggaaaagctacacaaggtat	10	12	1	1	rs769402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:171715387G>A	ENST00000358196.3	+	16	2145	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	532			R -> Q (in dbSNP:rs769402). {ECO:0000269|Ref.9}.		gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CCTCAACGACGGGAAAAGCTA	0.453													G|||	305	0.0609026	0.2216	0.0159	5008	,	,		20178	0.0		0.001	False		,,,				2504	0.0				p.R532Q		Atlas-SNP	.											.	GAD1	79	.	0			c.G1595A						PASS	.	G	GLN/ARG	807,3599	321.3+/-297.0	68,671,1464	82	83	83		1595	3.8	1	2	dbSNP_98	83	13,8587	9.1+/-34.3	0,13,4287	yes	missense	GAD1	NM_000817.2	43	68,684,5751	AA,AG,GG		0.1512,18.3159,6.3048	benign	532/595	171715387	820,12186	2203	4300	6503	SO:0001583	missense	2571	exon16			AACGACGGGAAAA		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1595G>A	2.37:g.171715387G>A	ENSP00000350928:p.Arg532Gln	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	118	61	0.516949	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	105	0.04807692307692308	96	0.1951219512195122	9	0.024861878453038673	0	0.0	0	0.0	G	13.06	2.125053	0.37533	0.183159	0.001512	ENSG00000128683	ENST00000358196	T	0.16597	2.33	5.63	3.84	0.44239	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.174131	0.50627	N	0.000104	T	0.00012	0.0000	L	0.31526	0.94	0.09310	P	1.0	B	0.14012	0.009	B	0.04013	0.001	T	0.39440	-0.9614	9	0.12430	T	0.62	-7.3586	9.081	0.36552	0.2195:0.0:0.7805:0.0	rs769402;rs2229844;rs2266645;rs10209273;rs52821361;rs769402	532	Q99259	DCE1_HUMAN	Q	532	ENSP00000350928:R532Q	ENSP00000350928:R532Q	R	+	2	0	GAD1	171423633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.305000	0.59110	0.736000	0.32559	0.655000	0.94253	CGG	G|0.935;A|0.065	0.065	strong		0.453	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			A	171715387	G	A	171715387	3	1	22	1	0	0	0	0	1	0	0	0	6179	1116	39	1	1694	1	GAD1	2	171715387	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1823	171715387	71483986	1681	6789										
CYBRD1	79901	hgsc.bcm.edu	37	chr2	172411273	172411273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagattcagagttaaacaGtgaagtagcagcaaggaaaa	10	5	2	3	rs10455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:172411273G>A	ENST00000321348.4	+	4	995	c.797G>A	c.(796-798)aGt>aAt	p.S266N	CYBRD1_ENST00000409484.1_Missense_Mutation_p.S208N|CYBRD1_ENST00000375252.3_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	266			S -> N (in dbSNP:rs10455). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GAGTTAAACAGTGAAGTAGCA	0.443													A|||	3421	0.683107	0.9327	0.6009	5008	,	,		21456	0.3958		0.666	False		,,,				2504	0.7178				p.S266N		Atlas-SNP	.											.	CYBRD1	16	.	0			c.G797A						PASS	.	A	,ASN/SER	3875,531	239.9+/-250.9	1704,467,32	74	71	72		,797	-3.3	0.3	2	dbSNP_52	72	5670,2930	458.4+/-364.6	1889,1892,519	yes	utr-3,missense	CYBRD1	NM_001127383.1,NM_024843.3	,46	3593,2359,551	AA,AG,GG		34.0698,12.0517,26.6108	,benign	,266/287	172411273	9545,3461	2203	4300	6503	SO:0001583	missense	79901	exon4			TAAACAGTGAAGT	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.797G>A	2.37:g.172411273G>A	ENSP00000319141:p.Ser266Asn	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_024843	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	1417	0.6488095238095238	448	0.9105691056910569	233	0.643646408839779	215	0.3758741258741259	521	0.6873350923482849	A	5.162	0.215404	0.09810	0.879483	0.659302	ENSG00000071967	ENST00000409484;ENST00000321348	T;T	0.57595	0.39;0.4	5.16	-3.33	0.04958	.	0.669254	0.14511	N	0.315126	T	0.00012	0.0000	N	0.12961	0.28	0.29769	P	0.834894	B	0.02656	0.0	B	0.04013	0.001	T	0.45440	-0.9261	9	0.11794	T	0.64	0.0168	20.0263	0.97523	0.0846:0.0866:0.8288:0.0	rs10455;rs3172057;rs16859492;rs17846696;rs17859796;rs52827505;rs58982019;rs10455	266	Q53TN4	CYBR1_HUMAN	N	208;266	ENSP00000386739:S208N;ENSP00000319141:S266N	ENSP00000319141:S266N	S	+	2	0	CYBRD1	172119519	0.000000	0.05858	0.269000	0.24586	0.822000	0.46500	-1.717000	0.01876	-1.628000	0.01548	-0.972000	0.02603	AGT	A|0.688;C|0.004	0.688	strong		0.443	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		A	172411273	G	A	172411273	3	1	22	1	0	0	0	0	1	0	0	0	4134	1029	36	2	811	2	CYBRD1	2	172411273	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	695886	172411273	70788100	1682	6790										
ITGA6	3655	hgsc.bcm.edu	37	chr2	173339808	173339808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagattctatgtttggcattGcagtaaaaaatattggagat	9	3	1	2	rs11895564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:173339808G>A	ENST00000264106.6	+	8	1458	c.1255G>A	c.(1255-1257)Gca>Aca	p.A419T	ITGA6_ENST00000409080.1_Missense_Mutation_p.A380T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A375T|ITGA6_ENST00000375221.2_Missense_Mutation_p.A419T|ITGA6_ENST00000409532.1_Missense_Mutation_p.A261T|ITGA6_ENST00000264107.7_Missense_Mutation_p.A380T			P23229	ITA6_HUMAN	integrin, alpha 6	419				A -> T (in Ref. 4; BAG59130 and 7; AAI36456/AAI36457). {ECO:0000305}.	amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTTTGGCATTGCAGTAAAAAA	0.333													G|||	1260	0.251597	0.3253	0.2248	5008	,	,		18864	0.0933		0.2793	False		,,,				2504	0.3057				p.A380T		Atlas-SNP	.											ITGA6,NS,NS,-1,1	ITGA6	171	1	0			c.G1138A						PASS	.	G	THR/ALA,THR/ALA	1505,2901	477.4+/-357.9	250,1005,948	78	79	78		1138,1138	4.5	1	2	dbSNP_120	78	2560,6040	415.9+/-351.9	370,1820,2110	yes	missense,missense	ITGA6	NM_000210.2,NM_001079818.1	58,58	620,2825,3058	AA,AG,GG		29.7674,34.158,31.2548	benign,benign	380/1074,380/1092	173339808	4065,8941	2203	4300	6503	SO:0001583	missense	3655	exon7			GGCATTGCAGTAA		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1255G>A	2.37:g.173339808G>A	ENSP00000264106:p.Ala419Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_001079818	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		524	0.23992673992673993	164	0.3333333333333333	97	0.26795580110497236	53	0.09265734265734266	210	0.2770448548812665	G	20.9	4.068903	0.76301	0.34158	0.297674	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.35	4.46	0.54185	.	0.160749	0.56097	D	0.000036	T	0.00012	0.0000	L	0.56396	1.775	0.19775	P	0.9999532777	P;B;P;P	0.45428	0.571;0.042;0.858;0.858	B;B;P;P	0.58172	0.389;0.133;0.834;0.746	T	0.01413	-1.1361	8	.	.	.	.	13.3506	0.60599	0.0:0.0:0.7145:0.2855	rs11895564;rs52804239;rs61334157;rs11895564	375;419;380;380	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	261;380;419;419;375;380;419;375	ENSP00000386614:A261T;ENSP00000264107:A380T;ENSP00000264106:A419T;ENSP00000364369:A419T;ENSP00000341078:A375T;ENSP00000386896:A380T;ENSP00000406694:A419T;ENSP00000394169:A375T	.	A	+	1	0	ITGA6	173048054	1.000000	0.71417	0.967000	0.41034	0.946000	0.59487	3.120000	0.50430	1.225000	0.43566	0.650000	0.86243	GCA	G|0.714;A|0.286	0.286	strong		0.333	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173339808	G	A	173339808	3	1	22	1	0	0	0	0	1	0	0	0	7880	1319	46	2	1164	2	ITGA6	2	173339808	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	928535	173339808	69859565	1683	6791										
ZAK	51776	hgsc.bcm.edu	37	chr2	174103160	174103160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcacttcccaccactaatTaaggtaagtaaggtttttct	5	9	2	0	rs3739103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:174103160T>C	ENST00000375213.3	+	15	1341	c.1263T>C	c.(1261-1263)atT>atC	p.I421I	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.I421I|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		421					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CACCACTAATTAAGGTAAGTA	0.343													T|||	750	0.14976	0.056	0.085	5008	,	,		19343	0.5575		0.0249	False		,,,				2504	0.0307				p.I421I		Atlas-SNP	.											.	ZAK	62	.	0			c.T1263C						PASS	.	T		193,3633		4,185,1724	117	111	113		1263	1.6	1	2	dbSNP_107	113	229,8049		3,223,3913	no	coding-synonymous	ZAK	NM_016653.2		7,408,5637	CC,CT,TT		2.7664,5.0444,3.4865		421/801	174103160	422,11682	1913	4139	6052	SO:0001819	synonymous_variant	0	exon15			ACTAATTAAGGTA																												ENST00000375213.3:c.1263T>C	2.37:g.174103160T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	145	64	0.441379	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	CCDS42777.1																																																																																			T|0.850;C|0.150	0.150	strong		0.343	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			C	174103160	T	C	174103160	2	2	22	1	0	0	0	0	0	0	0	1	17509	1742	61	2		2	ZAK	2	174103160	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	763352	174103160	69096213	1684	6792										
CHRNA1	1134	hgsc.bcm.edu	37	chr2	175613477	175613477	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctgtaaaaatctttttgTcttgcttttctctggatggt	7	7	4	0	rs6739001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:175613477T>A	ENST00000261007.5	-	9	1214	c.1148A>T	c.(1147-1149)gAc>gTc	p.D383V	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.D358V|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D276V	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	383			D -> V (in dbSNP:rs6739001).		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AATCTTTTTGTCTTGCTTTTC	0.408											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	94	0.01877	0.0703	0.0014	5008	,	,		19250	0.0		0.0	False		,,,				2504	0.0				p.D383V		Atlas-SNP	.											.	CHRNA1	92	.	0			c.A1148T						PASS	.	T	VAL/ASP,VAL/ASP	251,4155	144.6+/-179.5	5,241,1957	137	130	133		1073,1148	5.5	1	2	dbSNP_116	133	1,8599		0,1,4299	yes	missense,missense	CHRNA1	NM_000079.3,NM_001039523.2	152,152	5,242,6256	AA,AT,TT		0.0116,5.6968,1.9376	benign,benign	358/458,383/483	175613477	252,12754	2203	4300	6503	SO:0001583	missense	1134	exon9			TTTTTGTCTTGCT	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1148A>T	2.37:g.175613477T>A	ENSP00000261007:p.Asp383Val	Somatic	175	0	0	1924	WXS	Illumina HiSeq	Phase_I	134	59	0.440298	NM_001039523	B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	CCDS33331.1	37	0.01694139194139194	37	0.07520325203252033	0	0.0	0	0.0	0	0.0	T	14.25	2.478393	0.44044	0.056968	1.16E-4	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.85773	-2.03;-2.03;-2.03	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.943943	0.09150	N	0.841683	T	0.19967	0.0480	L	0.27053	0.805	0.80722	D	1	B;B	0.23540	0.003;0.087	B;B	0.25759	0.007;0.063	T	0.48559	-0.9025	10	0.40728	T	0.16	.	11.8621	0.52471	0.0:0.0:0.1458:0.8542	rs6739001;rs52820919;rs6739001	358;383	Q53SH4;P02708	.;ACHA_HUMAN	V	358;383;276	ENSP00000261008:D358V;ENSP00000261007:D383V;ENSP00000387026:D276V	ENSP00000261007:D383V	D	-	2	0	CHRNA1	175321723	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	2.634000	0.46528	2.217000	0.71921	0.533000	0.62120	GAC	T|0.971;A|0.029	0.029	strong		0.408	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			A	175613477	T	A	175613477	3	1	22	1	0	0	0	0	1	0	0	0	3381	1667	58	5	308	5	CHRNA1	2	175613477	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1510317	175613477	67585896	1685	6793										
EVX2	344191	hgsc.bcm.edu	37	chr2	176948445	176948445	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggagaatctcttgcccgcCgtagggctgtgcagccctct	12	13	2	1	rs61731351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:176948445C>G	ENST00000308618.4	-	1	196	c.60G>C	c.(58-60)acG>acC	p.T20T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	20					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCCCGCCGTAGGGCTGT	0.547													C|||	188	0.0375399	0.1369	0.0086	5008	,	,		16189	0.0		0.001	False		,,,				2504	0.0				p.T20T		Atlas-SNP	.											EVX2,NS,carcinoma,0,1	EVX2	51	1	0			c.G60C						PASS	.	C		572,3834	242.8+/-252.7	42,488,1673	68	79	75		60	0	1	2	dbSNP_129	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EVX2	NM_001080458.1		42,489,5972	GG,GC,CC		0.0116,12.9823,4.4057		20/477	176948445	573,12433	2203	4300	6503	SO:0001819	synonymous_variant	344191	exon1			GCCCGCCGTAGGG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.60G>C	2.37:g.176948445C>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	104	54	0.519231	NM_001080458		Silent	SNP	ENST00000308618.4	37	CCDS33333.1																																																																																			C|0.930;G|0.070	0.070	strong		0.547	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			G	176948445	C	G	176948445	2	3	22	1	0	0	0	0	0	0	0	1	5295	639	23	4		4	EVX2	2	176948445	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1334968	176948445	66250928	1686	6794										
HOXD9	3235	hgsc.bcm.edu	37	chr2	176988765	176988765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaaagaattcctcttcaaCatgtacctcacccgggaccg	8	13	3	2	rs35649704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:176988765C>T	ENST00000249499.6	+	2	1330	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	307					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCCTCTTCAACATGTACCTCA	0.537													C|||	83	0.0165735	0.0613	0.0029	5008	,	,		17944	0.0		0.0	False		,,,				2504	0.0				p.N307N	GBM(47;924 952 7959 9248 12176)	Atlas-SNP	.											.	HOXD9	49	.	0			c.C921T						PASS	.	C		186,4220	118.8+/-156.5	4,178,2021	94	105	101		921	3.9	1	2	dbSNP_126	101	0,8600		0,0,4300	no	coding-synonymous	HOXD9	NM_014213.3		4,178,6321	TT,TC,CC		0.0,4.2215,1.4301		307/353	176988765	186,12820	2203	4300	6503	SO:0001819	synonymous_variant	3235	exon2			CTTCAACATGTAC		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.921C>T	2.37:g.176988765C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	170	86	0.505882	NM_014213	Q86ST1	Silent	SNP	ENST00000249499.6	37	CCDS2267.2																																																																																			C|0.987;T|0.013	0.013	strong		0.537	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			T	176988765	C	T	176988765	2	4	22	1	0	0	0	0	0	0	0	1	7326	477	17	2		2	HOXD9	2	176988765	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40320	176988765	66210608	1687	6795										
HOXD8	3234	hgsc.bcm.edu	37	chr2	176995146	176995146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagtacaaggcggcggctGcggcggcggcggcggcgggc	21	13	0	0	rs192755857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:176995146G>A	ENST00000313173.4	+	1	679	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.A18T|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.A18T|HOXD8_ENST00000450510.2_Missense_Mutation_p.A18T	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	18	Poly-Ala.				anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ggcggcggctgcggcggcggc	0.726													G|||	92	0.0183706	0.0681	0.0029	5008	,	,		5924	0.0		0.0	False		,,,				2504	0.0				p.A18T		Atlas-SNP	.											.	HOXD8	24	.	0			c.G52A						PASS	.						1	1	1					2																	176995146		405	891	1296	SO:0001583	missense	3234	exon1			GCGGCTGCGGCGG		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.52G>A	2.37:g.176995146G>A	ENSP00000315949:p.Ala18Thr	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	9	7	0.777778	NM_001199746	F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	CCDS2268.1	76	0.0347985347985348	32	0.06504065040650407	8	0.022099447513812154	29	0.050699300699300696	7	0.009234828496042216	G	15.69	2.907048	0.52333	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D	0.93763	-3.28;-3.25;-3.0;-3.25	2.06	1.06	0.20224	.	.	.	.	.	T	0.30230	0.0758	N	0.08118	0	0.22968	N	0.998491	B;B	0.26081	0.124;0.141	B;B	0.17722	0.014;0.019	T	0.54036	-0.8353	9	0.14656	T	0.56	.	5.7146	0.17952	0.0:0.0:0.6812:0.3188	.	18;18	Q8IXZ1;P13378	.;HXD8_HUMAN	T	18	ENSP00000315949:A18T;ENSP00000437431:A18T;ENSP00000448196:A18T;ENSP00000409026:A18T	ENSP00000315949:A18T	A	+	1	0	HOXD8	176703392	0.986000	0.35501	0.504000	0.27639	0.610000	0.37248	0.000000	0.12993	-0.051000	0.13334	0.186000	0.17326	GCG	G|0.966;A|0.034	0.034	strong		0.726	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			A	176995146	G	A	176995146	3	1	22	1	0	0	0	0	1	0	0	0	7325	1319	46	2	54	2	HOXD8	2	176995146	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6381	176995146	66204227	1688	6796										
HOXD3	3232	hgsc.bcm.edu	37	chr2	177034130	177034130	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatgcggccgggcactggGaacagccagggtgggggtgg	21	9	0	0	rs77818566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:177034130G>A	ENST00000468418.3	+	3	2378	c.288G>A	c.(286-288)ggG>ggA	p.G96G	HOXD3_ENST00000249440.3_Silent_p.G96G|HOXD3_ENST00000410016.1_Silent_p.G96G			P31249	HXD3_HUMAN	homeobox D3	96					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGGCACTGGGAACAGCCAGG	0.647													G|||	289	0.0577077	0.2133	0.0101	5008	,	,		14552	0.0		0.0	False		,,,				2504	0.0				p.G96G		Atlas-SNP	.											.	HOXD3	65	.	0			c.G288A						PASS	.	G		749,3657	262.5+/-264.9	73,603,1527	24	26	25		288	3.6	1	2	dbSNP_131	25	18,8582	9.8+/-36.6	0,18,4282	no	coding-synonymous	HOXD3	NM_006898.4		73,621,5809	AA,AG,GG		0.2093,16.9995,5.8973		96/433	177034130	767,12239	2203	4300	6503	SO:0001819	synonymous_variant	3232	exon2			CACTGGGAACAGC		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.288G>A	2.37:g.177034130G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	116	56	0.482759	NM_006898	Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	CCDS2270.1																																																																																			G|0.949;A|0.051	0.051	strong		0.647	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			A	177034130	G	A	177034130	2	1	22	1	0	0	0	0	0	0	0	1	7323	1161	41	2		2	HOXD3	2	177034130	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38984	177034130	66165243	1689	6797										
PDE11A	50940	hgsc.bcm.edu	37	chr2	178592452	178592452	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttgtggtatagaaccatCcgatagtttttcctcactgt	8	9	1	1	rs77341035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:178592452C>A	ENST00000286063.6	-	12	2294	c.1977G>T	c.(1975-1977)cgG>cgT	p.R659R	PDE11A_ENST00000449286.2_Silent_p.R301R|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Silent_p.R215R|PDE11A_ENST00000409504.1_Silent_p.R301R|PDE11A_ENST00000358450.4_Silent_p.R409R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	659	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATAGAACCATCCGATAGTTTT	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial				C|||	54	0.0107827	0.0393	0.0029	5008	,	,		22848	0.0		0.0	False		,,,				2504	0.0				p.R659R		Atlas-SNP	.											.	PDE11A	283	.	0			c.G1977T						PASS	.	C	,,,	96,4310	77.8+/-116.1	0,96,2107	185	153	164		645,1227,903,1977	-7.6	0.9	2	dbSNP_131	164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	,,,	0,97,6406	AA,AC,CC		0.0116,2.1788,0.7458	,,,	215/490,409/684,301/576,659/934	178592452	97,12909	2203	4300	6503	SO:0001819	synonymous_variant	50940	exon12	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AACCATCCGATAG	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1977G>T	2.37:g.178592452C>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	C	11.02	1.515710	0.27123	0.021788	1.16E-4	ENSG00000128655	ENST00000433879	.	.	.	5.67	-7.56	0.01322	.	.	.	.	.	T	0.10252	0.0251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39014	-0.9634	4	.	.	.	.	2.2102	0.03945	0.1021:0.2177:0.3161:0.3641	.	.	.	.	V	267	.	.	G	-	2	0	PDE11A	178300698	0.947000	0.32204	0.922000	0.36590	0.991000	0.79684	-0.087000	0.11215	-0.991000	0.03476	-0.290000	0.09829	GGA	C|0.989;A|0.011	0.011	strong		0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			A	178592452	C	A	178592452	2	1	22	1	0	0	0	0	0	0	0	1	11631	842	30	4		4	PDE11A	2	178592452	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1558322	178592452	64606921	1690	6798										
PDE11A	50940	hgsc.bcm.edu	37	chr2	178682603	178682603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcaaaaagtcgttgatcTgcatcatcaaaaggtttccc	6	11	4	1	rs6720891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:178682603T>C	ENST00000286063.6	-	8	1943	c.1626A>G	c.(1624-1626)gcA>gcG	p.A542A	PDE11A_ENST00000449286.2_Silent_p.A184A|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Silent_p.A98A|PDE11A_ENST00000409504.1_Silent_p.A184A|PDE11A_ENST00000358450.4_Silent_p.A292A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	542	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GTCGTTGATCTGCATCATCAA	0.383									Primary Pigmented Nodular Adrenocortical Disease, Familial				t|||	2094	0.418131	0.7315	0.2622	5008	,	,		16517	0.3056		0.3241	False		,,,				2504	0.318				p.A542A		Atlas-SNP	.											.	PDE11A	283	.	0			c.A1626G						PASS	.	C	,,,	2726,1680	648.8+/-398.8	856,1014,333	84	89	87		294,876,552,1626	-11.6	0.7	2	dbSNP_116	87	2778,5822	436.2+/-358.2	450,1878,1972	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	,,,	1306,2892,2305	CC,CT,TT		32.3023,38.1298,42.3189	,,,	98/490,292/684,184/576,542/934	178682603	5504,7502	2203	4300	6503	SO:0001819	synonymous_variant	50940	exon8	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	TTGATCTGCATCA	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1626A>G	2.37:g.178682603T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	900	0.41208791208791207	350	0.7113821138211383	110	0.30386740331491713	206	0.36013986013986016	234	0.3087071240105541	t	5.380	0.255377	0.10185	0.618702	0.323023	ENSG00000128655	ENST00000433879	.	.	.	5.82	-11.6	0.00059	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999996	.	.	.	.	.	.	T	0.41645	-0.9497	3	.	.	.	.	0.7539	0.00995	0.1939:0.1937:0.2082:0.4043	rs6720891;rs58395732;rs6720891	.	.	.	R	181	.	.	Q	-	2	0	PDE11A	178390849	0.521000	0.26258	0.742000	0.31022	0.633000	0.38033	-0.365000	0.07573	-1.740000	0.01345	-4.221000	0.00009	CAG	T|0.578;C|0.422	0.422	strong		0.383	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			C	178682603	T	C	178682603	2	2	22	1	0	0	0	0	0	0	0	1	11631	1567	55	3		3	PDE11A	2	178682603	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	90151	178682603	64516770	1691	6799										
OSBPL6	114880	hgsc.bcm.edu	37	chr2	179226431	179226431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattctcttttgaagtctgcAtttaatagcatagctataga	6	7	2	2	rs145291582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179226431A>G	ENST00000190611.4	+	13	1552	c.1176A>G	c.(1174-1176)gcA>gcG	p.A392A	OSBPL6_ENST00000409631.1_Silent_p.A392A|OSBPL6_ENST00000392505.2_Silent_p.A417A|OSBPL6_ENST00000359685.3_Silent_p.A392A|OSBPL6_ENST00000357080.4_Silent_p.A361A|OSBPL6_ENST00000409045.3_Silent_p.A361A|OSBPL6_ENST00000315022.2_Silent_p.A396A	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	392					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGAAGTCTGCATTTAATAGCA	0.438													a|||	19	0.00379393	0.0136	0.0014	5008	,	,		20040	0.0		0.0	False		,,,				2504	0.0				p.A417A		Atlas-SNP	.											OSBPL6,NS,carcinoma,+1,1	OSBPL6	178	1	0			c.A1251G						PASS	.	A	,,,,	58,4348	55.5+/-91.7	0,58,2145	104	98	100		1251,1083,1176,1176,1188	-11.1	0.2	2	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	,,,,	0,58,6445	GG,GA,AA		0.0,1.3164,0.4459	,,,,	417/960,361/904,392/899,392/935,396/939	179226431	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	114880	exon14			GTCTGCATTTAAT	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1176A>G	2.37:g.179226431A>G		Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	289	144	0.49827	NM_001201480	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																			A|0.995;G|0.005	0.005	strong		0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		G	179226431	A	G	179226431	2	3	22	1	0	0	0	0	0	0	0	1	11281	204	8	2		2	OSBPL6	2	179226431	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	543828	179226431	63972942	1692	6800										
TTN	7273	hgsc.bcm.edu	37	chr2	179393111	179393111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcggatttcaagggagtatAcatttctggagcggcttatg	12	6	2	0	rs16866378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179393111A>G	ENST00000591111.1	-	311	102568	c.102344T>C	c.(102343-102345)gTa>gCa	p.V34115A	TTN_ENST00000342175.6_Missense_Mutation_p.V26883A|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26816A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V26691A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V35756A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V33188A|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34115	Ig-like 151.|Ser-rich.		V -> A. {ECO:0000269|PubMed:17344846}.		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)			AAGGGAGTATACATTTCTGGA	0.398													A|||	461	0.0920527	0.1354	0.0403	5008	,	,		19459	0.1736		0.0318	False		,,,				2504	0.0481				p.V35756A		Atlas-SNP	.											.	TTN	18412	.	0			c.T107267C						PASS	.	A	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	443,3287		29,385,1451	113	102	105		80648,80447,99563,80072	1.2	0	2	dbSNP_123	105	170,8040		4,162,3939	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	64,64,64,64	33,547,5390	GG,GA,AA		2.0706,11.8767,5.134	benign,benign,benign,benign	26883/27119,26816/27052,33188/33424,26691/26927	179393111	613,11327	1865	4105	5970	SO:0001583	missense	7273	exon361			GAGTATACATTTC	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.102344T>C	2.37:g.179393111A>G	ENSP00000465570:p.Val34115Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	112	57	0.508929	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	37		205	0.09386446886446886	68	0.13821138211382114	15	0.04143646408839779	100	0.17482517482517482	22	0.029023746701846966	A	7.782	0.709636	0.15239	0.118767	0.020706	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.25	1.24	0.21308	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00210	0.0006	L	0.45744	1.44	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.001;0.003;0.004;0.002	T	0.12941	-1.0528	8	0.87932	D	0	.	9.8416	0.41002	0.6746:0.0:0.3254:0.0	rs16866378;rs52835227;rs16866378	26691;26816;26883;34115;33188	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	A	33188;26691;26883;26816;26688	ENSP00000343764:V33188A;ENSP00000434586:V26691A;ENSP00000340554:V26883A;ENSP00000352154:V26816A	ENSP00000340554:V26883A	V	-	2	0	TTN	179101357	0.258000	0.24033	0.021000	0.16686	0.083000	0.17756	4.288000	0.59007	0.410000	0.25675	0.454000	0.30748	GTA	A|0.906;G|0.094	0.094	strong		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179393111	A	G	179393111	3	3	22	1	0	0	0	0	1	0	0	0	16732	391	14	2	720	2	TTN	2	179393111	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	166680	179393111	63806262	1693	6801										
TTN	7273	hgsc.bcm.edu	37	chr2	179395560	179395560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgggtgatacggctttcGggtgagaaggttctggagat	17	5	1	3	rs16866380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179395560G>A	ENST00000591111.1	-	308	101083	c.100859C>T	c.(100858-100860)cCg>cTg	p.P33620L	TTN_ENST00000342175.6_Missense_Mutation_p.P26388L|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26321L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26196L|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35261L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32693L|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33620			P -> L. {ECO:0000269|PubMed:17344846}.		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)			TACGGCTTTCGGGTGAGAAGG	0.498													G|||	397	0.0792732	0.0885	0.0403	5008	,	,		17438	0.1716		0.0318	False		,,,				2504	0.0481				p.P35261L		Atlas-SNP	.											.	TTN	18412	.	0			c.C105782T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	260,3546		9,242,1652	126	126	126		79163,78962,98078,78587	5	0.9	2	dbSNP_123	126	171,8049		4,163,3943	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	98,98,98,98	13,405,5595	AA,AG,GG		2.0803,6.8313,3.5839	benign,benign,benign,benign	26388/27119,26321/27052,32693/33424,26196/26927	179395560	431,11595	1903	4110	6013	SO:0001583	missense	7273	exon358			GCTTTCGGGTGAG	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.100859C>T	2.37:g.179395560G>A	ENSP00000465570:p.Pro33620Leu	Somatic	351	1	0.002849		WXS	Illumina HiSeq	Phase_I	349	171	0.489971	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	37		178	0.0815018315018315	41	0.08333333333333333	15	0.04143646408839779	100	0.17482517482517482	22	0.029023746701846966	G	14.57	2.573687	0.45902	0.068313	0.020803	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69175	-0.38;-0.12;-0.14;-0.13	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.00241	0.0007	L	0.32530	0.975	0.20764	P	0.999855559	B;B;B;B	0.32731	0.382;0.382;0.382;0.382	B;B;B;B	0.17098	0.017;0.017;0.017;0.017	T	0.17776	-1.0358	8	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	rs16866380;rs52806480;rs16866380	26196;26321;26388;33620	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	32693;26196;26388;26321;26193	ENSP00000343764:P32693L;ENSP00000434586:P26196L;ENSP00000340554:P26388L;ENSP00000352154:P26321L	ENSP00000340554:P26388L	P	-	2	0	TTN	179103806	0.891000	0.30450	0.934000	0.37439	0.694000	0.40290	5.487000	0.66863	2.321000	0.78463	0.455000	0.32223	CCG	G|0.921;A|0.079	0.079	strong		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395560	G	A	179395560	3	1	22	1	0	0	0	0	1	0	0	0	16732	1116	39	1	2217	1	TTN	2	179395560	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2449	179395560	63803813	1694	6802										
TTN	7273	hgsc.bcm.edu	37	chr2	179396159	179396159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaatgatgaaacagcataCgcctctgttcttgtcagctc	7	10	3	2	rs371075036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179396159C>T	ENST00000591111.1	-	308	100484	c.100260G>A	c.(100258-100260)gcG>gcA	p.A33420A	TTN_ENST00000589042.1_Silent_p.A35061A|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Silent_p.A25996A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.A32493A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.A26121A|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.A26188A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33420					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)			AAACAGCATACGCCTCTGTTC	0.478													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22850	0.0		0.0	False		,,,				2504	0.0				p.A35061A		Atlas-SNP	.											TTN_ENST00000359218,caecum,carcinoma,-1,5	TTN	18412	5	0			c.G105183A						scavenged	.	C	,,,	12,3814		0,12,1901	118	117	117		77988,97479,78363,78564	-8.1	1	2		117	1,8257		0,1,4128	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,13,6029	TT,TC,CC		0.0121,0.3136,0.1076	,,,	25996/26927,32493/33424,26121/27052,26188/27119	179396159	13,12071	1913	4129	6042	SO:0001819	synonymous_variant	7273	exon358			AGCATACGCCTCT	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.100260G>A	2.37:g.179396159C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	96	3	0.03125	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.	.	weak		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179396159	C	T	179396159	2	4	22	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179396159	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	599	179396159	63803214	1695	6803										
TTN	7273	hgsc.bcm.edu	37	chr2	179398509	179398509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggacagttatagttactCcaaaccggacattttcacct	8	10	1	0	rs3731752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179398509C>A	ENST00000591111.1	-	308	98134	c.97910G>T	c.(97909-97911)gGa>gTa	p.G32637V	TTN_ENST00000589042.1_Missense_Mutation_p.G34278V|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25213V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31710V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G25338V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G25405V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32637	Ig-like 144.		G -> V. {ECO:0000269|PubMed:17344846}.		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)			TATAGTTACTCCAAACCGGAC	0.423													C|||	391	0.0780751	0.0847	0.0403	5008	,	,		21817	0.1716		0.0318	False		,,,				2504	0.047				p.G34278V		Atlas-SNP	.											.	TTN	18412	.	0			c.G102833T						PASS	.	C	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	245,3561		8,229,1666	97	89	92		75638,95129,76013,76214	5.6	1	2	dbSNP_107	92	163,8059		4,155,3952	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	109,109,109,109	12,384,5618	AA,AC,CC		1.9825,6.4372,3.3921	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25213/26927,31710/33424,25338/27052,25405/27119	179398509	408,11620	1903	4111	6014	SO:0001583	missense	7273	exon358			GTTACTCCAAACC	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.97910G>T	2.37:g.179398509C>A	ENSP00000465570:p.Gly32637Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	134	67	0.5	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	37		175	0.08012820512820513	38	0.07723577235772358	15	0.04143646408839779	100	0.17482517482517482	22	0.029023746701846966	C	15.09	2.730452	0.48939	0.064372	0.019825	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.00300	0.0009	N	0.01874	-0.695	0.09310	P	0.9999999839552	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.51647	-0.8679	8	0.87932	D	0	.	13.8517	0.63501	0.0:0.9246:0.0:0.0754	rs3731752;rs52831571;rs57847880;rs3731752	25213;25338;25405;32637	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31710;25213;25405;25338;25210	ENSP00000343764:G31710V;ENSP00000434586:G25213V;ENSP00000340554:G25405V;ENSP00000352154:G25338V	ENSP00000340554:G25405V	G	-	2	0	TTN	179106755	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.794000	0.85869	2.641000	0.89580	0.491000	0.48974	GGA	C|0.922;A|0.078	0.078	strong		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179398509	C	A	179398509	3	1	22	1	0	0	0	0	1	0	0	0	16732	855	30	4	5166	4	TTN	2	179398509	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2350	179398509	63800864	1696	6804										
TTN	7273	hgsc.bcm.edu	37	chr2	179400895	179400895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttgtctgtaccatttgaCgataggttttggatgaccag	11	8	1	2	rs2278196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179400895C>T	ENST00000591111.1	-	307	95880	c.95656G>A	c.(95656-95658)Gtc>Atc	p.V31886I	TTN_ENST00000589042.1_Missense_Mutation_p.V33527I|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24462I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30959I|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24587I|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24654I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31886	Ig-like 141.		V -> I. {ECO:0000269|PubMed:17344846}.		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)			TACCATTTGACGATAGGTTTT	0.403													C|||	328	0.0654952	0.0847	0.036	5008	,	,		21422	0.1488		0.0298	False		,,,				2504	0.0112				p.V33527I		Atlas-SNP	.											.	TTN	18412	.	0			c.G100579A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	247,3549		8,231,1659	122	107	112		73384,92875,73759,73960	5.8	1	2	dbSNP_100	112	143,8087		3,137,3975	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	11,368,5634	TT,TC,CC		1.7375,6.5068,3.243	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	24462/26927,30959/33424,24587/27052,24654/27119	179400895	390,11636	1898	4115	6013	SO:0001583	missense	7273	exon357			ATTTGACGATAGG	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.95656G>A	2.37:g.179400895C>T	ENSP00000465570:p.Val31886Ile	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	207	107	0.516908	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	37		155	0.07097069597069597	37	0.07520325203252033	13	0.03591160220994475	84	0.14685314685314685	21	0.027704485488126648	C	14.71	2.617959	0.46736	0.065068	0.017375	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00384	0.0012	N	0.11789	0.175	0.22771	P	0.99875326	P;P;P;P	0.42248	0.774;0.774;0.774;0.774	B;B;B;B	0.27380	0.079;0.079;0.079;0.079	T	0.34700	-0.9818	8	0.87932	D	0	.	19.9595	0.97236	0.0:1.0:0.0:0.0	rs2278196;rs52810709;rs2278196	24462;24587;24654;31886	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	30959;24462;24654;24587;24459	ENSP00000343764:V30959I;ENSP00000434586:V24462I;ENSP00000340554:V24654I;ENSP00000352154:V24587I	ENSP00000340554:V24654I	V	-	1	0	TTN	179109141	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	4.881000	0.63114	2.706000	0.92434	0.563000	0.77884	GTC	C|0.930;T|0.070	0.070	strong		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179400895	C	T	179400895	3	4	22	1	0	0	0	0	1	0	0	0	16732	536	19	1	7424	1	TTN	2	179400895	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2386	179400895	63798478	1697	6805										
TTN	7273	hgsc.bcm.edu	37	chr2	179401015	179401015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgggacatcagatttggGagtgatgggttctgatattt	13	3	2	3	rs72629779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179401015G>A	ENST00000591111.1	-	307	95760	c.95536C>T	c.(95536-95538)Ccc>Tcc	p.P31846S	TTN_ENST00000589042.1_Missense_Mutation_p.P33487S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24422S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30919S|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24547S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24614S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31846	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGATTTGGGAGTGATGGGT	0.403													G|||	69	0.013778	0.0499	0.0043	5008	,	,		21952	0.0		0.0	False		,,,				2504	0.0				p.P33487S		Atlas-SNP	.											.	TTN	18412	.	0			c.C100459T						PASS	.	G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	127,3629		1,125,1752	87	80	83		73264,92755,73639,73840	5.8	1	2	dbSNP_130	83	2,8222		0,2,4110	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	74,74,74,74	1,127,5862	AA,AG,GG		0.0243,3.3813,1.0768	probably-damaging,probably-damaging,probably-damaging,probably-damaging	24422/26927,30919/33424,24547/27052,24614/27119	179401015	129,11851	1878	4112	5990	SO:0001583	missense	7273	exon357			ATTTGGGAGTGAT	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.95536C>T	2.37:g.179401015G>A	ENSP00000465570:p.Pro31846Ser	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	179	85	0.47486	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	37		22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	G	20.0	3.930466	0.73327	0.033813	2.43E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46927	0.1418	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.69327	-0.5174	9	0.87932	D	0	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	24422;24547;24614;31846	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	30919;24422;24614;24547;24419	ENSP00000343764:P30919S;ENSP00000434586:P24422S;ENSP00000340554:P24614S;ENSP00000352154:P24547S	ENSP00000340554:P24614S	P	-	1	0	TTN	179109261	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.997000	0.88414	2.706000	0.92434	0.563000	0.77884	CCC	G|0.990;A|0.010	0.010	strong		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179401015	G	A	179401015	3	1	22	1	0	0	0	0	1	0	0	0	16732	1174	41	2	7544	2	TTN	2	179401015	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120	179401015	63798358	1698	6806										
TTN	7273	hgsc.bcm.edu	37	chr2	179412452	179412452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaatgaccacaactgtgaCgctaaatgttttaacaccag	6	11	0	2	rs67665715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179412452C>T	ENST00000591111.1	-	289	89202	c.88978G>A	c.(88978-88980)Gtc>Atc	p.V29660I	TTN_ENST00000589042.1_Missense_Mutation_p.V31301I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22236I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28733I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22361I|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22428I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29660	Ig-like 135.				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)			ACAACTGTGACGCTAAATGTT	0.478													C|||	180	0.0359425	0.1271	0.0159	5008	,	,		20351	0.0		0.001	False		,,,				2504	0.0				p.V31301I		Atlas-SNP	.											.	TTN	18412	.	0			c.G93901A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	395,3517		24,347,1585	139	130	133		67282,67081,86197,66706	-2.3	0.9	2	dbSNP_130	133	8,8316		0,8,4154	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	24,355,5739	TT,TC,CC		0.0961,10.0971,3.2936	benign,benign,benign,benign	22428/27119,22361/27052,28733/33424,22236/26927	179412452	403,11833	1956	4162	6118	SO:0001583	missense	7273	exon339			CTGTGACGCTAAA	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.88978G>A	2.37:g.179412452C>T	ENSP00000465570:p.Val29660Ile	Somatic	387	0	0		WXS	Illumina HiSeq	Phase_I	438	243	0.554795	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	37		86	0.039377289377289376	78	0.15853658536585366	8	0.022099447513812154	0	0.0	0	0.0	C	6.281	0.420045	0.11928	0.100971	9.61E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.92	-2.32	0.06745	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00271	0.0008	N	0.17631	0.505	0.30962	P	0.723517	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.09618	-1.0666	8	0.87932	D	0	.	13.3122	0.60386	0.0:0.727:0.0:0.273	.	22236;22361;22428;29660	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28733;22236;22428;22361;22233	ENSP00000343764:V28733I;ENSP00000434586:V22236I;ENSP00000340554:V22428I;ENSP00000352154:V22361I	ENSP00000340554:V22428I	V	-	1	0	TTN	179120698	0.965000	0.33210	0.865000	0.33974	0.314000	0.28054	0.991000	0.29654	-0.306000	0.08818	-1.934000	0.00508	GTC	C|0.967;T|0.033	0.033	strong		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179412452	C	T	179412452	3	4	22	1	0	0	0	0	1	0	0	0	16732	536	19	1	14174	1	TTN	2	179412452	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11437	179412452	63786921	1699	6807										
TTN	7273	hgsc.bcm.edu	37	chr2	179414318	179414318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atattgtatttgagcaaccaCtggatcagaatcaagtggcc	9	8	2	2	rs747122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179414318C>T	ENST00000591111.1	-	288	87432	c.87208G>A	c.(87208-87210)Gtg>Atg	p.V29070M	TTN_ENST00000589042.1_Missense_Mutation_p.V30711M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21646M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28143M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V21771M|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V21838M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29070	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> M. {ECO:0000269|PubMed:17344846}.		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)			TGAGCAACCACTGGATCAGAA	0.373													C|||	752	0.15016	0.2731	0.1787	5008	,	,		21696	0.0248		0.0487	False		,,,				2504	0.1973				p.V30711M		Atlas-SNP	.											.	TTN	18412	.	0			c.G92131A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	971,2753		131,709,1022	112	111	111		64936,84427,65311,65512	5.7	1	2	dbSNP_86	111	252,7938		8,236,3851	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	139,945,4873	TT,TC,CC		3.0769,26.0741,10.2652	probably-damaging,probably-damaging,probably-damaging,probably-damaging	21646/26927,28143/33424,21771/27052,21838/27119	179414318	1223,10691	1862	4095	5957	SO:0001583	missense	7273	exon338			CAACCACTGGATC	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.87208G>A	2.37:g.179414318C>T	ENSP00000465570:p.Val29070Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	102	58	0.568627	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	37		246	0.11263736263736264	150	0.3048780487804878	58	0.16022099447513813	5	0.008741258741258742	33	0.04353562005277045	C	15.04	2.715720	0.48622	0.260741	0.030769	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.74	5.74	0.90152	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	M	0.66378	2.025	0.23773	P	0.99688228	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.52159	0.618;0.618;0.618;0.691	T	0.01848	-1.1261	8	0.87932	D	0	.	15.8576	0.78994	0.1362:0.8638:0.0:0.0	rs747122;rs61267780;rs747122	21646;21771;21838;29070	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	28143;21646;21838;21771;21643	ENSP00000343764:V28143M;ENSP00000434586:V21646M;ENSP00000340554:V21838M;ENSP00000352154:V21771M	ENSP00000340554:V21838M	V	-	1	0	TTN	179122564	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	1.240000	0.32731	2.873000	0.98535	0.563000	0.77884	GTG	C|0.882;T|0.118	0.118	strong		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179414318	C	T	179414318	3	4	22	1	0	0	0	0	1	0	0	0	16732	565	20	2	15948	2	TTN	2	179414318	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1866	179414318	63785055	1700	6808										
TTN	7273	hgsc.bcm.edu	37	chr2	179416556	179416556	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttttcaacatggaatccAgtaacttctgaaccaccatc	4	12	3	1	rs11897366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179416556A>C	ENST00000591111.1	-	285	86372	c.86148T>G	c.(86146-86148)acT>acG	p.T28716T	TTN_ENST00000342175.6_Silent_p.T21484T|TTN_ENST00000359218.5_Silent_p.T21417T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.T21292T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.T30357T|TTN_ENST00000342992.6_Silent_p.T27789T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28716	Fibronectin type-III 109. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAATCCAGTAACTTCTG	0.418													A|||	763	0.152356	0.2738	0.183	5008	,	,		22144	0.0258		0.0527	False		,,,				2504	0.1994				p.T30357T		Atlas-SNP	.											.	TTN	18412	.	0			c.T91071G						PASS	.	A	,,,	980,2812		132,716,1048	162	165	164		63876,83367,64251,64452	-0.1	1	2	dbSNP_120	164	270,7962		9,252,3855	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	141,968,4903	CC,CA,AA		3.2799,25.8439,10.3959	,,,	21292/26927,27789/33424,21417/27052,21484/27119	179416556	1250,10774	1896	4116	6012	SO:0001819	synonymous_variant	7273	exon335			GAATCCAGTAACT	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.86148T>G	2.37:g.179416556A>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	131	61	0.465649	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.880;C|0.120	0.120	strong		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179416556	A	C	179416556	2	2	22	1	0	0	0	0	0	0	0	1	16732	175	7	5		5	TTN	2	179416556	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2238	179416556	63782817	1701	6809										
TTN	7273	hgsc.bcm.edu	37	chr2	179416659	179416659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgggggaccaggaatcCtgaactggtgttttgccaca	12	10	0	1	rs11887722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179416659C>T	ENST00000591111.1	-	285	86269	c.86045G>A	c.(86044-86046)aGg>aAg	p.R28682K	TTN_ENST00000342175.6_Missense_Mutation_p.R21450K|TTN_ENST00000359218.5_Missense_Mutation_p.R21383K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21258K|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30323K|TTN_ENST00000342992.6_Missense_Mutation_p.R27755K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28682					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)			ACCAGGAATCCTGAACTGGTG	0.448													C|||	180	0.0359425	0.1271	0.0159	5008	,	,		22703	0.0		0.001	False		,,,				2504	0.0				p.R30323K		Atlas-SNP	.											.	TTN	18412	.	0			c.G90968A						PASS	.	C	LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG	418,3824		24,370,1727	132	141	138		64349,64148,83264,63773	5.8	1	2	dbSNP_120	138	8,8456		0,8,4224	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	26,26,26,26	24,378,5951	TT,TC,CC		0.0945,9.8538,3.3527	benign,benign,benign,benign	21450/27119,21383/27052,27755/33424,21258/26927	179416659	426,12280	2121	4232	6353	SO:0001583	missense	7273	exon335			GGAATCCTGAACT	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.86045G>A	2.37:g.179416659C>T	ENSP00000465570:p.Arg28682Lys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	109	56	0.513761	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	37		86	0.039377289377289376	78	0.15853658536585366	8	0.022099447513812154	0	0.0	0	0.0	C	13.17	2.157290	0.38119	0.098538	9.45E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62105	0.05;0.29;0.27;0.26	5.76	5.76	0.90799	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00178	0.0005	N	0.03608	-0.345	0.21933	P	0.999463905	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.03184	-1.1063	8	0.87932	D	0	.	12.6943	0.56994	0.0:0.8821:0.0:0.1179	rs11887722;rs52822649;rs11887722	21258;21383;21450;28682	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27755;21258;21450;21383;21255	ENSP00000343764:R27755K;ENSP00000434586:R21258K;ENSP00000340554:R21450K;ENSP00000352154:R21383K	ENSP00000340554:R21450K	R	-	2	0	TTN	179124905	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.947000	0.40293	2.719000	0.93026	0.655000	0.94253	AGG	C|0.949;T|0.051	0.051	strong		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179416659	C	T	179416659	3	4	22	1	0	0	0	0	1	0	0	0	16732	681	24	2	17123	2	TTN	2	179416659	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103	179416659	63782714	1702	6810										
TTN	7273	hgsc.bcm.edu	37	chr2	179428061	179428061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatagcctttaacaggtgCgccaccatcataaattggct	7	11	1	0	rs11896637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179428061C>T	ENST00000591111.1	-	276	78099	c.77875G>A	c.(77875-77877)Gca>Aca	p.A25959T	TTN_ENST00000589042.1_Missense_Mutation_p.A27600T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A18535T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25032T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18660T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18727T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25959	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAGGTGCGCCACCATCA	0.493													C|||	178	0.0355431	0.1256	0.0159	5008	,	,		21438	0.0		0.001	False		,,,				2504	0.0				p.A27600T		Atlas-SNP	.											.	TTN	18412	.	0			c.G82798A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	398,3684		21,356,1664	72	71	71		56179,55978,75094,55603	3.9	0.3	2	dbSNP_120	71	8,8402		0,8,4197	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	21,364,5861	TT,TC,CC		0.0951,9.7501,3.2501	benign,benign,benign,benign	18727/27119,18660/27052,25032/33424,18535/26927	179428061	406,12086	2041	4205	6246	SO:0001583	missense	7273	exon326			CAGGTGCGCCACC	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.77875G>A	2.37:g.179428061C>T	ENSP00000465570:p.Ala25959Thr	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	238	115	0.483193	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	37		85	0.03891941391941392	77	0.1565040650406504	8	0.022099447513812154	0	0.0	0	0.0	C	18.20	3.570710	0.65765	0.097501	9.51E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.74	3.93	0.45458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00241	0.0007	L	0.47190	1.495	0.19300	P	0.9999757677	B;B;B;B	0.22414	0.069;0.069;0.069;0.02	B;B;B;B	0.17433	0.018;0.018;0.018;0.018	T	0.06481	-1.0824	8	0.87932	D	0	.	12.9829	0.58575	0.0:0.8666:0.0:0.1334	rs11896637;rs52798942;rs11896637	18535;18660;18727;25959	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25032;18535;18727;18660;18533	ENSP00000343764:A25032T;ENSP00000434586:A18535T;ENSP00000340554:A18727T;ENSP00000352154:A18660T	ENSP00000340554:A18727T	A	-	1	0	TTN	179136307	0.999000	0.42202	0.344000	0.25628	0.992000	0.81027	4.111000	0.57838	0.755000	0.32990	0.563000	0.77884	GCA	C|0.965;T|0.035	0.035	strong		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179428061	C	T	179428061	3	4	22	1	0	0	0	0	1	0	0	0	16732	768	27	1	25329	1	TTN	2	179428061	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11402	179428061	63771312	1703	6811										
TTN	7273	hgsc.bcm.edu	37	chr2	179430224	179430224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaactttaaactaggctGtatagtcaagtccttggcta	9	7	1	0	rs79926414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179430224G>T	ENST00000591111.1	-	276	75936	c.75712C>A	c.(75712-75714)Cag>Aag	p.Q25238K	TTN_ENST00000589042.1_Missense_Mutation_p.Q26879K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q17814K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24311K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17939K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18006K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25238					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)			AAACTAGGCTGTATAGTCAAG	0.388													G|||	79	0.0157748	0.0567	0.0058	5008	,	,		22772	0.0		0.0	False		,,,				2504	0.0				p.Q26879K		Atlas-SNP	.											.	TTN	18412	.	0			c.C80635A						PASS	.	G	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	176,3544		5,166,1689	130	127	128		54016,53815,72931,53440	5.5	1	2	dbSNP_131	128	1,8199		0,1,4099	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	53,53,53,53	5,167,5788	TT,TG,GG		0.0122,4.7312,1.4849	benign,benign,benign,benign	18006/27119,17939/27052,24311/33424,17814/26927	179430224	177,11743	1860	4100	5960	SO:0001583	missense	7273	exon326			TAGGCTGTATAGT	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.75712C>A	2.37:g.179430224G>T	ENSP00000465570:p.Gln25238Lys	Somatic	199	1	0.00502513		WXS	Illumina HiSeq	Phase_I	151	90	0.596026	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	37		42	0.019230769230769232	39	0.07926829268292683	3	0.008287292817679558	0	0.0	0	0.0	G	9.263	1.043608	0.19748	0.047312	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.33;0.3;0.3	5.49	5.49	0.81192	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01835	0.0058	N	0.00465	-1.465	0.26115	N	0.980629	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.07028	-1.0794	9	0.87932	D	0	.	14.8449	0.70254	0.0:0.2548:0.7452:0.0	.	17814;17939;18006;25238	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24311;17814;18006;17939;17812	ENSP00000343764:Q24311K;ENSP00000434586:Q17814K;ENSP00000340554:Q18006K;ENSP00000352154:Q17939K	ENSP00000340554:Q18006K	Q	-	1	0	TTN	179138470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.169000	0.50809	2.595000	0.87683	0.484000	0.47621	CAG	G|0.976;T|0.024	0.024	strong		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179430224	G	T	179430224	3	4	22	1	0	0	0	0	1	0	0	0	16732	1386	48	4	27492	4	TTN	2	179430224	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2163	179430224	63769149	1704	6812										
TTN	7273	hgsc.bcm.edu	37	chr2	179434516	179434516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattgtccattcaccaacaCtcacatcacatttttcaaca	1	14	4	0	rs3813243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179434516C>T	ENST00000591111.1	-	276	71644	c.71420G>A	c.(71419-71421)aGt>aAt	p.S23807N	TTN_ENST00000342175.6_Missense_Mutation_p.S16575N|TTN_ENST00000359218.5_Missense_Mutation_p.S16508N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16383N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25448N|TTN_ENST00000342992.6_Missense_Mutation_p.S22880N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23807	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.		S -> N. {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:7569978}.		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)			TTCACCAACACTCACATCACA	0.368													C|||	397	0.0792732	0.0855	0.0418	5008	,	,		21664	0.1736		0.0328	False		,,,				2504	0.0481				p.S25448N		Atlas-SNP	.											.	TTN	18412	.	0			c.G76343A						PASS	.	C	ASN/SER,ASN/SER,ASN/SER,ASN/SER	241,3527		8,225,1651	146	131	135		49148,68639,49523,49724	5.9	1	2	dbSNP_107	135	167,8095		4,159,3968	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	46,46,46,46	12,384,5619	TT,TC,CC		2.0213,6.396,3.3915	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	16383/26927,22880/33424,16508/27052,16575/27119	179434516	408,11622	1884	4131	6015	SO:0001583	missense	7273	exon326			CCAACACTCACAT	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.71420G>A	2.37:g.179434516C>T	ENSP00000465570:p.Ser23807Asn	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	68	40	0.588235	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	37		177	0.08104395604395605	37	0.07520325203252033	16	0.04419889502762431	101	0.17657342657342656	23	0.030343007915567283	C	12.11	1.839419	0.32513	0.06396	0.020213	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00073	0.0002	N	0.17800	0.525	0.28382	P	0.9194971	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.38106	0.265;0.265;0.265;0.197	T	0.03095	-1.1073	8	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	rs3813243;rs52789452;rs3813243	16383;16508;16575;23807	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22880;16383;16575;16508;16381	ENSP00000343764:S22880N;ENSP00000434586:S16383N;ENSP00000340554:S16575N;ENSP00000352154:S16508N	ENSP00000340554:S16575N	S	-	2	0	TTN	179142762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.542000	0.53625	2.795000	0.96236	0.655000	0.94253	AGT	C|0.918;T|0.082	0.082	strong		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179434516	C	T	179434516	3	4	22	1	0	0	0	0	1	0	0	0	16732	565	20	2	31784	2	TTN	2	179434516	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4292	179434516	63764857	1705	6813										
TTN	7273	hgsc.bcm.edu	37	chr2	179435337	179435337	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccactgtcgacacgtacTgcatcttttacactgagact	6	12	1	1	rs6732060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179435337T>G	ENST00000591111.1	-	276	70823	c.70599A>C	c.(70597-70599)gcA>gcC	p.A23533A	TTN_ENST00000342175.6_Silent_p.A16301A|TTN_ENST00000359218.5_Silent_p.A16234A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.A16109A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A25174A|TTN_ENST00000342992.6_Silent_p.A22606A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23533	Ig-like 119.				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)			CGACACGTACTGCATCTTTTA	0.438													T|||	717	0.143171	0.2405	0.1801	5008	,	,		22705	0.0258		0.0527	False		,,,				2504	0.1994				p.A25174A		Atlas-SNP	.											.	TTN	18412	.	0			c.A75522C						PASS	.	T	,,,	826,3038		99,628,1205	125	114	117		48327,67818,48702,48903	1.9	0.6	2	dbSNP_116	117	270,7992		9,252,3870	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	108,880,5075	GG,GT,TT		3.268,21.3768,9.0384	,,,	16109/26927,22606/33424,16234/27052,16301/27119	179435337	1096,11030	1932	4131	6063	SO:0001819	synonymous_variant	7273	exon326			ACGTACTGCATCT	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.70599A>C	2.37:g.179435337T>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	168	72	0.428571	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				T|0.892;G|0.108	0.108	strong		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179435337	T	G	179435337	2	3	22	1	0	0	0	0	0	0	0	1	16732	1567	55	5		5	TTN	2	179435337	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	821	179435337	63764036	1706	6814										
TTN	7273	hgsc.bcm.edu	37	chr2	179435887	179435887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atactttactcggcttgccaAtgcccacgatgttctctgca	7	13	1	0	rs744427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179435887A>G	ENST00000591111.1	-	276	70273	c.70049T>C	c.(70048-70050)aTt>aCt	p.I23350T	TTN_ENST00000589042.1_Missense_Mutation_p.I24991T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15926T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22423T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16051T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16118T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23350	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGCTTGCCAATGCCCACGAT	0.438													A|||	82	0.0163738	0.0582	0.0072	5008	,	,		22831	0.0		0.0	False		,,,				2504	0.0				p.I24991T		Atlas-SNP	.											.	TTN	18412	.	0			c.T74972C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	193,3777		5,183,1797	107	108	107		48353,48152,67268,47777	4.1	0.9	2	dbSNP_86	107	1,8337		0,1,4168	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	89,89,89,89	5,184,5965	GG,GA,AA		0.012,4.8615,1.5762	benign,benign,benign,benign	16118/27119,16051/27052,22423/33424,15926/26927	179435887	194,12114	1985	4169	6154	SO:0001583	missense	7273	exon326			TTGCCAATGCCCA	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.70049T>C	2.37:g.179435887A>G	ENSP00000465570:p.Ile23350Thr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	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	37		42	0.019230769230769232	39	0.07926829268292683	3	0.008287292817679558	0	0.0	0	0.0	A	9.233	1.036446	0.19669	0.048615	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.28	4.13	0.48395	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02418	0.0074	L	0.33093	0.98	0.25488	N	0.987672	B;B;B;B	0.09022	0.0;0.0;0.002;0.002	B;B;B;B	0.09377	0.001;0.001;0.004;0.004	T	0.05419	-1.0886	9	0.87932	D	0	.	11.1794	0.48618	0.9275:0.0:0.0725:0.0	rs744427;rs52837048;rs744427	15926;16051;16118;23350	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22423;15926;16118;16051;15924	ENSP00000343764:I22423T;ENSP00000434586:I15926T;ENSP00000340554:I16118T;ENSP00000352154:I16051T	ENSP00000340554:I16118T	I	-	2	0	TTN	179144133	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	6.333000	0.72939	0.959000	0.37980	-0.256000	0.11100	ATT	A|0.984;G|0.016	0.016	strong		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179435887	A	G	179435887	3	3	22	1	0	0	0	0	1	0	0	0	16732	101	4	2	33155	2	TTN	2	179435887	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	550	179435887	63763486	1707	6815										
TTN	7273	hgsc.bcm.edu	37	chr2	179441917	179441917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagcagaaacattactgaTttcaacaggacctgggggac	10	9	2	2	rs72646881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179441917T>C	ENST00000591111.1	-	274	64446	c.64222A>G	c.(64222-64224)Atc>Gtc	p.I21408V	TTN_ENST00000589042.1_Missense_Mutation_p.I23049V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13984V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20481V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I14109V|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14176V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21408	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTACTGATTTCAACAGGA	0.448													T|||	182	0.0363419	0.1278	0.0173	5008	,	,		21850	0.0		0.001	False		,,,				2504	0.0				p.I23049V		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,+2,5	TTN	18412	5	0			c.A69145G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	402,3490		24,354,1568	60	59	59		42526,42325,61441,41950	3.2	1	2	dbSNP_130	59	8,8272		0,8,4132	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	24,362,5700	CC,CT,TT		0.0966,10.3289,3.3684	benign,benign,benign,benign	14176/27119,14109/27052,20481/33424,13984/26927	179441917	410,11762	1946	4140	6086	SO:0001583	missense	7273	exon324			TACTGATTTCAAC	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.64222A>G	2.37:g.179441917T>C	ENSP00000465570:p.Ile21408Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	56	0.482759	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	37		86	0.039377289377289376	78	0.15853658536585366	8	0.022099447513812154	0	0.0	0	0.0	T	10.04	1.241565	0.22711	0.103289	9.66E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.62	3.18	0.36537	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00073	0.0002	N	0.02368	-0.58	0.40312	P	0.02127100000000004	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.07616	-1.0763	8	0.87932	D	0	.	4.7345	0.12981	0.129:0.2044:0.0:0.6665	.	13984;14109;14176;21408	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20481;13984;14176;14109;13982	ENSP00000343764:I20481V;ENSP00000434586:I13984V;ENSP00000340554:I14176V;ENSP00000352154:I14109V	ENSP00000340554:I14176V	I	-	1	0	TTN	179150163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.225000	0.32551	0.466000	0.27193	0.533000	0.62120	ATC	T|0.967;C|0.033	0.033	strong		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179441917	T	C	179441917	3	2	22	1	0	0	0	0	1	0	0	0	16732	1493	52	2	38990	2	TTN	2	179441917	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6030	179441917	63757456	1708	6816										
TTN	7273	hgsc.bcm.edu	37	chr2	179447787	179447787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggtgcacagattccgctGcatggccatctttatgcctt	9	12	1	1	rs62618736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179447787G>T	ENST00000591111.1	-	263	61044	c.60820C>A	c.(60820-60822)Cag>Aag	p.Q20274K	TTN_ENST00000589042.1_Missense_Mutation_p.Q21915K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q12850K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q19347K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q12975K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q13042K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20274	Ig-like 111.				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)			AGATTCCGCTGCATGGCCATC	0.458													G|||	80	0.0159744	0.0575	0.0058	5008	,	,		18275	0.0		0.0	False		,,,				2504	0.0				p.Q21915K		Atlas-SNP	.											.	TTN	18412	.	0			c.C65743A						PASS	.	G	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	187,3793		5,177,1808	81	78	79		39124,38923,58039,38548	-1.6	1	2	dbSNP_129	79	1,8339		0,1,4169	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	53,53,53,53	5,178,5977	TT,TG,GG		0.012,4.6985,1.526	benign,benign,benign,benign	13042/27119,12975/27052,19347/33424,12850/26927	179447787	188,12132	1990	4170	6160	SO:0001583	missense	7273	exon313			TCCGCTGCATGGC	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.60820C>A	2.37:g.179447787G>T	ENSP00000465570:p.Gln20274Lys	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	228	122	0.535088	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	37		42	0.019230769230769232	39	0.07926829268292683	3	0.008287292817679558	0	0.0	0	0.0	G	14.68	2.608015	0.46527	0.046985	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.82	-1.62	0.08372	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02970	0.0088	N	0.04132	-0.27	0.23946	N	0.99638	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	0.03898	-1.0994	9	0.87932	D	0	.	18.5575	0.91090	0.0:0.0:0.6894:0.3106	rs62618736	12850;12975;13042;20274	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19347;12850;13042;12975;12848	ENSP00000343764:Q19347K;ENSP00000434586:Q12850K;ENSP00000340554:Q13042K;ENSP00000352154:Q12975K	ENSP00000340554:Q13042K	Q	-	1	0	TTN	179156033	0.009000	0.17119	0.957000	0.39632	0.907000	0.53573	0.075000	0.14686	-0.544000	0.06232	-0.274000	0.10170	CAG	G|0.985;T|0.015	0.015	strong		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179447787	G	T	179447787	3	4	22	1	0	0	0	0	1	0	0	0	16732	1328	46	4	42436	4	TTN	2	179447787	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5870	179447787	63751586	1709	6817										
TTN	7273	hgsc.bcm.edu	37	chr2	179474668	179474668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtaatagtcattgcctccGctgtaggattatgaacctct	8	9	2	1	rs16866412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179474668G>A	ENST00000591111.1	-	222	46783	c.46559C>T	c.(46558-46560)gCg>gTg	p.A15520V	TTN_ENST00000342175.6_Missense_Mutation_p.A8288V|TTN_ENST00000359218.5_Missense_Mutation_p.A8221V|TTN_ENST00000460472.2_Missense_Mutation_p.A8096V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A17161V|TTN_ENST00000342992.6_Missense_Mutation_p.A14593V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15520	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> V. {ECO:0000269|PubMed:17344846}.		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)			CATTGCCTCCGCTGTAGGATT	0.413													G|||	364	0.0726837	0.087	0.0216	5008	,	,		21482	0.1558		0.0209	False		,,,				2504	0.0573				p.A17161V		Atlas-SNP	.											.	TTN	18412	.	0			c.C51482T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	254,3504		8,238,1633	158	148	151		24287,43778,24662,24863	5.7	1	2	dbSNP_123	151	108,8118		1,106,4006	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	64,64,64,64	9,344,5639	AA,AG,GG		1.3129,6.7589,3.0207	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8096/26927,14593/33424,8221/27052,8288/27119	179474668	362,11622	1879	4113	5992	SO:0001583	missense	7273	exon272			GCCTCCGCTGTAG	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.46559C>T	2.37:g.179474668G>A	ENSP00000465570:p.Ala15520Val	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	177	79	0.446328	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	37		159	0.07280219780219781	45	0.09146341463414634	12	0.03314917127071823	89	0.1555944055944056	13	0.017150395778364115	G	16.58	3.162036	0.57368	0.067589	0.013129	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00496	0.0016	L	0.46567	1.45	0.21627	P	0.999615188	D;D;D;D	0.61080	0.98;0.989;0.989;0.98	P;P;P;P	0.54401	0.535;0.751;0.751;0.611	T	0.00837	-1.1546	8	0.87932	D	0	.	19.8424	0.96695	0.0:0.0:1.0:0.0	rs16866412;rs52807556;rs16866412	8096;8221;8288;15520	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	14593;8096;8288;8221;8096	ENSP00000343764:A14593V;ENSP00000434586:A8096V;ENSP00000340554:A8288V;ENSP00000352154:A8221V	ENSP00000340554:A8288V	A	-	2	0	TTN	179182913	1.000000	0.71417	0.975000	0.42487	0.843000	0.47879	9.807000	0.99171	2.673000	0.90976	0.655000	0.94253	GCG	G|0.932;A|0.068	0.068	strong		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179474668	G	A	179474668	3	1	22	1	0	0	0	0	1	0	0	0	16732	1087	38	1	56575	1	TTN	2	179474668	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26881	179474668	63724705	1710	6818										
TTN	7273	hgsc.bcm.edu	37	chr2	179479245	179479245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccacacacattcacagcCtcaatgatatatgtgccagt	7	13	2	1	rs72677244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179479245C>T	ENST00000591111.1	-	211	44297	c.44073G>A	c.(44071-44073)gaG>gaA	p.E14691E	TTN_ENST00000589042.1_Silent_p.E16332E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.E7267E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.E13764E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Silent_p.E7392E|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.E7459E|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14691	Ig-like 96.				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)			CATTCACAGCCTCAATGATAT	0.418													C|||	363	0.072484	0.0847	0.0231	5008	,	,		18504	0.1567		0.0209	False		,,,				2504	0.0573				p.E16332E		Atlas-SNP	.											.	TTN	18412	.	0			c.G48996A						PASS	.	C	,,,	251,3699		7,237,1731	96	92	94		21801,41292,22176,22377	2.9	1	2	dbSNP_130	94	105,8175		1,103,4036	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	8,340,5767	TT,TC,CC		1.2681,6.3544,2.9109	,,,	7267/26927,13764/33424,7392/27052,7459/27119	179479245	356,11874	1975	4140	6115	SO:0001819	synonymous_variant	7273	exon261			CACAGCCTCAATG	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.44073G>A	2.37:g.179479245C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	141	66	0.468085	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				C|0.941;T|0.059	0.059	strong		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179479245	C	T	179479245	2	4	22	1	0	0	0	0	0	0	0	1	16732	680	24	2		2	TTN	2	179479245	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4577	179479245	63720128	1711	6819										
TTN	7273	hgsc.bcm.edu	37	chr2	179498303	179498303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcaccatctttgaaccaTttcactggtacatctttgct	4	12	5	1	rs16866425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179498303T>C	ENST00000591111.1	-	182	38084	c.37860A>G	c.(37858-37860)aaA>aaG	p.K12620K	TTN_ENST00000589042.1_Silent_p.K14261K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.K5196K|TTN_ENST00000342992.6_Silent_p.K11693K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.K5321K|TTN_ENST00000342175.6_Silent_p.K5388K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12620	Ig-like 84.				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)			CTTTGAACCATTTCACTGGTA	0.428													T|||	548	0.109425	0.1566	0.1556	5008	,	,		19292	0.0228		0.0328	False		,,,				2504	0.181				p.K14261K		Atlas-SNP	.											.	TTN	18412	.	0			c.A42783G						PASS	.	T	,,,	538,3268		40,458,1405	99	92	94		15588,35079,15963,16164	3.6	1	2	dbSNP_123	94	174,8086		4,166,3960	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	44,624,5365	CC,CT,TT		2.1065,14.1356,5.9009	,,,	5196/26927,11693/33424,5321/27052,5388/27119	179498303	712,11354	1903	4130	6033	SO:0001819	synonymous_variant	7273	exon232			GAACCATTTCACT	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.37860A>G	2.37:g.179498303T>C		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	241	106	0.439834	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.000;C|0.061;T|0.938	0.061	strong		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179498303	T	C	179498303	2	2	22	1	0	0	0	0	0	0	0	1	16732	1490	52	2		2	TTN	2	179498303	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19058	179498303	63701070	1712	6820										
TTN	7273	hgsc.bcm.edu	37	chr2	179514942	179514959	+	In_Frame_Del	DEL	TTTCCTCTTCAGGAGCAA	TTTCCTCTTCAGGAGCAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgcaacaggaactggctTttcctcttcaggagcaattt					rs374976705|rs139512154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TTTCCTCTTCAGGAGCAA	TTTCCTCTTCAGGAGCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179514942_179514959delTTTCCTCTTCAGGAGCAA	ENST00000591111.1	-	165	35452_35469	c.35228_35245delTTGCTCCTGAAGAGGAAA	c.(35227-35247)attgctcctgaagaggaaaag>aag	p.IAPEEE11743del	TTN_ENST00000589042.1_In_Frame_Del_p.IAPEEE13250del|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_In_Frame_Del_p.IAPEEE10816del|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11743	Glu-rich.|Pro-rich.				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)			GGAACTGGCTTTTCCTCTTCAGGAGCAATTTCCTCTTC	0.381														166	0.033147	0.084	0.0173	5008	,	,		20291	0.0119		0.0139	False		,,,				2504	0.0174				p.13250_13256del		Pindel,Atlas-Indel	.											.	TTN	18412	.	0			c.39750_39767del						PASS	.		,,,	109,3367		6,97,1635					,,,	1.6	1		dbSNP_134	28	38,7756		1,36,3860	no	intron,intron,coding,intron	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	,,,	7,133,5495	A1A1,A1R,RR		0.4876,3.1358,1.3043	,,,	,,,		147,11123				SO:0001651	inframe_deletion	7273	exon210			.	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.35228_35245delTTGCTCCTGAAGAGGAAA	2.37:g.179514942_179514959delTTTCCTCTTCAGGAGCAA	ENSP00000465570:p.Ile11743_Glu11748del	Somatic	220	.	.		WXS	Illumina HiSeq	Phase_I	197	39	0.198	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	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																				TTTCCTCTTCAGGAGCAA|0.972;-|0.028	0.028	strong		0.381	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179514959	TTTCCTCTTCAGGAGCAA	-	179514942	7	5	22	1	0	1	0	1	0	0	0	0	16732	1850	64	0	68117	0	TTN	2	179514942	In_Frame_Del	DEL	TTTCCTCTTCAGGAGCAA	TCGA-G8-6324-01A-11D-2210-10	16639	179514942	63684431	1713	6821										
TTN	7273	hgsc.bcm.edu	37	chr2	179552895	179552895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttcttcttctctataaaCtgaaatggacacaccttcct	3	12	4	1	rs72650028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179552895C>T	ENST00000591111.1	-	125	31527	c.31303G>A	c.(31303-31305)Gtt>Att	p.V10435I	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10752I|TTN_ENST00000342992.6_Missense_Mutation_p.V9508I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			TCTCTATAAACTGAAATGGAC	0.393													C|||	66	0.0131789	0.0477	0.0043	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0				p.V10752I		Atlas-SNP	.											.	TTN	18412	.	0			c.G32254A						PASS	.	C	ILE/VAL,,,	126,3626		1,124,1751	168	169	168		28522,,,	4.9	1	2	dbSNP_130	168	2,8194		0,2,4096	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	1,126,5847	TT,TC,CC		0.0244,3.3582,1.0713	possibly-damaging,,,	9508/33424,,,	179552895	128,11820	1876	4098	5974	SO:0001583	missense	7273	exon127			TATAAACTGAAAT	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.31303G>A	2.37:g.179552895C>T	ENSP00000465570:p.Val10435Ile	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	147	78	0.530612	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	37		22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	C	14.87	2.665728	0.47677	0.033582	2.44E-4	ENSG00000155657	ENST00000342992	T	0.71222	-0.55	4.94	4.94	0.65067	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47985	0.1475	L	0.49778	1.585	0.80722	D	1	P	0.44690	0.841	P	0.55824	0.785	T	0.69355	-0.5167	9	0.87932	D	0	.	14.0185	0.64539	0.0:1.0:0.0:0.0	.	10435	Q8WZ42	TITIN_HUMAN	I	9508	ENSP00000343764:V9508I	ENSP00000343764:V9508I	V	-	1	0	TTN	179261140	0.996000	0.38824	1.000000	0.80357	0.951000	0.60555	2.506000	0.45433	2.460000	0.83146	0.467000	0.42956	GTT	C|0.991;T|0.009	0.009	strong		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179552895	C	T	179552895	3	4	22	1	0	0	0	0	1	0	0	0	16732	565	20	2	72219	2	TTN	2	179552895	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37953	179552895	63646478	1714	6822										
TTN	7273	hgsc.bcm.edu	37	chr2	179554305	179554305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttcttctgtcacaactcCcttctgtacttcaggaactt	4	12	5	0	rs2244492	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179554305C>T	ENST00000591111.1	-	121	31137	c.30913G>A	c.(30913-30915)Gga>Aga	p.G10305R	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G10622R|TTN_ENST00000342992.6_Missense_Mutation_p.G9378R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.			G -> R (in Ref. 3; CAD12456). {ECO:0000305}.	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)			GTCACAACTCCCTTCTGTACT	0.358													T|||	2070	0.413339	0.6067	0.3501	5008	,	,		19129	0.1677		0.3827	False		,,,				2504	0.4816				p.G10622R		Atlas-SNP	.											.	TTN	18412	.	0			c.G31864A						PASS	.	T	,,,ARG/GLY	2207,1503		654,899,302	229	224	225		,,,28132	5.3	1	2	dbSNP_100	225	2955,5243		514,1927,1658	yes	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,125	1168,2826,1960	TT,TC,CC		36.0454,40.5121,43.349	,,,benign	,,,9378/33424	179554305	5162,6746	1855	4099	5954	SO:0001583	missense	7273	exon123			CAACTCCCTTCTG	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.30913G>A	2.37:g.179554305C>T	ENSP00000465570:p.Gly10305Arg	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	178	178	1	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	37		812	0.3717948717948718	292	0.5934959349593496	139	0.3839779005524862	84	0.14685314685314685	297	0.391820580474934	T	10.60	1.396903	0.25205	0.594879	0.360454	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.63913	-0.07;-0.07	5.34	5.34	0.76211	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.9999999999991834	.	.	.	.	.	.	T	0.41980	-0.9478	6	0.87932	D	0	.	10.226	0.43225	0.0:0.0756:0.0:0.9244	rs2244492;rs17355152;rs2244492	.	.	.	R	9378;500	ENSP00000343764:G9378R;ENSP00000401501:G500R	ENSP00000343764:G9378R	G	-	1	0	TTN	179262550	0.313000	0.24554	0.960000	0.40013	0.986000	0.74619	3.252000	0.51461	0.971000	0.38288	-0.254000	0.11334	GGA	C|0.624;T|0.376	0.376	strong		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179554305	C	T	179554305	3	4	22	1	0	0	0	0	1	0	0	0	16732	632	22	2	72625	2	TTN	2	179554305	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1410	179554305	63645068	1715	6823										
TTN	7273	hgsc.bcm.edu	37	chr2	179560847	179560847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttcgtcataaggttcttCgaaagattcaatgaagactc	8	8	3	3	rs73038324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179560847C>T	ENST00000591111.1	-	112	30225	c.30001G>A	c.(30001-30003)Gaa>Aaa	p.E10001K	TTN_ENST00000589042.1_Missense_Mutation_p.E10318K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9074K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				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)			TAAGGTTCTTCGAAAGATTCA	0.383													C|||	194	0.038738	0.1377	0.0159	5008	,	,		19287	0.0		0.001	False		,,,				2504	0.0				p.E10318K		Atlas-SNP	.											.	TTN	18412	.	0			c.G30952A						PASS	.	C	,,,LYS/GLU	347,3211		17,313,1449	126	105	111		,,,27220	5.8	0.9	2	dbSNP_130	111	9,7899		0,9,3945	yes	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,56	17,322,5394	TT,TC,CC		0.1138,9.7527,3.1048	,,,benign	,,,9074/33424	179560847	356,11110	1779	3954	5733	SO:0001583	missense	7273	exon114			GTTCTTCGAAAGA	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.30001G>A	2.37:g.179560847C>T	ENSP00000465570:p.Glu10001Lys	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	234	119	0.508547	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	37		84	0.038461538461538464	77	0.1565040650406504	7	0.019337016574585635	0	0.0	0	0.0	C	18.27	3.586510	0.66105	0.097527	0.001138	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.64260	-0.09	5.78	5.78	0.91487	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.00356	0.0011	M	0.66939	2.045	0.09310	P	1.0	B;P	0.50710	0.327;0.938	B;B	0.36845	0.026;0.234	T	0.36915	-0.9728	8	0.87932	D	0	.	15.5205	0.75862	0.0:1.0:0.0:0.0	.	10001;10001	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9074;196	ENSP00000343764:E9074K	ENSP00000343764:E9074K	E	-	1	0	TTN	179269092	0.966000	0.33281	0.949000	0.38748	0.899000	0.52679	2.415000	0.44635	2.729000	0.93468	0.650000	0.86243	GAA	C|0.968;T|0.032	0.032	strong		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179560847	C	T	179560847	3	4	22	1	0	0	0	0	1	0	0	0	16732	893	31	1	73573	1	TTN	2	179560847	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6542	179560847	63638526	1716	6824										
TTN	7273	hgsc.bcm.edu	37	chr2	179577870	179577870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatattagtagctatacaTgtgtagtcaccactgtctga	8	9	2	1	rs61232800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179577870T>C	ENST00000591111.1	-	91	26264	c.26040A>G	c.(26038-26040)acA>acG	p.T8680T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.T8997T|TTN_ENST00000342992.6_Silent_p.T7753T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12837	Ig-like 69.				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)			TAGCTATACATGTGTAGTCAC	0.388													T|||	122	0.024361	0.0893	0.0058	5008	,	,		22217	0.0		0.0	False		,,,				2504	0.0				p.T8997T		Atlas-SNP	.											.	TTN	18412	.	0			c.A26991G						PASS	.	T	,,,	265,3699		10,245,1727	90	90	90		,23259,,	-11.7	0.5	2	dbSNP_129	90	13,8331		0,13,4159	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	10,258,5886	CC,CT,TT		0.1558,6.6852,2.2587	,,,	,7753/33424,,	179577870	278,12030	1982	4172	6154	SO:0001819	synonymous_variant	7273	exon93			TATACATGTGTAG	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.26040A>G	2.37:g.179577870T>C		Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	288	134	0.465278	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				T|0.981;C|0.019	0.019	strong		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179577870	T	C	179577870	2	2	22	1	0	0	0	0	0	0	0	1	16732	1451	51	2		2	TTN	2	179577870	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17023	179577870	63621503	1717	6825										
TTN	7273	hgsc.bcm.edu	37	chr2	179586779	179586779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcggttgagcaccagtaacAtgacactcaaaatcagcact	7	11	2	2	rs16866469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179586779A>G	ENST00000591111.1	-	76	21884	c.21660T>C	c.(21658-21660)caT>caC	p.H7220H	TTN_ENST00000589042.1_Silent_p.H7537H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.H6293H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12789	Ig-like 54.				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)			CACCAGTAACATGACACTCAA	0.428													A|||	101	0.0201677	0.0749	0.0029	5008	,	,		21079	0.0		0.0	False		,,,				2504	0.0				p.H7537H		Atlas-SNP	.											.	TTN	18412	.	0			c.T22611C						PASS	.	A	,,,	195,3703		6,183,1760	229	217	221		,18879,,	-2.7	1	2	dbSNP_123	221	6,8288		0,6,4141	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	6,189,5901	GG,GA,AA		0.0723,5.0026,1.6486	,,,	,6293/33424,,	179586779	201,11991	1949	4147	6096	SO:0001819	synonymous_variant	7273	exon78			AGTAACATGACAC	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.21660T>C	2.37:g.179586779A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	120	58	0.483333	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.982;G|0.018	0.018	strong		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179586779	A	G	179586779	2	3	22	1	0	0	0	0	0	0	0	1	16732	214	8	2		2	TTN	2	179586779	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8909	179586779	63612594	1718	6826										
TTN	7273	hgsc.bcm.edu	37	chr2	179594590	179594590	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcggattttaggagtgccTgttatttggcattcaaatgt	10	6	1	0	rs66523653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179594590T>A	ENST00000591111.1	-	61	17663	c.17439A>T	c.(17437-17439)acA>acT	p.T5813T	TTN_ENST00000589042.1_Silent_p.T6130T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T4886T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12614	Ig-like 39.				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)			TAGGAGTGCCTGTTATTTGGC	0.408													T|||	78	0.0155751	0.0537	0.0101	5008	,	,		18115	0.0		0.0	False		,,,				2504	0.0				p.T6130T		Atlas-SNP	.											.	TTN	18412	.	0			c.A18390T						PASS	.	T	,,,	168,3604		3,162,1721	58	56	57		,14658,,	2.1	1	2	dbSNP_130	57	1,8225		0,1,4112	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	3,163,5833	AA,AT,TT		0.0122,4.4539,1.4086	,,,	,4886/33424,,	179594590	169,11829	1886	4113	5999	SO:0001819	synonymous_variant	7273	exon63			AGTGCCTGTTATT	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.17439A>T	2.37:g.179594590T>A		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	237	118	0.49789	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				T|0.984;A|0.016	0.016	strong		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179594590	T	A	179594590	2	1	22	1	0	0	0	0	0	0	0	1	16732	1567	55	5		5	TTN	2	179594590	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7811	179594590	63604783	1719	6827										
TTN	7273	hgsc.bcm.edu	37	chr2	179598399	179598399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcattttcagccaggcaCgtgtatttgcctccaaaact	7	12	2	0	rs72648932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179598399C>T	ENST00000591111.1	-	51	14990	c.14766G>A	c.(14764-14766)acG>acA	p.T4922T	TTN_ENST00000589042.1_Silent_p.T5239T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T3995T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12314	Ig-like 29.				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)			CAGCCAGGCACGTGTATTTGC	0.378													C|||	120	0.0239617	0.0877	0.0058	5008	,	,		20602	0.0		0.0	False		,,,				2504	0.0				p.T5239T		Atlas-SNP	.											.	TTN	18412	.	0			c.G15717A						PASS	.	C	,,,	223,3501		8,207,1647	136	130	132		,11985,,	-7.5	1	2	dbSNP_130	132	7,8189		0,7,4091	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	8,214,5738	TT,TC,CC		0.0854,5.9882,1.9295	,,,	,3995/33424,,	179598399	230,11690	1862	4098	5960	SO:0001819	synonymous_variant	7273	exon53			CAGGCACGTGTAT	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.14766G>A	2.37:g.179598399C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	153	82	0.535948	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				C|0.980;T|0.020	0.020	strong		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179598399	C	T	179598399	2	4	22	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179598399	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3809	179598399	63600974	1720	6828										
TTN	7273	hgsc.bcm.edu	37	chr2	179605843	179605843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtggactttgctttgcaGggggtatcagtcatgtctgt	15	6	3	0	rs55895721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179605843G>A	ENST00000591111.1	-	46	11390	c.11166C>T	c.(11164-11166)ccC>ccT	p.P3722P	TTN_ENST00000342175.6_Silent_p.P3868P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.P3801P|TTN_ENST00000460472.2_Silent_p.P3676P|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.P4039P|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33762					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)			TTGCTTTGCAGGGGGTATCAG	0.502													G|||	120	0.0239617	0.0877	0.0058	5008	,	,		19060	0.0		0.0	False		,,,				2504	0.0				p.P4039P		Atlas-SNP	.											.	TTN	18412	.	0			c.C12117T						PASS	.	G	,,,	221,3551		9,203,1674	127	126	126		11028,,11403,11604	-0.9	0	2	dbSNP_129	126	7,8233		0,7,4113	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	9,210,5787	AA,AG,GG		0.085,5.859,1.8981	,,,	3676/26927,,3801/27052,3868/27119	179605843	228,11784	1886	4120	6006	SO:0001819	synonymous_variant	7273	exon48			TTTGCAGGGGGTA	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.11166C>T	2.37:g.179605843G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				G|0.981;A|0.019	0.019	strong		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179605843	G	A	179605843	2	1	22	1	0	0	0	0	0	0	0	1	16732	987	35	2		2	TTN	2	179605843	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7444	179605843	63593530	1721	6829										
TTN	7273	hgsc.bcm.edu	37	chr2	179610477	179610477	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccttggactaattttccAtctttgtaccagtaaaccgt	5	11	1	0	rs16866488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179610477A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.D5550D|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAATTTTCCATCTTTGTACC	0.418													A|||	51	0.0101837	0.0371	0.0029	5008	,	,		20781	0.0		0.0	False		,,,				2504	0.0				p.D5550D		Atlas-SNP	.											.	TTN	18412	.	0			c.T16650C						PASS	.	A	,,,,	123,4283	93.0+/-131.7	2,119,2082	118	118	118		,,16650,,	-0.3	1	2	dbSNP_123	118	4,8594	3.0+/-9.4	0,4,4295	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	2,123,6377	GG,GA,AA		0.0465,2.7916,0.9766	,,,,	,,5550/5605,,	179610477	127,12877	2203	4299	6502	SO:0001627	intron_variant	7273	exon46			TTTTCCATCTTTG	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.10361-3829T>C	2.37:g.179610477A>G		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	168	88	0.52381	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.987;G|0.013	0.013	strong		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179610477	A	G	179610477	1	3	22	0	1	0	0	0	0	0	0	0	16732	214	8	2		2	TTN	2	179610477	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4634	179610477	63588896	1722	6830										
TTN	7273	hgsc.bcm.edu	37	chr2	179610619	179610619	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctgaaattcaaaaaaaCtgtctgtgtagttgctcttt	6	9	3	1	rs16866489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179610619C>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5503T			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAAAAACTGTCTGTGTA	0.378													C|||	29	0.00579073	0.0204	0.0029	5008	,	,		21580	0.0		0.0	False		,,,				2504	0.0				p.S5503T		Atlas-SNP	.											.	TTN	18412	.	0			c.G16508C						PASS	.	C	,,THR/SER,,	80,4326	70.9+/-108.8	0,80,2123	114	111	112		,,16508,,	5.1	1	2	dbSNP_123	112	2,8596	1.2+/-3.3	0,2,4297	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,58,,	0,82,6420	GG,GC,CC		0.0233,1.8157,0.6306	,,,,	,,5503/5605,,	179610619	82,12922	2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AAAAAACTGTCTG	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.10361-3971G>C	2.37:g.179610619C>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	118	66	0.559322	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	12.68	2.011534	0.35511	0.018157	2.33E-4	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58210	0.35	5.94	5.06	0.68205	.	.	.	.	.	T	0.22704	0.0548	L	0.27053	0.805	0.80722	D	1	P	0.35272	0.493	B	0.33620	0.167	T	0.06770	-1.0808	9	0.30078	T	0.28	.	12.1518	0.54053	0.0:0.9185:0.0:0.0815	rs16866489;rs16866489	5503	Q8WZ42-6	.	T	5503;784	ENSP00000354117:S5503T	ENSP00000304714:S784T	S	-	2	0	TTN	179318864	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.864000	0.48404	2.816000	0.96949	0.563000	0.77884	AGT	C|0.992;G|0.008	0.008	strong		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179610619	C	G	179610619	1	3	22	0	1	0	0	0	0	0	0	0	16732	565	20	4		4	TTN	2	179610619	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	142	179610619	63588754	1723	6831										
TTN	7273	hgsc.bcm.edu	37	chr2	179610695	179610695	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcttttctttgctatcaCagcaaatatttcagaatctc	4	9	4	1	rs72648915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179610695C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V5478M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTATCACAGCAAATATT	0.403													T|||	192	0.0383387	0.1399	0.0101	5008	,	,		20502	0.0		0.0	False		,,,				2504	0.0				p.V5478M		Atlas-SNP	.											.	TTN	18412	.	0			c.G16432A						PASS	.	T	,,MET/VAL,,	529,3877	774.4+/-414.0	33,463,1707	108	105	106		,,16432,,	-6.2	0	2	dbSNP_130	106	7,8593	817.5+/-406.9	0,7,4293	no	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,21,,	33,470,6000	TT,TC,CC		0.0814,12.0064,4.1212	,,,,	,,5478/5605,,	179610695	536,12470	2203	4300	6503	SO:0001627	intron_variant	7273	exon46			CTATCACAGCAAA	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.10361-4047G>A	2.37:g.179610695C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		68	0.031135531135531136	63	0.12804878048780488	5	0.013812154696132596	0	0.0	0	0.0	T	0.009	-1.801722	0.00611	0.120064	8.14E-4	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59083	0.29	6.07	-6.15	0.02105	.	.	.	.	.	T	0.00300	0.0009	N	0.12182	0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.05550	-1.0878	8	0.25106	T	0.35	.	5.6092	0.17396	0.098:0.3526:0.417:0.1325	.	5478	Q8WZ42-6	.	M	5478;759	ENSP00000354117:V5478M	ENSP00000304714:V759M	V	-	1	0	TTN	179318940	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.290000	0.08354	-1.567000	0.01671	-1.170000	0.01741	GTG	C|0.961;T|0.039	0.039	strong		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179610695	C	T	179610695	1	4	22	0	1	0	0	0	0	0	0	0	16732	478	17	2		2	TTN	2	179610695	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76	179610695	63588678	1724	6832										
TTN	7273	hgsc.bcm.edu	37	chr2	179611680	179611680	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctctcttctgtaggtgtGtagaaatgctcatttggtgt	10	9	3	1	rs72648911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179611680G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.Y5149Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTAGGTGTGTAGAAATGCT	0.413													A|||	235	0.0469249	0.1725	0.0101	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.0				p.Y5149Y		Atlas-SNP	.											.	TTN	18412	.	0			c.C15447T						PASS	.	A	,,,,	667,3739	763.1+/-413.2	50,567,1586	138	134	135		,,15447,,	-2.6	0.9	2	dbSNP_130	135	8,8590	818.5+/-406.9	0,8,4291	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	50,575,5877	AA,AG,GG		0.093,15.1384,5.1907	,,,,	,,5149/5605,,	179611680	675,12329	2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AGGTGTGTAGAAA	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.10361-5032C>T	2.37:g.179611680G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	190	99	0.521053	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				G|0.954;A|0.046	0.046	strong		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179611680	G	A	179611680	1	1	22	0	1	0	0	0	0	0	0	0	16732	1372	48	2		2	TTN	2	179611680	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	985	179611680	63587693	1725	6833										
TTN	7273	hgsc.bcm.edu	37	chr2	179611851	179611851	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtgtggagtatctctcCagagtctctcctgggggtgt	17	8	2	1	rs72648910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179611851C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.L5092L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCTCTCCAGAGTCTCTC	0.527													T|||	200	0.0399361	0.1407	0.013	5008	,	,		15008	0.001		0.003	False		,,,				2504	0.001				p.L5092L		Atlas-SNP	.											TTN_ENST00000360870,NS,carcinoma,-2,1	TTN	18412	1	0			c.G15276A						scavenged	.	T	,,,,	323,4077	759.4+/-412.9	21,281,1898	61	73	69		,,15276,,	-10.5	0	2	dbSNP_130	69	6,8592	810.5+/-407.1	0,6,4293	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	21,287,6191	TT,TC,CC		0.0698,7.3409,2.5312	,,,,	,,5092/5605,,	179611851	329,12669	2200	4299	6499	SO:0001627	intron_variant	7273	exon46			TCTCTCCAGAGTC	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.10361-5203G>A	2.37:g.179611851C>T		Somatic	283	3	0.0106007		WXS	Illumina HiSeq	Phase_I	275	146	0.530909	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				C|0.965;T|0.035	0.035	strong		0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179611851	C	T	179611851	1	4	22	0	1	0	0	0	0	0	0	0	16732	581	21	2		2	TTN	2	179611851	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171	179611851	63587522	1726	6834										
TTN	7273	hgsc.bcm.edu	37	chr2	179613147	179613147	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacacttttagagatattGtgtgtgtcaggttgtaacgt	11	5	1	1	rs75785339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179613147G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H4660Q|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGATATTGTGTGTGTCAG	0.373													C|||	193	0.0385383	0.1407	0.0101	5008	,	,		18083	0.0		0.0	False		,,,				2504	0.0				p.H4660Q		Atlas-SNP	.											.	TTN	18412	.	0			c.C13980G						PASS	.	C	,,GLN/HIS,,	523,3883	761.1+/-413.0	31,461,1711	88	98	95		,,13980,,	0.5	0	2	dbSNP_131	95	8,8588	808.7+/-407.2	0,8,4290	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,24,,	31,469,6001	CC,CG,GG		0.0931,11.8702,4.084	,,,,	,,4660/5605,,	179613147	531,12471	2203	4298	6501	SO:0001627	intron_variant	7273	exon46			GATATTGTGTGTG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4703C>G	2.37:g.179613147G>C		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	317	147	0.463722	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		68	0.031135531135531136	63	0.12804878048780488	5	0.013812154696132596	0	0.0	0	0.0	C	6.309	0.425027	0.11987	0.118702	9.31E-4	ENSG00000155657	ENST00000360870	T	0.54479	0.57	5.05	0.501	0.16925	.	.	.	.	.	T	0.00210	0.0006	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	8	0.16896	T	0.51	.	0.9872	0.01449	0.2832:0.2095:0.3228:0.1845	.	4660	Q8WZ42-6	.	Q	4660	ENSP00000354117:H4660Q	ENSP00000354117:H4660Q	H	-	3	2	TTN	179321392	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-1.023000	0.03607	0.113000	0.18004	-0.127000	0.14921	CAC	G|0.964;C|0.036	0.036	strong		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179613147	G	C	179613147	1	2	22	0	1	0	0	0	0	0	0	0	16732	1368	48	4		4	TTN	2	179613147	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1296	179613147	63586226	1727	6835										
TTN	7273	hgsc.bcm.edu	37	chr2	179613258	179613258	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctggatctcctatatgAgaatacatttgttttagatc	8	6	1	3	rs72648906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179613258A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.S4623S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTATATGAGAATACATTT	0.368													A|||	104	0.0207668	0.0764	0.0043	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.0				p.S4623S		Atlas-SNP	.											.	TTN	18412	.	0			c.T13869G						PASS	.	A	,,,,	244,4160	139.2+/-174.8	7,230,1965	99	109	106		,,13869,,	3.5	1	2	dbSNP_130	106	6,8590	3.7+/-12.6	0,6,4292	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	7,236,6257	CC,CA,AA		0.0698,5.5404,1.9231	,,,,	,,4623/5605,,	179613258	250,12750	2202	4298	6500	SO:0001627	intron_variant	7273	exon46			TATATGAGAATAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4592T>G	2.37:g.179613258A>C		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	202	97	0.480198	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.977;C|0.023	0.023	strong		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179613258	A	C	179613258	1	2	22	0	1	0	0	0	0	0	0	0	16732	291	11	5		5	TTN	2	179613258	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111	179613258	63586115	1728	6836										
TTN	7273	hgsc.bcm.edu	37	chr2	179613962	179613962	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttctttcttaatagtgaCatcactgaaatcatcaacaa	3	8	5	2	rs72648903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179613962C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V4389I			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATAGTGACATCACTGAAA	0.343													C|||	95	0.0189696	0.0703	0.0029	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.0				p.V4389I		Atlas-SNP	.											TTN_ENST00000360870,rectum,carcinoma,+1,1	TTN	18412	1	0			c.G13165A						PASS	.	C	,,ILE/VAL,,	221,4179	123.7+/-161.0	6,209,1985	57	62	60		,,13165,,	3.4	0	2	dbSNP_130	60	6,8586	3.7+/-12.6	0,6,4290	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	6,215,6275	TT,TC,CC		0.0698,5.0227,1.7472	,,,,	,,4389/5605,,	179613962	227,12765	2200	4296	6496	SO:0001627	intron_variant	7273	exon46			TAGTGACATCACT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3888G>A	2.37:g.179613962C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	28	0.337349	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	C	10.23	1.293061	0.23564	0.050227	6.98E-4	ENSG00000155657	ENST00000360870	T	0.60672	0.17	5.23	3.42	0.39159	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.02126	-1.1209	9	0.16420	T	0.52	.	13.5505	0.61730	0.0:0.8613:0.0:0.1387	.	4389	Q8WZ42-6	.	I	4389	ENSP00000354117:V4389I	ENSP00000354117:V4389I	V	-	1	0	TTN	179322207	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.120000	0.31271	0.434000	0.26340	-2.010000	0.00438	GTC	C|0.980;T|0.020	0.020	strong		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179613962	C	T	179613962	1	4	22	0	1	0	0	0	0	0	0	0	16732	478	17	2		2	TTN	2	179613962	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	704	179613962	63585411	1729	6837										
TTN	7273	hgsc.bcm.edu	37	chr2	179614059	179614059	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttcccttcagcctgacaTtgtatgaattcagccctgat	6	12	3	3	rs16866490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179614059T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.Q4356Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCTGACATTGTATGAATT	0.413													T|||	29	0.00579073	0.0204	0.0029	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0				p.Q4356Q		Atlas-SNP	.											.	TTN	18412	.	0			c.A13068G						PASS	.	T	,,,,	78,4328	62.9+/-100.1	0,78,2125	87	93	91		,,13068,,	-3.6	0	2	dbSNP_123	91	2,8594	1.2+/-3.3	0,2,4296	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,80,6421	CC,CT,TT		0.0233,1.7703,0.6153	,,,,	,,4356/5605,,	179614059	80,12922	2203	4298	6501	SO:0001627	intron_variant	7273	exon46			CTGACATTGTATG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3791A>G	2.37:g.179614059T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				T|0.991;C|0.009	0.009	strong		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179614059	T	C	179614059	1	2	22	0	1	0	0	0	0	0	0	0	16732	1490	52	2		2	TTN	2	179614059	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	97	179614059	63585314	1730	6838										
TTN	7273	hgsc.bcm.edu	37	chr2	179621353	179621353	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtggatggaactttgaGatacactttcaaaaacctgc	9	8	1	1	rs57389274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179621353G>A	ENST00000591111.1	-	44	10528				TTN_ENST00000589042.1_Missense_Mutation_p.S3617F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S3446F|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACTTTGAGATACACTTTC	0.383													G|||	98	0.0195687	0.0726	0.0029	5008	,	,		22444	0.0		0.0	False		,,,				2504	0.0				p.S3617F		Atlas-SNP	.											.	TTN	18412	.	0			c.C10850T						PASS	.	G	,,,,PHE/SER	191,3647		6,179,1734	112	113	113		,,,,10337	3.3	0.8	2	dbSNP_129	113	6,8254		0,6,4124	yes	intron,intron,intron,intron,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,155	6,185,5858	AA,AG,GG		0.0726,4.9766,1.6284	,,,,	,,,,3446/27119	179621353	197,11901	1919	4130	6049	SO:0001627	intron_variant	7273	exon46			CTTTGAGATACAC	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.10303+2357C>T	2.37:g.179621353G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	135	58	0.42963	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	37		36	0.016483516483516484	35	0.07113821138211382	1	0.0027624309392265192	0	0.0	0	0.0	G	12.02	1.813296	0.32053	0.049766	7.26E-4	ENSG00000155657	ENST00000342175	T	0.60672	0.17	6.17	3.3	0.37823	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.80722	D	1	B	0.24092	0.097	B	0.23150	0.044	T	0.08249	-1.0731	8	0.87932	D	0	.	12.2661	0.54679	0.0:0.1167:0.6404:0.2429	rs57389274	3446	E7ET18	.	F	3446	ENSP00000340554:S3446F	ENSP00000340554:S3446F	S	-	2	0	TTN	179329598	1.000000	0.71417	0.783000	0.31826	0.997000	0.91878	2.776000	0.47709	0.422000	0.26005	0.655000	0.94253	TCT	G|0.982;A|0.018	0.018	strong		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179621353	G	A	179621353	1	1	22	0	1	0	0	0	0	0	0	0	16732	942	33	2		2	TTN	2	179621353	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7294	179621353	63578020	1731	6839										
TTN	7273	hgsc.bcm.edu	37	chr2	179659912	179659912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggatgcctgagtcttacGcatgagcaatggagacctaa	13	8	1	3	rs16866538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179659912G>A	ENST00000591111.1	-	7	1206	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	TTN_ENST00000589042.1_Missense_Mutation_p.R328C|TTN_ENST00000460472.2_Missense_Mutation_p.R328C|TTN_ENST00000342992.6_Missense_Mutation_p.R328C|TTN_ENST00000360870.5_Missense_Mutation_p.R328C|TTN_ENST00000359218.5_Missense_Mutation_p.R328C|TTN_ENST00000342175.6_Missense_Mutation_p.R328C			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.		R -> C (in dbSNP:rs16866538). {ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:17344846}.		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)			TGAGTCTTACGCATGAGCAAT	0.547													G|||	1182	0.236022	0.1974	0.098	5008	,	,		20301	0.5883		0.0477	False		,,,				2504	0.2168				p.R328C		Atlas-SNP	.											TTN_ENST00000360870,NS,carcinoma,+1,16	TTN	18412	16	0			c.C982T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	689,3717	289.5+/-280.5	54,581,1568	102	93	96		982,982,982,982,982	5.3	0.1	2	dbSNP_123	96	457,8143	136.5+/-193.6	16,425,3859	yes	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	180,180,180,180,180	70,1006,5427	AA,AG,GG		5.314,15.6378,8.8113	benign,benign,benign,benign,benign	328/27119,328/27052,328/5605,328/33424,328/26927	179659912	1146,11860	2203	4300	6503	SO:0001583	missense	7273	exon7			TCTTACGCATGAG	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.982C>T	2.37:g.179659912G>A	ENSP00000465570:p.Arg328Cys	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	52	0.58427	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	37		506	0.2316849816849817	101	0.20528455284552846	34	0.09392265193370165	337	0.5891608391608392	34	0.044854881266490766	G	8.050	0.765811	0.15983	0.156378	0.05314	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72942	-0.7;-0.33;-0.38;-0.39;-0.36	6.17	5.3	0.74995	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.24831	P	0.99252889	B;B;B;B;P	0.41947	0.08;0.08;0.08;0.14;0.766	B;B;B;B;B	0.33121	0.01;0.01;0.01;0.01;0.158	T	0.49670	-0.8915	8	0.87932	D	0	.	11.7311	0.51737	0.1343:0.0:0.8657:0.0	rs16866538;rs52818462;rs57423160;rs16866538	328;328;328;328;328	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	328	ENSP00000343764:R328C;ENSP00000434586:R328C;ENSP00000340554:R328C;ENSP00000352154:R328C;ENSP00000354117:R328C	ENSP00000340554:R328C	R	-	1	0	TTN	179368157	1.000000	0.71417	0.102000	0.21198	0.028000	0.11728	5.683000	0.68189	1.626000	0.50381	0.655000	0.94253	CGT	G|0.845;A|0.155	0.155	strong		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179659912	G	A	179659912	3	1	22	1	0	0	0	0	1	0	0	0	16732	1087	38	1	110430	1	TTN	2	179659912	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38559	179659912	63539461	1732	6840										
TTN	7273	hgsc.bcm.edu	37	chr2	179666982	179666982	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcagtttagcgcggccatCgctaaaggagatctgcacgc	12	12	2	1	rs35683768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:179666982C>A	ENST00000591111.1	-	3	402	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	TTN_ENST00000589042.1_Missense_Mutation_p.D60Y|TTN_ENST00000460472.2_Missense_Mutation_p.D60Y|TTN_ENST00000342992.6_Missense_Mutation_p.D60Y|TTN_ENST00000360870.5_Missense_Mutation_p.D60Y|TTN_ENST00000359218.5_Missense_Mutation_p.D60Y|TTN_ENST00000342175.6_Missense_Mutation_p.D60Y			Q8WZ42	TITIN_HUMAN	titin	32671	Ig-like 1.		D -> Y (in dbSNP:rs35683768). {ECO:0000269|PubMed:17344846}.		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)			GCGCGGCCATCGCTAAAGGAG	0.537													C|||	145	0.0289537	0.0719	0.0202	5008	,	,		8936	0.0159		0.0089	False		,,,				2504	0.0112				p.D60Y		Atlas-SNP	.											.	TTN	18412	.	0			c.G178T						PASS	.	C	TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP	285,4121	157.0+/-190.0	8,269,1926	113	100	104		178,178,178,178,178	5.7	1	2	dbSNP_126	104	51,8549	32.8+/-85.7	0,51,4249	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	160,160,160,160,160	8,320,6175	AA,AC,CC		0.593,6.4685,2.5834	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	60/26927,60/33424,60/5605,60/27052,60/27119	179666982	336,12670	2203	4300	6503	SO:0001583	missense	7273	exon3			GGCCATCGCTAAA	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.178G>T	2.37:g.179666982C>A	ENSP00000465570:p.Asp60Tyr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	124	72	0.580645	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	37		58	0.026556776556776556	38	0.07723577235772358	12	0.03314917127071823	4	0.006993006993006993	4	0.005277044854881266	C	15.72	2.915454	0.52546	0.064685	0.00593	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09512	0.0234	M	0.71036	2.16	0.38200	D	0.940151	D;D;D;D;D	0.76494	0.987;0.992;0.992;0.992;0.999	P;P;P;P;D	0.69654	0.8;0.8;0.886;0.886;0.965	T	0.47686	-0.9098	9	0.87932	D	0	.	19.919	0.97077	0.0:1.0:0.0:0.0	rs35683768	60;60;60;60;60	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	60	ENSP00000343764:D60Y;ENSP00000434586:D60Y;ENSP00000340554:D60Y;ENSP00000352154:D60Y;ENSP00000354117:D60Y	ENSP00000340554:D60Y	D	-	1	0	TTN	179375227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.707000	0.92482	0.655000	0.94253	GAT	C|0.975;A|0.025	0.025	strong		0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179666982	C	A	179666982	3	1	22	1	0	0	0	0	1	0	0	0	16732	884	31	4	111250	4	TTN	2	179666982	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7070	179666982	63532391	1733	6841										
ZNF385B	151126	hgsc.bcm.edu	37	chr2	180311444	180311444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaggagaaatgagccacTttcagagcttgatggctgac	12	7	1	6	rs2271761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:180311444T>C	ENST00000410066.1	-	7	1327	c.724A>G	c.(724-726)Agt>Ggt	p.S242G	ZNF385B_ENST00000336917.5_Missense_Mutation_p.S140G|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.S166G|ZNF385B_ENST00000409692.1_Missense_Mutation_p.S140G	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	242	Interaction with p53/TP53.		S -> G (in dbSNP:rs2271761).		intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AATGAGCCACTTTCAGAGCTT	0.463													T|||	355	0.0708866	0.2012	0.0231	5008	,	,		15950	0.0248		0.0179	False		,,,				2504	0.0307				p.S242G	Colon(155;204 2491 32774 51842)	Atlas-SNP	.											.	ZNF385B	68	.	0			c.A724G						PASS	.	T	GLY/SER,GLY/SER,GLY/SER	738,3668	300.1+/-286.2	62,614,1527	112	124	120		496,418,724	0.4	1	2	dbSNP_100	120	90,8510	50.6+/-110.7	1,88,4211	yes	missense,missense,missense	ZNF385B	NM_001113397.1,NM_001113398.1,NM_152520.4	56,56,56	63,702,5738	CC,CT,TT		1.0465,16.7499,6.3663	benign,benign,benign	166/396,140/370,242/472	180311444	828,12178	2203	4300	6503	SO:0001583	missense	151126	exon7			AGCCACTTTCAGA	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.724A>G	2.37:g.180311444T>C	ENSP00000386845:p.Ser242Gly	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	184	91	0.494565	NM_152520	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	137	0.06272893772893773	97	0.19715447154471544	8	0.022099447513812154	17	0.02972027972027972	15	0.01978891820580475	T	10.77	1.444391	0.25987	0.167499	0.010465	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.32515	1.46;1.45;1.46;1.45;1.47	5.83	0.387	0.16259	.	0.960097	0.08778	N	0.895163	T	0.00012	0.0000	N	0.01705	-0.755	0.53688	P	2.5000000000052758E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41251	-0.9519	9	0.19590	T	0.45	-12.4103	9.1717	0.37086	0.0:0.4936:0.0:0.5064	rs2271761;rs52802430;rs2271761	242;166	Q569K4;Q569K4-2	Z385B_HUMAN;.	G	242;140;166;140;140	ENSP00000386845:S242G;ENSP00000338225:S140G;ENSP00000386379:S166G;ENSP00000386507:S140G;ENSP00000394038:S140G	ENSP00000338225:S140G	S	-	1	0	ZNF385B	180019689	0.521000	0.26258	0.983000	0.44433	0.975000	0.68041	0.643000	0.24750	-0.004000	0.14419	-0.408000	0.06270	AGT	T|0.937;C|0.063	0.063	strong		0.463	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		C	180311444	T	C	180311444	3	2	22	1	0	0	0	0	1	0	0	0	17874	1609	56	3	707	3	ZNF385B	2	180311444	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	644462	180311444	62887929	1734	6842										
ITGA4	3676	hgsc.bcm.edu	37	chr2	182376480	182376480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctgctgatttacaggttTctgcaaagattgggtttttg	11	5	2	2	rs35322532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:182376480T>A	ENST00000397033.2	+	17	2330	c.1900T>A	c.(1900-1902)Tct>Act	p.S634T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	634			S -> T (in dbSNP:rs35322532).		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTTACAGGTTTCTGCAAAGAT	0.338													T|||	86	0.0171725	0.0605	0.0072	5008	,	,		16437	0.0		0.001	False		,,,				2504	0.0				p.S634T		Atlas-SNP	.											.	ITGA4	142	.	0			c.T1900A						PASS	.	T	THR/SER	206,3446		6,194,1626	148	144	145		1900	4.7	1	2	dbSNP_126	145	9,8139		0,9,4065	yes	missense	ITGA4	NM_000885.4	58	6,203,5691	AA,AT,TT		0.1105,5.6407,1.822	possibly-damaging	634/1033	182376480	215,11585	1826	4074	5900	SO:0001583	missense	3676	exon17			CAGGTTTCTGCAA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1900T>A	2.37:g.182376480T>A	ENSP00000380227:p.Ser634Thr	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	149	149	1	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	T	18.59	3.657151	0.67586	0.056407	0.001105	ENSG00000115232	ENST00000397033	T	0.50001	0.76	5.87	4.68	0.58851	Integrin alpha-2 (1);	0.170160	0.53938	D	0.000050	T	0.09949	0.0244	L	0.41710	1.295	0.48185	D	0.999603	D;P	0.54397	0.966;0.906	P;P	0.55999	0.646;0.789	T	0.02385	-1.1167	10	0.42905	T	0.14	.	10.2631	0.43438	0.2642:0.0:0.0:0.7358	rs35322532	456;634	Q59H74;P13612	.;ITA4_HUMAN	T	634	ENSP00000380227:S634T	ENSP00000380227:S634T	S	+	1	0	ITGA4	182084725	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	2.791000	0.47829	1.004000	0.39156	0.529000	0.55759	TCT	T|0.987;A|0.013	0.013	strong		0.338	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182376480	T	A	182376480	3	1	22	1	0	0	0	0	1	0	0	0	7878	1783	62	5	1966	5	ITGA4	2	182376480	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2065036	182376480	60822893	1735	6843										
SSFA2	6744	hgsc.bcm.edu	37	chr2	182780817	182780817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagccccccagagtgaggCgccgcgggtggaggaatgcc	17	12	0	3	rs16867510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:182780817C>T	ENST00000431877.2	+	11	2629	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	SSFA2_ENST00000409001.1_Missense_Mutation_p.A817V|SSFA2_ENST00000320370.7_Missense_Mutation_p.A817V|SSFA2_ENST00000428267.2_Missense_Mutation_p.A664V|SSFA2_ENST00000409136.1_Missense_Mutation_p.A326V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	817			A -> V (in dbSNP:rs16867510).			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)			CAGAGTGAGGCGCCGCGGGTG	0.507													C|||	172	0.034345	0.1263	0.0072	5008	,	,		20029	0.0		0.0	False		,,,				2504	0.0				p.A817V		Atlas-SNP	.											SSFA2,colon,carcinoma,0,1	SSFA2	130	1	0			c.C2450T						scavenged	.	C	VAL/ALA,VAL/ALA	438,3968	210.2+/-230.7	29,380,1794	66	73	71		2450,2450	-9.2	0	2	dbSNP_123	71	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	SSFA2	NM_001130445.1,NM_006751.5	64,64	29,387,6087	TT,TC,CC		0.0814,9.941,3.4215	benign,benign	817/1260,817/1257	182780817	445,12561	2203	4300	6503	SO:0001583	missense	6744	exon11			GTGAGGCGCCGCG	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.2450C>T	2.37:g.182780817C>T	ENSP00000388731:p.Ala817Val	Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	188	92	0.489362	NM_001130445	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	52	0.023809523809523808	51	0.10365853658536585	1	0.0027624309392265192	0	0.0	0	0.0	C	2.957	-0.215497	0.06101	0.09941	8.14E-4	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.14391	2.74;2.51;2.74;2.73;2.52	5.95	-9.19	0.00685	.	1.558920	0.02820	N	0.125417	T	0.00144	0.0004	N	0.03115	-0.41	0.80722	P	0.0	B;B;B;B;B	0.13594	0.003;0.008;0.002;0.002;0.002	B;B;B;B;B	0.06405	0.002;0.001;0.0;0.0;0.0	T	0.27123	-1.0083	9	0.20046	T	0.44	3.6137	7.4998	0.27511	0.0819:0.4875:0.2579:0.1727	rs16867510	664;326;817;817;817	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	V	817;817;817;664;326	ENSP00000388731:A817V;ENSP00000314669:A817V;ENSP00000387319:A817V;ENSP00000409867:A664V;ENSP00000386916:A326V	ENSP00000314669:A817V	A	+	2	0	SSFA2	182489062	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.387000	0.02535	-1.938000	0.01046	-0.793000	0.03317	GCG	C|0.965;T|0.035	0.035	strong		0.507	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		T	182780817	C	T	182780817	3	4	22	1	0	0	0	0	1	0	0	0	15182	768	27	1	2492	1	SSFA2	2	182780817	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	404337	182780817	60418556	1736	6844										
PPP1R1C	151242	hgsc.bcm.edu	37	chr2	182981968	182981968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggccagaatgaatcagcAttccctgaagaagaagaagg	11	7	1	6	rs1882212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:182981968A>G	ENST00000409137.3	+	5	519	c.276A>G	c.(274-276)gcA>gcG	p.A92A	PPP1R1C_ENST00000452904.1_Silent_p.A92A|PPP1R1C_ENST00000409702.1_Silent_p.A92A|PPP1R1C_ENST00000280295.3_Silent_p.A99A|PPP1R1C_ENST00000475249.1_Intron	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	92					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATGAATCAGCATTCCCTGAAG	0.378													a|||	1704	0.340256	0.5983	0.2219	5008	,	,		18159	0.2183		0.2048	False		,,,				2504	0.3405				p.A99A		Atlas-SNP	.											.	PPP1R1C	14	.	0			c.A297G						PASS	.	G		1949,1799		507,935,432	51	51	51		276	-6.1	0.9	2	dbSNP_92	51	1779,6421		206,1367,2527	no	coding-synonymous	PPP1R1C	NM_001080545.1		713,2302,2959	GG,GA,AA		21.6951,47.9989,31.2019		92/110	182981968	3728,8220	1874	4100	5974	SO:0001819	synonymous_variant	151242	exon5			ATCAGCATTCCCT	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.276A>G	2.37:g.182981968A>G		Somatic	307	2	0.00651466		WXS	Illumina HiSeq	Phase_I	321	321	1	NM_001261424	Q5HYJ5|Q8TD54	Silent	SNP	ENST00000409137.3	37	CCDS46468.1																																																																																			A|0.704;G|0.296	0.296	strong		0.378	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		G	182981968	A	G	182981968	2	3	22	1	0	0	0	0	0	0	0	1	12369	204	8	2		2	PPP1R1C	2	182981968	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	201151	182981968	60217405	1737	6845										
FRZB	2487	hgsc.bcm.edu	37	chr2	183702691	183702691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccttaacttttttaccGagtcgatccttccacttctc	3	14	1	0	rs1561367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:183702691G>A	ENST00000295113.4	-	5	1455	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	282	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTTTTTTACCGAGTCGATCCT	0.328													G|||	15	0.00299521	0.0113	0.0	5008	,	,		17089	0.0		0.0	False		,,,				2504	0.0				p.L282L		Atlas-SNP	.											.	FRZB	42	.	0			c.C846T						PASS	.	G		60,4346	57.4+/-93.9	0,60,2143	80	75	77		846	1.7	1	2	dbSNP_88	77	0,8600		0,0,4300	no	coding-synonymous	FRZB	NM_001463.3		0,60,6443	AA,AG,GG		0.0,1.3618,0.4613		282/326	183702691	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	2487	exon5			TTTACCGAGTCGA	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.846C>T	2.37:g.183702691G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_001463	O00181|Q99686	Silent	SNP	ENST00000295113.4	37	CCDS2286.1																																																																																			G|0.997;A|0.003	0.003	strong		0.328	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		A	183702691	G	A	183702691	2	1	22	1	0	0	0	0	0	0	0	1	6065	1045	37	1		1	FRZB	2	183702691	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	720723	183702691	59496682	1738	6846										
FRZB	2487	hgsc.bcm.edu	37	chr2	183703336	183703336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctctttaactttagcccGaatgactgggataaaagaca	7	8	1	2	rs288326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:183703336G>A	ENST00000295113.4	-	4	1207	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	200	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.		R -> W (in dbSNP:rs288326). {ECO:0000269|PubMed:15210948}.		brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ACTTTAGCCCGAATGACTGGG	0.383													G|||	220	0.0439297	0.0091	0.0865	5008	,	,		20003	0.0		0.1243	False		,,,				2504	0.0235				p.R200W		Atlas-SNP	.											.	FRZB	42	.	0			c.C598T						PASS	.	G	TRP/ARG	149,4257	103.4+/-141.9	3,143,2057	85	83	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	598	3.2	1	2	dbSNP_79	84	1007,7593	215.0+/-254.5	80,847,3373	yes	missense	FRZB	NM_001463.3	101	83,990,5430	AA,AG,GG		11.7093,3.3818,8.8882	probably-damaging	200/326	183703336	1156,11850	2203	4300	6503	SO:0001583	missense	2487	exon4			TAGCCCGAATGAC	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.598C>T	2.37:g.183703336G>A	ENSP00000295113:p.Arg200Trp	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	144	79	0.548611	NM_001463	O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	120	0.054945054945054944	2	0.0040650406504065045	36	0.09944751381215469	0	0.0	82	0.10817941952506596	G	18.43	3.621849	0.66787	0.033818	0.117093	ENSG00000162998	ENST00000295113	T	0.24151	1.87	5.05	3.18	0.36537	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.00695	0.0023	L	0.50333	1.59	0.09310	P	0.999999791505	D	0.89917	1.0	D	0.85130	0.997	T	0.05989	-1.0852	9	0.87932	D	0	.	12.7575	0.57343	0.0:0.0:0.5724:0.4275	rs288326;rs52830699;rs288326	200	Q92765	SFRP3_HUMAN	W	200	ENSP00000295113:R200W	ENSP00000295113:R200W	R	-	1	2	FRZB	183411581	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.246000	0.43142	0.483000	0.27608	0.557000	0.71058	CGG	G|0.945;A|0.055	0.055	strong		0.383	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		A	183703336	G	A	183703336	3	1	22	1	0	0	0	0	1	0	0	0	6065	1057	37	1	391	1	FRZB	2	183703336	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	645	183703336	59496037	1739	6847										
NCKAP1	10787	hgsc.bcm.edu	37	chr2	183817154	183817154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagttcagcaacttgtgaTgaaatatgccacataaggct	8	7	1	2	rs111993802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:183817154T>C	ENST00000361354.4	-	23	2952	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	NCKAP1_ENST00000360982.2_Silent_p.S866S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	860					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAACTTGTGATGAAATATGCC	0.313													t|||	50	0.00998403	0.0356	0.0043	5008	,	,		17373	0.0		0.0	False		,,,				2504	0.0				p.S866S		Atlas-SNP	.											.	NCKAP1	105	.	0			c.A2598G						PASS	.	C	,	133,4273	92.5+/-131.2	2,129,2072	68	73	71		2580,2598	3.2	1	2	dbSNP_132	71	6,8580	4.3+/-15.6	0,6,4287	no	coding-synonymous,coding-synonymous	NCKAP1	NM_013436.3,NM_205842.1	,	2,135,6359	CC,CT,TT		0.0699,3.0186,1.0699	,	860/1129,866/1135	183817154	139,12853	2203	4293	6496	SO:0001819	synonymous_variant	10787	exon24			TTGTGATGAAATA	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2580A>G	2.37:g.183817154T>C		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	188	97	0.515957	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																			T|0.987;C|0.013	0.013	strong		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		C	183817154	T	C	183817154	2	2	22	1	0	0	0	0	0	0	0	1	10221	1451	51	2		2	NCKAP1	2	183817154	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	113818	183817154	59382219	1740	6848										
NCKAP1	10787	hgsc.bcm.edu	37	chr2	183847598	183847598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcatgttatctgcatgacGaagtagccagatgatttcat	10	7	2	3	rs557066776		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:183847598G>A	ENST00000361354.4	-	12	1531	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R393C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	387					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTGCATGACGAAGTAGCCAG	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.0				p.R393C		Atlas-SNP	.											NCKAP1,colon,carcinoma,+1,1	NCKAP1	105	1	0			c.C1177T						scavenged	.						46	46	46					2																	183847598		2203	4300	6503	SO:0001583	missense	10787	exon13			CATGACGAAGTAG	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1159C>T	2.37:g.183847598G>A	ENSP00000355348:p.Arg387Cys	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	213	4	0.0187793	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674779	0.88445	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.39056	1.1;1.1	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74850	-0.3524	10	0.52906	T	0.07	-10.267	18.95	0.92638	0.0:0.0:1.0:0.0	.	387;393	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	387;393	ENSP00000355348:R387C;ENSP00000354251:R393C	ENSP00000354251:R393C	R	-	1	0	NCKAP1	183555843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.668000	0.83897	2.485000	0.83878	0.655000	0.94253	CGT	.	.	none		0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		A	183847598	G	A	183847598	3	1	22	1	0	0	0	0	1	0	0	0	10221	1058	37	1	2307	1	NCKAP1	2	183847598	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30444	183847598	59351775	1741	6849										
NUP35	129401	hgsc.bcm.edu	37	chr2	183993085	183993085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcccagttcttacctggAtttttaatgggggatttgcc	10	8	1	0	rs61743390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:183993085A>G	ENST00000295119.4	+	2	214	c.111A>G	c.(109-111)ggA>ggG	p.G37G	NUP35_ENST00000409798.1_Silent_p.G20G|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TCTTACCTGGATTTTTAATGG	0.438													A|||	44	0.00878594	0.0333	0.0	5008	,	,		14995	0.0		0.0	False		,,,				2504	0.0				p.G37G		Atlas-SNP	.											.	NUP35	28	.	0			c.A111G						PASS	.	A		148,4258	101.6+/-140.2	0,148,2055	80	78	79		111	2.7	1	2	dbSNP_129	79	2,8598		0,2,4298	no	coding-synonymous	NUP35	NM_138285.3		0,150,6353	GG,GA,AA		0.0233,3.3591,1.1533		37/327	183993085	150,12856	2203	4300	6503	SO:0001819	synonymous_variant	129401	exon2			ACCTGGATTTTTA	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.111A>G	2.37:g.183993085A>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_138285	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Silent	SNP	ENST00000295119.4	37	CCDS2290.1																																																																																			A|0.989;G|0.011	0.011	strong		0.438	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		G	183993085	A	G	183993085	2	3	22	1	0	0	0	0	0	0	0	1	10763	320	12	2		2	NUP35	2	183993085	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	145487	183993085	59206288	1742	6850										
ITGAV	3685	hgsc.bcm.edu	37	chr2	187490232	187490232	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtaccattggagaactgaGatgaaacaggagcgagagcc	13	7	0	4	rs114767222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:187490232G>A	ENST00000261023.3	+	4	715	c.441G>A	c.(439-441)gaG>gaA	p.E147E	ITGAV_ENST00000433736.2_Silent_p.E101E|ITGAV_ENST00000374907.3_Silent_p.E147E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	147					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)	GGAGAACTGAGATGAAACAGG	0.403													G|||	50	0.00998403	0.034	0.0072	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.0				p.E147E	Melanoma(58;108 1995 6081)	Atlas-SNP	.											.	ITGAV	124	.	0			c.G441A						PASS	.	G	,,	118,4288	88.7+/-127.4	2,114,2087	126	115	118		303,441,441	0.5	0.3	2	dbSNP_132	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	,,	2,114,6387	AA,AG,GG		0.0,2.6782,0.9073	,,	101/1003,147/1013,147/1049	187490232	118,12888	2203	4300	6503	SO:0001819	synonymous_variant	3685	exon4			AACTGAGATGAAA		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.441G>A	2.37:g.187490232G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	85	33	0.388235	NM_001145000	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																			G|0.992;A|0.008	0.008	strong		0.403	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187490232	G	A	187490232	2	1	22	1	0	0	0	0	0	0	0	1	7888	933	33	2		2	ITGAV	2	187490232	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3497147	187490232	55709141	1743	6851										
CALCRL	10203	hgsc.bcm.edu	37	chr2	188250275	188250275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatatttttatgcttaccatAaaaaaaggcaagagaaccag	6	6	0	1	rs13391909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:188250275A>T	ENST00000409998.1	-	5	829	c.48T>A	c.(46-48)ttT>ttA	p.F16L	CALCRL_ENST00000410068.1_Missense_Mutation_p.F16L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F16L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	16			F -> L (in dbSNP:rs13391909).		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGCTTACCATAAAAAAAGGCA	0.274													A|||	207	0.0413339	0.1483	0.0159	5008	,	,		15603	0.0		0.0	False		,,,				2504	0.0				p.F16L		Atlas-SNP	.											.	CALCRL	73	.	0			c.T48A						PASS	.	A	LEU/PHE	527,3865		26,475,1695	30	33	32		48	-3.4	0	2	dbSNP_121	32	8,8520		0,8,4256	yes	missense	CALCRL	NM_005795.4	22	26,483,5951	TT,TA,AA		0.0938,11.9991,4.1409	benign	16/462	188250275	535,12385	2196	4264	6460	SO:0001583	missense	10203	exon3			TACCATAAAAAAA	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.48T>A	2.37:g.188250275A>T	ENSP00000386972:p.Phe16Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_001271751	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	96	0.04395604395604396	92	0.18699186991869918	4	0.011049723756906077	0	0.0	0	0.0	A	0.734	-0.779016	0.02929	0.119991	9.38E-4	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403;ENST00000410102	T;T;T;T;T	0.59906	1.04;1.04;1.04;1.57;0.23	5.81	-3.39	0.04868	.	1.007640	0.07990	N	0.986908	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07501	-1.0769	9	0.09843	T	0.71	.	4.5787	0.12248	0.3334:0.0:0.1511:0.5155	rs13391909;rs52830213;rs13391909	16	Q16602	CALRL_HUMAN	L	16	ENSP00000376177:F16L;ENSP00000386972:F16L;ENSP00000387190:F16L;ENSP00000415626:F16L;ENSP00000386599:F16L	ENSP00000376177:F16L	F	-	3	2	CALCRL	187958520	0.102000	0.21896	0.017000	0.16124	0.202000	0.24057	0.018000	0.13422	-0.859000	0.04105	-0.468000	0.05107	TTT	A|0.954;T|0.046	0.046	strong		0.274	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188250275	A	T	188250275	3	4	22	1	0	0	0	0	1	0	0	0	2580	359	13	5	1385	5	CALCRL	2	188250275	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	760043	188250275	54949098	1744	6852										
DIRC1	116093	hgsc.bcm.edu	37	chr2	189599373	189599373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatattttccaccccctcAatgagttaagacactttagc	4	11	1	2	rs58846152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:189599373A>G	ENST00000308100.4	-	2	545	c.275T>C	c.(274-276)tTg>tCg	p.L92S	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	92			L -> S (in dbSNP:rs58846152).							large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CCACCCCCTCAATGAGTTAAG	0.383													A|||	167	0.0333466	0.121	0.0086	5008	,	,		18397	0.0		0.001	False		,,,				2504	0.0				p.L92S		Atlas-SNP	.											.	DIRC1	13	.	0			c.T275C						PASS	.	A	SER/LEU	350,4056	180.8+/-209.0	13,324,1866	155	160	158		275	1.2	0	2	dbSNP_129	158	2,8598	1.2+/-3.3	0,2,4298	yes	missense	DIRC1	NM_052952.2	145	13,326,6164	GG,GA,AA		0.0233,7.9437,2.7064	benign	92/105	189599373	352,12654	2203	4300	6503	SO:0001583	missense	116093	exon2			CCCCTCAATGAGT	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.275T>C	2.37:g.189599373A>G	ENSP00000307860:p.Leu92Ser	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	186	79	0.424731	NM_052952	Q08AK1	Missense_Mutation	SNP	ENST00000308100.4	37	CCDS2296.1	53	0.024267399267399268	49	0.09959349593495935	4	0.011049723756906077	0	0.0	0	0.0	A	1.548	-0.540046	0.04053	0.079437	2.33E-4	ENSG00000174325	ENST00000308100	T	0.42131	0.98	2.38	1.21	0.21127	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.11251	-1.0595	9	0.87932	D	0	.	4.1545	0.10254	0.8279:0.0:0.1721:0.0	rs58846152	92	Q969H9	DIRC1_HUMAN	S	92	ENSP00000307860:L92S	ENSP00000307860:L92S	L	-	2	0	DIRC1	189307618	0.031000	0.19500	0.003000	0.11579	0.015000	0.08874	0.917000	0.28665	0.329000	0.23460	0.533000	0.62120	TTG	A|0.976;G|0.024	0.024	strong		0.383	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		G	189599373	A	G	189599373	3	3	22	1	0	0	0	0	1	0	0	0	4533	131	5	2	43	2	DIRC1	2	189599373	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1349098	189599373	53600000	1745	6853										
SLC40A1	30061	hgsc.bcm.edu	37	chr2	190437572	190437572	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatctcattgagaacttacGagaacccatccatggtacat	7	10	1	2	rs11568344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:190437572G>A	ENST00000261024.2	-	4	813	c.387C>T	c.(385-387)ctC>ctT	p.L129L	SLC40A1_ENST00000418714.1_5'Flank	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	129					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGAACTTACGAGAACCCATC	0.383													G|||	164	0.0327476	0.118	0.0115	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0				p.L129L		Atlas-SNP	.											.	SLC40A1	51	.	0			c.C387T						PASS	.	G		492,3914	228.5+/-243.3	22,448,1733	77	73	74		387	0.8	1	2	dbSNP_121	74	4,8596	2.2+/-6.3	0,4,4296	yes	coding-synonymous-near-splice	SLC40A1	NM_014585.5		22,452,6029	AA,AG,GG		0.0465,11.1666,3.8136		129/572	190437572	496,12510	2203	4300	6503	SO:0001630	splice_region_variant	30061	exon4			ACTTACGAGAACC	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.387+1C>T	2.37:g.190437572G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	196	98	0.5	NM_014585	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	CCDS2299.1																																																																																			G|0.960;A|0.040	0.040	strong		0.383	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		Silent	A	190437572	G	A	190437572	5	1	22	1	0	0	0	0	0	0	1	0	14628	1072	37	1	1348	1	SLC40A1	2	190437572	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	838199	190437572	52761801	1746	6854										
ASNSD1	54529	hgsc.bcm.edu	37	chr2	190531615	190531615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgttgccacaagctgcaTtggagactcattgcagtaat	10	8	1	2	rs3828267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:190531615T>C	ENST00000260952.4	+	4	1170	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	253					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ACAAGCTGCATTGGAGACTCA	0.383													T|||	750	0.14976	0.3525	0.1066	5008	,	,		20913	0.12		0.0447	False		,,,				2504	0.045				p.L253L		Atlas-SNP	.											.	ASNSD1	63	.	0			c.T757C						PASS	.	T		1400,2998	412.4+/-336.1	224,952,1023	94	98	97		757	-8.7	0	2	dbSNP_107	97	393,8205	123.6+/-182.4	6,381,3912	yes	coding-synonymous	ASNSD1	NM_019048.2		230,1333,4935	CC,CT,TT		4.5708,31.8327,13.7966		253/644	190531615	1793,11203	2199	4299	6498	SO:0001819	synonymous_variant	54529	exon4			GCTGCATTGGAGA	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.757T>C	2.37:g.190531615T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_019048	D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	CCDS2300.1																																																																																			T|0.870;C|0.130	0.130	strong		0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		C	190531615	T	C	190531615	2	2	22	1	0	0	0	0	0	0	0	1	1049	1490	52	2		2	ASNSD1	2	190531615	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	94043	190531615	52667758	1747	6855										
MSTN	2660	hgsc.bcm.edu	37	chr2	190925077	190925077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatatccatagttgggccTttactactttattgtattgt	6	6	0	0	rs1805086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:190925077T>C	ENST00000260950.4	-	2	590	c.458A>G	c.(457-459)aAg>aGg	p.K153R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	153			K -> R (in dbSNP:rs1805086). {ECO:0000269|PubMed:17186467}.		cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TAGTTGGGCCTTTACTACTTT	0.353													T|||	356	0.0710863	0.2194	0.0504	5008	,	,		17180	0.001		0.0288	False		,,,				2504	0.001				p.K153R		Atlas-SNP	.											.	MSTN	46	.	0			c.A458G						PASS	.	T	ARG/LYS	906,3500	324.2+/-298.5	99,708,1396	85	83	83		458	5.8	1	2	dbSNP_89	83	141,8457	66.3+/-128.7	2,137,4160	yes	missense	MSTN	NM_005259.2	26	101,845,5556	CC,CT,TT		1.6399,20.5629,8.0514	probably-damaging	153/376	190925077	1047,11957	2203	4299	6502	SO:0001583	missense	2660	exon2			TGGGCCTTTACTA	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.458A>G	2.37:g.190925077T>C	ENSP00000260950:p.Lys153Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	139	77	0.553957	NM_005259	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	134	0.06135531135531135	99	0.20121951219512196	19	0.052486187845303865	0	0.0	16	0.021108179419525065	T	8.860	0.946745	0.18356	0.205629	0.016399	ENSG00000138379	ENST00000260950	T	0.64991	-0.13	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.092591	0.64402	D	0.000001	T	0.00039	0.0001	N	0.20530	0.585	0.27314	P	0.9572201	B	0.06786	0.001	B	0.13407	0.009	T	0.05767	-1.0865	9	0.13853	T	0.58	-7.3207	16.0697	0.80914	0.0:0.0:0.0:1.0	rs1805086;rs52812921;rs1805086	153	O14793	GDF8_HUMAN	R	153	ENSP00000260950:K153R	ENSP00000260950:K153R	K	-	2	0	MSTN	190633322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.322000	0.52007	2.194000	0.70268	0.528000	0.53228	AAG	T|0.932;C|0.068	0.068	strong		0.353	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		C	190925077	T	C	190925077	3	2	22	1	0	0	0	0	1	0	0	0	9893	1609	56	3	677	3	MSTN	2	190925077	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	393462	190925077	52274296	1748	6856										
MYO1B	4430	hgsc.bcm.edu	37	chr2	192256874	192256874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatgaattagaaattcccGtggaagaatactcctttggt	8	6	0	3	rs200814325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:192256874G>A	ENST00000392318.3	+	19	2270	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	MYO1B_ENST00000392316.1_Missense_Mutation_p.V675M|MYO1B_ENST00000304164.4_Missense_Mutation_p.V675M|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000339514.4_Missense_Mutation_p.V675M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	675	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V675M(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAAATTCCCGTGGAAGAATA	0.323													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0				p.V675M		Atlas-SNP	.											MYO1B_ENST00000392318,rectum,carcinoma,-1,3	MYO1B	160	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.G2023A						scavenged	.	G	MET/VAL,MET/VAL,MET/VAL	4,4402	6.2+/-15.9	0,4,2199	66	73	70		2023,2023,2023	2.6	1	2		70	0,8598		0,0,4299	no	missense,missense,missense	MYO1B	NM_001130158.1,NM_001161819.1,NM_012223.3	21,21,21	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	675/1137,675/1137,675/1079	192256874	4,13000	2203	4299	6502	SO:0001583	missense	4430	exon19			ATTCCCGTGGAAG	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2023G>A	2.37:g.192256874G>A	ENSP00000376132:p.Val675Met	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	183	3	0.0163934	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936012	0.34189	9.08E-4	0.0	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.71	2.61	0.31194	Myosin head, motor domain (2);	0.411684	0.25894	N	0.027618	T	0.53722	0.1814	L	0.27053	0.805	0.39497	D	0.96813	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.55761	-0.8090	10	0.62326	D	0.03	.	7.2207	0.25985	0.068:0.1232:0.6813:0.1275	.	675;675	O43795;O43795-2	MYO1B_HUMAN;.	M	675	ENSP00000341903:V675M;ENSP00000376132:V675M;ENSP00000306382:V675M;ENSP00000376130:V675M	ENSP00000306382:V675M	V	+	1	0	MYO1B	191965119	0.032000	0.19561	0.983000	0.44433	0.875000	0.50365	0.265000	0.18515	1.422000	0.47177	0.557000	0.71058	GTG	G|0.999;A|0.001	0.001	weak		0.323	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192256874	G	A	192256874	3	1	22	1	0	0	0	0	1	0	0	0	10069	1145	40	1	2093	1	MYO1B	2	192256874	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1331797	192256874	50942499	1749	6857										
TMEFF2	23671	hgsc.bcm.edu	37	chr2	192922499	192922499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtttctccagagccttcatGgactgtaggacagaaaaaca	9	9	2	2	rs61744272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:192922499G>A	ENST00000272771.5	-	5	1626	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	TMEFF2_ENST00000392314.1_Missense_Mutation_p.H148Y	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	148						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GAGCCTTCATGGACTGTAGGA	0.403													G|||	92	0.0183706	0.0635	0.0086	5008	,	,		18753	0.0		0.002	False		,,,				2504	0.0				p.H148Y	Pancreas(50;1277 1381 28487 47072)	Atlas-SNP	.											.	TMEFF2	54	.	0			c.C442T						PASS	.	G	TYR/HIS	282,4124	158.5+/-191.2	10,262,1931	95	86	89		442	4	0.9	2	dbSNP_129	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEFF2	NM_016192.2	83	10,264,6229	AA,AG,GG		0.0233,6.4004,2.1836	possibly-damaging	148/375	192922499	284,12722	2203	4300	6503	SO:0001583	missense	23671	exon5			CTTCATGGACTGT	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.442C>T	2.37:g.192922499G>A	ENSP00000272771:p.His148Tyr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	128	68	0.53125	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	31	0.014194139194139194	27	0.054878048780487805	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	G	1.594	-0.528334	0.04112	0.064004	2.33E-4	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.58797	0.31;0.31	4.93	3.99	0.46301	.	0.338199	0.31335	N	0.007834	T	0.03827	0.0108	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03043	-1.1079	10	0.15499	T	0.54	-18.1134	13.1246	0.59346	0.0:0.0:0.78:0.2199	.	148	Q9UIK5	TEFF2_HUMAN	Y	148	ENSP00000376128:H148Y;ENSP00000272771:H148Y	ENSP00000272771:H148Y	H	-	1	0	TMEFF2	192630744	1.000000	0.71417	0.949000	0.38748	0.824000	0.46624	3.823000	0.55715	2.713000	0.92767	0.655000	0.94253	CAT	G|0.982;A|0.018	0.018	strong		0.403	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		A	192922499	G	A	192922499	3	1	22	1	0	0	0	0	1	0	0	0	16011	1348	47	2	706	2	TMEFF2	2	192922499	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	665625	192922499	50276874	1750	6858										
HECW2	57520	hgsc.bcm.edu	37	chr2	197087061	197087061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaggtcactcaggtcacaTagactaagatgacaaacaga	8	9	4	4	rs16847486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:197087061T>C	ENST00000260983.3	-	24	4202	c.4020A>G	c.(4018-4020)ctA>ctG	p.L1340L	HECW2_ENST00000409111.1_Silent_p.L984L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1340	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGGTCACATAGACTAAGAT	0.388													T|||	140	0.0279553	0.0976	0.0159	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0				p.L1340L		Atlas-SNP	.											.	HECW2	239	.	0			c.A4020G						PASS	.	T		443,3963	214.8+/-234.0	23,397,1783	120	104	110		4020	-1.3	0.8	2	dbSNP_123	110	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	HECW2	NM_020760.1		23,407,6073	CC,CT,TT		0.1163,10.0545,3.483		1340/1573	197087061	453,12553	2203	4300	6503	SO:0001819	synonymous_variant	57520	exon24			GTCACATAGACTA	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4020A>G	2.37:g.197087061T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	93	55	0.591398	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																			T|0.965;C|0.035	0.035	strong		0.388	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		C	197087061	T	C	197087061	2	2	22	1	0	0	0	0	0	0	0	1	7043	1393	49	2		2	HECW2	2	197087061	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4164562	197087061	46112312	1751	6859										
HECW2	57520	hgsc.bcm.edu	37	chr2	197208397	197208397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacgttccatgaaatagggCccaggctcaattctccatac	7	12	2	1	rs61741962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:197208397C>T	ENST00000260983.3	-	3	566	c.384G>A	c.(382-384)ggG>ggA	p.G128G	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	128					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGAAATAGGGCCCAGGCTCAA	0.363													C|||	30	0.00599042	0.0	0.0086	5008	,	,		16772	0.0		0.0219	False		,,,				2504	0.002				p.G128G		Atlas-SNP	.											.	HECW2	239	.	0			c.G384A						PASS	.	C		18,4388	24.3+/-50.5	0,18,2185	182	198	193		384	4.2	1	2	dbSNP_129	193	190,8410	83.4+/-145.9	1,188,4111	yes	coding-synonymous	HECW2	NM_020760.1		1,206,6296	TT,TC,CC		2.2093,0.4085,1.5993		128/1573	197208397	208,12798	2203	4300	6503	SO:0001819	synonymous_variant	57520	exon3			ATAGGGCCCAGGC	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.384G>A	2.37:g.197208397C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	100	50	0.5	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																			C|0.984;T|0.016	0.016	strong		0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197208397	C	T	197208397	2	4	22	1	0	0	0	0	0	0	0	1	7043	726	26	2		2	HECW2	2	197208397	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121336	197208397	45990976	1752	6860										
CCDC150	284992	hgsc.bcm.edu	37	chr2	197521750	197521750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgaagctgttgcatctcGaagttatgaatttgcgccag	10	9	1	2	rs34133636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:197521750G>A	ENST00000389175.4	+	4	601	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CCDC150_ENST00000472405.2_Missense_Mutation_p.E53K|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	156			E -> K (in dbSNP:rs34133636).					p.E156K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTGCATCTCGAAGTTATGAA	0.478													G|||	528	0.105431	0.1929	0.0634	5008	,	,		21617	0.0238		0.0596	False		,,,				2504	0.1483				p.E156K		Atlas-SNP	.											CCDC150,NS,carcinoma,0,1	CCDC150	96	1	1	Substitution - Missense(1)	stomach(1)	c.G466A						PASS	.	G	LYS/GLU	629,3301		53,523,1389	75	76	76		466	3.9	1	2	dbSNP_126	76	443,7867		15,413,3727	yes	missense	CCDC150	NM_001080539.1	56	68,936,5116	AA,AG,GG		5.3309,16.0051,8.7582	probably-damaging	156/1102	197521750	1072,11168	1965	4155	6120	SO:0001583	missense	284992	exon4			CATCTCGAAGTTA		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.466G>A	2.37:g.197521750G>A	ENSP00000373827:p.Glu156Lys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	133	71	0.533835	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	164	0.07509157509157509	73	0.1483739837398374	27	0.07458563535911603	18	0.03146853146853147	46	0.06068601583113457	G	13.24	2.178777	0.38511	0.160051	0.053309	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.30182	1.54;1.54	4.78	3.88	0.44766	.	0.000000	0.64402	D	0.000002	T	0.00241	0.0007	M	0.62723	1.935	0.09310	P	0.9999999999999987	D;D	0.89917	0.975;1.0	P;D	0.80764	0.557;0.994	T	0.04752	-1.0929	9	0.22109	T	0.4	-6.3836	12.594	0.56459	0.0:0.1684:0.8315:0.0	rs34133636;rs60151852	156;156	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	156;156;53	ENSP00000373827:E156K;ENSP00000441149:E53K	ENSP00000373827:E156K	E	+	1	0	CCDC150	197229995	1.000000	0.71417	0.964000	0.40570	0.014000	0.08584	4.205000	0.58466	1.199000	0.43173	0.655000	0.94253	GAA	G|0.924;A|0.076	0.076	strong		0.478	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		A	197521750	G	A	197521750	3	1	22	1	0	0	0	0	1	0	0	0	2785	1059	37	1	480	1	CCDC150	2	197521750	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313353	197521750	45677623	1753	6861										
GTF3C3	9330	hgsc.bcm.edu	37	chr2	197662526	197662526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataattttaacataccttcaTtgacatctttgtcttgggat	5	7	3	1	rs11559078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:197662526T>C	ENST00000263956.3	-	2	298	c.209A>G	c.(208-210)aAt>aGt	p.N70S	GTF3C3_ENST00000409364.3_Missense_Mutation_p.N70S	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	70			N -> S (in dbSNP:rs11559078). {ECO:0000269|PubMed:15489334}.		5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.N70S(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATACCTTCATTGACATCTTT	0.353													T|||	578	0.115415	0.1944	0.0735	5008	,	,		20174	0.0327		0.0775	False		,,,				2504	0.1626				p.N70S		Atlas-SNP	.											GTF3C3,NS,carcinoma,0,1	GTF3C3	96	1	1	Substitution - Missense(1)	stomach(1)	c.A209G						PASS	.	T	SER/ASN,SER/ASN	750,3656	306.9+/-289.7	68,614,1521	137	132	134		209,209	0.4	0.1	2	dbSNP_120	134	603,7997	158.9+/-212.3	27,549,3724	yes	missense,missense	GTF3C3	NM_001206774.1,NM_012086.3	46,46	95,1163,5245	CC,CT,TT		7.0116,17.0222,10.4029	benign,benign	70/414,70/887	197662526	1353,11653	2203	4300	6503	SO:0001583	missense	9330	exon2			CCTTCATTGACAT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.209A>G	2.37:g.197662526T>C	ENSP00000263956:p.Asn70Ser	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	156	70	0.448718	NM_001206774	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	188	0.08608058608058608	72	0.14634146341463414	32	0.08839779005524862	24	0.04195804195804196	60	0.079155672823219	T	9.807	1.182136	0.21787	0.170222	0.070116	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.40476	1.03;1.05	5.42	0.442	0.16582	.	0.494468	0.21745	N	0.069768	T	0.00039	0.0001	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.23048	-1.0199	9	0.05620	T	0.96	-2.65	5.0385	0.14447	0.0:0.3307:0.1551:0.5142	rs11559078;rs17384126;rs17854287;rs52816855;rs17384126	70;70	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	S	70	ENSP00000263956:N70S;ENSP00000386465:N70S	ENSP00000263956:N70S	N	-	2	0	GTF3C3	197370771	0.056000	0.20664	0.132000	0.22025	0.885000	0.51271	-0.003000	0.12901	-0.055000	0.13244	-0.263000	0.10527	AAT	T|0.737;G|0.020;C|0.079;N|0.000;A|0.164	0.079	strong		0.353	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			C	197662526	T	C	197662526	3	2	22	1	0	0	0	0	1	0	0	0	6874	1493	52	2	2519	2	GTF3C3	2	197662526	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	140776	197662526	45536847	1754	6862										
SF3B1	23451	hgsc.bcm.edu	37	chr2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcactgatggtccgaacttTctgctgctcatccacaagac	8	13	2	2	rs559063155		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001				p.K700E		Atlas-SNP	.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	SF3B1,NS,haematopoietic_neoplasm,0,263	SF3B1	1038	263	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)	c.A2098G						PASS	.																																			SO:0001583	missense	23451	exon15			GAACTTTCTGCTG	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	214	70	0.327103	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	.	.	none		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198266834	T	C	198266834	3	2	22	1	0	0	0	0	1	0	0	0	14149	1792	62	2	1860	2	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	604308	198266834	44932539	1755	6863										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1_ENST00000409468.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	310	4	0.0129032		WXS	Illumina HiSeq	Phase_I	352	6	0.0170455	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	22	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96700	198363534	44835839	1756	6864										
SATB2	23314	hgsc.bcm.edu	37	chr2	200233357	200233357	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgtactttttataccatCtcccaaactcctggcacttg	4	13	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:200233357C>T	ENST00000417098.1	-	6	1487	c.671G>A	c.(670-672)aGa>aAa	p.R224K	SATB2_ENST00000443023.1_Missense_Mutation_p.R165K|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.R224K|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Missense_Mutation_p.R224K	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	224					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTATACCATCTCCCAAACTC	0.323																																					p.R224K	Colon(30;262 767 11040 24421 36230)	Atlas-SNP	.											SATB2,colon,carcinoma,+1,1	SATB2	134	1	0			c.G671A						scavenged	.						102	99	100					2																	200233357		2203	4300	6503	SO:0001583	missense	23314	exon7			TACCATCTCCCAA	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.671G>A	2.37:g.200233357C>T	ENSP00000401112:p.Arg224Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	108	2	0.0185185	NM_015265	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573914	0.96553	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	L	0.34521	1.04	0.52099	D	0.999948	P	0.47106	0.89	P	0.49887	0.625	T	0.77115	-0.2707	10	0.44086	T	0.13	-12.6975	20.1518	0.98089	0.0:1.0:0.0:0.0	.	224	Q9UPW6	SATB2_HUMAN	K	224;165;224;224	ENSP00000401112:R224K;ENSP00000388764:R165K;ENSP00000260926:R224K;ENSP00000405420:R224K	ENSP00000260926:R224K	R	-	2	0	SATB2	199941602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.769000	0.95229	0.491000	0.48974	AGA	.	.	none		0.323	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		T	200233357	C	T	200233357	3	4	22	1	0	0	0	0	1	0	0	0	13854	913	32	2	1554	2	SATB2	2	200233357	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1869823	200233357	42966016	1757	6865										
KCTD18	130535	hgsc.bcm.edu	37	chr2	201355106	201355106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccccgtgcccaccaggGccgtggctctggaaggtgca	15	15	1	0	rs13018579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:201355106G>A	ENST00000359878.3	-	7	1508	c.998C>T	c.(997-999)gCc>gTc	p.A333V	KCTD18_ENST00000409157.1_Missense_Mutation_p.A333V|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	333			A -> V (in dbSNP:rs13018579). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCCCACCAGGGCCGTGGCTCT	0.642													G|||	497	0.0992412	0.0393	0.1427	5008	,	,		16517	0.002		0.2336	False		,,,				2504	0.1115				p.A333V		Atlas-SNP	.											.	KCTD18	44	.	0			c.C998T						PASS	.	G	VAL/ALA	299,4107	160.3+/-192.7	8,283,1912	44	48	47		998	2.4	0	2	dbSNP_121	47	1952,6648	341.4+/-324.0	238,1476,2586	yes	missense	KCTD18	NM_152387.2	64	246,1759,4498	AA,AG,GG		22.6977,6.7862,17.3074	benign	333/427	201355106	2251,10755	2203	4300	6503	SO:0001583	missense	130535	exon7			ACCAGGGCCGTGG	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.998C>T	2.37:g.201355106G>A	ENSP00000352941:p.Ala333Val	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	104	51	0.490385	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	266	0.12179487179487179	27	0.054878048780487805	65	0.17955801104972377	1	0.0017482517482517483	173	0.22823218997361477	G	11.88	1.770629	0.31320	0.067862	0.226977	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35236	1.32;1.32	4.22	2.38	0.29361	.	1.417830	0.04433	N	0.369665	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.17038	0.02	B	0.17433	0.018	T	0.20505	-1.0273	9	0.05959	T	0.93	0.2009	6.6967	0.23203	0.0926:0.0:0.7314:0.176	rs13018579;rs17532385;rs57796327;rs13018579	333	Q6PI47	KCD18_HUMAN	V	333	ENSP00000352941:A333V;ENSP00000386751:A333V	ENSP00000352941:A333V	A	-	2	0	KCTD18	201063351	0.072000	0.21174	0.000000	0.03702	0.004000	0.04260	2.880000	0.48530	0.404000	0.25506	0.655000	0.94253	GCC	G|0.849;A|0.151	0.151	strong		0.642	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		A	201355106	G	A	201355106	3	1	22	1	0	0	0	0	1	0	0	0	8105	1203	42	2	286	2	KCTD18	2	201355106	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1121749	201355106	41844267	1758	6866										
CFLAR	8837	hgsc.bcm.edu	37	chr2	202025375	202025375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctgcatcacatcaggagGatgttcatgggagattcatg	11	10	4	1	rs33914895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:202025375G>A	ENST00000309955.3	+	9	1529	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	CFLAR_ENST00000340870.5_Silent_p.R338R|CFLAR_ENST00000457277.1_Silent_p.R338R|CFLAR_ENST00000479953.2_Silent_p.R242R|CFLAR_ENST00000423241.2_Silent_p.R338R|CFLAR_ENST00000341582.6_Silent_p.R303R|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Silent_p.R242R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	338	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|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						ACATCAGGAGGATGTTCATGG	0.532													G|||	35	0.00698882	0.0008	0.013	5008	,	,		21739	0.001		0.0229	False		,,,				2504	0.001				p.R338R	Pancreas(16;548 657 22190 32864 42338)	Atlas-SNP	.											.	CFLAR	37	.	0			c.G1014A						PASS	.	G	,,,,,,	25,4381	32.6+/-62.9	1,23,2179	107	94	98		1014,279,909,726,726,726,1014	2.8	1	2	dbSNP_126	98	209,8391	88.9+/-151.2	4,201,4095	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CFLAR	NM_001127183.2,NM_001202515.1,NM_001202516.1,NM_001202517.1,NM_001202518.1,NM_001202519.1,NM_003879.5	,,,,,,	5,224,6274	AA,AG,GG		2.4302,0.5674,1.7992	,,,,,,	338/481,93/236,303/446,242/385,242/367,242/367,338/481	202025375	234,12772	2203	4300	6503	SO:0001819	synonymous_variant	8837	exon9			CAGGAGGATGTTC	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.1014G>A	2.37:g.202025375G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	127	62	0.488189	NM_003879	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	CCDS2337.1																																																																																			G|0.985;A|0.015	0.015	strong		0.532	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		A	202025375	G	A	202025375	2	1	22	1	0	0	0	0	0	0	0	1	3292	1165	41	2		2	CFLAR	2	202025375	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	670269	202025375	41173998	1759	6867										
CASP10	843	hgsc.bcm.edu	37	chr2	202074098	202074098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaagagatacagccttccGtatccatcgaagcagatgct	10	10	0	3	rs13010627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:202074098G>A	ENST00000272879.5	+	9	1412	c.1228G>A	c.(1228-1230)Gta>Ata	p.V410I	CASP10_ENST00000286186.6_Missense_Mutation_p.V410I|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.V367I|CASP10_ENST00000448480.1_Missense_Mutation_p.V367I|CASP10_ENST00000313728.7_Missense_Mutation_p.V343I	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	410			V -> I (does not interfere with apoptosis in a dominant negative manner; dbSNP:rs13010627). {ECO:0000269|PubMed:10187817, ECO:0000269|PubMed:10412980, ECO:0000269|PubMed:16446975}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACAGCCTTCCGTATCCATCGA	0.532													G|||	96	0.0191693	0.0023	0.0389	5008	,	,		17299	0.001		0.0616	False		,,,				2504	0.0031				p.V410I		Atlas-SNP	.											.	CASP10	95	.	0			c.G1228A	GRCh37	CM990325	CASP10	M	rs13010627	PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,,ILE/VAL	70,4336	64.1+/-101.4	3,64,2136	85	77	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1027,1099,1099,1228,,1228	2.2	0	2	dbSNP_121	80	567,8033	154.0+/-208.3	20,527,3753	yes	missense,missense,missense,missense,utr-3,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	29,29,29,29,,29	23,591,5889	AA,AG,GG		6.593,1.5887,4.8977	benign,benign,benign,benign,,benign	343/456,367/479,367/480,410/522,,410/523	202074098	637,12369	2203	4300	6503	SO:0001583	missense	843	exon9			CCTTCCGTATCCA	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1228G>A	2.37:g.202074098G>A	ENSP00000272879:p.Val410Ile	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	141	79	0.560284	NM_032977	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	62	0.028388278388278388	0	0.0	19	0.052486187845303865	0	0.0	43	0.05672823218997362	G	12.00	1.805808	0.31961	0.015887	0.06593	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.05	2.23	0.28157	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.359770	0.04834	N	0.439300	T	0.02418	0.0074	L	0.47016	1.485	0.18873	A	1.96587e-05	P;D;D;D;D	0.61080	0.868;0.98;0.977;0.967;0.989	P;P;P;P;P	0.54140	0.527;0.45;0.651;0.563;0.743	T	0.07908	-1.0748	9	0.25106	T	0.35	.	7.8129	0.29241	0.2042:0.0:0.6801:0.1157	rs13010627;rs17860404;rs52822381;rs13010627	343;367;410;367;410	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	I	410;410;367;343;367	ENSP00000286186:V410I;ENSP00000272879:V410I;ENSP00000237865:V367I;ENSP00000314599:V343I;ENSP00000396835:V367I	ENSP00000272879:V410I	V	+	1	0	CASP10	201782343	0.122000	0.22280	0.000000	0.03702	0.000000	0.00434	1.441000	0.35035	0.195000	0.20347	-0.813000	0.03139	GTA	G|0.963;A|0.037	0.037	strong		0.532	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		A	202074098	G	A	202074098	3	1	22	1	0	0	0	0	1	0	0	0	2669	1145	40	1	1258	1	CASP10	2	202074098	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48723	202074098	41125275	1760	6868										
CASP8	841	hgsc.bcm.edu	37	chr2	202149696	202149696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctctcccatggagacaaGggcatcatctatggcactga	9	12	3	2	rs1045487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:202149696G>A	ENST00000432109.2	+	9	1149	c.960G>A	c.(958-960)aaG>aaA	p.K320K	CASP8_ENST00000264275.5_Silent_p.K337K|CASP8_ENST00000323492.7_Silent_p.K305K|CASP8_ENST00000264274.9_Silent_p.K236K|CASP8_ENST00000358485.4_Silent_p.K379K|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	320					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATGGAGACAAGGGCATCATCT	0.478										HNSCC(4;0.00038)			G|||	878	0.175319	0.2602	0.0504	5008	,	,		18997	0.1885		0.0417	False		,,,				2504	0.273				p.K379K	Melanoma(82;831 1348 20716 36952 40159)	Atlas-SNP	.											.	CASP8	272	.	0			c.G1137A						PASS	.	G	,,,,	942,3464	355.9+/-313.2	85,772,1346	174	147	156		915,1137,1011,960,915	0.8	1	2	dbSNP_86	156	439,8161	133.8+/-191.2	10,419,3871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CASP8	NM_001080124.1,NM_001080125.1,NM_001228.4,NM_033355.3,NM_033356.3	,,,,	95,1191,5217	AA,AG,GG		5.1047,21.3799,10.6182	,,,,	305/465,379/539,337/497,320/480,305/465	202149696	1381,11625	2203	4300	6503	SO:0001819	synonymous_variant	841	exon8			AGACAAGGGCATC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.960G>A	2.37:g.202149696G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	128	60	0.46875	NM_001080125	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	CCDS2342.1																																																																																			G|0.862;A|0.138	0.138	strong		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		A	202149696	G	A	202149696	2	1	22	1	0	0	0	0	0	0	0	1	2677	991	35	2		2	CASP8	2	202149696	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75598	202149696	41049677	1761	6869										
ALS2	57679	hgsc.bcm.edu	37	chr2	202593280	202593280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagaatgaaccaattcacGgaaaacctcccagcatgctg	8	11	1	2	rs3219161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:202593280G>A	ENST00000264276.6	-	15	3168	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	ALS2_ENST00000457679.2_Silent_p.S244S	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	932	PH. {ECO:0000305}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCAATTCACGGAAAACCTCC	0.483													g|||	576	0.115016	0.0696	0.0418	5008	,	,		18748	0.2431		0.0656	False		,,,				2504	0.1472				p.S932S		Atlas-SNP	.											.	ALS2	172	.	0			c.C2796T						PASS	.	G		230,3604		7,216,1694	105	106	106		2796	0.7	1	2	dbSNP_106	106	695,7565		26,643,3461	no	coding-synonymous	ALS2	NM_020919.3		33,859,5155	AA,AG,GG		8.414,5.999,7.6484		932/1658	202593280	925,11169	1917	4130	6047	SO:0001819	synonymous_variant	57679	exon15			ATTCACGGAAAAC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2796C>T	2.37:g.202593280G>A		Somatic	386	0	0		WXS	Illumina HiSeq	Phase_I	430	208	0.483721	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																			G|0.900;A|0.100	0.100	strong		0.483	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		A	202593280	G	A	202593280	2	1	22	1	0	0	0	0	0	0	0	1	550	1103	39	1		1	ALS2	2	202593280	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	443584	202593280	40606093	1762	6870										
PARD3B	117583	hgsc.bcm.edu	37	chr2	205990353	205990353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaatgggagagatgtcacCggacgaacccaggaagagct	14	8	1	2	rs2276676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:205990353C>T	ENST00000406610.2	+	10	1533	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	PARD3B_ENST00000358768.2_Silent_p.T442T|PARD3B_ENST00000349953.3_Silent_p.T442T|PARD3B_ENST00000351153.1_Silent_p.T442T|PARD3B_ENST00000462231.1_Silent_p.T442T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	442	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGATGTCACCGGACGAACCC	0.473													C|||	1538	0.307109	0.1097	0.4942	5008	,	,		19117	0.4167		0.3032	False		,,,				2504	0.3323				p.T442T		Atlas-SNP	.											.	PARD3B	314	.	0			c.C1326T						PASS	.	C	,,	541,3443		32,477,1483	104	104	104		1326,1326,1326	-3.8	0.9	2	dbSNP_100	104	2656,5698		437,1782,1958	no	coding-synonymous,coding-synonymous,coding-synonymous	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	,,	469,2259,3441	TT,TC,CC		31.7932,13.5793,25.9118	,,	442/1137,442/1144,442/1105	205990353	3197,9141	1992	4177	6169	SO:0001819	synonymous_variant	117583	exon10			TGTCACCGGACGA	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1326C>T	2.37:g.205990353C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	109	49	0.449541	NM_205863	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				T|0.294;C|0.706	0.294	strong		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		T	205990353	C	T	205990353	2	4	22	1	0	0	0	0	0	0	0	1	11444	639	23	1		1	PARD3B	2	205990353	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3397073	205990353	37209020	1763	6871										
PARD3B	117583	hgsc.bcm.edu	37	chr2	206364737	206364737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggaagagcaaggccatcTgagtatgacctactctgggt	13	8	2	3	rs10197347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:206364737T>C	ENST00000406610.2	+	21	3369	c.3162T>C	c.(3160-3162)tcT>tcC	p.S1054S	PARD3B_ENST00000358768.2_Silent_p.S992S|PARD3B_ENST00000351153.1_Silent_p.S985S|PARD3B_ENST00000349953.3_Silent_p.S953S|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1054					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAGGCCATCTGAGTATGACC	0.438													T|||	2246	0.448482	0.3601	0.5692	5008	,	,		21928	0.4871		0.4115	False		,,,				2504	0.4806				p.S992S		Atlas-SNP	.											.	PARD3B	314	.	0			c.T2976C						PASS	.	T	,,	1436,2416		266,904,756	216	198	203		2955,2976,2859	2.5	1	2	dbSNP_119	203	3152,5096		639,1874,1611	yes	coding-synonymous,coding-synonymous,coding-synonymous	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	,,	905,2778,2367	CC,CT,TT		38.2153,37.2793,37.9174	,,	985/1137,992/1144,953/1105	206364737	4588,7512	1926	4124	6050	SO:0001819	synonymous_variant	117583	exon20			GCCATCTGAGTAT	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3162T>C	2.37:g.206364737T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_152526	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				T|0.587;C|0.413	0.413	strong		0.438	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		C	206364737	T	C	206364737	2	2	22	1	0	0	0	0	0	0	0	1	11444	1567	55	3		3	PARD3B	2	206364737	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	374384	206364737	36834636	1764	6872										
NRP2	8828	hgsc.bcm.edu	37	chr2	206610502	206610502	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatgcactatgacaccccTgacatccgaaggtttgaccc	7	14	0	3	rs849563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:206610502T>G	ENST00000357785.5	+	10	1705	c.1674T>G	c.(1672-1674)ccT>ccG	p.P558P	NRP2_ENST00000540841.1_Silent_p.P558P|NRP2_ENST00000540178.1_Silent_p.P558P|NRP2_ENST00000357118.4_Silent_p.P558P|NRP2_ENST00000412873.2_Silent_p.P558P|NRP2_ENST00000360409.3_Silent_p.P558P|NRP2_ENST00000272849.3_Silent_p.P558P			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATGACACCCCTGACATCCGAA	0.607													T|||	1282	0.25599	0.205	0.2176	5008	,	,		18439	0.4593		0.1223	False		,,,				2504	0.2802				p.P558P		Atlas-SNP	.											.	NRP2	179	.	0			c.T1674G	GRCh37	CM073248	NRP2	M	rs849563	PASS	.	T	,,,,	832,3574	329.3+/-301.0	75,682,1446	110	89	96		1674,1674,1674,1674,1674	-11.7	0.1	2	dbSNP_86	96	1216,7384	245.4+/-274.3	82,1052,3166	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NRP2	NM_003872.2,NM_018534.3,NM_201266.1,NM_201267.1,NM_201279.1	,,,,	157,1734,4612	GG,GT,TT		14.1395,18.8833,15.7466	,,,,	558/927,558/907,558/932,558/902,558/910	206610502	2048,10958	2203	4300	6503	SO:0001819	synonymous_variant	8828	exon10			CACCCCTGACATC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1674T>G	2.37:g.206610502T>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_201279	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																			T|0.802;G|0.198	0.198	strong		0.607	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			G	206610502	T	G	206610502	2	3	22	1	0	0	0	0	0	0	0	1	10661	1567	55	5		5	NRP2	2	206610502	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	245765	206610502	36588871	1765	6873										
INO80D	54891	hgsc.bcm.edu	37	chr2	206892933	206892933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaagctttcctaaacgtAtgccggcatttcttttgacg	8	10	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:206892933A>G	ENST00000403263.1	-	6	1604	c.1200T>C	c.(1198-1200)caT>caC	p.H400H	Y_RNA_ENST00000384656.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	400					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCCTAAACGTATGCCGGCATT	0.507																																					p.H400H		Atlas-SNP	.											INO80D,colon,carcinoma,-2,1	INO80D	134	1	0			c.T1200C						scavenged	.						68	65	66					2																	206892933		1897	4122	6019	SO:0001819	synonymous_variant	54891	exon6			AAACGTATGCCGG		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1200T>C	2.37:g.206892933A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	125	3	0.024	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	CCDS46500.1																																																																																			.	.	none		0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		G	206892933	A	G	206892933	2	3	22	1	0	0	0	0	0	0	0	1	7749	446	16	2		2	INO80D	2	206892933	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	282431	206892933	36306440	1766	6874										
NDUFS1	4719	hgsc.bcm.edu	37	chr2	207012483	207012483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctactacatacctgcagAtcacattcacctccctggtc	4	15	3	1	rs11548670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:207012483A>G	ENST00000233190.6	-	6	680	c.414T>C	c.(412-414)gaT>gaC	p.D138D	NDUFS1_ENST00000455934.2_Silent_p.D152D|NDUFS1_ENST00000423725.1_Silent_p.D81D|NDUFS1_ENST00000449699.1_Silent_p.D138D|NDUFS1_ENST00000432169.1_Silent_p.D27D|NDUFS1_ENST00000440274.1_Silent_p.D102D|NDUFS1_ENST00000457011.1_Silent_p.D22D	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	138					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATACCTGCAGATCACATTCAC	0.358													A|||	329	0.0656949	0.1067	0.0288	5008	,	,		17593	0.0476		0.0408	False		,,,				2504	0.0808				p.D152D		Atlas-SNP	.											.	NDUFS1	82	.	0			c.T456C						PASS	.	A	,,,,	463,3943	222.6+/-239.4	26,411,1766	103	97	99		306,81,243,456,414	4.8	1	2	dbSNP_120	99	264,8336	101.6+/-162.9	6,252,4042	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDUFS1	NM_001199981.1,NM_001199982.1,NM_001199983.1,NM_001199984.1,NM_005006.6	,,,,	32,663,5808	GG,GA,AA		3.0698,10.5084,5.5897	,,,,	102/692,27/617,81/671,152/742,138/728	207012483	727,12279	2203	4300	6503	SO:0001819	synonymous_variant	4719	exon6			CTGCAGATCACAT		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.414T>C	2.37:g.207012483A>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	148	60	0.405405	NM_001199984	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																			A|0.946;G|0.054	0.054	strong		0.358	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	207012483	A	G	207012483	2	3	22	1	0	0	0	0	0	0	0	1	10291	330	12	2		2	NDUFS1	2	207012483	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	119550	207012483	36186890	1767	6875										
CPO	130749	hgsc.bcm.edu	37	chr2	207827220	207827220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagactaaagctgttgccaGcttcatagagagcaagaagg	12	7	1	3	rs62617140	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:207827220G>A	ENST00000272852.3	+	7	705	c.659G>A	c.(658-660)aGc>aAc	p.S220N		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	220						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GCTGTTGCCAGCTTCATAGAG	0.433													G|||	103	0.0205671	0.0008	0.0274	5008	,	,		21599	0.001		0.0716	False		,,,				2504	0.0102				p.S220N		Atlas-SNP	.											.	CPO	42	.	0			c.G659A						PASS	.	G	ASN/SER	62,4344	58.1+/-94.6	0,62,2141	206	196	199		659	3.7	0.3	2	dbSNP_129	199	408,8192	129.3+/-187.4	9,390,3901	yes	missense	CPO	NM_173077.2	46	9,452,6042	AA,AG,GG		4.7442,1.4072,3.6137	benign	220/375	207827220	470,12536	2203	4300	6503	SO:0001583	missense	130749	exon7			TTGCCAGCTTCAT		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.659G>A	2.37:g.207827220G>A	ENSP00000272852:p.Ser220Asn	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	148	68	0.459459	NM_173077	Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	61	0.027930402930402932	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	53	0.06992084432717678	G	0.429	-0.904539	0.02453	0.014072	0.047442	ENSG00000144410	ENST00000272852	T	0.27720	1.65	5.5	3.72	0.42706	Peptidase M14, carboxypeptidase A (2);	0.443249	0.28665	N	0.014547	T	0.00815	0.0027	N	0.03000	-0.44	0.22050	N	0.99939	B	0.12630	0.006	B	0.10450	0.005	T	0.22452	-1.0216	10	0.23302	T	0.38	.	7.3163	0.26503	0.2513:0.0:0.7487:0.0	rs62617140	220	Q8IVL8	CBPO_HUMAN	N	220	ENSP00000272852:S220N	ENSP00000272852:S220N	S	+	2	0	CPO	207535465	0.286000	0.24305	0.292000	0.24919	0.419000	0.31324	2.790000	0.47821	0.893000	0.36288	0.555000	0.69702	AGC	G|0.965;A|0.035	0.035	strong		0.433	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		A	207827220	G	A	207827220	3	1	22	1	0	0	0	0	1	0	0	0	3820	971	34	2	685	2	CPO	2	207827220	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	814737	207827220	35372153	1768	6876										
CPO	130749	hgsc.bcm.edu	37	chr2	207833983	207833983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgagggacagtggaacAtatgggtttgttctgccaga	15	6	1	2	rs7582305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:207833983A>G	ENST00000272852.3	+	9	994	c.948A>G	c.(946-948)acA>acG	p.T316T		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	316						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ACAGTGGAACATATGGGTTTG	0.512													A|||	1443	0.288139	0.3714	0.2003	5008	,	,		19868	0.2589		0.3032	False		,,,				2504	0.2526				p.T316T		Atlas-SNP	.											CPO,NS,carcinoma,+2,1	CPO	42	1	0			c.A948G						scavenged	.	A		1560,2846	489.4+/-361.5	292,976,935	143	127	132		948	-10.3	0	2	dbSNP_116	132	2629,5971	424.1+/-354.6	404,1821,2075	no	coding-synonymous	CPO	NM_173077.2		696,2797,3010	GG,GA,AA		30.5698,35.4063,32.2082		316/375	207833983	4189,8817	2203	4300	6503	SO:0001819	synonymous_variant	130749	exon9			TGGAACATATGGG		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.948A>G	2.37:g.207833983A>G		Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	196	103	0.52551	NM_173077	Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	CCDS2372.1																																																																																			A|0.685;G|0.315	0.315	strong		0.512	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		G	207833983	A	G	207833983	2	3	22	1	0	0	0	0	0	0	0	1	3820	204	8	2		2	CPO	2	207833983	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6763	207833983	35365390	1769	6877										
FAM119A	151194	hgsc.bcm.edu	37	chr2	208478055	208478055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccaaattttgtccccaAgtcagctccttaacaacagt	4	15	1	0	rs17520056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:208478055A>G	ENST00000411432.1	-	4	588	c.372T>C	c.(370-372)acT>acC	p.T124T	METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000426075.1_Silent_p.T124T|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000406927.2_Silent_p.T124T|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000272839.3_Silent_p.T142T|METTL21A_ENST00000442521.1_Silent_p.T124T|METTL21A_ENST00000448007.2_Silent_p.T124T	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	124					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.T124T(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TTTGTCCCCAAGTCAGCTCCT	0.368													A|||	1741	0.347644	0.233	0.3617	5008	,	,		20308	0.372		0.3072	False		,,,				2504	0.5092				p.T124T		Atlas-SNP	.											METTL21A,NS,carcinoma,0,1	METTL21A	24	1	1	Substitution - coding silent(1)	stomach(1)	c.T372C						PASS	.	A	,	1099,3307	392.8+/-328.6	138,823,1242	83	83	83		372,372	-5	0.9	2	dbSNP_123	83	2724,5876	432.7+/-357.2	427,1870,2003	no	coding-synonymous,coding-synonymous	METTL21A	NM_001127395.1,NM_145280.4	,	565,2693,3245	GG,GA,AA		31.6744,24.9433,29.3941	,	124/219,124/219	208478055	3823,9183	2203	4300	6503	SO:0001819	synonymous_variant	151194	exon4			TCCCCAAGTCAGC	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.372T>C	2.37:g.208478055A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	100	50	0.5	NM_145280	Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	CCDS2376.1																																																																																			A|0.705;G|0.295	0.295	strong		0.368	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		G	208478055	A	G	208478055	2	3	22	1	0	0	0	0	0	0	0	1	5413	59	3	3		3	FAM119A	2	208478055	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	644072	208478055	34721318	1770	6878										
FZD5	7855	hgsc.bcm.edu	37	chr2	208632817	208632817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagggtaccgcgcagttgGgcacctggcccgtccgcacc	14	16	0	0	rs35994626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:208632817G>A	ENST00000295417.3	-	2	1200	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	216			P -> L (in dbSNP:rs35994626).		angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGCGCAGTTGGGCACCTGGCC	0.647													G|||	124	0.0247604	0.0015	0.0346	5008	,	,		18142	0.0		0.0616	False		,,,				2504	0.0368				p.P216L		Atlas-SNP	.											.	FZD5	22	.	0			c.C647T						PASS	.	G	LEU/PRO	55,4351	50.9+/-86.3	0,55,2148	47	47	47		647	2.9	1	2	dbSNP_126	47	679,7921	166.8+/-218.7	26,627,3647	yes	missense	FZD5	NM_003468.3	98	26,682,5795	AA,AG,GG		7.8953,1.2483,5.6435	benign	216/586	208632817	734,12272	2203	4300	6503	SO:0001583	missense	7855	exon2			CAGTTGGGCACCT	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.647C>T	2.37:g.208632817G>A	ENSP00000354607:p.Pro216Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_003468	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	56	0.02564102564102564	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	42	0.055408970976253295	G	12.13	1.845603	0.32606	0.012483	0.078953	ENSG00000163251	ENST00000295417	T	0.79845	-1.31	5.05	2.94	0.34122	.	0.294105	0.32258	N	0.006352	T	0.08358	0.0208	L	0.28192	0.835	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43972	-0.9358	10	0.41790	T	0.15	.	3.0492	0.06164	0.1303:0.1681:0.5291:0.1726	rs35994626;rs61752181	216	Q13467	FZD5_HUMAN	L	216	ENSP00000354607:P216L	ENSP00000354607:P216L	P	-	2	0	FZD5	208341062	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.812000	0.47994	2.355000	0.79922	0.561000	0.74099	CCC	G|0.953;A|0.047	0.047	strong		0.647	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		A	208632817	G	A	208632817	3	1	22	1	0	0	0	0	1	0	0	0	6133	1232	43	2	1114	2	FZD5	2	208632817	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	154762	208632817	34566556	1771	6879										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209179939	209179939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctaatcataaccacatgAtggcactactccagcagttg	7	12	1	1	rs16840913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:209179939A>G	ENST00000264380.4	+	15	2007	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	617			M -> V (in dbSNP:rs16840913).		cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAACCACATGATGGCACTACT	0.408													A|||	141	0.028155	0.0651	0.0144	5008	,	,		19992	0.0		0.0308	False		,,,				2504	0.0143				p.M617V		Atlas-SNP	.											.	PIKFYVE	223	.	0			c.A1849G						PASS	.	A	VAL/MET	229,4177	136.5+/-172.5	5,219,1979	102	84	90		1849	4.5	1	2	dbSNP_123	90	245,8355	97.7+/-159.3	2,241,4057	yes	missense	PIKFYVE	NM_015040.3	21	7,460,6036	GG,GA,AA		2.8488,5.1975,3.6445	possibly-damaging	617/2099	209179939	474,12532	2203	4300	6503	SO:0001583	missense	200576	exon15			CACATGATGGCAC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1849A>G	2.37:g.209179939A>G	ENSP00000264380:p.Met617Val	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	50	0.022893772893772892	27	0.054878048780487805	4	0.011049723756906077	0	0.0	19	0.025065963060686015	A	16.98	3.270494	0.59540	0.051975	0.028488	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.77750	-1.12;-1.12	5.64	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.25647	0.755	0.80722	D	1	P;P	0.50156	0.932;0.726	D;P	0.67103	0.949;0.762	T	0.62676	-0.6804	10	0.25751	T	0.34	-20.3305	11.7245	0.51702	0.931:0.0:0.069:0.0	rs16840913;rs52824421;rs16840913	617;561	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	617;193;561	ENSP00000264380:M617V;ENSP00000405736:M561V	ENSP00000264380:M617V	M	+	1	0	PIKFYVE	208888184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.083000	0.41159	0.528000	0.53228	ATG	A|0.965;G|0.035	0.035	strong		0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209179939	A	G	209179939	3	3	22	1	0	0	0	0	1	0	0	0	11924	333	12	2	1914	2	PIKFYVE	2	209179939	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	547122	209179939	34019434	1772	6880										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209190632	209190632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttactgaggaagtcaccTcctctgaagataaacgaaag	9	8	2	3	rs999890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:209190632T>G	ENST00000264380.4	+	20	3255	c.3097T>G	c.(3097-3099)Tcc>Gcc	p.S1033A		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1033			S -> A (in dbSNP:rs999890).		cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAAGTCACCTCCTCTGAAGA	0.433													T|||	496	0.0990415	0.1513	0.1081	5008	,	,		20723	0.0089		0.1282	False		,,,				2504	0.0849				p.S1033A		Atlas-SNP	.											.	PIKFYVE	223	.	0			c.T3097G						PASS	.	T	ALA/SER	629,3777	270.4+/-269.6	39,551,1613	98	101	100		3097	-0.5	0	2	dbSNP_86	100	1207,7393	244.7+/-273.8	76,1055,3169	yes	missense	PIKFYVE	NM_015040.3	99	115,1606,4782	GG,GT,TT		14.0349,14.276,14.1166	probably-damaging	1033/2099	209190632	1836,11170	2203	4300	6503	SO:0001583	missense	200576	exon20			GTCACCTCCTCTG	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3097T>G	2.37:g.209190632T>G	ENSP00000264380:p.Ser1033Ala	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	200	0.09157509157509157	67	0.13617886178861788	38	0.10497237569060773	2	0.0034965034965034965	93	0.12269129287598944	T	6.037	0.375195	0.11409	0.14276	0.140349	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31769	1.48;1.61	6.17	-0.478	0.12093	.	0.293705	0.33438	N	0.004919	T	0.00178	0.0005	M	0.71581	2.175	0.19575	P	0.9999630138	B;B	0.23650	0.089;0.0	B;B	0.25506	0.061;0.001	T	0.20538	-1.0272	9	0.10377	T	0.69	-0.8691	2.5622	0.04774	0.1093:0.1811:0.1141:0.5956	rs999890;rs16840965;rs52825237;rs58476487;rs999890	1033;977	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	A	1033;609;977	ENSP00000264380:S1033A;ENSP00000405736:S977A	ENSP00000264380:S1033A	S	+	1	0	PIKFYVE	208898877	0.997000	0.39634	0.019000	0.16419	0.075000	0.17131	2.824000	0.48088	-0.287000	0.09064	-0.290000	0.09829	TCC	T|0.884;G|0.116	0.116	strong		0.433	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209190632	T	G	209190632	3	3	22	1	0	0	0	0	1	0	0	0	11924	1551	54	5	3182	5	PIKFYVE	2	209190632	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10693	209190632	34008741	1773	6881										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209190649	209190649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcctctgaagataaacgAaagacttattctttggcctt	6	10	2	3	rs999891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:209190649A>G	ENST00000264380.4	+	20	3272	c.3114A>G	c.(3112-3114)cgA>cgG	p.R1038R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1038					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGATAAACGAAAGACTTATT	0.413													A|||	496	0.0990415	0.1513	0.1081	5008	,	,		20915	0.0089		0.1282	False		,,,				2504	0.0849				p.R1038R		Atlas-SNP	.											PIKFYVE,colon,carcinoma,+1,1	PIKFYVE	223	1	0			c.A3114G						PASS	.	A		626,3780	265.6+/-266.7	39,548,1616	95	99	98		3114	-10.8	0.6	2	dbSNP_86	98	1205,7395	243.3+/-273.0	76,1053,3171	no	coding-synonymous	PIKFYVE	NM_015040.3		115,1601,4787	GG,GA,AA		14.0116,14.2079,14.0781		1038/2099	209190649	1831,11175	2203	4300	6503	SO:0001819	synonymous_variant	200576	exon20			TAAACGAAAGACT	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3114A>G	2.37:g.209190649A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																			A|0.882;G|0.118	0.118	strong		0.413	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209190649	A	G	209190649	2	3	22	1	0	0	0	0	0	0	0	1	11924	233	9	2		2	PIKFYVE	2	209190649	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17	209190649	34008724	1774	6882										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209215571	209215571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cataagatgcgtgaagtgatTctggacagcagtgaagaaga	13	5	1	6	rs13020468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:209215571T>C	ENST00000264380.4	+	37	5669	c.5511T>C	c.(5509-5511)atT>atC	p.I1837I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1837	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTGAAGTGATTCTGGACAGCA	0.458													T|||	140	0.0279553	0.0643	0.0144	5008	,	,		16709	0.0		0.0308	False		,,,				2504	0.0143				p.I1837I		Atlas-SNP	.											.	PIKFYVE	223	.	0			c.T5511C						PASS	.	T		229,4177	136.5+/-172.5	5,219,1979	139	133	135		5511	0	1	2	dbSNP_121	135	252,8348	99.9+/-161.4	2,248,4050	no	coding-synonymous	PIKFYVE	NM_015040.3		7,467,6029	CC,CT,TT		2.9302,5.1975,3.6983		1837/2099	209215571	481,12525	2203	4300	6503	SO:0001819	synonymous_variant	200576	exon37			AGTGATTCTGGAC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5511T>C	2.37:g.209215571T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																			T|0.967;C|0.033	0.033	strong		0.458	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		C	209215571	T	C	209215571	2	2	22	1	0	0	0	0	0	0	0	1	11924	1771	62	2		2	PIKFYVE	2	209215571	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24922	209215571	33983802	1775	6883										
PTH2R	5746	hgsc.bcm.edu	37	chr2	209353800	209353800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcattacatcgtgttcgtAtgcctgcctcactccttcac	7	14	2	0	rs16841294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:209353800A>G	ENST00000272847.2	+	11	1353	c.1140A>G	c.(1138-1140)gtA>gtG	p.V380V	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	380					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCGTGTTCGTATGCCTGCCTC	0.493													A|||	642	0.128195	0.3495	0.0865	5008	,	,		15681	0.0069		0.0636	False		,,,				2504	0.0501				p.V380V		Atlas-SNP	.											.	PTH2R	92	.	0			c.A1140G						PASS	.	A		1468,2938	471.8+/-356.2	247,974,982	235	194	208		1140	-0.5	0.6	2	dbSNP_123	208	608,7992	159.4+/-212.7	21,566,3713	no	coding-synonymous	PTH2R	NM_005048.2		268,1540,4695	GG,GA,AA		7.0698,33.3182,15.9619		380/551	209353800	2076,10930	2203	4300	6503	SO:0001819	synonymous_variant	5746	exon11			GTTCGTATGCCTG	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1140A>G	2.37:g.209353800A>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	196	196	1	NM_005048	Q8N429	Silent	SNP	ENST00000272847.2	37	CCDS2383.1																																																																																			A|0.858;G|0.142	0.142	strong		0.493	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		G	209353800	A	G	209353800	2	3	22	1	0	0	0	0	0	0	0	1	12760	436	16	2		2	PTH2R	2	209353800	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	138229	209353800	33845573	1776	6884										
MAP2	4133	hgsc.bcm.edu	37	chr2	210557380	210557380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcgaagatggagttccaCgatcaacaggaattgactcc	10	11	1	2	rs6720659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:210557380C>T	ENST00000360351.4	+	7	992	c.486C>T	c.(484-486)caC>caT	p.H162H	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.H158H|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	162					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGGAGTTCCACGATCAACAGG	0.408													T|||	823	0.164337	0.2746	0.0692	5008	,	,		19732	0.1984		0.0765	False		,,,				2504	0.138				p.H162H	Pancreas(27;423 979 28787 29963)	Atlas-SNP	.											.	MAP2	372	.	0			c.C486T						PASS	.	T	,,,	1102,3304	720.3+/-409.0	148,806,1249	66	62	63		,486,,	-3.4	0	2	dbSNP_116	63	605,7995	791.3+/-407.6	19,567,3714	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	167,1373,4963	TT,TC,CC		7.0349,25.0113,13.1247	,,,	,162/1828,,	210557380	1707,11299	2203	4300	6503	SO:0001819	synonymous_variant	4133	exon7			GTTCCACGATCAA		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.486C>T	2.37:g.210557380C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	86	50	0.581395	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																			C|0.852;T|0.148	0.148	strong		0.408	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210557380	C	T	210557380	2	4	22	1	0	0	0	0	0	0	0	1	9235	535	19	1		1	MAP2	2	210557380	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1203580	210557380	32641993	1777	6885										
MAP2	4133	hgsc.bcm.edu	37	chr2	210558162	210558162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagagactgtgcagcaaaGggatactttcacccccagtg	10	11	2	1	rs741006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:210558162G>A	ENST00000360351.4	+	7	1774	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R419K|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	423			R -> K (in dbSNP:rs741006).		axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTGCAGCAAAGGGATACTTTC	0.418													A|||	822	0.164137	0.2746	0.0692	5008	,	,		19500	0.1974		0.0765	False		,,,				2504	0.138				p.R423K	Pancreas(27;423 979 28787 29963)	Atlas-SNP	.											.	MAP2	372	.	0			c.G1268A						PASS	.	A	,LYS/ARG,,	1090,3316	712.4+/-408.1	145,800,1258	89	91	90		,1268,,	0.5	0	2	dbSNP_86	90	599,8001	788.3+/-407.6	19,561,3720	yes	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,26,,	164,1361,4978	AA,AG,GG		6.9651,24.739,12.9863	,benign,,	,423/1828,,	210558162	1689,11317	2203	4300	6503	SO:0001583	missense	4133	exon7			AGCAAAGGGATAC		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1268G>A	2.37:g.210558162G>A	ENSP00000353508:p.Arg423Lys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	210	110	0.52381	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	311	0.1423992673992674	119	0.241869918699187	28	0.07734806629834254	109	0.19055944055944055	55	0.07255936675461741	A	0	-2.587322	0.00128	0.24739	0.069651	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.14391	2.51;2.51;2.51	5.8	0.492	0.16872	MAP2/Tau projection (1);	0.451737	0.22705	N	0.056642	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35624	-0.9781	9	0.02654	T	1	-4.1355	2.293	0.04143	0.5161:0.2401:0.1286:0.1152	rs741006;rs59017203;rs741006	419;423	P11137-3;P11137	.;MAP2_HUMAN	K	423;505;419	ENSP00000353508:R423K;ENSP00000409969:R505K;ENSP00000392164:R419K	ENSP00000353508:R423K	R	+	2	0	MAP2	210266407	0.945000	0.32115	0.000000	0.03702	0.003000	0.03518	0.818000	0.27295	-0.412000	0.07519	-0.269000	0.10298	AGG	G|0.850;A|0.150	0.150	strong		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210558162	G	A	210558162	3	1	22	1	0	0	0	0	1	0	0	0	9235	1000	35	2	1282	2	MAP2	2	210558162	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	782	210558162	32641211	1778	6886										
MAP2	4133	hgsc.bcm.edu	37	chr2	210559960	210559960	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagggtcttagttcagtGccagagatagctgaggtaga	15	5	2	4	rs2239672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:210559960G>T	ENST00000360351.4	+	7	3572	c.3066G>T	c.(3064-3066)gtG>gtT	p.V1022V	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.V1018V|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1022					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTAGTTCAGTGCCAGAGATAG	0.433													G|||	673	0.134385	0.1641	0.0634	5008	,	,		22183	0.1984		0.0765	False		,,,				2504	0.138				p.V1022V	Pancreas(27;423 979 28787 29963)	Atlas-SNP	.											.	MAP2	372	.	0			c.G3066T						PASS	.	G	,,,	655,3751	277.8+/-273.9	45,565,1593	100	98	99		,3066,,	0.5	1	2	dbSNP_98	99	603,7997	159.5+/-212.8	19,565,3716	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	64,1130,5309	TT,TG,GG		7.0116,14.8661,9.6725	,,,	,1022/1828,,	210559960	1258,11748	2203	4300	6503	SO:0001819	synonymous_variant	4133	exon7			TTCAGTGCCAGAG		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3066G>T	2.37:g.210559960G>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																			G|0.883;T|0.117	0.117	strong		0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210559960	G	T	210559960	2	4	22	1	0	0	0	0	0	0	0	1	9235	1306	46	4		4	MAP2	2	210559960	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1798	210559960	32639413	1779	6887										
ACADL	33	hgsc.bcm.edu	37	chr2	211060050	211060050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttttaattctgctaattTatgttgcactgtcttgaatt	6	5	2	1	rs2286963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:211060050T>G	ENST00000233710.3	-	9	1224	c.997A>C	c.(997-999)Aaa>Caa	p.K333Q	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	333			K -> Q (in dbSNP:rs2286963). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.7}.		carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCTGCTAATTTATGTTGCACT	0.353													T|||	1057	0.211062	0.0893	0.2248	5008	,	,		18082	0.1865		0.3131	False		,,,				2504	0.2863				p.K333Q		Atlas-SNP	.											.	ACADL	38	.	0			c.A997C						PASS	.	T	GLN/LYS	661,3745	280.5+/-275.4	53,555,1595	90	86	88	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	997	5.8	1	2	dbSNP_100	88	2936,5664	456.2+/-364.0	488,1960,1852	yes	missense	ACADL	NM_001608.3	53	541,2515,3447	GG,GT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	34.1395,15.0023,27.6565	probably-damaging	333/431	211060050	3597,9409	2203	4300	6503	SO:0001583	missense	33	exon9			CTAATTTATGTTG	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.997A>C	2.37:g.211060050T>G	ENSP00000233710:p.Lys333Gln	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	115	62	0.53913	NM_001608	B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	CCDS2389.1	500	0.22893772893772893	55	0.11178861788617886	100	0.27624309392265195	105	0.18356643356643357	240	0.316622691292876	T	18.22	3.576473	0.65878	0.150023	0.341395	ENSG00000115361	ENST00000233710	D	0.96232	-3.95	5.77	5.77	0.91146	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.041576	0.85682	D	0.000000	T	0.00039	0.0001	L	0.57130	1.785	0.09310	P	0.99999853838	D	0.56968	0.978	P	0.58577	0.841	T	0.00000	-1.5769	9	0.31617	T	0.26	.	16.1475	0.81580	0.0:0.0:0.0:1.0	rs2286963;rs17769161;rs56601090;rs59503505;rs2286963	333	P28330	ACADL_HUMAN	Q	333	ENSP00000233710:K333Q	ENSP00000233710:K333Q	K	-	1	0	ACADL	210768295	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.842000	0.75379	2.213000	0.71641	0.529000	0.55759	AAA	G|0.250;N|0.000	0.250	strong		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		G	211060050	T	G	211060050	3	3	22	1	0	0	0	0	1	0	0	0	112	1763	61	5	307	5	ACADL	2	211060050	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	500090	211060050	32139323	1780	6888										
ABCA12	26154	hgsc.bcm.edu	37	chr2	215851303	215851303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccattgggccccagcaAtgaagtaatatgcccttcat	8	12	1	1	rs34351934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:215851303A>G	ENST00000272895.7	-	28	4345	c.4126T>C	c.(4126-4128)Ttg>Ctg	p.L1376L	ABCA12_ENST00000389661.4_Silent_p.L1058L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1376	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCCCCAGCAATGAAGTAATA	0.408													A|||	1037	0.207069	0.4312	0.255	5008	,	,		15281	0.0407		0.0924	False		,,,				2504	0.1595				p.L1376L	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											ABCA12,NS,carcinoma,+2,1	ABCA12	368	1	0			c.T4126C						PASS	.	A	,	1664,2742	506.9+/-366.5	316,1032,855	71	68	69		3172,4126	2.1	1	2	dbSNP_126	69	871,7729	197.6+/-242.2	47,777,3476	no	coding-synonymous,coding-synonymous	ABCA12	NM_015657.3,NM_173076.2	,	363,1809,4331	GG,GA,AA		10.1279,37.7667,19.491	,	1058/2278,1376/2596	215851303	2535,10471	2203	4300	6503	SO:0001819	synonymous_variant	26154	exon28			CCAGCAATGAAGT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4126T>C	2.37:g.215851303A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																			A|0.807;G|0.193	0.193	strong		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215851303	A	G	215851303	2	3	22	1	0	0	0	0	0	0	0	1	30	98	4	2		2	ABCA12	2	215851303	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4791253	215851303	27348070	1781	6889										
ABCA12	26154	hgsc.bcm.edu	37	chr2	215876371	215876371	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcggttgcttctgtacatTgcctgtgagacaaaaatcca	8	9	1	1	rs10198064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:215876371T>C	ENST00000272895.7	-	17	2343	c.2124A>G	c.(2122-2124)gcA>gcG	p.A708A	ABCA12_ENST00000389661.4_Silent_p.A390A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	708					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTGTACATTGCCTGTGAGA	0.373													T|||	1399	0.279353	0.6982	0.2752	5008	,	,		17328	0.0456		0.0845	False		,,,				2504	0.1575				p.A708A	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											ABCA12,NS,carcinoma,-1,1	ABCA12	368	1	0			c.A2124G						PASS	.	T	,	2641,1765	644.0+/-397.9	786,1069,348	145	139	141		1170,2124	-4.7	0.6	2	dbSNP_119	141	785,7815	185.7+/-233.4	33,719,3548	no	coding-synonymous,coding-synonymous	ABCA12	NM_015657.3,NM_173076.2	,	819,1788,3896	CC,CT,TT		9.1279,40.059,26.3417	,	390/2278,708/2596	215876371	3426,9580	2203	4300	6503	SO:0001819	synonymous_variant	26154	exon17			GTACATTGCCTGT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2124A>G	2.37:g.215876371T>C		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	221	112	0.506787	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																			T|0.734;C|0.266	0.266	strong		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215876371	T	C	215876371	2	2	22	1	0	0	0	0	0	0	0	1	30	1799	63	2		2	ABCA12	2	215876371	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25068	215876371	27323002	1782	6890										
FN1	2335	hgsc.bcm.edu	37	chr2	216298084	216298084	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctccctcgcccagccccGatgcaggtacagtcccagat	8	17	1	1	rs2289202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:216298084G>A	ENST00000359671.1	-	3	643	c.378C>T	c.(376-378)atC>atT	p.I126I	FN1_ENST00000336916.4_Silent_p.I126I|FN1_ENST00000432072.2_Silent_p.I126I|FN1_ENST00000354785.4_Silent_p.I126I|FN1_ENST00000421182.1_Silent_p.I126I|FN1_ENST00000357009.2_Silent_p.I126I|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000345488.5_Silent_p.I126I|FN1_ENST00000323926.6_Silent_p.I126I|FN1_ENST00000346544.3_Silent_p.I126I|FN1_ENST00000426059.1_Silent_p.I126I|FN1_ENST00000356005.4_Silent_p.I126I|FN1_ENST00000446046.1_Silent_p.I126I|FN1_ENST00000357867.4_Silent_p.I126I|FN1_ENST00000443816.1_Silent_p.I126I			P02751	FINC_HUMAN	fibronectin 1	126	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.			I -> V (in Ref. 5; CAH18136). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCCAGCCCCGATGCAGGTAC	0.448													G|||	722	0.144169	0.2549	0.1427	5008	,	,		21425	0.001		0.2445	False		,,,				2504	0.0399				p.I126I		Atlas-SNP	.											FN1,NS,carcinoma,-2,1	FN1	521	1	0			c.C378T						PASS	.	G	,,,,,	1058,3348	387.0+/-326.3	123,812,1268	159	144	149		378,378,378,378,378,378	-5.8	0.8	2	dbSNP_100	149	2099,6501	363.0+/-333.0	266,1567,2467	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,,	389,2379,3735	AA,AG,GG		24.407,24.0127,24.2734	,,,,,	126/2356,126/658,126/2177,126/2297,126/2331,126/2478	216298084	3157,9849	2203	4300	6503	SO:0001819	synonymous_variant	2335	exon3			AGCCCCGATGCAG		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.378C>T	2.37:g.216298084G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	142	57	0.401408	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																				G|0.783;A|0.217	0.217	strong		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216298084	G	A	216298084	2	1	22	1	0	0	0	0	0	0	0	1	5962	1048	37	1		1	FN1	2	216298084	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	421713	216298084	26901289	1783	6891										
PECR	55825	hgsc.bcm.edu	37	chr2	216923679	216923679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgatagatcctccatgctCtttcatccaggagctgtaaa	8	11	2	1	rs1429148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:216923679C>T	ENST00000265322.7	-	4	519	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	149			E -> K (in dbSNP:rs1429148).		fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCTCCATGCTCTTTCATCCAG	0.393													C|||	877	0.17512	0.2451	0.1167	5008	,	,		19157	0.1935		0.0497	False		,,,				2504	0.2321				p.E149K		Atlas-SNP	.											.	PECR	22	.	0			c.G445A						PASS	.	C	LYS/GLU	941,3465	358.6+/-314.5	97,747,1359	111	107	108		445	-1	0.2	2	dbSNP_88	108	508,8092	145.1+/-200.9	12,484,3804	yes	missense	PECR	NM_018441.5	56	109,1231,5163	TT,TC,CC		5.907,21.3572,11.141	benign	149/304	216923679	1449,11557	2203	4300	6503	SO:0001583	missense	55825	exon4			CATGCTCTTTCAT	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.445G>A	2.37:g.216923679C>T	ENSP00000265322:p.Glu149Lys	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	152	64	0.421053	NM_018441	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	334	0.15293040293040294	118	0.23983739837398374	37	0.10220994475138122	141	0.2465034965034965	38	0.05013192612137203	C	8.624	0.892018	0.17613	0.213572	0.05907	ENSG00000115425	ENST00000265322	T	0.42513	0.97	5.77	-1.01	0.10169	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.630718	0.17997	N	0.155025	T	0.00012	0.0000	N	0.02775	-0.495	0.28925	P	0.891905	B;B	0.15930	0.005;0.015	B;B	0.25614	0.027;0.062	T	0.34650	-0.9820	9	0.10377	T	0.69	.	6.3072	0.21145	0.0:0.4753:0.1195:0.4052	rs1429148;rs3732029;rs59553324;rs1429148	149;3	Q9BY49;Q9BY49-2	PECR_HUMAN;.	K	149	ENSP00000265322:E149K	ENSP00000265322:E149K	E	-	1	0	PECR	216631924	0.024000	0.19004	0.180000	0.23079	0.930000	0.56654	-0.209000	0.09358	-0.531000	0.06340	-1.106000	0.02097	GAG	C|0.862;T|0.138	0.138	strong		0.393	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		T	216923679	C	T	216923679	3	4	22	1	0	0	0	0	1	0	0	0	11717	922	32	2	486	2	PECR	2	216923679	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	625595	216923679	26275694	1784	6892										
SMARCAL1	50485	hgsc.bcm.edu	37	chr2	217285104	217285104	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgagtcaccctccaccagCagtgagggacaggccggcct	13	15	1	1	rs2066522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:217285104C>G	ENST00000357276.4	+	5	1275	c.945C>G	c.(943-945)agC>agG	p.S315R	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S315R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	315			S -> R (in dbSNP:rs2066522).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCTCCACCAGCAGTGAGGGAC	0.572									Schimke Immuno-Osseous Dysplasia				C|||	170	0.0339457	0.0809	0.0331	5008	,	,		17373	0.0		0.0338	False		,,,				2504	0.0061				p.S315R		Atlas-SNP	.											SMARCAL1,right_upper_lobe,carcinoma,+1,1	SMARCAL1	93	1	0			c.C945G						scavenged	.	C	ARG/SER,ARG/SER	353,4053	181.9+/-209.8	17,319,1867	90	73	79		945,945	-0.2	0	2	dbSNP_98	79	249,8351	99.3+/-160.8	2,245,4053	yes	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	110,110	19,564,5920	GG,GC,CC		2.8953,8.0118,4.6286	possibly-damaging,possibly-damaging	315/955,315/955	217285104	602,12404	2203	4300	6503	SO:0001583	missense	50485	exon5	Familial Cancer Database	SIOD	CACCAGCAGTGAG	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.945C>G	2.37:g.217285104C>G	ENSP00000349823:p.Ser315Arg	Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	160	76	0.475	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	65	0.02976190476190476	36	0.07317073170731707	9	0.024861878453038673	0	0.0	20	0.026385224274406333	C	19.69	3.875544	0.72180	0.080118	0.028953	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85955	-2.04;-2.04;1.51;-2.05;0.68	3.96	-0.186	0.13272	.	1.145540	0.06356	N	0.710693	T	0.14614	0.0353	L	0.36672	1.1	0.09310	N	1	P	0.43287	0.802	B	0.31614	0.133	T	0.38436	-0.9661	10	0.38643	T	0.18	.	7.9086	0.29776	0.0:0.6035:0.0:0.3965	rs2066522;rs2266768;rs52816735;rs2066522	315	Q9NZC9	SMAL1_HUMAN	R	315;315;214;179;35	ENSP00000349823:S315R;ENSP00000350940:S315R;ENSP00000392997:S214R;ENSP00000375974:S179R;ENSP00000390248:S35R	ENSP00000349823:S315R	S	+	3	2	SMARCAL1	216993349	0.000000	0.05858	0.001000	0.08648	0.897000	0.52465	0.450000	0.21762	0.000000	0.14550	0.561000	0.74099	AGC	C|0.957;G|0.043	0.043	strong		0.572	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217285104	C	G	217285104	3	3	22	1	0	0	0	0	1	0	0	0	14773	709	25	4	955	4	SMARCAL1	2	217285104	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	361425	217285104	25914269	1785	6893										
SMARCAL1	50485	hgsc.bcm.edu	37	chr2	217315787	217315787	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaccaccaaggacaaaacTgtgagtccagggctggagac	12	10	0	3	rs2066527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:217315787T>C	ENST00000357276.4	+	12	2400	c.2070T>C	c.(2068-2070)acT>acC	p.T690T	SMARCAL1_ENST00000358207.5_Splice_Site_p.T690T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	690					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGGACAAAACTGTGAGTCCAG	0.527									Schimke Immuno-Osseous Dysplasia				T|||	423	0.0844649	0.0431	0.0476	5008	,	,		20873	0.0079		0.1044	False		,,,				2504	0.2249				p.T690T		Atlas-SNP	.											SMARCAL1,NS,carcinoma,0,1	SMARCAL1	93	1	0			c.T2070C						PASS	.	T	,	214,4192	123.7+/-161.0	10,194,1999	34	36	35		2070,2070	-3.5	0.9	2	dbSNP_98	35	1086,7514	222.0+/-259.2	63,960,3277	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	SMARCAL1	NM_001127207.1,NM_014140.3	,	73,1154,5276	CC,CT,TT		12.6279,4.857,9.9954	,	690/955,690/955	217315787	1300,11706	2203	4300	6503	SO:0001630	splice_region_variant	50485	exon12	Familial Cancer Database	SIOD	CAAAACTGTGAGT	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2070+1T>C	2.37:g.217315787T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	118	62	0.525424	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1																																																																																			T|0.912;C|0.088	0.088	strong		0.527	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		Silent	C	217315787	T	C	217315787	5	2	22	1	0	0	0	0	0	0	1	0	14773	1594	55	3	2108	3	SMARCAL1	2	217315787	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30683	217315787	25883586	1786	6894										
TNS1	7145	hgsc.bcm.edu	37	chr2	218674614	218674614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaacgatggtggcagctggCgtggggtctgcagccaacgt	17	9	1	1	rs13417442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218674614C>T	ENST00000171887.4	-	30	5345	c.4893G>A	c.(4891-4893)acG>acA	p.T1631T	TNS1_ENST00000419504.1_Silent_p.T1617T|TNS1_ENST00000430930.1_Silent_p.T1610T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1631					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCAGCTGGCGTGGGGTCTG	0.562																																					p.T1631T		Atlas-SNP	.											.	TNS1	251	.	0			c.G4893A						PASS	.			188,4218	120.8+/-158.4	8,172,2023	93	84	87		4893	-5.2	0.9	2	dbSNP_121	87	628,7972	162.5+/-215.2	27,574,3699	yes	coding-synonymous	TNS1	NM_022648.4		35,746,5722	TT,TC,CC		7.3023,4.2669,6.274		1631/1736	218674614	816,12190	2203	4300	6503	SO:0001819	synonymous_variant	7145	exon30			AGCTGGCGTGGGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4893G>A	2.37:g.218674614C>T		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	230	136	0.591304	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			C|0.934;T|0.066	0.066	strong		0.562	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218674614	C	T	218674614	2	4	22	1	0	0	0	0	0	0	0	1	16340	755	27	1		1	TNS1	2	218674614	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1358827	218674614	24524759	1787	6895										
TNS1	7145	hgsc.bcm.edu	37	chr2	218674697	218674697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccatgtccacagagttgaCgaagagcacattgcaggctg	11	11	0	3	rs918949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218674697C>T	ENST00000171887.4	-	30	5262	c.4810G>A	c.(4810-4812)Gtc>Atc	p.V1604I	TNS1_ENST00000419504.1_Missense_Mutation_p.V1590I|TNS1_ENST00000430930.1_Missense_Mutation_p.V1583I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1604			V -> I (in dbSNP:rs918949). {ECO:0000269|PubMed:11023826}.		cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACAGAGTTGACGAAGAGCACA	0.567													.|||	3056	0.610224	0.8071	0.5922	5008	,	,		20607	0.505		0.5865	False		,,,				2504	0.4898				p.V1604I		Atlas-SNP	.											.	TNS1	251	.	0			c.G4810A						PASS	.		ILE/VAL	3386,1020	727.3+/-409.8	1299,788,116	66	65	65		4810	-4.7	0.4	2	dbSNP_86	65	5251,3349	643.9+/-400.0	1619,2013,668	yes	missense	TNS1	NM_022648.4	29	2918,2801,784	TT,TC,CC		38.9419,23.1502,33.5922	benign	1604/1736	218674697	8637,4369	2203	4300	6503	SO:0001583	missense	7145	exon30			AGTTGACGAAGAG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4810G>A	2.37:g.218674697C>T	ENSP00000171887:p.Val1604Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	117	116	0.991453	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	1356	0.6208791208791209	391	0.7947154471544715	225	0.6215469613259669	285	0.4982517482517482	455	0.600263852242744	c	0.884	-0.727836	0.03158	0.768498	0.610581	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.44	-4.71	0.03279	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.375075	0.25628	N	0.029377	T	0.00012	0.0000	N	0.00298	-1.69	0.09310	P	0.9999999999998628	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.44205	-0.9343	9	0.12430	T	0.62	.	15.3963	0.74798	0.0:0.2186:0.0:0.7814	rs918949;rs3853996;rs52826748;rs60183014;rs918949	1604;1583;1590	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	I	1604;742;1590;1583	ENSP00000171887:V1604I;ENSP00000394171:V742I;ENSP00000408724:V1590I;ENSP00000406016:V1583I	ENSP00000171887:V1604I	V	-	1	0	TNS1	218382942	1.000000	0.71417	0.368000	0.25939	0.728000	0.41692	0.655000	0.24933	-1.539000	0.01732	-0.401000	0.06369	GTC	C|0.354;T|0.646	0.646	strong		0.567	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218674697	C	T	218674697	3	4	22	1	0	0	0	0	1	0	0	0	16340	536	19	1	413	1	TNS1	2	218674697	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83	218674697	24524676	1788	6896										
TNS1	7145	hgsc.bcm.edu	37	chr2	218682474	218682474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggagacggtgctgcccccActgggactggacatgccgct	14	13	0	1	rs12694422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218682474A>G	ENST00000171887.4	-	24	4721	c.4269T>C	c.(4267-4269)agT>agC	p.S1423S	TNS1_ENST00000419504.1_Silent_p.S1410S|TNS1_ENST00000430930.1_Silent_p.S1402S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1423					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCTGCCCCCACTGGGACTGG	0.612													G|||	1887	0.376797	0.4009	0.428	5008	,	,		18286	0.246		0.4056	False		,,,				2504	0.4131				p.S1423S		Atlas-SNP	.											.	TNS1	251	.	0			c.T4269C						PASS	.	G		1721,2685	649.9+/-399.0	357,1007,839	77	70	73		4269	-5.5	0.7	2	dbSNP_121	73	3560,5040	628.6+/-398.1	744,2072,1484	no	coding-synonymous	TNS1	NM_022648.4		1101,3079,2323	GG,GA,AA		41.3953,39.0604,40.6043		1423/1736	218682474	5281,7725	2203	4300	6503	SO:0001819	synonymous_variant	7145	exon24			GCCCCCACTGGGA	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4269T>C	2.37:g.218682474A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			A|0.613;G|0.387	0.387	strong		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218682474	A	G	218682474	2	3	22	1	0	0	0	0	0	0	0	1	16340	156	6	2		2	TNS1	2	218682474	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7777	218682474	24516899	1789	6897										
TNS1	7145	hgsc.bcm.edu	37	chr2	218682771	218682771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccggggtagaatagccAccataggccacatgccggtc	11	14	0	1	rs3796026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218682771A>G	ENST00000171887.4	-	24	4424	c.3972T>C	c.(3970-3972)ggT>ggC	p.G1324G	TNS1_ENST00000419504.1_Silent_p.G1311G|TNS1_ENST00000430930.1_Silent_p.G1303G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1324					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAATAGCCACCATAGGCCA	0.657													A|||	1667	0.332867	0.2443	0.4121	5008	,	,		16095	0.246		0.4056	False		,,,				2504	0.411				p.G1324G		Atlas-SNP	.											.	TNS1	251	.	0			c.T3972C						PASS	.	A		1033,3371		148,737,1317	21	22	22		3972	-6.1	1	2	dbSNP_107	22	3418,5176		734,1950,1613	no	coding-synonymous	TNS1	NM_022648.4		882,2687,2930	GG,GA,AA		39.7719,23.4559,34.2437		1324/1736	218682771	4451,8547	2202	4297	6499	SO:0001819	synonymous_variant	7145	exon24			ATAGCCACCATAG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3972T>C	2.37:g.218682771A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			A|0.689;G|0.311	0.311	strong		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218682771	A	G	218682771	2	3	22	1	0	0	0	0	0	0	0	1	16340	146	6	2		2	TNS1	2	218682771	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	297	218682771	24516602	1790	6898										
TNS1	7145	hgsc.bcm.edu	37	chr2	218683139	218683139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgggggcagccatgctggGattgatggcccgccagccga	17	12	0	1	rs34291329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218683139G>A	ENST00000171887.4	-	24	4056	c.3604C>T	c.(3604-3606)Ccc>Tcc	p.P1202S	TNS1_ENST00000419504.1_Missense_Mutation_p.P1189S|TNS1_ENST00000430930.1_Missense_Mutation_p.P1181S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1202					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCATGCTGGGATTGATGGCC	0.652													G|||	332	0.0662939	0.0514	0.0591	5008	,	,		16428	0.0169		0.0934	False		,,,				2504	0.1145				p.P1202S		Atlas-SNP	.											.	TNS1	251	.	0			c.C3604T						PASS	.	G	SER/PRO	208,4198	124.9+/-162.1	9,190,2004	53	55	54		3604	1.8	0.4	2	dbSNP_126	54	654,7946	161.9+/-214.7	27,600,3673	yes	missense	TNS1	NM_022648.4	74	36,790,5677	AA,AG,GG		7.6047,4.7208,6.6277	benign	1202/1736	218683139	862,12144	2203	4300	6503	SO:0001583	missense	7145	exon24			TGCTGGGATTGAT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3604C>T	2.37:g.218683139G>A	ENSP00000171887:p.Pro1202Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	77	30	0.38961	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	119	0.05448717948717949	9	0.018292682926829267	24	0.06629834254143646	12	0.02097902097902098	74	0.09762532981530343	G	2.490	-0.317753	0.05386	0.047208	0.076047	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91011	-2.76;2.24;-2.77;-2.77	4.61	1.8	0.24995	.	0.745176	0.12454	N	0.467518	T	0.13372	0.0324	L	0.43152	1.355	0.09310	P	0.9999999999958005	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.52749	-0.8534	9	0.10636	T	0.68	.	4.9661	0.14091	0.1568:0.0:0.4276:0.4157	rs34291329	1202;1181;1189	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1202;340;1189;1181	ENSP00000171887:P1202S;ENSP00000394171:P340S;ENSP00000408724:P1189S;ENSP00000406016:P1181S	ENSP00000171887:P1202S	P	-	1	0	TNS1	218391384	0.275000	0.24201	0.363000	0.25875	0.806000	0.45545	0.330000	0.19715	0.190000	0.20209	0.563000	0.77884	CCC	G|0.932;A|0.068	0.068	strong		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218683139	G	A	218683139	3	1	22	1	0	0	0	0	1	0	0	0	16340	1174	41	2	1643	2	TNS1	2	218683139	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	368	218683139	24516234	1791	6899										
TNS1	7145	hgsc.bcm.edu	37	chr2	218683154	218683154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgggattgatggcccgccAgccgaagccaggactagggg	17	11	0	1	rs2571445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218683154A>G	ENST00000171887.4	-	24	4041	c.3589T>C	c.(3589-3591)Tgg>Cgg	p.W1197R	TNS1_ENST00000419504.1_Missense_Mutation_p.W1184R|TNS1_ENST00000430930.1_Missense_Mutation_p.W1176R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1197			W -> R (in dbSNP:rs2571445). {ECO:0000269|PubMed:11023826, ECO:0000269|PubMed:18088087, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231}.		cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATGGCCCGCCAGCCGAAGCCA	0.632													G|||	3300	0.658946	0.8351	0.6167	5008	,	,		16545	0.621		0.5905	False		,,,				2504	0.5603				p.W1197R		Atlas-SNP	.											.	TNS1	251	.	0			c.T3589C						PASS	.	G	ARG/TRP	3530,876	334.1+/-303.3	1408,714,81	53	58	56	http://www.ncbi.nlm.nih.gov/pubmed?term	3589	3.7	0.9	2	dbSNP_100	56	5284,3316	484.0+/-371.3	1631,2022,647	yes	missense	TNS1	NM_022648.4	101	3039,2736,728	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	38.5581,19.882,32.2313	benign	1197/1736	218683154	8814,4192	2203	4300	6503	SO:0001583	missense	7145	exon24			CCCGCCAGCCGAA	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3589T>C	2.37:g.218683154A>G	ENSP00000171887:p.Trp1197Arg	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	1443	0.6607142857142857	401	0.8150406504065041	230	0.6353591160220995	354	0.6188811188811189	458	0.604221635883905	G	0.067	-1.210360	0.01555	0.80118	0.614419	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.89746	-2.55;2.52;-2.55;-2.56	4.61	3.71	0.42584	.	0.371203	0.23941	N	0.043060	T	0.00012	0.0000	N	0.00583	-1.355	0.09310	P	0.9999999999999779	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42447	-0.9451	9	0.07482	T	0.82	.	7.287	0.26344	0.0778:0.0:0.6235:0.2986	rs2571445;rs17732777;rs60680731;rs2571445	1197;1176;1184	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	1197;335;1184;1176	ENSP00000171887:W1197R;ENSP00000394171:W335R;ENSP00000408724:W1184R;ENSP00000406016:W1176R	ENSP00000171887:W1197R	W	-	1	0	TNS1	218391399	0.963000	0.33076	0.928000	0.36995	0.702000	0.40608	1.368000	0.34216	0.552000	0.29026	-0.213000	0.12676	TGG	A|0.321;G|0.679	0.679	strong		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218683154	A	G	218683154	3	3	22	1	0	0	0	0	1	0	0	0	16340	188	7	3	1658	3	TNS1	2	218683154	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15	218683154	24516219	1792	6900										
TNS1	7145	hgsc.bcm.edu	37	chr2	218683257	218683257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacactgaactgagctcgAgcctggctttccggagagga	13	12	0	3	rs2571442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218683257A>G	ENST00000171887.4	-	24	3938	c.3486T>C	c.(3484-3486)gcT>gcC	p.A1162A	TNS1_ENST00000419504.1_Silent_p.A1149A|TNS1_ENST00000430930.1_Silent_p.A1141A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1162					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACTGAGCTCGAGCCTGGCTTT	0.612													G|||	2016	0.402556	0.4977	0.4294	5008	,	,		18855	0.246		0.4066	False		,,,				2504	0.4121				p.A1162A		Atlas-SNP	.											.	TNS1	251	.	0			c.T3486C						PASS	.	G		2023,2383	612.3+/-391.9	468,1087,648	55	59	57		3486	0.2	0.9	2	dbSNP_100	57	3561,5039	627.6+/-398.0	749,2063,1488	no	coding-synonymous	TNS1	NM_022648.4		1217,3150,2136	GG,GA,AA		41.407,45.9147,42.934		1162/1736	218683257	5584,7422	2203	4300	6503	SO:0001819	synonymous_variant	7145	exon24			AGCTCGAGCCTGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3486T>C	2.37:g.218683257A>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	180	178	0.988889	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			T|0.000;G|0.418;A|0.582	0.418	strong		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218683257	A	G	218683257	2	3	22	1	0	0	0	0	0	0	0	1	16340	291	11	3		3	TNS1	2	218683257	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	103	218683257	24516116	1793	6901										
RUFY4	285180	hgsc.bcm.edu	37	chr2	218940259	218940259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagaggctgctgatgccCagccccagaggggctgtaga	15	12	0	4	rs7423696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218940259C>T	ENST00000344321.7	+	9	1562	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Silent_p.P368P|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	348							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTGATGCCCAGCCCCAGAG	0.617													C|||	1161	0.231829	0.034	0.3444	5008	,	,		16738	0.2312		0.3052	False		,,,				2504	0.3446				p.P348P		Atlas-SNP	.											.	RUFY4	59	.	0			c.C1044T						PASS	.	C		292,3696		15,262,1717	31	36	34		1044	2.8	0.1	2	dbSNP_116	34	2412,5996		348,1716,2140	no	coding-synonymous	RUFY4	NM_198483.3		363,1978,3857	TT,TC,CC		28.687,7.322,21.8135		348/572	218940259	2704,9692	1994	4204	6198	SO:0001819	synonymous_variant	285180	exon9			GATGCCCAGCCCC	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1044C>T	2.37:g.218940259C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	157	65	0.414013	NM_198483	Q6ZR96	Silent	SNP	ENST00000344321.7	37																																																																																				C|0.769;T|0.231	0.231	strong		0.617	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		T	218940259	C	T	218940259	2	4	22	1	0	0	0	0	0	0	0	1	13741	581	21	2		2	RUFY4	2	218940259	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	257002	218940259	24259114	1794	6902										
RUFY4	285180	hgsc.bcm.edu	37	chr2	218953991	218953991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagagaaggaccgcctgTggcagaggctccagcatctc	13	12	2	3	rs201137688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218953991T>G	ENST00000344321.7	+	12	2037	c.1519T>G	c.(1519-1521)Tgg>Ggg	p.W507G	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.W527G	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	507							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGACCGCCTGTGGCAGAGGCT	0.527													T|||	2	0.000399361	0.0	0.0	5008	,	,		19104	0.0		0.001	False		,,,				2504	0.001				p.W507G		Atlas-SNP	.											.	RUFY4	59	.	0			c.T1519G						PASS	.	T	GLY/TRP	3,3833		0,3,1915	48	50	49		1519	4.9	1	2		49	14,8270		0,14,4128	yes	missense	RUFY4	NM_198483.3	184	0,17,6043	GG,GT,TT		0.169,0.0782,0.1403	probably-damaging	507/572	218953991	17,12103	1918	4142	6060	SO:0001583	missense	285180	exon12			CGCCTGTGGCAGA	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1519T>G	2.37:g.218953991T>G	ENSP00000345900:p.Trp507Gly	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	183	74	0.404372	NM_198483	Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	T	16.23	3.064752	0.55432	7.82E-4	0.00169	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.66280	1.15;-0.2	4.92	4.92	0.64577	Zinc finger, FYVE/PHD-type (1);	0.000000	0.49305	D	0.000154	T	0.76842	0.4044	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75545	-0.3280	10	0.27082	T	0.32	-16.7446	10.8813	0.46939	0.0:0.0:0.0:1.0	.	507	Q6ZNE9	RUFY4_HUMAN	G	507;527	ENSP00000345900:W507G;ENSP00000363270:W527G	ENSP00000345900:W507G	W	+	1	0	RUFY4	218662236	1.000000	0.71417	0.962000	0.40283	0.771000	0.43674	3.616000	0.54174	2.079000	0.62486	0.454000	0.30748	TGG	T|0.999;G|0.001	0.001	weak		0.527	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		G	218953991	T	G	218953991	3	3	22	1	0	0	0	0	1	0	0	0	13741	1696	59	5	1557	5	RUFY4	2	218953991	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13732	218953991	24245382	1795	6903										
RUFY4	285180	hgsc.bcm.edu	37	chr2	218954716	218954716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgcttgctccatggattAcaagaagagagaccgctgct	10	11	0	3	rs116710266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218954716A>G	ENST00000344321.7	+	13	2173	c.1655A>G	c.(1654-1656)tAc>tGc	p.Y552C	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	552							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCATGGATTACAAGAAGAGA	0.632													A|||	70	0.0139776	0.0499	0.0058	5008	,	,		17641	0.0		0.0	False		,,,				2504	0.0				p.Y552C		Atlas-SNP	.											.	RUFY4	59	.	0			c.A1655G						PASS	.	A	CYS/TYR	158,3840		3,152,1844	37	44	42		1655	0.7	0.7	2	dbSNP_132	42	0,8322		0,0,4161	yes	missense	RUFY4	NM_198483.3	194	3,152,6005	GG,GA,AA		0.0,3.952,1.2825	probably-damaging	552/572	218954716	158,12162	1999	4161	6160	SO:0001583	missense	285180	exon13			TGGATTACAAGAA	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1655A>G	2.37:g.218954716A>G	ENSP00000345900:p.Tyr552Cys	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	280	153	0.546429	NM_198483	Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		35	0.016025641025641024	31	0.06300813008130081	4	0.011049723756906077	0	0.0	0	0.0	A	11.43	1.636570	0.29068	0.03952	0.0	ENSG00000188282	ENST00000344321	T	0.76709	-1.04	4.6	0.663	0.17885	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.17238	0.0414	M	0.68952	2.095	0.80722	D	1	P	0.46784	0.884	B	0.32342	0.144	T	0.47182	-0.9137	9	0.59425	D	0.04	.	1.8069	0.03082	0.5702:0.1707:0.0947:0.1644	.	552	Q6ZNE9	RUFY4_HUMAN	C	552	ENSP00000345900:Y552C	ENSP00000345900:Y552C	Y	+	2	0	RUFY4	218662961	0.997000	0.39634	0.740000	0.30986	0.070000	0.16714	0.369000	0.20416	0.249000	0.21456	-0.488000	0.04728	TAC	A|0.982;G|0.018	0.018	strong		0.632	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		G	218954716	A	G	218954716	3	3	22	1	0	0	0	0	1	0	0	0	13741	391	14	2	1697	2	RUFY4	2	218954716	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	725	218954716	24244657	1796	6904										
CXCR2	3579	hgsc.bcm.edu	37	chr2	218999798	218999798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctacctgctgaacctagccTtggccgacctactctttgcc	7	16	2	1	rs142747099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:218999798T>C	ENST00000318507.2	+	3	701	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	92					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GAACCTAGCCTTGGCCGACCT	0.567																																					p.L92L		Atlas-SNP	.											.	CXCR2	54	.	0			c.T274C						PASS	.	T	,	6,4400	11.4+/-27.6	0,6,2197	144	136	138		274,274	-0.1	0.8	2	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CXCR2	NM_001168298.1,NM_001557.3	,	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	,	92/361,92/361	218999798	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3579	exon4			CTAGCCTTGGCCG	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.274T>C	2.37:g.218999798T>C		Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	238	109	0.457983	NM_001168298	Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	CCDS2408.1																																																																																			T|0.999;C|0.001	0.001	strong		0.567	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		C	218999798	T	C	218999798	2	2	22	1	0	0	0	0	0	0	0	1	4091	1606	56	3		3	CXCR2	2	218999798	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45082	218999798	24199575	1797	6905										
CXCR2	3579	hgsc.bcm.edu	37	chr2	219000193	219000193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctttggcttcatcgtgccActgctgatcatgctgttctg	9	12	3	1	rs2228414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219000193A>G	ENST00000318507.2	+	3	1096	c.669A>G	c.(667-669)ccA>ccG	p.P223P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	223					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TCATCGTGCCACTGCTGATCA	0.562													G|||	66	0.0131789	0.0469	0.0058	5008	,	,		21834	0.0		0.0	False		,,,				2504	0.0				p.P223P		Atlas-SNP	.											.	CXCR2	54	.	0			c.A669G						PASS	.	G	,	167,4239	111.2+/-149.4	3,161,2039	174	159	164		669,669	-10.8	0	2	dbSNP_98	164	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CXCR2	NM_001168298.1,NM_001557.3	,	3,161,6339	GG,GA,AA		0.0,3.7903,1.284	,	223/361,223/361	219000193	167,12839	2203	4300	6503	SO:0001819	synonymous_variant	3579	exon4			CGTGCCACTGCTG	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.669A>G	2.37:g.219000193A>G		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	214	124	0.579439	NM_001168298	Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	CCDS2408.1																																																																																			A|0.985;G|0.015	0.015	strong		0.562	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		G	219000193	A	G	219000193	2	3	22	1	0	0	0	0	0	0	0	1	4091	146	6	2		2	CXCR2	2	219000193	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	395	219000193	24199180	1798	6906										
PNKD	25953	hgsc.bcm.edu	37	chr2	219205471	219205471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttccattgaaaaggaaggGgtcaccttggtcgccattct	11	10	2	1	rs34014804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219205471G>A	ENST00000273077.4	+	5	537	c.486G>A	c.(484-486)ggG>ggA	p.G162G	PNKD_ENST00000258362.3_Silent_p.G138G|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.G102G	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	162					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAAGGAAGGGGTCACCTTGG	0.602													G|||	257	0.0513179	0.0968	0.0591	5008	,	,		18777	0.005		0.0606	False		,,,				2504	0.0225				p.G162G		Atlas-SNP	.											.	PNKD	58	.	0			c.G486A						PASS	.	G	,	433,3973	209.5+/-230.2	20,393,1790	129	114	119		486,414	-10.2	0	2	dbSNP_126	119	423,8177	132.5+/-190.1	9,405,3886	no	coding-synonymous,coding-synonymous	PNKD	NM_015488.4,NM_022572.4	,	29,798,5676	AA,AG,GG		4.9186,9.8275,6.5816	,	162/386,138/362	219205471	856,12150	2203	4300	6503	SO:0001819	synonymous_variant	25953	exon5			GGAAGGGGTCACC		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.486G>A	2.37:g.219205471G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	124	67	0.540323	NM_015488	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	CCDS2411.1																																																																																			G|0.939;A|0.061	0.061	strong		0.602	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			A	219205471	G	A	219205471	2	1	22	1	0	0	0	0	0	0	0	1	12146	1219	43	2		2	PNKD	2	219205471	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205278	219205471	23993902	1799	6907										
PLCD4	84812	hgsc.bcm.edu	37	chr2	219483526	219483526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaccatcaggagcgcctgGaccagtatcggcaggatgga	15	10	1	0	rs200863393		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219483526G>C	ENST00000450993.2	+	4	745	c.406G>C	c.(406-408)Gac>Cac	p.D136H	PLCD4_ENST00000417849.1_Missense_Mutation_p.D136H|U3_ENST00000516996.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.D136H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	136	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGCGCCTGGACCAGTATCG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20288	0.0		0.001	False		,,,				2504	0.0				p.D136H		Atlas-SNP	.											.	PLCD4	51	.	0			c.G406C						PASS	.	G	HIS/ASP	0,4162		0,0,2081	18	18	18		406	4.9	1	2		18	2,8408		0,2,4203	yes	missense	PLCD4	NM_032726.3	81	0,2,6284	CC,CG,GG		0.0238,0.0,0.0159	probably-damaging	136/763	219483526	2,12570	2081	4205	6286	SO:0001583	missense	84812	exon4			CGCCTGGACCAGT	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.406G>C	2.37:g.219483526G>C	ENSP00000388631:p.Asp136His	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_032726	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.34	3.603570	0.66445	0.0	2.38E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.43688	0.94;0.94;0.94	4.89	4.89	0.63831	.	1.041430	0.07513	N	0.909165	T	0.69441	0.3111	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61063	-0.7138	10	0.51188	T	0.08	.	16.8055	0.85626	0.0:0.0:1.0:0.0	.	83;136	B4DN84;Q9BRC7	.;PLCD4_HUMAN	H	136	ENSP00000388631:D136H;ENSP00000396942:D136H;ENSP00000396185:D136H	ENSP00000251959:D136H	D	+	1	0	PLCD4	219191770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.473000	0.97714	2.553000	0.86117	0.655000	0.94253	GAC	G|1.000;C|0.000	0.000	strong		0.582	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			C	219483526	G	C	219483526	3	2	22	1	0	0	0	0	1	0	0	0	12033	1174	41	4	416	4	PLCD4	2	219483526	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	278055	219483526	23715847	1800	6908										
PLCD4	84812	hgsc.bcm.edu	37	chr2	219492924	219492924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagtgggggaccagctttgTggccagagcagcgtcgaggg	18	9	0	1	rs612874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219492924T>C	ENST00000450993.2	+	7	1284	c.945T>C	c.(943-945)tgT>tgC	p.C315C	PLCD4_ENST00000417849.1_Silent_p.C315C|PLCD4_ENST00000432688.1_Silent_p.C315C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	315	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCAGCTTTGTGGCCAGAGCA	0.532													T|||	2549	0.508986	0.0711	0.5879	5008	,	,		20994	0.7827		0.5934	False		,,,				2504	0.6759				p.C315C		Atlas-SNP	.											.	PLCD4	51	.	0			c.T945C						PASS	.	T		635,3433		57,521,1456	152	146	148		945	0.8	1	2	dbSNP_83	148	4788,3576		1396,1996,790	no	coding-synonymous	PLCD4	NM_032726.3		1453,2517,2246	CC,CT,TT		42.7547,15.6096,43.6213		315/763	219492924	5423,7009	2034	4182	6216	SO:0001819	synonymous_variant	84812	exon7			GCTTTGTGGCCAG	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.945T>C	2.37:g.219492924T>C		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	133	77	0.578947	NM_032726	Q53FS8	Silent	SNP	ENST00000450993.2	37	CCDS46516.1																																																																																			T|0.503;C|0.497	0.497	strong		0.532	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			C	219492924	T	C	219492924	2	2	22	1	0	0	0	0	0	0	0	1	12033	1702	59	2		2	PLCD4	2	219492924	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9398	219492924	23706449	1801	6909										
ZNF142	7701	hgsc.bcm.edu	37	chr2	219508988	219508988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggggattttcttcagcacTcaagtcagaagtcccaatac	8	10	4	1	rs3770214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219508988T>C	ENST00000449707.1	-	8	2672	c.2251A>G	c.(2251-2253)Agt>Ggt	p.S751G	ZNF142_ENST00000411696.2_Missense_Mutation_p.S751G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	751			S -> G (in dbSNP:rs3770214). {ECO:0000269|PubMed:9039502}.		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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTTCAGCACTCAAGTCAGAA	0.517													C|||	3830	0.764776	0.8139	0.6614	5008	,	,		19851	0.9425		0.6223	False		,,,				2504	0.7352				p.S751G	Colon(170;867 1942 8995 15834 18053)	Atlas-SNP	.											.	ZNF142	190	.	0			c.A2251G						PASS	.	C	GLY/SER	3033,767		1204,625,71	81	82	82		2251	1.4	0.2	2	dbSNP_107	82	5115,3135		1614,1887,624	yes	missense	ZNF142	NM_001105537.1	56	2818,2512,695	CC,CT,TT		38.0,20.1842,32.3817	benign	751/1688	219508988	8148,3902	1900	4125	6025	SO:0001583	missense	7701	exon8			CAGCACTCAAGTC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2251A>G	2.37:g.219508988T>C	ENSP00000408643:p.Ser751Gly	Somatic	309	0	0		WXS	Illumina HiSeq	Phase_I	314	313	0.996815	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	1632	0.7472527472527473	376	0.7642276422764228	245	0.6767955801104972	536	0.9370629370629371	475	0.6266490765171504	C	0.015	-1.542824	0.00934	0.798158	0.62	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.10860	2.83;2.83	5.22	1.43	0.22495	.	1.094520	0.06675	N	0.766992	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13522	-1.0506	9	0.12103	T	0.63	-17.9691	5.8407	0.18633	0.0:0.4854:0.1291:0.3855	rs3770214;rs17573037;rs52805913;rs59219307;rs3770214	751;588	P52746;A8MWU9	ZN142_HUMAN;.	G	751	ENSP00000408643:S751G;ENSP00000398798:S751G	ENSP00000398798:S751G	S	-	1	0	ZNF142	219217232	0.000000	0.05858	0.199000	0.23439	0.549000	0.35272	0.037000	0.13840	-0.103000	0.12175	-0.733000	0.03571	AGT	C|0.742;N|0.000	0.742	strong		0.517	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		C	219508988	T	C	219508988	3	2	22	1	0	0	0	0	1	0	0	0	17728	1551	54	3	2824	3	ZNF142	2	219508988	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16064	219508988	23690385	1802	6910										
ZNF142	7701	hgsc.bcm.edu	37	chr2	219515109	219515109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctgagccccttggccttTatccacagccttttgggagt	10	14	0	1	rs61733648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219515109T>G	ENST00000449707.1	-	5	842	c.421A>C	c.(421-423)Aaa>Caa	p.K141Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.K141Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	141					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTTGGCCTTTATCCACAGCC	0.527													T|||	67	0.0133786	0.0492	0.0029	5008	,	,		19332	0.0		0.0	False		,,,				2504	0.0				p.K141Q	Colon(170;867 1942 8995 15834 18053)	Atlas-SNP	.											.	ZNF142	190	.	0			c.A421C						PASS	.	T	GLN/LYS	162,3762		0,162,1800	230	233	232		421	4.1	0	2	dbSNP_129	232	1,8297		0,1,4148	yes	missense	ZNF142	NM_001105537.1	53	0,163,5948	GG,GT,TT		0.0121,4.1284,1.3337	possibly-damaging	141/1688	219515109	163,12059	1962	4149	6111	SO:0001583	missense	7701	exon5			GGCCTTTATCCAC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.421A>C	2.37:g.219515109T>G	ENSP00000408643:p.Lys141Gln	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	191	96	0.502618	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	T	8.836	0.941010	0.18281	0.041284	1.21E-4	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12984	2.63;2.63	5.2	4.05	0.47172	.	0.711144	0.13741	N	0.365968	T	0.02193	0.0068	L	0.44542	1.39	0.09310	N	1	P	0.39282	0.666	B	0.35859	0.212	T	0.21999	-1.0229	10	0.21014	T	0.42	-0.251	7.4012	0.26965	0.0:0.0962:0.0:0.9038	.	141	P52746	ZN142_HUMAN	Q	141	ENSP00000408643:K141Q;ENSP00000398798:K141Q	ENSP00000398798:K141Q	K	-	1	0	ZNF142	219223353	0.172000	0.23043	0.048000	0.18961	0.098000	0.18820	1.797000	0.38804	1.011000	0.39340	0.533000	0.62120	AAA	T|0.990;G|0.010	0.010	strong		0.527	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		G	219515109	T	G	219515109	3	3	22	1	0	0	0	0	1	0	0	0	17728	1763	61	5	4666	5	ZNF142	2	219515109	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6121	219515109	23684264	1803	6911										
STK36	27148	hgsc.bcm.edu	37	chr2	219561778	219561778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagcaggggaaggctagccTaatcagggatatgtccagtt	13	8	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219561778T>C	ENST00000295709.3	+	23	2882	c.2603T>C	c.(2602-2604)cTa>cCa	p.L868P	STK36_ENST00000392106.2_Missense_Mutation_p.L847P|STK36_ENST00000440309.1_Missense_Mutation_p.L868P|STK36_ENST00000392105.3_Missense_Mutation_p.L847P	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGCTAGCCTAATCAGGGAT	0.517																																					p.L868P		Atlas-SNP	.											STK36,right_upper_lobe,carcinoma,-1,1	STK36	111	1	0			c.T2603C						scavenged	.						179	193	188					2																	219561778		2203	4300	6503	SO:0001583	missense	27148	exon23			CTAGCCTAATCAG	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2603T>C	2.37:g.219561778T>C	ENSP00000295709:p.Leu868Pro	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	106	2	0.0188679	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.947|4.947	0.175950|0.175950	0.09443|0.09443	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.74947|.	-0.66;-0.76;-0.89;-0.66|.	4.91|4.91	3.72|3.72	0.42706|0.42706	.|.	0.547095|.	0.14203|.	N|.	0.334579|.	T|.	0.24699|.	0.0599|.	N|N	0.19112|0.19112	0.55|0.55	0.24723|0.24723	N|N	0.993134|0.993134	B;B;B|.	0.09022|.	0.002;0.001;0.001|.	B;B;B|.	0.08055|.	0.002;0.003;0.001|.	T|.	0.19516|.	-1.0303|.	10|.	0.51188|.	T|.	0.08|.	-2.2083|-2.2083	8.1141|8.1141	0.30933|0.30933	0.0:0.101:0.0:0.899|0.0:0.101:0.0:0.899	.|.	847;847;868|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	P|Q	868;847;847;868|61	ENSP00000295709:L868P;ENSP00000375955:L847P;ENSP00000375954:L847P;ENSP00000394095:L868P|.	ENSP00000295709:L868P|.	L|X	+|+	2|1	0|0	STK36|STK36	219270022|219270022	0.298000|0.298000	0.24417|0.24417	0.593000|0.593000	0.28771|0.28771	0.003000|0.003000	0.03518|0.03518	0.643000|0.643000	0.24750|0.24750	0.847000|0.847000	0.35167|0.35167	0.533000|0.533000	0.62120|0.62120	CTA|TAA	.	.	none		0.517	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			C	219561778	T	C	219561778	3	2	22	1	0	0	0	0	1	0	0	0	15301	1522	53	3	2689	3	STK36	2	219561778	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46669	219561778	23637595	1804	6912										
CYP27A1	1593	hgsc.bcm.edu	37	chr2	219674482	219674482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgacctgacctatgggccGttcaccacgtgagctggggc	13	14	1	2	rs692003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219674482G>A	ENST00000258415.4	+	2	865	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	146					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CCTATGGGCCGTTCACCACGT	0.622													G|||	366	0.0730831	0.2632	0.0259	5008	,	,		16942	0.0		0.0	False		,,,				2504	0.0				p.P146P		Atlas-SNP	.											.	CYP27A1	52	.	0			c.G438A						PASS	.	G		877,3529	341.2+/-306.6	84,709,1410	90	78	82		438	2.9	0.9	2	dbSNP_83	82	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous	CYP27A1	NM_000784.3		84,717,5702	AA,AG,GG		0.093,19.9047,6.8046		146/532	219674482	885,12121	2203	4300	6503	SO:0001819	synonymous_variant	1593	exon2			TGGGCCGTTCACC	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.438G>A	2.37:g.219674482G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	73	32	0.438356	NM_000784	A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	CCDS2423.1																																																																																			G|0.935;A|0.065	0.065	strong		0.622	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			A	219674482	G	A	219674482	2	1	22	1	0	0	0	0	0	0	0	1	4158	1132	40	1		1	CYP27A1	2	219674482	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112704	219674482	23524891	1805	6913										
PRKAG3	53632	hgsc.bcm.edu	37	chr2	219691801	219691801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggtagaggaaggagggccGgggcagcagggaaccctggt	21	8	0	1	rs33985460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219691801G>A	ENST00000529249.1	-	10	1333	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R156W|PRKAG3_ENST00000392098.3_Silent_p.P324P|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R315W			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	340	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.		R -> Q. {ECO:0000269|PubMed:17878938}.|R -> W (in dbSNP:rs33985460). {ECO:0000269|PubMed:17878938}.		cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AAGGAGGGCCGGGGCAGCAGG	0.607													G|||	154	0.0307508	0.0038	0.0432	5008	,	,		18697	0.0		0.0606	False		,,,				2504	0.0593				p.R340W		Atlas-SNP	.											.	PRKAG3	47	.	0			c.C1018T						PASS	.	G	TRP/ARG	53,4353	54.2+/-90.2	0,53,2150	92	96	95		1018	3.8	1	2	dbSNP_126	95	493,8107	142.5+/-198.7	10,473,3817	yes	missense	PRKAG3	NM_017431.2	101	10,526,5967	AA,AG,GG		5.7326,1.2029,4.1981	possibly-damaging	340/490	219691801	546,12460	2203	4300	6503	SO:0001583	missense	53632	exon10			AGGGCCGGGGCAG	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1018C>T	2.37:g.219691801G>A	ENSP00000436068:p.Arg340Trp	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	60	0.027472527472527472	3	0.006097560975609756	10	0.027624309392265192	0	0.0	47	0.06200527704485488	G	22.0	4.227310	0.79576	0.012029	0.057326	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.88046	-1.64;-2.33;-1.63	5.77	3.79	0.43588	Cystathionine beta-synthase, core (1);	0.342203	0.34046	N	0.004318	T	0.49525	0.1562	L	0.38175	1.15	0.80722	D	1	D	0.64830	0.994	P	0.53360	0.724	T	0.74396	-0.3679	10	0.62326	D	0.03	-7.7995	13.4251	0.61020	0.0:0.0:0.5987:0.4013	rs33985460	340	Q9UGI9	AAKG3_HUMAN	W	315;156;340	ENSP00000397133:R315W;ENSP00000444536:R156W;ENSP00000436068:R340W	ENSP00000233944:R340W	R	-	1	2	PRKAG3	219400045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.596000	0.61055	1.440000	0.47531	0.655000	0.94253	CGG	G|0.961;A|0.039	0.039	strong		0.607	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			A	219691801	G	A	219691801	3	1	22	1	0	0	0	0	1	0	0	0	12502	1115	39	1	467	1	PRKAG3	2	219691801	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17319	219691801	23507572	1806	6914										
FEV	54738	hgsc.bcm.edu	37	chr2	219846749	219846749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcggtaggcgtagcgcttGccatgcaccttgctcatgat	12	11	1	1	rs860573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219846749G>A	ENST00000295727.1	-	3	938	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	119					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|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)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		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)		CGTAGCGCTTGCCATGCACCT	0.677			T	"EWSR1,  FUS"	Ewing sarcoma								g|||	726	0.144968	0.2723	0.0432	5008	,	,		9822	0.1379		0.0219	False		,,,				2504	0.1789				p.G119G	NSCLC(198;941 2228 4658 24163 34665)	Atlas-SNP	.		Dom	yes		2	2q36	54738	FEV protein - (HSRNAFEV)		M	.	FEV	10	.	0			c.C357T						PASS	.			920,3486	349.5+/-310.4	92,736,1375	104	70	82		357	2.5	1	2	dbSNP_86	82	109,8491	57.2+/-118.5	1,107,4192	no	coding-synonymous	FEV	NM_017521.2		93,843,5567	AA,AG,GG		1.2674,20.8806,7.9117		119/239	219846749	1029,11977	2203	4300	6503	SO:0001819	synonymous_variant	54738	exon3			GCGCTTGCCATGC		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"FEV (fifth Ewing variant)"			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.357C>T	2.37:g.219846749G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	88	50	0.568182	NM_017521		Silent	SNP	ENST00000295727.1	37	CCDS2428.1																																																																																			G|0.902;A|0.098	0.098	strong		0.677	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			A	219846749	G	A	219846749	2	1	22	1	0	0	0	0	0	0	0	1	5822	1306	46	2		2	FEV	2	219846749	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	154948	219846749	23352624	1807	6915										
CCDC108	255101	hgsc.bcm.edu	37	chr2	219895548	219895548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgctcaccagcagctgggCgcacttggctggggcagaga	15	11	1	1	rs56411706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219895548C>A	ENST00000341552.5	-	9	1107	c.1024G>T	c.(1024-1026)Gcc>Tcc	p.A342S	CCDC108_ENST00000410037.1_Missense_Mutation_p.A277S|CCDC108_ENST00000453220.1_Missense_Mutation_p.A342S|CCDC108_ENST00000409865.3_Missense_Mutation_p.A331S|CCDC108_ENST00000441968.1_Missense_Mutation_p.A342S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	342						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGCTGGGCGCACTTGGCT	0.637													C|||	858	0.171326	0.3222	0.1066	5008	,	,		15229	0.1726		0.0964	False		,,,				2504	0.089				p.A342S		Atlas-SNP	.											.	CCDC108	208	.	0			c.G1024T						PASS	.	C	SER/ALA	1234,3172	418.3+/-338.2	173,888,1142	38	40	39		1024	2	0.9	2	dbSNP_129	39	849,7751	193.2+/-239.0	37,775,3488	yes	missense	CCDC108	NM_194302.2	99	210,1663,4630	AA,AC,CC		9.8721,28.0073,16.0157	possibly-damaging	342/1926	219895548	2083,10923	2203	4300	6503	SO:0001583	missense	255101	exon9			GCTGGGCGCACTT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1024G>T	2.37:g.219895548C>A	ENSP00000340776:p.Ala342Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	97	50	0.515464	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	358	0.16391941391941392	149	0.30284552845528456	37	0.10220994475138122	99	0.17307692307692307	73	0.09630606860158311	C	11.61	1.689268	0.29962	0.280073	0.098721	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.06449	3.57;3.57;3.57;3.3;3.31	4.97	1.99	0.26369	.	0.318910	0.22850	N	0.054861	T	0.00012	0.0000	L	0.55481	1.735	0.09310	P	1.0	P;P	0.39535	0.677;0.677	B;B	0.41374	0.355;0.355	T	0.51371	-0.8714	9	0.23302	T	0.38	-17.5074	9.2326	0.37446	0.0:0.3853:0.5221:0.0925	rs56411706	331;342	E9PG25;Q6ZU64	.;CC108_HUMAN	S	342;342;342;331;277;276	ENSP00000340776:A342S;ENSP00000413377:A342S;ENSP00000409117:A342S;ENSP00000386945:A331S;ENSP00000386258:A277S	ENSP00000340776:A342S	A	-	1	0	CCDC108	219603792	0.118000	0.22208	0.898000	0.35279	0.492000	0.33523	0.250000	0.18235	0.654000	0.30846	-0.259000	0.10710	GCC	C|0.847;A|0.153	0.153	strong		0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219895548	C	A	219895548	3	1	22	1	0	0	0	0	1	0	0	0	2743	768	27	4	4861	4	CCDC108	2	219895548	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48799	219895548	23303825	1808	6916										
IHH	3549	hgsc.bcm.edu	37	chr2	219920565	219920565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcagggaagcagccgccCgtcttggctgcggccgagtg	17	14	1	0	rs3731878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:219920565C>T	ENST00000295731.6	-	3	599	c.600G>A	c.(598-600)acG>acA	p.T200T	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	200					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGCCGCCCGTCTTGGCTG	0.672													C|||	551	0.110024	0.1104	0.0951	5008	,	,		16118	0.1617		0.0865	False		,,,				2504	0.091				p.T200T		Atlas-SNP	.											.	IHH	33	.	0			c.G600A						PASS	.	C		421,3975		30,361,1807	16	18	18		600	-5.4	1	2	dbSNP_107	18	670,7918		28,614,3652	no	coding-synonymous	IHH	NM_002181.3		58,975,5459	TT,TC,CC		7.8016,9.5769,8.4026		200/412	219920565	1091,11893	2198	4294	6492	SO:0001819	synonymous_variant	3549	exon3			GCCGCCCGTCTTG	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.600G>A	2.37:g.219920565C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	48	27	0.5625	NM_002181	B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	CCDS33380.1																																																																																			C|0.902;T|0.098	0.098	strong		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		T	219920565	C	T	219920565	2	4	22	1	0	0	0	0	0	0	0	1	7607	639	23	1		1	IHH	2	219920565	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25017	219920565	23278808	1809	6917										
ANKZF1	55139	hgsc.bcm.edu	37	chr2	220097257	220097257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagactcagactcagccaGtgaggaggacttgcagacac	12	10	2	5	rs61747682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220097257G>C	ENST00000323348.5	+	5	584	c.410G>C	c.(409-411)aGt>aCt	p.S137T	ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ANKZF1_ENST00000409849.1_5'UTR|ATG9A_ENST00000396761.2_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.S137T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	137						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCAGCCAGTGAGGAGGAC	0.488													g|||	261	0.0521166	0.0998	0.0115	5008	,	,		20738	0.0893		0.0179	False		,,,				2504	0.0133				p.S137T		Atlas-SNP	.											.	ANKZF1	45	.	0			c.G410C						PASS	.	G	THR/SER,THR/SER	392,3474		23,346,1564	66	68	68		410,410	2.6	1	2	dbSNP_129	68	91,8165		0,91,4037	yes	missense,missense	ANKZF1	NM_001042410.1,NM_018089.2	58,58	23,437,5601	CC,CG,GG		1.1022,10.1397,3.9845	possibly-damaging,possibly-damaging	137/727,137/727	220097257	483,11639	1933	4128	6061	SO:0001583	missense	55139	exon5			CAGCCAGTGAGGA	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.410G>C	2.37:g.220097257G>C	ENSP00000321617:p.Ser137Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	117	69	0.589744	NM_001042410	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	126	0.057692307692307696	48	0.0975609756097561	5	0.013812154696132596	59	0.10314685314685315	14	0.018469656992084433	G	12.96	2.094842	0.36952	0.101397	0.011022	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034;ENST00000447157	T;T	0.29917	1.55;1.55	5.53	2.64	0.31445	.	0.404321	0.32287	N	0.006307	T	0.00695	0.0023	M	0.63843	1.955	0.35399	P	0.20854399999999995	B;B	0.25809	0.135;0.083	B;B	0.24701	0.055;0.025	T	0.09684	-1.0663	9	0.22109	T	0.4	-1.5062	10.0904	0.42443	0.0718:0.2607:0.6675:0.0	rs61747682	81;137	B4DZT1;Q9H8Y5	.;ANKZ1_HUMAN	T	137;72;137;137	ENSP00000321617:S137T;ENSP00000386337:S137T	ENSP00000321617:S137T	S	+	2	0	ANKZF1	219805501	0.845000	0.29573	1.000000	0.80357	0.988000	0.76386	1.130000	0.31393	1.546000	0.49388	0.655000	0.94253	AGT	G|0.960;C|0.040	0.040	strong		0.488	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		C	220097257	G	C	220097257	3	2	22	1	0	0	0	0	1	0	0	0	693	1029	36	4	424	4	ANKZF1	2	220097257	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	176692	220097257	23102116	1810	6918										
PTPRN	5798	hgsc.bcm.edu	37	chr2	220164886	220164886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggcacctgctggacttcActggaggtagggctggcagt	15	10	1	0	rs35314717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220164886A>C	ENST00000295718.2	-	9	1497	c.1257T>G	c.(1255-1257)agT>agG	p.S419R	PTPRN_ENST00000409251.3_Missense_Mutation_p.S419R|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.S329R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	419			S -> R (in dbSNP:rs35314717).		cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCTGGACTTCACTGGAGGTAG	0.627													A|||	162	0.0323482	0.1172	0.0101	5008	,	,		16965	0.0		0.0	False		,,,				2504	0.0				p.S419R		Atlas-SNP	.											.	PTPRN	138	.	0			c.T1257G						PASS	.	A	ARG/SER,ARG/SER,ARG/SER	475,3931	223.9+/-240.3	29,417,1757	67	76	73		1257,987,1257	-2.4	0	2	dbSNP_126	73	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	110,110,110	29,423,6051	CC,CA,AA		0.0698,10.7808,3.6983	benign,benign,benign	419/951,329/890,419/980	220164886	481,12525	2203	4300	6503	SO:0001583	missense	5798	exon9			GACTTCACTGGAG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1257T>G	2.37:g.220164886A>C	ENSP00000295718:p.Ser419Arg	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	89	53	0.595506	NM_002846	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	63	0.028846153846153848	61	0.12398373983739837	2	0.0055248618784530384	0	0.0	0	0.0	A	4.756	0.140493	0.09083	0.107808	6.98E-4	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.27104	1.69;1.69;1.69	4.27	-2.38	0.06622	.	1.386960	0.04458	N	0.373874	T	0.00210	0.0006	N	0.24115	0.695	0.80722	P	0.0	B;B	0.23735	0.09;0.09	B;B	0.21360	0.034;0.015	T	0.23619	-1.0183	9	0.16420	T	0.52	.	7.6045	0.28095	0.276:0.1662:0.5578:0.0	rs35314717;rs60827710	419;419	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	419;419;419;329	ENSP00000386638:S419R;ENSP00000295718:S419R;ENSP00000444244:S329R	ENSP00000295718:S419R	S	-	3	2	PTPRN	219873130	0.000000	0.05858	0.001000	0.08648	0.379000	0.30106	-0.764000	0.04735	-0.686000	0.05170	0.459000	0.35465	AGT	A|0.966;C|0.034	0.034	strong		0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			C	220164886	A	C	220164886	3	2	22	1	0	0	0	0	1	0	0	0	12807	156	6	5	1742	5	PTPRN	2	220164886	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67629	220164886	23034487	1811	6919										
DNPEP	23549	hgsc.bcm.edu	37	chr2	220250769	220250769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgtgggatgcgaagaaTgggccgctccacgtgcacca	15	11	0	1	rs6742404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220250769T>C	ENST00000273075.4	-	6	731	c.511A>G	c.(511-513)Att>Gtt	p.I171V	DNPEP_ENST00000523282.1_Missense_Mutation_p.I179V|AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000373972.1_Missense_Mutation_p.I96V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	161					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCGAAGAATGGGCCGCTCC	0.627													T|||	134	0.0267572	0.0961	0.0101	5008	,	,		19551	0.0		0.0	False		,,,				2504	0.0				p.I171V		Atlas-SNP	.											.	DNPEP	40	.	0			c.A511G						PASS	.	T	VAL/ILE	385,3907		26,333,1787	83	94	90		511	3.7	1	2	dbSNP_116	90	1,8519		0,1,4259	yes	missense	DNPEP	NM_012100.2	29	26,334,6046	CC,CT,TT		0.0117,8.9702,3.0128	benign	171/486	220250769	386,12426	2146	4260	6406	SO:0001583	missense	23549	exon6			GAAGAATGGGCCG		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.511A>G	2.37:g.220250769T>C	ENSP00000273075:p.Ile171Val	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	210	111	0.528571	NM_012100	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1	43	0.019688644688644688	41	0.08333333333333333	2	0.0055248618784530384	0	0.0	0	0.0	T	12.99	2.104829	0.37145	0.089702	1.17E-4	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	4.87	3.71	0.42584	Peptidase M18, domain 2 (1);	0.138463	0.51477	D	0.000095	T	0.03477	0.0100	L	0.46614	1.455	0.49798	D	0.999821	B;B;B;B;B	0.21606	0.005;0.058;0.033;0.005;0.002	B;B;B;B;B	0.24269	0.033;0.052;0.052;0.015;0.02	T	0.04017	-1.0984	9	0.49607	T	0.09	-6.0541	10.134	0.42695	0.0:0.0791:0.0:0.9209	rs6742404	179;171;179;161;171	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	V	171;171;96;179;64;179;157;171;171;96;96	.	ENSP00000273075:I171V	I	-	1	0	DNPEP	219959013	0.580000	0.26733	0.998000	0.56505	0.850000	0.48378	0.182000	0.16900	0.718000	0.32166	0.459000	0.35465	ATT	T|0.962;C|0.038	0.038	strong		0.627	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		C	220250769	T	C	220250769	3	2	22	1	0	0	0	0	1	0	0	0	4679	1464	51	2	986	2	DNPEP	2	220250769	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85883	220250769	22948604	1812	6920										
DES	1674	hgsc.bcm.edu	37	chr2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcttcctccccaggtcGtcagtgaggccacacagcag	9	16	2	1	rs73991549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220290674G>A	ENST00000373960.3	+	9	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	459	Tail.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.V459I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607													G|||	49	0.00978435	0.0325	0.0072	5008	,	,		19604	0.0		0.001	False		,,,				2504	0.0				p.V459I		Atlas-SNP	.											DES,brain,glioma,0,2	DES	53	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G1375A	GRCh37	CM070889	DES	M	rs73991549	PASS	.	G	ILE/VAL	157,4249	107.3+/-145.7	2,153,2048	173	151	158		1375	4.2	1	2	dbSNP_130	158	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DES	NM_001927.3	29	2,154,6347	AA,AG,GG		0.0116,3.5633,1.2148	benign	459/471	220290674	158,12848	2203	4300	6503	SO:0001583	missense	1674	exon9			CAGGTCGTCAGTG	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1375G>A	2.37:g.220290674G>A	ENSP00000363071:p.Val459Ile	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	CCDS33383.1	14	0.00641025641025641	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	8.078	0.771762	0.16051	0.035633	1.16E-4	ENSG00000175084	ENST00000373960	D	0.96913	-4.17	5.17	4.23	0.50019	.	0.000000	0.35207	N	0.003373	T	0.77572	0.4150	L	0.41961	1.31	0.39176	D	0.962688	P	0.36587	0.559	B	0.31547	0.132	D	0.86120	0.1568	10	0.06891	T	0.86	.	13.8879	0.63719	0.0:0.1537:0.8463:0.0	.	459	P17661	DESM_HUMAN	I	459	ENSP00000363071:V459I	ENSP00000363071:V459I	V	+	1	0	DES	219998918	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	7.003000	0.76310	2.409000	0.81822	0.655000	0.94253	GTC	G|0.989;A|0.011	0.011	strong		0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		A	220290674	G	A	220290674	3	1	22	1	0	0	0	0	1	0	0	0	4449	1145	40	1	1409	1	DES	2	220290674	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39905	220290674	22908699	1813	6921										
SPEG	10290	hgsc.bcm.edu	37	chr2	220315970	220315970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcagatgtgctgctcaaGtgtatcatcactgccaaccc	11	12	3	1	rs10932806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220315970G>A	ENST00000312358.7	+	5	2358	c.2226G>A	c.(2224-2226)aaG>aaA	p.K742K	SPEG_ENST00000396698.1_Silent_p.K638K|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	742	Ig-like 2.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCTCAAGTGTATCATCA	0.622													G|||	2165	0.432308	0.1392	0.4914	5008	,	,		16324	0.6716		0.5119	False		,,,				2504	0.4581				p.K742K		Atlas-SNP	.											.	SPEG	272	.	0			c.G2226A						PASS	.	G		781,3281		94,593,1344	61	64	63		2226	4.2	1	2	dbSNP_120	63	4290,4032		1099,2092,970	no	coding-synonymous	SPEG	NM_005876.4		1193,2685,2314	AA,AG,GG		48.4499,19.227,40.948		742/3268	220315970	5071,7313	2031	4161	6192	SO:0001819	synonymous_variant	10290	exon5			GCTCAAGTGTATC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2226G>A	2.37:g.220315970G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	87	47	0.54023	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																			G|0.544;A|0.456	0.456	strong		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220315970	G	A	220315970	2	1	22	1	0	0	0	0	0	0	0	1	15035	1020	36	2		2	SPEG	2	220315970	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25296	220315970	22883403	1814	6922										
SPEG	10290	hgsc.bcm.edu	37	chr2	220347907	220347907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcgggtgtgggtgaccAtgcccagaaggccacccccc	14	15	0	3	rs200747365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220347907A>G	ENST00000312358.7	+	30	5854	c.5722A>G	c.(5722-5724)Atg>Gtg	p.M1908V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1908					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGGGTGACCATGCCCAGAAG	0.672													A|||	9	0.00179712	0.0053	0.0029	5008	,	,		14834	0.0		0.0	False		,,,				2504	0.0				p.M1908V		Atlas-SNP	.											.	SPEG	272	.	0			c.A5722G						PASS	.	A	VAL/MET	26,3634		0,26,1804	8	10	9		5722	2.7	1	2		9	0,8058		0,0,4029	no	missense	SPEG	NM_005876.4	21	0,26,5833	GG,GA,AA		0.0,0.7104,0.2219	benign	1908/3268	220347907	26,11692	1830	4029	5859	SO:0001583	missense	10290	exon30			GTGACCATGCCCA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5722A>G	2.37:g.220347907A>G	ENSP00000311684:p.Met1908Val	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	8.935	0.964345	0.18583	0.007104	0.0	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.59772	0.24	4.75	2.74	0.32292	Protein kinase-like domain (1);	0.410582	0.17489	N	0.172415	T	0.11367	0.0277	N	0.00377	-1.585	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26018	-1.0115	10	0.02654	T	1	.	5.4349	0.16476	0.3428:0.0:0.6572:0.0	.	1908	Q15772	SPEG_HUMAN	V	1908	ENSP00000311684:M1908V	ENSP00000265327:M1908V	M	+	1	0	SPEG	220056151	0.991000	0.36638	0.999000	0.59377	0.966000	0.64601	2.141000	0.42168	0.456000	0.26937	0.374000	0.22700	ATG	A|1.000;G|0.000	0.000	strong		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		G	220347907	A	G	220347907	3	3	22	1	0	0	0	0	1	0	0	0	15035	217	8	2	5852	2	SPEG	2	220347907	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31937	220347907	22851466	1815	6923										
GMPPA	29926	hgsc.bcm.edu	37	chr2	220370746	220370746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggggtgaccgtgggtgaGggtgtgcggctccgggagag	23	6	0	3	rs13428617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220370746G>A	ENST00000358215.3	+	11	1314	c.945G>A	c.(943-945)gaG>gaA	p.E315E	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.E315E|GMPPA_ENST00000373917.3_Silent_p.E368E|GMPPA_ENST00000313597.5_Silent_p.E315E|GMPPA_ENST00000341142.3_Silent_p.E315E	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	315					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCGTGGGTGAGGGTGTGCGGC	0.622													G|||	101	0.0201677	0.0726	0.0058	5008	,	,		17609	0.001		0.0	False		,,,				2504	0.0				p.E315E		Atlas-SNP	.											.	GMPPA	50	.	0			c.G945A						PASS	.	G	,	286,4116		10,266,1925	40	33	36		945,945	3	1	2	dbSNP_121	36	3,8591		0,3,4294	no	coding-synonymous,coding-synonymous	GMPPA	NM_013335.3,NM_205847.2	,	10,269,6219	AA,AG,GG		0.0349,6.497,2.2238	,	315/421,315/421	220370746	289,12707	2201	4297	6498	SO:0001819	synonymous_variant	29926	exon11			GGGTGAGGGTGTG	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.945G>A	2.37:g.220370746G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Silent	SNP	ENST00000358215.3	37	CCDS2441.1																																																																																			G|0.979;A|0.021	0.021	strong		0.622	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		A	220370746	G	A	220370746	2	1	22	1	0	0	0	0	0	0	0	1	6494	991	35	2		2	GMPPA	2	220370746	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22839	220370746	22828627	1816	6924										
GMPPA	29926	hgsc.bcm.edu	37	chr2	220371035	220371035	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccgtgggacgctgggcCcgcgtggagggtacccccag	17	14	0	0	rs1046474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220371035C>G	ENST00000358215.3	+	12	1422	c.1053C>G	c.(1051-1053)gcC>gcG	p.A351A	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.A351A|GMPPA_ENST00000373917.3_Silent_p.A404A|GMPPA_ENST00000313597.5_Silent_p.A351A|GMPPA_ENST00000341142.3_Silent_p.A351A	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	351					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GACGCTGGGCCCGCGTGGAGG	0.622													C|||	263	0.052516	0.0129	0.0908	5008	,	,		18788	0.001		0.161	False		,,,				2504	0.0204				p.A351A		Atlas-SNP	.											.	GMPPA	50	.	0			c.C1053G						PASS	.	C	,	171,4235	115.4+/-153.4	7,157,2039	73	73	73		1053,1053	0.6	0.9	2	dbSNP_86	73	1430,7170	274.6+/-291.3	112,1206,2982	no	coding-synonymous,coding-synonymous	GMPPA	NM_013335.3,NM_205847.2	,	119,1363,5021	GG,GC,CC		16.6279,3.8811,12.3097	,	351/421,351/421	220371035	1601,11405	2203	4300	6503	SO:0001819	synonymous_variant	29926	exon12			CTGGGCCCGCGTG	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1053C>G	2.37:g.220371035C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	95	51	0.536842	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Silent	SNP	ENST00000358215.3	37	CCDS2441.1																																																																																			C|0.888;G|0.112	0.112	strong		0.622	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		G	220371035	C	G	220371035	2	3	22	1	0	0	0	0	0	0	0	1	6494	610	22	4		4	GMPPA	2	220371035	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	289	220371035	22828338	1817	6925										
CHPF	79586	hgsc.bcm.edu	37	chr2	220404648	220404648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtagatccatgaggcgCagtggtgagggtgcggctgt	19	6	0	4	rs1043833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220404648C>T	ENST00000243776.6	-	4	2033	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	CHPF_ENST00000535926.1_Silent_p.L433L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	595					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	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(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCATGAGGCGCAGTGGTGAGG	0.652													C|||	1534	0.30631	0.1884	0.4841	5008	,	,		17935	0.2748		0.4523	False		,,,				2504	0.2219				p.L595L		Atlas-SNP	.											.	CHPF	56	.	0			c.G1785A						PASS	.	C	,	1096,3310		126,844,1233	53	59	57		1299,1785	-0.6	0.8	2	dbSNP_86	57	3967,4625		933,2101,1262	no	coding-synonymous,coding-synonymous	CHPF	NM_001195731.1,NM_024536.5	,	1059,2945,2495	TT,TC,CC		46.1709,24.8752,38.9521	,	433/614,595/776	220404648	5063,7935	2203	4296	6499	SO:0001819	synonymous_variant	79586	exon4			GAGGCGCAGTGGT	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1785G>A	2.37:g.220404648C>T		Somatic	227	2	0.00881057		WXS	Illumina HiSeq	Phase_I	235	235	1	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	CCDS2443.1																																																																																			C|0.645;T|0.355	0.355	strong		0.652	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		T	220404648	C	T	220404648	2	4	22	1	0	0	0	0	0	0	0	1	3368	697	25	2		2	CHPF	2	220404648	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33613	220404648	22794725	1818	6926										
CHPF	79586	hgsc.bcm.edu	37	chr2	220404726	220404726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccgctccagctctgccacGtgggccttgacaggtgcgaa	13	15	1	1	rs1043832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220404726G>A	ENST00000243776.6	-	4	1955	c.1707C>T	c.(1705-1707)caC>caT	p.H569H	CHPF_ENST00000535926.1_Silent_p.H407H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	569	Ala-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	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(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCTGCCACGTGGGCCTTGA	0.662													G|||	1534	0.30631	0.1891	0.4841	5008	,	,		17582	0.2738		0.4523	False		,,,				2504	0.2219				p.H569H		Atlas-SNP	.											.	CHPF	56	.	0			c.C1707T						PASS	.	G	,	1094,3308		126,842,1233	27	32	30		1221,1707	-4.6	0.9	2	dbSNP_86	30	3973,4621		940,2093,1264	yes	coding-synonymous,coding-synonymous	CHPF	NM_001195731.1,NM_024536.5	,	1066,2935,2497	AA,AG,GG		46.2299,24.8523,38.9889	,	407/614,569/776	220404726	5067,7929	2201	4297	6498	SO:0001819	synonymous_variant	79586	exon4			TGCCACGTGGGCC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1707C>T	2.37:g.220404726G>A		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	178	178	1	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	CCDS2443.1																																																																																			G|0.620;C|0.000;A|0.380	0.380	strong		0.662	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		A	220404726	G	A	220404726	2	1	22	1	0	0	0	0	0	0	0	1	3368	1136	40	1		1	CHPF	2	220404726	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78	220404726	22794647	1819	6927										
CHPF	79586	hgsc.bcm.edu	37	chr2	220405230	220405230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcggcgcaggagaaagcGtgctgctccgtgaagtagtc	14	11	0	2	rs6436154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220405230G>A	ENST00000243776.6	-	4	1451	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	CHPF_ENST00000535926.1_Silent_p.H239H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	401					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	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(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGAGAAAGCGTGCTGCTCCG	0.662													G|||	1558	0.311102	0.2065	0.4841	5008	,	,		17051	0.2748		0.4523	False		,,,				2504	0.2219				p.H401H		Atlas-SNP	.											.	CHPF	56	.	0			c.C1203T						PASS	.	G	,	1157,3247	387.2+/-326.4	135,887,1180	29	32	31		717,1203	-6	0	2	dbSNP_116	31	3978,4620	529.0+/-381.5	939,2100,1260	no	coding-synonymous,coding-synonymous	CHPF	NM_001195731.1,NM_024536.5	,	1074,2987,2440	AA,AG,GG		46.2666,26.2716,39.4939	,	239/614,401/776	220405230	5135,7867	2202	4299	6501	SO:0001819	synonymous_variant	79586	exon4			GAAAGCGTGCTGC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1203C>T	2.37:g.220405230G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	CCDS2443.1																																																																																			G|0.613;A|0.387	0.387	strong		0.662	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		A	220405230	G	A	220405230	2	1	22	1	0	0	0	0	0	0	0	1	3368	1136	40	1		1	CHPF	2	220405230	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	504	220405230	22794143	1820	6928										
OBSL1	23363	hgsc.bcm.edu	37	chr2	220417266	220417266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgggcagaccttcctgtCggatgcggacgcgggctccg	17	13	0	1	rs59332477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220417266C>T	ENST00000404537.1	-	18	5356	c.5300G>A	c.(5299-5301)cGa>cAa	p.R1767Q	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1675Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1767					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACCTTCCTGTCGGATGCGGAC	0.731													C|||	1886	0.376597	0.3495	0.5202	5008	,	,		10361	0.3819		0.4583	False		,,,				2504	0.2219				p.R1767Q		Atlas-SNP	.											.	OBSL1	120	.	0			c.G5300A						PASS	.	C	GLN/ARG	1409,2443		283,843,800	9	13	12		5300	4.6	1	2	dbSNP_129	12	3644,4534		865,1914,1310	yes	missense	OBSL1	NM_015311.2	43	1148,2757,2110	TT,TC,CC		44.5586,36.5784,42.0033	probably-damaging	1767/1897	220417266	5053,6977	1926	4089	6015	SO:0001583	missense	23363	exon18			TCCTGTCGGATGC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5300G>A	2.37:g.220417266C>T	ENSP00000385636:p.Arg1767Gln	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_015311	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	913	0.41804029304029305	163	0.3313008130081301	168	0.46408839779005523	228	0.3986013986013986	354	0.46701846965699206	C	22.2	4.252406	0.80135	0.365784	0.445586	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.66995	-0.24;-0.24	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.41356	1.27	0.09310	P	1.0	D	0.89917	1.0	D	0.85130	0.997	T	0.44997	-0.9291	8	0.20519	T	0.43	.	14.2902	0.66273	0.0:1.0:0.0:0.0	rs59332477;rs62191611	1767	O75147	OBSL1_HUMAN	Q	1767;1675	ENSP00000385636:R1767Q;ENSP00000362983:R1675Q	ENSP00000362983:R1675Q	R	-	2	0	OBSL1	220125510	0.997000	0.39634	1.000000	0.80357	0.840000	0.47671	3.585000	0.53943	2.390000	0.81377	0.655000	0.94253	CGA	C|0.582;T|0.418	0.418	strong		0.731	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220417266	C	T	220417266	3	4	22	1	0	0	0	0	1	0	0	0	10813	884	31	1	406	1	OBSL1	2	220417266	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12036	220417266	22782107	1821	6929										
OBSL1	23363	hgsc.bcm.edu	37	chr2	220421417	220421417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacagtgagtggtgtcagCtccgagaccagcttcaccag	13	11	2	2	rs1983210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220421417C>G	ENST00000404537.1	-	13	4151	c.4095G>C	c.(4093-4095)gaG>gaC	p.E1365D	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1273D|OBSL1_ENST00000265318.4_Missense_Mutation_p.E1273D|OBSL1_ENST00000603926.1_Missense_Mutation_p.E1365D|OBSL1_ENST00000265317.5_Missense_Mutation_p.E264D|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1365	Ig-like 12.			E -> D (in Ref. 4; BAA31632). {ECO:0000305}.	cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGGTGTCAGCTCCGAGACCA	0.597													C|||	3629	0.724641	0.6036	0.6873	5008	,	,		20402	0.7163		0.7366	False		,,,				2504	0.911				p.E1365D		Atlas-SNP	.											OBSL1_ENST00000404537,NS,carcinoma,0,1	OBSL1	120	1	0			c.G4095C						PASS	.	C	ASP/GLU,ASP/GLU	2769,1573		911,947,313	37	41	39		4095,4095	2.1	1	2	dbSNP_92	39	6240,2266		2298,1644,311	yes	missense,missense	OBSL1	NM_001173431.1,NM_015311.2	45,45	3209,2591,624	GG,GC,CC		26.64,36.2275,29.8801	possibly-damaging,possibly-damaging	1365/1544,1365/1897	220421417	9009,3839	2171	4253	6424	SO:0001583	missense	23363	exon13			TGTCAGCTCCGAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4095G>C	2.37:g.220421417C>G	ENSP00000385636:p.Glu1365Asp	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	276	146	0.528986	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	1520|1520	0.6959706959706959|0.6959706959706959	307|307	0.6239837398373984|0.6239837398373984	255|255	0.7044198895027625|0.7044198895027625	401|401	0.701048951048951|0.701048951048951	557|557	0.7348284960422163|0.7348284960422163	C|C	11.98|11.98	1.801775|1.801775	0.31869|0.31869	0.637725|0.637725	0.7336|0.7336	ENSG00000124006|ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317|ENST00000456147	T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61|.	4.16|4.16	2.11|2.11	0.27256|0.27256	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.72894|0.72894	2.215|2.215	0.31591|0.31591	P|P	0.653918|0.653918	P;P;B|.	0.44946|.	0.592;0.846;0.071|.	B;P;B|.	0.54706|.	0.418;0.759;0.075|.	T|T	0.38156|0.38156	-0.9674|-0.9674	8|4	0.23302|.	T|.	0.38|.	.|.	10.1036|10.1036	0.42519|0.42519	0.0:0.7993:0.0:0.2007|0.0:0.7993:0.0:0.2007	rs1983210;rs56494775;rs56756988;rs1983210|rs1983210;rs56494775;rs56756988;rs1983210	1366;1365;264|.	A4KVA4;O75147;E7ER99|.	.;OBSL1_HUMAN;.|.	D|T	1273;1365;1273;264|267	ENSP00000265318:E1273D;ENSP00000385636:E1365D;ENSP00000362983:E1273D;ENSP00000265317:E264D|.	ENSP00000265317:E264D|.	E|S	-|-	3|2	2|0	OBSL1|OBSL1	220129661|220129661	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.248000|0.248000	0.25809|0.25809	0.902000|0.902000	0.28459|0.28459	0.954000|0.954000	0.37851|0.37851	0.306000|0.306000	0.20318|0.20318	GAG|AGC	C|0.289;G|0.711	0.711	strong		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			G	220421417	C	G	220421417	3	3	22	1	0	0	0	0	1	0	0	0	10813	796	28	4	1654	4	OBSL1	2	220421417	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4151	220421417	22777956	1822	6930										
OBSL1	23363	hgsc.bcm.edu	37	chr2	220427347	220427347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacacgctccaggcgcacGgctgccacatacaccttgcc	8	19	0	0	rs10804275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220427347G>T	ENST00000404537.1	-	8	2786	c.2730C>A	c.(2728-2730)gcC>gcA	p.A910A	OBSL1_ENST00000373876.1_Silent_p.A910A|OBSL1_ENST00000373873.4_Silent_p.A910A|OBSL1_ENST00000265318.4_Silent_p.A910A|OBSL1_ENST00000289656.3_Silent_p.A497A|OBSL1_ENST00000603926.1_Silent_p.A910A|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	910	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGGCGCACGGCTGCCACAT	0.672													G|||	850	0.169728	0.0983	0.2608	5008	,	,		17634	0.2123		0.2406	False		,,,				2504	0.0849				p.A910A		Atlas-SNP	.											.	OBSL1	120	.	0			c.C2730A						PASS	.	G	,,	601,3791		49,503,1644	29	35	33		2730,2730,2730	-4.7	0.6	2	dbSNP_120	33	2123,6451		272,1579,2436	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	321,2082,4080	TT,TG,GG		24.7609,13.684,21.0088	,,	910/1026,910/1544,910/1897	220427347	2724,10242	2196	4287	6483	SO:0001819	synonymous_variant	23363	exon8			GCGCACGGCTGCC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2730C>A	2.37:g.220427347G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	120	58	0.483333	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			C|0.000;G|0.794;T|0.206	0.206	strong		0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220427347	G	T	220427347	2	4	22	1	0	0	0	0	0	0	0	1	10813	1103	39	4		4	OBSL1	2	220427347	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5930	220427347	22772026	1823	6931										
OBSL1	23363	hgsc.bcm.edu	37	chr2	220427395	220427395	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacacgatccacgaggagacGtctggaggacagggacagcc	14	11	1	1	rs3183099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220427395G>A	ENST00000404537.1	-	8	2738	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D	OBSL1_ENST00000373876.1_Splice_Site_p.D894D|OBSL1_ENST00000373873.4_Splice_Site_p.D894D|OBSL1_ENST00000265318.4_Splice_Site_p.D894D|OBSL1_ENST00000289656.3_Splice_Site_p.D481D|OBSL1_ENST00000603926.1_Splice_Site_p.D894D	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	894					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGAGGAGACGTCTGGAGGAC	0.647													G|||	822	0.164137	0.0772	0.2608	5008	,	,		17765	0.2123		0.2386	False		,,,				2504	0.0869				p.D894D		Atlas-SNP	.											.	OBSL1	120	.	0			c.C2682T						PASS	.	G	,,	461,3787		40,381,1703	18	22	21		2682,2682,2682	-7.6	0.4	2	dbSNP_105	21	1962,6404		251,1460,2472	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	291,1841,4175	AA,AG,GG		23.4521,10.8522,19.2088	,,	894/1026,894/1544,894/1897	220427395	2423,10191	2124	4183	6307	SO:0001630	splice_region_variant	23363	exon8			GGAGACGTCTGGA	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2681-1C>T	2.37:g.220427395G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			G|0.802;A|0.198	0.198	strong		0.647	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		Silent	A	220427395	G	A	220427395	5	1	22	1	0	0	0	0	0	0	1	0	10813	1159	40	1	3216	1	OBSL1	2	220427395	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48	220427395	22771978	1824	6932										
INHA	3623	hgsc.bcm.edu	37	chr2	220439700	220439700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcacctggccacctctGctctctctctgctgacccac	7	19	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220439700G>T	ENST00000243786.2	+	2	733	c.553G>T	c.(553-555)Gct>Tct	p.A185S	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	185					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCACCTCTGCTCTCTCTCT	0.687																																					p.A185S		Atlas-SNP	.											INHA,right_upper_lobe,carcinoma,-1,1	INHA	30	1	0			c.G553T						scavenged	.						86	80	82					2																	220439700		2203	4300	6503	SO:0001583	missense	3623	exon2			ACCTCTGCTCTCT		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.553G>T	2.37:g.220439700G>T	ENSP00000243786:p.Ala185Ser	Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	89	2	0.0224719	NM_002191	A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	7.113	0.576509	0.13686	.	.	ENSG00000123999	ENST00000243786	D	0.85088	-1.94	5.37	4.43	0.53597	.	0.488362	0.22115	N	0.064422	D	0.85474	0.5705	M	0.85099	2.735	0.22199	N	0.999294	P	0.36222	0.544	B	0.34093	0.175	T	0.81754	-0.0788	10	0.62326	D	0.03	-16.9786	12.8035	0.57598	0.0:0.0:0.651:0.349	.	185	P05111	INHA_HUMAN	S	185	ENSP00000243786:A185S	ENSP00000243786:A185S	A	+	1	0	INHA	220147944	0.108000	0.22018	0.625000	0.29200	0.033000	0.12548	1.688000	0.37690	2.504000	0.84457	0.561000	0.74099	GCT	.	.	none		0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			T	220439700	G	T	220439700	3	4	22	1	0	0	0	0	1	0	0	0	7740	1319	46	4	559	4	INHA	2	220439700	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12305	220439700	22759673	1825	6933										
INHA	3623	hgsc.bcm.edu	37	chr2	220439826	220439826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccagaccacccagtggaGgggagagagcccgacgctca	15	13	1	2	rs12720061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:220439826G>A	ENST00000243786.2	+	2	859	c.679G>A	c.(679-681)Ggg>Agg	p.G227R		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	227			G -> R (in dbSNP:rs12720061).		cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACCCAGTGGAGGGGAGAGAGC	0.687													G|||	165	0.0329473	0.1225	0.0043	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0				p.G227R		Atlas-SNP	.											.	INHA	30	.	0			c.G679A	GRCh37	CM041026	INHA	M	rs12720061	PASS	.	G	ARG/GLY	400,4006	195.7+/-220.2	17,366,1820	38	41	40		679	5.5	0.9	2	dbSNP_121	40	4,8596	3.7+/-12.6	0,4,4296	yes	missense	INHA	NM_002191.3	125	17,370,6116	AA,AG,GG		0.0465,9.0785,3.1063	benign	227/367	220439826	404,12602	2203	4300	6503	SO:0001583	missense	3623	exon2			AGTGGAGGGGAGA		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.679G>A	2.37:g.220439826G>A	ENSP00000243786:p.Gly227Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	139	75	0.539568	NM_002191	A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	CCDS2444.1	52	0.023809523809523808	50	0.1016260162601626	2	0.0055248618784530384	0	0.0	0	0.0	G	13.05	2.120959	0.37436	0.090785	4.65E-4	ENSG00000123999	ENST00000243786	D	0.84944	-1.92	5.48	5.48	0.80851	.	0.394385	0.24085	N	0.041686	T	0.08935	0.0221	L	0.41079	1.255	0.25639	N	0.986228	B	0.21905	0.062	B	0.17722	0.019	T	0.16424	-1.0403	9	.	.	.	-13.0624	9.3942	0.38392	0.0778:0.145:0.7772:0.0	rs12720061;rs57625669	227	P05111	INHA_HUMAN	R	227	ENSP00000243786:G227R	.	G	+	1	0	INHA	220148070	0.002000	0.14202	0.937000	0.37676	0.995000	0.86356	1.128000	0.31369	2.564000	0.86499	0.561000	0.74099	GGG	G|0.973;A|0.027	0.027	strong		0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			A	220439826	G	A	220439826	3	1	22	1	0	0	0	0	1	0	0	0	7740	1000	35	2	685	2	INHA	2	220439826	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126	220439826	22759547	1826	6934										
EPHA4	2043	hgsc.bcm.edu	37	chr2	222308226	222308226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttaccaactcctataacTttttcaatcttaatgcagga	3	11	2	0	rs10498111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:222308226T>C	ENST00000281821.2	-	10	1916	c.1875A>G	c.(1873-1875)aaA>aaG	p.K625K	EPHA4_ENST00000409938.1_Silent_p.K625K|EPHA4_ENST00000392071.4_Silent_p.K574K|EPHA4_ENST00000409854.1_Silent_p.K625K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	625	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTCCTATAACTTTTTCAATCT	0.403													T|||	448	0.0894569	0.1589	0.0879	5008	,	,		19302	0.0863		0.008	False		,,,				2504	0.0838				p.K625K		Atlas-SNP	.											.	EPHA4	263	.	0			c.A1875G						PASS	.	T		600,3806	257.4+/-261.8	40,520,1643	148	131	137		1875	4.8	1	2	dbSNP_119	137	60,8540	36.9+/-92.0	1,58,4241	no	coding-synonymous	EPHA4	NM_004438.3		41,578,5884	CC,CT,TT		0.6977,13.6178,5.0746		625/987	222308226	660,12346	2203	4300	6503	SO:0001819	synonymous_variant	2043	exon10			TATAACTTTTTCA	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1875A>G	2.37:g.222308226T>C		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	217	98	0.451613	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	CCDS2447.1																																																																																			T|0.936;C|0.064	0.064	strong		0.403	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			C	222308226	T	C	222308226	2	2	22	1	0	0	0	0	0	0	0	1	5169	1606	56	3		3	EPHA4	2	222308226	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1868400	222308226	20891147	1827	6935										
ACSL3	2181	hgsc.bcm.edu	37	chr2	223783841	223783841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgttgatggaaagccaccGacctggtccgagttccccaa	10	13	0	1	rs13000358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:223783841G>A	ENST00000357430.3	+	7	1257	c.726G>A	c.(724-726)ccG>ccA	p.P242P	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Silent_p.P242P	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	242					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAAGCCACCGACCTGGTCCG	0.483			T	ETV1	prostate								g|||	113	0.0225639	0.0113	0.0346	5008	,	,		16458	0.0		0.0537	False		,,,				2504	0.0204				p.P242P		Atlas-SNP	.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3	107	.	0			c.G726A						PASS	.	G	,	85,4321	72.5+/-110.5	0,85,2118	120	102	108		726,726	-11.3	0	2	dbSNP_121	108	466,8134	138.1+/-194.9	14,438,3848	no	coding-synonymous,coding-synonymous	ACSL3	NM_004457.3,NM_203372.1	,	14,523,5966	AA,AG,GG		5.4186,1.9292,4.2365	,	242/721,242/721	223783841	551,12455	2203	4300	6503	SO:0001819	synonymous_variant	2181	exon6			GCCACCGACCTGG	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.726G>A	2.37:g.223783841G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	225	107	0.475556	NM_203372	Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	CCDS2455.1																																																																																			G|0.963;A|0.037	0.037	strong		0.483	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		A	223783841	G	A	223783841	2	1	22	1	0	0	0	0	0	0	0	1	178	1045	37	1		1	ACSL3	2	223783841	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1475615	223783841	19415532	1828	6936										
SCG2	7857	hgsc.bcm.edu	37	chr2	224462714	224462714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatcctcaacactgagcccGtctggtagggcctcagtccc	9	15	3	1	rs721233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:224462714G>A	ENST00000305409.2	-	2	1519	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACTGAGCCCGTCTGGTAGGG	0.468													G|||	277	0.0553115	0.1604	0.0346	5008	,	,		19418	0.001		0.0189	False		,,,				2504	0.0215				p.D429D		Atlas-SNP	.											.	SCG2	99	.	0			c.C1287T						PASS	.	G		663,3743	279.3+/-274.7	49,565,1589	78	78	78		1287	-3.1	0.2	2	dbSNP_86	78	173,8427	78.6+/-141.3	3,167,4130	no	coding-synonymous	SCG2	NM_003469.4		52,732,5719	AA,AG,GG		2.0116,15.0477,6.4278		429/618	224462714	836,12170	2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			GAGCCCGTCTGGT	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1287C>T	2.37:g.224462714G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	79	44	0.556962	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																			G|0.932;A|0.068	0.068	strong		0.468	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		A	224462714	G	A	224462714	2	1	22	1	0	0	0	0	0	0	0	1	13891	1136	40	1		1	SCG2	2	224462714	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	678873	224462714	18736659	1829	6937										
SERPINE2	5270	hgsc.bcm.edu	37	chr2	224862842	224862842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccactcacccctggtttcAtttttaacccatgcattgat	6	13	2	1	rs12457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:224862842A>G	ENST00000258405.4	-	3	719	c.477T>C	c.(475-477)aaT>aaC	p.N159N	SERPINE2_ENST00000447280.2_Silent_p.N171N|SERPINE2_ENST00000409840.3_Silent_p.N159N|SERPINE2_ENST00000409304.1_Silent_p.N159N	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	159				N -> D (in Ref. 4; BAG35401). {ECO:0000305}.	blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCCTGGTTTCATTTTTAACCC	0.453													G|||	1272	0.253994	0.4826	0.2161	5008	,	,		20707	0.129		0.1909	False		,,,				2504	0.1656				p.N171N		Atlas-SNP	.											.	SERPINE2	103	.	0			c.T513C						PASS	.	G	,,	1957,2449	621.9+/-393.8	440,1077,686	71	66	68		477,513,477	-1.8	0.5	2	dbSNP_116	68	1679,6921	739.8+/-407.1	161,1357,2782	no	coding-synonymous,coding-synonymous,coding-synonymous	SERPINE2	NM_001136528.1,NM_001136530.1,NM_006216.3	,,	601,2434,3468	GG,GA,AA		19.5233,44.4167,27.9563	,,	159/398,171/410,159/399	224862842	3636,9370	2203	4300	6503	SO:0001819	synonymous_variant	5270	exon3			GGTTTCATTTTTA	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.477T>C	2.37:g.224862842A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	45	0.428571	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																			A|0.718;G|0.282	0.282	strong		0.453	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		G	224862842	A	G	224862842	2	3	22	1	0	0	0	0	0	0	0	1	14112	214	8	2		2	SERPINE2	2	224862842	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	400128	224862842	18336531	1830	6938										
RHBDD1	84236	hgsc.bcm.edu	37	chr2	227860232	227860232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcttcacagattcgatagCcagtgaggtggcatcttggg	14	9	2	2	rs61745917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:227860232C>T	ENST00000341329.3	+	7	1184	c.942C>T	c.(940-942)agC>agT	p.S314S	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Silent_p.S314S	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	314	VCP/p97-interacting motif (VIM). {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GATTCGATAGCCAGTGAGGTG	0.448													C|||	29	0.00579073	0.0212	0.0014	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0				p.S314S		Atlas-SNP	.											.	RHBDD1	34	.	0			c.C942T						PASS	.	C	,	58,4348	57.4+/-93.9	0,58,2145	67	61	63		942,942	2.4	0.8	2	dbSNP_129	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RHBDD1	NM_001167608.1,NM_032276.3	,	0,58,6445	TT,TC,CC		0.0,1.3164,0.4459	,	314/316,314/316	227860232	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	84236	exon9			CGATAGCCAGTGA	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.942C>T	2.37:g.227860232C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	188	95	0.505319	NM_001167608	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	CCDS2464.1																																																																																			C|0.996;T|0.004	0.004	strong		0.448	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			T	227860232	C	T	227860232	2	4	22	1	0	0	0	0	0	0	0	1	13316	738	26	2		2	RHBDD1	2	227860232	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2997390	227860232	15339141	1831	6939										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228118867	228118867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacaagggagcaatgggcGagcctggacctcctggaccc	15	12	0	1	rs80109666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228118867G>A	ENST00000396578.3	+	14	967	c.805G>A	c.(805-807)Gag>Aag	p.E269K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	269	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGCAATGGGCGAGCCTGGACC	0.418													G|||	304	0.0607029	0.0855	0.0115	5008	,	,		18214	0.1438		0.0129	False		,,,				2504	0.0256				p.E269K		Atlas-SNP	.											.	COL4A3	293	.	0			c.G805A						PASS	.	G	LYS/GLU	253,3543		16,221,1661	102	112	109		805	-5.1	0	2	dbSNP_131	109	20,8204		0,20,4092	yes	missense	COL4A3	NM_000091.4	56	16,241,5753	AA,AG,GG		0.2432,6.6649,2.2712	benign	269/1671	228118867	273,11747	1898	4112	6010	SO:0001583	missense	1285	exon14			ATGGGCGAGCCTG		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.805G>A	2.37:g.228118867G>A	ENSP00000379823:p.Glu269Lys	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	135	61	0.451852	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	145	0.06639194139194139	44	0.08943089430894309	7	0.019337016574585635	85	0.1486013986013986	9	0.011873350923482849	G	8.865	0.947951	0.18356	0.066649	0.002432	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94184	-3.37	5.62	-5.14	0.02875	.	1.289780	0.05378	N	0.536580	T	0.02342	0.0072	L	0.28608	0.87	0.80722	P	0.0	P;P;P;P	0.44139	0.803;0.803;0.827;0.751	B;B;B;B	0.38327	0.064;0.151;0.271;0.095	T	0.59150	-0.7508	9	0.09843	T	0.71	.	7.9227	0.29857	0.3598:0.3879:0.2523:0.0	.	269;269;269;269	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	K	269	ENSP00000379823:E269K	ENSP00000323334:E269K	E	+	1	0	COL4A3	227827111	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.206000	0.03011	-1.518000	0.01778	-2.498000	0.00192	GAG	G|0.956;A|0.044	0.044	strong		0.418	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		A	228118867	G	A	228118867	3	1	22	1	0	0	0	0	1	0	0	0	3691	1059	37	1	859	1	COL4A3	2	228118867	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	258635	228118867	15080506	1832	6940										
AGFG1	3267	hgsc.bcm.edu	37	chr2	228398422	228398422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagctggtttacagactgcAgacaaatatgcagcacttgc	9	9	0	2	rs13015491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228398422A>G	ENST00000310078.8	+	7	1232	c.972A>G	c.(970-972)gcA>gcG	p.A324A	AGFG1_ENST00000409171.1_Silent_p.A324A|AGFG1_ENST00000409979.2_Silent_p.A348A|AGFG1_ENST00000373671.3_Silent_p.A284A|AGFG1_ENST00000409315.1_Silent_p.A324A	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	324					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A324A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TACAGACTGCAGACAAATATG	0.393													A|||	348	0.0694888	0.0023	0.1455	5008	,	,		19964	0.1042		0.0964	False		,,,				2504	0.0429				p.A348A		Atlas-SNP	.											AGFG1,NS,carcinoma,0,1	AGFG1	80	1	1	Substitution - coding silent(1)	stomach(1)	c.A1044G						PASS	.	A	,,,	93,4313	77.3+/-115.6	0,93,2110	82	79	80		1044,972,852,972	1.1	1	2	dbSNP_121	80	708,7892	173.9+/-224.3	25,658,3617	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AGFG1	NM_001135187.1,NM_001135188.1,NM_001135189.1,NM_004504.4	,,,	25,751,5727	GG,GA,AA		8.2326,2.1108,6.1587	,,,	348/585,324/561,284/523,324/563	228398422	801,12205	2203	4300	6503	SO:0001819	synonymous_variant	3267	exon8			GACTGCAGACAAA		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.972A>G	2.37:g.228398422A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	148	83	0.560811	NM_001135187	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	CCDS2467.1																																																																																			A|0.931;G|0.069	0.069	strong		0.393	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		G	228398422	A	G	228398422	2	3	22	1	0	0	0	0	0	0	0	1	380	175	7	3		3	AGFG1	2	228398422	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	279555	228398422	14800951	1833	6941										
C2orf83	56918	hgsc.bcm.edu	37	chr2	228476140	228476140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaaccatctagaatggctCcagagcaccgaatcttgtgg	10	10	2	3	rs2176186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228476140C>T	ENST00000264387.4	-	3	509	c.423G>A	c.(421-423)tgG>tgA	p.W141*	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	141					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TAGAATGGCTCCAGAGCACCG	0.473													T|||	1572	0.313898	0.2254	0.3401	5008	,	,		18581	0.4058		0.2753	False		,,,				2504	0.3599				p.W141X		Atlas-SNP	.											.	C2orf83	15	.	0			c.G423A						PASS	.	T	,stop/TRP	1024,3382	727.6+/-409.9	113,798,1292	159	154	156		,423	-1.8	0	2	dbSNP_96	156	2628,5972	687.1+/-404.2	382,1864,2054	yes	utr-3,stop-gained	C2orf83	NM_001162483.1,NM_020161.3	,	495,2662,3346	TT,TC,CC		30.5581,23.241,28.0793	,	,141/151	228476140	3652,9354	2203	4300	6503	SO:0001587	stop_gained	56918	exon3			ATGGCTCCAGAGC		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.423G>A	2.37:g.228476140C>T	ENSP00000264387:p.Trp141*	Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	337	172	0.510386	NM_020161	A2RRG6|B8ZZI8|Q9NPW4	Nonsense_Mutation	SNP	ENST00000264387.4	37	CCDS33388.1	671	0.30723443223443225	112	0.22764227642276422	117	0.32320441988950277	241	0.42132867132867136	201	0.26517150395778366	T	9.224	1.034135	0.19590	0.23241	0.305581	ENSG00000042304	ENST00000264387	.	.	.	2.28	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0887	0.09960	0.0:0.4167:0.2121:0.3712	rs2176186;rs3762469;rs60183513;rs2176186	.	.	.	X	141	.	ENSP00000264387:W141X	W	-	3	0	C2orf83	228184384	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.799000	0.27028	-0.890000	0.03945	-1.480000	0.00990	TGG	C|0.703;T|0.297	0.297	strong		0.473	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		T	228476140	C	T	228476140	4	4	22	1	0	0	0	0	0	1	0	0	2198	856	30	2	33	2	C2orf83	2	228476140	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77718	228476140	14723233	1834	6942										
C2orf83	56918	hgsc.bcm.edu	37	chr2	228493211	228493211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatctggctggcttttggcGagggctttgctttgtgctgt	15	8	1	0	rs28739019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228493211G>A	ENST00000264387.4	-	2	220	c.134C>T	c.(133-135)tCg>tTg	p.S45L	C2orf83_ENST00000409066.1_Missense_Mutation_p.S45L	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	45			S -> L (in dbSNP:rs28739019).		transport (GO:0006810)	membrane (GO:0016020)		p.S45L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						ggcttttggcgagggctttgc	0.453													G|||	1702	0.339856	0.466	0.3084	5008	,	,		18142	0.2143		0.2575	False		,,,				2504	0.4059				p.S45L		Atlas-SNP	.											C2orf83,NS,carcinoma,0,1	C2orf83	15	1	1	Substitution - Missense(1)	stomach(1)	c.C134T						PASS	.	G	LEU/SER,LEU/SER	1129,1525		247,635,445	237	203	215		134,134	-1.4	0	2	dbSNP_125	215	1185,3433		172,841,1296	yes	missense,missense	C2orf83	NM_001162483.1,NM_020161.3	145,145	419,1476,1741	AA,AG,GG		25.6605,42.5396,31.8207	possibly-damaging,possibly-damaging	45/97,45/151	228493211	2314,4958	1327	2309	3636	SO:0001583	missense	56918	exon2			TTTGGCGAGGGCT		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.134C>T	2.37:g.228493211G>A	ENSP00000264387:p.Ser45Leu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	167	69	0.413174	NM_020161	A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	CCDS33388.1	627	0.28708791208791207	208	0.42276422764227645	108	0.2983425414364641	127	0.22202797202797203	184	0.24274406332453827	.	4.677	0.125929	0.08931	0.425396	0.256605	ENSG00000042304	ENST00000264387;ENST00000409066	T;T	0.69806	0.17;-0.43	0.694	-1.36	0.09085	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.35151	-0.9800	7	0.56958	D	0.05	.	.	.	.	rs28739019	45;45	B8ZZI8;Q53S99	.;CB083_HUMAN	L	45	ENSP00000264387:S45L;ENSP00000387149:S45L	ENSP00000264387:S45L	S	-	2	0	C2orf83	228201455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.928000	0.00332	-0.756000	0.04703	-0.751000	0.03497	TCG	G|0.709;A|0.291	0.291	strong		0.453	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		A	228493211	G	A	228493211	3	1	22	1	0	0	0	0	1	0	0	0	2198	1059	37	1	425	1	C2orf83	2	228493211	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17071	228493211	14706162	1835	6943										
SLC19A3	80704	hgsc.bcm.edu	37	chr2	228566993	228566993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagaggatcacagtgggGtaaatccaggaactgcttag	13	7	1	1	rs34080459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228566993G>A	ENST00000258403.3	-	2	113	c.42C>T	c.(40-42)taC>taT	p.Y14Y	SLC19A3_ENST00000409287.1_Silent_p.Y14Y|SLC19A3_ENST00000541617.1_5'UTR	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	14					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCACAGTGGGGTAAATCCAGG	0.383													G|||	79	0.0157748	0.0537	0.0086	5008	,	,		19039	0.001		0.001	False		,,,				2504	0.0				p.Y14Y		Atlas-SNP	.											.	SLC19A3	62	.	0			c.C42T						PASS	.	G		221,4185	134.9+/-171.1	6,209,1988	108	115	113		42	1.7	1	2	dbSNP_126	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		6,210,6287	AA,AG,GG		0.0116,5.0159,1.7069		14/497	228566993	222,12784	2203	4300	6503	SO:0001819	synonymous_variant	80704	exon2			AGTGGGGTAAATC	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.42C>T	2.37:g.228566993G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_025243		Silent	SNP	ENST00000258403.3	37	CCDS2468.1																																																																																			G|0.982;A|0.018	0.018	strong		0.383	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			A	228566993	G	A	228566993	2	1	22	1	0	0	0	0	0	0	0	1	14430	1256	44	2		2	SLC19A3	2	228566993	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73782	228566993	14632380	1836	6944										
WDR69	164781	hgsc.bcm.edu	37	chr2	228750106	228750106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacatggagaattaaagaCtaagtccatagatttgcttg	8	5	0	3	rs11894733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228750106C>T	ENST00000309931.2	+	2	163	c.80C>T	c.(79-81)aCt>aTt	p.T27I	SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000545118.1_Missense_Mutation_p.T12I|DAW1_ENST00000373666.2_Missense_Mutation_p.T27I	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	27			T -> I (in dbSNP:rs11894733).			cilium (GO:0005929)											GAATTAAAGACTAAGTCCATA	0.343													C|||	299	0.0597045	0.2179	0.0159	5008	,	,		14283	0.0		0.0	False		,,,				2504	0.0				p.T27I		Atlas-SNP	.											.	.	.	.	0			c.C80T						PASS	.	C	ILE/THR	760,3646	307.2+/-289.9	67,626,1510	113	118	116		80	4.6	1	2	dbSNP_120	116	9,8591	7.1+/-27.0	0,9,4291	yes	missense	WDR69	NM_178821.1	89	67,635,5801	TT,TC,CC		0.1047,17.2492,5.9127	possibly-damaging	27/416	228750106	769,12237	2203	4300	6503	SO:0001583	missense	164781	exon2			TAAAGACTAAGTC		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.80C>T	2.37:g.228750106C>T	ENSP00000311899:p.Thr27Ile	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	67	28	0.41791	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	109	0.04990842490842491	102	0.2073170731707317	7	0.019337016574585635	0	0.0	0	0.0	C	12.91	2.079117	0.36662	0.172492	0.001047	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.53423	0.69;0.64;0.71;0.62	5.52	4.61	0.57282	.	0.172732	0.50627	D	0.000108	T	0.00073	0.0002	M	0.81341	2.54	0.19575	P	0.9999648258	P	0.52170	0.951	P	0.44394	0.448	T	0.08638	-1.0712	9	0.41790	T	0.15	.	10.7579	0.46247	0.0:0.9014:0.0:0.0986	rs11894733;rs52813204;rs56552186;rs58221385;rs11894733	27	Q8N136	WDR69_HUMAN	I	27;27;12;12	ENSP00000362770:T27I;ENSP00000311899:T27I;ENSP00000394853:T12I;ENSP00000437887:T12I	ENSP00000311899:T27I	T	+	2	0	WDR69	228458350	1.000000	0.71417	0.995000	0.50966	0.330000	0.28571	4.893000	0.63199	1.234000	0.43709	0.655000	0.94253	ACT	C|0.939;T|0.061	0.061	strong		0.343	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		T	228750106	C	T	228750106	3	4	22	1	0	0	0	0	1	0	0	0	17316	565	20	2	86	2	WDR69	2	228750106	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	183113	228750106	14449267	1837	6945										
SPHKAP	80309	hgsc.bcm.edu	37	chr2	228882588	228882588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagccggggaggcttgtgTttcctcacagcggtcccgct	14	13	1	1	rs73994847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:228882588T>C	ENST00000392056.3	-	7	3028	c.2982A>G	c.(2980-2982)aaA>aaG	p.K994K	SPHKAP_ENST00000344657.5_Silent_p.K994K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	994						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGCTTGTGTTTCCTCACAG	0.537													T|||	177	0.0353435	0.1301	0.0072	5008	,	,		20344	0.0		0.0	False		,,,				2504	0.0				p.K994K		Atlas-SNP	.											.	SPHKAP	750	.	0			c.A2982G						PASS	.	T	,	552,3854	246.8+/-255.3	32,488,1683	83	74	77		2982,2982	-4	1	2	dbSNP_130	77	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SPHKAP	NM_001142644.1,NM_030623.3	,	32,493,5978	CC,CT,TT		0.0581,12.5284,4.2826	,	994/1701,994/1672	228882588	557,12449	2203	4300	6503	SO:0001819	synonymous_variant	80309	exon7			CTTGTGTTTCCTC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2982A>G	2.37:g.228882588T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	101	53	0.524752	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																			T|0.953;C|0.047	0.047	strong		0.537	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		C	228882588	T	C	228882588	2	2	22	1	0	0	0	0	0	0	0	1	15047	1722	60	2		2	SPHKAP	2	228882588	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	132482	228882588	14316785	1838	6946										
SP110	3431	hgsc.bcm.edu	37	chr2	231065630	231065630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttcgtggtgtactaggcGtcttctgggacctctttcct	10	13	3	0	rs59573011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231065630G>A	ENST00000358662.4	-	10	1178	c.1100C>T	c.(1099-1101)aCg>aTg	p.T367M	SP110_ENST00000486146.2_5'Flank|SP110_ENST00000258381.6_Missense_Mutation_p.T367M|SP110_ENST00000338556.3_Missense_Mutation_p.T69M|SP110_ENST00000540870.1_Missense_Mutation_p.T373M|SP110_ENST00000258382.5_Missense_Mutation_p.T367M|SP110_ENST00000392048.3_Missense_Mutation_p.T365M	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	367			T -> M (in dbSNP:rs59573011). {ECO:0000269|PubMed:16816019}.		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)		TGTACTAGGCGTCTTCTGGGA	0.443													G|||	83	0.0165735	0.0598	0.0058	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0				p.T373M		Atlas-SNP	.											.	SP110	105	.	0			c.C1118T						PASS	.	G	MET/THR,MET/THR,MET/THR,MET/THR	231,4175	137.7+/-173.5	9,213,1981	228	200	210		1118,1100,1100,1100	-0.6	0	2	dbSNP_129	210	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	81,81,81,81	9,215,6279	AA,AG,GG		0.0233,5.2429,1.7915	probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/556,367/690,367/550,367/714	231065630	233,12773	2203	4300	6503	SO:0001583	missense	3431	exon11			CTAGGCGTCTTCT	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.1100C>T	2.37:g.231065630G>A	ENSP00000351488:p.Thr367Met	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	196	86	0.438776	NM_001185015	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	29	0.013278388278388278	26	0.052845528455284556	3	0.008287292817679558	0	0.0	0	0.0	G	12.50	1.957341	0.34565	0.052429	2.33E-4	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.65364	1.07;0.92;-0.15;-0.15;-0.15;2.46	2.49	-0.633	0.11519	.	.	.	.	.	T	0.11580	0.0282	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.67145	0.985;0.996;0.985;0.994;0.512	P;P;P;B;B	0.48030	0.541;0.564;0.541;0.389;0.047	T	0.10730	-1.0617	9	0.51188	T	0.08	.	2.8987	0.05699	0.3085:0.2426:0.4489:0.0	rs59573011	365;69;373;367;367	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	M	367;367;365;367;373;69	ENSP00000258381:T367M;ENSP00000351488:T367M;ENSP00000375902:T365M;ENSP00000258382:T367M;ENSP00000439558:T373M;ENSP00000344049:T69M	ENSP00000258381:T367M	T	-	2	0	SP110	230773874	0.014000	0.17966	0.025000	0.17156	0.009000	0.06853	-0.059000	0.11731	-0.148000	0.11234	0.557000	0.71058	ACG	G|0.980;A|0.020	0.020	strong		0.443	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		A	231065630	G	A	231065630	3	1	22	1	0	0	0	0	1	0	0	0	14961	1145	40	1	1145	1	SP110	2	231065630	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2183042	231065630	12133743	1839	6947										
SP140	11262	hgsc.bcm.edu	37	chr2	231118041	231118041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctgtcagtttcttgtttAtctgcagagacctttgatct	9	8	5	2	rs3820975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231118041A>C	ENST00000392045.3	+	11	1182	c.1068A>C	c.(1066-1068)ttA>ttC	p.L356F	SP140_ENST00000417495.3_Intron|SP140_ENST00000343805.6_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Missense_Mutation_p.L280F|SP140_ENST00000420434.3_Missense_Mutation_p.L356F	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	356			L -> F (in dbSNP:rs3820975).	LSA -> FST (in Ref. 1; AAB18617). {ECO:0000305}.	defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTCTTGTTTATCTGCAGAGA	0.473													a|||	617	0.123203	0.1815	0.1081	5008	,	,		19243	0.0952		0.1332	False		,,,				2504	0.0736				p.L356F		Atlas-SNP	.											.	SP140	121	.	0			c.A1068C						PASS	.	C	PHE/LEU	635,3141		55,525,1308	150	135	140		1068	1.7	0	2	dbSNP_107	140	1092,7140		84,924,3108	yes	missense	SP140	NM_007237.4	22	139,1449,4416	CC,CA,AA		13.2653,16.8167,14.3821	benign	356/868	231118041	1727,10281	1888	4116	6004	SO:0001583	missense	11262	exon11			TTGTTTATCTGCA	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1068A>C	2.37:g.231118041A>C	ENSP00000375899:p.Leu356Phe	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	179	80	0.446927	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	280	0.1282051282051282	96	0.1951219512195122	40	0.11049723756906077	50	0.08741258741258741	94	0.12401055408970976	a	0.090	-1.168032	0.01660	0.168167	0.132653	ENSG00000079263	ENST00000486687;ENST00000392045;ENST00000420434	T;T;T	0.59772	0.24;0.52;0.56	2.55	1.67	0.24075	.	.	.	.	.	T	0.00039	0.0001	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16394	-1.0404	8	0.09338	T	0.73	.	3.289	0.06942	0.2553:0.6001:0.0:0.1446	rs3820975;rs52809113;rs3820975	356;356	E7EUR5;Q13342	.;LY10_HUMAN	F	280;356;356	ENSP00000440107:L280F;ENSP00000375899:L356F;ENSP00000398210:L356F	ENSP00000375899:L356F	L	+	3	2	SP140	230826285	0.001000	0.12720	0.008000	0.14137	0.003000	0.03518	0.332000	0.19751	0.189000	0.20188	-0.290000	0.09829	TTA	A|0.867;C|0.133	0.133	strong		0.473	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		C	231118041	A	C	231118041	3	2	22	1	0	0	0	0	1	0	0	0	14962	446	16	5	1227	5	SP140	2	231118041	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52411	231118041	12081332	1840	6948										
SP140L	93349	hgsc.bcm.edu	37	chr2	231248261	231248261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctggagcagaatgggaaCgagaacgcagaaaaacaacc	13	8	0	3	rs28497362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231248261C>T	ENST00000415673.2	+	8	760	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SP140L_ENST00000396563.4_Missense_Mutation_p.T225M|SP140L_ENST00000243810.6_Missense_Mutation_p.T225M|SP140L_ENST00000444636.1_Missense_Mutation_p.T225M	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	225			T -> M (in dbSNP:rs28497362).			nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGAATGGGAACGAGAACGCAG	0.368													C|||	1153	0.230232	0.1868	0.1599	5008	,	,		20124	0.1448		0.1551	False		,,,				2504	0.5041				p.T225M		Atlas-SNP	.											.	SP140L	68	.	0			c.C674T						PASS	.	C	MET/THR	609,3149		50,509,1320	99	106	104		674	-3.2	0	2	dbSNP_125	104	1213,7005		88,1037,2984	yes	missense	SP140L	NM_138402.4	81	138,1546,4304	TT,TC,CC		14.7603,16.2054,15.2138	benign	225/581	231248261	1822,10154	1879	4109	5988	SO:0001583	missense	93349	exon8			TGGGAACGAGAAC	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.674C>T	2.37:g.231248261C>T	ENSP00000397911:p.Thr225Met	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	271	132	0.487085	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	348	0.15934065934065933	87	0.17682926829268292	54	0.14917127071823205	94	0.16433566433566432	113	0.14907651715039577	C	1.288	-0.608551	0.03717	0.162054	0.147603	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.83163	-1.56;-1.21;-1.56;-1.69	2.4	-3.15	0.05233	.	.	.	.	.	T	0.00178	0.0005	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.25772	0.134;0.112	B;B	0.21546	0.035;0.013	T	0.03463	-1.1034	8	0.44086	T	0.13	.	1.0792	0.01639	0.2154:0.3363:0.2813:0.1669	rs28497362;rs28497362	225;225	Q9H930-2;Q9H930-4	.;.	M	225	ENSP00000395195:T225M;ENSP00000397911:T225M;ENSP00000243810:T225M;ENSP00000379811:T225M	ENSP00000243810:T225M	T	+	2	0	SP140L	230956505	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.927000	0.01561	-0.989000	0.03485	-0.893000	0.02921	ACG	C|0.819;T|0.181	0.181	strong		0.368	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		T	231248261	C	T	231248261	3	4	22	1	0	0	0	0	1	0	0	0	14963	536	19	1	704	1	SP140L	2	231248261	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	130220	231248261	11951112	1841	6949										
SP140L	93349	hgsc.bcm.edu	37	chr2	231256812	231256812	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcttacaggaaccttggcAaagtgtatacagactgagga	12	7	1	2	rs7559665|rs386656123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231256812A>G	ENST00000415673.2	+	12	1061	c.975A>G	c.(973-975)gcA>gcG	p.A325A	SP140L_ENST00000396563.4_Silent_p.A290A|SP140L_ENST00000243810.6_Silent_p.A325A|SP140L_ENST00000444636.1_Silent_p.A325A	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	325	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAACCTTGGCAAAGTGTATAC	0.502													G|||	1026	0.204872	0.1997	0.2248	5008	,	,		19277	0.0685		0.3221	False		,,,				2504	0.2178				p.A325A		Atlas-SNP	.											.	SP140L	68	.	0			c.A975G						PASS	.	G		848,3146		90,668,1239	105	111	109		975	1.6	0	2	dbSNP_116	109	2560,5820		384,1792,2014	no	coding-synonymous	SP140L	NM_138402.4		474,2460,3253	GG,GA,AA		30.5489,21.2318,27.5416		325/581	231256812	3408,8966	1997	4190	6187	SO:0001819	synonymous_variant	93349	exon12			CTTGGCAAAGTGT	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.975A>G	2.37:g.231256812A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	172	83	0.482558	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	CCDS46538.1																																																																																			A|0.801;G|0.199	0.199	strong		0.502	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		G	231256812	A	G	231256812	2	3	22	1	0	0	0	0	0	0	0	1	14963	117	5	2		2	SP140L	2	231256812	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8551	231256812	11942561	1842	6950										
SP140L	93349	hgsc.bcm.edu	37	chr2	231258150	231258150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggatctctacctaatcctCcaagaatatattacaggaac	5	10	1	1	rs7590429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231258150C>T	ENST00000415673.2	+	13	1215	c.1129C>T	c.(1129-1131)Cca>Tca	p.P377S	SP140L_ENST00000396563.4_Missense_Mutation_p.P342S|SP140L_ENST00000243810.6_Missense_Mutation_p.P377S|SP140L_ENST00000444636.1_Missense_Mutation_p.P377S	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	377			P -> S (in dbSNP:rs7590429).			nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTAATCCTCCAAGAATATA	0.353													C|||	2087	0.416733	0.4811	0.3919	5008	,	,		19709	0.2143		0.4404	False		,,,				2504	0.5317				p.P377S		Atlas-SNP	.											.	SP140L	68	.	0			c.C1129T						PASS	.	C	SER/PRO	1657,2025		374,909,558	64	63	63		1129	2.1	0.1	2	dbSNP_116	63	3556,4600		781,1994,1303	yes	missense	SP140L	NM_138402.4	74	1155,2903,1861	TT,TC,CC		43.5998,45.0027,44.0362	benign	377/581	231258150	5213,6625	1841	4078	5919	SO:0001583	missense	93349	exon13			AATCCTCCAAGAA	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1129C>T	2.37:g.231258150C>T	ENSP00000397911:p.Pro377Ser	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	27	0.586957	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	812	0.3717948717948718	223	0.4532520325203252	131	0.36187845303867405	133	0.23251748251748253	325	0.4287598944591029	C	8.266	0.812214	0.16537	0.450027	0.435998	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.94	2.13	0.27403	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;B	0.27625	0.183;0.089	B;B	0.32393	0.145;0.068	T	0.41645	-0.9497	8	0.38643	T	0.18	.	6.5031	0.22180	0.0:0.7764:0.0:0.2236	rs7590429;rs52792690;rs56807857;rs7590429	342;377	Q9H930-2;Q9H930-4	.;.	S	377;377;377;342	ENSP00000395195:P377S;ENSP00000397911:P377S;ENSP00000243810:P377S;ENSP00000379811:P342S	ENSP00000243810:P377S	P	+	1	0	SP140L	230966394	0.081000	0.21417	0.055000	0.19348	0.004000	0.04260	1.716000	0.37981	0.436000	0.26393	-0.966000	0.02617	CCA	C|0.605;T|0.395	0.395	strong		0.353	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		T	231258150	C	T	231258150	3	4	22	1	0	0	0	0	1	0	0	0	14963	855	30	2	1179	2	SP140L	2	231258150	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1338	231258150	11941223	1843	6951										
SP100	6672	hgsc.bcm.edu	37	chr2	231380146	231380146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggatgtggaataacaccGctgcagctgacaagcagttt	12	9	0	1	rs61733089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231380146G>A	ENST00000264052.5	+	25	2786	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	811					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAATAACACCGCTGCAGCTGA	0.433													G|||	41	0.0081869	0.0287	0.0043	5008	,	,		19980	0.0		0.0	False		,,,				2504	0.0				p.A811T		Atlas-SNP	.											.	SP100	167	.	0			c.G2431A						PASS	.	G	,THR/ALA	125,4281	89.2+/-127.9	1,123,2079	47	49	49		,2431	0.2	0.1	2	dbSNP_129	49	0,8600		0,0,4300	yes	intron,missense	SP100	NM_001080391.1,NM_003113.3	,58	1,123,6379	AA,AG,GG		0.0,2.837,0.9611	,	,811/880	231380146	125,12881	2203	4300	6503	SO:0001583	missense	6672	exon25			AACACCGCTGCAG	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2431G>A	2.37:g.231380146G>A	ENSP00000264052:p.Ala811Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	78	40	0.512821	NM_003113	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	13	0.005952380952380952	11	0.022357723577235773	2	0.0055248618784530384	0	0.0	0	0.0	G	9.783	1.175944	0.21704	0.02837	0.0	ENSG00000067066	ENST00000264052	D	0.93189	-3.18	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.69949	0.3168	L	0.33485	1.01	0.43347	D	0.995409	P	0.42078	0.77	B	0.34346	0.18	T	0.73636	-0.3920	9	0.87932	D	0	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	rs61733089	811	P23497	SP100_HUMAN	T	811	ENSP00000264052:A811T	ENSP00000264052:A811T	A	+	1	0	SP100	231088390	0.000000	0.05858	0.057000	0.19452	0.058000	0.15608	-0.122000	0.10627	0.202000	0.20498	0.205000	0.17691	GCT	G|0.991;A|0.009	0.009	strong		0.433	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		A	231380146	G	A	231380146	3	1	22	1	0	0	0	0	1	0	0	0	14960	1087	38	1	2529	1	SP100	2	231380146	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121996	231380146	11819227	1844	6952										
GPR55	9290	hgsc.bcm.edu	37	chr2	231775371	231775371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgcttccgtacatgctgaCgaagtaaaggcactccacca	9	13	0	1	rs80290067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:231775371C>T	ENST00000392040.1	-	2	499	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	GPR55_ENST00000392039.2_Missense_Mutation_p.V103I|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	103					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TACATGCTGACGAAGTAAAGG	0.597													c|||	144	0.028754	0.1051	0.0072	5008	,	,		21034	0.0		0.0	False		,,,				2504	0.0				p.V103I		Atlas-SNP	.											.	GPR55	46	.	0			c.G307A						PASS	.	C	ILE/VAL	423,3983	197.1+/-221.3	26,371,1806	66	44	52		307	-5.3	0.7	2	dbSNP_131	52	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GPR55	NM_005683.3	29	26,376,6101	TT,TC,CC		0.0581,9.6005,3.2908	benign	103/320	231775371	428,12578	2203	4300	6503	SO:0001583	missense	9290	exon2			TGCTGACGAAGTA	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.307G>A	2.37:g.231775371C>T	ENSP00000375894:p.Val103Ile	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	47	20	0.425532	NM_005683	Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	CCDS2480.1	53	0.024267399267399268	49	0.09959349593495935	4	0.011049723756906077	0	0.0	0	0.0	c	0.687	-0.795929	0.02862	0.096005	5.81E-4	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.72835	-0.69;-0.69;-0.69	5.38	-5.31	0.02730	GPCR, rhodopsin-like superfamily (1);	0.408961	0.25774	N	0.028383	T	0.01254	0.0041	N	0.12569	0.235	0.24899	N	0.992118	B	0.17465	0.022	B	0.15870	0.014	T	0.13442	-1.0509	10	0.02654	T	1	-33.6109	12.2542	0.54615	0.0:0.5177:0.0:0.4823	.	103	Q9Y2T6	GPR55_HUMAN	I	103	ENSP00000375894:V103I;ENSP00000375893:V103I;ENSP00000412768:V103I	ENSP00000375893:V103I	V	-	1	0	GPR55	231483615	0.000000	0.05858	0.728000	0.30774	0.241000	0.25554	-0.686000	0.05161	-0.943000	0.03691	-1.598000	0.00824	GTC	C|0.971;T|0.029	0.029	strong		0.597	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		T	231775371	C	T	231775371	3	4	22	1	0	0	0	0	1	0	0	0	6699	536	19	1	656	1	GPR55	2	231775371	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	395225	231775371	11424002	1845	6953										
ARMC9	80210	hgsc.bcm.edu	37	chr2	232072912	232072912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaataaaaggaaaaccaTtgtgtaaaacagtaggcgga	10	5	0	0	rs11558174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:232072912T>C	ENST00000349938.4	+	3	318	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	42						extracellular vesicular exosome (GO:0070062)		p.L42L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGAAAACCATTGTGTAAAAC	0.299													T|||	1242	0.248003	0.3563	0.2349	5008	,	,		18620	0.1409		0.2853	False		,,,				2504	0.183				p.L42L		Atlas-SNP	.											ARMC9_ENST00000359743,NS,carcinoma,0,2	ARMC9	129	2	2	Substitution - coding silent(2)	stomach(2)	c.T124C						PASS	.	T		1601,2803	494.6+/-363.0	285,1031,886	80	81	80		124	-2.8	0	2	dbSNP_120	80	2199,6401	374.2+/-337.3	281,1637,2382	no	coding-synonymous	ARMC9	NM_025139.3		566,2668,3268	CC,CT,TT		25.5698,36.3533,29.2218		42/666	232072912	3800,9204	2202	4300	6502	SO:0001819	synonymous_variant	80210	exon3			AAACCATTGTGTA	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.124T>C	2.37:g.232072912T>C		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	227	109	0.480176	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	CCDS2484.1																																																																																			T|0.713;C|0.287	0.287	strong		0.299	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		C	232072912	T	C	232072912	2	2	22	1	0	0	0	0	0	0	0	1	958	1490	52	2		2	ARMC9	2	232072912	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	297541	232072912	11126461	1846	6954										
B3GNT7	93010	hgsc.bcm.edu	37	chr2	232263127	232263127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacatctactgcccccacGtccccttcattttcaaaggc	6	16	3	0	rs2290130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:232263127G>A	ENST00000287590.5	+	2	958	c.697G>A	c.(697-699)Gtc>Atc	p.V233I		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	233			V -> I (in dbSNP:rs2290130).		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTGCCCCCACGTCCCCTTCAT	0.557													G|||	1168	0.233227	0.1551	0.2378	5008	,	,		17143	0.2381		0.2833	False		,,,				2504	0.2791				p.V233I		Atlas-SNP	.											.	B3GNT7	38	.	0			c.G697A						PASS	.	G	ILE/VAL	642,3600		55,532,1534	102	110	108		697	3.8	0.4	2	dbSNP_100	108	2069,6407		260,1549,2429	yes	missense	B3GNT7	NM_145236.2	29	315,2081,3963	AA,AG,GG		24.4101,15.1344,21.3162	benign	233/402	232263127	2711,10007	2121	4238	6359	SO:0001583	missense	93010	exon2			CCCCACGTCCCCT	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.697G>A	2.37:g.232263127G>A	ENSP00000287590:p.Val233Ile	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	201	113	0.562189	NM_145236	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	519	0.23763736263736263	90	0.18292682926829268	77	0.212707182320442	132	0.23076923076923078	220	0.29023746701846964	G	13.31	2.200387	0.38905	0.151344	0.244101	ENSG00000156966	ENST00000287590	T	0.41065	1.01	4.71	3.84	0.44239	.	0.343906	0.30168	N	0.010260	T	0.00012	0.0000	L	0.52126	1.63	0.50632	P	1.1399999999994748E-4	P	0.52577	0.954	B	0.39339	0.297	T	0.30851	-0.9964	9	0.36615	T	0.2	.	10.276	0.43510	0.167:0.0:0.833:0.0	rs2290130;rs17612615;rs52793391;rs58977067;rs2290130	233	Q8NFL0	B3GN7_HUMAN	I	233	ENSP00000287590:V233I	ENSP00000287590:V233I	V	+	1	0	B3GNT7	231971371	1.000000	0.71417	0.374000	0.26016	0.925000	0.55904	4.133000	0.57983	0.988000	0.38734	0.655000	0.94253	GTC	G|0.763;A|0.237	0.237	strong		0.557	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		A	232263127	G	A	232263127	3	1	22	1	0	0	0	0	1	0	0	0	1262	1145	40	1	703	1	B3GNT7	2	232263127	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190215	232263127	10936246	1847	6955										
NCL	4691	hgsc.bcm.edu	37	chr2	232320281	232320281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatttcaccgtcttccatGgcctccttggcagctttggc	8	14	3	0	rs78372304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:232320281G>A	ENST00000322723.4	-	13	2127	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	629	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CGTCTTCCATGGCCTCCTTGG	0.488													.|||	26	0.00519169	0.0189	0.0014	5008	,	,		21137	0.0		0.0	False		,,,				2504	0.0				p.A629A		Atlas-SNP	.											.	NCL	80	.	0			c.C1887T						PASS	.	G		73,4333	65.3+/-102.7	2,69,2132	209	222	218		1887	2.1	1	2	dbSNP_131	218	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NCL	NM_005381.2		2,71,6430	AA,AG,GG		0.0233,1.6568,0.5767		629/711	232320281	75,12931	2203	4300	6503	SO:0001819	synonymous_variant	4691	exon13			TTCCATGGCCTCC		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1887C>T	2.37:g.232320281G>A		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	210	109	0.519048	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																			G|0.994;A|0.006	0.006	strong		0.488	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		A	232320281	G	A	232320281	2	1	22	1	0	0	0	0	0	0	0	1	10226	1335	47	2		2	NCL	2	232320281	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57154	232320281	10879092	1848	6956										
NCL	4691	hgsc.bcm.edu	37	chr2	232326417	232326417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcctcactgtcatcatcCtcctcttcatcactgtcttc	2	18	7	0	rs1131171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:232326417C>T	ENST00000322723.4	-	3	687	c.447G>A	c.(445-447)gaG>gaA	p.E149E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	149	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tgtcatcatcctcctcttcat	0.522													.|||	2088	0.416933	0.4818	0.3141	5008	,	,		26008	0.5992		0.2018	False		,,,				2504	0.4356				p.E149E		Atlas-SNP	.											.	NCL	80	.	0			c.G447A						PASS	.	C		1981,2425	557.3+/-379.7	441,1099,663	469	282	345		447	-3.4	0.2	2	dbSNP_86	345	1570,7030	293.4+/-301.3	143,1284,2873	no	coding-synonymous	NCL	NM_005381.2		584,2383,3536	TT,TC,CC		18.2558,44.9614,27.3028		149/711	232326417	3551,9455	2203	4300	6503	SO:0001819	synonymous_variant	4691	exon3			ATCATCCTCCTCT		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.447G>A	2.37:g.232326417C>T		Somatic	419	0	0		WXS	Illumina HiSeq	Phase_I	444	196	0.441441	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																			C|0.662;T|0.338	0.338	strong		0.522	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		T	232326417	C	T	232326417	2	4	22	1	0	0	0	0	0	0	0	1	10226	680	24	2		2	NCL	2	232326417	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6136	232326417	10872956	1849	6957										
ALPPL2	251	hgsc.bcm.edu	37	chr2	233271852	233271852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagcctgcacagacagcCgccaagaacctcatcatctt	7	16	3	2	rs61730280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233271852C>T	ENST00000295453.3	+	2	205	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	51					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CACAGACAGCCGCCAAGAACC	0.672													c|||	45	0.00898562	0.034	0.0	5008	,	,		15470	0.0		0.0	False		,,,				2504	0.0				p.A51A		Atlas-SNP	.											.	ALPPL2	36	.	0			c.C153T						PASS	.	C		143,4263	100.7+/-139.4	0,143,2060	67	81	76		153	-2.5	0.2	2	dbSNP_129	76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ALPPL2	NM_031313.2		0,145,6358	TT,TC,CC		0.0233,3.2456,1.1149		51/533	233271852	145,12861	2203	4300	6503	SO:0001819	synonymous_variant	251	exon2			GACAGCCGCCAAG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.153C>T	2.37:g.233271852C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	116	54	0.465517	NM_031313	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																			C|0.990;T|0.010	0.010	strong		0.672	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233271852	C	T	233271852	2	4	22	1	0	0	0	0	0	0	0	1	549	639	23	1		1	ALPPL2	2	233271852	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	945435	233271852	9927521	1850	6958										
ALPI	248	hgsc.bcm.edu	37	chr2	233323000	233323000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcggtcatgttcgacgaCgccattgagagggcgggcca	17	10	1	1	rs10195208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233323000C>T	ENST00000295463.3	+	9	1142	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	355					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTTCGACGACGCCATTGAGA	0.627													C|||	253	0.0505192	0.1884	0.0058	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.0				p.D355D		Atlas-SNP	.											ALPI,NS,carcinoma,+2,1	ALPI	64	1	0			c.C1065T						PASS	.	C		624,3782	271.6+/-270.3	39,546,1618	86	76	79		1065	-8.9	0	2	dbSNP_119	79	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	ALPI	NM_001631.3		39,554,5910	TT,TC,CC		0.093,14.1625,4.8593		355/529	233323000	632,12374	2203	4300	6503	SO:0001819	synonymous_variant	248	exon9			CGACGACGCCATT	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1065C>T	2.37:g.233323000C>T		Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	266	128	0.481203	NM_001631	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	CCDS2492.1																																																																																			C|0.950;T|0.050	0.050	strong		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		T	233323000	C	T	233323000	2	4	22	1	0	0	0	0	0	0	0	1	543	535	19	1		1	ALPI	2	233323000	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51148	233323000	9876373	1851	6959										
EFHD1	80303	hgsc.bcm.edu	37	chr2	233498669	233498669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccctacacggagttcccGgagttcagccgccgcctcat	9	17	2	0	rs2276557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233498669G>T	ENST00000264059.3	+	1	732	c.255G>T	c.(253-255)ccG>ccT	p.P85P	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	85					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)		CGGAGTTCCCGGAGTTCAGCC	0.701													G|||	1213	0.242212	0.1286	0.1571	5008	,	,		9824	0.6329		0.1899	False		,,,				2504	0.1074				p.P85P		Atlas-SNP	.											.	EFHD1	28	.	0			c.G255T						PASS	.	G		572,3778		37,498,1640	16	19	18		255	-3.3	0.9	2	dbSNP_100	18	1649,6885		159,1331,2777	no	coding-synonymous	EFHD1	NM_025202.3		196,1829,4417	TT,TG,GG		19.3227,13.1494,17.2384		85/240	233498669	2221,10663	2175	4267	6442	SO:0001819	synonymous_variant	80303	exon1			GTTCCCGGAGTTC		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.255G>T	2.37:g.233498669G>T		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	9	5	0.555556	NM_025202	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	CCDS2497.1																																																																																			G|0.726;T|0.274	0.274	strong		0.701	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		T	233498669	G	T	233498669	2	4	22	1	0	0	0	0	0	0	0	1	4948	1103	39	4		4	EFHD1	2	233498669	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	175669	233498669	9700704	1852	6960										
GIGYF2	26058	hgsc.bcm.edu	37	chr2	233708806	233708806	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcttcagcagcagcagcaAcagcaacagcagaaactctc	8	14	3	1	rs3816334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233708806A>G	ENST00000409547.1	+	26	3251	c.2940A>G	c.(2938-2940)caA>caG	p.Q980Q	GIGYF2_ENST00000409480.1_Silent_p.Q1002Q|GIGYF2_ENST00000373563.4_Silent_p.Q980Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.T823A|GIGYF2_ENST00000409196.3_Silent_p.Q974Q|GIGYF2_ENST00000373566.3_Silent_p.Q1002Q|GIGYF2_ENST00000409451.3_Silent_p.Q1001Q	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	980	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		agcagcagcaacagcaacagc	0.483													G|||	3207	0.640375	0.7595	0.6945	5008	,	,		16531	0.6458		0.7137	False		,,,				2504	0.3599				p.Q1001Q		Atlas-SNP	.											GIGYF2_ENST00000409451,colon,carcinoma,0,2	GIGYF2	288	2	0			c.A3003G						PASS	.	G	,,,	3241,1165	396.7+/-330.2	1195,851,157	43	44	44		2940,3003,2922,2940	2.3	1	2	dbSNP_107	44	5577,3021	445.9+/-361.1	1813,1951,535	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GIGYF2	NM_001103146.1,NM_001103147.1,NM_001103148.1,NM_015575.3	,,,	3008,2802,692	GG,GA,AA		35.1361,26.4412,32.1901	,,,	980/1300,1001/1321,974/1294,980/1300	233708806	8818,4186	2203	4299	6502	SO:0001819	synonymous_variant	26058	exon26			GCAGCAACAGCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2940A>G	2.37:g.233708806A>G		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	235	234	0.995745	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1	1557	0.7129120879120879	366	0.7439024390243902	257	0.7099447513812155	391	0.6835664335664335	543	0.716358839050132	G	0.410	-0.913782	0.02415	0.735588	0.648639	ENSG00000204120	ENST00000452341	T	0.79033	-1.23	5.17	2.29	0.28610	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.47441	P	5.749999999999922E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	7	0.87932	D	0	-11.8084	5.7189	0.17976	0.2827:0.0:0.5921:0.1252	rs3816334;rs17846516;rs17859588;rs60210793;rs3816334	823	E9PC50	.	A	823	ENSP00000411505:T823A	ENSP00000411505:T823A	T	+	1	0	GIGYF2	233417050	1.000000	0.71417	0.969000	0.41365	0.650000	0.38633	0.963000	0.29293	0.185000	0.20105	-0.215000	0.12644	ACA	A|0.313;G|0.687	0.687	strong		0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		G	233708806	A	G	233708806	2	3	22	1	0	0	0	0	0	0	0	1	6378	40	2	2		2	GIGYF2	2	233708806	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	210137	233708806	9490567	1853	6961										
NGEF	25791	hgsc.bcm.edu	37	chr2	233757679	233757679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtagacagagaagtggtcGgccgcataacggtacacaat	12	8	0	2	rs748002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233757679G>A	ENST00000264051.3	-	7	1349	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	NGEF_ENST00000539537.1_Silent_p.A80A|NGEF_ENST00000373552.4_Silent_p.A265A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		AGAAGTGGTCGGCCGCATAAC	0.567													G|||	1504	0.300319	0.2791	0.3963	5008	,	,		20098	0.3492		0.326	False		,,,				2504	0.184				p.A357A		Atlas-SNP	.											NGEF_ENST00000264051,caecum,carcinoma,-1,4	NGEF	198	4	0			c.C1071T						PASS	.	G	,	1260,3146	430.6+/-342.6	172,916,1115	192	157	169		795,1071	3.5	1	2	dbSNP_86	169	2603,5997	420.7+/-353.5	398,1807,2095	no	coding-synonymous,coding-synonymous	NGEF	NM_001114090.1,NM_019850.2	,	570,2723,3210	AA,AG,GG		30.2674,28.5974,29.7017	,	265/619,357/711	233757679	3863,9143	2203	4300	6503	SO:0001819	synonymous_variant	25791	exon7			GTGGTCGGCCGCA	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1071C>T	2.37:g.233757679G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	151	79	0.523179	NM_019850	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	CCDS2500.1	740	0.33882783882783885	134	0.27235772357723576	134	0.3701657458563536	221	0.38636363636363635	251	0.3311345646437995	G	2.595	-0.294311	0.05568	0.285974	0.302674	ENSG00000066248	ENST00000420650	.	.	.	5.28	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.58432	P	4.000000000004E-6	.	.	.	.	.	.	.	.	.	.	.	.	.	-33.2265	5.3969	0.16275	0.2597:0.1473:0.593:0.0	rs748002;rs16829683;rs17852957;rs748002	.	.	.	X	150	.	.	R	-	1	2	NGEF	233465923	0.000000	0.05858	0.987000	0.45799	0.327000	0.28475	-0.253000	0.08794	0.597000	0.29811	0.561000	0.74099	CGA	G|0.695;A|0.305	0.305	strong		0.567	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233757679	G	A	233757679	2	1	22	1	0	0	0	0	0	0	0	1	10394	1103	39	1		1	NGEF	2	233757679	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48873	233757679	9441694	1854	6962										
NEU2	4759	hgsc.bcm.edu	37	chr2	233899148	233899148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgacagggcccggagcctggTggtgcccgcctacgcctacc	14	17	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233899148T>C	ENST00000233840.3	+	2	524	c.524T>C	c.(523-525)gTg>gCg	p.V175A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	175					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CGGAGCCTGGTGGTGCCCGCC	0.657																																					p.V175A		Atlas-SNP	.											.	NEU2	42	.	0			c.T524C						PASS	.																																			SO:0001583	missense	4759	exon2			GCCTGGTGGTGCC	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.524T>C	2.37:g.233899148T>C	ENSP00000233840:p.Val175Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	104	48	0.461538	NM_005383	Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120495	0.77323	.	.	ENSG00000115488	ENST00000233840	D	0.85955	-2.05	4.88	4.88	0.63580	Neuraminidase (2);	0.234313	0.29707	N	0.011404	D	0.90113	0.6911	L	0.60455	1.87	0.38849	D	0.956227	D	0.65815	0.995	D	0.70487	0.969	D	0.91831	0.5475	10	0.87932	D	0	-13.5728	13.6972	0.62587	0.0:0.0:0.0:1.0	.	175	Q9Y3R4	NEUR2_HUMAN	A	175	ENSP00000233840:V175A	ENSP00000233840:V175A	V	+	2	0	NEU2	233607392	1.000000	0.71417	0.994000	0.49952	0.610000	0.37248	7.783000	0.85696	1.821000	0.53095	0.459000	0.35465	GTG	.	.	none		0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		C	233899148	T	C	233899148	3	2	22	1	0	0	0	0	1	0	0	0	10342	1696	59	2	530	2	NEU2	2	233899148	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	141469	233899148	9300225	1855	6963										
NEU2	4759	hgsc.bcm.edu	37	chr2	233899377	233899377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcccagagcaccaatgaCgggcttgatttccaggagtc	12	12	0	3	rs2233394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:233899377C>T	ENST00000233840.3	+	2	753	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	251					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCACCAATGACGGGCTTGATT	0.667													C|||	940	0.1877	0.2738	0.2637	5008	,	,		17388	0.123		0.0845	False		,,,				2504	0.1902				p.D251D		Atlas-SNP	.											.	NEU2	42	.	0			c.C753T						PASS	.	C		1121,3283	379.2+/-323.2	144,833,1225	27	28	27		753	-3.5	0	2	dbSNP_98	27	898,7700	193.5+/-239.2	42,814,3443	no	coding-synonymous	NEU2	NM_005383.2		186,1647,4668	TT,TC,CC		10.4443,25.4541,15.5284		251/381	233899377	2019,10983	2202	4299	6501	SO:0001819	synonymous_variant	4759	exon2			CAATGACGGGCTT	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.753C>T	2.37:g.233899377C>T		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	226	119	0.526549	NM_005383	Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	CCDS2501.1																																																																																			C|0.833;T|0.167	0.167	strong		0.667	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		T	233899377	C	T	233899377	2	4	22	1	0	0	0	0	0	0	0	1	10342	535	19	1		1	NEU2	2	233899377	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	229	233899377	9299996	1856	6964										
ATG16L1	55054	hgsc.bcm.edu	37	chr2	234183368	234183368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccccaggacaatgtggatActcatcctggttctggtaaa	9	11	2	0	rs2241880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234183368A>G	ENST00000392017.4	+	9	1155	c.898A>G	c.(898-900)Act>Gct	p.T300A	ATG16L1_ENST00000498620.1_3'UTR|SCARNA5_ENST00000516201.1_RNA|ATG16L1_ENST00000373525.5_Missense_Mutation_p.T156A|ATG16L1_ENST00000392020.4_Missense_Mutation_p.T281A|ATG16L1_ENST00000392018.1_Missense_Mutation_p.T317A|ATG16L1_ENST00000347464.5_Missense_Mutation_p.T137A	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	300			T -> A (associated with susceptibility to IBD10; has no effect on the stability of the protein; enhances the cleavage and the degradation mediated by activated CASP3; results in reduced autophagy and defective clearance of intestinal pathogens; dbSNP:rs2241880). {ECO:0000269|PubMed:15620219}.		autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAATGTGGATACTCATCCTGG	0.473													A|||	1983	0.395966	0.3101	0.3213	5008	,	,		21225	0.3224		0.5368	False		,,,				2504	0.4959				p.T300A		Atlas-SNP	.											.	ATG16L1	83	.	0			c.A898G	GRCh37	CM070026	ATG16L1	M	rs2241880	PASS	.	A	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1428,2978	465.9+/-354.3	234,960,1009	181	149	160	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	646,550,841,898,409	-11.4	0	2	dbSNP_98	160	4506,4094	592.4+/-393.0	1198,2110,992	yes	missense,missense,missense,missense,missense	ATG16L1	NM_001190266.1,NM_001190267.1,NM_017974.3,NM_030803.6,NM_198890.2	58,58,58,58,58	1432,3070,2001	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	47.6047,32.4103,45.6251	benign,benign,benign,benign,benign	216/524,184/492,281/589,300/608,137/445	234183368	5934,7072	2203	4300	6503	SO:0001583	missense	55054	exon9			GTGGATACTCATC	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.898A>G	2.37:g.234183368A>G	ENSP00000375872:p.Thr300Ala	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	198	106	0.535354	NM_030803	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	851	0.38965201465201466	123	0.25	136	0.3756906077348066	190	0.3321678321678322	402	0.5303430079155673	A	10.98	1.504884	0.26949	0.324103	0.523953	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000444735;ENST00000373525;ENST00000419681;ENST00000392020;ENST00000392018	T;T;T;T;T;T;T	0.48522	0.88;0.92;1.09;0.99;1.71;0.81;0.91	5.71	-11.4	0.00090	WD40 repeat-like-containing domain (1);	1.946940	0.02287	N	0.069914	T	0.00012	0.0000	N	0.04203	-0.255	0.47341	P	6.049999999999667E-4	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.0;0.001;0.005;0.0;0.001	T	0.27536	-1.0071	9	0.14252	T	0.57	.	12.6604	0.56811	0.1798:0.4806:0.3396:0.0	rs2241880;rs17607702;rs52836811;rs57853061;rs2241880	254;281;156;300;137	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	A	300;137;173;156;137;281;317	ENSP00000375872:T300A;ENSP00000318259:T137A;ENSP00000409215:T173A;ENSP00000362625:T156A;ENSP00000398773:T137A;ENSP00000375875:T281A;ENSP00000375873:T317A	ENSP00000318259:T137A	T	+	1	0	ATG16L1	233848107	0.000000	0.05858	0.001000	0.08648	0.985000	0.73830	-0.395000	0.07287	-1.999000	0.00967	0.528000	0.53228	ACT	G|0.422;N|0.000	0.422	strong		0.473	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		G	234183368	A	G	234183368	3	3	22	1	0	0	0	0	1	0	0	0	1091	391	14	2	932	2	ATG16L1	2	234183368	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	283991	234183368	9016005	1857	6965										
SAG	6295	hgsc.bcm.edu	37	chr2	234229320	234229320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgctatggccaagaggacAttgacgtgatcggcttgacc	12	11	0	4	rs7565275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234229320A>G	ENST00000409110.1	+	5	456	c.226A>G	c.(226-228)Att>Gtt	p.I76V	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	76			I -> V (in dbSNP:rs7565275). {ECO:0000269|PubMed:7670478, ECO:0000269|PubMed:9501883}.		cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCAAGAGGACATTGACGTGAT	0.617													A|||	373	0.0744808	0.1142	0.0403	5008	,	,		19037	0.0298		0.0517	False		,,,				2504	0.1145				p.I76V		Atlas-SNP	.											.	SAG	77	.	0			c.A226G						PASS	.	A	VAL/ILE	388,3848		22,344,1752	35	38	37		226	4.5	1	2	dbSNP_116	37	437,8091		11,415,3838	yes	missense	SAG	NM_000541.4	29	33,759,5590	GG,GA,AA		5.1243,9.1596,6.4635	benign	76/406	234229320	825,11939	2118	4264	6382	SO:0001583	missense	6295	exon5			GAGGACATTGACG		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.226A>G	2.37:g.234229320A>G	ENSP00000386444:p.Ile76Val	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_000541	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	131	0.059981684981684984	60	0.12195121951219512	13	0.03591160220994475	16	0.027972027972027972	42	0.055408970976253295	A	14.54	2.565381	0.45694	0.091596	0.051243	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110	T;T	0.29397	1.57;1.57	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.143283	0.64402	D	0.000006	T	0.00784	0.0026	L	0.50919	1.6	0.09310	P	1.0	P	0.41159	0.74	P	0.56612	0.802	T	0.04400	-1.0954	9	0.51188	T	0.08	-30.9562	14.2245	0.65850	1.0:0.0:0.0:0.0	rs7565275;rs7565275	76	P10523	ARRS_HUMAN	V	76	ENSP00000408937:I76V;ENSP00000386444:I76V	ENSP00000252857:I76V	I	+	1	0	SAG	233894059	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	2.276000	0.43408	2.003000	0.58678	0.533000	0.62120	ATT	A|0.937;G|0.063	0.063	strong		0.617	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		G	234229320	A	G	234229320	3	3	22	1	0	0	0	0	1	0	0	0	13808	217	8	2	240	2	SAG	2	234229320	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45952	234229320	8970053	1858	6966										
SAG	6295	hgsc.bcm.edu	37	chr2	234235820	234235820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacagacagcaccgatgcCgaagaggacaaaatccccaa	9	14	0	2	rs2304773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234235820C>T	ENST00000409110.1	+	7	719	c.489C>T	c.(487-489)gcC>gcT	p.A163A	SAG_ENST00000449594.2_Silent_p.A29A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	163					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GCACCGATGCCGAAGAGGACA	0.567													C|||	532	0.10623	0.2171	0.0793	5008	,	,		19748	0.0377		0.1004	False		,,,				2504	0.0521				p.A163A		Atlas-SNP	.											.	SAG	77	.	0			c.C489T						PASS	.	C		745,3379		70,605,1387	128	129	129		489	-7.9	0	2	dbSNP_100	129	874,7518		42,790,3364	no	coding-synonymous	SAG	NM_000541.4		112,1395,4751	TT,TC,CC		10.4147,18.065,12.9354		163/406	234235820	1619,10897	2062	4196	6258	SO:0001819	synonymous_variant	6295	exon7			CGATGCCGAAGAG		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.489C>T	2.37:g.234235820C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	114	59	0.517544	NM_000541	A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	CCDS46545.1																																																																																			C|0.893;T|0.107	0.107	strong		0.567	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		T	234235820	C	T	234235820	2	4	22	1	0	0	0	0	0	0	0	1	13808	639	23	1		1	SAG	2	234235820	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6500	234235820	8963553	1859	6967										
SAG	6295	hgsc.bcm.edu	37	chr2	234255548	234255548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagagacaagaatgacgTtgatgagtgaagatgtcggc	15	4	0	8	rs1046976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234255548T>C	ENST00000409110.1	+	16	1438	c.1208T>C	c.(1207-1209)gTt>gCt	p.V403A		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	403			V -> A (in dbSNP:rs1046976). {ECO:0000269|PubMed:3164688, ECO:0000269|PubMed:9020843}.|V -> I (in dbSNP:rs1046974).		cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAGAATGACGTTGATGAGTGA	0.458													T|||	702	0.140176	0.2625	0.1095	5008	,	,		20863	0.0466		0.0855	False		,,,				2504	0.1493				p.V403A		Atlas-SNP	.											.	SAG	77	.	0			c.T1208C						PASS	.	T	ALA/VAL	928,3088		109,710,1189	90	96	94		1208	-8.8	0	2	dbSNP_86	94	693,7661		27,639,3511	yes	missense	SAG	NM_000541.4	64	136,1349,4700	CC,CT,TT		8.2954,23.1076,13.1043	benign	403/406	234255548	1621,10749	2008	4177	6185	SO:0001583	missense	6295	exon16			ATGACGTTGATGA		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1208T>C	2.37:g.234255548T>C	ENSP00000386444:p.Val403Ala	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	87	42	0.482759	NM_000541	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	266	0.12179487179487179	143	0.29065040650406504	35	0.09668508287292818	27	0.0472027972027972	61	0.08047493403693931	t	0.955	-0.705056	0.03255	0.231076	0.082954	ENSG00000130561	ENST00000252857;ENST00000409110	T	0.06849	3.25	4.39	-8.79	0.00820	.	2.199560	0.02549	N	0.095496	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	9	0.08837	T	0.75	6.8364	2.8869	0.05664	0.2015:0.3507:0.3189:0.1289	rs1046976;rs3186970;rs52808946;rs1046976	403	P10523	ARRS_HUMAN	A	403	ENSP00000386444:V403A	ENSP00000252857:V403A	V	+	2	0	SAG	233920287	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.364000	0.07583	-2.003000	0.00962	-1.569000	0.00873	GTT	T|0.869;C|0.131	0.131	strong		0.458	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		C	234255548	T	C	234255548	3	2	22	1	0	0	0	0	1	0	0	0	13808	1725	60	2	1266	2	SAG	2	234255548	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19728	234255548	8943825	1860	6968										
USP40	55230	hgsc.bcm.edu	37	chr2	234386134	234386134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgtagctgctctgctcAtggagggcttcttggctgca	14	9	3	0	rs2971863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234386134A>G	ENST00000427112.2	-	31	3647	c.3612T>C	c.(3610-3612)caT>caC	p.H1204H	USP40_ENST00000450966.1_Silent_p.H1216H|USP40_ENST00000251722.6_Silent_p.H1204H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1204					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)		TGCTCTGCTCATGGAGGGCTT	0.582													G|||	1283	0.25619	0.5053	0.1542	5008	,	,		18552	0.1438		0.2455	False		,,,				2504	0.1186				p.H1216H		Atlas-SNP	.											.	USP40	174	.	0			c.T3648C						PASS	.	G		1725,2407		364,997,705	53	59	57		3648	-5.2	0	2	dbSNP_101	57	1772,6656		190,1392,2632	no	coding-synonymous	USP40	NM_018218.2		554,2389,3337	GG,GA,AA		21.0252,41.7473,27.8424		1216/1248	234386134	3497,9063	2066	4214	6280	SO:0001819	synonymous_variant	55230	exon31			CTGCTCATGGAGG	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.3612T>C	2.37:g.234386134A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	91	29	0.318681	NM_018218	Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1																																																																																			A|0.746;G|0.254	0.254	strong		0.582	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		G	234386134	A	G	234386134	2	3	22	1	0	0	0	0	0	0	0	1	17069	214	8	2		2	USP40	2	234386134	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130586	234386134	8813239	1861	6969										
USP40	55230	hgsc.bcm.edu	37	chr2	234394487	234394487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcttctccacgggaagacGatagaaatcggcaactctct	8	11	3	2	rs1048603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234394487G>A	ENST00000427112.2	-	28	3366	c.3331C>T	c.(3331-3333)Cgt>Tgt	p.R1111C	USP40_ENST00000450966.1_Missense_Mutation_p.R1123C|USP40_ENST00000251722.6_Missense_Mutation_p.R1111C|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1111			R -> C (in dbSNP:rs1048603).		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)		ACGGGAAGACGATAGAAATCG	0.562													A|||	2004	0.40016	0.7489	0.2709	5008	,	,		17737	0.1944		0.3618	False		,,,				2504	0.272				p.R1123C		Atlas-SNP	.											.	USP40	174	.	0			c.C3367T						PASS	.	A	CYS/ARG	2480,1328		819,842,243	21	24	23		3367	-2.4	0	2	dbSNP_86	23	2595,5643		414,1767,1938	yes	missense	USP40	NM_018218.2	180	1233,2609,2181	AA,AG,GG		31.5004,34.8739,42.1302	benign	1123/1248	234394487	5075,6971	1904	4119	6023	SO:0001583	missense	55230	exon28			GAAGACGATAGAA	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.3331C>T	2.37:g.234394487G>A	ENSP00000387898:p.Arg1111Cys	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	238	238	1	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	805	0.3685897435897436	351	0.7134146341463414	96	0.26519337016574585	96	0.16783216783216784	262	0.34564643799472294	A	7.624	0.677480	0.14841	0.651261	0.315004	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04603	3.59;3.59;3.59	5.75	-2.41	0.06562	.	1.068780	0.07073	N	0.835760	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.22800	-1.0206	9	0.45353	T	0.12	.	12.5667	0.56314	0.429:0.5121:0.0588:0.0	rs1048603;rs3188607;rs17668936;rs52816184;rs58082988;rs1048603	1123	Q9NVE5-3	.	C	1123;1111;1111	ENSP00000415434:R1123C;ENSP00000251722:R1111C;ENSP00000387898:R1111C	ENSP00000251722:R1111C	R	-	1	0	USP40	234059226	0.316000	0.24580	0.000000	0.03702	0.138000	0.21146	0.262000	0.18460	-0.485000	0.06754	-1.189000	0.01698	CGT	G|0.604;T|0.006	.	strong		0.562	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		A	234394487	G	A	234394487	3	1	22	1	0	0	0	0	1	0	0	0	17069	1058	37	1	392	1	USP40	2	234394487	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8353	234394487	8804886	1862	6970										
USP40	55230	hgsc.bcm.edu	37	chr2	234394569	234394569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggtccagggcaggggcAtaggtcctctcaccagggat	14	12	1	0	rs386656355|rs2603547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234394569A>G	ENST00000427112.2	-	28	3284	c.3249T>C	c.(3247-3249)taT>taC	p.Y1083Y	USP40_ENST00000450966.1_Silent_p.Y1095Y|USP40_ENST00000251722.6_Silent_p.Y1083Y|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1083					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)		GGGCAGGGGCATAGGTCCTCT	0.597													G|||	1286	0.256789	0.5053	0.1542	5008	,	,		16483	0.1458		0.2455	False		,,,				2504	0.1196				p.Y1095Y		Atlas-SNP	.											.	USP40	174	.	0			c.T3285C						PASS	.	G		1637,2333		357,923,705	14	16	15		3285	2	0	2	dbSNP_100	15	1735,6567		188,1359,2604	no	coding-synonymous	USP40	NM_018218.2		545,2282,3309	GG,GA,AA		20.8986,41.2343,27.4772		1095/1248	234394569	3372,8900	1985	4151	6136	SO:0001819	synonymous_variant	55230	exon28			AGGGGCATAGGTC	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.3249T>C	2.37:g.234394569A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	117	51	0.435897	NM_018218	Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1	520	0.23809523809523808	222	0.45121951219512196	56	0.15469613259668508	67	0.11713286713286714	175	0.23087071240105542	G	0.033	-1.324183	0.01309	0.412343	0.208986	ENSG00000085982	ENST00000454354	.	.	.	5.75	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.25277	P	0.9894669	.	.	.	.	.	.	T	0.46176	-0.9210	3	.	.	.	.	10.1403	0.42732	0.4526:0.0:0.5474:0.0	rs2603547;rs3738932;rs17668948;rs56738620;rs2603547	.	.	.	T	51	.	.	M	-	2	0	USP40	234059308	0.026000	0.19158	0.004000	0.12327	0.003000	0.03518	0.191000	0.17076	-0.094000	0.12374	-1.702000	0.00720	ATG	A|0.749;G|0.251	0.251	strong		0.597	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		G	234394569	A	G	234394569	2	3	22	1	0	0	0	0	0	0	0	1	17069	224	8	2		2	USP40	2	234394569	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82	234394569	8804804	1863	6971										
USP40	55230	hgsc.bcm.edu	37	chr2	234398065	234398065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcgcttcctctccaccGtccaggctctgaggtgggct	13	15	2	1	rs34026756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234398065G>A	ENST00000427112.2	-	26	3109	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	USP40_ENST00000450966.1_Missense_Mutation_p.T1037M|USP40_ENST00000251722.6_Missense_Mutation_p.T1025M|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1025			T -> M (in dbSNP:rs34026756).		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)		CCTCTCCACCGTCCAGGCTCT	0.572													G|||	90	0.0179712	0.0658	0.0043	5008	,	,		17455	0.0		0.0	False		,,,				2504	0.0				p.T1037M		Atlas-SNP	.											USP40_ENST00000450966,NS,carcinoma,+1,2	USP40	174	2	0			c.C3110T						PASS	.	G	MET/THR	242,3748		6,230,1759	34	38	36		3110	4.6	0.9	2	dbSNP_126	36	2,8304		0,2,4151	yes	missense	USP40	NM_018218.2	81	6,232,5910	AA,AG,GG		0.0241,6.0652,1.9844	probably-damaging	1037/1248	234398065	244,12052	1995	4153	6148	SO:0001583	missense	55230	exon26			TCCACCGTCCAGG	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.3074C>T	2.37:g.234398065G>A	ENSP00000387898:p.Thr1025Met	Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	200	102	0.51	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	35|35	0.016025641025641024|0.016025641025641024	34|34	0.06910569105691057|0.06910569105691057	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	19.02|19.02	3.746166|3.746166	0.69418|0.69418	0.060652|0.060652	2.41E-4|2.41E-4	ENSG00000085982|ENSG00000085982	ENST00000454354;ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112	.|T;T;T	.|0.05580	.|3.42;3.42;3.42	5.5|5.5	4.57|4.57	0.56435|0.56435	.|.	.|0.947819	.|0.08861	.|N	.|0.883028	T|T	0.01730|0.01730	0.0055|0.0055	M|M	0.66939|0.66939	2.045|2.045	0.32511|0.32511	N|N	0.537508|0.537508	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.63957	.|0.92;0.878	T|T	0.00967|0.00967	-1.1497|-1.1497	5|10	.|0.59425	.|D	.|0.04	.|.	15.0977|15.0977	0.72247|0.72247	0.0:0.0:0.8577:0.1423|0.0:0.0:0.8577:0.1423	rs34026756|rs34026756	.|1037;685	.|Q9NVE5-3;B4DN96	.|.;.	W|M	15;201|1037;1025;1025	.|ENSP00000415434:T1037M;ENSP00000251722:T1025M;ENSP00000387898:T1025M	.|ENSP00000251722:T1025M	R|T	-|-	1|2	2|0	USP40|USP40	234062804|234062804	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.606000|0.606000	0.37113|0.37113	3.308000|3.308000	0.51896|0.51896	2.571000|2.571000	0.86741|0.86741	0.650000|0.650000	0.86243|0.86243	CGG|ACG	G|0.985;A|0.015	0.015	strong		0.572	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		A	234398065	G	A	234398065	3	1	22	1	0	0	0	0	1	0	0	0	17069	1145	40	1	657	1	USP40	2	234398065	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3496	234398065	8801308	1864	6972										
UGT1A4	54657	hgsc.bcm.edu	37	chr2	234627992	234627992	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtttttttggaggtacAttccatgtgacttagacttt	9	6	0	2	rs45540231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234627992A>T	ENST00000373409.3	+	1	569	c.526A>T	c.(526-528)Att>Ttt	p.I176F	UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	176			I -> F (in dbSNP:rs45540231).		cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TTGGAGGTACATTCCATGTGA	0.453													A|||	120	0.0239617	0.0862	0.0072	5008	,	,		22076	0.0		0.001	False		,,,				2504	0.0				p.I176F	Melanoma(99;1011 1962 13201 26492)	Atlas-SNP	.											.	UGT1A4	63	.	0			c.A526T						PASS	.	A	,PHE/ILE,,,,,,	269,4137	151.4+/-185.3	8,253,1942	179	173	175		,526,,,,,,	-6.9	0	2	dbSNP_127	175	4,8596	3.7+/-12.6	0,4,4296	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,21,,,,,,	8,257,6238	TT,TA,AA		0.0465,6.1053,2.099	,,,,,,,	,176/535,,,,,,	234627992	273,12733	2203	4300	6503	SO:0001583	missense	54657	exon1			AGGTACATTCCAT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.526A>T	2.37:g.234627992A>T	ENSP00000362508:p.Ile176Phe	Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	411	215	0.523114	NM_007120	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	43	0.019688644688644688	40	0.08130081300813008	3	0.008287292817679558	0	0.0	0	0.0	A	9.158	1.017991	0.19355	0.061053	4.65E-4	ENSG00000244474	ENST00000373409	T	0.60299	0.2	4.49	-6.89	0.01660	.	.	.	.	.	T	0.02119	0.0066	N	0.05124	-0.11	0.09310	N	1	B;P	0.49447	0.327;0.924	B;P	0.52823	0.187;0.71	T	0.04165	-1.0972	9	0.09590	T	0.72	.	7.3186	0.26515	0.2629:0.5035:0.2335:0.0	rs45540231	176;176	B8K288;P22310	.;UD14_HUMAN	F	176	ENSP00000362508:I176F	ENSP00000362508:I176F	I	+	1	0	UGT1A4	234292731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.458000	0.00464	-1.016000	0.03371	-0.619000	0.04042	ATT	A|0.980;T|0.020	0.020	strong		0.453	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		T	234627992	A	T	234627992	3	4	22	1	0	0	0	0	1	0	0	0	16944	217	8	5	528	5	UGT1A4	2	234627992	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	229927	234627992	8571381	1865	6973										
TRPM8	79054	hgsc.bcm.edu	37	chr2	234863788	234863788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcacagccttcagcaccaGtgagcaagacaaggataact	8	12	2	2	rs7593557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234863788G>A	ENST00000324695.4	+	11	1296	c.1256G>A	c.(1255-1257)aGt>aAt	p.S419N	TRPM8_ENST00000433712.2_Missense_Mutation_p.S107N|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	419			S -> N (in dbSNP:rs7593557).		calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S419N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTCAGCACCAGTGAGCAAGAC	0.488													A|||	1725	0.344449	0.6362	0.1571	5008	,	,		21237	0.4444		0.0527	False		,,,				2504	0.2802				p.S419N		Atlas-SNP	.											TRPM8,NS,carcinoma,0,1	TRPM8	146	1	1	Substitution - Missense(1)	stomach(1)	c.G1256A						PASS	.	A	ASN/SER	2336,2070	569.8+/-382.7	617,1102,484	89	86	87		1256	6	0.9	2	dbSNP_116	87	499,8101	797.0+/-407.5	14,471,3815	yes	missense	TRPM8	NM_024080.4	46	631,1573,4299	AA,AG,GG		5.8023,46.9814,21.7976	benign	419/1105	234863788	2835,10171	2203	4300	6503	SO:0001583	missense	79054	exon11			GCACCAGTGAGCA	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1256G>A	2.37:g.234863788G>A	ENSP00000323926:p.Ser419Asn	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	145	83	0.572414	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	658	0.30128205128205127	298	0.6056910569105691	71	0.19613259668508287	247	0.4318181818181818	42	0.055408970976253295	A	13.05	2.121907	0.37436	0.530186	0.058023	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.35789	1.29;1.29	5.99	5.99	0.97316	.	0.207539	0.42682	N	0.000679	T	0.00012	0.0000	N	0.15975	0.35	0.58432	P	5.999999999950489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37934	-0.9684	9	0.08599	T	0.76	-25.8811	11.2408	0.48968	0.9284:0.0:0.0716:0.0	rs7593557;rs52800345;rs59539312;rs7593557	107;419	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	N	419;107	ENSP00000323926:S419N;ENSP00000404423:S107N	ENSP00000323926:S419N	S	+	2	0	TRPM8	234528527	0.999000	0.42202	0.908000	0.35775	0.586000	0.36452	3.631000	0.54280	1.092000	0.41356	-0.254000	0.11334	AGT	G|0.732;A|0.268	0.268	strong		0.488	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		A	234863788	G	A	234863788	3	1	22	1	0	0	0	0	1	0	0	0	16589	1029	36	2	1294	2	TRPM8	2	234863788	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	235796	234863788	8335585	1866	6974										
TRPM8	79054	hgsc.bcm.edu	37	chr2	234915540	234915540	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctggcatgggagggtgtCatgaaggaaaactaccttgt	13	7	2	1	rs11563071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:234915540C>G	ENST00000324695.4	+	23	3214	c.3174C>G	c.(3172-3174)gtC>gtG	p.V1058V	TRPM8_ENST00000433712.2_Silent_p.V636V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1058					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGGAGGGTGTCATGAAGGAAA	0.418													C|||	632	0.126198	0.1989	0.1484	5008	,	,		21661	0.1081		0.0815	False		,,,				2504	0.0767				p.V1058V		Atlas-SNP	.											.	TRPM8	146	.	0			c.C3174G						PASS	.	C		782,3624	314.7+/-293.7	73,636,1494	132	109	117		3174	2.9	1	2	dbSNP_120	117	831,7769	191.7+/-237.8	34,763,3503	no	coding-synonymous	TRPM8	NM_024080.4		107,1399,4997	GG,GC,CC		9.6628,17.7485,12.402		1058/1105	234915540	1613,11393	2203	4300	6503	SO:0001819	synonymous_variant	79054	exon23			GGGTGTCATGAAG	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3174C>G	2.37:g.234915540C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	89	58	0.651685	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																			C|0.880;G|0.120	0.120	strong		0.418	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		G	234915540	C	G	234915540	2	3	22	1	0	0	0	0	0	0	0	1	16589	813	29	4		4	TRPM8	2	234915540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51752	234915540	8283833	1867	6975										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235949877	235949877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaaaagtaccaggcagaaTgtacagtaataaccctttct	6	9	1	1	rs3731644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:235949877T>C	ENST00000409212.1	+	4	971	c.464T>C	c.(463-465)aTg>aCg	p.M155T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.M155T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M155T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	155			M -> T (in dbSNP:rs3731644). {ECO:0000269|PubMed:16325581}.		cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.M155T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCAGGCAGAATGTACAGTAAT	0.507													C|||	1711	0.341653	0.4002	0.4092	5008	,	,		20531	0.4117		0.0964	False		,,,				2504	0.3947				p.M155T		Atlas-SNP	.											SH3BP4,NS,carcinoma,0,1	SH3BP4	109	1	1	Substitution - Missense(1)	stomach(1)	c.T464C						PASS	.	C	THR/MET	1622,2784	661.5+/-400.9	314,994,895	100	103	102		464	2.5	0	2	dbSNP_107	102	950,7650	775.6+/-407.7	49,852,3399	yes	missense	SH3BP4	NM_014521.2	81	363,1846,4294	CC,CT,TT		11.0465,36.8134,19.7755	benign	155/964	235949877	2572,10434	2203	4300	6503	SO:0001583	missense	23677	exon4			GCAGAATGTACAG	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.464T>C	2.37:g.235949877T>C	ENSP00000386862:p.Met155Thr	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	71	40	0.56338	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	660	0.3021978021978022	200	0.4065040650406504	130	0.35911602209944754	253	0.4423076923076923	77	0.10158311345646438	C	3.825	-0.036980	0.07497	0.368134	0.110465	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.24350	3.06;3.06;3.06;1.86	5.35	2.53	0.30540	.	1.323390	0.04695	N	0.414885	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46317	-0.9200	9	0.12103	T	0.63	-17.0704	3.1836	0.06593	0.1268:0.4588:0.2683:0.1461	rs3731644;rs52831227;rs61554763;rs3731644	155;155	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	155	ENSP00000375867:M155T;ENSP00000386862:M155T;ENSP00000340237:M155T;ENSP00000415391:M155T	ENSP00000340237:M155T	M	+	2	0	SH3BP4	235614616	0.004000	0.15560	0.000000	0.03702	0.198000	0.23893	1.295000	0.33377	-0.001000	0.14495	-0.761000	0.03458	ATG	T|0.747;C|0.253	0.253	strong		0.507	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			C	235949877	T	C	235949877	3	2	22	1	0	0	0	0	1	0	0	0	14246	1464	51	2	470	2	SH3BP4	2	235949877	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1034337	235949877	7249496	1868	6976										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235949920	235949920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggggtccagaccaatccAtttctgaatgggaacgtgcc	11	10	1	2	rs3731645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:235949920A>G	ENST00000409212.1	+	4	1014	c.507A>G	c.(505-507)ccA>ccG	p.P169P	SH3BP4_ENST00000344528.4_Silent_p.P169P|SH3BP4_ENST00000392011.2_Silent_p.P169P			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	169					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.P169P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGACCAATCCATTTCTGAATG	0.502													G|||	1657	0.330871	0.4002	0.3372	5008	,	,		21045	0.4127		0.0915	False		,,,				2504	0.3947				p.P169P		Atlas-SNP	.											SH3BP4,NS,carcinoma,0,1	SH3BP4	109	1	1	Substitution - coding silent(1)	stomach(1)	c.A507G						PASS	.	G		1615,2791	662.3+/-401.0	311,993,899	114	115	115		507	-11.2	0	2	dbSNP_107	115	895,7705	778.2+/-407.7	44,807,3449	no	coding-synonymous	SH3BP4	NM_014521.2		355,1800,4348	GG,GA,AA		10.407,36.6546,19.2988		169/964	235949920	2510,10496	2203	4300	6503	SO:0001819	synonymous_variant	23677	exon4			CAATCCATTTCTG	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.507A>G	2.37:g.235949920A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																			A|0.760;G|0.240	0.240	strong		0.502	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			G	235949920	A	G	235949920	2	3	22	1	0	0	0	0	0	0	0	1	14246	204	8	2		2	SH3BP4	2	235949920	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43	235949920	7249453	1869	6977										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235950002	235950002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatttgctcctttttgacGcaggtacatcctccttcacc	7	13	1	1	rs3731646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:235950002G>A	ENST00000409212.1	+	4	1096	c.589G>A	c.(589-591)Gca>Aca	p.A197T	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A197T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A197T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	197			A -> T (in dbSNP:rs3731646). {ECO:0000269|PubMed:16325581}.		cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTGACGCAGGTACATC	0.532													A|||	1495	0.298522	0.2859	0.3256	5008	,	,		19630	0.4097		0.0915	False		,,,				2504	0.3947				p.A197T		Atlas-SNP	.											.	SH3BP4	109	.	0			c.G589A						PASS	.	A	THR/ALA	1146,3260	714.8+/-408.4	149,848,1206	108	105	106		589	0	0	2	dbSNP_107	106	891,7709	778.4+/-407.7	43,805,3452	yes	missense	SH3BP4	NM_014521.2	58	192,1653,4658	AA,AG,GG		10.3605,26.01,15.662	benign	197/964	235950002	2037,10969	2203	4300	6503	SO:0001583	missense	23677	exon4			TTTGACGCAGGTA	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.589G>A	2.37:g.235950002G>A	ENSP00000386862:p.Ala197Thr	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	132	60	0.454545	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	559	0.25595238095238093	142	0.2886178861788618	90	0.24861878453038674	253	0.4423076923076923	74	0.09762532981530343	A	0.006	-2.051408	0.00394	0.2601	0.103605	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.08984	3.03;3.03;3.03	5.58	-0.0177	0.13967	.	0.553031	0.20798	N	0.085494	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40308	-0.9570	9	0.12430	T	0.62	-1.2388	5.7498	0.18140	0.3802:0.3992:0.2206:0.0	rs3731646;rs60274850;rs3731646	197;197	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	197	ENSP00000375867:A197T;ENSP00000386862:A197T;ENSP00000340237:A197T	ENSP00000340237:A197T	A	+	1	0	SH3BP4	235614741	0.001000	0.12720	0.000000	0.03702	0.052000	0.14988	0.383000	0.20651	-0.176000	0.10707	-0.269000	0.10298	GCA	G|0.786;A|0.214	0.214	strong		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235950002	G	A	235950002	3	1	22	1	0	0	0	0	1	0	0	0	14246	1087	38	1	595	1	SH3BP4	2	235950002	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82	235950002	7249371	1870	6978										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235950284	235950284	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaactgcctggctaaaccacAggaagctggcccggtcttgc	12	13	1	0	rs3731648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:235950284A>C	ENST00000409212.1	+	4	1378	c.871A>C	c.(871-873)Agg>Cgg	p.R291R	SH3BP4_ENST00000392011.2_Silent_p.R291R|SH3BP4_ENST00000344528.4_Silent_p.R291R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	291					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.R291R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTAAACCACAGGAAGCTGGC	0.582													C|||	1494	0.298323	0.2867	0.3256	5008	,	,		17048	0.4077		0.0915	False		,,,				2504	0.3947				p.R291R		Atlas-SNP	.											SH3BP4,NS,carcinoma,0,1	SH3BP4	109	1	1	Substitution - coding silent(1)	stomach(1)	c.A871C						PASS	.	C		1115,3287		134,847,1220	40	50	46		871	4.6	1	2	dbSNP_107	46	888,7712		47,794,3459	no	coding-synonymous	SH3BP4	NM_014521.2		181,1641,4679	CC,CA,AA		10.3256,25.3294,15.4053		291/964	235950284	2003,10999	2201	4300	6501	SO:0001819	synonymous_variant	23677	exon4			AACCACAGGAAGC	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.871A>C	2.37:g.235950284A>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																			A|0.797;C|0.203	0.203	strong		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			C	235950284	A	C	235950284	2	2	22	1	0	0	0	0	0	0	0	1	14246	179	7	5		5	SH3BP4	2	235950284	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	282	235950284	7249089	1871	6979										
ASB18	401036	hgsc.bcm.edu	37	chr2	237103548	237103548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgtggctccaaaagtagGtaattctgcaggggctttgg	13	9	1	0	rs10177825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:237103548G>A	ENST00000409749.3	-	6	1367	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	ASB18_ENST00000330842.6_Silent_p.Y427Y|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	456	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAAAAGTAGGTAATTCTGCA	0.532													A|||	929	0.185503	0.4418	0.0951	5008	,	,		22038	0.002		0.1481	False		,,,				2504	0.1309				p.Y456Y		Atlas-SNP	.											.	ASB18	34	.	0			c.C1368T						PASS	.	A		1570,2464		306,958,753	54	64	60		1368	-0.9	0.1	2	dbSNP_119	60	1057,7313		69,919,3197	no	coding-synonymous	ASB18	NM_212556.2		375,1877,3950	AA,AG,GG		12.6284,38.9192,21.1787		456/467	237103548	2627,9777	2017	4185	6202	SO:0001819	synonymous_variant	401036	exon6			AAGTAGGTAATTC	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1368C>T	2.37:g.237103548G>A		Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	136	136	1	NM_212556	B6ZDL7	Silent	SNP	ENST00000409749.3	37	CCDS46548.1																																																																																			G|0.807;A|0.193	0.193	strong		0.532	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		A	237103548	G	A	237103548	2	1	22	1	0	0	0	0	0	0	0	1	1022	1256	44	2		2	ASB18	2	237103548	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1153264	237103548	6095825	1872	6980										
ASB18	401036	hgsc.bcm.edu	37	chr2	237103623	237103623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccaaacagtctgcgaagAgcacagcggcaaagatgctg	12	10	1	2	rs10166966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:237103623A>G	ENST00000409749.3	-	6	1292	c.1293T>C	c.(1291-1293)gcT>gcC	p.A431A	ASB18_ENST00000330842.6_Silent_p.A402A|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	431	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GTCTGCGAAGAGCACAGCGGC	0.552													G|||	564	0.11262	0.1891	0.0735	5008	,	,		21199	0.002		0.1352	False		,,,				2504	0.1278				p.A431A		Atlas-SNP	.											.	ASB18	34	.	0			c.T1293C						PASS	.	G		757,3513		66,625,1444	69	83	78		1293	3.8	0.4	2	dbSNP_119	78	965,7525		60,845,3340	no	coding-synonymous	ASB18	NM_212556.2		126,1470,4784	GG,GA,AA		11.3663,17.7283,13.4953		431/467	237103623	1722,11038	2135	4245	6380	SO:0001819	synonymous_variant	401036	exon6			GCGAAGAGCACAG	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1293T>C	2.37:g.237103623A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_212556	B6ZDL7	Silent	SNP	ENST00000409749.3	37	CCDS46548.1																																																																																			A|0.899;G|0.101	0.101	strong		0.552	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		G	237103623	A	G	237103623	2	3	22	1	0	0	0	0	0	0	0	1	1022	291	11	3		3	ASB18	2	237103623	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75	237103623	6095750	1873	6981										
ASB18	401036	hgsc.bcm.edu	37	chr2	237103697	237103697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactggtagaacggcttgtGcatctggaagggaaggcagg	18	6	1	1	rs10177957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:237103697G>T	ENST00000409749.3	-	6	1218	c.1219C>A	c.(1219-1221)Cac>Aac	p.H407N	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.H378N|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	407	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.		H -> N (in dbSNP:rs10177957).		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AACGGCTTGTGCATCTGGAAG	0.537													G|||	543	0.108427	0.1732	0.0735	5008	,	,		17656	0.002		0.1352	False		,,,				2504	0.1278				p.H407N		Atlas-SNP	.											.	ASB18	34	.	0			c.C1219A						PASS	.	G	ASN/HIS	660,3554		49,562,1496	54	66	62		1219	3.7	1	2	dbSNP_119	62	970,7516		61,848,3334	yes	missense	ASB18	NM_212556.2	68	110,1410,4830	TT,TG,GG		11.4306,15.6621,12.8346	possibly-damaging	407/467	237103697	1630,11070	2107	4243	6350	SO:0001583	missense	401036	exon6			GCTTGTGCATCTG	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1219C>A	2.37:g.237103697G>T	ENSP00000386532:p.His407Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_212556	B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	CCDS46548.1	206	0.09432234432234432	65	0.13211382113821138	33	0.09116022099447514	0	0.0	108	0.1424802110817942	G	18.15	3.561021	0.65538	0.156621	0.114306	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.39056	1.1;1.15	4.64	3.73	0.42828	SOCS protein, C-terminal (1);	.	.	.	.	T	0.00328	0.0010	M	0.83223	2.63	0.20638	P	0.999874701	D	0.54047	0.964	P	0.52823	0.71	T	0.20174	-1.0283	8	0.62326	D	0.03	.	11.276	0.49168	0.088:0.0:0.912:0.0	rs10177957;rs58809580;rs10177957	407	Q6ZVZ8	ASB18_HUMAN	N	378;407	ENSP00000329970:H378N;ENSP00000386532:H407N	ENSP00000329970:H378N	H	-	1	0	ASB18	236768436	1.000000	0.71417	0.975000	0.42487	0.858000	0.48976	3.588000	0.53964	2.411000	0.81874	0.561000	0.74099	CAC	G|0.894;T|0.106	0.106	strong		0.537	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		T	237103697	G	T	237103697	3	4	22	1	0	0	0	0	1	0	0	0	1022	1319	46	4	184	4	ASB18	2	237103697	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74	237103697	6095676	1874	6982										
CXCR7	57007	hgsc.bcm.edu	37	chr2	237489796	237489796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccttctccattatcgctGtcttctacttcctgctggcc	5	16	3	0	rs35095494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:237489796G>A	ENST00000272928.3	+	2	998	c.688G>A	c.(688-690)Gtc>Atc	p.V230I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	230					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CATTATCGCTGTCTTCTACTT	0.572													G|||	59	0.0117812	0.0431	0.0029	5008	,	,		21400	0.0		0.0	False		,,,				2504	0.0				p.V230I		Atlas-SNP	.											.	CXCR7	72	.	0			c.G688A						PASS	.	G	ILE/VAL	212,4194	128.6+/-165.4	5,202,1996	103	88	93		688	0.6	0.3	2	dbSNP_126	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CXCR7	NM_020311.2	29	5,204,6294	AA,AG,GG		0.0233,4.8116,1.6454	benign	230/363	237489796	214,12792	2203	4300	6503	SO:0001583	missense	57007	exon2			ATCGCTGTCTTCT	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.688G>A	2.37:g.237489796G>A	ENSP00000272928:p.Val230Ile	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	172	90	0.523256	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	G	6.438	0.448991	0.12223	0.048116	2.33E-4	ENSG00000144476	ENST00000272928	T	0.37235	1.21	5.7	0.629	0.17687	GPCR, rhodopsin-like superfamily (1);	0.285365	0.33346	N	0.005017	T	0.02807	0.0084	N	0.25245	0.725	0.26027	N	0.981791	B	0.09022	0.002	B	0.14023	0.01	T	0.12142	-1.0559	9	.	.	.	.	5.5847	0.17267	0.3325:0.2292:0.4382:0.0	rs35095494	230	P25106	CXCR7_HUMAN	I	230	ENSP00000272928:V230I	.	V	+	1	0	CXCR7	237154535	0.001000	0.12720	0.276000	0.24689	0.421000	0.31385	-0.112000	0.10791	0.052000	0.16007	-0.140000	0.14226	GTC	G|0.984;A|0.016	0.016	strong		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		A	237489796	G	A	237489796	3	1	22	1	0	0	0	0	1	0	0	0	4096	1377	48	2	690	2	CXCR7	2	237489796	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	386099	237489796	5709577	1875	6983										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238253332	238253332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtgaccacagccacccgGgccccccgtgggcagttgct	13	16	0	1	rs10084221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238253332G>A	ENST00000295550.4	-	36	7781	c.7329C>T	c.(7327-7329)gcC>gcT	p.A2443A	COL6A3_ENST00000472056.1_Silent_p.A1836A|COL6A3_ENST00000409809.1_Silent_p.A2237A|COL6A3_ENST00000346358.4_Silent_p.A2243A|COL6A3_ENST00000347401.3_Silent_p.A2242A|COL6A3_ENST00000353578.4_Silent_p.A2237A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2443	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGCCACCCGGGCCCCCCGTG	0.557													G|||	355	0.0708866	0.2171	0.0375	5008	,	,		19167	0.005		0.0189	False		,,,				2504	0.0184				p.A2443A		Atlas-SNP	.											.	COL6A3	608	.	0			c.C7329T						PASS	.	G	,,	801,3605	296.7+/-284.4	54,693,1456	55	61	59		7329,5508,6711	3.4	1	2	dbSNP_119	59	177,8423	78.6+/-141.3	1,175,4124	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	55,868,5580	AA,AG,GG		2.0581,18.1798,7.5196	,,	2443/3178,1836/2571,2237/2972	238253332	978,12028	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon36			CACCCGGGCCCCC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7329C>T	2.37:g.238253332G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|0.935;A|0.065	0.065	strong		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238253332	G	A	238253332	2	1	22	1	0	0	0	0	0	0	0	1	3701	1219	43	2		2	COL6A3	2	238253332	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	763536	238253332	4946041	1876	6984										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238267717	238267717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctccagaagaaccaggCaatcctttgtctccctgcca	6	15	2	2	rs2646254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238267717C>T	ENST00000295550.4	-	20	6821	c.6369G>A	c.(6367-6369)ttG>ttA	p.L2123L	COL6A3_ENST00000472056.1_Silent_p.L1516L|COL6A3_ENST00000409809.1_Silent_p.L1917L|COL6A3_ENST00000346358.4_Silent_p.L1923L|COL6A3_ENST00000347401.3_Silent_p.L1922L|COL6A3_ENST00000353578.4_Silent_p.L1917L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2123	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGAACCAGGCAATCCTTTGT	0.418													C|||	1657	0.330871	0.5416	0.2507	5008	,	,		19812	0.3522		0.1511	False		,,,				2504	0.2658				p.L2123L		Atlas-SNP	.											.	COL6A3	608	.	0			c.G6369A						PASS	.	C	,,	2073,2333	570.8+/-382.9	485,1103,615	208	226	220		6369,4548,5751	4.3	0.2	2	dbSNP_100	220	1168,7432	239.0+/-270.3	77,1014,3209	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	562,2117,3824	TT,TC,CC		13.5814,47.0495,24.9193	,,	2123/3178,1516/2571,1917/2972	238267717	3241,9765	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon20			ACCAGGCAATCCT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6369G>A	2.37:g.238267717C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	222	98	0.441441	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			C|0.720;T|0.280	0.280	strong		0.418	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238267717	C	T	238267717	2	4	22	1	0	0	0	0	0	0	0	1	3701	709	25	2		2	COL6A3	2	238267717	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14385	238267717	4931656	1877	6985										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238277573	238277573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccagtgttcagtggggaCccccctctgagcctcaggcg	13	14	3	1	rs2645774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238277573C>A	ENST00000295550.4	-	10	4985	c.4533G>T	c.(4531-4533)ggG>ggT	p.G1511G	COL6A3_ENST00000472056.1_Silent_p.G904G|COL6A3_ENST00000409809.1_Silent_p.G1305G|COL6A3_ENST00000346358.4_Silent_p.G1311G|COL6A3_ENST00000347401.3_Silent_p.G1310G|COL6A3_ENST00000353578.4_Silent_p.G1305G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1511	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAGTGGGGACCCCCCTCTGA	0.562													C|||	1330	0.265575	0.295	0.3084	5008	,	,		18618	0.256		0.2177	False		,,,				2504	0.2546				p.G1511G		Atlas-SNP	.											.	COL6A3	608	.	0			c.G4533T						PASS	.	C	,,	1224,3182	421.5+/-339.4	163,898,1142	47	48	48		4533,2712,3915	-5.6	0	2	dbSNP_100	48	1824,6776	321.3+/-315.0	208,1408,2684	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	371,2306,3826	AA,AC,CC		21.2093,27.7803,23.4353	,,	1511/3178,904/2571,1305/2972	238277573	3048,9958	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon10			TGGGGACCCCCCT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4533G>T	2.37:g.238277573C>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	104	45	0.432692	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			C|0.757;A|0.243	0.243	strong		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238277573	C	A	238277573	2	1	22	1	0	0	0	0	0	0	0	1	3701	494	18	4		4	COL6A3	2	238277573	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9856	238277573	4921800	1878	6986										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238283605	238283605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactctttcaacagagggaaGccgctcctgacgccctcaga	9	14	3	3	rs12622093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238283605G>A	ENST00000295550.4	-	8	3581	c.3129C>T	c.(3127-3129)ggC>ggT	p.G1043G	COL6A3_ENST00000472056.1_Silent_p.G436G|COL6A3_ENST00000409809.1_Silent_p.G837G|COL6A3_ENST00000346358.4_Silent_p.G843G|COL6A3_ENST00000392003.2_Silent_p.G636G|COL6A3_ENST00000347401.3_Silent_p.G842G|COL6A3_ENST00000353578.4_Silent_p.G837G|COL6A3_ENST00000392004.3_Silent_p.G837G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1043	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGAGGGAAGCCGCTCCTGA	0.587													G|||	1081	0.215855	0.1082	0.2536	5008	,	,		19171	0.2698		0.2465	False		,,,				2504	0.2474				p.G1043G		Atlas-SNP	.											COL6A3_ENST00000392004,NS,carcinoma,0,2	COL6A3	608	2	0			c.C3129T						PASS	.	G	,,,,	568,3838	248.7+/-256.4	42,484,1677	46	49	48		3129,1908,2511,1308,2511	1.2	0.9	2	dbSNP_120	48	2008,6592	348.4+/-327.0	244,1520,2536	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	286,2004,4213	AA,AG,GG		23.3488,12.8915,19.8062	,,,,	1043/3178,636/1037,837/1238,436/2571,837/2972	238283605	2576,10430	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon8			AGGGAAGCCGCTC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3129C>T	2.37:g.238283605G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|0.795;A|0.205	0.205	strong		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238283605	G	A	238283605	2	1	22	1	0	0	0	0	0	0	0	1	3701	958	34	2		2	COL6A3	2	238283605	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6032	238283605	4915768	1879	6987										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238289842	238289842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggtagccggctgaactcGtgaataggttgttacgaaca	12	10	0	2	rs34741387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238289842G>A	ENST00000295550.4	-	5	2065	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	COL6A3_ENST00000472056.1_Missense_Mutation_p.T131M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T332M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T538M|COL6A3_ENST00000392003.2_Missense_Mutation_p.T131M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T337M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T332M|COL6A3_ENST00000392004.3_Missense_Mutation_p.T332M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	538	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.		T -> M (in dbSNP:rs34741387).		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T538K(1)|p.T332K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCTGAACTCGTGAATAGGTT	0.552													G|||	44	0.00878594	0.031	0.0043	5008	,	,		18735	0.0		0.0	False		,,,				2504	0.0				p.T538M		Atlas-SNP	.											.	COL6A3	608	.	2	Substitution - Missense(2)	lung(2)	c.C1613T						PASS	.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	115,4291	85.3+/-124.0	1,113,2089	69	80	76		1613,392,995,392,995	3.6	0.5	2	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	81,81,81,81,81	1,114,6388	AA,AG,GG		0.0116,2.6101,0.8919	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	538/3178,131/1037,332/1238,131/2571,332/2972	238289842	116,12890	2203	4300	6503	SO:0001583	missense	1293	exon5			GAACTCGTGAATA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1613C>T	2.37:g.238289842G>A	ENSP00000295550:p.Thr538Met	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	58	33	0.568965	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	11.65	1.702027	0.30232	0.026101	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.6	3.62	0.41486	von Willebrand factor, type A (3);	0.360229	0.23277	N	0.049959	T	0.80964	0.4725	M	0.87547	2.89	0.24906	N	0.992072	D;D;D;D;D;D	0.89917	0.999;1.0;0.984;0.998;1.0;0.994	D;D;P;D;D;P	0.79784	0.916;0.993;0.87;0.964;0.99;0.88	T	0.77525	-0.2555	10	0.51188	T	0.08	.	12.068	0.53598	0.0695:0.0:0.8014:0.129	rs34741387	538;131;131;332;332;538	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	538;337;332;131;332;538;332;131;538	ENSP00000295550:T538M;ENSP00000315609:T337M;ENSP00000315873:T332M;ENSP00000418285:T131M;ENSP00000386844:T332M;ENSP00000295546:T538M;ENSP00000375861:T332M;ENSP00000375860:T131M;ENSP00000389539:T538M	ENSP00000295550:T538M	T	-	2	0	COL6A3	237954581	0.193000	0.23313	0.484000	0.27391	0.010000	0.07245	0.549000	0.23329	1.366000	0.46076	0.655000	0.94253	ACG	G|0.991;A|0.009	0.009	strong		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238289842	G	A	238289842	3	1	22	1	0	0	0	0	1	0	0	0	3701	1145	40	1	8127	1	COL6A3	2	238289842	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6237	238289842	4909531	1880	6988										
MLPH	79083	hgsc.bcm.edu	37	chr2	238449007	238449007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagggtctaggtgctggagTgcgcacggaggccgatgtag	18	8	2	0	rs3817362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238449007T>C	ENST00000264605.3	+	10	1415	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	MLPH_ENST00000445024.2_Missense_Mutation_p.V374A|MLPH_ENST00000338530.4_Missense_Mutation_p.V346A|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.V231A|MLPH_ENST00000409373.1_Missense_Mutation_p.V306A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	374			V -> A (in dbSNP:rs3817362). {ECO:0000269|PubMed:14702039}.		melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTGCTGGAGTGCGCACGGAG	0.622													T|||	2161	0.43151	0.8071	0.3026	5008	,	,		18892	0.3899		0.1193	False		,,,				2504	0.3793				p.V374A		Atlas-SNP	.											.	MLPH	41	.	0			c.T1121C						PASS	.	T	ALA/VAL,ALA/VAL	3125,1281	690.5+/-405.3	1116,893,194	64	61	62		1037,1121	0.1	0	2	dbSNP_107	62	1187,7413	240.1+/-271.0	73,1041,3186	yes	missense,missense	MLPH	NM_001042467.1,NM_024101.5	64,64	1189,1934,3380	CC,CT,TT		13.8023,29.074,33.1539	benign,benign	346/573,374/601	238449007	4312,8694	2203	4300	6503	SO:0001583	missense	79083	exon10			CTGGAGTGCGCAC	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1121T>C	2.37:g.238449007T>C	ENSP00000264605:p.Val374Ala	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_024101	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	CCDS2518.1	788|788	0.3608058608058608|0.3608058608058608	388|388	0.7886178861788617|0.7886178861788617	96|96	0.26519337016574585|0.26519337016574585	221|221	0.38636363636363635|0.38636363636363635	83|83	0.10949868073878628|0.10949868073878628	T|T	0.772|0.772	-0.765435|-0.765435	0.02996|0.02996	0.70926|0.70926	0.138023|0.138023	ENSG00000115648|ENSG00000115648	ENST00000436965|ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893	.|T;T;T;T;T;T	.|0.25250	.|2.05;2.17;2.05;2.02;1.81;1.93	4.66|4.66	0.0828|0.0828	0.14430|0.14430	.|.	.|6.460240	.|0.01732	.|N	.|0.028890	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B;B;B;B;B	.|0.17465	.|0.001;0.002;0.013;0.013;0.005;0.022;0.007;0.001	.|B;B;B;B;B;B;B;B	.|0.16289	.|0.001;0.001;0.01;0.007;0.002;0.015;0.002;0.001	T|T	0.39563|0.39563	-0.9608|-0.9608	4|9	.|0.08837	.|T	.|0.75	-8.0E-4|-8.0E-4	3.5252|3.5252	0.07757|0.07757	0.3479:0.3383:0.0:0.3138|0.3479:0.3383:0.0:0.3138	rs3817362;rs56654643;rs3817362|rs3817362;rs56654643;rs3817362	.|35;374;230;346;306;346;374;231	.|Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.|.;.;.;.;.;.;MELPH_HUMAN;.	R|A	95|231;374;374;346;306;134	.|ENSP00000386338:V231A;ENSP00000264605:V374A;ENSP00000414849:V374A;ENSP00000341845:V346A;ENSP00000386780:V306A;ENSP00000412438:V134A	.|ENSP00000264605:V374A	C|V	+|+	1|2	0|0	MLPH|MLPH	238113746|238113746	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.086000|-1.086000	0.03386|0.03386	-0.239000|-0.239000	0.09710|0.09710	-1.117000|-1.117000	0.02048|0.02048	TGC|GTG	T|0.643;C|0.357	0.357	strong		0.622	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		C	238449007	T	C	238449007	3	2	22	1	0	0	0	0	1	0	0	0	9633	1696	59	2	1155	2	MLPH	2	238449007	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	159165	238449007	4750366	1881	6989										
RAB17	64284	hgsc.bcm.edu	37	chr2	238483751	238483751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctggccctcctcgtcgcTtctctgcagtagctcttggg	11	15	2	0	rs34311889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238483751T>C	ENST00000264601.3	-	6	1179	c.550A>G	c.(550-552)Agc>Ggc	p.S184G	RAB17_ENST00000538644.1_Missense_Mutation_p.S57G|RAB17_ENST00000409822.1_Missense_Mutation_p.S57G|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	184			S -> G (in dbSNP:rs34311889).		cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TCCTCGTCGCTTCTCTGCAGT	0.662													C|||	625	0.1248	0.4418	0.0389	5008	,	,		17887	0.0		0.004	False		,,,				2504	0.0102				p.S184G	Colon(56;987 1029 6466 13943 27336)	Atlas-SNP	.											.	RAB17	17	.	0			c.A550G						PASS	.	C	GLY/SER	1649,2757	643.8+/-397.9	313,1023,867	35	38	37		550	0	0	2	dbSNP_126	37	25,8575	811.2+/-407.1	0,25,4275	yes	missense	RAB17	NM_022449.3	56	313,1048,5142	CC,CT,TT		0.2907,37.4262,12.871	benign	184/213	238483751	1674,11332	2203	4300	6503	SO:0001583	missense	64284	exon6			CGTCGCTTCTCTG	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.550A>G	2.37:g.238483751T>C	ENSP00000264601:p.Ser184Gly	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	147	75	0.510204	NM_022449	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	CCDS2520.1	225	0.10302197802197802	207	0.42073170731707316	17	0.04696132596685083	0	0.0	1	0.0013192612137203166	C	9.138	1.013111	0.19277	0.374262	0.002907	ENSG00000124839	ENST00000264601;ENST00000538644;ENST00000409822	T;T;T	0.79845	-1.31;-1.31;-1.31	3.05	-0.00717	0.14010	.	1.882310	0.03405	N	0.203850	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	9	0.27082	T	0.32	-11.7524	6.8837	0.24187	0.0:0.352:0.5348:0.1132	rs34311889	184	Q9H0T7	RAB17_HUMAN	G	184;57;57	ENSP00000264601:S184G;ENSP00000443461:S57G;ENSP00000386589:S57G	ENSP00000264601:S184G	S	-	1	0	RAB17	238148490	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.027000	0.12371	-0.272000	0.09259	-1.103000	0.02113	AGC	T|0.884;C|0.116	0.116	strong		0.662	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			C	238483751	T	C	238483751	3	2	22	1	0	0	0	0	1	0	0	0	12902	1609	56	3	92	3	RAB17	2	238483751	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34744	238483751	4715622	1882	6990										
RAB17	64284	hgsc.bcm.edu	37	chr2	238494681	238494681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttgaagtcgttcttcacGtaccgaagagccaagctgga	10	11	3	2	rs34052613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238494681G>A	ENST00000264601.3	-	2	746	c.117C>T	c.(115-117)taC>taT	p.Y39Y	RAB17_ENST00000538644.1_De_novo_Start_InFrame|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	39					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CGTTCTTCACGTACCGAAGAG	0.607													G|||	414	0.0826677	0.1172	0.0677	5008	,	,		18531	0.0159		0.0994	False		,,,				2504	0.0982				p.Y39Y	Colon(56;987 1029 6466 13943 27336)	Atlas-SNP	.											.	RAB17	17	.	0			c.C117T						PASS	.	G		500,3906	231.4+/-245.2	41,418,1744	98	86	90		117	-2.1	0.8	2	dbSNP_126	90	1055,7545	222.6+/-259.6	61,933,3306	no	coding-synonymous	RAB17	NM_022449.3		102,1351,5050	AA,AG,GG		12.2674,11.3482,11.956		39/213	238494681	1555,11451	2203	4300	6503	SO:0001819	synonymous_variant	64284	exon2			CTTCACGTACCGA	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.117C>T	2.37:g.238494681G>A		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	222	122	0.54955	NM_022449	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Silent	SNP	ENST00000264601.3	37	CCDS2520.1																																																																																			G|0.890;A|0.110	0.110	strong		0.607	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			A	238494681	G	A	238494681	2	1	22	1	0	0	0	0	0	0	0	1	12902	1140	40	1		1	RAB17	2	238494681	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10930	238494681	4704692	1883	6991										
RAB17	64284	hgsc.bcm.edu	37	chr2	238494742	238494742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggagaaccagcttgaacAcacggggctggctgggggca	16	11	0	2	rs3751112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238494742A>G	ENST00000264601.3	-	2	685	c.56T>C	c.(55-57)gTg>gCg	p.V19A	RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	19			V -> A (in dbSNP:rs3751112). {ECO:0000269|Ref.3}.		cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CAGCTTGAACACACGGGGCTG	0.597													A|||	1486	0.296725	0.553	0.2075	5008	,	,		18090	0.1667		0.1561	False		,,,				2504	0.2924				p.V19A	Colon(56;987 1029 6466 13943 27336)	Atlas-SNP	.											.	RAB17	17	.	0			c.T56C						PASS	.	A	ALA/VAL	2239,2167	591.2+/-387.5	574,1091,538	54	56	55		56	0.6	0	2	dbSNP_107	55	1451,7149	276.1+/-292.1	126,1199,2975	yes	missense	RAB17	NM_022449.3	64	700,2290,3513	GG,GA,AA		16.8721,49.1829,28.3715	benign	19/213	238494742	3690,9316	2203	4300	6503	SO:0001583	missense	64284	exon2			TTGAACACACGGG	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.56T>C	2.37:g.238494742A>G	ENSP00000264601:p.Val19Ala	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	138	79	0.572464	NM_022449	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	CCDS2520.1	539|539	0.2467948717948718|0.2467948717948718	256|256	0.5203252032520326|0.5203252032520326	76|76	0.20994475138121546|0.20994475138121546	93|93	0.16258741258741258|0.16258741258741258	114|114	0.1503957783641161|0.1503957783641161	A|A	1.105|1.105	-0.660007|-0.660007	0.03454|0.03454	0.508171|0.508171	0.168721|0.168721	ENSG00000124839|ENSG00000124839	ENST00000430445|ENST00000264601;ENST00000411462	.|T;T	.|0.80214	.|-1.35;-1.35	4.69|4.69	0.644|0.644	0.17776|0.17776	.|.	.|0.727711	.|0.11443	.|N	.|0.563575	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.12637|0.12637	0.245|0.245	0.51233|0.51233	P|P	8.20000000000265E-5|8.20000000000265E-5	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.42447|0.42447	-0.9451|-0.9451	4|9	.|0.23891	.|T	.|0.37	-6.0609|-6.0609	5.1932|5.1932	0.15220|0.15220	0.6565:0.0:0.1256:0.2178|0.6565:0.0:0.1256:0.2178	rs3751112;rs52805492;rs58005530;rs3751112|rs3751112;rs52805492;rs58005530;rs3751112	.|19	.|Q9H0T7	.|RAB17_HUMAN	R|A	1|19	.|ENSP00000264601:V19A;ENSP00000400240:V19A	.|ENSP00000264601:V19A	C|V	-|-	1|2	0|0	RAB17|RAB17	238159481|238159481	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.034000|0.034000	0.12701|0.12701	0.886000|0.886000	0.28241|0.28241	-0.081000|-0.081000	0.12662|0.12662	-2.649000|-2.649000	0.00149|0.00149	TGT|GTG	A|0.726;G|0.274	0.274	strong		0.597	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			G	238494742	A	G	238494742	3	3	22	1	0	0	0	0	1	0	0	0	12902	159	6	2	602	2	RAB17	2	238494742	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61	238494742	4704631	1884	6992										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238668802	238668802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggtcctaccaagatgacAaaagaagagttaaatgccct	8	9	0	4	rs3213868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238668802A>G	ENST00000392000.4	+	10	960	c.843A>G	c.(841-843)acA>acG	p.T281T	LRRFIP1_ENST00000289175.6_Silent_p.T225T|LRRFIP1_ENST00000244815.5_Silent_p.T257T|LRRFIP1_ENST00000308482.9_Silent_p.T471T	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	281					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CCAAGATGACAAAAGAAGAGT	0.448													G|||	1813	0.362021	0.3487	0.3012	5008	,	,		20595	0.505		0.2515	False		,,,				2504	0.3896				p.T471T		Atlas-SNP	.											LRRFIP1_ENST00000392000,colon,carcinoma,+1,3	LRRFIP1	171	3	0			c.A1413G						PASS	.	G	,,,,	1561,2845	669.1+/-402.1	299,963,941	105	100	102		1413,675,843,675,771	-10.8	0	2	dbSNP_106	102	2000,6600	722.2+/-406.4	218,1564,2518	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,,,	517,2527,3459	GG,GA,AA		23.2558,35.429,27.3797	,,,,	471/641,225/395,281/809,225/753,257/785	238668802	3561,9445	2203	4300	6503	SO:0001819	synonymous_variant	9208	exon19			GATGACAAAAGAA	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.843A>G	2.37:g.238668802A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	104	37	0.355769	NM_001137550	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																			A|0.676;G|0.324	0.324	strong		0.448	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238668802	A	G	238668802	2	3	22	1	0	0	0	0	0	0	0	1	9027	117	5	2		2	LRRFIP1	2	238668802	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	174060	238668802	4530571	1885	6993										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238671536	238671536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgagtcaaatgaggtcAtgggtgcaccagatgacagg	15	6	2	4	rs61744755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238671536A>G	ENST00000392000.4	+	11	1297	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.M370V|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.M338V	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	394					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAATGAGGTCATGGGTGCACC	0.498													A|||	211	0.0421326	0.1543	0.0086	5008	,	,		21148	0.0		0.001	False		,,,				2504	0.0				p.M394V		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.A1180G						PASS	.	A	,,VAL/MET,VAL/MET,VAL/MET	541,3865	245.9+/-254.7	45,451,1707	86	91	89		,,1180,1012,1108	-9.8	0	2	dbSNP_129	89	13,8587	9.8+/-36.6	0,13,4287	yes	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,21,21,21	45,464,5994	GG,GA,AA		0.1512,12.2787,4.2596	,,benign,benign,benign	,,394/809,338/753,370/785	238671536	554,12452	2203	4300	6503	SO:0001583	missense	9208	exon11			GAGGTCATGGGTG	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1180A>G	2.37:g.238671536A>G	ENSP00000375857:p.Met394Val	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	258	134	0.51938	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	108	0.04945054945054945	103	0.20934959349593496	5	0.013812154696132596	0	0.0	0	0.0	A	0.004	-2.380306	0.00205	0.122787	0.001512	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.09163	3.01;3.01;3.01	4.89	-9.78	0.00496	.	3.686850	0.00754	N	0.001093	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29274	-1.0017	9	0.13853	T	0.58	7.2432	3.7885	0.08710	0.1625:0.3152:0.3632:0.1592	rs61744755	338;394;370	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	V	338;370;394	ENSP00000289175:M338V;ENSP00000244815:M370V;ENSP00000375857:M394V	ENSP00000244815:M370V	M	+	1	0	LRRFIP1	238336275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.652000	0.01988	-3.689000	0.00120	-2.196000	0.00310	ATG	A|0.948;G|0.052	0.052	strong		0.498	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238671536	A	G	238671536	3	3	22	1	0	0	0	0	1	0	0	0	9027	217	8	2	1898	2	LRRFIP1	2	238671536	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2734	238671536	4527837	1886	6994										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238671609	238671609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtgacttagatggtgggaAccacacagagaatgtgggag	16	5	0	3	rs2001301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238671609A>G	ENST00000392000.4	+	11	1370	c.1253A>G	c.(1252-1254)aAc>aGc	p.N418S	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.N394S|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.N362S	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	418			N -> S (in dbSNP:rs2001301).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GATGGTGGGAACCACACAGAG	0.517													G|||	741	0.147963	0.3238	0.0893	5008	,	,		21343	0.1369		0.0348	False		,,,				2504	0.0798				p.N418S		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.A1253G						PASS	.	G	,,SER/ASN,SER/ASN,SER/ASN	1329,3077	690.4+/-405.3	222,885,1096	87	94	91		,,1253,1085,1181	-4.1	0	2	dbSNP_92	91	248,8352	807.3+/-407.2	4,240,4056	no	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,46,46,46	226,1125,5152	GG,GA,AA		2.8837,30.1634,12.1252	,,benign,benign,benign	,,418/809,362/753,394/785	238671609	1577,11429	2203	4300	6503	SO:0001583	missense	9208	exon11			GTGGGAACCACAC	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1253A>G	2.37:g.238671609A>G	ENSP00000375857:p.Asn418Ser	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	273	144	0.527473	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	322	0.14743589743589744	179	0.3638211382113821	31	0.0856353591160221	92	0.16083916083916083	20	0.026385224274406333	G	0.920	-0.716117	0.03206	0.301634	0.028837	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10099	2.91;2.91;2.91	3.77	-4.12	0.03916	.	3.320190	0.00357	N	0.000035	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.46303	-0.9201	9	0.17832	T	0.49	-2.541	7.8022	0.29180	0.4565:0.2013:0.3422:0.0	rs2001301;rs11546349	362;418;394	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	S	362;394;418	ENSP00000289175:N362S;ENSP00000244815:N394S;ENSP00000375857:N418S	ENSP00000244815:N394S	N	+	2	0	LRRFIP1	238336348	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.951000	0.03885	-1.756000	0.01318	-4.001000	0.00013	AAC	A|0.873;G|0.127	0.127	strong		0.517	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238671609	A	G	238671609	3	3	22	1	0	0	0	0	1	0	0	0	9027	43	2	2	1971	2	LRRFIP1	2	238671609	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	73	238671609	4527764	1887	6995										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238671940	238671940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaggaactgagggcaaCtgtcaggaagcgacaggtcc	14	11	1	1	rs15232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238671940C>T	ENST00000392000.4	+	11	1701	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Silent_p.N472N|LRRFIP1_ENST00000244815.5_Silent_p.N504N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	528	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGAGGGCAACTGTCAGGAAG	0.473													T|||	741	0.147963	0.3238	0.0893	5008	,	,		19463	0.1369		0.0348	False		,,,				2504	0.0798				p.N528N		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.C1584T						PASS	.	T	,,,,	1336,3070	694.0+/-405.8	222,892,1089	81	86	84		,,1584,1416,1512	-2.2	0	2	dbSNP_52	84	249,8351	808.3+/-407.2	4,241,4055	no	intron,intron,coding-synonymous,coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,,,	226,1133,5144	TT,TC,CC		2.8953,30.3223,12.1867	,,,,	,,528/809,472/753,504/785	238671940	1585,11421	2203	4300	6503	SO:0001819	synonymous_variant	9208	exon11			GGGCAACTGTCAG	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1584C>T	2.37:g.238671940C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	114	64	0.561404	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																			C|0.855;T|0.145	0.145	strong		0.473	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		T	238671940	C	T	238671940	2	4	22	1	0	0	0	0	0	0	0	1	9027	564	20	2		2	LRRFIP1	2	238671940	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	331	238671940	4527433	1888	6996										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238672253	238672253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgactgaaaatccaaaacagAaaattgcagcagaaagcagt	8	7	0	4	rs3739041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238672253A>G	ENST00000392000.4	+	11	2014	c.1897A>G	c.(1897-1899)Aaa>Gaa	p.K633E	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.K609E|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K577E	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	633			K -> E (in dbSNP:rs3739041).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCCAAAACAGAAAATTGCAGC	0.393													A|||	536	0.107029	0.3192	0.0231	5008	,	,		20700	0.0794		0.005	False		,,,				2504	0.0133				p.K633E		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.A1897G						PASS	.	A	,,GLU/LYS,GLU/LYS,GLU/LYS	1285,3121	420.8+/-339.2	210,865,1128	65	67	67		,,1897,1729,1825	-8.1	0	2	dbSNP_107	67	34,8566	21.6+/-65.8	0,34,4266	no	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,56,56,56	210,899,5394	GG,GA,AA		0.3953,29.1648,10.1415	,,benign,benign,benign	,,633/809,577/753,609/785	238672253	1319,11687	2203	4300	6503	SO:0001583	missense	9208	exon11			AAACAGAAAATTG	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1897A>G	2.37:g.238672253A>G	ENSP00000375857:p.Lys633Glu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	246	0.11263736263736264	176	0.35772357723577236	15	0.04143646408839779	53	0.09265734265734266	2	0.002638522427440633	A	6.998	0.554341	0.13374	0.291648	0.003953	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10005	2.93;2.92;2.94	5.71	-8.08	0.01094	.	2.288530	0.02094	N	0.053352	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.005	T	0.33979	-0.9847	9	0.15499	T	0.54	1.0E-4	16.0385	0.80648	0.2426:0.0979:0.6595:0.0	rs3739041	577;633;609	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	E	577;609;633	ENSP00000289175:K577E;ENSP00000244815:K609E;ENSP00000375857:K633E	ENSP00000244815:K609E	K	+	1	0	LRRFIP1	238336992	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.699000	0.01906	-1.586000	0.01632	0.533000	0.62120	AAA	.	.	weak		0.393	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238672253	A	G	238672253	3	3	22	1	0	0	0	0	1	0	0	0	9027	247	9	2	2615	2	LRRFIP1	2	238672253	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	313	238672253	4527120	1889	6997										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238672290	238672290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgaaaatgttgattgtcCggagaatcctaaaattaagt	9	5	0	3	rs3739040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238672290C>T	ENST00000392000.4	+	11	2051	c.1934C>T	c.(1933-1935)cCg>cTg	p.P645L	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.P589L|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.P621L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	645			P -> L (in dbSNP:rs3739040).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GTTGATTGTCCGGAGAATCCT	0.413													C|||	536	0.107029	0.3192	0.0231	5008	,	,		20476	0.0794		0.005	False		,,,				2504	0.0133				p.P645L		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.C1934T						PASS	.	C	,,LEU/PRO,LEU/PRO,LEU/PRO	1295,3111	436.1+/-344.5	211,873,1119	66	67	66		,,1934,1766,1862	3.5	0.3	2	dbSNP_107	66	35,8565	23.4+/-69.3	0,35,4265	yes	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,98,98,98	211,908,5384	TT,TC,CC		0.407,29.3917,10.226	,,benign,benign,benign	,,645/809,589/753,621/785	238672290	1330,11676	2203	4300	6503	SO:0001583	missense	9208	exon11			ATTGTCCGGAGAA	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1934C>T	2.37:g.238672290C>T	ENSP00000375857:p.Pro645Leu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	158	76	0.481013	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	246	0.11263736263736264	176	0.35772357723577236	15	0.04143646408839779	53	0.09265734265734266	2	0.002638522427440633	C	10.28	1.307765	0.23821	0.293917	0.00407	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10668	2.85;2.86;2.86	5.27	3.47	0.39725	.	1.421980	0.04652	N	0.407349	T	0.00012	0.0000	L	0.33485	1.01	0.80722	P	0.0	P;P;P	0.38788	0.647;0.515;0.647	B;B;B	0.28553	0.091;0.042;0.091	T	0.48514	-0.9029	9	0.30854	T	0.27	-5.1128	7.524	0.27645	0.1339:0.7181:0.0:0.1479	rs3739040;rs52790517;rs60372489;rs3739040	589;645;621	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	L	589;621;645	ENSP00000289175:P589L;ENSP00000244815:P621L;ENSP00000375857:P645L	ENSP00000244815:P621L	P	+	2	0	LRRFIP1	238337029	0.000000	0.05858	0.255000	0.24374	0.077000	0.17291	-0.672000	0.05244	0.614000	0.30107	0.609000	0.83330	CCG	C|0.882;T|0.118	0.118	strong		0.413	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		T	238672290	C	T	238672290	3	4	22	1	0	0	0	0	1	0	0	0	9027	652	23	1	2652	1	LRRFIP1	2	238672290	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37	238672290	4527083	1890	6998										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238672703	238672703	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaggaagagagccagggCacttcaatccagaaagcaga	11	11	1	3	rs3739038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238672703C>G	ENST00000392000.4	+	11	2464	c.2347C>G	c.(2347-2349)Cac>Gac	p.H783D	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.H727D|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.H759D|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	783			H -> D (in dbSNP:rs3739038).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAGCCAGGGCACTTCAATCC	0.512													G|||	1803	0.360024	0.3563	0.3026	5008	,	,		20722	0.505		0.2495	False		,,,				2504	0.3701				p.H783D		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.C2347G						PASS	.	G	,,ASP/HIS,ASP/HIS,ASP/HIS	1635,2771	659.0+/-400.5	319,997,887	78	77	77		,,2347,2179,2275	1.5	0	2	dbSNP_107	77	2004,6596	721.6+/-406.4	219,1566,2515	yes	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,81,81,81	538,2563,3402	GG,GC,CC		23.3023,37.1085,27.9794	,,benign,benign,benign	,,783/809,727/753,759/785	238672703	3639,9367	2203	4300	6503	SO:0001583	missense	9208	exon11			CCAGGGCACTTCA	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.2347C>G	2.37:g.238672703C>G	ENSP00000375857:p.His783Asp	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	137	57	0.416058	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	811	0.37133699633699635	198	0.4024390243902439	115	0.31767955801104975	318	0.5559440559440559	180	0.23746701846965698	G	0.088	-1.172355	0.01646	0.371085	0.233023	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.06768	3.27;3.27;3.26	5.34	1.5	0.22942	.	8.116580	0.00166	N	0.000000	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45629	-0.9248	9	0.02654	T	1	-13.1981	1.2179	0.01918	0.3763:0.1334:0.3364:0.1539	rs3739038;rs52824301;rs58509875;rs3739038	727;783;759	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	D	727;759;783	ENSP00000289175:H727D;ENSP00000244815:H759D;ENSP00000375857:H783D	ENSP00000244815:H759D	H	+	1	0	LRRFIP1	238337442	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.219000	0.17641	0.268000	0.21939	-0.120000	0.15030	CAC	C|0.687;G|0.312	0.312	strong		0.512	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238672703	C	G	238672703	3	3	22	1	0	0	0	0	1	0	0	0	9027	710	25	4	3065	4	LRRFIP1	2	238672703	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	413	238672703	4526670	1891	6999										
RBM44	375316	hgsc.bcm.edu	37	chr2	238725833	238725833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaagatactaacacagagAgtactcagtttcagtcaagt	8	8	4	2	rs73086770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:238725833A>G	ENST00000409864.1	+	3	528	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.S92G			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	91						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TAACACAGAGAGTACTCAGTT	0.323													A|||	182	0.0363419	0.1286	0.0144	5008	,	,		19482	0.0		0.002	False		,,,				2504	0.0				p.S92G		Atlas-SNP	.											.	RBM44	167	.	0			c.A274G						PASS	.	A	GLY/SER	365,3309		23,319,1495	60	60	60		274	3.2	0	2	dbSNP_130	60	19,8129		0,19,4055	yes	missense	RBM44	NM_001080504.2	56	23,338,5550	GG,GA,AA		0.2332,9.9347,3.2482	possibly-damaging	92/1053	238725833	384,11438	1837	4074	5911	SO:0001583	missense	375316	exon3			ACAGAGAGTACTC	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.274A>G	2.37:g.238725833A>G	ENSP00000386727:p.Ser92Gly	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	213	85	0.399061	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	88	0.040293040293040296	79	0.16056910569105692	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	A	9.408	1.079719	0.20309	0.099347	0.002332	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.33216	1.42;1.42	5.62	3.15	0.36227	.	0.588960	0.17242	N	0.181502	T	0.00073	0.0002	L	0.39898	1.24	0.80722	P	0.0	P	0.49090	0.919	B	0.39339	0.297	T	0.11941	-1.0567	9	0.32370	T	0.25	-3.005	9.875	0.41197	0.6671:0.3329:0.0:0.0	.	91	Q6ZP01	RBM44_HUMAN	G	92	ENSP00000321179:S92G;ENSP00000386727:S92G	ENSP00000321179:S92G	S	+	1	0	RBM44	238390572	0.000000	0.05858	0.000000	0.03702	0.785000	0.44390	0.011000	0.13264	0.374000	0.24650	0.460000	0.39030	AGT	A|0.967;G|0.033	0.033	strong		0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		G	238725833	A	G	238725833	3	3	22	1	0	0	0	0	1	0	0	0	13138	304	11	3	280	3	RBM44	2	238725833	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53130	238725833	4473540	1892	7000										
SCLY	51540	hgsc.bcm.edu	37	chr2	239006879	239006879	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagctacggtgtccccttCgacgtggccaggaacgcgct	13	14	0	1	rs12993309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239006879C>T	ENST00000555827.1	+	12	1285	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SCLY_ENST00000429612.2_Silent_p.F201F|SCLY_ENST00000422984.2_Silent_p.F313F|SCLY_ENST00000254663.6_Silent_p.F415F|ESPNL_ENST00000409169.1_5'Flank|ESPNL_ENST00000343063.3_5'Flank			Q96I15	SCLY_HUMAN	selenocysteine lyase	407					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GTGTCCCCTTCGACGTGGCCA	0.706													C|||	1231	0.245807	0.2337	0.2161	5008	,	,		15225	0.2341		0.1968	False		,,,				2504	0.3456				p.F415F	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	Atlas-SNP	.											SCLY,NS,carcinoma,0,2	SCLY	51	2	0			c.C1245T						PASS	.	C		1169,3237	388.9+/-327.1	157,855,1191	36	35	35		1245	-6.8	0	2	dbSNP_121	35	1661,6937	287.4+/-298.2	156,1349,2794	no	coding-synonymous	SCLY	NM_016510.5		313,2204,3985	TT,TC,CC		19.3184,26.532,21.7625		415/454	239006879	2830,10174	2203	4299	6502	SO:0001819	synonymous_variant	51540	exon12			CCCCTTCGACGTG	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1221C>T	2.37:g.239006879C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37																																																																																				C|0.785;T|0.215	0.215	strong		0.706	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		T	239006879	C	T	239006879	2	4	22	1	0	0	0	0	0	0	0	1	13907	883	31	1		1	SCLY	2	239006879	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	281046	239006879	4192494	1893	7001										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239010690	239010690	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcggccacgctagagaccCgggagggagcccggccgctg	16	15	0	1	rs34878344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239010690C>A	ENST00000343063.3	+	2	666	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	ESPNL_ENST00000409169.1_Silent_p.R135R	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	135										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTAGAGACCCGGGAGGGAGC	0.697													C|||	677	0.135184	0.0469	0.1744	5008	,	,		13903	0.0298		0.1581	False		,,,				2504	0.3119				p.R135R		Atlas-SNP	.											.	ESPNL	63	.	0			c.C403A						PASS	.	C		323,4055		19,285,1885	11	14	13		403	3.7	0.3	2	dbSNP_126	13	1275,7291		87,1101,3095	no	coding-synonymous	ESPNL	NM_194312.2		106,1386,4980	AA,AC,CC		14.8844,7.3778,12.3455		135/1006	239010690	1598,11346	2189	4283	6472	SO:0001819	synonymous_variant	339768	exon2			GAGACCCGGGAGG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.403C>A	2.37:g.239010690C>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	74	46	0.621622	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			C|0.882;A|0.118	0.118	strong		0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239010690	C	A	239010690	2	1	22	1	0	0	0	0	0	0	0	1	5255	643	23	4		4	ESPNL	2	239010690	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3811	239010690	4188683	1894	7002										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239010719	239010719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccggccgctgcaccacgcTgccgtcagtggggacctgac	14	17	1	1	rs36066915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239010719T>C	ENST00000343063.3	+	2	695	c.432T>C	c.(430-432)gcT>gcC	p.A144A	ESPNL_ENST00000409169.1_Silent_p.A144A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	144										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCACCACGCTGCCGTCAGTG	0.706													C|||	3051	0.609225	0.5635	0.5692	5008	,	,		13875	0.5903		0.6988	False		,,,				2504	0.6268				p.A144A		Atlas-SNP	.											.	ESPNL	63	.	0			c.T432C						PASS	.	C		2656,1670		873,910,380	9	11	10		432	-9.2	0	2	dbSNP_126	10	5553,2921		1889,1775,573	no	coding-synonymous	ESPNL	NM_194312.2		2762,2685,953	CC,CT,TT		34.4701,38.6038,35.8672		144/1006	239010719	8209,4591	2163	4237	6400	SO:0001819	synonymous_variant	339768	exon2			CCACGCTGCCGTC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.432T>C	2.37:g.239010719T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			T|0.377;C|0.623	0.623	strong		0.706	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		C	239010719	T	C	239010719	2	2	22	1	0	0	0	0	0	0	0	1	5255	1567	55	3		3	ESPNL	2	239010719	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29	239010719	4188654	1895	7003										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239025630	239025630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacctggcggagtaccaTggacaccgggactgcgccca	14	14	0	1	rs11904159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239025630T>C	ENST00000343063.3	+	5	1205	c.942T>C	c.(940-942)caT>caC	p.H314H	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	314										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGAGTACCATGGACACCGGG	0.687													C|||	983	0.196286	0.2867	0.1412	5008	,	,		17120	0.2302		0.1322	False		,,,				2504	0.1442				p.H314H		Atlas-SNP	.											.	ESPNL	63	.	0			c.T942C						PASS	.	C		1121,3279	705.9+/-407.3	174,773,1253	69	55	59		942	-2.8	0.9	2	dbSNP_120	59	1415,7177	748.6+/-407.3	129,1157,3010	no	coding-synonymous	ESPNL	NM_194312.2		303,1930,4263	CC,CT,TT		16.4688,25.4773,19.5197		314/1006	239025630	2536,10456	2200	4296	6496	SO:0001819	synonymous_variant	339768	exon5			GTACCATGGACAC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.942T>C	2.37:g.239025630T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	134	65	0.485075	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			T|0.803;C|0.197	0.197	strong		0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		C	239025630	T	C	239025630	2	2	22	1	0	0	0	0	0	0	0	1	5255	1461	51	2		2	ESPNL	2	239025630	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14911	239025630	4173743	1896	7004										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239025645	239025645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccatggacaccgggactgCgcccagtacctgcgggaggt	14	13	0	0	rs11897736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239025645C>T	ENST00000343063.3	+	5	1220	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	319										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCGGGACTGCGCCCAGTACC	0.692													T|||	985	0.196685	0.2874	0.1412	5008	,	,		16520	0.2302		0.1322	False		,,,				2504	0.1452				p.C319C		Atlas-SNP	.											.	ESPNL	63	.	0			c.C957T						PASS	.	T		1121,3279	696.8+/-406.1	172,777,1251	51	41	44		957	-5.5	0.8	2	dbSNP_120	44	1413,7179	743.9+/-407.2	128,1157,3011	no	coding-synonymous	ESPNL	NM_194312.2		300,1934,4262	TT,TC,CC		16.4455,25.4773,19.5043		319/1006	239025645	2534,10458	2200	4296	6496	SO:0001819	synonymous_variant	339768	exon5			GGACTGCGCCCAG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.957C>T	2.37:g.239025645C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	108	59	0.546296	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			C|0.808;T|0.192	0.192	strong		0.692	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		T	239025645	C	T	239025645	2	4	22	1	0	0	0	0	0	0	0	1	5255	776	27	1		1	ESPNL	2	239025645	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	239025645	4173728	1897	7005										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239039183	239039183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccctgctgctgaagggcGtgcatgggctagtacagggg	17	9	0	1	rs73102303	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239039183G>A	ENST00000343063.3	+	9	2091	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.V566M|ESPNL_ENST00000409506.1_Missense_Mutation_p.V242M	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	610				V -> M (in Ref. 1; BAC85884 and 3; AAH42051). {ECO:0000305}.						endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGAAGGGCGTGCATGGGCT	0.711													G|||	658	0.13139	0.2413	0.085	5008	,	,		16293	0.0526		0.1113	False		,,,				2504	0.1176				p.V610M		Atlas-SNP	.											ESPNL,NS,carcinoma,0,1	ESPNL	63	1	0			c.G1828A						PASS	.	G	MET/VAL	862,3504		81,700,1402	10	11	11		1828	-2.3	0.3	2	dbSNP_130	11	920,7564		49,822,3371	yes	missense	ESPNL	NM_194312.2	21	130,1522,4773	AA,AG,GG		10.8439,19.7435,13.8677	benign	610/1006	239039183	1782,11068	2183	4242	6425	SO:0001583	missense	339768	exon9			AAGGGCGTGCATG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1828G>A	2.37:g.239039183G>A	ENSP00000339115:p.Val610Met	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	66	38	0.575758	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	249	0.11401098901098901	97	0.19715447154471544	35	0.09668508287292818	41	0.07167832167832168	76	0.10026385224274406	G	0.031	-1.332649	0.01298	0.197435	0.108439	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.63580	-0.05;1.04;0.61	3.78	-2.26	0.06867	.	0.423150	0.21191	N	0.078648	T	0.00039	0.0001	N	0.05124	-0.11	0.80722	P	0.0	B;B	0.33494	0.414;0.291	B;B	0.20384	0.029;0.013	T	0.19031	-1.0318	9	0.19147	T	0.46	-12.2189	9.0509	0.36376	0.6378:0.0:0.3622:0.0	.	566;610	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	M	610;566;242	ENSP00000339115:V610M;ENSP00000386577:V566M;ENSP00000386579:V242M	ENSP00000339115:V610M	V	+	1	0	ESPNL	238703922	0.016000	0.18221	0.297000	0.24988	0.220000	0.24768	-0.513000	0.06305	-0.396000	0.07703	0.205000	0.17691	GTG	G|0.871;A|0.129	0.129	strong		0.711	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239039183	G	A	239039183	3	1	22	1	0	0	0	0	1	0	0	0	5255	1145	40	1	1862	1	ESPNL	2	239039183	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13538	239039183	4160190	1898	7006										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239039779	239039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccatcacccacctgctGggcaactggaaggccatcat	9	15	2	0	rs73102306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239039779G>A	ENST00000343063.3	+	9	2687	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	ESPNL_ENST00000409506.1_Silent_p.L440L|ESPNL_ENST00000409169.1_Silent_p.L764L|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	808										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCACCTGCTGGGCAACTGGA	0.756													G|||	435	0.086861	0.0968	0.0634	5008	,	,		12580	0.0536		0.0915	False		,,,				2504	0.1196				p.L808L		Atlas-SNP	.											.	ESPNL	63	.	0			c.G2424A						PASS	.	G		281,3529		10,261,1634	3	3	3		2424	2.7	1	2	dbSNP_130	3	539,6963		9,521,3221	no	coding-synonymous	ESPNL	NM_194312.2		19,782,4855	AA,AG,GG		7.1848,7.3753,7.2489		808/1006	239039779	820,10492	1905	3751	5656	SO:0001819	synonymous_variant	339768	exon9			CCTGCTGGGCAAC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2424G>A	2.37:g.239039779G>A		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.922;A|0.078	0.078	strong		0.756	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239039779	G	A	239039779	2	1	22	1	0	0	0	0	0	0	0	1	5255	1335	47	2		2	ESPNL	2	239039779	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	596	239039779	4159594	1899	7007										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239040218	239040218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgggcccctgcctcacgccGccgtcccctgcagcggccct	11	22	1	0	rs73102309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239040218G>A	ENST00000343063.3	+	9	3126	c.2863G>A	c.(2863-2865)Gcc>Acc	p.A955T	ESPNL_ENST00000409506.1_Missense_Mutation_p.A587T|ESPNL_ENST00000409169.1_Missense_Mutation_p.A911T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	955				A -> T (in Ref. 1; BAC85884). {ECO:0000305}.						endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCCTCACGCCGCCGTCCCCTG	0.687													G|||	670	0.133786	0.2368	0.0908	5008	,	,		14386	0.0546		0.1173	False		,,,				2504	0.1237				p.A955T		Atlas-SNP	.											.	ESPNL	63	.	0			c.G2863A						PASS	.	G	THR/ALA	921,3467		109,703,1382	16	18	17		2863	-8.3	0	2	dbSNP_130	17	1011,7585		55,901,3342	no	missense	ESPNL	NM_194312.2	58	164,1604,4724	AA,AG,GG		11.7613,20.9891,14.8799	benign	955/1006	239040218	1932,11052	2194	4298	6492	SO:0001583	missense	339768	exon9			CACGCCGCCGTCC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2863G>A	2.37:g.239040218G>A	ENSP00000339115:p.Ala955Thr	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	14	7	0.5	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	256	0.11721611721611722	95	0.19308943089430894	35	0.09668508287292818	41	0.07167832167832168	85	0.11213720316622691	G	5.082	0.200731	0.09652	0.209891	0.117613	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.63744	-0.06;1.04;0.64	4.16	-8.28	0.01013	.	0.795116	0.10989	N	0.611773	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.15549	-1.0433	9	0.15499	T	0.54	-0.9499	0.4266	0.00464	0.3016:0.1957:0.2867:0.216	.	911;955	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	T	955;911;587	ENSP00000339115:A955T;ENSP00000386577:A911T;ENSP00000386579:A587T	ENSP00000339115:A955T	A	+	1	0	ESPNL	238704957	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.492000	0.02300	-1.336000	0.02238	-0.378000	0.06908	GCC	G|0.865;A|0.135	0.135	strong		0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239040218	G	A	239040218	3	1	22	1	0	0	0	0	1	0	0	0	5255	1087	38	1	2897	1	ESPNL	2	239040218	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	439	239040218	4159155	1900	7008										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239040343	239040343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgccttctggaaggagaaGgaagctgagatgttcaactt	12	6	2	2	rs73102311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239040343G>A	ENST00000343063.3	+	9	3251	c.2988G>A	c.(2986-2988)aaG>aaA	p.K996K	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.K952K|ESPNL_ENST00000409506.1_Silent_p.K628K	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	996										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAAGGAGAAGGAAGCTGAGA	0.547													G|||	429	0.0856629	0.0923	0.062	5008	,	,		19468	0.0546		0.0915	False		,,,				2504	0.1196				p.K996K		Atlas-SNP	.											.	ESPNL	63	.	0			c.G2988A						PASS	.	G		379,4025	183.3+/-210.9	17,345,1840	70	75	74		2988	-4.2	0.9	2	dbSNP_130	74	763,7837	181.0+/-229.8	35,693,3572	no	coding-synonymous	ESPNL	NM_194312.2		52,1038,5412	AA,AG,GG		8.8721,8.6058,8.7819		996/1006	239040343	1142,11862	2202	4300	6502	SO:0001819	synonymous_variant	339768	exon9			GGAGAAGGAAGCT	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2988G>A	2.37:g.239040343G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.914;A|0.086	0.086	strong		0.547	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239040343	G	A	239040343	2	1	22	1	0	0	0	0	0	0	0	1	5255	991	35	2		2	ESPNL	2	239040343	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	125	239040343	4159030	1901	7009										
KLHL30	377007	hgsc.bcm.edu	37	chr2	239059610	239059610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacctggacccgccacggCgccctgccccggctctggct	12	20	1	0	rs61736173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239059610C>T	ENST00000409223.1	+	8	1748	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	KLHL30_ENST00000305959.4_Silent_p.G529G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	547										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCGCCACGGCGCCCTGCCCC	0.682													c|||	172	0.034345	0.0711	0.0317	5008	,	,		13240	0.0		0.0517	False		,,,				2504	0.0041				p.G547G		Atlas-SNP	.											.	KLHL30	79	.	0			c.C1641T						PASS	.	T		255,3769		9,237,1766	8	14	12		1641	-0.5	1	2	dbSNP_129	12	387,7855		11,365,3745	no	coding-synonymous	KLHL30	NM_198582.3		20,602,5511	TT,TC,CC		4.6955,6.337,5.234		547/579	239059610	642,11624	2012	4121	6133	SO:0001819	synonymous_variant	377007	exon8			CCACGGCGCCCTG		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1641C>T	2.37:g.239059610C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	172	95	0.552326	NM_198582	Q6ZUS1	Silent	SNP	ENST00000409223.1	37	CCDS46555.2																																																																																			C|0.961;T|0.039	0.039	strong		0.682	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		T	239059610	C	T	239059610	2	4	22	1	0	0	0	0	0	0	0	1	8384	755	27	1		1	KLHL30	2	239059610	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19267	239059610	4139763	1902	7010										
PER2	8864	hgsc.bcm.edu	37	chr2	239162182	239162182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagggtgaccaggctgtggCgttcaagcccaccagcgggg	17	11	1	2	rs55704277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239162182C>T	ENST00000254657.3	-	19	2761	c.2482G>A	c.(2482-2484)Gcc>Acc	p.A828T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	828					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGGCTGTGGCGTTCAAGCCC	0.642													C|||	170	0.0339457	0.1203	0.0144	5008	,	,		13041	0.0		0.001	False		,,,				2504	0.0				p.A828T		Atlas-SNP	.											.	PER2	85	.	0			c.G2482A						PASS	.	C	THR/ALA	439,3963		25,389,1787	17	17	17		2482	-5.8	0	2	dbSNP_129	17	11,8585		0,11,4287	yes	missense	PER2	NM_022817.2	58	25,400,6074	TT,TC,CC		0.128,9.9727,3.4621	benign	828/1256	239162182	450,12548	2201	4298	6499	SO:0001583	missense	8864	exon19			CTGTGGCGTTCAA	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2482G>A	2.37:g.239162182C>T	ENSP00000254657:p.Ala828Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	96	57	0.59375	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	58	0.026556776556776556	51	0.10365853658536585	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	C	0.015	-1.561098	0.00910	0.099727	0.00128	ENSG00000132326	ENST00000254657	T	0.10763	2.84	4.21	-5.83	0.02325	.	0.461183	0.24407	N	0.038781	T	0.00109	0.0003	N	0.12443	0.215	0.09310	N	0.999999	B;B	0.12630	0.006;0.002	B;B	0.06405	0.002;0.002	T	0.30446	-0.9978	10	0.05721	T	0.95	-14.6187	5.5214	0.16936	0.2369:0.2108:0.0:0.5523	rs55704277;rs59829497	828;828	B4DH14;O15055	.;PER2_HUMAN	T	828	ENSP00000254657:A828T	ENSP00000254657:A828T	A	-	1	0	PER2	238826921	0.001000	0.12720	0.011000	0.14972	0.011000	0.07611	-0.224000	0.09164	-0.932000	0.03742	-2.664000	0.00146	GCC	C|0.962;T|0.038	0.038	strong		0.642	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239162182	C	T	239162182	3	4	22	1	0	0	0	0	1	0	0	0	11730	768	27	1	1305	1	PER2	2	239162182	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102572	239162182	4037191	1903	7011										
TRAF3IP1	26146	hgsc.bcm.edu	37	chr2	239237783	239237783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacagaggcaacagggagCgggacagagactccgagcgc	16	10	0	3	rs34723381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:239237783C>T	ENST00000373327.4	+	5	937	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R239W|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R239W	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	239	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.		R -> W (in dbSNP:rs34723381).		cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		caacagggagcgggacagaga	0.597													C|||	228	0.0455272	0.1611	0.0216	5008	,	,		16990	0.0		0.0	False		,,,				2504	0.0				p.R239W		Atlas-SNP	.											.	TRAF3IP1	58	.	0			c.C715T						PASS	.	C	TRP/ARG,TRP/ARG	516,3828		27,462,1683	71	72	72		715,715	3.2	0.1	2	dbSNP_126	72	8,8478		0,8,4235	yes	missense,missense	TRAF3IP1	NM_001139490.1,NM_015650.3	101,101	27,470,5918	TT,TC,CC		0.0943,11.8785,4.0842	probably-damaging,probably-damaging	239/626,239/692	239237783	524,12306	2172	4243	6415	SO:0001583	missense	26146	exon5			AGGGAGCGGGACA	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.715C>T	2.37:g.239237783C>T	ENSP00000362424:p.Arg239Trp	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	132	55	0.416667	NM_015650	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	101	0.04624542124542125	91	0.18495934959349594	10	0.027624309392265192	0	0.0	0	0.0	C	15.99	2.996440	0.54147	0.118785	9.43E-4	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.15372	2.43;2.43;2.43	4.12	3.17	0.36434	.	0.811391	0.10616	N	0.653948	T	0.00073	0.0002	M	0.61703	1.905	0.46096	P	0.0011360000000000259	D;D	0.69078	0.997;0.997	P;P	0.55055	0.656;0.767	T	0.10847	-1.0612	9	0.72032	D	0.01	-4.3779	12.5493	0.56218	0.0:0.7311:0.2689:0.0	rs34723381	239;239	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	W	239	ENSP00000375851:R239W;ENSP00000362424:R239W;ENSP00000375852:R239W	ENSP00000362424:R239W	R	+	1	2	TRAF3IP1	238902522	0.112000	0.22096	0.055000	0.19348	0.014000	0.08584	0.585000	0.23879	2.023000	0.59567	0.467000	0.42956	CGG	C|0.950;T|0.050	0.050	strong		0.597	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		T	239237783	C	T	239237783	3	4	22	1	0	0	0	0	1	0	0	0	16437	759	27	1	733	1	TRAF3IP1	2	239237783	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75601	239237783	3961590	1904	7012										
HDAC4	9759	hgsc.bcm.edu	37	chr2	240003873	240003873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatgtacaggacgctgggGtcgctgtagaaagcctgctg	15	9	0	1	rs10168964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240003873G>A	ENST00000345617.3	-	21	3353	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	HDAC4_ENST00000543185.1_Silent_p.D438D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	854	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGACGCTGGGGTCGCTGTAGA	0.587													G|||	381	0.0760783	0.2799	0.0159	5008	,	,		15695	0.0		0.0	False		,,,				2504	0.0				p.D854D		Atlas-SNP	.											.	HDAC4	127	.	0			c.C2562T						PASS	.	G		1088,3318	396.7+/-330.2	134,820,1249	172	156	161		2562	3	1	2	dbSNP_119	161	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	HDAC4	NM_006037.3		134,826,5543	AA,AG,GG		0.0698,24.6936,8.4115		854/1085	240003873	1094,11912	2203	4300	6503	SO:0001819	synonymous_variant	9759	exon21			GCTGGGGTCGCTG	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2562C>T	2.37:g.240003873G>A		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	326	324	0.993865	NM_006037	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																			G|0.924;A|0.076	0.076	strong		0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		A	240003873	G	A	240003873	2	1	22	1	0	0	0	0	0	0	0	1	7009	1252	44	2		2	HDAC4	2	240003873	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	766090	240003873	3195500	1905	7013										
HDAC4	9759	hgsc.bcm.edu	37	chr2	240111556	240111556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcgtggagctgcgcctcGtgctgccgggagagctgctc	16	13	0	1	rs6740794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240111556G>A	ENST00000345617.3	-	4	1103	c.312C>T	c.(310-312)caC>caT	p.H104H	HDAC4_ENST00000541256.1_Silent_p.H73H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	104					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTGCGCCTCGTGCTGCCGGG	0.677													g|||	239	0.0477236	0.171	0.0173	5008	,	,		14486	0.0		0.001	False		,,,				2504	0.0				p.H104H		Atlas-SNP	.											HDAC4,colon,carcinoma,0,1	HDAC4	127	1	0			c.C312T						PASS	.	A		671,3735	265.6+/-266.7	50,571,1582	30	27	28		312	-0.9	1	2	dbSNP_116	28	12,8588	7.1+/-27.0	0,12,4288	no	coding-synonymous	HDAC4	NM_006037.3		50,583,5870	AA,AG,GG		0.1395,15.2292,5.2514		104/1085	240111556	683,12323	2203	4300	6503	SO:0001819	synonymous_variant	9759	exon4			CGCCTCGTGCTGC	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.312C>T	2.37:g.240111556G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_006037	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																			G|0.938;A|0.062	0.062	strong		0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		A	240111556	G	A	240111556	2	1	22	1	0	0	0	0	0	0	0	1	7009	1136	40	1		1	HDAC4	2	240111556	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	107683	240111556	3087817	1906	7014										
NDUFA10	4705	hgsc.bcm.edu	37	chr2	240961728	240961728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacattccatagcgcagTttgcactgcacactgctatg	8	13	0	0	rs2083411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240961728T>C	ENST00000252711.2	-	2	205	c.105A>G	c.(103-105)aaA>aaG	p.K35K	NDUFA10_ENST00000404554.1_Silent_p.K35K|NDUFA10_ENST00000307300.4_Silent_p.K35K|NDUFA10_ENST00000407129.3_Silent_p.K35K	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CATAGCGCAGTTTGCACTGCA	0.428													C|||	3518	0.702476	0.8011	0.6311	5008	,	,		14147	0.7867		0.6779	False		,,,				2504	0.5583				p.K35K		Atlas-SNP	.											.	NDUFA10	40	.	0			c.A105G						PASS	.	C		3465,941	358.1+/-314.2	1376,713,114	129	110	116		105	3.6	0	2	dbSNP_96	116	5568,3032	468.3+/-367.3	1831,1906,563	no	coding-synonymous	NDUFA10	NM_004544.3		3207,2619,677	CC,CT,TT		35.2558,21.3572,30.5474		35/356	240961728	9033,3973	2203	4300	6503	SO:0001819	synonymous_variant	4705	exon2			GCGCAGTTTGCAC	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.105A>G	2.37:g.240961728T>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	215	215	1	NM_004544	Q8WXC9	Silent	SNP	ENST00000252711.2	37	CCDS2531.1																																																																																			T|0.299;C|0.701	0.701	strong		0.428	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		C	240961728	T	C	240961728	2	2	22	1	0	0	0	0	0	0	0	1	10260	1722	60	2		2	NDUFA10	2	240961728	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	850172	240961728	2237645	1907	7015										
OR6B2	389090	hgsc.bcm.edu	37	chr2	240969312	240969312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgggggaaatgtcacAgaagaagtggttcaagacgt	16	4	2	3	rs10187574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240969312A>G	ENST00000402971.2	-	1	594	c.535T>C	c.(535-537)Tgt>Cgt	p.C179R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	179			C -> R (in dbSNP:rs10187574).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GAAATGTCACAGAAGAAGTGG	0.527													A|||	1381	0.275759	0.1558	0.2896	5008	,	,		23316	0.4583		0.3509	False		,,,				2504	0.1626				p.C179R		Atlas-SNP	.											.	OR6B2	30	.	0			c.T535C						PASS	.						31	33	32					2																	240969312		1911	4108	6019	SO:0001583	missense	389090	exon1			TGTCACAGAAGAA		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.535T>C	2.37:g.240969312A>G	ENSP00000384563:p.Cys179Arg	Somatic	443	0	0		WXS	Illumina HiSeq	Phase_I	481	186	0.386694	NM_001005853	B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	CCDS46559.1	717	0.3282967032967033	74	0.15040650406504066	111	0.30662983425414364	246	0.43006993006993005	286	0.37730870712401055	A	17.27	3.348132	0.61183	.	.	ENSG00000182083	ENST00000402971	T	0.62498	0.02	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.00012	0.0000	H	0.99074	4.42	0.09310	P	0.9999999587148	D	0.89917	1.0	D	0.97110	1.0	T	0.13045	-1.0524	9	0.87932	D	0	.	11.8219	0.52242	1.0:0.0:0.0:0.0	rs10187574;rs60097153	179	Q6IFH4	OR6B2_HUMAN	R	179	ENSP00000384563:C179R	ENSP00000384563:C179R	C	-	1	0	OR6B2	240617985	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	8.092000	0.89530	1.938000	0.56188	0.482000	0.46254	TGT	A|0.703;G|0.297	0.297	strong		0.527	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		G	240969312	A	G	240969312	3	3	22	1	0	0	0	0	1	0	0	0	11188	188	7	3	405	3	OR6B2	2	240969312	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7584	240969312	2230061	1908	7016										
PRR21	643905	hgsc.bcm.edu	37	chr2	240981362	240981362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgtggctgaagaggcgTagatgaagagacttggatga	17	4	0	6	rs115420937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240981362T>C	ENST00000408934.1	-	1	1037	c.1038A>G	c.(1036-1038)ctA>ctG	p.L346L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	346										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGAAGAGGCGTAGATGAAGAG	0.562													t|||	43	0.00858626	0.031	0.0029	5008	,	,		22045	0.0		0.0	False		,,,				2504	0.0				p.L346L		Atlas-SNP	.											.	PRR21	53	.	0			c.A1038G						PASS	.	T		100,4306	80.4+/-118.8	3,94,2106	145	128	134		1038	-1	0	2	dbSNP_132	134	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	PRR21	NM_001080835.1		3,98,6402	CC,CT,TT		0.0465,2.2696,0.7996		346/390	240981362	104,12902	2203	4300	6503	SO:0001819	synonymous_variant	643905	exon1			GAGGCGTAGATGA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.1038A>G	2.37:g.240981362T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			T|0.992;C|0.008	0.008	strong		0.562	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		C	240981362	T	C	240981362	2	2	22	1	0	0	0	0	0	0	0	1	12592	1625	57	2		2	PRR21	2	240981362	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12050	240981362	2218011	1909	7017										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982009	240982009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggaggaagggccgtggGtgaagaggcatggacgaagg	21	5	0	2	rs202192655		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240982009G>A	ENST00000408934.1	-	1	390	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	131	Pro-rich.							p.P131S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGGCCGTGGGTGAAGAGGCA	0.647																																					p.P131S		Atlas-SNP	.											PRR21,NS,malignant_melanoma,0,2	PRR21	53	2	2	Substitution - Missense(2)	NS(2)	c.C391T						scavenged	.						4	3	3					2																	240982009		1301	2740	4041	SO:0001583	missense	643905	exon1			CCGTGGGTGAAGA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.391C>T	2.37:g.240982009G>A	ENSP00000386166:p.Pro131Ser	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	12	2	0.166667	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.469388	0.01044	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13307	2.6;2.6	1.73	-3.03	0.05429	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.61940	0.896	T	0.12993	-1.0526	9	0.10111	T	0.7	.	7.6745	0.28478	0.3709:0.0:0.6291:0.0	.	131	Q8WXC7	PRR21_HUMAN	S	131	ENSP00000386166:P131S;ENSP00000418240:P131S	ENSP00000386166:P131S	P	-	1	0	PRR21	240630682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.053000	0.03500	-0.874000	0.04027	-0.481000	0.04817	CCC	.	.	weak		0.647	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982009	G	A	240982009	3	1	22	1	0	0	0	0	1	0	0	0	12592	1261	44	2	781	2	PRR21	2	240982009	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	647	240982009	2217364	1910	7018										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982052	240982052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	21	5	0	4	rs77588089		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																					p.S116S		Atlas-SNP	.											PRR21,pharynx,carcinoma,0,4	PRR21	53	4	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)	c.G348C						scavenged	.						5	6	6					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905	exon1			CATGGACGAAGGG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	48	18	0.375	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			C|0.250;G|0.750	0.750	weak		0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982052	C	G	240982052	2	3	22	1	0	0	0	0	0	0	0	1	12592	523	19	4		4	PRR21	2	240982052	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43	240982052	2217321	1911	7019										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982200	240982200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagccgtgggtgaagggaCatgggtgaagagccgtggat	19	5	0	4	rs114958540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240982200C>T	ENST00000408934.1	-	1	199	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	67	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GGTGAAGGGACATGGGTGAAG	0.607													N|||	410	0.081869	0.0651	0.0605	5008	,	,		14426	0.1677		0.0666	False		,,,				2504	0.047				p.C67Y		Atlas-SNP	.											PRR21,NS,carcinoma,+1,2	PRR21	53	2	0			c.G200A						scavenged	.						136	123	127					2																	240982200		2202	4300	6502	SO:0001583	missense	643905	exon1			AAGGGACATGGGT	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.200G>A	2.37:g.240982200C>T	ENSP00000386166:p.Cys67Tyr	Somatic	147	2	0.0136054		WXS	Illumina HiSeq	Phase_I	170	10	0.0588235	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	2.358	-0.347289	0.05208	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13420	2.59;2.59	1.46	-2.3	0.06785	.	.	.	.	.	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.43637	-0.9379	9	0.19590	T	0.45	.	8.228	0.31582	0.0:0.7349:0.0:0.2651	.	67	Q8WXC7	PRR21_HUMAN	Y	67	ENSP00000386166:C67Y;ENSP00000418240:C67Y	ENSP00000386166:C67Y	C	-	2	0	PRR21	240630873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.852000	0.04308	-0.717000	0.04955	-1.756000	0.00673	TGT	C|0.980;T|0.019	0.019	strong		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		T	240982200	C	T	240982200	3	4	22	1	0	0	0	0	1	0	0	0	12592	478	17	2	972	2	PRR21	2	240982200	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148	240982200	2217173	1912	7020										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982312	240982312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagccgtggatgagccgtGggggaagagctgttgaagaa	18	5	0	5	rs115609219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240982312G>A	ENST00000408934.1	-	1	87	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	30										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GATGAGCCGTGGGGGAAGAGC	0.577													N|||	311	0.0621006	0.0431	0.1311	5008	,	,		21476	0.005		0.0258	False		,,,				2504	0.135				p.H30Y		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	0			c.C88T						scavenged	.		TYR/HIS	166,4232		5,156,2038	101	89	93		88	-1.3	0	2	dbSNP_132	93	355,8245		4,347,3949	yes	missense	PRR21	NM_001080835.1	83	9,503,5987	AA,AG,GG		4.1279,3.7744,4.0083	possibly-damaging	30/390	240982312	521,12477	2199	4300	6499	SO:0001583	missense	643905	exon1			AGCCGTGGGGGAA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.88C>T	2.37:g.240982312G>A	ENSP00000386166:p.His30Tyr	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	123	47	0.382114	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	77	0.035256410256410256	23	0.046747967479674794	32	0.08839779005524862	1	0.0017482517482517483	21	0.027704485488126648	N	0.004	-2.279643	0.00254	0.037744	0.041279	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.26518	1.73;1.73	0.656	-1.31	0.09230	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.28385	0.089	T	0.23511	-1.0186	9	0.87932	D	0	.	1.8377	0.03143	0.2596:0.0:0.3871:0.3533	.	30	Q8WXC7	PRR21_HUMAN	Y	30	ENSP00000386166:H30Y;ENSP00000418240:H30Y	ENSP00000386166:H30Y	H	-	1	0	PRR21	240630985	0.970000	0.33590	0.000000	0.03702	0.000000	0.00434	2.083000	0.41615	-0.502000	0.06596	-0.599000	0.04106	CAC	G|0.965;A|0.035	0.035	strong		0.577	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982312	G	A	240982312	3	1	22	1	0	0	0	0	1	0	0	0	12592	1348	47	2	1084	2	PRR21	2	240982312	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112	240982312	2217061	1913	7021										
OR6B3	150681	hgsc.bcm.edu	37	chr2	240984833	240984833	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacagccagggtgatgtgCgcatatgacagcatggtggc	16	8	0	2	rs13389099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:240984833C>G	ENST00000319423.4	-	1	656	c.657G>C	c.(655-657)gcG>gcC	p.A219A	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGGTGATGTGCGCATATGACA	0.592													t|||	1218	0.243211	0.2912	0.1744	5008	,	,		20769	0.2054		0.2614	False		,,,				2504	0.2474				p.A219A		Atlas-SNP	.											.	OR6B3	37	.	0			c.G657C						PASS	.	T		1287,3011		197,893,1059	62	67	65		657	-8.2	0	2	dbSNP_121	65	2297,6203		310,1677,2263	no	coding-synonymous	OR6B3	NM_173351.1		507,2570,3322	GG,GC,CC		27.0235,29.9442,28.0044		219/332	240984833	3584,9214	2149	4250	6399	SO:0001819	synonymous_variant	150681	exon1			GATGTGCGCATAT		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.657G>C	2.37:g.240984833C>G		Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	405	220	0.54321	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																			C|0.751;G|0.249	0.249	strong		0.592	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			G	240984833	C	G	240984833	2	3	22	1	0	0	0	0	0	0	0	1	11189	755	27	4		4	OR6B3	2	240984833	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2521	240984833	2214540	1914	7022										
GPC1	2817	hgsc.bcm.edu	37	chr2	241404914	241404914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccgaggtcatgggtgaCggcctggccaaccagatcaa	12	14	2	2	rs2228329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241404914C>T	ENST00000264039.2	+	8	1541	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	431					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TCATGGGTGACGGCCTGGCCA	0.612													C|||	59	0.0117812	0.0416	0.0058	5008	,	,		19053	0.0		0.0	False		,,,				2504	0.0				p.D431D		Atlas-SNP	.											.	GPC1	32	.	0			c.C1293T						PASS	.	C		128,4278	93.0+/-131.7	2,124,2077	92	77	82		1293	-2.5	1	2	dbSNP_98	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPC1	NM_002081.2		2,125,6376	TT,TC,CC		0.0116,2.9051,0.9918		431/559	241404914	129,12877	2203	4300	6503	SO:0001819	synonymous_variant	2817	exon8			GGGTGACGGCCTG	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1293C>T	2.37:g.241404914C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_002081	B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	CCDS2534.1	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	C	2.512	-0.312638	0.05422	0.029051	1.16E-4	ENSG00000063660	ENST00000420138;ENST00000455111	.	.	.	3.56	-2.52	0.06346	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40459	-0.9562	4	.	.	.	-27.9108	9.046	0.36347	0.0:0.2401:0.0:0.7599	rs2228329;rs2228329	.	.	.	W	471;183	.	.	R	+	1	2	GPC1	241053587	0.000000	0.05858	0.965000	0.40720	0.315000	0.28087	-3.267000	0.00533	-0.465000	0.06953	-0.269000	0.10298	CGG	C|0.991;T|0.009	0.009	strong		0.612	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		T	241404914	C	T	241404914	2	4	22	1	0	0	0	0	0	0	0	1	6597	535	19	1		1	GPC1	2	241404914	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	420081	241404914	1794459	1915	7023										
GPR35	2859	hgsc.bcm.edu	37	chr2	241569535	241569535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcagtggacggagaccCgcatctacatgaccaacctg	11	13	1	2	rs115880579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241569535C>T	ENST00000319838.5	+	6	1108	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	GPR35_ENST00000403859.1_Missense_Mutation_p.R56C|GPR35_ENST00000407714.1_Missense_Mutation_p.R56C|GPR35_ENST00000430267.1_Missense_Mutation_p.R56C|GPR35_ENST00000438013.2_Missense_Mutation_p.R87C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	56					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GACGGAGACCCGCATCTACAT	0.642													C|||	29	0.00579073	0.0204	0.0029	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0				p.R87C		Atlas-SNP	.											GPR35,NS,malignant_melanoma,-1,1	GPR35	43	1	0			c.C259T						PASS	.	C	CYS/ARG,CYS/ARG,CYS/ARG	72,4334	65.3+/-102.7	1,70,2132	103	89	94		259,259,166	3.1	0.2	2	dbSNP_132	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	180,180,180	1,74,6428	TT,TC,CC		0.0465,1.6341,0.5843	probably-damaging,probably-damaging,probably-damaging	87/341,87/341,56/310	241569535	76,12930	2203	4300	6503	SO:0001583	missense	2859	exon6			GAGACCCGCATCT		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.166C>T	2.37:g.241569535C>T	ENSP00000322731:p.Arg56Cys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_001195382	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	C	15.47	2.843986	0.51164	0.016341	4.65E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.02	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.640810	0.14659	N	0.306078	T	0.33614	0.0869	M	0.79693	2.465	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.991;0.991	T	0.14980	-1.0453	10	0.54805	T	0.06	-20.0686	9.7984	0.40748	0.0:0.6693:0.3307:0.0	.	141;87;56	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	C	56;56;87;56;56	ENSP00000322731:R56C;ENSP00000385140:R56C;ENSP00000415890:R87C;ENSP00000384263:R56C;ENSP00000411788:R56C	ENSP00000322731:R56C	R	+	1	0	GPR35	241218208	0.000000	0.05858	0.235000	0.24058	0.783000	0.44284	-0.829000	0.04415	2.250000	0.74265	0.462000	0.41574	CGC	C|0.993;T|0.007	0.007	strong		0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		T	241569535	C	T	241569535	3	4	22	1	0	0	0	0	1	0	0	0	6690	652	23	1	168	1	GPR35	2	241569535	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	164621	241569535	1629838	1916	7024										
AQP12B	653437	hgsc.bcm.edu	37	chr2	241622008	241622008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgtccaaggtgaccccgtGcgccaggaagagcaggaaga	14	13	0	3	rs187845451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241622008G>A	ENST00000407834.3	-	1	309	c.247C>T	c.(247-249)Cac>Tac	p.H83Y		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	71						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GTGACCCCGTGCGCCAGGAAG	0.672													N|||	54	0.0107827	0.0408	0.0	5008	,	,		18265	0.0		0.0	False		,,,				2504	0.0				p.H83Y		Atlas-SNP	.											AQP12B,colon,carcinoma,+2,1	AQP12B	33	1	0			c.C247T						PASS	.		TYR/HIS	141,4265		1,139,2063	50	51	50		247	2.5	0.5	2		50	0,8598		0,0,4299	no	missense	AQP12B	NM_001102467.1	83	1,139,6362	AA,AG,GG		0.0,3.2002,1.0843	probably-damaging	83/308	241622008	141,12863	2203	4299	6502	SO:0001583	missense	653437	exon1			CCCCGTGCGCCAG	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.247C>T	2.37:g.241622008G>A	ENSP00000384894:p.His83Tyr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	245	98	0.4	NM_001102467	A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	.	13.39	2.223741	0.39300	0.032002	0.0	ENSG00000185176	ENST00000407834	T	0.14516	2.5	2.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	M	0.80982	2.52	0.44547	D	0.997501	D	0.89917	1.0	D	0.87578	0.998	T	0.02053	-1.1222	9	.	.	.	-1.4545	11.1973	0.48719	0.0:0.0:1.0:0.0	.	83	A6NM10-2	.	Y	83	ENSP00000384894:H83Y	.	H	-	1	0	AQP12B	241270681	1.000000	0.71417	0.528000	0.27938	0.035000	0.12851	8.195000	0.89723	1.720000	0.51447	0.479000	0.44913	CAC	G|0.991;A|0.009	0.009	strong		0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			A	241622008	G	A	241622008	3	1	22	1	0	0	0	0	1	0	0	0	825	1319	46	2	688	2	AQP12B	2	241622008	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52473	241622008	1577365	1917	7025										
AQP12A	375318	hgsc.bcm.edu	37	chr2	241631616	241631616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcctcggccaaccccacTgtgtccctgcaggagttcct	12	16	0	0	rs11889147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241631616T>C	ENST00000337801.4	+	2	318	c.249T>C	c.(247-249)acT>acC	p.T83T	AQP12A_ENST00000429564.1_Silent_p.T95T|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	83						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCAACCCCACTGTGTCCCTGC	0.677													N|||	405	0.0808706	0.2073	0.0461	5008	,	,		13202	0.0268		0.0129	False		,,,				2504	0.0603				p.T83T		Atlas-SNP	.											AQP12A,NS,carcinoma,0,1	AQP12A	32	1	0			c.T249C						scavenged	.			436,3770		66,304,1733	35	51	46		249	-5.1	0.2	2	dbSNP_120	46	29,8485		1,27,4229	no	coding-synonymous	AQP12A	NM_198998.1		67,331,5962	CC,CT,TT		0.3406,10.3661,3.6557		83/296	241631616	465,12255	2103	4257	6360	SO:0001819	synonymous_variant	375318	exon2			CCCCACTGTGTCC	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.249T>C	2.37:g.241631616T>C		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	132	62	0.469697	NM_198998		Silent	SNP	ENST00000337801.4	37																																																																																				T|0.958;C|0.042	0.042	strong		0.677	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		C	241631616	T	C	241631616	2	2	22	1	0	0	0	0	0	0	0	1	824	1567	55	3		3	AQP12A	2	241631616	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9608	241631616	1567757	1918	7026										
KIF1A	547	hgsc.bcm.edu	37	chr2	241713646	241713646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgatgtctgcaggactcaAggctgccaccatagctgtcc	11	12	2	1	rs1063353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241713646A>G	ENST00000320389.7	-	12	1149	c.991T>C	c.(991-993)Ttg>Ctg	p.L331L	KIF1A_ENST00000498729.2_Silent_p.L331L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	331	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGACTCAAGGCTGCCACC	0.592													G|||	2572	0.513578	0.7428	0.3631	5008	,	,		13128	0.622		0.3618	False		,,,				2504	0.3548				p.L331L		Atlas-SNP	.											.	KIF1A	152	.	0			c.T991C						PASS	.	G		2789,1501		909,971,265	72	77	75		991	4.3	1	2	dbSNP_86	75	2940,5542		516,1908,1817	no	coding-synonymous	KIF1A	NM_004321.5		1425,2879,2082	GG,GA,AA		34.6616,34.9883,44.8559		331/1691	241713646	5729,7043	2145	4241	6386	SO:0001819	synonymous_variant	547	exon12			GACTCAAGGCTGC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.991T>C	2.37:g.241713646A>G		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	205	105	0.512195	NM_001244008	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	CCDS46561.1	1092	0.5	354	0.7195121951219512	115	0.31767955801104975	349	0.6101398601398601	274	0.36147757255936674	G	5.440	0.266237	0.10294	0.650117	0.346616	ENSG00000130294	ENST00000428768	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	U	0.000002	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.40403	-0.9565	4	.	.	.	.	12.0657	0.53586	0.0862:0.0:0.9138:0.0	rs1063353;rs3204419	.	.	.	P	138	.	.	L	-	2	0	KIF1A	241362319	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	6.463000	0.73530	0.820000	0.34516	-0.374000	0.07098	CTT	A|0.528;G|0.472	0.472	strong		0.592	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		G	241713646	A	G	241713646	2	3	22	1	0	0	0	0	0	0	0	1	8283	69	3	3		3	KIF1A	2	241713646	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82030	241713646	1485727	1919	7027										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241826517	241826517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcctcccagagtcctggtCttctggaagatgctctgcat	10	13	3	2	rs12616061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241826517C>T	ENST00000388934.4	-	5	1472	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	C2orf54_ENST00000402775.2_Silent_p.K270K|C2orf54_ENST00000307486.8_Silent_p.K289K	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	438										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GAGTCCTGGTCTTCTGGAAGA	0.587													C|||	635	0.126797	0.1377	0.1167	5008	,	,		20194	0.3105		0.003	False		,,,				2504	0.0573				p.K438K		Atlas-SNP	.											.	C2orf54	14	.	0			c.G1314A						PASS	.	C	,	434,3532		24,386,1573	86	91	90		1314,810	4.5	1	2	dbSNP_120	90	27,8301		0,27,4137	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	24,413,5710	TT,TC,CC		0.3242,10.943,3.7498	,	438/448,270/280	241826517	461,11833	1983	4164	6147	SO:0001819	synonymous_variant	79919	exon5			CCTGGTCTTCTGG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1314G>A	2.37:g.241826517C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	72	37	0.513889	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			C|0.888;T|0.112	0.112	strong		0.587	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		T	241826517	C	T	241826517	2	4	22	1	0	0	0	0	0	0	0	1	2175	912	32	2		2	C2orf54	2	241826517	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	112871	241826517	1372856	1920	7028										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241828012	241828012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtacacggcgccctgcagTtctgcccagtcctcgggcgc	13	17	1	0	rs6708304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241828012T>C	ENST00000388934.4	-	4	1106	c.948A>G	c.(946-948)gaA>gaG	p.E316E	C2orf54_ENST00000402775.2_Silent_p.E148E|C2orf54_ENST00000307486.8_Silent_p.E167E	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	316										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGCCCTGCAGTTCTGCCCAGT	0.697													C|||	2843	0.567692	0.8192	0.366	5008	,	,		9793	0.5278		0.5219	False		,,,				2504	0.4591				p.E316E		Atlas-SNP	.											C2orf54,colon,carcinoma,0,1	C2orf54	14	1	0			c.A948G						PASS	.	C	,	3233,979		1276,681,149	10	14	13		948,444	1.1	0.9	2	dbSNP_116	13	4211,4237		1104,2003,1117	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	2380,2684,1266	CC,CT,TT		49.8461,23.2431,41.2006	,	316/448,148/280	241828012	7444,5216	2106	4224	6330	SO:0001819	synonymous_variant	79919	exon4			CTGCAGTTCTGCC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.948A>G	2.37:g.241828012T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			T|0.464;C|0.536	0.536	strong		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		C	241828012	T	C	241828012	2	2	22	1	0	0	0	0	0	0	0	1	2175	1722	60	2		2	C2orf54	2	241828012	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1495	241828012	1371361	1921	7029										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241830969	241830969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctacctccagagctgggcGctggccggcaccaggtccac	13	17	0	1	rs10171067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241830969G>A	ENST00000388934.4	-	2	884	c.726C>T	c.(724-726)agC>agT	p.S242S	C2orf54_ENST00000307486.8_Silent_p.S93S|C2orf54_ENST00000402775.2_Silent_p.S74S	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	242										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGAGCTGGGCGCTGGCCGGCA	0.692													G|||	2640	0.527157	0.7799	0.3473	5008	,	,		17745	0.4415		0.5179	False		,,,				2504	0.411				p.S242S		Atlas-SNP	.											.	C2orf54	14	.	0			c.C726T						PASS	.	G	,	2960,1022		1120,720,151	46	54	51		726,222	-2.7	0	2	dbSNP_119	51	4114,4174		1043,2028,1073	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	2163,2748,1224	AA,AG,GG		49.638,25.6655,42.3472	,	242/448,74/280	241830969	7074,5196	1991	4144	6135	SO:0001819	synonymous_variant	79919	exon2			CTGGGCGCTGGCC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.726C>T	2.37:g.241830969G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	91	46	0.505495	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			G|0.490;A|0.510	0.510	strong		0.692	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		A	241830969	G	A	241830969	2	1	22	1	0	0	0	0	0	0	0	1	2175	1078	38	1		1	C2orf54	2	241830969	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2957	241830969	1368404	1922	7030										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241831005	241831005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccccttggctgaggatCcttctcaagctgccctcagg	9	16	2	1	rs10195453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241831005C>T	ENST00000388934.4	-	2	848	c.690G>A	c.(688-690)agG>agA	p.R230R	C2orf54_ENST00000307486.8_Silent_p.R81R|C2orf54_ENST00000402775.2_Silent_p.R62R	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	230										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGCTGAGGATCCTTCTCAAGC	0.667													C|||	2637	0.526558	0.7784	0.3473	5008	,	,		18639	0.4405		0.5179	False		,,,				2504	0.411				p.R230R		Atlas-SNP	.											.	C2orf54	14	.	0			c.G690A						PASS	.	C	,	2972,1046		1107,758,144	49	58	55		690,186	0.1	0	2	dbSNP_119	55	4121,4201		1036,2049,1076	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	2143,2807,1220	TT,TC,CC		49.5193,26.0329,42.5203	,	230/448,62/280	241831005	7093,5247	2009	4161	6170	SO:0001819	synonymous_variant	79919	exon2			GAGGATCCTTCTC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.690G>A	2.37:g.241831005C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	77	44	0.571429	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			C|0.497;T|0.503	0.503	strong		0.667	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		T	241831005	C	T	241831005	2	4	22	1	0	0	0	0	0	0	0	1	2175	854	30	2		2	C2orf54	2	241831005	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	241831005	1368368	1923	7031										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241834944	241834944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagtgtacgatggctgcTaccagcaggtccttgaggac	13	10	0	1	rs4468809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241834944T>C	ENST00000388934.4	-	1	629	c.471A>G	c.(469-471)gtA>gtG	p.V157V		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	157										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGATGGCTGCTACCAGCAGGT	0.607													C|||	2640	0.527157	0.7806	0.3473	5008	,	,		23599	0.4405		0.5179	False		,,,				2504	0.411				p.V157V		Atlas-SNP	.											.	C2orf54	14	.	0			c.A471G						PASS	.	C		3201,1197		1185,831,183	21	24	23		471	3.5	1	2	dbSNP_111	23	4222,4364		1072,2078,1143	no	coding-synonymous	C2orf54	NM_001085437.1		2257,2909,1326	CC,CT,TT		49.1731,27.2169,42.8296		157/448	241834944	7423,5561	2199	4293	6492	SO:0001819	synonymous_variant	79919	exon1			GGCTGCTACCAGC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.471A>G	2.37:g.241834944T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	139	59	0.42446	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			T|0.497;C|0.503	0.503	strong		0.607	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		C	241834944	T	C	241834944	2	2	22	1	0	0	0	0	0	0	0	1	2175	1509	53	3		3	C2orf54	2	241834944	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3939	241834944	1364429	1924	7032										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241835110	241835110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataattcaaggccatcctccGgctgggtggcctctggttcc	11	13	2	0	rs146162100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241835110G>A	ENST00000388934.4	-	1	463	c.305C>T	c.(304-306)cCg>cTg	p.P102L		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	102										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCATCCTCCGGCTGGGTGGC	0.637													G|||	47	0.00938498	0.0348	0.0	5008	,	,		21036	0.0		0.0	False		,,,				2504	0.001				p.P102L		Atlas-SNP	.											.	C2orf54	14	.	0			c.C305T						PASS	.	G	LEU/PRO	108,3930		1,106,1912	39	43	42		305	2	0	2	dbSNP_134	42	0,8320		0,0,4160	yes	missense	C2orf54	NM_001085437.1	98	1,106,6072	AA,AG,GG		0.0,2.6746,0.8739	benign	102/448	241835110	108,12250	2019	4160	6179	SO:0001583	missense	79919	exon1			TCCTCCGGCTGGG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.305C>T	2.37:g.241835110G>A	ENSP00000373586:p.Pro102Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	142	68	0.478873	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	21	0.009615384615384616	21	0.042682926829268296	0	0.0	0	0.0	0	0.0	G	4.191	0.034120	0.08101	0.026746	0.0	ENSG00000172478	ENST00000388934;ENST00000414499;ENST00000454476	T;T;T	0.11495	2.77;2.77;2.77	4.87	2.03	0.26663	.	0.889113	0.09556	N	0.786255	T	0.01730	0.0055	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.40021	-0.9585	10	0.27082	T	0.32	4.8878	4.8735	0.13644	0.2407:0.0:0.558:0.2014	.	102	Q08AI8	CB054_HUMAN	L	102;102;92	ENSP00000373586:P102L;ENSP00000390935:P102L;ENSP00000394874:P92L	ENSP00000373586:P102L	P	-	2	0	C2orf54	241483783	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.397000	0.07269	0.474000	0.27392	0.561000	0.74099	CCG	G|0.990;A|0.010	0.010	strong		0.637	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		A	241835110	G	A	241835110	3	1	22	1	0	0	0	0	1	0	0	0	2175	1116	39	1	1072	1	C2orf54	2	241835110	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	166	241835110	1364263	1925	7033										
C2orf54	79919	hgsc.bcm.edu	37	chr2	241835379	241835379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacaggggcacctgcacGgccatggctgaggtggggag	18	11	0	1	rs12105122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241835379G>A	ENST00000388934.4	-	1	194	c.36C>T	c.(34-36)gcC>gcT	p.A12A		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	12										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCACCTGCACGGCCATGGCTG	0.697													G|||	2624	0.523962	0.7685	0.3487	5008	,	,		17050	0.4415		0.5159	False		,,,				2504	0.411				p.A12A		Atlas-SNP	.											C2orf54,rectum,carcinoma,0,1	C2orf54	14	1	0			c.C36T						PASS	.	G		2920,1058		1120,680,189	5	6	6		36	-10.5	0	2	dbSNP_120	6	4133,4053		1141,1851,1101	no	coding-synonymous	C2orf54	NM_001085437.1		2261,2531,1290	AA,AG,GG		49.5114,26.5963,42.0174		12/448	241835379	7053,5111	1989	4093	6082	SO:0001819	synonymous_variant	79919	exon1			CTGCACGGCCATG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.36C>T	2.37:g.241835379G>A		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	37	25	0.675676	NM_001085437	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			G|0.494;A|0.506	0.506	strong		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		A	241835379	G	A	241835379	2	1	22	1	0	0	0	0	0	0	0	1	2175	1103	39	1		1	C2orf54	2	241835379	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	269	241835379	1363994	1926	7034										
SNED1	25992	hgsc.bcm.edu	37	chr2	241973223	241973223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcaactatgagtccatCgtgtggaccacaggcacaca	8	12	2	1	rs61746865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241973223C>T	ENST00000310397.8	+	3	573	c.573C>T	c.(571-573)atC>atT	p.I191I	SNED1_ENST00000342631.6_Silent_p.I191I|SNED1_ENST00000401884.1_Silent_p.I191I|SNED1_ENST00000405547.3_Silent_p.I191I|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	191	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ATGAGTCCATCGTGTGGACCA	0.622													C|||	480	0.0958466	0.2231	0.0245	5008	,	,		19626	0.0754		0.0159	False		,,,				2504	0.0777				p.I191I		Atlas-SNP	.											.	SNED1	76	.	0			c.C573T						PASS	.	C		772,3510		76,620,1445	60	64	63		573	3.7	0.7	2	dbSNP_129	63	93,8353		1,91,4131	no	coding-synonymous	SNED1	NM_001080437.1		77,711,5576	TT,TC,CC		1.1011,18.029,6.796		191/1414	241973223	865,11863	2141	4223	6364	SO:0001819	synonymous_variant	25992	exon3			GTCCATCGTGTGG	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.573C>T	2.37:g.241973223C>T		Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	332	165	0.496988	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																			C|0.940;T|0.060	0.060	strong		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	241973223	C	T	241973223	2	4	22	1	0	0	0	0	0	0	0	1	14845	874	31	1		1	SNED1	2	241973223	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	137844	241973223	1226150	1927	7035										
SNED1	25992	hgsc.bcm.edu	37	chr2	241979550	241979550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccagtgccaggtggagaaTggctctgcggtgtgtgtgtg	19	7	1	1	rs7571117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241979550T>C	ENST00000310397.8	+	7	1104	c.1104T>C	c.(1102-1104)aaT>aaC	p.N368N	SNED1_ENST00000405547.3_Silent_p.N368N|SNED1_ENST00000401884.1_Silent_p.N368N|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.N368N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	368	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like 1.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGTGGAGAATGGCTCTGCGG	0.612													C|||	2241	0.447484	0.6059	0.3473	5008	,	,		19799	0.3214		0.4602	False		,,,				2504	0.4213				p.N368N		Atlas-SNP	.											.	SNED1	76	.	0			c.T1104C						PASS	.	C		2626,1640		827,972,334	32	39	37		1104	-4.8	0	2	dbSNP_116	37	4146,4356		1043,2060,1148	no	coding-synonymous	SNED1	NM_001080437.1		1870,3032,1482	CC,CT,TT		48.765,38.4435,46.9612		368/1414	241979550	6772,5996	2133	4251	6384	SO:0001819	synonymous_variant	25992	exon7			GGAGAATGGCTCT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1104T>C	2.37:g.241979550T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	104	57	0.548077	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	954|954	0.4368131868131868|0.4368131868131868	291|291	0.5914634146341463|0.5914634146341463	130|130	0.35911602209944754|0.35911602209944754	189|189	0.3304195804195804|0.3304195804195804	344|344	0.45382585751978893|0.45382585751978893	C|C	0.088|0.088	-1.172244|-1.172244	0.01646|0.01646	0.615565|0.615565	0.48765|0.48765	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	4.73|4.73	-4.77|-4.77	0.03219|0.03219	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43686|0.43686	-0.9376|-0.9376	3|3	.|.	.|.	.|.	.|.	2.7388|2.7388	0.05247|0.05247	0.1001:0.2577:0.1972:0.445|0.1001:0.2577:0.1972:0.445	rs7571117;rs61028234;rs7571117|rs7571117;rs61028234;rs7571117	.|.	.|.	.|.	T|R	26|65	.|.	.|.	M|W	+|+	2|1	0|0	SNED1|SNED1	241628223|241628223	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.799000|-1.799000	0.01746|0.01746	-1.361000|-1.361000	0.02169|0.02169	-0.972000|-0.972000	0.02603|0.02603	ATG|TGG	T|0.554;C|0.446	0.446	strong		0.612	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	241979550	T	C	241979550	2	2	22	1	0	0	0	0	0	0	0	1	14845	1461	51	2		2	SNED1	2	241979550	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6327	241979550	1219823	1928	7036										
SNED1	25992	hgsc.bcm.edu	37	chr2	241991875	241991875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagggtacatgggacgccgGtgccaggcaggtgagagggt	20	8	0	1	rs57214830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:241991875G>A	ENST00000310397.8	+	15	2073	c.2073G>A	c.(2071-2073)cgG>cgA	p.R691R	SNED1_ENST00000342631.6_Silent_p.R691R|SNED1_ENST00000401884.1_Silent_p.R691R|SNED1_ENST00000405547.3_Silent_p.R691R|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	691	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGGACGCCGGTGCCAGGCAG	0.637													G|||	1286	0.256789	0.2126	0.245	5008	,	,		17592	0.4067		0.1928	False		,,,				2504	0.2362				p.R691R		Atlas-SNP	.											.	SNED1	76	.	0			c.G2073A						PASS	.	G		800,3316		93,614,1351	43	49	47		2073	2.2	1	2	dbSNP_129	47	1433,6939		134,1165,2887	yes	coding-synonymous	SNED1	NM_001080437.1		227,1779,4238	AA,AG,GG		17.1166,19.4363,17.8812		691/1414	241991875	2233,10255	2058	4186	6244	SO:0001819	synonymous_variant	25992	exon15			ACGCCGGTGCCAG	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2073G>A	2.37:g.241991875G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	101	52	0.514852	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																			G|0.756;A|0.244	0.244	strong		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		A	241991875	G	A	241991875	2	1	22	1	0	0	0	0	0	0	0	1	14845	1248	44	2		2	SNED1	2	241991875	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12325	241991875	1207498	1929	7037										
SNED1	25992	hgsc.bcm.edu	37	chr2	242003487	242003487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccggtgtgagagcggcggCggggcctacctgtgcgtctg	20	11	1	1	rs17852471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242003487C>T	ENST00000310397.8	+	19	2544	c.2544C>T	c.(2542-2544)ggC>ggT	p.G848G	SNED1_ENST00000342631.6_Silent_p.G848G|SNED1_ENST00000401884.1_Silent_p.G848G|SNED1_ENST00000405547.3_Silent_p.G848G|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	848	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGAGCGGCGGCGGGGCCTACC	0.697													C|||	1282	0.25599	0.2179	0.2478	5008	,	,		9290	0.4048		0.1829	False		,,,				2504	0.2352				p.G848G		Atlas-SNP	.											.	SNED1	76	.	0			c.C2544T						PASS	.	C		642,3114		71,500,1307	8	12	11		2544	-4.5	0.7	2	dbSNP_123	11	1180,6876		101,978,2949	no	coding-synonymous	SNED1	NM_001080437.1		172,1478,4256	TT,TC,CC		14.6475,17.0927,15.425		848/1414	242003487	1822,9990	1878	4028	5906	SO:0001819	synonymous_variant	25992	exon19			CGGCGGCGGGGCC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2544C>T	2.37:g.242003487C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	162	78	0.481481	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																			C|0.733;T|0.267	0.267	strong		0.697	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	242003487	C	T	242003487	2	4	22	1	0	0	0	0	0	0	0	1	14845	755	27	1		1	SNED1	2	242003487	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11612	242003487	1195886	1930	7038										
SNED1	25992	hgsc.bcm.edu	37	chr2	242004866	242004866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacggctcctaccgccgcacAgactttgtggacaggacccg	12	15	0	1	rs2286321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242004866A>G	ENST00000310397.8	+	21	2865	c.2865A>G	c.(2863-2865)acA>acG	p.T955T	SNED1_ENST00000342631.6_Silent_p.T955T|SNED1_ENST00000401884.1_Silent_p.T955T|SNED1_ENST00000405547.3_Silent_p.T955T|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	955	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCGCCGCACAGACTTTGTGG	0.622													G|||	1910	0.38139	0.6596	0.2795	5008	,	,		16152	0.4097		0.2008	False		,,,				2504	0.2342				p.T955T		Atlas-SNP	.											.	SNED1	76	.	0			c.A2865G						PASS	.	G		2180,1854		610,960,447	46	58	54		2865	-9.6	0.1	2	dbSNP_100	54	1446,6904		135,1176,2864	no	coding-synonymous	SNED1	NM_001080437.1		745,2136,3311	GG,GA,AA		17.3174,45.9593,29.2797		955/1414	242004866	3626,8758	2017	4175	6192	SO:0001819	synonymous_variant	25992	exon21			CCGCACAGACTTT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2865A>G	2.37:g.242004866A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	101	52	0.514852	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																			A|0.630;G|0.370	0.370	strong		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		G	242004866	A	G	242004866	2	3	22	1	0	0	0	0	0	0	0	1	14845	175	7	3		3	SNED1	2	242004866	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1379	242004866	1194507	1931	7039										
SNED1	25992	hgsc.bcm.edu	37	chr2	242012729	242012729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaggaagcccccaagcGggtcagcctggccctccagc	13	16	1	0	rs6721345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242012729G>A	ENST00000310397.8	+	27	3866	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q	SNED1_ENST00000342631.6_Intron|SNED1_ENST00000401884.1_Missense_Mutation_p.R1289Q|SNED1_ENST00000405547.3_Intron|MTERFD2_ENST00000464344.2_5'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1289			R -> Q (in dbSNP:rs6721345).		cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCCCCCAAGCGGGTCAGCCTG	0.637													A|||	170	0.0339457	0.1218	0.013	5008	,	,		18018	0.0		0.0	False		,,,				2504	0.0				p.R1289Q		Atlas-SNP	.											.	SNED1	76	.	0			c.G3866A						PASS	.	A	GLN/ARG	389,3689		21,347,1671	23	30	27		3866	-1.4	0	2	dbSNP_116	27	1,8307		0,1,4153	yes	missense	SNED1	NM_001080437.1	43	21,348,5824	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	0.012,9.539,3.1487	benign	1289/1414	242012729	390,11996	2039	4154	6193	SO:0001583	missense	25992	exon27			CCAAGCGGGTCAG	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3866G>A	2.37:g.242012729G>A	ENSP00000308893:p.Arg1289Gln	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	161	72	0.447205	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	55	0.025183150183150184	50	0.1016260162601626	5	0.013812154696132596	0	0.0	0	0.0	A	1.776	-0.483082	0.04383	0.09539	1.2E-4	ENSG00000162804	ENST00000401884;ENST00000310397	D;D	0.82433	-1.61;-1.58	4.46	-1.35	0.09114	.	0.544077	0.15478	N	0.260251	T	0.01627	0.0052	N	0.00583	-1.355	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.06405	0.002;0.001	T	0.20207	-1.0282	10	0.10111	T	0.7	.	6.6262	0.22830	0.1901:0.5219:0.288:0.0	rs6721345;rs6721345	1289;1289	Q8TER0-5;Q8TER0	.;SNED1_HUMAN	Q	1289	ENSP00000384871:R1289Q;ENSP00000308893:R1289Q	ENSP00000308893:R1289Q	R	+	2	0	SNED1	241661402	0.000000	0.05858	0.018000	0.16275	0.715000	0.41141	0.261000	0.18442	-0.370000	0.08016	-0.381000	0.06696	CGG	G|0.966;A|0.034	0.034	strong		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		A	242012729	G	A	242012729	3	1	22	1	0	0	0	0	1	0	0	0	14845	1116	39	1	3972	1	SNED1	2	242012729	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7863	242012729	1186644	1932	7040										
SNED1	25992	hgsc.bcm.edu	37	chr2	242021742	242021742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgttctccgagacaaagGcctttccagtctgggaggga	14	10	2	1	rs2108485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242021742G>T	ENST00000310397.8	+	29	4084	c.4084G>T	c.(4084-4086)Gcc>Tcc	p.A1362S	SNED1_ENST00000342631.6_Missense_Mutation_p.A1329S|SNED1_ENST00000405547.3_Missense_Mutation_p.A1329S|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1362			A -> S (in dbSNP:rs2108485). {ECO:0000269|PubMed:15489334}.		cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGACAAAGGCCTTTCCAGT	0.572													T|||	2132	0.425719	0.7511	0.3545	5008	,	,		18972	0.5546		0.168	False		,,,				2504	0.1687				p.A1362S		Atlas-SNP	.											.	SNED1	76	.	0			c.G4084T						PASS	.	T	SER/ALA	2626,1462		858,910,276	203	220	215		4084	3.3	0.8	2	dbSNP_96	215	1345,7043		100,1145,2949	yes	missense	SNED1	NM_001080437.1	99	958,2055,3225	TT,TG,GG		16.0348,35.7632,31.8291	benign	1362/1414	242021742	3971,8505	2044	4194	6238	SO:0001583	missense	25992	exon29			ACAAAGGCCTTTC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4084G>T	2.37:g.242021742G>T	ENSP00000308893:p.Ala1362Ser	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	117	115	0.982906	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	919	0.4207875457875458	357	0.725609756097561	118	0.3259668508287293	321	0.5611888111888111	123	0.16226912928759896	T	1.878	-0.458563	0.04508	0.642368	0.160348	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	T;D;T	0.81739	-1.41;-1.53;-1.4	4.48	3.31	0.37934	.	0.172481	0.27768	N	0.017929	T	0.00012	0.0000	N	0.01493	-0.835	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.46162	-0.9211	9	0.02654	T	1	.	9.5049	0.39040	0.0:0.0:0.3742:0.6258	rs2108485;rs17856779;rs52791508;rs57854954;rs2108485	1329;1362	B5MEF5;Q8TER0	.;SNED1_HUMAN	S	1329;1362;1329	ENSP00000386007:A1329S;ENSP00000308893:A1362S;ENSP00000342992:A1329S	ENSP00000308893:A1362S	A	+	1	0	SNED1	241670415	0.999000	0.42202	0.796000	0.32109	0.768000	0.43524	1.115000	0.31209	0.137000	0.18759	-0.525000	0.04345	GCC	G|0.576;T|0.424	0.424	strong		0.572	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	242021742	G	T	242021742	3	4	22	1	0	0	0	0	1	0	0	0	14845	1203	42	4	4198	4	SNED1	2	242021742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9013	242021742	1177631	1933	7041										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242035516	242035518	+	In_Frame_Del	DEL	TCA	TCA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctcatcattgtcctccTcatcatcgtcatcctcatcc					rs142629642|rs10203977		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242035516_242035518delTCA	ENST00000391980.2	-	4	1099_1101	c.1041_1043delTGA	c.(1039-1044)gatgag>gag	p.D347del	MTERFD2_ENST00000406593.1_In_Frame_Del_p.D159del|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		347			D -> E (in dbSNP:rs10203977).		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)		attgtcctcctcatcatcgtcat	0.512																																					p.348_348del		Pindel,Atlas-Indel	.											.	MTERFD2	33	.	0			c.1042_1044del						PASS	.			252,4010		8,236,1887						0.5	0		dbSNP_130	242	5,8249		0,5,4122	no	coding	MTERFD2	NM_182501.3		8,241,6009	A1A1,A1R,RR		0.0606,5.9127,2.0534				257,12259				SO:0001651	inframe_deletion	130916	exon4			.																												ENST00000391980.2:c.1041_1043delTGA	2.37:g.242035519_242035521delTCA	ENSP00000375840:p.Asp347del	Somatic	219	.	.		WXS	Illumina HiSeq	Phase_I	224	44	0.196	NM_182501	A8K6K0|Q9P0E0	In_Frame_Del	DEL	ENST00000391980.2	37	CCDS2544.1																																																																																			.	.	strong		0.512	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			-	242035518	TCA	-	242035516	7	5	22	1	0	1	0	1	0	0	0	0	9920	1551	54	0	106	0	MTERFD2	2	242035516	In_Frame_Del	DEL	TCA	TCGA-G8-6324-01A-11D-2210-10	13774	242035516	1163857	1934	7042										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242035544	242035544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatcctcatcctcatccaGacttgcccttttgtcatcag	5	15	5	1	rs2240539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242035544G>C	ENST00000391980.2	-	4	1073	c.1015C>G	c.(1015-1017)Ctg>Gtg	p.L339V	MTERFD2_ENST00000406593.1_Missense_Mutation_p.L151V|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		339			L -> V (in dbSNP:rs2240539).		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)		tcctcatcCAGACTTGCCCTT	0.498													G|||	523	0.104433	0.1762	0.0951	5008	,	,		21954	0.124		0.0626	False		,,,				2504	0.0368				p.L339V		Atlas-SNP	.											.	MTERFD2	33	.	0			c.C1015G						PASS	.	G	VAL/LEU	813,3593	325.9+/-299.3	83,647,1473	267	186	213		1015	-3.8	0	2	dbSNP_98	213	589,8011	156.9+/-210.6	21,547,3732	yes	missense	MTERFD2	NM_182501.3	32	104,1194,5205	CC,CG,GG		6.8488,18.4521,10.7796	benign	339/382	242035544	1402,11604	2203	4300	6503	SO:0001583	missense	130916	exon4			CATCCAGACTTGC																												ENST00000391980.2:c.1015C>G	2.37:g.242035544G>C	ENSP00000375840:p.Leu339Val	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	232	125	0.538793	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	242	0.1108058608058608	90	0.18292682926829268	35	0.09668508287292818	70	0.12237762237762238	47	0.06200527704485488	G	11.69	1.714390	0.30413	0.184521	0.068488	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.05649	3.41;3.41	3.71	-3.84	0.04256	.	2.125570	0.02588	N	0.099626	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.11235	0.004	B	0.08055	0.003	T	0.43814	-0.9368	9	0.42905	T	0.14	-1.5584	1.5814	0.02635	0.1427:0.3269:0.1599:0.3705	rs2240539;rs52817647;rs2240539	339	Q7Z6M4	MTER2_HUMAN	V	339;151	ENSP00000375840:L339V;ENSP00000384998:L151V	ENSP00000241527:L339V	L	-	1	2	MTERFD2	241684217	0.557000	0.26546	0.000000	0.03702	0.075000	0.17131	-0.466000	0.06672	-0.827000	0.04278	0.460000	0.39030	CTG	G|0.889;C|0.111	0.111	strong		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			C	242035544	G	C	242035544	3	2	22	1	0	0	0	0	1	0	0	0	9920	933	33	4	134	4	MTERFD2	2	242035544	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28	242035544	1163829	1935	7043										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242036769	242036769	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttctccttgagaagcctGacagtgtcgttaatgtcctg	9	11	1	2	rs10171090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242036769G>A	ENST00000391980.2	-	3	652	c.594C>T	c.(592-594)gtC>gtT	p.V198V	MTERFD2_ENST00000406593.1_Silent_p.V10V|MTERFD2_ENST00000407095.3_Silent_p.V198V|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		198					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)		TGAGAAGCCTGACAGTGTCGT	0.473													G|||	111	0.0221645	0.0772	0.013	5008	,	,		21463	0.0		0.0	False		,,,				2504	0.0				p.V198V		Atlas-SNP	.											.	MTERFD2	33	.	0			c.C594T						PASS	.	G		262,4144	148.8+/-183.1	9,244,1950	101	87	92		594	-1.5	0	2	dbSNP_119	92	0,8600		0,0,4300	no	coding-synonymous	MTERFD2	NM_182501.3		9,244,6250	AA,AG,GG		0.0,5.9464,2.0145		198/382	242036769	262,12744	2203	4300	6503	SO:0001819	synonymous_variant	130916	exon3			AAGCCTGACAGTG																												ENST00000391980.2:c.594C>T	2.37:g.242036769G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	118	52	0.440678	NM_182501	A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	CCDS2544.1																																																																																			G|0.978;A|0.022	0.022	strong		0.473	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			A	242036769	G	A	242036769	2	1	22	1	0	0	0	0	0	0	0	1	9920	1277	45	2		2	MTERFD2	2	242036769	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1225	242036769	1162604	1936	7044										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242036797	242036797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttaatgtcctgctggcgcAtggtgaaaatttcagggcaa	12	8	1	1	rs2286323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242036797A>G	ENST00000391980.2	-	3	624	c.566T>C	c.(565-567)aTg>aCg	p.M189T	MTERFD2_ENST00000407095.3_Missense_Mutation_p.M189T|MTERFD2_ENST00000406593.1_Start_Codon_SNP_p.M1T|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		189			M -> T (in dbSNP:rs2286323).		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)		CTGCTGGCGCATGGTGAAAAT	0.443													A|||	555	0.110823	0.0855	0.0836	5008	,	,		21765	0.2073		0.0964	False		,,,				2504	0.0798				p.M189T		Atlas-SNP	.											.	MTERFD2	33	.	0			c.T566C						PASS	.	A	THR/MET	376,4030	189.9+/-215.9	18,340,1845	102	92	95		566	4.9	1	2	dbSNP_100	95	726,7874	177.3+/-227.0	23,680,3597	yes	missense	MTERFD2	NM_182501.3	81	41,1020,5442	GG,GA,AA		8.4419,8.5338,8.473	probably-damaging	189/382	242036797	1102,11904	2203	4300	6503	SO:0001583	missense	130916	exon3			TGGCGCATGGTGA																												ENST00000391980.2:c.566T>C	2.37:g.242036797A>G	ENSP00000375840:p.Met189Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	271	0.12408424908424909	45	0.09146341463414634	28	0.07734806629834254	127	0.22202797202797203	71	0.09366754617414248	A	16.12	3.032414	0.54790	0.085338	0.084419	ENSG00000122085	ENST00000414146;ENST00000391980;ENST00000406593;ENST00000439144;ENST00000424798;ENST00000407095	T;T;T;T;T;T	0.16743	2.77;2.87;2.32;2.87;2.87;2.87	4.91	4.91	0.64330	.	0.135789	0.49305	D	0.000151	T	0.00039	0.0001	M	0.72118	2.19	0.26979	P	0.9654062	D;D	0.57257	0.979;0.979	P;P	0.60236	0.871;0.76	T	0.17228	-1.0376	9	0.23891	T	0.37	-20.7559	14.2242	0.65848	1.0:0.0:0.0:0.0	rs2286323;rs61153316;rs2286323	189;189	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	T	26;189;1;42;182;189	ENSP00000401409:M26T;ENSP00000375840:M189T;ENSP00000384998:M1T;ENSP00000414989:M42T;ENSP00000409023:M182T;ENSP00000385630:M189T	ENSP00000241527:M189T	M	-	2	0	MTERFD2	241685470	1.000000	0.71417	0.996000	0.52242	0.216000	0.24613	4.145000	0.58065	1.837000	0.53436	0.383000	0.25322	ATG	A|0.894;G|0.106	0.106	strong		0.443	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			G	242036797	A	G	242036797	3	3	22	1	0	0	0	0	1	0	0	0	9920	217	8	2	587	2	MTERFD2	2	242036797	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	28	242036797	1162576	1937	7045										
MTERFD2	130916	hgsc.bcm.edu	37	chr2	242039198	242039198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccctccattggaggctgTagtcagtttgcgcaacaaag	11	11	1	0	rs3796093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242039198T>C	ENST00000391980.2	-	2	191	c.133A>G	c.(133-135)Aca>Gca	p.T45A	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.T45A|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.T45A	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		45			T -> A (in dbSNP:rs3796093).		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)		TTGGAGGCTGTAGTCAGTTTG	0.517													T|||	471	0.0940495	0.1369	0.0951	5008	,	,		20220	0.124		0.0626	False		,,,				2504	0.0368				p.T45A		Atlas-SNP	.											.	MTERFD2	33	.	0			c.A133G						PASS	.	T	ALA/THR	625,3781	271.6+/-270.3	51,523,1629	69	69	69		133	0.6	0	2	dbSNP_107	69	585,8015	156.4+/-210.3	21,543,3736	yes	missense	MTERFD2	NM_182501.3	58	72,1066,5365	CC,CT,TT		6.8023,14.1852,9.3034	benign	45/382	242039198	1210,11796	2203	4300	6503	SO:0001583	missense	130916	exon2			AGGCTGTAGTCAG																												ENST00000391980.2:c.133A>G	2.37:g.242039198T>C	ENSP00000375840:p.Thr45Ala	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	130	51	0.392308	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	227	0.10393772893772894	75	0.1524390243902439	35	0.09668508287292818	70	0.12237762237762238	47	0.06200527704485488	T	20.3	3.965965	0.74131	0.141852	0.068023	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.60797	0.16;0.21;1.94;0.91;0.93;0.32	4.57	0.636	0.17729	.	0.480627	0.17001	N	0.190890	T	0.00241	0.0007	L	0.36672	1.1	0.80722	P	0.0	B;B	0.21452	0.036;0.056	B;B	0.15870	0.012;0.014	T	0.03483	-1.1032	9	0.46703	T	0.11	-22.0028	4.1038	0.10026	0.0:0.2002:0.1768:0.623	rs3796093;rs52805218;rs60253284;rs3796093	45;45	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	A	45;45;45;38;45;24	ENSP00000419315:T45A;ENSP00000385183:T45A;ENSP00000375840:T45A;ENSP00000409023:T38A;ENSP00000385630:T45A;ENSP00000393063:T24A	ENSP00000241527:T45A	T	-	1	0	MTERFD2	241687871	0.001000	0.12720	0.002000	0.10522	0.721000	0.41392	0.055000	0.14229	0.142000	0.18901	0.482000	0.46254	ACA	T|0.899;C|0.101	0.101	strong		0.517	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			C	242039198	T	C	242039198	3	2	22	1	0	0	0	0	1	0	0	0	9920	1638	57	2	1024	2	MTERFD2	2	242039198	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2401	242039198	1160175	1938	7046										
PASK	23178	hgsc.bcm.edu	37	chr2	242046785	242046785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctggcttgtttactcgaAacacctcttcccatgtatag	6	13	1	0	rs1131293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242046785A>C	ENST00000405260.1	-	17	4495	c.3797T>G	c.(3796-3798)tTt>tGt	p.F1266C	PASK_ENST00000234040.4_Missense_Mutation_p.F1266C|PASK_ENST00000539818.1_Missense_Mutation_p.F1050C|PASK_ENST00000544142.1_Missense_Mutation_p.F1080C|PASK_ENST00000358649.4_Missense_Mutation_p.F1273C|PASK_ENST00000475666.1_5'Flank	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1266			F -> C (in dbSNP:rs1131293). {ECO:0000269|PubMed:11459942, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8590280}.		negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTTTACTCGAAACACCTCTTC	0.542													C|||	1617	0.322883	0.5802	0.2594	5008	,	,		20031	0.4286		0.1064	False		,,,				2504	0.1339				p.F1273C		Atlas-SNP	.											.	PASK	230	.	0			c.T3818G						PASS	.	C	CYS/PHE	2171,2235	592.5+/-387.8	557,1057,589	168	155	159		3797	3.2	1	2	dbSNP_86	159	836,7764	781.4+/-407.6	38,760,3502	yes	missense	PASK	NM_015148.2	205	595,1817,4091	CC,CA,AA		9.7209,49.2737,23.1201	benign	1266/1324	242046785	3007,9999	2203	4300	6503	SO:0001583	missense	23178	exon17			ACTCGAAACACCT	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3797T>G	2.37:g.242046785A>C	ENSP00000384016:p.Phe1266Cys	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	152	76	0.5	NM_001252119	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	683	0.31272893772893773	274	0.556910569105691	84	0.23204419889502761	248	0.43356643356643354	77	0.10158311345646438	C	0.513	-0.865544	0.02590	0.492737	0.097209	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.41758	1.84;1.84;1.84;0.99;1.84	5.05	3.23	0.37069	Protein kinase-like domain (1);	0.219452	0.32386	N	0.006176	T	0.00012	0.0000	N	0.00230	-1.795	0.58432	P	9.000000000036756E-6	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	0.44982	-0.9292	9	0.13853	T	0.58	.	3.9373	0.09311	0.3446:0.3793:0.0:0.2761	rs1131293;rs3191065;rs6761641;rs52811271;rs61332862;rs1131293	1231;1080;1273;1266	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1266;1080;1266;1273;1050	ENSP00000234040:F1266C;ENSP00000441374:F1080C;ENSP00000384016:F1266C;ENSP00000351475:F1273C;ENSP00000443083:F1050C	ENSP00000234040:F1266C	F	-	2	0	PASK	241695458	0.009000	0.17119	0.967000	0.41034	0.732000	0.41865	0.018000	0.13422	0.551000	0.29008	-0.121000	0.15023	TTT	C|0.280;N|0.000	0.280	strong		0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		C	242046785	A	C	242046785	3	2	22	1	0	0	0	0	1	0	0	0	11472	14	1	5	182	5	PASK	2	242046785	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7587	242046785	1152588	1939	7047										
PASK	23178	hgsc.bcm.edu	37	chr2	242051777	242051777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgattgtgaagtcctcGgcgatcacgatgttctcatc	10	10	2	2	rs2074824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242051777G>A	ENST00000405260.1	-	15	4109	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A	PASK_ENST00000234040.4_Silent_p.A1137A|PASK_ENST00000539818.1_Silent_p.A921A|PASK_ENST00000544142.1_Silent_p.A951A|PASK_ENST00000358649.4_Silent_p.A1144A|PASK_ENST00000475666.1_5'UTR	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGAAGTCCTCGGCGATCACGA	0.502													G|||	1617	0.322883	0.5802	0.2594	5008	,	,		17008	0.4286		0.1064	False		,,,				2504	0.1339				p.A1144A		Atlas-SNP	.											.	PASK	230	.	0			c.C3432T						PASS	.	G		2172,2234	584.5+/-386.0	558,1056,589	80	72	75		3411	-11.8	0	2	dbSNP_96	75	837,7763	192.0+/-238.1	38,761,3501	no	coding-synonymous	PASK	NM_015148.2		596,1817,4090	AA,AG,GG		9.7326,49.2964,23.1355		1137/1324	242051777	3009,9997	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon15			GTCCTCGGCGATC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3411C>T	2.37:g.242051777G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	116	64	0.551724	NM_001252119	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			G|0.727;A|0.273	0.273	strong		0.502	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242051777	G	A	242051777	2	1	22	1	0	0	0	0	0	0	0	1	11472	1103	39	1		1	PASK	2	242051777	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4992	242051777	1147596	1940	7048										
PASK	23178	hgsc.bcm.edu	37	chr2	242062162	242062162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttacctccttgtttttttcCttgtccacagcagtccacac	5	14	0	0	rs2302050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242062162C>T	ENST00000405260.1	-	12	3755	c.3057G>A	c.(3055-3057)aaG>aaA	p.K1019K	PASK_ENST00000234040.4_Silent_p.K1019K|PASK_ENST00000539818.1_Silent_p.K803K|PASK_ENST00000544142.1_Silent_p.K833K|PASK_ENST00000403638.3_Silent_p.K1019K|PASK_ENST00000358649.4_Silent_p.K1019K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1019	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTTTTTTTCCTTGTCCACAG	0.597													C|||	1476	0.294728	0.4811	0.2464	5008	,	,		18407	0.4405		0.0964	False		,,,				2504	0.1309				p.K1019K		Atlas-SNP	.											.	PASK	230	.	0			c.G3057A						PASS	.	C		1823,2583	529.0+/-372.6	406,1011,786	84	92	89		3057	2.7	0.3	2	dbSNP_100	89	752,7848	178.3+/-227.7	30,692,3578	no	coding-synonymous	PASK	NM_015148.2		436,1703,4364	TT,TC,CC		8.7442,41.3754,19.7986		1019/1324	242062162	2575,10431	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon12			TTTTTCCTTGTCC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3057G>A	2.37:g.242062162C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	116	55	0.474138	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			C|0.755;T|0.245	0.245	strong		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242062162	C	T	242062162	2	4	22	1	0	0	0	0	0	0	0	1	11472	680	24	2		2	PASK	2	242062162	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10385	242062162	1137211	1941	7049										
PASK	23178	hgsc.bcm.edu	37	chr2	242063448	242063448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaacaggcgggtcctggcGgctgagtcgcgttggctgtg	19	9	0	1	rs2302052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242063448G>A	ENST00000405260.1	-	11	3518	c.2820C>T	c.(2818-2820)gcC>gcT	p.A940A	PASK_ENST00000544142.1_Silent_p.A754A|PASK_ENST00000358649.4_Silent_p.A940A|PASK_ENST00000539818.1_Silent_p.A724A|PASK_ENST00000403638.3_Silent_p.A940A|PASK_ENST00000234040.4_Silent_p.A940A	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	940					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGTCCTGGCGGCTGAGTCGC	0.632													G|||	474	0.0946486	0.1369	0.0951	5008	,	,		11317	0.131		0.0606	False		,,,				2504	0.0348				p.A940A		Atlas-SNP	.											.	PASK	230	.	0			c.C2820T						PASS	.	G		627,3779	269.2+/-268.9	51,525,1627	45	48	47		2820	0.3	0	2	dbSNP_100	47	566,8034	151.9+/-206.6	18,530,3752	no	coding-synonymous	PASK	NM_015148.2		69,1055,5379	AA,AG,GG		6.5814,14.2306,9.1727		940/1324	242063448	1193,11813	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon11			CCTGGCGGCTGAG	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2820C>T	2.37:g.242063448G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	135	66	0.488889	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			G|0.898;A|0.102	0.102	strong		0.632	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242063448	G	A	242063448	2	1	22	1	0	0	0	0	0	0	0	1	11472	1103	39	1		1	PASK	2	242063448	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1286	242063448	1135925	1942	7050										
PASK	23178	hgsc.bcm.edu	37	chr2	242065624	242065624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatactcagccgtaagccAtctcgatggtagcagctccc	9	14	2	0	rs2240541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242065624A>G	ENST00000405260.1	-	10	3404	c.2706T>C	c.(2704-2706)gaT>gaC	p.D902D	PASK_ENST00000234040.4_Silent_p.D902D|PASK_ENST00000539818.1_Silent_p.D686D|PASK_ENST00000544142.1_Silent_p.D716D|PASK_ENST00000403638.3_Silent_p.D902D|PASK_ENST00000358649.4_Silent_p.D902D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	902					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCGTAAGCCATCTCGATGGT	0.642													G|||	872	0.174121	0.4244	0.1153	5008	,	,		17498	0.124		0.0696	False		,,,				2504	0.0368				p.D902D		Atlas-SNP	.											.	PASK	230	.	0			c.T2706C						PASS	.	G		1774,2632	637.0+/-396.7	365,1044,794	63	49	54		2706	-3.9	0	2	dbSNP_98	54	648,7952	785.7+/-407.6	25,598,3677	no	coding-synonymous	PASK	NM_015148.2		390,1642,4471	GG,GA,AA		7.5349,40.2633,18.6222		902/1324	242065624	2422,10584	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon10			TAAGCCATCTCGA	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2706T>C	2.37:g.242065624A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	136	64	0.470588	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			A|0.812;G|0.188	0.188	strong		0.642	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		G	242065624	A	G	242065624	2	3	22	1	0	0	0	0	0	0	0	1	11472	214	8	2		2	PASK	2	242065624	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2176	242065624	1133749	1943	7051										
PASK	23178	hgsc.bcm.edu	37	chr2	242065635	242065635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtaagccatctcgatggtAgcagctcccggagtaggcac	12	13	1	0	rs77674262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242065635A>G	ENST00000405260.1	-	10	3393	c.2695T>C	c.(2695-2697)Tac>Cac	p.Y899H	PASK_ENST00000544142.1_Missense_Mutation_p.Y713H|PASK_ENST00000358649.4_Missense_Mutation_p.Y899H|PASK_ENST00000539818.1_Missense_Mutation_p.Y683H|PASK_ENST00000403638.3_Missense_Mutation_p.Y899H|PASK_ENST00000234040.4_Missense_Mutation_p.Y899H	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	899				Y -> H (in Ref. 1; AAK69752). {ECO:0000305}.	negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCTCGATGGTAGCAGCTCCCG	0.637													A|||	109	0.0217652	0.0764	0.0115	5008	,	,		17584	0.0		0.0	False		,,,				2504	0.0				p.Y899H		Atlas-SNP	.											.	PASK	230	.	0			c.T2695C						PASS	.	A	HIS/TYR	255,4151	142.3+/-177.5	10,235,1958	70	56	61		2695	2.4	0.9	2	dbSNP_131	61	0,8600		0,0,4300	yes	missense	PASK	NM_015148.2	83	10,235,6258	GG,GA,AA		0.0,5.7876,1.9606	benign	899/1324	242065635	255,12751	2203	4300	6503	SO:0001583	missense	23178	exon10			GATGGTAGCAGCT	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2695T>C	2.37:g.242065635A>G	ENSP00000384016:p.Tyr899His	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	143	74	0.517483	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	42	0.019230769230769232	38	0.07723577235772358	4	0.011049723756906077	0	0.0	0	0.0	A	6.136	0.393272	0.11638	0.057876	0.0	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.33;-0.37;0.57	4.94	2.43	0.29744	.	0.703722	0.12909	N	0.429094	T	0.06872	0.0175	M	0.62723	1.935	0.28200	N	0.927392	B;B;B;B;B	0.18013	0.014;0.025;0.025;0.015;0.014	B;B;B;B;B	0.18561	0.01;0.022;0.022;0.022;0.01	T	0.24440	-1.0160	10	0.45353	T	0.12	.	5.2611	0.15573	0.758:0.0:0.0873:0.1548	.	864;713;899;899;899	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	H	899;713;899;899;683;899	ENSP00000234040:Y899H;ENSP00000441374:Y713H;ENSP00000384016:Y899H;ENSP00000351475:Y899H;ENSP00000443083:Y683H;ENSP00000384438:Y899H	ENSP00000234040:Y899H	Y	-	1	0	PASK	241714308	1.000000	0.71417	0.911000	0.35937	0.022000	0.10575	2.054000	0.41335	0.734000	0.32515	-0.411000	0.06167	TAC	A|0.979;G|0.021	0.021	strong		0.637	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		G	242065635	A	G	242065635	3	3	22	1	0	0	0	0	1	0	0	0	11472	420	15	3	1312	3	PASK	2	242065635	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	242065635	1133738	1944	7052										
PASK	23178	hgsc.bcm.edu	37	chr2	242066314	242066314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggggacatccagggctccTgcaaggctcaactgggacag	15	11	1	0	rs2240542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242066314T>C	ENST00000405260.1	-	10	2714	c.2016A>G	c.(2014-2016)gcA>gcG	p.A672A	PASK_ENST00000544142.1_Silent_p.A486A|PASK_ENST00000358649.4_Silent_p.A672A|PASK_ENST00000539818.1_Silent_p.A456A|PASK_ENST00000403638.3_Silent_p.A672A|PASK_ENST00000234040.4_Silent_p.A672A	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	672					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCAGGGCTCCTGCAAGGCTCA	0.607													C|||	2145	0.428315	0.6331	0.415	5008	,	,		20173	0.4077		0.2575	False		,,,				2504	0.3579				p.A672A		Atlas-SNP	.											.	PASK	230	.	0			c.A2016G						PASS	.	C		2596,1810	526.5+/-371.9	755,1086,362	113	124	120		2016	-1.6	0	2	dbSNP_98	120	2553,6047	686.7+/-404.1	371,1811,2118	yes	coding-synonymous	PASK	NM_015148.2		1126,2897,2480	CC,CT,TT		29.686,41.0803,39.5894		672/1324	242066314	5149,7857	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon10			GGCTCCTGCAAGG	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2016A>G	2.37:g.242066314T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	128	45	0.351562	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			T|0.595;C|0.405	0.405	strong		0.607	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		C	242066314	T	C	242066314	2	2	22	1	0	0	0	0	0	0	0	1	11472	1567	55	3		3	PASK	2	242066314	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	679	242066314	1133059	1945	7053										
PASK	23178	hgsc.bcm.edu	37	chr2	242066830	242066830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggcagcgcctgttcaccGtgcactggcaggcttccttc	12	14	1	0	rs2240544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242066830G>A	ENST00000405260.1	-	10	2198	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	PASK_ENST00000234040.4_Silent_p.H500H|PASK_ENST00000539818.1_Silent_p.H284H|PASK_ENST00000544142.1_Silent_p.H314H|PASK_ENST00000403638.3_Silent_p.H500H|PASK_ENST00000358649.4_Silent_p.H500H	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	500					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTGTTCACCGTGCACTGGCA	0.552													G|||	413	0.0824681	0.0968	0.0951	5008	,	,		17808	0.123		0.0606	False		,,,				2504	0.0348				p.H500H		Atlas-SNP	.											.	PASK	230	.	0			c.C1500T						PASS	.	G		470,3936	223.9+/-240.3	27,416,1760	85	87	86		1500	-9.7	0	2	dbSNP_98	86	568,8032	154.2+/-208.4	18,532,3750	no	coding-synonymous	PASK	NM_015148.2		45,948,5510	AA,AG,GG		6.6047,10.6673,7.9809		500/1324	242066830	1038,11968	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon10			TTCACCGTGCACT	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1500C>T	2.37:g.242066830G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			G|0.910;A|0.090	0.090	strong		0.552	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242066830	G	A	242066830	2	1	22	1	0	0	0	0	0	0	0	1	11472	1136	40	1		1	PASK	2	242066830	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	516	242066830	1132543	1946	7054										
ANO7	50636	hgsc.bcm.edu	37	chr2	242163366	242163367	+	Frame_Shift_Del	DEL	CA	CA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgagcagcccgagggctCagaggcaagtctgggagcag					rs60985508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242163366_242163367delCA	ENST00000274979.8	+	24	2844_2845	c.2741_2742delCA	c.(2740-2742)tcafs	p.S914fs		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	914					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCGAGGGCTCAGAGGCAAGTC	0.629														474	0.0946486	0.3374	0.0259	5008	,	,		17263	0.0		0.002	False		,,,				2504	0.0082				p.914_914del		Pindel,Atlas-Indel	.											.	ANO7	136	.	0			c.2740_2741del						PASS	.			1308,2958		197,914,1022						0.8	0		dbSNP_129	69	22,8232		0,22,4105	no	frameshift	ANO7	NM_001001891.3		197,936,5127	A1A1,A1R,RR		0.2665,30.661,10.623				1330,11190				SO:0001589	frameshift_variant	50636	exon24			.	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2741_2742delCA	2.37:g.242163366_242163367delCA	ENSP00000274979:p.Ser914fs	Somatic	92	.	.		WXS	Illumina HiSeq	Phase_I	87	16	0.184	NM_001001891	Q6IWH6	Frame_Shift_Del	DEL	ENST00000274979.8	37	CCDS33423.1																																																																																			CA|0.917;-|0.083	0.083	strong		0.629	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		-	242163367	CA	-	242163366	7	5	22	1	0	1	0	1	0	0	0	0	702	838	29	0	2907	0	ANO7	2	242163366	Frame_Shift_Del	DEL	CA	TCGA-G8-6324-01A-11D-2210-10	96536	242163366	1036007	1947	7055										
HDLBP	3069	hgsc.bcm.edu	37	chr2	242173247	242173247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctcacctggttcccatcGtccttatcaggaaactggat	8	13	2	0	rs2230359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242173247G>A	ENST00000391975.1	-	24	3503	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	HDLBP_ENST00000391976.2_Silent_p.D1092D|HDLBP_ENST00000310931.4_Silent_p.D1092D|HDLBP_ENST00000427183.2_Silent_p.D1059D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1092	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGTTCCCATCGTCCTTATCAG	0.522													G|||	619	0.123602	0.4365	0.0418	5008	,	,		20045	0.0		0.003	False		,,,				2504	0.0102				p.D1092D		Atlas-SNP	.											.	HDLBP	118	.	0			c.C3276T						PASS	.	G	,	1641,2765	504.2+/-365.8	296,1049,858	146	130	135		3276,3276	-10.6	0	2	dbSNP_98	135	27,8573	18.5+/-59.3	0,27,4273	no	coding-synonymous,coding-synonymous	HDLBP	NM_005336.4,NM_203346.3	,	296,1076,5131	AA,AG,GG		0.314,37.2447,12.8249	,	1092/1269,1092/1269	242173247	1668,11338	2203	4300	6503	SO:0001819	synonymous_variant	3069	exon24			CCCATCGTCCTTA		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3276C>T	2.37:g.242173247G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	137	135	0.985401	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1																																																																																			T|0.032;G|0.738;C|0.133;A|0.097	0.097	strong		0.522	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		A	242173247	G	A	242173247	2	1	22	1	0	0	0	0	0	0	0	1	7025	1136	40	1		1	HDLBP	2	242173247	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9881	242173247	1026126	1948	7056										
FARP2	9855	hgsc.bcm.edu	37	chr2	242352768	242352768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaccgagagcacctcaaAgtgaacgagtatttgcctgg	12	10	1	2	rs16843643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242352768A>C	ENST00000264042.3	+	7	725	c.555A>C	c.(553-555)aaA>aaC	p.K185N	FARP2_ENST00000373287.4_Missense_Mutation_p.K185N|FARP2_ENST00000545004.1_Missense_Mutation_p.K185N	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	185	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		K -> N (in dbSNP:rs16843643).		actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCACCTCAAAGTGAACGAGT	0.403													A|||	203	0.0405351	0.146	0.013	5008	,	,		20493	0.001		0.0	False		,,,				2504	0.0				p.K185N		Atlas-SNP	.											.	FARP2	92	.	0			c.A555C						PASS	.	A	ASN/LYS	514,3892	231.7+/-245.5	32,450,1721	104	82	90		555	-5.4	0	2	dbSNP_123	90	10,8590	7.7+/-29.5	0,10,4290	yes	missense	FARP2	NM_014808.2	94	32,460,6011	CC,CA,AA		0.1163,11.6659,4.0289	probably-damaging	185/1055	242352768	524,12482	2203	4300	6503	SO:0001583	missense	9855	exon7			CCTCAAAGTGAAC	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.555A>C	2.37:g.242352768A>C	ENSP00000264042:p.Lys185Asn	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	58	32	0.551724	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	69	0.03159340659340659	64	0.13008130081300814	5	0.013812154696132596	0	0.0	0	0.0	A	8.513	0.866895	0.17250	0.116659	0.001163	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.30714	1.52;1.52;1.52	5.34	-5.39	0.02664	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.312765	0.32533	N	0.005966	T	0.00241	0.0007	L	0.41124	1.26	0.09310	N	1	D;B;P	0.54772	0.968;0.116;0.947	P;B;P	0.50791	0.598;0.078;0.65	T	0.03034	-1.1080	10	0.59425	D	0.04	.	3.6724	0.08279	0.3864:0.1157:0.3863:0.1116	rs16843643;rs52827477;rs59890453;rs16843643	185;185;185	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	N	185	ENSP00000264042:K185N;ENSP00000443876:K185N;ENSP00000362384:K185N	ENSP00000264042:K185N	K	+	3	2	FARP2	242001441	0.001000	0.12720	0.000000	0.03702	0.336000	0.28762	0.092000	0.15066	-1.367000	0.02152	0.528000	0.53228	AAA	A|0.960;C|0.040	0.040	strong		0.403	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			C	242352768	A	C	242352768	3	2	22	1	0	0	0	0	1	0	0	0	5677	69	3	5	577	5	FARP2	2	242352768	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	179521	242352768	846605	1949	7057										
THAP4	51078	hgsc.bcm.edu	37	chr2	242572693	242572693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctctgggaaggcttctgCggtgtcgcggtaagtgatga	18	7	2	2	rs147500721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242572693C>T	ENST00000407315.1	-	2	1310	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	293							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AAGGCTTCTGCGGTGTCGCGG	0.657													C|||	46	0.0091853	0.0325	0.0029	5008	,	,		15917	0.0		0.001	False		,,,				2504	0.0				p.P293P		Atlas-SNP	.											.	THAP4	27	.	0			c.G879A						PASS	.	C		190,4216	121.7+/-159.2	5,180,2018	74	80	78		879	-11	0.2	2	dbSNP_134	78	0,8592		0,0,4296	no	coding-synonymous	THAP4	NM_015963.5		5,180,6314	TT,TC,CC		0.0,4.3123,1.4618		293/578	242572693	190,12808	2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			CTTCTGCGGTGTC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.879G>A	2.37:g.242572693C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_015963	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																			C|0.985;T|0.015	0.015	strong		0.657	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		T	242572693	C	T	242572693	2	4	22	1	0	0	0	0	0	0	0	1	15843	755	27	1		1	THAP4	2	242572693	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	219925	242572693	626680	1950	7058										
THAP4	51078	hgsc.bcm.edu	37	chr2	242572846	242572846	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctttctcgggtgtgcttAgaggagaaactgtacgaatg	14	7	1	2	rs3208142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242572846A>G	ENST00000407315.1	-	2	1157	c.726T>C	c.(724-726)tcT>tcC	p.S242S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	242							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGGTGTGCTTAGAGGAGAAAC	0.537													G|||	2144	0.428115	0.41	0.3429	5008	,	,		19156	0.5665		0.3181	False		,,,				2504	0.4836				p.S242S		Atlas-SNP	.											.	THAP4	27	.	0			c.T726C						PASS	.	G		1638,2768	657.4+/-400.2	300,1038,865	70	80	76		726	2.1	1	2	dbSNP_105	76	2586,6006	687.2+/-404.2	410,1766,2120	no	coding-synonymous	THAP4	NM_015963.5		710,2804,2985	GG,GA,AA		30.0978,37.1766,32.4973		242/578	242572846	4224,8774	2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			GTGCTTAGAGGAG	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.726T>C	2.37:g.242572846A>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_015963	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																			A|0.650;G|0.350	0.350	strong		0.537	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		G	242572846	A	G	242572846	2	3	22	1	0	0	0	0	0	0	0	1	15843	407	15	3		3	THAP4	2	242572846	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	153	242572846	626527	1951	7059										
ATG4B	23192	hgsc.bcm.edu	37	chr2	242610172	242610172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagactgaagatgacttcaAtgattggtgccagcaagtca	10	7	2	5	rs138274580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242610172A>G	ENST00000404914.3	+	11	1092	c.989A>G	c.(988-990)aAt>aGt	p.N330S	ATG4B_ENST00000474739.2_Missense_Mutation_p.N316S|ATG4B_ENST00000402096.1_Missense_Mutation_p.N256S|ATG4B_ENST00000396411.3_Missense_Mutation_p.N256S|ATG4B_ENST00000405546.3_Missense_Mutation_p.N330S	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	330					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GATGACTTCAATGATTGGTGC	0.557													a|||	391	0.0780751	0.1536	0.0259	5008	,	,		19379	0.0675		0.0099	False		,,,				2504	0.0941				p.N330S	Melanoma(78;458 1323 6342 12171 39523)	Atlas-SNP	.											.	ATG4B	35	.	0			c.A989G						PASS	.	G	SER/ASN,SER/ASN	525,3375		25,475,1450	74	74	74		989,989	3.3	0	2	dbSNP_134	74	112,8138		3,106,4016	yes	missense,missense	ATG4B	NM_013325.4,NM_178326.2	46,46	28,581,5466	GG,GA,AA		1.3576,13.4615,5.2428	benign,benign	330/394,330/381	242610172	637,11513	1950	4125	6075	SO:0001583	missense	23192	exon11			ACTTCAATGATTG	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.989A>G	2.37:g.242610172A>G	ENSP00000384259:p.Asn330Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	115	56	0.486957	NM_178326	B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	CCDS46564.1	120	0.054945054945054944	70	0.14227642276422764	9	0.024861878453038673	36	0.06293706293706294	5	0.006596306068601583	a	11.78	1.739671	0.30774	0.134615	0.013576	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000428861	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.66	3.29	0.37713	.	0.261099	0.44902	N	0.000402	T	0.00300	0.0009	L	0.56769	1.78	0.80722	P	0.0	B;B;B;B;B;B	0.32031	0.082;0.061;0.352;0.171;0.002;0.024	B;B;B;B;B;B	0.28916	0.043;0.063;0.061;0.096;0.027;0.026	T	0.05869	-1.0859	9	0.33940	T	0.23	-12.2164	10.7049	0.45950	0.882:0.0:0.118:0.0	.	316;447;83;418;330;256	F5H7P2;B4DZK0;B3KVU2;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;.;ATG4B_HUMAN;.	S	330;447;256;330;316;256;167	ENSP00000383964:N330S;ENSP00000384661:N256S;ENSP00000384259:N330S;ENSP00000442378:N316S;ENSP00000379692:N256S;ENSP00000404783:N167S	ENSP00000336547:N447S	N	+	2	0	ATG4B	242258845	0.788000	0.28762	0.004000	0.12327	0.974000	0.67602	2.999000	0.49473	0.425000	0.26087	-1.050000	0.02344	AAT	A|0.945;G|0.055	0.055	strong		0.557	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		G	242610172	A	G	242610172	3	3	22	1	0	0	0	0	1	0	0	0	1097	101	4	2	1031	2	ATG4B	2	242610172	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37326	242610172	589201	1952	7060										
D2HGDH	728294	hgsc.bcm.edu	37	chr2	242674803	242674803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggagcgctaccccgtgcGgcgcttgccgttctccacgg	14	17	1	0	rs77940364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242674803G>A	ENST00000321264.4	+	2	373	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	D2HGDH_ENST00000403782.1_Intron|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R55Q|AC114730.8_ENST00000400768.2_RNA|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R55Q	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	55				R -> Q (in Ref. 3; AAH36604). {ECO:0000305}.	2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TACCCCGTGCGGCGCTTGCCG	0.741													G|||	1134	0.226438	0.1914	0.2017	5008	,	,		13600	0.1617		0.3191	False		,,,				2504	0.2628				p.R55Q		Atlas-SNP	.											.	D2HGDH	39	.	0			c.G164A						PASS	.	G	GLN/ARG	788,3316		84,620,1348	7	9	9		164	-6.4	0.4	2	dbSNP_131	9	2638,5780		471,1696,2042	yes	missense	D2HGDH	NM_152783.3	43	555,2316,3390	AA,AG,GG		31.3376,19.2008,27.3598	benign	55/522	242674803	3426,9096	2052	4209	6261	SO:0001583	missense	728294	exon2			CCGTGCGGCGCTT	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.164G>A	2.37:g.242674803G>A	ENSP00000315351:p.Arg55Gln	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	45	21	0.466667	NM_152783	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	CCDS33426.1	474	0.21703296703296704	84	0.17073170731707318	74	0.20441988950276244	77	0.1346153846153846	239	0.3153034300791557	G	11.38	1.622085	0.28889	0.192008	0.313376	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000342518	D;D;D	0.88277	-2.36;-1.97;-2.36	4.13	-6.41	0.01938	.	0.966165	0.08381	N	0.954463	T	0.00012	0.0000	N	0.25992	0.78	0.80722	P	0.0	B	0.18968	0.032	B	0.19148	0.024	T	0.03524	-1.1028	9	0.15952	T	0.53	.	13.5346	0.61641	0.7652:0.0:0.2348:0.0	.	55	Q8N465	D2HDH_HUMAN	Q	55	ENSP00000442796:R55Q;ENSP00000315351:R55Q;ENSP00000339536:R55Q	ENSP00000315351:R55Q	R	+	2	0	D2HGDH	242323476	0.045000	0.20229	0.395000	0.26283	0.607000	0.37147	-0.267000	0.08619	-1.798000	0.01250	0.297000	0.19635	CGG	G|0.785;A|0.215	0.215	strong		0.741	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		A	242674803	G	A	242674803	3	1	22	1	0	0	0	0	1	0	0	0	4213	1116	39	1	166	1	D2HGDH	2	242674803	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64631	242674803	524570	1953	7061										
NEU4	129807	hgsc.bcm.edu	37	chr2	242757820	242757820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagttggtcagtgggccccGggagtcccctccagcctcca	12	16	1	0	rs11545301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242757820G>A	ENST00000391969.2	+	5	1612	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	NEU4_ENST00000404257.1_Missense_Mutation_p.G313R|NEU4_ENST00000405370.1_Missense_Mutation_p.G301R|NEU4_ENST00000407683.1_Missense_Mutation_p.G301R|NEU4_ENST00000325935.6_Missense_Mutation_p.G314R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	301	Pro-rich.		G -> R (in dbSNP:rs11545301). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14962670, ECO:0000269|PubMed:15498874}.		ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGTGGGCCCCGGGAGTCCCCT	0.701													G|||	1213	0.242212	0.2988	0.2176	5008	,	,		13537	0.1002		0.2783	False		,,,				2504	0.2924				p.G314R		Atlas-SNP	.											.	NEU4	39	.	0			c.G940A						PASS	.		ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1158,3026		168,822,1102	9	12	11		940,901,901,901,937	-3.2	0	2	dbSNP_120	11	2335,5971		357,1621,2175	yes	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	125,125,125,125,125	525,2443,3277	AA,AG,GG		28.1122,27.6769,27.9664	benign,benign,benign,benign,benign	314/498,301/485,301/485,301/485,313/497	242757820	3493,8997	2092	4153	6245	SO:0001583	missense	129807	exon4			GGCCCCGGGAGTC	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.901G>A	2.37:g.242757820G>A	ENSP00000375830:p.Gly301Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	88	50	0.568182	NM_001167599	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	531	0.24313186813186813	153	0.31097560975609756	92	0.2541436464088398	62	0.10839160839160839	224	0.2955145118733509	G	1.760	-0.486996	0.04352	0.276769	0.281122	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	T;T;T;T;T	0.75367	-0.92;-0.92;-0.93;-0.92;-0.93	3.37	-3.25	0.05079	Neuraminidase (1);	1.630680	0.03917	N	0.282864	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.03566	-1.1024	9	0.09084	T	0.74	-3.816	5.0178	0.14345	0.4482:0.0:0.4064:0.1453	rs11545301	313;313;301	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	R	301;301;311;313;301;314	ENSP00000385402:G301R;ENSP00000384804:G301R;ENSP00000385149:G313R;ENSP00000375830:G301R;ENSP00000320318:G314R	ENSP00000320318:G314R	G	+	1	0	NEU4	242406493	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.972000	0.03802	-0.372000	0.07992	-0.529000	0.04317	GGG	G|0.725;A|0.275	0.275	strong		0.701	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		A	242757820	G	A	242757820	3	1	22	1	0	0	0	0	1	0	0	0	10344	1116	39	1	954	1	NEU4	2	242757820	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83017	242757820	441553	1954	7062										
C2orf85	285093	hgsc.bcm.edu	37	chr2	242814463	242814463	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcctgtctggggattcAgtggccatgcctgggggcaa	14	10	3	0	rs28523279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242814463A>T	ENST00000343216.3	+	2	784	c.756A>T	c.(754-756)tcA>tcT	p.S252S		NM_173821.2	NP_776182.2																					CTGGGGATTCAGTGGCCATGC	0.682													T|||	1562	0.311901	0.3638	0.3199	5008	,	,		16443	0.6012		0.1064	False		,,,				2504	0.1493				p.S252S		Atlas-SNP	.											.	.	.	.	0			c.A756T						PASS	.			1180,2618		196,788,915	26	30	29		756	-0.2	0	2	dbSNP_125	29	739,7481		41,657,3412	no	coding-synonymous	C2orf85	NM_173821.2		237,1445,4327	TT,TA,AA		8.9903,31.069,15.9677		252/573	242814463	1919,10099	1899	4110	6009	SO:0001819	synonymous_variant	285093	exon2			GGATTCAGTGGCC																												ENST00000343216.3:c.756A>T	2.37:g.242814463A>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	71	0.533835	NM_173821		Silent	SNP	ENST00000343216.3	37	CCDS42843.1																																																																																			A|0.731;T|0.269	0.269	strong		0.682	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			T	242814463	A	T	242814463	2	4	22	1	0	0	0	0	0	0	0	1	2200	175	7	5		5	C2orf85	2	242814463	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	56643	242814463	384910	1955	7063										
C2orf85	285093	hgsc.bcm.edu	37	chr2	242814604	242814604	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggctccctctgcagcccGgttggcgtggcccagggctg	17	15	1	0	rs78628254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242814604G>C	ENST00000343216.3	+	2	925	c.897G>C	c.(895-897)ccG>ccC	p.P299P		NM_173821.2	NP_776182.2																					TCTGCAGCCCGGTTGGCGTGG	0.667													G|||	228	0.0455272	0.1664	0.0086	5008	,	,		18709	0.0		0.002	False		,,,				2504	0.0				p.P299P		Atlas-SNP	.											.	.	.	.	0			c.G897C						PASS	.			556,3250		37,482,1384	36	41	39		897	-5.6	0	2	dbSNP_131	39	3,8227		0,3,4112	no	coding-synonymous	C2orf85	NM_173821.2		37,485,5496	CC,CG,GG		0.0365,14.6085,4.6444		299/573	242814604	559,11477	1903	4115	6018	SO:0001819	synonymous_variant	285093	exon2			CAGCCCGGTTGGC																												ENST00000343216.3:c.897G>C	2.37:g.242814604G>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_173821		Silent	SNP	ENST00000343216.3	37	CCDS42843.1																																																																																			G|0.967;C|0.033	0.033	strong		0.667	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			C	242814604	G	C	242814604	2	2	22	1	0	0	0	0	0	0	0	1	2200	1103	39	4		4	C2orf85	2	242814604	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	141	242814604	384769	1956	7064										
C2orf85	285093	hgsc.bcm.edu	37	chr2	242814778	242814778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaccctctcggagcccacCgatggccctgtggccactaa	9	17	1	0	rs7597435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242814778C>T	ENST00000343216.3	+	2	1099	c.1071C>T	c.(1069-1071)acC>acT	p.T357T		NM_173821.2	NP_776182.2																					CGGAGCCCACCGATGGCCCTG	0.612													C|||	204	0.0407348	0.1475	0.0101	5008	,	,		19528	0.0		0.002	False		,,,				2504	0.0				p.T357T		Atlas-SNP	.											.	.	.	.	0			c.C1071T						PASS	.	C		534,3442		35,464,1489	29	34	32		1071	-4.3	0	2	dbSNP_116	32	3,8279		0,3,4138	no	coding-synonymous	C2orf85	NM_173821.2		35,467,5627	TT,TC,CC		0.0362,13.4306,4.3808		357/573	242814778	537,11721	1988	4141	6129	SO:0001819	synonymous_variant	285093	exon2			GCCCACCGATGGC																												ENST00000343216.3:c.1071C>T	2.37:g.242814778C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	198	88	0.444444	NM_173821		Silent	SNP	ENST00000343216.3	37	CCDS42843.1																																																																																			C|0.963;T|0.037	0.037	strong		0.612	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			T	242814778	C	T	242814778	2	4	22	1	0	0	0	0	0	0	0	1	2200	639	23	1		1	C2orf85	2	242814778	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	174	242814778	384595	1957	7065										
C2orf85	285093	hgsc.bcm.edu	37	chr2	242815157	242815157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcttcgatgtcataaagCgcaagggcggtggccacgtt	13	10	2	0	rs77317868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr2:242815157C>T	ENST00000343216.3	+	2	1478	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C		NM_173821.2	NP_776182.2																					TGTCATAAAGCGCAAGGGCGG	0.627													C|||	168	0.0335463	0.121	0.0086	5008	,	,		15580	0.0		0.002	False		,,,				2504	0.0				p.R484C		Atlas-SNP	.											.	.	.	.	0			c.C1450T						PASS	.	C	CYS/ARG	469,3695		27,415,1640	69	80	76		1450	-3.6	0	2	dbSNP_131	76	4,8400		0,4,4198	yes	missense	C2orf85	NM_173821.2	180	27,419,5838	TT,TC,CC		0.0476,11.2632,3.7635	benign	484/573	242815157	473,12095	2082	4202	6284	SO:0001583	missense	285093	exon2			ATAAAGCGCAAGG																												ENST00000343216.3:c.1450C>T	2.37:g.242815157C>T	ENSP00000345374:p.Arg484Cys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_173821		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	49	0.022435897435897436	44	0.08943089430894309	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	.	7.258	0.604519	0.14002	0.112632	4.76E-4	ENSG00000188011	ENST00000343216	T	0.22539	1.95	2.14	-3.6	0.04570	.	.	.	.	.	T	0.00144	0.0004	N	0.03608	-0.345	0.09310	N	1	B	0.21225	0.053	B	0.06405	0.002	T	0.32322	-0.9911	9	0.87932	D	0	-7.0233	0.6619	0.00844	0.4047:0.248:0.1829:0.1644	.	484	Q14D33	CB085_HUMAN	C	484	ENSP00000345374:R484C	ENSP00000345374:R484C	R	+	1	0	C2orf85	242463830	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-1.257000	0.02866	-0.945000	0.03681	0.196000	0.17591	CGC	C|0.973;T|0.027	0.027	strong		0.627	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			T	242815157	C	T	242815157	3	4	22	1	0	0	0	0	1	0	0	0	2200	768	27	1	1456	1	C2orf85	2	242815157	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	379	242815157	384216	1958	7066										
CHL1	10752	hgsc.bcm.edu	37	chr3	361508	361508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcgtatatctaatgttcCtcctgttaaaattctcaaaa	3	8	2	0	rs2272522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:361508C>T	ENST00000256509.2	+	3	691	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CHL1_ENST00000397491.2_Missense_Mutation_p.L17F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L17F(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTAATGTTCCTCCTGTTAAA	0.338													T|||	1763	0.352037	0.5643	0.2378	5008	,	,		16826	0.3085		0.2048	False		,,,				2504	0.3425				p.L17F		Atlas-SNP	.											CHL1,caecum,carcinoma,0,2	CHL1	242	2	1	Substitution - Missense(1)	stomach(1)	c.C49T	GRCh37	CM023348	CHL1	M	rs2272522	PASS	.	T	PHE/LEU	2278,2126	572.4+/-383.3	567,1144,491	63	66	65		49	-2	0	3	dbSNP_100	65	1740,6860	732.3+/-406.8	185,1370,2745	yes	missense	CHL1	NM_006614.2	22	752,2514,3236	TT,TC,CC		20.2326,48.2743,30.8982	benign	17/1225	361508	4018,8986	2202	4300	6502	SO:0001583	missense	10752	exon1			ATGTTCCTCCTGT	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.49C>T	3.37:g.361508C>T	ENSP00000256509:p.Leu17Phe	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_001253388	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	678	0.31043956043956045	272	0.5528455284552846	84	0.23204419889502761	176	0.3076923076923077	146	0.19261213720316622	T	0.103	-1.149599	0.01714	0.517257	0.202326	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;T	0.65732	0.16;0.19;1.01;0.21;0.13;-0.17	4.78	-2.03	0.07365	.	0.510152	0.20101	N	0.099240	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.36286	-0.9754	9	0.02654	T	1	.	10.7653	0.46291	0.0:0.4333:0.0:0.5667	rs2272522;rs57759025;rs2272522	17;17;17	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	F	17	ENSP00000256509:L17F;ENSP00000380628:L17F;ENSP00000403311:L17F;ENSP00000413628:L17F;ENSP00000397445:L17F;ENSP00000390440:L17F	ENSP00000256509:L17F	L	+	1	0	CHL1	336508	0.756000	0.28383	0.003000	0.11579	0.135000	0.20990	-0.166000	0.09954	-0.954000	0.03640	-1.197000	0.01672	CTC	C|0.678;T|0.322	0.322	strong		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	361508	C	T	361508	3	4	22	1	0	0	0	0	1	0	0	0	3349	681	24	2	51	2	CHL1	3	361508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10		361508	197660922	1959	7067										
CNTN4	152330	hgsc.bcm.edu	37	chr3	2787338	2787338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgcacagcgacaaactcGtttggaacaattgttagcag	10	9	0	0	rs116041691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:2787338G>A	ENST00000397461.1	+	5	699	c.315G>A	c.(313-315)tcG>tcA	p.S105S	CNTN4_ENST00000427331.1_Silent_p.S105S|CNTN4_ENST00000418658.1_Silent_p.S105S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	105	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGACAAACTCGTTTGGAACAA	0.408													G|||	28	0.00559105	0.0212	0.0	5008	,	,		17052	0.0		0.0	False		,,,				2504	0.0				p.S105S		Atlas-SNP	.											CNTN4_ENST00000418658,NS,carcinoma,0,1	CNTN4	335	1	0			c.G315A						PASS	.	G	,	64,3818		1,62,1878	146	137	140		315,315	-7.4	0.7	3	dbSNP_132	140	1,8275		0,1,4137	no	coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_175607.2	,	1,63,6015	AA,AG,GG		0.0121,1.6486,0.5346	,	105/1027,105/1027	2787338	65,12093	1941	4138	6079	SO:0001819	synonymous_variant	152330	exon6			AAACTCGTTTGGA	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.315G>A	3.37:g.2787338G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	78	48	0.615385	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																			G|0.996;A|0.004	0.004	strong		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	2787338	G	A	2787338	2	1	22	1	0	0	0	0	0	0	0	1	3643	1132	40	1		1	CNTN4	3	2787338	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2425830	2787338	195235092	1960	7068										
IL5RA	3568	hgsc.bcm.edu	37	chr3	3139957	3139957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcaagttaaattcacaaTtgaggttccaggagacccta	10	8	1	2	rs2290610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:3139957T>C	ENST00000446632.2	-	6	959	c.385A>G	c.(385-387)Att>Gtt	p.I129V	IL5RA_ENST00000456302.1_Missense_Mutation_p.I129V|IL5RA_ENST00000418488.2_Missense_Mutation_p.I129V|IL5RA_ENST00000430514.2_Missense_Mutation_p.I129V|IL5RA_ENST00000311981.8_Missense_Mutation_p.I129V|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.I129V|IL5RA_ENST00000256452.3_Missense_Mutation_p.I129V|IL5RA_ENST00000438560.1_Missense_Mutation_p.I129V	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	129			I -> V (in dbSNP:rs2290610). {ECO:0000269|PubMed:1732409, ECO:0000269|Ref.6}.		cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAATTCACAATTGAGGTTCCA	0.403													T|||	2144	0.428115	0.4047	0.3991	5008	,	,		21287	0.4097		0.3489	False		,,,				2504	0.5808				p.I129V	GBM(169;430 2801 24955 28528)	Atlas-SNP	.											.	IL5RA	55	.	0			c.A385G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1726,2680	515.0+/-368.8	340,1046,817	164	167	166		385,385,385,385,385,385	-4.2	0	3	dbSNP_100	166	3152,5448	478.0+/-369.8	581,1990,1729	yes	missense,missense,missense,missense,missense,missense	IL5RA	NM_000564.4,NM_175724.2,NM_175725.2,NM_175726.3,NM_175727.2,NM_175728.2	29,29,29,29,29,29	921,3036,2546	CC,CT,TT		36.6512,39.1739,37.5058	benign,benign,benign,benign,benign,benign	129/421,129/334,129/336,129/421,129/334,129/336	3139957	4878,8128	2203	4300	6503	SO:0001583	missense	3568	exon6			TCACAATTGAGGT	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.385A>G	3.37:g.3139957T>C	ENSP00000412209:p.Ile129Val	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	150	78	0.52	NM_001243099	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	831	0.3804945054945055	218	0.44308943089430897	147	0.40607734806629836	209	0.36538461538461536	257	0.3390501319261214	T	0	-2.617110	0.00118	0.391739	0.366512	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.72	-4.22	0.03800	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.265650	0.05345	N	0.530869	T	0.00012	0.0000	N	0.04655	-0.195	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.002;0.003	T	0.38243	-0.9670	9	0.02654	T	1	-3.3836	12.8508	0.57856	0.0:0.3013:0.0:0.6987	rs2290610;rs17659966;rs17882248;rs60525995;rs2290610	129;129;129;129;129	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	V	129	ENSP00000412209:I129V;ENSP00000390753:I129V;ENSP00000256452:I129V;ENSP00000388858:I129V;ENSP00000373358:I129V;ENSP00000309196:I129V;ENSP00000400400:I129V;ENSP00000392059:I129V;ENSP00000398117:I129V	ENSP00000256452:I129V	I	-	1	0	IL5RA	3114957	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.613000	0.05610	-1.344000	0.02216	-1.601000	0.00813	ATT	T|0.610;C|0.390	0.390	strong		0.403	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			C	3139957	T	C	3139957	3	2	22	1	0	0	0	0	1	0	0	0	7700	1493	52	2	931	2	IL5RA	3	3139957	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	352619	3139957	194882473	1961	7069										
LRRN1	57633	hgsc.bcm.edu	37	chr3	3886721	3886721	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggaggaaaatcagattacCgagatgactgattactgtct	10	6	2	4	rs3749350	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:3886721C>A	ENST00000319331.3	+	2	1157	c.396C>A	c.(394-396)acC>acA	p.T132T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	132						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCAGATTACCGAGATGACTG	0.428													A|||	1458	0.291134	0.4047	0.2565	5008	,	,		20305	0.4067		0.1074	False		,,,				2504	0.2321				p.T132T		Atlas-SNP	.											.	LRRN1	82	.	0			c.C396A						PASS	.	A		1584,2822	658.8+/-400.5	301,982,920	70	73	72		396	-11.3	0	3	dbSNP_107	72	1090,7510	768.9+/-407.6	67,956,3277	no	coding-synonymous	LRRN1	NM_020873.5		368,1938,4197	AA,AC,CC		12.6744,35.951,20.5597		132/717	3886721	2674,10332	2203	4300	6503	SO:0001819	synonymous_variant	57633	exon2			GATTACCGAGATG	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.396C>A	3.37:g.3886721C>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	97	42	0.43299	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																			C|0.758;A|0.242	0.242	strong		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		A	3886721	C	A	3886721	2	1	22	1	0	0	0	0	0	0	0	1	9034	639	23	4		4	LRRN1	3	3886721	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	746764	3886721	194135709	1962	7070										
SETMAR	6419	hgsc.bcm.edu	37	chr3	4358210	4358210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccattctacggtcgttcgAcatttgaagcaaattggaaa	8	8	1	1	rs7647539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:4358210A>G	ENST00000358065.4	+	3	1402	c.1335A>G	c.(1333-1335)cgA>cgG	p.R445R	SETMAR_ENST00000425863.1_Silent_p.R306R|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	445	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		cggtcgttcgacatttgaagc	0.423								Chromatin Structure					G|||	2081	0.415535	0.8865	0.2954	5008	,	,		14865	0.1062		0.3559	False		,,,				2504	0.2444				p.R445R		Atlas-SNP	.											.	SETMAR	30	.	0			c.A1335G						PASS	.	G		3505,895		1406,693,101	13	15	14		1335	0.2	0.7	3	dbSNP_116	14	2843,5743		487,1869,1937	no	coding-synonymous	SETMAR	NM_006515.3		1893,2562,2038	GG,GA,AA		33.112,20.3409,48.8834		445/685	4358210	6348,6638	2200	4293	6493	SO:0001819	synonymous_variant	6419	exon3			CGTTCGACATTTG	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1335A>G	3.37:g.4358210A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_006515	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Silent	SNP	ENST00000358065.4	37	CCDS2563.2																																																																																			A|0.558;G|0.442	0.442	strong		0.423	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		G	4358210	A	G	4358210	2	3	22	1	0	0	0	0	0	0	0	1	14140	262	10	2		2	SETMAR	3	4358210	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	471489	4358210	193664220	1963	7071										
SUMF1	285362	hgsc.bcm.edu	37	chr3	4403837	4403837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccttggttgtcagtccatAgtgggcaggcggtcggctgc	15	10	1	0	rs2633852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:4403837A>G	ENST00000272902.5	-	9	1151	c.1116T>C	c.(1114-1116)acT>acC	p.T372T	SUMF1_ENST00000534863.1_Intron|SUMF1_ENST00000458465.2_Silent_p.T240T|SUMF1_ENST00000405420.2_Silent_p.T352T|SUMF1_ENST00000383843.5_Silent_p.T347T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	372					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GTCAGTCCATAGTGGGCAGGC	0.522													G|||	3808	0.760383	0.9206	0.6945	5008	,	,		20130	0.7609		0.5905	False		,,,				2504	0.7648				p.T372T		Atlas-SNP	.											.	SUMF1	23	.	0			c.T1116C						PASS	.	G	,,	3754,652	277.2+/-273.6	1603,548,52	64	62	63		1041,1056,1116	0.6	0	3	dbSNP_100	63	4747,3853	541.5+/-384.0	1316,2115,869	no	coding-synonymous,coding-synonymous,coding-synonymous	SUMF1	NM_001164674.1,NM_001164675.1,NM_182760.3	,,	2919,2663,921	GG,GA,AA		44.8023,14.798,34.6379	,,	347/350,352/355,372/375	4403837	8501,4505	2203	4300	6503	SO:0001819	synonymous_variant	285362	exon9			GTCCATAGTGGGC	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.1116T>C	3.37:g.4403837A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_182760	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Silent	SNP	ENST00000272902.5	37	CCDS2564.1																																																																																			A|0.307;G|0.693	0.693	strong		0.522	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		G	4403837	A	G	4403837	2	3	22	1	0	0	0	0	0	0	0	1	15382	407	15	3		3	SUMF1	3	4403837	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45627	4403837	193618593	1964	7072										
ITPR1	3708	hgsc.bcm.edu	37	chr3	4716811	4716811	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaacttctctgaccttctAcgattaactaagatccttct	3	12	3	2	rs2306877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:4716811A>C	ENST00000443694.2	+	20	2613	c.2613A>C	c.(2611-2613)ctA>ctC	p.L871L	ITPR1_ENST00000456211.2_Silent_p.L871L|ITPR1_ENST00000423119.2_Silent_p.L886L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.L886L|ITPR1_ENST00000302640.8_Silent_p.L871L|ITPR1_ENST00000357086.4_Silent_p.L886L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	886					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGACCTTCTACGATTAACTA	0.348													A|||	1667	0.332867	0.3911	0.3184	5008	,	,		21702	0.2897		0.1958	False		,,,				2504	0.4499				p.L886L		Atlas-SNP	.											.	ITPR1	659	.	0			c.A2658C						PASS	.	A	,,	1350,2396		263,824,786	131	119	123		2658,2613,2613	-10.1	0.1	3	dbSNP_100	123	1438,6746		124,1190,2778	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	387,2014,3564	CC,CA,AA		17.5709,36.0384,23.3697	,,	886/2711,871/2744,871/2696	4716811	2788,9142	1873	4092	5965	SO:0001819	synonymous_variant	3708	exon23			CCTTCTACGATTA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2613A>C	3.37:g.4716811A>C		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	160	66	0.4125	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																			A|0.703;C|0.297	0.297	strong		0.348	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4716811	A	C	4716811	2	2	22	1	0	0	0	0	0	0	0	1	7920	378	14	5		5	ITPR1	3	4716811	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	312974	4716811	193305619	1965	7073										
ITPR1	3708	hgsc.bcm.edu	37	chr3	4856234	4856234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaggagatgtactcaggaaGccgtccaaagaggtaaatta	12	6	1	2	rs901854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:4856234G>A	ENST00000443694.2	+	55	7644	c.7644G>A	c.(7642-7644)aaG>aaA	p.K2548K	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.K2500K|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Silent_p.K2515K|ITPR1_ENST00000544951.1_Silent_p.K526K|ITPR1_ENST00000354582.6_Silent_p.K2548K|ITPR1_ENST00000302640.8_Silent_p.K2548K|ITPR1_ENST00000357086.4_Silent_p.K2515K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2563					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TACTCAGGAAGCCGTCCAAAG	0.567													G|||	2942	0.58746	0.5295	0.5346	5008	,	,		14907	0.7202		0.5885	False		,,,				2504	0.5654				p.K2548K		Atlas-SNP	.											.	ITPR1	659	.	0			c.G7644A						PASS	.	G	,,	2310,1668		686,938,365	54	57	56		7545,7644,7500	3.1	1	3	dbSNP_86	56	4999,3297		1517,1965,666	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	2203,2903,1031	AA,AG,GG		39.742,41.9306,40.4514	,,	2515/2711,2548/2744,2500/2696	4856234	7309,4965	1989	4148	6137	SO:0001819	synonymous_variant	3708	exon57			CAGGAAGCCGTCC	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7644G>A	3.37:g.4856234G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	93	43	0.462366	NM_001168272	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																			G|0.382;A|0.618	0.618	strong		0.567	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4856234	G	A	4856234	2	1	22	1	0	0	0	0	0	0	0	1	7920	962	34	2		2	ITPR1	3	4856234	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139423	4856234	193166196	1966	7074										
C3orf32	51066	hgsc.bcm.edu	37	chr3	8675539	8675539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggcctgtggactcacgcGggccagccagcctcctcaac	12	16	2	0	rs2276800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:8675539G>A	ENST00000317371.4	-	11	1311	c.86C>T	c.(85-87)cCg>cTg	p.P29L	SSUH2_ENST00000341795.3_Missense_Mutation_p.P29L|SSUH2_ENST00000544814.1_Intron|SSUH2_ENST00000415132.1_Missense_Mutation_p.P29L			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	29			P -> L (in dbSNP:rs2276800).			cytoplasm (GO:0005737)											GGACTCACGCGGGCCAGCCAG	0.657													A|||	1671	0.333666	0.6838	0.2651	5008	,	,		10609	0.1984		0.1829	False		,,,				2504	0.2035				p.P29L		Atlas-SNP	.											C3orf32,NS,carcinoma,0,2	.	.	2	0			c.C86T						PASS	.	A	LEU/PRO	2615,1791	503.9+/-365.7	793,1029,381	27	30	29		86	-4	0	3	dbSNP_100	29	1528,7072	728.5+/-406.7	120,1288,2892	yes	missense	C3orf32	NM_015931.1	98	913,2317,3273	AA,AG,GG		17.7674,40.6491,31.8545	probably-damaging	29/354	8675539	4143,8863	2203	4300	6503	SO:0001583	missense	51066	exon4			TCACGCGGGCCAG	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.86C>T	3.37:g.8675539G>A	ENSP00000324551:p.Pro29Leu	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	97	93	0.958763	NM_015931	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	CCDS2568.1	636	0.29120879120879123	323	0.6565040650406504	89	0.24585635359116023	86	0.15034965034965034	138	0.1820580474934037	A	6.834	0.522996	0.13066	0.593509	0.177674	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132	T;T;T	0.51817	0.74;0.74;0.69	3.97	-4.02	0.04034	.	0.656465	0.14884	N	0.292819	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.07813	T	0.8	0.3753	6.2471	0.20825	0.3373:0.0:0.5156:0.147	rs2276800;rs57482921;rs2276800	29	Q9Y2M2	CC032_HUMAN	L	29	ENSP00000339150:P29L;ENSP00000324551:P29L;ENSP00000410757:P29L	ENSP00000324551:P29L	P	-	2	0	C3orf32	8650539	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.643000	0.05421	-1.368000	0.02149	-0.893000	0.02921	CCG	G|0.689;A|0.311	0.311	strong		0.657	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		A	8675539	G	A	8675539	3	1	22	1	0	0	0	0	1	0	0	0	2222	1116	39	1	1011	1	C3orf32	3	8675539	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3819305	8675539	189346891	1967	7075										
CAV3	859	hgsc.bcm.edu	37	chr3	8787220	8787220	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccctgcaggtggatttTgaagacgtgatcgcagagcc	12	12	0	4	rs13087941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:8787220T>C	ENST00000343849.2	+	2	200	c.123T>C	c.(121-123)ttT>ttC	p.F41F	CAV3_ENST00000397368.2_Silent_p.F41F|SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	41					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)	p.F41F(1)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGGTGGATTTTGAAGACGTGA	0.562													C|||	766	0.152955	0.2837	0.1311	5008	,	,		18630	0.0139		0.2326	False		,,,				2504	0.0532				p.F41F		Atlas-SNP	.											CAV3,NS,carcinoma,0,1	CAV3	20	1	1	Substitution - coding silent(1)	prostate(1)	c.T123C						PASS	.	C	,	1251,3155	704.6+/-407.1	175,901,1127	60	53	56	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	123,123	-7.3	0.6	3	dbSNP_121	56	2073,6527	716.8+/-406.1	242,1589,2469	no	coding-synonymous,coding-synonymous	CAV3	NM_001234.3,NM_033337.2	,	417,2490,3596	CC,CT,TT		24.1047,28.3931,25.5574	,	41/152,41/152	8787220	3324,9682	2203	4300	6503	SO:0001819	synonymous_variant	859	exon2			GGATTTTGAAGAC	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.123T>C	3.37:g.8787220T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_033337	A8K777|Q3T1A4	Silent	SNP	ENST00000343849.2	37	CCDS2569.1																																																																																			T|0.791;C|0.209	0.209	strong		0.562	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		C	8787220	T	C	8787220	2	2	22	1	0	0	0	0	0	0	0	1	2695	1809	63	2		2	CAV3	3	8787220	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111681	8787220	189235210	1968	7076										
OXTR	5021	hgsc.bcm.edu	37	chr3	8809184	8809184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcggtcttgagccgcaaGttctgccagatcttgaagct	12	11	3	3	rs237902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:8809184G>A	ENST00000316793.3	-	3	1314	c.690C>T	c.(688-690)aaC>aaT	p.N230N	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	230					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TGAGCCGCAAGTTCTGCCAGA	0.667													G|||	1240	0.247604	0.3124	0.2305	5008	,	,		14583	0.0546		0.327	False		,,,				2504	0.2894				p.N230N		Atlas-SNP	.											OXTR,NS,carcinoma,0,1	OXTR	31	1	0			c.C690T						PASS	.	G		1325,3073		208,909,1082	21	20	21		690	-1.7	0	3	dbSNP_79	21	2954,5642		522,1910,1866	no	coding-synonymous	OXTR	NM_000916.3		730,2819,2948	AA,AG,GG		34.3648,30.1273,32.9306		230/390	8809184	4279,8715	2199	4298	6497	SO:0001819	synonymous_variant	5021	exon3			CCGCAAGTTCTGC		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.690C>T	3.37:g.8809184G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_000916	Q15071	Silent	SNP	ENST00000316793.3	37	CCDS2570.1																																																																																			G|0.714;A|0.286	0.286	strong		0.667	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			A	8809184	G	A	8809184	2	1	22	1	0	0	0	0	0	0	0	1	11338	1020	36	2		2	OXTR	3	8809184	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21964	8809184	189213246	1969	7077										
SRGAP3	9901	hgsc.bcm.edu	37	chr3	9034605	9034605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctaccggcccatcacccccCcaaagccgtaatccgagatg	7	19	1	1	rs150617309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9034605C>G	ENST00000383836.3	-	20	2970	c.2543G>C	c.(2542-2544)gGg>gCg	p.G848A	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G824A	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	848					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATCACCCCCCCAAAGCCGTA	0.557			T	RAF1	pilocytic astrocytoma																																p.G848A		Atlas-SNP	.		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	SRGAP3	146	.	0			c.G2543C						PASS	.						83	79	81					3																	9034605		2203	4300	6503	SO:0001583	missense	9901	exon20			ACCCCCCCAAAGC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2543G>C	3.37:g.9034605C>G	ENSP00000373347:p.Gly848Ala	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	5.202	0.222874	0.09863	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.22134	1.97;2.37	5.17	5.17	0.71159	.	0.270733	0.35708	N	0.003023	T	0.12860	0.0312	N	0.22421	0.69	0.47621	D	0.999477	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.04551	-1.0943	10	0.02654	T	1	.	13.9514	0.64118	0.0:0.8479:0.1521:0.0	.	824;848	O43295-2;O43295	.;SRGP2_HUMAN	A	848;824	ENSP00000373347:G848A;ENSP00000353587:G824A	ENSP00000353587:G824A	G	-	2	0	SRGAP3	9009605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.779000	0.55379	2.410000	0.81850	0.591000	0.81541	GGG	C|1.000;G|0.000	0.000	alt		0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			G	9034605	C	G	9034605	3	3	22	1	0	0	0	0	1	0	0	0	15146	623	22	4	768	4	SRGAP3	3	9034605	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	225421	9034605	188987825	1970	7078										
SETD5	55209	hgsc.bcm.edu	37	chr3	9490272	9490272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatccctgagagacgtcgAaggccccttctgcctgatgg	11	12	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9490272A>G	ENST00000406341.1	+	15	2494	c.2304A>G	c.(2302-2304)cgA>cgG	p.R768R	SETD5_ENST00000407969.1_Silent_p.R787R|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Silent_p.R670R|SETD5_ENST00000402466.1_Silent_p.R670R|SETD5_ENST00000402198.1_Silent_p.R768R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	768										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAGACGTCGAAGGCCCCTTC	0.448																																					p.R768R		Atlas-SNP	.											SETD5_ENST00000402198,NS,carcinoma,+1,2	SETD5	210	2	0			c.A2304G						scavenged	.						71	69	70					3																	9490272		1936	4143	6079	SO:0001819	synonymous_variant	55209	exon16			ACGTCGAAGGCCC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2304A>G	3.37:g.9490272A>G		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	219	5	0.0228311	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	8.129	0.782625	0.16189	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.73	3.27	0.37495	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52946	-0.8507	4	.	.	.	-7.7584	9.5952	0.39569	0.799:0.0:0.201:0.0	.	.	.	.	E	436;80	.	.	K	+	1	0	SETD5	9465272	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.798000	0.27014	0.491000	0.27793	0.533000	0.62120	AAG	.	.	none		0.448	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		G	9490272	A	G	9490272	2	3	22	1	0	0	0	0	0	0	0	1	14134	233	9	2		2	SETD5	3	9490272	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	455667	9490272	188532158	1971	7079										
BRPF1	7862	hgsc.bcm.edu	37	chr3	9780737	9780737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtagagtatgacatggaCgaggaggactacatctggct	14	6	1	2	rs17050537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9780737C>T	ENST00000457855.1	+	2	665	c.654C>T	c.(652-654)gaC>gaT	p.D218D	BRPF1_ENST00000302054.3_Silent_p.D218D|BRPF1_ENST00000433861.2_Silent_p.D218D|BRPF1_ENST00000383829.2_Silent_p.D218D|BRPF1_ENST00000424362.1_Silent_p.D218D			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	218	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ATGACATGGACGAGGAGGACT	0.507													C|||	54	0.0107827	0.0408	0.0	5008	,	,		23526	0.0		0.0	False		,,,				2504	0.0				p.D218D		Atlas-SNP	.											.	BRPF1	104	.	0			c.C654T						PASS	.	C	,	87,4319	73.6+/-111.7	3,81,2119	125	117	120		654,654	-5	0.9	3	dbSNP_123	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BRPF1	NM_001003694.1,NM_004634.2	,	3,81,6419	TT,TC,CC		0.0,1.9746,0.6689	,	218/1221,218/1215	9780737	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	7862	exon3			CATGGACGAGGAG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.654C>T	3.37:g.9780737C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	170	97	0.570588	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																			C|0.989;T|0.011	0.011	strong		0.507	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		T	9780737	C	T	9780737	2	4	22	1	0	0	0	0	0	0	0	1	1520	535	19	1		1	BRPF1	3	9780737	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	290465	9780737	188241693	1972	7080										
OGG1	4968	hgsc.bcm.edu	37	chr3	9796508	9796508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctggctgcagcagctacGagagtcctcatatgaggagg	14	10	1	2	rs1805373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9796508G>A	ENST00000344629.7	+	4	1029	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	OGG1_ENST00000339511.5_Missense_Mutation_p.R229Q|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Missense_Mutation_p.R229Q|OGG1_ENST00000449570.2_Missense_Mutation_p.R229Q|OGG1_ENST00000349503.5_Missense_Mutation_p.R229Q|OGG1_ENST00000302008.8_Missense_Mutation_p.R229Q|OGG1_ENST00000302003.7_Missense_Mutation_p.R229Q			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	229			R -> Q (in dbSNP:rs1805373). {ECO:0000269|Ref.13}.		acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CAGCAGCTACGAGAGTCCTCA	0.642								Base excision repair (BER), DNA glycosylases					G|||	141	0.028155	0.1029	0.0072	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.0				p.R229Q		Atlas-SNP	.											.	OGG1	57	.	0			c.G686A	GRCh37	CM074394	OGG1	M	rs1805373	PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG	384,4022	185.7+/-212.7	11,362,1830	33	28	30		686,686,686,686,686,,686,686	3.1	0.8	3	dbSNP_98	30	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense,missense,missense,intron,missense,missense	OGG1	NM_002542.5,NM_016819.3,NM_016820.3,NM_016821.2,NM_016826.2,NM_016827.2,NM_016828.2,NM_016829.2	43,43,43,43,43,,43,43	11,365,6127	AA,AG,GG		0.0349,8.7154,2.9755	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging	229/346,229/325,229/411,229/425,229/358,,229/357,229/323	9796508	387,12619	2203	4300	6503	SO:0001583	missense	4968	exon4			AGCTACGAGAGTC	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.686G>A	3.37:g.9796508G>A	ENSP00000342851:p.Arg229Gln	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	146	59	0.40411	NM_016819	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	43|43	0.019688644688644688|0.019688644688644688	39|39	0.07926829268292683|0.07926829268292683	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.07|16.07	3.017581|3.017581	0.54576|0.54576	0.087154|0.087154	3.49E-4|3.49E-4	ENSG00000114026|ENSG00000114026	ENST00000441094|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000339542	.|T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.78|5.78	3.07|3.07	0.35406|0.35406	.|HhH-GPD domain (2);DNA glycosylase (2);	.|0.261230	.|0.45361	.|N	.|0.000369	T|T	0.03520|0.03520	0.0101|0.0101	M|M	0.76938|0.76938	2.355|2.355	0.53005|0.53005	D|D	0.999968|0.999968	.|D;D;P;P;D;P;B;P	.|0.61697	.|0.982;0.99;0.954;0.907;0.977;0.954;0.312;0.933	.|B;B;B;B;B;B;B;B	.|0.43331	.|0.345;0.416;0.299;0.133;0.133;0.299;0.019;0.082	T|T	0.02320|0.02320	-1.1177|-1.1177	5|10	.|0.54805	.|T	.|0.06	-3.3716|-3.3716	11.2674|11.2674	0.49118|0.49118	0.1972:0.0:0.8028:0.0|0.1972:0.0:0.8028:0.0	rs1805373;rs2266693;rs52816862;rs56468739;rs1805373|rs1805373;rs2266693;rs52816862;rs56468739;rs1805373	.|72;229;229;229;229;229;229;229	.|F8WA07;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	K|Q	127|229;229;229;229;229;229;229;72	.|ENSP00000305584:R229Q;ENSP00000342851:R229Q;ENSP00000306561:R229Q;ENSP00000303132:R229Q;ENSP00000345520:R229Q;ENSP00000403598:R229Q;ENSP00000305527:R229Q	.|ENSP00000305584:R229Q	E|R	+|+	1|2	0|0	OGG1|OGG1	9771508|9771508	0.813000|0.813000	0.29090|0.29090	0.768000|0.768000	0.31515|0.31515	0.370000|0.370000	0.29829|0.29829	2.465000|2.465000	0.45075|0.45075	0.384000|0.384000	0.24942|0.24942	-0.203000|-0.203000	0.12734|0.12734	GAG|CGA	G|0.969;A|0.031	0.031	strong		0.642	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		A	9796508	G	A	9796508	3	1	22	1	0	0	0	0	1	0	0	0	10845	1058	37	1	700	1	OGG1	3	9796508	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15771	9796508	188225922	1973	7081										
CAMK1	8536	hgsc.bcm.edu	37	chr3	9804658	9804658	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacagcatccagcacctgGaagatgaggcggctggcgtc	13	12	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9804658G>A	ENST00000256460.3	-	5	546	c.369C>T	c.(367-369)ttC>ttT	p.F123F	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCAGCACCTGGAAGATGAGGC	0.597																																					p.F123F		Atlas-SNP	.											.	CAMK1	32	.	0			c.C369T						PASS	.						71	63	66					3																	9804658		2203	4300	6503	SO:0001819	synonymous_variant	8536	exon5			CACCTGGAAGATG	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.369C>T	3.37:g.9804658G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	121	70	0.578512	NM_003656	Q3KPF6	Silent	SNP	ENST00000256460.3	37	CCDS2582.1																																																																																			.	.	none		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		A	9804658	G	A	9804658	2	1	22	1	0	0	0	0	0	0	0	1	2596	1165	41	2		2	CAMK1	3	9804658	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8150	9804658	188217772	1974	7082										
RPUSD3	285367	hgsc.bcm.edu	37	chr3	9881953	9881953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtcttcttgacaccttcCaggatgtcctttcgggatgg	11	10	2	2	rs116550290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9881953C>T	ENST00000383820.5	-	7	640	c.639G>A	c.(637-639)ctG>ctA	p.L213L	RPUSD3_ENST00000485705.1_5'Flank|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Silent_p.L181L|RPUSD3_ENST00000433535.2_Silent_p.L198L	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	213					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TGACACCTTCCAGGATGTCCT	0.577													c|||	100	0.0199681	0.0719	0.0072	5008	,	,		18351	0.0		0.0	False		,,,				2504	0.0				p.L213L		Atlas-SNP	.											.	RPUSD3	19	.	0			c.G639A						PASS	.	C	,	279,4127	154.8+/-188.1	13,253,1937	126	120	122		594,639	0.2	1	3	dbSNP_132	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPUSD3	NM_001142547.1,NM_173659.3	,	13,254,6236	TT,TC,CC		0.0116,6.3323,2.1529	,	198/337,213/352	9881953	280,12726	2203	4300	6503	SO:0001819	synonymous_variant	285367	exon7			ACCTTCCAGGATG	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.639G>A	3.37:g.9881953C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	127	66	0.519685	NM_173659	B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	CCDS2586.2	34	0.015567765567765568	30	0.06097560975609756	4	0.011049723756906077	0	0.0	0	0.0	c	11.95	1.790450	0.31685	0.063323	1.16E-4	ENSG00000156990	ENST00000423108	.	.	.	4.32	0.221	0.15283	.	.	.	.	.	.	.	.	.	.	.	0.22096	N	0.999367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7934	0.29133	0.0:0.6051:0.0:0.3949	.	.	.	.	X	42	.	.	W	-	2	0	RPUSD3	9856953	0.096000	0.21769	0.976000	0.42696	0.910000	0.53928	0.097000	0.15168	0.088000	0.17205	-0.260000	0.10688	TGG	C|0.979;T|0.021	0.021	strong		0.577	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		T	9881953	C	T	9881953	2	4	22	1	0	0	0	0	0	0	0	1	13668	581	21	2		2	RPUSD3	3	9881953	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77295	9881953	188140477	1975	7083										
CIDEC	63924	hgsc.bcm.edu	37	chr3	9918861	9918861	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttggggctgggctccgaCagcagctgctgggtcaccac	15	14	1	0	rs456168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9918861C>A	ENST00000336832.2	-	3	235	c.96G>T	c.(94-96)ctG>ctT	p.L32L	CIDEC_ENST00000443115.1_Silent_p.L32L|CIDEC_ENST00000383817.1_Silent_p.L32L|CIDEC_ENST00000455015.1_Intron|CIDEC_ENST00000430427.1_Silent_p.L32L|CIDEC_ENST00000423850.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	32					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TGGGCTCCGACAGCAGCTGCT	0.647													C|||	1569	0.313299	0.4962	0.3458	5008	,	,		18973	0.248		0.1998	False		,,,				2504	0.227				p.L45L		Atlas-SNP	.											CIDEC,NS,carcinoma,0,1	CIDEC	22	1	0			c.G135T						PASS	.	C	,,,	1785,2463		385,1015,724	27	27	27		96,96,135,96	4.2	0	3	dbSNP_80	27	1568,6736		155,1258,2739	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	,,,	540,2273,3463	AA,AC,CC		18.8825,42.0198,26.7129	,,,	32/249,32/239,45/252,32/239	9918861	3353,9199	2124	4152	6276	SO:0001819	synonymous_variant	63924	exon3			CTCCGACAGCAGC		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.96G>T	3.37:g.9918861C>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	99	39	0.393939	NM_001199623	C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	ENST00000336832.2	37	CCDS2587.1																																																																																			C|0.678;A|0.322	0.322	strong		0.647	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		A	9918861	C	A	9918861	2	1	22	1	0	0	0	0	0	0	0	1	3427	465	17	4		4	CIDEC	3	9918861	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36908	9918861	188103569	1976	7084										
CRELD1	78987	hgsc.bcm.edu	37	chr3	9984855	9984855	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgggctccaagtgtctCggtgagtctcctgctgatgg	15	10	2	2	rs79223485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:9984855C>T	ENST00000383811.3	+	8	1511	c.912C>T	c.(910-912)ctC>ctT	p.L304L	CRELD1_ENST00000452070.1_Splice_Site_p.L304L|CRELD1_ENST00000326434.5_Splice_Site_p.L304L|CRELD1_ENST00000397170.3_Splice_Site_p.L304L|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	304					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CCAAGTGTCTCGGTGAGTCTC	0.612													C|||	106	0.0211661	0.0772	0.0058	5008	,	,		19596	0.0		0.0	False		,,,				2504	0.0				p.L304L		Atlas-SNP	.											.	CRELD1	48	.	0			c.C912T						PASS	.	C	,,	289,4117	156.6+/-189.7	12,265,1926	45	47	46		912,912,912	-1.4	1	3	dbSNP_132	46	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CRELD1	NM_001031717.3,NM_001077415.2,NM_015513.4	,,	12,268,6223	TT,TC,CC		0.0349,6.5592,2.2451	,,	304/423,304/421,304/421	9984855	292,12714	2203	4300	6503	SO:0001630	splice_region_variant	78987	exon9			GTGTCTCGGTGAG	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.913+1C>T	3.37:g.9984855C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	102	43	0.421569	NM_001077415	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	CCDS2593.1																																																																																			C|0.975;T|0.025	0.025	strong		0.612	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513	Silent	T	9984855	C	T	9984855	5	4	22	1	0	0	0	0	0	0	1	0	3866	898	31	1	942	1	CRELD1	3	9984855	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	65994	9984855	188037575	1977	7085										
TATDN2	9797	hgsc.bcm.edu	37	chr3	10311939	10311939	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaaaccttcagccgttcCggagccttcttccttcacca					rs2075352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10311939C>T	ENST00000287652.4	+	4	2124	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P358L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	358			P -> L (in dbSNP:rs2075352). {ECO:0000269|PubMed:9039502}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TCAGCCGTTCCGGAGCCTTCT	0.532													C|||	898	0.179313	0.2625	0.0778	5008	,	,		19965	0.2768		0.1044	False		,,,				2504	0.1155				p.P358L		Atlas-SNP	.											.	TATDN2	59	.	0			c.C1073T						PASS	.	C	LEU/PRO	1083,3323	393.1+/-328.7	136,811,1256	164	159	161		1073	4.7	0.9	3	dbSNP_96	161	823,7777	189.8+/-236.5	31,761,3508	yes	missense	TATDN2	NM_014760.3	98	167,1572,4764	TT,TC,CC		9.5698,24.5801,14.6548	possibly-damaging	358/762	10311939	1906,11100	2203	4300	6503	SO:0001583	missense	9797	exon4			CCGTTCCGGAGCC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1073C>T	3.37:g.10311939C>T	ENSP00000287652:p.Pro358Leu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	120	71	0.591667	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	397	0.18177655677655677	133	0.2703252032520325	28	0.07734806629834254	158	0.2762237762237762	78	0.10290237467018469	C	6.013	0.370799	0.11409	0.245801	0.095698	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.46819	0.86;0.86	4.73	4.73	0.59995	.	0.559131	0.13722	N	0.367281	T	0.00012	0.0000	L	0.51422	1.61	0.36618	P	0.12442900000000001	B	0.26602	0.154	B	0.11329	0.006	T	0.08827	-1.0703	9	0.42905	T	0.14	-4.7704	10.8455	0.46741	0.1885:0.8115:0.0:0.0	rs2075352;rs58904160;rs2075352	358	Q93075	TATD2_HUMAN	L	358	ENSP00000287652:P358L;ENSP00000408736:P358L	ENSP00000287652:P358L	P	+	2	0	TATDN2	10286939	0.001000	0.12720	0.936000	0.37596	0.018000	0.09664	0.912000	0.28597	2.353000	0.79882	0.644000	0.83932	CCG	C|0.833;N|0.000	.	strong		0.532	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		T	10311939	C	T	10311939	3	4	22	1	0	0	0	0	1	0	0	0	15589	652	23	1	1083	1	TATDN2	3	10311939	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	327084	10311939	187710491	1978	7086	139	2								
TATDN2	9797	hgsc.bcm.edu	37	chr3	10311949	10311949	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccgttccggagccttcTtccttcaccaccgactatgt					rs145595744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10311949T>C	ENST00000287652.4	+	4	2134	c.1083T>C	c.(1081-1083)tcT>tcC	p.S361S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.S361S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	361					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGGAGCCTTCTTCCTTCACCA	0.522													T|||	18	0.00359425	0.0136	0.0	5008	,	,		20081	0.0		0.0	False		,,,				2504	0.0				p.S361S		Atlas-SNP	.											.	TATDN2	59	.	0			c.T1083C						PASS	.	T		28,4378	34.3+/-65.2	1,26,2176	168	162	164		1083	-5.2	0	3	dbSNP_134	164	0,8600		0,0,4300	no	coding-synonymous	TATDN2	NM_014760.3		1,26,6476	CC,CT,TT		0.0,0.6355,0.2153		361/762	10311949	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	9797	exon4			GCCTTCTTCCTTC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1083T>C	3.37:g.10311949T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	131	80	0.610687	NM_014760	Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	CCDS33698.1																																																																																			T|0.997;C|0.003	0.003	strong		0.522	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		C	10311949	T	C	10311949	2	2	22	1	0	0	0	0	0	0	0	1	15589	1596	56	3		3	TATDN2	3	10311949	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	10311949	187710481	1979	7087	139	2								
TATDN2	9797	hgsc.bcm.edu	37	chr3	10312113	10312113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagcagccggagccgcaTgagtgattattcccccaact	11	12	0	3	rs61730105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10312113T>C	ENST00000287652.4	+	4	2298	c.1247T>C	c.(1246-1248)aTg>aCg	p.M416T	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M416T	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	416					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGGAGCCGCATGAGTGATTAT	0.577													T|||	171	0.0341454	0.121	0.0159	5008	,	,		18447	0.0		0.0	False		,,,				2504	0.0				p.M416T		Atlas-SNP	.											.	TATDN2	59	.	0			c.T1247C						PASS	.	T	THR/MET	464,3942	218.1+/-236.3	25,414,1764	89	89	89		1247	-0.9	0	3	dbSNP_129	89	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TATDN2	NM_014760.3	81	25,417,6061	CC,CT,TT		0.0349,10.5311,3.5907	benign	416/762	10312113	467,12539	2203	4300	6503	SO:0001583	missense	9797	exon4			GCCGCATGAGTGA	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1247T>C	3.37:g.10312113T>C	ENSP00000287652:p.Met416Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	161	87	0.540373	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	74	0.03388278388278388	64	0.13008130081300814	10	0.027624309392265192	0	0.0	0	0.0	T	7.134	0.580500	0.13686	0.105311	3.49E-4	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.32023	1.47;1.47	4.65	-0.863	0.10669	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	8	0.62326	D	0.03	0.6533	1.7362	0.02942	0.1368:0.1699:0.1409:0.5524	rs61730105	416	Q93075	TATD2_HUMAN	T	416	ENSP00000287652:M416T;ENSP00000408736:M416T	ENSP00000287652:M416T	M	+	2	0	TATDN2	10287113	0.011000	0.17503	0.047000	0.18901	0.386000	0.30323	0.184000	0.16939	-0.057000	0.13199	0.524000	0.50904	ATG	T|0.957;C|0.043	0.043	strong		0.577	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		C	10312113	T	C	10312113	3	2	22	1	0	0	0	0	1	0	0	0	15589	1464	51	2	1257	2	TATDN2	3	10312113	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	164	10312113	187710317	1980	7088										
TATDN2	9797	hgsc.bcm.edu	37	chr3	10312534	10312534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgttgaaagaggatctGgtctggggggcctttggctg	18	6	2	2	rs56261813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10312534G>A	ENST00000287652.4	+	4	2719	c.1668G>A	c.(1666-1668)ctG>ctA	p.L556L	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.L556L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	556					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAGAGGATCTGGTCTGGGGGG	0.517													G|||	164	0.0327476	0.1157	0.0159	5008	,	,		19427	0.0		0.0	False		,,,				2504	0.0				p.L556L		Atlas-SNP	.											.	TATDN2	59	.	0			c.G1668A						PASS	.	G		451,3955	209.2+/-230.0	23,405,1775	110	114	112		1668	2.1	1	3	dbSNP_129	112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TATDN2	NM_014760.3		23,408,6072	AA,AG,GG		0.0349,10.236,3.4907		556/762	10312534	454,12552	2203	4300	6503	SO:0001819	synonymous_variant	9797	exon4			GGATCTGGTCTGG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1668G>A	3.37:g.10312534G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	108	54	0.5	NM_014760	Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	CCDS33698.1																																																																																			G|0.960;A|0.040	0.040	strong		0.517	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		A	10312534	G	A	10312534	2	1	22	1	0	0	0	0	0	0	0	1	15589	1335	47	2		2	TATDN2	3	10312534	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	421	10312534	187709896	1981	7089										
ATP2B2	491	hgsc.bcm.edu	37	chr3	10413715	10413715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatccaggtggcgtaccagGttgttgtccttcatcatttt	10	10	2	0	rs2289274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10413715G>A	ENST00000352432.4	-	11	1506	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N	ATP2B2_ENST00000360273.2_Silent_p.N479N|ATP2B2_ENST00000343816.4_Silent_p.N465N|ATP2B2_ENST00000397077.1_Silent_p.N434N|ATP2B2_ENST00000383800.4_Silent_p.N434N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	479					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)	p.N434N(1)		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						GGCGTACCAGGTTGTTGTCCT	0.582													G|||	1387	0.276957	0.1324	0.3256	5008	,	,		19783	0.3323		0.3002	False		,,,				2504	0.3569				p.N479N	Ovarian(125;1619 1709 15675 19819 38835)	Atlas-SNP	.											ATP2B2_ENST00000360273,right_lower_lobe,carcinoma,-1,3	ATP2B2	304	3	1	Substitution - coding silent(1)	stomach(1)	c.C1437T						PASS	.	G	,	698,3708	291.8+/-281.7	58,582,1563	141	121	128		1437,1302	3.8	1	3	dbSNP_100	128	2656,5944	427.2+/-355.5	432,1792,2076	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	490,2374,3639	AA,AG,GG		30.8837,15.842,25.7881	,	479/1244,434/1199	10413715	3354,9652	2203	4300	6503	SO:0001819	synonymous_variant	491	exon12			TACCAGGTTGTTG	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.1437C>T	3.37:g.10413715G>A		Somatic	261	1	0.00383142		WXS	Illumina HiSeq	Phase_I	296	143	0.483108	NM_001001331	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																			G|0.752;A|0.248	0.248	strong		0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10413715	G	A	10413715	2	1	22	1	0	0	0	0	0	0	0	1	1140	1252	44	2		2	ATP2B2	3	10413715	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101181	10413715	187608715	1982	7090										
SLC6A11	6538	hgsc.bcm.edu	37	chr3	10885920	10885920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgggtcctggccatctcTgacgggatcgagcacatcgg	13	14	1	1	rs2304725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10885920T>C	ENST00000254488.2	+	5	711	c.645T>C	c.(643-645)tcT>tcC	p.S215S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	215					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGGCCATCTCTGACGGGATCG	0.597													t|||	1874	0.374201	0.3011	0.2161	5008	,	,		19545	0.4276		0.325	False		,,,				2504	0.5808				p.S215S		Atlas-SNP	.											SLC6A11,NS,adenoma,0,1	SLC6A11	87	1	0			c.T645C						PASS	.	T		1369,3037	453.8+/-350.4	214,941,1048	100	86	91		645	-11.5	0	3	dbSNP_100	91	2893,5707	454.0+/-363.4	495,1903,1902	yes	coding-synonymous	SLC6A11	NM_014229.1		709,2844,2950	CC,CT,TT		33.6395,31.0713,32.7695		215/633	10885920	4262,8744	2203	4300	6503	SO:0001819	synonymous_variant	6538	exon5			CATCTCTGACGGG	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.645T>C	3.37:g.10885920T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	158	70	0.443038	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																			T|0.655;C|0.345	0.345	strong		0.597	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		C	10885920	T	C	10885920	2	2	22	1	0	0	0	0	0	0	0	1	14674	1567	55	3		3	SLC6A11	3	10885920	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	472205	10885920	187136510	1983	7091										
SLC6A11	6538	hgsc.bcm.edu	37	chr3	10976876	10976876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtggaagacggaggggacActgcccgaggtgagaccgcc	18	10	0	2	rs2245532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:10976876A>G	ENST00000254488.2	+	13	1803	c.1737A>G	c.(1735-1737)acA>acG	p.T579T		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	579					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CGGAGGGGACACTGCCCGAGG	0.642													G|||	1677	0.334864	0.5363	0.2954	5008	,	,		18258	0.1012		0.4254	False		,,,				2504	0.2382				p.T579T		Atlas-SNP	.											.	SLC6A11	87	.	0			c.A1737G						PASS	.	G		2318,2088	573.2+/-383.5	592,1134,477	104	100	101		1737	-8.4	0	3	dbSNP_100	101	3523,5077	632.1+/-398.6	741,2041,1518	no	coding-synonymous	SLC6A11	NM_014229.1		1333,3175,1995	GG,GA,AA		40.9651,47.3899,44.91		579/633	10976876	5841,7165	2203	4300	6503	SO:0001819	synonymous_variant	6538	exon13			GGGGACACTGCCC	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1737A>G	3.37:g.10976876A>G		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	184	90	0.48913	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																			A|0.595;G|0.405	0.405	strong		0.642	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		G	10976876	A	G	10976876	2	3	22	1	0	0	0	0	0	0	0	1	14674	146	6	2		2	SLC6A11	3	10976876	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	90956	10976876	187045554	1984	7092										
TSEN2	80746	hgsc.bcm.edu	37	chr3	12531421	12531421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagaattcaagatattccGtgctgaaatgattaacaaca	7	6	1	4	rs12495784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:12531421G>A	ENST00000284995.6	+	2	509	c.122G>A	c.(121-123)cGt>cAt	p.R41H	TSEN2_ENST00000402228.3_Missense_Mutation_p.R41H|TSEN2_ENST00000314571.7_Missense_Mutation_p.R41H|TSEN2_ENST00000444864.1_Missense_Mutation_p.R41H|TSEN2_ENST00000383797.5_Missense_Mutation_p.R41H|TSEN2_ENST00000454502.2_Missense_Mutation_p.R41H|TSEN2_ENST00000415684.1_Missense_Mutation_p.R41H	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	41			R -> H (in dbSNP:rs12495784).		mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AAGATATTCCGTGCTGAAATG	0.443													G|||	470	0.0938498	0.2118	0.0865	5008	,	,		21589	0.0298		0.0239	False		,,,				2504	0.0777				p.R41H		Atlas-SNP	.											.	TSEN2	46	.	0			c.G122A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	699,3707		41,617,1545	122	115	117		122,122,122,122,122	-1.6	0	3	dbSNP_120	117	120,8480		3,114,4183	yes	missense,missense,missense,missense,missense	TSEN2	NM_001145392.1,NM_001145393.1,NM_001145394.1,NM_001145395.1,NM_025265.3	29,29,29,29,29	44,731,5728	AA,AG,GG		1.3953,15.8647,6.2971	benign,benign,benign,benign,benign	41/466,41/440,41/407,41/403,41/466	12531421	819,12187	2203	4300	6503	SO:0001583	missense	80746	exon2			TATTCCGTGCTGA	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.122G>A	3.37:g.12531421G>A	ENSP00000284995:p.Arg41His	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	81	36	0.444444	NM_001145394	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	CCDS2611.1	158	0.07234432234432235	106	0.21544715447154472	25	0.06906077348066299	12	0.02097902097902098	15	0.01978891820580475	.	5.732	0.319584	0.10845	0.158647	0.013953	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.58060	0.36;0.37;0.4;0.4;0.4;0.4;0.36;0.37	5.7	-1.6	0.08426	.	0.475201	0.21511	N	0.073377	T	0.00012	0.0000	N	0.20986	0.625	0.58432	P	2.9999999999752447E-6	B;B;B;B	0.28820	0.224;0.033;0.074;0.019	B;B;B;B	0.28305	0.088;0.013;0.054;0.007	T	0.17137	-1.0379	9	0.27785	T	0.31	-1.3989	7.2163	0.25961	0.5134:0.1249:0.3617:0.0	rs12495784;rs12495784	41;41;41;41	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	H	41	ENSP00000406238:R41H;ENSP00000323188:R41H;ENSP00000392029:R41H;ENSP00000373307:R41H;ENSP00000385976:R41H;ENSP00000284995:R41H;ENSP00000407974:R41H;ENSP00000416510:R41H	ENSP00000284995:R41H	R	+	2	0	TSEN2	12506421	0.003000	0.15002	0.005000	0.12908	0.030000	0.12068	-0.176000	0.09811	-0.377000	0.07930	-1.769000	0.00663	CGT	A|0.068;G|0.932	0.068	strong		0.443	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		A	12531421	G	A	12531421	3	1	22	1	0	0	0	0	1	0	0	0	16609	1145	40	1	124	1	TSEN2	3	12531421	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1554545	12531421	185491009	1985	7093										
CAND2	23066	hgsc.bcm.edu	37	chr3	12848822	12848822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctgggtcctctggtggTcaaagtgaaggagtaccagg	15	9	2	1	rs11718898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:12848822T>C	ENST00000456430.2	+	3	271	c.230T>C	c.(229-231)gTc>gCc	p.V77A	CAND2_ENST00000466558.1_3'UTR|CAND2_ENST00000295989.5_Intron	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	77					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTCTGGTGGTCAAAGTGAAG	0.582													C|||	3002	0.599441	0.9735	0.5115	5008	,	,		19788	0.2907		0.7008	False		,,,				2504	0.3701				p.V77A	GBM(43;676 868 1633 6395 37496)	Atlas-SNP	.											.	CAND2	138	.	0			c.T230C						PASS	.	C	ALA/VAL,	1281,103		591,99,2	89	89	89		230,	3.8	1	3	dbSNP_120	89	2100,1082		695,710,186	yes	missense,intron	CAND2	NM_001162499.1,NM_012298.2	64,	1286,809,188	CC,CT,TT		34.0038,7.4422,25.9527	benign,	77/1237,	12848822	3381,1185	692	1591	2283	SO:0001583	missense	23066	exon3			TGGTGGTCAAAGT		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.230T>C	3.37:g.12848822T>C	ENSP00000387641:p.Val77Ala	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	193	193	1	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	1330	0.6089743589743589	471	0.9573170731707317	185	0.511049723756906	150	0.26223776223776224	524	0.6912928759894459	C	13.80	2.345690	0.41498	0.925578	0.659962	ENSG00000144712	ENST00000456430	T	0.64438	-0.1	5.63	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.9999999999999998	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	8	0.09843	T	0.71	-6.7597	5.7286	0.18026	0.0764:0.1413:0.6371:0.1452	rs11718898;rs17773733;rs56779280;rs11718898	77	O75155	CAND2_HUMAN	A	77	ENSP00000387641:V77A	ENSP00000387641:V77A	V	+	2	0	CAND2	12823822	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.661000	0.68025	0.763000	0.33175	-0.936000	0.02699	GTC	C|0.622;N|0.000	0.622	strong		0.582	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		C	12848822	T	C	12848822	3	2	22	1	0	0	0	0	1	0	0	0	2616	1667	58	2	240	2	CAND2	3	12848822	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	317401	12848822	185173608	1986	7094										
CAND2	23066	hgsc.bcm.edu	37	chr3	12856856	12856856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgctgctgcggcaaacacAgcccccgaagggatggctgg	15	13	0	0	rs2305398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:12856856A>G	ENST00000456430.2	+	8	1264	c.1223A>G	c.(1222-1224)cAg>cGg	p.Q408R	CAND2_ENST00000295989.5_Missense_Mutation_p.Q315R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	408			Q -> R (in dbSNP:rs2305398). {ECO:0000269|PubMed:9734811}.		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGCAAACACAGCCCCCGAAG	0.617													G|||	2887	0.576478	0.972	0.4986	5008	,	,		20497	0.2907		0.6551	False		,,,				2504	0.3108				p.Q408R	GBM(43;676 868 1633 6395 37496)	Atlas-SNP	.											.	CAND2	138	.	0			c.A1223G						PASS	.	G	ARG/GLN,ARG/GLN	3844,376		1752,340,18	46	54	51		1223,944	3.8	1	3	dbSNP_100	51	5225,3213		1621,1983,615	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	43,43	3373,2323,633	GG,GA,AA		38.0777,8.91,28.3536	benign,benign	408/1237,315/1120	12856856	9069,3589	2110	4219	6329	SO:0001583	missense	23066	exon8			AAACACAGCCCCC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1223A>G	3.37:g.12856856A>G	ENSP00000387641:p.Gln408Arg	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	264	264	1	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	1283	0.5874542124542125	469	0.9532520325203252	180	0.4972375690607735	150	0.26223776223776224	484	0.6385224274406333	G	0.066	-1.213618	0.01555	0.9109	0.619223	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64991	-0.13;-0.13	4.86	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.296572	0.26016	N	0.026849	T	0.00012	0.0000	N	0.00399	-1.545	0.09310	P	0.999996978	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36504	-0.9745	9	0.07482	T	0.82	-22.8675	7.173	0.25728	0.2702:0.0:0.7298:0.0	rs2305398;rs17824975;rs59611646;rs2305398	408;315	O75155;O75155-2	CAND2_HUMAN;.	R	315;408	ENSP00000295989:Q315R;ENSP00000387641:Q408R	ENSP00000295989:Q315R	Q	+	2	0	CAND2	12831856	0.994000	0.37717	0.955000	0.39395	0.098000	0.18820	0.601000	0.24119	1.046000	0.40249	-0.215000	0.12644	CAG	G|0.597;N|0.001	0.597	strong		0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		G	12856856	A	G	12856856	3	3	22	1	0	0	0	0	1	0	0	0	2616	188	7	3	1253	3	CAND2	3	12856856	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8034	12856856	185165574	1987	7095										
CAND2	23066	hgsc.bcm.edu	37	chr3	12858028	12858028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatggcctgtgtggctgacTctttctacaagattgcagcc	11	10	2	3	rs3732675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:12858028T>C	ENST00000456430.2	+	10	1638	c.1597T>C	c.(1597-1599)Tct>Cct	p.S533P	CAND2_ENST00000295989.5_Missense_Mutation_p.S440P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	533			S -> P (in dbSNP:rs3732675).		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGTGGCTGACTCTTTCTACAA	0.637													C|||	3025	0.604034	0.9584	0.4914	5008	,	,		18601	0.4365		0.6243	False		,,,				2504	0.3569				p.S533P	GBM(43;676 868 1633 6395 37496)	Atlas-SNP	.											CAND2_ENST00000456430,NS,carcinoma,0,2	CAND2	138	2	0			c.T1597C						PASS	.	C	PRO/SER,PRO/SER	3700,460		1648,404,28	39	44	43		1597,1318	4.2	1	3	dbSNP_107	43	4931,3475		1439,2053,711	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	74,74	3087,2457,739	CC,CT,TT		41.3395,11.0577,31.3147	benign,benign	533/1237,440/1120	12858028	8631,3935	2080	4203	6283	SO:0001583	missense	23066	exon10			GCTGACTCTTTCT		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1597T>C	3.37:g.12858028T>C	ENSP00000387641:p.Ser533Pro	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	1331	0.6094322344322345	468	0.9512195121951219	173	0.47790055248618785	226	0.3951048951048951	464	0.6121372031662269	C	1.795	-0.478506	0.04414	0.889423	0.586605	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.63744	-0.06;-0.06	5.12	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	0.204228	0.42682	N	0.000667	T	0.00012	0.0000	N	0.01086	-1.025	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42103	-0.9471	9	0.02654	T	1	-27.0988	7.3268	0.26560	0.0:0.7304:0.0:0.2696	rs3732675;rs17825071;rs60814914;rs3732675	533;440	O75155;O75155-2	CAND2_HUMAN;.	P	440;533	ENSP00000295989:S440P;ENSP00000387641:S533P	ENSP00000295989:S440P	S	+	1	0	CAND2	12833028	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.701000	0.37825	0.577000	0.29470	-0.215000	0.12644	TCT	C|0.609;G|0.000;T|0.391	0.609	strong		0.637	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		C	12858028	T	C	12858028	3	2	22	1	0	0	0	0	1	0	0	0	2616	1551	54	3	1635	3	CAND2	3	12858028	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1172	12858028	185164402	1988	7096										
CAND2	23066	hgsc.bcm.edu	37	chr3	12859004	12859004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggtggctgggccaggccAccagcgggagctgaaggcgg	19	11	1	1	rs3732678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:12859004A>C	ENST00000456430.2	+	10	2614	c.2573A>C	c.(2572-2574)cAc>cCc	p.H858P	CAND2_ENST00000295989.5_Missense_Mutation_p.H765P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	858			H -> P (in dbSNP:rs3732678). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGCCAGGCCACCAGCGGGAG	0.672													C|||	2866	0.572284	0.9713	0.4755	5008	,	,		18610	0.2897		0.6382	False		,,,				2504	0.3252				p.H858P	GBM(43;676 868 1633 6395 37496)	Atlas-SNP	.											.	CAND2	138	.	0			c.A2573C						PASS	.	C	PRO/HIS,PRO/HIS	3695,385		1677,341,22	42	52	49		2573,2294	3.9	1	3	dbSNP_107	49	5012,3388		1488,2036,676	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	77,77	3165,2377,698	CC,CA,AA		40.3333,9.4363,30.2324	benign,benign	858/1237,765/1120	12859004	8707,3773	2040	4200	6240	SO:0001583	missense	23066	exon10			CAGGCCACCAGCG		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2573A>C	3.37:g.12859004A>C	ENSP00000387641:p.His858Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	1251	0.5728021978021978	464	0.943089430894309	168	0.46408839779005523	148	0.25874125874125875	471	0.6213720316622692	C	6.595	0.478073	0.12521	0.905637	0.596667	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64618	-0.11;-0.11	4.83	3.88	0.44766	Armadillo-like helical (1);Armadillo-type fold (1);	0.556756	0.16689	N	0.203605	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.99999999053269	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31971	-0.9924	9	0.29301	T	0.29	-12.7469	10.5248	0.44941	0.4804:0.5196:0.0:0.0	rs3732678;rs57480491	858;765	O75155;O75155-2	CAND2_HUMAN;.	P	765;858	ENSP00000295989:H765P;ENSP00000387641:H858P	ENSP00000295989:H765P	H	+	2	0	CAND2	12834004	0.991000	0.36638	1.000000	0.80357	0.980000	0.70556	2.850000	0.48294	1.150000	0.42419	-0.217000	0.12591	CAC	A|0.402;C|0.597;G|0.000	0.597	strong		0.672	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		C	12859004	A	C	12859004	3	2	22	1	0	0	0	0	1	0	0	0	2616	159	6	5	2611	5	CAND2	3	12859004	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	976	12859004	185163426	1989	7097										
FBLN2	2199	hgsc.bcm.edu	37	chr3	13649665	13649665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtggcactgaggacaaCgtctgcaggtagggtgggct	18	7	1	2	rs13327200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:13649665C>T	ENST00000295760.7	+	3	1479	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	FBLN2_ENST00000535798.1_Silent_p.N496N|FBLN2_ENST00000492059.1_Silent_p.N470N|FBLN2_ENST00000404922.3_Silent_p.N470N	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	470	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGAGGACAACGTCTGCAGGT	0.632													C|||	454	0.090655	0.3222	0.0389	5008	,	,		20343	0.0		0.001	False		,,,				2504	0.0				p.N470N		Atlas-SNP	.											.	FBLN2	137	.	0			c.C1410T						PASS	.	C	,,	979,3341		108,763,1289	56	61	59		1410,1410,1410	-1.4	0	3	dbSNP_121	59	11,8503		0,11,4246	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	108,774,5535	TT,TC,CC		0.1292,22.662,7.7139	,,	470/1232,470/1232,470/1185	13649665	990,11844	2160	4257	6417	SO:0001819	synonymous_variant	2199	exon3			GGACAACGTCTGC	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1410C>T	3.37:g.13649665C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	89	38	0.426966	NM_001998	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																			C|0.911;T|0.089	0.089	strong		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13649665	C	T	13649665	2	4	22	1	0	0	0	0	0	0	0	1	5699	535	19	1		1	FBLN2	3	13649665	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	790661	13649665	184372765	1990	7098										
FBLN2	2199	hgsc.bcm.edu	37	chr3	13671402	13671402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcctaccgctgttcctgCgcctccgggttcctgctagc	11	17	0	0	rs41283999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:13671402C>T	ENST00000295760.7	+	13	2853	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	FBLN2_ENST00000535798.1_Silent_p.C954C|FBLN2_ENST00000492059.1_Silent_p.C975C|FBLN2_ENST00000404922.3_Silent_p.C975C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	928	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTGTTCCTGCGCCTCCGGGT	0.647													C|||	193	0.0385383	0.1369	0.0159	5008	,	,		19750	0.0		0.001	False		,,,				2504	0.0				p.C975C		Atlas-SNP	.											.	FBLN2	137	.	0			c.C2925T						PASS	.	C	,,	426,3860		15,396,1732	21	25	24		2925,2925,2784	-1.2	0.2	3	dbSNP_127	24	4,8484		0,4,4240	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	15,400,5972	TT,TC,CC		0.0471,9.9393,3.3662	,,	975/1232,975/1232,928/1185	13671402	430,12344	2143	4244	6387	SO:0001819	synonymous_variant	2199	exon14			TTCCTGCGCCTCC	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2784C>T	3.37:g.13671402C>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	164	78	0.47561	NM_001004019	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																			C|0.965;T|0.035	0.035	strong		0.647	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13671402	C	T	13671402	2	4	22	1	0	0	0	0	0	0	0	1	5699	776	27	1		1	FBLN2	3	13671402	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21737	13671402	184351028	1991	7099										
FBLN2	2199	hgsc.bcm.edu	37	chr3	13679203	13679203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccccgcgccagccttcacGggggacaccatcgccctgaa	12	18	1	1	rs1061375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:13679203G>A	ENST00000295760.7	+	17	3408	c.3339G>A	c.(3337-3339)acG>acA	p.T1113T	FBLN2_ENST00000535798.1_Silent_p.T1139T|FBLN2_ENST00000492059.1_Silent_p.T1160T|FBLN2_ENST00000404922.3_Silent_p.T1160T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1113	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CAGCCTTCACGGGGGACACCA	0.627													G|||	2583	0.515775	0.764	0.3876	5008	,	,		20113	0.6369		0.3231	False		,,,				2504	0.3446				p.T1160T		Atlas-SNP	.											.	FBLN2	137	.	0			c.G3480A						PASS	.	G	,,	2780,1502		926,928,287	44	49	48		3480,3480,3339	-6.8	0.7	3	dbSNP_86	48	2542,5918		391,1760,2079	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	1317,2688,2366	AA,AG,GG		30.0473,35.0771,41.7674	,,	1160/1232,1160/1232,1113/1185	13679203	5322,7420	2141	4230	6371	SO:0001819	synonymous_variant	2199	exon18			CTTCACGGGGGAC	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3339G>A	3.37:g.13679203G>A		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	233	123	0.527897	NM_001004019	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																			G|0.494;A|0.506	0.506	strong		0.627	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13679203	G	A	13679203	2	1	22	1	0	0	0	0	0	0	0	1	5699	1103	39	1		1	FBLN2	3	13679203	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7801	13679203	184343227	1992	7100										
FBLN2	2199	hgsc.bcm.edu	37	chr3	13679335	13679335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgggactttgccctggaCgtggagatgaagctctggag	15	11	1	2	rs1061376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:13679335C>T	ENST00000295760.7	+	17	3540	c.3471C>T	c.(3469-3471)gaC>gaT	p.D1157D	FBLN2_ENST00000404922.3_Silent_p.D1204D|FBLN2_ENST00000492059.1_Silent_p.D1204D|FBLN2_ENST00000535798.1_Silent_p.D1183D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1157	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TTGCCCTGGACGTGGAGATGA	0.632													C|||	2478	0.494808	0.6876	0.3761	5008	,	,		18377	0.6399		0.3241	False		,,,				2504	0.3446				p.D1204D		Atlas-SNP	.											.	FBLN2	137	.	0			c.C3612T						PASS	.	C	,,	2345,1769		693,959,405	97	108	105		3612,3612,3471	-1.8	1	3	dbSNP_86	105	2510,5894		385,1740,2077	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	1078,2699,2482	TT,TC,CC		29.8667,42.9995,38.7842	,,	1204/1232,1204/1232,1157/1185	13679335	4855,7663	2057	4202	6259	SO:0001819	synonymous_variant	2199	exon18			CCTGGACGTGGAG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3471C>T	3.37:g.13679335C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	147	81	0.55102	NM_001004019	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																			C|0.518;N|0.000	.	strong		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13679335	C	T	13679335	2	4	22	1	0	0	0	0	0	0	0	1	5699	535	19	1		1	FBLN2	3	13679335	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	132	13679335	184343095	1993	7101										
C3orf20	84077	hgsc.bcm.edu	37	chr3	14745857	14745857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcagagaagctgaaaggGccacatggaaagggaggaat	15	6	1	2	rs17040196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:14745857G>A	ENST00000253697.3	+	7	1344	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	C3orf20_ENST00000435614.1_Missense_Mutation_p.A176T|C3orf20_ENST00000412910.1_Missense_Mutation_p.A176T	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	298			A -> T (in dbSNP:rs17040196). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCTGAAAGGGCCACATGGAA	0.493													G|||	1888	0.376997	0.4236	0.4553	5008	,	,		20715	0.3155		0.4175	False		,,,				2504	0.2802				p.A298T		Atlas-SNP	.											.	C3orf20	109	.	0			c.G892A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	1898,2508	544.5+/-376.5	425,1048,730	77	79	78		526,526,892	-3	0	3	dbSNP_123	78	3657,4943	526.6+/-381.0	788,2081,1431	yes	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	58,58,58	1213,3129,2161	AA,AG,GG		42.5233,43.0776,42.7111	benign,benign,benign	176/783,176/783,298/905	14745857	5555,7451	2203	4300	6503	SO:0001583	missense	84077	exon7			GAAAGGGCCACAT	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.892G>A	3.37:g.14745857G>A	ENSP00000253697:p.Ala298Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	93	36	0.387097	NM_032137	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	885	0.4052197802197802	231	0.4695121951219512	157	0.43370165745856354	179	0.3129370629370629	318	0.41952506596306066	G	0.390	-0.923774	0.02377	0.430776	0.425233	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08008	3.43;3.14;3.14	4.91	-3.04	0.05412	.	1.522830	0.03923	N	0.283896	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.16396	0.017	B	0.14578	0.011	T	0.46898	-0.9158	9	0.13108	T	0.6	-1.9366	10.7852	0.46401	0.6556:0.0:0.3444:0.0	rs17040196;rs17852773;rs52799567;rs59251381;rs17040196	298	Q8ND61	CC020_HUMAN	T	298;176;176	ENSP00000253697:A298T;ENSP00000402933:A176T;ENSP00000396081:A176T	ENSP00000253697:A298T	A	+	1	0	C3orf20	14720861	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.499000	0.06413	-0.525000	0.06391	-0.225000	0.12378	GCC	G|0.588;A|0.412	0.412	strong		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14745857	G	A	14745857	3	1	22	1	0	0	0	0	1	0	0	0	2213	1203	42	2	910	2	C3orf20	3	14745857	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1066522	14745857	183276573	1994	7102										
C3orf20	84077	hgsc.bcm.edu	37	chr3	14755617	14755617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggattctccttgctggccCtattcaatactgaaggccag	9	12	2	1	rs6790129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:14755617C>G	ENST00000253697.3	+	8	1716	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	C3orf20_ENST00000435614.1_Missense_Mutation_p.L300V|C3orf20_ENST00000412910.1_Missense_Mutation_p.L300V|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	422			L -> V (in dbSNP:rs6790129). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTTGCTGGCCCTATTCAATAC	0.502													C|||	1898	0.378994	0.4244	0.4568	5008	,	,		21186	0.3234		0.4175	False		,,,				2504	0.2802				p.L422V		Atlas-SNP	.											.	C3orf20	109	.	0			c.C1264G						PASS	.	C	VAL/LEU,VAL/LEU,VAL/LEU	1899,2507	544.0+/-376.4	426,1047,730	94	85	88		898,898,1264	1.6	0.9	3	dbSNP_116	88	3660,4940	526.9+/-381.1	789,2082,1429	yes	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	32,32,32	1215,3129,2159	GG,GC,CC		42.5581,43.1003,42.7418	probably-damaging,probably-damaging,probably-damaging	300/783,300/783,422/905	14755617	5559,7447	2203	4300	6503	SO:0001583	missense	84077	exon8			CTGGCCCTATTCA	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1264C>G	3.37:g.14755617C>G	ENSP00000253697:p.Leu422Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	135	71	0.525926	NM_032137	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	893	0.4088827838827839	231	0.4695121951219512	158	0.43646408839779005	186	0.32517482517482516	318	0.41952506596306066	C	14.99	2.701572	0.48307	0.431003	0.425581	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.13901	2.55;2.55;2.55	5.56	1.57	0.23409	.	0.000000	0.39544	N	0.001330	T	0.00012	0.0000	M	0.61703	1.905	0.37651	P	0.07758200000000004	P	0.46142	0.873	P	0.45681	0.49	T	0.45160	-0.9280	9	0.30078	T	0.28	-9.4692	2.0532	0.03575	0.1608:0.5113:0.1558:0.172	rs6790129;rs17856869;rs56928522;rs6790129	422	Q8ND61	CC020_HUMAN	V	422;300;300	ENSP00000253697:L422V;ENSP00000402933:L300V;ENSP00000396081:L300V	ENSP00000253697:L422V	L	+	1	2	C3orf20	14730621	0.773000	0.28580	0.948000	0.38648	0.746000	0.42486	-0.090000	0.11163	0.306000	0.22856	0.591000	0.81541	CTA	C|0.582;G|0.418	0.418	strong		0.502	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		G	14755617	C	G	14755617	3	3	22	1	0	0	0	0	1	0	0	0	2213	680	24	4	1286	4	C3orf20	3	14755617	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9760	14755617	183266813	1995	7103										
EAF1	85403	hgsc.bcm.edu	37	chr3	15476011	15476011	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcccttgaaagataacccCtcacctgaacctcagttgga	6	14	3	3	rs1563415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:15476011C>G	ENST00000396842.2	+	4	917	c.492C>G	c.(490-492)ccC>ccG	p.P164P	EAF1_ENST00000432764.2_Silent_p.P63P|EAF1-AS1_ENST00000597949.1_RNA|RNU6-1024P_ENST00000384199.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	164	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						AAGATAACCCCTCACCTGAAC	0.478													C|||	1040	0.207668	0.0144	0.2363	5008	,	,		19515	0.2917		0.2485	False		,,,				2504	0.32				p.P164P		Atlas-SNP	.											.	EAF1	16	.	0			c.C492G						PASS	.	C		245,4161	142.7+/-177.9	6,233,1964	231	218	222		492	0.2	1	3	dbSNP_88	222	2268,6332	384.1+/-341.0	278,1712,2310	no	coding-synonymous	EAF1	NM_033083.6		284,1945,4274	GG,GC,CC		26.3721,5.5606,19.3219		164/269	15476011	2513,10493	2203	4300	6503	SO:0001819	synonymous_variant	85403	exon4			TAACCCCTCACCT	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.492C>G	3.37:g.15476011C>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_033083	B4E3F5|Q8IW10	Silent	SNP	ENST00000396842.2	37	CCDS2626.1																																																																																			C|0.796;G|0.204	0.204	strong		0.478	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4	NM_033083		G	15476011	C	G	15476011	2	3	22	1	0	0	0	0	0	0	0	1	4875	668	24	4		4	EAF1	3	15476011	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	720394	15476011	182546419	1996	7104										
ANKRD28	23243	hgsc.bcm.edu	37	chr3	15807763	15807763	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gataaaataagaagttcaatGatttctgcatctccaaggta	7	6	3	2	rs185386403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:15807763G>A	ENST00000399451.2	-	3	535	c.168C>T	c.(166-168)atC>atT	p.I56I	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.I89I	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	56						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GAAGTTCAATGATTTCTGCAT	0.328													G|||	13	0.00259585	0.0008	0.0058	5008	,	,		16531	0.0		0.005	False		,,,				2504	0.0031				p.I56I		Atlas-SNP	.											.	ANKRD28	121	.	0			c.C168T						PASS	.	G	,	4,3682		0,4,1839	71	70	70		,168	0.8	1	3		70	65,8087		1,63,4012	no	utr-5,coding-synonymous	ANKRD28	NM_001195098.1,NM_015199.3	,	1,67,5851	AA,AG,GG		0.7974,0.1085,0.5829	,	,56/1054	15807763	69,11769	1843	4076	5919	SO:0001819	synonymous_variant	23243	exon3			TTCAATGATTTCT	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.168C>T	3.37:g.15807763G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	50	19	0.38	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																			G|0.996;A|0.004	0.004	strong		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		A	15807763	G	A	15807763	2	1	22	1	0	0	0	0	0	0	0	1	656	1280	45	2		2	ANKRD28	3	15807763	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	331752	15807763	182214667	1997	7105										
OXNAD1	92106	hgsc.bcm.edu	37	chr3	16327909	16327909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgtcagtgaagagcctcCgcttgcttgttgctgatcaa	10	12	2	3	rs6777976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:16327909C>T	ENST00000285083.5	+	5	709	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	OXNAD1_ENST00000544043.1_Missense_Mutation_p.R100C|OXNAD1_ENST00000435829.2_Missense_Mutation_p.R100C|OXNAD1_ENST00000605932.1_Missense_Mutation_p.R82C|OXNAD1_ENST00000606098.1_Missense_Mutation_p.R82C	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	82	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		R -> C (in dbSNP:rs6777976). {ECO:0000269|Ref.3}.			mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GAAGAGCCTCCGCTTGCTTGT	0.463													C|||	888	0.177316	0.2663	0.1081	5008	,	,		19351	0.1696		0.162	False		,,,				2504	0.1299				p.R82C		Atlas-SNP	.											OXNAD1,NS,carcinoma,-1,1	OXNAD1	31	1	0			c.C244T						PASS	.	C	CYS/ARG	1023,3383	378.0+/-322.7	105,813,1285	239	200	214		244	4.4	0.8	3	dbSNP_116	214	1220,7380	245.4+/-274.3	91,1038,3171	yes	missense	OXNAD1	NM_138381.3	180	196,1851,4456	TT,TC,CC		14.186,23.2183,17.2459	benign	82/313	16327909	2243,10763	2203	4300	6503	SO:0001583	missense	92106	exon5			AGCCTCCGCTTGC	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.244C>T	3.37:g.16327909C>T	ENSP00000285083:p.Arg82Cys	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	221	105	0.475113	NM_138381	Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	CCDS2630.1	401	0.18360805860805862	133	0.2703252032520325	40	0.11049723756906077	110	0.19230769230769232	118	0.15567282321899736	C	13.27	2.185915	0.38609	0.232183	0.14186	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.15834	2.39;2.39;2.39	5.26	4.38	0.52667	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.144057	0.64402	N	0.000009	T	0.00012	0.0000	M	0.83384	2.64	0.09310	P	0.999999804086	B;B	0.17038	0.02;0.006	B;B	0.14578	0.011;0.003	T	0.15378	-1.0439	9	0.39692	T	0.17	-8.4499	13.8797	0.63676	0.0:0.9255:0.0:0.0745	rs6777976;rs61694623;rs6777976	100;82	F5H620;Q96HP4	.;OXND1_HUMAN	C	82;82;100	ENSP00000285083:R82C;ENSP00000389872:R82C;ENSP00000437967:R100C	ENSP00000285083:R82C	R	+	1	0	OXNAD1	16302913	0.001000	0.12720	0.824000	0.32777	0.610000	0.37248	0.332000	0.19751	1.204000	0.43247	0.655000	0.94253	CGC	C|0.824;T|0.176	0.176	strong		0.463	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		T	16327909	C	T	16327909	3	4	22	1	0	0	0	0	1	0	0	0	11333	652	23	1	254	1	OXNAD1	3	16327909	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	520146	16327909	181694521	1998	7106										
RFTN1	23180	hgsc.bcm.edu	37	chr3	16358584	16358584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccctcctgctgctgtccTgaaacacagtttcccatgtc	6	17	0	1	rs690241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:16358584T>C	ENST00000334133.4	-	10	1760	c.1488A>G	c.(1486-1488)tcA>tcG	p.S496S	OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000432519.1_Silent_p.S460S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	496					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTGCTGTCCTGAAACACAGT	0.527													C|||	2878	0.574681	0.7375	0.5346	5008	,	,		19821	0.5099		0.5596	False		,,,				2504	0.4652				p.S496S		Atlas-SNP	.											.	RFTN1	79	.	0			c.A1488G						PASS	.	C		3038,1368	452.2+/-349.9	1058,922,223	131	121	124		1488	-9.7	0	3	dbSNP_83	124	4836,3764	535.6+/-382.8	1364,2108,828	no	coding-synonymous	RFTN1	NM_015150.1		2422,3030,1051	CC,CT,TT		43.7674,31.0486,39.4587		496/579	16358584	7874,5132	2203	4300	6503	SO:0001819	synonymous_variant	23180	exon10			CTGTCCTGAAACA	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1488A>G	3.37:g.16358584T>C		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	CCDS33712.1																																																																																			T|0.400;C|0.600	0.600	strong		0.527	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		C	16358584	T	C	16358584	2	2	22	1	0	0	0	0	0	0	0	1	13258	1567	55	3		3	RFTN1	3	16358584	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30675	16358584	181663846	1999	7107										
RFTN1	23180	hgsc.bcm.edu	37	chr3	16364954	16364954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaatctgcttggtggataCactcccctcgctgtaacaca	8	13	1	0	rs11554130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:16364954C>T	ENST00000334133.4	-	9	1533	c.1261G>A	c.(1261-1263)Gta>Ata	p.V421I	OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.V385I	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	421			V -> I (in dbSNP:rs11554130). {ECO:0000269|Ref.1}.		B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTGGTGGATACACTCCCCTCG	0.448													C|||	992	0.198083	0.5204	0.1124	5008	,	,		20261	0.0258		0.1551	False		,,,				2504	0.045				p.V421I		Atlas-SNP	.											.	RFTN1	79	.	0			c.G1261A						PASS	.	C	ILE/VAL	1971,2435	555.4+/-379.2	439,1093,671	103	92	96		1261	0.1	0	3	dbSNP_120	96	1230,7370	246.2+/-274.8	93,1044,3163	yes	missense	RFTN1	NM_015150.1	29	532,2137,3834	TT,TC,CC		14.3023,44.7345,24.6117	possibly-damaging	421/579	16364954	3201,9805	2203	4300	6503	SO:0001583	missense	23180	exon9			TGGATACACTCCC	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1261G>A	3.37:g.16364954C>T	ENSP00000334153:p.Val421Ile	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	63	38	0.603175	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	418	0.19139194139194138	246	0.5	44	0.12154696132596685	14	0.024475524475524476	114	0.1503957783641161	C	13.16	2.154612	0.38021	0.447345	0.143023	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.32023	1.47;1.47	5.35	0.123	0.14709	.	0.306284	0.32503	N	0.006011	T	0.00012	0.0000	M	0.62723	1.935	0.32857	P	0.492536	B;B	0.23249	0.082;0.082	B;B	0.26202	0.067;0.039	T	0.41502	-0.9505	9	0.51188	T	0.08	-10.3163	3.686	0.08328	0.2251:0.4273:0.0:0.3476	rs11554130;rs59839635	385;421	G3XAJ6;Q14699	.;RFTN1_HUMAN	I	385;421	ENSP00000403926:V385I;ENSP00000334153:V421I	ENSP00000334153:V421I	V	-	1	0	RFTN1	16339958	0.020000	0.18652	0.002000	0.10522	0.954000	0.61252	0.214000	0.17541	0.264000	0.21851	0.555000	0.69702	GTA	C|0.775;T|0.225	0.225	strong		0.448	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		T	16364954	C	T	16364954	3	4	22	1	0	0	0	0	1	0	0	0	13258	478	17	2	483	2	RFTN1	3	16364954	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6370	16364954	181657476	2000	7108										
PLCL2	23228	hgsc.bcm.edu	37	chr3	17053499	17053499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actaaccgaagaggaggaggAaagcctcataaaaggggcct	13	8	1	1	rs4602367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:17053499A>G	ENST00000418129.2	+	2	2748	c.2283A>G	c.(2281-2283)ggA>ggG	p.G761G	PLCL2_ENST00000432376.1_Silent_p.G761G|PLCL2_ENST00000396755.2_Silent_p.G761G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	887	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAGGAGGAGGAAAGCCTCATA	0.478													G|||	3116	0.622204	0.674	0.5821	5008	,	,		17772	0.626		0.5338	False		,,,				2504	0.6677				p.G761G		Atlas-SNP	.											.	PLCL2	145	.	0			c.A2283G						PASS	.	G	,	2794,1612	496.5+/-363.6	866,1062,275	96	101	99		2665,2283	3.9	1	3	dbSNP_111	99	4537,4063	557.6+/-387.1	1208,2121,971	yes	coding-synonymous,coding-synonymous	PLCL2	NM_001144382.1,NM_015184.5	,	2074,3183,1246	GG,GA,AA		47.2442,36.5865,43.6337	,	887/1128,761/1002	17053499	7331,5675	2203	4300	6503	SO:0001819	synonymous_variant	23228	exon2			AGGAGGAAAGCCT	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2283A>G	3.37:g.17053499A>G		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	137	73	0.532847	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	CCDS33713.1	1266	0.5796703296703297	330	0.6707317073170732	182	0.5027624309392266	351	0.6136363636363636	403	0.5316622691292876	G	9.466	1.094255	0.20471	0.634135	0.527558	ENSG00000154822	ENST00000419842	.	.	.	5.74	3.92	0.45320	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.43048	-0.9415	3	.	.	.	.	7.7303	0.28783	0.1332:0.2531:0.6137:0.0	rs4602367;rs58093973;rs4602367	.	.	.	G	505	.	.	E	+	2	0	PLCL2	17028503	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	0.418000	0.21230	0.352000	0.24053	-0.320000	0.08662	GAA	A|0.441;G|0.559	0.559	strong		0.478	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			G	17053499	A	G	17053499	2	3	22	1	0	0	0	0	0	0	0	1	12040	233	9	2		2	PLCL2	3	17053499	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	688545	17053499	180968931	2001	7109										
TBC1D5	9779	hgsc.bcm.edu	37	chr3	17208267	17208267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtttctgtacctgtttaaTggcccctgacatttgaacgc	9	10	1	2	rs1138454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:17208267T>C	ENST00000253692.7	-	21	3750	c.2086A>G	c.(2086-2088)Att>Gtt	p.I696V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.I718V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.I696V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	696			I -> V (in dbSNP:rs1138454).			retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACCTGTTTAATGGCCCCTGAC	0.488													T|||	1341	0.267772	0.2103	0.3112	5008	,	,		17861	0.0794		0.3936	False		,,,				2504	0.3793				p.I718V		Atlas-SNP	.											.	TBC1D5	69	.	0			c.A2152G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE	1030,3376	379.9+/-323.5	108,814,1281	112	101	105		2086,2152,2086	-9.4	0	3	dbSNP_86	105	3447,5153	507.0+/-376.7	698,2051,1551	yes	missense,missense,missense	TBC1D5	NM_001134380.1,NM_001134381.1,NM_014744.2	29,29,29	806,2865,2832	CC,CT,TT		40.0814,23.3772,34.4226	benign,benign,benign	696/796,718/818,696/796	17208267	4477,8529	2203	4300	6503	SO:0001583	missense	9779	exon23			GTTTAATGGCCCC	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2086A>G	3.37:g.17208267T>C	ENSP00000253692:p.Ile696Val	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	156	155	0.99359	NM_001134381	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	575	0.2632783882783883	123	0.25	116	0.32044198895027626	37	0.06468531468531469	299	0.3944591029023747	T	6.504	0.461153	0.12342	0.233772	0.400814	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.28666	1.61;1.61;1.6	4.7	-9.41	0.00613	.	1.736360	0.02827	N	0.126339	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26710	-1.0095	9	0.14252	T	0.57	4.8919	4.3982	0.11374	0.0993:0.4419:0.2011:0.2577	rs3202373	718;696;696	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	V	696;696;718	ENSP00000253692:I696V;ENSP00000398127:I696V;ENSP00000402935:I718V	ENSP00000253692:I696V	I	-	1	0	TBC1D5	17183271	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.064000	0.01387	-2.129000	0.00817	-0.375000	0.07067	ATT	T|0.701;C|0.299	0.299	strong		0.488	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		C	17208267	T	C	17208267	3	2	22	1	0	0	0	0	1	0	0	0	15620	1464	51	2	309	2	TBC1D5	3	17208267	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	154768	17208267	180814163	2002	7110										
TBC1D5	9779	hgsc.bcm.edu	37	chr3	17208285	17208286	+	Frame_Shift_Del	DEL	CG	CG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggcccctgacatttgaaCgctctggccttggcctcggc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:17208285_17208286delCG	ENST00000253692.7	-	21	3731_3732	c.2067_2068delCG	c.(2065-2070)agcgttfs	p.V690fs	TBC1D5_ENST00000446818.2_Frame_Shift_Del_p.V712fs|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Frame_Shift_Del_p.V690fs	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	690						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GACATTTGAACGCTCTGGCCTT	0.51																																					p.712_712del		Pindel,Atlas-Indel	.											.	TBC1D5	69	.	0			c.2134_2135del						PASS	.																																			SO:0001589	frameshift_variant	9779	exon23			.	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2067_2068delCG	3.37:g.17208285_17208286delCG	ENSP00000253692:p.Val690fs	Somatic	165	.	.		WXS	Illumina HiSeq	Phase_I	180	46	0.256	NM_001134381	A6NP25|C9JP52	Frame_Shift_Del	DEL	ENST00000253692.7	37	CCDS33714.1																																																																																			.	.	none		0.51	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		-	17208286	CG	-	17208285	7	5	22	1	0	1	0	1	0	0	0	0	15620	536	19	0	327	0	TBC1D5	3	17208285	Frame_Shift_Del	DEL	CG	TCGA-G8-6324-01A-11D-2210-10	18	17208285	180814145	2003	7111										
TOP2B	7155	hgsc.bcm.edu	37	chr3	25639849	25639849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcttcatcagactctgcAaaatattttacttctttcct	2	11	6	1	rs11548723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:25639849A>G	ENST00000264331.4	-	36	4829	c.4830T>C	c.(4828-4830)ttT>ttC	p.F1610F	TOP2B_ENST00000435706.2_Silent_p.F1605F|TOP2B_ENST00000540199.1_Silent_p.F462F|TOP2B_ENST00000542520.1_Silent_p.F462F	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1610					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGACTCTGCAAAATATTTTA	0.408													A|||	66	0.0131789	0.0015	0.036	5008	,	,		17937	0.0		0.0378	False		,,,				2504	0.001				p.F1605F		Atlas-SNP	.											.	TOP2B	98	.	0			c.T4815C						PASS	.	A		32,3680		0,32,1824	150	146	147		4815	4.6	1	3	dbSNP_120	147	381,7821		9,363,3729	no	coding-synonymous	TOP2B	NM_001068.2		9,395,5553	GG,GA,AA		4.6452,0.8621,3.4665		1605/1622	25639849	413,11501	1856	4101	5957	SO:0001819	synonymous_variant	7155	exon36			CTCTGCAAAATAT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4830T>C	3.37:g.25639849A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	135	60	0.444444	NM_001068	Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37																																																																																				A|0.977;G|0.023	0.023	strong		0.408	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				G	25639849	A	G	25639849	2	3	22	1	0	0	0	0	0	0	0	1	16363	127	5	2		2	TOP2B	3	25639849	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8431564	25639849	172382581	2004	7112										
TOP2B	7155	hgsc.bcm.edu	37	chr3	25679738	25679738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggaacataaactttctcTaccttgtgttctactactgg	7	10	2	0	rs60422476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:25679738T>C	ENST00000264331.4	-	5	458	c.459A>G	c.(457-459)gtA>gtG	p.V153V	TOP2B_ENST00000435706.2_Silent_p.V148V	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	153					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAACTTTCTCTACCTTGTGTT	0.279													T|||	1682	0.335863	0.3933	0.3689	5008	,	,		12520	0.3095		0.2763	False		,,,				2504	0.3231				p.V148V		Atlas-SNP	.											.	TOP2B	98	.	0			c.A444G						PASS	.	T		1450,2128		290,870,629	60	57	58		444	3.8	1	3	dbSNP_129	58	2011,6063		255,1501,2281	no	coding-synonymous	TOP2B	NM_001068.2		545,2371,2910	CC,CT,TT		24.9071,40.5254,29.7031		148/1622	25679738	3461,8191	1789	4037	5826	SO:0001819	synonymous_variant	7155	exon5			TTTCTCTACCTTG	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.459A>G	3.37:g.25679738T>C		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	222	123	0.554054	NM_001068	Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37																																																																																				T|0.700;C|0.300	0.300	strong		0.279	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				C	25679738	T	C	25679738	2	2	22	1	0	0	0	0	0	0	0	1	16363	1509	53	3		3	TOP2B	3	25679738	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39889	25679738	172342692	2005	7113										
LRRC3B	116135	hgsc.bcm.edu	37	chr3	26751526	26751526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagactctggacttgtcCgacaatcggattcaaagtgt	10	9	2	1	rs141944883		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:26751526C>T	ENST00000396641.2	+	2	955	c.363C>T	c.(361-363)tcC>tcT	p.S121S	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Silent_p.S121S|LRRC3B_ENST00000456208.2_Silent_p.S121S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	121						integral component of membrane (GO:0016021)		p.S121S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGGACTTGTCCGACAATCGGA	0.473																																					p.S121S		Atlas-SNP	.											LRRC3B,NS,NS,0,1	LRRC3B	51	1	1	Substitution - coding silent(1)	pancreas(1)	c.C363T						scavenged	.	C		0,4406		0,0,2203	62	58	60		363	-1.9	1	3	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC3B	NM_052953.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/260	26751526	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116135	exon2			CTTGTCCGACAAT	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.363C>T	3.37:g.26751526C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_052953	Q5M8T0	Silent	SNP	ENST00000396641.2	37	CCDS2644.1																																																																																			C|1.000;T|0.000	0.000	weak		0.473	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		T	26751526	C	T	26751526	2	4	22	1	0	0	0	0	0	0	0	1	8996	639	23	1		1	LRRC3B	3	26751526	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1071788	26751526	171270904	2006	7114										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27436247	27436247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgagcaaatcaaggtgaTagccagctcctttctgaaaa	8	10	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27436247T>C	ENST00000295736.5	-	20	2922	c.2852A>G	c.(2851-2853)tAt>tGt	p.Y951C	SLC4A7_ENST00000455077.1_Missense_Mutation_p.Y832C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.Y501C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.Y832C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.Y947C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.Y943C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.Y827C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.Y836C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.Y947C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.Y960C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	951					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATCAAGGTGATAGCCAGCTCC	0.393																																					p.Y951C		Atlas-SNP	.											.	SLC4A7	119	.	0			c.A2852G						PASS	.						101	93	96					3																	27436247		2203	4300	6503	SO:0001583	missense	9497	exon20			AGGTGATAGCCAG	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2852A>G	3.37:g.27436247T>C	ENSP00000295736:p.Tyr951Cys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	85	47	0.552941	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526853	0.85706	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.84	5.84	0.93424	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95792	0.8825	10	0.87932	D	0	.	16.2194	0.82247	0.0:0.0:0.0:1.0	.	947;832;943;947;960;501;827;951;832	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	502;951;827;960;947;832;943;832;947;836;501;847	ENSP00000411031:Y502C;ENSP00000295736:Y951C;ENSP00000416368:Y827C;ENSP00000390394:Y960C;ENSP00000414797:Y947C;ENSP00000394252:Y832C;ENSP00000406605:Y943C;ENSP00000407382:Y832C;ENSP00000406804:Y947C;ENSP00000395336:Y836C;ENSP00000373429:Y501C;ENSP00000388703:Y847C	ENSP00000295736:Y951C	Y	-	2	0	SLC4A7	27411251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.234000	0.73211	0.528000	0.53228	TAT	.	.	none		0.393	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		C	27436247	T	C	27436247	3	2	22	1	0	0	0	0	1	0	0	0	14658	1406	49	2	816	2	SLC4A7	3	27436247	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	684721	27436247	170586183	2007	7115										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27442336	27442336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctagagtttcattgctgggGtttggaggttcagtacatac	13	6	2	1	rs3736312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27442336G>A	ENST00000295736.5	-	16	2389	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SLC4A7_ENST00000455077.1_Silent_p.N654N|SLC4A7_ENST00000388777.4_Silent_p.N323N|SLC4A7_ENST00000440156.1_Silent_p.N769N|SLC4A7_ENST00000446700.1_Silent_p.N765N|SLC4A7_ENST00000445684.1_Silent_p.N769N|SLC4A7_ENST00000435667.2_Silent_p.N658N|SLC4A7_ENST00000437179.1_Silent_p.N654N|SLC4A7_ENST00000428386.1_Silent_p.N649N|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Silent_p.N782N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	773					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CATTGCTGGGGTTTGGAGGTT	0.313													G|||	642	0.128195	0.0446	0.1614	5008	,	,		17831	0.0565		0.2247	False		,,,				2504	0.1922				p.N773N		Atlas-SNP	.											.	SLC4A7	119	.	0			c.C2319T						PASS	.	G		354,4052	182.6+/-210.3	9,336,1858	152	149	150		2319	1.3	1	3	dbSNP_107	150	2129,6465	365.1+/-333.8	264,1601,2432	no	coding-synonymous	SLC4A7	NM_003615.3		273,1937,4290	AA,AG,GG		24.7731,8.0345,19.1		773/1215	27442336	2483,10517	2203	4297	6500	SO:0001819	synonymous_variant	9497	exon16			GCTGGGGTTTGGA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2319C>T	3.37:g.27442336G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	160	75	0.46875	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																			G|0.828;A|0.172	0.172	strong		0.313	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		A	27442336	G	A	27442336	2	1	22	1	0	0	0	0	0	0	0	1	14658	1252	44	2		2	SLC4A7	3	27442336	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6089	27442336	170580094	2008	7116										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27472936	27472936	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggcctgacgctgactctCttgggaacttctggaggtca	14	10	3	2	rs3755652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27472936C>T	ENST00000295736.5	-	7	1046	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E322K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.E318K|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E322K|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000425128.2_Missense_Mutation_p.E318K|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E335K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	326			E -> K (in dbSNP:rs3755652). {ECO:0000269|PubMed:10347222, ECO:0000269|Ref.4}.		auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CGCTGACTCTCTTGGGAACTT	0.542													c|||	647	0.129193	0.0461	0.1643	5008	,	,		15813	0.0565		0.2266	False		,,,				2504	0.1912				p.E326K		Atlas-SNP	.											.	SLC4A7	119	.	0			c.G976A						PASS	.	C	LYS/GLU	359,4047	184.3+/-211.7	10,339,1854	108	113	111		976	5.1	0.8	3	dbSNP_107	111	2159,6441	369.3+/-335.4	270,1619,2411	yes	missense	SLC4A7	NM_003615.3	56	280,1958,4265	TT,TC,CC		25.1047,8.148,19.3603	benign	326/1215	27472936	2518,10488	2203	4300	6503	SO:0001583	missense	9497	exon7			GACTCTCTTGGGA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.976G>A	3.37:g.27472936C>T	ENSP00000295736:p.Glu326Lys	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	245	124	0.506122	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	276	0.12637362637362637	21	0.042682926829268296	70	0.19337016574585636	19	0.033216783216783216	166	0.21899736147757257	c	4.815	0.151530	0.09185	0.08148	0.251047	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.77489	-1.01;-1.02;-1.1;-1.1;-1.1;0.42	5.98	5.12	0.69794	Bicarbonate transporter, cytoplasmic (1);	0.315954	0.28284	N	0.015915	T	0.00039	0.0001	N	0.11560	0.145	0.38427	P	0.053651000000000004	B;B;B;B;B	0.15141	0.012;0.012;0.012;0.012;0.005	B;B;B;B;B	0.21917	0.037;0.037;0.037;0.037;0.025	T	0.03576	-1.1023	9	0.06757	T	0.87	.	15.793	0.78380	0.0:0.2578:0.7422:0.0	rs3755652;rs17682585;rs56593324;rs57811624;rs3755652	322;318;322;335;326	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	K	326;335;322;318;322;318	ENSP00000295736:E326K;ENSP00000390394:E335K;ENSP00000414797:E322K;ENSP00000406605:E318K;ENSP00000406804:E322K;ENSP00000401949:E318K	ENSP00000295736:E326K	E	-	1	0	SLC4A7	27447940	0.996000	0.38824	0.793000	0.32043	0.844000	0.47949	2.454000	0.44979	1.560000	0.49568	-0.191000	0.12829	GAG	C|0.843;T|0.157	0.157	strong		0.542	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		T	27472936	C	T	27472936	3	4	22	1	0	0	0	0	1	0	0	0	14658	922	32	2	2744	2	SLC4A7	3	27472936	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30600	27472936	170549494	2009	7117										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27473066	27473066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaggaagaagatgaccAagaagaagagataaaggtga	14	2	0	8	rs13077400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27473066A>G	ENST00000295736.5	-	7	916	c.846T>C	c.(844-846)ctT>ctC	p.L282L	SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_Silent_p.L278L|SLC4A7_ENST00000446700.1_Silent_p.L274L|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000425128.2_Silent_p.L274L|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000445684.1_Silent_p.L278L|SLC4A7_ENST00000454389.1_Silent_p.L291L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	282					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAAGATGACCAAGAAGAAGAG	0.522													G|||	823	0.164337	0.1702	0.1772	5008	,	,		17626	0.0575		0.2276	False		,,,				2504	0.1922				p.L282L		Atlas-SNP	.											.	SLC4A7	119	.	0			c.T846C						PASS	.	G		833,3573	747.4+/-411.8	77,679,1447	89	97	94		846	6	1	3	dbSNP_121	94	2165,6435	713.6+/-406.0	271,1623,2406	no	coding-synonymous	SLC4A7	NM_003615.3		348,2302,3853	GG,GA,AA		25.1744,18.906,23.0509		282/1215	27473066	2998,10008	2203	4300	6503	SO:0001819	synonymous_variant	9497	exon7			ATGACCAAGAAGA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.846T>C	3.37:g.27473066A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	136	67	0.492647	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																			A|0.800;G|0.200	0.200	strong		0.522	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27473066	A	G	27473066	2	3	22	1	0	0	0	0	0	0	0	1	14658	117	5	2		2	SLC4A7	3	27473066	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130	27473066	170549364	2010	7118										
SLC4A7	9497	hgsc.bcm.edu	37	chr3	27490194	27490194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgattctttatcttttctTctccggtggtgatgtttgtg	9	7	5	2	rs13096477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27490194T>C	ENST00000295736.5	-	3	280	c.210A>G	c.(208-210)agA>agG	p.R70R	SLC4A7_ENST00000455077.1_Silent_p.R75R|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000440156.1_Silent_p.R79R|SLC4A7_ENST00000446700.1_Silent_p.R75R|SLC4A7_ENST00000445684.1_Silent_p.R79R|SLC4A7_ENST00000435667.2_Silent_p.R79R|SLC4A7_ENST00000437179.1_Silent_p.R75R|SLC4A7_ENST00000428386.1_Silent_p.R70R|SLC4A7_ENST00000425128.2_Silent_p.R75R|SLC4A7_ENST00000454389.1_Silent_p.R79R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	70					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TATCTTTTCTTCTCCGGTGGT	0.403													T|||	605	0.120807	0.034	0.1527	5008	,	,		14346	0.0565		0.2107	False		,,,				2504	0.1892				p.R75R		Atlas-SNP	.											.	SLC4A7	119	.	0			c.A225G						PASS	.	T		300,4106	162.9+/-194.8	7,286,1910	238	214	222		210	0.6	1	3	dbSNP_121	222	1989,6611	347.9+/-326.8	221,1547,2532	no	coding-synonymous	SLC4A7	NM_003615.3		228,1833,4442	CC,CT,TT		23.1279,6.8089,17.5996		70/1215	27490194	2289,10717	2203	4300	6503	SO:0001819	synonymous_variant	9497	exon3			TTTTCTTCTCCGG	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.210A>G	3.37:g.27490194T>C		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	185	86	0.464865	NM_001258379	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																			T|0.851;C|0.149	0.149	strong		0.403	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		C	27490194	T	C	27490194	2	2	22	1	0	0	0	0	0	0	0	1	14658	1780	62	2		2	SLC4A7	3	27490194	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17128	27490194	170532236	2011	7119										
EOMES	8320	hgsc.bcm.edu	37	chr3	27758756	27758756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctagagatttgatggaaggGggtgtctctatccaagaaga	13	5	2	4	rs6783101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:27758756G>A	ENST00000295743.4	-	6	2069	c.1866C>T	c.(1864-1866)ccC>ccT	p.P622P	EOMES_ENST00000537516.1_Silent_p.P346P|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Silent_p.P641P			O95936	EOMES_HUMAN	eomesodermin	622	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TGATGGAAGGGGGTGTCTCTA	0.463													G|||	182	0.0363419	0.1316	0.0115	5008	,	,		18478	0.0		0.0	False		,,,				2504	0.0				p.P622P		Atlas-SNP	.											.	EOMES	65	.	0			c.C1866T						PASS	.	G		548,3858	247.5+/-255.7	26,496,1681	118	122	121		1866	-1.7	1	3	dbSNP_116	121	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	EOMES	NM_005442.2		26,503,5974	AA,AG,GG		0.0814,12.4376,4.2673		622/687	27758756	555,12451	2203	4300	6503	SO:0001819	synonymous_variant	8320	exon6			GGAAGGGGGTGTC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1866C>T	3.37:g.27758756G>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	212	99	0.466981	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	CCDS2646.1																																																																																			G|0.963;A|0.037	0.037	strong		0.463	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		A	27758756	G	A	27758756	2	1	22	1	0	0	0	0	0	0	0	1	5147	1219	43	2		2	EOMES	3	27758756	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	268562	27758756	170263674	2012	7120										
GADL1	339896	hgsc.bcm.edu	37	chr3	30842517	30842517	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgtgtcatagctcacatCatagaatttatcctgctgga	7	10	3	1	rs61738477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:30842517C>A	ENST00000282538.5	-	12	1264	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	GADL1_ENST00000454381.3_Missense_Mutation_p.D372Y	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	372					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TAGCTCACATCATAGAATTTA	0.418													C|||	22	0.00439297	0.0144	0.0043	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.0				p.D372Y		Atlas-SNP	.											.	GADL1	91	.	0			c.G1114T						PASS	.	C	TYR/ASP	66,4340	60.5+/-97.4	1,64,2138	132	117	122		1114	5.5	1	3	dbSNP_129	122	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GADL1	NM_207359.2	160	1,65,6437	AA,AC,CC		0.0116,1.498,0.5151	probably-damaging	372/522	30842517	67,12939	2203	4300	6503	SO:0001583	missense	339896	exon12			TCACATCATAGAA	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1114G>T	3.37:g.30842517C>A	ENSP00000282538:p.Asp372Tyr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	122	46	0.377049	NM_207359		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	26.6	4.752769	0.89753	0.01498	1.16E-4	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.43688	0.94;0.94	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052957	0.64402	D	0.000001	T	0.68696	0.3029	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80311	-0.1436	10	0.87932	D	0	.	19.3171	0.94218	0.0:1.0:0.0:0.0	.	372	Q6ZQY3	GADL1_HUMAN	Y	372	ENSP00000282538:D372Y;ENSP00000427059:D372Y	ENSP00000282538:D372Y	D	-	1	0	GADL1	30817521	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.487000	0.81328	2.571000	0.86741	0.585000	0.79938	GAT	C|0.996;A|0.004	0.004	strong		0.418	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		A	30842517	C	A	30842517	3	1	22	1	0	0	0	0	1	0	0	0	6185	826	29	4	467	4	GADL1	3	30842517	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3083761	30842517	167179913	2013	7121										
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031024	32031024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctggaaacaagcctatCaaagatcagcttggattaag	8	9	2	1	rs4449357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32031024C>T	ENST00000360311.4	+	2	1002	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	151					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)|lung(4)|ovary(1)	8						ACAAGCCTATCAAAGATCAGC	0.398													T|||	2149	0.429113	0.7912	0.3573	5008	,	,		20480	0.3006		0.1928	False		,,,				2504	0.3661				p.I151I		Atlas-SNP	.											.	ZNF860	96	.	0			c.C453T						PASS	.	T		922,462		315,292,85	67	49	54		453	0.3	0	3	dbSNP_111	54	608,2574		58,492,1041	no	coding-synonymous	ZNF860	NM_001137674.2		373,784,1126	TT,TC,CC		19.1075,33.3815,33.5085		151/633	32031024	1530,3036	692	1591	2283	SO:0001819	synonymous_variant	344787	exon2			GCCTATCAAAGAT	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.453C>T	3.37:g.32031024C>T		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	208	98	0.471154	NM_001137674	B4DFA4	Silent	SNP	ENST00000360311.4	37	CCDS46784.1																																																																																			C|0.655;T|0.345	0.345	strong		0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			T	32031024	C	T	32031024	2	4	22	1	0	0	0	0	0	0	0	1	18191	816	29	2		2	ZNF860	3	32031024	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1188507	32031024	165991406	2014	7122										
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031135	32031135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctatcaacgatgcttcctcAgttctaacgtcccaaagaat	5	12	4	1	rs6419811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32031135A>G	ENST00000360311.4	+	2	1113	c.564A>G	c.(562-564)tcA>tcG	p.S188S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	188					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)|lung(4)|ovary(1)	8						ATGCTTCCTCAGTTCTAACGT	0.358													G|||	2356	0.470447	0.7988	0.3602	5008	,	,		20726	0.4524		0.1968	False		,,,				2504	0.4049				p.S188S		Atlas-SNP	.											ZNF860_ENST00000360311,NS,carcinoma,0,6	ZNF860	96	6	0			c.A564G						PASS	.	G		938,446		325,288,79	58	44	48		564	0.3	0	3	dbSNP_116	48	608,2574		58,492,1041	no	coding-synonymous	ZNF860	NM_001137674.2		383,780,1120	GG,GA,AA		19.1075,32.2254,33.859		188/633	32031135	1546,3020	692	1591	2283	SO:0001819	synonymous_variant	344787	exon2			TTCCTCAGTTCTA	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.564A>G	3.37:g.32031135A>G		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	163	70	0.429448	NM_001137674	B4DFA4	Silent	SNP	ENST00000360311.4	37	CCDS46784.1																																																																																			A|0.567;G|0.433	0.433	strong		0.358	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			G	32031135	A	G	32031135	2	3	22	1	0	0	0	0	0	0	0	1	18191	175	7	3		3	ZNF860	3	32031135	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111	32031135	165991295	2015	7123										
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031615	32031615	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaaatgtaaggtttgtgaAaaggctttcaggcgtgattc					rs13064905	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32031615A>C	ENST00000360311.4	+	2	1593	c.1044A>C	c.(1042-1044)gaA>gaC	p.E348D		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	348					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)|lung(4)|ovary(1)	8						AGGTTTGTGAAAAGGCTTTCA	0.393													C|||	2356	0.470447	0.7988	0.3602	5008	,	,		21648	0.4524		0.1968	False		,,,				2504	0.4049				p.E348D		Atlas-SNP	.											.	ZNF860	96	.	0			c.A1044C						PASS	.						45	47	46					3																	32031615		692	1591	2283	SO:0001583	missense	344787	exon2			TTGTGAAAAGGCT	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1044A>C	3.37:g.32031615A>C	ENSP00000373274:p.Glu348Asp	Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	311	127	0.40836	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	911	0.41712454212454214	385	0.782520325203252	126	0.34806629834254144	248	0.43356643356643354	152	0.20052770448548812	C	3.265	-0.150374	0.06585	.	.	ENSG00000197385	ENST00000360311	T	0.01185	5.21	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.04148	-0.265	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.02411	-1.1163	7	.	.	.	.	2.5267	0.04693	0.3212:0.3574:0.3213:0.0	rs13064905;rs61529855;rs13064905	348	A6NHJ4	ZN860_HUMAN	D	348	ENSP00000373274:E348D	.	E	+	3	2	ZNF860	32006619	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.684000	0.01932	-0.518000	0.06452	-0.525000	0.04345	GAA	A|0.614;C|0.386	0.386	strong		0.393	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			C	32031615	A	C	32031615	3	2	22	1	0	0	0	0	1	0	0	0	18191	11	1	5	1046	5	ZNF860	3	32031615	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	480	32031615	165990815	2016	7124	140	2								
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031622	32031622	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaggtttgtgaaaaggctTtcaggcgtgattcacacctc					rs13087612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32031622T>C	ENST00000360311.4	+	2	1600	c.1051T>C	c.(1051-1053)Ttc>Ctc	p.F351L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	351					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)|lung(4)|ovary(1)	8						TGAAAAGGCTTTCAGGCGTGA	0.398													T|||	2329	0.465056	0.7799	0.3573	5008	,	,		21477	0.4524		0.1968	False		,,,				2504	0.4049				p.F351L		Atlas-SNP	.											ZNF860_ENST00000360311,NS,carcinoma,0,2	ZNF860	96	2	0			c.T1051C						PASS	.	T	LEU/PHE	897,487		298,301,93	48	49	49		1051	0.3	0	3	dbSNP_121	49	608,2574		57,494,1040	yes	missense	ZNF860	NM_001137674.2	22	355,795,1133	CC,CT,TT		19.1075,35.1879,32.961	probably-damaging	351/633	32031622	1505,3061	692	1591	2283	SO:0001583	missense	344787	exon2			AAGGCTTTCAGGC	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1051T>C	3.37:g.32031622T>C	ENSP00000373274:p.Phe351Leu	Somatic	390	0	0		WXS	Illumina HiSeq	Phase_I	323	129	0.399381	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	899	0.4116300366300366	373	0.758130081300813	125	0.3453038674033149	248	0.43356643356643354	153	0.20184696569920843	T	14.79	2.640073	0.47153	0.648121	0.191075	ENSG00000197385	ENST00000360311	T	0.46063	0.88	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.90977	3.165	0.58432	P	5.999999999950489E-6	D	0.63880	0.993	D	0.68192	0.956	T	0.39683	-0.9602	7	.	.	.	.	4.9959	0.14240	0.0:2.0E-4:0.0:0.9998	rs13087612;rs59979195;rs13087612	351	A6NHJ4	ZN860_HUMAN	L	351	ENSP00000373274:F351L	.	F	+	1	0	ZNF860	32006626	0.979000	0.34478	0.003000	0.11579	0.003000	0.03518	5.394000	0.66285	0.332000	0.23536	0.323000	0.21402	TTC	T|0.621;C|0.379	0.379	strong		0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			C	32031622	T	C	32031622	3	2	22	1	0	0	0	0	1	0	0	0	18191	1841	64	2	1053	2	ZNF860	3	32031622	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7	32031622	165990808	2017	7125	140	2								
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031643	32031643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggcgtgattcacacctcAcacaacacactagaattcac	5	14	4	2	rs386659897|rs13065048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32031643A>G	ENST00000360311.4	+	2	1621	c.1072A>G	c.(1072-1074)Aca>Gca	p.T358A		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	358					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)|lung(4)|ovary(1)	8						TTCACACCTCACACAACACAC	0.403													a|||	2357	0.470647	0.7988	0.3602	5008	,	,		21395	0.4534		0.1968	False		,,,				2504	0.4049				p.T358A		Atlas-SNP	.											.	ZNF860	96	.	0			c.A1072G						PASS	.	G	ALA/THR	933,451		325,283,84	48	50	49		1072	-0.7	0	3	dbSNP_121	49	608,2574		57,494,1040	no	missense	ZNF860	NM_001137674.2	58	382,777,1124	GG,GA,AA		19.1075,32.5867,33.7495	benign	358/633	32031643	1541,3025	692	1591	2283	SO:0001583	missense	344787	exon2			CACCTCACACAAC	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1072A>G	3.37:g.32031643A>G	ENSP00000373274:p.Thr358Ala	Somatic	392	0	0		WXS	Illumina HiSeq	Phase_I	329	134	0.407295	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	913	0.41804029304029305	385	0.782520325203252	126	0.34806629834254144	249	0.4353146853146853	153	0.20184696569920843	a	0.001	-2.874949	0.00062	0.674133	0.191075	ENSG00000197385	ENST00000360311	T	0.06849	3.25	0.345	-0.691	0.11305	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.28115	0.83	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	7	.	.	.	.	2.7881	0.05379	0.2503:0.0:0.5021:0.2476	rs13065048;rs52806446;rs60333482;rs13065048	358	A6NHJ4	ZN860_HUMAN	A	358	ENSP00000373274:T358A	.	T	+	1	0	ZNF860	32006647	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.246000	0.18160	-2.012000	0.00950	-2.005000	0.00442	ACA	A|0.615;G|0.385	0.385	strong		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			G	32031643	A	G	32031643	3	3	22	1	0	0	0	0	1	0	0	0	18191	159	6	2	1074	2	ZNF860	3	32031643	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21	32031643	165990787	2018	7126										
ZNF860	344787	hgsc.bcm.edu	37	chr3	32032397	32032397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttacttcacattcacatcGcattagacatcagagaatcc	4	12	3	2	rs4955216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32032397G>T	ENST00000360311.4	+	2	2375	c.1826G>T	c.(1825-1827)cGc>cTc	p.R609L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	609					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)|lung(4)|ovary(1)	8						CATTCACATCGCATTAGACAT	0.398													T|||	2157	0.430711	0.7988	0.3573	5008	,	,		22192	0.3006		0.1928	False		,,,				2504	0.364				p.R609L		Atlas-SNP	.											.	ZNF860	96	.	0			c.G1826T						PASS	.	T	LEU/ARG	935,449		322,291,79	43	36	38		1826	0.3	0	3	dbSNP_111	38	610,2572		58,494,1039	no	missense	ZNF860	NM_001137674.2	102	380,785,1118	TT,TG,GG		19.1703,32.4422,33.8371	benign	609/633	32032397	1545,3021	692	1591	2283	SO:0001583	missense	344787	exon2			CACATCGCATTAG	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1826G>T	3.37:g.32032397G>T	ENSP00000373274:p.Arg609Leu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	147	74	0.503401	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	836	0.38278388278388276	385	0.782520325203252	125	0.3453038674033149	176	0.3076923076923077	150	0.19788918205804748	T	0.004	-2.318068	0.00235	0.675578	0.191703	ENSG00000197385	ENST00000360311	T	0.06687	3.27	0.314	0.314	0.15847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00186	-1.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09122	-1.0689	7	.	.	.	.	5.1539	0.15025	0.0:0.0:0.6429:0.357	rs4955216;rs17028702;rs52831549;rs59940424;rs4955216	609	A6NHJ4	ZN860_HUMAN	L	609	ENSP00000373274:R609L	.	R	+	2	0	ZNF860	32007401	0.275000	0.24201	0.001000	0.08648	0.001000	0.01503	1.189000	0.32114	-0.768000	0.04626	-0.930000	0.02707	CGC	G|0.644;T|0.356	0.356	strong		0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			T	32032397	G	T	32032397	3	4	22	1	0	0	0	0	1	0	0	0	18191	1087	38	4	1828	4	ZNF860	3	32032397	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	754	32032397	165990033	2019	7127										
GPD1L	23171	hgsc.bcm.edu	37	chr3	32181761	32181761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgaagctcatttctgaCatcatccgtgagaagatggg	13	8	3	4	rs9835387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32181761C>T	ENST00000282541.5	+	4	609	c.408C>T	c.(406-408)gaC>gaT	p.D136D		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	136					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TCATTTCTGACATCATCCGTG	0.512													C|||	750	0.14976	0.2965	0.1182	5008	,	,		19949	0.002		0.1362	False		,,,				2504	0.1401				p.D136D		Atlas-SNP	.											.	GPD1L	25	.	0			c.C408T						PASS	.	C		1282,3124	437.6+/-345.0	178,926,1099	178	178	178		408	5.5	1	3	dbSNP_119	178	1193,7407	241.8+/-272.0	95,1003,3202	no	coding-synonymous	GPD1L	NM_015141.3		273,1929,4301	TT,TC,CC		13.8721,29.0967,19.0297		136/352	32181761	2475,10531	2203	4300	6503	SO:0001819	synonymous_variant	23171	exon4			TTCTGACATCATC	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.408C>T	3.37:g.32181761C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_015141	A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	CCDS33729.1																																																																																			C|0.828;T|0.172	0.172	strong		0.512	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		T	32181761	C	T	32181761	2	4	22	1	0	0	0	0	0	0	0	1	6605	477	17	2		2	GPD1L	3	32181761	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	149364	32181761	165840669	2020	7128										
TRIM71	131405	hgsc.bcm.edu	37	chr3	32933036	32933036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcaccccgactgccagtcGgcacgctttctgggctcgga	11	15	2	0	rs13096271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:32933036G>A	ENST00000383763.5	+	4	2403	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	780					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGCCAGTCGGCACGCTTTC	0.612													G|||	719	0.14357	0.1044	0.0836	5008	,	,		18483	0.2907		0.0855	False		,,,				2504	0.1472				p.S780S		Atlas-SNP	.											TRIM71,NS,meningioma,+1,1	TRIM71	73	1	0			c.G2340A						PASS	.	G		352,3574		27,298,1638	39	41	41		2340	-11.9	0	3	dbSNP_121	41	815,7499		39,737,3381	no	coding-synonymous	TRIM71	NM_001039111.1		66,1035,5019	AA,AG,GG		9.8027,8.9659,9.5343		780/869	32933036	1167,11073	1963	4157	6120	SO:0001819	synonymous_variant	131405	exon4			CCAGTCGGCACGC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2340G>A	3.37:g.32933036G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_001039111		Silent	SNP	ENST00000383763.5	37	CCDS43060.1																																																																																			G|0.873;A|0.127	0.127	strong		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32933036	G	A	32933036	2	1	22	1	0	0	0	0	0	0	0	1	16541	1103	39	1		1	TRIM71	3	32933036	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	751275	32933036	165089394	2021	7129										
UBP1	7342	hgsc.bcm.edu	37	chr3	33458266	33458266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacctttactaattttccaTtgatctcaggcatatcaccc	3	12	2	1	rs3736563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:33458266T>C	ENST00000283629.3	-	3	855	c.326A>G	c.(325-327)aAt>aGt	p.N109S	UBP1_ENST00000447368.2_Missense_Mutation_p.N109S|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Missense_Mutation_p.N109S	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	109			N -> S (in dbSNP:rs3736563). {ECO:0000269|PubMed:8114710}.		angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAATTTTCCATTGATCTCAGG	0.294													C|||	2399	0.479034	0.5333	0.5605	5008	,	,		18916	0.6091		0.3141	False		,,,				2504	0.3834				p.N109S		Atlas-SNP	.											.	UBP1	42	.	0			c.A326G						PASS	.	C	SER/ASN,SER/ASN,SER/ASN	2363,2043	566.7+/-382.0	610,1143,450	104	107	106		326,326,326	4	1	3	dbSNP_107	106	2423,6175	697.0+/-404.9	332,1759,2208	yes	missense,missense,missense	UBP1	NM_001128160.1,NM_001128161.1,NM_014517.4	46,46,46	942,2902,2658	CC,CT,TT		28.181,46.3686,36.8041	benign,benign,benign	109/505,109/541,109/541	33458266	4786,8218	2203	4299	6502	SO:0001583	missense	7342	exon3			TTTCCATTGATCT	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.326A>G	3.37:g.33458266T>C	ENSP00000283629:p.Asn109Ser	Somatic	355	0	0		WXS	Illumina HiSeq	Phase_I	371	176	0.474394	NM_001128160	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	993	0.45467032967032966	253	0.5142276422764228	182	0.5027624309392266	309	0.5402097902097902	249	0.32849604221635886	C	2.681	-0.275386	0.05679	0.536314	0.28181	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.73	3.95	0.45737	CP2 transcription factor (1);	0.144057	0.64402	N	0.000005	T	0.00012	0.0000	N	0.03608	-0.345	0.44247	P	0.002905999999999964	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.44590	-0.9318	9	0.07325	T	0.83	-11.4831	2.3834	0.04360	0.113:0.4797:0.1756:0.2318	rs3736563;rs57275094;rs3736563	109;109	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	S	109	ENSP00000283629:N109S;ENSP00000395558:N109S;ENSP00000283628:N109S;ENSP00000401614:N109S	ENSP00000283628:N109S	N	-	2	0	UBP1	33433270	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	1.041000	0.30291	0.464000	0.27142	-0.119000	0.15052	AAT	T|0.585;C|0.415	0.415	strong		0.294	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		C	33458266	T	C	33458266	3	2	22	1	0	0	0	0	1	0	0	0	16892	1493	52	2	1352	2	UBP1	3	33458266	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	525230	33458266	164564164	2022	7130										
CLASP2	23122	hgsc.bcm.edu	37	chr3	33759474	33759474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacctgggcgcagaagtaCtccatgctgcggggctccat	13	13	0	1	rs112019256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:33759474C>T	ENST00000468888.2	-	1	67	c.21G>A	c.(19-21)gaG>gaA	p.E7E	CLASP2_ENST00000399362.4_Silent_p.E7E|CLASP2_ENST00000359576.5_Silent_p.E7E|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	0					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CGCAGAAGTACTCCATGCTGC	0.726													C|||	37	0.00738818	0.025	0.0014	5008	,	,		9762	0.002		0.0	False		,,,				2504	0.001				p.E7E		Atlas-SNP	.											.	CLASP2	138	.	0			c.G21A						PASS	.	C		54,3038		0,54,1492	3	4	3		21	1	1	3	dbSNP_132	3	2,7002		0,2,3500	no	coding-synonymous	CLASP2	NM_015097.2		0,56,4992	TT,TC,CC		0.0286,1.7464,0.5547		7/1516	33759474	56,10040	1546	3502	5048	SO:0001819	synonymous_variant	23122	exon1			GAAGTACTCCATG	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.21G>A	3.37:g.33759474C>T		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	14	5	0.357143	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37																																																																																				C|0.333;T|0.667	0.667	weak		0.726	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33759474	C	T	33759474	2	4	22	1	0	0	0	0	0	0	0	1	3455	564	20	2		2	CLASP2	3	33759474	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	301208	33759474	164262956	2023	7131										
TRANK1	9881	hgsc.bcm.edu	37	chr3	36887863	36887863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgagcccgtgtgatggcGgtgtacagctgcttcagctc	13	13	1	1	rs142584752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:36887863G>A	ENST00000429976.2	-	16	5182	c.4935C>T	c.(4933-4935)acC>acT	p.T1645T	TRANK1_ENST00000428977.2_Silent_p.T1095T|TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000301807.6_Silent_p.T1095T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1645							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTGTGATGGCGGTGTACAGCT	0.448													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.0				p.T1645T		Atlas-SNP	.											.	TRANK1	398	.	0			c.C4935T						PASS	.	G		30,3826		1,28,1899	56	54	55		4935	-10.3	0.4	3	dbSNP_134	55	1,8267		0,1,4133	no	coding-synonymous	TRANK1	NM_014831.2		1,29,6032	AA,AG,GG		0.0121,0.778,0.2557		1645/2926	36887863	31,12093	1928	4134	6062	SO:0001819	synonymous_variant	9881	exon16			GATGGCGGTGTAC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4935C>T	3.37:g.36887863G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	224	92	0.410714	NM_014831	Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																			G|0.998;A|0.002	0.002	strong		0.448	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36887863	G	A	36887863	2	1	22	1	0	0	0	0	0	0	0	1	16451	1103	39	1		1	TRANK1	3	36887863	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3128389	36887863	161134567	2024	7132										
TRANK1	9881	hgsc.bcm.edu	37	chr3	36898699	36898699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcagcatttctgaagtGcactcgatctcccaggtcat	7	12	5	1	rs187740236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:36898699G>A	ENST00000429976.2	-	12	2629	c.2382C>T	c.(2380-2382)tgC>tgT	p.C794C	TRANK1_ENST00000301807.6_Silent_p.C244C|TRANK1_ENST00000428977.2_Silent_p.C244C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	794							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTCTGAAGTGCACTCGATCT	0.502													G|||	14	0.00279553	0.0106	0.0	5008	,	,		20254	0.0		0.0	False		,,,				2504	0.0				p.C794C		Atlas-SNP	.											.	TRANK1	398	.	0			c.C2382T						PASS	.	G		34,4008		1,32,1988	243	235	238		2382	-3.4	0.7	3		238	0,8392		0,0,4196	yes	coding-synonymous	TRANK1	NM_014831.2		1,32,6184	AA,AG,GG		0.0,0.8412,0.2734		794/2926	36898699	34,12400	2021	4196	6217	SO:0001819	synonymous_variant	9881	exon12			TGAAGTGCACTCG	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2382C>T	3.37:g.36898699G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	74	35	0.472973	NM_014831	Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																			G|0.998;A|0.002	0.002	strong		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36898699	G	A	36898699	2	1	22	1	0	0	0	0	0	0	0	1	16451	1311	46	2		2	TRANK1	3	36898699	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10836	36898699	161123731	2025	7133										
EPM2AIP1	9852	hgsc.bcm.edu	37	chr3	37033348	37033348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacaaatatggtcaaaggcAgcagcagcaaagactttact	9	8	1	1	rs200289425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:37033348A>G	ENST00000322716.5	-	1	1447	c.1221T>C	c.(1219-1221)gcT>gcC	p.A407A	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	407					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GGTCAAAGGCAGCAGCAGCAA	0.383													A|||	4	0.000798722	0.003	0.0	5008	,	,		19336	0.0		0.0	False		,,,				2504	0.0				p.A407A		Atlas-SNP	.											.	EPM2AIP1	47	.	0			c.T1221C						PASS	.	A		4,3784		0,4,1890	93	95	95		1221	-2.3	1	3		95	0,8210		0,0,4105	no	coding-synonymous	EPM2AIP1	NM_014805.3		0,4,5995	GG,GA,AA		0.0,0.1056,0.0333		407/608	37033348	4,11994	1894	4105	5999	SO:0001819	synonymous_variant	9852	exon1			AAAGGCAGCAGCA	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1221T>C	3.37:g.37033348A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_014805	O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	CCDS46790.1																																																																																			A|0.999;G|0.001	0.001	strong		0.383	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		G	37033348	A	G	37033348	2	3	22	1	0	0	0	0	0	0	0	1	5184	175	7	3		3	EPM2AIP1	3	37033348	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	134649	37033348	160989082	2026	7134										
LRRFIP2	9209	hgsc.bcm.edu	37	chr3	37144480	37144480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcccctacgattggagcGactgaaataatcagcggcag	10	11	1	1	rs143314448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:37144480G>A	ENST00000336686.4	-	15	888	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.R270C|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	270	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGATTGGAGCGACTGAAATAA	0.403													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15844	0.0		0.0	False		,,,				2504	0.0				p.R270C		Atlas-SNP	.											.	LRRFIP2	71	.	1	Whole gene deletion(1)	ovary(1)	c.C808T						PASS	.	G	,CYS/ARG,	12,4386		0,12,2187	79	61	67		,808,	6.2	1	3	dbSNP_134	67	0,8592		0,0,4296	yes	intron,missense,intron	LRRFIP2	NM_001134369.1,NM_006309.2,NM_017724.2	,180,	0,12,6483	AA,AG,GG		0.0,0.2729,0.0924	,probably-damaging,	,270/722,	37144480	12,12978	2199	4296	6495	SO:0001583	missense	9209	exon16			TGGAGCGACTGAA	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.808C>T	3.37:g.37144480G>A	ENSP00000338727:p.Arg270Cys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	81	39	0.481481	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	33	5.265897	0.95399	0.002729	0.0	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.56275	0.47;0.47	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64859	-0.6308	10	0.66056	D	0.02	-8.9955	20.4549	0.99139	0.0:0.0:1.0:0.0	.	270	Q9Y608	LRRF2_HUMAN	C	270	ENSP00000392217:R270C;ENSP00000338727:R270C	ENSP00000338727:R270C	R	-	1	0	LRRFIP2	37119484	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.226000	0.72277	2.937000	0.99478	0.650000	0.86243	CGC	G|0.999;A|0.001	0.001	strong		0.403	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		A	37144480	G	A	37144480	3	1	22	1	0	0	0	0	1	0	0	0	9028	1058	37	1	1413	1	LRRFIP2	3	37144480	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111132	37144480	160877950	2027	7135										
LRRFIP2	9209	hgsc.bcm.edu	37	chr3	37154417	37154417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaactaaccagtaggtcttTatgagaatcagaagacctct	8	8	3	4	rs34902788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:37154417T>C	ENST00000336686.4	-	8	507	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K143E|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K112E|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	143	DVL3-binding.|Ser-rich.		K -> E (in dbSNP:rs34902788).		Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGTAGGTCTTTATGAGAATCA	0.368													T|||	72	0.014377	0.0514	0.0058	5008	,	,		18111	0.0		0.0	False		,,,				2504	0.0				p.K143E		Atlas-SNP	.											.	LRRFIP2	71	.	1	Whole gene deletion(1)	ovary(1)	c.A427G						PASS	.	T	,GLU/LYS,	190,4216	120.4+/-158.0	7,176,2020	128	128	128		,427,	4.3	1	3	dbSNP_126	128	2,8598	1.2+/-3.3	0,2,4298	yes	intron,missense,intron	LRRFIP2	NM_001134369.1,NM_006309.2,NM_017724.2	,56,	7,178,6318	CC,CT,TT		0.0233,4.3123,1.4762	,possibly-damaging,	,143/722,	37154417	192,12814	2203	4300	6503	SO:0001583	missense	9209	exon9			GGTCTTTATGAGA	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.427A>G	3.37:g.37154417T>C	ENSP00000338727:p.Lys143Glu	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	46	16	0.347826	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	T	10.81	1.454776	0.26161	0.043123	2.33E-4	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.48201	0.82;0.82;0.87	5.52	4.29	0.51040	.	0.266541	0.34959	N	0.003544	T	0.06554	0.0168	N	0.08118	0	0.29065	N	0.883669	B;B	0.27853	0.076;0.191	B;B	0.28465	0.077;0.09	T	0.04153	-1.0973	10	0.12766	T	0.61	-16.635	12.8465	0.57833	0.0:0.0:0.1352:0.8648	rs34902788	112;143	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	143;143;112	ENSP00000392217:K143E;ENSP00000338727:K143E;ENSP00000379705:K112E	ENSP00000338727:K143E	K	-	1	0	LRRFIP2	37129421	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	3.954000	0.56708	2.232000	0.73038	0.482000	0.46254	AAA	T|0.987;C|0.013	0.013	strong		0.368	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		C	37154417	T	C	37154417	3	2	22	1	0	0	0	0	1	0	0	0	9028	1763	61	2	1822	2	LRRFIP2	3	37154417	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9937	37154417	160868013	2028	7136										
GOLGA4	2803	hgsc.bcm.edu	37	chr3	37323569	37323569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctaaagagtctttggtaCgaacatcttccagagaatcc	7	10	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:37323569C>T	ENST00000361924.2	+	3	657	c.283C>T	c.(283-285)Cga>Tga	p.R95*	GOLGA4_ENST00000435830.2_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.R117*|GOLGA4_ENST00000444882.1_Nonsense_Mutation_p.R95*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	95					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTCTTTGGTACGAACATCTTC	0.488																																					p.R117X		Atlas-SNP	.											GOLGA4,NS,carcinoma,-1,2	GOLGA4	173	2	0			c.C349T						scavenged	.						98	98	98					3																	37323569		2203	4300	6503	SO:0001587	stop_gained	2803	exon4			TTGGTACGAACAT	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.283C>T	3.37:g.37323569C>T	ENSP00000354486:p.Arg95*	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	39	7.556932	0.98355	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	.	.	.	5.8	5.8	0.92144	.	0.000000	0.30565	N	0.009342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	.	.	.	X	95;95;117;117	.	ENSP00000349305:R117X	R	+	1	2	GOLGA4	37298573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.456000	0.60081	2.744000	0.94065	0.655000	0.94253	CGA	.	.	none		0.488	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37323569	C	T	37323569	4	4	22	1	0	0	0	0	0	1	0	0	6555	528	19	1	363	1	GOLGA4	3	37323569	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	169152	37323569	160698861	2029	7137										
ITGA9	3680	hgsc.bcm.edu	37	chr3	37536020	37536020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagtacggagaggaacaCggctcctgccaggctgggat	15	9	0	2	rs62001860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:37536020C>T	ENST00000264741.5	+	5	829	c.573C>T	c.(571-573)caC>caT	p.H191H	ITGA9_ENST00000422441.1_Silent_p.H191H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	191					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GAGAGGAACACGGCTCCTGCC	0.532													C|||	36	0.0071885	0.0272	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0				p.H191H		Atlas-SNP	.											.	ITGA9	98	.	0			c.C573T						PASS	.	C		68,4338	64.1+/-101.4	0,68,2135	152	152	152		573	-0.1	1	3	dbSNP_129	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA9	NM_002207.2		0,69,6434	TT,TC,CC		0.0116,1.5433,0.5305		191/1036	37536020	69,12937	2203	4300	6503	SO:0001819	synonymous_variant	3680	exon5			GGAACACGGCTCC	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.573C>T	3.37:g.37536020C>T		Somatic	326	1	0.00306748		WXS	Illumina HiSeq	Phase_I	312	150	0.480769	NM_002207	Q14638	Silent	SNP	ENST00000264741.5	37	CCDS2669.1																																																																																			C|0.994;T|0.006	0.006	strong		0.532	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		T	37536020	C	T	37536020	2	4	22	1	0	0	0	0	0	0	0	1	7883	535	19	1		1	ITGA9	3	37536020	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	212451	37536020	160486410	2030	7138										
VILL	50853	hgsc.bcm.edu	37	chr3	38038982	38038982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcccgcaggggctggcTttgacctacagcctccggga	12	16	1	1	rs6809649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38038982T>C	ENST00000283713.6	+	7	836	c.570T>C	c.(568-570)gcT>gcC	p.A190A	VILL_ENST00000383759.2_Silent_p.A190A|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	190					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGGCTGGCTTTGACCTACA	0.607													C|||	1182	0.236022	0.4304	0.1398	5008	,	,		18461	0.0863		0.1441	False		,,,				2504	0.2904				p.A190A		Atlas-SNP	.											.	VILL	61	.	0			c.T570C						PASS	.	C		1760,2646	641.1+/-397.4	346,1068,789	62	61	61		570	3.5	0.7	3	dbSNP_116	61	1488,7112	747.8+/-407.3	125,1238,2937	no	coding-synonymous	VILL	NM_015873.3		471,2306,3726	CC,CT,TT		17.3023,39.9455,24.9731		190/857	38038982	3248,9758	2203	4300	6503	SO:0001819	synonymous_variant	50853	exon6			GCTGGCTTTGACC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.570T>C	3.37:g.38038982T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			T|0.768;C|0.232	0.232	strong		0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		C	38038982	T	C	38038982	2	2	22	1	0	0	0	0	0	0	0	1	17162	1596	56	3		3	VILL	3	38038982	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	502962	38038982	159983448	2031	7139										
VILL	50853	hgsc.bcm.edu	37	chr3	38047954	38047954	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacaggaagtcaacaacttGcggctatccagatggccggg	14	10	1	1	rs9816693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38047954G>C	ENST00000283713.6	+	19	2486	c.2220G>C	c.(2218-2220)ttG>ttC	p.L740F	VILL_ENST00000465644.1_Missense_Mutation_p.L458F|VILL_ENST00000383759.2_Missense_Mutation_p.L740F			O15195	VILL_HUMAN	villin-like	740			L -> F (in dbSNP:rs9816693).		actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.L740F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCAACAACTTGCGGCTATCCA	0.617													C|||	1164	0.232428	0.4168	0.1383	5008	,	,		17942	0.0863		0.1441	False		,,,				2504	0.2914				p.L740F		Atlas-SNP	.											VILL,NS,carcinoma,0,1	VILL	61	1	1	Substitution - Missense(1)	stomach(1)	c.G2220C						scavenged	.	C	PHE/LEU	1635,2753		309,1017,868	74	88	83		2220	2.3	0.5	3	dbSNP_119	83	1448,7118		121,1206,2956	yes	missense	VILL	NM_015873.3	22	430,2223,3824	CC,CG,GG		16.904,37.2607,23.7996	benign	740/857	38047954	3083,9871	2194	4283	6477	SO:0001583	missense	50853	exon18			CAACTTGCGGCTA		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2220G>C	3.37:g.38047954G>C	ENSP00000283713:p.Leu740Phe	Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	389	0.17811355311355312	194	0.3943089430894309	44	0.12154696132596685	45	0.07867132867132867	106	0.13984168865435356	C	0.885	-0.727332	0.03158	0.372607	0.16904	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.14516	2.58;2.58;2.5	3.14	2.26	0.28386	.	0.479810	0.20403	N	0.093008	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.44086	T	0.13	-11.3814	4.5018	0.11867	0.0:0.6389:0.2314:0.1297	rs9816693;rs58692772;rs9816693	740	O15195	VILL_HUMAN	F	740;740;726;458	ENSP00000283713:L740F;ENSP00000373266:L740F;ENSP00000422096:L458F	ENSP00000283713:L740F	L	+	3	2	VILL	38022958	0.001000	0.12720	0.499000	0.27577	0.691000	0.40173	-0.005000	0.12855	0.379000	0.24794	-0.357000	0.07601	TTG	G|0.800;C|0.200	0.200	strong		0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		C	38047954	G	C	38047954	3	2	22	1	0	0	0	0	1	0	0	0	17162	1310	46	4	2290	4	VILL	3	38047954	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8972	38047954	159974476	2032	7140										
PLCD1	5333	hgsc.bcm.edu	37	chr3	38051941	38051941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaccaggtagtggctaagTggctggcccatgtcctggta	14	10	0	0	rs9857730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38051941T>C	ENST00000334661.4	-	6	1125	c.903A>G	c.(901-903)ccA>ccG	p.P301P	PLCD1_ENST00000463876.1_Silent_p.P322P|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	301	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGTGGCTAAGTGGCTGGCCCA	0.612													C|||	1336	0.266773	0.5053	0.1657	5008	,	,		19691	0.0863		0.1769	False		,,,				2504	0.2945				p.P322P		Atlas-SNP	.											PLCD1_ENST00000463876,NS,carcinoma,0,2	PLCD1	87	2	0			c.A966G						PASS	.	C	,	2062,2344	607.3+/-390.9	479,1104,620	55	56	56		966,903	-5.7	0.8	3	dbSNP_119	56	1808,6792	731.9+/-406.8	181,1446,2673	no	coding-synonymous,coding-synonymous	PLCD1	NM_001130964.1,NM_006225.3	,	660,2550,3293	CC,CT,TT		21.0233,46.7998,29.7555	,	322/778,301/757	38051941	3870,9136	2203	4300	6503	SO:0001819	synonymous_variant	5333	exon6			GCTAAGTGGCTGG		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.903A>G	3.37:g.38051941T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	159	75	0.471698	NM_001130964	B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	CCDS2671.1																																																																																			T|0.725;C|0.275	0.275	strong		0.612	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			C	38051941	T	C	38051941	2	2	22	1	0	0	0	0	0	0	0	1	12031	1683	59	2		2	PLCD1	3	38051941	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3987	38051941	159970489	2033	7141										
PLCD1	5333	hgsc.bcm.edu	37	chr3	38052725	38052725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtctcgctgggctcgtagCgctcaatgagggagagggcc	16	11	2	2	rs933135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38052725C>T	ENST00000334661.4	-	5	992	c.770G>A	c.(769-771)cGc>cAc	p.R257H	PLCD1_ENST00000463876.1_Missense_Mutation_p.R278H|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	257			R -> H (in dbSNP:rs933135).		angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGGCTCGTAGCGCTCAATGAG	0.672													C|||	316	0.063099	0.0	0.0303	5008	,	,		16535	0.1825		0.0149	False		,,,				2504	0.0982				p.R278H		Atlas-SNP	.											.	PLCD1	87	.	0			c.G833A	GRCh37	CM067709	PLCD1	M	rs933135	PASS	.	C	HIS/ARG,HIS/ARG	16,4390		0,16,2187	28	29	29		833,770	4.9	1	3	dbSNP_86	29	152,8444		0,152,4146	yes	missense,missense	PLCD1	NM_001130964.1,NM_006225.3	29,29	0,168,6333	TT,TC,CC		1.7683,0.3631,1.2921	possibly-damaging,possibly-damaging	278/778,257/757	38052725	168,12834	2203	4298	6501	SO:0001583	missense	5333	exon5			TCGTAGCGCTCAA		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.770G>A	3.37:g.38052725C>T	ENSP00000335600:p.Arg257His	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	59	20	0.338983	NM_001130964	B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	CCDS2671.1	124	0.056776556776556776	1	0.0020325203252032522	8	0.022099447513812154	100	0.17482517482517482	15	0.01978891820580475	C	18.23	3.577339	0.65878	0.003631	0.017683	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.46451	0.87;0.87	4.95	4.95	0.65309	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.102292	0.64402	D	0.000003	T	0.00271	0.0008	M	0.75615	2.305	0.26759	P	0.9700436	D;P	0.62365	0.991;0.792	P;B	0.61201	0.885;0.132	T	0.15723	-1.0427	9	0.62326	D	0.03	.	9.8655	0.41140	0.0:0.8434:0.0:0.1566	rs933135;rs52803102;rs933135	257;278	P51178;B3KR14	PLCD1_HUMAN;.	H	278;257	ENSP00000430344:R278H;ENSP00000335600:R257H	ENSP00000335600:R257H	R	-	2	0	PLCD1	38027729	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.560000	0.36331	2.677000	0.91161	0.655000	0.94253	CGC	C|0.958;A|0.000	.	strong		0.672	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			T	38052725	C	T	38052725	3	4	22	1	0	0	0	0	1	0	0	0	12031	768	27	1	1544	1	PLCD1	3	38052725	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	784	38052725	159969705	2034	7142										
SLC22A14	9389	hgsc.bcm.edu	37	chr3	38347633	38347633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctctggagatgctgttacGcagattgagggctgtccaca	13	9	1	3	rs34043027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38347633G>A	ENST00000273173.4	+	1	207	c.116G>A	c.(115-117)cGc>cAc	p.R39H	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGCTGTTACGCAGATTGAGG	0.537													G|||	376	0.0750799	0.0726	0.0605	5008	,	,		22758	0.1617		0.0596	False		,,,				2504	0.0153				p.R39H		Atlas-SNP	.											SLC22A14,NS,lymphoid_neoplasm,+1,1	SLC22A14	64	1	0			c.G116A						PASS	.	G	HIS/ARG	320,4086	172.3+/-202.3	14,292,1897	187	166	173		116	-4.6	0	3	dbSNP_126	173	405,8195	129.5+/-187.6	12,381,3907	yes	missense	SLC22A14	NM_004803.3	29	26,673,5804	AA,AG,GG		4.7093,7.2628,5.5744	benign	39/595	38347633	725,12281	2203	4300	6503	SO:0001583	missense	9389	exon1			TGTTACGCAGATT	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.116G>A	3.37:g.38347633G>A	ENSP00000273173:p.Arg39His	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	171	87	0.508772	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	197	0.0902014652014652	42	0.08536585365853659	19	0.052486187845303865	85	0.1486013986013986	51	0.06728232189973615	G	7.254	0.603853	0.14002	0.072628	0.047093	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36520	1.25;1.25	4.33	-4.6	0.03390	.	6.492390	0.00622	N	0.000455	T	0.00144	0.0004	L	0.32530	0.975	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.09751	-1.0660	9	0.30078	T	0.28	.	6.9982	0.24795	0.5288:0.0:0.356:0.1152	rs34043027	39	Q9Y267	S22AE_HUMAN	H	39	ENSP00000396283:R39H;ENSP00000273173:R39H	ENSP00000273173:R39H	R	+	2	0	SLC22A14	38322637	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.755000	0.04782	-1.068000	0.03156	-1.817000	0.00601	CGC	G|0.933;A|0.067	0.067	strong		0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		A	38347633	G	A	38347633	3	1	22	1	0	0	0	0	1	0	0	0	14445	1087	38	1	118	1	SLC22A14	3	38347633	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	294908	38347633	159674797	2035	7143										
SLC22A14	9389	hgsc.bcm.edu	37	chr3	38347851	38347851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgggcccccacctgtccAaagctgagcagctgaatctg	11	14	1	2	rs2073714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38347851A>G	ENST00000273173.4	+	1	425	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.K112E	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	112			K -> E (in dbSNP:rs2073714).		organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCACCTGTCCAAAGCTGAGCA	0.522													G|||	376	0.0750799	0.0726	0.0605	5008	,	,		22352	0.1617		0.0596	False		,,,				2504	0.0153				p.K112E		Atlas-SNP	.											SLC22A14,NS,carcinoma,0,1	SLC22A14	64	1	0			c.A334G						PASS	.	G	GLU/LYS	319,4087	796.9+/-415.4	14,291,1898	112	103	106		334	3.3	0	3	dbSNP_96	106	404,8196	801.0+/-407.4	12,380,3908	yes	missense	SLC22A14	NM_004803.3	56	26,671,5806	GG,GA,AA		4.6977,7.2401,5.559	benign	112/595	38347851	723,12283	2203	4300	6503	SO:0001583	missense	9389	exon1			CTGTCCAAAGCTG	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.334A>G	3.37:g.38347851A>G	ENSP00000273173:p.Lys112Glu	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	167	100	0.598802	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	197	0.0902014652014652	42	0.08536585365853659	19	0.052486187845303865	85	0.1486013986013986	51	0.06728232189973615	G	0.005	-2.124684	0.00342	0.072401	0.046977	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.34275	1.37;1.37	5.5	3.35	0.38373	.	1.064140	0.07446	N	0.898203	T	0.00039	0.0001	N	0.00088	-2.19	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	9	0.02654	T	1	.	9.9749	0.41777	0.2802:0.0:0.7198:0.0	rs2073714;rs56645827;rs2073714	112	Q9Y267	S22AE_HUMAN	E	112	ENSP00000396283:K112E;ENSP00000273173:K112E	ENSP00000273173:K112E	K	+	1	0	SLC22A14	38322855	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.093000	0.15086	0.822000	0.34565	-0.733000	0.03571	AAA	A|0.927;G|0.073	0.073	strong		0.522	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		G	38347851	A	G	38347851	3	3	22	1	0	0	0	0	1	0	0	0	14445	131	5	2	336	2	SLC22A14	3	38347851	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	218	38347851	159674579	2036	7144										
ACVR2B	93	hgsc.bcm.edu	37	chr3	38523754	38523754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaacttccagagagatgcCttcctgcgcattgacatgta	8	11	1	3	rs149695736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38523754C>T	ENST00000352511.4	+	9	1612	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGAGAGATGCCTTCCTGCGCA	0.572													C|||	8	0.00159744	0.0061	0.0	5008	,	,		21138	0.0		0.0	False		,,,				2504	0.0				p.A380A		Atlas-SNP	.											ACVR2B_ENST00000352511,caecum,carcinoma,0,2	ACVR2B	88	2	0			c.C1140T						PASS	.	C		10,4396	16.8+/-37.8	0,10,2193	128	96	107		1140	3.5	1	3	dbSNP_134	107	0,8600		0,0,4300	yes	coding-synonymous	ACVR2B	NM_001106.3		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		380/513	38523754	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	93	exon9			AGATGCCTTCCTG	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1140C>T	3.37:g.38523754C>T		Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	277	141	0.509025	NM_001106	Q4VAV0	Silent	SNP	ENST00000352511.4	37	CCDS2679.1																																																																																			C|0.999;T|0.001	0.001	strong		0.572	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		T	38523754	C	T	38523754	2	4	22	1	0	0	0	0	0	0	0	1	224	668	24	2		2	ACVR2B	3	38523754	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	175903	38523754	159498676	2037	7145										
SCN5A	6331	hgsc.bcm.edu	37	chr3	38592356	38592356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgggcaggtccatgttgAtgaggcttatctggttgggc	15	8	1	2	rs45563942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38592356A>G	ENST00000333535.4	-	28	5656	c.5507T>C	c.(5506-5508)aTc>aCc	p.I1836T	SCN5A_ENST00000413689.1_Missense_Mutation_p.I1836T|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.I1782T|SCN5A_ENST00000425664.1_Missense_Mutation_p.I1818T|SCN5A_ENST00000450102.2_Missense_Mutation_p.I1782T|SCN5A_ENST00000414099.2_Missense_Mutation_p.I1818T|SCN5A_ENST00000443581.1_Missense_Mutation_p.I1835T|SCN5A_ENST00000455624.2_Missense_Mutation_p.I1803T|SCN5A_ENST00000423572.2_Missense_Mutation_p.I1835T|SCN5A_ENST00000449557.2_Missense_Mutation_p.I1782T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1836					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCATGTTGATGAGGCTTAT	0.552													A|||	8	0.00159744	0.0061	0.0	5008	,	,		21013	0.0		0.0	False		,,,				2504	0.0				p.I1836T		Atlas-SNP	.											.	SCN5A	634	.	0			c.T5507C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	11,4249		0,11,2119	85	92	90		5504,5507,5453,5408,5345,5507	4.8	1	3	dbSNP_127	90	0,8484		0,0,4242	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	89,89,89,89,89,89	0,11,6361	GG,GA,AA		0.0,0.2582,0.0863	benign,benign,benign,benign,benign,benign	1835/2016,1836/2017,1818/1999,1803/1984,1782/1963,1836/2017	38592356	11,12733	2130	4242	6372	SO:0001583	missense	6331	exon28			ATGTTGATGAGGC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5507T>C	3.37:g.38592356A>G	ENSP00000328968:p.Ile1836Thr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	72	37	0.513889	NM_198056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	16.43	3.122483	0.56613	0.002582	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96427	-3.92;-3.93;-3.93;-4.0;-3.93;-3.92;-3.93;-4.01;-4.0;-4.0	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	M	0.89095	3.005	0.49213	D	0.999767	B;P;B;B;B;B	0.50710	0.146;0.938;0.07;0.17;0.065;0.261	B;D;B;P;B;P	0.73380	0.379;0.98;0.265;0.547;0.351;0.734	D	0.96083	0.9055	10	0.66056	D	0.02	.	14.5421	0.68002	1.0:0.0:0.0:0.0	rs45563942	1782;1803;1818;1836;1835;1836	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	1818;1835;1836;1782;1835;1818;1836;1803;1782;1782	ENSP00000398962:I1818T;ENSP00000398266:I1835T;ENSP00000410257:I1836T;ENSP00000388797:I1782T;ENSP00000397915:I1835T;ENSP00000416634:I1818T;ENSP00000328968:I1836T;ENSP00000399524:I1803T;ENSP00000403355:I1782T;ENSP00000413996:I1782T	ENSP00000328968:I1836T	I	-	2	0	SCN5A	38567360	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.133000	0.94460	2.025000	0.59659	0.460000	0.39030	ATC	A|0.999;G|0.001	0.001	strong		0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		G	38592356	A	G	38592356	3	3	22	1	0	0	0	0	1	0	0	0	13922	333	12	2	547	2	SCN5A	3	38592356	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	68602	38592356	159430074	2038	7146										
SCN5A	6331	hgsc.bcm.edu	37	chr3	38592406	38592406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagtggctcagacagggcAtcggcaaagtcagacaggac	15	10	2	2	rs1805126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38592406A>G	ENST00000333535.4	-	28	5606	c.5457T>C	c.(5455-5457)gaT>gaC	p.D1819D	SCN5A_ENST00000413689.1_Silent_p.D1819D|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.D1765D|SCN5A_ENST00000425664.1_Silent_p.D1801D|SCN5A_ENST00000450102.2_Silent_p.D1765D|SCN5A_ENST00000414099.2_Silent_p.D1801D|SCN5A_ENST00000443581.1_Silent_p.D1818D|SCN5A_ENST00000455624.2_Silent_p.D1786D|SCN5A_ENST00000423572.2_Silent_p.D1818D|SCN5A_ENST00000449557.2_Silent_p.D1765D			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1819			D -> N (in LQT3; digenic; associated with Gly-100 mutation on the KCNH2 gene). {ECO:0000269|PubMed:16922724}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGACAGGGCATCGGCAAAGT	0.517													A|||	2466	0.492412	0.7042	0.4265	5008	,	,		20365	0.5784		0.3648	False		,,,				2504	0.2955				p.D1819D		Atlas-SNP	.											.	SCN5A	634	.	0			c.T5457C	GRCh37	CM057565	SCN5A	M	rs1805126	PASS	.	A	,,,,,	2694,1612		858,978,317	58	65	63		5454,5457,5403,5358,5295,5457	-8.1	0.4	3	dbSNP_89	63	2850,5694		489,1872,1911	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	1347,2850,2228	GG,GA,AA		33.3567,37.4361,43.144	,,,,,	1818/2016,1819/2017,1801/1999,1786/1984,1765/1963,1819/2017	38592406	5544,7306	2153	4272	6425	SO:0001819	synonymous_variant	6331	exon28			CAGGGCATCGGCA	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5457T>C	3.37:g.38592406A>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	89	48	0.539326	NM_198056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																			A|0.498;G|0.502	0.502	strong		0.517	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		G	38592406	A	G	38592406	2	3	22	1	0	0	0	0	0	0	0	1	13922	214	8	2		2	SCN5A	3	38592406	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50	38592406	159430024	2039	7147										
SCN10A	6336	hgsc.bcm.edu	37	chr3	38770198	38770198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtgccagcggggccagtcTtcatggggcgcggagatatt	16	9	2	1	rs146028829		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38770198T>G	ENST00000449082.2	-	15	2474	c.2475A>C	c.(2473-2475)gaA>gaC	p.E825D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	825					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E825D(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGGGCCAGTCTTCATGGGGCG	0.517													T|||	1	0.000199681	0.0	0.0	5008	,	,		18556	0.0		0.001	False		,,,				2504	0.0				p.E825D		Atlas-SNP	.											SCN10A,NS,carcinoma,0,2	SCN10A	359	2	1	Substitution - Missense(1)	kidney(1)	c.A2475C						PASS	.	T	ASP/GLU	2,4404	4.2+/-10.8	0,2,2201	121	117	118		2475	-9.4	0	3	dbSNP_134	118	19,8581	14.6+/-50.1	0,19,4281	yes	missense	SCN10A	NM_006514.2	45	0,21,6482	GG,GT,TT		0.2209,0.0454,0.1615	benign	825/1957	38770198	21,12985	2203	4300	6503	SO:0001583	missense	6336	exon15			CCAGTCTTCATGG	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2475A>C	3.37:g.38770198T>G	ENSP00000390600:p.Glu825Asp	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	347	160	0.461095	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	3.068	-0.191656	0.06299	4.54E-4	0.002209	ENSG00000185313	ENST00000449082	D	0.98531	-4.98	4.73	-9.45	0.00600	Ion transport (1);	1.276660	0.04859	N	0.443792	D	0.93058	0.7790	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.86553	0.1836	10	0.45353	T	0.12	.	6.9757	0.24674	0.0871:0.3789:0.4161:0.1179	.	825	Q9Y5Y9	SCNAA_HUMAN	D	825	ENSP00000390600:E825D	ENSP00000390600:E825D	E	-	3	2	SCN10A	38745202	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.935000	0.01550	-2.903000	0.00311	0.533000	0.62120	GAA	T|0.999;G|0.001	0.001	strong		0.517	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		G	38770198	T	G	38770198	3	3	22	1	0	0	0	0	1	0	0	0	13912	1606	56	5	3447	5	SCN10A	3	38770198	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	177792	38770198	159252232	2040	7148										
SCN11A	11280	hgsc.bcm.edu	37	chr3	38945560	38945560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggatgccaggttttctccAcaagggagacaaggctcttg	12	9	2	1	rs4073113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:38945560A>G	ENST00000302328.3	-	12	1836	c.1638T>C	c.(1636-1638)tgT>tgC	p.C546C	SCN11A_ENST00000444237.2_Silent_p.C546C|SCN11A_ENST00000456224.3_Silent_p.C546C|SCN11A_ENST00000450244.1_Silent_p.C546C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	546					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTTTTCTCCACAAGGGAGAC	0.507													G|||	3067	0.61242	0.4864	0.6888	5008	,	,		19281	0.6369		0.6471	False		,,,				2504	0.6677				p.C546C		Atlas-SNP	.											.	SCN11A	296	.	0			c.T1638C						PASS	.	G		2306,2100	575.0+/-383.9	590,1126,487	131	110	117		1638	-0.8	1	3	dbSNP_108	117	5594,3006	463.5+/-366.0	1832,1930,538	no	coding-synonymous	SCN11A	NM_014139.2		2422,3056,1025	GG,GA,AA		34.9535,47.6623,39.2588		546/1792	38945560	7900,5106	2203	4300	6503	SO:0001819	synonymous_variant	11280	exon12			TTCTCCACAAGGG	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1638T>C	3.37:g.38945560A>G		Somatic	188	1	0.00531915		WXS	Illumina HiSeq	Phase_I	140	139	0.992857	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																			A|0.397;G|0.603	0.603	strong		0.507	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		G	38945560	A	G	38945560	2	3	22	1	0	0	0	0	0	0	0	1	13913	157	6	2		2	SCN11A	3	38945560	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	175362	38945560	159076870	2041	7149										
TTC21A	199223	hgsc.bcm.edu	37	chr3	39166887	39166887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggaggaagagaccacagCgctcctgaaggaggcagtgg	19	8	0	2	rs74824603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39166887C>T	ENST00000431162.2	+	11	1414	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	TTC21A_ENST00000301819.6_Missense_Mutation_p.A427V|TTC21A_ENST00000440121.1_Missense_Mutation_p.A378V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	427										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGACCACAGCGCTCCTGAAG	0.552											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	12	0.00239617	0.0083	0.0014	5008	,	,		22490	0.0		0.0	False		,,,				2504	0.0				p.A427V		Atlas-SNP	.											.	TTC21A	96	.	0			c.C1280T						PASS	.						74	74	74					3																	39166887		2029	4198	6227	SO:0001583	missense	199223	exon11			CCACAGCGCTCCT	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1280C>T	3.37:g.39166887C>T	ENSP00000398211:p.Ala427Val	Somatic	129	0	0	883	WXS	Illumina HiSeq	Phase_I	130	61	0.469231	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288299	0.10513	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.36157	1.27;1.27;1.27	5.73	0.827	0.18835	.	0.834776	0.10720	N	0.641804	T	0.21022	0.0506	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21309	0.031;0.054;0.032	B;B;B	0.12156	0.007;0.004;0.005	T	0.24657	-1.0154	10	0.27785	T	0.31	-0.2644	1.2509	0.01982	0.2566:0.4043:0.1248:0.2143	.	378;427;427	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	427;409;427;378	ENSP00000301819:A427V;ENSP00000398211:A427V;ENSP00000410882:A378V	ENSP00000301819:A427V	A	+	2	0	TTC21A	39141891	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.215000	0.17562	0.074000	0.16767	0.609000	0.83330	GCG	A|0.004;C|0.994;T|0.001	0.001	strong		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39166887	C	T	39166887	3	4	22	1	0	0	0	0	1	0	0	0	16684	768	27	1	1322	1	TTC21A	3	39166887	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	221327	39166887	158855543	2042	7150										
TTC21A	199223	hgsc.bcm.edu	37	chr3	39180099	39180099	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaatttgtggaggccatTgaaatctgcaacgatgtaag					rs784498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39180099T>C	ENST00000431162.2	+	28	4004	c.3870T>C	c.(3868-3870)atT>atC	p.I1290I	TTC21A_ENST00000301819.6_Silent_p.I1291I|TTC21A_ENST00000440121.1_Silent_p.I1242I|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1290										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGAGGCCATTGAAATCTGCA	0.527													C|||	3540	0.706869	0.5189	0.7435	5008	,	,		21037	0.7669		0.7654	False		,,,				2504	0.8129				p.I1290I		Atlas-SNP	.											.	TTC21A	96	.	0			c.T3870C						PASS	.	C	,	2435,1579		739,957,311	112	110	110		3726,3870	-10.3	0.5	3	dbSNP_86	110	6255,2071		2385,1485,293	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	3124,2442,604	CC,CT,TT		24.8739,39.3373,29.5786	,	1242/1273,1290/1321	39180099	8690,3650	2007	4163	6170	SO:0001819	synonymous_variant	199223	exon28			GGCCATTGAAATC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3870T>C	3.37:g.39180099T>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	229	229	1	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	CCDS46800.1																																																																																			T|0.306;C|0.694	0.694	strong		0.527	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		C	39180099	T	C	39180099	2	2	22	1	0	0	0	0	0	0	0	1	16684	1800	63	2		2	TTC21A	3	39180099	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13212	39180099	158842331	2043	7151	141	2								
TTC21A	199223	hgsc.bcm.edu	37	chr3	39180100	39180100	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaatttgtggaggccattGaaatctgcaacgatgtaagc					rs80238762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39180100G>A	ENST00000431162.2	+	28	4005	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	TTC21A_ENST00000301819.6_Missense_Mutation_p.E1292K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E1243K|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1291				E -> K (in Ref. 2; BAG63755). {ECO:0000305}.						NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGGCCATTGAAATCTGCAA	0.522													G|||	29	0.00579073	0.0008	0.0173	5008	,	,		20962	0.0		0.0159	False		,,,				2504	0.0				p.E1291K		Atlas-SNP	.											.	TTC21A	96	.	0			c.G3871A						PASS	.	G	LYS/GLU,LYS/GLU	8,3990		0,8,1991	113	110	111		3727,3871	5.1	0.9	3	dbSNP_132	111	91,8241		1,89,4076	yes	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	56,56	1,97,6067	AA,AG,GG		1.0922,0.2001,0.8029	possibly-damaging,possibly-damaging	1243/1273,1291/1321	39180100	99,12231	1999	4166	6165	SO:0001583	missense	199223	exon28			GCCATTGAAATCT	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3871G>A	3.37:g.39180100G>A	ENSP00000398211:p.Glu1291Lys	Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	236	111	0.470339	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	15	0.006868131868131868	0	0.0	7	0.019337016574585635	0	0.0	8	0.010554089709762533	G	22.7	4.325101	0.81580	0.002001	0.010922	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.78481	-1.18;-1.18;-1.18	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151938	0.42682	D	0.000679	T	0.72486	0.3466	M	0.64170	1.965	0.58432	D	0.999999	P;D;P	0.55605	0.921;0.972;0.953	P;P;P	0.53912	0.497;0.737;0.551	T	0.78620	-0.2133	10	0.41790	T	0.15	-2.9838	17.3579	0.87342	0.0:0.0:1.0:0.0	.	1243;1292;1291	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	1292;1274;1291;1243	ENSP00000301819:E1292K;ENSP00000398211:E1291K;ENSP00000410882:E1243K	ENSP00000301819:E1292K	E	+	1	0	TTC21A	39155104	1.000000	0.71417	0.918000	0.36340	0.278000	0.26855	7.431000	0.80335	2.377000	0.81083	0.561000	0.74099	GAA	G|0.989;A|0.011	0.011	strong		0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39180100	G	A	39180100	3	1	22	1	0	0	0	0	1	0	0	0	16684	1291	45	2	3984	2	TTC21A	3	39180100	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	39180100	158842330	2044	7152	141	2								
TTC21A	199223	hgsc.bcm.edu	37	chr3	39180263	39180263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattttggaaaaggcccgaaGgtccctgaggccctagctgg	13	10	0	1	rs704959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39180263G>A	ENST00000431162.2	+	29	4081	c.3947G>A	c.(3946-3948)aGg>aAg	p.R1316K	TTC21A_ENST00000301819.6_Missense_Mutation_p.R1317K|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1268K|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1316			R -> K (in dbSNP:rs704959). {ECO:0000269|PubMed:12543795}.							NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGGCCCGAAGGTCCCTGAGG	0.562													G|||	2735	0.546126	0.1573	0.6571	5008	,	,		17827	0.7252		0.666	False		,,,				2504	0.6851				p.R1316K		Atlas-SNP	.											.	TTC21A	96	.	0			c.G3947A						PASS	.	G	LYS/ARG,LYS/ARG	984,2752		119,746,1003	53	52	52		3803,3947	4.4	1	3	dbSNP_86	52	5400,2794		1789,1822,486	yes	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	26,26	1908,2568,1489	AA,AG,GG		34.0981,26.3383,46.4878	benign,benign	1268/1273,1316/1321	39180263	6384,5546	1868	4097	5965	SO:0001583	missense	199223	exon29			CCCGAAGGTCCCT	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3947G>A	3.37:g.39180263G>A	ENSP00000398211:p.Arg1316Lys	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	155	155	1	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	1227	0.5618131868131868	82	0.16666666666666666	229	0.6325966850828729	408	0.7132867132867133	508	0.6701846965699209	G	10.82	1.459146	0.26248	0.263383	0.659019	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.60299	0.2;0.2;0.32	5.28	4.41	0.53225	.	0.269330	0.31772	N	0.007087	T	0.00012	0.0000	N	0.22421	0.69	0.45899	P	0.0012579999999999814	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.45789	-0.9237	9	0.05525	T	0.97	-9.0211	4.3881	0.11327	0.0852:0.1533:0.6034:0.1581	rs704959;rs3172272;rs61259562;rs704959	1268;1317;1316	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	1317;1299;1316;1268	ENSP00000301819:R1317K;ENSP00000398211:R1316K;ENSP00000410882:R1268K	ENSP00000301819:R1317K	R	+	2	0	TTC21A	39155267	0.929000	0.31497	0.987000	0.45799	0.936000	0.57629	0.882000	0.28186	1.226000	0.43582	0.561000	0.74099	AGG	G|0.450;A|0.550	0.550	strong		0.562	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39180263	G	A	39180263	3	1	22	1	0	0	0	0	1	0	0	0	16684	1000	35	2	4064	2	TTC21A	3	39180263	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	163	39180263	158842167	2045	7153										
CSRNP1	64651	hgsc.bcm.edu	37	chr3	39184959	39184959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggcattctcatccaggaCgcctgatgtgaagctacagc	11	11	1	2	rs1274958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39184959C>T	ENST00000273153.5	-	5	1534	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	CSRNP1_ENST00000514182.1_Missense_Mutation_p.V453I	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	453			V -> I (in dbSNP:rs1274958). {ECO:0000269|PubMed:11526492, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCATCCAGGACGCCTGATGTG	0.577													T|||	3929	0.784545	0.795	0.7709	5008	,	,		20934	0.7669		0.7694	False		,,,				2504	0.8139				p.V453I		Atlas-SNP	.											.	CSRNP1	59	.	0			c.G1357A						PASS	.	T	ILE/VAL	3547,859	337.8+/-305.0	1433,681,89	63	61	61		1357	0.7	0.6	3	dbSNP_87	61	6479,2121	363.9+/-333.3	2475,1529,296	yes	missense	CSRNP1	NM_033027.3	29	3908,2210,385	TT,TC,CC		24.6628,19.4961,22.9125	benign	453/590	39184959	10026,2980	2203	4300	6503	SO:0001583	missense	64651	exon5			CCAGGACGCCTGA	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1357G>A	3.37:g.39184959C>T	ENSP00000273153:p.Val453Ile	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	1676	0.7673992673992674	388	0.7886178861788617	273	0.7541436464088398	432	0.7552447552447552	583	0.7691292875989446	T	0.017	-1.504416	0.00992	0.805039	0.753372	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.40476	1.03;1.03	4.52	0.7	0.18099	.	0.398778	0.23949	N	0.042971	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.33929	-0.9849	9	0.02654	T	1	-17.6546	4.3409	0.11110	0.2041:0.3105:0.0:0.4854	rs1274958;rs3211112;rs17845849;rs17858820;rs17859256;rs61356983;rs1274958	453	Q96S65	CSRN1_HUMAN	I	453;453;111	ENSP00000273153:V453I;ENSP00000422532:V453I	ENSP00000273153:V453I	V	-	1	0	CSRNP1	39159963	0.004000	0.15560	0.631000	0.29282	0.483000	0.33249	-0.140000	0.10342	0.068000	0.16574	-0.254000	0.11334	GTC	T|0.767;G|0.005	0.767	strong		0.577	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		T	39184959	C	T	39184959	3	4	22	1	0	0	0	0	1	0	0	0	3963	536	19	1	416	1	CSRNP1	3	39184959	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4696	39184959	158837471	2046	7154										
CSRNP1	64651	hgsc.bcm.edu	37	chr3	39185077	39185077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgtccaggttccccacGctcccttcctcctcttcctc	6	19	1	0	rs1274957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39185077G>A	ENST00000273153.5	-	5	1416	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	CSRNP1_ENST00000514182.1_Silent_p.S413S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	413					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGTTCCCCACGCTCCCTTCCT	0.582													A|||	2460	0.491214	0.115	0.6239	5008	,	,		21304	0.5724		0.6551	False		,,,				2504	0.6534				p.S413S		Atlas-SNP	.											.	CSRNP1	59	.	0			c.C1239T						PASS	.	A		870,3536	741.0+/-411.2	86,698,1419	64	66	65		1239	-7.5	0	3	dbSNP_87	65	5594,3006	460.9+/-365.3	1824,1946,530	no	coding-synonymous	CSRNP1	NM_033027.3		1910,2644,1949	AA,AG,GG		34.9535,19.7458,49.7001		413/590	39185077	6464,6542	2203	4300	6503	SO:0001819	synonymous_variant	64651	exon5			CCCCACGCTCCCT	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1239C>T	3.37:g.39185077G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	168	71	0.422619	NM_033027	Q69YY5	Silent	SNP	ENST00000273153.5	37	CCDS2682.1																																																																																			G|0.495;A|0.505	0.505	strong		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		A	39185077	G	A	39185077	2	1	22	1	0	0	0	0	0	0	0	1	3963	1078	38	1		1	CSRNP1	3	39185077	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118	39185077	158837353	2047	7155										
XIRP1	165904	hgsc.bcm.edu	37	chr3	39225549	39225549	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgggagcctgggttcctGggtggctctgcctgctcggt	18	10	1	0	rs36091974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39225549G>C	ENST00000340369.3	-	2	5616	c.5388C>G	c.(5386-5388)ccC>ccG	p.P1796P	XIRP1_ENST00000421646.1_Silent_p.P479P|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1796	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGGTTCCTGGGTGGCTCTG	0.602													G|||	121	0.0241613	0.0862	0.0086	5008	,	,		20643	0.0		0.001	False		,,,				2504	0.0				p.P1796P		Atlas-SNP	.											.	XIRP1	173	.	0			c.C5388G						PASS	.	G	,	362,4044	186.4+/-213.3	17,328,1858	126	132	130		,5388	2.4	0	3	dbSNP_126	130	3,8597	3.0+/-9.4	0,3,4297	yes	utr-3,coding-synonymous	XIRP1	NM_001198621.1,NM_194293.2	,	17,331,6155	CC,CG,GG		0.0349,8.2161,2.8064	,	,1796/1844	39225549	365,12641	2203	4300	6503	SO:0001819	synonymous_variant	165904	exon2			GTTCCTGGGTGGC	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5388C>G	3.37:g.39225549G>C		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	214	107	0.5	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																			G|0.973;C|0.027	0.027	strong		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		C	39225549	G	C	39225549	2	2	22	1	0	0	0	0	0	0	0	1	17426	1335	47	4		4	XIRP1	3	39225549	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40472	39225549	158796881	2048	7156										
XIRP1	165904	hgsc.bcm.edu	37	chr3	39228514	39228514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcccctgccctgtgcccGagagcacatacttggcaaga	12	14	0	2	rs61736154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39228514G>A	ENST00000340369.3	-	2	2651	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S808L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	808					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTGTGCCCGAGAGCACATA	0.612													G|||	103	0.0205671	0.0719	0.0058	5008	,	,		19504	0.0		0.0	False		,,,				2504	0.0041				p.S808L		Atlas-SNP	.											.	XIRP1	173	.	0			c.C2423T						PASS	.	G	LEU/SER,LEU/SER	316,4090	169.1+/-199.8	13,290,1900	64	65	65		2423,2423	3.2	0.6	3	dbSNP_129	65	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	XIRP1	NM_001198621.1,NM_194293.2	145,145	13,293,6197	AA,AG,GG		0.0349,7.172,2.4527	benign,benign	808/1122,808/1844	39228514	319,12687	2203	4300	6503	SO:0001583	missense	165904	exon2			GTGCCCGAGAGCA	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2423C>T	3.37:g.39228514G>A	ENSP00000343140:p.Ser808Leu	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	158	73	0.462025	NM_001198621	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	G	3.312	-0.140545	0.06669	0.07172	3.49E-4	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04862	3.54;3.95	4.11	3.23	0.37069	.	0.252041	0.37178	N	0.002208	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41034	-0.9531	10	0.56958	D	0.05	.	10.0728	0.42343	0.1005:0.0:0.8995:0.0	.	808;808	Q702N8;Q702N8-2	XIRP1_HUMAN;.	L	808	ENSP00000379550:S808L;ENSP00000343140:S808L	ENSP00000343140:S808L	S	-	2	0	XIRP1	39203518	0.352000	0.24895	0.624000	0.29186	0.033000	0.12548	1.016000	0.29976	1.099000	0.41499	-0.244000	0.11960	TCG	G|0.977;A|0.023	0.023	strong		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39228514	G	A	39228514	3	1	22	1	0	0	0	0	1	0	0	0	17426	1059	37	1	3112	1	XIRP1	3	39228514	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2965	39228514	158793916	2049	7157										
CX3CR1	1524	hgsc.bcm.edu	37	chr3	39307256	39307256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctccaggaaaatcataaCgttgtagggtgtccagaaga	11	8	2	2	rs3732379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:39307256C>T	ENST00000541347.1	-	2	984	c.745G>A	c.(745-747)Gtt>Att	p.V249I	CX3CR1_ENST00000399220.2_Missense_Mutation_p.V249I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V249I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V281I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	249			V -> I (common polymorphism in Caucasian population; associated with a markedly reduced risk of acute coronary artery disease; associated with higher risk of developing ARMD12; chemotaxis of monocytes of individuals with homozygous Ile-249 and Met-280 genotypes is impaired in the presence of bound CX3CR1 protein; dbSNP:rs3732379). {ECO:0000269|PubMed:10731151, ECO:0000269|PubMed:11264153, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15208270, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAAATCATAACGTTGTAGGGT	0.483													C|||	723	0.144369	0.0893	0.2378	5008	,	,		22318	0.0278		0.2853	False		,,,				2504	0.1278				p.V281I		Atlas-SNP	.											.	CX3CR1	91	.	0			c.G841A	GRCh37	CM000504	CX3CR1	M	rs3732379	PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	515,3329		36,443,1443	112	115	114	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	745,745,841,745	-2.3	0	3	dbSNP_107	114	2281,5975		311,1659,2158	yes	missense,missense,missense,missense	CX3CR1	NM_001171171.1,NM_001171172.1,NM_001171174.1,NM_001337.3	29,29,29,29	347,2102,3601	TT,TC,CC		27.6284,13.3975,23.1074	benign,benign,benign,benign	249/356,249/356,281/388,249/356	39307256	2796,9304	1922	4128	6050	SO:0001583	missense	1524	exon2			TCATAACGTTGTA	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.745G>A	3.37:g.39307256C>T	ENSP00000439140:p.Val249Ile	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	170	76	0.447059	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	380	0.17399267399267399	55	0.11178861788617886	93	0.2569060773480663	20	0.03496503496503497	212	0.2796833773087071	C	0.008	-1.863526	0.00552	0.133975	0.276284	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.77	-2.32	0.06745	GPCR, rhodopsin-like superfamily (1);	0.526611	0.21488	N	0.073733	T	0.00012	0.0000	N	0.10733	0.035	0.80722	P	0.0	B	0.19073	0.033	B	0.17433	0.018	T	0.11299	-1.0593	9	0.02654	T	1	.	12.3125	0.54935	0.0:0.3682:0.0:0.6318	rs3732379;rs17792918;rs52808794;rs59717546;rs3732379	249	P49238	CX3C1_HUMAN	I	249;257;281;249;249	ENSP00000382166:V249I;ENSP00000351059:V281I;ENSP00000439140:V249I;ENSP00000444928:V249I	ENSP00000351059:V281I	V	-	1	0	CX3CR1	39282260	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-1.393000	0.02521	-0.555000	0.06142	-0.794000	0.03295	GTT	C|0.832;T|0.168	0.168	strong		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307256	C	T	39307256	3	4	22	1	0	0	0	0	1	0	0	0	4075	536	19	1	326	1	CX3CR1	3	39307256	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78742	39307256	158715174	2050	7158										
MYRIP	25924	hgsc.bcm.edu	37	chr3	40223771	40223771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagacccctccagtggagGctccatcgaggcagccaagg	13	13	0	2	rs59923220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:40223771G>A	ENST00000302541.6	+	9	1276	c.934G>A	c.(934-936)Gct>Act	p.A312T	MYRIP_ENST00000539167.1_Missense_Mutation_p.A125T|MYRIP_ENST00000425621.1_Missense_Mutation_p.A312T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A312T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A223T|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	312	Myosin-binding.		A -> T (in dbSNP:rs59923220). {ECO:0000269|PubMed:15489334}.		intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCAGTGGAGGCTCCATCGAG	0.567													G|||	391	0.0780751	0.2746	0.0346	5008	,	,		17481	0.0		0.004	False		,,,				2504	0.0				p.A312T		Atlas-SNP	.											.	MYRIP	98	.	0			c.G934A						PASS	.	G	THR/ALA	1037,3369	382.8+/-324.6	108,821,1274	76	77	77		934	0.8	0.1	3	dbSNP_129	77	13,8587	9.8+/-36.6	0,13,4287	yes	missense	MYRIP	NM_015460.2	58	108,834,5561	AA,AG,GG		0.1512,23.5361,8.0732	benign	312/860	40223771	1050,11956	2203	4300	6503	SO:0001583	missense	25924	exon9			GTGGAGGCTCCAT	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.934G>A	3.37:g.40223771G>A	ENSP00000301972:p.Ala312Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	140	62	0.442857	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	161	0.07371794871794872	150	0.3048780487804878	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	G	9.859	1.195685	0.22037	0.235361	0.001512	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.27	0.792	0.18625	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.590955	0.16727	N	0.202020	T	0.00012	0.0000	L	0.40543	1.245	0.54753	P	1.799999999996249E-5	B;B;B	0.22080	0.064;0.001;0.003	B;B;B	0.22152	0.038;0.006;0.009	T	0.43032	-0.9416	8	.	.	.	.	6.3243	0.21234	0.2573:0.0:0.6071:0.1356	rs59923220	223;312;312	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	T	312;312;312;223;125	ENSP00000398665:A312T;ENSP00000301972:A312T;ENSP00000389323:A312T;ENSP00000379519:A223T;ENSP00000438297:A125T	.	A	+	1	0	MYRIP	40198775	0.997000	0.39634	0.096000	0.21009	0.003000	0.03518	0.665000	0.25083	0.211000	0.20683	-0.136000	0.14681	GCT	G|0.927;A|0.073	0.073	strong		0.567	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		A	40223771	G	A	40223771	3	1	22	1	0	0	0	0	1	0	0	0	10100	1203	42	2	964	2	MYRIP	3	40223771	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	916515	40223771	157798659	2051	7159										
MYRIP	25924	hgsc.bcm.edu	37	chr3	40251392	40251392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagcaatgaggctcgggaTccccagactctcacagacac	9	14	2	3	rs1799418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:40251392T>C	ENST00000302541.6	+	11	2055	c.1713T>C	c.(1711-1713)gaT>gaC	p.D571D	MYRIP_ENST00000539167.1_Silent_p.D384D|MYRIP_ENST00000425621.1_Silent_p.D571D|MYRIP_ENST00000444716.1_Silent_p.D571D|MYRIP_ENST00000396217.3_Silent_p.D482D|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	571	Actin-binding.			D -> E (in Ref. 1; AAM43954). {ECO:0000305}.	intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCTCGGGATCCCCAGACTC	0.483													C|||	1843	0.368011	0.2791	0.5216	5008	,	,		19456	0.2589		0.5517	False		,,,				2504	0.3027				p.D571D		Atlas-SNP	.											.	MYRIP	98	.	0			c.T1713C						PASS	.	C		1331,3075	695.1+/-405.9	198,935,1070	108	103	105		1713	1	0	3	dbSNP_89	105	4601,3999	554.4+/-386.5	1261,2079,960	no	coding-synonymous	MYRIP	NM_015460.2		1459,3014,2030	CC,CT,TT		46.5,30.2088,45.6097		571/860	40251392	5932,7074	2203	4300	6503	SO:0001819	synonymous_variant	25924	exon11			TCGGGATCCCCAG	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1713T>C	3.37:g.40251392T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	178	175	0.983146	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	CCDS2689.1																																																																																			C|0.439;N|0.001	0.439	strong		0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		C	40251392	T	C	40251392	2	2	22	1	0	0	0	0	0	0	0	1	10100	1432	50	2		2	MYRIP	3	40251392	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27621	40251392	157771038	2052	7160										
RPL14	9045	hgsc.bcm.edu	37	chr3	40503521	40503529	+	In_Frame_Del	DEL	CTGCTGCTG	CTGCTGCTG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacctggtactaagggtaCtgctgctgctgctgctgctg					rs147295890|rs201931132|rs370958149|rs201325213|rs111899316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTGCTGCTG	CTGCTGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:40503521_40503529delCTGCTGCTG	ENST00000396203.2	+	6	578_586	c.446_454delCTGCTGCTG	c.(445-456)actgctgctgct>act	p.AAA156del	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_In_Frame_Del_p.AAA156del	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTAAGGGTActgctgctgctgctgctgc	0.483																																					p.149_151del		Pindel	.											.	RPL14	21	.	0			c.445_453del						PASS	.																																			SO:0001651	inframe_deletion	9045	exon6			.	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.446_454delCTGCTGCTG	3.37:g.40503530_40503538delCTGCTGCTG	ENSP00000379506:p.Ala156_Ala158del	Somatic	58	.	.		WXS	Illumina HiSeq	Phase_I	81	27	0.333	NM_001034996	Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	In_Frame_Del	DEL	ENST00000396203.2	37	CCDS43070.1																																																																																			.	.	strong		0.483	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		-	40503529	CTGCTGCTG	-	40503521	7	5	22	1	0	1	0	1	0	0	0	0	13561	565	20	0	475	0	RPL14	3	40503521	In_Frame_Del	DEL	CTGCTGCTG	TCGA-G8-6324-01A-11D-2210-10	252129	40503521	157518909	2053	7161										
CTNNB1	1499	hgsc.bcm.edu	37	chr3	41266971	41266971	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagaaacagctcgttgtacCgctgggaccttgcataacct	10	11	0	1	rs3856747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:41266971C>G	ENST00000349496.5	+	5	922	c.642C>G	c.(640-642)acC>acG	p.T214T	CTNNB1_ENST00000453024.1_Silent_p.T207T|CTNNB1_ENST00000396185.3_Silent_p.T214T|CTNNB1_ENST00000405570.1_Silent_p.T214T|CTNNB1_ENST00000396183.3_Silent_p.T214T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	214					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T214T(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCGTTGTACCGCTGGGACCT	0.478		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				C|||	5	0.000998403	0.0038	0.0	5008	,	,		21290	0.0		0.0	False		,,,				2504	0.0				p.T214T	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	CTNNB1,colon,carcinoma,+2,2	CTNNB1	4904	2	1	Substitution - coding silent(1)	cervix(1)	c.C642G						PASS	.						104	99	101					3																	41266971		2203	4300	6503	SO:0001819	synonymous_variant	1499	exon5	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	TTGTACCGCTGGG	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.642C>G	3.37:g.41266971C>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	201	110	0.547264	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																			C|0.994;T|0.006	.	strong		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		G	41266971	C	G	41266971	2	3	22	1	0	0	0	0	0	0	0	1	4016	639	23	4		4	CTNNB1	3	41266971	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	763450	41266971	156755459	2054	7162										
ULK4	54986	hgsc.bcm.edu	37	chr3	41756965	41756965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttacgaggtgaagcactaCaggcatcagggggagacaca	14	8	1	2	rs61744388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:41756965C>T	ENST00000301831.4	-	24	3013	c.2551G>A	c.(2551-2553)Gta>Ata	p.V851I		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	851					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAAGCACTACAGGCATCAGG	0.428													T|||	1330	0.265575	0.5348	0.1628	5008	,	,		17563	0.1478		0.1839	False		,,,				2504	0.18				p.V851I		Atlas-SNP	.											.	ULK4	150	.	0			c.G2551A						PASS	.	T	ILE/VAL	1816,2052		436,944,554	103	104	104		2551	-10.1	0	3	dbSNP_129	104	1420,6868		128,1164,2852	yes	missense	ULK4	NM_017886.2	29	564,2108,3406	TT,TC,CC		17.1332,46.9493,26.6206	benign	851/1276	41756965	3236,8920	1934	4144	6078	SO:0001583	missense	54986	exon24			GCACTACAGGCAT	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2551G>A	3.37:g.41756965C>T	ENSP00000301831:p.Val851Ile	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	550	0.2518315018315018	262	0.532520325203252	57	0.1574585635359116	86	0.15034965034965034	145	0.19129287598944592	T	8.060	0.767962	0.15983	0.469493	0.171332	ENSG00000168038	ENST00000301831	T	0.62941	-0.01	5.72	-10.1	0.00402	Armadillo-type fold (1);	0.423778	0.22435	N	0.060092	T	0.00012	0.0000	N	0.24115	0.695	0.49915	P	1.6599999999999948E-4	B	0.09022	0.002	B	0.10450	0.005	T	0.36768	-0.9734	9	0.25106	T	0.35	.	25.2475	0.99993	0.0:0.8218:0.0:0.1782	.	851	Q96C45	ULK4_HUMAN	I	851	ENSP00000301831:V851I	ENSP00000301831:V851I	V	-	1	0	ULK4	41731969	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.947000	0.03901	-2.451000	0.00543	-1.977000	0.00459	GTA	C|0.772;T|0.228	0.228	strong		0.428	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		T	41756965	C	T	41756965	3	4	22	1	0	0	0	0	1	0	0	0	16975	478	17	2	1332	2	ULK4	3	41756965	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	489994	41756965	156265465	2055	7163										
ULK4	54986	hgsc.bcm.edu	37	chr3	41831203	41831203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacaggacaacatggcagCgaataaggtcaacatgtact	9	11	1	0	rs17215589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:41831203C>T	ENST00000301831.4	-	21	2605	c.2143G>A	c.(2143-2145)Gct>Act	p.A715T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	715			A -> T (in dbSNP:rs17215589).		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACATGGCAGCGAATAAGGTC	0.393													T|||	408	0.0814696	0.0552	0.0879	5008	,	,		19692	0.002		0.166	False		,,,				2504	0.1074				p.A715T		Atlas-SNP	.											.	ULK4	150	.	0			c.G2143A						PASS	.	T	THR/ALA	254,3610		9,236,1687	112	109	110		2143	2.3	0	3	dbSNP_123	110	1240,7006		90,1060,2973	yes	missense	ULK4	NM_017886.2	58	99,1296,4660	TT,TC,CC		15.0376,6.5735,12.3369	benign	715/1276	41831203	1494,10616	1932	4123	6055	SO:0001583	missense	54986	exon21			TGGCAGCGAATAA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2143G>A	3.37:g.41831203C>T	ENSP00000301831:p.Ala715Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	95	48	0.505263	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	194	0.08882783882783883	29	0.05894308943089431	30	0.08287292817679558	2	0.0034965034965034965	133	0.17546174142480211	T	2.507	-0.313897	0.05422	0.065735	0.150376	ENSG00000168038	ENST00000301831	T	0.66099	-0.19	5.91	2.31	0.28768	Armadillo-like helical (1);Armadillo-type fold (2);	0.222920	0.38272	N	0.001755	T	0.00039	0.0001	N	0.02802	-0.49	0.09310	P	0.999999898638	B	0.06786	0.001	B	0.06405	0.002	T	0.12066	-1.0562	9	0.02654	T	1	.	4.5461	0.12081	0.2099:0.287:0.0:0.5031	rs17215589;rs17215589	715	Q96C45	ULK4_HUMAN	T	715	ENSP00000301831:A715T	ENSP00000301831:A715T	A	-	1	0	ULK4	41806207	0.719000	0.27986	0.028000	0.17463	0.890000	0.51754	-0.189000	0.09629	-0.047000	0.13423	-0.254000	0.11334	GCT	C|0.898;T|0.102	0.102	strong		0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		T	41831203	C	T	41831203	3	4	22	1	0	0	0	0	1	0	0	0	16975	768	27	1	1752	1	ULK4	3	41831203	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74238	41831203	156191227	2056	7164										
ULK4	54986	hgsc.bcm.edu	37	chr3	41877414	41877414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaaaggcactgttttaatTtgctgttcctgaagttttcc	8	7	0	1	rs3774372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:41877414T>C	ENST00000301831.4	-	18	2168	c.1706A>G	c.(1705-1707)aAa>aGa	p.K569R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	569			K -> R (in dbSNP:rs3774372).	AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). {ECO:0000305}.	cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGTTTTAATTTGCTGTTCCT	0.363													T|||	865	0.172724	0.1974	0.1369	5008	,	,		14471	0.1458		0.1849	False		,,,				2504	0.18				p.K569R		Atlas-SNP	.											.	ULK4	150	.	0			c.A1706G						PASS	.	T	ARG/LYS	766,2902		74,618,1142	135	134	135	http://www.ncbi.nlm.nih.gov/pubmed?term	1706	5.5	1	3	dbSNP_107	135	1373,6785		118,1137,2824	yes	missense	ULK4	NM_017886.2	26	192,1755,3966	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	16.8301,20.8833,18.0873	possibly-damaging	569/1276	41877414	2139,9687	1834	4079	5913	SO:0001583	missense	54986	exon18			TTTAATTTGCTGT	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1706A>G	3.37:g.41877414T>C	ENSP00000301831:p.Lys569Arg	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	221	120	0.542986	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	392	0.1794871794871795	105	0.21341463414634146	51	0.1408839779005525	88	0.15384615384615385	148	0.19525065963060687	T	13.98	2.400184	0.42613	0.208833	0.168301	ENSG00000168038	ENST00000301831	T	0.64438	-0.1	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (2);	0.057123	0.64402	U	0.000002	T	0.00039	0.0001	L	0.33485	1.01	0.09310	P	1.0	P	0.42456	0.78	B	0.39027	0.288	T	0.09100	-1.0690	9	0.14252	T	0.57	.	14.0999	0.65049	0.0:0.0:0.0:1.0	rs3774372;rs17216668;rs56443480;rs3774372	569	Q96C45	ULK4_HUMAN	R	569	ENSP00000301831:K569R	ENSP00000301831:K569R	K	-	2	0	ULK4	41852418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.095000	0.57728	2.204000	0.70986	0.528000	0.53228	AAA	T|0.818;C|0.182	0.182	strong		0.363	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41877414	T	C	41877414	3	2	22	1	0	0	0	0	1	0	0	0	16975	1841	64	2	2201	2	ULK4	3	41877414	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46211	41877414	156145016	2057	7165										
ULK4	54986	hgsc.bcm.edu	37	chr3	41952852	41952852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caattgaccctcaagagtacTcttaggccgaaactcagttg	8	11	3	2	rs35263917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:41952852T>C	ENST00000301831.4	-	11	1504	c.1042A>G	c.(1042-1044)Agt>Ggt	p.S348G	ULK4_ENST00000420927.1_Missense_Mutation_p.S348G	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	348			S -> G (in dbSNP:rs35263917). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAAGAGTACTCTTAGGCCGA	0.343													T|||	421	0.0840655	0.0635	0.0908	5008	,	,		20625	0.002		0.166	False		,,,				2504	0.1074				p.S348G		Atlas-SNP	.											ULK4_ENST00000301831,colon,carcinoma,+1,2	ULK4	150	2	0			c.A1042G						PASS	.	T	GLY/SER	283,3385		9,265,1560	94	88	90		1042	5.2	0.9	3	dbSNP_126	90	1227,6941		90,1047,2947	yes	missense	ULK4	NM_017886.2	56	99,1312,4507	CC,CT,TT		15.022,7.7154,12.7577	possibly-damaging	348/1276	41952852	1510,10326	1834	4084	5918	SO:0001583	missense	54986	exon11			GAGTACTCTTAGG	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1042A>G	3.37:g.41952852T>C	ENSP00000301831:p.Ser348Gly	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	203	100	0.492611	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	198	0.09065934065934066	31	0.06300813008130081	32	0.08839779005524862	2	0.0034965034965034965	133	0.17546174142480211	T	21.5	4.164150	0.78339	0.077154	0.15022	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.69040	0.42;-0.37	5.22	5.22	0.72569	.	0.707959	0.15193	N	0.275422	T	0.00300	0.0009	M	0.71581	2.175	0.09310	P	1.0	P	0.48911	0.917	B	0.43950	0.437	T	0.20907	-1.0261	9	0.62326	D	0.03	.	14.1258	0.65219	0.0:0.0:0.0:1.0	rs35263917;rs61740620	348	Q96C45	ULK4_HUMAN	G	348	ENSP00000301831:S348G;ENSP00000412187:S348G	ENSP00000301831:S348G	S	-	1	0	ULK4	41927856	1.000000	0.71417	0.918000	0.36340	0.766000	0.43426	5.411000	0.66386	1.979000	0.57680	0.529000	0.55759	AGT	T|0.887;C|0.113	0.113	strong		0.343	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41952852	T	C	41952852	3	2	22	1	0	0	0	0	1	0	0	0	16975	1551	54	3	2893	3	ULK4	3	41952852	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75438	41952852	156069578	2058	7166										
VIPR1	7433	hgsc.bcm.edu	37	chr3	42568929	42568929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaagaccggctacaccatTggctacggcctgtccctcgc	11	15	0	2	rs2229722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:42568929T>C	ENST00000325123.4	+	5	557	c.444T>C	c.(442-444)atT>atC	p.I148I	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I100I|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.I107I|VIPR1_ENST00000473575.1_3'UTR	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	148					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCTACACCATTGGCTACGGCC	0.607													C|||	1859	0.371206	0.4667	0.2839	5008	,	,		16535	0.5784		0.1511	False		,,,				2504	0.317				p.I148I		Atlas-SNP	.											.	VIPR1	45	.	0			c.T444C						PASS	.	C		1915,2491	627.0+/-394.8	389,1137,677	122	108	113		444	0.6	0.8	3	dbSNP_98	113	1389,7211	754.1+/-407.5	107,1175,3018	no	coding-synonymous	VIPR1	NM_004624.3		496,2312,3695	CC,CT,TT		16.1512,43.4635,25.4037		148/458	42568929	3304,9702	2203	4300	6503	SO:0001819	synonymous_variant	7433	exon5			CACCATTGGCTAC	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.444T>C	3.37:g.42568929T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_004624	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	CCDS2698.1																																																																																			T|0.722;C|0.278	0.278	strong		0.607	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		C	42568929	T	C	42568929	2	2	22	1	0	0	0	0	0	0	0	1	17166	1800	63	2		2	VIPR1	3	42568929	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	616077	42568929	155453501	2059	7167										
CYP8B1	1582	hgsc.bcm.edu	37	chr3	42916596	42916596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggctcacggagagcatcTtgtgaaagagacgctggagt	15	7	2	3	rs35764459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:42916596T>C	ENST00000316161.4	-	1	1037	c.713A>G	c.(712-714)aAg>aGg	p.K238R	CYP8B1_ENST00000437102.1_Missense_Mutation_p.K238R|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	238			K -> R (in dbSNP:rs35764459).		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGAGAGCATCTTGTGAAAGAG	0.572													T|||	108	0.0215655	0.0779	0.0072	5008	,	,		18049	0.0		0.0	False		,,,				2504	0.0				p.K238R		Atlas-SNP	.											.	CYP8B1	59	.	0			c.A713G						PASS	.	T	ARG/LYS	305,4099		8,289,1905	25	27	26		713	4.2	0	3	dbSNP_126	26	7,8589		0,7,4291	yes	missense	CYP8B1	NM_004391.2	26	8,296,6196	CC,CT,TT		0.0814,6.9255,2.4	benign	238/502	42916596	312,12688	2202	4298	6500	SO:0001583	missense	1582	exon1			AGCATCTTGTGAA	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.713A>G	3.37:g.42916596T>C	ENSP00000318867:p.Lys238Arg	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_004391	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	40	0.018315018315018316	38	0.07723577235772358	2	0.0055248618784530384	0	0.0	0	0.0	T	10.40	1.340138	0.24339	0.069255	8.14E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.69685	-0.42;-0.42	5.34	4.18	0.49190	.	0.469912	0.21438	N	0.074528	T	0.05410	0.0143	L	0.38838	1.175	0.09310	N	1	B;B	0.28258	0.205;0.205	B;B	0.29077	0.098;0.098	T	0.05566	-1.0877	10	0.42905	T	0.14	-8.3878	8.1412	0.31084	0.0:0.1655:0.0:0.8345	rs35764459;rs56678767	238;238	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	R	238	ENSP00000404499:K238R;ENSP00000318867:K238R	ENSP00000318867:K238R	K	-	2	0	CYP8B1	42891600	0.004000	0.15560	0.011000	0.14972	0.684000	0.39900	1.063000	0.30567	0.885000	0.36088	0.449000	0.29647	AAG	T|0.977;C|0.023	0.023	strong		0.572	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		C	42916596	T	C	42916596	3	2	22	1	0	0	0	0	1	0	0	0	4198	1609	56	3	796	3	CYP8B1	3	42916596	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	347667	42916596	155105834	2060	7168										
LARS2	23395	hgsc.bcm.edu	37	chr3	45459030	45459030	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgctgaaaatgccgcagtCgagaggaatctacatccaca	9	12	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:45459030C>T	ENST00000415258.1	+	4	561	c.420C>T	c.(418-420)gtC>gtT	p.V140V	LARS2_ENST00000265537.3_Silent_p.V140V|LARS2_ENST00000414984.1_Silent_p.V97V			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	140					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATGCCGCAGTCGAGAGGAATC	0.398																																					p.V140V		Atlas-SNP	.											.	LARS2	48	.	0			c.C420T						PASS	.						123	116	118					3																	45459030		2203	4300	6503	SO:0001819	synonymous_variant	23395	exon5			CGCAGTCGAGAGG	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.420C>T	3.37:g.45459030C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	100	29	0.29	NM_015340		Silent	SNP	ENST00000415258.1	37	CCDS2728.1																																																																																			.	.	none		0.398	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		T	45459030	C	T	45459030	2	4	22	1	0	0	0	0	0	0	0	1	8635	871	31	1		1	LARS2	3	45459030	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2542434	45459030	152563400	2061	7169										
CXCR6	10663	hgsc.bcm.edu	37	chr3	45987980	45987980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaacagacaccatggcaGagcatgattaccatgaagac	9	10	1	6	rs2234355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:45987980G>A	ENST00000458629.1	+	1	1470	c.7G>A	c.(7-9)Gag>Aag	p.E3K	CXCR6_ENST00000304552.4_Missense_Mutation_p.E3K|CXCR6_ENST00000438735.1_Missense_Mutation_p.E3K|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.E3K|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	3			E -> K (in dbSNP:rs2234355). {ECO:0000269|Ref.4}.		chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACCATGGCAGAGCATGATTA	0.483													G|||	702	0.140176	0.4909	0.0677	5008	,	,		22359	0.0		0.005	False		,,,				2504	0.001				p.E3K	Esophageal Squamous(63;1005 1117 15521 45762 47089)	Atlas-SNP	.											.	CXCR6	17	.	0			c.G7A						PASS	.	G	LYS/GLU,	1842,2564	534.4+/-373.9	402,1038,763	139	141	140		7,	3.8	0.2	3	dbSNP_98	140	23,8577	16.0+/-53.3	0,23,4277	yes	missense,intron	CXCR6,FYCO1	NM_006564.1,NM_024513.2	56,	402,1061,5040	AA,AG,GG		0.2674,41.8066,14.3395	benign,	3/343,	45987980	1865,11141	2203	4300	6503	SO:0001583	missense	10663	exon2			ATGGCAGAGCATG	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.7G>A	3.37:g.45987980G>A	ENSP00000395704:p.Glu3Lys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	137	67	0.489051	NM_006564	O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	CCDS2735.1	255	0.11675824175824176	230	0.46747967479674796	24	0.06629834254143646	0	0.0	1	0.0013192612137203166	G	17.55	3.418151	0.62622	0.418066	0.002674	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.57	3.8	0.43715	.	3.673050	0.00622	N	0.000453	T	0.00012	0.0000	N	0.19112	0.55	0.35184	P	0.227213	P	0.39665	0.682	B	0.30401	0.115	T	0.29882	-0.9997	9	0.46703	T	0.11	.	9.5395	0.39242	0.1649:0.0:0.8351:0.0	rs2234355;rs52808267;rs56447809;rs2234355	3	O00574	CXCR6_HUMAN	K	3	ENSP00000396218:E3K;ENSP00000304414:E3K;ENSP00000395704:E3K;ENSP00000396886:E3K	ENSP00000304414:E3K	E	+	1	0	CXCR6	45962984	0.000000	0.05858	0.206000	0.23566	0.198000	0.23893	0.391000	0.20784	0.729000	0.32403	0.655000	0.94253	GAG	G|0.857;A|0.143	0.143	strong		0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			A	45987980	G	A	45987980	3	1	22	1	0	0	0	0	1	0	0	0	4095	943	33	2	9	2	CXCR6	3	45987980	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	528950	45987980	152034450	2062	7170										
FYCO1	79443	hgsc.bcm.edu	37	chr3	46009491	46009491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctccttcaccaggcgctcCaggctggcccgggcatcctc	10	18	2	0	rs3796376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46009491C>T	ENST00000296137.2	-	8	1540	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	FYCO1_ENST00000535325.1_Silent_p.L445L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	445					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCAGGCGCTCCAGGCTGGCCC	0.627													C|||	808	0.161342	0.0333	0.1542	5008	,	,		17595	0.2927		0.2078	False		,,,				2504	0.1564				p.L445L		Atlas-SNP	.											.	FYCO1	115	.	0			c.G1335A						PASS	.	C		293,4113	161.1+/-193.3	6,281,1916	138	151	147		1335	2.3	0.9	3	dbSNP_107	147	1686,6914	309.2+/-309.3	161,1364,2775	no	coding-synonymous	FYCO1	NM_024513.2		167,1645,4691	TT,TC,CC		19.6047,6.65,15.2161		445/1479	46009491	1979,11027	2203	4300	6503	SO:0001819	synonymous_variant	79443	exon8			GCGCTCCAGGCTG	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1335G>A	3.37:g.46009491C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	155	79	0.509677	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1																																																																																			C|0.825;T|0.175	0.175	strong		0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		T	46009491	C	T	46009491	2	4	22	1	0	0	0	0	0	0	0	1	6125	581	21	2		2	FYCO1	3	46009491	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21511	46009491	152012939	2063	7171										
FYCO1	79443	hgsc.bcm.edu	37	chr3	46009620	46009620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgaagcttctcccctagCtcctgcatctcctgggccgc	9	17	2	1	rs34147726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46009620C>T	ENST00000296137.2	-	8	1411	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	FYCO1_ENST00000535325.1_Silent_p.E402E	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	402					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTCCCCTAGCTCCTGCATCT	0.572													C|||	489	0.0976438	0.354	0.0303	5008	,	,		19633	0.0		0.0	False		,,,				2504	0.0				p.E402E		Atlas-SNP	.											.	FYCO1	115	.	0			c.G1206A						PASS	.	C		1328,3078	445.1+/-347.6	201,926,1076	195	195	195		1206	2.8	0.9	3	dbSNP_126	195	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous	FYCO1	NM_024513.2		201,939,5363	TT,TC,CC		0.1512,30.1407,10.3106		402/1479	46009620	1341,11665	2203	4300	6503	SO:0001819	synonymous_variant	79443	exon8			CCCTAGCTCCTGC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1206G>A	3.37:g.46009620C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	139	59	0.42446	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1																																																																																			C|0.907;T|0.093	0.093	strong		0.572	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		T	46009620	C	T	46009620	2	4	22	1	0	0	0	0	0	0	0	1	6125	796	28	2		2	FYCO1	3	46009620	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129	46009620	152012810	2064	7172										
XCR1	2829	hgsc.bcm.edu	37	chr3	46063329	46063329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagaaacaccaggcagtaTaggacagtggtggcgagggt	17	6	0	1	rs2230322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46063329T>C	ENST00000309285.3	-	2	467	c.111A>G	c.(109-111)ctA>ctG	p.L37L	XCR1_ENST00000542109.1_Silent_p.L37L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	37					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCAGGCAGTATAGGACAGTGG	0.557													C|||	1166	0.232827	0.4425	0.0908	5008	,	,		17479	0.0466		0.1243	False		,,,				2504	0.3538				p.L37L		Atlas-SNP	.											.	XCR1	51	.	0			c.A111G						PASS	.	C	,	1744,2662	648.0+/-398.6	342,1060,801	113	107	109		111,111	-2.5	0.8	3	dbSNP_98	109	971,7629	774.7+/-407.7	46,879,3375	no	coding-synonymous,coding-synonymous	XCR1	NM_001024644.1,NM_005283.2	,	388,1939,4176	CC,CT,TT		11.2907,39.5824,20.875	,	37/334,37/334	46063329	2715,10291	2203	4300	6503	SO:0001819	synonymous_variant	2829	exon2			GCAGTATAGGACA		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.111A>G	3.37:g.46063329T>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	166	90	0.542169	NM_001024644		Silent	SNP	ENST00000309285.3	37	CCDS2736.1																																																																																			T|0.794;C|0.206	0.206	strong		0.557	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			C	46063329	T	C	46063329	2	2	22	1	0	0	0	0	0	0	0	1	17422	1393	49	2		2	XCR1	3	46063329	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53709	46063329	151959101	2065	7173										
CCR2	729230	hgsc.bcm.edu	37	chr3	46401243	46401243	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtccaggagtgagaccAggaaagaatgtgaaagtgac	16	5	0	4	rs3918386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46401243A>G	ENST00000400888.2	+	2	1056	c.1017A>G	c.(1015-1017)ccA>ccG	p.P339P	CCR2_ENST00000292301.4_Silent_p.P339P			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	339					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GAGTGAGACCAGGAAAGAATG	0.498													A|||	356	0.0710863	0.2595	0.0187	5008	,	,		19407	0.0		0.0	False		,,,				2504	0.0				p.P339P		Atlas-SNP	.											.	CCR2	103	.	0			c.A1017G						PASS	.	A		597,2539		60,477,1031	119	108	111		1017	-4.7	0	3	dbSNP_108	111	7,7157		0,7,3575	no	coding-synonymous	CCR2	NM_001123041.2		60,484,4606	GG,GA,AA		0.0977,19.037,5.8641		339/375	46401243	604,9696	1568	3582	5150	SO:0001819	synonymous_variant	729230	exon3			GAGACCAGGAAAG		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.1017A>G	3.37:g.46401243A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	74	32	0.432432	NM_001123041	A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	CCDS43078.1																																																																																			A|0.940;G|0.060	0.060	strong		0.498	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		G	46401243	A	G	46401243	2	3	22	1	0	0	0	0	0	0	0	1	2941	175	7	3		3	CCR2	3	46401243	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	337914	46401243	151621187	2066	7174										
CCRL2	9034	hgsc.bcm.edu	37	chr3	46449864	46449864	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttctgggctcatgctggGggcgatcccatgtgtaaaat	12	11	2	0	rs6808835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46449864G>T	ENST00000399036.3	+	2	646	c.294G>T	c.(292-294)ggG>ggT	p.G98G	CCRL2_ENST00000400880.3_Silent_p.G98G|CCRL2_ENST00000357392.4_Silent_p.G110G|CCRL2_ENST00000400882.2_Silent_p.G98G|RP11-24F11.2_ENST00000451485.1_RNA	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	98					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CTCATGCTGGGGGCGATCCCA	0.438													T|||	754	0.150559	0.3865	0.1354	5008	,	,		22724	0.0		0.1362	False		,,,				2504	0.0123				p.G110G		Atlas-SNP	.											.	CCRL2	23	.	0			c.G330T						PASS	.	T	,	1287,2727		204,879,924	86	85	86		330,294	-10.1	0	3	dbSNP_116	86	1248,7066		92,1064,3001	no	coding-synonymous,coding-synonymous	CCRL2	NM_001130910.1,NM_003965.4	,	296,1943,3925	TT,TG,GG		15.0108,32.0628,20.5629	,	110/357,98/345	46449864	2535,9793	2007	4157	6164	SO:0001819	synonymous_variant	9034	exon2			TGCTGGGGGCGAT	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.294G>T	3.37:g.46449864G>T		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	247	131	0.530364	NM_001130910	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	ENST00000399036.3	37	CCDS43079.1																																																																																			G|0.831;T|0.169	0.169	strong		0.438	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			T	46449864	G	T	46449864	2	4	22	1	0	0	0	0	0	0	0	1	2950	1219	43	4		4	CCRL2	3	46449864	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48621	46449864	151572566	2067	7175										
LTF	4057	hgsc.bcm.edu	37	chr3	46496843	46496843	+	Frame_Shift_Del	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaaggcacatttgttttCccctgtccccgcacacaggc					rs571988865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46496843delC	ENST00000231751.4	-	5	884	c.589delG	c.(589-591)gaafs	p.E197fs	LTF_ENST00000426532.2_Frame_Shift_Del_p.E153fs|LTF_ENST00000417439.1_Frame_Shift_Del_p.E197fs	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	197	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CATTTGTTTTCCCCTGTCCCC	0.562													CCCC|CCCC|CCC|deletion	12	0.00239617	0.0091	0.0	5008	,	,		22260	0.0		0.0	False		,,,				2504	0.0				p.E197fs		Pindel,Atlas-Indel	.											.	LTF	98	.	0			c.590delA						PASS	.		,	55,4211		13,29,2091	144	122	129		,	-9.6	0	3		130	74,8180		37,0,4090	no	frameshift,frameshift	LTF	NM_002343.3,NM_001199149.1	,	50,29,6181	A1A1,A1R,RR		0.8965,1.2893,1.0304	,	,	46496843	129,12391	2203	4300	6503	SO:0001589	frameshift_variant	4057	exon5			.		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.589delG	3.37:g.46496843delC	ENSP00000231751:p.Glu197fs	Somatic	128	.	.		WXS	Illumina HiSeq	Phase_I	143	43	0.301	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Frame_Shift_Del	DEL	ENST00000231751.4	37	CCDS33747.1																																																																																			.	.	none		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		-	46496843	C	-	46496843	7	5	22	1	0	1	0	1	0	0	0	0	9079	864	30	0	1595	0	LTF	3	46496843	Frame_Shift_Del	DEL	C	TCGA-G8-6324-01A-11D-2210-10	46979	46496843	151525587	2068	7176										
LTF	4057	hgsc.bcm.edu	37	chr3	46496854	46496854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgttttcccctgtccccGcacacaggcgacacaggttg	9	14	0	0	rs60938611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46496854G>A	ENST00000231751.4	-	5	873	c.578C>T	c.(577-579)gCg>gTg	p.A193V	LTF_ENST00000426532.2_Missense_Mutation_p.A149V|LTF_ENST00000417439.1_Missense_Mutation_p.A193V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	193	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CCCTGTCCCCGCACACAGGCG	0.552													G|||	324	0.0646965	0.2337	0.0216	5008	,	,		22455	0.0		0.0	False		,,,				2504	0.0				p.A193V		Atlas-SNP	.											.	LTF	98	.	0			c.C578T						PASS	.	G	VAL/ALA,VAL/ALA	726,3680	299.6+/-285.9	64,598,1541	140	115	124		446,578	-5.2	0	3	dbSNP_129	124	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	LTF	NM_001199149.1,NM_002343.3	64,64	64,603,5836	AA,AG,GG		0.0581,16.4775,5.6205	benign,benign	149/667,193/711	46496854	731,12275	2203	4300	6503	SO:0001583	missense	4057	exon5			GTCCCCGCACACA		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.578C>T	3.37:g.46496854G>A	ENSP00000231751:p.Ala193Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	141	68	0.482269	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	102|102	0.046703296703296704|0.046703296703296704	92|92	0.18699186991869918|0.18699186991869918	7|7	0.019337016574585635|0.019337016574585635	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	G|G	7.510|7.510	0.654550|0.654550	0.14580|0.14580	0.164775|0.164775	5.81E-4|5.81E-4	ENSG00000012223|ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496|ENST00000443743	T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35|.	4.79|4.79	-5.21|-5.21	0.02815|0.02815	.|.	1.046820|.	0.07391|.	N|.	0.889107|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.25245|0.25245	0.725|0.725	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.15473|.	0.013;0.011;0.013|.	B;B;B|.	0.08055|.	0.002;0.003;0.002|.	T|T	0.29761|0.29761	-1.0001|-1.0001	9|5	0.10377|0.87932	T|D	0.69|0	0.3304|0.3304	5.6254|5.6254	0.17480|0.17480	0.3945:0.0:0.398:0.2075|0.3945:0.0:0.398:0.2075	rs60938611;rs61740469|rs60938611;rs61740469	193;180;193|.	E7ER44;E7EQB2;P02788|.	.;.;TRFL_HUMAN|.	V|W	193;149;193;180|126	ENSP00000231751:A193V;ENSP00000405719:A149V;ENSP00000405546:A193V;ENSP00000397427:A180V|.	ENSP00000231751:A193V|ENSP00000393737:R126W	A|R	-|-	2|1	0|2	LTF|LTF	46471858|46471858	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.754000|-0.754000	0.04787|0.04787	-0.692000|-0.692000	0.05128|0.05128	-1.728000|-1.728000	0.00702|0.00702	GCG|CGG	G|0.949;A|0.051	0.051	strong		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		A	46496854	G	A	46496854	3	1	22	1	0	0	0	0	1	0	0	0	9079	1087	38	1	1606	1	LTF	3	46496854	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	46496854	151525576	2069	7177										
LTF	4057	hgsc.bcm.edu	37	chr3	46501268	46501268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcgggttgggatacggCgcaccactgaacactcctcc	12	15	0	1	rs1126477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46501268C>T	ENST00000231751.4	-	2	380	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	LTF_ENST00000426532.2_5'UTR|LTF_ENST00000417439.1_Missense_Mutation_p.A29T	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	29	Bactericidal and antifungal activity.|Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		A -> T (in dbSNP:rs1126477). {ECO:0000269|PubMed:11702692, ECO:0000269|PubMed:14573629, ECO:0000269|PubMed:22900286, ECO:0000269|PubMed:9873069, ECO:0000269|Ref.11, ECO:0000269|Ref.8, ECO:0000269|Ref.9}.		antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGGATACGGCGCACCACTGA	0.567													T|||	2352	0.469649	0.7693	0.4207	5008	,	,		17311	0.4167		0.2614	False		,,,				2504	0.3681				p.A29T		Atlas-SNP	.											LTF,NS,carcinoma,+2,1	LTF	98	1	0			c.G85A						scavenged	.	T	,THR/ALA	3066,1340	448.5+/-348.7	1065,936,202	106	87	93		,85	-3.6	0	3	dbSNP_86	93	2095,6505	717.1+/-406.1	255,1585,2460	yes	utr-5,missense	LTF	NM_001199149.1,NM_002343.3	,58	1320,2521,2662	TT,TC,CC		24.3605,30.4131,39.6817	,benign	,29/711	46501268	5161,7845	2203	4300	6503	SO:0001583	missense	4057	exon2			ATACGGCGCACCA		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.85G>A	3.37:g.46501268C>T	ENSP00000231751:p.Ala29Thr	Somatic	189	2	0.010582		WXS	Illumina HiSeq	Phase_I	205	107	0.521951	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	938	0.42948717948717946	363	0.7378048780487805	149	0.4116022099447514	229	0.40034965034965037	197	0.2598944591029024	T	0.357	-0.941430	0.02322	0.695869	0.243605	ENSG00000012223	ENST00000231751;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944	T;T;T;T	0.34072	2.51;2.51;2.51;1.38	4.32	-3.58	0.04597	.	0.666605	0.15394	N	0.264678	T	0.00012	0.0000	N	0.04880	-0.145	0.58432	P	1.999999999946489E-6	B;B;B	0.16396	0.004;0.017;0.004	B;B;B	0.14023	0.006;0.01;0.006	T	0.34601	-0.9822	9	0.02654	T	1	-2.9129	12.8044	0.57605	0.0:0.4849:0.0:0.5151	rs1126477;rs3181524;rs4683233;rs11556844;rs17413032;rs52792663;rs57054226;rs1126477	29;16;29	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	T	29;29;16;29;40	ENSP00000231751:A29T;ENSP00000405546:A29T;ENSP00000397427:A16T;ENSP00000395234:A40T	ENSP00000231751:A29T	A	-	1	0	LTF	46476272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.679000	0.01940	-1.497000	0.01826	-3.360000	0.00041	GCC	C|0.578;T|0.421	0.421	strong		0.567	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46501268	C	T	46501268	3	4	22	1	0	0	0	0	1	0	0	0	9079	768	27	1	2111	1	LTF	3	46501268	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4414	46501268	151521162	2070	7178										
LTF	4057	hgsc.bcm.edu	37	chr3	46501308	46501308	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacggccagccagacacagTcctgggagagaggggccaag	15	12	0	2	rs61740461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46501308T>C	ENST00000231751.4	-	2	340	c.45A>G	c.(43-45)ggA>ggG	p.G15G	LTF_ENST00000426532.2_5'UTR|LTF_ENST00000417439.1_Splice_Site_p.G15G	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	15					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CCAGACACAGTCCTGGGAGAG	0.562													T|||	351	0.0700879	0.2549	0.0202	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0				p.G15G		Atlas-SNP	.											.	LTF	98	.	0			c.A45G						PASS	.	T	,	855,3551	318.8+/-295.8	83,689,1431	58	50	52		,45	0.4	1	3	dbSNP_129	52	6,8594	3.7+/-12.6	0,6,4294	yes	utr-5,coding-synonymous-near-splice	LTF	NM_001199149.1,NM_002343.3	,	83,695,5725	CC,CT,TT		0.0698,19.4054,6.62	,	,15/711	46501308	861,12145	2203	4300	6503	SO:0001630	splice_region_variant	4057	exon2			ACACAGTCCTGGG		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.44-1A>G	3.37:g.46501308T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	120	65	0.541667	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	CCDS33747.1																																																																																			T|0.931;C|0.069	0.069	strong		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	Silent	C	46501308	T	C	46501308	5	2	22	1	0	0	0	0	0	0	1	0	9079	1681	58	2	2151	2	LTF	3	46501308	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40	46501308	151521122	2071	7179										
PRSS45	29122	hgsc.bcm.edu	37	chr3	46783959	46783959	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatttggtgtatttggtgaTgcgggtgtacacacctggat	13	7	0	1	rs58830807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46783959T>C	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.I190V			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TATTTGGTGATGCGGGTGTAC	0.547													C|||	1317	0.262979	0.528	0.1844	5008	,	,		20274	0.121		0.1441	False		,,,				2504	0.229				p.I190V	Pancreas(41;915 1239 11561 17469)	Atlas-SNP	.											.	PRSS45	12	.	0			c.A568G						PASS	.	C	VAL/ILE	1731,2457		367,997,730	214	267	249		568	-0.1	0	3	dbSNP_129	249	1221,7235		80,1061,3087	yes	missense	PRSS45	NM_199183.2	29	447,2058,3817	CC,CT,TT		14.4395,41.3324,23.347	benign	190/229	46783959	2952,9692	2094	4228	6322	SO:0001627	intron_variant	377047	exon4			TGGTGATGCGGGT	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+6155A>G	3.37:g.46783959T>C		Somatic	446	0	0		WXS	Illumina HiSeq	Phase_I	440	214	0.486364	NM_199183		Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	468	0.21428571428571427	231	0.4695121951219512	58	0.16022099447513813	65	0.11363636363636363	114	0.1503957783641161	C	0.008	-1.920869	0.00498	0.413324	0.144395	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.87650	-2.28	5.65	-0.106	0.13596	.	0.432871	0.20158	N	0.098016	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.14587	-1.0467	8	0.02654	T	1	.	9.715	0.40270	0.0:0.4503:0.0:0.5497	rs58830807;rs62246245	190	Q7RTY3-2	.	V	222;190	ENSP00000401932:I190V	ENSP00000330940:I222V	I	-	1	0	PRSS45	46758963	0.000000	0.05858	0.010000	0.14722	0.254000	0.26022	-0.998000	0.03701	-0.453000	0.07076	-0.726000	0.03593	ATC	T|0.801;C|0.199	0.199	strong		0.547	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			C	46783959	T	C	46783959	1	2	22	0	1	0	0	0	0	0	0	0	12629	1464	51	2		2	PRSS45	3	46783959	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	282651	46783959	151238471	2072	7180										
PRSS45	29122	hgsc.bcm.edu	37	chr3	46784467	46784467	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacaagggggacaactGgggggaagaaggacttcttg	17	7	1	1	rs58943210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46784467G>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.P130L			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGGGACAACTGGGGGGAAGAA	0.527													G|||	1317	0.262979	0.528	0.1844	5008	,	,		20178	0.121		0.1441	False		,,,				2504	0.229				p.P130L	Pancreas(41;915 1239 11561 17469)	Atlas-SNP	.											.	PRSS45	12	.	0			c.C389T						PASS	.	G	LEU/PRO	1684,2364		355,974,695	67	73	71		389	-4.4	0	3	dbSNP_129	71	1204,7184		79,1046,3069	yes	missense	PRSS45	NM_199183.2	98	434,2020,3764	AA,AG,GG		14.3538,41.6008,23.2229	benign	130/229	46784467	2888,9548	2024	4194	6218	SO:0001627	intron_variant	377047	exon3			ACAACTGGGGGGA	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5647C>T	3.37:g.46784467G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	116	62	0.534483	NM_199183		Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	468	0.21428571428571427	231	0.4695121951219512	58	0.16022099447513813	65	0.11363636363636363	114	0.1503957783641161	G	8.503	0.864696	0.17250	0.416008	0.143538	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.89415	-2.51	4.82	-4.4	0.03600	.	2.033210	0.02114	N	0.055041	T	0.00012	0.0000	.	.	.	0.58432	P	9.99999999995449E-6	B	0.06786	0.001	B	0.09377	0.004	T	0.15809	-1.0424	8	0.30854	T	0.27	.	6.0784	0.19928	0.0:0.2292:0.2548:0.5161	rs58943210	130	Q7RTY3-2	.	L	162;130	ENSP00000401932:P130L	ENSP00000330940:P162L	P	-	2	0	PRSS45	46759471	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.748000	0.01826	-1.107000	0.03004	-0.147000	0.13772	CCA	G|0.801;A|0.199	0.199	strong		0.527	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			A	46784467	G	A	46784467	1	1	22	0	1	0	0	0	0	0	0	0	12629	1348	47	2		2	PRSS45	3	46784467	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	508	46784467	151237963	2073	7181										
PTH1R	5745	hgsc.bcm.edu	37	chr3	46945000	46945000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccagggaccccagccctgGagaccctcgagaccacacca	10	18	0	2	rs77048718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:46945000G>A	ENST00000313049.5	+	14	1839	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	PTH1R_ENST00000430002.2_Missense_Mutation_p.E546K|PTH1R_ENST00000449590.1_Missense_Mutation_p.E546K|PTH1R_ENST00000418619.1_Missense_Mutation_p.E546K			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	546					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCCAGCCCTGGAGACCCTCGA	0.692													G|||	43	0.00858626	0.0015	0.013	5008	,	,		14428	0.0		0.0278	False		,,,				2504	0.0041				p.E546K		Atlas-SNP	.											.	PTH1R	49	.	0			c.G1636A						PASS	.	G	LYS/GLU,LYS/GLU	18,4388	25.3+/-52.1	0,18,2185	70	69	69		1636,1636	1.8	0.1	3	dbSNP_131	69	219,8381	91.4+/-153.5	6,207,4087	yes	missense,missense	PTH1R	NM_000316.2,NM_001184744.1	56,56	6,225,6272	AA,AG,GG		2.5465,0.4085,1.8222	benign,benign	546/594,546/594	46945000	237,12769	2203	4300	6503	SO:0001583	missense	5745	exon15			GCCCTGGAGACCC		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1636G>A	3.37:g.46945000G>A	ENSP00000321999:p.Glu546Lys	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	162	80	0.493827	NM_001184744	Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	24	0.01098901098901099	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	20	0.026385224274406333	G	11.78	1.741593	0.30865	0.004085	0.025465	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T	0.77750	0.67;0.67;0.67;0.67;-1.12	1.79	1.79	0.24919	.	.	.	.	.	T	0.33789	0.0875	L	0.34521	1.04	0.25845	N	0.984009	B	0.22480	0.07	B	0.16722	0.016	T	0.32613	-0.9900	9	0.07030	T	0.85	.	3.7227	0.08463	0.2428:0.0:0.7572:0.0	.	546	Q03431	PTH1R_HUMAN	K	546;546;546;546;851;135	ENSP00000402723:E546K;ENSP00000411424:E546K;ENSP00000413774:E546K;ENSP00000321999:E546K;ENSP00000396176:E135K	ENSP00000321999:E546K	E	+	1	0	PTH1R	46920004	0.325000	0.24660	0.056000	0.19401	0.951000	0.60555	1.840000	0.39230	1.319000	0.45190	0.563000	0.77884	GAG	A|0.019;C|0.000;G|0.981	0.019	strong		0.692	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		A	46945000	G	A	46945000	3	1	22	1	0	0	0	0	1	0	0	0	12758	1175	41	2	1690	2	PTH1R	3	46945000	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160533	46945000	151077430	2074	7182										
KIF9	64147	hgsc.bcm.edu	37	chr3	47286320	47286320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcttggacttggctttcTtcccaggtttggtagagaaa	10	8	3	1	rs115610071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:47286320T>C	ENST00000265529.3	-	16	2155	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	KIF9_ENST00000452770.2_Missense_Mutation_p.K492R|KIF9_ENST00000444589.2_Missense_Mutation_p.K492R|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.K399R|KIF9_ENST00000335044.2_Missense_Mutation_p.K492R			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	492					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTTGGCTTTCTTCCCAGGTTT	0.567													T|||	19	0.00379393	0.0	0.0086	5008	,	,		19521	0.001		0.008	False		,,,				2504	0.0041				p.K492R	Colon(44;962 1147 15977 24541)	Atlas-SNP	.											.	KIF9	59	.	0			c.A1475G						PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS	7,4399	12.9+/-30.5	0,7,2196	177	149	158		1475,1475,1475	4.7	1	3	dbSNP_132	158	103,8497	56.4+/-117.6	2,99,4199	yes	missense,missense,missense	KIF9	NM_001134878.1,NM_022342.4,NM_182902.3	26,26,26	2,106,6395	CC,CT,TT		1.1977,0.1589,0.8458	benign,benign,benign	492/791,492/726,492/791	47286320	110,12896	2203	4300	6503	SO:0001583	missense	64147	exon15			GCTTTCTTCCCAG	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1475A>G	3.37:g.47286320T>C	ENSP00000265529:p.Lys492Arg	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	175	84	0.48	NM_182902	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	T	8.708	0.911321	0.17833	0.001589	0.011977	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.65	4.65	0.58169	.	0.263417	0.32372	N	0.006192	T	0.19208	0.0461	N	0.16478	0.41	0.24963	N	0.991717	P;B	0.38020	0.615;0.373	B;B	0.34779	0.189;0.051	T	0.07849	-1.0751	10	0.23302	T	0.38	.	7.0449	0.25040	0.0:0.0998:0.0:0.9002	.	492;492	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	R	492;492;492;492;399	ENSP00000333942:K492R;ENSP00000265529:K492R;ENSP00000414987:K492R;ENSP00000391100:K492R;ENSP00000292334:K399R	ENSP00000265529:K492R	K	-	2	0	KIF9	47261324	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	2.914000	0.48797	2.095000	0.63458	0.528000	0.53228	AAG	T|0.992;C|0.008	0.008	strong		0.567	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			C	47286320	T	C	47286320	3	2	22	1	0	0	0	0	1	0	0	0	8310	1609	56	3	925	3	KIF9	3	47286320	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	341320	47286320	150736110	2075	7183										
PTPN23	25930	hgsc.bcm.edu	37	chr3	47454398	47454398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaatcccatcttcctcccCgccccccctttcctccccac	1	27	1	0	rs140165828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:47454398C>T	ENST00000265562.4	+	25	4711	c.4634C>T	c.(4633-4635)cCg>cTg	p.P1545L	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1419L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1545	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTTCCTCCCCGCCCCCCCTT	0.701													C|||	9	0.00179712	0.0068	0.0	5008	,	,		11435	0.0		0.0	False		,,,				2504	0.0				p.P1545L		Atlas-SNP	.											PTPN23,NS,carcinoma,-1,1	PTPN23	85	1	0			c.C4634T						PASS	.	C	LEU/PRO	19,4375		0,19,2178	21	24	23		4634	3.9	0.8	3	dbSNP_134	23	0,8586		0,0,4293	yes	missense	PTPN23	NM_015466.2	98	0,19,6471	TT,TC,CC		0.0,0.4324,0.1464	probably-damaging	1545/1637	47454398	19,12961	2197	4293	6490	SO:0001583	missense	25930	exon25			CCTCCCCGCCCCC	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4634C>T	3.37:g.47454398C>T	ENSP00000265562:p.Pro1545Leu	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	247	116	0.469636	NM_015466	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	13.75	2.328844	0.41197	0.004324	0.0	ENSG00000076201	ENST00000265562	T	0.02916	4.11	3.9	3.9	0.45041	.	0.171581	0.36932	N	0.002332	T	0.02929	0.0087	L	0.27053	0.805	0.50171	D	0.999851	D	0.64830	0.994	P	0.51453	0.67	T	0.50825	-0.8782	10	0.72032	D	0.01	-10.0851	11.2398	0.48962	0.0:0.8134:0.1866:0.0	.	1545	Q9H3S7	PTN23_HUMAN	L	1545	ENSP00000265562:P1545L	ENSP00000265562:P1545L	P	+	2	0	PTPN23	47429402	0.499000	0.26083	0.835000	0.33067	0.668000	0.39293	2.241000	0.43097	2.146000	0.66826	0.563000	0.77884	CCG	C|0.998;T|0.002	0.002	strong		0.701	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		T	47454398	C	T	47454398	3	4	22	1	0	0	0	0	1	0	0	0	12788	652	23	1	4732	1	PTPN23	3	47454398	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168078	47454398	150568032	2076	7184										
CSPG5	10675	hgsc.bcm.edu	37	chr3	47619025	47619025	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccttggggagttcagaaGctgggctcagcttgtcgccg	14	11	3	1	rs35863063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:47619025G>C	ENST00000383738.2	-	2	2589	c.491C>G	c.(490-492)gCt>gGt	p.A164G	CSPG5_ENST00000456150.1_Missense_Mutation_p.A26G|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.A164G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	164					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGTTCAGAAGCTGGGCTCAG	0.652													G|||	97	0.019369	0.0696	0.0072	5008	,	,		14217	0.0		0.0	False		,,,				2504	0.0				p.A164G		Atlas-SNP	.											.	CSPG5	46	.	0			c.C491G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA	266,4134		10,246,1944	27	34	32		77,491,491,77,491	-4.3	0	3	dbSNP_126	32	1,8597		0,1,4298	yes	missense,missense,missense,missense,missense	CSPG5	NM_001206942.1,NM_001206943.1,NM_001206944.1,NM_001206945.1,NM_006574.3	60,60,60,60,60	10,247,6242	CC,CG,GG		0.0116,6.0455,2.0542	benign,benign,benign,benign,benign	26/402,164/567,164/478,26/429,164/540	47619025	267,12731	2200	4299	6499	SO:0001583	missense	10675	exon2			TCAGAAGCTGGGC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.491C>G	3.37:g.47619025G>C	ENSP00000373244:p.Ala164Gly	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_006574	Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	CCDS56253.1	38	0.0173992673992674	34	0.06910569105691057	4	0.011049723756906077	0	0.0	0	0.0	G	0.369	-0.934853	0.02340	0.060455	1.16E-4	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.41400	1.0;1.0;1.0	3.92	-4.28	0.03732	Chondroitin sulphate attachment (1);	0.534137	0.14716	N	0.302660	T	0.00815	0.0027	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.17289	-1.0374	10	0.09590	T	0.72	-0.5678	0.8637	0.01198	0.2327:0.2926:0.2766:0.1981	rs35863063	164;164	O95196;O95196-2	CSPG5_HUMAN;.	G	26;164;164	ENSP00000392096:A26G;ENSP00000373244:A164G;ENSP00000264723:A164G	ENSP00000264723:A164G	A	-	2	0	CSPG5	47594029	0.002000	0.14202	0.001000	0.08648	0.453000	0.32348	-1.165000	0.03132	-0.599000	0.05798	0.579000	0.79373	GCT	G|0.981;C|0.019	0.019	strong		0.652	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		C	47619025	G	C	47619025	3	2	22	1	0	0	0	0	1	0	0	0	3961	971	34	4	1144	4	CSPG5	3	47619025	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	164627	47619025	150403405	2077	7185										
MAP4	4134	hgsc.bcm.edu	37	chr3	47956424	47956424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttttccccgttcctgtgaCggtttctaaaggtaataaca	7	10	1	1	rs1137524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:47956424C>T	ENST00000360240.6	-	8	2400	c.1882G>A	c.(1882-1884)Gtc>Atc	p.V628I	MAP4_ENST00000426837.2_Missense_Mutation_p.V645I|MAP4_ENST00000395734.3_Missense_Mutation_p.V628I|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	628			V -> I (in dbSNP:rs1137524). {ECO:0000269|PubMed:1718985, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231}.		cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GTTCCTGTGACGGTTTCTAAA	0.443													C|||	1947	0.388778	0.5628	0.3963	5008	,	,		18715	0.2847		0.3002	False		,,,				2504	0.3466				p.V628I		Atlas-SNP	.											.	MAP4	176	.	0			c.G1882A						PASS	.	C	ILE/VAL,ILE/VAL	2353,2053	607.5+/-391.0	627,1099,477	127	132	130		1882,1882	0.4	0	3	dbSNP_86	130	2696,5904	431.8+/-356.9	429,1838,2033	yes	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	1056,2937,2510	TT,TC,CC		31.3488,46.5956,38.8205	probably-damaging,probably-damaging	628/1136,628/1153	47956424	5049,7957	2203	4300	6503	SO:0001583	missense	4134	exon8			CTGTGACGGTTTC		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1882G>A	3.37:g.47956424C>T	ENSP00000353375:p.Val628Ile	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	138	70	0.507246	NM_001134364	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	736	0.336996336996337	242	0.491869918699187	129	0.356353591160221	144	0.2517482517482518	221	0.29155672823219	C	6.223	0.409250	0.11812	0.534044	0.313488	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.10192	3.1;2.9;3.1	4.42	0.416	0.16416	.	.	.	.	.	T	0.00012	0.0000	M	0.72118	2.19	0.80722	P	0.0	B;B;P	0.35208	0.137;0.216;0.49	B;B;B	0.22152	0.017;0.024;0.038	T	0.40496	-0.9560	8	0.34782	T	0.22	-1.0291	1.6979	0.02866	0.1672:0.4786:0.1625:0.1917	rs1137524;rs2230170;rs3201296;rs6442089;rs11548143;rs17434449;rs52792140;rs59940954;rs6442089	605;628;628	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	I	628;645;628	ENSP00000379083:V628I;ENSP00000407602:V645I;ENSP00000353375:V628I	ENSP00000353375:V628I	V	-	1	0	MAP4	47931428	0.019000	0.18553	0.014000	0.15608	0.015000	0.08874	-0.083000	0.11286	-0.054000	0.13266	-1.067000	0.02272	GTC	T|0.303;G|0.116;C|0.511;N|0.000;A|0.069	0.303	strong		0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		T	47956424	C	T	47956424	3	4	22	1	0	0	0	0	1	0	0	0	9258	536	19	1	2983	1	MAP4	3	47956424	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	337399	47956424	150066006	2078	7186										
MAP4	4134	hgsc.bcm.edu	37	chr3	47958037	47958037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagaggatatttctgtgGatgatataatgtcattagcc	10	6	2	2	rs1060407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:47958037G>T	ENST00000360240.6	-	7	1798	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	MAP4_ENST00000395734.3_Missense_Mutation_p.S427Y|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.S444Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	427	17 X 14 AA tandem repeats.		S -> Y (in dbSNP:rs1060407). {ECO:0000269|PubMed:1718985}.		cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TATTTCTGTGGATGATATAAT	0.483													G|||	1261	0.251797	0.1165	0.3458	5008	,	,		21315	0.2629		0.2992	False		,,,				2504	0.3078				p.S427Y		Atlas-SNP	.											.	MAP4	176	.	0			c.C1280A						PASS	.	G	TYR/SER,TYR/SER	591,3815	257.0+/-261.6	36,519,1648	124	111	116		1280,1280	4.1	0.1	3	dbSNP_86	116	2660,5940	426.6+/-355.3	420,1820,2060	yes	missense,missense	MAP4	NM_001134364.1,NM_002375.4	144,144	456,2339,3708	TT,TG,GG		30.9302,13.4135,24.9962	benign,benign	427/1136,427/1153	47958037	3251,9755	2203	4300	6503	SO:0001583	missense	4134	exon7			TCTGTGGATGATA		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1280C>A	3.37:g.47958037G>T	ENSP00000353375:p.Ser427Tyr	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	235	115	0.489362	NM_001134364	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	506	0.2316849816849817	46	0.09349593495934959	108	0.2983425414364641	131	0.229020979020979	221	0.29155672823219	G	13.11	2.140525	0.37825	0.134135	0.309302	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.08807	3.12;3.05;3.13	4.09	4.09	0.47781	.	.	.	.	.	T	0.00012	0.0000	L	0.58101	1.795	0.23277	P	0.99799361	P;B;B	0.45827	0.867;0.27;0.319	B;B;B	0.42062	0.374;0.151;0.073	T	0.48502	-0.9030	8	0.87932	D	0	-1.8424	14.6207	0.68582	0.0:0.0:1.0:0.0	rs1060407;rs3201295;rs3821448;rs17382401;rs61068109;rs1060407	404;427;427	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	Y	427;444;427	ENSP00000379083:S427Y;ENSP00000407602:S444Y;ENSP00000353375:S427Y	ENSP00000353375:S427Y	S	-	2	0	MAP4	47933041	0.200000	0.23398	0.112000	0.21494	0.006000	0.05464	1.868000	0.39509	2.560000	0.86352	0.561000	0.74099	TCC	G|0.754;T|0.246	0.246	strong		0.483	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		T	47958037	G	T	47958037	3	4	22	1	0	0	0	0	1	0	0	0	9258	1174	41	4	3589	4	MAP4	3	47958037	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1613	47958037	150064393	2079	7187										
FBXW12	285231	hgsc.bcm.edu	37	chr3	48420987	48420987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatggtattgtacttctacActgctctcctgacaagaaat	6	9	2	2	rs77256337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:48420987A>G	ENST00000296438.5	+	7	899	c.713A>G	c.(712-714)cAc>cGc	p.H238R	FBXW12_ENST00000415155.1_Missense_Mutation_p.H168R|FBXW12_ENST00000436231.1_Missense_Mutation_p.H81R|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000445170.1_Missense_Mutation_p.H219R	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	238										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTACTTCTACACTGCTCTCCT	0.428													A|||	33	0.00658946	0.0234	0.0029	5008	,	,		24553	0.0		0.0	False		,,,				2504	0.0				p.H238R		Atlas-SNP	.											.	FBXW12	44	.	0			c.A713G						PASS	.	A	ARG/HIS,ARG/HIS,ARG/HIS	77,4329	67.6+/-105.2	1,75,2127	301	269	280		503,656,713	-7.2	0	3	dbSNP_131	280	0,8600		0,0,4300	yes	missense,missense,missense	FBXW12	NM_001159927.1,NM_001159929.1,NM_207102.2	29,29,29	1,75,6427	GG,GA,AA		0.0,1.7476,0.592	benign,benign,benign	168/395,219/446,238/465	48420987	77,12929	2203	4300	6503	SO:0001583	missense	285231	exon7			TTCTACACTGCTC	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.713A>G	3.37:g.48420987A>G	ENSP00000296438:p.His238Arg	Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	220	119	0.540909	NM_207102	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	A	1.575	-0.533025	0.04112	0.017476	0.0	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.62232	1.62;0.04;1.62;3.52	4.03	-7.21	0.01490	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	1.379180	0.04600	N	0.398402	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.10870	-1.0611	10	0.16420	T	0.52	-12.9603	1.3588	0.02187	0.1804:0.1139:0.2788:0.4269	.	137;219;168;238	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	R	137;238;81;219;168	ENSP00000296438:H238R;ENSP00000413866:H81R;ENSP00000406139:H219R;ENSP00000414683:H168R	ENSP00000296438:H238R	H	+	2	0	FBXW12	48395991	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	-0.149000	0.10204	-1.503000	0.01812	-1.253000	0.01494	CAC	A|0.994;G|0.006	0.006	strong		0.428	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		G	48420987	A	G	48420987	3	3	22	1	0	0	0	0	1	0	0	0	5765	159	6	2	772	2	FBXW12	3	48420987	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	462950	48420987	149601443	2080	7188										
PLXNB1	5364	hgsc.bcm.edu	37	chr3	48454018	48454018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgcgctggctctccagCgtgtggatgaactgcagcca	14	11	1	1	rs34555887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:48454018C>T	ENST00000358536.4	-	26	5135	c.4866G>A	c.(4864-4866)acG>acA	p.T1622T	PLXNB1_ENST00000296440.6_Silent_p.T1622T|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Silent_p.T233T|PLXNB1_ENST00000358459.4_Silent_p.T1439T|PLXNB1_ENST00000456774.1_Silent_p.T1439T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1622					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTCTCCAGCGTGTGGATGA	0.592													C|||	68	0.0135783	0.0484	0.0058	5008	,	,		19223	0.0		0.0	False		,,,				2504	0.0				p.T1622T		Atlas-SNP	.											.	PLXNB1	150	.	0			c.G4866A						PASS	.	C	,	194,4212	121.3+/-158.8	6,182,2015	43	44	43		4866,4866	-8.7	0.7	3	dbSNP_126	43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	6,183,6314	TT,TC,CC		0.0116,4.4031,1.4993	,	1622/2136,1622/2136	48454018	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	5364	exon26			CTCCAGCGTGTGG	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4866G>A	3.37:g.48454018C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	142	74	0.521127	NM_001130082	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																			C|0.985;T|0.015	0.015	strong		0.592	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		T	48454018	C	T	48454018	2	4	22	1	0	0	0	0	0	0	0	1	12123	755	27	1		1	PLXNB1	3	48454018	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33031	48454018	149568412	2081	7189										
TMEM89	440955	hgsc.bcm.edu	37	chr3	48659009	48659009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagatgcggcttgctccagGgcccagccagtagccaggac	14	13	0	1	rs9834639	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:48659009G>T	ENST00000330862.3	-	1	279	c.181C>A	c.(181-183)Cct>Act	p.P61T		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	61			P -> T (in dbSNP:rs9834639).			integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTGCTCCAGGGCCCAGCCAG	0.652													G|||	549	0.109625	0.2685	0.0937	5008	,	,		14325	0.0228		0.0825	False		,,,				2504	0.0235				p.P61T		Atlas-SNP	.											.	TMEM89	10	.	0			c.C181A						PASS	.	G	THR/PRO	1030,3376	355.6+/-313.1	110,810,1283	54	47	49		181	2.8	0.9	3	dbSNP_119	49	653,7947	157.7+/-211.4	32,589,3679	yes	missense	TMEM89	NM_001008269.1	38	142,1399,4962	TT,TG,GG		7.593,23.3772,12.9402	possibly-damaging	61/160	48659009	1683,11323	2203	4300	6503	SO:0001583	missense	440955	exon1			CTCCAGGGCCCAG	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.181C>A	3.37:g.48659009G>T	ENSP00000329557:p.Pro61Thr	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	178	80	0.449438	NM_001008269		Missense_Mutation	SNP	ENST00000330862.3	37	CCDS33751.1	236	0.10805860805860806	123	0.25	31	0.0856353591160221	19	0.033216783216783216	63	0.08311345646437995	G	12.61	1.990025	0.35131	0.233772	0.07593	ENSG00000183396	ENST00000330862	T	0.41400	1.0	4.7	2.84	0.33178	.	0.841083	0.09976	N	0.731570	T	0.00012	0.0000	N	0.22421	0.69	0.43517	P	0.004214999999999969	B	0.21452	0.056	B	0.20384	0.029	T	0.17899	-1.0354	9	0.59425	D	0.04	-4.1779	7.6057	0.28101	0.0:0.1817:0.6301:0.1883	rs9834639;rs58298641;rs9834639	61	A2RUT3	TMM89_HUMAN	T	61	ENSP00000329557:P61T	ENSP00000329557:P61T	P	-	1	0	TMEM89	48634013	0.989000	0.36119	0.922000	0.36590	0.007000	0.05969	1.725000	0.38074	0.547000	0.28938	0.462000	0.41574	CCT	G|0.878;T|0.122	0.122	strong		0.652	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		T	48659009	G	T	48659009	3	4	22	1	0	0	0	0	1	0	0	0	16210	1232	43	4	305	4	TMEM89	3	48659009	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	204991	48659009	149363421	2082	7190										
SLC26A6	65010	hgsc.bcm.edu	37	chr3	48664473	48664473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgcatcttccatcttatCtcctgagctcacctgctggg	8	13	4	1	rs59643945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:48664473C>T	ENST00000395550.2	-	18	1956	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	SLC26A6_ENST00000337000.8_Missense_Mutation_p.D529N|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D616N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D636N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D601N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D618N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	637	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCCATCTTATCTCCTGAGCTC	0.597													C|||	329	0.0656949	0.2231	0.0346	5008	,	,		18821	0.0		0.008	False		,,,				2504	0.002				p.D637N	NSCLC(13;369 479 28271 30152 44026)	Atlas-SNP	.											.	SLC26A6	45	.	0			c.G1909A						PASS	.	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	695,3405		68,559,1423	92	98	96		1846,1909,1906,1852	-0.5	0	3	dbSNP_129	96	49,8343		0,49,4147	yes	missense,missense,missense,missense	SLC26A6	NM_001040454.1,NM_022911.2,NM_134263.2,NM_134426.2	23,23,23,23	68,608,5570	TT,TC,CC		0.5839,16.9512,5.9558	benign,benign,benign,benign	616/739,637/760,636/759,618/741	48664473	744,11748	2050	4196	6246	SO:0001583	missense	65010	exon18			TCTTATCTCCTGA	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1909G>A	3.37:g.48664473C>T	ENSP00000378920:p.Asp637Asn	Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	175	96	0.548571	NM_022911	B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	CCDS43087.1	116	0.05311355311355311	101	0.20528455284552846	11	0.03038674033149171	0	0.0	4	0.005277044854881266	C	9.598	1.128019	0.20959	0.169512	0.005839	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.92545	-2.95;-2.93;-3.05;-2.96;-2.93;-3.06	3.63	-0.494	0.12034	Sulphate transporter/antisigma-factor antagonist STAS (3);	.	.	.	.	T	0.00241	0.0007	N	0.10972	0.075	0.80722	P	0.0	B;B;B;B;B;B;B	0.21905	0.004;0.0;0.005;0.0;0.001;0.0;0.062	B;B;B;B;B;B;B	0.28638	0.013;0.001;0.009;0.002;0.006;0.003;0.092	T	0.24548	-1.0157	8	0.51188	T	0.08	.	3.7251	0.08472	0.0:0.4123:0.1909:0.3969	rs59643945	601;631;529;618;636;637;4023	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	636;637;618;529;631;616;601	ENSP00000404684:D636N;ENSP00000378920:D637N;ENSP00000373239:D618N;ENSP00000337648:D529N;ENSP00000351597:D616N;ENSP00000401066:D601N	ENSP00000337648:D529N	D	-	1	0	SLC26A6	48639477	0.001000	0.12720	0.000000	0.03702	0.151000	0.21798	0.206000	0.17375	-0.112000	0.11979	-0.339000	0.08088	GAT	C|0.962;T|0.038	0.038	strong		0.597	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		T	48664473	C	T	48664473	3	4	22	1	0	0	0	0	1	0	0	0	14521	913	32	2	386	2	SLC26A6	3	48664473	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5464	48664473	149357957	2083	7191										
CELSR3	1951	hgsc.bcm.edu	37	chr3	48699134	48699134	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcgacgaaagcgtgcccGgttcgccgaggttactttcc	14	13	0	0	rs76423828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:48699134G>T	ENST00000164024.4	-	1	1214	c.934C>A	c.(934-936)Cgg>Agg	p.R312R	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.R312R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	312					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGCGTGCCCGGTTCGCCGAG	0.701													G|||	29	0.00579073	0.0212	0.0014	5008	,	,		14032	0.0		0.0	False		,,,				2504	0.0				p.R312R		Atlas-SNP	.											.	CELSR3	237	.	0			c.C934A						PASS	.	G		51,4315		0,51,2132	39	43	42		934	1.4	0	3	dbSNP_131	42	1,8499		0,1,4249	no	coding-synonymous	CELSR3	NM_001407.2		0,52,6381	TT,TG,GG		0.0118,1.1681,0.4042		312/3313	48699134	52,12814	2183	4250	6433	SO:0001819	synonymous_variant	1951	exon1			GTGCCCGGTTCGC	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.934C>A	3.37:g.48699134G>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_001407	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																			G|0.995;T|0.005	0.005	strong		0.701	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48699134	G	T	48699134	2	4	22	1	0	0	0	0	0	0	0	1	3223	1115	39	4		4	CELSR3	3	48699134	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34661	48699134	149323296	2084	7192										
USP19	10869	hgsc.bcm.edu	37	chr3	49149020	49149020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagaagaaattccactggTgctgggcacaggaccccggt	12	12	1	2	rs13321689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49149020T>C	ENST00000398888.2	-	20	3139	c.2821A>G	c.(2821-2823)Acc>Gcc	p.T941A	USP19_ENST00000417901.1_Missense_Mutation_p.T1044A|USP19_ENST00000434032.2_Missense_Mutation_p.T1042A|USP19_ENST00000453664.1_Missense_Mutation_p.T1032A|USP19_ENST00000398896.1_Missense_Mutation_p.T749A|USP19_ENST00000398898.2_Missense_Mutation_p.T981A|USP19_ENST00000398892.3_Missense_Mutation_p.T981A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	941	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATTCCACTGGTGCTGGGCACA	0.637													T|||	96	0.0191693	0.0688	0.0072	5008	,	,		17360	0.0		0.0	False		,,,				2504	0.0				p.T1044A		Atlas-SNP	.											.	USP19	158	.	0			c.A3130G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR,ALA/THR	283,3485		9,265,1610	27	29	29		3124,3130,3094,2821	4.9	1	3	dbSNP_121	29	6,8216		0,6,4105	yes	missense,missense,missense,missense	USP19	NM_001199160.1,NM_001199161.1,NM_001199162.1,NM_006677.2	58,58,58,58	9,271,5715	CC,CT,TT		0.073,7.5106,2.4103	benign,benign,benign,benign	1042/1420,1044/1385,1032/1373,941/1319	49149020	289,11701	1884	4111	5995	SO:0001583	missense	10869	exon21			CACTGGTGCTGGG	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2821A>G	3.37:g.49149020T>C	ENSP00000381863:p.Thr941Ala	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	64	39	0.609375	NM_001199161	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	42	0.019230769230769232	37	0.07520325203252033	5	0.013812154696132596	0	0.0	0	0.0	T	2.392	-0.339698	0.05243	0.075106	7.3E-4	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.18657	2.2;2.21;2.3;2.3;2.2;2.3;2.29	6.04	4.93	0.64822	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.787862	0.12324	N	0.478992	T	0.00384	0.0012	N	0.02213	-0.635	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.003;0.001;0.0;0.001	B;B;B;B;B	0.14578	0.011;0.011;0.005;0.005;0.005	T	0.38001	-0.9681	10	0.14252	T	0.57	-11.953	5.3341	0.15947	0.0:0.0978:0.2401:0.6621	rs13321689	1042;1032;941;981;749	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	A	749;981;1044;1032;981;941;1042	ENSP00000381870:T749A;ENSP00000381872:T981A;ENSP00000395260:T1044A;ENSP00000400090:T1032A;ENSP00000381867:T981A;ENSP00000381863:T941A;ENSP00000401197:T1042A	ENSP00000381863:T941A	T	-	1	0	USP19	49124024	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.989000	0.29629	2.330000	0.79161	0.529000	0.55759	ACC	T|0.972;C|0.028	0.028	strong		0.637	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		C	49149020	T	C	49149020	3	2	22	1	0	0	0	0	1	0	0	0	17047	1696	59	2	1163	2	USP19	3	49149020	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	449886	49149020	148873410	2085	7193										
BSN	8927	hgsc.bcm.edu	37	chr3	49690496	49690496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccaaccgagacaccctcCggcagctccaccactcccag	6	21	1	1	rs11709525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49690496C>T	ENST00000296452.4	+	5	3621	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1169					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)		AGACACCCTCCGGCAGCTCCA	0.602													C|||	1039	0.207468	0.2632	0.1657	5008	,	,		19657	0.0565		0.3241	False		,,,				2504	0.1973				p.S1169S		Atlas-SNP	.											BSN,NS,carcinoma,0,1	BSN	272	1	0			c.C3507T						PASS	.	C		1179,3227	381.6+/-324.1	150,879,1174	33	35	35		3507	-9.8	0	3	dbSNP_120	35	2556,6044	384.5+/-341.1	405,1746,2149	no	coding-synonymous	BSN	NM_003458.3		555,2625,3323	TT,TC,CC		29.7209,26.759,28.7175		1169/3927	49690496	3735,9271	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon5			ACCCTCCGGCAGC	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.3507C>T	3.37:g.49690496C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			C|0.731;G|0.000;T|0.269	0.269	strong		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49690496	C	T	49690496	2	4	22	1	0	0	0	0	0	0	0	1	1530	639	23	1		1	BSN	3	49690496	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	541476	49690496	148331934	2086	7194										
BSN	8927	hgsc.bcm.edu	37	chr3	49698695	49698695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtccccgctgatagccgTgccccactgcagaagccacg	10	18	0	2	rs149210839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49698695T>C	ENST00000296452.4	+	6	9531	c.9417T>C	c.(9415-9417)cgT>cgC	p.R3139R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3139					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)		CTGATAGCCGTGCCCCACTGC	0.602													T|||	14	0.00279553	0.0098	0.0014	5008	,	,		16801	0.0		0.0	False		,,,				2504	0.0				p.R3139R		Atlas-SNP	.											.	BSN	272	.	0			c.T9417C						PASS	.	T		26,4380	32.6+/-62.9	0,26,2177	67	53	58		9417	-2.3	0	3	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	BSN	NM_003458.3		0,26,6477	CC,CT,TT		0.0,0.5901,0.1999		3139/3927	49698695	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon6			TAGCCGTGCCCCA	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.9417T>C	3.37:g.49698695T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	154	70	0.454545	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			T|0.998;C|0.002	0.002	strong		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		C	49698695	T	C	49698695	2	2	22	1	0	0	0	0	0	0	0	1	1530	1683	59	2		2	BSN	3	49698695	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8199	49698695	148323735	2087	7195										
BSN	8927	hgsc.bcm.edu	37	chr3	49701983	49701983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcaagctggcaaactgacGgaaggtatgcactgcctgca	13	10	0	1	rs9858542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49701983G>A	ENST00000296452.4	+	9	11850	c.11736G>A	c.(11734-11736)acG>acA	p.T3912T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3912					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)		GCAAACTGACGGAAGGTATGC	0.637													G|||	978	0.195288	0.2171	0.17	5008	,	,		17930	0.0516		0.3241	False		,,,				2504	0.1994				p.T3912T		Atlas-SNP	.											BSN,NS,carcinoma,+1,1	BSN	272	1	0			c.G11736A						PASS	.	G		1044,3362	379.7+/-323.4	120,804,1279	48	54	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11736	-10.1	0.6	3	dbSNP_119	52	2577,6023	416.5+/-352.1	402,1773,2125	yes	coding-synonymous	BSN	NM_003458.3		522,2577,3404	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	29.9651,23.695,27.841		3912/3927	49701983	3621,9385	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon9			ACTGACGGAAGGT	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.11736G>A	3.37:g.49701983G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	41	14	0.341463	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			G|0.749;A|0.251	0.251	strong		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49701983	G	A	49701983	2	1	22	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49701983	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3288	49701983	148320447	2088	7196										
APEH	327	hgsc.bcm.edu	37	chr3	49714225	49714225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggtcagccctgtattaTgtggacctcatcggggggaa	13	10	2	0	rs1131095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49714225T>C	ENST00000296456.5	+	9	1252	c.852T>C	c.(850-852)taT>taC	p.Y284Y	APEH_ENST00000438011.1_Silent_p.Y284Y	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	284					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.Y284Y(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTGTATTATGTGGACCTCA	0.587													T|||	1015	0.202676	0.2413	0.17	5008	,	,		22856	0.0565		0.3241	False		,,,				2504	0.1994				p.Y284Y		Atlas-SNP	.											APEH,NS,carcinoma,0,1	APEH	45	1	1	Substitution - coding silent(1)	stomach(1)	c.T852C						PASS	.	T		1101,3305	397.0+/-330.2	135,831,1237	171	152	158		852	-8.4	0.7	3	dbSNP_86	158	2578,6022	419.6+/-353.1	402,1774,2124	no	coding-synonymous	APEH	NM_001640.3		537,2605,3361	CC,CT,TT		29.9767,24.9887,28.2869		284/733	49714225	3679,9327	2203	4300	6503	SO:0001819	synonymous_variant	327	exon9			GTATTATGTGGAC	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.852T>C	3.37:g.49714225T>C		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	301	166	0.551495	NM_001640	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			T|0.737;C|0.263	0.263	strong		0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49714225	T	C	49714225	2	2	22	1	0	0	0	0	0	0	0	1	768	1471	51	2		2	APEH	3	49714225	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12242	49714225	148308205	2089	7197										
MST1	327	hgsc.bcm.edu	37	chr3	49721532	49721532	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgaagacagctggccagcGggaccttgcgcatactcggt	14	12	0	2	rs3197999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49721532G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R703C|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R689C(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGCCAGCGGGACCTTGCG	0.567													G|||	961	0.191893	0.2179	0.1686	5008	,	,		20686	0.0565		0.3131	False		,,,				2504	0.1881				p.R703C		Atlas-SNP	.											MST1,NS,carcinoma,0,1	MST1	84	1	1	Substitution - Missense(1)	stomach(1)	c.C2107T						PASS	.	G	CYS/ARG	1036,3370	380.4+/-323.7	120,796,1287	64	61	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2107	-2.8	0.1	3	dbSNP_105	62	2525,6075	411.6+/-350.5	385,1755,2160	yes	missense	MST1	NM_020998.3	180	505,2551,3447	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	29.3605,23.5134,27.3797	possibly-damaging	703/726	49721532	3561,9445	2203	4300	6503	SO:0001628	intergenic_variant	4485	exon18			GCCAGCGGGACCT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721532G>A		Somatic	466	0	0		WXS	Illumina HiSeq	Phase_I	474	204	0.43038	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	472|472	0.21611721611721613|0.21611721611721613	119|119	0.241869918699187|0.241869918699187	81|81	0.22375690607734808|0.22375690607734808	37|37	0.06468531468531469|0.06468531468531469	235|235	0.3100263852242744|0.3100263852242744	G|G	17.19|17.19	3.327308|3.327308	0.60743|0.60743	0.235134|0.235134	0.293605|0.293605	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.89196	.|-2.48	5.59|5.59	-2.82|-2.82	0.05787|0.05787	.|.	.|0.559462	.|0.14941	.|N	.|0.289511	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.74389|0.74389	2.26|2.26	0.46298|0.46298	P|P	0.0010210000000000496|0.0010210000000000496	.|P	.|0.40681	.|0.727	.|B	.|0.40702	.|0.338	T|T	0.21280|0.21280	-1.0250|-1.0250	4|9	.|0.66056	.|D	.|0.02	.|.	12.6939|12.6939	0.56992|0.56992	0.07:0.7015:0.147:0.0815|0.07:0.7015:0.147:0.0815	rs3197999;rs52793577;rs60772290;rs3197999|rs3197999;rs52793577;rs60772290;rs3197999	.|703	.|G3XAK1	.|.	L|C	172|703	.|ENSP00000414287:R703C	.|ENSP00000414287:R703C	P|R	-|-	2|1	0|0	MST1|MST1	49696536|49696536	0.511000|0.511000	0.26179|0.26179	0.123000|0.123000	0.21794|0.21794	0.860000|0.860000	0.49131|0.49131	1.075000|1.075000	0.30716|0.30716	-0.545000|-0.545000	0.06224|0.06224	0.655000|0.655000	0.94253|0.94253	CCG|CGC	G|0.749;A|0.251	0.251	strong		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49721532	G	A	49721532	1	1	22	0	1	0	0	0	0	0	0	0	9890	1116	39	1		1	MST1	3	49721532	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7307	49721532	148300898	2090	7198										
MST1	327	hgsc.bcm.edu	37	chr3	49721622	49721622	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgggcccccgtagtcacCctggcaggtaggagaactga	14	11	1	2	rs200268600		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Splice_Site_p.G673S|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																					p.G673S		Atlas-SNP	.											MST1,NS,carcinoma,0,2	MST1	84	2	0			c.G2017A						scavenged	.						19	19	19					3																	49721622		2202	4294	6496	SO:0001628	intergenic_variant	4485	exon18			AGTCACCCTGGCA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T		Somatic	501	22	0.0439122		WXS	Illumina HiSeq	Phase_I	556	34	0.0611511	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT	C|0.999;T|0.001	0.001	weak		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			T	49721622	C	T	49721622	1	4	22	0	1	0	0	0	0	0	0	0	9890	637	22	2		2	MST1	3	49721622	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90	49721622	148300808	2091	7199										
MST1	327	hgsc.bcm.edu	37	chr3	49721798	49721798	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgcacatctcactctcCcgcacacgtcctcggtgctt	7	17	3	0	rs13085791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49721798C>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.R655R|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTCACTCTCCCGCACACGTC	0.597													C|||	1046	0.208866	0.2632	0.1729	5008	,	,		21198	0.0565		0.3241	False		,,,				2504	0.1994				p.R655R		Atlas-SNP	.											.	MST1	84	.	0			c.G1965T						PASS	.	C		1184,3222	408.9+/-334.8	153,878,1172	55	57	56		1965	-6	0	3	dbSNP_121	56	2576,6024	406.4+/-348.8	399,1778,2123	no	coding-synonymous	MST1	NM_020998.3		552,2656,3295	AA,AC,CC		29.9535,26.8724,28.9097		655/726	49721798	3760,9246	2203	4300	6503	SO:0001628	intergenic_variant	4485	exon17			ACTCTCCCGCACA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721798C>A		Somatic	372	1	0.00268817		WXS	Illumina HiSeq	Phase_I	367	189	0.514986	NM_020998	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1	515	0.2358058608058608	148	0.3008130081300813	83	0.2292817679558011	37	0.06468531468531469	247	0.3258575197889182	C	5.900	0.350100	0.11182	0.268724	0.299535	ENSG00000173531	ENST00000448220	.	.	.	5.59	-5.99	0.02213	.	.	.	.	.	.	.	.	.	.	.	0.23023	P	0.99841852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6906	0.02851	0.1818:0.3582:0.266:0.194	rs13085791;rs13085791	.	.	.	X	125	.	.	G	-	1	0	MST1	49696802	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	-1.124000	0.03260	-1.376000	0.02126	0.655000	0.94253	GGA	C|0.725;A|0.275	0.275	strong		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49721798	C	A	49721798	1	1	22	0	1	0	0	0	0	0	0	0	9890	610	22	4		4	MST1	3	49721798	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176	49721798	148300632	2092	7200										
RNF123	63891	hgsc.bcm.edu	37	chr3	49743010	49743010	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttgctgctggggcggccCcccgaggagcctgagcagcc	17	15	0	1	rs76989089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49743010C>G	ENST00000327697.6	+	24	2346	c.2202C>G	c.(2200-2202)ccC>ccG	p.P734P	RNF123_ENST00000432042.1_Silent_p.P588P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	734					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGGGCGGCCCCCCGAGGAGC	0.647													C|||	93	0.0185703	0.0015	0.0274	5008	,	,		16085	0.0		0.0477	False		,,,				2504	0.0245				p.P734P		Atlas-SNP	.											.	RNF123	100	.	0			c.C2202G						PASS	.	C		28,4378	32.6+/-62.9	0,28,2175	36	39	38		2202	0.3	1	3	dbSNP_133	38	319,8281	109.0+/-169.6	10,299,3991	no	coding-synonymous	RNF123	NM_022064.2		10,327,6166	GG,GC,CC		3.7093,0.6355,2.668		734/1315	49743010	347,12659	2203	4300	6503	SO:0001819	synonymous_variant	63891	exon24			GCGGCCCCCCGAG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2202C>G	3.37:g.49743010C>G		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	209	103	0.492823	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																			C|0.974;G|0.026	0.026	strong		0.647	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		G	49743010	C	G	49743010	2	3	22	1	0	0	0	0	0	0	0	1	13433	610	22	4		4	RNF123	3	49743010	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21212	49743010	148279420	2093	7201										
GMPPB	29925	hgsc.bcm.edu	37	chr3	49760073	49760073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcaggatgtacatgcctgCgttgatcttattggacacaa	10	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49760073C>T	ENST00000480687.1	-	6	633	c.517G>A	c.(517-519)Gca>Aca	p.A173T	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.A173T|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Missense_Mutation_p.A173T			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	173					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACATGCCTGCGTTGATCTTA	0.592																																					p.A173T		Atlas-SNP	.											GMPPB,NS,carcinoma,0,1	GMPPB	14	1	0			c.G517A						scavenged	.						121	108	112					3																	49760073		2203	4300	6503	SO:0001583	missense	29925	exon5			TGCCTGCGTTGAT	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.517G>A	3.37:g.49760073C>T	ENSP00000418565:p.Ala173Thr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	167	4	0.0239521	NM_021971	A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012612	0.75161	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.94092	-3.35;-3.35;-3.35	4.58	4.58	0.56647	Nucleotidyl transferase (1);	0.054620	0.64402	D	0.000001	D	0.90655	0.7069	L	0.55834	1.745	0.80722	D	1	P;P	0.50156	0.932;0.902	B;B	0.43783	0.393;0.431	D	0.88432	0.3036	10	0.25106	T	0.35	-10.6477	11.7331	0.51748	0.1762:0.8238:0.0:0.0	.	173;173	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	T	173	ENSP00000418565:A173T;ENSP00000309092:A173T;ENSP00000311130:A173T	ENSP00000309092:A173T	A	-	1	0	GMPPB	49735077	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.680000	0.68168	2.373000	0.80994	0.462000	0.41574	GCA	.	.	none		0.592	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		T	49760073	C	T	49760073	3	4	22	1	0	0	0	0	1	0	0	0	6495	768	27	1	662	1	GMPPB	3	49760073	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17063	49760073	148262357	2094	7202										
C3orf54	7318	hgsc.bcm.edu	37	chr3	49840843	49840843	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatgcacagcgctcggctTgacagcttccttagccagct	10	14	0	1	rs115355405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49840843T>C	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Silent_p.L8L|MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCTCGGCTTGACAGCTTCC	0.701													T|||	43	0.00858626	0.0008	0.0187	5008	,	,		9656	0.0		0.0249	False		,,,				2504	0.0041				p.L8L		Atlas-SNP	.											.	.	.	.	0			c.T24C						PASS	.	T		12,4368		0,12,2178	33	32	32		24	-0.2	1	3	dbSNP_132	32	194,8378		6,182,4098	no	coding-synonymous	C3orf54	NM_203370.1		6,194,6276	CC,CT,TT		2.2632,0.274,1.5905		8/288	49840843	206,12746	2190	4286	6476	SO:0001628	intergenic_variant	389119	exon1			TCGGCTTGACAGC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49840843T>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	150	87	0.58	NM_203370	Q9BRB2	Silent	SNP	ENST00000333486.3	37	CCDS2805.1																																																																																			T|0.984;C|0.016	0.016	strong		0.701	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		C	49840843	T	C	49840843	1	2	22	0	1	0	0	0	0	0	0	0	2233	1799	63	2		2	C3orf54	3	49840843	IGR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80770	49840843	148181587	2095	7203										
UBA7	7318	hgsc.bcm.edu	37	chr3	49845526	49845526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctaccacaaagtccacaTggaagttgctgtcatcatcc	7	14	2	0	rs2230149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:49845526T>C	ENST00000333486.3	-	20	2608	c.2450A>G	c.(2449-2451)cAt>cGt	p.H817R	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	817			H -> R (in dbSNP:rs2230149).		cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGTCCACATGGAAGTTGCT	0.567													T|||	138	0.0275559	0.0983	0.0072	5008	,	,		22642	0.0		0.003	False		,,,				2504	0.0				p.H817R		Atlas-SNP	.											.	UBA7	64	.	0			c.A2450G						PASS	.	T	ARG/HIS	325,4081	171.6+/-201.8	20,285,1898	94	87	89		2450	5.3	0.9	3	dbSNP_98	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UBA7	NM_003335.2	29	20,286,6197	CC,CT,TT		0.0116,7.3763,2.5065	probably-damaging	817/1013	49845526	326,12680	2203	4300	6503	SO:0001583	missense	7318	exon20			TCCACATGGAAGT	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2450A>G	3.37:g.49845526T>C	ENSP00000333266:p.His817Arg	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_003335	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	46	0.021062271062271064	41	0.08333333333333333	3	0.008287292817679558	0	0.0	2	0.002638522427440633	T	22.6	4.310618	0.81358	0.073763	1.16E-4	ENSG00000182179	ENST00000333486	T	0.47177	0.85	5.34	5.34	0.76211	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.177580	0.53938	D	0.000047	T	0.19446	0.0467	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70263	-0.4920	10	0.87932	D	0	-17.9904	15.6299	0.76899	0.0:0.0:0.0:1.0	rs2230149;rs2234387;rs2230149	817	P41226	UBA7_HUMAN	R	817	ENSP00000333266:H817R	ENSP00000333266:H817R	H	-	2	0	UBA7	49820530	1.000000	0.71417	0.902000	0.35471	0.771000	0.43674	5.762000	0.68809	2.169000	0.68431	0.459000	0.35465	CAT	T|0.973;C|0.027	0.027	strong		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		C	49845526	T	C	49845526	3	2	22	1	0	0	0	0	1	0	0	0	16830	1464	51	2	608	2	UBA7	3	49845526	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4683	49845526	148176904	2096	7204										
SLC38A3	10991	hgsc.bcm.edu	37	chr3	50257389	50257389	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatgcccacggagaaggaGcctgcaagatccacccccaa	9	15	1	2	rs35742391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:50257389G>A	ENST00000420502.1	+	0	1536									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CGGAGAAGGAGCCTGCAAGAT	0.587													G|||	581	0.116014	0.3495	0.0576	5008	,	,		19489	0.0		0.0298	False		,,,				2504	0.0501				p.E461E		Atlas-SNP	.											.	SLC38A3	22	.	0			c.G1383A						PASS	.	G		1088,2842		178,732,1055	93	80	84		1383	3.8	1	3	dbSNP_126	84	276,8014		9,258,3878	no	coding-synonymous	SLC38A3	NM_006841.4		187,990,4933	AA,AG,GG		3.3293,27.6845,11.162		461/505	50257389	1364,10856	1965	4145	6110			10991	exon15			GAAGGAGCCTGCA	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50257389G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	190	101	0.531579	NM_006841		Silent	SNP	ENST00000420502.1	37																																																																																				G|0.914;A|0.086	0.086	strong		0.587	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		A	50257389	G	A	50257389	1	1	22	0	1	0	0	0	0	0	0	0	14605	962	34	2		2	SLC38A3	3	50257389	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	411863	50257389	147765041	2097	7205										
IFRD2	7866	hgsc.bcm.edu	37	chr3	50326883	50326883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagccacccctacctgtcAaggatgtggctgatttgggt	12	11	1	1	rs78165652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:50326883A>G	ENST00000429673.2	-	7	965	c.966T>C	c.(964-966)ctT>ctC	p.L322L	IFRD2_ENST00000336089.4_Silent_p.L424L|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_Silent_p.L258L|IFRD2_ENST00000436390.1_Silent_p.L258L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	322						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTACCTGTCAAGGATGTGGC	0.632													A|||	30	0.00599042	0.0008	0.0101	5008	,	,		17527	0.0		0.0179	False		,,,				2504	0.0041				p.L322L		Atlas-SNP	.											.	IFRD2	34	.	0			c.T966C						PASS	.	A		9,3949		0,9,1970	13	16	15		966	-4.9	0.9	3	dbSNP_132	15	149,8185		2,145,4020	no	coding-synonymous	IFRD2	NM_006764.4		2,154,5990	GG,GA,AA		1.7879,0.2274,1.2854		322/507	50326883	158,12134	1979	4167	6146	SO:0001819	synonymous_variant	7866	exon7			CCTGTCAAGGATG	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.966T>C	3.37:g.50326883A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	159	70	0.440252	NM_006764	Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	CCDS46831.1																																																																																			A|0.992;G|0.008	0.008	strong		0.632	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		G	50326883	A	G	50326883	2	3	22	1	0	0	0	0	0	0	0	1	7554	117	5	2		2	IFRD2	3	50326883	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69494	50326883	147695547	2098	7206										
CACNA2D2	9254	hgsc.bcm.edu	37	chr3	50418547	50418547	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagttgagctcattgagGatgacagtggctggggggaa	17	6	1	3	rs56287038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:50418547G>T	ENST00000479441.1	-	7	662	c.663C>A	c.(661-663)atC>atA	p.I221I	CACNA2D2_ENST00000435965.1_Silent_p.I221I|CACNA2D2_ENST00000360963.3_Silent_p.I152I|CACNA2D2_ENST00000266039.3_Silent_p.I221I|CACNA2D2_ENST00000424201.2_Silent_p.I221I|CACNA2D2_ENST00000395083.1_Silent_p.I221I|CACNA2D2_ENST00000423994.2_Silent_p.I221I|CACNA2D2_ENST00000429770.1_Silent_p.I221I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	221					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCTCATTGAGGATGACAGTGG	0.612													G|||	587	0.117212	0.3517	0.0562	5008	,	,		13903	0.0		0.0318	False		,,,				2504	0.0521				p.I221I		Atlas-SNP	.											.	CACNA2D2	82	.	0			c.C663A						PASS	.	G	,,	1314,3092	441.6+/-346.4	227,860,1116	123	128	126		663,663,663	4.6	1	3	dbSNP_129	126	287,8313	106.6+/-167.4	8,271,4021	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	235,1131,5137	TT,TG,GG		3.3372,29.823,12.3097	,,	221/1146,221/1151,221/1144	50418547	1601,11405	2203	4300	6503	SO:0001819	synonymous_variant	9254	exon7			ATTGAGGATGACA	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.663C>A	3.37:g.50418547G>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	83	26	0.313253	NM_001174051	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	CCDS54588.1																																																																																			G|0.887;T|0.113	0.113	strong		0.612	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50418547	G	T	50418547	2	4	22	1	0	0	0	0	0	0	0	1	2549	1164	41	4		4	CACNA2D2	3	50418547	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91664	50418547	147603883	2099	7207										
IQCF1	132141	hgsc.bcm.edu	37	chr3	51930850	51930850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtttgggaggtcatacttTttctgatttctcattggcat	10	6	3	1	rs57859638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:51930850T>C	ENST00000310914.5	-	3	231	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	57										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTCATACTTTTTCTGATTTC	0.488													T|||	494	0.0986422	0.0772	0.1441	5008	,	,		15992	0.0169		0.1899	False		,,,				2504	0.0859				p.K57E		Atlas-SNP	.											IQCF1,tonsil,carcinoma,0,1	IQCF1	26	1	0			c.A169G						PASS	.	T	GLU/LYS	440,3966	211.8+/-231.9	25,390,1788	168	155	160		169	-5.5	0	3	dbSNP_129	160	1647,6953	304.8+/-307.1	158,1331,2811	yes	missense	IQCF1	NM_152397.2	56	183,1721,4599	CC,CT,TT		19.1512,9.9864,16.0464	benign	57/206	51930850	2087,10919	2203	4300	6503	SO:0001583	missense	132141	exon3			ATACTTTTTCTGA	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.169A>G	3.37:g.51930850T>C	ENSP00000307958:p.Lys57Glu	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	157	62	0.394904	NM_152397	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	258	0.11813186813186813	54	0.10975609756097561	50	0.13812154696132597	6	0.01048951048951049	148	0.19525065963060687	T	7.233	0.599696	0.13939	0.099864	0.191512	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.30182	1.54	3.15	-5.5	0.02576	.	2.522450	0.01453	N	0.015570	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.07644	T	0.81	-12.336	6.6923	0.23179	0.0:0.1824:0.1462:0.6715	rs57859638	57	Q8N6M8	IQCF1_HUMAN	E	57	ENSP00000307958:K57E	ENSP00000307958:K57E	K	-	1	0	IQCF1	51905890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.751000	0.01821	-1.368000	0.02149	0.448000	0.29417	AAA	T|0.851;C|0.149	0.149	strong		0.488	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		C	51930850	T	C	51930850	3	2	22	1	0	0	0	0	1	0	0	0	7807	1850	64	2	456	2	IQCF1	3	51930850	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1512303	51930850	146091580	2100	7208										
GLYCTK	132158	hgsc.bcm.edu	37	chr3	52325039	52325039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcggaggacaacctcccGgaccgcgatgcgctgcgggc	17	14	0	0	rs35976326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52325039G>A	ENST00000436784.2	+	3	501	c.441G>A	c.(439-441)ccG>ccA	p.P147P	GLYCTK_ENST00000305690.8_Silent_p.P147P|GLYCTK_ENST00000461183.1_Silent_p.P63P|GLYCTK_ENST00000471180.1_Silent_p.P20P|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Silent_p.P147P|GLYCTK_ENST00000477382.1_Silent_p.P147P|GLYCTK_ENST00000354773.4_Silent_p.P147P			Q8IVS8	GLCTK_HUMAN	glycerate kinase	147					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACAACCTCCCGGACCGCGATG	0.622													G|||	756	0.150958	0.4032	0.0994	5008	,	,		21728	0.0		0.1014	False		,,,				2504	0.0532				p.P147P		Atlas-SNP	.											.	GLYCTK	30	.	0			c.G441A						PASS	.	G	,	1289,3117	436.6+/-344.7	190,909,1104	100	80	86		441,441	-10.8	0.2	3	dbSNP_126	86	1017,7583	216.3+/-255.4	58,901,3341	no	coding-synonymous,coding-synonymous	GLYCTK	NM_001144951.1,NM_145262.3	,	248,1810,4445	AA,AG,GG		11.8256,29.2556,17.7303	,	147/235,147/524	52325039	2306,10700	2203	4300	6503	SO:0001819	synonymous_variant	132158	exon3			CCTCCCGGACCGC		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.441G>A	3.37:g.52325039G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_001144951	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	CCDS2852.1																																																																																			G|0.845;A|0.155	0.155	strong		0.622	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		A	52325039	G	A	52325039	2	1	22	1	0	0	0	0	0	0	0	1	6482	1103	39	1		1	GLYCTK	3	52325039	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394189	52325039	145697391	2101	7209										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52365223	52365223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcggcgtcctggactacGacgaggagaagaagctatac	14	9	0	2	rs55931436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52365223G>A	ENST00000420323.2	+	7	1192	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	311	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTGGACTACGACGAGGAGAA	0.567													G|||	89	0.0177716	0.0643	0.0058	5008	,	,		20717	0.0		0.0	False		,,,				2504	0.0				p.D311N		Atlas-SNP	.											.	DNAH1	534	.	0			c.G931A						PASS	.	G	ASN/ASP	167,3917		5,157,1880	56	59	58		931	3.6	0	3	dbSNP_129	58	1,8383		0,1,4191	yes	missense	DNAH1	NM_015512.4	23	5,158,6071	AA,AG,GG		0.0119,4.0891,1.3474	benign	311/4266	52365223	168,12300	2042	4192	6234	SO:0001583	missense	25981	exon7			GACTACGACGAGG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.931G>A	3.37:g.52365223G>A	ENSP00000401514:p.Asp311Asn	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	194	91	0.469072	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	G	10.94	1.491737	0.26774	0.040891	1.19E-4	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.38	3.58	0.41010	.	0.000000	0.53938	D	0.000051	T	0.01627	0.0052	L	0.46885	1.475	0.26172	N	0.979848	B;P	0.39326	0.07;0.668	B;B	0.36186	0.022;0.219	T	0.01452	-1.1351	10	0.52906	T	0.07	.	11.8483	0.52397	0.1429:0.0:0.8571:0.0	rs55931436;rs61734655	311;311	C9JXH6;Q9P2D7-3	.;.	N	311	ENSP00000401514:D311N	ENSP00000401514:D311N	D	+	1	0	DNAH1	52340263	0.986000	0.35501	0.008000	0.14137	0.151000	0.21798	2.173000	0.42472	0.643000	0.30638	0.462000	0.41574	GAC	G|0.984;A|0.016	0.016	strong		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52365223	G	A	52365223	3	1	22	1	0	0	0	0	1	0	0	0	4597	1058	37	1	953	1	DNAH1	3	52365223	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40184	52365223	145657207	2102	7210										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52391735	52391735	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgagtatctggagaccaagAggagcgccttccccaggtgg	15	11	1	2	rs11714402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52391735A>C	ENST00000420323.2	+	23	4225	c.3964A>C	c.(3964-3966)Agg>Cgg	p.R1322R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1322	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGACCAAGAGGAGCGCCTT	0.632													C|||	807	0.161142	0.3101	0.1542	5008	,	,		17029	0.0238		0.165	False		,,,				2504	0.1022				p.R1322R		Atlas-SNP	.											DNAH1_ENST00000420323,NS,carcinoma,0,2	DNAH1	534	2	0			c.A3964C						scavenged	.	C		885,3197		102,681,1258	29	32	31		3964	-1	0.6	3	dbSNP_120	31	1421,6957		112,1197,2880	no	coding-synonymous	DNAH1	NM_015512.4		214,1878,4138	CC,CA,AA		16.9611,21.6805,18.5072		1322/4266	52391735	2306,10154	2041	4189	6230	SO:0001819	synonymous_variant	25981	exon23			ACCAAGAGGAGCG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3964A>C	3.37:g.52391735A>C		Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	136	70	0.514706	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																			A|0.837;C|0.163	0.163	strong		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52391735	A	C	52391735	2	2	22	1	0	0	0	0	0	0	0	1	4597	295	11	5		5	DNAH1	3	52391735	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26512	52391735	145630695	2103	7211										
ITIH1	3697	hgsc.bcm.edu	37	chr3	52823864	52823864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccaagctgtgctgcggcAggacgggtaacctgccaggg	17	11	0	0	rs61730358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52823864A>T	ENST00000273283.2	+	19	2339	c.2315A>T	c.(2314-2316)cAg>cTg	p.Q772L	ITIH1_ENST00000537050.1_Missense_Mutation_p.Q484L|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Missense_Mutation_p.Q138L|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q630L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	772	Hyaluronan-binding.				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)		GTGCTGCGGCAGGACGGGTAA	0.627													A|||	96	0.0191693	0.0681	0.0086	5008	,	,		20037	0.0		0.0	False		,,,				2504	0.0				p.Q772L		Atlas-SNP	.											.	ITIH1	108	.	0			c.A2315T						PASS	.	A	LEU/GLN,LEU/GLN,LEU/GLN,LEU/GLN	272,4134	152.9+/-186.6	11,250,1942	55	54	54		1889,1451,1451,2315	5.4	1	3	dbSNP_129	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	113,113,113,113	11,252,6240	TT,TA,AA		0.0233,6.1734,2.1067	benign,benign,benign,benign	630/770,484/624,484/624,772/912	52823864	274,12732	2203	4300	6503	SO:0001583	missense	3697	exon19			TGCGGCAGGACGG		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.2315A>T	3.37:g.52823864A>T	ENSP00000273283:p.Gln772Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_002215	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	36	0.016483516483516484	35	0.07113821138211382	1	0.0027624309392265192	0	0.0	0	0.0	A	15.98	2.991954	0.54041	0.061734	2.33E-4	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.42	5.42	0.78866	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.203207	0.43919	D	0.000515	T	0.01254	0.0041	L	0.49350	1.555	0.33937	D	0.642752	B;P;B;P	0.42337	0.006;0.776;0.425;0.661	B;B;B;P	0.48982	0.015;0.41;0.182;0.597	T	0.06534	-1.0821	10	0.40728	T	0.16	-18.8137	12.9885	0.58606	1.0:0.0:0.0:0.0	rs61730358	630;138;373;772	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	L	772;630;484;325;138	ENSP00000273283:Q772L;ENSP00000443973:Q630L;ENSP00000443847:Q484L;ENSP00000395836:Q325L;ENSP00000384589:Q138L	ENSP00000273283:Q772L	Q	+	2	0	ITIH1	52798904	1.000000	0.71417	0.993000	0.49108	0.101000	0.19017	5.862000	0.69560	2.043000	0.60533	0.460000	0.39030	CAG	A|0.981;T|0.019	0.019	strong		0.627	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52823864	A	T	52823864	3	4	22	1	0	0	0	0	1	0	0	0	7903	188	7	5	2389	5	ITIH1	3	52823864	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	432129	52823864	145198566	2104	7212										
ITIH3	3699	hgsc.bcm.edu	37	chr3	52840325	52840325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtggacggggatccccaCttcatcatccaaattccgga	9	14	2	0	rs34397833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52840325C>T	ENST00000449956.2	+	18	1965	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	653					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGATCCCCACTTCATCATCC	0.582													C|||	219	0.04373	0.1581	0.013	5008	,	,		15639	0.0		0.0	False		,,,				2504	0.001				p.H653H		Atlas-SNP	.											.	ITIH3	132	.	0			c.C1959T						PASS	.	C		412,3666		24,364,1651	53	55	55		1959	4.6	1	3	dbSNP_126	55	1,8389		0,1,4194	no	coding-synonymous	ITIH3	NM_002217.3		24,365,5845	TT,TC,CC		0.0119,10.103,3.3125		653/891	52840325	413,12055	2039	4195	6234	SO:0001819	synonymous_variant	3699	exon18			TCCCCACTTCATC		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1959C>T	3.37:g.52840325C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	123	64	0.520325	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	CCDS46845.1	75	0.034340659340659344	71	0.1443089430894309	4	0.011049723756906077	0	0.0	0	0.0	C	3.086	-0.187992	0.06299	0.10103	1.19E-4	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	T	0.00580	0.0019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00478	-1.1715	5	0.15952	T	0.53	-32.6536	13.5864	0.61933	0.0:0.9234:0.0:0.0766	rs34397833;rs61654726	.	.	.	F	654;642	.	ENSP00000381662:L654F	L	+	1	0	ITIH3	52815365	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	1.124000	0.31320	1.457000	0.47850	0.561000	0.74099	CTT	C|0.971;T|0.029	0.029	strong		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52840325	C	T	52840325	2	4	22	1	0	0	0	0	0	0	0	1	7905	564	20	2		2	ITIH3	3	52840325	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16461	52840325	145182105	2105	7213										
ITIH4	3700	hgsc.bcm.edu	37	chr3	52853480	52853480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtcctgggagtccaagtTgcctggagctgagaacccca	14	11	0	1	rs2276814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52853480T>A	ENST00000266041.4	-	17	2102	c.2006A>T	c.(2005-2007)cAa>cTa	p.Q669L	ITIH4_ENST00000434759.3_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q674L|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q639L|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q639L|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	669	Proline-rich (PRR) potential bioactive peptide.		Q -> L (in dbSNP:rs2276814).		acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGTCCAAGTTGCCTGGAGCT	0.597													T|||	855	0.170727	0.4191	0.0476	5008	,	,		18470	0.0129		0.001	False		,,,				2504	0.2597				p.Q669L		Atlas-SNP	.											.	ITIH4	74	.	0			c.A2006T						PASS	.	T	LEU/GLN,LEU/GLN	1506,2900	480.3+/-358.8	250,1006,947	108	114	112		1916,2006	-3.1	0	3	dbSNP_100	112	15,8585	9.8+/-36.6	0,15,4285	yes	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	113,113	250,1021,5232	AA,AT,TT		0.1744,34.1807,11.6946	benign,benign	639/901,669/931	52853480	1521,11485	2203	4300	6503	SO:0001583	missense	3700	exon17			CCAAGTTGCCTGG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2006A>T	3.37:g.52853480T>A	ENSP00000266041:p.Gln669Leu	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	254	124	0.488189	NM_002218	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	217	0.09935897435897435	196	0.3983739837398374	11	0.03038674033149171	9	0.015734265734265736	1	0.0013192612137203166	T	0.014	-1.594575	0.00857	0.341807	0.001744	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.01422	4.95;4.91;4.97;4.98	1.54	-3.08	0.05347	.	83.853200	0.00166	N	0.000000	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.45026	-0.9289	9	0.25106	T	0.35	0.7824	2.4753	0.04575	0.3815:0.0:0.3681:0.2504	rs2276814;rs52795352;rs59485826;rs2276814	639;674;669;639	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	L	669;639;674;639;627	ENSP00000266041:Q669L;ENSP00000340520:Q639L;ENSP00000417824:Q674L;ENSP00000384425:Q639L	ENSP00000266041:Q669L	Q	-	2	0	ITIH4	52828520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-1.104000	0.03015	-0.695000	0.03696	CAA	T|0.888;A|0.112	0.112	strong		0.597	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		A	52853480	T	A	52853480	3	1	22	1	0	0	0	0	1	0	0	0	7906	1812	63	5	818	5	ITIH4	3	52853480	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13155	52853480	145168950	2106	7214										
ITIH4	3700	hgsc.bcm.edu	37	chr3	52860876	52860876	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacacccccaaacgccgcttGagcagctcctcatagaccag	7	17	1	2	rs143427404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:52860876G>A	ENST00000266041.4	-	4	546	c.450C>T	c.(448-450)ctC>ctT	p.L150L	ITIH4_ENST00000434759.3_Silent_p.L62L|ITIH4_ENST00000485816.1_Silent_p.L150L|ITIH4_ENST00000346281.5_Silent_p.L150L|ITIH4_ENST00000406595.1_Silent_p.L150L|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	150					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AACGCCGCTTGAGCAGCTCCT	0.612													G|||	10	0.00199681	0.0	0.0058	5008	,	,		19934	0.0		0.006	False		,,,				2504	0.0				p.L150L		Atlas-SNP	.											ITIH4,NS,carcinoma,-2,1	ITIH4	74	1	0			c.C450T						PASS	.	G	,	10,4396	16.8+/-37.8	0,10,2193	68	66	67		450,450	-0.1	0.1	3	dbSNP_134	67	96,8504	53.6+/-114.3	1,94,4205	no	coding-synonymous,coding-synonymous	ITIH4	NM_001166449.1,NM_002218.4	,	1,104,6398	AA,AG,GG		1.1163,0.227,0.815	,	150/901,150/931	52860876	106,12900	2203	4300	6503	SO:0001819	synonymous_variant	3700	exon4			CCGCTTGAGCAGC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.450C>T	3.37:g.52860876G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	147	69	0.469388	NM_001166449	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	6.946	0.544330	0.13312	0.00227	0.011163	ENSG00000055955	ENST00000441637	.	.	.	5.4	-0.0456	0.13850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.1602	9.2513	0.37557	0.0785:0.6437:0.1828:0.095	.	.	.	.	X	20	.	.	Q	-	1	0	ITIH4	52835916	0.000000	0.05858	0.113000	0.21522	0.757000	0.42996	-0.468000	0.06656	-0.013000	0.14199	0.561000	0.74099	CAA	G|0.995;A|0.005	0.005	strong		0.612	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		A	52860876	G	A	52860876	2	1	22	1	0	0	0	0	0	0	0	1	7906	1277	45	2		2	ITIH4	3	52860876	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7396	52860876	145161554	2107	7215										
CHDH	55349	hgsc.bcm.edu	37	chr3	53857676	53857676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcggccgcgtggccagtaCagcacgcggccgtccaggcc	15	17	0	0	rs17053532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:53857676C>T	ENST00000315251.6	-	3	797	c.360G>A	c.(358-360)ctG>ctA	p.L120L		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	120					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGGCCAGTACAGCACGCGGC	0.682													C|||	293	0.0585064	0.0068	0.0994	5008	,	,		12278	0.001		0.1779	False		,,,				2504	0.0358				p.L120L		Atlas-SNP	.											.	CHDH	34	.	0			c.G360A						PASS	.	C		96,3886		2,92,1897	7	9	8		360	2.9	1	3	dbSNP_123	8	974,6690		56,862,2914	no	coding-synonymous	CHDH	NM_018397.4		58,954,4811	TT,TC,CC		12.7088,2.4108,9.1877		120/595	53857676	1070,10576	1991	3832	5823	SO:0001819	synonymous_variant	55349	exon3			CCAGTACAGCACG	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.360G>A	3.37:g.53857676C>T		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	14	11	0.785714	NM_018397	Q9NY17	Silent	SNP	ENST00000315251.6	37	CCDS2873.1																																																																																			C|0.905;T|0.095	0.095	strong		0.682	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		T	53857676	C	T	53857676	2	4	22	1	0	0	0	0	0	0	0	1	3333	465	17	2		2	CHDH	3	53857676	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	996800	53857676	144164754	2108	7216										
LRTM1	57408	hgsc.bcm.edu	37	chr3	54958884	54958884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcaagctccctcagctgAgggagggaatggaaaagtct	12	8	3	1	rs35757787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:54958884A>G	ENST00000273286.5	-	2	528	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.P46P|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	122						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCCTCAGCTGAGGGAGGGAAT	0.478													A|||	154	0.0307508	0.1127	0.0058	5008	,	,		20302	0.0		0.001	False		,,,				2504	0.0				p.P122P		Atlas-SNP	.											.	LRTM1	52	.	0			c.T366C						PASS	.	A	,	420,3986	205.8+/-227.6	14,392,1797	76	75	75		,366	-11.5	0	3	dbSNP_126	75	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous	CACNA2D3,LRTM1	NM_018398.2,NM_020678.2	,	14,394,6095	GG,GA,AA		0.0233,9.5325,3.2447	,	,122/346	54958884	422,12584	2203	4300	6503	SO:0001819	synonymous_variant	57408	exon2			CAGCTGAGGGAGG	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.366T>C	3.37:g.54958884A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	124	67	0.540323	NM_020678	Q8IUU2	Silent	SNP	ENST00000273286.5	37	CCDS2876.1																																																																																			A|0.971;G|0.029	0.029	strong		0.478	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		G	54958884	A	G	54958884	2	3	22	1	0	0	0	0	0	0	0	1	9044	291	11	3		3	LRTM1	3	54958884	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1101208	54958884	143063546	2109	7217										
CACNA2D3	55799	hgsc.bcm.edu	37	chr3	55108149	55108149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttccccataggagaatgcAagggagtgtgggggtgcgcc	16	9	0	1	rs17054785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:55108149A>G	ENST00000474759.1	+	38	3240	c.3192A>G	c.(3190-3192)gcA>gcG	p.A1064A	CACNA2D3_ENST00000490478.1_Silent_p.A970A|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.A1064A|CACNA2D3_ENST00000288197.5_Silent_p.A1064A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1064						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGGAGAATGCAAGGGAGTGTG	0.537													A|||	505	0.100839	0.174	0.0965	5008	,	,		18872	0.0		0.1541	False		,,,				2504	0.0542				p.A1064A		Atlas-SNP	.											.	CACNA2D3	159	.	0			c.A3192G						PASS	.	A		692,3350		67,558,1396	122	120	121		3192	-10	0.4	3	dbSNP_123	121	1254,7058		97,1060,2999	no	coding-synonymous	CACNA2D3	NM_018398.2		164,1618,4395	GG,GA,AA		15.0866,17.1202,15.752		1064/1092	55108149	1946,10408	2021	4156	6177	SO:0001819	synonymous_variant	55799	exon38			GAATGCAAGGGAG	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3192A>G	3.37:g.55108149A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	114	56	0.491228	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																			A|0.895;G|0.105	0.105	strong		0.537	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			G	55108149	A	G	55108149	2	3	22	1	0	0	0	0	0	0	0	1	2550	117	5	2		2	CACNA2D3	3	55108149	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	149265	55108149	142914281	2110	7218										
CACNA2D3	55799	hgsc.bcm.edu	37	chr3	55108188	55108188	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagtctccaagcccagacAgtcctccttctgctccctct	6	19	3	1	rs35471424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:55108188A>G	ENST00000474759.1	+	38	3279	c.3231A>G	c.(3229-3231)acA>acG	p.T1077T	CACNA2D3_ENST00000490478.1_Silent_p.T983T|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.T1077T|CACNA2D3_ENST00000288197.5_Silent_p.T1077T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1077						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGCCCAGACAGTCCTCCTTC	0.517													A|||	439	0.0876597	0.115	0.1037	5008	,	,		19185	0.0		0.159	False		,,,				2504	0.0562				p.T1077T		Atlas-SNP	.											.	CACNA2D3	159	.	0			c.A3231G						PASS	.	A		495,3737		35,425,1656	179	175	177		3231	-0.4	0	3	dbSNP_126	177	1325,7107		105,1115,2996	no	coding-synonymous	CACNA2D3	NM_018398.2		140,1540,4652	GG,GA,AA		15.7139,11.6966,14.3714		1077/1092	55108188	1820,10844	2116	4216	6332	SO:0001819	synonymous_variant	55799	exon38			CCAGACAGTCCTC	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3231A>G	3.37:g.55108188A>G		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	121	62	0.512397	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																			A|0.903;G|0.097	0.097	strong		0.517	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			G	55108188	A	G	55108188	2	3	22	1	0	0	0	0	0	0	0	1	2550	175	7	3		3	CACNA2D3	3	55108188	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39	55108188	142914242	2111	7219										
ERC2	26059	hgsc.bcm.edu	37	chr3	56026204	56026204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcgtcgcggtagtaagaCgcctctttatcgagctgttt	10	11	1	1	rs61732592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:56026204C>T	ENST00000288221.6	-	11	2391	c.2136G>A	c.(2134-2136)gcG>gcA	p.A712A		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	712						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGTAGTAAGACGCCTCTTTAT	0.458													C|||	44	0.00878594	0.0325	0.0014	5008	,	,		19132	0.0		0.0	False		,,,				2504	0.0				p.A712A		Atlas-SNP	.											ERC2_ENST00000288221,caecum,carcinoma,-1,2	ERC2	221	2	0			c.G2136A						PASS	.	C		77,3739		2,73,1833	195	189	191		2136	1.6	1	3	dbSNP_129	191	1,8253		0,1,4126	no	coding-synonymous	ERC2	NM_015576.1		2,74,5959	TT,TC,CC		0.0121,2.0178,0.6462		712/958	56026204	78,11992	1908	4127	6035	SO:0001819	synonymous_variant	26059	exon11			GTAAGACGCCTCT	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2136G>A	3.37:g.56026204C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	231	118	0.510823	NM_015576	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	CCDS46851.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	C	6.971	0.549089	0.13312	0.020178	1.21E-4	ENSG00000187672	ENST00000492584	.	.	.	5.47	1.64	0.23874	.	.	.	.	.	T	0.15652	0.0377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06144	-1.0843	4	.	.	.	-11.4437	5.8817	0.18858	0.0:0.2089:0.3824:0.4087	.	.	.	.	H	363	.	.	R	-	2	0	ERC2	56001244	0.126000	0.22350	1.000000	0.80357	0.978000	0.69477	-0.482000	0.06544	0.039000	0.15632	-0.469000	0.05056	CGT	C|0.988;T|0.012	0.012	strong		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56026204	C	T	56026204	2	4	22	1	0	0	0	0	0	0	0	1	5211	523	19	1		1	ERC2	3	56026204	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	918016	56026204	141996226	2112	7220										
CCDC66	285331	hgsc.bcm.edu	37	chr3	56650012	56650012	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcaagacatgattctgatGaaatcagtggtaaaatgaat	8	4	3	5	rs4681904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:56650012G>C	ENST00000394672.3	+	13	1844	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.E592Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E558Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	592			E -> K (in dbSNP:rs4681904).		post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TGATTCTGATGAAATCAGTGG	0.318													G|||	1553	0.310104	0.4138	0.183	5008	,	,		17328	0.375		0.1223	False		,,,				2504	0.3865				p.E592Q		Atlas-SNP	.											.	CCDC66	145	.	0			c.G1774C						PASS	.	G	GLN/GLU,GLN/GLU	1704,2702		347,1010,846	85	92	89		1672,1774	3.7	0	3	dbSNP_111	89	1063,7517		116,831,3343	yes	missense,missense	CCDC66	NM_001012506.4,NM_001141947.1	29,29	463,1841,4189	CC,CG,GG		12.3893,38.6745,21.3076	benign,benign	558/915,592/949	56650012	2767,10219	2203	4290	6493	SO:0001583	missense	285331	exon13			TCTGATGAAATCA	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1774G>C	3.37:g.56650012G>C	ENSP00000378167:p.Glu592Gln	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_001141947	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	613	0.2806776556776557	242	0.491869918699187	68	0.1878453038674033	212	0.3706293706293706	91	0.12005277044854881	G	13.09	2.134654	0.37630	0.386745	0.123893	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24350	1.86;1.89;1.89;1.89	5.59	3.71	0.42584	.	0.486335	0.22939	N	0.053809	T	0.00012	0.0000	L	0.46157	1.445	0.46725	P	8.299999999999974E-4	P	0.35348	0.496	B	0.34242	0.178	T	0.48603	-0.9021	9	0.23891	T	0.37	-2.8591	9.7068	0.40220	0.0801:0.141:0.7789:0.0	rs4681904;rs28506144;rs52797779	592	A2RUB6	CCD66_HUMAN	Q	548;592;558;592	ENSP00000401451:E548Q;ENSP00000378167:E592Q;ENSP00000326050:E558Q;ENSP00000404320:E592Q	ENSP00000326050:E558Q	E	+	1	0	CCDC66	56625052	0.888000	0.30383	0.026000	0.17262	0.558000	0.35554	2.381000	0.44336	1.511000	0.48818	0.591000	0.81541	GAA	A|0.009;C|0.230;G|0.761	0.230	strong		0.318	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		C	56650012	G	C	56650012	3	2	22	1	0	0	0	0	1	0	0	0	2838	1291	45	4	1824	4	CCDC66	3	56650012	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	623808	56650012	141372418	2113	7221										
CCDC66	285331	hgsc.bcm.edu	37	chr3	56650054	56650055	+	In_Frame_Ins	INS	-	-	CTC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatatgaattctacgacttINSctaagaaggatactggtgtg					rs112267342|rs111934125|rs74400129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:56650054_56650055insCTC	ENST00000394672.3	+	13	1886_1887	c.1816_1817insCTC	c.(1816-1818)tct>tCTCct	p.606_607insP	CCDC66_ENST00000436465.2_In_Frame_Ins_p.606_607insP|CCDC66_ENST00000326595.7_In_Frame_Ins_p.572_573insP	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	606					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTCTACGACTTCTAAGAAGGAT	0.287																																					p.S606delinsSP		Pindel,Atlas-Indel	.											CCDC66_ENST00000394672,caecum,carcinoma,0,2	CCDC66	145	2	0			c.1816_1817insCTC						PASS	.		,	1614,1970,682		328,715,243,474,307,66					,	4.3	0.6		dbSNP_131	94	983,2804,4449		76,306,525,488,1522,1201	no	codingComplex,codingComplex	CCDC66	NM_001141947.1,NM_001012506.4	,	404,1021,768,962,1829,1267	A1A1,A1A2,A1R,A2A2,A2R,RR		45.9811,53.8209,58.9586	,	,		2597,4774,5131				SO:0001652	inframe_insertion	285331	exon13			.	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	Exception_encountered	3.37:g.56650054_56650055insCTC	ENSP00000378167:p.Ser606_Lys607insPro	Somatic	88	.	.		WXS	Illumina HiSeq	Phase_I	85	27	0.318	NM_001141947	B3KWL8|Q4VC34|Q8N949	In_Frame_Ins	INS	ENST00000394672.3	37	CCDS46852.1																																																																																			CTC|0.250;CTT|0.750	0.250	strong		0.287	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		CTC	56650055	-	CTC	56650054	7	5	22	1	0	1	1	0	0	0	0	0	2838	1783	62	0	1866	0	CCDC66	3	56650054	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	42	56650054	141372376	2114	7222										
C3orf63	23272	hgsc.bcm.edu	37	chr3	56658871	56658871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacctgttaaaaagactaTgtgtcgttgctgtatgttct	8	6	1	1	rs2291498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:56658871T>C	ENST00000493960.2	-	22	4313	c.4303A>G	c.(4303-4305)Ata>Gta	p.I1435V	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000431842.2_Missense_Mutation_p.I998V|FAM208A_ENST00000355628.5_Missense_Mutation_p.I1374V	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1435			I -> V (in dbSNP:rs2291498). {ECO:0000269|PubMed:11149944}.				poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAAAGACTATGTGTCGTTGC	0.383													T|||	1464	0.292332	0.326	0.1744	5008	,	,		19153	0.377		0.1054	False		,,,				2504	0.4356				p.I1435V		Atlas-SNP	.											.	FAM208A	113	.	0			c.A4303G						PASS	.	T	VAL/ILE,VAL/ILE	1410,2996	460.9+/-352.8	228,954,1021	116	116	116		4303,2992	1.8	0.9	3	dbSNP_100	116	886,7714	198.9+/-243.1	48,790,3462	yes	missense,missense	FAM208A	NM_001112736.1,NM_015224.3	29,29	276,1744,4483	CC,CT,TT		10.3023,32.0018,17.6534	benign,benign	1435/1513,998/1234	56658871	2296,10710	2203	4300	6503	SO:0001583	missense	23272	exon22			AGACTATGTGTCG	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4303A>G	3.37:g.56658871T>C	ENSP00000417509:p.Ile1435Val	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	193	82	0.42487	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	508	0.2326007326007326	168	0.34146341463414637	64	0.17679558011049723	206	0.36013986013986016	70	0.09234828496042216	T	6.411	0.443887	0.12164	0.320018	0.103023	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.46819	0.86;0.86;0.86	5.7	1.82	0.25136	.	0.162090	0.42420	N	0.000702	T	0.00012	0.0000	N	0.24115	0.695	0.45607	P	0.0014579999999999593	B;B;B;B	0.15473	0.003;0.007;0.012;0.013	B;B;B;B	0.17979	0.009;0.016;0.02;0.004	T	0.41556	-0.9502	9	0.13108	T	0.6	-2.097	5.6455	0.17586	0.1198:0.2551:0.0:0.6251	rs2291498;rs52804263;rs58959416;rs2291498	1435;1374;998;1435	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	V	998;1435;1374	ENSP00000399410:I998V;ENSP00000417509:I1435V;ENSP00000347845:I1374V	ENSP00000347845:I1374V	I	-	1	0	C3orf63	56633911	0.719000	0.27986	0.930000	0.37139	0.966000	0.64601	-0.123000	0.10611	0.982000	0.38575	0.533000	0.62120	ATA	T|0.785;C|0.215	0.215	strong		0.383	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		C	56658871	T	C	56658871	3	2	22	1	0	0	0	0	1	0	0	0	2239	1464	51	2	781	2	C3orf63	3	56658871	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8817	56658871	141363559	2115	7223										
C3orf63	23272	hgsc.bcm.edu	37	chr3	56667213	56667213	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaaatttgaaagagctggTtgagcagaaatgtttacatc	9	4	0	4	rs34828128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:56667213T>C	ENST00000493960.2	-	18	3616	c.3606A>G	c.(3604-3606)caA>caG	p.Q1202Q	FAM208A_ENST00000355628.5_Silent_p.Q1141Q|FAM208A_ENST00000431842.2_Silent_p.Q765Q	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1202							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAGAGCTGGTTGAGCAGAAA	0.353													T|||	31	0.0061901	0.0	0.0101	5008	,	,		18670	0.0		0.0149	False		,,,				2504	0.0092				p.Q1202Q		Atlas-SNP	.											.	FAM208A	113	.	0			c.A3606G						PASS	.	T	,	17,4389	24.3+/-50.5	0,17,2186	114	116	115		3606,2295	-1.5	1	3	dbSNP_126	115	154,8446	73.8+/-136.5	3,148,4149	no	coding-synonymous,coding-synonymous	FAM208A	NM_001112736.1,NM_015224.3	,	3,165,6335	CC,CT,TT		1.7907,0.3858,1.3148	,	1202/1513,765/1234	56667213	171,12835	2203	4300	6503	SO:0001819	synonymous_variant	23272	exon18			AGCTGGTTGAGCA	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3606A>G	3.37:g.56667213T>C		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	156	68	0.435897	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																			T|0.987;C|0.013	0.013	strong		0.353	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		C	56667213	T	C	56667213	2	2	22	1	0	0	0	0	0	0	0	1	2239	1722	60	2		2	C3orf63	3	56667213	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8342	56667213	141355217	2116	7224										
APPL1	26060	hgsc.bcm.edu	37	chr3	57303684	57303684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagagagtgatttgggagAaggaggaaagaagagagaat	17	0	0	7	rs11544593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:57303684A>G	ENST00000288266.3	+	22	2246	c.2099A>G	c.(2098-2100)gAa>gGa	p.E700G	ASB14_ENST00000487349.1_Intron|ASB14_ENST00000389601.3_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	700			E -> G (in dbSNP:rs11544593).		apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATTTGGGAGAAGGAGGAAAG	0.443													A|||	364	0.0726837	0.0068	0.1282	5008	,	,		17962	0.004		0.159	False		,,,				2504	0.1043				p.E700G		Atlas-SNP	.											.	APPL1	59	.	0			c.A2099G						PASS	.	A	,GLY/GLU,	191,4215	121.7+/-159.2	3,185,2015	153	147	149		,2099,	5.7	1	3	dbSNP_120	149	1470,7130	279.9+/-294.2	132,1206,2962	yes	intron,missense,intron	APPL1,ASB14	NM_001142733.2,NM_012096.2,NM_130387.5	,98,	135,1391,4977	GG,GA,AA		17.093,4.335,12.771	,benign,	,700/710,	57303684	1661,11345	2203	4300	6503	SO:0001583	missense	26060	exon22			TGGGAGAAGGAGG	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.2099A>G	3.37:g.57303684A>G	ENSP00000288266:p.Glu700Gly	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	191	0.08745421245421245	8	0.016260162601626018	54	0.14917127071823205	2	0.0034965034965034965	127	0.16754617414248021	A	11.55	1.671067	0.29693	0.04335	0.17093	ENSG00000157500	ENST00000288266	T	0.12361	2.69	5.65	5.65	0.86999	.	0.113216	0.64402	D	0.000012	T	0.00039	0.0001	L	0.29908	0.895	0.09310	P	1.0	P	0.34522	0.455	B	0.30105	0.111	T	0.36841	-0.9731	9	0.49607	T	0.09	.	16.1611	0.81712	1.0:0.0:0.0:0.0	rs11544593;rs61231163;rs11544593	700	Q9UKG1	DP13A_HUMAN	G	700	ENSP00000288266:E700G	ENSP00000288266:E700G	E	+	2	0	APPL1	57278724	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.689000	0.91265	2.272000	0.75746	0.460000	0.39030	GAA	A|0.892;G|0.108	0.108	strong		0.443	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		G	57303684	A	G	57303684	3	3	22	1	0	0	0	0	1	0	0	0	817	246	9	2	2185	2	APPL1	3	57303684	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	636471	57303684	140718746	2117	7225										
DNAH12	201625	hgsc.bcm.edu	37	chr3	57469151	57469151	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacagtccgggctttttcTacataagatatcagatccat	6	11	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:57469151T>C	ENST00000351747.2	-	13	1782	c.1602A>G	c.(1600-1602)gtA>gtG	p.V534V	DNAH12_ENST00000389536.4_Silent_p.V534V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	534	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGGCTTTTTCTACATAAGATA	0.318																																					p.V534V		Atlas-SNP	.											.	DNAH12	182	.	0			c.A1602G						PASS	.						269	210	228					3																	57469151		692	1591	2283	SO:0001819	synonymous_variant	201625	exon13			TTTTTCTACATAA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1602A>G	3.37:g.57469151T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	155	79	0.509677	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																				.	.	none		0.318	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		C	57469151	T	C	57469151	2	2	22	1	0	0	0	0	0	0	0	1	4600	1509	53	3		3	DNAH12	3	57469151	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	165467	57469151	140553279	2118	7226										
DNAH12	201625	hgsc.bcm.edu	37	chr3	57528503	57528503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactttgtgttggtgtatcaAcgcctatgttttctgggaga	11	6	2	1	rs9311651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:57528503A>G	ENST00000351747.2	-	2	275	c.95T>C	c.(94-96)gTt>gCt	p.V32A	DNAH12_ENST00000311202.6_Missense_Mutation_p.V32A|DNAH12_ENST00000389536.4_Missense_Mutation_p.V32A	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	32	Stem. {ECO:0000250}.		V -> A (in dbSNP:rs9311651). {ECO:0000269|PubMed:14702039}.		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGGTGTATCAACGCCTATGTT	0.398													A|||	1084	0.216454	0.5477	0.1715	5008	,	,		17572	0.003		0.1461	False		,,,				2504	0.093				p.V32A		Atlas-SNP	.											.	DNAH12	182	.	0			c.T95C						PASS	.	A	ALA/VAL,ALA/VAL	2164,2242	585.5+/-386.3	531,1102,570	147	138	141		95,95	-2.9	0.2	3	dbSNP_119	141	1302,7298	257.9+/-281.7	102,1098,3100	yes	missense,missense	DNAH12	NM_178504.4,NM_198564.3	64,64	633,2200,3670	GG,GA,AA		15.1395,49.1148,26.6492	possibly-damaging,possibly-damaging	32/3093,32/458	57528503	3466,9540	2203	4300	6503	SO:0001583	missense	201625	exon2			GTATCAACGCCTA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.95T>C	3.37:g.57528503A>G	ENSP00000295937:p.Val32Ala	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	108	46	0.425926	NM_198564	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		453	0.20741758241758243	273	0.5548780487804879	72	0.19889502762430938	1	0.0017482517482517483	107	0.14116094986807387	A	1.215	-0.628672	0.03610	0.491148	0.151395	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20200	2.24;2.09;3.76;3.21	5.75	-2.94	0.05581	.	0.438335	0.19737	N	0.107210	T	0.00012	0.0000	L	0.60455	1.87	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.47548	-0.9109	9	0.09338	T	0.73	.	3.9621	0.09415	0.3715:0.0:0.3074:0.3211	rs9311651;rs52837959;rs9311651	32;32	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	A	32	ENSP00000295937:V32A;ENSP00000418137:V32A;ENSP00000374187:V32A;ENSP00000312554:V32A	ENSP00000312554:V32A	V	-	2	0	DNAH12	57503543	0.002000	0.14202	0.229000	0.23960	0.644000	0.38419	0.065000	0.14466	-0.116000	0.11893	-0.274000	0.10170	GTT	A|0.760;G|0.240	0.240	strong		0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		G	57528503	A	G	57528503	3	3	22	1	0	0	0	0	1	0	0	0	4600	43	2	2	9458	2	DNAH12	3	57528503	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59352	57528503	140493927	2119	7227										
SLMAP	7871	hgsc.bcm.edu	37	chr3	57743531	57743531	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttttgattgcaaagtgctAtcaaggaaccacgctctcgt	8	10	2	1	rs147270008		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:57743531A>G	ENST00000428312.1	+	1	247	c.153A>G	c.(151-153)ctA>ctG	p.L51L	SLMAP_ENST00000449503.2_Silent_p.L51L|SLMAP_ENST00000295951.3_Silent_p.L51L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.L51L|SLMAP_ENST00000383718.3_Silent_p.L51L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GCAAAGTGCTATCAAGGAACC	0.498																																					p.L51L		Atlas-SNP	.											.	SLMAP	46	.	0			c.A153G						PASS	.	A		1,4405		0,1,2202	78	70	73		153	1.8	1	3	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	SLMAP	NM_007159.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		51/812	57743531	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7871	exon1			AGTGCTATCAAGG	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.153A>G	3.37:g.57743531A>G		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	223	106	0.475336	NM_007159	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37																																																																																				A|1.000;G|0.000	0.000	weak		0.498	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		G	57743531	A	G	57743531	2	3	22	1	0	0	0	0	0	0	0	1	14749	436	16	2		2	SLMAP	3	57743531	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	215028	57743531	140278899	2120	7228										
FLNB	2317	hgsc.bcm.edu	37	chr3	58139172	58139172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgactgaggcagagattgtGcccatggggaagaactcaca	14	8	1	4	rs60599272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:58139172G>A	ENST00000295956.4	+	39	6603	c.6438G>A	c.(6436-6438)gtG>gtA	p.V2146V	FLNB_ENST00000493452.1_Silent_p.V1953V|FLNB_ENST00000490882.1_Silent_p.V2177V|FLNB_ENST00000348383.5_Silent_p.V2105V|FLNB_ENST00000429972.2_Silent_p.V2135V|FLNB_ENST00000419752.2_Silent_p.V1966V|FLNB_ENST00000358537.3_Silent_p.V2122V|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2146	Interaction with FLNA 1.|Interaction with INPPL1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGAGATTGTGCCCATGGGGA	0.612													G|||	122	0.024361	0.0877	0.0086	5008	,	,		22137	0.0		0.0	False		,,,				2504	0.0				p.V2177V		Atlas-SNP	.											.	FLNB	430	.	0			c.G6531A						PASS	.	G	,,,	425,3981	206.5+/-228.1	26,373,1804	98	89	92		6531,6405,6366,6438	0.2	1	3	dbSNP_129	92	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	26,377,6100	AA,AG,GG		0.0465,9.6459,3.2985	,,,	2177/2634,2135/2592,2122/2579,2146/2603	58139172	429,12577	2203	4300	6503	SO:0001819	synonymous_variant	2317	exon40			GATTGTGCCCATG	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6438G>A	3.37:g.58139172G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	141	73	0.51773	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1	45	0.020604395604395604	43	0.08739837398373984	2	0.0055248618784530384	0	0.0	0	0.0	G	4.692	0.128591	0.08981	0.096459	4.65E-4	ENSG00000136068	ENST00000466455	.	.	.	5.77	0.231	0.15377	.	.	.	.	.	T	0.01222	0.0040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06716	-1.0811	4	.	.	.	.	0.8171	0.01105	0.2853:0.1233:0.3429:0.2485	rs60599272	.	.	.	T	70	.	.	A	+	1	0	FLNB	58114212	0.055000	0.20627	0.979000	0.43373	0.529000	0.34654	-0.906000	0.04071	0.087000	0.17167	-1.151000	0.01829	GCC	G|0.971;A|0.029	0.029	strong		0.612	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58139172	G	A	58139172	2	1	22	1	0	0	0	0	0	0	0	1	5934	1306	46	2		2	FLNB	3	58139172	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	395641	58139172	139883258	2121	7229										
ACOX2	8309	hgsc.bcm.edu	37	chr3	58512237	58512237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttctcaccctcgtaggtAcaggaggccgacaatttggt	12	10	1	0	rs1127745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:58512237A>G	ENST00000302819.5	-	10	1593	c.1302T>C	c.(1300-1302)tgT>tgC	p.C434C	ACOX2_ENST00000459701.2_Silent_p.C420C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	434					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCTCGTAGGTACAGGAGGCCG	0.612													G|||	1418	0.283147	0.6982	0.1599	5008	,	,		18520	0.2262		0.0775	False		,,,				2504	0.0798				p.C434C		Atlas-SNP	.											.	ACOX2	53	.	0			c.T1302C						PASS	.	G		2761,1645	504.9+/-366.0	877,1007,319	82	66	71		1302	0.2	0.8	3	dbSNP_86	71	847,7753	780.1+/-407.7	37,773,3490	no	coding-synonymous	ACOX2	NM_003500.3		914,1780,3809	GG,GA,AA		9.8488,37.3355,27.741		434/682	58512237	3608,9398	2203	4300	6503	SO:0001819	synonymous_variant	8309	exon10			GTAGGTACAGGAG	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1302T>C	3.37:g.58512237A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	166	68	0.409639	NM_003500	A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	CCDS33775.1																																																																																			A|0.718;G|0.282	0.282	strong		0.612	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			G	58512237	A	G	58512237	2	3	22	1	0	0	0	0	0	0	0	1	159	389	14	2		2	ACOX2	3	58512237	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	373065	58512237	139510193	2122	7230										
ACOX2	8309	hgsc.bcm.edu	37	chr3	58512285	58512285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcaggccactcagcttTgagtagccatgtccgccaca	11	13	1	1	rs13097249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:58512285T>C	ENST00000302819.5	-	10	1545	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	ACOX2_ENST00000459701.2_Silent_p.S404S	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	418					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CACTCAGCTTTGAGTAGCCAT	0.587													T|||	245	0.0489217	0.1362	0.0317	5008	,	,		19019	0.0		0.0338	False		,,,				2504	0.0092				p.S418S		Atlas-SNP	.											.	ACOX2	53	.	0			c.A1254G						PASS	.	T		503,3903	231.4+/-245.2	22,459,1722	85	71	75		1254	-8.8	0.4	3	dbSNP_121	75	390,8210	126.2+/-184.7	8,374,3918	no	coding-synonymous	ACOX2	NM_003500.3		30,833,5640	CC,CT,TT		4.5349,11.4163,6.8661		418/682	58512285	893,12113	2203	4300	6503	SO:0001819	synonymous_variant	8309	exon10			CAGCTTTGAGTAG	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1254A>G	3.37:g.58512285T>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	186	76	0.408602	NM_003500	A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	CCDS33775.1																																																																																			T|0.932;C|0.068	0.068	strong		0.587	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			C	58512285	T	C	58512285	2	2	22	1	0	0	0	0	0	0	0	1	159	1799	63	2		2	ACOX2	3	58512285	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48	58512285	139510145	2123	7231										
FAM107A	11170	hgsc.bcm.edu	37	chr3	58552329	58552329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccctacagctctctctCttcgctggtcagtgtggcaa	10	14	3	0	rs11539086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:58552329C>G	ENST00000394481.1	-	5	979	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000447756.2_Missense_Mutation_p.E169Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.E172Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.E141Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	141			E -> Q (in dbSNP:rs11539086).		regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AGCTCTCTCTCTTCGCTGGTC	0.602													C|||	545	0.108826	0.2579	0.1095	5008	,	,		17509	0.004		0.0736	False		,,,				2504	0.0511				p.E141Q		Atlas-SNP	.											.	FAM107A	33	.	0			c.G421C						PASS	.	C	GLN/GLU,GLN/GLU	982,3424	367.8+/-318.4	121,740,1342	67	72	70		421,421	5.1	0.1	3	dbSNP_120	70	568,8032	153.0+/-207.5	23,522,3755	yes	missense,missense	FAM107A	NM_001076778.1,NM_007177.2	29,29	144,1262,5097	GG,GC,CC		6.6047,22.2878,11.9176	probably-damaging,probably-damaging	141/145,141/145	58552329	1550,11456	2203	4300	6503	SO:0001583	missense	11170	exon4			CTCTCTCTTCGCT	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.421G>C	3.37:g.58552329C>G	ENSP00000377991:p.Glu141Gln	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	68	23	0.338235	NM_001076778	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	CCDS2892.1	211	0.09661172161172162	117	0.23780487804878048	36	0.09944751381215469	5	0.008741258741258742	53	0.06992084432717678	C	20.0	3.929709	0.73327	0.222878	0.066047	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000474531;ENST00000447756	T;T;T;T	0.38722	1.24;1.24;1.12;1.18	5.07	5.07	0.68467	.	0.103252	0.64402	D	0.000004	T	0.00039	0.0001	L	0.45581	1.43	0.20074	P	0.9999392385	B;B;D	0.71674	0.001;0.016;0.998	B;B;D	0.75484	0.006;0.009;0.986	T	0.00244	-1.1883	9	0.38643	T	0.18	-21.1537	18.4214	0.90591	0.0:1.0:0.0:0.0	rs11539086;rs56558641;rs11539086	169;172;141	B7ZAY5;B3KNQ4;O95990	.;.;F107A_HUMAN	Q	141;141;172;169	ENSP00000354270:E141Q;ENSP00000377991:E141Q;ENSP00000419124:E172Q;ENSP00000400858:E169Q	ENSP00000354270:E141Q	E	-	1	0	FAM107A	58527369	1.000000	0.71417	0.119000	0.21687	0.109000	0.19521	4.727000	0.61993	2.509000	0.84616	0.563000	0.77884	GAG	C|0.892;G|0.108	0.108	strong		0.602	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		G	58552329	C	G	58552329	3	3	22	1	0	0	0	0	1	0	0	0	5389	922	32	4	17	4	FAM107A	3	58552329	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40044	58552329	139470101	2124	7232										
ADAMTS9	56999	hgsc.bcm.edu	37	chr3	64672474	64672474	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcggtaatgcgcctgggAggaggtagaggaggaagagg	22	4	0	2	rs36115950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:64672474A>T	ENST00000498707.1	-	2	628	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.S96T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S96T|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	96	Poly-Ser.		S -> P (in dbSNP:rs36115950). {ECO:0000269|PubMed:12514189}.|S -> T (in dbSNP:rs36115950).		glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCGCCTGggaggaggtagag	0.562													A|||	632	0.126198	0.2504	0.1916	5008	,	,		16654	0.0734		0.0328	False		,,,				2504	0.0624				p.S96T		Atlas-SNP	.											.	ADAMTS9	206	.	0			c.T286A						PASS	.	A	THR/SER	1007,3399	373.7+/-320.9	117,773,1313	60	52	55		286	0.9	1	3	dbSNP_126	55	290,8310	107.8+/-168.5	3,284,4013	yes	missense	ADAMTS9	NM_182920.1	58	120,1057,5326	TT,TA,AA		3.3721,22.8552,9.9723	benign	96/1936	64672474	1297,11709	2203	4300	6503	SO:0001583	missense	56999	exon2			CCTGGGAGGAGGT	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.286T>A	3.37:g.64672474A>T	ENSP00000418735:p.Ser96Thr	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	184	79	0.429348	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	265	0.12133699633699634	115	0.23373983739837398	63	0.17403314917127072	58	0.10139860139860139	29	0.03825857519788918	A	5.460	0.269907	0.10349	0.228552	0.033721	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.06768	3.26;3.26;3.26	4.89	0.91	0.19337	Peptidase M12B, propeptide (1);	0.268793	0.30630	N	0.009215	T	0.00012	0.0000	L	0.34521	1.04	0.39638	P	0.029722000000000026	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12837	0.008;0.008;0.008	T	0.46978	-0.9152	9	0.20046	T	0.44	.	1.8888	0.03243	0.4205:0.2564:0.0751:0.2479	rs36115950	96;96;96	B7ZVX9;Q9P2N4-2;Q9P2N4	.;.;ATS9_HUMAN	T	96	ENSP00000295903:S96T;ENSP00000418735:S96T;ENSP00000419217:S96T	ENSP00000295903:S96T	S	-	1	0	ADAMTS9	64647514	0.961000	0.32948	0.975000	0.42487	0.966000	0.64601	-0.265000	0.08644	-0.010000	0.14271	0.402000	0.26972	TCC	A|0.886;T|0.114	0.114	strong		0.562	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64672474	A	T	64672474	3	4	22	1	0	0	0	0	1	0	0	0	273	304	11	5	5673	5	ADAMTS9	3	64672474	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6120145	64672474	133349956	2125	7233										
SLC25A26	115286	hgsc.bcm.edu	37	chr3	66293688	66293688	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcatgctgattcatcttcAtatttgacacctatgaaaca	5	9	3	3	rs3772197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:66293688A>G	ENST00000354883.6	+	4	980	c.252A>G	c.(250-252)tcA>tcG	p.S84S	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_5'UTR|SLC25A26_ENST00000413054.1_5'UTR			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	84					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)	p.S84S(1)		endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ATTCATCTTCATATTTGACAC	0.343													A|||	287	0.0573083	0.0295	0.0548	5008	,	,		15466	0.0377		0.0746	False		,,,				2504	0.0992				p.S84S		Atlas-SNP	.											SLC25A26,NS,carcinoma,0,1	SLC25A26	12	1	1	Substitution - coding silent(1)	stomach(1)	c.A252G						PASS	.	A	,	181,4225	116.7+/-154.6	5,171,2027	160	159	159		,252	-9.6	0.1	3	dbSNP_107	159	619,7981	161.0+/-214.0	15,589,3696	no	utr-5,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	20,760,5723	GG,GA,AA		7.1977,4.108,6.151	,	,84/275	66293688	800,12206	2203	4300	6503	SO:0001819	synonymous_variant	115286	exon4			ATCTTCATATTTG	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"Solute carriers"	20661	protein-coding gene	gene with protein product		611037	"solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000354883.6:c.252A>G	3.37:g.66293688A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_173471	A8K758|B3KRZ7|Q7Z786|Q96E68	Silent	SNP	ENST00000354883.6	37	CCDS2905.2	138	0.06318681318681318	23	0.046747967479674794	33	0.09116022099447514	30	0.05244755244755245	52	0.06860158311345646	A	5.590	0.293637	0.10567	0.04108	0.071977	ENSG00000144741	ENST00000413054	.	.	.	5.67	-9.63	0.00544	.	.	.	.	.	T	0.00580	0.0019	.	.	.	0.09310	P	0.9999999999221516	.	.	.	.	.	.	T	0.15867	-1.0422	3	.	.	.	-28.0729	4.8763	0.13658	0.1925:0.3735:0.3461:0.0879	rs3772197;rs17823209;rs56630729;rs3772197	.	.	.	R	21	.	.	H	+	2	0	SLC25A26	66376379	0.000000	0.05858	0.121000	0.21740	0.526000	0.34562	-1.203000	0.03019	-0.938000	0.03714	-0.441000	0.05720	CAT	A|0.941;G|0.059	0.059	strong		0.343	SLC25A26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313894.2	NM_173471		G	66293688	A	G	66293688	2	3	22	1	0	0	0	0	0	0	0	1	14489	204	8	2		2	SLC25A26	3	66293688	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1621214	66293688	131728742	2126	7234										
LRIG1	26018	hgsc.bcm.edu	37	chr3	66431280	66431280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcatacgacccggccacCgtgttctgaaggacagcgcc	11	15	1	1	rs9877201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:66431280C>T	ENST00000273261.3	-	18	3300	c.2776G>A	c.(2776-2778)Ggt>Agt	p.G926S	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.G903S	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	926			G -> S (in dbSNP:rs9877201).		innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACCCGGCCACCGTGTTCTGAA	0.597													C|||	554	0.110623	0.3873	0.0346	5008	,	,		18811	0.0		0.0179	False		,,,				2504	0.0				p.G926S		Atlas-SNP	.											LRIG1,NS,carcinoma,0,1	LRIG1	138	1	0			c.G2776A						PASS	.	C	SER/GLY	1492,2914	473.5+/-356.7	259,974,970	49	52	51		2776	-3.4	0	3	dbSNP_119	51	84,8516	48.9+/-108.6	1,82,4217	yes	missense	LRIG1	NM_015541.2	56	260,1056,5187	TT,TC,CC		0.9767,33.8629,12.1175	benign	926/1094	66431280	1576,11430	2203	4300	6503	SO:0001583	missense	26018	exon18			GGCCACCGTGTTC	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2776G>A	3.37:g.66431280C>T	ENSP00000273261:p.Gly926Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	36	0.423529	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	210	0.09615384615384616	187	0.3800813008130081	8	0.022099447513812154	0	0.0	15	0.01978891820580475	C	10.82	1.457361	0.26161	0.338629	0.009767	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.69040	-0.18;-0.37	5.34	-3.41	0.04839	.	0.402609	0.28016	N	0.016939	T	0.00012	0.0000	N	0.02315	-0.6	0.80722	P	0.0	B;B;B	0.24651	0.012;0.108;0.007	B;B;B	0.15870	0.014;0.014;0.002	T	0.38908	-0.9639	9	0.18710	T	0.47	.	8.9885	0.36008	0.145:0.5962:0.0:0.2587	rs9877201;rs52813156;rs59347115;rs9877201	903;926;926	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	S	926;903;829	ENSP00000273261:G926S;ENSP00000373208:G903S	ENSP00000273261:G926S	G	-	1	0	LRIG1	66513970	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.284000	0.08422	-0.442000	0.07190	-0.794000	0.03295	GGT	C|0.879;T|0.121	0.121	strong		0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66431280	C	T	66431280	3	4	22	1	0	0	0	0	1	0	0	0	8944	652	23	1	513	1	LRIG1	3	66431280	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	137592	66431280	131591150	2127	7235										
LRIG1	26018	hgsc.bcm.edu	37	chr3	66433458	66433458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctggtctggtagatgatGcacacccagaccagtgacgt	11	11	1	4	rs34042409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:66433458G>A	ENST00000273261.3	-	15	2963	c.2439C>T	c.(2437-2439)tgC>tgT	p.C813C	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Silent_p.C790C	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	813					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTAGATGATGCACACCCAGA	0.577													G|||	261	0.0521166	0.1906	0.013	5008	,	,		19695	0.0		0.0	False		,,,				2504	0.0				p.C813C		Atlas-SNP	.											.	LRIG1	138	.	0			c.C2439T						PASS	.	G		705,3701	294.7+/-283.3	56,593,1554	115	90	99		2439	5.9	1	3	dbSNP_126	99	7,8593	5.7+/-21.5	0,7,4293	yes	coding-synonymous	LRIG1	NM_015541.2		56,600,5847	AA,AG,GG		0.0814,16.0009,5.4744		813/1094	66433458	712,12294	2203	4300	6503	SO:0001819	synonymous_variant	26018	exon15			GATGATGCACACC	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2439C>T	3.37:g.66433458G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																			G|0.941;A|0.059	0.059	strong		0.577	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		A	66433458	G	A	66433458	2	1	22	1	0	0	0	0	0	0	0	1	8944	1311	46	2		2	LRIG1	3	66433458	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2178	66433458	131588972	2128	7236										
LRIG1	26018	hgsc.bcm.edu	37	chr3	66434643	66434643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacattcgaggcgggccaTggtggtggtccggatggtta	17	8	0	0	rs2306272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:66434643T>C	ENST00000273261.3	-	14	2367	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.M639V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	615	Ig-like C2-type 2.		M -> V (in dbSNP:rs2306272). {ECO:0000269|PubMed:11414704, ECO:0000269|PubMed:17974005}.		innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGGGCCATGGTGGTGGTC	0.577													T|||	1814	0.36222	0.1513	0.2435	5008	,	,		17527	0.7341		0.2922	False		,,,				2504	0.4202				p.M615V		Atlas-SNP	.											.	LRIG1	138	.	0			c.A1843G						PASS	.	T	VAL/MET	637,3769	274.6+/-272.0	45,547,1611	192	184	186		1843	5	1	3	dbSNP_100	186	2358,6242	394.7+/-344.8	337,1684,2279	yes	missense	LRIG1	NM_015541.2	21	382,2231,3890	CC,CT,TT		27.4186,14.4576,23.0278	benign	615/1094	66434643	2995,10011	2203	4300	6503	SO:0001583	missense	26018	exon14			GGGCCATGGTGGT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1843A>G	3.37:g.66434643T>C	ENSP00000273261:p.Met615Val	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	337	159	0.47181	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	830	0.38003663003663	82	0.16666666666666666	106	0.292817679558011	418	0.7307692307692307	224	0.2955145118733509	T	8.389	0.839336	0.16891	0.144576	0.274186	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.65916	1.06;-0.18	6.17	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.379169	0.31936	N	0.006822	T	0.00012	0.0000	N	0.05467	-0.045	0.34993	P	0.24476699999999996	B;B	0.13145	0.006;0.007	B;B	0.19666	0.015;0.026	T	0.37596	-0.9699	9	0.27082	T	0.32	.	12.8497	0.57850	0.1223:0.0:0.0:0.8776	rs2306272;rs52808080;rs59543444;rs2306272	639;615	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	615;639;518	ENSP00000273261:M615V;ENSP00000373208:M639V	ENSP00000273261:M615V	M	-	1	0	LRIG1	66517333	0.990000	0.36364	0.989000	0.46669	0.306000	0.27790	6.232000	0.72313	1.126000	0.42016	0.533000	0.62120	ATG	T|0.707;C|0.293	0.293	strong		0.577	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66434643	T	C	66434643	3	2	22	1	0	0	0	0	1	0	0	0	8944	1464	51	2	1462	2	LRIG1	3	66434643	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1185	66434643	131587787	2129	7237										
C3orf64	285203	hgsc.bcm.edu	37	chr3	69054341	69054341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagatagagattggttgcTctgcagtactgaagataacg	11	6	2	4	rs6781612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:69054341T>C	ENST00000383701.3	-	7	1207	c.465A>G	c.(463-465)agA>agG	p.R155R	EOGT_ENST00000295571.5_Silent_p.R155R|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.R54R	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	155					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GATTGGTTGCTCTGCAGTACT	0.353													T|||	1918	0.382987	0.2995	0.3804	5008	,	,		18700	0.5169		0.2873	False		,,,				2504	0.4581				p.R155R		Atlas-SNP	.											.	.	.	.	0			c.A465G						PASS	.	T		1341,3065	444.1+/-347.2	216,909,1078	124	124	124		465	3.7	1	3	dbSNP_116	124	2393,6207	398.5+/-346.1	349,1695,2256	no	coding-synonymous	C3orf64	NM_173654.1		565,2604,3334	CC,CT,TT		27.8256,30.4358,28.7098		155/444	69054341	3734,9272	2203	4300	6503	SO:0001819	synonymous_variant	285203	exon7			GGTTGCTCTGCAG	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.465A>G	3.37:g.69054341T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	59	23	0.38983	NM_173654	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37																																																																																				T|0.701;C|0.299	0.299	strong		0.353	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		C	69054341	T	C	69054341	2	2	22	1	0	0	0	0	0	0	0	1	2240	1548	54	3		3	C3orf64	3	69054341	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2619698	69054341	128968089	2130	7238										
FRMD4B	23150	hgsc.bcm.edu	37	chr3	69246129	69246129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttgatgagagaagagttAgcataccatgtttgcacaaa	10	6	0	4	rs78327349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:69246129A>G	ENST00000398540.3	-	13	1097	c.1014T>C	c.(1012-1014)gcT>gcC	p.A338A	FRMD4B_ENST00000542259.1_Silent_p.A284A|FRMD4B_ENST00000478263.1_5'UTR	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	338	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GAGAAGAGTTAGCATACCATG	0.398													A|||	161	0.0321486	0.0893	0.0144	5008	,	,		19072	0.0149		0.0089	False		,,,				2504	0.0092				p.A338A		Atlas-SNP	.											.	FRMD4B	90	.	0			c.T1014C						PASS	.	A		367,3437		20,327,1555	104	102	103		1014	-1.2	1	3	dbSNP_132	103	34,8204		0,34,4085	no	coding-synonymous	FRMD4B	NM_015123.1		20,361,5640	GG,GA,AA		0.4127,9.6477,3.33		338/1035	69246129	401,11641	1902	4119	6021	SO:0001819	synonymous_variant	23150	exon13			AGAGTTAGCATAC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1014T>C	3.37:g.69246129A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	136	73	0.536765	NM_015123	Q8TAI3	Silent	SNP	ENST00000398540.3	37	CCDS46863.1																																																																																			A|0.976;G|0.024	0.024	strong		0.398	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			G	69246129	A	G	69246129	2	3	22	1	0	0	0	0	0	0	0	1	6052	407	15	3		3	FRMD4B	3	69246129	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	191788	69246129	128776301	2131	7239										
FRMD4B	23150	hgsc.bcm.edu	37	chr3	69271032	69271032	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacagcttgacctcgagtGagacctttgattttcaaata	7	10	1	3	rs62254461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:69271032G>A	ENST00000398540.3	-	9	791	c.708C>T	c.(706-708)ctC>ctT	p.L236L	FRMD4B_ENST00000542259.1_Silent_p.L182L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	236	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GACCTCGAGTGAGACCTTTGA	0.358													G|||	198	0.0395367	0.0068	0.0663	5008	,	,		18997	0.001		0.1183	False		,,,				2504	0.0235				p.L236L		Atlas-SNP	.											.	FRMD4B	90	.	0			c.C708T						PASS	.	G		74,3708		0,74,1817	82	77	79		708	2.5	1	3	dbSNP_129	79	967,7249		63,841,3204	no	coding-synonymous	FRMD4B	NM_015123.1		63,915,5021	AA,AG,GG		11.7697,1.9566,8.6764		236/1035	69271032	1041,10957	1891	4108	5999	SO:0001819	synonymous_variant	23150	exon9			TCGAGTGAGACCT	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.708C>T	3.37:g.69271032G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_015123	Q8TAI3	Silent	SNP	ENST00000398540.3	37	CCDS46863.1																																																																																			G|0.928;A|0.072	0.072	strong		0.358	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			A	69271032	G	A	69271032	2	1	22	1	0	0	0	0	0	0	0	1	6052	1277	45	2		2	FRMD4B	3	69271032	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24903	69271032	128751398	2132	7240										
FRMD4B	23150	hgsc.bcm.edu	37	chr3	69299233	69299233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttgaagatggtttcgctCtctacttcgatttgcccctg	8	11	1	2	rs4361282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:69299233C>G	ENST00000398540.3	-	6	602	c.519G>C	c.(517-519)gaG>gaC	p.E173D	FRMD4B_ENST00000542259.1_Missense_Mutation_p.E119D	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGTTTCGCTCTCTACTTCGA	0.433													G|||	1237	0.247005	0.3457	0.2133	5008	,	,		18600	0.2649		0.2237	False		,,,				2504	0.1431				p.E173D		Atlas-SNP	.											.	FRMD4B	90	.	0			c.G519C						PASS	.	G	ASP/GLU	1174,2712		165,844,934	279	271	273		519	4.3	1	3	dbSNP_111	273	1816,6458		195,1426,2516	yes	missense	FRMD4B	NM_015123.1	45	360,2270,3450	GG,GC,CC		21.9483,30.211,24.5888	benign	173/1035	69299233	2990,9170	1943	4137	6080	SO:0001583	missense	23150	exon6			TTCGCTCTCTACT	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.519G>C	3.37:g.69299233C>G	ENSP00000381549:p.Glu173Asp	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	100	52	0.52	NM_015123	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	577	0.2641941391941392	176	0.35772357723577236	73	0.20165745856353592	143	0.25	185	0.24406332453825857	G	1.525	-0.545949	0.04024	0.30211	0.219483	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.33	4.33	0.51752	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.106811	0.64402	N	0.000007	T	0.00012	0.0000	N	0.11560	0.145	0.51233	P	8.60000000000305E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10474	-1.0628	9	0.02654	T	1	-15.1785	7.5424	0.27746	0.0:0.1412:0.5798:0.279	rs4361282;rs52807668;rs4361282	17;173	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	D	173;119;64;119;119	ENSP00000381549:E173D;ENSP00000437658:E119D;ENSP00000418962:E64D;ENSP00000418373:E119D;ENSP00000418023:E119D	ENSP00000381549:E173D	E	-	3	2	FRMD4B	69381923	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	1.131000	0.31406	1.400000	0.46741	-0.187000	0.12897	GAG	C|0.742;G|0.258	0.258	strong		0.433	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			G	69299233	C	G	69299233	3	3	22	1	0	0	0	0	1	0	0	0	6052	912	32	4	2657	4	FRMD4B	3	69299233	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28201	69299233	128723197	2133	7241										
PROK2	60675	hgsc.bcm.edu	37	chr3	71821933	71821933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgtaaacaggccaagcctGgcagacatgggcaagtgtga	13	10	0	2	rs60239864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:71821933G>T	ENST00000295619.3	-	4	340	c.332C>A	c.(331-333)cCa>cAa	p.P111Q	PROK2_ENST00000353065.3_Missense_Mutation_p.P90Q	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	111					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		GGCCAAGCCTGGCAGACATGG	0.408													G|||	33	0.00658946	0.0242	0.0014	5008	,	,		16471	0.0		0.0	False		,,,				2504	0.0				p.P111Q		Atlas-SNP	.											.	PROK2	13	.	0			c.C332A						PASS	.	G	GLN/PRO,GLN/PRO	86,4320	73.1+/-111.1	1,84,2118	79	85	83		332,269	5.8	1	3	dbSNP_129	83	0,8600		0,0,4300	yes	missense,missense	PROK2	NM_001126128.1,NM_021935.3	76,76	1,84,6418	TT,TG,GG		0.0,1.9519,0.6612	probably-damaging,probably-damaging	111/130,90/109	71821933	86,12920	2203	4300	6503	SO:0001583	missense	60675	exon4			AAGCCTGGCAGAC	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.332C>A	3.37:g.71821933G>T	ENSP00000295619:p.Pro111Gln	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	152	94	0.618421	NM_001126128	Q53Z79|Q6ISR0	Missense_Mutation	SNP	ENST00000295619.3	37	CCDS46868.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	27.9	4.873120	0.91664	0.019519	0.0	ENSG00000163421	ENST00000353065;ENST00000295619	T;T	0.72725	-0.68;-0.68	5.85	5.85	0.93711	Prokineticin domain (2);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.974	T	0.77600	-0.2527	10	0.51188	T	0.08	-11.9075	18.9291	0.92558	0.0:0.0:1.0:0.0	rs60239864	111;90	Q9HC23;Q6ISR0	PROK2_HUMAN;.	Q	90;111	ENSP00000295618:P90Q;ENSP00000295619:P111Q	ENSP00000295619:P111Q	P	-	2	0	PROK2	71904623	1.000000	0.71417	0.980000	0.43619	0.999000	0.98932	8.067000	0.89488	2.773000	0.95371	0.650000	0.86243	CCA	G|0.994;T|0.006	0.006	strong		0.408	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		T	71821933	G	T	71821933	3	4	22	1	0	0	0	0	1	0	0	0	12551	1348	47	4	61	4	PROK2	3	71821933	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2522700	71821933	126200497	2134	7242										
GXYLT2	727936	hgsc.bcm.edu	37	chr3	72971414	72971414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagaatctaccccatcacAttttctgttggaaaccctca	4	14	4	1	rs61741329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:72971414A>G	ENST00000389617.4	+	3	689	c.528A>G	c.(526-528)acA>acG	p.T176T		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	176					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACCCCATCACATTTTCTGTTG	0.448													A|||	177	0.0353435	0.1256	0.0159	5008	,	,		18993	0.0		0.0	False		,,,				2504	0.0				p.T176T		Atlas-SNP	.											.	GXYLT2	43	.	0			c.A528G						PASS	.	A		362,3352		19,324,1514	210	215	213		528	-2.9	1	3	dbSNP_129	213	4,8206		0,4,4101	no	coding-synonymous	GXYLT2	NM_001080393.1		19,328,5615	GG,GA,AA		0.0487,9.7469,3.0694		176/444	72971414	366,11558	1857	4105	5962	SO:0001819	synonymous_variant	727936	exon3			CATCACATTTTCT	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"Glycosyltransferase family 8 domain containing"	33383	protein-coding gene	gene with protein product		613322	"glycosyltransferase 8 domain containing 4"	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.528A>G	3.37:g.72971414A>G		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	131	60	0.458015	NM_001080393		Silent	SNP	ENST00000389617.4	37	CCDS46870.1																																																																																			A|0.976;G|0.024	0.024	strong		0.448	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		G	72971414	A	G	72971414	2	3	22	1	0	0	0	0	0	0	0	1	6904	204	8	2		2	GXYLT2	3	72971414	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1149481	72971414	125051016	2135	7243										
PDZRN3	23024	hgsc.bcm.edu	37	chr3	73453325	73453325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaagagatagggatccagCacgggtgggctgggagagga	20	6	0	2	rs2291463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:73453325C>T	ENST00000263666.4	-	4	1254	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V	PDZRN3_ENST00000466780.1_Silent_p.V37V|PDZRN3_ENST00000535920.1_Silent_p.V102V|PDZRN3_ENST00000479530.1_Silent_p.V97V|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Silent_p.V37V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	380					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGGATCCAGCACGGGTGGGC	0.478													C|||	3013	0.601637	0.4811	0.6297	5008	,	,		18193	0.8353		0.5567	False		,,,				2504	0.5501				p.V380V		Atlas-SNP	.											.	PDZRN3	196	.	0			c.G1140A						PASS	.	C		2203,2203	589.8+/-387.2	538,1127,538	126	110	116		1140	-0.8	0	3	dbSNP_100	116	4751,3849	610.4+/-395.7	1332,2087,881	no	coding-synonymous	PDZRN3	NM_015009.1		1870,3214,1419	TT,TC,CC		44.7558,50.0,46.5324		380/1067	73453325	6954,6052	2203	4300	6503	SO:0001819	synonymous_variant	23024	exon4			ATCCAGCACGGGT	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1140G>A	3.37:g.73453325C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	139	68	0.489209	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1																																																																																			C|0.427;T|0.573	0.573	strong		0.478	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		T	73453325	C	T	73453325	2	4	22	1	0	0	0	0	0	0	0	1	11709	697	25	2		2	PDZRN3	3	73453325	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481911	73453325	124569105	2136	7244										
ROBO2	6092	hgsc.bcm.edu	37	chr3	77614215	77614215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttattcatggtcagagcgaTcaacccccaaggtctcagtg	9	12	4	1	rs185792666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:77614215T>C	ENST00000461745.1	+	12	2693	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T	ROBO2_ENST00000487694.3_Missense_Mutation_p.I614T|ROBO2_ENST00000332191.8_Missense_Mutation_p.I598T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	598	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCAGAGCGATCAACCCCCAA	0.498													T|||	10	0.00199681	0.0	0.0086	5008	,	,		17327	0.0		0.004	False		,,,				2504	0.0				p.I598T		Atlas-SNP	.											.	ROBO2	527	.	0			c.T1793C						PASS	.	T	THR/ILE,THR/ILE	2,3978		0,2,1988	131	129	130		1841,1793	6	1	3		130	43,8283		0,43,4120	yes	missense,missense	ROBO2	NM_001128929.2,NM_002942.4	89,89	0,45,6108	CC,CT,TT		0.5165,0.0503,0.3657	possibly-damaging,possibly-damaging	614/1395,598/1379	77614215	45,12261	1990	4163	6153	SO:0001583	missense	6092	exon12			GAGCGATCAACCC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1793T>C	3.37:g.77614215T>C	ENSP00000417164:p.Ile598Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	82	44	0.536585	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	T	17.82	3.482426	0.63962	5.03E-4	0.005165	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57595	0.39;0.39;0.39	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000269	T	0.47135	0.1429	N	0.25890	0.77	0.39849	D	0.973215	P;P;B	0.35411	0.486;0.5;0.296	P;P;P	0.50825	0.651;0.588;0.651	T	0.51340	-0.8718	9	0.20519	T	0.43	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	614;598;598	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	T	614;614;618;598;598;319	ENSP00000417335:I614T;ENSP00000417164:I598T;ENSP00000327536:I598T	ENSP00000327536:I598T	I	+	2	0	ROBO2	77696905	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	5.141000	0.64814	2.304000	0.77564	0.528000	0.53228	ATC	T|0.996;C|0.004	0.004	strong		0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		C	77614215	T	C	77614215	3	2	22	1	0	0	0	0	1	0	0	0	13514	1435	50	2	1841	2	ROBO2	3	77614215	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4160890	77614215	120408215	2137	7245										
ROBO1	6091	hgsc.bcm.edu	37	chr3	78676701	78676701	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgctggtggcacgggacaTggcatttcttggtcatagct	13	9	2	0	rs116125749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:78676701T>C	ENST00000464233.1	-	26	3758	c.3645A>G	c.(3643-3645)ccA>ccG	p.P1215P	ROBO1_ENST00000436010.2_Silent_p.P1176P|ROBO1_ENST00000467549.1_Silent_p.P1115P|ROBO1_ENST00000495273.1_Silent_p.P1170P	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1215					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)		GCACGGGACATGGCATTTCTT	0.413													T|||	52	0.0103834	0.0371	0.0043	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0				p.P1215P		Atlas-SNP	.											.	ROBO1	833	.	0			c.A3645G						PASS	.	T	,,	114,3892		1,112,1890	59	70	67		3345,3645,3510	-1.6	1	3	dbSNP_132	67	1,8321		0,1,4160	no	coding-synonymous,coding-synonymous,coding-synonymous	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	1,113,6050	CC,CT,TT		0.012,2.8457,0.9328	,,	1115/1552,1215/1652,1170/1607	78676701	115,12213	2003	4161	6164	SO:0001819	synonymous_variant	6091	exon26			GGGACATGGCATT	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.3645A>G	3.37:g.78676701T>C		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	244	120	0.491803	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	T	5.980	0.364753	0.11296	0.028457	1.2E-4	ENSG00000169855	ENST00000472273	.	.	.	5.29	-1.6	0.08426	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17137	-1.0379	4	.	.	.	.	1.2302	0.01942	0.174:0.1782:0.1809:0.4669	.	.	.	.	R	142	.	.	H	-	2	0	ROBO1	78759391	0.944000	0.32072	0.963000	0.40424	0.670000	0.39368	0.033000	0.13754	-0.468000	0.06922	-1.447000	0.01057	CAT	T|0.991;C|0.009	0.009	strong		0.413	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		C	78676701	T	C	78676701	2	2	22	1	0	0	0	0	0	0	0	1	13513	1451	51	2		2	ROBO1	3	78676701	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1062486	78676701	119345729	2138	7246										
ROBO1	6091	hgsc.bcm.edu	37	chr3	79174619	79174619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctacctgtatagcccagCgaattgtcatcgttatcaga	7	11	3	1	rs139237706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:79174619C>T	ENST00000464233.1	-	3	272	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	53					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)		TATAGCCCAGCGAATTGTCAT	0.488													C|||	6	0.00119808	0.003	0.0014	5008	,	,		17914	0.0		0.0	False		,,,				2504	0.001				p.S53S		Atlas-SNP	.											.	ROBO1	833	.	0			c.G159A						PASS	.	C		11,3935		0,11,1962	139	134	135		159	5.4	1	3	dbSNP_134	135	0,8292		0,0,4146	no	coding-synonymous	ROBO1	NM_002941.3		0,11,6108	TT,TC,CC		0.0,0.2788,0.0899		53/1652	79174619	11,12227	1973	4146	6119	SO:0001819	synonymous_variant	6091	exon3			GCCCAGCGAATTG	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.159G>A	3.37:g.79174619C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	195	94	0.482051	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																			C|0.998;T|0.002	0.002	strong		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	79174619	C	T	79174619	2	4	22	1	0	0	0	0	0	0	0	1	13513	755	27	1		1	ROBO1	3	79174619	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	497918	79174619	118847811	2139	7247										
GBE1	2632	hgsc.bcm.edu	37	chr3	81586149	81586149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttgtagcgaagaaggtcGtcgtcagttaaatgaaactg	11	6	1	2	rs2229520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:81586149G>A	ENST00000429644.2	-	13	2359	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	GBE1_ENST00000489715.1_Silent_p.D531D	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	572					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAAGAAGGTCGTCGTCAGTTA	0.413									Glycogen Storage Disease, type IV				A|||	77	0.0153754	0.0552	0.0058	5008	,	,		16494	0.0		0.0	False		,,,				2504	0.0				p.D572D		Atlas-SNP	.											.	GBE1	111	.	0			c.C1716T						PASS	.	A		195,3489		3,189,1650	114	110	111		1716	0.1	1	3	dbSNP_98	111	2,8168		0,2,4083	no	coding-synonymous	GBE1	NM_000158.3		3,191,5733	AA,AG,GG		0.0245,5.2932,1.6619		572/703	81586149	197,11657	1842	4085	5927	SO:0001819	synonymous_variant	2632	exon13	Familial Cancer Database	Andersen Disease, Brancher deficiency	AAGGTCGTCGTCA		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1716C>T	3.37:g.81586149G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	127	49	0.385827	NM_000158	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			G|0.987;A|0.013	0.013	strong		0.413	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			A	81586149	G	A	81586149	2	1	22	1	0	0	0	0	0	0	0	1	6270	1136	40	1		1	GBE1	3	81586149	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2411530	81586149	116436281	2140	7248										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89498428	89498428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctatagcctaccgcaaGttcacgtcagccagcgatgt	10	12	2	0	rs1398197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:89498428G>A	ENST00000336596.2	+	14	2625	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K	EPHA3_ENST00000494014.1_Silent_p.K800K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTACCGCAAGTTCACGTCAG	0.443										TSP Lung(6;0.00050)			G|||	564	0.11262	0.2625	0.0879	5008	,	,		16928	0.0516		0.0457	False		,,,				2504	0.0593				p.K800K		Atlas-SNP	.											.	EPHA3	501	.	0			c.G2400A						PASS	.	G		999,3407	373.2+/-320.7	121,757,1325	231	216	221		2400	-2.4	1	3	dbSNP_88	221	502,8098	143.9+/-199.8	14,474,3812	no	coding-synonymous	EPHA3	NM_005233.5		135,1231,5137	AA,AG,GG		5.8372,22.6736,11.5408		800/984	89498428	1501,11505	2203	4300	6503	SO:0001819	synonymous_variant	2042	exon14			CCGCAAGTTCACG	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2400G>A	3.37:g.89498428G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	227	116	0.511013	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																			G|0.889;A|0.111	0.111	strong		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89498428	G	A	89498428	2	1	22	1	0	0	0	0	0	0	0	1	5168	1020	36	2		2	EPHA3	3	89498428	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7912279	89498428	108524002	2141	7249										
PROS1	5627	hgsc.bcm.edu	37	chr3	93624961	93624961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatccatcttcattgcatgGcagaggactacactggtctg	9	10	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:93624961G>A	ENST00000394236.3	-	5	689	c.373C>T	c.(373-375)Cca>Tca	p.P125S	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	125	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCATTGCATGGCAGAGGACTA	0.353																																					p.P125S		Atlas-SNP	.											PROS1,NS,carcinoma,0,1	PROS1	126	1	0			c.C373T						scavenged	.						113	116	115					3																	93624961		2203	4300	6503	SO:0001583	missense	5627	exon5			TGCATGGCAGAGG		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.373C>T	3.37:g.93624961G>A	ENSP00000377783:p.Pro125Ser	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	220	3	0.0136364	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313446	0.81358	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.95035	-3.59;-3.14	4.44	4.44	0.53790	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98459	1.0595	10	0.87932	D	0	.	17.2572	0.87060	0.0:0.0:1.0:0.0	.	125	P07225	PROS_HUMAN	S	125;157	ENSP00000377783:P125S;ENSP00000330021:P157S	ENSP00000330021:P157S	P	-	1	0	PROS1	95107651	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.098000	0.76974	2.314000	0.78098	0.484000	0.47621	CCA	.	.	none		0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		A	93624961	G	A	93624961	3	1	22	1	0	0	0	0	1	0	0	0	12558	1203	42	2	1701	2	PROS1	3	93624961	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4126533	93624961	104397469	2142	7250										
NSUN3	63899	hgsc.bcm.edu	37	chr3	93845062	93845062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgattgcacacaggtctgcaAttaaggccttacgtcctgga	10	10	1	1	rs61730354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:93845062A>G	ENST00000314622.4	+	6	962	c.751A>G	c.(751-753)Att>Gtt	p.I251V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	251							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGGTCTGCAATTAAGGCCTT	0.388													A|||	89	0.0177716	0.0537	0.0115	5008	,	,		18150	0.0		0.007	False		,,,				2504	0.0031				p.I251V		Atlas-SNP	.											.	NSUN3	33	.	0			c.A751G						PASS	.	A	VAL/ILE	193,4213	120.4+/-158.0	6,181,2016	52	49	50		751	3.3	1	3	dbSNP_129	50	93,8507	51.9+/-112.3	0,93,4207	yes	missense	NSUN3	NM_022072.3	29	6,274,6223	GG,GA,AA		1.0814,4.3804,2.199	benign	251/341	93845062	286,12720	2203	4300	6503	SO:0001583	missense	63899	exon6			TCTGCAATTAAGG	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.751A>G	3.37:g.93845062A>G	ENSP00000318986:p.Ile251Val	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	150	82	0.546667	NM_022072	Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	CCDS2927.1	25	0.011446886446886446	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	9.012	0.982684	0.18889	0.043804	0.010814	ENSG00000178694	ENST00000314622	T	0.25579	1.79	5.64	3.29	0.37713	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.121362	0.64402	D	0.000015	T	0.03136	0.0092	N	0.17723	0.515	0.35580	D	0.806204	B	0.21821	0.061	B	0.23574	0.047	T	0.16453	-1.0402	10	0.25751	T	0.34	-12.7984	7.4732	0.27361	0.6633:0.0:0.3367:0.0	rs61730354	251	Q9H649	NSUN3_HUMAN	V	251	ENSP00000318986:I251V	ENSP00000318986:I251V	I	+	1	0	NSUN3	95327752	0.993000	0.37304	1.000000	0.80357	0.720000	0.41350	0.754000	0.26390	0.964000	0.38108	0.377000	0.23210	ATT	A|0.982;G|0.018	0.018	strong		0.388	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		G	93845062	A	G	93845062	3	3	22	1	0	0	0	0	1	0	0	0	10679	101	4	2	773	2	NSUN3	3	93845062	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	220101	93845062	104177368	2143	7251										
CRYBG3	131544	hgsc.bcm.edu	37	chr3	97607290	97607290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgaaatcattacatccGcttcaaatggtaagcaaatt	6	7	2	1	rs13065340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97607290G>A	ENST00000182096.4	+	6	1615	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2465							carbohydrate binding (GO:0030246)	p.P517P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CATTACATCCGCTTCAAATGG	0.368													G|||	1024	0.204473	0.112	0.317	5008	,	,		17657	0.1637		0.2833	False		,,,				2504	0.2106				p.P2465P		Atlas-SNP	.											CRYBG3,NS,carcinoma,0,1	CRYBG3	86	1	1	Substitution - coding silent(1)	stomach(1)	c.G7395A						PASS	.	G		455,3197		26,403,1397	48	43	45		7395	-1.9	1	3	dbSNP_121	45	2341,5823		348,1645,2089	no	coding-synonymous	CRYBG3	XM_003118522.2		374,2048,3486	AA,AG,GG		28.6747,12.4589,23.6628		2465/2971	97607290	2796,9020	1826	4082	5908	SO:0001819	synonymous_variant	131544	exon9			ACATCCGCTTCAA			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1551G>A	3.37:g.97607290G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	122	59	0.483607	NM_153605	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37																																																																																				G|0.786;A|0.214	0.214	strong		0.368	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		A	97607290	G	A	97607290	2	1	22	1	0	0	0	0	0	0	0	1	3913	1074	38	1		1	CRYBG3	3	97607290	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3762228	97607290	100415140	2144	7252										
CRYBG3	131544	hgsc.bcm.edu	37	chr3	97660084	97660084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagggcaacatctgtgtgCatttctccctatagtggaaa	9	10	2	0	rs11544446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97660084C>T	ENST00000182096.4	+	17	2818	c.2754C>T	c.(2752-2754)tgC>tgT	p.C918C	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.C125C	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2866							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CATCTGTGTGCATTTCTCCCT	0.458													C|||	1008	0.201278	0.112	0.3098	5008	,	,		15472	0.1528		0.2823	False		,,,				2504	0.2117				p.C2866C		Atlas-SNP	.											.	CRYBG3	86	.	0			c.C8598T						PASS	.	C		466,3294		25,416,1439	125	118	120		8598	1.8	0.4	3	dbSNP_120	120	2328,5878		350,1628,2125	no	coding-synonymous	CRYBG3	XM_003118522.2		375,2044,3564	TT,TC,CC		28.3695,12.3936,23.3495		2866/2971	97660084	2794,9172	1880	4103	5983	SO:0001819	synonymous_variant	131544	exon20			TGTGTGCATTTCT			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2754C>T	3.37:g.97660084C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_153605	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37																																																																																				C|0.790;T|0.210	0.210	strong		0.458	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		T	97660084	C	T	97660084	2	4	22	1	0	0	0	0	0	0	0	1	3913	718	25	2		2	CRYBG3	3	97660084	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52794	97660084	100362346	2145	7253										
OR5H1	26341	hgsc.bcm.edu	37	chr3	97852229	97852229	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcaatcttaaaaaagaaaTctgataaaggtgtaaggaaa	8	4	2	2	rs9849637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97852229T>A	ENST00000354565.2	+	1	688	c.688T>A	c.(688-690)Tct>Act	p.S230T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	230			S -> T (in dbSNP:rs9849637).			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						AAAAAAGAAATCTGATAAAGG	0.378													T|||	1183	0.236222	0.466	0.0937	5008	,	,		18820	0.131		0.1571	False		,,,				2504	0.2168				p.S230T		Atlas-SNP	.											.	OR5H1	71	.	0			c.T688A						PASS	.	T	THR/SER	1830,2576	520.2+/-370.2	391,1048,764	78	86	83		688	3.6	0.2	3	dbSNP_119	83	1335,7263	259.9+/-283.0	97,1141,3061	yes	missense	OR5H1	NM_001005338.1	58	488,2189,3825	AA,AT,TT		15.5269,41.5343,24.3387	possibly-damaging	230/314	97852229	3165,9839	2203	4299	6502	SO:0001583	missense	26341	exon1			AAGAAATCTGATA	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.688T>A	3.37:g.97852229T>A	ENSP00000346575:p.Ser230Thr	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	289	288	0.99654	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	444	0.2032967032967033	220	0.44715447154471544	34	0.09392265193370165	66	0.11538461538461539	124	0.16358839050131926	T	9.373	1.071102	0.20147	0.415343	0.155269	ENSG00000231192	ENST00000354565	T	0.00325	8.1	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000293	T	0.00012	0.0000	M	0.84156	2.68	0.53688	P	2.5000000000052758E-5	D	0.89917	1.0	D	0.91635	0.999	T	0.30446	-0.9978	9	0.66056	D	0.02	.	10.1009	0.42504	0.0:0.0:0.0:1.0	rs9849637;rs52822700;rs9849637	230	A6NKK0	OR5H1_HUMAN	T	230	ENSP00000346575:S230T	ENSP00000346575:S230T	S	+	1	0	OR5H1	99334919	0.027000	0.19231	0.212000	0.23672	0.003000	0.03518	0.961000	0.29267	1.481000	0.48307	0.164000	0.16699	TCT	T|0.779;A|0.221	0.221	strong		0.378	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97852229	T	A	97852229	3	1	22	1	0	0	0	0	1	0	0	0	11159	1435	50	5	690	5	OR5H1	3	97852229	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	192145	97852229	100170201	2146	7254										
OR5H14	403273	hgsc.bcm.edu	37	chr3	97868523	97868523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatctctctctgaatgcaaGatacagttgttttcgtttgc	7	8	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97868523G>A	ENST00000437310.1	+	1	354	c.294G>A	c.(292-294)aaG>aaA	p.K98K	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAATGCAAGATACAGTTGT	0.383																																					p.K98K		Atlas-SNP	.											OR5H14,NS,carcinoma,0,1	OR5H14	56	1	0			c.G294A						scavenged	.						206	213	211					3																	97868523		2203	4299	6502	SO:0001819	synonymous_variant	403273	exon1			ATGCAAGATACAG		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.294G>A	3.37:g.97868523G>A		Somatic	506	0	0		WXS	Illumina HiSeq	Phase_I	508	7	0.0137795	NM_001005514	B9EH15	Silent	SNP	ENST00000437310.1	37	CCDS33798.1																																																																																			.	.	none		0.383	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			A	97868523	G	A	97868523	2	1	22	1	0	0	0	0	0	0	0	1	11160	933	33	2		2	OR5H14	3	97868523	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16294	97868523	100153907	2147	7255										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97887902	97887902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttggcaacaatggcatAtgatcgctatgtagccatat	8	9	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97887902A>G	ENST00000356526.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y120F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACAATGGCATATGATCGCTAT	0.378																																					p.Y120C		Atlas-SNP	.											OR5H15,NS,carcinoma,0,1	OR5H15	70	1	1	Substitution - Missense(1)	lung(1)	c.A359G						scavenged	.						85	86	85					3																	97887902		2203	4298	6501	SO:0001583	missense	403274	exon1			TGGCATATGATCG		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.359A>G	3.37:g.97887902A>G	ENSP00000373195:p.Tyr120Cys	Somatic	467	4	0.00856531		WXS	Illumina HiSeq	Phase_I	481	16	0.033264	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.696	0.129471	0.08981	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.01347	4.99	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.03348	0.0097	M	0.92122	3.275	0.23727	N	0.997002	P	0.36577	0.558	B	0.30782	0.12	T	0.22068	-1.0227	10	0.87932	D	0	.	8.4982	0.33141	1.0:0.0:0.0:0.0	.	120	A6NDH6	O5H15_HUMAN	C	120	ENSP00000373195:Y120C	ENSP00000373195:Y120C	Y	+	2	0	OR5H15	99370592	1.000000	0.71417	0.988000	0.46212	0.119000	0.20118	2.521000	0.45563	1.138000	0.42230	0.155000	0.16302	TAT	.	.	none		0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			G	97887902	A	G	97887902	3	3	22	1	0	0	0	0	1	0	0	0	11161	449	16	2	361	2	OR5H15	3	97887902	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19379	97887902	100134528	2148	7256										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97887970	97887970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccaatggactgtgcatcCggctattaatcttgtcatat	8	9	2	1	rs72933946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:97887970C>T	ENST00000356526.2	+	1	427	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACTGTGCATCCGGCTATTAAT	0.373																																					p.R143W		Atlas-SNP	.											OR5H15,NS,carcinoma,-2,1	OR5H15	70	1	0			c.C427T						scavenged	.						73	72	72					3																	97887970		2203	4297	6500	SO:0001583	missense	403274	exon1			TGCATCCGGCTAT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.427C>T	3.37:g.97887970C>T	ENSP00000373195:p.Arg143Trp	Somatic	509	3	0.00589391		WXS	Illumina HiSeq	Phase_I	514	16	0.0311284	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.344	0.063283	0.08388	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00130	8.69	2.48	-0.601	0.11638	GPCR, rhodopsin-like superfamily (1);	1.476590	0.04503	N	0.381661	T	0.00109	0.0003	L	0.34521	1.04	0.09310	N	1	B	0.18166	0.026	B	0.15870	0.014	T	0.19516	-1.0303	10	0.34782	T	0.22	.	3.5209	0.07741	0.0:0.4065:0.1978:0.3956	.	143	A6NDH6	O5H15_HUMAN	W	143	ENSP00000373195:R143W	ENSP00000373195:R143W	R	+	1	2	OR5H15	99370660	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.931000	0.01556	-0.339000	0.08401	-1.206000	0.01644	CGG	C|0.965;A|0.035	.	alt		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			T	97887970	C	T	97887970	3	4	22	1	0	0	0	0	1	0	0	0	11161	643	23	1	429	1	OR5H15	3	97887970	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68	97887970	100134460	2149	7257										
TOMM70A	9868	hgsc.bcm.edu	37	chr3	100084432	100084432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgttggtggttttaatccGtatttctttgcaacttctgt	8	6	2	0	rs277644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:100084432G>A	ENST00000284320.5	-	12	2251	c.1803C>T	c.(1801-1803)taC>taT	p.Y601Y		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	601					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GTTTTAATCCGTATTTCTTTG	0.438													G|||	1266	0.252796	0.3775	0.1988	5008	,	,		19620	0.5129		0.0398	False		,,,				2504	0.0736				p.Y601Y		Atlas-SNP	.											.	TOMM70A	65	.	0			c.C1803T						PASS	.	G		1359,3047	451.6+/-349.7	202,955,1046	184	180	182		1803	-7.2	0.4	3	dbSNP_79	182	417,8183	129.7+/-187.7	14,389,3897	no	coding-synonymous	TOMM70A	NM_014820.3		216,1344,4943	AA,AG,GG		4.8488,30.8443,13.6552		601/609	100084432	1776,11230	2203	4300	6503	SO:0001819	synonymous_variant	9868	exon12			TAATCCGTATTTC	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1803C>T	3.37:g.100084432G>A		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	229	105	0.458515	NM_014820	D3DN48	Silent	SNP	ENST00000284320.5	37	CCDS33807.1																																																																																			G|0.834;A|0.166	0.166	strong		0.438	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			A	100084432	G	A	100084432	2	1	22	1	0	0	0	0	0	0	0	1	16359	1140	40	1		1	TOMM70A	3	100084432	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2196462	100084432	97937998	2150	7258										
LNP1	348801	hgsc.bcm.edu	37	chr3	100170600	100170600	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattccatcatctgactgccAtcctagaaggcattctcatg	6	12	3	2	rs386663873|rs76354691|rs71132521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:100170600A>T	ENST00000383693.3	+	3	1474	c.194A>T	c.(193-195)cAt>cTt	p.H65L	LNP1_ENST00000489752.1_Missense_Mutation_p.H78L	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	65										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TCTGACTGCCATCCTAGAAGG	0.443																																					p.H65L		Atlas-SNP	.											.	LNP1	26	.	0			c.A194T						PASS	.						80	73	75					3																	100170600		1875	4103	5978	SO:0001583	missense	348801	exon3			ACTGCCATCCTAG		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.194A>T	3.37:g.100170600A>T	ENSP00000373191:p.His65Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	135	12	0.0888889	NM_001085451	B7ZLT3	Missense_Mutation	SNP	ENST00000383693.3	37	CCDS43120.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547645	0.45383	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	4.83	0.838	0.18902	.	0.744655	0.11980	N	0.510844	T	0.28366	0.0701	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23976	-1.0173	9	0.72032	D	0.01	-12.6805	7.7915	0.29123	0.4966:0.0:0.0:0.5034	.	65	A1A4G5	LNP1_HUMAN	L	65;78	.	ENSP00000373191:H65L	H	+	2	0	LNP1	101653290	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	1.079000	0.30766	-0.004000	0.14419	-0.691000	0.03719	CAT	A|0.818;T|0.182	0.182	strong		0.443	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			T	100170600	A	T	100170600	3	4	22	1	0	0	0	0	1	0	0	0	8863	217	8	5	200	5	LNP1	3	100170600	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86168	100170600	97851830	2151	7259										
LNP1	348801	hgsc.bcm.edu	37	chr3	100170634	100170634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcatgaggaccaagaattTcgatgccgtagccacgtacg	10	11	1	2	rs9848109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:100170634T>C	ENST00000383693.3	+	3	1508	c.228T>C	c.(226-228)ttT>ttC	p.F76F	LNP1_ENST00000489752.1_Silent_p.F89F	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	76										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ACCAAGAATTTCGATGCCGTA	0.433																																					p.F76F		Atlas-SNP	.											LNP1,caecum,carcinoma,0,2	LNP1	26	2	0			c.T228C						scavenged	.						98	90	92					3																	100170634		1871	4098	5969	SO:0001819	synonymous_variant	348801	exon3			AGAATTTCGATGC		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.228T>C	3.37:g.100170634T>C		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	118	18	0.152542	NM_001085451	B7ZLT3	Silent	SNP	ENST00000383693.3	37	CCDS43120.1																																																																																			T|0.500;C|0.500	0.500	strong		0.433	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			C	100170634	T	C	100170634	2	2	22	1	0	0	0	0	0	0	0	1	8863	1780	62	2		2	LNP1	3	100170634	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34	100170634	97851796	2152	7260										
LNP1	348801	hgsc.bcm.edu	37	chr3	100174722	100174722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagctctaggaaagaagaGcatggagaagcacacatggc	14	7	1	3	rs1132022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:100174722G>A	ENST00000383693.3	+	4	1769	c.489G>A	c.(487-489)gaG>gaA	p.E163E	LNP1_ENST00000489752.1_Silent_p.E176E	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	163										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAAAGAAGAGCATGGAGAAG	0.428													A|||	2426	0.484425	0.3759	0.4409	5008	,	,		19498	0.7222		0.4205	False		,,,				2504	0.4826				p.E163E		Atlas-SNP	.											.	LNP1	26	.	0			c.G489A						PASS	.	A		1324,2444		238,848,798	128	128	128		489	-7.3	0	3	dbSNP_86	128	3333,4897		687,1959,1469	no	coding-synonymous	LNP1	NM_001085451.1		925,2807,2267	AA,AG,GG		40.4982,35.138,38.8148		163/179	100174722	4657,7341	1884	4115	5999	SO:0001819	synonymous_variant	348801	exon4			AGAAGAGCATGGA		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.489G>A	3.37:g.100174722G>A		Somatic	366	1	0.00273224		WXS	Illumina HiSeq	Phase_I	431	222	0.515081	NM_001085451	B7ZLT3	Silent	SNP	ENST00000383693.3	37	CCDS43120.1																																																																																			G|0.515;A|0.485	0.485	strong		0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			A	100174722	G	A	100174722	2	1	22	1	0	0	0	0	0	0	0	1	8863	962	34	2		2	LNP1	3	100174722	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4088	100174722	97847708	2153	7261										
SENP7	57337	hgsc.bcm.edu	37	chr3	101090924	101090924	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttctttattgtgcgcagTctgctttgcagaattgtcat					rs116197973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:101090924T>A	ENST00000394095.2	-	7	777	c.724A>T	c.(724-726)Act>Tct	p.T242S	SENP7_ENST00000314261.7_Missense_Mutation_p.T176S|SENP7_ENST00000394091.1_Missense_Mutation_p.T78S|SENP7_ENST00000348610.3_Missense_Mutation_p.T209S|SENP7_ENST00000358203.3_Missense_Mutation_p.T78S|SENP7_ENST00000394094.2_Missense_Mutation_p.T177S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	242						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTGCGCAGTCTGCTTTGCA	0.368													C|||	50	0.00998403	0.0371	0.0014	5008	,	,		13274	0.0		0.0	False		,,,				2504	0.0				p.T242S		Atlas-SNP	.											.	SENP7	170	.	0			c.A724T						PASS	.	C	SER/THR,SER/THR	156,4250		4,148,2051	135	126	129		529,724	1.3	0	3	dbSNP_132	129	0,8600		0,0,4300	yes	missense,missense	SENP7	NM_001077203.1,NM_020654.3	58,58	4,148,6351	AA,AT,TT		0.0,3.5406,1.1994	benign,benign	177/986,242/1051	101090924	156,12850	2203	4300	6503	SO:0001583	missense	57337	exon7			GCGCAGTCTGCTT		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.724A>T	3.37:g.101090924T>A	ENSP00000377655:p.Thr242Ser	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	158	73	0.462025	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	3.708	-0.060054	0.07317	0.035406	0.0	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.16743	2.32;2.33;2.32;2.32;2.32;2.32	5.1	1.33	0.21861	.	1.879190	0.02560	N	0.096662	T	0.01940	0.0061	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.29792	-1.0000	10	0.32370	T	0.25	-0.178	7.9128	0.29800	0.0:0.565:0.0:0.435	.	78;176;209;242	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	S	242;177;176;78;78;209	ENSP00000377655:T242S;ENSP00000377654:T177S;ENSP00000313624:T176S;ENSP00000377651:T78S;ENSP00000350936:T78S;ENSP00000342159:T209S	ENSP00000313624:T176S	T	-	1	0	SENP7	102573614	0.029000	0.19370	0.027000	0.17364	0.001000	0.01503	-0.162000	0.10012	-0.170000	0.10816	-0.927000	0.02713	ACT	T|0.988;A|0.012	0.012	strong		0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101090924	T	A	101090924	3	1	22	1	0	0	0	0	1	0	0	0	14051	1667	58	5	2500	5	SENP7	3	101090924	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	916202	101090924	96931506	2154	7262	142	2								
SENP7	57337	hgsc.bcm.edu	37	chr3	101090925	101090925	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttctttattgtgcgcagtCtgctttgcagaattgtcatc					rs115061809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:101090925C>A	ENST00000394095.2	-	7	776	c.723G>T	c.(721-723)caG>caT	p.Q241H	SENP7_ENST00000314261.7_Missense_Mutation_p.Q175H|SENP7_ENST00000394091.1_Missense_Mutation_p.Q77H|SENP7_ENST00000348610.3_Missense_Mutation_p.Q208H|SENP7_ENST00000358203.3_Missense_Mutation_p.Q77H|SENP7_ENST00000394094.2_Missense_Mutation_p.Q176H	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	241						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGCGCAGTCTGCTTTGCAG	0.368													C|||	50	0.00998403	0.0371	0.0014	5008	,	,		13309	0.0		0.0	False		,,,				2504	0.0				p.Q241H		Atlas-SNP	.											.	SENP7	170	.	0			c.G723T						PASS	.	C	HIS/GLN,HIS/GLN	156,4250	103.8+/-142.4	4,148,2051	135	127	129		528,723	1.7	0.2	3	dbSNP_132	129	0,8600		0,0,4300	yes	missense,missense	SENP7	NM_001077203.1,NM_020654.3	24,24	4,148,6351	AA,AC,CC		0.0,3.5406,1.1994	possibly-damaging,possibly-damaging	176/986,241/1051	101090925	156,12850	2203	4300	6503	SO:0001583	missense	57337	exon7			CGCAGTCTGCTTT		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.723G>T	3.37:g.101090925C>A	ENSP00000377655:p.Gln241His	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	156	72	0.461538	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	10.27	1.303827	0.23736	0.035406	0.0	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20069	2.12;2.1;2.15;2.11;2.11;2.13	5.1	1.66	0.24008	.	0.601428	0.14885	N	0.292719	T	0.05273	0.0140	L	0.54323	1.7	0.09310	N	1	P;P;P;P	0.48503	0.911;0.846;0.797;0.694	P;P;P;B	0.47470	0.465;0.465;0.548;0.346	T	0.08743	-1.0707	10	0.87932	D	0	-0.6991	2.926	0.05784	0.2106:0.529:0.0:0.2604	.	77;175;208;241	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	H	241;176;175;77;77;208	ENSP00000377655:Q241H;ENSP00000377654:Q176H;ENSP00000313624:Q175H;ENSP00000377651:Q77H;ENSP00000350936:Q77H;ENSP00000342159:Q208H	ENSP00000313624:Q175H	Q	-	3	2	SENP7	102573615	0.220000	0.23631	0.175000	0.22980	0.007000	0.05969	0.278000	0.18753	0.606000	0.29965	0.585000	0.79938	CAG	C|0.988;A|0.012	0.012	strong		0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101090925	C	A	101090925	3	1	22	1	0	0	0	0	1	0	0	0	14051	912	32	4	2501	4	SENP7	3	101090925	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	101090925	96931505	2155	7263	142	2								
SENP7	57337	hgsc.bcm.edu	37	chr3	101177848	101177848	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaccctcggatatgtttttTatttttatggtctagagaga	8	6	1	2	rs6809436|rs386663936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:101177848T>G	ENST00000394095.2	-	4	288	c.235A>C	c.(235-237)Aaa>Caa	p.K79Q	SENP7_ENST00000314261.7_Missense_Mutation_p.K79Q|Y_RNA_ENST00000364684.1_RNA|SENP7_ENST00000394094.2_Missense_Mutation_p.K79Q|SENP7_ENST00000358203.3_Missense_Mutation_p.K46Q|SENP7_ENST00000348610.3_Missense_Mutation_p.K46Q|SENP7_ENST00000394091.1_Missense_Mutation_p.K46Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	79			K -> Q (in dbSNP:rs6809436).			intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATATGTTTTTTATTTTTATGG	0.338													T|||	357	0.0712859	0.146	0.0591	5008	,	,		16527	0.0		0.0845	False		,,,				2504	0.0389				p.K79Q		Atlas-SNP	.											.	SENP7	170	.	0			c.A235C						PASS	.	T	GLN/LYS,GLN/LYS	625,3781	269.8+/-269.2	50,525,1628	222	215	218		235,235	2.3	0.1	3	dbSNP_116	218	701,7899	173.2+/-223.7	20,661,3619	yes	missense,missense	SENP7	NM_001077203.1,NM_020654.3	53,53	70,1186,5247	GG,GT,TT		8.1512,14.1852,10.1953	benign,benign	79/986,79/1051	101177848	1326,11680	2203	4300	6503	SO:0001583	missense	57337	exon4			GTTTTTTATTTTT		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.235A>C	3.37:g.101177848T>G	ENSP00000377655:p.Lys79Gln	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	125	68	0.544	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	161	0.07371794871794872	80	0.16260162601626016	21	0.058011049723756904	0	0.0	60	0.079155672823219	T	13.43	2.234760	0.39498	0.141852	0.081512	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.41758	1.97;1.97;0.99;1.84;1.84;1.98	4.78	2.28	0.28536	.	0.250311	0.27495	N	0.019104	T	0.00109	0.0003	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B	0.30281	0.033;0.033;0.275;0.019	B;B;B;B	0.28232	0.022;0.022;0.087;0.01	T	0.08973	-1.0696	9	0.72032	D	0.01	-0.4982	9.0229	0.36211	0.0:0.0:0.3622:0.6378	rs6809436;rs52800936;rs57603507;rs6809436	46;79;46;79	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Q	79;79;79;46;46;46	ENSP00000377655:K79Q;ENSP00000377654:K79Q;ENSP00000313624:K79Q;ENSP00000377651:K46Q;ENSP00000350936:K46Q;ENSP00000342159:K46Q	ENSP00000313624:K79Q	K	-	1	0	SENP7	102660538	1.000000	0.71417	0.051000	0.19133	0.487000	0.33371	1.220000	0.32491	0.290000	0.22444	0.533000	0.62120	AAA	T|0.902;G|0.098	0.098	strong		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		G	101177848	T	G	101177848	3	3	22	1	0	0	0	0	1	0	0	0	14051	1763	61	5	3001	5	SENP7	3	101177848	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86923	101177848	96844582	2156	7264										
PCNP	57092	hgsc.bcm.edu	37	chr3	101293097	101293097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggagacgagaagcctgaaaAgtcgcagcgagctggagccg	17	9	0	3	rs116752753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:101293097A>G	ENST00000265260.3	+	1	159	c.38A>G	c.(37-39)aAg>aGg	p.K13R	PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000469941.1_5'UTR|PCNP_ENST00000296024.5_Missense_Mutation_p.K13R	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	13					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						AAGCCTGAAAAGTCGCAGCGA	0.677													A|||	49	0.00978435	0.0363	0.0014	5008	,	,		12760	0.0		0.0	False		,,,				2504	0.0				p.K13R		Atlas-SNP	.											.	PCNP	8	.	0			c.A38G						PASS	.	A	ARG/LYS	87,3257		0,87,1585	23	27	26		38	2.6	0.9	3	dbSNP_132	26	1,6167		0,1,3083	yes	missense	PCNP	NM_020357.1	26	0,88,4668	GG,GA,AA		0.0162,2.6017,0.9251	benign	13/179	101293097	88,9424	1672	3084	4756	SO:0001583	missense	57092	exon1			CTGAAAAGTCGCA		CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.38A>G	3.37:g.101293097A>G	ENSP00000265260:p.Lys13Arg	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	210	114	0.542857	NM_020357	B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	ENST00000265260.3	37	CCDS2942.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	A	15.73	2.921230	0.52653	0.026017	1.62E-4	ENSG00000081154	ENST00000265260;ENST00000296024	.	.	.	5.08	2.59	0.31030	.	2.264980	0.01941	N	0.041900	T	0.06735	0.0172	N	0.08118	0	0.27175	N	0.960801	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14868	-1.0457	9	0.27785	T	0.31	.	1.8535	0.03174	0.5685:0.1752:0.0887:0.1676	.	13;13	Q8WW12-2;Q8WW12	.;PCNP_HUMAN	R	13	.	ENSP00000265260:K13R	K	+	2	0	PCNP	102775787	1.000000	0.71417	0.891000	0.34965	0.933000	0.57130	1.646000	0.37249	0.366000	0.24427	-0.336000	0.08194	AAG	A|0.993;G|0.007	0.007	strong		0.677	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353338.2	NM_020357		G	101293097	A	G	101293097	3	3	22	1	0	0	0	0	1	0	0	0	11589	72	3	3	40	3	PCNP	3	101293097	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	115249	101293097	96729333	2157	7265										
ZBTB11	27107	hgsc.bcm.edu	37	chr3	101370091	101370091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatagcttctgtccttgCtgttgtgctaatacataatt	7	8	2	1	rs34525894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:101370091C>T	ENST00000312938.4	-	11	3661	c.3081G>A	c.(3079-3081)caG>caA	p.Q1027Q		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1027					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGTCCTTGCTGTTGTGCTA	0.378													C|||	258	0.0515176	0.1891	0.0115	5008	,	,		24052	0.0		0.0	False		,,,				2504	0.0				p.Q1027Q		Atlas-SNP	.											.	ZBTB11	77	.	0			c.G3081A						PASS	.	C		757,3649	309.7+/-291.2	72,613,1518	132	129	130		3081	5.4	1	3	dbSNP_126	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZBTB11	NM_014415.3		72,615,5816	TT,TC,CC		0.0233,17.1811,5.8358		1027/1054	101370091	759,12247	2203	4300	6503	SO:0001819	synonymous_variant	27107	exon11			TCCTTGCTGTTGT	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3081G>A	3.37:g.101370091C>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	221	95	0.429864	NM_014415	Q2NKP9	Silent	SNP	ENST00000312938.4	37	CCDS2943.1																																																																																			C|0.948;T|0.052	0.052	strong		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		T	101370091	C	T	101370091	2	4	22	1	0	0	0	0	0	0	0	1	17521	796	28	2		2	ZBTB11	3	101370091	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76994	101370091	96652339	2158	7266										
ALCAM	214	hgsc.bcm.edu	37	chr3	105260518	105260518	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcaaatacttacacactGacggatgtgaggcgcaatgc	10	10	1	2	rs579565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:105260518G>A	ENST00000306107.5	+	8	1400	c.900G>A	c.(898-900)ctG>ctA	p.L300L	ALCAM_ENST00000472644.2_Silent_p.L300L|ALCAM_ENST00000486979.2_Silent_p.L249L|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	300	Ig-like C2-type 1.				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						CTTACACACTGACGGATGTGA	0.423													G|||	1186	0.236821	0.3041	0.3084	5008	,	,		19891	0.1548		0.2366	False		,,,				2504	0.18				p.L300L		Atlas-SNP	.											.	ALCAM	71	.	0			c.G900A						PASS	.	G		1260,3146	428.7+/-342.0	184,892,1127	163	131	142		900	5.3	1	3	dbSNP_83	142	1903,6697	335.4+/-321.4	219,1465,2616	no	coding-synonymous	ALCAM	NM_001627.3		403,2357,3743	AA,AG,GG		22.1279,28.5974,24.3195		300/584	105260518	3163,9843	2203	4300	6503	SO:0001819	synonymous_variant	214	exon8			CACACTGACGGAT	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.900G>A	3.37:g.105260518G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_001627	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	CCDS33810.1																																																																																			G|0.759;A|0.241	0.241	strong		0.423	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		A	105260518	G	A	105260518	2	1	22	1	0	0	0	0	0	0	0	1	487	1277	45	2		2	ALCAM	3	105260518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3890427	105260518	92761912	2159	7267										
CCDC54	84692	hgsc.bcm.edu	37	chr3	107096547	107096547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaccacaaatgtaagattcGgcaccaagattcaactggat	7	9	1	2	rs709564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:107096547G>A	ENST00000261058.1	+	1	360	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	38			R -> Q (in dbSNP:rs709564). {ECO:0000269|PubMed:15489334}.							NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TGTAAGATTCGGCACCAAGAT	0.403													G|||	2500	0.499201	0.3442	0.5216	5008	,	,		21589	0.8919		0.2545	False		,,,				2504	0.5399				p.R38Q		Atlas-SNP	.											.	CCDC54	56	.	0			c.G113A						PASS	.	G	GLN/ARG	1442,2964	469.4+/-355.4	262,918,1023	138	138	138		113	-1	0	3	dbSNP_86	138	2032,6568	354.9+/-329.7	241,1550,2509	yes	missense	CCDC54	NM_032600.2	43	503,2468,3532	AA,AG,GG		23.6279,32.7281,26.7107	benign	38/329	107096547	3474,9532	2203	4300	6503	SO:0001583	missense	84692	exon1			AGATTCGGCACCA	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.113G>A	3.37:g.107096547G>A	ENSP00000261058:p.Arg38Gln	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	163	90	0.552147	NM_032600	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	1018	0.4661172161172161	154	0.3130081300813008	163	0.45027624309392267	507	0.8863636363636364	194	0.2559366754617414	G	0.008	-1.878422	0.00537	0.327281	0.236279	ENSG00000138483	ENST00000261058	T	0.41065	1.01	5.44	-1.05	0.10036	.	1.036590	0.07686	N	0.937852	T	0.00012	0.0000	N	0.05280	-0.08	0.80722	P	0.0	B	0.12630	0.006	B	0.08055	0.003	T	0.28618	-1.0038	9	0.11794	T	0.64	1.0994	8.8703	0.35311	0.515:0.0:0.485:0.0	rs709564;rs17845930;rs17858909;rs52834280;rs60910251;rs709564	38	Q8NEL0	CCD54_HUMAN	Q	38	ENSP00000261058:R38Q	ENSP00000261058:R38Q	R	+	2	0	CCDC54	108579237	0.000000	0.05858	0.045000	0.18777	0.112000	0.19704	-0.131000	0.10482	-0.180000	0.10637	-0.482000	0.04802	CGG	G|0.632;A|0.368	0.368	strong		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		A	107096547	G	A	107096547	3	1	22	1	0	0	0	0	1	0	0	0	2824	1116	39	1	115	1	CCDC54	3	107096547	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1836029	107096547	90925883	2160	7268										
HHLA2	11148	hgsc.bcm.edu	37	chr3	108072298	108072298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attccctttggctttcttcaTttatgttcctatgaatgaac	5	9	2	2	rs6779254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108072298T>C	ENST00000357759.5	+	4	503	c.89T>C	c.(88-90)aTt>aCt	p.I30T	HHLA2_ENST00000467761.1_Missense_Mutation_p.I30T|HHLA2_ENST00000489514.2_Missense_Mutation_p.I30T|HHLA2_ENST00000491820.1_Missense_Mutation_p.I30T|HHLA2_ENST00000467562.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	30			I -> T (in dbSNP:rs6779254).		positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GCTTTCTTCATTTATGTTCCT	0.388													C|||	2957	0.590455	0.7867	0.5965	5008	,	,		21742	0.2093		0.6839	False		,,,				2504	0.6176				p.I30T		Atlas-SNP	.											.	HHLA2	95	.	0			c.T89C						PASS	.	C	THR/ILE	2852,874		1095,662,106	27	25	26		89	-7.7	0	3	dbSNP_116	26	5532,2642		1862,1808,417	yes	missense	HHLA2	NM_007072.2	89	2957,2470,523	CC,CT,TT		32.322,23.4568,29.5462	possibly-damaging	30/415	108072298	8384,3516	1863	4087	5950	SO:0001583	missense	11148	exon4			TCTTCATTTATGT	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.89T>C	3.37:g.108072298T>C	ENSP00000350402:p.Ile30Thr	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	CCDS46883.1	1221	0.5590659340659341	379	0.7703252032520326	233	0.643646408839779	99	0.17307692307692307	510	0.6728232189973615	C	0.745	-0.775062	0.02951	0.765432	0.67678	ENSG00000114455	ENST00000463019;ENST00000491820;ENST00000482430;ENST00000462629;ENST00000357759;ENST00000467761;ENST00000489514	T;T;T;T;T;T;T	0.43294	2.53;5.01;2.53;0.95;5.01;5.01;5.01	5.38	-7.67	0.01272	.	2.455510	0.02244	N	0.066036	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38714	-0.9648	9	0.52906	T	0.07	7.4029	1.5999	0.02672	0.4293:0.1699:0.2333:0.1675	rs6779254;rs17182503;rs60107127;rs6779254	30;30	C9J7D0;Q9UM44	.;HHLA2_HUMAN	T	30	ENSP00000419940:I30T;ENSP00000418284:I30T;ENSP00000418174:I30T;ENSP00000419911:I30T;ENSP00000350402:I30T;ENSP00000419207:I30T;ENSP00000417856:I30T	ENSP00000350402:I30T	I	+	2	0	HHLA2	109554988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.268000	0.01169	-1.645000	0.01515	-1.779000	0.00650	ATT	T|0.430;C|0.570	0.570	strong		0.388	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		C	108072298	T	C	108072298	3	2	22	1	0	0	0	0	1	0	0	0	7095	1493	52	2	95	2	HHLA2	3	108072298	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	975751	108072298	89950132	2161	7269										
HHLA2	11148	hgsc.bcm.edu	37	chr3	108081217	108081217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaaacagcttcccataaCaaaggcttatggattttggt	8	8	0	1	rs3792332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108081217C>A	ENST00000357759.5	+	7	1446	c.1032C>A	c.(1030-1032)aaC>aaA	p.N344K	HHLA2_ENST00000467761.1_Missense_Mutation_p.N344K|HHLA2_ENST00000491820.1_Missense_Mutation_p.N344K|HHLA2_ENST00000489514.2_Missense_Mutation_p.N344K|HHLA2_ENST00000467562.1_Missense_Mutation_p.N280K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	344			N -> K (in dbSNP:rs3792332).		positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTTCCCATAACAAAGGCTTAT	0.413													C|||	536	0.107029	0.1672	0.0735	5008	,	,		17654	0.1399		0.0417	False		,,,				2504	0.0828				p.N344K		Atlas-SNP	.											.	HHLA2	95	.	0			c.C1032A						PASS	.	C	LYS/ASN	503,3147		33,437,1355	114	101	105		1032	-1.6	0	3	dbSNP_107	105	340,7840		7,326,3757	yes	missense	HHLA2	NM_007072.2	94	40,763,5112	AA,AC,CC		4.1565,13.7808,7.126	benign	344/415	108081217	843,10987	1825	4090	5915	SO:0001583	missense	11148	exon7			CCATAACAAAGGC	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1032C>A	3.37:g.108081217C>A	ENSP00000350402:p.Asn344Lys	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	CCDS46883.1	218|218	0.09981684981684982|0.09981684981684982	79|79	0.16056910569105692|0.16056910569105692	32|32	0.08839779005524862|0.08839779005524862	76|76	0.13286713286713286|0.13286713286713286	31|31	0.040897097625329816|0.040897097625329816	C|C	6.108|6.108	0.388214|0.388214	0.11581|0.11581	0.137808|0.137808	0.041565|0.041565	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.09817|.	5.12;2.94;5.08;5.08;5.08|.	1.58|1.58	-1.56|-1.56	0.08532|0.08532	.|.	.|.	.|.	.|.	.|.	T|T	0.00073|0.00073	0.0002|0.0002	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.001|.	T|T	0.26883|0.26883	-1.0090|-1.0090	8|4	0.66056|.	D|.	0.02|.	.|.	1.7016|1.7016	0.02873|0.02873	0.343:0.3055:0.0:0.3515|0.343:0.3055:0.0:0.3515	rs3792332;rs52801242;rs3792332|rs3792332;rs52801242;rs3792332	280;344;344|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	K|K	344;280;344;344;344|247	ENSP00000418284:N344K;ENSP00000418345:N280K;ENSP00000350402:N344K;ENSP00000419207:N344K;ENSP00000417856:N344K|.	ENSP00000350402:N344K|.	N|Q	+|+	3|1	2|0	HHLA2|HHLA2	109563907|109563907	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.403000|0.403000	0.20982|0.20982	-0.452000|-0.452000	0.07087|0.07087	0.655000|0.655000	0.94253|0.94253	AAC|CAA	C|0.902;A|0.098	0.098	strong		0.413	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		A	108081217	C	A	108081217	3	1	22	1	0	0	0	0	1	0	0	0	7095	477	17	4	1050	4	HHLA2	3	108081217	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8919	108081217	89941213	2162	7270										
MYH15	22989	hgsc.bcm.edu	37	chr3	108147543	108147543	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcttccatgtctcggtgCagcttctggaatttggtttc	10	11	3	0	rs61745179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108147543C>A	ENST00000273353.3	-	28	3614	c.3558G>T	c.(3556-3558)ctG>ctT	p.L1186L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1186						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGTCTCGGTGCAGCTTCTGGA	0.507													C|||	262	0.0523163	0.0696	0.0504	5008	,	,		18064	0.0		0.0915	False		,,,				2504	0.044				p.L1186L		Atlas-SNP	.											.	MYH15	223	.	0			c.G3558T						PASS	.	C		240,3694		4,232,1731	138	134	135		3558	1.3	0.1	3	dbSNP_129	135	694,7632		30,634,3499	no	coding-synonymous	MYH15	NM_014981.1		34,866,5230	AA,AC,CC		8.3353,6.1007,7.6183		1186/1947	108147543	934,11326	1967	4163	6130	SO:0001819	synonymous_variant	22989	exon28			TCGGTGCAGCTTC	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3558G>T	3.37:g.108147543C>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	232	125	0.538793	NM_014981		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																			C|0.934;A|0.066	0.066	strong		0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		A	108147543	C	A	108147543	2	1	22	1	0	0	0	0	0	0	0	1	10034	697	25	4		4	MYH15	3	108147543	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66326	108147543	89874887	2163	7271										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108627024	108627024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatcctgatcttttgccaTgccattgataaattcttcta	6	9	3	3	rs16854916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108627024T>C	ENST00000261047.3	-	4	607	c.475A>G	c.(475-477)Atg>Gtg	p.M159V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.H172R	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	159	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.		M -> V (in dbSNP:rs16854916).		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCTTTTGCCATGCCATTGATA	0.398													T|||	76	0.0151757	0.056	0.0029	5008	,	,		17705	0.0		0.0	False		,,,				2504	0.0				p.M159V	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.A475G						PASS	.	T	VAL/MET	184,4222	119.6+/-157.3	3,178,2022	84	82	83		475	-0.5	0	3	dbSNP_123	83	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GUCA1C	NM_005459.3	21	3,179,6321	CC,CT,TT		0.0116,4.1761,1.4224	benign	159/210	108627024	185,12821	2203	4300	6503	SO:0001583	missense	9626	exon4			TTGCCATGCCATT	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.475A>G	3.37:g.108627024T>C	ENSP00000261047:p.Met159Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	115	52	0.452174	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	29|29	0.013278388278388278|0.013278388278388278	28|28	0.056910569105691054|0.056910569105691054	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	T|T	0.866|0.866	-0.733700|-0.733700	0.03111|0.03111	0.041761|0.041761	1.16E-4|1.16E-4	ENSG00000138472|ENSG00000138472	ENST00000393963|ENST00000261047	T|T	0.66638|0.71817	-0.22|-0.6	5.67|5.67	-0.534|-0.534	0.11883|0.11883	.|EF-hand-like domain (1);	.|1.183010	.|0.05826	.|N	.|0.616757	T|T	0.06508|0.06508	0.0167|0.0167	N|N	0.05280|0.05280	-0.08|-0.08	0.09310|0.09310	N|N	1|1	B|B	0.13145|0.02656	0.007|0.0	B|B	0.10450|0.01281	0.005|0.0	T|T	0.08597|0.08597	-1.0714|-1.0714	9|10	0.41790|0.07175	T|T	0.15|0.84	.|.	3.7193|3.7193	0.08450|0.08450	0.1218:0.0744:0.2242:0.5796|0.1218:0.0744:0.2242:0.5796	rs16854916;rs52837740;rs56517263;rs16854916|rs16854916;rs52837740;rs56517263;rs16854916	172|159	C9JNI2|O95843	.|GUC1C_HUMAN	R|V	172|159	ENSP00000377535:H172R|ENSP00000261047:M159V	ENSP00000377535:H172R|ENSP00000261047:M159V	H|M	-|-	2|1	0|0	GUCA1C|GUCA1C	110109714|110109714	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.322000|0.322000	0.28314|0.28314	0.442000|0.442000	0.21628|0.21628	0.073000|0.073000	0.16731|0.16731	-0.461000|-0.461000	0.05368|0.05368	CAT|ATG	T|0.982;C|0.018	0.018	strong		0.398	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		C	108627024	T	C	108627024	3	2	22	1	0	0	0	0	1	0	0	0	6890	1464	51	2	158	2	GUCA1C	3	108627024	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	479481	108627024	89395406	2164	7272										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108639384	108639384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctccattttttcttgcaTgattagatttacagcagcaa	6	8	1	2	rs6804162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108639384T>C	ENST00000261047.3	-	2	385	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.M85V|GUCA1C_ENST00000471108.1_Missense_Mutation_p.M85V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		M -> V (in dbSNP:rs6804162).		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTTTCTTGCATGATTAGATTT	0.289													C|||	1688	0.337061	0.438	0.2522	5008	,	,		18067	0.25		0.3807	False		,,,				2504	0.3057				p.M85V	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.A253G						PASS	.	C	VAL/MET	1844,2562	630.5+/-395.5	393,1058,752	77	74	75		253	3.1	0	3	dbSNP_116	75	3062,5534	657.8+/-401.5	548,1966,1784	yes	missense	GUCA1C	NM_005459.3	21	941,3024,2536	CC,CT,TT		35.6212,41.852,37.7327	benign	85/210	108639384	4906,8096	2203	4298	6501	SO:0001583	missense	9626	exon2			CTTGCATGATTAG	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.253A>G	3.37:g.108639384T>C	ENSP00000261047:p.Met85Val	Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	302	302	1	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	741	0.3392857142857143	205	0.4166666666666667	93	0.2569060773480663	143	0.25	300	0.39577836411609496	C	6.052	0.377909	0.11466	0.41852	0.356212	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.40476	1.03;1.03;1.03	5.17	3.1	0.35709	EF-hand-like domain (1);	0.215490	0.39909	N	0.001229	T	0.00012	0.0000	N	0.11255	0.115	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44757	-0.9307	9	0.06236	T	0.91	.	2.791	0.05388	0.2015:0.4347:0.0:0.3638	rs6804162;rs52828740;rs56507439;rs56791641;rs6804162	85;85	C9JNI2;O95843	.;GUC1C_HUMAN	V	85	ENSP00000377535:M85V;ENSP00000261047:M85V;ENSP00000417761:M85V	ENSP00000261047:M85V	M	-	1	0	GUCA1C	110122074	0.009000	0.17119	0.005000	0.12908	0.729000	0.41735	-0.034000	0.12225	0.598000	0.29829	-0.186000	0.12905	ATG	T|0.647;C|0.353	0.353	strong		0.289	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		C	108639384	T	C	108639384	3	2	22	1	0	0	0	0	1	0	0	0	6890	1464	51	2	388	2	GUCA1C	3	108639384	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12360	108639384	89383046	2165	7273										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108639423	108639423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataaactccaaaaagtcaaCaaatccatcctatggaaagt	4	9	1	0	rs2715687	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108639423C>T	ENST00000261047.3	-	2	346	c.214G>A	c.(214-216)Gtt>Att	p.V72I	GUCA1C_ENST00000393963.3_Missense_Mutation_p.V72I|GUCA1C_ENST00000471108.1_Missense_Mutation_p.V72I	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		V -> I (in dbSNP:rs2715687). {ECO:0000269|PubMed:10037746}.		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AAAAAGTCAACAAATCCATCC	0.303													T|||	3113	0.621605	0.7057	0.6268	5008	,	,		18843	0.379		0.7237	False		,,,				2504	0.6493				p.V72I	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.G214A						PASS	.	T	ILE/VAL	3123,1283	423.4+/-340.1	1094,935,174	51	49	50		214	4	1	3	dbSNP_100	50	6030,2562	408.7+/-349.6	2127,1776,393	yes	missense	GUCA1C	NM_005459.3	29	3221,2711,567	TT,TC,CC		29.8184,29.1194,29.5815	benign	72/210	108639423	9153,3845	2203	4296	6499	SO:0001583	missense	9626	exon2			AGTCAACAAATCC	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.214G>A	3.37:g.108639423C>T	ENSP00000261047:p.Val72Ile	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	205	204	0.995122	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	1347	0.6167582417582418	347	0.7052845528455285	233	0.643646408839779	205	0.3583916083916084	562	0.741424802110818	T	1.402	-0.577954	0.03854	0.708806	0.701816	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.76186	-1.0;-1.0;-1.0	5.17	4.0	0.46444	EF-hand-like domain (1);	0.101830	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00608	-1.33	0.52501	P	4.999999999999449E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46582	-0.9181	9	0.02654	T	1	.	8.2139	0.31499	0.0:0.1685:0.0:0.8315	rs2715687;rs3749284;rs52812479;rs61275317;rs2715687	72;72	C9JNI2;O95843	.;GUC1C_HUMAN	I	72	ENSP00000377535:V72I;ENSP00000261047:V72I;ENSP00000417761:V72I	ENSP00000261047:V72I	V	-	1	0	GUCA1C	110122113	1.000000	0.71417	0.998000	0.56505	0.624000	0.37722	4.443000	0.59994	0.302000	0.22762	-0.332000	0.08345	GTT	C|0.337;T|0.662	0.662	strong		0.303	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		T	108639423	C	T	108639423	3	4	22	1	0	0	0	0	1	0	0	0	6890	478	17	2	427	2	GUCA1C	3	108639423	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39	108639423	89383007	2166	7274										
MORC1	27136	hgsc.bcm.edu	37	chr3	108690221	108690221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caattctgatggtagctgatGctcaggaaaaaaatacagaa	9	6	2	3	rs2593943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108690221G>A	ENST00000483760.1	-	24	2486	c.2443C>T	c.(2443-2445)Cat>Tat	p.H815Y	MORC1_ENST00000232603.5_Missense_Mutation_p.H836Y					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTAGCTGATGCTCAGGAAAA	0.408													A|||	1688	0.337061	0.4342	0.2824	5008	,	,		18970	0.1071		0.4314	False		,,,				2504	0.3845				p.H836Y		Atlas-SNP	.											.	MORC1	211	.	0			c.C2506T						PASS	.	A	TYR/HIS	1987,2419	617.3+/-392.9	445,1097,661	116	119	118		2506	2.2	1	3	dbSNP_100	118	3625,4975	624.8+/-397.6	773,2079,1448	yes	missense	MORC1	NM_014429.3	83	1218,3176,2109	AA,AG,GG		42.1512,45.0976,43.1493	benign	836/985	108690221	5612,7394	2203	4300	6503	SO:0001583	missense	27136	exon25			GCTGATGCTCAGG	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2443C>T	3.37:g.108690221G>A	ENSP00000417282:p.His815Tyr	Somatic	313	1	0.00319489		WXS	Illumina HiSeq	Phase_I	303	155	0.511551	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		722	0.3305860805860806	221	0.4491869918699187	122	0.3370165745856354	43	0.07517482517482517	336	0.44327176781002636	A	0.482	-0.879434	0.02550	0.450976	0.421512	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.04862	3.54;3.54	4.69	2.2	0.27929	.	0.815127	0.10356	N	0.684562	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45396	-0.9264	9	0.02654	T	1	-1.0664	4.1247	0.10121	0.6363:0.1762:0.1875:0.0	rs2593943;rs17593430;rs52816473;rs59891599;rs2593943	815;836	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	836;815	ENSP00000232603:H836Y;ENSP00000417282:H815Y	ENSP00000232603:H836Y	H	-	1	0	MORC1	110172911	0.744000	0.28250	0.973000	0.42090	0.912000	0.54170	1.068000	0.30629	0.055000	0.16094	-0.260000	0.10688	CAT	G|0.607;A|0.392	0.392	strong		0.408	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108690221	G	A	108690221	3	1	22	1	0	0	0	0	1	0	0	0	9701	1319	46	2	464	2	MORC1	3	108690221	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50798	108690221	89332209	2167	7275										
MORC1	27136	hgsc.bcm.edu	37	chr3	108719470	108719470	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacattcctctacaaagttCagactctgcttccttttcat	3	12	4	1	rs3762698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108719470C>G	ENST00000483760.1	-	20	2101	c.2058G>C	c.(2056-2058)ctG>ctC	p.L686L	MORC1_ENST00000232603.5_Silent_p.L707L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTACAAAGTTCAGACTCTGCT	0.358													C|||	1038	0.207268	0.2693	0.2003	5008	,	,		18160	0.0278		0.2694	False		,,,				2504	0.2495				p.L707L		Atlas-SNP	.											.	MORC1	211	.	0			c.G2121C						PASS	.	C		1265,3141	432.0+/-343.1	188,889,1126	177	173	174		2121	-2	0	3	dbSNP_107	174	2422,6176	400.8+/-346.9	354,1714,2231	no	coding-synonymous	MORC1	NM_014429.3		542,2603,3357	GG,GC,CC		28.1693,28.7108,28.3528		707/985	108719470	3687,9317	2203	4299	6502	SO:0001819	synonymous_variant	27136	exon21			AAAGTTCAGACTC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2058G>C	3.37:g.108719470C>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_014429		Silent	SNP	ENST00000483760.1	37																																																																																				C|0.734;G|0.266	0.266	strong		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			G	108719470	C	G	108719470	2	3	22	1	0	0	0	0	0	0	0	1	9701	813	29	4		4	MORC1	3	108719470	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29249	108719470	89302960	2168	7276										
MORC1	27136	hgsc.bcm.edu	37	chr3	108754214	108754214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgatgaatgggatacccaTggcttgtcttctttgatatt	9	6	2	3	rs3762697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108754214T>C	ENST00000483760.1	-	15	1475	c.1432A>G	c.(1432-1434)Atg>Gtg	p.M478V	MORC1_ENST00000232603.5_Missense_Mutation_p.M478V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGGATACCCATGGCTTGTCTT	0.318													T|||	741	0.147963	0.2262	0.0922	5008	,	,		17273	0.0823		0.163	False		,,,				2504	0.1339				p.M478V		Atlas-SNP	.											.	MORC1	211	.	0			c.A1432G						PASS	.	T	VAL/MET	983,3423	366.4+/-317.8	109,765,1329	112	105	107		1432	3.6	1	3	dbSNP_107	107	1212,7388	245.6+/-274.3	76,1060,3164	yes	missense	MORC1	NM_014429.3	21	185,1825,4493	CC,CT,TT		14.093,22.3105,16.8768	benign	478/985	108754214	2195,10811	2203	4300	6503	SO:0001583	missense	27136	exon15			TACCCATGGCTTG	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1432A>G	3.37:g.108754214T>C	ENSP00000417282:p.Met478Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		313	0.1433150183150183	119	0.241869918699187	42	0.11602209944751381	28	0.04895104895104895	124	0.16358839050131926	T	9.688	1.151217	0.21371	0.223105	0.14093	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05925	3.37;3.39	4.76	3.58	0.41010	Zinc finger, CW-type (1);	0.103731	0.43747	D	0.000528	T	0.00012	0.0000	M	0.66939	2.045	0.33868	P	0.365425	B;B	0.20887	0.013;0.049	B;B	0.25987	0.006;0.065	T	0.36480	-0.9746	9	0.30078	T	0.28	-14.86	8.6446	0.33998	0.0:0.0:0.1935:0.8065	rs3762697;rs52811107;rs3762697	478;478	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	478	ENSP00000232603:M478V;ENSP00000417282:M478V	ENSP00000232603:M478V	M	-	1	0	MORC1	110236904	0.984000	0.35163	1.000000	0.80357	0.814000	0.46013	-0.070000	0.11523	0.930000	0.37217	0.402000	0.26972	ATG	T|0.839;C|0.161	0.161	strong		0.318	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			C	108754214	T	C	108754214	3	2	22	1	0	0	0	0	1	0	0	0	9701	1464	51	2	1578	2	MORC1	3	108754214	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34744	108754214	89268216	2169	7277										
MORC1	27136	hgsc.bcm.edu	37	chr3	108754260	108754260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatttaaaggtttctccacAtcgatgtcattctggtatcc	7	9	3	0	rs3762696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108754260A>G	ENST00000483760.1	-	15	1429	c.1386T>C	c.(1384-1386)gaT>gaC	p.D462D	MORC1_ENST00000232603.5_Silent_p.D462D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTTCTCCACATCGATGTCAT	0.294													G|||	1804	0.360224	0.5136	0.2939	5008	,	,		14763	0.1101		0.4324	False		,,,				2504	0.3834				p.D462D		Atlas-SNP	.											.	MORC1	211	.	0			c.T1386C						PASS	.	G		2321,2085	571.8+/-383.2	621,1079,503	100	95	97		1386	-4.3	0	3	dbSNP_107	97	3640,4960	623.5+/-397.5	785,2070,1445	no	coding-synonymous	MORC1	NM_014429.3		1406,3149,1948	GG,GA,AA		42.3256,47.3218,45.8327		462/985	108754260	5961,7045	2203	4300	6503	SO:0001819	synonymous_variant	27136	exon15			CTCCACATCGATG	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1386T>C	3.37:g.108754260A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_014429		Silent	SNP	ENST00000483760.1	37																																																																																				G|0.422;A|0.578	0.422	strong		0.294	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			G	108754260	A	G	108754260	2	3	22	1	0	0	0	0	0	0	0	1	9701	214	8	2		2	MORC1	3	108754260	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46	108754260	89268170	2170	7278										
MORC1	27136	hgsc.bcm.edu	37	chr3	108780895	108780895	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatttgtgcttctttcaaTatggattcagctggaagtag	10	5	3	1	rs79817474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:108780895T>A	ENST00000483760.1	-	11	949	c.906A>T	c.(904-906)atA>atT	p.I302I	MORC1_ENST00000232603.5_Silent_p.I302I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTCTTTCAATATGGATTCAG	0.343													T|||	38	0.00758786	0.0265	0.0043	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.0				p.I302I		Atlas-SNP	.											.	MORC1	211	.	0			c.A906T						PASS	.	T		125,4281	92.0+/-130.7	2,121,2080	191	175	181		906	-8.9	0	3	dbSNP_132	181	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MORC1	NM_014429.3		2,123,6378	AA,AT,TT		0.0233,2.837,0.9765		302/985	108780895	127,12879	2203	4300	6503	SO:0001819	synonymous_variant	27136	exon11			TTTCAATATGGAT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.906A>T	3.37:g.108780895T>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	121	68	0.561983	NM_014429		Silent	SNP	ENST00000483760.1	37																																																																																				T|0.989;A|0.011	0.011	strong		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108780895	T	A	108780895	2	1	22	1	0	0	0	0	0	0	0	1	9701	1396	49	5		5	MORC1	3	108780895	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26635	108780895	89241535	2171	7279										
DPPA4	55211	hgsc.bcm.edu	37	chr3	109049507	109049507	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcaaggagagcagtggaAttttccagggcaggcggctc	14	11	1	1	rs16834356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:109049507A>G	ENST00000335658.6	-	5	597	c.543T>C	c.(541-543)aaT>aaC	p.N181N	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	181					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GAGCAGTGGAATTTTCCAGGG	0.547													A|||	41	0.0081869	0.028	0.0043	5008	,	,		15162	0.0		0.001	False		,,,				2504	0.0				p.N181N		Atlas-SNP	.											.	DPPA4	56	.	0			c.T543C						PASS	.	A		122,4284	93.0+/-131.7	3,116,2084	71	77	75		543	-8.2	0	3	dbSNP_123	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DPPA4	NM_018189.3		3,117,6383	GG,GA,AA		0.0116,2.769,0.9457		181/305	109049507	123,12883	2203	4300	6503	SO:0001819	synonymous_variant	55211	exon5			AGTGGAATTTTCC	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.543T>C	3.37:g.109049507A>G		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	204	204	1	NM_018189	A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	CCDS33814.1																																																																																			A|0.991;G|0.009	0.009	strong		0.547	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		G	109049507	A	G	109049507	2	3	22	1	0	0	0	0	0	0	0	1	4736	98	4	2		2	DPPA4	3	109049507	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	268612	109049507	88972923	2172	7280										
ZBED2	79413	hgsc.bcm.edu	37	chr3	111312965	111312965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagttctcctgtctcactAatctcttcctcctccttcat	2	17	4	0	rs34083626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:111312965A>T	ENST00000317012.4	-	2	1092	c.84T>A	c.(82-84)atT>atA	p.I28I	CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	28							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						CTGTCTCACTAATCTCTTCCT	0.517													A|||	266	0.053115	0.1891	0.0187	5008	,	,		14454	0.0		0.003	False		,,,				2504	0.0				p.I28I		Atlas-SNP	.											.	ZBED2	22	.	0			c.T84A						PASS	.	A	,,	642,3764	274.6+/-272.0	38,566,1599	268	221	237		,84,	0.4	0	3	dbSNP_126	237	9,8591	5.7+/-21.5	0,9,4291	no	intron,coding-synonymous,intron	CD96,ZBED2	NM_005816.4,NM_024508.4,NM_198196.2	,,	38,575,5890	TT,TA,AA		0.1047,14.571,5.0054	,,	,28/219,	111312965	651,12355	2203	4300	6503	SO:0001819	synonymous_variant	79413	exon2			CTCACTAATCTCT	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.84T>A	3.37:g.111312965A>T		Somatic	265	1	0.00377358		WXS	Illumina HiSeq	Phase_I	304	136	0.447368	NM_024508	D3DN62	Silent	SNP	ENST00000317012.4	37	CCDS2960.2																																																																																			A|0.950;T|0.050	0.050	strong		0.517	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		T	111312965	A	T	111312965	2	4	22	1	0	0	0	0	0	0	0	1	17515	358	13	5		5	ZBED2	3	111312965	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2263458	111312965	86709465	2173	7281										
TMPRSS7	344805	hgsc.bcm.edu	37	chr3	111760812	111760812	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttactttgctgggatgtttcGcatcaccaacattgagtttc	8	9	1	1	rs11914332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:111760812G>C	ENST00000452346.2	+	3	347	c.344G>C	c.(343-345)cGc>cCc	p.R115P	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R3P			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	115	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGGATGTTTCGCATCACCAAC	0.453													G|||	227	0.0453275	0.0719	0.0519	5008	,	,		19940	0.0159		0.0408	False		,,,				2504	0.0399				p.R3P		Atlas-SNP	.											TMPRSS7_ENST00000419127,colon,carcinoma,+1,2	TMPRSS7	126	2	0			c.G8C						scavenged	.						119	101	107					3																	111760812		692	1591	2283	SO:0001583	missense	344805	exon2			TGTTTCGCATCAC	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.344G>C	3.37:g.111760812G>C	ENSP00000398236:p.Arg115Pro	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	142	73	0.514085	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		99	0.04532967032967033	37	0.07520325203252033	21	0.058011049723756904	11	0.019230769230769232	30	0.0395778364116095	G	24.0	4.480901	0.84747	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.49432	0.78;0.78	5.55	5.55	0.83447	.	.	.	.	.	T	0.05823	0.0152	L	0.29908	0.895	0.19300	P	0.9999771033	D	0.60575	0.988	P	0.62014	0.897	T	0.35450	-0.9788	8	0.87932	D	0	.	16.4227	0.83772	0.0:0.0:1.0:0.0	rs11914332;rs59564744;rs11914332	3	Q7RTY8-2	.	P	115;102;102;3	ENSP00000398236:R115P;ENSP00000411645:R3P	ENSP00000411645:R3P	R	+	2	0	TMPRSS7	113243502	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	8.189000	0.89712	2.622000	0.88805	0.557000	0.71058	CGC	G|0.957;C|0.043	0.043	strong		0.453	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		C	111760812	G	C	111760812	3	2	22	1	0	0	0	0	1	0	0	0	16249	1087	38	4	10	4	TMPRSS7	3	111760812	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	447847	111760812	86261618	2174	7282										
C3orf52	79669	hgsc.bcm.edu	37	chr3	111821747	111821747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcaaacaaaacattcttcAtcatgctgaagattccagag	5	10	4	3	rs16859190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:111821747A>G	ENST00000264848.5	+	3	390	c.331A>G	c.(331-333)Atc>Gtc	p.I111V	C3orf52_ENST00000431717.2_Missense_Mutation_p.I111V|C3orf52_ENST00000430855.1_Missense_Mutation_p.I111V	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	111			I -> V (in dbSNP:rs16859190).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AACATTCTTCATCATGCTGAA	0.363													G|||	618	0.123403	0.2799	0.0591	5008	,	,		19051	0.0605		0.0368	False		,,,				2504	0.1115				p.I111V		Atlas-SNP	.											.	C3orf52	28	.	0			c.A331G						PASS	.	G	VAL/ILE,VAL/ILE	831,2907		83,665,1121	75	69	71		331,331	2.6	0.2	3	dbSNP_123	71	250,7962		3,244,3859	yes	missense,missense	C3orf52	NM_001171747.1,NM_024616.2	29,29	86,909,4980	GG,GA,AA		3.0443,22.2311,9.046	benign,benign	111/251,111/218	111821747	1081,10869	1869	4106	5975	SO:0001583	missense	79669	exon3			TTCTTCATCATGC	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"TPA induced trans-membrane protein"	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.331A>G	3.37:g.111821747A>G	ENSP00000264848:p.Ile111Val	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	185	88	0.475676	NM_001171747	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	ENST00000264848.5	37	CCDS46887.1	225|225	0.10302197802197802|0.10302197802197802	142|142	0.2886178861788618|0.2886178861788618	23|23	0.06353591160220995|0.06353591160220995	34|34	0.05944055944055944|0.05944055944055944	26|26	0.03430079155672823|0.03430079155672823	G|G	0.004|0.004	-2.336876|-2.336876	0.00224|0.00224	0.222311|0.222311	0.030443|0.030443	ENSG00000114529|ENSG00000114529	ENST00000484828|ENST00000430855;ENST00000431717;ENST00000264848	.|T;T;T	.|0.09445	.|2.98;2.98;2.98	5.66|5.66	2.6|2.6	0.31112|0.31112	.|.	.|0.242891	.|0.33040	.|N	.|0.005345	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.45440|0.45440	-0.9261|-0.9261	4|9	.|0.02654	.|T	.|1	-31.071|-31.071	3.6032|3.6032	0.08032|0.08032	0.4011:0.1919:0.407:0.0|0.4011:0.1919:0.407:0.0	rs16859190;rs52821979;rs16859190|rs16859190;rs52821979;rs16859190	.|111;111;111	.|Q5BVD1-2;Q5BVD1-3;Q5BVD1	.|.;.;TTMP_HUMAN	R|V	101|111	.|ENSP00000390333:I111V;ENSP00000399392:I111V;ENSP00000264848:I111V	.|ENSP00000264848:I111V	H|I	+|+	2|1	0|0	C3orf52|C3orf52	113304437|113304437	0.000000|0.000000	0.05858|0.05858	0.168000|0.168000	0.22838|0.22838	0.051000|0.051000	0.14879|0.14879	-0.301000|-0.301000	0.08232|0.08232	-0.028000|-0.028000	0.13850|0.13850	-0.684000|-0.684000	0.03749|0.03749	CAT|ATC	A|0.895;G|0.105	0.105	strong		0.363	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		G	111821747	A	G	111821747	3	3	22	1	0	0	0	0	1	0	0	0	2232	217	8	2	341	2	C3orf52	3	111821747	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60935	111821747	86200683	2175	7283										
SLC35A5	55032	hgsc.bcm.edu	37	chr3	112292765	112292765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatcttctcaaattttagCattataacaacagctcttct	3	9	4	0	rs61732187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112292765C>T	ENST00000492406.1	+	5	673	c.390C>T	c.(388-390)agC>agT	p.S130S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	130					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAAATTTTAGCATTATAACAA	0.353													C|||	119	0.023762	0.0832	0.013	5008	,	,		18592	0.0		0.0	False		,,,				2504	0.0				p.S130S		Atlas-SNP	.											.	SLC35A5	40	.	0			c.C390T						PASS	.	C		278,4128	156.6+/-189.7	8,262,1933	191	205	200		390	5.9	1	3	dbSNP_129	200	0,8600		0,0,4300	no	coding-synonymous	SLC35A5	NM_017945.2		8,262,6233	TT,TC,CC		0.0,6.3096,2.1375		130/425	112292765	278,12728	2203	4300	6503	SO:0001819	synonymous_variant	55032	exon5			TTTTAGCATTATA	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.390C>T	3.37:g.112292765C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	183	183	1	NM_017945	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Silent	SNP	ENST00000492406.1	37	CCDS2967.1																																																																																			C|0.976;T|0.024	0.024	strong		0.353	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		T	112292765	C	T	112292765	2	4	22	1	0	0	0	0	0	0	0	1	14574	709	25	2		2	SLC35A5	3	112292765	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	471018	112292765	85729665	2176	7284										
CD200R1L	344807	hgsc.bcm.edu	37	chr3	112545875	112545875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggacagactcttgttgccaGtcaaatgggagacatggcag	13	9	2	2	rs61740125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112545875G>A	ENST00000398214.1	-	4	869	c.644C>T	c.(643-645)aCt>aTt	p.T215I	CD200R1L_ENST00000488794.1_Missense_Mutation_p.T194I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T194I	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	215	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTTGTTGCCAGTCAAATGGGA	0.453													G|||	201	0.0401358	0.0968	0.0115	5008	,	,		19144	0.002		0.001	False		,,,				2504	0.0634				p.T215I		Atlas-SNP	.											.	CD200R1L	47	.	0			c.C644T						PASS	.	G	ILE/THR,ILE/THR	351,4045	164.4+/-196.0	7,337,1854	66	70	68		644,581	3.5	0.3	3	dbSNP_129	68	6,8592	5.0+/-18.6	0,6,4293	yes	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	89,89	7,343,6147	AA,AG,GG		0.0698,7.9845,2.7474	probably-damaging,probably-damaging	215/272,194/251	112545875	357,12637	2198	4299	6497	SO:0001583	missense	344807	exon4			TTGCCAGTCAAAT	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.644C>T	3.37:g.112545875G>A	ENSP00000381272:p.Thr215Ile	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_001008784	Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	CCDS43131.1	71	0.03250915750915751	65	0.13211382113821138	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	G	16.52	3.146835	0.57151	0.079845	6.98E-4	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.76578	-1.03;-1.03;-1.03	4.35	3.45	0.39498	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276049	0.31279	N	0.007923	T	0.07324	0.0185	M	0.87547	2.89	0.34063	P	0.342499	D	0.76494	0.999	D	0.72982	0.979	T	0.63220	-0.6686	9	0.72032	D	0.01	.	10.1628	0.42862	0.0:0.2033:0.7967:0.0	.	215	Q6Q8B3	MO2R2_HUMAN	I	215;194;194	ENSP00000381272:T215I;ENSP00000418413:T194I;ENSP00000415132:T194I	ENSP00000381272:T215I	T	-	2	0	CD200R1L	114028565	0.138000	0.22547	0.331000	0.25455	0.900000	0.52787	2.570000	0.45981	1.126000	0.42016	0.655000	0.94253	ACT	G|0.979;A|0.021	0.021	strong		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		A	112545875	G	A	112545875	3	1	22	1	0	0	0	0	1	0	0	0	2982	1029	36	2	183	2	CD200R1L	3	112545875	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	253110	112545875	85476555	2177	7285										
CD200R1	131450	hgsc.bcm.edu	37	chr3	112642568	112642568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcactttgtaatgcctCagatgccttcaccttgtttg	6	11	3	1	rs9865242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112642568C>G	ENST00000471858.1	-	7	1166	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CD200R1_ENST00000308611.3_Missense_Mutation_p.E335Q|CD200R1_ENST00000295863.4_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	312			E -> Q (in dbSNP:rs9865242). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039}.		regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTAATGCCTCAGATGCCTTC	0.378													G|||	3261	0.651158	0.7209	0.6066	5008	,	,		19251	0.7024		0.5328	False		,,,				2504	0.6575				p.E335Q		Atlas-SNP	.											.	CD200R1	91	.	0			c.G1003C						PASS	.	G	GLN/GLU,GLN/GLU	3013,1393	459.8+/-352.4	1023,967,213	192	173	180		1003,934	2.5	0	3	dbSNP_119	180	4582,4018	555.1+/-386.6	1225,2132,943	yes	missense,missense	CD200R1	NM_138806.3,NM_170780.2	29,29	2248,3099,1156	GG,GC,CC		46.7209,31.616,41.6039	benign,benign	335/349,312/326	112642568	7595,5411	2203	4300	6503	SO:0001583	missense	131450	exon8			ATGCCTCAGATGC	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.934G>C	3.37:g.112642568C>G	ENSP00000418928:p.Glu312Gln	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	207	206	0.995169	NM_138806	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	1375	0.6295787545787546	342	0.6951219512195121	222	0.6132596685082873	398	0.6958041958041958	413	0.5448548812664907	G	0.342	-0.949804	0.02285	0.68384	0.532791	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.13901	2.55;2.57	5.6	2.49	0.30216	.	1.507110	0.05097	N	0.486254	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	4.4375	0.11557	0.0811:0.1253:0.5105:0.2831	rs9865242;rs58650611;rs9865242	312;335	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	Q	312;335	ENSP00000418928:E312Q;ENSP00000311035:E335Q	ENSP00000311035:E335Q	E	-	1	0	CD200R1	114125258	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.073000	0.14640	0.321000	0.23259	-0.127000	0.14921	GAG	C|0.406;G|0.594	0.594	strong		0.378	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		G	112642568	C	G	112642568	3	3	22	1	0	0	0	0	1	0	0	0	2981	835	29	4	47	4	CD200R1	3	112642568	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96693	112642568	85379862	2178	7286										
CD200R1	131450	hgsc.bcm.edu	37	chr3	112647832	112647832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctctgggatccaggagatAtgcgcagctggcttccctgc	12	14	1	1	rs9826308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112647832A>C	ENST00000471858.1	-	4	763	c.531T>G	c.(529-531)caT>caG	p.H177Q	CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.H200Q|CD200R1_ENST00000295863.4_Missense_Mutation_p.H155Q|CD200R1_ENST00000440122.2_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	177	Ig-like C2-type.		Q -> H (in allele 2; dbSNP:rs9826308). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15274657, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7}.		regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TCCAGGAGATATGCGCAGCTG	0.502													C|||	3263	0.651558	0.7216	0.6066	5008	,	,		18584	0.7024		0.5328	False		,,,				2504	0.6585				p.H200Q		Atlas-SNP	.											.	CD200R1	91	.	0			c.T600G						PASS	.	C	GLN/HIS,,,GLN/HIS	3012,1394	460.5+/-352.6	1023,966,214	107	89	95		600,,,531	3.6	0.7	3	dbSNP_119	95	4581,4019	555.7+/-386.7	1224,2133,943	yes	missense,utr-3,utr-3,missense	CD200R1	NM_138806.3,NM_138939.2,NM_138940.2,NM_170780.2	24,,,24	2247,3099,1157	CC,CA,AA		46.7326,31.6387,41.6193	benign,,,benign	200/349,,,177/326	112647832	7593,5413	2203	4300	6503	SO:0001583	missense	131450	exon5			GGAGATATGCGCA	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.531T>G	3.37:g.112647832A>C	ENSP00000418928:p.His177Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_138806	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	1375	0.6295787545787546	342	0.6951219512195121	222	0.6132596685082873	398	0.6958041958041958	413	0.5448548812664907	C	0.033	-1.319975	0.01320	0.683613	0.532674	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	3.59	0.41128	.	0.651463	0.14922	N	0.290632	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999209259	.	.	.	.	.	.	T	0.42682	-0.9437	6	0.02654	T	1	.	9.9902	0.41865	0.1423:0.5516:0.3061:0.0	rs9826308;rs52825592;rs9826308	.	.	.	Q	177;200;155	ENSP00000418928:H177Q;ENSP00000311035:H200Q;ENSP00000295863:H155Q	ENSP00000295863:H155Q	H	-	3	2	CD200R1	114130522	0.179000	0.23135	0.707000	0.30419	0.196000	0.23810	0.343000	0.19944	0.241000	0.21283	-0.988000	0.02552	CAT	A|0.408;C|0.592	0.592	strong		0.502	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		C	112647832	A	C	112647832	3	2	22	1	0	0	0	0	1	0	0	0	2981	446	16	5	462	5	CD200R1	3	112647832	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5264	112647832	85374598	2179	7287										
CD200R1	131450	hgsc.bcm.edu	37	chr3	112648125	112648125	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtcatgagtgatggccacGgtacgaatctgaaggtccga					rs6438117|rs71625219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112648125G>T	ENST00000471858.1	-	3	595	c.363C>A	c.(361-363)acC>acA	p.T121T	CD200R1_ENST00000490004.1_Silent_p.T121T|CD200R1_ENST00000308611.3_Silent_p.T144T|CD200R1_ENST00000295863.4_Silent_p.T99T|CD200R1_ENST00000440122.2_Silent_p.T144T	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	121	Ig-like V-type.		P -> T (in allele 2; dbSNP:rs4596117). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15274657, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7}.		regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGATGGCCACGGTACGAATCT	0.448													T|||	3262	0.651358	0.7216	0.6066	5008	,	,		19604	0.7024		0.5328	False		,,,				2504	0.6575				p.T144T		Atlas-SNP	.											CD200R1_ENST00000440122,colon,carcinoma,0,2	CD200R1	91	2	0			c.C432A						PASS	.	T	,,,	1835,2571		838,159,1206	174	167	169		432,432,363,363	1.5	0.1	3	dbSNP_116	169	2088,6512		903,282,3115	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD200R1	NM_138806.3,NM_138939.2,NM_138940.2,NM_170780.2	,,,	1741,441,4321	TT,TG,GG		24.2791,41.6478,30.163	,,,	144/349,144/189,121/166,121/326	112648125	3923,9083	2203	4300	6503	SO:0001819	synonymous_variant	131450	exon4			GGCCACGGTACGA	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.363C>A	3.37:g.112648125G>T		Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	313	313	1	NM_138806	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	CCDS2970.1																																																																																			GGT|0.500;TGG|0.500	.	alt		0.448	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		T	112648125	G	T	112648125	2	4	22	1	0	0	0	0	0	0	0	1	2981	1103	39	4		4	CD200R1	3	112648125	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	293	112648125	85374305	2180	7288	143	2								
CD200R1	131450	hgsc.bcm.edu	37	chr3	112648127	112648127	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcatgagtgatggccacggTacgaatctgaaggtccgaat					rs199845196|rs4596117|rs71625219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112648127T>G	ENST00000471858.1	-	3	593	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	CD200R1_ENST00000308611.3_Missense_Mutation_p.T144P|CD200R1_ENST00000440122.2_Missense_Mutation_p.T144P|CD200R1_ENST00000490004.1_Missense_Mutation_p.T121P|CD200R1_ENST00000295863.4_Missense_Mutation_p.T99P	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	121	Ig-like V-type.		P -> T (in allele 2; dbSNP:rs4596117). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15274657, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7}.		regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ATGGCCACGGTACGAATCTGA	0.448													G|||	3262	0.651358	0.7216	0.6066	5008	,	,		19394	0.7024		0.5328	False		,,,				2504	0.6575				p.T144P		Atlas-SNP	.											CD200R1_ENST00000440122,colon,carcinoma,+2,2	CD200R1	91	2	0			c.A430C						PASS	.	G	PRO/THR,PRO/THR,PRO/THR,PRO/THR	1708,2698		760,188,1255	172	167	169		430,430,361,361	4.6	0.1	3	dbSNP_111	169	1948,6652		819,310,3171	no	missense,missense,missense,missense	CD200R1	NM_138806.3,NM_138939.2,NM_138940.2,NM_170780.2	38,38,38,38	1579,498,4426	GG,GT,TT		22.6512,38.7653,28.1101	benign,benign,benign,benign	144/349,144/189,121/166,121/326	112648127	3656,9350	2203	4300	6503	SO:0001583	missense	131450	exon4			CCACGGTACGAAT	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.361A>C	3.37:g.112648127T>G	ENSP00000418928:p.Thr121Pro	Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	316	316	1	NM_138806	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	1375	0.6295787545787546	342	0.6951219512195121	222	0.6132596685082873	398	0.6958041958041958	413	0.5448548812664907	G	0.680	-0.798743	0.02841	0.387653	0.226512	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.47	4.59	0.56863	.	0.578559	0.17694	N	0.165145	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.43814	-0.9368	6	0.02654	T	1	.	3.9397	0.09321	0.0905:0.2038:0.559:0.1467	rs4596117;rs57150132	.	.	.	P	121;144;99;144;121	ENSP00000418928:T121P;ENSP00000311035:T144P;ENSP00000295863:T99P;ENSP00000405733:T144P;ENSP00000418801:T121P	ENSP00000295863:T99P	T	-	1	0	CD200R1	114130817	0.264000	0.24093	0.053000	0.19242	0.023000	0.10783	0.769000	0.26604	0.670000	0.31165	-0.224000	0.12420	ACC	T|0.404;G|0.596	0.596	strong		0.448	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		G	112648127	T	G	112648127	3	3	22	1	0	0	0	0	1	0	0	0	2981	1638	57	5	683	5	CD200R1	3	112648127	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2	112648127	85374303	2181	7289	143	2								
CD200R1	131450	hgsc.bcm.edu	37	chr3	112648222	112648222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtctcatttgtttctttcTtgtaggcttttgtgcaggaa	10	6	3	0	rs2171509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112648222T>C	ENST00000471858.1	-	3	498	c.266A>G	c.(265-267)aAg>aGg	p.K89R	CD200R1_ENST00000308611.3_Missense_Mutation_p.K112R|CD200R1_ENST00000440122.2_Missense_Mutation_p.K112R|CD200R1_ENST00000490004.1_Missense_Mutation_p.K89R|CD200R1_ENST00000295863.4_Missense_Mutation_p.K67R	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	89	Ig-like V-type.		R -> K (in allele 2; dbSNP:rs2171509). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7}.		regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTTTCTTTCTTGTAGGCTTT	0.433													t|||	3262	0.651358	0.7216	0.6066	5008	,	,		18096	0.7024		0.5328	False		,,,				2504	0.6575				p.K112R		Atlas-SNP	.											.	CD200R1	91	.	0			c.A335G						PASS	.	C	ARG/LYS,ARG/LYS,ARG/LYS,ARG/LYS	3010,1396	686.0+/-404.6	1023,964,216	155	150	151		335,335,266,266	-0.6	0	3	dbSNP_96	151	4576,4024	595.6+/-393.5	1224,2128,948	no	missense,missense,missense,missense	CD200R1	NM_138806.3,NM_138939.2,NM_138940.2,NM_170780.2	26,26,26,26	2247,3092,1164	CC,CT,TT		46.7907,31.6841,41.6731	benign,benign,benign,benign	112/349,112/189,89/166,89/326	112648222	7586,5420	2203	4300	6503	SO:0001583	missense	131450	exon4			TCTTTCTTGTAGG	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.266A>G	3.37:g.112648222T>C	ENSP00000418928:p.Lys89Arg	Somatic	388	0	0		WXS	Illumina HiSeq	Phase_I	419	407	0.97136	NM_138806	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	1375	0.6295787545787546	342	0.6951219512195121	222	0.6132596685082873	398	0.6958041958041958	413	0.5448548812664907	t	0.209	-1.038495	0.02013	0.683159	0.532093	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.36	-0.585	0.11698	.	0.626649	0.16488	N	0.212239	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33420	-0.9869	6	0.02654	T	1	.	5.1545	0.15027	0.1331:0.4271:0.0:0.4398	rs2171509;rs3844660;rs57074545;rs2171509	.	.	.	R	89;112;67;112;89	ENSP00000418928:K89R;ENSP00000311035:K112R;ENSP00000295863:K67R;ENSP00000405733:K112R;ENSP00000418801:K89R	ENSP00000295863:K67R	K	-	2	0	CD200R1	114130912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.319000	0.02702	-0.863000	0.04084	-2.009000	0.00441	AAG	.	.	weak		0.433	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		C	112648222	T	C	112648222	3	2	22	1	0	0	0	0	1	0	0	0	2981	1609	56	3	778	3	CD200R1	3	112648222	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95	112648222	85374208	2182	7290										
BOC	91653	hgsc.bcm.edu	37	chr3	112993412	112993412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggctcccgccgaggctccCatcatcctcagctcgccccg	11	20	2	0	rs7615578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:112993412C>T	ENST00000495514.1	+	9	2129	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	BOC_ENST00000273395.4_Silent_p.P475P|BOC_ENST00000355385.3_Silent_p.P475P|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	475	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCGAGGCTCCCATCATCCTCA	0.672													C|||	55	0.0109824	0.0401	0.0029	5008	,	,		17614	0.0		0.0	False		,,,				2504	0.0				p.P475P		Atlas-SNP	.											.	BOC	139	.	0			c.C1425T						PASS	.	C		178,4226		3,172,2027	29	34	32		1425	-2.2	0.3	3	dbSNP_116	32	2,8596		0,2,4297	no	coding-synonymous	BOC	NM_033254.2		3,174,6324	TT,TC,CC		0.0233,4.0418,1.3844		475/1115	112993412	180,12822	2202	4299	6501	SO:0001819	synonymous_variant	91653	exon9			GGCTCCCATCATC	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1425C>T	3.37:g.112993412C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	215	104	0.483721	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																			C|0.985;T|0.015	0.015	strong		0.672	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		T	112993412	C	T	112993412	2	4	22	1	0	0	0	0	0	0	0	1	1481	581	21	2		2	BOC	3	112993412	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	345190	112993412	85029018	2183	7291										
SIDT1	54847	hgsc.bcm.edu	37	chr3	113285272	113285272	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccctgccatgcaggtgacAgccgtgagggtgtatgtgaa	14	9	0	3	rs61734094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113285272A>C	ENST00000264852.4	+	2	954	c.228A>C	c.(226-228)acA>acC	p.T76T	SIDT1_ENST00000393830.3_Silent_p.T76T	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	76					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGCAGGTGACAGCCGTGAGGG	0.507													C|||	101	0.0201677	0.0545	0.0086	5008	,	,		19117	0.0079		0.0099	False		,,,				2504	0.0051				p.T76T		Atlas-SNP	.											.	SIDT1	99	.	0			c.A228C						PASS	.	C		265,4141	802.1+/-415.6	10,245,1948	246	191	210		228	-11.2	0	3	dbSNP_129	210	60,8540	816.6+/-406.9	2,56,4242	no	coding-synonymous	SIDT1	NM_017699.2		12,301,6190	CC,CA,AA		0.6977,6.0145,2.4988		76/828	113285272	325,12681	2203	4300	6503	SO:0001819	synonymous_variant	54847	exon2			GGTGACAGCCGTG	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.228A>C	3.37:g.113285272A>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_017699	Q17RR4	Silent	SNP	ENST00000264852.4	37	CCDS2974.1																																																																																			A|0.978;C|0.022	0.022	strong		0.507	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		C	113285272	A	C	113285272	2	2	22	1	0	0	0	0	0	0	0	1	14302	175	7	5		5	SIDT1	3	113285272	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	291860	113285272	84737158	2184	7292										
SIDT1	54847	hgsc.bcm.edu	37	chr3	113286405	113286405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agataccagaggagctacaaCtatcaagaagtgagccgcac	10	10	1	4	rs2292511	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113286405C>T	ENST00000264852.4	+	3	1089	c.363C>T	c.(361-363)aaC>aaT	p.N121N	SIDT1_ENST00000393830.3_Silent_p.N121N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	121					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGAGCTACAACTATCAAGAAG	0.478													C|||	1617	0.322883	0.267	0.2565	5008	,	,		18650	0.5873		0.2326	False		,,,				2504	0.2658				p.N121N		Atlas-SNP	.											SIDT1,NS,carcinoma,0,1	SIDT1	99	1	0			c.C363T						PASS	.	C		1182,3224	416.7+/-337.7	158,866,1179	87	82	84		363	4.2	1	3	dbSNP_100	84	1759,6841	318.2+/-313.6	166,1427,2707	no	coding-synonymous	SIDT1	NM_017699.2		324,2293,3886	TT,TC,CC		20.4535,26.8271,22.6126		121/828	113286405	2941,10065	2203	4300	6503	SO:0001819	synonymous_variant	54847	exon3			CTACAACTATCAA	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.363C>T	3.37:g.113286405C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	131	77	0.587786	NM_017699	Q17RR4	Silent	SNP	ENST00000264852.4	37	CCDS2974.1																																																																																			C|0.717;T|0.283	0.283	strong		0.478	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113286405	C	T	113286405	2	4	22	1	0	0	0	0	0	0	0	1	14302	564	20	2		2	SIDT1	3	113286405	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1133	113286405	84736025	2185	7293										
SIDT1	54847	hgsc.bcm.edu	37	chr3	113323785	113323785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccattgctgtgttttacGcgctgcccgtgatccagctg	10	13	1	1	rs61732220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113323785G>T	ENST00000264852.4	+	14	2092	c.1366G>T	c.(1366-1368)Gcg>Tcg	p.A456S	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.A456S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	456					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTGTTTTACGCGCTGCCCGT	0.468													G|||	91	0.0181709	0.0666	0.0043	5008	,	,		15956	0.0		0.0	False		,,,				2504	0.0				p.A456S		Atlas-SNP	.											.	SIDT1	99	.	0			c.G1366T						PASS	.	G	SER/ALA	281,4125	155.2+/-188.4	10,261,1932	129	119	122		1366	5.9	1	3	dbSNP_129	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SIDT1	NM_017699.2	99	10,263,6230	TT,TG,GG		0.0233,6.3777,2.1759	benign	456/828	113323785	283,12723	2203	4300	6503	SO:0001583	missense	54847	exon14			TTTTACGCGCTGC	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1366G>T	3.37:g.113323785G>T	ENSP00000264852:p.Ala456Ser	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	34	0.015567765567765568	33	0.06707317073170732	1	0.0027624309392265192	0	0.0	0	0.0	G	15.33	2.801458	0.50315	0.063777	2.33E-4	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.21361	2.01;2.01	5.88	5.88	0.94601	.	0.090977	0.47852	D	0.000207	T	0.02193	0.0068	L	0.51914	1.62	0.80722	D	1	B;B	0.29766	0.215;0.256	B;B	0.37047	0.154;0.24	T	0.01460	-1.1349	10	0.26408	T	0.33	-3.7185	20.2441	0.98394	0.0:0.0:1.0:0.0	rs61732220	456;456	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	S	456	ENSP00000264852:A456S;ENSP00000377416:A456S	ENSP00000264852:A456S	A	+	1	0	SIDT1	114806475	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	9.697000	0.98697	2.774000	0.95407	0.655000	0.94253	GCG	G|0.981;T|0.019	0.019	strong		0.468	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113323785	G	T	113323785	3	4	22	1	0	0	0	0	1	0	0	0	14302	1087	38	4	1420	4	SIDT1	3	113323785	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37380	113323785	84698645	2186	7294										
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113379720	113379720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttaggcatgtgtgcaaaGaatgatgttggtgaggctca	13	5	1	3	rs114838141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113379720G>A	ENST00000478658.1	-	5	826	c.809C>T	c.(808-810)tCt>tTt	p.S270F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S270F			Q68DE3	K2018_HUMAN	KIAA2018	270						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTGTGCAAAGAATGATGTTG	0.413													G|||	22	0.00439297	0.0166	0.0	5008	,	,		22506	0.0		0.0	False		,,,				2504	0.0				p.S270F		Atlas-SNP	.											.	KIAA2018	180	.	0			c.C809T						PASS	.	G	PHE/SER	49,3769		0,49,1860	60	57	58		809	5.4	0.1	3	dbSNP_132	58	0,8260		0,0,4130	yes	missense	KIAA2018	NM_001009899.2	155	0,49,5990	AA,AG,GG		0.0,1.2834,0.4057	possibly-damaging	270/2246	113379720	49,12029	1909	4130	6039	SO:0001583	missense	205717	exon7			TGCAAAGAATGAT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.809C>T	3.37:g.113379720G>A	ENSP00000420721:p.Ser270Phe	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	200	78	0.39	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	12.32	1.903297	0.33628	0.012834	0.0	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17691	2.26;2.26	5.36	5.36	0.76844	.	0.360582	0.24061	N	0.041908	T	0.11281	0.0275	N	0.08118	0	0.30845	N	0.735209	D	0.76494	0.999	D	0.67231	0.95	T	0.04333	-1.0959	10	0.72032	D	0.01	-4.2876	14.9458	0.71029	0.0:0.0:0.8566:0.1433	.	270	Q68DE3	K2018_HUMAN	F	270	ENSP00000320794:S270F;ENSP00000420721:S270F	ENSP00000320794:S270F	S	-	2	0	KIAA2018	114862410	0.990000	0.36364	0.073000	0.20177	0.608000	0.37181	4.214000	0.58527	2.789000	0.95967	0.655000	0.94253	TCT	G|0.996;A|0.004	0.004	strong		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		A	113379720	G	A	113379720	3	1	22	1	0	0	0	0	1	0	0	0	8268	942	33	2	5932	2	KIAA2018	3	113379720	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55935	113379720	84642710	2187	7295										
ZDHHC23	254887	hgsc.bcm.edu	37	chr3	113673098	113673098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtctcaacaatcgcacaaCaaaggatgaccccaagggct	8	13	1	1	rs149202494		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113673098C>T	ENST00000330212.3	+	3	1012	c.713C>T	c.(712-714)aCa>aTa	p.T238I	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.T232I	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	238					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AATCGCACAACAAAGGATGAC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18066	0.0		0.0	False		,,,				2504	0.0				p.T238I		Atlas-SNP	.											.	ZDHHC23	38	.	0			c.C713T						PASS	.	C	ILE/THR	2,4404	4.2+/-10.8	0,2,2201	81	79	80		713	-1.8	0	3	dbSNP_134	80	0,8600		0,0,4300	no	missense	ZDHHC23	NM_173570.3	89	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	238/410	113673098	2,13004	2203	4300	6503	SO:0001583	missense	254887	exon3			GCACAACAAAGGA	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.713C>T	3.37:g.113673098C>T	ENSP00000330485:p.Thr238Ile	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	168	84	0.5	NM_173570	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.022	-1.410585	0.01145	4.54E-4	0.0	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.24723	1.84;1.84	5.11	-1.77	0.07982	.	1.393810	0.04616	N	0.401098	T	0.09555	0.0235	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.20519	T	0.43	-12.359	5.4023	0.16303	0.0:0.3117:0.1628:0.5255	.	238	Q8IYP9	ZDH23_HUMAN	I	238;232	ENSP00000330485:T238I;ENSP00000417840:T232I	ENSP00000330485:T238I	T	+	2	0	ZDHHC23	115155788	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.478000	0.06575	-0.376000	0.07943	-0.459000	0.05422	ACA	C|1.000;T|0.000	0.000	strong		0.597	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		T	113673098	C	T	113673098	3	4	22	1	0	0	0	0	1	0	0	0	17611	478	17	2	719	2	ZDHHC23	3	113673098	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	293378	113673098	84349332	2188	7296										
KIAA1407	57577	hgsc.bcm.edu	37	chr3	113699599	113699599	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttggctattgcttccagCtgctggttcctcttaattct	7	11	3	0	rs35546981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113699599C>G	ENST00000295878.3	-	14	2351	c.2205G>C	c.(2203-2205)caG>caC	p.Q735H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	735										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTGCTTCCAGCTGCTGGTTCC	0.363													C|||	5	0.000998403	0.003	0.0014	5008	,	,		18688	0.0		0.0	False		,,,				2504	0.0				p.Q735H		Atlas-SNP	.											.	KIAA1407	80	.	0			c.G2205C						PASS	.	C	HIS/GLN	32,4374	37.6+/-69.7	0,32,2171	170	161	164		2205	3.8	1	3	dbSNP_126	164	0,8600		0,0,4300	yes	missense	KIAA1407	NM_020817.1	24	0,32,6471	GG,GC,CC		0.0,0.7263,0.246	probably-damaging	735/937	113699599	32,12974	2203	4300	6503	SO:0001583	missense	57577	exon14			TTCCAGCTGCTGG	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2205G>C	3.37:g.113699599C>G	ENSP00000295878:p.Gln735His	Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	266	121	0.454887	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	17.30	3.354777	0.61293	0.007263	0.0	ENSG00000163617	ENST00000295878	T	0.33216	1.42	5.57	3.75	0.43078	.	0.298923	0.36932	N	0.002326	T	0.24160	0.0585	L	0.59436	1.845	0.80722	D	1	B	0.21071	0.051	B	0.21917	0.037	T	0.07693	-1.0759	10	0.56958	D	0.05	.	12.7141	0.57105	0.2994:0.7006:0.0:0.0	rs35546981	735	Q8NCU4	K1407_HUMAN	H	735	ENSP00000295878:Q735H	ENSP00000295878:Q735H	Q	-	3	2	KIAA1407	115182289	0.988000	0.35896	1.000000	0.80357	0.940000	0.58332	0.569000	0.23638	0.797000	0.33971	0.591000	0.81541	CAG	C|0.997;G|0.003	0.003	strong		0.363	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		G	113699599	C	G	113699599	3	3	22	1	0	0	0	0	1	0	0	0	8229	796	28	4	621	4	KIAA1407	3	113699599	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26501	113699599	84322831	2189	7297										
DRD3	1814	hgsc.bcm.edu	37	chr3	113890789	113890789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcacctgtggagttctcTgccccacaggtgtagttcag	12	12	2	0	rs3732783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113890789T>C	ENST00000460779.1	-	3	340	c.51A>G	c.(49-51)gcA>gcG	p.A17A	DRD3_ENST00000295881.7_Silent_p.A17A|DRD3_ENST00000467632.1_Silent_p.A17A|DRD3_ENST00000383673.2_Silent_p.A17A	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	17					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGAGTTCTCTGCCCCACAGG	0.617													C|||	490	0.0978435	0.1377	0.098	5008	,	,		14701	0.0149		0.0805	False		,,,				2504	0.1472				p.A17A		Atlas-SNP	.											.	DRD3	76	.	0			c.A51G						PASS	.	C	,	496,3910		32,432,1739	31	28	29		51,51	-3.7	0	3	dbSNP_107	29	461,8139		13,435,3852	no	coding-synonymous,coding-synonymous	DRD3	NM_000796.3,NM_033663.3	,	45,867,5591	CC,CT,TT		5.3605,11.2574,7.3581	,	17/401,17/368	113890789	957,12049	2203	4300	6503	SO:0001819	synonymous_variant	1814	exon2			GTTCTCTGCCCCA		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.51A>G	3.37:g.113890789T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	103	54	0.524272	NM_033663	A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																			T|0.920;C|0.080	0.080	strong		0.617	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		C	113890789	T	C	113890789	2	2	22	1	0	0	0	0	0	0	0	1	4758	1567	55	3		3	DRD3	3	113890789	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	191190	113890789	84131641	2190	7298										
ZNF80	7634	hgsc.bcm.edu	37	chr3	113955726	113955726	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtgaatctgctgatgtcGaacaaggaggctgtttttgt	13	5	1	2	rs79892855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113955726G>A	ENST00000482457.2	-	1	699	c.196C>T	c.(196-198)Cga>Tga	p.R66*	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	66					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGCTGATGTCGAACAAGGAGG	0.483													G|||	74	0.0147764	0.053	0.0043	5008	,	,		24200	0.0		0.0	False		,,,				2504	0.001				p.R66X	GBM(23;986 1114 21716)	Atlas-SNP	.											.	ZNF80	75	.	0			c.C196T						PASS	.	G	stop/ARG	188,4218	120.4+/-158.0	5,178,2020	105	90	95		196	-1.3	0	3	dbSNP_131	95	0,8600		0,0,4300	yes	stop-gained	ZNF80	NM_007136.3		5,178,6320	AA,AG,GG		0.0,4.2669,1.4455		66/274	113955726	188,12818	2203	4300	6503	SO:0001587	stop_gained	7634	exon1			GATGTCGAACAAG	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.196C>T	3.37:g.113955726G>A	ENSP00000417192:p.Arg66*	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_007136	Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	G	33	5.211008	0.95069	0.042669	0.0	ENSG00000174255	ENST00000482457	.	.	.	3.01	-1.33	0.09172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	0.2983	0.00269	0.2292:0.1648:0.2619:0.3441	.	.	.	.	X	66	.	ENSP00000309812:R66X	R	-	1	2	ZNF80	115438416	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.585000	0.00423	-0.318000	0.08665	-0.136000	0.14681	CGA	G|0.987;A|0.013	0.013	strong		0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		A	113955726	G	A	113955726	4	1	22	1	0	0	0	0	0	1	0	0	18165	1066	37	1	629	1	ZNF80	3	113955726	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64937	113955726	84066704	2191	7299										
ZNF80	7634	hgsc.bcm.edu	37	chr3	113955890	113955890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtgagtgcagaccatcaCctgtccccaacccatcgcgt	8	17	1	2	rs112412956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:113955890C>T	ENST00000482457.2	-	1	535	c.32G>A	c.(31-33)gGt>gAt	p.G11D	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	11					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CAGACCATCACCTGTCCCCAA	0.522													c|||	73	0.0145767	0.053	0.0043	5008	,	,		21555	0.0		0.0	False		,,,				2504	0.0				p.G11D	GBM(23;986 1114 21716)	Atlas-SNP	.											.	ZNF80	75	.	0			c.G32A						PASS	.	T	ASP/GLY	188,4218	120.8+/-158.4	5,178,2020	111	111	111		32	-0.9	0	3	dbSNP_132	111	0,8600		0,0,4300	yes	missense	ZNF80	NM_007136.3	94	5,178,6320	TT,TC,CC		0.0,4.2669,1.4455	benign	11/274	113955890	188,12818	2203	4300	6503	SO:0001583	missense	7634	exon1			CCATCACCTGTCC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.32G>A	3.37:g.113955890C>T	ENSP00000417192:p.Gly11Asp	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	153	78	0.509804	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	c	0.052	-1.246531	0.01481	0.042669	0.0	ENSG00000174255	ENST00000482457	T	0.20463	2.07	2.88	-0.868	0.10652	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.87932	D	0	.	3.3265	0.07068	0.1783:0.2377:0.0:0.5841	.	11	P51504	ZNF80_HUMAN	D	11	ENSP00000417192:G11D	ENSP00000309812:G11D	G	-	2	0	ZNF80	115438580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.250000	0.02885	-0.172000	0.10779	-2.079000	0.00380	GGT	C|0.987;T|0.013	0.013	strong		0.522	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		T	113955890	C	T	113955890	3	4	22	1	0	0	0	0	1	0	0	0	18165	507	18	2	793	2	ZNF80	3	113955890	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	164	113955890	84066540	2192	7300										
IGSF11	152404	hgsc.bcm.edu	37	chr3	118621664	118621664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactgaagtggctgactgaCtctgtgtttctatgaacttt	9	8	3	4	rs36052974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:118621664C>A	ENST00000393775.2	-	7	1304	c.999G>T	c.(997-999)gaG>gaT	p.E333D	IGSF11_ENST00000354673.2_Missense_Mutation_p.E332D|IGSF11_ENST00000425327.2_Missense_Mutation_p.E332D|IGSF11_ENST00000489689.1_Missense_Mutation_p.E309D|IGSF11_ENST00000441144.2_Missense_Mutation_p.E308D|IGSF11_ENST00000491903.1_Missense_Mutation_p.E305D	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	333			E -> D (in dbSNP:rs36052974). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16108831}.		cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGACTGACTCTGTGTTTC	0.468													C|||	1319	0.263379	0.3775	0.317	5008	,	,		20723	0.1319		0.1292	False		,,,				2504	0.3446				p.E333D		Atlas-SNP	.											.	IGSF11	122	.	0			c.G999T						PASS	.	C	ASP/GLU,ASP/GLU	1610,2796	498.1+/-364.0	298,1014,891	146	151	149		999,996	3.5	0.3	3	dbSNP_126	149	1287,7313	254.7+/-279.9	93,1101,3106	yes	missense,missense	IGSF11	NM_001015887.1,NM_152538.2	45,45	391,2115,3997	AA,AC,CC		14.9651,36.5411,22.2743	benign,benign	333/432,332/431	118621664	2897,10109	2203	4300	6503	SO:0001583	missense	152404	exon7			GACTGACTCTGTG	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.999G>T	3.37:g.118621664C>A	ENSP00000377370:p.Glu333Asp	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	195	95	0.487179	NM_001015887	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	483	0.22115384615384615	196	0.3983739837398374	110	0.30386740331491713	83	0.1451048951048951	94	0.12401055408970976	C	7.735	0.700035	0.15106	0.365411	0.149651	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83506	-0.87;-1.09;-1.73;-0.87;-1.67;-1.56	5.28	3.46	0.39613	.	0.591478	0.15720	N	0.247925	T	0.00012	0.0000	N	0.12182	0.205	0.36515	P	0.13019099999999995	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.001	B;B;B;B;B	0.11329	0.003;0.006;0.006;0.003;0.003	T	0.18524	-1.0334	9	0.13853	T	0.58	.	8.8141	0.34985	0.0:0.4972:0.4201:0.0827	rs36052974	305;308;332;309;333	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	D	332;333;309;332;308;305	ENSP00000406092:E332D;ENSP00000377370:E333D;ENSP00000420486:E309D;ENSP00000346700:E332D;ENSP00000401240:E308D;ENSP00000417413:E305D	ENSP00000346700:E332D	E	-	3	2	IGSF11	120104354	1.000000	0.71417	0.273000	0.24645	0.925000	0.55904	3.961000	0.56759	0.787000	0.33731	-0.136000	0.14681	GAG	C|0.777;A|0.223	0.223	strong		0.468	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			A	118621664	C	A	118621664	3	1	22	1	0	0	0	0	1	0	0	0	7598	564	20	4	300	4	IGSF11	3	118621664	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4665774	118621664	79400766	2193	7301										
C3orf30	152405	hgsc.bcm.edu	37	chr3	118865615	118865615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagaagagcttccgagcaGatggaccgcagaatgtctgg	15	8	1	4	rs9859242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:118865615G>C	ENST00000295622.1	+	1	619	c.579G>C	c.(577-579)caG>caC	p.Q193H	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	193			Q -> H (in dbSNP:rs9859242).							NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCCGAGCAGATGGACCGCA	0.512													G|||	113	0.0225639	0.084	0.0029	5008	,	,		22926	0.0		0.0	False		,,,				2504	0.0				p.Q193H		Atlas-SNP	.											.	C3orf30	64	.	0			c.G579C						PASS	.	G	HIS/GLN	361,4045	184.3+/-211.7	17,327,1859	97	100	99		579	2.2	0	3	dbSNP_119	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C3orf30	NM_152539.2	24	17,329,6157	CC,CG,GG		0.0233,8.1934,2.791	possibly-damaging	193/537	118865615	363,12643	2203	4300	6503	SO:0001583	missense	152405	exon1			CGAGCAGATGGAC	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.579G>C	3.37:g.118865615G>C	ENSP00000295622:p.Gln193His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	112	48	0.428571	NM_152539	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	29|29	0.013278388278388278|0.013278388278388278	28|28	0.056910569105691054|0.056910569105691054	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.18|13.18	2.160413|2.160413	0.38119|0.38119	0.081934|0.081934	2.33E-4|2.33E-4	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.26223	.|1.75	4.09|4.09	2.24|2.24	0.28232|0.28232	.|.	.|1.043520	.|0.07559	.|N	.|0.916758	T|T	0.02767|0.02767	0.0083|0.0083	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.74023	.|0.982;0.971	T|T	0.04128|0.04128	-1.0975|-1.0975	5|10	.|0.41790	.|T	.|0.15	0.0286|0.0286	6.1512|6.1512	0.20313|0.20313	0.1027:0.3712:0.5262:0.0|0.1027:0.3712:0.5262:0.0	rs9859242;rs9859242|rs9859242;rs9859242	.|193;193	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	H|H	157|193	.|ENSP00000295622:Q193H	.|ENSP00000295622:Q193H	D|Q	+|+	1|3	0|2	C3orf30|C3orf30	120348305|120348305	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.341000|-0.341000	0.07811|0.07811	0.661000|0.661000	0.30985|0.30985	0.514000|0.514000	0.50259|0.50259	GAT|CAG	G|0.977;C|0.023	0.023	strong		0.512	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		C	118865615	G	C	118865615	3	2	22	1	0	0	0	0	1	0	0	0	2220	933	33	4	581	4	C3orf30	3	118865615	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	243951	118865615	79156815	2194	7302										
ARHGAP31	57514	hgsc.bcm.edu	37	chr3	119133183	119133183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcctgctttcaaagggcGgcccggaaagagaagactca	12	11	2	2	rs3732413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119133183G>A	ENST00000264245.4	+	12	2939	c.2407G>A	c.(2407-2409)Ggc>Agc	p.G803S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	803			G -> S (in dbSNP:rs3732413). {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:15489334}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCAAAGGGCGGCCCGGAAAG	0.562													A|||	4235	0.845647	0.9266	0.755	5008	,	,		18508	0.8482		0.7853	False		,,,				2504	0.8599				p.G803S	Pancreas(7;176 297 5394 51128 51241)	Atlas-SNP	.											.	ARHGAP31	175	.	0			c.G2407A						PASS	.	A	SER/GLY	3463,305		1588,287,9	56	57	56		2407	-10.1	0	3	dbSNP_107	56	6498,1712		2565,1368,172	yes	missense	ARHGAP31	NM_020754.2	56	4153,1655,181	AA,AG,GG		20.8526,8.0945,16.8392	benign	803/1445	119133183	9961,2017	1884	4105	5989	SO:0001583	missense	57514	exon12			AAGGGCGGCCCGG		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2407G>A	3.37:g.119133183G>A	ENSP00000264245:p.Gly803Ser	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	81	80	0.987654	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	1815	0.8310439560439561	459	0.9329268292682927	273	0.7541436464088398	497	0.8688811188811189	586	0.7730870712401056	A	9.638	1.138205	0.21123	0.919055	0.791474	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05139	3.49	5.3	-10.1	0.00402	.	0.997463	0.08124	N	0.994327	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	9	0.02654	T	1	.	8.7904	0.34848	0.5801:0.0:0.1905:0.2294	rs3732413;rs17203090;rs52792832;rs57843911;rs3732413	803	Q2M1Z3	RHG31_HUMAN	S	803	ENSP00000264245:G803S	ENSP00000264245:G803S	G	+	1	0	ARHGAP31	120615873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.179000	0.01259	-3.054000	0.00259	-0.977000	0.02584	GGC	G|0.160;A|0.840	0.840	strong		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			A	119133183	G	A	119133183	3	1	22	1	0	0	0	0	1	0	0	0	880	1116	39	1	2453	1	ARHGAP31	3	119133183	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	267568	119133183	78889247	2195	7303										
C3orf1	51300	hgsc.bcm.edu	37	chr3	119222456	119222456	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagaactgcagtgtttgtGactatattcaagtaagttca	10	5	2	2	rs1131265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119222456G>C	ENST00000494664.1	+	3	640	c.438G>C	c.(436-438)gtG>gtC	p.V146V	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	146						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V146V(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGTGTTTGTGACTATATTCA	0.408													G|||	1038	0.207268	0.1747	0.0994	5008	,	,		17210	0.3562		0.164	False		,,,				2504	0.2188				p.V146V		Atlas-SNP	.											TIMMDC1,NS,carcinoma,0,1	TIMMDC1	29	1	1	Substitution - coding silent(1)	stomach(1)	c.G438C						PASS	.	G		914,3492	343.1+/-307.5	100,714,1389	79	77	77		438	3.7	1	3	dbSNP_86	77	1590,7010	285.9+/-297.4	156,1278,2866	no	coding-synonymous	TIMMDC1	NM_016589.3		256,1992,4255	CC,CG,GG		18.4884,20.7444,19.2527		146/286	119222456	2504,10502	2203	4300	6503	SO:0001819	synonymous_variant	51300	exon3			GTTTGTGACTATA	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.438G>C	3.37:g.119222456G>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_016589	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	CCDS33831.1																																																																																			G|0.795;C|0.205	0.205	strong		0.408	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		C	119222456	G	C	119222456	2	2	22	1	0	0	0	0	0	0	0	1	2206	1277	45	4		4	C3orf1	3	119222456	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89273	119222456	78799974	2196	7304										
CD80	941	hgsc.bcm.edu	37	chr3	119256187	119256187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaggctctggaaaacctCcagaggttgagcaaattatc	12	8	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119256187C>T	ENST00000264246.3	-	4	859	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.G166E|CD80_ENST00000478182.1_Missense_Mutation_p.G166E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	166	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TGGAAAACCTCCAGAGGTTGA	0.388																																					p.G166E	Melanoma(132;135 1764 1806 5833 14593)	Atlas-SNP	.											CD80,NS,malignant_melanoma,-1,1	CD80	35	1	0			c.G497A						scavenged	.						84	79	81					3																	119256187		2203	4300	6503	SO:0001583	missense	941	exon4			AAACCTCCAGAGG		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.497G>A	3.37:g.119256187C>T	ENSP00000264246:p.Gly166Glu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	139	3	0.0215827	NM_005191	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577737	0.65878	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.22336	1.96;1.96;1.96	5.23	3.3	0.37823	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270380	0.26792	N	0.022467	T	0.43590	0.1254	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.36114	-0.9761	10	0.52906	T	0.07	-18.2596	6.4559	0.21930	0.0:0.7817:0.0:0.2183	.	166;166	Q5DTB0;P33681	.;CD80_HUMAN	E	166	ENSP00000264246:G166E;ENSP00000418364:G166E;ENSP00000373165:G166E	ENSP00000264246:G166E	G	-	2	0	CD80	120738877	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.978000	0.40598	1.447000	0.47661	-0.142000	0.14014	GGA	.	.	none		0.388	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		T	119256187	C	T	119256187	3	4	22	1	0	0	0	0	1	0	0	0	3038	855	30	2	381	2	CD80	3	119256187	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33731	119256187	78766243	2197	7305										
CD80	941	hgsc.bcm.edu	37	chr3	119263607	119263607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagtcagcaccattttctTctccttttgccagtagatgc	6	12	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119263607T>C	ENST00000264246.3	-	3	570	c.208A>G	c.(208-210)Aag>Gag	p.K70E	CD80_ENST00000383668.3_Missense_Mutation_p.K70E|CD80_ENST00000383669.3_Missense_Mutation_p.K70E|CD80_ENST00000478182.1_Missense_Mutation_p.K70E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	70	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	ACCATTTTCTTCTCCTTTTGC	0.458																																					p.K70E	Melanoma(132;135 1764 1806 5833 14593)	Atlas-SNP	.											CD80,rectum,carcinoma,+2,1	CD80	35	1	0			c.A208G						scavenged	.						179	154	163					3																	119263607		2203	4300	6503	SO:0001583	missense	941	exon3			TTTTCTTCTCCTT		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.208A>G	3.37:g.119263607T>C	ENSP00000264246:p.Lys70Glu	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	308	5	0.0162338	NM_005191	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	T	8.282	0.815768	0.16607	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.13	-10.3	0.00346	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.319310	0.00824	N	0.001601	T	0.28200	0.0696	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.24043	0.035;0.05;0.096;0.096	B;B;B;B	0.26969	0.034;0.041;0.075;0.075	T	0.04855	-1.0922	10	0.19147	T	0.46	0.0323	10.4548	0.44544	0.0:0.4302:0.3977:0.172	.	70;70;70;70	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	E	70	ENSP00000264246:K70E;ENSP00000418364:K70E;ENSP00000373165:K70E;ENSP00000373164:K70E	ENSP00000264246:K70E	K	-	1	0	CD80	120746297	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.101000	0.01344	-2.110000	0.00837	-0.321000	0.08615	AAG	.	.	none		0.458	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		C	119263607	T	C	119263607	3	2	22	1	0	0	0	0	1	0	0	0	3038	1792	62	2	674	2	CD80	3	119263607	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7420	119263607	78758823	2198	7306										
ADPRH	141	hgsc.bcm.edu	37	chr3	119305169	119305169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgccatgcagctgaagccGggcaagcccaatggctggag	14	12	0	1	rs20569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119305169G>A	ENST00000478399.1	+	3	1741	c.336G>A	c.(334-336)ccG>ccA	p.P112P	ADPRH_ENST00000357003.3_Silent_p.P112P|ADPRH_ENST00000465513.1_Silent_p.P112P|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Silent_p.P112P			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	112					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGCTGAAGCCGGGCAAGCCCA	0.602													G|||	996	0.198882	0.3222	0.1239	5008	,	,		17799	0.2292		0.1382	False		,,,				2504	0.1166				p.P112P	GBM(133;579 1804 5989 9967 40052)	Atlas-SNP	.											.	ADPRH	33	.	0			c.G336A						PASS	.	G		1271,3135	422.8+/-339.9	189,893,1121	87	95	92		336	-10.6	0	3	dbSNP_67	92	1219,7381	239.0+/-270.3	79,1061,3160	no	coding-synonymous	ADPRH	NM_001125.2		268,1954,4281	AA,AG,GG		14.1744,28.847,19.145		112/358	119305169	2490,10516	2203	4300	6503	SO:0001819	synonymous_variant	141	exon4			GAAGCCGGGCAAG	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.336G>A	3.37:g.119305169G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	134	69	0.514925	NM_001125	B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	CCDS2990.1																																																																																			G|0.802;A|0.198	0.198	strong		0.602	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		A	119305169	G	A	119305169	2	1	22	1	0	0	0	0	0	0	0	1	331	1103	39	1		1	ADPRH	3	119305169	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41562	119305169	78717261	2199	7307										
PLA1A	51365	hgsc.bcm.edu	37	chr3	119327653	119327653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcctggattgacacattTattagaacccttctgcgtgc	7	12	1	2	rs1723969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119327653T>C	ENST00000273371.4	+	3	384	c.312T>C	c.(310-312)ttT>ttC	p.F104F	PLA1A_ENST00000494440.1_Silent_p.F88F|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Silent_p.F104F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	104					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGACACATTTATTAGAACCC	0.418													C|||	1706	0.340655	0.4985	0.1859	5008	,	,		21163	0.4504		0.1839	False		,,,				2504	0.2853				p.F104F		Atlas-SNP	.											.	PLA1A	65	.	0			c.T312C						PASS	.	C	,,	2034,2372	611.8+/-391.8	475,1084,644	170	171	171		312,,312	2.3	0	3	dbSNP_89	171	1713,6887	738.1+/-407.0	177,1359,2764	no	coding-synonymous,utr-5,coding-synonymous	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	,,	652,2443,3408	CC,CT,TT		19.9186,46.1643,28.8098	,,	104/441,,104/457	119327653	3747,9259	2203	4300	6503	SO:0001819	synonymous_variant	51365	exon3			CACATTTATTAGA	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.312T>C	3.37:g.119327653T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	193	193	1	NM_001206960	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	CCDS2991.1																																																																																			T|0.678;C|0.322	0.322	strong		0.418	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			C	119327653	T	C	119327653	2	2	22	1	0	0	0	0	0	0	0	1	11988	1751	61	2		2	PLA1A	3	119327653	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22484	119327653	78694777	2200	7308										
PLA1A	51365	hgsc.bcm.edu	37	chr3	119331874	119331874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcacaggcctggacccCgctggacctgagtacaccag	10	16	1	1	rs2272270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119331874C>T	ENST00000273371.4	+	5	645	c.573C>T	c.(571-573)ccC>ccT	p.P191P	PLA1A_ENST00000494440.1_Silent_p.P175P|PLA1A_ENST00000488919.1_Silent_p.P18P|PLA1A_ENST00000495992.1_Silent_p.P175P	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	191					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCTGGACCCCGCTGGACCTG	0.582													C|||	1432	0.285942	0.3487	0.1398	5008	,	,		20434	0.4484		0.16	False		,,,				2504	0.2669				p.P191P		Atlas-SNP	.											.	PLA1A	65	.	0			c.C573T						PASS	.	C	,,	1393,3013		231,931,1041	50	39	43		525,54,573	-9.7	0.5	3	dbSNP_100	43	1431,7169		114,1203,2983	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	,,	345,2134,4024	TT,TC,CC		16.6395,31.616,21.7131	,,	175/441,18/284,191/457	119331874	2824,10182	2203	4300	6503	SO:0001819	synonymous_variant	51365	exon5			GGACCCCGCTGGA	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.573C>T	3.37:g.119331874C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	71	38	0.535211	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	CCDS2991.1																																																																																			C|0.759;T|0.241	0.241	strong		0.582	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			T	119331874	C	T	119331874	2	4	22	1	0	0	0	0	0	0	0	1	11988	639	23	1		1	PLA1A	3	119331874	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4221	119331874	78690556	2201	7309										
PLA1A	51365	hgsc.bcm.edu	37	chr3	119331892	119331892	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgctggacctgagtacacCagggccagtgtggaagagcg	15	12	0	2	rs2272269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119331892C>G	ENST00000273371.4	+	5	663	c.591C>G	c.(589-591)acC>acG	p.T197T	PLA1A_ENST00000495992.1_Silent_p.T181T|PLA1A_ENST00000494440.1_Silent_p.T181T|PLA1A_ENST00000488919.1_Silent_p.T24T	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	197					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGAGTACACCAGGGCCAGTG	0.582													C|||	1542	0.307907	0.4274	0.1484	5008	,	,		20410	0.4484		0.161	False		,,,				2504	0.2658				p.T197T		Atlas-SNP	.											.	PLA1A	65	.	0			c.C591G						PASS	.	C	,,	1842,2564	510.1+/-367.4	384,1074,745	58	44	49		543,72,591	4.1	1	3	dbSNP_100	49	1443,7157	258.7+/-282.2	112,1219,2969	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	,,	496,2293,3714	GG,GC,CC		16.7791,41.8066,25.2576	,,	181/441,24/284,197/457	119331892	3285,9721	2203	4300	6503	SO:0001819	synonymous_variant	51365	exon5			GTACACCAGGGCC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.591C>G	3.37:g.119331892C>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	78	42	0.538462	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	CCDS2991.1																																																																																			C|0.730;G|0.270	0.270	strong		0.582	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			G	119331892	C	G	119331892	2	3	22	1	0	0	0	0	0	0	0	1	11988	581	21	4		4	PLA1A	3	119331892	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18	119331892	78690538	2202	7310										
PLA1A	51365	hgsc.bcm.edu	37	chr3	119336962	119336962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcctttccctgtgccaGctacaaggccttccttgctg	10	14	0	0	rs2692622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119336962G>A	ENST00000273371.4	+	7	923	c.851G>A	c.(850-852)aGc>aAc	p.S284N	PLA1A_ENST00000494440.1_Missense_Mutation_p.S268N|PLA1A_ENST00000488919.1_Missense_Mutation_p.S111N|PLA1A_ENST00000495992.1_Missense_Mutation_p.S268N	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	284			S -> N (in dbSNP:rs2692622).		lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTGTGCCAGCTACAAGGCC	0.502													G|||	238	0.047524	0.1725	0.0144	5008	,	,		20613	0.0		0.0	False		,,,				2504	0.0				p.S284N		Atlas-SNP	.											.	PLA1A	65	.	0			c.G851A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER	611,3795	267.1+/-267.6	36,539,1628	323	307	313		803,332,851	0.3	0.7	3	dbSNP_100	313	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	46,46,46	36,545,5922	AA,AG,GG		0.0698,13.8675,4.744	benign,benign,benign	268/441,111/284,284/457	119336962	617,12389	2203	4300	6503	SO:0001583	missense	51365	exon7			GTGCCAGCTACAA	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.851G>A	3.37:g.119336962G>A	ENSP00000273371:p.Ser284Asn	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	239	132	0.552301	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	71	0.03250915750915751	68	0.13821138211382114	3	0.008287292817679558	0	0.0	0	0.0	G	11.49	1.653192	0.29425	0.138675	6.98E-4	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.26	0.275	0.15659	Lipase, N-terminal (1);	0.427416	0.31268	N	0.007943	T	0.04679	0.0127	L	0.41492	1.28	0.46011	P	0.0011889999999999956	B;B	0.18013	0.005;0.025	B;B	0.20184	0.009;0.028	T	0.55611	-0.8114	9	0.56958	D	0.05	-5.9575	5.7584	0.18186	0.2197:0.2586:0.5217:0.0	rs2692622;rs52825291;rs2692622	268;284	Q53H76-3;Q53H76	.;PLA1A_HUMAN	N	284;111;268;268;150	ENSP00000273371:S284N;ENSP00000420625:S111N;ENSP00000417326:S268N;ENSP00000418793:S268N;ENSP00000417295:S150N	ENSP00000273371:S284N	S	+	2	0	PLA1A	120819652	0.995000	0.38212	0.688000	0.30117	0.454000	0.32378	0.833000	0.27504	-0.255000	0.09486	0.555000	0.69702	AGC	G|0.946;A|0.054	0.054	strong		0.502	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			A	119336962	G	A	119336962	3	1	22	1	0	0	0	0	1	0	0	0	11988	971	34	2	877	2	PLA1A	3	119336962	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5070	119336962	78685468	2203	7311										
PLA1A	51365	hgsc.bcm.edu	37	chr3	119347623	119347623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagataaaccaagtgaaattCaagtttcagtcttccaaccg	6	10	3	2	rs115172544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119347623C>A	ENST00000273371.4	+	10	1269	c.1197C>A	c.(1195-1197)ttC>ttA	p.F399L	PLA1A_ENST00000494440.1_Missense_Mutation_p.F383L|PLA1A_ENST00000488919.1_Missense_Mutation_p.F226L|PLA1A_ENST00000495992.1_Missense_Mutation_p.F383L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	399	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGTGAAATTCAAGTTTCAGT	0.468													C|||	78	0.0155751	0.0545	0.0086	5008	,	,		21512	0.0		0.0	False		,,,				2504	0.0				p.F399L		Atlas-SNP	.											.	PLA1A	65	.	0			c.C1197A						PASS	.	C	LEU/PHE,LEU/PHE,LEU/PHE	161,4245	108.2+/-146.6	4,153,2046	141	134	136		1149,678,1197	2.2	0.9	3	dbSNP_132	136	0,8600		0,0,4300	yes	missense,missense,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	22,22,22	4,153,6346	AA,AC,CC		0.0,3.6541,1.2379	benign,benign,benign	383/441,226/284,399/457	119347623	161,12845	2203	4300	6503	SO:0001583	missense	51365	exon10			GAAATTCAAGTTT	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1197C>A	3.37:g.119347623C>A	ENSP00000273371:p.Phe399Leu	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	26	0.011904761904761904	24	0.04878048780487805	2	0.0055248618784530384	0	0.0	0	0.0	C	0.008	-1.883913	0.00532	0.036541	0.0	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.90004	-2.0;-2.6;-2.04;-2.12	5.29	2.23	0.28157	.	1.028510	0.07692	N	0.938840	T	0.34687	0.0906	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45234	-0.9275	10	0.02654	T	1	-0.7164	9.9541	0.41655	0.1251:0.5238:0.3511:0.0	.	383;399	Q53H76-3;Q53H76	.;PLA1A_HUMAN	L	399;226;383;383	ENSP00000273371:F399L;ENSP00000420625:F226L;ENSP00000417326:F383L;ENSP00000418793:F383L	ENSP00000273371:F399L	F	+	3	2	PLA1A	120830313	0.945000	0.32115	0.862000	0.33874	0.035000	0.12851	0.606000	0.24194	0.590000	0.29694	-0.304000	0.09214	TTC	C|0.984;A|0.016	0.016	strong		0.468	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			A	119347623	C	A	119347623	3	1	22	1	0	0	0	0	1	0	0	0	11988	825	29	4	1235	4	PLA1A	3	119347623	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10661	119347623	78674807	2204	7312										
POPDC2	64091	hgsc.bcm.edu	37	chr3	119378872	119378872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagttaagacctgctcctcGcagcagtgaacaatctcctt	8	12	1	3	rs1880040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119378872G>A	ENST00000264231.3	-	1	565	c.399C>T	c.(397-399)tgC>tgT	p.C133C	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Silent_p.C133C|POPDC2_ENST00000493094.1_Silent_p.C133C|POPDC2_ENST00000468801.1_Silent_p.C133C	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	133					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTGCTCCTCGCAGCAGTGAA	0.572													G|||	2008	0.400958	0.2912	0.4611	5008	,	,		21497	0.3323		0.4304	False		,,,				2504	0.547				p.C133C		Atlas-SNP	.											.	POPDC2	36	.	0			c.C399T						PASS	.	G		1394,3012	457.5+/-351.6	223,948,1032	150	144	146		399	-2.1	0.4	3	dbSNP_92	146	3806,4794	538.3+/-383.4	840,2126,1334	no	coding-synonymous	POPDC2	NM_022135.2		1063,3074,2366	AA,AG,GG		44.2558,31.6387,39.9815		133/365	119378872	5200,7806	2203	4300	6503	SO:0001819	synonymous_variant	64091	exon1			CTCCTCGCAGCAG	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.399C>T	3.37:g.119378872G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	149	63	0.422819	NM_022135	Q86UE7	Silent	SNP	ENST00000264231.3	37	CCDS2992.1																																																																																			G|0.616;A|0.384	0.384	strong		0.572	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		A	119378872	G	A	119378872	2	1	22	1	0	0	0	0	0	0	0	1	12255	1079	38	1		1	POPDC2	3	119378872	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31249	119378872	78643558	2205	7313										
POPDC2	64091	hgsc.bcm.edu	37	chr3	119379186	119379186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagttggctaggtggtagaCagccccttccacatcctgct	11	13	0	1	rs4688023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119379186C>T	ENST00000264231.3	-	1	251	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Missense_Mutation_p.V29I|POPDC2_ENST00000493094.1_Missense_Mutation_p.V29I|POPDC2_ENST00000468801.1_Missense_Mutation_p.V29I	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	29			V -> I (in dbSNP:rs4688023).		regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGGTGGTAGACAGCCCCTTCC	0.557													C|||	2012	0.401757	0.2935	0.4611	5008	,	,		15446	0.3323		0.4304	False		,,,				2504	0.5481				p.V29I		Atlas-SNP	.											.	POPDC2	36	.	0			c.G85A						PASS	.	C	ILE/VAL	1404,3002	459.6+/-352.3	226,952,1025	89	83	85		85	-5.6	0.5	3	dbSNP_111	85	3806,4794	537.6+/-383.2	840,2126,1334	yes	missense	POPDC2	NM_022135.2	29	1066,3078,2359	TT,TC,CC		44.2558,31.8656,40.0584	benign	29/365	119379186	5210,7796	2203	4300	6503	SO:0001583	missense	64091	exon1			GGTAGACAGCCCC	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.85G>A	3.37:g.119379186C>T	ENSP00000264231:p.Val29Ile	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_022135	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	820	0.37545787545787546	130	0.26422764227642276	170	0.4696132596685083	197	0.34440559440559443	323	0.4261213720316623	C	1.924	-0.447524	0.04572	0.318656	0.442558	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.66	-5.63	0.02474	.	1.223450	0.05589	N	0.574411	T	0.00012	0.0000	N	0.25060	0.705	0.40670	P	0.017796000000000034	B;B	0.18166	0.026;0.009	B;B	0.16289	0.015;0.01	T	0.42050	-0.9474	9	0.06236	T	0.91	.	10.9218	0.47169	0.1494:0.2332:0.5606:0.0568	rs4688023;rs52810037;rs59425816;rs4688023	29;29	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	I	29	ENSP00000264231:V29I;ENSP00000417250:V29I;ENSP00000420715:V29I;ENSP00000438271:V29I	ENSP00000264231:V29I	V	-	1	0	POPDC2	120861876	0.000000	0.05858	0.478000	0.27316	0.573000	0.36030	-0.433000	0.06948	-0.985000	0.03503	-0.309000	0.09137	GTC	C|0.615;T|0.385	0.385	strong		0.557	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		T	119379186	C	T	119379186	3	4	22	1	0	0	0	0	1	0	0	0	12255	478	17	2	1025	2	POPDC2	3	119379186	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	314	119379186	78643244	2206	7314										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119421963	119421963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatgagccacgcagtaacCatcgaggagccccaggccca	10	16	0	1	rs7612861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119421963C>T	ENST00000273390.5	+	1	95	c.18C>T	c.(16-18)acC>acT	p.T6T	MAATS1_ENST00000463700.1_Silent_p.T6T	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	6						mitochondrion (GO:0005739)											ACGCAGTAACCATCGAGGAGC	0.642													C|||	917	0.183107	0.1672	0.2392	5008	,	,		12639	0.1825		0.1461	False		,,,				2504	0.2035				p.T6T		Atlas-SNP	.											C3orf15,NS,carcinoma,0,1	.	.	1	0			c.C18T						PASS	.	C		780,3598		63,654,1472	27	31	30		18	-0.2	0.3	3	dbSNP_116	30	1036,7524		52,932,3296	no	coding-synonymous	C3orf15	NM_033364.3		115,1586,4768	TT,TC,CC		12.1028,17.8164,14.0362		6/768	119421963	1816,11122	2189	4280	6469	SO:0001819	synonymous_variant	89876	exon1			AGTAACCATCGAG	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.18C>T	3.37:g.119421963C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	122	55	0.45082	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	CCDS2994.1																																																																																			C|0.824;T|0.176	0.176	strong		0.642	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		T	119421963	C	T	119421963	2	4	22	1	0	0	0	0	0	0	0	1	2209	581	21	2		2	C3orf15	3	119421963	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42777	119421963	78600467	2207	7315										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119445092	119445092	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagcgtgcttgggaagccTctctccccgctctgagtgac	12	13	2	3	rs9817771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119445092T>A	ENST00000273390.5	+	7	834	c.757T>A	c.(757-759)Tct>Act	p.S253T		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	253			S -> T (in dbSNP:rs9817771).			mitochondrion (GO:0005739)											TTGGGAAGCCTCTCTCCCCGC	0.542													A|||	70	0.0139776	0.0514	0.0014	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.001				p.S253T		Atlas-SNP	.											.	.	.	.	0			c.T757A						PASS	.	A	THR/SER	209,4197	807.3+/-415.9	3,203,1997	57	55	56		757	4.4	0.8	3	dbSNP_119	56	4,8596	819.2+/-406.8	1,2,4297	yes	missense	C3orf15	NM_033364.3	58	4,205,6294	AA,AT,TT		0.0465,4.7435,1.6377	benign	253/768	119445092	213,12793	2203	4300	6503	SO:0001583	missense	89876	exon7			GAAGCCTCTCTCC	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.757T>A	3.37:g.119445092T>A	ENSP00000273390:p.Ser253Thr	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	111	56	0.504505	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	A	1.705	-0.500484	0.04291	0.047435	4.65E-4	ENSG00000183833	ENST00000273390	T	0.23147	1.92	5.62	4.44	0.53790	.	0.293168	0.41938	N	0.000789	T	0.00815	0.0027	N	0.00630	-1.315	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.0;0.0	T	0.26430	-1.0103	10	0.02654	T	1	-7.7599	5.0067	0.14291	0.6979:0.1217:0.0641:0.1163	rs9817771;rs52835037;rs9817771	253;14;191;253;253	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	T	253	ENSP00000273390:S253T	ENSP00000273390:S253T	S	+	1	0	C3orf15	120927782	1.000000	0.71417	0.839000	0.33178	0.385000	0.30292	3.898000	0.56281	0.484000	0.27630	-0.265000	0.10407	TCT	T|0.984;A|0.016	0.016	strong		0.542	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119445092	T	A	119445092	3	1	22	1	0	0	0	0	1	0	0	0	2209	1551	54	5	783	5	C3orf15	3	119445092	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23129	119445092	78577338	2208	7316										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119445139	119445139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttgagaagaggaggaaAatgatgaatgaaatggagag	15	1	0	6	rs9835381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119445139A>G	ENST00000273390.5	+	7	881	c.804A>G	c.(802-804)aaA>aaG	p.K268K		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	268						mitochondrion (GO:0005739)											AGAGGAGGAAAATGATGAATG	0.517													G|||	70	0.0139776	0.0514	0.0014	5008	,	,		19708	0.0		0.0	False		,,,				2504	0.001				p.K268K		Atlas-SNP	.											.	.	.	.	0			c.A804G						PASS	.	G		209,4197	807.1+/-415.9	3,203,1997	69	67	67		804	4.6	1	3	dbSNP_119	67	4,8596	819.0+/-406.8	1,2,4297	no	coding-synonymous	C3orf15	NM_033364.3		4,205,6294	GG,GA,AA		0.0465,4.7435,1.6377		268/768	119445139	213,12793	2203	4300	6503	SO:0001819	synonymous_variant	89876	exon7			GAGGAAAATGATG	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.804A>G	3.37:g.119445139A>G		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	131	62	0.473282	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	CCDS2994.1																																																																																			A|0.983;G|0.017	0.017	strong		0.517	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		G	119445139	A	G	119445139	2	3	22	1	0	0	0	0	0	0	0	1	2209	11	1	2		2	C3orf15	3	119445139	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47	119445139	78577291	2209	7317										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119449159	119449159	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaagcacttgaatgcccGgtggtctaaactgcaggagg					rs61742290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119449159G>A	ENST00000273390.5	+	8	1030	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	318						mitochondrion (GO:0005739)											TTGAATGCCCGGTGGTCTAAA	0.438													G|||	23	0.00459265	0.0151	0.0043	5008	,	,		19286	0.0		0.0	False		,,,				2504	0.0				p.R318Q		Atlas-SNP	.											C3orf15,NS,carcinoma,+1,2	.	.	2	0			c.G953A						PASS	.	G	GLN/ARG	62,4344	58.7+/-95.3	0,62,2141	193	196	195		953	1.5	1	3	dbSNP_129	195	0,8600		0,0,4300	yes	missense	C3orf15	NM_033364.3	43	0,62,6441	AA,AG,GG		0.0,1.4072,0.4767	benign	318/768	119449159	62,12944	2203	4300	6503	SO:0001583	missense	89876	exon8			ATGCCCGGTGGTC	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.953G>A	3.37:g.119449159G>A	ENSP00000273390:p.Arg318Gln	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	131	69	0.526718	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	G	6.250	0.414169	0.11870	0.014072	0.0	ENSG00000183833	ENST00000273390	T	0.21734	1.99	5.2	1.55	0.23275	.	0.711873	0.14769	N	0.299528	T	0.05410	0.0143	N	0.04636	-0.2	0.80722	D	1	B;B;B;B;B	0.19935	0.008;0.04;0.012;0.019;0.005	B;B;B;B;B	0.12156	0.004;0.003;0.007;0.005;0.003	T	0.27297	-1.0078	10	0.12430	T	0.62	-20.1193	8.0697	0.30682	0.6841:0.0:0.3159:0.0	rs61742290	318;79;256;318;318	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	Q	318	ENSP00000273390:R318Q	ENSP00000273390:R318Q	R	+	2	0	C3orf15	120931849	0.005000	0.15991	0.967000	0.41034	0.762000	0.43233	0.707000	0.25704	0.382000	0.24878	-0.484000	0.04775	CGG	G|0.995;A|0.005	0.005	strong		0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119449159	G	A	119449159	3	1	22	1	0	0	0	0	1	0	0	0	2209	1116	39	1	983	1	C3orf15	3	119449159	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4020	119449159	78573271	2210	7318	144	2								
C3orf15	89876	hgsc.bcm.edu	37	chr3	119449165	119449165	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacttgaatgcccggtggtCtaaactgcaggagggaaaag					rs9819218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119449165C>G	ENST00000273390.5	+	8	1036	c.959C>G	c.(958-960)tCt>tGt	p.S320C		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	320			S -> C (in dbSNP:rs9819218).			mitochondrion (GO:0005739)											GCCCGGTGGTCTAAACTGCAG	0.443													C|||	68	0.0135783	0.0507	0.0014	5008	,	,		19022	0.0		0.0	False		,,,				2504	0.0				p.S320C		Atlas-SNP	.											.	.	.	.	0			c.C959G						PASS	.	C	CYS/SER	201,4205	126.1+/-163.2	3,195,2005	197	200	199		959	0	0.7	3	dbSNP_119	199	4,8596	1.2+/-3.3	1,2,4297	yes	missense	C3orf15	NM_033364.3	112	4,197,6302	GG,GC,CC		0.0465,4.562,1.5762	benign	320/768	119449165	205,12801	2203	4300	6503	SO:0001583	missense	89876	exon8			GGTGGTCTAAACT	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.959C>G	3.37:g.119449165C>G	ENSP00000273390:p.Ser320Cys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	127	63	0.496063	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	C	10.39	1.336987	0.24253	0.04562	4.65E-4	ENSG00000183833	ENST00000273390	T	0.24723	1.84	5.2	0.0316	0.14171	.	0.702681	0.14937	N	0.289762	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.20887	0.049;0.016;0.02;0.006;0.005	B;B;B;B;B	0.28232	0.087;0.032;0.036;0.009;0.004	T	0.21552	-1.0242	10	0.45353	T	0.12	-11.3776	1.5557	0.02584	0.26:0.3334:0.2513:0.1553	rs9819218;rs56635541;rs9819218	320;81;258;320;320	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	C	320	ENSP00000273390:S320C	ENSP00000273390:S320C	S	+	2	0	C3orf15	120931855	0.002000	0.14202	0.668000	0.29813	0.882000	0.50991	0.021000	0.13489	0.001000	0.14605	-0.259000	0.10710	TCT	C|0.982;G|0.018	0.018	strong		0.443	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		G	119449165	C	G	119449165	3	3	22	1	0	0	0	0	1	0	0	0	2209	913	32	4	989	4	C3orf15	3	119449165	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	119449165	78573265	2211	7319	144	2								
C3orf15	89876	hgsc.bcm.edu	37	chr3	119466025	119466025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acataatactgaataccgaaGcgaatactgcagaagaacaa	7	8	0	3	rs9853426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119466025G>A	ENST00000273390.5	+	15	2043	c.1966G>A	c.(1966-1968)Gcg>Acg	p.A656T	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	492						mitochondrion (GO:0005739)											GAATACCGAAGCGAATACTGC	0.388													G|||	71	0.0141773	0.0522	0.0014	5008	,	,		20049	0.0		0.0	False		,,,				2504	0.001				p.A656T		Atlas-SNP	.											.	.	.	.	0			c.G1966A						PASS	.	G	THR/ALA	210,4196	129.8+/-166.5	3,204,1996	112	105	107		1966	5.5	1	3	dbSNP_119	107	4,8596	1.2+/-3.3	1,2,4297	yes	missense	C3orf15	NM_033364.3	58	4,206,6293	AA,AG,GG		0.0465,4.7662,1.6454	benign	656/768	119466025	214,12792	2203	4300	6503	SO:0001583	missense	89876	exon15			ACCGAAGCGAATA	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1966G>A	3.37:g.119466025G>A	ENSP00000273390:p.Ala656Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	146	75	0.513699	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	G	14.23	2.472805	0.43942	0.047662	4.65E-4	ENSG00000183833	ENST00000273390	T	0.22743	1.94	5.47	5.47	0.80525	.	0.170071	0.51477	D	0.000100	T	0.03136	0.0092	L	0.29908	0.895	0.80722	D	1	B;B;B	0.23990	0.095;0.055;0.095	B;B;B	0.26416	0.051;0.048;0.069	T	0.02519	-1.1147	10	0.42905	T	0.14	-11.3258	19.3267	0.94265	0.0:0.0:1.0:0.0	rs9853426;rs52829415;rs9853426	492;594;656	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	T	656	ENSP00000273390:A656T	ENSP00000273390:A656T	A	+	1	0	C3orf15	120948715	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	7.014000	0.76380	2.565000	0.86533	0.591000	0.81541	GCG	G|0.983;A|0.017	0.017	strong		0.388	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119466025	G	A	119466025	3	1	22	1	0	0	0	0	1	0	0	0	2209	971	34	2	2024	2	C3orf15	3	119466025	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16860	119466025	78556405	2212	7320										
NR1I2	8856	hgsc.bcm.edu	37	chr3	119530546	119530546	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgaaaacctttgacacTaccttctcccatttcaagaa	4	12	2	4	rs12721611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119530546T>C	ENST00000337940.4	+	4	657	c.609T>C	c.(607-609)acT>acC	p.T203T	NR1I2_ENST00000466380.1_Silent_p.T164T|NR1I2_ENST00000393716.2_Silent_p.T164T	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	164	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CCTTTGACACTACCTTCTCCC	0.527													T|||	76	0.0151757	0.0545	0.0058	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0				p.T203T		Atlas-SNP	.											.	NR1I2	44	.	0			c.T609C						PASS	.	T	,,	232,4174	136.5+/-172.5	3,226,1974	110	97	101		492,609,492	3	1	3	dbSNP_126	101	6,8594	2.2+/-6.3	1,4,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	,,	4,230,6269	CC,CT,TT		0.0698,5.2655,1.8299	,,	164/435,203/474,164/398	119530546	238,12768	2203	4300	6503	SO:0001819	synonymous_variant	8856	exon4			TGACACTACCTTC	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.609T>C	3.37:g.119530546T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	89	48	0.539326	NM_022002	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	CCDS2995.1																																																																																			T|0.981;C|0.019	0.019	strong		0.527	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			C	119530546	T	C	119530546	2	2	22	1	0	0	0	0	0	0	0	1	10620	1509	53	3		3	NR1I2	3	119530546	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	64521	119530546	78491884	2213	7321										
GSK3B	2932	hgsc.bcm.edu	37	chr3	119720980	119720980	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatataccacaccaaatgaTccatttccaatcactttagt	3	11	1	2	rs34002644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:119720980T>A	ENST00000264235.8	-	2	1177	c.195A>T	c.(193-195)ggA>ggT	p.G65G	GSK3B_ENST00000316626.5_Silent_p.G65G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CACCAAATGATCCATTTCCAA	0.463													T|||	328	0.0654952	0.2315	0.0159	5008	,	,		14337	0.006		0.001	False		,,,				2504	0.0041				p.G65G		Atlas-SNP	.											GSK3B_ENST00000316626,colon,carcinoma,-1,2	GSK3B	119	2	0			c.A195T						PASS	.	T	,	882,3524	343.1+/-307.5	79,724,1400	244	229	234		195,195	0.4	1	3	dbSNP_126	234	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous	GSK3B	NM_001146156.1,NM_002093.3	,	79,731,5693	AA,AT,TT		0.0814,20.0182,6.8353	,	65/421,65/434	119720980	889,12117	2203	4300	6503	SO:0001819	synonymous_variant	2932	exon2			AAATGATCCATTT	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.195A>T	3.37:g.119720980T>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	127	59	0.464567	NM_002093	D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	CCDS54628.1																																																																																			T|0.938;A|0.062	0.062	strong		0.463	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			A	119720980	T	A	119720980	2	1	22	1	0	0	0	0	0	0	0	1	6824	1422	50	5		5	GSK3B	3	119720980	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	190434	119720980	78301450	2214	7322										
POLQ	10721	hgsc.bcm.edu	37	chr3	121154974	121154974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctatgaacaaacctgttTggtcactttggagcataccc	7	11	2	1	rs1381057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121154974T>C	ENST00000264233.5	-	28	7666	c.7538A>G	c.(7537-7539)cAa>cGa	p.Q2513R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2513				Q -> R (in Ref. 1; AAC33565 and 2; AAR08421). {ECO:0000305}.	ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAACCTGTTTGGTCACTTTG	0.368								DNA polymerases (catalytic subunits)					C|||	3732	0.745208	0.6309	0.6945	5008	,	,		20710	0.877		0.668	False		,,,				2504	0.8793				p.Q2513R	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.A7538G						PASS	.	C	ARG/GLN	2840,1566	490.3+/-361.7	924,992,287	190	171	177		7538	-0.3	0	3	dbSNP_88	177	5869,2731	436.2+/-358.2	2002,1865,433	yes	missense	POLQ	NM_199420.3	43	2926,2857,720	CC,CT,TT		31.7558,35.5424,33.0386	benign	2513/2591	121154974	8709,4297	2203	4300	6503	SO:0001583	missense	10721	exon28			CCTGTTTGGTCAC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7538A>G	3.37:g.121154974T>C	ENSP00000264233:p.Gln2513Arg	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	225	115	0.511111	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	1562	0.7152014652014652	300	0.6097560975609756	250	0.6906077348066298	511	0.8933566433566433	501	0.6609498680738787	C	1.151	-0.646621	0.03531	0.644576	0.682442	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47177	0.85	5.81	-0.307	0.12777	DNA-directed DNA polymerase, family A, palm domain (2);	0.799731	0.11667	N	0.541194	T	0.00012	0.0000	N	0.04959	-0.14	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38607	-0.9653	9	0.02654	T	1	.	7.6272	0.28218	0.0:0.4356:0.1049:0.4595	rs1381057;rs17481360;rs52804123;rs1381057	2513;1685	O75417;O75417-2	DPOLQ_HUMAN;.	R	2136;2513;2649	ENSP00000264233:Q2513R	ENSP00000264233:Q2513R	Q	-	2	0	POLQ	122637664	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.473000	0.06615	-0.673000	0.05259	-0.941000	0.02677	CAA	T|0.298;C|0.702	0.702	strong		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121154974	T	C	121154974	3	2	22	1	0	0	0	0	1	0	0	0	12208	1812	63	2	246	2	POLQ	3	121154974	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1433994	121154974	76867456	2215	7323										
POLQ	10721	hgsc.bcm.edu	37	chr3	121207083	121207083	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccaaagcttcaaccatCtgaacagaatccatttctga	5	11	3	3	rs3218639	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121207083C>A	ENST00000264233.5	-	16	4823	c.4695G>T	c.(4693-4695)caG>caT	p.Q1565H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1565					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTCAACCATCTGAACAGAAT	0.338								DNA polymerases (catalytic subunits)					C|||	23	0.00459265	0.0159	0.0029	5008	,	,		20878	0.0		0.0	False		,,,				2504	0.0				p.Q1565H	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.G4695T						PASS	.	C	HIS/GLN	75,4331	65.8+/-103.3	1,73,2129	73	72	73		4695	5.3	1	3	dbSNP_106	73	0,8600		0,0,4300	yes	missense	POLQ	NM_199420.3	24	1,73,6429	AA,AC,CC		0.0,1.7022,0.5767	probably-damaging	1565/2591	121207083	75,12931	2203	4300	6503	SO:0001583	missense	10721	exon16			AACCATCTGAACA	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4695G>T	3.37:g.121207083C>A	ENSP00000264233:p.Gln1565His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	57	24	0.421053	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.28	2.488609	0.44249	0.017022	0.0	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.57436	0.4	6.17	5.3	0.74995	.	0.354292	0.29205	N	0.012838	T	0.41880	0.1178	L	0.36672	1.1	0.26824	N	0.968735	D;P	0.71674	0.998;0.865	D;B	0.66084	0.941;0.391	T	0.46190	-0.9209	10	0.48119	T	0.1	.	8.7602	0.34669	0.0:0.6832:0.1822:0.1345	rs3218639;rs52804917;rs3218639	1565;737	O75417;O75417-2	DPOLQ_HUMAN;.	H	1188;1565;1701	ENSP00000264233:Q1565H	ENSP00000264233:Q1565H	Q	-	3	2	POLQ	122689773	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	1.322000	0.33689	1.632000	0.50472	-0.140000	0.14226	CAG	C|0.993;A|0.007	0.007	strong		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121207083	C	A	121207083	3	1	22	1	0	0	0	0	1	0	0	0	12208	912	32	4	3137	4	POLQ	3	121207083	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52109	121207083	76815347	2216	7324										
POLQ	10721	hgsc.bcm.edu	37	chr3	121251924	121251924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttttactgactccaaaagCggtacagggcgaaagtcggt	11	9	0	1	rs41390550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121251924C>T	ENST00000264233.5	-	6	1001	c.873G>A	c.(871-873)ccG>ccA	p.P291P	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	291					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTCCAAAAGCGGTACAGGGC	0.428								DNA polymerases (catalytic subunits)					C|||	107	0.0213658	0.0749	0.0115	5008	,	,		17115	0.0		0.0	False		,,,				2504	0.0				p.P291P	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.G873A						PASS	.	C		267,4139	152.5+/-186.2	7,253,1943	94	93	93		873	0.1	1	3	dbSNP_127	93	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	POLQ	NM_199420.3		7,257,6239	TT,TC,CC		0.0465,6.0599,2.0837		291/2591	121251924	271,12735	2203	4300	6503	SO:0001819	synonymous_variant	10721	exon6			CAAAAGCGGTACA	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.873G>A	3.37:g.121251924C>T		Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	260	117	0.45	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																			C|0.982;T|0.018	0.018	strong		0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		T	121251924	C	T	121251924	2	4	22	1	0	0	0	0	0	0	0	1	12208	755	27	1		1	POLQ	3	121251924	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44841	121251924	76770506	2217	7325										
HCLS1	3059	hgsc.bcm.edu	37	chr3	121351315	121351316	+	In_Frame_Ins	INS	-	-	GGCTCAGGCTCA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctcgggctcaggctcgINSggctcaggctcaggctctgc					rs150627065|rs372720825|rs80289672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121351315_121351316insGGCTCAGGCTCA	ENST00000314583.3	-	12	1194_1195	c.1103_1104insTGAGCCTGAGCC	c.(1102-1104)ccc>ccTGAGCCTGAGCCc	p.368_368P>PEPEP	HCLS1_ENST00000428394.2_In_Frame_Ins_p.331_331P>PEPEP|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gctcaggctcgggctcaggctc	0.604														1208	0.241214	0.1573	0.1599	5008	,	,		14710	0.4563		0.2485	False		,,,				2504	0.183				p.P368delinsPEPEP		Pindel,Atlas-Indel	.											HCLS1,caecum,carcinoma,0,1	HCLS1	78	1	0			c.1104_1105insTGAGCCTGAGCC	GRCh37	CI045897	HCLS1	I	rs80289672	PASS	.																																			SO:0001652	inframe_insertion	3059	exon12			.		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1092_1103dupTGAGCCTGAGCC	3.37:g.121351315_121351316insGGCTCAGGCTCA	ENSP00000320176:p.GluProGluPro372dup	Somatic	122	.	.		WXS	Illumina HiSeq	Phase_I	137	26	0.19	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	In_Frame_Ins	INS	ENST00000314583.3	37	CCDS3003.1																																																																																			-|0.731;GGCTCAGGCTCA|0.269	0.269	strong		0.604	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		GGCTCAGGCTCA	121351316	-	GGCTCAGGCTCA	121351315	7	5	22	1	0	1	1	0	0	0	0	0	6995	1103	39	0	368	0	HCLS1	3	121351315	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	99391	121351315	76671115	2218	7326										
HCLS1	3059	hgsc.bcm.edu	37	chr3	121361787	121361787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgcctttctgagatgtGtgcttctccacttctccttt	6	13	3	1	rs2070178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121361787G>A	ENST00000314583.3	-	6	532	c.441C>T	c.(439-441)caC>caT	p.H147H	HCLS1_ENST00000428394.2_Silent_p.H147H|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	147					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGAGATGTGTGCTTCTCCA	0.473													G|||	1157	0.23103	0.1838	0.1744	5008	,	,		19684	0.2768		0.2197	False		,,,				2504	0.2996				p.H147H		Atlas-SNP	.											.	HCLS1	78	.	0			c.C441T						PASS	.	G		924,3482	354.9+/-312.8	94,736,1373	198	197	198		441	1.7	0.2	3	dbSNP_96	198	1959,6641	345.6+/-325.8	234,1491,2575	no	coding-synonymous	HCLS1	NM_005335.4		328,2227,3948	AA,AG,GG		22.7791,20.9714,22.1667		147/487	121361787	2883,10123	2203	4300	6503	SO:0001819	synonymous_variant	3059	exon6			AGATGTGTGCTTC		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.441C>T	3.37:g.121361787G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																			G|0.772;A|0.228	0.228	strong		0.473	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		A	121361787	G	A	121361787	2	1	22	1	0	0	0	0	0	0	0	1	6995	1368	48	2		2	HCLS1	3	121361787	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10472	121361787	76660643	2219	7327										
GOLGB1	2804	hgsc.bcm.edu	37	chr3	121414061	121414061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcttgtttagatacattaCcttctatctgatgctttaaa	5	7	2	2	rs1127412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121414061C>T	ENST00000340645.5	-	13	5419	c.5294G>A	c.(5293-5295)gGt>gAt	p.G1765D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.G1770D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1765			G -> D (in dbSNP:rs1127412). {ECO:0000269|PubMed:18487259, ECO:0000269|PubMed:7511208, ECO:0000269|PubMed:8198703}.		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)		AGATACATTACCTTCTATCTG	0.383													C|||	1253	0.2502	0.1649	0.1614	5008	,	,		23338	0.4841		0.2515	False		,,,				2504	0.1861				p.G1770D		Atlas-SNP	.											.	GOLGB1	319	.	0			c.G5309A						PASS	.	C	ASP/GLY	708,3698	292.7+/-282.2	54,600,1549	259	242	248		5294	-9.9	0	3	dbSNP_86	248	2114,6486	365.4+/-333.9	278,1558,2464	yes	missense	GOLGB1	NM_004487.3	94	332,2158,4013	TT,TC,CC		24.5814,16.069,21.6977	benign	1765/3260	121414061	2822,10184	2203	4300	6503	SO:0001583	missense	2804	exon13			ACATTACCTTCTA	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.5294G>A	3.37:g.121414061C>T	ENSP00000341848:p.Gly1765Asp	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	271	138	0.509225	NM_001256486	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	610	0.2793040293040293	79	0.16056910569105692	71	0.19613259668508287	267	0.46678321678321677	193	0.2546174142480211	C	1.818	-0.473049	0.04445	0.16069	0.245814	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13089	2.62;2.62	5.8	-9.92	0.00455	.	2.277780	0.01577	N	0.020871	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44267	-0.9339	9	0.15066	T	0.55	.	1.5861	0.02644	0.1697:0.1956:0.1763:0.4583	rs1127412;rs52834346;rs56608721;rs1127412	1690;1770;1765	F1T0J2;E7EP74;Q14789	.;.;GOGB1_HUMAN	D	1765;1770	ENSP00000341848:G1765D;ENSP00000377275:G1770D	ENSP00000341848:G1765D	G	-	2	0	GOLGB1	122896751	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.790000	0.04604	-1.808000	0.01234	-0.311000	0.09066	GGT	C|0.760;T|0.240	0.240	strong		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121414061	C	T	121414061	3	4	22	1	0	0	0	0	1	0	0	0	6565	507	18	2	4525	2	GOLGB1	3	121414061	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52274	121414061	76608369	2220	7328										
EAF2	55840	hgsc.bcm.edu	37	chr3	121563355	121563355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggataccttgaggttggTgaaggtgaacaggtgaccat	15	5	0	4	rs9884018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121563355T>C	ENST00000273668.2	+	2	233	c.162T>C	c.(160-162)ggT>ggC	p.G54G	EAF2_ENST00000451944.2_Silent_p.G54G	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	54	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G54G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTGAGGTTGGTGAAGGTGAAC	0.323													T|||	1233	0.246206	0.1339	0.1455	5008	,	,		16668	0.6161		0.1382	False		,,,				2504	0.1994				p.G54G	Esophageal Squamous(194;1942 2097 24663 29345 31866)	Atlas-SNP	.											EAF2,NS,carcinoma,0,1	EAF2	26	1	1	Substitution - coding silent(1)	prostate(1)	c.T162C						PASS	.	T		715,3691	299.3+/-285.7	70,575,1558	125	129	128		162	3.3	1	3	dbSNP_119	128	1184,7416	241.5+/-271.8	85,1014,3201	no	coding-synonymous	EAF2	NM_018456.4		155,1589,4759	CC,CT,TT		13.7674,16.2279,14.601		54/261	121563355	1899,11107	2203	4300	6503	SO:0001819	synonymous_variant	55840	exon2			GGTTGGTGAAGGT	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.162T>C	3.37:g.121563355T>C		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	209	111	0.5311	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																			T|0.799;C|0.201	0.201	strong		0.323	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		C	121563355	T	C	121563355	2	2	22	1	0	0	0	0	0	0	0	1	4876	1683	59	2		2	EAF2	3	121563355	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	149294	121563355	76459075	2221	7329										
ILDR1	286676	hgsc.bcm.edu	37	chr3	121712098	121712098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgggccagtgtggggagtGcgagccgcggcggtgggccc	21	12	0	0	rs34284625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121712098G>A	ENST00000344209.5	-	7	1624	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y	ILDR1_ENST00000462014.1_Missense_Mutation_p.H468Y|ILDR1_ENST00000273691.3_Missense_Mutation_p.H456Y|ILDR1_ENST00000393631.1_Missense_Mutation_p.H411Y|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	500					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGTGGGGAGTGCGAGCCGCGG	0.632													G|||	201	0.0401358	0.1445	0.0144	5008	,	,		15335	0.0		0.0	False		,,,				2504	0.0				p.H500Y		Atlas-SNP	.											.	ILDR1	120	.	0			c.C1498T						PASS	.	G	TYR/HIS,TYR/HIS,TYR/HIS	520,3882		26,468,1707	23	24	24		1498,1231,1366	4	0	3	dbSNP_126	24	8,8590		0,8,4291	yes	missense,missense,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	83,83,83	26,476,5998	AA,AG,GG		0.093,11.8128,4.0615	benign,benign,benign	500/547,411/458,456/503	121712098	528,12472	2201	4299	6500	SO:0001583	missense	286676	exon7			GGGAGTGCGAGCC	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1498C>T	3.37:g.121712098G>A	ENSP00000345667:p.His500Tyr	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	173	81	0.468208	NM_001199799	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	78	0.03571428571428571	74	0.15040650406504066	4	0.011049723756906077	0	0.0	0	0.0	G	11.04	1.522102	0.27211	0.118128	9.3E-4	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.76709	-0.44;-0.44;-1.04;-0.04	5.76	3.99	0.46301	.	1.592350	0.03082	N	0.158662	T	0.00784	0.0026	N	0.22421	0.69	0.80722	P	0.0	B;B;B;B	0.32620	0.378;0.165;0.378;0.378	B;B;B;B	0.28849	0.095;0.044;0.095;0.095	T	0.22661	-1.0210	9	0.56958	D	0.05	-1.8466	11.555	0.50741	0.1185:0.0:0.8815:0.0	rs34284625	411;500;456;468	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	Y	456;500;411;468	ENSP00000273691:H456Y;ENSP00000345667:H500Y;ENSP00000377251:H411Y;ENSP00000419414:H468Y	ENSP00000273691:H456Y	H	-	1	0	ILDR1	123194788	0.109000	0.22037	0.001000	0.08648	0.252000	0.25951	2.180000	0.42537	0.802000	0.34089	0.563000	0.77884	CAC	G|0.956;A|0.044	0.044	strong		0.632	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		A	121712098	G	A	121712098	3	1	22	1	0	0	0	0	1	0	0	0	7709	1319	46	2	150	2	ILDR1	3	121712098	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	148743	121712098	76310332	2222	7330										
ILDR1	286676	hgsc.bcm.edu	37	chr3	121712271	121712271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggggcctctcctgacagCggctcctgaaaggagggtgg	17	11	1	2	rs34883204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:121712271C>T	ENST00000344209.5	-	7	1451	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R353H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R410H|ILDR1_ENST00000273691.3_Missense_Mutation_p.R398H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	442	Arg-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCTGACAGCGGCTCCTGAA	0.672													C|||	202	0.0403355	0.1452	0.0144	5008	,	,		16784	0.0		0.0	False		,,,				2504	0.0				p.R442H		Atlas-SNP	.											ILDR1_ENST00000344209,colon,carcinoma,-1,2	ILDR1	120	2	0			c.G1325A						scavenged	.	C	HIS/ARG,HIS/ARG,HIS/ARG	528,3878		24,480,1699	22	24	23		1325,1058,1193	-0.6	0.2	3	dbSNP_126	23	8,8592		0,8,4292	yes	missense,missense,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	29,29,29	24,488,5991	TT,TC,CC		0.093,11.9837,4.1212	probably-damaging,probably-damaging,probably-damaging	442/547,353/458,398/503	121712271	536,12470	2203	4300	6503	SO:0001583	missense	286676	exon7			TGACAGCGGCTCC	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1325G>A	3.37:g.121712271C>T	ENSP00000345667:p.Arg442His	Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	102	56	0.54902	NM_001199799	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	78	0.03571428571428571	74	0.15040650406504066	4	0.011049723756906077	0	0.0	0	0.0	C	7.187	0.590696	0.13812	0.119837	9.3E-4	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;D;T	0.82984	-1.18;-0.64;-1.67;-0.71	4.69	-0.554	0.11811	.	0.768774	0.12399	N	0.472300	T	0.01287	0.0042	M	0.61703	1.905	0.38075	P	0.06350900000000004	B;B;B;B	0.10296	0.003;0.001;0.003;0.003	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.38156	-0.9674	9	0.45353	T	0.12	-5.2038	8.9045	0.35515	0.0:0.3969:0.0:0.6031	rs34883204	353;442;398;410	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	H	398;442;353;410	ENSP00000273691:R398H;ENSP00000345667:R442H;ENSP00000377251:R353H;ENSP00000419414:R410H	ENSP00000273691:R398H	R	-	2	0	ILDR1	123194961	0.000000	0.05858	0.161000	0.22692	0.133000	0.20885	-0.271000	0.08572	-0.338000	0.08413	-0.345000	0.07892	CGC	C|0.960;T|0.040	0.040	strong		0.672	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		T	121712271	C	T	121712271	3	4	22	1	0	0	0	0	1	0	0	0	7709	768	27	1	323	1	ILDR1	3	121712271	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	173	121712271	76310159	2223	7331										
CSTA	1475	hgsc.bcm.edu	37	chr3	122060390	122060390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaggttgacaaaaacaaGgatgacgagctgacgggctt	12	8	0	3	rs34021626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122060390G>T	ENST00000264474.3	+	3	322	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	91					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		ACAAAAACAAGGATGACGAGC	0.408													G|||	96	0.0191693	0.0688	0.0072	5008	,	,		18439	0.0		0.0	False		,,,				2504	0.0				p.K91N	Pancreas(26;157 1503 12440)	Atlas-SNP	.											.	CSTA	11	.	0			c.G273T						PASS	.	G	ASN/LYS	255,4151	147.6+/-182.1	8,239,1956	122	120	120		273	3.6	0	3	dbSNP_126	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CSTA	NM_005213.3	94	8,240,6255	TT,TG,GG		0.0116,5.7876,1.9683	benign	91/99	122060390	256,12750	2203	4300	6503	SO:0001583	missense	1475	exon3			AAACAAGGATGAC		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.273G>T	3.37:g.122060390G>T	ENSP00000264474:p.Lys91Asn	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	86	48	0.55814	NM_005213	Q6IB90	Missense_Mutation	SNP	ENST00000264474.3	37	CCDS3011.1	33	0.01510989010989011	29	0.05894308943089431	4	0.011049723756906077	0	0.0	0	0.0	G	16.40	3.111876	0.56398	0.057876	1.16E-4	ENSG00000121552	ENST00000264474	T	0.77098	-1.07	5.34	3.56	0.40772	Proteinase inhibitor I25, cystatin (2);	0.284783	0.37053	N	0.002270	T	0.37945	0.1022	.	.	.	0.18873	N	0.999989	P	0.52577	0.954	P	0.57057	0.812	T	0.55541	-0.8125	9	0.49607	T	0.09	-9.3656	7.8305	0.29340	0.1844:0.0:0.8156:0.0	rs34021626	91	P01040	CYTA_HUMAN	N	91	ENSP00000264474:K91N	ENSP00000264474:K91N	K	+	3	2	CSTA	123543080	0.006000	0.16342	0.013000	0.15412	0.046000	0.14306	0.259000	0.18405	0.824000	0.34613	0.655000	0.94253	AAG	G|0.984;T|0.016	0.016	strong		0.408	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213		T	122060390	G	T	122060390	3	4	22	1	0	0	0	0	1	0	0	0	3981	991	35	4	283	4	CSTA	3	122060390	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	348119	122060390	75962040	2224	7332										
PARP15	165631	hgsc.bcm.edu	37	chr3	122296638	122296638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatcgggaggcggggagcGtgctgccggccgggaaccgt	21	10	0	1	rs1875272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122296638G>A	ENST00000464300.2	+	1	190	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	PARP15_ENST00000483793.1_Missense_Mutation_p.V42M	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	42				V -> M (in Ref. 4; AAY64451). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGCGGGGAGCGTGCTGCCGGC	0.697													G|||	1182	0.236022	0.2564	0.33	5008	,	,		14132	0.247		0.2197	False		,,,				2504	0.1472				p.V42M		Atlas-SNP	.											PARP15_ENST00000464300,NS,carcinoma,0,1	PARP15	115	1	0			c.G124A						PASS	.						27	30	29					3																	122296638		692	1591	2283	SO:0001583	missense	165631	exon1			GGGAGCGTGCTGC	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.124G>A	3.37:g.122296638G>A	ENSP00000417214:p.Val42Met	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	116	68	0.586207	NM_001113523	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	554	0.25366300366300365	125	0.2540650406504065	105	0.2900552486187845	155	0.270979020979021	169	0.22295514511873352	G	10.71	1.427298	0.25726	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.15139	2.62;2.45	2.55	0.535	0.17133	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	5.999999999950489E-6	P	0.39551	0.678	B	0.20577	0.03	T	0.47799	-0.9089	7	0.52906	T	0.07	.	4.5242	0.11973	0.1537:0.229:0.6174:0.0	rs1875272;rs1875272	42	C9J7L3	.	M	42	ENSP00000417214:V42M;ENSP00000417785:V42M	ENSP00000417214:V42M	V	+	1	0	PARP15	123779328	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.711000	0.05019	0.116000	0.18110	0.561000	0.74099	GTG	G|0.744;A|0.256	0.256	strong		0.697	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		A	122296638	G	A	122296638	3	1	22	1	0	0	0	0	1	0	0	0	11459	1145	40	1	126	1	PARP15	3	122296638	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	236248	122296638	75725792	2225	7333										
PARP15	165631	hgsc.bcm.edu	37	chr3	122351055	122351055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgaacttgttcttcctacGcaatagagaaggtaatactg	8	10	1	1	rs34383355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122351055G>A	ENST00000464300.2	+	10	1627	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	PARP15_ENST00000310366.4_Missense_Mutation_p.A287T|PARP15_ENST00000483793.1_Missense_Mutation_p.A326T|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.A218T	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	521	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.		A -> T (in dbSNP:rs34383355).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TTCTTCCTACGCAATAGAGAA	0.358													G|||	100	0.0199681	0.0734	0.0029	5008	,	,		22011	0.0		0.001	False		,,,				2504	0.0				p.A521T		Atlas-SNP	.											PARP15_ENST00000464300,NS,carcinoma,0,2	PARP15	115	2	0			c.G1561A						PASS	.	G	THR/ALA,THR/ALA	252,4154	145.7+/-180.5	6,240,1957	64	63	63		859,1561	-7.6	0	3	dbSNP_126	63	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	PARP15	NM_152615.1,NM_001113523.1	58,58	6,243,6254	AA,AG,GG		0.0349,5.7195,1.9606	benign,benign	287/445,521/679	122351055	255,12751	2203	4300	6503	SO:0001583	missense	165631	exon10			TCCTACGCAATAG	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1561G>A	3.37:g.122351055G>A	ENSP00000417214:p.Ala521Thr	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	23	15	0.652174	NM_001113523	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	32	0.014652014652014652	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	1.319	-0.600018	0.03744	0.057195	3.49E-4	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	3.77	-7.55	0.01327	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.00384	0.0012	N	0.01576	-0.805	0.09310	N	1	B;B;B;B;B	0.17465	0.0;0.0;0.0;0.022;0.0	B;B;B;B;B	0.10450	0.002;0.0;0.0;0.005;0.002	T	0.43376	-0.9395	9	0.13470	T	0.59	.	6.614	0.22766	0.2724:0.3821:0.3455:0.0	rs34383355;rs56885169	218;287;268;326;499	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	T	521;326;268;287;218	ENSP00000417214:A521T;ENSP00000417785:A326T;ENSP00000308436:A287T;ENSP00000419488:A218T	ENSP00000308436:A287T	A	+	1	0	PARP15	123833745	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.060000	0.14342	-1.640000	0.01525	-1.085000	0.02201	GCA	G|0.981;A|0.019	0.019	strong		0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		A	122351055	G	A	122351055	3	1	22	1	0	0	0	0	1	0	0	0	11459	1087	38	1	1668	1	PARP15	3	122351055	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54417	122351055	75671375	2226	7334										
PARP15	165631	hgsc.bcm.edu	37	chr3	122354796	122354796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagtcttcacaaagggacGtgcaggattagtcacccctc	11	11	3	0	rs145474072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122354796G>C	ENST00000464300.2	+	12	1952	c.1886G>C	c.(1885-1887)cGt>cCt	p.R629P	PARP15_ENST00000310366.4_Missense_Mutation_p.R395P|PARP15_ENST00000483793.1_Missense_Mutation_p.R434P|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.R326P	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	629	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACAAAGGGACGTGCAGGATTA	0.478													G|||	29	0.00579073	0.0219	0.0	5008	,	,		19916	0.0		0.0	False		,,,				2504	0.0				p.R629P		Atlas-SNP	.											.	PARP15	115	.	0			c.G1886C						PASS	.	G	PRO/ARG,PRO/ARG	66,4340	62.3+/-99.4	2,62,2139	162	132	142		1184,1886	-4.6	0	3	dbSNP_134	142	0,8600		0,0,4300	yes	missense,missense	PARP15	NM_152615.1,NM_001113523.1	103,103	2,62,6439	CC,CG,GG		0.0,1.498,0.5075	benign,benign	395/445,629/679	122354796	66,12940	2203	4300	6503	SO:0001583	missense	165631	exon12			AGGGACGTGCAGG	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1886G>C	3.37:g.122354796G>C	ENSP00000417214:p.Arg629Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_001113523	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	8.506	0.865423	0.17250	0.01498	0.0	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.99	-4.55	0.03441	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.05686	0.0149	N	0.26162	0.8	0.09310	N	1	P;B;B;D;B	0.56521	0.566;0.246;0.427;0.976;0.124	B;B;B;B;B	0.43386	0.348;0.222;0.119;0.418;0.162	T	0.14504	-1.0470	9	0.45353	T	0.12	.	5.9187	0.19070	0.3756:0.2583:0.3661:0.0	.	326;395;376;434;607	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	P	629;434;376;395;326	ENSP00000417214:R629P;ENSP00000417785:R434P;ENSP00000308436:R395P;ENSP00000419488:R326P	ENSP00000308436:R395P	R	+	2	0	PARP15	123837486	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.511000	0.06321	-1.056000	0.03205	-1.043000	0.02367	CGT	G|0.995;C|0.005	0.005	strong		0.478	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		C	122354796	G	C	122354796	3	2	22	1	0	0	0	0	1	0	0	0	11459	1145	40	4	2001	4	PARP15	3	122354796	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3741	122354796	75667634	2227	7335										
PARP14	54625	hgsc.bcm.edu	37	chr3	122419151	122419151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaccagctgttcttctgaaGccctgttagaagcagaaaag	9	9	2	3	rs201474464		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122419151G>A	ENST00000474629.2	+	6	2016	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTCTTCTGAAGCCCTGTTAGA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21056	0.0		0.0	False		,,,				2504	0.0				p.A584T		Atlas-SNP	.											PARP14_ENST00000474629,caecum,carcinoma,-2,2	PARP14	242	2	0			c.G1750A						PASS	.	G	THR/ALA	10,3702		0,10,1846	38	35	36		1750	3.5	0	3		36	0,8178		0,0,4089	yes	missense	PARP14	NM_017554.2	58	0,10,5935	AA,AG,GG		0.0,0.2694,0.0841	benign	584/1802	122419151	10,11880	1856	4089	5945	SO:0001583	missense	54625	exon6			TCTGAAGCCCTGT	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1750G>A	3.37:g.122419151G>A	ENSP00000418194:p.Ala584Thr	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	77	32	0.415584	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882878	0.17467	0.002694	0.0	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.09817	2.94	5.34	3.52	0.40303	.	0.755868	0.11822	N	0.526062	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.09377	0.002;0.004	T	0.33343	-0.9872	10	0.02654	T	1	.	11.1929	0.48696	0.1539:0.0:0.8461:0.0	.	584;584	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	584;503	ENSP00000418194:A584T	ENSP00000381228:A503T	A	+	1	0	PARP14	123901841	0.558000	0.26554	0.005000	0.12908	0.634000	0.38068	2.752000	0.47516	1.494000	0.48533	-0.142000	0.14014	GCC	.	.	weak		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		A	122419151	G	A	122419151	3	1	22	1	0	0	0	0	1	0	0	0	11458	971	34	2	1772	2	PARP14	3	122419151	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64355	122419151	75603279	2228	7336										
PARP14	54625	hgsc.bcm.edu	37	chr3	122419292	122419292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaaaattcctccccaaacActgtaatcatcaatgagtta	3	11	2	1	rs7632072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122419292A>G	ENST00000474629.2	+	6	2157	c.1891A>G	c.(1891-1893)Act>Gct	p.T631A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTCCCCAAACACTGTAATCAT	0.348													A|||	278	0.0555112	0.1218	0.0576	5008	,	,		21423	0.001		0.0487	False		,,,				2504	0.0276				p.T631A		Atlas-SNP	.											.	PARP14	242	.	0			c.A1891G						PASS	.	A	ALA/THR	342,3342		18,306,1518	31	30	31		1891	2.1	0	3	dbSNP_116	31	361,7841		5,351,3745	yes	missense	PARP14	NM_017554.2	58	23,657,5263	GG,GA,AA		4.4014,9.2834,5.9145	probably-damaging	631/1802	122419292	703,11183	1842	4101	5943	SO:0001583	missense	54625	exon6			CCAAACACTGTAA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1891A>G	3.37:g.122419292A>G	ENSP00000418194:p.Thr631Ala	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	87	42	0.482759	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	111	0.050824175824175824	49	0.09959349593495935	22	0.06077348066298342	1	0.0017482517482517483	39	0.051451187335092345	A	13.04	2.119612	0.37436	0.092834	0.044014	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10099	2.91	6.06	2.12	0.27331	.	0.174182	0.39759	N	0.001269	T	0.00271	0.0008	M	0.66939	2.045	0.09310	N	1	P;B	0.38827	0.649;0.376	B;B	0.33690	0.168;0.055	T	0.30268	-0.9984	10	0.36615	T	0.2	.	3.82	0.08832	0.663:0.1354:0.0717:0.1299	rs7632072;rs52827643;rs7632072	631;631	Q460N5-4;Q460N5	.;PAR14_HUMAN	A	631;550	ENSP00000418194:T631A	ENSP00000381228:T550A	T	+	1	0	PARP14	123901982	0.014000	0.17966	0.001000	0.08648	0.003000	0.03518	1.250000	0.32850	0.497000	0.27926	0.533000	0.62120	ACT	A|0.950;G|0.050	0.050	strong		0.348	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		G	122419292	A	G	122419292	3	3	22	1	0	0	0	0	1	0	0	0	11458	159	6	2	1913	2	PARP14	3	122419292	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	141	122419292	75603138	2229	7337										
PARP14	54625	hgsc.bcm.edu	37	chr3	122419993	122419993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactcctaccgggcaatgcCaccatctccaaggcaggaaa	9	14	1	1	rs16833421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122419993C>T	ENST00000474629.2	+	6	2858	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	864	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CGGGCAATGCCACCATCTCCA	0.612													C|||	169	0.033746	0.1188	0.0173	5008	,	,		19518	0.0		0.0	False		,,,				2504	0.0				p.A864A		Atlas-SNP	.											.	PARP14	242	.	0			c.C2592T						PASS	.	C		326,3758		15,296,1731	33	35	34		2592	-0.9	0	3	dbSNP_123	34	3,8335		0,3,4166	yes	coding-synonymous	PARP14	NM_017554.2		15,299,5897	TT,TC,CC		0.036,7.9824,2.6485		864/1802	122419993	329,12093	2042	4169	6211	SO:0001819	synonymous_variant	54625	exon6			CAATGCCACCATC	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2592C>T	3.37:g.122419993C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																			C|0.965;T|0.035	0.035	strong		0.612	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122419993	C	T	122419993	2	4	22	1	0	0	0	0	0	0	0	1	11458	581	21	2		2	PARP14	3	122419993	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	701	122419993	75602437	2230	7338										
PARP14	54625	hgsc.bcm.edu	37	chr3	122437536	122437536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctagagatgaaattgaggCgatgatcaagagagttcgat	14	4	1	5	rs61732767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122437536C>T	ENST00000474629.2	+	14	4804	c.4538C>T	c.(4537-4539)gCg>gTg	p.A1513V	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAAATTGAGGCGATGATCAAG	0.388													C|||	54	0.0107827	0.0363	0.0086	5008	,	,		21623	0.0		0.0	False		,,,				2504	0.0				p.A1513V		Atlas-SNP	.											.	PARP14	242	.	0			c.C4538T						PASS	.	C	VAL/ALA	89,3737		3,83,1827	209	205	206		4538	-3.8	0	3	dbSNP_129	206	1,8273		0,1,4136	yes	missense	PARP14	NM_017554.2	64	3,84,5963	TT,TC,CC		0.0121,2.3262,0.7438	benign	1513/1802	122437536	90,12010	1913	4137	6050	SO:0001583	missense	54625	exon14			TTGAGGCGATGAT	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4538C>T	3.37:g.122437536C>T	ENSP00000418194:p.Ala1513Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	138	51	0.369565	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	20	0.009157509157509158	16	0.032520325203252036	4	0.011049723756906077	0	0.0	0	0.0	C	12.90	2.075995	0.36662	0.023262	1.21E-4	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.31510	1.49	5.05	-3.77	0.04346	.	1.394450	0.04317	N	0.350052	T	0.04815	0.0130	L	0.29908	0.895	0.09310	N	1	B;P	0.37330	0.166;0.59	B;B	0.26094	0.035;0.066	T	0.11324	-1.0592	10	0.30078	T	0.28	.	1.8967	0.03259	0.3644:0.238:0.2884:0.1093	rs61732767	1513;1513	Q460N5-4;Q460N5	.;PAR14_HUMAN	V	1513;1432;116;509	ENSP00000418194:A1513V	ENSP00000310633:A116V	A	+	2	0	PARP14	123920226	0.000000	0.05858	0.005000	0.12908	0.945000	0.59286	0.740000	0.26188	-0.515000	0.06479	-0.271000	0.10264	GCG	C|0.990;T|0.010	0.010	strong		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122437536	C	T	122437536	3	4	22	1	0	0	0	0	1	0	0	0	11458	768	27	1	4592	1	PARP14	3	122437536	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17543	122437536	75584894	2231	7339										
HSPBAP1	79663	hgsc.bcm.edu	37	chr3	122459290	122459291	+	In_Frame_Ins	INS	-	-	AGA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgtagaaatgaatgtttgINSaggagtcgtagtagtatttg					rs71270423|rs370465518|rs34964328|rs16338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122459290_122459291insAGA	ENST00000306103.2	-	8	1511_1512	c.1368_1369insTCT	c.(1366-1371)cctcaa>cctTCTcaa	p.456_457PQ>PSQ	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	456				P -> PS (in Ref. 3; AAH17763). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ATGAATGTTTGAGGAGTCGTAG	0.386														759	0.151558	0.2277	0.1671	5008	,	,		16998	0.126		0.1382	False		,,,				2504	0.0777				p.Q457delinsSQ		Pindel,Atlas-Indel	.											HSPBAP1,NS,carcinoma,+1,1	HSPBAP1	32	1	0			c.1369_1370insTCT						PASS	.			830,3436		82,666,1385						1.2	0		dbSNP_54	189	1244,7010		94,1056,2977	no	coding	HSPBAP1	NM_024610.5		176,1722,4362	A1A1,A1R,RR		15.0715,19.4562,16.5655				2074,10446				SO:0001652	inframe_insertion	79663	exon8			.	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1368_1369insTCT	3.37:g.122459290_122459291insAGA	ENSP00000302562:p.Pro456_Gln457insSer	Somatic	296	.	.		WXS	Illumina HiSeq	Phase_I	296	71	0.24	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	In_Frame_Ins	INS	ENST00000306103.2	37	CCDS3017.1																																																																																			-|0.847;AGA|0.153	0.153	strong		0.386	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		AGA	122459291	-	AGA	122459290	7	5	22	1	0	1	1	0	0	0	0	0	7425	1299	45	0	101	0	HSPBAP1	3	122459290	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	21754	122459290	75563140	2232	7340										
HSPBAP1	79663	hgsc.bcm.edu	37	chr3	122496628	122496628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgccatgaaggacctgcgAaaggtatttagcattccagt	10	9	0	1	rs16833517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122496628A>C	ENST00000306103.2	-	2	333	c.190T>G	c.(190-192)Tcg>Gcg	p.S64A	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Missense_Mutation_p.S64A	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	64			S -> A (in dbSNP:rs16833517).			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGACCTGCGAAAGGTATTTA	0.413													A|||	256	0.0511182	0.1831	0.0202	5008	,	,		20190	0.0		0.0	False		,,,				2504	0.0				p.S64A		Atlas-SNP	.											HSPBAP1,NS,carcinoma,+1,1	HSPBAP1	32	1	0			c.T190G						PASS	.	A	ALA/SER	634,3772	274.0+/-271.7	39,556,1608	188	169	175		190	2.8	0.9	3	dbSNP_123	175	3,8597	3.0+/-9.4	0,3,4297	yes	missense	HSPBAP1	NM_024610.5	99	39,559,5905	CC,CA,AA		0.0349,14.3895,4.8977	benign	64/489	122496628	637,12369	2203	4300	6503	SO:0001583	missense	79663	exon2			CCTGCGAAAGGTA	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.190T>G	3.37:g.122496628A>C	ENSP00000302562:p.Ser64Ala	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	346	191	0.552023	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	CCDS3017.1	75	0.034340659340659344	67	0.13617886178861788	8	0.022099447513812154	0	0.0	0	0.0	A	9.139	1.013317	0.19277	0.143895	3.49E-4	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.69040	-0.37;3.02	5.32	2.8	0.32819	.	0.105878	0.64402	N	0.000002	T	0.00496	0.0016	L	0.43757	1.38	0.37348	D	0.910665	B;B	0.28324	0.124;0.207	B;B	0.29353	0.057;0.101	T	0.02093	-1.1215	10	0.11485	T	0.65	.	6.8743	0.24139	0.6936:0.1567:0.0:0.1497	rs16833517;rs57105676;rs16833517	64;64	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	A	64	ENSP00000373155:S64A;ENSP00000302562:S64A	ENSP00000302562:S64A	S	-	1	0	HSPBAP1	123979318	1.000000	0.71417	0.943000	0.38184	0.390000	0.30446	2.466000	0.45084	0.405000	0.25532	0.528000	0.53228	TCG	A|0.951;C|0.049	0.049	strong		0.413	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		C	122496628	A	C	122496628	3	2	22	1	0	0	0	0	1	0	0	0	7425	246	9	5	1304	5	HSPBAP1	3	122496628	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37338	122496628	75525802	2233	7341										
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122634665	122634665	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggctcatgttggagctGtcctcgagtgtgctgcaacg	14	10	1	1	rs34037493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122634665G>C	ENST00000357599.3	-	13	2147	c.1761C>G	c.(1759-1761)gaC>gaG	p.D587E	SEMA5B_ENST00000195173.4_Missense_Mutation_p.D587E|SEMA5B_ENST00000451055.2_Missense_Mutation_p.D641E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	587					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTTGGAGCTGTCCTCGAGTG	0.597													G|||	161	0.0321486	0.1089	0.0216	5008	,	,		18045	0.0		0.002	False		,,,				2504	0.0				p.D641E		Atlas-SNP	.											.	SEMA5B	303	.	0			c.C1923G						PASS	.	G	GLU/ASP	369,4037	187.4+/-214.1	18,333,1852	142	134	137		1761	4.6	1	3	dbSNP_126	137	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SEMA5B	NM_001031702.2	45	18,337,6148	CC,CG,GG		0.0465,8.3749,2.8679	benign	587/1152	122634665	373,12633	2203	4300	6503	SO:0001583	missense	54437	exon13			GGAGCTGTCCTCG	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1761C>G	3.37:g.122634665G>C	ENSP00000350215:p.Asp587Glu	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	280	144	0.514286	NM_001256347	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	62	0.028388278388278388	51	0.10365853658536585	9	0.024861878453038673	0	0.0	2	0.002638522427440633	G	12.03	1.817110	0.32145	0.083749	4.65E-4	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.00271	0.0008	N	0.11284	0.12	0.54753	D	0.999981	B;B;B	0.27559	0.086;0.181;0.181	B;B;B	0.27500	0.048;0.08;0.08	T	0.11108	-1.0601	10	0.05525	T	0.97	.	14.3689	0.66826	0.0:0.0:1.0:0.0	rs34037493;rs59368219	529;587;587	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	E	587;587;529;641;587	ENSP00000350215:D587E;ENSP00000195173:D587E;ENSP00000389588:D641E;ENSP00000377208:D587E	ENSP00000195173:D587E	D	-	3	2	SEMA5B	124117355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.083000	0.41615	2.404000	0.81709	0.561000	0.74099	GAC	G|0.970;C|0.030	0.030	strong		0.597	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		C	122634665	G	C	122634665	3	2	22	1	0	0	0	0	1	0	0	0	14038	1368	48	4	1738	4	SEMA5B	3	122634665	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138037	122634665	75387765	2234	7342										
PDIA5	10954	hgsc.bcm.edu	37	chr3	122864436	122864436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagccctccatggagaagcGgatgtaagcttcctttcctt	10	11	0	1	rs8739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:122864436G>A	ENST00000316218.7	+	12	1073	c.978G>A	c.(976-978)gcG>gcA	p.A326A	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	326	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ATGGAGAAGCGGATGTAAGCT	0.502													G|||	3482	0.695288	0.7398	0.5778	5008	,	,		19059	0.8155		0.5775	False		,,,				2504	0.7157				p.A326A		Atlas-SNP	.											PDIA5,caecum,carcinoma,+1,2	PDIA5	66	2	0			c.G978A						PASS	.	G		3022,1384	689.1+/-405.1	1009,1004,190	113	107	109		978	-9.6	0.3	3	dbSNP_52	109	4697,3903	606.0+/-395.0	1263,2171,866	no	coding-synonymous	PDIA5	NM_006810.3		2272,3175,1056	AA,AG,GG		45.3837,31.4117,40.6505		326/520	122864436	7719,5287	2203	4300	6503	SO:0001819	synonymous_variant	10954	exon12			AGAAGCGGATGTA	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.978G>A	3.37:g.122864436G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_006810	D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	CCDS3020.1																																																																																			A|0.501;C|0.057;G|0.305;T|0.138	0.501	strong		0.502	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		A	122864436	G	A	122864436	2	1	22	1	0	0	0	0	0	0	0	1	11671	1103	39	1		1	PDIA5	3	122864436	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	229771	122864436	75157994	2235	7343										
MYLK	4638	hgsc.bcm.edu	37	chr3	123357037	123357037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaccttcagagaccccgcAttctctgaaaccaggatgga	10	12	2	2	rs820463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:123357037A>G	ENST00000475616.1	-	26	4841	c.4842T>C	c.(4840-4842)aaT>aaC	p.N1614N	MYLK_ENST00000360304.3_Silent_p.N1614N|MYLK_ENST00000360772.3_Silent_p.N1614N|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.N1545N|MYLK_ENST00000354792.5_Silent_p.N414N|MYLK_ENST00000359169.1_Silent_p.N1614N			Q15746	MYLK_HUMAN	myosin light chain kinase	1614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGACCCCGCATTCTCTGAAA	0.552													A|||	1875	0.374401	0.4743	0.3271	5008	,	,		20106	0.6399		0.0785	False		,,,				2504	0.3037				p.N1614N		Atlas-SNP	.											.	MYLK	224	.	0			c.T4842C						PASS	.	A	,,,	1798,2608	529.2+/-372.6	372,1054,777	57	58	58		4842,4635,4842,4635	-0.1	1	3	dbSNP_86	58	776,7824	184.5+/-232.4	41,694,3565	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	413,1748,4342	GG,GA,AA		9.0233,40.808,19.7909	,,,	1614/1915,1545/1846,1614/1864,1545/1795	123357037	2574,10432	2203	4300	6503	SO:0001819	synonymous_variant	4638	exon29			CCCCGCATTCTCT	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4842T>C	3.37:g.123357037A>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	49	0.395161	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			A|0.732;G|0.268	0.268	strong		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123357037	A	G	123357037	2	3	22	1	0	0	0	0	0	0	0	1	10056	214	8	2		2	MYLK	3	123357037	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	492601	123357037	74665393	2236	7344										
MYLK	4638	hgsc.bcm.edu	37	chr3	123368013	123368013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggctgcactcaccatcAtctgacacctccacttcatc	6	17	4	1	rs1254392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:123368013A>G	ENST00000475616.1	-	22	4316	c.4317T>C	c.(4315-4317)gaT>gaC	p.D1439D	MYLK_ENST00000360304.3_Silent_p.D1439D|MYLK_ENST00000359169.1_Silent_p.D1439D|MYLK_ENST00000346322.5_Silent_p.D1370D|MYLK_ENST00000354792.5_Silent_p.D239D|MYLK_ENST00000360772.3_Silent_p.D1439D			Q15746	MYLK_HUMAN	myosin light chain kinase	1439	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCACCATCATCTGACACCT	0.592													G|||	1984	0.396166	0.5401	0.3285	5008	,	,		16095	0.6448		0.0895	False		,,,				2504	0.3088				p.D1439D		Atlas-SNP	.											.	MYLK	224	.	0			c.T4317C						PASS	.	G	,,,	2112,2294	600.7+/-389.6	506,1100,597	94	101	99		4317,4110,4317,4110	2.8	1	3	dbSNP_87	99	809,7791	782.2+/-407.6	47,715,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	553,1815,4135	GG,GA,AA		9.407,47.9346,22.4589	,,,	1439/1915,1370/1846,1439/1864,1370/1795	123368013	2921,10085	2203	4300	6503	SO:0001819	synonymous_variant	4638	exon25			ACCATCATCTGAC	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4317T>C	3.37:g.123368013A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	77	36	0.467532	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			A|0.731;G|0.269	0.269	strong		0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123368013	A	G	123368013	2	3	22	1	0	0	0	0	0	0	0	1	10056	214	8	2		2	MYLK	3	123368013	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10976	123368013	74654417	2237	7345										
MYLK	4638	hgsc.bcm.edu	37	chr3	123419573	123419573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggctgggatctccttcagGtcgtcttccgatagggtctt	12	11	4	0	rs3732487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:123419573G>T	ENST00000475616.1	-	15	2741	c.2742C>A	c.(2740-2742)gaC>gaA	p.D914E	MYLK_ENST00000359169.1_Missense_Mutation_p.D914E|MYLK_ENST00000360304.3_Missense_Mutation_p.D914E|MYLK_ENST00000346322.5_Missense_Mutation_p.D845E|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.D914E			Q15746	MYLK_HUMAN	myosin light chain kinase	914	5 X 28 AA approximate tandem repeats.		D -> E (in dbSNP:rs3732487).		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCCTTCAGGTCGTCTTCCG	0.582													G|||	1132	0.226038	0.1513	0.0418	5008	,	,		16707	0.5496		0.0338	False		,,,				2504	0.3221				p.D914E		Atlas-SNP	.											.	MYLK	224	.	0			c.C2742A						PASS	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	504,3902	232.0+/-245.7	27,450,1726	94	82	86		2742,2535,2742,2535	-0.8	1	3	dbSNP_107	86	148,8452	73.2+/-135.9	2,144,4154	yes	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	45,45,45,45	29,594,5880	TT,TG,GG		1.7209,11.4389,5.0131	benign,benign,benign,benign	914/1915,845/1846,914/1864,845/1795	123419573	652,12354	2203	4300	6503	SO:0001583	missense	4638	exon18			CTTCAGGTCGTCT	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2742C>A	3.37:g.123419573G>T	ENSP00000418335:p.Asp914Glu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	161	86	0.534162	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	432	0.1978021978021978	84	0.17073170731707318	17	0.04696132596685083	300	0.5244755244755245	31	0.040897097625329816	G	4.440	0.081456	0.08533	0.114389	0.017209	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.65178	-0.14;-0.12;-0.14;-0.1;-0.12	4.99	-0.822	0.10819	.	.	.	.	.	T	0.00012	0.0000	N	0.17800	0.525	0.36349	P	0.14003699999999997	B;B;B;B;B	0.15141	0.012;0.005;0.005;0.012;0.007	B;B;B;B;B	0.17979	0.02;0.014;0.014;0.013;0.009	T	0.47195	-0.9136	8	0.14656	T	0.56	.	0.0266	0.00004	0.3147:0.2044:0.1863:0.2946	rs3732487;rs57412209;rs3732487	914;845;914;845;914	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	E	914;914;914;845;914	ENSP00000354004:D914E;ENSP00000353452:D914E;ENSP00000352088:D914E;ENSP00000320622:D845E;ENSP00000418335:D914E	ENSP00000320622:D845E	D	-	3	2	MYLK	124902263	0.870000	0.30015	0.991000	0.47740	0.412000	0.31113	0.078000	0.14761	0.137000	0.18759	-0.258000	0.10820	GAC	G|0.879;T|0.121	0.121	strong		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123419573	G	T	123419573	3	4	22	1	0	0	0	0	1	0	0	0	10056	1252	44	4	3070	4	MYLK	3	123419573	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51560	123419573	74602857	2238	7346										
MYLK	4638	hgsc.bcm.edu	37	chr3	123419733	123419733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcgccgtcttcctcctctAgccaaccctgccctcttgct	5	21	3	0	rs3732486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:123419733A>G	ENST00000475616.1	-	15	2581	c.2582T>C	c.(2581-2583)cTa>cCa	p.L861P	MYLK_ENST00000360304.3_Missense_Mutation_p.L861P|MYLK_ENST00000359169.1_Missense_Mutation_p.L861P|MYLK_ENST00000346322.5_Missense_Mutation_p.L792P|MYLK_ENST00000360772.3_Missense_Mutation_p.L861P|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	861			L -> P (in dbSNP:rs3732486).		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCCTCCTCTAGCCAACCCTG	0.652													G|||	1397	0.278954	0.3351	0.0576	5008	,	,		13379	0.5526		0.0358	False		,,,				2504	0.3282				p.L861P		Atlas-SNP	.											.	MYLK	224	.	0			c.T2582C						PASS	.	G	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU	1145,3261		147,851,1205	55	61	59		2582,2375,2582,2375	4.8	0.9	3	dbSNP_107	59	154,8446		2,150,4148	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	98,98,98,98	149,1001,5353	GG,GA,AA		1.7907,25.9873,9.9877	benign,benign,benign,benign	861/1915,792/1846,861/1864,792/1795	123419733	1299,11707	2203	4300	6503	SO:0001583	missense	4638	exon18			TCCTCTAGCCAAC	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2582T>C	3.37:g.123419733A>G	ENSP00000418335:p.Leu861Pro	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	49	24	0.489796	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	520	0.23809523809523808	165	0.3353658536585366	22	0.06077348066298342	300	0.5244755244755245	33	0.04353562005277045	G	10.64	1.406282	0.25378	0.259873	0.017907	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.19;-0.22;-0.19;-0.19	4.77	4.77	0.60923	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.09310	P	1.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.41215	-0.9521	8	0.28530	T	0.3	.	11.6377	0.51213	0.0828:0.0:0.9172:0.0	rs3732486;rs3732486	861;792;861;792;861	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	P	861;861;861;792;861	ENSP00000354004:L861P;ENSP00000353452:L861P;ENSP00000352088:L861P;ENSP00000320622:L792P;ENSP00000418335:L861P	ENSP00000320622:L792P	L	-	2	0	MYLK	124902423	0.002000	0.14202	0.858000	0.33744	0.839000	0.47603	0.535000	0.23114	1.257000	0.44085	-0.215000	0.12644	CTA	A|0.858;G|0.142	0.142	strong		0.652	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123419733	A	G	123419733	3	3	22	1	0	0	0	0	1	0	0	0	10056	420	15	3	3230	3	MYLK	3	123419733	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	160	123419733	74602697	2239	7347										
CCDC14	64770	hgsc.bcm.edu	37	chr3	123633665	123633665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttaaagacttctggagTctagctatgttggcatctaa	9	8	3	1	rs13319634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:123633665T>C	ENST00000488653.2	-	13	2913	c.2823A>G	c.(2821-2823)agA>agG	p.R941R	CCDC14_ENST00000485727.1_Silent_p.R741R|CCDC14_ENST00000310351.4_Silent_p.R781R|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000489746.1_Silent_p.R741R|CCDC14_ENST00000433542.2_Silent_p.R900R			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	941					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTTCTGGAGTCTAGCTATGT	0.403													T|||	124	0.0247604	0.09	0.0072	5008	,	,		477	0.0		0.0	False		,,,				2504	0.0				p.R900R		Atlas-SNP	.											.	CCDC14	97	.	0			c.A2700G						PASS	.	T		317,4089		15,287,1901	20	20	20		2700	-3.3	0.8	3	dbSNP_121	20	7,8589		0,7,4291	no	coding-synonymous	CCDC14	NM_022757.4		15,294,6192	CC,CT,TT		0.0814,7.1947,2.4919		900/913	123633665	324,12678	2203	4298	6501	SO:0001819	synonymous_variant	64770	exon12			CTGGAGTCTAGCT	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2823A>G	3.37:g.123633665T>C		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	197	82	0.416244	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37																																																																																				T|0.970;C|0.030	0.030	strong		0.403	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		C	123633665	T	C	123633665	2	2	22	1	0	0	0	0	0	0	0	1	2773	1664	58	2		2	CCDC14	3	123633665	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	213932	123633665	74388765	2240	7348										
KALRN	8997	hgsc.bcm.edu	37	chr3	124174062	124174062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcttctgattcagctggcCgatagctttgtggaaaaagg	12	7	2	1	rs61747979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124174062C>T	ENST00000240874.3	+	22	3742	c.3585C>T	c.(3583-3585)gcC>gcT	p.A1195A	KALRN_ENST00000460856.1_Silent_p.A1186A|KALRN_ENST00000360013.3_Silent_p.A1195A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1195					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1195A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCAGCTGGCCGATAGCTTTG	0.483													C|||	160	0.0319489	0.1172	0.0072	5008	,	,		21547	0.0		0.0	False		,,,				2504	0.0				p.A1195A		Atlas-SNP	.											.	KALRN	556	.	2	Substitution - coding silent(2)	lung(2)	c.C3585T						PASS	.	C	,	413,3993	203.5+/-225.9	25,363,1815	118	109	112		3585,3585	-9.4	0	3	dbSNP_129	112	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_003947.4	,	25,366,6112	TT,TC,CC		0.0349,9.3736,3.1985	,	1195/2987,1195/1664	124174062	416,12590	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon22			GCTGGCCGATAGC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3585C>T	3.37:g.124174062C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	104	51	0.490385	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	68	0.031135531135531136	66	0.13414634146341464	2	0.0055248618784530384	0	0.0	0	0.0	C	6.766	0.510205	0.12883	0.093736	3.49E-4	ENSG00000160145	ENST00000354186	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	0.9999999999999124	.	.	.	.	.	.	T	0.01925	-1.1246	3	.	.	.	.	3.8289	0.08865	0.2842:0.1245:0.0655:0.5257	rs61747979	.	.	.	L	1164	.	.	P	+	2	0	KALRN	125656752	0.000000	0.05858	0.027000	0.17364	0.936000	0.57629	-4.076000	0.00300	-4.614000	0.00039	-1.741000	0.00685	CCG	C|0.969;T|0.031	0.031	strong		0.483	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124174062	C	T	124174062	2	4	22	1	0	0	0	0	0	0	0	1	7975	639	23	1		1	KALRN	3	124174062	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	540397	124174062	73848368	2241	7349										
KALRN	8997	hgsc.bcm.edu	37	chr3	124352728	124352728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttggggtgaagatgagccGgatgaagagtcacacacacc	15	8	1	5	rs652863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124352728G>A	ENST00000291478.5	+	3	565	c.402G>A	c.(400-402)ccG>ccA	p.P134P	KALRN_ENST00000428018.2_Silent_p.P134P|KALRN_ENST00000360013.3_Silent_p.P1831P|KALRN_ENST00000393496.1_Silent_p.P204P	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1831	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAGATGAGCCGGATGAAGAGT	0.438													G|||	350	0.0698882	0.1974	0.0389	5008	,	,		20051	0.0		0.0457	False		,,,				2504	0.0164				p.P1831P		Atlas-SNP	.											TRAD,NS,carcinoma,+1,2	KALRN	556	2	0			c.G5493A						PASS	.	G	,	726,3680	301.0+/-286.6	68,590,1545	127	107	113		5493,402	-0.6	1	3	dbSNP_83	113	320,8280	112.3+/-172.5	9,302,3989	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_007064.3	,	77,892,5534	AA,AG,GG		3.7209,16.4775,8.0424	,	1831/2987,134/1290	124352728	1046,11960	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon36			TGAGCCGGATGAA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.402G>A	3.37:g.124352728G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	82	47	0.573171	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	142	0.06501831501831502	96	0.1951219512195122	13	0.03591160220994475	0	0.0	33	0.04353562005277045	G	9.418	1.082387	0.20309	0.164775	0.037209	ENSG00000160145	ENST00000354186	.	.	.	4.74	-0.623	0.11556	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.23368	-1.0190	3	.	.	.	.	3.6533	0.08212	0.4502:0.0:0.152:0.3978	rs652863;rs652863	.	.	.	Q	1800	.	.	R	+	2	0	KALRN	125835418	0.998000	0.40836	0.997000	0.53966	0.992000	0.81027	0.599000	0.24089	-0.173000	0.10761	-0.367000	0.07326	CGG	G|0.917;A|0.083	0.083	strong		0.438	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		A	124352728	G	A	124352728	2	1	22	1	0	0	0	0	0	0	0	1	7975	1103	39	1		1	KALRN	3	124352728	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	178666	124352728	73669702	2242	7350										
KALRN	8997	hgsc.bcm.edu	37	chr3	124369744	124369744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccacacctcctaaaaaCccagaagaagaacagaaagc	5	15	0	4	rs12106716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124369744C>T	ENST00000291478.5	+	5	823	c.660C>T	c.(658-660)aaC>aaT	p.N220N	KALRN_ENST00000428018.2_Silent_p.N188N|KALRN_ENST00000459915.1_Silent_p.N9N|KALRN_ENST00000360013.3_Silent_p.N1917N|KALRN_ENST00000393496.1_Silent_p.N258N	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1916					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCCTAAAAACCCAGAAGAAG	0.552													C|||	446	0.0890575	0.1339	0.111	5008	,	,		19385	0.001		0.1014	False		,,,				2504	0.091				p.N1917N		Atlas-SNP	.											.	KALRN	556	.	0			c.C5751T						PASS	.	C	,	643,3763	275.7+/-272.7	49,545,1609	93	84	87		5751,660	4	1	3	dbSNP_120	87	1048,7552	221.5+/-258.9	63,922,3315	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_007064.3	,	112,1467,4924	TT,TC,CC		12.186,14.5937,13.0017	,	1917/2987,220/1290	124369744	1691,11315	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon38			TAAAAACCCAGAA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.660C>T	3.37:g.124369744C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	22	0.305556	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	187	0.08562271062271062	73	0.1483739837398374	43	0.11878453038674033	0	0.0	71	0.09366754617414248	C	1.724	-0.495982	0.04291	0.145937	0.12186	ENSG00000160145	ENST00000354186	.	.	.	4.83	3.96	0.45880	.	.	.	.	.	T	0.00552	0.0018	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.13899	-1.0492	3	.	.	.	.	12.8883	0.58057	0.0:0.9206:0.0:0.0794	rs12106716	.	.	.	I	1886	.	.	T	+	2	0	KALRN	125852434	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	2.823000	0.48081	1.250000	0.43966	0.655000	0.94253	ACC	C|0.888;T|0.112	0.112	strong		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		T	124369744	C	T	124369744	2	4	22	1	0	0	0	0	0	0	0	1	7975	506	18	2		2	KALRN	3	124369744	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17016	124369744	73652686	2243	7351										
KALRN	8997	hgsc.bcm.edu	37	chr3	124374487	124374487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacagacagagaaagactaTgtcaaggatctgggcattgt	12	6	2	3	rs55750661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124374487T>C	ENST00000291478.5	+	6	904	c.741T>C	c.(739-741)taT>taC	p.Y247Y	KALRN_ENST00000428018.2_Silent_p.Y215Y|KALRN_ENST00000459915.1_Silent_p.Y36Y|KALRN_ENST00000360013.3_Silent_p.Y1944Y|KALRN_ENST00000393496.1_Silent_p.Y285Y	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1943					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAAAGACTATGTCAAGGATC	0.493													t|||	8	0.00159744	0.0038	0.0029	5008	,	,		20398	0.0		0.001	False		,,,				2504	0.0				p.Y1944Y		Atlas-SNP	.											.	KALRN	556	.	0			c.T5832C						PASS	.	C	,	22,4384	29.0+/-57.7	0,22,2181	203	186	191		5832,741	-2.5	1	3	dbSNP_129	191	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_007064.3	,	0,24,6479	CC,CT,TT		0.0233,0.4993,0.1845	,	1944/2987,247/1290	124374487	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon39			AGACTATGTCAAG	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.741T>C	3.37:g.124374487T>C		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	140	67	0.478571	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	t	10.36	1.329889	0.24167	0.004993	2.33E-4	ENSG00000160145	ENST00000354186	.	.	.	5.42	-2.53	0.06326	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	4	.	.	.	.	13.5294	0.61613	0.0:0.5623:0.0:0.4377	rs55750661	.	.	.	T	1913	.	.	M	+	2	0	KALRN	125857177	0.434000	0.25570	0.977000	0.42913	0.995000	0.86356	-0.455000	0.06762	-0.595000	0.05828	-0.253000	0.11424	ATG	T|0.998;C|0.002	0.002	strong		0.493	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		C	124374487	T	C	124374487	2	2	22	1	0	0	0	0	0	0	0	1	7975	1471	51	2		2	KALRN	3	124374487	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4743	124374487	73647943	2244	7352										
KALRN	8997	hgsc.bcm.edu	37	chr3	124418879	124418879	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtgcgacttccagaataTggtgagtcccagcccagccc	10	13	0	2	rs56047676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124418879T>C	ENST00000291478.5	+	23	3067	c.2904T>C	c.(2902-2904)taT>taC	p.Y968Y	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Splice_Site_p.Y2665Y|KALRN_ENST00000428018.2_Splice_Site_p.Y936Y	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2664					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCCAGAATATGGTGAGTCCC	0.602													T|||	553	0.110423	0.1415	0.1182	5008	,	,		17183	0.0843		0.1024	False		,,,				2504	0.0982				p.Y2665Y		Atlas-SNP	.											.	KALRN	556	.	0			c.T7995C						PASS	.	T	,	662,3744	281.9+/-276.2	50,562,1591	109	101	104		7995,2904	-3.8	0.9	3	dbSNP_129	104	1047,7553	221.3+/-258.8	63,921,3316	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	KALRN	NM_001024660.3,NM_007064.3	,	113,1483,4907	CC,CT,TT		12.1744,15.025,13.1401	,	2665/2987,968/1290	124418879	1709,11297	2203	4300	6503	SO:0001630	splice_region_variant	8997	exon56			AGAATATGGTGAG	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2905+1T>C	3.37:g.124418879T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	227	0.10393772893772894	71	0.1443089430894309	46	0.1270718232044199	41	0.07167832167832168	69	0.09102902374670185	T	9.021	0.984823	0.18889	0.15025	0.121744	ENSG00000160145	ENST00000354186	.	.	.	6.17	-3.82	0.04281	.	.	.	.	.	T	0.00468	0.0015	.	.	.	0.09310	P	0.9999999999869995	.	.	.	.	.	.	T	0.43972	-0.9358	3	.	.	.	.	16.0872	0.81065	0.0:0.3113:0.0:0.6887	rs56047676	.	.	.	T	2634	.	.	M	+	2	0	KALRN	125901569	0.000000	0.05858	0.941000	0.38009	0.974000	0.67602	-3.477000	0.00458	-0.618000	0.05656	-0.290000	0.09829	ATG	T|0.879;C|0.121	0.121	strong		0.602	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	Silent	C	124418879	T	C	124418879	5	2	22	1	0	0	0	0	0	0	1	0	7975	1478	51	2	8373	2	KALRN	3	124418879	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44392	124418879	73603551	2245	7353										
KALRN	8997	hgsc.bcm.edu	37	chr3	124436234	124436234	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacatttggacataaaggTaataagaagtggcaacctgc	10	7	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124436234T>C	ENST00000291478.5	+	26	3487		c.e26+2		KALRN_ENST00000360013.3_Splice_Site|KALRN_ENST00000428018.2_Splice_Site	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACATAAAGGTAATAAGAAGT	0.512																																					.		Atlas-SNP	.											TRAD,colon,carcinoma,0,2	KALRN	556	2	0			c.8415+2T>C						scavenged	.						55	53	54					3																	124436234		2203	4300	6503	SO:0001630	splice_region_variant	8997	exon59			TAAAGGTAATAAG	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3324+2T>C	3.37:g.124436234T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	79	2	0.0253165	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Splice_Site	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973084	0.74246	.	.	ENSG00000160145	ENST00000360013;ENST00000354186;ENST00000291478;ENST00000428018	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6175	0.68560	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KALRN	125918924	1.000000	0.71417	0.934000	0.37439	0.741000	0.42261	7.864000	0.87037	2.032000	0.59987	0.455000	0.32223	.	.	.	none		0.512	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	Intron	C	124436234	T	C	124436234	5	2	22	1	0	0	0	0	0	0	1	0	7975	1652	57	2	8807	2	KALRN	3	124436234	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17355	124436234	73586196	2246	7354										
UMPS	7372	hgsc.bcm.edu	37	chr3	124456742	124456742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggcagcgaatcataatgGttctcccctttctataaagg	9	9	3	0	rs1801019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124456742G>C	ENST00000232607.2	+	3	744	c.638G>C	c.(637-639)gGt>gCt	p.G213A	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.G35A|UMPS_ENST00000536109.1_Missense_Mutation_p.G121A|UMPS_ENST00000413078.2_Missense_Mutation_p.G35A	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	213	OPRTase.		G -> A (in dbSNP:rs1801019). {ECO:0000269|PubMed:9042911, ECO:0000269|Ref.8}.		'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AATCATAATGGTTCTCCCCTT	0.488													G|||	931	0.185903	0.152	0.2622	5008	,	,		20706	0.1677		0.1491	False		,,,				2504	0.2342				p.G213A		Atlas-SNP	.											.	UMPS	43	.	0			c.G638C						PASS	.	G	ALA/GLY	681,3725	287.2+/-279.2	57,567,1579	83	79	81		638	3	0	3	dbSNP_89	81	1470,7130	280.1+/-294.3	122,1226,2952	yes	missense	UMPS	NM_000373.3	60	179,1793,4531	CC,CG,GG		17.093,15.4562,16.5385	benign	213/481	124456742	2151,10855	2203	4300	6503	SO:0001583	missense	7372	exon3			ATAATGGTTCTCC		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.638G>C	3.37:g.124456742G>C	ENSP00000232607:p.Gly213Ala	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	96	42	0.4375	NM_000373	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	372	0.17032967032967034	73	0.1483739837398374	87	0.24033149171270718	106	0.1853146853146853	106	0.13984168865435356	G	3.378	-0.126888	0.06795	0.154562	0.17093	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.69561	-0.01;-0.41;0.59;0.57	5.65	2.95	0.34219	.	0.206122	0.51477	D	0.000084	T	0.00039	0.0001	L	0.53561	1.675	0.24864	P	0.99232114	P;B	0.48407	0.91;0.0	B;B	0.42462	0.388;0.001	T	0.18147	-1.0346	9	0.08837	T	0.75	-3.2823	9.6638	0.39972	0.2127:0.0:0.7873:0.0	rs1801019;rs3172286;rs3772805;rs17843818;rs52826107;rs58177968;rs1801019	35;213	B5LY72;P11172	.;UMPS_HUMAN	A	213;121;35;35	ENSP00000232607:G213A;ENSP00000443577:G121A;ENSP00000444988:G35A;ENSP00000397965:G35A	ENSP00000232607:G213A	G	+	2	0	UMPS	125939432	0.999000	0.42202	0.001000	0.08648	0.003000	0.03518	3.284000	0.51708	0.503000	0.28060	-0.136000	0.14681	GGT	G|0.832;C|0.168	0.168	strong		0.488	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		C	124456742	G	C	124456742	3	2	22	1	0	0	0	0	1	0	0	0	16978	1261	44	4	648	4	UMPS	3	124456742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20508	124456742	73565688	2247	7355										
UMPS	7372	hgsc.bcm.edu	37	chr3	124462808	124462808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccacaagaagttattggCaaacgaggttccgatatcat	9	9	1	1	rs13146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124462808C>T	ENST00000232607.2	+	6	1426	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	UMPS_ENST00000538242.1_Silent_p.G262G|UMPS_ENST00000536109.1_Silent_p.G348G|UMPS_ENST00000413078.2_Silent_p.G165G	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	440	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AAGTTATTGGCAAACGAGGTT	0.418													C|||	932	0.186102	0.1505	0.2622	5008	,	,		17453	0.1677		0.1511	False		,,,				2504	0.2352				p.G440G		Atlas-SNP	.											.	UMPS	43	.	0			c.C1320T						PASS	.	C		681,3725	287.2+/-279.2	57,567,1579	152	139	144		1320	-0.3	0.6	3	dbSNP_52	144	1471,7129	280.8+/-294.7	123,1225,2952	no	coding-synonymous	UMPS	NM_000373.3		180,1792,4531	TT,TC,CC		17.1047,15.4562,16.5462		440/481	124462808	2152,10854	2203	4300	6503	SO:0001819	synonymous_variant	7372	exon6			TATTGGCAAACGA		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1320C>T	3.37:g.124462808C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	58	0.43609	NM_000373	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	ENST00000232607.2	37	CCDS3029.1																																																																																			C|0.830;A|0.001	.	strong		0.418	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		T	124462808	C	T	124462808	2	4	22	1	0	0	0	0	0	0	0	1	16978	697	25	2		2	UMPS	3	124462808	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6066	124462808	73559622	2248	7356										
ITGB5	3693	hgsc.bcm.edu	37	chr3	124492734	124492734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taacctgcatggcacttgcaTtccccgcagtgacactcgcc	8	16	0	1	rs16835978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124492734T>C	ENST00000296181.4	-	11	2015	c.1719A>G	c.(1717-1719)gaA>gaG	p.E573E	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	573	Cysteine-rich tandem repeats.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGCACTTGCATTCCCCGCAGT	0.557													T|||	247	0.0493211	0.1513	0.0317	5008	,	,		24075	0.001		0.0209	False		,,,				2504	0.0031				p.E573E		Atlas-SNP	.											ITGB5,mouth,carcinoma,-2,1	ITGB5	66	1	0			c.A1719G						PASS	.	T		571,3835	254.6+/-260.1	31,509,1663	88	71	77		1719	-0.9	1	3	dbSNP_123	77	207,8393	88.9+/-151.2	2,203,4095	no	coding-synonymous	ITGB5	NM_002213.3		33,712,5758	CC,CT,TT		2.407,12.9596,5.9819		573/800	124492734	778,12228	2203	4300	6503	SO:0001819	synonymous_variant	3693	exon11			CTTGCATTCCCCG	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1719A>G	3.37:g.124492734T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_002213	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1	83	0.038003663003663	60	0.12195121951219512	8	0.022099447513812154	0	0.0	15	0.01978891820580475	T	9.996	1.232276	0.22626	0.129596	0.02407	ENSG00000082781	ENST00000481591	.	.	.	5.19	-0.931	0.10438	.	.	.	.	.	T	0.00784	0.0026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01488	-1.1342	4	.	.	.	.	9.0215	0.36202	0.1444:0.6796:0.0:0.176	rs16835978;rs16835978	.	.	.	S	263	.	.	N	-	2	0	ITGB5	125975424	0.277000	0.24220	0.991000	0.47740	0.995000	0.86356	-0.327000	0.07955	-0.395000	0.07715	-0.250000	0.11733	AAT	T|0.943;C|0.057	0.057	strong		0.557	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		C	124492734	T	C	124492734	2	2	22	1	0	0	0	0	0	0	0	1	7898	1490	52	2		2	ITGB5	3	124492734	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29926	124492734	73529696	2249	7357										
ITGB5	3693	hgsc.bcm.edu	37	chr3	124515308	124515308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggcccatagatcttgccAaactcgctctcgaagcagga	9	12	2	1	rs1803825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124515308A>G	ENST00000296181.4	-	10	1916	c.1620T>C	c.(1618-1620)ttT>ttC	p.F540F		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	540	Cysteine-rich tandem repeats.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AGATCTTGCCAAACTCGCTCT	0.592													G|||	1686	0.336661	0.4788	0.3473	5008	,	,		20842	0.3194		0.1879	False		,,,				2504	0.3078				p.F540F		Atlas-SNP	.											.	ITGB5	66	.	0			c.T1620C						PASS	.	G		1841,2565	634.7+/-396.3	385,1071,747	123	111	115		1620	0.2	1	3	dbSNP_89	115	1725,6875	736.7+/-407.0	174,1377,2749	no	coding-synonymous	ITGB5	NM_002213.3		559,2448,3496	GG,GA,AA		20.0581,41.7839,27.4181		540/800	124515308	3566,9440	2203	4300	6503	SO:0001819	synonymous_variant	3693	exon10			CTTGCCAAACTCG	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1620T>C	3.37:g.124515308A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_002213	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1	674	0.3086080586080586	234	0.47560975609756095	110	0.30386740331491713	194	0.33916083916083917	136	0.17941952506596306	G	7.501	0.652613	0.14580	0.417839	0.200581	ENSG00000082781	ENST00000481591	.	.	.	5.26	0.242	0.15498	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.48340	-0.9044	3	.	.	.	.	6.595	0.22667	0.4816:0.0:0.4031:0.1153	rs1803825;rs17850113;rs1803825	.	.	.	S	230	.	.	L	-	2	0	ITGB5	125997998	0.001000	0.12720	0.994000	0.49952	0.591000	0.36615	-1.263000	0.02850	-0.106000	0.12110	-0.213000	0.12676	TTG	A|0.723;G|0.277	0.277	strong		0.592	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		G	124515308	A	G	124515308	2	3	22	1	0	0	0	0	0	0	0	1	7898	127	5	2		2	ITGB5	3	124515308	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22574	124515308	73507122	2250	7358										
ITGB5	3693	hgsc.bcm.edu	37	chr3	124515509	124515509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctcccgttgcacctggcGctgttgggttccagccccac	11	18	0	0	rs2291088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124515509G>A	ENST00000296181.4	-	10	1715	c.1419C>T	c.(1417-1419)agC>agT	p.S473S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	473	Cysteine-rich tandem repeats.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCACCTGGCGCTGTTGGGTT	0.667													G|||	817	0.163139	0.118	0.2565	5008	,	,		18336	0.1657		0.1521	False		,,,				2504	0.1667				p.S473S		Atlas-SNP	.											.	ITGB5	66	.	0			c.C1419T						PASS	.	G		543,3863	239.6+/-250.7	41,461,1701	31	32	32		1419	1.3	0.1	3	dbSNP_100	32	1387,7213	261.4+/-283.8	108,1171,3021	no	coding-synonymous	ITGB5	NM_002213.3		149,1632,4722	AA,AG,GG		16.1279,12.3241,14.8393		473/800	124515509	1930,11076	2203	4300	6503	SO:0001819	synonymous_variant	3693	exon10			CCTGGCGCTGTTG	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1419C>T	3.37:g.124515509G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	126	67	0.531746	NM_002213	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1	359|359	0.16437728937728938|0.16437728937728938	59|59	0.11991869918699187|0.11991869918699187	84|84	0.23204419889502761|0.23204419889502761	107|107	0.18706293706293706|0.18706293706293706	109|109	0.1437994722955145|0.1437994722955145	G|G	0.422|0.422	-0.907623|-0.907623	0.02434|0.02434	0.123241|0.123241	0.161279|0.161279	ENSG00000082781|ENSG00000082781	ENST00000481591|ENST00000496703	.|.	.|.	.|.	5.26|5.26	1.33|1.33	0.21861|0.21861	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.10245|0.10245	-1.0638|-1.0638	3|3	.|.	.|.	.|.	.|.	9.2896|9.2896	0.37778|0.37778	0.2929:0.0:0.7071:0.0|0.2929:0.0:0.7071:0.0	rs2291088;rs3197039;rs17850112;rs2291088|rs2291088;rs3197039;rs17850112;rs2291088	.|.	.|.	.|.	V|C	163|240	.|.	.|.	A|R	-|-	2|1	0|0	ITGB5|ITGB5	125998199|125998199	0.995000|0.995000	0.38212|0.38212	0.118000|0.118000	0.21660|0.21660	0.019000|0.019000	0.09904|0.09904	2.252000|2.252000	0.43196|0.43196	0.054000|0.054000	0.16065|0.16065	0.563000|0.563000	0.77884|0.77884	GCG|CGC	G|0.851;A|0.149	0.149	strong		0.667	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		A	124515509	G	A	124515509	2	1	22	1	0	0	0	0	0	0	0	1	7898	1078	38	1		1	ITGB5	3	124515509	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201	124515509	73506921	2251	7359										
HEG1	57493	hgsc.bcm.edu	37	chr3	124731689	124731689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcaaagggatcaatccagTggtagcatccacaatcactc	9	11	3	0	rs78680419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124731689T>A	ENST00000311127.4	-	6	2801	c.2734A>T	c.(2734-2736)Act>Tct	p.T912S	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	912					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATCAATCCAGTGGTAGCATCC	0.488													T|||	1425	0.284545	0.3449	0.2896	5008	,	,		25262	0.4633		0.0905	False		,,,				2504	0.2147				p.T912S		Atlas-SNP	.											.	HEG1	109	.	0			c.A2734T						PASS	.	T	SER/THR	1233,2799		179,875,962	156	159	158		2734	2.3	0	3	dbSNP_131	158	738,7614		44,650,3482	yes	missense	HEG1	NM_020733.1	58	223,1525,4444	AA,AT,TT		8.8362,30.5804,15.9157	benign	912/1382	124731689	1971,10413	2016	4176	6192	SO:0001583	missense	57493	exon6			ATCCAGTGGTAGC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2734A>T	3.37:g.124731689T>A	ENSP00000311502:p.Thr912Ser	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	318	157	0.493711	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	571	0.26144688644688646	163	0.3313008130081301	85	0.23480662983425415	249	0.4353146853146853	74	0.09762532981530343	T	11.12	1.544628	0.27563	0.305804	0.088362	ENSG00000173706	ENST00000311127	D	0.89552	-2.53	4.78	2.31	0.28768	.	0.382752	0.18394	N	0.142573	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.31318	0.319;0.214	B;B	0.31686	0.134;0.063	T	0.23583	-1.0184	9	0.49607	T	0.09	.	4.9603	0.14063	0.1617:0.0872:0.0:0.7511	.	912;912	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	S	912	ENSP00000311502:T912S	ENSP00000311502:T912S	T	-	1	0	HEG1	126214379	0.938000	0.31826	0.001000	0.08648	0.064000	0.16182	0.798000	0.27014	0.381000	0.24851	0.533000	0.62120	ACT	T|0.772;A|0.228	0.228	strong		0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		A	124731689	T	A	124731689	3	1	22	1	0	0	0	0	1	0	0	0	7044	1696	59	5	1459	5	HEG1	3	124731689	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	216180	124731689	73290741	2252	7360										
HEG1	57493	hgsc.bcm.edu	37	chr3	124732426	124732426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagaagaagaagaggagGaggaggaagaggaggaggag	21	1	0	6	rs113838848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124732426G>A	ENST00000311127.4	-	6	2064	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	666	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						agaagaggaggaggaggaaga	0.493													G|||	86	0.0171725	0.0598	0.0101	5008	,	,		20835	0.0		0.0	False		,,,				2504	0.0				p.S666F		Atlas-SNP	.											.	HEG1	109	.	0			c.C1997T						PASS	.	G	PHE/SER	183,4127		5,173,1977	55	61	59		1997	0.6	0	3	dbSNP_132	59	1,8509		0,1,4254	yes	missense	HEG1	NM_020733.1	155	5,174,6231	AA,AG,GG		0.0118,4.2459,1.4353	probably-damaging	666/1382	124732426	184,12636	2155	4255	6410	SO:0001583	missense	57493	exon6			GAGGAGGAGGAGG	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1997C>T	3.37:g.124732426G>A	ENSP00000311502:p.Ser666Phe	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	130	72	0.553846	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	28	0.01282051282051282	24	0.04878048780487805	4	0.011049723756906077	0	0.0	0	0.0	G	6.371	0.436495	0.12104	0.042459	1.18E-4	ENSG00000173706	ENST00000311127	D	0.89617	-2.54	0.635	0.635	0.17723	.	22.921900	0.01454	U	0.015599	T	0.57359	0.2048	N	0.08118	0	0.09310	N	1	D;D	0.58268	0.982;0.972	P;P	0.58013	0.452;0.831	T	0.72865	-0.4163	9	0.66056	D	0.02	.	.	.	.	.	666;666	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	F	666	ENSP00000311502:S666F	ENSP00000311502:S666F	S	-	2	0	HEG1	126215116	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.345000	0.19979	0.619000	0.30197	0.313000	0.20887	TCC	G|0.986;A|0.014	0.014	strong		0.493	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		A	124732426	G	A	124732426	3	1	22	1	0	0	0	0	1	0	0	0	7044	1174	41	2	2196	2	HEG1	3	124732426	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	737	124732426	73290004	2253	7361										
SLC12A8	84561	hgsc.bcm.edu	37	chr3	124826408	124826408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctgagtcccttcgctcTtggaagtctgcttgttccag	11	12	2	1	rs6773138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:124826408T>C	ENST00000393469.4	-	9	1671	c.1622A>G	c.(1621-1623)aAg>aGg	p.K541R	SLC12A8_ENST00000469902.1_Missense_Mutation_p.K541R|SLC12A8_ENST00000423114.2_Missense_Mutation_p.K570R|SLC12A8_ENST00000314584.7_Missense_Mutation_p.K294R|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.K342R	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	541			K -> R (in dbSNP:rs6773138).		potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						CCCTTCGCTCTTGGAAGTCTG	0.557													C|||	649	0.129593	0.2912	0.0548	5008	,	,		19346	0.0635		0.0278	False		,,,				2504	0.137				p.K541R		Atlas-SNP	.											.	SLC12A8	81	.	0			c.A1622G						PASS	.	C	ARG/LYS,ARG/LYS	1016,3172		125,766,1203	97	105	102		1622,1622	0.3	0	3	dbSNP_116	102	278,8192		3,272,3960	yes	missense,missense	SLC12A8	NM_001195483.1,NM_024628.5	26,26	128,1038,5163	CC,CT,TT		3.2822,24.2598,10.2228	benign,benign	541/715,541/715	124826408	1294,11364	2094	4235	6329	SO:0001583	missense	84561	exon10			TCGCTCTTGGAAG		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1622A>G	3.37:g.124826408T>C	ENSP00000377112:p.Lys541Arg	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	207	207	1	NM_024628	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	207	0.09478021978021978	139	0.28252032520325204	16	0.04419889502762431	35	0.06118881118881119	17	0.022427440633245383	C	3.631	-0.075615	0.07184	0.242598	0.032822	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;T	0.88201	-1.84;-2.34;-2.35;-2.34;-1.44	5.27	0.269	0.15631	.	.	.	.	.	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.002	T	0.08827	-1.0703	8	0.10902	T	0.67	.	5.3238	0.15895	0.0948:0.5567:0.0932:0.2553	rs6773138;rs52837397;rs56737175;rs6773138	294;570;541;342	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	R	342;541;570;541;294	ENSP00000415713:K342R;ENSP00000377112:K541R;ENSP00000404243:K570R;ENSP00000418783:K541R;ENSP00000323632:K294R	ENSP00000323632:K294R	K	-	2	0	SLC12A8	126309098	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.682000	0.05185	-0.078000	0.12730	-1.736000	0.00690	AAG	T|0.903;C|0.097	0.097	strong		0.557	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		C	124826408	T	C	124826408	3	2	22	1	0	0	0	0	1	0	0	0	14389	1609	56	3	542	3	SLC12A8	3	124826408	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93982	124826408	73196022	2254	7362										
SNX4	8723	hgsc.bcm.edu	37	chr3	125179676	125179676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcataatgttcttcatcttCcaaaatatcatcaatagaag	4	8	5	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:125179676C>T	ENST00000251775.4	-	10	907	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SNX4_ENST00000536067.1_Missense_Mutation_p.E150K	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	295					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCTTCATCTTCCAAAATATCA	0.333																																					p.E295K		Atlas-SNP	.											.	SNX4	29	.	0			c.G883A						PASS	.						85	82	83					3																	125179676		2202	4298	6500	SO:0001583	missense	8723	exon10			CATCTTCCAAAAT	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.883G>A	3.37:g.125179676C>T	ENSP00000251775:p.Glu295Lys	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	196	94	0.479592	NM_003794	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053128	0.93793	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.76578	-1.03;-1.03	5.34	5.34	0.76211	.	0.513245	0.21868	N	0.067933	D	0.86451	0.5936	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.83631	0.0145	10	0.29301	T	0.29	-16.9581	17.4034	0.87467	0.0:1.0:0.0:0.0	.	295	O95219	SNX4_HUMAN	K	295;150	ENSP00000251775:E295K;ENSP00000440824:E150K	ENSP00000251775:E295K	E	-	1	0	SNX4	126662366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.776000	0.95493	0.650000	0.86243	GAA	.	.	none		0.333	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		T	125179676	C	T	125179676	3	4	22	1	0	0	0	0	1	0	0	0	14904	864	30	2	489	2	SNX4	3	125179676	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	353268	125179676	72842754	2255	7363										
ALG1L	200810	hgsc.bcm.edu	37	chr3	125649403	125649403	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcagatgtggctacctgCagagctgccagttcctctga	13	11	1	3	rs7615952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:125649403C>A	ENST00000340333.3	-	5	508	c.345G>T	c.(343-345)ctG>ctT	p.L115L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	115							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGGCTACCTGCAGAGCTGCCA	0.577													.|||	1172	0.234026	0.4841	0.1527	5008	,	,		17875	0.1071		0.172	False		,,,				2504	0.1483				p.L135L		Atlas-SNP	.											.	ALG1L	12	.	0			c.G405T						PASS	.	C	,	1082,1666		199,684,491	60	56	57		345,405	0	0.8	3	dbSNP_116	57	729,3933		73,583,1675	no	coding-synonymous,coding-synonymous	ALG1L	NM_001015050.2,NM_001195223.1	,	272,1267,2166	AA,AC,CC		15.6371,39.3741,24.4399	,	115/188,135/208	125649403	1811,5599	1374	2331	3705	SO:0001819	synonymous_variant	200810	exon6			TACCTGCAGAGCT	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.345G>T	3.37:g.125649403C>A		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	21	21	1	NM_001195223	D3DNA5	Silent	SNP	ENST00000340333.3	37	CCDS33840.1																																																																																			.	.	weak		0.577	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		A	125649403	C	A	125649403	2	1	22	1	0	0	0	0	0	0	0	1	517	697	25	4		4	ALG1L	3	125649403	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	469727	125649403	72373027	2256	7364										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125826003	125826003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatcagcaaaccgagagaTgatcatgacaggcccgaagg	11	12	2	3	rs4646750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:125826003T>C	ENST00000393434.2	-	21	2783	c.2434A>G	c.(2434-2436)Atc>Gtc	p.I812V	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.I812V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.I711V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.I822V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	812	Aldehyde dehydrogenase.		I -> V (in dbSNP:rs4646750).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AACCGAGAGATGATCATGACA	0.517													T|||	324	0.0646965	0.112	0.0692	5008	,	,		20531	0.0308		0.0646	False		,,,				2504	0.0327				p.I822V		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.A2464G						PASS	.	T	VAL/ILE	510,3896	235.5+/-248.0	23,464,1716	173	150	157		2434	2.8	1	3	dbSNP_111	157	652,7948	165.7+/-217.8	25,602,3673	yes	missense	ALDH1L1	NM_012190.2	29	48,1066,5389	CC,CT,TT		7.5814,11.5751,8.9343	benign	812/903	125826003	1162,11844	2203	4300	6503	SO:0001583	missense	10840	exon21			GAGAGATGATCAT	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2434A>G	3.37:g.125826003T>C	ENSP00000377083:p.Ile812Val	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_001270364	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	150	0.06868131868131869	55	0.11178861788617886	26	0.0718232044198895	18	0.03146853146853147	51	0.06728232189973615	T	8.039	0.763418	0.15914	0.115751	0.075814	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	3.98	2.83	0.33086	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.143965	0.44902	N	0.000405	T	0.00073	0.0002	N	0.11064	0.09	0.09310	P	0.9999999999999973	B;B;B	0.28026	0.151;0.198;0.039	B;B;B	0.31016	0.123;0.103;0.069	T	0.41574	-0.9501	9	0.40728	T	0.16	.	7.2766	0.26288	0.0:0.109:0.0:0.891	rs4646750;rs56475654;rs59802481;rs4646750	711;347;812	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	V	822;812;711;812	ENSP00000273450:I822V;ENSP00000420293:I812V;ENSP00000395881:I711V;ENSP00000377083:I812V	ENSP00000273450:I822V	I	-	1	0	ALDH1L1	127308693	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.912000	0.39946	0.606000	0.29965	0.260000	0.18958	ATC	T|0.919;C|0.081	0.081	strong		0.517	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		C	125826003	T	C	125826003	3	2	22	1	0	0	0	0	1	0	0	0	494	1464	51	2	286	2	ALDH1L1	3	125826003	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	176600	125826003	72196427	2257	7365										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125854404	125854404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagccggccccggtcccgCgcactgatcttcccccaccg	9	21	2	1	rs114109734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:125854404C>T	ENST00000393434.2	-	12	1795	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	ALDH1L1_ENST00000452905.2_Silent_p.A381A|ALDH1L1_ENST00000472186.1_Silent_p.A482A|ALDH1L1_ENST00000273450.3_Silent_p.A492A|ALDH1L1_ENST00000393431.2_Silent_p.A482A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	482	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCGGTCCCGCGCACTGATCT	0.632													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		15773	0.0		0.0	False		,,,				2504	0.0				p.A492A		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.G1476A						PASS	.	C		49,4357	50.9+/-86.3	0,49,2154	136	102	114		1446	-7.5	0	3	dbSNP_133	114	0,8600		0,0,4300	no	coding-synonymous	ALDH1L1	NM_012190.2		0,49,6454	TT,TC,CC		0.0,1.1121,0.3767		482/903	125854404	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	10840	exon12			GTCCCGCGCACTG	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1446G>A	3.37:g.125854404C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_001270364	B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	CCDS3034.1																																																																																			C|0.996;T|0.004	0.004	strong		0.632	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125854404	C	T	125854404	2	4	22	1	0	0	0	0	0	0	0	1	494	755	27	1		1	ALDH1L1	3	125854404	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28401	125854404	72168026	2258	7366										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125855665	125855665	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccctcggcatccacgaacTcccccccaatgaagagctgg	9	18	0	2	rs9282691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:125855665T>G	ENST00000393434.2	-	11	1635	c.1286A>C	c.(1285-1287)gAg>gCg	p.E429A	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E429A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E429A|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E439A|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E328A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	429	Aldehyde dehydrogenase.		E -> A (in dbSNP:rs9282691).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATCCACGAACTCCCCCCCAAT	0.587													T|||	348	0.0694888	0.2368	0.0331	5008	,	,		19282	0.0		0.0	False		,,,				2504	0.0123				p.E439A		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.A1316C						PASS	.	T	ALA/GLU	884,3522	318.8+/-295.8	95,694,1414	99	89	92		1286	-6.2	0	3	dbSNP_126	92	5,8595	3.0+/-9.4	0,5,4295	yes	missense	ALDH1L1	NM_012190.2	107	95,699,5709	GG,GT,TT		0.0581,20.0635,6.8353	benign	429/903	125855665	889,12117	2203	4300	6503	SO:0001583	missense	10840	exon11			ACGAACTCCCCCC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1286A>C	3.37:g.125855665T>G	ENSP00000377083:p.Glu429Ala	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_001270364	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	118	0.05402930402930403	104	0.21138211382113822	14	0.03867403314917127	0	0.0	0	0.0	T	4.666	0.123895	0.08931	0.200635	5.81E-4	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;3.08	3.67	-6.25	0.02039	Acyl carrier protein-like (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	2.485370	0.02081	N	0.052371	T	0.00012	0.0000	L	0.49126	1.545	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.35724	-0.9777	9	0.51188	T	0.08	.	3.3174	0.07038	0.1797:0.0968:0.1379:0.5855	rs9282691;rs52830184;rs60301528;rs9282691	328;481;429	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	A	439;429;328;429;429	ENSP00000273450:E439A;ENSP00000420293:E429A;ENSP00000395881:E328A;ENSP00000377083:E429A;ENSP00000377081:E429A	ENSP00000273450:E439A	E	-	2	0	ALDH1L1	127338355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.150000	0.16263	-1.451000	0.01933	-0.402000	0.06365	GAG	T|0.935;G|0.065	0.065	strong		0.587	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		G	125855665	T	G	125855665	3	3	22	1	0	0	0	0	1	0	0	0	494	1551	54	5	1474	5	ALDH1L1	3	125855665	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1261	125855665	72166765	2259	7367										
CCDC37	348807	hgsc.bcm.edu	37	chr3	126137456	126137456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactctgctggcccccagtaTgccctggatgtcaagcggag	12	14	2	0	rs76764772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:126137456T>C	ENST00000352312.1	+	7	588	c.489T>C	c.(487-489)taT>taC	p.Y163Y	CCDC37_ENST00000393425.1_Silent_p.Y164Y|CCDC37_ENST00000505024.1_Silent_p.Y164Y	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	163										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCCCCCAGTATGCCCTGGATG	0.667													T|||	283	0.0565096	0.2057	0.0159	5008	,	,		14709	0.0		0.0	False		,,,				2504	0.0				p.Y163Y		Atlas-SNP	.											.	CCDC37	69	.	0			c.T489C						PASS	.	T		794,3608		80,634,1487	34	36	35		489	-6.4	0	3	dbSNP_131	35	10,8588		0,10,4289	no	coding-synonymous	CCDC37	NM_182628.2		80,644,5776	CC,CT,TT		0.1163,18.0373,6.1846		163/612	126137456	804,12196	2201	4299	6500	SO:0001819	synonymous_variant	348807	exon7			CCAGTATGCCCTG	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.489T>C	3.37:g.126137456T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																			T|0.941;C|0.059	0.059	strong		0.667	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		C	126137456	T	C	126137456	2	2	22	1	0	0	0	0	0	0	0	1	2809	1471	51	2		2	CCDC37	3	126137456	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	281791	126137456	71884974	2260	7368										
CCDC37	348807	hgsc.bcm.edu	37	chr3	126142189	126142189	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgaactctcccatccccccCacgcaggaggacaccgacag	8	19	1	0	rs78360289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:126142189C>A	ENST00000352312.1	+	12	1203	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	CCDC37_ENST00000505024.1_Silent_p.P369P|CCDC37_ENST00000393425.1_Silent_p.P369P	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	368										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCATCCCCCCCACGCAGGAGG	0.662																																					p.P368P		Atlas-SNP	.											.	CCDC37	69	.	0			c.C1104A						PASS	.						41	36	38					3																	126142189		2203	4300	6503	SO:0001819	synonymous_variant	348807	exon12			CCCCCCCACGCAG	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1104C>A	3.37:g.126142189C>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	148	79	0.533784	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																			C|0.992;T|0.008	.	alt		0.662	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126142189	C	A	126142189	2	1	22	1	0	0	0	0	0	0	0	1	2809	581	21	4		4	CCDC37	3	126142189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4733	126142189	71880241	2261	7369										
C3orf22	152065	hgsc.bcm.edu	37	chr3	126270923	126270923	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcgtttgtgacctcccaGggctgcaggggctcagggtc	16	11	1	1	rs34760151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:126270923G>C	ENST00000318225.2	-	3	510	c.132C>G	c.(130-132)ccC>ccG	p.P44P		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	44										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGACCTCCCAGGGCTGCAGGG	0.602													G|||	481	0.0960463	0.2685	0.0403	5008	,	,		18751	0.002		0.0288	False		,,,				2504	0.0685				p.P44P		Atlas-SNP	.											.	C3orf22	17	.	0			c.C132G						PASS	.	G		894,3512	348.0+/-309.7	98,698,1407	83	77	79		132	0	0	3	dbSNP_126	79	294,8306	108.0+/-168.7	6,282,4012	no	coding-synonymous	C3orf22	NM_152533.1		104,980,5419	CC,CG,GG		3.4186,20.2905,9.1342		44/142	126270923	1188,11818	2203	4300	6503	SO:0001819	synonymous_variant	152065	exon3			CTCCCAGGGCTGC		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.132C>G	3.37:g.126270923G>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	106	50	0.471698	NM_152533	B3KUS9	Silent	SNP	ENST00000318225.2	37	CCDS3040.1																																																																																			G|0.912;C|0.088	0.088	strong		0.602	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		C	126270923	G	C	126270923	2	2	22	1	0	0	0	0	0	0	0	1	2215	987	35	4		4	C3orf22	3	126270923	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128734	126270923	71751507	2262	7370										
C3orf22	152065	hgsc.bcm.edu	37	chr3	126272160	126272160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacctgtacggaaacttcTtggcaaaattctcctgggcc	9	13	2	0	rs146981008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:126272160T>C	ENST00000318225.2	-	2	452	c.74A>G	c.(73-75)aAg>aGg	p.K25R		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	25										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CGGAAACTTCTTGGCAAAATT	0.562													T|||	5	0.000998403	0.0008	0.0058	5008	,	,		17166	0.0		0.0	False		,,,				2504	0.0				p.K25R		Atlas-SNP	.											.	C3orf22	17	.	0			c.A74G						PASS	.	T	ARG/LYS	5,4401	9.9+/-24.2	0,5,2198	242	246	245		74	1.9	0.5	3	dbSNP_134	245	0,8600		0,0,4300	yes	missense	C3orf22	NM_152533.1	26	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	possibly-damaging	25/142	126272160	5,13001	2203	4300	6503	SO:0001583	missense	152065	exon2			AACTTCTTGGCAA		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.74A>G	3.37:g.126272160T>C	ENSP00000316644:p.Lys25Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_152533	B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	CCDS3040.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	T	9.445	1.088997	0.20390	0.001135	0.0	ENSG00000180697	ENST00000318225	.	.	.	2.96	1.87	0.25490	.	0.557035	0.13645	N	0.372704	T	0.11750	0.0286	N	0.12746	0.255	0.21604	N	0.999627	B	0.17667	0.023	B	0.17433	0.018	T	0.19877	-1.0292	9	0.22109	T	0.4	.	3.4088	0.07351	0.0:0.2278:0.0:0.7722	.	25	Q8N5N4	CC022_HUMAN	R	25	.	ENSP00000316644:K25R	K	-	2	0	C3orf22	127754850	0.013000	0.17824	0.465000	0.27155	0.240000	0.25518	0.519000	0.22862	0.602000	0.29896	0.402000	0.26972	AAG	T|0.999;C|0.001	0.001	strong		0.562	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		C	126272160	T	C	126272160	3	2	22	1	0	0	0	0	1	0	0	0	2215	1609	56	3	363	3	C3orf22	3	126272160	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1237	126272160	71750270	2263	7371										
MCM2	4171	hgsc.bcm.edu	37	chr3	127323592	127323592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgaccgggaggctggccgGggcctgggccgcatgcgccg	20	14	0	1	rs2257836	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127323592G>A	ENST00000265056.7	+	3	622	c.378G>A	c.(376-378)cgG>cgA	p.R126R		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	126	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						AGGCTGGCCGGGGCCTGGGCC	0.672													G|||	309	0.0617013	0.0219	0.0014	5008	,	,		15255	0.2599		0.006	False		,,,				2504	0.0112				p.R126R		Atlas-SNP	.											.	MCM2	79	.	0			c.G378A						PASS	.	G		70,4326		1,68,2129	14	17	16		378	-2.4	1	3	dbSNP_100	16	12,8570		0,12,4279	no	coding-synonymous	MCM2	NM_004526.2		1,80,6408	AA,AG,GG		0.1398,1.5924,0.6318		126/905	127323592	82,12896	2198	4291	6489	SO:0001819	synonymous_variant	4171	exon3			TGGCCGGGGCCTG	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.378G>A	3.37:g.127323592G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	17	0.404762	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	189	0.08653846153846154	16	0.032520325203252036	0	0.0	166	0.2902097902097902	7	0.009234828496042216	G	11.20	1.568710	0.28003	0.015924	0.001398	ENSG00000073111	ENST00000539922	.	.	.	5.29	-2.37	0.06643	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.99999999733741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7759	0.01032	0.266:0.1952:0.3286:0.2103	rs2257836;rs17496916	.	.	.	.	-1	.	.	.	+	.	.	MCM2	128806282	0.310000	0.24527	0.972000	0.41901	0.963000	0.63663	-0.451000	0.06795	-0.314000	0.08716	0.591000	0.81541	.	G|0.902;A|0.098	0.098	strong		0.672	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127323592	G	A	127323592	2	1	22	1	0	0	0	0	0	0	0	1	9386	1219	43	2		2	MCM2	3	127323592	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1051432	127323592	70698838	2264	7372										
MCM2	4171	hgsc.bcm.edu	37	chr3	127323830	127323830	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaggacgaggagatgatCgagagcatcgagaacctgga	17	6	0	4	rs893293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127323830C>T	ENST00000265056.7	+	4	748	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	168	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						AGGAGATGATCGAGAGCATCG	0.667													C|||	2985	0.596046	0.4849	0.6124	5008	,	,		16738	0.626		0.7783	False		,,,				2504	0.5164				p.I168I		Atlas-SNP	.											.	MCM2	79	.	0			c.C504T						PASS	.	C		2321,2085	603.5+/-390.1	599,1123,481	66	62	63		504	-5.8	0.9	3	dbSNP_92	63	6484,2116	715.2+/-406.0	2427,1630,243	no	coding-synonymous	MCM2	NM_004526.2		3026,2753,724	TT,TC,CC		24.6047,47.3218,32.3005		168/905	127323830	8805,4201	2203	4300	6503	SO:0001819	synonymous_variant	4171	exon4			GATGATCGAGAGC	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.504C>T	3.37:g.127323830C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	164	85	0.518293	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	1426	0.6529304029304029	244	0.4959349593495935	222	0.6132596685082873	368	0.6433566433566433	592	0.7810026385224275	C	11.66	1.705740	0.30232	0.526782	0.753953	ENSG00000073111	ENST00000491422	.	.	.	5.29	-5.75	0.02384	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.23833	-1.0177	3	.	.	.	-28.0212	7.8484	0.29440	0.202:0.2493:0.0:0.5488	rs893293;rs1627583;rs17538467;rs17850234;rs17851129;rs17851499;rs59954953;rs893293	.	.	.	L	31	.	.	S	+	2	0	MCM2	128806520	0.006000	0.16342	0.922000	0.36590	0.986000	0.74619	-1.096000	0.03353	-0.956000	0.03631	-0.469000	0.05056	TCG	C|0.348;T|0.652	0.652	strong		0.667	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127323830	C	T	127323830	2	4	22	1	0	0	0	0	0	0	0	1	9386	874	31	1		1	MCM2	3	127323830	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	238	127323830	70698600	2265	7373										
MCM2	4171	hgsc.bcm.edu	37	chr3	127340583	127340583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacaagttcagccacgaCctgaaaaggaaaatgatcct	8	9	1	3	rs6794323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127340583C>T	ENST00000265056.7	+	16	2926	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	894					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCAGCCACGACCTGAAAAGGA	0.498													C|||	319	0.0636981	0.2269	0.0231	5008	,	,		22127	0.0		0.003	False		,,,				2504	0.0				p.D894D		Atlas-SNP	.											.	MCM2	79	.	0			c.C2682T						PASS	.	C		764,3642	311.1+/-291.9	56,652,1495	99	93	95		2682	4.5	1	3	dbSNP_116	95	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	MCM2	NM_004526.2		56,660,5787	TT,TC,CC		0.093,17.34,5.9357		894/905	127340583	772,12234	2203	4300	6503	SO:0001819	synonymous_variant	4171	exon16			CCACGACCTGAAA	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2682C>T	3.37:g.127340583C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	90	41	0.455556	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	133	0.060897435897435896	124	0.25203252032520324	9	0.024861878453038673	0	0.0	0	0.0	C	2.284	-0.364112	0.05103	0.1734	9.3E-4	ENSG00000073111	ENST00000491422	.	.	.	5.38	4.5	0.54988	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.23013	-1.0200	3	.	.	.	-47.6264	6.5614	0.22489	0.0:0.6888:0.0:0.3112	rs6794323;rs17538760;rs56589702;rs6794323	.	.	.	I	826	.	.	T	+	2	0	MCM2	128823273	1.000000	0.71417	0.993000	0.49108	0.308000	0.27856	1.539000	0.36104	1.263000	0.44181	0.313000	0.20887	ACC	C|0.930;T|0.070	0.070	strong		0.498	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127340583	C	T	127340583	2	4	22	1	0	0	0	0	0	0	0	1	9386	506	18	2		2	MCM2	3	127340583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16753	127340583	70681847	2266	7374										
PODXL2	50512	hgsc.bcm.edu	37	chr3	127379364	127379369	+	In_Frame_Del	DEL	GAAGAG	GAAGAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcccagagaggaggaaGaagaggaagaggaagaggag					rs200281996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAAGAG	GAAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127379364_127379369delGAAGAG	ENST00000342480.6	+	3	532_537	c.493_498delGAAGAG	c.(493-498)gaagagdel	p.EE171del		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	171	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						agaggaggaagaagaggaagaggaag	0.553														37	0.00738818	0.0212	0.0014	5008	,	,		22508	0.005		0.0	False		,,,				2504	0.0031				p.164_166del		Pindel,Atlas-Indel	.											.	PODXL2	53	.	0			c.492_497del						PASS	.			61,4203		1,59,2072						-4.8	0.4			53	3,8251		1,1,4125	no	coding	PODXL2	NM_015720.2		2,60,6197	A1A1,A1R,RR		0.0363,1.4306,0.5113				64,12454				SO:0001651	inframe_deletion	50512	exon3			.	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.493_498delGAAGAG	3.37:g.127379370_127379375delGAAGAG	ENSP00000345359:p.Glu171_Glu172del	Somatic	95	.	.		WXS	Illumina HiSeq	Phase_I	79	29	0.367	NM_015720	Q6UVY4|Q8WUV6	In_Frame_Del	DEL	ENST00000342480.6	37	CCDS3044.1																																																																																			GAAGAG|0.992;-|0.008	0.008	strong		0.553	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		-	127379369	GAAGAG	-	127379364	7	5	22	1	0	1	0	1	0	0	0	0	12181	943	33	0	503	0	PODXL2	3	127379364	In_Frame_Del	DEL	GAAGAG	TCGA-G8-6324-01A-11D-2210-10	38781	127379364	70643066	2267	7375										
PODXL2	50512	hgsc.bcm.edu	37	chr3	127387388	127387388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggcacatctctctgagCaagcccagcgagaaggagca	12	13	2	2	rs34716022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127387388C>T	ENST00000342480.6	+	5	1350	c.1311C>T	c.(1309-1311)agC>agT	p.S437S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	437					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCTCTCTGAGCAAGCCCAGCG	0.682													C|||	315	0.0628994	0.2239	0.0231	5008	,	,		17746	0.0		0.003	False		,,,				2504	0.0				p.S437S		Atlas-SNP	.											.	PODXL2	53	.	0			c.C1311T						PASS	.	C		750,3654		52,646,1504	22	19	20		1311	4.3	1	3	dbSNP_126	20	8,8586		0,8,4289	no	coding-synonymous	PODXL2	NM_015720.2		52,654,5793	TT,TC,CC		0.0931,17.03,5.8317		437/606	127387388	758,12240	2202	4297	6499	SO:0001819	synonymous_variant	50512	exon5			TCTGAGCAAGCCC	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1311C>T	3.37:g.127387388C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	253	133	0.525692	NM_015720	Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	CCDS3044.1																																																																																			C|0.938;T|0.062	0.062	strong		0.682	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		T	127387388	C	T	127387388	2	4	22	1	0	0	0	0	0	0	0	1	12181	709	25	2		2	PODXL2	3	127387388	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8024	127387388	70635042	2268	7376										
KBTBD12	166348	hgsc.bcm.edu	37	chr3	127642814	127642814	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtttttgttatgatcctGtatcacggaaaacctatttc	6	9	1	1	rs61268888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127642814G>C	ENST00000405109.1	+	2	1377	c.910G>C	c.(910-912)Gta>Cta	p.V304L	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.V304L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	304										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTATGATCCTGTATCACGGAA	0.413													G|||	957	0.191094	0.1664	0.085	5008	,	,		17625	0.2331		0.1233	False		,,,				2504	0.3262				p.V304L		Atlas-SNP	.											.	KBTBD12	41	.	0			c.G910C						PASS	.	G	LEU/VAL	649,3191		49,551,1320	134	128	130		910	-1.1	0	3	dbSNP_129	130	1054,7168		63,928,3120	yes	missense	KBTBD12	NM_207335.2	32	112,1479,4440	CC,CG,GG		12.8193,16.901,14.1187	benign	304/624	127642814	1703,10359	1920	4111	6031	SO:0001583	missense	166348	exon1			GATCCTGTATCAC		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.910G>C	3.37:g.127642814G>C	ENSP00000385957:p.Val304Leu	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	202	92	0.455446	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	343	0.15705128205128205	89	0.18089430894308944	36	0.09944751381215469	122	0.21328671328671328	96	0.1266490765171504	G	2.653	-0.281515	0.05642	0.16901	0.128193	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.66099	-0.19;-0.19	5.47	-1.1	0.09872	Kelch-type beta propeller (1);	.	.	.	.	T	0.00039	0.0001	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	8	0.33141	T	0.24	.	2.4812	0.04587	0.1929:0.1041:0.4764:0.2266	rs61268888;rs61734842	304	Q3ZCT8	KBTBC_HUMAN	L	304	ENSP00000385957:V304L;ENSP00000385879:V304L	ENSP00000385957:V304L	V	+	1	0	KBTBD12	129125504	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	0.528000	0.23002	0.062000	0.16340	-0.224000	0.12420	GTA	G|0.846;C|0.154	0.154	strong		0.413	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		C	127642814	G	C	127642814	3	2	22	1	0	0	0	0	1	0	0	0	7991	1377	48	4	912	4	KBTBD12	3	127642814	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	255426	127642814	70379616	2269	7377										
EEFSEC	60678	hgsc.bcm.edu	37	chr3	127872506	127872506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatcacgctcgatctgggCttctcgtgcttctcggtgcc	12	14	4	0	rs11711710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:127872506C>T	ENST00000254730.6	+	1	210	c.156C>T	c.(154-156)ggC>ggT	p.G52G	EEFSEC_ENST00000483457.1_Silent_p.G52G|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	52	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCGATCTGGGCTTCTCGTGCT	0.726													C|||	682	0.136182	0.2315	0.134	5008	,	,		11740	0.0069		0.1143	False		,,,				2504	0.1646				p.G52G		Atlas-SNP	.											.	EEFSEC	53	.	0			c.C156T						PASS	.	C		880,3484		96,688,1398	11	14	13		156	4.3	1	3	dbSNP_120	13	1010,7520		57,896,3312	no	coding-synonymous	EEFSEC	NM_021937.3		153,1584,4710	TT,TC,CC		11.8406,20.165,14.658		52/597	127872506	1890,11004	2182	4265	6447	SO:0001819	synonymous_variant	60678	exon1			TCTGGGCTTCTCG		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.156C>T	3.37:g.127872506C>T		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	28	16	0.571429	NM_021937	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																			C|0.866;T|0.134	0.134	strong		0.726	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127872506	C	T	127872506	2	4	22	1	0	0	0	0	0	0	0	1	4931	784	28	2		2	EEFSEC	3	127872506	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	229692	127872506	70149924	2270	7378										
DNAJB8	165721	hgsc.bcm.edu	37	chr3	128182074	128182074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcacgcccagcacttcGtagtagttagccatggccag	11	14	0	0	rs2981026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:128182074G>A	ENST00000469083.1	-	2	2572	c.15C>T	c.(13-15)taC>taT	p.Y5Y	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.Y5Y			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	5	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CCAGCACTTCGTAGTAGTTAG	0.632													G|||	1540	0.307508	0.1316	0.3573	5008	,	,		16196	0.4891		0.2753	False		,,,				2504	0.3558				p.Y5Y		Atlas-SNP	.											.	DNAJB8	34	.	0			c.C15T						PASS	.	G		658,3748	268.6+/-268.5	48,562,1593	55	57	56		15	0.9	1	3	dbSNP_101	56	2275,6325	374.6+/-337.4	318,1639,2343	no	coding-synonymous	DNAJB8	NM_153330.2		366,2201,3936	AA,AG,GG		26.4535,14.9342,22.5511		5/233	128182074	2933,10073	2203	4300	6503	SO:0001819	synonymous_variant	165721	exon3			CACTTCGTAGTAG		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.15C>T	3.37:g.128182074G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	249	136	0.546185	NM_153330	B3KWV7	Silent	SNP	ENST00000469083.1	37	CCDS3048.1																																																																																			G|0.724;A|0.276	0.276	strong		0.632	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		A	128182074	G	A	128182074	2	1	22	1	0	0	0	0	0	0	0	1	4626	1140	40	1		1	DNAJB8	3	128182074	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	309568	128182074	69840356	2271	7379										
GATA2	2624	hgsc.bcm.edu	37	chr3	128204951	128204951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgggagccagagtgggCtgctgtaggggtgagggagg	23	4	0	2	rs2335052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:128204951C>T	ENST00000341105.2	-	3	821	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	GATA2_ENST00000430265.2_Missense_Mutation_p.A164T|GATA2_ENST00000487848.1_Missense_Mutation_p.A164T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	164			A -> T (in dbSNP:rs2335052). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCAGAGTGGGCTGCTGTAGGG	0.672			Mis		AML(CML blast transformation)								C|||	1166	0.232827	0.2156	0.2406	5008	,	,		13545	0.378		0.1829	False		,,,				2504	0.1524				p.A164T		Atlas-SNP	.		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	GATA2,colon,carcinoma,0,2	GATA2	122	2	0			c.G490A	GRCh37	CM066570	GATA2	M	rs2335052	PASS	.	C	THR/ALA,THR/ALA,THR/ALA	736,3670	293.0+/-282.3	66,604,1533	41	39	40		490,490,490	1.8	0.9	3	dbSNP_100	40	1395,7205	258.7+/-282.2	122,1151,3027	yes	missense,missense,missense	GATA2	NM_001145661.1,NM_001145662.1,NM_032638.4	58,58,58	188,1755,4560	TT,TC,CC		16.2209,16.7045,16.3847	benign,benign,benign	164/481,164/467,164/481	128204951	2131,10875	2203	4300	6503	SO:0001583	missense	2624	exon3			AGTGGGCTGCTGT	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.490G>A	3.37:g.128204951C>T	ENSP00000345681:p.Ala164Thr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	152	83	0.546053	NM_001145662	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	529	0.24221611721611722	101	0.20528455284552846	81	0.22375690607734808	212	0.3706293706293706	135	0.17810026385224276	C	11.98	1.801096	0.31869	0.167045	0.162209	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.32;-4.33;-4.32	3.9	1.83	0.25207	.	0.333921	0.33875	N	0.004464	T	0.00012	0.0000	N	0.04724	-0.175	0.34725	P	0.270903	B;B	0.15473	0.013;0.001	B;B	0.19391	0.025;0.002	T	0.10086	-1.0645	9	0.21540	T	0.41	-13.4507	9.5554	0.39334	0.0:0.5805:0.4195:0.0	rs2335052;rs4343643;rs17465403;rs60980469;rs2335052	164;164	P23769-2;P23769	.;GATA2_HUMAN	T	164	ENSP00000345681:A164T;ENSP00000400259:A164T;ENSP00000417074:A164T	ENSP00000345681:A164T	A	-	1	0	GATA2	129687641	0.824000	0.29247	0.899000	0.35326	0.973000	0.67179	0.622000	0.24433	0.911000	0.36747	0.484000	0.47621	GCC	C|0.800;T|0.200	0.200	strong		0.672	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		T	128204951	C	T	128204951	3	4	22	1	0	0	0	0	1	0	0	0	6254	797	28	2	968	2	GATA2	3	128204951	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22877	128204951	69817479	2272	7380										
ISY1	57461	hgsc.bcm.edu	37	chr3	128853738	128853738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcatctaggtaaccatAgtactcaaaatcgattgcct	5	10	4	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:128853738A>G	ENST00000393295.3	-	8	795	c.478T>C	c.(478-480)Tat>Cat	p.Y160H	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.Y160H|ISY1_ENST00000273541.8_Missense_Mutation_p.Y182H|ISY1_ENST00000393292.3_Missense_Mutation_p.Y160H|ISY1_ENST00000471497.1_Intron	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	160					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AGGTAACCATAGTACTCAAAA	0.398																																					p.Y182H		Atlas-SNP	.											ISY1,NS,carcinoma,+1,1	ISY1	36	1	0			c.T544C						scavenged	.						143	136	138					3																	128853738		1929	4155	6084	SO:0001583	missense	57461	exon9			AACCATAGTACTC		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.478T>C	3.37:g.128853738A>G	ENSP00000376973:p.Tyr160His	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	196	4	0.0204082	NM_001199469	Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632049	0.87660	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.60548	0.18	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	H	0.95114	3.625	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.85685	0.1303	10	0.56958	D	0.05	.	11.5753	0.50858	1.0:0.0:0.0:0.0	.	182;160;160	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	H	160;160;182;98;160	ENSP00000273541:Y182H	ENSP00000273541:Y182H	Y	-	1	0	ISY1	130336428	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.138000	0.89613	2.042000	0.60477	0.383000	0.25322	TAT	.	.	none		0.398	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		G	128853738	A	G	128853738	3	3	22	1	0	0	0	0	1	0	0	0	7866	420	15	3	395	3	ISY1	3	128853738	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	648787	128853738	69168692	2273	7381										
COPG	22820	hgsc.bcm.edu	37	chr3	128984409	128984409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggtggctttgagtataaGcgcgctatcgtggactgcat	14	8	0	1	rs78889622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:128984409G>A	ENST00000314797.6	+	14	1346	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	414					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TTGAGTATAAGCGCGCTATCG	0.517													G|||	150	0.0299521	0.1036	0.0173	5008	,	,		21492	0.0		0.001	False		,,,				2504	0.0				p.K414K		Atlas-SNP	.											.	.	.	.	0			c.G1242A						PASS	.	G		378,4028	191.9+/-217.4	11,356,1836	175	158	164		1242	4.1	1	3	dbSNP_131	164	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	COPG	NM_016128.3		11,363,6129	AA,AG,GG		0.0814,8.5792,2.9602		414/875	128984409	385,12621	2203	4300	6503	SO:0001819	synonymous_variant	22820	exon14			GTATAAGCGCGCT	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1242G>A	3.37:g.128984409G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	140	63	0.45	NM_016128	A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	CCDS33851.1																																																																																			G|0.973;A|0.027	0.027	strong		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		A	128984409	G	A	128984409	2	1	22	1	0	0	0	0	0	0	0	1	3731	962	34	2		2	COPG	3	128984409	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	130671	128984409	69038021	2274	7382										
H1FOO	132243	hgsc.bcm.edu	37	chr3	129267915	129267915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggctcccaggagagcgggTgaggccaaggggaagggccc	19	11	0	2	rs60616647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129267915T>C	ENST00000324382.2	+	3	455	c.450T>C	c.(448-450)ggT>ggC	p.G150G	H1FOO_ENST00000503977.1_Silent_p.G11G	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	150					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						GGAGAGCGGGTGAGGCCAAGG	0.607													C|||	315	0.0628994	0.2277	0.0202	5008	,	,		16740	0.0		0.0	False		,,,				2504	0.0				p.G150G		Atlas-SNP	.											.	H1FOO	20	.	0			c.T450C						PASS	.	C		795,3611	723.7+/-409.4	75,645,1483	30	30	30		450	-5.2	0	3	dbSNP_129	30	10,8590	800.0+/-407.4	0,10,4290	no	coding-synonymous	H1FOO	NM_153833.1		75,655,5773	CC,CT,TT		0.1163,18.0436,6.1895		150/347	129267915	805,12201	2203	4300	6503	SO:0001819	synonymous_variant	132243	exon3			AGCGGGTGAGGCC	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"Histones / Replication-independent"	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.450T>C	3.37:g.129267915T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	134	134	1	NM_153833	Q86WT7	Silent	SNP	ENST00000324382.2	37	CCDS3064.1																																																																																			T|0.938;C|0.062	0.062	strong		0.607	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		C	129267915	T	C	129267915	2	2	22	1	0	0	0	0	0	0	0	1	6922	1683	59	2		2	H1FOO	3	129267915	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	283506	129267915	68754515	2275	7383										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129275206	129275206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccatcaaagccaccacCtgctcaaacttgtgctgcag	6	16	2	0	rs11920311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129275206C>T	ENST00000324093.4	-	36	5905	c.5727G>A	c.(5725-5727)caG>caA	p.Q1909Q	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1909					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGCCACCACCTGCTCAAACT	0.617													T|||	1165	0.232628	0.3306	0.2046	5008	,	,		19032	0.2103		0.1402	False		,,,				2504	0.2382				p.Q1909Q	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.G5727A						PASS	.	T		1236,3170	705.9+/-407.3	162,912,1129	206	184	192		5727	2.8	1	3	dbSNP_120	192	1147,7453	766.4+/-407.6	67,1013,3220	no	coding-synonymous	PLXND1	NM_015103.2		229,1925,4349	TT,TC,CC		13.3372,28.0527,18.3223		1909/1926	129275206	2383,10623	2203	4300	6503	SO:0001819	synonymous_variant	23129	exon36			CACCACCTGCTCA	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5727G>A	3.37:g.129275206C>T		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	201	106	0.527363	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			C|0.790;T|0.210	0.210	strong		0.617	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129275206	C	T	129275206	2	4	22	1	0	0	0	0	0	0	0	1	12127	680	24	2		2	PLXND1	3	129275206	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7291	129275206	68747224	2276	7384										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129286413	129286413	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcggttcagctccttggtGagatctgtcatgtctgtctg	12	10	5	1	rs2245285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129286413G>C	ENST00000324093.4	-	22	4186	c.4008C>G	c.(4006-4008)ctC>ctG	p.L1336L	PLXND1_ENST00000393239.1_Silent_p.L1336L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1336					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTCCTTGGTGAGATCTGTCA	0.622													C|||	2594	0.517971	0.6044	0.379	5008	,	,		18165	0.7431		0.3519	False		,,,				2504	0.4387				p.L1336L	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.C4008G						PASS	.	C		2429,1977	549.3+/-377.7	655,1119,429	71	55	60		4008	3.5	1	3	dbSNP_100	60	2783,5817	668.9+/-402.6	459,1865,1976	no	coding-synonymous	PLXND1	NM_015103.2		1114,2984,2405	CC,CG,GG		32.3605,44.8706,40.0738		1336/1926	129286413	5212,7794	2203	4300	6503	SO:0001819	synonymous_variant	23129	exon22			CTTGGTGAGATCT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4008C>G	3.37:g.129286413G>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			G|0.549;C|0.451	0.451	strong		0.622	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129286413	G	C	129286413	2	2	22	1	0	0	0	0	0	0	0	1	12127	1277	45	4		4	PLXND1	3	129286413	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11207	129286413	68736017	2277	7385										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129289752	129289752	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacccggtactcgtgactCtggagccccaggctgtcctg	12	14	1	2	rs2285365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129289752C>T	ENST00000324093.4	-	19	3805	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	PLXND1_ENST00000393239.1_Silent_p.Q1209Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1209					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCGTGACTCTGGAGCCCCA	0.612													C|||	735	0.146765	0.3495	0.0519	5008	,	,		18385	0.1032		0.0388	False		,,,				2504	0.0961				p.Q1209Q	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.G3627A						PASS	.	C		1357,3049	453.2+/-350.3	208,941,1054	246	260	255		3627	3.9	1	3	dbSNP_100	255	306,8294	109.8+/-170.3	8,290,4002	no	coding-synonymous	PLXND1	NM_015103.2		216,1231,5056	TT,TC,CC		3.5581,30.7989,12.7864		1209/1926	129289752	1663,11343	2203	4300	6503	SO:0001819	synonymous_variant	23129	exon19			GTGACTCTGGAGC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3627G>A	3.37:g.129289752C>T		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	299	151	0.505017	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			C|0.857;T|0.143	0.143	strong		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129289752	C	T	129289752	2	4	22	1	0	0	0	0	0	0	0	1	12127	912	32	2		2	PLXND1	3	129289752	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3339	129289752	68732678	2278	7386										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129291499	129291499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaccaggacctggagctcGgagcctacatggaggtcatt	12	11	2	0	rs2285368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129291499G>A	ENST00000324093.4	-	15	3208	c.3030C>T	c.(3028-3030)tcC>tcT	p.S1010S	PLXND1_ENST00000393239.1_Silent_p.S1010S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1010	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTGGAGCTCGGAGCCTACAT	0.627													G|||	726	0.144968	0.3427	0.0504	5008	,	,		17501	0.1042		0.0388	False		,,,				2504	0.0961				p.S1010S	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.C3030T						PASS	.	G		1331,3075	433.9+/-343.8	207,917,1079	53	49	50		3030	-4.2	0.9	3	dbSNP_100	50	301,8299	107.4+/-168.2	8,285,4007	no	coding-synonymous	PLXND1	NM_015103.2		215,1202,5086	AA,AG,GG		3.5,30.2088,12.5481		1010/1926	129291499	1632,11374	2203	4300	6503	SO:0001819	synonymous_variant	23129	exon15			GAGCTCGGAGCCT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3030C>T	3.37:g.129291499G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	205	116	0.565854	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			G|0.865;A|0.135	0.135	strong		0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		A	129291499	G	A	129291499	2	1	22	1	0	0	0	0	0	0	0	1	12127	1103	39	1		1	PLXND1	3	129291499	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1747	129291499	68730931	2279	7387										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129291751	129291751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtcaccacacctgagagTggtcctggggctggccctgt	14	13	1	1	rs2244708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129291751T>C	ENST00000324093.4	-	14	3049	c.2871A>G	c.(2869-2871)ccA>ccG	p.P957P	PLXND1_ENST00000393239.1_Silent_p.P957P	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	957	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CACCTGAGAGTGGTCCTGGGG	0.677													C|||	2155	0.430312	0.6036	0.2911	5008	,	,		15878	0.5119		0.3479	False		,,,				2504	0.2955				p.P957P	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											PLXND1,colon,carcinoma,0,1	PLXND1	149	1	0			c.A2871G						PASS	.	C		2532,1872	537.5+/-374.7	728,1076,398	62	52	55		2871	-6.7	0	3	dbSNP_100	55	2726,5874	680.0+/-403.6	445,1836,2019	yes	coding-synonymous	PLXND1	NM_015103.2		1173,2912,2417	CC,CT,TT		31.6977,42.5068,40.4337		957/1926	129291751	5258,7746	2202	4300	6502	SO:0001819	synonymous_variant	23129	exon14			TGAGAGTGGTCCT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2871A>G	3.37:g.129291751T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	65	31	0.476923	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			T|0.572;C|0.428	0.428	strong		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129291751	T	C	129291751	2	2	22	1	0	0	0	0	0	0	0	1	12127	1683	59	2		2	PLXND1	3	129291751	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	252	129291751	68730679	2280	7388										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129293256	129293256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcagccatcactccacaTgcacaggtgacccaggtctt	10	15	2	1	rs2255703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129293256T>C	ENST00000324093.4	-	12	2786	c.2608A>G	c.(2608-2610)Atg>Gtg	p.M870V	PLXND1_ENST00000393239.1_Missense_Mutation_p.M870V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	870			M -> V (in dbSNP:rs2255703).		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCACTCCACATGCACAGGTGA	0.677													C|||	2564	0.511981	0.7247	0.3559	5008	,	,		16048	0.5109		0.4115	False		,,,				2504	0.4397				p.M870V	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											PLXND1,colon,carcinoma,0,1	PLXND1	149	1	0			c.A2608G						PASS	.	C	VAL/MET	2954,1450		1003,948,251	22	25	24		2608	0.9	0.7	3	dbSNP_100	24	3368,5228		673,2022,1603	yes	missense	PLXND1	NM_015103.2	21	1676,2970,1854	CC,CT,TT		39.181,32.9246,48.6308	benign	870/1926	129293256	6322,6678	2202	4298	6500	SO:0001583	missense	23129	exon12			TCCACATGCACAG	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2608A>G	3.37:g.129293256T>C	ENSP00000317128:p.Met870Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	1045	0.4784798534798535	334	0.6788617886178862	131	0.36187845303867405	275	0.4807692307692308	305	0.4023746701846966	C	0.004	-2.338084	0.00224	0.670754	0.39181	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.29142	1.63;1.58	4.32	0.907	0.19321	.	0.700883	0.13388	N	0.391612	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	9	0.19590	T	0.45	.	2.0191	0.03505	0.1277:0.3212:0.1259:0.4252	rs2255703;rs52797788;rs60959372;rs2255703	870	Q9Y4D7	PLXD1_HUMAN	V	870	ENSP00000317128:M870V;ENSP00000376931:M870V	ENSP00000317128:M870V	M	-	1	0	PLXND1	130775946	0.011000	0.17503	0.724000	0.30704	0.025000	0.11179	0.079000	0.14782	0.076000	0.16826	-1.183000	0.01708	ATG	T|0.496;C|0.504	0.504	strong		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129293256	T	C	129293256	3	2	22	1	0	0	0	0	1	0	0	0	12127	1464	51	2	3269	2	PLXND1	3	129293256	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1505	129293256	68729174	2281	7389										
TMCC1	23023	hgsc.bcm.edu	37	chr3	129546664	129546664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgctccgcagttccctcCtctcctggtagacatgcagc	8	18	1	1	rs72987361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129546664C>T	ENST00000393238.3	-	3	898	c.558G>A	c.(556-558)gaG>gaA	p.E186E	TMCC1_ENST00000426664.2_Silent_p.E72E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	186						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGTTCCCTCCTCTCCTGGTA	0.463													C|||	409	0.0816693	0.1793	0.0648	5008	,	,		17916	0.003		0.0775	False		,,,				2504	0.047				p.E186E		Atlas-SNP	.											.	TMCC1	105	.	0			c.G558A						PASS	.	C	,	687,3719	286.6+/-278.8	50,587,1566	42	44	44		558,216	-1.8	1	3	dbSNP_130	44	677,7923	168.8+/-220.3	21,635,3644	no	coding-synonymous,coding-synonymous	TMCC1	NM_001017395.3,NM_001128224.2	,	71,1222,5210	TT,TC,CC		7.8721,15.5924,10.4875	,	186/654,72/540	129546664	1364,11642	2203	4300	6503	SO:0001819	synonymous_variant	23023	exon3			TCCCTCCTCTCCT	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.558G>A	3.37:g.129546664C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	79	38	0.481013	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																			C|0.897;T|0.103	0.103	strong		0.463	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129546664	C	T	129546664	2	4	22	1	0	0	0	0	0	0	0	1	15989	680	24	2		2	TMCC1	3	129546664	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	253408	129546664	68475766	2282	7390										
TRH	7200	hgsc.bcm.edu	37	chr3	129694681	129694681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccggcccttggttgctgCtcgctctggctttgaccctg	12	15	1	1	rs5658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:129694681C>G	ENST00000302649.3	+	2	549	c.22C>G	c.(22-24)Ctc>Gtc	p.L8V	TRH_ENST00000507066.1_Missense_Mutation_p.L8V	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	8			L -> V (in dbSNP:rs5658).		adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TTGGTTGCTGCTCGCTCTGGC	0.701													C|||	1122	0.224042	0.239	0.2911	5008	,	,		13936	0.3631		0.0785	False		,,,				2504	0.1626				p.L8V	Esophageal Squamous(60;321 1330 17401 41911)	Atlas-SNP	.											.	TRH	30	.	0			c.C22G						PASS	.	C	VAL/LEU	869,3421		88,693,1364	14	14	14		22	2.2	0.6	3	dbSNP_52	14	669,7731		34,601,3565	yes	missense	TRH	NM_007117.3	32	122,1294,4929	GG,GC,CC		7.9643,20.2564,12.1198	probably-damaging	8/243	129694681	1538,11152	2145	4200	6345	SO:0001583	missense	7200	exon2			TTGCTGCTCGCTC		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.22C>G	3.37:g.129694681C>G	ENSP00000303452:p.Leu8Val	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	210	102	0.485714	NM_007117	B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	CCDS3066.1	477	0.2184065934065934	107	0.21747967479674796	98	0.27071823204419887	207	0.3618881118881119	65	0.08575197889182058	C	11.99	1.802842	0.31869	0.202564	0.079643	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.52295	0.67;0.67	4.07	2.22	0.28083	.	0.633406	0.15283	N	0.270578	T	0.00012	0.0000	M	0.63428	1.95	0.36832	P	0.11303300000000005	P	0.41624	0.757	B	0.37451	0.25	T	0.34625	-0.9821	9	0.35671	T	0.21	-5.7178	7.1873	0.25806	0.1939:0.6187:0.1874:0.0	rs5658;rs1619517;rs56706099;rs5658	8	P20396	TRH_HUMAN	V	8	ENSP00000303452:L8V;ENSP00000426522:L8V	ENSP00000303452:L8V	L	+	1	0	TRH	131177371	0.996000	0.38824	0.559000	0.28332	0.156000	0.22039	1.533000	0.36040	0.452000	0.26830	-0.314000	0.08810	CTC	C|0.839;G|0.161	0.161	strong		0.701	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		G	129694681	C	G	129694681	3	3	22	1	0	0	0	0	1	0	0	0	16475	797	28	4	24	4	TRH	3	129694681	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148017	129694681	68327749	2283	7391										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130095598	130095598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcggacaatcagagacctcAgcacattttcccaaaacatg	6	12	2	1	rs115250607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130095598A>G	ENST00000432398.2	+	3	1080	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	COL6A5_ENST00000265379.6_Missense_Mutation_p.S196G	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	196	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGAGACCTCAGCACATTTTC	0.463													A|||	97	0.019369	0.0703	0.0058	5008	,	,		20670	0.0		0.0	False		,,,				2504	0.0				p.S196G		Atlas-SNP	.											.	COL6A5	205	.	0			c.A586G						PASS	.	A	GLY/SER	75,1309		0,75,617	92	79	83		586	0.6	0.9	3	dbSNP_132	83	0,3182		0,0,1591	yes	missense	COL6A5	NM_153264.5	56	0,75,2208	GG,GA,AA		0.0,5.4191,1.6426	benign	196/2527	130095598	75,4491	692	1591	2283	SO:0001583	missense	256076	exon3			GACCTCAGCACAT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.586A>G	3.37:g.130095598A>G	ENSP00000390895:p.Ser196Gly	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	175	73	0.417143	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		30	0.013736263736263736	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	0	0.0	A	7.887	0.731439	0.15507	0.054191	0.0	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.77877	-1.13;-1.13	4.91	0.623	0.17654	.	.	.	.	.	T	0.12689	0.0308	N	0.11313	0.125	0.09310	N	0.999998	B	0.13145	0.007	B	0.19666	0.026	T	0.07731	-1.0757	9	0.20046	T	0.44	.	8.6998	0.34318	0.6916:0.0:0.3084:0.0	.	196	A8TX70-2	.	G	196	ENSP00000390895:S196G;ENSP00000265379:S196G	ENSP00000265379:S196G	S	+	1	0	COL6A5	131578288	0.000000	0.05858	0.929000	0.37066	0.781000	0.44180	-0.161000	0.10026	0.278000	0.22164	0.374000	0.22700	AGC	A|0.983;G|0.017	0.017	strong		0.463	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130095598	A	G	130095598	3	3	22	1	0	0	0	0	1	0	0	0	3702	188	7	3	592	3	COL6A5	3	130095598	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	400917	130095598	67926832	2284	7392										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130150704	130150704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacagccagtaggtcatccAtcatcacggccaccatggag	9	13	3	0	rs61750883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130150704A>G	ENST00000432398.2	+	33	6138	c.5644A>G	c.(5644-5646)Atc>Gtc	p.I1882V	COL6A5_ENST00000265379.6_Missense_Mutation_p.I1882V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1882	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGTCATCCATCATCACGGC	0.473													A|||	60	0.0119808	0.0431	0.0043	5008	,	,		20100	0.0		0.0	False		,,,				2504	0.0				p.I1882V		Atlas-SNP	.											.	COL6A5	205	.	0			c.A5644G						PASS	.	A	VAL/ILE	68,1316		3,62,627	197	163	173		5644	-2.3	0.4	3	dbSNP_129	173	0,3182		0,0,1591	yes	missense	COL6A5	NM_153264.5	29	3,62,2218	GG,GA,AA		0.0,4.9133,1.4893	benign	1882/2527	130150704	68,4498	692	1591	2283	SO:0001583	missense	256076	exon33			TCATCCATCATCA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5644A>G	3.37:g.130150704A>G	ENSP00000390895:p.Ile1882Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		14|14	0.00641025641025641|0.00641025641025641	14|14	0.028455284552845527|0.028455284552845527	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	1.127|1.127	-0.653563|-0.653563	0.03480|0.03480	0.049133|0.049133	0.0|0.0	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379	.|T;T	.|0.13196	.|2.61;2.61	5.64|5.64	-2.28|-2.28	0.06826|0.06826	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	L|L	0.52266|0.52266	1.64|1.64	0.09310|0.09310	N|N	1|1	.|P	.|0.40083	.|0.702	.|P	.|0.45449	.|0.481	T|T	0.22730|0.22730	-1.0208|-1.0208	5|9	.|0.16420	.|T	.|0.52	.|.	11.0646|11.0646	0.47968|0.47968	0.5749:0.0:0.4251:0.0|0.5749:0.0:0.4251:0.0	rs61750883|rs61750883	.|1882	.|A8TX70-2	.|.	R|V	133|1882	.|ENSP00000390895:I1882V;ENSP00000265379:I1882V	.|ENSP00000265379:I1882V	H|I	+|+	2|1	0|0	COL6A5|COL6A5	131633394|131633394	0.004000|0.004000	0.15560|0.15560	0.400000|0.400000	0.26346|0.26346	0.036000|0.036000	0.12997|0.12997	0.173000|0.173000	0.16724|0.16724	-0.386000|-0.386000	0.07821|0.07821	-0.379000|-0.379000	0.06801|0.06801	CAT|ATC	A|0.993;G|0.007	0.007	strong		0.473	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130150704	A	G	130150704	3	3	22	1	0	0	0	0	1	0	0	0	3702	217	8	2	5770	2	COL6A5	3	130150704	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55106	130150704	67871726	2285	7393										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130188009	130188009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggagatgtttttattggCcatgccttgcagtggacaat	11	6	0	1	rs59160673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130188009C>T	ENST00000432398.2	+	38	7655	c.7161C>T	c.(7159-7161)ggC>ggT	p.G2387G	COL6A5_ENST00000265379.6_Silent_p.G2387G	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2387	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTATTGGCCATGCCTTGC	0.388													C|||	67	0.0133786	0.0499	0.0014	5008	,	,		23052	0.0		0.0	False		,,,				2504	0.0				p.G2387G		Atlas-SNP	.											.	COL6A5	205	.	0			c.C7161T						PASS	.	C		164,3580		2,160,1710	118	106	110		7161	1.4	0.9	3	dbSNP_129	110	0,8222		0,0,4111	no	coding-synonymous	COL6A5	NM_153264.5		2,160,5821	TT,TC,CC		0.0,4.3803,1.3705		2387/2527	130188009	164,11802	1872	4111	5983	SO:0001819	synonymous_variant	256076	exon38			TATTGGCCATGCC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7161C>T	3.37:g.130188009C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	108	49	0.453704	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37		19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	C	4.754	0.140218	0.09083	0.043803	0.0	ENSG00000172752	ENST00000512836	.	.	.	5.35	1.44	0.22558	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10382	-1.0632	4	.	.	.	.	6.4978	0.22152	0.0:0.6424:0.1312:0.2264	rs59160673	.	.	.	S	639	.	.	P	+	1	0	COL6A5	131670699	0.738000	0.28186	0.950000	0.38849	0.667000	0.39255	-0.305000	0.08188	-0.018000	0.14079	-0.137000	0.14449	CCA	C|0.989;T|0.011	0.011	strong		0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130188009	C	T	130188009	2	4	22	1	0	0	0	0	0	0	0	1	3702	726	26	2		2	COL6A5	3	130188009	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37305	130188009	67834421	2286	7394										
COL6A6	131873	hgsc.bcm.edu	37	chr3	130287096	130287096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagattcatgtcccaaagCgacatttcaaatgcaataga	6	9	2	2	rs61730501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130287096C>T	ENST00000358511.6	+	5	2080	c.2049C>T	c.(2047-2049)agC>agT	p.S683S	COL6A6_ENST00000453409.2_Silent_p.S683S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	683	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTCCCAAAGCGACATTTCAA	0.478													C|||	67	0.0133786	0.0477	0.0029	5008	,	,		20256	0.0		0.001	False		,,,				2504	0.001				p.S683S		Atlas-SNP	.											.	COL6A6	497	.	0			c.C2049T						PASS	.	C		128,3762		1,126,1818	153	152	152		2049	-11.5	0	3	dbSNP_129	152	1,8267		0,1,4133	no	coding-synonymous	COL6A6	NM_001102608.1		1,127,5951	TT,TC,CC		0.0121,3.2905,1.061		683/2264	130287096	129,12029	1945	4134	6079	SO:0001819	synonymous_variant	131873	exon5			CCAAAGCGACATT	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2049C>T	3.37:g.130287096C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	247	126	0.510121	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																			C|0.993;T|0.007	0.007	strong		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130287096	C	T	130287096	2	4	22	1	0	0	0	0	0	0	0	1	3703	767	27	1		1	COL6A6	3	130287096	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99087	130287096	67735334	2287	7395										
COL6A6	131873	hgsc.bcm.edu	37	chr3	130289687	130289687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcggattgaagttttagaCgttgtgtttgtcattgatag	12	3	1	3	rs59562634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130289687C>T	ENST00000358511.6	+	6	2458	c.2427C>T	c.(2425-2427)gaC>gaT	p.D809D	COL6A6_ENST00000453409.2_Silent_p.D809D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	809	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGTTTTAGACGTTGTGTTTG	0.388													T|||	352	0.0702875	0.2526	0.0245	5008	,	,		20800	0.0		0.001	False		,,,				2504	0.0				p.D809D		Atlas-SNP	.											.	COL6A6	497	.	0			c.C2427T						PASS	.	T		838,2942		86,666,1138	85	88	87		2427	-7.7	0	3	dbSNP_129	87	16,8238		0,16,4111	no	coding-synonymous	COL6A6	NM_001102608.1		86,682,5249	TT,TC,CC		0.1938,22.1693,7.0966		809/2264	130289687	854,11180	1890	4127	6017	SO:0001819	synonymous_variant	131873	exon6			TTTAGACGTTGTG	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2427C>T	3.37:g.130289687C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																			C|0.945;T|0.055	0.055	strong		0.388	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130289687	C	T	130289687	2	4	22	1	0	0	0	0	0	0	0	1	3703	535	19	1		1	COL6A6	3	130289687	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2591	130289687	67732743	2288	7396										
ATP2C1	27032	hgsc.bcm.edu	37	chr3	130698205	130698205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgttacaacactcattgcCtcaggagtatcaataaaaat	6	9	3	0	rs114319700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:130698205C>T	ENST00000510168.1	+	19	2233	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	ATP2C1_ENST00000507488.2_Silent_p.A545A|ATP2C1_ENST00000428331.2_Silent_p.A561A|ATP2C1_ENST00000422190.2_Silent_p.A561A|ATP2C1_ENST00000505330.1_Silent_p.A545A|ATP2C1_ENST00000508532.1_Silent_p.A561A|ATP2C1_ENST00000504381.1_Silent_p.A506A|ATP2C1_ENST00000513801.1_Silent_p.A545A|ATP2C1_ENST00000328560.8_Silent_p.A561A|ATP2C1_ENST00000533801.2_Silent_p.A556A|ATP2C1_ENST00000359644.3_Silent_p.A561A|ATP2C1_ENST00000504948.1_Silent_p.A545A|ATP2C1_ENST00000393221.4_Silent_p.A595A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	561					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACTCATTGCCTCAGGAGTAT	0.413									Hailey-Hailey disease				C|||	19	0.00379393	0.0129	0.0014	5008	,	,		17464	0.001		0.0	False		,,,				2504	0.0				p.A595A	Esophageal Squamous(99;456 1443 27647 34099 42636)	Atlas-SNP	.											.	ATP2C1	94	.	0			c.C1785T						PASS	.	C	,,,,,,,,,,	60,4346	57.4+/-93.9	0,60,2143	121	118	119		1683,1683,1683,1683,1785,1785,1668,1635,1635,1683,1683	4.8	1	3	dbSNP_132	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2C1	NM_001001485.2,NM_001001486.1,NM_001001487.1,NM_001199179.1,NM_001199180.1,NM_001199181.1,NM_001199182.1,NM_001199183.1,NM_001199184.1,NM_001199185.1,NM_014382.3	,,,,,,,,,,	0,60,6443	TT,TC,CC		0.0,1.3618,0.4613	,,,,,,,,,,	561/889,561/950,561/940,561/920,595/974,595/954,556/945,545/924,545/904,561/889,561/920	130698205	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	27032	exon18	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	CATTGCCTCAGGA	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1683C>T	3.37:g.130698205C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	146	87	0.59589	NM_001199181	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	CCDS46914.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	1	0.0017482517482517483	0	0.0	C	10.04	1.240288	0.22711	0.013618	0.0	ENSG00000017260	ENST00000504612	.	.	.	5.68	4.8	0.61643	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53549	-0.8423	4	.	.	.	.	7.3917	0.26913	0.1283:0.6805:0.1237:0.0676	.	.	.	.	L	515	.	.	P	+	2	0	ATP2C1	132180895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.225000	0.32551	1.386000	0.46466	0.655000	0.94253	CCT	C|0.995;T|0.005	0.005	strong		0.413	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		T	130698205	C	T	130698205	2	4	22	1	0	0	0	0	0	0	0	1	1143	668	24	2		2	ATP2C1	3	130698205	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	408518	130698205	67324225	2289	7397										
CPNE4	131034	hgsc.bcm.edu	37	chr3	131268824	131268824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttagtttcctctgacgcTgacttggcaaccttctggat	10	10	2	2	rs11915192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:131268824T>C	ENST00000512055.1	-	18	3395	c.1269A>G	c.(1267-1269)tcA>tcG	p.S423S	CPNE4_ENST00000511604.1_Silent_p.S423S|CPNE4_ENST00000429747.1_Silent_p.S423S|CPNE4_ENST00000512332.1_Silent_p.S441S|CPNE4_ENST00000502818.1_Silent_p.S441S			Q96A23	CPNE4_HUMAN	copine IV	423	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCTCTGACGCTGACTTGGCAA	0.517													T|||	878	0.175319	0.2443	0.1268	5008	,	,		20206	0.1141		0.1352	False		,,,				2504	0.2209				p.S423S		Atlas-SNP	.											.	CPNE4	112	.	0			c.A1269G						PASS	.	T		952,3454	360.9+/-315.4	98,756,1349	157	135	142		1269	1.2	1	3	dbSNP_120	142	1191,7409	242.9+/-272.7	67,1057,3176	no	coding-synonymous	CPNE4	NM_130808.1		165,1813,4525	CC,CT,TT		13.8488,21.6069,16.477		423/558	131268824	2143,10863	2203	4300	6503	SO:0001819	synonymous_variant	131034	exon14			TGACGCTGACTTG	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1269A>G	3.37:g.131268824T>C		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	118	53	0.449153	NM_130808	D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	CCDS3072.1																																																																																			T|0.840;C|0.160	0.160	strong		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		C	131268824	T	C	131268824	2	2	22	1	0	0	0	0	0	0	0	1	3814	1567	55	3		3	CPNE4	3	131268824	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	570619	131268824	66753606	2290	7398										
DNAJC13	23317	hgsc.bcm.edu	37	chr3	132218075	132218075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatcaccattgttgcctgCggctacagagctagctttcc	9	12	1	2	rs61748102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:132218075C>T	ENST00000260818.6	+	37	4510	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1421					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGTTGCCTGCGGCTACAGAG	0.438													C|||	64	0.0127796	0.0242	0.0101	5008	,	,		18844	0.0		0.0209	False		,,,				2504	0.0041				p.A1421V		Atlas-SNP	.											.	DNAJC13	253	.	0			c.C4262T						PASS	.	C	VAL/ALA	112,4294	88.7+/-127.4	0,112,2091	93	93	93		4262	5.4	1	3	dbSNP_129	93	162,8438	76.0+/-138.7	1,160,4139	yes	missense	DNAJC13	NM_015268.3	64	1,272,6230	TT,TC,CC		1.8837,2.542,2.1067	probably-damaging	1421/2244	132218075	274,12732	2203	4300	6503	SO:0001583	missense	23317	exon37			TGCCTGCGGCTAC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4262C>T	3.37:g.132218075C>T	ENSP00000260818:p.Ala1421Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	148	66	0.445946	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	36	0.016483516483516484	13	0.026422764227642278	6	0.016574585635359115	0	0.0	17	0.022427440633245383	C	34	5.360586	0.95877	0.02542	0.018837	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.52754	0.65	5.42	5.42	0.78866	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	P	0.56648	0.803	T	0.64698	-0.6346	10	0.72032	D	0.01	.	19.5793	0.95459	0.0:1.0:0.0:0.0	rs61748102	1421	O75165	DJC13_HUMAN	V	1421;68	ENSP00000260818:A1421V	ENSP00000260818:A1421V	A	+	2	0	DNAJC13	133700765	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.535000	0.82014	2.706000	0.92434	0.555000	0.69702	GCG	C|0.981;T|0.019	0.019	strong		0.438	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		T	132218075	C	T	132218075	3	4	22	1	0	0	0	0	1	0	0	0	4632	768	27	1	4404	1	DNAJC13	3	132218075	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	949251	132218075	65804355	2291	7399										
UBA5	79876	hgsc.bcm.edu	37	chr3	132384704	132384704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgaatgggaattgtaagcGactatgaggtatgataaacc	11	5	0	2	rs61748106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:132384704G>A	ENST00000356232.4	+	2	1271	c.199G>A	c.(199-201)Gac>Aac	p.D67N	UBA5_ENST00000493720.2_Missense_Mutation_p.D67N|UBA5_ENST00000473651.1_Missense_Mutation_p.D67N|UBA5_ENST00000494238.2_Missense_Mutation_p.D11N|UBA5_ENST00000264991.4_Missense_Mutation_p.D11N	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	67					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AATTGTAAGCGACTATGAGGT	0.303													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0				p.D67N		Atlas-SNP	.											UBA5,colon,carcinoma,0,1	UBA5	33	1	0			c.G199A						PASS	.	G	ASN/ASP,ASN/ASP	7,4399	12.9+/-30.5	0,7,2196	90	98	96		199,31	4.3	0.7	3	dbSNP_129	96	0,8600		0,0,4300	yes	missense,missense	UBA5	NM_024818.3,NM_198329.2	23,23	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign	67/405,11/349	132384704	7,12999	2203	4300	6503	SO:0001583	missense	79876	exon2			GTAAGCGACTATG	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.199G>A	3.37:g.132384704G>A	ENSP00000348565:p.Asp67Asn	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_024818	A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.515	0.095620	0.08681	0.001589	0.0	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000489361	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	6.03	4.26	0.50523	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	N	0.04959	-0.14	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.07616	-1.0763	10	0.12103	T	0.63	-19.1821	11.318	0.49403	0.1873:0.0:0.8127:0.0	rs61748106	67;67	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	N	11;67;67;11;67;11;11	ENSP00000264991:D11N;ENSP00000348565:D67N;ENSP00000417879:D67N;ENSP00000418569:D11N;ENSP00000424984:D67N;ENSP00000418807:D11N;ENSP00000417905:D11N	ENSP00000264991:D11N	D	+	1	0	UBA5	133867394	1.000000	0.71417	0.700000	0.30305	0.868000	0.49771	4.654000	0.61469	0.898000	0.36418	-0.794000	0.03295	GAC	G|0.999;A|0.001	0.001	strong		0.303	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		A	132384704	G	A	132384704	3	1	22	1	0	0	0	0	1	0	0	0	16827	1058	37	1	205	1	UBA5	3	132384704	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	166629	132384704	65637726	2292	7400										
BFSP2	8419	hgsc.bcm.edu	37	chr3	133191385	133191385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacgtggcgtcctaccacgCcctgctggacagggaggaga	16	12	0	1	rs79087781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133191385C>A	ENST00000302334.2	+	6	1309	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	407	Tail.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCCTACCACGCCCTGCTGGAC	0.562													C|||	167	0.0333466	0.028	0.0274	5008	,	,		15989	0.0258		0.0388	False		,,,				2504	0.047				p.A407D		Atlas-SNP	.											.	BFSP2	48	.	0			c.C1220A						PASS	.	C	ASP/ALA	143,4263		2,139,2062	19	22	21		1220	2.3	1	3	dbSNP_131	21	379,8221		7,365,3928	yes	missense	BFSP2	NM_003571.2	126	9,504,5990	AA,AC,CC		4.407,3.2456,4.0135	benign	407/416	133191385	522,12484	2203	4300	6503	SO:0001583	missense	8419	exon6			ACCACGCCCTGCT	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1220C>A	3.37:g.133191385C>A	ENSP00000304987:p.Ala407Asp	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	135	76	0.562963	NM_003571	Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	CCDS33859.1	73	0.033424908424908424	14	0.028455284552845527	12	0.03314917127071823	14	0.024475524475524476	33	0.04353562005277045	c	16.65	3.182012	0.57800	0.032456	0.04407	ENSG00000170819	ENST00000302334	D	0.88664	-2.41	5.13	2.27	0.28462	Filament (1);	0.338987	0.25025	N	0.033740	T	0.61565	0.2357	L	0.40543	1.245	0.40914	D	0.98425	P	0.48911	0.917	P	0.47891	0.56	T	0.70579	-0.4833	10	0.33141	T	0.24	-7.807	7.5614	0.27853	0.0:0.5855:0.2261:0.1883	.	407	Q13515	BFSP2_HUMAN	D	407	ENSP00000304987:A407D	ENSP00000304987:A407D	A	+	2	0	BFSP2	134674075	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.010000	0.49559	0.568000	0.29311	0.556000	0.70494	GCC	C|0.964;A|0.036	0.036	strong		0.562	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			A	133191385	C	A	133191385	3	1	22	1	0	0	0	0	1	0	0	0	1416	739	26	4	1242	4	BFSP2	3	133191385	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	806681	133191385	64831045	2293	7401										
TOPBP1	11073	hgsc.bcm.edu	37	chr3	133327457	133327457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttctgctatattaactccTgagtcatctggtttcagttt	7	9	4	1	rs1051772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133327457T>C	ENST00000260810.5	-	27	4478	c.4347A>G	c.(4345-4347)tcA>tcG	p.S1449S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1449	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TATTAACTCCTGAGTCATCTG	0.393								Other conserved DNA damage response genes					T|||	466	0.0930511	0.1694	0.0706	5008	,	,		18764	0.0506		0.1044	False		,,,				2504	0.0378				p.S1449S	Ovarian(21;193 658 4424 15423 17362)	Atlas-SNP	.											.	TOPBP1	218	.	0			c.A4347G						PASS	.	T		557,3143		40,477,1333	122	111	114		4347	-10.9	0.4	3	dbSNP_86	114	786,7420		29,728,3346	no	coding-synonymous	TOPBP1	NM_007027.3		69,1205,4679	CC,CT,TT		9.5784,15.0541,11.28		1449/1523	133327457	1343,10563	1850	4103	5953	SO:0001819	synonymous_variant	11073	exon27			AACTCCTGAGTCA	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4347A>G	3.37:g.133327457T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	CCDS46919.1																																																																																			T|0.900;C|0.100	0.100	strong		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		C	133327457	T	C	133327457	2	2	22	1	0	0	0	0	0	0	0	1	16366	1567	55	3		3	TOPBP1	3	133327457	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136072	133327457	64694973	2294	7402										
TF	7018	hgsc.bcm.edu	37	chr3	133473445	133473445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacgggtctaggcaggtcCgctgggtggaacatccccat	13	13	1	0	rs41298987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133473445C>T	ENST00000402696.3	+	4	917	c.432C>T	c.(430-432)tcC>tcT	p.S144S	TF_ENST00000264998.3_Silent_p.S17S|TF_ENST00000475382.1_3'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	144	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TAGGCAGGTCCGCTGGGTGGA	0.522													C|||	64	0.0127796	0.0446	0.0043	5008	,	,		20464	0.002		0.0	False		,,,				2504	0.0				p.S144S		Atlas-SNP	.											TF,rectum,carcinoma,0,1	TF	116	1	0			c.C432T						PASS	.	C		151,4255	103.8+/-142.4	1,149,2053	182	178	179		432	-10.5	0.1	3	dbSNP_127	179	0,8600		0,0,4300	no	coding-synonymous	TF	NM_001063.3		1,149,6353	TT,TC,CC		0.0,3.4271,1.161		144/699	133473445	151,12855	2203	4300	6503	SO:0001819	synonymous_variant	7018	exon4			CAGGTCCGCTGGG		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.432C>T	3.37:g.133473445C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	164	89	0.542683	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																			C|0.988;T|0.012	0.012	strong		0.522	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		T	133473445	C	T	133473445	2	4	22	1	0	0	0	0	0	0	0	1	15782	639	23	1		1	TF	3	133473445	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145988	133473445	64548985	2295	7403										
TF	7018	hgsc.bcm.edu	37	chr3	133474286	133474286	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgtgtcaactgtgtccAgggtgtggctgctccaccct	12	13	1	0	rs8177226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133474286A>G	ENST00000402696.3	+	5	1067	c.582A>G	c.(580-582)ccA>ccG	p.P194P	TF_ENST00000264998.3_Silent_p.P67P|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	194	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AACTGTGTCCAGGGTGTGGCT	0.567													A|||	63	0.0125799	0.0439	0.0043	5008	,	,		20471	0.002		0.0	False		,,,				2504	0.0				p.P194P		Atlas-SNP	.											.	TF	116	.	0			c.A582G						PASS	.	A		154,4252	105.2+/-143.6	1,152,2050	111	96	101		582	-9.9	0	3	dbSNP_117	101	0,8600		0,0,4300	no	coding-synonymous	TF	NM_001063.3		1,152,6350	GG,GA,AA		0.0,3.4952,1.1841		194/699	133474286	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	7018	exon5			GTGTCCAGGGTGT		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.582A>G	3.37:g.133474286A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	129	77	0.596899	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																			A|0.988;G|0.012	0.012	strong		0.567	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		G	133474286	A	G	133474286	2	3	22	1	0	0	0	0	0	0	0	1	15782	175	7	3		3	TF	3	133474286	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	841	133474286	64548144	2296	7404										
TF	7018	hgsc.bcm.edu	37	chr3	133476629	133476629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggaacattttggcaaagAcaaatcaaaagaattccaac	6	8	1	2	rs8177238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133476629A>G	ENST00000402696.3	+	8	1372	c.887A>G	c.(886-888)gAc>gGc	p.D296G	TF_ENST00000264998.3_Missense_Mutation_p.D169G	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	296	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		D -> G (in allele TF*D1; dbSNP:rs8177238). {ECO:0000269|Ref.5}.		blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTTGGCAAAGACAAATCAAAA	0.433													A|||	70	0.0139776	0.0492	0.0043	5008	,	,		21606	0.002		0.0	False		,,,				2504	0.0				p.D296G		Atlas-SNP	.											TF,NS,carcinoma,+1,1	TF	116	1	0			c.A887G	GRCh37	CM840005	TF	M	rs8177238	PASS	.	A	GLY/ASP	174,4232	114.2+/-152.2	3,168,2032	79	80	80		887	-2	0	3	dbSNP_117	80	0,8600		0,0,4300	yes	missense	TF	NM_001063.3	94	3,168,6332	GG,GA,AA		0.0,3.9492,1.3378	benign	296/699	133476629	174,12832	2203	4300	6503	SO:0001583	missense	7018	exon8			GCAAAGACAAATC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.887A>G	3.37:g.133476629A>G	ENSP00000385834:p.Asp296Gly	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	A	11.96	1.794981	0.31777	0.039492	0.0	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.36878	1.23;1.23	4.91	-1.97	0.07503	.	0.691902	0.14583	N	0.310751	T	0.03305	0.0096	N	0.26130	0.795	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.18524	-1.0334	10	0.19147	T	0.46	-12.1952	10.8343	0.46677	0.5329:0.0:0.4671:0.0	rs8177238;rs8177238	296	P02787	TRFE_HUMAN	G	296;169	ENSP00000385834:D296G;ENSP00000264998:D169G	ENSP00000264998:D169G	D	+	2	0	TF	134959319	0.021000	0.18746	0.001000	0.08648	0.826000	0.46750	0.020000	0.13466	-0.189000	0.10482	0.459000	0.35465	GAC	A|0.984;G|0.016	0.016	strong		0.433	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		G	133476629	A	G	133476629	3	3	22	1	0	0	0	0	1	0	0	0	15782	275	10	2	917	2	TF	3	133476629	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2343	133476629	64545801	2297	7405										
TF	7018	hgsc.bcm.edu	37	chr3	133486988	133486988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaacaaagagggatactaCggctacacaggcgctttcag	10	10	1	1	rs7845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133486988C>T	ENST00000402696.3	+	13	2087	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	TF_ENST00000264998.3_Silent_p.Y407Y	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	534	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGGGATACTACGGCTACACAG	0.448													C|||	71	0.0141773	0.0522	0.0029	5008	,	,		19620	0.0		0.0	False		,,,				2504	0.0				p.Y534Y		Atlas-SNP	.											.	TF	116	.	0			c.C1602T						PASS	.	C		174,4232	113.3+/-151.4	5,164,2034	81	83	82		1602	-2.4	1	3	dbSNP_52	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TF	NM_001063.3		5,166,6332	TT,TC,CC		0.0233,3.9492,1.3532		534/699	133486988	176,12830	2203	4300	6503	SO:0001819	synonymous_variant	7018	exon13			ATACTACGGCTAC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1602C>T	3.37:g.133486988C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	81	36	0.444444	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																			C|0.985;G|0.000;T|0.015	0.015	strong		0.448	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		T	133486988	C	T	133486988	2	4	22	1	0	0	0	0	0	0	0	1	15782	547	19	1		1	TF	3	133486988	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10359	133486988	64535442	2298	7406										
TF	7018	hgsc.bcm.edu	37	chr3	133487000	133487000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatactacggctacacaggCgctttcaggtgagtctttta	11	9	2	1	rs8177286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133487000C>T	ENST00000402696.3	+	13	2099	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	TF_ENST00000264998.3_Silent_p.G411G	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	538	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCTACACAGGCGCTTTCAGGT	0.433													C|||	66	0.0131789	0.0461	0.0043	5008	,	,		19064	0.002		0.0	False		,,,				2504	0.0				p.G538G		Atlas-SNP	.											.	TF	116	.	0			c.C1614T						PASS	.	C		168,4238	111.6+/-149.8	3,162,2038	69	72	71		1614	-3.7	0.6	3	dbSNP_117	71	0,8600		0,0,4300	no	coding-synonymous	TF	NM_001063.3		3,162,6338	TT,TC,CC		0.0,3.813,1.2917		538/699	133487000	168,12838	2203	4300	6503	SO:0001819	synonymous_variant	7018	exon13			CACAGGCGCTTTC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1614C>T	3.37:g.133487000C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																			C|0.987;T|0.013	0.013	strong		0.433	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		T	133487000	C	T	133487000	2	4	22	1	0	0	0	0	0	0	0	1	15782	755	27	1		1	TF	3	133487000	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	133487000	64535430	2299	7407										
SLCO2A1	6578	hgsc.bcm.edu	37	chr3	133653566	133653566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggtggggtcagatgagGcctgccgccttctgcacgtt	15	12	2	2	rs72978391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:133653566G>A	ENST00000310926.4	-	14	2196	c.1923C>T	c.(1921-1923)ggC>ggT	p.G641G	SLCO2A1_ENST00000493729.1_Silent_p.G565G	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	641					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTCAGATGAGGCCTGCCGCCT	0.557													G|||	160	0.0319489	0.112	0.0144	5008	,	,		18588	0.0		0.002	False		,,,				2504	0.0				p.G641G		Atlas-SNP	.											.	SLCO2A1	72	.	0			c.C1923T						PASS	.	G		407,3999	201.8+/-224.7	15,377,1811	121	103	109		1923	2.6	0.7	3	dbSNP_130	109	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	SLCO2A1	NM_005630.2		15,384,6104	AA,AG,GG		0.0814,9.2374,3.1831		641/644	133653566	414,12592	2203	4300	6503	SO:0001819	synonymous_variant	6578	exon14			GATGAGGCCTGCC		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1923C>T	3.37:g.133653566G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	74	32	0.432432	NM_005630	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1																																																																																			G|0.970;A|0.030	0.030	strong		0.557	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		A	133653566	G	A	133653566	2	1	22	1	0	0	0	0	0	0	0	1	14726	1190	42	2		2	SLCO2A1	3	133653566	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	166566	133653566	64368864	2300	7408										
KY	339855	hgsc.bcm.edu	37	chr3	134322814	134322814	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatcttgagggcaaacttGcctgcatggggcagctggac	14	9	1	2	rs2293294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:134322814G>C	ENST00000423778.2	-	11	1654	c.1593C>G	c.(1591-1593)ggC>ggG	p.G531G	KY_ENST00000508956.1_Silent_p.G510G|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	531					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.G531G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGGCAAACTTGCCTGCATGGG	0.527													G|||	1482	0.295927	0.413	0.2349	5008	,	,		20559	0.1101		0.33	False		,,,				2504	0.3374				p.G531G		Atlas-SNP	.											KY_ENST00000423778,NS,carcinoma,0,1	KY	92	1	1	Substitution - coding silent(1)	stomach(1)	c.C1593G						PASS	.	G		1556,2496		331,894,801	79	81	80		1593	3.8	1	3	dbSNP_100	80	2993,5407		564,1865,1771	no	coding-synonymous	KY	NM_178554.4		895,2759,2572	CC,CG,GG		35.631,38.4008,36.5323		531/662	134322814	4549,7903	2026	4200	6226	SO:0001819	synonymous_variant	339855	exon11			AAACTTGCCTGCA	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1593C>G	3.37:g.134322814G>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	90	52	0.577778	NM_178554	B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	CCDS46920.1																																																																																			G|0.694;C|0.306	0.306	strong		0.527	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		C	134322814	G	C	134322814	2	2	22	1	0	0	0	0	0	0	0	1	8586	1306	46	4		4	KY	3	134322814	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	669248	134322814	63699616	2301	7409										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134670524	134670524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accattgctgcagatgagagCttctcccaggtggactttgg	12	10	1	2	rs7644369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:134670524C>T	ENST00000398015.3	+	3	805	c.435C>T	c.(433-435)agC>agT	p.S145S	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGATGAGAGCTTCTCCCAGG	0.498													C|||	2411	0.48143	0.6377	0.5692	5008	,	,		19990	0.2123		0.4394	False		,,,				2504	0.5286				p.S145S		Atlas-SNP	.											.	EPHB1	519	.	0			c.C435T						PASS	.	C		2277,1677		699,879,399	154	152	153		435	4.6	1	3	dbSNP_116	153	3757,4657		844,2069,1294	no	coding-synonymous	EPHB1	NM_004441.4		1543,2948,1693	TT,TC,CC		44.6518,42.4127,48.7872		145/985	134670524	6034,6334	1977	4207	6184	SO:0001819	synonymous_variant	2047	exon3			TGAGAGCTTCTCC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.435C>T	3.37:g.134670524C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	202	200	0.990099	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																			C|0.559;T|0.441	0.441	strong		0.498	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134670524	C	T	134670524	2	4	22	1	0	0	0	0	0	0	0	1	5174	796	28	2		2	EPHB1	3	134670524	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	347710	134670524	63351906	2302	7410										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134851605	134851605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatcgtcaatgagacgtcCatcattctggagtggcaccc	9	13	3	1	rs56401137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:134851605C>T	ENST00000398015.3	+	5	1381	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	337	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGAGACGTCCATCATTCTGG	0.557													C|||	219	0.04373	0.1558	0.0159	5008	,	,		19823	0.0		0.002	False		,,,				2504	0.0				p.S337S		Atlas-SNP	.											.	EPHB1	519	.	0			c.C1011T						PASS	.	C		511,3605		36,439,1583	54	57	56		1011	1.8	1	3	dbSNP_129	56	10,8396		0,10,4193	no	coding-synonymous	EPHB1	NM_004441.4		36,449,5776	TT,TC,CC		0.119,12.415,4.1607		337/985	134851605	521,12001	2058	4203	6261	SO:0001819	synonymous_variant	2047	exon5			GACGTCCATCATT	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1011C>T	3.37:g.134851605C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	205	95	0.463415	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																			C|0.967;T|0.033	0.033	strong		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134851605	C	T	134851605	2	4	22	1	0	0	0	0	0	0	0	1	5174	581	21	2		2	EPHB1	3	134851605	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	181081	134851605	63170825	2303	7411										
STAG1	10274	hgsc.bcm.edu	37	chr3	136062724	136062724	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagactcaggttcttgaatCtggtctcccatgggccgact	10	12	5	2	rs34149860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:136062724C>G	ENST00000383202.2	-	30	3652	c.3396G>C	c.(3394-3396)caG>caC	p.Q1132H	STAG1_ENST00000434713.2_Missense_Mutation_p.Q872H|STAG1_ENST00000236698.5_Missense_Mutation_p.Q1132H|STAG1_ENST00000536929.1_Missense_Mutation_p.Q716H	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1132			Q -> H (in dbSNP:rs34149860).		chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTTCTTGAATCTGGTCTCCCA	0.448													C|||	436	0.0870607	0.3124	0.0303	5008	,	,		20341	0.0		0.002	False		,,,				2504	0.0				p.Q1132H		Atlas-SNP	.											.	STAG1	135	.	0			c.G3396C						PASS	.	C	HIS/GLN	1218,3188	421.7+/-339.5	170,878,1155	100	99	99		3396	3.5	1	3	dbSNP_126	99	12,8588	8.4+/-32.0	0,12,4288	yes	missense	STAG1	NM_005862.2	24	170,890,5443	GG,GC,CC		0.1395,27.6441,9.4572	benign	1132/1259	136062724	1230,11776	2203	4300	6503	SO:0001583	missense	10274	exon30			TTGAATCTGGTCT	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3396G>C	3.37:g.136062724C>G	ENSP00000372689:p.Gln1132His	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	160	87	0.54375	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	157	0.07188644688644688	145	0.29471544715447157	11	0.03038674033149171	0	0.0	1	0.0013192612137203166	C	8.880	0.951348	0.18431	0.276441	0.001395	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.32272	1.87;1.9;1.85;1.46	5.48	3.45	0.39498	.	0.196262	0.47455	D	0.000221	T	0.00012	0.0000	N	0.11201	0.11	0.26204	P	0.9793941	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.34725	-0.9817	9	0.41790	T	0.15	.	9.8937	0.41304	0.0:0.7454:0.0:0.2546	rs34149860	1132;1132	Q6P275;Q8WVM7	.;STAG1_HUMAN	H	1132;1132;872;716	ENSP00000372689:Q1132H;ENSP00000236698:Q1132H;ENSP00000404396:Q872H;ENSP00000445787:Q716H	ENSP00000236698:Q1132H	Q	-	3	2	STAG1	137545414	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.602000	0.36783	1.316000	0.45131	-0.137000	0.14449	CAG	C|0.914;G|0.086	0.086	strong		0.448	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		G	136062724	C	G	136062724	3	3	22	1	0	0	0	0	1	0	0	0	15241	912	32	4	400	4	STAG1	3	136062724	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1211119	136062724	61959706	2304	7412										
STAG1	10274	hgsc.bcm.edu	37	chr3	136088038	136088038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagtccagtatctggattGaacaccaaaggctgaaggcc	12	9	1	2	rs9860801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:136088038G>A	ENST00000383202.2	-	24	2713	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	STAG1_ENST00000434713.2_Silent_p.F593F|STAG1_ENST00000236698.5_Silent_p.F819F|STAG1_ENST00000536929.1_Silent_p.F403F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	819					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATCTGGATTGAACACCAAAG	0.448													A|||	1517	0.302915	0.5522	0.2017	5008	,	,		15257	0.0585		0.3022	False		,,,				2504	0.2904				p.F819F		Atlas-SNP	.											.	STAG1	135	.	0			c.C2457T						PASS	.	A		2295,2111	576.3+/-384.2	609,1077,517	90	89	90		2457	3	1	3	dbSNP_119	90	2836,5764	675.1+/-403.2	465,1906,1929	no	coding-synonymous	STAG1	NM_005862.2		1074,2983,2446	AA,AG,GG		32.9767,47.9119,39.451		819/1259	136088038	5131,7875	2203	4300	6503	SO:0001819	synonymous_variant	10274	exon24			TGGATTGAACACC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2457C>T	3.37:g.136088038G>A		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_005862	O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																			G|0.655;A|0.344	0.344	strong		0.448	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		A	136088038	G	A	136088038	2	1	22	1	0	0	0	0	0	0	0	1	15241	1281	45	2		2	STAG1	3	136088038	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25314	136088038	61934392	2305	7413										
DZIP1L	199221	hgsc.bcm.edu	37	chr3	137787173	137787173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcctggtctttggctggGcctctctggtgaccagtgtg	16	10	2	1	rs11917468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:137787173G>A	ENST00000327532.2	-	13	2014	c.1652C>T	c.(1651-1653)gCc>gTc	p.A551V	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	551			A -> V (in dbSNP:rs11917468).		cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTTTGGCTGGGCCTCTCTGGT	0.577											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	262	0.0523163	0.1868	0.0202	5008	,	,		16312	0.0		0.001	False		,,,				2504	0.0				p.A551V		Atlas-SNP	.											.	DZIP1L	88	.	0			c.C1652T						PASS	.	G	VAL/ALA	707,3699	290.1+/-280.8	50,607,1546	71	78	75		1652	-2.2	0	3	dbSNP_120	75	12,8588	9.1+/-34.3	0,12,4288	yes	missense	DZIP1L	NM_173543.2	64	50,619,5834	AA,AG,GG		0.1395,16.0463,5.5282	benign	551/768	137787173	719,12287	2203	4300	6503	SO:0001583	missense	199221	exon13			GGCTGGGCCTCTC	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1652C>T	3.37:g.137787173G>A	ENSP00000332148:p.Ala551Val	Somatic	209	0	0	1636	WXS	Illumina HiSeq	Phase_I	166	77	0.463855	NM_173543	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	72	0.03296703296703297	66	0.13414634146341464	6	0.016574585635359115	0	0.0	0	0.0	G	3.102	-0.184558	0.06340	0.160463	0.001395	ENSG00000158163	ENST00000327532	T	0.39056	1.1	4.91	-2.15	0.07102	.	1.124280	0.06592	N	0.752174	T	0.00073	0.0002	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17379	-1.0371	10	0.20046	T	0.44	0.1447	9.7913	0.40708	0.6267:0.0:0.3733:0.0	rs11917468;rs52808108;rs11917468	551	Q8IYY4	DZI1L_HUMAN	V	551	ENSP00000332148:A551V	ENSP00000332148:A551V	A	-	2	0	DZIP1L	139269863	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.062000	0.11674	-0.389000	0.07786	0.650000	0.86243	GCC	G|0.948;A|0.052	0.052	strong		0.577	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		A	137787173	G	A	137787173	3	1	22	1	0	0	0	0	1	0	0	0	4864	1203	42	2	667	2	DZIP1L	3	137787173	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1699135	137787173	60235257	2306	7414										
ESYT3	83850	hgsc.bcm.edu	37	chr3	138176436	138176436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggtcaacggtgtcaaggcAcacactaatacgtgcaaccg	11	11	2	0	rs35605373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:138176436A>G	ENST00000389567.4	+	4	717	c.531A>G	c.(529-531)gcA>gcG	p.A177A	ESYT3_ENST00000289135.4_Silent_p.A177A	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	177	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGTCAAGGCACACACTAATA	0.587													A|||	118	0.0235623	0.0825	0.013	5008	,	,		20302	0.0		0.0	False		,,,				2504	0.0				p.A177A		Atlas-SNP	.											.	ESYT3	64	.	0			c.A531G						PASS	.	A		310,4096	166.5+/-197.7	5,300,1898	182	160	168		531	-10.9	0	3	dbSNP_126	168	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ESYT3	NM_031913.3		5,304,6194	GG,GA,AA		0.0465,7.0359,2.4143		177/887	138176436	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	83850	exon4			CAAGGCACACACT	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.531A>G	3.37:g.138176436A>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	154	75	0.487013	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	CCDS3101.2																																																																																			A|0.975;G|0.025	0.025	strong		0.587	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		G	138176436	A	G	138176436	2	3	22	1	0	0	0	0	0	0	0	1	5266	146	6	2		2	ESYT3	3	138176436	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	389263	138176436	59845994	2307	7415										
RBP1	5947	hgsc.bcm.edu	37	chr3	139257727	139257727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagcgtgcggatgatcaTatggtcaccgtcctgcacga	12	12	3	1	rs34674353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:139257727T>C	ENST00000483943.2	-	2	334	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.M112V|RBP1_ENST00000492918.1_Missense_Mutation_p.M112V|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	50					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CGGATGATCATATGGTCACCG	0.532													T|||	48	0.00958466	0.034	0.0043	5008	,	,		19972	0.0		0.0	False		,,,				2504	0.0				p.M112V		Atlas-SNP	.											.	RBP1	39	.	0			c.A334G						PASS	.	T	VAL/MET,VAL/MET,VAL/MET	98,4308	79.3+/-117.8	0,98,2105	242	194	210		334,334,334	5.3	1	3	dbSNP_126	210	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	RBP1	NM_002899.3,NM_001130993.1,NM_001130992.1	21,21,21	0,100,6403	CC,CT,TT		0.0233,2.2242,0.7689	benign,benign,benign	112/198,112/154,112/158	139257727	100,12906	2203	4300	6503	SO:0001583	missense	5947	exon2			TGATCATATGGTC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.334A>G	3.37:g.139257727T>C	ENSP00000424813:p.Met112Val	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	274	141	0.514599	NM_002899	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	CCDS46925.1	13	0.005952380952380952	11	0.022357723577235773	2	0.0055248618784530384	0	0.0	0	0.0	T	14.91	2.676656	0.47886	0.022242	2.33E-4	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.21031	2.03;2.03;2.03	5.28	5.28	0.74379	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.057277	0.64402	D	0.000002	T	0.12050	0.0293	L	0.33485	1.01	0.45979	D	0.998796	P;P;B	0.37548	0.599;0.543;0.04	P;B;B	0.45167	0.472;0.243;0.072	T	0.02484	-1.1152	10	0.28530	T	0.3	.	14.3982	0.67025	0.0:0.0:0.0:1.0	rs34674353	112;112;50	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	V	112	ENSP00000232219:M112V;ENSP00000424813:M112V;ENSP00000429166:M112V	ENSP00000232219:M112V	M	-	1	0	RBP1	140740417	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	4.774000	0.62339	1.988000	0.58038	0.455000	0.32223	ATG	T|0.992;C|0.008	0.008	strong		0.532	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		C	139257727	T	C	139257727	3	2	22	1	0	0	0	0	1	0	0	0	13155	1406	49	2	339	2	RBP1	3	139257727	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1081291	139257727	58764703	2308	7416										
RBP1	5947	hgsc.bcm.edu	37	chr3	139258508	139258508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggggacagggggctctgcGgggcggcgacagctggattc	20	11	1	0	rs2071386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:139258508G>A	ENST00000483943.2	-	1	53	c.53C>T	c.(52-54)cCg>cTg	p.P18L	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.P18L|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.P18L	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	0					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GGGGCTCTGCGGGGCGGCGAC	0.746													G|||	851	0.169928	0.2943	0.232	5008	,	,		12066	0.13		0.0716	False		,,,				2504	0.1002				p.P18L		Atlas-SNP	.											.	RBP1	39	.	0			c.C53T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO	304,1066		35,234,416	6	10	9		53,53,53	2.1	0.9	3	dbSNP_96	9	195,2969		4,187,1391	yes	missense,missense,missense	RBP1	NM_001130992.1,NM_001130993.1,NM_002899.3	98,98,98	39,421,1807	AA,AG,GG		6.1631,22.1898,11.0057	possibly-damaging,possibly-damaging,possibly-damaging	18/158,18/154,18/198	139258508	499,4035	685	1582	2267	SO:0001583	missense	5947	exon1			CTCTGCGGGGCGG		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.53C>T	3.37:g.139258508G>A	ENSP00000424813:p.Pro18Leu	Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	11	5	0.454545	NM_002899	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	CCDS46925.1	333	0.15247252747252749	130	0.26422764227642276	80	0.22099447513812154	74	0.12937062937062938	49	0.06464379947229551	G	5.283	0.237637	0.10023	0.221898	0.061631	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.28454	1.86;1.63;1.61	4.11	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.37949	P	0.06740500000000005	P;P	0.47545	0.897;0.897	B;B	0.35278	0.199;0.199	T	0.37619	-0.9698	8	0.20519	T	0.43	.	8.5086	0.33204	0.0:0.0:0.5782:0.4218	rs2071386;rs57968945	18;18	F2Z2F2;E7EWV0	.;.	L	18	ENSP00000232219:P18L;ENSP00000424813:P18L;ENSP00000429166:P18L	ENSP00000232219:P18L	P	-	2	0	RBP1	140741198	0.807000	0.29009	0.909000	0.35828	0.480000	0.33159	0.082000	0.14847	1.049000	0.40321	-0.182000	0.12963	CCG	G|0.850;A|0.150	0.150	strong		0.746	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		A	139258508	G	A	139258508	3	1	22	1	0	0	0	0	1	0	0	0	13155	1116	39	1	624	1	RBP1	3	139258508	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	781	139258508	58763922	2309	7417										
CLSTN2	64084	hgsc.bcm.edu	37	chr3	140281768	140281768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgctcagaactcaatggGcgctacactagcaatgagtt	10	9	2	2	rs35951028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:140281768G>A	ENST00000458420.3	+	14	2518	c.2328G>A	c.(2326-2328)ggG>ggA	p.G776G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	776					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACTCAATGGGCGCTACACTA	0.542										HNSCC(16;0.037)			G|||	111	0.0221645	0.0779	0.0115	5008	,	,		21673	0.0		0.0	False		,,,				2504	0.0				p.G776G	GBM(45;858 913 3709 36904 37282)	Atlas-SNP	.											.	CLSTN2	190	.	0			c.G2328A						PASS	.	G		331,4075	175.5+/-204.9	8,315,1880	60	58	59		2328	3.8	1	3	dbSNP_126	59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CLSTN2	NM_022131.2		8,319,6176	AA,AG,GG		0.0465,7.5125,2.5757		776/956	140281768	335,12671	2203	4300	6503	SO:0001819	synonymous_variant	64084	exon14			CAATGGGCGCTAC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2328G>A	3.37:g.140281768G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	128	127	0.992188	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	CCDS3112.1																																																																																			G|0.973;A|0.027	0.027	strong		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140281768	G	A	140281768	2	1	22	1	0	0	0	0	0	0	0	1	3562	1190	42	2		2	CLSTN2	3	140281768	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1023260	140281768	57740662	2310	7418										
SPSB4	92369	hgsc.bcm.edu	37	chr3	140785175	140785175	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaccggctcaccttccacCggcaccccgtggcccagagc	10	20	1	1	rs890529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:140785175C>A	ENST00000310546.2	+	2	973	c.229C>A	c.(229-231)Cgg>Agg	p.R77R		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	77	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CACCTTCCACCGGCACCCCGT	0.736													C|||	2150	0.429313	0.7148	0.3602	5008	,	,		12691	0.3571		0.2455	False		,,,				2504	0.3558				p.R77R		Atlas-SNP	.											.	SPSB4	19	.	0			c.C229A						PASS	.	C		2664,1616		874,916,350	14	12	12		229	3.4	1	3	dbSNP_86	12	1857,6623		273,1311,2656	yes	coding-synonymous	SPSB4	NM_080862.1		1147,2227,3006	AA,AC,CC		21.8986,37.757,35.431		77/274	140785175	4521,8239	2140	4240	6380	SO:0001819	synonymous_variant	92369	exon2			TTCCACCGGCACC		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.229C>A	3.37:g.140785175C>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	35	25	0.714286	NM_080862		Silent	SNP	ENST00000310546.2	37	CCDS3115.1																																																																																			C|0.613;A|0.387	0.387	strong		0.736	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		A	140785175	C	A	140785175	2	1	22	1	0	0	0	0	0	0	0	1	15114	643	23	4		4	SPSB4	3	140785175	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	503407	140785175	57237255	2311	7419										
ACPL2	92370	hgsc.bcm.edu	37	chr3	141006162	141006162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcatctctctaggaaaccGtatcacccaaaactggaagc	6	12	4	0	rs34601454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141006162G>A	ENST00000286353.4	+	5	509	c.372G>A	c.(370-372)ccG>ccA	p.P124P	ACPL2_ENST00000504264.1_Silent_p.P107P|ACPL2_ENST00000508812.1_Silent_p.P115P|ACPL2_ENST00000393007.1_Silent_p.P108P|ACPL2_ENST00000502783.1_Silent_p.P86P|ACPL2_ENST00000393010.2_Silent_p.P124P|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		124						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CTAGGAAACCGTATCACCCAA	0.473													G|||	162	0.0323482	0.1157	0.013	5008	,	,		20337	0.0		0.0	False		,,,				2504	0.0				p.P124P		Atlas-SNP	.											.	ACPL2	50	.	0			c.G372A						PASS	.	G	,	377,4029	189.9+/-215.9	16,345,1842	151	158	155		372,372	-11.3	0	3	dbSNP_126	155	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ACPL2	NM_001037172.1,NM_152282.3	,	16,348,6139	AA,AG,GG		0.0349,8.5565,2.9217	,	124/481,124/481	141006162	380,12626	2203	4300	6503	SO:0001819	synonymous_variant	92370	exon7			GAAACCGTATCAC																												ENST00000286353.4:c.372G>A	3.37:g.141006162G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_152282	D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	CCDS3116.1																																																																																			G|0.969;A|0.031	0.031	strong		0.473	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			A	141006162	G	A	141006162	2	1	22	1	0	0	0	0	0	0	0	1	166	1132	40	1		1	ACPL2	3	141006162	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	220987	141006162	57016268	2312	7420										
ZBTB38	253461	hgsc.bcm.edu	37	chr3	141162185	141162185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaaggagatgtccattttTccagggaagatgaaaatcaa	10	5	1	4	rs16851435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141162185T>G	ENST00000514251.1	+	4	1234	c.955T>G	c.(955-957)Tcc>Gcc	p.S319A	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S319A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S320A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTCCATTTTTCCAGGGAAGA	0.458													T|||	847	0.169129	0.087	0.2219	5008	,	,		20680	0.3095		0.1113	False		,,,				2504	0.1575				p.S319A		Atlas-SNP	.											.	ZBTB38	92	.	0			c.T955G						PASS	.	T	ALA/SER	372,3436		17,338,1549	69	68	68		955	-2.6	0	3	dbSNP_123	68	862,7360		40,782,3289	yes	missense	ZBTB38	NM_001080412.2	99	57,1120,4838	GG,GT,TT		10.4841,9.7689,10.2577	benign	319/1196	141162185	1234,10796	1904	4111	6015	SO:0001583	missense	253461	exon8			CATTTTTCCAGGG	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.955T>G	3.37:g.141162185T>G	ENSP00000426387:p.Ser319Ala	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	124	50	0.403226	NM_001080412		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	385	0.1762820512820513	42	0.08536585365853659	71	0.19613259668508287	194	0.33916083916083917	78	0.10290237467018469	T	3.800	-0.041870	0.07452	0.097689	0.104841	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09350	3.39;2.99;2.99;3.0	5.28	-2.59	0.06209	.	0.690156	0.14567	N	0.311714	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.16603	0.018	B	0.16289	0.015	T	0.48410	-0.9038	8	.	.	.	-1.5088	11.4515	0.50156	0.0:0.5188:0.0:0.4812	rs16851435;rs52829558;rs16851435	319	Q8NAP3	ZBT38_HUMAN	A	319;319;319;320	ENSP00000424254:S319A;ENSP00000426387:S319A;ENSP00000406955:S319A;ENSP00000372635:S320A	.	S	+	1	0	ZBTB38	142644875	0.000000	0.05858	0.019000	0.16419	0.426000	0.31534	-0.438000	0.06905	-0.388000	0.07797	-0.353000	0.07706	TCC	G|0.170;N|0.000	0.170	strong		0.458	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141162185	T	G	141162185	3	3	22	1	0	0	0	0	1	0	0	0	17536	1783	62	5	957	5	ZBTB38	3	141162185	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	156023	141162185	56860245	2313	7421										
ZBTB38	253461	hgsc.bcm.edu	37	chr3	141163655	141163655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcaaaaccacaaatattGctgaagaaaccagcaaaatt	6	8	0	3	rs3732867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141163655G>A	ENST00000514251.1	+	4	2704	c.2425G>A	c.(2425-2427)Gct>Act	p.A809T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A809T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A810T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CACAAATATTGCTGAAGAAAC	0.428													G|||	118	0.0235623	0.0461	0.0014	5008	,	,		21336	0.0298		0.002	False		,,,				2504	0.0245				p.A809T		Atlas-SNP	.											ZBTB38,NS,carcinoma,-1,1	ZBTB38	92	1	0			c.G2425A						PASS	.	G	THR/ALA	185,3525		8,169,1678	55	54	54		2425	-1.2	0	3	dbSNP_107	54	4,8194		0,4,4095	yes	missense	ZBTB38	NM_001080412.2	58	8,173,5773	AA,AG,GG		0.0488,4.9865,1.5872	benign	809/1196	141163655	189,11719	1855	4099	5954	SO:0001583	missense	253461	exon8			AATATTGCTGAAG	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2425G>A	3.37:g.141163655G>A	ENSP00000426387:p.Ala809Thr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	53	0.53	NM_001080412		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	32	0.014652014652014652	14	0.028455284552845527	1	0.0027624309392265192	16	0.027972027972027972	1	0.0013192612137203166	G	0.034	-1.318516	0.01320	0.049865	4.88E-4	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08896	3.04;3.04;3.04	5.02	-1.2	0.09554	.	2.632110	0.01787	N	0.032085	T	0.01287	0.0042	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.38607	-0.9653	9	.	.	.	3.9658	9.4461	0.38699	0.326:0.0:0.5779:0.0961	rs3732867;rs52837576;rs3732867	810;809	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	809;809;810	ENSP00000426387:A809T;ENSP00000406955:A809T;ENSP00000372635:A810T	.	A	+	1	0	ZBTB38	142646345	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.033000	0.12246	-0.419000	0.07439	-0.813000	0.03139	GCT	G|0.980;A|0.020	0.020	strong		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			A	141163655	G	A	141163655	3	1	22	1	0	0	0	0	1	0	0	0	17536	1319	46	2	2427	2	ZBTB38	3	141163655	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1470	141163655	56858775	2314	7422										
ZBTB38	253461	hgsc.bcm.edu	37	chr3	141163705	141163705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgcaaaacctgctctgccGggaacctccacaaatagtaa	7	12	1	0	rs3732868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141163705G>A	ENST00000514251.1	+	4	2754	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P	ZBTB38_ENST00000321464.5_Silent_p.P826P|ZBTB38_ENST00000441582.2_Silent_p.P825P					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTGCTCTGCCGGGAACCTCCA	0.408													G|||	119	0.023762	0.0461	0.0014	5008	,	,		21124	0.0298		0.003	False		,,,				2504	0.0245				p.P825P		Atlas-SNP	.											.	ZBTB38	92	.	0			c.G2475A						PASS	.	G		187,3519		7,173,1673	61	58	59		2475	-11.1	0	3	dbSNP_107	59	23,8155		0,23,4066	no	coding-synonymous	ZBTB38	NM_001080412.2		7,196,5739	AA,AG,GG		0.2812,5.0459,1.7671		825/1196	141163705	210,11674	1853	4089	5942	SO:0001819	synonymous_variant	253461	exon8			TCTGCCGGGAACC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2475G>A	3.37:g.141163705G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_001080412		Silent	SNP	ENST00000514251.1	37	CCDS43157.1																																																																																			G|0.980;A|0.020	0.020	strong		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			A	141163705	G	A	141163705	2	1	22	1	0	0	0	0	0	0	0	1	17536	1103	39	1		1	ZBTB38	3	141163705	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50	141163705	56858725	2315	7423										
ZBTB38	253461	hgsc.bcm.edu	37	chr3	141163975	141163975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggattccactgacaaaccGtggcgcccttactacaacta	7	14	0	1	rs61732448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141163975G>A	ENST00000514251.1	+	4	3024	c.2745G>A	c.(2743-2745)ccG>ccA	p.P915P	ZBTB38_ENST00000441582.2_Silent_p.P915P|ZBTB38_ENST00000321464.5_Silent_p.P916P					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTGACAAACCGTGGCGCCCTT	0.502													G|||	120	0.0239617	0.0461	0.0014	5008	,	,		19160	0.0298		0.002	False		,,,				2504	0.0266				p.P915P		Atlas-SNP	.											ZBTB38,NS,carcinoma,0,1	ZBTB38	92	1	0			c.G2745A						PASS	.	G		192,3740		8,176,1782	50	51	51		2745	-8.4	0.8	3	dbSNP_129	51	4,8306		0,4,4151	no	coding-synonymous	ZBTB38	NM_001080412.2		8,180,5933	AA,AG,GG		0.0481,4.883,1.601		915/1196	141163975	196,12046	1966	4155	6121	SO:0001819	synonymous_variant	253461	exon8			CAAACCGTGGCGC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2745G>A	3.37:g.141163975G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	31	0.402597	NM_001080412		Silent	SNP	ENST00000514251.1	37	CCDS43157.1																																																																																			G|0.989;A|0.011	0.011	strong		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			A	141163975	G	A	141163975	2	1	22	1	0	0	0	0	0	0	0	1	17536	1132	40	1		1	ZBTB38	3	141163975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	270	141163975	56858455	2316	7424										
RASA2	5922	hgsc.bcm.edu	37	chr3	141248572	141248572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtagccatcaaaaaagaAgacttgtgtaatcacagtgg	9	6	2	2	rs144759014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141248572A>C	ENST00000452898.1	+	4	413	c.378A>C	c.(376-378)gaA>gaC	p.E126D	RASA2_ENST00000286364.3_Missense_Mutation_p.E126D	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	126					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCAAAAAAGAAGACTTGTGTA	0.318													A|||	3	0.000599042	0.0023	0.0	5008	,	,		15787	0.0		0.0	False		,,,				2504	0.0				p.E126D		Atlas-SNP	.											RASA2_ENST00000286364,temporal_lobe,glioma,+2,2	RASA2	169	2	0			c.A378C						PASS	.	A	ASP/GLU	7,4399	12.9+/-30.5	0,7,2196	72	74	74		378	4.7	1	3	dbSNP_134	74	0,8598		0,0,4299	yes	missense	RASA2	NM_006506.2	45	0,7,6495	CC,CA,AA		0.0,0.1589,0.0538	possibly-damaging	126/850	141248572	7,12997	2203	4299	6502	SO:0001583	missense	5922	exon4			AAAAGAAGACTTG	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.378A>C	3.37:g.141248572A>C	ENSP00000391677:p.Glu126Asp	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	17	0.404762	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	A	16.18	3.051372	0.55218	0.001589	0.0	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70869	-0.52;-0.52	5.84	4.68	0.58851	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.055137	0.64402	D	0.000001	T	0.70064	0.3181	M	0.80183	2.485	0.46356	D	0.999007	B;B;B	0.23490	0.051;0.086;0.051	B;B;B	0.31686	0.063;0.134;0.063	T	0.63060	-0.6721	10	0.21014	T	0.42	.	8.3803	0.32468	0.8469:0.0:0.1531:0.0	.	126;126;126	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	D	126	ENSP00000286364:E126D;ENSP00000391677:E126D	ENSP00000286364:E126D	E	+	3	2	RASA2	142731262	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.541000	0.36126	1.030000	0.39839	0.533000	0.62120	GAA	A|1.000;C|0.000	0.000	strong		0.318	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		C	141248572	A	C	141248572	3	2	22	1	0	0	0	0	1	0	0	0	13061	69	3	5	392	5	RASA2	3	141248572	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84597	141248572	56773858	2317	7425										
RASA2	5922	hgsc.bcm.edu	37	chr3	141327474	141327474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcatccctctgtgtatctGaacggaaattggctctgctg	9	10	4	1	rs295323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:141327474G>A	ENST00000452898.1	+	21	2198	c.2163G>A	c.(2161-2163)ctG>ctA	p.L721L	RASA2_ENST00000286364.3_Silent_p.L720L|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	721					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L720L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTGTGTATCTGAACGGAAATT	0.438													A|||	2256	0.450479	0.7315	0.4625	5008	,	,		21103	0.2937		0.3797	False		,,,				2504	0.2965				p.L720L		Atlas-SNP	.											RASA2_ENST00000286364,NS,carcinoma,0,1	RASA2	169	1	1	Substitution - coding silent(1)	stomach(1)	c.G2160A						PASS	.	A		2958,1448	467.4+/-354.8	999,960,244	123	124	124		2160	-10.8	0	3	dbSNP_79	124	3341,5259	643.9+/-400.0	601,2139,1560	no	coding-synonymous	RASA2	NM_006506.2		1600,3099,1804	AA,AG,GG		38.8488,32.8643,48.4315		720/850	141327474	6299,6707	2203	4300	6503	SO:0001819	synonymous_variant	5922	exon21			GTATCTGAACGGA	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2163G>A	3.37:g.141327474G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	221	113	0.511312	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37																																																																																				G|0.523;A|0.477	0.477	strong		0.438	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		A	141327474	G	A	141327474	2	1	22	1	0	0	0	0	0	0	0	1	13061	1277	45	2		2	RASA2	3	141327474	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78902	141327474	56694956	2318	7426										
XRN1	54464	hgsc.bcm.edu	37	chr3	142123841	142123841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcataccagcacattaggcaCtcactatgttggtttctttt	6	10	3	0	rs2306700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:142123841C>T	ENST00000264951.4	-	16	1908	c.1791G>A	c.(1789-1791)gaG>gaA	p.E597E	RNU6-1294P_ENST00000515995.1_RNA|XRN1_ENST00000392981.2_Silent_p.E597E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	597					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACATTAGGCACTCACTATGTT	0.408													C|||	609	0.121605	0.1604	0.0965	5008	,	,		18450	0.1002		0.1481	False		,,,				2504	0.0818				p.E597E		Atlas-SNP	.											.	XRN1	138	.	0			c.G1791A						PASS	.	C	,	645,3761	277.8+/-273.9	46,553,1604	169	152	158		1791,1791	-0.4	1	3	dbSNP_100	158	1196,7404	242.6+/-272.5	79,1038,3183	no	coding-synonymous,coding-synonymous	XRN1	NM_001042604.1,NM_019001.3	,	125,1591,4787	TT,TC,CC		13.907,14.6391,14.155	,	597/1694,597/1707	142123841	1841,11165	2203	4300	6503	SO:0001819	synonymous_variant	54464	exon16			TAGGCACTCACTA	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1791G>A	3.37:g.142123841C>T		Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	294	134	0.455782	NM_001042604	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																			C|0.867;T|0.133	0.133	strong		0.408	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142123841	C	T	142123841	2	4	22	1	0	0	0	0	0	0	0	1	17456	564	20	2		2	XRN1	3	142123841	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	796367	142123841	55898589	2319	7427										
ATR	545	hgsc.bcm.edu	37	chr3	142178144	142178144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgggcaggagaaattctCggaatactttgagtttttca	11	7	2	2	rs2229032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:142178144C>T	ENST00000350721.4	-	43	7395	c.7274G>A	c.(7273-7275)cGa>cAa	p.R2425Q	ATR_ENST00000383101.3_Missense_Mutation_p.R2361Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2425	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		R -> Q (in dbSNP:rs2229032). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R2425Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGAAATTCTCGGAATACTTT	0.403								Other conserved DNA damage response genes					C|||	512	0.102236	0.0658	0.1037	5008	,	,		17089	0.1012		0.172	False		,,,				2504	0.0798				p.R2425Q		Atlas-SNP	.											ATR,NS,carcinoma,0,1	ATR	285	1	1	Substitution - Missense(1)	stomach(1)	c.G7274A						PASS	.	C	GLN/ARG	388,4018	193.6+/-218.7	17,354,1832	67	66	67		7274	-9.1	0.4	3	dbSNP_98	67	1357,7243	264.2+/-285.4	118,1121,3061	yes	missense	ATR	NM_001184.3	43	135,1475,4893	TT,TC,CC		15.7791,8.8062,13.4169	benign	2425/2645	142178144	1745,11261	2203	4300	6503	SO:0001583	missense	545	exon43			AATTCTCGGAATA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7274G>A	3.37:g.142178144C>T	ENSP00000343741:p.Arg2425Gln	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	128	51	0.398438	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	262	0.11996336996336997	27	0.054878048780487805	39	0.10773480662983426	64	0.11188811188811189	132	0.1741424802110818	C	11.32	1.602569	0.28534	0.088062	0.157791	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.76186	-1.0;-1.0	4.58	-9.12	0.00707	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.601425	0.15707	N	0.248596	T	0.00210	0.0006	N	0.16233	0.39	0.44995	P	0.0019900000000000473	B	0.02656	0.0	B	0.04013	0.001	T	0.03278	-1.1053	9	0.16420	T	0.52	0.6971	19.1019	0.93277	0.0:0.161:0.0:0.839	rs2229032;rs17698526;rs57742124;rs2229032	2425	Q13535	ATR_HUMAN	Q	2425;2361	ENSP00000343741:R2425Q;ENSP00000372581:R2361Q	ENSP00000343741:R2425Q	R	-	2	0	ATR	143660834	0.963000	0.33076	0.437000	0.26809	0.948000	0.59901	0.044000	0.13992	-2.531000	0.00491	-1.406000	0.01132	CGA	C|0.883;T|0.117	0.117	strong		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142178144	C	T	142178144	3	4	22	1	0	0	0	0	1	0	0	0	1204	884	31	1	680	1	ATR	3	142178144	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54303	142178144	55844286	2320	7428										
ATR	545	hgsc.bcm.edu	37	chr3	142222245	142222245	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgagtgataacagtagaCagctgaccaagacctaacat	8	10	0	5			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:142222245C>A	ENST00000350721.4	-	30	5368	c.5247G>T	c.(5245-5247)ctG>ctT	p.L1749L	ATR_ENST00000383101.3_Silent_p.L1685L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1749	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAACAGTAGACAGCTGACCAA	0.294								Other conserved DNA damage response genes																													p.L1749L		Atlas-SNP	.											ATR,colon,carcinoma,-1,1	ATR	285	1	0			c.G5247T						scavenged	.						56	54	55					3																	142222245		2203	4296	6499	SO:0001819	synonymous_variant	545	exon30			AGTAGACAGCTGA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5247G>T	3.37:g.142222245C>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	234	4	0.017094	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																			.	.	none		0.294	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142222245	C	A	142222245	2	1	22	1	0	0	0	0	0	0	0	1	1204	465	17	4		4	ATR	3	142222245	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44101	142222245	55800185	2321	7429										
SR140	23350	hgsc.bcm.edu	37	chr3	142747230	142747230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtttactataggtggaaGctttattctattctgcaggc	9	7	2	0	rs80238215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:142747230G>A	ENST00000473835.2	+	15	1518	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	U2SURP_ENST00000493598.2_Silent_p.K475K|U2SURP_ENST00000397933.2_Silent_p.K67K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	476					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATAGGTGGAAGCTTTATTCTA	0.313													G|||	35	0.00698882	0.0234	0.0058	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0				p.K476K		Atlas-SNP	.											.	U2SURP	66	.	0			c.G1428A						PASS	.	G		61,3529		1,59,1735	74	70	71		1428	2	1	3	dbSNP_132	71	0,8136		0,0,4068	no	coding-synonymous	U2SURP	NM_001080415.1		1,59,5803	AA,AG,GG		0.0,1.6992,0.5202		476/1030	142747230	61,11665	1795	4068	5863	SO:0001819	synonymous_variant	23350	exon15			GTGGAAGCTTTAT	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1428G>A	3.37:g.142747230G>A		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	184	85	0.461957	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	CCDS46928.1																																																																																			G|0.991;A|0.009	0.009	strong		0.313	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		A	142747230	G	A	142747230	2	1	22	1	0	0	0	0	0	0	0	1	15130	962	34	2		2	SR140	3	142747230	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	524985	142747230	55275200	2322	7430										
SLC9A9	285195	hgsc.bcm.edu	37	chr3	143185920	143185920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggggttgttcctcctccAaatacccagacagtgaagaa	10	10	0	3	rs61734421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:143185920A>G	ENST00000316549.6	-	12	1636	c.1428T>C	c.(1426-1428)ttT>ttC	p.F476F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	476					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCCTCCTCCAAATACCCAGA	0.473													A|||	23	0.00459265	0.0166	0.0014	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.0				p.F476F		Atlas-SNP	.											.	SLC9A9	117	.	0			c.T1428C						PASS	.	A		91,4315	75.2+/-113.4	1,89,2113	141	116	124		1428	-3	0.9	3	dbSNP_129	124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC9A9	NM_173653.3		1,91,6411	GG,GA,AA		0.0233,2.0654,0.7151		476/646	143185920	93,12913	2203	4300	6503	SO:0001819	synonymous_variant	285195	exon12			TCCTCCAAATACC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1428T>C	3.37:g.143185920A>G		Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	314	151	0.480892	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	CCDS33872.1																																																																																			A|0.993;G|0.007	0.007	strong		0.473	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		G	143185920	A	G	143185920	2	3	22	1	0	0	0	0	0	0	0	1	14721	127	5	2		2	SLC9A9	3	143185920	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	438690	143185920	54836510	2323	7431										
C3orf58	205428	hgsc.bcm.edu	37	chr3	143691756	143691756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcgggcagcttcctgctTcgcaacctcaaggactcgga	11	14	1	0	rs139703156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:143691756T>C	ENST00000315691.3	+	1	1117	c.582T>C	c.(580-582)ctT>ctC	p.L194L	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	194					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTTCCTGCTTCGCAACCTCA	0.692													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15454	0.0		0.0	False		,,,				2504	0.0				p.L194L		Atlas-SNP	.											.	C3orf58	36	.	0			c.T582C						PASS	.	C		15,4325		0,15,2155	10	10	10		582	-0.7	1	3	dbSNP_134	10	1,8483		0,1,4241	no	coding-synonymous	C3orf58	NM_173552.3		0,16,6396	CC,CT,TT		0.0118,0.3456,0.1248		194/431	143691756	16,12808	2170	4242	6412	SO:0001819	synonymous_variant	205428	exon1			CCTGCTTCGCAAC	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.582T>C	3.37:g.143691756T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	61	33	0.540984	NM_173552	B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	CCDS3130.1																																																																																			T|0.999;C|0.001	0.001	strong		0.692	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		C	143691756	T	C	143691756	2	2	22	1	0	0	0	0	0	0	0	1	2236	1770	62	2		2	C3orf58	3	143691756	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	505836	143691756	54330674	2324	7432										
PLOD2	5352	hgsc.bcm.edu	37	chr3	145794607	145794607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccagaggtcattgttatAatgggaagtattgtaattag	11	4	1	1	rs115199093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:145794607A>G	ENST00000360060.3	-	14	1753	c.1576T>C	c.(1576-1578)Tat>Cat	p.Y526H	PLOD2_ENST00000282903.5_Missense_Mutation_p.Y547H|PLOD2_ENST00000461497.1_Missense_Mutation_p.Y207H|PLOD2_ENST00000494950.1_Missense_Mutation_p.Y492H|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	526					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCATTGTTATAATGGGAAGTA	0.299													A|||	8	0.00159744	0.0053	0.0014	5008	,	,		15142	0.0		0.0	False		,,,				2504	0.0				p.Y547H		Atlas-SNP	.											.	PLOD2	81	.	0			c.T1639C						PASS	.	A	HIS/TYR,HIS/TYR	26,4380	32.6+/-62.9	0,26,2177	90	98	96		1576,1639	3.7	1	3	dbSNP_132	96	1,8573	1.2+/-3.3	0,1,4286	yes	missense,missense	PLOD2	NM_000935.2,NM_182943.2	83,83	0,27,6463	GG,GA,AA		0.0117,0.5901,0.208	benign,benign	526/738,547/759	145794607	27,12953	2203	4287	6490	SO:0001583	missense	5352	exon15			TGTTATAATGGGA	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1576T>C	3.37:g.145794607A>G	ENSP00000353170:p.Tyr526His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	156	78	0.5	NM_182943	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	17.15	3.315084	0.60524	0.005901	1.17E-4	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.12	3.72	0.42706	.	0.178784	0.50627	D	0.000101	T	0.80834	0.4699	L	0.51422	1.61	0.45183	D	0.99819	P;P;P;P	0.47545	0.865;0.773;0.738;0.897	P;P;P;P	0.52109	0.628;0.492;0.69;0.497	T	0.79610	-0.1732	10	0.42905	T	0.14	-10.2013	8.8487	0.35186	0.8839:0.0:0.1161:0.0	.	492;526;547;207	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	H	207;547;526;492	ENSP00000419354:Y207H;ENSP00000282903:Y547H;ENSP00000353170:Y526H;ENSP00000420094:Y492H	ENSP00000282903:Y547H	Y	-	1	0	PLOD2	147277297	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.164000	0.50770	0.604000	0.29930	0.529000	0.55759	TAT	A|0.998;G|0.002	0.002	strong		0.299	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		G	145794607	A	G	145794607	3	3	22	1	0	0	0	0	1	0	0	0	12102	362	13	2	661	2	PLOD2	3	145794607	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2102851	145794607	52227823	2325	7433										
PLOD2	5352	hgsc.bcm.edu	37	chr3	145809622	145809622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgactgtatcgaattcacAaagagtgcagccattatcct	8	10	1	1	rs138948307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:145809622A>G	ENST00000360060.3	-	8	1021	c.844T>C	c.(844-846)Tgt>Cgt	p.C282R	PLOD2_ENST00000494950.1_Missense_Mutation_p.C227R|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.C282R	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	282					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCGAATTCACAAAGAGTGCAG	0.343													A|||	3	0.000599042	0.0015	0.0014	5008	,	,		17493	0.0		0.0	False		,,,				2504	0.0				p.C282R		Atlas-SNP	.											.	PLOD2	81	.	0			c.T844C						PASS	.	A	ARG/CYS,ARG/CYS	9,4397	15.5+/-35.6	0,9,2194	104	92	96		844,844	6.1	0.7	3	dbSNP_134	96	0,8600		0,0,4300	yes	missense,missense	PLOD2	NM_000935.2,NM_182943.2	180,180	0,9,6494	GG,GA,AA		0.0,0.2043,0.0692	probably-damaging,probably-damaging	282/738,282/759	145809622	9,12997	2203	4300	6503	SO:0001583	missense	5352	exon8			ATTCACAAAGAGT	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.844T>C	3.37:g.145809622A>G	ENSP00000353170:p.Cys282Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	136	53	0.389706	NM_182943	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172440	0.78452	0.002043	0.0	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	T;T;T	0.69306	-0.39;-0.37;-0.35	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.91635	0.997;0.999;0.903	D	0.87463	0.2409	10	0.87932	D	0	-32.5497	15.6071	0.76682	1.0:0.0:0.0:0.0	.	227;282;282	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	R	282;282;227	ENSP00000282903:C282R;ENSP00000353170:C282R;ENSP00000420094:C227R	ENSP00000282903:C282R	C	-	1	0	PLOD2	147292312	1.000000	0.71417	0.726000	0.30738	0.917000	0.54804	7.900000	0.87376	2.323000	0.78572	0.528000	0.53228	TGT	A|0.999;G|0.001	0.001	strong		0.343	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		G	145809622	A	G	145809622	3	3	22	1	0	0	0	0	1	0	0	0	12102	130	5	2	1484	2	PLOD2	3	145809622	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15015	145809622	52212808	2326	7434										
PLSCR5	389158	hgsc.bcm.edu	37	chr3	146311832	146311832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagtggaacagaaagtacGattgaagcagatgctttcct	11	7	0	4	rs12107687	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:146311832G>T	ENST00000443512.1	-	4	1331	c.328C>A	c.(328-330)Cgt>Agt	p.R110S	PLSCR5_ENST00000492200.1_Missense_Mutation_p.R110S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.R98S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	110			R -> S (in dbSNP:rs12107687).							endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAGAAAGTACGATTGAAGCAG	0.433													G|||	76	0.0151757	0.0545	0.0058	5008	,	,		14788	0.0		0.0	False		,,,				2504	0.0				p.R110S		Atlas-SNP	.											.	PLSCR5	35	.	0			c.C328A						PASS	.	G	SER/ARG	192,3650		3,186,1732	141	139	139		328	5.7	1	3	dbSNP_120	139	2,8270		0,2,4134	yes	missense	PLSCR5	NM_001085420.1	110	3,188,5866	TT,TG,GG		0.0242,4.9974,1.6015	probably-damaging	110/272	146311832	194,11920	1921	4136	6057	SO:0001583	missense	389158	exon4			AAGTACGATTGAA	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.328C>A	3.37:g.146311832G>T	ENSP00000390111:p.Arg110Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	142	72	0.507042	NM_001085420	B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	CCDS46931.1	20	0.009157509157509158	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	0	0.0	G	19.70	3.876593	0.72180	0.049974	2.42E-4	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.56103	0.48;0.48;0.48	5.69	5.69	0.88448	Tubby, C-terminal (1);	.	.	.	.	T	0.44456	0.1294	H	0.94222	3.51	0.39506	D	0.968276	D;D	0.89917	0.984;1.0	P;D	0.83275	0.871;0.996	T	0.76570	-0.2911	9	0.87932	D	0	-22.5708	14.6371	0.68696	0.0:0.0:0.8546:0.1454	rs12107687;rs52836343;rs12107687	98;110	B2RXK5;A0PG75	.;PLS5_HUMAN	S	110;98;110	ENSP00000417184:R110S;ENSP00000418626:R98S;ENSP00000390111:R110S	ENSP00000390111:R110S	R	-	1	0	PLSCR5	147794522	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.190000	0.58365	2.679000	0.91253	0.650000	0.86243	CGT	G|0.987;T|0.013	0.013	strong		0.433	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		T	146311832	G	T	146311832	3	4	22	1	0	0	0	0	1	0	0	0	12113	1058	37	4	503	4	PLSCR5	3	146311832	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	502210	146311832	51710598	2327	7435										
CPB1	1360	hgsc.bcm.edu	37	chr3	148545789	148545789	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctattatctcattattcagCgagaaggtgttccgtgttaa	8	7	3	1	rs80013498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148545789C>T	ENST00000491148.1	+	3	406	c.72C>T	c.(70-72)ggC>ggT	p.G24G	CPB1_ENST00000282957.4_Splice_Site_p.G24G			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	24						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATTATTCAGCGAGAAGGTGT	0.408													C|||	50	0.00998403	0.0356	0.0029	5008	,	,		21398	0.001		0.0	False		,,,				2504	0.0				p.G24G		Atlas-SNP	.											.	CPB1	74	.	0			c.C72T						PASS	.	C		163,4243	110.4+/-148.6	2,159,2042	101	103	102		72	-7.2	0.1	3	dbSNP_131	102	0,8600		0,0,4300	yes	coding-synonymous-near-splice	CPB1	NM_001871.2		2,159,6342	TT,TC,CC		0.0,3.6995,1.2533		24/418	148545789	163,12843	2203	4300	6503	SO:0001630	splice_region_variant	1360	exon2			ATTCAGCGAGAAG	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.72-1C>T	3.37:g.148545789C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	146	71	0.486301	NM_001871	O60834|Q53XJ0|Q96BQ8	Silent	SNP	ENST00000491148.1	37	CCDS33874.1																																																																																			C|0.986;T|0.014	0.014	strong		0.408	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	Silent	T	148545789	C	T	148545789	5	4	22	1	0	0	0	0	0	0	1	0	3796	782	27	1	78	1	CPB1	3	148545789	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2233957	148545789	49476641	2328	7436										
CPA3	1359	hgsc.bcm.edu	37	chr3	148601596	148601596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactgccacctaaccatgaGgacttggtacgtagacaaaa	8	10	0	2	rs140411214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148601596G>A	ENST00000296046.3	+	9	1027	c.975G>A	c.(973-975)gaG>gaA	p.E325E	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	325					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTAACCATGAGGACTTGGTAC	0.398													G|||	21	0.00419329	0.0151	0.0014	5008	,	,		20428	0.0		0.0	False		,,,				2504	0.0				p.E325E		Atlas-SNP	.											.	CPA3	75	.	0			c.G975A						PASS	.	G		66,4340	62.3+/-99.4	0,66,2137	96	80	86		975	0.8	0.1	3	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	CPA3	NM_001870.2		0,66,6437	AA,AG,GG		0.0,1.498,0.5075		325/418	148601596	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	1359	exon9			CCATGAGGACTTG		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.975G>A	3.37:g.148601596G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	143	67	0.468531	NM_001870	Q96E94	Silent	SNP	ENST00000296046.3	37	CCDS3138.1																																																																																			G|0.995;A|0.005	0.005	strong		0.398	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		A	148601596	G	A	148601596	2	1	22	1	0	0	0	0	0	0	0	1	3791	991	35	2		2	CPA3	3	148601596	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55807	148601596	49420834	2329	7437										
GYG1	2992	hgsc.bcm.edu	37	chr3	148714662	148714662	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatacaatcagctgttgcAtcttgcttctgagcaaggta	8	9	3	1	rs35054019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148714662A>T	ENST00000345003.4	+	4	752	c.452A>T	c.(451-453)cAt>cTt	p.H151L	GYG1_ENST00000483267.1_Missense_Mutation_p.H151L|GYG1_ENST00000296048.6_Missense_Mutation_p.H151L|GYG1_ENST00000484197.1_Missense_Mutation_p.H151L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	151					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGCTGTTGCATCTTGCTTCT	0.433													A|||	46	0.0091853	0.0348	0.0	5008	,	,		19931	0.0		0.0	False		,,,				2504	0.0				p.H151L		Atlas-SNP	.											.	GYG1	29	.	0			c.A452T						PASS	.	A	LEU/HIS,LEU/HIS,LEU/HIS	137,4269	98.5+/-137.1	1,135,2067	76	70	72		452,452,452	1.1	0.1	3	dbSNP_126	72	0,8600		0,0,4300	yes	missense,missense,missense	GYG1	NM_001184720.1,NM_001184721.1,NM_004130.3	99,99,99	1,135,6367	TT,TA,AA		0.0,3.1094,1.0534	benign,benign,benign	151/334,151/280,151/351	148714662	137,12869	2203	4300	6503	SO:0001583	missense	2992	exon4			TGTTGCATCTTGC	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.452A>T	3.37:g.148714662A>T	ENSP00000340736:p.His151Leu	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	179	85	0.47486	NM_004130	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	CCDS3139.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	A	11.23	1.576606	0.28092	0.031094	0.0	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000492285;ENST00000461191	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.11	1.11	0.20524	.	0.519143	0.23943	N	0.043027	T	0.24431	0.0592	L	0.33339	1.005	0.20873	N	0.999833	B;B;B;B	0.13145	0.001;0.007;0.001;0.0	B;B;B;B	0.20184	0.004;0.028;0.01;0.005	T	0.31861	-0.9928	10	0.59425	D	0.04	-35.2266	9.9467	0.41613	0.7509:0.0:0.2491:0.0	rs35054019	151;151;151;151	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	L	151;151;151;151;105;151	ENSP00000340736:H151L;ENSP00000296048:H151L;ENSP00000419499:H151L;ENSP00000420683:H151L;ENSP00000418297:H105L;ENSP00000420247:H151L	ENSP00000296048:H151L	H	+	2	0	GYG1	150197352	0.258000	0.24033	0.099000	0.21106	0.896000	0.52359	1.243000	0.32767	-0.028000	0.13850	-0.261000	0.10672	CAT	A|0.990;T|0.010	0.010	strong		0.433	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		T	148714662	A	T	148714662	3	4	22	1	0	0	0	0	1	0	0	0	6905	217	8	5	466	5	GYG1	3	148714662	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113066	148714662	49307768	2330	7438										
HLTF	6596	hgsc.bcm.edu	37	chr3	148768130	148768130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaacataaaaattcaagtgTacatctgattttatatgttg	5	4	2	1	rs16861365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148768130T>C	ENST00000310053.5	-	15	1699	c.1506A>G	c.(1504-1506)gtA>gtG	p.V502V	HLTF_ENST00000392912.2_Silent_p.V502V|HLTF_ENST00000494055.1_Silent_p.V502V|HLTF_ENST00000465259.1_Silent_p.V501V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	502	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATTCAAGTGTACATCTGATT	0.289													T|||	149	0.0297524	0.1097	0.0043	5008	,	,		15001	0.0		0.001	False		,,,				2504	0.0				p.V502V		Atlas-SNP	.											.	HLTF	87	.	0			c.A1506G						PASS	.	T	,	443,3959	207.5+/-228.8	25,393,1783	64	66	65		1506,1506	1.6	1	3	dbSNP_123	65	6,8578	4.3+/-15.6	0,6,4286	no	coding-synonymous,coding-synonymous	HLTF	NM_003071.3,NM_139048.2	,	25,399,6069	CC,CT,TT		0.0699,10.0636,3.4576	,	502/1010,502/1010	148768130	449,12537	2201	4292	6493	SO:0001819	synonymous_variant	6596	exon15			CAAGTGTACATCT	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1506A>G	3.37:g.148768130T>C		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	161	84	0.521739	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	CCDS33875.1																																																																																			T|0.956;C|0.044	0.044	strong		0.289	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			C	148768130	T	C	148768130	2	2	22	1	0	0	0	0	0	0	0	1	7215	1625	57	2		2	HLTF	3	148768130	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53468	148768130	49254300	2331	7439										
HPS3	84343	hgsc.bcm.edu	37	chr3	148881673	148881673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatttatccatgggttcaCgtcgtaatatcatctgattc	6	8	3	1	rs3732557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148881673C>T	ENST00000296051.2	+	14	2666	c.2526C>T	c.(2524-2526)caC>caT	p.H842H	HPS3_ENST00000460120.1_Silent_p.H677H	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	842					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATGGGTTCACGTCGTAATAT	0.279									Hermansky-Pudlak syndrome				C|||	778	0.155351	0.0136	0.1441	5008	,	,		17878	0.2738		0.1799	False		,,,				2504	0.2076				p.H842H		Atlas-SNP	.											.	HPS3	104	.	0			c.C2526T						PASS	.	C		201,4203	120.4+/-158.0	4,193,2005	79	78	78		2526	-2.1	0.1	3	dbSNP_107	78	1627,6969	298.1+/-303.7	162,1303,2833	no	coding-synonymous	HPS3	NM_032383.3		166,1496,4838	TT,TC,CC		18.9274,4.564,14.0615		842/1005	148881673	1828,11172	2202	4298	6500	SO:0001819	synonymous_variant	84343	exon14	Familial Cancer Database	HPS, HPS1-8	GGTTCACGTCGTA	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2526C>T	3.37:g.148881673C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																			C|0.849;T|0.151	0.151	strong		0.279	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148881673	C	T	148881673	2	4	22	1	0	0	0	0	0	0	0	1	7340	535	19	1		1	HPS3	3	148881673	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	113543	148881673	49140757	2332	7440										
CP	1356	hgsc.bcm.edu	37	chr3	148901300	148901300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttctctccactggaacaCggaatgtgctatcagtatac	7	11	2	0	rs115552500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:148901300C>T	ENST00000264613.6	-	13	2640	c.2378G>A	c.(2377-2379)cGt>cAt	p.R793H	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	793	F5/8 type A 3.|Plastocyanin-like 5.		R -> H. {ECO:0000269|PubMed:15557511}.		cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CACTGGAACACGGAATGTGCT	0.373													C|||	61	0.0121805	0.0234	0.013	5008	,	,		13349	0.001		0.0169	False		,,,				2504	0.0031				p.R793H		Atlas-SNP	.											.	CP	112	.	0			c.G2378A	GRCh37	CM045287	CP	M	rs115552500	PASS	.	C	HIS/ARG	89,4317	74.1+/-112.3	1,87,2115	133	118	123		2378	-1.8	0	3	dbSNP_132	123	79,8521	46.3+/-105.2	0,79,4221	yes	missense	CP	NM_000096.3	29	1,166,6336	TT,TC,CC		0.9186,2.02,1.2917	possibly-damaging	793/1066	148901300	168,12838	2203	4300	6503	SO:0001583	missense	1356	exon13			GGAACACGGAATG	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2378G>A	3.37:g.148901300C>T	ENSP00000264613:p.Arg793His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	25	0.011446886446886446	4	0.008130081300813009	8	0.022099447513812154	1	0.0017482517482517483	12	0.0158311345646438	C	14.94	2.684284	0.47991	0.0202	0.009186	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98937	-5.25;-5.25	5.39	-1.8	0.07907	Cupredoxin (2);	1.207680	0.05806	N	0.613068	D	0.93877	0.8041	L	0.49350	1.555	0.09310	N	1	P;P;P	0.47350	0.528;0.802;0.894	B;B;B	0.42653	0.279;0.394;0.394	D	0.90687	0.4610	10	0.42905	T	0.14	0.5473	6.2989	0.21101	0.0:0.338:0.3602:0.3019	.	793;793;793	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	H	793;576	ENSP00000264613:R793H;ENSP00000420545:R576H	ENSP00000264613:R793H	R	-	2	0	CP	150383990	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-0.336000	0.07863	-0.782000	0.04541	0.555000	0.69702	CGT	C|0.987;T|0.013	0.013	strong		0.373	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		T	148901300	C	T	148901300	3	4	22	1	0	0	0	0	1	0	0	0	3787	536	19	1	847	1	CP	3	148901300	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19627	148901300	49121130	2333	7441										
COMMD2	51122	hgsc.bcm.edu	37	chr3	149459413	149459413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggtggctgggtctgtctgCagaactttggtgttgtgatc	16	6	2	2	rs11549572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:149459413C>T	ENST00000473414.1	-	5	549	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	165	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGTCTGTCTGCAGAACTTTGG	0.428													T|||	1404	0.280351	0.6097	0.1354	5008	,	,		13701	0.2609		0.0785	False		,,,				2504	0.1656				p.L165L		Atlas-SNP	.											.	COMMD2	21	.	0			c.G495A						PASS	.	T		2304,2102	573.3+/-383.5	611,1082,510	228	236	234		495	3	0.9	3	dbSNP_120	234	693,7907	788.1+/-407.6	32,629,3639	yes	coding-synonymous	COMMD2	NM_016094.3		643,1711,4149	TT,TC,CC		8.0581,47.7077,23.0432		165/200	149459413	2997,10009	2203	4300	6503	SO:0001819	synonymous_variant	51122	exon5			TGTCTGCAGAACT	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.495G>A	3.37:g.149459413C>T		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	284	147	0.517606	NM_016094	Q561V4|Q9H3L5|Q9Y5V1	Silent	SNP	ENST00000473414.1	37	CCDS3145.1																																																																																			C|0.755;T|0.245	0.245	strong		0.428	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		T	149459413	C	T	149459413	2	4	22	1	0	0	0	0	0	0	0	1	3716	697	25	2		2	COMMD2	3	149459413	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	558113	149459413	48563017	2334	7442										
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150176316	150176316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatcaattatcccaactcCcaacccaacaggccaatcct	3	16	1	1	rs149526922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150176316C>A	ENST00000361875.3	+	4	3252	c.2236C>A	c.(2236-2238)Cca>Aca	p.P746T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P722T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	746					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCCCAACTCCCAACCCAACA	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19128	0.0		0.0	False		,,,				2504	0.0				p.P746T		Atlas-SNP	.											.	TSC22D2	42	.	0			c.C2236A						PASS	.	C	THR/PRO	9,4397	15.5+/-35.6	0,9,2194	117	113	115		2236	4.3	1	3	dbSNP_134	115	0,8600		0,0,4300	yes	missense	TSC22D2	NM_014779.2	38	0,9,6494	AA,AC,CC		0.0,0.2043,0.0692	possibly-damaging	746/781	150176316	9,12997	2203	4300	6503	SO:0001583	missense	9819	exon4			CAACTCCCAACCC	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2236C>A	3.37:g.150176316C>A	ENSP00000354543:p.Pro746Thr	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	275	129	0.469091	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	0.007|0.007	-1.972930|-1.972930	0.00452|0.00452	0.002043|0.002043	0.0|0.0	ENSG00000196428|ENSG00000196428	ENST00000466814|ENST00000543241;ENST00000361875;ENST00000361136	.|T;T	.|0.29917	.|1.55;1.56	5.38|5.38	4.27|4.27	0.50696|0.50696	.|.	0.273316|0.273316	0.25256|0.25256	N|N	0.031991|0.031991	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.04508|0.04508	-0.205|-0.205	0.28151|0.28151	N|N	0.92938|0.92938	.|B;B	.|0.33919	.|0.037;0.432	.|B;B	.|0.33196	.|0.023;0.159	T|T	0.35871|0.35871	-0.9771|-0.9771	6|10	.|0.02654	.|T	.|1	.|.	4.617|4.617	0.12432|0.12432	0.0:0.765:0.0:0.235|0.0:0.765:0.0:0.235	.|.	.|722;746	.|O75157-2;O75157	.|.;T22D2_HUMAN	H|T	169|195;746;722	.|ENSP00000354543:P746T;ENSP00000354893:P722T	.|ENSP00000354893:P722T	P|P	+|+	2|1	0|0	TSC22D2|TSC22D2	151659006|151659006	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.032000|0.032000	0.12392|0.12392	0.943000|0.943000	0.29030|0.29030	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	CCC|CCA	C|0.999;A|0.001	0.001	strong		0.438	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150176316	C	A	150176316	3	1	22	1	0	0	0	0	1	0	0	0	16605	623	22	4	2250	4	TSC22D2	3	150176316	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	716903	150176316	47846114	2335	7443										
EIF2A	83939	hgsc.bcm.edu	37	chr3	150280445	150280445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaacgtggcagccttacaCtagtaagtattttctcagtg	10	9	1	0	rs1132979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150280445C>G	ENST00000460851.1	+	4	399	c.290C>G	c.(289-291)aCt>aGt	p.T97S	EIF2A_ENST00000273435.5_Missense_Mutation_p.T92S|EIF2A_ENST00000406576.3_Missense_Mutation_p.T97S|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.T72S			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	97			T -> S (in dbSNP:rs1132979). {ECO:0000269|PubMed:12133843, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.4, ECO:0000269|Ref.6}.		positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.T72S(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGCCTTACACTAGTAAGTAT	0.403													C|||	1774	0.354233	0.1611	0.3631	5008	,	,		16648	0.4861		0.3588	False		,,,				2504	0.4683				p.T97S		Atlas-SNP	.											EIF2A_ENST00000487799,NS,carcinoma,0,1	EIF2A	59	1	1	Substitution - Missense(1)	stomach(1)	c.C290G						PASS	.	C	SER/THR	631,3103		45,541,1281	67	61	63		290	5.9	1	3	dbSNP_86	63	2865,5335		508,1849,1743	yes	missense	EIF2A	NM_032025.3	58	553,2390,3024	GG,GC,CC		34.939,16.8988,29.2945	benign	97/586	150280445	3496,8438	1867	4100	5967	SO:0001583	missense	83939	exon4			CTTACACTAGTAA	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.290C>G	3.37:g.150280445C>G	ENSP00000417229:p.Thr97Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	35	17	0.485714	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	797	0.3649267399267399	90	0.18292682926829268	141	0.38950276243093923	287	0.5017482517482518	279	0.36807387862796836	C	13.40	2.226881	0.39399	0.168988	0.34939	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435	T;T;T;T;T	0.54071	0.9;0.9;0.59;0.9;0.9	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);	0.266752	0.40222	N	0.001157	T	0.00012	0.0000	N	0.05012	-0.13	0.09310	P	1.0	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.12156	0.007;0.002;0.003	T	0.43228	-0.9404	9	0.10902	T	0.67	-6.8954	20.1894	0.98226	0.0:1.0:0.0:0.0	rs1132979;rs2049228;rs3194341;rs11537792;rs16862740;rs17418293;rs52804311;rs1132979	97;72;97	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	S	72;97;97;97;92	ENSP00000420537:T72S;ENSP00000417229:T97S;ENSP00000385292:T97S;ENSP00000418698:T97S;ENSP00000273435:T92S	ENSP00000273435:T92S	T	+	2	0	EIF2A	151763135	0.999000	0.42202	1.000000	0.80357	0.933000	0.57130	2.755000	0.47540	2.781000	0.95711	0.591000	0.81541	ACT	C|0.635;G|0.365	0.365	strong		0.403	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		G	150280445	C	G	150280445	3	3	22	1	0	0	0	0	1	0	0	0	4995	565	20	4	304	4	EIF2A	3	150280445	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104129	150280445	47741985	2336	7444										
EIF2A	83939	hgsc.bcm.edu	37	chr3	150285535	150285535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgattttgtattatcaccTggaccccaaccatacaaggt	6	10	1	1	rs376872417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150285535T>C	ENST00000460851.1	+	7	640	c.531T>C	c.(529-531)ccT>ccC	p.P177P	SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_5'Flank|EIF2A_ENST00000406576.3_Silent_p.P116P|EIF2A_ENST00000487799.1_Silent_p.P152P|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Silent_p.P172P			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	177					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TATTATCACCTGGACCCCAAC	0.279													T|||	3	0.000599042	0.0023	0.0	5008	,	,		19889	0.0		0.0	False		,,,				2504	0.0				p.P177P		Atlas-SNP	.											.	EIF2A	59	.	0			c.T531C						PASS	.	T		3,3595		0,3,1796	77	67	70		531	2.2	1	3		70	0,8122		0,0,4061	no	coding-synonymous	EIF2A	NM_032025.3		0,3,5857	CC,CT,TT		0.0,0.0834,0.0256		177/586	150285535	3,11717	1799	4061	5860	SO:0001819	synonymous_variant	83939	exon7			ATCACCTGGACCC	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.531T>C	3.37:g.150285535T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	187	95	0.508021	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	CCDS46935.1																																																																																			.	.	weak		0.279	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		C	150285535	T	C	150285535	2	2	22	1	0	0	0	0	0	0	0	1	4995	1567	55	3		3	EIF2A	3	150285535	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5090	150285535	47736895	2337	7445										
FAM194A	131831	hgsc.bcm.edu	37	chr3	150391789	150391789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagtcagaaacttgctccCatgtttgtagtgcttctcta	8	9	2	2	rs11919896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150391789C>T	ENST00000295910.6	-	11	1349	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	FAM194A_ENST00000491361.1_Missense_Mutation_p.G287R	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACTTGCTCCCATGTTTGTAG	0.338													C|||	120	0.0239617	0.084	0.0101	5008	,	,		20313	0.0		0.002	False		,,,				2504	0.0				p.G433R		Atlas-SNP	.											.	FAM194A	91	.	0			c.G1297A						PASS	.	C	ARG/GLY	318,4088	171.2+/-201.5	8,302,1893	153	148	149		1297	4.9	0.5	3	dbSNP_120	149	2,8598	1.2+/-3.3	0,2,4298	yes	missense	FAM194A	NM_152394.3	125	8,304,6191	TT,TC,CC		0.0233,7.2174,2.4604	probably-damaging	433/664	150391789	320,12686	2203	4300	6503	SO:0001583	missense	131831	exon11			TGCTCCCATGTTT																												ENST00000295910.6:c.1297G>A	3.37:g.150391789C>T	ENSP00000295910:p.Gly433Arg	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	48	0.02197802197802198	42	0.08536585365853659	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	19.68	3.873229	0.72180	0.072174	2.33E-4	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14893	2.47;2.47	4.94	4.94	0.65067	.	0.238409	0.29307	N	0.012528	T	0.01905	0.0060	M	0.68593	2.085	0.39844	D	0.973152	D	0.89917	1.0	D	0.97110	1.0	T	0.00144	-1.1994	10	0.54805	T	0.06	-12.8489	17.0788	0.86593	0.0:1.0:0.0:0.0	rs11919896;rs52830969;rs11919896	433	Q7L0X2	F194A_HUMAN	R	433;287;391	ENSP00000295910:G433R;ENSP00000419366:G287R	ENSP00000295910:G433R	G	-	1	0	FAM194A	151874479	0.965000	0.33210	0.523000	0.27875	0.854000	0.48673	3.537000	0.53590	2.540000	0.85666	0.655000	0.94253	GGG	C|0.970;T|0.030	0.030	strong		0.338	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			T	150391789	C	T	150391789	3	4	22	1	0	0	0	0	1	0	0	0	5526	594	21	2	710	2	FAM194A	3	150391789	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106254	150391789	47630641	2338	7446										
MED12L	116931	hgsc.bcm.edu	37	chr3	150874033	150874033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcctccagcacgggcgaTggccctgtccctgtgccacc	12	17	0	0	rs61734152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150874033T>C	ENST00000474524.1	+	5	680	c.642T>C	c.(640-642)gaT>gaC	p.D214D	MED12L_ENST00000309237.4_Silent_p.D214D|MED12L_ENST00000273432.4_Silent_p.D214D|MED12L_ENST00000422248.2_Silent_p.D214D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	214						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCACGGGCGATGGCCCTGTCC	0.473													T|||	81	0.0161741	0.059	0.0029	5008	,	,		19291	0.0		0.001	False		,,,				2504	0.0				p.D214D		Atlas-SNP	.											MED12L,NS,carcinoma,+2,1	MED12L	271	1	0			c.T642C						PASS	.	T		264,4142	150.3+/-184.3	8,248,1947	113	106	109		642	-8.9	0	3	dbSNP_129	109	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	MED12L	NM_053002.4		8,252,6243	CC,CT,TT		0.0465,5.9918,2.0606		214/2146	150874033	268,12738	2203	4300	6503	SO:0001819	synonymous_variant	116931	exon5			GGGCGATGGCCCT	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.642T>C	3.37:g.150874033T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																			T|0.983;C|0.017	0.017	strong		0.473	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		C	150874033	T	C	150874033	2	2	22	1	0	0	0	0	0	0	0	1	9429	1461	51	2		2	MED12L	3	150874033	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	482244	150874033	47148397	2339	7447										
MED12L	116931	hgsc.bcm.edu	37	chr3	150911405	150911405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatttttccatctaattaTgacctccttcgccacttaca	2	12	1	1	rs3732755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150911405T>C	ENST00000474524.1	+	14	2135	c.2097T>C	c.(2095-2097)taT>taC	p.Y699Y	MED12L_ENST00000309237.4_Silent_p.Y734Y|MED12L_ENST00000273432.4_Silent_p.Y559Y|MED12L_ENST00000422248.2_Silent_p.Y699Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	699						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCTAATTATGACCTCCTTC	0.373													C|||	710	0.141773	0.2579	0.049	5008	,	,		18675	0.2153		0.0149	False		,,,				2504	0.1053				p.Y699Y		Atlas-SNP	.											.	MED12L	271	.	0			c.T2097C						PASS	.	C		1018,3388	728.6+/-410.0	125,768,1310	140	140	140		2097	-3.9	1	3	dbSNP_107	140	100,8500	814.7+/-407.0	0,100,4200	no	coding-synonymous	MED12L	NM_053002.4		125,868,5510	CC,CT,TT		1.1628,23.1049,8.596		699/2146	150911405	1118,11888	2203	4300	6503	SO:0001819	synonymous_variant	116931	exon14			TAATTATGACCTC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2097T>C	3.37:g.150911405T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	49	0.505155	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1	249	0.11401098901098901	107	0.21747967479674796	15	0.04143646408839779	117	0.20454545454545456	10	0.013192612137203167	C	8.490	0.861903	0.17178	0.231049	0.011628	ENSG00000144893	ENST00000480026	.	.	.	5.18	-3.91	0.04168	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999962	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2088	15.0425	0.71803	0.0:0.4498:0.0:0.5502	rs3732755;rs3732755	.	.	.	R	49	.	.	X	+	1	0	MED12L	152394095	0.685000	0.27652	0.953000	0.39169	0.908000	0.53690	-0.358000	0.07641	-0.987000	0.03494	-0.826000	0.03091	TGA	T|0.896;C|0.104	0.104	strong		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		C	150911405	T	C	150911405	2	2	22	1	0	0	0	0	0	0	0	1	9429	1471	51	2		2	MED12L	3	150911405	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37372	150911405	47111025	2340	7448										
GPR171	29909	hgsc.bcm.edu	37	chr3	150917000	150917000	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtaagcaggaaatcggcTgtaagcaaattaattaagta	10	4	0	1	rs3773614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150917000T>G	ENST00000309180.5	-	3	404	c.174A>C	c.(172-174)acA>acC	p.T58T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	58					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAATCGGCTGTAAGCAAAT	0.413													T|||	591	0.118011	0.2194	0.085	5008	,	,		18283	0.0704		0.0666	False		,,,				2504	0.1063				p.T58T		Atlas-SNP	.											.	GPR171	36	.	0			c.A174C						PASS	.	T	,	897,3509	346.7+/-309.1	88,721,1394	85	83	84		174,	-6.9	0	3	dbSNP_107	84	608,7992	160.0+/-213.2	17,574,3709	no	coding-synonymous,intron	GPR171,MED12L	NM_013308.3,NM_053002.4	,	105,1295,5103	GG,GT,TT		7.0698,20.3586,11.5716	,	58/320,	150917000	1505,11501	2203	4300	6503	SO:0001819	synonymous_variant	29909	exon3			ATCGGCTGTAAGC	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.174A>C	3.37:g.150917000T>G		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	173	88	0.508671	NM_013308	D3DNJ4|Q8IV06	Silent	SNP	ENST00000309180.5	37	CCDS3155.1																																																																																			T|0.882;G|0.118	0.118	strong		0.413	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		G	150917000	T	G	150917000	2	3	22	1	0	0	0	0	0	0	0	1	6668	1567	55	5		5	GPR171	3	150917000	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5595	150917000	47105430	2341	7449										
P2RY14	9934	hgsc.bcm.edu	37	chr3	150931385	150931385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaacagacaaaaaacacAaacacgatgctgaatatgtt	5	8	0	2	rs12631155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:150931385A>G	ENST00000309170.3	-	3	1032	c.720T>C	c.(718-720)ttT>ttC	p.F240F	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.F240F	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	240					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAAAAACACAAACACGATGC	0.408													G|||	407	0.08127	0.2118	0.0187	5008	,	,		20043	0.0228		0.004	False		,,,				2504	0.089				p.F240F		Atlas-SNP	.											.	P2RY14	50	.	0			c.T720C						PASS	.	G	,,	821,3585	741.0+/-411.2	76,669,1458	90	93	92		720,720,	-9.7	0	3	dbSNP_120	92	11,8589	817.8+/-406.9	0,11,4289	no	coding-synonymous,coding-synonymous,intron	P2RY14,MED12L	NM_001081455.1,NM_014879.3,NM_053002.4	,,	76,680,5747	GG,GA,AA		0.1279,18.6337,6.397	,,	240/339,240/339,	150931385	832,12174	2203	4300	6503	SO:0001819	synonymous_variant	9934	exon3			AAACACAAACACG	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.720T>C	3.37:g.150931385A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	117	64	0.547009	NM_014879	Q8IYT7	Silent	SNP	ENST00000309170.3	37	CCDS3156.1																																																																																			A|0.934;G|0.066	0.066	strong		0.408	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		G	150931385	A	G	150931385	2	3	22	1	0	0	0	0	0	0	0	1	11351	127	5	2		2	P2RY14	3	150931385	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14385	150931385	47091045	2342	7450										
GPR87	53836	hgsc.bcm.edu	37	chr3	151017855	151017855	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctcttacgacggcttacTtggtaattttgcaagcgtca	8	9	2	0	rs141290943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151017855T>G	ENST00000260843.4	-	2	498	c.34A>C	c.(34-36)Aat>Cat	p.N12H	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	12					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACGGCTTACTTGGTAATTTT	0.413													T|||	4	0.000798722	0.003	0.0	5008	,	,		18522	0.0		0.0	False		,,,				2504	0.0				p.N12H		Atlas-SNP	.											.	GPR87	52	.	0			c.A34C						PASS	.	T	HIS/ASN,	32,4374	37.6+/-69.7	0,32,2171	102	94	97		34,	1.4	1	3	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,intron	GPR87,MED12L	NM_023915.3,NM_053002.4	68,	0,33,6470	GG,GT,TT		0.0116,0.7263,0.2537	benign,	12/359,	151017855	33,12973	2203	4300	6503	SO:0001630	splice_region_variant	53836	exon2			GCTTACTTGGTAA	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.34+1A>C	3.37:g.151017855T>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	44	0.60274	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	T	9.296	1.051901	0.19827	0.007263	1.16E-4	ENSG00000138271	ENST00000260843	T	0.62232	0.04	4.49	1.38	0.22167	.	0.688041	0.13625	N	0.374112	T	0.28067	0.0692	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.13407	0.009	T	0.04855	-1.0922	9	.	.	.	-0.5324	7.7237	0.28746	0.0:0.8001:0.0:0.1999	.	12	Q9BY21	GPR87_HUMAN	H	12	ENSP00000260843:N12H	.	N	-	1	0	GPR87	152500545	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	1.189000	0.32114	0.152000	0.19188	0.533000	0.62120	AAT	T|0.998;G|0.002	0.002	strong		0.413	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		Missense_Mutation	G	151017855	T	G	151017855	5	3	22	1	0	0	0	0	0	0	1	0	6716	1623	56	5	1050	5	GPR87	3	151017855	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86470	151017855	47004575	2343	7451										
MED12L	116931	hgsc.bcm.edu	37	chr3	151082923	151082923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaagatcctcagtgacaaTgcggccaatcgctacagctt	10	12	1	2	rs1463725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151082923T>C	ENST00000474524.1	+	20	3047	c.3009T>C	c.(3007-3009)aaT>aaC	p.N1003N	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.N863N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1003						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTGACAATGCGGCCAATC	0.483													T|||	961	0.191893	0.2247	0.196	5008	,	,		16584	0.3532		0.0427	False		,,,				2504	0.1319				p.N1003N		Atlas-SNP	.											.	MED12L	271	.	0			c.T3009C						PASS	.	T	,	799,3607	319.1+/-295.9	66,667,1470	211	200	204		,3009	-5	0.7	3	dbSNP_88	204	497,8103	143.4+/-199.5	20,457,3823	no	intron,coding-synonymous	P2RY12,MED12L	NM_022788.3,NM_053002.4	,	86,1124,5293	CC,CT,TT		5.7791,18.1344,9.9646	,	,1003/2146	151082923	1296,11710	2203	4300	6503	SO:0001819	synonymous_variant	116931	exon20			TGACAATGCGGCC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3009T>C	3.37:g.151082923T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	130	58	0.446154	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																			T|0.856;C|0.144	0.144	strong		0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		C	151082923	T	C	151082923	2	2	22	1	0	0	0	0	0	0	0	1	9429	1461	51	2		2	MED12L	3	151082923	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65068	151082923	46939507	2344	7452										
MED12L	116931	hgsc.bcm.edu	37	chr3	151127074	151127074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctttgctgcgcaagcacGgccctcccctcagctccctc	7	20	2	0	rs78970280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151127074G>A	ENST00000474524.1	+	38	5797	c.5759G>A	c.(5758-5760)cGg>cAg	p.R1920Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1920	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCGCAAGCACGGCCCTCCCCT	0.527													G|||	36	0.0071885	0.0265	0.0014	5008	,	,		14258	0.0		0.0	False		,,,				2504	0.0				p.R1920Q		Atlas-SNP	.											MED12L,colon,carcinoma,-1,1	MED12L	271	1	0			c.G5759A						PASS	.	G	GLN/ARG	74,4332	66.4+/-103.9	1,72,2130	74	76	76		5759	5.8	1	3	dbSNP_132	76	0,8600		0,0,4300	yes	missense	MED12L	NM_053002.4	43	1,72,6430	AA,AG,GG		0.0,1.6795,0.569	probably-damaging	1920/2146	151127074	74,12932	2203	4300	6503	SO:0001583	missense	116931	exon38			AAGCACGGCCCTC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5759G>A	3.37:g.151127074G>A	ENSP00000417235:p.Arg1920Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	15.65	2.896847	0.52121	0.016795	0.0	ENSG00000144893	ENST00000474524	T	0.55588	0.51	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.133081	0.51477	D	0.000099	T	0.44582	0.1300	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.52734	-0.8536	10	0.23891	T	0.37	-27.2348	17.7294	0.88373	0.0:0.0:1.0:0.0	.	1920	Q86YW9	MD12L_HUMAN	Q	1920	ENSP00000417235:R1920Q	ENSP00000417235:R1920Q	R	+	2	0	MED12L	152609764	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.424000	0.52764	2.708000	0.92522	0.650000	0.86243	CGG	G|0.993;A|0.007	0.007	strong		0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	151127074	G	A	151127074	3	1	22	1	0	0	0	0	1	0	0	0	9429	1116	39	1	5909	1	MED12L	3	151127074	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44151	151127074	46895356	2345	7453										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151155197	151155197	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctatcagatactgataactTtgtggtccattggaaaatcg	9	7	1	2	rs141741834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151155197T>C	ENST00000282466.3	-	6	7151	c.7152A>G	c.(7150-7152)caA>caG	p.Q2384Q	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2384	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGATAACTTTGTGGTCCAT	0.403													T|||	44	0.00878594	0.0333	0.0	5008	,	,		21182	0.0		0.0	False		,,,				2504	0.0				p.Q2384Q		Atlas-SNP	.											.	IGSF10	279	.	0			c.A7152G						PASS	.	T	,,	84,4322	70.9+/-108.8	0,84,2119	124	124	124		1233,1089,7152	-11.2	0	3	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IGSF10	NM_001178145.1,NM_001178146.1,NM_178822.4	,,	0,84,6419	CC,CT,TT		0.0,1.9065,0.6459	,,	411/651,363/603,2384/2624	151155197	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	285313	exon6			ATAACTTTGTGGT	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7152A>G	3.37:g.151155197T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	129	71	0.550388	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			T|0.993;C|0.007	0.007	strong		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151155197	T	C	151155197	2	2	22	1	0	0	0	0	0	0	0	1	7597	1838	64	2		2	IGSF10	3	151155197	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28123	151155197	46867233	2346	7454										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151165106	151165106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagacagtggatgaatgtTgattggttgtgccttgtatt	13	3	0	3	rs35491609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151165106T>G	ENST00000282466.3	-	4	2662	c.2663A>C	c.(2662-2664)cAa>cCa	p.Q888P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	888					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGATGAATGTTGATTGGTTGT	0.428													T|||	37	0.00738818	0.0272	0.0014	5008	,	,		22524	0.0		0.0	False		,,,				2504	0.0				p.Q888P		Atlas-SNP	.											IGSF10,NS,carcinoma,-1,1	IGSF10	279	1	0			c.A2663C						PASS	.	T	PRO/GLN	99,4307	79.3+/-117.8	0,99,2104	356	355	355		2663	-5	0	3	dbSNP_126	355	0,8600		0,0,4300	yes	missense	IGSF10	NM_178822.4	76	0,99,6404	GG,GT,TT		0.0,2.2469,0.7612	benign	888/2624	151165106	99,12907	2203	4300	6503	SO:0001583	missense	285313	exon4			GAATGTTGATTGG	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2663A>C	3.37:g.151165106T>G	ENSP00000282466:p.Gln888Pro	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	348	156	0.448276	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	T	10.97	1.500447	0.26861	0.022469	0.0	ENSG00000152580	ENST00000282466	T	0.68903	-0.36	5.41	-5.03	0.02973	.	0.536026	0.15865	N	0.240805	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.16541	-1.0399	10	0.20519	T	0.43	.	7.7274	0.28767	0.0:0.217:0.3727:0.4103	rs35491609	888	Q6WRI0	IGS10_HUMAN	P	888	ENSP00000282466:Q888P	ENSP00000282466:Q888P	Q	-	2	0	IGSF10	152647796	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-0.226000	0.09139	-0.598000	0.05806	0.482000	0.46254	CAA	T|0.992;G|0.008	0.008	strong		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		G	151165106	T	G	151165106	3	3	22	1	0	0	0	0	1	0	0	0	7597	1812	63	5	5268	5	IGSF10	3	151165106	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9909	151165106	46857324	2347	7455										
AADAC	13	hgsc.bcm.edu	37	chr3	151545601	151545601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtcatctcttcaaatttGttaattggagttccctgctc	6	10	3	0	rs1803155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:151545601G>A	ENST00000232892.7	+	5	967	c.841G>A	c.(841-843)Gtt>Att	p.V281I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	281			V -> I (in alleles AADAC*2 and AADAC*3; mildly decreased enzyme activity; dbSNP:rs1803155). {ECO:0000269|PubMed:12721789, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:8063807, ECO:0000269|Ref.4}.		positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTCAAATTTGTTAATTGGAG	0.378													G|||	3678	0.734425	0.7731	0.7522	5008	,	,		18459	0.5774		0.7674	False		,,,				2504	0.7975				p.V281I	Ovarian(30;839 841 2699 32801 46334)	Atlas-SNP	.											.	AADAC	49	.	0			c.G841A						PASS	.	G	ILE/VAL	3367,1039	706.3+/-407.4	1274,819,110	57	60	59		841	3.9	0.9	3	dbSNP_89	59	6750,1846	716.5+/-406.1	2657,1436,205	yes	missense	AADAC	NM_001086.2	29	3931,2255,315	AA,AG,GG		21.4751,23.5815,22.1889	possibly-damaging	281/400	151545601	10117,2885	2203	4298	6501	SO:0001583	missense	13	exon5			AAATTTGTTAATT	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.841G>A	3.37:g.151545601G>A	ENSP00000232892:p.Val281Ile	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	1548	0.7087912087912088	380	0.7723577235772358	259	0.7154696132596685	322	0.5629370629370629	587	0.7744063324538258	G	16.66	3.183921	0.57800	0.764185	0.785249	ENSG00000114771	ENST00000232892	T	0.58210	0.35	4.81	3.94	0.45596	.	0.057250	0.64402	N	0.000002	T	0.00012	0.0000	L	0.60957	1.885	0.09310	P	1.0	P	0.40553	0.721	B	0.37144	0.242	T	0.17107	-1.0380	9	0.35671	T	0.21	-7.2416	12.9254	0.58257	0.0794:0.0:0.9206:0.0	rs1803155;rs3732547;rs52798024;rs56910669;rs1803155	281	P22760	AAAD_HUMAN	I	281	ENSP00000232892:V281I	ENSP00000232892:V281I	V	+	1	0	AADAC	153028291	1.000000	0.71417	0.856000	0.33681	0.995000	0.86356	3.772000	0.55325	1.006000	0.39211	0.591000	0.81541	GTT	G|0.250;A|0.750	0.750	strong		0.378	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		A	151545601	G	A	151545601	3	1	22	1	0	0	0	0	1	0	0	0	10	1377	48	2	859	2	AADAC	3	151545601	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	380495	151545601	46476829	2348	7456										
P2RY1	5028	hgsc.bcm.edu	37	chr3	152554357	152554357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaatcgatttacctggtAatcattgtactgactgtttt	7	6	1	2	rs701265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:152554357A>G	ENST00000305097.3	+	1	1622	c.786A>G	c.(784-786)gtA>gtG	p.V262V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	262					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TTTACCTGGTAATCATTGTAC	0.433													G|||	1830	0.365415	0.7852	0.2651	5008	,	,		19943	0.248		0.163	False		,,,				2504	0.1984				p.V262V		Atlas-SNP	.											.	P2RY1	49	.	0			c.A786G						PASS	.	G		2983,1423	463.6+/-353.6	1010,963,230	109	107	108		786	-0.1	1	3	dbSNP_86	108	1271,7329	760.5+/-407.6	87,1097,3116	no	coding-synonymous	P2RY1	NM_002563.2		1097,2060,3346	GG,GA,AA		14.7791,32.2969,32.708		262/374	152554357	4254,8752	2203	4300	6503	SO:0001819	synonymous_variant	5028	exon1			CCTGGTAATCATT	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.786A>G	3.37:g.152554357A>G		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	187	187	1	NM_002563		Silent	SNP	ENST00000305097.3	37	CCDS3169.1																																																																																			A|0.653;G|0.347	0.347	strong		0.433	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		G	152554357	A	G	152554357	2	3	22	1	0	0	0	0	0	0	0	1	11346	349	13	2		2	P2RY1	3	152554357	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1008756	152554357	45468073	2349	7457										
SGEF	26084	hgsc.bcm.edu	37	chr3	153840389	153840389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccccgaacgggggctctTtcctgggccccagaaaagtt	13	13	1	1	rs13096373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:153840389T>C	ENST00000356448.4	+	2	892	c.608T>C	c.(607-609)tTt>tCt	p.F203S	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F203S|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.F203S|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	203			F -> S (in dbSNP:rs13096373). {ECO:0000269|PubMed:15221005}.		endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CGGGGGCTCTTTCCTGGGCCC	0.587													C|||	1624	0.324281	0.469	0.3415	5008	,	,		12777	0.4514		0.1103	False		,,,				2504	0.2055				p.F203S	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-SNP	.											.	ARHGEF26	158	.	0			c.T608C						PASS	.	C	SER/PHE	1414,2216		292,830,693	21	24	23		608	3.9	0	3	dbSNP_121	23	985,7165		80,825,3170	yes	missense	ARHGEF26	NM_015595.3	155	372,1655,3863	CC,CT,TT		12.0859,38.9532,20.365	benign	203/872	153840389	2399,9381	1815	4075	5890	SO:0001583	missense	26084	exon2			GGCTCTTTCCTGG	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.608T>C	3.37:g.153840389T>C	ENSP00000348828:p.Phe203Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	727	0.33287545787545786	250	0.508130081300813	119	0.3287292817679558	276	0.4825174825174825	82	0.10817941952506596	C	0.010	-1.750579	0.00669	0.389532	0.120859	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.47177	0.85;0.85;2.67	3.91	3.91	0.45181	.	0.341216	0.28515	N	0.015074	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46386	-0.9195	9	0.02654	T	1	-3.7174	5.5786	0.17236	0.0:0.6885:0.2012:0.1103	rs13096373	203;203	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	S	203	ENSP00000348828:F203S;ENSP00000423418:F203S;ENSP00000423295:F203S	ENSP00000348828:F203S	F	+	2	0	ARHGEF26	155323079	0.006000	0.16342	0.015000	0.15790	0.141000	0.21300	0.431000	0.21444	0.867000	0.35654	-0.215000	0.12644	TTT	T|0.706;C|0.294	0.294	strong		0.587	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		C	153840389	T	C	153840389	3	2	22	1	0	0	0	0	1	0	0	0	14205	1841	64	2	610	2	SGEF	3	153840389	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1286032	153840389	44182041	2350	7458										
DHX36	170506	hgsc.bcm.edu	37	chr3	154002774	154002774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcttgtttatccaaagcGttctgtaaaggaagagtgtg	10	6	3	1	rs114098462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:154002774G>A	ENST00000496811.1	-	18	2114	c.2034C>T	c.(2032-2034)aaC>aaT	p.N678N	DHX36_ENST00000308361.6_Silent_p.N678N|DHX36_ENST00000329463.5_Silent_p.N664N|DHX36_ENST00000544526.1_Silent_p.N664N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	678					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TATCCAAAGCGTTCTGTAAAG	0.373													G|||	46	0.0091853	0.0325	0.0029	5008	,	,		19458	0.0		0.001	False		,,,				2504	0.0				p.N678N		Atlas-SNP	.											.	DHX36	98	.	0			c.C2034T						PASS	.	G	,	114,4292	87.8+/-126.4	1,112,2090	102	101	101		1992,2034	-4.6	0.8	3	dbSNP_132	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHX36	NM_001114397.1,NM_020865.2	,	1,112,6390	AA,AG,GG		0.0,2.5874,0.8765	,	664/995,678/1009	154002774	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	170506	exon18			CAAAGCGTTCTGT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2034C>T	3.37:g.154002774G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	172	75	0.436047	NM_020865	B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	CCDS3171.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	G	9.279	1.047589	0.19827	0.025874	0.0	ENSG00000174953	ENST00000469977	.	.	.	5.6	-4.64	0.03349	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61113	-0.7128	4	.	.	.	.	15.9172	0.79531	0.4712:0.0:0.5288:0.0	.	.	.	.	M	125	.	.	T	-	2	0	DHX36	155485468	0.990000	0.36364	0.828000	0.32881	0.775000	0.43874	0.509000	0.22707	-1.147000	0.02851	-0.880000	0.02959	ACG	G|0.992;A|0.008	0.008	strong		0.373	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		A	154002774	G	A	154002774	2	1	22	1	0	0	0	0	0	0	0	1	4509	1136	40	1		1	DHX36	3	154002774	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	162385	154002774	44019656	2351	7459										
GPR149	344758	hgsc.bcm.edu	37	chr3	154146922	154146922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggagcgccgagagcagcagActggctgcccacacggtcag	16	13	1	2	rs34792862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:154146922A>G	ENST00000389740.2	-	1	582	c.483T>C	c.(481-483)agT>agC	p.S161S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	161					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAGCAGCAGACTGGCTGCCC	0.642													A|||	814	0.16254	0.112	0.1974	5008	,	,		14601	0.246		0.1392	False		,,,				2504	0.1442				p.S161S		Atlas-SNP	.											.	GPR149	134	.	0			c.T483C						PASS	.	A		464,3572		20,424,1574	22	27	25		483	-2.7	0.9	3	dbSNP_126	25	1177,7171		88,1001,3085	no	coding-synonymous	GPR149	NM_001038705.1		108,1425,4659	GG,GA,AA		14.0992,11.4965,13.251		161/732	154146922	1641,10743	2018	4174	6192	SO:0001819	synonymous_variant	344758	exon1			CAGCAGACTGGCT	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.483T>C	3.37:g.154146922A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	16	0.333333	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																			A|0.841;G|0.159	0.159	strong		0.642	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		G	154146922	A	G	154146922	2	3	22	1	0	0	0	0	0	0	0	1	6654	272	10	2		2	GPR149	3	154146922	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	144148	154146922	43875508	2352	7460										
MME	4311	hgsc.bcm.edu	37	chr3	154802114	154802114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcactctatgcaacctacgAtggtgagttactcccacacc	7	15	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:154802114A>G	ENST00000460393.1	+	2	278	c.158A>G	c.(157-159)gAt>gGt	p.D53G	MME_ENST00000382989.3_Missense_Mutation_p.D53G|MME_ENST00000360490.2_Missense_Mutation_p.D53G|MME_ENST00000493237.1_Missense_Mutation_p.D53G|MME_ENST00000492661.1_Missense_Mutation_p.D53G|MME_ENST00000462745.1_Missense_Mutation_p.D53G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	53					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCAACCTACGATGGTGAGTTA	0.468																																					p.D53G		Atlas-SNP	.											MME,NS,carcinoma,+1,1	MME	133	1	0			c.A158G						scavenged	.						117	108	111					3																	154802114		2203	4300	6503	SO:0001583	missense	4311	exon2			CCTACGATGGTGA		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.158A>G	3.37:g.154802114A>G	ENSP00000418525:p.Asp53Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	92	3	0.0326087	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191233	0.38707	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.92446	-1.61;-1.61;-1.96;-1.61;-1.61;-1.61;-3.04;-3.04;-2.63	5.24	5.24	0.73138	.	1.331950	0.06575	U	0.749290	D	0.87140	0.6103	L	0.34521	1.04	0.43283	D	0.995259	P	0.36483	0.555	B	0.24848	0.056	T	0.76027	-0.3109	10	0.30854	T	0.27	-31.3554	13.6699	0.62418	1.0:0.0:0.0:0.0	.	53	P08473	NEP_HUMAN	G	53	ENSP00000420389:D53G;ENSP00000418525:D53G;ENSP00000420101:D53G;ENSP00000419653:D53G;ENSP00000417079:D53G;ENSP00000353679:D53G;ENSP00000418791:D53G;ENSP00000420542:D53G;ENSP00000417595:D53G	ENSP00000353679:D53G	D	+	2	0	MME	156284808	1.000000	0.71417	0.948000	0.38648	0.440000	0.31957	4.766000	0.62279	2.109000	0.64355	0.460000	0.39030	GAT	.	.	none		0.468	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		G	154802114	A	G	154802114	3	3	22	1	0	0	0	0	1	0	0	0	9645	333	12	2	160	2	MME	3	154802114	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	655192	154802114	43220316	2353	7461										
PLCH1	23007	hgsc.bcm.edu	37	chr3	155314034	155314034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttactttttgccttctcActcttcctagagggtcgcca	7	12	2	1	rs359569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:155314034A>G	ENST00000340059.7	-	2	176	c.177T>C	c.(175-177)agT>agC	p.S59S	PLCH1_ENST00000460012.1_Silent_p.S41S|PLCH1_ENST00000414191.1_Silent_p.S41S|PLCH1_ENST00000494598.1_Silent_p.S59S|PLCH1_ENST00000334686.6_Silent_p.S41S|PLCH1_ENST00000447496.2_Silent_p.S59S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S41S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCCTTCTCACTCTTCCTAG	0.483													G|||	2301	0.459465	0.4002	0.5519	5008	,	,		16578	0.2768		0.7416	False		,,,				2504	0.3722				p.S59S		Atlas-SNP	.											PLCH1,NS,carcinoma,0,1	PLCH1	406	1	1	Substitution - coding silent(1)	prostate(1)	c.T177C						PASS	.	G	,,	2078,2328	606.6+/-390.8	493,1092,618	175	182	180		177,177,123	-1.5	0.8	3	dbSNP_79	180	6161,2439	401.6+/-347.2	2210,1741,349	no	coding-synonymous,coding-synonymous,coding-synonymous	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	2703,2833,967	GG,GA,AA		28.3605,47.163,36.6523	,,	59/1694,59/1003,41/1656	155314034	8239,4767	2203	4300	6503	SO:0001819	synonymous_variant	23007	exon2			CTTCTCACTCTTC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.177T>C	3.37:g.155314034A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	69	43	0.623188	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																			A|0.426;G|0.574	0.574	strong		0.483	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		G	155314034	A	G	155314034	2	3	22	1	0	0	0	0	0	0	0	1	12037	156	6	2		2	PLCH1	3	155314034	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	511920	155314034	42708396	2354	7462										
C3orf33	285315	hgsc.bcm.edu	37	chr3	155493497	155493497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaccttacttacttctcaaTgaagctataataggtaaagt	6	7	1	1	rs377018605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:155493497T>C	ENST00000340171.2	-	3	413	c.315A>G	c.(313-315)tcA>tcG	p.S105S	C3orf33_ENST00000534941.1_Silent_p.S62S			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	105					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACTTCTCAATGAAGCTATAA	0.269													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0				p.S62S		Atlas-SNP	.											.	C3orf33	18	.	0			c.A186G						PASS	.	T		16,3586		0,16,1785	67	70	69		186	-4.1	0.7	3		69	1,8111		0,1,4055	no	coding-synonymous	C3orf33	NM_173657.1		0,17,5840	CC,CT,TT		0.0123,0.4442,0.1451		62/252	155493497	17,11697	1801	4056	5857	SO:0001819	synonymous_variant	285315	exon4			TCTCAATGAAGCT	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.315A>G	3.37:g.155493497T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	100	55	0.55	NM_173657	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Silent	SNP	ENST00000340171.2	37																																																																																				.	.	weak		0.269	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		C	155493497	T	C	155493497	2	2	22	1	0	0	0	0	0	0	0	1	2223	1451	51	2		2	C3orf33	3	155493497	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	179463	155493497	42528933	2355	7463										
SLC33A1	9197	hgsc.bcm.edu	37	chr3	155571275	155571275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatcacgtcgggtgttctgTcatcggtattcccaagcaaa	9	11	3	0	rs3804769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:155571275T>C	ENST00000392845.3	-	1	892	c.512A>G	c.(511-513)gAc>gGc	p.D171G	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D171G|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	171			D -> G (in dbSNP:rs3804769).		acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGGTGTTCTGTCATCGGTATT	0.488													C|||	618	0.123403	0.1271	0.0749	5008	,	,		17837	0.1587		0.0636	False		,,,				2504	0.1779				p.D171G		Atlas-SNP	.											.	SLC33A1	57	.	0			c.A512G						PASS	.	C	GLY/ASP,GLY/ASP	441,3965	785.4+/-414.7	26,389,1788	67	70	69		512,512	5.4	0.8	3	dbSNP_107	69	440,8160	799.5+/-407.4	8,424,3868	yes	missense,missense	SLC33A1	NM_001190992.1,NM_004733.3	94,94	34,813,5656	CC,CT,TT		5.1163,10.0091,6.7738	benign,benign	171/550,171/550	155571275	881,12125	2203	4300	6503	SO:0001583	missense	9197	exon1			GTTCTGTCATCGG	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.512A>G	3.37:g.155571275T>C	ENSP00000376587:p.Asp171Gly	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_004733	B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	CCDS3173.1	210|210	0.09615384615384616|0.09615384615384616	47|47	0.09552845528455285|0.09552845528455285	30|30	0.08287292817679558|0.08287292817679558	85|85	0.1486013986013986|0.1486013986013986	48|48	0.0633245382585752|0.0633245382585752	C|C	9.091|9.091	1.001647|1.001647	0.19121|0.19121	0.100091|0.100091	0.051163|0.051163	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479|ENST00000475842	T;T|.	0.71934|.	-0.61;-0.61|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Major facilitator superfamily domain, general substrate transporter (1);|.	0.155351|.	0.46145|.	N|.	0.000312|.	T|.	0.00241|.	0.0007|.	N|N	0.11131|0.11131	0.1|0.1	0.34001|0.34001	P|P	0.349685|0.349685	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.12656|.	-1.0539|.	9|.	0.11794|.	T|.	0.64|.	-6.2744|-6.2744	14.7771|14.7771	0.69738|0.69738	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	rs3804769;rs52811474;rs3804769|rs3804769;rs52811474;rs3804769	171|.	O00400|.	ACATN_HUMAN|.	G|W	171|2	ENSP00000376587:D171G;ENSP00000352456:D171G|.	ENSP00000352456:D171G|.	D|X	-|-	2|3	0|0	SLC33A1|SLC33A1	157053969|157053969	1.000000|1.000000	0.71417|0.71417	0.763000|0.763000	0.31416|0.31416	0.808000|0.808000	0.45660|0.45660	3.586000|3.586000	0.53950|0.53950	1.449000|1.449000	0.47699|0.47699	-0.124000|-0.124000	0.14976|0.14976	GAC|TGA	T|0.919;C|0.081	0.081	strong		0.488	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		C	155571275	T	C	155571275	3	2	22	1	0	0	0	0	1	0	0	0	14566	1667	58	2	1161	2	SLC33A1	3	155571275	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	77778	155571275	42451155	2356	7464										
KCNAB1	7881	hgsc.bcm.edu	37	chr3	155838488	155838488	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctgggttttctgtagcaGggaaagacaaatctcccaag	11	8	3	1	rs67167156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:155838488G>C	ENST00000490337.1	+	1	152	c.88G>C	c.(88-90)Ggg>Cgg	p.G30R	KCNAB1_ENST00000389636.5_Missense_Mutation_p.G30R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	30					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTGTAGCAGGGAAAGACAA	0.547													G|||	90	0.0179712	0.0666	0.0029	5008	,	,		19474	0.0		0.0	False		,,,				2504	0.0				p.G30R		Atlas-SNP	.											.	KCNAB1	176	.	0			c.G88C						PASS	.	G	ARG/GLY	235,4171	139.6+/-175.2	6,223,1974	86	94	92		88	-2	0	3	dbSNP_130	92	2,8598	1.2+/-3.3	0,2,4298	yes	missense	KCNAB1	NM_172160.2	125	6,225,6272	CC,CG,GG		0.0233,5.3336,1.8222	benign	30/420	155838488	237,12769	2203	4300	6503	SO:0001583	missense	7881	exon1			GTAGCAGGGAAAG	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.88G>C	3.37:g.155838488G>C	ENSP00000419952:p.Gly30Arg	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	99	61	0.616162	NM_172160	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	32	0.014652014652014652	31	0.06300813008130081	1	0.0027624309392265192	0	0.0	0	0.0	G	11.35	1.613207	0.28712	0.053336	2.33E-4	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.10960	3.21;2.82	5.47	-1.96	0.07525	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	0.999998	B;B	0.19583	0.037;0.01	B;B	0.15870	0.014;0.014	T	0.37731	-0.9693	9	0.59425	D	0.04	-10.322	11.9133	0.52751	0.8314:0.0:0.1686:0.0	.	30;30	B7Z8E5;Q14722	.;KCAB1_HUMAN	R	30	ENSP00000419952:G30R;ENSP00000374287:G30R	ENSP00000374287:G30R	G	+	1	0	KCNAB1	157321182	0.884000	0.30299	0.000000	0.03702	0.802000	0.45316	0.538000	0.23160	-0.249000	0.09569	0.557000	0.71058	GGG	G|0.981;C|0.019	0.019	strong		0.547	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		C	155838488	G	C	155838488	3	2	22	1	0	0	0	0	1	0	0	0	8009	1000	35	4	90	4	KCNAB1	3	155838488	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	267213	155838488	42183942	2357	7465										
LEKR1	389170	hgsc.bcm.edu	37	chr3	156763279	156763279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccctcagcaagggcagcCtaacctcccctgctgcagca	9	17	1	0	rs73873779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:156763279C>T	ENST00000470811.1	+	14	2242	c.907C>T	c.(907-909)Cta>Tta	p.L303L	LEKR1_ENST00000356539.4_Silent_p.L607L			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	303										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGGGCAGCCTAACCTCCCC	0.522													C|||	1012	0.202077	0.4788	0.0562	5008	,	,		19648	0.1617		0.0129	False		,,,				2504	0.1677				p.L607L		Atlas-SNP	.											.	LEKR1	66	.	0			c.C1819T						PASS	.	C		1765,2641	525.2+/-371.5	357,1051,795	87	88	88		1819	3.3	0.6	3	dbSNP_130	88	115,8485	59.8+/-121.6	1,113,4186	no	coding-synonymous	LEKR1	NM_001004316.2		358,1164,4981	TT,TC,CC		1.3372,40.059,14.4549		607/693	156763279	1880,11126	2203	4300	6503	SO:0001819	synonymous_variant	389170	exon13			GGCAGCCTAACCT	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.907C>T	3.37:g.156763279C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	121	121	1	NM_001004316		Silent	SNP	ENST00000470811.1	37																																																																																				C|0.852;T|0.148	0.148	strong		0.522	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		T	156763279	C	T	156763279	2	4	22	1	0	0	0	0	0	0	0	1	8717	680	24	2		2	LEKR1	3	156763279	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	924791	156763279	41259151	2358	7466										
CCNL1	57018	hgsc.bcm.edu	37	chr3	156877707	156877707	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgagagcctctcctccggAatcagagagtggtcgatggt	15	10	2	2	rs9814142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:156877707A>T	ENST00000295926.3	-	1	295	c.177T>A	c.(175-177)atT>atA	p.I59I	CCNL1_ENST00000461804.1_Silent_p.I59I|CCNL1_ENST00000295925.4_Silent_p.I59I	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	59					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TCTCCTCCGGAATCAGAGAGT	0.632													A|||	329	0.0656949	0.034	0.0879	5008	,	,		14739	0.0903		0.0477	False		,,,				2504	0.0859				p.I59I		Atlas-SNP	.											CCNL1,NS,carcinoma,0,1	CCNL1	53	1	0			c.T177A						scavenged	.	A		157,4249		2,153,2048	33	29	31		177	-9.6	0	3	dbSNP_119	31	365,8235		10,345,3945	no	coding-synonymous	CCNL1	NM_020307.2		12,498,5993	TT,TA,AA		4.2442,3.5633,4.0135		59/527	156877707	522,12484	2203	4300	6503	SO:0001819	synonymous_variant	57018	exon1			CTCCGGAATCAGA	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.177T>A	3.37:g.156877707A>T		Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	151	80	0.529801	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	ENST00000295926.3	37	CCDS3178.1																																																																																			A|0.954;T|0.046	0.046	strong		0.632	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		T	156877707	A	T	156877707	2	4	22	1	0	0	0	0	0	0	0	1	2931	242	9	5		5	CCNL1	3	156877707	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	114428	156877707	41144723	2359	7467										
GFM1	85476	hgsc.bcm.edu	37	chr3	158372389	158372389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagtagagacaattcccAcccatttgtaggcctggctt	8	13	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:158372389A>C	ENST00000486715.1	+	8	1409	c.1052A>C	c.(1051-1053)cAc>cCc	p.H351P	GFM1_ENST00000478576.1_Missense_Mutation_p.H351P|GFM1_ENST00000264263.5_Missense_Mutation_p.H370P	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GACAATTCCCACCCATTTGTA	0.308																																					p.H351P		Atlas-SNP	.											.	GFM1	83	.	0			c.A1052C						PASS	.																																			SO:0001583	missense	85476	exon8			ATTCCCACCCATT	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1052A>C	3.37:g.158372389A>C	ENSP00000419038:p.His351Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	127	62	0.488189	NM_024996		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225950	0.39300	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000312756	T;T;T	0.79845	-1.31;-1.31;-1.31	5.66	5.66	0.87406	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.216872	0.49305	D	0.000147	T	0.72930	0.3522	N	0.22421	0.69	0.80722	D	1	B;B;B	0.34161	0.439;0.203;0.047	B;B;B	0.39660	0.306;0.162;0.112	T	0.75445	-0.3315	10	0.72032	D	0.01	-10.9205	11.6275	0.51153	0.867:0.0:0.0:0.133	.	370;351;351	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	P	351;351;370;85	ENSP00000419038:H351P;ENSP00000418755:H351P;ENSP00000264263:H370P	ENSP00000264263:H370P	H	+	2	0	GFM1	159855083	0.996000	0.38824	0.988000	0.46212	0.739000	0.42172	5.152000	0.64882	2.140000	0.66376	0.533000	0.62120	CAC	.	.	none		0.308	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158372389	A	C	158372389	3	2	22	1	0	0	0	0	1	0	0	0	6341	159	6	5	1082	5	GFM1	3	158372389	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1494682	158372389	39650041	2360	7468										
MFSD1	64747	hgsc.bcm.edu	37	chr3	158520011	158520011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaggccgacagaggtgccCcggccgcccctggagccctg	15	17	0	1	rs28364680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:158520011C>T	ENST00000264266.8	+	1	132	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000392813.4_Missense_Mutation_p.P73S|MFSD1_ENST00000415822.2_Missense_Mutation_p.P73S			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	24			P -> S (in dbSNP:rs28364680). {ECO:0000269|PubMed:14702039}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGAGGTGCCCCGGCCGCCCC	0.692													C|||	714	0.142572	0.1293	0.1282	5008	,	,		11497	0.1915		0.1501	False		,,,				2504	0.1125				p.P73S	Pancreas(62;1186 1654 36636 37908)	Atlas-SNP	.											.	MFSD1	88	.	0			c.C217T						PASS	.	C	SER/PRO,SER/PRO	517,3867		33,451,1708	13	15	14		217,217	3.2	0	3	dbSNP_125	14	968,7606		69,830,3388	no	missense,missense	MFSD1	NM_022736.2,NM_001167903.1	74,74	102,1281,5096	TT,TC,CC		11.2899,11.7929,11.4601	benign,benign	73/515,73/476	158520011	1485,11473	2192	4287	6479	SO:0001583	missense	64747	exon1			GGTGCCCCGGCCG	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.70C>T	3.37:g.158520011C>T	ENSP00000264266:p.Pro24Ser	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	43	23	0.534884	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		343	0.15705128205128205	68	0.13821138211382114	52	0.143646408839779	107	0.18706293706293706	116	0.15303430079155672	C	17.11	3.306231	0.60305	0.117929	0.112899	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.18502	2.27;2.21;2.33	5.04	3.15	0.36227	Major facilitator superfamily domain, general substrate transporter (1);	1.418460	0.04299	N	0.347069	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.34054	-0.9844	9	0.07325	T	0.83	.	4.8323	0.13447	0.1563:0.6111:0.1508:0.0818	rs28364680;rs59115350	73;24	C9JS94;Q9H3U5	.;MFSD1_HUMAN	S	73;73;24;24	ENSP00000403117:P73S;ENSP00000376560:P73S;ENSP00000264266:P24S	ENSP00000264266:P24S	P	+	1	0	MFSD1	160002705	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.207000	0.03008	1.105000	0.41606	0.563000	0.77884	CCG	C|0.842;T|0.158	0.158	strong		0.692	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		T	158520011	C	T	158520011	3	4	22	1	0	0	0	0	1	0	0	0	9527	623	22	2	219	2	MFSD1	3	158520011	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147622	158520011	39502419	2361	7469										
IFT80	57560	hgsc.bcm.edu	37	chr3	159997061	159997061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaatagcaggatatggtgTtatgctgatgtgaaccaggg	15	4	0	3	rs6778728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:159997061T>A	ENST00000326448.7	-	16	2188	c.1756A>T	c.(1756-1758)Aca>Tca	p.T586S	IFT80_ENST00000496589.1_Missense_Mutation_p.T449S|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T757S|IFT80_ENST00000483465.1_Missense_Mutation_p.T449S	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	586			T -> S (in dbSNP:rs6778728). {ECO:0000269|PubMed:17974005}.		bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGATATGGTGTTATGCTGATG	0.358													A|||	1309	0.261382	0.5598	0.1859	5008	,	,		17580	0.0685		0.2356	False		,,,				2504	0.137				p.T586S		Atlas-SNP	.											.	IFT80	68	.	0			c.A1756T						PASS	.	A	SER/THR,SER/THR,SER/THR	2086,2320	605.2+/-390.5	478,1130,595	96	96	96		1345,1345,1756	2.5	1	3	dbSNP_116	96	2165,6435	712.7+/-405.9	270,1625,2405	yes	missense,missense,missense	IFT80	NM_001190241.1,NM_001190242.1,NM_020800.2	58,58,58	748,2755,3000	AA,AT,TT		25.1744,47.3445,32.6849	benign,benign,benign	449/641,449/641,586/778	159997061	4251,8755	2203	4300	6503	SO:0001583	missense	57560	exon16			ATGGTGTTATGCT	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1756A>T	3.37:g.159997061T>A	ENSP00000312778:p.Thr586Ser	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	180	75	0.416667	NM_020800	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	560	0.2564102564102564	271	0.5508130081300813	77	0.212707182320442	34	0.05944055944055944	178	0.23482849604221637	A	5.706	0.314848	0.10789	0.473445	0.251744	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.69806	0.38;-0.43;-0.43	6.16	2.54	0.30619	.	0.117523	0.36703	N	0.002458	T	0.00012	0.0000	N	0.00205	-1.85	0.53005	P	3.100000000000325E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.45571	-0.9252	9	0.02654	T	1	-25.5461	5.8425	0.18641	0.7021:0.0:0.185:0.1129	rs6778728;rs52833709;rs6778728	586	Q9P2H3	IFT80_HUMAN	S	586;449;449	ENSP00000312778:T586S;ENSP00000418196:T449S;ENSP00000420646:T449S	ENSP00000312778:T586S	T	-	1	0	IFT80	161479755	0.998000	0.40836	0.978000	0.43139	0.955000	0.61496	2.644000	0.46613	-0.015000	0.14150	-0.265000	0.10407	ACA	T|0.699;A|0.301	0.301	strong		0.358	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		A	159997061	T	A	159997061	3	1	22	1	0	0	0	0	1	0	0	0	7564	1725	60	5	597	5	IFT80	3	159997061	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1477050	159997061	38025369	2362	7470										
ARL14	80117	hgsc.bcm.edu	37	chr3	160395483	160395483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacacattaaaaatgtgCctgttgttctattagccaac	6	8	1	1	rs35633732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:160395483C>A	ENST00000320767.2	+	1	536	c.349C>A	c.(349-351)Cct>Act	p.P117T		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	117			P -> T (in dbSNP:rs35633732).		small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TAAAAATGTGCCTGTTGTTCT	0.443													C|||	224	0.0447284	0.1641	0.0086	5008	,	,		21657	0.0		0.001	False		,,,				2504	0.0				p.P117T		Atlas-SNP	.											.	ARL14	16	.	0			c.C349A						PASS	.	C	THR/PRO	635,3771	273.1+/-271.2	46,543,1614	75	69	71		349	5.9	0.8	3	dbSNP_126	71	7,8593	5.0+/-18.6	0,7,4293	yes	missense	ARL14	NM_025047.2	38	46,550,5907	AA,AC,CC		0.0814,14.4122,4.9362	probably-damaging	117/193	160395483	642,12364	2203	4300	6503	SO:0001583	missense	80117	exon1			AATGTGCCTGTTG	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22974	protein-coding gene	gene with protein product		614439	"ADP-ribosylation factor 7"	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.349C>A	3.37:g.160395483C>A	ENSP00000323847:p.Pro117Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_025047	Q9H655	Missense_Mutation	SNP	ENST00000320767.2	37	CCDS3192.1	122	0.055860805860805864	100	0.2032520325203252	5	0.013812154696132596	4	0.006993006993006993	13	0.017150395778364115	C	16.30	3.085550	0.55861	0.144122	8.14E-4	ENSG00000179674	ENST00000320767	T	0.74315	-0.83	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.00496	0.0016	M	0.75150	2.29	0.09310	P	0.99999024684	D	0.89917	1.0	D	0.97110	1.0	T	0.02539	-1.1144	9	0.54805	T	0.06	-21.0946	19.3683	0.94473	0.0:1.0:0.0:0.0	rs35633732;rs35633732	117	Q8N4G2	ARL14_HUMAN	T	117	ENSP00000323847:P117T	ENSP00000323847:P117T	P	+	1	0	ARL14	161878177	0.994000	0.37717	0.842000	0.33263	0.656000	0.38851	3.803000	0.55560	2.822000	0.97130	0.563000	0.77884	CCT	C|0.942;A|0.058	0.058	strong		0.443	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		A	160395483	C	A	160395483	3	1	22	1	0	0	0	0	1	0	0	0	930	739	26	4	351	4	ARL14	3	160395483	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	398422	160395483	37626947	2363	7471										
OTOL1	131149	hgsc.bcm.edu	37	chr3	161221262	161221262	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggggtccgaggccccacTgggaagaagggctctcgggg	18	10	1	1	rs113998122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:161221262T>A	ENST00000327928.4	+	4	966	c.966T>A	c.(964-966)acT>acA	p.T322T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	322	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAGGCCCCACTGGGAAGAAGG	0.572													T|||	50	0.00998403	0.0378	0.0	5008	,	,		13649	0.0		0.0	False		,,,				2504	0.0				p.T322T		Atlas-SNP	.											.	OTOL1	63	.	0			c.T966A						PASS	.	T		116,3608		0,116,1746	30	30	30		966	-7.4	0	3	dbSNP_132	30	2,8184		0,2,4091	no	coding-synonymous	OTOL1	NM_001080440.1		0,118,5837	AA,AT,TT		0.0244,3.1149,0.9908		322/478	161221262	118,11792	1862	4093	5955	SO:0001819	synonymous_variant	131149	exon4			CCCCACTGGGAAG		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.966T>A	3.37:g.161221262T>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	107	60	0.560748	NM_001080440		Silent	SNP	ENST00000327928.4	37	CCDS46948.1																																																																																			T|0.990;A|0.010	0.010	strong		0.572	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		A	161221262	T	A	161221262	2	1	22	1	0	0	0	0	0	0	0	1	11304	1567	55	5		5	OTOL1	3	161221262	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	825779	161221262	36801168	2364	7472										
SI	6476	hgsc.bcm.edu	37	chr3	164750325	164750325	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attacctggttagaagcatcAtaagtgaaattggaatgagc	10	5	1	3	rs140829463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:164750325A>G	ENST00000264382.3	-	24	2783	c.2721T>C	c.(2719-2721)taT>taC	p.Y907Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	907	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAGAAGCATCATAAGTGAAAT	0.313										HNSCC(35;0.089)			A|||	2	0.000399361	0.0015	0.0	5008	,	,		14779	0.0		0.0	False		,,,				2504	0.0				p.Y907Y		Atlas-SNP	.											.	SI	500	.	0			c.T2721C						PASS	.	A		10,4394	16.8+/-37.8	0,10,2192	133	128	130		2721	1.2	0.3	3	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous	SI	NM_001041.3		0,10,6492	GG,GA,AA		0.0,0.2271,0.0769		907/1828	164750325	10,12994	2202	4300	6502	SO:0001819	synonymous_variant	6476	exon24			AGCATCATAAGTG	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2721T>C	3.37:g.164750325A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	57	24	0.421053	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																			A|0.999;G|0.001	0.001	strong		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164750325	A	G	164750325	2	3	22	1	0	0	0	0	0	0	0	1	14297	224	8	2		2	SI	3	164750325	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3529063	164750325	33272105	2365	7473										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167000256	167000256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttggaaagtggaaaatttGctgttgaaggtctctgtgat	13	3	1	2	rs12638625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167000256G>C	ENST00000392766.2	-	19	2247	c.1907C>G	c.(1906-1908)gCa>gGa	p.A636G	ZBBX_ENST00000307529.5_Missense_Mutation_p.A675G|ZBBX_ENST00000455345.2_Missense_Mutation_p.A675G|ZBBX_ENST00000392764.1_Missense_Mutation_p.A607G|ZBBX_ENST00000392767.2_Missense_Mutation_p.A636G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	636			A -> G (in dbSNP:rs12638625). {ECO:0000269|PubMed:14702039}.			intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGGAAAATTTGCTGTTGAAGG	0.338																																					p.A675G		Atlas-SNP	.											.	ZBBX	299	.	0			c.C2024G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA	982,2656		134,714,971	124	120	121		2024,1820,1907	1.5	0.8	3	dbSNP_120	121	2451,5685		353,1745,1970	yes	missense,missense,missense	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	60,60,60	487,2459,2941	CC,CG,GG		30.1254,26.9929,29.1575	benign,benign,benign	675/840,607/772,636/801	167000256	3433,8341	1819	4068	5887	SO:0001583	missense	79740	exon20			AAATTTGCTGTTG	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1907C>G	3.37:g.167000256G>C	ENSP00000376519:p.Ala636Gly	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	171	75	0.438596	NM_001199201	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	861	0.3942307692307692	135	0.27439024390243905	136	0.3756906077348066	370	0.6468531468531469	220	0.29023746701846964	G	6.009	0.370125	0.11352	0.269929	0.301254	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.14391	2.68;2.68;2.53;2.53;2.51	5.28	1.47	0.22746	.	0.759635	0.12007	N	0.508267	T	0.00012	0.0000	L	0.53249	1.67	0.49130	P	2.4400000000002198E-4	B;B	0.28760	0.221;0.141	B;B	0.33295	0.161;0.077	T	0.21724	-1.0237	9	0.40728	T	0.16	-1.7821	4.4295	0.11520	0.2482:0.0:0.5988:0.153	rs12638625;rs52789532;rs12638625	675;636	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	636;636;675;675;607	ENSP00000376519:A636G;ENSP00000376520:A636G;ENSP00000390232:A675G;ENSP00000305065:A675G;ENSP00000376517:A607G	ENSP00000305065:A675G	A	-	2	0	ZBBX	168482950	0.997000	0.39634	0.831000	0.32960	0.003000	0.03518	0.491000	0.22419	-0.014000	0.14175	-0.911000	0.02809	GCA	G|0.622;C|0.378	0.378	strong		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167000256	G	C	167000256	3	2	22	1	0	0	0	0	1	0	0	0	17513	1319	46	4	507	4	ZBBX	3	167000256	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2249931	167000256	31022174	2366	7474										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167051726	167051726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggattaacatcctttatAaactgatgggcaacatccaa	6	9	1	1	rs10936530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167051726A>G	ENST00000392766.2	-	10	916	c.576T>C	c.(574-576)ttT>ttC	p.F192F	ZBBX_ENST00000307529.5_Silent_p.F192F|ZBBX_ENST00000455345.2_Silent_p.F192F|ZBBX_ENST00000392764.1_Silent_p.F163F|ZBBX_ENST00000392767.2_Silent_p.F192F|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	192						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATCCTTTATAAACTGATGGG	0.308													A|||	2306	0.460463	0.4584	0.4395	5008	,	,		14921	0.6637		0.341	False		,,,				2504	0.3916				p.F192F		Atlas-SNP	.											ZBBX_ENST00000455345,NS,carcinoma,-2,2	ZBBX	299	2	0			c.T576C						PASS	.	A	,,	1533,2057		322,889,584	107	94	98		576,489,576	-1.6	0.5	3	dbSNP_120	98	2668,5474		422,1824,1825	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	,,	744,2713,2409	GG,GA,AA		32.7684,42.7019,35.808	,,	192/840,163/772,192/801	167051726	4201,7531	1795	4071	5866	SO:0001819	synonymous_variant	79740	exon10			CTTTATAAACTGA	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.576T>C	3.37:g.167051726A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																			A|0.557;G|0.443	0.443	strong		0.308	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167051726	A	G	167051726	2	3	22	1	0	0	0	0	0	0	0	1	17513	359	13	2		2	ZBBX	3	167051726	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51470	167051726	30970704	2367	7475										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167164187	167164187	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaaaaggtacctgttggAttatgcttcataataaacag	7	6	2	0	rs2272138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167164187A>G	ENST00000476257.1	-	9	1432	c.1134T>C	c.(1132-1134)aaT>aaC	p.N378N	SERPINI2_ENST00000471111.1_Silent_p.N378N|SERPINI2_ENST00000461846.1_Silent_p.N378N|SERPINI2_ENST00000264677.4_Silent_p.N378N			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	378					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TACCTGTTGGATTATGCTTCA	0.348													G|||	1182	0.236022	0.4251	0.2277	5008	,	,		18166	0.2927		0.0924	False		,,,				2504	0.0757				p.N388N		Atlas-SNP	.											.	SERPINI2	85	.	0			c.T1164C						PASS	.	G		1719,2687	647.5+/-398.6	351,1017,835	97	108	104		1134	0.7	1	3	dbSNP_100	104	826,7772	779.4+/-407.7	41,744,3514	no	coding-synonymous	SERPINI2	NM_006217.3		392,1761,4349	GG,GA,AA		9.6069,39.015,19.5709		378/406	167164187	2545,10459	2203	4299	6502	SO:0001819	synonymous_variant	5276	exon9			TGTTGGATTATGC	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1134T>C	3.37:g.167164187A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_001012303		Silent	SNP	ENST00000476257.1	37	CCDS3200.1																																																																																			A|0.775;G|0.225	0.225	strong		0.348	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		G	167164187	A	G	167164187	2	3	22	1	0	0	0	0	0	0	0	1	14119	330	12	2		2	SERPINI2	3	167164187	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	112461	167164187	30858243	2368	7476										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167167126	167167126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgatgttgcagcttcactAccatcttcatttatctcaaa	5	10	4	1	rs61750372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167167126A>G	ENST00000476257.1	-	8	1327	c.1029T>C	c.(1027-1029)ggT>ggC	p.G343G	SERPINI2_ENST00000264677.4_Silent_p.G343G|SERPINI2_ENST00000471111.1_Silent_p.G343G|SERPINI2_ENST00000461846.1_Silent_p.G343G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	343					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAGCTTCACTACCATCTTCAT	0.378													G|||	297	0.0593051	0.2148	0.0144	5008	,	,		15155	0.0		0.002	False		,,,				2504	0.001				p.G353G		Atlas-SNP	.											.	SERPINI2	85	.	0			c.T1059C						PASS	.	G		876,3530	743.2+/-411.4	94,688,1421	129	111	117		1029	-0.8	0.1	3	dbSNP_129	117	21,8579	817.9+/-406.9	0,21,4279	no	coding-synonymous	SERPINI2	NM_006217.3		94,709,5700	GG,GA,AA		0.2442,19.882,6.8968		343/406	167167126	897,12109	2203	4300	6503	SO:0001819	synonymous_variant	5276	exon8			TTCACTACCATCT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1029T>C	3.37:g.167167126A>G		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	219	117	0.534247	NM_001012303		Silent	SNP	ENST00000476257.1	37	CCDS3200.1																																																																																			A|0.931;G|0.069	0.069	strong		0.378	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		G	167167126	A	G	167167126	2	3	22	1	0	0	0	0	0	0	0	1	14119	378	14	2		2	SERPINI2	3	167167126	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2939	167167126	30855304	2369	7477										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167167186	167167186	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaaacatacacttcagaTgaatctggttaaaaaaaaat	7	5	2	2	rs6770577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167167186T>A	ENST00000476257.1	-	8	1267	c.969A>T	c.(967-969)tcA>tcT	p.S323S	SERPINI2_ENST00000471111.1_Silent_p.S323S|SERPINI2_ENST00000461846.1_Silent_p.S323S|SERPINI2_ENST00000264677.4_Silent_p.S323S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	323					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACACTTCAGATGAATCTGGTT	0.294													T|||	1857	0.370807	0.3026	0.3761	5008	,	,		16258	0.3859		0.4095	False		,,,				2504	0.4039				p.S333S		Atlas-SNP	.											.	SERPINI2	85	.	0			c.A999T						PASS	.	T		1372,3034	450.2+/-349.3	218,936,1049	59	55	56		969	-2.9	0.9	3	dbSNP_116	56	3353,5247	492.8+/-373.4	672,2009,1619	no	coding-synonymous	SERPINI2	NM_006217.3		890,2945,2668	AA,AT,TT		38.9884,31.1394,36.3294		323/406	167167186	4725,8281	2203	4300	6503	SO:0001819	synonymous_variant	5276	exon8			TTCAGATGAATCT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.969A>T	3.37:g.167167186T>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	111	50	0.45045	NM_001012303		Silent	SNP	ENST00000476257.1	37	CCDS3200.1																																																																																			T|0.632;A|0.368	0.368	strong		0.294	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		A	167167186	T	A	167167186	2	1	22	1	0	0	0	0	0	0	0	1	14119	1451	51	5		5	SERPINI2	3	167167186	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60	167167186	30855244	2370	7478										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167184878	167184878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacccaggtacttatcatcTctgcacaagcctttgcatct	5	14	3	0	rs9841174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167184878T>C	ENST00000476257.1	-	4	741	c.443A>G	c.(442-444)gAg>gGg	p.E148G	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E148G|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E148G|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E148G|SERPINI2_ENST00000465031.1_5'Flank			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	148			E -> G (in dbSNP:rs9841174).		cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTTATCATCTCTGCACAAGC	0.338													t|||	2066	0.41254	0.3737	0.379	5008	,	,		14394	0.506		0.4006	False		,,,				2504	0.4049				p.E158G		Atlas-SNP	.											.	SERPINI2	85	.	0			c.A473G						PASS	.	C	GLY/GLU	1610,2796	496.5+/-363.6	307,996,900	93	93	93		443	3.3	1	3	dbSNP_119	93	3261,5339	488.2+/-372.3	638,1985,1677	yes	missense	SERPINI2	NM_006217.3	98	945,2981,2577	CC,CT,TT		37.9186,36.5411,37.4519	possibly-damaging	148/406	167184878	4871,8135	2203	4300	6503	SO:0001583	missense	5276	exon4			ATCATCTCTGCAC	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.443A>G	3.37:g.167184878T>C	ENSP00000420621:p.Glu148Gly	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_001012303		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	929	0.42536630036630035	202	0.4105691056910569	144	0.39779005524861877	282	0.493006993006993	301	0.3970976253298153	t	15.95	2.984489	0.53934	0.365411	0.379186	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.7	3.34	0.38264	Serpin domain (3);	0.464061	0.24613	N	0.037024	T	0.00012	0.0000	L	0.42632	1.34	0.43683	P	0.003878999999999966	P	0.40578	0.722	B	0.43990	0.438	T	0.30238	-0.9985	9	0.52906	T	0.07	.	10.0587	0.42261	0.0:0.1354:0.0:0.8646	rs9841174;rs52836184;rs61562449;rs9841174	148	O75830	SPI2_HUMAN	G	148;148;148;148;148;133	ENSP00000420621:E148G;ENSP00000417692:E148G;ENSP00000264677:E148G;ENSP00000419407:E148G;ENSP00000417752:E148G;ENSP00000419255:E133G	ENSP00000264677:E148G	E	-	2	0	SERPINI2	168667572	1.000000	0.71417	0.966000	0.40874	0.567000	0.35839	2.515000	0.45512	0.452000	0.26830	-0.253000	0.11424	GAG	C|0.395;N|0.001	0.395	strong		0.338	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		C	167184878	T	C	167184878	3	2	22	1	0	0	0	0	1	0	0	0	14119	1551	54	3	802	3	SERPINI2	3	167184878	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17692	167184878	30837552	2371	7479										
WDR49	151790	hgsc.bcm.edu	37	chr3	167217960	167217960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttaaaaagtgacggggcCtccagaatttggggacgctc	12	9	0	2	rs13061106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:167217960C>T	ENST00000308378.3	-	14	2261	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.E477E|WDR49_ENST00000453925.2_Silent_p.E617E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	652										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTGACGGGGCCTCCAGAATTT	0.423													C|||	937	0.187101	0.1815	0.2205	5008	,	,		16496	0.3849		0.0915	False		,,,				2504	0.0654				p.E652E		Atlas-SNP	.											.	WDR49	188	.	0			c.G1956A						PASS	.	C		695,3711	285.5+/-278.2	67,561,1575	126	144	138		1956	-0.5	0	3	dbSNP_121	138	775,7825	181.9+/-230.5	36,703,3561	no	coding-synonymous	WDR49	NM_178824.3		103,1264,5136	TT,TC,CC		9.0116,15.7739,11.3025		652/698	167217960	1470,11536	2203	4300	6503	SO:0001819	synonymous_variant	151790	exon14			CGGGGCCTCCAGA	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1956G>A	3.37:g.167217960C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_178824	Q8N297	Silent	SNP	ENST00000308378.3	37	CCDS3201.1	444	0.2032967032967033	96	0.1951219512195122	69	0.19060773480662985	211	0.3688811188811189	68	0.08970976253298153	C	0.006	-2.109061	0.00353	0.157739	0.090116	ENSG00000174776	ENST00000472600	.	.	.	5.13	-0.538	0.11868	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44682	-0.9312	3	.	.	.	.	4.782	0.13206	0.0:0.4402:0.1516:0.4082	rs13061106;rs57499876	.	.	.	K	629	.	.	R	-	2	0	WDR49	168700654	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.058000	0.14301	-0.185000	0.10550	0.467000	0.42956	AGG	C|0.862;T|0.138	0.138	strong		0.423	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167217960	C	T	167217960	2	4	22	1	0	0	0	0	0	0	0	1	17299	680	24	2		2	WDR49	3	167217960	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33082	167217960	30804470	2372	7480										
MECOM	2122	hgsc.bcm.edu	37	chr3	168833976	168833976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcttcagaggacctctCgggctggagctccactggct	11	15	3	1	rs149928659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:168833976C>T	ENST00000464456.1	-	7	2320	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	MECOM_ENST00000472280.1_Missense_Mutation_p.E375K|MECOM_ENST00000433243.2_Missense_Mutation_p.E375K|MECOM_ENST00000460814.1_Missense_Mutation_p.E374K|MECOM_ENST00000494292.1_Missense_Mutation_p.E562K|MECOM_ENST00000392736.3_Missense_Mutation_p.E374K|MECOM_ENST00000468789.1_Missense_Mutation_p.E374K|MECOM_ENST00000264674.3_Missense_Mutation_p.E439K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGACCTCTCGGGCTGGAGC	0.493													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17401	0.0		0.0	False		,,,				2504	0.0				p.E562K		Atlas-SNP	.											.	MECOM	216	.	0			c.G1684A						PASS	.						360	301	321					3																	168833976		2203	4300	6503	SO:0001583	missense	2122	exon8			ACCTCTCGGGCTG	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1120G>A	3.37:g.168833976C>T	ENSP00000419770:p.Glu374Lys	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	187	90	0.481283	NM_004991	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.87	2.365132	0.41902	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.29;3.28;3.25;3.38;3.23;3.28;3.24;3.38	6.03	6.03	0.97812	.	0.000000	0.53938	D	0.000059	T	0.11495	0.0280	L	0.54323	1.7	0.51482	D	0.999928	P;P;P;P;P	0.45569	0.826;0.789;0.861;0.789;0.491	B;B;B;B;B	0.35510	0.204;0.128;0.101;0.182;0.06	T	0.01608	-1.1313	10	0.59425	D	0.04	-16.0383	20.5568	0.99304	0.0:1.0:0.0:0.0	.	562;375;562;439;374	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	439;374;374;375;562;374;374;375	ENSP00000264674:E439K;ENSP00000376493:E374K;ENSP00000419770:E374K;ENSP00000420048:E375K;ENSP00000417899:E562K;ENSP00000419995:E374K;ENSP00000420466:E374K;ENSP00000394302:E375K	ENSP00000264674:E439K	E	-	1	0	MECOM	170316670	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.830000	0.69324	2.861000	0.98227	0.655000	0.94253	GAG	C|0.999;T|0.001	0.001	strong		0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168833976	C	T	168833976	3	4	22	1	0	0	0	0	1	0	0	0	9422	893	31	1	2075	1	MECOM	3	168833976	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1616016	168833976	29188454	2373	7481										
SEC62	7095	hgsc.bcm.edu	37	chr3	169700525	169700525	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagttttttcaccgagcCctaaaagtaatgaaaatgaa	7	7	1	2	rs35176867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:169700525C>G	ENST00000337002.4	+	4	340	c.282C>G	c.(280-282)gcC>gcG	p.A94A	SEC62_ENST00000480708.1_Silent_p.A94A|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	94					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTCACCGAGCCCTAAAAGTAA	0.323													C|||	102	0.0203674	0.0749	0.0043	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.0				p.A94A		Atlas-SNP	.											.	SEC62	27	.	0			c.C282G						PASS	.	C		246,4122	129.0+/-165.8	11,224,1949	63	75	71		282	-2.3	0.9	3	dbSNP_126	71	0,8592		0,0,4296	no	coding-synonymous	SEC62	NM_003262.3		11,224,6245	GG,GC,CC		0.0,5.6319,1.8981		94/400	169700525	246,12714	2184	4296	6480	SO:0001819	synonymous_variant	7095	exon4			CCGAGCCCTAAAA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.282C>G	3.37:g.169700525C>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	195	98	0.502564	NM_003262	D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	CCDS3210.1																																																																																			C|0.983;G|0.017	0.017	strong		0.323	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			G	169700525	C	G	169700525	2	3	22	1	0	0	0	0	0	0	0	1	14004	610	22	4		4	SEC62	3	169700525	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	866549	169700525	28321905	2374	7482										
SLC7A14	57709	hgsc.bcm.edu	37	chr3	170184949	170184949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccggccgtttgccttcGcatctgacatctgttggtaa	10	11	2	1	rs73040363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170184949G>A	ENST00000231706.5	-	8	2525	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	737					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTTTGCCTTCGCATCTGACAT	0.522													G|||	254	0.0507188	0.1853	0.013	5008	,	,		15259	0.0		0.0	False		,,,				2504	0.0				p.A737V		Atlas-SNP	.											.	SLC7A14	110	.	0			c.C2210T						PASS	.	G	VAL/ALA	720,3686	299.3+/-285.7	65,590,1548	127	112	117		2210	3.1	0.6	3	dbSNP_130	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC7A14	NM_020949.2	64	65,591,5847	AA,AG,GG		0.0116,16.3414,5.5436	benign	737/772	170184949	721,12285	2203	4300	6503	SO:0001583	missense	57709	exon8			GCCTTCGCATCTG	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2210C>T	3.37:g.170184949G>A	ENSP00000231706:p.Ala737Val	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	183	91	0.497268	NM_020949	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	91	0.041666666666666664	88	0.17886178861788618	3	0.008287292817679558	0	0.0	0	0.0	G	9.365	1.068998	0.20147	0.163414	1.16E-4	ENSG00000013293	ENST00000231706	D	0.87491	-2.26	5.9	3.12	0.35913	.	0.505258	0.19518	N	0.112357	T	0.00356	0.0011	N	0.08118	0	0.35570	P	0.19459400000000004	B	0.27971	0.196	B	0.21917	0.037	T	0.10613	-1.0622	9	0.32370	T	0.25	.	12.8923	0.58078	0.0:0.2338:0.6445:0.1217	.	737	Q8TBB6	S7A14_HUMAN	V	737	ENSP00000231706:A737V	ENSP00000231706:A737V	A	-	2	0	SLC7A14	171667643	0.250000	0.23951	0.578000	0.28575	0.219000	0.24729	1.457000	0.35212	0.393000	0.25203	-0.932000	0.02703	GCG	G|0.942;A|0.058	0.058	strong		0.522	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170184949	G	A	170184949	3	1	22	1	0	0	0	0	1	0	0	0	14696	1087	38	1	109	1	SLC7A14	3	170184949	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	484424	170184949	27837481	2375	7483										
SLC7A14	57709	hgsc.bcm.edu	37	chr3	170198898	170198898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagcgctgccaggaacccCgacacgatgcaggccaccac	12	16	0	0	rs3732449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170198898C>T	ENST00000231706.5	-	7	1488	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	391			S -> L (in RP68; uncertain pathological significance). {ECO:0000269|PubMed:24670872}.		negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCAGGAACCCCGACACGATGC	0.587													c|||	1690	0.33746	0.5212	0.2608	5008	,	,		18123	0.3849		0.1968	False		,,,				2504	0.2393				p.S391S		Atlas-SNP	.											.	SLC7A14	110	.	0			c.G1173A						PASS	.	T		2131,2275	578.2+/-384.6	503,1125,575	54	47	50		1173	-10.6	0.1	3	dbSNP_107	50	1557,7043	293.4+/-301.3	134,1289,2877	no	coding-synonymous	SLC7A14	NM_020949.2		637,2414,3452	TT,TC,CC		18.1047,48.3659,28.3561		391/772	170198898	3688,9318	2203	4300	6503	SO:0001819	synonymous_variant	57709	exon7			GAACCCCGACACG	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1173G>A	3.37:g.170198898C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	112	111	0.991071	NM_020949	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																			C|0.688;T|0.312	0.312	strong		0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170198898	C	T	170198898	2	4	22	1	0	0	0	0	0	0	0	1	14696	639	23	1		1	SLC7A14	3	170198898	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13949	170198898	27823532	2376	7484										
SLC2A2	6514	hgsc.bcm.edu	37	chr3	170715830	170715830	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggaactttaaaaaatgtGaacagggtaaaggccaggag	12	5	1	1	rs5398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170715830G>A	ENST00000314251.3	-	11	1516	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	SLC2A2_ENST00000382808.4_Silent_p.F360F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	479					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TAAAAAATGTGAACAGGGTAA	0.438													A|||	1866	0.372604	0.6354	0.3084	5008	,	,		17963	0.2411		0.2903	False		,,,				2504	0.2832				p.F479F		Atlas-SNP	.											.	SLC2A2	71	.	0			c.C1437T						PASS	.	A		2589,1817	496.7+/-363.6	767,1055,381	43	47	46		1437	-3.7	0.1	3	dbSNP_52	46	2567,6033	674.3+/-403.1	354,1859,2087	no	coding-synonymous	SLC2A2	NM_000340.1		1121,2914,2468	AA,AG,GG		29.8488,41.2392,39.6432		479/525	170715830	5156,7850	2203	4300	6503	SO:0001819	synonymous_variant	6514	exon11			AAATGTGAACAGG	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1437C>T	3.37:g.170715830G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	139	70	0.503597	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	CCDS3215.1																																																																																			G|0.622;A|0.378	0.378	strong		0.438	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		A	170715830	G	A	170715830	2	1	22	1	0	0	0	0	0	0	0	1	14544	1281	45	2		2	SLC2A2	3	170715830	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	516932	170715830	27306600	2377	7485										
SLC2A2	6514	hgsc.bcm.edu	37	chr3	170724955	170724955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgactaataagaatgccCgtgacgatggccagctgatg	11	10	0	4	rs5404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170724955C>T	ENST00000314251.3	-	5	673	c.594G>A	c.(592-594)acG>acA	p.T198T	SLC2A2_ENST00000382808.4_Silent_p.T79T	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	198					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TAAGAATGCCCGTGACGATGG	0.488													C|||	759	0.151558	0.3086	0.1254	5008	,	,		19830	0.0159		0.1103	False		,,,				2504	0.1401				p.T198T		Atlas-SNP	.											.	SLC2A2	71	.	0			c.G594A	GRCh37	CM052367	SLC2A2	M	rs5404	PASS	.	C		1242,3164	426.6+/-341.2	174,894,1135	104	93	97		594	-11.5	0	3	dbSNP_52	97	874,7726	196.8+/-241.6	42,790,3468	no	coding-synonymous	SLC2A2	NM_000340.1		216,1684,4603	TT,TC,CC		10.1628,28.1888,16.2694		198/525	170724955	2116,10890	2203	4300	6503	SO:0001819	synonymous_variant	6514	exon5			AATGCCCGTGACG	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.594G>A	3.37:g.170724955C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	132	55	0.416667	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	CCDS3215.1																																																																																			C|0.847;T|0.153	0.153	strong		0.488	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		T	170724955	C	T	170724955	2	4	22	1	0	0	0	0	0	0	0	1	14544	639	23	1		1	SLC2A2	3	170724955	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9125	170724955	27297475	2378	7486										
SLC2A2	6514	hgsc.bcm.edu	37	chr3	170732300	170732300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaccaaagaatgatgcaGtcattccaccaactgcaaag	6	13	1	2	rs5400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170732300G>A	ENST00000314251.3	-	3	408	c.329C>T	c.(328-330)aCt>aTt	p.T110I	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	110			T -> I (in dbSNP:rs5400). {ECO:0000269|PubMed:7593414, ECO:0000269|PubMed:8063045}.		carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GAATGATGCAGTCATTCCACC	0.448													A|||	1078	0.215256	0.4894	0.1715	5008	,	,		18629	0.0159		0.1352	False		,,,				2504	0.1636				p.T110I		Atlas-SNP	.											.	SLC2A2	71	.	0			c.C329T	GRCh37	CM941277	SLC2A2	M	rs5400	PASS	.	A	ILE/THR	1970,2436	620.0+/-393.5	446,1078,679	175	160	165		329	6.1	1	3	dbSNP_52	165	1147,7453	766.6+/-407.6	71,1005,3224	yes	missense	SLC2A2	NM_000340.1	89	517,2083,3903	AA,AG,GG		13.3372,44.7118,23.9659	benign	110/525	170732300	3117,9889	2203	4300	6503	SO:0001583	missense	6514	exon3			GATGCAGTCATTC	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.329C>T	3.37:g.170732300G>A	ENSP00000323568:p.Thr110Ile	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	149	75	0.503356	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	411	0.18818681318681318	228	0.4634146341463415	70	0.19337016574585636	9	0.015734265734265736	104	0.13720316622691292	A	8.575	0.880856	0.17467	0.447118	0.133372	ENSG00000163581	ENST00000314251	T	0.70399	-0.48	6.08	6.08	0.98989	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399027	0.29218	N	0.012794	T	0.00012	0.0000	N	0.00016	-2.86	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	12.1128	0.53848	0.9328:0.0:0.0672:0.0	rs5400;rs52828515;rs61638260;rs5400	110	P11168	GTR2_HUMAN	I	110	ENSP00000323568:T110I	ENSP00000323568:T110I	T	-	2	0	SLC2A2	172214994	0.955000	0.32602	0.981000	0.43875	0.991000	0.79684	7.036000	0.76524	1.126000	0.42016	-0.254000	0.11334	ACT	G|0.776;A|0.224	0.224	strong		0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		A	170732300	G	A	170732300	3	1	22	1	0	0	0	0	1	0	0	0	14544	1029	36	2	1281	2	SLC2A2	3	170732300	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7345	170732300	27290130	2379	7487										
TNIK	23043	hgsc.bcm.edu	37	chr3	170824990	170824990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcatctatagcttttttGtagctctgaaatgagaggaa	8	7	3	2	rs904617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:170824990G>A	ENST00000436636.2	-	21	2732	c.2388C>T	c.(2386-2388)taC>taT	p.Y796Y	MIR569_ENST00000385228.1_RNA|TNIK_ENST00000341852.6_Silent_p.Y712Y|TNIK_ENST00000488470.1_Silent_p.Y741Y|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000284483.8_Intron|TNIK_ENST00000357327.5_Silent_p.Y767Y|TNIK_ENST00000470834.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	796	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAGCTTTTTTGTAGCTCTGAA	0.353													A|||	443	0.0884585	0.2859	0.0231	5008	,	,		20309	0.0109		0.001	False		,,,				2504	0.0378				p.Y796Y		Atlas-SNP	.											.	TNIK	313	.	0			c.C2388T						PASS	.	A	,,,,,,,	877,2825		104,669,1078	58	54	55		,2301,,2223,,2136,,2388	4.7	1	3	dbSNP_86	55	20,8188		0,20,4084	no	intron,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	,,,,,,,	104,689,5162	AA,AG,GG		0.2437,23.6899,7.5315	,,,,,,,	,767/1332,,741/1306,,712/1277,,796/1361	170824990	897,11013	1851	4104	5955	SO:0001819	synonymous_variant	23043	exon21			TTTTTTGTAGCTC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2388C>T	3.37:g.170824990G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_015028	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																			G|0.926;A|0.074	0.074	strong		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170824990	G	A	170824990	2	1	22	1	0	0	0	0	0	0	0	1	16310	1372	48	2		2	TNIK	3	170824990	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	92690	170824990	27197440	2380	7488										
PLD1	5337	hgsc.bcm.edu	37	chr3	171320907	171320907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcactatggcctctttggtCccaacagaaggcagtaggct	12	11	1	1	rs6766336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:171320907C>T	ENST00000351298.4	-	27	3312	c.3186G>A	c.(3184-3186)ggG>ggA	p.G1062G	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Silent_p.G1024G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1062					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCTCTTTGGTCCCAACAGAAG	0.473													T|||	243	0.0485224	0.1657	0.0202	5008	,	,		19816	0.0		0.007	False		,,,				2504	0.0031				p.G1062G	NSCLC(149;2174 3517 34058)	Atlas-SNP	.											.	PLD1	134	.	0			c.G3186A						PASS	.	T	,	651,3755	765.8+/-413.4	44,563,1596	94	94	94		3072,3186	3.7	1	3	dbSNP_116	94	116,8484	814.2+/-407.0	1,114,4185	no	coding-synonymous,coding-synonymous	PLD1	NM_001130081.2,NM_002662.4	,	45,677,5781	TT,TC,CC		1.3488,14.7753,5.8973	,	1024/1037,1062/1075	171320907	767,12239	2203	4300	6503	SO:0001819	synonymous_variant	5337	exon27			TTTGGTCCCAACA	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3186G>A	3.37:g.171320907C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_002662		Silent	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																			C|0.942;T|0.058	0.058	strong		0.473	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		T	171320907	C	T	171320907	2	4	22	1	0	0	0	0	0	0	0	1	12045	842	30	2		2	PLD1	3	171320907	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	495917	171320907	26701523	2381	7489										
PLD1	5337	hgsc.bcm.edu	37	chr3	171338237	171338237	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacatagataagctcagtTactaggtttccttcgagctc	9	9	1	1	rs9881788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:171338237T>G	ENST00000351298.4	-	24	2793	c.2667A>C	c.(2665-2667)gtA>gtC	p.V889V	PLD1_ENST00000340989.4_Silent_p.V889V|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Silent_p.V851V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	889	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAGCTCAGTTACTAGGTTTC	0.328													G|||	2370	0.473243	0.7352	0.4669	5008	,	,		16128	0.3562		0.3946	False		,,,				2504	0.3252				p.V889V	NSCLC(149;2174 3517 34058)	Atlas-SNP	.											.	PLD1	134	.	0			c.A2667C						PASS	.	G	,	2954,1452	469.4+/-355.4	971,1012,220	131	126	128		2553,2667	4.6	1	3	dbSNP_119	128	3668,4932	622.9+/-397.4	794,2080,1426	no	coding-synonymous,coding-synonymous	PLD1	NM_001130081.2,NM_002662.4	,	1765,3092,1646	GG,GT,TT		42.6512,32.9551,49.085	,	851/1037,889/1075	171338237	6622,6384	2203	4300	6503	SO:0001819	synonymous_variant	5337	exon24			CTCAGTTACTAGG	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2667A>C	3.37:g.171338237T>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_002662		Silent	SNP	ENST00000351298.4	37	CCDS3216.1	1034	0.4734432234432234	385	0.782520325203252	154	0.425414364640884	190	0.3321678321678322	305	0.4023746701846966	G	1.092	-0.663792	0.03428	0.670449	0.426512	ENSG00000075651	ENST00000446289	.	.	.	5.5	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6543	10.9251	0.47187	0.0672:0.0:0.8027:0.1301	rs9881788;rs58557066;rs9881788	.	.	.	S	152	.	.	X	-	2	2	PLD1	172820931	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	4.606000	0.61126	0.704000	0.31869	-1.392000	0.01152	TAA	T|0.504;G|0.496	0.496	strong		0.328	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		G	171338237	T	G	171338237	2	3	22	1	0	0	0	0	0	0	0	1	12045	1741	61	5		5	PLD1	3	171338237	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17330	171338237	26684193	2382	7490										
PLD1	5337	hgsc.bcm.edu	37	chr3	171395468	171395468	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacacctgtctgtaaactAcggatggacccggtatctgt	9	13	2	0	rs2124147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:171395468A>G	ENST00000351298.4	-	17	2010	c.1884T>C	c.(1882-1884)cgT>cgC	p.R628R	PLD1_ENST00000356327.5_Silent_p.R590R|PLD1_ENST00000342215.6_Missense_Mutation_p.V519A|PLD1_ENST00000340989.4_Silent_p.R628R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	628	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTGTAAACTACGGATGGACC	0.488													G|||	2327	0.464657	0.7269	0.4597	5008	,	,		17426	0.3234		0.3926	False		,,,				2504	0.3333				p.R628R	NSCLC(149;2174 3517 34058)	Atlas-SNP	.											.	PLD1	134	.	0			c.T1884C						PASS	.	G	,	2940,1466	472.4+/-356.4	961,1018,224	121	114	117		1770,1884	0.5	1	3	dbSNP_96	117	3690,4910	621.3+/-397.2	798,2094,1408	no	coding-synonymous,coding-synonymous	PLD1	NM_001130081.2,NM_002662.4	,	1759,3112,1632	GG,GA,AA		42.907,33.2728,49.0235	,	590/1037,628/1075	171395468	6630,6376	2203	4300	6503	SO:0001819	synonymous_variant	5337	exon17			TAAACTACGGATG	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1884T>C	3.37:g.171395468A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	152	151	0.993421	NM_002662		Silent	SNP	ENST00000351298.4	37	CCDS3216.1	1006	0.4606227106227106	383	0.7784552845528455	152	0.4198895027624309	169	0.29545454545454547	302	0.39841688654353563	G	9.936	1.216235	0.22373	0.667272	0.42907	ENSG00000075651	ENST00000342215	T	0.30448	1.53	6.05	0.511	0.16989	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.47276	P	6.220000000000114E-4	.	.	.	.	.	.	T	0.37009	-0.9724	5	0.06099	T	0.92	-10.5471	3.7192	0.08449	0.222:0.0868:0.5051:0.1861	rs2124147;rs52831340;rs60164524;rs2124147	.	.	.	A	519	ENSP00000339936:V519A	ENSP00000339936:V519A	V	-	2	0	PLD1	172878162	1.000000	0.71417	0.965000	0.40720	0.826000	0.46750	0.739000	0.26173	-0.056000	0.13221	-0.755000	0.03482	GTA	A|0.510;G|0.490	0.490	strong		0.488	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		G	171395468	A	G	171395468	2	3	22	1	0	0	0	0	0	0	0	1	12045	378	14	2		2	PLD1	3	171395468	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	57231	171395468	26626962	2383	7491										
FNDC3B	64778	hgsc.bcm.edu	37	chr3	171969077	171969077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accattttatggaatgtcaaCctacatcacccgagaagacc	6	12	2	2	rs7652177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:171969077C>G	ENST00000336824.4	+	6	635	c.536C>G	c.(535-537)aCc>aGc	p.T179S	FNDC3B_ENST00000416957.1_Missense_Mutation_p.T179S|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T179S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	179			T -> S (in dbSNP:rs7652177). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15564382, ECO:0000269|Ref.5}.		cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T179S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGAATGTCAACCTACATCACC	0.388													G|||	3229	0.644768	0.9228	0.5634	5008	,	,		16403	0.5536		0.5169	False		,,,				2504	0.5521				p.T179S		Atlas-SNP	.											FNDC3B,NS,carcinoma,0,1	FNDC3B	118	1	1	Substitution - Missense(1)	stomach(1)	c.C536G						PASS	.	G	SER/THR,SER/THR	3758,648	277.2+/-273.6	1605,548,50	49	53	51		536,536	6	1	3	dbSNP_116	51	4236,4364	581.3+/-391.2	1028,2180,1092	yes	missense,missense	FNDC3B	NM_001135095.1,NM_022763.3	58,58	2633,2728,1142	GG,GC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	49.2558,14.7072,38.5361	benign,benign	179/1205,179/1205	171969077	7994,5012	2203	4300	6503	SO:0001583	missense	64778	exon6			TGTCAACCTACAT	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.536C>G	3.37:g.171969077C>G	ENSP00000338523:p.Thr179Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	107	104	0.971963	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	1336	0.6117216117216118	449	0.9126016260162602	209	0.5773480662983426	289	0.5052447552447552	389	0.5131926121372031	G	9.197	1.027387	0.19512	0.852928	0.492558	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.98	5.98	0.97165	.	0.114990	0.85682	N	0.000000	T	0.00012	0.0000	N	0.02539	-0.55	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	9	0.07325	T	0.83	-17.7311	17.4819	0.87674	0.0:0.1242:0.8758:0.0	rs7652177;rs17281567;rs52833274;rs60495250;rs7652177	179;179	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	S	179;179;179;152	ENSP00000411242:T179S;ENSP00000338523:T179S;ENSP00000389094:T179S;ENSP00000389064:T152S	ENSP00000338523:T179S	T	+	2	0	FNDC3B	173451771	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	4.977000	0.63792	1.554000	0.49487	-0.187000	0.12897	ACC	C|0.384;G|0.616	0.616	strong		0.388	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		G	171969077	C	G	171969077	3	3	22	1	0	0	0	0	1	0	0	0	5970	507	18	4	554	4	FNDC3B	3	171969077	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	573609	171969077	26053353	2384	7492										
FNDC3B	64778	hgsc.bcm.edu	37	chr3	171969312	171969312	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagaagcagcccaaagtcGaatgattcagacttgcaagg	11	9	1	3	rs34553291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:171969312G>C	ENST00000336824.4	+	6	870	c.771G>C	c.(769-771)tcG>tcC	p.S257S	FNDC3B_ENST00000416957.1_Silent_p.S257S|FNDC3B_ENST00000415807.2_Silent_p.S257S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	257					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCCAAAGTCGAATGATTCAG	0.468													G|||	28	0.00559105	0.0212	0.0	5008	,	,		17937	0.0		0.0	False		,,,				2504	0.0				p.S257S		Atlas-SNP	.											FNDC3B,rectum,carcinoma,+1,1	FNDC3B	118	1	0			c.G771C						PASS	.	G	,	92,4314	75.7+/-113.9	0,92,2111	69	71	70		771,771	-7.6	0.1	3	dbSNP_126	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FNDC3B	NM_001135095.1,NM_022763.3	,	0,92,6411	CC,CG,GG		0.0,2.0881,0.7074	,	257/1205,257/1205	171969312	92,12914	2203	4300	6503	SO:0001819	synonymous_variant	64778	exon6			AAAGTCGAATGAT	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.771G>C	3.37:g.171969312G>C		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	39	17	0.435897	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																			G|0.993;C|0.007	0.007	strong		0.468	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		C	171969312	G	C	171969312	2	2	22	1	0	0	0	0	0	0	0	1	5970	1045	37	4		4	FNDC3B	3	171969312	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	235	171969312	26053118	2385	7493										
GHSR	2693	hgsc.bcm.edu	37	chr3	172165757	172165757	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaccaccaccttggcccgGagtgggaagcagatggcgaa	15	11	0	2	rs2232169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172165757G>C	ENST00000241256.2	-	1	489	c.447C>G	c.(445-447)ctC>ctG	p.L149L	GHSR_ENST00000427970.1_Silent_p.L149L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	149					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTTGGCCCGGAGTGGGAAGC	0.622													C|||	158	0.0315495	0.0658	0.0231	5008	,	,		19788	0.0		0.0278	False		,,,				2504	0.0276				p.L149L	Esophageal Squamous(93;641 1401 20883 29581 34638)	Atlas-SNP	.											GHSR_ENST00000427970,NS,carcinoma,-2,1	GHSR	104	1	0			c.C447G						PASS	.	C	,	301,4105	793.5+/-415.2	7,287,1909	56	55	55		447,447	4.7	1	3	dbSNP_98	55	252,8348	806.8+/-407.2	5,242,4053	no	coding-synonymous,coding-synonymous	GHSR	NM_004122.2,NM_198407.2	,	12,529,5962	CC,CG,GG		2.9302,6.8316,4.2519	,	149/290,149/367	172165757	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	2693	exon1			GGCCCGGAGTGGG	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.447C>G	3.37:g.172165757G>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	113	47	0.415929	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																			G|0.963;C|0.037	0.037	strong		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		C	172165757	G	C	172165757	2	2	22	1	0	0	0	0	0	0	0	1	6375	1161	41	4		4	GHSR	3	172165757	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	196445	172165757	25856673	2386	7494										
TNFSF10	8743	hgsc.bcm.edu	37	chr3	172224303	172224303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccaactaaaaaggccccAaaaaaactggcttcatggtc	7	11	1	0	rs1131532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172224303A>G	ENST00000241261.2	-	5	947	c.825T>C	c.(823-825)ttT>ttC	p.F275F	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	275					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAAAGGCCCCAAAAAAACTGG	0.358													G|||	3344	0.667732	0.77	0.5576	5008	,	,		19172	0.619		0.6909	False		,,,				2504	0.6339				p.F275F		Atlas-SNP	.											.	TNFSF10	30	.	0			c.T825C						PASS	.	G	,	3455,951	360.1+/-315.1	1348,759,96	57	56	56		,825	-7.3	0.4	3	dbSNP_86	56	5811,2789	433.6+/-357.5	1946,1919,435	no	utr-3,coding-synonymous	TNFSF10	NM_001190942.1,NM_003810.3	,	3294,2678,531	GG,GA,AA		32.4302,21.5842,28.756	,	,275/282	172224303	9266,3740	2203	4300	6503	SO:0001819	synonymous_variant	8743	exon5			GGCCCCAAAAAAA	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.825T>C	3.37:g.172224303A>G		Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	269	269	1	NM_003810	A1Y9B3	Silent	SNP	ENST00000241261.2	37	CCDS3219.1																																																																																			G|0.691;C|0.000;A|0.309	0.691	strong		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			G	172224303	A	G	172224303	2	3	22	1	0	0	0	0	0	0	0	1	16298	127	5	2		2	TNFSF10	3	172224303	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	58546	172224303	25798127	2387	7495										
NCEH1	57552	hgsc.bcm.edu	37	chr3	172365832	172365832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagaccacgcgcttttttTgccaaaagaaacaatgataa	7	8	0	4	rs2302815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172365832T>G	ENST00000475381.1	-	2	444	c.211A>C	c.(211-213)Aaa>Caa	p.K71Q	NCEH1_ENST00000273512.3_Missense_Mutation_p.K103Q|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.K103Q			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	71			K -> Q (in dbSNP:rs2302815).		lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GCGCTTTTTTTGCCAAAAGAA	0.512													T|||	681	0.135982	0.2345	0.1167	5008	,	,		19776	0.0833		0.1054	False		,,,				2504	0.1022				p.K103Q		Atlas-SNP	.											NCEH1,NS,adenoma,0,1	NCEH1	63	1	0			c.A307C						PASS	.	T	,,GLN/LYS,GLN/LYS	926,3480	351.6+/-311.3	110,706,1387	76	76	76		,,307,307	4.8	1	3	dbSNP_100	76	806,7794	186.2+/-233.7	48,710,3542	yes	utr-5,intron,missense,missense	NCEH1	NM_001146277.1,NM_001146278.1,NM_020792.4,NM_001146276.1	,,53,53	158,1416,4929	GG,GT,TT		9.3721,21.0168,13.3169	,,benign,benign	,,103/441,103/449	172365832	1732,11274	2203	4300	6503	SO:0001583	missense	57552	exon2			TTTTTTTGCCAAA	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.211A>C	3.37:g.172365832T>G	ENSP00000418571:p.Lys71Gln	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	132	80	0.606061	NM_020792	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		275	0.1259157509157509	97	0.19715447154471544	37	0.10220994475138122	60	0.1048951048951049	81	0.10686015831134564	T	10.66	1.413799	0.25465	0.210168	0.093721	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512	T;T;T	0.04454	3.64;3.62;3.62	5.96	4.78	0.61160	.	0.672964	0.16446	N	0.214069	T	0.00012	0.0000	L	0.51422	1.61	0.09310	P	0.999999999938841	B;B	0.26081	0.141;0.017	B;B	0.20577	0.03;0.005	T	0.44862	-0.9300	9	0.25106	T	0.35	-14.7722	12.521	0.56058	0.0:0.0:0.397:0.603	rs2302815;rs59554414;rs2302815	103;71	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	Q	71;103;103	ENSP00000418571:K71Q;ENSP00000442464:K103Q;ENSP00000273512:K103Q	ENSP00000273512:K103Q	K	-	1	0	NCEH1	173848526	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.082000	0.41605	1.039000	0.40074	0.533000	0.62120	AAA	T|0.868;G|0.132	0.132	strong		0.512	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		G	172365832	T	G	172365832	3	3	22	1	0	0	0	0	1	0	0	0	10215	1821	63	5	1055	5	NCEH1	3	172365832	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	141529	172365832	25656598	2388	7496										
ECT2	1894	hgsc.bcm.edu	37	chr3	172480580	172480580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaccttcaaagaaactttAtgttgtcaagcaagaggcaa	8	7	2	3	rs138074177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172480580A>G	ENST00000392692.3	+	10	1165	c.989A>G	c.(988-990)tAt>tGt	p.Y330C	ECT2_ENST00000417960.1_Missense_Mutation_p.Y298C|ECT2_ENST00000540509.1_Missense_Mutation_p.Y330C|ECT2_ENST00000441497.2_Missense_Mutation_p.Y299C|ECT2_ENST00000427830.1_Missense_Mutation_p.Y299C|ECT2_ENST00000232458.5_Missense_Mutation_p.Y299C	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	330	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGAAACTTTATGTTGTCAAG	0.313													A|||	2	0.000399361	0.0008	0.0	5008	,	,		17827	0.0		0.001	False		,,,				2504	0.0				p.Y330C		Atlas-SNP	.											.	ECT2	79	.	0			c.A989G						PASS	.	A	CYS/TYR	3,4403	6.2+/-15.9	0,3,2200	89	90	90		896	4.7	1	3	dbSNP_134	90	2,8596	2.2+/-6.3	0,2,4297	yes	missense	ECT2	NM_018098.4	194	0,5,6497	GG,GA,AA		0.0233,0.0681,0.0384	probably-damaging	299/884	172480580	5,12999	2203	4299	6502	SO:0001583	missense	1894	exon10			AACTTTATGTTGT	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.989A>G	3.37:g.172480580A>G	ENSP00000376457:p.Tyr330Cys	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	144	74	0.513889	NM_001258315	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	A|A	16.30|16.30	3.083153|3.083153	0.55861|0.55861	6.81E-4|6.81E-4	2.33E-4|2.33E-4	ENSG00000114346|ENSG00000114346	ENST00000444250|ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	.|T;T;T;T;T;T	.|0.79141	.|-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.84|5.84	4.65|4.65	0.58169|0.58169	.|.	.|0.105654	.|0.64402	.|D	.|0.000003	D|D	0.85106|0.85106	0.5621|0.5621	M|M	0.73598|0.73598	2.24|2.24	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;P	.|0.58620	.|0.783;0.983;0.941;0.929	.|B;P;P;P	.|0.61003	.|0.325;0.882;0.753;0.525	D|D	0.85632|0.85632	0.1271|0.1271	5|10	.|0.62326	.|D	.|0.03	-13.9317|-13.9317	11.9979|11.9979	0.53214|0.53214	0.8666:0.0:0.0:0.1334|0.8666:0.0:0.0:0.1334	.|.	.|330;330;299;298	.|Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	.|ECT2_HUMAN;.;.;.	V|C	2|299;330;299;298;299;330	.|ENSP00000232458:Y299C;ENSP00000376457:Y330C;ENSP00000401910:Y299C;ENSP00000415876:Y298C;ENSP00000412259:Y299C;ENSP00000443160:Y330C	.|ENSP00000232458:Y299C	M|Y	+|+	1|2	0|0	ECT2|ECT2	173963274|173963274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.323000|4.323000	0.59221|0.59221	0.990000|0.990000	0.38787|0.38787	0.482000|0.482000	0.46254|0.46254	ATG|TAT	A|0.999;G|0.001	0.001	strong		0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		G	172480580	A	G	172480580	3	3	22	1	0	0	0	0	1	0	0	0	4901	449	16	2	926	2	ECT2	3	172480580	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	114748	172480580	25541850	2389	7497										
SPATA16	83893	hgsc.bcm.edu	37	chr3	172766822	172766822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctcaatgaaacttgccacGcttgctatatcttcagcagg	8	11	3	1	rs508508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172766822G>A	ENST00000351008.3	-	3	858	c.675C>T	c.(673-675)agC>agT	p.S225S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	225					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTTGCCACGCTTGCTATAT	0.383													G|||	859	0.171526	0.2231	0.1801	5008	,	,		17129	0.1379		0.1511	False		,,,				2504	0.1513				p.S225S		Atlas-SNP	.											SPATA16,NS,haematopoietic_neoplasm,-1,2	SPATA16	111	2	0			c.C675T						PASS	.	G		1031,3375	380.2+/-323.6	131,769,1303	104	92	96		675	-2.7	1	3	dbSNP_83	96	1243,7357	249.3+/-276.6	92,1059,3149	no	coding-synonymous	SPATA16	NM_031955.5		223,1828,4452	AA,AG,GG		14.4535,23.3999,17.4842		225/570	172766822	2274,10732	2203	4300	6503	SO:0001819	synonymous_variant	83893	exon3			TGCCACGCTTGCT	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.675C>T	3.37:g.172766822G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	119	70	0.588235	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	CCDS3221.1																																																																																			G|0.824;A|0.176	0.176	strong		0.383	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172766822	G	A	172766822	2	1	22	1	0	0	0	0	0	0	0	1	15000	1078	38	1		1	SPATA16	3	172766822	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	286242	172766822	25255608	2390	7498										
SPATA16	83893	hgsc.bcm.edu	37	chr3	172835125	172835125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactcatagcgaacacccaTttcatcaatgtagaccaact	4	12	3	1	rs1515442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172835125T>C	ENST00000351008.3	-	2	580	c.397A>G	c.(397-399)Atg>Gtg	p.M133V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	133			M -> V (in dbSNP:rs1515442). {ECO:0000269|PubMed:17665087}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CGAACACCCATTTCATCAATG	0.413													C|||	2146	0.428514	0.7247	0.3055	5008	,	,		22397	0.374		0.2465	False		,,,				2504	0.3589				p.M133V		Atlas-SNP	.											SPATA16,NS,carcinoma,+2,1	SPATA16	111	1	0			c.A397G						PASS	.	C	VAL/MET	2875,1531	484.4+/-360.0	951,973,279	291	266	274		397	5.7	1	3	dbSNP_88	274	2381,6219	701.5+/-405.2	336,1709,2255	yes	missense	SPATA16	NM_031955.5	21	1287,2682,2534	CC,CT,TT		27.686,34.7481,40.4121	benign	133/570	172835125	5256,7750	2203	4300	6503	SO:0001583	missense	83893	exon2			CACCCATTTCATC	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.397A>G	3.37:g.172835125T>C	ENSP00000341765:p.Met133Val	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	261	137	0.524904	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	866	0.3965201465201465	336	0.6829268292682927	108	0.2983425414364641	233	0.40734265734265734	189	0.24934036939313983	C	4.300	0.054895	0.08291	0.652519	0.27686	ENSG00000144962	ENST00000351008	T	0.13901	2.55	5.67	5.67	0.87782	.	0.221006	0.31335	N	0.007839	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.37606	T	0.19	-8.0923	9.6819	0.40076	0.0:0.7837:0.1403:0.0761	rs1515442;rs52810826;rs57404795;rs1515442	133	Q9BXB7	SPT16_HUMAN	V	133	ENSP00000341765:M133V	ENSP00000341765:M133V	M	-	1	0	SPATA16	174317819	1.000000	0.71417	0.970000	0.41538	0.167000	0.22549	1.498000	0.35660	1.405000	0.46838	-0.227000	0.12334	ATG	T|0.604;C|0.396	0.396	strong		0.413	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		C	172835125	T	C	172835125	3	2	22	1	0	0	0	0	1	0	0	0	15000	1493	52	2	1352	2	SPATA16	3	172835125	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68303	172835125	25187305	2391	7499										
SPATA16	83893	hgsc.bcm.edu	37	chr3	172835290	172835290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtttaaaggctgctttctCtaaatcattgctttgttttt	6	8	2	0	rs1515441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:172835290C>T	ENST00000351008.3	-	2	415	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	78			E -> K (in dbSNP:rs1515441). {ECO:0000269|PubMed:17665087}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCTGCTTTCTCTAAATCATTG	0.368													c|||	855	0.170727	0.0968	0.183	5008	,	,		22524	0.3095		0.0994	False		,,,				2504	0.1922				p.E78K		Atlas-SNP	.											SPATA16,NS,carcinoma,+2,1	SPATA16	111	1	0			c.G232A						PASS	.	G	LYS/GLU	454,3952	218.1+/-236.3	19,416,1768	375	351	359		232	4.4	1	3	dbSNP_88	359	1054,7546	223.1+/-260.0	66,922,3312	yes	missense	SPATA16	NM_031955.5	56	85,1338,5080	TT,TC,CC		12.2558,10.3041,11.5946	benign	78/570	172835290	1508,11498	2203	4300	6503	SO:0001583	missense	83893	exon2			CTTTCTCTAAATC	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.232G>A	3.37:g.172835290C>T	ENSP00000341765:p.Glu78Lys	Somatic	278	1	0.00359712		WXS	Illumina HiSeq	Phase_I	339	168	0.495575	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	366	0.16758241758241757	42	0.08536585365853659	57	0.1574585635359116	198	0.34615384615384615	69	0.09102902374670185	c	15.01	2.705345	0.48412	0.103041	0.122558	ENSG00000144962	ENST00000351008	T	0.18657	2.2	5.27	4.4	0.53042	.	0.357463	0.23908	N	0.043374	T	0.00012	0.0000	N	0.24115	0.695	0.42855	P	0.005901999999999963	P	0.38504	0.634	B	0.33620	0.167	T	0.47611	-0.9104	9	0.52906	T	0.07	-12.1553	14.1264	0.65222	0.0:0.8498:0.1502:0.0	rs1515441;rs52836878;rs61569686;rs1515441	78	Q9BXB7	SPT16_HUMAN	K	78	ENSP00000341765:E78K	ENSP00000341765:E78K	E	-	1	0	SPATA16	174317984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.559000	0.36320	1.227000	0.43598	-0.127000	0.14921	GAG	C|0.831;T|0.169	0.169	strong		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		T	172835290	C	T	172835290	3	4	22	1	0	0	0	0	1	0	0	0	15000	922	32	2	1517	2	SPATA16	3	172835290	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	165	172835290	25187140	2392	7500										
KCNMB2	10242	hgsc.bcm.edu	37	chr3	178546026	178546026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatcacggaaacatttaaTtgctccttcagctgtggtcc	7	12	2	0	rs9831934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:178546026T>C	ENST00000432997.1	+	4	640	c.288T>C	c.(286-288)aaT>aaC	p.N96N	KCNMB2_ENST00000358316.3_Silent_p.N96N|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.N96N|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.N96N	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	108					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	AAACATTTAATTGCTCCTTCA	0.522													T|||	2919	0.582867	0.9289	0.5245	5008	,	,		20296	0.2252		0.5825	False		,,,				2504	0.5256				p.N96N		Atlas-SNP	.											.	KCNMB2	35	.	0			c.T288C						PASS	.	T	,	3833,573	773.0+/-413.9	1669,495,39	140	117	125		288,288	-4.7	1	3	dbSNP_119	125	5039,3561	629.7+/-398.3	1511,2017,772	no	coding-synonymous,coding-synonymous	KCNMB2	NM_005832.3,NM_181361.1	,	3180,2512,811	CC,CT,TT		41.407,13.005,31.7853	,	96/236,96/236	178546026	8872,4134	2203	4300	6503	SO:0001819	synonymous_variant	10242	exon5			ATTTAATTGCTCC	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.288T>C	3.37:g.178546026T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	161	161	1	NM_005832	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	CCDS3223.1																																																																																			T|0.360;C|0.640	0.640	strong		0.522	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		C	178546026	T	C	178546026	2	2	22	1	0	0	0	0	0	0	0	1	8075	1490	52	2		2	KCNMB2	3	178546026	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5710736	178546026	19476404	2393	7501										
KCNMB2	10242	hgsc.bcm.edu	37	chr3	178560581	178560581	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaagagtgttatcctaacAaaactctacagttccaacgt	6	10	1	2	rs6443583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:178560581A>C	ENST00000432997.1	+	5	916	c.564A>C	c.(562-564)acA>acC	p.T188T	KCNMB2_ENST00000358316.3_Silent_p.T188T|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.T188T|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.T188T	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	202					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	TTATCCTAACAAAACTCTACA	0.458													C|||	2907	0.580471	0.9266	0.5259	5008	,	,		18160	0.2212		0.5795	False		,,,				2504	0.5225				p.T188T		Atlas-SNP	.											.	KCNMB2	35	.	0			c.A564C						PASS	.	C	,	3828,578	257.0+/-261.6	1664,500,39	103	96	99		564,564	2.3	1	3	dbSNP_116	99	5019,3581	518.1+/-379.2	1497,2025,778	no	coding-synonymous,coding-synonymous	KCNMB2	NM_005832.3,NM_181361.1	,	3161,2525,817	CC,CA,AA		41.6395,13.1185,31.9775	,	188/236,188/236	178560581	8847,4159	2203	4300	6503	SO:0001819	synonymous_variant	10242	exon6			CCTAACAAAACTC	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.564A>C	3.37:g.178560581A>C		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_005832	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	CCDS3223.1																																																																																			A|0.352;C|0.648	0.648	strong		0.458	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		C	178560581	A	C	178560581	2	2	22	1	0	0	0	0	0	0	0	1	8075	117	5	5		5	KCNMB2	3	178560581	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14555	178560581	19461849	2394	7502										
MRPL47	57129	hgsc.bcm.edu	37	chr3	179306775	179306775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgcgggctcgtttctcaCgttccagtctagaataaaaa	9	9	2	2	rs10513762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:179306775C>T	ENST00000476781.1	-	7	667	c.638G>A	c.(637-639)cGt>cAt	p.R213H	MRPL47_ENST00000392659.2_Missense_Mutation_p.R103H|MRPL47_ENST00000259038.2_Missense_Mutation_p.R193H	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	213			R -> H (in dbSNP:rs10513762).		translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.R213H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCGTTTCTCACGTTCCAGTCT	0.318													C|||	600	0.119808	0.1051	0.147	5008	,	,		17645	0.1002		0.0795	False		,,,				2504	0.182				p.R213H		Atlas-SNP	.											MRPL47,NS,carcinoma,0,1	MRPL47	31	1	1	Substitution - Missense(1)	stomach(1)	c.G638A						PASS	.	C	HIS/ARG,HIS/ARG	406,4000	194.3+/-219.2	18,370,1815	46	49	48		638,308	-2	0.1	3	dbSNP_119	48	670,7930	166.5+/-218.5	24,622,3654	yes	missense,missense	MRPL47	NM_020409.2,NM_177988.1	29,29	42,992,5469	TT,TC,CC		7.7907,9.2147,8.2731	possibly-damaging,possibly-damaging	213/251,103/141	179306775	1076,11930	2203	4300	6503	SO:0001583	missense	57129	exon7			TTCTCACGTTCCA	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.638G>A	3.37:g.179306775C>T	ENSP00000417602:p.Arg213His	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_020409	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	CCDS3232.1	228	0.1043956043956044	58	0.11788617886178862	52	0.143646408839779	60	0.1048951048951049	58	0.07651715039577836	C	3.395	-0.123521	0.06795	0.092147	0.077907	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.47528	1.42;1.43;0.84	5.56	-2.01	0.07410	.	0.746757	0.13039	N	0.418706	T	0.00210	0.0006	N	0.24115	0.695	0.80722	P	0.0	D;D	0.55385	0.971;0.966	B;B	0.43575	0.424;0.346	T	0.06356	-1.0831	9	0.44086	T	0.13	0.8899	4.3523	0.11162	0.4385:0.3685:0.0635:0.1296	rs10513762;rs11553296;rs59617374;rs10513762	193;213	Q9HD33-2;Q9HD33	.;RM47_HUMAN	H	213;193;103	ENSP00000417602:R213H;ENSP00000259038:R193H;ENSP00000376427:R103H	ENSP00000259038:R193H	R	-	2	0	MRPL47	180789469	0.551000	0.26497	0.066000	0.19879	0.080000	0.17528	1.085000	0.30840	-0.508000	0.06540	-0.469000	0.05056	CGT	C|0.903;T|0.097	0.097	strong		0.318	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		T	179306775	C	T	179306775	3	4	22	1	0	0	0	0	1	0	0	0	9811	536	19	1	118	1	MRPL47	3	179306775	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	746194	179306775	18715655	2395	7503										
MRPL47	57129	hgsc.bcm.edu	37	chr3	179322385	179322385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggatgaaactctcctacAaagaagggccaaaccggccg	12	12	1	2	rs2339844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:179322385A>C	ENST00000476781.1	-	1	57	c.28T>G	c.(28-30)Tgt>Ggt	p.C10G	MRPL47_ENST00000259038.2_Missense_Mutation_p.C10G|MRPL47_ENST00000392659.2_5'UTR|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|NDUFB5_ENST00000472629.1_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	10			C -> G (in dbSNP:rs2339844).		translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			ACTCTCCTACAAAGAAGGGCC	0.537													A|||	605	0.120807	0.1044	0.1455	5008	,	,		18033	0.1002		0.0795	False		,,,				2504	0.1892				p.C10G		Atlas-SNP	.											.	MRPL47	31	.	0			c.T28G						PASS	.	A	GLY/CYS,	407,3999	196.7+/-221.0	18,371,1814	81	86	84		28,	5.1	0.1	3	dbSNP_100	84	675,7925	165.8+/-217.9	24,627,3649	yes	missense,utr-5	MRPL47	NM_020409.2,NM_177988.1	159,	42,998,5463	CC,CA,AA		7.8488,9.2374,8.3192	benign,	10/251,	179322385	1082,11924	2203	4300	6503	SO:0001583	missense	57129	exon1			TCCTACAAAGAAG	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.28T>G	3.37:g.179322385A>C	ENSP00000417602:p.Cys10Gly	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_020409	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	CCDS3232.1	228	0.1043956043956044	58	0.11788617886178862	52	0.143646408839779	60	0.1048951048951049	58	0.07651715039577836	A	12.62	1.991639	0.35131	0.092374	0.078488	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.39406	1.08;1.26	5.12	5.12	0.69794	.	0.060494	0.64402	D	0.000003	T	0.00300	0.0009	L	0.47716	1.5	0.09310	P	0.9999999999979553	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.04440	-1.0951	9	0.41790	T	0.15	-3.5543	11.4895	0.50373	1.0:0.0:0.0:0.0	rs2339844;rs56483537;rs58924449;rs2339844	10;10	Q9HD33-2;Q9HD33	.;RM47_HUMAN	G	10	ENSP00000417602:C10G;ENSP00000259038:C10G	ENSP00000259038:C10G	C	-	1	0	MRPL47	180805079	0.393000	0.25237	0.146000	0.22360	0.029000	0.11900	2.637000	0.46553	2.276000	0.75962	0.528000	0.53228	TGT	A|0.897;C|0.103	0.103	strong		0.537	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		C	179322385	A	C	179322385	3	2	22	1	0	0	0	0	1	0	0	0	9811	130	5	5	752	5	MRPL47	3	179322385	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15610	179322385	18700045	2396	7504										
USP13	8975	hgsc.bcm.edu	37	chr3	179371154	179371154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgacagggtctacaagaaCgagtgcgccttctcctacga	12	12	2	1	rs2276803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:179371154C>T	ENST00000263966.3	+	1	612	c.141C>T	c.(139-141)aaC>aaT	p.N47N	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_5'Flank	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	47					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCTACAAGAACGAGTGCGCCT	0.687													C|||	1052	0.210064	0.3767	0.1499	5008	,	,		10066	0.1002		0.1541	False		,,,				2504	0.1984				p.N47N		Atlas-SNP	.											.	USP13	117	.	0			c.C141T						PASS	.	C		1382,2976		225,932,1022	38	29	32		141	1.6	1	3	dbSNP_100	32	1320,7238		111,1098,3070	no	coding-synonymous	USP13	NM_003940.2		336,2030,4092	TT,TC,CC		15.4242,31.7118,20.9198		47/864	179371154	2702,10214	2179	4279	6458	SO:0001819	synonymous_variant	8975	exon1			CAAGAACGAGTGC	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.141C>T	3.37:g.179371154C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																			C|0.795;T|0.205	0.205	strong		0.687	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			T	179371154	C	T	179371154	2	4	22	1	0	0	0	0	0	0	0	1	17041	535	19	1		1	USP13	3	179371154	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48769	179371154	18651276	2397	7505										
TTC14	151613	hgsc.bcm.edu	37	chr3	180325487	180325487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagttactataagaaagcTttggctttggatgagacttt	10	4	0	2	rs9858483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:180325487T>C	ENST00000296015.4	+	10	1356	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	TTC14_ENST00000382584.4_Silent_p.A408A|TTC14_ENST00000412756.2_Silent_p.A408A	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	408							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAAGAAAGCTTTGGCTTTGG	0.289													T|||	349	0.0696885	0.0787	0.1167	5008	,	,		16148	0.0		0.1044	False		,,,				2504	0.0603				p.A408A		Atlas-SNP	.											.	TTC14	112	.	0			c.T1224C						PASS	.	T	,	307,4095	143.5+/-178.5	12,283,1906	60	67	65		1224,1224	3	1	3	dbSNP_119	65	832,7748	182.0+/-230.6	43,746,3501	no	coding-synonymous,coding-synonymous	TTC14	NM_001042601.2,NM_133462.3	,	55,1029,5407	CC,CT,TT		9.697,6.9741,8.7737	,	408/440,408/771	180325487	1139,11843	2201	4290	6491	SO:0001819	synonymous_variant	151613	exon10			GAAAGCTTTGGCT	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1224T>C	3.37:g.180325487T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	88	36	0.409091	NM_001042601	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	CCDS3237.1																																																																																			T|0.915;C|0.085	0.085	strong		0.289	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		C	180325487	T	C	180325487	2	2	22	1	0	0	0	0	0	0	0	1	16678	1596	56	3		3	TTC14	3	180325487	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	954333	180325487	17696943	2398	7506										
FXR1	8087	hgsc.bcm.edu	37	chr3	180630500	180630500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgacggtggaggttcgCggctctaacggggctttcta	16	9	2	1	rs1805578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:180630500C>T	ENST00000357559.4	+	1	411	c.27C>T	c.(25-27)cgC>cgT	p.R9R	FXR1_ENST00000491674.1_Silent_p.R9R|FXR1_ENST00000491062.1_Silent_p.R9R|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Silent_p.R9R|FXR1_ENST00000480918.1_5'Flank|FXR1_ENST00000305586.7_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	9	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGAGGTTCGCGGCTCTAACG	0.592											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	179	0.0357428	0.1263	0.0159	5008	,	,		11846	0.0		0.001	False		,,,				2504	0.0				p.R9R		Atlas-SNP	.											.	FXR1	75	.	0			c.C27T						PASS	.	C	,,	444,3962	214.1+/-233.5	22,400,1781	146	145	145		27,,27	0.7	1	3	dbSNP_92	145	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,utr-5,coding-synonymous	FXR1	NM_001013438.2,NM_001013439.2,NM_005087.3	,,	22,405,6076	TT,TC,CC		0.0581,10.0772,3.4523	,,	9/540,,9/622	180630500	449,12557	2203	4300	6503	SO:0001819	synonymous_variant	8087	exon1			GGTTCGCGGCTCT	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.27C>T	3.37:g.180630500C>T		Somatic	312	1	0.00320513	1963	WXS	Illumina HiSeq	Phase_I	304	168	0.552632	NM_001013438	A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	CCDS3238.1																																																																																			C|0.961;T|0.039	0.039	strong		0.592	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			T	180630500	C	T	180630500	2	4	22	1	0	0	0	0	0	0	0	1	6115	755	27	1		1	FXR1	3	180630500	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	305013	180630500	17391930	2399	7507										
ATP11B	23200	hgsc.bcm.edu	37	chr3	182614493	182614493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctttctgtttagatgttTggaaactggacatttggcac	9	6	2	1	rs4859142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:182614493T>C	ENST00000323116.5	+	26	3248	c.2988T>C	c.(2986-2988)ttT>ttC	p.F996F		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	996					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTAGATGTTTGGAAACTGGA	0.323													T|||	719	0.14357	0.3472	0.1081	5008	,	,		17954	0.0417		0.0895	False		,,,				2504	0.0542				p.F996F		Atlas-SNP	.											.	ATP11B	115	.	0			c.T2988C						PASS	.	T		1361,3045	452.6+/-350.1	208,945,1050	252	246	248		2988	4.5	1	3	dbSNP_111	248	858,7740	195.2+/-240.5	39,780,3480	no	coding-synonymous	ATP11B	NM_014616.1		247,1725,4530	CC,CT,TT		9.9791,30.8897,17.064		996/1178	182614493	2219,10785	2203	4299	6502	SO:0001819	synonymous_variant	23200	exon26			GATGTTTGGAAAC	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2988T>C	3.37:g.182614493T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	152	70	0.460526	NM_014616	Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	CCDS33896.1	294	0.1346153846153846	156	0.3170731707317073	38	0.10497237569060773	25	0.043706293706293704	75	0.09894459102902374	T	9.681	1.149424	0.21288	0.308897	0.099791	ENSG00000058063	ENST00000498086	.	.	.	5.66	4.5	0.54988	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.20207	-1.0282	3	.	.	.	.	11.301	0.49306	0.0:0.0712:0.0:0.9288	rs4859142;rs56539343;rs4859142	.	.	.	S	797	.	.	L	+	2	0	ATP11B	184097187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.720000	0.68470	0.979000	0.38497	0.455000	0.32223	TTG	T|0.842;C|0.158	0.158	strong		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		C	182614493	T	C	182614493	2	2	22	1	0	0	0	0	0	0	0	1	1120	1809	63	2		2	ATP11B	3	182614493	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1983993	182614493	15407937	2400	7508										
MCF2L2	23101	hgsc.bcm.edu	37	chr3	182994744	182994744	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctttcaaagatttcttcaCtctgaagtgaaagaaatttt	7	6	4	4	rs61731401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:182994744C>T	ENST00000328913.3	-	15	2075	c.1778G>A	c.(1777-1779)aGt>aAt	p.S593N	MCF2L2_ENST00000447025.2_Splice_Site_p.S593N|MCF2L2_ENST00000414362.2_Splice_Site_p.S593N|MCF2L2_ENST00000473233.1_Splice_Site_p.S593N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	593							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATTTCTTCACTCTGAAGTGA	0.443													T|||	136	0.0271565	0.0983	0.0072	5008	,	,		13396	0.0		0.001	False		,,,				2504	0.0				p.S593N		Atlas-SNP	.											MCF2L2,brain,glioma,0,1	MCF2L2	164	1	0			c.G1778A						PASS	.	T	ASN/SER	379,4027	769.4+/-413.7	24,331,1848	23	23	23		1778	3.7	1	3	dbSNP_129	23	2,8598	800.0+/-407.4	0,2,4298	yes	missense-near-splice	MCF2L2	NM_015078.2	46	24,333,6146	TT,TC,CC		0.0233,8.6019,2.9294	benign	593/1115	182994744	381,12625	2203	4300	6503	SO:0001630	splice_region_variant	23101	exon15			TCTTCACTCTGAA	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1777-1G>A	3.37:g.182994744C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	104	47	0.451923	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	46	0.021062271062271064	43	0.08739837398373984	3	0.008287292817679558	0	0.0	0	0.0	T	0.017	-1.489466	0.01018	0.086019	2.33E-4	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.04603	4.59;4.6;3.71;3.59	4.9	3.66	0.41972	.	0.531863	0.17868	N	0.159298	T	0.00109	0.0003	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.57394	-0.7819	10	0.31617	T	0.26	.	4.0278	0.09695	0.1805:0.097:0.0:0.7224	.	593;593	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	N	593;593;593;129;593	ENSP00000328118:S593N;ENSP00000420070:S593N;ENSP00000388190:S593N;ENSP00000414131:S593N	ENSP00000328118:S593N	S	-	2	0	MCF2L2	184477438	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	1.042000	0.30303	1.010000	0.39314	-0.360000	0.07572	AGT	C|0.975;T|0.025	0.025	strong		0.443	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Missense_Mutation	T	182994744	C	T	182994744	5	4	22	1	0	0	0	0	0	0	1	0	9380	579	20	2	1630	2	MCF2L2	3	182994744	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	380251	182994744	15027686	2401	7509										
MCF2L2	23101	hgsc.bcm.edu	37	chr3	183027542	183027542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttttgtgttccttaagaaTctgctccacgtgcatcacgc	7	11	2	1	rs7639705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183027542T>G	ENST00000328913.3	-	10	1372	c.1075A>C	c.(1075-1077)Att>Ctt	p.I359L	MCF2L2_ENST00000447025.2_Missense_Mutation_p.I359L|MCF2L2_ENST00000414362.2_Missense_Mutation_p.I359L|MCF2L2_ENST00000473233.1_Missense_Mutation_p.I359L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	359			I -> L (in dbSNP:rs7639705). {ECO:0000269|PubMed:14702039}.				Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I359L(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCTTAAGAATCTGCTCCACG	0.448													G|||	1675	0.334465	0.4244	0.2363	5008	,	,		17356	0.3562		0.2167	False		,,,				2504	0.3814				p.I359L		Atlas-SNP	.											MCF2L2,NS,carcinoma,0,1	MCF2L2	164	1	1	Substitution - Missense(1)	stomach(1)	c.A1075C						scavenged	.	G	LEU/ILE	1762,2644	645.6+/-398.2	377,1008,818	160	148	152		1075	3.8	0	3	dbSNP_116	152	1689,6911	738.6+/-407.1	170,1349,2781	yes	missense	MCF2L2	NM_015078.2	5	547,2357,3599	GG,GT,TT		19.6395,39.9909,26.5339	benign	359/1115	183027542	3451,9555	2203	4300	6503	SO:0001583	missense	23101	exon10			TAAGAATCTGCTC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1075A>C	3.37:g.183027542T>G	ENSP00000328118:p.Ile359Leu	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	126	74	0.587302	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	637	0.2916666666666667	181	0.3678861788617886	96	0.26519337016574585	192	0.3356643356643357	168	0.22163588390501318	G	0.349	-0.945787	0.02304	0.399909	0.196395	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	4.73	3.84	0.44239	.	0.066665	0.64402	N	0.000009	T	0.00012	0.0000	N	0.00456	-1.48	0.49483	P	2.0600000000003948E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44862	-0.9300	9	0.02654	T	1	.	14.0032	0.64446	0.0:0.0:0.7235:0.2765	rs7639705;rs17749805;rs52825331;rs61011857;rs7639705	359;359	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	L	359	ENSP00000328118:I359L;ENSP00000420070:I359L;ENSP00000388190:I359L;ENSP00000414131:I359L	ENSP00000328118:I359L	I	-	1	0	MCF2L2	184510236	1.000000	0.71417	0.037000	0.18230	0.074000	0.17049	3.804000	0.55568	0.706000	0.31912	-0.121000	0.15023	ATT	T|0.718;G|0.282	0.282	strong		0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		G	183027542	T	G	183027542	3	3	22	1	0	0	0	0	1	0	0	0	9380	1435	50	5	2353	5	MCF2L2	3	183027542	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32798	183027542	14994888	2402	7510										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183226213	183226213	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtccagcgagtgtgtgtcAgccagcctcagtattccaac	10	13	2	0	rs16857710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183226213A>G	ENST00000341319.3	-	3	578	c.543T>C	c.(541-543)gcT>gcC	p.A181A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	181	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A181A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AGTGTGTGTCAGCCAGCCTCA	0.488													G|||	732	0.146166	0.3298	0.0461	5008	,	,		21081	0.1796		0.002	False		,,,				2504	0.0828				p.A181A		Atlas-SNP	.											KLHL6,NS,carcinoma,0,1	KLHL6	100	1	1	Substitution - coding silent(1)	stomach(1)	c.T543C						PASS	.	G		1372,3034	690.3+/-405.2	209,954,1040	73	78	76		543	-8.7	0.3	3	dbSNP_123	76	18,8582	818.4+/-406.9	0,18,4282	no	coding-synonymous	KLHL6	NM_130446.2		209,972,5322	GG,GA,AA		0.2093,31.1394,10.6874		181/622	183226213	1390,11616	2203	4300	6503	SO:0001819	synonymous_variant	89857	exon3			TGTGTCAGCCAGC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.543T>C	3.37:g.183226213A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	149	88	0.590604	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																			A|0.870;G|0.130	0.130	strong		0.488	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		G	183226213	A	G	183226213	2	3	22	1	0	0	0	0	0	0	0	1	8393	175	7	3		3	KLHL6	3	183226213	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	198671	183226213	14796217	2403	7511										
KLHL24	54800	hgsc.bcm.edu	37	chr3	183368216	183368216	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattccccagcaactaagcgAaaagtttttgaaatggaccc	8	10	0	1	rs3755648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183368216A>T	ENST00000454652.2	+	4	458	c.72A>T	c.(70-72)cgA>cgT	p.R24R	KLHL24_ENST00000242810.6_Silent_p.R24R|KLHL24_ENST00000476808.1_Silent_p.R24R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	24						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R24R(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAACTAAGCGAAAAGTTTTTG	0.403													T|||	1755	0.350439	0.5144	0.2795	5008	,	,		17517	0.4355		0.2654	False		,,,				2504	0.1789				p.R24R		Atlas-SNP	.											KLHL24,caecum,carcinoma,+1,2	KLHL24	56	2	1	Substitution - coding silent(1)	stomach(1)	c.A72T						PASS	.	T		2126,2280	578.7+/-384.7	527,1072,604	63	67	66		72	-3.2	1	3	dbSNP_107	66	2370,6230	697.6+/-405.0	339,1692,2269	no	coding-synonymous	KLHL24	NM_017644.3		866,2764,2873	TT,TA,AA		27.5581,48.2524,34.5687		24/601	183368216	4496,8510	2203	4300	6503	SO:0001819	synonymous_variant	54800	exon3			TAAGCGAAAAGTT		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.72A>T	3.37:g.183368216A>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	150	62	0.413333	NM_017644	A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	CCDS3246.1																																																																																			A|0.647;T|0.353	0.353	strong		0.403	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		T	183368216	A	T	183368216	2	4	22	1	0	0	0	0	0	0	0	1	8379	233	9	5		5	KLHL24	3	183368216	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	142003	183368216	14654214	2404	7512										
KLHL24	54800	hgsc.bcm.edu	37	chr3	183368891	183368891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagaagaccactgttacaCgagctcctgacacatgtgag	10	11	0	4	rs2293031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183368891C>T	ENST00000454652.2	+	4	1133	c.747C>T	c.(745-747)caC>caT	p.H249H	KLHL24_ENST00000242810.6_Silent_p.H249H|KLHL24_ENST00000476808.1_Silent_p.H249H	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	249	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CACTGTTACACGAGCTCCTGA	0.443													T|||	1769	0.353235	0.5151	0.2867	5008	,	,		20428	0.4355		0.2714	False		,,,				2504	0.181				p.H249H		Atlas-SNP	.											.	KLHL24	56	.	0			c.C747T						PASS	.	T		2139,2267	597.0+/-388.8	533,1073,597	132	122	125		747	-3.9	0.6	3	dbSNP_100	125	2403,6197	699.6+/-405.1	348,1707,2245	no	coding-synonymous	KLHL24	NM_017644.3		881,2780,2842	TT,TC,CC		27.9419,48.5474,34.9223		249/601	183368891	4542,8464	2203	4300	6503	SO:0001819	synonymous_variant	54800	exon3			GTTACACGAGCTC		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.747C>T	3.37:g.183368891C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	157	88	0.56051	NM_017644	A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	CCDS3246.1																																																																																			C|0.626;T|0.374	0.374	strong		0.443	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		T	183368891	C	T	183368891	2	4	22	1	0	0	0	0	0	0	0	1	8379	535	19	1		1	KLHL24	3	183368891	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	675	183368891	14653539	2405	7513										
YEATS2	55689	hgsc.bcm.edu	37	chr3	183432983	183432983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgaaccatcaaagaaacCgaccctgattacgaggatgt	9	10	1	2	rs3736535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183432983C>T	ENST00000305135.5	+	2	228	c.33C>T	c.(31-33)acC>acT	p.T11T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	11					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAAAGAAACCGACCCTGATT	0.348													C|||	948	0.189297	0.1377	0.3256	5008	,	,		17209	0.2937		0.1382	False		,,,				2504	0.1074				p.T11T		Atlas-SNP	.											.	YEATS2	111	.	0			c.C33T						PASS	.	C		580,3174		46,488,1343	121	123	122		33	-11.3	0.4	3	dbSNP_107	122	1316,6900		119,1078,2911	no	coding-synonymous	YEATS2	NM_018023.4		165,1566,4254	TT,TC,CC		16.0175,15.4502,15.8396		11/1423	183432983	1896,10074	1877	4108	5985	SO:0001819	synonymous_variant	55689	exon2			AGAAACCGACCCT	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.33C>T	3.37:g.183432983C>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	176	105	0.596591	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	CCDS43175.1																																																																																			C|0.804;T|0.196	0.196	strong		0.348	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		T	183432983	C	T	183432983	2	4	22	1	0	0	0	0	0	0	0	1	17469	639	23	1		1	YEATS2	3	183432983	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64092	183432983	14589447	2406	7514										
ABCC5	10057	hgsc.bcm.edu	37	chr3	183696387	183696387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccacacccacagtgatGctctggaagtacccagcttt	10	13	1	1	rs1053386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183696387G>A	ENST00000334444.6	-	9	1440	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Silent_p.S400S	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	400	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.			S -> G (in Ref. 1; AAD04169). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCACAGTGATGCTCTGGAAGT	0.488													G|||	455	0.0908546	0.3321	0.0216	5008	,	,		19202	0.0		0.001	False		,,,				2504	0.0				p.S400S		Atlas-SNP	.											.	ABCC5	142	.	0			c.C1200T						PASS	.	G		1053,3073		142,769,1152	91	108	103		1200	2.9	1	3	dbSNP_86	103	6,8404		0,6,4199	no	coding-synonymous	ABCC5	NM_005688.2		142,775,5351	AA,AG,GG		0.0713,25.5211,8.4477		400/1438	183696387	1059,11477	2063	4205	6268	SO:0001819	synonymous_variant	10057	exon9			AGTGATGCTCTGG	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1200C>T	3.37:g.183696387G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																			G|0.913;A|0.087	0.087	strong		0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183696387	G	A	183696387	2	1	22	1	0	0	0	0	0	0	0	1	56	1310	46	2		2	ABCC5	3	183696387	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	263404	183696387	14326043	2407	7515										
HTR3E	285242	hgsc.bcm.edu	37	chr3	183824398	183824398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggttgcagttcagccacGcgatggacgccatgctcttc	12	12	2	0	rs13324468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183824398G>A	ENST00000415389.2	+	9	1754	c.1288G>A	c.(1288-1290)Gcg>Acg	p.A430T	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Missense_Mutation_p.A456T|HTR3E_ENST00000425359.2_Missense_Mutation_p.A415T|HTR3E_ENST00000436361.2_Missense_Mutation_p.A430T|HTR3E_ENST00000335304.2_Missense_Mutation_p.A445T	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	430			A -> T (in dbSNP:rs13324468).		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTTCAGCCACGCGATGGACGC	0.607													G|||	210	0.0419329	0.1543	0.0086	5008	,	,		18903	0.0		0.0	False		,,,				2504	0.0				p.A456T	Melanoma(7;227 727 6634 44770)	Atlas-SNP	.											.	HTR3E	65	.	0			c.G1366A						PASS	.	G	THR/ALA	520,3886	239.0+/-250.2	27,466,1710	171	152	158		1333	-5.5	0	3	dbSNP_121	158	5,8595	4.3+/-15.6	0,5,4295	no	missense	HTR3E	NM_182589.2	58	27,471,6005	AA,AG,GG		0.0581,11.8021,4.0366	benign	445/472	183824398	525,12481	2203	4300	6503	SO:0001583	missense	285242	exon7			AGCCACGCGATGG	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1288G>A	3.37:g.183824398G>A	ENSP00000401444:p.Ala430Thr	Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	283	146	0.515901	NM_001256614	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	109	0.04990842490842491	104	0.21138211382113822	5	0.013812154696132596	0	0.0	0	0.0	g	4.180	0.031992	0.08101	0.118021	5.81E-4	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.07	-5.5	0.02576	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.871980	0.03018	N	0.150396	T	0.00109	0.0003	N	0.04043	-0.29	0.80722	P	0.0	B;B;B;B;B	0.12013	0.001;0.0;0.005;0.001;0.001	B;B;B;B;B	0.11329	0.005;0.004;0.006;0.002;0.002	T	0.10019	-1.0648	9	0.49607	T	0.09	.	7.9969	0.30273	0.2122:0.3113:0.4765:0.0	rs13324468;rs56491361;rs13324468	456;430;430;445;415	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	T	430;415;445;430;456	ENSP00000401444:A430T;ENSP00000401900:A415T;ENSP00000335511:A445T;ENSP00000395833:A430T;ENSP00000406050:A456T	ENSP00000335511:A445T	A	+	1	0	HTR3E	185307092	0.000000	0.05858	0.038000	0.18304	0.020000	0.10135	0.081000	0.14823	-1.048000	0.03238	-2.223000	0.00295	GCG	G|0.941;A|0.059	0.059	strong		0.607	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183824398	G	A	183824398	3	1	22	1	0	0	0	0	1	0	0	0	7448	1087	38	1	1363	1	HTR3E	3	183824398	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128011	183824398	14198032	2408	7516										
ALG3	10195	hgsc.bcm.edu	37	chr3	183963000	183963000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgacctgaaaaagcagcaAccccagccccagcgctgggc	11	15	0	2	rs2233464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183963000A>G	ENST00000397676.3	-	4	621	c.591T>C	c.(589-591)ggT>ggC	p.G197G	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.G149G|ALG3_ENST00000455059.1_Silent_p.G157G|ALG3_ENST00000418734.2_Silent_p.G141G|ALG3_ENST00000463495.1_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	197					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAAGCAGCAACCCCAGCCCC	0.542													G|||	247	0.0493211	0.1808	0.0115	5008	,	,		20053	0.0		0.0	False		,,,				2504	0.0				p.G197G		Atlas-SNP	.											.	ALG3	48	.	0			c.T591C						PASS	.	G	,	483,3459		24,435,1512	36	42	40		447,591	2	1	3	dbSNP_98	40	4,8306		0,4,4151	no	coding-synonymous,coding-synonymous	ALG3	NM_001006941.2,NM_005787.5	,	24,439,5663	GG,GA,AA		0.0481,12.2527,3.9749	,	149/391,197/439	183963000	487,11765	1971	4155	6126	SO:0001819	synonymous_variant	10195	exon4			GCAGCAACCCCAG	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.591T>C	3.37:g.183963000A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	136	67	0.492647	NM_005787	A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	CCDS46968.1																																																																																			A|0.962;G|0.038	0.038	strong		0.542	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		G	183963000	A	G	183963000	2	3	22	1	0	0	0	0	0	0	0	1	520	30	2	2		2	ALG3	3	183963000	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	138602	183963000	14059430	2409	7517										
ECE2	9718	hgsc.bcm.edu	37	chr3	183967500	183967500	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatggcctctccaggggcAggtagggcgcctccggagtt	16	12	1	0	rs2233461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183967500A>C	ENST00000402825.3	+	1	18	c.18A>C	c.(16-18)gcA>gcC	p.A6A	ALG3_ENST00000397676.3_5'Flank|ECE2_ENST00000324557.4_Silent_p.A6A|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000445626.2_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_5'Flank	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	6	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCAGGGGCAGGTAGGGCGC	0.672											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	246	0.0491214	0.1793	0.013	5008	,	,		15078	0.0		0.0	False		,,,				2504	0.0				p.A6A		Atlas-SNP	.											.	ECE2	303	.	0			c.A18C						PASS	.	C	,	533,3863		28,477,1693	18	21	20		18,18	-10.9	0	3	dbSNP_98	20	4,8584		0,4,4290	no	coding-synonymous,coding-synonymous	ECE2	NM_014693.3,NM_032331.3	,	28,481,5983	CC,CA,AA		0.0466,12.1247,4.1359	,	6/884,6/256	183967500	537,12447	2198	4294	6492	SO:0001819	synonymous_variant	9718	exon1			AGGGGCAGGTAGG	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.18A>C	3.37:g.183967500A>C		Somatic	51	0	0	1988	WXS	Illumina HiSeq	Phase_I	58	34	0.586207	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																			A|0.943;C|0.057	0.057	strong		0.672	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		C	183967500	A	C	183967500	2	2	22	1	0	0	0	0	0	0	0	1	4890	175	7	5		5	ECE2	3	183967500	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4500	183967500	14054930	2410	7518										
ECE2	9718	hgsc.bcm.edu	37	chr3	183976108	183976108	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtccctggaggccggttTatctcaatgacttctgctgc	10	12	2	1	rs902415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183976108T>C	ENST00000402825.3	+	2	480				ECE2_ENST00000324557.4_Silent_p.F171F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGCCGGTTTATCTCAATGA	0.552													C|||	1629	0.32528	0.4818	0.2536	5008	,	,		19663	0.3393		0.2455	False		,,,				2504	0.2321				p.F171F		Atlas-SNP	.											.	ECE2	303	.	0			c.T513C						PASS	.	C	,	1812,2594	639.0+/-397.0	394,1024,785	146	138	141		,513	3.2	1	3	dbSNP_86	141	1974,6626	723.8+/-406.5	226,1522,2552	no	intron,coding-synonymous	ECE2	NM_014693.3,NM_032331.3	,	620,2546,3337	CC,CT,TT		22.9535,41.1257,29.1096	,	,171/256	183976108	3786,9220	2203	4300	6503	SO:0001627	intron_variant	9718	exon3			CCGGTTTATCTCA	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.480+564T>C	3.37:g.183976108T>C		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	176	81	0.460227	NM_032331	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																			T|0.697;C|0.303	0.303	strong		0.552	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		C	183976108	T	C	183976108	1	2	22	0	1	0	0	0	0	0	0	0	4890	1751	61	2		2	ECE2	3	183976108	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8608	183976108	14046322	2411	7519										
CAMK2N2	94032	hgsc.bcm.edu	37	chr3	183978936	183978936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccgatctggcccagcttGgggggtcgcttggcctggtt	17	12	1	0	rs75699255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:183978936G>A	ENST00000296238.3	-	1	315	c.138C>T	c.(136-138)ccC>ccT	p.P46P	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	46	Inhibitory domain. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			GGCCCAGCTTGGGGGGTCGCT	0.736													G|||	200	0.0399361	0.146	0.0101	5008	,	,		8663	0.0		0.0	False		,,,				2504	0.0				p.P46P		Atlas-SNP	.											.	CAMK2N2	2	.	0			c.C138T						PASS	.	G	,	416,3990		19,378,1806	18	21	20		,138	-0.8	1	3	dbSNP_132	20	3,8597		0,3,4297	no	intron,coding-synonymous	ECE2,CAMK2N2	NM_014693.3,NM_033259.2	,	19,381,6103	AA,AG,GG		0.0349,9.4417,3.2216	,	,46/80	183978936	419,12587	2203	4300	6503	SO:0001819	synonymous_variant	94032	exon1			CAGCTTGGGGGGT	AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.138C>T	3.37:g.183978936G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	50	31	0.62	NM_033259		Silent	SNP	ENST00000296238.3	37	CCDS3257.1																																																																																			G|0.962;A|0.038	0.038	strong		0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		A	183978936	G	A	183978936	2	1	22	1	0	0	0	0	0	0	0	1	2604	1335	47	2		2	CAMK2N2	3	183978936	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2828	183978936	14043494	2412	7520										
ECE2	9718	hgsc.bcm.edu	37	chr3	184005719	184005719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgaaggccacgtttgaccGgcaaagcaaagaaattgtga	12	8	0	4	rs35875049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184005719G>A	ENST00000402825.3	+	11	1712	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R453Q|ECE2_ENST00000357474.5_Missense_Mutation_p.R499Q|ECE2_ENST00000359140.4_Missense_Mutation_p.R424Q	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	571	Endothelin-converting enzyme 2 region.		R -> Q (in dbSNP:rs35875049).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTTTGACCGGCAAAGCAAA	0.483													G|||	185	0.0369409	0.1346	0.0101	5008	,	,		19271	0.0		0.0	False		,,,				2504	0.0				p.R571Q		Atlas-SNP	.											ECE2_ENST00000402825,colon,carcinoma,0,3	ECE2	303	3	0			c.G1712A						scavenged	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	421,3985	206.5+/-228.1	19,383,1801	78	70	73		1271,1496,1358,1712	4.1	1	3	dbSNP_126	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	43,43,43,43	19,386,6098	AA,AG,GG		0.0349,9.5552,3.26	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	424/737,499/812,453/766,571/884	184005719	424,12582	2203	4300	6503	SO:0001583	missense	9718	exon11			TTGACCGGCAAAG	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1712G>A	3.37:g.184005719G>A	ENSP00000384223:p.Arg571Gln	Somatic	65	1	0.0153846		WXS	Illumina HiSeq	Phase_I	64	30	0.46875	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	76	0.0347985347985348	73	0.1483739837398374	3	0.008287292817679558	0	0.0	0	0.0	G	10.80	1.452917	0.26161	0.095552	3.49E-4	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.95	4.07	0.47477	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.167177	0.42682	N	0.000677	T	0.00300	0.0009	N	0.04203	-0.255	0.31828	P	0.62512	B;B;B;B;B;B;B	0.32829	0.028;0.134;0.386;0.009;0.334;0.11;0.307	B;B;B;B;B;B;B	0.26416	0.028;0.041;0.064;0.003;0.038;0.024;0.069	T	0.08330	-1.0727	9	0.18276	T	0.48	-16.4724	8.5975	0.33725	0.1774:0.0:0.8226:0.0	rs35875049	173;424;442;453;499;424;571	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	Q	571;424;453;499;445	ENSP00000384223:R571Q;ENSP00000352052:R424Q;ENSP00000385846:R453Q;ENSP00000350066:R499Q;ENSP00000398444:R445Q	ENSP00000350066:R499Q	R	+	2	0	ECE2	185488413	0.996000	0.38824	1.000000	0.80357	0.786000	0.44442	2.550000	0.45811	1.078000	0.41014	-0.140000	0.14226	CGG	G|0.967;A|0.033	0.033	strong		0.483	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		A	184005719	G	A	184005719	3	1	22	1	0	0	0	0	1	0	0	0	4890	1116	39	1	2318	1	ECE2	3	184005719	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26783	184005719	14016711	2413	7521										
PSMD2	5708	hgsc.bcm.edu	37	chr3	184023918	184023918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgcagttttgccaacacActggtggatgtgtgtgcata	11	9	0	0	rs34477849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184023918A>G	ENST00000310118.4	+	14	2337	c.1779A>G	c.(1777-1779)acA>acG	p.T593T	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.T463T|PSMD2_ENST00000435761.1_Silent_p.T434T	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTGCCAACACACTGGTGGATG	0.507											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	103	0.0205671	0.0741	0.0072	5008	,	,		22790	0.0		0.0	False		,,,				2504	0.0				p.T593T	Colon(24;313 636 6917 9932 15554)	Atlas-SNP	.											.	PSMD2	56	.	0			c.A1779G						PASS	.	A		261,4145	150.3+/-184.3	8,245,1950	150	112	125		1779	-12	0	3	dbSNP_126	125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PSMD2	NM_002808.3		8,247,6248	GG,GA,AA		0.0233,5.9237,2.0221		593/909	184023918	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	5708	exon14			CAACACACTGGTG	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1779A>G	3.37:g.184023918A>G		Somatic	284	1	0.00352113	1988	WXS	Illumina HiSeq	Phase_I	362	189	0.522099	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	CCDS3258.1	35	0.016025641025641024	33	0.06707317073170732	2	0.0055248618784530384	0	0.0	0	0.0	A	9.215	1.031899	0.19590	0.059237	2.33E-4	ENSG00000175166	ENST00000432855	.	.	.	6.0	-12.0	0.00017	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54077	-0.8347	4	.	.	.	-13.3765	7.9576	0.30051	0.2487:0.1375:0.4867:0.1271	rs34477849;rs34477849	.	.	.	R	54	.	.	H	+	2	0	PSMD2	185506612	0.000000	0.05858	0.009000	0.14445	0.973000	0.67179	-2.546000	0.00932	-2.989000	0.00280	-1.179000	0.01719	CAC	A|0.976;G|0.024	0.024	strong		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		G	184023918	A	G	184023918	2	3	22	1	0	0	0	0	0	0	0	1	12698	146	6	2		2	PSMD2	3	184023918	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18199	184023918	13998512	2414	7522										
EIF4G1	1981	hgsc.bcm.edu	37	chr3	184039304	184039304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgaaactggggagccatAtcgcctctctccagaaccca	9	15	1	2	rs16858632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184039304A>G	ENST00000346169.2	+	10	1203	c.932A>G	c.(931-933)tAt>tGt	p.Y311C	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.Y311C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Y115C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Y311C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Y224C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Y271C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Y224C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Y147C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.Y318C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.Y271C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Y115C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Y318C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Y147C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Y318C	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	311			Y -> C (in dbSNP:rs16858632). {ECO:0000269|PubMed:21907011}.		cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGAGCCATATCGCCTCTCT	0.493													A|||	104	0.0207668	0.0749	0.0072	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0				p.Y318C		Atlas-SNP	.											.	EIF4G1	151	.	0			c.A953G						PASS	.	A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	263,4143	151.0+/-185.0	8,247,1948	61	61	61		953,953,344,932,932,440,671	3.1	1	3	dbSNP_123	61	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	194,194,194,194,194,194,194	8,250,6245	GG,GA,AA		0.0349,5.9691,2.0452	benign,benign,benign,benign,benign,benign,benign	318/1607,318/1607,115/1405,311/1601,311/1600,147/1436,224/1513	184039304	266,12740	2203	4300	6503	SO:0001583	missense	1981	exon11			AGCCATATCGCCT	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.932A>G	3.37:g.184039304A>G	ENSP00000316879:p.Tyr311Cys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	137	64	0.467153	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	36	0.016483516483516484	34	0.06910569105691057	2	0.0055248618784530384	0	0.0	0	0.0	A	11.01	1.512111	0.27036	0.059691	3.49E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	4.06;4.06;3.96;0.66;2.96;2.96;4.06;3.13;3.87;4.06;3.97;4.06;4.06;4.06;4.06;2.54;3.87;0.81;3.87;0.84;1.32;3.87	5.5	3.12	0.35913	.	0.732877	0.13056	N	0.417280	T	0.02418	0.0074	N	0.19112	0.55	0.29831	N	0.830056	B;B;B;B	0.26081	0.0;0.0;0.141;0.001	B;B;B;B	0.22753	0.001;0.001;0.041;0.001	T	0.05468	-1.0883	10	0.54805	T	0.06	-0.6548	6.9547	0.24563	0.755:0.1607:0.0843:0.0	rs16858632;rs16858632	318;311;311;318	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	C	311;271;224;115;311;318;318;252;147;318;224;311;311;318;271;147;147;115;115;115;115;115	ENSP00000316879:Y311C;ENSP00000391935:Y271C;ENSP00000376320:Y224C;ENSP00000407244:Y115C;ENSP00000391412:Y311C;ENSP00000413159:Y318C;ENSP00000371767:Y318C;ENSP00000403269:Y252C;ENSP00000317600:Y147C;ENSP00000338020:Y318C;ENSP00000407682:Y224C;ENSP00000343450:Y311C;ENSP00000323737:Y311C;ENSP00000416255:Y318C;ENSP00000395974:Y271C;ENSP00000398145:Y147C;ENSP00000399858:Y147C;ENSP00000411707:Y115C;ENSP00000411826:Y115C;ENSP00000409545:Y115C;ENSP00000399969:Y115C;ENSP00000404754:Y115C	ENSP00000323737:Y311C	Y	+	2	0	EIF4G1	185521998	0.889000	0.30405	0.999000	0.59377	0.971000	0.66376	1.202000	0.32271	1.106000	0.41623	0.533000	0.62120	TAT	A|0.976;G|0.024	0.024	strong		0.493	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		G	184039304	A	G	184039304	3	3	22	1	0	0	0	0	1	0	0	0	5036	449	16	2	962	2	EIF4G1	3	184039304	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15386	184039304	13983126	2415	7523										
EIF4G1	1981	hgsc.bcm.edu	37	chr3	184045410	184045410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacccccagtgagcccccTgaaggcggctctctctgagg	11	17	2	3	rs2230570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184045410T>C	ENST00000346169.2	+	25	3969	c.3698T>C	c.(3697-3699)cTg>cCg	p.L1233P	EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1234P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1037P|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1147P|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1069P|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1193P|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1240P|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1038P|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1240P|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1146P|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1240P|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1070P|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1194P|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1233P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1233			L -> P (in dbSNP:rs2230570). {ECO:0000269|PubMed:21907011}.		cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAGCCCCCTGAAGGCGGCT	0.507													C|||	172	0.034345	0.0961	0.0317	5008	,	,		20121	0.0		0.0219	False		,,,				2504	0.001				p.L1240P		Atlas-SNP	.											.	EIF4G1	151	.	0			c.T3719C						PASS	.	C	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU	362,4044		12,338,1853	74	83	80		3719,3719,3113,3701,3698,3206,3437	0.5	0	3	dbSNP_98	80	183,8417		2,179,4119	yes	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	98,98,98,98,98,98,98	14,517,5972	CC,CT,TT		2.1279,8.2161,4.1904	benign,benign,benign,benign,benign,benign,benign	1240/1607,1240/1607,1038/1405,1234/1601,1233/1600,1069/1436,1146/1513	184045410	545,12461	2203	4300	6503	SO:0001583	missense	1981	exon26			GCCCCCTGAAGGC	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3698T>C	3.37:g.184045410T>C	ENSP00000316879:p.Leu1233Pro	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	174	89	0.511494	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	74	0.03388278388278388	43	0.08739837398373984	11	0.03038674033149171	0	0.0	20	0.026385224274406333	C	4.699	0.129922	0.08981	0.082161	0.021279	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03496	4.09;4.09;4.01;4.09;3.91;4.09;4.01;4.09;4.09;4.09;4.08;3.92;3.92;3.92	5.2	0.492	0.16872	.	0.571971	0.20603	N	0.089109	T	0.00073	0.0002	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.48317	-0.9046	10	0.21014	T	0.42	-0.5527	10.8334	0.46673	0.0:0.6479:0.0:0.3521	rs2230570;rs2230570	1240;1234;1233	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	P	1233;1193;1146;1240;1069;1240;1147;1234;1233;1240;1194;1070;1038;1037	ENSP00000316879:L1233P;ENSP00000391935:L1193P;ENSP00000376320:L1146P;ENSP00000371767:L1240P;ENSP00000317600:L1069P;ENSP00000338020:L1240P;ENSP00000407682:L1147P;ENSP00000343450:L1234P;ENSP00000323737:L1233P;ENSP00000416255:L1240P;ENSP00000395974:L1194P;ENSP00000399858:L1070P;ENSP00000411826:L1038P;ENSP00000404754:L1037P	ENSP00000323737:L1233P	L	+	2	0	EIF4G1	185528104	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.936000	0.28938	-0.315000	0.08703	-1.536000	0.00914	CTG	T|0.960;C|0.040	0.040	strong		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184045410	T	C	184045410	3	2	22	1	0	0	0	0	1	0	0	0	5036	1580	55	3	3788	3	EIF4G1	3	184045410	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6106	184045410	13977020	2416	7524										
CHRD	8646	hgsc.bcm.edu	37	chr3	184099050	184099050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtcgccgtaccaggggcCctggcagggtcagctgcaag	18	12	1	0	rs34095724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184099050C>T	ENST00000204604.1	+	3	526	c.280C>T	c.(280-282)Cct>Tct	p.P94S	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000450923.1_Missense_Mutation_p.P94S|CHRD_ENST00000348986.3_Missense_Mutation_p.P94S|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	94	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.		P -> S (in dbSNP:rs34095724).		BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCAGGGGCCCTGGCAGGGT	0.657													C|||	195	0.0389377	0.093	0.0173	5008	,	,		14626	0.002		0.0378	False		,,,				2504	0.0204				p.P94S		Atlas-SNP	.											.	CHRD	149	.	0			c.C280T						PASS	.	C	SER/PRO	410,3994		18,374,1810	21	26	24		280	4.3	1	3	dbSNP_126	24	292,8302		2,288,4007	yes	missense	CHRD	NM_003741.2	74	20,662,5817	TT,TC,CC		3.3977,9.3097,5.4008	benign	94/956	184099050	702,12296	2202	4297	6499	SO:0001583	missense	8646	exon3			AGGGGCCCTGGCA	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.280C>T	3.37:g.184099050C>T	ENSP00000204604:p.Pro94Ser	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	259	135	0.521236	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	92	0.04212454212454213	53	0.10772357723577236	9	0.024861878453038673	1	0.0017482517482517483	29	0.03825857519788918	C	3.315	-0.140029	0.06669	0.093097	0.033977	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.13307	2.83;2.6;2.61	5.18	4.3	0.51218	von Willebrand factor, type C (3);	0.242099	0.43110	D	0.000610	T	0.00144	0.0004	N	0.12182	0.205	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.15870	0.007;0.014	T	0.49960	-0.8883	10	0.20519	T	0.43	-8.4545	7.7367	0.28819	0.0:0.5773:0.3366:0.0861	rs34095724	94;94	E7ESX1;Q9H2X0	.;CHRD_HUMAN	S	94	ENSP00000204604:P94S;ENSP00000408972:P94S;ENSP00000334036:P94S	ENSP00000204604:P94S	P	+	1	0	CHRD	185581744	0.001000	0.12720	1.000000	0.80357	0.678000	0.39670	0.462000	0.21956	1.169000	0.42739	0.561000	0.74099	CCT	C|0.949;T|0.051	0.051	strong		0.657	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		T	184099050	C	T	184099050	3	4	22	1	0	0	0	0	1	0	0	0	3372	623	22	2	290	2	CHRD	3	184099050	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53640	184099050	13923380	2417	7525										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184290348	184290348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatccgcacataccaggtGtgtaatgtgcgcgagtcaag	11	12	1	0	rs9862375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184290348G>A	ENST00000330394.2	+	3	692	c.240G>A	c.(238-240)gtG>gtA	p.V80V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	80	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATACCAGGTGTGTAATGTGC	0.547													G|||	288	0.057508	0.0877	0.072	5008	,	,		19487	0.0		0.1074	False		,,,				2504	0.0143				p.V80V		Atlas-SNP	.											.	EPHB3	114	.	0			c.G240A						PASS	.	G		379,4027	189.9+/-215.9	20,339,1844	65	60	62		240	5.5	1	3	dbSNP_119	62	837,7763	191.8+/-238.0	49,739,3512	no	coding-synonymous	EPHB3	NM_004443.3		69,1078,5356	AA,AG,GG		9.7326,8.6019,9.3495		80/999	184290348	1216,11790	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon3			CCAGGTGTGTAAT	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.240G>A	3.37:g.184290348G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	149	72	0.483221	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			G|0.918;A|0.082	0.082	strong		0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184290348	G	A	184290348	2	1	22	1	0	0	0	0	0	0	0	1	5176	1364	48	2		2	EPHB3	3	184290348	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	191298	184290348	13732082	2418	7526										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184293769	184293769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactctgcggacagtgcctgTaccagtgagtgaacgcgtga	14	10	1	3	rs7652597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184293769T>C	ENST00000330394.2	+	4	1460	c.1008T>C	c.(1006-1008)tgT>tgC	p.C336C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	336	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACAGTGCCTGTACCAGTGAGT	0.592													C|||	1687	0.336861	0.5598	0.2507	5008	,	,		17691	0.1657		0.3608	False		,,,				2504	0.2485				p.C336C		Atlas-SNP	.											.	EPHB3	114	.	0			c.T1008C						PASS	.	C		2352,2054	568.0+/-382.3	610,1132,461	139	129	132		1008	-5.6	0.9	3	dbSNP_116	132	2842,5758	674.6+/-403.1	482,1878,1940	no	coding-synonymous	EPHB3	NM_004443.3		1092,3010,2401	CC,CT,TT		33.0465,46.6182,39.9354		336/999	184293769	5194,7812	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon4			TGCCTGTACCAGT	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1008T>C	3.37:g.184293769T>C		Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	169	169	1	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			T|0.621;C|0.379	0.379	strong		0.592	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		C	184293769	T	C	184293769	2	2	22	1	0	0	0	0	0	0	0	1	5176	1644	57	2		2	EPHB3	3	184293769	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3421	184293769	13728661	2419	7527										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184298663	184298663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgggacatgagcaaccaGgatgtgagtgaggctacgcc	14	9	0	3	rs11719912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184298663G>A	ENST00000330394.2	+	13	2987	c.2535G>A	c.(2533-2535)caG>caA	p.Q845Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGAGCAACCAGGATGTGAGTG	0.567													G|||	331	0.0660942	0.1067	0.0735	5008	,	,		20851	0.0		0.1203	False		,,,				2504	0.0184				p.Q845Q		Atlas-SNP	.											.	EPHB3	114	.	0			c.G2535A						PASS	.	G		441,3965	213.1+/-232.8	26,389,1788	134	126	128		2535	3.2	1	3	dbSNP_120	128	876,7724	197.5+/-242.1	51,774,3475	no	coding-synonymous	EPHB3	NM_004443.3		77,1163,5263	AA,AG,GG		10.186,10.0091,10.1261		845/999	184298663	1317,11689	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon13			CAACCAGGATGTG	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2535G>A	3.37:g.184298663G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	132	59	0.44697	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			G|0.909;A|0.091	0.091	strong		0.567	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184298663	G	A	184298663	2	1	22	1	0	0	0	0	0	0	0	1	5176	991	35	2		2	EPHB3	3	184298663	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4894	184298663	13723767	2420	7528										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184299068	184299068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccctcctggaccgcacGgtcccagattacacaacctt	7	18	0	1	rs9881589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184299068G>A	ENST00000330394.2	+	15	3212	c.2760G>A	c.(2758-2760)acG>acA	p.T920T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	920					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGACCGCACGGTCCCAGATT	0.567													G|||	788	0.157348	0.1377	0.1095	5008	,	,		19897	0.1597		0.1899	False		,,,				2504	0.182				p.T920T		Atlas-SNP	.											.	EPHB3	114	.	0			c.G2760A						PASS	.	G		645,3761	274.9+/-272.2	47,551,1605	117	109	112		2760	-6	0.8	3	dbSNP_119	112	1517,7083	287.1+/-298.1	150,1217,2933	no	coding-synonymous	EPHB3	NM_004443.3		197,1768,4538	AA,AG,GG		17.6395,14.6391,16.6231		920/999	184299068	2162,10844	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon15			CCGCACGGTCCCA	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2760G>A	3.37:g.184299068G>A		Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	282	150	0.531915	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			G|0.834;A|0.166	0.166	strong		0.567	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184299068	G	A	184299068	2	1	22	1	0	0	0	0	0	0	0	1	5176	1103	39	1		1	EPHB3	3	184299068	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	405	184299068	13723362	2421	7529										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184299167	184299167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagtgcggggtttgcatcTtttgacctggtggcccagat	14	9	2	2	rs1138510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184299167T>C	ENST00000330394.2	+	15	3311	c.2859T>C	c.(2857-2859)tcT>tcC	p.S953S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	953	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGTTTGCATCTTTTGACCTGG	0.587													C|||	1660	0.33147	0.5499	0.2435	5008	,	,		18837	0.1677		0.3469	False		,,,				2504	0.2515				p.S953S		Atlas-SNP	.											.	EPHB3	114	.	0			c.T2859C						PASS	.	C		2312,2094	571.9+/-383.2	591,1130,482	93	75	81		2859	3.3	1	3	dbSNP_86	81	2718,5882	680.6+/-403.7	437,1844,2019	no	coding-synonymous	EPHB3	NM_004443.3		1028,2974,2501	CC,CT,TT		31.6047,47.5261,38.6745		953/999	184299167	5030,7976	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon15			TGCATCTTTTGAC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2859T>C	3.37:g.184299167T>C		Somatic	229	1	0.00436681		WXS	Illumina HiSeq	Phase_I	306	305	0.996732	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			T|0.632;C|0.368	0.368	strong		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		C	184299167	T	C	184299167	2	2	22	1	0	0	0	0	0	0	0	1	5176	1596	56	3		3	EPHB3	3	184299167	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99	184299167	13723263	2422	7530										
VPS8	23355	hgsc.bcm.edu	37	chr3	184550501	184550501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatgaagatgagtcttttAttcttgaggatcctacattg	9	5	2	5	rs9830734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184550501A>G	ENST00000437079.3	+	4	418	c.247A>G	c.(247-249)Att>Gtt	p.I83V	VPS8_ENST00000287546.4_Missense_Mutation_p.I83V|VPS8_ENST00000446204.2_Missense_Mutation_p.I83V|VPS8_ENST00000424463.2_Missense_Mutation_p.I83V|VPS8_ENST00000436792.2_Missense_Mutation_p.I83V	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	83			I -> V (in dbSNP:rs9830734). {ECO:0000269|PubMed:17974005}.				zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGTCTTTTATTCTTGAGGA	0.348													G|||	2774	0.553914	0.7103	0.4452	5008	,	,		18685	0.6657		0.3151	False		,,,				2504	0.5501				p.I83V		Atlas-SNP	.											.	VPS8	109	.	0			c.A247G						PASS	.	G	VAL/ILE,VAL/ILE	2431,1327		802,827,250	125	114	117		247,247	3	1	3	dbSNP_119	117	2377,5857		366,1645,2106	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	29,29	1168,2472,2356	GG,GA,AA		28.8681,35.3113,40.0934	benign,benign	83/1429,83/1427	184550501	4808,7184	1879	4117	5996	SO:0001583	missense	23355	exon4			TCTTTTATTCTTG	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.247A>G	3.37:g.184550501A>G	ENSP00000397879:p.Ile83Val	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	172	78	0.453488	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	1121	0.5132783882783882	336	0.6829268292682927	171	0.4723756906077348	365	0.6381118881118881	249	0.32849604221635886	G	1.030	-0.682044	0.03353	0.646887	0.288681	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.7	2.98	0.34508	.	0.257195	0.38959	N	0.001503	T	0.00012	0.0000	N	0.08118	0	0.46376	P	9.829999999999561E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22068	-1.0227	9	0.20519	T	0.43	-3.4649	8.947	0.35764	0.358:0.0:0.642:0.0	rs9830734;rs61289304;rs9830734	83;83;83	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	V	83	ENSP00000287546:I83V;ENSP00000397879:I83V;ENSP00000404704:I83V;ENSP00000405483:I83V;ENSP00000415161:I83V;ENSP00000389480:I83V;ENSP00000409957:I83V;ENSP00000416150:I83V	ENSP00000287546:I83V	I	+	1	0	VPS8	186033195	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	0.871000	0.28023	0.093000	0.17368	-1.861000	0.00560	ATT	A|0.480;G|0.520	0.520	strong		0.348	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		G	184550501	A	G	184550501	3	3	22	1	0	0	0	0	1	0	0	0	17215	449	16	2	257	2	VPS8	3	184550501	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	251334	184550501	13471929	2423	7531										
VPS8	23355	hgsc.bcm.edu	37	chr3	184573555	184573555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtagcagtacaaaattaCgtgaatcccatgcttgcctt	7	9	0	1	rs6443999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184573555C>T	ENST00000437079.3	+	14	1263	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	VPS8_ENST00000436792.2_Silent_p.Y362Y|VPS8_ENST00000287546.4_Silent_p.Y364Y|VPS8_ENST00000446204.2_Silent_p.Y362Y	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	364							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TACAAAATTACGTGAATCCCA	0.383													T|||	2776	0.554313	0.6755	0.4611	5008	,	,		19524	0.6587		0.3559	False		,,,				2504	0.5532				p.Y364Y		Atlas-SNP	.											.	VPS8	109	.	0			c.C1092T						PASS	.	T	,	2329,1489		698,933,278	211	206	207		1092,1086	-0.8	0.6	3	dbSNP_116	207	2693,5563		449,1795,1884	no	coding-synonymous,coding-synonymous	VPS8	NM_001009921.2,NM_015303.3	,	1147,2728,2162	TT,TC,CC		32.6187,38.9995,41.5935	,	364/1429,362/1427	184573555	5022,7052	1909	4128	6037	SO:0001819	synonymous_variant	23355	exon13			AAATTACGTGAAT	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1092C>T	3.37:g.184573555C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	145	77	0.531034	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	CCDS46971.1																																																																																			C|0.471;T|0.529	0.529	strong		0.383	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		T	184573555	C	T	184573555	2	4	22	1	0	0	0	0	0	0	0	1	17215	547	19	1		1	VPS8	3	184573555	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23054	184573555	13448875	2424	7532										
VPS8	23355	hgsc.bcm.edu	37	chr3	184573603	184573603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatgttgttcattttctAttggtaagtcctaatatgac	9	5	2	2	rs16859356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184573603A>G	ENST00000437079.3	+	14	1311	c.1140A>G	c.(1138-1140)ctA>ctG	p.L380L	VPS8_ENST00000436792.2_Silent_p.L378L|VPS8_ENST00000287546.4_Silent_p.L380L|VPS8_ENST00000446204.2_Silent_p.L378L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	380							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTCATTTTCTATTGGTAAGTC	0.378													A|||	145	0.0289537	0.1051	0.0086	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0				p.L380L		Atlas-SNP	.											.	VPS8	109	.	0			c.A1140G						PASS	.	A	,	311,3443		12,287,1578	178	169	172		1140,1134	-6	0.5	3	dbSNP_123	172	6,8222		0,6,4108	no	coding-synonymous,coding-synonymous	VPS8	NM_001009921.2,NM_015303.3	,	12,293,5686	GG,GA,AA		0.0729,8.2845,2.6456	,	380/1429,378/1427	184573603	317,11665	1877	4114	5991	SO:0001819	synonymous_variant	23355	exon13			TTTTCTATTGGTA	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1140A>G	3.37:g.184573603A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	120	69	0.575	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	CCDS46971.1																																																																																			A|0.971;G|0.029	0.029	strong		0.378	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		G	184573603	A	G	184573603	2	3	22	1	0	0	0	0	0	0	0	1	17215	436	16	2		2	VPS8	3	184573603	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48	184573603	13448827	2425	7533										
C3orf70	285382	hgsc.bcm.edu	37	chr3	184801099	184801099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgtgggaatgtggtgccGgctgcttctgcacataacac	12	10	2	0	rs61747892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184801099G>A	ENST00000335012.2	-	2	639	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	150										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ATGTGGTGCCGGCTGCTTCTG	0.438													G|||	132	0.0263578	0.0953	0.0072	5008	,	,		20751	0.0		0.001	False		,,,				2504	0.0				p.P150L		Atlas-SNP	.											C3orf70,colon,carcinoma,+1,1	C3orf70	29	1	0			c.C449T						scavenged	.	G	LEU/PRO	310,4096	166.5+/-197.7	11,288,1904	93	89	90		449	2.4	0.7	3	dbSNP_129	90	4,8596	3.0+/-9.4	0,4,4296	yes	missense	C3orf70	NM_001025266.1	98	11,292,6200	AA,AG,GG		0.0465,7.0359,2.4143	benign	150/251	184801099	314,12692	2203	4300	6503	SO:0001583	missense	285382	exon2			GGTGCCGGCTGCT		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.449C>T	3.37:g.184801099G>A	ENSP00000334974:p.Pro150Leu	Somatic	193	1	0.00518135		WXS	Illumina HiSeq	Phase_I	193	92	0.476684	NM_001025266	B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	46	0.021062271062271064	41	0.08333333333333333	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	13.41	2.229873	0.39399	0.070359	4.65E-4	ENSG00000187068	ENST00000335012	.	.	.	5.28	2.44	0.29823	.	0.223003	0.46758	N	0.000268	T	0.02571	0.0078	L	0.27053	0.805	0.51767	D	0.99993	B	0.06786	0.001	B	0.04013	0.001	T	0.02958	-1.1089	9	0.72032	D	0.01	.	5.8005	0.18412	0.2262:0.0:0.6363:0.1375	.	150	A6NLC5	CC070_HUMAN	L	150	.	ENSP00000334974:P150L	P	-	2	0	C3orf70	186283793	0.939000	0.31865	0.741000	0.31004	0.927000	0.56198	2.310000	0.43708	0.197000	0.20387	0.655000	0.94253	CCG	G|0.972;A|0.028	0.028	strong		0.438	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		A	184801099	G	A	184801099	3	1	22	1	0	0	0	0	1	0	0	0	2242	1116	39	1	307	1	C3orf70	3	184801099	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	227496	184801099	13221331	2426	7534										
EHHADH	1962	hgsc.bcm.edu	37	chr3	184910042	184910042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgctaggggagcctgccAagctttgccattctttcagg	11	11	2	0	rs11927618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184910042A>G	ENST00000231887.3	-	7	2219	c.2144T>C	c.(2143-2145)tTg>tCg	p.L715S	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.L619S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	715			L -> S (in dbSNP:rs11927618).		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)			GGAGCCTGCCAAGCTTTGCCA	0.438													A|||	136	0.0271565	0.0976	0.0086	5008	,	,		19259	0.0		0.001	False		,,,				2504	0.0				p.L715S		Atlas-SNP	.											.	EHHADH	73	.	0			c.T2144C						PASS	.	A	SER/LEU,SER/LEU	328,4078	169.1+/-199.8	18,292,1893	71	77	75		1856,2144	5.9	1	3	dbSNP_120	75	2,8598		0,2,4298	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	145,145	18,294,6191	GG,GA,AA		0.0233,7.4444,2.5373	possibly-damaging,possibly-damaging	619/628,715/724	184910042	330,12676	2203	4300	6503	SO:0001583	missense	1962	exon7			CCTGCCAAGCTTT	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.2144T>C	3.37:g.184910042A>G	ENSP00000231887:p.Leu715Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	128	67	0.523438	NM_001966	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	42	0.019230769230769232	38	0.07723577235772358	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	A	14.60	2.584965	0.46110	0.074444	2.33E-4	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.75050	-0.49;-0.9	5.91	5.91	0.95273	.	0.563402	0.17628	N	0.167493	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	P	0.48834	0.916	B	0.41988	0.372	T	0.16571	-1.0398	10	0.33940	T	0.23	-11.2071	11.1978	0.48724	0.8307:0.0:0.0:0.1693	rs11927618;rs11927618	715	Q08426	ECHP_HUMAN	S	715;619	ENSP00000231887:L715S;ENSP00000387746:L619S	ENSP00000231887:L715S	L	-	2	0	EHHADH	186392736	0.991000	0.36638	0.998000	0.56505	0.771000	0.43674	2.683000	0.46943	2.254000	0.74563	0.533000	0.62120	TTG	A|0.975;G|0.025	0.025	strong		0.438	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			G	184910042	A	G	184910042	3	3	22	1	0	0	0	0	1	0	0	0	4982	131	5	2	31	2	EHHADH	3	184910042	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	108943	184910042	13112388	2427	7535										
EHHADH	1962	hgsc.bcm.edu	37	chr3	184922267	184922267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgatgctccggagggagTtgaccacttatttgctttcc	10	12	0	1	rs115754857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:184922267T>C	ENST00000231887.3	-	6	922	c.847A>G	c.(847-849)Act>Gct	p.T283A	EHHADH_ENST00000456310.1_Missense_Mutation_p.T187A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	283	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)			CCGGAGGGAGTTGACCACTTA	0.488													T|||	82	0.0163738	0.0605	0.0029	5008	,	,		21681	0.0		0.0	False		,,,				2504	0.0				p.T283A		Atlas-SNP	.											.	EHHADH	73	.	0			c.A847G						PASS	.	T	ALA/THR,ALA/THR	170,4236	112.1+/-150.2	3,164,2036	121	118	119		559,847	1.6	0.4	3	dbSNP_132	119	0,8600		0,0,4300	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	58,58	3,164,6336	CC,CT,TT		0.0,3.8584,1.3071	benign,benign	187/628,283/724	184922267	170,12836	2203	4300	6503	SO:0001583	missense	1962	exon6			AGGGAGTTGACCA	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.847A>G	3.37:g.184922267T>C	ENSP00000231887:p.Thr283Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	56	21	0.375	NM_001966	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	T	7.470	0.646535	0.14451	0.038584	0.0	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.74526	-0.44;-0.85	5.53	1.61	0.23674	.	0.442567	0.26761	N	0.022621	T	0.21674	0.0522	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.15492	-1.0435	10	0.35671	T	0.21	-3.3999	1.5805	0.02633	0.1344:0.1596:0.1395:0.5665	.	283	Q08426	ECHP_HUMAN	A	283;283;187	ENSP00000231887:T283A;ENSP00000387746:T187A	ENSP00000231887:T283A	T	-	1	0	EHHADH	186404961	0.100000	0.21855	0.382000	0.26119	0.937000	0.57800	1.287000	0.33284	0.035000	0.15519	-0.309000	0.09137	ACT	T|0.986;C|0.014	0.014	strong		0.488	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			C	184922267	T	C	184922267	3	2	22	1	0	0	0	0	1	0	0	0	4982	1725	60	2	1332	2	EHHADH	3	184922267	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12225	184922267	13100163	2428	7536										
AHSG	197	hgsc.bcm.edu	37	chr3	186338634	186338634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgcacccccggaaaacacGcacagtggtgcagcctagtg	12	14	0	0	rs77385737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186338634G>A	ENST00000273784.5	+	7	1098	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	AHSG_ENST00000411641.2_Missense_Mutation_p.R340H	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	340					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CGGAAAACACGCACAGTGGTG	0.602													.|||	17	0.00339457	0.0121	0.0	5008	,	,		21835	0.0		0.001	False		,,,				2504	0.0				p.R340H		Atlas-SNP	.											AHSG,NS,carcinoma,+1,1	AHSG	40	1	0			c.G1019A						scavenged	.	G	HIS/ARG	59,4347	58.1+/-94.6	1,57,2145	81	77	79		1019	1.7	0	3	dbSNP_132	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AHSG	NM_001622.2	29	1,59,6443	AA,AG,GG		0.0233,1.3391,0.469	probably-damaging	340/368	186338634	61,12945	2203	4300	6503	SO:0001583	missense	197	exon7			AAACACGCACAGT	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.1022G>A	3.37:g.186338634G>A	ENSP00000273784:p.Arg341His	Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	169	86	0.508876	NM_001622	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	g	9.995	1.232001	0.22626	0.013391	2.33E-4	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05258	3.47;3.47	4.63	1.7	0.24286	.	0.972799	0.08447	N	0.944617	T	0.04634	0.0126	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.0;0.0	T	0.38436	-0.9661	10	0.44086	T	0.13	-0.6739	7.4138	0.27032	0.3211:0.508:0.1709:0.0	.	406;340;341	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	H	340;406;341	ENSP00000393887:R340H;ENSP00000273784:R341H	ENSP00000273784:R341H	R	+	2	0	AHSG	187821328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.305000	0.08188	0.216000	0.20781	-0.344000	0.07964	CGC	G|0.996;A|0.004	0.004	strong		0.602	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		A	186338634	G	A	186338634	3	1	22	1	0	0	0	0	1	0	0	0	420	1087	38	1	1045	1	AHSG	3	186338634	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1416367	186338634	11683796	2429	7537										
KNG1	3827	hgsc.bcm.edu	37	chr3	186459475	186459475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcatactcgtagacatgaCtggggccatgaaaaacaaag	12	8	0	3	rs5030084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186459475C>G	ENST00000265023.4	+	10	1502	c.1290C>G	c.(1288-1290)gaC>gaG	p.D430E	RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	430	His-rich.		D -> E (in dbSNP:rs5030084).		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GTAGACATGACTGGGGCCATG	0.483													C|||	166	0.033147	0.0613	0.0375	5008	,	,		21946	0.0129		0.0258	False		,,,				2504	0.0204				p.D430E		Atlas-SNP	.											.	KNG1	129	.	0			c.C1290G						PASS	.	C	,GLU/ASP,	270,4096		4,262,1917	100	101	101		,1290,	3	0.7	3	dbSNP_113	101	239,8339		5,229,4055	yes	intron,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,45,	9,491,5972	GG,GC,CC		2.7862,6.1842,3.9323	,benign,	,430/645,	186459475	509,12435	2183	4289	6472	SO:0001583	missense	3827	exon10			ACATGACTGGGGC		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1290C>G	3.37:g.186459475C>G	ENSP00000265023:p.Asp430Glu	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	48	0.403361	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	70	0.03205128205128205	26	0.052845528455284556	17	0.04696132596685083	7	0.012237762237762238	20	0.026385224274406333	C	11.14	1.549816	0.27652	0.061842	0.027862	ENSG00000113889	ENST00000265023	T	0.58210	0.35	4.79	2.98	0.34508	.	0.379044	0.23049	N	0.052505	T	0.04907	0.0132	L	0.46157	1.445	0.80722	D	1	P	0.42827	0.791	B	0.31946	0.138	T	0.00995	-1.1487	9	.	.	.	-0.6577	6.9085	0.24323	0.0:0.7335:0.1741:0.0924	rs5030084;rs52817760;rs61657557;rs5030084	430	P01042	KNG1_HUMAN	E	430	ENSP00000265023:D430E	.	D	+	3	2	KNG1	187942169	0.988000	0.35896	0.682000	0.30024	0.381000	0.30169	-0.157000	0.10085	0.923000	0.37045	0.655000	0.94253	GAC	C|0.964;G|0.036	0.036	strong		0.483	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		G	186459475	C	G	186459475	3	3	22	1	0	0	0	0	1	0	0	0	8427	564	20	4	1328	4	KNG1	3	186459475	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	120841	186459475	11562955	2430	7538										
KNG1	3827	hgsc.bcm.edu	37	chr3	186459646	186459646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgatcttgaacaccaaggGggccatgtccttgaccatgg	12	10	1	3	rs5030085	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186459646G>A	ENST00000265023.4	+	10	1673	c.1461G>A	c.(1459-1461)ggG>ggA	p.G487G	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	487	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AACACCAAGGGGGCCATGTCC	0.448													G|||	166	0.033147	0.0613	0.0375	5008	,	,		24917	0.0129		0.0258	False		,,,				2504	0.0204				p.G487G		Atlas-SNP	.											.	KNG1	129	.	0			c.G1461A						PASS	.	G	,,	242,3822		2,238,1792	61	58	59		,1461,	-3.8	0	3	dbSNP_113	59	231,8101		5,221,3940	no	intron,coding-synonymous,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,,	7,459,5732	AA,AG,GG		2.7724,5.9547,3.8157	,,	,487/645,	186459646	473,11923	2032	4166	6198	SO:0001819	synonymous_variant	3827	exon10			CCAAGGGGGCCAT		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1461G>A	3.37:g.186459646G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	73	39	0.534247	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	CCDS43183.1																																																																																			G|0.965;A|0.035	0.035	strong		0.448	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		A	186459646	G	A	186459646	2	1	22	1	0	0	0	0	0	0	0	1	8427	1219	43	2		2	KNG1	3	186459646	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	171	186459646	11562784	2431	7539										
KNG1	3827	hgsc.bcm.edu	37	chr3	186459775	186459775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcaagctcttctgaagaCagtactacaccttctgcaca	7	12	3	2	rs5030086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186459775C>T	ENST00000265023.4	+	10	1802	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	530					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CTTCTGAAGACAGTACTACAC	0.443													T|||	166	0.033147	0.0613	0.0375	5008	,	,		24246	0.0129		0.0258	False		,,,				2504	0.0204				p.D530D		Atlas-SNP	.											.	KNG1	129	.	0			c.C1590T						PASS	.	T	,,	230,3702		4,222,1740	77	73	74		,1590,	-6.8	0	3	dbSNP_113	74	230,8070		5,220,3925	no	intron,coding-synonymous,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,,	9,442,5665	TT,TC,CC		2.7711,5.8494,3.7606	,,	,530/645,	186459775	460,11772	1966	4150	6116	SO:0001819	synonymous_variant	3827	exon10			TGAAGACAGTACT		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1590C>T	3.37:g.186459775C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	129	63	0.488372	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	CCDS43183.1																																																																																			C|0.965;T|0.035	0.035	strong		0.443	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186459775	C	T	186459775	2	4	22	1	0	0	0	0	0	0	0	1	8427	477	17	2		2	KNG1	3	186459775	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129	186459775	11562655	2432	7540										
KNG1	3827	hgsc.bcm.edu	37	chr3	186460110	186460110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatttcgatctcactgatgGcctttcttaatttaagtggc	7	8	2	1	rs5030087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186460110G>C	ENST00000265023.4	+	10	2137	c.1925G>C	c.(1924-1926)gGc>gCc	p.G642A	RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	642			G -> A (in dbSNP:rs5030087).		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CTCACTGATGGCCTTTCTTAA	0.368													C|||	176	0.0351438	0.0643	0.0389	5008	,	,		22051	0.0129		0.0258	False		,,,				2504	0.0256				p.G642A		Atlas-SNP	.											.	KNG1	129	.	0			c.G1925C						PASS	.	C	,ALA/GLY,	224,3414		3,218,1598	82	78	80		,1925,	4.4	0.6	3	dbSNP_113	80	247,7915		6,235,3840	yes	intron,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,60,	9,453,5438	CC,CG,GG		3.0262,6.1572,3.9915	,benign,	,642/645,	186460110	471,11329	1819	4081	5900	SO:0001583	missense	3827	exon10			CTGATGGCCTTTC		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1925G>C	3.37:g.186460110G>C	ENSP00000265023:p.Gly642Ala	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	76	0.0347985347985348	31	0.06300813008130081	18	0.049723756906077346	7	0.012237762237762238	20	0.026385224274406333	C	0.007	-1.957041	0.00465	0.061572	0.030262	ENSG00000113889	ENST00000265023	T	0.06933	3.24	5.28	4.4	0.53042	.	0.000000	0.48286	N	0.000184	T	0.00300	0.0009	N	0.00321	-1.65	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48019	-0.9071	9	.	.	.	-5.3869	12.741	0.57253	0.0:0.685:0.315:0.0	rs5030087;rs52826965;rs60387045;rs5030087	642	P01042	KNG1_HUMAN	A	642	ENSP00000265023:G642A	.	G	+	2	0	KNG1	187942804	0.485000	0.25972	0.616000	0.29078	0.006000	0.05464	0.651000	0.24873	0.732000	0.32470	-0.215000	0.12644	GGC	G|0.963;C|0.037	0.037	strong		0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		C	186460110	G	C	186460110	3	2	22	1	0	0	0	0	1	0	0	0	8427	1203	42	4	1963	4	KNG1	3	186460110	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	335	186460110	11562320	2433	7541										
ADIPOQ	9370	hgsc.bcm.edu	37	chr3	186570892	186570892	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctattagctctgcccggTcatgaccaggaaaccacgac	9	14	2	1	rs2241766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186570892T>G	ENST00000412955.2	+	2	186	c.45T>G	c.(43-45)ggT>ggG	p.G15G	ADIPOQ_ENST00000320741.2_Silent_p.G15G|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Silent_p.G15G			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	15					adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CTCTGCCCGGTCATGACCAGG	0.622													T|||	758	0.151358	0.0356	0.1859	5008	,	,		17033	0.2986		0.1322	False		,,,				2504	0.1513				p.G15G		Atlas-SNP	.											ADIPOQ,colon,carcinoma,+2,2	ADIPOQ	35	2	0			c.T45G	GRCh37	CM032392	ADIPOQ	M	rs2241766	PASS	.	T	,	212,4194	128.6+/-165.4	5,202,1996	88	81	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	45,45	-1.2	0	3	dbSNP_98	84	991,7609	214.5+/-254.1	64,863,3373	no	coding-synonymous,coding-synonymous	ADIPOQ	NM_001177800.1,NM_004797.3	,	69,1065,5369	GG,GT,TT		11.5233,4.8116,9.2496	,	15/245,15/245	186570892	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	9370	exon3			GCCCGGTCATGAC	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"Endogenous ligands"	13633	protein-coding gene	gene with protein product	"adipose most abundant gene transcript 1", "adiponectin precursor"	605441	"adipocyte, C1Q and collagen domain containing"	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.45T>G	3.37:g.186570892T>G		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	305	144	0.472131	NM_001177800	Q58EX9	Silent	SNP	ENST00000412955.2	37	CCDS3284.1																																																																																			T|0.885;G|0.115	0.115	strong		0.622	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		G	186570892	T	G	186570892	2	3	22	1	0	0	0	0	0	0	0	1	317	1654	58	5		5	ADIPOQ	3	186570892	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110782	186570892	11451538	2434	7542										
ADIPOQ	9370	hgsc.bcm.edu	37	chr3	186570951	186570951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcccctgcccaagggggCctgcacaggttggatggcgg	16	13	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186570951C>T	ENST00000412955.2	+	2	245	c.104C>T	c.(103-105)gCc>gTc	p.A35V	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.A35V|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.A35V			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	35					adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CCCAAGGGGGCCTGCACAGGT	0.627																																					p.A35V		Atlas-SNP	.											.	ADIPOQ	35	.	0			c.C104T						PASS	.						51	52	51					3																	186570951		2203	4300	6503	SO:0001583	missense	9370	exon3			AGGGGGCCTGCAC	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"Endogenous ligands"	13633	protein-coding gene	gene with protein product	"adipose most abundant gene transcript 1", "adiponectin precursor"	605441	"adipocyte, C1Q and collagen domain containing"	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.104C>T	3.37:g.186570951C>T	ENSP00000405611:p.Ala35Val	Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	241	128	0.53112	NM_001177800	Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627218	0.46944	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.90676	-2.71;-2.71;-2.71	5.21	0.744	0.18353	.	0.825880	0.10698	N	0.644378	T	0.80396	0.4615	N	0.24115	0.695	0.19300	N	0.999976	B	0.06786	0.001	B	0.08055	0.003	T	0.64326	-0.6434	10	0.27082	T	0.32	.	4.1548	0.10256	0.139:0.4701:0.2975:0.0934	.	35	Q15848	ADIPO_HUMAN	V	35	ENSP00000405611:A35V;ENSP00000320709:A35V;ENSP00000389814:A35V	ENSP00000320709:A35V	A	+	2	0	ADIPOQ	188053645	0.068000	0.21057	0.807000	0.32361	0.936000	0.57629	1.784000	0.38674	0.213000	0.20722	0.655000	0.94253	GCC	.	.	none		0.627	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		T	186570951	C	T	186570951	3	4	22	1	0	0	0	0	1	0	0	0	317	739	26	2	106	2	ADIPOQ	3	186570951	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59	186570951	11451479	2435	7543										
ST6GAL1	6480	hgsc.bcm.edu	37	chr3	186793423	186793423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccaagcgcaagactgaCgtgtgctactactaccagaa	8	13	0	3	rs7629263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186793423C>T	ENST00000169298.3	+	8	1727	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	ST6GAL1_ENST00000448044.1_Silent_p.D351D|ST6GAL1_ENST00000457772.2_Silent_p.D120D	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	351					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GCAAGACTGACGTGTGCTACT	0.507													C|||	382	0.076278	0.2005	0.1124	5008	,	,		20306	0.0089		0.001	False		,,,				2504	0.0297				p.D351D		Atlas-SNP	.											.	ST6GAL1	36	.	0			c.C1053T						PASS	.	C	,,	799,3607	321.5+/-297.2	68,663,1472	147	121	130		1053,1053,360	-9.7	0	3	dbSNP_116	130	31,8569	20.4+/-63.3	0,31,4269	no	coding-synonymous,coding-synonymous,coding-synonymous	ST6GAL1	NM_003032.2,NM_173216.2,NM_173217.2	,,	68,694,5741	TT,TC,CC		0.3605,18.1344,6.3817	,,	351/407,351/407,120/176	186793423	830,12176	2203	4300	6503	SO:0001819	synonymous_variant	6480	exon7			GACTGACGTGTGC	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1053C>T	3.37:g.186793423C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	192	87	0.453125	NM_003032	A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																			C|0.922;T|0.078	0.078	strong		0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		T	186793423	C	T	186793423	2	4	22	1	0	0	0	0	0	0	0	1	15220	535	19	1		1	ST6GAL1	3	186793423	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	222472	186793423	11229007	2436	7544										
MASP1	5648	hgsc.bcm.edu	37	chr3	186954324	186954324	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatgatcctcttgaccagGcttggcagggagcgggaggg	16	10	1	2	rs3774268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:186954324G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Silent_p.S332S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.S445S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTTGACCAGGCTTGGCAGGG	0.587													G|||	760	0.151757	0.202	0.1311	5008	,	,		19267	0.1319		0.1531	False		,,,				2504	0.1176				p.S445S		Atlas-SNP	.											.	MASP1	240	.	0			c.C1335T						PASS	.	G	,	835,3571	327.2+/-299.9	77,681,1445	90	92	91		,1335	5.2	1	3	dbSNP_107	91	1177,7423	236.8+/-268.9	85,1007,3208	no	intron,coding-synonymous	MASP1	NM_001879.5,NM_139125.3	,	162,1688,4653	AA,AG,GG		13.686,18.9514,15.4698	,	,445/729	186954324	2012,10994	2203	4300	6503	SO:0001627	intron_variant	5648	exon11			GACCAGGCTTGGC	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+4944C>T	3.37:g.186954324G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	131	56	0.427481	NM_139125	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																			G|0.853;A|0.147	0.147	strong		0.587	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186954324	G	A	186954324	1	1	22	0	1	0	0	0	0	0	0	0	9322	1194	42	2		2	MASP1	3	186954324	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160901	186954324	11068106	2437	7545										
LPP	4026	hgsc.bcm.edu	37	chr3	188326955	188326955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctattctttttagagctccActggttcaacagcctctcct	5	14	3	1	rs35417432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:188326955A>G	ENST00000312675.4	+	6	682	c.436A>G	c.(436-438)Act>Gct	p.T146A	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.T146A|LPP_ENST00000543006.1_Missense_Mutation_p.T146A	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	146	Pro-rich.		T -> A (in dbSNP:rs35417432).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTAGAGCTCCACTGGTTCAAC	0.388			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								A|||	270	0.0539137	0.1899	0.0231	5008	,	,		16335	0.0		0.003	False		,,,				2504	0.0				p.T146A		Atlas-SNP	.		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	.	LPP	72	.	0			c.A436G						PASS	.	A	ALA/THR,ALA/THR,ALA/THR	779,3627	315.2+/-294.0	66,647,1490	96	96	96		436,436,436	-2.5	0.2	3	dbSNP_126	96	10,8590	5.0+/-18.6	0,10,4290	yes	missense,missense,missense	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	58,58,58	66,657,5780	GG,GA,AA		0.1163,17.6804,6.0664	benign,benign,benign	146/613,146/466,146/613	188326955	789,12217	2203	4300	6503	SO:0001583	missense	4026	exon6			AGCTCCACTGGTT	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.436A>G	3.37:g.188326955A>G	ENSP00000318089:p.Thr146Ala	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	109	46	0.422018	NM_005578	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	99	0.04532967032967033	89	0.18089430894308944	9	0.024861878453038673	0	0.0	1	0.0013192612137203166	A	3.408	-0.120818	0.06838	0.176804	0.001163	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000312675;ENST00000543006	T;T;T;T	0.52057	2.06;1.09;0.68;0.68	5.64	-2.45	0.06481	.	0.868823	0.09583	N	0.782522	T	0.00039	0.0001	N	0.11560	0.145	0.80722	P	0.0	B;B;B	0.15930	0.015;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.0	T	0.35001	-0.9806	9	0.07482	T	0.82	.	15.6517	0.77099	0.2645:0.0:0.7355:0.0	rs35417432	146;146;146	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	A	146	ENSP00000393602:T146A;ENSP00000410340:T146A;ENSP00000318089:T146A;ENSP00000438891:T146A	ENSP00000318089:T146A	T	+	1	0	LPP	189809649	0.000000	0.05858	0.211000	0.23655	0.179000	0.23085	-0.288000	0.08377	-0.925000	0.03775	0.533000	0.62120	ACT	A|0.939;G|0.061	0.061	strong		0.388	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		G	188326955	A	G	188326955	3	3	22	1	0	0	0	0	1	0	0	0	8923	159	6	2	450	2	LPP	3	188326955	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1372631	188326955	9695475	2438	7546										
LPP	4026	hgsc.bcm.edu	37	chr3	188327461	188327461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggcagaaatgactctgaCcctacctatggtcaacaagg	12	10	2	3	rs1059380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:188327461C>T	ENST00000312675.4	+	6	1188	c.942C>T	c.(940-942)gaC>gaT	p.D314D	LPP_ENST00000543006.1_Silent_p.D314D|LPP_ENST00000448637.1_Silent_p.D314D|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	314	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ATGACTCTGACCCTACCTATG	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T|||	2937	0.586462	0.7322	0.5591	5008	,	,		18456	0.4355		0.5726	False		,,,				2504	0.5787				p.D314D		Atlas-SNP	.		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	.	LPP	72	.	0			c.C942T						PASS	.	T	,,	3082,1324	443.9+/-347.2	1084,914,205	64	59	61		942,,942	-1.5	0.8	3	dbSNP_86	61	5048,3552	516.5+/-378.8	1489,2070,741	no	coding-synonymous,intron,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	2573,2984,946	TT,TC,CC		41.3023,30.0499,37.4904	,,	314/613,,314/613	188327461	8130,4876	2203	4300	6503	SO:0001819	synonymous_variant	4026	exon6			CTCTGACCCTACC	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.942C>T	3.37:g.188327461C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_005578	A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	CCDS3291.1																																																																																			C|0.403;T|0.597	0.597	strong		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		T	188327461	C	T	188327461	2	4	22	1	0	0	0	0	0	0	0	1	8923	506	18	2		2	LPP	3	188327461	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	506	188327461	9694969	2439	7547										
LPP	4026	hgsc.bcm.edu	37	chr3	188327555	188327555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagaaccctcctgggatgTatccagtcactggtcccaag	9	14	1	1	rs7645635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:188327555T>C	ENST00000312675.4	+	6	1282	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	LPP_ENST00000543006.1_Missense_Mutation_p.Y346H|LPP_ENST00000448637.1_Missense_Mutation_p.Y346H|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	346	Pro-rich.		Y -> H (in dbSNP:rs7645635).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTGGGATGTATCCAGTCAC	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T|||	1002	0.20008	0.7126	0.0764	5008	,	,		18753	0.0		0.005	False		,,,				2504	0.002				p.Y346H		Atlas-SNP	.		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	.	LPP	72	.	0			c.T1036C						PASS	.	T	HIS/TYR,,HIS/TYR	2581,1825		769,1043,391	42	42	42		1036,,1036	6.2	0.9	3	dbSNP_116	42	34,8564		0,34,4265	yes	missense,intron,missense	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	83,,83	769,1077,4656	CC,CT,TT		0.3954,41.4208,20.1092	probably-damaging,,probably-damaging	346/613,,346/613	188327555	2615,10389	2203	4299	6502	SO:0001583	missense	4026	exon6			GGGATGTATCCAG	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1036T>C	3.37:g.188327555T>C	ENSP00000318089:p.Tyr346His	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	111	52	0.468468	NM_005578	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	360	0.16483516483516483	328	0.6666666666666666	28	0.07734806629834254	0	0.0	4	0.005277044854881266	T	16.16	3.043406	0.55003	0.585792	0.003954	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54866	1.79;0.55;0.55;1.41	6.17	6.17	0.99709	.	0.188754	0.37348	N	0.002140	T	0.00012	0.0000	M	0.66939	2.045	0.22050	P	0.999392708	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.965	T	0.47611	-0.9104	9	0.15499	T	0.54	.	16.0034	0.80327	0.0:0.0:0.0:1.0	rs7645635;rs52823079;rs57290235;rs7645635	346;346	C9JUT4;Q93052	.;LPP_HUMAN	H	346;346;346;183	ENSP00000393602:Y346H;ENSP00000318089:Y346H;ENSP00000438891:Y346H;ENSP00000393008:Y183H	ENSP00000318089:Y346H	Y	+	1	0	LPP	189810249	1.000000	0.71417	0.850000	0.33497	0.194000	0.23727	5.358000	0.66064	2.371000	0.80710	0.533000	0.62120	TAT	T|0.786;C|0.214	0.214	strong		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		C	188327555	T	C	188327555	3	2	22	1	0	0	0	0	1	0	0	0	8923	1638	57	2	1050	2	LPP	3	188327555	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	94	188327555	9694875	2440	7548										
CLDN16	10686	hgsc.bcm.edu	37	chr3	190106072	190106072	+	Frame_Shift_Del	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccacttaagtggggccaGggctggtgtctgcccatgtt					rs386669518|rs201380153|rs56086318|rs368234054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:190106072delG	ENST00000264734.2	+	1	412	c.164delG	c.(163-165)aggfs	p.R55fs	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Frame_Shift_Del_p.R55fs	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	55					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGTGGGGCCAGGGCTGGTGTC	0.512													GGG|GGG|GG|deletion	586	0.117013	0.0681	0.1455	5008	,	,		21539	0.0208		0.2336	False		,,,				2504	0.1421				p.R55fs		Atlas-Indel	.											.	CLDN16	59	.	0			c.163delA						PASS	.						145	107	120					3																	190106072		2203	4291	6494	SO:0001589	frameshift_variant	10686	exon1			.	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.164delG	3.37:g.190106072delG	ENSP00000264734:p.Arg55fs	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	235	101	0.429787	NM_006580		Frame_Shift_Del	DEL	ENST00000264734.2	37	CCDS3296.1																																																																																			.	.	strong		0.512	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		-	190106072	G	-	190106072	7	5	22	1	0	1	0	1	0	0	0	0	3477	1000	35	0	166	0	CLDN16	3	190106072	Frame_Shift_Del	DEL	G	TCGA-G8-6324-01A-11D-2210-10	1778517	190106072	7916358	2441	7549	145	3								
CLDN16	10686	hgsc.bcm.edu	37	chr3	190106073	190106074	+	Frame_Shift_Del	DEL	GG	GG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccacttaagtggggccagGgctggtgtctgcccatgttg					rs386669518|rs3214506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:190106073_190106074delGG	ENST00000264734.2	+	1	413_414	c.165_166delGG	c.(163-168)agggctfs	p.RA55fs	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Frame_Shift_Del_p.RA55fs	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	55					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTGGGGCCAGGGCTGGTGTCTG	0.505																																					p.55_55del		Pindel	.											.	CLDN16	59	.	0			c.164_165del	GRCh37	CX001601	CLDN16	X		PASS	.																																			SO:0001589	frameshift_variant	10686	exon1			.	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.165_166delGG	3.37:g.190106073_190106074delGG	ENSP00000264734:p.Arg55fs	Somatic	205	.	.		WXS	Illumina HiSeq	Phase_I	238	38	0.16	NM_006580		Frame_Shift_Del	DEL	ENST00000264734.2	37	CCDS3296.1																																																																																			.	.	none		0.505	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		-	190106074	GG	-	190106073	7	5	22	1	0	1	0	1	0	0	0	0	3477	1223	43	0	167	0	CLDN16	3	190106073	Frame_Shift_Del	DEL	GG	TCGA-G8-6324-01A-11D-2210-10	1	190106073	7916357	2442	7550	145	3								
CLDN16	10686	hgsc.bcm.edu	37	chr3	190106074	190106074	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacttaagtggggccaggGctggtgtctgcccatgttgc					rs386669518|rs3214506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:190106074G>C	ENST00000264734.2	+	1	414	c.166G>C	c.(166-168)Gct>Cct	p.A56P	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.A56P	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	56					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGGGGCCAGGGCTGGTGTCTG	0.507													G|||	586	0.117013	0.0681	0.1455	5008	,	,		20600	0.0208		0.2336	False		,,,				2504	0.1421				p.A56P		Atlas-SNP	.											.	CLDN16	59	.	0			c.G166C						PASS	.						161	140	147					3																	190106074		2203	4300	6503	SO:0001583	missense	10686	exon1			GCCAGGGCTGGTG	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.166G>C	3.37:g.190106074G>C	ENSP00000264734:p.Ala56Pro	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	239	106	0.443515	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	6.438	0.448874	0.12223	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93659	-2.9;-3.26	5.39	-3.93	0.04143	.	1.665760	0.03286	N	0.186971	D	0.84234	0.5427	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.70167	-0.4946	10	0.36615	T	0.2	-13.3321	0.4429	0.00489	0.347:0.1211:0.2211:0.3108	.	56;56	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	P	56	ENSP00000264734:A56P;ENSP00000414136:A56P	ENSP00000264734:A56P	A	+	1	0	CLDN16	191588768	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.121000	0.10643	-0.435000	0.07264	-0.535000	0.04281	GCT	G|0.753;C|0.247	0.247	strong		0.507	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		C	190106074	G	C	190106074	3	2	22	1	0	0	0	0	1	0	0	0	3477	1203	42	4	168	4	CLDN16	3	190106074	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	190106074	7916356	2443	7551	145	3								
FGF12	2257	hgsc.bcm.edu	37	chr3	192078253	192078253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttggtcccatcaatggTaccatctgggtgcatctgca	10	12	3	0	rs142373936		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:192078253T>C	ENST00000454309.2	-	2	1099	c.274A>G	c.(274-276)Acc>Gcc	p.T92A	FGF12_ENST00000264730.3_Missense_Mutation_p.T30A|FGF12_ENST00000445105.2_Missense_Mutation_p.T30A|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Missense_Mutation_p.T30A	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	92					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCATCAATGGTACCATCTGGG	0.408													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19416	0.0		0.0	False		,,,				2504	0.0				p.T92A		Atlas-SNP	.											.	FGF12	88	.	0			c.A274G						PASS	.	T	ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	176	150	159		88,274	3	1	3	dbSNP_134	159	0,8600		0,0,4300	no	missense,missense	FGF12	NM_004113.5,NM_021032.4	58,58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	30/182,92/244	192078253	1,13005	2203	4300	6503	SO:0001583	missense	2257	exon2			CAATGGTACCATC	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.274A>G	3.37:g.192078253T>C	ENSP00000413496:p.Thr92Ala	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	213	92	0.431925	NM_021032	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	CCDS3301.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	13.05	2.121112	0.37436	2.27E-4	0.0	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000448795;ENST00000418610	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.53	3.03	0.35002	.	0.136032	0.64402	N	0.000002	T	0.70657	0.3249	L	0.48935	1.535	0.47441	D	0.999428	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.64846	-0.6311	10	0.42905	T	0.14	.	6.4797	0.22055	0.1389:0.0758:0.0:0.7853	.	30;92	P61328-2;P61328	.;FGF12_HUMAN	A	30;30;30;92;30;6;30	ENSP00000264730:T30A;ENSP00000393686:T30A;ENSP00000413496:T92A;ENSP00000397635:T30A;ENSP00000412904:T6A;ENSP00000395517:T30A	ENSP00000264730:T30A	T	-	1	0	FGF12	193560947	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.860000	0.39428	0.953000	0.37825	0.482000	0.46254	ACC	T|1.000;C|0.000	0.000	strong		0.408	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		C	192078253	T	C	192078253	3	2	22	1	0	0	0	0	1	0	0	0	5841	1638	57	2	473	2	FGF12	3	192078253	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1972179	192078253	5944177	2444	7552										
ATP13A5	344905	hgsc.bcm.edu	37	chr3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacaggaaacttcagtgtgGataagtagaggcagaatacc	11	6	1	2	rs12637558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193081122G>T	ENST00000342358.4	-	3	404	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96			S -> Y (in dbSNP:rs12637558). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S96F(1)|p.S96Y(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													G|||	2083	0.415935	0.2133	0.4337	5008	,	,		18153	0.5764		0.4125	False		,,,				2504	0.5153				p.S96Y		Atlas-SNP	.											ATP13A5,NS,carcinoma,0,2	ATP13A5	171	2	2	Substitution - Missense(2)	ovary(1)|NS(1)	c.C287A						PASS	.	G	TYR/SER	1146,3260	409.1+/-334.9	155,836,1212	98	96	97		287	4.2	1	3	dbSNP_120	97	3666,4934	527.1+/-381.1	807,2052,1441	yes	missense	ATP13A5	NM_198505.2	144	962,2888,2653	TT,TG,GG		42.6279,26.01,36.9983	probably-damaging	96/1219	193081122	4812,8194	2203	4300	6503	SO:0001583	missense	344905	exon3			AGTGTGGATAAGT	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.287C>A	3.37:g.193081122G>T	ENSP00000341942:p.Ser96Tyr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	893	0.4088827838827839	119	0.241869918699187	143	0.39502762430939226	323	0.5646853146853147	308	0.40633245382585753	G	16.92	3.255259	0.59321	0.2601	0.426279	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.44881	0.91;0.91	5.06	4.17	0.49024	.	0.195010	0.36893	N	0.002353	T	0.00012	0.0000	M	0.73962	2.25	0.29320	P	0.867429	P	0.36733	0.567	B	0.41764	0.366	T	0.48980	-0.8986	9	0.59425	D	0.04	-6.0887	13.2983	0.60311	0.0:0.0:0.84:0.16	rs12637558;rs59613984	96	Q4VNC0	AT135_HUMAN	Y	96;118	ENSP00000341942:S96Y;ENSP00000389416:S118Y	ENSP00000341942:S96Y	S	-	2	0	ATP13A5	194563816	1.000000	0.71417	0.987000	0.45799	0.953000	0.61014	3.546000	0.53656	1.428000	0.47296	0.655000	0.94253	TCC	G|0.618;T|0.382	0.382	strong		0.398	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193081122	G	T	193081122	3	4	22	1	0	0	0	0	1	0	0	0	1127	1174	41	4	3479	4	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1002869	193081122	4941308	2445	7553										
ATP13A4	84239	hgsc.bcm.edu	37	chr3	193120459	193120459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcagagttgttcttcattGctctcaaatactggattgct	7	9	4	1	rs9863164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193120459G>A	ENST00000342695.4	-	30	3895	c.3573C>T	c.(3571-3573)agC>agT	p.S1191S	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Silent_p.S1172S|ATP13A4_ENST00000400270.2_Silent_p.S207S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1191						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTTCTTCATTGCTCTCAAATA	0.438													G|||	110	0.0219649	0.0802	0.0058	5008	,	,		18998	0.0		0.0	False		,,,				2504	0.0				p.S1191S		Atlas-SNP	.											.	ATP13A4	154	.	0			c.C3573T						PASS	.	G		302,4104	165.1+/-196.6	13,276,1914	91	89	90		3573	4.1	1	3	dbSNP_119	90	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ATP13A4	NM_032279.2		13,280,6210	AA,AG,GG		0.0465,6.8543,2.3528		1191/1197	193120459	306,12700	2203	4300	6503	SO:0001819	synonymous_variant	84239	exon30			TTCATTGCTCTCA	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3573C>T	3.37:g.193120459G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	108	49	0.453704	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																			G|0.974;A|0.026	0.026	strong		0.438	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193120459	G	A	193120459	2	1	22	1	0	0	0	0	0	0	0	1	1126	1310	46	2		2	ATP13A4	3	193120459	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39337	193120459	4901971	2446	7554										
ATP13A4	84239	hgsc.bcm.edu	37	chr3	193120627	193120627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcttttaatcatcatccaCagggctcgattttcaataac	4	11	4	0	rs61733355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193120627C>T	ENST00000342695.4	-	30	3727	c.3405G>A	c.(3403-3405)ctG>ctA	p.L1135L	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Silent_p.L151L|ATP13A4_ENST00000392443.3_Silent_p.L1116L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1135						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCATCATCCACAGGGCTCGAT	0.448													C|||	72	0.014377	0.0522	0.0043	5008	,	,		18910	0.0		0.0	False		,,,				2504	0.0				p.L1135L		Atlas-SNP	.											.	ATP13A4	154	.	0			c.G3405A						PASS	.	C		237,4169	139.2+/-174.8	10,217,1976	74	71	72		3405	0	1	3	dbSNP_129	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ATP13A4	NM_032279.2		10,220,6273	TT,TC,CC		0.0349,5.379,1.8453		1135/1197	193120627	240,12766	2203	4300	6503	SO:0001819	synonymous_variant	84239	exon30			CATCCACAGGGCT	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3405G>A	3.37:g.193120627C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	146	63	0.431507	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																			C|0.982;T|0.018	0.018	strong		0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		T	193120627	C	T	193120627	2	4	22	1	0	0	0	0	0	0	0	1	1126	465	17	2		2	ATP13A4	3	193120627	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168	193120627	4901803	2447	7555										
ATP13A4	84239	hgsc.bcm.edu	37	chr3	193180592	193180592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actccccagaggtccaagccGtcccttgttaaggtgcctgt	10	14	0	1	rs59451116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193180592G>A	ENST00000342695.4	-	13	1804	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	ATP13A4_ENST00000295548.3_Silent_p.D494D|ATP13A4_ENST00000392443.3_Silent_p.D475D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	494						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTCCAAGCCGTCCCTTGTTA	0.488													A|||	1477	0.294928	0.2905	0.3141	5008	,	,		17830	0.3046		0.1918	False		,,,				2504	0.3834				p.D494D		Atlas-SNP	.											.	ATP13A4	154	.	0			c.C1482T						PASS	.	A		1191,3215	710.1+/-407.8	142,907,1154	111	99	103		1482	2	1	3	dbSNP_129	103	1706,6894	737.6+/-407.0	169,1368,2763	no	coding-synonymous	ATP13A4	NM_032279.2		311,2275,3917	AA,AG,GG		19.8372,27.0313,22.2743		494/1197	193180592	2897,10109	2203	4300	6503	SO:0001819	synonymous_variant	84239	exon13			CAAGCCGTCCCTT	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1482C>T	3.37:g.193180592G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																			G|0.762;A|0.238	0.238	strong		0.488	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193180592	G	A	193180592	2	1	22	1	0	0	0	0	0	0	0	1	1126	1136	40	1		1	ATP13A4	3	193180592	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59965	193180592	4841838	2448	7556										
ATP13A4	84239	hgsc.bcm.edu	37	chr3	193209178	193209178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgatagtattaggcccacaTattaacctcctatagaaaga	6	9	0	2	rs6788448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193209178T>C	ENST00000342695.4	-	6	865	c.543A>G	c.(541-543)atA>atG	p.I181M	ATP13A4_ENST00000295548.3_Missense_Mutation_p.I181M|ATP13A4_ENST00000392443.3_Missense_Mutation_p.I181M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	181			I -> M (in dbSNP:rs6788448). {ECO:0000269|PubMed:15925480}.			integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAGGCCCACATATTAACCTCC	0.358													T|||	2361	0.471446	0.5318	0.4928	5008	,	,		18519	0.4673		0.3946	False		,,,				2504	0.4581				p.I181M		Atlas-SNP	.											.	ATP13A4	154	.	0			c.A543G						PASS	.	T	MET/ILE	2270,2136	597.1+/-388.8	571,1128,504	101	100	101		543	4.6	1	3	dbSNP_116	101	3476,5124	508.3+/-377.0	727,2022,1551	yes	missense	ATP13A4	NM_032279.2	10	1298,3150,2055	CC,CT,TT		40.4186,48.4793,44.1796	probably-damaging	181/1197	193209178	5746,7260	2203	4300	6503	SO:0001583	missense	84239	exon6			CCCACATATTAAC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.543A>G	3.37:g.193209178T>C	ENSP00000339182:p.Ile181Met	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	989	0.45283882783882784	260	0.5284552845528455	179	0.494475138121547	257	0.4493006993006993	293	0.3865435356200528	T	17.12	3.308038	0.60305	0.515207	0.404186	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.78707	-1.2;-1.2;-1.2	5.81	4.63	0.57726	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	M	0.79123	2.44	0.28947	P	0.890639	D;D	0.76494	0.998;0.999	D;D	0.77004	0.981;0.989	T	0.44065	-0.9352	9	0.48119	T	0.1	-19.2398	9.3177	0.37943	0.287:0.0:0.0:0.713	rs6788448;rs56481856;rs60242198;rs6788448	181;181	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	M	181	ENSP00000376238:I181M;ENSP00000339182:I181M;ENSP00000295548:I181M	ENSP00000295548:I181M	I	-	3	3	ATP13A4	194691872	0.701000	0.27806	1.000000	0.80357	0.947000	0.59692	-0.447000	0.06828	0.992000	0.38840	0.482000	0.46254	ATA	T|0.559;C|0.441	0.441	strong		0.358	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		C	193209178	T	C	193209178	3	2	22	1	0	0	0	0	1	0	0	0	1126	1396	49	2	3147	2	ATP13A4	3	193209178	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28586	193209178	4813252	2449	7557										
ATP13A4	84239	hgsc.bcm.edu	37	chr3	193210768	193210768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgtatcttggcagaactAagccagtcttccaaagaact	8	9	2	3	rs2130407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:193210768A>G	ENST00000342695.4	-	5	793	c.471T>C	c.(469-471)ctT>ctC	p.L157L	ATP13A4_ENST00000295548.3_Silent_p.L157L|ATP13A4_ENST00000392443.3_Silent_p.L157L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	157						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGCAGAACTAAGCCAGTCTT	0.318													G|||	2641	0.527356	0.6573	0.5029	5008	,	,		16069	0.5476		0.4036	False		,,,				2504	0.4755				p.L157L		Atlas-SNP	.											.	ATP13A4	154	.	0			c.T471C						PASS	.	G		2708,1698	511.9+/-367.9	814,1080,309	134	129	131		471	1.5	1	3	dbSNP_96	131	3530,5068	629.8+/-398.3	746,2038,1515	no	coding-synonymous	ATP13A4	NM_032279.2		1560,3118,1824	GG,GA,AA		41.0561,38.5384,47.9699		157/1197	193210768	6238,6766	2203	4299	6502	SO:0001819	synonymous_variant	84239	exon5			AGAACTAAGCCAG	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.471T>C	3.37:g.193210768A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	96	38	0.395833	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																			A|0.508;G|0.492	0.492	strong		0.318	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		G	193210768	A	G	193210768	2	3	22	1	0	0	0	0	0	0	0	1	1126	349	13	2		2	ATP13A4	3	193210768	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1590	193210768	4811662	2450	7558										
CPN2	1370	hgsc.bcm.edu	37	chr3	194062821	194062821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgggggagaccagagagcGcgttgttgctcagcttcagg	16	10	2	2	rs146126834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:194062821G>A	ENST00000323830.3	-	2	700	c.611C>T	c.(610-612)gCg>gTg	p.A204V	CPN2_ENST00000429275.1_Missense_Mutation_p.A204V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	204					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.A204V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ACCAGAGAGCGCGTTGTTGCT	0.617													G|||	13	0.00259585	0.0083	0.0014	5008	,	,		20075	0.0		0.001	False		,,,				2504	0.0				p.A204V		Atlas-SNP	.											CPN2,NS,carcinoma,0,1	CPN2	56	1	1	Substitution - Missense(1)	endometrium(1)	c.C611T						PASS	.	G	VAL/ALA	46,4360	48.2+/-83.0	0,46,2157	47	52	50		611	-3.7	0	3	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CPN2	NM_001080513.2	64	0,47,6456	AA,AG,GG		0.0116,1.044,0.3614	benign	204/546	194062821	47,12959	2203	4300	6503	SO:0001583	missense	1370	exon2			GAGAGCGCGTTGT	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.611C>T	3.37:g.194062821G>A	ENSP00000319464:p.Ala204Val	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	142	77	0.542253	NM_001080513	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	5.618	0.298668	0.10622	0.01044	1.16E-4	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.57907	0.37;0.37	4.77	-3.7	0.04437	.	1.593460	0.04366	N	0.358343	T	0.19127	0.0459	N	0.25031	0.7	0.09310	N	1	P	0.39520	0.676	B	0.25759	0.063	T	0.14531	-1.0469	10	0.29301	T	0.29	.	1.8943	0.03254	0.2691:0.1002:0.1357:0.495	.	204	P22792	CPN2_HUMAN	V	204	ENSP00000319464:A204V;ENSP00000402232:A204V	ENSP00000319464:A204V	A	-	2	0	CPN2	195544516	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-2.161000	0.01278	-0.371000	0.08004	-0.305000	0.09177	GCG	G|0.996;A|0.004	0.004	strong		0.617	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194062821	G	A	194062821	3	1	22	1	0	0	0	0	1	0	0	0	3810	1087	38	1	1030	1	CPN2	3	194062821	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	852053	194062821	3959609	2451	7559										
TMEM44	93109	hgsc.bcm.edu	37	chr3	194325103	194325103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaacgggagggtacgacggGgggtcctgcagggacgcatc	19	9	0	1	rs745169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:194325103G>A	ENST00000392432.2	-	10	1435	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	TMEM44_ENST00000381975.3_Missense_Mutation_p.P362L|TMEM44_ENST00000347147.4_Silent_p.P363P|TMEM44_ENST00000273580.7_Silent_p.P363P|TMEM44_ENST00000473092.1_Silent_p.P363P	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	410						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GGTACGACGGGGGGTCCTGCA	0.657													G|||	314	0.0626997	0.2277	0.0101	5008	,	,		15940	0.002		0.001	False		,,,				2504	0.0031				p.P362L		Atlas-SNP	.											.	TMEM44	42	.	0			c.C1085T						PASS	.	G	,,LEU/PRO,	772,3568		78,616,1476	29	26	27		1089,1230,1085,1089	-5.4	0.4	3	dbSNP_86	27	9,8525		0,9,4258	yes	coding-synonymous,coding-synonymous,missense,coding-synonymous	TMEM44	NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4	,,98,	78,625,5734	AA,AG,GG		0.1055,17.788,6.0665	,,,	363/429,410/476,362/397,363/439	194325103	781,12093	2170	4267	6437	SO:0001819	synonymous_variant	93109	exon9			CGACGGGGGGTCC	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1230C>T	3.37:g.194325103G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	131	65	0.496183	NM_001166306	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	106	0.048534798534798536	102	0.2073170731707317	4	0.011049723756906077	0	0.0	0	0.0	G	11.04	1.523178	0.27211	0.17788	0.001055	ENSG00000145014	ENST00000381975;ENST00000429560	T	0.35789	1.29	5.23	-5.43	0.02632	.	0.095734	0.42964	D	0.000626	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999837588	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.09552	-1.0669	8	0.66056	D	0.02	-23.756	7.3059	0.26447	0.3646:0.466:0.1694:0.0	rs745169;rs745169	94;362	Q6PL43;Q2T9K0-4	.;.	L	362;94	ENSP00000371402:P362L	ENSP00000371402:P362L	P	-	2	0	TMEM44	195806392	0.819000	0.29175	0.431000	0.26735	0.097000	0.18754	-0.564000	0.05936	-1.360000	0.02172	0.447000	0.29281	CCC	G|0.930;A|0.070	0.070	strong		0.657	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		A	194325103	G	A	194325103	2	1	22	1	0	0	0	0	0	0	0	1	16165	1232	43	2		2	TMEM44	3	194325103	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262282	194325103	3697327	2452	7560										
LSG1	55341	hgsc.bcm.edu	37	chr3	194371925	194371925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttgattgttgaactcttAccaacattagggtagcccac	9	9	1	2	rs35636619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:194371925A>G	ENST00000265245.5	-	9	1508	c.1194T>C	c.(1192-1194)ggT>ggC	p.G398G	AC046143.2_ENST00000582474.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	398	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TTGAACTCTTACCAACATTAG	0.418													A|||	13	0.00259585	0.0083	0.0014	5008	,	,		21914	0.0		0.001	False		,,,				2504	0.0				p.G398G		Atlas-SNP	.											.	LSG1	38	.	0			c.T1194C						PASS	.	A		13,4393	20.2+/-43.8	0,13,2190	162	146	151		1194	0.8	1	3	dbSNP_126	151	0,8600		0,0,4300	no	coding-synonymous	LSG1	NM_018385.2		0,13,6490	GG,GA,AA		0.0,0.2951,0.1		398/659	194371925	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	55341	exon9			ACTCTTACCAACA		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1194T>C	3.37:g.194371925A>G		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	184	83	0.451087	NM_018385	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	CCDS33922.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	10.82	1.457387	0.26161	0.002951	0.0	ENSG00000041802	ENST00000437613	.	.	.	6.06	0.824	0.18818	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	.	0.5788	0.00708	0.4085:0.17:0.2244:0.1971	rs35636619	.	.	.	A	132	.	.	V	-	2	0	LSG1	195853214	0.841000	0.29509	1.000000	0.80357	0.996000	0.88848	-0.065000	0.11617	0.549000	0.28973	0.533000	0.62120	GTA	A|0.999;G|0.001	0.001	strong		0.418	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		G	194371925	A	G	194371925	2	3	22	1	0	0	0	0	0	0	0	1	9049	378	14	2		2	LSG1	3	194371925	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46822	194371925	3650505	2453	7561										
ACAP2	23527	hgsc.bcm.edu	37	chr3	195027339	195027339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggaatctgcctggagcatGcaacttctaaaaggaaataa	9	8	2	0	rs12491026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:195027339G>A	ENST00000326793.6	-	13	1247	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	339	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCTGGAGCATGCAACTTCTAA	0.383													g|||	339	0.0676917	0.0507	0.0836	5008	,	,		15108	0.128		0.0119	False		,,,				2504	0.0746				p.C339C		Atlas-SNP	.											.	ACAP2	72	.	0			c.C1017T						PASS	.	A		204,4202	128.6+/-165.4	3,198,2002	110	110	110		1017	-1.1	1	3	dbSNP_120	110	157,8443	74.8+/-137.4	1,155,4144	no	coding-synonymous	ACAP2	NM_012287.5		4,353,6146	AA,AG,GG		1.8256,4.63,2.7756		339/779	195027339	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	23527	exon13			GAGCATGCAACTT		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1017C>T	3.37:g.195027339G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_012287	A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	CCDS33924.1	120	0.054945054945054944	24	0.04878048780487805	30	0.08287292817679558	55	0.09615384615384616	11	0.014511873350923483	g	6.170	0.399485	0.11696	0.0463	0.018256	ENSG00000114331	ENST00000439758	.	.	.	5.68	-1.11	0.09840	.	.	.	.	.	T	0.02929	0.0087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07693	-1.0759	4	.	.	.	.	11.9371	0.52880	0.3522:0.0:0.6478:0.0	rs12491026;rs12491026	.	.	.	Y	214	.	.	H	-	1	0	ACAP2	196508628	1.000000	0.71417	0.987000	0.45799	0.712000	0.41017	1.237000	0.32695	-0.420000	0.07427	-1.249000	0.01516	CAT	G|0.957;A|0.043	0.043	strong		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195027339	G	A	195027339	2	1	22	1	0	0	0	0	0	0	0	1	119	1311	46	2		2	ACAP2	3	195027339	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	655414	195027339	2995091	2454	7562										
MUC20	200958	hgsc.bcm.edu	37	chr3	195452679	195452679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcaccccctcatggtcccCgggatctgacgtcactctcc	7	19	5	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:195452679C>T	ENST00000447234.2	+	2	1331	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	MUC20_ENST00000445522.2_Missense_Mutation_p.P367L|MUC20_ENST00000436408.1_Missense_Mutation_p.P402L|MUC20_ENST00000320736.6_Missense_Mutation_p.P231L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	402					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATGGTCCCCGGGATCTGAC	0.577																																					p.P231L		Atlas-SNP	.											.	MUC20	84	.	0			c.C692T						PASS	.						4	3	4					3																	195452679		1669	3676	5345	SO:0001583	missense	200958	exon3			GGTCCCCGGGATC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1205C>T	3.37:g.195452679C>T	ENSP00000414350:p.Pro402Leu	Somatic	609	0	0		WXS	Illumina HiSeq	Phase_I	990	191	0.192929	NM_152673	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.	.	.	.	.	.	.	.	.	.	c	0.869	-0.732706	0.03135	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.11169	3.13;3.17;3.42;2.8	3.26	-6.52	0.01872	.	0.588934	0.14297	N	0.328508	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30995	-0.9959	10	0.87932	D	0	10.2224	0.1188	0.00063	0.242:0.2215:0.2078:0.3286	.	231	E9PH32	.	L	402;231;402;367	ENSP00000414350:P402L;ENSP00000325431:P231L;ENSP00000396774:P402L;ENSP00000405629:P367L	ENSP00000325431:P231L	P	+	2	0	MUC20	196938350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.247000	0.02893	-2.014000	0.00948	-0.972000	0.02603	CCG	.	.	none		0.577	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		T	195452679	C	T	195452679	3	4	22	1	0	0	0	0	1	0	0	0	9976	652	23	1	702	1	MUC20	3	195452679	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	425340	195452679	2569751	2455	7563										
MUC4	4585	hgsc.bcm.edu	37	chr3	195481111	195481111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccgcccatccccagtcaGgtttggagggcaggcctcgc	14	15	1	0	rs73079395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:195481111G>T	ENST00000346145.4	-	18	2632	c.2593C>A	c.(2593-2595)Ctg>Atg	p.L865M	MUC4_ENST00000349607.4_Missense_Mutation_p.L814M|MUC4_ENST00000475231.1_Missense_Mutation_p.L5049M|MUC4_ENST00000463781.3_Missense_Mutation_p.L5101M	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1858	Ser-rich.				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)		TCCCCAGTCAGGTTTGGAGGG	0.662													.|||	325	0.0648962	0.2322	0.0245	5008	,	,		15840	0.0		0.001	False		,,,				2504	0.0				p.L5101M		Atlas-SNP	.											.	MUC4	1505	.	0			c.C15301A						PASS	.	G	MET/LEU,MET/LEU,MET/LEU	900,3506		99,702,1402	63	67	65		2593,15301,2440	1.3	0.6	3	dbSNP_130	65	6,8594		0,6,4294	yes	missense,missense,missense	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	15,15,15	99,708,5696	TT,TG,GG		0.0698,20.4267,6.966	possibly-damaging,possibly-damaging,possibly-damaging	865/1177,5101/5413,814/1126	195481111	906,12100	2203	4300	6503	SO:0001583	missense	4585	exon19			CAGTCAGGTTTGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2593C>A	3.37:g.195481111G>T	ENSP00000304207:p.Leu865Met	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	307	155	0.504886	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	CCDS3310.1	113	0.051739926739926737	106	0.21544715447154472	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	.	8.877	0.950622	0.18431	0.204267	6.98E-4	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.46451	0.87;1.23;1.21;1.16	4.96	1.32	0.21799	.	0.408184	0.20459	N	0.091933	T	0.00039	0.0001	L	0.43757	1.38	0.80722	P	0.0	P;B;P;B;B;P	0.39352	0.554;0.254;0.494;0.057;0.057;0.669	B;B;B;B;B;B	0.42112	0.078;0.118;0.19;0.015;0.015;0.376	T	0.15292	-1.0442	9	0.32370	T	0.25	-1.7434	12.0729	0.53626	0.0:0.0:0.611:0.389	.	4973;814;865;5101;5049;1806	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	M	814;865;5101;5049;1601	ENSP00000338109:L814M;ENSP00000304207:L865M;ENSP00000417498:L5101M;ENSP00000420243:L5049M	ENSP00000304207:L865M	L	-	1	2	MUC4	196966782	0.986000	0.35501	0.621000	0.29145	0.157000	0.22087	0.811000	0.27198	0.329000	0.23460	0.436000	0.28706	CTG	G|0.924;T|0.076	0.076	strong		0.662	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195481111	G	T	195481111	3	4	22	1	0	0	0	0	1	0	0	0	9978	991	35	4	965	4	MUC4	3	195481111	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28432	195481111	2541319	2456	7564										
TFRC	7037	hgsc.bcm.edu	37	chr3	195787102	195787102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagtgggctggcagaaacCttgaagttgctggtacctga	13	8	0	3	rs111276121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:195787102C>T	ENST00000360110.4	-	14	1654	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	TFRC_ENST00000420415.1_Silent_p.K414K|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000392396.3_Silent_p.K495K|TFRC_ENST00000535031.1_Silent_p.K213K|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	495					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TGGCAGAAACCTTGAAGTTGC	0.338			T	BCL6	NHL								C|||	9	0.00179712	0.0068	0.0	5008	,	,		19006	0.0		0.0	False		,,,				2504	0.0				p.K495K		Atlas-SNP	.		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	.	TFRC	54	.	0			c.G1485A						PASS	.	C	,	27,4379	33.5+/-64.1	0,27,2176	158	144	148		1485,1485	-0.4	1	3	dbSNP_132	148	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TFRC	NM_001128148.1,NM_003234.2	,	0,27,6476	TT,TC,CC		0.0,0.6128,0.2076	,	495/761,495/761	195787102	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	7037	exon14			AGAAACCTTGAAG	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1485G>A	3.37:g.195787102C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	164	86	0.52439	NM_001128148	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	CCDS3312.1																																																																																			C|0.997;T|0.003	0.003	strong		0.338	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			T	195787102	C	T	195787102	2	4	22	1	0	0	0	0	0	0	0	1	15809	680	24	2		2	TFRC	3	195787102	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	305991	195787102	2235328	2457	7565										
ZDHHC19	131540	hgsc.bcm.edu	37	chr3	195935346	195935346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggcgcccgagtagaggCacagggacaggacaagcagc	16	11	0	1	rs75505676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:195935346C>T	ENST00000296326.3	-	4	573	c.494G>A	c.(493-495)tGc>tAc	p.C165Y	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	165						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CGAGTAGAGGCACAGGGACAG	0.602													C|||	15	0.00299521	0.0098	0.0029	5008	,	,		16054	0.0		0.0	False		,,,				2504	0.0				p.C165Y		Atlas-SNP	.											.	ZDHHC19	25	.	0			c.G494A						PASS	.	C	TYR/CYS	41,4341		0,41,2150	117	137	130		494	4.7	1	3	dbSNP_131	130	0,8560		0,0,4280	yes	missense	ZDHHC19	NM_001039617.1	194	0,41,6430	TT,TC,CC		0.0,0.9356,0.3168	probably-damaging	165/310	195935346	41,12901	2191	4280	6471	SO:0001583	missense	131540	exon4			TAGAGGCACAGGG	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.494G>A	3.37:g.195935346C>T	ENSP00000296326:p.Cys165Tyr	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	244	116	0.47541	NM_001039617	A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	CCDS43190.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	19.39	3.817947	0.71028	0.009356	0.0	ENSG00000163958	ENST00000296326	T	0.24350	1.86	5.61	4.72	0.59763	Zinc finger, DHHC-type, palmitoyltransferase (1);	0.000000	0.64402	D	0.000008	T	0.44912	0.1316	M	0.93328	3.405	0.36364	D	0.860879	P	0.52463	0.953	P	0.54544	0.755	T	0.69262	-0.5191	10	0.66056	D	0.02	-33.5711	11.8273	0.52275	0.1753:0.8247:0.0:0.0	.	165	Q8WVZ1	ZDH19_HUMAN	Y	165	ENSP00000296326:C165Y	ENSP00000296326:C165Y	C	-	2	0	ZDHHC19	197419743	0.937000	0.31787	0.983000	0.44433	0.650000	0.38633	0.889000	0.28282	1.342000	0.45619	0.561000	0.74099	TGC	C|0.996;T|0.004	0.004	strong		0.602	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		T	195935346	C	T	195935346	3	4	22	1	0	0	0	0	1	0	0	0	17606	710	25	2	451	2	ZDHHC19	3	195935346	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148244	195935346	2087084	2458	7566										
C3orf43	255798	hgsc.bcm.edu	37	chr3	196234777	196234777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttagtttttgacagatggtAtcaactcttcgagggatgac	11	6	2	3	rs187809363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196234777A>G	ENST00000397537.2	-	3	782	c.626T>C	c.(625-627)aTa>aCa	p.I209T		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	209						integral component of membrane (GO:0016021)											gacagatggtatcaaCTCTTC	0.428													A|||	7	0.00139776	0.0053	0.0	5008	,	,		17582	0.0		0.0	False		,,,				2504	0.0				p.I209T		Atlas-SNP	.											C3orf43,NS,malignant_melanoma,+1,1	C3orf43	25	1	0			c.T626C						PASS	.	A	THR/ILE	15,3743		0,15,1864	111	102	105		626	4	0	3		105	0,8236		0,0,4118	yes	missense	C3orf43	NM_001077657.1	89	0,15,5982	GG,GA,AA		0.0,0.3991,0.1251	benign	209/215	196234777	15,11979	1879	4118	5997	SO:0001583	missense	255798	exon3			GATGGTATCAACT	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.626T>C	3.37:g.196234777A>G	ENSP00000380671:p.Ile209Thr	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	208	97	0.466346	NM_001077657	B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	CCDS43192.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	11.14	1.550303	0.27739	0.003991	0.0	ENSG00000214097	ENST00000397537	T	0.36340	1.26	5.39	4.03	0.46877	.	.	.	.	.	T	0.28067	0.0692	L	0.29908	0.895	0.09310	N	1	B;B	0.26195	0.144;0.144	B;B	0.27715	0.051;0.082	T	0.18999	-1.0319	9	0.72032	D	0.01	-4.7237	9.3415	0.38082	0.9032:0.0:0.0968:0.0	.	209;201	Q147U7;E9PGG7	CC043_HUMAN;.	T	209	ENSP00000380671:I209T	ENSP00000380671:I209T	I	-	2	0	C3orf43	197719174	0.957000	0.32711	0.010000	0.14722	0.013000	0.08279	2.479000	0.45197	2.054000	0.61138	0.533000	0.62120	ATA	A|0.999;G|0.001	0.001	strong		0.428	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		G	196234777	A	G	196234777	3	3	22	1	0	0	0	0	1	0	0	0	2230	449	16	2	22	2	C3orf43	3	196234777	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	299431	196234777	1787653	2459	7567										
C3orf43	255798	hgsc.bcm.edu	37	chr3	196235191	196235191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtataaaatattcaattccAttgaagtgagcctacaaaaa	5	6	1	2	rs73891273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196235191A>G	ENST00000397537.2	-	3	368	c.212T>C	c.(211-213)aTg>aCg	p.M71T		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	71						integral component of membrane (GO:0016021)											ATTCAATTCCATTGAAGTGAG	0.358													.|||	265	0.0529153	0.1876	0.0231	5008	,	,		16968	0.0		0.001	False		,,,				2504	0.0				p.M71T		Atlas-SNP	.											C3orf43,NS,carcinoma,+1,1	C3orf43	25	1	0			c.T212C						PASS	.	A	THR/MET	559,3137		45,469,1334	62	60	60		212	5.5	1	3	dbSNP_130	60	5,8181		0,5,4088	yes	missense	C3orf43	NM_001077657.1	81	45,474,5422	GG,GA,AA		0.0611,15.1245,4.7467	possibly-damaging	71/215	196235191	564,11318	1848	4093	5941	SO:0001583	missense	255798	exon3			AATTCCATTGAAG	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.212T>C	3.37:g.196235191A>G	ENSP00000380671:p.Met71Thr	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_001077657	B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	CCDS43192.1	97	0.044413919413919416	90	0.18292682926829268	7	0.019337016574585635	0	0.0	0	0.0	A	14.07	2.425685	0.43020	0.151245	6.11E-4	ENSG00000214097	ENST00000397537	T	0.36699	1.24	5.46	5.46	0.80206	.	.	.	.	.	T	0.00073	0.0002	L	0.34521	1.04	0.30114	P	0.806335	B;B	0.32160	0.358;0.358	B;B	0.32762	0.152;0.152	T	0.11179	-1.0598	8	0.59425	D	0.04	-16.9577	13.0552	0.58975	1.0:0.0:0.0:0.0	.	71;63	Q147U7;E9PGG7	CC043_HUMAN;.	T	71	ENSP00000380671:M71T	ENSP00000380671:M71T	M	-	2	0	C3orf43	197719588	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.753000	0.62183	2.062000	0.61559	0.533000	0.62120	ATG	A|0.971;G|0.029	0.029	strong		0.358	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		G	196235191	A	G	196235191	3	3	22	1	0	0	0	0	1	0	0	0	2230	217	8	2	436	2	C3orf43	3	196235191	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	414	196235191	1787239	2460	7568										
WDR53	348793	hgsc.bcm.edu	37	chr3	196281263	196281263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagcgttagtatttccaCcctgcttggtgcaagttcct	9	11	0	1	rs61730533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196281263C>T	ENST00000332629.5	-	4	1463	c.896G>A	c.(895-897)gGt>gAt	p.G299D	WDR53_ENST00000433160.1_Missense_Mutation_p.G140D|WDR53_ENST00000429115.1_Missense_Mutation_p.G138D	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	299										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AGTATTTCCACCCTGCTTGGT	0.418													C|||	283	0.0565096	0.1997	0.0245	5008	,	,		18151	0.0		0.002	False		,,,				2504	0.0				p.G299D		Atlas-SNP	.											.	WDR53	26	.	0			c.G896A						PASS	.	C	ASP/GLY	759,3647	310.0+/-291.3	63,633,1507	290	249	263		896	-3.3	0	3	dbSNP_129	263	11,8589	8.4+/-32.0	0,11,4289	yes	missense	WDR53	NM_182627.1	94	63,644,5796	TT,TC,CC		0.1279,17.2265,5.9203	benign	299/359	196281263	770,12236	2203	4300	6503	SO:0001583	missense	348793	exon4			TTTCCACCCTGCT	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"WD repeat domain containing"	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.896G>A	3.37:g.196281263C>T	ENSP00000328079:p.Gly299Asp	Somatic	523	1	0.00191205		WXS	Illumina HiSeq	Phase_I	549	259	0.471767	NM_182627	A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	CCDS3318.1	113	0.051739926739926737	104	0.21138211382113822	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	C	0.015	-1.543285	0.00934	0.172265	0.001279	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.72282	-0.64;1.94;1.94	5.67	-3.35	0.04928	.	1.642950	0.02577	N	0.098418	T	0.00039	0.0001	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.11966	-1.0566	9	0.02654	T	1	-15.4206	0.1558	0.00098	0.3118:0.235:0.2066:0.2466	.	299	Q7Z5U6	WDR53_HUMAN	D	299;138;140	ENSP00000328079:G299D;ENSP00000396668:G138D;ENSP00000410677:G140D	ENSP00000328079:G299D	G	-	2	0	WDR53	197765660	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.565000	0.05929	-0.487000	0.06735	-1.036000	0.02392	GGT	C|0.942;T|0.058	0.058	strong		0.418	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		T	196281263	C	T	196281263	3	4	22	1	0	0	0	0	1	0	0	0	17302	507	18	2	184	2	WDR53	3	196281263	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46072	196281263	1741167	2461	7569										
PAK2	5062	hgsc.bcm.edu	37	chr3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcataattctgaatcatgtCtgataacggagaactggaag	9	6	4	3	rs67093638		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																					p.S2C		Atlas-SNP	.											PAK2_ENST00000327134,NS,carcinoma,0,4	PAK2	113	4	2	Substitution - Missense(2)	prostate(2)	c.C5G						scavenged	.						81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062	exon2			TCATGTCTGATAA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	168	2	0.0119048	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT	C|0.986;G|0.014	0.014	strong		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	22	1	0	0	0	0	1	0	0	0	11401	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	228259	196509522	1512908	2462	7570										
PAK2	5062	hgsc.bcm.edu	37	chr3	196529982	196529982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtgctggatgtcctaaAgttctacgactccaacacag	10	11	1	0	rs78043821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196529982A>G	ENST00000327134.3	+	4	705	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	128	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GATGTCCTAAAGTTCTACGAC	0.463																																					p.K128R		Atlas-SNP	.											PAK2_ENST00000327134,NS,lymphoid_neoplasm,0,2	PAK2	113	2	0			c.A383G						scavenged	.						107	95	99					3																	196529982		2203	4300	6503	SO:0001583	missense	5062	exon4			TCCTAAAGTTCTA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.383A>G	3.37:g.196529982A>G	ENSP00000314067:p.Lys128Arg	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	156	13	0.0833333	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176399	0.78564	.	.	ENSG00000180370	ENST00000327134	D	0.86230	-2.09	5.27	5.27	0.74061	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.55743	1.74	0.80722	D	1	P	0.37015	0.578	B	0.43155	0.41	D	0.86926	0.2070	10	0.48119	T	0.1	.	14.3609	0.66771	1.0:0.0:0.0:0.0	.	128	Q13177	PAK2_HUMAN	R	128	ENSP00000314067:K128R	ENSP00000314067:K128R	K	+	2	0	PAK2	198014379	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	6.986000	0.76200	2.002000	0.58637	0.460000	0.39030	AAG	A|0.915;G|0.084	0.084	strong		0.463	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196529982	A	G	196529982	3	3	22	1	0	0	0	0	1	0	0	0	11401	72	3	3	393	3	PAK2	3	196529982	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20460	196529982	1492448	2463	7571										
PAK2	5062	hgsc.bcm.edu	37	chr3	196544948	196544948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttacaggcattggagttTttacatgctaatcaagtgat	9	5	1	1	rs56172538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196544948T>C	ENST00000327134.3	+	12	1396	c.1074T>C	c.(1072-1074)ttT>ttC	p.F358F		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CATTGGAGTTTTTACATGCTA	0.398													T|||	494	0.0986422	0.2844	0.0519	5008	,	,		15485	0.0		0.0378	False		,,,				2504	0.045				p.F358F		Atlas-SNP	.											.	PAK2	113	.	0			c.T1074C						PASS	.	T		1136,3270	405.5+/-333.5	142,852,1209	116	103	107		1074	5.8	1	3	dbSNP_129	107	382,8218	123.8+/-182.6	12,358,3930	no	coding-synonymous	PAK2	NM_002577.4		154,1210,5139	CC,CT,TT		4.4419,25.783,11.6715		358/525	196544948	1518,11488	2203	4300	6503	SO:0001819	synonymous_variant	5062	exon12			GGAGTTTTTACAT	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1074T>C	3.37:g.196544948T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	62	35	0.564516	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1	160	0.07326007326007326	116	0.23577235772357724	17	0.04696132596685083	0	0.0	27	0.03562005277044855	T	10.14	1.268826	0.23136	0.25783	0.044419	ENSG00000180370	ENST00000426668	T	0.68025	-0.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.39981	-0.9587	6	0.66056	D	0.02	.	6.417	0.21721	0.0:0.1886:0.0:0.8114	rs56172538;rs61735863	.	.	.	S	101	ENSP00000402927:F101S	ENSP00000402927:F101S	F	+	2	0	PAK2	198029345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.134000	0.31442	2.326000	0.78906	0.533000	0.62120	TTT	T|0.896;C|0.104	0.104	strong		0.398	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		C	196544948	T	C	196544948	2	2	22	1	0	0	0	0	0	0	0	1	11401	1838	64	2		2	PAK2	3	196544948	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14966	196544948	1477482	2464	7572										
SENP5	205564	hgsc.bcm.edu	37	chr3	196613075	196613075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaaggagcttagtttagaCgaagcattccctgaccaaca	10	10	0	2	rs34533379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196613075C>T	ENST00000323460.5	+	2	1272	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.D341D	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	341					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTAGTTTAGACGAAGCATTCC	0.502													C|||	1186	0.236821	0.3555	0.1239	5008	,	,		20943	0.1667		0.2346	False		,,,				2504	0.2311				p.D341D	Ovarian(47;891 1095 11174 13858 51271)	Atlas-SNP	.											.	SENP5	68	.	0			c.C1023T						PASS	.	C		1438,2968	466.8+/-354.6	220,998,985	91	79	83		1023	-6.5	0.4	3	dbSNP_126	83	1844,6756	330.7+/-319.3	200,1444,2656	no	coding-synonymous	SENP5	NM_152699.4		420,2442,3641	TT,TC,CC		21.4419,32.6373,25.2345		341/756	196613075	3282,9724	2203	4300	6503	SO:0001819	synonymous_variant	205564	exon2			TTTAGACGAAGCA	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1023C>T	3.37:g.196613075C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_152699	B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	CCDS3322.1																																																																																			C|0.751;T|0.249	0.249	strong		0.502	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		T	196613075	C	T	196613075	2	4	22	1	0	0	0	0	0	0	0	1	14049	535	19	1		1	SENP5	3	196613075	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68127	196613075	1409355	2465	7573										
PIGZ	80235	hgsc.bcm.edu	37	chr3	196674916	196674916	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacaaggttcctggatgtAgcggggctggagaaatacca	15	7	0	1	rs1147240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196674916A>C	ENST00000412723.1	-	3	998	c.852T>G	c.(850-852)gcT>gcG	p.A284A		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	284					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TCCTGGATGTAGCGGGGCTGG	0.607													A|||	2891	0.577276	0.6672	0.4568	5008	,	,		18756	0.7698		0.3976	False		,,,				2504	0.5276				p.A284A		Atlas-SNP	.											.	PIGZ	34	.	0			c.T852G						PASS	.	A		2723,1683	639.9+/-397.2	832,1059,312	104	110	108		852	-8.1	0	3	dbSNP_87	108	3228,5372	471.3+/-368.1	617,1994,1689	no	coding-synonymous	PIGZ	NM_025163.2		1449,3053,2001	CC,CA,AA		37.5349,38.1979,45.7558		284/580	196674916	5951,7055	2203	4300	6503	SO:0001819	synonymous_variant	80235	exon3			GGATGTAGCGGGG	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.852T>G	3.37:g.196674916A>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	51	1	NM_025163	Q9H9G6	Silent	SNP	ENST00000412723.1	37	CCDS3324.1																																																																																			A|0.479;C|0.521	0.521	strong		0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		C	196674916	A	C	196674916	2	2	22	1	0	0	0	0	0	0	0	1	11905	407	15	5		5	PIGZ	3	196674916	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61841	196674916	1347514	2466	7574										
DLG1	1739	hgsc.bcm.edu	37	chr3	196842831	196842831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccttttctgagctctccActtagatcagcaggtcctcc	6	15	4	2	rs79212676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:196842831A>G	ENST00000419354.1	-	14	1795	c.1509T>C	c.(1507-1509)agT>agC	p.S503S	DLG1_ENST00000448528.2_Silent_p.S503S|DLG1_ENST00000314062.3_Silent_p.S452S|DLG1_ENST00000422288.1_Silent_p.S452S|DLG1_ENST00000452595.1_Silent_p.S387S|DLG1_ENST00000450955.1_Silent_p.S470S|DLG1_ENST00000392382.2_Silent_p.S470S|DLG1_ENST00000357674.4_Silent_p.S470S|DLG1_ENST00000443183.1_Silent_p.S387S|DLG1_ENST00000346964.2_Silent_p.S503S			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	503	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAGCTCTCCACTTAGATCAG	0.408													A|||	40	0.00798722	0.0265	0.0072	5008	,	,		16788	0.0		0.0	False		,,,				2504	0.0				p.S503S		Atlas-SNP	.											.	DLG1	120	.	0			c.T1509C						PASS	.	A	,,,,	118,4288	88.7+/-127.4	1,116,2086	119	114	116		1509,1410,1161,1161,1509	3.2	1	3	dbSNP_131	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLG1	NM_001098424.1,NM_001204386.1,NM_001204387.1,NM_001204388.1,NM_004087.2	,,,,	1,116,6386	GG,GA,AA		0.0,2.6782,0.9073	,,,,	503/905,470/893,387/801,387/789,503/927	196842831	118,12888	2203	4300	6503	SO:0001819	synonymous_variant	1739	exon14			CTCTCCACTTAGA	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1509T>C	3.37:g.196842831A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	195	88	0.451282	NM_001098424	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	ENST00000419354.1	37	CCDS43194.1																																																																																			A|0.990;G|0.010	0.010	strong		0.408	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		G	196842831	A	G	196842831	2	3	22	1	0	0	0	0	0	0	0	1	4554	156	6	2		2	DLG1	3	196842831	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	167915	196842831	1179599	2467	7575										
LRCH3	84859	hgsc.bcm.edu	37	chr3	197579466	197579466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtccacaaaaacagcaccCgctcctagatggcgtagatg	9	12	0	2	rs36078463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:197579466C>T	ENST00000425562.2	+	13	1565	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	LRCH3_ENST00000536618.1_Missense_Mutation_p.P117L|LRCH3_ENST00000334859.4_Missense_Mutation_p.P522L|LRCH3_ENST00000441090.2_Missense_Mutation_p.P368L|LRCH3_ENST00000414675.2_Missense_Mutation_p.P494L|LRCH3_ENST00000438796.2_Missense_Mutation_p.P522L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	522			P -> L (in dbSNP:rs36078463).			cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAACAGCACCCGCTCCTAGAT	0.383													C|||	527	0.105232	0.115	0.0447	5008	,	,		16705	0.1835		0.0746	False		,,,				2504	0.0859				p.P522L		Atlas-SNP	.											.	LRCH3	96	.	0			c.C1565T						PASS	.	C	LEU/PRO	471,3935	223.3+/-239.8	20,431,1752	155	159	158		1565	2.7	0	3	dbSNP_126	158	633,7967	164.3+/-216.7	21,591,3688	yes	missense	LRCH3	NM_032773.2	98	41,1022,5440	TT,TC,CC		7.3605,10.69,8.4884	benign	522/713	197579466	1104,11902	2203	4300	6503	SO:0001583	missense	84859	exon13			AGCACCCGCTCCT	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1565C>T	3.37:g.197579466C>T	ENSP00000393579:p.Pro522Leu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	133	67	0.503759	NM_032773	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		213	0.09752747252747253	49	0.09959349593495935	17	0.04696132596685083	89	0.1555944055944056	58	0.07651715039577836	C	3.629	-0.076024	0.07184	0.1069	0.073605	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;T;T;T;T;T	0.46063	2.13;1.5;2.02;2.38;2.15;0.88;0.95;0.96	5.67	2.74	0.32292	.	0.319926	0.28448	N	0.015311	T	0.00073	0.0002	N	0.17082	0.46	0.80722	P	0.0	B;B;B;B;B	0.14438	0.006;0.005;0.01;0.003;0.005	B;B;B;B;B	0.16289	0.004;0.002;0.015;0.003;0.004	T	0.06972	-1.0797	9	0.48119	T	0.1	0.3333	3.8877	0.09105	0.1691:0.5802:0.1634:0.0873	rs36078463	368;494;522;522;522	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	L	522;368;494;522;522;117;33;19	ENSP00000399751:P522L;ENSP00000394609:P368L;ENSP00000394965:P494L;ENSP00000334375:P522L;ENSP00000393579:P522L;ENSP00000439083:P117L;ENSP00000395309:P33L;ENSP00000400164:P19L	ENSP00000334375:P522L	P	+	2	0	LRCH3	199063863	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.499000	0.22546	0.740000	0.32651	0.650000	0.86243	CCG	C|0.913;T|0.087	0.087	strong		0.383	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		T	197579466	C	T	197579466	3	4	22	1	0	0	0	0	1	0	0	0	8934	652	23	1	1615	1	LRCH3	3	197579466	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	736635	197579466	442964	2468	7576										
IQCG	84223	hgsc.bcm.edu	37	chr3	197659160	197659160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggtatctgcaatcacatCgctgaaaaactgcctgtaag	8	9	2	1	rs67877771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:197659160C>G	ENST00000265239.6	-	6	953	c.529G>C	c.(529-531)Gat>Cat	p.D177H	IQCG_ENST00000455191.1_Missense_Mutation_p.D177H|IQCG_ENST00000453254.1_Missense_Mutation_p.D177H	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	177				D -> H (in Ref. 4; AAH04816). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GCAATCACATCGCTGAAAAAC	0.428													C|||	1411	0.281749	0.5227	0.1715	5008	,	,		16755	0.2262		0.166	False		,,,				2504	0.2106				p.D177H		Atlas-SNP	.											IQCG,rectum,carcinoma,0,1	IQCG	44	1	0			c.G529C						PASS	.	C	HIS/ASP,HIS/ASP	1970,2436	556.1+/-379.4	417,1136,650	107	101	103		529,529	2.9	1	3	dbSNP_130	103	1429,7171	275.3+/-291.7	117,1195,2988	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	81,81	534,2331,3638	GG,GC,CC		16.6163,44.7118,26.1341	probably-damaging,probably-damaging	177/444,177/444	197659160	3399,9607	2203	4300	6503	SO:0001583	missense	84223	exon6			TCACATCGCTGAA	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.529G>C	3.37:g.197659160C>G	ENSP00000265239:p.Asp177His	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_032263	Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	554	0.25366300366300365	256	0.5203252032520326	51	0.1408839779005525	120	0.2097902097902098	127	0.16754617414248021	C	12.96	2.093755	0.36952	0.447118	0.166163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.55930	0.74;0.74;0.77;0.49	4.81	2.88	0.33553	.	0.205977	0.38837	N	0.001547	T	0.00012	0.0000	M	0.75264	2.295	0.27204	P	0.9600887	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.948	T	0.47381	-0.9122	9	0.59425	D	0.04	-14.1493	7.1513	0.25612	0.0:0.7581:0.0:0.2419	.	177;177	C9JKX8;Q9H095	.;IQCG_HUMAN	H	177;177;177;158	ENSP00000265239:D177H;ENSP00000407736:D177H;ENSP00000389897:D177H;ENSP00000406411:D158H	ENSP00000265239:D177H	D	-	1	0	IQCG	199143557	0.961000	0.32948	0.987000	0.45799	0.493000	0.33554	1.099000	0.31013	1.073000	0.40885	0.460000	0.39030	GAT	C|0.746;G|0.254	0.254	strong		0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		G	197659160	C	G	197659160	3	3	22	1	0	0	0	0	1	0	0	0	7810	884	31	4	830	4	IQCG	3	197659160	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79694	197659160	363270	2469	7577										
IQCG	84223	hgsc.bcm.edu	37	chr3	197665599	197665599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatttttgtgattgttgagGccattggaagtttgtctaga	12	3	1	3	rs9880989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:197665599G>T	ENST00000265239.6	-	5	759	c.335C>A	c.(334-336)gCc>gAc	p.A112D	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.A112D|IQCG_ENST00000455191.1_Missense_Mutation_p.A112D	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	112			A -> D (in dbSNP:rs9880989). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GATTGTTGAGGCCATTGGAAG	0.363													G|||	1411	0.281749	0.5197	0.1715	5008	,	,		19781	0.2302		0.166	False		,,,				2504	0.2106				p.A112D		Atlas-SNP	.											.	IQCG	44	.	0			c.C335A						PASS	.	G	ASP/ALA,ASP/ALA	1969,2437	556.0+/-379.4	417,1135,651	234	252	246		335,335	-6.9	0	3	dbSNP_119	246	1428,7172	275.3+/-291.7	117,1194,2989	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	126,126	534,2329,3640	TT,TG,GG		16.6047,44.6891,26.1187	benign,benign	112/444,112/444	197665599	3397,9609	2203	4300	6503	SO:0001583	missense	84223	exon5			GTTGAGGCCATTG	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.335C>A	3.37:g.197665599G>T	ENSP00000265239:p.Ala112Asp	Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	257	257	1	NM_032263	Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	554	0.25366300366300365	255	0.5182926829268293	51	0.1408839779005525	121	0.21153846153846154	127	0.16754617414248021	G	7.330	0.618799	0.14129	0.446891	0.166047	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.44083	0.93;0.93;1.0;0.95	5.14	-6.87	0.01671	.	3.994100	0.00465	N	0.000112	T	0.00012	0.0000	L	0.45581	1.43	0.80722	P	0.0	B;P	0.36959	0.302;0.575	B;B	0.29353	0.101;0.093	T	0.39375	-0.9617	9	0.12103	T	0.63	2.991	5.5736	0.17210	0.1712:0.133:0.5647:0.1311	rs9880989;rs52808997;rs60834300;rs9880989	112;112	C9JKX8;Q9H095	.;IQCG_HUMAN	D	112;112;112;93	ENSP00000265239:A112D;ENSP00000407736:A112D;ENSP00000389897:A112D;ENSP00000406411:A93D	ENSP00000265239:A112D	A	-	2	0	IQCG	199149996	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.100000	0.03339	-0.975000	0.03546	0.558000	0.71614	GCC	G|0.736;T|0.264	0.264	strong		0.363	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		T	197665599	G	T	197665599	3	4	22	1	0	0	0	0	1	0	0	0	7810	1203	42	4	1028	4	IQCG	3	197665599	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6439	197665599	356831	2470	7578										
LMLN	89782	hgsc.bcm.edu	37	chr3	197701913	197701913	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttatgtcattattttcagGttgctccctgagaaaaagaa	7	6	2	2	rs7373165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:197701913G>T	ENST00000330198.4	+	3	340	c.318G>T	c.(316-318)gaG>gaT	p.E106D	LMLN_ENST00000332636.5_Splice_Site_p.E54D|LMLN_ENST00000482695.1_Splice_Site_p.E54D|LMLN_ENST00000420910.2_Splice_Site_p.E106D	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTATTTTCAGGTTGCTCCCTG	0.338													G|||	1049	0.209465	0.5197	0.1023	5008	,	,		18661	0.0109		0.1173	False		,,,				2504	0.1656				p.E106D		Atlas-SNP	.											.	LMLN	53	.	0			c.G318T						PASS	.	G	ASP/GLU,ASP/GLU	1969,2437	531.5+/-373.2	443,1083,677	64	78	74		318,318	3.6	1	3	dbSNP_116	74	940,7660	204.0+/-246.8	37,866,3397	yes	missense-near-splice,missense-near-splice	LMLN	NM_001136049.2,NM_033029.3	45,45	480,1949,4074	TT,TG,GG		10.9302,44.6891,22.3666	benign,benign	106/693,106/656	197701913	2909,10097	2203	4300	6503	SO:0001630	splice_region_variant	89782	exon3			TTTCAGGTTGCTC	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.318-1G>T	3.37:g.197701913G>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	57	28	0.491228	NM_001136049	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	374	0.17124542124542125	243	0.49390243902439024	37	0.10220994475138122	7	0.012237762237762238	87	0.11477572559366754	G	11.75	1.731285	0.30684	0.446891	0.109302	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.44	3.56	0.40772	.	0.259681	0.31233	N	0.008017	T	0.00012	0.0000	N	0.14661	0.345	0.41280	P	0.013098999999999972	B;B;B;B	0.09022	0.001;0.002;0.002;0.0	B;B;B;B	0.15052	0.012;0.005;0.006;0.003	T	0.47699	-0.9097	8	.	.	.	.	8.1783	0.31296	0.1096:0.0:0.8904:0.0	rs7373165;rs52803239;rs58900520;rs7373165	106;54;106;54	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	D	54;106;34;106;54	ENSP00000418324:E54D;ENSP00000328829:E106D;ENSP00000390872:E34D;ENSP00000410926:E106D;ENSP00000328611:E54D	.	E	+	3	2	LMLN	199186310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.868000	0.27982	1.084000	0.41184	0.558000	0.71614	GAG	G|0.784;T|0.216	0.216	strong		0.338	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	Missense_Mutation	T	197701913	G	T	197701913	5	4	22	1	0	0	0	0	0	0	1	0	8847	1275	44	4	328	4	LMLN	3	197701913	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36314	197701913	320517	2471	7579										
LMLN	89782	hgsc.bcm.edu	37	chr3	197712759	197712759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcccaccttttaattaTaggtatttttgttgttgttg	8	7	0	0	rs7373242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr3:197712759T>C	ENST00000330198.4	+	8	949	c.927T>C	c.(925-927)taT>taC	p.Y309Y	LMLN_ENST00000332636.5_Silent_p.Y257Y|LMLN_ENST00000420910.2_Silent_p.Y309Y|LMLN_ENST00000482695.1_Silent_p.Y257Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	309					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTTTAATTATAGGTATTTTT	0.378													T|||	1052	0.210064	0.5204	0.1023	5008	,	,		17831	0.0109		0.1173	False		,,,				2504	0.1677				p.Y309Y		Atlas-SNP	.											.	LMLN	53	.	0			c.T927C						PASS	.	T	,	1994,2412	558.9+/-380.1	448,1098,657	75	73	73		927,927	-1.2	1	3	dbSNP_116	73	947,7653	207.3+/-249.1	38,871,3391	no	coding-synonymous,coding-synonymous	LMLN	NM_001136049.2,NM_033029.3	,	486,1969,4048	CC,CT,TT		11.0116,45.2565,22.6126	,	309/693,309/656	197712759	2941,10065	2203	4300	6503	SO:0001819	synonymous_variant	89782	exon8			TAATTATAGGTAT	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.927T>C	3.37:g.197712759T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	103	58	0.563107	NM_001136049	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	CCDS3332.1																																																																																			T|0.785;C|0.215	0.215	strong		0.378	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		C	197712759	T	C	197712759	2	2	22	1	0	0	0	0	0	0	0	1	8847	1413	49	2		2	LMLN	3	197712759	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10846	197712759	309671	2472	7580										
ZNF141	7700	hgsc.bcm.edu	37	chr4	367290	367290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagacagtcctcaaaactgaAtgaacataagaaagttcata	6	7	2	4	rs61733102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:367290A>G	ENST00000240499.7	+	4	1213	c.1064A>G	c.(1063-1065)aAt>aGt	p.N355S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	355					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TCAAAACTGAATGAACATAAG	0.408													a|||	13	0.00259585	0.0098	0.0	5008	,	,		20026	0.0		0.0	False		,,,				2504	0.0				p.N355S		Atlas-SNP	.											.	ZNF141	48	.	0			c.A1064G						PASS	.	A	SER/ASN	33,4373	36.8+/-68.6	0,33,2170	37	40	39		1064	-2.5	0	4	dbSNP_129	39	0,8596		0,0,4298	no	missense	ZNF141	NM_003441.2	46	0,33,6468	GG,GA,AA		0.0,0.749,0.2538	benign	355/475	367290	33,12969	2203	4298	6501	SO:0001583	missense	7700	exon4			AACTGAATGAACA	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1064A>G	4.37:g.367290A>G	ENSP00000240499:p.Asn355Ser	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	61	31	0.508197	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	10.25	1.299693	0.23650	0.00749	0.0	ENSG00000131127	ENST00000240499	T	0.03272	3.99	1.24	-2.48	0.06423	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.25992	0.78	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.46762	-0.9168	8	.	.	.	.	2.176	0.03862	0.556:0.0:0.1963:0.2477	rs61733102	355	Q15928	ZN141_HUMAN	S	355	ENSP00000240499:N355S	.	N	+	2	0	ZNF141	357290	0.000000	0.05858	0.001000	0.08648	0.756000	0.42949	-0.780000	0.04654	-1.529000	0.01754	-0.856000	0.03024	AAT	A|0.998;G|0.002	0.002	strong		0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	367290	A	G	367290	3	3	22	1	0	0	0	0	1	0	0	0	17727	101	4	2	1078	2	ZNF141	4	367290	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10		367290	190786986	2473	7581										
ZNF721	170960	hgsc.bcm.edu	37	chr4	438067	438067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaattccattataaactccCttctgcactttacacacgtt	2	12	1	0	rs73070365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:438067C>T	ENST00000338977.5	-	2	201	c.153G>A	c.(151-153)aaG>aaA	p.K51K	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.K63K			Q8TF20	ZN721_HUMAN	zinc finger protein 721	51					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATAAACTCCCTTCTGCACTT	0.308													T|||	350	0.0698882	0.1967	0.0591	5008	,	,		20712	0.0		0.0358	False		,,,				2504	0.0133				p.V63V		Atlas-SNP	.											.	ZNF721	205	.	0			c.A189A						PASS	.	T		620,3442		45,530,1456	65	73	70		189	0	0	4	dbSNP_130	70	305,8181		2,301,3940	no	coding-synonymous	ZNF721	NM_133474.2		47,831,5396	TT,TC,CC		3.5942,15.2634,7.3717		63/924	438067	925,11623	2031	4243	6274	SO:0001819	synonymous_variant	170960	exon3			AACTCCCTTCTGC	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.153G>A	4.37:g.438067C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	140	58	0.414286	NM_133474	Q69YG7	Silent	SNP	ENST00000338977.5	37																																																																																				C|0.943;T|0.057	0.057	strong		0.308	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		T	438067	C	T	438067	2	4	22	1	0	0	0	0	0	0	0	1	18119	680	24	2		2	ZNF721	4	438067	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70777	438067	190716209	2474	7582										
PIGG	54872	hgsc.bcm.edu	37	chr4	517622	517622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccgtggctaatactggcCtgctgccggctgctgcgctc	13	14	0	0	rs13150531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:517622C>T	ENST00000453061.2	+	9	2095	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.A530A|PIGG_ENST00000504346.1_Silent_p.A574A|PIGG_ENST00000310340.5_Silent_p.A655A	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	663					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TAATACTGGCCTGCTGCCGGC	0.652													C|||	1123	0.224241	0.3964	0.0994	5008	,	,		16572	0.2202		0.1302	False		,,,				2504	0.181				p.A663A		Atlas-SNP	.											.	PIGG	86	.	0			c.C1989T						PASS	.	C	,	1447,2925		254,939,993	18	17	17		1989,1965	2.8	0.7	4	dbSNP_121	17	1018,7520		65,888,3316	no	coding-synonymous,coding-synonymous	PIGG	NM_001127178.1,NM_017733.3	,	319,1827,4309	TT,TC,CC		11.9232,33.097,19.0937	,	663/984,655/976	517622	2465,10445	2186	4269	6455	SO:0001819	synonymous_variant	54872	exon9			ACTGGCCTGCTGC		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1989C>T	4.37:g.517622C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_001127178	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	CCDS46992.1																																																																																			C|0.779;T|0.221	0.221	strong		0.652	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		T	517622	C	T	517622	2	4	22	1	0	0	0	0	0	0	0	1	11888	668	24	2		2	PIGG	4	517622	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79555	517622	190636654	2475	7583										
PIGG	54872	hgsc.bcm.edu	37	chr4	520853	520853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacaaagccgagctctctGtcctggctgccctctccctc	7	19	2	0	rs13114026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:520853G>A	ENST00000453061.2	+	10	2201	c.2095G>A	c.(2095-2097)Gtc>Atc	p.V699I	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V566I|PIGG_ENST00000504346.1_Missense_Mutation_p.V610I|PIGG_ENST00000310340.5_Missense_Mutation_p.V691I	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	699			V -> I (in dbSNP:rs13114026). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.L689_A694delLSVLAA(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGAGCTCTCTGTCCTGGCTGC	0.552													G|||	893	0.178315	0.2413	0.0908	5008	,	,		14770	0.2054		0.1292	False		,,,				2504	0.1779				p.V699I		Atlas-SNP	.											.	PIGG	86	.	1	Deletion - In frame(1)	ovary(1)	c.G2095A						PASS	.	G	ILE/VAL,ILE/VAL	1003,3403	370.8+/-319.7	117,769,1317	62	49	53		2095,2071	3.4	0	4	dbSNP_121	53	1035,7565	219.7+/-257.6	66,903,3331	yes	missense,missense	PIGG	NM_001127178.1,NM_017733.3	29,29	183,1672,4648	AA,AG,GG		12.0349,22.7644,15.6697	benign,benign	699/984,691/976	520853	2038,10968	2203	4300	6503	SO:0001583	missense	54872	exon10			CTCTCTGTCCTGG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2095G>A	4.37:g.520853G>A	ENSP00000415203:p.Val699Ile	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	269	133	0.494424	NM_001127178	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	396	0.1813186813186813	132	0.2682926829268293	37	0.10220994475138122	130	0.22727272727272727	97	0.1279683377308707	G	2.896	-0.228623	0.06022	0.227644	0.120349	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.09255	3.32;3.33;3.0;3.0	6.06	3.39	0.38822	.	0.669240	0.16139	N	0.227810	T	0.00012	0.0000	L	0.52011	1.625	0.58432	P	1.0000000000287557E-6	B;B;B	0.30236	0.274;0.022;0.169	B;B;B	0.30401	0.115;0.01;0.086	T	0.42932	-0.9422	9	0.12766	T	0.61	-2.4778	5.1107	0.14808	0.1524:0.0:0.5552:0.2924	rs13114026;rs59899952;rs13114026	566;699;691	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	I	691;699;610;566	ENSP00000311750:V691I;ENSP00000415203:V699I;ENSP00000424800:V610I;ENSP00000372494:V566I	ENSP00000311750:V691I	V	+	1	0	PIGG	510853	0.063000	0.20901	0.004000	0.12327	0.216000	0.24613	0.374000	0.20501	0.437000	0.26423	-0.145000	0.13849	GTC	G|0.827;A|0.173	0.173	strong		0.552	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	520853	G	A	520853	3	1	22	1	0	0	0	0	1	0	0	0	11888	1377	48	2	2133	2	PIGG	4	520853	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3231	520853	190633423	2476	7584										
PIGG	54872	hgsc.bcm.edu	37	chr4	533001	533001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatttgttctattccagtttTcacgtacatcgttttggtga	8	7	2	1	rs1127410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:533001T>C	ENST00000453061.2	+	13	2901	c.2795T>C	c.(2794-2796)tTc>tCc	p.F932S	PIGG_ENST00000504346.1_Missense_Mutation_p.F843S|PIGG_ENST00000383028.4_Missense_Mutation_p.F799S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.F924S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	932			F -> S (in dbSNP:rs1127410).		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATTCCAGTTTTCACGTACATC	0.388													C|||	1045	0.208666	0.3593	0.0994	5008	,	,		22096	0.2222		0.1282	False		,,,				2504	0.1513				p.F932S		Atlas-SNP	.											.	PIGG	86	.	0			c.T2795C						PASS	.	C	SER/PHE,SER/PHE	1425,2981	684.6+/-404.4	229,967,1007	191	167	175		2795,2771	5.9	0	4	dbSNP_86	175	1087,7513	768.9+/-407.6	74,939,3287	yes	missense,missense	PIGG	NM_001127178.1,NM_017733.3	155,155	303,1906,4294	CC,CT,TT		12.6395,32.3423,19.3142	benign,benign	932/984,924/976	533001	2512,10494	2203	4300	6503	SO:0001583	missense	54872	exon13			CAGTTTTCACGTA		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2795T>C	4.37:g.533001T>C	ENSP00000415203:p.Phe932Ser	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	225	113	0.502222	NM_001127178	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	453	0.20741758241758243	181	0.3678861788617886	40	0.11049723756906077	139	0.243006993006993	93	0.12269129287598944	C	2.913	-0.224932	0.06022	0.323423	0.126395	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.91	5.91	0.95273	.	0.318324	0.33959	N	0.004399	T	0.00012	0.0000	N	0.00368	-1.59	0.09310	P	0.9999999999996261	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36114	-0.9761	9	0.13853	T	0.58	-11.9767	13.132	0.59389	0.0:0.923:0.0:0.077	rs1127410;rs3183343;rs60748766;rs1127410	799;932;924	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	924;932;843;799;88	ENSP00000311750:F924S;ENSP00000415203:F932S;ENSP00000424800:F843S;ENSP00000372494:F799S	ENSP00000311750:F924S	F	+	2	0	PIGG	523001	0.839000	0.29477	0.008000	0.14137	0.251000	0.25915	3.208000	0.51114	1.534000	0.49203	-0.119000	0.15052	TTC	T|0.790;C|0.210	0.210	strong		0.388	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		C	533001	T	C	533001	3	2	22	1	0	0	0	0	1	0	0	0	11888	1783	62	2	2845	2	PIGG	4	533001	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12148	533001	190621275	2477	7585										
PDE6B	5158	hgsc.bcm.edu	37	chr4	660340	660340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatgatggaccggaacaaGgcggccgagctccccaagct	12	14	0	1	rs61739716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:660340G>A	ENST00000496514.1	+	20	2310	c.2289G>A	c.(2287-2289)aaG>aaA	p.K763K	PDE6B_ENST00000255622.6_Silent_p.K763K|PDE6B_ENST00000429163.2_Silent_p.K484K			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	763					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACCGGAACAAGGCGGCCGAGC	0.652													.|||	53	0.0105831	0.0378	0.0014	5008	,	,		15996	0.0		0.001	False		,,,				2504	0.001				p.K763K	GBM(71;463 1194 9848 25922 46834)	Atlas-SNP	.											.	PDE6B	80	.	0			c.G2289A						PASS	.	G	,,	159,4247	108.2+/-146.6	2,155,2046	96	78	84		2289,2289,1452	1	1	4	dbSNP_129	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	,,	2,155,6346	AA,AG,GG		0.0,3.6087,1.2225	,,	763/855,763/854,484/576	660340	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	5158	exon20			GAACAAGGCGGCC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2289G>A	4.37:g.660340G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	85	34	0.4	NM_001145291	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	CCDS33932.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	G	9.994	1.231604	0.22626	0.036087	0.0	ENSG00000133256	ENST00000461490	.	.	.	4.26	0.984	0.19773	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13150	-1.0520	4	.	.	.	.	6.8943	0.24247	0.5241:0.0:0.4759:0.0	rs61739716	.	.	.	K	44	.	.	R	+	2	0	PDE6B	650340	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.242000	0.32755	0.120000	0.18254	0.650000	0.86243	AGG	G|0.990;A|0.010	0.010	strong		0.652	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		A	660340	G	A	660340	2	1	22	1	0	0	0	0	0	0	0	1	11646	991	35	2		2	PDE6B	4	660340	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	127339	660340	190493936	2478	7586										
IDUA	3425	hgsc.bcm.edu	37	chr4	994452	994452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacccacctggacgggtacCtggaccttctcagggagaac	11	14	2	1	rs3755954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:994452C>T	ENST00000247933.4	+	3	440	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IDUA_ENST00000453894.1_Silent_p.L71L|IDUA_ENST00000514224.1_5'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	118					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGACGGGTACCTGGACCTTCT	0.672													C|||	812	0.162141	0.1626	0.2046	5008	,	,		16145	0.1478		0.2505	False		,,,				2504	0.0552				p.L118L		Atlas-SNP	.											.	IDUA	33	.	0			c.C352T						PASS	.	C		859,3543	333.3+/-302.9	105,649,1447	71	63	66		352	-0.7	0.6	4	dbSNP_107	66	2075,6525	358.1+/-331.0	250,1575,2475	yes	coding-synonymous	IDUA	NM_000203.3		355,2224,3922	TT,TC,CC		24.1279,19.5139,22.5658		118/654	994452	2934,10068	2201	4300	6501	SO:0001819	synonymous_variant	3425	exon3			GGGTACCTGGACC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.352C>T	4.37:g.994452C>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	242	121	0.5	NM_000203	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1																																																																																			C|0.784;T|0.216	0.216	strong		0.672	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	994452	C	T	994452	2	4	22	1	0	0	0	0	0	0	0	1	7504	680	24	2		2	IDUA	4	994452	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	334112	994452	190159824	2479	7587										
IDUA	3425	hgsc.bcm.edu	37	chr4	995868	995868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggacacccccatttacaaCgacgaggcggacccgctggt	12	15	0	0	rs114806891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:995868C>T	ENST00000247933.4	+	7	979	c.891C>T	c.(889-891)aaC>aaT	p.N297N	IDUA_ENST00000453894.1_Nonsense_Mutation_p.R284*|IDUA_ENST00000514224.1_Silent_p.N165N	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	297					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCATTTACAACGACGAGGCGG	0.682													C|||	150	0.0299521	0.0076	0.0548	5008	,	,		13632	0.0208		0.0557	False		,,,				2504	0.0256				p.N297N		Atlas-SNP	.											.	IDUA	33	.	0			c.C891T						PASS	.	C		65,4275		0,65,2105	24	26	26		891	-1.2	1	4	dbSNP_132	26	549,7959		21,507,3726	no	coding-synonymous	IDUA	NM_000203.3		21,572,5831	TT,TC,CC		6.4528,1.4977,4.779		297/654	995868	614,12234	2170	4254	6424	SO:0001819	synonymous_variant	3425	exon7			TTACAACGACGAG	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.891C>T	4.37:g.995868C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	18	0.327273	NM_000203	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1	73	0.033424908424908424	7	0.014227642276422764	21	0.058011049723756904	11	0.019230769230769232	34	0.044854881266490766	C	32	5.173413	0.94807	0.014977	0.064528	ENSG00000127415	ENST00000453894	.	.	.	4.91	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	0.484	10.2778	0.43521	0.0:0.3858:0.0:0.6142	.	.	.	.	X	284	.	ENSP00000396458:R284X	R	+	1	2	IDUA	985868	0.070000	0.21116	0.992000	0.48379	0.911000	0.54048	-0.575000	0.05861	-0.247000	0.09597	-0.254000	0.11334	CGA	C|0.965;T|0.035	0.035	strong		0.682	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	995868	C	T	995868	2	4	22	1	0	0	0	0	0	0	0	1	7504	535	19	1		1	IDUA	4	995868	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1416	995868	190158408	2480	7588										
FGFRL1	53834	hgsc.bcm.edu	37	chr4	1018705	1018705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgcagacccaaaaccgcCagggccacctgtggcctcct	9	17	1	1	rs4647930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1018705C>A	ENST00000398484.2	+	8	1665	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q	FGFRL1_ENST00000510644.1_Missense_Mutation_p.P362Q|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P362Q|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P362Q			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	362			P -> Q (in dbSNP:rs4647930). {ECO:0000269|PubMed:11031111, ECO:0000269|PubMed:11267671, ECO:0000269|PubMed:15489334}.		diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAAAACCGCCAGGGCCACCT	0.662													c|||	686	0.136981	0.031	0.1383	5008	,	,		13718	0.0823		0.2674	False		,,,				2504	0.2014				p.P362Q		Atlas-SNP	.											.	FGFRL1	77	.	0			c.C1085A						PASS	.		GLN/PRO,GLN/PRO,GLN/PRO	326,4068		16,294,1887	26	31	29		1085,1085,1085	3.9	0.9	4	dbSNP_111	29	2315,6269		345,1625,2322	yes	missense,missense,missense	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	76,76,76	361,1919,4209	AA,AC,CC		26.9688,7.4192,20.3498	benign,benign,benign	362/505,362/505,362/505	1018705	2641,10337	2197	4292	6489	SO:0001583	missense	53834	exon7			AACCGCCAGGGCC		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1085C>A	4.37:g.1018705C>A	ENSP00000381498:p.Pro362Gln	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	25	12	0.48	NM_001004356	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	311	0.1423992673992674	14	0.028455284552845527	56	0.15469613259668508	40	0.06993006993006994	201	0.26517150395778366	c	14.70	2.614939	0.46631	0.074192	0.269688	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.71	3.86	0.44501	.	0.055638	0.64402	D	0.000001	T	0.00039	0.0001	L	0.43152	1.355	0.09310	P	0.9999999153122	B	0.24533	0.105	B	0.20577	0.03	T	0.03095	-1.1073	9	0.40728	T	0.16	-4.2415	11.9103	0.52735	0.0:0.9146:0.0:0.0854	rs4647930;rs4647930	362	Q8N441	FGRL1_HUMAN	Q	362;332;362;362;362	ENSP00000381498:P362Q;ENSP00000425025:P362Q;ENSP00000423091:P362Q;ENSP00000264748:P362Q	ENSP00000264748:P362Q	P	+	2	0	FGFRL1	1008705	0.920000	0.31207	0.879000	0.34478	0.714000	0.41099	2.056000	0.41355	0.988000	0.38734	0.651000	0.88453	CCA	C|0.820;A|0.180	0.180	strong		0.662	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1018705	C	A	1018705	3	1	22	1	0	0	0	0	1	0	0	0	5869	594	21	4	1107	4	FGFRL1	4	1018705	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22837	1018705	190135571	2481	7589										
FGFRL1	53834	hgsc.bcm.edu	37	chr4	1019011	1019011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacttactgggcccaggccCagttgctggccctaagttgt	12	13	0	0	rs4647932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1019011C>T	ENST00000398484.2	+	8	1971	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.P464L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P464L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P464L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	464			P -> L (in dbSNP:rs4647932).		diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCCCAGGCCCAGTTGCTGGC	0.622													C|||	146	0.0291534	0.0068	0.0504	5008	,	,		14211	0.0218		0.0567	False		,,,				2504	0.0235				p.P464L		Atlas-SNP	.											FGFRL1,NS,carcinoma,0,1	FGFRL1	77	1	0			c.C1391T	GRCh37	CM067667	FGFRL1	M	rs4647932	PASS	.	C	LEU/PRO,LEU/PRO,LEU/PRO	76,4306		1,74,2116	15	17	16		1391,1391,1391	1.5	0	4	dbSNP_111	16	578,8016		25,528,3744	yes	missense,missense,missense	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	98,98,98	26,602,5860	TT,TC,CC		6.7256,1.7344,5.0401	benign,benign,benign	464/505,464/505,464/505	1019011	654,12322	2191	4297	6488	SO:0001583	missense	53834	exon7			CAGGCCCAGTTGC		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1391C>T	4.37:g.1019011C>T	ENSP00000381498:p.Pro464Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	141	74	0.524823	NM_001004356	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	72	0.03296703296703297	6	0.012195121951219513	21	0.058011049723756904	11	0.019230769230769232	34	0.044854881266490766	C	8.467	0.856661	0.17106	0.017344	0.067256	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.38	1.5	0.22942	.	0.581982	0.16507	N	0.211416	T	0.09291	0.0229	L	0.27053	0.805	0.46185	D	0.99891	B	0.02656	0.0	B	0.06405	0.002	T	0.24048	-1.0171	10	0.87932	D	0	-0.8596	5.6428	0.17572	0.156:0.6709:0.0:0.1731	rs4647932;rs61088669;rs4647932	464	Q8N441	FGRL1_HUMAN	L	464	ENSP00000381498:P464L;ENSP00000425025:P464L;ENSP00000423091:P464L;ENSP00000264748:P464L	ENSP00000264748:P464L	P	+	2	0	FGFRL1	1009011	0.001000	0.12720	0.001000	0.08648	0.085000	0.17905	0.468000	0.22051	0.327000	0.23409	-0.137000	0.14449	CCA	C|0.955;T|0.045	0.045	strong		0.622	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		T	1019011	C	T	1019011	3	4	22	1	0	0	0	0	1	0	0	0	5869	594	21	2	1413	2	FGFRL1	4	1019011	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	306	1019011	190135265	2482	7590										
SPON2	10417	hgsc.bcm.edu	37	chr4	1165748	1165748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtatttggccagggctcTggcggaacagatggactctc	14	10	2	1	rs6836335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1165748T>C	ENST00000290902.5	-	2	444	c.112A>G	c.(112-114)Aga>Gga	p.R38G	SPON2_ENST00000431380.1_Missense_Mutation_p.R38G	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	38	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.		R -> G (in dbSNP:rs6836335).		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCAGGGCTCTGGCGGAACAG	0.692													T|||	690	0.13778	0.2943	0.0994	5008	,	,		12371	0.001		0.1312	False		,,,				2504	0.1012				p.R38G		Atlas-SNP	.											.	SPON2	22	.	0			c.A112G						PASS	.	T	GLY/ARG,GLY/ARG,GLY/ARG	1280,3118		190,900,1109	36	49	45		112,112,112	0.2	0	4	dbSNP_116	45	1039,7541		64,911,3315	yes	missense,missense,missense	SPON2	NM_001128325.2,NM_001199021.1,NM_012445.3	125,125,125	254,1811,4424	CC,CT,TT		12.1096,29.1041,17.8687	benign,benign,benign	38/332,38/332,38/332	1165748	2319,10659	2199	4290	6489	SO:0001583	missense	10417	exon2			GGGCTCTGGCGGA	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.112A>G	4.37:g.1165748T>C	ENSP00000290902:p.Arg38Gly	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	146	62	0.424658	NM_012445	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	280	0.1282051282051282	139	0.28252032520325204	42	0.11602209944751381	1	0.0017482517482517483	98	0.12928759894459102	T	12.21	1.868543	0.32977	0.291041	0.121096	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765;ENST00000515004;ENST00000502483	T;T;T;T;T	0.32515	2.95;2.95;1.52;1.46;1.45	4.74	0.199	0.15175	Spondin, N-terminal (1);	0.838802	0.10780	N	0.634936	T	0.00012	0.0000	L	0.53249	1.67	0.54753	P	1.0999999999983245E-5	P;P;B	0.37688	0.605;0.459;0.28	B;B;B	0.36464	0.225;0.017;0.019	T	0.32079	-0.9920	9	0.25751	T	0.34	.	2.1123	0.03706	0.1008:0.322:0.2969:0.2803	rs6836335;rs6836335	38;38;38	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	G	38	ENSP00000290902:R38G;ENSP00000394832:R38G;ENSP00000424542:R38G;ENSP00000425871:R38G;ENSP00000422516:R38G	ENSP00000290902:R38G	R	-	1	2	SPON2	1155748	0.792000	0.28813	0.001000	0.08648	0.067000	0.16453	1.458000	0.35223	-0.012000	0.14223	0.334000	0.21626	AGA	T|0.847;C|0.153	0.153	strong		0.692	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			C	1165748	T	C	1165748	3	2	22	1	0	0	0	0	1	0	0	0	15082	1588	55	3	903	3	SPON2	4	1165748	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	146737	1165748	189988528	2483	7591										
KIAA1530	57654	hgsc.bcm.edu	37	chr4	1374769	1374769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagctgcagaagcaggaGcgcccgggtaggtctgggca	18	11	1	1	rs115722661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1374769G>A	ENST00000389851.4	+	12	2301	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	UVSSA_ENST00000511216.1_Silent_p.E618E|UVSSA_ENST00000512728.1_Silent_p.E169E|UVSSA_ENST00000511563.1_Silent_p.E169E|UVSSA_ENST00000507531.1_Silent_p.E618E	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	618					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AGAAGCAGGAGCGCCCGGGTA	0.667													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		15251	0.0		0.0	False		,,,				2504	0.0				p.E618E		Atlas-SNP	.											.	.	.	.	0			c.G1854A						PASS	.	G		67,4331	61.1+/-98.1	0,67,2132	30	34	33		1854	-3.4	0	4	dbSNP_133	33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KIAA1530	NM_020894.2		0,68,6430	AA,AG,GG		0.0116,1.5234,0.5232		618/710	1374769	68,12928	2199	4299	6498	SO:0001819	synonymous_variant	57654	exon12			GCAGGAGCGCCCG	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1854G>A	4.37:g.1374769G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	202	97	0.480198	NM_020894	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	CCDS33938.1																																																																																			G|0.995;A|0.005	0.005	strong		0.667	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1374769	G	A	1374769	2	1	22	1	0	0	0	0	0	0	0	1	8241	962	34	2		2	KIAA1530	4	1374769	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	209021	1374769	189779507	2484	7592										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388757	1388757	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcctgctcacacgtgcccaTgcggagtgcccgcctgctca					rs138170890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1388757T>C	ENST00000324803.4	+	1	3418	c.458T>C	c.(457-459)aTg>aCg	p.M153T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	153					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M153T(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		14705	0.0139		0.1441	False		,,,				2504	0.1943				p.M153T		Atlas-SNP	.											CRIPAK,colon,carcinoma,0,2	CRIPAK	185	2	1	Substitution - Missense(1)	NS(1)	c.T458C						scavenged	.						78	69	72					4																	1388757		2201	4281	6482	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.458T>C	4.37:g.1388757T>C	ENSP00000323978:p.Met153Thr	Somatic	31	1	0.0322581		WXS	Illumina HiSeq	Phase_I	78	9	0.115385	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	2.748	-0.260796	0.05791	.	.	ENSG00000179979	ENST00000324803	T	0.17370	2.28	0.948	-0.668	0.11392	Post-SET domain (1);	.	.	.	.	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.34304	-0.9834	9	0.38643	T	0.18	.	4.4755	0.11733	0.0:0.2357:0.0:0.7643	.	153	Q8N1N5	CRPAK_HUMAN	T	153	ENSP00000323978:M153T	ENSP00000323978:M153T	M	+	2	0	CRIPAK	1378757	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-1.643000	0.02004	-0.155000	0.11098	0.102000	0.15555	ATG	.	.	weak		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388757	T	C	1388757	3	2	22	1	0	0	0	0	1	0	0	0	3877	1464	51	2	460	2	CRIPAK	4	1388757	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13988	1388757	189765519	2485	7593	146	2								
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388759	1388759	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgctcacacgtgcccatgCggagtgcccgcctgctcaca					rs112233131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1388759C>T	ENST00000324803.4	+	1	3420	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	154					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R154W(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGCGGAGTGCCCG	0.701																																					p.R154W		Atlas-SNP	.											CRIPAK,rectum,carcinoma,0,3	CRIPAK	185	3	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C460T						scavenged	.						84	72	76					4																	1388759		2202	4282	6484	SO:0001583	missense	285464	exon1			CCCATGCGGAGTG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.460C>T	4.37:g.1388759C>T	ENSP00000323978:p.Arg154Trp	Somatic	28	1	0.0357143		WXS	Illumina HiSeq	Phase_I	80	14	0.175	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.074|0.074	-1.196289|-1.196289	0.01594|0.01594	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000382944|ENST00000324803	.|T	.|0.19806	.|2.12	0.948|0.948	-1.9|-1.9	0.07665|0.07665	.|.	.|.	.|.	.|.	.|.	T|T	0.07908|0.07908	0.0198|0.0198	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.22851	.|0.076	.|B	.|0.04013	.|0.001	T|T	0.18116|0.18116	-1.0347|-1.0347	6|9	0.02654|0.49607	T|T	1|0.09	.|.	0.8279|0.8279	0.01124|0.01124	0.1649:0.1747:0.3249:0.3355|0.1649:0.1747:0.3249:0.3355	.|.	.|154	.|Q8N1N5	.|CRPAK_HUMAN	V|W	137|154	.|ENSP00000323978:R154W	ENSP00000372402:A137V|ENSP00000323978:R154W	A|R	+|+	2|1	0|2	CRIPAK|CRIPAK	1378759|1378759	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-2.063000|-2.063000	0.01388|0.01388	-3.215000|-3.215000	0.00213|0.00213	-1.709000|-1.709000	0.00716|0.00716	GCG|CGG	C|0.966;T|0.034	0.034	strong		0.701	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388759	C	T	1388759	3	4	22	1	0	0	0	0	1	0	0	0	3877	759	27	1	462	1	CRIPAK	4	1388759	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	1388759	189765517	2486	7594	146	2								
TACC3	10460	hgsc.bcm.edu	37	chr4	1737502	1737502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtccttatacctcaagttCgaccccctcctgagggacag	8	15	1	1	rs11248073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1737502C>T	ENST00000313288.4	+	8	1795	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	563					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTCAAGTTCGACCCCCTCC	0.592													.|||	1954	0.390176	0.1263	0.3732	5008	,	,		17029	0.6935		0.3429	False		,,,				2504	0.4949				p.F563F	Ovarian(120;482 2294 11894 35824)	Atlas-SNP	.											.	TACC3	69	.	0			c.C1689T						PASS	.			790,3616	319.6+/-296.2	91,608,1504	137	110	119		1689	-7.1	0	4	dbSNP_120	119	3020,5580	465.7+/-366.6	533,1954,1813	no	coding-synonymous	TACC3	NM_006342.1		624,2562,3317	TT,TC,CC		35.1163,17.9301,29.2942		563/839	1737502	3810,9196	2203	4300	6503	SO:0001819	synonymous_variant	10460	exon8			CAAGTTCGACCCC	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1689C>T	4.37:g.1737502C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_006342	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1	861	0.3942307692307692	65	0.13211382113821138	132	0.36464088397790057	394	0.6888111888111889	270	0.3562005277044855	c	0.648	-0.810689	0.02798	0.179301	0.351163	ENSG00000013810	ENST00000470136	.	.	.	5.27	-7.14	0.01527	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999983626	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2683	16.5141	0.84294	0.0:0.1984:0.0:0.8016	rs11248073;rs11248073	.	.	.	X	200	.	.	R	+	1	2	TACC3	1707300	0.989000	0.36119	0.004000	0.12327	0.015000	0.08874	0.174000	0.16743	-1.407000	0.02043	-0.792000	0.03331	CGA	C|0.661;T|0.339	0.339	strong		0.592	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1737502	C	T	1737502	2	4	22	1	0	0	0	0	0	0	0	1	15500	883	31	1		1	TACC3	4	1737502	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	348743	1737502	189416774	2487	7595										
FGFR3	2261	hgsc.bcm.edu	37	chr4	1803251	1803251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgcggcgagcaccgcatTggaggcatcaaggtgggcgc	16	12	1	0	rs2305181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1803251T>C	ENST00000260795.2	+	4	705	c.603T>C	c.(601-603)atT>atC	p.I201I	FGFR3_ENST00000340107.4_Silent_p.I201I|FGFR3_ENST00000352904.1_Silent_p.I201I|FGFR3_ENST00000412135.2_Silent_p.I201I|FGFR3_ENST00000481110.2_Silent_p.I201I|FGFR3_ENST00000440486.2_Silent_p.I201I			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	201	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	AGCACCGCATTGGAGGCATCA	0.721		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				N|||	527	0.105232	0.3359	0.0461	5008	,	,		10686	0.0298		0.0119	False		,,,				2504	0.0092				p.I201I		Atlas-SNP	.		Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	.	FGFR3	3320	.	0			c.T603C						PASS	.	C	,,	1007,3249		98,811,1219	7	7	7		603,603,603	-6.3	0.9	4	dbSNP_100	7	68,8282		1,66,4108	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	,,	99,877,5327	CC,CT,TT		0.8144,23.6607,8.5277	,,	201/807,201/809,201/695	1803251	1075,11531	2128	4175	6303	SO:0001819	synonymous_variant	2261	exon5	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	CCGCATTGGAGGC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.603T>C	4.37:g.1803251T>C		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	36	15	0.416667	NM_001163213	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	CCDS3353.1																																																																																			T|0.879;C|0.121	0.121	strong		0.721	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		C	1803251	T	C	1803251	2	2	22	1	0	0	0	0	0	0	0	1	5867	1800	63	2		2	FGFR3	4	1803251	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65749	1803251	189351025	2488	7596										
LETM1	3954	hgsc.bcm.edu	37	chr4	1834666	1834666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctgggcctctcccctgtTtcccggatctgcggaagtgg	13	13	2	0	rs140729898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1834666T>C	ENST00000302787.2	-	6	1181	c.885A>G	c.(883-885)gaA>gaG	p.E295E		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	295	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTCCCCTGTTTCCCGGATCT	0.602													C|||	58	0.0115815	0.0015	0.0159	5008	,	,		17570	0.001		0.0358	False		,,,				2504	0.0082				p.E295E		Atlas-SNP	.											.	LETM1	48	.	0			c.A885G						PASS	.	C		35,4371	822.8+/-416.5	0,35,2168	64	59	61		885	3.8	1	4	dbSNP_134	61	300,8300	805.6+/-407.3	5,290,4005	no	coding-synonymous	LETM1	NM_012318.2		5,325,6173	CC,CT,TT		3.4884,0.7944,2.5757		295/740	1834666	335,12671	2203	4300	6503	SO:0001819	synonymous_variant	3954	exon6			CCCTGTTTCCCGG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.885A>G	4.37:g.1834666T>C		Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	217	108	0.497696	NM_012318	B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	CCDS3355.1																																																																																			T|0.977;C|0.023	0.023	strong		0.602	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			C	1834666	T	C	1834666	2	2	22	1	0	0	0	0	0	0	0	1	8734	1838	64	2		2	LETM1	4	1834666	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31415	1834666	189319610	2489	7597										
LETM1	3954	hgsc.bcm.edu	37	chr4	1843324	1843324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctactaccgagtcatcgCgaacagggcgcgaagagtgc	12	12	2	1	rs116753949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1843324C>T	ENST00000302787.2	-	3	640	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	115					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CGAGTCATCGCGAACAGGGCG	0.597													C|||	102	0.0203674	0.0045	0.0375	5008	,	,		18502	0.001		0.0557	False		,,,				2504	0.0133				p.R115H		Atlas-SNP	.											.	LETM1	48	.	0			c.G344A						PASS	.	C	HIS/ARG	55,4351	53.6+/-89.4	0,55,2148	83	85	84		344	2	0	4	dbSNP_132	84	570,8030	154.0+/-208.3	18,534,3748	yes	missense	LETM1	NM_012318.2	29	18,589,5896	TT,TC,CC		6.6279,1.2483,4.8055	possibly-damaging	115/740	1843324	625,12381	2203	4300	6503	SO:0001583	missense	3954	exon3			TCATCGCGAACAG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.344G>A	4.37:g.1843324C>T	ENSP00000305653:p.Arg115His	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_012318	B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	54	0.024725274725274724	4	0.008130081300813009	13	0.03591160220994475	1	0.0017482517482517483	36	0.047493403693931395	C	10.19	1.280899	0.23392	0.012483	0.066279	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.75	2.04	0.26737	.	1.715750	0.02455	N	0.085976	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.06643	-1.0815	9	0.13108	T	0.6	-0.6397	3.6478	0.08191	0.171:0.4396:0.0:0.3893	.	115;115	O95202-3;O95202	.;LETM1_HUMAN	H	115;75	.	ENSP00000305653:R115H	R	-	2	0	LETM1	1813122	0.000000	0.05858	0.004000	0.12327	0.084000	0.17831	0.233000	0.17911	0.632000	0.30432	0.563000	0.77884	CGC	C|0.957;T|0.043	0.043	strong		0.597	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			T	1843324	C	T	1843324	3	4	22	1	0	0	0	0	1	0	0	0	8734	768	27	1	1923	1	LETM1	4	1843324	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8658	1843324	189310952	2490	7598										
WHSC2	7469	hgsc.bcm.edu	37	chr4	1985668	1985668	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtctgagtggtaggggcGacagccggaggtgtggtggg	23	5	1	1	rs2234574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:1985668G>A	ENST00000411638.2	-	9	1224	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.V414V|NELFA_ENST00000542778.1_Silent_p.V268V	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	403					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGGTAGGGGCGACAGCCGGAG	0.682													G|||	137	0.0273562	0.0825	0.013	5008	,	,		13899	0.0129		0.002	False		,,,				2504	0.0041				p.V414V		Atlas-SNP	.											.	.	.	.	0			c.C1242T						PASS	.	G		286,4120	156.6+/-189.7	5,276,1922	42	45	44		1242	-2	0	4	dbSNP_98	44	13,8585	9.1+/-34.3	0,13,4286	no	coding-synonymous	WHSC2	NM_005663.4		5,289,6208	AA,AG,GG		0.1512,6.4911,2.2993		414/540	1985668	299,12705	2203	4299	6502	SO:0001819	synonymous_variant	7469	exon9			AGGGGCGACAGCC	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1209C>T	4.37:g.1985668G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	126	66	0.52381	NM_005663	A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37																																																																																				G|0.977;A|0.023	0.023	strong		0.682	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		A	1985668	G	A	1985668	2	1	22	1	0	0	0	0	0	0	0	1	17361	1045	37	1		1	WHSC2	4	1985668	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	142344	1985668	189168608	2491	7599										
FAM193A	8603	hgsc.bcm.edu	37	chr4	2661342	2661342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacagacaccatgaggcacAtgttatcgtcccggctgagc	10	13	1	3	rs17164077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:2661342A>G	ENST00000324666.5	+	7	925	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	FAM193A_ENST00000505311.1_Missense_Mutation_p.M192V|FAM193A_ENST00000502458.1_Missense_Mutation_p.M216V|FAM193A_ENST00000382839.3_Missense_Mutation_p.M192V|FAM193A_ENST00000545951.1_Missense_Mutation_p.M192V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	192			M -> V (in dbSNP:rs17164077). {ECO:0000269|PubMed:9734812}.							NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CATGAGGCACATGTTATCGTC	0.488													A|||	339	0.0676917	0.2443	0.0202	5008	,	,		20584	0.0		0.002	False		,,,				2504	0.0				p.M216V		Atlas-SNP	.											FAM193A,colon,carcinoma,0,1	FAM193A	103	1	0			c.A646G						PASS	.	A	VAL/MET	918,3488	354.9+/-312.8	96,726,1381	97	91	93		574	-2.5	0	4	dbSNP_123	93	7,8593	4.3+/-15.6	0,7,4293	yes	missense	FAM193A	NM_003704.3	21	96,733,5674	GG,GA,AA		0.0814,20.8352,7.1121	benign	192/1225	2661342	925,12081	2203	4300	6503	SO:0001583	missense	8603	exon8			AGGCACATGTTAT	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.574A>G	4.37:g.2661342A>G	ENSP00000324587:p.Met192Val	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	89	42	0.47191	NM_001256667	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	109	0.04990842490842491	101	0.20528455284552846	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	A	12.59	1.983129	0.34942	0.208352	8.14E-4	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.35048	1.41;1.82;1.4;1.43;1.33	5.82	-2.52	0.06346	.	0.074856	0.85682	N	0.000000	T	0.00039	0.0001	L	0.56769	1.78	0.23314	P	0.99792346	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.12863	-1.0531	9	0.56958	D	0.05	-7.4139	11.1394	0.48394	0.5558:0.0:0.4442:0.0	rs17164077	192;216;192;216;192	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	V	192;192;192;216;46	ENSP00000372290:M192V;ENSP00000324587:M192V;ENSP00000443617:M192V;ENSP00000427505:M216V;ENSP00000427260:M46V	ENSP00000324587:M192V	M	+	1	0	FAM193A	2631140	0.995000	0.38212	0.043000	0.18650	0.738000	0.42128	2.222000	0.42926	-0.672000	0.05266	0.459000	0.35465	ATG	A|0.937;G|0.063	0.063	strong		0.488	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		G	2661342	A	G	2661342	3	3	22	1	0	0	0	0	1	0	0	0	5524	217	8	2	592	2	FAM193A	4	2661342	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	675674	2661342	188492934	2492	7600										
TNIP2	79155	hgsc.bcm.edu	37	chr4	2747194	2747194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagtcaccttctgttttaaCagtcgattttcttcctgcaa	6	10	3	1	rs61734614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:2747194C>T	ENST00000315423.7	-	3	722	c.636G>A	c.(634-636)ctG>ctA	p.L212L	TNIP2_ENST00000510267.1_Silent_p.L105L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Silent_p.L212L	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTGTTTTAACAGTCGATTTT	0.458													C|||	47	0.00938498	0.0008	0.0187	5008	,	,		22935	0.0		0.0288	False		,,,				2504	0.0041				p.L212L		Atlas-SNP	.											.	TNIP2	28	.	0			c.G636A						PASS	.	C	,	18,4388	26.2+/-53.5	0,18,2185	147	125	132		315,636	1.2	0	4	dbSNP_129	132	199,8401	86.6+/-149.0	2,195,4103	no	coding-synonymous,coding-synonymous	TNIP2	NM_001161527.1,NM_024309.3	,	2,213,6288	TT,TC,CC		2.314,0.4085,1.6685	,	105/323,212/430	2747194	217,12789	2203	4300	6503	SO:0001819	synonymous_variant	79155	exon3			TTTTAACAGTCGA	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.636G>A	4.37:g.2747194C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	144	77	0.534722	NM_024309		Silent	SNP	ENST00000315423.7	37	CCDS3362.1																																																																																			C|0.984;T|0.016	0.016	strong		0.458	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		T	2747194	C	T	2747194	2	4	22	1	0	0	0	0	0	0	0	1	16312	465	17	2		2	TNIP2	4	2747194	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85852	2747194	188407082	2493	7601										
SH3BP2	6452	hgsc.bcm.edu	37	chr4	2826912	2826912	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgaaaagaaagacctgccCttggacaccaggtgagcccg	11	13	0	3	rs16843413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:2826912C>G	ENST00000356331.5	+	5	678	c.417C>G	c.(415-417)ccC>ccG	p.P139P	SH3BP2_ENST00000452765.2_Silent_p.P139P|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Silent_p.P167P|SH3BP2_ENST00000435136.2_Silent_p.P139P|SH3BP2_ENST00000503393.2_Silent_p.P196P|SH3BP2_ENST00000511747.1_Silent_p.P139P	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	139					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AAGACCTGCCCTTGGACACCA	0.697									Cherubism				c|||	735	0.146765	0.292	0.1499	5008	,	,		17726	0.0645		0.0616	False		,,,				2504	0.1207				p.P196P		Atlas-SNP	.											.	SH3BP2	43	.	0			c.C588G						PASS	.	C	,,,	1025,3359		137,751,1304	44	41	42		417,501,588,417	-3.1	0.1	4	dbSNP_123	42	516,8064		23,470,3797	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SH3BP2	NM_001122681.1,NM_001145855.1,NM_001145856.1,NM_003023.4	,,,	160,1221,5101	GG,GC,CC		6.014,23.3805,11.8868	,,,	139/562,167/590,196/619,139/562	2826912	1541,11423	2192	4290	6482	SO:0001819	synonymous_variant	6452	exon5	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	CCTGCCCTTGGAC	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.417C>G	4.37:g.2826912C>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	148	62	0.418919	NM_001145856	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	CCDS33944.1																																																																																			C|0.875;G|0.125	0.125	strong		0.697	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		G	2826912	C	G	2826912	2	3	22	1	0	0	0	0	0	0	0	1	14245	668	24	4		4	SH3BP2	4	2826912	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79718	2826912	188327364	2494	7602										
ADD1	118	hgsc.bcm.edu	37	chr4	2896419	2896419	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgctgcacgcccggacgtGaagtgcgtcgtgcacattca	12	12	1	1	rs112813723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:2896419G>A	ENST00000398129.1	+	5	722	c.702G>A	c.(700-702)gtG>gtA	p.V234V	ADD1_ENST00000398125.1_Silent_p.V234V|ADD1_ENST00000355842.3_Silent_p.V234V|ADD1_ENST00000446856.1_Silent_p.V234V|ADD1_ENST00000513328.2_Silent_p.V234V|ADD1_ENST00000264758.7_Silent_p.V234V|ADD1_ENST00000398123.2_Silent_p.V234V|ADD1_ENST00000503455.2_Silent_p.V234V			P35611	ADDA_HUMAN	adducin 1 (alpha)	234					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)		GCCCGGACGTGAAGTGCGTCG	0.542													G|||	49	0.00978435	0.0356	0.0014	5008	,	,		14014	0.0		0.001	False		,,,				2504	0.0				p.V234V	Esophageal Squamous(71;505 1201 20414 34538 37449)	Atlas-SNP	.											.	ADD1	56	.	0			c.G702A						PASS	.	G	,,,	140,4266	98.9+/-137.6	3,134,2066	63	54	57		702,702,702,702	-4.3	0.1	4	dbSNP_132	57	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADD1	NM_001119.4,NM_014189.3,NM_014190.3,NM_176801.2	,,,	3,136,6364	AA,AG,GG		0.0233,3.1775,1.0918	,,,	234/738,234/769,234/632,234/663	2896419	142,12864	2203	4300	6503	SO:0001819	synonymous_variant	118	exon6			GGACGTGAAGTGC	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.702G>A	4.37:g.2896419G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	294	148	0.503401	NM_014190	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	CCDS43205.1																																																																																			G|0.988;A|0.012	0.012	strong		0.542	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		A	2896419	G	A	2896419	2	1	22	1	0	0	0	0	0	0	0	1	304	1277	45	2		2	ADD1	4	2896419	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69507	2896419	188257857	2495	7603										
NOP14	8602	hgsc.bcm.edu	37	chr4	2955361	2955361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcatcttctcgttgagcTtgtctctccctctggggaaa	11	11	4	1	rs111987238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:2955361T>G	ENST00000314262.6	-	5	672	c.624A>C	c.(622-624)caA>caC	p.Q208H	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.Q208H|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.Q208H|NOP14_ENST00000416614.2_Missense_Mutation_p.Q208H	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	208					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCGTTGAGCTTGTCTCTCCC	0.498													T|||	15	0.00299521	0.0106	0.0014	5008	,	,		19504	0.0		0.0	False		,,,				2504	0.0				p.Q208H		Atlas-SNP	.											.	NOP14	69	.	0			c.A624C						PASS	.	T	HIS/GLN	58,4348	56.8+/-93.2	0,58,2145	229	213	219		624	-1.6	0.2	4	dbSNP_132	219	0,8600		0,0,4300	yes	missense	NOP14	NM_003703.1	24	0,58,6445	GG,GT,TT		0.0,1.3164,0.4459	probably-damaging	208/858	2955361	58,12948	2203	4300	6503	SO:0001583	missense	8602	exon5			TTGAGCTTGTCTC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.624A>C	4.37:g.2955361T>G	ENSP00000315674:p.Gln208His	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	115	55	0.478261	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	T	12.38	1.921617	0.33908	0.013164	0.0	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.64	-1.62	0.08372	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.91818	3.245	0.48762	D	0.999708	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69953	-0.5005	10	0.87932	D	0	-37.2025	11.6825	0.51466	0.0:0.4263:0.0:0.5737	.	208;208	E9PFK5;P78316	.;NOP14_HUMAN	H	208;208;208;208;107	ENSP00000405068:Q208H;ENSP00000315674:Q208H;ENSP00000427415:Q208H;ENSP00000381146:Q208H	ENSP00000315674:Q208H	Q	-	3	2	NOP14	2925159	0.987000	0.35691	0.169000	0.22859	0.121000	0.20230	0.274000	0.18680	-0.361000	0.08125	-0.415000	0.06103	CAA	T|0.995;G|0.005	0.005	strong		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		G	2955361	T	G	2955361	3	3	22	1	0	0	0	0	1	0	0	0	10536	1606	56	5	2005	5	NOP14	4	2955361	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58942	2955361	188198915	2496	7604										
GRK4	2868	hgsc.bcm.edu	37	chr4	3039150	3039150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatatcgagcagttctcggTggtgaaagggatctacctgg	15	7	2	1	rs1801058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:3039150T>C	ENST00000398052.4	+	14	1800	c.1457T>C	c.(1456-1458)gTg>gCg	p.V486A	GRK4_ENST00000398051.4_Missense_Mutation_p.V454A|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.V486A|GRK4_ENST00000345167.6_Missense_Mutation_p.V454A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	486	AGC-kinase C-terminal.		V -> A (in dbSNP:rs1801058). {ECO:0000269|PubMed:1338872, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8135832, ECO:0000269|PubMed:8626439, ECO:0000269|PubMed:9092566}.		G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTCTCGGTGGTGAAAGGG	0.532											OREG0016045	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	3472	0.693291	0.91	0.6427	5008	,	,		19188	0.5337		0.5696	False		,,,				2504	0.728				p.V486A		Atlas-SNP	.											.	GRK4	72	.	0			c.T1457C	GRCh37	CM066866	GRK4	M	rs1801058	PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL	3727,679	763.0+/-413.2	1583,561,59	224	216	219		1361,1457,1457	-6.2	0	4	dbSNP_89	219	5057,3543	630.5+/-398.4	1460,2137,703	yes	missense,missense,missense	GRK4	NM_001004056.1,NM_001004057.1,NM_182982.2	64,64,64	3043,2698,762	CC,CT,TT		41.1977,15.4108,32.4619	benign,benign,benign	454/547,486/533,486/579	3039150	8784,4222	2203	4300	6503	SO:0001583	missense	2868	exon14			TCTCGGTGGTGAA		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1457T>C	4.37:g.3039150T>C	ENSP00000381129:p.Val486Ala	Somatic	220	0	0	608	WXS	Illumina HiSeq	Phase_I	225	224	0.995556	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	1394	0.6382783882783882	452	0.9186991869918699	231	0.638121546961326	282	0.493006993006993	429	0.5659630606860159	T	10.83	1.459936	0.26248	0.845892	0.588023	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.73	-6.21	0.02065	AGC-kinase, C-terminal (2);	0.207018	0.40728	N	0.001032	T	0.00012	0.0000	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.002;0.001;0.003;0.001	T	0.39961	-0.9588	9	0.51188	T	0.08	-0.1758	13.1461	0.59463	0.0:0.3815:0.0:0.6185	rs1801058;rs52812762;rs56574318;rs56725050;rs1801058	454;454;486;486	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	A	454;486;454;486	ENSP00000381128:V454A;ENSP00000381129:V486A;ENSP00000264764:V454A;ENSP00000427445:V486A	ENSP00000264764:V454A	V	+	2	0	GRK4	3008948	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.985000	0.40668	-2.045000	0.00910	-1.430000	0.01095	GTG	T|0.327;C|0.673	0.673	strong		0.532	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		C	3039150	T	C	3039150	3	2	22	1	0	0	0	0	1	0	0	0	6791	1696	59	2	1511	2	GRK4	4	3039150	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	83789	3039150	188115126	2497	7605										
HTT	3064	hgsc.bcm.edu	37	chr4	3137674	3137674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagaaaacttacacagaGgggctcatcattatacaggg	10	8	2	2	rs363075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:3137674G>A	ENST00000355072.5	+	20	2822	c.2677G>A	c.(2677-2679)Ggg>Agg	p.G893R		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	893			G -> R (in dbSNP:rs363075).		anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTTACACAGAGGGGCTCATCA	0.383													G|||	119	0.023762	0.003	0.0259	5008	,	,		17994	0.0		0.0736	False		,,,				2504	0.0235				p.G893R		Atlas-SNP	.											.	HTT	221	.	0			c.G2677A						PASS	.	G	ARG/GLY	49,3645		1,47,1799	155	142	146		2677	4.8	1	4	dbSNP_79	146	492,7702		6,480,3611	yes	missense	HTT	NM_002111.6	125	7,527,5410	AA,AG,GG		6.0044,1.3265,4.5508	probably-damaging	893/3143	3137674	541,11347	1847	4097	5944	SO:0001583	missense	3064	exon20			CACAGAGGGGCTC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2677G>A	4.37:g.3137674G>A	ENSP00000347184:p.Gly893Arg	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	271	134	0.494465	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	56	0.02564102564102564	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	46	0.06068601583113457	G	23.5	4.419932	0.83559	0.013265	0.060044	ENSG00000197386	ENST00000355072	T	0.05580	3.42	5.68	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.02047	0.0064	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00093	-1.2080	10	0.62326	D	0.03	.	14.9025	0.70689	0.069:0.0:0.931:0.0	rs363075;rs52792844;rs363075	893	P42858	HD_HUMAN	R	893	ENSP00000347184:G893R	ENSP00000347184:G893R	G	+	1	0	HTT	3107472	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.780000	0.75063	1.403000	0.46800	0.655000	0.94253	GGG	G|0.959;A|0.041	0.041	strong		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3137674	G	A	3137674	3	1	22	1	0	0	0	0	1	0	0	0	7457	1000	35	2	2755	2	HTT	4	3137674	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98524	3137674	188016602	2498	7606										
HTT	3064	hgsc.bcm.edu	37	chr4	3148570	3148570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctaggaagagctgtaccGttgggatggccacaatgatt	13	7	1	2	rs35892913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:3148570G>A	ENST00000355072.5	+	25	3335	c.3190G>A	c.(3190-3192)Gtt>Att	p.V1064I		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1064			V -> I (in dbSNP:rs35892913).		anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGCTGTACCGTTGGGATGGC	0.463													G|||	118	0.0235623	0.003	0.0259	5008	,	,		20235	0.0		0.0736	False		,,,				2504	0.0225				p.V1064I		Atlas-SNP	.											.	HTT	221	.	0			c.G3190A						PASS	.	G	ILE/VAL	54,3962		1,52,1955	311	311	311		3190	3.8	0.1	4	dbSNP_126	311	496,7854		6,484,3685	yes	missense	HTT	NM_002111.6	29	7,536,5640	AA,AG,GG		5.9401,1.3446,4.4477	benign	1064/3143	3148570	550,11816	2008	4175	6183	SO:0001583	missense	3064	exon25			TGTACCGTTGGGA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3190G>A	4.37:g.3148570G>A	ENSP00000347184:p.Val1064Ile	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	203	96	0.472906	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	56	0.02564102564102564	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	46	0.06068601583113457	G	2.349	-0.349196	0.05173	0.013446	0.059401	ENSG00000197386	ENST00000355072	T	0.05199	3.48	4.68	3.84	0.44239	Armadillo-type fold (1);	0.186617	0.46145	D	0.000316	T	0.00440	0.0014	N	0.20685	0.6	0.26172	N	0.97984	B	0.20164	0.042	B	0.13407	0.009	T	0.44832	-0.9302	10	0.20519	T	0.43	.	7.9796	0.30175	0.2354:0.0:0.7646:0.0	rs35892913	1064	P42858	HD_HUMAN	I	1064	ENSP00000347184:V1064I	ENSP00000347184:V1064I	V	+	1	0	HTT	3118368	1.000000	0.71417	0.062000	0.19696	0.145000	0.21501	3.671000	0.54576	1.210000	0.43336	-0.244000	0.11960	GTT	G|0.955;A|0.045	0.045	strong		0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3148570	G	A	3148570	3	1	22	1	0	0	0	0	1	0	0	0	7457	1145	40	1	3288	1	HTT	4	3148570	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10896	3148570	188005706	2499	7607										
HTT	3064	hgsc.bcm.edu	37	chr4	3189547	3189547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaagagatggggacagtaCttcaacgctagaagaacaca	11	7	1	3	rs363125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:3189547C>A	ENST00000355072.5	+	39	5304	c.5159C>A	c.(5158-5160)aCt>aAt	p.T1720N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1720			T -> N (in dbSNP:rs363125).		anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGGGACAGTACTTCAACGCTA	0.373													A|||	947	0.189097	0.4834	0.1225	5008	,	,		20071	0.0089		0.1083	False		,,,				2504	0.1074				p.T1720N		Atlas-SNP	.											.	HTT	221	.	0			c.C5159A						PASS	.	A	ASN/THR	1484,2210		308,868,671	119	111	113		5159	-11.3	0	4	dbSNP_79	113	960,7248		44,872,3188	yes	missense	HTT	NM_002111.6	65	352,1740,3859	AA,AC,CC		11.6959,40.1733,20.5344	benign	1720/3143	3189547	2444,9458	1847	4104	5951	SO:0001583	missense	3064	exon39			ACAGTACTTCAAC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5159C>A	4.37:g.3189547C>A	ENSP00000347184:p.Thr1720Asn	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	362	0.16575091575091574	234	0.47560975609756095	42	0.11602209944751381	2	0.0034965034965034965	84	0.11081794195250659	A	1.789	-0.479891	0.04383	0.401733	0.116959	ENSG00000197386	ENST00000355072	T	0.04706	3.57	5.66	-11.3	0.00108	.	0.988029	0.08277	N	0.970573	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48234	-0.9053	9	0.17369	T	0.5	.	8.4339	0.32775	0.177:0.4818:0.2725:0.0687	rs363125;rs363125	1720	P42858	HD_HUMAN	N	1720	ENSP00000347184:T1720N	ENSP00000347184:T1720N	T	+	2	0	HTT	3159345	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.105000	0.03323	-2.325000	0.00638	-0.256000	0.11100	ACT	C|0.812;A|0.188	0.188	strong		0.373	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3189547	C	A	3189547	3	1	22	1	0	0	0	0	1	0	0	0	7457	565	20	4	5313	4	HTT	4	3189547	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40977	3189547	187964729	2500	7608										
C4orf6	10141	hgsc.bcm.edu	37	chr4	5527102	5527102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagactcacaattcaaagaaCcaattttttacaattttttt	2	7	2	2	rs886532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5527102C>A	ENST00000195455.2	+	1	220	c.45C>A	c.(43-45)aaC>aaA	p.N15K	C4orf6_ENST00000515342.1_Intron	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	15			N -> K (in dbSNP:rs886532).		nervous system development (GO:0007399)					large_intestine(1)|prostate(1)	2						attcaaagaaccaatttttta	0.368													C|||	338	0.067492	0.1732	0.013	5008	,	,		17380	0.0645		0.003	False		,,,				2504	0.0327				p.N15K		Atlas-SNP	.											.	C4orf6	6	.	0			c.C45A						PASS	.	C	LYS/ASN	623,3781		36,551,1615	33	36	35		45	-0.4	0.1	4	dbSNP_86	35	13,8573		0,13,4280	yes	missense	C4orf6	NM_005750.2	94	36,564,5895	AA,AC,CC		0.1514,14.1462,4.8961	benign	15/94	5527102	636,12354	2202	4293	6495	SO:0001583	missense	10141	exon1			AAAGAACCAATTT	D82070	CCDS3381.1	4p16	2012-02-24			ENSG00000082929	ENSG00000082929			13716	protein-coding gene	gene with protein product						9016955	Standard	NM_005750		Approved	aC1	uc003gii.3	Q99440	OTTHUMG00000125492	ENST00000195455.2:c.45C>A	4.37:g.5527102C>A	ENSP00000195455:p.Asn15Lys	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	122	71	0.581967	NM_005750	Q17R65	Missense_Mutation	SNP	ENST00000195455.2	37	CCDS3381.1	130	0.05952380952380952	83	0.16869918699186992	4	0.011049723756906077	40	0.06993006993006994	3	0.00395778364116095	C	2.778	-0.254175	0.05829	0.141462	0.001514	ENSG00000082929	ENST00000195455	T	0.53206	0.63	0.225	-0.451	0.12214	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.80722	P	0.0	D	0.54772	0.968	P	0.59546	0.859	T	0.13045	-1.0524	6	0.87932	D	0	.	.	.	.	rs886532;rs52825485;rs886532	15	Q99440	CD006_HUMAN	K	15	ENSP00000195455:N15K	ENSP00000195455:N15K	N	+	3	2	C4orf6	5578003	0.164000	0.22935	0.132000	0.22025	0.130000	0.20726	-0.711000	0.05019	-0.709000	0.05008	-0.704000	0.03662	AAC	C|0.932;A|0.068	0.068	strong		0.368	C4orf6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246818.1	NM_005750		A	5527102	C	A	5527102	3	1	22	1	0	0	0	0	1	0	0	0	2278	506	18	4	47	4	C4orf6	4	5527102	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2337555	5527102	185627174	2501	7609										
EVC2	132884	hgsc.bcm.edu	37	chr4	5570221	5570221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccatcgctctcagctgcGtggtccacatgtctctcggt	10	16	2	0	rs12511039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5570221G>A	ENST00000344408.5	-	20	3560	c.3507C>T	c.(3505-3507)caC>caT	p.H1169H	EVC2_ENST00000310917.2_Silent_p.H1089H|EVC2_ENST00000344938.1_Silent_p.H1169H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1169					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H1169H(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCTCAGCTGCGTGGTCCACAT	0.697													G|||	2208	0.440895	0.1566	0.3703	5008	,	,		13114	0.876		0.3111	False		,,,				2504	0.5603				p.H1169H		Atlas-SNP	.											EVC2,NS,lymphoid_neoplasm,0,1	EVC2	202	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C3507T						PASS	.	G	,	749,3653		74,601,1526	24	24	24		3267,3507	3.5	0	4	dbSNP_120	24	2584,6014		374,1836,2089	no	coding-synonymous,coding-synonymous	EVC2	NM_001166136.1,NM_147127.4	,	448,2437,3615	AA,AG,GG		30.0535,17.015,25.6385	,	1089/1229,1169/1309	5570221	3333,9667	2201	4299	6500	SO:0001819	synonymous_variant	132884	exon20			AGCTGCGTGGTCC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3507C>T	4.37:g.5570221G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																			G|0.656;A|0.344	0.344	strong		0.697	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5570221	G	A	5570221	2	1	22	1	0	0	0	0	0	0	0	1	5286	1136	40	1		1	EVC2	4	5570221	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43119	5570221	185584055	2502	7610										
EVC2	132884	hgsc.bcm.edu	37	chr4	5624670	5624670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccggcatcctcaaccgTtcggaaggcctcgccgacgg	13	16	1	0	rs730469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5624670T>C	ENST00000344408.5	-	14	2148	c.2095A>G	c.(2095-2097)Acg>Gcg	p.T699A	EVC2_ENST00000310917.2_Missense_Mutation_p.T619A|EVC2_ENST00000344938.1_Missense_Mutation_p.T699A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	699			T -> A (in dbSNP:rs730469).		smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTCAACCGTTCGGAAGGCC	0.632													C|||	2592	0.517572	0.8775	0.3963	5008	,	,		15234	0.62		0.2555	False		,,,				2504	0.2812				p.T699A		Atlas-SNP	.											EVC2,colon,carcinoma,+2,1	EVC2	202	1	0			c.A2095G						PASS	.	C	ALA/THR,ALA/THR	3407,999		1328,751,124	49	55	53		1855,2095	0.4	0	4	dbSNP_86	53	2393,6207		340,1713,2247	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	58,58	1668,2464,2371	CC,CT,TT		27.8256,22.6736,44.5948	benign,benign	619/1229,699/1309	5624670	5800,7206	2203	4300	6503	SO:0001583	missense	132884	exon14			CAACCGTTCGGAA	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2095A>G	4.37:g.5624670T>C	ENSP00000342144:p.Thr699Ala	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	168	74	0.440476	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	1097	0.5022893772893773	421	0.8556910569105691	141	0.38950276243093923	334	0.583916083916084	201	0.26517150395778366	C	0.004	-2.288290	0.00248	0.773264	0.278256	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73897	-0.79;-0.78;-0.79	5.0	0.373	0.16178	.	0.802333	0.11785	N	0.529747	T	0.00012	0.0000	N	0.04297	-0.235	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	9	0.06757	T	0.87	-0.5273	1.4581	0.02390	0.1583:0.1958:0.1568:0.489	rs730469;rs58423551;rs730469	699	Q86UK5	LBN_HUMAN	A	699;619;699	ENSP00000339954:T699A;ENSP00000311683:T619A;ENSP00000342144:T699A	ENSP00000311683:T619A	T	-	1	0	EVC2	5675571	0.205000	0.23458	0.000000	0.03702	0.003000	0.03518	1.480000	0.35464	-0.092000	0.12417	-0.642000	0.03964	ACG	T|0.515;C|0.485	0.485	strong		0.632	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		C	5624670	T	C	5624670	3	2	22	1	0	0	0	0	1	0	0	0	5286	1725	60	2	1867	2	EVC2	4	5624670	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	54449	5624670	185529606	2503	7611										
EVC	2121	hgsc.bcm.edu	37	chr4	5721049	5721049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggaaactggctccccatcAaggaggaggaagagagaagt	14	8	1	2	rs35870680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5721049A>G	ENST00000264956.6	+	2	433	c.249A>G	c.(247-249)tcA>tcG	p.S83S	EVC_ENST00000509451.1_Silent_p.S83S|EVC_ENST00000382674.2_Silent_p.S83S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	83					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCTCCCCATCAAGGAGGAGGA	0.502													G|||	348	0.0694888	0.0076	0.0692	5008	,	,		19872	0.001		0.16	False		,,,				2504	0.1309				p.S83S		Atlas-SNP	.											.	EVC	90	.	0			c.A249G						PASS	.	G		135,4271	813.8+/-416.2	2,131,2070	222	216	218		249	-5.5	0	4	dbSNP_126	218	1286,7314	758.9+/-407.5	82,1122,3096	no	coding-synonymous	EVC	NM_153717.2		84,1253,5166	GG,GA,AA		14.9535,3.064,10.9257		83/993	5721049	1421,11585	2203	4300	6503	SO:0001819	synonymous_variant	2121	exon2			CCCATCAAGGAGG	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.249A>G	4.37:g.5721049A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	141	72	0.510638	NM_153717		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																			A|0.893;G|0.107	0.107	strong		0.502	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			G	5721049	A	G	5721049	2	3	22	1	0	0	0	0	0	0	0	1	5285	117	5	2		2	EVC	4	5721049	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	96379	5721049	185433227	2504	7612										
EVC	2121	hgsc.bcm.edu	37	chr4	5743512	5743512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagtcagatgatgaactaTaccagaagatcctttcaaaa	7	7	2	6	rs6414624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5743512T>C	ENST00000264956.6	+	6	956	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	EVC_ENST00000509451.1_Missense_Mutation_p.Y258H|EVC_ENST00000382674.2_Missense_Mutation_p.Y258H	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	258			Y -> H (in dbSNP:rs6414624). {ECO:0000269|PubMed:10700184}.		cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGATGAACTATACCAGAAGAT	0.289													T|||	3730	0.744808	0.5015	0.7839	5008	,	,		15627	0.9048		0.7932	False		,,,				2504	0.8313				p.Y258H		Atlas-SNP	.											.	EVC	90	.	0			c.T772C						PASS	.	T	HIS/TYR	2284,2120	571.5+/-383.1	597,1090,515	50	52	51		772	2.7	0.8	4	dbSNP_116	51	6902,1688	727.5+/-406.6	2770,1362,163	yes	missense	EVC	NM_153717.2	83	3367,2452,678	CC,CT,TT		19.6508,48.1381,29.3058	probably-damaging	258/993	5743512	9186,3808	2202	4295	6497	SO:0001583	missense	2121	exon6			GAACTATACCAGA	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.772T>C	4.37:g.5743512T>C	ENSP00000264956:p.Tyr258His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	1689	0.7733516483516484	263	0.5345528455284553	295	0.8149171270718232	523	0.9143356643356644	608	0.8021108179419525	T	5.677	0.309460	0.10733	0.518619	0.803492	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.55588	0.51;0.51;0.64	5.12	2.72	0.32119	.	0.735547	0.13245	N	0.402567	T	0.00012	0.0000	L	0.55481	1.735	0.80722	P	0.0	B	0.14012	0.009	B	0.16722	0.016	T	0.28073	-1.0055	9	0.20046	T	0.44	.	8.084	0.30760	0.0:0.1664:0.0:0.8336	rs6414624;rs57157110;rs6414624	258	P57679	EVC_HUMAN	H	258	ENSP00000264956:Y258H;ENSP00000372120:Y258H;ENSP00000426774:Y258H	ENSP00000264956:Y258H	Y	+	1	0	EVC	5794413	0.946000	0.32159	0.785000	0.31869	0.188000	0.23474	1.926000	0.40084	0.309000	0.22966	0.533000	0.62120	TAC	T|0.274;C|0.726	0.726	strong		0.289	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			C	5743512	T	C	5743512	3	2	22	1	0	0	0	0	1	0	0	0	5285	1406	49	2	794	2	EVC	4	5743512	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22463	5743512	185410764	2505	7613										
EVC	2121	hgsc.bcm.edu	37	chr4	5795412	5795412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgagggcaccatccgcggCgtcttgggccgactgggcgg	17	14	1	0	rs11737221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:5795412C>T	ENST00000264956.6	+	13	2038	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.G618G	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	618					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCATCCGCGGCGTCTTGGGCC	0.642													C|||	1672	0.333866	0.0681	0.2896	5008	,	,		14377	0.5278		0.3091	False		,,,				2504	0.5501				p.G618G		Atlas-SNP	.											EVC,caecum,carcinoma,0,1	EVC	90	1	0			c.C1854T						scavenged	.	C		409,3917		26,357,1780	19	19	19		1854	-8.3	0	4	dbSNP_120	19	2408,5964		361,1686,2139	no	coding-synonymous	EVC	NM_153717.2		387,2043,3919	TT,TC,CC		28.7625,9.4545,22.1846		618/993	5795412	2817,9881	2163	4186	6349	SO:0001819	synonymous_variant	2121	exon13			CCGCGGCGTCTTG	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1854C>T	4.37:g.5795412C>T		Somatic	187	2	0.0106952		WXS	Illumina HiSeq	Phase_I	211	90	0.42654	NM_153717		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																			C|0.742;T|0.258	0.258	strong		0.642	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			T	5795412	C	T	5795412	2	4	22	1	0	0	0	0	0	0	0	1	5285	755	27	1		1	EVC	4	5795412	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51900	5795412	185358864	2506	7614										
WFS1	7466	hgsc.bcm.edu	37	chr4	6293696	6293696	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctgcagaagcagaggcgCatgctggagcgcctggtcag	15	12	1	2	rs1801213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6293696C>G	ENST00000226760.1	+	6	854	c.684C>G	c.(682-684)cgC>cgG	p.R228R	WFS1_ENST00000503569.1_Silent_p.R228R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGCAGAGGCGCATGCTGGAGC	0.642													G|||	3788	0.75639	0.6959	0.7378	5008	,	,		16959	0.9038		0.6849	False		,,,				2504	0.773				p.R228R		Atlas-SNP	.											WFS1,NS,carcinoma,0,1	WFS1	71	1	0			c.C684G						PASS	.	G	,	2938,1454		985,968,243	47	40	42		684,684	1.5	1	4	dbSNP_89	42	5870,2728		1999,1872,428	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	2984,2840,671	GG,GC,CC		31.7283,33.1056,32.194	,	228/891,228/891	6293696	8808,4182	2196	4299	6495	SO:0001819	synonymous_variant	7466	exon6			GAGGCGCATGCTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.684C>G	4.37:g.6293696C>G		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	255	254	0.996078	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1	1662	0.760989010989011	345	0.7012195121951219	266	0.7348066298342542	536	0.9370629370629371	515	0.679419525065963	G	10.35	1.324588	0.24080	0.668944	0.682717	ENSG00000109501	ENST00000506362	.	.	.	4.37	1.53	0.23141	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999124776	.	.	.	.	.	.	T	0.18335	-1.0340	3	.	.	.	-44.9845	6.9398	0.24486	0.2177:0.2494:0.5329:0.0	rs1801213;rs2230718;rs7672995	.	.	.	G	94	.	.	A	+	2	0	WFS1	6344597	0.811000	0.29063	0.994000	0.49952	0.974000	0.67602	-0.097000	0.11042	0.069000	0.16605	-0.216000	0.12614	GCA	C|0.294;G|0.706	0.706	strong		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			G	6293696	C	G	6293696	2	3	22	1	0	0	0	0	0	0	0	1	17357	697	25	4		4	WFS1	4	6293696	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	498284	6293696	184860580	2507	7615										
WFS1	7466	hgsc.bcm.edu	37	chr4	6302519	6302519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctcatcttcttcttcatcGtcagcaacctcaccatcgac	4	17	7	0	rs1801212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6302519G>A	ENST00000226760.1	+	8	1167	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	WFS1_ENST00000503569.1_Missense_Mutation_p.V333I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	333			V -> I (in dbSNP:rs1801212). {ECO:0000269|PubMed:10521293, ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:11709537, ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:18688868, ECO:0000269|PubMed:9771706, ECO:0000269|PubMed:9817917}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTTCTTCATCGTCAGCAACCT	0.542													a|||	4429	0.884385	0.9939	0.7767	5008	,	,		21069	0.995		0.7296	False		,,,				2504	0.8579				p.V333I		Atlas-SNP	.											.	WFS1	71	.	0			c.G997A						PASS	.		ILE/VAL,ILE/VAL	4172,234	137.3+/-173.1	1980,212,11	435	292	340		997,997	3.4	1	4	dbSNP_89	340	6224,2376	396.2+/-345.3	2242,1740,318	yes	missense,missense	WFS1	NM_001145853.1,NM_006005.3	29,29	4222,1952,329	AA,AG,GG		27.6279,5.3109,20.0677	benign,benign	333/891,333/891	6302519	10396,2610	2203	4300	6503	SO:0001583	missense	7466	exon8			TTCATCGTCAGCA	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.997G>A	4.37:g.6302519G>A	ENSP00000226760:p.Val333Ile	Somatic	458	0	0		WXS	Illumina HiSeq	Phase_I	480	476	0.991667	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	1887	0.864010989010989	488	0.991869918699187	281	0.7762430939226519	572	1.0	546	0.7203166226912929	a	0.723	-0.782904	0.02907	0.946891	0.723721	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.85411	-1.98;-1.98	4.6	3.4	0.38934	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00170	-1.935	0.50632	P	1.1499999999997623E-4	B	0.06786	0.001	B	0.01281	0.0	T	0.42224	-0.9464	9	0.06099	T	0.92	-32.8103	8.3817	0.32474	0.8357:0.0:0.1643:0.0	rs1801212;rs17719467;rs56429316;rs58906820;rs1801212	333	O76024	WFS1_HUMAN	I	333	ENSP00000423337:V333I;ENSP00000226760:V333I	ENSP00000226760:V333I	V	+	1	0	WFS1	6353420	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.738000	0.55067	0.169000	0.19679	-0.376000	0.06991	GTC	G|0.170;A|0.830	0.830	strong		0.542	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6302519	G	A	6302519	3	1	22	1	0	0	0	0	1	0	0	0	17357	1145	40	1	1023	1	WFS1	4	6302519	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8823	6302519	184851757	2508	7616										
WFS1	7466	hgsc.bcm.edu	37	chr4	6302707	6302707	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtggagcaggccgaggtCaacttcggctggaaccacct	14	11	1	0	rs1801206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6302707C>T	ENST00000226760.1	+	8	1355	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	WFS1_ENST00000503569.1_Silent_p.V395V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	395					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCGAGGTCAACTTCGGCT	0.597													c|||	3213	0.641573	0.4455	0.6715	5008	,	,		22107	0.9038		0.6213	False		,,,				2504	0.636				p.V395V		Atlas-SNP	.											.	WFS1	71	.	0			c.C1185T	GRCh37	CM021362	WFS1	M	rs1801206	PASS	.		,	2048,2358	566.4+/-381.9	457,1134,612	194	188	190		1185,1185	-5	0.9	4	dbSNP_89	190	5145,3455	635.8+/-399.0	1524,2097,679	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	1981,3231,1291	TT,TC,CC		40.1744,46.4821,44.6948	,	395/891,395/891	6302707	7193,5813	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			CGAGGTCAACTTC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1185C>T	4.37:g.6302707C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	207	207	1	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																			C|0.405;T|0.595	0.595	strong		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			T	6302707	C	T	6302707	2	4	22	1	0	0	0	0	0	0	0	1	17357	813	29	2		2	WFS1	4	6302707	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	188	6302707	184851569	2509	7617										
WFS1	7466	hgsc.bcm.edu	37	chr4	6303022	6303022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacctggtcgtcctcaaCgtcagcgtcccgtgcctgct	11	17	2	0	rs1801214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6303022C>T	ENST00000226760.1	+	8	1670	c.1500C>T	c.(1498-1500)aaC>aaT	p.N500N	WFS1_ENST00000503569.1_Silent_p.N500N	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	500					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGTCCTCAACGTCAGCGTCC	0.577													c|||	3653	0.729433	0.6921	0.7046	5008	,	,		22288	0.9077		0.6352	False		,,,				2504	0.7106				p.N500N		Atlas-SNP	.											.	WFS1	71	.	0			c.C1500T						PASS	.		,	2980,1426	464.7+/-354.0	991,998,214	126	88	101	http://www.ncbi.nlm.nih.gov/pubmed?term	1500,1500	-0.7	0.7	4	dbSNP_89	101	5244,3356	498.6+/-374.8	1575,2094,631	yes	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	2566,3092,845	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	39.0233,32.365,36.7676	,	500/891,500/891	6303022	8224,4782	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			CCTCAACGTCAGC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1500C>T	4.37:g.6303022C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																			A|0.000;C|0.334;G|0.000;T|0.666	0.666	strong		0.577	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			T	6303022	C	T	6303022	2	4	22	1	0	0	0	0	0	0	0	1	17357	535	19	1		1	WFS1	4	6303022	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	315	6303022	184851254	2510	7618										
WFS1	7466	hgsc.bcm.edu	37	chr4	6303354	6303354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtgtgcccctgctgttgcGctggtggaccaaggccagct	14	12	0	0	rs734312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6303354G>A	ENST00000226760.1	+	8	2002	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	WFS1_ENST00000503569.1_Missense_Mutation_p.R611H	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	611			R -> H (in dbSNP:rs734312). {ECO:0000269|PubMed:10521293, ECO:0000269|PubMed:10624825, ECO:0000269|PubMed:10679252, ECO:0000269|PubMed:10760554, ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:18688868, ECO:0000269|PubMed:9771706, ECO:0000269|Ref.5}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.R611H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTGCTGTTGCGCTGGTGGACC	0.637													G|||	2350	0.469249	0.0318	0.5476	5008	,	,		20311	0.8105		0.5626	False		,,,				2504	0.5573				p.R611H		Atlas-SNP	.											WFS1,NS,carcinoma,+1,2	WFS1	71	2	1	Substitution - Missense(1)	stomach(1)	c.G1832A	GRCh37	CM000447	WFS1	M	rs734312	PASS	.	G	HIS/ARG,HIS/ARG	515,3891	237.1+/-249.0	40,435,1728	199	184	189		1832,1832	4.6	1	4	dbSNP_86	189	4703,3897	606.5+/-395.1	1267,2169,864	yes	missense,missense	WFS1	NM_001145853.1,NM_006005.3	29,29	1307,2604,2592	AA,AG,GG		45.314,11.6886,40.1199	probably-damaging,probably-damaging	611/891,611/891	6303354	5218,7788	2203	4300	6503	SO:0001583	missense	7466	exon8			TGTTGCGCTGGTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1832G>A	4.37:g.6303354G>A	ENSP00000226760:p.Arg611His	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	189	98	0.518519	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	1136	0.5201465201465202	31	0.06300813008130081	202	0.5580110497237569	480	0.8391608391608392	423	0.558047493403694	G	7.640	0.680750	0.14907	0.116886	0.54686	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93604	-3.25;-3.25	5.41	4.57	0.56435	.	0.111903	0.64402	N	0.000013	T	0.00012	0.0000	M	0.80982	2.52	0.22142	P	0.999335408	B	0.26318	0.146	B	0.22601	0.04	T	0.47368	-0.9123	9	0.48119	T	0.1	-38.9527	13.2566	0.60083	0.0769:0.0:0.9231:0.0	rs734312;rs1046313;rs3733193;rs17719619;rs58910458;rs734312	611	O76024	WFS1_HUMAN	H	611	ENSP00000423337:R611H;ENSP00000226760:R611H	ENSP00000226760:R611H	R	+	2	0	WFS1	6354255	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.704000	0.61831	1.295000	0.44724	-0.258000	0.10820	CGC	G|0.550;A|0.450	0.450	strong		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6303354	G	A	6303354	3	1	22	1	0	0	0	0	1	0	0	0	17357	1087	38	1	1858	1	WFS1	4	6303354	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	332	6303354	184850922	2511	7619										
WFS1	7466	hgsc.bcm.edu	37	chr4	6303955	6303955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccagcagcgagttcaaGagcgtgctgctcagcctgcg	15	13	2	1	rs1046314	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6303955G>A	ENST00000226760.1	+	8	2603	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	WFS1_ENST00000503569.1_Silent_p.K811K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	811					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGTTCAAGAGCGTGCTGC	0.672													G|||	3271	0.653155	0.4871	0.6772	5008	,	,		17476	0.9038		0.6213	False		,,,				2504	0.635				p.K811K		Atlas-SNP	.											.	WFS1	71	.	0			c.G2433A	GRCh37	CM021365	WFS1	M	rs1046314	PASS	.	G	,	2229,2177	578.5+/-384.7	542,1145,516	42	46	44		2433,2433	1.2	0.1	4	dbSNP_86	44	5131,3469	623.6+/-397.5	1517,2097,686	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	2059,3242,1202	AA,AG,GG		40.3372,49.4099,43.4107	,	811/891,811/891	6303955	7360,5646	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			GTTCAAGAGCGTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2433G>A	4.37:g.6303955G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	72	42	0.583333	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																			G|0.382;A|0.618	0.618	strong		0.672	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6303955	G	A	6303955	2	1	22	1	0	0	0	0	0	0	0	1	17357	933	33	2		2	WFS1	4	6303955	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	601	6303955	184850321	2512	7620										
WFS1	7466	hgsc.bcm.edu	37	chr4	6304087	6304087	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgcatggcccagctctcAcccaccaggcggcacgtgaa	10	16	1	1	rs1046316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6304087A>G	ENST00000226760.1	+	8	2735	c.2565A>G	c.(2563-2565)tcA>tcG	p.S855S	WFS1_ENST00000503569.1_Silent_p.S855S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	855					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCCAGCTCTCACCCACCAGGC	0.612													G|||	3906	0.779952	0.7806	0.7478	5008	,	,		20044	0.9038		0.6859	False		,,,				2504	0.771				p.S855S		Atlas-SNP	.											WFS1,NS,carcinoma,0,2	WFS1	71	2	0			c.A2565G	GRCh37	CM021366	WFS1	M	rs1046316	scavenged	.	G	,	3349,1057	374.6+/-321.3	1264,821,118	47	45	46		2565,2565	-6.1	0	4	dbSNP_86	46	5908,2692	420.7+/-353.5	2028,1852,420	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	3292,2673,538	GG,GA,AA		31.3023,23.99,28.8252	,	855/891,855/891	6304087	9257,3749	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			GCTCTCACCCACC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2565A>G	4.37:g.6304087A>G		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																			A|0.271;G|0.729	0.729	strong		0.612	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			G	6304087	A	G	6304087	2	3	22	1	0	0	0	0	0	0	0	1	17357	146	6	2		2	WFS1	4	6304087	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	132	6304087	184850189	2513	7621										
PPP2R2C	5522	hgsc.bcm.edu	37	chr4	6325086	6325086	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaggttgttggtggcggcGatggcaatgatgttctcagc	15	7	1	1	rs3796403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6325086G>A	ENST00000382599.4	-	9	1503	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PPP2R2C_ENST00000506140.1_Silent_p.I422I|PPP2R2C_ENST00000515571.1_Silent_p.I412I|PPP2R2C_ENST00000335585.5_Silent_p.I429I|PPP2R2C_ENST00000507294.1_Silent_p.I422I			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	429					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGGTGGCGGCGATGGCAATGA	0.577													G|||	3274	0.653754	0.4266	0.6614	5008	,	,		18326	0.9385		0.5795	False		,,,				2504	0.7382				p.I429I		Atlas-SNP	.											.	PPP2R2C	63	.	0			c.C1287T						PASS	.	G	,,,	2013,2393	560.8+/-380.6	460,1093,650	197	144	162		1266,1266,1236,1287	-0.2	0.7	4	dbSNP_107	162	5064,3536	631.1+/-398.4	1488,2088,724	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	1948,3181,1374	AA,AG,GG		41.1163,45.6877,45.5867	,,,	422/441,422/441,412/431,429/448	6325086	7077,5929	2203	4300	6503	SO:0001819	synonymous_variant	5522	exon9			GGCGGCGATGGCA	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1287C>T	4.37:g.6325086G>A		Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	389	388	0.997429	NM_181876	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37																																																																																				G|0.407;A|0.593	0.593	strong		0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		A	6325086	G	A	6325086	2	1	22	1	0	0	0	0	0	0	0	1	12386	1048	37	1		1	PPP2R2C	4	6325086	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20999	6325086	184829190	2514	7622										
PPP2R2C	5522	hgsc.bcm.edu	37	chr4	6374263	6374263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatactgaagctcctgtcGgtgatggccaggtgccagag	15	9	0	3	rs35410672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6374263G>A	ENST00000382599.4	-	5	828	c.612C>T	c.(610-612)acC>acT	p.T204T	PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.T187T|PPP2R2C_ENST00000335585.5_Silent_p.T204T|PPP2R2C_ENST00000506140.1_Silent_p.T197T|PPP2R2C_ENST00000507294.1_Silent_p.T197T			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	204					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGCTCCTGTCGGTGATGGCCA	0.582													G|||	153	0.0305511	0.1051	0.0101	5008	,	,		20869	0.0		0.0	False		,,,				2504	0.0072				p.T204T		Atlas-SNP	.											.	PPP2R2C	63	.	0			c.C612T						PASS	.	G	,,,	362,4044	185.7+/-212.7	20,322,1861	152	122	132		591,591,561,612	-3.2	1	4	dbSNP_126	132	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	20,327,6156	AA,AG,GG		0.0581,8.2161,2.8218	,,,	197/441,197/441,187/431,204/448	6374263	367,12639	2203	4300	6503	SO:0001819	synonymous_variant	5522	exon5			CCTGTCGGTGATG	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.612C>T	4.37:g.6374263G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	148	60	0.405405	NM_181876	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37																																																																																				G|0.973;A|0.027	0.027	strong		0.582	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		A	6374263	G	A	6374263	2	1	22	1	0	0	0	0	0	0	0	1	12386	1103	39	1		1	PPP2R2C	4	6374263	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49177	6374263	184780013	2515	7623										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6596360	6596360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgagctcggtgtctcgGtgcagtatgccacgctgggc	15	13	1	0	rs2301795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6596360G>A	ENST00000285599.3	+	7	994	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	MAN2B2_ENST00000504248.1_Missense_Mutation_p.V269M	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	320			V -> M (in dbSNP:rs2301795). {ECO:0000269|PubMed:17974005}.		mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CGGTGTCTCGGTGCAGTATGC	0.602													G|||	2281	0.455471	0.4387	0.4755	5008	,	,		20498	0.3879		0.5388	False		,,,				2504	0.4479				p.V320M		Atlas-SNP	.											.	MAN2B2	80	.	0			c.G958A						PASS	.	G	MET/VAL	1930,2476	549.9+/-377.9	431,1068,704	127	95	106		958	2.8	0	4	dbSNP_100	106	4455,4145	588.1+/-392.3	1138,2179,983	yes	missense	MAN2B2	NM_015274.1	21	1569,3247,1687	AA,AG,GG		48.1977,43.8039,49.0927	benign	320/1010	6596360	6385,6621	2203	4300	6503	SO:0001583	missense	23324	exon7			GTCTCGGTGCAGT	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.958G>A	4.37:g.6596360G>A	ENSP00000285599:p.Val320Met	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	120	61	0.508333	NM_015274	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	1021	0.4674908424908425	233	0.4735772357723577	169	0.46685082872928174	216	0.3776223776223776	403	0.5316622691292876	G	6.829	0.522162	0.13066	0.438039	0.518023	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.76709	-1.04;-1.04	4.52	2.76	0.32466	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.350241	0.28927	N	0.013700	T	0.00012	0.0000	L	0.53671	1.685	0.39621	P	0.029962000000000044	B;B;B	0.33299	0.37;0.126;0.407	B;B;B	0.40477	0.33;0.138;0.167	T	0.45833	-0.9234	9	0.40728	T	0.16	-6.2654	8.0974	0.30837	0.0849:0.0:0.7574:0.1577	rs2301795;rs17724940;rs60981402;rs2301795	269;320;320	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	M	320;269	ENSP00000285599:V320M;ENSP00000423129:V269M	ENSP00000285599:V320M	V	+	1	0	MAN2B2	6647261	0.998000	0.40836	0.001000	0.08648	0.090000	0.18270	3.562000	0.53777	0.341000	0.23771	0.543000	0.68304	GTG	G|0.522;A|0.478	0.478	strong		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6596360	G	A	6596360	3	1	22	1	0	0	0	0	1	0	0	0	9217	1261	44	2	984	2	MAN2B2	4	6596360	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222097	6596360	184557916	2516	7624										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6602378	6602378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcaggacattttgcctcGgtctacaacccgctggcctg	10	15	1	0	rs73796294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6602378G>A	ENST00000285599.3	+	10	1470	c.1434G>A	c.(1432-1434)tcG>tcA	p.S478S	MAN2B2_ENST00000504248.1_Silent_p.S427S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	478					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATTTTGCCTCGGTCTACAACC	0.597													G|||	186	0.0371406	0.1331	0.013	5008	,	,		19561	0.0		0.001	False		,,,				2504	0.0				p.S478S		Atlas-SNP	.											.	MAN2B2	80	.	0			c.G1434A						PASS	.	G		515,3891	236.8+/-248.8	34,447,1722	155	122	133		1434	-7.5	0	4	dbSNP_130	133	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	MAN2B2	NM_015274.1		34,453,6016	AA,AG,GG		0.0698,11.6886,4.0058		478/1010	6602378	521,12485	2203	4300	6503	SO:0001819	synonymous_variant	23324	exon10			TGCCTCGGTCTAC	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1434G>A	4.37:g.6602378G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	40	0.506329	NM_015274	Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	CCDS33951.1	65	0.02976190476190476	62	0.12601626016260162	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	4.539	0.100114	0.08731	0.116886	6.98E-4	ENSG00000013288	ENST00000505907	.	.	.	4.67	-7.52	0.01341	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.42109	P	0.008626000000000023	.	.	.	.	.	.	T	0.26744	-1.0094	3	.	.	.	-3.5583	0.9855	0.01445	0.1784:0.1741:0.2587:0.3887	.	.	.	.	Q	477	.	.	R	+	2	0	MAN2B2	6653279	0.014000	0.17966	0.003000	0.11579	0.008000	0.06430	-0.480000	0.06559	-1.075000	0.03129	-1.224000	0.01588	CGG	G|0.959;A|0.041	0.041	strong		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6602378	G	A	6602378	2	1	22	1	0	0	0	0	0	0	0	1	9217	1103	39	1		1	MAN2B2	4	6602378	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6018	6602378	184551898	2517	7625										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6611560	6611560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaattacacgtatgcaatccGctcccggctcacccatgtgc	8	15	1	0	rs61733399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6611560G>A	ENST00000285599.3	+	13	2078	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R630H|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	681					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TATGCAATCCGCTCCCGGCTC	0.572													G|||	86	0.0171725	0.0613	0.0072	5008	,	,		18387	0.0		0.0	False		,,,				2504	0.0				p.R681H		Atlas-SNP	.											.	MAN2B2	80	.	0			c.G2042A						PASS	.		HIS/ARG	207,4199	128.6+/-165.4	4,199,2000	76	78	78		2042	0.2	0	4	dbSNP_129	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MAN2B2	NM_015274.1	29	4,202,6297	AA,AG,GG		0.0349,4.6981,1.6146	benign	681/1010	6611560	210,12796	2203	4300	6503	SO:0001583	missense	23324	exon13			CAATCCGCTCCCG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2042G>A	4.37:g.6611560G>A	ENSP00000285599:p.Arg681His	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	100	55	0.55	NM_015274	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	30|30	0.013736263736263736|0.013736263736263736	25|25	0.0508130081300813|0.0508130081300813	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	g|g	0.366|0.366	-0.936607|-0.936607	0.02340|0.02340	0.046981|0.046981	3.49E-4|3.49E-4	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.78364	.|-1.17;-1.17	4.28|4.28	0.172|0.172	0.15031|0.15031	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|0.616553	.|0.17323	.|N	.|0.178421	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.01705|0.01705	-0.755|-0.755	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.08055	.|0.003;0.003;0.003	T|T	0.11348|0.11348	-1.0591|-1.0591	5|10	.|0.14656	.|T	.|0.56	-9.5755|-9.5755	4.7133|4.7133	0.12882|0.12882	0.4981:0.0:0.0855:0.4164|0.4981:0.0:0.0855:0.4164	rs61733399|rs61733399	.|630;681;681	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	680|681;630	.|ENSP00000285599:R681H;ENSP00000423129:R630H	.|ENSP00000285599:R681H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6662461|6662461	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.083000|0.083000	0.17756|0.17756	0.078000|0.078000	0.14761|0.14761	-0.229000|-0.229000	0.09854|0.09854	-0.482000|-0.482000	0.04802|0.04802	GCT|CGC	G|0.981;A|0.019	0.019	strong		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6611560	G	A	6611560	3	1	22	1	0	0	0	0	1	0	0	0	9217	1087	38	1	2092	1	MAN2B2	4	6611560	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9182	6611560	184542716	2518	7626										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6621677	6621677	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgcaggcgctggggtcCgtggtggcagtggaggagcg	22	8	0	0	rs147252633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:6621677C>G	ENST00000285599.3	+	18	2874	c.2838C>G	c.(2836-2838)tcC>tcG	p.S946S	MAN2B2_ENST00000504248.1_Silent_p.S895S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	946					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CGCTGGGGTCCGTGGTGGCAG	0.652													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		17764	0.0		0.0	False		,,,				2504	0.0				p.S946S		Atlas-SNP	.											.	MAN2B2	80	.	0			c.C2838G						PASS	.	C		58,4348	53.6+/-89.4	0,58,2145	50	55	53		2838	-0.9	0	4	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,58,6445	GG,GC,CC		0.0,1.3164,0.4459		946/1010	6621677	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	23324	exon18			GGGGTCCGTGGTG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2838C>G	4.37:g.6621677C>G		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	181	88	0.486188	NM_015274	Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	CCDS33951.1																																																																																			C|0.994;G|0.006	0.006	strong		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		G	6621677	C	G	6621677	2	3	22	1	0	0	0	0	0	0	0	1	9217	639	23	4		4	MAN2B2	4	6621677	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10117	6621677	184532599	2519	7627										
SORCS2	57537	hgsc.bcm.edu	37	chr4	7741941	7741941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctaggcaaccactcaggcGtggtcctgagcatcaactcc	9	15	2	1	rs189272447		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:7741941G>A	ENST00000507866.2	+	27	3539	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V987M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1144					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCACTCAGGCGTGGTCCTGAG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16669	0.0		0.0	False		,,,				2504	0.0				p.V1144M		Atlas-SNP	.											.	SORCS2	98	.	0			c.G3430A						PASS	.	G	MET/VAL	4,4138		0,4,2067	44	48	47		3430	3.8	0.9	4		47	1,8397		0,1,4198	yes	missense	SORCS2	NM_020777.2	21	0,5,6265	AA,AG,GG		0.0119,0.0966,0.0399	probably-damaging	1144/1160	7741941	5,12535	2071	4199	6270	SO:0001583	missense	57537	exon27			TCAGGCGTGGTCC	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3430G>A	4.37:g.7741941G>A	ENSP00000422185:p.Val1144Met	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	19	8	0.421053	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.3	4.122447	0.77436	9.66E-4	1.19E-4	ENSG00000184985	ENST00000507866;ENST00000329016;ENST00000505529	T;T	0.19394	2.17;2.15	3.78	3.78	0.43462	.	0.167836	0.25948	U	0.027280	T	0.38295	0.1035	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.76494	0.999;0.958	P;B	0.58970	0.849;0.13	T	0.39375	-0.9617	10	0.87932	D	0	.	15.8127	0.78576	0.0:0.0:1.0:0.0	.	987;1144	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	1144;987;86	ENSP00000422185:V1144M;ENSP00000329124:V987M	ENSP00000329124:V987M	V	+	1	0	SORCS2	7792841	1.000000	0.71417	0.893000	0.35052	0.845000	0.48019	7.974000	0.88039	1.935000	0.56089	0.561000	0.74099	GTG	G|0.999;A|0.001	0.001	strong		0.617	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7741941	G	A	7741941	3	1	22	1	0	0	0	0	1	0	0	0	14931	1145	40	1	3536	1	SORCS2	4	7741941	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1120264	7741941	183412335	2520	7628										
AFAP1	60312	hgsc.bcm.edu	37	chr4	7765495	7765495	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggtgctgctgtcccctaGgtcccgttcttcaattccca	9	14	2	0	rs2240053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:7765495G>T	ENST00000360265.4	-	16	2424	c.2190C>A	c.(2188-2190)acC>acA	p.T730T	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.T730T|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000382543.3_Silent_p.T814T|AFAP1_ENST00000420658.1_Silent_p.T814T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	730						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTGTCCCCTAGGTCCCGTTCT	0.572													T|||	1209	0.241414	0.2685	0.1628	5008	,	,		17435	0.3899		0.0924	False		,,,				2504	0.2607				p.T814T		Atlas-SNP	.											.	AFAP1	93	.	0			c.C2442A						PASS	.	T	,	879,3319		83,713,1303	156	120	132		2442,2190	-8.6	0	4	dbSNP_98	132	609,7517		19,571,3473	no	coding-synonymous,coding-synonymous	AFAP1	NM_001134647.1,NM_198595.2	,	102,1284,4776	TT,TG,GG		7.4945,20.9385,12.074	,	814/815,730/731	7765495	1488,10836	2099	4063	6162	SO:0001819	synonymous_variant	60312	exon18			CCCCTAGGTCCCG	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.2190C>A	4.37:g.7765495G>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	137	63	0.459854	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																			G|0.803;T|0.197	0.197	strong		0.572	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		T	7765495	G	T	7765495	2	4	22	1	0	0	0	0	0	0	0	1	353	987	35	4		4	AFAP1	4	7765495	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23554	7765495	183388781	2521	7629										
AFAP1	60312	hgsc.bcm.edu	37	chr4	7783172	7783172	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagactgagcggaggcaggGtatttgtaatggttagagga	16	4	0	3	rs77207711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:7783172G>A	ENST00000360265.4	-	12	1765				AFAP1_ENST00000382543.3_Silent_p.Y571Y|AFAP1_ENST00000420658.1_Silent_p.Y571Y|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CGGAGGCAGGGTATTTGTAAT	0.527													G|||	762	0.152157	0.2307	0.1499	5008	,	,		18893	0.0853		0.1133	False		,,,				2504	0.1564				p.Y571Y		Atlas-SNP	.											.	AFAP1	93	.	0			c.C1713T						PASS	.	G	,	290,1094		26,238,428	117	113	114		1713,	2.4	0.2	4	dbSNP_132	114	384,2798		21,342,1228	no	coding-synonymous,intron	AFAP1	NM_001134647.1,NM_198595.2	,	47,580,1656	AA,AG,GG		12.0679,20.9538,14.7613	,	571/815,	7783172	674,3892	692	1591	2283	SO:0001627	intron_variant	60312	exon13			GGCAGGGTATTTG	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-2569C>T	4.37:g.7783172G>A		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	217	96	0.442396	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																			G|0.870;A|0.130	0.130	strong		0.527	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		A	7783172	G	A	7783172	1	1	22	0	1	0	0	0	0	0	0	0	353	1256	44	2		2	AFAP1	4	7783172	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17677	7783172	183371104	2522	7630										
SH3TC1	54436	hgsc.bcm.edu	37	chr4	8228948	8228948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgttcctgaacgccccTgggtacaaggccagcttccg	11	15	0	1	rs55642964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8228948T>C	ENST00000245105.3	+	12	1594	c.1527T>C	c.(1525-1527)ccT>ccC	p.P509P	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.P433P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	509										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGAACGCCCCTGGGTACAAGG	0.657													C|||	1150	0.229633	0.0749	0.2723	5008	,	,		16902	0.3274		0.3211	False		,,,				2504	0.2137				p.P509P	NSCLC(145;2298 2623 35616 37297)	Atlas-SNP	.											.	SH3TC1	105	.	0			c.T1527C						PASS	.	C		506,3880		26,454,1713	17	14	15		1527	-9.3	0	4	dbSNP_129	15	2668,5920		452,1764,2078	no	coding-synonymous	SH3TC1	NM_018986.3		478,2218,3791	CC,CT,TT		31.0666,11.5367,24.4643		509/1337	8228948	3174,9800	2193	4294	6487	SO:0001819	synonymous_variant	54436	exon12			CGCCCCTGGGTAC	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1527T>C	4.37:g.8228948T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	150	78	0.52	NM_018986	Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																			T|0.759;C|0.241	0.241	strong		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		C	8228948	T	C	8228948	2	2	22	1	0	0	0	0	0	0	0	1	14261	1567	55	3		3	SH3TC1	4	8228948	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	445776	8228948	182925328	2523	7631										
SH3TC1	54436	hgsc.bcm.edu	37	chr4	8238151	8238151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctagcactcagcatcacCctgggtaagccccctgagcc	9	18	2	1	rs11603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8238151C>T	ENST00000245105.3	+	16	3619	c.3552C>T	c.(3550-3552)acC>acT	p.T1184T	SH3TC1_ENST00000539824.1_Silent_p.T1108T	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1184										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCAGCATCACCCTGGGTAAGC	0.647													C|||	1407	0.28095	0.2073	0.3026	5008	,	,		17382	0.2431		0.4095	False		,,,				2504	0.272				p.T1184T	NSCLC(145;2298 2623 35616 37297)	Atlas-SNP	.											.	SH3TC1	105	.	0			c.C3552T						PASS	.	C		843,3261		90,663,1299	30	26	28		3552	2.9	1	4	dbSNP_52	28	2674,5232		458,1758,1737	no	coding-synonymous	SH3TC1	NM_018986.3		548,2421,3036	TT,TC,CC		33.8224,20.5409,29.2839		1184/1337	8238151	3517,8493	2052	3953	6005	SO:0001819	synonymous_variant	54436	exon16			CATCACCCTGGGT	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3552C>T	4.37:g.8238151C>T		Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	258	130	0.503876	NM_018986	Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																			C|0.684;T|0.316	0.316	strong		0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8238151	C	T	8238151	2	4	22	1	0	0	0	0	0	0	0	1	14261	610	22	2		2	SH3TC1	4	8238151	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9203	8238151	182916125	2524	7632										
ACOX3	8310	hgsc.bcm.edu	37	chr4	8390948	8390948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagacctcaaacttctggtCaaggatgccgggataggcgt	14	9	3	1	rs13434465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8390948C>T	ENST00000356406.5	-	13	1566	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	ACOX3_ENST00000503233.1_Missense_Mutation_p.D497N|ACOX3_ENST00000413009.2_Missense_Mutation_p.D497N	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	497			D -> N (in dbSNP:rs13434465).		cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACTTCTGGTCAAGGATGCCG	0.552													C|||	197	0.0393371	0.0749	0.0259	5008	,	,		19260	0.0		0.0388	False		,,,				2504	0.0419				p.D497N		Atlas-SNP	.											.	ACOX3	70	.	0			c.G1489A						PASS	.	C	ASN/ASP,ASN/ASP	254,4152	146.9+/-181.5	7,240,1956	82	77	79		1489,1489	0.8	0	4	dbSNP_121	79	327,8273	113.9+/-173.9	9,309,3982	yes	missense,missense	ACOX3	NM_001101667.1,NM_003501.2	23,23	16,549,5938	TT,TC,CC		3.8023,5.7649,4.4672	benign,benign	497/625,497/701	8390948	581,12425	2203	4300	6503	SO:0001583	missense	8310	exon13			TCTGGTCAAGGAT	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1489G>A	4.37:g.8390948C>T	ENSP00000348775:p.Asp497Asn	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	92	47	0.51087	NM_001101667	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	86	0.039377289377289376	46	0.09349593495934959	11	0.03038674033149171	0	0.0	29	0.03825857519788918	C	0.658	-0.806939	0.02819	0.057649	0.038023	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.92249	-2.98;-3.0;-3.0	3.49	0.77	0.18497	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	1.100970	0.06825	N	0.792987	T	0.15132	0.0365	N	0.08118	0	0.19775	N	0.99996	B;B;B	0.14438	0.003;0.01;0.003	B;B;B	0.16289	0.007;0.015;0.007	T	0.49688	-0.8913	10	0.14252	T	0.57	-9.2626	3.9431	0.09336	0.1667:0.5265:0.0:0.3068	rs13434465;rs13434465	497;497;497	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	N	497	ENSP00000413994:D497N;ENSP00000348775:D497N;ENSP00000421625:D497N	ENSP00000348775:D497N	D	-	1	0	ACOX3	8441848	0.005000	0.15991	0.001000	0.08648	0.035000	0.12851	0.020000	0.13466	-0.069000	0.12931	-0.140000	0.14226	GAC	C|0.954;T|0.046	0.046	strong		0.552	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			T	8390948	C	T	8390948	3	4	22	1	0	0	0	0	1	0	0	0	160	826	29	2	637	2	ACOX3	4	8390948	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152797	8390948	182763328	2525	7633										
ACOX3	8310	hgsc.bcm.edu	37	chr4	8394094	8394094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcctccacacgcctcccgGcattcctgaattccttgctg	7	17	0	1	rs28627156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8394094G>A	ENST00000356406.5	-	11	1343	c.1266C>T	c.(1264-1266)tgC>tgT	p.C422C	ACOX3_ENST00000503233.1_Silent_p.C422C|ACOX3_ENST00000413009.2_Silent_p.C422C|RNA5SP152_ENST00000365184.1_RNA	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	422					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ACGCCTCCCGGCATTCCTGAA	0.602													G|||	614	0.122604	0.326	0.0533	5008	,	,		18339	0.003		0.0805	False		,,,				2504	0.0634				p.C422C		Atlas-SNP	.											.	ACOX3	70	.	0			c.C1266T						PASS	.	G	,	1237,3169	427.2+/-341.4	173,891,1139	154	158	157		1266,1266	3.2	1	4	dbSNP_125	157	615,7985	161.1+/-214.1	28,559,3713	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	201,1450,4852	AA,AG,GG		7.1512,28.0754,14.2396	,	422/625,422/701	8394094	1852,11154	2203	4300	6503	SO:0001819	synonymous_variant	8310	exon11			CTCCCGGCATTCC	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1266C>T	4.37:g.8394094G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_001101667	Q96AJ8	Silent	SNP	ENST00000356406.5	37	CCDS3401.1																																																																																			G|0.872;A|0.128	0.128	strong		0.602	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			A	8394094	G	A	8394094	2	1	22	1	0	0	0	0	0	0	0	1	160	1195	42	2		2	ACOX3	4	8394094	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3146	8394094	182760182	2526	7634										
C4orf23	152992	hgsc.bcm.edu	37	chr4	8472839	8472839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctggcagaagtagccaaCgagctggacacggagaccct	12	12	1	2	rs17202499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8472839C>T	ENST00000389737.4	+	10	1956	c.1956C>T	c.(1954-1956)aaC>aaT	p.N652N		NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	652					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AAGTAGCCAACGAGCTGGACA	0.547													T|||	97	0.019369	0.003	0.0202	5008	,	,		16156	0.0		0.0398	False		,,,				2504	0.0399				p.N652N		Atlas-SNP	.											.	TRMT44	7	.	0			c.C1956T						PASS	.	T		34,4372	822.9+/-416.5	0,34,2169	106	122	116		1956	-9	0	4	dbSNP_123	116	323,8277	804.9+/-407.3	9,305,3986	no	coding-synonymous	METTL19	NM_152544.2		9,339,6155	TT,TC,CC		3.7558,0.7717,2.7449		652/758	8472839	357,12649	2203	4300	6503	SO:0001819	synonymous_variant	152992	exon10			AGCCAACGAGCTG	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1956C>T	4.37:g.8472839C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	89	54	0.606742	NM_152544	Q8NA95	Silent	SNP	ENST00000389737.4	37	CCDS3402.2																																																																																			C|0.977;T|0.023	0.023	strong		0.547	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		T	8472839	C	T	8472839	2	4	22	1	0	0	0	0	0	0	0	1	2256	535	19	1		1	C4orf23	4	8472839	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78745	8472839	182681437	2527	7635										
GPR78	27201	hgsc.bcm.edu	37	chr4	8589023	8589023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgaagagaaccccgcGcccagcgtccacccacaacg	10	18	0	2	rs9685931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:8589023G>A	ENST00000382487.4	+	3	1442	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	342			R -> H (in dbSNP:rs9685931).		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGAACCCCGCGCCCAGCGTCC	0.637													G|||	585	0.116813	0.2035	0.0548	5008	,	,		16899	0.0427		0.1143	False		,,,				2504	0.1227				p.R342H		Atlas-SNP	.											GPR78,NS,carcinoma,0,3	GPR78	58	3	0			c.G1025A						PASS	.	G	HIS/ARG	863,3539		83,697,1421	42	47	45		1025	-4	0	4	dbSNP_119	45	941,7645		51,839,3403	yes	missense	GPR78	NM_080819.2	29	134,1536,4824	AA,AG,GG		10.9597,19.6047,13.8897	benign	342/364	8589023	1804,11184	2201	4293	6494	SO:0001583	missense	27201	exon3			CCCCGCGCCCAGC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.1025G>A	4.37:g.8589023G>A	ENSP00000371927:p.Arg342His	Somatic	215	1	0.00465116		WXS	Illumina HiSeq	Phase_I	235	125	0.531915	NM_080819	Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	249	0.11401098901098901	112	0.22764227642276422	24	0.06629834254143646	25	0.043706293706293704	88	0.11609498680738786	G	0.040	-1.286694	0.01387	0.196047	0.109597	ENSG00000155269	ENST00000382487	T	0.61742	0.08	2.02	-4.03	0.04021	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06734	-1.0810	8	0.25106	T	0.35	.	3.3539	0.07162	0.1861:0.1529:0.509:0.152	rs9685931;rs17857471;rs52825020;rs9685931	342	Q96P69	GPR78_HUMAN	H	342	ENSP00000371927:R342H	ENSP00000371927:R342H	R	+	2	0	GPR78	8639923	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.614000	0.00443	-2.912000	0.00091	CGC	G|0.871;A|0.129	0.129	strong		0.637	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8589023	G	A	8589023	3	1	22	1	0	0	0	0	1	0	0	0	6710	1087	38	1	1035	1	GPR78	4	8589023	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	116184	8589023	182565253	2528	7636										
DRD5	1816	hgsc.bcm.edu	37	chr4	9784642	9784642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacaccccgaaggccctcCggccggcttcccctgcgtca	11	19	1	0	rs1800762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:9784642C>A	ENST00000304374.2	+	1	1385	c.989C>A	c.(988-990)cCg>cAg	p.P330Q		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	330			P -> Q (in dbSNP:rs1800762). {ECO:0000269|PubMed:7633397}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.P330Q(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGGCCCTCCGGCCGGCTTC	0.597													C|||	162	0.0323482	0.0234	0.0072	5008	,	,		19310	0.0863		0.0	False		,,,				2504	0.0399				p.P330Q		Atlas-SNP	.											DRD5,NS,carcinoma,0,1	DRD5	119	1	1	Substitution - Missense(1)	stomach(1)	c.C989A						PASS	.	C	GLN/PRO	114,4292	86.3+/-125.0	3,108,2092	89	90	90		989	-2.2	0	4	dbSNP_89	90	4,8596	3.7+/-12.6	0,4,4296	no	missense	DRD5	NM_000798.4	76	3,112,6388	AA,AC,CC		0.0465,2.5874,0.9073	benign	330/478	9784642	118,12888	2203	4300	6503	SO:0001583	missense	1816	exon1			GCCCTCCGGCCGG	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.989C>A	4.37:g.9784642C>A	ENSP00000306129:p.Pro330Gln	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	104	61	0.586538	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	56	0.02564102564102564	8	0.016260162601626018	3	0.008287292817679558	45	0.07867132867132867	0	0.0	c	0.290	-0.980733	0.02197	0.025874	4.65E-4	ENSG00000169676	ENST00000304374	T	0.68331	-0.32	4.48	-2.16	0.07080	GPCR, rhodopsin-like superfamily (1);	2.094460	0.02189	N	0.061125	T	0.03520	0.0101	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.05146	-1.0903	10	0.27082	T	0.32	.	6.2235	0.20695	0.435:0.2531:0.3119:0.0	rs1800762;rs61023474	330	P21918	DRD5_HUMAN	Q	330	ENSP00000306129:P330Q	ENSP00000306129:P330Q	P	+	2	0	DRD5	9393740	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.462000	0.06704	-0.357000	0.08175	-0.515000	0.04445	CCG	C|0.986;A|0.014	0.014	strong		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9784642	C	A	9784642	3	1	22	1	0	0	0	0	1	0	0	0	4760	652	23	4	991	4	DRD5	4	9784642	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1195619	9784642	181369634	2529	7637										
SLC2A9	56606	hgsc.bcm.edu	37	chr4	9987324	9987324	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgatgaagcgtcccacGatgagcatttcaaaggctcc	9	13	1	3	rs3733589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:9987324G>A	ENST00000264784.3	-	4	557	c.504C>T	c.(502-504)atC>atT	p.I168I	SLC2A9_ENST00000309065.3_Silent_p.I139I|SLC2A9_ENST00000506583.1_Silent_p.I139I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	168					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGCGTCCCACGATGAGCATTT	0.512													G|||	782	0.15615	0.09	0.1455	5008	,	,		23244	0.3919		0.0447	False		,,,				2504	0.1247				p.I168I		Atlas-SNP	.											.	SLC2A9	158	.	0			c.C504T						PASS	.	G	,	476,3930	225.2+/-241.2	28,420,1755	85	81	82		417,504	0.4	0.3	4	dbSNP_107	82	293,8307	108.2+/-168.9	4,285,4011	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	32,705,5766	AA,AG,GG		3.407,10.8034,5.9127	,	139/512,168/541	9987324	769,12237	2203	4300	6503	SO:0001819	synonymous_variant	56606	exon4			TCCCACGATGAGC	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.504C>T	4.37:g.9987324G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	210	103	0.490476	NM_020041	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																			G|0.895;A|0.105	0.105	strong		0.512	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			A	9987324	G	A	9987324	2	1	22	1	0	0	0	0	0	0	0	1	14552	1048	37	1		1	SLC2A9	4	9987324	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	202682	9987324	181166952	2530	7638										
SLC2A9	56606	hgsc.bcm.edu	37	chr4	10027542	10027542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaccaatttctttttcgCtgaatcactttcttcatctt	3	11	5	2	rs6820230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:10027542C>T	ENST00000506583.1	-	3	266	c.49G>A	c.(49-51)Gcg>Acg	p.A17T	SLC2A9_ENST00000309065.3_Missense_Mutation_p.A17T			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	46					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TTCTTTTTCGCTGAATCACTT	0.423													C|||	1345	0.26857	0.5507	0.2205	5008	,	,		20219	0.0972		0.2972	False		,,,				2504	0.0685				p.A17T		Atlas-SNP	.											SLC2A9,NS,carcinoma,+2,1	SLC2A9	158	1	0			c.G49A						PASS	.	C	THR/ALA	2173,2233	585.0+/-386.2	526,1121,556	130	131	131		49	0.9	0	4	dbSNP_116	131	2340,6260	390.9+/-343.5	333,1674,2293	yes	missense	SLC2A9	NM_001001290.1	58	859,2795,2849	TT,TC,CC		27.2093,49.3191,34.6994		17/512	10027542	4513,8493	2203	4300	6503	SO:0001583	missense	56606	exon2			TTTTCGCTGAATC	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.49G>A	4.37:g.10027542C>T	ENSP00000422209:p.Ala17Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_001001290	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000506583.1	37	CCDS3406.1	617	0.2825091575091575	269	0.5467479674796748	85	0.23480662983425415	50	0.08741258741258741	213	0.28100263852242746	C	3.384	-0.125708	0.06795	0.493191	0.272093	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	D;D;D	0.87334	-1.62;-1.62;-2.24	3.59	0.892	0.19230	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.40098	-0.9581	7	.	.	.	.	3.6186	0.08086	0.0:0.5531:0.2107:0.2362	rs6820230;rs52816748;rs56455102;rs56938107;rs6820230	17	Q9NRM0-2	.	T	17	ENSP00000422209:A17T;ENSP00000311383:A17T;ENSP00000426800:A17T	.	A	-	1	0	SLC2A9	9636640	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.100000	0.10990	0.155000	0.19261	0.561000	0.74099	GCG	C|0.682;T|0.318	0.318	strong		0.423	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			T	10027542	C	T	10027542	3	4	22	1	0	0	0	0	1	0	0	0	14552	797	28	2	1688	2	SLC2A9	4	10027542	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40218	10027542	181126734	2531	7639										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10445427	10445427	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcagtttaggccgcagAggtgtctcgatatttgggga	13	7	2	1	rs7694496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:10445427A>T	ENST00000326756.3	-	3	2964	c.2526T>A	c.(2524-2526)ccT>ccA	p.P842P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	842					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P842P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGCCGCAGAGGTGTCTCGA	0.463													A|||	720	0.14377	0.3154	0.036	5008	,	,		18870	0.1597		0.003	False		,,,				2504	0.1166				p.P842P		Atlas-SNP	.											ZNF518B,NS,carcinoma,0,1	ZNF518B	116	1	1	Substitution - coding silent(1)	stomach(1)	c.T2526A						PASS	.	A		1122,3284	402.6+/-332.4	155,812,1236	90	86	88		2526	3.3	0	4	dbSNP_116	88	34,8566	24.0+/-70.4	1,32,4267	no	coding-synonymous	ZNF518B	NM_053042.2		156,844,5503	TT,TA,AA		0.3953,25.4653,8.8882		842/1075	10445427	1156,11850	2203	4300	6503	SO:0001819	synonymous_variant	85460	exon3			CCGCAGAGGTGTC	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2526T>A	4.37:g.10445427A>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	102	56	0.54902	NM_053042	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																			A|0.901;T|0.099	0.099	strong		0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		T	10445427	A	T	10445427	2	4	22	1	0	0	0	0	0	0	0	1	17960	291	11	5		5	ZNF518B	4	10445427	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	417885	10445427	180708849	2532	7640										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10447640	10447640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaacatgagtcgcactggAattattgctcacaaaatgaa	7	9	1	2	rs10016702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:10447640A>G	ENST00000326756.3	-	3	751	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	105			S -> P (in dbSNP:rs10016702). {ECO:0000269|PubMed:11214970}.		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S105P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTCGCACTGGAATTATTGCTC	0.413													G|||	1054	0.210463	0.4274	0.1196	5008	,	,		20274	0.1696		0.0924	False		,,,				2504	0.1452				p.S105P		Atlas-SNP	.											ZNF518B,NS,carcinoma,0,1	ZNF518B	116	1	1	Substitution - Missense(1)	stomach(1)	c.T313C						PASS	.	G	PRO/SER	1689,2717	652.6+/-399.4	333,1023,847	101	106	104		313	0.5	0	4	dbSNP_119	104	867,7733	779.6+/-407.7	46,775,3479	yes	missense	ZNF518B	NM_053042.2	74	379,1798,4326	GG,GA,AA		10.0814,38.3341,19.6525	benign	105/1075	10447640	2556,10450	2203	4300	6503	SO:0001583	missense	85460	exon3			CACTGGAATTATT	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.313T>C	4.37:g.10447640A>G	ENSP00000317614:p.Ser105Pro	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	433	0.19826007326007325	217	0.4410569105691057	49	0.13535911602209943	94	0.16433566433566432	73	0.09630606860158311	G	3.972	-0.008261	0.07727	0.383341	0.100814	ENSG00000178163	ENST00000326756	T	0.01560	4.77	5.76	0.517	0.17025	.	0.862050	0.09828	N	0.750635	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21042	-1.0257	9	0.23891	T	0.37	-0.0895	3.5717	0.07920	0.2131:0.4421:0.2393:0.1056	rs10016702;rs52819764;rs59445573;rs10016702	105	Q9C0D4	Z518B_HUMAN	P	105	ENSP00000317614:S105P	ENSP00000317614:S105P	S	-	1	0	ZNF518B	10056738	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	0.016000	0.13377	-0.161000	0.10983	-0.128000	0.14901	TCC	A|0.793;G|0.207	0.207	strong		0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		G	10447640	A	G	10447640	3	3	22	1	0	0	0	0	1	0	0	0	17960	246	9	2	2915	2	ZNF518B	4	10447640	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2213	10447640	180706636	2533	7641										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10447679	10447679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaattgggaggagctgcacCgaggctgcactggaagcaga	15	8	0	1	rs10007352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:10447679C>T	ENST00000326756.3	-	3	712	c.274G>A	c.(274-276)Ggt>Agt	p.G92S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	92			G -> S (in dbSNP:rs10007352).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G92S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGAGCTGCACCGAGGCTGCAC	0.418													C|||	721	0.14397	0.3177	0.0346	5008	,	,		20671	0.1597		0.003	False		,,,				2504	0.1155				p.G92S		Atlas-SNP	.											ZNF518B,NS,carcinoma,0,1	ZNF518B	116	1	1	Substitution - Missense(1)	stomach(1)	c.G274A						PASS	.	C	SER/GLY	1121,3285	402.4+/-332.3	154,813,1236	120	119	120		274	3	0	4	dbSNP_119	120	28,8572	20.4+/-63.3	0,28,4272	yes	missense	ZNF518B	NM_053042.2	56	154,841,5508	TT,TC,CC		0.3256,25.4426,8.8344	possibly-damaging	92/1075	10447679	1149,11857	2203	4300	6503	SO:0001583	missense	85460	exon3			CTGCACCGAGGCT	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.274G>A	4.37:g.10447679C>T	ENSP00000317614:p.Gly92Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	260	0.11904761904761904	157	0.31910569105691056	14	0.03867403314917127	86	0.15034965034965034	3	0.00395778364116095	C	7.662	0.685199	0.14973	0.254426	0.003256	ENSG00000178163	ENST00000326756	T	0.01430	4.9	5.76	2.97	0.34412	.	0.764126	0.11463	N	0.561517	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.28801	0.223	B	0.16289	0.015	T	0.28554	-1.0040	9	0.02654	T	1	-3.7661	5.6028	0.17363	0.0:0.3823:0.4186:0.1991	rs10007352	92	Q9C0D4	Z518B_HUMAN	S	92	ENSP00000317614:G92S	ENSP00000317614:G92S	G	-	1	0	ZNF518B	10056777	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.775000	0.26689	0.787000	0.33731	0.650000	0.86243	GGT	C|0.906;T|0.094	0.094	strong		0.418	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		T	10447679	C	T	10447679	3	4	22	1	0	0	0	0	1	0	0	0	17960	652	23	1	2954	1	ZNF518B	4	10447679	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39	10447679	180706597	2534	7642										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10447848	10447848	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttgtgcttcttgtctattTggccgaggtgctccattagc	11	9	2	0	rs10021506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:10447848T>G	ENST00000326756.3	-	3	543	c.105A>C	c.(103-105)ccA>ccC	p.P35P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGTCTATTTGGCCGAGGTG	0.468													T|||	739	0.147564	0.3245	0.0403	5008	,	,		20378	0.1627		0.003	False		,,,				2504	0.1176				p.P35P		Atlas-SNP	.											.	ZNF518B	116	.	0			c.A105C						PASS	.	T		1149,3257	407.5+/-334.3	160,829,1214	230	194	207		105	-4.1	0	4	dbSNP_119	207	34,8566	24.0+/-70.4	1,32,4267	no	coding-synonymous	ZNF518B	NM_053042.2		161,861,5481	GG,GT,TT		0.3953,26.0781,9.0958		35/1075	10447848	1183,11823	2203	4300	6503	SO:0001819	synonymous_variant	85460	exon3			TCTATTTGGCCGA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.105A>C	4.37:g.10447848T>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_053042	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																			T|0.883;G|0.117	0.117	strong		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		G	10447848	T	G	10447848	2	3	22	1	0	0	0	0	0	0	0	1	17960	1799	63	5		5	ZNF518B	4	10447848	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	169	10447848	180706428	2535	7643										
NKX3-2	579	hgsc.bcm.edu	37	chr4	13545610	13545610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcgctgtcgctccggccCgcggcttcctcctctaggtc	10	18	2	0	rs10032202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:13545610C>T	ENST00000382438.5	-	1	1064	c.429G>A	c.(427-429)gcG>gcA	p.A143A	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	143					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGCTCCGGCCCGCGGCTTCCT	0.731													C|||	196	0.0391374	0.1437	0.0058	5008	,	,		11648	0.0		0.002	False		,,,				2504	0.0				p.A143A		Atlas-SNP	.											.	NKX3-2	15	.	0			c.G429A						PASS	.	C		260,3434		1,258,1588	3	4	4		429	3.1	1	4	dbSNP_119	4	10,7596		0,10,3793	no	coding-synonymous	NKX3-2	NM_001189.3		1,268,5381	TT,TC,CC		0.1315,7.0384,2.3894		143/334	13545610	270,11030	1847	3803	5650	SO:0001819	synonymous_variant	579	exon1			CCGGCCCGCGGCT	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.429G>A	4.37:g.13545610C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	26	13	0.5	NM_001189	Q2M2I7	Silent	SNP	ENST00000382438.5	37	CCDS3410.1																																																																																			C|0.964;T|0.036	0.036	strong		0.731	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			T	13545610	C	T	13545610	2	4	22	1	0	0	0	0	0	0	0	1	10456	639	23	1		1	NKX3-2	4	13545610	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3097762	13545610	177608666	2536	7644										
CPEB2	132864	hgsc.bcm.edu	37	chr4	15005604	15005604	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagcggcggctcgctcaGcgccatgccgccgcccagcc	14	20	1	0	rs112476821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15005604G>A	ENST00000507071.1	+	0	83				CPEB2_ENST00000541112.1_Missense_Mutation_p.S436N|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.S436N|CPEB2_ENST00000259997.5_5'UTR|CPEB2_ENST00000382401.3_5'UTR|CPEB2_ENST00000442003.2_Missense_Mutation_p.S436N|CPEB2_ENST00000345451.3_5'UTR|CPEB2_ENST00000382395.3_5'UTR			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GGCTCGCTCAGCGCCATGCCG	0.756													g|||	2367	0.472644	0.3253	0.5922	5008	,	,		2747	0.7292		0.5258	False		,,,				2504	0.2679				p.S436N		Atlas-SNP	.											.	CPEB2	77	.	0			c.G1307A						PASS	.		ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	1000,2112		207,586,763	3	4	4		1307,1307,1307,1307,1307,1307	0.3	0.9	4	dbSNP_132	4	2948,3446		796,1356,1045	no	missense,missense,missense,missense,missense,missense	CPEB2	NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2	46,46,46,46,46,46	1003,1942,1808	AA,AG,GG		46.1057,32.1337,41.5317	,,,,,	436/1008,436/1035,436/1005,436/1000,436/1027,436/997	15005604	3948,5558	1556	3197	4753	SO:0001623	5_prime_UTR_variant	132864	exon1			CGCTCAGCGCCAT	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.-5G>A	4.37:g.15005604G>A		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	16	16	1	NM_001177381	E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37		1222	0.5595238095238095	170	0.34552845528455284	202	0.5580110497237569	441	0.7709790209790209	409	0.5395778364116095	g	0.683	-0.797424	0.02862	0.321337	0.461057	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003	D;T;T	0.82433	-1.61;0.79;0.8	1.29	0.336	0.15958	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.52501	P	4.499999999996174E-5	.	.	.	.	.	.	T	0.38351	-0.9665	6	0.27082	T	0.32	.	2.7676	0.05324	0.2146:0.3084:0.477:0.0	.	.	.	.	N	436	ENSP00000443985:S436N;ENSP00000437884:S436N;ENSP00000414270:S436N	ENSP00000414270:S436N	S	+	2	0	CPEB2	14614702	.	.	0.933000	0.37362	0.034000	0.12701	.	.	-0.171000	0.10797	-1.037000	0.02385	AGC	G|0.440;A|0.560	0.560	strong		0.756	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		A	15005604	G	A	15005604	1	1	22	0	1	0	0	0	0	0	0	0	3801	971	34	2		2	CPEB2	4	15005604	5'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1459994	15005604	176148672	2537	7645										
CC2D2A	57545	hgsc.bcm.edu	37	chr4	15516389	15516389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctattgggcttagatcaCgtggctgacgattttgtagc	11	8	1	2	rs2286976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15516389C>T	ENST00000503292.1	+	10	957	c.777C>T	c.(775-777)caC>caT	p.H259H	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Silent_p.H259H|CC2D2A_ENST00000389652.5_Silent_p.H210H|CC2D2A_ENST00000413206.1_Silent_p.H259H	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	259					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTTAGATCACGTGGCTGACG	0.428													C|||	481	0.0960463	0.0431	0.0303	5008	,	,		18626	0.3492		0.0268	False		,,,				2504	0.0245				p.H259H		Atlas-SNP	.											.	CC2D2A	158	.	0			c.C777T						PASS	.	C		200,3754		3,194,1780	142	142	142		777	-8.1	0	4	dbSNP_100	142	228,8098		1,226,3936	no	coding-synonymous	CC2D2A	NM_001080522.2		4,420,5716	TT,TC,CC		2.7384,5.0582,3.4853		259/1621	15516389	428,11852	1977	4163	6140	SO:0001819	synonymous_variant	57545	exon10			AGATCACGTGGCT	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.777C>T	4.37:g.15516389C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	125	57	0.456	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																			C|0.900;T|0.100	0.100	strong		0.428	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15516389	C	T	15516389	2	4	22	1	0	0	0	0	0	0	0	1	2728	535	19	1		1	CC2D2A	4	15516389	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	510785	15516389	175637887	2538	7646										
FBXL5	26234	hgsc.bcm.edu	37	chr4	15627092	15627092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaatgagtgaccacaatAcgcaaaggctggagaagcac	10	9	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15627092A>G	ENST00000341285.3	-	9	1757	c.1633T>C	c.(1633-1635)Tat>Cat	p.Y545H	FBXL5_ENST00000412094.2_Missense_Mutation_p.Y528H|FBXL5_ENST00000382358.4_Missense_Mutation_p.Y419H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	545					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGACCACAATACGCAAAGGCT	0.423																																					p.Y545H		Atlas-SNP	.											.	FBXL5	52	.	0			c.T1633C						PASS	.						71	58	62					4																	15627092		2203	4300	6503	SO:0001583	missense	26234	exon9			CACAATACGCAAA	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1633T>C	4.37:g.15627092A>G	ENSP00000344866:p.Tyr545His	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	134	6	0.0447761	NM_012161	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.187808|4.187808	0.78789|0.78789	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|T;T;T	.|0.38401	.|1.17;1.19;1.14	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.108992	.|0.64402	.|D	.|0.000005	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.29908|0.29908	0.895|0.895	0.50467|0.50467	D|D	0.999876|0.999876	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.994	T|T	0.36601|0.36601	-0.9741|-0.9741	5|10	.|0.30078	.|T	.|0.28	-20.3568|-20.3568	16.0006|16.0006	0.80290|0.80290	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|528;545	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	A|H	465|545;528;419	.|ENSP00000344866:Y545H;ENSP00000408679:Y528H;ENSP00000371795:Y419H	.|ENSP00000344866:Y545H	V|Y	-|-	2|1	0|0	FBXL5|FBXL5	15236190|15236190	0.997000|0.997000	0.39634|0.39634	0.864000|0.864000	0.33941|0.33941	0.943000|0.943000	0.58893|0.58893	3.468000|3.468000	0.53086|0.53086	2.180000|2.180000	0.69256|0.69256	0.460000|0.460000	0.39030|0.39030	GTA|TAT	.	.	none		0.423	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			G	15627092	A	G	15627092	3	3	22	1	0	0	0	0	1	0	0	0	5722	391	14	2	454	2	FBXL5	4	15627092	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	110703	15627092	175527184	2539	7647										
BST1	683	hgsc.bcm.edu	37	chr4	15709252	15709252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatttcttgagctggtgtcGacagaaaaatgactctggta	11	6	2	4	rs2302464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15709252G>A	ENST00000265016.4	+	3	629	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	BST1_ENST00000382346.3_Missense_Mutation_p.R160Q	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	145			R -> Q (in dbSNP:rs2302464).		humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.R145Q(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AGCTGGTGTCGACAGAAAAAT	0.443													G|||	396	0.0790735	0.0287	0.0259	5008	,	,		14972	0.2232		0.0199	False		,,,				2504	0.0971				p.R145Q		Atlas-SNP	.											BST1,NS,carcinoma,0,1	BST1	30	1	1	Substitution - Missense(1)	stomach(1)	c.G434A						scavenged	.	G	GLN/ARG	201,4205	125.3+/-162.5	4,193,2006	114	109	110		434	3.8	1	4	dbSNP_100	110	228,8372	94.2+/-156.2	1,226,4073	yes	missense	BST1	NM_004334.2	43	5,419,6079	AA,AG,GG		2.6512,4.562,3.2985	probably-damaging	145/319	15709252	429,12577	2203	4300	6503	SO:0001583	missense	683	exon3			GGTGTCGACAGAA	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.434G>A	4.37:g.15709252G>A	ENSP00000265016:p.Arg145Gln	Somatic	191	2	0.0104712		WXS	Illumina HiSeq	Phase_I	165	72	0.436364	NM_004334	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	CCDS3416.1	172|172	0.07875457875457875|0.07875457875457875	10|10	0.02032520325203252|0.02032520325203252	11|11	0.03038674033149171|0.03038674033149171	136|136	0.23776223776223776|0.23776223776223776	15|15	0.01978891820580475|0.01978891820580475	G|G	17.72|17.72	3.459767|3.459767	0.63401|0.63401	0.04562|0.04562	0.026512|0.026512	ENSG00000109743|ENSG00000109743	ENST00000505785|ENST00000265016;ENST00000382346	.|T;T	.|0.17854	.|2.25;2.25	5.62|5.62	3.84|3.84	0.44239|0.44239	.|.	.|0.124747	.|0.53938	.|D	.|0.000054	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.68952|0.68952	2.095|2.095	0.28171|0.28171	P|P	0.9285529|0.9285529	.|D	.|0.89917	.|1.0	.|P	.|0.52909	.|0.713	T|T	0.21484|0.21484	-1.0244|-1.0244	4|9	.|0.45353	.|T	.|0.12	-4.1085|-4.1085	8.1902|8.1902	0.31363|0.31363	0.0858:0.1559:0.7582:0.0|0.0858:0.1559:0.7582:0.0	rs2302464;rs11548109;rs52836531;rs58881266;rs2302464|rs2302464;rs11548109;rs52836531;rs58881266;rs2302464	.|145	.|Q10588	.|BST1_HUMAN	N|Q	41|145;160	.|ENSP00000265016:R145Q;ENSP00000371783:R160Q	.|ENSP00000265016:R145Q	D|R	+|+	1|2	0|0	BST1|BST1	15318350|15318350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	3.645000|3.645000	0.54389|0.54389	1.373000|1.373000	0.46208|0.46208	0.591000|0.591000	0.81541|0.81541	GAC|CGA	G|0.944;A|0.056	0.056	strong		0.443	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		A	15709252	G	A	15709252	3	1	22	1	0	0	0	0	1	0	0	0	1533	1058	37	1	444	1	BST1	4	15709252	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82160	15709252	175445024	2540	7648										
BST1	683	hgsc.bcm.edu	37	chr4	15713446	15713446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggactcgattaccaatcCtgccctacatcagaagactg	7	12	1	2	rs2302463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15713446C>T	ENST00000265016.4	+	4	663	c.468C>T	c.(466-468)tcC>tcT	p.S156S	BST1_ENST00000382346.3_Silent_p.S171S	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	156					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.S156S(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTACCAATCCTGCCCTACAT	0.393													C|||	420	0.0838658	0.0703	0.0288	5008	,	,		21378	0.1895		0.0199	False		,,,				2504	0.0982				p.S156S		Atlas-SNP	.											BST1,NS,carcinoma,0,1	BST1	30	1	1	Substitution - coding silent(1)	stomach(1)	c.C468T						PASS	.	C		358,4048	183.3+/-210.9	12,334,1857	144	139	141		468	1.9	1	4	dbSNP_100	141	233,8367	95.4+/-157.2	1,231,4068	no	coding-synonymous	BST1	NM_004334.2		13,565,5925	TT,TC,CC		2.7093,8.1253,4.5441		156/319	15713446	591,12415	2203	4300	6503	SO:0001819	synonymous_variant	683	exon4			CCAATCCTGCCCT	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.468C>T	4.37:g.15713446C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	153	76	0.496732	NM_004334	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	ENST00000265016.4	37	CCDS3416.1	165	0.07554945054945054	27	0.054878048780487805	12	0.03314917127071823	111	0.19405594405594406	15	0.01978891820580475	C	5.214	0.224934	0.09916	0.081253	0.027093	ENSG00000109743	ENST00000505785	.	.	.	5.64	1.87	0.25490	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	0.9999999761068	.	.	.	.	.	.	T	0.17198	-1.0377	3	.	.	.	-19.4162	2.0425	0.03553	0.1628:0.5085:0.1575:0.1713	rs2302463;rs11548108;rs2302463	.	.	.	L	52	.	.	P	+	2	0	BST1	15322544	0.998000	0.40836	0.963000	0.40424	0.492000	0.33523	0.227000	0.17795	0.278000	0.22164	-0.126000	0.14955	CCT	C|0.946;T|0.054	0.054	strong		0.393	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		T	15713446	C	T	15713446	2	4	22	1	0	0	0	0	0	0	0	1	1533	668	24	2		2	BST1	4	15713446	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4194	15713446	175440830	2541	7649										
BST1	683	hgsc.bcm.edu	37	chr4	15733454	15733454	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttctggtgctggcttccAggactcaactgtaactggaa	10	10	3	0	rs1058212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:15733454A>C	ENST00000265016.4	+	9	1138	c.943A>C	c.(943-945)Agg>Cgg	p.R315R	BST1_ENST00000382346.3_Silent_p.R330R	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	315					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.R315R(2)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GCTGGCTTCCAGGACTCAACT	0.493													G|||	931	0.185903	0.115	0.0951	5008	,	,		16685	0.502		0.0308	False		,,,				2504	0.18				p.R315R		Atlas-SNP	.											BST1,colon,carcinoma,0,3	BST1	30	3	2	Substitution - coding silent(2)	stomach(1)|central_nervous_system(1)	c.A943C						PASS	.	G		506,3900		26,454,1723	55	52	53		943	4	0	4	dbSNP_86	53	260,8340		3,254,4043	no	coding-synonymous	BST1	NM_004334.2		29,708,5766	CC,CA,AA		3.0233,11.4843,5.8896		315/319	15733454	766,12240	2203	4300	6503	SO:0001819	synonymous_variant	683	exon9			GCTTCCAGGACTC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.943A>C	4.37:g.15733454A>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	173	73	0.421965	NM_004334	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	ENST00000265016.4	37	CCDS3416.1																																																																																			A|0.883;C|0.117	0.117	strong		0.493	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		C	15733454	A	C	15733454	2	2	22	1	0	0	0	0	0	0	0	1	1533	179	7	5		5	BST1	4	15733454	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20008	15733454	175420822	2542	7650										
PROM1	8842	hgsc.bcm.edu	37	chr4	16020162	16020162	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctctttggtctccttgatCgctatggaaacacagcccgc	9	14	2	1	rs2286455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:16020162C>T	ENST00000510224.1	-	9	1034	c.786G>A	c.(784-786)gcG>gcA	p.A262A	PROM1_ENST00000543373.1_Splice_Site_p.A253A|PROM1_ENST00000540805.1_Splice_Site_p.A262A|PROM1_ENST00000447510.2_Splice_Site_p.A262A|PROM1_ENST00000505450.1_Splice_Site_p.A253A|PROM1_ENST00000508167.1_Splice_Site_p.A253A|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Splice_Site_p.A262A			O43490	PROM1_HUMAN	prominin 1	262					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCTCCTTGATCGCTATGGAAA	0.478													C|||	692	0.138179	0.0265	0.1628	5008	,	,		23139	0.2371		0.0944	False		,,,				2504	0.2147				p.A262A		Atlas-SNP	.											.	PROM1	91	.	0			c.G786A						PASS	.	C	,,,,,,	171,3949		5,161,1894	89	83	85		759,759,786,786,759,759,786	-10.8	0	4	dbSNP_100	85	879,7529		39,801,3364	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	,,,,,,	44,962,5258	TT,TC,CC		10.4543,4.1505,8.3812	,,,,,,	253/857,253/857,262/843,262/835,253/834,253/826,262/866	16020162	1050,11478	2060	4204	6264	SO:0001630	splice_region_variant	8842	exon8			CTTGATCGCTATG	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.785-1G>A	4.37:g.16020162C>T		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	200	90	0.45	NM_006017	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																			C|0.873;T|0.127	0.127	strong		0.478	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	Silent	T	16020162	C	T	16020162	5	4	22	1	0	0	0	0	0	0	1	0	12555	898	31	1	1887	1	PROM1	4	16020162	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	286708	16020162	175134114	2543	7651										
TAPT1	202018	hgsc.bcm.edu	37	chr4	16215451	16215451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctcttctttctgtataCttggcctcattatgttcaag	5	10	5	0	rs6823623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:16215451C>T	ENST00000405303.2	-	2	353	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	90					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTTCTGTATACTTGGCCTCAT	0.348													C|||	729	0.145567	0.475	0.0418	5008	,	,		18664	0.0417		0.005	False		,,,				2504	0.0256				p.K90K		Atlas-SNP	.											TAPT1,colon,carcinoma,-1,1	TAPT1	31	1	0			c.G270A						PASS	.	C		1457,2221		292,873,674	157	155	155		270	3.4	1	4	dbSNP_116	155	23,8155		0,23,4066	no	coding-synonymous	TAPT1	NM_153365.2		292,896,4740	TT,TC,CC		0.2812,39.6139,12.4831		90/568	16215451	1480,10376	1839	4089	5928	SO:0001819	synonymous_variant	202018	exon2			TGTATACTTGGCC	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.270G>A	4.37:g.16215451C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_153365	Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																			C|0.863;T|0.137	0.137	strong		0.348	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		T	16215451	C	T	16215451	2	4	22	1	0	0	0	0	0	0	0	1	15551	564	20	2		2	TAPT1	4	16215451	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	195289	16215451	174938825	2544	7652										
CLRN2	645104	hgsc.bcm.edu	37	chr4	17517141	17517141	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccgccaatcccaattcacGagtgagtatattgggagcat	11	10	1	1	rs201838208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:17517141G>A	ENST00000511148.2	+	1	354	c.252G>A	c.(250-252)acG>acA	p.T84T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	84						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCAATTCACGAGTGAGTATA	0.483													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18289	0.0		0.0	False		,,,				2504	0.0				p.T84T		Atlas-SNP	.											.	CLRN2	40	.	0			c.G252A						PASS	.	G		5,3809		0,5,1902	46	45	45		252	-10.8	0.1	4		45	0,8216		0,0,4108	yes	coding-synonymous-near-splice	CLRN2	NM_001079827.2		0,5,6010	AA,AG,GG		0.0,0.1311,0.0416		84/233	17517141	5,12025	1907	4108	6015	SO:0001630	splice_region_variant	645104	exon1			ATTCACGAGTGAG		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.253+1G>A	4.37:g.17517141G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	148	80	0.540541	NM_001079827		Silent	SNP	ENST00000511148.2	37	CCDS47032.1																																																																																			.	.	weak		0.483	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	Silent	A	17517141	G	A	17517141	5	1	22	1	0	0	0	0	0	0	1	0	3558	1072	37	1	254	1	CLRN2	4	17517141	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1301690	17517141	173637135	2545	7653										
MED28	80306	hgsc.bcm.edu	37	chr4	17616349	17616349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggccccgccgggccttccGggccaagcttcgcttcttca	11	18	2	0	rs146036794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:17616349G>A	ENST00000237380.7	+	1	96	c.72G>A	c.(70-72)ccG>ccA	p.P24P	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	24					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						CGGGCCTTCCGGGCCAAGCTT	0.587													G|||	27	0.00539137	0.0204	0.0	5008	,	,		14224	0.0		0.0	False		,,,				2504	0.0				p.P24P		Atlas-SNP	.											.	MED28	16	.	0			c.G72A						PASS	.	G		68,4338	54.9+/-90.9	1,66,2136	51	60	57		72	2.6	1	4	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MED28	NM_025205.3		1,68,6434	AA,AG,GG		0.0233,1.5433,0.5382		24/179	17616349	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	80306	exon1			CCTTCCGGGCCAA	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.72G>A	4.37:g.17616349G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	156	72	0.461538	NM_025205	Q9BZJ5	Silent	SNP	ENST00000237380.7	37	CCDS33963.1																																																																																			G|0.996;A|0.004	0.004	strong		0.587	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		A	17616349	G	A	17616349	2	1	22	1	0	0	0	0	0	0	0	1	9446	1103	39	1		1	MED28	4	17616349	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99208	17616349	173537927	2546	7654										
DCAF16	54876	hgsc.bcm.edu	37	chr4	17805379	17805379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagagagccggctgggacttGtaagaggcttttgaaaaggt	15	5	0	3	rs7690457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:17805379G>A	ENST00000382247.1	-	3	1446	c.386C>T	c.(385-387)aCa>aTa	p.T129I	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Missense_Mutation_p.T129I	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	129			T -> I (in dbSNP:rs7690457).		protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCTGGGACTTGTAAGAGGCTT	0.507													G|||	580	0.115815	0.2648	0.0259	5008	,	,		17963	0.1002		0.0249	False		,,,				2504	0.0879				p.T129I		Atlas-SNP	.											.	DCAF16	19	.	0			c.C386T						PASS	.	G	ILE/THR	978,3428	366.6+/-317.9	109,760,1334	145	154	151		386	-7.8	0	4	dbSNP_116	151	251,8349	99.3+/-160.8	1,249,4050	yes	missense	DCAF16	NM_017741.3	89	110,1009,5384	AA,AG,GG		2.9186,22.197,9.4495	benign	129/217	17805379	1229,11777	2203	4300	6503	SO:0001583	missense	54876	exon3			GGACTTGTAAGAG	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.386C>T	4.37:g.17805379G>A	ENSP00000371682:p.Thr129Ile	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	234	110	0.470085	NM_017741	B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	CCDS3423.1	228	0.1043956043956044	140	0.2845528455284553	10	0.027624309392265192	57	0.09965034965034965	21	0.027704485488126648	G	10.28	1.307852	0.23821	0.22197	0.029186	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.32272	1.46;1.46	3.91	-7.81	0.01210	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	8	0.87932	D	0	5.3752	1.8409	0.03150	0.4934:0.1097:0.1651:0.2318	rs7690457;rs52827649;rs57652056;rs7690457	129	Q9NXF7	DCA16_HUMAN	I	129	ENSP00000371682:T129I;ENSP00000445736:T129I	ENSP00000371682:T129I	T	-	2	0	DCAF16	17414477	0.063000	0.20901	0.001000	0.08648	0.903000	0.53119	-1.319000	0.02702	-2.132000	0.00814	-0.367000	0.07326	ACA	G|0.893;A|0.107	0.107	strong		0.507	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		A	17805379	G	A	17805379	3	1	22	1	0	0	0	0	1	0	0	0	4268	1377	48	2	268	2	DCAF16	4	17805379	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	189030	17805379	173348897	2547	7655										
PPARGC1A	10891	hgsc.bcm.edu	37	chr4	23815681	23815681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggtcttgtctgcttcgtcGtcaaaaacagcttgactggg	11	11	3	1	rs17574213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:23815681G>A	ENST00000264867.2	-	8	1544	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	475	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGCTTCGTCGTCAAAAACAG	0.468													G|||	117	0.0233626	0.0174	0.0403	5008	,	,		19749	0.0		0.0497	False		,,,				2504	0.0164				p.D475D	Esophageal Squamous(29;694 744 13796 34866 44181)	Atlas-SNP	.											.	PPARGC1A	129	.	0			c.C1425T						PASS	.	G		138,4268	98.9+/-137.6	3,132,2068	116	104	108		1425	0.9	1	4	dbSNP_123	108	580,8020	155.4+/-209.4	21,538,3741	no	coding-synonymous	PPARGC1A	NM_013261.3		24,670,5809	AA,AG,GG		6.7442,3.1321,5.5205		475/799	23815681	718,12288	2203	4300	6503	SO:0001819	synonymous_variant	10891	exon8			TTCGTCGTCAAAA	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1425C>T	4.37:g.23815681G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	114	41	0.359649	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																			G|0.955;A|0.045	0.045	strong		0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		A	23815681	G	A	23815681	2	1	22	1	0	0	0	0	0	0	0	1	12300	1136	40	1		1	PPARGC1A	4	23815681	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6010302	23815681	167338595	2548	7656										
LGI2	55203	hgsc.bcm.edu	37	chr4	25005193	25005193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgaacgaggcgcctgcacGtaaatctccttaaacttttt	7	10	1	1	rs2232028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:25005193G>A	ENST00000382114.4	-	8	1703	c.1518C>T	c.(1516-1518)taC>taT	p.Y506Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	506						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCGCCTGCACGTAAATCTCCT	0.408													A|||	3835	0.765775	0.9115	0.6455	5008	,	,		17150	0.9742		0.4632	False		,,,				2504	0.7505				p.Y506Y		Atlas-SNP	.											.	LGI2	62	.	0			c.C1518T						PASS	.	A		3719,687	287.8+/-279.5	1570,579,54	92	102	98		1518	-3.8	0.7	4	dbSNP_98	98	3924,4676	605.9+/-395.0	933,2058,1309	no	coding-synonymous	LGI2	NM_018176.3		2503,2637,1363	AA,AG,GG		45.6279,15.5924,41.2348		506/546	25005193	7643,5363	2203	4300	6503	SO:0001819	synonymous_variant	55203	exon8			CTGCACGTAAATC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1518C>T	4.37:g.25005193G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	163	72	0.441718	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	CCDS3431.1																																																																																			G|0.332;A|0.668	0.668	strong		0.408	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			A	25005193	G	A	25005193	2	1	22	1	0	0	0	0	0	0	0	1	8752	1140	40	1		1	LGI2	4	25005193	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1189512	25005193	166149083	2549	7657										
SEL1L3	23231	hgsc.bcm.edu	37	chr4	25806279	25806279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggggacgatagagctaaTttggtgaagaccatcaatgc	12	6	1	3	rs16877591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:25806279T>C	ENST00000399878.3	-	10	1782	c.1660A>G	c.(1660-1662)Att>Gtt	p.I554V	SEL1L3_ENST00000502949.1_Missense_Mutation_p.I401V|SEL1L3_ENST00000264868.5_Missense_Mutation_p.I519V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	554			I -> V (in dbSNP:rs16877591).			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATAGAGCTAATTTGGTGAAGA	0.423													T|||	315	0.0628994	0.2307	0.013	5008	,	,		19704	0.001		0.0	False		,,,				2504	0.0				p.I554V		Atlas-SNP	.											.	SEL1L3	62	.	0			c.A1660G						PASS	.	T	VAL/ILE	657,3117		65,527,1295	105	101	102		1660	4.8	1	4	dbSNP_123	102	5,8259		0,5,4127	yes	missense	SEL1L3	NM_015187.3	29	65,532,5422	CC,CT,TT		0.0605,17.4086,5.4993	benign	554/1133	25806279	662,11376	1887	4132	6019	SO:0001583	missense	23231	exon10			AGCTAATTTGGTG	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1660A>G	4.37:g.25806279T>C	ENSP00000382767:p.Ile554Val	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	237	120	0.506329	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	103	0.04716117216117216	98	0.1991869918699187	5	0.013812154696132596	0	0.0	0	0.0	T	2.128	-0.399879	0.04865	0.174086	6.05E-4	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15139	2.64;2.67;2.45	6.02	4.84	0.62591	Tetratricopeptide-like helical (1);	0.609972	0.19314	N	0.117326	T	0.00012	0.0000	L	0.46157	1.445	0.35888	P	0.17056099999999996	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	9	0.22706	T	0.39	-16.5487	1.9195	0.03304	0.1312:0.1514:0.1366:0.5808	rs16877591;rs56773321;rs16877591	554	Q68CR1	SE1L3_HUMAN	V	554;519;401	ENSP00000382767:I554V;ENSP00000264868:I519V;ENSP00000425438:I401V	ENSP00000264868:I519V	I	-	1	0	SEL1L3	25415377	0.939000	0.31865	1.000000	0.80357	0.338000	0.28826	0.314000	0.19432	1.093000	0.41377	0.533000	0.62120	ATT	T|0.933;C|0.067	0.067	strong		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		C	25806279	T	C	25806279	3	2	22	1	0	0	0	0	1	0	0	0	14012	1493	52	2	1798	2	SEL1L3	4	25806279	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	801086	25806279	165347997	2550	7658										
SEL1L3	23231	hgsc.bcm.edu	37	chr4	25806319	25806319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagagagtctctttacagcCttctcaaatatcttcccacc	4	14	3	1	rs34954596	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:25806319C>T	ENST00000399878.3	-	10	1742	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	SEL1L3_ENST00000502949.1_Silent_p.K387K|SEL1L3_ENST00000264868.5_Silent_p.K505K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	540						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTTTACAGCCTTCTCAAATA	0.418													C|||	92	0.0183706	0.0015	0.0144	5008	,	,		19601	0.0188		0.0318	False		,,,				2504	0.0297				p.K540K		Atlas-SNP	.											.	SEL1L3	62	.	0			c.G1620A						PASS	.	C		20,3708		0,20,1844	113	107	109		1620	1.4	1	4	dbSNP_126	109	250,7988		5,240,3874	no	coding-synonymous	SEL1L3	NM_015187.3		5,260,5718	TT,TC,CC		3.0347,0.5365,2.2564		540/1133	25806319	270,11696	1864	4119	5983	SO:0001819	synonymous_variant	23231	exon10			TACAGCCTTCTCA	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1620G>A	4.37:g.25806319C>T		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	270	130	0.481481	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	CCDS47037.1																																																																																			C|0.978;T|0.022	0.022	strong		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25806319	C	T	25806319	2	4	22	1	0	0	0	0	0	0	0	1	14012	680	24	2		2	SEL1L3	4	25806319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40	25806319	165347957	2551	7659										
SEL1L3	23231	hgsc.bcm.edu	37	chr4	25849329	25849329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaattgacaacacaaggcTgagagcataaatactcaacc	6	11	1	2	rs16877661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:25849329T>C	ENST00000399878.3	-	2	442	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.Q72R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	107			Q -> R (in dbSNP:rs16877661).			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AACACAAGGCTGAGAGCATAA	0.408													T|||	106	0.0211661	0.0779	0.0043	5008	,	,		20619	0.0		0.0	False		,,,				2504	0.0				p.Q107R		Atlas-SNP	.											.	SEL1L3	62	.	0			c.A320G						PASS	.	T	ARG/GLN	216,3516		6,204,1656	116	105	108		320	5.2	1	4	dbSNP_123	108	2,8224		0,2,4111	yes	missense	SEL1L3	NM_015187.3	43	6,206,5767	CC,CT,TT		0.0243,5.7878,1.823	benign	107/1133	25849329	218,11740	1866	4113	5979	SO:0001583	missense	23231	exon2			CAAGGCTGAGAGC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.320A>G	4.37:g.25849329T>C	ENSP00000382767:p.Gln107Arg	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	103	52	0.504854	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	35	0.016025641025641024	32	0.06504065040650407	3	0.008287292817679558	0	0.0	0	0.0	T	12.92	2.082924	0.36758	0.057878	2.43E-4	ENSG00000091490	ENST00000399878;ENST00000264868	T;T	0.11712	2.75;2.76	5.25	5.25	0.73442	.	0.355245	0.29980	N	0.010710	T	0.00666	0.0022	L	0.38531	1.155	0.80722	D	1	B	0.16396	0.017	B	0.15870	0.014	T	0.18745	-1.0327	10	0.59425	D	0.04	-16.01	9.7021	0.40194	0.0:0.0776:0.0:0.9224	rs16877661;rs52796481;rs16877661	107	Q68CR1	SE1L3_HUMAN	R	107;72	ENSP00000382767:Q107R;ENSP00000264868:Q72R	ENSP00000264868:Q72R	Q	-	2	0	SEL1L3	25458427	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.246000	0.51414	1.995000	0.58328	0.449000	0.29647	CAG	T|0.984;C|0.016	0.016	strong		0.408	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		C	25849329	T	C	25849329	3	2	22	1	0	0	0	0	1	0	0	0	14012	1580	55	3	3170	3	SEL1L3	4	25849329	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43010	25849329	165304947	2552	7660										
PCDH7	5099	hgsc.bcm.edu	37	chr4	31144189	31144189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgctggatgccggtccgCacttctccggagaggaagaa	13	12	1	2	rs148629328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:31144189C>T	ENST00000543491.1	+	3	3486	c.3486C>T	c.(3484-3486)cgC>cgT	p.R1162R				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCCGGTCCGCACTTCTCCGG	0.552													C|||	19	0.00379393	0.0144	0.0	5008	,	,		15274	0.0		0.0	False		,,,				2504	0.0				p.R1162R		Atlas-SNP	.											.	PCDH7	215	.	0			c.C3486T						PASS	.	C	,	56,3986		0,56,1965	91	91	91		3486,3462	2.1	1	4	dbSNP_134	91	2,8402		0,2,4200	no	coding-synonymous,coding-synonymous	PCDH7	NM_001173523.1,NM_032457.3	,	0,58,6165	TT,TC,CC		0.0238,1.3855,0.466	,	1162/1256,1154/1248	31144189	58,12388	2021	4202	6223	SO:0001819	synonymous_variant	5099	exon3			GGTCCGCACTTCT	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3486C>T	4.37:g.31144189C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	114	54	0.473684	NM_001173523	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	CCDS54753.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	5.456	0.269217	0.10349	0.013855	2.38E-4	ENSG00000169851	ENST00000511884	.	.	.	5.86	2.14	0.27477	.	.	.	.	.	T	0.51109	0.1655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48364	-0.9042	4	.	.	.	.	10.4605	0.44577	0.0:0.731:0.0:0.269	.	.	.	.	Y	844	.	.	H	+	1	0	PCDH7	30753287	0.983000	0.35010	0.999000	0.59377	0.829000	0.46940	0.584000	0.23864	0.146000	0.19002	0.650000	0.86243	CAC	C|0.997;T|0.003	0.003	strong		0.552	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		T	31144189	C	T	31144189	2	4	22	1	0	0	0	0	0	0	0	1	11516	697	25	2		2	PCDH7	4	31144189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5294860	31144189	160010087	2553	7661										
ARAP2	116984	hgsc.bcm.edu	37	chr4	36152584	36152584	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataacttcattgatattaatGgtgccattaggtgtggtaga	10	4	1	2	rs13148785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:36152584G>T	ENST00000303965.4	-	16	3324	c.2835C>A	c.(2833-2835)acC>acA	p.T945T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	945	PH 3. {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						TGATATTAATGGTGCCATTAG	0.343													G|||	275	0.0549121	0.0862	0.0461	5008	,	,		16646	0.0		0.0934	False		,,,				2504	0.0358				p.T945T		Atlas-SNP	.											.	ARAP2	210	.	0			c.C2835A						PASS	.	G		409,3997	201.1+/-224.2	24,361,1818	167	172	170		2835	1.1	1	4	dbSNP_121	170	847,7749	193.7+/-239.3	41,765,3492	no	coding-synonymous	ARAP2	NM_015230.3		65,1126,5310	TT,TG,GG		9.8534,9.2828,9.6601		945/1705	36152584	1256,11746	2203	4298	6501	SO:0001819	synonymous_variant	116984	exon16			ATTAATGGTGCCA	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.2835C>A	4.37:g.36152584G>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	109	52	0.477064	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																			G|0.916;T|0.084	0.084	strong		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		T	36152584	G	T	36152584	2	4	22	1	0	0	0	0	0	0	0	1	839	1335	47	4		4	ARAP2	4	36152584	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5008395	36152584	155001692	2554	7662										
PGM2	55276	hgsc.bcm.edu	37	chr4	37836302	37836302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaaggcatcgtgatcagTtttgacgcccgagctcatcc	10	12	2	3	rs3752683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:37836302T>C	ENST00000381967.4	+	3	412	c.312T>C	c.(310-312)agT>agC	p.S104S	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	104					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCGTGATCAGTTTTGACGCCC	0.338													C|||	1722	0.34385	0.6755	0.2781	5008	,	,		14222	0.2748		0.2167	False		,,,				2504	0.1442				p.S104S		Atlas-SNP	.											.	PGM2	45	.	0			c.T312C						PASS	.	C		2711,1695	651.8+/-399.3	835,1041,327	91	102	99		312	2.3	1	4	dbSNP_107	99	1856,6744	331.4+/-319.6	196,1464,2640	no	coding-synonymous	PGM2	NM_018290.3		1031,2505,2967	CC,CT,TT		21.5814,38.4703,35.1146		104/613	37836302	4567,8439	2203	4300	6503	SO:0001819	synonymous_variant	55276	exon3			GATCAGTTTTGAC	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.312T>C	4.37:g.37836302T>C		Somatic	327	2	0.00611621		WXS	Illumina HiSeq	Phase_I	275	275	1	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	CCDS3443.1																																																																																			T|0.651;C|0.349	0.349	strong		0.338	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		C	37836302	T	C	37836302	2	2	22	1	0	0	0	0	0	0	0	1	11798	1722	60	2		2	PGM2	4	37836302	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1683718	37836302	153317974	2555	7663										
PGM2	55276	hgsc.bcm.edu	37	chr4	37857342	37857342	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaagtactatgcagagctGtgtgccccacctgggaacag	11	11	1	1	rs11554509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:37857342G>C	ENST00000381967.4	+	13	1816	c.1716G>C	c.(1714-1716)ctG>ctC	p.L572L	PGM2_ENST00000537241.1_Silent_p.L412L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	572					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATGCAGAGCTGTGTGCCCCAC	0.493													G|||	862	0.172125	0.323	0.1167	5008	,	,		16436	0.1091		0.1471	False		,,,				2504	0.0982				p.L572L		Atlas-SNP	.											.	PGM2	45	.	0			c.G1716C						PASS	.	G		1271,3135	434.9+/-344.1	192,887,1124	98	90	93		1716	3	1	4	dbSNP_120	93	1189,7411	241.8+/-272.0	92,1005,3203	no	coding-synonymous	PGM2	NM_018290.3		284,1892,4327	CC,CG,GG		13.8256,28.847,18.9143		572/613	37857342	2460,10546	2203	4300	6503	SO:0001819	synonymous_variant	55276	exon13			AGAGCTGTGTGCC	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1716G>C	4.37:g.37857342G>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	147	69	0.469388	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	CCDS3443.1																																																																																			G|0.826;C|0.174	0.174	strong		0.493	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		C	37857342	G	C	37857342	2	2	22	1	0	0	0	0	0	0	0	1	11798	1364	48	4		4	PGM2	4	37857342	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21040	37857342	153296934	2556	7664										
PTTG2	23216	hgsc.bcm.edu	37	chr4	37962186	37962186	+	Intron	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatctcaagttttaacacGacgttttggcaaaacatacg	7	8	1	0	rs6811863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:37962186G>C	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.R44P	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GTTTTAACACGACGTTTTGGC	0.463													C|||	3655	0.729832	0.6967	0.7017	5008	,	,		19910	0.9583		0.5746	False		,,,				2504	0.7188				p.R44P		Atlas-SNP	.											.	PTTG2	15	.	0			c.G131C						PASS	.	C	PRO/ARG,	3099,1303	406.4+/-333.9	1113,873,215	71	75	74		131,	-4	0	4	dbSNP_116	74	4855,3745	526.1+/-380.9	1365,2125,810	yes	missense,intron	PTTG2,TBC1D1	NM_006607.2,NM_015173.2	103,	2478,2998,1025	CC,CG,GG		43.5465,29.6002,38.8248	possibly-damaging,	44/192,	37962186	7954,5048	2201	4300	6501	SO:0001627	intron_variant	10744	exon1			TAACACGACGTTT	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53944G>C	4.37:g.37962186G>C		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	223	223	1	NM_006607	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	1589	0.7275641025641025	343	0.6971544715447154	251	0.6933701657458563	557	0.9737762237762237	438	0.5778364116094987	C	1.255	-0.617482	0.03663	0.703998	0.564535	ENSG00000250254	ENST00000504686	T	0.37915	1.17	2.02	-4.04	0.04010	.	.	.	.	.	T	0.00012	0.0000	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.02654	T	1	.	1.3883	0.02245	0.4846:0.2124:0.1647:0.1384	rs6811863;rs16994115;rs52800308;rs58556101;rs6811863	44	Q9NZH5-2	.	P	44	ENSP00000424261:R44P	ENSP00000424261:R44P	R	+	2	0	PTTG2	37638581	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	-1.494000	0.01833	-1.544000	0.00907	CGA	G|0.275;C|0.725	0.725	strong		0.463	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		C	37962186	G	C	37962186	1	2	22	0	1	0	0	0	0	0	0	0	12821	1058	37	4		4	PTTG2	4	37962186	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	104844	37962186	153192090	2557	7665										
PTTG2	23216	hgsc.bcm.edu	37	chr4	37962609	37962610	+	Intron	DEL	AT	AT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttgcagtctccttcaagcAttctgtcgaccctggatgtt					rs199908908|rs200376306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:37962609_37962610delAT	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Frame_Shift_Del_p.H185fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTTCAAGCATTCTGTCGACC	0.441														72	0.014377	0.0129	0.0173	5008	,	,		19631	0.001		0.0189	False		,,,				2504	0.0235				p.185_185del		Pindel	.											.	PTTG2	15	.	0			c.553_554del						PASS	.		,	57,4209		0,57,2076					,	1.4	0			194	116,8138		1,114,4012	no	intron,frameshift	PTTG2,TBC1D1	NM_015173.2,NM_006607.2	,	1,171,6088	A1A1,A1R,RR		1.4054,1.3361,1.3818	,	,		173,12347				SO:0001627	intron_variant	10744	exon1			.	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53520AT>-	4.37:g.37962609_37962610delAT		Somatic	113	.	.		WXS	Illumina HiSeq	Phase_I	106	43	0.406	NM_006607	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	CCDS33972.1																																																																																			AT|0.986;-|0.014	0.014	strong		0.441	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		-	37962610	AT	-	37962609	6	5	22	0	1	1	0	1	0	0	0	0	12821	217	8	0		0	PTTG2	4	37962609	Intron	DEL	AT	TCGA-G8-6324-01A-11D-2210-10	423	37962609	153191667	2558	7666										
TLR10	81793	hgsc.bcm.edu	37	chr4	38776107	38776107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaagtgaggcagttggaTagttcttttaaacaactcgt	9	6	2	1	rs11096955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38776107T>G	ENST00000308973.4	-	4	1710	c.1105A>C	c.(1105-1107)Atc>Ctc	p.I369L	TLR10_ENST00000508334.1_Missense_Mutation_p.I369L|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.I369L|TLR10_ENST00000361424.2_Missense_Mutation_p.I369L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	369			I -> L (in dbSNP:rs11096955). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGCAGTTGGATAGTTCTTTTA	0.353													T|||	2502	0.499601	0.5469	0.4179	5008	,	,		20490	0.5546		0.3976	False		,,,				2504	0.5419				p.I369L		Atlas-SNP	.											TLR10,colon,carcinoma,0,1	TLR10	87	1	0			c.A1105C	GRCh37	CM057766	TLR10	M	rs11096955	PASS	.	T	LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE	2232,2174	586.9+/-386.6	551,1130,522	73	79	77		1105,1105,1105,1063,1105	1.2	0.2	4	dbSNP_120	77	2951,5649	455.3+/-363.7	525,1901,1874	yes	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	5,5,5,5,5	1076,3031,2396	GG,GT,TT		34.314,49.3418,39.8508	benign,benign,benign,benign,benign	369/812,369/812,369/812,355/798,369/812	38776107	5183,7823	2203	4300	6503	SO:0001583	missense	81793	exon2			GTTGGATAGTTCT	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1105A>C	4.37:g.38776107T>G	ENSP00000308925:p.Ile369Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	105	104	0.990476	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	1058	0.48443223443223443	271	0.5508130081300813	150	0.4143646408839779	353	0.6171328671328671	284	0.37467018469656993	T	4.611	0.113581	0.08831	0.506582	0.34314	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.17	1.24	0.21308	.	0.844930	0.09983	N	0.730685	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	9	0.26408	T	0.33	.	1.3343	0.02142	0.1332:0.2345:0.1548:0.4775	rs11096955;rs11096955	369	Q9BXR5	TLR10_HUMAN	L	369	ENSP00000308925:I369L;ENSP00000421483:I369L;ENSP00000354459:I369L;ENSP00000424923:I369L	ENSP00000308925:I369L	I	-	1	0	TLR10	38452502	0.000000	0.05858	0.198000	0.23420	0.683000	0.39861	-0.986000	0.03747	0.778000	0.33520	0.477000	0.44152	ATC	T|0.553;G|0.447	0.447	strong		0.353	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			G	38776107	T	G	38776107	3	3	22	1	0	0	0	0	1	0	0	0	15947	1406	49	5	1334	5	TLR10	4	38776107	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	813498	38776107	152378169	2559	7667										
TLR10	81793	hgsc.bcm.edu	37	chr4	38776303	38776303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaatgtacatgctccaaTtttatagttctcattacagt	5	8	1	1	rs11466652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38776303T>C	ENST00000308973.4	-	4	1514	c.909A>G	c.(907-909)aaA>aaG	p.K303K	TLR10_ENST00000508334.1_Silent_p.K303K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.K303K|TLR10_ENST00000361424.2_Silent_p.K303K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	303					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CATGCTCCAATTTTATAGTTC	0.343													T|||	1009	0.201478	0.3374	0.0994	5008	,	,		19962	0.122		0.1481	False		,,,				2504	0.227				p.K303K		Atlas-SNP	.											TLR10,NS,carcinoma,-2,1	TLR10	87	1	0			c.A909G						PASS	.	T	,,,,	1253,3153	423.6+/-340.2	167,919,1117	83	85	85		909,909,909,867,909	1.3	0.8	4	dbSNP_120	85	1200,7398	241.4+/-271.8	85,1030,3184	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	,,,,	252,1949,4301	CC,CT,TT		13.9567,28.4385,18.8634	,,,,	303/812,303/812,303/812,289/798,303/812	38776303	2453,10551	2203	4299	6502	SO:0001819	synonymous_variant	81793	exon2			CTCCAATTTTATA	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.909A>G	4.37:g.38776303T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	CCDS3445.1																																																																																			T|0.814;C|0.186	0.186	strong		0.343	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			C	38776303	T	C	38776303	2	2	22	1	0	0	0	0	0	0	0	1	15947	1490	52	2		2	TLR10	4	38776303	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	196	38776303	152377973	2560	7668										
TLR10	81793	hgsc.bcm.edu	37	chr4	38776491	38776491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaaccgatgtcttagcatTttctaaactaagatttcgtt	6	7	2	2	rs11096957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38776491T>G	ENST00000308973.4	-	4	1326	c.721A>C	c.(721-723)Aat>Cat	p.N241H	TLR10_ENST00000506111.1_Missense_Mutation_p.N241H|TLR10_ENST00000361424.2_Missense_Mutation_p.N241H|TLR10_ENST00000508334.1_Missense_Mutation_p.N241H|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	241			N -> H (in dbSNP:rs11096957). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTCTTAGCATTTTCTAAACTA	0.328													T|||	2504	0.5	0.5492	0.4179	5008	,	,		21745	0.5546		0.3976	False		,,,				2504	0.5409				p.N241H		Atlas-SNP	.											.	TLR10	87	.	0			c.A721C	GRCh37	CM057765	TLR10	M	rs11096957	PASS	.	T	HIS/ASN,HIS/ASN,HIS/ASN,HIS/ASN,HIS/ASN	2231,2175	586.8+/-386.5	551,1129,523	60	59	59		721,721,721,679,721	4.9	0.4	4	dbSNP_120	59	2951,5649	456.0+/-363.9	524,1903,1873	yes	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	68,68,68,68,68	1075,3032,2396	GG,GT,TT		34.314,49.3645,39.8431	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	241/812,241/812,241/812,227/798,241/812	38776491	5182,7824	2203	4300	6503	SO:0001583	missense	81793	exon2			TAGCATTTTCTAA	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.721A>C	4.37:g.38776491T>G	ENSP00000308925:p.Asn241His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	1057	0.483974358974359	271	0.5508130081300813	150	0.4143646408839779	353	0.6171328671328671	283	0.3733509234828496	T	9.059	0.993939	0.19043	0.506355	0.34314	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.91	4.91	0.64330	.	0.121673	0.34291	N	0.004086	T	0.00012	0.0000	M	0.74881	2.28	0.80722	P	0.0	P	0.45672	0.864	P	0.51415	0.669	T	0.46965	-0.9153	9	0.66056	D	0.02	.	14.5438	0.68015	0.0:0.0:0.0:1.0	rs11096957;rs58322425;rs11096957	241	Q9BXR5	TLR10_HUMAN	H	241	ENSP00000308925:N241H;ENSP00000421483:N241H;ENSP00000354459:N241H;ENSP00000424923:N241H	ENSP00000308925:N241H	N	-	1	0	TLR10	38452886	0.010000	0.17322	0.431000	0.26735	0.145000	0.21501	0.982000	0.29539	1.841000	0.53522	0.533000	0.62120	AAT	T|0.541;G|0.459	0.459	strong		0.328	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			G	38776491	T	G	38776491	3	3	22	1	0	0	0	0	1	0	0	0	15947	1841	64	5	1718	5	TLR10	4	38776491	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	188	38776491	152377785	2561	7669										
TLR10	81793	hgsc.bcm.edu	37	chr4	38777173	38777173	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccctctgctgtcataacAatactacaaaatatgtaaat	3	10	3	0	rs10856838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38777173A>T	ENST00000308973.4	-	4	644	c.39T>A	c.(37-39)atT>atA	p.I13I	TLR10_ENST00000508334.1_Silent_p.I13I|TLR10_ENST00000506111.1_Silent_p.I13I|TLR10_ENST00000361424.2_Silent_p.I13I|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	13					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTGTCATAACAATACTACAAA	0.403													A|||	1657	0.330871	0.5053	0.2723	5008	,	,		16858	0.2302		0.1909	False		,,,				2504	0.3845				p.I13I		Atlas-SNP	.											.	TLR10	87	.	0			c.T39A						PASS	.	A	,,,,	2028,2378	563.5+/-381.2	466,1096,641	68	68	68		39,39,39,,39	2.6	0	4	dbSNP_120	68	1423,7177	273.5+/-290.7	129,1165,3006	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-5,coding-synonymous	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	,,,,	595,2261,3647	TT,TA,AA		16.5465,46.0281,26.5339	,,,,	13/812,13/812,13/812,,13/812	38777173	3451,9555	2203	4300	6503	SO:0001819	synonymous_variant	81793	exon2			CATAACAATACTA	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.39T>A	4.37:g.38777173A>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	CCDS3445.1																																																																																			A|0.721;T|0.279	0.279	strong		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			T	38777173	A	T	38777173	2	4	22	1	0	0	0	0	0	0	0	1	15947	126	5	5		5	TLR10	4	38777173	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	682	38777173	152377103	2562	7670										
TLR1	7096	hgsc.bcm.edu	37	chr4	38798648	38798648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagggcagatccaagtagCtgcagagggaggtcacagtc	14	10	1	2	rs5743618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38798648C>A	ENST00000502213.2	-	3	2034	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	TLR1_ENST00000308979.2_Missense_Mutation_p.S602I|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	602			S -> I (severe impairment of activity; dbSNP:rs5743618). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19924287, ECO:0000269|PubMed:21618349, ECO:0000269|PubMed:9435236}.		cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ATCCAAGTAGCTGCAGAGGGA	0.527													A|||	4009	0.800519	0.9644	0.7161	5008	,	,		17831	0.994		0.327	False		,,,				2504	0.9264				p.S602I	GBM(5;216 373 40795 46382)	Atlas-SNP	.											.	TLR1	70	.	0			c.G1805T	GRCh37	CM073378	TLR1	M	rs5743618	PASS	.	A	ILE/SER	3744,660	269.8+/-269.2	1604,536,62	62	85	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1805	2.8	0.4	4	dbSNP_114	77	2480,6120	694.3+/-404.7	377,1726,2197	no	missense	TLR1	NM_003263.3	142	1981,2262,2259	AA,AC,CC		28.8372,14.9864,47.8622	benign	602/787	38798648	6224,6780	2202	4300	6502	SO:0001583	missense	7096	exon4			AAGTAGCTGCAGA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1805G>T	4.37:g.38798648C>A	ENSP00000421259:p.Ser602Ile	Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	1461	0.6689560439560439	468	0.9512195121951219	237	0.6546961325966851	564	0.986013986013986	192	0.2532981530343008	A	0.014	-1.580406	0.00879	0.850136	0.288372	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01767	4.65;4.65	5.43	2.76	0.32466	.	1.586730	0.03541	N	0.223979	T	0.00012	0.0000	N	0.00082	-2.215	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	9	0.02654	T	1	.	8.4818	0.33047	0.4839:0.3908:0.0:0.1253	rs5743618;rs6842300;rs59314548	602	Q15399	TLR1_HUMAN	I	602	ENSP00000354932:S602I;ENSP00000421259:S602I	ENSP00000354932:S602I	S	-	2	0	TLR1	38475043	0.000000	0.05858	0.429000	0.26710	0.653000	0.38743	0.626000	0.24492	0.431000	0.26258	-0.256000	0.11100	AGC	.	.	weak		0.527	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			A	38798648	C	A	38798648	3	1	22	1	0	0	0	0	1	0	0	0	15946	797	28	4	559	4	TLR1	4	38798648	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21475	38798648	152355628	2563	7671										
TLR1	7096	hgsc.bcm.edu	37	chr4	38798935	38798935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctctggaagaaatcagcCgatgggtgggaaactgaatt	13	7	2	2	rs5743614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38798935C>T	ENST00000502213.2	-	3	1747	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	TLR1_ENST00000308979.2_Silent_p.S506S|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	506					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAAATCAGCCGATGGGTGGG	0.418													c|||	2802	0.559505	0.8404	0.4654	5008	,	,		18263	0.5992		0.2744	False		,,,				2504	0.499				p.S506S	GBM(5;216 373 40795 46382)	Atlas-SNP	.											TLR1,NS,carcinoma,-1,1	TLR1	70	1	0			c.G1518A						PASS	.						75	79	78					4																	38798935		2202	4280	6482	SO:0001819	synonymous_variant	7096	exon4			ATCAGCCGATGGG	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1518G>A	4.37:g.38798935C>T		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	269	217	0.806691	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	CCDS33973.1																																																																																			C|0.575;T|0.425	0.425	strong		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38798935	C	T	38798935	2	4	22	1	0	0	0	0	0	0	0	1	15946	639	23	1		1	TLR1	4	38798935	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	287	38798935	152355341	2564	7672										
TLR1	7096	hgsc.bcm.edu	37	chr4	38799710	38799710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgttgtttaaggtaagaTttgataactttggatttgtt	9	2	0	2	rs4833095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38799710T>C	ENST00000502213.2	-	3	972	c.743A>G	c.(742-744)aAt>aGt	p.N248S	TLR1_ENST00000308979.2_Missense_Mutation_p.N248S			Q15399	TLR1_HUMAN	toll-like receptor 1	248			N -> S (may confer susceptibility to leprosy; dbSNP:rs4833095). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21618349, ECO:0000269|PubMed:9435236}.		cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAAGGTAAGATTTGATAACTT	0.333													C|||	2878	0.574681	0.8797	0.4726	5008	,	,		21271	0.5992		0.2803	False		,,,				2504	0.5123				p.N248S	GBM(5;216 373 40795 46382)	Atlas-SNP	.											.	TLR1	70	.	0			c.A743G						PASS	.	C	SER/ASN	3424,982	331.5+/-302.0	1332,760,111	60	66	64	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743	-3.2	0	4	dbSNP_111	64	2141,6457	702.3+/-405.3	278,1585,2436	yes	missense	TLR1	NM_003263.3	46	1610,2345,2547	CC,CT,TT		24.9011,22.2878,42.7945	benign	248/787	38799710	5565,7439	2203	4299	6502	SO:0001583	missense	7096	exon4			GTAAGATTTGATA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.743A>G	4.37:g.38799710T>C	ENSP00000421259:p.Asn248Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	1156	0.5293040293040293	436	0.8861788617886179	160	0.4419889502762431	377	0.6590909090909091	183	0.24142480211081793	C	1.852	-0.464903	0.04476	0.777122	0.249011	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.29917	1.55;1.55	4.69	-3.18	0.05186	.	0.539821	0.18243	N	0.147178	T	0.00012	0.0000	L	0.31207	0.915	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.20739	-1.0266	9	0.30078	T	0.28	.	11.4828	0.50335	0.0:0.3819:0.0:0.6181	rs4833095;rs58946512;rs4833095	248	Q15399	TLR1_HUMAN	S	248	ENSP00000354932:N248S;ENSP00000421259:N248S	ENSP00000354932:N248S	N	-	2	0	TLR1	38476105	0.001000	0.12720	0.013000	0.15412	0.001000	0.01503	-0.228000	0.09114	-1.061000	0.03185	-1.073000	0.02249	AAT	T|0.512;C|0.488	0.488	strong		0.333	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			C	38799710	T	C	38799710	3	2	22	1	0	0	0	0	1	0	0	0	15946	1493	52	2	1621	2	TLR1	4	38799710	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	775	38799710	152354566	2565	7673										
TLR6	10333	hgsc.bcm.edu	37	chr4	38829702	38829702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttacgacttgtttaggaaCgctctttattttattgctgt	7	6	1	0	rs5743816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38829702C>T	ENST00000381950.1	-	1	1458	c.1393G>A	c.(1393-1395)Gtt>Att	p.V465I	TLR6_ENST00000436693.2_Missense_Mutation_p.V465I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	465			V -> I (in dbSNP:rs5743816). {ECO:0000269|PubMed:21618349}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTAGGAACGCTCTTTATT	0.388													c|||	159	0.0317492	0.1006	0.0029	5008	,	,		20792	0.0069		0.001	False		,,,				2504	0.0164				p.V465I		Atlas-SNP	.											.	TLR6	67	.	0			c.G1393A						PASS	.						133	145	141					4																	38829702		2203	4300	6503	SO:0001583	missense	10333	exon2			TAGGAACGCTCTT		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1393G>A	4.37:g.38829702C>T	ENSP00000371376:p.Val465Ile	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	211	80	0.379147	NM_006068	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	49	0.022435897435897436	45	0.09146341463414634	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	c	0	-2.849326	0.00066	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.48522	0.81;0.81	5.14	2.63	0.31362	.	0.182497	0.38326	N	0.001737	T	0.00875	0.0029	N	0.16201	0.385	0.45554	P	0.0014960000000000528	B	0.02656	0.0	B	0.10450	0.005	T	0.11567	-1.0582	9	0.07325	T	0.83	.	9.4019	0.38437	0.0:0.2162:0.0:0.7838	rs5743816	465	Q9Y2C9	TLR6_HUMAN	I	465	ENSP00000389600:V465I;ENSP00000371376:V465I	ENSP00000371376:V465I	V	-	1	0	TLR6	38506097	0.066000	0.20996	0.500000	0.27589	0.056000	0.15407	0.404000	0.20999	0.787000	0.33731	-0.578000	0.04140	GTT	C|0.931;T|0.069	0.069	strong		0.388	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38829702	C	T	38829702	3	4	22	1	0	0	0	0	1	0	0	0	15952	536	19	1	1001	1	TLR6	4	38829702	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29992	38829702	152324574	2566	7674										
FAM114A1	92689	hgsc.bcm.edu	37	chr4	38907222	38907222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctggatcttctgaaggAgcccaaccaaatactgaaaa	7	9	3	2	rs17501308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38907222A>G	ENST00000358869.2	+	5	692	c.516A>G	c.(514-516)ggA>ggG	p.G172G	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	172						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCTGAAGGAGCCCAACCAA	0.433													G|||	37	0.00738818	0.0257	0.0014	5008	,	,		17480	0.0		0.0	False		,,,				2504	0.002				p.G172G		Atlas-SNP	.											.	FAM114A1	42	.	0			c.A516G						PASS	.	G		110,4296	816.0+/-416.2	1,108,2094	100	102	101		516	2	0.2	4	dbSNP_123	101	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FAM114A1	NM_138389.2		1,109,6393	GG,GA,AA		0.0116,2.4966,0.8535		172/564	38907222	111,12895	2203	4300	6503	SO:0001819	synonymous_variant	92689	exon5			TGAAGGAGCCCAA		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.516A>G	4.37:g.38907222A>G		Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	171	96	0.561404	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	ENST00000358869.2	37	CCDS3447.1																																																																																			A|0.990;G|0.010	0.010	strong		0.433	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		G	38907222	A	G	38907222	2	3	22	1	0	0	0	0	0	0	0	1	5403	291	11	3		3	FAM114A1	4	38907222	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	77520	38907222	152247054	2567	7675										
FAM114A1	92689	hgsc.bcm.edu	37	chr4	38933869	38933869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcaggaagtatacatgtCgtccattgaaagtctggcgg	11	7	2	1	rs36058104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:38933869C>T	ENST00000358869.2	+	12	1513	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	FAM114A1_ENST00000515037.1_Missense_Mutation_p.S239L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	446			S -> L (in dbSNP:rs36058104).			cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTATACATGTCGTCCATTGAA	0.368													T|||	146	0.0291534	0.0734	0.0058	5008	,	,		17511	0.005		0.002	False		,,,				2504	0.0389				p.S446L		Atlas-SNP	.											.	FAM114A1	42	.	0			c.C1337T						PASS	.	T	LEU/SER	267,4139	799.7+/-415.5	6,255,1942	63	62	62		1337	4.4	0.7	4	dbSNP_126	62	53,8547	816.7+/-406.9	2,49,4249	yes	missense	FAM114A1	NM_138389.2	145	8,304,6191	TT,TC,CC		0.6163,6.0599,2.4604	benign	446/564	38933869	320,12686	2203	4300	6503	SO:0001583	missense	92689	exon12			ACATGTCGTCCAT		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1337C>T	4.37:g.38933869C>T	ENSP00000351740:p.Ser446Leu	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	261	106	0.40613	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	27	0.012362637362637362	22	0.044715447154471545	2	0.0055248618784530384	2	0.0034965034965034965	1	0.0013192612137203166	T	0.057	-1.233148	0.01505	0.060599	0.006163	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.22539	1.95;2.98	5.62	4.43	0.53597	.	0.312620	0.32231	N	0.006386	T	0.00468	0.0015	N	0.00446	-1.495	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36841	-0.9731	10	0.12103	T	0.63	-1.327	4.0001	0.09576	0.1273:0.068:0.1332:0.6715	rs36058104	239;446	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	L	239;446;239	ENSP00000424115:S239L;ENSP00000351740:S446L	ENSP00000347569:S239L	S	+	2	0	FAM114A1	38610264	1.000000	0.71417	0.736000	0.30914	0.196000	0.23810	3.031000	0.49728	0.411000	0.25702	-0.516000	0.04426	TCG	C|0.979;T|0.021	0.021	strong		0.368	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		T	38933869	C	T	38933869	3	4	22	1	0	0	0	0	1	0	0	0	5403	893	31	1	1375	1	FAM114A1	4	38933869	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26647	38933869	152220407	2568	7676										
TMEM156	80008	hgsc.bcm.edu	37	chr4	39033851	39033851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caattatatactcacctttcGgtgtcttgaaatattccggc	6	10	2	1	rs61732938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:39033851G>A	ENST00000381938.3	-	1	190	c.83C>T	c.(82-84)cCg>cTg	p.P28L	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	28						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTCACCTTTCGGTGTCTTGAA	0.333													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		16764	0.0		0.0	False		,,,				2504	0.0				p.P28L		Atlas-SNP	.											.	TMEM156	31	.	0			c.C83T						PASS	.	G	LEU/PRO	28,4376	31.7+/-61.6	0,28,2174	50	47	48		83	3.7	1	4	dbSNP_129	48	0,8600		0,0,4300	yes	missense	TMEM156	NM_024943.1	98	0,28,6474	AA,AG,GG		0.0,0.6358,0.2153	benign	28/297	39033851	28,12976	2202	4300	6502	SO:0001583	missense	80008	exon1			CCTTTCGGTGTCT	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.83C>T	4.37:g.39033851G>A	ENSP00000371364:p.Pro28Leu	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_024943	Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	CCDS3448.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.012	-1.665798	0.00765	0.006358	0.0	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.42513	1.98;0.97	5.39	3.65	0.41850	.	0.637311	0.14864	N	0.293940	T	0.19485	0.0468	L	0.34521	1.04	0.40731	D	0.982742	B	0.26902	0.163	B	0.22880	0.042	T	0.03384	-1.1042	10	0.09590	T	0.72	-3.7493	7.8212	0.29288	0.1868:0.0:0.8132:0.0	.	28	Q8N614	TM156_HUMAN	L	28	ENSP00000371364:P28L;ENSP00000343758:P28L	ENSP00000343758:P28L	P	-	2	0	TMEM156	38710246	0.962000	0.33011	0.992000	0.48379	0.081000	0.17604	1.670000	0.37502	1.404000	0.46819	-0.216000	0.12614	CCG	G|0.998;A|0.002	0.002	strong		0.333	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		A	39033851	G	A	39033851	3	1	22	1	0	0	0	0	1	0	0	0	16070	1116	39	1	831	1	TMEM156	4	39033851	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99982	39033851	152120425	2569	7677										
WDR19	57728	hgsc.bcm.edu	37	chr4	39267749	39267749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcctgggggagaacgatGgcatgcctaaggtactgaac	13	9	1	2	rs16995209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:39267749G>A	ENST00000399820.3	+	29	3404	c.3250G>A	c.(3250-3252)Ggc>Agc	p.G1084S	WDR19_ENST00000288634.7_Missense_Mutation_p.G924S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1084			G -> S (in dbSNP:rs16995209).		ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GGAGAACGATGGCATGCCTAA	0.453													G|||	185	0.0369409	0.1301	0.0173	5008	,	,		15274	0.0		0.001	False		,,,				2504	0.0				p.G1084S		Atlas-SNP	.											.	WDR19	96	.	0			c.G3250A						PASS	.	G	SER/GLY	417,3589		21,375,1607	68	72	71		3250	5.4	1	4	dbSNP_123	71	3,8325		0,3,4161	yes	missense	WDR19	NM_025132.3	56	21,378,5768	AA,AG,GG		0.036,10.4094,3.4052	probably-damaging	1084/1343	39267749	420,11914	2003	4164	6167	SO:0001583	missense	57728	exon29			AACGATGGCATGC	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3250G>A	4.37:g.39267749G>A	ENSP00000382717:p.Gly1084Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	161	66	0.409938	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	54	0.024725274725274724	49	0.09959349593495935	5	0.013812154696132596	0	0.0	0	0.0	G	18.81	3.703584	0.68501	0.104094	3.6E-4	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.68624	-0.34;-0.34	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	M	0.91090	3.175	0.80722	D	1	P	0.41947	0.766	P	0.47162	0.54	T	0.60662	-0.7219	10	0.52906	T	0.07	-18.5327	19.2559	0.93945	0.0:0.0:1.0:0.0	rs16995209;rs52802549;rs16995209	1084	Q8NEZ3	WDR19_HUMAN	S	1084;924	ENSP00000382717:G1084S;ENSP00000288634:G924S	ENSP00000288634:G924S	G	+	1	0	WDR19	38944144	1.000000	0.71417	0.983000	0.44433	0.048000	0.14542	9.108000	0.94275	2.539000	0.85634	0.455000	0.32223	GGC	G|0.962;A|0.038	0.038	strong		0.453	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			A	39267749	G	A	39267749	3	1	22	1	0	0	0	0	1	0	0	0	17276	1348	47	2	3364	2	WDR19	4	39267749	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	233898	39267749	151886527	2570	7678										
RFC1	5981	hgsc.bcm.edu	37	chr4	39306504	39306504	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttcaaactgctcttactCcgggtgtcacttgcattcag	8	13	4	0	rs2066792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:39306504C>G	ENST00000381897.1	-	15	2176	c.2043G>C	c.(2041-2043)cgG>cgC	p.R681R	RFC1_ENST00000349703.2_Silent_p.R680R	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	681					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTCTTACTCCGGGTGTCAC	0.433													C|||	397	0.0792732	0.2821	0.0346	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0				p.R681R	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Atlas-SNP	.											.	RFC1	114	.	0			c.G2043C						PASS	.	C	,	1058,3348	387.9+/-326.7	128,802,1273	261	268	266		2043,2040	1.7	1	4	dbSNP_94	266	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous,coding-synonymous	RFC1	NM_001204747.1,NM_002913.4	,	128,807,5568	GG,GC,CC		0.0581,24.0127,8.1732	,	681/1149,680/1148	39306504	1063,11943	2203	4300	6503	SO:0001819	synonymous_variant	5981	exon15			CTTACTCCGGGTG	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2043G>C	4.37:g.39306504C>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	161	77	0.478261	NM_001204747	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																			C|0.922;G|0.078	0.078	strong		0.433	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		G	39306504	C	G	39306504	2	3	22	1	0	0	0	0	0	0	0	1	13244	842	30	4		4	RFC1	4	39306504	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38755	39306504	151847772	2571	7679										
UGDH	7358	hgsc.bcm.edu	37	chr4	39510264	39510264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagaacatccttttggaaAcagctcccaccaaaccctgc	5	15	1	1	rs1129052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:39510264A>G	ENST00000316423.6	-	7	1170	c.828T>C	c.(826-828)tgT>tgC	p.C276C	UGDH_ENST00000501493.2_Silent_p.C209C|UGDH_ENST00000506179.1_Silent_p.C276C|UGDH_ENST00000507089.1_Silent_p.C179C|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	276					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CCTTTTGGAAACAGCTCCCAC	0.353													G|||	1485	0.296526	0.5212	0.1657	5008	,	,		16561	0.4067		0.1044	False		,,,				2504	0.1697				p.C276C		Atlas-SNP	.											.	UGDH	52	.	0			c.T828C						PASS	.	G	,,	2031,2375	606.2+/-390.7	465,1101,637	68	72	71		627,537,828	2.5	1	4	dbSNP_86	71	850,7750	779.6+/-407.7	37,776,3487	no	coding-synonymous,coding-synonymous,coding-synonymous	UGDH	NM_001184700.1,NM_001184701.1,NM_003359.3	,,	502,1877,4124	GG,GA,AA		9.8837,46.0962,22.1513	,,	209/428,179/398,276/495	39510264	2881,10125	2203	4300	6503	SO:0001819	synonymous_variant	7358	exon7			TTGGAAACAGCTC	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.828T>C	4.37:g.39510264A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	38	24	0.631579	NM_003359	B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	CCDS3455.1																																																																																			A|0.746;G|0.254	0.254	strong		0.353	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		G	39510264	A	G	39510264	2	3	22	1	0	0	0	0	0	0	0	1	16937	41	2	2		2	UGDH	4	39510264	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	203760	39510264	151644012	2572	7680										
UGDH	7358	hgsc.bcm.edu	37	chr4	39515736	39515736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatcagcttctttgatggcAtcatcaatattggtagaaaa	8	6	4	3	rs10019532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:39515736A>G	ENST00000316423.6	-	3	573	c.231T>C	c.(229-231)gaT>gaC	p.D77D	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000501493.2_Silent_p.D77D|UGDH_ENST00000506179.1_Silent_p.D77D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	77					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTTTGATGGCATCATCAATAT	0.284													A|||	1430	0.285543	0.4826	0.1599	5008	,	,		18043	0.4067		0.1044	False		,,,				2504	0.1697				p.D77D		Atlas-SNP	.											.	UGDH	52	.	0			c.T231C						PASS	.	A	,,	1889,2511	520.4+/-370.3	407,1075,718	69	79	75		231,,231	-0.2	1	4	dbSNP_119	75	847,7739	192.3+/-238.3	37,773,3483	no	coding-synonymous,utr-5,coding-synonymous	UGDH	NM_001184700.1,NM_001184701.1,NM_003359.3	,,	444,1848,4201	GG,GA,AA		9.8649,42.9318,21.0688	,,	77/428,,77/495	39515736	2736,10250	2200	4293	6493	SO:0001819	synonymous_variant	7358	exon3			GATGGCATCATCA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.231T>C	4.37:g.39515736A>G		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	155	86	0.554839	NM_003359	B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	CCDS3455.1																																																																																			A|0.768;G|0.232	0.232	strong		0.284	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		G	39515736	A	G	39515736	2	3	22	1	0	0	0	0	0	0	0	1	16937	214	8	2		2	UGDH	4	39515736	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5472	39515736	151638540	2573	7681										
N4BP2	55728	hgsc.bcm.edu	37	chr4	40122377	40122377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaactcattcaacattatGggtgactggccttcatctga	7	9	4	2	rs78767806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:40122377G>A	ENST00000261435.6	+	9	3062	c.2646G>A	c.(2644-2646)atG>atA	p.M882I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	882					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCAACATTATGGGTGACTGGC	0.388													G|||	127	0.0253594	0.0938	0.0043	5008	,	,		21899	0.0		0.0	False		,,,				2504	0.0				p.M882I		Atlas-SNP	.											.	N4BP2	166	.	0			c.G2646A						PASS	.	G	ILE/MET	297,4109	155.5+/-188.7	7,283,1913	55	56	55		2646	3.7	0.2	4	dbSNP_131	55	3,8595	2.2+/-6.3	0,3,4296	yes	missense	N4BP2	NM_018177.4	10	7,286,6209	AA,AG,GG		0.0349,6.7408,2.307	benign	882/1771	40122377	300,12704	2203	4299	6502	SO:0001583	missense	55728	exon9			CATTATGGGTGAC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2646G>A	4.37:g.40122377G>A	ENSP00000261435:p.Met882Ile	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	240	104	0.433333	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	44|44	0.020146520146520148|0.020146520146520148	42|42	0.08536585365853659|0.08536585365853659	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	6.953|6.953	0.545704|0.545704	0.13312|0.13312	0.067408|0.067408	3.49E-4|3.49E-4	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.16073	.|2.37	5.48|5.48	3.72|3.72	0.42706|0.42706	.|.	.|0.426709	.|0.19802	.|N	.|0.105727	T|T	0.00300|0.00300	0.0009|0.0009	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.34502|0.34502	-0.9826|-0.9826	5|10	.|0.35671	.|T	.|0.21	-1.4935|-1.4935	5.7473|5.7473	0.18128|0.18128	0.1425:0.0:0.5811:0.2764|0.1425:0.0:0.5811:0.2764	.|.	.|882;882	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	R|I	529|882;802	.|ENSP00000261435:M882I	.|ENSP00000261435:M882I	G|M	+|+	1|3	0|0	N4BP2|N4BP2	39798772|39798772	0.070000|0.070000	0.21116|0.21116	0.168000|0.168000	0.22838|0.22838	0.735000|0.735000	0.41995|0.41995	0.254000|0.254000	0.18314|0.18314	0.778000|0.778000	0.33520|0.33520	0.655000|0.655000	0.94253|0.94253	GGG|ATG	G|0.975;A|0.025	0.025	strong		0.388	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		A	40122377	G	A	40122377	3	1	22	1	0	0	0	0	1	0	0	0	10110	1348	47	2	2672	2	N4BP2	4	40122377	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	606641	40122377	151031899	2574	7682										
N4BP2	55728	hgsc.bcm.edu	37	chr4	40144467	40144467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaaaaaaatgtcgccaccTtttatgcccagcaggtaaag	9	9	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:40144467T>C	ENST00000261435.6	+	15	5376	c.4960T>C	c.(4960-4962)Ttt>Ctt	p.F1654L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1654					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTCGCCACCTTTTATGCCCA	0.393																																					p.F1654L		Atlas-SNP	.											N4BP2,NS,carcinoma,0,1	N4BP2	166	1	0			c.T4960C						scavenged	.						75	75	75					4																	40144467		2203	4300	6503	SO:0001583	missense	55728	exon15			GCCACCTTTTATG	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4960T>C	4.37:g.40144467T>C	ENSP00000261435:p.Phe1654Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.0|26.0	4.691963|4.691963	0.88735|0.88735	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19105|.	2.17|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Domain of unknown function DUF1771 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70500|0.70500	0.3231|0.3231	L|L	0.59436|0.59436	1.845|1.845	0.53688|0.53688	D|D	0.999971|0.999971	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.983;0.99|.	T|T	0.69355|0.69355	-0.5167|-0.5167	10|5	0.72032|.	D|.	0.01|.	-18.3881|-18.3881	15.5702|15.5702	0.76330|0.76330	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1637;1654|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	L|P	1654;1574|1283	ENSP00000261435:F1654L|.	ENSP00000261435:F1654L|.	F|L	+|+	1|2	0|0	N4BP2|N4BP2	39820862|39820862	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.789000|0.789000	0.44602|0.44602	7.442000|7.442000	0.80503|0.80503	2.084000|2.084000	0.62774|0.62774	0.379000|0.379000	0.24179|0.24179	TTT|CTT	.	.	none		0.393	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		C	40144467	T	C	40144467	3	2	22	1	0	0	0	0	1	0	0	0	10110	1609	56	3	5010	3	N4BP2	4	40144467	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22090	40144467	151009809	2575	7683										
ATP8A1	10396	hgsc.bcm.edu	37	chr4	42457545	42457545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgtcctaaacttaccacGttatagagacctatacacca	4	11	0	1	rs61735691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:42457545G>A	ENST00000381668.5	-	28	2922	c.2691C>T	c.(2689-2691)aaC>aaT	p.N897N	ATP8A1_ENST00000264449.10_Silent_p.N882N	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	897					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AACTTACCACGTTATAGAGAC	0.388													G|||	740	0.147764	0.3903	0.098	5008	,	,		20154	0.0397		0.0457	False		,,,				2504	0.0716				p.N897N		Atlas-SNP	.											.	ATP8A1	206	.	0			c.C2691T						PASS	.	G	,	1472,2934	469.6+/-355.5	239,994,970	90	90	90		2646,2691	-6.3	0.9	4	dbSNP_129	90	377,8223	123.9+/-182.7	13,351,3936	no	coding-synonymous,coding-synonymous	ATP8A1	NM_001105529.1,NM_006095.2	,	252,1345,4906	AA,AG,GG		4.3837,33.409,14.2165	,	882/1150,897/1165	42457545	1849,11157	2203	4300	6503	SO:0001819	synonymous_variant	10396	exon28			TACCACGTTATAG	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2691C>T	4.37:g.42457545G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	186	90	0.483871	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																			G|0.866;A|0.134	0.134	strong		0.388	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		A	42457545	G	A	42457545	2	1	22	1	0	0	0	0	0	0	0	1	1192	1136	40	1		1	ATP8A1	4	42457545	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2313078	42457545	148696731	2576	7684										
ATP8A1	10396	hgsc.bcm.edu	37	chr4	42576646	42576646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaactcacccataagcaaCtcccgctatggtgcacttct	5	14	2	0	rs61755862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:42576646C>T	ENST00000381668.5	-	14	1516	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.V429I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	429					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCATAAGCAACTCCCGCTATG	0.343													C|||	126	0.0251597	0.0923	0.0058	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.0				p.V429I		Atlas-SNP	.											ATP8A1_ENST00000264449,NS,carcinoma,+1,2	ATP8A1	206	2	0			c.G1285A						PASS	.	C	ILE/VAL,ILE/VAL	297,4109	159.6+/-192.1	13,271,1919	55	56	56		1285,1285	3.4	1	4	dbSNP_129	56	2,8596	1.2+/-3.3	0,2,4297	yes	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	29,29	13,273,6216	TT,TC,CC		0.0233,6.7408,2.2993	benign,benign	429/1150,429/1165	42576646	299,12705	2203	4299	6502	SO:0001583	missense	10396	exon14			AAGCAACTCCCGC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1285G>A	4.37:g.42576646C>T	ENSP00000371084:p.Val429Ile	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	190	84	0.442105	NM_001105529	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	40	0.018315018315018316	38	0.07723577235772358	2	0.0055248618784530384	0	0.0	0	0.0	C	4.770	0.143139	0.09083	0.067408	2.33E-4	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74947	-0.89;-0.89	5.27	3.4	0.38934	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.068109	0.64402	D	0.000017	T	0.04137	0.0115	N	0.11845	0.185	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.03325	-1.1048	10	0.09338	T	0.73	.	6.9831	0.24713	0.0:0.6446:0.0:0.3554	.	429;429;429	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	I	429	ENSP00000371084:V429I;ENSP00000264449:V429I	ENSP00000264449:V429I	V	-	1	0	ATP8A1	42271403	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.657000	0.24963	1.459000	0.47892	0.591000	0.81541	GTT	C|0.975;T|0.025	0.025	strong		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		T	42576646	C	T	42576646	3	4	22	1	0	0	0	0	1	0	0	0	1192	565	20	2	2305	2	ATP8A1	4	42576646	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	119101	42576646	148577630	2577	7685										
ATP8A1	10396	hgsc.bcm.edu	37	chr4	42629038	42629038	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttattgcagaattttgtCagctggggctggttgatgaa	14	4	1	3	rs16854624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:42629038C>T	ENST00000381668.5	-	2	369	c.138G>A	c.(136-138)ctG>ctA	p.L46L	ATP8A1_ENST00000510289.1_Silent_p.L46L|ATP8A1_ENST00000264449.10_Silent_p.L46L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	46					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAATTTTGTCAGCTGGGGCT	0.438													C|||	414	0.0826677	0.1543	0.0418	5008	,	,		18233	0.0377		0.0795	False		,,,				2504	0.0644				p.L46L		Atlas-SNP	.											.	ATP8A1	206	.	0			c.G138A						PASS	.	C	,	691,3715	287.2+/-279.2	55,581,1567	112	103	106		138,138	3	1	4	dbSNP_123	106	653,7947	166.4+/-218.3	32,589,3679	no	coding-synonymous,coding-synonymous	ATP8A1	NM_001105529.1,NM_006095.2	,	87,1170,5246	TT,TC,CC		7.593,15.6832,10.3337	,	46/1150,46/1165	42629038	1344,11662	2203	4300	6503	SO:0001819	synonymous_variant	10396	exon2			TTTTGTCAGCTGG	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.138G>A	4.37:g.42629038C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	147	57	0.387755	NM_001105529	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																			C|0.910;T|0.090	0.090	strong		0.438	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		T	42629038	C	T	42629038	2	4	22	1	0	0	0	0	0	0	0	1	1192	813	29	2		2	ATP8A1	4	42629038	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52392	42629038	148525238	2578	7686										
GRXCR1	389207	hgsc.bcm.edu	37	chr4	42895308	42895308	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaaagggagatgaagccaGaaagtgacaggccacggaaa	13	6	0	4	rs78136490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:42895308G>A	ENST00000399770.2	+	1	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	9			E -> K (in dbSNP:rs78136490). {ECO:0000269|PubMed:20137778}.		auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GATGAAGCCAGAAAGTGACAG	0.517													G|||	617	0.123203	0.2307	0.0648	5008	,	,		20255	0.1567		0.0716	False		,,,				2504	0.0378				p.E9K		Atlas-SNP	.											.	GRXCR1	78	.	0			c.G25A						PASS	.	G	LYS/GLU	732,3324		67,598,1363	91	99	96		25	5	0.9	4	dbSNP_131	96	548,7810		13,522,3644	yes	missense	GRXCR1	NM_001080476.2	56	80,1120,5007	AA,AG,GG		6.5566,18.0473,10.3109	possibly-damaging	9/291	42895308	1280,11134	2028	4179	6207	SO:0001583	missense	389207	exon1			AAGCCAGAAAGTG		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.25G>A	4.37:g.42895308G>A	ENSP00000382670:p.Glu9Lys	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_001080476		Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	276	0.12637362637362637	117	0.23780487804878048	23	0.06353591160220995	80	0.13986013986013987	56	0.07387862796833773	G	11.87	1.769118	0.31320	0.180473	0.065566	ENSG00000215203	ENST00000399770	T	0.36878	1.23	5.83	4.99	0.66335	.	0.209202	0.40554	U	0.001072	T	0.00012	0.0000	L	0.50333	1.59	0.23376	P	0.99780957	B	0.26635	0.155	B	0.15870	0.014	T	0.14980	-1.0453	9	0.23302	T	0.38	-2.6283	16.1478	0.81583	0.0:0.1334:0.8666:0.0	.	9	A8MXD5	GRCR1_HUMAN	K	9	ENSP00000382670:E9K	ENSP00000382670:E9K	E	+	1	0	GRXCR1	42590065	0.995000	0.38212	0.896000	0.35187	0.018000	0.09664	5.087000	0.64480	1.451000	0.47736	0.650000	0.86243	GAA	G|0.906;A|0.094	0.094	strong		0.517	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		A	42895308	G	A	42895308	3	1	22	1	0	0	0	0	1	0	0	0	6812	943	33	2	27	2	GRXCR1	4	42895308	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	266270	42895308	148258968	2579	7687										
GABRA4	2557	hgsc.bcm.edu	37	chr4	46995387	46995387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaggaagcgcaggagggCgaaactgaccccggcggaca	16	12	0	1	rs16859837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:46995387C>T	ENST00000264318.3	-	1	1037	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	19			A -> T (in dbSNP:rs16859837).		central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CGCAGGAGGGCGAAACTGACC	0.582													C|||	59	0.0117812	0.0439	0.0014	5008	,	,		16882	0.0		0.0	False		,,,				2504	0.0				p.A19T	Ovarian(6;283 369 8234 12290 33402)	Atlas-SNP	.											.	GABRA4	129	.	0			c.G55A						PASS	.	C	THR/ALA,,	164,4242	109.9+/-148.2	5,154,2044	115	109	111		55,,	1.8	1	4	dbSNP_123	111	2,8598	1.2+/-3.3	0,2,4298	yes	missense,intron,intron	GABRA4	NM_000809.3,NM_001204266.1,NM_001204267.1	58,,	5,156,6342	TT,TC,CC		0.0233,3.7222,1.2763	benign,,	19/555,,	46995387	166,12840	2203	4300	6503	SO:0001583	missense	2557	exon1			GGAGGGCGAAACT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.55G>A	4.37:g.46995387C>T	ENSP00000264318:p.Ala19Thr	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	194	192	0.989691	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	27	0.012362637362637362	27	0.054878048780487805	0	0.0	0	0.0	0	0.0	C	15.70	2.911015	0.52439	0.037222	2.33E-4	ENSG00000109158	ENST00000264318	T	0.79845	-1.31	4.72	1.79	0.24919	.	0.494117	0.20686	N	0.087559	T	0.17789	0.0427	N	0.08118	0	0.28598	N	0.909322	B	0.06786	0.001	B	0.04013	0.001	T	0.13980	-1.0489	10	0.20519	T	0.43	.	5.9264	0.19114	0.0:0.6558:0.0:0.3442	rs16859837;rs52821342;rs16859837	19	P48169	GBRA4_HUMAN	T	19	ENSP00000264318:A19T	ENSP00000264318:A19T	A	-	1	0	GABRA4	46690144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.961000	0.40432	0.595000	0.29777	-0.237000	0.12165	GCC	C|0.984;T|0.016	0.016	strong		0.582	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46995387	C	T	46995387	3	4	22	1	0	0	0	0	1	0	0	0	6163	768	27	1	1645	1	GABRA4	4	46995387	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4100079	46995387	144158889	2580	7688										
GABRB1	2560	hgsc.bcm.edu	37	chr4	47408850	47408850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtatgcctttgtaaattaCatcttctttgggaaaggccc	9	8	2	0	rs115114447	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:47408850C>T	ENST00000295454.3	+	8	1279	c.987C>T	c.(985-987)taC>taT	p.Y329Y	GABRB1_ENST00000538619.1_Silent_p.Y259Y	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	329					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGTAAATTACATCTTCTTTG	0.423													C|||	77	0.0153754	0.056	0.0043	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0				p.Y329Y		Atlas-SNP	.											GABRB1,colon,carcinoma,+1,1	GABRB1	107	1	0			c.C987T						PASS	.	C		236,4170	138.4+/-174.2	4,228,1971	167	161	163		987	1.1	1	4	dbSNP_132	163	4,8596	1.2+/-3.3	0,4,4296	no	coding-synonymous	GABRB1	NM_000812.3		4,232,6267	TT,TC,CC		0.0465,5.3563,1.8453		329/475	47408850	240,12766	2203	4300	6503	SO:0001819	synonymous_variant	2560	exon8			AAATTACATCTTC		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.987C>T	4.37:g.47408850C>T		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	235	235	1	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	CCDS3474.1																																																																																			C|0.982;T|0.018	0.018	strong		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			T	47408850	C	T	47408850	2	4	22	1	0	0	0	0	0	0	0	1	6166	489	17	2		2	GABRB1	4	47408850	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	413463	47408850	143745426	2581	7689										
COMMD8	54951	hgsc.bcm.edu	37	chr4	47462210	47462210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctttgaaaaatttggcaAtatcttctaaaacgtgcatc	7	7	2	1	rs114141818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:47462210A>C	ENST00000381571.4	-	2	240	c.173T>G	c.(172-174)aTt>aGt	p.I58S		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	58										large_intestine(2)|lung(5)|prostate(1)	8						AAATTTGGCAATATCTTCTAA	0.353													a|||	64	0.0127796	0.0469	0.0029	5008	,	,		16655	0.0		0.0	False		,,,				2504	0.0				p.I58S		Atlas-SNP	.											.	COMMD8	15	.	0			c.T173G						PASS	.	G	SER/ILE	201,4205	126.1+/-163.2	3,195,2005	104	106	106		173	1.7	0	4	dbSNP_132	106	2,8598		0,2,4298	yes	missense	COMMD8	NM_017845.3	142	3,197,6303	CC,CA,AA		0.0233,4.562,1.5608	benign	58/184	47462210	203,12803	2203	4300	6503	SO:0001583	missense	54951	exon2			TTGGCAATATCTT	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.173T>G	4.37:g.47462210A>C	ENSP00000370984:p.Ile58Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_017845	Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	CCDS3475.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	a	1.694	-0.503300	0.04261	0.04562	2.33E-4	ENSG00000169019	ENST00000381571	T	0.11277	2.79	5.57	1.71	0.24356	.	0.431904	0.26832	N	0.022272	T	0.01189	0.0039	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28933	-1.0028	10	0.44086	T	0.13	-30.318	8.7378	0.34539	0.6292:0.0:0.3708:0.0	.	58	Q9NX08	COMD8_HUMAN	S	58	ENSP00000370984:I58S	ENSP00000370984:I58S	I	-	2	0	COMMD8	47156967	0.102000	0.21896	0.018000	0.16275	0.009000	0.06853	1.363000	0.34159	0.090000	0.17273	-0.253000	0.11424	ATT	A|0.985;C|0.015	0.015	strong		0.353	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		C	47462210	A	C	47462210	3	2	22	1	0	0	0	0	1	0	0	0	3722	101	4	5	394	5	COMMD8	4	47462210	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53360	47462210	143692066	2582	7690										
ATP10D	57205	hgsc.bcm.edu	37	chr4	47560163	47560163	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatttcaactcctacacatCctgccctttgactcagtaag	4	14	2	1	rs11729411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:47560163C>A	ENST00000273859.3	+	12	2576	c.2307C>A	c.(2305-2307)atC>atA	p.I769I	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	769					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I769I(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCTACACATCCTGCCCTTTG	0.483													C|||	1125	0.224641	0.1785	0.2925	5008	,	,		20635	0.2986		0.2127	False		,,,				2504	0.1748				p.I769I		Atlas-SNP	.											ATP10D,NS,carcinoma,0,1	ATP10D	168	1	1	Substitution - coding silent(1)	stomach(1)	c.C2307A						PASS	.	C		849,3557	334.9+/-303.7	87,675,1441	141	120	127		2307	3.2	1	4	dbSNP_120	127	1925,6675	340.3+/-323.5	217,1491,2592	no	coding-synonymous	ATP10D	NM_020453.3		304,2166,4033	AA,AC,CC		22.3837,19.2692,21.3286		769/1427	47560163	2774,10232	2203	4300	6503	SO:0001819	synonymous_variant	57205	exon12			ACACATCCTGCCC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2307C>A	4.37:g.47560163C>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	176	175	0.994318	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																			C|0.779;A|0.221	0.221	strong		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47560163	C	A	47560163	2	1	22	1	0	0	0	0	0	0	0	1	1118	845	30	4		4	ATP10D	4	47560163	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97953	47560163	143594113	2583	7691										
TXK	7294	hgsc.bcm.edu	37	chr4	48096101	48096101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcccctcttaccggctgcAttgtgctggtgataccagat	10	12	1	2	rs73151620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:48096101A>G	ENST00000264316.4	-	8	787	c.702T>C	c.(700-702)aaT>aaC	p.N234N	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	234	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TACCGGCTGCATTGTGCTGGT	0.473													A|||	174	0.0347444	0.1263	0.0101	5008	,	,		17952	0.0		0.0	False		,,,				2504	0.0				p.N234N		Atlas-SNP	.											.	TXK	58	.	0			c.T702C						PASS	.	A		544,3862	245.6+/-254.5	32,480,1691	131	130	130		702	-9.1	0.2	4	dbSNP_130	130	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	TXK	NM_003328.2		32,483,5988	GG,GA,AA		0.0349,12.3468,4.2058		234/528	48096101	547,12459	2203	4300	6503	SO:0001819	synonymous_variant	7294	exon8			GGCTGCATTGTGC	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.702T>C	4.37:g.48096101A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	92	92	1	NM_003328	Q14220	Silent	SNP	ENST00000264316.4	37	CCDS3480.1																																																																																			A|0.959;G|0.041	0.041	strong		0.473	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		G	48096101	A	G	48096101	2	3	22	1	0	0	0	0	0	0	0	1	16783	214	8	2		2	TXK	4	48096101	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	535938	48096101	143058175	2584	7692										
FRYL	285527	hgsc.bcm.edu	37	chr4	48588742	48588742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatcttgggttttctttcCcccctgaaaaatacaacagg	6	11	3	1	rs34558821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:48588742C>T	ENST00000503238.1	-	16	1643	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.G548G|FRYL_ENST00000537810.1_Silent_p.G548G|FRYL_ENST00000506685.1_Silent_p.G254G|FRYL_ENST00000358350.4_Silent_p.G548G			O94915	FRYL_HUMAN	FRY-like	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTTTTCTTTCCCCCCTGAAAA	0.368													C|||	2667	0.532548	0.6218	0.353	5008	,	,		14204	0.5288		0.4553	False		,,,				2504	0.6227				p.G548G		Atlas-SNP	.											.	FRYL	242	.	0			c.G1644A						PASS	.	C		2265,1367		715,835,266	90	85	87		1644	-3.4	1	4	dbSNP_126	87	3960,4190		984,1992,1099	no	coding-synonymous	FRYL	NM_015030.1		1699,2827,1365	TT,TC,CC		48.589,37.6377,47.1652		548/3014	48588742	6225,5557	1816	4075	5891	SO:0001819	synonymous_variant	285527	exon19			TCTTTCCCCCCTG	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1644G>A	4.37:g.48588742C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	56	0.982456	NM_015030	O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	CCDS43227.1																																																																																			C|0.516;T|0.484	0.484	strong		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			T	48588742	C	T	48588742	2	4	22	1	0	0	0	0	0	0	0	1	6064	610	22	2		2	FRYL	4	48588742	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	492641	48588742	142565534	2585	7693										
USP46	64854	hgsc.bcm.edu	37	chr4	53494283	53494283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcccggaatggacggcaGaagtacaatgcctgaagcac	11	11	1	2	rs115007179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:53494283G>A	ENST00000441222.3	-	3	349	c.165C>T	c.(163-165)ttC>ttT	p.F55F	USP46_ENST00000508499.1_Silent_p.F48F|USP46_ENST00000504078.1_5'Flank|USP46_ENST00000451218.2_Silent_p.F28F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	55	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ATGGACGGCAGAAGTACAATG	0.522													G|||	43	0.00858626	0.031	0.0029	5008	,	,		21730	0.0		0.0	False		,,,				2504	0.0				p.F55F		Atlas-SNP	.											.	USP46	38	.	0			c.C165T						PASS	.	G	,	110,3966		2,106,1930	90	85	86		144,165	5.2	1	4	dbSNP_132	86	3,8385		0,3,4191	no	coding-synonymous,coding-synonymous	USP46	NM_001134223.1,NM_022832.3	,	2,109,6121	AA,AG,GG		0.0358,2.6987,0.9066	,	48/360,55/367	53494283	113,12351	2038	4194	6232	SO:0001819	synonymous_variant	64854	exon3			ACGGCAGAAGTAC	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.165C>T	4.37:g.53494283G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	102	101	0.990196	NM_022832	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	ENST00000441222.3	37	CCDS47053.1																																																																																			G|0.997;A|0.003	0.003	strong		0.522	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		A	53494283	G	A	53494283	2	1	22	1	0	0	0	0	0	0	0	1	17074	933	33	2		2	USP46	4	53494283	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4905541	53494283	137659993	2586	7694										
SCFD2	152579	hgsc.bcm.edu	37	chr4	53740161	53740161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccaaggtctggatgcagtCggtcagttgcaaataacagc	12	9	2	0	rs149034746		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:53740161C>T	ENST00000401642.3	-	9	2163	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	SCFD2_ENST00000388940.4_Missense_Mutation_p.R632Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	677					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.R677Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGATGCAGTCGGTCAGTTGC	0.498																																					p.R677Q		Atlas-SNP	.											SCFD2,caecum,carcinoma,0,1	SCFD2	78	1	1	Substitution - Missense(1)	large_intestine(1)	c.G2030A						scavenged	.	C	GLN/ARG	0,4406		0,0,2203	133	116	122		2030	4.1	1	4	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCFD2	NM_152540.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	677/685	53740161	1,13005	2203	4300	6503	SO:0001583	missense	152579	exon9			TGCAGTCGGTCAG	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.2030G>A	4.37:g.53740161C>T	ENSP00000384182:p.Arg677Gln	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	151	3	0.0198676	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249632	0.59212	0.0	1.16E-4	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.50813	0.73;0.8	5.04	4.13	0.48395	.	0.166521	0.36002	N	0.002860	T	0.48429	0.1499	N	0.19112	0.55	0.40204	D	0.97754	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.901	T	0.48422	-0.9037	10	0.49607	T	0.09	.	9.8066	0.40797	0.0:0.7778:0.1424:0.0798	.	632;677	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	Q	677;632	ENSP00000384182:R677Q;ENSP00000373592:R632Q	ENSP00000373592:R632Q	R	-	2	0	SCFD2	53434918	0.998000	0.40836	0.999000	0.59377	0.233000	0.25261	2.157000	0.42320	2.508000	0.84585	0.655000	0.94253	CGA	C|1.000;T|0.000	0.000	weak		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		T	53740161	C	T	53740161	3	4	22	1	0	0	0	0	1	0	0	0	13890	884	31	1	28	1	SCFD2	4	53740161	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	245878	53740161	137414115	2587	7695										
KIT	3815	hgsc.bcm.edu	37	chr4	55561862	55561862	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagaatgaatggatcacGgaaaaggcagaagccaccaa	11	8	1	3	rs56411694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:55561862G>T	ENST00000288135.5	+	2	349	c.252G>T	c.(250-252)acG>acT	p.T84T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	84	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGGATCACGGAAAAGGCAG	0.443		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G|||	99	0.0197684	0.0696	0.0101	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0				p.T84T		Atlas-SNP	.	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	.	KIT	7396	.	0			c.G252T						PASS	.	G	,	273,4133	155.5+/-188.7	9,255,1939	96	89	92		252,252	-10.4	0	4	dbSNP_129	92	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	KIT	NM_000222.2,NM_001093772.1	,	9,260,6234	TT,TG,GG		0.0581,6.1961,2.1375	,	84/977,84/973	55561862	278,12728	2203	4300	6503	SO:0001819	synonymous_variant	3815	exon2	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GATCACGGAAAAG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.252G>T	4.37:g.55561862G>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																			G|0.981;T|0.019	0.019	strong		0.443	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			T	55561862	G	T	55561862	2	4	22	1	0	0	0	0	0	0	0	1	8329	1103	39	4		4	KIT	4	55561862	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1821701	55561862	135592414	2588	7696										
KDR	3791	hgsc.bcm.edu	37	chr4	55956183	55956183	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccaagccaaagtcacaGattttaaccacgttcttctc	7	13	3	1	rs145298133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:55956183G>T	ENST00000263923.4	-	23	3427	c.3132C>A	c.(3130-3132)atC>atA	p.I1044I	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1044	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGTCACAGATTTTAACCA	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G|||	3	0.000599042	0.0023	0.0	5008	,	,		18361	0.0		0.0	False		,,,				2504	0.0				p.I1044I		Atlas-SNP	.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	KDR	307	.	0			c.C3132A						PASS	.	G		10,4396	16.8+/-37.8	0,10,2193	94	93	94		3132	5.7	1	4	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	KDR	NM_002253.2		0,10,6493	TT,TG,GG		0.0,0.227,0.0769		1044/1357	55956183	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	3791	exon23			GTCACAGATTTTA	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3132C>A	4.37:g.55956183G>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	80	28	0.35	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	CCDS3497.1																																																																																			G|0.999;T|0.001	0.001	strong		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55956183	G	T	55956183	2	4	22	1	0	0	0	0	0	0	0	1	8139	932	33	4		4	KDR	4	55956183	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394321	55956183	135198093	2589	7697										
NMU	10874	hgsc.bcm.edu	37	chr4	56466734	56466734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttgcaaagggactttgGaattcttcctagaagagaaa	10	6	1	3	rs12108463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:56466734G>T	ENST00000264218.3	-	8	549	c.444C>A	c.(442-444)ttC>ttA	p.F148L	NMU_ENST00000505262.1_Missense_Mutation_p.F121L|NMU_ENST00000507338.1_Missense_Mutation_p.F123L|NMU_ENST00000511469.1_Missense_Mutation_p.F132L|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	148			F -> L (in dbSNP:rs12108463).		digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		AGGGACTTTGGAATTCTTCCT	0.299													G|||	209	0.0417332	0.1543	0.0072	5008	,	,		17523	0.0		0.0	False		,,,				2504	0.0				p.F148L		Atlas-SNP	.											.	NMU	17	.	0			c.C444A						PASS	.	G	LEU/PHE	585,3821	251.8+/-258.4	41,503,1659	54	59	57		444	-3	0.2	4	dbSNP_120	57	5,8585	3.7+/-12.6	0,5,4290	yes	missense	NMU	NM_006681.2	22	41,508,5949	TT,TG,GG		0.0582,13.2773,4.5399	benign	148/175	56466734	590,12406	2203	4295	6498	SO:0001583	missense	10874	exon8			ACTTTGGAATTCT	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.444C>A	4.37:g.56466734G>T	ENSP00000264218:p.Phe148Leu	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	213	91	0.42723	NM_006681		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	62	0.12601626016260162	2	0.0055248618784530384	0	0.0	0	0.0	G	4.096	0.015910	0.07959	0.132773	5.82E-4	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.72	-2.96	0.05547	.	0.703326	0.13471	N	0.385414	T	0.00144	0.0004	N	0.11064	0.09	0.09310	N	0.999996	B	0.09022	0.002	B	0.08055	0.003	T	0.13019	-1.0525	10	0.07813	T	0.8	-6.4377	2.1008	0.03679	0.3758:0.1231:0.3762:0.1249	rs12108463;rs52827993;rs12108463	148	P48645	NMU_HUMAN	L	132;148;121;131;123	ENSP00000422399:F132L;ENSP00000264218:F148L;ENSP00000424246:F121L;ENSP00000422870:F123L	ENSP00000264218:F148L	F	-	3	2	NMU	56161491	0.165000	0.22948	0.173000	0.22940	0.971000	0.66376	-1.188000	0.03064	-0.684000	0.05183	0.585000	0.79938	TTC	G|0.960;T|0.040	0.040	strong		0.299	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56466734	G	T	56466734	3	4	22	1	0	0	0	0	1	0	0	0	10505	1165	41	4	88	4	NMU	4	56466734	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	510551	56466734	134687542	2590	7698										
NMU	10874	hgsc.bcm.edu	37	chr4	56475330	56475330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcataaagcaaagctccTccagtgcgttggatgcctaa	8	10	1	0	rs35892915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:56475330T>C	ENST00000264218.3	-	4	341	c.236A>G	c.(235-237)gAg>gGg	p.E79G	NMU_ENST00000505262.1_Missense_Mutation_p.E79G|NMU_ENST00000507338.1_Missense_Mutation_p.E79G|NMU_ENST00000511469.1_Missense_Mutation_p.E63G|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	79			E -> G (in dbSNP:rs35892915).		digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GCAAAGCTCCTCCAGTGCGTT	0.363													T|||	114	0.0227636	0.0847	0.0029	5008	,	,		19593	0.0		0.0	False		,,,				2504	0.0				p.E79G		Atlas-SNP	.											.	NMU	17	.	0			c.A236G						PASS	.	T	GLY/GLU	312,4094	168.0+/-198.9	9,294,1900	111	111	111		236	1.7	0.9	4	dbSNP_126	111	5,8595	3.0+/-9.4	0,5,4295	yes	missense	NMU	NM_006681.2	98	9,299,6195	CC,CT,TT		0.0581,7.0813,2.4373	possibly-damaging	79/175	56475330	317,12689	2203	4300	6503	SO:0001583	missense	10874	exon4			AGCTCCTCCAGTG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.236A>G	4.37:g.56475330T>C	ENSP00000264218:p.Glu79Gly	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_006681		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	32	0.014652014652014652	31	0.06300813008130081	1	0.0027624309392265192	0	0.0	0	0.0	T	13.36	2.215110	0.39102	0.070813	5.81E-4	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.51574	0.7;0.7;1.31;0.7	5.51	1.72	0.24424	.	0.342720	0.28778	N	0.014164	T	0.04363	0.0120	M	0.65498	2.005	0.34244	D	0.67794	P	0.38922	0.651	B	0.35859	0.212	T	0.26538	-1.0100	10	0.66056	D	0.02	-11.2	8.6898	0.34260	0.0:0.2134:0.0:0.7866	rs35892915	79	P48645	NMU_HUMAN	G	63;79;79;79;79	ENSP00000422399:E63G;ENSP00000264218:E79G;ENSP00000424246:E79G;ENSP00000422870:E79G	ENSP00000264218:E79G	E	-	2	0	NMU	56170087	1.000000	0.71417	0.873000	0.34254	0.350000	0.29205	2.040000	0.41203	0.073000	0.16731	0.533000	0.62120	GAG	T|0.978;C|0.022	0.022	strong		0.363	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			C	56475330	T	C	56475330	3	2	22	1	0	0	0	0	1	0	0	0	10505	1551	54	3	312	3	NMU	4	56475330	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8596	56475330	134678946	2591	7699										
CEP135	9662	hgsc.bcm.edu	37	chr4	56837458	56837458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaacttatgccagaaagAaaaggagagactgagtgatg	12	4	0	6	rs141602415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:56837458A>G	ENST00000257287.4	+	10	1257	c.1133A>G	c.(1132-1134)gAa>gGa	p.E378G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	378					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGCCAGAAAGAAAAGGAGAGA	0.294													A|||	4	0.000798722	0.003	0.0	5008	,	,		15338	0.0		0.0	False		,,,				2504	0.0				p.E378G		Atlas-SNP	.											CEP135,NS,carcinoma,+1,1	CEP135	115	1	0			c.A1133G						PASS	.	A	GLY/GLU	25,4381	26.2+/-53.5	0,25,2178	42	43	43		1133	6	1	4	dbSNP_134	43	0,8600		0,0,4300	yes	missense	CEP135	NM_025009.3	98	0,25,6478	GG,GA,AA		0.0,0.5674,0.1922	probably-damaging	378/1141	56837458	25,12981	2203	4300	6503	SO:0001583	missense	9662	exon10			AGAAAGAAAAGGA	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1133A>G	4.37:g.56837458A>G	ENSP00000257287:p.Glu378Gly	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	25.9	4.681724	0.88542	0.005674	0.0	ENSG00000174799	ENST00000257287	T	0.53640	0.61	6.04	6.04	0.98038	.	0.091491	0.64402	D	0.000001	T	0.56920	0.2018	M	0.63428	1.95	0.42620	D	0.993343	D	0.69078	0.997	P	0.62885	0.908	T	0.63404	-0.6645	10	0.52906	T	0.07	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	378	Q66GS9	CP135_HUMAN	G	378	ENSP00000257287:E378G	ENSP00000257287:E378G	E	+	2	0	CEP135	56532215	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.387000	0.73191	2.317000	0.78254	0.459000	0.35465	GAA	A|0.998;G|0.002	0.002	strong		0.294	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		G	56837458	A	G	56837458	3	3	22	1	0	0	0	0	1	0	0	0	3247	246	9	2	1167	2	CEP135	4	56837458	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	362128	56837458	134316818	2592	7700										
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57180546	57180546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcgggaagagcagcagcGgagcctggaagcgccaggtt	18	11	0	1	rs145781098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57180546G>A	ENST00000504228.1	+	6	983	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R293Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R286Q			Q6ZU35	K1211_HUMAN	KIAA1211	293	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGCAGCAGCGGAGCCTGGAA	0.697													G|||	27	0.00539137	0.0197	0.0014	5008	,	,		13712	0.0		0.0	False		,,,				2504	0.0				p.R293Q		Atlas-SNP	.											.	KIAA1211	178	.	0			c.G878A						PASS	.	G	GLN/ARG	46,3696		0,46,1825	5	8	7		878	-2.7	0	4	dbSNP_134	7	6,7630		0,6,3812	no	missense	KIAA1211	NM_020722.1	43	0,52,5637	AA,AG,GG		0.0786,1.2293,0.457	benign	293/1234	57180546	52,11326	1871	3818	5689	SO:0001583	missense	57482	exon8			AGCAGCGGAGCCT	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.878G>A	4.37:g.57180546G>A	ENSP00000423366:p.Arg293Gln	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	49	24	0.489796	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	12.98	2.100302	0.37048	0.012293	7.86E-4	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14391	2.51;2.51;2.52	4.88	-2.66	0.06077	.	.	.	.	.	T	0.00815	0.0027	N	0.00246	-1.78	0.09310	N	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.11329	0.006;0.003;0.003	T	0.44159	-0.9346	9	0.11485	T	0.65	-0.6858	6.6117	0.22755	0.3545:0.2188:0.4268:0.0	.	286;286;293	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	293;293;286;203	ENSP00000264229:R293Q;ENSP00000423366:R293Q;ENSP00000444006:R286Q	ENSP00000264229:R293Q	R	+	2	0	KIAA1211	56875303	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.656000	0.05342	-0.778000	0.04566	0.462000	0.41574	CGG	G|0.994;A|0.006	0.006	strong		0.697	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57180546	G	A	57180546	3	1	22	1	0	0	0	0	1	0	0	0	8215	1116	39	1	896	1	KIAA1211	4	57180546	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	343088	57180546	133973730	2593	7701										
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57180563	57180563	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggagcctggaagcgccaGgttgggaggacgcggagcgg	21	9	0	0	rs59615456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57180563G>C	ENST00000504228.1	+	6	1000	c.895G>C	c.(895-897)Ggt>Cgt	p.G299R	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G299R|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G292R			Q6ZU35	K1211_HUMAN	KIAA1211	299	Glu-rich.			G -> R (in Ref. 2; BAC86392). {ECO:0000305}.						endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCGCCAGGTTGGGAGGA	0.716													G|||	1138	0.227236	0.1505	0.2262	5008	,	,		13699	0.2589		0.3429	False		,,,				2504	0.18				p.G299R		Atlas-SNP	.											.	KIAA1211	178	.	0			c.G895C						PASS	.	G	ARG/GLY	622,3124		63,496,1314	5	7	7		895	0	0	4	dbSNP_129	7	2434,5116		429,1576,1770	no	missense	KIAA1211	NM_020722.1	125	492,2072,3084	CC,CG,GG		32.2384,16.6044,27.0538	benign	299/1234	57180563	3056,8240	1873	3775	5648	SO:0001583	missense	57482	exon8			GCGCCAGGTTGGG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.895G>C	4.37:g.57180563G>C	ENSP00000423366:p.Gly299Arg	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	571	0.26144688644688646	75	0.1524390243902439	91	0.2513812154696133	148	0.25874125874125875	257	0.3390501319261214	G	7.864	0.726788	0.15439	0.166044	0.322384	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11063	2.82;2.82;2.81	4.58	0.0276	0.14155	.	.	.	.	.	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.42732	-0.9434	8	0.36615	T	0.2	-0.8935	3.6126	0.08066	0.4628:0.2149:0.3223:0.0	rs59615456;rs62310634	292;299	F5H1N7;Q6ZU35	.;K1211_HUMAN	R	299;299;292;209	ENSP00000264229:G299R;ENSP00000423366:G299R;ENSP00000444006:G292R	ENSP00000264229:G299R	G	+	1	0	KIAA1211	56875320	0.003000	0.15002	0.000000	0.03702	0.029000	0.11900	1.610000	0.36869	0.107000	0.17824	0.462000	0.41574	GGT	G|0.738;C|0.262	0.262	strong		0.716	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		C	57180563	G	C	57180563	3	2	22	1	0	0	0	0	1	0	0	0	8215	1000	35	4	913	4	KIAA1211	4	57180563	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17	57180563	133973713	2594	7702										
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57181629	57181629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagcgggaaggctaagcCccgccaggagtctcccagca	15	14	1	0	rs61750793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57181629C>T	ENST00000504228.1	+	6	2066	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P654L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P647L			Q6ZU35	K1211_HUMAN	KIAA1211	654				P -> L (in Ref. 2; BAC86392). {ECO:0000305}.						endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCTAAGCCCCGCCAGGAG	0.682													C|||	1008	0.201278	0.1415	0.196	5008	,	,		13963	0.254		0.2823	False		,,,				2504	0.1483				p.P654L		Atlas-SNP	.											.	KIAA1211	178	.	0			c.C1961T						PASS	.	C	LEU/PRO	5,3863		0,5,1929	18	22	21		1961	-0.8	0	4	dbSNP_129	21	45,8165		5,35,4065	no	missense	KIAA1211	NM_020722.1	98	5,40,5994	TT,TC,CC		0.5481,0.1293,0.414	benign	654/1234	57181629	50,12028	1934	4105	6039	SO:0001583	missense	57482	exon8			CTAAGCCCCGCCA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1961C>T	4.37:g.57181629C>T	ENSP00000423366:p.Pro654Leu	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	45	28	0.622222	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	496	0.2271062271062271	72	0.14634146341463414	76	0.20994475138121546	140	0.24475524475524477	208	0.27440633245382584	C	3.586	-0.084625	0.07097	0.001293	0.005481	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.01745	4.66;4.66;4.66	4.38	-0.764	0.11027	.	.	.	.	.	T	0.00012	0.0000	L	0.38531	1.155	0.50632	P	1.1600000000000499E-4	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.41070	-0.9529	8	0.11794	T	0.64	-4.4597	4.0737	0.09894	0.407:0.2333:0.0:0.3598	rs61750793	647;654	F5H1N7;Q6ZU35	.;K1211_HUMAN	L	654;654;647;564	ENSP00000264229:P654L;ENSP00000423366:P654L;ENSP00000444006:P647L	ENSP00000264229:P654L	P	+	2	0	KIAA1211	56876386	0.013000	0.17824	0.016000	0.15963	0.002000	0.02628	0.689000	0.25437	-0.084000	0.12595	-1.008000	0.02478	CCC	C|0.760;T|0.240	0.240	strong		0.682	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57181629	C	T	57181629	3	4	22	1	0	0	0	0	1	0	0	0	8215	623	22	2	1979	2	KIAA1211	4	57181629	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1066	57181629	133972647	2595	7703										
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57181995	57181995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggaagggtccggagaagtCggagatgcaccgggagcccg	19	10	0	2	rs3796547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57181995C>T	ENST00000504228.1	+	6	2432	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S776L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S769L			Q6ZU35	K1211_HUMAN	KIAA1211	776			S -> L (in dbSNP:rs3796547). {ECO:0000269|PubMed:14702039}.					p.S776L(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGGAGAAGTCGGAGATGCAC	0.597													C|||	1212	0.242013	0.1997	0.2334	5008	,	,		14559	0.254		0.34	False		,,,				2504	0.1922				p.S776L		Atlas-SNP	.											KIAA1211,NS,carcinoma,0,1	KIAA1211	178	1	1	Substitution - Missense(1)	stomach(1)	c.C2327T						PASS	.	C	LEU/SER	878,3072		96,686,1193	62	76	72		2327	-5.8	0	4	dbSNP_107	72	2849,5455		497,1855,1800	yes	missense	KIAA1211	NM_020722.1	145	593,2541,2993	TT,TC,CC		34.3088,22.2278,30.4146	benign	776/1234	57181995	3727,8527	1975	4152	6127	SO:0001583	missense	57482	exon8			AGAAGTCGGAGAT	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2327C>T	4.37:g.57181995C>T	ENSP00000423366:p.Ser776Leu	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	575	0.2632783882783883	84	0.17073170731707318	92	0.2541436464088398	144	0.2517482517482518	255	0.33641160949868076	C	10.70	1.425095	0.25639	0.222278	0.343088	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.10668	2.85;2.85;2.85	4.79	-5.82	0.02333	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.20887	0.049;0.049	B;B	0.12156	0.007;0.007	T	0.48670	-0.9015	8	0.10111	T	0.7	0.6006	10.3039	0.43670	0.0975:0.5901:0.0:0.3124	rs3796547;rs17490484;rs58264499;rs3796547	769;776	F5H1N7;Q6ZU35	.;K1211_HUMAN	L	776;776;769;686	ENSP00000264229:S776L;ENSP00000423366:S776L;ENSP00000444006:S769L	ENSP00000264229:S776L	S	+	2	0	KIAA1211	56876752	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.293000	0.08320	-1.173000	0.02758	-0.367000	0.07326	TCG	C|0.728;T|0.272	0.272	strong		0.597	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57181995	C	T	57181995	3	4	22	1	0	0	0	0	1	0	0	0	8215	893	31	1	2345	1	KIAA1211	4	57181995	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	366	57181995	133972281	2596	7704										
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57182758	57182758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagggacagaagagggaCgaggaggaagaggcgacaga	20	4	0	4	rs28559894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57182758C>T	ENST00000504228.1	+	6	3195	c.3090C>T	c.(3088-3090)gaC>gaT	p.D1030D	KIAA1211_ENST00000264229.6_Silent_p.D1030D|KIAA1211_ENST00000541073.1_Silent_p.D1023D			Q6ZU35	K1211_HUMAN	KIAA1211	1030										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAAGAGGGACGAGGAGGAAG	0.627													C|||	1128	0.22524	0.1407	0.2233	5008	,	,		12589	0.254		0.341	False		,,,				2504	0.1922				p.D1030D		Atlas-SNP	.											KIAA1211,NS,carcinoma,0,1	KIAA1211	178	1	0			c.C3090T						PASS	.	C		672,3328		52,568,1380	18	21	20		3090	-6.2	0	4	dbSNP_125	20	2858,5480		498,1862,1809	no	coding-synonymous	KIAA1211	NM_020722.1		550,2430,3189	TT,TC,CC		34.2768,16.8,28.6108		1030/1234	57182758	3530,8808	2000	4169	6169	SO:0001819	synonymous_variant	57482	exon8			GAGGGACGAGGAG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3090C>T	4.37:g.57182758C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	39	22	0.564103	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																			C|0.728;T|0.272	0.272	strong		0.627	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57182758	C	T	57182758	2	4	22	1	0	0	0	0	0	0	0	1	8215	535	19	1		1	KIAA1211	4	57182758	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	763	57182758	133971518	2597	7705										
PPAT	5471	hgsc.bcm.edu	37	chr4	57268328	57268328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagacaccacccatccttcTgtttctgatgtttttttctc	5	12	3	2	rs2271924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57268328T>C	ENST00000264220.2	-	6	818	c.681A>G	c.(679-681)acA>acG	p.T227T	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	227	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CCCATCCTTCTGTTTCTGATG	0.318													T|||	629	0.125599	0.1067	0.0634	5008	,	,		15735	0.2381		0.0974	False		,,,				2504	0.1084				p.T227T		Atlas-SNP	.											.	PPAT	41	.	0			c.A681G						PASS	.	T		406,4000	201.1+/-224.2	21,364,1818	101	103	102		681	-10.7	0.4	4	dbSNP_100	102	633,7961	163.0+/-215.7	28,577,3692	no	coding-synonymous	PPAT	NM_002703.4		49,941,5510	CC,CT,TT		7.3656,9.2147,7.9923		227/518	57268328	1039,11961	2203	4297	6500	SO:0001819	synonymous_variant	5471	exon6			TCCTTCTGTTTCT		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.681A>G	4.37:g.57268328T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	88	51	0.579545	NM_002703		Silent	SNP	ENST00000264220.2	37	CCDS3505.1																																																																																			T|0.907;C|0.093	0.093	strong		0.318	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		C	57268328	T	C	57268328	2	2	22	1	0	0	0	0	0	0	0	1	12302	1567	55	3		3	PPAT	4	57268328	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85570	57268328	133885948	2598	7706										
SRP72	6731	hgsc.bcm.edu	37	chr4	57361553	57361553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaaaaagaagaaaaagaaAaagaagggtaaggcattaaa	10	1	0	5	rs34419325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57361553A>G	ENST00000342756.5	+	17	2392	c.1671A>G	c.(1669-1671)aaA>aaG	p.K557K	SRP72_ENST00000510663.1_Silent_p.K496K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	557	Poly-Lys.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAAGAAAAAGAAGGGTA	0.269													A|||	583	0.116414	0.0598	0.0576	5008	,	,		15029	0.251		0.0954	False		,,,				2504	0.1176				p.K557K		Atlas-SNP	.											.	SRP72	59	.	0			c.A1671G						PASS	.	A		234,4076		6,222,1927	25	26	25		1671	4.7	1	4	dbSNP_126	25	597,7929		27,543,3693	no	coding-synonymous	SRP72	NM_006947.3		33,765,5620	GG,GA,AA		7.0021,5.4292,6.474		557/672	57361553	831,12005	2155	4263	6418	SO:0001819	synonymous_variant	6731	exon17			AAAGAAAAAGAAG	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1671A>G	4.37:g.57361553A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	215	121	0.562791	NM_006947	G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	CCDS3506.1																																																																																			A|0.915;G|0.085	0.085	strong		0.269	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			G	57361553	A	G	57361553	2	3	22	1	0	0	0	0	0	0	0	1	15156	11	1	2		2	SRP72	4	57361553	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93225	57361553	133792723	2599	7707										
REST	5978	hgsc.bcm.edu	37	chr4	57797414	57797414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcctgctcagagggagcCacctcctcccagagagcctc	12	16	1	2	rs3796529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57797414C>T	ENST00000309042.7	+	4	2704	c.2390C>T	c.(2389-2391)cCa>cTa	p.P797L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	797	Pro-rich.		P -> L (in dbSNP:rs3796529). {ECO:0000269|PubMed:8568247}.		cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P797L(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAGGGAGCCACCTCCTCCC	0.532													C|||	1306	0.260783	0.2738	0.2248	5008	,	,		18741	0.377		0.1849	False		,,,				2504	0.227				p.P797L		Atlas-SNP	.											REST,NS,carcinoma,0,1	REST	104	1	2	Substitution - Missense(2)	prostate(2)	c.C2390T						PASS	.	C	LEU/PRO,LEU/PRO	1121,3285	398.3+/-330.8	125,871,1207	108	120	116		2390,2390	0.4	0	4	dbSNP_107	116	1636,6964	302.2+/-305.8	141,1354,2805	yes	missense,missense	REST	NM_001193508.1,NM_005612.4	98,98	266,2225,4012	TT,TC,CC		19.0233,25.4426,21.1979	probably-damaging,probably-damaging	797/1098,797/1098	57797414	2757,10249	2203	4300	6503	SO:0001583	missense	5978	exon4			GGGAGCCACCTCC	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2390C>T	4.37:g.57797414C>T	ENSP00000311816:p.Pro797Leu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	119	54	0.453782	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	544	0.2490842490842491	123	0.25	71	0.19613259668508287	208	0.36363636363636365	142	0.18733509234828497	C	12.13	1.845760	0.32606	0.254426	0.190233	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06218	3.33	3.08	0.384	0.16244	.	1.097820	0.07026	N	0.827581	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.001	T	0.48007	-0.9072	9	0.42905	T	0.14	-0.8172	5.4341	0.16472	0.0:0.6053:0.0:0.3947	rs3796529;rs57306785;rs3796529	774;797	F8WAN5;Q13127	.;REST_HUMAN	L	797;774	ENSP00000311816:P797L	ENSP00000311816:P797L	P	+	2	0	REST	57492171	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.057000	0.03486	0.027000	0.15297	-0.192000	0.12808	CCA	C|0.784;T|0.216	0.216	strong		0.532	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		T	57797414	C	T	57797414	3	4	22	1	0	0	0	0	1	0	0	0	13234	594	21	2	2400	2	REST	4	57797414	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	435861	57797414	133356862	2600	7708										
REST	5978	hgsc.bcm.edu	37	chr4	57798189	57798189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagccttggcagtcaaagcGgctaagggagattttgtttg	14	6	1	1	rs2227901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:57798189G>A	ENST00000309042.7	+	4	3479	c.3165G>A	c.(3163-3165)gcG>gcA	p.A1055A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1055	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGTCAAAGCGGCTAAGGGAG	0.433													G|||	1270	0.253594	0.2595	0.2161	5008	,	,		20278	0.3661		0.1849	False		,,,				2504	0.227				p.A1055A		Atlas-SNP	.											.	REST	104	.	0			c.G3165A						PASS	.	G	,	1041,3365	384.9+/-325.5	111,819,1273	80	77	78		3165,3165	1.1	0	4	dbSNP_98	78	1641,6959	303.6+/-306.5	143,1355,2802	no	coding-synonymous,coding-synonymous	REST	NM_001193508.1,NM_005612.4	,	254,2174,4075	AA,AG,GG		19.0814,23.6269,20.6213	,	1055/1098,1055/1098	57798189	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	5978	exon4			CAAAGCGGCTAAG	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3165G>A	4.37:g.57798189G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	145	67	0.462069	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	CCDS3509.1																																																																																			G|0.791;A|0.209	0.209	strong		0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		A	57798189	G	A	57798189	2	1	22	1	0	0	0	0	0	0	0	1	13234	1103	39	1		1	REST	4	57798189	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	775	57798189	133356087	2601	7709										
LPHN3	23284	hgsc.bcm.edu	37	chr4	62800728	62800728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgacattgtcagggagaaTacagacaatattagtaagtg	10	5	1	3	rs734644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:62800728T>C	ENST00000514591.1	+	13	2408	c.2079T>C	c.(2077-2079)aaT>aaC	p.N693N	LPHN3_ENST00000506720.1_Silent_p.N761N|LPHN3_ENST00000507625.1_Silent_p.N761N|LPHN3_ENST00000514157.1_Silent_p.N693N|LPHN3_ENST00000512091.2_Silent_p.N693N|LPHN3_ENST00000509896.1_Silent_p.N761N|LPHN3_ENST00000506700.1_Silent_p.N693N|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Silent_p.N693N|LPHN3_ENST00000506746.1_Silent_p.N761N|LPHN3_ENST00000508946.1_Silent_p.N693N|LPHN3_ENST00000507164.1_Silent_p.N761N|LPHN3_ENST00000508693.1_Silent_p.N761N|LPHN3_ENST00000545650.1_Silent_p.N693N|LPHN3_ENST00000514996.1_Silent_p.N693N|LPHN3_ENST00000511324.1_Silent_p.N761N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	680					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAGGGAGAATACAGACAATA	0.428													C|||	3405	0.679912	0.7988	0.6153	5008	,	,		19917	0.5933		0.7276	False		,,,				2504	0.6053				p.N693N		Atlas-SNP	.											.	LPHN3	800	.	0			c.T2079C						PASS	.	C		3133,799		1248,637,81	94	93	93		2079	4.7	1	4	dbSNP_86	93	6240,2080		2330,1580,250	no	coding-synonymous	LPHN3	NM_015236.4		3578,2217,331	CC,CT,TT		25.0,20.3204,23.4982		693/1470	62800728	9373,2879	1966	4160	6126	SO:0001819	synonymous_variant	23284	exon11			GGAGAATACAGAC	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2079T>C	4.37:g.62800728T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	132	131	0.992424	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	1500	0.6868131868131868	401	0.8150406504065041	227	0.6270718232044199	325	0.5681818181818182	547	0.7216358839050132	C	4.530	0.098427	0.08681	0.796796	0.75	ENSG00000150471	ENST00000502815	.	.	.	5.54	4.69	0.59074	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999954	.	.	.	.	.	.	T	0.17961	-1.0352	3	.	.	.	.	9.924	0.41481	0.0:0.7807:0.0:0.2193	rs734644;rs17226328;rs61382511;rs734644	.	.	.	H	151	.	.	Y	+	1	0	LPHN3	62483323	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.626000	0.37039	0.895000	0.36342	-0.128000	0.14901	TAC	T|0.303;C|0.697	0.697	strong		0.428	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			C	62800728	T	C	62800728	2	2	22	1	0	0	0	0	0	0	0	1	8917	1403	49	2		2	LPHN3	4	62800728	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5002539	62800728	128353548	2602	7710										
UBA6	55236	hgsc.bcm.edu	37	chr4	68500171	68500171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttgcccactgtatggtAtgttcaatagcagctggaaa	9	9	2	0	rs10008910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:68500171A>G	ENST00000322244.5	-	21	1967	c.1908T>C	c.(1906-1908)caT>caC	p.H636H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	636					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTGTATGGTATGTTCAATAG	0.333													A|||	783	0.15635	0.1581	0.1182	5008	,	,		15380	0.1052		0.165	False		,,,				2504	0.2249				p.H636H		Atlas-SNP	.											.	UBA6	98	.	0			c.T1908C						PASS	.	A		748,3656	282.8+/-276.7	73,602,1527	65	73	70		1908	0.7	1	4	dbSNP_119	70	1202,7394	238.5+/-269.9	80,1042,3176	no	coding-synonymous	UBA6	NM_018227.5		153,1644,4703	GG,GA,AA		13.9832,16.9846,15.0		636/1053	68500171	1950,11050	2202	4298	6500	SO:0001819	synonymous_variant	55236	exon21			TATGGTATGTTCA	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1908T>C	4.37:g.68500171A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	37	31	0.837838	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	CCDS3516.1	325	0.1488095238095238	77	0.1565040650406504	48	0.13259668508287292	72	0.1258741258741259	128	0.16886543535620052	A	8.494	0.862714	0.17178	0.169846	0.139832	ENSG00000033178	ENST00000505673	.	.	.	5.79	0.723	0.18231	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.10451	-1.0629	3	.	.	.	-16.826	9.1465	0.36937	0.7147:0.0:0.2853:0.0	rs10008910	.	.	.	T	170	.	.	I	-	2	0	UBA6	68182766	0.996000	0.38824	0.998000	0.56505	0.920000	0.55202	0.482000	0.22276	-0.075000	0.12798	0.482000	0.46254	ATA	A|0.851;G|0.149	0.149	strong		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		G	68500171	A	G	68500171	2	3	22	1	0	0	0	0	0	0	0	1	16829	446	16	2		2	UBA6	4	68500171	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5699443	68500171	122654105	2603	7711										
UBA6	55236	hgsc.bcm.edu	37	chr4	68534392	68534392	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaacaatgccaggatttgCctaaaaataagagtaatcta	7	6	1	1	rs10010188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:68534392C>T	ENST00000322244.5	-	9	729	c.670G>A	c.(670-672)Gca>Aca	p.A224T	UBA6_ENST00000420827.2_Splice_Site_p.A224T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	224			A -> T (in dbSNP:rs10010188). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17597759, ECO:0000269|PubMed:17974005}.		protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGGATTTGCCTAAAAATAA	0.299													C|||	776	0.154952	0.1536	0.1167	5008	,	,		17296	0.1052		0.165	False		,,,				2504	0.2249				p.A224T		Atlas-SNP	.											UBA6,colon,carcinoma,+1,1	UBA6	98	1	0			c.G670A						PASS	.	C	THR/ALA	736,3670	296.7+/-284.4	70,596,1537	80	77	78		670	4.7	1	4	dbSNP_119	78	1203,7395	240.4+/-271.1	79,1045,3175	yes	missense-near-splice	UBA6	NM_018227.5	58	149,1641,4712	TT,TC,CC		13.9916,16.7045,14.9108	benign	224/1053	68534392	1939,11065	2203	4299	6502	SO:0001630	splice_region_variant	55236	exon9			GATTTGCCTAAAA	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.670-1G>A	4.37:g.68534392C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	341	0.15613553113553114	83	0.16869918699186992	49	0.13535911602209943	76	0.13286713286713286	133	0.17546174142480211	C	14.72	2.619904	0.46736	0.167045	0.139916	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.29397	1.57;1.57	5.54	4.69	0.59074	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.408988	0.27298	N	0.020013	T	0.00073	0.0002	L	0.46614	1.455	0.29936	P	0.821452	P;P;P	0.40602	0.723;0.723;0.536	B;B;B	0.37144	0.242;0.16;0.079	T	0.09487	-1.0672	9	0.54805	T	0.06	-9.4738	12.6904	0.56972	0.443:0.557:0.0:0.0	rs10010188;rs17571482;rs61257058;rs10010188	224;224;224	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	T	224	ENSP00000313454:A224T;ENSP00000399234:A224T	ENSP00000313454:A224T	A	-	1	0	UBA6	68216987	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.201000	0.42734	1.328000	0.45358	0.655000	0.94253	GCA	C|0.849;T|0.151	0.151	strong		0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	Missense_Mutation	T	68534392	C	T	68534392	5	4	22	1	0	0	0	0	0	0	1	0	16829	753	26	2	2588	2	UBA6	4	68534392	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34221	68534392	122619884	2604	7712										
GNRHR	2798	hgsc.bcm.edu	37	chr4	68619601	68619601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgtccgactttgctgttGcttttcaaagctaggggcct	11	10	1	0	rs4986942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:68619601G>A	ENST00000226413.4	-	1	477	c.453C>T	c.(451-453)agC>agT	p.S151S	UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.S151S	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	151					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTTTGCTGTTGCTTTTCAAAG	0.498													G|||	333	0.0664936	0.087	0.0908	5008	,	,		19267	0.0069		0.0815	False		,,,				2504	0.0675				p.S151S		Atlas-SNP	.											.	GNRHR	31	.	0			c.C453T						PASS	.	G	,	466,3940	221.7+/-238.7	27,412,1764	64	62	62		453,453	5.3	0.2	4	dbSNP_118	62	853,7747	194.4+/-239.8	40,773,3487	no	coding-synonymous,coding-synonymous	GNRHR	NM_000406.2,NM_001012763.1	,	67,1185,5251	AA,AG,GG		9.9186,10.5765,10.1415	,	151/329,151/250	68619601	1319,11687	2203	4300	6503	SO:0001819	synonymous_variant	2798	exon1			GCTGTTGCTTTTC		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.453C>T	4.37:g.68619601G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	164	64	0.390244	NM_000406	O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	CCDS3517.1																																																																																			G|0.914;A|0.086	0.086	strong		0.498	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			A	68619601	G	A	68619601	2	1	22	1	0	0	0	0	0	0	0	1	6549	1310	46	2		2	GNRHR	4	68619601	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85209	68619601	122534675	2605	7713										
TMPRSS11F	389208	hgsc.bcm.edu	37	chr4	68934515	68934515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggtaatggcatgtttgaAgatgtcatccttattccaca	9	8	1	2	rs35687346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:68934515A>G	ENST00000356291.2	-	7	635	c.576T>C	c.(574-576)tcT>tcC	p.S192S	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	192						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCATGTTTGAAGATGTCATCC	0.423													A|||	232	0.0463259	0.1619	0.0216	5008	,	,		21406	0.0		0.003	False		,,,				2504	0.0				p.S192S		Atlas-SNP	.											.	TMPRSS11F	79	.	0			c.T576C						PASS	.	A		551,3855	245.3+/-254.3	37,477,1689	88	83	85		576	-1.1	1	4	dbSNP_126	85	39,8561	25.1+/-72.6	0,39,4261	no	coding-synonymous	TMPRSS11F	NM_207407.2		37,516,5950	GG,GA,AA		0.4535,12.5057,4.5364		192/439	68934515	590,12416	2203	4300	6503	SO:0001819	synonymous_variant	389208	exon7			GTTTGAAGATGTC	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.576T>C	4.37:g.68934515A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	132	61	0.462121	NM_207407	A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																			A|0.955;G|0.045	0.045	strong		0.423	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		G	68934515	A	G	68934515	2	3	22	1	0	0	0	0	0	0	0	1	16240	59	3	3		3	TMPRSS11F	4	68934515	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	314914	68934515	122219761	2606	7714										
TMPRSS11F	389208	hgsc.bcm.edu	37	chr4	68938185	68938185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgagcactataagaatatCcacaccttgttcatctggac	6	10	2	2	rs1438391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:68938185C>T	ENST00000356291.2	-	5	429	c.370G>A	c.(370-372)Gat>Aat	p.D124N	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	124	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.		D -> N (in dbSNP:rs1438391).			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATAAGAATATCCACACCTTGT	0.303													C|||	190	0.0379393	0.1301	0.0216	5008	,	,		12334	0.0		0.003	False		,,,				2504	0.0				p.D124N		Atlas-SNP	.											.	TMPRSS11F	79	.	0			c.G370A						PASS	.	C	ASN/ASP	471,3935	220.0+/-237.6	24,423,1756	89	89	89		370	3.6	0	4	dbSNP_88	89	35,8565	22.8+/-68.1	0,35,4265	yes	missense	TMPRSS11F	NM_207407.2	23	24,458,6021	TT,TC,CC		0.407,10.69,3.8905	benign	124/439	68938185	506,12500	2203	4300	6503	SO:0001583	missense	389208	exon5			GAATATCCACACC	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.370G>A	4.37:g.68938185C>T	ENSP00000348639:p.Asp124Asn	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	58	28	0.482759	NM_207407	A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	70	0.03205128205128205	61	0.12398373983739837	9	0.024861878453038673	0	0.0	0	0.0	C	1.216	-0.628370	0.03610	0.1069	0.00407	ENSG00000198092	ENST00000356291	T	0.37235	1.21	6.07	3.63	0.41609	SEA (3);	0.702903	0.13299	N	0.398399	T	0.00144	0.0004	N	0.01048	-1.04	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	9	0.12103	T	0.63	.	5.8211	0.18528	0.0:0.0872:0.1681:0.7447	rs1438391;rs1438391	124	Q6ZWK6	TM11F_HUMAN	N	124	ENSP00000348639:D124N	ENSP00000348639:D124N	D	-	1	0	TMPRSS11F	68620780	0.556000	0.26538	0.016000	0.15963	0.005000	0.04900	1.049000	0.30392	0.514000	0.28300	-0.302000	0.09304	GAT	C|0.960;T|0.040	0.040	strong		0.303	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		T	68938185	C	T	68938185	3	4	22	1	0	0	0	0	1	0	0	0	16240	855	30	2	970	2	TMPRSS11F	4	68938185	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3670	68938185	122216091	2607	7715										
TMPRSS11B	132724	hgsc.bcm.edu	37	chr4	69094472	69094472	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacatacctgacatgcatcAgcttctcctgacataaatcc	5	13	2	3	rs34044450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:69094472A>T	ENST00000332644.5	-	9	1238	c.1077T>A	c.(1075-1077)gcT>gcA	p.A359A		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	359	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A359A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GACATGCATCAGCTTCTCCTG	0.323													A|||	48	0.00958466	0.0356	0.0014	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.0				p.A359A		Atlas-SNP	.											TMPRSS11B,NS,carcinoma,0,1	TMPRSS11B	66	1	1	Substitution - coding silent(1)	lung(1)	c.T1077A						PASS	.	A		116,4290	88.2+/-126.9	2,112,2089	131	120	124		1077	-5.8	0	4	dbSNP_126	124	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	TMPRSS11B	NM_182502.3		2,120,6381	TT,TA,AA		0.093,2.6328,0.9534		359/417	69094472	124,12882	2203	4300	6503	SO:0001819	synonymous_variant	132724	exon9			TGCATCAGCTTCT	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.1077T>A	4.37:g.69094472A>T		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	252	114	0.452381	NM_182502	A8K4D9	Silent	SNP	ENST00000332644.5	37	CCDS3521.1																																																																																			A|0.990;T|0.010	0.010	strong		0.323	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		T	69094472	A	T	69094472	2	4	22	1	0	0	0	0	0	0	0	1	16237	175	7	5		5	TMPRSS11B	4	69094472	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	156287	69094472	122059804	2608	7716										
TMPRSS11B	132724	hgsc.bcm.edu	37	chr4	69098115	69098115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttgttggtaagcatttcAgaagcagccttgctgatttc	10	8	1	2	rs10018067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:69098115A>G	ENST00000332644.5	-	6	650	c.489T>C	c.(487-489)tcT>tcC	p.S163S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	163						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TAAGCATTTCAGAAGCAGCCT	0.289													a|||	141	0.028155	0.1006	0.0086	5008	,	,		13924	0.0		0.0	False		,,,				2504	0.002				p.S163S		Atlas-SNP	.											.	TMPRSS11B	66	.	0			c.T489C						PASS	.	G		346,4054	754.8+/-412.5	17,312,1871	49	56	53		489	1.9	0	4	dbSNP_119	53	14,8572	810.0+/-407.1	0,14,4279	no	coding-synonymous	TMPRSS11B	NM_182502.3		17,326,6150	GG,GA,AA		0.1631,7.8636,2.7722		163/417	69098115	360,12626	2200	4293	6493	SO:0001819	synonymous_variant	132724	exon6			CATTTCAGAAGCA	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.489T>C	4.37:g.69098115A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	158	80	0.506329	NM_182502	A8K4D9	Silent	SNP	ENST00000332644.5	37	CCDS3521.1																																																																																			A|0.973;G|0.027	0.027	strong		0.289	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		G	69098115	A	G	69098115	2	3	22	1	0	0	0	0	0	0	0	1	16237	175	7	3		3	TMPRSS11B	4	69098115	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3643	69098115	122056161	2609	7717										
TMPRSS11B	132724	hgsc.bcm.edu	37	chr4	69100200	69100200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgagtttaatggaagcAggaactgcattccaggatgc	11	9	0	1	rs4431295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:69100200A>G	ENST00000332644.5	-	5	611	c.450T>C	c.(448-450)ccT>ccC	p.P150P		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	150	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TAATGGAAGCAGGAACTGCAT	0.328													G|||	141	0.028155	0.1006	0.0086	5008	,	,		17100	0.0		0.0	False		,,,				2504	0.002				p.P150P		Atlas-SNP	.											.	TMPRSS11B	66	.	0			c.T450C						PASS	.	G		351,4055	794.2+/-415.3	20,311,1872	108	104	106		450	-8.9	0	4	dbSNP_111	106	14,8586	818.7+/-406.8	0,14,4286	no	coding-synonymous	TMPRSS11B	NM_182502.3		20,325,6158	GG,GA,AA		0.1628,7.9664,2.8064		150/417	69100200	365,12641	2203	4300	6503	SO:0001819	synonymous_variant	132724	exon5			GGAAGCAGGAACT	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.450T>C	4.37:g.69100200A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_182502	A8K4D9	Silent	SNP	ENST00000332644.5	37	CCDS3521.1																																																																																			A|0.970;G|0.030	0.030	strong		0.328	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		G	69100200	A	G	69100200	2	3	22	1	0	0	0	0	0	0	0	1	16237	175	7	3		3	TMPRSS11B	4	69100200	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2085	69100200	122054076	2610	7718										
TMPRSS11E	28983	hgsc.bcm.edu	37	chr4	69337325	69337325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccctaaagtagatcctcaCtcagttaaaattaaaagtaa	4	10	2	1	rs2603188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:69337325C>G	ENST00000305363.4	+	5	538	c.474C>G	c.(472-474)caC>caG	p.H158Q		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	158	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.			H -> Q (in Ref. 3; AC019173). {ECO:0000305}.	cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAGATCCTCACTCAGTTAAAA	0.313													G|||	468	0.0934505	0.1248	0.0778	5008	,	,		13908	0.004		0.1551	False		,,,				2504	0.091				p.H158Q		Atlas-SNP	.											.	TMPRSS11E	40	.	0			c.C474G						PASS	.	G	GLN/HIS	470,3936	776.0+/-414.1	24,422,1757	102	107	105		474	-10.9	0	4	dbSNP_100	105	1212,7386	759.5+/-407.6	85,1042,3172	yes	missense	TMPRSS11E	NM_014058.3	24	109,1464,4929	GG,GC,CC		14.0963,10.6673,12.9345	benign	158/424	69337325	1682,11322	2203	4299	6502	SO:0001583	missense	28983	exon5			TCCTCACTCAGTT	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.474C>G	4.37:g.69337325C>G	ENSP00000307519:p.His158Gln	Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	325	158	0.486154	NM_014058	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	198	0.09065934065934066	56	0.11382113821138211	27	0.07458563535911603	1	0.0017482517482517483	114	0.1503957783641161	G	0.664	-0.804394	0.02819	0.106673	0.140963	ENSG00000087128	ENST00000305363	T	0.32272	1.46	5.83	-10.9	0.00192	.	0.725069	0.12235	N	0.487060	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23226	-1.0194	9	0.27082	T	0.32	.	9.7094	0.40236	0.2174:0.3911:0.3915:0.0	.	158	Q9UL52	TM11E_HUMAN	Q	158	ENSP00000307519:H158Q	ENSP00000307519:H158Q	H	+	3	2	TMPRSS11E	69019920	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-2.211000	0.01226	-1.724000	0.01373	-2.686000	0.00141	CAC	C|0.887;G|0.113	0.113	strong		0.313	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		G	69337325	C	G	69337325	3	3	22	1	0	0	0	0	1	0	0	0	16239	564	20	4	492	4	TMPRSS11E	4	69337325	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	237125	69337325	121816951	2611	7719										
UGT2B11	10720	hgsc.bcm.edu	37	chr4	70078393	70078393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaggagtttcgcataagCcatatgtcagcttttcccat	7	12	1	0	rs138593124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:70078393C>T	ENST00000446444.1	-	2	776	c.768G>A	c.(766-768)tgG>tgA	p.W256*	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	256					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCGCATAAGCCATATGTCAG	0.388													.|||	22	0.00439297	0.0159	0.0014	5008	,	,		14009	0.0		0.0	False		,,,				2504	0.0				p.W256X		Atlas-SNP	.											.	UGT2B11	92	.	0			c.G768A						PASS	.	C	stop/TRP	83,4323		1,81,2121	141	147	145		768	2	0.2	4	dbSNP_134	145	0,8598		0,0,4299	no	stop-gained	UGT2B11	NM_001073.1		1,81,6420	TT,TC,CC		0.0,1.8838,0.6383		256/530	70078393	83,12921	2203	4299	6502	SO:0001587	stop_gained	10720	exon2			CATAAGCCATATG	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.768G>A	4.37:g.70078393C>T	ENSP00000387683:p.Trp256*	Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	336	151	0.449405	NM_001073	Q3KNV9	Nonsense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	-	12.43	1.936842	0.34189	0.018838	0.0	ENSG00000213759	ENST00000446444	.	.	.	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	.	.	.	X	256	.	ENSP00000387683:W256X	W	-	3	0	UGT2B11	70112982	1.000000	0.71417	0.183000	0.23137	0.044000	0.14063	4.939000	0.63526	1.087000	0.41251	0.184000	0.17185	TGG	C|0.993;T|0.007	0.007	strong		0.388	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		T	70078393	C	T	70078393	4	4	22	1	0	0	0	0	0	1	0	0	16954	740	26	2	841	2	UGT2B11	4	70078393	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	741068	70078393	121075883	2612	7720										
UGT2A2	10941	hgsc.bcm.edu	37	chr4	70505162	70505162	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagttgatgaatagagttGctgatgaagccagtacagtc	13	5	0	5	rs28404221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:70505162G>A	ENST00000503640.1	-	1	771				UGT2A2_ENST00000457664.2_Missense_Mutation_p.A66V|UGT2A1_ENST00000514019.1_Missense_Mutation_p.A267V|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAATAGAGTTGCTGATGAAGC	0.353													G|||	236	0.0471246	0.0461	0.0259	5008	,	,		18175	0.0734		0.0298	False		,,,				2504	0.0542				p.A267V		Atlas-SNP	.											.	UGT2A1	131	.	0			c.C800T						PASS	.	G	VAL/ALA,	192,3534		10,172,1681	128	128	128		197,	0.6	1	4	dbSNP_125	128	282,7900		9,264,3818	yes	missense,intron	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	64,	19,436,5499	AA,AG,GG		3.4466,5.153,3.9805	,	66/537,	70505162	474,11434	1863	4091	5954	SO:0001627	intron_variant	10941	exon3			AGAGTTGCTGATG	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7485C>T	4.37:g.70505162G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	128	52	0.40625	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	99	0.04532967032967033	26	0.052845528455284556	14	0.03867403314917127	39	0.06818181818181818	20	0.026385224274406333	G	9.389	1.075007	0.20227	0.05153	0.034466	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61627	0.09;0.17	5.85	0.643	0.17770	.	.	.	.	.	T	0.04907	0.0132	L	0.42632	1.34	.	.	.	B;B	0.27971	0.041;0.196	B;B	0.27380	0.038;0.079	T	0.27157	-1.0082	8	0.12103	T	0.63	.	11.1222	0.48298	0.0:0.104:0.4657:0.4303	rs28404221	267;66	E9PDM7;Q9Y4X1-2	.;.	V	66;267	ENSP00000387888:A66V;ENSP00000425497:A267V	ENSP00000387888:A66V	A	-	2	0	UGT2A1	70539751	0.001000	0.12720	0.976000	0.42696	0.952000	0.60782	1.072000	0.30678	0.331000	0.23511	0.585000	0.79938	GCA	G|0.956;A|0.044	0.044	strong		0.353	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		A	70505162	G	A	70505162	1	1	22	0	1	0	0	0	0	0	0	0	16951	1319	46	2		2	UGT2A2	4	70505162	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	426769	70505162	120649114	2613	7721										
C4orf40	401137	hgsc.bcm.edu	37	chr4	71024268	71024268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccttagctactcagttgaAtgttcctcctctccctccta	4	16	2	1	rs116632053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71024268A>G	ENST00000344526.5	+	3	488	c.299A>G	c.(298-300)aAt>aGt	p.N100S	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.N100S	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		100	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTCAGTTGAATGTTCCTCCT	0.512													A|||	48	0.00958466	0.0348	0.0029	5008	,	,		20664	0.0		0.0	False		,,,				2504	0.0				p.N100S		Atlas-SNP	.											.	C4orf40	19	.	0			c.A299G						PASS	.	A	SER/ASN	178,4228	115.4+/-153.4	1,176,2026	264	254	257		299	-7.7	0	4	dbSNP_132	257	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C4orf40	NM_214711.3	46	1,177,6325	GG,GA,AA		0.0116,4.0399,1.3763	benign	100/220	71024268	179,12827	2203	4300	6503	SO:0001583	missense	401137	exon3			AGTTGAATGTTCC																												ENST00000344526.5:c.299A>G	4.37:g.71024268A>G	ENSP00000343172:p.Asn100Ser	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	213	100	0.469484	NM_214711	A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	A	10.53	1.375740	0.24857	0.040399	1.16E-4	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.34859	1.34;1.34	3.84	-7.67	0.01272	.	.	.	.	.	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.17992	-1.0351	9	0.13853	T	0.58	0.3329	1.6043	0.02681	0.3253:0.1509:0.0919:0.4319	.	100	Q6MZM9	CD040_HUMAN	S	100	ENSP00000426249:N100S;ENSP00000343172:N100S	ENSP00000343172:N100S	N	+	2	0	C4orf40	71058857	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.709000	0.00819	-2.592000	0.00456	-0.842000	0.03052	AAT	A|0.986;G|0.014	0.014	strong		0.512	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			G	71024268	A	G	71024268	3	3	22	1	0	0	0	0	1	0	0	0	2269	101	4	2	309	2	C4orf40	4	71024268	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	519106	71024268	120130008	2614	7722										
C4orf40	401137	hgsc.bcm.edu	37	chr4	71024552	71024552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgcagaggaaccttcaCcagctgagcctgctacagcc	10	15	1	2	rs143985138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71024552C>G	ENST00000344526.5	+	3	772	c.583C>G	c.(583-585)Cca>Gca	p.P195A	C4orf40_ENST00000502294.1_Missense_Mutation_p.P195A	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		195	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAACCTTCACCAGCTGAGCC	0.557													C|||	48	0.00958466	0.0348	0.0029	5008	,	,		16492	0.0		0.0	False		,,,				2504	0.0				p.P195A		Atlas-SNP	.											.	C4orf40	19	.	0			c.C583G						PASS	.	C	ALA/PRO	172,4234		1,170,2032	57	52	54		583	-7.9	0	4	dbSNP_134	54	1,8599		0,1,4299	yes	missense	C4orf40	NM_214711.3	27	1,171,6331	GG,GC,CC		0.0116,3.9038,1.3302	benign	195/220	71024552	173,12833	2203	4300	6503	SO:0001583	missense	401137	exon3			CCTTCACCAGCTG																												ENST00000344526.5:c.583C>G	4.37:g.71024552C>G	ENSP00000343172:p.Pro195Ala	Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	303	136	0.448845	NM_214711	A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	C	5.440	0.266257	0.10294	0.039038	1.16E-4	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.28454	1.61;1.61	3.97	-7.94	0.01152	.	.	.	.	.	T	0.02047	0.0064	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.26538	-1.0100	9	0.02654	T	1	5.212	3.7914	0.08722	0.2107:0.3878:0.3086:0.0929	.	195	Q6MZM9	CD040_HUMAN	A	195	ENSP00000426249:P195A;ENSP00000343172:P195A	ENSP00000343172:P195A	P	+	1	0	C4orf40	71059141	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.133000	0.15912	-1.914000	0.01078	0.411000	0.27672	CCA	C|0.987;G|0.013	0.013	strong		0.557	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			G	71024552	C	G	71024552	3	3	22	1	0	0	0	0	1	0	0	0	2269	507	18	4	593	4	C4orf40	4	71024552	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	284	71024552	120129724	2615	7723										
ODAM	54959	hgsc.bcm.edu	37	chr4	71062426	71062426	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcttatcccacagcgtctCatgtctgccagcaatagcaa	7	13	2	0	rs17704351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71062426C>T	ENST00000396094.2	+	2	117	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	23					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAGCGTCTCATGTCTGCCA	0.343													T|||	1445	0.288538	0.1641	0.2032	5008	,	,		16862	0.2996		0.2753	False		,,,				2504	0.5194				p.L23L		Atlas-SNP	.											.	ODAM	38	.	0			c.C69T						PASS	.	T		711,2935		73,565,1185	65	59	61		69	-0.4	0	4	dbSNP_123	61	2316,5846		329,1658,2094	no	coding-synonymous	ODAM	NM_017855.3		402,2223,3279	TT,TC,CC		28.3754,19.5008,25.6352		23/280	71062426	3027,8781	1823	4081	5904	SO:0001819	synonymous_variant	54959	exon2			GCGTCTCATGTCT	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.69C>T	4.37:g.71062426C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	218	105	0.481651	NM_017855	Q8WWE5|Q9NWZ9	Silent	SNP	ENST00000396094.2	37	CCDS3536.2																																																																																			C|0.741;T|0.259	0.259	strong		0.343	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		T	71062426	C	T	71062426	2	4	22	1	0	0	0	0	0	0	0	1	10824	813	29	2		2	ODAM	4	71062426	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37874	71062426	120091850	2616	7724										
ODAM	54959	hgsc.bcm.edu	37	chr4	71068489	71068489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagtcaacaggagaagagaTaccatatttacaaaaagaag	9	5	1	3	rs3196714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71068489T>C	ENST00000396094.2	+	9	713	c.665T>C	c.(664-666)aTa>aCa	p.I222T		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	222			I -> T (in dbSNP:rs3196714). {ECO:0000269|PubMed:14702039}.		biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GGAGAAGAGATACCATATTTA	0.388													T|||	1421	0.283746	0.1596	0.2017	5008	,	,		15660	0.3006		0.2753	False		,,,				2504	0.501				p.I222T		Atlas-SNP	.											.	ODAM	38	.	0			c.T665C						PASS	.	T	THR/ILE	851,3555	332.3+/-302.4	86,679,1438	67	63	64		665	0.7	0	4	dbSNP_105	64	2459,6135	403.7+/-347.9	352,1755,2190	yes	missense	ODAM	NM_017855.3	89	438,2434,3628	CC,CT,TT		28.613,19.3146,25.4615	benign	222/280	71068489	3310,9690	2203	4297	6500	SO:0001583	missense	54959	exon9			AAGAGATACCATA	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.665T>C	4.37:g.71068489T>C	ENSP00000379401:p.Ile222Thr	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	234	114	0.487179	NM_017855	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	543	0.24862637362637363	87	0.17682926829268292	80	0.22099447513812154	171	0.29895104895104896	205	0.2704485488126649	T	5.932	0.355955	0.11239	0.193146	0.28613	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50548	0.74;0.74	4.85	0.676	0.17958	.	1.354960	0.04719	N	0.418965	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.13145	0.007	B	0.10450	0.005	T	0.24190	-1.0167	9	0.16896	T	0.51	-0.0118	7.0742	0.25195	0.0:0.2961:0.0:0.7039	rs3196714;rs17419342;rs17653374;rs52834624;rs3196714	222	A1E959	ODAM_HUMAN	T	222;208;159	ENSP00000379401:I222T;ENSP00000426106:I159T	ENSP00000379401:I222T	I	+	2	0	ODAM	71103078	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.329000	0.19698	0.042000	0.15717	-0.254000	0.11334	ATA	C|0.258;N|0.001	0.258	strong		0.388	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		C	71068489	T	C	71068489	3	2	22	1	0	0	0	0	1	0	0	0	10824	1406	49	2	699	2	ODAM	4	71068489	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6063	71068489	120085787	2617	7725										
SMR3A	26952	hgsc.bcm.edu	37	chr4	71232701	71232701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatcctgccctccctactcCtgcaccctaaatacagacaa	4	17	0	2	rs6853742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71232701C>T	ENST00000226460.4	+	3	491	c.395C>T	c.(394-396)cCt>cTt	p.P132L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	132	Pro-rich.		P -> L (in dbSNP:rs6853742). {ECO:0000269|PubMed:9354371}.			extracellular region (GO:0005576)		p.P132L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCCTACTCCTGCACCCTAA	0.488													C|||	3300	0.658946	0.7678	0.7017	5008	,	,		17875	0.5903		0.6909	False		,,,				2504	0.5194				p.P132L		Atlas-SNP	.											SMR3A,NS,carcinoma,0,1	SMR3A	35	1	1	Substitution - Missense(1)	prostate(1)	c.C395T						PASS	.	C	LEU/PRO	3394,1012	728.9+/-410.0	1297,800,106	78	76	76		395	1.6	0	4	dbSNP_116	76	5766,2834	675.5+/-403.2	1921,1924,455	yes	missense	SMR3A	NM_012390.3	98	3218,2724,561	TT,TC,CC		32.9535,22.9687,29.571	benign	132/135	71232701	9160,3846	2203	4300	6503	SO:0001583	missense	26952	exon3			CTACTCCTGCACC	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"proline rich 5 (salivary)", "submaxillary gland androgen regulated protein 3 homolog A (mouse)"	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.395C>T	4.37:g.71232701C>T	ENSP00000226460:p.Pro132Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	119	67	0.563025	NM_012390		Missense_Mutation	SNP	ENST00000226460.4	37	CCDS34000.1	1504	0.6886446886446886	384	0.7804878048780488	250	0.6906077348066298	349	0.6101398601398601	521	0.6873350923482849	C	4.553	0.102743	0.08731	0.770313	0.670465	ENSG00000109208	ENST00000226460	T	0.28069	1.63	3.34	1.6	0.23607	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.19073	0.033	B	0.15052	0.012	T	0.40021	-0.9585	8	0.02654	T	1	.	5.7651	0.18221	0.0:0.7476:0.0:0.2524	rs6853742;rs17717779;rs52813334;rs60016415;rs6853742	132	Q99954	SMR3A_HUMAN	L	132	ENSP00000226460:P132L	ENSP00000226460:P132L	P	+	2	0	SMR3A	71267290	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.013000	0.13310	0.420000	0.25954	-0.254000	0.11334	CCT	C|0.296;N|0.000	.	strong		0.488	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		T	71232701	C	T	71232701	3	4	22	1	0	0	0	0	1	0	0	0	14811	681	24	2	401	2	SMR3A	4	71232701	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	164212	71232701	119921575	2618	7726										
PROL1	58503	hgsc.bcm.edu	37	chr4	71275631	71275632	+	Frame_Shift_Ins	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctccatatcagcagcaaINScccccgcagcatctactgaa					rs573505950|rs201259916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71275631_71275632insC	ENST00000399575.2	+	3	760_761	c.586_587insC	c.(586-588)accfs	p.T196fs		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	196	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATCAGCAGCAACCCCCGCAGCA	0.49													CCCCC|CCCCC|CCCCCC|insertion	10	0.00199681	0.0068	0.0014	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0				p.T196fs		Pindel,Atlas-Indel	.											.	PROL1	46	.	0			c.586_587insC						PASS	.			26,3928		2,22,1953						0.2	0			139	0,8034		0,0,4017	no	frameshift	PROL1	NM_021225.4		2,22,5970	A1A1,A1R,RR		0.0,0.6576,0.2169				26,11962				SO:0001589	frameshift_variant	58503	exon3			.	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.591dupC	4.37:g.71275636_71275636dupC	ENSP00000382485:p.Thr196fs	Somatic	167	.	.		WXS	Illumina HiSeq	Phase_I	197	65	0.33	NM_021225	A8MZ07|P85047	Frame_Shift_Ins	INS	ENST00000399575.2	37	CCDS43235.1																																																																																			.	.	none		0.49	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		C	71275632	-	C	71275631	7	5	22	1	0	1	1	0	0	0	0	0	12554	43	2	0	592	0	PROL1	4	71275631	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	42930	71275631	119878645	2619	7727										
AMBN	258	hgsc.bcm.edu	37	chr4	71468346	71468348	+	In_Frame_Del	DEL	AGG	AGG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatctgtgatatagctcccAggagtagattttgctgatcc					rs368655454|rs141384720|rs199556863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71468346_71468348delAGG	ENST00000322937.6	+	7	640_642	c.537_539delAGG	c.(535-540)ccagga>cca	p.G180del	AMBN_ENST00000449493.2_In_Frame_Del_p.G165del	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	180				G -> R (in Ref. 3; AAG35772 and 4; AAG27036). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TATAGCTCCCAGGAGTAGATTTT	0.261														603	0.120407	0.1483	0.0749	5008	,	,		15284	0.1577		0.0646	False		,,,				2504	0.1339				p.179_180del		Pindel,Atlas-Indel	.											.	AMBN	73	.	0			c.536_538del						PASS	.			554,3682		46,462,1610						3.3	0		dbSNP_134	48	593,7635		24,545,3545	no	coding	AMBN	NM_016519.5		70,1007,5155	A1A1,A1R,RR		7.2071,13.0784,9.2025				1147,11317				SO:0001651	inframe_deletion	258	exon7			.	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.537_539delAGG	4.37:g.71468346_71468348delAGG	ENSP00000313809:p.Gly180del	Somatic	285	.	.		WXS	Illumina HiSeq	Phase_I	220	55	0.25	NM_016519	Q3B862|Q9H2X1|Q9H4L1	In_Frame_Del	DEL	ENST00000322937.6	37	CCDS3543.1																																																																																			AGG|0.889;-|0.111	0.111	strong		0.261	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		-	71468348	AGG	-	71468346	7	5	22	1	0	1	0	1	0	0	0	0	563	175	7	0	563	0	AMBN	4	71468346	In_Frame_Del	DEL	AGG	TCGA-G8-6324-01A-11D-2210-10	192715	71468346	119685930	2620	7728										
AMBN	258	hgsc.bcm.edu	37	chr4	71472426	71472426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgagatgatgcatgacgcAtggcatttccaagagccctg	11	12	0	4	rs7680880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71472426A>G	ENST00000322937.6	+	13	1426	c.1323A>G	c.(1321-1323)gcA>gcG	p.A441A	AMBN_ENST00000449493.2_Silent_p.A426A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	441					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGCATGACGCATGGCATTTCC	0.488													a|||	1381	0.275759	0.6793	0.1297	5008	,	,		19196	0.1468		0.0825	False		,,,				2504	0.1656				p.A441A		Atlas-SNP	.											.	AMBN	73	.	0			c.A1323G						PASS	.	A		2426,1946		682,1062,442	45	51	49		1323	-9	0	4	dbSNP_116	49	612,7966		15,582,3692	no	coding-synonymous	AMBN	NM_016519.5		697,1644,4134	GG,GA,AA		7.1345,44.5105,23.4595		441/448	71472426	3038,9912	2186	4289	6475	SO:0001819	synonymous_variant	258	exon13			TGACGCATGGCAT	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1323A>G	4.37:g.71472426A>G		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	282	161	0.570922	NM_016519	Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	CCDS3543.1																																																																																			A|0.762;G|0.238	0.238	strong		0.488	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		G	71472426	A	G	71472426	2	3	22	1	0	0	0	0	0	0	0	1	563	204	8	2		2	AMBN	4	71472426	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4080	71472426	119681850	2621	7729										
ENAM	10117	hgsc.bcm.edu	37	chr4	71508869	71508869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaagaaatctctccacctTttaaggaagatccagggagg	9	10	1	2	rs2609428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71508869T>C	ENST00000396073.3	+	9	2007	c.1726T>C	c.(1726-1728)Ttt>Ctt	p.F576L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	576			F -> L (in dbSNP:rs2609428).		amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTCTCCACCTTTTAAGGAAGA	0.443													T|||	197	0.0393371	0.1346	0.0144	5008	,	,		20189	0.0		0.0089	False		,,,				2504	0.0				p.F576L		Atlas-SNP	.											.	ENAM	140	.	0			c.T1726C						PASS	.	T	LEU/PHE	528,3878	231.7+/-245.5	27,474,1702	161	168	166		1726	3.5	0.9	4	dbSNP_100	166	29,8571	18.5+/-59.3	0,29,4271	yes	missense	ENAM	NM_031889.2	22	27,503,5973	CC,CT,TT		0.3372,11.9837,4.2826	benign	576/1143	71508869	557,12449	2203	4300	6503	SO:0001583	missense	10117	exon9			CCACCTTTTAAGG	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1726T>C	4.37:g.71508869T>C	ENSP00000379383:p.Phe576Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	137	62	0.452555	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	80	0.03663003663003663	72	0.14634146341463414	5	0.013812154696132596	0	0.0	3	0.00395778364116095	T	12.85	2.062285	0.36373	0.119837	0.003372	ENSG00000132464	ENST00000396073	T	0.40756	1.02	5.83	3.45	0.39498	.	0.216214	0.33438	N	0.004920	T	0.00109	0.0003	N	0.20574	0.59	0.41757	P	0.010307999999999984	B	0.23735	0.09	B	0.26969	0.075	T	0.14008	-1.0488	9	0.05620	T	0.96	-5.2885	6.2822	0.21013	0.0:0.1986:0.0:0.8014	rs2609428;rs2609428	576	Q9NRM1	ENAM_HUMAN	L	576	ENSP00000379383:F576L	ENSP00000379383:F576L	F	+	1	0	ENAM	71727733	0.757000	0.28394	0.948000	0.38648	0.909000	0.53808	0.881000	0.28173	1.034000	0.39945	0.533000	0.62120	TTT	T|0.952;C|0.048	0.048	strong		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		C	71508869	T	C	71508869	3	2	22	1	0	0	0	0	1	0	0	0	5112	1841	64	2	1756	2	ENAM	4	71508869	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36443	71508869	119645407	2622	7730										
ENAM	10117	hgsc.bcm.edu	37	chr4	71509086	71509086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccccagaccagaaggagaTagtcccttataatgaagagg	10	9	0	5	rs7671281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71509086T>C	ENST00000396073.3	+	9	2224	c.1943T>C	c.(1942-1944)aTa>aCa	p.I648T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	648			I -> T (in dbSNP:rs7671281). {ECO:0000269|PubMed:18245370}.		amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGAAGGAGATAGTCCCTTAT	0.453													C|||	910	0.181709	0.5348	0.111	5008	,	,		18323	0.0228		0.0487	False		,,,				2504	0.0552				p.I648T		Atlas-SNP	.											.	ENAM	140	.	0			c.T1943C						PASS	.	C	THR/ILE	1951,2455	620.5+/-393.6	430,1091,682	111	116	114		1943	0.5	0	4	dbSNP_116	114	377,8223	802.2+/-407.3	4,369,3927	yes	missense	ENAM	NM_031889.2	89	434,1460,4609	CC,CT,TT		4.3837,44.2805,17.8994	benign	648/1143	71509086	2328,10678	2203	4300	6503	SO:0001583	missense	10117	exon9			AGGAGATAGTCCC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1943T>C	4.37:g.71509086T>C	ENSP00000379383:p.Ile648Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	123	53	0.430894	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	341	0.15613553113553114	258	0.524390243902439	40	0.11049723756906077	5	0.008741258741258742	38	0.05013192612137203	C	0.011	-1.711190	0.00712	0.442805	0.043837	ENSG00000132464	ENST00000396073	T	0.25414	1.8	5.65	0.53	0.17102	.	0.377541	0.23112	N	0.051783	T	0.00012	0.0000	N	0.00049	-2.415	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43261	-0.9402	9	0.02654	T	1	-2.606	1.0929	0.01667	0.1455:0.3194:0.2828:0.2523	rs7671281;rs52818760;rs7671281	648	Q9NRM1	ENAM_HUMAN	T	648	ENSP00000379383:I648T	ENSP00000379383:I648T	I	+	2	0	ENAM	71727950	0.000000	0.05858	0.020000	0.16555	0.939000	0.58152	-0.766000	0.04725	0.342000	0.23796	-0.119000	0.15052	ATA	T|0.819;C|0.181	0.181	strong		0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		C	71509086	T	C	71509086	3	2	22	1	0	0	0	0	1	0	0	0	5112	1406	49	2	1973	2	ENAM	4	71509086	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	217	71509086	119645190	2623	7731										
ENAM	10117	hgsc.bcm.edu	37	chr4	71510368	71510368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaccggaactccatctagCgatggaaggcaaagcccatt	9	13	1	0	rs61737041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71510368C>T	ENST00000396073.3	+	9	3506	c.3225C>T	c.(3223-3225)agC>agT	p.S1075S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1075					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTCCATCTAGCGATGGAAGGC	0.433													C|||	40	0.00798722	0.0295	0.0014	5008	,	,		24126	0.0		0.0	False		,,,				2504	0.0				p.S1075S		Atlas-SNP	.											.	ENAM	140	.	0			c.C3225T						PASS	.	C		106,4300	82.4+/-120.9	2,102,2099	96	93	94		3225	4.2	1	4	dbSNP_129	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ENAM	NM_031889.2		2,103,6398	TT,TC,CC		0.0116,2.4058,0.8227		1075/1143	71510368	107,12899	2203	4300	6503	SO:0001819	synonymous_variant	10117	exon9			ATCTAGCGATGGA	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3225C>T	4.37:g.71510368C>T		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	266	127	0.477444	NM_031889	Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																			C|0.993;T|0.007	0.007	strong		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71510368	C	T	71510368	2	4	22	1	0	0	0	0	0	0	0	1	5112	767	27	1		1	ENAM	4	71510368	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1282	71510368	119643908	2624	7732										
IGJ	3512	hgsc.bcm.edu	37	chr4	71522999	71522999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatattctccctgttgttCagaggaacactaaaagaaaa	8	7	2	3	rs75928327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71522999C>T	ENST00000254801.4	-	3	367	c.198G>A	c.(196-198)ctG>ctA	p.L66L	IGJ_ENST00000543780.1_Silent_p.L82L|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	66					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CCCTGTTGTTCAGAGGAACAC	0.328													C|||	45	0.00898562	0.034	0.0	5008	,	,		16873	0.0		0.0	False		,,,				2504	0.0				p.L66L		Atlas-SNP	.											.	IGJ	13	.	0			c.G198A						PASS	.	C		103,4303	82.9+/-121.4	0,103,2100	81	77	78		198	4.7	1	4	dbSNP_132	78	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	IGJ	NM_144646.3		0,105,6396	TT,TC,CC		0.0233,2.3377,0.8076		66/160	71522999	105,12897	2203	4298	6501	SO:0001819	synonymous_variant	3512	exon3			GTTGTTCAGAGGA	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"Immunoglobulins / IGJ linker"	5713	protein-coding gene	gene with protein product	"immunoglobulin J chain", "IgJ chain"	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.198G>A	4.37:g.71522999C>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_144646		Silent	SNP	ENST00000254801.4	37	CCDS3545.1																																																																																			C|0.990;T|0.010	0.010	strong		0.328	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		T	71522999	C	T	71522999	2	4	22	1	0	0	0	0	0	0	0	1	7592	813	29	2		2	IGJ	4	71522999	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12631	71522999	119631277	2625	7733										
UTP3	57050	hgsc.bcm.edu	37	chr4	71555656	71555656	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgctaaaaataggggacTtactcctaggagaaagaaga	10	5	0	3	rs111975570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:71555656T>G	ENST00000254803.2	+	1	1461	c.1262T>G	c.(1261-1263)cTt>cGt	p.L421R		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	421					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AATAGGGGACTTACTCCTAGG	0.388													T|||	36	0.0071885	0.0272	0.0	5008	,	,		17360	0.0		0.0	False		,,,				2504	0.0				p.L421R		Atlas-SNP	.											.	UTP3	40	.	0			c.T1262G						PASS	.	T	ARG/LEU	64,4342	61.1+/-98.1	0,64,2139	89	95	93		1262	5.5	1	4	dbSNP_132	93	0,8600		0,0,4300	yes	missense	UTP3	NM_020368.2	102	0,64,6439	GG,GT,TT		0.0,1.4526,0.4921	probably-damaging	421/480	71555656	64,12942	2203	4300	6503	SO:0001583	missense	57050	exon1			GGGGACTTACTCC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1262T>G	4.37:g.71555656T>G	ENSP00000254803:p.Leu421Arg	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_020368	Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	T	20.6	4.011830	0.75046	0.014526	0.0	ENSG00000132467	ENST00000254803	T	0.62788	-0.0	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85360	0.1107	10	0.72032	D	0.01	-6.9132	15.8384	0.78818	0.0:0.0:0.0:1.0	.	421	Q9NQZ2	SAS10_HUMAN	R	421	ENSP00000254803:L421R	ENSP00000254803:L421R	L	+	2	0	UTP3	71774520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.366000	0.79548	2.191000	0.70037	0.533000	0.62120	CTT	T|0.994;G|0.006	0.006	strong		0.388	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		G	71555656	T	G	71555656	3	3	22	1	0	0	0	0	1	0	0	0	17098	1609	56	5	1264	5	UTP3	4	71555656	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32657	71555656	119598620	2626	7734										
SLC4A4	8671	hgsc.bcm.edu	37	chr4	72338467	72338467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttggattggcctgtggtcCgccttcctatgtctcatttt	9	11	1	0	rs35169468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:72338467C>T	ENST00000264485.5	+	14	1800	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	SLC4A4_ENST00000512686.1_Silent_p.S517S|SLC4A4_ENST00000351898.6_Silent_p.S561S|SLC4A4_ENST00000340595.3_Silent_p.S517S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Silent_p.S561S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	561					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCCTGTGGTCCGCCTTCCTAT	0.433													C|||	81	0.0161741	0.0446	0.0072	5008	,	,		17363	0.0		0.0	False		,,,				2504	0.0174				p.S561S		Atlas-SNP	.											.	SLC4A4	269	.	0			c.C1683T						PASS	.	C	,,	161,4245	110.8+/-149.0	2,157,2044	175	173	174		1683,1683,1551	-3.7	1	4	dbSNP_126	174	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	,,	2,159,6342	TT,TC,CC		0.0233,3.6541,1.2533	,,	561/1080,561/1095,517/1036	72338467	163,12843	2203	4300	6503	SO:0001819	synonymous_variant	8671	exon14			GTGGTCCGCCTTC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1683C>T	4.37:g.72338467C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	124	52	0.419355	NM_001098484	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	CCDS43236.1																																																																																			C|0.988;T|0.012	0.012	strong		0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72338467	C	T	72338467	2	4	22	1	0	0	0	0	0	0	0	1	14656	639	23	1		1	SLC4A4	4	72338467	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	782811	72338467	118815809	2627	7735										
GC	2638	hgsc.bcm.edu	37	chr4	72622566	72622566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggctgttttttcttgacaAcagtcttcaaacttagaatt	6	7	3	2	rs4752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:72622566A>G	ENST00000273951.8	-	8	1240	c.897T>C	c.(895-897)tgT>tgC	p.C299C	GC_ENST00000513476.1_Silent_p.C299C|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000504199.1_Silent_p.C318C|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	299	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTTCTTGACAACAGTCTTCAA	0.418													A|||	529	0.105631	0.2965	0.0634	5008	,	,		16631	0.0794		0.0119	False		,,,				2504	0.001				p.C318C		Atlas-SNP	.											.	GC	132	.	0			c.T954C						PASS	.	A	,,	1038,3368	381.6+/-324.1	136,766,1301	74	74	74		897,897,954	0.4	1	4	dbSNP_52	74	31,8569	21.6+/-65.8	0,31,4269	no	coding-synonymous,coding-synonymous,coding-synonymous	GC	NM_000583.3,NM_001204306.1,NM_001204307.1	,,	136,797,5570	GG,GA,AA		0.3605,23.5588,8.2193	,,	299/475,299/475,318/494	72622566	1069,11937	2203	4300	6503	SO:0001819	synonymous_variant	2638	exon9			TTGACAACAGTCT	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.897T>C	4.37:g.72622566A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	130	130	1	NM_001204307	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	CCDS3550.1																																																																																			A|0.897;G|0.103	0.103	strong		0.418	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			G	72622566	A	G	72622566	2	3	22	1	0	0	0	0	0	0	0	1	6282	41	2	2		2	GC	4	72622566	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	284099	72622566	118531710	2628	7736										
NPFFR2	10886	hgsc.bcm.edu	37	chr4	73012709	73012709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcaggttccagtgtgtggTctacccttttaaaccaaagc	9	10	1	0	rs61733659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:73012709T>C	ENST00000308744.6	+	4	847	c.749T>C	c.(748-750)gTc>gCc	p.V250A	NPFFR2_ENST00000358749.3_Missense_Mutation_p.V148A|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.V151A	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	250					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAGTGTGTGGTCTACCCTTTT	0.393													T|||	47	0.00938498	0.0348	0.0014	5008	,	,		18136	0.0		0.0	False		,,,				2504	0.0				p.V250A		Atlas-SNP	.											.	NPFFR2	98	.	0			c.T749C						PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL	122,4284	91.6+/-130.3	5,112,2086	189	190	190		452,749,443	5.8	1	4	dbSNP_129	190	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	NPFFR2	NM_001144756.1,NM_004885.2,NM_053036.2	64,64,64	5,114,6384	CC,CT,TT		0.0233,2.769,0.9534	possibly-damaging,possibly-damaging,possibly-damaging	151/424,250/523,148/421	73012709	124,12882	2203	4300	6503	SO:0001583	missense	10886	exon4			GTGTGGTCTACCC	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.749T>C	4.37:g.73012709T>C	ENSP00000307822:p.Val250Ala	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	42	0.488372	NM_004885	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	T	17.37	3.371957	0.61624	0.02769	2.33E-4	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.38887	1.11;1.11;1.11	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.256399	0.27725	N	0.018102	T	0.32133	0.0819	M	0.85299	2.745	0.80722	D	1	P;D	0.55385	0.772;0.971	P;P	0.57057	0.628;0.812	T	0.60662	-0.7219	10	0.87932	D	0	.	15.8328	0.78769	0.0:0.0:0.0:1.0	rs61733659	151;250	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	A	250;151;148	ENSP00000307822:V250A;ENSP00000379321:V151A;ENSP00000351599:V148A	ENSP00000307822:V250A	V	+	2	0	NPFFR2	73231573	1.000000	0.71417	0.974000	0.42286	0.178000	0.23041	7.911000	0.87458	2.221000	0.72209	0.528000	0.53228	GTC	T|0.990;C|0.010	0.010	strong		0.393	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		C	73012709	T	C	73012709	3	2	22	1	0	0	0	0	1	0	0	0	10578	1667	58	2	769	2	NPFFR2	4	73012709	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	390143	73012709	118141567	2629	7737										
COX18	285521	hgsc.bcm.edu	37	chr4	73930552	73930552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagaatccaagtggagtcGggtgcagtgaggtcaggaaa	17	6	1	2	rs3762883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:73930552G>A	ENST00000295890.4	-	4	754	c.663C>T	c.(661-663)ccC>ccT	p.P221P	COX18_ENST00000507544.2_Silent_p.P222P	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	221					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGTGGAGTCGGGTGCAGTGA	0.383													c|||	1710	0.341454	0.1891	0.2983	5008	,	,		17295	0.3879		0.4563	False		,,,				2504	0.4121				p.P221P		Atlas-SNP	.											.	COX18	20	.	0			c.C663T						PASS	.	T		1055,3351		146,763,1294	77	76	77		663	0.5	0.3	4	dbSNP_107	77	3677,4923		774,2129,1397	no	coding-synonymous	COX18	NM_173827.2		920,2892,2691	AA,AG,GG		42.7558,23.9446,36.3832		221/334	73930552	4732,8274	2203	4300	6503	SO:0001819	synonymous_variant	285521	exon4			GGAGTCGGGTGCA	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.663C>T	4.37:g.73930552G>A		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	232	117	0.50431	NM_173827	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	CCDS3554.1																																																																																			G|0.650;C|0.000;A|0.350	0.350	strong		0.383	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		A	73930552	G	A	73930552	2	1	22	1	0	0	0	0	0	0	0	1	3767	1103	39	1		1	COX18	4	73930552	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	917843	73930552	117223724	2630	7738										
ANKRD17	26057	hgsc.bcm.edu	37	chr4	73956736	73956736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttaatgtgattgacactGaggactgcaacagatgaatt	9	6	0	5	rs6855349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:73956736G>A	ENST00000358602.4	-	29	6725	c.6609C>T	c.(6607-6609)ctC>ctT	p.L2203L	ANKRD17_ENST00000330838.6_Silent_p.L1952L|ANKRD17_ENST00000509867.2_Silent_p.L2090L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2203					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTGACACTGAGGACTGCAA	0.458													G|||	1762	0.351837	0.2375	0.2968	5008	,	,		20331	0.3849		0.4483	False		,,,				2504	0.4121				p.L2203L		Atlas-SNP	.											.	ANKRD17	214	.	0			c.C6609T						PASS	.	G	,	1217,3189	422.5+/-339.8	185,847,1171	134	141	139		6609,5856	3.7	1	4	dbSNP_116	139	3585,5015	519.3+/-379.4	736,2113,1451	no	coding-synonymous,coding-synonymous	ANKRD17	NM_032217.3,NM_198889.1	,	921,2960,2622	AA,AG,GG		41.686,27.6214,36.9214	,	2203/2604,1952/2353	73956736	4802,8204	2203	4300	6503	SO:0001819	synonymous_variant	26057	exon29			GACACTGAGGACT	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6609C>T	4.37:g.73956736G>A		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	165	76	0.460606	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																			G|0.639;A|0.361	0.361	strong		0.458	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	73956736	G	A	73956736	2	1	22	1	0	0	0	0	0	0	0	1	646	1277	45	2		2	ANKRD17	4	73956736	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26184	73956736	117197540	2631	7739										
AFP	174	hgsc.bcm.edu	37	chr4	74316461	74316461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaactattggcctgtggCgagggagcggtgagtgtctg	17	7	1	1	rs115622472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:74316461C>T	ENST00000395792.2	+	11	1519	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	AFP_ENST00000226359.2_Silent_p.G473G	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	473	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGCCTGTGGCGAGGGAGCGG	0.522									Alpha-Fetoprotein, Hereditary Persistence of				C|||	22	0.00439297	0.0159	0.0014	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.0				p.G473G		Atlas-SNP	.											.	AFP	60	.	0			c.C1419T						PASS	.	C		76,4330	67.6+/-105.2	0,76,2127	156	134	142		1419	-9.9	0.1	4	dbSNP_132	142	3,8597		0,3,4297	no	coding-synonymous	AFP	NM_001134.1		0,79,6424	TT,TC,CC		0.0349,1.7249,0.6074		473/610	74316461	79,12927	2203	4300	6503	SO:0001819	synonymous_variant	174	exon11	Familial Cancer Database	HPAFP	CTGTGGCGAGGGA	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1419C>T	4.37:g.74316461C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	161	70	0.434783	NM_001134	B2RBU3	Silent	SNP	ENST00000395792.2	37	CCDS3556.1																																																																																			C|0.994;T|0.006	0.006	strong		0.522	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			T	74316461	C	T	74316461	2	4	22	1	0	0	0	0	0	0	0	1	363	755	27	1		1	AFP	4	74316461	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	359725	74316461	116837815	2632	7740										
PF4V1	5197	hgsc.bcm.edu	37	chr4	74719624	74719624	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgccccactgcccaactCatgtgagtcctcgcactgca	7	18	1	1	rs34446485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:74719624C>G	ENST00000226524.3	+	2	399	c.225C>G	c.(223-225)ctC>ctG	p.L75L		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	75					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTGCCCAACTCATGTGAGTCC	0.602																																					p.L75L		Atlas-SNP	.											PF4V1,NS,carcinoma,0,1	PF4V1	8	1	0			c.C225G						scavenged	.	C		81,4307	17.9+/-39.9	7,67,2120	66	74	71		225	-2.3	0.1	4	dbSNP_126	71	31,8565	1.2+/-3.3	3,25,4270	no	coding-synonymous	PF4V1	NM_002620.2		10,92,6390	GG,GC,CC		0.3606,1.8459,0.8626		75/105	74719624	112,12872	2194	4298	6492	SO:0001819	synonymous_variant	5197	exon2			CCAACTCATGTGA	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.225C>G	4.37:g.74719624C>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	150	40	0.266667	NM_002620	A1L4S0	Silent	SNP	ENST00000226524.3	37	CCDS3561.1																																																																																			C|0.981;G|0.019	0.019	strong		0.602	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			G	74719624	C	G	74719624	2	3	22	1	0	0	0	0	0	0	0	1	11753	813	29	4		4	PF4V1	4	74719624	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	403163	74719624	116434652	2633	7741										
CXCL1	2919	hgsc.bcm.edu	37	chr4	74735244	74735244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccggctcctgcgagtggcActgctgctcctgctcctggt	12	17	0	0	rs2071425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:74735244A>G	ENST00000395761.3	+	1	124	c.57A>G	c.(55-57)gcA>gcG	p.A19A	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	19					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCGAGTGGCACTGCTGCTCC	0.751													A|||	1893	0.377995	0.5469	0.4265	5008	,	,		11021	0.3859		0.1819	False		,,,				2504	0.3088				p.A19A		Atlas-SNP	.											.	CXCL1	6	.	0			c.A57G						PASS	.	A		1581,2363		323,935,714	6	10	9		57	-2.3	0	4	dbSNP_96	9	1543,6721		156,1231,2745	no	coding-synonymous	CXCL1	NM_001511.2		479,2166,3459	GG,GA,AA		18.6713,40.0862,25.5898		19/108	74735244	3124,9084	1972	4132	6104	SO:0001819	synonymous_variant	2919	exon1			AGTGGCACTGCTG	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.57A>G	4.37:g.74735244A>G		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_001511	Q9UCR7	Silent	SNP	ENST00000395761.3	37	CCDS47074.1																																																																																			A|0.668;G|0.332	0.332	strong		0.751	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			G	74735244	A	G	74735244	2	3	22	1	0	0	0	0	0	0	0	1	4077	146	6	2		2	CXCL1	4	74735244	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15620	74735244	116419032	2634	7742										
PARM1	25849	hgsc.bcm.edu	37	chr4	75937971	75937971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgttggaggaacacagctCgggcactcctgaagcaggcg	14	12	0	1	rs3822109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:75937971C>T	ENST00000307428.7	+	2	592	c.380C>T	c.(379-381)tCg>tTg	p.S127L	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	127			S -> L (in dbSNP:rs3822109). {ECO:0000269|PubMed:11230166}.		positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.S127L(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GAACACAGCTCGGGCACTCCT	0.582													C|||	1666	0.332668	0.2905	0.2767	5008	,	,		20761	0.1617		0.4612	False		,,,				2504	0.4734				p.S127L		Atlas-SNP	.											PARM1_ENST00000307428,NS,carcinoma,0,1	PARM1	52	1	1	Substitution - Missense(1)	stomach(1)	c.C380T						PASS	.	C	LEU/SER	1319,2921		213,893,1014	140	146	144		380	-3.3	0	4	dbSNP_107	144	3658,4810		809,2040,1385	yes	missense	PARM1	NM_015393.3	145	1022,2933,2399	TT,TC,CC		43.1979,31.1085,39.1643	benign	127/311	75937971	4977,7731	2120	4234	6354	SO:0001583	missense	25849	exon2			ACAGCTCGGGCAC	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.380C>T	4.37:g.75937971C>T	ENSP00000370224:p.Ser127Leu	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	165	83	0.50303	NM_015393	B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	CCDS47077.1	698	0.31959706959706957	142	0.2886178861788618	99	0.27348066298342544	88	0.15384615384615385	369	0.4868073878627968	C	8.244	0.807576	0.16467	0.311085	0.431979	ENSG00000169116	ENST00000307428	T	0.47869	0.83	5.34	-3.27	0.05048	.	1.740060	0.02914	N	0.137058	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39542	-0.9609	9	0.20519	T	0.43	7.3413	2.3283	0.04228	0.1265:0.2844:0.1241:0.465	rs3822109;rs17196707;rs52813318;rs59916458;rs3822109	127	Q6UWI2	PARM1_HUMAN	L	127	ENSP00000370224:S127L	ENSP00000370224:S127L	S	+	2	0	PARM1	76156995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.478000	0.06575	-1.309000	0.02315	-0.993000	0.02533	TCG	C|0.691;T|0.309	0.309	strong		0.582	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		T	75937971	C	T	75937971	3	4	22	1	0	0	0	0	1	0	0	0	11452	893	31	1	386	1	PARM1	4	75937971	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1202727	75937971	115216305	2635	7743										
PARM1	25849	hgsc.bcm.edu	37	chr4	75938179	75938179	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaactgcaccagagtccccGacagaggagtccagctctga	10	15	1	3	rs3775527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:75938179G>A	ENST00000307428.7	+	2	800	c.588G>A	c.(586-588)ccG>ccA	p.P196P	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	196					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.P196P(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGAGTCCCCGACAGAGGAGT	0.567													G|||	1599	0.319289	0.2542	0.2637	5008	,	,		19672	0.1627		0.4523	False		,,,				2504	0.4714				p.P196P		Atlas-SNP	.											PARM1_ENST00000307428,NS,carcinoma,0,1	PARM1	52	1	1	Substitution - coding silent(1)	stomach(1)	c.G588A						PASS	.	G		1183,3093		180,823,1135	161	175	171		588	-5	0	4	dbSNP_107	171	3600,4922		772,2056,1433	no	coding-synonymous	PARM1	NM_015393.3		952,2879,2568	AA,AG,GG		42.2436,27.666,37.373		196/311	75938179	4783,8015	2138	4261	6399	SO:0001819	synonymous_variant	25849	exon2			GTCCCCGACAGAG	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.588G>A	4.37:g.75938179G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	160	97	0.60625	NM_015393	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																			G|0.698;A|0.302	0.302	strong		0.567	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		A	75938179	G	A	75938179	2	1	22	1	0	0	0	0	0	0	0	1	11452	1045	37	1		1	PARM1	4	75938179	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	208	75938179	115216097	2636	7744										
PARM1	25849	hgsc.bcm.edu	37	chr4	75938236	75938236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccacagctgagccagtAccccaggagaaaacaccccc	8	17	0	2	rs1062293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:75938236A>G	ENST00000307428.7	+	2	857	c.645A>G	c.(643-645)gtA>gtG	p.V215V	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	215					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.V215V(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTGAGCCAGTACCCCAGGAGA	0.572													G|||	2072	0.413738	0.4244	0.3473	5008	,	,		19214	0.2143		0.5338	False		,,,				2504	0.5286				p.V215V		Atlas-SNP	.											PARM1_ENST00000307428,NS,carcinoma,0,1	PARM1	52	1	1	Substitution - coding silent(1)	stomach(1)	c.A645G						scavenged	.	G		1816,2422		414,988,717	109	119	116		645	4.6	0	4	dbSNP_86	116	4211,4267		1041,2129,1069	no	coding-synonymous	PARM1	NM_015393.3		1455,3117,1786	GG,GA,AA		49.6697,42.8504,47.397		215/311	75938236	6027,6689	2119	4239	6358	SO:0001819	synonymous_variant	25849	exon2			GCCAGTACCCCAG	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.645A>G	4.37:g.75938236A>G		Somatic	163	2	0.0122699		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_015393	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																			A|0.598;G|0.402	0.402	strong		0.572	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		G	75938236	A	G	75938236	2	3	22	1	0	0	0	0	0	0	0	1	11452	378	14	2		2	PARM1	4	75938236	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	57	75938236	115216040	2637	7745										
PPEF2	5470	hgsc.bcm.edu	37	chr4	76788564	76788564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagccgactcctccactCtgctaatcctgggacaggag	10	14	2	1	rs34155925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:76788564C>T	ENST00000286719.7	-	14	2014	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	553			R -> K (in dbSNP:rs34155925).		detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCCTCCACTCTGCTAATCCT	0.403													C|||	639	0.127596	0.4531	0.0346	5008	,	,		19539	0.0079		0.002	False		,,,				2504	0.0061				p.R553K	NSCLC(105;1359 1603 15961 44567 47947)	Atlas-SNP	.											.	PPEF2	108	.	0			c.G1658A						PASS	.	C	LYS/ARG	1783,2623	524.1+/-371.2	357,1069,777	55	57	57		1658	4.3	1	4	dbSNP_126	57	21,8579	14.0+/-48.4	0,21,4279	yes	missense	PPEF2	NM_006239.2	26	357,1090,5056	TT,TC,CC		0.2442,40.4675,13.8705	benign	553/754	76788564	1804,11202	2203	4300	6503	SO:0001583	missense	5470	exon14			TCCACTCTGCTAA	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1658G>A	4.37:g.76788564C>T	ENSP00000286719:p.Arg553Lys	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	136	66	0.485294	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	251	0.11492673992673992	239	0.48577235772357724	9	0.024861878453038673	2	0.0034965034965034965	1	0.0013192612137203166	C	12.33	1.906038	0.33628	0.404675	0.002442	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05081	3.5	6.04	4.31	0.51392	.	4.318100	0.00508	N	0.000165	T	0.00012	0.0000	L	0.55990	1.75	0.21627	P	0.999610337	B;B	0.30146	0.27;0.031	B;B	0.41946	0.371;0.015	T	0.47611	-0.9104	9	0.46703	T	0.11	1.3252	5.7123	0.17941	0.0:0.6724:0.1619:0.1657	rs34155925;rs57342715	553;553	O14830-2;O14830	.;PPE2_HUMAN	K	553	ENSP00000286719:R553K	ENSP00000286719:R553K	R	-	2	0	PPEF2	77007588	0.978000	0.34361	1.000000	0.80357	0.979000	0.70002	1.205000	0.32308	1.571000	0.49722	0.561000	0.74099	AGA	C|0.877;T|0.123	0.123	strong		0.403	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		T	76788564	C	T	76788564	3	4	22	1	0	0	0	0	1	0	0	0	12308	913	32	2	619	2	PPEF2	4	76788564	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	850328	76788564	114365712	2638	7746										
PPEF2	5470	hgsc.bcm.edu	37	chr4	76797551	76797551	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaccaggaggcctgcttgCtgccggcaccgctctagctc	12	16	2	0	rs370312706		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:76797551C>G	ENST00000286719.7	-	11	1565	c.1209G>C	c.(1207-1209)caG>caC	p.Q403H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	403	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCCTGCTTGCTGCCGGCACC	0.677																																					p.Q403H	NSCLC(105;1359 1603 15961 44567 47947)	Atlas-SNP	.											.	PPEF2	108	.	0			c.G1209C						PASS	.						29	32	31					4																	76797551		2203	4300	6503	SO:0001583	missense	5470	exon11			TGCTTGCTGCCGG	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1209G>C	4.37:g.76797551C>G	ENSP00000286719:p.Gln403His	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	86	40	0.465116	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738539	0.30774	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.41758	0.99	4.94	3.21	0.36854	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	1.466720	0.04609	N	0.399943	T	0.43100	0.1232	L	0.41236	1.265	0.25277	N	0.989465	P;P	0.41569	0.755;0.6	P;B	0.44946	0.465;0.382	T	0.29640	-1.0005	10	0.33940	T	0.23	0.0283	9.0738	0.36508	0.0:0.8174:0.0:0.1826	.	403;403	O14830-2;O14830	.;PPE2_HUMAN	H	403	ENSP00000286719:Q403H	ENSP00000286719:Q403H	Q	-	3	2	PPEF2	77016575	0.764000	0.28473	0.014000	0.15608	0.095000	0.18619	2.772000	0.47678	0.510000	0.28216	-0.339000	0.08088	CAG	.	.	alt		0.677	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		G	76797551	C	G	76797551	3	3	22	1	0	0	0	0	1	0	0	0	12308	796	28	4	1080	4	PPEF2	4	76797551	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8987	76797551	114356725	2639	7747										
PPEF2	5470	hgsc.bcm.edu	37	chr4	76811175	76811175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggagtgggaaggagaggcGtggccccgtgtaactgtcgg	19	8	0	1	rs28436183	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:76811175G>T	ENST00000286719.7	-	5	708	c.352C>A	c.(352-354)Cgc>Agc	p.R118S	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797). {ECO:0000305}.	detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGGAGAGGCGTGGCCCCGTG	0.537													G|||	486	0.0970447	0.1301	0.0937	5008	,	,		20469	0.0079		0.1571	False		,,,				2504	0.0849				p.R118S	NSCLC(105;1359 1603 15961 44567 47947)	Atlas-SNP	.											.	PPEF2	108	.	0			c.C352A						PASS	.	G	SER/ARG	458,3948	218.4+/-236.5	41,376,1786	248	216	227		352	4.8	1	4	dbSNP_125	227	1456,7144	277.8+/-293.0	135,1186,2979	yes	missense	PPEF2	NM_006239.2	110	176,1562,4765	TT,TG,GG		16.9302,10.3949,14.7163	probably-damaging	118/754	76811175	1914,11092	2203	4300	6503	SO:0001583	missense	5470	exon5			AGAGGCGTGGCCC	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.352C>A	4.37:g.76811175G>T	ENSP00000286719:p.Arg118Ser	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	269	126	0.468401	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	229	0.10485347985347986	73	0.1483739837398374	33	0.09116022099447514	6	0.01048951048951049	117	0.15435356200527706	G	20.1	3.938625	0.73557	0.103949	0.169302	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.48522	0.81	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.00300	0.0009	M	0.84948	2.725	0.25320	P	0.9891248	B;P	0.45902	0.427;0.868	B;P	0.47075	0.171;0.536	T	0.17561	-1.0365	9	0.72032	D	0.01	-1.5701	15.3613	0.74478	0.0:0.0:1.0:0.0	rs28436183	118;118	O14830-2;O14830	.;PPE2_HUMAN	S	118	ENSP00000286719:R118S	ENSP00000286719:R118S	R	-	1	0	PPEF2	77030199	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	9.230000	0.95299	2.227000	0.72691	0.313000	0.20887	CGC	G|0.859;T|0.141	0.141	strong		0.537	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		T	76811175	G	T	76811175	3	4	22	1	0	0	0	0	1	0	0	0	12308	1145	40	4	1961	4	PPEF2	4	76811175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13624	76811175	114343101	2640	7748										
SDAD1	55153	hgsc.bcm.edu	37	chr4	76878716	76878716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgtatttcctcttctggGatttcccgggggcagcatca	10	11	3	0	rs2242471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:76878716G>C	ENST00000356260.5	-	19	1842	c.1724C>G	c.(1723-1725)tCc>tGc	p.S575C	SDAD1_ENST00000395711.4_Missense_Mutation_p.S538C|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	575			S -> C (in dbSNP:rs2242471). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCTTCTGGGATTTCCCGGG	0.458													G|||	1397	0.278954	0.2368	0.2089	5008	,	,		19049	0.0734		0.4225	False		,,,				2504	0.4499				p.S575C		Atlas-SNP	.											.	SDAD1	47	.	0			c.C1724G						PASS	.	G	CYS/SER	1104,3302	396.5+/-330.1	135,834,1234	137	138	138		1724	5.2	1	4	dbSNP_98	138	3365,5235	500.1+/-375.1	629,2107,1564	yes	missense	SDAD1	NM_018115.2	112	764,2941,2798	CC,CG,GG		39.1279,25.0567,34.3611	possibly-damaging	575/688	76878716	4469,8537	2203	4300	6503	SO:0001583	missense	55153	exon19			TTCTGGGATTTCC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1724C>G	4.37:g.76878716G>C	ENSP00000348596:p.Ser575Cys	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	233	121	0.519313	NM_018115	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	552	0.25274725274725274	107	0.21747967479674796	83	0.2292817679558011	37	0.06468531468531469	325	0.4287598944591029	G	17.93	3.509480	0.64522	0.250567	0.391279	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.86432	1.89;-2.12	5.15	5.15	0.70609	SDA1 (1);	0.161367	0.56097	D	0.000037	T	0.00012	0.0000	L	0.46157	1.445	0.35218	P	0.22419699999999998	P;P	0.51057	0.941;0.602	P;B	0.49477	0.612;0.312	T	0.00888	-1.1526	9	0.59425	D	0.04	-4.1951	16.483	0.84163	0.0:0.0:1.0:0.0	rs2242471;rs3201420;rs11557433;rs17288280;rs52806783;rs2242471	538;575	E7EW05;Q9NVU7	.;SDA1_HUMAN	C	575;538	ENSP00000348596:S575C;ENSP00000379061:S538C	ENSP00000348596:S575C	S	-	2	0	SDAD1	77097740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.973000	0.56845	2.581000	0.87130	0.650000	0.86243	TCC	G|0.688;C|0.312	0.312	strong		0.458	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		C	76878716	G	C	76878716	3	2	22	1	0	0	0	0	1	0	0	0	13950	1174	41	4	355	4	SDAD1	4	76878716	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67541	76878716	114275560	2641	7749										
NUP54	53371	hgsc.bcm.edu	37	chr4	77069474	77069474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcacccgcgggggccgcGgtggctgcagcggtaccgga	17	15	1	0	rs35442986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77069474G>A	ENST00000264883.3	-	1	194	c.54C>T	c.(52-54)acC>acT	p.T18T	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000514987.1_Silent_p.T18T|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	18	9 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CGGGGGCCGCGGTGGCTGCAG	0.662													G|||	462	0.0922524	0.2867	0.0288	5008	,	,		15198	0.0556		0.003	False		,,,				2504	0.0041				p.T18T		Atlas-SNP	.											.	NUP54	48	.	0			c.C54T						PASS	.	G		827,3543		93,641,1451	14	19	18		54	3	1	4	dbSNP_126	18	13,8571		0,13,4279	no	coding-synonymous	NUP54	NM_017426.2		93,654,5730	AA,AG,GG		0.1514,18.9245,6.4845		18/508	77069474	840,12114	2185	4292	6477	SO:0001819	synonymous_variant	53371	exon1			GGCCGCGGTGGCT	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.54C>T	4.37:g.77069474G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	220	115	0.522727	NM_017426	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	ENST00000264883.3	37	CCDS3576.1																																																																																			G|0.914;A|0.086	0.086	strong		0.662	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			A	77069474	G	A	77069474	2	1	22	1	0	0	0	0	0	0	0	1	10767	1103	39	1		1	NUP54	4	77069474	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190758	77069474	114084802	2642	7750										
SCARB2	950	hgsc.bcm.edu	37	chr4	77102148	77102148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaattaagtcaattttagGgtctccaacagattggtctc	7	8	4	1	rs143558324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77102148G>C	ENST00000264896.2	-	3	731	c.382C>G	c.(382-384)Cct>Gct	p.P128A	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	128					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TCAATTTTAGGGTCTCCAACA	0.323													G|||	6	0.00119808	0.0045	0.0	5008	,	,		15540	0.0		0.0	False		,,,				2504	0.0				p.P128A		Atlas-SNP	.											.	SCARB2	47	.	0			c.C382G						PASS	.	G	,ALA/PRO	19,4383	26.2+/-53.5	0,19,2182	103	104	104		,382	3.2	0.9	4	dbSNP_134	104	0,8598		0,0,4299	yes	intron,missense	SCARB2	NM_001204255.1,NM_005506.3	,27	0,19,6481	CC,CG,GG		0.0,0.4316,0.1462	,benign	,128/479	77102148	19,12981	2201	4299	6500	SO:0001583	missense	950	exon3			TTTTAGGGTCTCC	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.382C>G	4.37:g.77102148G>C	ENSP00000264896:p.Pro128Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	61	33	0.540984	NM_005506	B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857612	0.32791	0.004316	0.0	ENSG00000138760	ENST00000264896	T	0.72282	-0.64	5.87	3.17	0.36434	.	0.189182	0.64402	N	0.000018	T	0.75034	0.3795	M	0.71206	2.165	0.80722	D	1	B	0.29481	0.245	B	0.43575	0.424	T	0.66697	-0.5858	10	0.09590	T	0.72	.	16.5946	0.84792	0.0:0.3673:0.6327:0.0	.	128	Q14108	SCRB2_HUMAN	A	128	ENSP00000264896:P128A	ENSP00000264896:P128A	P	-	1	0	SCARB2	77321172	1.000000	0.71417	0.946000	0.38457	0.282000	0.26991	3.001000	0.49488	0.452000	0.26830	-0.176000	0.13171	CCT	G|0.999;C|0.001	0.001	strong		0.323	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		C	77102148	G	C	77102148	3	2	22	1	0	0	0	0	1	0	0	0	13882	1232	43	4	1094	4	SCARB2	4	77102148	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32674	77102148	114052128	2643	7751										
CCDC158	339965	hgsc.bcm.edu	37	chr4	77288833	77288833	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcttggctgtcaactcttCtactactttgcgcagcatct	6	12	5	0	rs17001824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77288833C>T	ENST00000388914.3	-	11	1596	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	482										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTCAACTCTTCTACTACTTTG	0.453													C|||	103	0.0205671	0.0734	0.0086	5008	,	,		19288	0.0		0.0	False		,,,				2504	0.0				p.E482K		Atlas-SNP	.											.	CCDC158	114	.	0			c.G1444A						PASS	.	C	LYS/GLU	235,3573		12,211,1681	72	70	70		1444	5.7	1	4	dbSNP_123	70	8,8232		1,6,4113	yes	missense	CCDC158	NM_001042784.1	56	13,217,5794	TT,TC,CC		0.0971,6.1712,2.0169	possibly-damaging	482/1114	77288833	243,11805	1904	4120	6024	SO:0001583	missense	339965	exon11			ACTCTTCTACTAC	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1444G>A	4.37:g.77288833C>T	ENSP00000373566:p.Glu482Lys	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	C	26.5	4.747697	0.89663	0.061712	9.71E-4	ENSG00000163749	ENST00000388914	T	0.78364	-1.17	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000019	T	0.36826	0.0981	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.66077	-0.6013	9	.	.	.	.	17.6416	0.88138	0.0:1.0:0.0:0.0	rs17001824;rs17001824	482	Q5M9N0	CD158_HUMAN	K	482	ENSP00000373566:E482K	.	E	-	1	0	CCDC158	77507857	0.999000	0.42202	0.963000	0.40424	0.995000	0.86356	5.178000	0.65037	2.711000	0.92665	0.563000	0.77884	GAA	C|0.981;T|0.019	0.019	strong		0.453	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77288833	C	T	77288833	3	4	22	1	0	0	0	0	1	0	0	0	2790	922	32	2	1953	2	CCDC158	4	77288833	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	186685	77288833	113865443	2644	7752										
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77476809	77476809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagctccaaactgcaggcTggggatgaggttgtgcacat	14	9	0	2	rs75039400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77476809T>C	ENST00000296043.6	+	2	1169	c.216T>C	c.(214-216)gcT>gcC	p.A72A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	72	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AACTGCAGGCTGGGGATGAGG	0.577													C|||	84	0.0167732	0.0628	0.0014	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0				p.A72A		Atlas-SNP	.											.	SHROOM3	134	.	0			c.T216C						PASS	.	C		219,4187	806.1+/-415.8	4,211,1988	110	105	107		216	-7.1	0	4	dbSNP_131	107	3,8597	819.2+/-406.8	0,3,4297	no	coding-synonymous	SHROOM3	NM_020859.3		4,214,6285	CC,CT,TT		0.0349,4.9705,1.7069		72/1997	77476809	222,12784	2203	4300	6503	SO:0001819	synonymous_variant	57619	exon2			GCAGGCTGGGGAT	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.216T>C	4.37:g.77476809T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	95	40	0.421053	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																			T|0.980;C|0.020	0.020	strong		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		C	77476809	T	C	77476809	2	2	22	1	0	0	0	0	0	0	0	1	14295	1567	55	3		3	SHROOM3	4	77476809	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	187976	77476809	113677467	2645	7753										
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77660550	77660550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcctggtctagccttgaTcagaaacggctctgccggcc	11	14	3	2	rs61745983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77660550T>C	ENST00000296043.6	+	5	2177	c.1224T>C	c.(1222-1224)gaT>gaC	p.D408D		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	408					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTAGCCTTGATCAGAAACGGC	0.577													T|||	94	0.01877	0.0681	0.0058	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0				p.D408D		Atlas-SNP	.											.	SHROOM3	134	.	0			c.T1224C						PASS	.	T		262,4144	146.1+/-180.8	7,248,1948	45	45	45		1224	-1.7	1	4	dbSNP_129	45	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	SHROOM3	NM_020859.3		7,249,6247	CC,CT,TT		0.0116,5.9464,2.0221		408/1997	77660550	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	57619	exon5			CCTTGATCAGAAA	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1224T>C	4.37:g.77660550T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	132	58	0.439394	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																			T|0.978;C|0.022	0.022	strong		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		C	77660550	T	C	77660550	2	2	22	1	0	0	0	0	0	0	0	1	14295	1432	50	2		2	SHROOM3	4	77660550	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	183741	77660550	113493726	2646	7754										
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77817362	77817362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctctgcaagttttagtgaTaaacctgcatcaacccttgg	7	11	2	1	rs2703131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77817362T>C	ENST00000334306.2	-	1	1640	c.1641A>G	c.(1639-1641)ttA>ttG	p.L547L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	547																	GTTTTAGTGATAAACCTGCAT	0.617													T|||	975	0.194688	0.2216	0.1844	5008	,	,		18462	0.0873		0.2366	False		,,,				2504	0.2331				p.L547L		Atlas-SNP	.											.	.	.	.	0			c.A1641G						PASS	.	T		889,3517	343.6+/-307.7	97,695,1411	45	47	46		1641	2.3	0	4	dbSNP_100	46	1850,6750	329.6+/-318.8	188,1474,2638	no	coding-synonymous	ANKRD56	NM_001029870.1		285,2169,4049	CC,CT,TT		21.5116,20.177,21.0595		547/794	77817362	2739,10267	2203	4300	6503	SO:0001819	synonymous_variant	345079	exon1			TAGTGATAAACCT		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1641A>G	4.37:g.77817362T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_001029870	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.804;C|0.196	0.196	strong		0.617	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77817362	T	C	77817362	2	2	22	1	0	0	0	0	0	0	0	1	682	1403	49	2		2	ANKRD56	4	77817362	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	156812	77817362	113336914	2647	7755										
CCNI	10983	hgsc.bcm.edu	37	chr4	77976374	77976374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctccatttccagactaaCcatggccagagcaagcatgg	8	12	1	2	rs4252903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:77976374C>T	ENST00000237654.4	-	6	1195	c.619G>A	c.(619-621)Gtt>Att	p.V207I	CCNI_ENST00000537948.1_Missense_Mutation_p.V193I|CCNI_ENST00000504697.1_5'Flank	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	207			V -> I (in dbSNP:rs4252903). {ECO:0000269|Ref.4}.		regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TCCAGACTAACCATGGCCAGA	0.438													C|||	38	0.00758786	0.0287	0.0	5008	,	,		16139	0.0		0.0	False		,,,				2504	0.0				p.V207I		Atlas-SNP	.											.	CCNI	22	.	0			c.G619A						PASS	.	C	ILE/VAL	99,4307	79.3+/-117.8	2,95,2106	113	101	105		619	2.2	1	4	dbSNP_111	105	1,8599		0,1,4299	yes	missense	CCNI	NM_006835.2	29	2,96,6405	TT,TC,CC		0.0116,2.2469,0.7689	benign	207/378	77976374	100,12906	2203	4300	6503	SO:0001583	missense	10983	exon6			GACTAACCATGGC	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.619G>A	4.37:g.77976374C>T	ENSP00000237654:p.Val207Ile	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	220	102	0.463636	NM_006835	B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	CCDS3580.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	5.722	0.317763	0.10845	0.022469	1.16E-4	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.13657	2.57;2.57	5.87	2.22	0.28083	Cyclin-like (1);	0.328648	0.36268	N	0.002681	T	0.02083	0.0065	N	0.04959	-0.14	0.37675	D	0.92327	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.36335	-0.9752	10	0.07030	T	0.85	-3.5062	6.2538	0.20861	0.0:0.6096:0.1228:0.2676	rs4252903;rs52822018;rs4252903	193;207	B7Z6X4;Q14094	.;CCNI_HUMAN	I	207;193	ENSP00000237654:V207I;ENSP00000441001:V193I	ENSP00000237654:V207I	V	-	1	0	CCNI	78195398	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	0.319000	0.19522	0.484000	0.27630	0.655000	0.94253	GTT	C|0.992;T|0.008	0.008	strong		0.438	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		T	77976374	C	T	77976374	3	4	22	1	0	0	0	0	1	0	0	0	2926	507	18	2	522	2	CCNI	4	77976374	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159012	77976374	113177902	2648	7756										
CCNG2	901	hgsc.bcm.edu	37	chr4	78079768	78079768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacgtctacctggaacaagAagagagattccaacctcgag	10	10	1	3	rs4150051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:78079768A>G	ENST00000316355.5	+	2	439	c.83A>G	c.(82-84)gAa>gGa	p.E28G	CCNG2_ENST00000354403.5_Missense_Mutation_p.E28G|CCNG2_ENST00000395640.1_Missense_Mutation_p.E28G|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.E28G|CCNG2_ENST00000502280.1_Missense_Mutation_p.E28G	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	28			E -> G (in dbSNP:rs4150051). {ECO:0000269|Ref.3}.		cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGGAACAAGAAGAGAGATTC	0.502													A|||	22	0.00439297	0.0144	0.0043	5008	,	,		16831	0.0		0.0	False		,,,				2504	0.0				p.E28G		Atlas-SNP	.											.	CCNG2	27	.	0			c.A83G						PASS	.	A	GLY/GLU	67,4339	62.3+/-99.4	2,63,2138	112	112	112		83	5.6	1	4	dbSNP_110	112	1,8599		0,1,4299	yes	missense	CCNG2	NM_004354.2	98	2,64,6437	GG,GA,AA		0.0116,1.5207,0.5228	probably-damaging	28/345	78079768	68,12938	2203	4300	6503	SO:0001583	missense	901	exon2			AACAAGAAGAGAG	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.83A>G	4.37:g.78079768A>G	ENSP00000315743:p.Glu28Gly	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	125	61	0.488	NM_004354	B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	CCDS3581.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	24.2	4.508863	0.85282	0.015207	1.16E-4	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;1.69;1.69	5.57	5.57	0.84162	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.88979	2.995	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78046	-0.2357	10	0.87932	D	0	-16.452	15.3858	0.74699	1.0:0.0:0.0:0.0	rs4150051	28;28	B4DF25;Q16589	.;CCNG2_HUMAN	G	28	ENSP00000315743:E28G;ENSP00000346379:E28G;ENSP00000424665:E28G;ENSP00000379002:E28G;ENSP00000426085:E28G;ENSP00000426476:E28G	ENSP00000315743:E28G	E	+	2	0	CCNG2	78298792	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.252000	0.78309	2.126000	0.65437	0.459000	0.35465	GAA	A|0.996;G|0.004	0.004	strong		0.502	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		G	78079768	A	G	78079768	3	3	22	1	0	0	0	0	1	0	0	0	2924	246	9	2	85	2	CCNG2	4	78079768	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	103394	78079768	113074508	2649	7757										
FRAS1	80144	hgsc.bcm.edu	37	chr4	78987157	78987157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgcttgtgtctatcaggAttccttgttggcggtaggtc	14	7	2	0	rs4859905	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:78987157A>G	ENST00000325942.6	+	2	535	c.95A>G	c.(94-96)gAt>gGt	p.D32G	FRAS1_ENST00000264895.6_Missense_Mutation_p.D32G|FRAS1_ENST00000264899.6_Missense_Mutation_p.D32G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	32	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.		D -> G (in dbSNP:rs4859905).		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						GTCTATCAGGATTCCTTGTTG	0.408													G|||	2762	0.551518	0.7519	0.4654	5008	,	,		18692	0.5407		0.4195	False		,,,				2504	0.4888				p.D32G		Atlas-SNP	.											.	FRAS1	779	.	0			c.A95G						PASS	.	G	GLY/ASP,GLY/ASP	2527,1199		884,759,220	232	215	220		95,95	5.9	1	4	dbSNP_111	220	3285,4913		664,1957,1478	yes	missense,missense	FRAS1	NM_001166133.1,NM_025074.6	94,94	1548,2716,1698	GG,GA,AA		40.0707,32.1793,48.742	benign,benign	32/1977,32/4013	78987157	5812,6112	1863	4099	5962	SO:0001583	missense	80144	exon2			ATCAGGATTCCTT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.95A>G	4.37:g.78987157A>G	ENSP00000326330:p.Asp32Gly	Somatic	402	1	0.00248756		WXS	Illumina HiSeq	Phase_I	394	182	0.461929	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	1127	0.5160256410256411	352	0.7154471544715447	173	0.47790055248618785	301	0.5262237762237763	301	0.3970976253298153	G	5.385	0.256325	0.10185	0.678207	0.400707	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674	T;T;T	0.56611	0.45;0.45;0.45	5.9	5.9	0.94986	.	0.162317	0.41194	N	0.000924	T	0.00012	0.0000	.	.	.	0.45261	P	0.0017329999999999846	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35201	-0.9798	8	0.02654	T	1	.	12.5489	0.56216	0.0777:0.0:0.9222:0.0	rs4859905;rs58160615;rs4859905	32;32	E9PHH6;A2RRR8	.;.	G	32	ENSP00000326330:D32G;ENSP00000264895:D32G;ENSP00000264899:D32G	ENSP00000264895:D32G	D	+	2	0	FRAS1	79206181	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.691000	0.47010	1.517000	0.48917	-0.213000	0.12676	GAT	A|0.473;G|0.527	0.527	strong		0.408	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	78987157	A	G	78987157	3	3	22	1	0	0	0	0	1	0	0	0	6042	333	12	2	101	2	FRAS1	4	78987157	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	907389	78987157	112167119	2650	7758										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79229302	79229302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcccctccacgtgctgagAgatggcggctgtgagagcag	15	11	0	3	rs345528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79229302A>G	ENST00000325942.6	+	15	2057	c.1617A>G	c.(1615-1617)agA>agG	p.R539R	FRAS1_ENST00000264895.6_Silent_p.R539R|FRAS1_ENST00000264899.6_Silent_p.R539R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	539					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						ACGTGCTGAGAGATGGCGGCT	0.577													A|||	677	0.135184	0.4387	0.0447	5008	,	,		16917	0.0377		0.003	False		,,,				2504	0.0256				p.R539R		Atlas-SNP	.											.	FRAS1	779	.	0			c.A1617G						PASS	.	A	,	1476,2842		246,984,929	73	81	78		1617,1617	-3	0.5	4	dbSNP_79	78	62,8448		1,60,4194	no	coding-synonymous,coding-synonymous	FRAS1	NM_001166133.1,NM_025074.6	,	247,1044,5123	GG,GA,AA		0.7286,34.1825,11.9894	,	539/1977,539/4013	79229302	1538,11290	2159	4255	6414	SO:0001819	synonymous_variant	80144	exon15			GCTGAGAGATGGC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1617A>G	4.37:g.79229302A>G		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	247	244	0.987854	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	256|256	0.11721611721611722|0.11721611721611722	215|215	0.4369918699186992|0.4369918699186992	18|18	0.049723756906077346|0.049723756906077346	22|22	0.038461538461538464|0.038461538461538464	1|1	0.0013192612137203166|0.0013192612137203166	A|A	0.991|0.991	-0.694105|-0.694105	0.03303|0.03303	0.341825|0.341825	0.007286|0.007286	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|T	.|0.46451	.|0.87	5.57|5.57	-3.05|-3.05	0.05396|0.05396	.|.	.|0.189453	.|0.47455	.|D	.|0.000233	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.23515|0.23515	P|P	0.99751295|0.99751295	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37798|0.37798	-0.9690|-0.9690	3|5	.|.	.|.	.|.	.|.	12.555|12.555	0.56248|0.56248	0.4432:0.0:0.5568:0.0|0.4432:0.0:0.5568:0.0	rs345528;rs57052525;rs345528|rs345528;rs57052525;rs345528	.|.	.|.	.|.	G|G	468|382	.|ENSP00000423809:R382G	.|.	E|R	+|+	2|1	0|2	FRAS1|FRAS1	79448326|79448326	1.000000|1.000000	0.71417|0.71417	0.521000|0.521000	0.27850|0.27850	0.014000|0.014000	0.08584|0.08584	0.688000|0.688000	0.25422|0.25422	-0.646000|-0.646000	0.05452|0.05452	-0.462000|-0.462000	0.05337|0.05337	GAG|AGA	A|0.864;G|0.136	0.136	strong		0.577	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79229302	A	G	79229302	2	3	22	1	0	0	0	0	0	0	0	1	6042	301	11	3		3	FRAS1	4	79229302	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	242145	79229302	111924974	2651	7759										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79351542	79351542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgtgcttcttaagcataCagctgagttccgaaggccga	12	9	1	1	rs34271211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79351542C>T	ENST00000325942.6	+	37	5380	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1647I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1647					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						CTTAAGCATACAGCTGAGTTC	0.498													C|||	41	0.0081869	0.031	0.0	5008	,	,		19131	0.0		0.0	False		,,,				2504	0.0				p.T1647I		Atlas-SNP	.											.	FRAS1	779	.	0			c.C4940T						PASS	.	C	ILE/THR,ILE/THR	123,3785		2,119,1833	59	61	61		4940,4940	4	0	4	dbSNP_126	61	0,8324		0,0,4162	yes	missense,missense	FRAS1	NM_001166133.1,NM_025074.6	89,89	2,119,5995	TT,TC,CC		0.0,3.1474,1.0056	possibly-damaging,possibly-damaging	1647/1977,1647/4013	79351542	123,12109	1954	4162	6116	SO:0001583	missense	80144	exon37			AGCATACAGCTGA	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4940C>T	4.37:g.79351542C>T	ENSP00000326330:p.Thr1647Ile	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	C	13.88	2.368547	0.42003	0.031474	0.0	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.26810	1.71;1.71	5.68	3.98	0.46160	.	0.367128	0.29307	N	0.012540	T	0.04272	0.0118	L	0.57536	1.79	0.09310	N	1	P;P	0.47302	0.565;0.893	B;B	0.39876	0.205;0.312	T	0.10613	-1.0622	10	0.20046	T	0.44	.	2.3609	0.04307	0.2218:0.458:0.1775:0.1427	rs34271211	1647;1647	E9PHH6;A2RRR8	.;.	I	1647;1647;67	ENSP00000326330:T1647I;ENSP00000264895:T1647I	ENSP00000264895:T1647I	T	+	2	0	FRAS1	79570566	0.019000	0.18553	0.003000	0.11579	0.001000	0.01503	2.837000	0.48191	0.883000	0.36040	-0.229000	0.12294	ACA	C|0.992;T|0.008	0.008	strong		0.498	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79351542	C	T	79351542	3	4	22	1	0	0	0	0	1	0	0	0	6042	478	17	2	5086	2	FRAS1	4	79351542	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122240	79351542	111802734	2652	7760										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79396610	79396610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctacaatgtcagtgagaaGgcagggtctgtcagtgtcac	13	8	4	1	rs79849142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79396610G>A	ENST00000264895.6	+	54	8141	c.7701G>A	c.(7699-7701)aaG>aaA	p.K2567K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2567	Calx-beta 1.				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						TCAGTGAGAAGGCAGGGTCTG	0.502													G|||	149	0.0297524	0.1074	0.0101	5008	,	,		22558	0.0		0.0	False		,,,				2504	0.0				p.K2567K		Atlas-SNP	.											.	FRAS1	779	.	0			c.G7701A						PASS	.	G		324,3850		17,290,1780	117	129	125		7701	1.3	1	4	dbSNP_132	125	3,8441		0,3,4219	no	coding-synonymous	FRAS1	NM_025074.6		17,293,5999	AA,AG,GG		0.0355,7.7623,2.5915		2567/4013	79396610	327,12291	2087	4222	6309	SO:0001819	synonymous_variant	80144	exon54			TGAGAAGGCAGGG	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.7701G>A	4.37:g.79396610G>A		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	220	110	0.5	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	44	0.020146520146520148	41	0.08333333333333333	3	0.008287292817679558	0	0.0	0	0.0	G	9.007	0.981435	0.18812	0.077623	3.55E-4	ENSG00000138759	ENST00000512123	.	.	.	5.44	1.34	0.21922	.	.	.	.	.	T	0.02970	0.0088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03761	-1.1006	4	.	.	.	.	1.7426	0.02955	0.3312:0.1357:0.4093:0.1237	.	.	.	.	S	796	.	.	G	+	1	0	FRAS1	79615634	0.990000	0.36364	0.999000	0.59377	0.994000	0.84299	0.287000	0.18920	0.212000	0.20703	0.591000	0.81541	GGC	G|0.984;A|0.016	0.016	strong		0.502	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79396610	G	A	79396610	2	1	22	1	0	0	0	0	0	0	0	1	6042	991	35	2		2	FRAS1	4	79396610	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45068	79396610	111757666	2653	7761										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79432455	79432455	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcatttacttcagccggAggttccatgtgcgttgtgtg	12	9	1	0	rs3749488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79432455A>C	ENST00000264895.6	+	64	10248	c.9808A>C	c.(9808-9810)Agg>Cgg	p.R3270R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3266					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						CTTCAGCCGGAGGTTCCATGT	0.488													A|||	2026	0.404553	0.4455	0.2925	5008	,	,		20972	0.4554		0.2674	False		,,,				2504	0.5174				p.R3270R		Atlas-SNP	.											.	FRAS1	779	.	0			c.A9808C						PASS	.	A		1642,2560		339,964,798	127	126	126		9808	-0.3	1	4	dbSNP_107	126	2109,6351		266,1577,2387	no	coding-synonymous	FRAS1	NM_025074.6		605,2541,3185	CC,CA,AA		24.9291,39.0766,29.6241		3270/4013	79432455	3751,8911	2101	4230	6331	SO:0001819	synonymous_variant	80144	exon64			AGCCGGAGGTTCC	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.9808A>C	4.37:g.79432455A>C		Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	313	146	0.466454	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	805	0.3685897435897436	219	0.4451219512195122	99	0.27348066298342544	277	0.48426573426573427	210	0.2770448548812665	A	10.70	1.425249	0.25639	0.390766	0.249291	ENSG00000138759	ENST00000512123	.	.	.	5.7	-0.309	0.12769	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.50566	-0.8813	3	.	.	.	.	15.3355	0.74250	0.3525:0.6475:0.0:0.0	rs3749488;rs60064328;rs3749488	.	.	.	A	1498	.	.	E	+	2	0	FRAS1	79651479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.791000	0.38744	0.387000	0.25024	0.383000	0.25322	GAG	A|0.628;C|0.372	0.372	strong		0.488	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	79432455	A	C	79432455	2	2	22	1	0	0	0	0	0	0	0	1	6042	295	11	5		5	FRAS1	4	79432455	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35845	79432455	111721821	2654	7762										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79437155	79437155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgtgggggctctgtaacCgctgacttccaggtaggtgc	15	10	2	1	rs3749487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79437155C>T	ENST00000264895.6	+	66	10817	c.10377C>T	c.(10375-10377)acC>acT	p.T3459T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3455					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)	p.T3459T(2)|p.T3460T(1)		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						GCTCTGTAACCGCTGACTTCC	0.507													C|||	884	0.176518	0.177	0.1398	5008	,	,		18849	0.2242		0.2058	False		,,,				2504	0.1227				p.T3459T		Atlas-SNP	.											FRAS1_ENST00000264895,NS,carcinoma,0,2	FRAS1	779	2	3	Substitution - coding silent(3)	prostate(3)	c.C10377T						PASS	.	C		762,3516		66,630,1443	69	74	72		10377	-4.6	0.7	4	dbSNP_107	72	1551,6979		140,1271,2854	no	coding-synonymous	FRAS1	NM_025074.6		206,1901,4297	TT,TC,CC		18.1829,17.8121,18.059		3459/4013	79437155	2313,10495	2139	4265	6404	SO:0001819	synonymous_variant	80144	exon66			TGTAACCGCTGAC	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.10377C>T	4.37:g.79437155C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	203	97	0.477833	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	432	0.1978021978021978	96	0.1951219512195122	58	0.16022099447513813	128	0.22377622377622378	150	0.19788918205804748	C	1.309	-0.602724	0.03744	0.178121	0.181829	ENSG00000138759	ENST00000512123	.	.	.	5.97	-4.61	0.03380	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.33929	-0.9849	3	.	.	.	.	2.7957	0.05400	0.1827:0.3609:0.0961:0.3603	rs3749487;rs57228815	.	.	.	C	1688	.	.	R	+	1	0	FRAS1	79656179	0.002000	0.14202	0.743000	0.31040	0.168000	0.22595	-1.645000	0.02000	-0.358000	0.08162	-0.606000	0.04082	CGC	C|0.803;T|0.197	0.197	strong		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79437155	C	T	79437155	2	4	22	1	0	0	0	0	0	0	0	1	6042	639	23	1		1	FRAS1	4	79437155	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4700	79437155	111717121	2655	7763										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79447763	79447763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcccacacagccatgggTtgacccaggagagaagcctt	12	13	0	2	rs34670941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79447763T>C	ENST00000264895.6	+	70	11317	c.10877T>C	c.(10876-10878)gTt>gCt	p.V3626A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3622					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						CAGCCATGGGTTGACCCAGGA	0.478													T|||	728	0.145367	0.1755	0.0865	5008	,	,		22507	0.2272		0.1093	False		,,,				2504	0.0992				p.V3626A		Atlas-SNP	.											.	FRAS1	779	.	0			c.T10877C						PASS	.	T	ALA/VAL	652,3336		46,560,1388	50	53	52		10877	-0.8	0	4	dbSNP_126	52	832,7504		38,756,3374	yes	missense	FRAS1	NM_025074.6	64	84,1316,4762	CC,CT,TT		9.9808,16.349,12.0415	benign	3626/4013	79447763	1484,10840	1994	4168	6162	SO:0001583	missense	80144	exon70			CATGGGTTGACCC	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.10877T>C	4.37:g.79447763T>C	ENSP00000264895:p.Val3626Ala	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	289	132	0.456747	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	342	0.1565934065934066	96	0.1951219512195122	32	0.08839779005524862	128	0.22377622377622378	86	0.11345646437994723	T	5.318	0.243937	0.10077	0.16349	0.099808	ENSG00000138759	ENST00000264895	T	0.11063	2.81	5.75	-0.78	0.10969	.	1.100870	0.06846	N	0.796502	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48246	-0.9052	9	0.15952	T	0.53	.	11.2992	0.49295	0.0:0.406:0.0:0.594	rs34670941	3626	E9PHH6	.	A	3626	ENSP00000264895:V3626A	ENSP00000264895:V3626A	V	+	2	0	FRAS1	79666787	0.000000	0.05858	0.003000	0.11579	0.368000	0.29767	0.372000	0.20467	-0.331000	0.08501	0.397000	0.26171	GTT	T|0.854;C|0.146	0.146	strong		0.478	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	79447763	T	C	79447763	3	2	22	1	0	0	0	0	1	0	0	0	6042	1725	60	2	11230	2	FRAS1	4	79447763	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10608	79447763	111706513	2656	7764										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79455714	79455714	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgttcctaatggatccCaatacatctgatatgtcact	7	9	2	1	rs4975070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79455714C>G	ENST00000264895.6	+	71	11477	c.11037C>G	c.(11035-11037)ccC>ccG	p.P3679P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3675					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						TAATGGATCCCAATACATCTG	0.448													C|||	2579	0.514976	0.3086	0.4395	5008	,	,		20789	0.7758		0.4632	False		,,,				2504	0.6319				p.P3679P		Atlas-SNP	.											.	FRAS1	779	.	0			c.C11037G						PASS	.	C		1279,2509		215,849,830	128	115	119		11037	3.2	1	4	dbSNP_111	119	3593,4649		791,2011,1319	no	coding-synonymous	FRAS1	NM_025074.6		1006,2860,2149	GG,GC,CC		43.5938,33.7645,40.4988		3679/4013	79455714	4872,7158	1894	4121	6015	SO:0001819	synonymous_variant	80144	exon71			GGATCCCAATACA	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.11037C>G	4.37:g.79455714C>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	112	51	0.455357	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	1143	0.5233516483516484	172	0.34959349593495936	163	0.45027624309392267	453	0.791958041958042	355	0.4683377308707124	C	6.186	0.402486	0.11696	0.337645	0.435938	ENSG00000138759	ENST00000512123	.	.	.	5.05	3.2	0.36748	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.33523	-0.9865	3	.	.	.	.	9.0976	0.36649	0.2536:0.6722:0.0:0.0741	rs4975070;rs61687904;rs4975070	.	.	.	E	1908	.	.	Q	+	1	0	FRAS1	79674738	0.997000	0.39634	1.000000	0.80357	0.777000	0.43975	0.493000	0.22451	2.336000	0.79503	0.591000	0.81541	CAA	C|0.485;G|0.515	0.515	strong		0.448	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	79455714	C	G	79455714	2	3	22	1	0	0	0	0	0	0	0	1	6042	581	21	4		4	FRAS1	4	79455714	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7951	79455714	111698562	2657	7765										
FRAS1	80144	hgsc.bcm.edu	37	chr4	79455733	79455733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatacatctgatatgtcaCtagcagaaatggattacaaa	6	8	2	2	rs4975139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:79455733C>T	ENST00000264895.6	+	71	11496	c.11056C>T	c.(11056-11058)Cta>Tta	p.L3686L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3682					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						TGATATGTCACTAGCAGAAAT	0.438													C|||	2579	0.514976	0.3086	0.4395	5008	,	,		21167	0.7758		0.4632	False		,,,				2504	0.6319				p.L3686L		Atlas-SNP	.											.	FRAS1	779	.	0			c.C11056T						PASS	.	C		1271,2491		214,843,824	104	93	97		11056	2.4	1	4	dbSNP_111	97	3591,4647		790,2011,1318	no	coding-synonymous	FRAS1	NM_025074.6		1004,2854,2142	TT,TC,CC		43.5907,33.7852,40.5167		3686/4013	79455733	4862,7138	1881	4119	6000	SO:0001819	synonymous_variant	80144	exon71			ATGTCACTAGCAG	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.11056C>T	4.37:g.79455733C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	102	47	0.460784	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	1143	0.5233516483516484	172	0.34959349593495936	163	0.45027624309392267	453	0.791958041958042	355	0.4683377308707124	C	5.004	0.186442	0.09495	0.337852	0.435907	ENSG00000138759	ENST00000512123	.	.	.	5.05	2.41	0.29592	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999856936	.	.	.	.	.	.	T	0.20940	-1.0260	3	.	.	.	.	6.0073	0.19553	0.1323:0.6491:0.0:0.2186	rs4975139;rs58497218;rs4975139	.	.	.	I	1914	.	.	T	+	2	0	FRAS1	79674757	0.602000	0.26916	0.987000	0.45799	0.774000	0.43823	1.126000	0.31344	0.174000	0.19809	-0.216000	0.12614	ACT	C|0.484;T|0.516	0.516	strong		0.438	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79455733	C	T	79455733	2	4	22	1	0	0	0	0	0	0	0	1	6042	564	20	2		2	FRAS1	4	79455733	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	79455733	111698543	2658	7766										
PRDM8	56978	hgsc.bcm.edu	37	chr4	81124299	81124299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaacggaggttgcgggtcCctgccgagcggcggcggcgg	20	12	0	1	rs150632206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:81124299C>T	ENST00000504452.1	+	8	2522	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	PRDM8_ENST00000339711.4_Silent_p.S561S|PRDM8_ENST00000415738.2_Silent_p.S561S			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	561					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GTTGCGGGTCCCTGCCGAGCG	0.746													C|||	105	0.0209665	0.0764	0.0058	5008	,	,		7601	0.0		0.0	False		,,,				2504	0.0				p.S561S		Atlas-SNP	.											.	PRDM8	44	.	0			c.C1683T						PASS	.	C	,	100,2254		0,100,1077	2	3	3		1683,1683	-2.1	1	4	dbSNP_134	3	1,5715		0,1,2857	no	coding-synonymous,coding-synonymous	PRDM8	NM_001099403.1,NM_020226.3	,	0,101,3934	TT,TC,CC		0.0175,4.2481,1.2515	,	561/690,561/690	81124299	101,7969	1177	2858	4035	SO:0001819	synonymous_variant	56978	exon4			CGGGTCCCTGCCG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1683C>T	4.37:g.81124299C>T		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001099403	A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	CCDS43243.1																																																																																			C|0.982;T|0.018	0.018	strong		0.746	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			T	81124299	C	T	81124299	2	4	22	1	0	0	0	0	0	0	0	1	12462	610	22	2		2	PRDM8	4	81124299	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1668566	81124299	110029977	2659	7767										
PRDM8	56978	hgsc.bcm.edu	37	chr4	81124596	81124596	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggagcccttggtgaagcgGcggcgagaggagaaactcaa	16	8	1	3	rs12780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:81124596G>C	ENST00000504452.1	+	8	2819	c.1980G>C	c.(1978-1980)cgG>cgC	p.R660R	PRDM8_ENST00000339711.4_Silent_p.R660R|PRDM8_ENST00000415738.2_Silent_p.R660R			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	660					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGGTGAAGCGGCGGCGAGAGG	0.572													G|||	1745	0.348442	0.1672	0.3372	5008	,	,		12837	0.626		0.2724	False		,,,				2504	0.3937				p.R660R		Atlas-SNP	.											PRDM8,colon,carcinoma,0,1	PRDM8	44	1	0			c.G1980C						PASS	.	G	,	746,3544		70,606,1469	32	38	36		1980,1980	1.1	1	4	dbSNP_52	36	2160,6384		289,1582,2401	no	coding-synonymous,coding-synonymous	PRDM8	NM_001099403.1,NM_020226.3	,	359,2188,3870	CC,CG,GG		25.2809,17.3893,22.643	,	660/690,660/690	81124596	2906,9928	2145	4272	6417	SO:0001819	synonymous_variant	56978	exon4			GAAGCGGCGGCGA	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1980G>C	4.37:g.81124596G>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	117	61	0.521368	NM_001099403	A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	CCDS43243.1																																																																																			G|0.671;C|0.329	0.329	strong		0.572	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			C	81124596	G	C	81124596	2	2	22	1	0	0	0	0	0	0	0	1	12462	1190	42	4		4	PRDM8	4	81124596	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	297	81124596	110029680	2660	7768										
C4orf22	255119	hgsc.bcm.edu	37	chr4	81866010	81866010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttagtaattcaagtcccAactatcaagtgattgccgat	7	9	2	1	rs201959026		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:81866010A>C	ENST00000358105.3	+	5	572	c.523A>C	c.(523-525)Aac>Cac	p.N175H	C4orf22_ENST00000508675.1_Missense_Mutation_p.N192H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	175										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTCAAGTCCCAACTATCAAGT	0.313													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16588	0.0		0.0	False		,,,				2504	0.0				p.N192H		Atlas-SNP	.											.	C4orf22	35	.	0			c.A574C						PASS	.	A	HIS/ASN,HIS/ASN	8,4396	12.9+/-30.5	0,8,2194	70	71	71		574,523	5.8	1	4		71	0,8594		0,0,4297	yes	missense,missense	C4orf22	NM_001206997.1,NM_152770.2	68,68	0,8,6491	CC,CA,AA		0.0,0.1817,0.0615	possibly-damaging,possibly-damaging	192/251,175/234	81866010	8,12990	2202	4297	6499	SO:0001583	missense	255119	exon6			AGTCCCAACTATC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.523A>C	4.37:g.81866010A>C	ENSP00000350818:p.Asn175His	Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	328	148	0.451219	NM_001206997	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364872	0.61513	0.001817	0.0	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.36878	1.23;1.23	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.77616	2.38	0.46203	D	0.998921	P;D	0.54397	0.956;0.966	P;P	0.55667	0.73;0.781	T	0.60010	-0.7346	10	0.56958	D	0.05	.	15.1462	0.72653	1.0:0.0:0.0:0.0	.	192;175	E7EQ13;Q6V702	.;CD022_HUMAN	H	175;192	ENSP00000350818:N175H;ENSP00000425786:N192H	ENSP00000350818:N175H	N	+	1	0	C4orf22	82085034	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.456000	0.73501	2.216000	0.71823	0.533000	0.62120	AAC	.	.	weak		0.313	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		C	81866010	A	C	81866010	3	2	22	1	0	0	0	0	1	0	0	0	2255	130	5	5	541	5	C4orf22	4	81866010	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	741414	81866010	109288266	2661	7769										
BMP3	651	hgsc.bcm.edu	37	chr4	81952658	81952658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcacggtccaggcggccCggacaccgggctccctggag	15	16	0	0	rs61729824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:81952658C>G	ENST00000282701.2	+	1	540	c.220C>G	c.(220-222)Cgg>Ggg	p.R74G		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	74					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAGGCGGCCCGGACACCGGG	0.687													c|||	28	0.00559105	0.0197	0.0029	5008	,	,		13952	0.0		0.0	False		,,,				2504	0.0				p.R74G		Atlas-SNP	.											.	BMP3	59	.	0			c.C220G						PASS	.						18	21	20					4																	81952658		2199	4298	6497	SO:0001583	missense	651	exon1			GCGGCCCGGACAC	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.220C>G	4.37:g.81952658C>G	ENSP00000282701:p.Arg74Gly	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_001201	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	c	7.074	0.568893	0.13560	.	.	ENSG00000152785	ENST00000282701	T	0.64803	-0.12	3.44	2.6	0.31112	Transforming growth factor-beta, N-terminal (1);	1.192490	0.06406	N	0.719754	T	0.41880	0.1178	N	0.08118	0	0.09310	N	1	B	0.25007	0.116	B	0.28849	0.095	T	0.35649	-0.9780	10	0.22109	T	0.4	.	7.0017	0.24813	0.0:0.875:0.0:0.125	.	74	P12645	BMP3_HUMAN	G	74	ENSP00000282701:R74G	ENSP00000282701:R74G	R	+	1	2	BMP3	82171682	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.383000	0.07398	1.034000	0.39945	-0.215000	0.12644	CGG	C|0.988;T|0.012	.	alt		0.687	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			G	81952658	C	G	81952658	3	3	22	1	0	0	0	0	1	0	0	0	1461	643	23	4	222	4	BMP3	4	81952658	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86648	81952658	109201618	2662	7770										
HPSE	10855	hgsc.bcm.edu	37	chr4	84222208	84222208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccgcaagtacttggtgacAttatggaggtttatggcata	11	6	0	1	rs11031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:84222208A>G	ENST00000405413.2	-	12	1513	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	HPSE_ENST00000512196.1_Silent_p.N385N|HPSE_ENST00000311412.5_Silent_p.N459N|HPSE_ENST00000513463.1_Silent_p.N401N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	459					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ACTTGGTGACATTATGGAGGT	0.353													A|||	426	0.0850639	0.3064	0.0259	5008	,	,		18825	0.0		0.003	False		,,,				2504	0.0				p.N459N		Atlas-SNP	.											.	HPSE	55	.	0			c.T1377C						PASS	.	A	,,,	1123,3283	402.2+/-332.3	156,811,1236	119	126	123		1377,1155,1203,1377	-3.8	1	4	dbSNP_52	123	18,8582	11.9+/-42.8	0,18,4282	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HPSE	NM_001098540.2,NM_001166498.2,NM_001199830.1,NM_006665.5	,,,	156,829,5518	GG,GA,AA		0.2093,25.488,8.7729	,,,	459/544,385/470,401/486,459/544	84222208	1141,11865	2203	4300	6503	SO:0001819	synonymous_variant	10855	exon11			GGTGACATTATGG	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1377T>C	4.37:g.84222208A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	134	66	0.492537	NM_001098540	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Silent	SNP	ENST00000405413.2	37	CCDS3602.1																																																																																			A|0.911;G|0.089	0.089	strong		0.353	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		G	84222208	A	G	84222208	2	3	22	1	0	0	0	0	0	0	0	1	7344	214	8	2		2	HPSE	4	84222208	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2269550	84222208	106932068	2663	7771										
HELQ	113510	hgsc.bcm.edu	37	chr4	84350870	84350870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatgtaccattcatgaaAtgatagatgtcatcaagatt	6	5	3	4	rs59255439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:84350870A>G	ENST00000295488.3	-	12	2487	c.2325T>C	c.(2323-2325)caT>caC	p.H775H	HELQ_ENST00000510985.1_Silent_p.H708H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	775					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CATTCATGAAATGATAGATGT	0.328								Other identified genes with known or suspected DNA repair function					G|||	497	0.0992412	0.3563	0.036	5008	,	,		15251	0.0		0.001	False		,,,				2504	0.0				p.H775H		Atlas-SNP	.											.	HELQ	95	.	0			c.T2325C						PASS	.	G		1348,3052	683.1+/-404.2	191,966,1043	43	39	40		2325	1.2	1	4	dbSNP_129	40	18,8578	810.1+/-407.1	0,18,4280	no	coding-synonymous	HELQ	NM_133636.2		191,984,5323	GG,GA,AA		0.2094,30.6364,10.5109		775/1102	84350870	1366,11630	2200	4298	6498	SO:0001819	synonymous_variant	113510	exon12			CATGAAATGATAG	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2325T>C	4.37:g.84350870A>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																			A|0.908;G|0.092	0.092	strong		0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84350870	A	G	84350870	2	3	22	1	0	0	0	0	0	0	0	1	7047	98	4	2		2	HELQ	4	84350870	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	128662	84350870	106803406	2664	7772										
HELQ	113510	hgsc.bcm.edu	37	chr4	84361071	84361071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacagttcttcttactagGacaaaaaactaagcaggaat	6	8	3	0	rs6817280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:84361071G>A	ENST00000295488.3	-	8	1915	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	HELQ_ENST00000510985.1_Missense_Mutation_p.P518S	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		P -> S (in dbSNP:rs6817280).		double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTCTTACTAGGACAAAAAACT	0.303								Other identified genes with known or suspected DNA repair function					G|||	422	0.0842652	0.3026	0.0303	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0				p.P585S		Atlas-SNP	.											.	HELQ	95	.	0			c.C1753T						PASS	.	G	SER/PRO	1127,3279	391.0+/-327.9	138,851,1214	64	67	66		1753	5.7	1	4	dbSNP_116	66	14,8584	9.1+/-34.3	0,14,4285	yes	missense	HELQ	NM_133636.2	74	138,865,5499	AA,AG,GG		0.1628,25.5788,8.7742	possibly-damaging	585/1102	84361071	1141,11863	2203	4299	6502	SO:0001583	missense	113510	exon8			TACTAGGACAAAA	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1753C>T	4.37:g.84361071G>A	ENSP00000295488:p.Pro585Ser	Somatic	335	1	0.00298507		WXS	Illumina HiSeq	Phase_I	376	192	0.510638	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	134	0.06135531135531135	122	0.24796747967479674	11	0.03038674033149171	0	0.0	1	0.0013192612137203166	G	21.9	4.217196	0.79352	0.255788	0.001628	ENSG00000163312	ENST00000295488;ENST00000510985	T;D	0.91686	-0.57;-2.89	5.68	5.68	0.88126	Helicase, C-terminal (1);	0.051961	0.85682	D	0.000000	T	0.00144	0.0004	L	0.28694	0.88	0.09310	P	0.99999999573404	D;P	0.71674	0.998;0.855	D;P	0.64687	0.928;0.474	T	0.42361	-0.9456	9	0.11485	T	0.65	.	19.7785	0.96405	0.0:0.0:1.0:0.0	rs6817280;rs6817280	518;585	E3W980;Q8TDG4	.;HELQ_HUMAN	S	585;518	ENSP00000295488:P585S;ENSP00000424539:P518S	ENSP00000295488:P585S	P	-	1	0	HELQ	84580095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.675000	0.91044	0.655000	0.94253	CCT	G|0.916;A|0.084	0.084	strong		0.303	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		A	84361071	G	A	84361071	3	1	22	1	0	0	0	0	1	0	0	0	7047	1174	41	2	1596	2	HELQ	4	84361071	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10201	84361071	106793205	2665	7773										
HELQ	113510	hgsc.bcm.edu	37	chr4	84374692	84374692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctatgcaattatggggcAgttcctcattcacagtgttg	10	9	3	0	rs17006837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:84374692A>G	ENST00000295488.3	-	2	866	c.704T>C	c.(703-705)cTg>cCg	p.L235P	MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.L235P|MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	235			L -> P (in dbSNP:rs17006837).		double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATTATGGGGCAGTTCCTCATT	0.378								Other identified genes with known or suspected DNA repair function					a|||	675	0.134784	0.4894	0.0331	5008	,	,		20460	0.0		0.004	False		,,,				2504	0.001				p.L235P		Atlas-SNP	.											.	HELQ	95	.	0			c.T704C						PASS	.	G	PRO/LEU	1835,2571	527.1+/-372.1	367,1101,735	132	138	136		704	-1.4	0	4	dbSNP_123	136	27,8573	16.0+/-53.3	0,27,4273	yes	missense	HELQ	NM_133636.2	98	367,1128,5008	GG,GA,AA		0.314,41.6478,14.3165	benign	235/1102	84374692	1862,11144	2203	4300	6503	SO:0001583	missense	113510	exon2			TGGGGCAGTTCCT	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.704T>C	4.37:g.84374692A>G	ENSP00000295488:p.Leu235Pro	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	123	64	0.520325	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	202	0.0924908424908425	187	0.3800813008130081	12	0.03314917127071823	0	0.0	3	0.00395778364116095	a	9.849	1.193106	0.21954	0.416478	0.00314	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.69926	0.03;-0.44	5.43	-1.43	0.08884	.	0.989793	0.08215	N	0.980008	T	0.00012	0.0000	L	0.59436	1.845	0.80722	P	0.0	P;B;D;B	0.57571	0.8;0.06;0.98;0.006	B;B;P;B	0.56700	0.278;0.018;0.804;0.003	T	0.20840	-1.0263	9	0.32370	T	0.25	-34.7802	6.3635	0.21441	0.6213:0.1187:0.2599:0.0	rs17006837;rs61470575;rs17006837	235;235;198;235	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	P	235	ENSP00000295488:L235P;ENSP00000424539:L235P	ENSP00000295488:L235P	L	-	2	0	HELQ	84593716	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.386000	0.20702	-0.126000	0.11682	-1.060000	0.02296	CTG	A|0.864;G|0.136	0.136	strong		0.378	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84374692	A	G	84374692	3	3	22	1	0	0	0	0	1	0	0	0	7047	188	7	3	2669	3	HELQ	4	84374692	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13621	84374692	106779584	2666	7774										
MAPK10	5602	hgsc.bcm.edu	37	chr4	86950354	86950354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggagagtgagtacctgaAggagaaggctgtccttttac	13	8	0	4	rs148438622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:86950354A>G	ENST00000359221.3	-	13	1774	c.1248T>C	c.(1246-1248)ccT>ccC	p.P416P	MAPK10_ENST00000395157.3_Silent_p.P271P|MAPK10_ENST00000395160.3_Silent_p.P271P|MAPK10_ENST00000395161.2_Silent_p.P416P|MAPK10_ENST00000395169.3_Silent_p.P378P|MAPK10_ENST00000361569.2_Silent_p.P416P|MAPK10_ENST00000395166.1_Silent_p.P378P|MAPK10_ENST00000449047.2_Silent_p.P271P			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	416					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTACCTGAAGGAGAAGGCT	0.353																																					p.P416P		Atlas-SNP	.											MAPK10_ENST00000449047,colon,carcinoma,-2,2	MAPK10	106	2	0			c.T1248C						PASS	.	A	,,,	5,4401	11.4+/-27.6	0,5,2198	215	200	205		1248,1134,813,1248	6	1	4	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPK10	NM_002753.3,NM_138980.2,NM_138981.2,NM_138982.2	,,,	0,5,6498	GG,GA,AA		0.0,0.1135,0.0384	,,,	416/423,378/427,271/278,416/465	86950354	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5602	exon13			ACCTGAAGGAGAA	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1248T>C	4.37:g.86950354A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_002753	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331983	0.24167	0.001135	0.0	ENSG00000109339	ENST00000515400	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.63850	0.2546	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62955	-0.6744	4	.	.	.	-10.1507	11.1954	0.48709	0.9281:0.0:0.0718:0.0	.	.	.	.	L	329	.	.	F	-	1	0	MAPK10	87169378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.314000	0.51943	2.278000	0.76064	0.533000	0.62120	TTC	A|1.000;G|0.000	0.000	strong		0.353	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			G	86950354	A	G	86950354	2	3	22	1	0	0	0	0	0	0	0	1	9272	59	3	3		3	MAPK10	4	86950354	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2575662	86950354	104203922	2667	7775										
PTPN13	5783	hgsc.bcm.edu	37	chr4	87653594	87653594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaaaatgacaattgaaccAtttatatctttggatttgcc	7	6	1	3	rs201078979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:87653594A>G	ENST00000411767.2	+	11	1713	c.1650A>G	c.(1648-1650)ccA>ccG	p.P550P	PTPN13_ENST00000511467.1_Silent_p.P550P|PTPN13_ENST00000427191.2_Silent_p.P550P|PTPN13_ENST00000436978.1_Silent_p.P550P|PTPN13_ENST00000316707.6_Silent_p.P550P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAATTGAACCATTTATATCTT	0.289													A|||	8	0.00159744	0.0061	0.0	5008	,	,		17350	0.0		0.0	False		,,,				2504	0.0				p.P550P		Atlas-SNP	.											.	PTPN13	203	.	0			c.A1650G						PASS	.	A	,,,	19,3581		0,19,1781	57	53	54		1650,1650,1650,1650	3.2	1	4		54	1,8119		0,1,4059	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	,,,	0,20,5840	GG,GA,AA		0.0123,0.5278,0.1706	,,,	550/2467,550/2486,550/2295,550/2491	87653594	20,11700	1800	4060	5860	SO:0001819	synonymous_variant	5783	exon11			TGAACCATTTATA		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1650A>G	4.37:g.87653594A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	77	31	0.402597	NM_006264	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			A|0.999;G|0.001	0.001	strong		0.289	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			G	87653594	A	G	87653594	2	3	22	1	0	0	0	0	0	0	0	1	12782	204	8	2		2	PTPN13	4	87653594	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	703240	87653594	103500682	2668	7776										
PTPN13	5783	hgsc.bcm.edu	37	chr4	87696470	87696470	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttgctaccggacataacActaacgtgcaacaaagagga					rs12507034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:87696470A>G	ENST00000411767.2	+	34	5718	c.5655A>G	c.(5653-5655)acA>acG	p.T1885T	PTPN13_ENST00000427191.2_Silent_p.T1866T|PTPN13_ENST00000436978.1_Silent_p.T1890T|PTPN13_ENST00000511467.1_Silent_p.T1890T|PTPN13_ENST00000316707.6_Silent_p.T1694T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1885	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CGGACATAACACTAACGTGCA	0.383													A|||	353	0.0704872	0.1074	0.0677	5008	,	,		19265	0.0079		0.1143	False		,,,				2504	0.0419				p.T1890T		Atlas-SNP	.											.	PTPN13	203	.	0			c.A5670G						PASS	.	A	,,,	372,3362		19,334,1514	83	76	78		5598,5655,5082,5670	-0.6	0	4	dbSNP_120	78	996,7220		61,874,3173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	,,,	80,1208,4687	GG,GA,AA		12.1227,9.9625,11.4477	,,,	1866/2467,1885/2486,1694/2295,1890/2491	87696470	1368,10582	1867	4108	5975	SO:0001819	synonymous_variant	5783	exon34			CATAACACTAACG		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5655A>G	4.37:g.87696470A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	164	74	0.451219	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			A|0.906;G|0.094	0.094	strong		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			G	87696470	A	G	87696470	2	3	22	1	0	0	0	0	0	0	0	1	12782	146	6	2		2	PTPN13	4	87696470	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42876	87696470	103457806	2669	7777	147	2								
PTPN13	5783	hgsc.bcm.edu	37	chr4	87696476	87696476	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaccggacataacactaacGtgcaacaaagaggagttggg					rs12499471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:87696476G>A	ENST00000411767.2	+	34	5724	c.5661G>A	c.(5659-5661)acG>acA	p.T1887T	PTPN13_ENST00000511467.1_Silent_p.T1892T|PTPN13_ENST00000427191.2_Silent_p.T1868T|PTPN13_ENST00000436978.1_Silent_p.T1892T|PTPN13_ENST00000316707.6_Silent_p.T1696T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1887	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAACACTAACGTGCAACAAAG	0.373													A|||	353	0.0704872	0.1074	0.0677	5008	,	,		19377	0.0079		0.1143	False		,,,				2504	0.0419				p.T1892T		Atlas-SNP	.											.	PTPN13	203	.	0			c.G5676A						PASS	.	A	,,,	373,3357		19,335,1511	81	74	76		5604,5661,5088,5676	-7.1	0	4	dbSNP_120	76	999,7205		61,877,3164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	,,,	80,1212,4675	AA,AG,GG		12.177,10.0,11.4966	,,,	1868/2467,1887/2486,1696/2295,1892/2491	87696476	1372,10562	1865	4102	5967	SO:0001819	synonymous_variant	5783	exon34			ACTAACGTGCAAC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5661G>A	4.37:g.87696476G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	151	69	0.456954	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			G|0.906;A|0.094	0.094	strong		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87696476	G	A	87696476	2	1	22	1	0	0	0	0	0	0	0	1	12782	1132	40	1		1	PTPN13	4	87696476	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	87696476	103457800	2670	7778	147	2								
PTPN13	5783	hgsc.bcm.edu	37	chr4	87696623	87696623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatgtggaggtcatgacagCctttatcaagtggtatatat	10	5	2	1	rs148059206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:87696623C>T	ENST00000411767.2	+	35	5772	c.5709C>T	c.(5707-5709)agC>agT	p.S1903S	PTPN13_ENST00000511467.1_Silent_p.S1908S|PTPN13_ENST00000427191.2_Silent_p.S1884S|PTPN13_ENST00000436978.1_Silent_p.S1908S|PTPN13_ENST00000316707.6_Silent_p.S1712S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1903	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTCATGACAGCCTTTATCAAG	0.353													C|||	9	0.00179712	0.0068	0.0	5008	,	,		20073	0.0		0.0	False		,,,				2504	0.0				p.S1908S		Atlas-SNP	.											.	PTPN13	203	.	0			c.C5724T						PASS	.	C	,,,	20,3920		0,20,1950	94	89	90		5652,5709,5136,5724	1	0.3	4	dbSNP_134	90	1,8343		0,1,4171	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	,,,	0,21,6121	TT,TC,CC		0.012,0.5076,0.171	,,,	1884/2467,1903/2486,1712/2295,1908/2491	87696623	21,12263	1970	4172	6142	SO:0001819	synonymous_variant	5783	exon35			TGACAGCCTTTAT		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5709C>T	4.37:g.87696623C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			C|0.999;T|0.001	0.001	strong		0.353	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			T	87696623	C	T	87696623	2	4	22	1	0	0	0	0	0	0	0	1	12782	738	26	2		2	PTPN13	4	87696623	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147	87696623	103457653	2671	7779										
SLC10A6	345274	hgsc.bcm.edu	37	chr4	87769929	87769929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaacccagaaggtgaaaaTgttagagatggtgccccccg	11	10	1	3	rs13106574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:87769929T>C	ENST00000273905.6	-	1	487	c.340A>G	c.(340-342)Att>Gtt	p.I114V	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	114			I -> V (in dbSNP:rs13106574). {ECO:0000269|PubMed:15489334}.		sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAGGTGAAAATGTTAGAGATG	0.488													T|||	495	0.0988419	0.118	0.1268	5008	,	,		17437	0.001		0.1769	False		,,,				2504	0.0736				p.I114V		Atlas-SNP	.											.	SLC10A6	40	.	0			c.A340G						PASS	.	T	VAL/ILE	518,3888	237.4+/-249.2	30,458,1715	78	84	82		340	2.6	1	4	dbSNP_121	82	1726,6874	315.7+/-312.4	178,1370,2752	yes	missense	SLC10A6	NM_197965.2	29	208,1828,4467	CC,CT,TT		20.0698,11.7567,17.2536	benign	114/378	87769929	2244,10762	2203	4300	6503	SO:0001583	missense	345274	exon1			TGAAAATGTTAGA	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.340A>G	4.37:g.87769929T>C	ENSP00000273905:p.Ile114Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	127	65	0.511811	NM_197965	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	224	0.10256410256410256	54	0.10975609756097561	46	0.1270718232044199	0	0.0	124	0.16358839050131926	T	10.69	1.422271	0.25639	0.117567	0.200698	ENSG00000145283	ENST00000273905	T	0.08984	3.03	5.59	2.64	0.31445	.	0.077016	0.52532	N	0.000071	T	0.00012	0.0000	N	0.13272	0.32	0.41065	P	0.014599000000000029	B	0.25169	0.119	B	0.31812	0.136	T	0.47394	-0.9121	9	0.15066	T	0.55	-17.4279	5.4631	0.16627	0.0:0.1238:0.1603:0.7158	rs13106574;rs52789983;rs59733764;rs13106574	114	Q3KNW5	SOAT_HUMAN	V	114	ENSP00000273905:I114V	ENSP00000273905:I114V	I	-	1	0	SLC10A6	87988953	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	1.263000	0.33004	0.751000	0.32900	0.533000	0.62120	ATT	T|0.854;C|0.146	0.146	strong		0.488	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		C	87769929	T	C	87769929	3	2	22	1	0	0	0	0	1	0	0	0	14378	1464	51	2	817	2	SLC10A6	4	87769929	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73306	87769929	103384347	2672	7780										
HSD17B13	345275	hgsc.bcm.edu	37	chr4	88243832	88243832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgtcgttttgcaaattcAtaagtagtctgcctgcctat	7	10	3	0	rs137887488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88243832A>G	ENST00000328546.4	-	1	226	c.162T>C	c.(160-162)taT>taC	p.Y54Y	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Silent_p.Y54Y	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	54						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTGCAAATTCATAAGTAGTCT	0.388													A|||	10	0.00199681	0.0068	0.0014	5008	,	,		20127	0.0		0.0	False		,,,				2504	0.0				p.Y54Y		Atlas-SNP	.											.	HSD17B13	27	.	0			c.T162C						PASS	.	A	,	39,4367	43.1+/-76.7	0,39,2164	109	110	110		162,162	-0.3	1	4	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HSD17B13	NM_001136230.1,NM_178135.3	,	0,39,6464	GG,GA,AA		0.0,0.8852,0.2999	,	54/265,54/301	88243832	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	345275	exon1			AAATTCATAAGTA		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.162T>C	4.37:g.88243832A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	186	89	0.478495	NM_178135	A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	ENST00000328546.4	37	CCDS3618.1																																																																																			A|0.996;G|0.004	0.004	strong		0.388	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		G	88243832	A	G	88243832	2	3	22	1	0	0	0	0	0	0	0	1	7382	224	8	2		2	HSD17B13	4	88243832	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	473903	88243832	102910444	2673	7781										
HSD17B11	51170	hgsc.bcm.edu	37	chr4	88278484	88278484	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaaattaggacacagacaTgttgttttgactccagttat	8	7	0	2	rs34025653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88278484T>G	ENST00000358290.4	-	5	957	c.642A>C	c.(640-642)acA>acC	p.T214T	HSD17B11_ENST00000507286.1_Silent_p.T170T|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	214					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GACACAGACATGTTGTTTTGA	0.368													T|||	288	0.057508	0.2095	0.0159	5008	,	,		19416	0.0		0.0	False		,,,				2504	0.0				p.T214T		Atlas-SNP	.											.	HSD17B11	28	.	0			c.A642C						PASS	.	T		732,3672	301.5+/-286.9	69,594,1539	134	115	122		642	-11.3	0.6	4	dbSNP_126	122	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	HSD17B11	NM_016245.3		69,601,5832	GG,GT,TT		0.0814,16.6213,5.6829		214/301	88278484	739,12265	2202	4300	6502	SO:0001819	synonymous_variant	51170	exon5			CAGACATGTTGTT	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.642A>C	4.37:g.88278484T>G		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	176	68	0.386364	NM_016245	Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	CCDS3619.1																																																																																			T|0.938;G|0.062	0.062	strong		0.368	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		G	88278484	T	G	88278484	2	3	22	1	0	0	0	0	0	0	0	1	7380	1451	51	5		5	HSD17B11	4	88278484	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34652	88278484	102875792	2674	7782										
HSD17B11	51170	hgsc.bcm.edu	37	chr4	88293887	88293887	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagtaagaaggggaccgaGacatgtccagctgccgaagc	14	11	0	2	rs6531985	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88293887G>A	ENST00000358290.4	-	4	846	c.531C>T	c.(529-531)gtC>gtT	p.V177V	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Silent_p.V133V	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	177					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGGGACCGAGACATGTCCAG	0.413													A|||	1429	0.285343	0.5764	0.2882	5008	,	,		14982	0.005		0.327	False		,,,				2504	0.136				p.V177V		Atlas-SNP	.											.	HSD17B11	28	.	0			c.C531T						PASS	.	A		2371,2035	564.7+/-381.5	634,1103,466	159	130	140		531	-8.2	0	4	dbSNP_116	140	2700,5900	682.1+/-403.8	406,1888,2006	no	coding-synonymous	HSD17B11	NM_016245.3		1040,2991,2472	AA,AG,GG		31.3953,46.187,38.9897		177/301	88293887	5071,7935	2203	4300	6503	SO:0001819	synonymous_variant	51170	exon4			GACCGAGACATGT	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.531C>T	4.37:g.88293887G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_016245	Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	CCDS3619.1																																																																																			G|0.645;A|0.355	0.355	strong		0.413	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		A	88293887	G	A	88293887	2	1	22	1	0	0	0	0	0	0	0	1	7380	929	33	2		2	HSD17B11	4	88293887	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15403	88293887	102860389	2675	7783										
NUDT9	53343	hgsc.bcm.edu	37	chr4	88344063	88344063	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctcggggcgctcatggcGggacgcctcctgggaaaggc	17	14	1	0	rs11937770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88344063G>C	ENST00000302174.4	+	1	330	c.6G>C	c.(4-6)gcG>gcC	p.A2A	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	2					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CGCTCATGGCGGGACGCCTCC	0.667													C|||	539	0.107628	0.3865	0.0187	5008	,	,		15327	0.001		0.003	False		,,,				2504	0.0112				p.A2A		Atlas-SNP	.											.	NUDT9	21	.	0			c.G6C						PASS	.	C	,	1471,2935	670.9+/-402.4	263,945,995	59	65	63		6,	1.3	0.7	4	dbSNP_120	63	20,8580	809.7+/-407.1	0,20,4280	no	coding-synonymous,intron	NUDT9	NM_024047.3,NM_198038.1	,	263,965,5275	CC,CG,GG		0.2326,33.3863,11.4639	,	2/351,	88344063	1491,11515	2203	4300	6503	SO:0001819	synonymous_variant	53343	exon1			CATGGCGGGACGC	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.6G>C	4.37:g.88344063G>C		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	21	20	0.952381	NM_001248011	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	CCDS3620.1																																																																																			G|0.895;C|0.105	0.105	strong		0.667	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			C	88344063	G	C	88344063	2	2	22	1	0	0	0	0	0	0	0	1	10746	1103	39	4		4	NUDT9	4	88344063	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50176	88344063	102810213	2676	7784										
DSPP	1834	hgsc.bcm.edu	37	chr4	88534065	88534065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctggcctggataattccGatgggagtcctagtgggaat	14	7	0	0	rs3750025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88534065G>A	ENST00000282478.7	+	3	760	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DSPP_ENST00000399271.1_Missense_Mutation_p.D243N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	243			D -> N (in dbSNP:rs3750025).		biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGATAATTCCGATGGGAGTCC	0.458													G|||	526	0.105032	0.0197	0.062	5008	,	,		22061	0.3651		0.0209	False		,,,				2504	0.0695				p.D243N		Atlas-SNP	.											.	DSPP	174	.	0			c.G727A						PASS	.	G	ASN/ASP	93,4005		0,93,1956	104	115	111		727	3.7	0.8	4	dbSNP_107	111	174,8206		1,172,4017	yes	missense	DSPP	NM_014208.3	23	1,265,5973	AA,AG,GG		2.0764,2.2694,2.1398	probably-damaging	243/1302	88534065	267,12211	2049	4190	6239	SO:0001583	missense	1834	exon4			AATTCCGATGGGA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.727G>A	4.37:g.88534065G>A	ENSP00000282478:p.Asp243Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	157	79	0.503185	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	251	0.11492673992673992	18	0.036585365853658534	29	0.08011049723756906	191	0.3339160839160839	13	0.017150395778364115	G	8.391	0.839843	0.16891	0.022694	0.020764	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92545	-3.06;-3.06	4.59	3.74	0.42951	.	.	.	.	.	T	0.00012	0.0000	L	0.58101	1.795	0.37891	P	0.069295	D	0.64830	0.994	P	0.56278	0.795	T	0.00000	-1.4240	8	0.59425	D	0.04	-1.7006	12.3912	0.55360	0.0:0.1711:0.8289:0.0	rs3750025;rs16996089;rs52794219;rs61697660;rs3750025	243	Q9NZW4	DSPP_HUMAN	N	243	ENSP00000382213:D243N;ENSP00000282478:D243N	ENSP00000282478:D243N	D	+	1	0	DSPP	88753089	0.999000	0.42202	0.751000	0.31187	0.310000	0.27922	2.779000	0.47734	1.146000	0.42352	-0.310000	0.09108	GAT	G|0.906;A|0.094	0.094	strong		0.458	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88534065	G	A	88534065	3	1	22	1	0	0	0	0	1	0	0	0	4782	1058	37	1	737	1	DSPP	4	88534065	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190002	88534065	102620211	2677	7785										
DSPP	1834	hgsc.bcm.edu	37	chr4	88535830	88535830	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgatagtagtgacagcagTgatagcagtgacagcagcag					rs202057495|rs142316753		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535830T>C	ENST00000282478.7	+	4	2049	c.2016T>C	c.(2014-2016)agT>agC	p.S672S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S672S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	672	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagtgatagcagtg	0.488																																					p.S672S		Atlas-SNP	.											.	DSPP	174	.	0			c.T2016C						PASS	.						121	137	131					4																	88535830		1707	3117	4824	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGATAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2016T>C	4.37:g.88535830T>C		Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	362	56	0.154696	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88535830	T	C	88535830	2	2	22	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88535830	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1765	88535830	102618446	2678	7786	148	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88535831	88535831	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatagtagtgacagcagtGatagcagtgacagcagcagt					rs142316753|rs200378069		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535831G>A	ENST00000282478.7	+	4	2050	c.2017G>A	c.(2017-2019)Gat>Aat	p.D673N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D673N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	673	Asp/Ser-rich.			D -> DSSDSSS (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagtgatagcagtga	0.488																																					p.D673N		Atlas-SNP	.											.	DSPP	174	.	0			c.G2017A						PASS	.						120	136	130					4																	88535831		1703	3111	4814	SO:0001583	missense	1834	exon5			AGCAGTGATAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2017G>A	4.37:g.88535831G>A	ENSP00000282478:p.Asp673Asn	Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	361	58	0.160665	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	-	3.944	-0.013591	0.07727	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87887	-2.31;-2.31	2.58	2.58	0.30949	.	.	.	.	.	T	0.78672	0.4320	L	0.43923	1.385	0.09310	N	0.999996	P	0.48694	0.914	B	0.40199	0.322	T	0.66512	-0.5905	9	0.21540	T	0.41	-9.092	5.9953	0.19491	0.1666:0.0:0.8334:0.0	.	673	Q9NZW4	DSPP_HUMAN	N	673	ENSP00000382213:D673N;ENSP00000282478:D673N	ENSP00000282478:D673N	D	+	1	0	DSPP	88754855	0.545000	0.26449	0.888000	0.34837	0.025000	0.11179	1.981000	0.40628	1.389000	0.46526	0.165000	0.16767	GAT	.	.	weak		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88535831	G	A	88535831	3	1	22	1	0	0	0	0	1	0	0	0	4782	1290	45	2	2031	2	DSPP	4	88535831	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	88535831	102618445	2679	7787	148	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88535832	88535833	+	In_Frame_Ins	INS	-	-	TAGCAGTGACAGCAGCAG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatagtagtgacagcagtgaINStagcagtgacagcagcagta					rs201553143|rs142316753		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535832_88535833insTAGCAGTGACAGCAGCAG	ENST00000282478.7	+	4	2051_2052	c.2018_2019insTAGCAGTGACAGCAGCAG	c.(2017-2022)gatagc>gaTAGCAGTGACAGCAGCAGtagc	p.680_681insSDSSSS	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Ins_p.680_681insSDSSSS			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	680	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagtgatagcagtgaca	0.485																																					p.D673delinsDSSDSSS		Pindel	.											.	DSPP	174	.	0			c.2018_2019insTAGCAGTGACAGCAGCAG						PASS	.																																			SO:0001652	inframe_insertion	1834	exon5			.	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2019_2036dupTAGCAGTGACAGCAGCAG	4.37:g.88535832_88535833insTAGCAGTGACAGCAGCAG	ENSP00000282478:p.Ser675_Ser680dup	Somatic	349	.	.		WXS	Illumina HiSeq	Phase_I	369	59	0.16	NM_014208	A8MUI0|O95815	In_Frame_Ins	INS	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	alt		0.485	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		TAGCAGTGACAGCAGCAG	88535833	-	TAGCAGTGACAGCAGCAG	88535832	7	5	22	1	0	1	1	0	0	0	0	0	4782	333	12	0	2032	0	DSPP	4	88535832	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1	88535832	102618444	2680	7788	148	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88535868	88535868	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtagcagtgacagcagcaAcagcagtgatagtagtgaca					rs199719429		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535868A>G	ENST00000282478.7	+	4	2087	c.2054A>G	c.(2053-2055)aAc>aGc	p.N685S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N685S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	685	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagcaacagcagtgat	0.483																																					p.N685S		Atlas-SNP	.											DSPP,NS,carcinoma,-1,2	DSPP	174	2	0			c.A2054G						PASS	.						116	132	127					4																	88535868		1684	3089	4773	SO:0001583	missense	1834	exon5			GCAGCAACAGCAG	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2054A>G	4.37:g.88535868A>G	ENSP00000282478:p.Asn685Ser	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	347	59	0.170029	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	-	4.290	0.052936	0.08291	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	1.5	0.247	0.15521	.	.	.	.	.	T	0.69287	0.3094	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54833	-0.8234	9	0.02654	T	1	0.1107	4.5905	0.12304	0.7937:0.0:0.2063:0.0	.	685	Q9NZW4	DSPP_HUMAN	S	685	ENSP00000382213:N685S;ENSP00000282478:N685S	ENSP00000282478:N685S	N	+	2	0	DSPP	88754892	0.003000	0.15002	0.026000	0.17262	0.014000	0.08584	1.419000	0.34793	0.077000	0.16863	0.139000	0.15985	AAC	.	.	weak		0.483	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88535868	A	G	88535868	3	3	22	1	0	0	0	0	1	0	0	0	4782	43	2	2	2068	2	DSPP	4	88535868	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36	88535868	102618408	2681	7789	149	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88535869	88535869	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtagcagtgacagcagcaaCagcagtgatagtagtgacag					rs200233307		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535869C>T	ENST00000282478.7	+	4	2088	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.N685N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	685	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcaacagcagtgata	0.478																																					p.N685N		Atlas-SNP	.											DSPP,NS,carcinoma,0,2	DSPP	174	2	0			c.C2055T						PASS	.						116	132	126					4																	88535869		1685	3089	4774	SO:0001819	synonymous_variant	1834	exon5			CAGCAACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2055C>T	4.37:g.88535869C>T		Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	346	58	0.16763	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88535869	C	T	88535869	2	4	22	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88535869	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	88535869	102618407	2682	7790	149	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88535878	88535878	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagcagcaacagcagtgaTagtagtgacagtagtgacag							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88535878T>C	ENST00000282478.7	+	4	2097	c.2064T>C	c.(2062-2064)gaT>gaC	p.D688D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D688D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	688	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgatagtagtgaca	0.468																																					p.D688D		Atlas-SNP	.											.	DSPP	174	.	0			c.T2064C						PASS	.						118	132	127					4																	88535878		1673	3064	4737	SO:0001819	synonymous_variant	1834	exon5			CAGTGATAGTAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2064T>C	4.37:g.88535878T>C		Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	345	36	0.104348	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	none		0.468	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88535878	T	C	88535878	2	2	22	1	0	0	0	0	0	0	0	1	4782	1403	49	2		2	DSPP	4	88535878	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9	88535878	102618398	2683	7791	149	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536448	88536448	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagcagcaacagcagtgaCagcagtgatagcagtgacag					rs111205175		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	DSPP_ENST00000399271.1_Silent_p.D878D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																					p.D878D		Atlas-SNP	.											.	DSPP	174	.	0			c.C2634T						PASS	.						70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	334	31	0.0928144	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	22	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88536448	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	570	88536448	102617828	2684	7792	150	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536451	88536451	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcaacagcagtgacagCagtgatagcagtgacagcaa					rs111205176|rs149201255		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S879S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																					p.S879S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.C2637T						scavenged	.						71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834	exon5			TGACAGCAGTGAT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T		Somatic	283	1	0.00353357		WXS	Illumina HiSeq	Phase_I	334	35	0.10479	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	22	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536451	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	88536451	102617825	2685	7793	150	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536460	88536460	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagtgacagcagtgatagCagtgacagcaacgaaagcag					rs199691318		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S882S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																					p.S882S		Atlas-SNP	.											.	DSPP	174	.	0			c.C2646T						PASS	.						73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834	exon5			TGATAGCAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	327	29	0.088685	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	22	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536460	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	88536460	102617816	2686	7794	150	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88537198	88537198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatagcagtgacagcagtgaCagcagcgacagcagtgatag	13	8	0	3	rs200796238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88537198C>A	ENST00000282478.7	+	4	3417	c.3384C>A	c.(3382-3384)gaC>gaA	p.D1128E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1128E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1128	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagcgaca	0.562													c|||	1321	0.263778	0.4508	0.3141	5008	,	,		16090	0.1438		0.2167	False		,,,				2504	0.1472				p.D1128E		Atlas-SNP	.											DSPP,NS,lymphoid_neoplasm,+1,1	DSPP	174	1	0			c.C3384A						scavenged	.						16	22	20					4																	88537198		1228	2388	3616	SO:0001583	missense	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3384C>A	4.37:g.88537198C>A	ENSP00000282478:p.Asp1128Glu	Somatic	78	17	0.217949		WXS	Illumina HiSeq	Phase_I	100	40	0.4	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	t	2.566	-0.300758	0.05495	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	1.66	-3.2	0.05156	.	.	.	.	.	T	0.74884	0.3775	L	0.34521	1.04	0.80722	P	0.0	P	0.35714	0.517	B	0.27500	0.08	T	0.66571	-0.5890	8	0.10902	T	0.67	-7.8266	6.7032	0.23236	0.0:0.4356:0.0:0.5644	.	1128	Q9NZW4	DSPP_HUMAN	E	1128	ENSP00000382213:D1128E;ENSP00000282478:D1128E	ENSP00000282478:D1128E	D	+	3	2	DSPP	88756222	0.786000	0.28738	0.017000	0.16124	0.009000	0.06853	-0.054000	0.11826	-1.162000	0.02797	-0.730000	0.03578	GAC	.	.	weak		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537198	C	A	88537198	3	1	22	1	0	0	0	0	1	0	0	0	4782	477	17	4	3398	4	DSPP	4	88537198	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	738	88537198	102617078	2687	7795										
DMP1	1758	hgsc.bcm.edu	37	chr4	88584160	88584160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacagcgaatccagtgaGagcctcaacttctcagagga	11	11	2	3	rs2615497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88584160G>A	ENST00000339673.6	+	6	1329	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	DMP1_ENST00000282479.7_Silent_p.E394E|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	410					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AATCCAGTGAGAGCCTCAACT	0.567													G|||	1609	0.321286	0.4652	0.2061	5008	,	,		20365	0.2589		0.2366	False		,,,				2504	0.3599				p.E410E		Atlas-SNP	.											DMP1,caecum,carcinoma,0,1	DMP1	72	1	0			c.G1230A						PASS	.	G	,	1752,2654	521.9+/-370.6	343,1066,794	77	82	80		1182,1230	3.4	0.9	4	dbSNP_100	80	1930,6670	340.7+/-323.7	209,1512,2579	no	coding-synonymous,coding-synonymous	DMP1	NM_001079911.2,NM_004407.3	,	552,2578,3373	AA,AG,GG		22.4419,39.764,28.31	,	394/498,410/514	88584160	3682,9324	2203	4300	6503	SO:0001819	synonymous_variant	1758	exon6			CAGTGAGAGCCTC	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1230G>A	4.37:g.88584160G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_004407	A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																			G|0.715;A|0.285	0.285	strong		0.567	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			A	88584160	G	A	88584160	2	1	22	1	0	0	0	0	0	0	0	1	4583	933	33	2		2	DMP1	4	88584160	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46962	88584160	102570116	2688	7796										
SPP1	6696	hgsc.bcm.edu	37	chr4	88902725	88902725	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccaggactccattgactcGaacgactctgatgatgtaga	10	10	1	4	rs6812524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88902725G>A	ENST00000395080.3	+	6	442	c.315G>A	c.(313-315)tcG>tcA	p.S105S	SPP1_ENST00000237623.7_Silent_p.S91S|SPP1_ENST00000360804.4_Silent_p.S78S|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	105					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CCATTGACTCGAACGACTCTG	0.458													G|||	367	0.0732827	0.2663	0.0202	5008	,	,		18848	0.0		0.001	False		,,,				2504	0.0				p.S118S		Atlas-SNP	.											.	SPP1	35	.	0			c.G354A						PASS	.	G	,,	885,3521	341.2+/-306.6	88,709,1406	310	286	294		273,315,234	-9.6	0	4	dbSNP_116	294	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	SPP1	NM_000582.2,NM_001040058.1,NM_001040060.1	,,	88,719,5696	AA,AG,GG		0.1163,20.0862,6.8814	,,	91/301,105/315,78/288	88902725	895,12111	2203	4300	6503	SO:0001819	synonymous_variant	6696	exon7			TGACTCGAACGAC		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.315G>A	4.37:g.88902725G>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	269	128	0.475836	NM_001251830	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	ENST00000395080.3	37	CCDS43250.1																																																																																			G|0.921;A|0.079	0.079	strong		0.458	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			A	88902725	G	A	88902725	2	1	22	1	0	0	0	0	0	0	0	1	15085	1045	37	1		1	SPP1	4	88902725	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	318565	88902725	102251551	2689	7797										
SPP1	6696	hgsc.bcm.edu	37	chr4	88903774	88903774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacagccgtgggaaggacaGttatgaaacgagtcagctgg	16	7	1	1	rs7435825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:88903774G>A	ENST00000395080.3	+	7	798	c.671G>A	c.(670-672)aGt>aAt	p.S224N	SPP1_ENST00000237623.7_Missense_Mutation_p.S210N|SPP1_ENST00000360804.4_Missense_Mutation_p.S197N|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	224			S -> N (in dbSNP:rs7435825).		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGGAAGGACAGTTATGAAACG	0.517													G|||	253	0.0505192	0.1861	0.0101	5008	,	,		19566	0.0		0.0	False		,,,				2504	0.0				p.S237N		Atlas-SNP	.											.	SPP1	35	.	0			c.G710A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER	628,3778	269.2+/-268.9	47,534,1622	158	145	149		629,671,590	4	0.6	4	dbSNP_116	149	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense	SPP1	NM_000582.2,NM_001040058.1,NM_001040060.1	46,46,46	47,538,5918	AA,AG,GG		0.0465,14.2533,4.8593	probably-damaging,probably-damaging,probably-damaging	210/301,224/315,197/288	88903774	632,12374	2203	4300	6503	SO:0001583	missense	6696	exon8			AGGACAGTTATGA		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.671G>A	4.37:g.88903774G>A	ENSP00000378517:p.Ser224Asn	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	182	85	0.467033	NM_001251830	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	94	0.04304029304029304	92	0.18699186991869918	2	0.0055248618784530384	0	0.0	0	0.0	G	15.46	2.840614	0.51057	0.142533	4.65E-4	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.84	3.99	0.46301	.	0.332965	0.27563	N	0.018811	T	0.00073	0.0002	L	0.61218	1.895	0.33157	P	0.453592	P;B;P;B;P	0.41366	0.747;0.003;0.594;0.006;0.594	B;B;B;B;B	0.42771	0.397;0.011;0.261;0.028;0.261	T	0.08066	-1.0740	9	0.72032	D	0.01	.	9.3187	0.37950	0.1012:0.0:0.8988:0.0	rs7435825;rs52832944;rs7435825	237;183;210;197;224	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	N	202;183;210;224;197;183	ENSP00000237623:S210N;ENSP00000378517:S224N;ENSP00000354042:S197N;ENSP00000422973:S183N	ENSP00000237623:S210N	S	+	2	0	SPP1	89122798	0.999000	0.42202	0.648000	0.29521	0.342000	0.28953	1.862000	0.39448	1.159000	0.42565	0.453000	0.30009	AGT	G|0.958;A|0.042	0.042	strong		0.517	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			A	88903774	G	A	88903774	3	1	22	1	0	0	0	0	1	0	0	0	15085	1029	36	2	693	2	SPP1	4	88903774	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1049	88903774	102250502	2690	7798										
HERC6	55008	hgsc.bcm.edu	37	chr4	89319296	89319296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatgactttcttttagacTtcgtggatgttcaagtcaaa	7	6	3	2	rs17014118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89319296T>C	ENST00000264346.7	+	8	1086	c.1027T>C	c.(1027-1029)Ttc>Ctc	p.F343L	HERC6_ENST00000380265.5_Missense_Mutation_p.F343L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	343			F -> L (in dbSNP:rs17014118).		hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCTTTTAGACTTCGTGGATGT	0.294													C|||	2780	0.555112	0.826	0.4438	5008	,	,		16215	0.6944		0.173	False		,,,				2504	0.5174				p.F343L		Atlas-SNP	.											.	HERC6	104	.	0			c.T1027C						PASS	.	C	LEU/PHE,LEU/PHE	2599,1033		957,685,174	72	69	70		1027,1027	2.7	0.5	4	dbSNP_123	70	1194,6942		81,1032,2955	yes	missense,missense	HERC6	NM_001165136.1,NM_017912.3	22,22	1038,1717,3129	CC,CT,TT		14.6755,28.4416,32.2315	benign,benign	343/987,343/1023	89319296	3793,7975	1816	4068	5884	SO:0001583	missense	55008	exon8			TTAGACTTCGTGG	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1027T>C	4.37:g.89319296T>C	ENSP00000264346:p.Phe343Leu	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	157	75	0.477707	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	1083|1083	0.4958791208791209|0.4958791208791209	400|400	0.8130081300813008|0.8130081300813008	148|148	0.4088397790055249|0.4088397790055249	414|414	0.7237762237762237|0.7237762237762237	121|121	0.15963060686015831|0.15963060686015831	C|C	0.927|0.927	-0.714008|-0.714008	0.03206|0.03206	0.715584|0.715584	0.146755|0.146755	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000511939;ENST00000264346|ENST00000438983	T;T|.	0.76448|.	-1.02;-1.02|.	4.57|4.57	2.65|2.65	0.31530|0.31530	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);|.	0.476065|.	0.18440|.	N|.	0.141160|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00289|0.00289	-1.7|-1.7	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.15407|0.15407	-1.0438|-1.0438	9|5	0.05959|0.38643	T|T	0.93|0.18	.|.	5.404|5.404	0.16310|0.16310	0.0:0.5673:0.0:0.4327|0.0:0.5673:0.0:0.4327	rs17014118;rs60402487;rs17014118|rs17014118;rs60402487;rs17014118	343;343|.	Q8IVU3-2;Q8IVU3|.	.;HERC6_HUMAN|.	L|P	343|297	ENSP00000369617:F343L;ENSP00000264346:F343L|.	ENSP00000264346:F343L|ENSP00000415718:L297P	F|L	+|+	1|2	0|0	HERC6|HERC6	89538319|89538319	0.034000|0.034000	0.19679|0.19679	0.480000|0.480000	0.27341|0.27341	0.658000|0.658000	0.38924|0.38924	0.319000|0.319000	0.19522|0.19522	0.560000|0.560000	0.29169|0.29169	-0.695000|-0.695000	0.03696|0.03696	TTC|CTT	T|0.490;C|0.510	0.510	strong		0.294	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			C	89319296	T	C	89319296	3	2	22	1	0	0	0	0	1	0	0	0	7062	1609	56	3	854	3	HERC6	4	89319296	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	415522	89319296	101834980	2691	7799										
HERC6	55008	hgsc.bcm.edu	37	chr4	89338691	89338691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccgaacaggatcactgtaAtgttaaagctcttttaggaa	8	7	2	0	rs190243300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89338691A>G	ENST00000264346.7	+	13	1732	c.1673A>G	c.(1672-1674)aAt>aGt	p.N558S	HERC6_ENST00000380265.5_Missense_Mutation_p.N558S	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	558					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATCACTGTAATGTTAAAGCT	0.373													A|||	17	0.00339457	0.0083	0.0043	5008	,	,		17266	0.0		0.003	False		,,,				2504	0.0				p.N558S		Atlas-SNP	.											.	HERC6	104	.	0			c.A1673G						PASS	.	A	SER/ASN,SER/ASN	17,3737		0,17,1860	65	61	62		1673,1673	0.7	0	4		62	5,8207		0,5,4101	yes	missense,missense	HERC6	NM_001165136.1,NM_017912.3	46,46	0,22,5961	GG,GA,AA		0.0609,0.4529,0.1839	benign,benign	558/987,558/1023	89338691	22,11944	1877	4106	5983	SO:0001583	missense	55008	exon13			ACTGTAATGTTAA	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1673A>G	4.37:g.89338691A>G	ENSP00000264346:p.Asn558Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	59	24	0.40678	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	5	0.0022893772893772895	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	6.688	0.495465	0.12762	0.004529	6.09E-4	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.17	4.79	0.721	0.18219	.	0.377680	0.25885	N	0.027670	T	0.12220	0.0297	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.18999	-1.0319	10	0.14252	T	0.57	.	6.1186	0.20139	0.6064:0.3068:0.0867:0.0	.	558;558	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	S	558	ENSP00000369617:N558S;ENSP00000264346:N558S	ENSP00000264346:N558S	N	+	2	0	HERC6	89557714	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.982000	0.29539	0.414000	0.25790	-0.438000	0.05819	AAT	A|0.998;G|0.002	0.002	strong		0.373	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			G	89338691	A	G	89338691	3	3	22	1	0	0	0	0	1	0	0	0	7062	101	4	2	1520	2	HERC6	4	89338691	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19395	89338691	101815585	2692	7800										
NAP1L5	266812	hgsc.bcm.edu	37	chr4	89618415	89618426	+	In_Frame_Del	DEL	GCAGCCTCTGCC	GCAGCCTCTGCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcatgtttggcccccgcgGcagcctctgccgcagcctcc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GCAGCCTCTGCC	GCAGCCTCTGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89618415_89618426delGCAGCCTCTGCC	ENST00000323061.5	-	1	960_971	c.480_491delGGCAGAGGCTGC	c.(478-492)gcggcagaggctgcc>gcc	p.160_164AAEAA>A	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	160	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GGCCCCCGCGGCAGCCTCTGCCGCAGcctcct	0.608																																					p.161_164del		Pindel,Atlas-Indel	.											.	NAP1L5	23	.	0			c.481_492del						PASS	.		,	4,4262		1,2,2130					,	-3.3	0			93	0,8252		0,0,4126	no	coding,intron	HERC3,NAP1L5	NM_153757.2,NM_014606.1	,	1,2,6256	A1A1,A1R,RR		0.0,0.0938,0.032	,	,		4,12514				SO:0001651	inframe_deletion	266812	exon1			.	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.480_491delGGCAGAGGCTGC	4.37:g.89618415_89618426delGCAGCCTCTGCC	ENSP00000320488:p.Ala160_Ala163del	Somatic	279	.	.		WXS	Illumina HiSeq	Phase_I	285	66	0.232	NM_153757		In_Frame_Del	DEL	ENST00000323061.5	37	CCDS3632.1																																																																																			.	.	none		0.608	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		-	89618426	GCAGCCTCTGCC	-	89618415	7	5	22	1	0	1	0	1	0	0	0	0	10160	1203	42	0	61	0	NAP1L5	4	89618415	In_Frame_Del	DEL	GCAGCCTCTGCC	TCGA-G8-6324-01A-11D-2210-10	279724	89618415	101535861	2693	7801										
HERC3	8916	hgsc.bcm.edu	37	chr4	89625427	89625427	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actacaactgggaagaactgGaagaggtaagcacaaaagat	11	6	0	3	rs1804080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89625427G>C	ENST00000402738.1	+	24	3075	c.2836G>C	c.(2836-2838)Gaa>Caa	p.E946Q	HERC3_ENST00000543130.1_Missense_Mutation_p.E390Q|HERC3_ENST00000264345.3_Missense_Mutation_p.E946Q	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	946			E -> Q (in dbSNP:rs1804080).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGAAGAACTGGAAGAGGTAAG	0.512													G|||	933	0.186302	0.1906	0.2017	5008	,	,		17767	0.2381		0.166	False		,,,				2504	0.137				p.E946Q		Atlas-SNP	.											.	HERC3	82	.	0			c.G2836C						PASS	.	G	GLN/GLU	851,3555	334.4+/-303.4	81,689,1433	150	147	148		2836	3.5	0.9	4	dbSNP_89	148	1331,7269	261.6+/-283.9	107,1117,3076	yes	missense	HERC3	NM_014606.1	29	188,1806,4509	CC,CG,GG		15.4767,19.3146,16.7769	probably-damaging	946/1051	89625427	2182,10824	2203	4300	6503	SO:0001583	missense	8916	exon24			GAACTGGAAGAGG	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2836G>C	4.37:g.89625427G>C	ENSP00000385684:p.Glu946Gln	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	184	97	0.527174	NM_014606	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	421	0.19276556776556777	88	0.17886178861788618	67	0.1850828729281768	134	0.23426573426573427	132	0.1741424802110818	G	19.18	3.776833	0.70107	0.193146	0.154767	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	T;T;T	0.57907	0.37;0.37;0.37	5.26	3.51	0.40186	HECT (4);	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	L	0.41079	1.255	0.09310	P	0.99999808362	D	0.89917	1.0	D	0.97110	1.0	T	0.03684	-1.1013	9	0.39692	T	0.17	.	10.8765	0.46915	0.0704:0.1307:0.7989:0.0	rs1804080;rs3737486;rs52837068;rs3737486	946	Q15034	HERC3_HUMAN	Q	946;946;390	ENSP00000385684:E946Q;ENSP00000264345:E946Q;ENSP00000441703:E390Q	ENSP00000264345:E946Q	E	+	1	0	HERC3	89844450	1.000000	0.71417	0.873000	0.34254	0.932000	0.56968	6.588000	0.74076	0.763000	0.33175	0.655000	0.94253	GAA	G|0.801;C|0.199	0.199	strong		0.512	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		C	89625427	G	C	89625427	3	2	22	1	0	0	0	0	1	0	0	0	7059	1175	41	4	2922	4	HERC3	4	89625427	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7012	89625427	101528849	2694	7802										
FAM13A	10144	hgsc.bcm.edu	37	chr4	89653257	89653257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcgtcatcttcgaattgGtccagaaagcatcgtgcact	9	11	3	1	rs1801915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89653257G>A	ENST00000264344.5	-	22	2946	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	FAM13A_ENST00000508369.1_Silent_p.D587D|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000395002.2_Silent_p.D559D|FAM13A_ENST00000511976.1_Silent_p.D499D|FAM13A_ENST00000503556.1_Silent_p.D573D|FAM13A_ENST00000513837.1_Silent_p.D559D	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	913					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTTCGAATTGGTCCAGAAAGC	0.458													G|||	987	0.197085	0.2042	0.1931	5008	,	,		1847	0.2321		0.1561	False		,,,				2504	0.1963				p.D913D		Atlas-SNP	.											.	FAM13A	181	.	0			c.C2739T						PASS	.	G	,	833,3573	329.3+/-301.0	77,679,1447	166	141	149		1761,2739	4.5	1	4	dbSNP_89	149	1261,7339	251.8+/-278.1	96,1069,3135	no	coding-synonymous,coding-synonymous	FAM13A	NM_001015045.1,NM_014883.2	,	173,1748,4582	AA,AG,GG		14.6628,18.906,16.1003	,	587/698,913/1024	89653257	2094,10912	2203	4300	6503	SO:0001819	synonymous_variant	10144	exon22			GAATTGGTCCAGA	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2739C>T	4.37:g.89653257G>A		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	254	116	0.456693	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	CCDS34029.1																																																																																			G|0.831;A|0.169	0.169	strong		0.458	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89653257	G	A	89653257	2	1	22	1	0	0	0	0	0	0	0	1	5452	1252	44	2		2	FAM13A	4	89653257	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27830	89653257	101501019	2695	7803										
FAM13A	10144	hgsc.bcm.edu	37	chr4	89668859	89668859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattccaatgtggcttcaaCactgggctttattgctttat	8	8	1	1	rs7657817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:89668859C>T	ENST00000264344.5	-	18	2512	c.2305G>A	c.(2305-2307)Gtt>Att	p.V769I	FAM13A_ENST00000511976.1_Missense_Mutation_p.V355I|FAM13A_ENST00000508369.1_Missense_Mutation_p.V443I|FAM13A_ENST00000503556.1_Missense_Mutation_p.V429I|FAM13A_ENST00000395002.2_Missense_Mutation_p.V443I|FAM13A_ENST00000513837.1_Missense_Mutation_p.V415I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	769			V -> I (in dbSNP:rs7657817). {ECO:0000269|PubMed:15489334}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTGGCTTCAACACTGGGCTTT	0.498													C|||	1405	0.280551	0.4705	0.232	5008	,	,		17339	0.246		0.1769	False		,,,				2504	0.2004				p.V769I		Atlas-SNP	.											.	FAM13A	181	.	0			c.G2305A						PASS	.	C	ILE/VAL,ILE/VAL	1878,2528	542.2+/-376.0	402,1074,727	158	178	171		1327,2305	2.6	0	4	dbSNP_116	171	1473,7127	280.8+/-294.7	131,1211,2958	yes	missense,missense	FAM13A	NM_001015045.1,NM_014883.2	29,29	533,2285,3685	TT,TC,CC		17.1279,42.6237,25.765	benign,benign	443/698,769/1024	89668859	3351,9655	2203	4300	6503	SO:0001583	missense	10144	exon18			CTTCAACACTGGG	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2305G>A	4.37:g.89668859C>T	ENSP00000264344:p.Val769Ile	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	213	98	0.460094	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	563	0.25778388278388276	212	0.43089430894308944	76	0.20994475138121546	142	0.24825174825174826	133	0.17546174142480211	C	6.635	0.485567	0.12641	0.426237	0.171279	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.47528	0.84;2.12;1.43;1.46;1.43;1.43	5.26	2.56	0.30785	.	0.382752	0.26594	N	0.023510	T	0.00012	0.0000	N	0.25647	0.755	0.23430	P	0.9976995	B;B;B;B;B;B	0.31077	0.052;0.11;0.307;0.084;0.041;0.052	B;B;B;B;B;B	0.24155	0.05;0.028;0.051;0.037;0.037;0.037	T	0.47649	-0.9101	9	0.35671	T	0.21	.	6.4235	0.21756	0.0:0.6571:0.132:0.2109	rs7657817;rs52825255;rs58300926;rs7657817	415;355;769;443;429;443	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	I	443;769;429;355;443;415	ENSP00000378450:V443I;ENSP00000264344:V769I;ENSP00000427189:V429I;ENSP00000421914:V355I;ENSP00000421562:V443I;ENSP00000423252:V415I	ENSP00000264344:V769I	V	-	1	0	FAM13A	89887882	0.977000	0.34250	0.009000	0.14445	0.003000	0.03518	2.603000	0.46266	0.790000	0.33803	-0.878000	0.02970	GTT	C|0.745;T|0.255	0.255	strong		0.498	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89668859	C	T	89668859	3	4	22	1	0	0	0	0	1	0	0	0	5452	478	17	2	794	2	FAM13A	4	89668859	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15602	89668859	101485417	2696	7804										
GPRIN3	285513	hgsc.bcm.edu	37	chr4	90168945	90168945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctttcaatctaacacagAagacggggcaggacggacgc	11	12	2	2	rs34322172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:90168945A>C	ENST00000609438.1	-	2	2835	c.2317T>G	c.(2317-2319)Tct>Gct	p.S773A	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S773A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	773										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTAACACAGAAGACGGGGCA	0.463													A|||	34	0.00678914	0.025	0.0014	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.0				p.S773A		Atlas-SNP	.											.	GPRIN3	90	.	0			c.T2317G						PASS	.	A	ALA/SER	121,4285	90.2+/-128.9	3,115,2085	91	97	95		2317	4.2	0	4	dbSNP_126	95	0,8600		0,0,4300	yes	missense	GPRIN3	NM_198281.2	99	3,115,6385	CC,CA,AA		0.0,2.7463,0.9303	probably-damaging	773/777	90168945	121,12885	2203	4300	6503	SO:0001583	missense	285513	exon2			ACACAGAAGACGG	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2317T>G	4.37:g.90168945A>C	ENSP00000476603:p.Ser773Ala	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	183	93	0.508197	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	A	7.014	0.557400	0.13436	0.027463	0.0	ENSG00000185477	ENST00000333209	T	0.15256	2.44	5.45	4.24	0.50183	.	0.261257	0.20448	N	0.092147	T	0.04543	0.0124	N	0.22421	0.69	0.31631	N	0.649051	B	0.27997	0.197	B	0.31812	0.136	T	0.05616	-1.0874	10	0.87932	D	0	-8.6401	11.9204	0.52789	0.7247:0.2753:0.0:0.0	rs34322172	773	Q6ZVF9	GRIN3_HUMAN	A	773	ENSP00000328672:S773A	ENSP00000328672:S773A	S	-	1	0	GPRIN3	90387968	1.000000	0.71417	0.032000	0.17829	0.031000	0.12232	4.535000	0.60629	1.051000	0.40369	0.533000	0.62120	TCT	A|0.992;C|0.008	0.008	strong		0.463	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		C	90168945	A	C	90168945	3	2	22	1	0	0	0	0	1	0	0	0	6731	246	9	5	17	5	GPRIN3	4	90168945	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	500086	90168945	100985331	2697	7805										
GPRIN3	285513	hgsc.bcm.edu	37	chr4	90169025	90169025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacactgtgctgccttcctCtgagcttcttatttgaagaa	7	10	2	3	rs17015286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:90169025C>T	ENST00000609438.1	-	2	2755	c.2237G>A	c.(2236-2238)aGa>aAa	p.R746K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R746K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	746			R -> K (in dbSNP:rs17015286).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCCTTCCTCTGAGCTTCTT	0.468													T|||	299	0.0597045	0.2163	0.0173	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.001				p.R746K		Atlas-SNP	.											.	GPRIN3	90	.	0			c.G2237A						PASS	.	T	LYS/ARG	800,3606	751.2+/-412.2	79,642,1482	108	110	109		2237	5.3	1	4	dbSNP_123	109	16,8584	818.7+/-406.8	0,16,4284	yes	missense	GPRIN3	NM_198281.2	26	79,658,5766	TT,TC,CC		0.186,18.1571,6.274	benign	746/777	90169025	816,12190	2203	4300	6503	SO:0001583	missense	285513	exon2			CTTCCTCTGAGCT	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2237G>A	4.37:g.90169025C>T	ENSP00000476603:p.Arg746Lys	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	176	92	0.522727	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	112	0.05128205128205128	107	0.21747967479674796	5	0.013812154696132596	0	0.0	0	0.0	T	9.991	1.230900	0.22542	0.181571	0.00186	ENSG00000185477	ENST00000333209	T	0.19394	2.15	5.26	5.26	0.73747	.	0.000000	0.36234	N	0.002708	T	0.00012	0.0000	N	0.01228	-0.945	0.49130	P	2.4299999999999322E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	9	0.02654	T	1	-13.2449	11.2596	0.49074	0.0:0.0711:0.0:0.9289	rs17015286;rs52823204;rs56606122;rs61213802;rs17015286	746	Q6ZVF9	GRIN3_HUMAN	K	746	ENSP00000328672:R746K	ENSP00000328672:R746K	R	-	2	0	GPRIN3	90388048	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.662000	0.61525	1.023000	0.39654	-0.254000	0.11334	AGA	C|0.933;T|0.067	0.067	strong		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90169025	C	T	90169025	3	4	22	1	0	0	0	0	1	0	0	0	6731	913	32	2	97	2	GPRIN3	4	90169025	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	80	90169025	100985251	2698	7806										
GPRIN3	285513	hgsc.bcm.edu	37	chr4	90169925	90169925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcagttgactcttccctcActggagtcattcctgctaac	7	13	3	1	rs7653897	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:90169925A>G	ENST00000609438.1	-	2	1855	c.1337T>C	c.(1336-1338)gTg>gCg	p.V446A	GPRIN3_ENST00000333209.4_Missense_Mutation_p.V446A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	446			V -> A (in dbSNP:rs7653897). {ECO:0000269|PubMed:14702039}.							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCTTCCCTCACTGGAGTCAT	0.468													G|||	3120	0.623003	0.7625	0.3545	5008	,	,		20323	0.5526		0.5686	False		,,,				2504	0.7536				p.V446A		Atlas-SNP	.											.	GPRIN3	90	.	0			c.T1337C						PASS	.	G	ALA/VAL	3194,1212	423.2+/-340.0	1155,884,164	90	91	90		1337	-10.8	0	4	dbSNP_116	90	4653,3947	549.1+/-385.5	1230,2193,877	yes	missense	GPRIN3	NM_198281.2	64	2385,3077,1041	GG,GA,AA		45.8953,27.5079,39.6663	benign	446/777	90169925	7847,5159	2203	4300	6503	SO:0001583	missense	285513	exon2			TCCCTCACTGGAG	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1337T>C	4.37:g.90169925A>G	ENSP00000476603:p.Val446Ala	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	151	64	0.423841	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	1239	0.5673076923076923	360	0.7317073170731707	134	0.3701657458563536	331	0.5786713286713286	414	0.5461741424802111	G	0.011	-1.709431	0.00712	0.724921	0.541047	ENSG00000185477	ENST00000333209	T	0.08458	3.09	5.38	-10.8	0.00216	.	2.155060	0.02835	N	0.127258	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	10.8119	2.4337	0.04477	0.379:0.2827:0.0727:0.2657	rs7653897;rs17774444;rs7653897	446	Q6ZVF9	GRIN3_HUMAN	A	446	ENSP00000328672:V446A	ENSP00000328672:V446A	V	-	2	0	GPRIN3	90388948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.239000	0.01198	-5.479000	0.00014	-3.542000	0.00031	GTG	A|0.398;G|0.602	0.602	strong		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		G	90169925	A	G	90169925	3	3	22	1	0	0	0	0	1	0	0	0	6731	159	6	2	997	2	GPRIN3	4	90169925	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	900	90169925	100984351	2699	7807										
GPRIN3	285513	hgsc.bcm.edu	37	chr4	90170015	90170015	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatgaggttttaaggaccCcacctggtaggctcgcaagt	12	9	0	2	rs114960901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:90170015C>A	ENST00000609438.1	-	2	1765	c.1247G>T	c.(1246-1248)gGg>gTg	p.G416V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.G416V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	416										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTTAAGGACCCCACCTGGTAG	0.507													C|||	41	0.0081869	0.0295	0.0029	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0				p.G416V		Atlas-SNP	.											GPRIN3,colon,carcinoma,+1,1	GPRIN3	90	1	0			c.G1247T						PASS	.	C	VAL/GLY	114,4292	85.8+/-124.5	1,112,2090	108	112	110		1247	2.8	0	4	dbSNP_132	110	1,8599		0,1,4299	yes	missense	GPRIN3	NM_198281.2	109	1,113,6389	AA,AC,CC		0.0116,2.5874,0.8842	benign	416/777	90170015	115,12891	2203	4300	6503	SO:0001583	missense	285513	exon2			AGGACCCCACCTG	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1247G>T	4.37:g.90170015C>A	ENSP00000476603:p.Gly416Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	190	95	0.5	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	10.41	1.341579	0.24339	0.025874	1.16E-4	ENSG00000185477	ENST00000333209	T	0.11385	2.78	5.38	2.81	0.32909	.	0.502634	0.14825	N	0.296209	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34129	-0.9841	10	0.45353	T	0.12	-1.3894	1.9135	0.03292	0.1497:0.0899:0.2415:0.5188	.	416	Q6ZVF9	GRIN3_HUMAN	V	416	ENSP00000328672:G416V	ENSP00000328672:G416V	G	-	2	0	GPRIN3	90389038	0.000000	0.05858	0.014000	0.15608	0.026000	0.11368	-0.091000	0.11146	1.050000	0.40346	-0.290000	0.09829	GGG	C|0.991;A|0.009	0.009	strong		0.507	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		A	90170015	C	A	90170015	3	1	22	1	0	0	0	0	1	0	0	0	6731	623	22	4	1087	4	GPRIN3	4	90170015	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90	90170015	100984261	2700	7808										
FAM190A	401145	hgsc.bcm.edu	37	chr4	91230407	91230407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attatgtctcctgggaaataTaggttagagggtcaatgtag	12	4	2	1	rs34445159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:91230407T>C	ENST00000509176.1	+	2	1260	c.972T>C	c.(970-972)taT>taC	p.Y324Y	CCSER1_ENST00000333691.8_Silent_p.Y324Y|CCSER1_ENST00000432775.2_Silent_p.Y324Y	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	324																	CTGGGAAATATAGGTTAGAGG	0.413													T|||	23	0.00459265	0.0166	0.0014	5008	,	,		20571	0.0		0.0	False		,,,				2504	0.0				p.Y324Y		Atlas-SNP	.											.	.	.	.	0			c.T972C						PASS	.	T	,	68,3690		1,66,1812	124	117	119		972,972	1.3	1	4	dbSNP_126	119	1,8211		0,1,4105	no	coding-synonymous,coding-synonymous	FAM190A	NM_001145065.1,NM_207491.2	,	1,67,5917	CC,CT,TT		0.0122,1.8095,0.5764	,	324/901,324/678	91230407	69,11901	1879	4106	5985	SO:0001819	synonymous_variant	401145	exon2			GAAATATAGGTTA		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.972T>C	4.37:g.91230407T>C		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	218	92	0.422018	NM_001145065	Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	CCDS47099.1																																																																																			T|0.995;C|0.005	0.005	strong		0.413	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		C	91230407	T	C	91230407	2	2	22	1	0	0	0	0	0	0	0	1	5521	1413	49	2		2	FAM190A	4	91230407	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1060392	91230407	99923869	2701	7809										
GRID2	2895	hgsc.bcm.edu	37	chr4	94344042	94344042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttaactacgaaatttacGtagcaccggatcacaaatac	6	9	1	0	rs10034345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:94344042G>A	ENST00000282020.4	+	10	1726	c.1468G>A	c.(1468-1470)Gta>Ata	p.V490I	GRID2_ENST00000510992.1_Missense_Mutation_p.V395I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	490			V -> I (in dbSNP:rs10034345).		cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CGAAATTTACGTAGCACCGGA	0.403													G|||	535	0.106829	0.1823	0.0605	5008	,	,		17501	0.0159		0.0815	False		,,,				2504	0.1575				p.V490I		Atlas-SNP	.											.	GRID2	233	.	0			c.G1468A						PASS	.	G	ILE/VAL	693,3713	291.8+/-281.7	47,599,1557	119	120	120		1468	4.4	1	4	dbSNP_119	120	575,8025	153.6+/-207.9	23,529,3748	yes	missense	GRID2	NM_001510.2	29	70,1128,5305	AA,AG,GG		6.686,15.7286,9.7493	possibly-damaging	490/1008	94344042	1268,11738	2203	4300	6503	SO:0001583	missense	2895	exon10			ATTTACGTAGCAC	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1468G>A	4.37:g.94344042G>A	ENSP00000282020:p.Val490Ile	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	134	58	0.432836	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	161	0.07371794871794872	65	0.13211382113821138	23	0.06353591160220995	0	0.0	73	0.09630606860158311	G	16.99	3.273252	0.59649	0.157286	0.06686	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.10960	2.82;2.82	5.23	4.37	0.52481	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	N	0.11756	0.17	0.19775	P	0.9999567534	B;B	0.31318	0.319;0.319	B;B	0.20577	0.03;0.03	T	0.38887	-0.9640	9	0.56958	D	0.05	.	15.7467	0.77949	0.0:0.137:0.863:0.0	rs10034345;rs52796027;rs10034345	395;490	E9PH24;O43424	.;GRID2_HUMAN	I	490;395	ENSP00000282020:V490I;ENSP00000421257:V395I	ENSP00000282020:V490I	V	+	1	0	GRID2	94563065	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.931000	0.63469	1.177000	0.42855	0.650000	0.86243	GTA	G|0.911;A|0.089	0.089	strong		0.403	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94344042	G	A	94344042	3	1	22	1	0	0	0	0	1	0	0	0	6772	1145	40	1	1506	1	GRID2	4	94344042	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3113635	94344042	96810234	2702	7810										
ATOH1	474	hgsc.bcm.edu	37	chr4	94750227	94750227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagagcatcccgtctacccGcctgagctgtccctcctgga	10	16	1	2	rs138388359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:94750227G>A	ENST00000306011.3	+	1	186	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	50					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCGTCTACCCGCCTGAGCTGT	0.672													G|||	8	0.00159744	0.0061	0.0	5008	,	,		13999	0.0		0.0	False		,,,				2504	0.0				p.P50P		Atlas-SNP	.											.	ATOH1	40	.	0			c.G150A						PASS	.	G		30,4376	32.6+/-62.9	0,30,2173	34	36	35		150	-6.8	0.4	4	dbSNP_134	35	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ATOH1	NM_005172.1		0,31,6470	AA,AG,GG		0.0116,0.6809,0.2384		50/355	94750227	31,12971	2203	4298	6501	SO:0001819	synonymous_variant	474	exon1			CTACCCGCCTGAG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.150G>A	4.37:g.94750227G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	115	52	0.452174	NM_005172	Q14CT9	Silent	SNP	ENST00000306011.3	37	CCDS3638.1																																																																																			A|0.001;G|0.999;T|0.000	0.001	strong		0.672	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		A	94750227	G	A	94750227	2	1	22	1	0	0	0	0	0	0	0	1	1112	1074	38	1		1	ATOH1	4	94750227	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	406185	94750227	96404049	2703	7811										
ATOH1	474	hgsc.bcm.edu	37	chr4	94750650	94750650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatcccgtcgttcaacaaCgacaagaagctgtccaaata	7	11	1	1	rs34543561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:94750650C>T	ENST00000306011.3	+	1	609	c.573C>T	c.(571-573)aaC>aaT	p.N191N		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	191	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGTTCAACAACGACAAGAAGC	0.582													C|||	29	0.00579073	0.0219	0.0	5008	,	,		17596	0.0		0.0	False		,,,				2504	0.0				p.N191N		Atlas-SNP	.											ATOH1,NS,carcinoma,+2,1	ATOH1	40	1	0			c.C573T						PASS	.	C		97,4309	77.8+/-116.1	2,93,2108	53	54	53		573	4.4	1	4	dbSNP_126	53	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ATOH1	NM_005172.1		2,95,6406	TT,TC,CC		0.0233,2.2015,0.7612		191/355	94750650	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	474	exon1			CAACAACGACAAG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.573C>T	4.37:g.94750650C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	192	98	0.510417	NM_005172	Q14CT9	Silent	SNP	ENST00000306011.3	37	CCDS3638.1																																																																																			C|0.992;T|0.008	0.008	strong		0.582	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		T	94750650	C	T	94750650	2	4	22	1	0	0	0	0	0	0	0	1	1112	535	19	1		1	ATOH1	4	94750650	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	423	94750650	96403626	2704	7812										
PDLIM5	10611	hgsc.bcm.edu	37	chr4	95539204	95539204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcggtagcttccacaCggagcatgcccgagagcctg	11	15	0	1	rs141653509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:95539204C>T	ENST00000317968.4	+	8	1106	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	PDLIM5_ENST00000437932.1_Missense_Mutation_p.R215W|PDLIM5_ENST00000514743.1_Missense_Mutation_p.R353W|PDLIM5_ENST00000542407.1_Missense_Mutation_p.R202W|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	324					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGCTTCCACACGGAGCATGCC	0.547													C|||	7	0.00139776	0.0045	0.0	5008	,	,		15988	0.001		0.0	False		,,,				2504	0.0				p.R353W		Atlas-SNP	.											PDLIM5,NS,carcinoma,-1,1	PDLIM5	76	1	0			c.C1057T						PASS	.	C	TRP/ARG,TRP/ARG	25,4381	30.8+/-60.4	0,25,2178	48	48	48		643,970	0.8	0	4	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense	PDLIM5	NM_001011513.2,NM_006457.3	101,101	0,25,6478	TT,TC,CC		0.0,0.5674,0.1922	probably-damaging,probably-damaging	215/488,324/597	95539204	25,12981	2203	4300	6503	SO:0001583	missense	10611	exon12			TCCACACGGAGCA	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.970C>T	4.37:g.95539204C>T	ENSP00000321746:p.Arg324Trp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	115	64	0.556522	NM_001256426	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.95	1.494439	0.26774	0.005674	0.0	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	T;T;T;T;T	0.59364	0.48;0.67;0.48;0.27;0.46	5.14	0.821	0.18799	.	0.458336	0.23654	N	0.045883	T	0.33323	0.0859	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.23490	0.009;0.086;0.005;0.006	B;B;B;B	0.10450	0.002;0.004;0.003;0.005	T	0.29671	-1.0004	10	0.59425	D	0.04	.	2.7512	0.05281	0.4316:0.3432:0.1293:0.0959	.	221;353;324;215	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	W	215;324;221;202;353	ENSP00000398469:R215W;ENSP00000321746:R324W;ENSP00000424297:R221W;ENSP00000442187:R202W;ENSP00000424360:R353W	ENSP00000321746:R324W	R	+	1	2	PDLIM5	95758227	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.059000	0.11731	0.187000	0.20147	0.585000	0.79938	CGG	C|0.999;T|0.001	0.001	strong		0.547	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			T	95539204	C	T	95539204	3	4	22	1	0	0	0	0	1	0	0	0	11683	527	19	1	1156	1	PDLIM5	4	95539204	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	788554	95539204	95615072	2705	7813										
UNC5C	8633	hgsc.bcm.edu	37	chr4	96106322	96106322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctaggagctgtcctcccAtctgtctctcaagatgtaaa	7	12	4	1	rs2289043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:96106322A>G	ENST00000453304.1	-	13	2510	c.2162T>C	c.(2161-2163)aTg>aCg	p.M721T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	721			M -> T (in dbSNP:rs2289043). {ECO:0000269|PubMed:9782087}.		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGTCCTCCCATCTGTCTCTC	0.448													A|||	2477	0.494609	0.0923	0.7507	5008	,	,		17114	0.5694		0.7147	False		,,,				2504	0.5532				p.M721T		Atlas-SNP	.											.	UNC5C	141	.	0			c.T2162C						PASS	.	A	THR/MET	816,3590	325.0+/-298.9	93,630,1480	109	103	105		2162	4.7	1	4	dbSNP_100	105	6041,2559	691.7+/-404.5	2147,1747,406	yes	missense	UNC5C	NM_003728.3	81	2240,2377,1886	GG,GA,AA		29.7558,18.5202,47.2782	benign	721/932	96106322	6857,6149	2203	4300	6503	SO:0001583	missense	8633	exon13			CCTCCCATCTGTC	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2162T>C	4.37:g.96106322A>G	ENSP00000406022:p.Met721Thr	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	133	79	0.593985	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	1191	0.5453296703296703	46	0.09349593495934959	260	0.7182320441988951	341	0.5961538461538461	544	0.7176781002638523	A	15.05	2.718955	0.48622	0.185202	0.702442	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.55413	0.84;0.52	5.87	4.71	0.59529	.	0.129840	0.64402	D	0.000001	T	0.00012	0.0000	L	0.47716	1.5	0.09310	P	1.0	B	0.27791	0.189	B	0.22386	0.039	T	0.41305	-0.9516	9	0.72032	D	0.01	.	11.4162	0.49954	0.9303:0.0:0.0697:0.0	rs2289043;rs52803176;rs57517044;rs2289043	721	O95185	UNC5C_HUMAN	T	721;680;740	ENSP00000406022:M721T;ENSP00000426924:M740T	ENSP00000328673:M680T	M	-	2	0	UNC5C	96325345	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.106000	0.71511	2.251000	0.74343	0.529000	0.55759	ATG	G|0.520;N|0.000	0.520	strong		0.448	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		G	96106322	A	G	96106322	3	3	22	1	0	0	0	0	1	0	0	0	16990	217	8	2	649	2	UNC5C	4	96106322	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	567118	96106322	95047954	2706	7814										
UNC5C	8633	hgsc.bcm.edu	37	chr4	96123981	96123981	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccagcttgaggcgcttCgcagccgctttggtggtgga	16	10	0	1	rs3733212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:96123981C>T	ENST00000453304.1	-	12	2385	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	679					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGAGGCGCTTCGCAGCCGCTT	0.602													C|||	2926	0.584265	0.73	0.5375	5008	,	,		19095	0.3601		0.7167	False		,,,				2504	0.5153				p.A679A		Atlas-SNP	.											.	UNC5C	141	.	0			c.G2037A						PASS	.	C		3146,1260	701.8+/-406.8	1121,904,178	114	109	111		2037	-10.7	0	4	dbSNP_107	111	5962,2638	687.1+/-404.2	2073,1816,411	no	coding-synonymous	UNC5C	NM_003728.3		3194,2720,589	TT,TC,CC		30.6744,28.5974,29.9708		679/932	96123981	9108,3898	2203	4300	6503	SO:0001819	synonymous_variant	8633	exon12			GCGCTTCGCAGCC	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2037G>A	4.37:g.96123981C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	207	207	1	NM_003728	Q8IUT0	Silent	SNP	ENST00000453304.1	37	CCDS3643.1																																																																																			C|0.347;T|0.653	0.653	strong		0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96123981	C	T	96123981	2	4	22	1	0	0	0	0	0	0	0	1	16990	871	31	1		1	UNC5C	4	96123981	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17659	96123981	95030295	2707	7815										
UNC5C	8633	hgsc.bcm.edu	37	chr4	96127869	96127869	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgcatagtgaggacgacTgggcgggtgagcagagctcc	17	8	0	4	rs2276322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:96127869T>G	ENST00000453304.1	-	11	2160	c.1812A>C	c.(1810-1812)ccA>ccC	p.P604P		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	604	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGAGGACGACTGGGCGGGTGA	0.587													G|||	2647	0.528554	0.5514	0.513	5008	,	,		14806	0.3601		0.7068	False		,,,				2504	0.499				p.P604P		Atlas-SNP	.											.	UNC5C	141	.	0			c.A1812C						PASS	.	G		2397,2009	561.4+/-380.7	638,1121,444	74	68	70		1812	-10.6	0.1	4	dbSNP_100	70	5785,2815	441.7+/-359.9	1944,1897,459	no	coding-synonymous	UNC5C	NM_003728.3		2582,3018,903	GG,GT,TT		32.7326,45.5969,37.0906		604/932	96127869	8182,4824	2203	4300	6503	SO:0001819	synonymous_variant	8633	exon11			GACGACTGGGCGG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1812A>C	4.37:g.96127869T>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	137	137	1	NM_003728	Q8IUT0	Silent	SNP	ENST00000453304.1	37	CCDS3643.1																																																																																			T|0.394;G|0.606	0.606	strong		0.587	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		G	96127869	T	G	96127869	2	3	22	1	0	0	0	0	0	0	0	1	16990	1567	55	5		5	UNC5C	4	96127869	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3888	96127869	95026407	2708	7816										
C4orf37	285555	hgsc.bcm.edu	37	chr4	99027137	99027137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaatactattatttcataTagtcgtgggataaatgaaca	7	5	1	1	rs2865979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:99027137T>C	ENST00000295268.3	-	5	668	c.579A>G	c.(577-579)ctA>ctG	p.L193L		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	193																	TTATTTCATATAGTCGTGGGA	0.274													T|||	1880	0.375399	0.4425	0.2882	5008	,	,		15184	0.2758		0.4026	False		,,,				2504	0.4213				p.L193L		Atlas-SNP	.											.	.	.	.	0			c.A579G						PASS	.	T		1962,2436	542.8+/-376.1	451,1060,688	85	88	87		579	1.1	0.9	4	dbSNP_101	87	3402,5194	491.9+/-373.2	692,2018,1588	no	coding-synonymous	C4orf37	NM_174952.2		1143,3078,2276	CC,CT,TT		39.5765,44.6112,41.2806		193/460	99027137	5364,7630	2199	4298	6497	SO:0001819	synonymous_variant	285555	exon5			TTCATATAGTCGT	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.579A>G	4.37:g.99027137T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	110	50	0.454545	NM_174952		Silent	SNP	ENST00000295268.3	37	CCDS3645.1																																																																																			T|0.607;C|0.393	0.393	strong		0.274	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		C	99027137	T	C	99027137	2	2	22	1	0	0	0	0	0	0	0	1	2267	1393	49	2		2	C4orf37	4	99027137	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2899268	99027137	92127139	2709	7817										
C4orf37	285555	hgsc.bcm.edu	37	chr4	99027184	99027184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttgttgatctctcttgaTgttaacattttcataatatg	6	5	3	2	rs2903150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:99027184T>C	ENST00000295268.3	-	5	621	c.532A>G	c.(532-534)Atc>Gtc	p.I178V		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	178			I -> V (in dbSNP:rs2903150).														TCTCTCTTGATGTTAACATTT	0.254													t|||	1879	0.3752	0.4425	0.2882	5008	,	,		15525	0.2748		0.4026	False		,,,				2504	0.4213				p.I178V		Atlas-SNP	.											.	.	.	.	0			c.A532G						PASS	.	C	VAL/ILE	1967,2429	529.8+/-372.8	454,1059,685	81	83	82		532	2.6	1	4	dbSNP_101	82	3400,5194	487.8+/-372.2	692,2016,1589	yes	missense	C4orf37	NM_174952.2	29	1146,3075,2274	CC,CT,TT		39.5625,44.7452,41.3164	benign	178/460	99027184	5367,7623	2198	4297	6495	SO:0001583	missense	285555	exon5			TCTTGATGTTAAC	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.532A>G	4.37:g.99027184T>C	ENSP00000295268:p.Ile178Val	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	760	0.34798534798534797	193	0.39227642276422764	106	0.292817679558011	161	0.28146853146853146	300	0.39577836411609496	t	0.674	-0.800947	0.02841	0.447452	0.395625	ENSG00000163116	ENST00000295268	T	0.11385	2.78	5.04	2.61	0.31194	.	0.361157	0.28712	N	0.014387	T	0.00012	0.0000	L	0.52011	1.625	0.58432	P	8.000000000008E-6	B	0.22746	0.074	B	0.31614	0.133	T	0.46233	-0.9206	9	0.22109	T	0.4	-32.5742	6.054	0.19800	0.1206:0.1463:0.0:0.7331	rs2903150;rs52793168;rs61326598;rs2903150	178	Q8N412	CD037_HUMAN	V	178	ENSP00000295268:I178V	ENSP00000295268:I178V	I	-	1	0	C4orf37	99246207	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	0.706000	0.25690	0.089000	0.17243	-1.245000	0.01525	ATC	T|0.617;C|0.383	0.383	strong		0.254	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		C	99027184	T	C	99027184	3	2	22	1	0	0	0	0	1	0	0	0	2267	1464	51	2	875	2	C4orf37	4	99027184	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47	99027184	92127092	2710	7818										
C4orf37	285555	hgsc.bcm.edu	37	chr4	99049593	99049593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttacaaattgaggtttgtAgtatgctggaccaagtgtac	10	6	0	1	rs17558193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:99049593A>G	ENST00000295268.3	-	3	462	c.373T>C	c.(373-375)Tac>Cac	p.Y125H		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	125			Y -> H (in dbSNP:rs17558193).														TGAGGTTTGTAGTATGCTGGA	0.318													A|||	1879	0.3752	0.4425	0.2882	5008	,	,		16898	0.2748		0.4026	False		,,,				2504	0.4213				p.Y125H		Atlas-SNP	.											.	.	.	.	0			c.T373C						PASS	.	A	HIS/TYR	1973,2433	553.7+/-378.8	454,1065,684	65	62	63		373	5.2	0.7	4	dbSNP_123	63	3409,5189	501.0+/-375.3	694,2021,1584	yes	missense	C4orf37	NM_174952.2	83	1148,3086,2268	GG,GA,AA		39.6488,44.7798,41.3873	probably-damaging	125/460	99049593	5382,7622	2203	4299	6502	SO:0001583	missense	285555	exon3			GTTTGTAGTATGC	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.373T>C	4.37:g.99049593A>G	ENSP00000295268:p.Tyr125His	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	194	92	0.474227	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	759	0.3475274725274725	192	0.3902439024390244	106	0.292817679558011	161	0.28146853146853146	300	0.39577836411609496	A	17.14	3.312649	0.60414	0.447798	0.396488	ENSG00000163116	ENST00000295268	T	0.28666	1.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.66939	2.045	0.28965	P	0.8896	D	0.89917	1.0	D	0.91635	0.999	T	0.47824	-0.9087	9	0.87932	D	0	-19.6536	12.8257	0.57718	1.0:0.0:0.0:0.0	rs17558193;rs52818476;rs17558193	125	Q8N412	CD037_HUMAN	H	125	ENSP00000295268:Y125H	ENSP00000295268:Y125H	Y	-	1	0	C4orf37	99268616	1.000000	0.71417	0.696000	0.30242	0.819000	0.46315	4.980000	0.63812	2.064000	0.61679	0.533000	0.62120	TAC	A|0.611;G|0.389	0.389	strong		0.318	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		G	99049593	A	G	99049593	3	3	22	1	0	0	0	0	1	0	0	0	2267	420	15	3	1042	3	C4orf37	4	99049593	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22409	99049593	92104683	2711	7819										
ADH4	127	hgsc.bcm.edu	37	chr4	100047812	100047812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcagggtatgggtcaccaGtgcatccagattgaatttct	12	8	2	2	rs1126672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100047812G>A	ENST00000265512.7	-	8	1125	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	ADH4_ENST00000508393.1_Silent_p.L370L|ADH4_ENST00000505590.1_Silent_p.L370L|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Silent_p.L370L	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	351					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.L351L(2)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TGGGTCACCAGTGCATCCAGA	0.363													A|||	587	0.117212	0.0696	0.1729	5008	,	,		15373	0.0		0.2773	False		,,,				2504	0.0982				p.L351L		Atlas-SNP	.											ADH4,NS,carcinoma,0,1	ADH4	35	1	2	Substitution - coding silent(2)	prostate(2)	c.C1051T						PASS	.	A		484,3922	781.9+/-414.5	21,442,1740	142	138	139		1051	-3.5	0	4	dbSNP_86	139	2481,6119	696.0+/-404.8	343,1795,2162	no	coding-synonymous	ADH4	NM_000670.3		364,2237,3902	AA,AG,GG		28.8488,10.985,22.7972		351/381	100047812	2965,10041	2203	4300	6503	SO:0001819	synonymous_variant	127	exon8			TCACCAGTGCATC	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1051C>T	4.37:g.100047812G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	136	75	0.551471	NM_000670	A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	CCDS34032.1																																																																																			G|0.824;A|0.176	0.176	strong		0.363	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		A	100047812	G	A	100047812	2	1	22	1	0	0	0	0	0	0	0	1	310	1020	36	2		2	ADH4	4	100047812	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	998219	100047812	91106464	2712	7820										
ADH1B	125	hgsc.bcm.edu	37	chr4	100235053	100235053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcctttagcacttcctgAatgggtttcttgtagtcttg	8	8	2	1	rs1789882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100235053A>G	ENST00000305046.8	-	6	820	c.753T>C	c.(751-753)atT>atC	p.I251I	ADH1B_ENST00000394887.3_Silent_p.I211I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	251					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCACTTCCTGAATGGGTTTCT	0.463													.|||	4155	0.829673	0.7943	0.8213	5008	,	,		17736	0.9157		0.8559	False		,,,				2504	0.7679				p.I251I		Atlas-SNP	.											.	ADH1B	68	.	0			c.T753C						PASS	.	G		3356,1050	376.6+/-322.1	1284,788,131	202	202	202		753	2	0.7	4	dbSNP_89	202	7143,1437	271.2+/-289.4	2991,1161,138	no	coding-synonymous	ADH1B	NM_000668.4		4275,1949,269	GG,GA,AA		16.7483,23.8311,19.1514		251/376	100235053	10499,2487	2203	4290	6493	SO:0001819	synonymous_variant	125	exon6			TTCCTGAATGGGT	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.753T>C	4.37:g.100235053A>G		Somatic	535	0	0		WXS	Illumina HiSeq	Phase_I	528	510	0.965909	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			A|0.177;G|0.823	0.823	strong		0.463	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		G	100235053	A	G	100235053	2	3	22	1	0	0	0	0	0	0	0	1	308	242	9	2		2	ADH1B	4	100235053	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	187241	100235053	90919223	2713	7821										
ADH1B	125	hgsc.bcm.edu	37	chr4	100237169	100237169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcattctcatccaccacCgtgtactgggagaaggtgct	10	12	1	1	rs139645116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100237169C>T	ENST00000305046.8	-	5	520	c.453G>A	c.(451-453)acG>acA	p.T151T	ADH1B_ENST00000394887.3_Silent_p.T111T|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	151					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATCCACCACCGTGTACTGGG	0.582													.|||	13	0.00259585	0.0098	0.0	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0				p.T151T		Atlas-SNP	.											.	ADH1B	68	.	0			c.G453A						PASS	.	C		31,4375	36.0+/-67.5	0,31,2172	131	118	122		453	-7.9	0.1	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ADH1B	NM_000668.4		0,31,6472	TT,TC,CC		0.0,0.7036,0.2384		151/376	100237169	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	125	exon5			CACCACCGTGTAC	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.453G>A	4.37:g.100237169C>T		Somatic	317	1	0.00315457		WXS	Illumina HiSeq	Phase_I	286	137	0.479021	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			C|0.998;T|0.002	0.002	strong		0.582	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		T	100237169	C	T	100237169	2	4	22	1	0	0	0	0	0	0	0	1	308	639	23	1		1	ADH1B	4	100237169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2116	100237169	90917107	2714	7822										
C4orf17	84103	hgsc.bcm.edu	37	chr4	100443853	100443853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacggtgccaaagtgcctccAcggcctcattctggtgagtt	11	12	2	1	rs17029090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100443853A>G	ENST00000326581.4	+	3	686	c.324A>G	c.(322-324)ccA>ccG	p.P108P	C4orf17_ENST00000514652.1_Silent_p.P108P|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	108										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGTGCCTCCACGGCCTCATT	0.507													A|||	599	0.119609	0.2504	0.062	5008	,	,		17252	0.1558		0.0119	False		,,,				2504	0.0573				p.P108P		Atlas-SNP	.											.	C4orf17	42	.	0			c.A324G						PASS	.	A		1020,3386	373.0+/-320.6	132,756,1315	54	54	54		324	-6.9	0	4	dbSNP_123	54	160,8440	75.4+/-138.0	3,154,4143	no	coding-synonymous	C4orf17	NM_032149.2		135,910,5458	GG,GA,AA		1.8605,23.1502,9.0727		108/360	100443853	1180,11826	2203	4300	6503	SO:0001819	synonymous_variant	84103	exon3			GCCTCCACGGCCT	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.324A>G	4.37:g.100443853A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_032149	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	CCDS3649.1																																																																																			A|0.895;G|0.105	0.105	strong		0.507	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		G	100443853	A	G	100443853	2	3	22	1	0	0	0	0	0	0	0	1	2252	146	6	2		2	C4orf17	4	100443853	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	206684	100443853	90710423	2715	7823										
MTTP	4547	hgsc.bcm.edu	37	chr4	100504575	100504575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaatcagcagagaggagaGaagagcatcttcaaaggaaa	13	5	3	4	rs2306986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100504575G>C	ENST00000265517.5	+	3	497	c.294G>C	c.(292-294)gaG>gaC	p.E98D	MTTP_ENST00000511045.1_Missense_Mutation_p.E125D|MTTP_ENST00000422897.2_Missense_Mutation_p.E98D|MTTP_ENST00000457717.1_Missense_Mutation_p.E98D			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	98	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		E -> D (in dbSNP:rs2306986).		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGAGAGGAGAGAAGAGCATCT	0.383													G|||	592	0.118211	0.205	0.072	5008	,	,		16968	0.2143		0.0159	False		,,,				2504	0.0399				p.E98D		Atlas-SNP	.											.	MTTP	127	.	0			c.G294C						PASS	.	G	ASP/GLU	818,3586	319.3+/-296.1	78,662,1462	112	121	118		294	2.7	1	4	dbSNP_100	118	351,8249	117.6+/-177.1	5,341,3954	yes	missense	MTTP	NM_000253.2	45	83,1003,5416	CC,CG,GG		4.0814,18.574,8.9895	benign	98/895	100504575	1169,11835	2202	4300	6502	SO:0001583	missense	4547	exon4			AGGAGAGAAGAGC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.294G>C	4.37:g.100504575G>C	ENSP00000265517:p.Glu98Asp	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	306	142	0.464052	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	276	0.12637362637362637	98	0.1991869918699187	21	0.058011049723756904	142	0.24825174825174826	15	0.01978891820580475	G	11.36	1.614497	0.28712	0.18574	0.040814	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.71	2.66	0.31614	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.311546	0.39687	N	0.001285	T	0.00012	0.0000	N	0.08118	0	0.46167	P	0.0010970000000000146	B;P;P	0.40302	0.202;0.712;0.712	B;B;B	0.39617	0.183;0.159;0.305	T	0.24764	-1.0151	8	.	.	.	-2.4524	4.55	0.12107	0.303:0.0:0.5391:0.1579	rs2306986;rs52838208;rs2306986	125;98;98	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	D	108;125;98;98;98;98	ENSP00000426755:E108D;ENSP00000427679:E125D;ENSP00000400821:E98D;ENSP00000265517:E98D;ENSP00000407350:E98D	.	E	+	3	2	MTTP	100723598	0.683000	0.27633	1.000000	0.80357	0.921000	0.55340	0.170000	0.16663	0.771000	0.33359	-0.140000	0.14226	GAG	G|0.897;C|0.103	0.103	strong		0.383	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			C	100504575	G	C	100504575	3	2	22	1	0	0	0	0	1	0	0	0	9964	933	33	4	304	4	MTTP	4	100504575	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60722	100504575	90649701	2716	7824										
MTTP	4547	hgsc.bcm.edu	37	chr4	100510903	100510903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaagctctggaaccaccaAtgaggtacttaccaatatta	7	9	1	1	rs3792683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100510903A>G	ENST00000265517.5	+	4	700	c.497A>G	c.(496-498)aAt>aGt	p.N166S	MTTP_ENST00000511045.1_Missense_Mutation_p.N193S|MTTP_ENST00000457717.1_Missense_Mutation_p.N166S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	166	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		N -> S (in dbSNP:rs3792683).		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGAACCACCAATGAGGTACTT	0.348													A|||	573	0.114417	0.1929	0.0692	5008	,	,		17528	0.2143		0.0159	False		,,,				2504	0.0389				p.N166S		Atlas-SNP	.											MTTP,NS,carcinoma,-1,1	MTTP	127	1	0			c.A497G						PASS	.	A	SER/ASN	763,3643	309.1+/-290.9	69,625,1509	76	78	77		497	4.1	0.9	4	dbSNP_107	77	351,8249	118.1+/-177.6	5,341,3954	yes	missense	MTTP	NM_000253.2	46	74,966,5463	GG,GA,AA		4.0814,17.3173,8.5653	benign	166/895	100510903	1114,11892	2203	4300	6503	SO:0001583	missense	4547	exon5			CCACCAATGAGGT		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.497A>G	4.37:g.100510903A>G	ENSP00000265517:p.Asn166Ser	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	51	17	0.333333	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	268	0.1227106227106227	91	0.18495934959349594	20	0.055248618784530384	142	0.24825174825174826	15	0.01978891820580475	A	2.852	-0.238086	0.05944	0.173173	0.040814	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T;T	0.14022	2.54;3.56;3.56;3.56	5.35	4.13	0.48395	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.639345	0.17178	N	0.183997	T	0.00012	0.0000	L	0.29908	0.895	0.45194	P	0.0017930000000000446	B;B	0.33777	0.013;0.425	B;B	0.31946	0.03;0.138	T	0.37820	-0.9689	9	0.09338	T	0.73	-25.0927	3.6587	0.08230	0.607:0.2013:0.1916:0.0	rs3792683;rs52834225;rs3792683	193;166	E9PBP6;P55157	.;MTP_HUMAN	S	176;193;166;166;166	ENSP00000426755:N176S;ENSP00000427679:N193S;ENSP00000400821:N166S;ENSP00000265517:N166S	ENSP00000265517:N166S	N	+	2	0	MTTP	100729926	0.014000	0.17966	0.944000	0.38274	0.988000	0.76386	0.371000	0.20450	0.833000	0.34828	0.533000	0.62120	AAT	A|0.901;G|0.099	0.099	strong		0.348	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			G	100510903	A	G	100510903	3	3	22	1	0	0	0	0	1	0	0	0	9964	101	4	2	511	2	MTTP	4	100510903	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6328	100510903	90643373	2717	7825										
MTTP	4547	hgsc.bcm.edu	37	chr4	100512919	100512919	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttggactgaatttcctaCaaaccattaaggggaaaata	7	6	0	1	rs17599091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:100512919C>G	ENST00000265517.5	+	6	933	c.730C>G	c.(730-732)Caa>Gaa	p.Q244E	MTTP_ENST00000511045.1_Missense_Mutation_p.Q271E|MTTP_ENST00000457717.1_Missense_Mutation_p.Q244E			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	244	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		Q -> E (in dbSNP:rs17599091). {ECO:0000269|PubMed:11792722}.		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GAATTTCCTACAAACCATTAA	0.303													C|||	103	0.0205671	0.0477	0.0086	5008	,	,		18429	0.0		0.0239	False		,,,				2504	0.0102				p.Q244E		Atlas-SNP	.											.	MTTP	127	.	0			c.C730G						PASS	.	C	GLU/GLN	240,4166	137.7+/-173.5	7,226,1970	65	64	64		730	3.5	0.6	4	dbSNP_123	64	289,8311	107.0+/-167.8	4,281,4015	yes	missense	MTTP	NM_000253.2	29	11,507,5985	GG,GC,CC		3.3605,5.4471,4.0674	benign	244/895	100512919	529,12477	2203	4300	6503	SO:0001583	missense	4547	exon7			TTCCTACAAACCA		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.730C>G	4.37:g.100512919C>G	ENSP00000265517:p.Gln244Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	150	60	0.4	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	49	0.022435897435897436	25	0.0508130081300813	3	0.008287292817679558	0	0.0	21	0.027704485488126648	C	0.588	-0.834158	0.02713	0.054471	0.033605	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.40225	1.04;1.04;1.04	5.53	3.47	0.39725	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.964707	0.08632	N	0.916909	T	0.05135	0.0137	L	0.38531	1.155	0.09310	N	1	B;B	0.14805	0.003;0.011	B;B	0.19148	0.008;0.024	T	0.25502	-1.0130	10	0.02654	T	1	-25.7225	7.9279	0.29885	0.3471:0.5753:0.0:0.0775	rs17599091;rs52789259	271;244	E9PBP6;P55157	.;MTP_HUMAN	E	271;244;244;244	ENSP00000427679:Q271E;ENSP00000400821:Q244E;ENSP00000265517:Q244E	ENSP00000265517:Q244E	Q	+	1	0	MTTP	100731942	0.044000	0.20184	0.609000	0.28983	0.195000	0.23768	0.419000	0.21247	1.429000	0.47314	0.650000	0.86243	CAA	C|0.964;G|0.036	0.036	strong		0.303	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			G	100512919	C	G	100512919	3	3	22	1	0	0	0	0	1	0	0	0	9964	479	17	4	752	4	MTTP	4	100512919	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2016	100512919	90641357	2718	7826										
EMCN	51705	hgsc.bcm.edu	37	chr4	101386643	101386643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaacacttgttactgttaCgtttgaaatgatggagtcat	9	5	1	2	rs78403369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:101386643C>T	ENST00000296420.4	-	4	491	c.313G>A	c.(313-315)Gta>Ata	p.V105I	EMCN_ENST00000511970.1_Missense_Mutation_p.V105I|EMCN_ENST00000305864.3_Missense_Mutation_p.V105I|EMCN_ENST00000502327.1_5'UTR	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	105	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GTTACTGTTACGTTTGAAATG	0.363													C|||	82	0.0163738	0.0582	0.0043	5008	,	,		18744	0.0		0.002	False		,,,				2504	0.0				p.V105I		Atlas-SNP	.											.	EMCN	37	.	0			c.G313A						PASS	.	C	ILE/VAL,ILE/VAL	256,4150	146.1+/-180.8	8,240,1955	193	169	177		313,313	-5.4	0	4	dbSNP_132	177	32,8568	21.0+/-64.5	0,32,4268	yes	missense,missense	EMCN	NM_001159694.1,NM_016242.3	29,29	8,272,6223	TT,TC,CC		0.3721,5.8103,2.2144	possibly-damaging,possibly-damaging	105/249,105/262	101386643	288,12718	2203	4300	6503	SO:0001583	missense	51705	exon4			CTGTTACGTTTGA	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.313G>A	4.37:g.101386643C>T	ENSP00000296420:p.Val105Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	132	65	0.492424	NM_001159694	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	CCDS3655.1	37	0.01694139194139194	33	0.06707317073170732	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	5.591	0.293797	0.10567	0.058103	0.003721	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000511970;ENST00000502569	.	.	.	3.93	-5.39	0.02664	.	5.984870	0.00541	N	0.000223	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B;B;B	0.25667	0.107;0.131;0.131	B;B;B	0.17098	0.01;0.017;0.017	T	0.06481	-1.0824	9	0.19590	T	0.45	0.1434	13.3485	0.60589	0.0:0.2287:0.0:0.7713	.	105;105;105	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	I	105;105;32;105;105	.	ENSP00000296420:V105I	V	-	1	0	EMCN	101605666	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.676000	0.00840	-1.586000	0.01632	-0.150000	0.13652	GTA	C|0.980;T|0.020	0.020	strong		0.363	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		T	101386643	C	T	101386643	3	4	22	1	0	0	0	0	1	0	0	0	5086	536	19	1	504	1	EMCN	4	101386643	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	873724	101386643	89767633	2719	7827										
PPP3CA	5530	hgsc.bcm.edu	37	chr4	102117083	102117083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacttaccagtgactggCgcatcaatatccagcaaatt	8	11	1	1	rs3730251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:102117083C>T	ENST00000394854.3	-	2	932	c.249G>A	c.(247-249)gcG>gcA	p.A83A	PPP3CA_ENST00000323055.6_Silent_p.A83A|PPP3CA_ENST00000512215.1_Silent_p.A83A|PPP3CA_ENST00000394853.4_Silent_p.A83A|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000507176.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	83	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CAGTGACTGGCGCATCAATAT	0.418													C|||	348	0.0694888	0.2133	0.0115	5008	,	,		17748	0.0446		0.001	False		,,,				2504	0.0123				p.A83A		Atlas-SNP	.											PPP3CA,NS,carcinoma,-1,1	PPP3CA	51	1	0			c.G249A						PASS	.	C	,,	911,3495	347.7+/-309.6	98,715,1390	83	84	83		249,249,249	-11.9	0.1	4	dbSNP_107	83	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous,coding-synonymous,coding-synonymous	PPP3CA	NM_000944.4,NM_001130691.1,NM_001130692.1	,,	98,744,5661	TT,TC,CC		0.3372,20.6764,7.2274	,,	83/522,83/512,83/470	102117083	940,12066	2203	4300	6503	SO:0001819	synonymous_variant	5530	exon2			GACTGGCGCATCA		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.249G>A	4.37:g.102117083C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_000944	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	CCDS34037.1																																																																																			C|0.936;T|0.064	0.064	strong		0.418	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		T	102117083	C	T	102117083	2	4	22	1	0	0	0	0	0	0	0	1	12397	755	27	1		1	PPP3CA	4	102117083	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	730440	102117083	89037193	2720	7828										
BANK1	55024	hgsc.bcm.edu	37	chr4	102751076	102751076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagccatcctgttatatcGcttggagaatttctcttttc	8	9	1	1	rs10516487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:102751076G>A	ENST00000322953.4	+	2	456	c.182G>A	c.(181-183)cGc>cAc	p.R61H	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.R46H|BANK1_ENST00000444316.2_Missense_Mutation_p.R31H|BANK1_ENST00000508653.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	61	Interaction with ITPR2.		R -> H (influences susceptibility to SLE; dbSNP:rs10516487). {ECO:0000269|PubMed:18204447}.		B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTGTTATATCGCTTGGAGAAT	0.353													G|||	1094	0.21845	0.2239	0.1859	5008	,	,		16221	0.1875		0.2972	False		,,,				2504	0.1851				p.R61H		Atlas-SNP	.											.	BANK1	95	.	0			c.G182A	GRCh37	CM080095	BANK1	M	rs10516487	PASS	.	G	HIS/ARG,,HIS/ARG	1075,3331	385.8+/-325.9	139,797,1267	77	78	78	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	92,,182	-1.2	0	4	dbSNP_119	78	2610,5990	420.8+/-353.5	395,1820,2085	yes	missense,intron,missense	BANK1	NM_001083907.2,NM_001127507.2,NM_017935.4	29,,29	534,2617,3352	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	30.3488,24.3985,28.3331	benign,,benign	31/756,,61/786	102751076	3685,9321	2203	4300	6503	SO:0001583	missense	55024	exon2			TATATCGCTTGGA	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.182G>A	4.37:g.102751076G>A	ENSP00000320509:p.Arg61His	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	490	0.22435897435897437	115	0.23373983739837398	74	0.20441988950276244	84	0.14685314685314685	217	0.2862796833773087	G	11.15	1.553737	0.27739	0.243985	0.303488	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09445	2.98;2.98;2.98	5.18	-1.16	0.09678	.	0.869969	0.09740	N	0.762056	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B	0.21753	0.06;0.06	B;B	0.15870	0.014;0.014	T	0.47799	-0.9089	9	0.42905	T	0.14	.	2.2057	0.03935	0.4512:0.1608:0.2727:0.1153	rs10516487;rs17200720;rs56600798;rs56700821;rs10516487	61;46	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	H	46;61;31	ENSP00000421443:R46H;ENSP00000320509:R61H;ENSP00000388817:R31H	ENSP00000320509:R61H	R	+	2	0	BANK1	102970099	0.002000	0.14202	0.001000	0.08648	0.909000	0.53808	0.550000	0.23345	-0.749000	0.04747	0.650000	0.86243	CGC	G|0.748;A|0.252	0.252	strong		0.353	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		A	102751076	G	A	102751076	3	1	22	1	0	0	0	0	1	0	0	0	1309	1087	38	1	188	1	BANK1	4	102751076	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	633993	102751076	88403200	2721	7829										
BANK1	55024	hgsc.bcm.edu	37	chr4	102751276	102751276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatcagctctatgaattaCtaaatatctctcaaagcaga	5	9	4	3	rs10516486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:102751276C>T	ENST00000322953.4	+	2	656	c.382C>T	c.(382-384)Cta>Tta	p.L128L	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Silent_p.L98L|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Silent_p.L113L	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	128	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTATGAATTACTAAATATCTC	0.373													T|||	2706	0.540335	0.7564	0.4813	5008	,	,		15791	0.504		0.3887	False		,,,				2504	0.4836				p.L128L		Atlas-SNP	.											.	BANK1	95	.	0			c.C382T						PASS	.	T	,,	3056,1350	427.2+/-341.4	1066,924,213	59	66	64		292,,382	0	0	4	dbSNP_119	64	3299,5301	642.6+/-399.8	632,2035,1633	no	coding-synonymous,intron,coding-synonymous	BANK1	NM_001083907.2,NM_001127507.2,NM_017935.4	,,	1698,2959,1846	TT,TC,CC		38.3605,30.64,48.8621	,,	98/756,,128/786	102751276	6355,6651	2203	4300	6503	SO:0001819	synonymous_variant	55024	exon2			GAATTACTAAATA	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.382C>T	4.37:g.102751276C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	68	25	0.367647	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	CCDS34038.1																																																																																			C|0.514;T|0.486	0.486	strong		0.373	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		T	102751276	C	T	102751276	2	4	22	1	0	0	0	0	0	0	0	1	1309	564	20	2		2	BANK1	4	102751276	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	200	102751276	88403000	2722	7830										
BANK1	55024	hgsc.bcm.edu	37	chr4	102965016	102965016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttcaacaaaagacagccAgaagacaatctgatgatgac	8	8	2	6	rs140337324		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:102965016A>G	ENST00000322953.4	+	11	2195	c.1921A>G	c.(1921-1923)Aga>Gga	p.R641G	BANK1_ENST00000508653.1_Missense_Mutation_p.R508G|BANK1_ENST00000444316.2_Missense_Mutation_p.R611G|BANK1_ENST00000428908.1_Missense_Mutation_p.R508G|BANK1_ENST00000504592.1_Missense_Mutation_p.R626G	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	641					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGACAGCCAGAAGACAATC	0.333													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16410	0.0		0.0	False		,,,				2504	0.0				p.R641G		Atlas-SNP	.											.	BANK1	95	.	0			c.A1921G						PASS	.	A	GLY/ARG,GLY/ARG,GLY/ARG	7,4399	12.9+/-30.5	0,7,2196	130	137	135		1831,1522,1921	2.8	1	4	dbSNP_134	135	0,8598		0,0,4299	yes	missense,missense,missense	BANK1	NM_001083907.2,NM_001127507.2,NM_017935.4	125,125,125	0,7,6495	GG,GA,AA		0.0,0.1589,0.0538	probably-damaging,probably-damaging,probably-damaging	611/756,508/653,641/786	102965016	7,12997	2203	4299	6502	SO:0001583	missense	55024	exon11			ACAGCCAGAAGAC	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1921A>G	4.37:g.102965016A>G	ENSP00000320509:p.Arg641Gly	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	26	0.433333	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	15.88	2.962531	0.53400	0.001589	0.0	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.4	2.84	0.33178	.	0.152125	0.42172	D	0.000760	T	0.61739	0.2371	L	0.47716	1.5	0.27143	N	0.961604	P;D;D	0.89917	0.951;1.0;1.0	P;D;D	0.87578	0.631;0.998;0.998	T	0.53865	-0.8378	10	0.44086	T	0.13	.	9.7001	0.40180	0.6632:0.3368:0.0:0.0	.	508;641;626	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	G	626;641;508;508;611	ENSP00000421443:R626G;ENSP00000320509:R641G;ENSP00000412748:R508G;ENSP00000422314:R508G;ENSP00000388817:R611G	ENSP00000320509:R641G	R	+	1	2	BANK1	103184039	0.998000	0.40836	0.999000	0.59377	0.930000	0.56654	0.952000	0.29149	0.311000	0.23014	0.402000	0.26972	AGA	A|0.999;G|0.001	0.001	strong		0.333	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		G	102965016	A	G	102965016	3	3	22	1	0	0	0	0	1	0	0	0	1309	180	7	3	1963	3	BANK1	4	102965016	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	213740	102965016	88189260	2723	7831										
SLC39A8	64116	hgsc.bcm.edu	37	chr4	103228734	103228734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagatgccagattaataatCgtcactgacaggaatccata	8	8	1	3	rs35411892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:103228734C>T	ENST00000394833.2	-	3	887	c.411G>A	c.(409-411)acG>acA	p.T137T	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000424970.2_Silent_p.T137T|SLC39A8_ENST00000356736.4_Silent_p.T137T	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	137					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GATTAATAATCGTCACTGACA	0.393													C|||	821	0.163938	0.1604	0.1844	5008	,	,		18210	0.1171		0.1551	False		,,,				2504	0.2117				p.T137T		Atlas-SNP	.											.	SLC39A8	24	.	0			c.G411A						PASS	.	C	,,,	688,3718	280.8+/-275.6	49,590,1564	97	106	103		411,411,210,411	-11.1	0	4	dbSNP_126	103	1514,7086	284.2+/-296.5	122,1270,2908	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A8	NM_001135146.1,NM_001135147.1,NM_001135148.1,NM_022154.5	,,,	171,1860,4472	TT,TC,CC		17.6047,15.6151,16.9306	,,,	137/461,137/445,70/394,137/461	103228734	2202,10804	2203	4300	6503	SO:0001819	synonymous_variant	64116	exon3			AATAATCGTCACT		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.411G>A	4.37:g.103228734C>T		Somatic	239	1	0.0041841		WXS	Illumina HiSeq	Phase_I	318	147	0.462264	NM_022154	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	CCDS3656.1																																																																																			C|0.841;T|0.159	0.159	strong		0.393	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		T	103228734	C	T	103228734	2	4	22	1	0	0	0	0	0	0	0	1	14624	871	31	1		1	SLC39A8	4	103228734	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	263718	103228734	87925542	2724	7832										
NFKB1	4790	hgsc.bcm.edu	37	chr4	103534740	103534741	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaaggcagcaaataggtINSaaaaaaaaagacaaaagaca					rs386357216|rs148268461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:103534740_103534741insA	ENST00000505458.1	+	23	3023		c.e23+2		NFKB1_ENST00000226574.4_Splice_Site|NFKB1_ENST00000600343.1_Splice_Site|NFKB1_ENST00000394820.4_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGCAAATAGGTAAAAAAAAAGA	0.5													?|AAAAAAAAA|AAAAAAAAAA|unsure	422	0.0842652	0.1641	0.0389	5008	,	,		18742	0.0605		0.0696	False		,,,				2504	0.0481				.		Pindel	.											.	NFKB1	78	.	0			c.2746+2->A						PASS	.		,	509,3757		21,467,1645					,	4.8	1		dbSNP_126	29	537,7717		10,517,3600	no	splice-5,splice-5	NFKB1	NM_003998.3,NM_001165412.1	,	31,984,5245	A1A1,A1R,RR		6.5059,11.9316,8.3546	,	,		1046,11474				SO:0001630	splice_region_variant	4790	exon23			.	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2746+2->A	4.37:g.103534749_103534749dupA		Somatic	82	.	.		WXS	Illumina HiSeq	Phase_I	63	17	0.27	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	INS	ENST00000505458.1	37	CCDS54783.1																																																																																			-|0.899;A|0.101	0.101	strong		0.5	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		Intron	A	103534741	-	A	103534740	8	5	22	1	0	1	1	0	0	0	1	0	10375	1652	57	0	2837	0	NFKB1	4	103534740	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	306006	103534740	87619536	2725	7833										
MANBA	4126	hgsc.bcm.edu	37	chr4	103645082	103645082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaacaggatttttgaaacCgtatccactccctcaagaat	6	10	1	3	rs6857760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:103645082C>T	ENST00000226578.4	-	3	414	c.315G>A	c.(313-315)acG>acA	p.T105T	MANBA_ENST00000505239.1_Silent_p.T105T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	105					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTTTTGAAACCGTATCCACTC	0.274													T|||	540	0.107827	0.3752	0.0202	5008	,	,		17866	0.001		0.0219	False		,,,				2504	0.0072				p.T105T		Atlas-SNP	.											.	MANBA	78	.	0			c.G315A						PASS	.	T		1229,3175	695.6+/-406.0	183,863,1156	61	63	62		315	-6	0	4	dbSNP_116	62	151,8449	807.0+/-407.2	3,145,4152	no	coding-synonymous	MANBA	NM_005908.3		186,1008,5308	TT,TC,CC		1.7558,27.9064,10.6121		105/880	103645082	1380,11624	2202	4300	6502	SO:0001819	synonymous_variant	4126	exon3			TGAAACCGTATCC		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.315G>A	4.37:g.103645082C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	192	78	0.40625	NM_005908	Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	CCDS3658.1																																																																																			C|0.893;T|0.107	0.107	strong		0.274	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			T	103645082	C	T	103645082	2	4	22	1	0	0	0	0	0	0	0	1	9219	639	23	1		1	MANBA	4	103645082	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	110342	103645082	87509194	2726	7834										
CENPE	1062	hgsc.bcm.edu	37	chr4	104059542	104059542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttttctctcaggctttccGtaaggtgctgttgtccatca	8	11	3	0	rs2243682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104059542G>A	ENST00000265148.3	-	39	6358	c.6269C>T	c.(6268-6270)aCg>aTg	p.T2090M	CENPE_ENST00000380026.3_Missense_Mutation_p.T1969M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2090			T -> M (in dbSNP:rs2243682). {ECO:0000269|PubMed:1406971}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T2090M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAGGCTTTCCGTAAGGTGCTG	0.393													G|||	550	0.109824	0.0197	0.1153	5008	,	,		18082	0.1409		0.2207	False		,,,				2504	0.0818				p.T2090M		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - Missense(1)	stomach(1)	c.C6269T						PASS	.	G	MET/THR	182,4224	118.0+/-155.7	6,170,2027	241	231	234		6269	0.4	0	4	dbSNP_100	234	1772,6828	320.0+/-314.4	196,1380,2724	yes	missense	CENPE	NM_001813.2	81	202,1550,4751	AA,AG,GG		20.6047,4.1307,15.0238	probably-damaging	2090/2702	104059542	1954,11052	2203	4300	6503	SO:0001583	missense	1062	exon39			CTTTCCGTAAGGT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6269C>T	4.37:g.104059542G>A	ENSP00000265148:p.Thr2090Met	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	324	0.14835164835164835	16	0.032520325203252036	51	0.1408839779005525	74	0.12937062937062938	183	0.24142480211081793	G	10.54	1.379672	0.24944	0.041307	0.206047	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72394	-0.65;-0.61	4.34	0.381	0.16228	.	.	.	.	.	T	0.00039	0.0001	L	0.44542	1.39	0.80722	P	0.0	P;B	0.37398	0.593;0.297	B;B	0.22386	0.039;0.015	T	0.01401	-1.1364	8	0.45353	T	0.12	.	6.5724	0.22545	0.4583:0.0:0.5417:0.0	rs2243682;rs52801440;rs58953735;rs2243682	1969;2090	Q02224-3;Q02224	.;CENPE_HUMAN	M	2090;2090;1969	ENSP00000265148:T2090M;ENSP00000369365:T1969M	ENSP00000265148:T2090M	T	-	2	0	CENPE	104278991	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	-0.164000	0.09983	0.137000	0.18759	0.544000	0.68410	ACG	G|0.855;A|0.145	0.145	strong		0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104059542	G	A	104059542	3	1	22	1	0	0	0	0	1	0	0	0	3230	1145	40	1	1880	1	CENPE	4	104059542	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	414460	104059542	87094734	2727	7835										
CENPE	1062	hgsc.bcm.edu	37	chr4	104066461	104066461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actaatttgttttatattaaAttgttcctctttctcataaa	2	6	2	0	rs2615542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104066461A>G	ENST00000265148.3	-	32	4692	c.4603T>C	c.(4603-4605)Ttt>Ctt	p.F1535L	CENPE_ENST00000380026.3_Missense_Mutation_p.F1510L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1535			F -> L (in dbSNP:rs2615542). {ECO:0000269|PubMed:1406971}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.F1535L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATATTAAATTGTTCCTCT	0.299													G|||	607	0.121206	0.062	0.1153	5008	,	,		16276	0.1409		0.2207	False		,,,				2504	0.0828				p.F1535L		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - Missense(1)	stomach(1)	c.T4603C						PASS	.	G	LEU/PHE	281,4121	778.4+/-414.3	8,265,1928	47	46	46		4603	-2.4	0	4	dbSNP_100	46	1768,6828	720.6+/-406.3	195,1378,2725	yes	missense	CENPE	NM_001813.2	22	203,1643,4653	GG,GA,AA		20.5677,6.3835,15.764	benign	1535/2702	104066461	2049,10949	2201	4298	6499	SO:0001583	missense	1062	exon32			TATTAAATTGTTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4603T>C	4.37:g.104066461A>G	ENSP00000265148:p.Phe1535Leu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	90	41	0.455556	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	347	0.15888278388278387	39	0.07926829268292683	51	0.1408839779005525	74	0.12937062937062938	183	0.24142480211081793	G	0.006	-2.062430	0.00386	0.063835	0.205677	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.62639	0.01;0.15	4.44	-2.42	0.06542	.	.	.	.	.	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07654	-1.0761	8	0.02654	T	1	.	0.4903	0.00563	0.3766:0.2373:0.1466:0.2394	rs2615542;rs17282727;rs52815493;rs60897952;rs2615542	1510;1535	Q02224-3;Q02224	.;CENPE_HUMAN	L	1535;1535;1510	ENSP00000265148:F1535L;ENSP00000369365:F1510L	ENSP00000265148:F1535L	F	-	1	0	CENPE	104285910	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.886000	0.04157	-0.433000	0.07286	-0.231000	0.12243	TTT	A|0.848;G|0.152	0.152	strong		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104066461	A	G	104066461	3	3	22	1	0	0	0	0	1	0	0	0	3230	101	4	2	3574	2	CENPE	4	104066461	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6919	104066461	87087815	2728	7836										
CENPE	1062	hgsc.bcm.edu	37	chr4	104070041	104070041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatttttctaagtcctgaGtatttattatttgagctgtc	9	5	1	2	rs79431579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104070041G>A	ENST00000265148.3	-	28	3892	c.3803C>T	c.(3802-3804)aCt>aTt	p.T1268I	CENPE_ENST00000380026.3_Missense_Mutation_p.T1243I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1268					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAAGTCCTGAGTATTTATTAT	0.338													G|||	53	0.0105831	0.0318	0.0101	5008	,	,		19012	0.0		0.001	False		,,,				2504	0.0031				p.T1268I		Atlas-SNP	.											.	CENPE	253	.	0			c.C3803T						PASS	.	G	ILE/THR	160,4246	106.9+/-145.3	4,152,2047	138	143	141		3803	-6.5	0	4	dbSNP_131	141	15,8585	10.5+/-38.8	0,15,4285	yes	missense	CENPE	NM_001813.2	89	4,167,6332	AA,AG,GG		0.1744,3.6314,1.3455	benign	1268/2702	104070041	175,12831	2203	4300	6503	SO:0001583	missense	1062	exon28			TCCTGAGTATTTA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3803C>T	4.37:g.104070041G>A	ENSP00000265148:p.Thr1268Ile	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	185	92	0.497297	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	24	0.01098901098901099	20	0.04065040650406504	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	11.01	1.512446	0.27123	0.036314	0.001744	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.06	-6.52	0.01872	.	.	.	.	.	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14364	-1.0475	9	0.16896	T	0.51	.	6.5259	0.22301	0.2333:0.0:0.5348:0.232	.	1243;1268	Q02224-3;Q02224	.;CENPE_HUMAN	I	1268;1268;1243	ENSP00000265148:T1268I;ENSP00000369365:T1243I	ENSP00000265148:T1268I	T	-	2	0	CENPE	104289490	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	-1.463000	0.02361	-1.120000	0.02953	-1.155000	0.01812	ACT	G|0.985;A|0.015	0.015	strong		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104070041	G	A	104070041	3	1	22	1	0	0	0	0	1	0	0	0	3230	1029	36	2	4390	2	CENPE	4	104070041	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3580	104070041	87084235	2729	7837										
CENPE	1062	hgsc.bcm.edu	37	chr4	104080217	104080217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatttttgggcttctttagAgagattaactatttcctgat	7	5	1	3	rs75568479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104080217A>C	ENST00000265148.3	-	22	2640	c.2551T>G	c.(2551-2553)Tct>Gct	p.S851A	CENPE_ENST00000380026.3_Missense_Mutation_p.S826A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	851					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCTTCTTTAGAGAGATTAACT	0.373													A|||	53	0.0105831	0.0318	0.0101	5008	,	,		17002	0.0		0.001	False		,,,				2504	0.0031				p.S851A		Atlas-SNP	.											.	CENPE	253	.	0			c.T2551G						PASS	.	A	ALA/SER	160,4246	105.6+/-144.1	4,152,2047	77	74	75		2551	4.9	0.1	4	dbSNP_131	75	15,8585	9.8+/-36.6	0,15,4285	yes	missense	CENPE	NM_001813.2	99	4,167,6332	CC,CA,AA		0.1744,3.6314,1.3455	probably-damaging	851/2702	104080217	175,12831	2203	4300	6503	SO:0001583	missense	1062	exon22			CTTTAGAGAGATT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2551T>G	4.37:g.104080217A>C	ENSP00000265148:p.Ser851Ala	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	204	107	0.52451	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	24	0.01098901098901099	20	0.04065040650406504	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	A	11.57	1.679425	0.29783	0.036314	0.001744	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.81163	-1.46;-1.46;-1.46	4.94	4.94	0.65067	.	.	.	.	.	T	0.51024	0.1650	M	0.62723	1.935	0.18873	N	0.999984	P;P	0.48089	0.732;0.905	B;B	0.41988	0.372;0.369	T	0.61471	-0.7056	9	0.32370	T	0.25	.	14.9037	0.70699	1.0:0.0:0.0:0.0	.	826;851	Q02224-3;Q02224	.;CENPE_HUMAN	A	851;851;826;851	ENSP00000265148:S851A;ENSP00000369365:S826A;ENSP00000423981:S851A	ENSP00000265148:S851A	S	-	1	0	CENPE	104299666	0.997000	0.39634	0.084000	0.20598	0.866000	0.49608	2.194000	0.42668	1.971000	0.57363	0.477000	0.44152	TCT	A|0.985;C|0.015	0.015	strong		0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104080217	A	C	104080217	3	2	22	1	0	0	0	0	1	0	0	0	3230	304	11	5	5666	5	CENPE	4	104080217	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10176	104080217	87074059	2730	7838										
CENPE	1062	hgsc.bcm.edu	37	chr4	104102563	104102563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagagcttcatcagttgaTacctcattaacataaggagt	9	7	3	2	rs17217250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104102563T>C	ENST00000265148.3	-	12	1103	c.1014A>G	c.(1012-1014)gtA>gtG	p.V338V	CENPE_ENST00000380026.3_Silent_p.V338V|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	338					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.V338V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATCAGTTGATACCTCATTAA	0.294													T|||	599	0.119609	0.0552	0.1153	5008	,	,		14600	0.1419		0.2207	False		,,,				2504	0.0828				p.V338V		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - coding silent(1)	stomach(1)	c.A1014G						PASS	.	T		250,4146	142.3+/-177.5	8,234,1956	62	62	62		1014	-3.2	1	4	dbSNP_123	62	1770,6810	313.0+/-311.1	193,1384,2713	no	coding-synonymous	CENPE	NM_001813.2		201,1618,4669	CC,CT,TT		20.6294,5.687,15.5672		338/2702	104102563	2020,10956	2198	4290	6488	SO:0001819	synonymous_variant	1062	exon12			AGTTGATACCTCA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1014A>G	4.37:g.104102563T>C		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	344	168	0.488372	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			T|0.840;C|0.160	0.160	strong		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104102563	T	C	104102563	2	2	22	1	0	0	0	0	0	0	0	1	3230	1393	49	2		2	CENPE	4	104102563	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22346	104102563	87051713	2731	7839										
CENPE	1062	hgsc.bcm.edu	37	chr4	104117191	104117191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgtccataggcaaatatAgtacctgcaaaaaacaaaac	6	9	1	0	rs2290943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:104117191A>G	ENST00000265148.3	-	4	332	c.243T>C	c.(241-243)acT>acC	p.T81T	CENPE_ENST00000380026.3_Silent_p.T81T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	81	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T81T(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGCAAATATAGTACCTGCAA	0.378													A|||	600	0.119808	0.0552	0.1153	5008	,	,		19569	0.1429		0.2207	False		,,,				2504	0.0828				p.T81T		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - coding silent(1)	stomach(1)	c.T243C						PASS	.	A		252,4154	146.5+/-181.1	8,236,1959	95	88	91		243	-8.4	0.9	4	dbSNP_100	91	1775,6825	319.7+/-314.3	196,1383,2721	no	coding-synonymous	CENPE	NM_001813.2		204,1619,4680	GG,GA,AA		20.6395,5.7195,15.5851		81/2702	104117191	2027,10979	2203	4300	6503	SO:0001819	synonymous_variant	1062	exon4			AAATATAGTACCT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.243T>C	4.37:g.104117191A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	38	0.513514	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			A|0.848;G|0.152	0.152	strong		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104117191	A	G	104117191	2	3	22	1	0	0	0	0	0	0	0	1	3230	407	15	3		3	CENPE	4	104117191	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14628	104117191	87037085	2732	7840										
TET2	54790	hgsc.bcm.edu	37	chr4	106155751	106155751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacagtttctgcctcttccGtggaacacacacatggtgaa	8	12	2	1	rs6843141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106155751G>A	ENST00000540549.1	+	3	1512	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	TET2_ENST00000394764.1_Missense_Mutation_p.V218M|TET2_ENST00000305737.2_Missense_Mutation_p.V218M|TET2_ENST00000380013.4_Missense_Mutation_p.V218M|TET2_ENST00000413648.2_Missense_Mutation_p.V218M|TET2_ENST00000513237.1_Missense_Mutation_p.V239M|TET2_ENST00000545826.1_Missense_Mutation_p.V218M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	218			V -> M (in dbSNP:rs6843141). {ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:19483684}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCCTCTTCCGTGGAACACAC	0.418			"Mis N, F"		MDS								A|||	518	0.103435	0.2882	0.0274	5008	,	,		24127	0.0615		0.0239	False		,,,				2504	0.0327				p.V218M		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	0			c.G652A						PASS	.	A	MET/VAL,MET/VAL	1253,3153	703.3+/-407.0	194,865,1144	85	75	78		652,652	2.4	1	4	dbSNP_116	78	180,8420	810.9+/-407.1	2,176,4122	yes	missense,missense	TET2	NM_001127208.2,NM_017628.4	21,21	196,1041,5266	AA,AG,GG		2.093,28.4385,11.018	benign,benign	218/2003,218/1166	106155751	1433,11573	2203	4300	6503	SO:0001583	missense	54790	exon3			TCTTCCGTGGAAC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.652G>A	4.37:g.106155751G>A	ENSP00000442788:p.Val218Met	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	225	0.10302197802197802	157	0.31910569105691056	13	0.03591160220994475	39	0.06818181818181818	16	0.021108179419525065	A	0.111	-1.138831	0.01742	0.284385	0.02093	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03496	3.91;4.49;3.91;4.49;4.49;3.91;3.92	4.95	2.44	0.29823	.	1.590140	0.04491	N	0.379479	T	0.00012	0.0000	N	0.04203	-0.255	0.58432	P	1.0000000000287557E-6	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.43507	-0.9387	9	0.02654	T	1	.	5.3304	0.15930	0.6876:0.1492:0.1631:0.0	rs6843141;rs52821391;rs57504518;rs6843141	239;218;218	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	M	218;218;218;239;218;218;218;218	ENSP00000306705:V218M;ENSP00000442788:V218M;ENSP00000442867:V218M;ENSP00000425443:V239M;ENSP00000369351:V218M;ENSP00000378245:V218M;ENSP00000391448:V218M	ENSP00000265149:V218M	V	+	1	0	TET2	106375200	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.756000	0.26419	-0.034000	0.13713	-0.254000	0.11334	GTG	G|0.879;A|0.121	0.121	strong		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106155751	G	A	106155751	3	1	22	1	0	0	0	0	1	0	0	0	15767	1145	40	1	654	1	TET2	4	106155751	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2038560	106155751	84998525	2733	7841										
TET2	54790	hgsc.bcm.edu	37	chr4	106156983	106156983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaaacaacacagctggaGcacaagtcacaaatgtacca	7	11	1	1	rs35695427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106156983G>A	ENST00000540549.1	+	3	2744	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	TET2_ENST00000394764.1_Silent_p.E628E|TET2_ENST00000305737.2_Silent_p.E628E|TET2_ENST00000380013.4_Silent_p.E628E|TET2_ENST00000413648.2_Silent_p.E628E|TET2_ENST00000513237.1_Silent_p.E649E|TET2_ENST00000545826.1_Silent_p.E628E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	628	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACAGCTGGAGCACAAGTCAC	0.478			"Mis N, F"		MDS								G|||	65	0.0129792	0.0484	0.0014	5008	,	,		20615	0.0		0.0	False		,,,				2504	0.0				p.E628E		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	TET2_ENST00000305737,bladder,carcinoma,+2,2	TET2	1762	2	0			c.G1884A						PASS	.	G	,	225,4181	136.1+/-172.1	11,203,1989	70	71	71		1884,1884	0	0.1	4	dbSNP_126	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TET2	NM_001127208.2,NM_017628.4	,	11,205,6287	AA,AG,GG		0.0233,5.1067,1.7453	,	628/2003,628/1166	106156983	227,12779	2203	4300	6503	SO:0001819	synonymous_variant	54790	exon3			GCTGGAGCACAAG	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1884G>A	4.37:g.106156983G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	136	71	0.522059	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	G	0.008	-1.911390	0.00508	0.051067	2.33E-4	ENSG00000168769	ENST00000535110	.	.	.	5.59	-0.00446	0.14022	.	.	.	.	.	T	0.02380	0.0073	.	.	.	0.48341	D	0.999636	.	.	.	.	.	.	T	0.27157	-1.0082	5	0.02654	T	1	.	1.5409	0.02555	0.3344:0.1288:0.389:0.1477	rs35695427	.	.	.	N	628	.	ENSP00000438851:S628N	S	+	2	0	TET2	106376432	0.996000	0.38824	0.083000	0.20561	0.103000	0.19146	0.236000	0.17967	0.243000	0.21327	-0.143000	0.13931	AGC	G|0.982;A|0.018	0.018	strong		0.478	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106156983	G	A	106156983	2	1	22	1	0	0	0	0	0	0	0	1	15767	962	34	2		2	TET2	4	106156983	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1232	106156983	84997293	2734	7842										
TET2	54790	hgsc.bcm.edu	37	chr4	106158216	106158216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagtttcacgccaagtcGttatttgaccataaggctct	8	10	2	1	rs3796927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106158216G>A	ENST00000540549.1	+	3	3977	c.3117G>A	c.(3115-3117)tcG>tcA	p.S1039S	TET2_ENST00000394764.1_Silent_p.S1039S|TET2_ENST00000413648.2_Silent_p.S1039S|TET2_ENST00000305737.2_Silent_p.S1039S|TET2_ENST00000380013.4_Silent_p.S1039S|TET2_ENST00000513237.1_Silent_p.S1060S|TET2_ENST00000545826.1_Silent_p.S1039S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1039					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.K1038fs*14(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACGCCAAGTCGTTATTTGACC	0.438			"Mis N, F"		MDS								G|||	454	0.090655	0.2791	0.0173	5008	,	,		22756	0.0615		0.0089	False		,,,				2504	0.002				p.S1039S		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2	1762	.	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	c.G3117A						PASS	.	G	,	1176,3230	413.9+/-336.6	172,832,1199	84	77	79		3117,3117	-9.7	0	4	dbSNP_107	79	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous,coding-synonymous	TET2	NM_001127208.2,NM_017628.4	,	172,849,5482	AA,AG,GG		0.1977,26.6909,9.1727	,	1039/2003,1039/1166	106158216	1193,11813	2203	4300	6503	SO:0001819	synonymous_variant	54790	exon3			CAAGTCGTTATTT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3117G>A	4.37:g.106158216G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	159	69	0.433962	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																			G|0.895;A|0.105	0.105	strong		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106158216	G	A	106158216	2	1	22	1	0	0	0	0	0	0	0	1	15767	1132	40	1		1	TET2	4	106158216	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1233	106158216	84996060	2735	7843										
TET2	54790	hgsc.bcm.edu	37	chr4	106190862	106190862	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttggacttctgtgctcaTgcccacagagacttgcacaa	9	11	2	1	rs3733609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106190862T>C	ENST00000540549.1	+	9	5000	c.4140T>C	c.(4138-4140)caT>caC	p.H1380H	TET2_ENST00000380013.4_Silent_p.H1380H|TET2_ENST00000513237.1_Silent_p.H1401H|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1380					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTGTGCTCATGCCCACAGAG	0.498			"Mis N, F"		MDS								T|||	560	0.111821	0.3578	0.0202	5008	,	,		19165	0.0615		0.0089	False		,,,				2504	0.002				p.H1380H		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	TET2,NS,haematopoietic_neoplasm,+2,8	TET2	1762	8	0			c.T4140C						scavenged	.	T		467,917		82,303,307	101	87	91		4140	-8	0.7	4	dbSNP_107	91	6,3176		0,6,1585	no	coding-synonymous	TET2	NM_001127208.2		82,309,1892	CC,CT,TT		0.1886,33.7428,10.3592		1380/2003	106190862	473,4093	692	1591	2283	SO:0001819	synonymous_variant	54790	exon9			TGCTCATGCCCAC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4140T>C	4.37:g.106190862T>C		Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	183	84	0.459016	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																			T|0.866;C|0.134	0.134	strong		0.498	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		C	106190862	T	C	106190862	2	2	22	1	0	0	0	0	0	0	0	1	15767	1461	51	2		2	TET2	4	106190862	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32646	106190862	84963414	2736	7844										
NPNT	255743	hgsc.bcm.edu	37	chr4	106819089	106819089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatagtgtcatcgattggcCtatgtcgttatggtgggagg	14	5	1	0	rs147630398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106819089C>T	ENST00000379987.2	+	2	319	c.103C>T	c.(103-105)Cta>Tta	p.L35L	NPNT_ENST00000514622.1_Silent_p.L35L|NPNT_ENST00000506666.1_Silent_p.L35L|NPNT_ENST00000427316.2_Silent_p.L35L|NPNT_ENST00000453617.2_Silent_p.L35L|NPNT_ENST00000305572.8_Silent_p.L35L	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	35					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ATCGATTGGCCTATGTCGTTA	0.468													C|||	7	0.00139776	0.0	0.0029	5008	,	,		18023	0.0		0.002	False		,,,				2504	0.0031				p.L35L		Atlas-SNP	.											.	NPNT	69	.	0			c.C103T						PASS	.	C	,,,,	2,4404	4.2+/-10.8	0,2,2201	135	123	127		103,103,103,103,103	5.8	1	4	dbSNP_134	127	13,8587	9.8+/-36.6	0,13,4287	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPNT	NM_001033047.2,NM_001184690.1,NM_001184691.1,NM_001184692.1,NM_001184693.1	,,,,	0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153	,,,,	35/566,35/583,35/596,35/537,35/567	106819089	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	255743	exon2			ATTGGCCTATGTC		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.103C>T	4.37:g.106819089C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	205	113	0.55122	NM_001184692	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	CCDS34046.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	6.225	0.409722	0.11812	4.54E-4	0.001512	ENSG00000168743	ENST00000514837	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59700	-0.7405	4	.	.	.	.	12.8916	0.58073	0.0:0.9222:0.0:0.0778	.	.	.	.	L	11	.	.	P	+	2	0	NPNT	107038538	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	1.277000	0.33167	2.746000	0.94184	0.655000	0.94253	CCT	C|0.999;T|0.001	0.001	strong		0.468	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		T	106819089	C	T	106819089	2	4	22	1	0	0	0	0	0	0	0	1	10590	680	24	2		2	NPNT	4	106819089	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	628227	106819089	84335187	2737	7845										
NPNT	255743	hgsc.bcm.edu	37	chr4	106859549	106859549	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccatcccctggcctgcaGctggctcctgatgggaggac	13	15	0	1	rs35132891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:106859549G>C	ENST00000379987.2	+	5	693	c.477G>C	c.(475-477)caG>caC	p.Q159H	NPNT_ENST00000453617.2_Missense_Mutation_p.Q176H|NPNT_ENST00000305572.8_Missense_Mutation_p.Q159H|NPNT_ENST00000427316.2_Missense_Mutation_p.Q189H|NPNT_ENST00000506666.1_Missense_Mutation_p.Q189H|NPNT_ENST00000514622.1_Missense_Mutation_p.Q159H	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	159	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		Q -> H (in dbSNP:rs35132891). {ECO:0000269|PubMed:12975309}.		branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CTGGCCTGCAGCTGGCTCCTG	0.517													G|||	1626	0.324681	0.4607	0.3329	5008	,	,		17415	0.1825		0.334	False		,,,				2504	0.272				p.Q189H		Atlas-SNP	.											.	NPNT	69	.	0			c.G567C						PASS	.	G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	1810,2596	530.8+/-373.0	369,1072,762	70	66	67		477,528,567,477,567	3.5	1	4	dbSNP_126	67	2797,5803	443.5+/-360.4	457,1883,1960	yes	missense,missense,missense,missense,missense	NPNT	NM_001033047.2,NM_001184690.1,NM_001184691.1,NM_001184692.1,NM_001184693.1	24,24,24,24,24	826,2955,2722	CC,CG,GG		32.5233,41.0803,35.4221	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/566,176/583,189/596,159/537,189/567	106859549	4607,8399	2203	4300	6503	SO:0001583	missense	255743	exon6			CCTGCAGCTGGCT		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.477G>C	4.37:g.106859549G>C	ENSP00000369323:p.Gln159His	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	51	51	1	NM_001184691	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	692|692	0.31684981684981683|0.31684981684981683	212|212	0.43089430894308944|0.43089430894308944	127|127	0.35082872928176795|0.35082872928176795	113|113	0.19755244755244755|0.19755244755244755	240|240	0.316622691292876|0.316622691292876	G|G	17.26|17.26	3.344923|3.344923	0.61073|0.61073	0.410803|0.410803	0.325233|0.325233	ENSG00000168743|ENSG00000168743	ENST00000514837|ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.|T;D;D;D;D;D;D;D	.|0.87491	.|1.3;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.22|5.22	3.49|3.49	0.39957|0.39957	.|Epidermal growth factor-like (1);	.|0.049867	.|0.85682	.|D	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.65975|0.65975	2.015|2.015	0.26849|0.26849	P|P	0.9681974|0.9681974	.|D;B;B;D;B;D;D	.|0.69078	.|0.997;0.112;0.23;0.989;0.23;0.996;0.995	.|D;B;B;D;B;D;D	.|0.66847	.|0.931;0.082;0.082;0.921;0.082;0.93;0.947	T|T	0.01013|0.01013	-1.1481|-1.1481	4|9	.|0.72032	.|D	.|0.01	.|.	8.6958|8.6958	0.34296|0.34296	0.2933:0.0:0.7067:0.0|0.2933:0.0:0.7067:0.0	rs35132891|rs35132891	.|159;189;189;176;206;159;159	.|E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.|.;.;.;.;.;.;NPNT_HUMAN	P|H	136|55;159;176;189;159;159;189;206	.|ENSP00000426951:Q55H;ENSP00000369323:Q159H;ENSP00000402884:Q176H;ENSP00000389252:Q189H;ENSP00000422044:Q159H;ENSP00000302557:Q159H;ENSP00000422474:Q189H;ENSP00000426146:Q206H	.|ENSP00000302557:Q159H	A|Q	+|+	1|3	0|2	NPNT|NPNT	107078998|107078998	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.935000|0.935000	0.57460|0.57460	3.803000|3.803000	0.55560|0.55560	0.698000|0.698000	0.31739|0.31739	-0.122000|-0.122000	0.15005|0.15005	GCT|CAG	G|0.658;C|0.342	0.342	strong		0.517	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		C	106859549	G	C	106859549	3	2	22	1	0	0	0	0	1	0	0	0	10590	962	34	4	644	4	NPNT	4	106859549	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40460	106859549	84294727	2738	7846										
PAPSS1	9061	hgsc.bcm.edu	37	chr4	108552787	108552787	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagaatgtaagacttacTgttcagagtcatagtagtcc	9	7	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:108552787T>C	ENST00000265174.4	-	11	2008	c.1736A>G	c.(1735-1737)cAc>cGc	p.H579R		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	579					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TAAGACTTACTGTTCAGAGTC	0.403																																					p.H579R		Atlas-SNP	.											.	PAPSS1	57	.	0			c.A1736G						PASS	.						113	111	112					4																	108552787		2203	4300	6503	SO:0001630	splice_region_variant	9061	exon11			ACTTACTGTTCAG	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1736+1A>G	4.37:g.108552787T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	112	45	0.401786	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	4.243	0.044005	0.08196	.	.	ENSG00000138801	ENST00000265174	T	0.26957	1.7	5.62	5.62	0.85841	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.188956	0.56097	D	0.000029	T	0.06096	0.0158	N	0.00125	-2.05	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37267	-0.9713	9	.	.	.	-22.1456	15.8538	0.78960	0.0:0.0:0.0:1.0	.	579	O43252	PAPS1_HUMAN	R	579	ENSP00000265174:H579R	.	H	-	2	0	PAPSS1	108772236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.979000	0.40608	2.141000	0.66446	0.528000	0.53228	CAC	.	.	none		0.403	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2		Missense_Mutation	C	108552787	T	C	108552787	5	2	22	1	0	0	0	0	0	0	1	0	11434	1594	55	3	146	3	PAPSS1	4	108552787	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1693238	108552787	82601489	2739	7847										
PAPSS1	9061	hgsc.bcm.edu	37	chr4	108574677	108574677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctttaaatttctgctttaGctcagtaggagtaagacgat	8	6	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:108574677G>T	ENST00000265174.4	-	9	1479	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	403					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCTGCTTTAGCTCAGTAGGA	0.393																																					p.L403I		Atlas-SNP	.											PAPSS1,NS,carcinoma,+1,1	PAPSS1	57	1	0			c.C1207A						scavenged	.						140	131	134					4																	108574677		2203	4300	6503	SO:0001583	missense	9061	exon9			GCTTTAGCTCAGT	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1207C>A	4.37:g.108574677G>T	ENSP00000265174:p.Leu403Ile	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	207	4	0.0193237	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581299	0.86748	.	.	ENSG00000138801	ENST00000265174	T	0.31510	1.49	5.47	5.47	0.80525	Sulphate adenylyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.55481	1.735	0.80722	D	1	P	0.48834	0.916	D	0.71656	0.974	T	0.43376	-0.9395	10	0.42905	T	0.14	-15.3606	19.3341	0.94307	0.0:0.0:1.0:0.0	.	403	O43252	PAPS1_HUMAN	I	403	ENSP00000265174:L403I	ENSP00000265174:L403I	L	-	1	2	PAPSS1	108794126	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.436000	0.80404	2.558000	0.86282	0.557000	0.71058	CTA	.	.	none		0.393	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			T	108574677	G	T	108574677	3	4	22	1	0	0	0	0	1	0	0	0	11434	962	34	4	683	4	PAPSS1	4	108574677	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21890	108574677	82579599	2740	7848										
SGMS2	166929	hgsc.bcm.edu	37	chr4	108816880	108816880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggcaccaaaaagtacccGgactatatccaaattgctat	6	10	0	0	rs150784082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:108816880G>A	ENST00000394684.4	+	3	728	c.171G>A	c.(169-171)ccG>ccA	p.P57P	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Silent_p.P57P|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Silent_p.P57P	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	57					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		AAAAGTACCCGGACTATATCC	0.443													G|||	22	0.00439297	0.0159	0.0014	5008	,	,		20353	0.0		0.0	False		,,,				2504	0.0				p.P57P		Atlas-SNP	.											.	SGMS2	39	.	0			c.G171A						PASS	.	G	,,	56,4350	55.5+/-91.7	0,56,2147	98	94	95		171,171,171	-5.7	0.7	4	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SGMS2	NM_001136257.1,NM_001136258.1,NM_152621.5	,,	0,57,6446	AA,AG,GG		0.0116,1.271,0.4383	,,	57/366,57/366,57/366	108816880	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	166929	exon2			GTACCCGGACTAT	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.171G>A	4.37:g.108816880G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_001136257	A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	CCDS3677.1																																																																																			G|0.996;A|0.004	0.004	strong		0.443	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		A	108816880	G	A	108816880	2	1	22	1	0	0	0	0	0	0	0	1	14215	1103	39	1		1	SGMS2	4	108816880	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	242203	108816880	82337396	2741	7849										
AGXT2L1	64850	hgsc.bcm.edu	37	chr4	109674116	109674116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgcataagcactggctgAgtctgcatggtcttctctat	9	10	4	1	rs1377210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:109674116A>G	ENST00000296486.3	-	6	707	c.553T>C	c.(553-555)Tca>Cca	p.S185P	ETNPPL_ENST00000512646.1_Missense_Mutation_p.S127P|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S179P|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S145P	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	185			S -> P (in dbSNP:rs1377210).			mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GCACTGGCTGAGTCTGCATGG	0.378													G|||	1329	0.265375	0.2988	0.1499	5008	,	,		19676	0.498		0.0805	False		,,,				2504	0.2526				p.S185P		Atlas-SNP	.											.	AGXT2L1	67	.	0			c.T553C	GRCh37	CM064956	AGXT2L1	M	rs1377210	PASS	.	G	PRO/SER,PRO/SER,PRO/SER	1204,3202	709.0+/-407.7	164,876,1163	172	162	165		535,379,553	4.6	0.8	4	dbSNP_88	165	757,7843	784.9+/-407.6	36,685,3579	yes	missense,missense,missense	AGXT2L1	NM_001146590.1,NM_001146627.1,NM_031279.3	74,74,74	200,1561,4742	GG,GA,AA		8.8023,27.3264,15.0777	benign,benign,benign	179/494,127/442,185/500	109674116	1961,11045	2203	4300	6503	SO:0001583	missense	64850	exon6			TGGCTGAGTCTGC	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.553T>C	4.37:g.109674116A>G	ENSP00000296486:p.Ser185Pro	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	97	47	0.484536	NM_031279	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	562	0.2573260073260073	158	0.32113821138211385	44	0.12154696132596685	298	0.5209790209790209	62	0.08179419525065963	G	0.840	-0.742376	0.03088	0.273264	0.088023	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.46	4.61	0.57282	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048916	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00637	-1.305	0.44309	P	0.0028129999999999544	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37865	-0.9687	8	.	.	.	-5.6589	10.6615	0.45704	0.0686:0.0:0.7992:0.1322	rs1377210;rs3733621;rs52805159;rs60825583;rs1377210	127;179;185	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	P	185;179;127;145	ENSP00000296486:S185P;ENSP00000392269:S179P;ENSP00000427065:S127P;ENSP00000423240:S145P	.	S	-	1	0	AGXT2L1	109893565	1.000000	0.71417	0.761000	0.31378	0.203000	0.24098	4.751000	0.62169	0.665000	0.31066	-0.119000	0.15052	TCA	A|0.791;G|0.209	0.209	strong		0.378	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		G	109674116	A	G	109674116	3	3	22	1	0	0	0	0	1	0	0	0	406	304	11	3	978	3	AGXT2L1	4	109674116	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	857236	109674116	81480160	2742	7850										
CCDC109B	55013	hgsc.bcm.edu	37	chr4	110581363	110581363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaacagaaataacagttaTttatagacatggccttccct	5	9	0	2	rs4698744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:110581363T>A	ENST00000394650.4	+	3	321	c.188T>A	c.(187-189)aTt>aAt	p.I63N	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	63			I -> N (in dbSNP:rs4698744).		mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ATAACAGTTATTTATAGACAT	0.308													A|||	1477	0.294928	0.1346	0.3804	5008	,	,		15650	0.4802		0.3201	False		,,,				2504	0.2342				p.I63N		Atlas-SNP	.											.	CCDC109B	47	.	0			c.T188A						PASS	.	A	ASN/ILE	199,1185		15,169,508	74	57	62		188	-7.5	0	4	dbSNP_111	62	983,2199		156,671,764	yes	missense	CCDC109B	NM_017918.4	149	171,840,1272	AA,AT,TT		30.8925,14.3786,25.887	benign	63/337	110581363	1182,3384	692	1591	2283	SO:0001583	missense	55013	exon3			CAGTTATTTATAG	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.188T>A	4.37:g.110581363T>A	ENSP00000378145:p.Ile63Asn	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	124	67	0.540323	NM_017918	A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	CCDS3683.2	727	0.33287545787545786	80	0.16260162601626016	138	0.3812154696132597	270	0.47202797202797203	239	0.3153034300791557	A	6.289	0.421491	0.11928	0.143786	0.308925	ENSG00000005059	ENST00000394650;ENST00000452915	T;T	0.45276	0.9;0.9	5.28	-7.51	0.01346	.	0.868148	0.09770	N	0.758169	T	0.00012	0.0000	N	0.02247	-0.625	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37267	-0.9713	9	0.13470	T	0.59	-0.215	5.0765	0.14634	0.3719:0.1008:0.4294:0.0979	rs4698744;rs17619522;rs58266701;rs4698744	63;42	Q9NWR8;C9JTJ6	C109B_HUMAN;.	N	63;42	ENSP00000378145:I63N;ENSP00000414591:I42N	ENSP00000378145:I63N	I	+	2	0	CCDC109B	110800812	0.126000	0.22350	0.000000	0.03702	0.820000	0.46376	0.094000	0.15107	-2.463000	0.00535	-1.099000	0.02127	ATT	T|0.669;A|0.331	0.331	strong		0.308	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		A	110581363	T	A	110581363	3	1	22	1	0	0	0	0	1	0	0	0	2745	1493	52	5	198	5	CCDC109B	4	110581363	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	907247	110581363	80572913	2743	7851										
CFI	3426	hgsc.bcm.edu	37	chr4	110681527	110681527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgcaatggaagcctttgCcttggcatgctgtgcaaaca	10	9	0	0	rs112534524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:110681527C>T	ENST00000394634.2	-	6	989	c.782G>A	c.(781-783)gGc>gAc	p.G261D	CFI_ENST00000394635.3_Missense_Mutation_p.G261D|CFI_ENST00000512148.1_Missense_Mutation_p.G261D	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	261	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAAGCCTTTGCCTTGGCATGC	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		19374	0.0		0.002	False		,,,				2504	0.0				p.G261D		Atlas-SNP	.											.	CFI	59	.	0			c.G782A	GRCh37	CM071595	CFI	M	rs112534524	PASS	.	C	ASP/GLY	5,4401	9.9+/-24.2	0,5,2198	127	113	117		782	2.2	0	4	dbSNP_132	117	17,8583	12.6+/-44.7	0,17,4283	yes	missense	CFI	NM_000204.3	94	0,22,6481	TT,TC,CC		0.1977,0.1135,0.1692	possibly-damaging	261/584	110681527	22,12984	2203	4300	6503	SO:0001583	missense	3426	exon6			CCTTTGCCTTGGC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.782G>A	4.37:g.110681527C>T	ENSP00000378130:p.Gly261Asp	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	134	49	0.365672	NM_000204	O60442	Missense_Mutation	SNP	ENST00000394634.2	37	CCDS34049.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	10.82	1.457707	0.26161	0.001135	0.001977	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228	D;D;D	0.95272	-3.66;-3.66;-3.66	5.92	2.15	0.27550	.	0.579484	0.20634	N	0.088529	D	0.86251	0.5888	N	0.12471	0.22	0.09310	N	1	B;B;B	0.22800	0.074;0.036;0.075	B;B;B	0.28465	0.09;0.029;0.081	T	0.76713	-0.2858	10	0.44086	T	0.13	-6.4257	5.5586	0.17131	0.0:0.5559:0.1361:0.3081	.	261;261;261	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	D	261;261;261;261;243	ENSP00000378131:G261D;ENSP00000378130:G261D;ENSP00000427438:G261D	ENSP00000378130:G261D	G	-	2	0	CFI	110900976	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.052000	0.11865	0.424000	0.26061	0.655000	0.94253	GGC	C|0.998;G|0.000;T|0.002	0.002	strong		0.413	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		T	110681527	C	T	110681527	3	4	22	1	0	0	0	0	1	0	0	0	3289	739	26	2	1001	2	CFI	4	110681527	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100164	110681527	80472749	2744	7852										
LRIT3	345193	hgsc.bcm.edu	37	chr4	110791453	110791453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacataactctgcagtgacTgtgttgtattccaagtatgg	9	8	1	1	rs9994891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:110791453T>C	ENST00000594814.1	+	4	1548	c.1548T>C	c.(1546-1548)acT>acC	p.T516T	LRIT3_ENST00000379920.3_Silent_p.T471T|LRIT3_ENST00000327908.3_Silent_p.T333T|LRIT3_ENST00000409621.2_Silent_p.T333T	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	516	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CTGCAGTGACTGTGTTGTATT	0.473													T|||	588	0.117412	0.4228	0.0346	5008	,	,		22015	0.001		0.004	False		,,,				2504	0.0				p.T516T		Atlas-SNP	.											.	LRIT3	107	.	0			c.T1548C						PASS	.	T		1599,2807	496.0+/-363.4	295,1009,899	152	139	144		1413	-6	0	4	dbSNP_119	144	61,8539	36.4+/-91.3	1,59,4240	no	coding-synonymous	LRIT3	NM_198506.2		296,1068,5139	CC,CT,TT		0.7093,36.2914,12.7633		471/635	110791453	1660,11346	2203	4300	6503	SO:0001819	synonymous_variant	345193	exon4			AGTGACTGTGTTG	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1548T>C	4.37:g.110791453T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	151	148	0.980132	NM_198506	C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	CCDS3688.3																																																																																			T|0.866;C|0.134	0.134	strong		0.473	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		C	110791453	T	C	110791453	2	2	22	1	0	0	0	0	0	0	0	1	8949	1567	55	3		3	LRIT3	4	110791453	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	109926	110791453	80362823	2745	7853										
TIFA	92610	hgsc.bcm.edu	37	chr4	113199075	113199075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgggaggagcagagcgaAtaagtgccatactccggtat	13	8	0	1	rs701759|rs386678484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:113199075A>G	ENST00000361717.3	-	2	779	c.498T>C	c.(496-498)taT>taC	p.Y166Y	TIFA_ENST00000500655.2_Silent_p.Y166Y	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	166					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AGCAGAGCGAATAAGTGCCAT	0.423													A|||	3256	0.65016	0.8926	0.634	5008	,	,		18519	0.751		0.508	False		,,,				2504	0.3763				p.Y166Y		Atlas-SNP	.											.	TIFA	15	.	0			c.T498C						PASS	.	A		3697,709	757.8+/-412.8	1554,589,60	90	91	91		498	-11.2	0	4	dbSNP_86	91	4495,4105	590.0+/-392.6	1201,2093,1006	no	coding-synonymous	TIFA	NM_052864.2		2755,2682,1066	GG,GA,AA		47.7326,16.0917,37.0137		166/185	113199075	8192,4814	2203	4300	6503	SO:0001819	synonymous_variant	92610	exon2			GAGCGAATAAGTG	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.498T>C	4.37:g.113199075A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_052864		Silent	SNP	ENST00000361717.3	37	CCDS34051.1																																																																																			A|0.344;G|0.656	0.656	strong		0.423	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		G	113199075	A	G	113199075	2	3	22	1	0	0	0	0	0	0	0	1	15891	108	4	2		2	TIFA	4	113199075	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2407622	113199075	77955201	2746	7854										
ALPK1	80216	hgsc.bcm.edu	37	chr4	113352397	113352397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatcggactacagcaatgGtgagggagctgttttcaaca	12	9	1	1	rs2074388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:113352397G>A	ENST00000458497.1	+	11	1973	c.1694G>A	c.(1693-1695)gGt>gAt	p.G565D	ALPK1_ENST00000177648.9_Missense_Mutation_p.G565D|ALPK1_ENST00000504176.2_Missense_Mutation_p.G487D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	565			G -> D (in dbSNP:rs2074388). {ECO:0000269|PubMed:10021370, ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.5}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TACAGCAATGGTGAGGGAGCT	0.507													G|||	3142	0.627396	0.7239	0.5576	5008	,	,		21715	0.6369		0.6173	False		,,,				2504	0.547				p.G565D		Atlas-SNP	.											.	ALPK1	125	.	0			c.G1694A						PASS	.	G	ASP/GLY,ASP/GLY	3084,1322	696.4+/-406.1	1076,932,195	99	99	99		1694,1694	1.8	0	4	dbSNP_96	99	5420,3180	654.2+/-401.1	1706,2008,586	yes	missense,missense	ALPK1	NM_001102406.1,NM_025144.3	94,94	2782,2940,781	AA,AG,GG		36.9767,30.0045,34.6148	benign,benign	565/1245,565/1245	113352397	8504,4502	2203	4300	6503	SO:0001583	missense	80216	exon11			GCAATGGTGAGGG	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1694G>A	4.37:g.113352397G>A	ENSP00000398048:p.Gly565Asp	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	1393	0.6378205128205128	343	0.6971544715447154	200	0.5524861878453039	375	0.6555944055944056	475	0.6266490765171504	G	13.58	2.279331	0.40294	0.699955	0.630233	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02395	4.38;4.38;4.31	4.61	1.76	0.24704	.	0.718387	0.12973	N	0.423936	T	0.00012	0.0000	M	0.64997	1.995	0.80722	P	0.0	D;D	0.67145	0.996;0.987	P;P	0.56563	0.801;0.638	T	0.04165	-1.0972	9	0.29301	T	0.29	-4.1767	7.7266	0.28763	0.0:0.2951:0.4022:0.3027	rs2074388;rs17628348;rs56802581;rs2074388	487;565	F5H138;Q96QP1	.;ALPK1_HUMAN	D	565;565;487	ENSP00000398048:G565D;ENSP00000177648:G565D;ENSP00000426044:G487D	ENSP00000177648:G565D	G	+	2	0	ALPK1	113571846	0.004000	0.15560	0.001000	0.08648	0.017000	0.09413	0.724000	0.25954	0.195000	0.20347	0.655000	0.94253	GGT	G|0.353;A|0.647	0.647	strong		0.507	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113352397	G	A	113352397	3	1	22	1	0	0	0	0	1	0	0	0	544	1261	44	2	1728	2	ALPK1	4	113352397	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153322	113352397	77801879	2747	7855										
ALPK1	80216	hgsc.bcm.edu	37	chr4	113352628	113352628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagctatgcattcattgcAttcacagcttcatgatctct	6	11	4	2	rs13148353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:113352628A>G	ENST00000458497.1	+	11	2204	c.1925A>G	c.(1924-1926)cAt>cGt	p.H642R	ALPK1_ENST00000177648.9_Missense_Mutation_p.H642R|ALPK1_ENST00000504176.2_Missense_Mutation_p.H564R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	642			H -> R (in dbSNP:rs13148353). {ECO:0000269|PubMed:10021370, ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.5}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATTCATTGCATTCACAGCTT	0.483													G|||	3298	0.658546	0.7481	0.5807	5008	,	,		21516	0.7014		0.6511	False		,,,				2504	0.5562				p.H642R		Atlas-SNP	.											.	ALPK1	125	.	0			c.A1925G						PASS	.	G	ARG/HIS,ARG/HIS	3196,1210	420.8+/-339.2	1158,880,165	94	88	90		1925,1925	2.5	0	4	dbSNP_121	90	5651,2949	458.8+/-364.7	1854,1943,503	yes	missense,missense	ALPK1	NM_001102406.1,NM_025144.3	29,29	3012,2823,668	GG,GA,AA		34.2907,27.4626,31.9775	benign,benign	642/1245,642/1245	113352628	8847,4159	2203	4300	6503	SO:0001583	missense	80216	exon11			CATTGCATTCACA	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1925A>G	4.37:g.113352628A>G	ENSP00000398048:p.His642Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	129	128	0.992248	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	1474	0.674908424908425	354	0.7195121951219512	209	0.5773480662983426	415	0.7255244755244755	496	0.6543535620052771	G	8.574	0.880768	0.17467	0.725374	0.657093	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02323	4.41;4.41;4.34	5.2	2.53	0.30540	.	0.366946	0.31507	N	0.007528	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04650	-1.0936	9	0.20046	T	0.44	1.0739	3.9921	0.09541	0.2619:0.5053:0.1536:0.0792	rs13148353;rs52817326;rs58328079;rs13148353	564;642	F5H138;Q96QP1	.;ALPK1_HUMAN	R	642;642;564	ENSP00000398048:H642R;ENSP00000177648:H642R;ENSP00000426044:H564R	ENSP00000177648:H642R	H	+	2	0	ALPK1	113572077	0.002000	0.14202	0.006000	0.13384	0.003000	0.03518	0.246000	0.18160	-0.030000	0.13804	-0.726000	0.03593	CAT	A|0.320;G|0.679	0.679	strong		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		G	113352628	A	G	113352628	3	3	22	1	0	0	0	0	1	0	0	0	544	217	8	2	1959	2	ALPK1	4	113352628	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	231	113352628	77801648	2748	7856										
ALPK1	80216	hgsc.bcm.edu	37	chr4	113352899	113352899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggtaggcccaagaatatGggcacacatccttcagtcca	9	12	2	1	rs2074379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:113352899G>A	ENST00000458497.1	+	11	2475	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	ALPK1_ENST00000177648.9_Missense_Mutation_p.M732I|ALPK1_ENST00000504176.2_Missense_Mutation_p.M654I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	732			M -> I (in dbSNP:rs2074379). {ECO:0000269|PubMed:10021370, ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.5}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAAGAATATGGGCACACATC	0.453													G|||	3139	0.626797	0.7224	0.5576	5008	,	,		19724	0.6359		0.6173	False		,,,				2504	0.547				p.M732I		Atlas-SNP	.											.	ALPK1	125	.	0			c.G2196A						PASS	.	G	ILE/MET,ILE/MET	3083,1323	694.3+/-405.8	1074,935,194	63	67	66		2196,2196	3.3	0	4	dbSNP_96	66	5420,3180	650.9+/-400.8	1705,2010,585	yes	missense,missense	ALPK1	NM_001102406.1,NM_025144.3	10,10	2779,2945,779	AA,AG,GG		36.9767,30.0272,34.6225	benign,benign	732/1245,732/1245	113352899	8503,4503	2203	4300	6503	SO:0001583	missense	80216	exon11			GAATATGGGCACA	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2196G>A	4.37:g.113352899G>A	ENSP00000398048:p.Met732Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	1394	0.6382783882783882	343	0.6971544715447154	200	0.5524861878453039	376	0.6573426573426573	475	0.6266490765171504	G	6.077	0.382466	0.11524	0.699728	0.630233	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02177	4.48;4.48;4.41	5.22	3.31	0.37934	.	0.909044	0.09685	N	0.769236	T	0.00012	0.0000	N	0.13043	0.29	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11916	-1.0568	9	0.06099	T	0.92	-2.2316	10.9258	0.47189	0.0846:0.1407:0.7747:0.0	rs2074379;rs52812592;rs60193682;rs2074379	654;732	F5H138;Q96QP1	.;ALPK1_HUMAN	I	732;732;654	ENSP00000398048:M732I;ENSP00000177648:M732I;ENSP00000426044:M654I	ENSP00000177648:M732I	M	+	3	0	ALPK1	113572348	0.005000	0.15991	0.002000	0.10522	0.023000	0.10783	0.648000	0.24828	1.141000	0.42275	0.655000	0.94253	ATG	G|0.353;A|0.647	0.647	strong		0.453	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113352899	G	A	113352899	3	1	22	1	0	0	0	0	1	0	0	0	544	1348	47	2	2230	2	ALPK1	4	113352899	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	271	113352899	77801377	2749	7857										
ALPK1	80216	hgsc.bcm.edu	37	chr4	113353285	113353285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcaactgctcgacagcaTggatgttccctgcacaaatg	12	11	0	0	rs11726117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:113353285T>C	ENST00000458497.1	+	11	2861	c.2582T>C	c.(2581-2583)aTg>aCg	p.M861T	ALPK1_ENST00000177648.9_Missense_Mutation_p.M861T|ALPK1_ENST00000504176.2_Missense_Mutation_p.M783T	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	861			M -> T (in dbSNP:rs11726117). {ECO:0000269|PubMed:10021370, ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.5}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCGACAGCATGGATGTTCCC	0.577													C|||	3298	0.658546	0.7481	0.5807	5008	,	,		20612	0.7014		0.6501	False		,,,				2504	0.5573				p.M861T		Atlas-SNP	.											ALPK1,NS,carcinoma,-1,1	ALPK1	125	1	0			c.T2582C						PASS	.	C	THR/MET,THR/MET	3195,1211	421.1+/-339.2	1157,881,165	55	52	53		2582,2582	1.7	0	4	dbSNP_120	53	5658,2942	457.6+/-364.4	1858,1942,500	yes	missense,missense	ALPK1	NM_001102406.1,NM_025144.3	81,81	3015,2823,665	CC,CT,TT		34.2093,27.4852,31.9314	benign,benign	861/1245,861/1245	113353285	8853,4153	2203	4300	6503	SO:0001583	missense	80216	exon11			ACAGCATGGATGT	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2582T>C	4.37:g.113353285T>C	ENSP00000398048:p.Met861Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	1473	0.6744505494505495	354	0.7195121951219512	209	0.5773480662983426	415	0.7255244755244755	495	0.6530343007915568	C	0.010	-1.766884	0.00651	0.725148	0.657907	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02258	4.45;4.45;4.37	4.66	1.74	0.24563	.	0.519792	0.18510	N	0.139088	T	0.00012	0.0000	N	0.00246	-1.78	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14392	-1.0474	9	0.02654	T	1	0.2401	4.8695	0.13625	0.2163:0.5002:0.0:0.2834	rs11726117;rs52800541;rs58704414;rs11726117	783;861	F5H138;Q96QP1	.;ALPK1_HUMAN	T	861;861;783	ENSP00000398048:M861T;ENSP00000177648:M861T;ENSP00000426044:M783T	ENSP00000177648:M861T	M	+	2	0	ALPK1	113572734	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.408000	0.02485	0.136000	0.18733	-0.726000	0.03593	ATG	C|0.679;N|0.000	0.679	strong		0.577	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		C	113353285	T	C	113353285	3	2	22	1	0	0	0	0	1	0	0	0	544	1464	51	2	2616	2	ALPK1	4	113353285	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	386	113353285	77800991	2750	7858										
ANK2	287	hgsc.bcm.edu	37	chr4	114279770	114279770	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaagattttctatccagTgtagatgaggaaaataaggc	10	5	2	4	rs145557320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:114279770T>C	ENST00000357077.4	+	38	10049	c.9996T>C	c.(9994-9996)agT>agC	p.S3332S	ANK2_ENST00000264366.6_Silent_p.S3299S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3332					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTATCCAGTGTAGATGAGG	0.443													T|||	39	0.00778754	0.0272	0.0029	5008	,	,		18580	0.0		0.001	False		,,,				2504	0.0				p.S3332S		Atlas-SNP	.											.	ANK2	576	.	0			c.T9996C						PASS	.	T	,,	114,4292	85.8+/-124.5	0,114,2089	110	113	112		,9996,	-2.8	0.2	4	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,115,6388	CC,CT,TT		0.0116,2.5874,0.8842	,,	,3332/3958,	114279770	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	287	exon38			ATCCAGTGTAGAT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9996T>C	4.37:g.114279770T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	93	45	0.483871	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																			T|0.992;C|0.008	0.008	strong		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114279770	T	C	114279770	2	2	22	1	0	0	0	0	0	0	0	1	621	1693	59	2		2	ANK2	4	114279770	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	926485	114279770	76874506	2751	7859										
CAMK2D	817	hgsc.bcm.edu	37	chr4	114438740	114438740	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcataagctccagccttgatCtgctgatagagtctgtgttg	10	9	3	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:114438740C>T	ENST00000342666.5	-	9	674	c.675G>A	c.(673-675)caG>caA	p.Q225Q	CAMK2D_ENST00000454265.2_Silent_p.Q225Q|CAMK2D_ENST00000394526.2_Silent_p.Q225Q|CAMK2D_ENST00000418639.2_Silent_p.Q225Q|CAMK2D_ENST00000514328.1_Silent_p.Q225Q|CAMK2D_ENST00000394522.3_Silent_p.Q225Q|CAMK2D_ENST00000296402.5_Silent_p.Q225Q|CAMK2D_ENST00000515496.1_Silent_p.Q225Q|CAMK2D_ENST00000511664.1_Silent_p.Q225Q|CAMK2D_ENST00000379773.2_Silent_p.Q225Q|CAMK2D_ENST00000508738.1_Silent_p.Q225Q|CAMK2D_ENST00000429180.1_Silent_p.Q225Q|CAMK2D_ENST00000505990.1_Silent_p.Q225Q|CAMK2D_ENST00000394524.3_Silent_p.Q225Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CAGCCTTGATCTGCTGATAGA	0.383																																					p.Q225Q		Atlas-SNP	.											.	CAMK2D	55	.	0			c.G675A						PASS	.						129	131	130					4																	114438740		2203	4300	6503	SO:0001819	synonymous_variant	817	exon9			CTTGATCTGCTGA	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.675G>A	4.37:g.114438740C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_172128	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	CCDS3703.1																																																																																			.	.	none		0.383	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			T	114438740	C	T	114438740	2	4	22	1	0	0	0	0	0	0	0	1	2601	912	32	2		2	CAMK2D	4	114438740	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	158970	114438740	76715536	2752	7860										
TRAM1L1	133022	hgsc.bcm.edu	37	chr4	118005458	118005458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattatgaagatttctctttCctctttggcggacagtctac	8	9	3	2	rs35809332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:118005458C>T	ENST00000310754.4	-	1	1278	c.1092G>A	c.(1090-1092)agG>agA	p.R364R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	364					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ATTTCTCTTTCCTCTTTGGCG	0.378													C|||	56	0.0111821	0.0401	0.0043	5008	,	,		18119	0.0		0.0	False		,,,				2504	0.0				p.R364R		Atlas-SNP	.											.	TRAM1L1	55	.	0			c.G1092A						PASS	.	C		161,4245	94.8+/-133.5	4,153,2046	135	140	138		1092	2.9	1	4	dbSNP_126	138	0,8600		0,0,4300	no	coding-synonymous	TRAM1L1	NM_152402.2		4,153,6346	TT,TC,CC		0.0,3.6541,1.2379		364/370	118005458	161,12845	2203	4300	6503	SO:0001819	synonymous_variant	133022	exon1			CTCTTTCCTCTTT	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1092G>A	4.37:g.118005458C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	199	94	0.472362	NM_152402	Q8N2L7	Silent	SNP	ENST00000310754.4	37	CCDS3707.1																																																																																			C|0.987;T|0.013	0.013	strong		0.378	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		T	118005458	C	T	118005458	2	4	22	1	0	0	0	0	0	0	0	1	16449	854	30	2		2	TRAM1L1	4	118005458	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3566718	118005458	73148818	2753	7861										
PRSS12	8492	hgsc.bcm.edu	37	chr4	119237348	119237348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccttacttaaatcccaaTtgtcgacaaaccacgtatgt	5	11	0	0	rs2292597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:119237348T>C	ENST00000296498.3	-	6	1563	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	427	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q427Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TAAATCCCAATTGTCGACAAA	0.378													C|||	2731	0.545327	0.4516	0.5692	5008	,	,		17615	0.5843		0.5626	False		,,,				2504	0.5971				p.Q427Q		Atlas-SNP	.											PRSS12,NS,carcinoma,0,1	PRSS12	71	1	1	Substitution - coding silent(1)	stomach(1)	c.A1281G						PASS	.	C		2088,2318	604.1+/-390.3	516,1056,631	102	95	97		1281	3.5	0.9	4	dbSNP_100	97	4726,3874	544.2+/-384.5	1306,2114,880	no	coding-synonymous	PRSS12	NM_003619.3		1822,3170,1511	CC,CT,TT		45.0465,47.3899,47.6088		427/876	119237348	6814,6192	2203	4300	6503	SO:0001819	synonymous_variant	8492	exon6			TCCCAATTGTCGA	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1281A>G	4.37:g.119237348T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_003619	Q9UP16	Silent	SNP	ENST00000296498.3	37	CCDS3709.1																																																																																			T|0.467;C|0.533	0.533	strong		0.378	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			C	119237348	T	C	119237348	2	2	22	1	0	0	0	0	0	0	0	1	12615	1490	52	2		2	PRSS12	4	119237348	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1231890	119237348	71916928	2754	7862										
SEC24D	9871	hgsc.bcm.edu	37	chr4	119659518	119659518	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaccttcaaaggctggtgGagaactgctttaaaagctac	10	8	1	2	rs1128403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:119659518G>A	ENST00000280551.6	-	19	2632	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	SEC24D_ENST00000429811.2_Silent_p.L354L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Silent_p.L354L|SEC24D_ENST00000511481.1_Silent_p.L429L|SEC24D_ENST00000379735.5_Silent_p.L799L			O94855	SC24D_HUMAN	SEC24 family member D	798					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAGGCTGGTGGAGAACTGCTT	0.403													G|||	197	0.0393371	0.1309	0.0202	5008	,	,		19037	0.0		0.008	False		,,,				2504	0.002				p.L798L		Atlas-SNP	.											.	SEC24D	96	.	0			c.C2394T						PASS	.	G		499,3907	234.6+/-247.4	25,449,1729	100	89	93		2394	-10.1	0.1	4	dbSNP_86	93	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous	SEC24D	NM_014822.2		25,477,6001	AA,AG,GG		0.3256,11.3255,4.052		798/1033	119659518	527,12479	2203	4300	6503	SO:0001819	synonymous_variant	9871	exon19			CTGGTGGAGAACT	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2394C>T	4.37:g.119659518G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	178	75	0.421348	NM_014822	Q8IYI7	Silent	SNP	ENST00000280551.6	37	CCDS3710.1																																																																																			G|0.956;A|0.044	0.044	strong		0.403	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			A	119659518	G	A	119659518	2	1	22	1	0	0	0	0	0	0	0	1	13997	1161	41	2		2	SEC24D	4	119659518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	422170	119659518	71494758	2755	7863										
SYNPO2	171024	hgsc.bcm.edu	37	chr4	119948046	119948046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccaaatgcctgactcccaAagaggacgcgtggcagaaga	11	13	0	4	rs17263971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:119948046A>C	ENST00000429713.2	+	3	704	c.522A>C	c.(520-522)caA>caC	p.Q174H	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.Q174H|SYNPO2_ENST00000434046.2_Missense_Mutation_p.Q174H	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	174			Q -> H (in dbSNP:rs17263971).			actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGACTCCCAAAGAGGACGCG	0.557													A|||	1110	0.221645	0.2133	0.219	5008	,	,		18571	0.1577		0.2644	False		,,,				2504	0.2566				p.Q174H		Atlas-SNP	.											.	SYNPO2	353	.	0			c.A522C						PASS	.	A	HIS/GLN,HIS/GLN,HIS/GLN	1006,3400	342.8+/-307.3	115,776,1312	36	41	40		522,522,522	-1.5	0	4	dbSNP_123	40	2140,6460	354.8+/-329.6	264,1612,2424	yes	missense,missense,missense	SYNPO2	NM_001128933.1,NM_001128934.1,NM_133477.2	24,24,24	379,2388,3736	CC,CA,AA		24.8837,22.8325,24.1888	benign,benign,benign	174/1094,174/1110,174/1262	119948046	3146,9860	2203	4300	6503	SO:0001583	missense	171024	exon3			CTCCCAAAGAGGA	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.522A>C	4.37:g.119948046A>C	ENSP00000395143:p.Gln174His	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	120	57	0.475	NM_001128934	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	463|463	0.211996336996337|0.211996336996337	87|87	0.17682926829268292|0.17682926829268292	88|88	0.2430939226519337|0.2430939226519337	90|90	0.15734265734265734|0.15734265734265734	198|198	0.2612137203166227|0.2612137203166227	A|A	6.546|6.546	0.469035|0.469035	0.12461|0.12461	0.228325|0.228325	0.248837|0.248837	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.09073	.|3.02;3.03;3.02	5.24|5.24	-1.52|-1.52	0.08637|0.08637	.|.	.|1.114660	.|0.06829	.|N	.|0.793679	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	P|P	0.0|0.0	.|P;B;B	.|0.41569	.|0.755;0.0;0.0	.|B;B;B	.|0.37346	.|0.247;0.001;0.001	T|T	0.44143|0.44143	-0.9347|-0.9347	4|9	.|0.30854	.|T	.|0.27	0.4447|0.4447	5.7472|5.7472	0.18126|0.18126	0.4363:0.2693:0.2945:0.0|0.4363:0.2693:0.2945:0.0	rs17263971;rs17263971|rs17263971;rs17263971	.|174;174;174	.|Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;SYNP2_HUMAN	Q|H	126|174	.|ENSP00000306015:Q174H;ENSP00000395143:Q174H;ENSP00000390965:Q174H	.|ENSP00000306015:Q174H	K|Q	+|+	1|3	0|2	SYNPO2|SYNPO2	120167494|120167494	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.201000|0.201000	0.24016|0.24016	-0.045000|-0.045000	0.12003|0.12003	-0.240000|-0.240000	0.09696|0.09696	0.455000|0.455000	0.32223|0.32223	AAG|CAA	A|0.774;C|0.226	0.226	strong		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			C	119948046	A	C	119948046	3	2	22	1	0	0	0	0	1	0	0	0	15454	11	1	5	532	5	SYNPO2	4	119948046	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	288528	119948046	71206230	2756	7864										
SYNPO2	171024	hgsc.bcm.edu	37	chr4	119952589	119952589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcgagaatggagaagtatGtggtcgattcagacacggtg	15	5	1	3	rs115012720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:119952589G>A	ENST00000429713.2	+	4	2841	c.2659G>A	c.(2659-2661)Gtg>Atg	p.V887M	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.V887M|SYNPO2_ENST00000307142.4_Missense_Mutation_p.V887M	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	887						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGAAGTATGTGGTCGATTC	0.562													G|||	28	0.00559105	0.0212	0.0	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.0				p.V887M		Atlas-SNP	.											.	SYNPO2	353	.	0			c.G2659A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL	100,4306	80.4+/-118.8	1,98,2104	126	118	121		2659,2659,2659	5.8	1	4	dbSNP_132	121	3,8597	1.2+/-3.3	0,3,4297	yes	missense,missense,missense	SYNPO2	NM_001128933.1,NM_001128934.1,NM_133477.2	21,21,21	1,101,6401	AA,AG,GG		0.0349,2.2696,0.7919	probably-damaging,probably-damaging,probably-damaging	887/1094,887/1110,887/1262	119952589	103,12903	2203	4300	6503	SO:0001583	missense	171024	exon4			AAGTATGTGGTCG	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2659G>A	4.37:g.119952589G>A	ENSP00000395143:p.Val887Met	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_001128934	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	8|8	0.003663003663003663|0.003663003663003663	8|8	0.016260162601626018|0.016260162601626018	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.38|18.38	3.611213|3.611213	0.66558|0.66558	0.022696|0.022696	3.49E-4|3.49E-4	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.25085	.|1.82;1.87;1.88	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.56097	.|D	.|0.000026	T|T	0.39200|0.39200	0.1069|0.1069	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.994;0.986;0.99	T|T	0.43972|0.43972	-0.9358|-0.9358	5|9	.|.	.|.	.|.	-20.0199|-20.0199	19.9596|19.9596	0.97236|0.97236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|887;887;887;887	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	Y|M	838|887	.|ENSP00000306015:V887M;ENSP00000395143:V887M;ENSP00000390965:V887M	.|.	C|V	+|+	2|1	0|0	SYNPO2|SYNPO2	120172037|120172037	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	5.790000|5.790000	0.69038|0.69038	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	TGT|GTG	G|0.993;A|0.007	0.007	strong		0.562	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			A	119952589	G	A	119952589	3	1	22	1	0	0	0	0	1	0	0	0	15454	1377	48	2	2673	2	SYNPO2	4	119952589	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4543	119952589	71201687	2757	7865										
PDE5A	8654	hgsc.bcm.edu	37	chr4	120440278	120440278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaatgcaagtatctccAggtcagtcagcttgttctgc	9	11	5	0	rs116396619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:120440278A>G	ENST00000354960.3	-	14	2241	c.1922T>C	c.(1921-1923)cTg>cCg	p.L641P	PDE5A_ENST00000394439.1_Missense_Mutation_p.L589P|PDE5A_ENST00000512739.1_5'Flank|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.L599P	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	641	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAGTATCTCCAGGTCAGTCAG	0.408													A|||	26	0.00519169	0.0174	0.0029	5008	,	,		18416	0.0		0.001	False		,,,				2504	0.0				p.L641P		Atlas-SNP	.											.	PDE5A	83	.	0			c.T1922C						PASS	.	A	PRO/LEU,PRO/LEU,PRO/LEU	58,4348	56.8+/-93.2	0,58,2145	125	104	111		1922,1796,1766	5.5	1	4	dbSNP_132	111	0,8600		0,0,4300	yes	missense,missense,missense	PDE5A	NM_001083.3,NM_033430.2,NM_033437.3	98,98,98	0,58,6445	GG,GA,AA		0.0,1.3164,0.4459	probably-damaging,probably-damaging,probably-damaging	641/876,599/834,589/824	120440278	58,12948	2203	4300	6503	SO:0001583	missense	8654	exon14			ATCTCCAGGTCAG	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1922T>C	4.37:g.120440278A>G	ENSP00000347046:p.Leu641Pro	Somatic	241	1	0.00414938		WXS	Illumina HiSeq	Phase_I	261	129	0.494253	NM_001083	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	0	0.0	1	0.0013192612137203166	A	20.9	4.064397	0.76187	0.013164	0.0	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.85702	-2.02;-2.02;-2.02	5.46	5.46	0.80206	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.94964	3.605	0.80722	D	1	D;D	0.63046	0.992;0.989	D;D	0.72982	0.979;0.916	D	0.92792	0.6249	10	0.87932	D	0	.	9.4099	0.38485	0.9202:0.0:0.0798:0.0	.	641;599	O76074;O76074-2	PDE5A_HUMAN;.	P	641;589;599	ENSP00000347046:L641P;ENSP00000377957:L589P;ENSP00000264805:L599P	ENSP00000264805:L599P	L	-	2	0	PDE5A	120659726	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.113000	0.77095	2.081000	0.62600	0.533000	0.62120	CTG	A|0.996;G|0.004	0.004	strong		0.408	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		G	120440278	A	G	120440278	3	3	22	1	0	0	0	0	1	0	0	0	11644	188	7	3	737	3	PDE5A	4	120440278	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	487689	120440278	70713998	2758	7866										
C4orf31	79625	hgsc.bcm.edu	37	chr4	121958691	121958691	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagaagatccaactgataTaaaccggatggggaactaga	11	6	0	4	rs3733559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:121958691T>C	ENST00000379692.4	-	4	961	c.435A>G	c.(433-435)ttA>ttG	p.L145L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	145					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCAACTGATATAAACCGGATG	0.408													T|||	1127	0.22504	0.0998	0.3357	5008	,	,		19003	0.2351		0.2038	False		,,,				2504	0.3272				p.L145L		Atlas-SNP	.											NDNF,colon,carcinoma,-2,1	NDNF	72	1	0			c.A435G						scavenged	.	T		445,3451		28,389,1531	139	133	135		435	-8	0	4	dbSNP_107	135	1732,6590		179,1374,2608	no	coding-synonymous	NDNF	NM_024574.3		207,1763,4139	CC,CT,TT		20.8123,11.422,17.818		145/569	121958691	2177,10041	1948	4161	6109	SO:0001819	synonymous_variant	79625	exon4			CTGATATAAACCG	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.435A>G	4.37:g.121958691T>C		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	95	39	0.410526	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	CCDS3717.2																																																																																			T|0.796;C|0.204	0.204	strong		0.408	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		C	121958691	T	C	121958691	2	2	22	1	0	0	0	0	0	0	0	1	2261	1403	49	2		2	C4orf31	4	121958691	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1518413	121958691	69195585	2759	7867										
QRFPR	84109	hgsc.bcm.edu	37	chr4	122254014	122254014	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttccatgaatagttcgAagcactgaaccatccccaac	5	13	1	2	rs55975435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:122254014A>G	ENST00000394427.2	-	4	1170	c.759T>C	c.(757-759)ctT>ctC	p.L253L	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	253				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GAATAGTTCGAAGCACTGAAC	0.353													A|||	478	0.0954473	0.1021	0.0749	5008	,	,		14558	0.1151		0.1044	False		,,,				2504	0.0716				p.L253L		Atlas-SNP	.											.	QRFPR	65	.	0			c.T759C						PASS	.	A		361,4045	184.0+/-211.4	13,335,1855	90	86	87		759	-0.6	0.8	4	dbSNP_129	87	875,7725	196.3+/-241.3	49,777,3474	no	coding-synonymous	QRFPR	NM_198179.2		62,1112,5329	GG,GA,AA		10.1744,8.1934,9.5033		253/432	122254014	1236,11770	2203	4300	6503	SO:0001819	synonymous_variant	84109	exon4			AGTTCGAAGCACT	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.759T>C	4.37:g.122254014A>G		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	252	114	0.452381	NM_198179		Silent	SNP	ENST00000394427.2	37	CCDS3719.1																																																																																			A|0.909;G|0.091	0.091	strong		0.353	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		G	122254014	A	G	122254014	2	3	22	1	0	0	0	0	0	0	0	1	12878	233	9	2		2	QRFPR	4	122254014	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	295323	122254014	68900262	2760	7868										
EXOSC9	5393	hgsc.bcm.edu	37	chr4	122737965	122737965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacaagaaaaagcaccaaGtaaaaagccagtgaaaagaa	7	6	0	3	rs1051881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:122737965G>C	ENST00000243498.5	+	12	1382	c.1274G>C	c.(1273-1275)aGt>aCt	p.S425T	EXOSC9_ENST00000379663.3_Missense_Mutation_p.S442T|EXOSC9_ENST00000512454.1_Missense_Mutation_p.S409T|CCNA2_ENST00000274026.5_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	425			S -> T (in dbSNP:rs1051881).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AAAGCACCAAGTAAAAAGCCA	0.299													G|||	650	0.129792	0.4266	0.0648	5008	,	,		16115	0.0179		0.0139	False		,,,				2504	0.0092				p.S442T		Atlas-SNP	.											.	EXOSC9	51	.	0			c.G1325C						PASS	.	G	,THR/SER,THR/SER	1647,2753		294,1059,847	33	34	33		,1274,1325	4.1	1	4	dbSNP_86	33	197,8397		2,193,4102	yes	utr-3,missense,missense	CCNA2,EXOSC9	NM_001237.3,NM_005033.2,NM_001034194.1	,58,58	296,1252,4949	CC,CG,GG		2.2923,37.4318,14.1912	,benign,benign	,425/440,442/457	122737965	1844,11150	2200	4297	6497	SO:0001583	missense	5393	exon13			CACCAAGTAAAAA	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1274G>C	4.37:g.122737965G>C	ENSP00000243498:p.Ser425Thr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_001034194	Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	CCDS3722.2	227	0.10393772893772894	180	0.36585365853658536	30	0.08287292817679558	11	0.019230769230769232	6	0.0079155672823219	G	12.10	1.835842	0.32421	0.374318	0.022923	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.25749	1.79;1.81;1.78	4.96	4.13	0.48395	.	0.331832	0.35585	N	0.003112	T	0.00012	0.0000	L	0.38175	1.15	0.09310	P	0.9999999999999557	B;B;B	0.29301	0.067;0.034;0.241	B;B;B	0.33042	0.032;0.032;0.157	T	0.44697	-0.9311	9	0.12430	T	0.62	-26.7721	10.9773	0.47473	0.0879:0.0:0.9121:0.0	rs1051881;rs1803182;rs3192269;rs52807748;rs1051881	409;425;442	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	T	425;442;409	ENSP00000243498:S425T;ENSP00000368984:S442T;ENSP00000425782:S409T	ENSP00000243498:S425T	S	+	2	0	EXOSC9	122957415	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.232000	0.32636	1.462000	0.47948	-0.252000	0.11476	AGT	G|0.885;C|0.115	0.115	strong		0.299	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		C	122737965	G	C	122737965	3	2	22	1	0	0	0	0	1	0	0	0	5321	1029	36	4	1375	4	EXOSC9	4	122737965	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	483951	122737965	68416311	2761	7869										
BBS12	166379	hgsc.bcm.edu	37	chr4	123663098	123663098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagacacatgggacttcaAcaactttcatcattcgcgga	8	10	3	2	rs17006077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:123663098A>G	ENST00000314218.3	+	2	244	c.51A>G	c.(49-51)caA>caG	p.Q17Q	BBS12_ENST00000542236.1_Silent_p.Q17Q	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	17					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGGGACTTCAACAACTTTCAT	0.338									Bardet-Biedl syndrome				A|||	342	0.0682907	0.2398	0.0303	5008	,	,		20228	0.002		0.002	False		,,,				2504	0.0				p.Q17Q		Atlas-SNP	.											.	BBS12	63	.	0			c.A51G						PASS	.	A	,	919,3487	351.8+/-311.4	93,733,1377	88	87	87		51,51	-3.9	0.9	4	dbSNP_123	87	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous,coding-synonymous	BBS12	NM_001178007.1,NM_152618.2	,	93,752,5658	GG,GA,AA		0.2209,20.8579,7.2121	,	17/711,17/711	123663098	938,12068	2203	4300	6503	SO:0001819	synonymous_variant	166379	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ACTTCAACAACTT	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.51A>G	4.37:g.123663098A>G		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	326	162	0.496933	NM_001178007	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	CCDS3728.1																																																																																			A|0.927;G|0.073	0.073	strong		0.338	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		G	123663098	A	G	123663098	2	3	22	1	0	0	0	0	0	0	0	1	1337	40	2	2		2	BBS12	4	123663098	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	925133	123663098	67491178	2762	7870										
BBS12	166379	hgsc.bcm.edu	37	chr4	123664333	123664333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgaaaaatgtataaacaGtaagcggttggtaatcggct	10	4	0	1	rs7665271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:123664333G>C	ENST00000314218.3	+	2	1479	c.1286G>C	c.(1285-1287)aGt>aCt	p.S429T	BBS12_ENST00000542236.1_Missense_Mutation_p.S429T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	429			S -> T (in dbSNP:rs7665271).		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGTATAAACAGTAAGCGGTTG	0.453									Bardet-Biedl syndrome				G|||	186	0.0371406	0.1301	0.0173	5008	,	,		20575	0.0		0.002	False		,,,				2504	0.0				p.S429T		Atlas-SNP	.											.	BBS12	63	.	0			c.G1286C						PASS	.	G	THR/SER,THR/SER	451,3955	215.5+/-234.4	21,409,1773	75	79	78		1286,1286	-0.6	0	4	dbSNP_116	78	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense	BBS12	NM_001178007.1,NM_152618.2	58,58	21,421,6061	CC,CG,GG		0.1395,10.236,3.5599	possibly-damaging,possibly-damaging	429/711,429/711	123664333	463,12543	2203	4300	6503	SO:0001583	missense	166379	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TAAACAGTAAGCG	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1286G>C	4.37:g.123664333G>C	ENSP00000319062:p.Ser429Thr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	105	43	0.409524	NM_001178007	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	75	0.034340659340659344	65	0.13211382113821138	9	0.024861878453038673	0	0.0	1	0.0013192612137203166	G	0.004	-2.356069	0.00217	0.10236	0.001395	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.79033	-1.23;-1.23	5.58	-0.599	0.11645	.	0.533090	0.21899	N	0.067461	T	0.01627	0.0052	M	0.67953	2.075	0.80722	P	0.0	B	0.18461	0.028	B	0.15052	0.012	T	0.21177	-1.0253	9	0.38643	T	0.18	-14.2272	7.1191	0.25433	0.2915:0.3132:0.3953:0.0	rs7665271;rs7665271	429	Q6ZW61	BBS12_HUMAN	T	429	ENSP00000319062:S429T;ENSP00000438273:S429T	ENSP00000319062:S429T	S	+	2	0	BBS12	123883783	0.005000	0.15991	0.000000	0.03702	0.013000	0.08279	0.239000	0.18023	-0.537000	0.06290	-0.157000	0.13467	AGT	G|0.959;C|0.041	0.041	strong		0.453	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		C	123664333	G	C	123664333	3	2	22	1	0	0	0	0	1	0	0	0	1337	1029	36	4	1288	4	BBS12	4	123664333	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1235	123664333	67489943	2763	7871										
NUDT6	11162	hgsc.bcm.edu	37	chr4	123814170	123814170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagttgtattttcagtcttcGccaggtcattgagatccatc	9	9	3	1	rs138619142		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:123814170G>A	ENST00000304430.5	-	5	797	c.764C>T	c.(763-765)gCg>gTg	p.A255V	FGF2_ENST00000264498.3_3'UTR|FGF2_ENST00000608478.1_3'UTR|NUDT6_ENST00000339154.2_Missense_Mutation_p.A86V|NUDT6_ENST00000502270.1_Missense_Mutation_p.A86V|NUDT6_ENST00000608639.1_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	255	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TTCAGTCTTCGCCAGGTCATT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0				p.A255V		Atlas-SNP	.											.	NUDT6	50	.	0			c.C764T						PASS	.	G	,VAL/ALA,VAL/ALA	15,4391	22.3+/-47.3	0,15,2188	134	125	128		,764,257	-3.6	0	4	dbSNP_134	128	0,8600		0,0,4300	yes	utr-3,missense,missense	FGF2,NUDT6	NM_002006.4,NM_007083.3,NM_198041.1	,64,64	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	,benign,benign	,255/317,86/148	123814170	15,12991	2203	4300	6503	SO:0001583	missense	11162	exon5			GTCTTCGCCAGGT	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.764C>T	4.37:g.123814170G>A	ENSP00000306070:p.Ala255Val	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	231	114	0.493506	NM_007083	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.606796	0.00842	0.003404	0.0	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.29397	1.57;1.57;1.57	5.11	-3.64	0.04515	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.356862	0.31312	N	0.007867	T	0.14960	0.0361	L	0.41124	1.26	0.38646	D	0.951723	B	0.31241	0.315	B	0.24006	0.05	T	0.43410	-0.9393	10	0.02654	T	1	-8.3014	10.6191	0.45470	0.2019:0.0:0.6699:0.1282	.	255	P53370	NUDT6_HUMAN	V	255;86;86	ENSP00000306070:A255V;ENSP00000344011:A86V;ENSP00000424117:A86V	ENSP00000306070:A255V	A	-	2	0	NUDT6	124033620	0.857000	0.29778	0.016000	0.15963	0.203000	0.24098	1.354000	0.34056	-0.254000	0.09500	-0.312000	0.09012	GCG	G|0.998;A|0.002	0.002	strong		0.433	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		A	123814170	G	A	123814170	3	1	22	1	0	0	0	0	1	0	0	0	10743	1087	38	1	190	1	NUDT6	4	123814170	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149837	123814170	67340106	2764	7872										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125591687	125591687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcagcaacccgcagtgcAtttcttccatcataacctct	5	14	3	0	rs3733471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:125591687A>G	ENST00000504087.1	-	4	3782	c.2745T>C	c.(2743-2745)aaT>aaC	p.N915N	ANKRD50_ENST00000515641.1_Silent_p.N736N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	915										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCCGCAGTGCATTTCTTCCAT	0.408													G|||	1439	0.28734	0.3933	0.2233	5008	,	,		23630	0.2629		0.2107	False		,,,				2504	0.2935				p.N915N		Atlas-SNP	.											.	ANKRD50	136	.	0			c.T2745C						PASS	.	G	,	1571,2835	667.9+/-401.9	259,1053,891	100	97	98		2208,2745	-6.2	0.1	4	dbSNP_107	98	1803,6797	732.6+/-406.8	203,1397,2700	no	coding-synonymous,coding-synonymous	ANKRD50	NM_001167882.1,NM_020337.2	,	462,2450,3591	GG,GA,AA		20.9651,35.6559,25.9419	,	736/1251,915/1430	125591687	3374,9632	2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			CAGTGCATTTCTT	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2745T>C	4.37:g.125591687A>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	235	103	0.438298	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			A|0.742;G|0.258	0.258	strong		0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125591687	A	G	125591687	2	3	22	1	0	0	0	0	0	0	0	1	677	214	8	2		2	ANKRD50	4	125591687	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1777517	125591687	65562589	2765	7873										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125592065	125592065	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgatgcatgacccatagaCgctgctgctaagaggggtgt	13	9	0	4	rs10018651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:125592065C>A	ENST00000504087.1	-	4	3404	c.2367G>T	c.(2365-2367)gcG>gcT	p.A789A	ANKRD50_ENST00000515641.1_Silent_p.A610A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GACCCATAGACGCTGCTGCTA	0.458													A|||	1436	0.286741	0.3918	0.2233	5008	,	,		24284	0.2619		0.2107	False		,,,				2504	0.2935				p.A789A		Atlas-SNP	.											.	ANKRD50	136	.	0			c.G2367T						PASS	.	A	,	1568,2838	668.5+/-402.0	259,1050,894	141	131	134		1830,2367	-0.4	0.9	4	dbSNP_119	134	1800,6800	732.8+/-406.9	201,1398,2701	no	coding-synonymous,coding-synonymous	ANKRD50	NM_001167882.1,NM_020337.2	,	460,2448,3595	AA,AC,CC		20.9302,35.5878,25.8957	,	610/1251,789/1430	125592065	3368,9638	2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			CATAGACGCTGCT	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2367G>T	4.37:g.125592065C>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	203	93	0.458128	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			C|0.743;A|0.257	0.257	strong		0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		A	125592065	C	A	125592065	2	1	22	1	0	0	0	0	0	0	0	1	677	523	19	4		4	ANKRD50	4	125592065	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	378	125592065	65562211	2766	7874										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125592440	125592440	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacttcagcgccatgttgTagcaaattcagtacaatatc	6	10	3	0	rs3733472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:125592440T>C	ENST00000504087.1	-	4	3029	c.1992A>G	c.(1990-1992)ctA>ctG	p.L664L	ANKRD50_ENST00000515641.1_Silent_p.L485L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	664										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CGCCATGTTGTAGCAAATTCA	0.458													T|||	214	0.0427316	0.0492	0.0389	5008	,	,		24549	0.0208		0.0497	False		,,,				2504	0.0521				p.L664L		Atlas-SNP	.											.	ANKRD50	136	.	0			c.A1992G						PASS	.	T	,	215,4191	131.8+/-168.3	7,201,1995	193	163	173		1455,1992	-11	0.1	4	dbSNP_107	173	498,8102	143.7+/-199.7	7,484,3809	no	coding-synonymous,coding-synonymous	ANKRD50	NM_001167882.1,NM_020337.2	,	14,685,5804	CC,CT,TT		5.7907,4.8797,5.4821	,	485/1251,664/1430	125592440	713,12293	2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			ATGTTGTAGCAAA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1992A>G	4.37:g.125592440T>C		Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	306	147	0.480392	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			T|0.948;C|0.052	0.052	strong		0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		C	125592440	T	C	125592440	2	2	22	1	0	0	0	0	0	0	0	1	677	1625	57	2		2	ANKRD50	4	125592440	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	375	125592440	65561836	2767	7875										
FAT4	79633	hgsc.bcm.edu	37	chr4	126241335	126241335	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaaggaaatgaagaaagaCagtttgctatagacagtacc	9	5	0	4	rs36052762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:126241335C>G	ENST00000394329.3	+	1	3782	c.3769C>G	c.(3769-3771)Cag>Gag	p.Q1257E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1257	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAGAAAGACAGTTTGCTAT	0.373													C|||	544	0.108626	0.0234	0.1571	5008	,	,		19121	0.2014		0.0477	False		,,,				2504	0.1564				p.Q1257E		Atlas-SNP	.											.	FAT4	1752	.	0			c.C3769G						PASS	.	C	GLU/GLN	93,3617		4,85,1766	65	62	63		3769	3.9	1	4	dbSNP_126	63	364,7842		4,356,3743	yes	missense	FAT4	NM_024582.4	29	8,441,5509	GG,GC,CC		4.4358,2.5067,3.8352	benign	1257/4982	126241335	457,11459	1855	4103	5958	SO:0001583	missense	79633	exon1			GAAAGACAGTTTG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3769C>G	4.37:g.126241335C>G	ENSP00000377862:p.Gln1257Glu	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	208	0.09523809523809523	12	0.024390243902439025	48	0.13259668508287292	117	0.20454545454545456	31	0.040897097625329816	C	3.596	-0.082671	0.07141	0.025067	0.044358	ENSG00000196159	ENST00000394329	T	0.01106	5.33	4.81	3.89	0.44902	Cadherin (4);Cadherin-like (1);	0.000000	0.33040	U	0.005344	T	0.00012	0.0000	L	0.28274	0.84	0.09310	P	0.9999999999999951	B	0.21309	0.054	B	0.27500	0.08	T	0.62756	-0.6787	9	0.25751	T	0.34	.	15.6179	0.76780	0.1466:0.8534:0.0:0.0	rs36052762	1257	Q6V0I7	FAT4_HUMAN	E	1257	ENSP00000377862:Q1257E	ENSP00000377862:Q1257E	Q	+	1	0	FAT4	126460785	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	3.553000	0.53713	2.503000	0.84419	0.561000	0.74099	CAG	C|0.920;G|0.080	0.080	strong		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126241335	C	G	126241335	3	3	22	1	0	0	0	0	1	0	0	0	5692	479	17	4	3771	4	FAT4	4	126241335	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	648895	126241335	64912941	2768	7876										
FAT4	79633	hgsc.bcm.edu	37	chr4	126411594	126411594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccaaaaatcccaaagaGgagaagaaaccgaaggagaa	11	7	0	4	rs62312781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:126411594G>A	ENST00000394329.3	+	17	13630	c.13617G>A	c.(13615-13617)gaG>gaA	p.E4539E	FAT4_ENST00000335110.5_Silent_p.E2780E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4539					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCCCAAAGAGGAGAAGAAAC	0.522													G|||	786	0.156949	0.236	0.2349	5008	,	,		19314	0.0		0.1819	False		,,,				2504	0.1309				p.E4539E		Atlas-SNP	.											.	FAT4	1752	.	0			c.G13617A						PASS	.	G		916,3490	348.2+/-309.8	108,700,1395	69	72	71		13617	1.8	0.9	4	dbSNP_129	71	1587,7013	293.9+/-301.6	145,1297,2858	no	coding-synonymous	FAT4	NM_024582.4		253,1997,4253	AA,AG,GG		18.4535,20.7898,19.245		4539/4982	126411594	2503,10503	2203	4300	6503	SO:0001819	synonymous_variant	79633	exon17			CAAAGAGGAGAAG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13617G>A	4.37:g.126411594G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			G|0.825;A|0.175	0.175	strong		0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126411594	G	A	126411594	2	1	22	1	0	0	0	0	0	0	0	1	5692	991	35	2		2	FAT4	4	126411594	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	170259	126411594	64742682	2769	7877										
INTU	27152	hgsc.bcm.edu	37	chr4	128565000	128565000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtcattgtccaacagcgAtacaaagatgtgaatgttta	10	6	1	2	rs3749507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:128565000A>G	ENST00000335251.6	+	2	574	c.471A>G	c.(469-471)cgA>cgG	p.R157R	INTU_ENST00000296461.5_Silent_p.R157R	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	157					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCCAACAGCGATACAAAGATG	0.398													G|||	3087	0.616414	0.6725	0.5778	5008	,	,		21138	0.5506		0.5368	False		,,,				2504	0.7178				p.R157R		Atlas-SNP	.											INTU,NS,carcinoma,+1,1	INTU	92	1	0			c.A471G						PASS	.	G		2821,1585	492.4+/-362.4	897,1027,279	96	95	95		471	0.6	0.2	4	dbSNP_107	95	4515,4085	561.9+/-387.9	1189,2137,974	no	coding-synonymous	INTU	NM_015693.3		2086,3164,1253	GG,GA,AA		47.5,35.9737,43.5953		157/943	128565000	7336,5670	2203	4300	6503	SO:0001819	synonymous_variant	27152	exon2			ACAGCGATACAAA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.471A>G	4.37:g.128565000A>G		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	295	150	0.508475	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	CCDS34061.1																																																																																			A|0.427;G|0.573	0.573	strong		0.398	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		G	128565000	A	G	128565000	2	3	22	1	0	0	0	0	0	0	0	1	7786	320	12	2		2	INTU	4	128565000	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2153406	128565000	62589276	2770	7878										
PLK4	10733	hgsc.bcm.edu	37	chr4	128808620	128808620	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacctcagactgaaaccgtAcaacagtggtttgggaatct	9	10	2	2	rs112831813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:128808620A>T	ENST00000270861.5	+	6	1702	c.1428A>T	c.(1426-1428)gtA>gtT	p.V476V	PLK4_ENST00000515069.1_Silent_p.V476V|PLK4_ENST00000507249.1_Silent_p.V442V|PLK4_ENST00000514379.1_Silent_p.V435V|PLK4_ENST00000513090.1_Silent_p.V444V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	476					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTGAAACCGTACAACAGTGGT	0.363													A|||	26	0.00519169	0.0182	0.0029	5008	,	,		16496	0.0		0.0	False		,,,				2504	0.0				p.V476V	Colon(135;508 1718 19061 31832 42879)	Atlas-SNP	.											.	PLK4	65	.	0			c.A1428T						PASS	.	A	,,	76,4330	65.8+/-103.3	0,76,2127	65	66	65		1332,1305,1428	-5.6	0.9	4	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PLK4	NM_001190799.1,NM_001190801.1,NM_014264.4	,,	0,77,6426	TT,TA,AA		0.0116,1.7249,0.592	,,	444/939,435/930,476/971	128808620	77,12929	2203	4300	6503	SO:0001819	synonymous_variant	10733	exon6			AACCGTACAACAG	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1428A>T	4.37:g.128808620A>T		Somatic	406	0	0		WXS	Illumina HiSeq	Phase_I	482	238	0.493776	NM_014264	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																			A|0.993;T|0.007	0.007	strong		0.363	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			T	128808620	A	T	128808620	2	4	22	1	0	0	0	0	0	0	0	1	12098	378	14	5		5	PLK4	4	128808620	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	243620	128808620	62345656	2771	7879										
MFSD8	256471	hgsc.bcm.edu	37	chr4	128842761	128842761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctaatcctattagcacaGctgatgtaaggaactgggcc	10	10	0	1	rs3733319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:128842761G>A	ENST00000296468.3	-	12	1395	c.1268C>T	c.(1267-1269)gCt>gTt	p.A423V	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.A378V	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	423			A -> V (in dbSNP:rs3733319). {ECO:0000269|PubMed:14702039}.		cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TATTAGCACAGCTGATGTAAG	0.453													A|||	615	0.122804	0.1815	0.1023	5008	,	,		16924	0.2649		0.0209	False		,,,				2504	0.0164				p.A423V		Atlas-SNP	.											.	MFSD8	46	.	0			c.C1268T						PASS	.	A	VAL/ALA	798,3608	751.5+/-412.2	80,638,1485	107	111	109		1268	0.1	0	4	dbSNP_107	109	120,8480	814.0+/-407.0	0,120,4180	yes	missense	MFSD8	NM_152778.2	64	80,758,5665	AA,AG,GG		1.3953,18.1117,7.0583	benign	423/519	128842761	918,12088	2203	4300	6503	SO:0001583	missense	256471	exon12			AGCACAGCTGATG	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1268C>T	4.37:g.128842761G>A	ENSP00000296468:p.Ala423Val	Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	221	110	0.497738	NM_152778	B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	CCDS3736.1	306	0.1401098901098901	81	0.16463414634146342	36	0.09944751381215469	169	0.29545454545454547	20	0.026385224274406333	A	9.089	1.001328	0.19121	0.181117	0.013953	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.74947	-0.89;-0.89	5.17	0.137	0.14787	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.428219	0.25227	N	0.032194	T	0.00012	0.0000	L	0.37630	1.12	0.23198	P	0.9981352	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	9	0.17369	T	0.5	0.0037	1.9931	0.03451	0.3111:0.0917:0.4196:0.1776	rs3733319;rs52801898;rs3733319	423	Q8NHS3	MFSD8_HUMAN	V	423;378	ENSP00000296468:A423V;ENSP00000425000:A378V	ENSP00000296468:A423V	A	-	2	0	MFSD8	129062211	0.981000	0.34729	0.000000	0.03702	0.872000	0.50106	1.508000	0.35769	-0.468000	0.06922	-1.322000	0.01289	GCT	G|0.894;A|0.106	0.106	strong		0.453	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		A	128842761	G	A	128842761	3	1	22	1	0	0	0	0	1	0	0	0	9538	971	34	2	296	2	MFSD8	4	128842761	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34141	128842761	62311515	2772	7880										
C4orf29	80167	hgsc.bcm.edu	37	chr4	128949929	128949929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacttagtaaagaacaaagCagaaacagtcttcggaaaga	8	7	1	3	rs60505265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:128949929C>A	ENST00000444616.1	+	10	1246	c.999C>A	c.(997-999)agC>agA	p.S333R	C4orf29_ENST00000398965.1_Missense_Mutation_p.S333R|C4orf29_ENST00000388795.5_Missense_Mutation_p.S285R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	333						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AAGAACAAAGCAGAAACAGTC	0.353													A|||	439	0.0876597	0.0499	0.0908	5008	,	,		16709	0.2718		0.0199	False		,,,				2504	0.0164				p.S333R		Atlas-SNP	.											.	C4orf29	58	.	0			c.C999A						PASS	.	A	ARG/SER	180,3580		3,174,1703	69	68	68		999	2.3	1	4	dbSNP_129	68	109,8109		0,109,4000	yes	missense	C4orf29	NM_001039717.1	110	3,283,5703	AA,AC,CC		1.3264,4.7872,2.4128	benign	333/415	128949929	289,11689	1880	4109	5989	SO:0001583	missense	80167	exon10			ACAAAGCAGAAAC	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.999C>A	4.37:g.128949929C>A	ENSP00000397229:p.Ser333Arg	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	146	63	0.431507	NM_001039717	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		243	0.11126373626373626	21	0.042682926829268296	34	0.09392265193370165	168	0.2937062937062937	20	0.026385224274406333	A	3.744	-0.052957	0.07362	0.047872	0.013264	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.87	2.29	0.28610	.	0.536720	0.22287	N	0.062052	T	0.00012	0.0000	N	0.00554	-1.385	0.58432	P	8.000000000008E-6	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.39781	-0.9597	8	0.09338	T	0.73	-22.5133	4.8553	0.13555	0.5075:0.2999:0.1925:0.0	rs60505265	285;333	B7WP89;Q0P651	.;CD029_HUMAN	R	333;164;333;333;285;251;240	.	ENSP00000373447:S285R	S	+	3	2	C4orf29	129169379	1.000000	0.71417	0.956000	0.39512	0.687000	0.40016	1.111000	0.31159	0.323000	0.23307	-0.264000	0.10439	AGC	C|0.909;A|0.091	0.091	strong		0.353	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		A	128949929	C	A	128949929	3	1	22	1	0	0	0	0	1	0	0	0	2259	709	25	4	1033	4	C4orf29	4	128949929	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107168	128949929	62204347	2773	7881										
C4orf49	84709	hgsc.bcm.edu	37	chr4	140187985	140187985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccgtggtttccctcgccGctgcatctgtgacctctggc	10	16	2	1	rs544624566|rs6823412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:140187985G>A	ENST00000398955.1	-	4	670	c.491C>T	c.(490-492)gCg>gTg	p.A164V		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	164					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TTCCCTCGCCGCTGCATCTGT	0.532													G|||	179	0.0357428	0.1278	0.0144	5008	,	,		17899	0.0		0.0	False		,,,				2504	0.0				p.A164V		Atlas-SNP	.											.	.	.	.	0			c.C491T						PASS	.	G	VAL/ALA	512,3560		40,432,1564	193	188	189		491	-3	0	4	dbSNP_116	189	11,8371		0,11,4180	yes	missense	C4orf49	NM_032623.3	64	40,443,5744	AA,AG,GG		0.1312,12.5737,4.1995	benign	164/241	140187985	523,11931	2036	4191	6227	SO:0001583	missense	84709	exon4			CTCGCCGCTGCAT	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.491C>T	4.37:g.140187985G>A	ENSP00000381928:p.Ala164Val	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	189	98	0.518519	NM_032623	Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	56	0.02564102564102564	50	0.1016260162601626	6	0.016574585635359115	0	0.0	0	0.0	G	12.97	2.097423	0.37048	0.125737	0.001312	ENSG00000137463	ENST00000398955	T	0.57752	0.38	5.23	-3.02	0.05446	.	1.807910	0.02960	N	0.142981	T	0.00384	0.0012	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.13737	-1.0498	10	0.72032	D	0.01	-14.4927	1.2453	0.01971	0.1551:0.2366:0.2469:0.3614	rs6823412	164	Q8TDB4	CD049_HUMAN	V	164	ENSP00000381928:A164V	ENSP00000381928:A164V	A	-	2	0	C4orf49	140407435	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.580000	0.05827	-0.266000	0.09339	0.467000	0.42956	GCG	G|0.983;A|0.017	0.017	strong		0.532	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		A	140187985	G	A	140187985	3	1	22	1	0	0	0	0	1	0	0	0	2275	1087	38	1	235	1	C4orf49	4	140187985	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11238056	140187985	50966291	2774	7882										
C4orf49	84709	hgsc.bcm.edu	37	chr4	140201259	140201259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagcggcgcggggttgggGggcgccctcagcggcagcgc	21	14	1	0	rs28536098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:140201259G>A	ENST00000398955.1	-	1	233	c.54C>T	c.(52-54)ccC>ccT	p.P18P		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	18					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											CGGGGTTGGGGGGCGCCCTCA	0.721													G|||	426	0.0850639	0.2988	0.0274	5008	,	,		14723	0.001		0.0	False		,,,				2504	0.0112				p.P18P		Atlas-SNP	.											.	.	.	.	0			c.C54T						PASS	.	G		921,2799		112,697,1051	14	17	16		54	2	1	4	dbSNP_125	16	18,8074		0,18,4028	no	coding-synonymous	C4orf49	NM_032623.3		112,715,5079	AA,AG,GG		0.2224,24.7581,7.9495		18/241	140201259	939,10873	1860	4046	5906	SO:0001819	synonymous_variant	84709	exon1			GTTGGGGGGCGCC	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.54C>T	4.37:g.140201259G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_032623	Q9BZC3	Silent	SNP	ENST00000398955.1	37	CCDS43269.1																																																																																			G|0.947;A|0.053	0.053	strong		0.721	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		A	140201259	G	A	140201259	2	1	22	1	0	0	0	0	0	0	0	1	2275	1219	43	2		2	C4orf49	4	140201259	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13274	140201259	50953017	2775	7883										
MAML3	55534	hgsc.bcm.edu	37	chr4	140640703	140640703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatctgctgctgtgctgggGgctggctgaacgctggcatg	17	9	1	1	rs61747885	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:140640703G>T	ENST00000509479.2	-	5	4047	c.3191C>A	c.(3190-3192)cCc>cAc	p.P1064H	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CTGTGCTGGGGGCTGGCTGAA	0.617													G|||	548	0.109425	0.0378	0.0922	5008	,	,		19107	0.1567		0.1412	False		,,,				2504	0.137				p.P1060H		Atlas-SNP	.											.	MAML3	192	.	0			c.C3179A						PASS	.	G	,,HIS/PRO	233,4165	118.0+/-155.7	5,223,1971	32	36	35		,,3191	4.8	1	4	dbSNP_129	35	1342,7250	253.9+/-279.4	104,1134,3058	yes	intron,intron,missense	MGST2,MAML3	NM_001204366.1,NM_001204367.1,NM_018717.4	,,77	109,1357,5029	TT,TG,GG		15.6192,5.2979,12.1247	,,possibly-damaging	,,1064/1139	140640703	1575,11415	2199	4296	6495	SO:0001583	missense	55534	exon6			GCTGGGGGCTGGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3191C>A	4.37:g.140640703G>T	ENSP00000421180:p.Pro1064His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	260	0.11904761904761904	20	0.04065040650406504	47	0.1298342541436464	81	0.14160839160839161	112	0.14775725593667546	G	13.86	2.363105	0.41902	0.052979	0.156192	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.24350	1.86	4.78	4.78	0.61160	.	0.642458	0.15615	N	0.253161	T	0.00144	0.0004	M	0.70595	2.14	0.09310	P	1.0	P;P	0.45348	0.856;0.856	B;B	0.40101	0.319;0.319	T	0.11743	-1.0575	9	0.44086	T	0.13	.	18.1787	0.89769	0.0:0.0:1.0:0.0	rs61747885	1064;1060	E7EVW8;Q96JK9	.;MAML3_HUMAN	H	1064;371	ENSP00000421180:P1064H	ENSP00000421180:P1064H	P	-	2	0	MAML3	140860153	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	5.774000	0.68906	2.342000	0.79632	0.591000	0.81541	CCC	G|0.877;T|0.123	0.123	strong		0.617	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140640703	G	T	140640703	3	4	22	1	0	0	0	0	1	0	0	0	9207	1232	43	4	229	4	MAML3	4	140640703	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	439444	140640703	50513573	2776	7884										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811131	140811131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgctgctgttgctgttGctgtttctgctgcatgagtt	12	9	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:140811131G>T	ENST00000509479.2	-	2	2315	c.1459C>A	c.(1459-1461)Caa>Aaa	p.Q487K	MAML3_ENST00000398940.1_Missense_Mutation_p.Q26K|MAML3_ENST00000327122.5_Missense_Mutation_p.Q331K	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgttgctgttgctgtttctgc	0.557																																					p.Q487K		Atlas-SNP	.											.	MAML3	192	.	0			c.C1459A						PASS	.						19	21	20					4																	140811131		2198	4294	6492	SO:0001583	missense	55534	exon2			GCTGTTGCTGTTT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1459C>A	4.37:g.140811131G>T	ENSP00000421180:p.Gln487Lys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	93	7	0.0752688	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	1.344	-0.593356	0.03771	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.66460	0.85;-0.21	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	N	0.08118	0	0.46499	D	0.999073	B	0.19200	0.034	B	0.18871	0.023	T	0.36359	-0.9751	10	0.02654	T	1	.	12.5248	0.56079	0.0:0.0:1.0:0.0	.	487	Q96JK9	MAML3_HUMAN	K	487;331;26	ENSP00000421180:Q487K;ENSP00000313316:Q331K	ENSP00000313316:Q331K	Q	-	1	0	MAML3	141030581	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.453000	0.73488	2.671000	0.90904	0.650000	0.86243	CAA	.	.	none		0.557	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811131	G	T	140811131	3	4	22	1	0	0	0	0	1	0	0	0	9207	1328	46	4	1965	4	MAML3	4	140811131	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	170428	140811131	50343145	2777	7885										
SCOC	60592	hgsc.bcm.edu	37	chr4	141294814	141294814	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggggtcagttggtccaaGtgtcccggcctgaggtgtcg	17	11	1	1	rs2271430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:141294814G>C	ENST00000608372.1	+	1	151	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	SCOC_ENST00000502535.1_5'Flank|RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000394201.4_5'UTR|RP11-425I13.3_ENST00000608178.1_RNA|RP11-425I13.3_ENST00000609616.1_RNA|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000338517.4_Intron|SCOC_ENST00000506322.1_Intron|SCOC_ENST00000394203.3_Intron|SCOC_ENST00000512749.1_Intron|SCOC_ENST00000506597.1_Missense_Mutation_p.V42L|SCOC_ENST00000510586.1_5'UTR			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	42					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTTGGTCCAAGTGTCCCGGCC	0.711													G|||	607	0.121206	0.0855	0.1095	5008	,	,		13039	0.2302		0.0775	False		,,,				2504	0.1104				p.V42L		Atlas-SNP	.											SCOC_ENST00000394201,NS,carcinoma,0,1	SCOC	11	1	0			c.G124C						PASS	.	G	,LEU/VAL,LEU/VAL,,,LEU/VAL,,	145,1239		10,125,557	50	59	56		,124,124,,,124,,	3.3	0	4	dbSNP_100	56	283,2899		11,261,1319	yes	intron,missense,missense,intron,intron,missense,intron,intron	SCOC	NM_001153446.1,NM_001153484.1,NM_001153552.1,NM_001153585.1,NM_001153635.1,NM_001153663.1,NM_001153690.1,NM_032547.2	,32,32,,,32,,	21,386,1876	CC,CG,GG		8.8938,10.4769,9.3736	,,,,,,,	,42/160,42/132,,,42/159,,	141294814	428,4138	692	1591	2283	SO:0001583	missense	60592	exon1			GTCCAAGTGTCCC	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.124G>C	4.37:g.141294814G>C	ENSP00000477352:p.Val42Leu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	115	62	0.53913	NM_001153484	B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	ENST00000608372.1	37	CCDS54806.1	233	0.10668498168498168	50	0.1016260162601626	37	0.10220994475138122	101	0.17657342657342656	45	0.059366754617414245	G	11.66	1.706169	0.30232	0.104769	0.088938	ENSG00000153130	ENST00000394201;ENST00000506597	.	.	.	5.17	3.31	0.37934	.	1.941280	0.03143	N	0.166893	T	0.00073	0.0002	N	0.24115	0.695	0.51012	P	9.999999999998899E-5	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.05321	-1.0892	8	0.41790	T	0.15	-16.3881	6.4476	0.21885	0.0982:0.1853:0.7164:0.0	rs2271430;rs17226920;rs52830427;rs2271430	42;42	E9PB65;Q9UIL1	.;SCOC_HUMAN	L	42	.	ENSP00000377751:V42L	V	+	1	0	SCOC	141514264	0.006000	0.16342	0.001000	0.08648	0.035000	0.12851	1.368000	0.34216	1.303000	0.44873	0.563000	0.77884	GTG	G|0.887;C|0.113	0.113	strong		0.711	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			C	141294814	G	C	141294814	3	2	22	1	0	0	0	0	1	0	0	0	13933	1029	36	4	200	4	SCOC	4	141294814	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	483683	141294814	49859462	2778	7886										
CLGN	1047	hgsc.bcm.edu	37	chr4	141317068	141317068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactcaccacacccaatccGacatgctggattaagaatct	5	15	2	1	rs12513290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:141317068G>A	ENST00000325617.5	-	10	1494	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CLGN_ENST00000537281.1_Missense_Mutation_p.R352W|CLGN_ENST00000414773.1_Missense_Mutation_p.R352W	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	352			R -> W (in dbSNP:rs12513290).		binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCCAATCCGACATGCTGGA	0.433													G|||	575	0.114816	0.031	0.1066	5008	,	,		16562	0.2054		0.0905	False		,,,				2504	0.1656				p.R352W		Atlas-SNP	.											.	CLGN	76	.	0			c.C1054T						PASS	.	G	TRP/ARG,TRP/ARG	178,4228	115.4+/-153.4	2,174,2027	95	89	91		1054,1054	2.9	0.5	4	dbSNP_120	91	696,7904	172.2+/-222.9	20,656,3624	yes	missense,missense	CLGN	NM_001130675.1,NM_004362.2	101,101	22,830,5651	AA,AG,GG		8.093,4.0399,6.72	probably-damaging,probably-damaging	352/611,352/611	141317068	874,12132	2203	4300	6503	SO:0001583	missense	1047	exon11			CAATCCGACATGC	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1054C>T	4.37:g.141317068G>A	ENSP00000326699:p.Arg352Trp	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	186	82	0.44086	NM_001130675	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	237	0.10851648351648352	9	0.018292682926829267	40	0.11049723756906077	117	0.20454545454545456	71	0.09366754617414248	G	18.84	3.708290	0.68615	0.040399	0.08093	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.51071	0.72;0.72;0.72	5.84	2.91	0.33838	Calreticulin/calnexin, P (2);	0.910390	0.09524	N	0.790437	T	0.00039	0.0001	N	0.03983	-0.305	0.42398	P	0.007441000000000031	D	0.61080	0.989	P	0.55303	0.773	T	0.09015	-1.0694	9	0.62326	D	0.03	0.2054	8.164	0.31215	0.0:0.3769:0.4022:0.2209	rs12513290;rs57052004;rs12513290	352	O14967	CLGN_HUMAN	W	352;352;352;269	ENSP00000326699:R352W;ENSP00000392782:R352W;ENSP00000439381:R352W	ENSP00000326699:R352W	R	-	1	2	CLGN	141536518	0.997000	0.39634	0.452000	0.26994	0.561000	0.35649	3.127000	0.50484	1.466000	0.48025	-0.320000	0.08662	CGG	G|0.909;A|0.091	0.091	strong		0.433	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		A	141317068	G	A	141317068	3	1	22	1	0	0	0	0	1	0	0	0	3524	1057	37	1	802	1	CLGN	4	141317068	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22254	141317068	49837208	2779	7887										
TBC1D9	23158	hgsc.bcm.edu	37	chr4	141600320	141600320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagggtggcattcttctcAagctgagtgatgtctaccca	11	10	3	2	rs4956329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:141600320A>G	ENST00000442267.2	-	5	701	c.627T>C	c.(625-627)ctT>ctC	p.L209L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	209	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATTCTTCTCAAGCTGAGTGA	0.478													G|||	3180	0.634984	0.6884	0.6124	5008	,	,		18897	0.5655		0.668	False		,,,				2504	0.6166				p.L209L		Atlas-SNP	.											.	TBC1D9	198	.	0			c.T627C						PASS	.	G		2844,1246		983,878,184	134	130	131		627	-10.9	0.1	4	dbSNP_111	131	5706,2696		1964,1778,459	no	coding-synonymous	TBC1D9	NM_015130.2		2947,2656,643	GG,GA,AA		32.0876,30.4645,31.5562		209/1267	141600320	8550,3942	2045	4201	6246	SO:0001819	synonymous_variant	23158	exon5			CTTCTCAAGCTGA	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.627T>C	4.37:g.141600320A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	125	65	0.52	NM_015130	A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	CCDS47136.1																																																																																			A|0.352;G|0.648	0.648	strong		0.478	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		G	141600320	A	G	141600320	2	3	22	1	0	0	0	0	0	0	0	1	15624	117	5	2		2	TBC1D9	4	141600320	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	283252	141600320	49553956	2780	7888										
ZNF330	27309	hgsc.bcm.edu	37	chr4	142155072	142155072	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatactgagtcatcagatTtgtttactaatttgaattta	6	5	2	4	rs34631212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:142155072T>A	ENST00000262990.4	+	10	1120	c.892T>A	c.(892-894)Ttg>Atg	p.L298M	ZNF330_ENST00000421169.2_Missense_Mutation_p.L238M	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	298			L -> M (in dbSNP:rs34631212).			chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GTCATCAGATTTGTTTACTAA	0.453													T|||	199	0.0397364	0.1437	0.0115	5008	,	,		20408	0.0		0.001	False		,,,				2504	0.0				p.L298M		Atlas-SNP	.											.	ZNF330	31	.	0			c.T892A						PASS	.	T	MET/LEU	459,3947	218.4+/-236.5	16,427,1760	127	133	131		892	2.1	1	4	dbSNP_126	131	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF330	NM_014487.4	15	16,430,6057	AA,AT,TT		0.0349,10.4176,3.5522	benign	298/321	142155072	462,12544	2203	4300	6503	SO:0001583	missense	27309	exon10			TCAGATTTGTTTA	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.892T>A	4.37:g.142155072T>A	ENSP00000262990:p.Leu298Met	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	164	74	0.451219	NM_014487	B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	CCDS3754.1	73	0.033424908424908424	68	0.13821138211382114	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	T	13.71	2.318489	0.40996	0.104176	3.49E-4	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.31510	1.49;1.49	6.17	2.08	0.27032	.	0.358122	0.29212	N	0.012804	T	0.00144	0.0004	N	0.14661	0.345	0.28660	N	0.906172	B;B	0.29716	0.255;0.225	B;B	0.39771	0.146;0.309	T	0.15378	-1.0439	10	0.36615	T	0.2	-31.7734	6.1183	0.20139	0.0:0.456:0.2274:0.3166	rs34631212;rs57194793	238;298	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	M	298;238	ENSP00000262990:L298M;ENSP00000397397:L238M	ENSP00000262990:L298M	L	+	1	2	ZNF330	142374522	0.504000	0.26123	1.000000	0.80357	0.990000	0.78478	0.442000	0.21628	0.416000	0.25844	0.533000	0.62120	TTG	T|0.968;A|0.032	0.032	strong		0.453	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		A	142155072	T	A	142155072	3	1	22	1	0	0	0	0	1	0	0	0	17845	1838	64	5	926	5	ZNF330	4	142155072	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	554752	142155072	48999204	2781	7889										
INPP4B	8821	hgsc.bcm.edu	37	chr4	143043340	143043340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcaattattttaaatgcAactttctttaaatcggaaat	4	6	2	0	rs2270658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:143043340A>G	ENST00000513000.1	-	22	2509	c.2076T>C	c.(2074-2076)gtT>gtC	p.V692V	INPP4B_ENST00000262992.4_Silent_p.V692V|INPP4B_ENST00000508116.1_Silent_p.V692V|INPP4B_ENST00000509777.1_Silent_p.V692V|INPP4B_ENST00000308502.4_Silent_p.V692V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	692					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTTAAATGCAACTTTCTTTA	0.393													G|||	747	0.149161	0.205	0.1052	5008	,	,		18794	0.2321		0.0815	False		,,,				2504	0.089				p.V692V		Atlas-SNP	.											.	INPP4B	132	.	0			c.T2076C						PASS	.	G	,	753,3653	754.5+/-412.5	60,633,1510	130	121	124		2076,2076	-11.7	0.1	4	dbSNP_100	124	880,7720	778.6+/-407.7	44,792,3464	no	coding-synonymous,coding-synonymous	INPP4B	NM_001101669.1,NM_003866.2	,	104,1425,4974	GG,GA,AA		10.2326,17.0903,12.5557	,	692/925,692/925	143043340	1633,11373	2203	4300	6503	SO:0001819	synonymous_variant	8821	exon22			AAATGCAACTTTC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2076T>C	4.37:g.143043340A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																			A|0.867;G|0.133	0.133	strong		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		G	143043340	A	G	143043340	2	3	22	1	0	0	0	0	0	0	0	1	7753	117	5	2		2	INPP4B	4	143043340	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	888268	143043340	48110936	2782	7890										
GYPA	2994	hgsc.bcm.edu	37	chr4	145041720	145041720	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	7	10	2	1	rs7682260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:145041720A>G	ENST00000283126.7	-	1	93				GYPA_ENST00000512789.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.L20S|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.L20S|GYPA_ENST00000535709.1_5'UTR|GYPA_ENST00000504786.1_Missense_Mutation_p.L20S|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000360771.4_Missense_Mutation_p.L20S			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353													G|||	1428	0.285144	0.1944	0.3545	5008	,	,		12360	0.3125		0.2813	False		,,,				2504	0.3344				p.L20S		Atlas-SNP	.											GYPA,NS,carcinoma,0,1	GYPA	27	1	0			c.T59C						scavenged	.	G	SER/LEU	737,3513		243,251,1631	57	30	39		59	-3.4	0	4	dbSNP_116	39	1997,6329		706,585,2872	no	missense	GYPA	NM_002099.6	145	949,836,4503	GG,GA,AA		23.9851,17.3412,21.7398	benign	20/151	145041720	2734,9842	2125	4163	6288	SO:0001627	intron_variant	2993	exon2			GTACTTAATGCTG		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+20031T>C	4.37:g.145041720A>G		Somatic	181	29	0.160221		WXS	Illumina HiSeq	Phase_I	196	30	0.153061	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	G	2.787	-0.252207	0.05829	0.173412	0.239851	ENSG00000170180	ENST00000360771;ENST00000512064;ENST00000504786;ENST00000503627;ENST00000394119	T;T;T;T	0.04809	4.59;4.61;4.54;3.55	1.71	-3.42	0.04825	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46555	-0.9183	7	0.52906	T	0.07	.	0.8306	0.01129	0.3297:0.3169:0.194:0.1595	rs7682260;rs17845377;rs17858231	20;20;20	E9PD10;E7EQF3;Q16336	.;.;.	S	20	ENSP00000354003:L20S;ENSP00000426130:L20S;ENSP00000425549:L20S;ENSP00000421243:L20S	ENSP00000354003:L20S	L	-	2	0	GYPA	145261170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-2.458000	0.00538	-2.395000	0.00226	TTA	A|0.519;G|0.481	0.481	strong		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		G	145041720	A	G	145041720	1	3	22	0	1	0	0	0	0	0	0	0	6908	372	13	2		2	GYPA	4	145041720	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1998380	145041720	46112556	2783	7891										
MMAA	166785	hgsc.bcm.edu	37	chr4	146576418	146576418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaaacgacggaagcaacaGaaagtttggatgtggaatct	12	7	1	1	rs2270655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:146576418G>C	ENST00000281317.5	+	7	2299	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	MMAA_ENST00000541599.1_Missense_Mutation_p.Q82H	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	363			Q -> H (in dbSNP:rs2270655). {ECO:0000269|PubMed:15523652}.		cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAGCAACAGAAAGTTTGGA	0.478													G|||	405	0.0808706	0.0477	0.0605	5008	,	,		15287	0.0942		0.0447	False		,,,				2504	0.1636				p.Q363H		Atlas-SNP	.											.	MMAA	46	.	0			c.G1089C	GRCh37	CD043682	MMAA	D	rs2270655	PASS	.	G	HIS/GLN	202,4204	128.2+/-165.1	9,184,2010	106	107	107		1089	4.8	1	4	dbSNP_100	107	461,8139	137.8+/-194.7	8,445,3847	yes	missense	MMAA	NM_172250.2	24	17,629,5857	CC,CG,GG		5.3605,4.5847,5.0976	benign	363/419	146576418	663,12343	2203	4300	6503	SO:0001583	missense	166785	exon7			GCAACAGAAAGTT	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.1089G>C	4.37:g.146576418G>C	ENSP00000281317:p.Gln363His	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	126	57	0.452381	NM_172250	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	132	0.06043956043956044	22	0.044715447154471545	21	0.058011049723756904	55	0.09615384615384616	34	0.044854881266490766	G	13.49	2.252058	0.39797	0.045847	0.053605	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	D;D	0.91351	-2.83;-2.83	5.69	4.84	0.62591	.	0.152974	0.64402	N	0.000013	T	0.15912	0.0383	L	0.35793	1.09	0.22050	P	0.999397658	B	0.06786	0.001	B	0.09377	0.004	T	0.65664	-0.6113	9	0.38643	T	0.18	-3.2926	9.8119	0.40828	0.0732:0.1462:0.7807:0.0	rs2270655;rs52810156;rs2270655	363	Q8IVH4	MMAA_HUMAN	H	363;363;82	ENSP00000281317:Q363H;ENSP00000442284:Q82H	ENSP00000281317:Q363H	Q	+	3	2	MMAA	146795868	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	3.159000	0.50731	1.380000	0.46344	0.561000	0.74099	CAG	G|0.944;C|0.056	0.056	strong		0.478	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			C	146576418	G	C	146576418	3	2	22	1	0	0	0	0	1	0	0	0	9639	933	33	4	1111	4	MMAA	4	146576418	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1534698	146576418	44577858	2784	7892										
C4orf51	646603	hgsc.bcm.edu	37	chr4	146653620	146653620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcttcatggacggtgcGattctgaaagcaaggtttgc	12	9	2	1	rs10008599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:146653620G>A	ENST00000438731.1	+	6	517	c.517G>A	c.(517-519)Gat>Aat	p.D173N	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	173										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TGGACGGTGCGATTCTGAAAG	0.473													G|||	386	0.0770767	0.1362	0.0778	5008	,	,		13978	0.001		0.1183	False		,,,				2504	0.0327				p.D173N		Atlas-SNP	.											.	C4orf51	18	.	0			c.G517A						PASS	.	G	ASN/ASP	473,3461		36,401,1530	58	61	60		517	-0.4	0	4	dbSNP_119	60	1010,7298		64,882,3208	yes	missense	C4orf51	NM_001080531.1	23	100,1283,4738	AA,AG,GG		12.157,12.0234,12.114	possibly-damaging	173/203	146653620	1483,10759	1967	4154	6121	SO:0001583	missense	646603	exon6			CGGTGCGATTCTG		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.517G>A	4.37:g.146653620G>A	ENSP00000391404:p.Asp173Asn	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	143	76	0.531469	NM_001080531		Missense_Mutation	SNP	ENST00000438731.1	37	CCDS47140.1	188	0.08608058608058608	63	0.12804878048780488	32	0.08839779005524862	1	0.0017482517482517483	92	0.12137203166226913	G	16.17	3.046140	0.55110	0.120234	0.12157	ENSG00000237136	ENST00000438731	.	.	.	3.77	-0.356	0.12583	.	.	.	.	.	T	0.00241	0.0007	N	0.24115	0.695	0.80722	P	0.0	B	0.21688	0.059	B	0.12837	0.008	T	0.13176	-1.0519	7	0.87932	D	0	.	2.3842	0.04362	0.1325:0.1847:0.4956:0.1872	rs10008599	173	C9J302	CD051_HUMAN	N	173	.	ENSP00000391404:D173N	D	+	1	0	C4orf51	146873070	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.031000	0.12287	-0.097000	0.12307	0.555000	0.69702	GAT	G|0.908;A|0.092	0.092	strong		0.473	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		A	146653620	G	A	146653620	3	1	22	1	0	0	0	0	1	0	0	0	2277	1058	37	1	539	1	C4orf51	4	146653620	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77202	146653620	44500656	2785	7893										
TTC29	83894	hgsc.bcm.edu	37	chr4	147788709	147788709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagcccaagtagtaagaggCttccgcttccatctttttgt	8	10	1	1	rs10013280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:147788709C>T	ENST00000325106.4	-	8	1052	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TTC29_ENST00000513335.1_Missense_Mutation_p.A302T|TTC29_ENST00000398886.4_Missense_Mutation_p.A302T	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	276			A -> T (in dbSNP:rs10013280). {ECO:0000269|Ref.1, ECO:0000269|Ref.2}.					p.A276T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TAGTAAGAGGCTTCCGCTTCC	0.323													C|||	2045	0.408347	0.4478	0.3963	5008	,	,		14931	0.4067		0.3022	False		,,,				2504	0.4744				p.A276T		Atlas-SNP	.											TTC29,NS,carcinoma,0,1	TTC29	63	1	1	Substitution - Missense(1)	prostate(1)	c.G826A						scavenged	.	C	THR/ALA	1461,2169		277,907,631	61	59	60		826	5.4	1	4	dbSNP_119	60	2499,5653		385,1729,1962	yes	missense	TTC29	NM_031956.2	58	662,2636,2593	TT,TC,CC		30.6551,40.2479,33.6106	possibly-damaging	276/476	147788709	3960,7822	1815	4076	5891	SO:0001583	missense	83894	exon8			AAGAGGCTTCCGC	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.826G>A	4.37:g.147788709C>T	ENSP00000316740:p.Ala276Thr	Somatic	252	2	0.00793651		WXS	Illumina HiSeq	Phase_I	274	142	0.518248	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	756	0.34615384615384615	187	0.3800813008130081	127	0.35082872928176795	221	0.38636363636363635	221	0.29155672823219	C	18.13	3.554978	0.65425	0.402479	0.306551	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.75777	2.31	0.21675	P	0.999592008	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.80764	0.863;0.994;0.863	T	0.00717	-1.1596	9	0.49607	T	0.09	-12.7436	19.6493	0.95794	0.0:1.0:0.0:0.0	rs10013280;rs17852200;rs52832245;rs59208732;rs10013280	276;302;276	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	T	302;302;276;276;276	ENSP00000423505:A302T;ENSP00000381861:A302T;ENSP00000316740:A276T;ENSP00000425778:A276T	ENSP00000316740:A276T	A	-	1	0	TTC29	148008159	1.000000	0.71417	0.989000	0.46669	0.066000	0.16364	3.914000	0.56401	2.711000	0.92665	0.591000	0.81541	GCC	C|0.648;T|0.352	0.352	strong		0.323	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		T	147788709	C	T	147788709	3	4	22	1	0	0	0	0	1	0	0	0	16693	797	28	2	625	2	TTC29	4	147788709	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1135089	147788709	43365567	2786	7894										
TTC29	83894	hgsc.bcm.edu	37	chr4	147824864	147824864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcatacaagttattatGtacatcttcgaaggattctt	7	7	2	1	rs17610219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:147824864G>A	ENST00000325106.4	-	6	644	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	TTC29_ENST00000513335.1_Missense_Mutation_p.H166Y|TTC29_ENST00000398886.4_Missense_Mutation_p.H166Y	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	140			H -> Y (in dbSNP:rs17610219). {ECO:0000269|Ref.1, ECO:0000269|Ref.2}.							breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGTTATTATGTACATCTTCG	0.388													A|||	2745	0.548123	0.6581	0.5908	5008	,	,		17171	0.5526		0.3598	False		,,,				2504	0.5583				p.H140Y		Atlas-SNP	.											.	TTC29	63	.	0			c.C418T						PASS	.	A	TYR/HIS	2143,1549		631,881,334	51	49	50		418	5.6	0.9	4	dbSNP_123	50	3041,5165		543,1955,1605	yes	missense	TTC29	NM_031956.2	83	1174,2836,1939	AA,AG,GG		37.0583,41.9556,43.5703	benign	140/476	147824864	5184,6714	1846	4103	5949	SO:0001583	missense	83894	exon6			TATTATGTACATC	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.418C>T	4.37:g.147824864G>A	ENSP00000316740:p.His140Tyr	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	1071	0.49038461538461536	317	0.6443089430894309	184	0.5082872928176796	312	0.5454545454545454	258	0.3403693931398417	A	0.010	-1.746363	0.00669	0.580444	0.370583	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.62	5.62	0.85841	.	0.133718	0.52532	N	0.000067	T	0.00012	0.0000	N	0.00052	-2.395	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43245	-0.9403	9	0.02654	T	1	-9.3104	10.4294	0.44398	0.9266:0.0:0.0734:0.0	rs17610219;rs17856717;rs56419348;rs57564073;rs17610219	140;166;140	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	Y	166;166;140;140;140	ENSP00000423505:H166Y;ENSP00000381861:H166Y;ENSP00000316740:H140Y;ENSP00000425778:H140Y	ENSP00000316740:H140Y	H	-	1	0	TTC29	148044314	0.997000	0.39634	0.939000	0.37840	0.040000	0.13550	4.637000	0.61346	0.967000	0.38186	-0.269000	0.10298	CAT	G|0.507;A|0.493	0.493	strong		0.388	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		A	147824864	G	A	147824864	3	1	22	1	0	0	0	0	1	0	0	0	16693	1377	48	2	1041	2	TTC29	4	147824864	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36155	147824864	43329412	2787	7895										
PRMT10	90826	hgsc.bcm.edu	37	chr4	148575601	148575601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctttattctgggtaaaacTttttgcaacatccatttcac	5	9	3	0	rs17023638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:148575601T>C	ENST00000322396.6	-	9	1689	c.1447A>G	c.(1447-1449)Agt>Ggt	p.S483G	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S370G	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		483			S -> G (in dbSNP:rs17023638).			cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TGGGTAAAACTTTTTGCAACA	0.403													T|||	127	0.0253594	0.0938	0.0043	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0				p.S483G		Atlas-SNP	.											.	PRMT10	68	.	0			c.A1447G						PASS	.	T	GLY/SER	301,4105	161.8+/-193.9	10,281,1912	108	108	108		1447	0.4	0.4	4	dbSNP_123	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRMT10	NM_138364.2	56	10,282,6211	CC,CT,TT		0.0116,6.8316,2.322	benign	483/846	148575601	302,12704	2203	4300	6503	SO:0001583	missense	90826	exon9			TAAAACTTTTTGC																												ENST00000322396.6:c.1447A>G	4.37:g.148575601T>C	ENSP00000314396:p.Ser483Gly	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	102	43	0.421569	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	64	0.029304029304029304	64	0.13008130081300814	0	0.0	0	0.0	0	0.0	T	10.31	1.315040	0.23908	0.068316	1.16E-4	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.45668	0.89;0.89	6.04	0.437	0.16555	.	0.391208	0.33792	N	0.004547	T	0.00241	0.0007	L	0.31294	0.92	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.15150	-1.0447	9	0.13853	T	0.58	-20.9041	5.4198	0.16394	0.1195:0.2119:0.0:0.6686	rs17023638;rs17023638	483	Q6P2P2	ANM10_HUMAN	G	483;370	ENSP00000314396:S483G;ENSP00000439508:S370G	ENSP00000314396:S483G	S	-	1	0	PRMT10	148795051	0.002000	0.14202	0.389000	0.26208	0.971000	0.66376	0.093000	0.15086	0.116000	0.18110	0.459000	0.35465	AGT	T|0.963;C|0.037	0.037	strong		0.403	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			C	148575601	T	C	148575601	3	2	22	1	0	0	0	0	1	0	0	0	12536	1609	56	3	1106	3	PRMT10	4	148575601	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	750737	148575601	42578675	2788	7896										
PRMT10	90826	hgsc.bcm.edu	37	chr4	148594177	148594177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagagtttgatccctgcttCcatcttgtttgctgccacga	8	11	1	2	rs73853975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:148594177C>T	ENST00000322396.6	-	4	918	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	PRMT10_ENST00000541232.1_Missense_Mutation_p.E113K	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		226	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATCCCTGCTTCCATCTTGTTT	0.388													C|||	229	0.0457268	0.1702	0.0058	5008	,	,		14532	0.0		0.0	False		,,,				2504	0.0				p.E226K		Atlas-SNP	.											.	PRMT10	68	.	0			c.G676A						PASS	.	C	LYS/GLU	610,3796	267.1+/-267.6	41,528,1634	160	150	154		676	4.6	1	4	dbSNP_130	154	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PRMT10	NM_138364.2	56	41,531,5931	TT,TC,CC		0.0349,13.8448,4.7132	benign	226/846	148594177	613,12393	2203	4300	6503	SO:0001583	missense	90826	exon4			CTGCTTCCATCTT																												ENST00000322396.6:c.676G>A	4.37:g.148594177C>T	ENSP00000314396:p.Glu226Lys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	151	77	0.509934	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	106	0.048534798534798536	105	0.21341463414634146	1	0.0027624309392265192	0	0.0	0	0.0	C	18.24	3.579466	0.65878	0.138448	3.49E-4	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.23348	1.91;1.91	5.44	4.58	0.56647	.	0.210963	0.49305	D	0.000159	T	0.00012	0.0000	L	0.38733	1.17	0.24656	P	0.99349699	B	0.24675	0.109	B	0.30943	0.122	T	0.21211	-1.0252	9	0.41790	T	0.15	-7.5111	10.3867	0.44145	0.0:0.791:0.1363:0.0727	.	226	Q6P2P2	ANM10_HUMAN	K	226;113	ENSP00000314396:E226K;ENSP00000439508:E113K	ENSP00000314396:E226K	E	-	1	0	PRMT10	148813627	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.053000	0.49901	1.242000	0.43836	0.655000	0.94253	GAA	C|0.946;T|0.054	0.054	strong		0.388	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			T	148594177	C	T	148594177	3	4	22	1	0	0	0	0	1	0	0	0	12536	864	30	2	1897	2	PRMT10	4	148594177	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18576	148594177	42560099	2789	7897										
SH3D19	152503	hgsc.bcm.edu	37	chr4	152065197	152065197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagcatcacaagtacatcCccacgctgcaaggtacaata	6	13	2	0	rs3736502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:152065197C>T	ENST00000409252.2	-	12	2024	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	SH3D19_ENST00000514152.1_Silent_p.G416G|SH3D19_ENST00000304527.4_Silent_p.G439G|RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000409598.4_Silent_p.G416G|SH3D19_ENST00000427414.2_Silent_p.G380G|SH3D19_ENST00000424281.1_Silent_p.G380G|SH3D19_ENST00000455740.1_Silent_p.G416G			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	439	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CAAGTACATCCCCACGCTGCA	0.363													C|||	486	0.0970447	0.152	0.0259	5008	,	,		18817	0.1944		0.0249	False		,,,				2504	0.047				p.G439G		Atlas-SNP	.											.	SH3D19	54	.	0			c.G1317A						PASS	.	C	,,	605,3801	262.5+/-264.9	42,521,1640	127	118	121		1317,1248,1140	1.6	1	4	dbSNP_107	121	296,8304	107.6+/-168.3	6,284,4010	no	coding-synonymous,coding-synonymous,coding-synonymous	SH3D19	NM_001009555.3,NM_001128923.1,NM_001128924.1	,,	48,805,5650	TT,TC,CC		3.4419,13.7313,6.9276	,,	439/791,416/768,380/732	152065197	901,12105	2203	4300	6503	SO:0001819	synonymous_variant	152503	exon13			TACATCCCCACGC	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1317G>A	4.37:g.152065197C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	128	64	0.5	NM_001009555	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	CCDS34077.2																																																																																			C|0.913;T|0.087	0.087	strong		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		T	152065197	C	T	152065197	2	4	22	1	0	0	0	0	0	0	0	1	14249	610	22	2		2	SH3D19	4	152065197	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3471020	152065197	39089079	2790	7898										
PET112L	5188	hgsc.bcm.edu	37	chr4	152682046	152682046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatgtggacccagtcggaGcccctcttcggtggcaagaa	14	11	1	1	rs11556167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:152682046G>T	ENST00000515812.1	-	1	105	c.89C>A	c.(88-90)gCt>gAt	p.A30D	PET112_ENST00000508611.1_Missense_Mutation_p.A30D|PET112_ENST00000512306.1_Missense_Mutation_p.A30D|PET112_ENST00000263985.6_Missense_Mutation_p.A30D																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CCCAGTCGGAGCCCCTCTTCG	0.617													G|||	642	0.128195	0.2511	0.0807	5008	,	,		14549	0.122		0.1044	False		,,,				2504	0.0266				p.A30D		Atlas-SNP	.											.	PET112	43	.	0			c.C89A						PASS	.	G	ASP/ALA	1022,3384	378.5+/-322.9	130,762,1311	52	53	53		89	2.3	0	4	dbSNP_120	53	976,7624	211.3+/-251.9	54,868,3378	yes	missense	PET112	NM_004564.2	126	184,1630,4689	TT,TG,GG		11.3488,23.1956,15.3621	benign	30/558	152682046	1998,11008	2203	4300	6503	SO:0001583	missense	5188	exon1			GTCGGAGCCCCTC																												ENST00000515812.1:c.89C>A	4.37:g.152682046G>T	ENSP00000426859:p.Ala30Asp	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	129	62	0.48062	NM_004564		Missense_Mutation	SNP	ENST00000515812.1	37		260	0.11904761904761904	105	0.21341463414634146	24	0.06629834254143646	51	0.08916083916083917	80	0.10554089709762533	G	12.60	1.986626	0.35036	0.231956	0.113488	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.46819	0.88;0.88;0.87;0.86	5.23	2.35	0.29111	.	1.047520	0.07465	N	0.901270	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.27498	0.18;0.18	B;B	0.24701	0.055;0.055	T	0.14811	-1.0459	9	0.72032	D	0.01	-20.7822	6.1248	0.20174	0.3201:0.0:0.6799:0.0	rs11556167;rs52817867;rs58478355;rs11556167	30;30	D6RDU9;O75879	.;GATB_HUMAN	D	30	ENSP00000263985:A30D;ENSP00000426859:A30D;ENSP00000420831:A30D;ENSP00000421105:A30D	ENSP00000263985:A30D	A	-	2	0	PET112	152901496	0.002000	0.14202	0.008000	0.14137	0.650000	0.38633	0.241000	0.18065	0.776000	0.33473	0.650000	0.86243	GCT	G|0.857;T|0.143	0.143	strong		0.617	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			T	152682046	G	T	152682046	3	4	22	1	0	0	0	0	1	0	0	0	11734	971	34	4	1636	4	PET112L	4	152682046	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	616849	152682046	38472230	2791	7899										
MND1	84057	hgsc.bcm.edu	37	chr4	154276856	154276856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagattgctcccaaagagaaAggcattagtaagtaccaaag	9	7	0	2	rs10471075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154276856A>G	ENST00000504860.1	+	2	118	c.75A>G	c.(73-75)aaA>aaG	p.K25K	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000240488.3_Silent_p.K40K					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CCAAAGAGAAAGGCATTAGTA	0.308													A|||	477	0.0952476	0.177	0.0519	5008	,	,		15463	0.0149		0.0328	False		,,,				2504	0.1626				p.K40K		Atlas-SNP	.											.	MND1	18	.	0			c.A120G						PASS	.	A		622,3782	248.4+/-256.2	48,526,1628	54	59	57		120	5.7	1	4	dbSNP_119	57	344,8248	112.3+/-172.5	6,332,3958	no	coding-synonymous	MND1	NM_032117.2		54,858,5586	GG,GA,AA		4.0037,14.1235,7.4331		40/206	154276856	966,12030	2202	4296	6498	SO:0001819	synonymous_variant	84057	exon3			AGAGAAAGGCATT	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.75A>G	4.37:g.154276856A>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_001253861		Silent	SNP	ENST00000504860.1	37																																																																																				A|0.926;G|0.074	0.074	strong		0.308	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		G	154276856	A	G	154276856	2	3	22	1	0	0	0	0	0	0	0	1	9675	69	3	3		3	MND1	4	154276856	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1594810	154276856	36877420	2792	7900										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154478222	154478222	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatacctcttcgtatggagtCctttcctatcatgtgagtaa	7	9	2	1	rs10001845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154478222C>T	ENST00000409663.3	+	6	589	c.537C>T	c.(535-537)gtC>gtT	p.V179V	KIAA0922_ENST00000409959.3_Silent_p.V179V|KIAA0922_ENST00000440693.1_Silent_p.V179V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	179						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGTATGGAGTCCTTTCCTATC	0.348													C|||	2079	0.415136	0.5144	0.4438	5008	,	,		19981	0.5169		0.1998	False		,,,				2504	0.3773				p.V179V		Atlas-SNP	.											.	KIAA0922	214	.	0			c.C537T						PASS	.	C	,	2139,2267	575.9+/-384.1	515,1109,579	79	81	81		537,537	2.5	1	4	dbSNP_119	81	1892,6708	334.0+/-320.8	206,1480,2614	no	coding-synonymous,coding-synonymous	KIAA0922	NM_001131007.1,NM_015196.3	,	721,2589,3193	TT,TC,CC		22.0,48.5474,30.9934	,	179/1611,179/1610	154478222	4031,8975	2203	4300	6503	SO:0001819	synonymous_variant	23240	exon6			TGGAGTCCTTTCC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.537C>T	4.37:g.154478222C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	152	53	0.348684	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																			C|0.657;T|0.343	0.343	strong		0.348	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		T	154478222	C	T	154478222	2	4	22	1	0	0	0	0	0	0	0	1	8201	842	30	2		2	KIAA0922	4	154478222	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201366	154478222	36676054	2793	7901										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154504741	154504741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgccatttctcacagagagAtgctctgtctctgcagtttg	9	11	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154504741A>G	ENST00000409663.3	+	11	1029	c.977A>G	c.(976-978)gAt>gGt	p.D326G	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D326G|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D326G	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	326						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCACAGAGAGATGCTCTGTCT	0.373																																					p.D326G		Atlas-SNP	.											KIAA0922,colon,carcinoma,+1,1	KIAA0922	214	1	0			c.A977G						scavenged	.						115	114	114					4																	154504741		2203	4300	6503	SO:0001583	missense	23240	exon11			AGAGAGATGCTCT	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.977A>G	4.37:g.154504741A>G	ENSP00000386574:p.Asp326Gly	Somatic	457	1	0.00218818		WXS	Illumina HiSeq	Phase_I	481	5	0.010395	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	9.195	1.026899	0.19512	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.20069	2.33;2.1;2.34;2.1	5.78	3.3	0.37823	.	0.551000	0.21224	N	0.078088	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	1	B;B;B	0.14805	0.005;0.008;0.011	B;B;B	0.16289	0.004;0.014;0.015	T	0.21449	-1.0245	10	0.45353	T	0.12	-1.261	5.5611	0.17144	0.7067:0.1461:0.1472:0.0	.	326;326;326	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	G	326;326;326;187	ENSP00000386574:D326G;ENSP00000409663:D326G;ENSP00000386787:D326G;ENSP00000240487:D187G	ENSP00000240487:D187G	D	+	2	0	KIAA0922	154724191	0.156000	0.22821	0.006000	0.13384	0.912000	0.54170	1.713000	0.37951	0.444000	0.26612	0.533000	0.62120	GAT	.	.	none		0.373	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		G	154504741	A	G	154504741	3	3	22	1	0	0	0	0	1	0	0	0	8201	333	12	2	1019	2	KIAA0922	4	154504741	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26519	154504741	36649535	2794	7902										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154523373	154523373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagaatattggacctcttcCtataactgtttcgtctctga	7	9	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154523373C>T	ENST00000409663.3	+	22	2385	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P779L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P695L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	778						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACCTCTTCCTATAACTGTT	0.353																																					p.P779L		Atlas-SNP	.											KIAA0922_ENST00000409959,NS,malignant_melanoma,0,2	KIAA0922	214	2	0			c.C2336T						scavenged	.						95	97	97					4																	154523373		2203	4300	6503	SO:0001583	missense	23240	exon22			CTCTTCCTATAAC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2333C>T	4.37:g.154523373C>T	ENSP00000386574:p.Pro778Leu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277864	0.80692	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.26067	2.01;1.76;2.0;1.77	5.81	4.94	0.65067	.	0.103125	0.64402	D	0.000002	T	0.55561	0.1928	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.982	D;D;P	0.68621	0.925;0.959;0.798	T	0.64786	-0.6325	10	0.72032	D	0.01	-9.503	16.5544	0.84482	0.0:0.8693:0.1307:0.0	.	695;779;778	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	778;695;779;556	ENSP00000386574:P778L;ENSP00000409663:P695L;ENSP00000386787:P779L;ENSP00000240487:P556L	ENSP00000240487:P556L	P	+	2	0	KIAA0922	154742823	1.000000	0.71417	0.895000	0.35142	0.804000	0.45430	5.641000	0.67881	1.384000	0.46424	0.655000	0.94253	CCT	.	.	none		0.353	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		T	154523373	C	T	154523373	3	4	22	1	0	0	0	0	1	0	0	0	8201	681	24	2	2422	2	KIAA0922	4	154523373	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18632	154523373	36630903	2795	7903										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154525446	154525446	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaactgacattaaaacttcAgagaacacagccgagttcaa	7	9	2	2	rs17030219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154525446A>C	ENST00000409663.3	+	25	3331	c.3279A>C	c.(3277-3279)tcA>tcC	p.S1093S	KIAA0922_ENST00000409959.3_Silent_p.S1094S|KIAA0922_ENST00000440693.1_Silent_p.S1010S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1093						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTAAAACTTCAGAGAACACAG	0.408													A|||	52	0.0103834	0.0378	0.0014	5008	,	,		19441	0.0		0.001	False		,,,				2504	0.0				p.S1094S		Atlas-SNP	.											.	KIAA0922	214	.	0			c.A3282C						PASS	.	A	,	171,4235	111.6+/-149.8	2,167,2034	51	52	52		3282,3279	1.9	0.5	4	dbSNP_123	52	1,8599		0,1,4299	yes	coding-synonymous,coding-synonymous	KIAA0922	NM_001131007.1,NM_015196.3	,	2,168,6333	CC,CA,AA		0.0116,3.8811,1.3225	,	1094/1611,1093/1610	154525446	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	23240	exon25			AACTTCAGAGAAC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3279A>C	4.37:g.154525446A>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	134	75	0.559702	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																			A|0.987;C|0.013	0.013	strong		0.408	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		C	154525446	A	C	154525446	2	2	22	1	0	0	0	0	0	0	0	1	8201	175	7	5		5	KIAA0922	4	154525446	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2073	154525446	36628830	2796	7904										
SFRP2	6423	hgsc.bcm.edu	37	chr4	154709854	154709854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggcacagctgcaggttgGcagggatgggcttgcaattg	17	8	0	0	rs386680891|rs4643790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:154709854G>A	ENST00000274063.4	-	1	418	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	45	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		A -> V (in dbSNP:rs4643790). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCAGGTTGGCAGGGATGGG	0.647													G|||	748	0.149361	0.2784	0.1066	5008	,	,		15766	0.005		0.1879	False		,,,				2504	0.1145				p.A45V		Atlas-SNP	.											SFRP2,NS,carcinoma,-1,1	SFRP2	45	1	0			c.C134T						PASS	.	G	VAL/ALA	1167,3239	379.9+/-323.5	147,873,1183	57	62	60		134	4.6	1	4	dbSNP_111	60	1580,7020	267.1+/-287.1	152,1276,2872	yes	missense	SFRP2	NM_003013.2	64	299,2149,4055	AA,AG,GG		18.3721,26.4866,21.121	possibly-damaging	45/296	154709854	2747,10259	2203	4300	6503	SO:0001583	missense	6423	exon1			AGGTTGGCAGGGA	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.134C>T	4.37:g.154709854G>A	ENSP00000274063:p.Ala45Val	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	112	46	0.410714	NM_003013	B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	340	0.15567765567765568	150	0.3048780487804878	46	0.1270718232044199	3	0.005244755244755245	141	0.18601583113456466	G	14.96	2.692402	0.48202	0.264866	0.183721	ENSG00000145423	ENST00000274063	T	0.72167	-0.63	4.63	4.63	0.57726	Frizzled domain (5);	0.049068	0.85682	D	0.000000	T	0.00012	0.0000	N	0.25201	0.72	0.09310	P	0.999999385125	B	0.15473	0.013	B	0.22152	0.038	T	0.05178	-1.0901	9	0.25751	T	0.34	.	17.8889	0.88865	0.0:0.0:1.0:0.0	rs4643790;rs17850362;rs4643790	45	Q96HF1	SFRP2_HUMAN	V	45	ENSP00000274063:A45V	ENSP00000274063:A45V	A	-	2	0	SFRP2	154929304	1.000000	0.71417	0.989000	0.46669	0.955000	0.61496	5.407000	0.66363	2.288000	0.76882	0.650000	0.86243	GCC	G|0.806;A|0.194	0.194	strong		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			A	154709854	G	A	154709854	3	1	22	1	0	0	0	0	1	0	0	0	14162	1203	42	2	765	2	SFRP2	4	154709854	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	184408	154709854	36444422	2797	7905										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155156875	155156875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagaggagaaagacacatTcacaaaaacagtgcaagatg	9	7	2	4	rs61746101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155156875T>G	ENST00000357232.4	-	25	7563	c.7564A>C	c.(7564-7566)Aat>Cat	p.N2522H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2522	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGACACATTCACAAAAACA	0.408													T|||	214	0.0427316	0.1558	0.0086	5008	,	,		18956	0.0		0.002	False		,,,				2504	0.0				p.N2522H		Atlas-SNP	.											.	DCHS2	594	.	0			c.A7564C						PASS	.	T	HIS/ASN	567,3839	253.0+/-259.1	26,515,1662	81	82	82		7564	5.7	1	4	dbSNP_129	82	9,8591	6.4+/-24.3	0,9,4291	yes	missense	DCHS2	NM_017639.3	68	26,524,5953	GG,GT,TT		0.1047,12.8688,4.4287	probably-damaging	2522/2917	155156875	576,12430	2203	4300	6503	SO:0001583	missense	54798	exon25			ACACATTCACAAA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7564A>C	4.37:g.155156875T>G	ENSP00000349768:p.Asn2522His	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	72	0.03296703296703297	71	0.1443089430894309	1	0.0027624309392265192	0	0.0	0	0.0	T	18.70	3.680330	0.68042	0.128688	0.001047	ENSG00000197410	ENST00000357232	T	0.60672	0.17	5.71	5.71	0.89125	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.01320	0.0043	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.04495	-1.0947	10	0.56958	D	0.05	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2522	Q6V1P9	PCD23_HUMAN	H	2522	ENSP00000349768:N2522H	ENSP00000349768:N2522H	N	-	1	0	DCHS2	155376325	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.229000	0.58625	2.176000	0.68965	0.383000	0.25322	AAT	T|0.959;G|0.041	0.041	strong		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155156875	T	G	155156875	3	3	22	1	0	0	0	0	1	0	0	0	4288	1783	62	5	1190	5	DCHS2	4	155156875	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	447021	155156875	35997401	2798	7906										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155158104	155158104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttgaaaatgtaacaagcGtgcttccaaccagagcatcc	8	10	0	2	rs17031279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155158104G>A	ENST00000357232.4	-	25	6334	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2112	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.		T -> M (in dbSNP:rs17031279).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTAACAAGCGTGCTTCCAAC	0.383													G|||	106	0.0211661	0.0749	0.0058	5008	,	,		22095	0.0		0.002	False		,,,				2504	0.001				p.T2112M		Atlas-SNP	.											.	DCHS2	594	.	0			c.C6335T						PASS	.	G	MET/THR	258,4148	149.2+/-183.4	6,246,1951	158	152	154		6335	4.1	0.1	4	dbSNP_123	154	5,8595	4.3+/-15.6	0,5,4295	yes	missense	DCHS2	NM_017639.3	81	6,251,6246	AA,AG,GG		0.0581,5.8557,2.0221	probably-damaging	2112/2917	155158104	263,12743	2203	4300	6503	SO:0001583	missense	54798	exon25			ACAAGCGTGCTTC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6335C>T	4.37:g.155158104G>A	ENSP00000349768:p.Thr2112Met	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	178	90	0.505618	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	26	0.011904761904761904	26	0.052845528455284556	0	0.0	0	0.0	0	0.0	G	10.93	1.488688	0.26686	0.058557	5.81E-4	ENSG00000197410	ENST00000357232	T	0.52754	0.65	5.82	4.09	0.47781	Cadherin (3);Cadherin-like (1);	0.347781	0.26669	N	0.023120	T	0.14614	0.0353	M	0.76002	2.32	0.30495	N	0.770966	D	0.89917	1.0	D	0.66847	0.947	T	0.47995	-0.9073	10	0.42905	T	0.14	.	4.1039	0.10028	0.147:0.1359:0.5918:0.1253	rs17031279;rs52827899;rs17031279	2112	Q6V1P9	PCD23_HUMAN	M	2112	ENSP00000349768:T2112M	ENSP00000349768:T2112M	T	-	2	0	DCHS2	155377554	0.994000	0.37717	0.138000	0.22173	0.167000	0.22549	2.937000	0.48979	1.459000	0.47892	0.557000	0.71058	ACG	G|0.979;A|0.021	0.021	strong		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155158104	G	A	155158104	3	1	22	1	0	0	0	0	1	0	0	0	4288	1145	40	1	2419	1	DCHS2	4	155158104	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1229	155158104	35996172	2799	7907										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155158259	155158260	+	In_Frame_Ins	INS	-	-	GTT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcttccacaagaaattgaINSgttgttgatattgtatccag					rs138652483|rs376550327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155158259_155158260insGTT	ENST00000357232.4	-	25	6178_6179	c.6179_6180insAAC	c.(6178-6180)act>acAACt	p.2060_2060T>TT		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2060	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGAAATTGAGTTGTTGATAT	0.376														103	0.0205671	0.0734	0.0058	5008	,	,		19389	0.0		0.002	False		,,,				2504	0.0				p.T2060delinsTT		Pindel,Atlas-Indel	.											.	DCHS2	594	.	0			c.6180_6181insAAC						PASS	.			254,4010		7,240,1885						3.4	0.1		dbSNP_134	82	6,8246		0,6,4120	no	coding	DCHS2	NM_017639.3		7,246,6005	A1A1,A1R,RR		0.0727,5.9568,2.0773				260,12256				SO:0001652	inframe_insertion	54798	exon25			.	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6177_6179dupAAC	4.37:g.155158263_155158265dupGTT	ENSP00000349768:p.Thr2060dup	Somatic	140	.	.		WXS	Illumina HiSeq	Phase_I	126	40	0.317	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	In_Frame_Ins	INS	ENST00000357232.4	37	CCDS3785.1																																																																																			-|0.988;GTT|0.012	0.012	strong		0.376	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		GTT	155158260	-	GTT	155158259	7	5	22	1	0	1	1	0	0	0	0	0	4288	291	11	0	2574	0	DCHS2	4	155158259	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	155	155158259	35996017	2800	7908										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155219318	155219318	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctggtttgtaggcgactCgggggaaagaaacacatcaa	13	7	2	1	rs28561984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155219318C>G	ENST00000357232.4	-	18	4782	c.4783G>C	c.(4783-4785)Gag>Cag	p.E1595Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1595	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> Q (in dbSNP:rs28561984).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAGGCGACTCGGGGGAAAGA	0.428													G|||	406	0.0810703	0.261	0.0418	5008	,	,		19868	0.0109		0.0179	False		,,,				2504	0.0031				p.E1595Q		Atlas-SNP	.											.	DCHS2	594	.	0			c.G4783C						PASS	.						89	90	89					4																	155219318		2203	4300	6503	SO:0001583	missense	54798	exon18			GCGACTCGGGGGA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4783G>C	4.37:g.155219318C>G	ENSP00000349768:p.Glu1595Gln	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	206	94	0.456311	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	173	0.07921245421245421	142	0.2886178861788618	11	0.03038674033149171	6	0.01048951048951049	14	0.018469656992084433	G	0.003	-2.426918	0.00186	.	.	ENSG00000197410	ENST00000357232	T	0.61627	0.09	5.66	0.139	0.14798	Cadherin (2);Cadherin-like (1);	0.917277	0.09327	N	0.817476	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	9	0.10377	T	0.69	.	3.0954	0.06308	0.1424:0.376:0.2865:0.1951	rs28561984	1595	Q6V1P9	PCD23_HUMAN	Q	1595	ENSP00000349768:E1595Q	ENSP00000349768:E1595Q	E	-	1	0	DCHS2	155438768	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.438000	0.21559	-0.142000	0.11354	-0.127000	0.14921	GAG	C|0.867;G|0.027;T|0.106	0.027	strong		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155219318	C	G	155219318	3	3	22	1	0	0	0	0	1	0	0	0	4288	893	31	4	3999	4	DCHS2	4	155219318	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61059	155219318	35934958	2801	7909										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155219373	155219373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaactggatcattgtcattAacatcagtgacatatacttt	5	7	3	1	rs17031391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155219373A>G	ENST00000357232.4	-	18	4727	c.4728T>C	c.(4726-4728)gtT>gtC	p.V1576V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1576	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATTGTCATTAACATCAGTGA	0.438													A|||	405	0.0808706	0.2602	0.0418	5008	,	,		19929	0.0109		0.0179	False		,,,				2504	0.0031				p.V1576V		Atlas-SNP	.											.	DCHS2	594	.	0			c.T4728C						PASS	.	A		945,3461	361.4+/-315.7	116,713,1374	103	102	102		4728	-1.4	1	4	dbSNP_123	102	148,8452	72.6+/-135.2	3,142,4155	no	coding-synonymous	DCHS2	NM_017639.3		119,855,5529	GG,GA,AA		1.7209,21.448,8.4038		1576/2917	155219373	1093,11913	2203	4300	6503	SO:0001819	synonymous_variant	54798	exon18			GTCATTAACATCA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4728T>C	4.37:g.155219373A>G		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	214	98	0.457944	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																			A|0.913;G|0.087	0.087	strong		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155219373	A	G	155219373	2	3	22	1	0	0	0	0	0	0	0	1	4288	349	13	2		2	DCHS2	4	155219373	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55	155219373	35934903	2802	7910										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155407595	155407595	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtattatcttacaggaaatCtaggcaagattttgtttttc	8	5	2	1	rs140554741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155407595C>A	ENST00000456341.2	-	2	2108	c.2109G>T	c.(2107-2109)taG>taT	p.*703Y	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000443500.1_Nonstop_Mutation_p.*710Y			Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.*710Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACAGGAAATCTAGGCAAGAT	0.353													C|||	93	0.0185703	0.0008	0.0086	5008	,	,		21542	0.001		0.0298	False		,,,				2504	0.0562				p.X710Y		Atlas-SNP	.											DCHS2_ENST00000443500,NS,carcinoma,0,1	DCHS2	594	1	1	Nonstop extension(1)	kidney(1)	c.G2130T						PASS	.						268	215	231					4																	155407595		692	1591	2283	SO:0001578	stop_lost	54798	exon2			GGAAATCTAGGCA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000456341.2:c.2109G>T	4.37:g.155407595C>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	97	36	0.371134	NM_001142553	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000456341.2	37		24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	C	13.13	2.144810	0.37825	.	.	ENSG00000197410	ENST00000456341;ENST00000443500	.	.	.	2.87	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6935	0.05127	0.3797:0.2807:0.0:0.3396	.	.	.	.	Y	703;710	.	.	X	-	3	2	DCHS2	155627045	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	-0.749000	0.04813	-0.726000	0.04895	0.561000	0.74099	TAG	C|0.989;A|0.011	0.011	strong		0.353	DCHS2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000365285.1	NM_001142552		A	155407595	C	A	155407595	4	1	22	1	0	0	0	0	0	0	0	0	4288	927	32	4	8950	4	DCHS2	4	155407595	Nonstop_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	188222	155407595	35746681	2803	7911										
LRAT	9227	hgsc.bcm.edu	37	chr4	155665820	155665820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccgcgtggacacagtggaGgacttcgcctacggagctaa	13	11	0	0	rs17031981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155665820G>A	ENST00000336356.3	+	2	595	c.342G>A	c.(340-342)gaG>gaA	p.E114E	LRAT_ENST00000507827.1_Silent_p.E114E	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	114					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	ACACAGTGGAGGACTTCGCCT	0.582													G|||	484	0.0966454	0.3404	0.0274	5008	,	,		17535	0.0109		0.001	False		,,,				2504	0.0031				p.E114E		Atlas-SNP	.											.	LRAT	29	.	0			c.G342A						PASS	.	G		1395,3011	459.4+/-352.3	215,965,1023	65	66	66		342	3.8	1	4	dbSNP_123	66	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous	LRAT	NM_004744.3		215,989,5299	AA,AG,GG		0.2791,31.6614,10.9103		114/231	155665820	1419,11587	2203	4300	6503	SO:0001819	synonymous_variant	9227	exon2			AGTGGAGGACTTC	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.342G>A	4.37:g.155665820G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_004744	A8K983|Q8N716	Silent	SNP	ENST00000336356.3	37	CCDS3789.1																																																																																			G|0.910;A|0.090	0.090	strong		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		A	155665820	G	A	155665820	2	1	22	1	0	0	0	0	0	0	0	1	8930	991	35	2		2	LRAT	4	155665820	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	258225	155665820	35488456	2804	7912										
RBM46	166863	hgsc.bcm.edu	37	chr4	155720349	155720349	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacccaaaaactctaggCaagctgccaactcttcctgc	6	16	2	0	rs12651031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:155720349C>A	ENST00000281722.3	+	4	1270	c.1035C>A	c.(1033-1035)ggC>ggA	p.G345G	RBM46_ENST00000510397.1_Silent_p.G345G|RBM46_ENST00000514866.1_Silent_p.G345G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	345							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAACTCTAGGCAAGCTGCCAA	0.428													C|||	693	0.138379	0.3041	0.0476	5008	,	,		18198	0.1736		0.0338	False		,,,				2504	0.0501				p.G345G		Atlas-SNP	.											.	RBM46	76	.	0			c.C1035A						PASS	.	C		1211,3195	411.9+/-335.9	165,881,1157	76	80	79		1035	1.3	1	4	dbSNP_120	79	221,8379	91.6+/-153.7	2,217,4081	no	coding-synonymous	RBM46	NM_144979.3		167,1098,5238	AA,AC,CC		2.5698,27.4852,11.0103		345/534	155720349	1432,11574	2203	4300	6503	SO:0001819	synonymous_variant	166863	exon4			TCTAGGCAAGCTG	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1035C>A	4.37:g.155720349C>A		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	266	143	0.537594	NM_144979	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																			C|0.880;A|0.120	0.120	strong		0.428	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		A	155720349	C	A	155720349	2	1	22	1	0	0	0	0	0	0	0	1	13140	697	25	4		4	RBM46	4	155720349	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54529	155720349	35433927	2805	7913										
NPY2R	4887	hgsc.bcm.edu	37	chr4	156135250	156135250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaggtacaagttgttctCatattggcctactgctccat	8	9	1	1	rs2342674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:156135250C>T	ENST00000329476.3	+	2	648	c.159C>T	c.(157-159)ctC>ctT	p.L53L	NPY2R_ENST00000506608.1_Silent_p.L53L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	53					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AAGTTGTTCTCATATTGGCCT	0.468													C|||	144	0.028754	0.1067	0.0043	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0				p.L53L		Atlas-SNP	.											.	NPY2R	87	.	0			c.C159T						PASS	.	C		400,4006	199.1+/-222.7	17,366,1820	213	198	203		159	1.6	0.9	4	dbSNP_100	203	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NPY2R	NM_000910.2		17,368,6118	TT,TC,CC		0.0233,9.0785,3.0909		53/382	156135250	402,12604	2203	4300	6503	SO:0001819	synonymous_variant	4887	exon2			TGTTCTCATATTG	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.159C>T	4.37:g.156135250C>T		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	272	133	0.488971	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	CCDS3791.1																																																																																			C|0.967;T|0.033	0.033	strong		0.468	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		T	156135250	C	T	156135250	2	4	22	1	0	0	0	0	0	0	0	1	10609	813	29	2		2	NPY2R	4	156135250	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	414901	156135250	35019026	2806	7914										
MAP9	79884	hgsc.bcm.edu	37	chr4	156274377	156274377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattttcttcttcagttttcTtcttgtttttttcttcaagc	3	9	7	0	rs1058992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:156274377T>C	ENST00000311277.4	-	11	1759	c.1496A>G	c.(1495-1497)aAg>aGg	p.K499R	AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609716.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K475R|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000598252.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	499			K -> R (in dbSNP:rs1058992).		cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.K499R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTCAGTTTTCTTCTTGTTTTT	0.333													T|||	2048	0.408946	0.6104	0.3228	5008	,	,		14025	0.5863		0.2247	False		,,,				2504	0.2045				p.K499R		Atlas-SNP	.											MAP9,NS,carcinoma,0,1	MAP9	79	1	1	Substitution - Missense(1)	prostate(1)	c.A1496G						scavenged	.	T	ARG/LYS	2319,2085	603.3+/-390.1	631,1057,514	108	104	106		1496	4.1	1	4	dbSNP_86	106	1857,6739	332.3+/-320.0	193,1471,2634	yes	missense	MAP9	NM_001039580.1	26	824,2528,3148	CC,CT,TT		21.6031,47.3433,32.1231	probably-damaging	499/648	156274377	4176,8824	2202	4298	6500	SO:0001583	missense	79884	exon11			GTTTTCTTCTTGT	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1496A>G	4.37:g.156274377T>C	ENSP00000310593:p.Lys499Arg	Somatic	241	2	0.00829876		WXS	Illumina HiSeq	Phase_I	231	108	0.467532	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	921	0.4217032967032967	307	0.6239837398373984	104	0.287292817679558	329	0.5751748251748252	181	0.23878627968337732	T	10.92	1.487296	0.26686	0.526567	0.216031	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.09445	2.98;2.98	5.23	4.05	0.47172	.	0.402707	0.28700	N	0.014428	T	0.00012	0.0000	M	0.69823	2.125	0.09310	P	0.9999999999743422	B;B;B	0.32203	0.169;0.36;0.169	B;B;B	0.32022	0.091;0.139;0.091	T	0.19321	-1.0309	9	0.19147	T	0.46	-13.891	8.6845	0.34229	0.0:0.0879:0.0:0.9121	rs17357030	474;499;499	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	R	499;475	ENSP00000310593:K499R;ENSP00000427402:K475R	ENSP00000310593:K499R	K	-	2	0	MAP9	156493827	0.914000	0.31030	1.000000	0.80357	0.991000	0.79684	0.012000	0.13287	0.930000	0.37217	0.533000	0.62120	AAG	T|0.652;C|0.348	0.348	strong		0.333	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		C	156274377	T	C	156274377	3	2	22	1	0	0	0	0	1	0	0	0	9270	1609	56	3	463	3	MAP9	4	156274377	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139127	156274377	34879899	2807	7915										
C4orf45	152940	hgsc.bcm.edu	37	chr4	159894277	159894277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatttgttgataaaattaTactgtggtattctccaacca	6	6	1	2	rs17037858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:159894277T>C	ENST00000434826.2	-	2	335	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	84			Y -> C (in dbSNP:rs17037858).							large_intestine(2)|lung(3)	5						GATAAAATTATACTGTGGTAT	0.353													T|||	414	0.0826677	0.0825	0.0274	5008	,	,		17528	0.2202		0.0338	False		,,,				2504	0.0307				p.Y84C		Atlas-SNP	.											.	C4orf45	8	.	0			c.A251G						PASS	.	T	CYS/TYR	219,3417		8,203,1607	87	75	78		251	1.6	0.1	4	dbSNP_123	78	256,7904		2,252,3826	yes	missense	C4orf45	NM_152543.2	194	10,455,5433	CC,CT,TT		3.1373,6.0231,4.0268	probably-damaging	84/187	159894277	475,11321	1818	4080	5898	SO:0001583	missense	152940	exon2			AAATTATACTGTG		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.251A>G	4.37:g.159894277T>C	ENSP00000412215:p.Tyr84Cys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	124	59	0.475806	NM_152543	A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	CCDS47156.1	219	0.10027472527472528	57	0.11585365853658537	13	0.03591160220994475	127	0.22202797202797203	22	0.029023746701846966	T	8.180	0.793630	0.16327	0.060231	0.031373	ENSG00000164123	ENST00000434826	T	0.17370	2.28	5.69	1.65	0.23941	.	0.404294	0.21670	N	0.070893	T	0.00012	0.0000	M	0.73962	2.25	0.80722	P	0.0	B	0.16802	0.019	B	0.16289	0.015	T	0.20240	-1.0281	8	.	.	.	-8.8034	3.2754	0.06897	0.2095:0.191:0.0:0.5994	rs17037858;rs17037858	84	Q96LM5	CD045_HUMAN	C	84	ENSP00000412215:Y84C	.	Y	-	2	0	C4orf45	160113727	0.000000	0.05858	0.127000	0.21898	0.731000	0.41821	-0.406000	0.07187	0.431000	0.26258	0.533000	0.62120	TAT	T|0.903;C|0.097	0.097	strong		0.353	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		C	159894277	T	C	159894277	3	2	22	1	0	0	0	0	1	0	0	0	2273	1406	49	2	325	2	C4orf45	4	159894277	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3619900	159894277	31259999	2808	7916										
RAPGEF2	9693	hgsc.bcm.edu	37	chr4	160273927	160273927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccagtattgttagcaattCgtcttttgactcagtgccag	8	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:160273927C>T	ENST00000264431.4	+	21	3892	c.3473C>T	c.(3472-3474)tCg>tTg	p.S1158L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1158	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S1146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTAGCAATTCGTCTTTTGAC	0.478																																					p.S1158L		Atlas-SNP	.											RAPGEF2,NS,carcinoma,0,2	RAPGEF2	171	2	1	Substitution - Missense(1)	large_intestine(1)	c.C3473T						scavenged	.						123	117	119					4																	160273927		1935	4134	6069	SO:0001583	missense	9693	exon21			GCAATTCGTCTTT	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3473C>T	4.37:g.160273927C>T	ENSP00000264431:p.Ser1158Leu	Somatic	211	2	0.00947867		WXS	Illumina HiSeq	Phase_I	211	3	0.014218	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191721|4.191721	0.78902|0.78902	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.43294	.|0.95	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40619|0.40619	0.1124|0.1124	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B	.|0.31290	.|0.318	.|B	.|0.26969	.|0.075	T|T	0.21245|0.21245	-1.0251|-1.0251	5|10	.|0.48119	.|T	.|0.1	.|.	19.9832|19.9832	0.97338|0.97338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1158	.|Q9Y4G8	.|RPGF2_HUMAN	C|L	215|1158	.|ENSP00000264431:S1158L	.|ENSP00000264431:S1158L	R|S	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160493377|160493377	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	5.675000|5.675000	0.68123|0.68123	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	CGT|TCG	.	.	none		0.478	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		T	160273927	C	T	160273927	3	4	22	1	0	0	0	0	1	0	0	0	13044	893	31	1	3555	1	RAPGEF2	4	160273927	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	379650	160273927	30880349	2809	7917										
NAF1	92345	hgsc.bcm.edu	37	chr4	164087753	164087753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcaaacgactgtagcgGcggctgtgtccctggcacag	12	15	1	0	rs12331663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:164087753G>A	ENST00000274054.2	-	1	320	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	NAF1_ENST00000422287.2_Missense_Mutation_p.P43S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	43			P -> S (in dbSNP:rs12331663).		pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GACTGTAGCGGCGGCTGTGTC	0.657													G|||	148	0.0295527	0.1104	0.0029	5008	,	,		11685	0.0		0.0	False		,,,				2504	0.0				p.P43S		Atlas-SNP	.											.	NAF1	69	.	0			c.C127T						PASS	.	G	SER/PRO,SER/PRO	409,3655		27,355,1650	8	12	11		127,127	0.6	0	4	dbSNP_120	11	7,8217		0,7,4105	yes	missense,missense	NAF1	NM_001128931.1,NM_138386.2	74,74	27,362,5755	AA,AG,GG		0.0851,10.064,3.3854	benign,benign	43/390,43/495	164087753	416,11872	2032	4112	6144	SO:0001583	missense	92345	exon1			GTAGCGGCGGCTG		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.127C>T	4.37:g.164087753G>A	ENSP00000274054:p.Pro43Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	90	49	0.544444	NM_138386	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	58	0.026556776556776556	56	0.11382113821138211	2	0.0055248618784530384	0	0.0	0	0.0	G	9.310	1.055342	0.19907	0.10064	8.51E-4	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.31510	1.49;1.51	2.42	0.648	0.17801	.	0.570177	0.14188	N	0.335578	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B;B	0.31655	0.0;0.334	B;B	0.18561	0.0;0.022	T	0.21484	-1.0244	10	0.07644	T	0.81	-0.4303	4.7772	0.13185	0.3241:0.0:0.6759:0.0	rs12331663;rs52833318;rs12331663	43;43	E9PAZ2;Q96HR8	.;NAF1_HUMAN	S	43	ENSP00000408963:P43S;ENSP00000274054:P43S	ENSP00000274054:P43S	P	-	1	0	NAF1	164307203	0.000000	0.05858	0.010000	0.14722	0.377000	0.30045	-0.380000	0.07427	0.135000	0.18707	-0.680000	0.03767	CCG	G|0.963;A|0.037	0.037	strong		0.657	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		A	164087753	G	A	164087753	3	1	22	1	0	0	0	0	1	0	0	0	10140	1203	42	2	1530	2	NAF1	4	164087753	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3813826	164087753	27066523	2810	7918										
KLHL2	11275	hgsc.bcm.edu	37	chr4	166149999	166149999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacaattgtggcagaagacAtggaaatttctgctcataga	9	7	3	3	rs80341433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:166149999A>G	ENST00000226725.6	+	3	452	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	KLHL2_ENST00000421009.2_Silent_p.T8T|KLHL2_ENST00000514860.1_Missense_Mutation_p.M69V|KLHL2_ENST00000538127.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGCAGAAGACATGGAAATTTC	0.348													A|||	32	0.00638978	0.0234	0.0014	5008	,	,		20934	0.0		0.0	False		,,,				2504	0.0				p.M69V		Atlas-SNP	.											.	KLHL2	42	.	0			c.A205G						PASS	.	A	VAL/MET,,VAL/MET	77,4329	65.3+/-102.7	1,75,2127	68	65	66		205,,193	4.2	1	4	dbSNP_131	66	1,8599		0,1,4299	no	missense,intron,missense	KLHL2	NM_001161521.1,NM_001161522.1,NM_007246.3	21,,21	1,76,6426	GG,GA,AA		0.0116,1.7476,0.5997	benign,,benign	69/598,,65/594	166149999	78,12928	2203	4300	6503	SO:0001583	missense	11275	exon3			GAAGACATGGAAA	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.193A>G	4.37:g.166149999A>G	ENSP00000226725:p.Met65Val	Somatic	736	0	0		WXS	Illumina HiSeq	Phase_I	576	285	0.494792	NM_001161521	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	A	8.320	0.824018	0.16678	0.017476	1.16E-4	ENSG00000109466	ENST00000226725;ENST00000511305;ENST00000509704;ENST00000514860	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.16	4.16	0.48862	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.104953	0.64402	D	0.000003	T	0.10121	0.0248	N	0.00157	-1.96	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.10847	-1.0612	10	0.13470	T	0.59	.	8.1516	0.31143	0.9087:0.0:0.0913:0.0	.	69;65	B4DFH7;O95198	.;KLHL2_HUMAN	V	65;105;27;69	ENSP00000226725:M65V;ENSP00000422113:M105V;ENSP00000421324:M27V;ENSP00000424198:M69V	ENSP00000226725:M65V	M	+	1	0	KLHL2	166369449	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.885000	0.63142	1.750000	0.51863	0.383000	0.25322	ATG	A|0.994;G|0.006	0.006	strong		0.348	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			G	166149999	A	G	166149999	3	3	22	1	0	0	0	0	1	0	0	0	8374	217	8	2	245	2	KLHL2	4	166149999	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2062246	166149999	25004277	2811	7919										
DDX60L	91351	hgsc.bcm.edu	37	chr4	169342926	169342926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actacctttgcgggtgcaacGtacacaaccaccccgacatc	7	16	0	0	rs73863330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169342926G>A	ENST00000511577.1	-	17	2626	c.2379C>T	c.(2377-2379)taC>taT	p.Y793Y	DDX60L_ENST00000505890.1_Silent_p.Y793Y|DDX60L_ENST00000260184.7_Silent_p.Y793Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	793	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGGGTGCAACGTACACAACCA	0.468													g|||	24	0.00479233	0.0182	0.0	5008	,	,		23719	0.0		0.0	False		,,,				2504	0.0				p.Y793Y		Atlas-SNP	.											DDX60L,NS,carcinoma,-1,1	DDX60L	116	1	0			c.C2379T						PASS	.	A		61,4345	57.4+/-93.9	0,61,2142	225	226	226		2379	1.4	0	4	dbSNP_130	226	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous	DDX60L	NM_001012967.1		0,72,6431	AA,AG,GG		0.1279,1.3845,0.5536		793/1707	169342926	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	91351	exon17			TGCAACGTACACA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2379C>T	4.37:g.169342926G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	106	62	0.584906	NM_001012967	Q96ND6	Silent	SNP	ENST00000511577.1	37																																																																																				G|0.994;A|0.006	0.006	strong		0.468	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		A	169342926	G	A	169342926	2	1	22	1	0	0	0	0	0	0	0	1	4379	1140	40	1		1	DDX60L	4	169342926	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3192927	169342926	21811350	2812	7920										
DDX60L	91351	hgsc.bcm.edu	37	chr4	169362557	169362557	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggaaaagactttccaaCgttaaattctttaaccaggt	7	8	1	2	rs13151700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169362557C>G	ENST00000511577.1	-	10	1472	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	DDX60L_ENST00000505890.1_Missense_Mutation_p.V409L|DDX60L_ENST00000260184.7_Missense_Mutation_p.V409L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	409			V -> L (in dbSNP:rs13151700).				ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACTTTCCAACGTTAAATTCT	0.358													C|||	1674	0.334265	0.0469	0.5159	5008	,	,		17538	0.6141		0.3439	False		,,,				2504	0.2955				p.V409L		Atlas-SNP	.											.	DDX60L	116	.	0			c.G1225C						PASS	.	C	LEU/VAL	351,3307		31,289,1509	109	104	106		1225	3.1	0.8	4	dbSNP_121	106	2714,5446		435,1844,1801	yes	missense	DDX60L	NM_001012967.1	32	466,2133,3310	GG,GC,CC		33.2598,9.5954,25.935	benign	409/1707	169362557	3065,8753	1829	4080	5909	SO:0001583	missense	91351	exon10			TTCCAACGTTAAA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1225G>C	4.37:g.169362557C>G	ENSP00000422423:p.Val409Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	163	76	0.466258	NM_001012967	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		817	0.3740842490842491	27	0.054878048780487805	171	0.4723756906077348	365	0.6381118881118881	254	0.33509234828496043	C	11.22	1.574833	0.28092	0.095954	0.332598	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18502	2.22;2.22;2.21;2.86	3.1	3.1	0.35709	.	0.263396	0.19176	U	0.120809	T	0.00012	0.0000	M	0.65975	2.015	0.46631	P	8.650000000000047E-4	B;B;B	0.32620	0.378;0.336;0.378	B;B;B	0.25987	0.065;0.048;0.065	T	0.20974	-1.0259	9	0.09084	T	0.74	.	9.9765	0.41786	0.0:1.0:0.0:0.0	rs13151700;rs17706604;rs52823633;rs13151700	409;409;409	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	L	409;409;409;137	ENSP00000260184:V409L;ENSP00000422423:V409L;ENSP00000422202:V409L;ENSP00000421026:V137L	ENSP00000260184:V409L	V	-	1	0	DDX60L	169599132	0.993000	0.37304	0.808000	0.32385	0.024000	0.10985	3.471000	0.53107	1.411000	0.46957	0.313000	0.20887	GTT	C|0.615;G|0.385	0.385	strong		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		G	169362557	C	G	169362557	3	3	22	1	0	0	0	0	1	0	0	0	4379	536	19	4	4011	4	DDX60L	4	169362557	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19631	169362557	21791719	2813	7921										
PALLD	23022	hgsc.bcm.edu	37	chr4	169432673	169432673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatgtcagggacctcctcCcatgagtccttctatgactc	7	13	2	2	rs61051061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169432673C>T	ENST00000505667.1	+	2	191	c.18C>T	c.(16-18)tcC>tcT	p.S6S	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.S6S|PALLD_ENST00000333488.4_5'Flank			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	6					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGACCTCCTCCCATGAGTCCT	0.483									Pancreatic Cancer, Familial Clustering of				C|||	926	0.184904	0.2292	0.1441	5008	,	,		17777	0.1925		0.1958	False		,,,				2504	0.135				p.S6S	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.C18T						PASS	.	C	,	1033,3373	373.0+/-320.6	129,775,1299	67	67	67		18,18	2.9	0.9	4	dbSNP_129	67	1775,6825	309.3+/-309.3	184,1407,2709	yes	coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_016081.3	,	313,2182,4008	TT,TC,CC		20.6395,23.4453,21.59	,	6/1124,6/1107	169432673	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	CTCCTCCCATGAG	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.18C>T	4.37:g.169432673C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			C|0.791;T|0.209	0.209	strong		0.483	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169432673	C	T	169432673	2	4	22	1	0	0	0	0	0	0	0	1	11407	610	22	2		2	PALLD	4	169432673	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70116	169432673	21721603	2814	7922										
PALLD	23022	hgsc.bcm.edu	37	chr4	169432841	169432841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagattttgactcggaaaaGgagatctcgcagattttcag	11	6	2	4	rs1806729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169432841G>A	ENST00000505667.1	+	2	359	c.186G>A	c.(184-186)aaG>aaA	p.K62K	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.K62K|PALLD_ENST00000333488.4_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	62					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACTCGGAAAAGGAGATCTCGC	0.507									Pancreatic Cancer, Familial Clustering of				G|||	1182	0.236022	0.2231	0.1844	5008	,	,		18749	0.1925		0.329	False		,,,				2504	0.2393				p.K62K	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.G186A						PASS	.	G	,	1040,3366	361.4+/-315.7	139,762,1302	39	40	40		186,186	3.7	1	4	dbSNP_92	40	2789,5811	426.7+/-355.4	460,1869,1971	no	coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_016081.3	,	599,2631,3273	AA,AG,GG		32.4302,23.6042,29.4403	,	62/1124,62/1107	169432841	3829,9177	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GGAAAAGGAGATC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.186G>A	4.37:g.169432841G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	120	119	0.991667	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			G|0.728;A|0.272	0.272	strong		0.507	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169432841	G	A	169432841	2	1	22	1	0	0	0	0	0	0	0	1	11407	991	35	2		2	PALLD	4	169432841	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	169432841	21721435	2815	7923										
PALLD	23022	hgsc.bcm.edu	37	chr4	169433326	169433326	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagccagccagagccctaTggaagaccaaggggagatgg					rs397718410|rs7655494|rs373066707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169433326T>C	ENST00000505667.1	+	2	844	c.671T>C	c.(670-672)aTg>aCg	p.M224T	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.M224T|PALLD_ENST00000333488.4_Missense_Mutation_p.M101T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	224			M -> I (in dbSNP:rs7671781).|M -> T (in dbSNP:rs7655494). {ECO:0000269|PubMed:14702039}.		cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGAGCCCTATGGAAGACCAA	0.577									Pancreatic Cancer, Familial Clustering of				C|||	1200	0.239617	0.2368	0.1844	5008	,	,		17132	0.1935		0.33	False		,,,				2504	0.2372				p.M224T	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.T671C						PASS	.	C	THR/MET,THR/MET	1068,3338		151,766,1286	101	106	104		671,671	3.7	0.1	4	dbSNP_116	104	2621,5979		461,1699,2140	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	81,81	612,2465,3426	CC,CT,TT		30.4767,24.2397,28.3638	benign,benign	224/1124,224/1107	169433326	3689,9317	2203	4300	6503	SO:0001583	missense	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GCCCTATGGAAGA	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.671T>C	4.37:g.169433326T>C	ENSP00000425556:p.Met224Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	92	91	0.98913	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	447	0.20467032967032966	90	0.18292682926829268	68	0.1878453038674033	84	0.14685314685314685	205	0.2704485488126649	C	0.001	-2.912011	0.00056	0.242397	0.304767	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.62364	0.14;0.41;0.03;0.11	5.41	3.67	0.42095	.	0.307711	0.17926	N	0.157333	T	0.00012	0.0000	N	0.01048	-1.04	0.52099	P	5.8000000000002494E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24905	-1.0147	9	0.06365	T	0.9	.	1.7516	0.02973	0.1746:0.4889:0.1151:0.2214	rs7655494;rs7655494	224;224	B7ZMM5;B2RTX2	.;.	T	224;224;203;101	ENSP00000261509:M224T;ENSP00000425556:M224T;ENSP00000423063:M203T;ENSP00000328945:M101T	ENSP00000261509:M224T	M	+	2	0	PALLD	169669901	0.008000	0.16893	0.120000	0.21714	0.007000	0.05969	0.369000	0.20416	0.273000	0.22049	-0.880000	0.02959	ATG	T|0.732;C|0.268	0.268	strong		0.577	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		C	169433326	T	C	169433326	3	2	22	1	0	0	0	0	1	0	0	0	11407	1464	51	2	673	2	PALLD	4	169433326	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	485	169433326	21720950	2816	7924	151	3								
PALLD	23022	hgsc.bcm.edu	37	chr4	169433327	169433327	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccagccagagccctatGgaagaccaaggggagatgga					rs397718410|rs373066707|rs7671781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169433327G>A	ENST00000505667.1	+	2	845	c.672G>A	c.(670-672)atG>atA	p.M224I	PALLD_ENST00000333488.4_Missense_Mutation_p.M101I|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.M224I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	224			M -> I (in dbSNP:rs7671781).|M -> T (in dbSNP:rs7655494). {ECO:0000269|PubMed:14702039}.		cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGAGCCCTATGGAAGACCAAG	0.582									Pancreatic Cancer, Familial Clustering of				G|||	1200	0.239617	0.2368	0.1844	5008	,	,		17181	0.1935		0.33	False		,,,				2504	0.2372				p.M224I	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.G672A						PASS	.	G	ILE/MET,ILE/MET	1065,3341		151,763,1289	101	105	104		672,672	-10.8	0	4	dbSNP_116	104	2624,5976		460,1704,2136	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	10,10	611,2467,3425	AA,AG,GG		30.5116,24.1716,28.3638	benign,benign	224/1124,224/1107	169433327	3689,9317	2203	4300	6503	SO:0001583	missense	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	CCCTATGGAAGAC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.672G>A	4.37:g.169433327G>A	ENSP00000425556:p.Met224Ile	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	92	92	1	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	447	0.20467032967032966	89	0.18089430894308944	68	0.1878453038674033	84	0.14685314685314685	206	0.2717678100263852	G	10.73	1.433994	0.25813	0.241716	0.305116	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.61742	0.18;0.46;0.08;0.18	5.41	-10.8	0.00216	.	0.307711	0.17926	N	0.157333	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.6999999999999247E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08576	-1.0715	9	0.13853	T	0.58	.	2.9803	0.05951	0.2733:0.4205:0.1616:0.1446	rs7671781	224;224	B7ZMM5;B2RTX2	.;.	I	224;224;203;101	ENSP00000261509:M224I;ENSP00000425556:M224I;ENSP00000423063:M203I;ENSP00000328945:M101I	ENSP00000261509:M224I	M	+	3	0	PALLD	169669902	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.466000	0.00229	-4.316000	0.00057	-0.918000	0.02743	ATG	G|0.733;A|0.267	0.267	strong		0.582	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169433327	G	A	169433327	3	1	22	1	0	0	0	0	1	0	0	0	11407	1348	47	2	674	2	PALLD	4	169433327	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	169433327	21720949	2817	7925	151	3								
PALLD	23022	hgsc.bcm.edu	37	chr4	169433333	169433333	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccagagccctatggaagaCcaaggggagatggaaagaga					rs7673220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169433333C>T	ENST00000505667.1	+	2	851	c.678C>T	c.(676-678)gaC>gaT	p.D226D	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.D226D|PALLD_ENST00000333488.4_Silent_p.D103D			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	226					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTATGGAAGACCAAGGGGAGA	0.582									Pancreatic Cancer, Familial Clustering of				C|||	1200	0.239617	0.2368	0.1844	5008	,	,		17119	0.1935		0.33	False		,,,				2504	0.2372				p.D226D	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.C678T						PASS	.	C	,	1117,3289	398.5+/-330.9	151,815,1237	101	104	103		678,678	-5.9	0	4	dbSNP_116	103	2811,5789	444.9+/-360.8	461,1889,1950	no	coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_016081.3	,	612,2704,3187	TT,TC,CC		32.686,25.3518,30.2014	,	226/1124,226/1107	169433333	3928,9078	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GGAAGACCAAGGG	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.678C>T	4.37:g.169433333C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			C|0.724;T|0.276	0.276	strong		0.582	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169433333	C	T	169433333	2	4	22	1	0	0	0	0	0	0	0	1	11407	506	18	2		2	PALLD	4	169433333	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	169433333	21720943	2818	7926	151	3								
PALLD	23022	hgsc.bcm.edu	37	chr4	169433444	169433444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcacccacagccccacagCgccctccacttcccagctgc	5	23	1	0	rs72695199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169433444C>T	ENST00000505667.1	+	2	962	c.789C>T	c.(787-789)agC>agT	p.S263S	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Silent_p.S140S|PALLD_ENST00000261509.6_Silent_p.S263S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	263					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCCCACAGCGCCCTCCACT	0.567									Pancreatic Cancer, Familial Clustering of				C|||	287	0.0573083	0.0189	0.0778	5008	,	,		17753	0.0		0.1173	False		,,,				2504	0.092				p.S263S	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.C789T						PASS	.	C	,	189,4217	118.4+/-156.1	9,171,2023	65	59	61		789,789	-10.4	0	4	dbSNP_130	61	1168,7432	238.9+/-270.2	76,1016,3208	no	coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_016081.3	,	85,1187,5231	TT,TC,CC		13.5814,4.2896,10.4336	,	263/1124,263/1107	169433444	1357,11649	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	CCACAGCGCCCTC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.789C>T	4.37:g.169433444C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	125	77	0.616	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			C|0.907;T|0.093	0.093	strong		0.567	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169433444	C	T	169433444	2	4	22	1	0	0	0	0	0	0	0	1	11407	767	27	1		1	PALLD	4	169433444	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111	169433444	21720832	2819	7927										
PALLD	23022	hgsc.bcm.edu	37	chr4	169606649	169606649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcaggttcacagtccaaCttcatatctctgccgacctg	7	13	3	0	rs62333891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169606649C>A	ENST00000505667.1	+	6	1447	c.1274C>A	c.(1273-1275)aCt>aAt	p.T425N	RNU6-1336P_ENST00000383886.1_RNA|PALLD_ENST00000335742.7_Missense_Mutation_p.T43N|PALLD_ENST00000261509.6_Missense_Mutation_p.T425N|PALLD_ENST00000333488.4_Missense_Mutation_p.T302N|PALLD_ENST00000512127.1_Missense_Mutation_p.T43N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	425					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CACAGTCCAACTTCATATCTC	0.403									Pancreatic Cancer, Familial Clustering of				C|||	646	0.128994	0.208	0.196	5008	,	,		19036	0.0804		0.0785	False		,,,				2504	0.0767				p.T425N	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.C1274A						PASS	.	C	ASN/THR,ASN/THR,ASN/THR	807,3599	322.6+/-297.7	79,649,1475	219	213	215		1274,128,1274	5.8	1	4	dbSNP_129	215	642,7958	165.4+/-217.5	15,612,3673	yes	missense,missense,missense	PALLD	NM_001166108.1,NM_001166109.1,NM_016081.3	65,65,65	94,1261,5148	AA,AC,CC		7.4651,18.3159,11.141	probably-damaging,probably-damaging,probably-damaging	425/1124,43/778,425/1107	169606649	1449,11557	2203	4300	6503	SO:0001583	missense	23022	exon6	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GTCCAACTTCATA	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1274C>A	4.37:g.169606649C>A	ENSP00000425556:p.Thr425Asn	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	52	0.419355	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	262	0.11996336996336997	78	0.15853658536585366	69	0.19060773480662985	46	0.08041958041958042	69	0.09102902374670185	C	18.88	3.716838	0.68844	0.183159	0.074651	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	T;T;T;T;T;T;T;D	0.91295	-0.21;-0.27;0.06;-0.25;-0.1;-1.42;-0.2;-2.82	5.77	5.77	0.91146	.	0.000000	0.32901	U	0.005513	T	0.02494	0.0076	M	0.73598	2.24	0.28329	P	0.9218524	D;D;D	0.76494	0.998;0.997;0.999	P;P;D	0.64410	0.852;0.879;0.925	T	0.12268	-1.0554	9	0.62326	D	0.03	.	19.9947	0.97381	0.0:1.0:0.0:0.0	rs62333891	425;43;425	B7ZMM5;B3KTG2;B2RTX2	.;.;.	N	425;43;425;404;302;43;43;43;43	ENSP00000261509:T425N;ENSP00000336735:T43N;ENSP00000425556:T425N;ENSP00000423063:T404N;ENSP00000328945:T302N;ENSP00000424121:T43N;ENSP00000426947:T43N;ENSP00000424288:T43N	ENSP00000261509:T425N	T	+	2	0	PALLD	169843224	1.000000	0.71417	0.984000	0.44739	0.788000	0.44548	3.600000	0.54052	2.736000	0.93811	0.305000	0.20034	ACT	C|0.887;A|0.113	0.113	strong		0.403	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169606649	C	A	169606649	3	1	22	1	0	0	0	0	1	0	0	0	11407	565	20	4	1292	4	PALLD	4	169606649	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	173205	169606649	21547627	2820	7928										
PALLD	23022	hgsc.bcm.edu	37	chr4	169611765	169611765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatttcaggaactgcaaaaCacagccgtggcggaaggcca	12	10	1	0	rs17054482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:169611765C>T	ENST00000505667.1	+	7	1520	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	PALLD_ENST00000335742.7_Silent_p.N67N|PALLD_ENST00000333488.4_Silent_p.N326N|PALLD_ENST00000261509.6_Silent_p.N449N|PALLD_ENST00000512127.1_Silent_p.N67N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	449	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACTGCAAAACACAGCCGTGG	0.498									Pancreatic Cancer, Familial Clustering of				c|||	210	0.0419329	0.1498	0.0159	5008	,	,		17440	0.0		0.001	False		,,,				2504	0.0				p.N449N	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.C1347T						PASS	.	T	,,	570,3836	251.8+/-258.4	41,488,1674	80	94	90		1347,201,1347	3.2	0.9	4	dbSNP_123	90	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_001166109.1,NM_016081.3	,,	41,496,5966	TT,TC,CC		0.093,12.9369,4.4441	,,	449/1124,67/778,449/1107	169611765	578,12428	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon7	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GCAAAACACAGCC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1347C>T	4.37:g.169611765C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	128	62	0.484375	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			C|0.962;T|0.038	0.038	strong		0.498	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169611765	C	T	169611765	2	4	22	1	0	0	0	0	0	0	0	1	11407	477	17	2		2	PALLD	4	169611765	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5116	169611765	21542511	2821	7929										
MFAP3L	9848	hgsc.bcm.edu	37	chr4	170912685	170912685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtgacatcggtagaaggTtctgcagtttcgggggaatg	16	6	1	2	rs61740817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:170912685T>C	ENST00000361618.3	-	3	1381	c.1074A>G	c.(1072-1074)gaA>gaG	p.E358E	MFAP3L_ENST00000393704.3_Silent_p.E255E|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	358						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGGTAGAAGGTTCTGCAGTTT	0.512													.|||	324	0.0646965	0.239	0.0101	5008	,	,		19333	0.0		0.001	False		,,,				2504	0.0				p.E358E		Atlas-SNP	.											MFAP3L,NS,carcinoma,-2,1	MFAP3L	59	1	0			c.A1074G						PASS	.	C	,	788,3618	751.8+/-412.2	79,630,1494	191	160	170		765,1074	2.5	1	4	dbSNP_129	170	8,8592	818.9+/-406.8	0,8,4292	no	coding-synonymous,coding-synonymous	MFAP3L	NM_001009554.2,NM_021647.6	,	79,638,5786	CC,CT,TT		0.093,17.8847,6.1203	,	255/307,358/410	170912685	796,12210	2203	4300	6503	SO:0001819	synonymous_variant	9848	exon3			AGAAGGTTCTGCA	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1074A>G	4.37:g.170912685T>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	213	105	0.492958	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	CCDS34103.1																																																																																			T|0.933;C|0.067	0.067	strong		0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		C	170912685	T	C	170912685	2	2	22	1	0	0	0	0	0	0	0	1	9516	1722	60	2		2	MFAP3L	4	170912685	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1300920	170912685	20241591	2822	7930										
HPGD	3248	hgsc.bcm.edu	37	chr4	175414444	175414444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcattcagtctcacaccacTgttcataagattagcagcca	7	12	3	1	rs200207595		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:175414444T>G	ENST00000296522.6	-	6	966	c.520A>C	c.(520-522)Agt>Cgt	p.S174R	HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Missense_Mutation_p.S106R|HPGD_ENST00000510901.1_Missense_Mutation_p.S53R|HPGD_ENST00000541923.1_Missense_Mutation_p.S53R|HPGD_ENST00000296521.7_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)	174					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)		CTCACACCACTGTTCATAAGA	0.363																																					p.S174R		Atlas-SNP	.											.	HPGD	19	.	0			c.A520C						PASS	.	T	ARG/SER,	4,4402	8.1+/-20.4	0,4,2199	96	91	93		520,	5.6	1	4		93	0,8598		0,0,4299	yes	missense,intron	HPGD	NM_000860.4,NM_001145816.1	110,	0,4,6498	GG,GT,TT		0.0,0.0908,0.0308	possibly-damaging,	174/267,	175414444	4,13000	2203	4299	6502	SO:0001583	missense	3248	exon6			CACCACTGTTCAT		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.520A>C	4.37:g.175414444T>G	ENSP00000296522:p.Ser174Arg	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	121	53	0.438017	NM_000860	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	ENST00000296522.6	37	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146678	0.57151	9.08E-4	0.0	ENSG00000164120	ENST00000296522;ENST00000510901;ENST00000422112;ENST00000541923;ENST00000506910;ENST00000514584	D;D;T;D;D;D	0.82433	-1.61;-1.61;-1.29;-1.61;-1.61;-1.61	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.099373	0.64402	D	0.000001	T	0.79816	0.4511	L	0.31371	0.925	0.80722	D	1	P;D;D	0.71674	0.925;0.98;0.998	B;P;P	0.60682	0.446;0.595;0.878	T	0.76613	-0.2895	10	0.02654	T	1	.	9.2337	0.37453	0.2704:0.0:0.0:0.7296	.	106;174;53	E7EV11;P15428;B4DU74	.;PGDH_HUMAN;.	R	174;53;106;53;53;53	ENSP00000296522:S174R;ENSP00000422418:S53R;ENSP00000398720:S106R;ENSP00000438017:S53R;ENSP00000423066:S53R;ENSP00000423110:S53R	ENSP00000296522:S174R	S	-	1	0	HPGD	175651019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.963000	0.56773	2.119000	0.64992	0.533000	0.62120	AGT	.	.	weak		0.363	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			G	175414444	T	G	175414444	3	3	22	1	0	0	0	0	1	0	0	0	7334	1580	55	5	288	5	HPGD	4	175414444	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4501759	175414444	15739832	2823	7931										
HPGD	3248	hgsc.bcm.edu	37	chr4	175443156	175443156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtcttctgaggttcaaaCtgctcatccagggcagcttt	10	10	4	2	rs1050145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:175443156C>T	ENST00000296522.6	-	2	602	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RP11-440I14.2_ENST00000515178.1_lincRNA|HPGD_ENST00000542498.1_Silent_p.Q52Q|HPGD_ENST00000422112.2_Silent_p.Q52Q|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000504433.1_Silent_p.Q52Q|HPGD_ENST00000541923.1_5'UTR|HPGD_ENST00000296521.7_Silent_p.Q52Q	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)	52					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)	p.Q52Q(1)		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)		GAGGTTCAAACTGCTCATCCA	0.522													T|||	1699	0.339257	0.261	0.3213	5008	,	,		18302	0.4554		0.4066	False		,,,				2504	0.2689				p.Q52Q		Atlas-SNP	.											HPGD,NS,carcinoma,0,1	HPGD	19	1	1	Substitution - coding silent(1)	prostate(1)	c.G156A						PASS	.	T	,	1196,3210	710.0+/-407.8	166,864,1173	171	165	167		156,156	1.4	1	4	dbSNP_86	167	3690,4910	620.8+/-397.1	793,2104,1403	no	coding-synonymous,coding-synonymous	HPGD	NM_000860.4,NM_001145816.1	,	959,2968,2576	TT,TC,CC		42.907,27.1448,37.5673	,	52/267,52/179	175443156	4886,8120	2203	4300	6503	SO:0001819	synonymous_variant	3248	exon2			TTCAAACTGCTCA		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.156G>A	4.37:g.175443156C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	69	38	0.550725	NM_000860	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	ENST00000296522.6	37	CCDS3821.1																																																																																			C|0.628;T|0.372	0.372	strong		0.522	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			T	175443156	C	T	175443156	2	4	22	1	0	0	0	0	0	0	0	1	7334	564	20	2		2	HPGD	4	175443156	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28712	175443156	15711120	2824	7932										
GLRA3	8001	hgsc.bcm.edu	37	chr4	175598280	175598280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtagtcatcgttagcacAgtggttatccccagagctac	10	10	1	1	rs12648678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:175598280A>G	ENST00000274093.3	-	7	1378	c.876T>C	c.(874-876)acT>acC	p.T292T	GLRA3_ENST00000340217.5_Silent_p.T292T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	292					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.T292T(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCGTTAGCACAGTGGTTATCC	0.458													A|||	1084	0.216454	0.1589	0.2305	5008	,	,		17324	0.3651		0.1769	False		,,,				2504	0.1718				p.T292T		Atlas-SNP	.											GLRA3,NS,carcinoma,0,1	GLRA3	76	1	1	Substitution - coding silent(1)	stomach(1)	c.T876C						PASS	.	A	,	723,3683	297.3+/-284.7	60,603,1540	113	91	98		876,876	-8.1	0.9	4	dbSNP_120	98	1487,7113	282.8+/-295.8	117,1253,2930	no	coding-synonymous,coding-synonymous	GLRA3	NM_001042543.1,NM_006529.2	,	177,1856,4470	GG,GA,AA		17.2907,16.4094,16.9922	,	292/450,292/465	175598280	2210,10796	2203	4300	6503	SO:0001819	synonymous_variant	8001	exon7			TAGCACAGTGGTT	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.876T>C	4.37:g.175598280A>G		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	188	86	0.457447	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																			A|0.807;G|0.193	0.193	strong		0.458	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			G	175598280	A	G	175598280	2	3	22	1	0	0	0	0	0	0	0	1	6456	175	7	3		3	GLRA3	4	175598280	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	155124	175598280	15555996	2825	7933										
GLRA3	8001	hgsc.bcm.edu	37	chr4	175688141	175688141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctctgcgatagagccaaaGctgttgatgaatatgttgca	11	7	1	3	rs12651268|rs201682361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:175688141G>A	ENST00000274093.3	-	3	742	c.240C>T	c.(238-240)agC>agT	p.S80S	GLRA3_ENST00000340217.5_Silent_p.S80S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	80					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TAGAGCCAAAGCTGTTGATGA	0.353													G|||	1696	0.338658	0.1142	0.3242	5008	,	,		16006	0.5198		0.3708	False		,,,				2504	0.4325				p.S80S		Atlas-SNP	.											.	GLRA3	76	.	0			c.C240T						PASS	.	G	,	53,4353		24,5,2174	168	160	163		240,240	4.8	1	4	dbSNP_120	163	621,7979		243,135,3922	no	coding-synonymous,coding-synonymous	GLRA3	NM_001042543.1,NM_006529.2	,	267,140,6096	AA,AG,GG		7.2209,1.2029,5.1822	,	80/450,80/465	175688141	674,12332	2203	4300	6503	SO:0001819	synonymous_variant	8001	exon3			GCCAAAGCTGTTG	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.240C>T	4.37:g.175688141G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	98	55	0.561224	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																			G|0.704;A|0.296	0.296	strong		0.353	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			A	175688141	G	A	175688141	2	1	22	1	0	0	0	0	0	0	0	1	6456	962	34	2		2	GLRA3	4	175688141	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89861	175688141	15466135	2826	7934										
SPATA4	132851	hgsc.bcm.edu	37	chr4	177113836	177113836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaaaaggatgaggaactcCgctttaagttcattggtcag	11	6	2	1	rs6832177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:177113836C>T	ENST00000280191.2	-	4	738	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SPATA4_ENST00000515234.1_Silent_p.A37A	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	210						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TGAGGAACTCCGCTTTAAGTT	0.373													c|||	1416	0.282748	0.2239	0.3646	5008	,	,		17787	0.255		0.3708	False		,,,				2504	0.2423				p.A210A		Atlas-SNP	.											SPATA4,NS,carcinoma,-1,1	SPATA4	44	1	0			c.G630A						PASS	.	C		1120,3286	398.3+/-330.8	147,826,1230	88	91	90		630	-3.7	0	4	dbSNP_116	90	3042,5558	466.9+/-366.9	551,1940,1809	no	coding-synonymous	SPATA4	NM_144644.2		698,2766,3039	TT,TC,CC		35.3721,25.4199,32.0006		210/306	177113836	4162,8844	2203	4300	6503	SO:0001819	synonymous_variant	132851	exon4			GAACTCCGCTTTA	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.630G>A	4.37:g.177113836C>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	214	94	0.439252	NM_144644	Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	CCDS3826.1																																																																																			C|0.701;T|0.299	0.299	strong		0.373	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		T	177113836	C	T	177113836	2	4	22	1	0	0	0	0	0	0	0	1	15009	639	23	1		1	SPATA4	4	177113836	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1425695	177113836	14040440	2827	7935										
SPATA4	132851	hgsc.bcm.edu	37	chr4	177113956	177113956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaaacgcatctggtagctAtagtccgtgaaattcacaaa	9	8	2	1	rs2291244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:177113956A>G	ENST00000280191.2	-	4	618	c.510T>C	c.(508-510)taT>taC	p.Y170Y	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	170						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TCTGGTAGCTATAGTCCGTGA	0.338													A|||	1133	0.226238	0.1573	0.1614	5008	,	,		18209	0.381		0.1769	False		,,,				2504	0.2566				p.Y170Y		Atlas-SNP	.											.	SPATA4	44	.	0			c.T510C						PASS	.	A		727,3679	299.6+/-285.9	67,593,1543	61	61	61		510	-7.6	0.4	4	dbSNP_100	61	1497,7103	282.9+/-295.8	138,1221,2941	no	coding-synonymous	SPATA4	NM_144644.2		205,1814,4484	GG,GA,AA		17.407,16.5002,17.0998		170/306	177113956	2224,10782	2203	4300	6503	SO:0001819	synonymous_variant	132851	exon4			GTAGCTATAGTCC	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.510T>C	4.37:g.177113956A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	64	30	0.46875	NM_144644	Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	CCDS3826.1																																																																																			A|0.801;G|0.199	0.199	strong		0.338	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		G	177113956	A	G	177113956	2	3	22	1	0	0	0	0	0	0	0	1	15009	456	16	2		2	SPATA4	4	177113956	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	120	177113956	14040320	2828	7936										
NEIL3	55247	hgsc.bcm.edu	37	chr4	178231219	178231219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgcggagtctgcagggcCgcgccttgcggctcgcagcc	15	16	2	0	rs34007209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:178231219C>T	ENST00000264596.3	+	1	230	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	38			R -> C (in dbSNP:rs34007209). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TCTGCAGGGCCGCGCCTTGCG	0.652								Base excision repair (BER), DNA glycosylases					C|||	530	0.105831	0.3623	0.0447	5008	,	,		12349	0.0		0.0149	False		,,,				2504	0.0051				p.R38C		Atlas-SNP	.											NEIL3,NS,carcinoma,0,2	NEIL3	89	2	0			c.C112T						PASS	.	C	CYS/ARG	1374,3022		237,900,1061	14	16	15		112	-0.4	0	4	dbSNP_126	15	159,8417		4,151,4133	no	missense	NEIL3	NM_018248.2	180	241,1051,5194	TT,TC,CC		1.854,31.2557,11.8178	possibly-damaging	38/606	178231219	1533,11439	2198	4288	6486	SO:0001583	missense	55247	exon1			CAGGGCCGCGCCT	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.112C>T	4.37:g.178231219C>T	ENSP00000264596:p.Arg38Cys	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	57	33	0.578947	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	198	0.09065934065934066	170	0.34552845528455284	16	0.04419889502762431	0	0.0	12	0.0158311345646438	C	13.86	2.362325	0.41902	0.312557	0.01854	ENSG00000109674	ENST00000264596	T	0.23552	1.9	4.59	-0.355	0.12587	DNA glycosylase/AP lyase, catalytic domain (1);	1.002150	0.08041	N	0.995170	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.48640	0.913	B	0.35312	0.2	T	0.41893	-0.9483	9	0.59425	D	0.04	-0.0398	4.619	0.12440	0.0:0.4873:0.155:0.3576	rs34007209	38	Q8TAT5	NEIL3_HUMAN	C	38	ENSP00000264596:R38C	ENSP00000264596:R38C	R	+	1	0	NEIL3	178468213	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.600000	0.05693	-0.228000	0.09869	0.561000	0.74099	CGC	C|0.884;T|0.116	0.116	strong		0.652	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		T	178231219	C	T	178231219	3	4	22	1	0	0	0	0	1	0	0	0	10320	652	23	1	114	1	NEIL3	4	178231219	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1117263	178231219	12923057	2829	7937										
NEIL3	55247	hgsc.bcm.edu	37	chr4	178257364	178257364	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagtgaagttaaaaaacaGaaaggccggatgctaggtga	13	4	0	3	rs17064658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:178257364G>C	ENST00000264596.3	+	4	634	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	172			Q -> H (in dbSNP:rs17064658). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTAAAAAACAGAAAGGCCGGA	0.398								Base excision repair (BER), DNA glycosylases					G|||	123	0.0245607	0.0741	0.0144	5008	,	,		16964	0.0		0.0099	False		,,,				2504	0.0051				p.Q172H		Atlas-SNP	.											.	NEIL3	89	.	0			c.G516C						PASS	.	G	HIS/GLN	255,4151	147.3+/-181.8	12,231,1960	138	142	141		516	2.3	0.7	4	dbSNP_123	141	99,8501	54.0+/-114.7	1,97,4202	yes	missense	NEIL3	NM_018248.2	24	13,328,6162	CC,CG,GG		1.1512,5.7876,2.7218	possibly-damaging	172/606	178257364	354,12652	2203	4300	6503	SO:0001583	missense	55247	exon4			AAAACAGAAAGGC	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.516G>C	4.37:g.178257364G>C	ENSP00000264596:p.Gln172His	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	88	41	0.465909	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	44	0.020146520146520148	29	0.05894308943089431	7	0.019337016574585635	0	0.0	8	0.010554089709762533	G	11.19	1.566029	0.27915	0.057876	0.011512	ENSG00000109674	ENST00000264596	T	0.14516	2.5	4.93	2.28	0.28536	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.118971	0.64402	D	0.000017	T	0.01454	0.0047	L	0.31207	0.915	0.40999	D	0.984912	D	0.53312	0.959	P	0.53760	0.734	T	0.07195	-1.0785	10	0.37606	T	0.19	-13.2033	7.8072	0.29209	0.3219:0.0:0.6781:0.0	rs17064658;rs52811923;rs17064658	172	Q8TAT5	NEIL3_HUMAN	H	172	ENSP00000264596:Q172H	ENSP00000264596:Q172H	Q	+	3	2	NEIL3	178494358	0.987000	0.35691	0.674000	0.29902	0.558000	0.35554	1.962000	0.40442	0.367000	0.24454	0.655000	0.94253	CAG	G|0.975;C|0.025	0.025	strong		0.398	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		C	178257364	G	C	178257364	3	2	22	1	0	0	0	0	1	0	0	0	10320	933	33	4	530	4	NEIL3	4	178257364	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26145	178257364	12896912	2830	7938										
NEIL3	55247	hgsc.bcm.edu	37	chr4	178262683	178262683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataaggtttacaagcgtccTaattgtggtcagtgccactg	10	8	1	0	rs17676249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:178262683T>C	ENST00000264596.3	+	6	874	c.756T>C	c.(754-756)ccT>ccC	p.P252P	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	252					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ACAAGCGTCCTAATTGTGGTC	0.388								Base excision repair (BER), DNA glycosylases					T|||	728	0.145367	0.1437	0.1268	5008	,	,		16258	0.1091		0.2048	False		,,,				2504	0.137				p.P252P		Atlas-SNP	.											.	NEIL3	89	.	0			c.T756C						PASS	.	T		753,3653	309.1+/-290.9	69,615,1519	90	84	86		756	3	1	4	dbSNP_123	86	1837,6763	328.8+/-318.4	194,1449,2657	no	coding-synonymous	NEIL3	NM_018248.2		263,2064,4176	CC,CT,TT		21.3605,17.0903,19.9139		252/606	178262683	2590,10416	2203	4300	6503	SO:0001819	synonymous_variant	55247	exon6			GCGTCCTAATTGT	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.756T>C	4.37:g.178262683T>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	CCDS3828.1																																																																																			T|0.826;C|0.174	0.174	strong		0.388	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		C	178262683	T	C	178262683	2	2	22	1	0	0	0	0	0	0	0	1	10320	1509	53	3		3	NEIL3	4	178262683	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5319	178262683	12891593	2831	7939										
NEIL3	55247	hgsc.bcm.edu	37	chr4	178283474	178283474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttcccattctgcaaccAtggcaagcgttccaccatga	7	15	1	1	rs35418725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:178283474A>G	ENST00000264596.3	+	10	1785	c.1667A>G	c.(1666-1668)cAt>cGt	p.H556R		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	556			H -> R (in dbSNP:rs35418725). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTCTGCAACCATGGCAAGCGT	0.383								Base excision repair (BER), DNA glycosylases					A|||	24	0.00479233	0.0174	0.0014	5008	,	,		19183	0.0		0.0	False		,,,				2504	0.0				p.H556R		Atlas-SNP	.											.	NEIL3	89	.	0			c.A1667G						PASS	.	A	ARG/HIS	74,4332	60.5+/-97.4	0,74,2129	93	94	94		1667	3.5	1	4	dbSNP_126	94	0,8600		0,0,4300	yes	missense	NEIL3	NM_018248.2	29	0,74,6429	GG,GA,AA		0.0,1.6795,0.569	possibly-damaging	556/606	178283474	74,12932	2203	4300	6503	SO:0001583	missense	55247	exon10			GCAACCATGGCAA	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1667A>G	4.37:g.178283474A>G	ENSP00000264596:p.His556Arg	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	124	55	0.443548	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	A	17.52	3.409952	0.62399	0.016795	0.0	ENSG00000109674	ENST00000264596	T	0.26223	1.75	4.63	3.45	0.39498	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	H	0.94542	3.55	0.58432	D	0.999995	D	0.64830	0.994	D	0.70487	0.969	T	0.61936	-0.6960	10	0.87932	D	0	-19.9676	10.3252	0.43790	0.9223:0.0:0.0777:0.0	rs35418725	556	Q8TAT5	NEIL3_HUMAN	R	556	ENSP00000264596:H556R	ENSP00000264596:H556R	H	+	2	0	NEIL3	178520468	1.000000	0.71417	0.983000	0.44433	0.753000	0.42808	8.872000	0.92352	0.937000	0.37394	0.402000	0.26972	CAT	A|0.996;G|0.004	0.004	strong		0.383	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		G	178283474	A	G	178283474	3	3	22	1	0	0	0	0	1	0	0	0	10320	217	8	2	1705	2	NEIL3	4	178283474	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20791	178283474	12870802	2832	7940										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183594275	183594275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagatcacagctcttcaTtgatcagccacagtttctta	7	11	5	2	rs201144002		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:183594275T>C	ENST00000511685.1	+	7	1352	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	TENM3_ENST00000406950.2_Missense_Mutation_p.I410T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	410					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGCTCTTCATTGATCAGCCA	0.438																																					p.I410T		Atlas-SNP	.											.	.	.	.	0			c.T1229C						PASS	.	T	THR/ILE	0,3630		0,0,1815	63	59	60		1229	4.9	1	4		60	1,8189		0,1,4094	yes	missense	ODZ3	NM_001080477.1	89	0,1,5909	CC,CT,TT		0.0122,0.0,0.0085	possibly-damaging	410/2700	183594275	1,11819	1815	4095	5910	SO:0001583	missense	55714	exon6			TCTTCATTGATCA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1229T>C	4.37:g.183594275T>C	ENSP00000424226:p.Ile410Thr	Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	195	100	0.512821	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476907	0.63849	0.0	1.22E-4	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.29397	1.57;1.57	4.91	4.91	0.64330	.	.	.	.	.	T	0.31765	0.0807	M	0.67397	2.05	0.53688	D	0.999978	B	0.33694	0.421	B	0.26864	0.074	T	0.15780	-1.0425	9	0.44086	T	0.13	.	15.0662	0.71996	0.0:0.0:0.0:1.0	.	410	Q9P273	TEN3_HUMAN	T	410	ENSP00000424226:I410T;ENSP00000385276:I410T	ENSP00000385276:I410T	I	+	2	0	ODZ3	183831269	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.822000	0.86651	2.197000	0.70478	0.456000	0.33151	ATT	.	.	weak		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			C	183594275	T	C	183594275	3	2	22	1	0	0	0	0	1	0	0	0	10836	1493	52	2	1251	2	ODZ3	4	183594275	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5310801	183594275	7560001	2833	7941										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183720831	183720831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggccgaggtgcaggtgaGccggcgccgggccggcggcg	22	12	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:183720831G>A	ENST00000511685.1	+	28	7550	c.7427G>A	c.(7426-7428)aGc>aAc	p.S2476N	TENM3_ENST00000406950.2_Missense_Mutation_p.S2476N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2476					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTGCAGGTGAgccggcgccgg	0.697																																					p.S2476N		Atlas-SNP	.											.	.	.	.	0			c.G7427A						PASS	.						5	7	7					4																	183720831		1716	3423	5139	SO:0001583	missense	55714	exon27			AGGTGAGCCGGCG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7427G>A	4.37:g.183720831G>A	ENSP00000424226:p.Ser2476Asn	Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	10	8	0.8	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054373	0.36277	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86627	-2.15;-2.15	4.79	3.94	0.45596	.	.	.	.	.	T	0.79505	0.4457	L	0.32530	0.975	0.53005	D	0.999968	B	0.27498	0.18	B	0.18871	0.023	T	0.74352	-0.3693	9	0.18276	T	0.48	.	15.4632	0.75377	0.0:0.1392:0.8608:0.0	.	2476	Q9P273	TEN3_HUMAN	N	2476	ENSP00000424226:S2476N;ENSP00000385276:S2476N	ENSP00000385276:S2476N	S	+	2	0	ODZ3	183957825	1.000000	0.71417	0.997000	0.53966	0.764000	0.43329	6.546000	0.73887	1.357000	0.45904	0.557000	0.71058	AGC	.	.	none		0.697	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183720831	G	A	183720831	3	1	22	1	0	0	0	0	1	0	0	0	10836	971	34	2	7533	2	ODZ3	4	183720831	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126556	183720831	7433445	2834	7942										
DCTD	1635	hgsc.bcm.edu	37	chr4	183814234	183814234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctcgcagcagttgcctcGtcactatcatggtatttatc	8	12	2	0	rs369366826		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:183814234G>A	ENST00000438320.2	-	5	698	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DCTD_ENST00000357067.3_Silent_p.D147D|DCTD_ENST00000510370.1_Silent_p.D136D	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	136					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	CAGTTGCCTCGTCACTATCAT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17184	0.0		0.0	False		,,,				2504	0.0				p.D147D		Atlas-SNP	.											.	DCTD	30	.	0			c.C441T						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	72	67	69		441,408	-10.8	0	4		69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DCTD	NM_001012732.1,NM_001921.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	147/190,136/179	183814234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1635	exon5			TGCCTCGTCACTA	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.408C>T	4.37:g.183814234G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	233	110	0.472103	NM_001012732	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	ENST00000438320.2	37	CCDS3831.1																																																																																			.	.	weak		0.507	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			A	183814234	G	A	183814234	2	1	22	1	0	0	0	0	0	0	0	1	4305	1136	40	1		1	DCTD	4	183814234	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93403	183814234	7340042	2835	7943										
CLDN22	53842	hgsc.bcm.edu	37	chr4	184240777	184240777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgtttgtgccactgcgtAgtggcccgaagctaggggag	16	8	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:184240777A>G	ENST00000323319.5	-	1	1150	c.595T>C	c.(595-597)Tac>Cac	p.Y199H	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	199					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCCACTGCGTAGTGGCCCGAA	0.542																																					p.Y199H		Atlas-SNP	.											CLDN22,NS,carcinoma,+2,1	CLDN22	20	1	0			c.T595C						scavenged	.						232	210	217					4																	184240777		1568	3582	5150	SO:0001583	missense	53842	exon1			CTGCGTAGTGGCC	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"Claudins"	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.595T>C	4.37:g.184240777A>G	ENSP00000318113:p.Tyr199His	Somatic	243	2	0.00823045		WXS	Illumina HiSeq	Phase_I	300	153	0.51	NM_001111319		Missense_Mutation	SNP	ENST00000323319.5	37	CCDS43286.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577764	0.28180	.	.	ENSG00000177300	ENST00000323319	D	0.85411	-1.98	6.07	2.4	0.29515	.	0.831349	0.11145	N	0.594777	T	0.80974	0.4727	M	0.63843	1.955	0.09310	N	1	B	0.29508	0.246	B	0.26094	0.066	T	0.69135	-0.5225	10	0.54805	T	0.06	.	6.5842	0.22612	0.7044:0.0:0.1875:0.108	.	199	Q8N7P3	CLD22_HUMAN	H	199	ENSP00000318113:Y199H	ENSP00000318113:Y199H	Y	-	1	0	CLDN22	184477771	0.029000	0.19370	0.651000	0.29564	0.026000	0.11368	0.963000	0.29293	0.176000	0.19873	-1.139000	0.01908	TAC	.	.	none		0.542	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			G	184240777	A	G	184240777	3	3	22	1	0	0	0	0	1	0	0	0	3483	420	15	3	71	3	CLDN22	4	184240777	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	426543	184240777	6913499	2836	7944										
IRF2	3660	hgsc.bcm.edu	37	chr4	185310218	185310218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttccgccagtgtggccgCccctttcaagaaagtaatta	8	13	2	1	rs1131553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:185310218C>T	ENST00000393593.3	-	9	951	c.744G>A	c.(742-744)ggG>ggA	p.G248G		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	248					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGTGTGGCCGCCCCTTTCAAG	0.498													C|||	2119	0.423123	0.3548	0.5245	5008	,	,		20139	0.4216		0.3598	False		,,,				2504	0.5102				p.G248G		Atlas-SNP	.											IRF2,NS,carcinoma,0,1	IRF2	53	1	1	Substitution - coding silent(1)	stomach(1)	c.G744A						PASS	.	C		1525,2881	483.3+/-359.7	262,1001,940	129	111	117		744	-4	0.9	4	dbSNP_107	117	3376,5224	500.1+/-375.1	677,2022,1601	no	coding-synonymous	IRF2	NM_002199.3		939,3023,2541	TT,TC,CC		39.2558,34.6119,37.6826		248/350	185310218	4901,8105	2203	4300	6503	SO:0001819	synonymous_variant	3660	exon9			TGGCCGCCCCTTT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.744G>A	4.37:g.185310218C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	168	87	0.517857	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	CCDS3835.1	869	0.39789377289377287	184	0.37398373983739835	192	0.5303867403314917	211	0.3688811188811189	282	0.3720316622691293	C	4.681	0.126624	0.08931	0.346119	0.392558	ENSG00000168310	ENST00000505067	.	.	.	5.31	-4.03	0.04021	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999610463	.	.	.	.	.	.	T	0.48151	-0.9060	3	.	.	.	.	1.1333	0.01749	0.3733:0.1003:0.2741:0.2523	rs3775543;rs17417214;rs3775543	.	.	.	T	182	.	.	A	-	1	0	IRF2	185547212	0.073000	0.21202	0.901000	0.35422	0.846000	0.48090	-1.266000	0.02842	-0.699000	0.05077	-0.324000	0.08512	GCG	C|0.617;T|0.383	0.383	strong		0.498	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			T	185310218	C	T	185310218	2	4	22	1	0	0	0	0	0	0	0	1	7828	726	26	2		2	IRF2	4	185310218	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1069441	185310218	5844058	2837	7945										
HELT	391723	hgsc.bcm.edu	37	chr4	185940196	185940196	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttgggtggaccgatggcAgggaagtgcccgcacgggac	17	11	0	0	rs370662812		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:185940196A>T	ENST00000515777.1	+	1	115				HELT_ENST00000505610.1_Intron|HELT_ENST00000338875.4_Silent_p.A38A			A6NFD8	HELT_HUMAN	helt bHLH transcription factor						central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GACCGATGGCAGGGAAGTGCC	0.602																																					p.A38A		Atlas-SNP	.											.	HELT	34	.	0			c.A114T						PASS	.	A		0,4406		0,0,2203	75	70	72		114	-2.8	0	4		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HELT	NM_001029887.1		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		38/328	185940196	1,13005	2203	4300	6503	SO:0001627	intron_variant	391723	exon1			GATGGCAGGGAAG	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.27+87A>T	4.37:g.185940196A>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	60	0.526316	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37																																																																																				.	.	weak		0.602	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		T	185940196	A	T	185940196	1	4	22	0	1	0	0	0	0	0	0	0	7048	175	7	5		5	HELT	4	185940196	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	629978	185940196	5214080	2838	7946										
HELT	391723	hgsc.bcm.edu	37	chr4	185940952	185940952	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgagatgaccgttcagtacCtgagagcactgcactccgct	10	13	1	3	rs1078461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:185940952C>G	ENST00000515777.1	+	3	272	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	HELT_ENST00000505610.1_Missense_Mutation_p.L62V|HELT_ENST00000338875.4_Missense_Mutation_p.L147V			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	62	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		L -> V (in dbSNP:rs1078461).		central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGTTCAGTACCTGAGAGCACT	0.642													c|||	559	0.111621	0.0862	0.1354	5008	,	,		16083	0.1885		0.0924	False		,,,				2504	0.0695				p.L147V		Atlas-SNP	.											.	HELT	34	.	0			c.C439G						PASS	.	C	VAL/LEU	425,3981	193.3+/-218.5	21,383,1799	30	31	31		439	3.1	1	4	dbSNP_86	31	819,7781	180.6+/-229.5	39,741,3520	yes	missense	HELT	NM_001029887.1	32	60,1124,5319	GG,GC,CC		9.5233,9.6459,9.5648	probably-damaging	147/328	185940952	1244,11762	2203	4300	6503	SO:0001583	missense	391723	exon3			CAGTACCTGAGAG	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.184C>G	4.37:g.185940952C>G	ENSP00000426033:p.Leu62Val	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	155	80	0.516129	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37		264	0.12087912087912088	41	0.08333333333333333	41	0.1132596685082873	109	0.19055944055944055	73	0.09630606860158311	C	19.49	3.837382	0.71373	0.096459	0.095233	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	D;D;D	0.98060	-4.69;-4.69;-4.69	4.89	3.12	0.35913	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000010	T	0.04770	0.0129	L	0.39566	1.225	0.20975	P	0.999819995	D;P;P	0.57899	0.981;0.937;0.923	P;P;P	0.59948	0.866;0.794;0.69	T	0.05852	-1.0860	9	0.56958	D	0.05	.	9.7352	0.40384	0.0:0.7691:0.0:0.2309	rs1078461;rs4359954;rs17631598;rs1078461	147;62;62	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	V	62;62;147	ENSP00000422140:L62V;ENSP00000426033:L62V;ENSP00000343464:L147V	ENSP00000343464:L147V	L	+	1	2	HELT	186177946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.880000	0.48530	1.288000	0.44600	0.561000	0.74099	CTG	C|0.898;G|0.102	0.102	strong		0.642	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		G	185940952	C	G	185940952	3	3	22	1	0	0	0	0	1	0	0	0	7048	680	24	4	449	4	HELT	4	185940952	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	756	185940952	5213324	2839	7947										
CCDC110	256309	hgsc.bcm.edu	37	chr4	186379735	186379735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctcttcggcagtagatTggtaggtttgaatattctca	9	6	2	2	rs6827370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:186379735T>C	ENST00000307588.3	-	6	2081	c.2006A>G	c.(2005-2007)cAa>cGa	p.Q669R	CCDC110_ENST00000510617.1_Missense_Mutation_p.Q669R|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q632R	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	669			Q -> R (in dbSNP:rs6827370).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCAGTAGATTGGTAGGTTTG	0.323													T|||	1068	0.213259	0.2965	0.1599	5008	,	,		17673	0.2698		0.1223	False		,,,				2504	0.1738				p.Q669R		Atlas-SNP	.											.	CCDC110	78	.	0			c.A2006G						PASS	.	T	ARG/GLN,ARG/GLN	1265,3137	397.0+/-330.2	179,907,1115	74	80	78		1895,2006	3	0.2	4	dbSNP_116	78	938,7654	202.5+/-245.8	53,832,3411	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	43,43	232,1739,4526	CC,CT,TT		10.9171,28.7369,16.954	benign,benign	632/797,669/834	186379735	2203,10791	2201	4296	6497	SO:0001583	missense	256309	exon6			GTAGATTGGTAGG	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2006A>G	4.37:g.186379735T>C	ENSP00000306776:p.Gln669Arg	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	39	24	0.615385	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	419	0.19184981684981686	152	0.3089430894308943	45	0.12430939226519337	125	0.21853146853146854	97	0.1279683377308707	T	6.827	0.521826	0.13005	0.287369	0.109171	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.32515	1.45;1.45;1.45	5.54	3.02	0.34903	.	0.512841	0.17867	N	0.159308	T	0.00012	0.0000	L	0.35723	1.085	0.80722	P	0.0	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.17433	0.018;0.018;0.018	T	0.42378	-0.9455	9	0.14656	T	0.56	-0.2388	8.2339	0.31614	0.0:0.2298:0.0:0.7702	rs6827370;rs52809614;rs58133308;rs6827370	669;632;669	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	R	632;669;669	ENSP00000377172:Q632R;ENSP00000306776:Q669R;ENSP00000427246:Q669R	ENSP00000306776:Q669R	Q	-	2	0	CCDC110	186616729	0.623000	0.27094	0.209000	0.23619	0.953000	0.61014	1.465000	0.35299	0.438000	0.26450	0.528000	0.53228	CAA	T|0.816;C|0.184	0.184	strong		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		C	186379735	T	C	186379735	3	2	22	1	0	0	0	0	1	0	0	0	2747	1812	63	2	503	2	CCDC110	4	186379735	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	438783	186379735	4774541	2840	7948										
SORBS2	8470	hgsc.bcm.edu	37	chr4	186545346	186545346	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggagtcctcctcacataAcagggagcccatgctttccg	9	14	1	0	rs61736043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:186545346A>T	ENST00000284776.7	-	13	1734	c.1225T>A	c.(1225-1227)Tta>Ata	p.L409I	SORBS2_ENST00000355634.5_Missense_Mutation_p.L509I|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.L409I|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.L313I|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	409					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCCTCACATAACAGGGAGCCC	0.577													A|||	57	0.0113818	0.0416	0.0029	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0				p.L509I	Esophageal Squamous(153;41 2433 9491 36028)	Atlas-SNP	.											.	SORBS2	300	.	0			c.T1525A						PASS	.	A	ILE/LEU,ILE/LEU,,,,,,	170,4236	112.5+/-150.6	2,166,2035	63	58	60		937,1225,,,,,,	-10.1	0	4	dbSNP_129	60	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,intron,intron,intron,intron	SORBS2	NM_001145674.1,NM_021069.4,NM_001145670.1,NM_001145671.1,NM_001145672.1,NM_001145673.1,NM_001145675.1,NM_003603.5	5,5,,,,,,	2,167,6334	TT,TA,AA		0.0116,3.8584,1.3148	probably-damaging,probably-damaging,,,,,,	313/1005,409/1101,,,,,,	186545346	171,12835	2203	4300	6503	SO:0001583	missense	8470	exon16			CACATAACAGGGA		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1225T>A	4.37:g.186545346A>T	ENSP00000284776:p.Leu409Ile	Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	253	121	0.478261	NM_001270771	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	A	11.06	1.528292	0.27299	0.038584	1.16E-4	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.37411	1.31;1.31;1.2;1.29	5.72	-10.1	0.00402	.	0.248771	0.33180	N	0.005188	T	0.14399	0.0348	L	0.42245	1.32	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.995	D;D;P	0.75020	0.985;0.984;0.792	T	0.63470	-0.6630	10	0.45353	T	0.12	-2.604	18.4155	0.90568	0.2035:0.0853:0.7112:0.0	rs61736043	313;509;409	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	I	409;409;313;509	ENSP00000284776:L409I;ENSP00000411764:L409I;ENSP00000397482:L313I;ENSP00000347852:L509I	ENSP00000284776:L409I	L	-	1	2	SORBS2	186782340	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.844000	0.04345	-2.307000	0.00653	-0.479000	0.04858	TTA	A|0.977;T|0.023	0.023	strong		0.577	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		T	186545346	A	T	186545346	3	4	22	1	0	0	0	0	1	0	0	0	14928	40	2	5	2113	5	SORBS2	4	186545346	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	165611	186545346	4608930	2841	7949										
SORBS2	8470	hgsc.bcm.edu	37	chr4	186573817	186573817	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagagcagcagacataccCggcttgtgcaccatgtgaat	11	11	0	3	rs61732192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:186573817C>T	ENST00000284776.7	-	7	842	c.333G>A	c.(331-333)ccG>ccA	p.P111P	SORBS2_ENST00000319471.9_Splice_Site_p.P197P|SORBS2_ENST00000393528.3_Splice_Site_p.P157P|SORBS2_ENST00000431808.1_Splice_Site_p.P111P|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000449407.2_Splice_Site_p.P197P|SORBS2_ENST00000448662.2_Splice_Site_p.P180P|SORBS2_ENST00000437304.2_Splice_Site_p.P290P|SORBS2_ENST00000418609.1_Splice_Site_p.P30P|SORBS2_ENST00000355634.5_Splice_Site_p.P211P	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	111	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGACATACCCGGCTTGTGCA	0.483													C|||	82	0.0163738	0.0598	0.0043	5008	,	,		22370	0.0		0.0	False		,,,				2504	0.0				p.P290P	Esophageal Squamous(153;41 2433 9491 36028)	Atlas-SNP	.											SORBS2_ENST00000448662,NS,carcinoma,-1,4	SORBS2	300	4	0			c.G870A						scavenged	.	C	,,,,,,,	224,4182	132.9+/-169.3	5,214,1984	247	195	213		591,591,540,870,90,90,471,333	-10.3	0	4	dbSNP_129	213	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SORBS2	NM_001145670.1,NM_001145671.1,NM_001145672.1,NM_001145673.1,NM_001145674.1,NM_001145675.1,NM_003603.5,NM_021069.4	,,,,,,,	5,214,6284	TT,TC,CC		0.0,5.084,1.7223	,,,,,,,	197/645,197/732,180/662,290/825,30/1005,30/493,157/667,111/1101	186573817	224,12782	2203	4300	6503	SO:0001630	splice_region_variant	8470	exon8			CATACCCGGCTTG		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.334+1G>A	4.37:g.186573817C>T		Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	149	75	0.503356	NM_001145673	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	CCDS3845.1	33|33	0.01510989010989011|0.01510989010989011	31|31	0.06300813008130081|0.06300813008130081	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	4.660|4.660	0.122652|0.122652	0.08931|0.08931	0.05084|0.05084	0.0|0.0	ENSG00000154556|ENSG00000154556	ENST00000438278|ENST00000445625	.|.	.|.	.|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.06050|0.06050	0.0157|0.0157	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43491|0.43491	-0.9388|-0.9388	4|4	.|.	.|.	.|.	-26.7084|-26.7084	3.9267|3.9267	0.09267|0.09267	0.206:0.1058:0.1231:0.5652|0.206:0.1058:0.1231:0.5652	.|.	.|.	.|.	.|.	R|Q	55|9	.|.	.|.	G|R	-|-	1|2	0|0	SORBS2|SORBS2	186810811|186810811	0.003000|0.003000	0.15002|0.15002	0.047000|0.047000	0.18901|0.18901	0.189000|0.189000	0.23516|0.23516	-1.527000|-1.527000	0.02227|0.02227	-3.174000|-3.174000	0.00224|0.00224	-0.819000|-0.819000	0.03115|0.03115	GGA|CGG	C|0.984;T|0.016	0.016	strong		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Silent	T	186573817	C	T	186573817	5	4	22	1	0	0	0	0	0	0	1	0	14928	666	23	1	3341	1	SORBS2	4	186573817	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28471	186573817	4580459	2842	7950										
TLR3	7098	hgsc.bcm.edu	37	chr4	187004544	187004544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcacctccacatccttaaCttggagtccaacggctttga	6	14	1	1	rs35111588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187004544C>T	ENST00000296795.3	+	4	1808	c.1704C>T	c.(1702-1704)aaC>aaT	p.N568N	TLR3_ENST00000504367.1_Silent_p.N291N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	568					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACATCCTTAACTTGGAGTCCA	0.423													C|||	296	0.0591054	0.2156	0.013	5008	,	,		20763	0.0		0.002	False		,,,				2504	0.0				p.N568N		Atlas-SNP	.											.	TLR3	83	.	0			c.C1704T						PASS	.	C		714,3692	297.8+/-285.0	60,594,1549	92	90	91		1704	-2.8	0.9	4	dbSNP_126	91	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	TLR3	NM_003265.2		60,602,5841	TT,TC,CC		0.093,16.2052,5.5513		568/905	187004544	722,12284	2203	4300	6503	SO:0001819	synonymous_variant	7098	exon4			CCTTAACTTGGAG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1704C>T	4.37:g.187004544C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	109	45	0.412844	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																			C|0.949;T|0.051	0.051	strong		0.423	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			T	187004544	C	T	187004544	2	4	22	1	0	0	0	0	0	0	0	1	15949	564	20	2		2	TLR3	4	187004544	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	430727	187004544	4149732	2843	7951										
FAM149A	25854	hgsc.bcm.edu	37	chr4	187078819	187078819	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccagtggccccccgtcCggacacgccgaggctcacgg	15	17	1	0	rs2276923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187078819C>G	ENST00000356371.5	+	8	1548	c.1548C>G	c.(1546-1548)tcC>tcG	p.S516S	FAM149A_ENST00000503432.1_Silent_p.S225S|FAM149A_ENST00000502970.1_Silent_p.S225S|FAM149A_ENST00000227065.4_Silent_p.S225S|FAM149A_ENST00000514153.1_Silent_p.S225S|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.S225S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	516										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCCCCCCGTCCGGACACGCCG	0.587													C|||	917	0.183107	0.1929	0.2421	5008	,	,		17100	0.2024		0.1501	False		,,,				2504	0.1421				p.S225S		Atlas-SNP	.											.	FAM149A	52	.	0			c.C675G						PASS	.	C	,	835,3571	328.5+/-300.6	70,695,1438	63	68	66		675,675	0.9	0.7	4	dbSNP_100	66	1231,7369	244.9+/-273.9	91,1049,3160	no	coding-synonymous,coding-synonymous	FAM149A	NM_001006655.2,NM_015398.2	,	161,1744,4598	GG,GC,CC		14.314,18.9514,15.885	,	225/483,225/483	187078819	2066,10940	2203	4300	6503	SO:0001819	synonymous_variant	25854	exon7			CCCGTCCGGACAC	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1548C>G	4.37:g.187078819C>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	60	24	0.4	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37																																																																																				C|0.839;G|0.161	0.161	strong		0.587	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		G	187078819	C	G	187078819	2	3	22	1	0	0	0	0	0	0	0	1	5455	639	23	4		4	FAM149A	4	187078819	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74275	187078819	4075457	2844	7952										
FAM149A	25854	hgsc.bcm.edu	37	chr4	187088170	187088170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgagtgccatgcctgacGgtacagaacgatcgcgtctt	12	10	1	3	rs141044925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187088170G>A	ENST00000356371.5	+	12	2086	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S	FAM149A_ENST00000503432.1_Missense_Mutation_p.G405S|FAM149A_ENST00000227065.4_Missense_Mutation_p.G405S|FAM149A_ENST00000502970.1_Missense_Mutation_p.G405S|FAM149A_ENST00000514153.1_Missense_Mutation_p.G405S|FAM149A_ENST00000389354.5_Missense_Mutation_p.G405S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	696										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CATGCCTGACGGTACAGAACG	0.468													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0				p.G405S		Atlas-SNP	.											.	FAM149A	52	.	0			c.G1213A						PASS	.	G	SER/GLY,SER/GLY	64,4342	59.3+/-96.0	0,64,2139	91	85	87		1213,1213	-3.5	0	4	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	56,56	0,66,6437	AA,AG,GG		0.0233,1.4526,0.5075	benign,benign	405/483,405/483	187088170	66,12940	2203	4300	6503	SO:0001583	missense	25854	exon11			CCTGACGGTACAG	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2086G>A	4.37:g.187088170G>A	ENSP00000348732:p.Gly696Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	129	51	0.395349	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		9|9	0.004120879120879121|0.004120879120879121	8|8	0.016260162601626018|0.016260162601626018	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	2.916|2.916	-0.224222|-0.224222	0.06061|0.06061	0.014526|0.014526	2.33E-4|2.33E-4	ENSG00000109794|ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354|ENST00000512271	T;T;T;T;T;T|.	0.10005|.	2.92;2.94;2.92;2.92;2.92;2.92|.	5.72|5.72	-3.45|-3.45	0.04781|0.04781	.|.	0.347222|.	0.34268|.	N|.	0.004119|.	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.00500|0.00500	-1.43|-1.43	0.09310|0.09310	N|N	1|1	B;B|.	0.28880|.	0.226;0.085|.	B;B|.	0.16722|.	0.016;0.007|.	T|T	0.35895|0.35895	-0.9770|-0.9770	10|5	0.05620|.	T|.	0.96|.	-2.9758|-2.9758	1.239|1.239	0.01959|0.01959	0.3995:0.2553:0.2218:0.1234|0.3995:0.2553:0.2218:0.1234	.|.	696;696|.	A5PLN7-3;A5PLN7|.	.;F149A_HUMAN|.	S|Q	405;696;405;405;405;405|82	ENSP00000426835:G405S;ENSP00000348732:G696S;ENSP00000227065:G405S;ENSP00000427155:G405S;ENSP00000424380:G405S;ENSP00000374005:G405S|.	ENSP00000227065:G405S|.	G|R	+|+	1|2	0|0	FAM149A|FAM149A	187325164|187325164	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	0.194000|0.194000	0.17135|0.17135	-0.400000|-0.400000	0.07656|0.07656	-0.469000|-0.469000	0.05056|0.05056	GGT|CGG	G|0.995;A|0.005	0.005	strong		0.468	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		A	187088170	G	A	187088170	3	1	22	1	0	0	0	0	1	0	0	0	5455	1116	39	1	1247	1	FAM149A	4	187088170	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9351	187088170	4066106	2845	7953										
F11	2160	hgsc.bcm.edu	37	chr4	187209702	187209702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtgctcaaagggagcgGccaggtgtttacaccaacgt	14	10	1	0	rs5971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187209702G>T	ENST00000403665.2	+	15	2164	c.1812G>T	c.(1810-1812)cgG>cgT	p.R604R	F11_ENST00000264692.4_Silent_p.R552R|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	604	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R604R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAAGGGAGCGGCCAGGTGTTT	0.567													G|||	448	0.0894569	0.1445	0.0677	5008	,	,		19283	0.0843		0.0537	False		,,,				2504	0.0726				p.R604R		Atlas-SNP	.											F11,NS,carcinoma,0,1	F11	65	1	1	Substitution - coding silent(1)	stomach(1)	c.G1812T						PASS	.	G		544,3862	245.6+/-254.5	39,466,1698	148	142	144		1812	-2.5	0.1	4	dbSNP_52	144	398,8202	127.3+/-185.7	14,370,3916	no	coding-synonymous	F11	NM_000128.3		53,836,5614	TT,TG,GG		4.6279,12.3468,7.2428		604/626	187209702	942,12064	2203	4300	6503	SO:0001819	synonymous_variant	2160	exon15			GGAGCGGCCAGGT	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1812G>T	4.37:g.187209702G>T		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	283	148	0.522968	NM_000128	D3DP64|Q4W5C2|Q9Y495	Silent	SNP	ENST00000403665.2	37	CCDS3847.1	191	0.08745421245421245	73	0.1483739837398374	24	0.06629834254143646	51	0.08916083916083917	43	0.05672823218997362	G	11.86	1.765587	0.31228	0.123468	0.046279	ENSG00000088926	ENST00000264691	.	.	.	5.05	-2.53	0.06326	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.09310	P	0.999999655879	.	.	.	.	.	.	T	0.21177	-1.0253	3	.	.	.	.	3.3473	0.07140	0.3787:0.0991:0.4209:0.1012	rs5971;rs60887226;rs5971	.	.	.	V	138	.	.	G	+	2	0	F11	187446696	0.000000	0.05858	0.086000	0.20670	0.980000	0.70556	-1.510000	0.02262	-0.335000	0.08451	0.549000	0.68633	GGC	G|0.914;T|0.086	0.086	strong		0.567	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			T	187209702	G	T	187209702	2	4	22	1	0	0	0	0	0	0	0	1	5337	1190	42	4		4	F11	4	187209702	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121532	187209702	3944574	2846	7954										
FAT1	2195	hgsc.bcm.edu	37	chr4	187524176	187524176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagccatggtggacaggtGggcaccttccctcttcattc	10	14	2	0	rs200262460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187524176G>A	ENST00000441802.2	-	20	11572	c.11363C>T	c.(11362-11364)cCa>cTa	p.P3788L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3788					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGACAGGTGGGCACCTTCC	0.493										HNSCC(5;0.00058)			G|||	4	0.000798722	0.003	0.0	5008	,	,		18565	0.0		0.0	False		,,,				2504	0.0				p.P3788L	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.C11363T						PASS	.	G	LEU/PRO	4,3954		0,4,1975	88	88	88		11363	5.3	1	4	dbSNP_134	88	0,8326		0,0,4163	yes	missense	FAT1	NM_005245.3	98	0,4,6138	AA,AG,GG		0.0,0.1011,0.0326	benign	3788/4589	187524176	4,12280	1979	4163	6142	SO:0001583	missense	2195	exon20			ACAGGTGGGCACC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11363C>T	4.37:g.187524176G>A	ENSP00000406229:p.Pro3788Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	123	71	0.577236	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.22	2.170718	0.38315	0.001011	0.0	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.32023	1.47	5.26	5.26	0.73747	.	0.056195	0.64402	D	0.000001	T	0.32823	0.0842	L	0.58428	1.81	0.80722	D	1	B	0.30686	0.29	B	0.25759	0.063	T	0.07252	-1.0782	10	0.32370	T	0.25	.	19.2203	0.93793	0.0:0.0:1.0:0.0	.	3788	Q14517	FAT1_HUMAN	L	3788;3790	ENSP00000406229:P3788L	ENSP00000260147:P3790L	P	-	2	0	FAT1	187761170	1.000000	0.71417	0.956000	0.39512	0.080000	0.17528	9.111000	0.94308	2.614000	0.88457	0.557000	0.71058	CCA	G|1.000;A|0.000	0.000	strong		0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187524176	G	A	187524176	3	1	22	1	0	0	0	0	1	0	0	0	5689	1348	47	2	2435	2	FAT1	4	187524176	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	314474	187524176	3630100	2847	7955										
FAT1	2195	hgsc.bcm.edu	37	chr4	187542356	187542356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttatcagcatcagctgctCgaatcaccagtgggacattc	8	12	3	0	rs56790426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187542356C>T	ENST00000441802.2	-	10	5593	c.5384G>A	c.(5383-5385)cGa>cAa	p.R1795Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCAGCTGCTCGAATCACCAG	0.423										HNSCC(5;0.00058)			C|||	44	0.00878594	0.0325	0.0014	5008	,	,		22564	0.0		0.0	False		,,,				2504	0.0				p.R1795Q	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.G5384A						PASS	.	C	GLN/ARG	81,3883		1,79,1902	89	85	87		5384	4.7	1	4	dbSNP_129	87	1,8327		0,1,4163	yes	missense	FAT1	NM_005245.3	43	1,80,6065	TT,TC,CC		0.012,2.0434,0.6671	benign	1795/4589	187542356	82,12210	1982	4164	6146	SO:0001583	missense	2195	exon10			GCTGCTCGAATCA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5384G>A	4.37:g.187542356C>T	ENSP00000406229:p.Arg1795Gln	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	150	71	0.473333	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	8.328	0.825754	0.16749	0.020434	1.2E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.5	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.122272	0.56097	D	0.000036	T	0.00815	0.0027	N	0.25825	0.765	0.53005	D	0.999965	B	0.25007	0.116	B	0.23018	0.043	T	0.62586	-0.6823	10	0.21014	T	0.42	.	11.7859	0.52043	0.0:0.8082:0.1241:0.0676	rs56790426	1795	Q14517	FAT1_HUMAN	Q	1795;1797	ENSP00000406229:R1795Q	ENSP00000260147:R1797Q	R	-	2	0	FAT1	187779350	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	2.438000	0.44837	1.556000	0.49512	-0.150000	0.13652	CGA	C|0.993;T|0.007	0.007	strong		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187542356	C	T	187542356	3	4	22	1	0	0	0	0	1	0	0	0	5689	884	31	1	8454	1	FAT1	4	187542356	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18180	187542356	3611920	2848	7956										
FAT1	2195	hgsc.bcm.edu	37	chr4	187542432	187542432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcactaatgagtcctgtatAttctgcctgcataaaaactg	6	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187542432A>G	ENST00000441802.2	-	10	5517	c.5308T>C	c.(5308-5310)Tat>Cat	p.Y1770H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1770	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCTGTATATTCTGCCTGC	0.443										HNSCC(5;0.00058)																											p.Y1770H	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.T5308C						PASS	.						106	99	101					4																	187542432		1947	4150	6097	SO:0001583	missense	2195	exon10			CTGTATATTCTGC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5308T>C	4.37:g.187542432A>G	ENSP00000406229:p.Tyr1770His	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	264	125	0.473485	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471201	0.43942	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.66638	-0.22	5.5	5.5	0.81552	Cadherin (2);Cadherin-like (1);	0.055265	0.85682	D	0.000000	D	0.85517	0.5715	H	0.94542	3.55	0.58432	D	0.999999	D	0.67145	0.996	D	0.63381	0.914	D	0.89615	0.3844	10	0.72032	D	0.01	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	1770	Q14517	FAT1_HUMAN	H	1770;1772	ENSP00000406229:Y1770H	ENSP00000260147:Y1772H	Y	-	1	0	FAT1	187779426	1.000000	0.71417	0.279000	0.24732	0.057000	0.15508	9.139000	0.94554	2.308000	0.77769	0.533000	0.62120	TAT	.	.	none		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187542432	A	G	187542432	3	3	22	1	0	0	0	0	1	0	0	0	5689	449	16	2	8530	2	FAT1	4	187542432	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76	187542432	3611844	2849	7957										
FAT1	2195	hgsc.bcm.edu	37	chr4	187557863	187557863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaggagatttctgcattgGggccctcatccttgtcggtg	13	9	2	1	rs60068521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:187557863G>A	ENST00000441802.2	-	5	4057	c.3848C>T	c.(3847-3849)cCc>cTc	p.P1283L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1283	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTGCATTGGGGCCCTCATC	0.502										HNSCC(5;0.00058)			G|||	6	0.00119808	0.0045	0.0	5008	,	,		15954	0.0		0.0	False		,,,				2504	0.0				p.P1283L	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.C3848T						PASS	.	G	LEU/PRO	4,3800		0,4,1898	224	226	225		3848	5	1	4	dbSNP_129	225	0,8238		0,0,4119	yes	missense	FAT1	NM_005245.3	98	0,4,6017	AA,AG,GG		0.0,0.1052,0.0332	benign	1283/4589	187557863	4,12038	1902	4119	6021	SO:0001583	missense	2195	exon5			GCATTGGGGCCCT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3848C>T	4.37:g.187557863G>A	ENSP00000406229:p.Pro1283Leu	Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	300	155	0.516667	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.34	2.804208	0.50315	0.001052	0.0	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54071	0.59	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.172618	0.52532	D	0.000077	T	0.61999	0.2392	L	0.41415	1.275	0.80722	D	1	D	0.67145	0.996	D	0.63957	0.92	T	0.54906	-0.8223	10	0.22109	T	0.4	.	18.4667	0.90758	0.0:0.0:1.0:0.0	rs60068521	1283	Q14517	FAT1_HUMAN	L	1283	ENSP00000406229:P1283L	ENSP00000260147:P1283L	P	-	2	0	FAT1	187794857	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.657000	0.98554	2.599000	0.87857	0.561000	0.74099	CCC	G|0.999;A|0.001	0.001	strong		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187557863	G	A	187557863	3	1	22	1	0	0	0	0	1	0	0	0	5689	1232	43	2	10010	2	FAT1	4	187557863	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15431	187557863	3596413	2850	7958										
ZFP42	132625	hgsc.bcm.edu	37	chr4	188924450	188924450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacctggcattgacctatcAgatcctaaacagctcgcaga	7	12	1	3	rs61731386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:188924450A>G	ENST00000326866.4	+	4	897	c.489A>G	c.(487-489)tcA>tcG	p.S163S	ZFP42_ENST00000509524.1_Silent_p.S163S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	163					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTGACCTATCAGATCCTAAAC	0.453													A|||	187	0.0373403	0.1362	0.0086	5008	,	,		17571	0.0		0.001	False		,,,				2504	0.0				p.S163S		Atlas-SNP	.											.	ZFP42	87	.	0			c.A489G						PASS	.	A		449,3957	202.5+/-225.2	25,399,1779	103	116	112		489	-1.9	0	4	dbSNP_129	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZFP42	NM_174900.3		25,401,6077	GG,GA,AA		0.0233,10.1906,3.4676		163/311	188924450	451,12555	2203	4300	6503	SO:0001819	synonymous_variant	132625	exon4			CCTATCAGATCCT	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.489A>G	4.37:g.188924450A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	60	37	0.616667	NM_174900	D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	CCDS3849.1																																																																																			A|0.972;G|0.028	0.028	strong		0.453	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		G	188924450	A	G	188924450	2	3	22	1	0	0	0	0	0	0	0	1	17647	175	7	3		3	ZFP42	4	188924450	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1366587	188924450	2229826	2851	7959										
TRIML1	339976	hgsc.bcm.edu	37	chr4	189061010	189061010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctacgggaggatgcccAccactgccaaggcgctctcc	12	16	1	0	rs111308948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr4:189061010A>G	ENST00000332517.3	+	1	438	c.298A>G	c.(298-300)Acc>Gcc	p.T100A	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	100					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGGATGCCCACCACTGCCAA	0.647													G|||	203	0.0405351	0.1445	0.0159	5008	,	,		18008	0.0		0.001	False		,,,				2504	0.0				p.T100A	Melanoma(31;213 1036 16579 23968 32372)	Atlas-SNP	.											.	TRIML1	126	.	0			c.A298G						PASS	.	G	ALA/THR	538,3868	767.9+/-413.5	40,458,1705	41	40	41		298	3.3	0	4	dbSNP_132	41	0,8600		0,0,4300	yes	missense	TRIML1	NM_178556.3	58	40,458,6005	GG,GA,AA		0.0,12.2106,4.1366	benign	100/469	189061010	538,12468	2203	4300	6503	SO:0001583	missense	339976	exon1			ATGCCCACCACTG	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.298A>G	4.37:g.189061010A>G	ENSP00000327738:p.Thr100Ala	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	156	73	0.467949	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	78	0.03571428571428571	71	0.1443089430894309	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	G	0.714	-0.786047	0.02907	0.122106	0.0	ENSG00000184108	ENST00000332517	T	0.61040	0.14	5.06	3.27	0.37495	.	0.559255	0.16346	N	0.218439	T	0.00144	0.0004	N	0.00347	-1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05649	-1.0872	9	0.42905	T	0.14	-6.5562	4.0011	0.09580	0.191:0.0:0.6206:0.1884	.	100	Q8N9V2	TRIML_HUMAN	A	100	ENSP00000327738:T100A	ENSP00000327738:T100A	T	+	1	0	TRIML1	189298004	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.371000	0.20450	0.776000	0.33473	-0.215000	0.12644	ACC	A|0.962;G|0.038	0.038	strong		0.647	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		G	189061010	A	G	189061010	3	3	22	1	0	0	0	0	1	0	0	0	16547	159	6	2	300	2	TRIML1	4	189061010	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	136560	189061010	2093266	2852	7960										
PLEKHG4B	153478	hgsc.bcm.edu	37	chr5	143359	143359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgctgcagtccggggtcGtcaccctcccaggtgagagc	14	14	1	1	rs114876243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:143359G>A	ENST00000283426.6	+	2	657	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	203							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)		GTCCGGGGTCGTCACCCTCCC	0.637													G|||	85	0.0169728	0.0643	0.0	5008	,	,		19147	0.0		0.0	False		,,,				2504	0.0				p.V203I		Atlas-SNP	.											.	PLEKHG4B	167	.	0			c.G607A						PASS	.	G	ILE/VAL	217,4189		9,199,1995	34	39	37		607	-3.8	0	5	dbSNP_132	37	3,8589		0,3,4293	yes	missense	PLEKHG4B	NM_052909.3	29	9,202,6288	AA,AG,GG		0.0349,4.9251,1.6926	benign	203/1272	143359	220,12778	2203	4296	6499	SO:0001583	missense	153478	exon2			GGGGTCGTCACCC	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.607G>A	5.37:g.143359G>A	ENSP00000283426:p.Val203Ile	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	49	24	0.489796	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	.	0.015	-1.543641	0.00934	0.049251	3.49E-4	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.18174	2.23;2.23	2.87	-3.76	0.04359	.	.	.	.	.	T	0.00754	0.0025	N	0.04090	-0.28	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.38308	-0.9667	9	0.05620	T	0.96	.	7.5065	0.27547	0.5943:0.0:0.4057:0.0	.	203	Q96PX9	PKH4B_HUMAN	I	203;117	ENSP00000283426:V203I;ENSP00000422493:V117I	ENSP00000283426:V203I	V	+	1	0	PLEKHG4B	196359	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.481000	0.06552	-0.665000	0.05317	-0.752000	0.03492	GTC	G|0.985;A|0.015	0.015	strong		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	143359	G	A	143359	3	1	22	1	0	0	0	0	1	0	0	0	12072	1145	40	1	613	1	PLEKHG4B	5	143359	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10		143359	180771901	2853	7961										
PLEKHG4B	153478	hgsc.bcm.edu	37	chr5	155059	155059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagctgaccgcagacctcGacggctcctttccctacagc	9	18	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:155059G>A	ENST00000283426.6	+	6	1044	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	332							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)		CGCAGACCTCGACGGCTCCTT	0.577																																					p.D332N		Atlas-SNP	.											PLEKHG4B_ENST00000283426,NS,carcinoma,-2,2	PLEKHG4B	167	2	0			c.G994A						scavenged	.						86	77	80					5																	155059		2203	4300	6503	SO:0001583	missense	153478	exon6			GACCTCGACGGCT	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.994G>A	5.37:g.155059G>A	ENSP00000283426:p.Asp332Asn	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	71	3	0.0422535	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.394085	0.25205	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.59083	0.29;0.29	3.88	3.01	0.34805	.	.	.	.	.	T	0.66015	0.2747	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.53961	-0.8364	9	0.62326	D	0.03	.	7.3764	0.26831	0.126:0.0:0.874:0.0	.	332	Q96PX9	PKH4B_HUMAN	N	332;246	ENSP00000283426:D332N;ENSP00000422493:D246N	ENSP00000283426:D332N	D	+	1	0	PLEKHG4B	208059	1.000000	0.71417	0.000000	0.03702	0.106000	0.19336	4.161000	0.58170	0.623000	0.30267	0.460000	0.39030	GAC	.	.	none		0.577	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	155059	G	A	155059	3	1	22	1	0	0	0	0	1	0	0	0	12072	1058	37	1	1016	1	PLEKHG4B	5	155059	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11700	155059	180760201	2854	7962										
PLEKHG4B	153478	hgsc.bcm.edu	37	chr5	162929	162929	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaccaggaggctacctcGgtggctgcagaggccttccc	13	14	1	1	rs75342794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:162929G>C	ENST00000283426.6	+	11	1724	c.1674G>C	c.(1672-1674)tcG>tcC	p.S558S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	558							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)		AGGCTACCTCGGTGGCTGCAG	0.652													G|||	255	0.0509185	0.1838	0.0159	5008	,	,		15694	0.0		0.001	False		,,,				2504	0.0				p.S558S		Atlas-SNP	.											PLEKHG4B_ENST00000283426,NS,carcinoma,+2,1	PLEKHG4B	167	1	0			c.G1674C						PASS	.	G		691,3685		51,589,1548	25	27	26		1674	-1.1	0	5	dbSNP_131	26	13,8555		0,13,4271	no	coding-synonymous	PLEKHG4B	NM_052909.3		51,602,5819	CC,CG,GG		0.1517,15.7907,5.4388		558/1272	162929	704,12240	2188	4284	6472	SO:0001819	synonymous_variant	153478	exon11			TACCTCGGTGGCT	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.1674G>C	5.37:g.162929G>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	187	99	0.529412	NM_052909		Silent	SNP	ENST00000283426.6	37	CCDS34124.1																																																																																			G|0.941;C|0.059	0.059	strong		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		C	162929	G	C	162929	2	2	22	1	0	0	0	0	0	0	0	1	12072	1103	39	4		4	PLEKHG4B	5	162929	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7870	162929	180752331	2855	7963										
PLEKHG4B	153478	hgsc.bcm.edu	37	chr5	163205	163205	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggtgcctgggaacctgcGcaaccactgtccggcctccc	13	16	0	0	rs3810870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:163205G>C	ENST00000283426.6	+	11	2000	c.1950G>C	c.(1948-1950)gcG>gcC	p.A650A		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	650							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A650A(1)		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)		GGGAACCTGCGCAACCACTGT	0.677																																					p.A650A		Atlas-SNP	.											PLEKHG4B_ENST00000283426,NS,carcinoma,0,1	PLEKHG4B	167	1	1	Substitution - coding silent(1)	prostate(1)	c.G1950C						PASS	.	C		3210,1132		1209,792,170	11	11	11		1950	-0.2	0	5	dbSNP_107	11	5916,2618		2093,1730,444	no	coding-synonymous	PLEKHG4B	NM_052909.3		3302,2522,614	CC,CG,GG		30.6773,26.0709,29.124		650/1272	163205	9126,3750	2171	4267	6438	SO:0001819	synonymous_variant	153478	exon11			ACCTGCGCAACCA	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.1950G>C	5.37:g.163205G>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_052909		Silent	SNP	ENST00000283426.6	37	CCDS34124.1																																																																																			G|0.419;C|0.581	0.581	strong		0.677	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		C	163205	G	C	163205	2	2	22	1	0	0	0	0	0	0	0	1	12072	1074	38	4		4	PLEKHG4B	5	163205	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	276	163205	180752055	2856	7964										
PLEKHG4B	153478	hgsc.bcm.edu	37	chr5	163266	163266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaggacggggagaccctgCgcccagggctgtgtgctctg	17	12	1	1	rs3810867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:163266C>G	ENST00000283426.6	+	11	2061	c.2011C>G	c.(2011-2013)Cgc>Ggc	p.R671G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	671				R -> G (in Ref. 1; BAB67802). {ECO:0000305}.			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)		GGAGACCCTGCGCCCAGGGCT	0.697													G|||	1920	0.383387	0.4584	0.3184	5008	,	,		13760	0.1944		0.3817	False		,,,				2504	0.5245				p.R671G		Atlas-SNP	.											.	PLEKHG4B	167	.	0			c.C2011G						PASS	.	G	GLY/ARG	1908,2468		436,1036,716	12	14	13		2011	-4.4	0	5	dbSNP_107	13	3376,5192		688,2000,1596	yes	missense	PLEKHG4B	NM_052909.3	125	1124,3036,2312	GG,GC,CC		39.4024,43.6015,40.822	benign	671/1272	163266	5284,7660	2188	4284	6472	SO:0001583	missense	153478	exon11			ACCCTGCGCCCAG	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.2011C>G	5.37:g.163266C>G	ENSP00000283426:p.Arg671Gly	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	104	103	0.990385	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	677	0.309981684981685	200	0.4065040650406504	112	0.30939226519337015	103	0.18006993006993008	262	0.34564643799472294	G	0.008	-1.917018	0.00503	0.436015	0.394024	ENSG00000153404	ENST00000283426	T	0.28255	1.62	2.91	-4.41	0.03590	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46596	-0.9180	8	0.22109	T	0.4	.	5.3271	0.15913	0.4358:0.2652:0.2991:0.0	rs3810867;rs59972694	671	Q96PX9	PKH4B_HUMAN	G	671	ENSP00000283426:R671G	ENSP00000283426:R671G	R	+	1	0	PLEKHG4B	216266	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-1.042000	0.03539	-1.821000	0.01213	-1.407000	0.01130	CGC	C|0.689;G|0.311	0.311	strong		0.697	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		G	163266	C	G	163266	3	3	22	1	0	0	0	0	1	0	0	0	12072	768	27	4	2053	4	PLEKHG4B	5	163266	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61	163266	180751994	2857	7965										
LRRC14B	389257	hgsc.bcm.edu	37	chr5	195318	195318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgccgtgctgctgcgggcTgaccgagaggacatccaagt	15	12	0	2	rs6886707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:195318T>C	ENST00000328278.3	+	2	1423	c.1395T>C	c.(1393-1395)gcT>gcC	p.A465A	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	465										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGCTGCGGGCTGACCGAGAGG	0.552													C|||	945	0.188698	0.4955	0.1354	5008	,	,		18137	0.005		0.1352	False		,,,				2504	0.0562				p.A465A		Atlas-SNP	.											.	LRRC14B	30	.	0			c.T1395C						PASS	.	C		1805,2549		382,1041,754	111	122	119		1395	-4.5	0	5	dbSNP_116	119	1015,7543		74,867,3338	no	coding-synonymous	LRRC14B	NM_001080478.1		456,1908,4092	CC,CT,TT		11.8602,41.4561,21.8401		465/515	195318	2820,10092	2177	4279	6456	SO:0001819	synonymous_variant	389257	exon2			GCGGGCTGACCGA		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1395T>C	5.37:g.195318T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_001080478		Silent	SNP	ENST00000328278.3	37	CCDS47184.1																																																																																			T|0.847;C|0.153	0.153	strong		0.552	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		C	195318	T	C	195318	2	2	22	1	0	0	0	0	0	0	0	1	8969	1567	55	3		3	LRRC14B	5	195318	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32052	195318	180719942	2858	7966										
CCDC127	133957	hgsc.bcm.edu	37	chr5	205574	205574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaatatgtcggtgagaccGgctgccatctctaggtcagc	12	10	2	2	rs73730755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:205574G>A	ENST00000296824.3	-	3	753	c.621C>T	c.(619-621)gcC>gcT	p.A207A		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	207										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CGGTGAGACCGGCTGCCATCT	0.532													G|||	569	0.113618	0.4092	0.0317	5008	,	,		18402	0.0		0.004	False		,,,				2504	0.002				p.A207A		Atlas-SNP	.											CCDC127,NS,carcinoma,-2,2	CCDC127	27	2	0			c.C621T						PASS	.	G		1427,2979	464.9+/-354.0	232,963,1008	85	80	82		621	-1.5	0.1	5	dbSNP_130	82	30,8570	19.2+/-60.6	0,30,4270	no	coding-synonymous	CCDC127	NM_145265.2		232,993,5278	AA,AG,GG		0.3488,32.3877,11.2025		207/261	205574	1457,11549	2203	4300	6503	SO:0001819	synonymous_variant	133957	exon3			GAGACCGGCTGCC	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.621C>T	5.37:g.205574G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_145265		Silent	SNP	ENST00000296824.3	37	CCDS3852.1																																																																																			G|0.900;A|0.100	0.100	strong		0.532	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		A	205574	G	A	205574	2	1	22	1	0	0	0	0	0	0	0	1	2763	1103	39	1		1	CCDC127	5	205574	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10256	205574	180709686	2859	7967										
AHRR	57491	hgsc.bcm.edu	37	chr5	376809	376809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgcagggtctgccgtgcTggagggaaggctgctgttgg	18	8	2	0	rs35008248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:376809T>C	ENST00000505113.1	+	4	385	c.341T>C	c.(340-342)cTg>cCg	p.L114P	AHRR_ENST00000316418.5_Missense_Mutation_p.L114P|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	114	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.		L -> P (in dbSNP:rs35008248). {ECO:0000269|PubMed:11835227}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCTGCCGTGCTGGAGGGAAGG	0.617													T|||	614	0.122604	0.444	0.0331	5008	,	,		18715	0.0		0.004	False		,,,				2504	0.0				p.L114P		Atlas-SNP	.											.	AHRR	67	.	0			c.T341C						PASS	.	T	PRO/LEU,PRO/LEU	1466,2816		247,972,922	34	40	38		341,341	-0.2	1	5	dbSNP_126	38	40,8474		0,40,4217	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	98,98	247,1012,5139	CC,CT,TT		0.4698,34.2363,11.7693	benign,benign	114/702,114/720	376809	1506,11290	2141	4257	6398	SO:0001583	missense	57491	exon4			CCGTGCTGGAGGG	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.341T>C	5.37:g.376809T>C	ENSP00000424601:p.Leu114Pro	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_001242412	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	CCDS56355.1	205	0.09386446886446886	194	0.3943089430894309	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	T	7.400	0.632654	0.14322	0.342363	0.004698	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400	T;T;T	0.47528	2.17;2.15;0.84	2.95	-0.189	0.13260	PAS (1);	0.720518	0.13147	N	0.410200	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	P	0.99999999565809	B;B	0.17038	0.02;0.02	B;B	0.17098	0.017;0.012	T	0.46062	-0.9218	9	0.27785	T	0.31	.	5.7545	0.18164	0.5628:0.0:0.0:0.4372	rs35008248;rs57297657	114;114	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	P	114;114;110	ENSP00000424601:L114P;ENSP00000323816:L114P;ENSP00000428893:L110P	ENSP00000323816:L114P	L	+	2	0	AHRR	429809	0.996000	0.38824	0.997000	0.53966	0.850000	0.48378	-0.134000	0.10436	-0.033000	0.13736	0.533000	0.62120	CTG	T|0.914;C|0.086	0.086	strong		0.617	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		C	376809	T	C	376809	3	2	22	1	0	0	0	0	1	0	0	0	417	1580	55	3	355	3	AHRR	5	376809	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	171235	376809	180538451	2860	7968										
AHRR	57491	hgsc.bcm.edu	37	chr5	433056	433056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccttgaccccaagggggGctcagggtaagtggtgccag	16	10	1	1	rs2303738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:433056G>T	ENST00000505113.1	+	10	1162	c.1118G>T	c.(1117-1119)gGc>gTc	p.G373V	AHRR_ENST00000506456.1_Missense_Mutation_p.G229V|AHRR_ENST00000512529.1_Missense_Mutation_p.G219V|AHRR_ENST00000316418.5_Missense_Mutation_p.G391V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	373			G -> V (in dbSNP:rs2303738).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCCAAGGGGGGCTCAGGGTAA	0.647													G|||	173	0.0345447	0.053	0.0692	5008	,	,		16409	0.0208		0.0119	False		,,,				2504	0.0225				p.G391V		Atlas-SNP	.											.	AHRR	67	.	0			c.G1172T						PASS	.	G	VAL/GLY,VAL/GLY	146,3678		4,138,1770	13	14	14		1118,1172	-0.8	0	5	dbSNP_100	14	105,8089		0,105,3992	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	109,109	4,243,5762	TT,TG,GG		1.2814,3.818,2.0885	benign,benign	373/702,391/720	433056	251,11767	1912	4097	6009	SO:0001583	missense	57491	exon11			AGGGGGGCTCAGG	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1118G>T	5.37:g.433056G>T	ENSP00000424601:p.Gly373Val	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_020731	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	CCDS56355.1	74	0.03388278388278388	27	0.054878048780487805	22	0.06077348066298342	15	0.026223776223776224	10	0.013192612137203167	G	5.002	0.186029	0.09495	0.03818	0.012814	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.21031	2.35;2.35;2.04;2.03	4.46	-0.839	0.10759	.	1.832210	0.02893	N	0.134457	T	0.00998	0.0033	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.24083	-1.0170	10	0.44086	T	0.13	.	4.6987	0.12816	0.0:0.4127:0.3069:0.2804	rs2303738;rs2303738	229;373;391	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	373;391;219;229	ENSP00000424601:G373V;ENSP00000323816:G391V;ENSP00000424880:G219V;ENSP00000426932:G229V	ENSP00000323816:G391V	G	+	2	0	AHRR	486056	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	-0.284000	0.09102	-0.281000	0.10026	GGC	G|0.971;T|0.029	0.029	strong		0.647	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		T	433056	G	T	433056	3	4	22	1	0	0	0	0	1	0	0	0	417	1203	42	4	1214	4	AHRR	5	433056	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56247	433056	180482204	2861	7969										
C5orf55	116349	hgsc.bcm.edu	37	chr5	442675	442675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccggaaacatccggtggCcacccatcccactggcattg	10	17	0	0	rs139173233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:442675C>T	ENST00000408966.2	-	1	583	c.263G>A	c.(262-264)gGc>gAc	p.G88D	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	88						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CATCCGGTGGCCACCCATCCC	0.642													C|||	210	0.0419329	0.059	0.0764	5008	,	,		16381	0.0198		0.0219	False		,,,				2504	0.0378				p.G88D		Atlas-SNP	.											.	C5orf55	11	.	0			c.G263A						PASS	.	C	ASP/GLY	173,3641		6,161,1740	75	82	80		263	0.9	0	5	dbSNP_134	80	188,8056		1,186,3935	yes	missense	C5orf55	NM_138464.2	94	7,347,5675	TT,TC,CC		2.2804,4.5359,2.9939	probably-damaging	88/120	442675	361,11697	1907	4122	6029	SO:0001583	missense	116349	exon1			CGGTGGCCACCCA	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.263G>A	5.37:g.442675C>T	ENSP00000386139:p.Gly88Asp	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	47	29	0.617021	NM_138464	Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	CCDS43298.1	82	0.037545787545787544	28	0.056910569105691054	26	0.0718232044198895	13	0.022727272727272728	15	0.01978891820580475	C	7.570	0.666493	0.14710	0.045359	0.022804	ENSG00000221990	ENST00000408966	T	0.46819	0.86	0.849	0.849	0.18972	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.46275	0.51	T	0.02966	-1.1088	9	0.87932	D	0	.	4.9993	0.14257	0.0:1.0:0.0:0.0	.	88	Q8N2X6	CE055_HUMAN	D	88	ENSP00000386139:G88D	ENSP00000386139:G88D	G	-	2	0	C5orf55	495675	0.001000	0.12720	0.001000	0.08648	0.053000	0.15095	0.039000	0.13884	0.745000	0.32763	0.205000	0.17691	GGC	C|0.966;T|0.034	0.034	strong		0.642	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		T	442675	C	T	442675	3	4	22	1	0	0	0	0	1	0	0	0	2311	739	26	2	100	2	C5orf55	5	442675	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9619	442675	180472585	2862	7970										
EXOC3	11336	hgsc.bcm.edu	37	chr5	453583	453583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagtgctcccgggacgggCtgatgtacgagcagtaccgc	16	11	0	1	rs6871053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:453583C>T	ENST00000512944.1	+	4	652	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	EXOC3_ENST00000315013.5_Silent_p.L155L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	166					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCGGGACGGGCTGATGTACGA	0.597													C|||	175	0.0349441	0.0575	0.0706	5008	,	,		20983	0.0188		0.0129	False		,,,				2504	0.0184				p.L155L		Atlas-SNP	.											.	EXOC3	54	.	0			c.C463T						PASS	.	C		180,3944		7,166,1889	41	42	41		463	4.5	1	5	dbSNP_116	41	114,8266		0,114,4076	no	coding-synonymous	EXOC3	NM_007277.4		7,280,5965	TT,TC,CC		1.3604,4.3647,2.3512		155/746	453583	294,12210	2062	4190	6252	SO:0001819	synonymous_variant	11336	exon4			GACGGGCTGATGT	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.463C>T	5.37:g.453583C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	147	76	0.517007	NM_007277	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	CCDS54830.1																																																																																			C|0.972;T|0.028	0.028	strong		0.597	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		T	453583	C	T	453583	2	4	22	1	0	0	0	0	0	0	0	1	5303	796	28	2		2	EXOC3	5	453583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10908	453583	180461677	2863	7971										
SLC9A3	6550	hgsc.bcm.edu	37	chr5	476353	476353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccgcttgtacagcttggcCgccttcttgttctggttgag	11	12	2	1	rs2230437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:476353C>T	ENST00000264938.3	-	13	2040	c.2031G>A	c.(2029-2031)gcG>gcA	p.A677A	CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.A668A|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	677					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.A677A(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACAGCTTGGCCGCCTTCTTGT	0.642													C|||	1062	0.212061	0.1377	0.3112	5008	,	,		16387	0.0347		0.4115	False		,,,				2504	0.2198				p.A677A		Atlas-SNP	.											SLC9A3,NS,carcinoma,0,1	SLC9A3	89	1	1	Substitution - coding silent(1)	prostate(1)	c.G2031A						PASS	.	C		788,3616	316.3+/-294.6	73,642,1487	61	60	61		2031	-9.5	0	5	dbSNP_98	61	3384,5216	499.2+/-374.9	689,2006,1605	no	coding-synonymous	SLC9A3	NM_004174.2		762,2648,3092	TT,TC,CC		39.3488,17.8928,32.0824		677/835	476353	4172,8832	2202	4300	6502	SO:0001819	synonymous_variant	6550	exon13			CTTGGCCGCCTTC		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2031G>A	5.37:g.476353C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	81	80	0.987654	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			C|0.706;T|0.294	0.294	strong		0.642	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	476353	C	T	476353	2	4	22	1	0	0	0	0	0	0	0	1	14713	639	23	1		1	SLC9A3	5	476353	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22770	476353	180438907	2864	7972										
SLC9A3	6550	hgsc.bcm.edu	37	chr5	491906	491906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgagcccactgaggaagacGccgtagagggacagcccggt	15	11	0	4	rs6870920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:491906G>A	ENST00000264938.3	-	2	501	c.492C>T	c.(490-492)ggC>ggT	p.G164G	SLC9A3_ENST00000514375.1_Silent_p.G164G	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	164					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAGGAAGACGCCGTAGAGGG	0.672													G|||	181	0.0361422	0.1301	0.0101	5008	,	,		11795	0.0		0.002	False		,,,				2504	0.0				p.G164G		Atlas-SNP	.											SLC9A3,head_neck,malignant_melanoma,-1,1	SLC9A3	89	1	0			c.C492T						PASS	.	G		407,3969		28,351,1809	27	20	22		492	-8.3	0.5	5	dbSNP_116	22	11,8555		0,11,4272	no	coding-synonymous	SLC9A3	NM_004174.2		28,362,6081	AA,AG,GG		0.1284,9.3007,3.2298		164/835	491906	418,12524	2188	4283	6471	SO:0001819	synonymous_variant	6550	exon2			GAAGACGCCGTAG		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.492C>T	5.37:g.491906G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			G|0.958;A|0.042	0.042	strong		0.672	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	491906	G	A	491906	2	1	22	1	0	0	0	0	0	0	0	1	14713	1074	38	1		1	SLC9A3	5	491906	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15553	491906	180423354	2865	7973										
TPPP	11076	hgsc.bcm.edu	37	chr5	665280	665280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtagccggacacatagccTgactcgtccaccagatccac	8	15	0	2	rs1697963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:665280T>C	ENST00000360578.5	-	4	718	c.597A>G	c.(595-597)tcA>tcG	p.S199S	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_Intron	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	199					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		ACACATAGCCTGACTCGTCCA	0.657													t|||	3613	0.721446	0.9266	0.6988	5008	,	,		18015	0.6915		0.6064	False		,,,				2504	0.6094				p.S199S		Atlas-SNP	.											TPPP,caecum,carcinoma,0,1	TPPP	24	1	0			c.A597G						PASS	.	C		3915,491	780.6+/-414.4	1734,447,22	88	78	82		597	-10.2	0.1	5	dbSNP_89	82	5212,3388	640.3+/-399.6	1582,2048,670	no	coding-synonymous	TPPP	NM_007030.2		3316,2495,692	CC,CT,TT		39.3953,11.1439,29.8247		199/220	665280	9127,3879	2203	4300	6503	SO:0001819	synonymous_variant	11076	exon4			ATAGCCTGACTCG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.597A>G	5.37:g.665280T>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	112	53	0.473214	NM_007030		Silent	SNP	ENST00000360578.5	37	CCDS3856.1																																																																																			T|0.288;C|0.712	0.712	strong		0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		C	665280	T	C	665280	2	2	22	1	0	0	0	0	0	0	0	1	16410	1567	55	3		3	TPPP	5	665280	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173374	665280	180249980	2866	7974										
ZDHHC11	79844	hgsc.bcm.edu	37	chr5	825280	825280	+	Splice_Site	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggtgactgcaacttaccCgtgccgtcgaatccccatcc					rs1809008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:825280C>T	ENST00000283441.8	-	8	1405	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	ZDHHC11_ENST00000424784.2_Splice_Site_p.R341Q|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	341			R -> Q (in dbSNP:rs1809008).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAACTTACCCGTGCCGTCGA	0.537													c|||	1874	0.374201	0.6422	0.3386	5008	,	,		27210	0.4127		0.1541	False		,,,				2504	0.2239				p.R341Q		Atlas-SNP	.											.	ZDHHC11	97	.	0			c.G1022A						PASS	.	C	GLN/ARG	2381,2025		580,1221,402	159	115	130		1022	-0.3	0	5	dbSNP_92	130	854,7732		60,734,3499	yes	missense-near-splice	ZDHHC11	NM_024786.2	43	640,1955,3901	TT,TC,CC		9.9464,45.9601,24.8999	benign	341/413	825280	3235,9757	2203	4293	6496	SO:0001630	splice_region_variant	79844	exon8			CTTACCCGTGCCG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1023+1G>A	5.37:g.825280C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	208	208	1	NM_024786	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	688	0.315018315018315	298	0.6056910569105691	93	0.2569060773480663	234	0.4090909090909091	63	0.08311345646437995	N	1.075	-0.668841	0.03403	0.540399	0.099464	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.28069	1.63;1.63	0.131	-0.261	0.12963	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.43180	-0.9407	7	0.10902	T	0.67	.	.	.	.	rs1809008;rs61386472	341	Q9H8X9	ZDH11_HUMAN	Q	341	ENSP00000397719:R341Q;ENSP00000283441:R341Q	ENSP00000283441:R341Q	R	-	2	0	ZDHHC11	878280	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.384000	0.07389	-1.204000	0.02648	-1.197000	0.01672	CGG	C|0.724;T|0.276	0.276	strong		0.537	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	Missense_Mutation	T	825280	C	T	825280	5	4	22	1	0	0	0	0	0	0	1	0	17598	666	23	1	236	1	ZDHHC11	5	825280	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	160000	825280	180089980	2867	7975	152	2								
ZDHHC11	79844	hgsc.bcm.edu	37	chr5	825286	825286	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgcaacttacccgtgccGtcgaatccccatcctggttt					rs2335585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:825286G>T	ENST00000283441.8	-	8	1399	c.1016C>A	c.(1015-1017)aCg>aAg	p.T339K	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T339K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	339						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TACCCGTGCCGTCGAATCCCC	0.547																																					p.T339K		Atlas-SNP	.											ZDHHC11_ENST00000424784,NS,carcinoma,0,2	ZDHHC11	97	2	0			c.C1016A						PASS	.	G	LYS/THR	49,4357		0,49,2154	175	127	143		1016	0.1	0	5	dbSNP_100	143	124,8468		2,120,4174	yes	missense	ZDHHC11	NM_024786.2	78	2,169,6328	TT,TG,GG		1.4432,1.1121,1.331	benign	339/413	825286	173,12825	2203	4296	6499	SO:0001583	missense	79844	exon8			CGTGCCGTCGAAT	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1016C>A	5.37:g.825286G>T	ENSP00000283441:p.Thr339Lys	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	226	41	0.181416	NM_024786	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	1.645	-0.515441	0.04200	0.011121	0.014432	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.27104	1.69;1.69	0.131	0.131	0.14755	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	8	0.06099	T	0.92	.	.	.	.	rs2335585;rs16900451;rs52807118;rs59749811;rs2335585	339	Q9H8X9	ZDH11_HUMAN	K	339	ENSP00000397719:T339K;ENSP00000283441:T339K	ENSP00000283441:T339K	T	-	2	0	ZDHHC11	878286	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.529000	0.23019	0.171000	0.19730	0.174000	0.16983	ACG	G|0.985;T|0.015	0.015	strong		0.547	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	825286	G	T	825286	3	4	22	1	0	0	0	0	1	0	0	0	17598	1145	40	4	242	4	ZDHHC11	5	825286	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	825286	180089974	2868	7976	152	2								
ZDHHC11	79844	hgsc.bcm.edu	37	chr5	825297	825297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgtgccgtcgaatccccAtcctggtttactgaagtgca	9	14	0	1	rs1808545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:825297A>G	ENST00000283441.8	-	8	1388	c.1005T>C	c.(1003-1005)gaT>gaC	p.D335D	ZDHHC11_ENST00000424784.2_Silent_p.D335D|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	335						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCGAATCCCCATCCTGGTTTA	0.547																																					p.D335D		Atlas-SNP	.											.	ZDHHC11	97	.	0			c.T1005C						PASS	.						191	137	155					5																	825297		2203	4296	6499	SO:0001819	synonymous_variant	79844	exon8			ATCCCCATCCTGG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1005T>C	5.37:g.825297A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	260	55	0.211538	NM_024786	Q6UWR9	Silent	SNP	ENST00000283441.8	37	CCDS3857.1																																																																																			A|0.977;G|0.023	0.023	strong		0.547	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		G	825297	A	G	825297	2	3	22	1	0	0	0	0	0	0	0	1	17598	214	8	2		2	ZDHHC11	5	825297	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	825297	180089963	2869	7977										
NKD2	85409	hgsc.bcm.edu	37	chr5	1036482	1036482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccgggattgagaactacaCgtccagattcggccctggta	12	12	0	2	rs35679233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:1036482C>A	ENST00000296849.5	+	9	999	c.770C>A	c.(769-771)aCg>aAg	p.T257K	NKD2_ENST00000537972.1_Missense_Mutation_p.T257K|NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Missense_Mutation_p.T257K	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	257			T -> K (in dbSNP:rs35679233).		exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GAGAACTACACGTCCAGATTC	0.647													C|||	35	0.00698882	0.0242	0.0043	5008	,	,		10087	0.0		0.0	False		,,,				2504	0.0				p.T257K		Atlas-SNP	.											.	NKD2	39	.	0			c.C770A						PASS	.	C	LYS/THR	64,4342	58.7+/-95.3	0,64,2139	100	78	85		770	2.7	0.2	5	dbSNP_126	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NKD2	NM_033120.2	78	0,65,6438	AA,AC,CC		0.0116,1.4526,0.4998	probably-damaging	257/452	1036482	65,12941	2203	4300	6503	SO:0001583	missense	85409	exon9			ACTACACGTCCAG	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.770C>A	5.37:g.1036482C>A	ENSP00000296849:p.Thr257Lys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_001271082	Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	CCDS3859.1	11	0.005036630036630037	8	0.016260162601626018	3	0.008287292817679558	0	0.0	0	0.0	C	14.85	2.658436	0.47467	0.014526	1.16E-4	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.75589	0.25;-0.95;-0.95	4.5	2.69	0.31865	.	0.066054	0.64402	D	0.000014	T	0.71056	0.3295	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68039	0.938;0.955	T	0.76066	-0.3095	10	0.87932	D	0	-4.1939	7.4699	0.27342	0.0:0.7924:0.0:0.2076	rs35679233	257;257	Q969F2-2;Q969F2	.;NKD2_HUMAN	K	257	ENSP00000296849:T257K;ENSP00000274150:T257K;ENSP00000440925:T257K	ENSP00000274150:T257K	T	+	2	0	NKD2	1089482	0.977000	0.34250	0.199000	0.23439	0.223000	0.24884	2.475000	0.45162	0.339000	0.23719	0.491000	0.48974	ACG	C|0.994;A|0.006	0.006	strong		0.647	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		A	1036482	C	A	1036482	3	1	22	1	0	0	0	0	1	0	0	0	10442	536	19	4	804	4	NKD2	5	1036482	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	211185	1036482	179878778	2870	7978										
SLC12A7	10723	hgsc.bcm.edu	37	chr5	1057738	1057738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgccgcggtgtgggacgcGgtgttcctgtcgtggatcag	18	11	1	0	rs60281693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:1057738G>A	ENST00000264930.5	-	22	2917	c.2874C>T	c.(2872-2874)acC>acT	p.T958T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	958					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGTGGGACGCGGTGTTCCTGT	0.662													G|||	361	0.0720847	0.2564	0.0245	5008	,	,		12701	0.0		0.005	False		,,,				2504	0.0				p.T958T		Atlas-SNP	.											.	SLC12A7	97	.	0			c.C2874T						PASS	.	G		937,3469	355.1+/-312.9	103,731,1369	87	88	88		2874	-6.4	0	5	dbSNP_129	88	44,8554	27.9+/-77.7	1,42,4256	no	coding-synonymous	SLC12A7	NM_006598.2		104,773,5625	AA,AG,GG		0.5117,21.2665,7.5438		958/1084	1057738	981,12023	2203	4299	6502	SO:0001819	synonymous_variant	10723	exon22			GGACGCGGTGTTC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2874C>T	5.37:g.1057738G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	31	15	0.483871	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1	120	0.054945054945054944	110	0.22357723577235772	7	0.019337016574585635	1	0.0017482517482517483	2	0.002638522427440633	G	0.017	-1.499986	0.01001	0.212665	0.005117	ENSG00000113504	ENST00000513223	.	.	.	3.23	-6.45	0.01914	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.23036	P	0.99839583	.	.	.	.	.	.	T	0.20940	-1.0260	3	.	.	.	.	1.5148	0.02503	0.2916:0.095:0.3474:0.2659	rs60281693	.	.	.	C	316	.	.	R	-	1	0	SLC12A7	1110738	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-6.333000	0.00070	-2.446000	0.00546	-1.786000	0.00637	CGC	G|0.931;A|0.069	0.069	strong		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		A	1057738	G	A	1057738	2	1	22	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SLC12A7	5	1057738	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21256	1057738	179857522	2871	7979										
SLC6A18	348932	hgsc.bcm.edu	37	chr5	1240757	1240757	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaaagcaactaatgactaCgagcactgcctggacaggtg	10	10	1	1	rs7447815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:1240757C>G	ENST00000324642.3	+	7	1080	c.957C>G	c.(955-957)taC>taG	p.Y319*	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	319					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTAATGACTACGAGCACTGCC	0.612													C|||	1746	0.348642	0.3638	0.3775	5008	,	,		19420	0.2351		0.3688	False		,,,				2504	0.4039				p.Y319X		Atlas-SNP	.											.	SLC6A18	84	.	0			c.C957G	GRCh37	CM086962	SLC6A18	M	rs7447815	PASS	.	C	stop/TYR	1534,2872	484.6+/-360.1	249,1036,918	142	107	119		957	-3.1	0	5	dbSNP_116	119	3206,5394	484.0+/-371.3	622,1962,1716	yes	stop-gained	SLC6A18	NM_182632.2		871,2998,2634	GG,GC,CC		37.2791,34.8162,36.4447		319/629	1240757	4740,8266	2203	4300	6503	SO:0001587	stop_gained	348932	exon7			TGACTACGAGCAC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.957C>G	5.37:g.1240757C>G	ENSP00000323549:p.Tyr319*	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_182632		Nonsense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	743	0.3402014652014652	188	0.3821138211382114	135	0.3729281767955801	140	0.24475524475524477	280	0.36939313984168864	C	13.94	2.386926	0.42308	0.348162	0.372791	ENSG00000164363	ENST00000324642	.	.	.	4.51	-3.14	0.05250	.	0.627859	0.15102	N	0.280472	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.214	0.59844	0.0:0.2103:0.0:0.7897	rs7447815;rs7447815	.	.	.	X	319	.	ENSP00000323549:Y319X	Y	+	3	2	SLC6A18	1293757	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.005000	0.00650	-0.907000	0.03862	-1.743000	0.00684	TAC	C|0.649;G|0.351	0.351	strong		0.612	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		G	1240757	C	G	1240757	4	3	22	1	0	0	0	0	0	1	0	0	14681	547	19	4	983	4	SLC6A18	5	1240757	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	183019	1240757	179674503	2872	7980										
SLC6A3	6531	hgsc.bcm.edu	37	chr5	1409226	1409226	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatggtccaggagcgtgaaGacgtagatgccaccctggaa	13	9	0	3	rs8179035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:1409226G>C	ENST00000270349.9	-	11	1540	c.1413C>G	c.(1411-1413)gtC>gtG	p.V471V	SLC6A3_ENST00000453492.2_Silent_p.V471V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGAGCGTGAAGACGTAGATGC	0.572													G|||	21	0.00419329	0.0129	0.0029	5008	,	,		17164	0.0		0.002	False		,,,				2504	0.0				p.V471V		Atlas-SNP	.											SLC6A3,NS,carcinoma,-1,1	SLC6A3	102	1	0			c.C1413G						PASS	.	G		59,4343	55.5+/-91.7	0,59,2142	56	49	51		1413	0.7	1	5	dbSNP_125	51	1,8589		0,1,4294	no	coding-synonymous	SLC6A3	NM_001044.4		0,60,6436	CC,CG,GG		0.0116,1.3403,0.4618		471/621	1409226	60,12932	2201	4295	6496	SO:0001819	synonymous_variant	6531	exon11			CGTGAAGACGTAG		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1413C>G	5.37:g.1409226G>C		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	63	32	0.507937	NM_001044	A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	CCDS3863.1																																																																																			G|0.995;C|0.005	0.005	strong		0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		C	1409226	G	C	1409226	2	2	22	1	0	0	0	0	0	0	0	1	14685	929	33	4		4	SLC6A3	5	1409226	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168469	1409226	179506034	2873	7981										
IRX4	50805	hgsc.bcm.edu	37	chr5	1880891	1880891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaagggtagtaggcggcagCggctggtgccaggcccccat	17	11	0	0	rs2232376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:1880891C>T	ENST00000505790.1	-	4	811	c.355G>A	c.(355-357)Gct>Act	p.A119T	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.A119T|IRX4_ENST00000513692.1_Missense_Mutation_p.A119T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	119			A -> T (in dbSNP:rs2232376). {ECO:0000269|PubMed:15489334}.		establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TAGGCGGCAGCGGCTGGTGCC	0.632													C|||	687	0.137181	0.2156	0.1599	5008	,	,		13055	0.0139		0.2058	False		,,,				2504	0.0716				p.A119T		Atlas-SNP	.											IRX4,colon,carcinoma,0,1	IRX4	45	1	0			c.G355A						PASS	.	C	THR/ALA	1014,3390	372.5+/-320.4	107,800,1295	71	75	74		355	4	0	5	dbSNP_98	74	1742,6858	315.1+/-312.1	175,1392,2733	yes	missense	IRX4	NM_016358.2	58	282,2192,4028	TT,TC,CC		20.2558,23.0245,21.1935	benign	119/520	1880891	2756,10248	2202	4300	6502	SO:0001583	missense	50805	exon3			CGGCAGCGGCTGG	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.355G>A	5.37:g.1880891C>T	ENSP00000423161:p.Ala119Thr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	89	44	0.494382	NM_016358	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	346	0.15842490842490842	112	0.22764227642276422	70	0.19337016574585636	10	0.017482517482517484	154	0.20316622691292877	C	6.313	0.425811	0.11987	0.230245	0.202558	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.04	4.03	4.03	0.46877	.	0.359172	0.28332	N	0.015722	T	0.00012	0.0000	N	0.16478	0.41	0.29531	P	0.852752	P	0.37061	0.58	B	0.26310	0.068	T	0.10428	-1.0630	9	0.21014	T	0.42	-14.4145	14.9752	0.71267	0.0:1.0:0.0:0.0	rs2232376;rs60328712;rs2232376	119	P78413	IRX4_HUMAN	T	119	ENSP00000231357:A119T;ENSP00000423161:A119T;ENSP00000424235:A119T;ENSP00000421772:A119T	ENSP00000231357:A119T	A	-	1	0	IRX4	1933891	0.997000	0.39634	0.014000	0.15608	0.013000	0.08279	3.640000	0.54350	1.801000	0.52704	0.557000	0.71058	GCT	T|0.195;G|0.006	0.195	strong		0.632	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		T	1880891	C	T	1880891	3	4	22	1	0	0	0	0	1	0	0	0	7846	768	27	1	1216	1	IRX4	5	1880891	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	471665	1880891	179034369	2874	7982										
ADAMTS16	170690	hgsc.bcm.edu	37	chr5	5146395	5146395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccaggcacgacttccacAtggatctgaggacttccagc	10	14	1	1	rs1863968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:5146395A>G	ENST00000274181.7	+	3	466	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M110V|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	110			M -> V (in dbSNP:rs1863968).		branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGACTTCCACATGGATCTGAG	0.552													A|||	2418	0.482827	0.3525	0.4035	5008	,	,		17901	0.4286		0.6133	False		,,,				2504	0.637				p.M110V		Atlas-SNP	.											.	ADAMTS16	543	.	0			c.A328G						PASS	.	A	VAL/MET	1651,2329		349,953,688	78	80	79		328	-11.5	0.5	5	dbSNP_92	79	5137,3181		1597,1943,619	yes	missense	ADAMTS16	NM_139056.2	21	1946,2896,1307	GG,GA,AA		38.2424,41.4824,44.804	benign	110/1225	5146395	6788,5510	1990	4159	6149	SO:0001583	missense	170690	exon3			TTCCACATGGATC	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.328A>G	5.37:g.5146395A>G	ENSP00000274181:p.Met110Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	88	42	0.477273	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	1012	0.4633699633699634	168	0.34146341463414637	165	0.4558011049723757	226	0.3951048951048951	453	0.5976253298153035	A	9.286	1.049358	0.19827	0.414824	0.617576	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05199	3.48;3.48	5.74	-11.5	0.00074	Peptidase M12B, propeptide (1);	0.379381	0.26955	N	0.021648	T	0.00012	0.0000	L	0.45137	1.4	0.46823	P	7.869999999999822E-4	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.48559	-0.9025	9	0.66056	D	0.02	.	8.248	0.31700	0.1265:0.6005:0.1182:0.1548	rs1863968;rs16874855;rs52809911;rs59226841;rs1863968	110;110;110	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	V	110	ENSP00000274181:M110V;ENSP00000421631:M110V	ENSP00000274181:M110V	M	+	1	0	ADAMTS16	5199395	0.006000	0.16342	0.517000	0.27799	0.205000	0.24178	-1.137000	0.03219	-2.247000	0.00703	-0.400000	0.06385	ATG	G|0.499;N|0.001	0.499	strong		0.552	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5146395	A	G	5146395	3	3	22	1	0	0	0	0	1	0	0	0	261	217	8	2	338	2	ADAMTS16	5	5146395	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3265504	5146395	175768865	2875	7983										
KIAA0947	23379	hgsc.bcm.edu	37	chr5	5464237	5464237	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagctaatacaaaaactcAaagaagccaaactcagacca	4	10	2	2	rs10065646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:5464237A>C	ENST00000296564.7	+	13	5012	c.4790A>C	c.(4789-4791)cAa>cCa	p.Q1597P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1597			Q -> P (in dbSNP:rs10065646).		positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACAAAAACTCAAAGAAGCCAA	0.418													A|||	242	0.0483227	0.1725	0.0187	5008	,	,		20166	0.0		0.001	False		,,,				2504	0.0				p.Q1597P		Atlas-SNP	.											.	KIAA0947	301	.	0			c.A4790C						PASS	.	A	PRO/GLN	500,3252		44,412,1420	47	47	47		4790	-0.5	0	5	dbSNP_119	47	9,8207		0,9,4099	yes	missense	KIAA0947	NM_015325.1	76	44,421,5519	CC,CA,AA		0.1095,13.3262,4.253	benign	1597/2267	5464237	509,11459	1876	4108	5984	SO:0001583	missense	23379	exon13			AAACTCAAAGAAG																												ENST00000296564.7:c.4790A>C	5.37:g.5464237A>C	ENSP00000296564:p.Gln1597Pro	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	23	0.534884	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	100	0.045787545787545784	88	0.17886178861788618	12	0.03314917127071823	0	0.0	0	0.0	A	9.076	0.998101	0.19043	0.133262	0.001095	ENSG00000164151	ENST00000296564	T	0.10763	2.84	5.27	-0.478	0.12093	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15930	0.015	B	0.16722	0.016	T	0.46289	-0.9202	8	0.29301	T	0.29	0.0	7.2058	0.25907	0.3909:0.4671:0.0:0.1421	rs10065646;rs52803291;rs10065646	1597	Q9Y2F5	K0947_HUMAN	P	1597	ENSP00000296564:Q1597P	ENSP00000296564:Q1597P	Q	+	2	0	KIAA0947	5517237	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-0.688000	0.05150	-0.319000	0.08652	0.377000	0.23210	CAA	A|0.932;C|0.068	0.068	strong		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			C	5464237	A	C	5464237	3	2	22	1	0	0	0	0	1	0	0	0	8202	130	5	5	4840	5	KIAA0947	5	5464237	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	317842	5464237	175451023	2876	7984										
NSUN2	54888	hgsc.bcm.edu	37	chr5	6600150	6600150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctctgtccctcagtcacGtcattgtctggctgtccggt	10	14	5	0	rs3822434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:6600150G>A	ENST00000264670.6	-	19	2504	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	NSUN2_ENST00000539938.1_Silent_p.D495D|NSUN2_ENST00000506139.1_Silent_p.D696D	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	731					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTCAGTCACGTCATTGTCTG	0.572													C|||	869	0.173522	0.0825	0.2507	5008	,	,		18174	0.2321		0.1402	False		,,,				2504	0.2157				p.D731D		Atlas-SNP	.											NSUN2,colon,carcinoma,0,1	NSUN2	82	1	0			c.C2193T						PASS	.	C	,	411,3995		17,377,1809	182	144	157		2088,2193	-0.6	0	5	dbSNP_107	157	1279,7321		105,1069,3126	no	coding-synonymous,coding-synonymous	NSUN2	NM_001193455.1,NM_017755.5	,	122,1446,4935	AA,AG,GG		14.8721,9.3282,12.994	,	696/733,731/768	6600150	1690,11316	2203	4300	6503	SO:0001819	synonymous_variant	54888	exon19			AGTCACGTCATTG	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2193C>T	5.37:g.6600150G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	169	81	0.47929	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			G|0.862;C|0.000;A|0.138	0.138	strong		0.572	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		A	6600150	G	A	6600150	2	1	22	1	0	0	0	0	0	0	0	1	10678	1136	40	1		1	NSUN2	5	6600150	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1135913	6600150	174315110	2877	7985										
NSUN2	54888	hgsc.bcm.edu	37	chr5	6622139	6622139	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgcatacctggaaagggGacattcatgtcggcatgtag	12	8	1	0	rs148924682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:6622139G>T	ENST00000264670.6	-	6	923	c.612C>A	c.(610-612)gtC>gtA	p.V204V	NSUN2_ENST00000505264.1_Intron|NSUN2_ENST00000539938.1_Intron|NSUN2_ENST00000506139.1_Silent_p.V169V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	204					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTGGAAAGGGGACATTCATGT	0.408													G|||	51	0.0101837	0.0348	0.0058	5008	,	,		18768	0.0		0.001	False		,,,				2504	0.0				p.V204V		Atlas-SNP	.											NSUN2,NS,carcinoma,-1,1	NSUN2	82	1	0			c.C612A						PASS	.	G	,	150,4256	103.8+/-142.4	3,144,2056	180	150	161		507,612	-1.7	0.3	5	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NSUN2	NM_001193455.1,NM_017755.5	,	3,144,6356	TT,TG,GG		0.0,3.4044,1.1533	,	169/733,204/768	6622139	150,12856	2203	4300	6503	SO:0001819	synonymous_variant	54888	exon6			AAAGGGGACATTC	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.612C>A	5.37:g.6622139G>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	109	48	0.440367	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			G|0.990;T|0.010	0.010	strong		0.408	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6622139	G	T	6622139	2	4	22	1	0	0	0	0	0	0	0	1	10678	1161	41	4		4	NSUN2	5	6622139	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21989	6622139	174293121	2878	7986										
ADCY2	108	hgsc.bcm.edu	37	chr5	7520881	7520881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcttcatcatcttcgtgGtgtacaccatgctgcccttc	6	15	4	0	rs13166360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:7520881G>T	ENST00000338316.4	+	3	528	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	147			V -> L (in dbSNP:rs13166360). {ECO:0000269|PubMed:15489334}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCTTCGTGGTGTACACCAT	0.507													G|||	459	0.0916534	0.0545	0.0994	5008	,	,		21118	0.0		0.2117	False		,,,				2504	0.1074				p.V147L		Atlas-SNP	.											.	ADCY2	337	.	0			c.G439T						PASS	.	G	LEU/VAL	390,4016	194.7+/-219.5	22,346,1835	179	124	143		439	5.4	1	5	dbSNP_121	143	2139,6461	367.0+/-334.5	269,1601,2430	yes	missense	ADCY2	NM_020546.2	32	291,1947,4265	TT,TG,GG		24.8721,8.8516,19.4449	possibly-damaging	147/1092	7520881	2529,10477	2203	4300	6503	SO:0001583	missense	108	exon3			TTCGTGGTGTACA	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.439G>T	5.37:g.7520881G>T	ENSP00000342952:p.Val147Leu	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	172	89	0.517442	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	236	0.10805860805860806	30	0.06097560975609756	41	0.1132596685082873	0	0.0	165	0.21767810026385223	G	20.9	4.072518	0.76415	0.088516	0.248721	ENSG00000078295	ENST00000338316	T	0.76186	-1.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.64997	1.995	0.09310	P	1.0	P	0.37525	0.598	B	0.37888	0.26	T	0.01652	-1.1303	9	0.54805	T	0.06	.	16.4516	0.83993	0.0:0.0:1.0:0.0	rs13166360;rs17826984;rs60134556;rs13166360	147	Q08462	ADCY2_HUMAN	L	147	ENSP00000342952:V147L	ENSP00000342952:V147L	V	+	1	0	ADCY2	7573881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	2.545000	0.85829	0.650000	0.86243	GTG	G|0.850;T|0.150	0.150	strong		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7520881	G	T	7520881	3	4	22	1	0	0	0	0	1	0	0	0	294	1261	44	4	449	4	ADCY2	5	7520881	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	898742	7520881	173394379	2879	7987										
ADCY2	108	hgsc.bcm.edu	37	chr5	7690872	7690872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcggagatcatccagagGctgcagggccccaaggcggg	16	11	1	2	rs10079813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:7690872G>A	ENST00000338316.4	+	5	878	c.789G>A	c.(787-789)agG>agA	p.R263R	ADCY2_ENST00000537121.1_Silent_p.R83R|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATCCAGAGGCTGCAGGGCC	0.567													G|||	98	0.0195687	0.0741	0.0	5008	,	,		15611	0.0		0.0	False		,,,				2504	0.0				p.R263R		Atlas-SNP	.											.	ADCY2	337	.	0			c.G789A						PASS	.	G		292,4114	159.6+/-192.1	7,278,1918	70	66	67		789	1.9	1	5	dbSNP_119	67	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADCY2	NM_020546.2		7,281,6215	AA,AG,GG		0.0349,6.6273,2.2682		263/1092	7690872	295,12711	2203	4300	6503	SO:0001819	synonymous_variant	108	exon5			CCAGAGGCTGCAG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.789G>A	5.37:g.7690872G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																			G|0.976;A|0.024	0.024	strong		0.567	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7690872	G	A	7690872	2	1	22	1	0	0	0	0	0	0	0	1	294	1194	42	2		2	ADCY2	5	7690872	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	169991	7690872	173224388	2880	7988										
ADCY2	108	hgsc.bcm.edu	37	chr5	7706989	7706989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatgtgaccttggccaaCcacatggaagctggaggggt	14	9	0	2	rs75986905	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:7706989C>T	ENST00000338316.4	+	8	1331	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	ADCY2_ENST00000537121.1_Silent_p.N234N|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	414					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTTGGCCAACCACATGGAAG	0.502													C|||	68	0.0135783	0.0484	0.0058	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0				p.N414N		Atlas-SNP	.											.	ADCY2	337	.	0			c.C1242T						PASS	.	C		199,4207	124.5+/-161.8	4,191,2008	176	155	162		1242	-3.5	1	5	dbSNP_132	162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		4,193,6306	TT,TC,CC		0.0233,4.5166,1.5454		414/1092	7706989	201,12805	2203	4300	6503	SO:0001819	synonymous_variant	108	exon8			GGCCAACCACATG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1242C>T	5.37:g.7706989C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	248	123	0.495968	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																			C|0.985;T|0.015	0.015	strong		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7706989	C	T	7706989	2	4	22	1	0	0	0	0	0	0	0	1	294	506	18	2		2	ADCY2	5	7706989	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16117	7706989	173208271	2881	7989										
MTRR	4552	hgsc.bcm.edu	37	chr5	7885907	7885907	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctactccaaagactgcagCttgaagataaaagagagcac	9	10	0	4	rs10064631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:7885907C>G	ENST00000264668.2	+	7	1108	c.1078C>G	c.(1078-1080)Ctt>Gtt	p.L360V	MTRR_ENST00000440940.2_Missense_Mutation_p.L333V|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	360	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		L -> V (in dbSNP:rs10064631). {ECO:0000269|PubMed:10484769}.		cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AAGACTGCAGCTTGAAGATAA	0.468													C|||	199	0.0397364	0.1445	0.0115	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0				p.L360V		Atlas-SNP	.											.	MTRR	74	.	0			c.C1078G	GRCh37	CM992646	MTRR	M	rs10064631	PASS	.	C	VAL/LEU,VAL/LEU	639,3767	275.4+/-272.5	46,547,1610	109	109	109		997,1078	5.8	1	5	dbSNP_119	109	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	MTRR	NM_002454.2,NM_024010.2	32,32	46,555,5902	GG,GC,CC		0.093,14.503,4.9746	probably-damaging,probably-damaging	333/699,360/726	7885907	647,12359	2203	4300	6503	SO:0001583	missense	4552	exon7			CTGCAGCTTGAAG	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1078C>G	5.37:g.7885907C>G	ENSP00000264668:p.Leu360Val	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	197	92	0.467005	NM_024010	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	75	0.034340659340659344	71	0.1443089430894309	4	0.011049723756906077	0	0.0	0	0.0	C	15.42	2.826850	0.50739	0.14503	9.3E-4	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.39406	1.08;1.08	5.83	5.83	0.93111	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.00524	0.0017	M	0.66378	2.025	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.00119	-1.2031	10	0.31617	T	0.26	-27.2783	13.3424	0.60553	0.0:0.9283:0.0:0.0717	rs10064631;rs10064631	360	Q9UBK8	MTRR_HUMAN	V	360;333	ENSP00000264668:L360V;ENSP00000402510:L333V	ENSP00000264668:L360V	L	+	1	0	MTRR	7938907	1.000000	0.71417	0.991000	0.47740	0.034000	0.12701	4.189000	0.58358	2.753000	0.94483	0.650000	0.86243	CTT	C|0.948;G|0.052	0.052	strong		0.468	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			G	7885907	C	G	7885907	3	3	22	1	0	0	0	0	1	0	0	0	9961	797	28	4	1104	4	MTRR	5	7885907	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178918	7885907	173029353	2882	7990										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9044674	9044674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgctcagccccacggcGatcatgtggaacatgttgaa	12	11	2	1	rs11741186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:9044674G>A	ENST00000382496.5	-	22	3581	c.2916C>T	c.(2914-2916)atC>atT	p.I972I	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	972					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCCCACGGCGATCATGTGGA	0.527													G|||	198	0.0395367	0.1309	0.0115	5008	,	,		17614	0.0		0.0159	False		,,,				2504	0.001				p.I972I		Atlas-SNP	.											.	SEMA5A	236	.	0			c.C2916T						PASS	.	G		495,3911	228.1+/-243.1	23,449,1731	87	81	83		2916	-10.3	0	5	dbSNP_120	83	180,8420	82.3+/-144.9	3,174,4123	no	coding-synonymous	SEMA5A	NM_003966.2		26,623,5854	AA,AG,GG		2.093,11.2347,5.1899		972/1075	9044674	675,12331	2203	4300	6503	SO:0001819	synonymous_variant	9037	exon22			CACGGCGATCATG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2916C>T	5.37:g.9044674G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			G|0.950;A|0.050	0.050	strong		0.527	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9044674	G	A	9044674	2	1	22	1	0	0	0	0	0	0	0	1	14037	1048	37	1		1	SEMA5A	5	9044674	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1158767	9044674	171870586	2883	7991										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9122926	9122926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaccacacaccaaagtgCccatccacggtgagattcct	9	14	0	2	rs6894626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:9122926C>T	ENST00000382496.5	-	14	2288	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	541	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CACCAAAGTGCCCATCCACGG	0.542																																					p.G541G		Atlas-SNP	.											.	SEMA5A	236	.	0			c.G1623A						PASS	.	T		1126,3280	681.5+/-404.0	125,876,1202	60	61	61		1623	-1.7	0.3	5	dbSNP_116	61	454,8146	765.0+/-407.6	8,438,3854	no	coding-synonymous	SEMA5A	NM_003966.2		133,1314,5056	TT,TC,CC		5.2791,25.5561,12.1482		541/1075	9122926	1580,11426	2203	4300	6503	SO:0001819	synonymous_variant	9037	exon14			AAAGTGCCCATCC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1623G>A	5.37:g.9122926C>T		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	188	77	0.409574	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			C|0.837;T|0.163	0.163	strong		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9122926	C	T	9122926	2	4	22	1	0	0	0	0	0	0	0	1	14037	726	26	2		2	SEMA5A	5	9122926	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78252	9122926	171792334	2884	7992										
CCT5	22948	hgsc.bcm.edu	37	chr5	10262607	10262607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttagatcattgaggaggcGaaacgatcccttcacgatgc	10	11	2	2	rs113262482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:10262607G>A	ENST00000280326.4	+	9	1614	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	CCT5_ENST00000503026.1_Silent_p.A377A|CCT5_ENST00000515390.1_Silent_p.A343A|CCT5_ENST00000506600.1_Silent_p.A305A|CCT5_ENST00000515676.1_Silent_p.A360A|CTD-2256P15.4_ENST00000606194.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	398					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTGAGGAGGCGAAACGATCCC	0.468													G|||	40	0.00798722	0.0295	0.0	5008	,	,		20572	0.0		0.001	False		,,,				2504	0.0				p.A398A		Atlas-SNP	.											.	CCT5	49	.	0			c.G1194A						PASS	.	G		99,4307	79.3+/-117.8	1,97,2105	160	131	141		1194	-7.7	0.9	5	dbSNP_132	141	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous	CCT5	NM_012073.3		1,100,6402	AA,AG,GG		0.0349,2.2469,0.7843		398/542	10262607	102,12904	2203	4300	6503	SO:0001819	synonymous_variant	22948	exon9			GGAGGCGAAACGA	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1194G>A	5.37:g.10262607G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	143	68	0.475524	NM_012073	A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	CCDS3877.1																																																																																			G|0.992;A|0.008	0.008	strong		0.468	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			A	10262607	G	A	10262607	2	1	22	1	0	0	0	0	0	0	0	1	2956	1045	37	1		1	CCT5	5	10262607	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1139681	10262607	170652653	2885	7993										
CTNND2	1501	hgsc.bcm.edu	37	chr5	10973727	10973727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatggtggacctggtcctcGaagaaggactcatcgtaatt	12	9	1	1	rs1566622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:10973727G>A	ENST00000304623.8	-	22	3705	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.F835F|CTNND2_ENST00000458100.2_Silent_p.F739F|CTNND2_ENST00000511377.1_Silent_p.F1081F|CTNND2_ENST00000359640.2_Silent_p.F1114F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1172					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F1172F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTGGTCCTCGAAGAAGGACT	0.547													G|||	616	0.123003	0.1573	0.0836	5008	,	,		18194	0.2093		0.0746	False		,,,				2504	0.0654				p.F1172F		Atlas-SNP	.											CTNND2,colon,carcinoma,-2,3	CTNND2	289	3	1	Substitution - coding silent(1)	skin(1)	c.C3516T						PASS	.	G		611,3795	266.2+/-267.1	41,529,1633	142	120	128		3516	-0.9	1	5	dbSNP_88	128	748,7852	180.3+/-229.3	41,666,3593	no	coding-synonymous	CTNND2	NM_001332.2		82,1195,5226	AA,AG,GG		8.6977,13.8675,10.449		1172/1226	10973727	1359,11647	2203	4300	6503	SO:0001819	synonymous_variant	1501	exon22			GTCCTCGAAGAAG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3516C>T	5.37:g.10973727G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	178	89	0.5	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			G|0.882;A|0.118	0.118	strong		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	10973727	G	A	10973727	2	1	22	1	0	0	0	0	0	0	0	1	4020	1049	37	1		1	CTNND2	5	10973727	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	711120	10973727	169941533	2886	7994										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13701422	13701422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagttaaaaatccctgggGgttaaaaaaacccgtcatcc	8	10	1	0	rs113425437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13701422G>T	ENST00000265104.4	-	77	13566	c.13462C>A	c.(13462-13464)Ccc>Acc	p.P4488T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4488					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCCCTGGGGGTTAAAAAAA	0.418									Kartagener syndrome				G|||	207	0.0413339	0.149	0.0144	5008	,	,		14515	0.0		0.0	False		,,,				2504	0.0				p.P4488T		Atlas-SNP	.											.	DNAH5	868	.	0			c.C13462A						PASS	.	G	THR/PRO	586,3820	256.1+/-261.0	32,522,1649	77	84	82		13462	4.9	1	5	dbSNP_132	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH5	NM_001369.2	38	32,523,5948	TT,TG,GG		0.0116,13.3,4.5133	probably-damaging	4488/4625	13701422	587,12419	2203	4300	6503	SO:0001583	missense	1767	exon77	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCTGGGGGTTAAA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13462C>A	5.37:g.13701422G>T	ENSP00000265104:p.Pro4488Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	73	41	0.561644	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	58	0.026556776556776556	53	0.10772357723577236	5	0.013812154696132596	0	0.0	0	0.0	G	24.4	4.523833	0.85600	0.133	1.16E-4	ENSG00000039139	ENST00000265104	T	0.16196	2.36	5.78	4.91	0.64330	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.00440	0.0014	M	0.67953	2.075	0.80722	D	1	D	0.55385	0.971	D	0.73708	0.981	T	0.00011	-1.2433	10	0.87932	D	0	.	14.6237	0.68605	0.0697:0.0:0.9303:0.0	.	4488	Q8TE73	DYH5_HUMAN	T	4488	ENSP00000265104:P4488T	ENSP00000265104:P4488T	P	-	1	0	DNAH5	13754422	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.987000	0.88182	1.454000	0.47793	0.591000	0.81541	CCC	G|0.961;T|0.039	0.039	strong		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13701422	G	T	13701422	3	4	22	1	0	0	0	0	1	0	0	0	4604	1232	43	4	424	4	DNAH5	5	13701422	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2727695	13701422	167213838	2887	7995										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13753517	13753517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtaggagcatcaatcaacAtctcactgagatttaggttc	8	8	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13753517A>T	ENST00000265104.4	-	63	10801	c.10697T>A	c.(10696-10698)aTg>aAg	p.M3566K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3566					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCAATCAACATCTCACTGAG	0.403									Kartagener syndrome																												p.M3566K		Atlas-SNP	.											DNAH5,NS,carcinoma,+1,1	DNAH5	868	1	0			c.T10697A						PASS	.						136	131	133					5																	13753517		2203	4300	6503	SO:0001583	missense	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ATCAACATCTCAC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10697T>A	5.37:g.13753517A>T	ENSP00000265104:p.Met3566Lys	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	216	24	0.111111	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141563	0.77775	.	.	ENSG00000039139	ENST00000265104	T	0.25250	1.81	5.77	5.77	0.91146	.	0.087828	0.85682	D	0.000000	T	0.48314	0.1493	M	0.89478	3.035	0.80722	D	1	B	0.34290	0.447	B	0.44044	0.439	T	0.54139	-0.8338	10	0.66056	D	0.02	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	3566	Q8TE73	DYH5_HUMAN	K	3566	ENSP00000265104:M3566K	ENSP00000265104:M3566K	M	-	2	0	DNAH5	13806517	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	8.851000	0.92205	2.326000	0.78906	0.533000	0.62120	ATG	.	.	none		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13753517	A	T	13753517	3	4	22	1	0	0	0	0	1	0	0	0	4604	217	8	5	3245	5	DNAH5	5	13753517	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52095	13753517	167161743	2888	7996										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13754394	13754394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgccaagccactgatgagCgtggaagctgtctgcatctt	11	12	2	2	rs2401809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13754394C>T	ENST00000265104.4	-	62	10577	c.10473G>A	c.(10471-10473)acG>acA	p.T3491T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3491					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTGATGAGCGTGGAAGCTG	0.398									Kartagener syndrome				C|||	1644	0.328275	0.3298	0.2911	5008	,	,		18118	0.122		0.3847	False		,,,				2504	0.5072				p.T3491T		Atlas-SNP	.											.	DNAH5	868	.	0			c.G10473A						PASS	.	C		1493,2913	475.5+/-357.3	240,1013,950	127	121	123		10473	-7.5	0.1	5	dbSNP_100	123	3128,5472	475.8+/-369.2	559,2010,1731	no	coding-synonymous	DNAH5	NM_001369.2		799,3023,2681	TT,TC,CC		36.3721,33.8856,35.5298		3491/4625	13754394	4621,8385	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon62	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GATGAGCGTGGAA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10473G>A	5.37:g.13754394C>T		Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	255	251	0.984314	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			C|0.669;T|0.331	0.331	strong		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13754394	C	T	13754394	2	4	22	1	0	0	0	0	0	0	0	1	4604	755	27	1		1	DNAH5	5	13754394	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	877	13754394	167160866	2889	7997										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13762972	13762972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagtaaggactcaaaaaTtctatcacctcttcattgat	4	9	6	1	rs6554812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13762972T>C	ENST00000265104.4	-	60	10244	c.10140A>G	c.(10138-10140)gaA>gaG	p.E3380E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3380	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCAAAAATTCTATCACCT	0.373									Kartagener syndrome				C|||	1554	0.310304	0.3722	0.2709	5008	,	,		21726	0.1052		0.3012	False		,,,				2504	0.4755				p.E3380E		Atlas-SNP	.											DNAH5,NS,carcinoma,-2,1	DNAH5	868	1	0			c.A10140G						PASS	.	C		1601,2805	665.6+/-401.6	294,1013,896	77	74	75		10140	-5.2	0.7	5	dbSNP_116	75	2272,6328	707.4+/-405.6	306,1660,2334	no	coding-synonymous	DNAH5	NM_001369.2		600,2673,3230	CC,CT,TT		26.4186,36.3368,29.7786		3380/4625	13762972	3873,9133	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon60	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CAAAAATTCTATC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10140A>G	5.37:g.13762972T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			T|0.714;C|0.286	0.286	strong		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13762972	T	C	13762972	2	2	22	1	0	0	0	0	0	0	0	1	4604	1490	52	2		2	DNAH5	5	13762972	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8578	13762972	167152288	2890	7998										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13841066	13841066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatagtaatcagagtctcGtatttcactcgttccgtgga	9	8	3	2	rs6880264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13841066G>A	ENST00000265104.4	-	34	5762	c.5658C>T	c.(5656-5658)taC>taT	p.Y1886Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1886	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAGTCTCGTATTTCACTC	0.388									Kartagener syndrome				G|||	74	0.0147764	0.0545	0.0029	5008	,	,		19415	0.0		0.0	False		,,,				2504	0.0				p.Y1886Y		Atlas-SNP	.											.	DNAH5	868	.	0			c.C5658T						PASS	.	G		192,4214	122.9+/-160.3	2,188,2013	149	136	141		5658	-2.4	1	5	dbSNP_116	141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DNAH5	NM_001369.2		2,191,6310	AA,AG,GG		0.0349,4.3577,1.4993		1886/4625	13841066	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon34	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AGTCTCGTATTTC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5658C>T	5.37:g.13841066G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	141	63	0.446809	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			G|0.985;A|0.015	0.015	strong		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13841066	G	A	13841066	2	1	22	1	0	0	0	0	0	0	0	1	4604	1140	40	1		1	DNAH5	5	13841066	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78094	13841066	167074194	2891	7999										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13902220	13902220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttgaatctttgcaaatgTaacatccatgaacttccgca	6	9	1	2	rs1530498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13902220T>C	ENST00000265104.4	-	13	1776	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	558	Stem. {ECO:0000250}.		T -> A (in dbSNP:rs1530498).		cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCAAATGTAACATCCATG	0.294									Kartagener syndrome				T|||	1945	0.388379	0.1483	0.4251	5008	,	,		16928	0.7579		0.3996	False		,,,				2504	0.2945				p.T558A		Atlas-SNP	.											.	DNAH5	868	.	0			c.A1672G						PASS	.	T	ALA/THR	831,3573	319.9+/-296.3	78,675,1449	50	44	46		1672	2.6	0.8	5	dbSNP_88	46	3481,5103	491.7+/-373.2	730,2021,1541	yes	missense	DNAH5	NM_001369.2	58	808,2696,2990	CC,CT,TT		40.5522,18.8692,33.1999	benign	558/4625	13902220	4312,8676	2202	4292	6494	SO:0001583	missense	1767	exon13	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CAAATGTAACATC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1672A>G	5.37:g.13902220T>C	ENSP00000265104:p.Thr558Ala	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	996	0.45604395604395603	76	0.15447154471544716	161	0.4447513812154696	442	0.7727272727272727	317	0.4182058047493404	T	5.215	0.225193	0.09916	0.188692	0.405522	ENSG00000039139	ENST00000265104	T	0.52295	0.67	4.94	2.56	0.30785	Dynein heavy chain, domain-1 (1);	0.161948	0.53938	N	0.000059	T	0.00012	0.0000	L	0.58669	1.825	0.21604	P	0.999628715	B	0.09022	0.002	B	0.16722	0.016	T	0.44298	-0.9337	9	0.06365	T	0.9	.	8.8615	0.35261	0.0:0.1533:0.0:0.8467	rs1530498;rs17276273;rs52824180;rs61580738;rs1530498	558	Q8TE73	DYH5_HUMAN	A	558	ENSP00000265104:T558A	ENSP00000265104:T558A	T	-	1	0	DNAH5	13955220	0.989000	0.36119	0.822000	0.32727	0.988000	0.76386	1.739000	0.38217	0.338000	0.23692	0.533000	0.62120	ACA	T|0.601;C|0.399	0.399	strong		0.294	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13902220	T	C	13902220	3	2	22	1	0	0	0	0	1	0	0	0	4604	1638	57	2	12470	2	DNAH5	5	13902220	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	61154	13902220	167013040	2892	8000										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13913885	13913885	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgtcttccagcccttcAattgtggaatcttgcaggac	9	12	3	0	rs3213936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13913885A>G	ENST00000265104.4	-	11	1607	c.1503T>C	c.(1501-1503)atT>atC	p.I501I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	501	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGCCCTTCAATTGTGGAAT	0.343									Kartagener syndrome				G|||	2648	0.528754	0.5666	0.4496	5008	,	,		17549	0.8492		0.3797	False		,,,				2504	0.3569				p.I501I		Atlas-SNP	.											.	DNAH5	868	.	0			c.T1503C						PASS	.	G		2330,2076	569.4+/-382.6	601,1128,474	121	124	123		1503	-6.6	0.1	5	dbSNP_106	123	3258,5342	648.2+/-400.5	628,2002,1670	no	coding-synonymous	DNAH5	NM_001369.2		1229,3130,2144	GG,GA,AA		37.8837,47.1176,42.9648		501/4625	13913885	5588,7418	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCCTTCAATTGTG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1503T>C	5.37:g.13913885A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			A|0.439;G|0.561	0.561	strong		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		G	13913885	A	G	13913885	2	3	22	1	0	0	0	0	0	0	0	1	4604	126	5	2		2	DNAH5	5	13913885	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11665	13913885	167001375	2893	8001										
DNAH5	1767	hgsc.bcm.edu	37	chr5	13931340	13931340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgcttggcttccttctctCccttcagtctttgctaaaag	6	15	3	0	rs1530496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:13931340C>T	ENST00000265104.4	-	2	175	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	24	Stem. {ECO:0000250}.		G -> E (in dbSNP:rs1530496).		cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCTTCTCTCCCTTCAGTCT	0.378									Kartagener syndrome				T|||	2507	0.500599	0.6112	0.4669	5008	,	,		19739	0.7014		0.2833	False		,,,				2504	0.3916				p.G24E		Atlas-SNP	.											.	DNAH5	868	.	0			c.G71A						PASS	.	T	GLU/GLY	2480,1926	546.3+/-377.0	708,1064,431	87	88	88		71	5.6	1	5	dbSNP_88	88	2599,6001	687.2+/-404.2	407,1785,2108	yes	missense	DNAH5	NM_001369.2	98	1115,2849,2539	TT,TC,CC		30.2209,43.7131,39.0512	benign	24/4625	13931340	5079,7927	2203	4300	6503	SO:0001583	missense	1767	exon2	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTCTCTCCCTTCA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.71G>A	5.37:g.13931340C>T	ENSP00000265104:p.Gly24Glu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	1057	0.483974358974359	286	0.5813008130081301	162	0.44751381215469616	389	0.6800699300699301	220	0.29023746701846964	T	6.293	0.422151	0.11928	0.562869	0.302209	ENSG00000039139	ENST00000265104	T	0.19938	2.11	5.6	5.6	0.85130	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00044	-2.455	0.44825	P	0.0021660000000000013	B	0.02656	0.0	B	0.01281	0.0	T	0.42865	-0.9426	9	0.02654	T	1	.	11.6651	0.51368	0.0:0.0702:0.0:0.9298	rs1530496;rs52796631;rs59635012;rs1530496	24	Q8TE73	DYH5_HUMAN	E	24	ENSP00000265104:G24E	ENSP00000265104:G24E	G	-	2	0	DNAH5	13984340	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.349000	0.66010	1.060000	0.40578	-0.269000	0.10298	GGA	C|0.571;T|0.429	0.429	strong		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13931340	C	T	13931340	3	4	22	1	0	0	0	0	1	0	0	0	4604	855	30	2	14115	2	DNAH5	5	13931340	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17455	13931340	166983920	2894	8002										
TRIO	7204	hgsc.bcm.edu	37	chr5	14291259	14291259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcgacacggcagcatctGcaccagatgtggcatgtgag	12	12	1	2	rs61737132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:14291259G>A	ENST00000344204.4	+	5	999	c.975G>A	c.(973-975)ctG>ctA	p.L325L	TRIO_ENST00000509967.2_Silent_p.L276L|TRIO_ENST00000537187.1_Silent_p.L325L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	325					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGCAGCATCTGCACCAGATGT	0.562													G|||	213	0.0425319	0.152	0.0173	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0				p.L325L		Atlas-SNP	.											.	TRIO	305	.	0			c.G975A						PASS	.	G		550,3856	236.8+/-248.8	36,478,1689	54	52	53		975	4.2	1	5	dbSNP_129	53	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	TRIO	NM_007118.2		36,482,5985	AA,AG,GG		0.0465,12.483,4.2596		325/3098	14291259	554,12452	2203	4300	6503	SO:0001819	synonymous_variant	7204	exon5			GCATCTGCACCAG	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.975G>A	5.37:g.14291259G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	143	63	0.440559	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			G|0.963;A|0.037	0.037	strong		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14291259	G	A	14291259	2	1	22	1	0	0	0	0	0	0	0	1	16549	1306	46	2		2	TRIO	5	14291259	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	359919	14291259	166624001	2895	8003										
TRIO	7204	hgsc.bcm.edu	37	chr5	14316642	14316642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagccaagatgggaagtcGctccttgacaagctccagcg	12	12	1	2	rs55920001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:14316642G>A	ENST00000344204.4	+	9	1545	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	TRIO_ENST00000509967.2_Silent_p.S458S|TRIO_ENST00000537187.1_Silent_p.S507S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	507					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGGGAAGTCGCTCCTTGACA	0.557													G|||	182	0.0363419	0.0484	0.036	5008	,	,		19551	0.0278		0.0388	False		,,,				2504	0.0266				p.S507S		Atlas-SNP	.											.	TRIO	305	.	0			c.G1521A						PASS	.	G		241,4165	141.5+/-176.9	10,221,1972	69	61	64		1521	-10.8	0.3	5	dbSNP_129	64	354,8246	119.7+/-179.0	7,340,3953	no	coding-synonymous	TRIO	NM_007118.2		17,561,5925	AA,AG,GG		4.1163,5.4698,4.5748		507/3098	14316642	595,12411	2203	4300	6503	SO:0001819	synonymous_variant	7204	exon9			GAAGTCGCTCCTT	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1521G>A	5.37:g.14316642G>A		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	250	116	0.464	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			G|0.957;A|0.043	0.043	strong		0.557	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14316642	G	A	14316642	2	1	22	1	0	0	0	0	0	0	0	1	16549	1074	38	1		1	TRIO	5	14316642	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25383	14316642	166598618	2896	8004										
TRIO	7204	hgsc.bcm.edu	37	chr5	14389469	14389469	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaaacaaagaactcatcatCttcggaaacatgcaagaaat	6	8	3	2	rs7715916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:14389469C>T	ENST00000344204.4	+	25	4044	c.4020C>T	c.(4018-4020)atC>atT	p.I1340I	TRIO_ENST00000509967.2_Silent_p.I1291I|TRIO_ENST00000537187.1_Silent_p.I1340I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1340	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACTCATCATCTTCGGAAACA	0.433													C|||	549	0.109625	0.264	0.1037	5008	,	,		18889	0.0		0.0606	False		,,,				2504	0.0685				p.I1340I		Atlas-SNP	.											.	TRIO	305	.	0			c.C4020T						PASS	.	C		1061,3345	384.4+/-325.3	133,795,1275	106	107	106		4020	6	1	5	dbSNP_116	106	385,8215	124.6+/-183.3	10,365,3925	no	coding-synonymous	TRIO	NM_007118.2		143,1160,5200	TT,TC,CC		4.4767,24.0808,11.1179		1340/3098	14389469	1446,11560	2203	4300	6503	SO:0001819	synonymous_variant	7204	exon25			CATCATCTTCGGA	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4020C>T	5.37:g.14389469C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			C|0.891;T|0.109	0.109	strong		0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14389469	C	T	14389469	2	4	22	1	0	0	0	0	0	0	0	1	16549	903	32	2		2	TRIO	5	14389469	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72827	14389469	166525791	2897	8005										
TRIO	7204	hgsc.bcm.edu	37	chr5	14397238	14397238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccgaagcgagccaatgaTgccatgcacctcagcatgct	11	13	1	1	rs30774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:14397238T>C	ENST00000344204.4	+	29	4422	c.4398T>C	c.(4396-4398)gaT>gaC	p.D1466D	TRIO_ENST00000509967.2_Silent_p.D1417D|TRIO_ENST00000537187.1_Silent_p.D1466D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1466	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAGCCAATGATGCCATGCACC	0.498													C|||	1970	0.393371	0.6974	0.3761	5008	,	,		19858	0.0982		0.334	False		,,,				2504	0.3599				p.D1466D		Atlas-SNP	.											TRIO,NS,carcinoma,0,1	TRIO	305	1	0			c.T4398C						PASS	.	C		2842,1564	475.7+/-357.4	918,1006,279	97	87	90		4398	-7.6	0.2	5	dbSNP_76	90	2907,5691	654.6+/-401.2	511,1885,1903	no	coding-synonymous	TRIO	NM_007118.2		1429,2891,2182	CC,CT,TT		33.8102,35.497,44.2095		1466/3098	14397238	5749,7255	2203	4299	6502	SO:0001819	synonymous_variant	7204	exon29			CAATGATGCCATG	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4398T>C	5.37:g.14397238T>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	145	144	0.993103	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			T|0.590;C|0.410	0.410	strong		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		C	14397238	T	C	14397238	2	2	22	1	0	0	0	0	0	0	0	1	16549	1461	51	2		2	TRIO	5	14397238	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7769	14397238	166518022	2898	8006										
FAM134B	54463	hgsc.bcm.edu	37	chr5	16475209	16475209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgaccactgtccaactGttccttctttctcttgagct	6	13	3	2	rs34432513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16475209G>C	ENST00000306320.9	-	9	1221	c.1135C>G	c.(1135-1137)Cag>Gag	p.Q379E	FAM134B_ENST00000399793.2_Missense_Mutation_p.Q238E	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	379			Q -> E (in dbSNP:rs34432513).		sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGTCCAACTGTTCCTTCTTT	0.453													G|||	57	0.0113818	0.0393	0.0058	5008	,	,		20685	0.0		0.001	False		,,,				2504	0.0				p.Q379E		Atlas-SNP	.											.	FAM134B	72	.	0			c.C1135G						PASS	.	G	GLU/GLN,GLU/GLN	137,3809		4,129,1840	165	161	162	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1135,712	3.9	0	5	dbSNP_126	162	2,8320		0,2,4159	yes	missense,missense	FAM134B	NM_001034850.1,NM_019000.3	29,29	4,131,5999	CC,CG,GG		0.024,3.4719,1.133	benign,benign	379/498,238/357	16475209	139,12129	1973	4161	6134	SO:0001583	missense	54463	exon9			CCAACTGTTCCTT	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1135C>G	5.37:g.16475209G>C	ENSP00000304642:p.Gln379Glu	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	206	104	0.504854	NM_001034850	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	G	0.004	-2.276501	0.00254	0.034719	2.4E-4	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.43688	0.96;0.94	5.7	3.86	0.44501	.	0.782790	0.11830	N	0.525295	T	0.01976	0.0062	N	0.25647	0.755	0.09310	N	1	B;B	0.23442	0.085;0.034	B;B	0.19666	0.026;0.022	T	0.10823	-1.0613	10	0.02654	T	1	-0.8582	10.5977	0.45347	0.0:0.1293:0.6027:0.2681	rs34432513	379;238	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	E	238;379	ENSP00000382691:Q238E;ENSP00000304642:Q379E	ENSP00000304642:Q379E	Q	-	1	0	FAM134B	16528209	0.617000	0.27043	0.001000	0.08648	0.391000	0.30476	4.123000	0.57917	0.704000	0.31869	0.655000	0.94253	CAG	G|0.984;C|0.016	0.016	strong		0.453	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		C	16475209	G	C	16475209	3	2	22	1	0	0	0	0	1	0	0	0	5446	1386	48	4	362	4	FAM134B	5	16475209	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2077971	16475209	164440051	2899	8007										
MYO10	4651	hgsc.bcm.edu	37	chr5	16673800	16673800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcctcacctccccagcGgtggtgtgggagttgatggt	13	13	2	1	rs3188408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16673800G>A	ENST00000513610.1	-	36	5617	c.5163C>T	c.(5161-5163)acC>acT	p.T1721T	MYO10_ENST00000505695.1_Silent_p.T1060T|MYO10_ENST00000274203.9_Silent_p.T1078T|MYO10_ENST00000427430.2_Silent_p.T1078T|MYO10_ENST00000515803.1_Silent_p.T1060T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1721	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTCCCCAGCGGTGGTGTGGG	0.537													G|||	151	0.0301518	0.1074	0.0058	5008	,	,		16446	0.0		0.001	False		,,,				2504	0.0041				p.T1721T		Atlas-SNP	.											.	MYO10	198	.	0			c.C5163T						PASS	.	G		383,3691		24,335,1678	50	52	51		5163	-10.6	0.2	5	dbSNP_105	51	3,8375		0,3,4186	no	coding-synonymous	MYO10	NM_012334.2		24,338,5864	AA,AG,GG		0.0358,9.4011,3.0999		1721/2059	16673800	386,12066	2037	4189	6226	SO:0001819	synonymous_variant	4651	exon36			CCCAGCGGTGGTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5163C>T	5.37:g.16673800G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			G|0.980;A|0.020	0.020	strong		0.537	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16673800	G	A	16673800	2	1	22	1	0	0	0	0	0	0	0	1	10062	1103	39	1		1	MYO10	5	16673800	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	198591	16673800	164241460	2900	8008										
MYO10	4651	hgsc.bcm.edu	37	chr5	16673975	16673975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcgtatttttccatctcgCttcctggaaactgttcccgt	8	12	1	0	rs25901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16673975C>G	ENST00000513610.1	-	36	5442	c.4988G>C	c.(4987-4989)aGc>aCc	p.S1663T	MYO10_ENST00000274203.9_Missense_Mutation_p.S1020T|MYO10_ENST00000427430.2_Missense_Mutation_p.S1020T|MYO10_ENST00000505695.1_Missense_Mutation_p.S1002T|MYO10_ENST00000515803.1_Missense_Mutation_p.S1002T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1663	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.		S -> T (in dbSNP:rs25901). {ECO:0000269|PubMed:10984435, ECO:0000269|PubMed:11278607, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452}.		ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCATCTCGCTTCCTGGAAA	0.468													G|||	4125	0.823682	0.9849	0.8055	5008	,	,		17976	0.7708		0.666	False		,,,				2504	0.8354				p.S1663T		Atlas-SNP	.											.	MYO10	198	.	0			c.G4988C						PASS	.	G	THR/SER	3508,246		1636,236,5	91	92	92		4988	5.4	1	5	dbSNP_76	92	5524,2722		1855,1814,454	yes	missense	MYO10	NM_012334.2	58	3491,2050,459	GG,GC,CC		33.0099,6.553,24.7333	benign	1663/2059	16673975	9032,2968	1877	4123	6000	SO:0001583	missense	4651	exon36			ATCTCGCTTCCTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4988G>C	5.37:g.16673975C>G	ENSP00000421280:p.Ser1663Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	92	91	0.98913	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	1718	0.7866300366300366	479	0.9735772357723578	282	0.7790055248618785	451	0.7884615384615384	506	0.6675461741424802	g	8.947	0.967253	0.18659	0.93447	0.669901	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.41	5.41	0.78517	MyTH4 domain (3);	.	.	.	.	T	0.00012	0.0000	N	0.04355	-0.22	0.43930	P	0.003414000000000028	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.002;0.003	T	0.46105	-0.9215	8	0.02654	T	1	.	16.4107	0.83712	0.0:0.1316:0.8684:0.0	rs25901;rs3892701;rs17429238;rs52818591;rs56807217;rs25901	542;1303;1663	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	T	1663;1002;1020;1002;1020	ENSP00000421280:S1663T;ENSP00000425051:S1002T;ENSP00000274203:S1020T;ENSP00000421170:S1002T;ENSP00000391106:S1020T	ENSP00000274203:S1020T	S	-	2	0	MYO10	16726975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.033000	0.88852	1.291000	0.44653	-0.242000	0.12053	AGC	C|0.213;G|0.787	0.787	strong		0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		G	16673975	C	G	16673975	3	3	22	1	0	0	0	0	1	0	0	0	10062	797	28	4	1212	4	MYO10	5	16673975	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	175	16673975	164241285	2901	8009										
MYO10	4651	hgsc.bcm.edu	37	chr5	16682062	16682062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccagtggtgcatctcctcCggcgtgtcggcgttgcagtg	14	12	1	0	rs16868979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16682062C>T	ENST00000513610.1	-	31	4561	c.4107G>A	c.(4105-4107)ccG>ccA	p.P1369P	MYO10_ENST00000274203.9_Silent_p.P726P|MYO10_ENST00000427430.2_Silent_p.P726P|MYO10_ENST00000505695.1_Silent_p.P708P|MYO10_ENST00000515803.1_Silent_p.P708P	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1369					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCATCTCCTCCGGCGTGTCGG	0.587													C|||	141	0.028155	0.0998	0.0058	5008	,	,		17271	0.0		0.0	False		,,,				2504	0.0051				p.P1369P		Atlas-SNP	.											MYO10,NS,carcinoma,0,1	MYO10	198	1	0			c.G4107A						PASS	.	C		367,3887		21,325,1781	112	113	113		4107	-11.6	0.4	5	dbSNP_123	113	2,8458		0,2,4228	no	coding-synonymous	MYO10	NM_012334.2		21,327,6009	TT,TC,CC		0.0236,8.6272,2.9023		1369/2059	16682062	369,12345	2127	4230	6357	SO:0001819	synonymous_variant	4651	exon31			CTCCTCCGGCGTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4107G>A	5.37:g.16682062C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	127	64	0.503937	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			C|0.960;T|0.040	0.040	strong		0.587	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16682062	C	T	16682062	2	4	22	1	0	0	0	0	0	0	0	1	10062	639	23	1		1	MYO10	5	16682062	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8087	16682062	164233198	2902	8010										
MYO10	4651	hgsc.bcm.edu	37	chr5	16701717	16701717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacgcttcctcctccagCctgcggagctcctggtcccg	10	19	0	0	rs149110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16701717C>T	ENST00000513610.1	-	25	3241	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	MYO10_ENST00000274203.9_Silent_p.R286R|MYO10_ENST00000427430.2_Silent_p.R286R|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Silent_p.R268R|MYO10_ENST00000515803.1_Silent_p.R268R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	929	Mediates antiparallel dimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTCCTCCAGCCTGCGGAGCT	0.637													C|||	327	0.0652955	0.2277	0.0288	5008	,	,		13912	0.0		0.006	False		,,,				2504	0.0				p.R929R		Atlas-SNP	.											.	MYO10	198	.	0			c.G2787A						PASS	.	C		850,3468		77,696,1386	24	29	27		2787	3.2	0.9	5	dbSNP_79	27	49,8505		1,47,4229	no	coding-synonymous	MYO10	NM_012334.2		78,743,5615	TT,TC,CC		0.5728,19.685,6.9842		929/2059	16701717	899,11973	2159	4277	6436	SO:0001819	synonymous_variant	4651	exon25			CTCCAGCCTGCGG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2787G>A	5.37:g.16701717C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			C|0.928;T|0.072	0.072	strong		0.637	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16701717	C	T	16701717	2	4	22	1	0	0	0	0	0	0	0	1	10062	738	26	2		2	MYO10	5	16701717	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19655	16701717	164213543	2903	8011										
MYO10	4651	hgsc.bcm.edu	37	chr5	16754991	16754991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggattagaggagcttagCgttgccattaaggaatgcag	13	5	0	1	rs61736777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16754991C>T	ENST00000513610.1	-	19	2329	c.1875G>A	c.(1873-1875)acG>acA	p.T625T		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	625	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCTTAGCGTTGCCATTA	0.398													C|||	153	0.0305511	0.1112	0.0072	5008	,	,		15693	0.0		0.001	False		,,,				2504	0.0				p.T625T		Atlas-SNP	.											.	MYO10	198	.	0			c.G1875A						PASS	.	C		322,3610		11,300,1655	69	66	67		1875	-11.5	0	5	dbSNP_129	67	4,8360		0,4,4178	no	coding-synonymous	MYO10	NM_012334.2		11,304,5833	TT,TC,CC		0.0478,8.1892,2.6513		625/2059	16754991	326,11970	1966	4182	6148	SO:0001819	synonymous_variant	4651	exon19			GCTTAGCGTTGCC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1875G>A	5.37:g.16754991C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			C|0.973;T|0.027	0.027	strong		0.398	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16754991	C	T	16754991	2	4	22	1	0	0	0	0	0	0	0	1	10062	755	27	1		1	MYO10	5	16754991	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53274	16754991	164160269	2904	8012										
MYO10	4651	hgsc.bcm.edu	37	chr5	16769273	16769273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagcctcgacacttcccGaacttcctccttgctgaact	6	16	0	1	rs11750538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:16769273G>A	ENST00000513610.1	-	10	1424	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	324	Myosin motor.		R -> W (in dbSNP:rs11750538). {ECO:0000269|PubMed:10984435, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GACACTTCCCGAACTTCCTCC	0.403													G|||	2410	0.48123	0.3396	0.4006	5008	,	,		17279	0.5357		0.5984	False		,,,				2504	0.5532				p.R324W		Atlas-SNP	.											.	MYO10	198	.	0			c.C970T						PASS	.	G	TRP/ARG	1489,2349		291,907,721	109	100	103		970	4.8	0.8	5	dbSNP_120	103	4949,3323		1492,1965,679	yes	missense	MYO10	NM_012334.2	101	1783,2872,1400	AA,AG,GG		40.1717,38.7962,46.8373	possibly-damaging	324/2059	16769273	6438,5672	1919	4136	6055	SO:0001583	missense	4651	exon10			CTTCCCGAACTTC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.970C>T	5.37:g.16769273G>A	ENSP00000421280:p.Arg324Trp	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	1111	0.5086996336996337	173	0.3516260162601626	171	0.4723756906077348	314	0.548951048951049	453	0.5976253298153035	G	8.864	0.947529	0.18356	0.387962	0.598283	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.88509	-2.39;-2.39	5.71	4.82	0.62117	Myosin head, motor domain (2);	.	.	.	.	T	0.00012	0.0000	L	0.35723	1.085	0.09310	P	0.999999999999986	D	0.61080	0.989	P	0.53185	0.72	T	0.45190	-0.9278	8	0.45353	T	0.12	.	13.5022	0.61462	0.0:0.0:0.7155:0.2845	rs11750538;rs52826195;rs60590343;rs11750538	324	Q9HD67	MYO10_HUMAN	W	324;335	ENSP00000421280:R324W;ENSP00000421309:R335W	ENSP00000421280:R324W	R	-	1	2	MYO10	16822273	0.997000	0.39634	0.769000	0.31535	0.687000	0.40016	2.849000	0.48286	1.359000	0.45940	0.585000	0.79938	CGG	G|0.492;A|0.507	0.507	strong		0.403	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16769273	G	A	16769273	3	1	22	1	0	0	0	0	1	0	0	0	10062	1057	37	1	5334	1	MYO10	5	16769273	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14282	16769273	164145987	2905	8013										
CDH12	1010	hgsc.bcm.edu	37	chr5	22078584	22078584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atactgaggctcggagcccaCgtattcttccagcacaaaaa	8	12	1	1	rs4371716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:22078584C>T	ENST00000382254.1	-	5	1288	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	CDH12_ENST00000504376.2_Missense_Mutation_p.V68M|CDH12_ENST00000522262.1_Missense_Mutation_p.V68M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in dbSNP:rs4371716). {ECO:0000269|PubMed:7731968}.		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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCGGAGCCCACGTATTCTTCC	0.443										HNSCC(59;0.17)			T|||	1814	0.36222	0.6755	0.2824	5008	,	,		19512	0.1438		0.2396	False		,,,				2504	0.3466				p.V68M		Atlas-SNP	.											CDH12,NS,carcinoma,+2,1	CDH12	238	1	0			c.G202A	GRCh37	CM067358	CDH12	M	rs4371716	PASS	.	T	MET/VAL	2732,1674	508.8+/-367.0	855,1022,326	102	102	102		202	5.5	1	5	dbSNP_111	102	2068,6532	718.9+/-406.2	240,1588,2472	yes	missense	CDH12	NM_004061.3	21	1095,2610,2798	TT,TC,CC		24.0465,37.9936,36.906	benign	68/795	22078584	4800,8206	2203	4300	6503	SO:0001583	missense	1010	exon5			AGCCCACGTATTC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.202G>A	5.37:g.22078584C>T	ENSP00000371689:p.Val68Met	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	194	94	0.484536	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	707	0.32371794871794873	339	0.6890243902439024	97	0.26795580110497236	87	0.1520979020979021	184	0.24274406332453827	T	14.54	2.565803	0.45694	0.620064	0.240465	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.00013	9.26;9.26;9.26	5.5	5.5	0.81552	Cadherin (1);Cadherin-like (1);	0.039736	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00885	-1.115	0.49389	P	2.1700000000002273E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.03493	-1.1031	9	0.24483	T	0.36	.	11.5275	0.50588	0.0:0.0702:0.0:0.9298	rs4371716;rs52822851;rs57140592;rs4371716	68;68	B7Z2U6;P55289	.;CAD12_HUMAN	M	68	ENSP00000423577:V68M;ENSP00000371689:V68M;ENSP00000428786:V68M	ENSP00000371689:V68M	V	-	1	0	CDH12	22114341	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.801000	0.69115	0.931000	0.37242	-0.269000	0.10298	GTG	C|0.643;T|0.357	0.357	strong		0.443	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	22078584	C	T	22078584	3	4	22	1	0	0	0	0	1	0	0	0	3098	536	19	1	2226	1	CDH12	5	22078584	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5309311	22078584	158836676	2906	8014										
CDH9	1007	hgsc.bcm.edu	37	chr5	26988328	26988328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcatcttttgtcagacccGctatctttttgcttgataaa	6	10	4	2	rs2288466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:26988328G>A	ENST00000231021.4	-	2	285	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	38			A -> V (in dbSNP:rs2288466). {ECO:0000269|PubMed:15489334}.		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCAGACCCGCTATCTTTTT	0.393													A|||	1910	0.38139	0.6936	0.2666	5008	,	,		15880	0.1508		0.4712	False		,,,				2504	0.1861				p.A38V	Melanoma(8;187 585 15745 40864 52829)	Atlas-SNP	.											CDH9,NS,carcinoma,+1,1	CDH9	305	1	0			c.C113T						PASS	.	A	VAL/ALA	3019,1387	457.8+/-351.8	1046,927,230	139	135	136		113	3.3	0	5	dbSNP_100	136	4305,4295	576.0+/-390.3	1099,2107,1094	yes	missense	CDH9	NM_016279.3	64	2145,3034,1324	AA,AG,GG		49.9419,31.4798,43.6875	benign	38/790	26988328	7324,5682	2203	4300	6503	SO:0001583	missense	1007	exon2			AGACCCGCTATCT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.113C>T	5.37:g.26988328G>A	ENSP00000231021:p.Ala38Val	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	179	81	0.452514	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	901	0.4125457875457875	324	0.6585365853658537	113	0.31215469613259667	98	0.17132867132867133	366	0.48284960422163586	A	3.005	-0.205196	0.06180	0.685202	0.500581	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.57436	0.51;0.4;1.94	5.64	3.28	0.37604	.	1.138130	0.06392	N	0.717309	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.46091	-0.9216	8	.	.	.	.	8.4322	0.32764	0.6064:0.0:0.3936:0.0	rs2288466;rs17565545;rs52826250;rs57578097;rs2288466	38;38	E7EPN0;Q9ULB4	.;CADH9_HUMAN	V	38	ENSP00000231021:A38V;ENSP00000426239:A38V;ENSP00000422538:A38V	.	A	-	2	0	CDH9	27024085	0.000000	0.05858	0.014000	0.15608	0.685000	0.39939	0.479000	0.22228	0.109000	0.17891	-0.332000	0.08345	GCG	G|0.501;A|0.499	0.499	strong		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26988328	G	A	26988328	3	1	22	1	0	0	0	0	1	0	0	0	3117	1087	38	1	2300	1	CDH9	5	26988328	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4909744	26988328	153926932	2907	8015										
CDH9	1007	hgsc.bcm.edu	37	chr5	26988424	26988424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagatgaataatggtataTaatggtaagtcctcattatc	7	6	1	2	rs2288467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:26988424T>C	ENST00000231021.4	-	2	189	c.17A>G	c.(16-18)tAt>tGt	p.Y6C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	6			Y -> C (in dbSNP:rs2288467). {ECO:0000269|PubMed:15489334}.		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TAATGGTATATAATGGTAAGT	0.333													C|||	1632	0.325879	0.4894	0.2536	5008	,	,		15500	0.1518		0.4712	False		,,,				2504	0.1861				p.Y6C	Melanoma(8;187 585 15745 40864 52829)	Atlas-SNP	.											.	CDH9	305	.	0			c.A17G						PASS	.	C	CYS/TYR	2289,2117	576.3+/-384.2	594,1101,508	119	125	123		17	2.7	0	5	dbSNP_100	123	4297,4303	575.6+/-390.2	1094,2109,1097	yes	missense	CDH9	NM_016279.3	194	1688,3210,1605	CC,CT,TT		49.9651,48.0481,49.3618	benign	6/790	26988424	6586,6420	2203	4300	6503	SO:0001583	missense	1007	exon2			GGTATATAATGGT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.17A>G	5.37:g.26988424T>C	ENSP00000231021:p.Tyr6Cys	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	87	39	0.448276	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	811	0.37133699633699635	240	0.4878048780487805	107	0.2955801104972376	98	0.17132867132867133	366	0.48284960422163586	C	0.009	-1.810275	0.00600	0.519519	0.499651	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.56941	0.5;0.43;1.97	5.47	2.69	0.31865	.	0.598700	0.17677	N	0.165778	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47302	-0.9128	8	.	.	.	.	4.1531	0.10247	0.3976:0.3825:0.0:0.2199	rs2288467;rs17499800;rs52812429;rs59304285;rs2288467	6;6	E7EPN0;Q9ULB4	.;CADH9_HUMAN	C	6	ENSP00000231021:Y6C;ENSP00000426239:Y6C;ENSP00000422538:Y6C	.	Y	-	2	0	CDH9	27024181	0.868000	0.29978	0.003000	0.11579	0.062000	0.15995	0.105000	0.15333	0.021000	0.15133	-0.349000	0.07799	TAT	C|0.447;N|0.000	0.447	strong		0.333	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		C	26988424	T	C	26988424	3	2	22	1	0	0	0	0	1	0	0	0	3117	1406	49	2	2396	2	CDH9	5	26988424	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	96	26988424	153926836	2908	8016										
RNASEN	29102	hgsc.bcm.edu	37	chr5	31409252	31409252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggggtcattccaatcctgAttcaaaatgaactcctgtgg	9	9	2	2	rs2241337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:31409252A>G	ENST00000511367.2	-	32	4009	c.3765T>C	c.(3763-3765)aaT>aaC	p.N1255N	DROSHA_ENST00000513349.1_Silent_p.N1218N|DROSHA_ENST00000344624.3_Silent_p.N1255N|DROSHA_ENST00000442743.1_Silent_p.N1218N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1255	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCCAATCCTGATTCAAAATGA	0.413													A|||	1537	0.306909	0.2519	0.2839	5008	,	,		17757	0.4772		0.2137	False		,,,				2504	0.318				p.N1255N		Atlas-SNP	.											.	DROSHA	130	.	0			c.T3765C						PASS	.	A	,	890,2784		115,660,1062	62	58	59		3654,3765	4.1	1	5	dbSNP_98	59	1561,6621		151,1259,2681	no	coding-synonymous,coding-synonymous	DROSHA	NM_001100412.1,NM_013235.4	,	266,1919,3743	GG,GA,AA		19.0785,24.2243,20.6731	,	1218/1338,1255/1375	31409252	2451,9405	1837	4091	5928	SO:0001819	synonymous_variant	29102	exon32			ATCCTGATTCAAA	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3765T>C	5.37:g.31409252A>G		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	248	110	0.443548	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	CCDS47195.1																																																																																			A|0.696;G|0.304	0.304	strong		0.413	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		G	31409252	A	G	31409252	2	3	22	1	0	0	0	0	0	0	0	1	13417	330	12	2		2	RNASEN	5	31409252	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4420828	31409252	149506008	2909	8017										
RNASEN	29102	hgsc.bcm.edu	37	chr5	31526531	31526531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgtggtgagaatagcccGgagggtactgataattaacc	13	6	0	2	rs77034974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:31526531G>A	ENST00000511367.2	-	4	753	c.509C>T	c.(508-510)cCg>cTg	p.P170L	DROSHA_ENST00000513349.1_Missense_Mutation_p.P170L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P170L|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Missense_Mutation_p.P170L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	170	Pro-rich.			YQYPPGYSH -> RERERTSLE (in Ref. 4; CAB45133). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAATAGCCCGGAGGGTACTG	0.532													G|||	179	0.0357428	0.1293	0.0115	5008	,	,		13508	0.0		0.0	False		,,,				2504	0.0				p.P170L		Atlas-SNP	.											.	DROSHA	130	.	0			c.C509T						PASS	.	G	LEU/PRO,LEU/PRO	443,3287		29,385,1451	47	47	47		509,509	5.1	0.2	5	dbSNP_131	47	2,8200		0,2,4099	yes	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	98,98	29,387,5550	AA,AG,GG		0.0244,11.8767,3.7295	possibly-damaging,possibly-damaging	170/1338,170/1375	31526531	445,11487	1865	4101	5966	SO:0001583	missense	29102	exon4			TAGCCCGGAGGGT	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.509C>T	5.37:g.31526531G>A	ENSP00000425979:p.Pro170Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	228	103	0.451754	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	55	0.025183150183150184	51	0.10365853658536585	4	0.011049723756906077	0	0.0	0	0.0	G	10.57	1.386208	0.25031	0.118767	2.44E-4	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.41400	1.56;1.56;1.0;1.0;1.02	5.12	5.12	0.69794	.	0.173463	0.48767	D	0.000168	T	0.00384	0.0012	N	0.14661	0.345	0.22989	N	0.998465	B;B;B	0.28760	0.221;0.033;0.081	B;B;B	0.16722	0.016;0.007;0.007	T	0.00466	-1.1722	10	0.26408	T	0.33	-10.9681	18.5802	0.91168	0.0:0.0:1.0:0.0	.	170;170;170	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	L	170;170;170;170;163;163;170	ENSP00000425979:P170L;ENSP00000339845:P170L;ENSP00000409335:P170L;ENSP00000424161:P170L;ENSP00000430921:P170L	ENSP00000265075:P163L	P	-	2	0	DROSHA	31562288	0.989000	0.36119	0.199000	0.23439	0.255000	0.26057	4.682000	0.61671	2.366000	0.80165	0.655000	0.94253	CCG	G|0.974;A|0.026	0.026	strong		0.532	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31526531	G	A	31526531	3	1	22	1	0	0	0	0	1	0	0	0	13417	1116	39	1	3743	1	RNASEN	5	31526531	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117279	31526531	149388729	2910	8018										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32000302	32000302	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaatggtcatttactggtCgggctctcccacgaggaagc	11	11	3	0	rs372606333		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32000302C>T	ENST00000438447.1	+	5	1567	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	PDZD2_ENST00000282493.3_Silent_p.V393V			O15018	PDZD2_HUMAN	PDZ domain containing 2	393	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATTTACTGGTCGGGCTCTCCC	0.527																																					p.V393V		Atlas-SNP	.											PDZD2,NS,carcinoma,+2,1	PDZD2	306	1	0			c.C1179T						scavenged	.	C		1,4405	2.1+/-5.4	0,1,2202	117	109	112		1179	-7.1	0.4	5		112	0,8600		0,0,4300	no	coding-synonymous	PDZD2	NM_178140.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		393/2840	32000302	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23037	exon4			ACTGGTCGGGCTC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1179C>T	5.37:g.32000302C>T		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	289	5	0.017301	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			.	.	weak		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32000302	C	T	32000302	2	4	22	1	0	0	0	0	0	0	0	1	11701	871	31	1		1	PDZD2	5	32000302	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	473771	32000302	148914958	2911	8019										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32077653	32077653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtcccatctggatgccaGccacctcacagagaacctgc	8	16	3	1	rs61745726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32077653G>A	ENST00000438447.1	+	19	4011	c.3623G>A	c.(3622-3624)aGc>aAc	p.S1208N	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1208N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1208					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGATGCCAGCCACCTCACA	0.498													G|||	454	0.090655	0.3298	0.0231	5008	,	,		18720	0.0		0.002	False		,,,				2504	0.0				p.S1208N		Atlas-SNP	.											.	PDZD2	306	.	0			c.G3623A						PASS	.	G	ASN/SER	1252,3154	430.6+/-342.6	174,904,1125	105	101	102		3623	4.1	0	5	dbSNP_129	102	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PDZD2	NM_178140.2	46	174,908,5421	AA,AG,GG		0.0465,28.4158,9.6571	benign	1208/2840	32077653	1256,11750	2203	4300	6503	SO:0001583	missense	23037	exon18			ATGCCAGCCACCT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3623G>A	5.37:g.32077653G>A	ENSP00000402033:p.Ser1208Asn	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	121	121	1	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	178	0.0815018315018315	172	0.34959349593495936	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	G	5.804	0.332658	0.10956	0.284158	4.65E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06449	3.3;3.3	4.98	4.08	0.47627	.	0.800186	0.10630	N	0.652231	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B;B	0.24823	0.112;0.063	B;B	0.22386	0.026;0.039	T	0.41161	-0.9524	9	0.10636	T	0.68	.	10.343	0.43891	0.1022:0.0:0.8977:0.0	rs61745726	1034;1208	B4E3P2;O15018	.;PDZD2_HUMAN	N	1208;1013;1208	ENSP00000402033:S1208N;ENSP00000282493:S1208N	ENSP00000282493:S1208N	S	+	2	0	PDZD2	32113410	0.543000	0.26434	0.014000	0.15608	0.054000	0.15201	3.444000	0.52914	1.049000	0.40321	0.563000	0.77884	AGC	G|0.913;A|0.087	0.087	strong		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32077653	G	A	32077653	3	1	22	1	0	0	0	0	1	0	0	0	11701	971	34	2	3693	2	PDZD2	5	32077653	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77351	32077653	148837607	2912	8020										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32087374	32087374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctgcatcgcccagggtcAccaagtgcaaggccaggtct	12	14	2	0	rs157496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32087374A>G	ENST00000438447.1	+	20	4208	c.3820A>G	c.(3820-3822)Acc>Gcc	p.T1274A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1274A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1274			T -> A (in dbSNP:rs157496). {ECO:0000269|PubMed:9205841}.		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAGGGTCACCAAGTGCAA	0.642													G|||	1802	0.359824	0.3396	0.2349	5008	,	,		15983	0.4137		0.2773	False		,,,				2504	0.5051				p.T1274A		Atlas-SNP	.											.	PDZD2	306	.	0			c.A3820G						PASS	.	G	ALA/THR	1489,2917	674.5+/-402.9	239,1011,953	64	75	71		3820	-5.2	0	5	dbSNP_79	71	1988,6612	721.7+/-406.4	244,1500,2556	yes	missense	PDZD2	NM_178140.2	58	483,2511,3509	GG,GA,AA		23.1163,33.7948,26.7338	benign	1274/2840	32087374	3477,9529	2203	4300	6503	SO:0001583	missense	23037	exon19			AGGGTCACCAAGT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3820A>G	5.37:g.32087374A>G	ENSP00000402033:p.Thr1274Ala	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	134	57	0.425373	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	718	0.32875457875457875	172	0.34959349593495936	91	0.2513812154696133	239	0.4178321678321678	216	0.2849604221635884	G	2.516	-0.311796	0.05422	0.337948	0.231163	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05855	3.38;3.38	3.67	-5.16	0.02857	.	0.732309	0.11815	N	0.526814	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	9	0.06494	T	0.89	.	2.0276	0.03523	0.1219:0.2193:0.3799:0.2789	rs157496;rs527617;rs1175728;rs3822361;rs56556053;rs60698662;rs157496	1274	O15018	PDZD2_HUMAN	A	1274;1075;1274	ENSP00000402033:T1274A;ENSP00000282493:T1274A	ENSP00000282493:T1274A	T	+	1	0	PDZD2	32123131	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.248000	0.01189	-1.500000	0.01819	-1.493000	0.00968	ACC	A|0.706;G|0.294	0.294	strong		0.642	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	32087374	A	G	32087374	3	3	22	1	0	0	0	0	1	0	0	0	11701	159	6	2	3894	2	PDZD2	5	32087374	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9721	32087374	148827886	2913	8021										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32087828	32087828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtagagagagccctgtgaCggacattgacagcttcatca	12	9	2	4	rs36097367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32087828C>T	ENST00000438447.1	+	20	4662	c.4274C>T	c.(4273-4275)aCg>aTg	p.T1425M	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1425M			O15018	PDZD2_HUMAN	PDZ domain containing 2	1425			T -> M (in dbSNP:rs36097367).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCCTGTGACGGACATTGAC	0.607													C|||	183	0.0365415	0.1346	0.0058	5008	,	,		18447	0.0		0.001	False		,,,				2504	0.0				p.T1425M		Atlas-SNP	.											PDZD2,NS,carcinoma,-1,1	PDZD2	306	1	0			c.C4274T						PASS	.	C	MET/THR	527,3879	232.0+/-245.7	27,473,1703	40	41	41		4274	4.7	0.8	5	dbSNP_126	41	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PDZD2	NM_178140.2	81	27,478,5998	TT,TC,CC		0.0581,11.961,4.0904	probably-damaging	1425/2840	32087828	532,12474	2203	4300	6503	SO:0001583	missense	23037	exon19			CTGTGACGGACAT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4274C>T	5.37:g.32087828C>T	ENSP00000402033:p.Thr1425Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	149	89	0.597315	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	50	0.022893772893772892	48	0.0975609756097561	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	17.75	3.467294	0.63625	0.11961	5.81E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09723	2.95;2.95	5.55	4.67	0.58626	.	0.000000	0.45867	D	0.000323	T	0.00384	0.0012	L	0.59436	1.845	0.38283	D	0.942477	D	0.89917	1.0	D	0.71656	0.974	T	0.00203	-1.1924	10	0.87932	D	0	.	13.494	0.61414	0.1575:0.8425:0.0:0.0	rs36097367	1425	O15018	PDZD2_HUMAN	M	1425;1226;1425	ENSP00000402033:T1425M;ENSP00000282493:T1425M	ENSP00000282493:T1425M	T	+	2	0	PDZD2	32123585	0.993000	0.37304	0.800000	0.32199	0.624000	0.37722	3.702000	0.54800	1.331000	0.45412	0.655000	0.94253	ACG	C|0.961;T|0.039	0.039	strong		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32087828	C	T	32087828	3	4	22	1	0	0	0	0	1	0	0	0	11701	536	19	1	4348	1	PDZD2	5	32087828	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	454	32087828	148827432	2914	8022										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32093079	32093079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgttttatcgtcagtgggAtcgaaatctaccatcctaac	7	10	3	0	rs16889443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32093079A>G	ENST00000438447.1	+	21	8182	c.7794A>G	c.(7792-7794)ggA>ggG	p.G2598G	PDZD2_ENST00000282493.3_Silent_p.G2598G			O15018	PDZD2_HUMAN	PDZ domain containing 2	2598					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGTCAGTGGGATCGAAATCTA	0.408													G|||	425	0.0848642	0.3064	0.0259	5008	,	,		18742	0.0		0.002	False		,,,				2504	0.0				p.G2598G		Atlas-SNP	.											.	PDZD2	306	.	0			c.A7794G						PASS	.	G		925,3481	737.3+/-410.9	104,717,1382	83	84	84		7794	1.9	0.1	5	dbSNP_123	84	6,8594	818.6+/-406.8	0,6,4294	no	coding-synonymous	PDZD2	NM_178140.2		104,723,5676	GG,GA,AA		0.0698,20.9941,7.1582		2598/2840	32093079	931,12075	2203	4300	6503	SO:0001819	synonymous_variant	23037	exon20			AGTGGGATCGAAA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7794A>G	5.37:g.32093079A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	194	100	0.515464	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			A|0.932;G|0.068	0.068	strong		0.408	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	32093079	A	G	32093079	2	3	22	1	0	0	0	0	0	0	0	1	11701	320	12	2		2	PDZD2	5	32093079	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5251	32093079	148822181	2915	8023										
GOLPH3	64083	hgsc.bcm.edu	37	chr5	32126441	32126441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagccaaatcatactgctcGtccagaagaggagcaaaagc	10	10	1	2	rs34212503	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32126441G>A	ENST00000265070.6	-	4	1089	c.774C>T	c.(772-774)gaC>gaT	p.D258D	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	258					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CATACTGCTCGTCCAGAAGAG	0.557													G|||	219	0.04373	0.1604	0.0072	5008	,	,		19268	0.0		0.002	False		,,,				2504	0.0				p.D258D		Atlas-SNP	.											.	GOLPH3	25	.	0			c.C774T						PASS	.	G		495,3911	231.7+/-245.5	32,431,1740	103	86	92		774	-7.3	0.7	5	dbSNP_126	92	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	GOLPH3	NM_022130.3		32,439,6032	AA,AG,GG		0.093,11.2347,3.8674		258/299	32126441	503,12503	2203	4300	6503	SO:0001819	synonymous_variant	64083	exon4			CTGCTCGTCCAGA	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.774C>T	5.37:g.32126441G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_022130	Q9UIW5	Silent	SNP	ENST00000265070.6	37	CCDS3896.1																																																																																			G|0.966;A|0.034	0.034	strong		0.557	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		A	32126441	G	A	32126441	2	1	22	1	0	0	0	0	0	0	0	1	6568	1136	40	1		1	GOLPH3	5	32126441	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33362	32126441	148788819	2916	8024										
NPR3	4883	hgsc.bcm.edu	37	chr5	32712119	32712119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccggccatcgagtatgcTctgcgcagcgtggagggcaa	16	12	1	0	rs6859964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:32712119T>C	ENST00000265074.8	+	1	580	c.237T>C	c.(235-237)gcT>gcC	p.A79A	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.A79A|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	79					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCGAGTATGCTCTGCGCAGCG	0.642													T|||	226	0.0451278	0.1679	0.0043	5008	,	,		14376	0.0		0.001	False		,,,				2504	0.0				p.A79A		Atlas-SNP	.											.	NPR3	65	.	0			c.T237C						PASS	.	T	,,	522,3402		36,450,1476	25	30	28		237,237,	1.2	1	5	dbSNP_116	28	2,8314		0,2,4156	no	coding-synonymous,coding-synonymous,intron	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	,,	36,452,5632	CC,CT,TT		0.0241,13.3028,4.281	,,	79/541,79/542,	32712119	524,11716	1962	4158	6120	SO:0001819	synonymous_variant	4883	exon1			GTATGCTCTGCGC		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.237T>C	5.37:g.32712119T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	124	61	0.491935	NM_000908	A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	CCDS56357.1																																																																																			T|0.956;C|0.044	0.044	strong		0.642	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		C	32712119	T	C	32712119	2	2	22	1	0	0	0	0	0	0	0	1	10596	1538	54	3		3	NPR3	5	32712119	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	585678	32712119	148203141	2917	8025										
ADAMTS12	81792	hgsc.bcm.edu	37	chr5	33881385	33881385	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctattggaaagaaatccttGattgaccgtcaagttaaaaa	8	6	1	3	rs16891862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:33881385G>C	ENST00000504830.1	-	2	663	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q110E|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.Q110E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	110			Q -> E (in dbSNP:rs16891862).		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						AGAAATCCTTGATTGACCGTC	0.478										HNSCC(64;0.19)			G|||	63	0.0125799	0.0446	0.0058	5008	,	,		20577	0.0		0.0	False		,,,				2504	0.0				p.Q110E		Atlas-SNP	.											.	ADAMTS12	464	.	0			c.C328G						PASS	.	G	GLU/GLN	137,4269	97.1+/-135.8	5,127,2071	118	113	115		328	2.2	0	5	dbSNP_123	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAMTS12	NM_030955.2	29	5,128,6370	CC,CG,GG		0.0116,3.1094,1.061	benign	110/1595	33881385	138,12868	2203	4300	6503	SO:0001583	missense	81792	exon2			ATCCTTGATTGAC	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.328C>G	5.37:g.33881385G>C	ENSP00000422554:p.Gln110Glu	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	164	72	0.439024	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	15	0.006868131868131868	12	0.024390243902439025	3	0.008287292817679558	0	0.0	0	0.0	G	5.178	0.218364	0.09810	0.031094	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.05513	3.43;3.43;3.43	5.65	2.19	0.27852	Peptidase M12B, propeptide (1);	1.682860	0.03218	N	0.177161	T	0.01940	0.0061	L	0.42245	1.32	0.09310	N	1	B;B;B	0.21309	0.0;0.054;0.001	B;B;B	0.19666	0.001;0.026;0.02	T	0.42666	-0.9438	10	0.16420	T	0.52	.	2.8766	0.05632	0.1002:0.3354:0.3077:0.2567	rs16891862;rs52818503;rs16891862	110;110;110	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	E	110	ENSP00000422554:Q110E;ENSP00000344847:Q110E;ENSP00000421638:Q110E	ENSP00000344847:Q110E	Q	-	1	0	ADAMTS12	33917142	0.018000	0.18449	0.001000	0.08648	0.807000	0.45602	0.455000	0.21843	0.100000	0.17581	0.467000	0.42956	CAA	C|0.011;G|0.989	0.011	strong		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33881385	G	C	33881385	3	2	22	1	0	0	0	0	1	0	0	0	257	1299	45	4	4548	4	ADAMTS12	5	33881385	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1169266	33881385	147033875	2918	8026										
RXFP3	51289	hgsc.bcm.edu	37	chr5	33937215	33937215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacctcttcgtcaccaacCtggcgctgacggactttcag	8	15	4	1	rs78710898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:33937215C>T	ENST00000330120.3	+	1	725	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	124					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGTCACCAACCTGGCGCTGAC	0.582													C|||	66	0.0131789	0.0469	0.0058	5008	,	,		19766	0.0		0.0	False		,,,				2504	0.0				p.L124L		Atlas-SNP	.											.	RXFP3	114	.	0			c.C370T						PASS	.	C		146,4260	101.2+/-139.8	5,136,2062	137	126	129		370	4.8	1	5	dbSNP_132	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXFP3	NM_016568.3		5,137,6361	TT,TC,CC		0.0116,3.3137,1.1302		124/470	33937215	147,12859	2203	4300	6503	SO:0001819	synonymous_variant	51289	exon1			ACCAACCTGGCGC	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.370C>T	5.37:g.33937215C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	139	76	0.546763	NM_016568	Q14DA5	Silent	SNP	ENST00000330120.3	37	CCDS3900.1																																																																																			C|0.989;T|0.011	0.011	strong		0.582	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		T	33937215	C	T	33937215	2	4	22	1	0	0	0	0	0	0	0	1	13761	680	24	2		2	RXFP3	5	33937215	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55830	33937215	146978045	2919	8027										
AMACR	23600	hgsc.bcm.edu	37	chr5	34008100	34008100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggccggacagctccaCgaccgagatgccctgcagtg	14	15	0	1	rs3195676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34008100C>T	ENST00000335606.6	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.V9M|AMACR_ENST00000426255.2_Missense_Mutation_p.V9M|AMACR_ENST00000382072.2_Missense_Mutation_p.V9M|AMACR_ENST00000512079.1_Missense_Mutation_p.V9M|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382068.3_Missense_Mutation_p.V9M|AMACR_ENST00000502637.1_Missense_Mutation_p.V9M|AMACR_ENST00000441713.2_Missense_Mutation_p.V9M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	9			V -> M (in dbSNP:rs3195676). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GACAGCTCCACGACCGAGATG	0.692													C|||	1437	0.286941	0.1415	0.4078	5008	,	,		13433	0.3542		0.505	False		,,,				2504	0.1043				p.V9M		Atlas-SNP	.											AMACR,NS,carcinoma,0,3	AMACR	38	3	0			c.G25A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL	920,3464		111,698,1383	22	23	23		25,25,25	-9.4	0	5	dbSNP_105	23	4492,4084		1195,2102,991	yes	missense,missense,missense	AMACR	NM_001167595.1,NM_014324.5,NM_203382.2	21,21,21	1306,2800,2374	TT,TC,CC		47.6213,20.9854,41.7593	benign,benign,benign	9/395,9/383,9/199	34008100	5412,7548	2192	4288	6480	SO:0001583	missense	23600	exon1			GCTCCACGACCGA	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.25G>A	5.37:g.34008100C>T	ENSP00000334424:p.Val9Met	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	116	58	0.5	NM_014324	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	833	0.3814102564102564	75	0.1524390243902439	164	0.4530386740331492	203	0.3548951048951049	391	0.5158311345646438	C	17.23	3.337535	0.60963	0.209854	0.523787	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.72	-9.44	0.00603	CoA-transferase family III domain (2);	0.597947	0.17508	N	0.171723	T	0.00012	0.0000	M	0.93062	3.375	0.09310	P	0.999999999608215	P;B;B;P;B	0.46987	0.888;0.24;0.155;0.858;0.155	B;B;B;P;B	0.48488	0.301;0.092;0.026;0.579;0.026	T	0.48570	-0.9024	9	0.62326	D	0.03	-4.4361	14.2962	0.66316	0.4513:0.0933:0.4554:0.0	rs3195676;rs17850511;rs3195676	9;9;9;9;9	Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;AMACR_HUMAN	M	9	ENSP00000334424:V9M;ENSP00000371504:V9M;ENSP00000371517:V9M;ENSP00000424351:V9M;ENSP00000403800:V9M	ENSP00000334424:V9M	V	-	1	0	AMACR	34043857	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.233000	0.02934	-3.351000	0.00181	-1.104000	0.02111	GTG	C|0.609;T|0.391	0.391	strong		0.692	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		T	34008100	C	T	34008100	3	4	22	1	0	0	0	0	1	0	0	0	562	536	19	1	1473	1	AMACR	5	34008100	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70885	34008100	146907160	2920	8028										
RAI14	26064	hgsc.bcm.edu	37	chr5	34687817	34687817	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaatggaagggaattagaTggaagccaaggtatgtcact	12	4	1	1	rs10521016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34687817T>C	ENST00000265109.3	+	2	323				RAI14_ENST00000506376.1_Start_Codon_SNP_p.M1T|RAI14_ENST00000503673.1_Intron|RAI14_ENST00000515799.1_Intron|RAI14_ENST00000428746.2_Intron|RAI14_ENST00000512629.1_Intron	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGGAATTAGATGGAAGCCAAG	0.413													T|||	143	0.0285543	0.1044	0.0072	5008	,	,		19536	0.0		0.0	False		,,,				2504	0.0				p.M1T		Atlas-SNP	.											.	RAI14	100	.	0			c.T2C						PASS	.						187	157	166					5																	34687817		692	1591	2283	SO:0001627	intron_variant	26064	exon1			ATTAGATGGAAGC	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.36+757T>C	5.37:g.34687817T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	181	180	0.994475	NM_001145523	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	67	0.030677655677655676	65	0.13211382113821138	2	0.0055248618784530384	0	0.0	0	0.0	T	7.737	0.700548	0.15106	.	.	ENSG00000039560	ENST00000506376	T	0.33654	1.4	5.19	-0.0796	0.13710	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	8	0.56958	D	0.05	.	0.6567	0.00835	0.1705:0.1874:0.1658:0.4763	rs10521016;rs56487933;rs10521016	1	Q9P0K7-3	.	T	1	ENSP00000423854:M1T	ENSP00000423854:M1T	M	+	2	0	RAI14	34723574	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.023000	0.12456	-0.143000	0.11334	-1.087000	0.02190	ATG	T|0.955;C|0.045	0.045	strong		0.413	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		C	34687817	T	C	34687817	1	2	22	0	1	0	0	0	0	0	0	0	13008	1464	51	2		2	RAI14	5	34687817	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	679717	34687817	146227443	2921	8029										
RAI14	26064	hgsc.bcm.edu	37	chr5	34811137	34811137	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgggaatataccgctgctTcttgctgtacaaaatggtca	10	8	2	0	rs2271522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34811137T>G	ENST00000265109.3	+	8	758	c.471T>G	c.(469-471)ctT>ctG	p.L157L	RAI14_ENST00000506376.1_Silent_p.L149L|RAI14_ENST00000503673.1_Silent_p.L157L|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Silent_p.L160L|RAI14_ENST00000428746.2_Silent_p.L157L|RAI14_ENST00000512629.1_Silent_p.L157L|RAI14_ENST00000397449.1_Silent_p.L150L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	157						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TACCGCTGCTTCTTGCTGTAC	0.423													T|||	1603	0.320088	0.0741	0.4928	5008	,	,		20093	0.3591		0.3907	False		,,,				2504	0.4172				p.L160L		Atlas-SNP	.											.	RAI14	100	.	0			c.T480G						PASS	.	T	,,,,,	549,3857	248.1+/-256.1	44,461,1698	291	283	286		471,471,471,447,480,471	-2	1	5	dbSNP_100	286	3077,5523	473.0+/-368.5	557,1963,1780	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	,,,,,	601,2424,3478	GG,GT,TT		35.7791,12.4603,27.8794	,,,,,	157/981,157/981,157/952,149/973,160/984,157/981	34811137	3626,9380	2203	4300	6503	SO:0001819	synonymous_variant	26064	exon10			GCTGCTTCTTGCT	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.471T>G	5.37:g.34811137T>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	143	75	0.524476	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																			T|0.715;G|0.285	0.285	strong		0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34811137	T	G	34811137	2	3	22	1	0	0	0	0	0	0	0	1	13008	1770	62	5		5	RAI14	5	34811137	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	123320	34811137	146104123	2922	8030										
RAI14	26064	hgsc.bcm.edu	37	chr5	34814745	34814745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccactatcgggaaaggaaTcggtattttttgctgaacca	9	9	0	1	rs150350937		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34814745T>C	ENST00000265109.3	+	12	1197	c.910T>C	c.(910-912)Tcg>Ccg	p.S304P	RAI14_ENST00000506376.1_Missense_Mutation_p.S296P|RAI14_ENST00000503673.1_Missense_Mutation_p.S304P|RAI14_ENST00000515799.1_Missense_Mutation_p.S307P|RAI14_ENST00000428746.2_Missense_Mutation_p.S304P|RAI14_ENST00000512629.1_Missense_Mutation_p.S275P|RAI14_ENST00000397449.1_Missense_Mutation_p.S297P	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	304						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGGAAAGGAATCGGTATTTTT	0.318																																					p.S307P		Atlas-SNP	.											RAI14,scalp,malignant_melanoma,-1,1	RAI14	100	1	0			c.T919C						PASS	.	T	PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER	8,4398	12.9+/-30.5	0,8,2195	174	155	162		910,910,823,886,919,910	3.4	1	5	dbSNP_134	162	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	74,74,74,74,74,74	0,8,6495	CC,CT,TT		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	304/981,304/981,275/952,296/973,307/984,304/981	34814745	8,12998	2203	4300	6503	SO:0001583	missense	26064	exon14			AAGGAATCGGTAT	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.910T>C	5.37:g.34814745T>C	ENSP00000265109:p.Ser304Pro	Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	291	150	0.515464	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050617	0.36181	0.001816	0.0	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38077	1.21;1.16;1.21;1.21;1.22;1.26;1.25	5.86	3.44	0.39384	.	.	.	.	.	T	0.20007	0.0481	N	0.14661	0.345	0.27353	N	0.956195	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.09377	0.004;0.001;0.004;0.001	T	0.14309	-1.0477	9	0.31617	T	0.26	-4.3706	6.5518	0.22438	0.0:0.3208:0.0:0.6792	.	296;275;307;304	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	P	304;275;304;304;307;296;297	ENSP00000265109:S304P;ENSP00000422377:S275P;ENSP00000388725:S304P;ENSP00000422942:S304P;ENSP00000427123:S307P;ENSP00000423854:S296P;ENSP00000380591:S297P	ENSP00000265109:S304P	S	+	1	0	RAI14	34850502	0.963000	0.33076	0.987000	0.45799	0.933000	0.57130	0.571000	0.23669	1.139000	0.42245	0.528000	0.53228	TCG	T|1.000;C|0.000	0.000	weak		0.318	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		C	34814745	T	C	34814745	3	2	22	1	0	0	0	0	1	0	0	0	13008	1435	50	2	1017	2	RAI14	5	34814745	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3608	34814745	146100515	2923	8031										
RAI14	26064	hgsc.bcm.edu	37	chr5	34824555	34824555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagaaatgaaaagatacGctgagagctcttcaaaactg	9	7	2	4	rs1048944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34824555G>T	ENST00000265109.3	+	15	2895	c.2608G>T	c.(2608-2610)Gct>Tct	p.A870S	RAI14_ENST00000506376.1_Missense_Mutation_p.A862S|RAI14_ENST00000503673.1_Missense_Mutation_p.A870S|RAI14_ENST00000515799.1_Missense_Mutation_p.A873S|RAI14_ENST00000428746.2_Missense_Mutation_p.A870S|RAI14_ENST00000512629.1_Missense_Mutation_p.A841S|RAI14_ENST00000397449.1_Missense_Mutation_p.A863S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	870			A -> S (in dbSNP:rs1048944). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGATACGCTGAGAGCTC	0.368													T|||	2186	0.436502	0.2859	0.5879	5008	,	,		19028	0.369		0.4891	False		,,,				2504	0.5481				p.A873S		Atlas-SNP	.											.	RAI14	100	.	0			c.G2617T						PASS	.	T	SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA	1385,3015		252,881,1067	29	30	29		2608,2608,2521,2584,2617,2608	4.4	0.1	5	dbSNP_86	29	4233,4355		1061,2111,1122	yes	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	99,99,99,99,99,99	1313,2992,2189	TT,TG,GG		49.2897,31.4773,43.2553	benign,benign,benign,benign,benign,benign	870/981,870/981,841/952,862/973,873/984,870/981	34824555	5618,7370	2200	4294	6494	SO:0001583	missense	26064	exon17			AGATACGCTGAGA	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2608G>T	5.37:g.34824555G>T	ENSP00000265109:p.Ala870Ser	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	62	38	0.612903	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	928	0.4249084249084249	149	0.30284552845528456	212	0.585635359116022	198	0.34615384615384615	369	0.4868073878627968	T	9.574	1.121851	0.20877	0.314773	0.492897	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.63	4.43	0.53597	.	.	.	.	.	T	0.00012	0.0000	N	0.00670	-1.27	0.80722	P	0.0	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	0.39961	-0.9588	8	0.10111	T	0.7	-2.7917	8.8112	0.34967	0.1267:0.0:0.133:0.7403	rs1048944;rs3189001;rs52791950;rs60733664	862;841;873;870	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	870;841;870;870;873;862;863	ENSP00000265109:A870S;ENSP00000422377:A841S;ENSP00000388725:A870S;ENSP00000422942:A870S;ENSP00000427123:A873S;ENSP00000423854:A862S;ENSP00000380591:A863S	ENSP00000265109:A870S	A	+	1	0	RAI14	34860312	0.249000	0.23941	0.132000	0.22025	0.973000	0.67179	0.620000	0.24403	0.385000	0.24970	-0.375000	0.07067	GCT	A|0.004;C|0.007	.	strong		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		T	34824555	G	T	34824555	3	4	22	1	0	0	0	0	1	0	0	0	13008	1087	38	4	2727	4	RAI14	5	34824555	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9810	34824555	146090705	2924	8032										
TTC23L	153657	hgsc.bcm.edu	37	chr5	34840841	34840841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactgggatttctgcttccAtatgtaagtatcacagcatt	8	9	2	0	rs6451173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34840841A>G	ENST00000505624.1	+	2	168	c.65A>G	c.(64-66)cAt>cGt	p.H22R	CTD-2517O10.6_ENST00000606401.1_RNA|TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	22			H -> R (in dbSNP:rs6451173). {ECO:0000269|PubMed:14702039}.							breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TTCTGCTTCCATATGTAAGTA	0.478													G|||	2693	0.53774	0.8986	0.4121	5008	,	,		17940	0.256		0.5457	False		,,,				2504	0.4213				p.H22R		Atlas-SNP	.											.	TTC23L	47	.	0			c.A65G						PASS	.	G	ARG/HIS	3405,559		1472,461,49	198	193	195		65	-1.2	0	5	dbSNP_116	195	4521,3857		1196,2129,864	yes	missense	TTC23L	NM_144725.3	29	2668,2590,913	GG,GA,AA		46.0372,14.1019,35.7803	benign	22/362	34840841	7926,4416	1982	4189	6171	SO:0001583	missense	153657	exon2			GCTTCCATATGTA		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.65A>G	5.37:g.34840841A>G	ENSP00000422188:p.His22Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	178	84	0.47191	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	CCDS54840.1	1163	0.5325091575091575	430	0.8739837398373984	163	0.45027624309392267	146	0.25524475524475526	424	0.5593667546174143	G	0.541	-0.853436	0.02630	0.858981	0.539628	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.12361	2.69	5.34	-1.25	0.09405	.	0.904334	0.09368	N	0.811725	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.47381	-0.9122	9	0.05721	T	0.95	-9.946	5.6206	0.17455	0.557:0.0:0.3192:0.1237	rs6451173;rs17523522;rs17857470;rs52815487;rs58670304;rs6451173	22	Q6PF05	TT23L_HUMAN	R	22	ENSP00000422188:H22R	ENSP00000425242:H22R	H	+	2	0	TTC23L	34876598	0.013000	0.17824	0.046000	0.18839	0.162000	0.22319	0.234000	0.17930	-0.345000	0.08325	-1.110000	0.02074	CAT	A|0.457;G|0.543	0.543	strong		0.478	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		G	34840841	A	G	34840841	3	3	22	1	0	0	0	0	1	0	0	0	16688	217	8	2	67	2	TTC23L	5	34840841	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16286	34840841	146074419	2925	8033										
RAD1	5810	hgsc.bcm.edu	37	chr5	34914829	34914829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatttgcttgcacacactTtgcattttccactgttactt	5	11	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34914829T>C	ENST00000382038.2	-	2	1588	c.169A>G	c.(169-171)Aag>Gag	p.K57E	BRIX1_ENST00000336767.5_5'Flank|RAD1_ENST00000341754.4_Missense_Mutation_p.K57E	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	57					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGCACACACTTTGCATTTTCC	0.383								Other conserved DNA damage response genes																													p.K57E		Atlas-SNP	.											RAD1,colon,carcinoma,+2,1	RAD1	17	1	0			c.A169G						scavenged	.						176	162	167					5																	34914829		2203	4300	6503	SO:0001583	missense	5810	exon2			CACACTTTGCATT	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"exonuclease homolog RAD1", "checkpoint control protein HRAD1", "cell cycle checkpoint protein Hrad1", "Rad1-like DNA damage checkpoint", "DNA repair exonuclease REC1"	603153	"RAD1 (S. pombe) homolog", "RAD1 homolog (S. pombe)"			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.169A>G	5.37:g.34914829T>C	ENSP00000371469:p.Lys57Glu	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_002853	O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	T	35	5.455151	0.96223	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.17854	2.25;2.25	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.58160	-0.7685	10	0.72032	D	0.01	.	16.0193	0.80468	0.0:0.0:0.0:1.0	.	57	O60671	RAD1_HUMAN	E	57	ENSP00000371469:K57E;ENSP00000340879:K57E	ENSP00000313467:K57E	K	-	1	0	RAD1	34950586	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.368000	0.79567	2.190000	0.69967	0.533000	0.62120	AAG	.	.	none		0.383	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		C	34914829	T	C	34914829	3	2	22	1	0	0	0	0	1	0	0	0	12978	1850	64	2	699	2	RAD1	5	34914829	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73988	34914829	146000431	2926	8034										
DNAJC21	134218	hgsc.bcm.edu	37	chr5	34937649	34937649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagataaaagagtgcaggcGcatcgaaaacttgtggaaga	13	5	0	3	rs77480286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34937649G>A	ENST00000342382.4	+	5	884	c.657G>A	c.(655-657)gcG>gcA	p.A219A	DNAJC21_ENST00000303525.7_Silent_p.A219A|DNAJC21_ENST00000382021.2_Silent_p.A219A			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	219					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A219A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAGTGCAGGCGCATCGAAAAC	0.478													G|||	41	0.0081869	0.0303	0.0014	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0				p.A219A		Atlas-SNP	.											DNAJC21,caecum,carcinoma,0,1	DNAJC21	54	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A						PASS	.	G	,	68,4338	61.1+/-98.1	1,66,2136	77	85	82		657,657	-11.1	0	5	dbSNP_132	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	DNAJC21	NM_001012339.2,NM_194283.3	,	1,68,6434	AA,AG,GG		0.0233,1.5433,0.5382	,	219/532,219/577	34937649	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	134218	exon5			GCAGGCGCATCGA		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.657G>A	5.37:g.34937649G>A		Somatic	257	1	0.00389105		WXS	Illumina HiSeq	Phase_I	228	108	0.473684	NM_001012339	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Silent	SNP	ENST00000342382.4	37	CCDS34144.1																																																																																			G|0.992;A|0.008	0.008	strong		0.478	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		A	34937649	G	A	34937649	2	1	22	1	0	0	0	0	0	0	0	1	4640	1074	38	1		1	DNAJC21	5	34937649	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22820	34937649	145977611	2927	8035										
AGXT2	64902	hgsc.bcm.edu	37	chr5	34998877	34998877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagaacgaaatacttctaCtgcaaaatcaacttctggtt	7	9	3	1	rs16899974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:34998877C>A	ENST00000231420.6	-	14	1692	c.1492G>T	c.(1492-1494)Gta>Tta	p.V498L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	498			V -> L (in dbSNP:rs16899974). {ECO:0000269|Ref.3}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AATACTTCTACTGCAAAATCA	0.373													C|||	1180	0.235623	0.0461	0.2608	5008	,	,		21622	0.4216		0.2266	False		,,,				2504	0.2914				p.V498L		Atlas-SNP	.											.	AGXT2	89	.	0			c.G1492T						PASS	.	C	LEU/VAL	333,4073	175.1+/-204.6	9,315,1879	203	182	189		1492	3.8	1	5	dbSNP_123	189	1972,6628	346.5+/-326.2	219,1534,2547	yes	missense	AGXT2	NM_031900.3	32	228,1849,4426	AA,AC,CC		22.9302,7.5579,17.7226	benign	498/515	34998877	2305,10701	2203	4300	6503	SO:0001583	missense	64902	exon14			CTTCTACTGCAAA	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1492G>T	5.37:g.34998877C>A	ENSP00000231420:p.Val498Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	519	0.23763736263736263	20	0.04065040650406504	93	0.2569060773480663	240	0.4195804195804196	166	0.21899736147757257	C	9.105	1.005038	0.19199	0.075579	0.229302	ENSG00000113492	ENST00000231420	T	0.17691	2.26	5.69	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.481828	0.23060	N	0.052393	T	0.00012	0.0000	L	0.43152	1.355	0.42398	P	0.007441000000000031	B;B	0.23591	0.088;0.002	B;B	0.22753	0.041;0.006	T	0.46816	-0.9164	9	0.16420	T	0.52	-17.7656	10.6159	0.45449	0.1359:0.7889:0.0:0.0753	rs16899974;rs52832203;rs60642487;rs16899974	423;498	E9PDL7;Q9BYV1	.;AGT2_HUMAN	L	498	ENSP00000231420:V498L	ENSP00000231420:V498L	V	-	1	0	AGXT2	35034634	0.992000	0.36948	0.981000	0.43875	0.050000	0.14768	1.044000	0.30329	0.313000	0.23062	-0.813000	0.03139	GTA	C|0.795;A|0.205	0.205	strong		0.373	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		A	34998877	C	A	34998877	3	1	22	1	0	0	0	0	1	0	0	0	405	565	20	4	56	4	AGXT2	5	34998877	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61228	34998877	145916383	2928	8036										
PRLR	5618	hgsc.bcm.edu	37	chr5	35065551	35065551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acataatccaagggtttagcGgagccaaagggggttttctc	12	8	1	0	rs368647716		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35065551G>A	ENST00000382002.5	-	10	1935	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Silent_p.S402S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	503					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.S503S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGGTTTAGCGGAGCCAAAGG	0.517																																					p.S503S		Atlas-SNP	.											PRLR,pharynx,carcinoma,0,1	PRLR	90	1	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C1509T						scavenged	.	G	,,,,,	0,4406		0,0,2203	87	94	92		1509,1206,,,,	3.4	0	5		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron	PRLR	NM_000949.5,NM_001204314.1,NM_001204315.1,NM_001204316.1,NM_001204317.1,NM_001204318.1	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	503/623,402/522,,,,	35065551	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5618	exon10			TTTAGCGGAGCCA		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1509C>T	5.37:g.35065551G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	214	3	0.0140187	NM_000949	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	CCDS3909.1																																																																																			.	.	weak		0.517	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			A	35065551	G	A	35065551	2	1	22	1	0	0	0	0	0	0	0	1	12531	1103	39	1		1	PRLR	5	35065551	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66674	35065551	145849709	2929	8037										
PRLR	5618	hgsc.bcm.edu	37	chr5	35072712	35072712	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcgggttttaatcgaaTttcatacaggagcgtgaacc	9	8	2	1	rs72478580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35072712T>G	ENST00000382002.5	-	6	934	c.508A>C	c.(508-510)Att>Ctt	p.I170L	PRLR_ENST00000397391.3_Missense_Mutation_p.I99L|PRLR_ENST00000231423.3_Missense_Mutation_p.I170L|PRLR_ENST00000310101.5_Missense_Mutation_p.I170L|PRLR_ENST00000348262.3_Missense_Mutation_p.I170L|PRLR_ENST00000511486.1_Missense_Mutation_p.I69L|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.I170L|PRLR_ENST00000342362.5_Missense_Mutation_p.I69L|PRLR_ENST00000542609.1_Missense_Mutation_p.I170L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	170	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> L (in MFAB; confers constitutive activity). {ECO:0000269|PubMed:18779591}.		activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TTTAATCGAATTTCATACAGG	0.443													T|||	63	0.0125799	0.0061	0.0288	5008	,	,		19623	0.0		0.0318	False		,,,				2504	0.0031				p.I170L		Atlas-SNP	.											.	PRLR	90	.	0			c.A508C	GRCh37	CM085654	PRLR	M	rs72478580	PASS	.	T	LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE	33,4373	39.2+/-71.8	0,33,2170	142	138	139		508,205,508,508,508,508	-1	1	5	dbSNP_130	139	206,8394	88.6+/-150.9	4,198,4098	yes	missense,missense,missense,missense,missense,missense	PRLR	NM_000949.5,NM_001204314.1,NM_001204315.1,NM_001204316.1,NM_001204317.1,NM_001204318.1	5,5,5,5,5,5	4,231,6268	GG,GT,TT		2.3953,0.749,1.8376	benign,benign,benign,benign,benign,benign	170/623,69/522,170/350,170/377,170/289,170/269	35072712	239,12767	2203	4300	6503	SO:0001583	missense	5618	exon6			ATCGAATTTCATA		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.508A>C	5.37:g.35072712T>G	ENSP00000371432:p.Ile170Leu	Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	273	142	0.520147	NM_000949	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	40	0.018315018315018316	4	0.008130081300813009	13	0.03591160220994475	0	0.0	23	0.030343007915567283	T	1.860	-0.462984	0.04476	0.00749	0.023953	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.68	-1.03	0.10102	Fibronectin, type III (3);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.468375	0.24592	N	0.037209	T	0.02571	0.0078	N	0.05199	-0.095	0.33895	D	0.637774	B;B;B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B	0.18263	0.002;0.009;0.021;0.004;0.01;0.003;0.003	T	0.23154	-1.0196	10	0.02654	T	1	-4.5229	0.872	0.01216	0.2079:0.3206:0.208:0.2636	.	170;170;69;99;170;170;170	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	L	170;170;170;99;170;69;170;69;170	ENSP00000231423:I170L;ENSP00000424841:I170L;ENSP00000311613:I170L;ENSP00000380546:I99L;ENSP00000441813:I170L;ENSP00000339213:I69L;ENSP00000371432:I170L;ENSP00000422556:I69L;ENSP00000309008:I170L	ENSP00000231423:I170L	I	-	1	0	PRLR	35108469	0.986000	0.35501	0.999000	0.59377	0.603000	0.37013	0.115000	0.15540	0.120000	0.18254	-0.256000	0.11100	ATT	T|0.981;G|0.019	0.019	strong		0.443	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			G	35072712	T	G	35072712	3	3	22	1	0	0	0	0	1	0	0	0	12531	1493	52	5	1380	5	PRLR	5	35072712	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7161	35072712	145842548	2930	8038										
SPEF2	79925	hgsc.bcm.edu	37	chr5	35692775	35692775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctaccaattcagaaaaaTgatgaagaagatgctctacc	7	8	3	5	rs7710284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35692775T>A	ENST00000356031.3	+	12	2002	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	SPEF2_ENST00000509059.1_Missense_Mutation_p.N616K|SPEF2_ENST00000440995.2_Missense_Mutation_p.N616K|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	616			N -> K (in dbSNP:rs7710284).		axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGAAAAATGATGAAGAAG	0.378													A|||	1788	0.357029	0.6195	0.2622	5008	,	,		15916	0.4067		0.1312	False		,,,				2504	0.2505				p.N616K		Atlas-SNP	.											.	SPEF2	324	.	0			c.T1848A						PASS	.	A	LYS/ASN	2023,1663		556,911,376	97	99	98		1848	-3.6	0	5	dbSNP_116	98	1069,7103		64,941,3081	yes	missense	SPEF2	NM_024867.3	94	620,1852,3457	AA,AT,TT		13.0813,45.1167,26.0752	benign	616/1823	35692775	3092,8766	1843	4086	5929	SO:0001583	missense	79925	exon12			GAAAAATGATGAA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1848T>A	5.37:g.35692775T>A	ENSP00000348314:p.Asn616Lys	Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	231	114	0.493506	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	734	0.3360805860805861	315	0.6402439024390244	79	0.21823204419889503	231	0.40384615384615385	109	0.1437994722955145	A	3.896	-0.023008	0.07634	0.548833	0.130813	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.28454	3.43;3.3;3.37;1.61	5.59	-3.6	0.04570	.	0.995051	0.08146	N	0.990813	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43048	-0.9415	9	0.15499	T	0.54	.	4.3977	0.11370	0.2594:0.0:0.2409:0.4998	rs7710284;rs17734895;rs56484158;rs7710284	616;616;616	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	K	616;616;616;127	ENSP00000348314:N616K;ENSP00000421593:N616K;ENSP00000412125:N616K;ENSP00000421744:N127K	ENSP00000348314:N616K	N	+	3	2	SPEF2	35728532	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.388000	0.07352	-1.373000	0.02134	-1.539000	0.00912	AAT	T|0.679;A|0.321	0.321	strong		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		A	35692775	T	A	35692775	3	1	22	1	0	0	0	0	1	0	0	0	15034	1461	51	5	1915	5	SPEF2	5	35692775	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	620063	35692775	145222485	2931	8039										
SPEF2	79925	hgsc.bcm.edu	37	chr5	35694454	35694454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaccagaaacagaaggtgAaacaatgcttagtaagatct	8	6	1	4	rs12332369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35694454A>G	ENST00000356031.3	+	13	2118	c.1964A>G	c.(1963-1965)gAa>gGa	p.E655G	SPEF2_ENST00000509059.1_Intron|SPEF2_ENST00000440995.2_Intron|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	655			E -> G (in dbSNP:rs12332369).		axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAGAAGGTGAAACAATGCTT	0.368													A|||	114	0.0227636	0.0832	0.0058	5008	,	,		17502	0.0		0.0	False		,,,				2504	0.0				p.E655G		Atlas-SNP	.											.	SPEF2	324	.	0			c.A1964G						PASS	.	A	GLY/GLU	258,3442		10,238,1602	93	86	88		1964	3.7	0.9	5	dbSNP_120	88	1,8215		0,1,4107	yes	missense	SPEF2	NM_024867.3	98	10,239,5709	GG,GA,AA		0.0122,6.973,2.1735	benign	655/1823	35694454	259,11657	1850	4108	5958	SO:0001583	missense	79925	exon13			AAGGTGAAACAAT	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1964A>G	5.37:g.35694454A>G	ENSP00000348314:p.Glu655Gly	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	180	89	0.494444	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	39	0.017857142857142856	37	0.07520325203252033	2	0.0055248618784530384	0	0.0	0	0.0	A	11.23	1.576102	0.28092	0.06973	1.22E-4	ENSG00000152582	ENST00000356031	T	0.06449	3.3	3.74	3.74	0.42951	.	0.984296	0.08306	N	0.966202	T	0.00300	0.0009	N	0.22421	0.69	0.80722	D	1	B	0.16166	0.016	B	0.09377	0.004	T	0.46965	-0.9153	10	0.33940	T	0.23	.	9.1268	0.36821	1.0:0.0:0.0:0.0	rs12332369;rs52800439;rs12332369	655	Q9C093	SPEF2_HUMAN	G	655	ENSP00000348314:E655G	ENSP00000348314:E655G	E	+	2	0	SPEF2	35730211	0.746000	0.28272	0.862000	0.33874	0.140000	0.21249	2.047000	0.41269	1.941000	0.56285	0.260000	0.18958	GAA	A|0.973;G|0.027	0.027	strong		0.368	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		G	35694454	A	G	35694454	3	3	22	1	0	0	0	0	1	0	0	0	15034	246	9	2	2035	2	SPEF2	5	35694454	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1679	35694454	145220806	2932	8040										
SPEF2	79925	hgsc.bcm.edu	37	chr5	35779447	35779447	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttagatatggcacctaaAggtaggaaaaataattatca	7	5	2	1	rs2277044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35779447A>C	ENST00000356031.3	+	30	4600	c.4446A>C	c.(4444-4446)aaA>aaC	p.K1482N	SPEF2_ENST00000440995.2_Splice_Site_p.K1477N|SPEF2_ENST00000303129.4_5'UTR|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1482			K -> N (in dbSNP:rs2277044).		axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGCACCTAAAGGTAGGAAAA	0.388													C|||	384	0.0766773	0.1505	0.0058	5008	,	,		18939	0.0397		0.0	False		,,,				2504	0.1442				p.K1482N		Atlas-SNP	.											SPEF2_ENST00000356031,NS,carcinoma,+1,1	SPEF2	324	1	0			c.A4446C						PASS	.	C	ASN/LYS	608,3096		55,498,1299	57	50	52		4446	4.5	1	5	dbSNP_100	52	16,8190		0,16,4087	yes	missense-near-splice	SPEF2	NM_024867.3	94	55,514,5386	CC,CA,AA		0.195,16.4147,5.2393	probably-damaging	1482/1823	35779447	624,11286	1852	4103	5955	SO:0001630	splice_region_variant	79925	exon30			ACCTAAAGGTAGG	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4447+1A>C	5.37:g.35779447A>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	104	0.047619047619047616	83	0.16869918699186992	2	0.0055248618784530384	19	0.033216783216783216	0	0.0	C	17.66	3.445688	0.63178	0.164147	0.00195	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.64085	-0.08;-0.08	5.64	4.48	0.54585	.	0.370098	0.30419	N	0.009667	T	0.00384	0.0012	L	0.38175	1.15	0.09310	P	1.0	D;D	0.76494	0.999;0.995	D;P	0.68192	0.956;0.722	T	0.10314	-1.0635	9	0.25751	T	0.34	.	11.6457	0.51259	0.8515:0.1485:0.0:0.0	rs2277044;rs2277044	1477;1482	Q9C093-2;Q9C093	.;SPEF2_HUMAN	N	1482;1477	ENSP00000348314:K1482N;ENSP00000412125:K1477N	ENSP00000348314:K1482N	K	+	3	2	SPEF2	35815204	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	2.266000	0.43320	1.153000	0.42468	-0.264000	0.10439	AAA	A|0.949;C|0.051	0.051	strong		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Missense_Mutation	C	35779447	A	C	35779447	5	2	22	1	0	0	0	0	0	0	1	0	15034	86	3	5	4585	5	SPEF2	5	35779447	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84993	35779447	145135813	2933	8041										
UGT3A1	133688	hgsc.bcm.edu	37	chr5	35957462	35957462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgggtgttcaacatggaGccaaaggccacaaggacaaa	12	8	1	1	rs10428673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:35957462G>A	ENST00000274278.3	-	5	1260	c.903C>T	c.(901-903)ggC>ggT	p.G301G	UGT3A1_ENST00000507113.1_Silent_p.G267G|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.G301G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	301						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACATGGAGCCAAAGGCCA	0.488													G|||	40	0.00798722	0.028	0.0043	5008	,	,		20323	0.0		0.0	False		,,,				2504	0.0				p.G301G		Atlas-SNP	.											.	UGT3A1	95	.	0			c.C903T						PASS	.	G		109,4297		1,107,2095	104	90	95		903	1.4	1	5	dbSNP_119	95	2,8598		0,2,4298	no	coding-synonymous	UGT3A1	NM_152404.3		1,109,6393	AA,AG,GG		0.0233,2.4739,0.8535		301/524	35957462	111,12895	2203	4300	6503	SO:0001819	synonymous_variant	133688	exon5			CATGGAGCCAAAG		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.903C>T	5.37:g.35957462G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	135	69	0.511111	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	CCDS3913.1																																																																																			G|0.991;A|0.009	0.009	strong		0.488	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		A	35957462	G	A	35957462	2	1	22	1	0	0	0	0	0	0	0	1	16960	958	34	2		2	UGT3A1	5	35957462	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	178015	35957462	144957798	2934	8042										
UGT3A2	167127	hgsc.bcm.edu	37	chr5	36049324	36049324	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccaaattccaaagagccGaatgaagtggaaagaatggc	11	8	0	3	rs148290056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:36049324G>A	ENST00000282507.3	-	4	611	c.510C>T	c.(508-510)ttC>ttT	p.F170F	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.F136F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	170					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAGAGCCGAATGAAGTGG	0.453																																					p.F170F		Atlas-SNP	.											.	UGT3A2	117	.	0			c.C510T						PASS	.	G	,	33,4373	39.2+/-71.8	0,33,2170	87	82	84		408,510	-2.3	0	5	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UGT3A2	NM_001168316.1,NM_174914.3	,	0,33,6470	AA,AG,GG		0.0,0.749,0.2537	,	136/490,170/524	36049324	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	167127	exon4			AGAGCCGAATGAA		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.510C>T	5.37:g.36049324G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	112	46	0.410714	NM_174914	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	CCDS3914.1																																																																																			G|0.996;A|0.004	0.004	strong		0.453	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36049324	G	A	36049324	2	1	22	1	0	0	0	0	0	0	0	1	16961	1049	37	1		1	UGT3A2	5	36049324	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91862	36049324	144865936	2935	8043										
RANBP3L	202151	hgsc.bcm.edu	37	chr5	36257134	36257134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgggaagagaatgcagcaGctgattcaattagggaagta	14	4	1	2	rs16902872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:36257134G>A	ENST00000296604.3	-	10	1297	c.812C>T	c.(811-813)gCt>gTt	p.A271V	RANBP3L_ENST00000515759.1_Missense_Mutation_p.A271V|RANBP3L_ENST00000502994.1_Missense_Mutation_p.A296V	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	271			A -> V (in dbSNP:rs16902872).		intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GAATGCAGCAGCTGATTCAAT	0.363													G|||	434	0.0866613	0.3132	0.0245	5008	,	,		15384	0.0		0.003	False		,,,				2504	0.0				p.A296V		Atlas-SNP	.											.	RANBP3L	41	.	0			c.C887T						PASS	.	G	VAL/ALA,VAL/ALA	1170,3236	408.6+/-334.7	146,878,1179	107	99	102		887,812	5.4	1	5	dbSNP_123	102	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	RANBP3L	NM_001161429.1,NM_145000.3	64,64	146,882,5475	AA,AG,GG		0.0465,26.5547,9.0266	probably-damaging,probably-damaging	296/491,271/466	36257134	1174,11832	2203	4300	6503	SO:0001583	missense	202151	exon11			GCAGCAGCTGATT	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.812C>T	5.37:g.36257134G>A	ENSP00000296604:p.Ala271Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	136	75	0.551471	NM_001161429	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	167	0.07646520146520147	158	0.32113821138211385	7	0.019337016574585635	0	0.0	2	0.002638522427440633	G	29.6	5.023090	0.93462	0.265547	4.65E-4	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.59364	1.43;1.4;0.27	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.00012	0.0000	M	0.68952	2.095	0.18873	P	0.9999869983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00621	-1.1640	9	0.87932	D	0	-18.1197	18.337	0.90291	0.0:0.0:1.0:0.0	rs16902872;rs52805488;rs16902872	296;271	E9PGP9;Q86VV4	.;RNB3L_HUMAN	V	271;296;271	ENSP00000296604:A271V;ENSP00000421853:A296V;ENSP00000421149:A271V	ENSP00000296604:A271V	A	-	2	0	RANBP3L	36292891	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.191000	0.77763	2.697000	0.92050	0.591000	0.81541	GCT	G|0.906;A|0.094	0.094	strong		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		A	36257134	G	A	36257134	3	1	22	1	0	0	0	0	1	0	0	0	13030	971	34	2	605	2	RANBP3L	5	36257134	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	207810	36257134	144658126	2936	8044										
NIPBL	25836	hgsc.bcm.edu	37	chr5	36985751	36985751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccatgataataaacaaaaAtcagatgacaggggtgaatc	9	6	1	4	rs293756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:36985751A>G	ENST00000282516.8	+	10	2968	c.2469A>G	c.(2467-2469)aaA>aaG	p.K823K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.K823K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	823					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATAAACAAAAATCAGATGACA	0.443													A|||	183	0.0365415	0.1354	0.0058	5008	,	,		19980	0.0		0.0	False		,,,				2504	0.0				p.K823K		Atlas-SNP	.											.	NIPBL	513	.	0			c.A2469G						PASS	.	A	,	506,3900	231.0+/-245.0	27,452,1724	68	67	67		2469,2469	-0.5	1	5	dbSNP_79	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NIPBL	NM_015384.4,NM_133433.3	,	27,453,6023	GG,GA,AA		0.0116,11.4843,3.8982	,	823/2698,823/2805	36985751	507,12499	2203	4300	6503	SO:0001819	synonymous_variant	25836	exon10			ACAAAAATCAGAT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2469A>G	5.37:g.36985751A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	185	101	0.545946	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																			A|0.961;G|0.039	0.039	strong		0.443	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	36985751	A	G	36985751	2	3	22	1	0	0	0	0	0	0	0	1	10428	98	4	2		2	NIPBL	5	36985751	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	728617	36985751	143929509	2937	8045										
NIPBL	25836	hgsc.bcm.edu	37	chr5	36986297	36986297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaagcctgtagttgtgctAcaaaaactgtctttggatga	10	7	1	1	rs1669445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:36986297A>G	ENST00000282516.8	+	10	3514	c.3015A>G	c.(3013-3015)ctA>ctG	p.L1005L	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.L1005L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1005					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAGTTGTGCTACAAAAACTGT	0.333													A|||	184	0.0367412	0.1362	0.0058	5008	,	,		17335	0.0		0.0	False		,,,				2504	0.0				p.L1005L		Atlas-SNP	.											.	NIPBL	513	.	0			c.A3015G						PASS	.	A	,	504,3902	228.1+/-243.1	27,450,1726	130	147	141	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3015,3015	1.7	1	5	dbSNP_89	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NIPBL	NM_015384.4,NM_133433.3	,	27,451,6025	GG,GA,AA		0.0116,11.4389,3.8828	,	1005/2698,1005/2805	36986297	505,12501	2203	4300	6503	SO:0001819	synonymous_variant	25836	exon10			TGTGCTACAAAAA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3015A>G	5.37:g.36986297A>G		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	45	22	0.488889	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																			A|0.961;G|0.039	0.039	strong		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	36986297	A	G	36986297	2	3	22	1	0	0	0	0	0	0	0	1	10428	378	14	2		2	NIPBL	5	36986297	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	546	36986297	143928963	2938	8046										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37115116	37115116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttactgctgctttggctcCaccagcttttttctgtatgg	8	11	2	0	rs7702892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37115116C>T	ENST00000508244.1	-	49	9277	c.9184G>A	c.(9184-9186)Gga>Aga	p.G3062R	C5orf42_ENST00000274258.7_Missense_Mutation_p.G1960R|C5orf42_ENST00000425232.2_Missense_Mutation_p.G3062R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3062			G -> R (in dbSNP:rs7702892).			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTTTGGCTCCACCAGCTTTT	0.363													C|||	124	0.0247604	0.0908	0.0058	5008	,	,		18889	0.0		0.0	False		,,,				2504	0.0				p.G3062R		Atlas-SNP	.											C5orf42_ENST00000425232,bladder,carcinoma,+1,2	C5orf42	422	2	0			c.G9184A						PASS	.	C	ARG/GLY	340,4066	175.5+/-204.9	13,314,1876	101	90	93		9184	2	0	5	dbSNP_116	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C5orf42	NM_023073.3	125	13,316,6174	TT,TC,CC		0.0233,7.7167,2.6296	benign	3062/3198	37115116	342,12664	2203	4300	6503	SO:0001583	missense	65250	exon50			TGGCTCCACCAGC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9184G>A	5.37:g.37115116C>T	ENSP00000421690:p.Gly3062Arg	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	45	0.020604395604395604	43	0.08739837398373984	2	0.0055248618784530384	0	0.0	0	0.0	C	13.98	2.398422	0.42512	0.077167	2.33E-4	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.22945	1.94;1.94;1.93;1.93	3.78	1.97	0.26223	.	1.267940	0.05991	U	0.646004	T	0.00608	0.0020	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.15052	0.012;0.01	T	0.26224	-1.0109	10	0.25751	T	0.34	.	6.7291	0.23373	0.0:0.7655:0.0:0.2345	rs7702892;rs52808859;rs7702892	3062;1960	E9PH94;Q9H799	.;CE042_HUMAN	R	3062;3062;1960;2128	ENSP00000421690:G3062R;ENSP00000389014:G3062R;ENSP00000274258:G1960R;ENSP00000424223:G2128R	ENSP00000274258:G1960R	G	-	1	0	C5orf42	37150873	0.000000	0.05858	0.013000	0.15412	0.825000	0.46686	0.020000	0.13466	0.353000	0.24079	-0.137000	0.14449	GGA	C|0.970;T|0.030	0.030	strong		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37115116	C	T	37115116	3	4	22	1	0	0	0	0	1	0	0	0	2301	603	21	2	421	2	C5orf42	5	37115116	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	128819	37115116	143800144	2939	8047										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37158363	37158363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtattgagggtgaccaaGgtttctctgacatttcactg	12	7	2	3	rs16903518	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37158363G>A	ENST00000508244.1	-	38	7868	c.7775C>T	c.(7774-7776)cCt>cTt	p.P2592L	C5orf42_ENST00000274258.7_Missense_Mutation_p.P1472L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2592L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2592			P -> L (in dbSNP:rs16903518).			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGGTGACCAAGGTTTCTCTGA	0.368													G|||	122	0.024361	0.09	0.0043	5008	,	,		17612	0.0		0.0	False		,,,				2504	0.0				p.P2592L		Atlas-SNP	.											.	C5orf42	422	.	0			c.C7775T						PASS	.	G	LEU/PRO	340,4066	177.3+/-206.3	13,314,1876	129	125	127		7775	3	0	5	dbSNP_123	127	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C5orf42	NM_023073.3	98	13,316,6174	AA,AG,GG		0.0233,7.7167,2.6296	benign	2592/3198	37158363	342,12664	2203	4300	6503	SO:0001583	missense	65250	exon39			GACCAAGGTTTCT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7775C>T	5.37:g.37158363G>A	ENSP00000421690:p.Pro2592Leu	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	183	92	0.502732	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	45	0.020604395604395604	43	0.08739837398373984	2	0.0055248618784530384	0	0.0	0	0.0	G	7.667	0.686250	0.14973	0.077167	2.33E-4	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.70631	-0.5;-0.5;1.32;1.35	4.88	3.02	0.34903	.	0.626374	0.14293	N	0.328786	T	0.05410	0.0143	L	0.46157	1.445	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.12156	0.004;0.007	T	0.19257	-1.0311	10	0.62326	D	0.03	.	8.7051	0.34349	0.2574:0.0:0.7426:0.0	rs16903518;rs52830390;rs16903518	2592;1472	E9PH94;Q9H799	.;CE042_HUMAN	L	2592;2592;1472;1640;1472	ENSP00000421690:P2592L;ENSP00000389014:P2592L;ENSP00000274258:P1472L;ENSP00000424223:P1640L	ENSP00000274258:P1472L	P	-	2	0	C5orf42	37194120	0.609000	0.26975	0.007000	0.13788	0.048000	0.14542	1.796000	0.38794	0.704000	0.31869	0.563000	0.77884	CCT	G|0.970;A|0.030	0.030	strong		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37158363	G	A	37158363	3	1	22	1	0	0	0	0	1	0	0	0	2301	1000	35	2	1874	2	C5orf42	5	37158363	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43247	37158363	143756897	2940	8048										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37173977	37173977	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggagcaggtggttgtgaAgcaacattgactccatttga	13	6	0	3	rs61746147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37173977A>G	ENST00000508244.1	-	31	6144	c.6051T>C	c.(6049-6051)gcT>gcC	p.A2017A	C5orf42_ENST00000274258.7_Silent_p.A897A|C5orf42_ENST00000425232.2_Silent_p.A2017A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2017						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTGGTTGTGAAGCAACATTGA	0.418													A|||	122	0.024361	0.09	0.0043	5008	,	,		16616	0.0		0.0	False		,,,				2504	0.0				p.A2017A		Atlas-SNP	.											.	C5orf42	422	.	0			c.T6051C						PASS	.	A		341,4065	178.0+/-206.8	13,315,1875	140	133	135		6051	1.9	0.9	5	dbSNP_129	135	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	C5orf42	NM_023073.3		13,317,6173	GG,GA,AA		0.0233,7.7394,2.6372		2017/3198	37173977	343,12663	2203	4300	6503	SO:0001819	synonymous_variant	65250	exon32			TTGTGAAGCAACA		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6051T>C	5.37:g.37173977A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	90	43	0.477778	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																			A|0.974;G|0.026	0.026	strong		0.418	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37173977	A	G	37173977	2	3	22	1	0	0	0	0	0	0	0	1	2301	59	3	3		3	C5orf42	5	37173977	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15614	37173977	143741283	2941	8049										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37182940	37182940	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatgtaagaatggcagcTgtagaggtctttacacgaat	11	5	1	3	rs73750949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37182940T>A	ENST00000508244.1	-	25	5436	c.5343A>T	c.(5341-5343)acA>acT	p.T1781T	C5orf42_ENST00000274258.7_Silent_p.T662T|C5orf42_ENST00000425232.2_Silent_p.T1781T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1781						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAATGGCAGCTGTAGAGGTCT	0.363													T|||	144	0.028754	0.1067	0.0043	5008	,	,		18465	0.0		0.0	False		,,,				2504	0.0				p.T1781T		Atlas-SNP	.											.	C5orf42	422	.	0			c.A5343T						PASS	.	T		416,3990	203.1+/-225.7	20,376,1807	83	77	79		5343	1.2	1	5	dbSNP_130	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf42	NM_023073.3		20,377,6106	AA,AT,TT		0.0116,9.4417,3.2062		1781/3198	37182940	417,12589	2203	4300	6503	SO:0001819	synonymous_variant	65250	exon26			GGCAGCTGTAGAG		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5343A>T	5.37:g.37182940T>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																			T|0.973;A|0.027	0.027	strong		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37182940	T	A	37182940	2	1	22	1	0	0	0	0	0	0	0	1	2301	1567	55	5		5	C5orf42	5	37182940	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8963	37182940	143732320	2942	8050										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37226888	37226888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagaatgtaaaaaaaatgAgtgatacaaactactatgta	7	3	0	4	rs115435816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37226888A>G	ENST00000508244.1	-	11	1902	c.1809T>C	c.(1807-1809)acT>acC	p.T603T	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Silent_p.T603T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	603						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAAAAAAATGAGTGATACAAA	0.284													A|||	92	0.0183706	0.0673	0.0043	5008	,	,		18803	0.0		0.0	False		,,,				2504	0.0				p.T603T		Atlas-SNP	.											.	C5orf42	422	.	0			c.T1809C						PASS	.	A		89,1295		5,79,608	46	38	40		1809	4.1	1	5	dbSNP_132	40	1,3175		0,1,1587	no	coding-synonymous	C5orf42	NM_023073.3		5,80,2195	GG,GA,AA		0.0315,6.4306,1.9737		603/3198	37226888	90,4470	692	1588	2280	SO:0001819	synonymous_variant	65250	exon12			AAAATGAGTGATA		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1809T>C	5.37:g.37226888A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																			A|0.984;G|0.016	0.016	strong		0.284	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37226888	A	G	37226888	2	3	22	1	0	0	0	0	0	0	0	1	2301	291	11	3		3	C5orf42	5	37226888	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43948	37226888	143688372	2943	8051										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37244669	37244669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatgagcacaattcttttCccatttccagatacatacaa	4	10	1	2	rs73750958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37244669C>T	ENST00000508244.1	-	4	471	c.378G>A	c.(376-378)ggG>ggA	p.G126G	C5orf42_ENST00000274258.7_5'UTR|RN7SL37P_ENST00000490461.2_RNA|C5orf42_ENST00000425232.2_Silent_p.G126G			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	126						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAATTCTTTTCCCATTTCCAG	0.348													C|||	153	0.0305511	0.1127	0.0043	5008	,	,		18071	0.0		0.001	False		,,,				2504	0.0				p.G126G		Atlas-SNP	.											.	C5orf42	422	.	0			c.G378A						PASS	.	C		145,1239		8,129,555	70	61	64		378	1.9	1	5	dbSNP_130	64	0,3182		0,0,1591	no	coding-synonymous	C5orf42	NM_023073.3		8,129,2146	TT,TC,CC		0.0,10.4769,3.1756		126/3198	37244669	145,4421	692	1591	2283	SO:0001819	synonymous_variant	65250	exon5			TCTTTTCCCATTT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.378G>A	5.37:g.37244669C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	136	49	0.360294	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																			C|0.980;T|0.020	0.020	strong		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37244669	C	T	37244669	2	4	22	1	0	0	0	0	0	0	0	1	2301	842	30	2		2	C5orf42	5	37244669	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17781	37244669	143670591	2944	8052										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37245935	37245935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatcatccaaaagaaaaaCggcttctttttcctaagaga	5	8	2	2	rs73750959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37245935C>T	ENST00000508244.1	-	2	187	c.94G>A	c.(94-96)Gtt>Att	p.V32I	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.V32I|RN7SL37P_ENST00000490461.2_RNA			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	32						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAAAGAAAAACGGCTTCTTTT	0.328													C|||	152	0.0303514	0.1127	0.0043	5008	,	,		15998	0.0		0.0	False		,,,				2504	0.0				p.V32I		Atlas-SNP	.											.	C5orf42	422	.	0			c.G94A						PASS	.	C	ILE/VAL	145,1239		8,129,555	77	69	71		94	4.3	1	5	dbSNP_130	71	0,3176		0,0,1588	yes	missense	C5orf42	NM_023073.3	29	8,129,2143	TT,TC,CC		0.0,10.4769,3.1798	possibly-damaging	32/3198	37245935	145,4415	692	1588	2280	SO:0001583	missense	65250	exon3			GAAAAACGGCTTC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.94G>A	5.37:g.37245935C>T	ENSP00000421690:p.Val32Ile	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	53	0.024267399267399268	52	0.10569105691056911	1	0.0027624309392265192	0	0.0	0	0.0	C	12.59	1.983446	0.35036	0.104769	0.0	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.51817	0.69;0.69	5.34	4.35	0.52113	.	0.391851	0.21991	U	0.066147	T	0.00724	0.0024	L	0.41824	1.3	0.80722	D	1	P	0.51351	0.944	B	0.37198	0.243	T	0.00783	-1.1568	10	0.59425	D	0.04	-10.2005	12.5366	0.56145	0.0:0.8874:0.0:0.1126	.	32	E9PH94	.	I	32	ENSP00000421690:V32I;ENSP00000389014:V32I	ENSP00000389014:V32I	V	-	1	0	C5orf42	37281692	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	3.683000	0.54663	2.497000	0.84241	0.313000	0.20887	GTT	C|0.980;T|0.020	0.020	strong		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37245935	C	T	37245935	3	4	22	1	0	0	0	0	1	0	0	0	2301	536	19	1	9699	1	C5orf42	5	37245935	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1266	37245935	143669325	2945	8053										
NUP155	9631	hgsc.bcm.edu	37	chr5	37294473	37294473	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaacttctagtagtctaggTaatggtactccaatttcatt	6	7	3	0	rs1045908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37294473T>C	ENST00000231498.3	-	33	4091	c.3888A>G	c.(3886-3888)ttA>ttG	p.L1296L	NUP155_ENST00000513532.1_Silent_p.L1232L|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.L1237L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1296					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.L1296L(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGTCTAGGTAATGGTACTC	0.308													T|||	1388	0.277157	0.112	0.3156	5008	,	,		15068	0.3829		0.2972	False		,,,				2504	0.3436				p.L1296L		Atlas-SNP	.											NUP155,NS,carcinoma,0,1	NUP155	116	1	1	Substitution - coding silent(1)	stomach(1)	c.A3888G						PASS	.	T	,	636,3770	270.7+/-269.8	41,554,1608	52	48	49		3711,3888	1.6	1	5	dbSNP_86	49	2519,6081	409.4+/-349.8	354,1811,2135	no	coding-synonymous,coding-synonymous	NUP155	NM_004298.2,NM_153485.1	,	395,2365,3743	CC,CT,TT		29.2907,14.4349,24.258	,	1237/1333,1296/1392	37294473	3155,9851	2203	4300	6503	SO:0001819	synonymous_variant	9631	exon33			TCTAGGTAATGGT	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3888A>G	5.37:g.37294473T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	158	78	0.493671	NM_153485	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																			T|0.750;C|0.250	0.250	strong		0.308	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		C	37294473	T	C	37294473	2	2	22	1	0	0	0	0	0	0	0	1	10756	1635	57	2		2	NUP155	5	37294473	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48538	37294473	143620787	2946	8054										
NUP155	9631	hgsc.bcm.edu	37	chr5	37299007	37299007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtgccagcataaattttGccaaggagaacaatcttgag	11	7	1	2	rs216400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37299007G>A	ENST00000231498.3	-	32	3959	c.3756C>T	c.(3754-3756)ggC>ggT	p.G1252G	NUP155_ENST00000513532.1_Silent_p.G1188G|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.G1193G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1252					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAAATTTTGCCAAGGAGAA	0.408													G|||	150	0.0299521	0.1112	0.0043	5008	,	,		18740	0.0		0.0	False		,,,				2504	0.0				p.G1252G		Atlas-SNP	.											.	NUP155	116	.	0			c.C3756T						PASS	.	G	,	437,3969	210.5+/-231.0	24,389,1790	134	119	124		3579,3756	0.7	1	5	dbSNP_79	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NUP155	NM_004298.2,NM_153485.1	,	24,390,6089	AA,AG,GG		0.0116,9.9183,3.3677	,	1193/1333,1252/1392	37299007	438,12568	2203	4300	6503	SO:0001819	synonymous_variant	9631	exon32			AATTTTGCCAAGG	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3756C>T	5.37:g.37299007G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	108	40	0.37037	NM_153485	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																			G|0.967;A|0.033	0.033	strong		0.408	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		A	37299007	G	A	37299007	2	1	22	1	0	0	0	0	0	0	0	1	10756	1306	46	2		2	NUP155	5	37299007	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4534	37299007	143616253	2947	8055										
NUP155	9631	hgsc.bcm.edu	37	chr5	37310765	37310765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtagcagttgataagagaAgcaattaatgcccctgtgag	11	6	0	3	rs53429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:37310765A>G	ENST00000231498.3	-	23	2720	c.2517T>C	c.(2515-2517)gcT>gcC	p.A839A	NUP155_ENST00000513532.1_Intron|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.A780A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	839					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAGAGAAGCAATTAATG	0.398													A|||	150	0.0299521	0.1112	0.0043	5008	,	,		14358	0.0		0.0	False		,,,				2504	0.0				p.A839A		Atlas-SNP	.											.	NUP155	116	.	0			c.T2517C						PASS	.	A	,	438,3968	210.5+/-231.0	24,390,1789	152	152	152		2340,2517	1.6	1	5	dbSNP_80	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NUP155	NM_004298.2,NM_153485.1	,	24,391,6088	GG,GA,AA		0.0116,9.941,3.3754	,	780/1333,839/1392	37310765	439,12567	2203	4300	6503	SO:0001819	synonymous_variant	9631	exon23			AAGAGAAGCAATT	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2517T>C	5.37:g.37310765A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	54	0.465517	NM_153485	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																			A|0.962;C|0.000	.	strong		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		G	37310765	A	G	37310765	2	3	22	1	0	0	0	0	0	0	0	1	10756	59	3	3		3	NUP155	5	37310765	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11758	37310765	143604495	2948	8056										
EGFLAM	133584	hgsc.bcm.edu	37	chr5	38370537	38370537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccccagcccccgcagcTggcccagtgacatcatccgg	11	18	1	1	rs1465567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38370537T>C	ENST00000354891.3	+	6	1031	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	EGFLAM_ENST00000322350.5_Missense_Mutation_p.W229R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	229	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		W -> R (in dbSNP:rs1465567).		extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.W229R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCCCGCAGCTGGCCCAGTGA	0.567													T|||	1288	0.257188	0.4372	0.1354	5008	,	,		17182	0.1796		0.2038	False		,,,				2504	0.2352				p.W229R	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											EGFLAM,NS,carcinoma,0,1	EGFLAM	302	1	1	Substitution - Missense(1)	stomach(1)	c.T685C						PASS	.	T	ARG/TRP,ARG/TRP	1746,2660	520.6+/-370.3	349,1048,806	43	42	42		685,685	-2	0	5	dbSNP_88	42	1663,6937	305.6+/-307.5	175,1313,2812	yes	missense,missense	EGFLAM	NM_001205301.1,NM_152403.3	101,101	524,2361,3618	CC,CT,TT		19.3372,39.6278,26.211	benign,benign	229/1018,229/1010	38370537	3409,9597	2203	4300	6503	SO:0001583	missense	133584	exon6			CGCAGCTGGCCCA	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.685T>C	5.37:g.38370537T>C	ENSP00000346964:p.Trp229Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	84	83	0.988095	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	565	0.2586996336996337	239	0.48577235772357724	58	0.16022099447513813	118	0.2062937062937063	150	0.19788918205804748	T	7.093	0.572574	0.13623	0.396278	0.193372	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.52057	0.68;0.68	5.82	-2.02	0.07388	Fibronectin, type III (2);Immunoglobulin-like fold (1);	2.059790	0.01504	N	0.017616	T	0.00012	0.0000	N	0.01761	-0.735	0.53688	P	2.6999999999999247E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35847	-0.9772	9	0.06625	T	0.88	-0.0747	5.516	0.16906	0.0841:0.6017:0.2313:0.083	rs1465567;rs1465567	229;229	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	R	229	ENSP00000346964:W229R;ENSP00000313084:W229R	ENSP00000313084:W229R	W	+	1	0	EGFLAM	38406294	0.000000	0.05858	0.016000	0.15963	0.941000	0.58515	-0.353000	0.07691	-0.389000	0.07786	-0.379000	0.06801	TGG	T|0.741;C|0.259	0.259	strong		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38370537	T	C	38370537	3	2	22	1	0	0	0	0	1	0	0	0	4966	1580	55	3	707	3	EGFLAM	5	38370537	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1059772	38370537	142544723	2949	8057										
EGFLAM	133584	hgsc.bcm.edu	37	chr5	38412674	38412674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaactagggggttggcacaCggttatgctctacagagatg	13	8	1	1	rs16903965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38412674C>T	ENST00000354891.3	+	11	1764	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.T473M|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.T239M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	473	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> M (in dbSNP:rs16903965). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGTTGGCACACGGTTATGCTC	0.512													C|||	617	0.123203	0.1059	0.0476	5008	,	,		17477	0.2381		0.1392	False		,,,				2504	0.0654				p.T473M	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											.	EGFLAM	302	.	0			c.C1418T						PASS	.	C	MET/THR,MET/THR,MET/THR	372,4034	189.9+/-215.9	20,332,1851	97	94	95		1418,1418,716	5.2	0.8	5	dbSNP_123	95	848,7752	193.8+/-239.4	44,760,3496	yes	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	81,81,81	64,1092,5347	TT,TC,CC		9.8605,8.443,9.3803	possibly-damaging,possibly-damaging,possibly-damaging	473/1018,473/1010,239/776	38412674	1220,11786	2203	4300	6503	SO:0001583	missense	133584	exon11			GGCACACGGTTAT	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1418C>T	5.37:g.38412674C>T	ENSP00000346964:p.Thr473Met	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	300	0.13736263736263737	35	0.07113821138211382	19	0.052486187845303865	131	0.229020979020979	115	0.1517150395778364	C	13.76	2.333393	0.41297	0.08443	0.098605	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.76448	-1.02;-1.02;-1.02	6.07	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.357840	0.33401	N	0.004955	T	0.00178	0.0005	M	0.84511	2.7	0.09310	P	0.9999999999999996	D;D;D	0.71674	0.995;0.997;0.998	P;D;P	0.63793	0.839;0.918;0.896	T	0.37842	-0.9688	9	0.66056	D	0.02	-0.4212	6.8131	0.23814	0.0:0.6476:0.1859:0.1665	rs16903965;rs17855880;rs52789261;rs57587907;rs16903965	239;473;473	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	M	473;473;239;239	ENSP00000346964:T473M;ENSP00000313084:T473M;ENSP00000337607:T239M	ENSP00000313084:T473M	T	+	2	0	EGFLAM	38448431	0.832000	0.29368	0.812000	0.32479	0.131000	0.20780	1.374000	0.34283	1.489000	0.48450	-0.355000	0.07637	ACG	C|0.891;T|0.109	0.109	strong		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		T	38412674	C	T	38412674	3	4	22	1	0	0	0	0	1	0	0	0	4966	536	19	1	1474	1	EGFLAM	5	38412674	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42137	38412674	142502586	2950	8058										
EGFLAM	133584	hgsc.bcm.edu	37	chr5	38425110	38425110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatgaggcctcgtgcatcCatggtggcacctgcacagca	13	12	0	2	rs6897179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38425110C>A	ENST00000354891.3	+	13	2072	c.1726C>A	c.(1726-1728)Cat>Aat	p.H576N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.H576N|EGFLAM_ENST00000397202.2_De_novo_Start_OutOfFrame|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.H342N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	576	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		H -> N (in dbSNP:rs6897179).		extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTCGTGCATCCATGGTGGCAC	0.498													A|||	659	0.131589	0.3699	0.0965	5008	,	,		17534	0.0536		0.0268	False		,,,				2504	0.0225				p.H576N	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											.	EGFLAM	302	.	0			c.C1726A						PASS	.	A	ASN/HIS,ASN/HIS,ASN/HIS	1305,3101	698.1+/-406.3	194,917,1092	169	156	161		1726,1726,1024	3.4	0.5	5	dbSNP_116	161	206,8394	810.1+/-407.1	1,204,4095	yes	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	68,68,68	195,1121,5187	AA,AC,CC		2.3953,29.6187,11.6177	benign,benign,benign	576/1018,576/1010,342/776	38425110	1511,11495	2203	4300	6503	SO:0001583	missense	133584	exon13			TGCATCCATGGTG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1726C>A	5.37:g.38425110C>A	ENSP00000346964:p.His576Asn	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	165	82	0.49697	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	255	0.11675824175824176	173	0.3516260162601626	28	0.07734806629834254	34	0.05944055944055944	20	0.026385224274406333	A	4.570	0.105940	0.08780	0.296187	0.023953	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.90620	-2.7;-2.7;-2.7	5.91	3.44	0.39384	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.090430	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00514	-1.41	0.09310	P	1.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.19289	-1.0310	9	0.02654	T	1	-12.699	13.906	0.63836	0.6415:0.3585:0.0:0.0	rs6897179;rs52828439;rs58194950;rs6897179	342;576;576	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	576;576;342;342	ENSP00000346964:H576N;ENSP00000313084:H576N;ENSP00000337607:H342N	ENSP00000313084:H576N	H	+	1	0	EGFLAM	38460867	1.000000	0.71417	0.465000	0.27155	0.901000	0.52897	4.561000	0.60809	0.112000	0.17975	-0.256000	0.11100	CAT	C|0.880;A|0.120	0.120	strong		0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38425110	C	A	38425110	3	1	22	1	0	0	0	0	1	0	0	0	4966	594	21	4	1790	4	EGFLAM	5	38425110	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12436	38425110	142490150	2951	8059										
LIFR	3977	hgsc.bcm.edu	37	chr5	38510768	38510768	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaatgttatgtctgagccTacaagtatcactttatcttg	6	8	3	1	rs141925289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38510768T>C	ENST00000263409.4	-	7	951	c.789A>G	c.(787-789)gtA>gtG	p.V263V	LIFR_ENST00000453190.2_Silent_p.V263V|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	263					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTCTGAGCCTACAAGTATCA	0.348			T	PLAG1	salivary adenoma								T|||	21	0.00419329	0.0159	0.0	5008	,	,		17591	0.0		0.0	False		,,,				2504	0.0				p.V263V	Melanoma(13;4 730 6426 9861 34751)	Atlas-SNP	.		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	LIFR	348	.	0			c.A789G						PASS	.	T	,	38,4368	40.0+/-72.8	0,38,2165	80	73	76		789,789	-0.2	1	5	dbSNP_134	76	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous	LIFR	NM_001127671.1,NM_002310.5	,	0,38,6465	CC,CT,TT		0.0,0.8625,0.2922	,	263/1098,263/1098	38510768	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	3977	exon7			TGAGCCTACAAGT	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.789A>G	5.37:g.38510768T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_002310	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																			T|0.997;C|0.003	0.003	strong		0.348	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		C	38510768	T	C	38510768	2	2	22	1	0	0	0	0	0	0	0	1	8780	1509	53	3		3	LIFR	5	38510768	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85658	38510768	142404492	2952	8060										
LIFR	3977	hgsc.bcm.edu	37	chr5	38523529	38523529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcaaacttactaattttaCgagctccatactctctttac	3	11	2	0	rs140538535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38523529C>T	ENST00000263409.4	-	5	715	c.553G>A	c.(553-555)Gta>Ata	p.V185I	LIFR_ENST00000453190.2_Missense_Mutation_p.V185I|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	185					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACTAATTTTACGAGCTCCATA	0.338			T	PLAG1	salivary adenoma								C|||	11	0.00219649	0.0076	0.0014	5008	,	,		16786	0.0		0.0	False		,,,				2504	0.0				p.V185I	Melanoma(13;4 730 6426 9861 34751)	Atlas-SNP	.		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	LIFR_ENST00000263409,NS,carcinoma,0,2	LIFR	348	2	0			c.G553A						PASS	.	C	ILE/VAL,ILE/VAL	11,4395	15.5+/-35.6	0,11,2192	79	86	84		553,553	1.8	0	5	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense	LIFR	NM_001127671.1,NM_002310.5	29,29	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging,possibly-damaging	185/1098,185/1098	38523529	11,12995	2203	4300	6503	SO:0001583	missense	3977	exon5			ATTTTACGAGCTC	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.553G>A	5.37:g.38523529C>T	ENSP00000263409:p.Val185Ile	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	267	115	0.430712	NM_002310	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.760	0.923346	0.18056	0.002497	0.0	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.65916	-0.18;-0.18	5.53	1.82	0.25136	Immunoglobulin-like fold (1);	0.720295	0.13949	N	0.351669	T	0.49355	0.1552	L	0.49513	1.565	0.09310	N	1	B	0.25809	0.135	B	0.10450	0.005	T	0.29088	-1.0023	10	0.23302	T	0.38	-9.8342	7.3065	0.26451	0.0:0.6505:0.0:0.3495	.	185	P42702	LIFR_HUMAN	I	185	ENSP00000263409:V185I;ENSP00000398368:V185I	ENSP00000263409:V185I	V	-	1	0	LIFR	38559286	0.000000	0.05858	0.023000	0.16930	0.988000	0.76386	-0.741000	0.04855	0.044000	0.15775	0.655000	0.94253	GTA	C|0.999;T|0.001	0.001	strong		0.338	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		T	38523529	C	T	38523529	3	4	22	1	0	0	0	0	1	0	0	0	8780	536	19	1	2804	1	LIFR	5	38523529	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12761	38523529	142391731	2953	8061										
RICTOR	253260	hgsc.bcm.edu	37	chr5	38950761	38950761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctctgtatcttcattgatAtcaaggaaaaatgtgctagt	9	6	4	1	rs150422546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38950761A>G	ENST00000357387.3	-	31	3219	c.3189T>C	c.(3187-3189)gaT>gaC	p.D1063D	RICTOR_ENST00000296782.5_Silent_p.D1063D	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTCATTGATATCAAGGAAAA	0.348													A|||	6	0.00119808	0.0045	0.0	5008	,	,		17156	0.0		0.0	False		,,,				2504	0.0				p.D1063D		Atlas-SNP	.											.	RICTOR	182	.	0			c.T3189C						PASS	.	A		9,4395	15.5+/-35.6	0,9,2193	98	106	103		3189	0	1	5	dbSNP_134	103	0,8592		0,0,4296	yes	coding-synonymous	RICTOR	NM_152756.3		0,9,6489	GG,GA,AA		0.0,0.2044,0.0693		1063/1709	38950761	9,12987	2202	4296	6498	SO:0001819	synonymous_variant	253260	exon31			ATTGATATCAAGG		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3189T>C	5.37:g.38950761A>G		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	210	111	0.528571	NM_152756		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																			A|0.999;G|0.001	0.001	strong		0.348	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		G	38950761	A	G	38950761	2	3	22	1	0	0	0	0	0	0	0	1	13358	446	16	2		2	RICTOR	5	38950761	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	427232	38950761	141964499	2954	8062										
RICTOR	253260	hgsc.bcm.edu	37	chr5	38960006	38960006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattttgaagacttctttcGggtttcattccagatgaagc	8	7	2	4	rs73751814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:38960006G>A	ENST00000357387.3	-	21	1956	c.1926C>T	c.(1924-1926)ccC>ccT	p.P642P	RICTOR_ENST00000296782.5_Silent_p.P642P|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GACTTCTTTCGGGTTTCATTC	0.363													A|||	36	0.0071885	0.025	0.0043	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.0				p.P642P		Atlas-SNP	.											.	RICTOR	182	.	0			c.C1926T						PASS	.	A		92,4314	817.2+/-416.3	1,90,2112	133	135	134		1926	-3.2	1	5	dbSNP_130	134	0,8600		0,0,4300	no	coding-synonymous	RICTOR	NM_152756.3		1,90,6412	AA,AG,GG		0.0,2.0881,0.7074		642/1709	38960006	92,12914	2203	4300	6503	SO:0001819	synonymous_variant	253260	exon21			TCTTTCGGGTTTC		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1926C>T	5.37:g.38960006G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	158	82	0.518987	NM_152756		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																			G|0.993;A|0.007	0.007	strong		0.363	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		A	38960006	G	A	38960006	2	1	22	1	0	0	0	0	0	0	0	1	13358	1103	39	1		1	RICTOR	5	38960006	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9245	38960006	141955254	2955	8063										
FYB	2533	hgsc.bcm.edu	37	chr5	39202911	39202911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacttaggtacattgctgGgtcctgcaggagggctggca	14	9	0	0	rs1642515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:39202911G>A	ENST00000351578.6	-	2	342	c.152C>T	c.(151-153)cCc>cTc	p.P51L	FYB_ENST00000515010.1_Missense_Mutation_p.P51L|FYB_ENST00000505428.1_Missense_Mutation_p.P51L|FYB_ENST00000540520.1_Missense_Mutation_p.P61L|FYB_ENST00000512982.1_Missense_Mutation_p.P51L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	51			P -> L (in dbSNP:rs1642515).		immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TACATTGCTGGGTCCTGCAGG	0.502													G|||	182	0.0363419	0.1331	0.0086	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.0				p.P61L		Atlas-SNP	.											.	FYB	354	.	0			c.C182T						PASS	.	G	LEU/PRO,LEU/PRO	449,3361		21,407,1477	60	58	58		152,152	3.4	0.5	5	dbSNP_89	58	5,8235		0,5,4115	yes	missense,missense	FYB	NM_001465.4,NM_199335.3	98,98	21,412,5592	AA,AG,GG		0.0607,11.7848,3.7676	benign,benign	51/830,51/784	39202911	454,11596	1905	4120	6025	SO:0001583	missense	2533	exon2			TTGCTGGGTCCTG	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.152C>T	5.37:g.39202911G>A	ENSP00000316460:p.Pro51Leu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	120	57	0.475	NM_001243093	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	64	0.029304029304029304	60	0.12195121951219512	4	0.011049723756906077	0	0.0	0	0.0	G	12.15	1.852358	0.32699	0.117848	6.07E-4	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188;ENST00000512138	T;T;T;T;T;T;T	0.73897	0.51;0.51;0.57;0.57;0.56;-0.79;-0.14	6.17	3.39	0.38822	.	0.680112	0.15332	N	0.267922	T	0.01695	0.0054	L	0.43701	1.375	0.20403	P	0.9999089434	B;B	0.20887	0.049;0.007	B;B	0.15052	0.012;0.006	T	0.30504	-0.9976	9	0.56958	D	0.05	-0.0459	5.9531	0.19259	0.2021:0.0:0.6538:0.1441	rs1642515;rs1642515	61;51	B4DLN2;O15117	.;FYB_HUMAN	L	51;51;51;51;61;51;51;51	ENSP00000316460:P51L;ENSP00000426346:P51L;ENSP00000425845:P51L;ENSP00000427114:P51L;ENSP00000442840:P61L;ENSP00000426597:P51L;ENSP00000424919:P51L	ENSP00000316460:P51L	P	-	2	0	FYB	39238668	0.961000	0.32948	0.518000	0.27811	0.688000	0.40055	1.158000	0.31737	0.444000	0.26612	0.655000	0.94253	CCC	G|0.959;A|0.041	0.041	strong		0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		A	39202911	G	A	39202911	3	1	22	1	0	0	0	0	1	0	0	0	6124	1232	43	2	2409	2	FYB	5	39202911	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	242905	39202911	141712349	2956	8064										
C9	735	hgsc.bcm.edu	37	chr5	39364554	39364554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgcaactgcaaagctccGgcaggctgacatgctgctct	11	12	1	1	rs700233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:39364554G>A	ENST00000263408.4	-	1	108	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	5			R -> W (in dbSNP:rs700233).		complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCAAAGCTCCGGCAGGCTGAC	0.517													G|||	1433	0.286142	0.2413	0.3718	5008	,	,		18252	0.0714		0.4235	False		,,,				2504	0.3661				p.R5W		Atlas-SNP	.											.	C9	116	.	0			c.C13T						PASS	.	G	TRP/ARG	1121,3285	402.6+/-332.4	158,805,1240	82	71	75		13	-8.7	0	5	dbSNP_86	75	3563,5037	515.9+/-378.7	730,2103,1467	yes	missense	C9	NM_001737.3	101	888,2908,2707	AA,AG,GG		41.4302,25.4426,36.0141	benign	5/560	39364554	4684,8322	2203	4300	6503	SO:0001583	missense	735	exon1			AGCTCCGGCAGGC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.13C>T	5.37:g.39364554G>A	ENSP00000263408:p.Arg5Trp	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	26	10	0.384615	NM_001737		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	644	0.2948717948717949	129	0.2621951219512195	143	0.39502762430939226	46	0.08041958041958042	326	0.43007915567282323	G	10.63	1.405274	0.25378	0.254426	0.414302	ENSG00000113600	ENST00000263408	T	0.34072	1.38	4.45	-8.66	0.00866	.	3.427000	0.00687	N	0.000708	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	9	0.37606	T	0.19	5.1937	0.3149	0.00294	0.2623:0.2207:0.2768:0.2401	rs700233;rs1631129;rs3854893;rs17385752;rs58690123;rs700233	5	P02748	CO9_HUMAN	W	5	ENSP00000263408:R5W	ENSP00000263408:R5W	R	-	1	2	C9	39400311	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-2.551000	0.00928	-1.634000	0.01537	-1.233000	0.01565	CGG	G|0.675;A|0.325	0.325	strong		0.517	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			A	39364554	G	A	39364554	3	1	22	1	0	0	0	0	1	0	0	0	2443	1115	39	1	1710	1	C9	5	39364554	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161643	39364554	141550706	2957	8065										
DAB2	1601	hgsc.bcm.edu	37	chr5	39377132	39377132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattccccaaagggcttgttGttgaccaagcattgggtgcc	12	10	0	1	rs700241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:39377132G>A	ENST00000320816.6	-	12	2224	c.1757C>T	c.(1756-1758)aCa>aTa	p.T586I	DAB2_ENST00000545653.1_Missense_Mutation_p.T565I|DAB2_ENST00000509337.1_Missense_Mutation_p.T565I|DAB2_ENST00000339788.6_Missense_Mutation_p.T368I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	586			T -> I (in dbSNP:rs700241).		activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGGCTTGTTGTTGACCAAGC	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	264	0.0527157	0.1286	0.0259	5008	,	,		18845	0.0427		0.0129	False		,,,				2504	0.0204				p.T586I		Atlas-SNP	.											.	DAB2	124	.	0			c.C1757T						PASS	.	G	ILE/THR	534,3872	243.1+/-252.9	30,474,1699	80	92	88		1757	4.7	0.2	5	dbSNP_86	88	108,8492	58.3+/-119.8	0,108,4192	yes	missense	DAB2	NM_001343.3	89	30,582,5891	AA,AG,GG		1.2558,12.1198,4.9362	benign	586/771	39377132	642,12364	2203	4300	6503	SO:0001583	missense	1601	exon12			CTTGTTGTTGACC	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1757C>T	5.37:g.39377132G>A	ENSP00000313391:p.Thr586Ile	Somatic	162	0	0	885	WXS	Illumina HiSeq	Phase_I	154	65	0.422078	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	96	0.04395604395604396	63	0.12804878048780488	8	0.022099447513812154	18	0.03146853146853147	7	0.009234828496042216	G	8.484	0.860372	0.17178	0.121198	0.012558	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.37058	1.25;1.24;1.22;1.22	5.57	4.69	0.59074	.	0.803378	0.11503	N	0.557461	T	0.00210	0.0006	N	0.08118	0	0.80722	P	0.0	B;B	0.20164	0.042;0.041	B;B	0.20384	0.013;0.029	T	0.04140	-1.0974	9	0.34782	T	0.22	-2.617	8.2215	0.31543	0.0801:0.0:0.6714:0.2485	rs700241;rs1661851;rs3733800;rs52816384;rs61460036;rs700241	586;565	P98082;P98082-3	DAB2_HUMAN;.	I	586;368;565;565	ENSP00000313391:T586I;ENSP00000345508:T368I;ENSP00000439919:T565I;ENSP00000426245:T565I	ENSP00000313391:T586I	T	-	2	0	DAB2	39412889	0.729000	0.28090	0.180000	0.23079	0.366000	0.29705	2.656000	0.46716	2.617000	0.88574	0.655000	0.94253	ACA	G|0.945;A|0.055	0.055	strong		0.552	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		A	39377132	G	A	39377132	3	1	22	1	0	0	0	0	1	0	0	0	4218	1377	48	2	567	2	DAB2	5	39377132	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12578	39377132	141538128	2958	8066										
RPL37	6167	hgsc.bcm.edu	37	chr5	40834595	40834595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcttgcgcttggcaggGtagccacatttgccacaggt	11	11	1	0	rs6495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:40834595G>A	ENST00000274242.5	-	2	266	c.117C>T	c.(115-117)taC>taT	p.Y39Y	RPL37_ENST00000508493.1_Silent_p.Y39Y|RPL37_ENST00000509877.1_Silent_p.Y39Y|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				GCTTGGCAGGGTAGCCACATT	0.483													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0				p.Y39Y	Colon(188;1411 2035 4978 19588 31462)	Atlas-SNP	.											.	RPL37	7	.	0			c.C117T						PASS	.	G		41,4365	44.6+/-78.6	0,41,2162	58	53	55		117	2.9	1	5	dbSNP_52	55	0,8600		0,0,4300	no	coding-synonymous	RPL37	NM_000997.4		0,41,6462	AA,AG,GG		0.0,0.9305,0.3152		39/98	40834595	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	6167	exon2			GGCAGGGTAGCCA	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"L ribosomal proteins"	10347	protein-coding gene	gene with protein product	"60S ribosomal protein L37a"	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.117C>T	5.37:g.40834595G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	100	44	0.44	NM_000997	B2R4H2|P02403|Q6IBB4|Q99883	Silent	SNP	ENST00000274242.5	37	CCDS3934.1																																																																																			G|0.996;A|0.004	0.004	strong		0.483	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		A	40834595	G	A	40834595	2	1	22	1	0	0	0	0	0	0	0	1	13589	1256	44	2		2	RPL37	5	40834595	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1457463	40834595	140080665	2959	8067										
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	40998760	40998760	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactccacatattggctggtCaaattgagaacaacggcatc	8	10	1	1	rs61745464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:40998760C>T	ENST00000399564.4	-	41	5055	c.4605G>A	c.(4603-4605)ttG>ttA	p.L1535L	MROH2B_ENST00000506092.2_Silent_p.L1090L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1535																	ATTGGCTGGTCAAATTGAGAA	0.398													C|||	334	0.0666933	0.1831	0.0605	5008	,	,		19350	0.001		0.0348	False		,,,				2504	0.0143				p.L1535L		Atlas-SNP	.											.	.	.	.	0			c.G4605A						PASS	.	C		632,3106		60,512,1297	82	84	83		4605	5	1	5	dbSNP_129	83	322,7874		8,306,3784	no	coding-synonymous	HEATR7B2	NM_173489.4		68,818,5081	TT,TC,CC		3.9287,16.9074,7.994		1535/1586	40998760	954,10980	1869	4098	5967	SO:0001819	synonymous_variant	133558	exon41			GCTGGTCAAATTG		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4605G>A	5.37:g.40998760C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	117	56	0.478632	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																			C|0.936;T|0.064	0.064	strong		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	40998760	C	T	40998760	2	4	22	1	0	0	0	0	0	0	0	1	7035	825	29	2		2	HEATR7B2	5	40998760	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	164165	40998760	139916500	2960	8068										
PLCXD3	345557	hgsc.bcm.edu	37	chr5	41382536	41382536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgcatgagctttttggcCacagttccaaacacagagac	8	12	0	2	rs16871312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:41382536C>T	ENST00000377801.3	-	2	278	c.204G>A	c.(202-204)gtG>gtA	p.V68V	PLCXD3_ENST00000328457.3_Silent_p.V68V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	68	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCTTTTTGGCCACAGTTCCAA	0.448													C|||	356	0.0710863	0.2632	0.0115	5008	,	,		17078	0.0		0.0	False		,,,				2504	0.0				p.V68V		Atlas-SNP	.											.	PLCXD3	86	.	0			c.G204A						PASS	.	C		1023,3383	371.2+/-319.9	129,765,1309	59	65	63		204	-0.2	1	5	dbSNP_123	63	8,8592	4.3+/-15.6	0,8,4292	no	coding-synonymous	PLCXD3	NM_001005473.2		129,773,5601	TT,TC,CC		0.093,23.2183,7.9271		68/322	41382536	1031,11975	2203	4300	6503	SO:0001819	synonymous_variant	345557	exon2			TTTGGCCACAGTT		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.204G>A	5.37:g.41382536C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	36	36	1	NM_001005473	A6NL04	Silent	SNP	ENST00000377801.3	37	CCDS34150.1																																																																																			C|0.907;T|0.093	0.093	strong		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41382536	C	T	41382536	2	4	22	1	0	0	0	0	0	0	0	1	12043	581	21	2		2	PLCXD3	5	41382536	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	383776	41382536	139532724	2961	8069										
MGC42105	167359	hgsc.bcm.edu	37	chr5	43245922	43245922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggcctggtgaacccccaCtatgcccggtgggatcggcg	16	13	0	1	rs13176855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:43245922C>T	ENST00000512796.1	+	2	1544	c.45C>T	c.(43-45)caC>caT	p.H15H	NIM1_ENST00000326035.2_Silent_p.H15H			Q8IY84	NIM1_HUMAN		15					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TGAACCCCCACTATGCCCGGT	0.617													C|||	1439	0.28734	0.2905	0.2622	5008	,	,		20469	0.1409		0.4344	False		,,,				2504	0.3006				p.H15H		Atlas-SNP	.											.	.	.	.	0			c.C45T						PASS	.	C		1291,3115	437.0+/-344.8	196,899,1108	128	121	123		45	3.8	0.8	5	dbSNP_121	123	3631,4969	523.2+/-380.3	774,2083,1443	no	coding-synonymous	NIM1	NM_153361.2		970,2982,2551	TT,TC,CC		42.2209,29.301,37.8441		15/437	43245922	4922,8084	2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			CCCCCACTATGCC																												ENST00000512796.1:c.45C>T	5.37:g.43245922C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	154	75	0.487013	NM_153361	B3KVM1	Silent	SNP	ENST00000512796.1	37	CCDS3943.1																																																																																			C|0.645;T|0.355	0.355	strong		0.617	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			T	43245922	C	T	43245922	2	4	22	1	0	0	0	0	0	0	0	1	9552	564	20	2		2	MGC42105	5	43245922	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1863386	43245922	137669338	2962	8070										
MGC42105	167359	hgsc.bcm.edu	37	chr5	43277283	43277283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatccgcctttacgaagtGgtggagaccctatccaagct	9	12	1	1	rs61734291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:43277283G>A	ENST00000512796.1	+	3	1916	c.417G>A	c.(415-417)gtG>gtA	p.V139V	NIM1_ENST00000326035.2_Silent_p.V139V			Q8IY84	NIM1_HUMAN		139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TTTACGAAGTGGTGGAGACCC	0.507													A|||	201	0.0401358	0.1437	0.0159	5008	,	,		20135	0.0		0.0	False		,,,				2504	0.0				p.V139V		Atlas-SNP	.											.	.	.	.	0			c.G417A						PASS	.	A		468,3938	783.5+/-414.6	26,416,1761	103	98	100		417	-8.7	0.5	5	dbSNP_129	100	4,8596	819.2+/-406.8	0,4,4296	no	coding-synonymous	NIM1	NM_153361.2		26,420,6057	AA,AG,GG		0.0465,10.6219,3.6291		139/437	43277283	472,12534	2203	4300	6503	SO:0001819	synonymous_variant	0	exon3			CGAAGTGGTGGAG																												ENST00000512796.1:c.417G>A	5.37:g.43277283G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	112	58	0.517857	NM_153361	B3KVM1	Silent	SNP	ENST00000512796.1	37	CCDS3943.1																																																																																			G|0.965;A|0.035	0.035	strong		0.507	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			A	43277283	G	A	43277283	2	1	22	1	0	0	0	0	0	0	0	1	9552	1335	47	2		2	MGC42105	5	43277283	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31361	43277283	137637977	2963	8071										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52351377	52351377	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgccacagaaaatatgcTtattcagcagcttctggtgg	9	9	3	1	rs1139484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52351377T>C	ENST00000296585.5	+	8	932	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	263	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GAAAATATGCTTATTCAGCAG	0.358													T|||	489	0.0976438	0.1717	0.0605	5008	,	,		18641	0.0317		0.0895	False		,,,				2504	0.1002				p.A263A		Atlas-SNP	.											.	ITGA2	211	.	0			c.T789C						PASS	.	T		701,3705	290.4+/-280.9	51,599,1553	96	95	96		789	1.4	1	5	dbSNP_86	96	822,7778	189.0+/-235.8	38,746,3516	no	coding-synonymous	ITGA2	NM_002203.3		89,1345,5069	CC,CT,TT		9.5581,15.9101,11.71		263/1182	52351377	1523,11483	2203	4300	6503	SO:0001819	synonymous_variant	3673	exon8			ATATGCTTATTCA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.789T>C	5.37:g.52351377T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			C|0.107;G|0.000;T|0.893	0.107	strong		0.358	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		C	52351377	T	C	52351377	2	2	22	1	0	0	0	0	0	0	0	1	7875	1596	56	3		3	ITGA2	5	52351377	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9074094	52351377	128563883	2964	8072										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52351876	52351876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaataaaagaaataaaagcAatcgctagtattccaacaga	5	6	0	2	rs3212523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52351876A>G	ENST00000296585.5	+	9	1136	c.993A>G	c.(991-993)gcA>gcG	p.A331A		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAATAAAAGCAATCGCTAGTA	0.353													A|||	490	0.0978435	0.1717	0.0605	5008	,	,		14554	0.0327		0.0895	False		,,,				2504	0.1002				p.A331A		Atlas-SNP	.											.	ITGA2	211	.	0			c.A993G						PASS	.	A		680,3722	264.4+/-266.0	50,580,1571	47	53	51		993	2	1	5	dbSNP_106	51	814,7780	185.7+/-233.4	37,740,3520	no	coding-synonymous	ITGA2	NM_002203.3		87,1320,5091	GG,GA,AA		9.4717,15.4475,11.4958		331/1182	52351876	1494,11502	2201	4297	6498	SO:0001819	synonymous_variant	3673	exon9			AAAAGCAATCGCT		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.993A>G	5.37:g.52351876A>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	110	55	0.5	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			A|0.897;G|0.103	0.103	strong		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		G	52351876	A	G	52351876	2	3	22	1	0	0	0	0	0	0	0	1	7875	117	5	2		2	ITGA2	5	52351876	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	499	52351876	128563384	2965	8073										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52368472	52368472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaagactgtggtgaggaCggactttgcatttctgatct	11	8	2	3	rs3212583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52368472C>T	ENST00000296585.5	+	19	2519	c.2376C>T	c.(2374-2376)gaC>gaT	p.D792D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	792					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTGGTGAGGACGGACTTTGCA	0.358													T|||	557	0.111222	0.23	0.0663	5008	,	,		15873	0.0317		0.0885	False		,,,				2504	0.0879				p.D792D		Atlas-SNP	.											.	ITGA2	211	.	0			c.C2376T						PASS	.	T		896,3508	739.1+/-411.0	84,728,1390	85	76	79		2376	3.3	0.9	5	dbSNP_106	79	829,7771	779.2+/-407.7	40,749,3511	no	coding-synonymous	ITGA2	NM_002203.3		124,1477,4901	TT,TC,CC		9.6395,20.3451,13.2651		792/1182	52368472	1725,11279	2202	4300	6502	SO:0001819	synonymous_variant	3673	exon19			TGAGGACGGACTT		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2376C>T	5.37:g.52368472C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	73	44	0.60274	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			C|0.875;T|0.125	0.125	strong		0.358	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52368472	C	T	52368472	2	4	22	1	0	0	0	0	0	0	0	1	7875	535	19	1		1	ITGA2	5	52368472	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16596	52368472	128546788	2966	8074										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52369002	52369002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttaacattttcagtaacGctgaaaaataaaagggaaag	9	4	1	1	rs3212327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52369002G>A	ENST00000296585.5	+	20	2627	c.2484G>A	c.(2482-2484)acG>acA	p.T828T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	828					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCAGTAACGCTGAAAAATA	0.353													G|||	522	0.104233	0.2035	0.0663	5008	,	,		19385	0.0317		0.0885	False		,,,				2504	0.0879				p.T828T		Atlas-SNP	.											.	ITGA2	211	.	0			c.G2484A						PASS	.	G		802,3604	321.5+/-297.2	65,672,1466	121	116	117		2484	-2.5	0.5	5	dbSNP_106	117	828,7772	191.8+/-238.0	40,748,3512	no	coding-synonymous	ITGA2	NM_002203.3		105,1420,4978	AA,AG,GG		9.6279,18.2025,12.5327		828/1182	52369002	1630,11376	2203	4300	6503	SO:0001819	synonymous_variant	3673	exon20			AGTAACGCTGAAA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2484G>A	5.37:g.52369002G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	134	60	0.447761	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			G|0.880;A|0.120	0.120	strong		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		A	52369002	G	A	52369002	2	1	22	1	0	0	0	0	0	0	0	1	7875	1074	38	1		1	ITGA2	5	52369002	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	530	52369002	128546258	2967	8075										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52369086	52369086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttttgcatcattctccctGccggtatgtgatgagaccct	8	11	2	2	rs3213805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52369086G>A	ENST00000296585.5	+	20	2711	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	856					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CATTCTCCCTGCCGGTATGTG	0.373													G|||	475	0.0948482	0.2027	0.0663	5008	,	,		20554	0.0188		0.0885	False		,,,				2504	0.0542				p.L856L		Atlas-SNP	.											ITGA2_ENST00000296585,NS,carcinoma,0,1	ITGA2	211	1	0			c.G2568A						PASS	.	G		795,3611	319.9+/-296.3	63,669,1471	192	191	191		2568	3	1	5	dbSNP_106	191	827,7773	192.0+/-238.1	40,747,3513	no	coding-synonymous	ITGA2	NM_002203.3		103,1416,4984	AA,AG,GG		9.6163,18.0436,12.4712		856/1182	52369086	1622,11384	2203	4300	6503	SO:0001819	synonymous_variant	3673	exon20			CTCCCTGCCGGTA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2568G>A	5.37:g.52369086G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	202	94	0.465347	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			G|0.883;A|0.117	0.117	strong		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		A	52369086	G	A	52369086	2	1	22	1	0	0	0	0	0	0	0	1	7875	1306	46	2		2	ITGA2	5	52369086	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84	52369086	128546174	2968	8076										
NDUFS4	4724	hgsc.bcm.edu	37	chr5	52856572	52856572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtagctgccctttccgTttccagggttccgaccaggt	12	13	0	0	rs145347909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:52856572T>A	ENST00000296684.5	+	1	108	c.80T>A	c.(79-81)gTt>gAt	p.V27D		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	27					brain development (GO:0007420)|cAMP-mediated signaling (GO:0019933)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|positive regulation of fibroblast proliferation (GO:0048146)|reactive oxygen species metabolic process (GO:0072593)|regulation of protein phosphorylation (GO:0001932)|respiratory electron transport chain (GO:0022904)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)				GCCCTTTCCGTTTCCAGGGTT	0.547													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15687	0.0		0.0	False		,,,				2504	0.0				p.V27D		Atlas-SNP	.											.	NDUFS4	17	.	0			c.T80A						PASS	.	T	ASP/VAL	9,4397	15.5+/-35.6	0,9,2194	108	97	101		80	-0.2	0.1	5	dbSNP_134	101	0,8600		0,0,4300	yes	missense	NDUFS4	NM_002495.2	152	0,9,6494	AA,AT,TT		0.0,0.2043,0.0692	possibly-damaging	27/176	52856572	9,12997	2203	4300	6503	SO:0001583	missense	4724	exon1			TTTCCGTTTCCAG	AF020351	CCDS3960.1	5q11.1	2011-07-04	2002-08-29		ENSG00000164258	ENSG00000164258		"Mitochondrial respiratory chain complex / Complex I"	7711	protein-coding gene	gene with protein product	"complex I 18kDa subunit"	602694	"NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)"			9463323, 9763677	Standard	NM_002495		Approved	AQDQ, CI-18	uc003jpe.2	O43181	OTTHUMG00000096987	ENST00000296684.5:c.80T>A	5.37:g.52856572T>A	ENSP00000296684:p.Val27Asp	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	80	39	0.4875	NM_002495	Q9BS69	Missense_Mutation	SNP	ENST00000296684.5	37	CCDS3960.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	12.86	2.065131	0.36470	0.002043	0.0	ENSG00000164258	ENST00000296684;ENST00000506765	T	0.69040	-0.37	4.72	-0.216	0.13153	.	1.026790	0.07670	N	0.935325	T	0.49236	0.1545	L	0.54323	1.7	0.19775	N	0.999952	B	0.29085	0.232	B	0.26517	0.07	T	0.38373	-0.9664	10	0.30854	T	0.27	-17.1517	7.242	0.26102	0.0:0.3826:0.0:0.6174	.	27	O43181	NDUS4_HUMAN	D	27;23	ENSP00000296684:V27D	ENSP00000296684:V27D	V	+	2	0	NDUFS4	52892329	0.912000	0.30974	0.063000	0.19743	0.310000	0.27922	0.131000	0.15870	-0.025000	0.13918	0.533000	0.62120	GTT	T|0.999;A|0.001	0.001	strong		0.547	NDUFS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214062.2	NM_002495		A	52856572	T	A	52856572	3	1	22	1	0	0	0	0	1	0	0	0	10294	1725	60	5	82	5	NDUFS4	5	52856572	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	487486	52856572	128058688	2969	8077										
HSPB3	8988	hgsc.bcm.edu	37	chr5	53751818	53751818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagacgccaccccgagaaGgcaaatcccactttcagatc	8	15	1	3	rs35258119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:53751818G>A	ENST00000302005.1	+	1	374	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	67			G -> S (in dbSNP:rs35258119).		cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ACCCCGAGAAGGCAAATCCCA	0.552													G|||	41	0.0081869	0.028	0.0058	5008	,	,		19929	0.0		0.0	False		,,,				2504	0.0				p.G67S		Atlas-SNP	.											.	HSPB3	17	.	0			c.G199A						PASS	.	G	SER/GLY	90,4316	75.7+/-113.9	0,90,2113	84	76	79		199	2.1	0	5	dbSNP_126	79	0,8600		0,0,4300	yes	missense	HSPB3	NM_006308.2	56	0,90,6413	AA,AG,GG		0.0,2.0427,0.692	benign	67/151	53751818	90,12916	2203	4300	6503	SO:0001583	missense	8988	exon1			CGAGAAGGCAAAT	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.199G>A	5.37:g.53751818G>A	ENSP00000303394:p.Gly67Ser	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	146	144	0.986301	NM_006308		Missense_Mutation	SNP	ENST00000302005.1	37	CCDS3961.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	9.517	1.107277	0.20714	0.020427	0.0	ENSG00000169271	ENST00000302005	D	0.91124	-2.79	5.89	2.12	0.27331	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.364101	0.27415	N	0.019475	T	0.69628	0.3132	N	0.16708	0.43	0.09310	N	1	B	0.19445	0.036	B	0.17722	0.019	T	0.65742	-0.6094	10	0.36615	T	0.2	-30.5173	10.6026	0.45375	0.2571:0.0:0.7429:0.0	rs35258119	67	Q12988	HSPB3_HUMAN	S	67	ENSP00000303394:G67S	ENSP00000303394:G67S	G	+	1	0	HSPB3	53787575	0.686000	0.27661	0.045000	0.18777	0.039000	0.13416	0.902000	0.28459	0.813000	0.34350	0.655000	0.94253	GGC	G|0.992;A|0.008	0.008	strong		0.552	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			A	53751818	G	A	53751818	3	1	22	1	0	0	0	0	1	0	0	0	7421	1000	35	2	201	2	HSPB3	5	53751818	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	895246	53751818	127163442	2970	8078										
SNX18	112574	hgsc.bcm.edu	37	chr5	53814736	53814736	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctacaagcacttcgactgGctgtacgcgcgcctggcgga	13	14	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:53814736G>C	ENST00000326277.3	+	1	1144	c.954G>C	c.(952-954)tgG>tgC	p.W318C	SNX18_ENST00000343017.6_Missense_Mutation_p.W318C|SNX18_ENST00000381410.4_Missense_Mutation_p.W318C	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	318	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACTTCGACTGGCTGTACGCGC	0.622																																					p.W318C		Atlas-SNP	.											.	SNX18	102	.	0			c.G954C						PASS	.						48	45	46					5																	53814736		2203	4300	6503	SO:0001583	missense	112574	exon1			CGACTGGCTGTAC	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.954G>C	5.37:g.53814736G>C	ENSP00000317332:p.Trp318Cys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	138	15	0.108696	NM_052870	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740451	0.49045	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.41400	1.0;1.0;1.0	4.8	3.94	0.45596	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77598	-0.2528	10	0.87932	D	0	-9.487	13.0976	0.59202	0.0771:0.0:0.9229:0.0	.	318;318	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	318	ENSP00000342276:W318C;ENSP00000370817:W318C;ENSP00000317332:W318C	ENSP00000317332:W318C	W	+	3	0	SNX18	53850493	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	9.638000	0.98445	1.250000	0.43966	-0.259000	0.10710	TGG	.	.	none		0.622	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			C	53814736	G	C	53814736	3	2	22	1	0	0	0	0	1	0	0	0	14889	1212	42	4	956	4	SNX18	5	53814736	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62918	53814736	127100524	2971	8079										
SNX18	112574	hgsc.bcm.edu	37	chr5	53815560	53815560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcttttccctagagtgtaAgttggattgctcgacaggca	12	8	1	1	rs13162502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:53815560A>C	ENST00000326277.3	+	1	1968	c.1778A>C	c.(1777-1779)aAg>aCg	p.K593T	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	593	BAR.		K -> T (in dbSNP:rs13162502). {ECO:0000269|PubMed:15489334}.		cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTAGAGTGTAAGTTGGATTGC	0.483													a|||	587	0.117212	0.0582	0.0908	5008	,	,		20372	0.0655		0.1928	False		,,,				2504	0.1912				p.K593T		Atlas-SNP	.											.	SNX18	102	.	0			c.A1778C						PASS	.	A	,,THR/LYS	339,4067	178.3+/-207.1	15,309,1879	72	73	73		,,1778	-6.1	0	5	dbSNP_121	73	1536,7064	288.1+/-298.6	150,1236,2914	yes	intron,intron,missense	SNX18	NM_001102575.1,NM_001145427.1,NM_052870.2	,,78	165,1545,4793	CC,CA,AA		17.8605,7.6941,14.4164	,,	,,593/629	53815560	1875,11131	2203	4300	6503	SO:0001583	missense	112574	exon1			AGTGTAAGTTGGA	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1778A>C	5.37:g.53815560A>C	ENSP00000317332:p.Lys593Thr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	115	42	0.365217	NM_052870	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	CCDS3962.1	250	0.11446886446886446	27	0.054878048780487805	41	0.1132596685082873	36	0.06293706293706294	146	0.19261213720316622	A	8.380	0.837333	0.16891	0.076941	0.178605	ENSG00000178996	ENST00000326277	T	0.12774	2.65	3.06	-6.12	0.02124	.	0.272352	0.33401	U	0.004955	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	8	.	.	.	0.9985	0.6291	0.00791	0.2273:0.1391:0.2332:0.4005	rs13162502;rs52817422;rs59638761;rs13162502	593	Q96RF0	SNX18_HUMAN	T	593	ENSP00000317332:K593T	.	K	+	2	0	SNX18	53851317	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.933000	0.01553	-2.532000	0.00491	-0.669000	0.03829	AAG	A|0.866;C|0.134	0.134	strong		0.483	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			C	53815560	A	C	53815560	3	2	22	1	0	0	0	0	1	0	0	0	14889	72	3	5	1780	5	SNX18	5	53815560	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	824	53815560	127099700	2972	8080										
CDC20B	166979	hgsc.bcm.edu	37	chr5	54410099	54410099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgcagcagaaaacacccGggtctggtctggactcaaag	12	11	3	1	rs444527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:54410099G>A	ENST00000381375.2	-	12	1652	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	CDC20B_ENST00000322374.6_Missense_Mutation_p.R461W|CDC20B_ENST00000296733.1_Missense_Mutation_p.R499W|CDC20B_ENST00000334206.5_3'UTR			Q86Y33	CD20B_HUMAN	cell division cycle 20B	503			R -> W (in dbSNP:rs444527). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.					p.R499W(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			gaaaacacccgggtctggtct	0.537													G|||	849	0.169529	0.0401	0.147	5008	,	,		17932	0.1865		0.2127	False		,,,				2504	0.2986				p.R503W		Atlas-SNP	.											CDC20B,bladder,carcinoma,+2,2	CDC20B	61	2	1	Substitution - Missense(1)	stomach(1)	c.C1507T						PASS	.	G	TRP/ARG,TRP/ARG,TRP/ARG	270,4136	154.4+/-187.8	13,244,1946	96	90	92		1381,1507,1495	1.7	0.3	5	dbSNP_80	92	1642,6958	303.4+/-306.4	161,1320,2819	yes	missense,missense,missense	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	101,101,101	174,1564,4765	AA,AG,GG		19.093,6.128,14.7009	probably-damaging,probably-damaging,probably-damaging	461/478,503/520,499/516	54410099	1912,11094	2203	4300	6503	SO:0001583	missense	166979	exon12			ACACCCGGGTCTG	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1507C>T	5.37:g.54410099G>A	ENSP00000370781:p.Arg503Trp	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	210	104	0.495238	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	339	0.15521978021978022	23	0.046747967479674794	59	0.16298342541436464	91	0.1590909090909091	166	0.21899736147757257	G	15.65	2.897041	0.52121	0.06128	0.19093	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.60548	0.18;0.18;0.18	3.73	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.521154	0.14995	N	0.286491	T	0.00039	0.0001	L	0.27975	0.815	0.58432	P	4.000000000004E-6	D;D;D	0.65815	0.993;0.995;0.986	P;P;P	0.58520	0.752;0.84;0.636	T	0.04961	-1.0915	9	0.72032	D	0.01	-18.0434	4.2399	0.10643	0.123:0.0:0.6533:0.2237	rs444527;rs17839390;rs59073991;rs444527	461;503;499	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	W	499;503;461	ENSP00000296733:R499W;ENSP00000370781:R503W;ENSP00000315720:R461W	ENSP00000296733:R499W	R	-	1	2	CDC20B	54445856	0.057000	0.20700	0.334000	0.25495	0.958000	0.62258	0.257000	0.18369	0.876000	0.35872	0.563000	0.77884	CGG	G|0.861;A|0.139	0.139	strong		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		A	54410099	G	A	54410099	3	1	22	1	0	0	0	0	1	0	0	0	3060	1115	39	1	56	1	CDC20B	5	54410099	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	594539	54410099	126505161	2973	8081										
CDC20B	166979	hgsc.bcm.edu	37	chr5	54420799	54420799	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttgtggcgaagtgttccAacatgatgctgggctacccg	13	10	0	1	rs382402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:54420799A>C	ENST00000381375.2	-	9	1192	c.1047T>G	c.(1045-1047)gtT>gtG	p.V349V	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Silent_p.V349V|CDC20B_ENST00000322374.6_Silent_p.V349V			Q86Y33	CD20B_HUMAN	cell division cycle 20B	349								p.V349V(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAAGTGTTCCAACATGATGCT	0.507													A|||	858	0.171326	0.0424	0.147	5008	,	,		17943	0.1915		0.2147	False		,,,				2504	0.2975				p.V349V		Atlas-SNP	.											CDC20B,NS,carcinoma,0,1	CDC20B	61	1	1	Substitution - coding silent(1)	stomach(1)	c.T1047G						PASS	.	A	,,	288,4118	160.7+/-193.0	15,258,1930	140	120	127		1047,1047,1047	-9.3	0	5	dbSNP_80	127	1641,6959	302.4+/-305.9	160,1321,2819	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	,,	175,1579,4749	CC,CA,AA		19.0814,6.5365,14.8316	,,	349/478,349/520,349/516	54420799	1929,11077	2203	4300	6503	SO:0001819	synonymous_variant	166979	exon9			TGTTCCAACATGA	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1047T>G	5.37:g.54420799A>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	29	0.432836	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	CCDS54852.1																																																																																			A|0.851;C|0.149	0.149	strong		0.507	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		C	54420799	A	C	54420799	2	2	22	1	0	0	0	0	0	0	0	1	3060	117	5	5		5	CDC20B	5	54420799	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10700	54420799	126494461	2974	8082										
IL31RA	133396	hgsc.bcm.edu	37	chr5	55155402	55155402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcactgtggatgctcccCtcactctgcaaattcagcct	9	14	3	0	rs1009639	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:55155402C>T	ENST00000447346.2	+	2	194	c.129C>T	c.(127-129)ccC>ccT	p.P43P	IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000396836.2_Silent_p.P43P|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000396834.1_Silent_p.P24P|IL31RA_ENST00000359040.5_Silent_p.P43P|IL31RA_ENST00000354961.4_Silent_p.P24P	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	11	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGATGCTCCCCTCACTCTGCA	0.468													T|||	3147	0.628395	0.6543	0.4942	5008	,	,		20198	0.4544		0.7276	False		,,,				2504	0.7658				p.P43P		Atlas-SNP	.											.	IL31RA	84	.	0			c.C129T						PASS	.	T	,,,,	2918,1488		949,1020,234	183	158	167		72,129,72,,129	-0.8	0.1	5	dbSNP_86	167	6272,2328		2289,1694,317	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-5,coding-synonymous	IL31RA	NM_001242636.1,NM_001242637.1,NM_001242638.1,NM_001242639.1,NM_139017.5	,,,,	3238,2714,551	TT,TC,CC		27.0698,33.7721,29.3403	,,,,	24/746,43/682,24/663,,43/765	55155402	9190,3816	2203	4300	6503	SO:0001819	synonymous_variant	133396	exon2			GCTCCCCTCACTC	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.129C>T	5.37:g.55155402C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	112	50	0.446429	NM_001242637	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	CCDS3970.2																																																																																			C|0.334;T|0.666	0.666	strong		0.468	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		T	55155402	C	T	55155402	2	4	22	1	0	0	0	0	0	0	0	1	7691	668	24	2		2	IL31RA	5	55155402	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	734603	55155402	125759858	2975	8083										
ANKRD55	79722	hgsc.bcm.edu	37	chr5	55412471	55412471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggagaggagtttgacacaCgccgtgtgaccgcagtacag	15	9	0	3	rs60779428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:55412471C>T	ENST00000341048.4	-	9	1087	c.936G>A	c.(934-936)gcG>gcA	p.A312A	ANKRD55_ENST00000504958.2_Silent_p.A269A|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Silent_p.A24A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	312										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTTTGACACACGCCGTGTGAC	0.468													C|||	417	0.0832668	0.233	0.0389	5008	,	,		15115	0.001		0.0497	False		,,,				2504	0.0317				p.A312A		Atlas-SNP	.											ANKRD55,NS,malignant_melanoma,-2,2	ANKRD55	70	2	0			c.G936A						PASS	.	C		958,3448	362.1+/-316.0	106,746,1351	101	106	104		936	-0.1	0.3	5	dbSNP_129	104	470,8130	138.7+/-195.5	10,450,3840	no	coding-synonymous	ANKRD55	NM_024669.2		116,1196,5191	TT,TC,CC		5.4651,21.7431,10.9795		312/615	55412471	1428,11578	2203	4300	6503	SO:0001819	synonymous_variant	79722	exon9			GACACACGCCGTG	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.936G>A	5.37:g.55412471C>T		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	275	135	0.490909	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	CCDS34161.1																																																																																			C|0.907;T|0.093	0.093	strong		0.468	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		T	55412471	C	T	55412471	2	4	22	1	0	0	0	0	0	0	0	1	681	523	19	1		1	ANKRD55	5	55412471	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	257069	55412471	125502789	2976	8084										
C5orf35	133383	hgsc.bcm.edu	37	chr5	56205559	56205559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatcgcactgaacctaagCcacaacccgaggtgagaggg	13	11	0	2	rs80198735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:56205559C>T	ENST00000285947.2	+	1	473	c.87C>T	c.(85-87)agC>agT	p.S29S	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Silent_p.S29S|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	29							methyltransferase activity (GO:0008168)										TGAACCTAAGCCACAACCCGA	0.687													C|||	53	0.0105831	0.0386	0.0029	5008	,	,		9227	0.0		0.0	False		,,,				2504	0.0				p.S29S		Atlas-SNP	.											.	.	.	.	0			c.C87T						PASS	.	C	,	152,4254	98.9+/-137.6	5,142,2056	49	32	38		87,87	2.4	0.5	5	dbSNP_131	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C5orf35	NM_001171990.1,NM_153706.3	,	5,143,6355	TT,TC,CC		0.0116,3.4498,1.1764	,	29/272,29/300	56205559	153,12853	2203	4300	6503	SO:0001819	synonymous_variant	133383	exon1			CCTAAGCCACAAC	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.87C>T	5.37:g.56205559C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	98	34	0.346939	NM_153706	F5H713	Silent	SNP	ENST00000285947.2	37	CCDS3972.1																																																																																			C|0.987;T|0.013	0.013	strong		0.687	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		T	56205559	C	T	56205559	2	4	22	1	0	0	0	0	0	0	0	1	2294	738	26	2		2	C5orf35	5	56205559	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	793088	56205559	124709701	2977	8085										
ACTBL2	345651	hgsc.bcm.edu	37	chr5	56778213	56778213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggggttcaggggtgcctCggtgaggaggatgggatgct	20	6	1	1	rs73757391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:56778213C>T	ENST00000423391.1	-	1	423	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	108						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGGGGTGCCTCGGTGAGGAGG	0.527													C|||	126	0.0251597	0.0946	0.0014	5008	,	,		23302	0.0		0.0	False		,,,				2504	0.0				p.E108K		Atlas-SNP	.											.	ACTBL2	65	.	0			c.G322A						PASS	.	C	LYS/GLU	340,4066	179.0+/-207.6	20,300,1883	105	89	95		322	4	0.9	5	dbSNP_130	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ACTBL2	NM_001017992.2	56	20,302,6181	TT,TC,CC		0.0233,7.7167,2.6296	possibly-damaging	108/377	56778213	342,12664	2203	4300	6503	SO:0001583	missense	345651	exon1			GTGCCTCGGTGAG		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.322G>A	5.37:g.56778213C>T	ENSP00000416706:p.Glu108Lys	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	187	99	0.529412	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	45	0.020604395604395604	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	0	0.0	C	13.74	2.327453	0.41197	0.077167	2.33E-4	ENSG00000169067	ENST00000423391	D	0.96940	-4.18	4.91	4.04	0.47022	Actin/actin-like conserved site (1);	0.000000	0.64402	D	0.000005	D	0.82774	0.5110	H	0.98295	4.195	0.48762	D	0.999703	D	0.89917	1.0	D	0.78314	0.991	T	0.76862	-0.2802	10	0.87932	D	0	.	11.3815	0.49761	0.0:0.9109:0.0:0.0891	.	108	Q562R1	ACTBL_HUMAN	K	108	ENSP00000416706:E108K	ENSP00000416706:E108K	E	-	1	0	ACTBL2	56813970	1.000000	0.71417	0.920000	0.36463	0.468000	0.32798	5.904000	0.69886	1.279000	0.44446	0.655000	0.94253	GAG	C|0.973;T|0.027	0.027	strong		0.527	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56778213	C	T	56778213	3	4	22	1	0	0	0	0	1	0	0	0	194	893	31	1	812	1	ACTBL2	5	56778213	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	572654	56778213	124137047	2978	8086										
PLK2	10769	hgsc.bcm.edu	37	chr5	57751443	57751443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtctgagagctggtacccAaagccatatttgttagagta	11	7	1	2	rs1042994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:57751443A>G	ENST00000274289.3	-	11	1848	c.1548T>C	c.(1546-1548)ttT>ttC	p.F516F	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	516	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCTGGTACCCAAAGCCATATT	0.443													G|||	607	0.121206	0.205	0.2061	5008	,	,		18616	0.0		0.1282	False		,,,				2504	0.0654				p.F516F		Atlas-SNP	.											.	PLK2	71	.	0			c.T1548C						PASS	.	G		836,3570	747.2+/-411.8	103,630,1470	85	80	82		1548	-1.1	1	5	dbSNP_86	82	957,7643	775.2+/-407.7	55,847,3398	no	coding-synonymous	PLK2	NM_006622.2		158,1477,4868	GG,GA,AA		11.1279,18.9741,13.7859		516/686	57751443	1793,11213	2203	4300	6503	SO:0001819	synonymous_variant	10769	exon11			GTACCCAAAGCCA		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1548T>C	5.37:g.57751443A>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	204	93	0.455882	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			A|0.873;G|0.127	0.127	strong		0.443	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		G	57751443	A	G	57751443	2	3	22	1	0	0	0	0	0	0	0	1	12096	127	5	2		2	PLK2	5	57751443	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	973230	57751443	123163817	2979	8087										
PLK2	10769	hgsc.bcm.edu	37	chr5	57753116	57753116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggagccagcaatgaggaCggcattgtataccttgcttc	12	10	0	1	rs17710502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:57753116C>T	ENST00000274289.3	-	7	1200	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCAATGAGGACGGCATTGTAT	0.433													C|||	607	0.121206	0.202	0.2017	5008	,	,		18580	0.001		0.1292	False		,,,				2504	0.0706				p.P300P		Atlas-SNP	.											.	PLK2	71	.	0			c.G900A						PASS	.	C		814,3592	323.2+/-298.0	90,634,1479	86	82	83		900	-4.1	1	5	dbSNP_123	83	960,7640	209.4+/-250.6	55,850,3395	no	coding-synonymous	PLK2	NM_006622.2		145,1484,4874	TT,TC,CC		11.1628,18.4748,13.6399		300/686	57753116	1774,11232	2203	4300	6503	SO:0001819	synonymous_variant	10769	exon7			TGAGGACGGCATT		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.900G>A	5.37:g.57753116C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			C|0.868;T|0.132	0.132	strong		0.433	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		T	57753116	C	T	57753116	2	4	22	1	0	0	0	0	0	0	0	1	12096	523	19	1		1	PLK2	5	57753116	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1673	57753116	123162144	2980	8088										
PLK2	10769	hgsc.bcm.edu	37	chr5	57753149	57753149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcttcccttatgcacctAtaagtttctttgagatttgt	6	9	1	1	rs17767072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:57753149A>G	ENST00000274289.3	-	7	1167	c.867T>C	c.(865-867)taT>taC	p.Y289Y	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TTATGCACCTATAAGTTTCTT	0.423													A|||	590	0.117812	0.1967	0.2017	5008	,	,		18271	0.0		0.1282	False		,,,				2504	0.0624				p.Y289Y		Atlas-SNP	.											.	PLK2	71	.	0			c.T867C						PASS	.	A		789,3617	315.8+/-294.3	89,611,1503	64	65	65		867	0.6	1	5	dbSNP_123	65	957,7643	209.0+/-250.3	56,845,3399	no	coding-synonymous	PLK2	NM_006622.2		145,1456,4902	GG,GA,AA		11.1279,17.9074,13.4246		289/686	57753149	1746,11260	2203	4300	6503	SO:0001819	synonymous_variant	10769	exon7			GCACCTATAAGTT		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.867T>C	5.37:g.57753149A>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	71	41	0.577465	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			A|0.871;G|0.129	0.129	strong		0.423	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		G	57753149	A	G	57753149	2	3	22	1	0	0	0	0	0	0	0	1	12096	456	16	2		2	PLK2	5	57753149	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	57753149	123162111	2981	8089										
NDUFAF2	91942	hgsc.bcm.edu	37	chr5	60448734	60448734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcactggtaaaaccttTcagccaggatcctggatgcc	10	12	1	0	rs77878573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:60448734T>C	ENST00000296597.5	+	4	589	c.462T>C	c.(460-462)ttT>ttC	p.F154F	NDUFAF2_ENST00000511107.1_3'UTR|NDUFAF2_ENST00000512623.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	154					negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				GTAAAACCTTTCAGCCAGGAT	0.443													T|||	89	0.0177716	0.0658	0.0029	5008	,	,		13669	0.0		0.0	False		,,,				2504	0.0				p.F154F		Atlas-SNP	.											.	NDUFAF2	10	.	0			c.T462C						PASS	.	T		242,4162	130.2+/-166.9	6,230,1966	33	28	30		462	-4.8	1	5	dbSNP_131	30	4,8592	3.0+/-9.4	0,4,4294	no	coding-synonymous	NDUFAF2	NM_174889.4		6,234,6260	CC,CT,TT		0.0465,5.495,1.8923		154/170	60448734	246,12754	2202	4298	6500	SO:0001819	synonymous_variant	91942	exon4			AACCTTTCAGCCA	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"Mitochondrial respiratory chain complex assembly factors"	28086	protein-coding gene	gene with protein product	"Myc-induced mitochondrial protein"	609653	"NDUFA12-like", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.462T>C	5.37:g.60448734T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	143	71	0.496504	NM_174889	A8K5I1	Silent	SNP	ENST00000296597.5	37	CCDS3979.1																																																																																			T|0.981;C|0.019	0.019	strong		0.443	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		C	60448734	T	C	60448734	2	2	22	1	0	0	0	0	0	0	0	1	10275	1780	62	2		2	NDUFAF2	5	60448734	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2695585	60448734	120466526	2982	8090										
SFRS12IP1	285672	hgsc.bcm.edu	37	chr5	64020241	64020241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaattcagaactattaggTgtagaagaatgcttttcctt	9	5	1	4	rs16879016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:64020241T>C	ENST00000513458.4	-	5	605	c.438A>G	c.(436-438)acA>acG	p.T146T		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	146					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						AACTATTAGGTGTAGAAGAAT	0.294													C|||	724	0.144569	0.4924	0.0519	5008	,	,		18873	0.0238		0.0109	False		,,,				2504	0.002				p.T146T		Atlas-SNP	.											.	SREK1IP1	28	.	0			c.A438G						PASS	.	C		1770,2634	619.0+/-393.3	360,1050,792	34	34	34		438	-9.1	0	5	dbSNP_123	34	59,8533	801.1+/-407.4	0,59,4237	no	coding-synonymous	SREK1IP1	NM_173829.3		360,1109,5029	CC,CT,TT		0.6867,40.1907,14.0736		146/156	64020241	1829,11167	2202	4296	6498	SO:0001819	synonymous_variant	285672	exon5			ATTAGGTGTAGAA	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.438A>G	5.37:g.64020241T>C		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	180	90	0.5	NM_173829	Q32NC8	Silent	SNP	ENST00000513458.4	37	CCDS34171.1																																																																																			T|0.886;C|0.114	0.114	strong		0.294	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		C	64020241	T	C	64020241	2	2	22	1	0	0	0	0	0	0	0	1	14168	1683	59	2		2	SFRS12IP1	5	64020241	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3571507	64020241	116895019	2983	8091										
PPWD1	23398	hgsc.bcm.edu	37	chr5	64881936	64881936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattacgacatgacaggccAtacacactcagcatggctaa	7	12	1	1	rs27141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:64881936A>G	ENST00000261308.5	+	10	1797	c.1725A>G	c.(1723-1725)ccA>ccG	p.P575P	PPWD1_ENST00000535264.1_Silent_p.P545P|PPWD1_ENST00000538977.1_Silent_p.P419P	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	575	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ATGACAGGCCATACACACTCA	0.413													G|||	2897	0.578474	0.6309	0.5115	5008	,	,		20230	0.4137		0.6203	False		,,,				2504	0.682				p.P575P		Atlas-SNP	.											.	PPWD1	47	.	0			c.A1725G						PASS	.	G		2741,1665	507.6+/-366.7	852,1037,314	145	130	135		1725	-5.6	0.8	5	dbSNP_76	135	5584,3016	465.8+/-366.6	1800,1984,516	yes	coding-synonymous	PPWD1	NM_015342.2		2652,3021,830	GG,GA,AA		35.0698,37.7894,35.9911		575/647	64881936	8325,4681	2203	4300	6503	SO:0001819	synonymous_variant	23398	exon10			CAGGCCATACACA	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1725A>G	5.37:g.64881936A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	151	83	0.549669	NM_015342	B4DWR9|Q15002|Q7KZ89	Silent	SNP	ENST00000261308.5	37	CCDS3985.1																																																																																			A|0.396;G|0.604	0.604	strong		0.413	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		G	64881936	A	G	64881936	2	3	22	1	0	0	0	0	0	0	0	1	12414	204	8	2		2	PPWD1	5	64881936	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	861695	64881936	116033324	2984	8092										
NLN	57486	hgsc.bcm.edu	37	chr5	65054587	65054587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatgctgttggaatgctcGgtattgaggaagtaacttac	12	6	0	1	rs34339013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:65054587G>A	ENST00000380985.5	+	2	413	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	79			G -> S (in dbSNP:rs34339013).			mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGGAATGCTCGGTATTGAGGA	0.423													G|||	132	0.0263578	0.093	0.0115	5008	,	,		16846	0.0		0.001	False		,,,				2504	0.0				p.G79S		Atlas-SNP	.											.	NLN	51	.	0			c.G235A						PASS	.	G	SER/GLY	321,4085	171.9+/-202.1	14,293,1896	138	122	128		235	-1.6	0	5	dbSNP_126	128	0,8600		0,0,4300	yes	missense	NLN	NM_020726.4	56	14,293,6196	AA,AG,GG		0.0,7.2855,2.4681	benign	79/705	65054587	321,12685	2203	4300	6503	SO:0001583	missense	57486	exon2			ATGCTCGGTATTG	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.235G>A	5.37:g.65054587G>A	ENSP00000370372:p.Gly79Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	129	70	0.542636	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	32	0.014652014652014652	27	0.054878048780487805	5	0.013812154696132596	0	0.0	0	0.0	G	8.053	0.766380	0.15983	0.072855	0.0	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.06933	3.24	5.5	-1.6	0.08426	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.775582	0.12614	N	0.453646	T	0.00241	0.0007	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.27679	0.001;0.185	B;B	0.14578	0.001;0.011	T	0.44862	-0.9300	10	0.20519	T	0.43	-0.0913	12.5135	0.56019	0.3907:0.0:0.6093:0.0	rs34339013	79;79	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	S	79	ENSP00000370372:G79S	ENSP00000339283:G79S	G	+	1	0	NLN	65090343	0.024000	0.19004	0.001000	0.08648	0.784000	0.44337	0.931000	0.28871	-0.729000	0.04875	-0.880000	0.02959	GGT	G|0.973;A|0.027	0.027	strong		0.423	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			A	65054587	G	A	65054587	3	1	22	1	0	0	0	0	1	0	0	0	10467	1116	39	1	241	1	NLN	5	65054587	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	172651	65054587	115860673	2985	8093										
NLN	57486	hgsc.bcm.edu	37	chr5	65084101	65084101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcagacagaggaactcaAgtattccatagaccaagagt	9	9	2	4	rs6863012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:65084101A>G	ENST00000380985.5	+	8	1293	c.1115A>G	c.(1114-1116)aAg>aGg	p.K372R	NLN_ENST00000502464.1_Missense_Mutation_p.K268R	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	372			K -> R (in dbSNP:rs6863012).			mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GAGGAACTCAAGTATTCCATA	0.408													A|||	276	0.0551118	0.1944	0.0202	5008	,	,		20583	0.0		0.004	False		,,,				2504	0.001				p.K372R		Atlas-SNP	.											.	NLN	51	.	0			c.A1115G						PASS	.	A	ARG/LYS	803,3603	319.3+/-296.1	63,677,1463	131	135	133		1115	6.1	1	5	dbSNP_116	133	32,8568	22.8+/-68.1	0,32,4268	yes	missense	NLN	NM_020726.4	26	63,709,5731	GG,GA,AA		0.3721,18.2251,6.4201	benign	372/705	65084101	835,12171	2203	4300	6503	SO:0001583	missense	57486	exon8			AACTCAAGTATTC	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1115A>G	5.37:g.65084101A>G	ENSP00000370372:p.Lys372Arg	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	170	88	0.517647	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	108	0.04945054945054945	101	0.20528455284552846	7	0.019337016574585635	0	0.0	0	0.0	A	10.38	1.333268	0.24167	0.182251	0.003721	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.08458	3.09;3.09;3.09	6.07	6.07	0.98685	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.045838	0.85682	D	0.000000	T	0.00012	0.0000	N	0.12961	0.28	0.19575	P	0.9999611304	B;B;D	0.64830	0.001;0.004;0.994	B;B;D	0.73708	0.001;0.008;0.981	T	0.56366	-0.7991	9	0.12430	T	0.62	-22.309	16.6406	0.85098	1.0:0.0:0.0:0.0	rs6863012;rs6863012	67;372;372	Q96K48;Q9BYT8;Q9BQD0	.;NEUL_HUMAN;.	R	372;268;372;100	ENSP00000370372:K372R;ENSP00000423214:K268R;ENSP00000427417:K100R	ENSP00000339283:K372R	K	+	2	0	NLN	65119857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.934000	0.70138	2.326000	0.78906	0.533000	0.62120	AAG	A|0.936;G|0.064	0.064	strong		0.408	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			G	65084101	A	G	65084101	3	3	22	1	0	0	0	0	1	0	0	0	10467	72	3	3	1145	3	NLN	5	65084101	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29514	65084101	115831159	2986	8094										
NLN	57486	hgsc.bcm.edu	37	chr5	65108215	65108215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagaagggataatgaatccAgaggtatagtattatttttc	9	3	0	3	rs2254485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:65108215A>G	ENST00000380985.5	+	12	2155	c.1977A>G	c.(1975-1977)ccA>ccG	p.P659P	NLN_ENST00000502464.1_Silent_p.P555P	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	659						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TAATGAATCCAGAGGTATAGT	0.333													N|||	3503	0.699481	0.8828	0.6066	5008	,	,		16157	0.5665		0.675	False		,,,				2504	0.68				p.P659P		Atlas-SNP	.											.	NLN	51	.	0			c.A1977G						PASS	.	G		3844,562		1680,484,39	75	82	79		1977	3	1	5	dbSNP_100	79	6051,2549		2101,1849,350	no	coding-synonymous	NLN	NM_020726.4		3781,2333,389	GG,GA,AA		29.6395,12.7553,23.9197		659/705	65108215	9895,3111	2203	4300	6503	SO:0001819	synonymous_variant	57486	exon12			GAATCCAGAGGTA	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1977A>G	5.37:g.65108215A>G		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_020726	Q9ULJ4	Silent	SNP	ENST00000380985.5	37	CCDS3989.1	1477	0.6762820512820513	418	0.8495934959349594	229	0.6325966850828729	308	0.5384615384615384	522	0.6886543535620053	N	7.749	0.702850	0.15172	0.872447	0.703605	ENSG00000123213	ENST00000509935	.	.	.	5.37	2.96	0.34315	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.15037	-1.0451	3	.	.	.	-12.087	6.3845	0.21554	0.6947:0.0:0.1929:0.1124	rs2254485;rs56518529;rs59473118;rs2254485	.	.	.	G	256	.	.	R	+	1	2	NLN	65143971	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.334000	0.33827	0.141000	0.18875	-1.195000	0.01675	AGA	A|0.272;G|0.728	0.728	strong		0.333	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			G	65108215	A	G	65108215	2	3	22	1	0	0	0	0	0	0	0	1	10467	175	7	3		3	NLN	5	65108215	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24114	65108215	115807045	2987	8095										
MAST4	375449	hgsc.bcm.edu	37	chr5	66461583	66461583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtgaaagcagcagccaCaagccccggcctggccctga	11	16	0	2	rs56201012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:66461583C>T	ENST00000403625.2	+	29	6871	c.6576C>T	c.(6574-6576)caC>caT	p.H2192H	MAST4_ENST00000404260.3_Silent_p.H2195H|MAST4_ENST00000403666.1_Silent_p.H2003H|MAST4_ENST00000405643.1_Silent_p.H2013H|MAST4_ENST00000261569.7_Silent_p.H1998H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2195	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCAGCAGCCACAAGCCCCGGC	0.667													C|||	92	0.0183706	0.0673	0.0043	5008	,	,		14359	0.0		0.0	False		,,,				2504	0.0				p.H2192H		Atlas-SNP	.											.	MAST4	218	.	0			c.C6576T						PASS	.	C	,	176,3520		6,164,1678	6	10	9		6576,6009	1.2	0	5	dbSNP_129	9	0,8114		0,0,4057	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	6,164,5735	TT,TC,CC		0.0,4.7619,1.4903	,	2192/2624,2003/2435	66461583	176,11634	1848	4057	5905	SO:0001819	synonymous_variant	375449	exon29			CAGCCACAAGCCC	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6576C>T	5.37:g.66461583C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	C	0.038	-1.299299	0.01364	0.047619	0.0	ENSG00000069020	ENST00000443808	.	.	.	5.0	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22389	N	0.999143	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.25	3.4785	0.07594	0.1768:0.386:0.0:0.4373	rs56201012;rs61910710	.	.	.	X	1249	.	.	Q	+	1	0	MAST4	66497339	0.016000	0.18221	0.007000	0.13788	0.092000	0.18411	-0.102000	0.10956	0.022000	0.15160	-0.140000	0.14226	CAA	C|0.990;T|0.010	0.010	strong		0.667	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66461583	C	T	66461583	2	4	22	1	0	0	0	0	0	0	0	1	9327	477	17	2		2	MAST4	5	66461583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1353368	66461583	114453677	2988	8096										
CD180	4064	hgsc.bcm.edu	37	chr5	66479189	66479189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacctccaagctgcccacGgtctgaagtaggttggtctt	11	11	2	2	rs3733910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:66479189G>A	ENST00000256447.4	-	3	1639	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	494					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGCTGCCCACGGTCTGAAGTA	0.468													G|||	441	0.0880591	0.2716	0.0231	5008	,	,		20929	0.0218		0.0209	False		,,,				2504	0.0235				p.T494T		Atlas-SNP	.											.	CD180	78	.	0			c.C1482T						PASS	.	G		1037,3369	380.6+/-323.8	134,769,1300	67	68	68		1482	-9.7	0	5	dbSNP_107	68	69,8531	40.8+/-97.7	3,63,4234	no	coding-synonymous	CD180	NM_005582.2		137,832,5534	AA,AG,GG		0.8023,23.5361,8.5038		494/662	66479189	1106,11900	2203	4300	6503	SO:0001819	synonymous_variant	4064	exon3			GCCCACGGTCTGA	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1482C>T	5.37:g.66479189G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	113	57	0.504425	NM_005582	B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																			G|0.912;A|0.088	0.088	strong		0.468	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		A	66479189	G	A	66479189	2	1	22	1	0	0	0	0	0	0	0	1	2972	1103	39	1		1	CD180	5	66479189	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17606	66479189	114436071	2989	8097										
CD180	4064	hgsc.bcm.edu	37	chr5	66479383	66479383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcattaatgtgtaagcgggTaaatgccaaatcgaggagtt	12	5	0	0	rs2230523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:66479383T>C	ENST00000256447.4	-	3	1445	c.1288A>G	c.(1288-1290)Acc>Gcc	p.T430A	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	430			T -> A (in dbSNP:rs2230523).		B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGTAAGCGGGTAAATGCCAAA	0.458													T|||	93	0.0185703	0.0681	0.0043	5008	,	,		21421	0.0		0.0	False		,,,				2504	0.0				p.T430A		Atlas-SNP	.											CD180,NS,carcinoma,+1,2	CD180	78	2	0			c.A1288G						PASS	.	T	ALA/THR	254,4152	146.1+/-180.8	17,220,1966	175	181	179		1288	4.8	0.6	5	dbSNP_98	179	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CD180	NM_005582.2	58	17,221,6265	CC,CT,TT		0.0116,5.7649,1.9606	probably-damaging	430/662	66479383	255,12751	2203	4300	6503	SO:0001583	missense	4064	exon3			AGCGGGTAAATGC	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1288A>G	5.37:g.66479383T>C	ENSP00000256447:p.Thr430Ala	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	146	66	0.452055	NM_005582	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	20	0.009157509157509158	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	0	0.0	T	12.29	1.894010	0.33442	0.057649	1.16E-4	ENSG00000134061	ENST00000256447	T	0.58060	0.36	4.81	4.81	0.61882	.	0.083576	0.50627	D	0.000118	T	0.14270	0.0345	M	0.83223	2.63	0.47441	D	0.99942	D	0.55605	0.972	P	0.46026	0.501	T	0.42599	-0.9442	10	0.33141	T	0.24	.	13.091	0.59167	0.0:0.0:0.0:1.0	rs2230523;rs52799097;rs2230523	430	Q99467	CD180_HUMAN	A	430	ENSP00000256447:T430A	ENSP00000256447:T430A	T	-	1	0	CD180	66515139	0.998000	0.40836	0.627000	0.29227	0.064000	0.16182	2.658000	0.46733	2.020000	0.59435	0.460000	0.39030	ACC	T|0.978;C|0.022	0.022	strong		0.458	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		C	66479383	T	C	66479383	3	2	22	1	0	0	0	0	1	0	0	0	2972	1638	57	2	701	2	CD180	5	66479383	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	194	66479383	114435877	2990	8098										
SLC30A5	64924	hgsc.bcm.edu	37	chr5	68417643	68417643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgatcacagccattcacaCcatatgcatggacacagtga	7	12	3	2	rs164578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68417643C>T	ENST00000396591.3	+	13	2302	c.1692C>T	c.(1690-1692)caC>caT	p.H564H	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	564	His-rich loop.				cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCCATTCACACCATATGCATG	0.493													T|||	2122	0.423722	0.326	0.4207	5008	,	,		15173	0.5397		0.4245	False		,,,				2504	0.4376				p.H564H		Atlas-SNP	.											.	SLC30A5	54	.	0			c.C1692T						PASS	.	T		1472,2934	677.5+/-403.4	239,994,970	94	79	84		1692	2.1	1	5	dbSNP_79	84	3722,4878	614.5+/-396.2	830,2062,1408	no	coding-synonymous	SLC30A5	NM_022902.3		1069,3056,2378	TT,TC,CC		43.2791,33.409,39.9354		564/766	68417643	5194,7812	2203	4300	6503	SO:0001819	synonymous_variant	64924	exon13			TTCACACCATATG	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1692C>T	5.37:g.68417643C>T		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	266	122	0.458647	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																			C|0.589;T|0.411	0.411	strong		0.493	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68417643	C	T	68417643	2	4	22	1	0	0	0	0	0	0	0	1	14558	506	18	2		2	SLC30A5	5	68417643	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1938260	68417643	112497617	2991	8099										
SLC30A5	64924	hgsc.bcm.edu	37	chr5	68419054	68419054	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacatgttttggcagatacActtggcagcattggtgtgat	11	7	0	2	rs164572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68419054A>T	ENST00000396591.3	+	14	2410	c.1800A>T	c.(1798-1800)acA>acT	p.T600T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	600					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGCAGATACACTTGGCAGCA	0.318													A|||	2015	0.402356	0.2519	0.4107	5008	,	,		18363	0.5397		0.4225	False		,,,				2504	0.4376				p.T600T		Atlas-SNP	.											.	SLC30A5	54	.	0			c.A1800T						PASS	.	A		1157,3249	410.2+/-335.3	142,873,1188	129	114	119		1800	-1.5	1	5	dbSNP_79	119	3721,4879	533.2+/-382.4	829,2063,1408	no	coding-synonymous	SLC30A5	NM_022902.3		971,2936,2596	TT,TA,AA		43.2674,26.2596,37.5058		600/766	68419054	4878,8128	2203	4300	6503	SO:0001819	synonymous_variant	64924	exon14			AGATACACTTGGC	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1800A>T	5.37:g.68419054A>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	41	23	0.560976	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																			A|0.607;T|0.393	0.393	strong		0.318	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68419054	A	T	68419054	2	4	22	1	0	0	0	0	0	0	0	1	14558	146	6	5		5	SLC30A5	5	68419054	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1411	68419054	112496206	2992	8100										
CCNB1	891	hgsc.bcm.edu	37	chr5	68471232	68471232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttgtttcaggttgatgtCgagcaacatactttggccaa	10	7	1	1	rs2069439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68471232C>T	ENST00000256442.5	+	7	1204	c.951C>T	c.(949-951)gtC>gtT	p.V317V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	317					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AGGTTGATGTCGAGCAACATA	0.393													C|||	4	0.000798722	0.003	0.0	5008	,	,		20276	0.0		0.0	False		,,,				2504	0.0				p.V317V		Atlas-SNP	.											CCNB1,NS,carcinoma,+1,1	CCNB1	36	1	0			c.C951T						PASS	.	C		26,4380	33.5+/-64.1	0,26,2177	156	145	149		951	-7.2	0.9	5	dbSNP_96	149	0,8600		0,0,4300	no	coding-synonymous	CCNB1	NM_031966.2		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		317/434	68471232	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	891	exon7			TGATGTCGAGCAA	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"G2/mitotic-specific cyclin B1"	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.951C>T	5.37:g.68471232C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	125	47	0.376	NM_031966	A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	CCDS3997.1																																																																																			C|0.998;T|0.002	0.002	strong		0.393	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		T	68471232	C	T	68471232	2	4	22	1	0	0	0	0	0	0	0	1	2911	871	31	1		1	CCNB1	5	68471232	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52178	68471232	112444028	2993	8101										
CDK7	1022	hgsc.bcm.edu	37	chr5	68531253	68531253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaaggccagagataagaaCaccaaccaaattgtcgccat	7	11	0	2	rs2972388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68531253C>T	ENST00000256443.3	+	2	202	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Silent_p.N33N	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GAGATAAGAACACCAACCAAA	0.323								Nucleotide excision repair (NER)					T|||	3154	0.629792	0.7693	0.6427	5008	,	,		20512	0.499		0.5427	False		,,,				2504	0.6564				p.N33N		Atlas-SNP	.											.	CDK7	48	.	0			c.C99T						PASS	.	T		3116,1290	438.2+/-345.2	1097,922,184	135	148	143		99	4	1	5	dbSNP_101	143	4639,3961	551.9+/-386.0	1273,2093,934	no	coding-synonymous	CDK7	NM_001799.3		2370,3015,1118	TT,TC,CC		46.0581,29.2783,40.3737		33/347	68531253	7755,5251	2203	4300	6503	SO:0001819	synonymous_variant	1022	exon2			TAAGAACACCAAC		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.99C>T	5.37:g.68531253C>T		Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	311	310	0.996785	NM_001799	Q9BS60|Q9UE19	Silent	SNP	ENST00000256443.3	37	CCDS3999.1																																																																																			C|0.407;T|0.593	0.593	strong		0.323	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		T	68531253	C	T	68531253	2	4	22	1	0	0	0	0	0	0	0	1	3149	477	17	2		2	CDK7	5	68531253	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60021	68531253	112384007	2994	8102										
CCDC125	202243	hgsc.bcm.edu	37	chr5	68588029	68588029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttaccatcctctttaaggTgcttccaattcatccatttt	4	11	2	0	rs112794294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68588029T>C	ENST00000396496.2	-	10	1192	c.1085A>G	c.(1084-1086)cAc>cGc	p.H362R	CCDC125_ENST00000396499.1_Missense_Mutation_p.H362R|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.H237R			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	362						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTCTTTAAGGTGCTTCCAATT	0.318													T|||	58	0.0115815	0.0408	0.0058	5008	,	,		20797	0.0		0.0	False		,,,				2504	0.0				p.H362R		Atlas-SNP	.											.	CCDC125	41	.	0			c.A1085G						PASS	.	T	ARG/HIS	173,4231	113.3+/-151.4	1,171,2030	273	236	248		1085	-0.1	1	5	dbSNP_132	248	0,8600		0,0,4300	yes	missense	CCDC125	NM_176816.3	29	1,171,6330	CC,CT,TT		0.0,3.9282,1.3304	benign	362/512	68588029	173,12831	2202	4300	6502	SO:0001583	missense	202243	exon9			TTAAGGTGCTTCC	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1085A>G	5.37:g.68588029T>C	ENSP00000379754:p.His362Arg	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	180	79	0.438889	NM_176816	Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	19	0.0086996336996337	15	0.03048780487804878	4	0.011049723756906077	0	0.0	0	0.0	T	0.922	-0.715564	0.03206	0.039282	0.0	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T;T	0.44482	0.92;0.92;0.92	4.28	-0.0527	0.13821	.	0.770151	0.12698	N	0.446592	T	0.06325	0.0163	L	0.41710	1.295	0.24112	N	0.995833	B	0.06786	0.001	B	0.09377	0.004	T	0.15206	-1.0445	10	0.17832	T	0.49	0.0174	2.3018	0.04164	0.1438:0.086:0.2964:0.4739	.	362	Q86Z20	CC125_HUMAN	R	362;362;237	ENSP00000379754:H362R;ENSP00000379756:H362R;ENSP00000426795:H237R	ENSP00000379754:H362R	H	-	2	0	CCDC125	68623785	0.832000	0.29368	0.951000	0.38953	0.996000	0.88848	0.157000	0.16402	-0.073000	0.12842	0.459000	0.35465	CAC	T|0.986;C|0.014	0.014	strong		0.318	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		C	68588029	T	C	68588029	3	2	22	1	0	0	0	0	1	0	0	0	2761	1696	59	2	462	2	CCDC125	5	68588029	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56776	68588029	112327231	2995	8103										
RAD17	5884	hgsc.bcm.edu	37	chr5	68710032	68710032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaatagtgccagtgaactGcctgctagccagccccagcc	10	15	0	2	rs145547419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68710032G>A	ENST00000509734.1	+	18	2637	c.1959G>A	c.(1957-1959)ctG>ctA	p.L653L	RAD17_ENST00000282891.6_Silent_p.L556L|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354312.3_Silent_p.L642L|RAD17_ENST00000380774.3_Silent_p.L653L|RAD17_ENST00000358030.2_Silent_p.L477L|RAD17_ENST00000521422.1_Silent_p.L477L|RAD17_ENST00000345306.6_Silent_p.L642L|MARVELD2_ENST00000325631.5_5'Flank|RAD17_ENST00000305138.4_Silent_p.L642L|RAD17_ENST00000361732.2_Silent_p.L642L|RAD17_ENST00000354868.5_Silent_p.L642L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	653	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCAGTGAACTGCCTGCTAGCC	0.507								Other conserved DNA damage response genes																													p.L653L		Atlas-SNP	.											.	RAD17	49	.	0			c.G1959A						PASS	.	G	,,,,,,,	20,4386	28.1+/-56.4	0,20,2183	94	96	96		1926,1926,1959,1431,1668,1926,1926,1926	2.3	1	5	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAD17	NM_002873.1,NM_133338.1,NM_133339.1,NM_133340.1,NM_133341.1,NM_133342.1,NM_133343.1,NM_133344.1	,,,,,,,	0,20,6483	AA,AG,GG		0.0,0.4539,0.1538	,,,,,,,	642/671,642/671,653/682,477/506,556/585,642/671,642/671,642/671	68710032	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	5884	exon16			TGAACTGCCTGCT	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1959G>A	5.37:g.68710032G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	118	53	0.449153	NM_133339	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	CCDS4003.1																																																																																			G|0.998;A|0.002	0.002	strong		0.507	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		A	68710032	G	A	68710032	2	1	22	1	0	0	0	0	0	0	0	1	12979	1306	46	2		2	RAD17	5	68710032	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	122003	68710032	112205228	2996	8104										
MARVELD2	153562	hgsc.bcm.edu	37	chr5	68715576	68715576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcaccaccagcctctccaGcaagaccaaaccaccgttcg	6	18	2	1	rs140764671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:68715576G>A	ENST00000325631.5	+	2	438	c.364G>A	c.(364-366)Gca>Aca	p.A122T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.A122T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	122					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGCCTCTCCAGCAAGACCAAA	0.532													G|||	21	0.00419329	0.0151	0.0014	5008	,	,		18849	0.0		0.0	False		,,,				2504	0.0				p.A122T		Atlas-SNP	.											.	MARVELD2	49	.	0			c.G364A						PASS	.	G	THR/ALA	75,4331	65.3+/-102.7	1,73,2129	53	54	54		364	0	0	5	dbSNP_134	54	0,8600		0,0,4300	yes	missense	MARVELD2	NM_001038603.2	58	1,73,6429	AA,AG,GG		0.0,1.7022,0.5767	benign	122/559	68715576	75,12931	2203	4300	6503	SO:0001583	missense	153562	exon2			TCTCCAGCAAGAC	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.364G>A	5.37:g.68715576G>A	ENSP00000323264:p.Ala122Thr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_001244734	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	CCDS34175.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	2.825	-0.243931	0.05906	0.017022	0.0	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000515844;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T;T	0.47869	1.48;0.9;0.83;1.48;1.45;1.45	5.07	-0.0336	0.13900	.	0.712658	0.14187	N	0.335596	T	0.12305	0.0299	N	0.12746	0.255	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.004;0.006;0.002	T	0.10337	-1.0634	10	0.33940	T	0.23	-24.4939	4.5252	0.11978	0.4245:0.0:0.4294:0.1461	.	122;122;122	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	T	122	ENSP00000323264:A122T;ENSP00000396244:A122T;ENSP00000421902:A122T;ENSP00000423490:A122T;ENSP00000414776:A122T;ENSP00000398922:A122T	ENSP00000282886:A122T	A	+	1	0	MARVELD2	68751332	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.332000	0.07904	-0.087000	0.12528	-0.140000	0.14226	GCA	G|0.995;A|0.005	0.005	strong		0.532	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		A	68715576	G	A	68715576	3	1	22	1	0	0	0	0	1	0	0	0	9318	971	34	2	366	2	MARVELD2	5	68715576	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5544	68715576	112199684	2997	8105										
NAIP	4671	hgsc.bcm.edu	37	chr5	70281620	70281621	+	Frame_Shift_Del	DEL	AT	AT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagatatcaagcaaagacAtgtggcggaaactggcgctg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:70281620_70281621delAT	ENST00000517649.1	-	12	1545_1546	c.1255_1256delAT	c.(1255-1257)atgfs	p.M419fs	NAIP_ENST00000503719.2_Frame_Shift_Del_p.M257fs|NAIP_ENST00000194097.4_Frame_Shift_Del_p.M419fs|NAIP_ENST00000508426.2_Frame_Shift_Del_p.M419fs|NAIP_ENST00000523981.1_Frame_Shift_Del_p.M257fs	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	419					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAGCAAAGACATGTGGCGGAAA	0.5																																					p.419_419del		Atlas-Indel	.											.	NAIP	38	.	0			c.1256_1257del						PASS	.																																			SO:0001589	frameshift_variant	4671	exon12			.	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.1255_1256delAT	5.37:g.70281620_70281621delAT	ENSP00000428657:p.Met419fs	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	205	32	0.156098	NM_004536	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Del	DEL	ENST00000517649.1	37	CCDS4009.1																																																																																			.	.	none		0.5	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		-	70281621	AT	-	70281620	7	5	22	1	0	1	0	1	0	0	0	0	10147	217	8	0	2979	0	NAIP	5	70281620	Frame_Shift_Del	DEL	AT	TCGA-G8-6324-01A-11D-2210-10	1566044	70281620	110633640	2998	8106										
BDP1	55814	hgsc.bcm.edu	37	chr5	70800475	70800475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacatggaagatcaatcgCgtaaagattttgaagaggaa	10	5	1	4	rs3761966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:70800475C>T	ENST00000358731.4	+	16	2532	c.2269C>T	c.(2269-2271)Cgt>Tgt	p.R757C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	757			R -> C (in dbSNP:rs3761966). {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCAATCGCGTAAAGATTT	0.343													C|||	1621	0.323682	0.1067	0.4928	5008	,	,		16692	0.505		0.335	False		,,,				2504	0.2986				p.R757C		Atlas-SNP	.											.	BDP1	204	.	0			c.C2269T						PASS	.	C	CYS/ARG	547,3127		37,473,1327	89	81	84		2269	-0.2	0	5	dbSNP_107	84	2808,5364		507,1794,1785	yes	missense	BDP1	NM_018429.2	180	544,2267,3112	TT,TC,CC		34.3612,14.8884,28.3218	benign	757/2625	70800475	3355,8491	1837	4086	5923	SO:0001583	missense	55814	exon16			CAATCGCGTAAAG	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2269C>T	5.37:g.70800475C>T	ENSP00000351575:p.Arg757Cys	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	253	144	0.56917	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	750	0.3434065934065934	49	0.09959349593495935	159	0.43922651933701656	291	0.5087412587412588	251	0.3311345646437995	C	0.484	-0.878384	0.02550	0.148884	0.343612	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.09445	2.98	4.92	-0.211	0.13172	.	0.828507	0.10896	N	0.622116	T	0.00012	0.0000	N	0.01003	-1.06	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37709	-0.9694	9	0.35671	T	0.21	.	3.227	0.06735	0.1743:0.2987:0.0:0.527	rs3761966;rs58491588;rs3761966	757;757;757	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	757;757;337;757	ENSP00000351575:R757C	ENSP00000351575:R757C	R	+	1	0	BDP1	70836231	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.258000	0.08733	-0.150000	0.11195	-0.247000	0.11927	CGT	C|0.667;T|0.333	0.333	strong		0.343	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70800475	C	T	70800475	3	4	22	1	0	0	0	0	1	0	0	0	1395	768	27	1	2331	1	BDP1	5	70800475	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	518855	70800475	110114785	2999	8107										
BDP1	55814	hgsc.bcm.edu	37	chr5	70818150	70818150	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtatgttcctagttcagcaCaaatgacaagaaggaaattc	8	8	1	2	rs12187098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:70818150C>G	ENST00000358731.4	+	23	5289	c.5026C>G	c.(5026-5028)Caa>Gaa	p.Q1676E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1676			Q -> E (in dbSNP:rs12187098).		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGTTCAGCACAAATGACAAG	0.348													C|||	101	0.0201677	0.0454	0.013	5008	,	,		17087	0.0		0.0298	False		,,,				2504	0.002				p.Q1676E		Atlas-SNP	.											.	BDP1	204	.	0			c.C5026G						PASS	.	C	GLU/GLN	182,3514		3,176,1669	130	127	128		5026	4.5	0.1	5	dbSNP_120	128	196,7988		6,184,3902	yes	missense	BDP1	NM_018429.2	29	9,360,5571	GG,GC,CC		2.3949,4.9242,3.1818	possibly-damaging	1676/2625	70818150	378,11502	1848	4092	5940	SO:0001583	missense	55814	exon23			TCAGCACAAATGA	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5026C>G	5.37:g.70818150C>G	ENSP00000351575:p.Gln1676Glu	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	173	76	0.439306	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	41	0.018772893772893772	19	0.03861788617886179	5	0.013812154696132596	0	0.0	17	0.022427440633245383	C	8.668	0.902198	0.17760	0.049242	0.023949	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10477	2.87	5.35	4.48	0.54585	.	1.312210	0.05133	N	0.493011	T	0.01489	0.0048	L	0.47716	1.5	0.49687	D	0.999812	P;P	0.42871	0.557;0.792	B;B	0.37601	0.116;0.254	T	0.48514	-0.9029	10	0.02654	T	1	.	11.1063	0.48205	0.0:0.9126:0.0:0.0874	rs12187098;rs13169583;rs52833258;rs56647603;rs12187098	1676;1676	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	E	1676;1256	ENSP00000351575:Q1676E	ENSP00000351575:Q1676E	Q	+	1	0	BDP1	70853906	0.019000	0.18553	0.098000	0.21074	0.052000	0.14988	2.086000	0.41643	1.251000	0.43983	0.555000	0.69702	CAA	C|0.971;G|0.029	0.029	strong		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70818150	C	G	70818150	3	3	22	1	0	0	0	0	1	0	0	0	1395	479	17	4	5116	4	BDP1	5	70818150	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17675	70818150	110097110	3000	8108										
BDP1	55814	hgsc.bcm.edu	37	chr5	70845400	70845400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagctcccatattggtcaAatcagtgaataccgaagaaa	8	10	2	2	rs59354595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:70845400A>G	ENST00000358731.4	+	34	7225	c.6962A>G	c.(6961-6963)aAa>aGa	p.K2321R	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2321					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATATTGGTCAAATCAGTGAAT	0.418													A|||	204	0.0407348	0.146	0.013	5008	,	,		18672	0.0		0.002	False		,,,				2504	0.0				p.K2321R		Atlas-SNP	.											.	BDP1	204	.	0			c.A6962G						PASS	.	A	ARG/LYS	479,3309		28,423,1443	93	88	89		6962	2.3	0.8	5	dbSNP_129	89	3,8211		0,3,4104	yes	missense	BDP1	NM_018429.2	26	28,426,5547	GG,GA,AA		0.0365,12.6452,4.016	benign	2321/2625	70845400	482,11520	1894	4107	6001	SO:0001583	missense	55814	exon34			TGGTCAAATCAGT	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6962A>G	5.37:g.70845400A>G	ENSP00000351575:p.Lys2321Arg	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	228	103	0.451754	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	79	0.036172161172161175	73	0.1483739837398374	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	A	12.53	1.964625	0.34659	0.126452	3.65E-4	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.04551	3.6	5.96	2.27	0.28462	.	0.277827	0.31577	N	0.007413	T	0.00012	0.0000	N	0.21448	0.665	0.80722	D	1	B	0.28178	0.202	B	0.26202	0.067	T	0.61033	-0.7144	10	0.12766	T	0.61	.	4.5339	0.12019	0.6602:0.1661:0.1737:0.0	rs59354595;rs61734266	2321	A6H8Y1	BDP1_HUMAN	R	2321;1869	ENSP00000351575:K2321R	ENSP00000351575:K2321R	K	+	2	0	BDP1	70881156	0.700000	0.27796	0.848000	0.33437	0.954000	0.61252	0.169000	0.16641	0.157000	0.19338	0.533000	0.62120	AAA	A|0.963;G|0.037	0.037	strong		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70845400	A	G	70845400	3	3	22	1	0	0	0	0	1	0	0	0	1395	14	1	2	7096	2	BDP1	5	70845400	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27250	70845400	110069860	3001	8109										
BDP1	55814	hgsc.bcm.edu	37	chr5	70858194	70858194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtccatagtaagaaacgCctaaaacctcttatacctgg	6	11	1	1	rs277941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:70858194C>T	ENST00000358731.4	+	38	7853	c.7590C>T	c.(7588-7590)cgC>cgT	p.R2530R	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2530					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTAAGAAACGCCTAAAACCTC	0.373													.|||	1621	0.323682	0.1067	0.4928	5008	,	,		15735	0.505		0.335	False		,,,				2504	0.2986				p.R2530R		Atlas-SNP	.											.	BDP1	204	.	0			c.C7590T						PASS	.	C		549,3081		38,473,1304	74	69	71		7590	-0.1	0.4	5	dbSNP_79	71	2805,5341		509,1787,1777	no	coding-synonymous	BDP1	NM_018429.2		547,2260,3081	TT,TC,CC		34.4341,15.124,28.4817		2530/2625	70858194	3354,8422	1815	4073	5888	SO:0001819	synonymous_variant	55814	exon38			GAAACGCCTAAAA	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7590C>T	5.37:g.70858194C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																			C|0.662;T|0.338	0.338	strong		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70858194	C	T	70858194	2	4	22	1	0	0	0	0	0	0	0	1	1395	726	26	2		2	BDP1	5	70858194	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12794	70858194	110057066	3002	8110										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71489695	71489695	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttctttaaaacccagatCggggagttactaagcaccac	7	11	2	1	rs2227915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71489695C>T	ENST00000296755.7	+	5	811	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	171					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAACCCAGATCGGGGAGTTAC	0.433													C|||	156	0.0311502	0.1135	0.0086	5008	,	,		20619	0.0		0.0	False		,,,				2504	0.0				p.I171I	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.C513T						PASS	.	C		353,4053	182.9+/-210.6	14,325,1864	48	47	48		513	2.3	1	5	dbSNP_123	48	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	MAP1B	NM_005909.3		14,329,6160	TT,TC,CC		0.0465,8.0118,2.7449		171/2469	71489695	357,12649	2203	4300	6503	SO:0001819	synonymous_variant	4131	exon5			CCAGATCGGGGAG	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.513C>T	5.37:g.71489695C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	49	28	0.571429	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																			C|0.968;T|0.032	0.032	strong		0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71489695	C	T	71489695	2	4	22	1	0	0	0	0	0	0	0	1	9228	874	31	1		1	MAP1B	5	71489695	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	631501	71489695	109425565	3003	8111										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71495320	71495320	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgttacgagactgcagaGaaaatcactagaacccctca	7	11	2	3	rs115914542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71495320G>A	ENST00000296755.7	+	5	6436	c.6138G>A	c.(6136-6138)gaG>gaA	p.E2046E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2046					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E2046D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACTGCAGAGAAAATCACTA	0.458													G|||	7	0.00139776	0.0053	0.0	5008	,	,		19505	0.0		0.0	False		,,,				2504	0.0				p.E2046E	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											MAP1B,rectum,carcinoma,0,2	MAP1B	243	2	2	Substitution - Missense(2)	large_intestine(2)	c.G6138A						PASS	.	G		10,4396	15.5+/-35.6	0,10,2193	117	129	125		6138	3.9	0.9	5	dbSNP_133	125	0,8600		0,0,4300	no	coding-synonymous	MAP1B	NM_005909.3		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		2046/2469	71495320	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	4131	exon5			TGCAGAGAAAATC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6138G>A	5.37:g.71495320G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	163	87	0.533742	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																			G|0.999;A|0.001	0.001	strong		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71495320	G	A	71495320	2	1	22	1	0	0	0	0	0	0	0	1	9228	933	33	2		2	MAP1B	5	71495320	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5625	71495320	109419940	3004	8112										
MRPS27	23107	hgsc.bcm.edu	37	chr5	71519664	71519664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagccttcagcactgcaCccagcacatcgagctgtgga	10	14	2	1	rs3209157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71519664C>T	ENST00000261413.5	-	10	890	c.851G>A	c.(850-852)gGt>gAt	p.G284D	MRPS27_ENST00000457646.4_Missense_Mutation_p.G228D|MRPS27_ENST00000513900.1_Missense_Mutation_p.G298D|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	284			G -> D (polymorphism confirmed at protein level; dbSNP:rs3209157). {ECO:0000269|PubMed:17488105, ECO:0000269|PubMed:9039502}.			mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CAGCACTGCACCCAGCACATC	0.502													T|||	1332	0.265974	0.3147	0.1974	5008	,	,		17501	0.0218		0.4056	False		,,,				2504	0.3569				p.G284D		Atlas-SNP	.											MRPS27,NS,neuroblastoma,-1,1	MRPS27	23	1	0			c.G851A						scavenged	.	T	ASP/GLY	1455,2951	680.1+/-403.8	257,941,1005	64	63	63		851	6.2	0.8	5	dbSNP_105	63	3202,5398	652.1+/-400.9	617,1968,1715	yes	missense	MRPS27	NM_015084.2	94	874,2909,2720	TT,TC,CC		37.2326,33.0232,35.8066	benign	284/415	71519664	4657,8349	2203	4300	6503	SO:0001583	missense	23107	exon10			ACTGCACCCAGCA	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.851G>A	5.37:g.71519664C>T	ENSP00000261413:p.Gly284Asp	Somatic	101	2	0.019802		WXS	Illumina HiSeq	Phase_I	116	59	0.508621	NM_015084	B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	CCDS4013.1	548	0.2509157509157509	141	0.2865853658536585	76	0.20994475138121546	9	0.015734265734265736	322	0.42480211081794195	T	0.020	-1.444956	0.01089	0.330232	0.372326	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.16	6.16	0.99307	.	0.384491	0.32785	N	0.005656	T	0.00012	0.0000	N	0.00500	-1.43	0.09310	P	0.9999999999636834	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.42916	-0.9423	9	0.13470	T	0.59	-7.2913	7.8391	0.29387	0.0:0.0691:0.1375:0.7933	rs3209157;rs11557157;rs17375461;rs17410278;rs52791834;rs17375461	298;65;284	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	D	284;228;298;228	ENSP00000261413:G284D;ENSP00000428120:G228D;ENSP00000426941:G298D;ENSP00000426176:G228D	ENSP00000261413:G284D	G	-	2	0	MRPS27	71555420	0.970000	0.33590	0.774000	0.31636	0.002000	0.02628	1.751000	0.38339	1.152000	0.42452	-0.269000	0.10298	GGT	T|0.258;G|0.146	0.258	strong		0.502	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		T	71519664	C	T	71519664	3	4	22	1	0	0	0	0	1	0	0	0	9838	507	18	2	401	2	MRPS27	5	71519664	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24344	71519664	109395596	3005	8113										
MRPS27	23107	hgsc.bcm.edu	37	chr5	71524163	71524163	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttaggcctggaagcaaAagggatgcaccaaagttcct	11	8	0	0	rs10942927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71524163A>T	ENST00000261413.5	-	8	663	c.624T>A	c.(622-624)ctT>ctA	p.L208L	MRPS27_ENST00000515404.1_Silent_p.L152L|MRPS27_ENST00000457646.4_Silent_p.L152L|MRPS27_ENST00000513900.1_Silent_p.L222L|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	208						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTGGAAGCAAAAGGGATGCAC	0.398													T|||	955	0.190695	0.1256	0.17	5008	,	,		18027	0.0218		0.3688	False		,,,				2504	0.2843				p.L208L		Atlas-SNP	.											.	MRPS27	23	.	0			c.T624A						PASS	.	T		680,3726	763.4+/-413.2	53,574,1576	156	152	153		624	-1.9	0.1	5	dbSNP_120	153	2944,5656	669.0+/-402.6	520,1904,1876	no	coding-synonymous	MRPS27	NM_015084.2		573,2478,3452	TT,TA,AA		34.2326,15.4335,27.8641		208/415	71524163	3624,9382	2203	4300	6503	SO:0001819	synonymous_variant	23107	exon8			AAGCAAAAGGGAT	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.624T>A	5.37:g.71524163A>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	64	30	0.46875	NM_015084	B4DRT2|Q6P1S1	Silent	SNP	ENST00000261413.5	37	CCDS4013.1																																																																																			A|0.768;T|0.232	0.232	strong		0.398	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		T	71524163	A	T	71524163	2	4	22	1	0	0	0	0	0	0	0	1	9838	1	1	5		5	MRPS27	5	71524163	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4499	71524163	109391097	3006	8114										
PTCD2	79810	hgsc.bcm.edu	37	chr5	71618069	71618069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaagaaagtggctgttgcAtgtaatctttctggcactaa	9	7	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71618069A>G	ENST00000380639.5	+	2	214	c.198A>G	c.(196-198)gcA>gcG	p.A66A	PTCD2_ENST00000543322.1_Silent_p.A66A|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_Silent_p.A66A|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	66					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGCTGTTGCATGTAATCTTT	0.299																																					p.A66A		Atlas-SNP	.											.	PTCD2	31	.	0			c.A198G						PASS	.						107	119	115					5																	71618069		1815	4077	5892	SO:0001819	synonymous_variant	79810	exon2			TGTTGCATGTAAT	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.198A>G	5.37:g.71618069A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	75	24	0.32	NM_024754	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	CCDS4014.2																																																																																			.	.	none		0.299	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		G	71618069	A	G	71618069	2	3	22	1	0	0	0	0	0	0	0	1	12728	204	8	2		2	PTCD2	5	71618069	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93906	71618069	109297191	3007	8115										
ZNF366	167465	hgsc.bcm.edu	37	chr5	71739602	71739602	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttagatacctaaaagcactGcttgtttttccattttcctc	4	11	0	1	rs13188519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71739602G>C	ENST00000318442.5	-	5	2706	c.2216C>G	c.(2215-2217)gCa>gGa	p.A739G	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	739	Interaction with CTBP1.|Interaction with NRIP1.		A -> G (in dbSNP:rs13188519).		negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TAAAAGCACTGCTTGTTTTTC	0.388													G|||	363	0.072484	0.0605	0.0389	5008	,	,		18997	0.0714		0.0964	False		,,,				2504	0.089				p.A739G		Atlas-SNP	.											.	ZNF366	108	.	0			c.C2216G						PASS	.	G	GLY/ALA	259,4117		4,251,1933	46	52	50		2216	5.9	1	5	dbSNP_121	50	927,7669		45,837,3416	yes	missense	ZNF366	NM_152625.1	60	49,1088,5349	CC,CG,GG		10.7841,5.9186,9.1428	benign	739/745	71739602	1186,11786	2188	4298	6486	SO:0001583	missense	167465	exon5			AGCACTGCTTGTT	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2216C>G	5.37:g.71739602G>C	ENSP00000313158:p.Ala739Gly	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	96	35	0.364583	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	140	0.0641025641025641	30	0.06097560975609756	13	0.03591160220994475	20	0.03496503496503497	77	0.10158311345646438	G	16.77	3.215688	0.58452	0.059186	0.107841	ENSG00000178175	ENST00000318442	T	0.10288	2.89	5.87	5.87	0.94306	.	0.171581	0.41605	D	0.000860	T	0.00210	0.0006	L	0.29908	0.895	0.33098	D	0.538779	P	0.36282	0.546	B	0.32149	0.141	T	0.05386	-1.0888	10	0.59425	D	0.04	-6.1181	16.1124	0.81273	0.0:0.0:0.8657:0.1343	rs13188519;rs52832178;rs13188519	739	Q8N895	ZN366_HUMAN	G	739	ENSP00000313158:A739G	ENSP00000313158:A739G	A	-	2	0	ZNF366	71775358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.660000	0.61511	2.941000	0.99782	0.655000	0.94253	GCA	G|0.916;C|0.084	0.084	strong		0.388	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			C	71739602	G	C	71739602	3	2	22	1	0	0	0	0	1	0	0	0	17867	1319	46	4	22	4	ZNF366	5	71739602	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121533	71739602	109175658	3008	8116										
ZNF366	167465	hgsc.bcm.edu	37	chr5	71740073	71740073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctgctccagactcctcAggacaccggctgtctgtgcc	9	18	2	1	rs116305374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:71740073A>T	ENST00000318442.5	-	5	2235	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	582	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGACTCCTCAGGACACCGGC	0.607													A|||	9	0.00179712	0.0068	0.0	5008	,	,		15362	0.0		0.0	False		,,,				2504	0.0				p.L582Q		Atlas-SNP	.											.	ZNF366	108	.	0			c.T1745A						PASS	.	A	GLN/LEU	17,4379		0,17,2181	36	44	41		1745	5.9	1	5	dbSNP_133	41	0,8588		0,0,4294	yes	missense	ZNF366	NM_152625.1	113	0,17,6475	TT,TA,AA		0.0,0.3867,0.1309	probably-damaging	582/745	71740073	17,12967	2198	4294	6492	SO:0001583	missense	167465	exon5			CTCCTCAGGACAC	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1745T>A	5.37:g.71740073A>T	ENSP00000313158:p.Leu582Gln	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	102	42	0.411765	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.9	4.063034	0.76187	0.003867	0.0	ENSG00000178175	ENST00000318442	T	0.09723	2.95	5.87	5.87	0.94306	.	0.000000	0.52532	D	0.000062	T	0.17023	0.0409	L	0.36672	1.1	0.47737	D	0.999503	D	0.63880	0.993	D	0.62955	0.909	T	0.07616	-1.0763	10	0.07482	T	0.82	-37.1713	11.6024	0.51010	0.931:0.0:0.069:0.0	.	582	Q8N895	ZN366_HUMAN	Q	582	ENSP00000313158:L582Q	ENSP00000313158:L582Q	L	-	2	0	ZNF366	71775829	1.000000	0.71417	0.992000	0.48379	0.753000	0.42808	6.038000	0.70964	2.371000	0.80710	0.533000	0.62120	CTG	A|0.999;T|0.001	0.001	strong		0.607	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71740073	A	T	71740073	3	4	22	1	0	0	0	0	1	0	0	0	17867	188	7	5	493	5	ZNF366	5	71740073	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	471	71740073	109175187	3009	8117										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73142296	73142296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctatcaagtaatctacagtCgaaggtattcttattgctat	6	7	4	0	rs2973571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:73142296C>T	ENST00000426542.2	+	11	1651	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S544L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S544L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S544L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S544L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S231L|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S544L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	544			S -> L (in dbSNP:rs2973571).		central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AATCTACAGTCGAAGGTATTC	0.353													C|||	862	0.172125	0.121	0.2522	5008	,	,		18407	0.0764		0.2575	False		,,,				2504	0.1953				p.S544L		Atlas-SNP	.											.	.	.	.	0			c.C1631T						PASS	.	C	LEU/SER,LEU/SER	586,3070		53,480,1295	74	68	70		1631,1631	-0.9	0	5	dbSNP_101	70	2232,5942		319,1594,2174	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	145,145	372,2074,3469	TT,TC,CC		27.3061,16.0284,23.8208	benign,benign	544/1732,544/1706	73142296	2818,9012	1828	4087	5915	SO:0001583	missense	64283	exon12			TACAGTCGAAGGT		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1631C>T	5.37:g.73142296C>T	ENSP00000412175:p.Ser544Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	104	54	0.519231	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	385	0.1762820512820513	54	0.10975609756097561	91	0.2513812154696133	41	0.07167832167832168	199	0.262532981530343	C	11.38	1.623055	0.28889	0.160284	0.273061	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10668	3.09;3.07;3.08;2.85;3.07;3.08;2.93	5.69	-0.952	0.10366	.	.	.	.	.	T	0.00012	0.0000	N	0.04880	-0.145	0.80722	P	0.0	B;B;B;B;B	0.17667	0.001;0.001;0.001;0.023;0.001	B;B;B;B;B	0.12156	0.001;0.001;0.001;0.007;0.002	T	0.49000	-0.8984	8	0.20046	T	0.44	.	10.3084	0.43693	0.0:0.5982:0.0:0.4018	rs2973571;rs17553106;rs52832546;rs2973571	231;544;544;544;544	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	L	544;544;544;544;544;544;231	ENSP00000296794:S544L;ENSP00000441913:S544L;ENSP00000441436:S544L;ENSP00000287898:S544L;ENSP00000411459:S544L;ENSP00000412175:S544L;ENSP00000296799:S231L	ENSP00000287898:S544L	S	+	2	0	RP11-428C6.1	73178052	0.000000	0.05858	0.008000	0.14137	0.895000	0.52256	0.016000	0.13377	-0.249000	0.09569	0.484000	0.47621	TCG	C|0.829;T|0.171	0.171	strong		0.353	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73142296	C	T	73142296	3	4	22	1	0	0	0	0	1	0	0	0	13283	893	31	1	1673	1	RGNEF	5	73142296	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1402223	73142296	107772964	3010	8118										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73148481	73148481	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgtcttgtagagcaaaGagcttacagcttatcggagc	11	8	2	2	rs2973566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:73148481G>A	ENST00000426542.2	+	13	1774	c.1754G>A	c.(1753-1755)aGa>aAa	p.R585K	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R585K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R585K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R585K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R585K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R272K|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R585K			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	585			R -> K (in dbSNP:rs2973566).		central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GTAGAGCAAAGAGCTTACAGC	0.378													G|||	821	0.163938	0.0877	0.2464	5008	,	,		21296	0.0754		0.2654	False		,,,				2504	0.1953				p.R585K		Atlas-SNP	.											.	.	.	.	0			c.G1754A						PASS	.	G	LYS/ARG,LYS/ARG	477,3293		35,407,1443	165	156	159		1754,1754	6.2	1	5	dbSNP_101	159	2289,5937		330,1629,2154	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	26,26	365,2036,3597	AA,AG,GG		27.8264,12.6525,23.0577	probably-damaging,probably-damaging	585/1732,585/1706	73148481	2766,9230	1885	4113	5998	SO:0001583	missense	64283	exon14			AGCAAAGAGCTTA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1754G>A	5.37:g.73148481G>A	ENSP00000412175:p.Arg585Lys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	171	85	0.497076	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	374	0.17124542124542125	43	0.08739837398373984	88	0.2430939226519337	39	0.06818181818181818	204	0.2691292875989446	G	32	5.116278	0.94339	0.126525	0.278264	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.13778	2.77;2.74;2.75;2.56;2.74;2.75;2.57	6.17	6.17	0.99709	.	.	.	.	.	T	0.00012	0.0000	M	0.66939	2.045	0.31753	P	0.634368	D;D;D;D	0.63046	0.986;0.986;0.986;0.992	P;P;P;P	0.60117	0.744;0.744;0.744;0.869	T	0.22277	-1.0221	8	0.41790	T	0.15	.	14.6223	0.68594	0.0696:0.0:0.9304:0.0	rs2973566;rs52806455;rs57829934;rs2973566	272;585;585;585	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	K	585;585;585;585;585;585;272	ENSP00000296794:R585K;ENSP00000441913:R585K;ENSP00000441436:R585K;ENSP00000287898:R585K;ENSP00000411459:R585K;ENSP00000412175:R585K;ENSP00000296799:R272K	ENSP00000287898:R585K	R	+	2	0	RP11-428C6.1	73184237	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.093000	0.71422	2.941000	0.99782	0.655000	0.94253	AGA	G|0.830;A|0.170	0.170	strong		0.378	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73148481	G	A	73148481	3	1	22	1	0	0	0	0	1	0	0	0	13283	942	33	2	1804	2	RGNEF	5	73148481	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6185	73148481	107766779	3011	8119										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73163831	73163831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccagaagtgttccaggCaccaccttggaaaggtaagg	12	9	0	1	rs2931423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:73163831C>T	ENST00000426542.2	+	18	2303	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	ARHGEF28_ENST00000296799.4_Silent_p.G448G|ARHGEF28_ENST00000287898.5_Silent_p.G761G|ARHGEF28_ENST00000437974.1_Silent_p.G761G|ARHGEF28_ENST00000296794.6_Silent_p.G761G|ARHGEF28_ENST00000513042.2_Silent_p.G761G|ARHGEF28_ENST00000545377.1_Silent_p.G761G			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	761					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GTGTTCCAGGCACCACCTTGG	0.537													C|||	1115	0.222644	0.177	0.3631	5008	,	,		20460	0.1389		0.3012	False		,,,				2504	0.1902				p.G761G		Atlas-SNP	.											.	.	.	.	0			c.C2283T						PASS	.	C	,	795,3125		85,625,1250	100	95	97		2283,2283	-1.7	0.1	5	dbSNP_101	97	2594,5698		409,1776,1961	no	coding-synonymous,coding-synonymous	RGNEF	NM_001080479.2,NM_001177693.1	,	494,2401,3211	TT,TC,CC		31.2832,20.2806,27.7514	,	761/1732,761/1706	73163831	3389,8823	1960	4146	6106	SO:0001819	synonymous_variant	64283	exon19			TCCAGGCACCACC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2283C>T	5.37:g.73163831C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																			C|0.759;T|0.241	0.241	strong		0.537	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73163831	C	T	73163831	2	4	22	1	0	0	0	0	0	0	0	1	13283	697	25	2		2	RGNEF	5	73163831	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15350	73163831	107751429	3012	8120										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73163965	73163965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttggagtctgagagtgacCataacagctgcagaagcagg	13	9	1	3	rs2973558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:73163965C>A	ENST00000426542.2	+	19	2358	c.2338C>A	c.(2338-2340)Cat>Aat	p.H780N	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.H780N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.H780N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.H780N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.H780N|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.H467N|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.H780N			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	780			H -> N (in dbSNP:rs2973558).		central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGAGAGTGACCATAACAGCTG	0.502													A|||	1115	0.222644	0.177	0.3631	5008	,	,		18281	0.1389		0.3012	False		,,,				2504	0.1902				p.H780N		Atlas-SNP	.											.	.	.	.	0			c.C2338A						PASS	.	A	ASN/HIS,ASN/HIS	792,3138		87,618,1260	56	55	55		2338,2338	-0.6	0	5	dbSNP_101	55	2584,5732		406,1772,1980	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	68,68	493,2390,3240	AA,AC,CC		31.0726,20.1527,27.5682	benign,benign	780/1732,780/1706	73163965	3376,8870	1965	4158	6123	SO:0001583	missense	64283	exon20			AGTGACCATAACA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2338C>A	5.37:g.73163965C>A	ENSP00000412175:p.His780Asn	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	150	79	0.526667	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	528	0.24175824175824176	92	0.18699186991869918	122	0.3370165745856354	78	0.13636363636363635	236	0.3113456464379947	A	10.03	1.238640	0.22711	0.201527	0.310726	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.09073	3.27;3.27;3.27;3.02;3.27;3.27;3.11	5.27	-0.557	0.11800	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47724	-0.9095	8	0.32370	T	0.25	.	9.0502	0.36372	0.4623:0.0982:0.4395:0.0	rs2973558;rs52798984;rs57008739;rs2973558	467;780;780;780	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	N	780;780;780;780;780;780;467	ENSP00000296794:H780N;ENSP00000441913:H780N;ENSP00000441436:H780N;ENSP00000287898:H780N;ENSP00000411459:H780N;ENSP00000412175:H780N;ENSP00000296799:H467N	ENSP00000287898:H780N	H	+	1	0	RP11-428C6.1	73199721	0.000000	0.05858	0.044000	0.18714	0.936000	0.57629	-0.252000	0.08806	-0.418000	0.07450	-0.539000	0.04255	CAT	C|0.764;A|0.236	0.236	strong		0.502	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73163965	C	A	73163965	3	1	22	1	0	0	0	0	1	0	0	0	13283	594	21	4	2412	4	RGNEF	5	73163965	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	134	73163965	107751295	3013	8121										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73207372	73207372	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcagatacttcctttccaTgaaagcagcaaggattcttg	7	10	2	2	rs1478453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:73207372T>A	ENST00000426542.2	+	34	4940	c.4920T>A	c.(4918-4920)caT>caA	p.H1640Q	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.H1596Q|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.H560Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.H1327Q|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.H1640Q			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1640	Interaction with microtubules. {ECO:0000250}.		H -> Q (in dbSNP:rs1478453). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TTCCTTTCCATGAAAGCAGCA	0.433													C|||	1514	0.302316	0.3775	0.2205	5008	,	,		21416	0.2242		0.4165	False		,,,				2504	0.2219				p.H1640Q		Atlas-SNP	.											.	.	.	.	0			c.T4920A						PASS	.	C	GLN/HIS,GLN/HIS	1490,2658		283,924,867	34	34	34		4920,4920	-1.8	0.2	5	dbSNP_88	34	3351,5079		686,1979,1550	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	24,24	969,2903,2417	AA,AT,TT		39.7509,35.9209,38.4878	benign,benign	1640/1732,1640/1706	73207372	4841,7737	2074	4215	6289	SO:0001583	missense	64283	exon35			TTTCCATGAAAGC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4920T>A	5.37:g.73207372T>A	ENSP00000412175:p.His1640Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	103	54	0.524272	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	693	0.3173076923076923	168	0.34146341463414637	94	0.2596685082872928	119	0.20804195804195805	312	0.41160949868073876	C	0.326	-0.959181	0.02267	0.359209	0.397509	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.28069	3.28;3.29;3.27;3.05;3.29;3.27;3.1;1.63	5.29	-1.84	0.07809	.	1.137660	0.07014	N	0.825584	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B;B	0.12013	0.001;0.001;0.003;0.005;0.003	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.003	T	0.44544	-0.9321	9	0.08599	T	0.76	.	0.8513	0.01173	0.1562:0.3484:0.2187:0.2768	rs1478453;rs17553541;rs52807010;rs57886667;rs1478453	1327;1640;1640;560;1640	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	Q	1640;1640;1640;1596;1640;1640;1327;560	ENSP00000296794:H1640Q;ENSP00000441913:H1640Q;ENSP00000441436:H1640Q;ENSP00000287898:H1596Q;ENSP00000411459:H1640Q;ENSP00000412175:H1640Q;ENSP00000296799:H1327Q;ENSP00000421081:H560Q	ENSP00000287898:H1596Q	H	+	3	2	RP11-428C6.1	73243128	0.000000	0.05858	0.192000	0.23308	0.155000	0.21991	-0.559000	0.05971	-1.238000	0.02535	-1.929000	0.00512	CAT	T|0.663;A|0.337	0.337	strong		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73207372	T	A	73207372	3	1	22	1	0	0	0	0	1	0	0	0	13283	1461	51	5	5054	5	RGNEF	5	73207372	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43407	73207372	107707888	3014	8122										
GFM2	84340	hgsc.bcm.edu	37	chr5	74037369	74037369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaccttttcagctggtaaCaaatcaaaattctcactaaa	3	9	3	0	rs35565659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:74037369C>T	ENST00000296805.3	-	11	1372	c.915G>A	c.(913-915)ttG>ttA	p.L305L	GFM2_ENST00000427854.2_Silent_p.L305L|GFM2_ENST00000509430.1_Silent_p.L305L|GFM2_ENST00000345239.2_Silent_p.L305L	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGCTGGTAACAAATCAAAAT	0.303													C|||	152	0.0303514	0.1097	0.0101	5008	,	,		15822	0.0		0.0	False		,,,				2504	0.0				p.L305L		Atlas-SNP	.											.	GFM2	38	.	0			c.G915A						PASS	.	C	,,	392,4000		12,368,1816	42	44	43		915,915,915	3.1	1	5	dbSNP_126	43	5,8569		0,5,4282	no	coding-synonymous,coding-synonymous,coding-synonymous	GFM2	NM_032380.3,NM_170681.1,NM_170691.1	,,	12,373,6098	TT,TC,CC		0.0583,8.9253,3.0619	,,	305/780,305/514,305/733	74037369	397,12569	2196	4287	6483	SO:0001819	synonymous_variant	84340	exon11			TGGTAACAAATCA	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.915G>A	5.37:g.74037369C>T		Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	247	110	0.445344	NM_032380		Silent	SNP	ENST00000296805.3	37	CCDS4023.1																																																																																			C|0.976;T|0.024	0.024	strong		0.303	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		T	74037369	C	T	74037369	2	4	22	1	0	0	0	0	0	0	0	1	6342	477	17	2		2	GFM2	5	74037369	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	829997	74037369	106877891	3015	8123										
NSA2	10412	hgsc.bcm.edu	37	chr5	74069863	74069863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgaattgggccttgtgacAcaaggaggcaaagttatttg	13	6	0	1	rs6874609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:74069863A>G	ENST00000296802.5	+	5	1062	c.693A>G	c.(691-693)acA>acG	p.T231T		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GCCTTGTGACACAAGGAGGCA	0.378													G|||	1907	0.380791	0.7481	0.3357	5008	,	,		16898	0.2063		0.2416	False		,,,				2504	0.2393				p.T231T		Atlas-SNP	.											NSA2,NS,carcinoma,+1,1	NSA2	18	1	0			c.A693G						PASS	.	G		2961,1445	466.6+/-354.6	1000,961,242	96	92	94		693	-3	1	5	dbSNP_116	94	1912,6688	726.4+/-406.6	204,1504,2592	yes	coding-synonymous	NSA2	NM_014886.3		1204,2465,2834	GG,GA,AA		22.2326,32.7962,37.4673		231/261	74069863	4873,8133	2203	4300	6503	SO:0001819	synonymous_variant	10412	exon5			TGTGACACAAGGA	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.693A>G	5.37:g.74069863A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_014886		Silent	SNP	ENST00000296802.5	37	CCDS4025.1																																																																																			A|0.624;G|0.376	0.376	strong		0.378	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		G	74069863	A	G	74069863	2	3	22	1	0	0	0	0	0	0	0	1	10668	146	6	2		2	NSA2	5	74069863	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	32494	74069863	106845397	3016	8124										
POC5	134359	hgsc.bcm.edu	37	chr5	75001590	75001590	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccaacttctattgcagtTtctcttacttcagagttatt	4	9	3	1	rs77025299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:75001590T>A	ENST00000428202.2	-	4	435	c.246A>T	c.(244-246)gaA>gaT	p.E82D	POC5_ENST00000504862.1_5'UTR|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000510798.1_5'UTR|POC5_ENST00000446329.2_Missense_Mutation_p.E57D|POC5_ENST00000514838.2_Intron	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	82					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTATTGCAGTTTCTCTTACTT	0.284													T|||	295	0.0589058	0.211	0.0202	5008	,	,		16251	0.0		0.002	False		,,,				2504	0.0				p.E82D		Atlas-SNP	.											.	POC5	82	.	0			c.A246T						PASS	.	T	ASP/GLU,ASP/GLU	586,2982		47,492,1245	79	71	74		246,171	2.4	0.4	5	dbSNP_131	74	4,8068		0,4,4032	yes	missense,missense	POC5	NM_001099271.1,NM_152408.2	45,45	47,496,5277	AA,AT,TT		0.0496,16.4238,5.0687	benign,benign	82/576,57/551	75001590	590,11050	1784	4036	5820	SO:0001583	missense	134359	exon4			TGCAGTTTCTCTT	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.246A>T	5.37:g.75001590T>A	ENSP00000410216:p.Glu82Asp	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	55	19	0.345455	NM_001099271	B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	96	0.04395604395604396	88	0.17886178861788618	8	0.022099447513812154	0	0.0	0	0.0	T	7.456	0.643625	0.14451	0.164238	4.96E-4	ENSG00000152359	ENST00000428202;ENST00000446329	T;T	0.25414	1.81;1.8	4.91	2.36	0.29203	.	0.396419	0.27609	N	0.018614	T	0.00039	0.0001	L	0.43701	1.375	0.09310	P	0.9999988642	B;B	0.12630	0.006;0.006	B;B	0.13407	0.009;0.006	T	0.16571	-1.0398	9	0.34782	T	0.22	-13.4474	9.2644	0.37632	0.0:0.0:0.3522:0.6478	.	82;57	Q8NA72;Q8NA72-3	POC5_HUMAN;.	D	82;57	ENSP00000410216:E82D;ENSP00000399481:E57D	ENSP00000410216:E82D	E	-	3	2	POC5	75037346	0.911000	0.30947	0.398000	0.26321	0.137000	0.21094	1.191000	0.32138	0.392000	0.25172	0.528000	0.53228	GAA	T|0.965;A|0.035	0.035	strong		0.284	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		A	75001590	T	A	75001590	3	1	22	1	0	0	0	0	1	0	0	0	12177	1838	64	5	1517	5	POC5	5	75001590	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	931727	75001590	105913670	3017	8125										
F2RL2	2151	hgsc.bcm.edu	37	chr5	75913784	75913784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgaggactcgcaagtgtTgtgaacatcatggcaggtgg	15	6	1	3	rs2069683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:75913784T>C	ENST00000296641.4	-	2	951	c.748A>G	c.(748-750)Aac>Gac	p.N250D	IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.N228D|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	250			N -> D (in dbSNP:rs2069683). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TCGCAAGTGTTGTGAACATCA	0.413													T|||	229	0.0457268	0.0832	0.0317	5008	,	,		21688	0.0813		0.0129	False		,,,				2504	0.002				p.N250D		Atlas-SNP	.											.	F2RL2	57	.	0			c.A748G						PASS	.	T	ASP/ASN,	328,4078	175.1+/-204.6	4,320,1879	76	74	74		748,	2.7	0.1	5	dbSNP_96	74	63,8537	37.8+/-93.5	1,61,4238	yes	missense,intron	F2RL2,IQGAP2	NM_004101.2,NM_006633.2	23,	5,381,6117	CC,CT,TT		0.7326,7.4444,3.0063	benign,	250/375,	75913784	391,12615	2203	4300	6503	SO:0001583	missense	2151	exon2			AAGTGTTGTGAAC	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.748A>G	5.37:g.75913784T>C	ENSP00000296641:p.Asn250Asp	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_004101	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	125	0.05723443223443223	50	0.1016260162601626	7	0.019337016574585635	58	0.10139860139860139	10	0.013192612137203167	T	0.012	-1.648326	0.00785	0.074444	0.007326	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36878	1.23;1.23	5.09	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.483463	0.24748	N	0.035936	T	0.00412	0.0013	N	0.11673	0.155	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.25572	-1.0128	9	0.06236	T	0.91	-7.4832	9.4239	0.38567	0.0:0.2243:0.0:0.7757	rs2069683;rs17748489;rs52831711;rs58834474;rs2069683	250	O00254	PAR3_HUMAN	D	250;228	ENSP00000296641:N250D;ENSP00000426703:N228D	ENSP00000296641:N250D	N	-	1	0	F2RL2	75949540	0.996000	0.38824	0.078000	0.20375	0.415000	0.31203	2.448000	0.44926	0.003000	0.14656	-1.450000	0.01041	AAC	T|0.957;C|0.043	0.043	strong		0.413	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			C	75913784	T	C	75913784	3	2	22	1	0	0	0	0	1	0	0	0	5345	1812	63	2	380	2	F2RL2	5	75913784	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	912194	75913784	105001476	3018	8126										
AP3B1	8546	hgsc.bcm.edu	37	chr5	77412011	77412011	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcagaataaaacttcttAgcagaattctcttgctttgc	6	8	3	2	rs42360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:77412011A>G	ENST00000255194.6	-	18	2191	c.2016T>C	c.(2014-2016)gcT>gcC	p.A672A	AP3B1_ENST00000519295.1_Silent_p.A623A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	672					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAAACTTCTTAGCAGAATTCT	0.338									Hermansky-Pudlak syndrome				A|||	946	0.188898	0.2383	0.3271	5008	,	,		16072	0.0754		0.2127	False		,,,				2504	0.1166				p.A672A		Atlas-SNP	.											AP3B1,NS,carcinoma,0,1	AP3B1	94	1	0			c.T2016C						PASS	.	A		1135,3271	401.5+/-332.0	163,809,1231	87	91	89		2016	3.6	0.8	5	dbSNP_76	89	2013,6587	351.2+/-328.2	249,1515,2536	no	coding-synonymous	AP3B1	NM_003664.3		412,2324,3767	GG,GA,AA		23.407,25.7603,24.2042		672/1095	77412011	3148,9858	2203	4300	6503	SO:0001819	synonymous_variant	8546	exon18	Familial Cancer Database	HPS, HPS1-8	CTTCTTAGCAGAA	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2016T>C	5.37:g.77412011A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	82	32	0.390244	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	CCDS4041.1																																																																																			A|0.776;C|0.001	.	strong		0.338	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			G	77412011	A	G	77412011	2	3	22	1	0	0	0	0	0	0	0	1	744	407	15	3		3	AP3B1	5	77412011	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1498227	77412011	103503249	3019	8127										
LHFPL2	10184	hgsc.bcm.edu	37	chr5	77784810	77784810	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcttgtgcagagaagacAgcacagatgaaagtgaggac	13	7	1	5	rs35110604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:77784810A>C	ENST00000515007.2	-	3	907	c.597T>G	c.(595-597)gcT>gcG	p.A199A	LHFPL2_ENST00000380345.2_Silent_p.A199A			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	199						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CAGAGAAGACAGCACAGATGA	0.473													A|||	116	0.0231629	0.0825	0.0101	5008	,	,		21336	0.0		0.0	False		,,,				2504	0.0				p.A199A		Atlas-SNP	.											.	LHFPL2	9	.	0			c.T597G						PASS	.	A		282,4124	157.4+/-190.3	7,268,1928	134	131	132		597	-4.5	1	5	dbSNP_126	132	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	LHFPL2	NM_005779.2		7,271,6225	CC,CA,AA		0.0349,6.4004,2.1913		199/229	77784810	285,12721	2203	4300	6503	SO:0001819	synonymous_variant	10184	exon5			GAAGACAGCACAG	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.597T>G	5.37:g.77784810A>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	167	83	0.497006	NM_005779	B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	CCDS4042.1																																																																																			A|0.982;C|0.018	0.018	strong		0.473	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		C	77784810	A	C	77784810	2	2	22	1	0	0	0	0	0	0	0	1	8765	175	7	5		5	LHFPL2	5	77784810	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	372799	77784810	103130450	3020	8128										
DMGDH	29958	hgsc.bcm.edu	37	chr5	78326750	78326750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgataggtcagttaccGctactctttgcataacctgt	9	9	2	1	rs1805073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78326750G>C	ENST00000255189.3	-	10	1617	c.1589C>G	c.(1588-1590)gCg>gGg	p.A530G	DMGDH_ENST00000380311.4_Missense_Mutation_p.A329G|DMGDH_ENST00000540686.1_Missense_Mutation_p.A150G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	530			A -> G (in dbSNP:rs1805073). {ECO:0000269|PubMed:11231903}.		amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTCAGTTACCGCTACTCTTTG	0.418													C|||	1532	0.305911	0.4985	0.1974	5008	,	,		16959	0.1399		0.2962	False		,,,				2504	0.3037				p.A530G		Atlas-SNP	.											DMGDH,colon,adenoma,+1,1	DMGDH	88	1	0			c.C1589G						PASS	.	C	GLY/ALA	2049,2357	608.8+/-391.2	469,1111,623	132	123	126		1589	5.9	1	5	dbSNP_89	126	2467,6133	696.2+/-404.9	378,1711,2211	yes	missense	DMGDH	NM_013391.2	60	847,2822,2834	CC,CG,GG		28.686,46.5048,34.7224	benign	530/867	78326750	4516,8490	2203	4300	6503	SO:0001583	missense	29958	exon10			GTTACCGCTACTC	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1589C>G	5.37:g.78326750G>C	ENSP00000255189:p.Ala530Gly	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	105	53	0.504762	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	651	0.2980769230769231	266	0.540650406504065	72	0.19889502762430938	90	0.15734265734265734	223	0.2941952506596306	C	8.492	0.862213	0.17178	0.465048	0.28686	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.86	5.86	0.93980	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00808	-1.17	0.39246	P	0.03604700000000005	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.35649	-0.9780	9	0.02654	T	1	.	17.248	0.87033	0.0:0.8743:0.1257:0.0	rs1805073;rs52829837;rs59861506;rs1805073	150;329;380;530	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	G	530;369;329;150;380	ENSP00000255189:A530G;ENSP00000430972:A369G;ENSP00000369667:A329G;ENSP00000439478:A150G	ENSP00000255189:A530G	A	-	2	0	DMGDH	78362506	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	6.012000	0.70767	1.498000	0.48600	-0.215000	0.12644	GCG	G|0.677;C|0.323	0.323	strong		0.418	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		C	78326750	G	C	78326750	3	2	22	1	0	0	0	0	1	0	0	0	4581	1087	38	4	1039	4	DMGDH	5	78326750	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	541940	78326750	102588510	3021	8129										
DMGDH	29958	hgsc.bcm.edu	37	chr5	78328560	78328560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagtgcggctgctcccaGccagcatggaaccccatgga	11	15	0	0	rs1805072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78328560G>A	ENST00000255189.3	-	9	1495	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	DMGDH_ENST00000380311.4_Silent_p.G288G|DMGDH_ENST00000540686.1_Silent_p.G109G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	489					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCTGCTCCCAGCCAGCATGGA	0.542													G|||	995	0.198682	0.2398	0.134	5008	,	,		17116	0.1399		0.1988	False		,,,				2504	0.2495				p.G489G		Atlas-SNP	.											.	DMGDH	88	.	0			c.C1467T						PASS	.	G		1005,3401	374.6+/-321.3	101,803,1299	127	129	129		1467	4.6	1	5	dbSNP_89	129	1621,6979	300.8+/-305.1	162,1297,2841	no	coding-synonymous	DMGDH	NM_013391.2		263,2100,4140	AA,AG,GG		18.8488,22.8098,20.1907		489/867	78328560	2626,10380	2203	4300	6503	SO:0001819	synonymous_variant	29958	exon9			CTCCCAGCCAGCA	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1467C>T	5.37:g.78328560G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_013391	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																			G|0.796;A|0.204	0.204	strong		0.542	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		A	78328560	G	A	78328560	2	1	22	1	0	0	0	0	0	0	0	1	4581	958	34	2		2	DMGDH	5	78328560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1810	78328560	102586700	3022	8130										
BHMT	635	hgsc.bcm.edu	37	chr5	78421959	78421959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggcttggaggctgcccGactgaaagctcacctgatga	15	10	1	3	rs3733890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78421959G>A	ENST00000274353.5	+	6	823	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.R86Q	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	239	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.		R -> Q (may decrease risk for coronary artery disease; dbSNP:rs3733890). {ECO:0000269|PubMed:12818402, ECO:0000269|PubMed:8798461}.		amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGGCTGCCCGACTGAAAGCT	0.512													G|||	1456	0.290735	0.2035	0.3775	5008	,	,		18501	0.3155		0.3231	False		,,,				2504	0.2883				p.R239Q		Atlas-SNP	.											.	BHMT	53	.	0			c.G716A	GRCh37	CM031139	BHMT	M	rs3733890	PASS	.	G	GLN/ARG	980,3426	368.6+/-318.7	121,738,1344	106	95	99		716	3.5	0	5	dbSNP_107	99	2584,6016	419.9+/-353.2	399,1786,2115	yes	missense	BHMT	NM_001713.2	43	520,2524,3459	AA,AG,GG		30.0465,22.2424,27.4027	benign	239/407	78421959	3564,9442	2203	4300	6503	SO:0001583	missense	635	exon6			CTGCCCGACTGAA	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.716G>A	5.37:g.78421959G>A	ENSP00000274353:p.Arg239Gln	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	219	118	0.538813	NM_001713	Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	658	0.30128205128205127	125	0.2540650406504065	125	0.3453038674033149	173	0.30244755244755245	235	0.3100263852242744	G	14.36	2.512207	0.44660	0.222424	0.300465	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.29397	1.57;1.57	5.66	3.51	0.40186	Homocysteine S-methyltransferase (4);	0.536255	0.21754	N	0.069629	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;B	0.42456	0.78;0.0	B;B	0.25884	0.064;0.001	T	0.43893	-0.9363	9	0.28530	T	0.3	-3.8727	4.6612	0.12643	0.4122:0.0:0.5878:0.0	rs3733890;rs52838192;rs59208899;rs3733890	86;239	E5RJH0;Q93088	.;BHMT1_HUMAN	Q	239;86;86	ENSP00000274353:R239Q;ENSP00000428240:R86Q	ENSP00000274353:R239Q	R	+	2	0	BHMT	78457715	0.083000	0.21467	0.004000	0.12327	0.749000	0.42624	2.821000	0.48065	1.533000	0.49186	0.655000	0.94253	CGA	G|0.715;A|0.285	0.285	strong		0.512	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		A	78421959	G	A	78421959	3	1	22	1	0	0	0	0	1	0	0	0	1425	1058	37	1	738	1	BHMT	5	78421959	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93399	78421959	102493301	3023	8131										
JMY	133746	hgsc.bcm.edu	37	chr5	78573790	78573790	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttctggacttgtatcagAtggaggatgaagcctacagc	12	8	2	2	rs13182512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78573790A>T	ENST00000396137.4	+	2	1552	c.1090A>T	c.(1090-1092)Atg>Ttg	p.M364L		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	364			M -> L (in dbSNP:rs13182512). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.		'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTGTATCAGATGGAGGATGA	0.438													A|||	2407	0.480631	0.3646	0.5562	5008	,	,		17393	0.4851		0.6243	False		,,,				2504	0.4315				p.M364L		Atlas-SNP	.											.	JMY	82	.	0			c.A1090T						PASS	.	A	LEU/MET	1539,2297		328,883,707	110	106	108		1090	-4.7	1	5	dbSNP_121	108	5085,3163		1584,1917,623	yes	missense	JMY	NM_152405.4	15	1912,2800,1330	TT,TA,AA		38.3487,40.1199,45.1837	benign	364/989	78573790	6624,5460	1918	4124	6042	SO:0001583	missense	133746	exon2			TATCAGATGGAGG	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1090A>T	5.37:g.78573790A>T	ENSP00000379441:p.Met364Leu	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_152405	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	1138	0.5210622710622711	207	0.42073170731707316	191	0.5276243093922652	265	0.4632867132867133	475	0.6266490765171504	A	3.901	-0.022008	0.07634	0.401199	0.616513	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07021	3.23	5.37	-4.71	0.03279	.	0.357771	0.31709	N	0.007197	T	0.00012	0.0000	L	0.36672	1.1	0.37339	P	0.08970500000000003	B	0.06786	0.001	B	0.06405	0.002	T	0.38373	-0.9664	9	0.32370	T	0.25	.	5.5033	0.16840	0.2347:0.5041:0.0633:0.1979	rs13182512;rs52808458;rs58775933;rs13182512	364	Q8N9B5	JMY_HUMAN	L	364	ENSP00000379441:M364L	ENSP00000282259:M364L	M	+	1	0	JMY	78609546	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	1.365000	0.34182	-0.624000	0.05611	-1.251000	0.01509	ATG	A|0.466;T|0.534	0.534	strong		0.438	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		T	78573790	A	T	78573790	3	4	22	1	0	0	0	0	1	0	0	0	7957	333	12	5	1096	5	JMY	5	78573790	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	151831	78573790	102341470	3024	8132										
JMY	133746	hgsc.bcm.edu	37	chr5	78596044	78596044	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagaagctgattattatgaTctgcaacttcagttgtatga	8	5	2	4	rs10514159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78596044T>C	ENST00000396137.4	+	5	2058	c.1596T>C	c.(1594-1596)gaT>gaC	p.D532D		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	532	Interaction with p300/EP300. {ECO:0000250}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATTATTATGATCTGCAACTTC	0.358													C|||	3404	0.679712	0.9372	0.585	5008	,	,		15309	0.6319		0.6163	False		,,,				2504	0.5133				p.D532D		Atlas-SNP	.											JMY_ENST00000396137,NS,carcinoma,+2,4	JMY	82	4	0			c.T1596C						PASS	.	C		3335,435		1474,387,24	120	115	117		1596	-1.4	1	5	dbSNP_119	117	5067,3195		1574,1919,638	no	coding-synonymous	JMY	NM_152405.4		3048,2306,662	CC,CT,TT		38.671,11.5385,30.1695		532/989	78596044	8402,3630	1885	4131	6016	SO:0001819	synonymous_variant	133746	exon5			TTATGATCTGCAA	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1596T>C	5.37:g.78596044T>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	76	75	0.986842	NM_152405	A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	CCDS4047.3																																																																																			T|0.348;C|0.652	0.652	strong		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		C	78596044	T	C	78596044	2	2	22	1	0	0	0	0	0	0	0	1	7957	1432	50	2		2	JMY	5	78596044	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22254	78596044	102319216	3025	8133										
JMY	133746	hgsc.bcm.edu	37	chr5	78610174	78610174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgttctccaagaggatcAttgtgactctttaccaagtg	8	10	3	2	rs16876657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:78610174A>G	ENST00000396137.4	+	9	2621	c.2159A>G	c.(2158-2160)cAt>cGt	p.H720R	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	720			H -> R (in dbSNP:rs16876657).		'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CAAGAGGATCATTGTGACTCT	0.453													A|||	389	0.0776757	0.1725	0.0159	5008	,	,		14532	0.0863		0.0169	False		,,,				2504	0.047				p.H720R		Atlas-SNP	.											.	JMY	82	.	0			c.A2159G						PASS	.	A	ARG/HIS	567,3465		34,499,1483	77	79	78		2159	0.7	0	5	dbSNP_123	78	108,8300		0,108,4096	yes	missense	JMY	NM_152405.4	29	34,607,5579	GG,GA,AA		1.2845,14.0625,5.426	benign	720/989	78610174	675,11765	2016	4204	6220	SO:0001583	missense	133746	exon9			AGGATCATTGTGA	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2159A>G	5.37:g.78610174A>G	ENSP00000379441:p.His720Arg	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	120	54	0.45	NM_152405	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	156	0.07142857142857142	71	0.1443089430894309	6	0.016574585635359115	66	0.11538461538461539	13	0.017150395778364115	A	1.854	-0.464379	0.04476	0.140625	0.012845	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.73152	-0.72	4.57	0.684	0.18003	.	0.879298	0.09693	N	0.768068	T	0.00328	0.0010	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06516	-1.0822	9	0.15499	T	0.54	.	6.7725	0.23601	0.6326:0.2899:0.0775:0.0	rs16876657;rs52832545;rs16876657	720	Q8N9B5	JMY_HUMAN	R	720	ENSP00000379441:H720R	ENSP00000282259:H720R	H	+	2	0	JMY	78645930	0.141000	0.22595	0.021000	0.16686	0.344000	0.29017	1.567000	0.36407	0.121000	0.18284	0.477000	0.44152	CAT	A|0.926;G|0.074	0.074	strong		0.453	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		G	78610174	A	G	78610174	3	3	22	1	0	0	0	0	1	0	0	0	7957	217	8	2	2193	2	JMY	5	78610174	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14130	78610174	102305086	3026	8134										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79024779	79024779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaaagatcaagcaggagtAtatcatatctgacccctcct	9	10	3	2	rs16877109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79024779A>G	ENST00000446378.2	+	2	222	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	64			Y -> C (in dbSNP:rs16877109).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCAGGAGTATATCATATCT	0.353													G|||	1389	0.277356	0.5961	0.085	5008	,	,		14505	0.3621		0.0815	False		,,,				2504	0.0971				p.Y64C		Atlas-SNP	.											.	CMYA5	643	.	0			c.A191G						PASS	.	G	CYS/TYR	1907,1791		493,921,435	108	101	103		191	5.7	1	5	dbSNP_123	103	710,7492		39,632,3430	yes	missense	CMYA5	NM_153610.3	194	532,1553,3865	GG,GA,AA		8.6564,48.4316,21.9916	benign	64/4070	79024779	2617,9283	1849	4101	5950	SO:0001583	missense	202333	exon2			AGGAGTATATCAT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.191A>G	5.37:g.79024779A>G	ENSP00000394770:p.Tyr64Cys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	628	0.2875457875457875	306	0.6219512195121951	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	G	2.421	-0.333065	0.05278	0.515684	0.086564	ENSG00000164309	ENST00000446378	T	0.21361	2.01	5.7	5.7	0.88788	.	0.000000	0.53938	N	0.000054	T	0.00012	0.0000	N	0.00926	-1.1	0.42356	P	0.007600999999999969	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	10.3643	0.44015	0.1642:0.0:0.8358:0.0	rs16877109;rs16877109	64	Q8N3K9	CMYA5_HUMAN	C	64	ENSP00000394770:Y64C	ENSP00000394770:Y64C	Y	+	2	0	CMYA5	79060535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.366000	0.66122	1.415000	0.47037	-0.119000	0.15052	TAT	A|0.702;G|0.298	0.298	strong		0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79024779	A	G	79024779	3	3	22	1	0	0	0	0	1	0	0	0	3590	449	16	2	197	2	CMYA5	5	79024779	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	414605	79024779	101890481	3027	8135			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79024915	79024915	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttctggtgtgtgtagtcgGgaagggtcaactgtgaattc	14	6	2	1	rs16877111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79024915G>C	ENST00000446378.2	+	2	358	c.327G>C	c.(325-327)cgG>cgC	p.R109R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	109					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGTAGTCGGGAAGGGTCAA	0.433													G|||	692	0.138179	0.4758	0.0447	5008	,	,		14105	0.0		0.0219	False		,,,				2504	0.0102				p.R109R		Atlas-SNP	.											.	CMYA5	643	.	0			c.G327C						PASS	.	G		1475,2247		298,879,684	245	243	243		327	-1	0.1	5	dbSNP_123	243	172,8018		2,168,3925	no	coding-synonymous	CMYA5	NM_153610.3		300,1047,4609	CC,CG,GG		2.1001,39.6292,13.8264		109/4070	79024915	1647,10265	1861	4095	5956	SO:0001819	synonymous_variant	202333	exon2			TAGTCGGGAAGGG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.327G>C	5.37:g.79024915G>C		Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																			G|0.893;C|0.107	0.107	strong		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79024915	G	C	79024915	2	2	22	1	0	0	0	0	0	0	0	1	3590	1219	43	4		4	CMYA5	5	79024915	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136	79024915	101890345	3028	8136			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79025317	79025317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaattaattcctctacaAttttatggaacattgccaaa	5	7	1	1	rs1366270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79025317A>G	ENST00000446378.2	+	2	760	c.729A>G	c.(727-729)caA>caG	p.Q243Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	243					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCCTCTACAATTTTATGGAA	0.318													A|||	1389	0.277356	0.5961	0.085	5008	,	,		18869	0.3621		0.0815	False		,,,				2504	0.0971				p.Q243Q		Atlas-SNP	.											.	CMYA5	643	.	0			c.A729G						PASS	.	A		1856,1772		487,882,445	42	42	42		729	-4.5	0.6	5	dbSNP_88	42	710,7430		39,632,3399	no	coding-synonymous	CMYA5	NM_153610.3		526,1514,3844	GG,GA,AA		8.7224,48.8423,21.8049		243/4070	79025317	2566,9202	1814	4070	5884	SO:0001819	synonymous_variant	202333	exon2			TCTACAATTTTAT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.729A>G	5.37:g.79025317A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																			A|0.700;G|0.300	0.300	strong		0.318	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79025317	A	G	79025317	2	3	22	1	0	0	0	0	0	0	0	1	3590	98	4	2		2	CMYA5	5	79025317	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	402	79025317	101889943	3029	8137			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79025634	79025634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctcttattcaagtagtgGcagagcagaacaaggaatac	9	9	2	2	rs1366271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79025634G>A	ENST00000446378.2	+	2	1077	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	349			G -> D (in dbSNP:rs1366271).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAAGTAGTGGCAGAGCAGAA	0.433													A|||	1175	0.234625	0.441	0.072	5008	,	,		21209	0.3621		0.0815	False		,,,				2504	0.0971				p.G349D		Atlas-SNP	.											.	CMYA5	643	.	0			c.G1046A						PASS	.	A	ASP/GLY	1546,2600		300,946,827	70	67	68		1046	2.8	0.2	5	dbSNP_88	68	725,7709		40,645,3532	yes	missense	CMYA5	NM_153610.3	94	340,1591,4359	AA,AG,GG		8.5962,37.289,18.0525	benign	349/4070	79025634	2271,10309	2073	4217	6290	SO:0001583	missense	202333	exon2			GTAGTGGCAGAGC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1046G>A	5.37:g.79025634G>A	ENSP00000394770:p.Gly349Asp	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	215	215	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	535	0.24496336996336995	218	0.44308943089430897	26	0.0718232044198895	232	0.40559440559440557	59	0.07783641160949868	A	1.948	-0.442042	0.04604	0.37289	0.085962	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.34	2.82	0.32997	.	1.606740	0.03686	N	0.246341	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42068	-0.9473	9	0.02654	T	1	.	5.9887	0.19448	0.5997:0.3163:0.084:0.0	rs1366271;rs60907015;rs1366271	349	Q8N3K9	CMYA5_HUMAN	D	349	ENSP00000394770:G349D	ENSP00000394770:G349D	G	+	2	0	CMYA5	79061390	0.000000	0.05858	0.156000	0.22583	0.307000	0.27823	0.303000	0.19210	0.060000	0.16281	-0.269000	0.10298	GGC	G|0.742;A|0.258	0.258	strong		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79025634	G	A	79025634	3	1	22	1	0	0	0	0	1	0	0	0	3590	1203	42	2	1052	2	CMYA5	5	79025634	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	317	79025634	101889626	3030	8138			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79026360	79026360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgcatctgtttctactgGttctgcttttgtatcagagt	8	7	4	1	rs16877124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79026360G>A	ENST00000446378.2	+	2	1803	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	591	Glu-rich.		G -> D (in dbSNP:rs16877124).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.G591D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTTCTACTGGTTCTGCTTTT	0.408													A|||	1364	0.272364	0.5787	0.0821	5008	,	,		21788	0.3621		0.0815	False		,,,				2504	0.0971				p.G591D		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.G1772A						PASS	.	A	ASP/GLY	1864,1958		458,948,505	238	234	235		1772	5.8	1	5	dbSNP_123	235	710,7574		39,632,3471	yes	missense	CMYA5	NM_153610.3	94	497,1580,3976	AA,AG,GG		8.5707,48.7703,21.2622	benign	591/4070	79026360	2574,9532	1911	4142	6053	SO:0001583	missense	202333	exon2			CTACTGGTTCTGC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1772G>A	5.37:g.79026360G>A	ENSP00000394770:p.Gly591Asp	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	176	176	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	622	0.2847985347985348	301	0.6117886178861789	30	0.08287292817679558	232	0.40559440559440557	59	0.07783641160949868	A	3.649	-0.071966	0.07228	0.487703	0.085707	ENSG00000164309	ENST00000446378	T	0.20463	2.07	5.8	5.8	0.92144	.	0.263939	0.27284	N	0.020071	T	0.00012	0.0000	N	0.00926	-1.1	0.47214	P	6.439999999999779E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	9	0.02654	T	1	.	8.4593	0.32919	0.8479:0.0:0.1521:0.0	rs16877124;rs16877124	591	Q8N3K9	CMYA5_HUMAN	D	591	ENSP00000394770:G591D	ENSP00000394770:G591D	G	+	2	0	CMYA5	79062116	0.985000	0.35326	0.995000	0.50966	0.933000	0.57130	1.390000	0.34464	1.039000	0.40074	-0.360000	0.07572	GGT	G|0.704;A|0.296	0.296	strong		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79026360	G	A	79026360	3	1	22	1	0	0	0	0	1	0	0	0	3590	1261	44	2	1778	2	CMYA5	5	79026360	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	726	79026360	101888900	3031	8139			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79026539	79026539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagcccctacatctgagAgctctctctcaccatccaca	5	18	3	1	rs57544556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79026539A>C	ENST00000446378.2	+	2	1982	c.1951A>C	c.(1951-1953)Agc>Cgc	p.S651R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	651			S -> R (in dbSNP:rs57544556).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S651R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACATCTGAGAGCTCTCTCTC	0.468													C|||	1357	0.270966	0.5734	0.0821	5008	,	,		20577	0.3621		0.0815	False		,,,				2504	0.0971				p.S651R		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.A1951C						PASS	.	C	ARG/SER	1850,2030		449,952,539	58	58	58		1951	0.2	0	5	dbSNP_129	58	716,7564		40,636,3464	yes	missense	CMYA5	NM_153610.3	110	489,1588,4003	CC,CA,AA		8.6473,47.6804,21.102	benign	651/4070	79026539	2566,9594	1940	4140	6080	SO:0001583	missense	202333	exon2			TCTGAGAGCTCTC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1951A>C	5.37:g.79026539A>C	ENSP00000394770:p.Ser651Arg	Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	187	186	0.994652	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	621	0.28434065934065933	300	0.6097560975609756	30	0.08287292817679558	232	0.40559440559440557	59	0.07783641160949868	C	1.268	-0.613993	0.03690	0.476804	0.086473	ENSG00000164309	ENST00000446378	T	0.36878	1.23	5.52	0.216	0.15258	.	1.487380	0.04113	N	0.315010	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44375	-0.9332	9	0.33940	T	0.23	.	2.5551	0.04758	0.3556:0.3891:0.1156:0.1397	rs57544556;rs62621916	651	Q8N3K9	CMYA5_HUMAN	R	651	ENSP00000394770:S651R	ENSP00000394770:S651R	S	+	1	0	CMYA5	79062295	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-1.852000	0.01667	0.043000	0.15746	-0.770000	0.03390	AGC	A|0.757;C|0.243	0.243	strong		0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79026539	A	C	79026539	3	2	22	1	0	0	0	0	1	0	0	0	3590	304	11	5	1957	5	CMYA5	5	79026539	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	179	79026539	101888721	3032	8140			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79027605	79027605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagactcagcatcacaagTttcaatccctccctttagaa	4	14	3	2	rs6893869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79027605T>C	ENST00000446378.2	+	2	3048	c.3017T>C	c.(3016-3018)gTt>gCt	p.V1006A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1006			V -> A (in dbSNP:rs6893869).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.V1006A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCATCACAAGTTTCAATCCCT	0.403													T|||	1372	0.273962	0.5832	0.085	5008	,	,		21484	0.3621		0.0815	False		,,,				2504	0.0971				p.V1006A		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.T3017C						PASS	.	T	ALA/VAL	1907,1939		472,963,488	73	69	70		3017	3.3	1	5	dbSNP_116	70	717,7529		39,639,3445	yes	missense	CMYA5	NM_153610.3	64	511,1602,3933	CC,CT,TT		8.6951,49.584,21.7003	benign	1006/4070	79027605	2624,9468	1923	4123	6046	SO:0001583	missense	202333	exon2			CACAAGTTTCAAT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3017T>C	5.37:g.79027605T>C	ENSP00000394770:p.Val1006Ala	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	172	172	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	625	0.28617216117216115	303	0.6158536585365854	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	T	9.347	1.064534	0.20067	0.49584	0.086951	ENSG00000164309	ENST00000446378	T	0.60548	0.18	5.88	3.3	0.37823	.	0.864592	0.09833	N	0.749968	T	0.00012	0.0000	N	0.21583	0.68	0.80722	P	0.0	B	0.29188	0.236	B	0.20767	0.031	T	0.47114	-0.9142	9	0.02654	T	1	.	2.6076	0.04882	0.1434:0.0877:0.1488:0.6201	rs6893869;rs61614640;rs6893869	1006	Q8N3K9	CMYA5_HUMAN	A	1006	ENSP00000394770:V1006A	ENSP00000394770:V1006A	V	+	2	0	CMYA5	79063361	0.001000	0.12720	0.999000	0.59377	0.938000	0.57974	0.769000	0.26604	1.005000	0.39183	0.460000	0.39030	GTT	T|0.702;C|0.298	0.298	strong		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79027605	T	C	79027605	3	2	22	1	0	0	0	0	1	0	0	0	3590	1725	60	2	3023	2	CMYA5	5	79027605	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1066	79027605	101887655	3033	8141			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79029288	79029288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcaaagatgaggaaacagCaagttcatctcctgagttgg	12	7	2	3	rs1428223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79029288C>A	ENST00000446378.2	+	2	4731	c.4700C>A	c.(4699-4701)gCa>gAa	p.A1567E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1567			A -> E (in dbSNP:rs1428223).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A1567E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGGAAACAGCAAGTTCATCT	0.413													C|||	1383	0.276158	0.5915	0.085	5008	,	,		22494	0.3621		0.0815	False		,,,				2504	0.0971				p.A1567E		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.C4700A						PASS	.	C	GLU/ALA	1891,1921		479,933,494	114	117	116		4700	0.7	0	5	dbSNP_88	116	713,7539		39,635,3452	yes	missense	CMYA5	NM_153610.3	107	518,1568,3946	AA,AC,CC		8.6403,49.6065,21.5849	benign	1567/4070	79029288	2604,9460	1906	4126	6032	SO:0001583	missense	202333	exon2			AAACAGCAAGTTC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4700C>A	5.37:g.79029288C>A	ENSP00000394770:p.Ala1567Glu	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	626	0.2866300366300366	304	0.6178861788617886	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	C	12.67	2.006665	0.35415	0.496065	0.086403	ENSG00000164309	ENST00000446378	T	0.04015	3.73	5.93	0.655	0.17839	.	0.773350	0.11773	N	0.530922	T	0.00012	0.0000	N	0.25890	0.77	0.80722	P	0.0	B	0.15473	0.013	B	0.14023	0.01	T	0.21348	-1.0248	9	0.13470	T	0.59	.	3.6245	0.08108	0.4691:0.319:0.1289:0.0831	rs1428223;rs16877137;rs59656657	1567	Q8N3K9	CMYA5_HUMAN	E	1567	ENSP00000394770:A1567E	ENSP00000394770:A1567E	A	+	2	0	CMYA5	79065044	0.000000	0.05858	0.023000	0.16930	0.085000	0.17905	-0.731000	0.04909	0.381000	0.24851	0.655000	0.94253	GCA	C|0.752;A|0.248	0.248	strong		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79029288	C	A	79029288	3	1	22	1	0	0	0	0	1	0	0	0	3590	710	25	4	4706	4	CMYA5	5	79029288	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1683	79029288	101885972	3034	8142			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79029383	79029383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaccggcagtggaggtaTcttctacagctcagggagac	12	10	3	1	rs1428224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79029383T>G	ENST00000446378.2	+	2	4826	c.4795T>G	c.(4795-4797)Tct>Gct	p.S1599A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1599			S -> A (in dbSNP:rs1428224).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTGGAGGTATCTTCTACAGC	0.453													T|||	1383	0.276158	0.5915	0.085	5008	,	,		19423	0.3621		0.0815	False		,,,				2504	0.0971				p.S1599A		Atlas-SNP	.											.	CMYA5	643	.	0			c.T4795G						PASS	.	T	ALA/SER	1895,1867		479,937,465	121	122	121		4795	-2.7	0	5	dbSNP_88	121	714,7522		39,636,3443	yes	missense	CMYA5	NM_153610.3	99	518,1573,3908	GG,GT,TT		8.6693,49.6279,21.7453	possibly-damaging	1599/4070	79029383	2609,9389	1881	4118	5999	SO:0001583	missense	202333	exon2			GAGGTATCTTCTA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4795T>G	5.37:g.79029383T>G	ENSP00000394770:p.Ser1599Ala	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	626	0.2866300366300366	304	0.6178861788617886	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	T	12.08	1.829387	0.32329	0.503721	0.086693	ENSG00000164309	ENST00000446378	T	0.06371	3.31	4.78	-2.73	0.05950	.	0.990258	0.08208	N	0.981160	T	0.00012	0.0000	L	0.47190	1.495	0.80722	P	0.0	B	0.14438	0.01	B	0.12156	0.007	T	0.47249	-0.9132	9	0.06891	T	0.86	.	0.0836	0.00034	0.3081:0.2046:0.1595:0.3278	rs1428224;rs16877138;rs59088137;rs1428224	1599	Q8N3K9	CMYA5_HUMAN	A	1599	ENSP00000394770:S1599A	ENSP00000394770:S1599A	S	+	1	0	CMYA5	79065139	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.102000	0.10956	-0.059000	0.13154	-0.316000	0.08728	TCT	T|0.702;G|0.298	0.298	strong		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79029383	T	G	79029383	3	3	22	1	0	0	0	0	1	0	0	0	3590	1435	50	5	4801	5	CMYA5	5	79029383	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95	79029383	101885877	3035	8143			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79029749	79029749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctttctctcccaagatcAtcagcctagagtcgaaagaa	6	12	3	3	rs1428225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79029749A>G	ENST00000446378.2	+	2	5192	c.5161A>G	c.(5161-5163)Atc>Gtc	p.I1721V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1721			I -> V (in dbSNP:rs1428225).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I1721V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCCAAGATCATCAGCCTAGA	0.418													G|||	1389	0.277356	0.5961	0.085	5008	,	,		18104	0.3621		0.0815	False		,,,				2504	0.0971				p.I1721V		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.A5161G						scavenged	.	G	VAL/ILE	1877,1849		487,903,473	50	52	52		5161	2.8	0	5	dbSNP_88	52	707,7475		39,629,3423	yes	missense	CMYA5	NM_153610.3	29	526,1532,3896	GG,GA,AA		8.6409,49.6243,21.6997	benign	1721/4070	79029749	2584,9324	1863	4091	5954	SO:0001583	missense	202333	exon2			AAGATCATCAGCC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5161A>G	5.37:g.79029749A>G	ENSP00000394770:p.Ile1721Val	Somatic	56	1	0.0178571		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	627	0.28708791208791207	305	0.6199186991869918	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	G	0.001	-3.170670	0.00027	0.503757	0.086409	ENSG00000164309	ENST00000446378	T	0.37752	1.18	3.64	2.77	0.32553	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47086	-0.9144	8	0.02654	T	1	.	4.7036	0.12839	0.1166:0.0:0.6708:0.2126	rs1428225;rs16877145;rs57809833	1721	Q8N3K9	CMYA5_HUMAN	V	1721	ENSP00000394770:I1721V	ENSP00000394770:I1721V	I	+	1	0	CMYA5	79065505	0.005000	0.15991	0.009000	0.14445	0.001000	0.01503	0.467000	0.22035	0.110000	0.17919	-0.913000	0.02753	ATC	A|0.752;G|0.248	0.248	strong		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79029749	A	G	79029749	3	3	22	1	0	0	0	0	1	0	0	0	3590	217	8	2	5167	2	CMYA5	5	79029749	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	366	79029749	101885511	3036	8144			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79031372	79031372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctggtgacggtcaaaacGttaaagaaaaatccatgatt	8	6	2	3	rs6859595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79031372G>C	ENST00000446378.2	+	2	6815	c.6784G>C	c.(6784-6786)Gtt>Ctt	p.V2262L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2262			V -> L (in dbSNP:rs6859595). {ECO:0000269|PubMed:15489334}.		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CGGTCAAAACGTTAAAGAAAA	0.343													G|||	1359	0.271366	0.5749	0.0821	5008	,	,		20192	0.3621		0.0815	False		,,,				2504	0.0971				p.V2262L		Atlas-SNP	.											.	CMYA5	643	.	0			c.G6784C						PASS	.	G	LEU/VAL	1758,1834		439,880,477	68	71	70		6784	-1.3	0.9	5	dbSNP_116	70	697,7435		40,617,3409	yes	missense	CMYA5	NM_153610.3	32	479,1497,3886	CC,CG,GG		8.5711,48.9421,20.94	benign	2262/4070	79031372	2455,9269	1796	4066	5862	SO:0001583	missense	202333	exon2			CAAAACGTTAAAG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6784G>C	5.37:g.79031372G>C	ENSP00000394770:p.Val2262Leu	Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	122	121	0.991803	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	620	0.2838827838827839	299	0.6077235772357723	30	0.08287292817679558	232	0.40559440559440557	59	0.07783641160949868	G	0.005	-2.236224	0.00277	0.489421	0.085711	ENSG00000164309	ENST00000446378	T	0.15017	2.46	5.74	-1.29	0.09288	.	0.951459	0.08743	N	0.900308	T	0.00012	0.0000	N	0.11427	0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	9	0.02654	T	1	.	1.4302	0.02332	0.1568:0.2929:0.3491:0.2012	rs6859595;rs17846621;rs17859711;rs57126049;rs6859595	2262	Q8N3K9	CMYA5_HUMAN	L	2262	ENSP00000394770:V2262L	ENSP00000394770:V2262L	V	+	1	0	CMYA5	79067128	0.002000	0.14202	0.943000	0.38184	0.004000	0.04260	-0.194000	0.09559	0.147000	0.19030	-1.149000	0.01842	GTT	G|0.737;C|0.263	0.263	strong		0.343	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79031372	G	C	79031372	3	2	22	1	0	0	0	0	1	0	0	0	3590	1145	40	4	6790	4	CMYA5	5	79031372	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1623	79031372	101883888	3037	8145			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79032562	79032562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcaggaaggaaatctagtAttagaaaagtcaagcagaga	10	5	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79032562A>G	ENST00000446378.2	+	2	8005	c.7974A>G	c.(7972-7974)gtA>gtG	p.V2658V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2658					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATCTAGTATTAGAAAAGT	0.408																																					p.V2658V		Atlas-SNP	.											CMYA5_ENST00000446378,lower_third,carcinoma,0,2	CMYA5	643	2	0			c.A7974G						scavenged	.						48	48	48					5																	79032562		1831	4091	5922	SO:0001819	synonymous_variant	202333	exon2			TCTAGTATTAGAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7974A>G	5.37:g.79032562A>G		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																			.	.	none		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79032562	A	G	79032562	2	3	22	1	0	0	0	0	0	0	0	1	3590	436	16	2		2	CMYA5	5	79032562	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1190	79032562	101882698	3038	8146			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
CMYA5	202333	hgsc.bcm.edu	37	chr5	79033306	79033306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaagcaatgctgataaAatggtttctaataaagaaat	7	5	2	2	rs2278239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79033306A>C	ENST00000446378.2	+	2	8749	c.8718A>C	c.(8716-8718)aaA>aaC	p.K2906N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2906			K -> N (in dbSNP:rs2278239).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGCTGATAAAATGGTTTCTA	0.408													A|||	1339	0.267372	0.5605	0.0807	5008	,	,		19741	0.3621		0.0815	False		,,,				2504	0.0971				p.K2906N		Atlas-SNP	.											.	CMYA5	643	.	0			c.A8718C						PASS	.	A	ASN/LYS	1801,1927		446,909,509	65	61	62		8718	-0.1	0	5	dbSNP_100	62	715,7481		39,637,3422	yes	missense	CMYA5	NM_153610.3	94	485,1546,3931	CC,CA,AA		8.7238,48.3101,21.1003	benign	2906/4070	79033306	2516,9408	1864	4098	5962	SO:0001583	missense	202333	exon2			TGATAAAATGGTT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8718A>C	5.37:g.79033306A>C	ENSP00000394770:p.Lys2906Asn	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	614	0.28113553113553114	294	0.5975609756097561	29	0.08011049723756906	232	0.40559440559440557	59	0.07783641160949868	A	5.559	0.287917	0.10513	0.483101	0.087238	ENSG00000164309	ENST00000446378	T	0.38077	1.16	6.07	-0.131	0.13494	.	0.712405	0.13179	N	0.407696	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.26195	0.144	B	0.21546	0.035	T	0.40001	-0.9586	9	0.49607	T	0.09	.	2.2812	0.04114	0.3041:0.1227:0.3893:0.184	rs2278239;rs52812215;rs58612098;rs2278239	2906	Q8N3K9	CMYA5_HUMAN	N	2906	ENSP00000394770:K2906N	ENSP00000394770:K2906N	K	+	3	2	CMYA5	79069062	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	0.658000	0.24979	-0.026000	0.13895	-0.256000	0.11100	AAA	A|0.698;C|0.302	0.302	strong		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79033306	A	C	79033306	3	2	22	1	0	0	0	0	1	0	0	0	3590	11	1	5	8724	5	CMYA5	5	79033306	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	744	79033306	101881954	3039	8147			9	38		13	13	8528	N	T_G_C_A	8.120531e-05
ANKRD34B	340120	hgsc.bcm.edu	37	chr5	79854667	79854667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggatctttttctttcctAtaagtgctttgccgtcttct	7	9	4	1	rs147745221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79854667A>G	ENST00000338682.3	-	5	1844	c.1172T>C	c.(1171-1173)aTa>aCa	p.I391T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	391						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTCTTTCCTATAAGTGCTTT	0.463													a|||	2	0.000399361	0.0015	0.0	5008	,	,		14523	0.0		0.0	False		,,,				2504	0.0				p.I391T		Atlas-SNP	.											.	ANKRD34B	61	.	0			c.T1172C						PASS	.	G	THR/ILE	12,4394	19.1+/-41.9	0,12,2191	57	62	60		1172	-5.4	0	5	dbSNP_134	60	0,8600		0,0,4300	yes	missense	ANKRD34B	NM_001004441.2	89	0,12,6491	GG,GA,AA		0.0,0.2724,0.0923	benign	391/515	79854667	12,12994	2203	4300	6503	SO:0001583	missense	340120	exon5			TTTCCTATAAGTG		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1172T>C	5.37:g.79854667A>G	ENSP00000339802:p.Ile391Thr	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	57	34	0.596491	NM_001004441	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	a	4.439	0.081337	0.08533	0.002724	0.0	ENSG00000189127	ENST00000338682	T	0.20738	2.05	5.8	-5.38	0.02673	.	17.413900	0.01263	N	0.009220	T	0.17450	0.0419	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25293	-1.0136	10	0.40728	T	0.16	3.3058	10.1179	0.42603	0.5602:0.0:0.3519:0.0879	.	391	A5PLL1	AN34B_HUMAN	T	391	ENSP00000339802:I391T	ENSP00000339802:I391T	I	-	2	0	ANKRD34B	79890423	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	-0.530000	0.06179	-1.261000	0.02462	-0.976000	0.02587	ATA	A|0.999;G|0.001	0.001	strong		0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		G	79854667	A	G	79854667	3	3	22	1	0	0	0	0	1	0	0	0	663	449	16	2	376	2	ANKRD34B	5	79854667	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	821361	79854667	101060593	3040	8148										
MSH3	4437	hgsc.bcm.edu	37	chr5	79966029	79966029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaaaagcatctatacgccGctagaattacaatacataga	5	10	1	2	rs1805355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79966029G>A	ENST00000265081.6	+	4	773	c.693G>A	c.(691-693)ccG>ccA	p.P231P		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	231	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTATACGCCGCTAGAATTAC	0.378								Mismatch excision repair (MMR)					G|||	916	0.182907	0.1974	0.2651	5008	,	,		16920	0.3383		0.0537	False		,,,				2504	0.0777				p.P231P	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.G693A						PASS	.	G		797,3609	319.3+/-296.1	66,665,1472	133	131	131		693	-6.6	0	5	dbSNP_92	131	524,8076	146.6+/-202.2	14,496,3790	no	coding-synonymous	MSH3	NM_002439.3		80,1161,5262	AA,AG,GG		6.093,18.089,10.1569		231/1138	79966029	1321,11685	2203	4300	6503	SO:0001819	synonymous_variant	4437	exon4			TACGCCGCTAGAA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.693G>A	5.37:g.79966029G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	192	190	0.989583	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			G|0.817;A|0.183	0.183	strong		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		A	79966029	G	A	79966029	2	1	22	1	0	0	0	0	0	0	0	1	9871	1074	38	1		1	MSH3	5	79966029	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111362	79966029	100949231	3041	8149										
MSH3	4437	hgsc.bcm.edu	37	chr5	79974885	79974885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtccgagcaaacagaggCgctcatccacagagccacat	9	14	1	2	rs35121792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:79974885C>T	ENST00000265081.6	+	8	1393	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	438					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAAACAGAGGCGCTCATCCAC	0.473								Mismatch excision repair (MMR)					C|||	5	0.000998403	0.0015	0.0	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.0031				p.A438V	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.C1313T						PASS	.	C	VAL/ALA	14,4392	21.2+/-45.6	0,14,2189	133	129	130		1313	-11	0	5	dbSNP_126	130	0,8600		0,0,4300	yes	missense	MSH3	NM_002439.3	64	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	benign	438/1138	79974885	14,12992	2203	4300	6503	SO:0001583	missense	4437	exon8			CAGAGGCGCTCAT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1313C>T	5.37:g.79974885C>T	ENSP00000265081:p.Ala438Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513487	0.44660	0.003177	0.0	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86562	-2.14	5.51	-11.0	0.00169	DNA mismatch repair protein MutS, connector (2);	1.009680	0.07961	N	0.982372	T	0.70185	0.3195	N	0.14661	0.345	0.09310	N	1	B	0.22800	0.075	B	0.21546	0.035	T	0.55780	-0.8087	9	.	.	.	4.4871	11.55	0.50715	0.1018:0.6438:0.1479:0.1066	rs35121792	438	P20585	MSH3_HUMAN	V	438;429	ENSP00000265081:A438V	.	A	+	2	0	MSH3	80010641	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.700000	0.01905	-2.495000	0.00514	-1.181000	0.01715	GCG	C|0.999;T|0.001	0.001	strong		0.473	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		T	79974885	C	T	79974885	3	4	22	1	0	0	0	0	1	0	0	0	9871	768	27	1	1343	1	MSH3	5	79974885	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8856	79974885	100940375	3042	8150										
RASGRF2	5924	hgsc.bcm.edu	37	chr5	80390736	80390736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagtggtggagcctcctgaCgctgccgccttcactgttgt	12	12	1	1	rs34039392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:80390736C>T	ENST00000265080.4	+	12	1747	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	560	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGCCTCCTGACGCTGCCGCCT	0.463													C|||	296	0.0591054	0.2171	0.0086	5008	,	,		16224	0.0		0.003	False		,,,				2504	0.0				p.D560D		Atlas-SNP	.											.	RASGRF2	165	.	0			c.C1680T						PASS	.	C		740,3666	303.8+/-288.1	64,612,1527	102	103	102		1680	-4.2	0	5	dbSNP_126	102	23,8577	15.3+/-51.7	0,23,4277	no	coding-synonymous	RASGRF2	NM_006909.1		64,635,5804	TT,TC,CC		0.2674,16.7953,5.8665		560/1238	80390736	763,12243	2203	4300	6503	SO:0001819	synonymous_variant	5924	exon12			TCCTGACGCTGCC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1680C>T	5.37:g.80390736C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	47	26	0.553191	NM_006909	B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	CCDS4052.1																																																																																			C|0.946;T|0.054	0.054	strong		0.463	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		T	80390736	C	T	80390736	2	4	22	1	0	0	0	0	0	0	0	1	13073	535	19	1		1	RASGRF2	5	80390736	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	415851	80390736	100524524	3043	8151										
RASGRF2	5924	hgsc.bcm.edu	37	chr5	80419576	80419576	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcggcacctccgctatcgAcagcctggaggtaagagctc	11	15	0	1	rs34593336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:80419576A>C	ENST00000265080.4	+	16	2653	c.2586A>C	c.(2584-2586)cgA>cgC	p.R862R		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	862					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCGCTATCGACAGCCTGGAG	0.517													C|||	370	0.0738818	0.2655	0.0259	5008	,	,		17367	0.0		0.001	False		,,,				2504	0.0				p.R862R		Atlas-SNP	.											.	RASGRF2	165	.	0			c.A2586C						PASS	.	C		1107,3299	718.5+/-408.8	144,819,1240	72	62	65		2586	2	1	5	dbSNP_126	65	27,8573	818.0+/-406.9	1,25,4274	no	coding-synonymous	RASGRF2	NM_006909.1		145,844,5514	CC,CA,AA		0.314,25.1248,8.7191		862/1238	80419576	1134,11872	2203	4300	6503	SO:0001819	synonymous_variant	5924	exon16			CTATCGACAGCCT	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2586A>C	5.37:g.80419576A>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	123	60	0.487805	NM_006909	B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	CCDS4052.1																																																																																			A|0.922;C|0.078	0.078	strong		0.517	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		C	80419576	A	C	80419576	2	2	22	1	0	0	0	0	0	0	0	1	13073	262	10	5		5	RASGRF2	5	80419576	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	28840	80419576	100495684	3044	8152										
ZCCHC9	84240	hgsc.bcm.edu	37	chr5	80604427	80604427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaattgcagattgcccCgccgcccttgaaaatcaaga	9	12	1	3	rs149561750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:80604427C>T	ENST00000254037.2	+	2	3587	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ZCCHC9_ENST00000380199.5_Silent_p.P144P|ZCCHC9_ENST00000407610.3_Silent_p.P144P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.P144P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	144					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CAGATTGCCCCGCCGCCCTTG	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0				p.P144P		Atlas-SNP	.											ZCCHC9,bladder,carcinoma,0,1	ZCCHC9	26	1	0			c.C432T						scavenged	.	C	,,	20,4386	28.1+/-56.4	1,18,2184	87	88	88		432,432,432	-11.9	0.6	5	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZCCHC9	NM_001131035.1,NM_001131036.1,NM_032280.2	,,	1,18,6484	TT,TC,CC		0.0,0.4539,0.1538	,,	144/272,144/272,144/272	80604427	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	84240	exon3			TTGCCCCGCCGCC	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.432C>T	5.37:g.80604427C>T		Somatic	187	1	0.00534759		WXS	Illumina HiSeq	Phase_I	180	78	0.433333	NM_001131036	B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	CCDS4054.1																																																																																			C|0.998;T|0.002	0.002	strong		0.473	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		T	80604427	C	T	80604427	2	4	22	1	0	0	0	0	0	0	0	1	17592	639	23	1		1	ZCCHC9	5	80604427	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	184851	80604427	100310833	3045	8153										
ZCCHC9	84240	hgsc.bcm.edu	37	chr5	80608363	80608363	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttctattcctttacagAgcgaatggtcacagttggtc	8	8	2	1	rs144053491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:80608363A>C	ENST00000254037.2	+	5	3853	c.698A>C	c.(697-699)gAg>gCg	p.E233A	ZCCHC9_ENST00000407610.3_Splice_Site_p.E233A|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Splice_Site_p.E233A|ZCCHC9_ENST00000438268.2_Splice_Site_p.E233A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	233					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TCCTTTACAGAGCGAATGGTC	0.368													A|||	2	0.000399361	0.0015	0.0	5008	,	,		20172	0.0		0.0	False		,,,				2504	0.0				p.E233A		Atlas-SNP	.											.	ZCCHC9	26	.	0			c.A698C						PASS	.	A	ALA/GLU,ALA/GLU,ALA/GLU	19,4387	27.2+/-55.0	1,17,2185	75	73	74		698,698,698	5.9	0.9	5	dbSNP_134	74	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice	ZCCHC9	NM_001131035.1,NM_001131036.1,NM_032280.2	107,107,107	1,17,6485	CC,CA,AA		0.0,0.4312,0.1461	benign,benign,benign	233/272,233/272,233/272	80608363	19,12987	2203	4300	6503	SO:0001630	splice_region_variant	84240	exon6			TTACAGAGCGAAT	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.698-1A>C	5.37:g.80608363A>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	107	54	0.504673	NM_001131036	B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	10.88	1.474400	0.26423	0.004312	0.0	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.89	5.89	0.94794	.	0.392038	0.30302	N	0.009933	T	0.20047	0.0482	N	0.03608	-0.345	0.29325	N	0.867064	B	0.06786	0.001	B	0.06405	0.002	T	0.13072	-1.0523	9	.	.	.	.	11.9071	0.52719	0.8547:0.1453:0.0:0.0	.	233	Q8N567	ZCHC9_HUMAN	A	233	ENSP00000254037:E233A;ENSP00000385047:E233A;ENSP00000369546:E233A;ENSP00000412637:E233A	.	E	+	2	0	ZCCHC9	80644119	0.991000	0.36638	0.942000	0.38095	0.749000	0.42624	2.913000	0.48790	2.246000	0.74042	0.533000	0.62120	GAG	A|0.998;C|0.002	0.002	strong		0.368	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280	Missense_Mutation	C	80608363	A	C	80608363	5	2	22	1	0	0	0	0	0	0	1	0	17592	318	11	5	716	5	ZCCHC9	5	80608363	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3936	80608363	100306897	3046	8154										
ACOT12	134526	hgsc.bcm.edu	37	chr5	80655766	80655766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaattgttaaaggtatctTcatgttgtaatcgaactttc	6	5	2	0	rs147339997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:80655766T>G	ENST00000307624.3	-	5	480	c.452A>C	c.(451-453)gAa>gCa	p.E151A	ACOT12_ENST00000513751.1_Missense_Mutation_p.E151A	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	151					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAAGGTATCTTCATGTTGTAA	0.333													T|||	11	0.00219649	0.0083	0.0	5008	,	,		17992	0.0		0.0	False		,,,				2504	0.0				p.E151A		Atlas-SNP	.											.	ACOT12	57	.	0			c.A452C						PASS	.	T	ALA/GLU	45,4361	47.5+/-82.1	0,45,2158	127	124	125		452	5	0.7	5	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACOT12	NM_130767.2	107	0,46,6457	GG,GT,TT		0.0116,1.0213,0.3537	possibly-damaging	151/556	80655766	46,12960	2203	4300	6503	SO:0001583	missense	134526	exon5			GTATCTTCATGTT	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.452A>C	5.37:g.80655766T>G	ENSP00000303246:p.Glu151Ala	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	152	79	0.519737	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	0.472	-0.883839	0.02530	0.010213	1.16E-4	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.30981	1.51;1.51	5.04	5.04	0.67666	.	0.058734	0.64402	D	0.000004	T	0.14570	0.0352	L	0.35249	1.045	0.47094	D	0.999312	B;B	0.13145	0.0;0.007	B;B	0.12156	0.001;0.007	T	0.06734	-1.0810	10	0.11794	T	0.64	-31.4031	9.2551	0.37579	0.0:0.0858:0.0:0.9142	.	151;151	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	A	151	ENSP00000303246:E151A;ENSP00000421628:E151A	ENSP00000303246:E151A	E	-	2	0	ACOT12	80691522	0.996000	0.38824	0.705000	0.30386	0.094000	0.18550	1.765000	0.38481	2.030000	0.59900	0.533000	0.62120	GAA	T|0.996;G|0.004	0.004	strong		0.333	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		G	80655766	T	G	80655766	3	3	22	1	0	0	0	0	1	0	0	0	150	1783	62	5	1259	5	ACOT12	5	80655766	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47403	80655766	100259494	3047	8155										
XRCC4	7518	hgsc.bcm.edu	37	chr5	82400773	82400773	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagaatccaccttgtttCtgaacccagtataactcatt	5	11	2	2	rs28383138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82400773C>G	ENST00000511817.1	+	2	115	c.35C>G	c.(34-36)tCt>tGt	p.S12C	XRCC4_ENST00000282268.3_Missense_Mutation_p.S12C|XRCC4_ENST00000338635.6_Missense_Mutation_p.S12C|XRCC4_ENST00000396027.4_Missense_Mutation_p.S12C|XRCC4_ENST00000509268.1_3'UTR			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	12			S -> C (in dbSNP:rs28383138). {ECO:0000269|Ref.6}.		cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CACCTTGTTTCTGAACCCAGT	0.333								Non-homologous end-joining					C|||	39	0.00778754	0.0287	0.0014	5008	,	,		14902	0.0		0.0	False		,,,				2504	0.0				p.S12C		Atlas-SNP	.											.	XRCC4	37	.	0			c.C35G						PASS	.	C	CYS/SER,CYS/SER,CYS/SER	104,4302	81.9+/-120.4	4,96,2103	90	94	93		35,35,35	4.8	1	5	dbSNP_125	93	0,8596		0,0,4298	yes	missense,missense,missense	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	112,112,112	4,96,6401	GG,GC,CC		0.0,2.3604,0.7999	probably-damaging,probably-damaging,probably-damaging	12/335,12/337,12/335	82400773	104,12898	2203	4298	6501	SO:0001583	missense	7518	exon2			TTGTTTCTGAACC	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.35C>G	5.37:g.82400773C>G	ENSP00000421491:p.Ser12Cys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	144	69	0.479167	NM_003401	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	CCDS4059.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	14.29	2.491902	0.44352	0.023604	0.0	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.67	4.8	0.61643	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (2);	0.132928	0.51477	D	0.000085	T	0.23330	0.0564	M	0.74258	2.255	0.49687	D	0.99981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.34378	-0.9831	10	0.87932	D	0	-5.2753	14.8049	0.69945	0.0:0.9305:0.0:0.0695	rs28383138	12;12;12	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	C	12	ENSP00000282268:S12C;ENSP00000342011:S12C;ENSP00000379344:S12C;ENSP00000421491:S12C	ENSP00000282268:S12C	S	+	2	0	XRCC4	82436529	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	3.483000	0.53194	1.524000	0.49035	0.591000	0.81541	TCT	C|0.993;G|0.007	0.007	strong		0.333	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		G	82400773	C	G	82400773	3	3	22	1	0	0	0	0	1	0	0	0	17452	913	32	4	37	4	XRCC4	5	82400773	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1745007	82400773	98514487	3048	8156										
XRCC4	7518	hgsc.bcm.edu	37	chr5	82648943	82648943	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattttgattttcttttcaGttctaggcctgattcttcac	5	9	5	2	rs1805377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82648943G>A	ENST00000511817.1	+	8	973		c.e8-1		XRCC4_ENST00000282268.3_Intron|XRCC4_ENST00000338635.6_Splice_Site|XRCC4_ENST00000396027.4_Intron			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4						cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTCTTTTCAGTTCTAGGCCT	0.343								Non-homologous end-joining					A|||	1879	0.3752	0.4758	0.3329	5008	,	,		16220	0.7044		0.1402	False		,,,				2504	0.1718				.		Atlas-SNP	.											.	XRCC4	37	.	0			c.894-1G>A	GRCh37	CS075240	XRCC4	S	rs1805377	PASS	.	A	,,	1933,2469	591.6+/-387.6	422,1089,690	76	86	82		,,	-0.1	0.7	5	dbSNP_92	82	1052,7548	764.1+/-407.6	64,924,3312	yes	intron,splice-3,intron	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	,,	486,2013,4002	AA,AG,GG		12.2326,43.9119,22.958	,,	,,	82648943	2985,10017	2201	4300	6501	SO:0001630	splice_region_variant	7518	exon8			TTTTCAGTTCTAG	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.894-1G>A	5.37:g.82648943G>A		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	161	71	0.440994	NM_022406	A8K3X4|Q9BS72|Q9UP94	Splice_Site	SNP	ENST00000511817.1	37	CCDS4059.1	858	0.39285714285714285	239	0.48577235772357724	115	0.31767955801104975	394	0.6888111888111889	110	0.14511873350923482	A	0.718	-0.784496	0.02907	0.439119	0.122326	ENSG00000152422	ENST00000338635;ENST00000511817;ENST00000514538	.	.	.	5.51	-0.0652	0.13769	.	.	.	.	.	.	.	.	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3151	0.07030	0.3839:0.0:0.2655:0.3506	rs1805377;rs3777014;rs61086000;rs1805377	.	.	.	.	-1	.	.	.	+	.	.	XRCC4	82684699	0.003000	0.15002	0.723000	0.30687	0.002000	0.02628	-0.958000	0.03857	-0.153000	0.11137	-2.023000	0.00429	.	G|0.679;A|0.321	0.321	strong		0.343	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	Intron	A	82648943	G	A	82648943	5	1	22	1	0	0	0	0	0	0	1	0	17452	1043	36	2	919	2	XRCC4	5	82648943	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248170	82648943	98266317	3049	8157										
XRCC4	7518	hgsc.bcm.edu	37	chr5	82648977	82648977	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcactacctgagacgtcTaaaaaggagcacatctcagc	7	12	4	1	rs1056503	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82648977T>G	ENST00000511817.1	+	8	1007	c.927T>G	c.(925-927)tcT>tcG	p.S309S	XRCC4_ENST00000282268.3_Silent_p.S307S|XRCC4_ENST00000396027.4_Silent_p.S307S|XRCC4_ENST00000338635.6_Silent_p.S309S			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	309					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CTGAGACGTCTAAAAAGGAGC	0.338								Non-homologous end-joining					G|||	1881	0.375599	0.4758	0.3329	5008	,	,		17355	0.7063		0.1402	False		,,,				2504	0.1718				p.S309S		Atlas-SNP	.											.	XRCC4	37	.	0			c.T927G						PASS	.	G	,,	1942,2464	617.9+/-393.1	424,1094,685	113	123	120		921,927,921	1.1	0	5	dbSNP_86	120	1055,7543	768.5+/-407.6	63,929,3307	no	coding-synonymous,coding-synonymous,coding-synonymous	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	,,	487,2023,3992	GG,GT,TT		12.2703,44.0763,23.0468	,,	307/335,309/337,307/335	82648977	2997,10007	2203	4299	6502	SO:0001819	synonymous_variant	7518	exon8			GACGTCTAAAAAG	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.927T>G	5.37:g.82648977T>G		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	240	113	0.470833	NM_022406	A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	CCDS4059.1																																																																																			T|0.685;G|0.315	0.315	strong		0.338	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		G	82648977	T	G	82648977	2	3	22	1	0	0	0	0	0	0	0	1	17452	1509	53	5		5	XRCC4	5	82648977	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34	82648977	98266283	3050	8158										
VCAN	1462	hgsc.bcm.edu	37	chr5	82786194	82786194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggcgatgcctccctcacTgtggtcaagctgctggcaag	14	12	2	0	rs12332199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82786194T>C	ENST00000265077.3	+	3	913	c.348T>C	c.(346-348)acT>acC	p.T116T	VCAN_ENST00000513984.1_Silent_p.T116T|VCAN_ENST00000343200.5_Silent_p.T116T|VCAN_ENST00000502527.2_Silent_p.T116T|VCAN_ENST00000342785.4_Silent_p.T116T|VCAN_ENST00000512590.2_Silent_p.T68T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	116	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCTCCCTCACTGTGGTCAAGC	0.532													C|||	1714	0.342252	0.5	0.3775	5008	,	,		19796	0.2034		0.3936	False		,,,				2504	0.1943				p.T116T		Atlas-SNP	.											.	VCAN	498	.	0			c.T348C						PASS	.	C	,,,	2057,2349	608.2+/-391.1	468,1121,614	146	137	140		348,348,348,348	0.9	0.1	5	dbSNP_120	140	3247,5353	649.2+/-400.6	601,2045,1654	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	1069,3166,2268	CC,CT,TT		37.7558,46.6863,40.7812	,,,	116/656,116/2410,116/1643,116/3397	82786194	5304,7702	2203	4300	6503	SO:0001819	synonymous_variant	1462	exon3			CCTCACTGTGGTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.348T>C	5.37:g.82786194T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																			T|0.613;C|0.387	0.387	strong		0.532	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82786194	T	C	82786194	2	2	22	1	0	0	0	0	0	0	0	1	17135	1567	55	3		3	VCAN	5	82786194	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	137217	82786194	98129066	3051	8159										
VCAN	1462	hgsc.bcm.edu	37	chr5	82833145	82833145	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagtgttgcaccttctcaGaatttctcggacagctctga	9	10	3	2	rs2548541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82833145G>A	ENST00000265077.3	+	8	4888	c.4323G>A	c.(4321-4323)caG>caA	p.Q1441Q	VCAN_ENST00000343200.5_Silent_p.Q454Q|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1441	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CACCTTCTCAGAATTTCTCGG	0.453																																					p.Q1441Q		Atlas-SNP	.											.	VCAN	498	.	0			c.G4323A						PASS	.	A	,,,	3493,913	350.5+/-310.9	1395,703,105	77	80	79		,1362,,4323	-7.8	0.2	5	dbSNP_100	79	5248,3352	497.6+/-374.5	1577,2094,629	no	intron,coding-synonymous,intron,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	2972,2797,734	AA,AG,GG		38.9767,20.7217,32.7926	,,,	,454/2410,,1441/3397	82833145	8741,4265	2203	4300	6503	SO:0001819	synonymous_variant	1462	exon8			TTCTCAGAATTTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4323G>A	5.37:g.82833145G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																			G|0.316;A|0.684	0.684	strong		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82833145	G	A	82833145	2	1	22	1	0	0	0	0	0	0	0	1	17135	933	33	2		2	VCAN	5	82833145	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46951	82833145	98082115	3052	8160										
VCAN	1462	hgsc.bcm.edu	37	chr5	82834299	82834299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggctgaccactctcccacGtagtcctgcctctgtcttta	8	15	3	1	rs188703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82834299G>A	ENST00000265077.3	+	8	6042	c.5477G>A	c.(5476-5478)cGt>cAt	p.R1826H	VCAN_ENST00000343200.5_Missense_Mutation_p.R839H|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1826	GAG-beta.		R -> H (in dbSNP:rs188703).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTCTCCCACGTAGTCCTGCC	0.483													G|||	1795	0.358427	0.3449	0.4611	5008	,	,		16825	0.3234		0.4254	False		,,,				2504	0.271				p.R1826H		Atlas-SNP	.											VCAN,NS,carcinoma,-1,1	VCAN	498	1	0			c.G5477A						scavenged	.	G	,HIS/ARG,,HIS/ARG	1549,2857	445.5+/-347.7	261,1027,915	69	77	74		,2516,,5477	0.2	0	5	dbSNP_79	74	3441,5159	478.3+/-369.9	704,2033,1563	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,29,,29	965,3060,2478	AA,AG,GG		40.0116,35.1566,38.3669	,benign,,benign	,839/2410,,1826/3397	82834299	4990,8016	2203	4300	6503	SO:0001583	missense	1462	exon8			TCCCACGTAGTCC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5477G>A	5.37:g.82834299G>A	ENSP00000265077:p.Arg1826His	Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	98	49	0.5	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	832	0.38095238095238093	139	0.28252032520325204	169	0.46685082872928174	203	0.3548951048951049	321	0.4234828496042216	G	12.50	1.956712	0.34565	0.351566	0.400116	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84660	-1.85;-1.88;3.27	5.82	0.253	0.15551	.	0.983187	0.08317	N	0.964443	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.31931	0.347;0.235	B;B	0.27170	0.077;0.035	T	0.21415	-1.0246	9	0.49607	T	0.09	.	2.0501	0.03569	0.1803:0.1061:0.4634:0.2501	rs188703;rs309558;rs479344;rs52807291;rs60541692;rs188703	839;1826	P13611-2;P13611	.;CSPG2_HUMAN	H	1826;839;839	ENSP00000265077:R1826H;ENSP00000340062:R839H;ENSP00000426251:R839H	ENSP00000265077:R1826H	R	+	2	0	VCAN	82870055	0.003000	0.15002	0.001000	0.08648	0.027000	0.11550	0.786000	0.26844	0.328000	0.23435	0.655000	0.94253	CGT	G|0.623;A|0.377	0.377	strong		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82834299	G	A	82834299	3	1	22	1	0	0	0	0	1	0	0	0	17135	1145	40	1	5503	1	VCAN	5	82834299	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1154	82834299	98080961	3053	8161										
VCAN	1462	hgsc.bcm.edu	37	chr5	82835724	82835724	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgacaaaattgaagactTtaacagaatggaaaatgtgg	10	3	0	4	rs160278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82835724T>A	ENST00000265077.3	+	8	7467	c.6902T>A	c.(6901-6903)tTt>tAt	p.F2301Y	VCAN_ENST00000343200.5_Missense_Mutation_p.F1314Y|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2301	GAG-beta.		F -> Y (in dbSNP:rs160278).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTGAAGACTTTAACAGAATG	0.373													C|||	2346	0.46845	0.5091	0.5231	5008	,	,		21996	0.3919		0.5199	False		,,,				2504	0.4008				p.F2301Y		Atlas-SNP	.											.	VCAN	498	.	0			c.T6902A						PASS	.	C	,TYR/PHE,,TYR/PHE	2200,2206		547,1106,550	103	102	102		,3941,,6902	3.6	0	5	dbSNP_79	102	4244,4356		1065,2114,1121	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,22,,22	1612,3220,1671	AA,AT,TT		49.3488,49.9319,49.5464	,benign,,benign	,1314/2410,,2301/3397	82835724	6444,6562	2203	4300	6503	SO:0001583	missense	1462	exon8			AAGACTTTAACAG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6902T>A	5.37:g.82835724T>A	ENSP00000265077:p.Phe2301Tyr	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	1058	0.48443223443223443	235	0.47764227642276424	192	0.5303867403314917	239	0.4178321678321678	392	0.5171503957783641	C	0.004	-2.279707	0.00254	0.499319	0.493488	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.16597	2.33;2.33	6.07	3.61	0.41365	.	1.149720	0.06303	N	0.701319	T	0.00012	0.0000	N	0.11427	0.14	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44406	-0.9330	9	0.02654	T	1	.	6.6224	0.22810	0.4935:0.1278:0.0:0.3787	rs160278;rs310483;rs568397;rs871868;rs3734095;rs3844744;rs52819818;rs160278	1314;2301	P13611-2;P13611	.;CSPG2_HUMAN	Y	2301;1314	ENSP00000265077:F2301Y;ENSP00000340062:F1314Y	ENSP00000265077:F2301Y	F	+	2	0	VCAN	82871480	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.374000	0.20501	0.527000	0.28560	-1.150000	0.01838	TTT	T|0.507;G|0.000;N|0.000;A|0.493	0.493	strong		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82835724	T	A	82835724	3	1	22	1	0	0	0	0	1	0	0	0	17135	1841	64	5	6928	5	VCAN	5	82835724	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1425	82835724	98079536	3054	8162										
VCAN	1462	hgsc.bcm.edu	37	chr5	82835852	82835852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacactggagcagaaggaCccacggtggcacctctccct	12	14	1	2	rs61733401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82835852C>T	ENST00000265077.3	+	8	7595	c.7030C>T	c.(7030-7032)Ccc>Tcc	p.P2344S	VCAN_ENST00000343200.5_Missense_Mutation_p.P1357S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2344	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCAGAAGGACCCACGGTGGC	0.468													C|||	165	0.0329473	0.1172	0.0101	5008	,	,		19057	0.0		0.003	False		,,,				2504	0.0				p.P2344S		Atlas-SNP	.											.	VCAN	498	.	0			c.C7030T						PASS	.	C	,SER/PRO,,SER/PRO	417,3989	203.8+/-226.2	21,375,1807	90	85	87		,4069,,7030	2	0	5	dbSNP_129	87	4,8596	3.7+/-12.6	0,4,4296	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,74,,74	21,379,6103	TT,TC,CC		0.0465,9.4644,3.237	,benign,,benign	,1357/2410,,2344/3397	82835852	421,12585	2203	4300	6503	SO:0001583	missense	1462	exon8			GAAGGACCCACGG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7030C>T	5.37:g.82835852C>T	ENSP00000265077:p.Pro2344Ser	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	175	80	0.457143	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	64	0.029304029304029304	61	0.12398373983739837	3	0.008287292817679558	0	0.0	0	0.0	C	2.456	-0.325144	0.05350	0.094644	4.65E-4	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.37235	1.21;1.21	6.07	2.02	0.26589	.	0.557747	0.17822	N	0.160824	T	0.00271	0.0008	L	0.41824	1.3	0.09310	N	1	P;P	0.38597	0.639;0.506	B;B	0.30029	0.11;0.051	T	0.07539	-1.0767	10	0.09843	T	0.71	.	6.8445	0.23980	0.3387:0.5251:0.0:0.1362	rs61733401	1357;2344	P13611-2;P13611	.;CSPG2_HUMAN	S	2344;1357	ENSP00000265077:P2344S;ENSP00000340062:P1357S	ENSP00000265077:P2344S	P	+	1	0	VCAN	82871608	0.000000	0.05858	0.007000	0.13788	0.153000	0.21895	-0.086000	0.11233	0.839000	0.34971	0.650000	0.86243	CCC	C|0.965;T|0.035	0.035	strong		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82835852	C	T	82835852	3	4	22	1	0	0	0	0	1	0	0	0	17135	507	18	2	7056	2	VCAN	5	82835852	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	128	82835852	98079408	3055	8163										
VCAN	1462	hgsc.bcm.edu	37	chr5	82836912	82836912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatccctgccaattcctcGtaagtctgccacagttattc	5	14	1	0	rs61733389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82836912G>A	ENST00000265077.3	+	8	8655	c.8090G>A	c.(8089-8091)cGt>cAt	p.R2697H	VCAN_ENST00000343200.5_Missense_Mutation_p.R1710H|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2697	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCAATTCCTCGTAAGTCTGCC	0.453													A|||	154	0.0307508	0.1097	0.0086	5008	,	,		22255	0.0		0.003	False		,,,				2504	0.0				p.R2697H		Atlas-SNP	.											.	VCAN	498	.	0			c.G8090A						PASS	.	A	,HIS/ARG,,HIS/ARG	375,4031	781.0+/-414.5	12,351,1840	87	82	84		,5129,,8090	3.4	0	5	dbSNP_129	84	4,8596	806.0+/-407.3	0,4,4296	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,29,,29	12,355,6136	AA,AG,GG		0.0465,8.5111,2.914	,benign,,benign	,1710/2410,,2697/3397	82836912	379,12627	2203	4300	6503	SO:0001583	missense	1462	exon8			TTCCTCGTAAGTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8090G>A	5.37:g.82836912G>A	ENSP00000265077:p.Arg2697His	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	87	51	0.586207	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	59	0.027014652014652016	57	0.11585365853658537	2	0.0055248618784530384	0	0.0	0	0.0	A	3.518	-0.098356	0.07010	0.085111	4.65E-4	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.30714	1.52;1.52	6.17	3.43	0.39272	.	0.411591	0.25929	N	0.027400	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.19031	-1.0318	10	0.33940	T	0.23	.	9.0379	0.36300	0.1951:0.1117:0.6933:0.0	rs61733389	1710;2697	P13611-2;P13611	.;CSPG2_HUMAN	H	2697;1710	ENSP00000265077:R2697H;ENSP00000340062:R1710H	ENSP00000265077:R2697H	R	+	2	0	VCAN	82872668	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.225000	0.09151	0.183000	0.20059	-1.569000	0.00873	CGT	G|0.967;A|0.033	0.033	strong		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82836912	G	A	82836912	3	1	22	1	0	0	0	0	1	0	0	0	17135	1145	40	1	8116	1	VCAN	5	82836912	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1060	82836912	98078348	3056	8164										
VCAN	1462	hgsc.bcm.edu	37	chr5	82837631	82837631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatttccaaaacaaaaccGatggtcaagtttctggagaa	8	7	2	2	rs160277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:82837631G>T	ENST00000265077.3	+	8	9374	c.8809G>T	c.(8809-8811)Gat>Tat	p.D2937Y	VCAN_ENST00000343200.5_Missense_Mutation_p.D1950Y|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2937	GAG-beta.		D -> Y (in dbSNP:rs160277).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACAAAACCGATGGTCAAGT	0.398													G|||	1806	0.360623	0.357	0.4597	5008	,	,		18764	0.3234		0.4254	False		,,,				2504	0.2669				p.D2937Y		Atlas-SNP	.											.	VCAN	498	.	0			c.G8809T						PASS	.	G	,TYR/ASP,,TYR/ASP	1625,2781	482.4+/-359.4	296,1033,874	80	85	83		,5848,,8809	0.8	0	5	dbSNP_79	83	3433,5167	503.3+/-375.9	700,2033,1567	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,160,,160	996,3066,2441	TT,TG,GG		39.9186,36.8815,38.8897	,possibly-damaging,,possibly-damaging	,1950/2410,,2937/3397	82837631	5058,7948	2203	4300	6503	SO:0001583	missense	1462	exon8			AAAACCGATGGTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8809G>T	5.37:g.82837631G>T	ENSP00000265077:p.Asp2937Tyr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	93	37	0.397849	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	837	0.38324175824175827	145	0.29471544715447157	168	0.46408839779005523	203	0.3548951048951049	321	0.4234828496042216	G	12.91	2.079124	0.36662	0.368815	0.399186	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.18338	2.22;2.22	5.99	0.819	0.18785	.	1.042050	0.07483	N	0.904317	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	D;D	0.60160	0.987;0.979	P;P	0.52672	0.706;0.607	T	0.46748	-0.9169	9	0.59425	D	0.04	.	2.3966	0.04391	0.5352:0.1193:0.2293:0.1161	rs160277;rs310482;rs496670;rs3734093;rs52794243;rs60765899;rs160277	1950;2937	P13611-2;P13611	.;CSPG2_HUMAN	Y	2937;1950	ENSP00000265077:D2937Y;ENSP00000340062:D1950Y	ENSP00000265077:D2937Y	D	+	1	0	VCAN	82873387	0.001000	0.12720	0.001000	0.08648	0.083000	0.17756	0.638000	0.24674	0.540000	0.28808	-0.312000	0.09012	GAT	G|0.618;T|0.382	0.382	strong		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82837631	G	T	82837631	3	4	22	1	0	0	0	0	1	0	0	0	17135	1058	37	4	8835	4	VCAN	5	82837631	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	719	82837631	98077629	3057	8165										
EDIL3	10085	hgsc.bcm.edu	37	chr5	83433087	83433087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatttcttcccataaattcGcctgggcactcacaggaata	6	12	2	0	rs58219060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:83433087G>A	ENST00000296591.5	-	5	859	c.441C>T	c.(439-441)ggC>ggT	p.G147G	EDIL3_ENST00000380138.3_Silent_p.G137G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	147	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CCATAAATTCGCCTGGGCACT	0.393													G|||	159	0.0317492	0.118	0.0029	5008	,	,		16170	0.0		0.001	False		,,,				2504	0.0				p.G147G		Atlas-SNP	.											.	EDIL3	94	.	0			c.C441T						PASS	.	G		465,3941	220.7+/-238.1	23,419,1761	175	153	160		441	-4	1	5	dbSNP_129	160	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous	EDIL3	NM_005711.3		23,423,6057	AA,AG,GG		0.0465,10.5538,3.606		147/481	83433087	469,12537	2203	4300	6503	SO:0001819	synonymous_variant	10085	exon5			AAATTCGCCTGGG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.441C>T	5.37:g.83433087G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_005711	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																			G|0.965;A|0.035	0.035	strong		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		A	83433087	G	A	83433087	2	1	22	1	0	0	0	0	0	0	0	1	4915	1074	38	1		1	EDIL3	5	83433087	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	595456	83433087	97482173	3058	8166										
RASA1	5921	hgsc.bcm.edu	37	chr5	86681125	86681125	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctgttacagattctccAtctcctattgctgcaagaac	5	11	3	2	rs137898246		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:86681125A>T	ENST00000274376.6	+	22	3330	c.2766A>T	c.(2764-2766)ccA>ccT	p.P922P	RASA1_ENST00000506290.1_Silent_p.P756P|RASA1_ENST00000456692.2_Silent_p.P745P|RASA1_ENST00000512763.1_Silent_p.P755P	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	922	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAGATTCTCCATCTCCTATTG	0.363																																					p.P922P		Atlas-SNP	.											.	RASA1	213	.	0			c.A2766T						PASS	.	A	,	5,4401	8.1+/-20.4	0,5,2198	124	111	116		2766,2235	-1.5	1	5	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASA1	NM_002890.2,NM_022650.2	,	0,5,6498	TT,TA,AA		0.0,0.1135,0.0384	,	922/1048,745/871	86681125	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5921	exon22			TTCTCCATCTCCT		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2766A>T	5.37:g.86681125A>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	122	68	0.557377	NM_002890	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	CCDS34200.1																																																																																			A|1.000;G|0.000;T|0.000	0.000	strong		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		T	86681125	A	T	86681125	2	4	22	1	0	0	0	0	0	0	0	1	13060	204	8	5		5	RASA1	5	86681125	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3248038	86681125	94234135	3059	8167										
CCNH	902	hgsc.bcm.edu	37	chr5	86695228	86695228	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtgattacgttaagtgcAagctcagcagaatgacatcg	10	8	1	3	rs150856919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:86695228A>T	ENST00000256897.4	-	7	1079	c.855T>A	c.(853-855)ctT>ctA	p.L285L	CCNH_ENST00000508855.1_Silent_p.L211L|CCNH_ENST00000504878.1_Silent_p.L211L	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	285					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CGTTAAGTGCAAGCTCAGCAG	0.388								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.L285L		Atlas-SNP	.											.	CCNH	40	.	0			c.T855A						PASS	.	A	,	4,4402	8.1+/-20.4	0,4,2199	221	187	198		696,855	4.5	1	5	dbSNP_134	198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CCNH	NM_001199189.1,NM_001239.3	,	0,4,6499	TT,TA,AA		0.0,0.0908,0.0308	,	232/271,285/324	86695228	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	902	exon7			AAGTGCAAGCTCA	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.855T>A	5.37:g.86695228A>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	75	33	0.44	NM_001239	Q53X72|Q8TBL9	Silent	SNP	ENST00000256897.4	37	CCDS4064.1																																																																																			A|1.000;T|0.000	0.000	strong		0.388	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		T	86695228	A	T	86695228	2	4	22	1	0	0	0	0	0	0	0	1	2925	117	5	5		5	CCNH	5	86695228	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14103	86695228	94220032	3060	8168										
MBLAC2	153364	hgsc.bcm.edu	37	chr5	89769834	89769834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacgcggtcgaactggtaGaggccgccggagtggtcgaa	17	11	0	1	rs9293544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:89769834G>A	ENST00000316610.6	-	1	751	c.276C>T	c.(274-276)ctC>ctT	p.L92L	MBLAC2_ENST00000514906.1_Silent_p.L92L|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	92						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						CGAACTGGTAGAGGCCGCCGG	0.692													G|||	234	0.0467252	0.1672	0.0173	5008	,	,		15521	0.0		0.001	False		,,,				2504	0.0				p.L92L		Atlas-SNP	.											.	MBLAC2	9	.	0			c.C276T						PASS	.	G		658,3730		45,568,1581	16	17	17		276	2.4	1	5	dbSNP_119	17	3,8583		0,3,4290	no	coding-synonymous	MBLAC2	NM_203406.1		45,571,5871	AA,AG,GG		0.0349,14.9954,5.0948		92/280	89769834	661,12313	2194	4293	6487	SO:0001819	synonymous_variant	153364	exon1			CTGGTAGAGGCCG	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.276C>T	5.37:g.89769834G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	83	49	0.590361	NM_203406	D6RJI1|Q8IY16|Q8N8D8	Silent	SNP	ENST00000316610.6	37	CCDS4067.1																																																																																			G|0.951;A|0.049	0.049	strong		0.692	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		A	89769834	G	A	89769834	2	1	22	1	0	0	0	0	0	0	0	1	9352	929	33	2		2	MBLAC2	5	89769834	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3074606	89769834	91145426	3061	8169										
GPR98	84059	hgsc.bcm.edu	37	chr5	90016763	90016763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttcagagccacctccaTagacatcgaagaagccaata	6	12	2	3	rs199833843		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90016763T>C	ENST00000405460.2	+	45	9731	c.9635T>C	c.(9634-9636)aTa>aCa	p.I3212T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3212					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCACCTCCATAGACATCGAA	0.363													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14469	0.0		0.0	False		,,,				2504	0.0				p.I3212T		Atlas-SNP	.											.	GPR98	605	.	0			c.T9635C						PASS	.	T	THR/ILE	6,3780		0,6,1887	164	164	164		9635	5.8	0	5		164	0,8246		0,0,4123	yes	missense	GPR98	NM_032119.3	89	0,6,6010	CC,CT,TT		0.0,0.1585,0.0499	benign	3212/6307	90016763	6,12026	1893	4123	6016	SO:0001583	missense	84059	exon45			CCTCCATAGACAT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9635T>C	5.37:g.90016763T>C	ENSP00000384582:p.Ile3212Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.64|12.64	1.999550|1.999550	0.35320|0.35320	0.001585|0.001585	0.0|0.0	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.32023|.	1.47|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.571652|.	0.20166|.	N|.	0.097852|.	T|.	0.63426|.	0.2510|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B|.	0.28820|.	0.224;0.094|.	B;B|.	0.21360|.	0.034;0.016|.	T|.	0.60188|.	-0.7312|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.0796|16.0796	0.80995|0.80995	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3212;3212|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	T|Q	3212|778	ENSP00000384582:I3212T|.	ENSP00000296619:I3212T|.	I|X	+|+	2|1	0|0	GPR98|GPR98	90052519|90052519	0.221000|0.221000	0.23642|0.23642	0.005000|0.005000	0.12908|0.12908	0.200000|0.200000	0.23975|0.23975	3.355000|3.355000	0.52262|0.52262	2.195000|2.195000	0.70347|0.70347	0.528000|0.528000	0.53228|0.53228	ATA|TAG	.	.	weak		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90016763	T	C	90016763	3	2	22	1	0	0	0	0	1	0	0	0	6721	1406	49	2	9813	2	GPR98	5	90016763	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	246929	90016763	90898497	3062	8170										
GPR98	84059	hgsc.bcm.edu	37	chr5	90046508	90046508	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgatatatttcctacctcAggagtggtatgtaatttaca	8	6	1	1	rs138029547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90046508A>T	ENST00000405460.2	+	53	11211	c.11115A>T	c.(11113-11115)tcA>tcT	p.S3705S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3705	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCTACCTCAGGAGTGGTAT	0.378													A|||	6	0.00119808	0.0045	0.0	5008	,	,		8333	0.0		0.0	False		,,,				2504	0.0				p.S3705S		Atlas-SNP	.											.	GPR98	605	.	0			c.A11115T						PASS	.	A		20,3702		1,18,1842	161	160	161		11115	-0.2	1	5	dbSNP_134	161	0,8178		0,0,4089	no	coding-synonymous	GPR98	NM_032119.3		1,18,5931	TT,TA,AA		0.0,0.5373,0.1681		3705/6307	90046508	20,11880	1861	4089	5950	SO:0001819	synonymous_variant	84059	exon53			TACCTCAGGAGTG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11115A>T	5.37:g.90046508A>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	80	45	0.5625	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319299	0.23994	0.005373	0.0	ENSG00000164199	ENST00000509621	.	.	.	5.22	-0.155	0.13395	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17899	-1.0354	4	.	.	.	.	4.082	0.09931	0.4998:0.0:0.2692:0.231	.	.	.	.	L	1271	.	.	Q	+	2	0	GPR98	90082264	0.932000	0.31603	0.997000	0.53966	0.994000	0.84299	0.065000	0.14466	-0.183000	0.10585	-0.250000	0.11733	CAG	A|0.999;G|0.001	.	strong		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90046508	A	T	90046508	2	4	22	1	0	0	0	0	0	0	0	1	6721	175	7	5		5	GPR98	5	90046508	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29745	90046508	90868752	3063	8171										
GPR98	84059	hgsc.bcm.edu	37	chr5	90085654	90085654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaagagtcaagggcaccTttggagagattatggtatta	12	5	2	3	rs62000408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90085654T>C	ENST00000405460.2	+	69	14125	c.14029T>C	c.(14029-14031)Ttt>Ctt	p.F4677L	GPR98_ENST00000425867.2_Missense_Mutation_p.F338L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4677	Calx-beta 32. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAGGGCACCTTTGGAGAGAT	0.418													T|||	195	0.0389377	0.1392	0.0144	5008	,	,		15895	0.0		0.001	False		,,,				2504	0.0				p.F4677L		Atlas-SNP	.											.	GPR98	605	.	0			c.T14029C						PASS	.	T	LEU/PHE	398,3186		26,346,1420	49	45	46		14029	-0.6	0	5	dbSNP_129	46	2,8114		0,2,4056	yes	missense	GPR98	NM_032119.3	22	26,348,5476	CC,CT,TT		0.0246,11.1049,3.4188	benign	4677/6307	90085654	400,11300	1792	4058	5850	SO:0001583	missense	84059	exon69			GGCACCTTTGGAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14029T>C	5.37:g.90085654T>C	ENSP00000384582:p.Phe4677Leu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	107	42	0.392523	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	89	0.04075091575091575	82	0.16666666666666666	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	T	1.261	-0.615801	0.03663	0.111049	2.46E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26518	1.73;1.73	5.39	-0.57	0.11753	.	0.692346	0.15354	N	0.266772	T	0.00039	0.0001	N	0.04090	-0.28	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36016	-0.9765	9	0.24483	T	0.36	.	0.8813	0.01235	0.2085:0.1382:0.2213:0.4319	rs62000408	338;4677;338	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	L	4677;4677;338	ENSP00000384582:F4677L;ENSP00000392618:F338L	ENSP00000296619:F4677L	F	+	1	0	GPR98	90121410	0.290000	0.24343	0.000000	0.03702	0.745000	0.42441	0.717000	0.25851	0.061000	0.16311	0.477000	0.44152	TTT	T|0.959;C|0.041	0.041	strong		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90085654	T	C	90085654	3	2	22	1	0	0	0	0	1	0	0	0	6721	1609	56	3	14303	3	GPR98	5	90085654	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39146	90085654	90829606	3064	8172										
GPR98	84059	hgsc.bcm.edu	37	chr5	90103487	90103487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacgtttcctagccctggtTggccagaggcctttgttctt	12	11	1	1	rs7729495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90103487T>C	ENST00000405460.2	+	73	15001	c.14905T>C	c.(14905-14907)Tgg>Cgg	p.W4969R	GPR98_ENST00000425867.2_Missense_Mutation_p.W630R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4969					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGCCCTGGTTGGCCAGAGGC	0.493													C|||	274	0.0547125	0.1967	0.0187	5008	,	,		17141	0.0		0.001	False		,,,				2504	0.0				p.W4969R		Atlas-SNP	.											.	GPR98	605	.	0			c.T14905C						PASS	.	C	ARG/TRP	619,3067		59,501,1283	64	62	63		14905	4.8	0	5	dbSNP_116	63	5,8173		0,5,4084	yes	missense	GPR98	NM_032119.3	101	59,506,5367	CC,CT,TT		0.0611,16.7933,5.2596	benign	4969/6307	90103487	624,11240	1843	4089	5932	SO:0001583	missense	84059	exon73			CCTGGTTGGCCAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14905T>C	5.37:g.90103487T>C	ENSP00000384582:p.Trp4969Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	124	0.056776556776556776	116	0.23577235772357724	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	0.009	-1.821869	0.00589	0.167933	6.11E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.25579	1.91;1.79	5.76	4.84	0.62591	.	0.605769	0.17932	N	0.157144	T	0.00012	0.0000	N	0.00210	-1.845	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31586	-0.9938	8	.	.	.	.	9.4256	0.38578	0.2064:0.7169:0.0:0.0767	rs7729495;rs52807777;rs7729495	630;4969;630	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	4969;4969;630	ENSP00000384582:W4969R;ENSP00000392618:W630R	.	W	+	1	0	GPR98	90139243	0.000000	0.05858	0.007000	0.13788	0.040000	0.13550	0.823000	0.27366	1.454000	0.47793	-0.119000	0.15052	TGG	T|0.926;C|0.074	0.074	strong		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90103487	T	C	90103487	3	2	22	1	0	0	0	0	1	0	0	0	6721	1812	63	2	15195	2	GPR98	5	90103487	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17833	90103487	90811773	3065	8173										
GPR98	84059	hgsc.bcm.edu	37	chr5	90136732	90136732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcaacagagtgctccataCcatcagcatgaaagtggcca	8	12	2	2	rs61748627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90136732C>G	ENST00000405460.2	+	78	17045	c.16949C>G	c.(16948-16950)aCc>aGc	p.T5650S	GPR98_ENST00000425867.2_Missense_Mutation_p.T1311S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5650					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGCTCCATACCATCAGCATG	0.408													C|||	28	0.00559105	0.0204	0.0014	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.0				p.T5650S		Atlas-SNP	.											.	GPR98	605	.	0			c.C16949G						PASS	.	C	SER/THR	47,3955		1,45,1955	75	75	75		16949	-6.1	0	5	dbSNP_129	75	1,8377		0,1,4188	yes	missense	GPR98	NM_032119.3	58	1,46,6143	GG,GC,CC		0.0119,1.1744,0.3877	benign	5650/6307	90136732	48,12332	2001	4189	6190	SO:0001583	missense	84059	exon78			TCCATACCATCAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16949C>G	5.37:g.90136732C>G	ENSP00000384582:p.Thr5650Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	C	1.382	-0.583061	0.03827	0.011744	1.19E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28069	1.63;1.63	6.16	-6.11	0.02131	.	0.807701	0.12567	N	0.457630	T	0.01454	0.0047	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33111	-0.9881	9	.	.	.	.	9.7985	0.40751	0.4619:0.4027:0.1354:0.0	rs61748627	1311;5650;1311	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5650;5650;1311	ENSP00000384582:T5650S;ENSP00000392618:T1311S	.	T	+	2	0	GPR98	90172488	0.001000	0.12720	0.001000	0.08648	0.233000	0.25261	-0.112000	0.10791	-0.739000	0.04809	-0.885000	0.02943	ACC	C|0.988;G|0.012	0.012	strong		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90136732	C	G	90136732	3	3	22	1	0	0	0	0	1	0	0	0	6721	507	18	4	17259	4	GPR98	5	90136732	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33245	90136732	90778528	3066	8174										
GPR98	84059	hgsc.bcm.edu	37	chr5	90445889	90445889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcattttacacaaccaaAtgtgttgccctatgaaggcc	6	10	1	1	rs77469944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:90445889A>G	ENST00000405460.2	+	88	18571	c.18475A>G	c.(18475-18477)Atg>Gtg	p.M6159V	GPR98_ENST00000425867.2_Missense_Mutation_p.M1820V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6159					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACACAACCAAATGTGTTGCCC	0.408													A|||	370	0.0738818	0.1732	0.0144	5008	,	,		16423	0.0516		0.003	False		,,,				2504	0.0777				p.M6159V		Atlas-SNP	.											.	GPR98	605	.	0			c.A18475G						PASS	.	A	VAL/MET	445,3291		31,383,1454	68	62	64		18475	4.7	0.1	5	dbSNP_131	64	17,8157		0,17,4070	yes	missense	GPR98	NM_032119.3	21	31,400,5524	GG,GA,AA		0.208,11.9111,3.8791	benign	6159/6307	90445889	462,11448	1868	4087	5955	SO:0001583	missense	84059	exon88			AACCAAATGTGTT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18475A>G	5.37:g.90445889A>G	ENSP00000384582:p.Met6159Val	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	90	48	0.533333	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	115	0.052655677655677656	88	0.17886178861788618	6	0.016574585635359115	19	0.033216783216783216	2	0.002638522427440633	A	10.67	1.414200	0.25465	0.119111	0.00208	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.20200	2.17;2.09	5.89	4.73	0.59995	.	0.294608	0.37483	N	0.002072	T	0.00039	0.0001	N	0.14661	0.345	0.52099	P	5.900000000003125E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.36065	-0.9763	8	.	.	.	.	7.6783	0.28499	0.6751:0.2482:0.0767:0.0	.	1820;6159;1820	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	6159;6159;1820	ENSP00000384582:M6159V;ENSP00000392618:M1820V	.	M	+	1	0	GPR98	90481645	1.000000	0.71417	0.111000	0.21465	0.712000	0.41017	3.387000	0.52501	1.049000	0.40321	0.533000	0.62120	ATG	A|0.957;G|0.043	0.043	strong		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90445889	A	G	90445889	3	3	22	1	0	0	0	0	1	0	0	0	6721	101	4	2	18825	2	GPR98	5	90445889	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	309157	90445889	90469371	3067	8175										
C5orf36	285600	hgsc.bcm.edu	37	chr5	93859799	93859799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctctttaatgcaatgttTtatgctataaaaaacagaag	5	5	1	1	rs2044909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:93859799T>C	ENST00000329378.7	-	4	385	c.136A>G	c.(136-138)Aaa>Gaa	p.K46E	KIAA0825_ENST00000427991.2_Missense_Mutation_p.K46E|KIAA0825_ENST00000513200.3_Missense_Mutation_p.K46E|KIAA0825_ENST00000312498.7_Missense_Mutation_p.K46E	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	46			K -> E (in dbSNP:rs2044909).							breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGCAATGTTTTATGCTATAA	0.343													C|||	576	0.115016	0.4191	0.0259	5008	,	,		16738	0.0		0.002	False		,,,				2504	0.002				p.K46E		Atlas-SNP	.											.	KIAA0825	172	.	0			c.A136G						PASS	.	C	GLU/LYS,GLU/LYS	1537,2869	660.6+/-400.8	289,959,955	83	81	82		136,136	3.3	1	5	dbSNP_94	82	18,8580	815.0+/-407.0	0,18,4281	yes	missense,missense	KIAA0825	NM_001145678.1,NM_173665.2	56,56	289,977,5236	CC,CT,TT		0.2094,34.8842,11.9579	benign,benign	46/1276,46/325	93859799	1555,11449	2203	4299	6502	SO:0001583	missense	285600	exon4			AATGTTTTATGCT	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.136A>G	5.37:g.93859799T>C	ENSP00000331385:p.Lys46Glu	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	131	72	0.549618	NM_173665	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	212	0.09706959706959707	201	0.40853658536585363	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	C	3.832	-0.035545	0.07497	0.348842	0.002094	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;T;T	0.33438	1.46;1.46;1.41;1.5	5.19	3.27	0.37495	.	0.594717	0.18816	N	0.130398	T	0.00012	0.0000	N	0.00500	-1.43	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46275	-0.9203	9	0.02654	T	1	.	7.5589	0.27839	0.0:0.7066:0.1384:0.155	rs2044909;rs52823349;rs60449612;rs2044909	46;46	Q8IV33;Q8IV33-2	K0825_HUMAN;.	E	46	ENSP00000424618:K46E;ENSP00000400288:K46E;ENSP00000312205:K46E;ENSP00000331385:K46E	ENSP00000312205:K46E	K	-	1	0	KIAA0825	93885555	0.953000	0.32496	1.000000	0.80357	0.948000	0.59901	0.824000	0.27379	1.339000	0.45563	-0.128000	0.14901	AAA	T|0.874;C|0.126	0.126	strong		0.343	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		C	93859799	T	C	93859799	3	2	22	1	0	0	0	0	1	0	0	0	2295	1850	64	2	3768	2	C5orf36	5	93859799	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3413910	93859799	87055461	3068	8176										
ARSK	153642	hgsc.bcm.edu	37	chr5	94936744	94936744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaaatatatagcctattcGgatggtgcatcaatattgcc	9	7	1	0	rs61733083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:94936744G>A	ENST00000380009.4	+	7	1495	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	430					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAGCCTATTCGGATGGTGCAT	0.383													G|||	47	0.00938498	0.034	0.0029	5008	,	,		20862	0.0		0.0	False		,,,				2504	0.0				p.S430S		Atlas-SNP	.											.	ARSK	29	.	0			c.G1290A						PASS	.	G		120,4286	88.7+/-127.4	0,120,2083	125	119	121		1290	-1.4	0.7	5	dbSNP_129	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARSK	NM_198150.2		0,121,6382	AA,AG,GG		0.0116,2.7236,0.9303		430/537	94936744	121,12885	2203	4300	6503	SO:0001819	synonymous_variant	153642	exon7			CTATTCGGATGGT		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1290G>A	5.37:g.94936744G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	130	56	0.430769	NM_198150	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	CCDS4073.1																																																																																			G|0.990;A|0.010	0.010	strong		0.383	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		A	94936744	G	A	94936744	2	1	22	1	0	0	0	0	0	0	0	1	996	1103	39	1		1	ARSK	5	94936744	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1076945	94936744	85978516	3069	8177										
GPR150	285601	hgsc.bcm.edu	37	chr5	94957071	94957071	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgactgccggctccggcgAcagctgcggaagcggctggg	19	13	0	0	rs375018988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:94957071A>T	ENST00000380007.2	+	1	1290	c.1092A>T	c.(1090-1092)cgA>cgT	p.R364R		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGCTCCGGCGACAGCTGCGGA	0.726													A|||	3	0.000599042	0.0023	0.0	5008	,	,		12900	0.0		0.0	False		,,,				2504	0.0				p.R364R		Atlas-SNP	.											.	GPR150	7	.	0			c.A1092T						PASS	.	A		12,3928		0,12,1958	4	6	5		1092	2.7	0.3	5		5	0,7982		0,0,3991	no	coding-synonymous	GPR150	NM_199243.1		0,12,5949	TT,TA,AA		0.0,0.3046,0.1007		364/435	94957071	12,11910	1970	3991	5961	SO:0001819	synonymous_variant	285601	exon1			CCGGCGACAGCTG	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"GPCR / Class A : Orphans"	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.1092A>T	5.37:g.94957071A>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	21	14	0.666667	NM_199243		Silent	SNP	ENST00000380007.2	37	CCDS4074.1																																																																																			.	.	weak		0.726	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			T	94957071	A	T	94957071	2	4	22	1	0	0	0	0	0	0	0	1	6656	262	10	5		5	GPR150	5	94957071	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20327	94957071	85958189	3070	8178										
SPATA9	83890	hgsc.bcm.edu	37	chr5	95011166	95011166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaacttccctcagcagacGaccagatatgtcccttagct	6	13	1	2	rs140676515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:95011166G>A	ENST00000274432.8	-	3	469	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	SPATA9_ENST00000395899.3_Missense_Mutation_p.R110C|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTCAGCAGACGACCAGATATG	0.433													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18649	0.0		0.0	False		,,,				2504	0.0				p.R110C		Atlas-SNP	.											SPATA9,NS,carcinoma,+1,1	SPATA9	17	1	0			c.C328T						scavenged	.	G	CYS/ARG	29,4377	35.2+/-66.4	0,29,2174	133	113	120		328	3.9	0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	SPATA9	NM_031952.3	180	0,29,6474	AA,AG,GG		0.0,0.6582,0.223	probably-damaging	110/255	95011166	29,12977	2203	4300	6503	SO:0001583	missense	83890	exon3			GCAGACGACCAGA	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.328C>T	5.37:g.95011166G>A	ENSP00000274432:p.Arg110Cys	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	137	63	0.459854	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.73	2.024694	0.35701	0.006582	0.0	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.31510	1.49	4.76	3.88	0.44766	.	0.000000	0.51477	D	0.000082	T	0.26448	0.0646	L	0.27053	0.805	0.19300	N	0.999974	D	0.67145	0.996	P	0.57371	0.819	T	0.05818	-1.0862	10	0.87932	D	0	-8.0846	10.6281	0.45519	0.0:0.0:0.8093:0.1907	.	110	Q9BWV2	SPAT9_HUMAN	C	110	ENSP00000274432:R110C	ENSP00000274432:R110C	R	-	1	0	SPATA9	95036922	0.074000	0.21230	0.029000	0.17559	0.011000	0.07611	1.948000	0.40303	1.329000	0.45376	0.655000	0.94253	CGT	G|0.998;A|0.002	0.002	strong		0.433	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		A	95011166	G	A	95011166	3	1	22	1	0	0	0	0	1	0	0	0	15015	1058	37	1	448	1	SPATA9	5	95011166	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54095	95011166	85904094	3071	8179										
CAST	831	hgsc.bcm.edu	37	chr5	96082128	96082128	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacagattaaaaccagccaCggtaaatttttagccacagt	7	9	0	1	rs78054235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:96082128C>T	ENST00000341926.3	+	15	1196	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CAST_ENST00000508608.1_Splice_Site_p.T391M|CAST_ENST00000511049.1_Splice_Site_p.T331M|CAST_ENST00000359176.4_Splice_Site_p.T409M|CAST_ENST00000325674.7_Splice_Site_p.T393M|CAST_ENST00000508830.1_Splice_Site_p.T428M|CAST_ENST00000509903.1_Splice_Site_p.T310M|CAST_ENST00000395813.1_Splice_Site_p.T428M|CAST_ENST00000510756.1_Splice_Site_p.T406M|CAST_ENST00000504465.1_Splice_Site_p.T273M|CAST_ENST00000508579.1_Splice_Site_p.T60M|CAST_ENST00000309190.5_Splice_Site_p.T323M|CAST_ENST00000338252.3_Splice_Site_p.T332M|CAST_ENST00000395812.2_Splice_Site_p.T387M|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Splice_Site_p.T68M|CAST_ENST00000511782.1_Splice_Site_p.T331M			P20810	ICAL_HUMAN	calpastatin	345					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAACCAGCCACGGTAAATTTT	0.418													c|||	63	0.0125799	0.0454	0.0014	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.002				p.T387M		Atlas-SNP	.											.	CAST	58	.	0			c.C1160T						PASS	.	T	MET/THR,MET/THR,MET/THR	135,4271	98.0+/-136.7	2,131,2070	121	125	124		1160,995,968	1.3	1	5	dbSNP_131	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice,missense-near-splice,missense-near-splice	CAST	NM_001042440.2,NM_001190442.1,NM_173060.3	81,81,81	2,133,6368	TT,TC,CC		0.0233,3.064,1.0534	benign,benign,benign	387/751,332/696,323/687	96082128	137,12869	2203	4300	6503	SO:0001630	splice_region_variant	831	exon15			CAGCCACGGTAAA	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1035+1C>T	5.37:g.96082128C>T		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	225	112	0.497778	NM_001042440	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37		21|21	0.009615384615384616|0.009615384615384616	20|20	0.04065040650406504|0.04065040650406504	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	c|c	8.238|8.238	0.806130|0.806130	0.16467|0.16467	0.03064|0.03064	2.33E-4|2.33E-4	ENSG00000153113|ENSG00000153113	ENST00000437034|ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000503828;ENST00000515663	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.22743	.|2.24;2.24;1.94;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	6.17|6.17	1.3|1.3	0.21679|0.21679	.|.	.|0.548082	.|0.21244	.|N	.|0.077779	T|T	0.05731|0.05731	0.0150|0.0150	L|L	0.36672|0.36672	1.1|1.1	0.24426|0.24426	N|N	0.994593|0.994593	.|P;P;B;D;B;D;B;B;B;B;B;P;B;P;B;B;B	.|0.59767	.|0.867;0.79;0.366;0.962;0.43;0.986;0.132;0.055;0.178;0.284;0.055;0.84;0.245;0.741;0.451;0.378;0.178	.|B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.57057	.|0.345;0.199;0.108;0.417;0.21;0.812;0.131;0.021;0.057;0.1;0.061;0.234;0.058;0.287;0.066;0.058;0.197	T|T	0.03043|0.03043	-1.1079|-1.1079	5|10	.|0.46703	.|T	.|0.11	-0.1946|-0.1946	5.1484|5.1484	0.14996|0.14996	0.1336:0.5121:0.0:0.3543|0.1336:0.5121:0.0:0.3543	.|.	.|273;193;391;68;96;68;331;310;323;304;345;393;387;409;406;428;332	.|E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.|.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	W|M	97|332;428;393;428;409;393;387;406;391;345;331;323;345;273;310;331;60;60;68	.|ENSP00000343421:T332M;ENSP00000425721:T428M;ENSP00000422951:T393M;ENSP00000379158:T428M;ENSP00000352098:T409M;ENSP00000320319:T393M;ENSP00000379157:T387M;ENSP00000422176:T406M;ENSP00000422677:T391M;ENSP00000339914:T345M;ENSP00000421130:T331M;ENSP00000312523:T323M;ENSP00000422325:T345M;ENSP00000425670:T273M;ENSP00000426946:T310M;ENSP00000423638:T331M;ENSP00000425787:T60M;ENSP00000422807:T60M;ENSP00000422929:T68M	.|ENSP00000312523:T323M	R|T	+|+	1|2	2|0	CAST|CAST	96107884|96107884	0.001000|0.001000	0.12720|0.12720	0.998000|0.998000	0.56505|0.56505	0.117000|0.117000	0.20001|0.20001	-0.754000|-0.754000	0.04787|0.04787	0.168000|0.168000	0.19655|0.19655	-0.733000|-0.733000	0.03571|0.03571	CGG|ACG	C|0.988;T|0.012	0.012	strong		0.418	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	Missense_Mutation	T	96082128	C	T	96082128	5	4	22	1	0	0	0	0	0	0	1	0	2684	550	19	1	1473	1	CAST	5	96082128	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1070962	96082128	84833132	3072	8180										
CHD1	1105	hgsc.bcm.edu	37	chr5	98199204	98199204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaaacattgtctagtatgCtctagttgttctctttctga	6	7	4	1	rs161941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:98199204C>T	ENST00000284049.3	-	31	4484	c.4335G>A	c.(4333-4335)gaG>gaA	p.E1445E	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1445					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTCTAGTATGCTCTAGTTGTT	0.338													T|||	1484	0.296326	0.6082	0.2363	5008	,	,		15783	0.0427		0.2903	False		,,,				2504	0.1851				p.E1445E		Atlas-SNP	.											.	CHD1	137	.	0			c.G4335A						PASS	.	T		2367,2037	559.5+/-380.2	652,1063,487	96	102	100		4335	-6.7	0.8	5	dbSNP_79	100	2469,6129	692.1+/-404.6	355,1759,2185	no	coding-synonymous	CHD1	NM_001270.2		1007,2822,2672	TT,TC,CC		28.716,46.2534,37.1943		1445/1711	98199204	4836,8166	2202	4299	6501	SO:0001819	synonymous_variant	1105	exon31			AGTATGCTCTAGT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4335G>A	5.37:g.98199204C>T		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_001270	Q17RZ3	Silent	SNP	ENST00000284049.3	37	CCDS34204.1																																																																																			C|0.658;T|0.342	0.342	strong		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		T	98199204	C	T	98199204	2	4	22	1	0	0	0	0	0	0	0	1	3323	796	28	2		2	CHD1	5	98199204	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2117076	98199204	82716056	3073	8181										
FAM174A	345757	hgsc.bcm.edu	37	chr5	99897880	99897880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacacgttgtttgatgccaAtcatcctcgaaggtaagtat	8	9	1	1	rs76060686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:99897880A>G	ENST00000312637.4	+	2	783	c.557A>G	c.(556-558)aAt>aGt	p.N186S	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	186						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTGATGCCAATCATCCTCGA	0.368													A|||	19	0.00379393	0.0144	0.0	5008	,	,		14171	0.0		0.0	False		,,,				2504	0.0				p.N186S		Atlas-SNP	.											.	FAM174A	13	.	0			c.A557G						PASS	.	A	SER/ASN	98,4308	78.3+/-116.7	1,96,2106	143	131	135		557	2.8	1	5	dbSNP_131	135	0,8600		0,0,4300	yes	missense	FAM174A	NM_198507.1	46	1,96,6406	GG,GA,AA		0.0,2.2242,0.7535	benign	186/191	99897880	98,12908	2203	4300	6503	SO:0001583	missense	345757	exon2			ATGCCAATCATCC	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.557A>G	5.37:g.99897880A>G	ENSP00000307954:p.Asn186Ser	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	242	117	0.483471	NM_198507	A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	37	CCDS4090.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	A	12.69	2.014664	0.35511	0.022242	0.0	ENSG00000174132	ENST00000312637	T	0.50548	0.74	5.21	2.81	0.32909	.	0.211018	0.31145	N	0.008177	T	0.14700	0.0355	L	0.35644	1.08	0.35327	D	0.785245	B	0.31989	0.35	B	0.35655	0.207	T	0.20974	-1.0259	9	.	.	.	-11.1789	8.0143	0.30372	0.8295:0.0:0.1705:0.0	.	186	Q8TBP5	F174A_HUMAN	S	186	ENSP00000307954:N186S	.	N	+	2	0	FAM174A	99925779	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.898000	0.39809	0.319000	0.23209	0.383000	0.25322	AAT	A|0.992;G|0.008	0.008	strong		0.368	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		G	99897880	A	G	99897880	3	3	22	1	0	0	0	0	1	0	0	0	5495	101	4	2	563	2	FAM174A	5	99897880	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1698676	99897880	81017380	3074	8182										
SLCO6A1	133482	hgsc.bcm.edu	37	chr5	101748741	101748741	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtacaccctgcaaagcaggGagaaaaatattcaatatcat	7	8	2	1	rs10073333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:101748741G>C	ENST00000506729.1	-	9	1750	c.1579C>G	c.(1579-1581)Ccc>Gcc	p.P527A	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P465A|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P274A|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P527A|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P274A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	527	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.		P -> A (in dbSNP:rs10073333).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAAAGCAGGGAGAAAAATAT	0.289													G|||	370	0.0738818	0.1172	0.1052	5008	,	,		11914	0.0159		0.0736	False		,,,				2504	0.0532				p.P527A		Atlas-SNP	.											.	SLCO6A1	153	.	0			c.C1579G						PASS	.	G	ALA/PRO	430,3968	182.2+/-210.1	23,384,1792	29	30	30		1579	2.5	1	5	dbSNP_119	30	510,8082	138.1+/-194.9	17,476,3803	yes	missense	SLCO6A1	NM_173488.3	27	40,860,5595	CC,CG,GG		5.9358,9.7772,7.2363	probably-damaging	527/720	101748741	940,12050	2199	4296	6495	SO:0001583	missense	133482	exon9			AGCAGGGAGAAAA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1579C>G	5.37:g.101748741G>C	ENSP00000421339:p.Pro527Ala	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	161	85	0.52795	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	173	0.07921245421245421	57	0.11585365853658537	45	0.12430939226519337	13	0.022727272727272728	58	0.07651715039577836	G	13.67	2.305522	0.40795	0.097772	0.059358	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75	5.25	2.48	0.30137	Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.421858	0.22619	N	0.057724	T	0.00178	0.0005	L	0.50333	1.59	0.25923	P	0.9830903	D;P;D	0.69078	0.976;0.872;0.997	P;P;D	0.66716	0.797;0.888;0.946	T	0.25950	-1.0117	9	0.29301	T	0.29	.	6.2915	0.21063	0.1674:0.1526:0.68:0.0	rs10073333;rs10073333	465;274;527	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	A	527;527;465;274;274	ENSP00000421339:P527A;ENSP00000369135:P527A;ENSP00000373671:P465A;ENSP00000421990:P274A;ENSP00000369138:P274A	ENSP00000369135:P527A	P	-	1	0	SLCO6A1	101776640	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	1.692000	0.37731	0.348000	0.23949	0.655000	0.94253	CCC	G|0.932;C|0.068	0.068	strong		0.289	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		C	101748741	G	C	101748741	3	2	22	1	0	0	0	0	1	0	0	0	14732	1174	41	4	600	4	SLCO6A1	5	101748741	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1850861	101748741	79166519	3075	8183										
C5orf30	90355	hgsc.bcm.edu	37	chr5	102612166	102612166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatcaaggagccagctgaTacagaagtgctacagtacca	10	9	1	3	rs17155192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:102612166T>C	ENST00000319933.2	+	3	854	c.546T>C	c.(544-546)gaT>gaC	p.D182D	C5orf30_ENST00000510890.1_Silent_p.D182D|C5orf30_ENST00000515669.1_Silent_p.D182D	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	182					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AGCCAGCTGATACAGAAGTGC	0.458													C|||	335	0.066893	0.2383	0.0159	5008	,	,		18507	0.0		0.008	False		,,,				2504	0.001				p.D182D		Atlas-SNP	.											.	C5orf30	18	.	0			c.T546C						PASS	.	C		942,3460	692.5+/-405.5	100,742,1359	50	53	52		546	4.4	1	5	dbSNP_123	52	96,8504	808.2+/-407.2	1,94,4205	no	coding-synonymous	C5orf30	NM_033211.2		101,836,5564	CC,CT,TT		1.1163,21.3994,7.9834		182/207	102612166	1038,11964	2201	4300	6501	SO:0001819	synonymous_variant	90355	exon3			AGCTGATACAGAA		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.546T>C	5.37:g.102612166T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	108	45	0.416667	NM_033211		Silent	SNP	ENST00000319933.2	37	CCDS4095.1																																																																																			T|0.926;C|0.074	0.074	strong		0.458	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		C	102612166	T	C	102612166	2	2	22	1	0	0	0	0	0	0	0	1	2290	1403	49	2		2	C5orf30	5	102612166	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	863425	102612166	78303094	3076	8184										
FBXL17	64839	hgsc.bcm.edu	37	chr5	107197502	107197502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttgcagtcctgcaggacGgtgctgaaggtgatgtgggg	17	8	1	2	rs34990078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:107197502G>A	ENST00000542267.1	-	9	2431	c.2025C>T	c.(2023-2025)acC>acT	p.T675T	FBXL17_ENST00000359660.5_Silent_p.T277T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	675										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CCTGCAGGACGGTGCTGAAGG	0.587													G|||	778	0.155351	0.1036	0.111	5008	,	,		18355	0.1448		0.2087	False		,,,				2504	0.2127				p.T675T		Atlas-SNP	.											FBXL17_ENST00000542267,colon,carcinoma,-2,2	FBXL17	60	2	0			c.C2025T						PASS	.	G		590,3814	259.8+/-263.3	45,500,1657	127	92	104		2025	-8.1	1	5	dbSNP_126	104	1677,6923	308.0+/-308.7	166,1345,2789	no	coding-synonymous	FBXL17	NM_001163315.2		211,1845,4446	AA,AG,GG		19.5,13.3969,17.4331		675/702	107197502	2267,10737	2202	4300	6502	SO:0001819	synonymous_variant	64839	exon9			CAGGACGGTGCTG	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.2025C>T	5.37:g.107197502G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	47	0.5875	NM_001163315	A1A4E3	Silent	SNP	ENST00000542267.1	37	CCDS54886.1																																																																																			G|0.826;A|0.174	0.174	strong		0.587	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	107197502	G	A	107197502	2	1	22	1	0	0	0	0	0	0	0	1	5713	1103	39	1		1	FBXL17	5	107197502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4585336	107197502	73717758	3077	8185										
FER	2241	hgsc.bcm.edu	37	chr5	108281862	108281862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctatccaaatttgaatCtattcgtcattcaattgctg	7	8	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:108281862C>T	ENST00000281092.4	+	11	1652	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	FER_ENST00000536402.1_Silent_p.L319L|FER_ENST00000438717.2_Missense_Mutation_p.S248F	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	423					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAATTTGAATCTATTCGTCAT	0.373																																					p.S423F	Colon(146;1051 1799 9836 27344 47401)	Atlas-SNP	.											.	FER	100	.	0			c.C1268T						PASS	.						129	134	132					5																	108281862		2202	4300	6502	SO:0001583	missense	2241	exon11			TTGAATCTATTCG	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1268C>T	5.37:g.108281862C>T	ENSP00000281092:p.Ser423Phe	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	70	4	0.0571429	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859764	0.71834	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.75367	-0.92;-0.93	5.45	5.45	0.79879	.	0.045955	0.85682	D	0.000000	T	0.68842	0.3045	N	0.22421	0.69	0.49213	D	0.999767	P	0.37955	0.612	B	0.41088	0.347	T	0.72261	-0.4345	10	0.66056	D	0.02	-12.8969	19.6346	0.95724	0.0:1.0:0.0:0.0	.	423	P16591	FER_HUMAN	F	423;248	ENSP00000281092:S423F;ENSP00000394297:S248F	ENSP00000281092:S423F	S	+	2	0	FER	108309761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.910000	0.75741	2.720000	0.93068	0.491000	0.48974	TCT	.	.	none		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		T	108281862	C	T	108281862	3	4	22	1	0	0	0	0	1	0	0	0	5813	913	32	2	1302	2	FER	5	108281862	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1084360	108281862	72633398	3078	8186										
FER	2241	hgsc.bcm.edu	37	chr5	108294979	108294979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacattcctcaacttatagaTcatcactatacaacaaaaca	1	11	3	1	rs34869483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:108294979T>C	ENST00000281092.4	+	13	1971	c.1587T>C	c.(1585-1587)gaT>gaC	p.D529D	FER_ENST00000438717.2_Silent_p.D354D|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	529	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AACTTATAGATCATCACTATA	0.363													T|||	30	0.00599042	0.0015	0.0043	5008	,	,		15833	0.0		0.0119	False		,,,				2504	0.0133				p.D529D	Colon(146;1051 1799 9836 27344 47401)	Atlas-SNP	.											.	FER	100	.	0			c.T1587C						PASS	.	T		14,4390	21.2+/-45.6	0,14,2188	138	131	133		1587	-7.7	0.9	5	dbSNP_126	133	193,8405	84.8+/-147.2	4,185,4110	no	coding-synonymous	FER	NM_005246.2		4,199,6298	CC,CT,TT		2.2447,0.3179,1.5921		529/823	108294979	207,12795	2202	4299	6501	SO:0001819	synonymous_variant	2241	exon13			TATAGATCATCAC	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1587T>C	5.37:g.108294979T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	112	44	0.392857	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																			T|0.988;C|0.012	0.012	strong		0.363	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		C	108294979	T	C	108294979	2	2	22	1	0	0	0	0	0	0	0	1	5813	1432	50	2		2	FER	5	108294979	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13117	108294979	72620281	3079	8187										
SLC25A46	91137	hgsc.bcm.edu	37	chr5	110097208	110097208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgccagtctttgttctgAcgttatactttacccattgg	8	10	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:110097208A>G	ENST00000355943.3	+	8	1109	c.983A>G	c.(982-984)gAc>gGc	p.D328G	SLC25A46_ENST00000509432.1_Missense_Mutation_p.D115G|SLC25A46_ENST00000513807.1_Missense_Mutation_p.D166G|SLC25A46_ENST00000509442.2_Missense_Mutation_p.D237G|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.D247G|SLC25A46_ENST00000504098.1_Missense_Mutation_p.D182G	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CTTTGTTCTGACGTTATACTT	0.428																																					p.D328G		Atlas-SNP	.											SLC25A46,NS,carcinoma,-1,1	SLC25A46	33	1	0			c.A983G						scavenged	.						290	279	283					5																	110097208		2202	4300	6502	SO:0001583	missense	91137	exon8			GTTCTGACGTTAT	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.983A>G	5.37:g.110097208A>G	ENSP00000348211:p.Asp328Gly	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	107	3	0.0280374	NM_138773	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896300	0.72639	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.51	4.31	0.51392	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82678	-0.0338	10	0.72032	D	0.01	-14.5613	12.4675	0.55768	0.86:0.14:0.0:0.0	.	237;328	B4DY98;Q96AG3	.;S2546_HUMAN	G	166;237;328;182;247;182;115	ENSP00000421134:D166G;ENSP00000424136:D237G;ENSP00000348211:D328G;ENSP00000399717:D247G;ENSP00000425708:D182G;ENSP00000426604:D115G	ENSP00000348211:D328G	D	+	2	0	SLC25A46	110125107	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	8.417000	0.90247	0.873000	0.35799	0.528000	0.53228	GAC	.	.	none		0.428	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		G	110097208	A	G	110097208	3	3	22	1	0	0	0	0	1	0	0	0	14511	275	10	2	1013	2	SLC25A46	5	110097208	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1802229	110097208	70818052	3080	8188										
WDR36	134430	hgsc.bcm.edu	37	chr5	110432841	110432841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattagtctttgctgcttaTggaaatgttttctctgcatt	8	6	2	1	rs17132775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:110432841T>C	ENST00000513710.2	+	3	427	c.423T>C	c.(421-423)taT>taC	p.Y141Y	WDR36_ENST00000505303.1_Silent_p.Y85Y|WDR36_ENST00000506538.2_Silent_p.Y141Y			Q8NI36	WDR36_HUMAN	WD repeat domain 36	141					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTGCTGCTTATGGAAATGTTT	0.388													T|||	212	0.0423323	0.1558	0.0072	5008	,	,		15681	0.0		0.001	False		,,,				2504	0.0				p.Y141Y		Atlas-SNP	.											.	WDR36	111	.	0			c.T423C						PASS	.	T		647,3757	277.5+/-273.7	44,559,1599	179	171	174		423	2	1	5	dbSNP_123	174	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	WDR36	NM_139281.2		44,567,5891	CC,CT,TT		0.093,14.6912,5.0369		141/952	110432841	655,12349	2202	4300	6502	SO:0001819	synonymous_variant	134430	exon3			TGCTTATGGAAAT	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.423T>C	5.37:g.110432841T>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	CCDS4102.1																																																																																			T|0.951;C|0.049	0.049	strong		0.388	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		C	110432841	T	C	110432841	2	2	22	1	0	0	0	0	0	0	0	1	17287	1471	51	2		2	WDR36	5	110432841	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	335633	110432841	70482419	3081	8189										
CAMK4	814	hgsc.bcm.edu	37	chr5	110820116	110820116	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagggcaaggaagctctgcTgtgggttttgaagttccaca	14	7	1	1	rs6886469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:110820116T>G	ENST00000282356.4	+	11	1772	c.1374T>G	c.(1372-1374)gcT>gcG	p.A458A	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.A458A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	458					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAAGCTCTGCTGTGGGTTTTG	0.512													T|||	46	0.0091853	0.034	0.0014	5008	,	,		19121	0.0		0.0	False		,,,				2504	0.0				p.A458A		Atlas-SNP	.											.	CAMK4	77	.	0			c.T1374G						PASS	.	T		114,4290	87.3+/-125.9	3,108,2091	47	47	47		1374	-3.5	0	5	dbSNP_116	47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CAMK4	NM_001744.4		3,110,6389	GG,GT,TT		0.0233,2.5886,0.892		458/474	110820116	116,12888	2202	4300	6502	SO:0001819	synonymous_variant	814	exon11			CTCTGCTGTGGGT	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1374T>G	5.37:g.110820116T>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	69	40	0.57971	NM_001744	D3DSZ7	Silent	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																			T|0.991;G|0.009	0.009	strong		0.512	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		G	110820116	T	G	110820116	2	3	22	1	0	0	0	0	0	0	0	1	2605	1567	55	5		5	CAMK4	5	110820116	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	387275	110820116	70095144	3082	8190										
APC	324	hgsc.bcm.edu	37	chr5	112175240	112175240	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattggaactaggtcagctGaagatcctgtgagcgaagtt	13	6	1	4	rs1801166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112175240G>C	ENST00000457016.1	+	16	4329	c.3949G>C	c.(3949-3951)Gaa>Caa	p.E1317Q	APC_ENST00000257430.4_Missense_Mutation_p.E1317Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1317Q			P25054	APC_HUMAN	adenomatous polyposis coli	1317	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		E -> Q (may contribute to colorectal tumor development; dbSNP:rs1801166). {ECO:0000269|PubMed:9724771}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1317Q(5)|p.E1317*(3)|p.E1317fs*4(3)|p.?(1)|p.K1192fs*3(1)|p.A1316fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGGTCAGCTGAAGATCCTGT	0.438		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			G|||	15	0.00299521	0.003	0.0029	5008	,	,		21730	0.0		0.006	False		,,,				2504	0.0031				p.E1317Q	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,bladder,carcinoma,0,14	APC	4158	14	14	Substitution - Missense(5)|Deletion - Frameshift(5)|Substitution - Nonsense(3)|Unknown(1)	large_intestine(9)|stomach(1)|soft_tissue(1)|urinary_tract(1)|lung(1)|skin(1)	c.G3949C	GRCh37	CM980089	APC	M	rs1801166	PASS	.	G	GLN/GLU,GLN/GLU,GLN/GLU	28,4376	33.5+/-64.1	0,28,2174	60	61	61	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3949,3949,3895	5.2	0.7	5	dbSNP_89	61	80,8520	46.3+/-105.2	1,78,4221	yes	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	29,29,29	1,106,6395	CC,CG,GG		0.9302,0.6358,0.8305	benign,benign,benign	1317/2844,1317/2844,1299/2826	112175240	108,12896	2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	TCAGCTGAAGATC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3949G>C	5.37:g.112175240G>C	ENSP00000413133:p.Glu1317Gln	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	162	54	0.333333	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	8	0.003663003663003663	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	9.512	1.105897	0.20632	0.006358	0.009302	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90324	-2.65;-2.65;-2.65	6.03	5.15	0.70609	.	0.502603	0.24048	N	0.042028	T	0.80325	0.4602	N	0.24115	0.695	0.37326	A	0.90977	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.79045	-0.1964	8	.	.	.	-16.8737	17.2207	0.86956	0.0:0.1257:0.8742:0.0	rs1801166;rs52811293	1319;1317	Q4LE70;P25054	.;APC_HUMAN	Q	1317	ENSP00000413133:E1317Q;ENSP00000257430:E1317Q;ENSP00000427089:E1317Q	.	E	+	1	0	APC	112203139	1.000000	0.71417	0.685000	0.30070	0.277000	0.26821	6.359000	0.73060	1.533000	0.49186	0.655000	0.94253	GAA	G|0.992;C|0.008	0.008	strong		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		C	112175240	G	C	112175240	3	2	22	1	0	0	0	0	1	0	0	0	763	1291	45	4	4007	4	APC	5	112175240	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1355124	112175240	68740020	3083	8191										
APC	324	hgsc.bcm.edu	37	chr5	112176556	112176556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtccagcaagcatctgcGtcttcttctgcacccaacaa	7	15	4	0	rs34506289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112176556G>A	ENST00000457016.1	+	16	5645	c.5265G>A	c.(5263-5265)gcG>gcA	p.A1755A	APC_ENST00000257430.4_Silent_p.A1755A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.A1755A			P25054	APC_HUMAN	adenomatous polyposis coli	1755	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGCATCTGCGTCTTCTTCTG	0.398		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			G|||	21	0.00419329	0.0068	0.0029	5008	,	,		19623	0.001		0.006	False		,,,				2504	0.0031				p.A1755A	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	.	APC	4158	.	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	c.G5265A						PASS	.	G	,,	43,4361	44.6+/-78.6	0,43,2159	56	55	56		5265,5265,5211	1.6	0	5	dbSNP_126	56	79,8517	43.6+/-101.6	1,77,4220	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	1,120,6379	AA,AG,GG		0.919,0.9764,0.9385	,,	1755/2844,1755/2844,1737/2826	112176556	122,12878	2202	4298	6500	SO:0001819	synonymous_variant	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ATCTGCGTCTTCT	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5265G>A	5.37:g.112176556G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	109	41	0.376147	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																			G|0.992;A|0.008	0.008	strong		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112176556	G	A	112176556	2	1	22	1	0	0	0	0	0	0	0	1	763	1132	40	1		1	APC	5	112176556	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1316	112176556	68738704	3084	8192										
MCC	4163	hgsc.bcm.edu	37	chr5	112406862	112406862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagcatgctcatcctctcGgcattgcttttacattcctc	5	15	2	0	rs2227950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112406862G>A	ENST00000302475.4	-	10	1847	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	MCC_ENST00000515367.2_Silent_p.A365A|MCC_ENST00000408903.3_Silent_p.A618A|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	428					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A618A(1)|p.A428A(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCATCCTCTCGGCATTGCTTT	0.483													G|||	1671	0.333666	0.354	0.2853	5008	,	,		19595	0.3462		0.3151	False		,,,				2504	0.3466				p.A618A		Atlas-SNP	.											MCC_ENST00000408903,colon,carcinoma,-1,4	MCC	234	4	2	Substitution - coding silent(2)	stomach(2)	c.C1854T						PASS	.	G	,	1380,3024	455.1+/-350.9	223,934,1045	265	221	236		1854,1284	-9.4	0.1	5	dbSNP_98	236	2825,5775	446.1+/-361.2	460,1905,1935	no	coding-synonymous,coding-synonymous	MCC	NM_001085377.1,NM_002387.2	,	683,2839,2980	AA,AG,GG		32.8488,31.3351,32.3362	,	618/1020,428/830	112406862	4205,8799	2202	4300	6502	SO:0001819	synonymous_variant	4163	exon12			CCTCTCGGCATTG		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1284C>T	5.37:g.112406862G>A		Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	231	229	0.991342	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																			T|0.062;G|0.554;C|0.125;A|0.259	0.259	strong		0.483	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		A	112406862	G	A	112406862	2	1	22	1	0	0	0	0	0	0	0	1	9373	1103	39	1		1	MCC	5	112406862	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	230306	112406862	68508398	3085	8193										
MCC	4163	hgsc.bcm.edu	37	chr5	112437438	112437438	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatgcagcatgctcacccTcctccggagccggtcccgct	11	17	1	0	rs62374708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112437438T>G	ENST00000302475.4	-	6	1389	c.826A>C	c.(826-828)Agg>Cgg	p.R276R	MCC_ENST00000515367.2_Silent_p.R213R|MCC_ENST00000408903.3_Silent_p.R466R|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	276					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGCTCACCCTCCTCCGGAGC	0.587													T|||	378	0.0754792	0.2315	0.0144	5008	,	,		16935	0.0417		0.0119	False		,,,				2504	0.0082				p.R466R		Atlas-SNP	.											MCC_ENST00000408903,NS,carcinoma,+1,2	MCC	234	2	0			c.A1396C						PASS	.	T	,	852,3552	334.4+/-303.4	86,680,1436	95	90	92		1396,826	0.2	1	5	dbSNP_129	92	93,8507	51.1+/-111.2	1,91,4208	no	coding-synonymous,coding-synonymous	MCC	NM_001085377.1,NM_002387.2	,	87,771,5644	GG,GT,TT		1.0814,19.346,7.267	,	466/1020,276/830	112437438	945,12059	2202	4300	6502	SO:0001819	synonymous_variant	4163	exon8			TCACCCTCCTCCG		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.826A>C	5.37:g.112437438T>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	55	29	0.527273	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																			T|0.933;G|0.067	0.067	strong		0.587	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		G	112437438	T	G	112437438	2	3	22	1	0	0	0	0	0	0	0	1	9373	1550	54	5		5	MCC	5	112437438	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30576	112437438	68477822	3086	8194										
TSSK1B	83942	hgsc.bcm.edu	37	chr5	112770054	112770054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaccactgtcatcccgcagGcagcgcttggagaagctgaa	12	13	1	2	rs111560230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112770054G>A	ENST00000390666.3	-	1	674	c.483C>T	c.(481-483)tgC>tgT	p.C161C	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CATCCCGCAGGCAGCGCTTGG	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21131	0.0		0.0	False		,,,				2504	0.0				p.C161C		Atlas-SNP	.											.	TSSK1B	89	.	0			c.C483T						PASS	.	G	,	2,4402	4.2+/-10.8	0,2,2200	81	77	78		,483	1.2	1	5	dbSNP_132	78	0,8600		0,0,4300	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,	,161/368	112770054	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	83942	exon1			CCGCAGGCAGCGC	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.483C>T	5.37:g.112770054G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_032028	B2R8D9	Silent	SNP	ENST00000390666.3	37	CCDS4112.1																																																																																			G|0.500;A|0.500	0.500	strong		0.577	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		A	112770054	G	A	112770054	2	1	22	1	0	0	0	0	0	0	0	1	16665	1195	42	2		2	TSSK1B	5	112770054	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	332616	112770054	68145206	3087	8195										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112871458	112871458	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgccttggatgtaaatctCtttataagatattttggaag	9	5	1	1	rs77052070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112871458C>G	ENST00000161863.4	+	7	1278	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	YTHDC2_ENST00000515883.1_Silent_p.L355L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	355	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATGTAAATCTCTTTATAAGAT	0.279													C|||	63	0.0125799	0.0477	0.0	5008	,	,		17937	0.0		0.0	False		,,,				2504	0.0				p.L355L		Atlas-SNP	.											.	YTHDC2	118	.	0			c.C1065G						PASS	.	C		214,4190	128.6+/-165.4	2,210,1990	49	54	52		1065	-5.6	0.5	5	dbSNP_131	52	0,8594		0,0,4297	no	coding-synonymous	YTHDC2	NM_022828.3		2,210,6287	GG,GC,CC		0.0,4.8592,1.6464		355/1431	112871458	214,12784	2202	4297	6499	SO:0001819	synonymous_variant	64848	exon7			AAATCTCTTTATA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1065C>G	5.37:g.112871458C>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	109	41	0.376147	NM_022828	B2RP66	Silent	SNP	ENST00000161863.4	37	CCDS4113.1																																																																																			C|0.984;G|0.016	0.016	strong		0.279	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		G	112871458	C	G	112871458	2	3	22	1	0	0	0	0	0	0	0	1	17494	900	32	4		4	YTHDC2	5	112871458	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101404	112871458	68043802	3088	8196										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112888882	112888882	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttttttttttcagtgctAcactggaatttggaaatcta	6	5	2	0	rs72805422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112888882A>T	ENST00000161863.4	+	13	1906	c.1693A>T	c.(1693-1695)Aca>Tca	p.T565S	YTHDC2_ENST00000515883.1_Missense_Mutation_p.T565S	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	565					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		tttCAGTGCTACACTGGAATT	0.338													T|||	1644	0.328275	0.5968	0.4251	5008	,	,		11965	0.2083		0.1909	False		,,,				2504	0.1616				p.T565S		Atlas-SNP	.											.	YTHDC2	118	.	0			c.A1693T						PASS	.	T	SER/THR	2243,2061		604,1035,513	17	17	17		1693	5.7	1	5	dbSNP_130	17	1434,7012		137,1160,2926	yes	missense	YTHDC2	NM_022828.3	58	741,2195,3439	TT,TA,AA		16.9785,47.8857,28.8392	benign	565/1431	112888882	3677,9073	2152	4223	6375	SO:0001583	missense	64848	exon13			AGTGCTACACTGG	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1693A>T	5.37:g.112888882A>T	ENSP00000161863:p.Thr565Ser	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	23	10	0.434783	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	715	0.3273809523809524	314	0.6382113821138211	134	0.3701657458563536	123	0.21503496503496503	144	0.18997361477572558	T	5.005	0.186645	0.09547	0.521143	0.169785	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.63255	-0.03;-0.03	5.7	5.7	0.88788	Ankyrin repeat-containing domain (4);	0.087379	0.50627	N	0.000118	T	0.00012	0.0000	N	0.02802	-0.49	0.53688	P	2.2999999999995246E-5	B	0.06786	0.001	B	0.06405	0.002	T	0.40059	-0.9583	9	0.06757	T	0.87	.	12.3136	0.54942	0.127:0.0:0.0:0.873	.	565	Q9H6S0	YTDC2_HUMAN	S	565;565;475	ENSP00000161863:T565S;ENSP00000423101:T565S	ENSP00000161863:T565S	T	+	1	0	YTHDC2	112916781	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.364000	0.66110	0.986000	0.38683	-0.265000	0.10407	ACA	A|0.671;T|0.329	0.329	strong		0.338	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		T	112888882	A	T	112888882	3	4	22	1	0	0	0	0	1	0	0	0	17494	391	14	5	1743	5	YTHDC2	5	112888882	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17424	112888882	68026378	3089	8197										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112889374	112889374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacaagcggtttgctgacaGtacacataggtaagggctaa	12	7	0	2	rs10071816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112889374G>A	ENST00000161863.4	+	14	2168	c.1955G>A	c.(1954-1956)aGt>aAt	p.S652N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S652N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	652	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		S -> N (in dbSNP:rs10071816).		ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTTGCTGACAGTACACATAGG	0.398													A|||	1672	0.333866	0.6172	0.4265	5008	,	,		15678	0.2083		0.1909	False		,,,				2504	0.1616				p.S652N		Atlas-SNP	.											.	YTHDC2	118	.	0			c.G1955A						PASS	.	A	ASN/SER	2532,1872	539.9+/-375.4	746,1040,416	141	141	141		1955	1.6	0.2	5	dbSNP_119	141	1581,7019	743.6+/-407.2	140,1301,2859	yes	missense	YTHDC2	NM_022828.3	46	886,2341,3275	AA,AG,GG		18.3837,42.5068,31.6287	benign	652/1431	112889374	4113,8891	2202	4300	6502	SO:0001583	missense	64848	exon14			CTGACAGTACACA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1955G>A	5.37:g.112889374G>A	ENSP00000161863:p.Ser652Asn	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	101	59	0.584158	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	725	0.33195970695970695	324	0.6585365853658537	134	0.3701657458563536	123	0.21503496503496503	144	0.18997361477572558	A	0	-2.651789	0.00109	0.574932	0.183837	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06933	4.22;3.24	5.38	1.65	0.23941	Helicase, C-terminal (2);	0.343223	0.32836	N	0.005589	T	0.00012	0.0000	N	0.11927	0.2	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.42498	-0.9448	9	0.02654	T	1	.	12.1875	0.54247	0.7907:0.0:0.2093:0.0	rs10071816;rs57240370;rs10071816	652	Q9H6S0	YTDC2_HUMAN	N	652;652;562	ENSP00000161863:S652N;ENSP00000423101:S652N	ENSP00000161863:S652N	S	+	2	0	YTHDC2	112917273	0.970000	0.33590	0.154000	0.22540	0.067000	0.16453	1.347000	0.33975	-0.510000	0.06523	-2.276000	0.00273	AGT	G|0.681;A|0.319	0.319	strong		0.398	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		A	112889374	G	A	112889374	3	1	22	1	0	0	0	0	1	0	0	0	17494	1029	36	2	2009	2	YTHDC2	5	112889374	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	492	112889374	68025886	3090	8198										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112899702	112899702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccttacaattgcttgcacActagcttatcgagatccttt	5	11	0	1	rs6886628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:112899702A>G	ENST00000161863.4	+	20	2802	c.2589A>G	c.(2587-2589)acA>acG	p.T863T		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	863					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCTTGCACACTAGCTTATC	0.438													G|||	1662	0.331869	0.6165	0.4265	5008	,	,		15862	0.2004		0.1909	False		,,,				2504	0.1605				p.T863T		Atlas-SNP	.											.	YTHDC2	118	.	0			c.A2589G						PASS	.	G		2532,1872	540.5+/-375.5	747,1038,417	223	208	213		2589	-10.6	0	5	dbSNP_116	213	1580,7020	745.2+/-407.3	140,1300,2860	no	coding-synonymous	YTHDC2	NM_022828.3		887,2338,3277	GG,GA,AA		18.3721,42.5068,31.621		863/1431	112899702	4112,8892	2202	4300	6502	SO:0001819	synonymous_variant	64848	exon20			TTGCACACTAGCT	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2589A>G	5.37:g.112899702A>G		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	255	132	0.517647	NM_022828	B2RP66	Silent	SNP	ENST00000161863.4	37	CCDS4113.1																																																																																			A|0.681;G|0.319	0.319	strong		0.438	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		G	112899702	A	G	112899702	2	3	22	1	0	0	0	0	0	0	0	1	17494	146	6	2		2	YTHDC2	5	112899702	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10328	112899702	68015558	3091	8199										
TRIM36	55521	hgsc.bcm.edu	37	chr5	114480364	114480364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgattaccacccaacttacaCagatggcaaactggcctcct	6	14	0	2	rs7716270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:114480364C>T	ENST00000282369.3	-	4	823	c.702G>A	c.(700-702)ctG>ctA	p.L234L	TRIM36_ENST00000513154.1_Silent_p.L222L|TRIM36_ENST00000514154.1_Silent_p.L79L|TRIM36_ENST00000515104.1_5'Flank	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	234					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCAACTTACACAGATGGCAAA	0.378													T|||	1704	0.340256	0.5787	0.2896	5008	,	,		18668	0.4345		0.0785	False		,,,				2504	0.226				p.L234L		Atlas-SNP	.											.	TRIM36	126	.	0			c.G702A						PASS	.	T		2279,2125	577.0+/-384.4	608,1063,531	138	129	132		702	0.9	1	5	dbSNP_116	132	830,7770	781.4+/-407.6	42,746,3512	no	coding-synonymous	TRIM36	NM_018700.3		650,1809,4043	TT,TC,CC		9.6512,48.2516,23.908		234/729	114480364	3109,9895	2202	4300	6502	SO:0001819	synonymous_variant	55521	exon4			CTTACACAGATGG	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.702G>A	5.37:g.114480364C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	144	69	0.479167	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	CCDS4115.1																																																																																			C|0.732;T|0.268	0.268	strong		0.378	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		T	114480364	C	T	114480364	2	4	22	1	0	0	0	0	0	0	0	1	16507	465	17	2		2	TRIM36	5	114480364	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1580662	114480364	66434896	3092	8200										
TRIM36	55521	hgsc.bcm.edu	37	chr5	114482847	114482847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgatgaattttgaagcaTtcattgcagtaacttgcact	10	6	1	3	rs12109197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:114482847T>C	ENST00000282369.3	-	3	664	c.543A>G	c.(541-543)gaA>gaG	p.E181E	TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000513154.1_Silent_p.E169E|TRIM36_ENST00000514154.1_Silent_p.E26E|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	181					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTTGAAGCATTCATTGCAGT	0.418													T|||	13	0.00259585	0.0098	0.0	5008	,	,		20229	0.0		0.0	False		,,,				2504	0.0				p.E181E		Atlas-SNP	.											.	TRIM36	126	.	0			c.A543G						PASS	.	T		20,4384	27.2+/-55.0	0,20,2182	144	141	142		543	-5.5	0.5	5	dbSNP_120	142	0,8600		0,0,4300	no	coding-synonymous	TRIM36	NM_018700.3		0,20,6482	CC,CT,TT		0.0,0.4541,0.1538		181/729	114482847	20,12984	2202	4300	6502	SO:0001819	synonymous_variant	55521	exon3			GAAGCATTCATTG	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.543A>G	5.37:g.114482847T>C		Somatic	466	1	0.00214592		WXS	Illumina HiSeq	Phase_I	459	209	0.455338	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	CCDS4115.1																																																																																			T|0.998;C|0.002	0.002	strong		0.418	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		C	114482847	T	C	114482847	2	2	22	1	0	0	0	0	0	0	0	1	16507	1490	52	2		2	TRIM36	5	114482847	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2483	114482847	66432413	3093	8201										
COMMD10	51397	hgsc.bcm.edu	37	chr5	115428334	115428334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaagcatttgtcaatacGtggtcttctatgggtcaaga	11	7	4	2	rs1129494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:115428334G>T	ENST00000274458.4	+	4	398	c.336G>T	c.(334-336)acG>acT	p.T112T	COMMD10_ENST00000515539.1_Silent_p.T98T	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	112								p.T112T(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TTGTCAATACGTGGTCTTCTA	0.383													G|||	2213	0.441893	0.1725	0.5346	5008	,	,		18192	0.3849		0.66	False		,,,				2504	0.5746				p.T112T		Atlas-SNP	.											COMMD10,NS,carcinoma,0,1	COMMD10	18	1	1	Substitution - coding silent(1)	stomach(1)	c.G336T						PASS	.	G		1126,3278	399.7+/-331.3	152,822,1228	99	90	93		336	-4.6	0.1	5	dbSNP_86	93	5535,3065	660.6+/-401.8	1784,1967,549	no	coding-synonymous	COMMD10	NM_016144.2		1936,2789,1777	TT,TG,GG		35.6395,25.5677,48.7773		112/203	115428334	6661,6343	2202	4300	6502	SO:0001819	synonymous_variant	51397	exon4			CAATACGTGGTCT	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.336G>T	5.37:g.115428334G>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	36	0.367347	NM_016144	D3DT07|Q9P077	Silent	SNP	ENST00000274458.4	37	CCDS34215.1																																																																																			G|0.536;T|0.464	0.464	strong		0.383	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		T	115428334	G	T	115428334	2	4	22	1	0	0	0	0	0	0	0	1	3715	1132	40	4		4	COMMD10	5	115428334	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	945487	115428334	65486926	3094	8202										
COMMD10	51397	hgsc.bcm.edu	37	chr5	115428381	115428381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaaagttccggcagagaaTtctggctccctgtaaggtat	11	8	1	2	rs1129495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:115428381T>G	ENST00000274458.4	+	4	445	c.383T>G	c.(382-384)aTt>aGt	p.I128S	COMMD10_ENST00000515539.1_Missense_Mutation_p.I114S	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	128			I -> S (in dbSNP:rs1129495).							endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CGGCAGAGAATTCTGGCTCCC	0.333													T|||	714	0.142572	0.2753	0.0706	5008	,	,		18223	0.1736		0.0696	False		,,,				2504	0.0573				p.I128S		Atlas-SNP	.											.	COMMD10	18	.	0			c.T383G						PASS	.	T	SER/ILE	969,3435	364.9+/-317.2	112,745,1345	81	78	79		383	2.1	0.9	5	dbSNP_86	79	527,8073	148.9+/-204.1	17,493,3790	yes	missense	COMMD10	NM_016144.2	142	129,1238,5135	GG,GT,TT		6.1279,22.0027,11.5042	benign	128/203	115428381	1496,11508	2202	4300	6502	SO:0001583	missense	51397	exon4			AGAGAATTCTGGC	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.383T>G	5.37:g.115428381T>G	ENSP00000274458:p.Ile128Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	81	53	0.654321	NM_016144	D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	CCDS34215.1	307	0.14056776556776557	140	0.2845528455284553	22	0.06077348066298342	92	0.16083916083916083	53	0.06992084432717678	T	0.011	-1.699478	0.00725	0.220027	0.061279	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.06528	3.29;3.29;3.29	5.87	2.12	0.27331	.	0.196983	0.51477	D	0.000094	T	0.00012	0.0000	L	0.35414	1.06	0.33450	P	0.41641799999999995	B	0.22800	0.075	B	0.18263	0.021	T	0.47433	-0.9118	9	0.07175	T	0.84	-24.9333	6.6026	0.22708	0.0:0.1389:0.1305:0.7306	rs62652038	128	Q9Y6G5	COMDA_HUMAN	S	128;114;84	ENSP00000274458:I128S;ENSP00000427319:I114S;ENSP00000424611:I84S	ENSP00000274458:I128S	I	+	2	0	COMMD10	115456280	1.000000	0.71417	0.946000	0.38457	0.160000	0.22226	4.865000	0.62998	0.191000	0.20236	-0.250000	0.11733	ATT	T|0.876;G|0.124	0.124	strong		0.333	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		G	115428381	T	G	115428381	3	3	22	1	0	0	0	0	1	0	0	0	3715	1493	52	5	397	5	COMMD10	5	115428381	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47	115428381	65486879	3095	8203										
COMMD10	51397	hgsc.bcm.edu	37	chr5	115469773	115469773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcttttatagctagagacCgttggatggcagcttaacct	10	8	1	1	rs1129496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:115469773C>T	ENST00000274458.4	+	5	470	c.408C>T	c.(406-408)acC>acT	p.T136T	COMMD10_ENST00000515539.1_Silent_p.T122T	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	136	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.T136T(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		AGCTAGAGACCGTTGGATGGC	0.413													G|||	2166	0.432508	0.1415	0.536	5008	,	,		16338	0.3839		0.6571	False		,,,				2504	0.5716				p.T136T		Atlas-SNP	.											COMMD10,NS,carcinoma,0,1	COMMD10	18	1	1	Substitution - coding silent(1)	stomach(1)	c.C408T						PASS	.	G		996,3408		118,760,1324	107	88	95		408	-12	0.1	5	dbSNP_94	95	5526,3074		1780,1966,554	no	coding-synonymous	COMMD10	NM_016144.2		1898,2726,1878	TT,TC,CC		35.7442,22.6158,49.8462		136/203	115469773	6522,6482	2202	4300	6502	SO:0001819	synonymous_variant	51397	exon5			AGAGACCGTTGGA	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.408C>T	5.37:g.115469773C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	45	0.494505	NM_016144	D3DT07|Q9P077	Silent	SNP	ENST00000274458.4	37	CCDS34215.1																																																																																			C|0.523;T|0.477	0.477	strong		0.413	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		T	115469773	C	T	115469773	2	4	22	1	0	0	0	0	0	0	0	1	3715	639	23	1		1	COMMD10	5	115469773	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41392	115469773	65445487	3096	8204										
SEMA6A	57556	hgsc.bcm.edu	37	chr5	115827506	115827506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attccgctgaattcatccccGaatggttccaatgtatccat	6	12	1	1	rs34096390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:115827506G>A	ENST00000343348.6	-	7	1252	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SEMA6A_ENST00000257414.8_Silent_p.F155F|SEMA6A_ENST00000510263.1_Silent_p.F155F|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	155	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATTCATCCCCGAATGGTTCCA	0.418													G|||	155	0.0309505	0.1112	0.0086	5008	,	,		21381	0.0		0.002	False		,,,				2504	0.0				p.F155F		Atlas-SNP	.											SEMA6A,NS,carcinoma,-2,1	SEMA6A	93	1	0			c.C465T						scavenged	.	G		326,3528		20,286,1621	120	118	118		465	-12.2	0	5	dbSNP_126	118	3,8247		0,3,4122	no	coding-synonymous	SEMA6A	NM_020796.3		20,289,5743	AA,AG,GG		0.0364,8.4587,2.7181		155/1031	115827506	329,11775	1927	4125	6052	SO:0001819	synonymous_variant	57556	exon7			ATCCCCGAATGGT	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.465C>T	5.37:g.115827506G>A		Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	228	91	0.399123	NM_020796	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																			G|0.979;A|0.021	0.021	strong		0.418	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		A	115827506	G	A	115827506	2	1	22	1	0	0	0	0	0	0	0	1	14039	1049	37	1		1	SEMA6A	5	115827506	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	357733	115827506	65087754	3097	8205										
DMXL1	1657	hgsc.bcm.edu	37	chr5	118529595	118529597	+	In_Frame_Del	DEL	AAT	AAT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaagtgatgatgatgacAatgatgatgatgatgatgtt					rs200335120|rs374810198|rs146526208|rs150940354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:118529595_118529597delAAT	ENST00000311085.8	+	30	7467_7469	c.7387_7389delAAT	c.(7387-7389)aatdel	p.N2463del	DMXL1_ENST00000539542.1_In_Frame_Del_p.N2463del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2463	Poly-Asp.									breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		tgatgatgacaatgatgatgatg	0.315														32	0.00638978	0.0234	0.0014	5008	,	,		16171	0.0		0.0	False		,,,				2504	0.0				p.2462_2463del		Pindel,Atlas-Indel	.											.	DMXL1	268	.	0			c.7386_7388del						PASS	.			93,4171		1,91,2040						-10.3	0.2			98	1,8253		0,1,4126	no	coding	DMXL1	NM_005509.4		1,92,6166	A1A1,A1R,RR		0.0121,2.1811,0.7509				94,12424				SO:0001651	inframe_deletion	1657	exon30			.	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7387_7389delAAT	5.37:g.118529595_118529597delAAT	ENSP00000309690:p.Asn2463del	Somatic	52	.	.		WXS	Illumina HiSeq	Phase_I	55	10	0.182	NM_005509		In_Frame_Del	DEL	ENST00000311085.8	37	CCDS4125.1																																																																																			.	.	weak		0.315	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		-	118529597	AAT	-	118529595	7	5	22	1	0	1	0	1	0	0	0	0	4594	130	5	0	7505	0	DMXL1	5	118529595	In_Frame_Del	DEL	AAT	TCGA-G8-6324-01A-11D-2210-10	2702089	118529595	62385665	3098	8206										
HSD17B4	3295	hgsc.bcm.edu	37	chr5	118860938	118860938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaccgcctcagtggagacTggaatcccttacacattgat	9	11	1	2	rs11539471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:118860938T>C	ENST00000256216.6	+	18	1664	c.1531T>C	c.(1531-1533)Tgg>Cgg	p.W511R	HSD17B4_ENST00000504811.1_Missense_Mutation_p.W536R|HSD17B4_ENST00000510025.1_Missense_Mutation_p.W487R|HSD17B4_ENST00000515320.1_Missense_Mutation_p.W493R|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.W371R|HSD17B4_ENST00000509514.1_Missense_Mutation_p.W249R|HSD17B4_ENST00000513628.1_Missense_Mutation_p.W374R	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	511	(3R)-3-hydroxydecanoyl-CoA binding. {ECO:0000250}.|Enoyl-CoA hydratase 2.|MaoC-like.		W -> R (in dbSNP:rs11539471). {ECO:0000269|PubMed:10400999}.		alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CAGTGGAGACTGGAATCCCTT	0.333													T|||	655	0.130791	0.3585	0.0951	5008	,	,		16611	0.003		0.0646	False		,,,				2504	0.0481				p.W536R	Colon(35;490 801 34689 41394 43344)	Atlas-SNP	.											.	HSD17B4	63	.	0			c.T1606C						PASS	.	T	ARG/TRP,ARG/TRP,ARG/TRP	1324,3080	444.3+/-347.3	200,924,1078	113	106	108		1531,1606,1477	5.6	1	5	dbSNP_120	108	664,7934	166.8+/-218.7	26,612,3661	yes	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	101,101,101	226,1536,4739	CC,CT,TT		7.7227,30.0636,15.29	benign,benign,benign	511/737,536/762,493/719	118860938	1988,11014	2202	4299	6501	SO:0001583	missense	3295	exon19			GGAGACTGGAATC		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1531T>C	5.37:g.118860938T>C	ENSP00000256216:p.Trp511Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_001199291	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	230	0.10531135531135531	151	0.30691056910569103	30	0.08287292817679558	2	0.0034965034965034965	47	0.06200527704485488	T	17.31	3.356754	0.61293	0.300636	0.077227	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.61	5.61	0.85477	MaoC-like dehydratase (1);	0.051342	0.85682	D	0.000000	T	0.00012	0.0000	N	0.10782	0.045	0.09310	P	0.999999485192	B;B;B;B;B	0.26547	0.152;0.01;0.008;0.032;0.01	B;B;B;B;B	0.20767	0.03;0.01;0.017;0.031;0.01	T	0.04165	-1.0972	9	0.20046	T	0.44	-4.7889	14.0394	0.64665	0.0:0.0:0.0:1.0	rs11539471;rs17145454;rs52813715;rs57299690;rs11539471	536;493;487;249;511	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	R	511;493;487;536;371;374;249	ENSP00000256216:W511R;ENSP00000424613:W493R;ENSP00000424940:W487R;ENSP00000420914:W536R;ENSP00000411960:W371R;ENSP00000425993:W374R;ENSP00000426272:W249R	ENSP00000256216:W511R	W	+	1	0	HSD17B4	118888837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.293000	0.72731	2.266000	0.75297	0.533000	0.62120	TGG	T|0.864;C|0.136	0.136	strong		0.333	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		C	118860938	T	C	118860938	3	2	22	1	0	0	0	0	1	0	0	0	7386	1580	55	3	1601	3	HSD17B4	5	118860938	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	331343	118860938	62054322	3099	8207										
HSD17B4	3295	hgsc.bcm.edu	37	chr5	118861713	118861713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtgtcaagattcaaggcaAttaaggtaaatgtgtattac	9	4	2	1	rs11205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:118861713A>G	ENST00000256216.6	+	19	1808	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	HSD17B4_ENST00000504811.1_Missense_Mutation_p.I584V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.I535V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.I541V|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.I419V|HSD17B4_ENST00000509514.1_Missense_Mutation_p.I297V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.I422V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	559	Enoyl-CoA hydratase 2.|MaoC-like.		I -> V (in dbSNP:rs11205). {ECO:0000269|PubMed:14702039}.		alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I559V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ATTCAAGGCAATTAAGGTAAA	0.313													A|||	2004	0.40016	0.4092	0.4683	5008	,	,		15465	0.4177		0.4125	False		,,,				2504	0.3088				p.I584V	Colon(35;490 801 34689 41394 43344)	Atlas-SNP	.											HSD17B4,NS,carcinoma,0,1	HSD17B4	63	1	1	Substitution - Missense(1)	prostate(1)	c.A1750G						PASS	.	A	VAL/ILE,VAL/ILE,VAL/ILE	1741,2663	519.1+/-369.9	341,1059,802	148	142	144		1675,1750,1621	5.4	1	5	dbSNP_52	144	3518,5082	512.7+/-378.0	717,2084,1499	yes	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	29,29,29	1058,3143,2301	GG,GA,AA		40.907,39.5322,40.4414	benign,benign,benign	559/737,584/762,541/719	118861713	5259,7745	2202	4300	6502	SO:0001583	missense	3295	exon20			AAGGCAATTAAGG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1675A>G	5.37:g.118861713A>G	ENSP00000256216:p.Ile559Val	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	149	74	0.496644	NM_001199291	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	888	0.4065934065934066	181	0.3678861788617886	164	0.4530386740331492	213	0.3723776223776224	330	0.43535620052770446	A	14.61	2.587740	0.46110	0.395322	0.40907	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.39	5.39	0.77823	MaoC-like dehydratase (1);	0.046452	0.85682	D	0.000000	T	0.00012	0.0000	L	0.28740	0.885	0.09310	P	0.9999982734	P;B;B;B;B	0.42827	0.791;0.223;0.418;0.094;0.118	B;B;B;B;B	0.40534	0.332;0.204;0.088;0.264;0.17	T	0.34527	-0.9825	9	0.39692	T	0.17	-21.7798	14.3833	0.66926	1.0:0.0:0.0:0.0	rs11205;rs1130646;rs3189732;rs11539470;rs11740179;rs16918307;rs17342666;rs60097041;rs11205	584;541;535;297;559	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	V	559;541;535;584;419;422;297	ENSP00000256216:I559V;ENSP00000424613:I541V;ENSP00000424940:I535V;ENSP00000420914:I584V;ENSP00000411960:I419V;ENSP00000425993:I422V;ENSP00000426272:I297V	ENSP00000256216:I559V	I	+	1	0	HSD17B4	118889612	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.836000	0.55813	2.050000	0.60909	0.482000	0.46254	ATT	A|0.591;G|0.409	0.409	strong		0.313	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		G	118861713	A	G	118861713	3	3	22	1	0	0	0	0	1	0	0	0	7386	101	4	2	1749	2	HSD17B4	5	118861713	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	775	118861713	62053547	3100	8208										
HSD17B4	3295	hgsc.bcm.edu	37	chr5	118877660	118877660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgagccagaaacttcagAtgattcttaaagactacgcc	8	10	2	5	rs28943594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:118877660A>G	ENST00000256216.6	+	24	2315	c.2182A>G	c.(2182-2184)Atg>Gtg	p.M728V	HSD17B4_ENST00000515320.1_Missense_Mutation_p.M710V|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.M588V|HSD17B4_ENST00000509514.1_Missense_Mutation_p.M466V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.M704V|HSD17B4_ENST00000504811.1_Missense_Mutation_p.M753V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.M591V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	728	SCP2.		M -> V (in dbSNP:rs28943594).		alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GAAACTTCAGATGATTCTTAA	0.423													A|||	167	0.0333466	0.1218	0.0043	5008	,	,		15072	0.0		0.001	False		,,,				2504	0.002				p.M753V	Colon(35;490 801 34689 41394 43344)	Atlas-SNP	.											.	HSD17B4	63	.	0			c.A2257G						PASS	.	A	VAL/MET,VAL/MET,VAL/MET	405,3999	198.4+/-222.2	21,363,1818	65	64	64		2182,2257,2128	3.5	1	5	dbSNP_125	64	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	21,21,21	21,377,6104	GG,GA,AA		0.1628,9.1962,3.2221	benign,benign,benign	728/737,753/762,710/719	118877660	419,12585	2202	4300	6502	SO:0001583	missense	3295	exon25			CTTCAGATGATTC		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.2182A>G	5.37:g.118877660A>G	ENSP00000256216:p.Met728Val	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	172	87	0.505814	NM_001199291	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	67	0.030677655677655676	64	0.13008130081300814	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	11.01	1.512125	0.27036	0.091962	0.001628	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.94	3.46	0.39613	SCP2 sterol-binding domain (2);	0.276882	0.46145	D	0.000301	T	0.00144	0.0004	N	0.21282	0.65	0.31931	P	0.612166	B;B;B;B;B	0.11235	0.004;0.0;0.0;0.001;0.0	B;B;B;B;B	0.10450	0.003;0.003;0.005;0.001;0.003	T	0.29671	-1.0004	8	.	.	.	-10.0531	8.5921	0.33693	0.7361:0.1351:0.0:0.1288	rs28943594	753;710;704;466;728	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	V	728;710;704;753;588;591;466	ENSP00000256216:M728V;ENSP00000424613:M710V;ENSP00000424940:M704V;ENSP00000420914:M753V;ENSP00000411960:M588V;ENSP00000425993:M591V;ENSP00000426272:M466V	.	M	+	1	0	HSD17B4	118905559	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.250000	0.58772	0.446000	0.26666	0.455000	0.32223	ATG	A|0.967;G|0.033	0.033	strong		0.423	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		G	118877660	A	G	118877660	3	3	22	1	0	0	0	0	1	0	0	0	7386	333	12	2	2276	2	HSD17B4	5	118877660	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15947	118877660	62037600	3101	8209										
HSD17B4	3295	hgsc.bcm.edu	37	chr5	118877677	118877677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgattcttaaagactaCgccaagctctgaagggcaca	9	10	2	4	rs12714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:118877677C>T	ENST00000256216.6	+	24	2332	c.2199C>T	c.(2197-2199)taC>taT	p.Y733Y	HSD17B4_ENST00000515320.1_Silent_p.Y715Y|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Silent_p.Y758Y|HSD17B4_ENST00000414835.2_Silent_p.Y593Y|HSD17B4_ENST00000510025.1_Silent_p.Y709Y|HSD17B4_ENST00000509514.1_Silent_p.Y471Y|HSD17B4_ENST00000513628.1_Silent_p.Y596Y	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	733	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTAAAGACTACGCCAAGCTCT	0.408													T|||	249	0.0497204	0.146	0.0072	5008	,	,		15192	0.001		0.001	False		,,,				2504	0.0501				p.Y758Y	Colon(35;490 801 34689 41394 43344)	Atlas-SNP	.											.	HSD17B4	63	.	0			c.C2274T						PASS	.	T	,,	492,3912	780.4+/-414.4	32,428,1742	58	58	58		2199,2274,2145	-10	0.2	5	dbSNP_52	58	16,8584	818.4+/-406.9	0,16,4284	no	coding-synonymous,coding-synonymous,coding-synonymous	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	,,	32,444,6026	TT,TC,CC		0.186,11.1717,3.9065	,,	733/737,758/762,715/719	118877677	508,12496	2202	4300	6502	SO:0001819	synonymous_variant	3295	exon25			AGACTACGCCAAG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.2199C>T	5.37:g.118877677C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	154	79	0.512987	NM_001199291	B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	CCDS4126.1																																																																																			C|0.960;T|0.040	0.040	strong		0.408	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		T	118877677	C	T	118877677	2	4	22	1	0	0	0	0	0	0	0	1	7386	547	19	1		1	HSD17B4	5	118877677	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	118877677	62037583	3102	8210										
PRR16	51334	hgsc.bcm.edu	37	chr5	120021817	120021817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattaaacccccagcacacCcgtctgctatcctcacggtc	5	17	2	0	rs386691752|rs17853861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:120021817C>A	ENST00000407149.2	+	2	537	c.328C>A	c.(328-330)Ccg>Acg	p.P110T	PRR16_ENST00000505123.1_Missense_Mutation_p.P40T|PRR16_ENST00000446965.1_Missense_Mutation_p.P40T|PRR16_ENST00000379551.2_Missense_Mutation_p.P87T			Q569H4	LARGN_HUMAN	proline rich 16	110	Pro-rich.		P -> T (in dbSNP:rs17853861). {ECO:0000269|PubMed:15489334}.		positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.P87T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCCAGCACACCCGTCTGCTAT	0.532													C|||	460	0.091853	0.0711	0.085	5008	,	,		18390	0.0536		0.162	False		,,,				2504	0.092				p.P87T		Atlas-SNP	.											PRR16,NS,neuroblastoma,-1,2	PRR16	71	2	1	Substitution - Missense(1)	stomach(1)	c.C259A						PASS	.	C	THR/PRO	352,4054	182.9+/-210.6	14,324,1865	145	128	134		259	5.6	0.7	5	dbSNP_123	134	1363,7237	265.6+/-286.2	111,1141,3048	yes	missense	PRR16	NM_016644.1	38	125,1465,4913	AA,AC,CC		15.8488,7.9891,13.1862	probably-damaging	87/282	120021817	1715,11291	2203	4300	6503	SO:0001583	missense	51334	exon3			GCACACCCGTCTG	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.328C>A	5.37:g.120021817C>A	ENSP00000385118:p.Pro110Thr	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_016644	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		215	0.09844322344322344	27	0.054878048780487805	32	0.08839779005524862	36	0.06293706293706294	120	0.158311345646438	C	18.99	3.740256	0.69304	0.079891	0.158488	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.00496	0.0016	L	0.59436	1.845	0.09310	P	0.999999964264	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00118	-1.2033	8	.	.	.	-9.6375	18.3984	0.90507	0.0:1.0:0.0:0.0	rs17853861	110;87	Q569H4;Q569H4-3	PRR16_HUMAN;.	T	110;87;40;40;40	ENSP00000385118:P110T;ENSP00000368869:P87T;ENSP00000421256:P40T;ENSP00000423446:P40T;ENSP00000405491:P40T	.	P	+	1	0	PRR16	120049716	0.997000	0.39634	0.726000	0.30738	0.904000	0.53231	3.306000	0.51881	2.640000	0.89533	0.549000	0.68633	CCG	C|0.881;A|0.119	0.119	strong		0.532	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		A	120021817	C	A	120021817	3	1	22	1	0	0	0	0	1	0	0	0	12589	623	22	4	265	4	PRR16	5	120021817	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1144140	120021817	60893443	3103	8211										
ZNF474	133923	hgsc.bcm.edu	37	chr5	121487954	121487954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccctgtgatcccggcccGcaggcctggattccgggtat	12	17	0	1	rs116158782	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:121487954G>A	ENST00000296600.4	+	2	652	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	90							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ATCCCGGCCCGCAGGCCTGGA	0.493													G|||	47	0.00938498	0.0348	0.0014	5008	,	,		17011	0.0		0.0	False		,,,				2504	0.0				p.R90H		Atlas-SNP	.											.	ZNF474	43	.	0			c.G269A						PASS	.	G	HIS/ARG	146,4260	102.1+/-140.7	3,140,2060	76	86	82		269	4.7	1	5	dbSNP_132	82	5,8593	4.3+/-15.6	0,5,4294	yes	missense	ZNF474	NM_207317.1	29	3,145,6354	AA,AG,GG		0.0582,3.3137,1.1612	probably-damaging	90/365	121487954	151,12853	2203	4299	6502	SO:0001583	missense	133923	exon2			CGGCCCGCAGGCC	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.269G>A	5.37:g.121487954G>A	ENSP00000296600:p.Arg90His	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	128	56	0.4375	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	G	15.38	2.817454	0.50633	0.033137	5.82E-4	ENSG00000164185	ENST00000296600	T	0.50001	0.76	5.58	4.66	0.58398	.	0.157757	0.33980	N	0.004370	T	0.19525	0.0469	L	0.36672	1.1	0.36400	D	0.863073	D	0.89917	1.0	D	0.73708	0.981	T	0.55010	-0.8207	10	0.62326	D	0.03	-6.5368	15.9342	0.79688	0.0:0.135:0.865:0.0	.	90	Q6S9Z5	ZN474_HUMAN	H	90	ENSP00000296600:R90H	ENSP00000296600:R90H	R	+	2	0	ZNF474	121515853	0.999000	0.42202	1.000000	0.80357	0.102000	0.19082	1.797000	0.38804	2.624000	0.88883	0.655000	0.94253	CGC	G|0.988;A|0.012	0.012	strong		0.493	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		A	121487954	G	A	121487954	3	1	22	1	0	0	0	0	1	0	0	0	17929	1087	38	1	271	1	ZNF474	5	121487954	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1466137	121487954	59427306	3104	8212										
ZNF474	133923	hgsc.bcm.edu	37	chr5	121488636	121488636	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgggccaaaatatcagaaTttgaatttagggagtaaagg					rs3217313|rs398102325|rs75331699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:121488636delT	ENST00000296600.4	+	2	1334	c.951delT	c.(949-951)aatfs	p.N317fs	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	317							metal ion binding (GO:0046872)	p.L318fs*1(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AATATCAGAATTTGAATTTAG	0.438													TTT|TTT|TT|deletion	933	0.186302	0.4168	0.062	5008	,	,		20196	0.1994		0.0497	False		,,,				2504	0.09				p.N317fs		Atlas-Indel	.											.	ZNF474	43	.	1	Deletion - Frameshift(1)	stomach(1)	c.950delA						PASS	.			1518,2746		264,990,878	44	62	56			4	0	5	dbSNP_106	66	362,7892		6,350,3771	yes	frameshift	ZNF474	NM_207317.1		270,1340,4649	A1A1,A1R,RR		4.3858,35.6004,15.0184			121488636	1880,10638	2181	4300	6481	SO:0001589	frameshift_variant	133923	exon2			.	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.951delT	5.37:g.121488636delT	ENSP00000296600:p.Asn317fs	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	38	12	0.315789	NM_207317	A8K4M0|Q96M07	Frame_Shift_Del	DEL	ENST00000296600.4	37	CCDS4130.1																																																																																			T|0.822;-|0.178	0.178	strong		0.438	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		-	121488636	T	-	121488636	7	5	22	1	0	1	0	1	0	0	0	0	17929	1490	52	0	953	0	ZNF474	5	121488636	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	682	121488636	59426624	3105	8213										
GRAMD3	65983	hgsc.bcm.edu	37	chr5	125696124	125696124	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgttccacgggagagaagTgaagccagtgggtccggacc					rs79046516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:125696124T>A	ENST00000513040.1	+	1	301	c.101T>A	c.(100-102)gTg>gAg	p.V34E		NM_001146319.1	NP_001139791.1	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	0						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GGGAGAGAAGTGAAGCCAGTG	0.488													T|||	118	0.0235623	0.087	0.0043	5008	,	,		21249	0.0		0.0	False		,,,				2504	0.0				p.V34E		Atlas-SNP	.											.	GRAMD3	30	.	0			c.T101A						PASS	.						123	116	119					5																	125696124		692	1591	2283	SO:0001583	missense	65983	exon1			GAGAAGTGAAGCC	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000513040.1:c.101T>A	5.37:g.125696124T>A	ENSP00000426120:p.Val34Glu	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	215	82	0.381395	NM_001146319	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000513040.1	37	CCDS54891.1	43	0.019688644688644688	41	0.08333333333333333	2	0.0055248618784530384	0	0.0	0	0.0	T	9.413	1.081098	0.20309	.	.	ENSG00000155324	ENST00000513040	T	0.36878	1.23	4.15	-5.51	0.02568	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	8	0.02654	T	1	.	2.4366	0.04485	0.2542:0.0881:0.4343:0.2234	.	34	B7Z6D8	.	E	34	ENSP00000426120:V34E	ENSP00000426120:V34E	V	+	2	0	GRAMD3	125724023	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.306000	0.08178	-0.956000	0.03631	-1.304000	0.01323	GTG	T|0.975;A|0.025	0.025	strong		0.488	GRAMD3-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371350.1	NM_023927		A	125696124	T	A	125696124	3	1	22	1	0	0	0	0	1	0	0	0	6751	1696	59	5	103	5	GRAMD3	5	125696124	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4207488	125696124	55219136	3106	8214	153	2								
GRAMD3	65983	hgsc.bcm.edu	37	chr5	125696127	125696127	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccacgggagagaagtgaAgccagtgggtccggacctgg					rs78682130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:125696127A>G	ENST00000513040.1	+	1	304	c.104A>G	c.(103-105)aAg>aGg	p.K35R		NM_001146319.1	NP_001139791.1	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	0						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGAGAAGTGAAGCCAGTGGGT	0.488													A|||	118	0.0235623	0.087	0.0043	5008	,	,		21319	0.0		0.0	False		,,,				2504	0.0				p.K35R		Atlas-SNP	.											.	GRAMD3	30	.	0			c.A104G						PASS	.	A	ARG/LYS	87,1297		2,83,607	119	112	114		104	4.2	0	5	dbSNP_132	114	0,3182		0,0,1591	yes	missense	GRAMD3	NM_001146319.1	26	2,83,2198	GG,GA,AA		0.0,6.2861,1.9054	benign	35/448	125696127	87,4479	692	1591	2283	SO:0001583	missense	65983	exon1			AAGTGAAGCCAGT	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000513040.1:c.104A>G	5.37:g.125696127A>G	ENSP00000426120:p.Lys35Arg	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	210	80	0.380952	NM_001146319	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000513040.1	37	CCDS54891.1	43	0.019688644688644688	41	0.08333333333333333	2	0.0055248618784530384	0	0.0	0	0.0	A	12.15	1.852185	0.32699	0.062861	0.0	ENSG00000155324	ENST00000513040	T	0.35048	1.33	4.15	4.15	0.48705	.	.	.	.	.	T	0.01061	0.0035	.	.	.	0.34252	D	0.678883	B	0.24186	0.099	B	0.22753	0.041	T	0.12682	-1.0538	8	0.16896	T	0.51	.	9.8683	0.41157	1.0:0.0:0.0:0.0	.	35	B7Z6D8	.	R	35	ENSP00000426120:K35R	ENSP00000426120:K35R	K	+	2	0	GRAMD3	125724026	0.158000	0.22850	0.005000	0.12908	0.006000	0.05464	1.900000	0.39828	2.107000	0.64212	0.460000	0.39030	AAG	A|0.975;G|0.025	0.025	strong		0.488	GRAMD3-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371350.1	NM_023927		G	125696127	A	G	125696127	3	3	22	1	0	0	0	0	1	0	0	0	6751	72	3	3	106	3	GRAMD3	5	125696127	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	125696127	55219133	3107	8215	153	2								
ALDH7A1	501	hgsc.bcm.edu	37	chr5	125928395	125928395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttctcttgctttctttacAgtttcttcatagtctgccac	5	12	5	0	rs60720055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:125928395A>G	ENST00000409134.3	-	3	492	c.273T>C	c.(271-273)acT>acC	p.T91T	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Silent_p.T91T|ALDH7A1_ENST00000447989.2_Silent_p.T118T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	91					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CTTTCTTTACAGTTTCTTCAT	0.368													A|||	302	0.0603035	0.1717	0.0274	5008	,	,		18399	0.0		0.0288	False		,,,				2504	0.0276				p.T118T		Atlas-SNP	.											.	ALDH7A1	57	.	0			c.T354C						PASS	.	A	,,	657,3749	278.1+/-274.1	42,573,1588	111	105	107		273,189,354	-9.2	0.1	5	dbSNP_129	107	214,8386	88.9+/-151.2	2,210,4088	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH7A1	NM_001182.4,NM_001201377.1,NM_001202404.1	,,	44,783,5676	GG,GA,AA		2.4884,14.9115,6.6969	,,	91/540,63/512,118/503	125928395	871,12135	2203	4300	6503	SO:0001819	synonymous_variant	501	exon3			CTTTACAGTTTCT	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.273T>C	5.37:g.125928395A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	126	63	0.5	NM_001202404	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	CCDS4137.2																																																																																			A|0.941;G|0.059	0.059	strong		0.368	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		G	125928395	A	G	125928395	2	3	22	1	0	0	0	0	0	0	0	1	504	175	7	3		3	ALDH7A1	5	125928395	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	232268	125928395	54986865	3108	8216										
PHAX	51808	hgsc.bcm.edu	37	chr5	125944131	125944131	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaaggcaattgaacttctGatggaaaccgctgaagttga	10	6	1	4	rs61747690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:125944131G>C	ENST00000297540.4	+	3	1481	c.786G>C	c.(784-786)ctG>ctC	p.L262L		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	262	Necessary for interaction with CBP80. {ECO:0000250}.|Sufficient for poly U RNA-binding.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TTGAACTTCTGATGGAAACCG	0.348													G|||	184	0.0367412	0.1324	0.0086	5008	,	,		18871	0.0		0.003	False		,,,				2504	0.0				p.L262L		Atlas-SNP	.											.	PHAX	20	.	0			c.G786C						PASS	.	G		471,3935	222.6+/-239.4	27,417,1759	159	167	164		786	0.7	1	5	dbSNP_129	164	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous	PHAX	NM_032177.3		27,429,6047	CC,CG,GG		0.1395,10.69,3.7137		262/395	125944131	483,12523	2203	4300	6503	SO:0001819	synonymous_variant	51808	exon3			ACTTCTGATGGAA	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.786G>C	5.37:g.125944131G>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_032177	Q9H8W1	Silent	SNP	ENST00000297540.4	37	CCDS4138.1																																																																																			G|0.963;C|0.037	0.037	strong		0.348	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		C	125944131	G	C	125944131	2	2	22	1	0	0	0	0	0	0	0	1	11813	1277	45	4		4	PHAX	5	125944131	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15736	125944131	54971129	3109	8217										
LMNB1	4001	hgsc.bcm.edu	37	chr5	126140540	126140540	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaagcagcactgaattcGaaagatgcagctcttgctac	9	9	1	3	rs34224885	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:126140540G>A	ENST00000261366.5	+	2	793	c.432G>A	c.(430-432)tcG>tcA	p.S144S	LMNB1_ENST00000395354.1_Silent_p.S144S|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	144	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CACTGAATTCGAAAGATGCAG	0.428													G|||	113	0.0225639	0.0408	0.0331	5008	,	,		19240	0.0		0.0348	False		,,,				2504	0.001				p.S144S		Atlas-SNP	.											LMNB1,colon,carcinoma,+1,1	LMNB1	49	1	0			c.G432A						PASS	.	G	,	177,4229	116.7+/-154.6	3,171,2029	108	106	106		,432	-3.6	1	5	dbSNP_126	106	178,8422	82.0+/-144.6	3,172,4125	no	utr-5,coding-synonymous	LMNB1	NM_001198557.1,NM_005573.3	,	6,343,6154	AA,AG,GG		2.0698,4.0172,2.7295	,	,144/587	126140540	355,12651	2203	4300	6503	SO:0001819	synonymous_variant	4001	exon2			GAATTCGAAAGAT	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.432G>A	5.37:g.126140540G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	114	49	0.429825	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	CCDS4140.1																																																																																			G|0.972;A|0.028	0.028	strong		0.428	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		A	126140540	G	A	126140540	2	1	22	1	0	0	0	0	0	0	0	1	8849	1045	37	1		1	LMNB1	5	126140540	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	196409	126140540	54774720	3110	8218										
MEGF10	84466	hgsc.bcm.edu	37	chr5	126769146	126769146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggggcttcatgctccccTgatgatggcatctgcgagtg	13	10	2	2	rs11950427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:126769146T>C	ENST00000274473.6	+	15	2052	c.1785T>C	c.(1783-1785)ccT>ccC	p.P595P	MEGF10_ENST00000503335.2_Silent_p.P595P	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	595	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATGCTCCCCTGATGATGGCA	0.557													C|||	959	0.191494	0.3283	0.0965	5008	,	,		20867	0.0992		0.1431	False		,,,				2504	0.2188				p.P595P		Atlas-SNP	.											MEGF10,colon,carcinoma,+2,1	MEGF10	152	1	0			c.T1785C						PASS	.	C		1285,3121	699.6+/-406.5	204,877,1122	122	116	118		1785	-12.3	0	5	dbSNP_120	118	1271,7329	759.9+/-407.6	84,1103,3113	no	coding-synonymous	MEGF10	NM_032446.2		288,1980,4235	CC,CT,TT		14.7791,29.1648,19.6525		595/1141	126769146	2556,10450	2203	4300	6503	SO:0001819	synonymous_variant	84466	exon15			CTCCCCTGATGAT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1785T>C	5.37:g.126769146T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	178	76	0.426966	NM_032446	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																			T|0.815;C|0.185	0.185	strong		0.557	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126769146	T	C	126769146	2	2	22	1	0	0	0	0	0	0	0	1	9460	1567	55	3		3	MEGF10	5	126769146	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	628606	126769146	54146114	3111	8219										
CTXN3	613212	hgsc.bcm.edu	37	chr5	126993262	126993262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctagtgccccttgggaacGaatcagcagattctagcatg	10	12	2	1	rs386692235|rs61743797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:126993262G>A	ENST00000379445.3	+	3	600	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.E17K	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	17			E -> V (in dbSNP:rs248709). {ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		CCTTGGGAACGAATCAGCAGA	0.478													G|||	11	0.00219649	0.0076	0.0	5008	,	,		21036	0.0		0.001	False		,,,				2504	0.0				p.E17K		Atlas-SNP	.											.	CTXN3	19	.	0			c.G49A						PASS	.						128	111	117					5																	126993262		2203	4300	6503	SO:0001583	missense	613212	exon3			GGGAACGAATCAG	AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.49G>A	5.37:g.126993262G>A	ENSP00000368758:p.Glu17Lys	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	83	49	0.590361	NM_001048252	B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	CCDS34221.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	1.635	-0.518074	0.04171	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.30714	1.52;1.52	4.52	-5.44	0.02624	.	1.776230	0.02356	N	0.076391	T	0.08670	0.0215	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	9	0.09084	T	0.74	0.374	4.8394	0.13483	0.4246:0.0873:0.3994:0.0887	rs61743797	17	Q4LDR2	CTXN3_HUMAN	K	17	ENSP00000368758:E17K;ENSP00000378732:E17K	ENSP00000368758:E17K	E	+	1	0	CTXN3	127021161	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.490000	0.02304	-1.410000	0.02035	-0.940000	0.02684	GAA	G|0.998;A|0.002	0.002	strong		0.478	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841		A	126993262	G	A	126993262	3	1	22	1	0	0	0	0	1	0	0	0	4050	1059	37	1	51	1	CTXN3	5	126993262	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224116	126993262	53921998	3112	8220										
FBN2	2201	hgsc.bcm.edu	37	chr5	127622491	127622491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgattagattcttacacaTcatgcccctagattcacagt	6	12	3	2	rs32209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:127622491T>C	ENST00000508053.1	-	61	7905	c.6931A>G	c.(6931-6933)Atg>Gtg	p.M2311V	FBN2_ENST00000262464.4_Missense_Mutation_p.M2311V			P35556	FBN2_HUMAN	fibrillin 2	2311	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		M -> V (in dbSNP:rs32209).		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTTACACATCATGCCCCTA	0.448													T|||	1166	0.232827	0.2511	0.0648	5008	,	,		20513	0.5873		0.0417	False		,,,				2504	0.1585				p.M2311V		Atlas-SNP	.											.	FBN2	858	.	0			c.A6931G						PASS	.	T	VAL/MET	914,3492	351.3+/-311.2	98,718,1387	141	124	130		6931	5.3	1	5	dbSNP_76	130	358,8242	119.9+/-179.2	7,344,3949	yes	missense	FBN2	NM_001999.3	21	105,1062,5336	CC,CT,TT		4.1628,20.7444,9.7801	benign	2311/2913	127622491	1272,11734	2203	4300	6503	SO:0001583	missense	2201	exon55			TACACATCATGCC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6931A>G	5.37:g.127622491T>C	ENSP00000424571:p.Met2311Val	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	138	75	0.543478	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	522	0.23901098901098902	114	0.23170731707317074	23	0.06353591160220995	349	0.6101398601398601	36	0.047493403693931395	T	11.77	1.738740	0.30774	0.207444	0.041628	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.86694	-2.16;-2.16	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.065955	0.64402	D	0.000005	T	0.00012	0.0000	N	0.01576	-0.805	0.28809	P	0.898348	B	0.02656	0.0	B	0.04013	0.001	T	0.39921	-0.9590	9	0.28530	T	0.3	.	10.1516	0.42796	0.0:0.0741:0.0:0.9259	rs32209;rs1617952;rs17697639;rs52791218;rs60140231;rs32209	2311	P35556	FBN2_HUMAN	V	2311	ENSP00000262464:M2311V;ENSP00000424571:M2311V	ENSP00000262464:M2311V	M	-	1	0	FBN2	127650390	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.147000	0.42226	2.367000	0.80283	0.528000	0.53228	ATG	T|0.831;C|0.169	0.169	strong		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		C	127622491	T	C	127622491	3	2	22	1	0	0	0	0	1	0	0	0	5703	1435	50	2	1851	2	FBN2	5	127622491	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	629229	127622491	53292769	3113	8221										
FBN2	2201	hgsc.bcm.edu	37	chr5	127624905	127624905	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgttgatacattgaccaTttgaacaaatgcctgggctc	10	9	0	3	rs149071226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:127624905T>A	ENST00000508053.1	-	58	7525	c.6551A>T	c.(6550-6552)aAt>aTt	p.N2184I	FBN2_ENST00000262464.4_Missense_Mutation_p.N2184I			P35556	FBN2_HUMAN	fibrillin 2	2184	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATTGACCATTTGAACAAAT	0.453													T|||	3	0.000599042	0.0023	0.0	5008	,	,		18157	0.0		0.0	False		,,,				2504	0.0				p.N2184I		Atlas-SNP	.											.	FBN2	858	.	0			c.A6551T						PASS	.	T	ILE/ASN	19,4387	26.2+/-53.5	0,19,2184	161	152	155		6551	5.8	1	5	dbSNP_134	155	0,8600		0,0,4300	yes	missense	FBN2	NM_001999.3	149	0,19,6484	AA,AT,TT		0.0,0.4312,0.1461	possibly-damaging	2184/2913	127624905	19,12987	2203	4300	6503	SO:0001583	missense	2201	exon52			TGACCATTTGAAC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6551A>T	5.37:g.127624905T>A	ENSP00000424571:p.Asn2184Ile	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	110	43	0.390909	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385239	0.82792	0.004312	0.0	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92647	-3.08;-3.08	5.76	5.76	0.90799	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.95768	0.8623	M	0.89030	3	0.58432	D	0.999995	D	0.58620	0.983	P	0.60012	0.867	D	0.96209	0.9151	10	0.87932	D	0	.	12.1851	0.54234	0.0:0.0683:0.0:0.9317	.	2184	P35556	FBN2_HUMAN	I	2184	ENSP00000262464:N2184I;ENSP00000424571:N2184I	ENSP00000262464:N2184I	N	-	2	0	FBN2	127652804	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.317000	0.51968	2.324000	0.78689	0.533000	0.62120	AAT	T|0.998;A|0.002	0.002	strong		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127624905	T	A	127624905	3	1	22	1	0	0	0	0	1	0	0	0	5703	1493	52	5	2243	5	FBN2	5	127624905	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2414	127624905	53290355	3114	8222										
FBN2	2201	hgsc.bcm.edu	37	chr5	127670412	127670412	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacaagcttgaaacctaccTgtacatcctgtggtcccctt	6	14	0	1	rs28763943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:127670412T>G	ENST00000508053.1	-	37	5072	c.4098A>C	c.(4096-4098)acA>acC	p.T1366T	FBN2_ENST00000508989.1_Splice_Site_p.T1333T|FBN2_ENST00000262464.4_Splice_Site_p.T1366T|FBN2_ENST00000507835.1_Splice_Site_p.T216T			P35556	FBN2_HUMAN	fibrillin 2	1366	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAAACCTACCTGTACATCCTG	0.443													T|||	98	0.0195687	0.0726	0.0029	5008	,	,		21065	0.0		0.0	False		,,,				2504	0.0				p.T1366T		Atlas-SNP	.											.	FBN2	858	.	0			c.A4098C						PASS	.	T		331,4075	174.4+/-204.0	15,301,1887	131	117	122		4098	5	1	5	dbSNP_125	122	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	FBN2	NM_001999.3		15,304,6184	GG,GT,TT		0.0349,7.5125,2.568		1366/2913	127670412	334,12672	2203	4300	6503	SO:0001630	splice_region_variant	2201	exon31			CCTACCTGTACAT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4099+1A>C	5.37:g.127670412T>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	68	30	0.441176	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			T|0.975;G|0.025	0.025	strong		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Silent	G	127670412	T	G	127670412	5	3	22	1	0	0	0	0	0	0	1	0	5703	1594	55	5	4780	5	FBN2	5	127670412	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45507	127670412	53244848	3115	8223										
FBN2	2201	hgsc.bcm.edu	37	chr5	127873114	127873114	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccctcctcgcgatactcGggcgctagaaacccgccttc	9	18	0	1	rs73348287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:127873114G>C	ENST00000508053.1	-	7	1157	c.183C>G	c.(181-183)ccC>ccG	p.P61P	FBN2_ENST00000508989.1_Silent_p.P61P|FBN2_ENST00000262464.4_Silent_p.P61P			P35556	FBN2_HUMAN	fibrillin 2	61					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCGATACTCGGGCGCTAGAA	0.721													G|||	498	0.0994409	0.2133	0.0576	5008	,	,		11323	0.005		0.0845	False		,,,				2504	0.0879				p.P61P		Atlas-SNP	.											.	FBN2	858	.	0			c.C183G						PASS	.	G		745,3649		71,603,1523	17	20	19		183	-8.2	0.1	5	dbSNP_130	19	742,7852		39,664,3594	no	coding-synonymous	FBN2	NM_001999.3		110,1267,5117	CC,CG,GG		8.6339,16.9549,11.449		61/2913	127873114	1487,11501	2197	4297	6494	SO:0001819	synonymous_variant	2201	exon1			ATACTCGGGCGCT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.183C>G	5.37:g.127873114G>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			G|0.894;C|0.106	0.106	strong		0.721	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		C	127873114	G	C	127873114	2	2	22	1	0	0	0	0	0	0	0	1	5703	1103	39	4		4	FBN2	5	127873114	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	202702	127873114	53042146	3116	8224										
FBN2	2201	hgsc.bcm.edu	37	chr5	127873186	127873186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcggctggggccggggCggcttgggcggaggaggctg	26	9	0	0	rs55715053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:127873186C>T	ENST00000508053.1	-	7	1085	c.111G>A	c.(109-111)ccG>ccA	p.P37P	FBN2_ENST00000508989.1_Silent_p.P37P|FBN2_ENST00000262464.4_Silent_p.P37P			P35556	FBN2_HUMAN	fibrillin 2	37					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGCCGGGGCGGCTTGGGCG	0.706													C|||	690	0.13778	0.3555	0.062	5008	,	,		10249	0.005		0.0845	False		,,,				2504	0.089				p.P37P		Atlas-SNP	.											.	FBN2	858	.	0			c.G111A						PASS	.	C		1123,3175		145,833,1171	9	11	10		111	-0.7	0.6	5	dbSNP_129	10	716,7674		42,632,3521	no	coding-synonymous	FBN2	NM_001999.3		187,1465,4692	TT,TC,CC		8.534,26.1284,14.494		37/2913	127873186	1839,10849	2149	4195	6344	SO:0001819	synonymous_variant	2201	exon1			CCGGGGCGGCTTG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.111G>A	5.37:g.127873186C>T		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	27	26	0.962963	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			C|0.881;T|0.119	0.119	strong		0.706	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127873186	C	T	127873186	2	4	22	1	0	0	0	0	0	0	0	1	5703	755	27	1		1	FBN2	5	127873186	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72	127873186	53042074	3117	8225										
SLC27A6	28965	hgsc.bcm.edu	37	chr5	128362830	128362830	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgttctttcttgcaggagaAcctggacttctcatttctcg	8	11	4	1	rs2304578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:128362830A>G	ENST00000262462.4	+	7	2270	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E	SLC27A6_ENST00000395266.1_Silent_p.E420E|SLC27A6_ENST00000506176.1_Silent_p.E420E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	420					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGCAGGAGAACCTGGACTTC	0.378													A|||	352	0.0702875	0.2042	0.036	5008	,	,		19304	0.0188		0.0159	False		,,,				2504	0.0225				p.E420E		Atlas-SNP	.											.	SLC27A6	112	.	0			c.A1260G						PASS	.	A	,	735,3671	297.0+/-284.5	58,619,1526	77	80	79		1260,1260	2.1	1	5	dbSNP_100	79	147,8453	72.3+/-134.9	0,147,4153	no	coding-synonymous,coding-synonymous	SLC27A6	NM_001017372.1,NM_014031.3	,	58,766,5679	GG,GA,AA		1.7093,16.6818,6.7815	,	420/620,420/620	128362830	882,12124	2203	4300	6503	SO:0001819	synonymous_variant	28965	exon7			AGGAGAACCTGGA	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1260A>G	5.37:g.128362830A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	161	87	0.540373	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	CCDS4145.1																																																																																			A|0.935;G|0.065	0.065	strong		0.378	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		G	128362830	A	G	128362830	2	3	22	1	0	0	0	0	0	0	0	1	14530	40	2	2		2	SLC27A6	5	128362830	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	489644	128362830	52552430	3118	8226										
ISOC1	51015	hgsc.bcm.edu	37	chr5	128442644	128442644	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtactttcctactagactcaTgtgtgcatccaacaaactgc	6	12	1	1	rs3734161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:128442644T>C	ENST00000173527.5	+	4	655	c.639T>C	c.(637-639)caT>caC	p.H213H		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	213						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		ACTAGACTCATGTGTGCATCC	0.408													T|||	357	0.0712859	0.1861	0.0346	5008	,	,		20035	0.0446		0.0219	False		,,,				2504	0.0204				p.H213H		Atlas-SNP	.											.	ISOC1	26	.	0			c.T639C						PASS	.	T		608,3356		41,526,1415	99	94	96		639	-2.7	1	5	dbSNP_107	96	225,8119		1,223,3948	no	coding-synonymous	ISOC1	NM_016048.2		42,749,5363	CC,CT,TT		2.6965,15.338,6.768		213/299	128442644	833,11475	1982	4172	6154	SO:0001819	synonymous_variant	51015	exon4			GACTCATGTGTGC	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.639T>C	5.37:g.128442644T>C		Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_016048	Q7Z770	Silent	SNP	ENST00000173527.5	37	CCDS43357.1																																																																																			T|0.931;C|0.069	0.069	strong		0.408	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		C	128442644	T	C	128442644	2	2	22	1	0	0	0	0	0	0	0	1	7862	1461	51	2		2	ISOC1	5	128442644	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79814	128442644	52472616	3119	8227										
ADAMTS19	171019	hgsc.bcm.edu	37	chr5	128844838	128844838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatacaatggccataacAggtcacccacaccgtgtata	7	11	1	1	rs28630040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:128844838A>G	ENST00000274487.4	+	3	943	c.798A>G	c.(796-798)acA>acG	p.T266T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	266						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGCCATAACAGGTCACCCAC	0.393													A|||	638	0.127396	0.1747	0.1715	5008	,	,		15417	0.0883		0.0755	False		,,,				2504	0.1258				p.T266T		Atlas-SNP	.											.	ADAMTS19	216	.	0			c.A798G						PASS	.	A		667,3739	283.4+/-277.1	54,559,1590	107	97	101		798	-0.7	1	5	dbSNP_125	101	705,7895	173.0+/-223.6	35,635,3630	no	coding-synonymous	ADAMTS19	NM_133638.3		89,1194,5220	GG,GA,AA		8.1977,15.1384,10.549		266/1208	128844838	1372,11634	2203	4300	6503	SO:0001819	synonymous_variant	171019	exon3			CATAACAGGTCAC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.798A>G	5.37:g.128844838A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																			A|0.892;G|0.108	0.108	strong		0.393	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128844838	A	G	128844838	2	3	22	1	0	0	0	0	0	0	0	1	264	175	7	3		3	ADAMTS19	5	128844838	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	402194	128844838	52070422	3120	8228										
CHSY3	337876	hgsc.bcm.edu	37	chr5	129520679	129520679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgccaaagaaatgggagGgcacaatgaaaagaaagtac	13	5	0	3	rs10068403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:129520679G>A	ENST00000305031.4	+	3	2202	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	615			G -> E (in dbSNP:rs10068403).		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)	p.G615E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAAATGGGAGGGCACAATGAA	0.358													G|||	854	0.170527	0.2965	0.1643	5008	,	,		21395	0.2579		0.006	False		,,,				2504	0.0838				p.G615E		Atlas-SNP	.											CHSY3,right_upper_lobe,carcinoma,+1,2	CHSY3	92	2	1	Substitution - Missense(1)	stomach(1)	c.G1844A						PASS	.	G	GLU/GLY	970,3436	357.1+/-313.8	103,764,1336	56	57	57		1844	0.3	0	5	dbSNP_119	57	60,8540	35.9+/-90.5	0,60,4240	yes	missense	CHSY3	NM_175856.4	98	103,824,5576	AA,AG,GG		0.6977,22.0154,7.9194	benign	615/883	129520679	1030,11976	2203	4300	6503	SO:0001583	missense	337876	exon3			TGGGAGGGCACAA	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1844G>A	5.37:g.129520679G>A	ENSP00000302629:p.Gly615Glu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	71	27	0.380282	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	376	0.17216117216117216	171	0.3475609756097561	48	0.13259668508287292	151	0.263986013986014	6	0.0079155672823219	G	0.003	-2.405052	0.00195	0.220154	0.006977	ENSG00000198108	ENST00000305031	T	0.34472	1.36	4.12	0.333	0.15943	.	0.342006	0.24727	N	0.036100	T	0.00012	0.0000	N	0.01003	-1.06	0.34603	P	0.28325900000000004	B	0.11235	0.004	B	0.17098	0.017	T	0.43410	-0.9393	8	.	.	.	-1.8064	2.315	0.04196	0.2187:0.1294:0.5187:0.1331	rs10068403;rs17769784;rs10068403	615	Q70JA7	CHSS3_HUMAN	E	615	ENSP00000302629:G615E	.	G	+	2	0	CHSY3	129548578	0.995000	0.38212	0.008000	0.14137	0.710000	0.40934	2.503000	0.45407	0.028000	0.15324	-0.157000	0.13467	GGG	G|0.878;A|0.122	0.122	strong		0.358	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		A	129520679	G	A	129520679	3	1	22	1	0	0	0	0	1	0	0	0	3413	1232	43	2	1854	2	CHSY3	5	129520679	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	675841	129520679	51394581	3121	8229										
CHSY3	337876	hgsc.bcm.edu	37	chr5	129520932	129520932	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagagttttccagaggtctTggtcttgaaatggcttctgc	13	7	3	3	rs73788438	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:129520932T>G	ENST00000305031.4	+	3	2455	c.2097T>G	c.(2095-2097)ctT>ctG	p.L699L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	699					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCAGAGGTCTTGGTCTTGAAA	0.433													T|||	191	0.038139	0.1271	0.0245	5008	,	,		20200	0.0		0.001	False		,,,				2504	0.0051				p.L699L		Atlas-SNP	.											CHSY3,colon,carcinoma,+2,2	CHSY3	92	2	0			c.T2097G						PASS	.	T		466,3940	217.1+/-235.6	21,424,1758	88	83	85		2097	-1.4	1	5	dbSNP_130	85	13,8587	10.5+/-38.8	0,13,4287	no	coding-synonymous	CHSY3	NM_175856.4		21,437,6045	GG,GT,TT		0.1512,10.5765,3.6829		699/883	129520932	479,12527	2203	4300	6503	SO:0001819	synonymous_variant	337876	exon3			AGGTCTTGGTCTT	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2097T>G	5.37:g.129520932T>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	119	55	0.462185	NM_175856	B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	CCDS34223.1																																																																																			T|0.966;G|0.034	0.034	strong		0.433	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		G	129520932	T	G	129520932	2	3	22	1	0	0	0	0	0	0	0	1	3413	1799	63	5		5	CHSY3	5	129520932	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	253	129520932	51394328	3122	8230										
RAPGEF6	51735	hgsc.bcm.edu	37	chr5	130840385	130840385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatgctcatgtaccataacAatttctccctcttcctcaac	3	15	4	0	rs10063129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:130840385A>G	ENST00000509018.1	-	11	1393	c.1188T>C	c.(1186-1188)atT>atC	p.I396I	RAPGEF6_ENST00000296859.6_Silent_p.I396I|RAPGEF6_ENST00000307984.5_Silent_p.I396I|CTC-432M15.3_ENST00000514667.1_Silent_p.I446I|RAPGEF6_ENST00000510071.1_Silent_p.I396I|RAPGEF6_ENST00000507093.1_Silent_p.I396I|RAPGEF6_ENST00000308008.6_Silent_p.I396I|RAPGEF6_ENST00000512052.1_Silent_p.I111I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	396					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTACCATAACAATTTCTCCCT	0.398													A|||	406	0.0810703	0.2496	0.0418	5008	,	,		18225	0.0		0.0368	False		,,,				2504	0.0102				p.I396I	Melanoma(168;435 1955 13113 13877 23213)	Atlas-SNP	.											.	RAPGEF6	361	.	0			c.T1188C						PASS	.	A	,,,,,	913,3493	351.8+/-311.4	86,741,1376	197	181	186		1188,1188,1188,1188,1188,1188	3.2	1	5	dbSNP_119	186	299,8301	109.0+/-169.6	4,291,4005	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAPGEF6	NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_001164389.1,NM_001164390.1,NM_016340.5	,,,,,	90,1032,5381	GG,GA,AA		3.4767,20.7217,9.3188	,,,,,	396/1610,396/1510,396/1505,396/1392,396/828,396/1602	130840385	1212,11794	2203	4300	6503	SO:0001819	synonymous_variant	51735	exon11			CATAACAATTTCT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1188T>C	5.37:g.130840385A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	166	78	0.46988	NM_016340	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	CCDS34225.1																																																																																			A|0.912;G|0.088	0.088	strong		0.398	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130840385	A	G	130840385	2	3	22	1	0	0	0	0	0	0	0	1	13048	126	5	2		2	RAPGEF6	5	130840385	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1319453	130840385	50074875	3123	8231										
CSF2	1437	hgsc.bcm.edu	37	chr5	131411460	131411460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcctgtgcaacccagaTtatcacctttgaaagtttca	5	11	2	2	rs25882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131411460T>C	ENST00000296871.2	+	4	384	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	117			I -> T (in dbSNP:rs25882). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAACCCAGATTATCACCTTT	0.463													T|||	1752	0.34984	0.3169	0.2709	5008	,	,		15704	0.622		0.2465	False		,,,				2504	0.2761				p.I117T		Atlas-SNP	.											.	CSF2	2	.	0			c.T350C	GRCh37	CM004548	CSF2	M	rs25882	PASS	.	T	THR/ILE	1407,2999	458.4+/-352.0	236,935,1032	110	131	124		350	-1.5	0	5	dbSNP_76	124	1824,6776	326.6+/-317.4	190,1444,2666	yes	missense	CSF2	NM_000758.2	89	426,2379,3698	CC,CT,TT		21.2093,31.9337,24.8424	benign	117/145	131411460	3231,9775	2203	4300	6503	SO:0001583	missense	1437	exon4			CCCAGATTATCAC	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"sargramostim", "molgramostin", "granulocyte-macrophage colony stimulating factor"	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.350T>C	5.37:g.131411460T>C	ENSP00000296871:p.Ile117Thr	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	8	5	0.625	NM_000758	Q14CE8|Q2VPI8|Q8NFI6	Missense_Mutation	SNP	ENST00000296871.2	37	CCDS4150.1	808	0.36996336996337	160	0.3252032520325203	92	0.2541436464088398	362	0.6328671328671329	194	0.2559366754617414	T	10.95	1.494396	0.26774	0.319337	0.212093	ENSG00000164400	ENST00000296871	T	0.31247	1.5	4.69	-1.53	0.08611	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.952780	0.02234	N	0.065127	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.45308	-0.9270	9	0.15066	T	0.55	3.7898	2.6539	0.05007	0.3322:0.2445:0.0:0.4234	rs25882;rs630043;rs1126706;rs1801712;rs2229043;rs3181894;rs3854262;rs17414791;rs52812898;rs25882	117	P04141	CSF2_HUMAN	T	117	ENSP00000296871:I117T	ENSP00000296871:I117T	I	+	2	0	CSF2	131439359	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	-0.458000	0.06737	-0.195000	0.10382	0.482000	0.46254	ATT	C|0.319;N|0.000	0.319	strong		0.463	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		C	131411460	T	C	131411460	3	2	22	1	0	0	0	0	1	0	0	0	3933	1493	52	2	364	2	CSF2	5	131411460	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	571075	131411460	49503800	3124	8232										
PDLIM4	8572	hgsc.bcm.edu	37	chr5	131607721	131607721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgttccccccatcaggggCaccatcgtcaaggcacggga	11	16	2	0	rs10479001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131607721C>T	ENST00000253754.3	+	7	856	c.792C>T	c.(790-792)ggC>ggT	p.G264G	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.A225V	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	264	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATCAGGGGCACCATCGTCA	0.622													C|||	350	0.0698882	0.1702	0.0764	5008	,	,		17367	0.0		0.0507	False		,,,				2504	0.0215				p.A225V		Atlas-SNP	.											PDLIM4,NS,carcinoma,0,1	PDLIM4	22	1	0			c.C674T						PASS	.	C	VAL/ALA,	538,3868	245.0+/-254.1	34,470,1699	119	86	97		674,792	0.8	1	5	dbSNP_119	97	409,8191	129.2+/-187.3	11,387,3902	yes	missense,coding-synonymous	PDLIM4	NM_001131027.1,NM_003687.3	64,	45,857,5601	TT,TC,CC		4.7558,12.2106,7.2813	,	225/247,264/331	131607721	947,12059	2203	4300	6503	SO:0001819	synonymous_variant	8572	exon6			CAGGGGCACCATC	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.792C>T	5.37:g.131607721C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	80	41	0.5125	NM_001131027	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	160	0.07326007326007326	87	0.17682926829268292	35	0.09668508287292818	0	0.0	38	0.05013192612137203	C	16.22	3.062134	0.55432	0.122106	0.047558	ENSG00000131435	ENST00000379018	T	0.19806	2.12	5.05	0.828	0.18841	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.50813	P	1.100000000000545E-4	B	0.12630	0.006	B	0.13407	0.009	T	0.26950	-1.0088	7	0.54805	T	0.06	-13.028	3.9412	0.09328	0.118:0.5178:0.2255:0.1387	rs10479001;rs10479001	225	P50479-2	.	V	225	ENSP00000368303:A225V	ENSP00000368303:A225V	A	+	2	0	PDLIM4	131635620	0.198000	0.23374	0.998000	0.56505	0.949000	0.60115	-0.353000	0.07691	0.123000	0.18342	0.655000	0.94253	GCA	C|0.913;T|0.087	0.087	strong		0.622	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		T	131607721	C	T	131607721	2	4	22	1	0	0	0	0	0	0	0	1	11682	710	25	2		2	PDLIM4	5	131607721	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	196261	131607721	49307539	3125	8233										
SLC22A5	6584	hgsc.bcm.edu	37	chr5	131705949	131705949	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgccaacttctcggcgctTgggctggagccggggcgcga	16	13	1	0	rs2631365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131705949T>C	ENST00000245407.3	+	1	506	c.285T>C	c.(283-285)ctT>ctC	p.L95L	SLC22A5_ENST00000435065.2_Silent_p.L95L|AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000457998.2_RNA	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	95					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TCTCGGCGCTTGGGCTGGAGC	0.692											OREG0003451	type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	2435	0.486222	0.3434	0.3285	5008	,	,		11579	0.6736		0.4165	False		,,,				2504	0.6697				p.L95L		Atlas-SNP	.											.	SLC22A5	34	.	0			c.T285C						PASS	.	C		1347,2899		253,841,1029	9	11	10		285	-0.6	1	5	dbSNP_100	10	3097,5365		647,1803,1781	no	coding-synonymous	SLC22A5	NM_003060.3		900,2644,2810	CC,CT,TT		36.5989,31.724,34.9701		95/558	131705949	4444,8264	2123	4231	6354	SO:0001819	synonymous_variant	6584	exon1			GGCGCTTGGGCTG	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.285T>C	5.37:g.131705949T>C		Somatic	108	0	0	1589	WXS	Illumina HiSeq	Phase_I	120	58	0.483333	NM_003060	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	CCDS4154.1																																																																																			T|0.732;C|0.268	0.268	strong		0.692	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		C	131705949	T	C	131705949	2	2	22	1	0	0	0	0	0	0	0	1	14457	1799	63	2		2	SLC22A5	5	131705949	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	98228	131705949	49209311	3126	8234										
SLC22A5	6584	hgsc.bcm.edu	37	chr5	131721174	131721174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacgatgccgggggtgctAtgcgtggcactctggtggtg	18	9	1	1	rs274558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131721174A>G	ENST00000245407.3	+	4	1028	c.807A>G	c.(805-807)ctA>ctG	p.L269L	SLC22A5_ENST00000435065.2_Silent_p.L293L	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	269					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CGGGGGTGCTATGCGTGGCAC	0.557											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2435	0.486222	0.3434	0.33	5008	,	,		16426	0.6736		0.4145	False		,,,				2504	0.6708				p.L269L		Atlas-SNP	.											.	SLC22A5	34	.	0			c.A807G						PASS	.	G		1555,2851	668.4+/-402.0	264,1027,912	113	100	104		807	-0.8	1	5	dbSNP_79	104	3365,5235	642.5+/-399.8	674,2017,1609	no	coding-synonymous	SLC22A5	NM_003060.3		938,3044,2521	GG,GA,AA		39.1279,35.2928,37.8287		269/558	131721174	4920,8086	2203	4300	6503	SO:0001819	synonymous_variant	6584	exon4			GGTGCTATGCGTG	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.807A>G	5.37:g.131721174A>G		Somatic	173	0	0	1589	WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_003060	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	CCDS4154.1																																																																																			A|0.579;G|0.421	0.421	strong		0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		G	131721174	A	G	131721174	2	3	22	1	0	0	0	0	0	0	0	1	14457	436	16	2		2	SLC22A5	5	131721174	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15225	131721174	49194086	3127	8235										
SLC22A5	6584	hgsc.bcm.edu	37	chr5	131729935	131729935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaagatggtcaagaaaggCccacaatccttaaaagcaca	7	9	1	2	rs11568525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131729935C>T	ENST00000245407.3	+	10	1866	c.1645C>T	c.(1645-1647)Ccc>Tcc	p.P549S	SLC22A5_ENST00000435065.2_Missense_Mutation_p.P573S	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	549			P -> S (associated with CDSP; unclassified missense variant; dbSNP:rs11568525). {ECO:0000269|PubMed:16931768, ECO:0000269|PubMed:20574985}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TCAAGAAAGGCCCACAATCCT	0.388													C|||	110	0.0219649	0.0809	0.0043	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0				p.P549S		Atlas-SNP	.											.	SLC22A5	34	.	0			c.C1645T						PASS	.	C	SER/PRO	307,4099	166.9+/-198.0	5,297,1901	124	117	119		1645	4.4	1	5	dbSNP_126	119	0,8600		0,0,4300	yes	missense	SLC22A5	NM_003060.3	74	5,297,6201	TT,TC,CC		0.0,6.9678,2.3604	benign	549/558	131729935	307,12699	2203	4300	6503	SO:0001583	missense	6584	exon10			GAAAGGCCCACAA	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1645C>T	5.37:g.131729935C>T	ENSP00000245407:p.Pro549Ser	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	139	55	0.395683	NM_003060	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	CCDS4154.1	39	0.017857142857142856	37	0.07520325203252033	2	0.0055248618784530384	0	0.0	0	0.0	C	10.62	1.402298	0.25291	0.069678	0.0	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.72725	-0.64;-0.68	5.28	4.38	0.52667	.	0.594079	0.17842	N	0.160148	T	0.04815	0.0130	N	0.24115	0.695	0.29262	N	0.871235	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.04178	-1.0971	10	0.09084	T	0.74	.	10.2464	0.43343	0.0:0.9041:0.0:0.0959	rs11568525;rs45558436;rs52826155;rs57292152;rs11568525	573;549	A2Q0V1;O76082	.;S22A5_HUMAN	S	549;573	ENSP00000245407:P549S;ENSP00000402760:P573S	ENSP00000245407:P549S	P	+	1	0	SLC22A5	131757834	0.935000	0.31712	0.985000	0.45067	0.319000	0.28217	1.735000	0.38176	1.392000	0.46585	0.655000	0.94253	CCC	C|0.972;T|0.028	0.028	strong		0.388	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		T	131729935	C	T	131729935	3	4	22	1	0	0	0	0	1	0	0	0	14457	739	26	2	1683	2	SLC22A5	5	131729935	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8761	131729935	49185325	3128	8236										
IRF1	3659	hgsc.bcm.edu	37	chr5	131822055	131822055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtgctgctgacagcacaTggcgacagtgctggggaaca	15	9	0	2	rs9282762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:131822055T>C	ENST00000245414.4	-	7	813	c.555A>G	c.(553-555)ccA>ccG	p.P185P	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Silent_p.P185P	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	185					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGACAGCACATGGCGACAGTG	0.577													C|||	2036	0.40655	0.4758	0.3588	5008	,	,		19987	0.3829		0.3449	False		,,,				2504	0.4346				p.P185P		Atlas-SNP	.											.	IRF1	26	.	0			c.A555G						PASS	.	C	,	2158,2248	588.0+/-386.8	521,1116,566	72	70	71		,555	-7.7	0	5	dbSNP_118	71	2806,5794	672.0+/-402.9	460,1886,1954	no	utr-3,coding-synonymous	IRF1,C5orf56	NM_001207002.1,NM_002198.2	,	981,3002,2520	CC,CT,TT		32.6279,48.9787,38.167	,	,185/326	131822055	4964,8042	2203	4300	6503	SO:0001819	synonymous_variant	3659	exon7			AGCACATGGCGAC		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.555A>G	5.37:g.131822055T>C		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	40	16	0.4	NM_002198	Q96GG7	Silent	SNP	ENST00000245414.4	37	CCDS4155.1																																																																																			T|0.623;C|0.377	0.377	strong		0.577	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		C	131822055	T	C	131822055	2	2	22	1	0	0	0	0	0	0	0	1	7827	1451	51	2		2	IRF1	5	131822055	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	92120	131822055	49093205	3129	8237										
SEPT8	23176	hgsc.bcm.edu	37	chr5	132099999	132099999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgttgctctcctggaggtcAtaggtctggggccgcaggcg	16	11	3	0	rs30507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132099999A>G	ENST00000378719.2	-	3	501	c.264T>C	c.(262-264)taT>taC	p.Y88Y	SEPT8_ENST00000378721.4_Silent_p.Y88Y|SEPT8_ENST00000378706.1_Silent_p.Y88Y|SEPT8_ENST00000296873.7_Silent_p.Y88Y|SEPT8_ENST00000378701.1_Silent_p.Y88Y|SEPT8_ENST00000458488.2_Silent_p.Y88Y|SEPT8_ENST00000378699.2_Silent_p.Y28Y|SEPT8_ENST00000448933.1_Silent_p.Y28Y	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	88	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGAGGTCATAGGTCTGGG	0.562													G|||	2508	0.500799	0.9221	0.3199	5008	,	,		18143	0.747		0.1441	False		,,,				2504	0.1728				p.Y88Y		Atlas-SNP	.											.	SEPT8	28	.	0			c.T264C						PASS	.	G	,,,	3329,985		1313,703,141	95	102	100		264,264,84,264	-6.2	0.3	5	dbSNP_76	100	1016,7524		52,912,3306	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	,,,	1365,1615,3447	GG,GA,AA		11.897,22.8326,33.8027	,,,	88/484,88/443,28/370,88/430	132099999	4345,8509	2157	4270	6427	SO:0001819	synonymous_variant	23176	exon3			GAGGTCATAGGTC	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.264T>C	5.37:g.132099999A>G		Somatic	231	2	0.00865801		WXS	Illumina HiSeq	Phase_I	259	256	0.988417	NM_015146	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	CCDS43358.1																																																																																			G|0.438;N|0.000	0.438	strong		0.562	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		G	132099999	A	G	132099999	2	3	22	1	0	0	0	0	0	0	0	1	14070	224	8	2		2	SEPT8	5	132099999	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	277944	132099999	48815261	3130	8238										
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149593	132149593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgagcccgcacccttcGgccccccgggggcagcggcc	14	21	0	0	rs114865630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132149593G>A	ENST00000378693.2	+	1	561	c.280G>A	c.(280-282)Ggc>Agc	p.G94S		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	94	Pro-rich.																CGCACCCTTCGGCCCCCCGGG	0.726													G|||	151	0.0301518	0.1097	0.0086	5008	,	,		9361	0.0		0.0	False		,,,				2504	0.0				p.G94S		Atlas-SNP	.											.	.	.	.	0			c.G280A						PASS	.	G	SER/GLY	228,2496		11,206,1145	9	13	12		280	-6.5	0	5	dbSNP_132	12	4,6042		0,4,3019	no	missense	ANKRD43	NM_175873.4	56	11,210,4164	AA,AG,GG		0.0662,8.37,2.6454	benign	94/550	132149593	232,8538	1362	3023	4385	SO:0001583	missense	134548	exon1			CCCTTCGGCCCCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.280G>A	5.37:g.132149593G>A	ENSP00000367965:p.Gly94Ser	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	16	12	0.75	NM_175873	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	68	0.031135531135531136	57	0.11585365853658537	11	0.03038674033149171	0	0.0	0	0.0	g	7.170	0.587390	0.13812	0.0837	6.62E-4	ENSG00000198944	ENST00000378693	T	0.35421	1.31	3.95	-6.54	0.01860	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.80722	P	0.0	B	0.18610	0.029	B	0.08055	0.003	T	0.37753	-0.9692	8	0.06236	T	0.91	7.4965	10.6849	0.45837	0.0:0.0953:0.7015:0.2032	.	94	Q2M3V2	ANR43_HUMAN	S	94	ENSP00000367965:G94S	ENSP00000367965:G94S	G	+	1	0	ANKRD43	132177492	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-3.229000	0.00549	-0.876000	0.04017	0.290000	0.19541	GGC	G|0.964;A|0.036	0.036	strong		0.726	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		A	132149593	G	A	132149593	3	1	22	1	0	0	0	0	1	0	0	0	671	1116	39	1	282	1	ANKRD43	5	132149593	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49594	132149593	48765667	3131	8239										
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132150804	132150804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctggcccgaggcttgaaGaagtcgagctccttcagcaa	12	12	1	2	rs7719416	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132150804G>A	ENST00000378693.2	+	1	1772	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	497																	GAGGCTTGAAGAAGTCGAGCT	0.587													G|||	151	0.0301518	0.1097	0.0086	5008	,	,		18235	0.0		0.0	False		,,,				2504	0.0				p.K497K		Atlas-SNP	.											.	.	.	.	0			c.G1491A						PASS	.	G		458,3948	214.5+/-233.7	27,404,1772	47	50	49		1491	4.2	1	5	dbSNP_116	49	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ANKRD43	NM_175873.4		27,413,6063	AA,AG,GG		0.1047,10.3949,3.5907		497/550	132150804	467,12539	2203	4300	6503	SO:0001819	synonymous_variant	134548	exon1			CTTGAAGAAGTCG	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1491G>A	5.37:g.132150804G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_175873	Q8NAE7	Silent	SNP	ENST00000378693.2	37	CCDS43361.1																																																																																			G|0.965;A|0.035	0.035	strong		0.587	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		A	132150804	G	A	132150804	2	1	22	1	0	0	0	0	0	0	0	1	671	933	33	2		2	ANKRD43	5	132150804	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1211	132150804	48764456	3132	8240										
SHROOM1	134549	hgsc.bcm.edu	37	chr5	132159393	132159393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacagggtgggtggcaggGttttcaagccttgtctcctc	14	10	2	0	rs33935150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132159393G>A	ENST00000378679.3	-	8	2679	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	SHROOM1_ENST00000319854.3_Silent_p.N625N|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Silent_p.N556N	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	625	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGTGGCAGGGTTTTCAAGCC	0.597													G|||	379	0.0756789	0.1664	0.0144	5008	,	,		17766	0.1349		0.0119	False		,,,				2504	0.001				p.N625N		Atlas-SNP	.											.	SHROOM1	35	.	0			c.C1875T						PASS	.	G	,	690,3716	281.4+/-275.9	51,588,1564	52	53	52		1875,1875	-0.4	0	5	dbSNP_126	52	21,8579	15.3+/-51.7	0,21,4279	no	coding-synonymous,coding-synonymous	SHROOM1	NM_001172700.1,NM_133456.2	,	51,609,5843	AA,AG,GG		0.2442,15.6605,5.4667	,	625/853,625/848	132159393	711,12295	2203	4300	6503	SO:0001819	synonymous_variant	134549	exon5			GGCAGGGTTTTCA	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1875C>T	5.37:g.132159393G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	89	37	0.41573	NM_133456	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	CCDS54902.1																																																																																			G|0.939;A|0.061	0.061	strong		0.597	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		A	132159393	G	A	132159393	2	1	22	1	0	0	0	0	0	0	0	1	14293	1252	44	2		2	SHROOM1	5	132159393	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8589	132159393	48755867	3133	8241										
AFF4	27125	hgsc.bcm.edu	37	chr5	132232148	132232148	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaaggctttcctggtattCtagtcaaaagattcaggtca	9	7	4	1	rs138811630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132232148C>G	ENST00000265343.5	-	11	2553	c.2174G>C	c.(2173-2175)aGa>aCa	p.R725T	AFF4_ENST00000378595.3_Missense_Mutation_p.R725T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	725					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTGGTATTCTAGTCAAAAG	0.453													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0				p.R725T	Ovarian(126;889 1733 2942 10745 11605)	Atlas-SNP	.											.	AFF4	120	.	0			c.G2174C						PASS	.	C	THR/ARG	8,4398	12.9+/-30.5	0,8,2195	125	125	125		2174	4.9	1	5	dbSNP_134	125	0,8600		0,0,4300	yes	missense	AFF4	NM_014423.3	71	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	probably-damaging	725/1164	132232148	8,12998	2203	4300	6503	SO:0001583	missense	27125	exon11			GGTATTCTAGTCA	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2174G>C	5.37:g.132232148C>G	ENSP00000265343:p.Arg725Thr	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	196	89	0.454082	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	21.2	4.115328	0.77323	0.001816	0.0	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.78481	-1.18;-1.18	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89385	0.6700	M	0.85777	2.775	0.58432	D	0.999998	D;D	0.67145	0.996;0.991	D;D	0.77557	0.99;0.987	D	0.91090	0.4906	10	0.72032	D	0.01	-16.5422	18.443	0.90673	0.0:1.0:0.0:0.0	.	725;725	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	T	725	ENSP00000265343:R725T;ENSP00000367858:R725T	ENSP00000265343:R725T	R	-	2	0	AFF4	132260047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.593000	0.82686	2.417000	0.82017	0.563000	0.77884	AGA	C|0.999;G|0.001	0.001	strong		0.453	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		G	132232148	C	G	132232148	3	3	22	1	0	0	0	0	1	0	0	0	359	913	32	4	1361	4	AFF4	5	132232148	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72755	132232148	48683112	3134	8242										
HSPA4	3308	hgsc.bcm.edu	37	chr5	132437531	132437531	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaactagggaaacagatCcaacagtatatgaaaataat	8	5	0	3	rs1131809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132437531C>T	ENST00000304858.2	+	17	2407	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	706					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAACAGATCCAACAGTATA	0.289													C|||	837	0.167133	0.1664	0.1066	5008	,	,		18023	0.0913		0.2316	False		,,,				2504	0.2229				p.I706I	Colon(114;1299 1588 6063 12302 48757)	Atlas-SNP	.											.	HSPA4	68	.	0			c.C2118T						PASS	.	C		738,3668	300.1+/-286.2	67,604,1532	65	63	64		2118	1.3	1	5	dbSNP_86	64	2017,6583	347.9+/-326.8	228,1561,2511	no	coding-synonymous	HSPA4	NM_002154.3		295,2165,4043	TT,TC,CC		23.4535,16.7499,21.1825		706/841	132437531	2755,10251	2203	4300	6503	SO:0001819	synonymous_variant	3308	exon17			ACAGATCCAACAG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2118C>T	5.37:g.132437531C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	196	79	0.403061	NM_002154	O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	CCDS4166.1																																																																																			C|0.802;T|0.198	0.198	strong		0.289	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		T	132437531	C	T	132437531	2	4	22	1	0	0	0	0	0	0	0	1	7412	845	30	2		2	HSPA4	5	132437531	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	205383	132437531	48477729	3135	8243										
FSTL4	23105	hgsc.bcm.edu	37	chr5	132535225	132535225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactgactatgaagcgcccGtcgggggatgtgtgtggggt	18	8	0	2	rs61740558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:132535225G>A	ENST00000265342.7	-	16	2340	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	697						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D697D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGCGCCCGTCGGGGGATG	0.607													G|||	110	0.0219649	0.0772	0.0115	5008	,	,		18282	0.0		0.0	False		,,,				2504	0.0				p.D697D		Atlas-SNP	.											FSTL4,colon,carcinoma,0,2	FSTL4	74	2	1	Substitution - coding silent(1)	large_intestine(1)	c.C2091T						PASS	.	G		270,4136	151.8+/-185.6	9,252,1942	49	52	51		2091	-4.1	0.6	5	dbSNP_129	51	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	FSTL4	NM_015082.1		9,258,6236	AA,AG,GG		0.0698,6.128,2.1221		697/843	132535225	276,12730	2203	4300	6503	SO:0001819	synonymous_variant	23105	exon16			GCGCCCGTCGGGG	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2091C>T	5.37:g.132535225G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	118	68	0.576271	NM_015082	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																			G|0.980;A|0.020	0.020	strong		0.607	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132535225	G	A	132535225	2	1	22	1	0	0	0	0	0	0	0	1	6079	1136	40	1		1	FSTL4	5	132535225	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97694	132535225	48380035	3136	8244										
CATSPER3	347732	hgsc.bcm.edu	37	chr5	134343661	134343661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagacgctgatcaccgcCgtggggcagacagtctacac	12	13	2	3	rs10044000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134343661C>T	ENST00000282611.6	+	4	593	c.507C>T	c.(505-507)gcC>gcT	p.A169A		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	169					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.A169A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATCACCGCCGTGGGGCAGA	0.592													C|||	1358	0.271166	0.1467	0.2911	5008	,	,		13373	0.2569		0.4254	False		,,,				2504	0.2812				p.A169A		Atlas-SNP	.											CATSPER3,NS,carcinoma,0,1	CATSPER3	38	1	1	Substitution - coding silent(1)	stomach(1)	c.C507T						PASS	.	C		813,3593	324.8+/-298.8	65,683,1455	190	138	156		507	-2	0	5	dbSNP_119	156	3585,5015	518.2+/-379.2	751,2083,1466	no	coding-synonymous	CATSPER3	NM_178019.2		816,2766,2921	TT,TC,CC		41.686,18.4521,33.8152		169/399	134343661	4398,8608	2203	4300	6503	SO:0001819	synonymous_variant	347732	exon4			CACCGCCGTGGGG	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.507C>T	5.37:g.134343661C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	211	120	0.56872	NM_178019	Q86XS6	Silent	SNP	ENST00000282611.6	37	CCDS4181.1																																																																																			C|0.678;T|0.322	0.322	strong		0.592	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		T	134343661	C	T	134343661	2	4	22	1	0	0	0	0	0	0	0	1	2689	639	23	1		1	CATSPER3	5	134343661	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1808436	134343661	46571599	3137	8245										
CATSPER3	347732	hgsc.bcm.edu	37	chr5	134343766	134343766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtttggatctccagacaaTggtgaccatgataactgggg	12	8	1	3	rs3896260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134343766T>G	ENST00000282611.6	+	4	698	c.612T>G	c.(610-612)aaT>aaG	p.N204K		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	204			N -> K (in dbSNP:rs3896260).		calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCAGACAATGGTGACCATG	0.552													G|||	646	0.128994	0.4584	0.0461	5008	,	,		15472	0.0		0.007	False		,,,				2504	0.001				p.N204K		Atlas-SNP	.											.	CATSPER3	38	.	0			c.T612G						PASS	.	G	LYS/ASN	1758,2648	644.5+/-398.0	347,1064,792	184	145	158		612	-2.1	0	5	dbSNP_108	158	24,8576	818.1+/-406.9	0,24,4276	yes	missense	CATSPER3	NM_178019.2	94	347,1088,5068	GG,GT,TT		0.2791,39.9001,13.7014	benign	204/399	134343766	1782,11224	2203	4300	6503	SO:0001583	missense	347732	exon4			AGACAATGGTGAC	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.612T>G	5.37:g.134343766T>G	ENSP00000282611:p.Asn204Lys	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	303	145	0.478548	NM_178019	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	241	0.11034798534798534	221	0.4491869918699187	17	0.04696132596685083	0	0.0	3	0.00395778364116095	G	0.003	-2.468589	0.00169	0.399001	0.002791	ENSG00000152705	ENST00000282611	D	0.97553	-4.43	4.33	-2.08	0.07254	Ion transport (1);	1.918400	0.01976	N	0.044466	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50440	-0.8828	8	.	.	.	1.4415	0.1834	0.00126	0.2523:0.1883:0.202:0.3574	rs3896260;rs52815255;rs60117234;rs3896260	204	Q86XQ3	CTSR3_HUMAN	K	204	ENSP00000282611:N204K	.	N	+	3	2	CATSPER3	134371665	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.154000	0.03166	-0.973000	0.03555	-0.358000	0.07595	AAT	T|0.860;G|0.140	0.140	strong		0.552	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		G	134343766	T	G	134343766	3	3	22	1	0	0	0	0	1	0	0	0	2689	1461	51	5	626	5	CATSPER3	5	134343766	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	105	134343766	46571494	3138	8246										
CATSPER3	347732	hgsc.bcm.edu	37	chr5	134343799	134343799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgggggaacctggctgcAgcttttttcaccctcttcag	10	12	3	0	rs177252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134343799A>G	ENST00000282611.6	+	4	731	c.645A>G	c.(643-645)gcA>gcG	p.A215A		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	215					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTGGCTGCAGCTTTTTTCA	0.542													G|||	2549	0.508986	0.6415	0.4078	5008	,	,		15572	0.5615		0.3191	False		,,,				2504	0.5429				p.A215A		Atlas-SNP	.											.	CATSPER3	38	.	0			c.A645G						PASS	.	G		2542,1864	536.5+/-374.5	734,1074,395	117	105	109		645	-0.7	0	5	dbSNP_79	109	2576,6024	689.8+/-404.4	382,1812,2106	no	coding-synonymous	CATSPER3	NM_178019.2		1116,2886,2501	GG,GA,AA		29.9535,42.3059,39.3511		215/399	134343799	5118,7888	2203	4300	6503	SO:0001819	synonymous_variant	347732	exon4			GGCTGCAGCTTTT	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.645A>G	5.37:g.134343799A>G		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	257	113	0.439689	NM_178019	Q86XS6	Silent	SNP	ENST00000282611.6	37	CCDS4181.1																																																																																			A|0.562;G|0.438	0.438	strong		0.542	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		G	134343799	A	G	134343799	2	3	22	1	0	0	0	0	0	0	0	1	2689	175	7	3		3	CATSPER3	5	134343799	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	134343799	46571461	3139	8247										
CATSPER3	347732	hgsc.bcm.edu	37	chr5	134347241	134347241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtactatgagatcgtgcaTgtgctgagcctaatgctgga	12	8	0	2	rs7719874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134347241T>C	ENST00000282611.6	+	8	1211	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	375					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATCGTGCATGTGCTGAGCC	0.562													T|||	293	0.0585064	0.2126	0.0144	5008	,	,		19649	0.0		0.002	False		,,,				2504	0.0				p.H375H		Atlas-SNP	.											.	CATSPER3	38	.	0			c.T1125C						PASS	.	T		785,3621	317.2+/-295.0	66,653,1484	88	76	80		1125	-5.6	0.1	5	dbSNP_116	80	7,8593	6.4+/-24.3	0,7,4293	no	coding-synonymous	CATSPER3	NM_178019.2		66,660,5777	CC,CT,TT		0.0814,17.8166,6.0895		375/399	134347241	792,12214	2203	4300	6503	SO:0001819	synonymous_variant	347732	exon8			CGTGCATGTGCTG	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.1125T>C	5.37:g.134347241T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_178019	Q86XS6	Silent	SNP	ENST00000282611.6	37	CCDS4181.1																																																																																			T|0.929;C|0.071	0.071	strong		0.562	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		C	134347241	T	C	134347241	2	2	22	1	0	0	0	0	0	0	0	1	2689	1461	51	2		2	CATSPER3	5	134347241	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3442	134347241	46568019	3140	8248										
PITX1	5307	hgsc.bcm.edu	37	chr5	134364996	134364996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttacgccacttggctcgccGgttcttgaaccagacctggg	11	14	1	2	rs1131611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134364996G>T	ENST00000265340.7	-	3	834	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	PITX1_ENST00000506438.1_Silent_p.R140R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	140					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTGGCTCGCCGGTTCTTGAAC	0.687													G|||	898	0.179313	0.4554	0.2061	5008	,	,		15649	0.001		0.1054	False		,,,				2504	0.047				p.R140R		Atlas-SNP	.											.	PITX1	31	.	0			c.C418A						PASS	.	G		1784,2618		370,1044,787	37	42	40		418	3.5	1	5	dbSNP_86	40	929,7665		57,815,3425	no	coding-synonymous	PITX1	NM_002653.4		427,1859,4212	TT,TG,GG		10.8099,40.527,20.8757		140/315	134364996	2713,10283	2201	4297	6498	SO:0001819	synonymous_variant	5307	exon3			CTCGCCGGTTCTT	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.418C>A	5.37:g.134364996G>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	31	0.574074	NM_002653	A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	CCDS4182.1																																																																																			G|0.809;T|0.191	0.191	strong		0.687	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			T	134364996	G	T	134364996	2	4	22	1	0	0	0	0	0	0	0	1	11954	1115	39	4		4	PITX1	5	134364996	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17755	134364996	46550264	3141	8249										
H2AFY	9555	hgsc.bcm.edu	37	chr5	134670765	134670765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatggaagaggacattgtAgacacgaagtaactggagat	13	4	0	4	rs3210047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134670765A>G	ENST00000511689.1	-	9	1613	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000510038.1_Silent_p.S340S|H2AFY_ENST00000312469.4_Silent_p.S337S|H2AFY_ENST00000304332.4_Silent_p.S339S|H2AFY_ENST00000423969.2_Silent_p.S168S|CTC-349C3.1_ENST00000432382.3_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	340	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGACATTGTAGACACGAAGT	0.488													G|||	598	0.119409	0.2753	0.0562	5008	,	,		22435	0.0556		0.0626	False		,,,				2504	0.0777				p.S340S		Atlas-SNP	.											.	H2AFY	61	.	0			c.T1020C						PASS	.	G	,,,	1176,3230	711.7+/-408.0	169,838,1196	137	125	129		1017,1017,1011,1020	-2.1	0.8	5	dbSNP_105	129	624,7976	791.2+/-407.6	24,576,3700	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	H2AFY	NM_001040158.1,NM_004893.2,NM_138609.2,NM_138610.2	,,,	193,1414,4896	GG,GA,AA		7.2558,26.6909,13.8398	,,,	339/372,339/372,337/370,340/373	134670765	1800,11206	2203	4300	6503	SO:0001819	synonymous_variant	9555	exon9			CATTGTAGACACG	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.1020T>C	5.37:g.134670765A>G		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	250	126	0.504	NM_138610	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	CCDS4185.1																																																																																			A|0.875;G|0.125	0.125	strong		0.488	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		G	134670765	A	G	134670765	2	3	22	1	0	0	0	0	0	0	0	1	6929	407	15	3		3	H2AFY	5	134670765	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	305769	134670765	46244495	3142	8250										
C5orf20	140947	hgsc.bcm.edu	37	chr5	134782396	134782396	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacgggtagagtctgaaacTacaaaccagatgtttccggg	12	8	1	3	rs67187482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134782396T>A	ENST00000503143.2	-	1	642	c.403A>T	c.(403-405)Agt>Tgt	p.S135C	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		135						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCTGAAACTACAAACCAGA	0.547													T|||	430	0.0858626	0.2867	0.0418	5008	,	,		19738	0.0		0.0179	False		,,,				2504	0.0041				p.S135C		Atlas-SNP	.											.	C5orf20	16	.	0			c.A403T						PASS	.	T	CYS/SER	1116,3290	402.4+/-332.3	149,818,1236	132	143	139		403	-1.8	0	5	dbSNP_130	139	119,8481	61.7+/-123.6	1,117,4182	yes	missense	C5orf20	NM_130848.2	112	150,935,5418	AA,AT,TT		1.3837,25.3291,9.4956	benign	135/245	134782396	1235,11771	2203	4300	6503	SO:0001583	missense	140947	exon1			TGAAACTACAAAC																												ENST00000503143.2:c.403A>T	5.37:g.134782396T>A	ENSP00000421871:p.Ser135Cys	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_130848		Missense_Mutation	SNP	ENST00000503143.2	37	CCDS4186.1	163	0.07463369963369963	132	0.2682926829268293	14	0.03867403314917127	0	0.0	17	0.022427440633245383	T	4.521	0.096694	0.08681	0.253291	0.013837	ENSG00000251380	ENST00000503143	T	0.39056	1.1	2.85	-1.79	0.07932	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	8	0.87932	D	0	.	4.0496	0.09790	0.3788:0.41:0.0:0.2112	.	135	Q8TF63	DCNP1_HUMAN	C	135	ENSP00000421871:S135C	ENSP00000421871:S135C	S	-	1	0	C5orf20	134810295	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.310000	0.19356	-0.278000	0.09180	-0.892000	0.02923	AGT	T|0.905;A|0.095	0.095	strong		0.547	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			A	134782396	T	A	134782396	3	1	22	1	0	0	0	0	1	0	0	0	2284	1522	53	5	335	5	C5orf20	5	134782396	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111631	134782396	46132864	3143	8251										
C5orf20	140947	hgsc.bcm.edu	37	chr5	134782443	134782443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgcctggtctggcctgtcTtccttctgctgctatgcagt	10	15	3	0	rs113429044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134782443T>C	ENST00000503143.2	-	1	595	c.356A>G	c.(355-357)aAg>aGg	p.K119R	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		119						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGCCTGTCTTCCTTCTGCT	0.547													T|||	452	0.0902556	0.3033	0.0418	5008	,	,		19866	0.0		0.0179	False		,,,				2504	0.0041				p.K119R		Atlas-SNP	.											.	C5orf20	16	.	0			c.A356G						PASS	.	T	ARG/LYS	1160,3246	410.9+/-335.5	154,852,1197	112	120	117		356	0.2	0	5	dbSNP_132	117	119,8481	61.7+/-123.6	1,117,4182	yes	missense	C5orf20	NM_130848.2	26	155,969,5379	CC,CT,TT		1.3837,26.3277,9.8339	benign	119/245	134782443	1279,11727	2203	4300	6503	SO:0001583	missense	140947	exon1			CCTGTCTTCCTTC																												ENST00000503143.2:c.356A>G	5.37:g.134782443T>C	ENSP00000421871:p.Lys119Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_130848		Missense_Mutation	SNP	ENST00000503143.2	37	CCDS4186.1	170	0.07783882783882784	139	0.28252032520325204	14	0.03867403314917127	0	0.0	17	0.022427440633245383	T	5.813	0.334340	0.11013	0.263277	0.013837	ENSG00000251380	ENST00000503143	T	0.37915	1.17	2.78	0.236	0.15471	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.000000000032756E-6	B	0.16603	0.018	B	0.08055	0.003	T	0.36089	-0.9762	8	0.87932	D	0	.	3.1238	0.06400	0.5045:0.2511:0.0:0.2444	.	119	Q8TF63	DCNP1_HUMAN	R	119	ENSP00000421871:K119R	ENSP00000421871:K119R	K	-	2	0	C5orf20	134810342	0.000000	0.05858	0.013000	0.15412	0.047000	0.14425	-0.373000	0.07494	0.043000	0.15746	-0.669000	0.03829	AAG	T|0.902;C|0.098	0.098	strong		0.547	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			C	134782443	T	C	134782443	3	2	22	1	0	0	0	0	1	0	0	0	2284	1609	56	3	382	3	C5orf20	5	134782443	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47	134782443	46132817	3144	8252										
NEUROG1	4762	hgsc.bcm.edu	37	chr5	134871280	134871280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaggctgcctgttggagtCtggcacagtcttcctcgtcg	14	12	2	0	rs34137563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:134871280C>T	ENST00000314744.4	-	1	359	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	34					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTTGGAGTCTGGCACAGTC	0.692													C|||	30	0.00599042	0.0212	0.0029	5008	,	,		13642	0.0		0.0	False		,,,				2504	0.0				p.R34K		Atlas-SNP	.											.	NEUROG1	18	.	0			c.G101A						PASS	.	C	LYS/ARG	63,4167		2,59,2054	13	12	12		101	3.8	1	5	dbSNP_126	12	0,8264		0,0,4132	yes	missense	NEUROG1	NM_006161.2	26	2,59,6186	TT,TC,CC		0.0,1.4894,0.5042	possibly-damaging	34/238	134871280	63,12431	2115	4132	6247	SO:0001583	missense	4762	exon1			TGGAGTCTGGCAC	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.101G>A	5.37:g.134871280C>T	ENSP00000317580:p.Arg34Lys	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	30	13	0.433333	NM_006161	Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	CCDS4187.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	12.13	1.847045	0.32606	0.014894	0.0	ENSG00000181965	ENST00000314744	D	0.95103	-3.61	4.7	3.83	0.44106	.	0.656928	0.13766	N	0.364252	T	0.74489	0.3723	N	0.24115	0.695	0.26416	N	0.976176	P	0.37864	0.61	B	0.37989	0.262	T	0.72606	-0.4242	10	0.06099	T	0.92	-0.0177	10.6463	0.45621	0.0:0.904:0.0:0.096	rs34137563	34	Q92886	NGN1_HUMAN	K	34	ENSP00000317580:R34K	ENSP00000317580:R34K	R	-	2	0	NEUROG1	134899179	1.000000	0.71417	0.958000	0.39756	0.312000	0.27988	2.898000	0.48672	0.977000	0.38444	-0.258000	0.10820	AGA	C|0.993;T|0.007	0.007	strong		0.692	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		T	134871280	C	T	134871280	3	4	22	1	0	0	0	0	1	0	0	0	10352	913	32	2	616	2	NEUROG1	5	134871280	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88837	134871280	46043980	3145	8253										
TGFBI	7045	hgsc.bcm.edu	37	chr5	135392482	135392482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagaacggagcagactctTgggtaaagaccaacttaagt	11	7	1	3	rs200219644		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:135392482T>G	ENST00000442011.2	+	12	1837	c.1676T>G	c.(1675-1677)tTg>tGg	p.L559W	TGFBI_ENST00000305126.8_Missense_Mutation_p.L559W|TGFBI_ENST00000508076.1_5'Flank	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	559	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGACTCTTGGGTAAAGAC	0.512													T|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.001	False		,,,				2504	0.0				p.L559W		Atlas-SNP	.											.	TGFBI	76	.	0			c.T1676G						PASS	.	T	TRP/LEU	3,3871		0,3,1934	43	45	45		1676	5.8	1	5		45	0,8266		0,0,4133	yes	missense	TGFBI	NM_000358.2	61	0,3,6067	GG,GT,TT		0.0,0.0774,0.0247	probably-damaging	559/684	135392482	3,12137	1937	4133	6070	SO:0001583	missense	7045	exon12			GACTCTTGGGTAA	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1676T>G	5.37:g.135392482T>G	ENSP00000416330:p.Leu559Trp	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	216	117	0.541667	NM_000358	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344323	0.82022	7.74E-4	0.0	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.92495	-3.05;-3.05	5.75	5.75	0.90469	FAS1 domain (5);	0.345979	0.31636	N	0.007304	D	0.97012	0.9024	M	0.93854	3.465	0.58432	D	0.999999	D;D	0.67145	0.992;0.996	D;D	0.70487	0.969;0.969	D	0.97996	1.0357	10	0.87932	D	0	-1.0597	16.0502	0.80755	0.0:0.0:0.0:1.0	.	292;559	B9ZVW9;Q15582	.;BGH3_HUMAN	W	559;292;559	ENSP00000416330:L559W;ENSP00000306306:L559W	ENSP00000306306:L559W	L	+	2	0	TGFBI	135420381	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.538000	0.67193	2.201000	0.70794	0.496000	0.49642	TTG	.	.	weak		0.512	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			G	135392482	T	G	135392482	3	3	22	1	0	0	0	0	1	0	0	0	15817	1821	63	5	1722	5	TGFBI	5	135392482	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	521202	135392482	45522778	3146	8254										
TRPC7	57113	hgsc.bcm.edu	37	chr5	135583342	135583342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcagaatgtatgcaatgCgagagaagctcagcacgacg	13	9	1	2	rs183404828		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:135583342C>T	ENST00000513104.1	-	7	1943	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	TRPC7_ENST00000355180.3_Missense_Mutation_p.R493H|TRPC7_ENST00000426057.2_Missense_Mutation_p.R438H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	554					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R554L(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTATGCAATGCGAGAGAAGCT	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20968	0.0		0.0	False		,,,				2504	0.0				p.R554H		Atlas-SNP	.											TRPC7,NS,carcinoma,0,2	TRPC7	126	2	2	Substitution - Missense(2)	lung(2)	c.G1661A						scavenged	.						122	122	122					5																	135583342		1968	4171	6139	SO:0001583	missense	57113	exon7			GCAATGCGAGAGA	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1661G>A	5.37:g.135583342C>T	ENSP00000426070:p.Arg554His	Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.570690	0.96540	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.99591	-6.24;-6.24;-6.24	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.90082	3.085	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.979;0.999;0.999	D	0.97962	1.0338	10	0.87932	D	0	-14.3984	19.9142	0.97043	0.0:1.0:0.0:0.0	.	438;493;499;554	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	493;438;554;554	ENSP00000347312:R493H;ENSP00000441628:R438H;ENSP00000426070:R554H	ENSP00000265193:R554H	R	-	2	0	TRPC7	135611241	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC	C|0.999;T|0.001	0.001	strong		0.498	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135583342	C	T	135583342	3	4	22	1	0	0	0	0	1	0	0	0	16581	768	27	1	951	1	TRPC7	5	135583342	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	190860	135583342	45331918	3147	8255										
TRPC7	57113	hgsc.bcm.edu	37	chr5	135692575	135692575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgcgccgccaggatgatGggcgtgatgtcgtgggagaa	18	8	0	3	rs2546661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:135692575G>A	ENST00000513104.1	-	2	783	c.501C>T	c.(499-501)ccC>ccT	p.P167P	TRPC7_ENST00000355180.3_Silent_p.P167P|TRPC7_ENST00000426057.2_Silent_p.P167P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	167					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGATGATGGGCGTGATGT	0.647													G|||	1346	0.26877	0.4312	0.2075	5008	,	,		19100	0.3641		0.164	False		,,,				2504	0.1022				p.P167P		Atlas-SNP	.											.	TRPC7	126	.	0			c.C501T						PASS	.	G	,,	1622,2784	481.4+/-359.1	283,1056,864	134	144	140		501,501,501	3.5	1	5	dbSNP_100	140	1368,7232	261.7+/-284.0	114,1140,3046	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPC7	NM_001167576.1,NM_001167577.1,NM_020389.2	,,	397,2196,3910	AA,AG,GG		15.907,36.8134,22.9894	,,	167/747,167/802,167/863	135692575	2990,10016	2203	4300	6503	SO:0001819	synonymous_variant	57113	exon2			GATGATGGGCGTG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.501C>T	5.37:g.135692575G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	131	76	0.580153	NM_001167576	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	593	0.2715201465201465	220	0.44715447154471544	65	0.17955801104972377	182	0.3181818181818182	126	0.1662269129287599	G	9.734	1.163071	0.21538	0.368134	0.15907	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.27	3.46	0.39613	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.47911	-0.9080	3	.	.	.	-21.3621	4.6145	0.12418	0.2104:0.0:0.5183:0.2713	rs2546661;rs3777161;rs57153548;rs2546661	.	.	.	Y	167	.	.	H	-	1	0	TRPC7	135720474	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.481000	0.22260	0.762000	0.33152	0.655000	0.94253	CAT	G|0.723;A|0.277	0.277	strong		0.647	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692575	G	A	135692575	2	1	22	1	0	0	0	0	0	0	0	1	16581	1335	47	2		2	TRPC7	5	135692575	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109233	135692575	45222685	3148	8256										
SPOCK1	6695	hgsc.bcm.edu	37	chr5	136448208	136448208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcacttgaccaaattcgaAggtccaacccagtgtttctg	8	11	1	1	rs17170968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:136448208A>G	ENST00000394945.1	-	5	559	c.390T>C	c.(388-390)ccT>ccC	p.P130P	SPOCK1_ENST00000282223.7_Silent_p.P130P	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	130	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAAATTCGAAGGTCCAACCC	0.498													A|||	379	0.0756789	0.2769	0.0187	5008	,	,		18879	0.0		0.0	False		,,,				2504	0.0				p.P130P		Atlas-SNP	.											.	SPOCK1	58	.	0			c.T390C						PASS	.	A		1146,3260	407.3+/-334.2	151,844,1208	101	97	98		390	-1	1	5	dbSNP_123	98	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	SPOCK1	NM_004598.3		151,854,5498	GG,GA,AA		0.1163,26.01,8.8882		130/440	136448208	1156,11850	2203	4300	6503	SO:0001819	synonymous_variant	6695	exon5			ATTCGAAGGTCCA	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.390T>C	5.37:g.136448208A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_004598	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	CCDS4191.1																																																																																			A|0.924;G|0.076	0.076	strong		0.498	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		G	136448208	A	G	136448208	2	3	22	1	0	0	0	0	0	0	0	1	15078	59	3	3		3	SPOCK1	5	136448208	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	755633	136448208	44467052	3149	8257										
KIF20A	10112	hgsc.bcm.edu	37	chr5	137520025	137520025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcctgcatgattgtcaatGtgaatccctgtgcatctacc	8	11	2	2	rs142495138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:137520025G>A	ENST00000394894.3	+	12	1676	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M	KIF20A_ENST00000508792.1_Missense_Mutation_p.V466M	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	484	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATTGTCAATGTGAATCCCTG	0.512																																					p.V484M		Atlas-SNP	.											.	KIF20A	53	.	0			c.G1450A						PASS	.	G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	170	163	165		1450	3.7	1	5	dbSNP_134	165	0,8600		0,0,4300	no	missense	KIF20A	NM_005733.2	21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	484/891	137520025	4,13002	2203	4300	6503	SO:0001583	missense	10112	exon12			GTCAATGTGAATC	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1450G>A	5.37:g.137520025G>A	ENSP00000378356:p.Val484Met	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	208	107	0.514423	NM_005733	B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921838	0.33908	9.08E-4	0.0	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.55930	0.49;0.49	5.49	3.72	0.42706	Kinesin, motor domain (3);	0.175916	0.27164	N	0.020639	T	0.46268	0.1384	L	0.50919	1.6	0.40300	D	0.978593	B;B	0.25272	0.122;0.036	B;B	0.32149	0.141;0.051	T	0.47341	-0.9125	10	0.72032	D	0.01	-5.3957	6.3677	0.21463	0.3825:0.0:0.6175:0.0	.	466;484	B4DL79;O95235	.;KI20A_HUMAN	M	484;466	ENSP00000378356:V484M;ENSP00000420880:V466M	ENSP00000378356:V484M	V	+	1	0	KIF20A	137547924	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.399000	0.52586	0.874000	0.35823	0.643000	0.83706	GTG	G|1.000;A|0.000	0.000	strong		0.512	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		A	137520025	G	A	137520025	3	1	22	1	0	0	0	0	1	0	0	0	8286	1377	48	2	1492	2	KIF20A	5	137520025	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1071817	137520025	43395235	3150	8258										
CDC25C	995	hgsc.bcm.edu	37	chr5	137665323	137665323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcgaaagatcgaggcaacGttttggggttcctctgttga	12	7	1	2	rs3734166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:137665323G>A	ENST00000323760.6	-	3	486	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CDC25C_ENST00000514555.1_Missense_Mutation_p.R70C|CDC25C_ENST00000356505.3_Missense_Mutation_p.R70C|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000513970.1_Missense_Mutation_p.R70C	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	70			R -> C (in dbSNP:rs3734166). {ECO:0000269|PubMed:11139144, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2195549}.		cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGAGGCAACGTTTTGGGGTT	0.398													G|||	1954	0.390176	0.4773	0.2983	5008	,	,		19081	0.6101		0.3072	False		,,,				2504	0.1963				p.R70C		Atlas-SNP	.											.	CDC25C	37	.	0			c.C208T						PASS	.	G	CYS/ARG,	1964,2442	553.9+/-378.9	435,1094,674	124	119	121		208,	-1	1	5	dbSNP_107	121	2388,6212	396.6+/-345.4	337,1714,2249	yes	missense,intron	CDC25C	NM_001790.3,NM_022809.2	180,	772,2808,2923	AA,AG,GG		27.7674,44.5756,33.4615	benign,	70/474,	137665323	4352,8654	2203	4300	6503	SO:0001583	missense	995	exon3			GGCAACGTTTTGG	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.208C>T	5.37:g.137665323G>A	ENSP00000321656:p.Arg70Cys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	117	49	0.418803	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	889	0.40705128205128205	230	0.46747967479674796	96	0.26519337016574585	333	0.5821678321678322	230	0.3034300791556728	G	12.56	1.973598	0.34848	0.445756	0.277674	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.4	-0.963	0.10330	.	0.512067	0.18564	N	0.137526	T	0.00012	0.0000	N	0.04297	-0.235	0.09310	P	0.999999838467	B;B;B;B	0.14012	0.009;0.005;0.001;0.003	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.42599	-0.9442	9	0.37606	T	0.19	0.0708	7.8092	0.29221	0.6152:0.0:0.3848:0.0	rs3734166;rs17851708;rs57255403;rs3734166	87;87;70;70	G3V1P6;B4DX61;P30307-2;P30307	.;.;.;MPIP3_HUMAN	C	70;70;70;87;70;70;87	ENSP00000321656:R70C;ENSP00000348898:R70C;ENSP00000424795:R70C;ENSP00000425470:R70C;ENSP00000427251:R70C;ENSP00000427105:R87C	ENSP00000321656:R70C	R	-	1	0	CDC25C	137693222	0.513000	0.26194	0.993000	0.49108	0.961000	0.63080	-0.842000	0.04354	-0.138000	0.11434	0.563000	0.77884	CGT	A|0.359;C|0.003	0.359	strong		0.398	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			A	137665323	G	A	137665323	3	1	22	1	0	0	0	0	1	0	0	0	3064	1145	40	1	1261	1	CDC25C	5	137665323	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145298	137665323	43249937	3151	8259										
KDM3B	51780	hgsc.bcm.edu	37	chr5	137708434	137708434	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcatgctgaggaagttatCgtgcttctgctggaagggtc	14	7	2	1	rs4835678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:137708434C>T	ENST00000314358.5	+	2	464	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	88					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGAAGTTATCGTGCTTCTGC	0.498													T|||	3380	0.67492	0.5598	0.6715	5008	,	,		17856	0.8482		0.5934	False		,,,				2504	0.7382				p.I88I		Atlas-SNP	.											.	KDM3B	177	.	0			c.C264T						PASS	.	T		2530,1876	539.9+/-375.4	711,1108,384	109	103	105		264	3.9	1	5	dbSNP_111	105	5019,3581	519.3+/-379.4	1473,2073,754	no	coding-synonymous	KDM3B	NM_016604.3		2184,3181,1138	TT,TC,CC		41.6395,42.5783,41.9576		88/1762	137708434	7549,5457	2203	4300	6503	SO:0001819	synonymous_variant	51780	exon2			AGTTATCGTGCTT	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.264C>T	5.37:g.137708434C>T		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	211	100	0.473934	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																			C|0.379;T|0.621	0.621	strong		0.498	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		T	137708434	C	T	137708434	2	4	22	1	0	0	0	0	0	0	0	1	8127	874	31	1		1	KDM3B	5	137708434	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43111	137708434	43206826	3152	8260										
KDM3B	51780	hgsc.bcm.edu	37	chr5	137754695	137754695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgaaactaccttctctggTggaggaggaccggcaccagt	12	11	1	0	rs7726234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:137754695T>C	ENST00000314358.5	+	14	3689	c.3489T>C	c.(3487-3489)ggT>ggC	p.G1163G	KDM3B_ENST00000542866.1_Silent_p.G195G|KDM3B_ENST00000394866.1_Silent_p.G819G|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1163					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTTCTCTGGTGGAGGAGGAC	0.493													C|||	3396	0.678115	0.5681	0.6715	5008	,	,		19126	0.8532		0.5924	False		,,,				2504	0.7393				p.G1163G		Atlas-SNP	.											KDM3B,NS,carcinoma,0,1	KDM3B	177	1	0			c.T3489C						PASS	.	C		2574,1832	533.0+/-373.6	737,1100,366	97	99	98		3489	-11.3	0	5	dbSNP_116	98	5021,3579	519.1+/-379.4	1473,2075,752	no	coding-synonymous	KDM3B	NM_016604.3		2210,3175,1118	CC,CT,TT		41.6163,41.5797,41.6039		1163/1762	137754695	7595,5411	2203	4300	6503	SO:0001819	synonymous_variant	51780	exon14			CTCTGGTGGAGGA	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3489T>C	5.37:g.137754695T>C		Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	219	97	0.442922	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																			T|0.382;C|0.618	0.618	strong		0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		C	137754695	T	C	137754695	2	2	22	1	0	0	0	0	0	0	0	1	8127	1683	59	2		2	KDM3B	5	137754695	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46261	137754695	43160565	3153	8261										
HSPA9	3313	hgsc.bcm.edu	37	chr5	137902339	137902339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagatgaggagagttcacaTttagccttttcagcagcttc	9	9	2	3	rs1042665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:137902339T>C	ENST00000297185.3	-	9	1073	c.948A>G	c.(946-948)aaA>aaG	p.K316K	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	316					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAGTTCACATTTAGCCTTTT	0.408													T|||	2103	0.419928	0.3464	0.2464	5008	,	,		18698	0.7629		0.2485	False		,,,				2504	0.4652				p.K316K		Atlas-SNP	.											.	HSPA9	49	.	0			c.A948G						PASS	.	T		1401,3005	460.3+/-352.6	225,951,1027	156	143	147		948	-1.3	0.8	5	dbSNP_86	147	1896,6704	337.2+/-322.2	191,1514,2595	no	coding-synonymous	HSPA9	NM_004134.6		416,2465,3622	CC,CT,TT		22.0465,31.7975,25.3498		316/680	137902339	3297,9709	2203	4300	6503	SO:0001819	synonymous_variant	3313	exon9			TTCACATTTAGCC	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.948A>G	5.37:g.137902339T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_004134	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																			T|0.686;C|0.314	0.314	strong		0.408	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		C	137902339	T	C	137902339	2	2	22	1	0	0	0	0	0	0	0	1	7417	1490	52	2		2	HSPA9	5	137902339	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	147644	137902339	43012921	3154	8262										
CTNNA1	1495	hgsc.bcm.edu	37	chr5	138266546	138266546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccactcaaaaatacatcGgatgtcatcagtgctgccaa	8	11	3	0	rs1059110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:138266546G>A	ENST00000302763.7	+	16	2310	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S	CTNNA1_ENST00000540387.1_Silent_p.S370S|CTNNA1_ENST00000355078.5_Silent_p.S637S|CTNNA1_ENST00000518825.1_Silent_p.S740S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	740					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAATACATCGGATGTCATCA	0.463													A|||	1247	0.249002	0.4259	0.2695	5008	,	,		20368	0.0079		0.2714	False		,,,				2504	0.2209				p.S740S		Atlas-SNP	.											.	CTNNA1	114	.	0			c.G2220A						PASS	.	A		1797,2609	641.3+/-397.4	345,1107,751	85	87	86		2220	-2	1	5	dbSNP_86	86	2557,6043	691.9+/-404.5	371,1815,2114	no	coding-synonymous	CTNNA1	NM_001903.2		716,2922,2865	AA,AG,GG		29.7326,40.7853,33.4769		740/907	138266546	4354,8652	2203	4300	6503	SO:0001819	synonymous_variant	1495	exon16			TACATCGGATGTC	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2220G>A	5.37:g.138266546G>A		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	226	101	0.446903	NM_001903	Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																			G|0.693;A|0.307	0.307	strong		0.463	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		A	138266546	G	A	138266546	2	1	22	1	0	0	0	0	0	0	0	1	4012	1103	39	1		1	CTNNA1	5	138266546	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	364207	138266546	42648714	3155	8263										
CXXC5	51523	hgsc.bcm.edu	37	chr5	139060486	139060486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctggcggcggccatggcGgtggacaaaagcaaccctac	14	13	0	0	rs356445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:139060486G>A	ENST00000302517.3	+	2	1092	c.378G>A	c.(376-378)gcG>gcA	p.A126A	CXXC5_ENST00000511048.1_Silent_p.A126A	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	126					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCATGGCGGTGGACAAAA	0.652													G|||	957	0.191094	0.5015	0.0634	5008	,	,		16819	0.0585		0.0517	False		,,,				2504	0.1421				p.A126A		Atlas-SNP	.											CXXC5,NS,carcinoma,0,1	CXXC5	27	1	0			c.G378A						PASS	.						68	83	78					5																	139060486		2111	4242	6353	SO:0001819	synonymous_variant	51523	exon2			CATGGCGGTGGAC	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.378G>A	5.37:g.139060486G>A		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	26	9	0.346154	NM_016463	B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	CCDS43370.1																																																																																			G|0.837;A|0.163	0.163	strong		0.652	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		A	139060486	G	A	139060486	2	1	22	1	0	0	0	0	0	0	0	1	4099	1103	39	1		1	CXXC5	5	139060486	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	793940	139060486	41854774	3156	8264										
NRG2	9542	hgsc.bcm.edu	37	chr5	139422232	139422232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttggagctggagccgccGgctgggaccagcccctgtac	15	14	0	0	rs144634106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:139422232G>A	ENST00000361474.1	-	1	647	c.423C>T	c.(421-423)gcC>gcT	p.A141A	NRG2_ENST00000541337.1_Silent_p.A141A|NRG2_ENST00000394770.1_Silent_p.A141A|NRG2_ENST00000289409.4_Silent_p.A141A|NRG2_ENST00000545385.1_Silent_p.A141A|NRG2_ENST00000289422.7_Silent_p.A141A|NRG2_ENST00000358522.3_Silent_p.A141A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	141					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCCGGCTGGGACCA	0.697													G|||	134	0.0267572	0.0272	0.0403	5008	,	,		7889	0.0		0.0616	False		,,,				2504	0.0082				p.A141A		Atlas-SNP	.											.	NRG2	69	.	0			c.C423T						PASS	.	G	,,,,	145,4055		4,137,1959	6	8	7		423,423,423,423,423	-0.9	1	5	dbSNP_134	7	503,7855		16,471,3692	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NRG2	NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2	,,,,	20,608,5651	AA,AG,GG		6.0182,3.4524,5.1601	,,,,	141/785,141/851,141/845,141/859,141/853	139422232	648,11910	2100	4179	6279	SO:0001819	synonymous_variant	9542	exon1			GCCGCCGGCTGGG		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.423C>T	5.37:g.139422232G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	48	30	0.625	NM_013982		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																			G|0.965;A|0.035	0.035	strong		0.697	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139422232	G	A	139422232	2	1	22	1	0	0	0	0	0	0	0	1	10648	1103	39	1		1	NRG2	5	139422232	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	361746	139422232	41493028	3157	8265										
HBEGF	1839	hgsc.bcm.edu	37	chr5	139722345	139722345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttcttctttcttttcccGtgctcctccttgtttggtgt	6	13	3	0	rs2074611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:139722345G>A	ENST00000230990.6	-	3	575	c.273C>T	c.(271-273)caC>caT	p.H91H	HBEGF_ENST00000507104.1_Silent_p.H91H	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	91					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)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.H91H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTTTCCCGTGCTCCTCCT	0.463													G|||	646	0.128994	0.2292	0.0591	5008	,	,		20476	0.1012		0.0646	False		,,,				2504	0.138				p.H91H		Atlas-SNP	.											HBEGF,NS,carcinoma,0,1	HBEGF	12	1	1	Substitution - coding silent(1)	stomach(1)	c.C273T						PASS	.	G		802,3604	323.4+/-298.1	71,660,1472	357	372	367		273	-3	0	5	dbSNP_96	367	611,7989	160.0+/-213.2	17,577,3706	no	coding-synonymous	HBEGF	NM_001945.2		88,1237,5178	AA,AG,GG		7.1047,18.2025,10.8642		91/209	139722345	1413,11593	2203	4300	6503	SO:0001819	synonymous_variant	1839	exon3			TTTCCCGTGCTCC		CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"Diphtheria toxin receptor (heparin-binding EGF-like growth factor)", "heparin-binding epidermal growth factor"	126150	"diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.273C>T	5.37:g.139722345G>A		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	273	126	0.461538	NM_001945	B2R821	Silent	SNP	ENST00000230990.6	37	CCDS4223.1																																																																																			T|0.002;G|0.881;C|0.008;A|0.110	0.110	strong		0.463	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251665.2	NM_001945		A	139722345	G	A	139722345	2	1	22	1	0	0	0	0	0	0	0	1	6981	1136	40	1		1	HBEGF	5	139722345	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	300113	139722345	41192915	3158	8266										
CD14	929	hgsc.bcm.edu	37	chr5	140011468	140011468	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccccgggccccttggagCagcaccagggttcccgacac	12	17	0	0	rs4914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140011468C>G	ENST00000302014.6	-	2	1730	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L	CD14_ENST00000401743.2_Silent_p.L367L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	367					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTTGGAGCAGCACCAGGG	0.612													C|||	319	0.0636981	0.0651	0.072	5008	,	,		17850	0.0238		0.1093	False		,,,				2504	0.0501				p.L367L		Atlas-SNP	.											.	CD14	20	.	0			c.G1101C						PASS	.	C	,,,	342,4064	170.5+/-200.9	16,310,1877	56	62	60		1101,1101,1101,1101	4.5	1	5	dbSNP_52	60	993,7607	209.1+/-250.4	58,877,3365	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD14	NM_000591.3,NM_001040021.2,NM_001174104.1,NM_001174105.1	,,,	74,1187,5242	GG,GC,CC		11.5465,7.7621,10.2645	,,,	367/376,367/376,367/376,367/376	140011468	1335,11671	2203	4300	6503	SO:0001819	synonymous_variant	929	exon3			TTGGAGCAGCACC		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.1101G>C	5.37:g.140011468C>G		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	185	99	0.535135	NM_001174105	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	CCDS4232.1																																																																																			C|0.905;G|0.095	0.095	strong		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		G	140011468	C	G	140011468	2	3	22	1	0	0	0	0	0	0	0	1	2964	697	25	4		4	CD14	5	140011468	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	289123	140011468	40903792	3159	8267										
WDR55	54853	hgsc.bcm.edu	37	chr5	140048792	140048792	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgcatggttccagtcacCgagagtctgctgtgtactgg	13	10	2	1	rs35080423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140048792C>A	ENST00000358337.5	+	6	1026	c.789C>A	c.(787-789)acC>acA	p.T263T	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	263					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGTCACCGAGAGTCTGC	0.547													C|||	51	0.0101837	0.0378	0.0014	5008	,	,		21176	0.0		0.0	False		,,,				2504	0.0				p.T263T		Atlas-SNP	.											WDR55,NS,carcinoma,+2,1	WDR55	27	1	0			c.C789A						scavenged	.	C		113,4293	88.2+/-126.9	3,107,2093	84	77	79		789	-10.2	0.1	5	dbSNP_126	79	0,8600		0,0,4300	no	coding-synonymous	WDR55	NM_017706.4		3,107,6393	AA,AC,CC		0.0,2.5647,0.8688		263/384	140048792	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	54853	exon6			AGTCACCGAGAGT	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.789C>A	5.37:g.140048792C>A		Somatic	70	1	0.0142857		WXS	Illumina HiSeq	Phase_I	61	32	0.52459	NM_017706	Q9NXK4	Silent	SNP	ENST00000358337.5	37	CCDS4235.1																																																																																			C|0.991;A|0.009	0.009	strong		0.547	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		A	140048792	C	A	140048792	2	1	22	1	0	0	0	0	0	0	0	1	17304	639	23	4		4	WDR55	5	140048792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37324	140048792	40866468	3160	8268										
DND1	373863	hgsc.bcm.edu	37	chr5	140051009	140051009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcccatcccggccatctaGggtcagcacaacccagatga	9	15	2	2	rs146252353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140051009G>A	ENST00000542735.1	-	4	974	c.931C>T	c.(931-933)Cta>Tta	p.L311L	WDR55_ENST00000520764.1_3'UTR|WDR55_ENST00000358337.5_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	311					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCATCTAGGGTCAGCACA	0.622													G|||	28	0.00559105	0.0212	0.0	5008	,	,		20864	0.0		0.0	False		,,,				2504	0.0				p.L311L		Atlas-SNP	.											.	DND1	15	.	0			c.C931T						PASS	.	G		78,4010		0,78,1966	22	23	23		931	-1.9	0	5	dbSNP_134	23	0,8094		0,0,4047	no	coding-synonymous	DND1	NM_194249.2		0,78,6013	AA,AG,GG		0.0,1.908,0.6403		311/354	140051009	78,12104	2044	4047	6091	SO:0001819	synonymous_variant	373863	exon4			CATCTAGGGTCAG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.931C>T	5.37:g.140051009G>A		Somatic	407	0	0		WXS	Illumina HiSeq	Phase_I	406	202	0.497537	NM_194249		Silent	SNP	ENST00000542735.1	37	CCDS4236.1																																																																																			G|0.994;A|0.006	0.006	strong		0.622	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140051009	G	A	140051009	2	1	22	1	0	0	0	0	0	0	0	1	4666	991	35	2		2	DND1	5	140051009	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2217	140051009	40864251	3161	8269										
PCDHA1	56147	hgsc.bcm.edu	37	chr5	140167175	140167175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgggacgggggctcgcctTcgctgtgggccacggccagg	19	14	0	0	rs61743801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140167175T>C	ENST00000504120.2	+	1	1300	c.1300T>C	c.(1300-1302)Tcg>Ccg	p.S434P	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S434P|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S434P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCGCCTTCGCTGTGGGC	0.627													.|||	72	0.014377	0.0537	0.0014	5008	,	,		17483	0.0		0.0	False		,,,				2504	0.0				p.S434P		Atlas-SNP	.											.	PCDHA1	387	.	0			c.T1300C						PASS	.	T	PRO/SER,PRO/SER,PRO/SER	236,4170	135.3+/-171.4	10,216,1977	82	88	86		1300,1300,1300	-3.1	0.7	5	dbSNP_129	86	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	74,74,74	10,217,6275	CC,CT,TT		0.0116,5.3563,1.8225	,,	434/951,434/808,434/687	140167175	237,12767	2203	4299	6502	SO:0001583	missense	56147	exon1			TCGCCTTCGCTGT	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1300T>C	5.37:g.140167175T>C	ENSP00000420840:p.Ser434Pro	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	166	81	0.487952	NM_031411	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	t	4.310	0.056796	0.08339	0.053563	1.16E-4	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.44881	0.91;0.91;0.91	3.89	-3.14	0.05250	Cadherin (5);Cadherin-like (1);	0.679068	0.12024	N	0.506656	T	0.02047	0.0064	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.17852	0.024;0.002;0.023	B;B;B	0.32022	0.139;0.002;0.03	T	0.30563	-0.9974	10	0.13853	T	0.58	.	2.4978	0.04626	0.1149:0.2142:0.4488:0.2221	rs61743801	434;434;434	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	P	434	ENSP00000420840:S434P;ENSP00000378129:S434P;ENSP00000367373:S434P	ENSP00000367373:S434P	S	+	1	0	PCDHA1	140147359	0.000000	0.05858	0.741000	0.31004	0.719000	0.41307	-0.511000	0.06321	-0.192000	0.10432	0.369000	0.22263	TCG	T|0.983;C|0.017	0.017	strong		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		C	140167175	T	C	140167175	3	2	22	1	0	0	0	0	1	0	0	0	11519	1783	62	2	1302	2	PCDHA1	5	140167175	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	116166	140167175	40748085	3162	8270										
PCDHA1	56147	hgsc.bcm.edu	37	chr5	140167520	140167520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcctctgggcagcaacGtgacgctgcaggtgttcgtg	15	12	1	1	rs150585640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140167520G>A	ENST00000504120.2	+	1	1645	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V549M	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCAACGTGACGCTGCA	0.672													.|||	71	0.0141773	0.053	0.0014	5008	,	,		16239	0.0		0.0	False		,,,				2504	0.0				p.V549M		Atlas-SNP	.											.	PCDHA1	387	.	0			c.G1645A						PASS	.	G	MET/VAL,MET/VAL,	233,4173	136.1+/-172.1	9,215,1979	78	81	80		1645,1645,	2.7	1	5	dbSNP_134	80	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,intron	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	21,21,	9,216,6273	AA,AG,GG		0.0116,5.2882,1.8006	,,	549/951,549/808,	140167520	234,12762	2203	4295	6498	SO:0001583	missense	56147	exon1			AGCAACGTGACGC	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1645G>A	5.37:g.140167520G>A	ENSP00000420840:p.Val549Met	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	120	60	0.5	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	g	16.14	3.037929	0.54896	0.052882	1.16E-4	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53640	0.61;0.61	3.59	2.71	0.32032	Cadherin (5);Cadherin-like (1);	0.209202	0.23219	N	0.050600	T	0.16896	0.0406	M	0.83384	2.64	0.23997	N	0.996224	D;D	0.65815	0.995;0.988	P;P	0.50192	0.634;0.501	T	0.25847	-1.0120	10	0.66056	D	0.02	.	7.0109	0.24861	0.0968:0.1747:0.7285:0.0	.	549;549	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	M	549	ENSP00000420840:V549M;ENSP00000367373:V549M	ENSP00000367373:V549M	V	+	1	0	PCDHA1	140147704	0.967000	0.33354	0.987000	0.45799	0.935000	0.57460	2.495000	0.45337	0.621000	0.30232	0.555000	0.69702	GTG	G|0.961;A|0.039	0.039	strong		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167520	G	A	140167520	3	1	22	1	0	0	0	0	1	0	0	0	11519	1145	40	1	1647	1	PCDHA1	5	140167520	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	345	140167520	40747740	3163	8271										
PCDHA2	56146	hgsc.bcm.edu	37	chr5	140176840	140176840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtgctctggggaggaccCccccaagacggacctcatgg	15	13	2	1	rs6858913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140176840C>T	ENST00000526136.1	+	1	2291	c.2291C>T	c.(2290-2292)cCc>cTc	p.P764L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P764L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P764L|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	764	5 X 4 AA repeats of P-X-X-P.		P -> L (in dbSNP:rs6858913).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGGACCCCCCCAAGACG	0.617													.|||	71	0.0141773	0.053	0.0014	5008	,	,		14850	0.0		0.0	False		,,,				2504	0.0				p.P764L		Atlas-SNP	.											.	PCDHA2	404	.	0			c.C2291T						PASS	.	C	,LEU/PRO,,LEU/PRO	225,4181	134.9+/-171.1	9,207,1987	47	51	49		,2291,,2291	1	0.7	5	dbSNP_116	49	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,intron,missense	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,98,,98	9,208,6286	TT,TC,CC		0.0116,5.1067,1.7377	,,,	,764/949,,764/825	140176840	226,12780	2203	4300	6503	SO:0001583	missense	56146	exon1			AGGACCCCCCCAA	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2291C>T	5.37:g.140176840C>T	ENSP00000431748:p.Pro764Leu	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	305	143	0.468852	NM_031495	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	c	5.110	0.205978	0.09704	0.051067	1.16E-4	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.11930	2.73;2.73;2.73	4.0	1.05	0.20165	.	2.011240	0.03846	N	0.271521	T	0.01940	0.0061	L	0.42487	1.325	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.007	B;B;B	0.15052	0.012;0.003;0.012	T	0.29792	-1.0000	10	0.35671	T	0.21	.	6.6028	0.22710	0.0:0.6237:0.131:0.2453	rs6858913;rs52809059;rs6858913	764;764;764	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	764	ENSP00000430584:P764L;ENSP00000367372:P764L;ENSP00000431748:P764L	ENSP00000367372:P764L	P	+	2	0	PCDHA2	140157024	0.000000	0.05858	0.736000	0.30914	0.471000	0.32888	0.336000	0.19823	0.265000	0.21872	-0.225000	0.12378	CCC	C|0.982;T|0.018	0.018	strong		0.617	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140176840	C	T	140176840	3	4	22	1	0	0	0	0	1	0	0	0	11524	623	22	2	2293	2	PCDHA2	5	140176840	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9320	140176840	40738420	3164	8272										
PCDHA3	56145	hgsc.bcm.edu	37	chr5	140180964	140180964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctggcggagctggtgcCgcgcctgttccgggtggcgt	20	11	0	0	rs7731327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140180964C>A	ENST00000522353.2	+	1	182	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	PCDHA3_ENST00000532566.2_Missense_Mutation_p.P61Q|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> Q (in dbSNP:rs7731327).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.612													.|||	285	0.0569089	0.208	0.013	5008	,	,		16771	0.0		0.001	False		,,,				2504	0.0				p.P61Q		Atlas-SNP	.											PCDHA3_ENST00000522353,NS,carcinoma,-1,2	PCDHA3	396	2	0			c.C182A						PASS	.	C	,,GLN/PRO,,GLN/PRO	789,3617		66,657,1480	51	63	59		,,182,,182	3.6	1	5	dbSNP_116	59	5,8583		0,5,4289	no	intron,intron,missense,intron,missense	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,76,,76	66,662,5769	AA,AC,CC		0.0582,17.9074,6.1105	,,,,	,,61/951,,61/825	140180964	794,12200	2203	4294	6497	SO:0001583	missense	56145	exon1			TGGTGCCGCGCCT	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.182C>A	5.37:g.140180964C>A	ENSP00000429808:p.Pro61Gln	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	84	32	0.380952	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	88	0.040293040293040296	82	0.16666666666666666	6	0.016574585635359115	0	0.0	0	0.0	c	13.35	2.210033	0.39003	0.179074	5.82E-4	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.26067	1.76;1.76	4.48	3.59	0.41128	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.203527	0.23851	U	0.043957	T	0.00039	0.0001	M	0.66297	2.02	0.46798	P	8.000000000000229E-4	P;P	0.42871	0.792;0.48	B;B	0.37508	0.224;0.252	T	0.16158	-1.0412	9	0.62326	D	0.03	.	13.352	0.60607	0.0:0.9179:0.0:0.0821	rs7731327	61;61	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Q	61	ENSP00000429808:P61Q;ENSP00000434086:P61Q	ENSP00000429808:P61Q	P	+	2	0	PCDHA3	140161148	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-0.420000	0.07062	2.228000	0.72767	0.586000	0.80456	CCG	C|0.949;A|0.051	0.051	strong		0.612	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140180964	C	A	140180964	3	1	22	1	0	0	0	0	1	0	0	0	11525	652	23	4	184	4	PCDHA3	5	140180964	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4124	140180964	40734296	3165	8273										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188023	140188023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgccctggaccgcgagagCgtgtcagcctatgagctggt	15	11	1	2	rs7702779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140188023C>T	ENST00000530339.1	+	1	1251	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.S417S|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S417S|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGAGAGCGTGTCAGCCT	0.612													.|||	285	0.0569089	0.208	0.013	5008	,	,		19748	0.0		0.001	False		,,,				2504	0.0				p.S417S		Atlas-SNP	.											.	PCDHA4	419	.	0			c.C1251T						PASS	.	C	,,,,,	797,3609	321.8+/-297.3	66,665,1472	155	146	149		,,,1251,,1251	-9	0	5	dbSNP_116	149	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	66,667,5770	TT,TC,CC		0.0233,18.089,6.1433	,,,,,	,,,417/948,,417/799	140188023	799,12207	2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			CGAGAGCGTGTCA	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1251C>T	5.37:g.140188023C>T		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	295	151	0.511864	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			C|0.944;T|0.056	0.056	strong		0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188023	C	T	140188023	2	4	22	1	0	0	0	0	0	0	0	1	11526	767	27	1		1	PCDHA4	5	140188023	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7059	140188023	40727237	3166	8274										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188392	140188392	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgaccgctcgcgatgcCggcgtgccacctctgggcag	15	15	1	1	rs7707144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140188392C>G	ENST00000530339.1	+	1	1620	c.1620C>G	c.(1618-1620)gcC>gcG	p.A540A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.A540A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.A540A|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCGATGCCGGCGTGCCAC	0.657													.|||	286	0.0571086	0.208	0.013	5008	,	,		17478	0.001		0.001	False		,,,				2504	0.0				p.A540A		Atlas-SNP	.											PCDHA4_ENST00000530339,NS,carcinoma,0,2	PCDHA4	419	2	0			c.C1620G						PASS	.	G	,,,,,	748,3658		64,620,1519	60	68	65		,,,1620,,1620	-0.6	1	5	dbSNP_116	65	2,8596		0,2,4297	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	64,622,5816	GG,GC,CC		0.0233,16.9768,5.7675	,,,,,	,,,540/948,,540/799	140188392	750,12254	2203	4299	6502	SO:0001819	synonymous_variant	56144	exon1			CGATGCCGGCGTG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1620C>G	5.37:g.140188392C>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	92	29	0.315217	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			C|0.937;G|0.063	0.063	strong		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		G	140188392	C	G	140188392	2	3	22	1	0	0	0	0	0	0	0	1	11526	639	23	4		4	PCDHA4	5	140188392	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	369	140188392	40726868	3167	8275										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140201418	140201418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgctgctctggcttctcCttgcctactggaaggcaggg	12	13	2	0	rs386692889|rs56285019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140201418C>T	ENST00000529859.1	+	1	58	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.L20F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.L20F|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	20					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTTCTCCTTGCCTACTG	0.567													.|||	264	0.0527157	0.1952	0.0058	5008	,	,		14691	0.001		0.001	False		,,,				2504	0.0				p.L20F		Atlas-SNP	.											.	PCDHA5	361	.	0			c.C58T						PASS	.	C	,,,,PHE/LEU,,PHE/LEU	13,4393		4,5,2194	61	68	66		,,,,58,,58	2	0	5	dbSNP_129	66	0,8600		0,0,4300	yes	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,22,,22	4,5,6494	TT,TC,CC		0.0,0.2951,0.1	,,,,,,	,,,,20/937,,20/817	140201418	13,12993	2203	4300	6503	SO:0001583	missense	56143	exon1			CTTCTCCTTGCCT	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.58C>T	5.37:g.140201418C>T	ENSP00000436557:p.Leu20Phe	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	92	50	0.543478	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	76	0.0347985347985348	73	0.1483739837398374	3	0.008287292817679558	0	0.0	0	0.0	C	2.978	-0.211037	0.06140	0.002951	0.0	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.54479	0.6;0.57;0.6	3.81	2.0	0.26442	.	.	.	.	.	T	0.00271	0.0008	L	0.52823	1.66	0.80722	P	0.0	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.001;0.002;0.003	T	0.12889	-1.0530	8	0.11794	T	0.64	.	7.5552	0.27820	0.0:0.7302:0.0:0.2698	rs56285019;rs61730628	20;20;20	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	F	20	ENSP00000433416:L20F;ENSP00000436557:L20F;ENSP00000367366:L20F	ENSP00000367366:L20F	L	+	1	0	PCDHA5	140181602	0.000000	0.05858	0.012000	0.15200	0.358000	0.29455	-0.212000	0.09319	0.224000	0.20940	0.543000	0.68304	CTT	C|0.952;T|0.048	0.048	strong		0.567	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140201418	C	T	140201418	3	4	22	1	0	0	0	0	1	0	0	0	11527	681	24	2	60	2	PCDHA5	5	140201418	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13026	140201418	40713842	3168	8276										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140202132	140202132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaaaatgcaccaagtgggAcattagttattaaactgaac	9	6	0	1	rs61730633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140202132A>G	ENST00000529859.1	+	1	772	c.772A>G	c.(772-774)Aca>Gca	p.T258A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T258A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T258A|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAGTGGGACATTAGTTAT	0.353													.|||	28	0.00559105	0.0212	0.0	5008	,	,		19252	0.0		0.0	False		,,,				2504	0.0				p.T258A		Atlas-SNP	.											.	PCDHA5	361	.	0			c.A772G						PASS	.	A	,,,,ALA/THR,,ALA/THR	104,4302	76.8+/-115.0	0,104,2099	62	65	64		,,,,772,,772	4.1	0.1	5	dbSNP_129	64	0,8598		0,0,4299	yes	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,58,,58	0,104,6398	GG,GA,AA		0.0,2.3604,0.7998	,,,,,,	,,,,258/937,,258/817	140202132	104,12900	2203	4299	6502	SO:0001583	missense	56143	exon1			AGTGGGACATTAG	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.772A>G	5.37:g.140202132A>G	ENSP00000436557:p.Thr258Ala	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	126	52	0.412698	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	A	15.50	2.851517	0.51270	0.023604	0.0	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.57107	0.42;0.42;0.42	4.11	4.11	0.48088	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46983	0.1421	M	0.82517	2.595	0.29191	N	0.875842	P;P;P	0.49862	0.929;0.913;0.913	P;P;B	0.62382	0.901;0.596;0.444	T	0.58042	-0.7706	9	0.62326	D	0.03	.	8.9776	0.35946	0.9105:0.0:0.0895:0.0	rs61730633	258;258;258	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	A	258	ENSP00000433416:T258A;ENSP00000436557:T258A;ENSP00000367366:T258A	ENSP00000367366:T258A	T	+	1	0	PCDHA5	140182316	0.275000	0.24201	0.125000	0.21846	0.947000	0.59692	2.543000	0.45752	1.624000	0.50355	0.533000	0.62120	ACA	A|0.993;G|0.007	0.007	strong		0.353	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		G	140202132	A	G	140202132	3	3	22	1	0	0	0	0	1	0	0	0	11527	275	10	2	774	2	PCDHA5	5	140202132	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	714	140202132	40713128	3169	8277										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140202418	140202418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagagatggccataaccaCccttttcctgcctgtcaaag	7	15	1	1	rs61735511	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140202418C>A	ENST00000529859.1	+	1	1058	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T353N|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T353N|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATAACCACCCTTTTCCTG	0.502													.|||	317	0.0632987	0.2322	0.013	5008	,	,		19770	0.0		0.001	False		,,,				2504	0.0				p.T353N		Atlas-SNP	.											PCDHA5_ENST00000529859,NS,carcinoma,-1,2	PCDHA5	361	2	0			c.C1058A						PASS	.	C	,,,,ASN/THR,,ASN/THR	861,3545	337.0+/-304.7	78,705,1420	87	80	83		,,,,1058,,1058	4	0.2	5	dbSNP_129	83	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,65,,65	78,707,5718	AA,AC,CC		0.0233,19.5415,6.6354	,,,,,,	,,,,353/937,,353/817	140202418	863,12143	2203	4300	6503	SO:0001583	missense	56143	exon1			TAACCACCCTTTT	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1058C>A	5.37:g.140202418C>A	ENSP00000436557:p.Thr353Asn	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	168	86	0.511905	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	96	0.04395604395604396	90	0.18292682926829268	6	0.016574585635359115	0	0.0	0	0.0	C	12.70	2.018078	0.35606	0.195415	2.33E-4	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.61510	0.1;0.1;0.24	3.97	3.97	0.46021	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	L	0.28400	0.85	0.35989	P	0.16346499999999997	B;B;B	0.25743	0.024;0.133;0.063	B;B;B	0.28709	0.093;0.043;0.042	T	0.16928	-1.0386	8	0.87932	D	0	.	16.4	0.83637	0.0:1.0:0.0:0.0	rs61735511	353;353;353	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	353	ENSP00000433416:T353N;ENSP00000436557:T353N;ENSP00000367366:T353N	ENSP00000367366:T353N	T	+	2	0	PCDHA5	140182602	1.000000	0.71417	0.240000	0.24138	0.827000	0.46813	7.800000	0.85949	1.900000	0.55004	0.655000	0.94253	ACC	C|0.940;A|0.060	0.060	strong		0.502	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202418	C	A	140202418	3	1	22	1	0	0	0	0	1	0	0	0	11527	507	18	4	1060	4	PCDHA5	5	140202418	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	286	140202418	40712842	3170	8278										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140202821	140202821	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggacgcgcaggagaacgcCctggtgtcctactcgctggt	15	13	0	1	rs80008076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140202821C>G	ENST00000529859.1	+	1	1461	c.1461C>G	c.(1459-1461)gcC>gcG	p.A487A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A487A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A487A|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A487A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	72	0.014377	0.0537	0.0014	5008	,	,		18355	0.0		0.0	False		,,,				2504	0.0				p.A487A		Atlas-SNP	.											PCDHA5_ENST00000529859,NS,carcinoma,0,2	PCDHA5	361	2	2	Substitution - coding silent(2)	lung(2)	c.C1461G						PASS	.	G	,,,,,,	227,4179	797.7+/-415.4	9,209,1985	68	73	71		,,,,1461,,1461	2	1	5	dbSNP_131	71	1,8599	814.7+/-407.0	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	9,210,6284	GG,GC,CC		0.0116,5.1521,1.753	,,,,,,	,,,,487/937,,487/817	140202821	228,12778	2203	4300	6503	SO:0001819	synonymous_variant	56143	exon1			GAACGCCCTGGTG	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1461C>G	5.37:g.140202821C>G		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	276	145	0.525362	NM_018908	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																			C|0.983;G|0.017	0.017	strong		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		G	140202821	C	G	140202821	2	3	22	1	0	0	0	0	0	0	0	1	11527	610	22	4		4	PCDHA5	5	140202821	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	403	140202821	40712439	3171	8279										
PCDHA6	56142	hgsc.bcm.edu	37	chr5	140209429	140209429	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgagctggtgccgcggtcaCtgggtgcaggccaagtggtg	19	10	1	0	rs60309716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140209429C>G	ENST00000529310.1	+	1	1867	c.1753C>G	c.(1753-1755)Ctg>Gtg	p.L585V	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> V (in dbSNP:rs60309716).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGGTCACTGGGTGCAGG	0.677													.|||	317	0.0632987	0.2322	0.013	5008	,	,		16721	0.0		0.001	False		,,,				2504	0.0				p.L585V		Atlas-SNP	.											.	PCDHA6	442	.	0			c.C1753G						PASS	.	G	,,,,,VAL/LEU,,VAL/LEU,	863,3543	743.4+/-411.5	78,707,1418	87	87	87		,,,,,1753,,1753,	1	0	5	dbSNP_129	87	2,8596	819.0+/-406.8	0,2,4297	no	intron,intron,intron,intron,intron,missense,intron,missense,intron	PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_031411.1,NM_031848.1,NM_031849.1	,,,,,32,,32,	78,709,5715	GG,GC,CC		0.0233,19.5869,6.6518	,,,,,,,,	,,,,,585/951,,585/804,	140209429	865,12139	2203	4299	6502	SO:0001583	missense	56142	exon1			CGGTCACTGGGTG	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1753C>G	5.37:g.140209429C>G	ENSP00000433378:p.Leu585Val	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	274	141	0.514599	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	96	0.04395604395604396	90	0.18292682926829268	6	0.016574585635359115	0	0.0	0	0.0	G	0.001	-3.111828	0.00032	0.195869	2.33E-4	ENSG00000081842	ENST00000529310	T	0.50001	0.76	3.87	0.98	0.19750	Cadherin (2);Cadherin-like (1);	0.000000	0.33199	N	0.005169	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19484	-1.0304	9	0.07482	T	0.82	.	3.3104	0.07015	0.0814:0.2713:0.3691:0.2783	rs60309716;rs61730776	585;585	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	V	585	ENSP00000433378:L585V	ENSP00000433378:L585V	L	+	1	2	PCDHA6	140189613	0.013000	0.17824	0.005000	0.12908	0.002000	0.02628	1.103000	0.31062	-0.149000	0.11215	-0.671000	0.03813	CTG	C|0.940;G|0.060	0.060	strong		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		G	140209429	C	G	140209429	3	3	22	1	0	0	0	0	1	0	0	0	11528	564	20	4	1755	4	PCDHA6	5	140209429	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6608	140209429	40705831	3172	8280										
PCDHA6	56142	hgsc.bcm.edu	37	chr5	140209593	140209593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accactcgtgtcctggacgaAgcggactctccgcgccaccg	11	17	1	0	rs61730636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140209593A>G	ENST00000529310.1	+	1	2031	c.1917A>G	c.(1915-1917)gaA>gaG	p.E639E	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGACGAAGCGGACTCTC	0.667													.|||	317	0.0632987	0.2322	0.013	5008	,	,		16276	0.0		0.001	False		,,,				2504	0.0				p.E639E		Atlas-SNP	.											PCDHA6_ENST00000529310,NS,carcinoma,+2,6	PCDHA6	442	6	0			c.A1917G						scavenged	.	A	,,,,,,,,	857,3549	328.0+/-300.3	78,701,1424	58	66	64		,,,,,1917,,1917,	0.9	0.6	5	dbSNP_129	64	2,8596	2.2+/-6.3	0,2,4297	no	intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous,intron	PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_031411.1,NM_031848.1,NM_031849.1	,,,,,,,,	78,703,5721	GG,GA,AA		0.0233,19.4507,6.6057	,,,,,,,,	,,,,,639/951,,639/804,	140209593	859,12145	2203	4299	6502	SO:0001819	synonymous_variant	56142	exon1			GGACGAAGCGGAC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1917A>G	5.37:g.140209593A>G		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	147	72	0.489796	NM_018909	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																			A|0.940;G|0.060	0.060	strong		0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		G	140209593	A	G	140209593	2	3	22	1	0	0	0	0	0	0	0	1	11528	69	3	3		3	PCDHA6	5	140209593	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	164	140209593	40705667	3173	8281										
PCDHA7	56141	hgsc.bcm.edu	37	chr5	140216125	140216125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccctgctgctgtacacGgcgttgcggtgctcagcgcc	12	15	1	0	rs61730621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140216125G>A	ENST00000525929.1	+	1	2157	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.T719T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	719					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACGGCGTTGCGGT	0.612													.|||	74	0.0147764	0.0552	0.0014	5008	,	,		18171	0.0		0.0	False		,,,				2504	0.0				p.T719T	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											.	PCDHA7	367	.	0			c.G2157A						PASS	.	G	,,,,,,,,,	237,4169	140.8+/-176.2	15,207,1981	103	87	92		,,,,,,2157,,,2157	-3.3	0.4	5	dbSNP_129	92	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,coding-synonymous	PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_031411.1,NM_031849.1,NM_031852.1	,,,,,,,,,	15,208,6280	AA,AG,GG		0.0116,5.379,1.8299	,,,,,,,,,	,,,,,,719/938,,,719/790	140216125	238,12768	2203	4300	6503	SO:0001819	synonymous_variant	56141	exon1			GTACACGGCGTTG	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2157G>A	5.37:g.140216125G>A		Somatic	302	1	0.00331126		WXS	Illumina HiSeq	Phase_I	338	183	0.54142	NM_031852	O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																			G|0.982;A|0.018	0.018	strong		0.612	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140216125	G	A	140216125	2	1	22	1	0	0	0	0	0	0	0	1	11529	1103	39	1		1	PCDHA7	5	140216125	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6532	140216125	40699135	3174	8282										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140222430	140222430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctcgctgtcgagctacatTtcggtgcacacggagagcgg	14	12	0	1	rs6873763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140222430T>G	ENST00000531613.1	+	1	1524	c.1524T>G	c.(1522-1524)atT>atG	p.I508M	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I508M|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTACATTTCGGTGCACA	0.687													.|||	350	0.0698882	0.2564	0.0144	5008	,	,		12674	0.0		0.001	False		,,,				2504	0.0				p.I508M		Atlas-SNP	.											.	PCDHA8	366	.	0			c.T1524G						PASS	.	T	,,,,,,,MET/ILE,,,MET/ILE	994,3394	710.8+/-407.9	169,656,1369	62	70	67		,,,,,,,1524,,,1524	2.8	1	5	dbSNP_116	67	4,8526	800.3+/-407.4	0,4,4261	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,10,,,10	169,660,5630	GG,GT,TT		0.0469,22.6527,7.7257	,,,,,,,,,,	,,,,,,,508/951,,,508/815	140222430	998,11920	2194	4265	6459	SO:0001583	missense	56140	exon1			CTACATTTCGGTG	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1524T>G	5.37:g.140222430T>G	ENSP00000434655:p.Ile508Met	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	287	156	0.543554	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	108	0.04945054945054945	101	0.20528455284552846	7	0.019337016574585635	0	0.0	0	0.0	G	11.04	1.520541	0.27211	0.226527	4.69E-4	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61274	0.12;0.12	3.72	2.85	0.33270	Cadherin (4);Cadherin-like (1);	0.000000	0.33199	U	0.005173	T	0.00073	0.0002	M	0.77486	2.375	0.43122	P	0.005152999999999963	P;P	0.45240	0.473;0.854	P;P	0.60068	0.868;0.729	T	0.06303	-1.0834	9	0.87932	D	0	.	8.018	0.30393	0.0:0.2626:0.4599:0.2775	rs6873763	508;508	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	M	508	ENSP00000434655:I508M;ENSP00000367363:I508M	ENSP00000367363:I508M	I	+	3	3	PCDHA8	140202614	0.030000	0.19436	1.000000	0.80357	0.083000	0.17756	-0.581000	0.05820	0.682000	0.31407	-0.741000	0.03529	ATT	T|0.933;G|0.067	0.067	strong		0.687	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140222430	T	G	140222430	3	3	22	1	0	0	0	0	1	0	0	0	11530	1829	64	5	1526	5	PCDHA8	5	140222430	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6305	140222430	40692830	3175	8283										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140222534	140222534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgcgcgacgcgggcgtgcCgcctctgggcagcaacgtga	17	15	1	1	rs6889154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140222534C>A	ENST00000531613.1	+	1	1628	c.1628C>A	c.(1627-1629)cCg>cAg	p.P543Q	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P543Q|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCGTGCCGCCTCTGGGC	0.687													.|||	85	0.0169728	0.0635	0.0014	5008	,	,		15269	0.0		0.0	False		,,,				2504	0.0				p.P543Q		Atlas-SNP	.											PCDHA8_ENST00000531613,NS,carcinoma,-1,6	PCDHA8	366	6	0			c.C1628A						PASS	.	C	,,,,,,,GLN/PRO,,,GLN/PRO	287,4097		26,235,1931	52	61	58		,,,,,,,1628,,,1628	3.7	0.9	5	dbSNP_116	58	2,8524		0,2,4261	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,76,,,76	26,237,6192	AA,AC,CC		0.0235,6.5465,2.2386	,,,,,,,,,,	,,,,,,,543/951,,,543/815	140222534	289,12621	2192	4263	6455	SO:0001583	missense	56140	exon1			GCGTGCCGCCTCT	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1628C>A	5.37:g.140222534C>A	ENSP00000434655:p.Pro543Gln	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	17.62	3.434270	0.62955	0.065465	2.35E-4	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.55588	0.51;0.51	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36555	U	0.002521	T	0.22166	0.0534	M	0.87180	2.865	0.46376	D	0.999014	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.66396	-0.5934	10	0.87932	D	0	.	15.9202	0.79556	0.0:1.0:0.0:0.0	rs6889154	543;543	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	Q	543	ENSP00000434655:P543Q;ENSP00000367363:P543Q	ENSP00000367363:P543Q	P	+	2	0	PCDHA8	140202718	1.000000	0.71417	0.869000	0.34112	0.258000	0.26162	7.317000	0.79018	1.790000	0.52503	0.306000	0.20318	CCG	C|0.978;A|0.022	0.022	strong		0.687	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222534	C	A	140222534	3	1	22	1	0	0	0	0	1	0	0	0	11530	652	23	4	1630	4	PCDHA8	5	140222534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104	140222534	40692726	3176	8284										
PCDHA9	9752	hgsc.bcm.edu	37	chr5	140229581	140229581	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggagcggcggttgggcGagcgctcgctgtcgagctac	19	10	0	0	rs59056023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140229581G>C	ENST00000532602.1	+	1	2534	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E501Q|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> Q (in dbSNP:rs59056023).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTTGGGCGAGCGCTCGCT	0.672													.|||	319	0.0636981	0.2307	0.0187	5008	,	,		14972	0.0		0.001	False		,,,				2504	0.0				p.E501Q	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHA9	373	.	0			c.G1501C						PASS	.	G	GLN/GLU,,,,,,,,,,,GLN/GLU	877,3515	327.2+/-299.9	127,623,1446	59	65	63		1501,,,,,,,,,,,1501	3.6	1	5	dbSNP_129	63	7,8531	4.3+/-15.6	1,5,4263	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	29,,,,,,,,,,,29	128,628,5709	CC,CG,GG		0.082,19.9681,6.8368	,,,,,,,,,,,	501/843,,,,,,,,,,,501/951	140229581	884,12046	2196	4269	6465	SO:0001583	missense	9752	exon1			TTGGGCGAGCGCT	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1501G>C	5.37:g.140229581G>C	ENSP00000436042:p.Glu501Gln	Somatic	300	1	0.00333333		WXS	Illumina HiSeq	Phase_I	346	173	0.5	NM_031857	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	129	0.059065934065934064	109	0.22154471544715448	11	0.03038674033149171	1	0.0017482517482517483	8	0.010554089709762533	G	14.45	2.539010	0.45176	0.199681	8.2E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53640	0.69;0.61	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.00039	0.0001	N	0.25245	0.725	0.49687	P	1.8499999999999073E-4	P;P	0.48834	0.916;0.904	P;P	0.61722	0.893;0.631	T	0.06162	-1.0842	9	0.87932	D	0	.	8.4611	0.32927	0.0:0.1643:0.6673:0.1684	rs59056023	501;501	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	501	ENSP00000436042:E501Q;ENSP00000367362:E501Q	ENSP00000367362:E501Q	E	+	1	0	PCDHA9	140209765	0.000000	0.05858	1.000000	0.80357	0.295000	0.27426	-0.372000	0.07504	1.973000	0.57446	0.306000	0.20318	GAG	G|0.939;C|0.061	0.061	strong		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		C	140229581	G	C	140229581	3	2	22	1	0	0	0	0	1	0	0	0	11531	1059	37	4	1503	4	PCDHA9	5	140229581	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7047	140229581	40685679	3177	8285										
PCDHA9	9752	hgsc.bcm.edu	37	chr5	140229925	140229925	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgagctgcagccagaaacGgccagcgcgagcatcccgtt	12	14	0	1	rs58792000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140229925G>C	ENST00000532602.1	+	1	2878	c.1845G>C	c.(1843-1845)acG>acC	p.T615T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.T615T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAGAAACGGCCAGCGCGA	0.687													.|||	325	0.0648962	0.2315	0.0187	5008	,	,		16120	0.0		0.006	False		,,,				2504	0.0				p.T615T	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHA9	373	.	0			c.G1845C						PASS	.	G	,,,,,,,,,,,	892,3500		144,604,1448	61	66	64		1845,,,,,,,,,,,1845	2.4	0	5	dbSNP_129	64	19,8521		1,17,4252	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	,,,,,,,,,,,	145,621,5700	CC,CG,GG		0.2225,20.3097,7.0445	,,,,,,,,,,,	615/843,,,,,,,,,,,615/951	140229925	911,12021	2196	4270	6466	SO:0001819	synonymous_variant	9752	exon1			AGAAACGGCCAGC	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1845G>C	5.37:g.140229925G>C		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	211	111	0.526066	NM_031857	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																			G|0.937;C|0.063	0.063	strong		0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		C	140229925	G	C	140229925	2	2	22	1	0	0	0	0	0	0	0	1	11531	1103	39	4		4	PCDHA9	5	140229925	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	344	140229925	40685335	3178	8286										
PCDHA10	56139	hgsc.bcm.edu	37	chr5	140237094	140237094	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggacgcgcaggagaacgcCctggtgtcctactctctggt	14	13	1	1	rs60872775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140237094C>G	ENST00000307360.5	+	1	1461	c.1461C>G	c.(1459-1461)gcC>gcG	p.A487A	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A487A|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.662													.|||	56	0.0111821	0.0416	0.0014	5008	,	,		16717	0.0		0.0	False		,,,				2504	0.0				p.A487A		Atlas-SNP	.											.	PCDHA10	358	.	0			c.C1461G						PASS	.	C	,,,,,,,,,,,,,	141,4251	805.5+/-415.8	11,119,2066	76	78	78		,1461,,,,,,,,,,,1461,1461	1.8	1	5	dbSNP_129	78	0,8546		0,0,4273	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,,,,,,,,,,,,,	11,119,6339	GG,GC,CC		0.0,3.2104,1.0898	,,,,,,,,,,,,,	,487/949,,,,,,,,,,,487/845,487/686	140237094	141,12797	2196	4273	6469	SO:0001819	synonymous_variant	56139	exon1			GAACGCCCTGGTG	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1461C>G	5.37:g.140237094C>G		Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	309	157	0.508091	NM_031859	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	CCDS54921.1																																																																																			C|0.989;G|0.011	0.011	strong		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140237094	C	G	140237094	2	3	22	1	0	0	0	0	0	0	0	1	11520	610	22	4		4	PCDHA10	5	140237094	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7169	140237094	40678166	3179	8287										
PCDHA10	56139	hgsc.bcm.edu	37	chr5	140237826	140237826	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaccgagggcgcatgtggGccggtgaagcccacgctggt	16	14	0	1	rs180990865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140237826G>C	ENST00000307360.5	+	1	2193	c.2193G>C	c.(2191-2193)ggG>ggC	p.G731G	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCATGTGGGCCGGTGAAGC	0.672													.|||	66	0.0131789	0.0492	0.0014	5008	,	,		13681	0.0		0.0	False		,,,				2504	0.0				p.G731G		Atlas-SNP	.											.	PCDHA10	358	.	0			c.G2193C						PASS	.	G	,,,,,,,,,,,,,	90,2554		6,78,1238	32	32	32		,2193,,,,,,,,,,,2193,	-2.2	0	5		32	0,4582		0,0,2291	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,,,,,,,,,,,,,	6,78,3529	CC,CG,GG		0.0,3.4039,1.2455	,,,,,,,,,,,,,	,731/949,,,,,,,,,,,731/845,	140237826	90,7136	1322	2291	3613	SO:0001819	synonymous_variant	56139	exon1			ATGTGGGCCGGTG	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2193G>C	5.37:g.140237826G>C		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	234	108	0.461538	NM_031859	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	CCDS54921.1																																																																																			G|0.989;C|0.011	0.011	strong		0.672	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		C	140237826	G	C	140237826	2	2	22	1	0	0	0	0	0	0	0	1	11520	1190	42	4		4	PCDHA10	5	140237826	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	732	140237826	40677434	3180	8288										
PCDHA12	56137	hgsc.bcm.edu	37	chr5	140256275	140256275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctacaagaattactactcGttggtgctggacagcgccct	9	12	0	1	rs73793508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140256275G>A	ENST00000398631.2	+	1	1218	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S	PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.607													.|||	65	0.0129792	0.0484	0.0014	5008	,	,		20801	0.0		0.0	False		,,,				2504	0.0				p.S406S	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											PCDHA12,NS,carcinoma,+1,1	PCDHA12	196	1	0			c.G1218A						PASS	.	G	,,,,,,,,,,,,,,,	143,4263	102.1+/-140.7	3,137,2063	190	183	185		,,,1218,,,,,,,,,,,,1218	-9.9	0	5	dbSNP_130	185	0,8596		0,0,4298	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	3,137,6361	AA,AG,GG		0.0,3.2456,1.0998	,,,,,,,,,,,,,,,	,,,406/942,,,,,,,,,,,,406/793	140256275	143,12859	2203	4298	6501	SO:0001819	synonymous_variant	56137	exon1			CTACTCGTTGGTG	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1218G>A	5.37:g.140256275G>A		Somatic	307	1	0.00325733		WXS	Illumina HiSeq	Phase_I	312	151	0.483974	NM_018903	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			G|0.990;A|0.010	0.010	strong		0.607	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256275	G	A	140256275	2	1	22	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140256275	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18449	140256275	40658985	3181	8289										
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140264091	140264091	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgctccagcgcggcaggGagttggtcgtactcgcagca	16	11	0	0	rs10076265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140264091G>C	ENST00000289272.2	+	1	2238	c.2238G>C	c.(2236-2238)ggG>ggC	p.G746G	PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G746G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	746	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGCAGGGAGTTGGTCGT	0.677													g|||	74	0.0147764	0.053	0.0058	5008	,	,		14743	0.0		0.0	False		,,,				2504	0.0				p.G746G	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											PCDHA13,colon,carcinoma,+2,1	PCDHA13	213	1	0			c.G2238C						PASS	.	G	,,,,,,,,,,,,,,,,	248,4158	136.5+/-172.5	6,236,1961	48	53	52		,,,,2238,,,,,,,,,,,,2238	2.8	1	5	dbSNP_119	52	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031865.1	,,,,,,,,,,,,,,,,	6,237,6260	CC,CG,GG		0.0116,5.6287,1.9145	,,,,,,,,,,,,,,,,	,,,,746/951,,,,,,,,,,,,746/808	140264091	249,12757	2203	4300	6503	SO:0001819	synonymous_variant	56136	exon1			GGCAGGGAGTTGG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2238G>C	5.37:g.140264091G>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	159	83	0.522013	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																			G|0.982;C|0.018	0.018	strong		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		C	140264091	G	C	140264091	2	2	22	1	0	0	0	0	0	0	0	1	11523	1161	41	4		4	PCDHA13	5	140264091	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7816	140264091	40651169	3182	8290										
PCDHAC2	56134	hgsc.bcm.edu	37	chr5	140346446	140346451	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcctctcctgctgctgtTgctgctgctgctacctggcc					rs148181752		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGCTGC	TGCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140346446_140346451delTGCTGC	ENST00000289269.5	+	1	627_632	c.95_100delTGCTGC	c.(94-102)ttgctgctg>ttg	p.32_34LLL>L	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	32					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgctgctgttgctgctgctgctACC	0.704																																					p.32_33del	Melanoma(190;638 2083 3390 11909 52360)	Pindel,Atlas-Indel	.											.	PCDHAC2	142	.	0			c.94_99del						PASS	.		,,,,,,,,,,,,,,,,,,	283,11,3622		45,0,193,0,11,1709					,,,,,,,,,,,,,,,,,,	0.2	0.7		dbSNP_134	8	13,29,7600		3,0,7,1,27,3783	no	codingComplex,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,codingComplex,intron	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_031883.2,NM_031860.1,NM_031857.1,NM_031849.1,NM_031411.1,NM_018911.2,NM_018910.2,NM_018909.2,NM_018908.2,NM_018907.2,NM_018906.2,NM_018905.2,NM_018904.2,NM_018903.2,NM_018902.3,NM_018901.2,NM_018900.2,NM_018899.5,NM_018898.3	,,,,,,,,,,,,,,,,,,	48,0,200,1,38,5492	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5496,7.5077,2.9071	,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,		296,40,11222				SO:0001651	inframe_deletion	56134	exon1			.	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.95_100delTGCTGC	5.37:g.140346452_140346457delTGCTGC	ENSP00000289269:p.Leu34_Leu35del	Somatic	90	.	.		WXS	Illumina HiSeq	Phase_I	80	17	0.213	NM_031883	Q2M3V1|Q9Y5F4	In_Frame_Del	DEL	ENST00000289269.5	37	CCDS4242.1																																																																																			TGCTGC|0.974;-|0.026	0.026	strong		0.704	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		-	140346451	TGCTGC	-	140346446	7	5	22	1	0	1	0	1	0	0	0	0	11533	1821	63	0	97	0	PCDHAC2	5	140346446	In_Frame_Del	DEL	TGCTGC	TCGA-G8-6324-01A-11D-2210-10	82355	140346446	40568814	3183	8291										
PCDHAC2	56134	hgsc.bcm.edu	37	chr5	140346670	140346670	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtcaacgagcgcattgatCgggaggcgctgtgtgagcag	16	9	1	2	rs155809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140346670C>A	ENST00000289269.5	+	1	851	c.319C>A	c.(319-321)Cgg>Agg	p.R107R	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCATTGATCGGGAGGCGCT	0.642													C|||	79	0.0157748	0.0567	0.0058	5008	,	,		18549	0.0		0.0	False		,,,				2504	0.0				p.R107R	Melanoma(190;638 2083 3390 11909 52360)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.C319A						PASS	.	C	,,,,,,,,,,,,,,,,,,	252,4154	137.7+/-173.5	5,242,1956	34	35	35		,319,,,,,,,,,,,,,,,,,319	5.7	1	5	dbSNP_79	35	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018899.5,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031883.2	,,,,,,,,,,,,,,,,,,	5,243,6255	AA,AC,CC		0.0116,5.7195,1.9453	,,,,,,,,,,,,,,,,,,	,107/1008,,,,,,,,,,,,,,,,,107/885	140346670	253,12753	2203	4300	6503	SO:0001819	synonymous_variant	56134	exon1			ATTGATCGGGAGG	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.319C>A	5.37:g.140346670C>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	28	11	0.392857	NM_031883	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																			C|0.979;A|0.021	0.021	strong		0.642	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		A	140346670	C	A	140346670	2	1	22	1	0	0	0	0	0	0	0	1	11533	875	31	4		4	PCDHAC2	5	140346670	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	224	140346670	40568590	3184	8292										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140475514	140475514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcctgactccggagacaaCggaaggatggtgtgctccat	13	10	0	2	rs73793576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140475514C>A	ENST00000194155.4	+	1	1288	c.1140C>A	c.(1138-1140)aaC>aaA	p.N380K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGAGACAACGGAAGGATGG	0.473													C|||	44	0.00878594	0.0325	0.0014	5008	,	,		19966	0.0		0.0	False		,,,				2504	0.0				p.N380K		Atlas-SNP	.											.	PCDHB2	163	.	0			c.C1140A						PASS	.	C	LYS/ASN	116,4290	90.2+/-128.9	2,112,2089	81	73	76		1140	-1.8	1	5	dbSNP_130	76	0,8600		0,0,4300	yes	missense	PCDHB2	NM_018936.2	94	2,112,6389	AA,AC,CC		0.0,2.6328,0.8919	probably-damaging	380/799	140475514	116,12890	2203	4300	6503	SO:0001583	missense	56133	exon1			AGACAACGGAAGG	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1140C>A	5.37:g.140475514C>A	ENSP00000194155:p.Asn380Lys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	138	72	0.521739	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	C	11.52	1.663243	0.29515	0.026328	0.0	ENSG00000112852	ENST00000194155	T	0.59906	0.23	5.15	-1.8	0.07907	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60945	0.2308	H	0.97390	3.995	0.35381	D	0.789909	D	0.71674	0.998	P	0.62435	0.902	T	0.82259	-0.0546	9	0.72032	D	0.01	.	12.3358	0.55067	0.0:0.4067:0.0:0.5933	.	380	Q9Y5E7	PCDB2_HUMAN	K	380	ENSP00000194155:N380K	ENSP00000194155:N380K	N	+	3	2	PCDHB2	140455698	0.014000	0.17966	0.990000	0.47175	0.260000	0.26232	-0.975000	0.03790	-0.310000	0.08766	0.655000	0.94253	AAC	C|0.991;A|0.009	0.009	strong		0.473	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		A	140475514	C	A	140475514	3	1	22	1	0	0	0	0	1	0	0	0	11542	535	19	4	1142	4	PCDHB2	5	140475514	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	128844	140475514	40439746	3185	8293										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140475763	140475763	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs142417694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140475763C>G	ENST00000194155.4	+	1	1537	c.1389C>G	c.(1387-1389)cgC>cgG	p.R463R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.637																																					p.R463R		Atlas-SNP	.											PCDHB2,NS,carcinoma,+2,2	PCDHB2	163	2	0			c.C1389G						scavenged	.						78	79	79					5																	140475763		2203	4296	6499	SO:0001819	synonymous_variant	56133	exon1			CGTCCGCGAGAAC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1389C>G	5.37:g.140475763C>G		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	196	14	0.0714286	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			C|0.029;G|0.971	0.971	strong		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		G	140475763	C	G	140475763	2	3	22	1	0	0	0	0	0	0	0	1	11542	755	27	4		4	PCDHB2	5	140475763	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	249	140475763	40439497	3186	8294										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140475958	140475958	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs371176940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140475958G>T	ENST00000194155.4	+	1	1732	c.1584G>T	c.(1582-1584)gcG>gcT	p.A528A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	5	0.000998403	0.0	0.0	5008	,	,		15707	0.0		0.0	False		,,,				2504	0.0051				p.A528A		Atlas-SNP	.											.	PCDHB2	163	.	0			c.G1584T						PASS	.						68	75	73					5																	140475958		2203	4299	6502	SO:0001819	synonymous_variant	56133	exon1			GCAGGCGTTCGAG	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1584G>T	5.37:g.140475958G>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	205	10	0.0487805	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			.	.	alt		0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140475958	G	T	140475958	2	4	22	1	0	0	0	0	0	0	0	1	11542	1132	40	4		4	PCDHB2	5	140475958	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	195	140475958	40439302	3187	8295										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503017	140503017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgccacagacagagactcGggcaccaacgcccaggtcac	11	16	1	2	rs144689137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140503017G>A	ENST00000194152.1	+	1	1437	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCGGGCACCAACG	0.667													g|||	133	0.0265575	0.0862	0.0159	5008	,	,		14724	0.0		0.008	False		,,,				2504	0.0				p.S479S		Atlas-SNP	.											PCDHB4,right_upper_lobe,carcinoma,+1,1	PCDHB4	177	1	0			c.G1437A						scavenged	.						42	48	46					5																	140503017		2202	4295	6497	SO:0001819	synonymous_variant	56131	exon1			AGACTCGGGCACC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1437G>A	5.37:g.140503017G>A		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	237	23	0.0970464	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			G|0.216;A|0.784	0.784	strong		0.667	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503017	G	A	140503017	2	1	22	1	0	0	0	0	0	0	0	1	11544	1103	39	1		1	PCDHB4	5	140503017	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27059	140503017	40412243	3188	8296										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503155	140503155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140503155G>T	ENST00000194152.1	+	1	1575	c.1575G>T	c.(1573-1575)gcG>gcT	p.A525A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.682																																					p.A525A		Atlas-SNP	.											PCDHB4,caecum,carcinoma,+1,1	PCDHB4	177	1	0			c.G1575T						scavenged	.						69	78	75					5																	140503155		2203	4298	6501	SO:0001819	synonymous_variant	56131	exon1			GCAGGCGTTCGAG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1575G>T	5.37:g.140503155G>T		Somatic	370	2	0.00540541		WXS	Illumina HiSeq	Phase_I	444	13	0.0292793	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.	.	none		0.682	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140503155	G	T	140503155	2	4	22	1	0	0	0	0	0	0	0	1	11544	1132	40	4		4	PCDHB4	5	140503155	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138	140503155	40412105	3189	8297										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503278	140503278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgtacccgctgcagaaTggctccgcgccctgcaccga	12	16	0	1	rs535776973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140503278T>C	ENST00000194152.1	+	1	1698	c.1698T>C	c.(1696-1698)aaT>aaC	p.N566N	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	566					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGAATGGCTCCGCGC	0.701													C|||	29	0.00579073	0.0219	0.0	5008	,	,		15744	0.0		0.0	False		,,,				2504	0.0				p.N566N		Atlas-SNP	.											PCDHB4,NS,carcinoma,+1,1	PCDHB4	177	1	0			c.T1698C						scavenged	.						19	23	22					5																	140503278		2185	4269	6454	SO:0001819	synonymous_variant	56131	exon1			GCAGAATGGCTCC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1698T>C	5.37:g.140503278T>C		Somatic	61	1	0.0163934		WXS	Illumina HiSeq	Phase_I	65	24	0.369231	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.	.	none		0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		C	140503278	T	C	140503278	2	2	22	1	0	0	0	0	0	0	0	1	11544	1461	51	2		2	PCDHB4	5	140503278	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	123	140503278	40411982	3190	8298										
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140530534	140530534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagattcagatccaggttttGgacatcaatgacaacgtccc	9	10	2	3	rs10076554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140530534G>C	ENST00000231136.1	+	1	696	c.696G>C	c.(694-696)ttG>ttC	p.L232F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L96F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> F (in dbSNP:rs10076554).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGGTTTTGGACATCAATG	0.587													G|||	73	0.0145767	0.0537	0.0029	5008	,	,		17505	0.0		0.0	False		,,,				2504	0.0				p.L232F		Atlas-SNP	.											.	PCDHB6	161	.	0			c.G696C						PASS	.	G	PHE/LEU	193,4213	121.3+/-158.8	4,185,2014	44	48	47		696	0.6	0.5	5	dbSNP_119	47	0,8600		0,0,4300	yes	missense	PCDHB6	NM_018939.2	22	4,185,6314	CC,CG,GG		0.0,4.3804,1.4839	possibly-damaging	232/795	140530534	193,12813	2203	4300	6503	SO:0001583	missense	56130	exon1			GGTTTTGGACATC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.696G>C	5.37:g.140530534G>C	ENSP00000231136:p.Leu232Phe	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	108	53	0.490741	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	G	14.12	2.441466	0.43326	0.043804	0.0	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01804	4.63;4.63	4.85	0.653	0.17828	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	M	0.93106	3.38	0.26654	N	0.97205	D	0.57571	0.98	D	0.63381	0.914	T	0.08432	-1.0722	9	0.72032	D	0.01	.	3.9631	0.09420	0.3108:0.0:0.4427:0.2466	rs10076554;rs61376880;rs10076554	232	Q9Y5E3	PCDB6_HUMAN	F	96;232;17	ENSP00000438466:L96F;ENSP00000231136:L232F	ENSP00000231136:L232F	L	+	3	2	PCDHB6	140510718	0.118000	0.22208	0.455000	0.27031	0.888000	0.51559	-0.354000	0.07681	0.178000	0.19917	0.561000	0.74099	TTG	G|0.986;C|0.014	0.014	strong		0.587	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		C	140530534	G	C	140530534	3	2	22	1	0	0	0	0	1	0	0	0	11546	1339	47	4	698	4	PCDHB6	5	140530534	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27256	140530534	40384726	3191	8299										
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140530852	140530852	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtcagggtcctggacgtGaatgacaatgcccctgaact	12	11	1	3	rs246708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140530852G>C	ENST00000231136.1	+	1	1014	c.1014G>C	c.(1012-1014)gtG>gtC	p.V338V	PCDHB6_ENST00000543635.1_Silent_p.V202V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGACGTGAATGACAATG	0.468													G|||	1122	0.224042	0.4909	0.2406	5008	,	,		18488	0.0407		0.169	False		,,,				2504	0.0971				p.V338V		Atlas-SNP	.											PCDHB6,NS,carcinoma,+2,1	PCDHB6	161	1	0			c.G1014C						PASS	.	G		1871,2535	542.4+/-376.0	393,1085,725	102	98	99		1014	0	0.9	5	dbSNP_79	99	1580,7020	295.5+/-302.4	152,1276,2872	no	coding-synonymous	PCDHB6	NM_018939.2		545,2361,3597	CC,CG,GG		18.3721,42.4648,26.5339		338/795	140530852	3451,9555	2203	4300	6503	SO:0001819	synonymous_variant	56130	exon1			GGACGTGAATGAC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1014G>C	5.37:g.140530852G>C		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	223	105	0.470852	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			G|0.747;C|0.253	0.253	strong		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		C	140530852	G	C	140530852	2	2	22	1	0	0	0	0	0	0	0	1	11546	1277	45	4		4	PCDHB6	5	140530852	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	318	140530852	40384408	3192	8300										
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140531408	140531408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggactacgaggccctgcagTctttcgagttccgcgtgggc	14	12	1	0	rs148897759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140531408T>G	ENST00000231136.1	+	1	1570	c.1570T>G	c.(1570-1572)Tct>Gct	p.S524A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S388A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S524A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTGCAGTCTTTCGAGTT	0.682													G|||	48	0.00958466	0.0204	0.0144	5008	,	,		16495	0.003		0.007	False		,,,				2504	0.001				p.S524A		Atlas-SNP	.											PCDHB6,trunk,malignant_melanoma,0,1	PCDHB6	161	1	1	Substitution - Missense(1)	skin(1)	c.T1570G						scavenged	.						79	85	83					5																	140531408		2203	4300	6503	SO:0001583	missense	56130	exon1			CTGCAGTCTTTCG	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1570T>G	5.37:g.140531408T>G	ENSP00000231136:p.Ser524Ala	Somatic	318	2	0.00628931		WXS	Illumina HiSeq	Phase_I	404	16	0.039604	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.556962	0.00910	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01133	5.29;5.29	4.19	4.19	0.49359	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00845	0.0028	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44574	-0.9319	9	0.02654	T	1	.	10.8888	0.46984	0.0:0.1407:0.7132:0.1461	.	524	Q9Y5E3	PCDB6_HUMAN	A	388;524;309	ENSP00000438466:S388A;ENSP00000231136:S524A	ENSP00000231136:S524A	S	+	1	0	PCDHB6	140511592	0.000000	0.05858	0.001000	0.08648	0.619000	0.37552	0.528000	0.23002	0.896000	0.36366	-0.224000	0.12420	TCT	T|0.997;G|0.003	0.003	strong		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		G	140531408	T	G	140531408	3	3	22	1	0	0	0	0	1	0	0	0	11546	1667	58	5	1572	5	PCDHB6	5	140531408	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	556	140531408	40383852	3193	8301										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553917	140553917	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacccgcacctgcccctcGcctccctggtctccatcaac					rs17844455|rs386692906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140553917G>A	ENST00000231137.3	+	1	1675	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677													G|||	759	0.151558	0.2572	0.1902	5008	,	,		16812	0.0417		0.1531	False		,,,				2504	0.093				p.A501T		Atlas-SNP	.											.	PCDHB7	231	.	0			c.G1501A						PASS	.	G	THR/ALA	1024,3382	361.4+/-315.7	114,796,1293	85	88	87		1501	-1.2	0	5	dbSNP_123	87	1416,7184	259.8+/-282.9	120,1176,3004	no	missense	PCDHB7	NM_018940.2	58	234,1972,4297	AA,AG,GG		16.4651,23.241,18.7606	benign	501/794	140553917	2440,10566	2203	4300	6503	SO:0001583	missense	56129	exon1			CCCCTCGCCTCCC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1501G>A	5.37:g.140553917G>A	ENSP00000231137:p.Ala501Thr	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	276	118	0.427536	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	327	0.14972527472527472	121	0.2459349593495935	63	0.17403314917127072	26	0.045454545454545456	117	0.15435356200527706	g	4.524	0.097227	0.08681	0.23241	0.164651	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03181	4.02	4.34	-1.25	0.09405	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.13003	0.285	0.51482	P	7.40000000000185E-5	B	0.31519	0.327	B	0.24394	0.053	T	0.49293	-0.8955	8	0.38643	T	0.18	.	2.328	0.04228	0.1632:0.1009:0.3896:0.3463	rs17844455	501	Q9Y5E2	PCDB7_HUMAN	T	501;284	ENSP00000231137:A501T	ENSP00000231137:A501T	A	+	1	0	PCDHB7	140534101	0.000000	0.05858	0.009000	0.14445	0.023000	0.10783	-1.352000	0.02619	0.062000	0.16340	-0.261000	0.10672	GCC	G|0.825;A|0.175	0.175	strong		0.677	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553917	G	A	140553917	3	1	22	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1503	1	PCDHB7	5	140553917	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22509	140553917	40361343	3194	8302	154	2								
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553919	140553919	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccgcacctgcccctcgcCtccctggtctccatcaacgc					rs17844456|rs386692906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140553919C>A	ENST00000231137.3	+	1	1677	c.1503C>A	c.(1501-1503)gcC>gcA	p.A501A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCTCGCCTCCCTGGTCT	0.672													C|||	759	0.151558	0.2572	0.1902	5008	,	,		16995	0.0417		0.1531	False		,,,				2504	0.093				p.A501A		Atlas-SNP	.											.	PCDHB7	231	.	0			c.C1503A						PASS	.	C		1021,3385	360.1+/-315.1	113,795,1295	86	89	88		1503	3.5	0	5	dbSNP_123	88	1409,7191	257.0+/-281.3	121,1167,3012	no	coding-synonymous	PCDHB7	NM_018940.2		234,1962,4307	AA,AC,CC		16.3837,23.1729,18.6837		501/794	140553919	2430,10576	2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			CCTCGCCTCCCTG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1503C>A	5.37:g.140553919C>A		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	273	116	0.424908	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			C|0.826;A|0.174	0.174	strong		0.672	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553919	C	A	140553919	2	1	22	1	0	0	0	0	0	0	0	1	11547	668	24	4		4	PCDHB7	5	140553919	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	140553919	40361341	3195	8303	154	2								
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140558384	140558384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagatctctgaggacagtCcaataagcttcctggttgtg	11	9	1	2	rs116452537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140558384C>T	ENST00000239444.2	+	1	1014	c.769C>T	c.(769-771)Cca>Tca	p.P257S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGACAGTCCAATAAGCTT	0.458													C|||	27	0.00539137	0.0204	0.0	5008	,	,		15847	0.0		0.0	False		,,,				2504	0.0				p.P257S		Atlas-SNP	.											.	PCDHB8	199	.	0			c.C769T						PASS	.	C	SER/PRO	68,4338	61.7+/-98.7	1,66,2136	209	277	254		769	3.3	0.9	5	dbSNP_132	254	0,8600		0,0,4300	yes	missense	PCDHB8	NM_019120.3	74	1,66,6436	TT,TC,CC		0.0,1.5433,0.5228	benign	257/802	140558384	68,12938	2203	4300	6503	SO:0001583	missense	56128	exon1			GACAGTCCAATAA	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.769C>T	5.37:g.140558384C>T	ENSP00000239444:p.Pro257Ser	Somatic	469	1	0.0021322		WXS	Illumina HiSeq	Phase_I	285	140	0.491228	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	c	13.53	2.263792	0.39995	0.015433	0.0	ENSG00000120322	ENST00000239444	T	0.54279	0.58	4.25	3.33	0.38152	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41971	0.1182	M	0.79011	2.435	0.32980	D	0.523474	B	0.26935	0.164	B	0.33690	0.168	T	0.67604	-0.5628	9	0.62326	D	0.03	.	13.5777	0.61883	0.0:0.8433:0.1567:0.0	.	257	Q9UN66	PCDB8_HUMAN	S	257	ENSP00000239444:P257S	ENSP00000239444:P257S	P	+	1	0	PCDHB8	140538568	0.033000	0.19621	0.908000	0.35775	0.609000	0.37215	2.681000	0.46926	1.911000	0.55334	0.585000	0.79938	CCA	C|0.994;T|0.006	0.006	strong		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		T	140558384	C	T	140558384	3	4	22	1	0	0	0	0	1	0	0	0	11548	855	30	2	771	2	PCDHB8	5	140558384	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4465	140558384	40356876	3196	8304										
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140558528	140558528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacaggagaaattcgactaAagaaacaacttgatttcgaa	8	6	0	4	rs3733694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140558528A>G	ENST00000239444.2	+	1	1158	c.913A>G	c.(913-915)Aag>Gag	p.K305E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		K -> E (in dbSNP:rs3733694).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTCGACTAAAGAAACAACT	0.393													A|||	644	0.128594	0.177	0.1787	5008	,	,		31989	0.0407		0.1531	False		,,,				2504	0.093				p.K305E		Atlas-SNP	.											.	PCDHB8	199	.	0			c.A913G						PASS	.	A	GLU/LYS	773,3633	308.8+/-290.8	70,633,1500	119	176	156		913	4.2	0	5	dbSNP_107	156	1246,7354	238.5+/-269.9	123,1000,3177	yes	missense	PCDHB8	NM_019120.3	56	193,1633,4677	GG,GA,AA		14.4884,17.5443,15.5236	benign	305/802	140558528	2019,10987	2203	4300	6503	SO:0001583	missense	56128	exon1			CGACTAAAGAAAC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.913A>G	5.37:g.140558528A>G	ENSP00000239444:p.Lys305Glu	Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	151	74	0.490066	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	292	0.1336996336996337	92	0.18699186991869918	57	0.1574585635359116	26	0.045454545454545456	117	0.15435356200527706	A	2.278	-0.365459	0.05069	0.175443	0.144884	ENSG00000120322	ENST00000239444	T	0.01725	4.67	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.72479	2.2	0.80722	P	0.0	B	0.33904	0.431	B	0.39971	0.315	T	0.42015	-0.9476	8	0.15952	T	0.53	.	9.2083	0.37302	0.8378:0.0:0.0:0.1622	rs3733694;rs17096956;rs17844492;rs3733694	305	Q9UN66	PCDB8_HUMAN	E	305	ENSP00000239444:K305E	ENSP00000239444:K305E	K	+	1	0	PCDHB8	140538712	0.000000	0.05858	0.017000	0.16124	0.014000	0.08584	-0.201000	0.09464	1.558000	0.49541	0.477000	0.44152	AAG	G|0.146;N|0.001	0.146	strong		0.393	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140558528	A	G	140558528	3	3	22	1	0	0	0	0	1	0	0	0	11548	15	1	2	915	2	PCDHB8	5	140558528	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	144	140558528	40356732	3197	8305										
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559350	140559350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcaccgagctggtgcccCgggcggccgagccgggctac	16	17	0	0	rs111768595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140559350C>T	ENST00000239444.2	+	1	1980	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCCCCGGGCGGCCGA	0.706													C|||	658	0.13139	0.2398	0.1585	5008	,	,		17380	0.0407		0.1103	False		,,,				2504	0.0808				p.R579W		Atlas-SNP	.											PCDHB8,NS,carcinoma,-1,1	PCDHB8	199	1	0			c.C1735T						scavenged	.						7	15	13					5																	140559350		2054	4075	6129	SO:0001583	missense	56128	exon1			GTGCCCCGGGCGG	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1735C>T	5.37:g.140559350C>T	ENSP00000239444:p.Arg579Trp	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	11	2	0.181818	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	282	0.12912087912087913	112	0.22764227642276422	56	0.15469613259668508	26	0.045454545454545456	88	0.11609498680738786	C	16.86	3.238758	0.58995	.	.	ENSG00000120322	ENST00000239444	T	0.68479	-0.33	4.22	-1.7	0.08159	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	M	0.92691	3.335	0.43317	P	0.004662999999999973	P	0.36587	0.559	P	0.47981	0.563	T	0.40213	-0.9575	8	0.87932	D	0	.	4.9982	0.14251	0.2904:0.5137:0.0772:0.1187	.	579	Q9UN66	PCDB8_HUMAN	W	579	ENSP00000239444:R579W	ENSP00000239444:R579W	R	+	1	2	PCDHB8	140539534	0.000000	0.05858	0.989000	0.46669	0.830000	0.47004	-1.199000	0.03032	-0.636000	0.05524	0.298000	0.19748	CGG	.	.	weak		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		T	140559350	C	T	140559350	3	4	22	1	0	0	0	0	1	0	0	0	11548	643	23	1	1737	1	PCDHB8	5	140559350	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	822	140559350	40355910	3198	8306										
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559849	140559849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacgtgaggggcaccgggaGcctgtctcagaactatcagt	15	10	2	2	rs17096961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140559849G>A	ENST00000239444.2	+	1	2479	c.2234G>A	c.(2233-2235)aGc>aAc	p.S745N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	745			S -> N (in dbSNP:rs17096961).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCACCGGGAGCCTGTCTCAG	0.597													G|||	758	0.151358	0.2572	0.1902	5008	,	,		15316	0.0407		0.1531	False		,,,				2504	0.093				p.S745N		Atlas-SNP	.											.	PCDHB8	199	.	0			c.G2234A						PASS	.	G	ASN/SER	1039,3367	384.4+/-325.3	116,807,1280	89	91	91		2234	3.7	0.2	5	dbSNP_123	91	1429,7171	275.0+/-291.5	126,1177,2997	yes	missense	PCDHB8	NM_019120.3	46	242,1984,4277	AA,AG,GG		16.6163,23.5815,18.9759	benign	745/802	140559849	2468,10538	2203	4300	6503	SO:0001583	missense	56128	exon1			CCGGGAGCCTGTC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2234G>A	5.37:g.140559849G>A	ENSP00000239444:p.Ser745Asn	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	327	0.14972527472527472	122	0.24796747967479674	63	0.17403314917127072	26	0.045454545454545456	116	0.15303430079155672	g	11.20	1.567178	0.28003	0.235815	0.166163	ENSG00000120322	ENST00000239444	T	0.49432	0.78	4.53	3.66	0.41972	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.40933	P	0.015599999999999947	B	0.02656	0.0	B	0.04013	0.001	T	0.07597	-1.0764	8	0.66056	D	0.02	.	14.1857	0.65605	0.0:0.8474:0.1526:0.0	rs17096961;rs17844509;rs17096961	745	Q9UN66	PCDB8_HUMAN	N	745	ENSP00000239444:S745N	ENSP00000239444:S745N	S	+	2	0	PCDHB8	140540033	0.626000	0.27120	0.220000	0.23810	0.001000	0.01503	3.667000	0.54547	0.895000	0.36342	-0.241000	0.12123	AGC	G|0.827;A|0.173	0.173	strong		0.597	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559849	G	A	140559849	3	1	22	1	0	0	0	0	1	0	0	0	11548	971	34	2	2236	2	PCDHB8	5	140559849	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	499	140559849	40355411	3199	8307										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140562756	140562756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgggaggaggagcctcaaCtaagattaaccctgacagcg	12	10	1	2	rs28398442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140562756C>G	ENST00000361016.2	+	1	1777	c.622C>G	c.(622-624)Cta>Gta	p.L208V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	208	Cadherin 2. {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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCCTCAACTAAGATTAAC	0.502													C|||	58	0.0115815	0.0431	0.0014	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.0				p.L208V		Atlas-SNP	.											.	PCDHB16	159	.	0			c.C622G						PASS	.	C	VAL/LEU	154,4252	107.3+/-145.7	3,148,2052	65	66	65		622	-8.7	0	5	dbSNP_125	65	0,8600		0,0,4300	yes	missense	PCDHB16	NM_020957.1	32	3,148,6352	GG,GC,CC		0.0,3.4952,1.1841	benign	208/777	140562756	154,12852	2203	4300	6503	SO:0001583	missense	57717	exon1			CCTCAACTAAGAT	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.622C>G	5.37:g.140562756C>G	ENSP00000354293:p.Leu208Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	73	39	0.534247	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	C	2.179	-0.387934	0.04932	0.034952	0.0	ENSG00000196963	ENST00000361016	T	0.49139	0.79	4.69	-8.68	0.00859	Cadherin (4);Cadherin-like (1);	0.962534	0.08410	N	0.950091	T	0.07098	0.0180	L	0.38531	1.155	0.09310	N	1	B	0.21452	0.056	B	0.27170	0.077	T	0.27606	-1.0069	10	0.41790	T	0.15	.	1.2389	0.01958	0.2632:0.3205:0.2274:0.189	rs28398442	208	Q9NRJ7	PCDBG_HUMAN	V	208	ENSP00000354293:L208V	ENSP00000354293:L208V	L	+	1	2	PCDHB16	140542940	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	-4.894000	0.00173	-1.135000	0.02895	-0.176000	0.13171	CTA	C|0.991;G|0.009	0.009	strong		0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140562756	C	G	140562756	3	3	22	1	0	0	0	0	1	0	0	0	11541	564	20	4	624	4	PCDHB16	5	140562756	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2907	140562756	40352504	3200	8308										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140563173	140563173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatgacaatcccccacagGtgaccatgtctgcactcacc	7	15	2	3	rs28664170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140563173G>T	ENST00000361016.2	+	1	2194	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> L (in dbSNP:rs28664170).		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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCCACAGGTGACCATGTC	0.522													g|||	763	0.152356	0.2579	0.1902	5008	,	,		17783	0.0407		0.1571	False		,,,				2504	0.093				p.V347L		Atlas-SNP	.											.	PCDHB16	159	.	0			c.G1039T						PASS	.	T	LEU/VAL	1042,3364	384.9+/-325.5	115,812,1276	90	95	93		1039	-2.2	0	5	dbSNP_125	93	1474,7126	281.2+/-294.9	136,1202,2962	yes	missense	PCDHB16	NM_020957.1	32	251,2014,4238	TT,TG,GG		17.1395,23.6496,19.3449	benign	347/777	140563173	2516,10490	2203	4300	6503	SO:0001583	missense	57717	exon1			CCACAGGTGACCA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1039G>T	5.37:g.140563173G>T	ENSP00000354293:p.Val347Leu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	329	0.15064102564102563	119	0.241869918699187	63	0.17403314917127072	26	0.045454545454545456	121	0.15963060686015831	G	0.041	-1.283588	0.01398	0.236496	0.171395	ENSG00000196963	ENST00000361016	T	0.01787	4.64	4.47	-2.21	0.06973	Cadherin (2);Cadherin-like (1);	0.600314	0.12637	N	0.451640	T	0.00012	0.0000	N	0.03253	-0.375	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.42498	-0.9448	9	0.02654	T	1	.	0.421	0.00456	0.2557:0.2432:0.1326:0.3685	rs28664170;rs59526747	37;347	O15199;Q9NRJ7	.;PCDBG_HUMAN	L	347	ENSP00000354293:V347L	ENSP00000354293:V347L	V	+	1	0	PCDHB16	140543357	0.000000	0.05858	0.011000	0.14972	0.556000	0.35491	-1.001000	0.03690	0.020000	0.15106	-0.188000	0.12872	GTG	C|0.000;G|0.818;T|0.182	0.182	strong		0.522	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563173	G	T	140563173	3	4	22	1	0	0	0	0	1	0	0	0	11541	1261	44	4	1041	4	PCDHB16	5	140563173	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	417	140563173	40352087	3201	8309										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140563550	140563550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	11	17	1	2	rs56237941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140563550C>T	ENST00000361016.2	+	1	2571	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	472	Cadherin 5. {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)	p.S472S(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.627													c|||	59	0.0117812	0.0439	0.0014	5008	,	,		13762	0.0		0.0	False		,,,				2504	0.0				p.S472S		Atlas-SNP	.											PCDHB16,NS,carcinoma,0,1	PCDHB16	159	1	1	Substitution - coding silent(1)	prostate(1)	c.C1416T						PASS	.	T		152,4254	99.4+/-138.0	3,146,2054	73	70	71		1416	0.4	0.9	5	dbSNP_129	71	1,8591		0,1,4295	no	coding-synonymous	PCDHB16	NM_020957.1		3,147,6349	TT,TC,CC		0.0116,3.4498,1.1771		472/777	140563550	153,12845	2203	4296	6499	SO:0001819	synonymous_variant	57717	exon1			CGGCAGCGTCAGC	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1416C>T	5.37:g.140563550C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	114	70	0.614035	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			C|0.992;T|0.008	0.008	strong		0.627	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563550	C	T	140563550	2	4	22	1	0	0	0	0	0	0	0	1	11541	767	27	1		1	PCDHB16	5	140563550	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	377	140563550	40351710	3202	8310										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140573508	140573508	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs112214830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140573508C>G	ENST00000239446.4	+	1	1567	c.1383C>G	c.(1381-1383)cgC>cgG	p.R461R		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	461	Cadherin 5. {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)			TGTTCGTCCGCGAGAACAACA	0.632																																					p.R461R		Atlas-SNP	.											PCDHB10,NS,carcinoma,+2,2	PCDHB10	177	2	0			c.C1383G						scavenged	.						42	49	47					5																	140573508		2203	4290	6493	SO:0001819	synonymous_variant	56126	exon1			CGTCCGCGAGAAC	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.1383C>G	5.37:g.140573508C>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	174	56	0.321839	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			C|0.029;G|0.971	0.971	strong		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		G	140573508	C	G	140573508	2	3	22	1	0	0	0	0	0	0	0	1	11535	755	27	4		4	PCDHB10	5	140573508	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9958	140573508	40341752	3203	8311										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140573655	140573655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctccatcaacgcggacaaCggccacctgttcgccctcag	9	17	3	0	rs17844572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140573655C>T	ENST00000239446.4	+	1	1714	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	510	Cadherin 5. {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)			ACGCGGACAACGGCCACCTGT	0.692													C|||	79	0.0157748	0.0582	0.0029	5008	,	,		18416	0.0		0.0	False		,,,				2504	0.0				p.N510N		Atlas-SNP	.											.	PCDHB10	177	.	0			c.C1530T						PASS	.	C		182,4224	107.8+/-146.2	5,172,2026	102	119	113		1530	1.7	0.9	5	dbSNP_123	113	0,8594		0,0,4297	no	coding-synonymous	PCDHB10	NM_018930.3		5,172,6323	TT,TC,CC		0.0,4.1307,1.4		510/801	140573655	182,12818	2203	4297	6500	SO:0001819	synonymous_variant	56126	exon1			GGACAACGGCCAC	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.1530C>T	5.37:g.140573655C>T		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	395	107	0.270886	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			C|0.986;T|0.014	0.014	strong		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573655	C	T	140573655	2	4	22	1	0	0	0	0	0	0	0	1	11535	535	19	1		1	PCDHB10	5	140573655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147	140573655	40341605	3204	8312										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140573759	140573759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgcgctgagcagagaggCgctggtgcgcgtgctggtgc	18	13	0	2	rs17844584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140573759C>T	ENST00000239446.4	+	1	1818	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	545	Cadherin 5. {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)	p.A545V(1)		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)			AGCAGAGAGGCGCTGGTGCGC	0.706													C|||	27	0.00539137	0.0204	0.0	5008	,	,		16480	0.0		0.0	False		,,,				2504	0.0				p.A545V		Atlas-SNP	.											PCDHB10,colon,carcinoma,0,1	PCDHB10	177	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1634T						scavenged	.	C	VAL/ALA	66,4300		0,66,2117	34	48	43		1634	3.5	1	5	dbSNP_123	43	0,8560		0,0,4280	no	missense	PCDHB10	NM_018930.3	64	0,66,6397	TT,TC,CC		0.0,1.5117,0.5106	benign	545/801	140573759	66,12860	2183	4280	6463	SO:0001583	missense	56126	exon1			GAGAGGCGCTGGT	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.1634C>T	5.37:g.140573759C>T	ENSP00000239446:p.Ala545Val	Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	145	68	0.468966	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.508907	0.44660	0.015117	0.0	ENSG00000120324	ENST00000239446	T	0.01787	4.64	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.16266	0.395	0.09310	N	1	D	0.54047	0.964	P	0.48921	0.595	T	0.53136	-0.8481	9	0.14252	T	0.57	.	7.8479	0.29437	0.0:0.8331:0.0:0.1669	rs17844584	545	Q9UN67	PCDBA_HUMAN	V	545	ENSP00000239446:A545V	ENSP00000239446:A545V	A	+	2	0	PCDHB10	140553943	0.000000	0.05858	0.998000	0.56505	0.980000	0.70556	-0.423000	0.07034	1.994000	0.58287	0.549000	0.68633	GCG	C|0.993;T|0.007	0.007	strong		0.706	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573759	C	T	140573759	3	4	22	1	0	0	0	0	1	0	0	0	11535	768	27	1	1636	1	PCDHB10	5	140573759	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104	140573759	40341501	3205	8313										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140579358	140579358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaggaactatggagaaccAagggacacgcactcagcaga	12	9	1	2	rs3756323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140579358A>G	ENST00000354757.3	+	1	11	c.11A>G	c.(10-12)cAa>cGa	p.Q4R	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	4			Q -> R (in dbSNP:rs3756323).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGAACCAAGGGACACGC	0.502													G|||	764	0.152556	0.2579	0.1902	5008	,	,		21054	0.0407		0.1581	False		,,,				2504	0.093				p.Q4R		Atlas-SNP	.											.	PCDHB11	162	.	0			c.A11G						PASS	.	G	ARG/GLN	1043,3363	725.1+/-409.6	115,813,1275	79	74	76		11	0.2	0	5	dbSNP_107	76	1473,7127	749.9+/-407.4	137,1199,2964	yes	missense	PCDHB11	NM_018931.2	43	252,2012,4239	GG,GA,AA		17.1279,23.6723,19.3449	benign	4/798	140579358	2516,10490	2203	4300	6503	SO:0001583	missense	56125	exon1			AGAACCAAGGGAC	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.11A>G	5.37:g.140579358A>G	ENSP00000346802:p.Gln4Arg	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	70	44	0.628571	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	333	0.15247252747252749	122	0.24796747967479674	63	0.17403314917127072	26	0.045454545454545456	122	0.16094986807387862	G	2.426	-0.331889	0.05314	0.236723	0.171279	ENSG00000197479	ENST00000354757	T	0.46063	0.88	2.69	0.238	0.15480	.	.	.	.	.	T	0.00012	0.0000	N	0.01482	-0.84	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39375	-0.9617	8	0.09843	T	0.71	.	7.8071	0.29209	0.1035:0.3818:0.5147:0.0	rs3756323;rs52814876;rs58371514;rs3756323	4	Q9Y5F2	PCDBB_HUMAN	R	4	ENSP00000346802:Q4R	ENSP00000346802:Q4R	Q	+	2	0	PCDHB11	140559542	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.201000	0.09464	-0.041000	0.13558	-0.368000	0.07277	CAA	A|0.818;G|0.182	0.182	strong		0.502	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		G	140579358	A	G	140579358	3	3	22	1	0	0	0	0	1	0	0	0	11536	130	5	2	13	2	PCDHB11	5	140579358	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5599	140579358	40335902	3206	8314										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140580941	140580941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctttcgacttccgcgtgGgcgccacagaccgcggctcc	13	16	0	1	rs138686663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140580941G>A	ENST00000354757.3	+	1	1594	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G167S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G532S(2)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCGCGTGGGCGCCACAGA	0.677																																					p.G532S		Atlas-SNP	.											PCDHB11,NS,carcinoma,0,3	PCDHB11	162	3	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G1594A						PASS	.						51	67	62					5																	140580941		2202	4300	6502	SO:0001583	missense	56125	exon1			CGCGTGGGCGCCA	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1594G>A	5.37:g.140580941G>A	ENSP00000346802:p.Gly532Ser	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	496	79	0.159274	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	11.84	1.758724	0.31137	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01647	4.71;4.71	2.51	-5.02	0.02982	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	N	0.11845	0.185	0.09310	N	0.999999	B	0.26081	0.141	B	0.40375	0.327	T	0.50056	-0.8872	9	0.34782	T	0.22	.	8.9541	0.35807	0.3349:0.5322:0.1329:0.0	.	532	Q9Y5F2	PCDBB_HUMAN	S	167;532	ENSP00000440344:G167S;ENSP00000346802:G532S	ENSP00000346802:G532S	G	+	1	0	PCDHB11	140561125	0.000000	0.05858	0.010000	0.14722	0.109000	0.19521	-4.241000	0.00268	-1.731000	0.01360	0.298000	0.19748	GGC	G|0.970;A|0.030	0.030	strong		0.677	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580941	G	A	140580941	3	1	22	1	0	0	0	0	1	0	0	0	11536	1232	43	2	1596	2	PCDHB11	5	140580941	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1583	140580941	40334319	3207	8315										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140580958	140580958	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggcgccacagaccgcggCtccccggctttgagcagcga					rs74949746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140580958C>A	ENST00000354757.3	+	1	1611	c.1611C>A	c.(1609-1611)ggC>ggA	p.G537G	PCDHB11_ENST00000536699.1_Silent_p.G172G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGACCGCGGCTCCCCGGCTT	0.672													C|||	58	0.0115815	0.0431	0.0014	5008	,	,		16231	0.0		0.0	False		,,,				2504	0.0				p.G537G		Atlas-SNP	.											PCDHB11,right_upper_lobe,carcinoma,+2,2	PCDHB11	162	2	0			c.C1611A						PASS	.	C		154,4250	103.4+/-141.9	4,146,2052	38	51	47		1611	-2.2	0	5	dbSNP_131	47	0,8598		0,0,4299	no	coding-synonymous	PCDHB11	NM_018931.2		4,146,6351	AA,AC,CC		0.0,3.4968,1.1844		537/798	140580958	154,12848	2202	4299	6501	SO:0001819	synonymous_variant	56125	exon1			CCGCGGCTCCCCG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1611C>A	5.37:g.140580958C>A		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	433	213	0.491917	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																			C|0.991;A|0.009	0.009	strong		0.672	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580958	C	A	140580958	2	1	22	1	0	0	0	0	0	0	0	1	11536	784	28	4		4	PCDHB11	5	140580958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	140580958	40334302	3208	8316	155	2								
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140580967	140580967	+	Silent	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagaccgcggctccccggcTttgagcagcgaggcgctggt					rs149572646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140580967T>G	ENST00000354757.3	+	1	1620	c.1620T>G	c.(1618-1620)gcT>gcG	p.A540A	PCDHB11_ENST00000536699.1_Silent_p.A175A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCTTTGAGCAGCG	0.687																																					p.A540A		Atlas-SNP	.											.	PCDHB11	162	.	0			c.T1620G						PASS	.						32	44	40					5																	140580967		2202	4297	6499	SO:0001819	synonymous_variant	56125	exon1			CCCGGCTTTGAGC	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1620T>G	5.37:g.140580967T>G		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	392	48	0.122449	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																			T|0.998;G|0.002	0.002	strong		0.687	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		G	140580967	T	G	140580967	2	3	22	1	0	0	0	0	0	0	0	1	11536	1596	56	5		5	PCDHB11	5	140580967	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9	140580967	40334293	3209	8317	155	2								
PCDHB12	56124	hgsc.bcm.edu	37	chr5	140589334	140589334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataccttttcccatgcctcAgaagatattcgcaagacatt	5	11	1	3	rs149716951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140589334A>G	ENST00000239450.2	+	1	1044	c.855A>G	c.(853-855)tcA>tcG	p.S285S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCATGCCTCAGAAGATATTC	0.403													A|||	27	0.00539137	0.0204	0.0	5008	,	,		20813	0.0		0.0	False		,,,				2504	0.0				p.S285S		Atlas-SNP	.											.	PCDHB12	179	.	0			c.A855G						PASS	.	A		70,4336	63.5+/-100.7	1,68,2134	99	105	103		855	-4.1	1	5	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	PCDHB12	NM_018932.3		1,68,6434	GG,GA,AA		0.0,1.5887,0.5382		285/796	140589334	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	56124	exon1			TGCCTCAGAAGAT	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.855A>G	5.37:g.140589334A>G		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	121	64	0.528926	NM_018932	B4DDU1	Silent	SNP	ENST00000239450.2	37	CCDS4254.1																																																																																			A|0.994;G|0.006	0.006	strong		0.403	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		G	140589334	A	G	140589334	2	3	22	1	0	0	0	0	0	0	0	1	11537	175	7	3		3	PCDHB12	5	140589334	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8367	140589334	40325926	3210	8318										
PCDHB12	56124	hgsc.bcm.edu	37	chr5	140589738	140589738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagccgagtacaacatcaCcatcaccgtcaccgacttgg	8	15	3	1	rs2910327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140589738C>T	ENST00000239450.2	+	1	1448	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	PCDHB12_ENST00000541609.1_Missense_Mutation_p.T83I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		T -> I (in dbSNP:rs2910327).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATCACCATCACCGTC	0.522													C|||	601	0.120008	0.1036	0.0937	5008	,	,		18305	0.0933		0.1412	False		,,,				2504	0.1667				p.T420I		Atlas-SNP	.											.	PCDHB12	179	.	0			c.C1259T						PASS	.	C	ILE/THR	523,3883	239.6+/-250.7	33,457,1713	98	95	96		1259	3	1	5	dbSNP_101	96	1412,7188	273.4+/-290.6	134,1144,3022	yes	missense	PCDHB12	NM_018932.3	89	167,1601,4735	TT,TC,CC		16.4186,11.8702,14.8777	probably-damaging	420/796	140589738	1935,11071	2203	4300	6503	SO:0001583	missense	56124	exon1			ACATCACCATCAC	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1259C>T	5.37:g.140589738C>T	ENSP00000239450:p.Thr420Ile	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	193	92	0.476684	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	261	0.11950549450549451	50	0.1016260162601626	43	0.11878453038674033	53	0.09265734265734266	115	0.1517150395778364	C	14.49	2.550541	0.45383	0.118702	0.164186	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.03358	3.96;3.96	3.83	2.96	0.34315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00039	0.0001	M	0.87381	2.88	0.28256	P	0.9250636	B	0.25105	0.118	B	0.37346	0.247	T	0.01993	-1.1233	8	0.87932	D	0	.	10.8885	0.46981	0.0:0.9041:0.0:0.0959	rs2910327;rs17844600;rs52810894;rs57414218;rs2910327	420	Q9Y5F1	PCDBC_HUMAN	I	83;420;40	ENSP00000440199:T83I;ENSP00000239450:T420I	ENSP00000239450:T420I	T	+	2	0	PCDHB12	140569922	0.829000	0.29322	0.986000	0.45419	0.299000	0.27559	2.700000	0.47085	0.730000	0.32425	0.485000	0.47835	ACC	C|0.860;T|0.140	0.140	strong		0.522	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140589738	C	T	140589738	3	4	22	1	0	0	0	0	1	0	0	0	11537	507	18	2	1261	2	PCDHB12	5	140589738	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	404	140589738	40325522	3211	8319										
PCDHB12	56124	hgsc.bcm.edu	37	chr5	140590766	140590766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggctccaggtcaaatAagttcaaatttctgaaacca	8	9	3	1	rs2910006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140590766A>G	ENST00000239450.2	+	1	2476	c.2287A>G	c.(2287-2289)Aag>Gag	p.K763E	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.K426E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	763			K -> E (in dbSNP:rs2910006).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGTCAAATAAGTTCAAATT	0.502													G|||	1949	0.389177	0.7511	0.3386	5008	,	,		16246	0.1339		0.3211	False		,,,				2504	0.2689				p.K763E		Atlas-SNP	.											PCDHB12,tonsil,carcinoma,0,1	PCDHB12	179	1	0			c.A2287G						PASS	.	G	GLU/LYS	3093,1313	441.4+/-346.4	1082,929,192	74	75	75		2287	3.1	0	5	dbSNP_101	75	3042,5558	661.9+/-401.9	540,1962,1798	yes	missense	PCDHB12	NM_018932.3	56	1622,2891,1990	GG,GA,AA		35.3721,29.8003,47.1705	benign	763/796	140590766	6135,6871	2203	4300	6503	SO:0001583	missense	56124	exon1			TCAAATAAGTTCA	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2287A>G	5.37:g.140590766A>G	ENSP00000239450:p.Lys763Glu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	828	0.3791208791208791	375	0.7621951219512195	124	0.3425414364640884	78	0.13636363636363635	251	0.3311345646437995	G	3.390	-0.124597	0.06795	0.701997	0.353721	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.12039	2.72;2.72	3.13	3.13	0.36017	.	.	.	.	.	T	0.00012	0.0000	N	0.00000	-4.025	0.46678	P	8.479999999999599E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.41251	-0.9519	8	0.02654	T	1	.	9.4973	0.38995	0.1133:0.0:0.8867:0.0	rs2910006;rs3776095;rs17844605;rs60542532;rs2910006	763	Q9Y5F1	PCDBC_HUMAN	E	426;763;383	ENSP00000440199:K426E;ENSP00000239450:K763E	ENSP00000239450:K763E	K	+	1	0	PCDHB12	140570950	1.000000	0.71417	0.002000	0.10522	0.009000	0.06853	6.496000	0.73670	0.422000	0.26005	-0.684000	0.03749	AAG	A|0.559;G|0.441	0.441	strong		0.502	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		G	140590766	A	G	140590766	3	3	22	1	0	0	0	0	1	0	0	0	11537	363	13	2	2289	2	PCDHB12	5	140590766	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1028	140590766	40324494	3212	8320										
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595106	140595106	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagccccgccctgcacatcCgcagcgtcagcgctacagac	9	19	1	1	rs2910329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140595106C>G	ENST00000341948.4	+	1	1598	c.1411C>G	c.(1411-1413)Cgc>Ggc	p.R471G		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> G (in dbSNP:rs2910329).		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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACATCCGCAGCGTCAG	0.642																																					p.R471G		Atlas-SNP	.											.	PCDHB13	142	.	0			c.C1411G						PASS	.	G	GLY/ARG	2957,1447		987,983,232	103	114	110		1411	2.8	0.3	5	dbSNP_101	110	3007,5587		534,1939,1824	no	missense	PCDHB13	NM_018933.2	125	1521,2922,2056	GG,GC,CC		34.9895,32.8565,45.884	benign	471/799	140595106	5964,7034	2202	4297	6499	SO:0001583	missense	56123	exon1			CACATCCGCAGCG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1411C>G	5.37:g.140595106C>G	ENSP00000345491:p.Arg471Gly	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_018933	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	730	0.3342490842490842	324	0.6585365853658537	116	0.32044198895027626	68	0.11888111888111888	222	0.2928759894459103	N	0.012	-1.682679	0.00745	0.671435	0.349895	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00753	5.74	3.67	2.78	0.32641	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00006	-3.25	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18335	-1.0340	8	0.02654	T	1	.	8.0096	0.30344	0.0:0.1564:0.5207:0.3228	rs2910329;rs3733685;rs17844611;rs2910329	471	Q9Y5F0	PCDBD_HUMAN	G	471	ENSP00000345491:R471G	ENSP00000345491:R471G	R	+	1	0	PCDHB13	140575290	0.345000	0.24835	0.324000	0.25361	0.611000	0.37282	1.343000	0.33930	0.185000	0.20105	-0.702000	0.03669	CGC	C|0.532;G|0.468	0.468	strong		0.642	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		G	140595106	C	G	140595106	3	3	22	1	0	0	0	0	1	0	0	0	11538	652	23	4	1413	4	PCDHB13	5	140595106	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4340	140595106	40320154	3213	8321										
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595183	140595183	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgccgccccaggacccGcacctgcccctcacatccct	7	23	1	0	rs2910330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140595183G>T	ENST00000341948.4	+	1	1675	c.1488G>T	c.(1486-1488)ccG>ccT	p.P496P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	496	Cadherin 5. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGACCCGCACCTGCCCC	0.657													G|||	602	0.120208	0.1036	0.0937	5008	,	,		15894	0.0933		0.1421	False		,,,				2504	0.1667				p.P496P		Atlas-SNP	.											.	PCDHB13	142	.	0			c.G1488T						PASS	.	G		522,3884		34,454,1715	101	108	105		1488	0.3	0	5	dbSNP_101	105	1410,7190		133,1144,3023	no	coding-synonymous	PCDHB13	NM_018933.2		167,1598,4738	TT,TG,GG		16.3953,11.8475,14.8547		496/799	140595183	1932,11074	2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			GGACCCGCACCTG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1488G>T	5.37:g.140595183G>T		Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	298	145	0.486577	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			A|0.000;G|0.862;T|0.138	0.138	strong		0.657	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595183	G	T	140595183	2	4	22	1	0	0	0	0	0	0	0	1	11538	1074	38	4		4	PCDHB13	5	140595183	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77	140595183	40320077	3214	8322										
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595343	140595343	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaggcgctggtgcgcgtgGtggtgctggacgccaacgac	19	11	0	0	rs56309578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140595343G>C	ENST00000341948.4	+	1	1835	c.1648G>C	c.(1648-1650)Gtg>Ctg	p.V550L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	550	Cadherin 5. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGGTGGTGCTGGA	0.721													C|||	343	0.0684904	0.1377	0.0663	5008	,	,		16063	0.003		0.0795	False		,,,				2504	0.0327				p.V550L		Atlas-SNP	.											.	PCDHB13	142	.	0			c.G1648C						PASS	.	C	LEU/VAL	522,3882		26,470,1706	33	38	36		1648	-3.5	0	5	dbSNP_129	36	734,7862		41,652,3605	no	missense	PCDHB13	NM_018933.2	32	67,1122,5311	CC,CG,GG		8.5389,11.8529,9.6615	benign	550/799	140595343	1256,11744	2202	4298	6500	SO:0001583	missense	56123	exon1			CGCGTGGTGGTGC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1648G>C	5.37:g.140595343G>C	ENSP00000345491:p.Val550Leu	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	153	84	0.54902	NM_018933	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	129	0.059065934065934064	67	0.13617886178861788	18	0.049723756906077346	2	0.0034965034965034965	42	0.055408970976253295	-	0.028	-1.351816	0.01256	0.118529	0.085389	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01745	4.66	3.0	-3.54	0.04653	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41395	-0.9511	9	0.02654	T	1	.	4.891	0.13726	0.0975:0.2484:0.4784:0.1756	rs56309578	550	Q9Y5F0	PCDBD_HUMAN	L	550;550;496	ENSP00000345491:V550L	ENSP00000345491:V550L	V	+	1	0	PCDHB13	140575527	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-2.965000	0.00670	-1.078000	0.03117	-1.279000	0.01387	GTG	G|0.921;C|0.079	0.079	strong		0.721	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		C	140595343	G	C	140595343	3	2	22	1	0	0	0	0	1	0	0	0	11538	1261	44	4	1650	4	PCDHB13	5	140595343	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160	140595343	40319917	3215	8323										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140603248	140603248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctagggctgggggtggaGgagctgtcttcacgtgaagc	18	8	2	1	rs7713000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140603248G>A	ENST00000239449.4	+	1	171	c.171G>A	c.(169-171)gaG>gaA	p.E57E	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	57	Cadherin 1. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGGTGGAGGAGCTGTCTT	0.478													g|||	103	0.0205671	0.0734	0.0072	5008	,	,		17325	0.0		0.001	False		,,,				2504	0.0				p.E57E	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.G171A						PASS	.	G		278,4128		6,266,1931	90	93	92		171	1	0.6	5	dbSNP_116	92	0,8600		0,0,4300	no	coding-synonymous	PCDHB14	NM_018934.2		6,266,6231	AA,AG,GG		0.0,6.3096,2.1375		57/799	140603248	278,12728	2203	4300	6503	SO:0001819	synonymous_variant	56122	exon1			GGTGGAGGAGCTG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.171G>A	5.37:g.140603248G>A		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	205	106	0.517073	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			G|0.975;A|0.025	0.025	strong		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140603248	G	A	140603248	2	1	22	1	0	0	0	0	0	0	0	1	11539	991	35	2		2	PCDHB14	5	140603248	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7905	140603248	40312012	3216	8324										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140603794	140603794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggacatcaatgataatgcCcctgagtttcctcagagtct	8	10	3	3	rs59600730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140603794C>T	ENST00000239449.4	+	1	717	c.717C>T	c.(715-717)gcC>gcT	p.A239A	PCDHB14_ENST00000515856.2_Silent_p.A86A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	239	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATAATGCCCCTGAGTTTC	0.517													t|||	132	0.0263578	0.0946	0.0086	5008	,	,		16922	0.0		0.001	False		,,,				2504	0.0				p.A239A	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.C717T						PASS	.	T		304,4102		8,288,1907	70	72	71		717	-1.6	1	5	dbSNP_129	71	3,8597		0,3,4297	no	coding-synonymous	PCDHB14	NM_018934.2		8,291,6204	TT,TC,CC		0.0349,6.8997,2.3604		239/799	140603794	307,12699	2203	4300	6503	SO:0001819	synonymous_variant	56122	exon1			TAATGCCCCTGAG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.717C>T	5.37:g.140603794C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	74	25	0.337838	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			C|0.977;T|0.023	0.023	strong		0.517	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		T	140603794	C	T	140603794	2	4	22	1	0	0	0	0	0	0	0	1	11539	610	22	2		2	PCDHB14	5	140603794	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	546	140603794	40311466	3217	8325										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140604419	140604419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgacgtcaatgacaacGcccccaccttcacccaaacc	4	19	3	2	rs61731253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140604419G>A	ENST00000239449.4	+	1	1342	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A295T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	448	Cadherin 4. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCACCTT	0.582													g|||	103	0.0205671	0.0734	0.0072	5008	,	,		17391	0.0		0.001	False		,,,				2504	0.0				p.A448T	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.G1342A						PASS	.	G	THR/ALA	278,4128		6,266,1931	145	140	142		1342	3.5	1	5	dbSNP_129	142	0,8600		0,0,4300	no	missense	PCDHB14	NM_018934.2	58	6,266,6231	AA,AG,GG		0.0,6.3096,2.1375	benign	448/799	140604419	278,12728	2203	4300	6503	SO:0001583	missense	56122	exon1			GACAACGCCCCCA	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1342G>A	5.37:g.140604419G>A	ENSP00000239449:p.Ala448Thr	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	200	108	0.54	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	39	0.017857142857142856	37	0.07520325203252033	2	0.0055248618784530384	0	0.0	0	0.0	-	8.743	0.919419	0.17982	0.063096	0.0	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.03181	4.02;4.02	4.5	3.55	0.40652	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00300	0.0009	M	0.75777	2.31	0.30169	N	0.801422	P	0.49559	0.925	B	0.34652	0.187	T	0.21827	-1.0234	9	0.56958	D	0.05	.	9.2019	0.37263	0.0:0.2719:0.6013:0.1268	rs61731253	448	Q9Y5E9	PCDBE_HUMAN	T	295;448	ENSP00000444518:A295T;ENSP00000239449:A448T	ENSP00000239449:A448T	A	+	1	0	PCDHB14	140584603	0.003000	0.15002	1.000000	0.80357	0.089000	0.18198	-0.272000	0.08560	2.235000	0.73313	0.556000	0.70494	GCC	G|0.979;A|0.021	0.021	strong		0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140604419	G	A	140604419	3	1	22	1	0	0	0	0	1	0	0	0	11539	1087	38	1	1344	1	PCDHB14	5	140604419	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	625	140604419	40310841	3218	8326										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140604564	140604564	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgccgccccaggaccGgcacctgcccctcgcctcct	10	22	0	0	rs61997246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140604564G>C	ENST00000239449.4	+	1	1487	c.1487G>C	c.(1486-1488)cGg>cCg	p.R496P	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R343P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	496	Cadherin 5. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGGACCGGCACCTGCCC	0.637													c|||	418	0.0834665	0.2769	0.0548	5008	,	,		15681	0.0		0.0139	False		,,,				2504	0.0				p.R496P	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.G1487C						PASS	.	C	PRO/ARG	990,3416		110,770,1323	89	99	96		1487	-0.2	0.1	5	dbSNP_129	96	120,8480		0,120,4180	no	missense	PCDHB14	NM_018934.2	103	110,890,5503	CC,CG,GG		1.3953,22.4694,8.5345	benign	496/799	140604564	1110,11896	2203	4300	6503	SO:0001583	missense	56122	exon1			AGGACCGGCACCT	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1487G>C	5.37:g.140604564G>C	ENSP00000239449:p.Arg496Pro	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	275	135	0.490909	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	162	0.07417582417582418	133	0.2703252032520325	20	0.055248618784530384	0	0.0	9	0.011873350923482849	-	0.001	-3.069461	0.00036	0.224694	0.013953	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01745	4.66;4.66	4.15	-0.219	0.13135	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.16066	0.365	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.42649	-0.9439	8	0.02654	T	1	.	2.8274	0.05489	0.2732:0.2374:0.3928:0.0965	rs61997246	496	Q9Y5E9	PCDBE_HUMAN	P	343;496	ENSP00000444518:R343P;ENSP00000239449:R496P	ENSP00000239449:R496P	R	+	2	0	PCDHB14	140584748	0.000000	0.05858	0.073000	0.20177	0.022000	0.10575	0.082000	0.14847	0.031000	0.15407	-0.223000	0.12442	CGG	G|0.918;C|0.082	0.082	strong		0.637	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		C	140604564	G	C	140604564	3	2	22	1	0	0	0	0	1	0	0	0	11539	1116	39	4	1489	4	PCDHB14	5	140604564	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145	140604564	40310696	3219	8327										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140604641	140604641	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcaggtcgctggactacGaggccctacaggagttcgag	13	13	1	0	rs142548755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140604641G>C	ENST00000239449.4	+	1	1564	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E369Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	522	Cadherin 5. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTACA	0.687													g|||	27	0.00539137	0.0204	0.0	5008	,	,		16691	0.0		0.0	False		,,,				2504	0.0				p.E522Q	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.G1564C						PASS	.	G	GLN/GLU	69,4337		0,69,2134	86	91	90		1564	4.2	1	5	dbSNP_134	90	0,8600		0,0,4300	no	missense	PCDHB14	NM_018934.2	29	0,69,6434	CC,CG,GG		0.0,1.566,0.5305	probably-damaging	522/799	140604641	69,12937	2203	4300	6503	SO:0001583	missense	56122	exon1			GACTACGAGGCCC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1564G>C	5.37:g.140604641G>C	ENSP00000239449:p.Glu522Gln	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	281	137	0.487544	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	-	20.7	4.042145	0.75732	0.01566	0.0	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.72942	-0.7;-0.7	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.81917	0.4924	H	0.96048	3.76	0.45634	D	0.998568	D	0.89917	1.0	D	0.97110	1.0	D	0.89840	0.4002	9	0.87932	D	0	.	16.4819	0.84160	0.0:0.0:1.0:0.0	.	522	Q9Y5E9	PCDBE_HUMAN	Q	369;522	ENSP00000444518:E369Q;ENSP00000239449:E522Q	ENSP00000239449:E522Q	E	+	1	0	PCDHB14	140584825	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.687000	0.84139	2.048000	0.60808	0.556000	0.70494	GAG	G|0.994;C|0.006	0.006	strong		0.687	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		C	140604641	G	C	140604641	3	2	22	1	0	0	0	0	1	0	0	0	11539	1059	37	4	1566	4	PCDHB14	5	140604641	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77	140604641	40310619	3220	8328										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140604694	140604694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacagaccgcgggtccccGgcgttgagcagcgaggcgct	16	15	0	2	rs76971158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140604694G>A	ENST00000239449.4	+	1	1617	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	PCDHB14_ENST00000515856.2_Silent_p.P386P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	539	Cadherin 5. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGGTCCCCGGCGTTGAGCA	0.672													g|||	132	0.0263578	0.0946	0.0086	5008	,	,		16525	0.0		0.001	False		,,,				2504	0.0				p.P539P	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											PCDHB14,caecum,carcinoma,0,1	PCDHB14	132	1	0			c.G1617A						PASS	.	G		301,4105		7,287,1909	51	57	55		1617	-4.4	0.6	5	dbSNP_131	55	4,8592		0,4,4294	no	coding-synonymous	PCDHB14	NM_018934.2		7,291,6203	AA,AG,GG		0.0465,6.8316,2.3458		539/799	140604694	305,12697	2203	4298	6501	SO:0001819	synonymous_variant	56122	exon1			GTCCCCGGCGTTG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1617G>A	5.37:g.140604694G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	247	119	0.481781	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			G|0.978;A|0.022	0.022	strong		0.672	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140604694	G	A	140604694	2	1	22	1	0	0	0	0	0	0	0	1	11539	1103	39	1		1	PCDHB14	5	140604694	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53	140604694	40310566	3221	8329										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140604721	140604721	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcgaggcgctggtgcgCgtgctggtgctggacgccaa	18	11	0	0	rs2910003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140604721C>A	ENST00000239449.4	+	1	1644	c.1644C>A	c.(1642-1644)cgC>cgA	p.R548R	PCDHB14_ENST00000515856.2_Silent_p.R395R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	548	Cadherin 5. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.711													c|||	1818	0.363019	0.6543	0.3329	5008	,	,		16379	0.1359		0.3211	False		,,,				2504	0.2679				p.R548R	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											PCDHB14,NS,carcinoma,+2,1	PCDHB14	132	1	0			c.C1644A						PASS	.						35	39	37					5																	140604721		2202	4297	6499	SO:0001819	synonymous_variant	56122	exon1			GGTGCGCGTGCTG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1644C>A	5.37:g.140604721C>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	175	83	0.474286	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			C|0.642;A|0.358	0.358	strong		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140604721	C	A	140604721	2	1	22	1	0	0	0	0	0	0	0	1	11539	755	27	4		4	PCDHB14	5	140604721	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27	140604721	40310539	3222	8330										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140605078	140605078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctggtggacggcttctcCcagccctacctgccgctccc	9	20	1	0	rs2907322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140605078C>T	ENST00000239449.4	+	1	2001	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	PCDHB14_ENST00000515856.2_Silent_p.S514S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	667	Cadherin 6. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCTTCTCCCAGCCCTACC	0.701													c|||	900	0.179712	0.292	0.1412	5008	,	,		12341	0.0933		0.161	False		,,,				2504	0.1636				p.S667S	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.C2001T						PASS	.						35	41	39					5																	140605078		2117	4180	6297	SO:0001819	synonymous_variant	56122	exon1			CTTCTCCCAGCCC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2001C>T	5.37:g.140605078C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	54	29	0.537037	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			C|0.835;T|0.165	0.165	strong		0.701	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		T	140605078	C	T	140605078	2	4	22	1	0	0	0	0	0	0	0	1	11539	610	22	2		2	PCDHB14	5	140605078	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	357	140605078	40310182	3223	8331										
PCDHB14	56122	hgsc.bcm.edu	37	chr5	140605092	140605092	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcccagccctacctgcCgctccctgaggcggccccgg	10	21	1	1	rs76671799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140605092C>G	ENST00000239449.4	+	1	2015	c.2015C>G	c.(2014-2016)cCg>cGg	p.P672R	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P519R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	672					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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCCGCTCCCTGAG	0.692													c|||	132	0.0263578	0.0946	0.0086	5008	,	,		14125	0.0		0.001	False		,,,				2504	0.0				p.P672R	Ovarian(141;50 1831 27899 33809 37648)	Atlas-SNP	.											.	PCDHB14	132	.	0			c.C2015G						PASS	.	C	ARG/PRO	234,4046		6,222,1912	46	53	51		2015	0.6	0.5	5	dbSNP_131	51	3,8453		0,3,4225	no	missense	PCDHB14	NM_018934.2	103	6,225,6137	GG,GC,CC		0.0355,5.4673,1.8609	benign	672/799	140605092	237,12499	2140	4228	6368	SO:0001583	missense	56122	exon1			ACCTGCCGCTCCC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2015C>G	5.37:g.140605092C>G	ENSP00000239449:p.Pro672Arg	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	45	0.020604395604395604	42	0.08536585365853659	3	0.008287292817679558	0	0.0	0	0.0	-	12.23	1.876740	0.33162	0.054673	3.55E-4	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.51817	0.7;0.69	3.83	0.644	0.17776	.	.	.	.	.	T	0.02533	0.0077	M	0.82923	2.615	0.19945	N	0.999944	B	0.28378	0.209	B	0.30029	0.11	T	0.10177	-1.0641	9	0.39692	T	0.17	.	6.8594	0.24058	0.5742:0.2934:0.1324:0.0	.	672	Q9Y5E9	PCDBE_HUMAN	R	519;672	ENSP00000444518:P519R;ENSP00000239449:P672R	ENSP00000239449:P672R	P	+	2	0	PCDHB14	140585276	0.000000	0.05858	0.479000	0.27329	0.090000	0.18270	0.062000	0.14389	0.695000	0.31675	-0.251000	0.11542	CCG	C|0.978;G|0.022	0.022	strong		0.692	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		G	140605092	C	G	140605092	3	3	22	1	0	0	0	0	1	0	0	0	11539	652	23	4	2017	4	PCDHB14	5	140605092	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	140605092	40310168	3224	8332										
PCDHB15	56121	hgsc.bcm.edu	37	chr5	140626767	140626767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaccgcggcttcccggcgCtgagcagcgaggcgctggtg	17	14	0	2	rs3096081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140626767C>T	ENST00000231173.3	+	1	1621	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCCGGCGCTGAGCAGCGA	0.687													C|||	1081	0.215855	0.4213	0.1499	5008	,	,		15746	0.0992		0.1571	False		,,,				2504	0.1656				p.L541L		Atlas-SNP	.											PCDHB15,NS,carcinoma,-2,1	PCDHB15	138	1	0			c.C1621T						PASS	.	C		1704,2702	483.2+/-359.6	349,1006,848	42	53	49		1621	4.4	1	5	dbSNP_103	49	1523,7075	273.5+/-290.7	158,1207,2934	no	coding-synonymous	PCDHB15	NM_018935.2		507,2213,3782	TT,TC,CC		17.7134,38.6745,24.8154		541/788	140626767	3227,9777	2203	4299	6502	SO:0001819	synonymous_variant	56121	exon1			CCGGCGCTGAGCA	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1621C>T	5.37:g.140626767C>T		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	239	237	0.991632	NM_018935	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			C|0.770;T|0.230	0.230	strong		0.687	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140626767	C	T	140626767	2	4	22	1	0	0	0	0	0	0	0	1	11540	796	28	2		2	PCDHB15	5	140626767	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21675	140626767	40288493	3225	8333										
PCDHB15	56121	hgsc.bcm.edu	37	chr5	140626790	140626790	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcgaggcgctggtgcgAgtgctggtgctggacgccaa	18	10	0	0	rs3096082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140626790A>C	ENST00000231173.3	+	1	1644	c.1644A>C	c.(1642-1644)cgA>cgC	p.R548R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGAGTGCTGGTGC	0.711													a|||	1006	0.200879	0.3797	0.1441	5008	,	,		15407	0.0913		0.1571	False		,,,				2504	0.1575				p.R548R		Atlas-SNP	.											.	PCDHB15	138	.	0			c.A1644C						PASS	.						32	40	38					5																	140626790		2200	4296	6496	SO:0001819	synonymous_variant	56121	exon1			GGTGCGAGTGCTG	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1644A>C	5.37:g.140626790A>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	130	130	1	NM_018935	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			A|0.846;C|0.154	0.154	strong		0.711	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		C	140626790	A	C	140626790	2	2	22	1	0	0	0	0	0	0	0	1	11540	291	11	5		5	PCDHB15	5	140626790	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23	140626790	40288470	3226	8334										
PCDHB15	56121	hgsc.bcm.edu	37	chr5	140627184	140627184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagaggcggccccggccCaagcccaggccgactcgctt	12	19	0	1	rs79326925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140627184C>G	ENST00000231173.3	+	1	2038	c.2038C>G	c.(2038-2040)Caa>Gaa	p.Q680E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	680					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q680K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCGGCCCAAGCCCAGGC	0.672													C|||	103	0.0205671	0.0734	0.0072	5008	,	,		16390	0.0		0.001	False		,,,				2504	0.0				p.Q680E		Atlas-SNP	.											.	PCDHB15	138	.	1	Substitution - Missense(1)	lung(1)	c.C2038G						PASS	.	C	GLU/GLN	247,4147		5,237,1955	62	68	66		2038	0.1	0	5	dbSNP_131	66	0,8572		0,0,4286	no	missense	PCDHB15	NM_018935.2	29	5,237,6241	GG,GC,CC		0.0,5.6213,1.905	benign	680/788	140627184	247,12719	2197	4286	6483	SO:0001583	missense	56121	exon1			CCGGCCCAAGCCC	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2038C>G	5.37:g.140627184C>G	ENSP00000231173:p.Gln680Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	109	63	0.577982	NM_018935	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	39	0.017857142857142856	37	0.07520325203252033	2	0.0055248618784530384	0	0.0	0	0.0	C	8.308	0.821498	0.16678	0.056213	0.0	ENSG00000113248	ENST00000231173	T	0.46063	0.88	4.25	0.0585	0.14328	.	.	.	.	.	T	0.01592	0.0051	L	0.31120	0.905	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09185	-1.0686	9	0.10636	T	0.68	.	15.5586	0.76219	0.0:0.5083:0.4917:0.0	.	680	Q9Y5E8	PCDBF_HUMAN	E	680	ENSP00000231173:Q680E	ENSP00000231173:Q680E	Q	+	1	0	PCDHB15	140607368	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-0.150000	0.10189	-0.255000	0.09486	0.549000	0.68633	CAA	C|0.979;G|0.021	0.021	strong		0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		G	140627184	C	G	140627184	3	3	22	1	0	0	0	0	1	0	0	0	11540	595	21	4	2040	4	PCDHB15	5	140627184	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	394	140627184	40288076	3227	8335										
PCDHGA1	56114	hgsc.bcm.edu	37	chr5	140712210	140712210	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaccacggccagcccccGctctccgccactgtcacgct	9	21	2	0	rs62378403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140712210G>T	ENST00000517417.1	+	1	1959	c.1959G>T	c.(1957-1959)ccG>ccT	p.P653P	PCDHGA1_ENST00000378105.3_Silent_p.P653P	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCCCCCGCTCTCCGCCA	0.697													g|||	1021	0.203874	0.2474	0.2032	5008	,	,		14206	0.2401		0.1372	False		,,,				2504	0.1769				p.P653P		Atlas-SNP	.											PCDHGA1_ENST00000517417,NS,carcinoma,0,2	PCDHGA1	397	2	0			c.G1959T						PASS	.	T	,	312,4048		33,246,1901	31	41	37		1959,1959	-0.2	1	5	dbSNP_129	37	439,8145		44,351,3897	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	77,597,5798	TT,TG,GG		5.1142,7.156,5.8019	,	653/932,653/824	140712210	751,12193	2180	4292	6472	SO:0001819	synonymous_variant	56114	exon1			GCCCCCGCTCTCC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1959G>T	5.37:g.140712210G>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	101	57	0.564356	NM_018912	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																			G|0.826;T|0.174	0.174	strong		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712210	G	T	140712210	2	4	22	1	0	0	0	0	0	0	0	1	11550	1074	38	4		4	PCDHGA1	5	140712210	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85026	140712210	40203050	3228	8336										
PCDHGA1	56114	hgsc.bcm.edu	37	chr5	140712299	140712299	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctcgagccctccgccaAacccaacgattcggacctca	7	19	1	0	rs62378404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140712299A>T	ENST00000517417.1	+	1	2048	c.2048A>T	c.(2047-2049)aAa>aTa	p.K683I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.K683I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	683					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCCGCCAAACCCAACGAT	0.692																																					p.K683I		Atlas-SNP	.											.	PCDHGA1	397	.	0			c.A2048T						PASS	.						67	80	76					5																	140712299		2203	4296	6499	SO:0001583	missense	56114	exon1			CCGCCAAACCCAA	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2048A>T	5.37:g.140712299A>T	ENSP00000431083:p.Lys683Ile	Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	326	159	0.48773	NM_018912	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	113	0.051739926739926737	45	0.09146341463414634	18	0.049723756906077346	14	0.024475524475524476	36	0.047493403693931395	A	13.01	2.110756	0.37242	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51817	0.73;0.69	3.87	-0.312	0.12758	.	3.140790	0.01069	N	0.004795	T	0.01661	0.0053	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.002	T	0.15723	-1.0427	10	0.59425	D	0.04	.	4.888	0.13713	0.6559:0.1574:0.1867:0.0	rs62378404	683;683	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	683	ENSP00000431083:K683I;ENSP00000367345:K683I	ENSP00000367345:K683I	K	+	2	0	PCDHGA1	140692483	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.355000	0.34068	0.173000	0.19788	0.477000	0.44152	AAA	A|0.958;T|0.042	0.042	strong		0.692	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712299	A	T	140712299	3	4	22	1	0	0	0	0	1	0	0	0	11550	14	1	5	2050	5	PCDHGA1	5	140712299	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	89	140712299	40202961	3229	8337										
PCDHGA2	56113	hgsc.bcm.edu	37	chr5	140719294	140719294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtaccgcataagcattccGgagaatacgctcgtgggcac	12	11	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCATTCCGGAGAATACGC	0.552																																					p.P252P		Atlas-SNP	.											.	PCDHGA2	205	.	0			c.G756A						PASS	.						74	77	76					5																	140719294		2203	4300	6503	SO:0001819	synonymous_variant	56113	exon1			CATTCCGGAGAAT	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.756G>A	5.37:g.140719294G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	48	26	0.541667	NM_018915	Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																			.	.	none		0.552	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140719294	G	A	140719294	2	1	22	1	0	0	0	0	0	0	0	1	11554	1103	39	1		1	PCDHGA2	5	140719294	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6995	140719294	40195966	3230	8338										
PCDHGA3	56112	hgsc.bcm.edu	37	chr5	140725828	140725828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctcgcactttgtgggcgCggacggggttcgggctttcc	17	12	0	0	rs7736541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140725828C>T	ENST00000253812.6	+	1	2228	c.2228C>T	c.(2227-2229)gCg>gTg	p.A743V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	743			A -> V (in dbSNP:rs7736541).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGGGCGCGGACGGGGTT	0.667													.|||	2709	0.540935	0.8495	0.6297	5008	,	,		13856	0.3264		0.4274	False		,,,				2504	0.3988				p.A743V		Atlas-SNP	.											.	PCDHGA3	246	.	0			c.C2228T						PASS	.	T	,,VAL/ALA,VAL/ALA	3497,909		1397,703,103	49	60	56		,,2228,2228	4.1	1	5	dbSNP_116	56	3761,4839		808,2145,1347	no	intron,intron,missense,missense	PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_032011.1	,,64,64	2205,2848,1450	TT,TC,CC		43.7326,20.631,44.195	,,,	,,743/933,743/830	140725828	7258,5748	2203	4300	6503	SO:0001583	missense	56112	exon1			TGGGCGCGGACGG	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2228C>T	5.37:g.140725828C>T	ENSP00000253812:p.Ala743Val	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	206	202	0.980583	NM_032011	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	1148	0.5256410256410257	394	0.8008130081300813	220	0.6077348066298343	193	0.3374125874125874	341	0.449868073878628	.	4.381	0.070226	0.08436	0.79369	0.437326	ENSG00000254245	ENST00000253812	T	0.41400	1.0	5.33	4.14	0.48551	.	0.467918	0.13384	N	0.391917	T	0.00012	0.0000	N	0.00006	-3.215	0.48762	P	2.9599999999996296E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42498	-0.9448	9	0.02654	T	1	.	5.5632	0.17157	0.2648:0.0722:0.0:0.663	rs7736541;rs59073584	743;743	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	743	ENSP00000253812:A743V	ENSP00000253812:A743V	A	+	2	0	PCDHGA3	140706012	0.003000	0.15002	0.983000	0.44433	0.605000	0.37080	0.472000	0.22116	0.399000	0.25367	-0.360000	0.07572	GCG	C|0.492;T|0.508	0.508	strong		0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725828	C	T	140725828	3	4	22	1	0	0	0	0	1	0	0	0	11555	768	27	1	2230	1	PCDHGA3	5	140725828	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6534	140725828	40189432	3231	8339										
PCDHGB1	56104	hgsc.bcm.edu	37	chr5	140731159	140731159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctccgacatcaacgacaaTgcacctgttttccatcaggc	6	14	3	0	rs78745319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140731159T>C	ENST00000523390.1	+	1	1332	c.1332T>C	c.(1330-1332)aaT>aaC	p.N444N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAACGACAATGCACCTGTTT	0.552													.|||	258	0.0515176	0.1664	0.013	5008	,	,		19775	0.0		0.0258	False		,,,				2504	0.0031				p.N444N		Atlas-SNP	.											.	PCDHGB1	198	.	0			c.T1332C						PASS	.	T	,,,,	559,3789		39,481,1654	86	98	94		,,,1332,1332	-3.5	0.1	5	dbSNP_132	94	145,8401		1,143,4129	no	intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB1,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018922.2,NM_032095.1	,,,,	40,624,5783	CC,CT,TT		1.6967,12.8565,5.4599	,,,,	,,,444/928,444/811	140731159	704,12190	2174	4273	6447	SO:0001819	synonymous_variant	56104	exon1			CGACAATGCACCT	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1332T>C	5.37:g.140731159T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	144	70	0.486111	NM_018922	Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	CCDS54923.1																																																																																			T|0.959;C|0.041	0.041	strong		0.552	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		C	140731159	T	C	140731159	2	2	22	1	0	0	0	0	0	0	0	1	11562	1461	51	2		2	PCDHGB1	5	140731159	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5331	140731159	40184101	3232	8340										
PCDHGA4	56111	hgsc.bcm.edu	37	chr5	140736328	140736328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatatgctctttgctccttcGactatgagcagtttagagac	8	9	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140736328G>A	ENST00000571252.1	+	1	1561	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCCTTCGACTATGAGCA	0.527																																					p.D521N		Atlas-SNP	.											.	PCDHGA4	150	.	0			c.G1561A						PASS	.						131	140	137					5																	140736328		2131	4270	6401	SO:0001583	missense	56111	exon1			TCCTTCGACTATG	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1561G>A	5.37:g.140736328G>A	ENSP00000458570:p.Asp521Asn	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	142	73	0.514085	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			.	.	none		0.527	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		A	140736328	G	A	140736328	3	1	22	1	0	0	0	0	1	0	0	0	11556	1058	37	1	1563	1	PCDHGA4	5	140736328	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5169	140736328	40178932	3233	8341										
PCDHGA4	56111	hgsc.bcm.edu	37	chr5	140736814	140736814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcctcaagccttcagcaGacccagacgactcgggcctc	10	17	2	2	rs11575951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140736814G>C	ENST00000571252.1	+	1	2047	c.2047G>C	c.(2047-2049)Gac>Cac	p.D683H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	683			D -> H (in dbSNP:rs11575951).		homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCAGCAGACCCAGACGA	0.622													.|||	254	0.0507188	0.1634	0.013	5008	,	,		19767	0.0		0.0258	False		,,,				2504	0.0031				p.D683H		Atlas-SNP	.											.	PCDHGA4	150	.	0			c.G2047C						PASS	.	G	,,,HIS/ASP,,HIS/ASP	565,3811		40,485,1663	35	40	38		,,,2047,,2047	-4.2	0	5	dbSNP_120	38	150,8438		1,148,4145	yes	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,81,,81	41,633,5808	CC,CG,GG		1.7466,12.9113,5.5153	,,,,,	,,,683/932,,683/821	140736814	715,12249	2188	4294	6482	SO:0001583	missense	56111	exon1			TCAGCAGACCCAG	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2047G>C	5.37:g.140736814G>C	ENSP00000458570:p.Asp683His	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	160	80	0.5	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			G|0.957;C|0.043	0.043	strong		0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		C	140736814	G	C	140736814	3	2	22	1	0	0	0	0	1	0	0	0	11556	942	33	4	2049	4	PCDHGA4	5	140736814	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	486	140736814	40178446	3234	8342										
PCDHGB2	56103	hgsc.bcm.edu	37	chr5	140739779	140739779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctgttgtctttgttccCcggggctctcccagtccaga	9	15	2	1	rs17097231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140739779C>G	ENST00000522605.1	+	1	77	c.77C>G	c.(76-78)cCc>cGc	p.P26R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	26			P -> R (in dbSNP:rs17097231).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTGTTCCCCGGGGCTCTC	0.592											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	653	0.130391	0.1573	0.1671	5008	,	,		14680	0.119		0.0706	False		,,,				2504	0.1411				p.P26R		Atlas-SNP	.											.	PCDHGB2	196	.	0			c.C77G						PASS	.	C	,,,,,ARG/PRO,ARG/PRO	565,3303		41,483,1410	37	43	41		,,,,,77,77	2.5	0.3	5	dbSNP_123	41	742,7522		38,666,3428	yes	intron,intron,intron,intron,intron,missense,missense	PCDHGB2,PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_018923.2,NM_032096.1	,,,,,103,103	79,1149,4838	GG,GC,CC		8.9787,14.607,10.7732	,,,,,,	,,,,,26/932,26/812	140739779	1307,10825	1934	4132	6066	SO:0001583	missense	56103	exon1			TGTTCCCCGGGGC	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.77C>G	5.37:g.140739779C>G	ENSP00000429018:p.Pro26Arg	Somatic	164	0	0	1658	WXS	Illumina HiSeq	Phase_I	191	75	0.39267	NM_018923	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	254	0.1163003663003663	69	0.1402439024390244	55	0.15193370165745856	70	0.12237762237762238	60	0.079155672823219	.	0.087	-1.173915	0.01646	0.14607	0.089787	ENSG00000253910	ENST00000522605	T	0.49720	0.77	5.3	2.45	0.29901	Cadherin-like (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12293	-1.0553	8	0.24483	T	0.36	.	8.4831	0.33054	0.1542:0.1344:0.7114:0.0	rs17097231;rs52831211;rs58908268;rs17097231	26;26	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	R	26	ENSP00000429018:P26R	ENSP00000429018:P26R	P	+	2	0	PCDHGB2	140719963	0.001000	0.12720	0.286000	0.24833	0.249000	0.25844	0.942000	0.29017	0.694000	0.31654	-0.344000	0.07964	CCC	C|0.880;G|0.120	0.120	strong		0.592	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		G	140739779	C	G	140739779	3	3	22	1	0	0	0	0	1	0	0	0	11563	623	22	4	79	4	PCDHGB2	5	140739779	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2965	140739779	40175481	3235	8343										
PCDHGA5	56110	hgsc.bcm.edu	37	chr5	140745333	140745333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgtgacagcccatgaccCcgacagcggcgacaacgctc	10	17	1	2	rs6882138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140745333C>T	ENST00000518069.1	+	1	1436	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATGACCCCGACAGCGGC	0.537													.|||	255	0.0509185	0.1641	0.013	5008	,	,		17824	0.0		0.0258	False		,,,				2504	0.0031				p.P479L		Atlas-SNP	.											.	PCDHGA5	215	.	0			c.C1436T						PASS	.	C	,,,,LEU/PRO,,,LEU/PRO	502,3502		36,430,1536	130	142	138		,,,,1436,,,1436	4.3	0.8	5	dbSNP_116	138	141,8241		1,139,4051	yes	intron,intron,intron,intron,missense,intron,intron,missense	PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_032054.1	,,,,98,,,98	37,569,5587	TT,TC,CC		1.6822,12.5375,5.1913	,,,,,,,	,,,,479/932,,,479/814	140745333	643,11743	2002	4191	6193	SO:0001583	missense	56110	exon1			ATGACCCCGACAG	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1436C>T	5.37:g.140745333C>T	ENSP00000429834:p.Pro479Leu	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	100	0.045787545787545784	73	0.1483739837398374	6	0.016574585635359115	0	0.0	21	0.027704485488126648	.	5.692	0.312222	0.10789	0.125375	0.016822	ENSG00000253485	ENST00000518069	T	0.01505	4.82	5.18	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	L	0.37750	1.13	0.09310	N	0.999999	B;B	0.20988	0.04;0.05	B;B	0.26310	0.041;0.068	T	0.50355	-0.8838	9	0.56958	D	0.05	.	12.7075	0.57070	0.2994:0.7006:0.0:0.0	rs6882138;rs6882138	479;479	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	L	479	ENSP00000429834:P479L	ENSP00000429834:P479L	P	+	2	0	PCDHGA5	140725517	0.000000	0.05858	0.830000	0.32933	0.029000	0.11900	1.073000	0.30691	1.267000	0.44247	0.563000	0.77884	CCC	C|0.944;T|0.056	0.056	strong		0.537	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		T	140745333	C	T	140745333	3	4	22	1	0	0	0	0	1	0	0	0	11557	623	22	2	1438	2	PCDHGA5	5	140745333	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5554	140745333	40169927	3236	8344										
PCDHGB3	56102	hgsc.bcm.edu	37	chr5	140751128	140751128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatgccaactaaaaggaaaCttcccctttaaaatcgttca	4	11	1	0	rs2240697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140751128C>G	ENST00000576222.1	+	1	1298	c.1167C>G	c.(1165-1167)aaC>aaG	p.N389K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> K (in dbSNP:rs2240697).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAGGAAACTTCCCCTTTA	0.443													.|||	2801	0.559305	0.8994	0.6326	5008	,	,		21441	0.3274		0.4264	False		,,,				2504	0.4233				p.N389K		Atlas-SNP	.											.	PCDHGB3	168	.	0			c.C1167G						PASS	.	G	,,,,,,,LYS/ASN,LYS/ASN	3221,629		1358,505,62	53	54	54		,,,,,,,1167,1167	-9.9	0	5	dbSNP_98	54	3580,4674		759,2062,1306	yes	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,94,94	2117,2567,1368	GG,GC,CC		43.3729,16.3377,43.812	,,,,,,,,	,,,,,,,389/930,389/815	140751128	6801,5303	1925	4127	6052	SO:0001583	missense	56102	exon1			AGGAAACTTCCCC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1167C>G	5.37:g.140751128C>G	ENSP00000461862:p.Asn389Lys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																			C|0.477;G|0.523	0.523	strong		0.443	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		G	140751128	C	G	140751128	3	3	22	1	0	0	0	0	1	0	0	0	11564	564	20	4	1169	4	PCDHGB3	5	140751128	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5795	140751128	40164132	3237	8345										
PCDHGA7	56108	hgsc.bcm.edu	37	chr5	140763029	140763029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcaaagtggagacgatgAaactaagtacccggaactgg	13	7	0	2	rs2072315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140763029A>G	ENST00000518325.1	+	1	563	c.563A>G	c.(562-564)gAa>gGa	p.E188G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> G (in dbSNP:rs2072315).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGATGAAACTAAGTAC	0.627													.|||	2720	0.543131	0.8495	0.6254	5008	,	,		17317	0.3264		0.4225	False		,,,				2504	0.4182				p.E188G		Atlas-SNP	.											.	PCDHGA7	130	.	0			c.A563G						PASS	.	G	,,,,,,GLY/GLU,,,,GLY/GLU	3433,813		1403,627,93	23	28	26		,,,,,,563,,,,563	4.2	0.9	5	dbSNP_96	26	3661,4845		784,2093,1376	yes	intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032087.1	,,,,,,98,,,,98	2187,2720,1469	GG,GA,AA		43.0402,19.1474,44.3695	,,,,,,,,,,	,,,,,,188/933,,,,188/818	140763029	7094,5658	2123	4253	6376	SO:0001583	missense	56108	exon1			ACGATGAAACTAA	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.563A>G	5.37:g.140763029A>G	ENSP00000430024:p.Glu188Gly	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	177	176	0.99435	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	1144	0.5238095238095238	399	0.8109756097560976	218	0.6022099447513812	189	0.3304195804195804	338	0.44591029023746703	.	0.867	-0.733271	0.03135	0.808526	0.430402	ENSG00000253537	ENST00000518325	T	0.19532	2.14	5.11	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.27	0.37323	P	0.09037799999999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39375	-0.9617	8	0.02654	T	1	.	12.4703	0.55783	0.1437:0.0:0.8563:0.0	rs2072315;rs17603026;rs52792598;rs57573292;rs2072315	188;188	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	G	188	ENSP00000430024:E188G	ENSP00000430024:E188G	E	+	2	0	PCDHGA7	140743213	0.916000	0.31088	0.908000	0.35775	0.368000	0.29767	1.416000	0.34759	1.290000	0.44636	-0.119000	0.15052	GAA	A|0.473;G|0.527	0.527	strong		0.627	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		G	140763029	A	G	140763029	3	3	22	1	0	0	0	0	1	0	0	0	11559	246	9	2	565	2	PCDHGA7	5	140763029	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11901	140763029	40152231	3238	8346										
PCDHGA8	9708	hgsc.bcm.edu	37	chr5	140773388	140773388	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaccaaattgctcatttcGgtggaagatgtaaatgacaa	10	6	1	2	rs370400807|rs2240700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140773388G>T	ENST00000398604.2	+	1	1008	c.1008G>T	c.(1006-1008)tcG>tcT	p.S336S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	336	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCATTTCGGTGGAAGATG	0.398													.|||	1012	0.202077	0.3169	0.1902	5008	,	,		18441	0.1548		0.1014	False		,,,				2504	0.2076				p.S336S		Atlas-SNP	.											PCDHGA8,caecum,carcinoma,+1,3	PCDHGA8	146	3	0			c.G1008T						PASS	.	G	,,,,,,,,,,,,	1171,2545		190,791,877	146	149	148		,1008,,,,,,,,,,,1008	-10.6	0.1	5	dbSNP_98	148	1005,7203		63,879,3162	yes	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_014004.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032088.1	,,,,,,,,,,,,	253,1670,4039	TT,TG,GG		12.2442,31.5124,18.2489	,,,,,,,,,,,,	,336/821,,,,,,,,,,,336/933	140773388	2176,9748	1858	4104	5962	SO:0001819	synonymous_variant	9708	exon1			CATTTCGGTGGAA	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1008G>T	5.37:g.140773388G>T		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	246	95	0.386179	NM_014004	A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																			G|0.805;T|0.195	0.195	strong		0.398	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		T	140773388	G	T	140773388	2	4	22	1	0	0	0	0	0	0	0	1	11560	1103	39	4		4	PCDHGA8	5	140773388	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10359	140773388	40141872	3239	8347										
PCDHGB5	56102	hgsc.bcm.edu	37	chr5	140778256	140778256	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taattaaggagaaacaggatGgtagtaaatacccggaactg	11	5	0	1	rs6867460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140778256G>A	ENST00000576222.1	+	1	2546				PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATGGTAGTAAATA	0.433													.|||	1016	0.202875	0.32	0.1902	5008	,	,		18939	0.1548		0.1024	False		,,,				2504	0.2065				p.G188S		Atlas-SNP	.											.	.	.	.	0			c.G562A						PASS	.	G	,,,,,,,,,,,SER/GLY,,SER/GLY	1172,2540		197,778,881	69	72	71		,,,,,,,,,,,562,,562	4.8	0.8	5	dbSNP_116	71	1005,7179		65,875,3152	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032099.1	,,,,,,,,,,,56,,56	262,1653,4033	AA,AG,GG		12.2801,31.5733,18.3003	,,,,,,,,,,,,,	,,,,,,,,,,,188/924,,188/819	140778256	2177,9719	1856	4092	5948	SO:0001627	intron_variant	56101	exon1			CAGGATGGTAGTA	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25880G>A	5.37:g.140778256G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	111	50	0.45045	NM_018925	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																			G|0.804;A|0.196	0.196	strong		0.433	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140778256	G	A	140778256	1	1	22	0	1	0	0	0	0	0	0	0	11566	1348	47	2		2	PCDHGB5	5	140778256	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4868	140778256	40137004	3240	8348										
PCDHGA9	56107	hgsc.bcm.edu	37	chr5	140783596	140783596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttagcccagtgagagaagaCgcacctcagggaacagtaat	11	9	1	3	rs1363448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140783596C>T	ENST00000573521.1	+	1	1077	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	359	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAGAAGACGCACCTCAGG	0.428													.|||	2713	0.541733	0.8427	0.6182	5008	,	,		18694	0.3274		0.4235	False		,,,				2504	0.4233				p.D359D		Atlas-SNP	.											.	PCDHGA9	110	.	0			c.C1077T						PASS	.	T	,,,,,,,,,,,,,,	3199,771		1305,589,91	76	78	77		,,,,,,,,1077,,,,,,1077	-1.5	0.5	5	dbSNP_88	77	3605,4723		774,2057,1333	no	intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,,,,,,,	2079,2646,1424	TT,TC,CC		43.2877,19.4207,44.6739	,,,,,,,,,,,,,,	,,,,,,,,359/933,,,,,,359/829	140783596	6804,5494	1985	4164	6149	SO:0001819	synonymous_variant	56107	exon1			AGAAGACGCACCT	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1077C>T	5.37:g.140783596C>T		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	197	197	1	NM_032089	A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			C|0.540;T|0.460	0.460	strong		0.428	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		T	140783596	C	T	140783596	2	4	22	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHGA9	5	140783596	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5340	140783596	40131664	3241	8349										
PCDHGA9	56107	hgsc.bcm.edu	37	chr5	140784427	140784427	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccctgctagatagagaTgcgctcaaacagagccttgt	12	11	1	3	rs3749769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140784427T>C	ENST00000573521.1	+	1	1908	c.1908T>C	c.(1906-1908)gaT>gaC	p.D636D	PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATAGAGATGCGCTCAAAC	0.612													.|||	644	0.128594	0.177	0.1527	5008	,	,		20005	0.1181		0.0586	False		,,,				2504	0.1288				p.D636D		Atlas-SNP	.											.	PCDHGA9	110	.	0			c.T1908C						PASS	.	T	,,,,,,,,,,,,,,	784,3586		74,636,1475	40	47	45		,,,,,,,,1908,,,,,,1908	-10.6	0	5	dbSNP_107	45	644,7946		26,592,3677	no	intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,,,,,,,	100,1228,5152	CC,CT,TT		7.4971,17.9405,11.0185	,,,,,,,,,,,,,,	,,,,,,,,636/933,,,,,,636/829	140784427	1428,11532	2185	4295	6480	SO:0001819	synonymous_variant	56107	exon1			TAGAGATGCGCTC	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1908T>C	5.37:g.140784427T>C		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	238	110	0.462185	NM_032089	A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			T|0.875;C|0.125	0.125	strong		0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		C	140784427	T	C	140784427	2	2	22	1	0	0	0	0	0	0	0	1	11561	1461	51	2		2	PCDHGA9	5	140784427	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	831	140784427	40130833	3242	8350										
PCDHGB6	56100	hgsc.bcm.edu	37	chr5	140788264	140788264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcctgatataaacataaaCtcaattaaagattataagat	4	5	1	3	rs58047392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140788264C>T	ENST00000520790.1	+	1	495	c.495C>T	c.(493-495)aaC>aaT	p.N165N	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAACATAAACTCAATTAAAG	0.343													.|||	995	0.198682	0.3064	0.1902	5008	,	,		18324	0.1528		0.1014	False		,,,				2504	0.2065				p.N165N		Atlas-SNP	.											.	PCDHGB6	120	.	0			c.C495T						PASS	.	C	,,,,,,,,,,,,,,,	1141,2505		187,767,869	30	30	30		,,,,,,,,,,,,,495,,495	3.2	0.9	5	dbSNP_129	30	1000,7176		63,874,3151	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032100.1	,,,,,,,,,,,,,,,	250,1641,4020	TT,TC,CC		12.2309,31.2946,18.1103	,,,,,,,,,,,,,,,	,,,,,,,,,,,,,165/931,,165/821	140788264	2141,9681	1823	4088	5911	SO:0001819	synonymous_variant	56100	exon1			CATAAACTCAATT	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.495C>T	5.37:g.140788264C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_032100	Q9Y5C5	Silent	SNP	ENST00000520790.1	37	CCDS54929.1																																																																																			C|0.824;T|0.176	0.176	strong		0.343	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		T	140788264	C	T	140788264	2	4	22	1	0	0	0	0	0	0	0	1	11567	564	20	2		2	PCDHGB6	5	140788264	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3837	140788264	40126996	3243	8351										
PCDHGB6	56100	hgsc.bcm.edu	37	chr5	140789933	140789933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgacgctctctcagccctGctacttgggactgcttccat	9	15	2	0	rs3749767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140789933G>A	ENST00000520790.1	+	1	2164	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	722			A -> T (in dbSNP:rs3749767).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGCCCTGCTACTTGGGA	0.542													.|||	1536	0.306709	0.5265	0.2594	5008	,	,		20334	0.1935		0.1918	False		,,,				2504	0.2781				p.A722T		Atlas-SNP	.											.	PCDHGB6	120	.	0			c.G2164A						PASS	.	A	,,,,,,,,,,,,,THR/ALA,,THR/ALA	1995,2125		483,1029,548	141	147	145		,,,,,,,,,,,,,2164,,2164	-10.2	0	5	dbSNP_107	145	1821,6585		192,1437,2574	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032100.1	,,,,,,,,,,,,,58,,58	675,2466,3122	AA,AG,GG		21.6631,48.4223,30.4646	,,,,,,,,,,,,,,,	,,,,,,,,,,,,,722/931,,722/821	140789933	3816,8710	2060	4203	6263	SO:0001583	missense	56100	exon1			AGCCCTGCTACTT	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2164G>A	5.37:g.140789933G>A	ENSP00000428603:p.Ala722Thr	Somatic	268	1	0.00373134		WXS	Illumina HiSeq	Phase_I	345	157	0.455072	NM_032100	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	620	0.2838827838827839	250	0.508130081300813	94	0.2596685082872928	117	0.20454545454545456	159	0.20976253298153033	a	5.515	0.279981	0.10458	0.484223	0.216631	ENSG00000253305	ENST00000520790	T	0.14391	2.51	5.11	-10.2	0.00374	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.12837	0.003;0.008	T	0.37957	-0.9683	8	0.30854	T	0.27	.	14.1643	0.65466	0.1425:0.0:0.6368:0.2208	rs3749767;rs52817710;rs61103125;rs3749767	722;722	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	T	722	ENSP00000428603:A722T	ENSP00000428603:A722T	A	+	1	0	PCDHGB6	140770117	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.063000	0.01388	-3.157000	0.00229	-2.917000	0.00090	GCT	G|0.702;A|0.298	0.298	strong		0.542	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		A	140789933	G	A	140789933	3	1	22	1	0	0	0	0	1	0	0	0	11567	1319	46	2	2166	2	PCDHGB6	5	140789933	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1669	140789933	40125327	3244	8352										
PCDHGA10	56106	hgsc.bcm.edu	37	chr5	140793007	140793007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgcgcagcggcagcttgAtcaccgcgggcaggatagac	14	14	1	2	rs4912751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140793007A>G	ENST00000398610.2	+	1	265	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> V (in dbSNP:rs4912751).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAGCTTGATCACCGCGGG	0.617													N|||	2785	0.55611	0.8941	0.6239	5008	,	,		14913	0.3254		0.4245	False		,,,				2504	0.4243				p.I89V		Atlas-SNP	.											.	PCDHGA10	114	.	0			c.A265G						PASS	.	G	,,VAL/ILE,,,,,,,,,,,,,,VAL/ILE	3572,716		1501,570,73	58	74	69		,,265,,,,,,,,,,,,,,265	2.8	1	5	dbSNP_111	69	3663,4883		792,2079,1402	no	intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032090.1	,,29,,,,,,,,,,,,,,29	2293,2649,1475	GG,GA,AA		42.8622,16.6978,43.6263	,,,,,,,,,,,,,,,,	,,89/937,,,,,,,,,,,,,,89/851	140793007	7235,5599	2144	4273	6417	SO:0001583	missense	56106	exon1			AGCTTGATCACCG		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.265A>G	5.37:g.140793007A>G	ENSP00000381611:p.Ile89Val	Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	171	170	0.994152	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	1169	0.5352564102564102	424	0.8617886178861789	217	0.5994475138121547	189	0.3304195804195804	339	0.4472295514511873	g	0.258	-1.001608	0.02128	0.833022	0.428622	ENSG00000253846	ENST00000398610	T	0.25749	1.78	5.89	2.76	0.32466	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00960	-1.095	0.49798	P	1.7800000000001148E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	8	0.02654	T	1	.	10.6926	0.45879	0.3043:0.0:0.6957:0.0	rs4912751;rs56999226;rs4912751	89;89	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	89	ENSP00000381611:I89V	ENSP00000381611:I89V	I	+	1	0	PCDHGA10	140773191	0.000000	0.05858	1.000000	0.80357	0.750000	0.42670	-2.080000	0.01368	0.352000	0.24053	-0.226000	0.12346	ATC	A|0.483;G|0.517	0.517	strong		0.617	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		G	140793007	A	G	140793007	3	3	22	1	0	0	0	0	1	0	0	0	11551	333	12	2	267	2	PCDHGA10	5	140793007	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3074	140793007	40122253	3245	8353										
PCDHGB7	56099	hgsc.bcm.edu	37	chr5	140797630	140797630	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggctcgcgagctgcgagtGagcgcggagaagctgcactt	16	11	0	2	rs2015825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140797630G>T	ENST00000398594.2	+	1	204	c.204G>T	c.(202-204)gtG>gtT	p.V68V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCGAGTGAGCGCGGAGA	0.572													t|||	2709	0.540935	0.8419	0.6182	5008	,	,		14025	0.3244		0.4225	False		,,,				2504	0.4243				p.V68V		Atlas-SNP	.											.	PCDHGB7	117	.	0			c.G204T						PASS	.	T	,,,,,,,,,,,,,,,,,	3121,775		1265,591,92	70	77	75		,,,,,,,,,,,,,,,204,,204	-4.5	0.9	5	dbSNP_92	75	3568,4730		755,2058,1336	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,,,	2020,2649,1428	TT,TG,GG		42.9983,19.8922,45.1452	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,68/930,,68/809	140797630	6689,5505	1948	4149	6097	SO:0001819	synonymous_variant	56099	exon1			GCGAGTGAGCGCG	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.204G>T	5.37:g.140797630G>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	170	167	0.982353	NM_018927	Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																			G|0.500;T|0.500	0.500	strong		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		T	140797630	G	T	140797630	2	4	22	1	0	0	0	0	0	0	0	1	11568	1277	45	4		4	PCDHGB7	5	140797630	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4623	140797630	40117630	3246	8354										
PCDHGA11	56105	hgsc.bcm.edu	37	chr5	140801104	140801104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagacggtgtcctcctgtTttttaaatatggaacttctc	9	8	1	1	rs11167744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140801104T>C	ENST00000398587.2	+	1	343	c.310T>C	c.(310-312)Ttt>Ctt	p.F104L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.F104L|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		F -> L (in dbSNP:rs11167744).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTCCTGTTTTTTAAATAT	0.498													t|||	567	0.113219	0.1195	0.1499	5008	,	,		17586	0.1181		0.0596	False		,,,				2504	0.1288				p.F104L		Atlas-SNP	.											.	PCDHGA11	128	.	0			c.T310C						PASS	.	T	,,,LEU/PHE,,,,,,,,,,,,,,,LEU/PHE,LEU/PHE	469,3667		25,419,1624	32	37	36		,,,310,,,,,,,,,,,,,,,310,310	-3.1	1	5	dbSNP_120	36	624,7896		25,574,3661	yes	intron,intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,22,,,,,,,,,,,,,,,22,22	50,993,5285	CC,CT,TT		7.3239,11.3395,8.6362	,,,,,,,,,,,,,,,,,,,	,,,104/936,,,,,,,,,,,,,,,104/838,104/751	140801104	1093,11563	2068	4260	6328	SO:0001583	missense	56105	exon1			TCCTGTTTTTTAA	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.310T>C	5.37:g.140801104T>C	ENSP00000381589:p.Phe104Leu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	117	56	0.478632	NM_032091	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	CCDS47294.1	220	0.10073260073260074	53	0.10772357723577236	47	0.1298342541436464	69	0.12062937062937062	51	0.06728232189973615	t	2.098	-0.406756	0.04832	0.113395	0.073239	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.24350	1.86;1.86	5.93	-3.06	0.05379	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	1.496170	0.06373	N	0.713909	T	0.00039	0.0001	N	0.00300	-1.685	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32824	-0.9892	9	0.02654	T	1	.	0.9188	0.01310	0.4206:0.1385:0.1628:0.2782	rs11167744;rs61342402;rs11167744	104;104;104	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	L	104	ENSP00000381589:F104L;ENSP00000428333:F104L	ENSP00000381589:F104L	F	+	1	0	PCDHGA11	140781288	0.000000	0.05858	0.979000	0.43373	0.990000	0.78478	-3.692000	0.00391	-0.129000	0.11620	0.482000	0.46254	TTT	T|0.896;C|0.104	0.104	strong		0.498	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		C	140801104	T	C	140801104	3	2	22	1	0	0	0	0	1	0	0	0	11552	1841	64	2	312	2	PCDHGA11	5	140801104	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3474	140801104	40114156	3247	8355										
PCDHGA11	56105	hgsc.bcm.edu	37	chr5	140801298	140801298	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtgggcgtgaactccctCcagagctaccagctcagccc	11	15	1	2	rs73792198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140801298C>A	ENST00000398587.2	+	1	537	c.504C>A	c.(502-504)ctC>ctA	p.L168L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.L168L|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTCCCTCCAGAGCTACC	0.537													c|||	641	0.127995	0.1762	0.1513	5008	,	,		18291	0.1181		0.0586	False		,,,				2504	0.1278				p.L168L		Atlas-SNP	.											.	PCDHGA11	128	.	0			c.C504A						PASS	.	C	,,,,,,,,,,,,,,,,,,,	660,3218		58,544,1337	36	37	37		,,,504,,,,,,,,,,,,,,,504,504	-0.1	1	5	dbSNP_130	37	617,7691		25,567,3562	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,,,,,,,,,,,,,,,,,	83,1111,4899	AA,AC,CC		7.4266,17.0191,10.4792	,,,,,,,,,,,,,,,,,,,	,,,168/936,,,,,,,,,,,,,,,168/838,168/751	140801298	1277,10909	1939	4154	6093	SO:0001819	synonymous_variant	56105	exon1			CTCCCTCCAGAGC	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.504C>A	5.37:g.140801298C>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	NM_032091	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																			C|0.885;A|0.115	0.115	strong		0.537	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		A	140801298	C	A	140801298	2	1	22	1	0	0	0	0	0	0	0	1	11552	842	30	4		4	PCDHGA11	5	140801298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	194	140801298	40113962	3248	8356										
PCDHGA11	56105	hgsc.bcm.edu	37	chr5	140802723	140802723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgcgctcaagcagagcctCgtggtggccgtccaggacca	14	14	1	1	rs62378456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140802723C>T	ENST00000398587.2	+	1	1962	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGCCTCGTGGTGGCCG	0.701													c|||	190	0.0379393	0.0756	0.036	5008	,	,		16447	0.001		0.0328	False		,,,				2504	0.0317				p.L643L		Atlas-SNP	.											.	PCDHGA11	128	.	0			c.C1929T						PASS	.	C	,,,,,,,,,,,,,,,,,,,	254,4152	127.8+/-164.7	7,240,1956	41	49	46		,,,1929,,,,,,,,,,,,,,,1929,	-4.8	1	5	dbSNP_129	46	315,8281	107.6+/-168.3	6,303,3989	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,,,,,,,,,,,,,,,,,	13,543,5945	TT,TC,CC		3.6645,5.7649,4.3762	,,,,,,,,,,,,,,,,,,,	,,,643/936,,,,,,,,,,,,,,,643/838,	140802723	569,12433	2203	4298	6501	SO:0001819	synonymous_variant	56105	exon1			GAGCCTCGTGGTG	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1929C>T	5.37:g.140802723C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	163	84	0.515337	NM_032091	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																			C|0.963;T|0.037	0.037	strong		0.701	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		T	140802723	C	T	140802723	2	4	22	1	0	0	0	0	0	0	0	1	11552	871	31	1		1	PCDHGA11	5	140802723	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1425	140802723	40112537	3249	8357										
PCDHGA11	56102	hgsc.bcm.edu	37	chr5	140803241	140803241	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcaggtgagatttatttCtctgcctcctaattgttggt	8	7	2	1	rs57195665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140803241C>A	ENST00000576222.1	+	1	2546				PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTTATTTCTCTGCCTCCT	0.453													c|||	567	0.113219	0.1195	0.1499	5008	,	,		14734	0.1171		0.0596	False		,,,				2504	0.1299				p.S816Y		Atlas-SNP	.											.	PCDHGA11	128	.	0			c.C2447A						PASS	.	C	,,,,,,,,,,,,,,,,,,TYR/SER,	476,3742		26,424,1659	33	37	36		,,,,,,,,,,,,,,,,,,2447,	-2	0	5	dbSNP_129	36	632,7882		25,582,3650	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,,,,,,,,,,,,,,,,144,	51,1006,5309	AA,AC,CC		7.4231,11.285,8.7025	,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,816/838,	140803241	1108,11624	2109	4257	6366	SO:0001627	intron_variant	56105	exon1			TTATTTCTCTGCC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+50865C>A	5.37:g.140803241C>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	121	70	0.578512	NM_032091	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																			C|0.900;A|0.100	0.100	strong		0.453	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140803241	C	A	140803241	1	1	22	0	1	0	0	0	0	0	0	0	11552	913	32	4		4	PCDHGA11	5	140803241	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	518	140803241	40112019	3250	8358										
PCDHGC3	5098	hgsc.bcm.edu	37	chr5	140857798	140857798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctggtttctgtggggttTgtggtcacagtgttcggagt	15	6	2	0	rs1423148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140857798T>C	ENST00000308177.3	+	1	2219	c.2115T>C	c.(2113-2115)ttT>ttC	p.F705F	PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	705					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)			CTGTGGGGTTTGTGGTCACAG	0.498											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2776	0.554313	0.8903	0.6182	5008	,	,		19318	0.3264		0.4225	False		,,,				2504	0.4254				p.F705F		Atlas-SNP	.											.	PCDHGC3	173	.	0			c.T2115C						PASS	.	C	,,,,,,,,,,,,,,,,,,,,,,	3637,769	308.8+/-290.8	1499,639,65	205	250	235		2115,,,,,,,,,,,,,,,,,,,,,2115,	-1.6	0.6	5	dbSNP_88	235	3681,4919	618.6+/-396.8	779,2123,1398	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032402.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,	2278,2762,1463	CC,CT,TT		42.8023,17.4535,43.7337	,,,,,,,,,,,,,,,,,,,,,,	705/935,,,,,,,,,,,,,,,,,,,,,705/864,	140857798	7318,5688	2203	4300	6503	SO:0001819	synonymous_variant	5098	exon1			GGGGTTTGTGGTC	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.2115T>C	5.37:g.140857798T>C		Somatic	90	0	0	1659	WXS	Illumina HiSeq	Phase_I	90	90	1	NM_032402	O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	CCDS4261.1																																																																																			A|0.002;C|0.545	0.545	strong		0.498	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		C	140857798	T	C	140857798	2	2	22	1	0	0	0	0	0	0	0	1	11569	1809	63	2		2	PCDHGC3	5	140857798	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	54557	140857798	40057462	3251	8359										
PCDHGC4	26025	hgsc.bcm.edu	37	chr5	140867347	140867347	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtgctttgtaactgtttCgtgaattaaccagagttgtc	10	7	0	2	rs1423149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140867347C>T	ENST00000252085.3	+	2	2566				PCDHGB4_ENST00000519479.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACTGTTTCGTGAATTAAC	0.438																																					p.F869F		Atlas-SNP	.											.	PCDHGC4	91	.	0			c.C2607T						PASS	.	C	,,,,,,,,,,,,,,,,,,,,,,,	680,1686		93,494,596	88	86	87		,,,,,,,,,,,,,,,,,,,,,,,2607	2.4	0.6	5	dbSNP_88	87	207,4269		4,199,2035	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032406.1	,,,,,,,,,,,,,,,,,,,,,,,	97,693,2631	TT,TC,CC		4.6247,28.7405,12.964	,,,,,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,,,,,869/872	140867347	887,5955	1183	2238	3421	SO:0001627	intron_variant	56098	exon1			CTGTTTCGTGAAT	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2425-7027C>T	5.37:g.140867347C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_032406	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																			C|0.866;T|0.134	0.134	strong		0.438	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140867347	C	T	140867347	1	4	22	0	1	0	0	0	0	0	0	0	11570	883	31	1		1	PCDHGC4	5	140867347	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9549	140867347	40047913	3252	8360										
PCDHGA1	26025	hgsc.bcm.edu	37	chr5	140890573	140890573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccatgggattgagcgccCgctacggaccccagttcacc	11	16	1	1	rs148119281		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:140890573C>T	ENST00000252085.3	+	4	2774	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	PCDHGA8_ENST00000398604.2_Missense_Mutation_p.R878C|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.R884C|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R696C|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.R882C|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.R890C|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.R880C|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.R878C|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.R873C|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.R877C|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.R875C|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.R878C|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.R877C|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.R869C|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.R877C|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.R877C|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.R875C|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.R878C|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.R878C|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.R878C|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.R881C|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.R876C	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	878					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGCGCCCGCTACGGACC	0.617																																					p.R890C		Atlas-SNP	.											PCDHG_cluster,NS,carcinoma,-1,24	PCDHGC5	199	24	0			c.C2668T						scavenged	.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	98	96		2638,2632,2605,2629,2644,2641,2632,2632,2629,2629,2632,2632,2632,2617,2629,2623,2605,2626,2623,2650,2668,2632,2086,238	4	1	5	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1	180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	880/935,878/933,869/924,877/932,882/937,881/936,878/933,878/933,877/932,877/932,878/933,878/933,878/933,873/928,877/932,875/930,869/924,876/931,875/930,884/939,890/945,878/933,696/751,80/135	140890573	1,13005	2203	4300	6503	SO:0001583	missense	56097	exon4			AGCGCCCGCTACG	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2632C>T	5.37:g.140890573C>T	ENSP00000252085:p.Arg878Cys	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	233	3	0.0128755	NM_018929	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731040	0.69074	2.27E-4	0.0	ENSG00000204956;ENSG00000081853;ENSG00000254245;ENSG00000254221;ENSG00000253910;ENSG00000253485;ENSG00000253731;ENSG00000253537;ENSG00000253953;ENSG00000253767;ENSG00000253305;ENSG00000253846;ENSG00000254122;ENSG00000253873;ENSG00000253873;ENSG00000253159;ENSG00000240184;ENSG00000242419;ENSG00000240764	ENST00000517417;ENST00000394576;ENST00000253812;ENST00000523390;ENST00000522605;ENST00000518069;ENST00000517434;ENST00000518325;ENST00000519479;ENST00000398604;ENST00000520790;ENST00000398610;ENST00000398594;ENST00000398587;ENST00000518882;ENST00000252085;ENST00000308177;ENST00000306593;ENST00000252087	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	4.9	4.04	0.47022	.	0.000000	0.46442	D	0.000281	D	0.95648	0.8585	L	0.41236	1.265	0.54753	D	0.999988	D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.89917	0.97;0.599;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.901;1.0;1.0	B;B;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P;D;D	0.97110	0.318;0.064;0.999;0.996;0.991;0.999;1.0;0.999;0.991;0.926;1.0;0.84;1.0;0.999;1.0;0.999;0.999;1.0;0.999;1.0;0.926;0.548;1.0;0.993	D	0.95192	0.8309	10	0.87932	D	0	.	9.1172	0.36764	0.1458:0.7772:0.0:0.0769	.	890;884;80;880;878;881;696;875;882;876;878;869;878;869;878;878;875;877;877;877;873;878;878;877	Q9Y5F6;Q9Y5F7;Q9BR81;Q9UN70;O60330;Q9Y5H2;Q9Y5H2-3;Q9Y5F8;Q9Y5H3;Q9Y5F9;Q9Y5G4;Q9Y5G0;Q9Y5G5;Q9UN71;Q9Y5G6;Q9Y5G7;Q9Y5G1;Q9Y5G8;Q9Y5G2;Q9Y5G9;Q9Y5G3;Q9Y5H0;Q9Y5H1;Q9Y5H4	PCDGM_HUMAN;PCDGL_HUMAN;.;PCDGK_HUMAN;PCDGC_HUMAN;PCDGB_HUMAN;.;PCDGJ_HUMAN;PCDGA_HUMAN;PCDGI_HUMAN;PCDG9_HUMAN;PCDGH_HUMAN;PCDG8_HUMAN;PCDGG_HUMAN;PCDG7_HUMAN;PCDG6_HUMAN;PCDGF_HUMAN;PCDG5_HUMAN;PCDGE_HUMAN;PCDG4_HUMAN;PCDGD_HUMAN;PCDG3_HUMAN;PCDG2_HUMAN;PCDG1_HUMAN	C	877;878;878;873;877;877;878;878;869;878;876;882;875;881;696;878;880;884;890	ENSP00000431083:R877C;ENSP00000378077:R878C;ENSP00000253812:R878C;ENSP00000429273:R873C;ENSP00000429018:R877C;ENSP00000429834:R877C;ENSP00000429601:R878C;ENSP00000430024:R878C;ENSP00000428288:R869C;ENSP00000381605:R878C;ENSP00000428603:R876C;ENSP00000381611:R882C;ENSP00000381594:R875C;ENSP00000381589:R881C;ENSP00000428333:R696C;ENSP00000252085:R878C;ENSP00000312070:R880C;ENSP00000306918:R884C;ENSP00000252087:R890C	ENSP00000381611:R882C	R	+	1	0	PCDHGA12;PCDHGA10;PCDHGA11;PCDHGB7;PCDHGA8;PCDHGC5;PCDHGA7;PCDHGB6;PCDHGC4;PCDHGA6;PCDHGC3;PCDHGA5;PCDHGA3;PCDHGB2;PCDHGA2;PCDHGA1;PCDHGB4;PCDHGB1	140870757	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.317000	0.51968	1.290000	0.44636	0.511000	0.50034	CGC	C|1.000;T|0.000	0.000	weak		0.617	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140890573	C	T	140890573	3	4	22	1	0	0	0	0	1	0	0	0	11550	652	23	1	2693	1	PCDHGA1	5	140890573	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23226	140890573	40024687	3253	8361										
ARAP3	64411	hgsc.bcm.edu	37	chr5	141036337	141036337	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttttttcaagagcagggaAgctgagcagggctctgggag	15	7	2	2	rs7703648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141036337A>G	ENST00000239440.4	-	26	3668	c.3603T>C	c.(3601-3603)gcT>gcC	p.A1201A	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Silent_p.A863A|ARAP3_ENST00000508305.1_Silent_p.A1032A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1201	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1201A(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGAGCAGGGAAGCTGAGCAGG	0.577													G|||	2411	0.48143	0.7065	0.4885	5008	,	,		18041	0.3889		0.4314	False		,,,				2504	0.319				p.A1201A		Atlas-SNP	.											ARAP3,NS,carcinoma,0,1	ARAP3	139	1	1	Substitution - coding silent(1)	stomach(1)	c.T3603C						PASS	.	G		2873,1533	476.8+/-357.7	935,1003,265	40	40	40		3603	-0.1	1	5	dbSNP_116	40	3475,5125	626.4+/-397.8	733,2009,1558	no	coding-synonymous	ARAP3	NM_022481.5		1668,3012,1823	GG,GA,AA		40.407,34.7935,48.8082		1201/1545	141036337	6348,6658	2203	4300	6503	SO:0001819	synonymous_variant	64411	exon26			CAGGGAAGCTGAG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3603T>C	5.37:g.141036337A>G		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_022481	B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	CCDS4266.1																																																																																			A|0.497;G|0.503	0.503	strong		0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		G	141036337	A	G	141036337	2	3	22	1	0	0	0	0	0	0	0	1	840	59	3	3		3	ARAP3	5	141036337	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	145764	141036337	39878923	3254	8362										
KIAA0141	9812	hgsc.bcm.edu	37	chr5	141307833	141307833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtcccctggaccgtttcTtctcatctcccttgtggcac	7	16	3	0	rs10036567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141307833T>C	ENST00000432126.2	+	4	516	c.382T>C	c.(382-384)Ttc>Ctc	p.F128L	KIAA0141_ENST00000194118.4_Missense_Mutation_p.F128L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	128			F -> L (in dbSNP:rs10036567).		extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGTTTCTTCTCATCTCC	0.627													C|||	789	0.157548	0.3835	0.0749	5008	,	,		18906	0.0099		0.0865	False		,,,				2504	0.136				p.F128L		Atlas-SNP	.											.	KIAA0141	44	.	0			c.T382C						PASS	.	C	LEU/PHE,LEU/PHE	1445,2961	682.2+/-404.1	235,975,993	104	98	100		382,382	4.8	0.8	5	dbSNP_119	100	722,7878	786.4+/-407.6	26,670,3604	yes	missense,missense	KIAA0141	NM_001142603.1,NM_014773.3	22,22	261,1645,4597	CC,CT,TT		8.3953,32.7962,16.6615	benign,benign	128/516,128/516	141307833	2167,10839	2203	4300	6503	SO:0001583	missense	9812	exon4			CGTTTCTTCTCAT	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.382T>C	5.37:g.141307833T>C	ENSP00000396225:p.Phe128Leu	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	150	76	0.506667	NM_001142603	Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	CCDS4268.1	290	0.13278388278388278	191	0.3882113821138211	32	0.08839779005524862	7	0.012237762237762238	60	0.079155672823219	C	2.862	-0.235939	0.05944	0.327962	0.083953	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.14766	2.96;2.96;2.48	5.62	4.75	0.60458	.	0.352416	0.26297	N	0.025200	T	0.00012	0.0000	N	0.00170	-1.935	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.02654	T	1	-7.1069	9.4807	0.38900	0.0:0.8348:0.0:0.1652	rs10036567;rs52831480;rs56547810;rs59311928;rs10036567	128	Q14154	DELE_HUMAN	L	128	ENSP00000396225:F128L;ENSP00000194118:F128L;ENSP00000422686:F128L	ENSP00000194118:F128L	F	+	1	0	KIAA0141	141288017	0.924000	0.31332	0.756000	0.31282	0.471000	0.32888	1.118000	0.31246	0.856000	0.35383	-0.227000	0.12334	TTC	T|0.836;C|0.164	0.164	strong		0.627	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		C	141307833	T	C	141307833	3	2	22	1	0	0	0	0	1	0	0	0	8156	1609	56	3	396	3	KIAA0141	5	141307833	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	271496	141307833	39607427	3255	8363										
KIAA0141	9812	hgsc.bcm.edu	37	chr5	141309752	141309752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttcccaggaacaagatAaatcaaaaactctttccctt	3	11	3	1	rs76602789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141309752A>G	ENST00000432126.2	+	7	801	c.667A>G	c.(667-669)Aaa>Gaa	p.K223E	KIAA0141_ENST00000194118.4_Missense_Mutation_p.K223E	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	223					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACAAGATAAATCAAAAAC	0.458													A|||	87	0.0173722	0.062	0.0058	5008	,	,		20345	0.0		0.001	False		,,,				2504	0.0				p.K223E		Atlas-SNP	.											.	KIAA0141	44	.	0			c.A667G						PASS	.	A	GLU/LYS,GLU/LYS	218,4188	133.3+/-169.7	5,208,1990	66	69	68		667,667	-0.9	0	5	dbSNP_131	68	0,8600		0,0,4300	yes	missense,missense	KIAA0141	NM_001142603.1,NM_014773.3	56,56	5,208,6290	GG,GA,AA		0.0,4.9478,1.6761	benign,benign	223/516,223/516	141309752	218,12788	2203	4300	6503	SO:0001583	missense	9812	exon7			CAAGATAAATCAA	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.667A>G	5.37:g.141309752A>G	ENSP00000396225:p.Lys223Glu	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	141	77	0.546099	NM_001142603	Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	CCDS4268.1	31	0.014194139194139194	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	9.978	1.227280	0.22542	0.049478	0.0	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18657	2.68;2.68;2.2	4.73	-0.912	0.10504	.	0.760161	0.12637	N	0.451616	T	0.01124	0.0037	L	0.28504	0.86	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35076	-0.9803	10	0.15499	T	0.54	-1.7713	6.5704	0.22535	0.4334:0.4756:0.0911:0.0	.	223	Q14154	DELE_HUMAN	E	223	ENSP00000396225:K223E;ENSP00000194118:K223E;ENSP00000422686:K223E	ENSP00000194118:K223E	K	+	1	0	KIAA0141	141289936	0.000000	0.05858	0.001000	0.08648	0.447000	0.32167	0.211000	0.17474	-0.014000	0.14175	0.254000	0.18369	AAA	A|0.980;G|0.020	0.020	strong		0.458	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		G	141309752	A	G	141309752	3	3	22	1	0	0	0	0	1	0	0	0	8156	363	13	2	693	2	KIAA0141	5	141309752	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1919	141309752	39605508	3256	8364										
KIAA0141	9812	hgsc.bcm.edu	37	chr5	141313888	141313888	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgcctactacgagacccAgcctcttcgtggaaccctga	10	14	1	2	rs115183657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141313888A>C	ENST00000432126.2	+	9	1115	c.981A>C	c.(979-981)ccA>ccC	p.P327P	KIAA0141_ENST00000194118.4_Silent_p.P327P	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	327					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGAGACCCAGCCTCTTCGT	0.597													A|||	44	0.00878594	0.0318	0.0029	5008	,	,		14901	0.0		0.0	False		,,,				2504	0.0				p.P327P		Atlas-SNP	.											.	KIAA0141	44	.	0			c.A981C						PASS	.	A	,	104,4302	79.9+/-118.3	0,104,2099	49	47	48		981,981	-7	0	5	dbSNP_132	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIAA0141	NM_001142603.1,NM_014773.3	,	0,104,6399	CC,CA,AA		0.0,2.3604,0.7996	,	327/516,327/516	141313888	104,12902	2203	4300	6503	SO:0001819	synonymous_variant	9812	exon9			AGACCCAGCCTCT	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.981A>C	5.37:g.141313888A>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	129	61	0.472868	NM_001142603	Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	CCDS4268.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	A	0.525	-0.860231	0.02610	0.023604	0.0	ENSG00000081791	ENST00000507481	.	.	.	5.55	-6.96	0.01622	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-1.6157	4.7459	0.13036	0.1625:0.5451:0.1777:0.1147	.	.	.	.	P	29	.	.	Q	+	2	0	KIAA0141	141294072	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.619000	0.05572	-1.086000	0.03084	-0.290000	0.09829	CAG	A|0.991;C|0.009	0.009	strong		0.597	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		C	141313888	A	C	141313888	2	2	22	1	0	0	0	0	0	0	0	1	8156	175	7	5		5	KIAA0141	5	141313888	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4136	141313888	39601372	3257	8365										
PCDH12	51294	hgsc.bcm.edu	37	chr5	141329059	141329059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgcttcacagagaggtccTcttcaggatccaaaggccct	10	12	3	1	rs61737141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141329059T>G	ENST00000231484.3	-	3	4278	c.3068A>C	c.(3067-3069)gAg>gCg	p.E1023A	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1023					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGGTCCTCTTCAGGATC	0.562													T|||	32	0.00638978	0.0242	0.0	5008	,	,		18789	0.0		0.0	False		,,,				2504	0.0				p.E1023A		Atlas-SNP	.											.	PCDH12	133	.	0			c.A3068C						PASS	.	T	ALA/GLU	125,4281	93.0+/-131.7	3,119,2081	159	152	154		3068	3.3	1	5	dbSNP_129	154	0,8600		0,0,4300	yes	missense	PCDH12	NM_016580.2	107	3,119,6381	GG,GT,TT		0.0,2.837,0.9611	possibly-damaging	1023/1185	141329059	125,12881	2203	4300	6503	SO:0001583	missense	51294	exon3			AGGTCCTCTTCAG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3068A>C	5.37:g.141329059T>G	ENSP00000231484:p.Glu1023Ala	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	T	14.87	2.663251	0.47572	0.02837	0.0	ENSG00000113555	ENST00000231484	T	0.52754	0.65	5.8	3.34	0.38264	.	0.387701	0.27739	N	0.018060	T	0.15609	0.0376	L	0.57536	1.79	0.26311	N	0.977823	B	0.29716	0.255	B	0.26614	0.071	T	0.06716	-1.0811	10	0.33141	T	0.24	.	5.3998	0.16288	0.1828:0.0:0.1684:0.6488	.	1023	Q9NPG4	PCD12_HUMAN	A	1023	ENSP00000231484:E1023A	ENSP00000231484:E1023A	E	-	2	0	PCDH12	141309243	0.960000	0.32886	1.000000	0.80357	0.985000	0.73830	1.632000	0.37102	2.224000	0.72417	0.533000	0.62120	GAG	T|0.989;G|0.011	0.011	strong		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141329059	T	G	141329059	3	3	22	1	0	0	0	0	1	0	0	0	11510	1551	54	5	494	5	PCDH12	5	141329059	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15171	141329059	39586201	3258	8366										
PCDH12	51294	hgsc.bcm.edu	37	chr5	141331098	141331098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtacttatttcctcggtGgtttggtttgggctggaatt	12	6	0	0	rs115735066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141331098G>A	ENST00000231484.3	-	2	4148	c.2938C>T	c.(2938-2940)Cac>Tac	p.H980Y	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	980					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTCGGTGGTTTGGTTTG	0.547											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	44	0.00878594	0.0318	0.0029	5008	,	,		20762	0.0		0.0	False		,,,				2504	0.0				p.H980Y		Atlas-SNP	.											.	PCDH12	133	.	0			c.C2938T						PASS	.	G	TYR/HIS	104,4302	81.4+/-119.9	0,104,2099	113	103	106		2938	6.1	1	5	dbSNP_132	106	0,8600		0,0,4300	yes	missense	PCDH12	NM_016580.2	83	0,104,6399	AA,AG,GG		0.0,2.3604,0.7996	probably-damaging	980/1185	141331098	104,12902	2203	4300	6503	SO:0001583	missense	51294	exon2			CTCGGTGGTTTGG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2938C>T	5.37:g.141331098G>A	ENSP00000231484:p.His980Tyr	Somatic	106	0	0	1663	WXS	Illumina HiSeq	Phase_I	118	45	0.381356	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	G	17.98	3.520092	0.64747	0.023604	0.0	ENSG00000113555	ENST00000231484	T	0.52754	0.65	6.08	6.08	0.98989	.	0.107907	0.64402	D	0.000003	T	0.21022	0.0506	M	0.62723	1.935	0.42331	D	0.992297	P	0.43788	0.817	B	0.39339	0.297	T	0.15809	-1.0424	10	0.36615	T	0.2	.	11.4227	0.49991	0.0811:0.0:0.9189:0.0	.	980	Q9NPG4	PCD12_HUMAN	Y	980	ENSP00000231484:H980Y	ENSP00000231484:H980Y	H	-	1	0	PCDH12	141311282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.894000	0.99253	0.655000	0.94253	CAC	G|0.991;A|0.009	0.009	strong		0.547	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		A	141331098	G	A	141331098	3	1	22	1	0	0	0	0	1	0	0	0	11510	1348	47	2	628	2	PCDH12	5	141331098	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2039	141331098	39584162	3259	8367										
PCDH12	51294	hgsc.bcm.edu	37	chr5	141336858	141336858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtttggtctcatcagggcCcacaatgacatccaaggcaa	9	11	2	1	rs140883612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141336858C>T	ENST00000231484.3	-	1	1769	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAGGGCCCACAATGACA	0.507													C|||	42	0.00838658	0.0303	0.0029	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.0				p.G187S		Atlas-SNP	.											.	PCDH12	133	.	0			c.G559A						PASS	.	C	SER/GLY	104,4302	81.4+/-119.9	0,104,2099	102	111	108		559	5	1	5	dbSNP_134	108	0,8600		0,0,4300	yes	missense	PCDH12	NM_016580.2	56	0,104,6399	TT,TC,CC		0.0,2.3604,0.7996	probably-damaging	187/1185	141336858	104,12902	2203	4300	6503	SO:0001583	missense	51294	exon1			CAGGGCCCACAAT	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.559G>A	5.37:g.141336858C>T	ENSP00000231484:p.Gly187Ser	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	225	106	0.471111	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	C	10.27	1.304137	0.23736	0.023604	0.0	ENSG00000113555	ENST00000231484	T	0.19669	2.13	4.98	4.98	0.66077	Cadherin (4);Cadherin-like (1);	0.127172	0.52532	D	0.000076	T	0.10294	0.0252	L	0.39898	1.24	0.35472	D	0.797432	D	0.62365	0.991	P	0.60541	0.876	T	0.06058	-1.0848	10	0.13108	T	0.6	.	9.2129	0.37328	0.0:0.9043:0.0:0.0957	.	187	Q9NPG4	PCD12_HUMAN	S	187	ENSP00000231484:G187S	ENSP00000231484:G187S	G	-	1	0	PCDH12	141317042	0.001000	0.12720	1.000000	0.80357	0.554000	0.35429	0.429000	0.21412	2.605000	0.88082	0.655000	0.94253	GGC	C|0.991;T|0.009	0.009	strong		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		T	141336858	C	T	141336858	3	4	22	1	0	0	0	0	1	0	0	0	11510	623	22	2	3011	2	PCDH12	5	141336858	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5760	141336858	39578402	3260	8368										
GNPDA1	10007	hgsc.bcm.edu	37	chr5	141381630	141381630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcgaagattggcttttCtcagtttctttctctttgat	6	8	4	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:141381630C>T	ENST00000508177.1	-	6	1592	c.834G>A	c.(832-834)gaG>gaA	p.E278E	GNPDA1_ENST00000458112.2_Silent_p.E244E|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000311337.6_Silent_p.E278E|GNPDA1_ENST00000503794.1_Silent_p.E278E|GNPDA1_ENST00000500692.2_Silent_p.E278E|GNPDA1_ENST00000542860.1_Silent_p.E201E			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	278					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGCTTTTCTCAGTTTCTT	0.383																																					p.E278E		Atlas-SNP	.											GNPDA1,colon,carcinoma,0,1	GNPDA1	16	1	0			c.G834A						scavenged	.						139	133	135					5																	141381630		2203	4300	6503	SO:0001819	synonymous_variant	10007	exon7			GCTTTTCTCAGTT	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.834G>A	5.37:g.141381630C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	131	4	0.0305344	NM_005471	B7Z3X4|D3DQE7	Silent	SNP	ENST00000508177.1	37	CCDS4272.1																																																																																			.	.	none		0.383	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		T	141381630	C	T	141381630	2	4	22	1	0	0	0	0	0	0	0	1	6542	912	32	2		2	GNPDA1	5	141381630	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44772	141381630	39533630	3261	8369										
ARHGAP26	23092	hgsc.bcm.edu	37	chr5	142254679	142254679	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttctgttttccagcaagAtctttgcaggagtttgccac	8	11	2	1	rs185200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:142254679A>G	ENST00000274498.4	+	3	633	c.255A>G	c.(253-255)agA>agG	p.R85R	ARHGAP26_ENST00000378004.3_Silent_p.R85R	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	85					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGCAAGATCTTTGCAGG	0.483													G|||	3374	0.673722	0.8979	0.5058	5008	,	,		19158	0.8581		0.3091	False		,,,				2504	0.6748				p.R85R		Atlas-SNP	.											.	ARHGAP26	57	.	0			c.A255G						PASS	.	G	,	3440,966	362.4+/-316.1	1350,740,113	114	103	107		255,255	2.6	1	5	dbSNP_79	107	2569,6031	690.7+/-404.5	378,1813,2109	no	coding-synonymous,coding-synonymous	ARHGAP26	NM_001135608.1,NM_015071.4	,	1728,2553,2222	GG,GA,AA		29.8721,21.9246,46.2018	,	85/760,85/815	142254679	6009,6997	2203	4300	6503	SO:0001819	synonymous_variant	23092	exon3			AGCAAGATCTTTG	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.255A>G	5.37:g.142254679A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	132	55	0.416667	NM_015071	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	CCDS4277.1																																																																																			A|0.466;G|0.534	0.534	strong		0.483	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		G	142254679	A	G	142254679	2	3	22	1	0	0	0	0	0	0	0	1	875	330	12	2		2	ARHGAP26	5	142254679	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	873049	142254679	38660581	3262	8370										
HMHB1	57824	hgsc.bcm.edu	37	chr5	143200053	143200053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttctataggttctctgCatgtttggaagtcggaattg	10	6	3	0	rs161557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:143200053C>T	ENST00000289448.2	+	2	153	c.46C>T	c.(46-48)Cat>Tat	p.H16Y	CTB-57H20.1_ENST00000503323.1_RNA	NM_021182.1	NP_067005	O97980	HMHB1_HUMAN	histocompatibility (minor) HB-1	16	Loss of recognition by cytotoxic T lymphocyte (CTL).		H -> Y (in allele HB-1Y; loss of CTL recognition for epitope HB-1. No influence on HLA-B/HLA-B44 binding, nor on the processing by the proteasome; dbSNP:rs161557). {ECO:0000269|PubMed:9892612}.		immune system process (GO:0002376)								Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGGTTCTCTGCATGTTTGGAA	0.393													C|||	1464	0.292332	0.295	0.3343	5008	,	,		16673	0.3889		0.2227	False		,,,				2504	0.2311				p.H16Y		Atlas-SNP	.											.	HMHB1	3	.	0			c.C46T						PASS	.	C	TYR/HIS	950,2776		114,722,1027	257	232	239		46	-2.3	0	5	dbSNP_79	239	1797,6417		203,1391,2513	yes	missense	HMHB1	NM_021182.1	83	317,2113,3540	TT,TC,CC		21.8773,25.4965,23.0067	benign	16/42	143200053	2747,9193	1863	4107	5970	SO:0001583	missense	57824	exon2			TCTCTGCATGTTT	AF103884	CCDS43376.1	5q32	2006-07-20			ENSG00000158497	ENSG00000158497			29677	protein-coding gene	gene with protein product		609961				9892612	Standard	NM_021182		Approved	HB-1	uc003lnj.3	O97980	OTTHUMG00000163173	ENST00000289448.2:c.46C>T	5.37:g.143200053C>T	ENSP00000289448:p.His16Tyr	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	192	83	0.432292	NM_021182	Q9MY25	Missense_Mutation	SNP	ENST00000289448.2	37	CCDS43376.1	610	0.2793040293040293	133	0.2703252032520325	93	0.2569060773480663	228	0.3986013986013986	156	0.20580474934036938	C	8.763	0.924004	0.18056	0.254965	0.218773	ENSG00000158497	ENST00000289448	T	0.62498	0.02	5.38	-2.32	0.06745	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.25166	P	0.990314	B	0.17268	0.021	B	0.12156	0.007	T	0.39860	-0.9593	7	0.87932	D	0	.	0.1886	0.00131	0.3003:0.2066:0.1481:0.345	rs161557;rs52812230;rs61290874;rs161557	16	O97980	HMHB1_HUMAN	Y	16	ENSP00000289448:H16Y	ENSP00000289448:H16Y	H	+	1	0	HMHB1	143180246	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.312000	0.08113	-0.226000	0.09899	0.563000	0.77884	CAT	C|0.720;T|0.280	0.280	strong		0.393	HMHB1-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371899.1	NM_021182		T	143200053	C	T	143200053	3	4	22	1	0	0	0	0	1	0	0	0	7241	710	25	2	52	2	HMHB1	5	143200053	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	945374	143200053	37715207	3263	8371										
SH3RF2	153769	hgsc.bcm.edu	37	chr5	145428665	145428665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgcactcctactcagcCcatggacccgatgagctgga	10	16	1	1	rs35937996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:145428665C>A	ENST00000511217.1	+	6	1231	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A	SH3RF2_ENST00000359120.4_Silent_p.A393A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	393	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTACTCAGCCCATGGACCCG	0.627											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	103	0.0205671	0.0673	0.0072	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0092				p.A393A		Atlas-SNP	.											.	SH3RF2	58	.	0			c.C1179A						PASS	.	C		232,4174	136.5+/-172.5	2,228,1973	72	59	63		1179	4.3	1	5	dbSNP_126	63	0,8600		0,0,4300	no	coding-synonymous	SH3RF2	NM_152550.3		2,228,6273	AA,AC,CC		0.0,5.2655,1.7838		393/730	145428665	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	153769	exon7			CTCAGCCCATGGA	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1179C>A	5.37:g.145428665C>A		Somatic	74	0	0	1694	WXS	Illumina HiSeq	Phase_I	75	33	0.44	NM_152550	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	CCDS4280.1																																																																																			C|0.982;A|0.018	0.018	strong		0.627	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145428665	C	A	145428665	2	1	22	1	0	0	0	0	0	0	0	1	14259	610	22	4		4	SH3RF2	5	145428665	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2228612	145428665	35486595	3264	8372										
GPR151	134391	hgsc.bcm.edu	37	chr5	145894896	145894896	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattcggggagccacaagaGagcagagatgatggcaatgc	14	9	0	3	rs7709485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:145894896G>C	ENST00000311104.2	-	1	857	c.781C>G	c.(781-783)Ctc>Gtc	p.L261V		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	261			L -> V (in dbSNP:rs7709485).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCACAAGAGAGCAGAGATG	0.502													G|||	1713	0.342053	0.2519	0.183	5008	,	,		19667	0.7669		0.1958	False		,,,				2504	0.2894				p.L261V	Pancreas(78;420 1386 18535 37114 49710)	Atlas-SNP	.											.	GPR151	35	.	0			c.C781G						PASS	.	G	VAL/LEU	1027,3379	378.5+/-322.9	120,787,1296	59	61	61		781	-1.6	0	5	dbSNP_116	61	1726,6874	314.9+/-312.0	172,1382,2746	yes	missense	GPR151	NM_194251.2	32	292,2169,4042	CC,CG,GG		20.0698,23.3091,21.1672	benign	261/420	145894896	2753,10253	2203	4300	6503	SO:0001583	missense	134391	exon1			ACAAGAGAGCAGA	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.781C>G	5.37:g.145894896G>C	ENSP00000308733:p.Leu261Val	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_194251	Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	CCDS34266.1	792	0.3626373626373626	114	0.23170731707317074	79	0.21823204419889503	457	0.798951048951049	142	0.18733509234828497	G	0.255	-1.003594	0.02128	0.233091	0.200698	ENSG00000173250	ENST00000311104	T	0.37584	1.19	5.91	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.302038	0.34110	N	0.004255	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	B	0.09022	0.002	B	0.14578	0.011	T	0.33033	-0.9884	9	0.13853	T	0.58	.	9.1674	0.37060	0.0:0.4239:0.2966:0.2795	rs7709485;rs17506353;rs52809074;rs58222574;rs7709485	261	Q8TDV0	GP151_HUMAN	V	261	ENSP00000308733:L261V	ENSP00000308733:L261V	L	-	1	0	GPR151	145875089	0.004000	0.15560	0.002000	0.10522	0.022000	0.10575	-0.025000	0.12413	-0.538000	0.06281	-0.175000	0.13238	CTC	G|0.723;C|0.277	0.277	strong		0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		C	145894896	G	C	145894896	3	2	22	1	0	0	0	0	1	0	0	0	6657	942	33	4	482	4	GPR151	5	145894896	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	466231	145894896	35020364	3265	8373										
SPINK1	6690	hgsc.bcm.edu	37	chr5	147207605	147207605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgattttcaaaacataacacGcattcattgggataagtatt	6	7	2	0	rs35737774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:147207605G>A	ENST00000296695.5	-	3	382	c.174C>T	c.(172-174)tgC>tgT	p.C58C	SPINK1_ENST00000510027.2_Silent_p.C58C	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	58	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATAACACGCATTCATTGG	0.323									Hereditary Pancreatitis																												p.C58C		Atlas-SNP	.											.	SPINK1	9	.	0			c.C174T						PASS	.	G		624,3782	272.5+/-270.8	42,540,1621	102	95	97		174	-1	0	5	dbSNP_126	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPINK1	NM_003122.3		42,541,5920	AA,AG,GG		0.0116,14.1625,4.8055		58/80	147207605	625,12381	2203	4300	6503	SO:0001819	synonymous_variant	6690	exon3	Familial Cancer Database		TAACACGCATTCA		CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"Serine peptidase inhibitors, Kazal type"	11244	protein-coding gene	gene with protein product		167790	"serine protease inhibitor, Kazal type 1"				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.174C>T	5.37:g.147207605G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_003122		Silent	SNP	ENST00000296695.5	37	CCDS4286.1																																																																																			G|0.956;A|0.044	0.044	strong		0.323	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		A	147207605	G	A	147207605	2	1	22	1	0	0	0	0	0	0	0	1	15056	1079	38	1		1	SPINK1	5	147207605	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1312709	147207605	33707655	3266	8374										
C5orf46	389336	hgsc.bcm.edu	37	chr5	147286013	147286013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgcatagcaggtcaggaAtaagacaagcagtcccagga	11	10	1	1	rs7722926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:147286013A>T	ENST00000318315.4	-	1	52	c.52T>A	c.(52-54)Ttc>Atc	p.F18I	C5orf46_ENST00000515291.1_Missense_Mutation_p.F18I|C5orf46_ENST00000510432.1_5'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	18			F -> I (in dbSNP:rs7722926). {ECO:0000269|PubMed:14702039}.			extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						CAGGTCAGGAATAAGACAAGC	0.458													T|||	1475	0.294529	0.6619	0.147	5008	,	,		17834	0.2232		0.0905	False		,,,				2504	0.1861				p.F18I		Atlas-SNP	.											.	C5orf46	8	.	0			c.T52A						PASS	.	T	ILE/PHE	2689,1717	514.9+/-368.7	819,1051,333	99	87	91		52	3.7	0.9	5	dbSNP_116	91	901,7699	777.8+/-407.7	52,797,3451	yes	missense	C5orf46	NM_206966.2	21	871,1848,3784	TT,TA,AA		10.4767,38.9696,27.6026	benign	18/88	147286013	3590,9416	2203	4300	6503	SO:0001583	missense	389336	exon1			TCAGGAATAAGAC		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.52T>A	5.37:g.147286013A>T	ENSP00000315370:p.Phe18Ile	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	368	368	1	NM_206966	A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	CCDS34267.1	576	0.26373626373626374	326	0.6626016260162602	56	0.15469613259668508	127	0.22202797202797203	67	0.08839050131926121	T	5.187	0.220059	0.09863	0.610304	0.104767	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.36340	1.26;1.26	4.88	3.7	0.42460	.	0.000000	0.49305	N	0.000160	T	0.00012	0.0000	.	.	.	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.46359	-0.9197	8	0.02654	T	1	-13.5441	5.7677	0.18235	0.1688:0.0:0.177:0.6542	rs7722926;rs56595669;rs7722926	18	Q6UWT4	CE046_HUMAN	I	18	ENSP00000315370:F18I;ENSP00000425984:F18I	ENSP00000315370:F18I	F	-	1	0	C5orf46	147266206	0.993000	0.37304	0.941000	0.38009	0.994000	0.84299	1.300000	0.33436	0.443000	0.26582	-0.257000	0.10917	TTC	A|0.710;T|0.290	0.290	strong		0.458	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		T	147286013	A	T	147286013	3	4	22	1	0	0	0	0	1	0	0	0	2305	101	4	5	223	5	C5orf46	5	147286013	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	78408	147286013	33629247	3267	8375										
SPINK5	11005	hgsc.bcm.edu	37	chr5	147480080	147480080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcttgcaccagagagaacGatcctatccagggcccagat	10	12	0	3	rs2303064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:147480080G>A	ENST00000256084.7	+	13	1198	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	SPINK5_ENST00000359874.3_Missense_Mutation_p.D386N|SPINK5_ENST00000398454.1_Missense_Mutation_p.D386N|SPINK5_ENST00000476608.1_3'UTR	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	386	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.		D -> N (in dbSNP:rs2303064).		anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGAGAACGATCCTATCCA	0.493													G|||	1744	0.348243	0.559	0.1614	5008	,	,		17510	0.4246		0.1213	False		,,,				2504	0.3507				p.D386N		Atlas-SNP	.											.	SPINK5	245	.	0			c.G1156A						PASS	.	G	ASN/ASP,ASN/ASP,ASN/ASP	1800,2126		404,992,567	159	155	156		1156,1156,1156	3.8	0.2	5	dbSNP_100	156	1044,7304		52,940,3182	yes	missense,missense,missense	SPINK5	NM_001127698.1,NM_001127699.1,NM_006846.3	23,23,23	456,1932,3749	AA,AG,GG		12.506,45.8482,23.1709	benign,benign,benign	386/1095,386/917,386/1065	147480080	2844,9430	1963	4174	6137	SO:0001583	missense	11005	exon13			GAGAACGATCCTA	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1156G>A	5.37:g.147480080G>A	ENSP00000256084:p.Asp386Asn	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	133	65	0.488722	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	660	0.3021978021978022	247	0.5020325203252033	59	0.16298342541436464	257	0.4493006993006993	97	0.1279683377308707	G	10.88	1.476580	0.26511	0.458482	0.12506	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	4.69	3.82	0.43975	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.189270	0.25349	N	0.031317	T	0.00012	0.0000	L	0.61387	1.9	0.51482	P	7.100000000004325E-5	P;P;P;B	0.40970	0.455;0.689;0.734;0.4	B;B;B;B	0.37780	0.125;0.167;0.258;0.12	T	0.38308	-0.9667	9	0.28530	T	0.3	-8.6523	9.1943	0.37217	0.0998:0.0:0.9002:0.0	rs2303064;rs17860503;rs52823786;rs59833491;rs2303064	367;386;386;386	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	N	386;386;367;386	ENSP00000381472:D386N;ENSP00000352936:D386N;ENSP00000421519:D367N;ENSP00000256084:D386N	ENSP00000256084:D386N	D	+	1	0	SPINK5	147460273	0.377000	0.25106	0.164000	0.22755	0.362000	0.29581	1.896000	0.39789	1.349000	0.45751	0.591000	0.81541	GAT	G|0.688;A|0.312	0.312	strong		0.493	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		A	147480080	G	A	147480080	3	1	22	1	0	0	0	0	1	0	0	0	15061	1058	37	1	1206	1	SPINK5	5	147480080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	194067	147480080	33435180	3268	8376										
SPINK14	408187	hgsc.bcm.edu	37	chr5	147553829	147553829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgagaaagtaaacttgagCtggtacaatggaacggtcaa	11	5	1	2	rs79779038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:147553829C>T	ENST00000356972.1	+	3	144	c.144C>T	c.(142-144)agC>agT	p.S48S	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	48	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						TAAACTTGAGCTGGTACAATG	0.413													T|||	536	0.107029	0.388	0.0303	5008	,	,		9611	0.001		0.001	False		,,,				2504	0.0				p.S48S		Atlas-SNP	.											.	SPINK14	9	.	0			c.C144T						PASS	.	T		841,2147		340,161,993	107	107	107		144	0.1	1	5	dbSNP_131	107	13,6231		1,11,3110	no	coding-synonymous	SPINK14	NM_001001325.1		341,172,4103	TT,TC,CC		0.2082,28.1459,9.2504		48/98	147553829	854,8378	1494	3122	4616	SO:0001819	synonymous_variant	408187	exon3			CTTGAGCTGGTAC		CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"Serine peptidase inhibitors, Kazal type"	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.144C>T	5.37:g.147553829C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_001001325		Silent	SNP	ENST00000356972.1	37	CCDS4288.1																																																																																			C|0.919;T|0.081	0.081	strong		0.413	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		T	147553829	C	T	147553829	2	4	22	1	0	0	0	0	0	0	0	1	15058	796	28	2		2	SPINK14	5	147553829	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73749	147553829	33361431	3269	8377										
HTR4	3360	hgsc.bcm.edu	37	chr5	147845463	147845463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctattgcagaagagcaggaGgaagctggagacaggggaac	16	6	1	3	rs73266449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:147845463G>A	ENST00000314512.6	-	7	1265	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	HTR4_ENST00000521735.1_Missense_Mutation_p.L368F|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AAGAGCAGGAGGAAGCTGGAG	0.433													G|||	200	0.0399361	0.1437	0.0144	5008	,	,		17221	0.0		0.0	False		,,,				2504	0.0				p.L368F	GBM(120;370 1604 14007 17804 41573)	Atlas-SNP	.											.	HTR4	161	.	0			c.C1102T						PASS	.	G	,PHE/LEU	459,3947	219.4+/-237.2	28,403,1772	150	163	158		,1102	-7.4	0.3	5	dbSNP_130	158	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	HTR4	NM_001040169.2,NM_199453.3	,22	28,406,6069	AA,AG,GG		0.0349,10.4176,3.5522	,	,368/379	147845463	462,12544	2203	4300	6503	SO:0001583	missense	3360	exon6			GCAGGAGGAAGCT	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1102C>T	5.37:g.147845463G>A	ENSP00000314906:p.Leu368Phe	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	255	118	0.462745	NM_199453	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000314512.6	37	CCDS34271.1	77	0.035256410256410256	72	0.14634146341463414	5	0.013812154696132596	0	0.0	0	0.0	G	9.178	1.022933	0.19433	0.104176	3.49E-4	ENSG00000164270	ENST00000314512;ENST00000521735	T;T	0.71817	-0.6;-0.6	5.06	-7.41	0.01392	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.31926	P	0.612866	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	7	0.09843	T	0.71	.	16.3003	0.82806	0.6695:0.0:0.3305:0.0	.	368	Q684M0	.	F	368	ENSP00000314906:L368F;ENSP00000430979:L368F	ENSP00000314906:L368F	L	-	1	0	HTR4	147825656	0.873000	0.30073	0.266000	0.24541	0.912000	0.54170	-0.283000	0.08433	-2.141000	0.00805	-2.010000	0.00438	CTC	G|0.967;A|0.033	0.033	strong		0.433	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	NM_000870		A	147845463	G	A	147845463	3	1	22	1	0	0	0	0	1	0	0	0	7449	1000	35	2	130	2	HTR4	5	147845463	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	291634	147845463	33069797	3270	8378										
ADRB2	154	hgsc.bcm.edu	37	chr5	148206440	148206440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcttgctggcacccaatGgaagccatgcgccggaccac	10	16	1	0	rs1042713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:148206440G>A	ENST00000305988.4	+	1	285	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	16			G -> R (common polymorphism; dbSNP:rs1042713). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3025863, ECO:0000269|PubMed:3033609, ECO:0000269|PubMed:3034889, ECO:0000269|PubMed:7706471, ECO:0000269|PubMed:7915137, ECO:0000269|PubMed:8383511, ECO:0000269|Ref.8}.		activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GGCACCCAATGGAAGCCATGC	0.672													G|||	2382	0.475639	0.5204	0.4568	5008	,	,		16385	0.5486		0.3857	False		,,,				2504	0.4458				p.G16R		Atlas-SNP	.											.	ADRB2	42	.	0			c.G46A	GRCh37	CM950016	ADRB2	M	rs1042713	PASS	.	G	ARG/GLY	2147,2259	581.2+/-385.3	538,1071,594	113	110	111	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	46	3.7	0.3	5	dbSNP_86	111	3249,5351	488.1+/-372.3	619,2011,1670	yes	missense	ADRB2	NM_000024.5	125	1157,3082,2264	AA,AG,GG		37.7791,48.729,41.4885	benign	16/414	148206440	5396,7610	2203	4300	6503	SO:0001583	missense	154	exon1			CCCAATGGAAGCC	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.46G>A	5.37:g.148206440G>A	ENSP00000305372:p.Gly16Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	109	57	0.522936	NM_000024	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	CCDS4292.1	1027	0.47023809523809523	259	0.5264227642276422	171	0.4723756906077348	307	0.5367132867132867	290	0.38258575197889183	G	7.133	0.580326	0.13686	0.48729	0.377791	ENSG00000169252	ENST00000305988	T	0.65732	-0.17	4.67	3.73	0.42828	.	0.865291	0.09840	N	0.748967	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.20261	0.043	B	0.20955	0.032	T	0.46373	-0.9196	9	0.19147	T	0.46	.	8.2137	0.31499	0.0839:0.0:0.7586:0.1575	rs1042713;rs3182174;rs3729940;rs17287432;rs17334179;rs17334242;rs17721693;rs17839749;rs17846639;rs17859732;rs52812686;rs56964295;rs1042713	16	P07550	ADRB2_HUMAN	R	16	ENSP00000305372:G16R	ENSP00000305372:G16R	G	+	1	0	ADRB2	148186633	0.003000	0.15002	0.258000	0.24420	0.308000	0.27856	1.131000	0.31406	2.583000	0.87209	0.655000	0.94253	GGA	G|0.576;A|0.424	0.424	strong		0.672	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		A	148206440	G	A	148206440	3	1	22	1	0	0	0	0	1	0	0	0	341	1349	47	2	48	2	ADRB2	5	148206440	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	360977	148206440	32708820	3271	8379										
PCYOX1L	78991	hgsc.bcm.edu	37	chr5	148747678	148747678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcagcaacttaacctttGcaggcttccacccgcccatt	7	16	0	0	rs35552800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:148747678G>A	ENST00000274569.4	+	6	1008	c.946G>A	c.(946-948)Gca>Aca	p.A316T	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.A226T	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	316			A -> T (in dbSNP:rs35552800).		prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAACCTTTGCAGGCTTCCA	0.572											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	177	0.0353435	0.121	0.0014	5008	,	,		18388	0.0		0.0119	False		,,,				2504	0.0041				p.A316T	Ovarian(62;1136 1477 27277 27495)	Atlas-SNP	.											.	PCYOX1L	32	.	0			c.G946A						PASS	.	G	THR/ALA	429,3977	209.5+/-230.2	26,377,1800	154	150	152		946	3.7	1	5	dbSNP_126	152	90,8510	50.6+/-110.7	0,90,4210	yes	missense	PCYOX1L	NM_024028.3	58	26,467,6010	AA,AG,GG		1.0465,9.7367,3.9905	benign	316/495	148747678	519,12487	2203	4300	6503	SO:0001583	missense	78991	exon6			ACCTTTGCAGGCT		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.946G>A	5.37:g.148747678G>A	ENSP00000274569:p.Ala316Thr	Somatic	144	0	0	1719	WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_024028	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	53	0.024267399267399268	42	0.08536585365853659	1	0.0027624309392265192	0	0.0	10	0.013192612137203167	G	3.849	-0.032166	0.07543	0.097367	0.010465	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14391	2.99;2.51	5.53	3.7	0.42460	Prenylcysteine lyase (1);	0.363998	0.31721	N	0.007174	T	0.00144	0.0004	N	0.00841	-1.15	0.18873	N	0.999984	B;B;B	0.12013	0.0;0.0;0.005	B;B;B	0.14578	0.002;0.002;0.011	T	0.42932	-0.9422	10	0.14252	T	0.57	-4.3953	10.8265	0.46635	0.0741:0.4234:0.5025:0.0	rs35552800;rs59241704	198;226;316	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	T	316;226	ENSP00000274569:A316T;ENSP00000428512:A226T	ENSP00000274569:A316T	A	+	1	0	PCYOX1L	148727871	0.013000	0.17824	1.000000	0.80357	0.211000	0.24417	0.795000	0.26972	1.286000	0.44565	0.561000	0.74099	GCA	G|0.965;A|0.035	0.035	strong		0.572	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		A	148747678	G	A	148747678	3	1	22	1	0	0	0	0	1	0	0	0	11609	1319	46	2	968	2	PCYOX1L	5	148747678	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	541238	148747678	32167582	3272	8380										
ARHGEF37	389337	hgsc.bcm.edu	37	chr5	149006640	149006640	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctcctcctctcccagcCgctccttccagggtctgaac	8	18	2	1	rs9324624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149006640C>T	ENST00000333677.6	+	11	1629	c.1466C>T	c.(1465-1467)cCg>cTg	p.P489L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	489			P -> L (in dbSNP:rs9324624). {ECO:0000269|PubMed:14702039}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CTCTCCCAGCCGCTCCTTCCA	0.557													C|||	1881	0.375599	0.4871	0.3617	5008	,	,		19217	0.1706		0.5109	False		,,,				2504	0.3067				p.P489L		Atlas-SNP	.											.	ARHGEF37	45	.	0			c.C1466T						PASS	.	C	LEU/PRO	1886,2224		449,988,618	91	99	96		1466	4.5	1	5	dbSNP_119	96	4076,4342		985,2106,1118	yes	missense-near-splice	ARHGEF37	NM_001001669.2	98	1434,3094,1736	TT,TC,CC		48.4201,45.8881,47.5894	probably-damaging	489/676	149006640	5962,6566	2055	4209	6264	SO:0001630	splice_region_variant	389337	exon11			CCCAGCCGCTCCT	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1465-1C>T	5.37:g.149006640C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	132	62	0.469697	NM_001001669	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	880	0.40293040293040294	264	0.5365853658536586	144	0.39779005524861877	90	0.15734265734265734	382	0.503957783641161	C	20.2	3.944542	0.73672	0.458881	0.484201	ENSG00000183111	ENST00000333677	T	0.56611	0.45	5.39	4.53	0.55603	.	0.353536	0.33670	N	0.004670	T	0.00012	0.0000	L	0.58101	1.795	0.20873	P	0.999832131	D	0.89917	1.0	D	0.69307	0.963	T	0.50180	-0.8858	9	0.54805	T	0.06	.	12.358	0.55186	0.0:0.9212:0.0:0.0788	rs9324624;rs52802137;rs57196632;rs9324624	489	A1IGU5	ARH37_HUMAN	L	489	ENSP00000328083:P489L	ENSP00000328083:P489L	P	+	2	0	ARHGEF37	148986833	1.000000	0.71417	0.983000	0.44433	0.956000	0.61745	5.321000	0.65846	1.281000	0.44480	-0.219000	0.12488	CCG	C|0.590;T|0.410	0.410	strong		0.557	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669	Missense_Mutation	T	149006640	C	T	149006640	5	4	22	1	0	0	0	0	0	0	1	0	906	666	23	1	1504	1	ARHGEF37	5	149006640	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	258962	149006640	31908620	3273	8381										
PPARGC1B	133522	hgsc.bcm.edu	37	chr5	149200008	149200008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcagggtggagggtccGgggaggagcaactctatgct	16	10	2	0	rs45518035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149200008G>A	ENST00000309241.5	+	2	123	c.91G>A	c.(91-93)Ggg>Agg	p.G31R	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G31R|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G6R|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G31R	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	31	Abolishes DNA transcriptional activity when missing.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGAGGGTCCGGGGAGGAGCA	0.572													G|||	41	0.0081869	0.0295	0.0029	5008	,	,		17247	0.0		0.0	False		,,,				2504	0.0				p.G31R		Atlas-SNP	.											.	PPARGC1B	74	.	0			c.G91A						PASS	.	G	ARG/GLY,ARG/GLY,ARG/GLY	96,4310	78.3+/-116.7	3,90,2110	83	90	88		91,16,91	5.8	0.9	5	dbSNP_127	88	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	125,125,125	3,92,6408	AA,AG,GG		0.0233,2.1788,0.7535	probably-damaging,probably-damaging,probably-damaging	31/985,6/960,31/1024	149200008	98,12908	2203	4300	6503	SO:0001583	missense	133522	exon2			GGGTCCGGGGAGG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.91G>A	5.37:g.149200008G>A	ENSP00000312649:p.Gly31Arg	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	45	28	0.622222	NM_133263	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	g	22.2	4.254416	0.80135	0.021788	2.33E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.16073	2.37;2.46;2.49;2.75	5.76	5.76	0.90799	.	0.096989	0.64402	D	0.000001	T	0.27594	0.0678	M	0.73217	2.22	0.50632	D	0.999885	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.987;0.999	P;P;P;P;D	0.67548	0.875;0.905;0.875;0.558;0.952	T	0.07888	-1.0749	10	0.87932	D	0	-33.0089	19.9678	0.97275	0.0:0.0:1.0:0.0	rs45518035	10;10;31;31;31	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	R	31;31;31;6	ENSP00000353638:G31R;ENSP00000377855:G31R;ENSP00000312649:G31R;ENSP00000384403:G6R	ENSP00000312649:G31R	G	+	1	0	PPARGC1B	149180201	1.000000	0.71417	0.930000	0.37139	0.301000	0.27625	7.339000	0.79282	2.724000	0.93272	0.651000	0.88453	GGG	G|0.994;A|0.006	0.006	strong		0.572	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149200008	G	A	149200008	3	1	22	1	0	0	0	0	1	0	0	0	12301	1116	39	1	104	1	PPARGC1B	5	149200008	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	193368	149200008	31715252	3274	8382										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149245754	149245754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtagacgaaggtgcaaacAaagtcaatgaagccgacttg	11	7	1	2	rs17110644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149245754A>G	ENST00000255266.5	-	20	2456	c.2337T>C	c.(2335-2337)ttT>ttC	p.F779F		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	779					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGGTGCAAACAAAGTCAATGA	0.458													A|||	274	0.0547125	0.1044	0.0865	5008	,	,		20697	0.005		0.0278	False		,,,				2504	0.044				p.F779F		Atlas-SNP	.											.	PDE6A	98	.	0			c.T2337C						PASS	.	A		404,4002	201.5+/-224.5	22,360,1821	161	147	152		2337	-6.7	0.4	5	dbSNP_123	152	318,8282	113.7+/-173.7	6,306,3988	no	coding-synonymous	PDE6A	NM_000440.2		28,666,5809	GG,GA,AA		3.6977,9.1693,5.5513		779/861	149245754	722,12284	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon20			GCAAACAAAGTCA		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2337T>C	5.37:g.149245754A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			A|0.946;G|0.054	0.054	strong		0.458	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			G	149245754	A	G	149245754	2	3	22	1	0	0	0	0	0	0	0	1	11645	127	5	2		2	PDE6A	5	149245754	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45746	149245754	31669506	3275	8383										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149323772	149323772	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagagtacctcctctgtGttggggacgttagcaatctt					rs2277926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149323772G>A	ENST00000255266.5	-	1	584	c.465C>T	c.(463-465)aaC>aaT	p.N155N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	155	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.N155N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CCTCCTCTGTGTTGGGGACGT	0.557													G|||	1247	0.249002	0.2761	0.2305	5008	,	,		17039	0.246		0.166	False		,,,				2504	0.3139				p.N155N		Atlas-SNP	.											PDE6A,NS,carcinoma,0,1	PDE6A	98	1	1	Substitution - coding silent(1)	stomach(1)	c.C465T						PASS	.	G		1052,3354	386.1+/-326.0	110,832,1261	151	129	136		465	4.5	1	5	dbSNP_100	136	1230,7370	247.2+/-275.4	103,1024,3173	no	coding-synonymous	PDE6A	NM_000440.2		213,1856,4434	AA,AG,GG		14.3023,23.8765,17.5457		155/861	149323772	2282,10724	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon1			CTCTGTGTTGGGG		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.465C>T	5.37:g.149323772G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	57	18	0.315789	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			G|0.807;A|0.193	0.193	strong		0.557	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149323772	G	A	149323772	2	1	22	1	0	0	0	0	0	0	0	1	11645	1368	48	2		2	PDE6A	5	149323772	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78018	149323772	31591488	3276	8384	156	2								
PDE6A	5145	hgsc.bcm.edu	37	chr5	149323781	149323781	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcctctgtgttggggacGttagcaatcttcttagagtg					rs149256612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149323781G>A	ENST00000255266.5	-	1	575	c.456C>T	c.(454-456)aaC>aaT	p.N152N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	152	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGTTGGGGACGTTAGCAATCT	0.562																																					p.N152N		Atlas-SNP	.											.	PDE6A	98	.	0			c.C456T						PASS	.	G		3,4403	6.2+/-15.9	0,3,2200	160	137	144		456	2.4	1	5	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous	PDE6A	NM_000440.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		152/861	149323781	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon1			GGGGACGTTAGCA		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.456C>T	5.37:g.149323781G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	66	24	0.363636	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			G|1.000;A|0.000	0.000	strong		0.562	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149323781	G	A	149323781	2	1	22	1	0	0	0	0	0	0	0	1	11645	1136	40	1		1	PDE6A	5	149323781	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9	149323781	31591479	3277	8385	156	2								
PDE6A	5145	hgsc.bcm.edu	37	chr5	149323906	149323906	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtggacattgaaaagccTggtggccagctctgcgatgc	13	10	1	1	rs2277925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149323906T>G	ENST00000255266.5	-	1	450	c.331A>C	c.(331-333)Agg>Cgg	p.R111R		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	111	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.R111R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TTGAAAAGCCTGGTGGCCAGC	0.562													G|||	1415	0.282548	0.3994	0.2363	5008	,	,		18477	0.246		0.167	False		,,,				2504	0.3139				p.R111R		Atlas-SNP	.											PDE6A,NS,carcinoma,0,1	PDE6A	98	1	1	Substitution - coding silent(1)	stomach(1)	c.A331C						PASS	.	G		1463,2943	680.2+/-403.8	237,989,977	82	82	82		331	2.2	0.9	5	dbSNP_100	82	1234,7366	761.9+/-407.6	102,1030,3168	no	coding-synonymous	PDE6A	NM_000440.2		339,2019,4145	GG,GT,TT		14.3488,33.2047,20.7366		111/861	149323906	2697,10309	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon1			AAAGCCTGGTGGC		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.331A>C	5.37:g.149323906T>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	117	62	0.529915	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			T|0.786;G|0.214	0.214	strong		0.562	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			G	149323906	T	G	149323906	2	3	22	1	0	0	0	0	0	0	0	1	11645	1579	55	5		5	PDE6A	5	149323906	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	125	149323906	31591354	3278	8386										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149324153	149324153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggagatgagcttggcccgGtagtggaggttgtagtactg	17	6	0	2	rs34230349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149324153G>A	ENST00000255266.5	-	1	203	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	28					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCTTGGCCCGGTAGTGGAGGT	0.572													G|||	84	0.0167732	0.0461	0.0058	5008	,	,		18582	0.0099		0.0	False		,,,				2504	0.0092				p.Y28Y		Atlas-SNP	.											.	PDE6A	98	.	0			c.C84T						PASS	.	G		199,4207	124.5+/-161.8	2,195,2006	48	43	45		84	2	1	5	dbSNP_126	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDE6A	NM_000440.2		2,196,6305	AA,AG,GG		0.0116,4.5166,1.5378		28/861	149324153	200,12806	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon1			GGCCCGGTAGTGG		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.84C>T	5.37:g.149324153G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			G|0.984;A|0.016	0.016	strong		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149324153	G	A	149324153	2	1	22	1	0	0	0	0	0	0	0	1	11645	1256	44	2		2	PDE6A	5	149324153	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	247	149324153	31591107	3279	8387										
TIGD6	81789	hgsc.bcm.edu	37	chr5	149374880	149374880	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttgatgtccacctcttcTtgatcctcactgctgttgag					rs397756704|rs3832324|rs201139146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149374880delT	ENST00000296736.3	-	2	1806	c.1032delA	c.(1030-1032)caafs	p.Q344fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.Q344fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	344	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCACCTCTTCTTGATCCTCAC	0.502													TT|TT|T|deletion	2598	0.51877	0.3616	0.4813	5008	,	,		23962	0.5853		0.6074	False		,,,				2504	0.5982				p.E345fs		Pindel,Atlas-Indel	.											.	TIGD6	29	.	0			c.1033delG						PASS	.			1735,2529		362,1011,759	98	51	67			2.2	0	5	dbSNP_130	135	5379,2875		1759,1861,507	yes	frameshift	TIGD6	NM_030953.3		2121,2872,1266	A1A1,A1R,RR		34.8316,40.6895,43.1698			149374880	7114,5404	2168	4015	6183	SO:0001589	frameshift_variant	81789	exon2			.	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1032delA	5.37:g.149374880delT	ENSP00000296736:p.Gln344fs	Somatic	226	.	.		WXS	Illumina HiSeq	Phase_I	276	73	0.264	NM_030953	B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	CCDS4301.1																																																																																			T|0.470;-|0.530	0.530	strong		0.502	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		-	149374880	T	-	149374880	7	5	22	1	0	1	0	1	0	0	0	0	15897	1606	56	0	537	0	TIGD6	5	149374880	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	50727	149374880	31540380	3280	8388										
TIGD6	81789	hgsc.bcm.edu	37	chr5	149375721	149375721	+	Frame_Shift_Del	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatccttttccgctggggtCccacggatgcctcccgcacc					rs33910807|rs575130996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149375721delC	ENST00000296736.3	-	2	965	c.191delG	c.(190-192)ggafs	p.G64fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.G64fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	64						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCTGGGGTCCCACGGATGC	0.433													CCC|CCC|CC|deletion	476	0.0950479	0.3449	0.0231	5008	,	,		21862	0.0		0.004	False		,,,				2504	0.0				p.G64fs		Pindel,Atlas-Indel	.											.	TIGD6	29	.	0			c.192delA						PASS	.			1204,3060		171,862,1099	71	98	89			-2.9	0.2	5	dbSNP_126	99	16,8222		2,12,4105	yes	frameshift	TIGD6	NM_030953.3		173,874,5204	A1A1,A1R,RR		0.1942,28.2364,9.7584			149375721	1220,11282	2188	4300	6488	SO:0001589	frameshift_variant	81789	exon2			.	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.191delG	5.37:g.149375721delC	ENSP00000296736:p.Gly64fs	Somatic	66	.	.		WXS	Illumina HiSeq	Phase_I	82	32	0.39	NM_030953	B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	CCDS4301.1																																																																																			C|0.913;-|0.087	0.087	strong		0.433	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		-	149375721	C	-	149375721	7	5	22	1	0	1	0	1	0	0	0	0	15897	855	30	0	1378	0	TIGD6	5	149375721	Frame_Shift_Del	DEL	C	TCGA-G8-6324-01A-11D-2210-10	841	149375721	31539539	3281	8389										
CSF1R	1436	hgsc.bcm.edu	37	chr5	149460544	149460544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgttgctcctggcttcacGaccagctcagggacactggg	12	14	2	0	rs41424646		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149460544G>A	ENST00000286301.3	-	3	384	c.93C>T	c.(91-93)gtC>gtT	p.V31V	CSF1R_ENST00000543093.1_Silent_p.V31V	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	31	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGGCTTCACGACCAGCTCAG	0.607																																					p.V31V		Atlas-SNP	.											CSF1R_ENST00000286301,caecum,carcinoma,-1,2	CSF1R	250	2	0			c.C93T						scavenged	.	G		6,4400	11.4+/-27.6	0,6,2197	98	69	78		93	-11.5	0.1	5	dbSNP_127	78	0,8600		0,0,4300	no	coding-synonymous	CSF1R	NM_005211.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		31/973	149460544	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1436	exon3			CTTCACGACCAGC	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.93C>T	5.37:g.149460544G>A		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	186	94	0.505376	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	CCDS4302.1																																																																																			T|0.000;G|0.999;A|0.001	0.001	strong		0.607	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		A	149460544	G	A	149460544	2	1	22	1	0	0	0	0	0	0	0	1	3932	1045	37	1		1	CSF1R	5	149460544	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84823	149460544	31454716	3282	8390										
PDGFRB	5159	hgsc.bcm.edu	37	chr5	149499672	149499672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccggagccatccacttTaaaggcaaaaaggtctgtag	9	11	2	0	rs246395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149499672T>C	ENST00000261799.4	-	19	3070	c.2601A>G	c.(2599-2601)ttA>ttG	p.L867L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|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)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.L867L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATCCACTTTAAAGGCAAAA	0.572			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								C|||	1184	0.236422	0.1528	0.2997	5008	,	,		21447	0.1538		0.2903	False		,,,				2504	0.3344				p.L867L		Atlas-SNP	.		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	PDGFRB,NS,carcinoma,0,1	PDGFRB	142	1	1	Substitution - coding silent(1)	stomach(1)	c.A2601G						PASS	.	C		822,3584	748.8+/-412.0	78,666,1459	84	76	79		2601	2.7	1	5	dbSNP_79	79	2833,5767	673.2+/-403.0	457,1919,1924	no	coding-synonymous	PDGFRB	NM_002609.3		535,2585,3383	CC,CT,TT		32.9419,18.6564,28.1024		867/1107	149499672	3655,9351	2203	4300	6503	SO:0001819	synonymous_variant	5159	exon19			CCACTTTAAAGGC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2601A>G	5.37:g.149499672T>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	54	37	0.685185	NM_002609	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																			T|0.745;C|0.255	0.255	strong		0.572	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		C	149499672	T	C	149499672	2	2	22	1	0	0	0	0	0	0	0	1	11662	1751	61	2		2	PDGFRB	5	149499672	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39128	149499672	31415588	3283	8391										
PDGFRB	5159	hgsc.bcm.edu	37	chr5	149509508	149509508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaactgttccccagcagcGtgggcggcagctcacgtgga	15	13	1	0	rs74943037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149509508G>A	ENST00000261799.4	-	10	1860	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	464	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|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)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.T464M(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCCAGCAGCGTGGGCGGCAG	0.612			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	138	0.0275559	0.0953	0.0115	5008	,	,		20674	0.001		0.003	False		,,,				2504	0.0				p.T464M		Atlas-SNP	.		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	PDGFRB,NS,carcinoma,0,1	PDGFRB	142	1	1	Substitution - Missense(1)	stomach(1)	c.C1391T						scavenged	.	G	MET/THR	393,4013	195.3+/-220.0	26,341,1836	102	74	84		1391	3.8	0.8	5	dbSNP_131	84	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PDGFRB	NM_002609.3	81	26,344,6133	AA,AG,GG		0.0349,8.9197,3.0447	probably-damaging	464/1107	149509508	396,12610	2203	4300	6503	SO:0001583	missense	5159	exon10			AGCAGCGTGGGCG	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1391C>T	5.37:g.149509508G>A	ENSP00000261799:p.Thr464Met	Somatic	100	1	0.01	1725	WXS	Illumina HiSeq	Phase_I	133	58	0.43609	NM_002609	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	56	0.02564102564102564	51	0.10365853658536585	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	6.709	0.499568	0.12762	0.089197	3.49E-4	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76316	-1.01	4.64	3.76	0.43208	.	0.276731	0.27821	N	0.017704	T	0.06462	0.0166	L	0.59436	1.845	0.27164	N	0.961099	P;B	0.45634	0.863;0.122	B;B	0.39531	0.302;0.022	T	0.04140	-1.0974	10	0.33940	T	0.23	.	12.9704	0.58510	0.0865:0.0:0.9135:0.0	.	464;464	A8KAM8;P09619	.;PGFRB_HUMAN	M	464;134	ENSP00000261799:T464M	ENSP00000261799:T464M	T	-	2	0	PDGFRB	149489701	0.297000	0.24408	0.838000	0.33150	0.007000	0.05969	0.467000	0.22035	0.583000	0.29574	-1.598000	0.00824	ACG	G|0.972;A|0.028	0.028	strong		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149509508	G	A	149509508	3	1	22	1	0	0	0	0	1	0	0	0	11662	1145	40	1	1985	1	PDGFRB	5	149509508	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9836	149509508	31405752	3284	8392										
CDX1	1044	hgsc.bcm.edu	37	chr5	149562398	149562398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacgcctggagctggagaaGgagtttcattacagccgtta	12	9	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149562398G>T	ENST00000231656.8	+	2	595	c.513G>T	c.(511-513)aaG>aaT	p.K171N		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	171					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGGAGAAGGAGTTTCATT	0.552																																					p.K171N		Atlas-SNP	.											.	CDX1	11	.	0			c.G513T						PASS	.						139	140	140					5																	149562398		2203	4300	6503	SO:0001583	missense	1044	exon2			GGAGAAGGAGTTT	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.513G>T	5.37:g.149562398G>T	ENSP00000231656:p.Lys171Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	160	71	0.44375	NM_001804	Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156375	0.78114	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.96491	-4.03	5.87	3.03	0.35002	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.110690	0.64402	D	0.000012	D	0.97170	0.9075	M	0.65677	2.01	0.80722	D	1	D	0.56287	0.975	D	0.67900	0.954	D	0.96399	0.9295	10	0.87932	D	0	-13.0587	11.532	0.50616	0.1832:0.0:0.8168:0.0	.	171	P47902	CDX1_HUMAN	N	171;60	ENSP00000231656:K171N	ENSP00000231656:K171N	K	+	3	2	CDX1	149542591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.447000	0.52936	0.342000	0.23796	-0.345000	0.07892	AAG	.	.	none		0.552	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		T	149562398	G	T	149562398	3	4	22	1	0	0	0	0	1	0	0	0	3182	991	35	4	519	4	CDX1	5	149562398	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52890	149562398	31352862	3285	8393										
ARSI	340075	hgsc.bcm.edu	37	chr5	149677818	149677818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaggggacgctgagggctGtggctggccaggatatggct	19	7	0	2	rs77943970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149677818G>A	ENST00000328668.7	-	2	1248	c.669C>T	c.(667-669)caC>caT	p.H223H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	223					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGAGGGCTGTGGCTGGCCA	0.627													G|||	122	0.024361	0.0257	0.0375	5008	,	,		19157	0.0		0.0577	False		,,,				2504	0.0041				p.H223H		Atlas-SNP	.											.	ARSI	65	.	0			c.C669T						PASS	.	G		117,4289	90.2+/-128.9	0,117,2086	52	54	53		669	1.5	1	5	dbSNP_132	53	362,8238	120.1+/-179.3	11,340,3949	no	coding-synonymous	ARSI	NM_001012301.2		11,457,6035	AA,AG,GG		4.2093,2.6555,3.6829		223/570	149677818	479,12527	2203	4300	6503	SO:0001819	synonymous_variant	340075	exon2			AGGGCTGTGGCTG	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.669C>T	5.37:g.149677818G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	87	48	0.551724	NM_001012301	A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	CCDS34275.1																																																																																			G|0.967;A|0.033	0.033	strong		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677818	G	A	149677818	2	1	22	1	0	0	0	0	0	0	0	1	994	1368	48	2		2	ARSI	5	149677818	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115420	149677818	31237442	3286	8394										
TCOF1	6949	hgsc.bcm.edu	37	chr5	149755340	149755340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctccagtcctgccaagggGccccctcagaaggcagggcc	12	17	1	1	rs7701163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149755340G>T	ENST00000504761.2	+	12	1761	c.1761G>T	c.(1759-1761)ggG>ggT	p.G587G	TCOF1_ENST00000394269.3_Silent_p.G587G|TCOF1_ENST00000451292.1_Silent_p.G587G|TCOF1_ENST00000445265.2_Silent_p.G510G|TCOF1_ENST00000513346.1_Silent_p.G587G|TCOF1_ENST00000323668.7_Silent_p.G510G|TCOF1_ENST00000439160.2_Silent_p.G587G|TCOF1_ENST00000377797.3_Silent_p.G587G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	587					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAAGGGGCCCCCTCAGA	0.612													G|||	363	0.072484	0.1415	0.0548	5008	,	,		18897	0.0228		0.0636	False		,,,				2504	0.0521				p.G587G		Atlas-SNP	.											.	TCOF1	154	.	0			c.G1761T						PASS	.	G	,,,,,	654,3752	271.9+/-270.5	48,558,1597	86	98	94		1530,1761,1761,1761,1530,1761	-9.9	0	5	dbSNP_116	94	658,7942	163.5+/-216.0	18,622,3660	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TCOF1	NM_000356.3,NM_001008657.2,NM_001135243.1,NM_001135244.1,NM_001135245.1,NM_001195141.1	,,,,,	66,1180,5257	TT,TG,GG		7.6512,14.8434,10.0877	,,,,,	510/1412,587/959,587/1489,587/1452,510/1413,587/1451	149755340	1312,11694	2203	4300	6503	SO:0001819	synonymous_variant	6949	exon12			CAAGGGGCCCCCT		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1761G>T	5.37:g.149755340G>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	CCDS54936.1																																																																																			G|0.910;T|0.090	0.090	strong		0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		T	149755340	G	T	149755340	2	4	22	1	0	0	0	0	0	0	0	1	15705	1190	42	4		4	TCOF1	5	149755340	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77522	149755340	31159920	3287	8395										
TCOF1	6949	hgsc.bcm.edu	37	chr5	149755845	149755845	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcttcaagcagtgaggaAtcagatagtgaggaagagaa	13	4	3	4	rs34796297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149755845A>G	ENST00000504761.2	+	13	2094	c.2094A>G	c.(2092-2094)gaA>gaG	p.E698E	TCOF1_ENST00000394269.3_Silent_p.E698E|TCOF1_ENST00000451292.1_Silent_p.E698E|TCOF1_ENST00000445265.2_Silent_p.E621E|TCOF1_ENST00000513346.1_Silent_p.E698E|TCOF1_ENST00000323668.7_Silent_p.E621E|TCOF1_ENST00000439160.2_Silent_p.E698E|TCOF1_ENST00000377797.3_Silent_p.E698E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	698					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGTGAGGAATCAGATAGTG	0.602													A|||	111	0.0221645	0.0787	0.0086	5008	,	,		18022	0.0		0.001	False		,,,				2504	0.0				p.E698E		Atlas-SNP	.											.	TCOF1	154	.	0			c.A2094G						PASS	.	A	,,,,,	268,4128		13,242,1943	119	142	134		1863,2094,2094,2094,1863,2094	1.1	0.3	5	dbSNP_126	134	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TCOF1	NM_000356.3,NM_001008657.2,NM_001135243.1,NM_001135244.1,NM_001135245.1,NM_001195141.1	,,,,,	13,242,6238	GG,GA,AA		0.0,6.0965,2.0638	,,,,,	621/1412,698/959,698/1489,698/1452,621/1413,698/1451	149755845	268,12718	2198	4295	6493	SO:0001819	synonymous_variant	6949	exon13			TGAGGAATCAGAT		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2094A>G	5.37:g.149755845A>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	23	0.425926	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	CCDS54936.1																																																																																			A|0.984;G|0.016	0.016	strong		0.602	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		G	149755845	A	G	149755845	2	3	22	1	0	0	0	0	0	0	0	1	15705	98	4	2		2	TCOF1	5	149755845	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	505	149755845	31159415	3288	8396										
TCOF1	6949	hgsc.bcm.edu	37	chr5	149759201	149759201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgggaagacagggccttCggctgcccaggcagggaagc	16	12	0	1	rs114689020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149759201C>T	ENST00000504761.2	+	17	2765	c.2765C>T	c.(2764-2766)tCg>tTg	p.S922L	TCOF1_ENST00000323668.7_Missense_Mutation_p.S845L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S922L|TCOF1_ENST00000451292.1_Missense_Mutation_p.S922L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S922L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S845L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S922L|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000513346.1_Missense_Mutation_p.S922L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	922					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGGGCCTTCGGCTGCCCAG	0.632													C|||	114	0.0227636	0.0787	0.0101	5008	,	,		19801	0.0		0.003	False		,,,				2504	0.0				p.S922L		Atlas-SNP	.											.	TCOF1	154	.	0			c.C2765T						PASS	.	C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	281,4125	157.4+/-190.3	14,253,1936	54	60	58		2534,2765,2765,2765,2534,2765	0.4	0	5	dbSNP_132	58	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense,missense,missense,missense	TCOF1	NM_000356.3,NM_001008657.2,NM_001135243.1,NM_001135244.1,NM_001135245.1,NM_001195141.1	145,145,145,145,145,145	14,264,6225	TT,TC,CC		0.1279,6.3777,2.2451	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	845/1412,922/959,922/1489,922/1452,845/1413,922/1451	149759201	292,12714	2203	4300	6503	SO:0001583	missense	6949	exon17			GGCCTTCGGCTGC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2765C>T	5.37:g.149759201C>T	ENSP00000421655:p.Ser922Leu	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	142	75	0.528169	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	43	0.019688644688644688	39	0.07926829268292683	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	13.10	2.136775	0.37728	0.063777	0.001279	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.74947	-0.01;-0.01;-0.01;-0.01;-0.02;-0.01;-0.89;-0.01;-0.87	5.63	0.389	0.16269	Treacher Collins syndrome, treacle (1);	1.572510	0.03797	N	0.263889	T	0.05823	0.0152	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001;0.001;0.001	T	0.25293	-1.0136	10	0.66056	D	0.02	1.7592	4.6859	0.12757	0.1423:0.5093:0.0:0.3484	.	431;922;845;922;922;845;922	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	L	922;922;845;845;922;922;922;922;922	ENSP00000400939:S922L;ENSP00000367028:S922L;ENSP00000409944:S845L;ENSP00000325223:S845L;ENSP00000406888:S922L;ENSP00000377811:S922L;ENSP00000390717:S922L;ENSP00000421655:S922L;ENSP00000427484:S922L	ENSP00000325223:S845L	S	+	2	0	TCOF1	149739394	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.568000	0.05909	0.103000	0.17682	-0.254000	0.11334	TCG	C|0.979;T|0.021	0.021	strong		0.632	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		T	149759201	C	T	149759201	3	4	22	1	0	0	0	0	1	0	0	0	15705	893	31	1	2831	1	TCOF1	5	149759201	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3356	149759201	31156059	3289	8397										
SYNPO	11346	hgsc.bcm.edu	37	chr5	149998128	149998128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcagcaggagtggggacGactctgcctgcagagtcacc	16	11	3	1	rs6579797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:149998128G>A	ENST00000394243.1	+	2	573	c.199G>A	c.(199-201)Gac>Aac	p.D67N	SYNPO_ENST00000522122.1_Missense_Mutation_p.D67N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	67					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTGGGGACGACTCTGCCTG	0.667													A|||	861	0.171925	0.2648	0.0461	5008	,	,		18209	0.2738		0.0149	False		,,,				2504	0.1922				p.D67N		Atlas-SNP	.											SYNPO_ENST00000394243,colon,carcinoma,0,1	SYNPO	147	1	0			c.G199A						PASS	.	A	ASN/ASP,ASN/ASP	325,1059		33,259,400	50	64	60		199,199	3.6	0.1	5	dbSNP_116	60	41,3141		0,41,1550	yes	missense,missense	SYNPO	NM_001166208.1,NM_001166209.1	23,23	33,300,1950	AA,AG,GG		1.2885,23.4827,8.0158	,	67/930,67/930	149998128	366,4200	692	1591	2283	SO:0001583	missense	11346	exon2			GGGGACGACTCTG	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.199G>A	5.37:g.149998128G>A	ENSP00000377789:p.Asp67Asn	Somatic	202	2	0.00990099		WXS	Illumina HiSeq	Phase_I	236	235	0.995763	NM_001166209	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	CCDS54937.1	312	0.14285714285714285	130	0.26422764227642276	14	0.03867403314917127	157	0.2744755244755245	11	0.014511873350923483	A	0.175	-1.067557	0.01934	0.234827	0.012885	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.22134	1.97;1.97	3.56	3.56	0.40772	.	1.605810	0.04156	N	0.322269	T	0.00012	0.0000	N	0.00926	-1.1	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39840	-0.9594	9	0.02654	T	1	-0.7622	5.5763	0.17225	0.8694:0.0:0.1306:0.0	rs6579797;rs6579797	67	Q8N3V7	SYNPO_HUMAN	N	67	ENSP00000377789:D67N;ENSP00000428378:D67N	ENSP00000377789:D67N	D	+	1	0	SYNPO	149978321	0.124000	0.22315	0.069000	0.20011	0.651000	0.38670	1.109000	0.31135	0.442000	0.26555	-0.521000	0.04368	GAC	G|0.850;A|0.150	0.150	strong		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		A	149998128	G	A	149998128	3	1	22	1	0	0	0	0	1	0	0	0	15453	1058	37	1	201	1	SYNPO	5	149998128	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	238927	149998128	30917132	3290	8398										
MYOZ3	91977	hgsc.bcm.edu	37	chr5	150056296	150056296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccatttggaggacccctCgtggggggcacttttcccag	14	12	0	0	rs57761602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150056296C>T	ENST00000520112.1	+	2	474	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	MYOZ3_ENST00000297130.4_Silent_p.L205L|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Silent_p.L205L					myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGACCCCTCGTGGGGGGCA	0.622													C|||	576	0.115016	0.3434	0.0202	5008	,	,		14340	0.0853		0.002	False		,,,				2504	0.0204				p.L205L		Atlas-SNP	.											MYOZ3,colon,carcinoma,0,1	MYOZ3	21	1	0			c.C615T						PASS	.	C	,	1240,3166	403.5+/-332.8	166,908,1129	61	72	68		615,615	-3.6	0	5	dbSNP_129	68	23,8577	16.6+/-54.9	0,23,4277	no	coding-synonymous,coding-synonymous	MYOZ3	NM_001122853.1,NM_133371.3	,	166,931,5406	TT,TC,CC		0.2674,28.1434,9.7109	,	205/252,205/252	150056296	1263,11743	2203	4300	6503	SO:0001583	missense	91977	exon7			ACCCCTCGTGGGG	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000520112.1:c.364C>T	5.37:g.150056296C>T	ENSP00000429439:p.Arg122Cys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_001122853		Silent	SNP	ENST00000520112.1	37		230	0.10531135531135531	169	0.3434959349593496	9	0.024861878453038673	52	0.09090909090909091	0	0.0	C	2.543	-0.305838	0.05458	0.281434	0.002674	ENSG00000164591	ENST00000520112	.	.	.	5.2	-3.63	0.04529	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33111	-0.9881	4	0.87932	D	0	-10.7574	2.871	0.05617	0.1018:0.218:0.4072:0.273	rs57761602;rs61745516	.	.	.	C	122	.	ENSP00000429439:R122C	R	+	1	0	MYOZ3	150036489	0.000000	0.05858	0.018000	0.16275	0.013000	0.08279	-0.196000	0.09532	-1.205000	0.02645	-0.136000	0.14681	CGT	C|0.902;T|0.098	0.098	strong		0.622	MYOZ3-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000374429.1	NM_001122853		T	150056296	C	T	150056296	3	4	22	1	0	0	0	0	1	0	0	0	10097	871	31	1	637	1	MYOZ3	5	150056296	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58168	150056296	30858964	3291	8399										
MYOZ3	91977	hgsc.bcm.edu	37	chr5	150056307	150056307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacccctcgtggggggcaCttttcccaggccaggcaccc	13	16	0	0	rs7737542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150056307C>A	ENST00000297130.4	+	7	825	c.626C>A	c.(625-627)aCt>aAt	p.T209N	MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000520112.1_Missense_Mutation_p.H125Q|MYOZ3_ENST00000517768.1_Missense_Mutation_p.T209N	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGGGGGCACTTTTCCCAGG	0.632													C|||	592	0.118211	0.3555	0.0202	5008	,	,		14089	0.0853		0.002	False		,,,				2504	0.0204				p.T209N		Atlas-SNP	.											MYOZ3,colon,carcinoma,0,1	MYOZ3	21	1	0			c.C626A						PASS	.	C	ASN/THR,ASN/THR	1280,3126	422.5+/-339.8	172,936,1095	62	74	70		626,626	4.3	0	5	dbSNP_116	70	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense	MYOZ3	NM_001122853.1,NM_133371.3	65,65	172,955,5376	AA,AC,CC		0.2209,29.0513,9.9877	possibly-damaging,possibly-damaging	209/252,209/252	150056307	1299,11707	2203	4300	6503	SO:0001583	missense	91977	exon7			GGGGCACTTTTCC	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.626C>A	5.37:g.150056307C>A	ENSP00000297130:p.Thr209Asn	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	73	32	0.438356	NM_001122853		Missense_Mutation	SNP	ENST00000297130.4	37	CCDS4309.1	238|238	0.10897435897435898|0.10897435897435898	177|177	0.3597560975609756|0.3597560975609756	9|9	0.024861878453038673|0.024861878453038673	52|52	0.09090909090909091|0.09090909090909091	0|0	0.0|0.0	C|C	7.508|7.508	0.654102|0.654102	0.14580|0.14580	0.290513|0.290513	0.002209|0.002209	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130	.|T;T	.|0.62639	.|0.01;0.01	5.2|5.2	4.33|4.33	0.51752|0.51752	.|.	.|0.966378	.|0.08546	.|N	.|0.929748	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	P|P	0.0|0.0	.|P	.|0.44380	.|0.834	.|P	.|0.46362	.|0.514	T|T	0.18808|0.18808	-1.0325|-1.0325	5|9	0.87932|0.27082	D|T	0|0.32	-5.2858|-5.2858	9.7635|9.7635	0.40545|0.40545	0.0:0.9042:0.0:0.0958|0.0:0.9042:0.0:0.0958	rs7737542;rs58997546;rs7737542|rs7737542;rs58997546;rs7737542	.|209	.|Q8TDC0	.|MYOZ3_HUMAN	Q|N	125|209	.|ENSP00000428815:T209N;ENSP00000297130:T209N	ENSP00000429439:H125Q|ENSP00000297130:T209N	H|T	+|+	3|2	2|0	MYOZ3|MYOZ3	150036500|150036500	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.003000|0.003000	0.03518|0.03518	0.613000|0.613000	0.24299|0.24299	1.195000|1.195000	0.43115|0.43115	-0.140000|-0.140000	0.14226|0.14226	CAC|ACT	C|0.887;A|0.113	0.113	strong		0.632	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		A	150056307	C	A	150056307	3	1	22	1	0	0	0	0	1	0	0	0	10097	565	20	4	648	4	MYOZ3	5	150056307	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11	150056307	30858953	3292	8400										
DCTN4	51164	hgsc.bcm.edu	37	chr5	150097883	150097883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtccccctcctcacactcGaagagagtcacatgggtgag	12	13	2	2	rs11954652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150097883G>C	ENST00000447998.2	-	11	1141	c.1026C>G	c.(1024-1026)ttC>ttG	p.F342L	DCTN4_ENST00000424236.1_Missense_Mutation_p.F285L|DCTN4_ENST00000446090.2_Missense_Mutation_p.F349L	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	342			F -> L (in dbSNP:rs11954652). {ECO:0000269|PubMed:14702039}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCACACTCGAAGAGAGTCA	0.522													C|||	1356	0.270767	0.6142	0.0893	5008	,	,		19789	0.2589		0.0606	False		,,,				2504	0.1636				p.F349L		Atlas-SNP	.											.	DCTN4	35	.	0			c.C1047G						PASS	.	C	LEU/PHE,LEU/PHE,LEU/PHE	2334,2072	568.8+/-382.5	638,1058,507	138	119	125		1026,855,1047	4.1	1	5	dbSNP_120	125	410,8190	801.0+/-407.4	6,398,3896	yes	missense,missense,missense	DCTN4	NM_016221.3,NM_001135644.1,NM_001135643.1	22,22,22	644,1456,4403	CC,CG,GG		4.7674,47.0268,21.098	benign,benign,benign	342/461,285/404,349/468	150097883	2744,10262	2203	4300	6503	SO:0001583	missense	51164	exon12			ACACTCGAAGAGA	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1026C>G	5.37:g.150097883G>C	ENSP00000416968:p.Phe342Leu	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_001135643	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	CCDS4310.1	509	0.23305860805860806	281	0.5711382113821138	37	0.10220994475138122	146	0.25524475524475526	45	0.059366754617414245	C	5.578	0.291418	0.10567	0.529732	0.047674	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.21734	1.99;1.99;1.99	5.83	4.05	0.47172	.	0.448446	0.25192	N	0.032456	T	0.00012	0.0000	N	0.00258	-1.755	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43426	-0.9392	9	0.06236	T	0.91	-1.0278	5.3363	0.15959	0.1213:0.636:0.1168:0.1258	rs11954652;rs11954652	349;342	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	L	342;285;349	ENSP00000416968:F342L;ENSP00000411251:F285L;ENSP00000414906:F349L	ENSP00000411251:F285L	F	-	3	2	DCTN4	150078076	0.994000	0.37717	0.970000	0.41538	0.976000	0.68499	0.443000	0.21644	0.487000	0.27698	-0.125000	0.14975	TTC	G|0.780;C|0.220	0.220	strong		0.522	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			C	150097883	G	C	150097883	3	2	22	1	0	0	0	0	1	0	0	0	4309	1049	37	4	368	4	DCTN4	5	150097883	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41576	150097883	30817377	3293	8401										
TNIP1	10318	hgsc.bcm.edu	37	chr5	150436503	150436503	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggttgccgtcctcacgggGcagggggcccagcgcctgga	17	14	1	0	rs2233290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150436503G>C	ENST00000389378.2	-	6	1039	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TNIP1_ENST00000521591.1_Missense_Mutation_p.P151A|TNIP1_ENST00000524280.1_Missense_Mutation_p.P151A|TNIP1_ENST00000520931.1_Missense_Mutation_p.P98A|TNIP1_ENST00000523200.1_Missense_Mutation_p.P151A|TNIP1_ENST00000523338.1_Missense_Mutation_p.P151A|TNIP1_ENST00000522226.1_Missense_Mutation_p.P151A|TNIP1_ENST00000315050.7_Missense_Mutation_p.P151A|TNIP1_ENST00000518977.1_Missense_Mutation_p.P151A	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	151	Interacts with Nef.		P -> A (in dbSNP:rs2233290).		defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.P151A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTCACGGGGCAGGGGGCCC	0.657													G|||	477	0.0952476	0.2133	0.0908	5008	,	,		18189	0.003		0.0825	False		,,,				2504	0.047				p.P151A		Atlas-SNP	.											TNIP1,NS,lymphoid_neoplasm,0,1	TNIP1	51	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C451G						PASS	.	G	ALA/PRO	793,3609		79,635,1487	21	23	22		451	4.1	0.9	5	dbSNP_98	22	759,7831		37,685,3573	yes	missense	TNIP1	NM_006058.3	27	116,1320,5060	CC,CG,GG		8.8359,18.0145,11.9458	probably-damaging	151/637	150436503	1552,11440	2201	4295	6496	SO:0001583	missense	10318	exon6			CACGGGGCAGGGG	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.451C>G	5.37:g.150436503G>C	ENSP00000374029:p.Pro151Ala	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_001252385	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	211	0.09661172161172162	110	0.22357723577235772	37	0.10220994475138122	1	0.0017482517482517483	63	0.08311345646437995	G	15.15	2.748460	0.49257	0.180145	0.088359	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.19806	2.34;2.4;2.4;2.4;2.4;2.4;2.4;2.43;2.43;2.12	5.03	4.14	0.48551	.	0.055087	0.85682	N	0.000000	T	0.00039	0.0001	M	0.77103	2.36	0.19575	P	0.9999685735	D;D;D;D;D;D	0.89917	0.978;1.0;0.978;0.978;0.999;0.999	P;D;P;P;D;D	0.85130	0.908;0.997;0.908;0.908;0.984;0.984	T	0.01436	-1.1355	9	0.39692	T	0.17	-16.4867	15.5862	0.76485	0.0:0.1385:0.8615:0.0	rs2233290	105;105;151;151;151;151	A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;TNIP1_HUMAN	A	98;151;151;151;108;108;113;151;151;151;151;151;108;98	ENSP00000429891:P98A;ENSP00000374029:P151A;ENSP00000317891:P151A;ENSP00000428243:P151A;ENSP00000428187:P151A;ENSP00000430760:P151A;ENSP00000430971:P151A;ENSP00000429912:P151A;ENSP00000431105:P151A;ENSP00000428487:P98A	ENSP00000317891:P151A	P	-	1	0	TNIP1	150416696	1.000000	0.71417	0.862000	0.33874	0.156000	0.22039	6.324000	0.72896	1.209000	0.43321	0.655000	0.94253	CCC	G|0.885;C|0.115	0.115	strong		0.657	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		C	150436503	G	C	150436503	3	2	22	1	0	0	0	0	1	0	0	0	16311	1203	42	4	1511	4	TNIP1	5	150436503	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	338620	150436503	30478757	3294	8402										
CCDC69	26112	hgsc.bcm.edu	37	chr5	150567017	150567017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgttcatatgaggcccggAggactgtagggaaaggagaa	15	7	1	2	rs386693598|rs61745454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150567017A>G	ENST00000355417.2	-	5	497	c.323T>C	c.(322-324)cTc>cCc	p.L108P	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	108										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGGCCCGGAGGACTGTAGG	0.557													A|||	161	0.0321486	0.0545	0.0216	5008	,	,		18674	0.0		0.0437	False		,,,				2504	0.0307				p.L108P		Atlas-SNP	.											.	CCDC69	30	.	0			c.T323C						PASS	.	A	PRO/LEU	224,4182	134.1+/-170.4	3,218,1982	76	77	77		323	2.3	0.8	5	dbSNP_129	77	322,8278	112.3+/-172.5	10,302,3988	yes	missense	CCDC69	NM_015621.2	98	13,520,5970	GG,GA,AA		3.7442,5.084,4.1981	benign	108/297	150567017	546,12460	2203	4300	6503	SO:0001583	missense	26112	exon5			GCCCGGAGGACTG		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.323T>C	5.37:g.150567017A>G	ENSP00000347586:p.Leu108Pro	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_015621	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	70	0.03205128205128205	30	0.06097560975609756	6	0.016574585635359115	0	0.0	34	0.044854881266490766	A	10.99	1.507812	0.27036	0.05084	0.037442	ENSG00000198624	ENST00000355417	T	0.10099	2.91	4.75	2.35	0.29111	.	0.380247	0.22617	N	0.057742	T	0.00998	0.0033	L	0.61218	1.895	0.58432	D	0.999996	B	0.32653	0.379	B	0.30029	0.11	T	0.20472	-1.0274	10	0.62326	D	0.03	-5.8364	3.7638	0.08615	0.7113:0.0:0.1003:0.1884	.	108	A6NI79	CCD69_HUMAN	P	108	ENSP00000347586:L108P	ENSP00000347586:L108P	L	-	2	0	CCDC69	150547210	1.000000	0.71417	0.811000	0.32455	0.993000	0.82548	1.738000	0.38207	0.325000	0.23359	0.454000	0.30748	CTC	A|0.960;G|0.040	0.040	strong		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		G	150567017	A	G	150567017	3	3	22	1	0	0	0	0	1	0	0	0	2841	304	11	3	587	3	CCDC69	5	150567017	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130514	150567017	30348243	3295	8403										
GM2A	2760	hgsc.bcm.edu	37	chr5	150632832	150632832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgggcttgcttctcgcgGcccctgcgcaagcccacctg	11	19	1	0	rs1048719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150632832G>A	ENST00000357164.3	+	1	380	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	19			A -> T (in dbSNP:rs1048719). {ECO:0000269|PubMed:10364519, ECO:0000269|PubMed:1427911, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1915857, ECO:0000269|PubMed:2753159}.		ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCTCGCGGCCCCTGCGCA	0.622													G|||	401	0.0800719	0.0174	0.0821	5008	,	,		14901	0.2014		0.0308	False		,,,				2504	0.089				p.A19T		Atlas-SNP	.											.	GM2A	24	.	0			c.G55A						PASS	.	G	THR/ALA,THR/ALA	104,4302	82.9+/-121.4	0,104,2099	55	56	55		55,55	0.3	0	5	dbSNP_86	55	253,8347	99.3+/-160.8	1,251,4048	yes	missense,missense	GM2A	NM_001167607.1,NM_000405.4	58,58	1,355,6147	AA,AG,GG		2.9419,2.3604,2.7449	benign,benign	19/187,19/194	150632832	357,12649	2203	4300	6503	SO:0001583	missense	2760	exon1			CTCGCGGCCCCTG		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.55G>A	5.37:g.150632832G>A	ENSP00000349687:p.Ala19Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	66	28	0.424242	NM_001167607	B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	ENST00000357164.3	37	CCDS4313.1	185	0.08470695970695971	14	0.028455284552845527	33	0.09116022099447514	112	0.1958041958041958	26	0.03430079155672823	G	12.21	1.870050	0.33069	0.023604	0.029419	ENSG00000196743	ENST00000357164	T	0.64618	-0.11	3.26	0.34	0.15985	.	1.885850	0.02210	N	0.063101	T	0.00039	0.0001	N	0.22421	0.69	0.80722	P	0.0	B;B	0.27932	0.194;0.017	B;B	0.23275	0.045;0.012	T	0.02491	-1.1151	9	0.25106	T	0.35	-26.2731	1.9241	0.03313	0.1195:0.2012:0.4727:0.2066	rs1048719;rs3188750;rs1048719	19;19	B4DQM5;P17900	.;SAP3_HUMAN	T	19	ENSP00000349687:A19T	ENSP00000349687:A19T	A	+	1	0	GM2A	150613025	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.105000	0.10907	0.055000	0.16094	0.462000	0.41574	GCC	G|0.952;A|0.048	0.048	strong		0.622	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		A	150632832	G	A	150632832	3	1	22	1	0	0	0	0	1	0	0	0	6484	1203	42	2	57	2	GM2A	5	150632832	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	65815	150632832	30282428	3296	8404										
SLC36A3	285641	hgsc.bcm.edu	37	chr5	150657130	150657130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagatgacgatctccaggaGggctgggatgatgagagcca	15	7	1	4	rs59596499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150657130G>T	ENST00000335230.3	-	10	1648	c.1237C>A	c.(1237-1239)Ctc>Atc	p.L413I	SLC36A3_ENST00000377713.3_Missense_Mutation_p.L454I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	413						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCCAGGAGGGCTGGGATG	0.547													G|||	622	0.124201	0.3139	0.0461	5008	,	,		18721	0.0863		0.005	False		,,,				2504	0.0849				p.L454I		Atlas-SNP	.											.	SLC36A3	54	.	0			c.C1360A						PASS	.	G	ILE/LEU,ILE/LEU	1043,3363	384.7+/-325.4	142,759,1302	88	79	82		1360,1237	-6	0	5	dbSNP_129	82	23,8577	16.6+/-54.9	1,21,4278	yes	missense,missense	SLC36A3	NM_001145017.1,NM_181774.3	5,5	143,780,5580	TT,TG,GG		0.2674,23.6723,8.1962	benign,benign	454/512,413/471	150657130	1066,11940	2203	4300	6503	SO:0001583	missense	285641	exon11			CCAGGAGGGCTGG	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1237C>A	5.37:g.150657130G>T	ENSP00000334750:p.Leu413Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	111	46	0.414414	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	234	0.10714285714285714	163	0.3313008130081301	19	0.052486187845303865	49	0.08566433566433566	3	0.00395778364116095	G	11.46	1.644841	0.29246	0.236723	0.002674	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02863	4.13;4.13	4.69	-6.03	0.02185	.	0.540122	0.18846	N	0.129540	T	0.00012	0.0000	L	0.52126	1.63	0.32793	P	0.500845	B;B;B	0.25563	0.029;0.129;0.058	B;B;B	0.37387	0.076;0.248;0.044	T	0.46652	-0.9176	9	0.28530	T	0.3	.	0.9335	0.01340	0.3023:0.0965:0.3066:0.2946	rs59596499	454;413;398	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	I	413;454	ENSP00000334750:L413I;ENSP00000366942:L454I	ENSP00000334750:L413I	L	-	1	0	SLC36A3	150637323	0.508000	0.26154	0.016000	0.15963	0.599000	0.36880	0.289000	0.18957	-1.471000	0.01886	-0.182000	0.12963	CTC	G|0.915;T|0.085	0.085	strong		0.547	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		T	150657130	G	T	150657130	3	4	22	1	0	0	0	0	1	0	0	0	14595	1000	35	4	179	4	SLC36A3	5	150657130	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24298	150657130	30258130	3297	8405										
SLC36A3	285641	hgsc.bcm.edu	37	chr5	150657173	150657173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgctgctgctcacggagccTaccagggagatgaccaagtc	13	13	1	2	rs56998614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150657173T>C	ENST00000335230.3	-	10	1605	c.1194A>G	c.(1192-1194)gtA>gtG	p.V398V	SLC36A3_ENST00000377713.3_Silent_p.V439V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	398						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACGGAGCCTACCAGGGAGA	0.537													C|||	638	0.127396	0.3245	0.049	5008	,	,		18658	0.0863		0.005	False		,,,				2504	0.0849				p.V439V		Atlas-SNP	.											.	SLC36A3	54	.	0			c.A1317G						PASS	.	C	,	1108,3298	718.1+/-408.8	157,794,1252	61	56	58		1317,1194	3.8	1	5	dbSNP_129	58	23,8577	818.2+/-406.9	1,21,4278	no	coding-synonymous,coding-synonymous	SLC36A3	NM_001145017.1,NM_181774.3	,	158,815,5530	CC,CT,TT		0.2674,25.1475,8.696	,	439/512,398/471	150657173	1131,11875	2203	4300	6503	SO:0001819	synonymous_variant	285641	exon11			GGAGCCTACCAGG	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1194A>G	5.37:g.150657173T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	CCDS4314.1																																																																																			T|0.911;C|0.089	0.089	strong		0.537	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		C	150657173	T	C	150657173	2	2	22	1	0	0	0	0	0	0	0	1	14595	1509	53	3		3	SLC36A3	5	150657173	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43	150657173	30258087	3298	8406										
SLC36A3	285641	hgsc.bcm.edu	37	chr5	150664183	150664183	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaatcttaccataccgacGccttcaaatgtgaagatggc	7	11	3	2	rs17111902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150664183G>C	ENST00000335230.3	-	7	1209	c.798C>G	c.(796-798)ggC>ggG	p.G266G	SLC36A3_ENST00000377713.3_Silent_p.G307G	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	266						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATACCGACGCCTTCAAATG	0.458													G|||	500	0.0998403	0.295	0.0403	5008	,	,		20976	0.0		0.0408	False		,,,				2504	0.0419				p.G307G		Atlas-SNP	.											.	SLC36A3	54	.	0			c.C921G						PASS	.	G	,	1178,3228	413.7+/-336.6	151,876,1176	107	97	101		921,798	-6.7	0	5	dbSNP_123	101	379,8221	123.8+/-182.6	4,371,3925	no	coding-synonymous,coding-synonymous	SLC36A3	NM_001145017.1,NM_181774.3	,	155,1247,5101	CC,CG,GG		4.407,26.7363,11.9714	,	307/512,266/471	150664183	1557,11449	2203	4300	6503	SO:0001819	synonymous_variant	285641	exon8			ACCGACGCCTTCA	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.798C>G	5.37:g.150664183G>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	126	59	0.468254	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	CCDS4314.1																																																																																			G|0.895;C|0.105	0.105	strong		0.458	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		C	150664183	G	C	150664183	2	2	22	1	0	0	0	0	0	0	0	1	14595	1074	38	4		4	SLC36A3	5	150664183	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7010	150664183	30251077	3299	8407										
SLC36A3	285641	hgsc.bcm.edu	37	chr5	150666843	150666843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatcagagccatgctcccAagggtggtgatgttggccaa	13	9	1	3	rs6579846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150666843A>G	ENST00000335230.3	-	6	1083	c.672T>C	c.(670-672)ctT>ctC	p.L224L	SLC36A3_ENST00000377713.3_Silent_p.L265L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	224						integral component of membrane (GO:0016021)		p.L224L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGCTCCCAAGGGTGGTGA	0.512													C|||	500	0.0998403	0.295	0.0403	5008	,	,		21417	0.0		0.0408	False		,,,				2504	0.0419				p.L265L		Atlas-SNP	.											SLC36A3,NS,carcinoma,0,1	SLC36A3	54	1	1	Substitution - coding silent(1)	stomach(1)	c.T795C						PASS	.	C	,	1542,2864		510,522,1171	122	113	116		795,672	2.1	1	5	dbSNP_116	116	415,8185		39,337,3924	no	coding-synonymous,coding-synonymous	SLC36A3	NM_001145017.1,NM_181774.3	,	549,859,5095	GG,GA,AA		4.8256,34.9977,15.0469	,	265/512,224/471	150666843	1957,11049	2203	4300	6503	SO:0001819	synonymous_variant	285641	exon7			GCTCCCAAGGGTG	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.672T>C	5.37:g.150666843A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	183	96	0.52459	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	CCDS4314.1																																																																																			A|0.800;C|0.190;G|0.010	0.010	strong		0.512	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		G	150666843	A	G	150666843	2	3	22	1	0	0	0	0	0	0	0	1	14595	117	5	2		2	SLC36A3	5	150666843	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2660	150666843	30248417	3300	8408										
SLC36A3	285641	hgsc.bcm.edu	37	chr5	150667016	150667016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggaggtcacgtgggcttTttccaccatctgacataaag	11	9	2	1	rs978012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150667016T>C	ENST00000335230.3	-	6	910	c.499A>G	c.(499-501)Aaa>Gaa	p.K167E	SLC36A3_ENST00000377713.3_Missense_Mutation_p.K208E	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	167			K -> E (in dbSNP:rs978012). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTGGGCTTTTTCCACCATC	0.458													C|||	2884	0.575879	0.7723	0.5749	5008	,	,		20597	0.5337		0.3996	False		,,,				2504	0.5358				p.K208E		Atlas-SNP	.											.	SLC36A3	54	.	0			c.A622G						PASS	.	C	GLU/LYS,GLU/LYS	3134,1272	431.4+/-342.9	1130,874,199	102	95	98		622,499	2.8	1	5	dbSNP_86	98	3277,5323	645.3+/-400.1	618,2041,1641	yes	missense,missense	SLC36A3	NM_001145017.1,NM_181774.3	56,56	1748,2915,1840	CC,CT,TT		38.1047,28.8697,49.2926	benign,benign	208/512,167/471	150667016	6411,6595	2203	4300	6503	SO:0001583	missense	285641	exon7			GGGCTTTTTCCAC	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.499A>G	5.37:g.150667016T>C	ENSP00000334750:p.Lys167Glu	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	1169	0.5352564102564102	395	0.8028455284552846	190	0.5248618784530387	283	0.49475524475524474	301	0.3970976253298153	C	10.86	1.471187	0.26423	0.711303	0.381047	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02216	4.39;4.39	4.56	2.76	0.32466	.	0.111229	0.64402	N	0.000015	T	0.00012	0.0000	N	0.00335	-1.625	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.04140	-1.0974	9	0.27082	T	0.32	.	10.6464	0.45623	0.0:0.7721:0.0:0.2279	rs978012;rs17729135;rs978012	208;167;152	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	E	167;208	ENSP00000334750:K167E;ENSP00000366942:K208E	ENSP00000334750:K167E	K	-	1	0	SLC36A3	150647209	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.917000	0.39996	0.665000	0.31066	-0.119000	0.15052	AAA	T|0.484;C|0.515	0.515	strong		0.458	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		C	150667016	T	C	150667016	3	2	22	1	0	0	0	0	1	0	0	0	14595	1850	64	2	933	2	SLC36A3	5	150667016	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173	150667016	30248244	3301	8409										
SLC36A2	153201	hgsc.bcm.edu	37	chr5	150696447	150696447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagcagctcgtccagggcCtggtaggtccccaccacaaa	11	14	0	1	rs369907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150696447C>T	ENST00000335244.4	-	10	1512	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	SLC36A2_ENST00000450886.1_Silent_p.Q185Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	461					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CGTCCAGGGCCTGGTAGGTCC	0.587													C|||	3373	0.673522	0.5862	0.683	5008	,	,		14122	0.8482		0.5348	False		,,,				2504	0.7474				p.Q461Q		Atlas-SNP	.											.	SLC36A2	71	.	0			c.G1383A						PASS	.	C		2613,1793	642.1+/-397.6	771,1071,361	71	71	71		1383	4	1	5	dbSNP_80	71	4538,4062	594.4+/-393.3	1186,2166,948	no	coding-synonymous	SLC36A2	NM_181776.2		1957,3237,1309	TT,TC,CC		47.2326,40.6945,45.0177		461/484	150696447	7151,5855	2203	4300	6503	SO:0001819	synonymous_variant	153201	exon10			CAGGGCCTGGTAG	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1383G>A	5.37:g.150696447C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_181776	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																			C|0.415;T|0.585	0.585	strong		0.587	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			T	150696447	C	T	150696447	2	4	22	1	0	0	0	0	0	0	0	1	14594	680	24	2		2	SLC36A2	5	150696447	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29431	150696447	30218813	3302	8410										
SLC36A2	153201	hgsc.bcm.edu	37	chr5	150696540	150696540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgccctctgagtagaaCgtggtgacctccaggagcgg	13	12	2	3	rs431240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150696540C>T	ENST00000335244.4	-	10	1419	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	SLC36A2_ENST00000450886.1_Silent_p.T154T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	430					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTGAGTAGAACGTGGTGACCT	0.647													C|||	3373	0.673522	0.5862	0.683	5008	,	,		15210	0.8482		0.5348	False		,,,				2504	0.7474				p.T430T		Atlas-SNP	.											.	SLC36A2	71	.	0			c.G1290A						PASS	.	C		2614,1792	641.9+/-397.6	771,1072,360	72	62	65		1290	2.1	1	5	dbSNP_80	65	4539,4061	593.9+/-393.2	1187,2165,948	no	coding-synonymous	SLC36A2	NM_181776.2		1958,3237,1308	TT,TC,CC		47.2209,40.6718,45.0023		430/484	150696540	7153,5853	2203	4300	6503	SO:0001819	synonymous_variant	153201	exon10			GTAGAACGTGGTG	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1290G>A	5.37:g.150696540C>T		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	167	167	1	NM_181776	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																			C|0.410;T|0.590	0.590	strong		0.647	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			T	150696540	C	T	150696540	2	4	22	1	0	0	0	0	0	0	0	1	14594	523	19	1		1	SLC36A2	5	150696540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93	150696540	30218720	3303	8411										
FAT2	2196	hgsc.bcm.edu	37	chr5	150946444	150946444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagcccaataaagtggagGatagtctttgtgaattgtgt	12	4	1	2	rs142348925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:150946444G>A	ENST00000261800.5	-	1	2061	c.2049C>T	c.(2047-2049)atC>atT	p.I683I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	683					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGTGGAGGATAGTCTTTG	0.408													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22771	0.0		0.0	False		,,,				2504	0.0				p.I683I		Atlas-SNP	.											.	FAT2	465	.	0			c.C2049T						PASS	.	G		6,4400	11.4+/-27.6	0,6,2197	117	110	112		2049	2.8	1	5	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous	FAT2	NM_001447.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		683/4350	150946444	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			GTGGAGGATAGTC	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2049C>T	5.37:g.150946444G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	220	98	0.445455	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			G|0.999;A|0.001	0.001	strong		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150946444	G	A	150946444	2	1	22	1	0	0	0	0	0	0	0	1	5690	1164	41	2		2	FAT2	5	150946444	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	249904	150946444	29968816	3304	8412										
SPARC	6678	hgsc.bcm.edu	37	chr5	151054227	151054227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtctcatcaggcagggcTtcttgctgctgttggaaaga	12	9	4	1	rs2304052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:151054227T>C	ENST00000231061.4	-	3	379	c.66A>G	c.(64-66)gaA>gaG	p.E22E	CTB-113P19.1_ENST00000518905.1_RNA|CTB-113P19.1_ENST00000510576.2_RNA	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	22	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CAGGCAGGGCTTCTTGCTGCT	0.557													T|||	990	0.197684	0.4743	0.1153	5008	,	,		20294	0.0675		0.0855	False		,,,				2504	0.1319				p.E22E		Atlas-SNP	.											.	SPARC	38	.	0			c.A66G						PASS	.	T		1855,2551	538.8+/-375.1	370,1115,718	186	165	173		66	1.1	1	5	dbSNP_100	173	628,7972	162.6+/-215.3	20,588,3692	no	coding-synonymous	SPARC	NM_003118.2		390,1703,4410	CC,CT,TT		7.3023,42.1017,19.0912		22/304	151054227	2483,10523	2203	4300	6503	SO:0001819	synonymous_variant	6678	exon3			CAGGGCTTCTTGC		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.66A>G	5.37:g.151054227T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_003118	D3DQH9|Q6IBK4	Silent	SNP	ENST00000231061.4	37	CCDS4318.1																																																																																			T|0.807;C|0.193	0.193	strong		0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		C	151054227	T	C	151054227	2	2	22	1	0	0	0	0	0	0	0	1	14994	1606	56	3		3	SPARC	5	151054227	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	107783	151054227	29861033	3305	8413										
GLRA1	2741	hgsc.bcm.edu	37	chr5	151231140	151231140	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgccgctccaggtggaaCcgggcctcaatgcaggtgaa	13	12	2	1	rs76872663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:151231140C>G	ENST00000455880.2	-	7	1009	c.723G>C	c.(721-723)cgG>cgC	p.R241R	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.R158R|GLRA1_ENST00000274576.4_Silent_p.R241R			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	241					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGGTGGAACCGGGCCTCAA	0.483													C|||	25	0.00499201	0.0189	0.0	5008	,	,		22610	0.0		0.0	False		,,,				2504	0.0				p.R241R		Atlas-SNP	.											GLRA1,NS,carcinoma,-2,1	GLRA1	61	1	0			c.G723C						PASS	.	C	,	68,4338	60.5+/-97.4	0,68,2135	92	89	90		723,723	-1	1	5	dbSNP_132	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	0,68,6435	GG,GC,CC		0.0,1.5433,0.5228	,	241/450,241/458	151231140	68,12938	2203	4300	6503	SO:0001819	synonymous_variant	2741	exon7			GTGGAACCGGGCC		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.723G>C	5.37:g.151231140C>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	145	76	0.524138	NM_000171	B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	CCDS54942.1																																																																																			C|0.994;G|0.006	0.006	strong		0.483	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			G	151231140	C	G	151231140	2	3	22	1	0	0	0	0	0	0	0	1	6454	494	18	4		4	GLRA1	5	151231140	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176913	151231140	29684120	3306	8414										
FAM114A2	10827	hgsc.bcm.edu	37	chr5	153382518	153382518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgatccattcgtgggcGgtatttcttgcctaaataag	9	9	1	1	rs34136150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:153382518G>A	ENST00000351797.4	-	10	1081	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	FAM114A2_ENST00000522858.1_Silent_p.T335T|FAM114A2_ENST00000520313.1_Silent_p.T265T|FAM114A2_ENST00000520667.1_Silent_p.T335T	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	335							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ATTCGTGGGCGGTATTTCTTG	0.393													G|||	466	0.0930511	0.1891	0.0764	5008	,	,		16772	0.0179		0.1143	False		,,,				2504	0.0307				p.T335T		Atlas-SNP	.											.	FAM114A2	51	.	0			c.C1005T						PASS	.	G		689,3717	292.1+/-281.9	61,567,1575	133	130	131		1005	-7.1	0.1	5	dbSNP_126	131	1048,7552	222.2+/-259.3	53,942,3305	no	coding-synonymous	FAM114A2	NM_018691.2		114,1509,4880	AA,AG,GG		12.186,15.6378,13.3554		335/506	153382518	1737,11269	2203	4300	6503	SO:0001819	synonymous_variant	10827	exon10			GTGGGCGGTATTT	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1005C>T	5.37:g.153382518G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_018691	B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	CCDS4323.1																																																																																			G|0.880;A|0.120	0.120	strong		0.393	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		A	153382518	G	A	153382518	2	1	22	1	0	0	0	0	0	0	0	1	5404	1103	39	1		1	FAM114A2	5	153382518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2151378	153382518	27532742	3307	8415										
GALNT10	55568	hgsc.bcm.edu	37	chr5	153783753	153783753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccctacaaggtcccggcCggagtcagcctggcccgggt	15	15	1	0	rs6580076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:153783753C>T	ENST00000297107.6	+	8	1283	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377657.3_Silent_p.A53A|GALNT10_ENST00000377661.2_Silent_p.A320A|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	382	Flexible loop.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A382A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGGTCCCGGCCGGAGTCAGCC	0.632													C|||	1429	0.285343	0.5083	0.1585	5008	,	,		19763	0.1637		0.1571	False		,,,				2504	0.3313				p.A382A		Atlas-SNP	.											GALNT10,NS,carcinoma,0,1	GALNT10	70	1	1	Substitution - coding silent(1)	stomach(1)	c.C1146T						PASS	.	C		1935,2471	545.4+/-376.8	432,1071,700	63	56	59		1146	-10.8	0.7	5	dbSNP_116	59	1471,7129	279.3+/-293.9	110,1251,2939	no	coding-synonymous	GALNT10	NM_198321.3		542,2322,3639	TT,TC,CC		17.1047,43.9174,26.1879		382/604	153783753	3406,9600	2203	4300	6503	SO:0001819	synonymous_variant	55568	exon8			CCCGGCCGGAGTC	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1146C>T	5.37:g.153783753C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	167	67	0.401198	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																			C|0.733;T|0.267	0.267	strong		0.632	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		T	153783753	C	T	153783753	2	4	22	1	0	0	0	0	0	0	0	1	6208	639	23	1		1	GALNT10	5	153783753	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	401235	153783753	27131507	3308	8416										
GALNT10	55568	hgsc.bcm.edu	37	chr5	153792453	153792453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctttccctttcagatccGaaatgtgggcacagggctgt	10	12	2	1	rs142635658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:153792453G>A	ENST00000297107.6	+	10	1528	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	GALNT10_ENST00000377657.3_Missense_Mutation_p.R137Q|GALNT10_ENST00000377661.2_Missense_Mutation_p.R402Q|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	464	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTTCAGATCCGAAATGTGGGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18983	0.0		0.0	False		,,,				2504	0.0				p.R464Q		Atlas-SNP	.											.	GALNT10	70	.	0			c.G1391A						PASS	.	G	GLN/ARG	41,4365	44.6+/-78.6	0,41,2162	85	84	85		1391	3.8	0.4	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	GALNT10	NM_198321.3	43	0,41,6462	AA,AG,GG		0.0,0.9305,0.3152	benign	464/604	153792453	41,12965	2203	4300	6503	SO:0001583	missense	55568	exon10			AGATCCGAAATGT	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1391G>A	5.37:g.153792453G>A	ENSP00000297107:p.Arg464Gln	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.24	1.879954	0.33162	0.009305	0.0	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.28666	1.6;1.6;1.6	5.56	3.77	0.43336	Ricin B-related lectin (1);Ricin B lectin (2);	0.091610	0.85682	D	0.000000	T	0.17492	0.0420	L	0.49256	1.55	0.48571	D	0.99967	B;B;B	0.31752	0.054;0.338;0.04	B;B;B	0.22152	0.013;0.038;0.005	T	0.02736	-1.1117	10	0.26408	T	0.33	.	10.6774	0.45794	0.2076:0.0:0.7924:0.0	.	402;135;464	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	Q	464;402;137	ENSP00000297107:R464Q;ENSP00000366889:R402Q;ENSP00000366885:R137Q	ENSP00000297107:R464Q	R	+	2	0	GALNT10	153772646	1.000000	0.71417	0.392000	0.26245	0.899000	0.52679	2.936000	0.48971	0.706000	0.31912	0.655000	0.94253	CGA	G|0.997;A|0.003	0.003	strong		0.612	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		A	153792453	G	A	153792453	3	1	22	1	0	0	0	0	1	0	0	0	6208	1058	37	1	1429	1	GALNT10	5	153792453	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8700	153792453	27122807	3309	8417										
GEMIN5	25929	hgsc.bcm.edu	37	chr5	154275786	154275786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcaccctctccacgaaagGcccttcggtgcccgtgttcc	9	17	2	0	rs6865950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:154275786G>A	ENST00000285873.7	-	24	3538	c.3463C>T	c.(3463-3465)Cct>Tct	p.P1155S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1155			P -> S (in dbSNP:rs6865950).		gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCACGAAAGGCCCTTCGGTG	0.532													G|||	600	0.119808	0.1778	0.196	5008	,	,		19517	0.0526		0.0895	False		,,,				2504	0.0879				p.P1155S		Atlas-SNP	.											.	GEMIN5	120	.	0			c.C3463T						PASS	.	G	SER/PRO	736,3670	303.8+/-288.1	65,606,1532	133	114	121		3463	1.3	0.7	5	dbSNP_116	121	640,7960	163.8+/-216.2	18,604,3678	yes	missense	GEMIN5	NM_015465.3	74	83,1210,5210	AA,AG,GG		7.4419,16.7045,10.5797	benign	1155/1509	154275786	1376,11630	2203	4300	6503	SO:0001583	missense	25929	exon24			CGAAAGGCCCTTC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3463C>T	5.37:g.154275786G>A	ENSP00000285873:p.Pro1155Ser	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	182	96	0.527473	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	245	0.11217948717948718	97	0.19715447154471544	55	0.15193370165745856	27	0.0472027972027972	66	0.0870712401055409	G	0.007	-1.991013	0.00439	0.167045	0.074419	ENSG00000082516	ENST00000285873	T	0.68903	-0.36	5.44	1.31	0.21738	.	0.530450	0.21762	N	0.069489	T	0.00039	0.0001	N	0.12182	0.205	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.04607	-1.0939	9	0.06891	T	0.86	-2.351	4.098	0.10000	0.2196:0.1119:0.5488:0.1197	rs6865950;rs6865950	1154;1155	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	S	1155	ENSP00000285873:P1155S	ENSP00000285873:P1155S	P	-	1	0	GEMIN5	154255979	0.015000	0.18098	0.674000	0.29902	0.174000	0.22865	0.229000	0.17833	0.616000	0.30141	0.462000	0.41574	CCT	G|0.891;A|0.109	0.109	strong		0.532	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			A	154275786	G	A	154275786	3	1	22	1	0	0	0	0	1	0	0	0	6331	1203	42	2	1083	2	GEMIN5	5	154275786	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	483333	154275786	26639474	3310	8418										
GEMIN5	25929	hgsc.bcm.edu	37	chr5	154282235	154282235	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattttctaagtgacctttTcctgtttgaaagagagataa	7	7	1	4	rs1421813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:154282235T>C	ENST00000285873.7	-	20	2805	c.2730A>G	c.(2728-2730)ggA>ggG	p.G910G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	910					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTGACCTTTTCCTGTTTGAA	0.418													T|||	634	0.126597	0.2012	0.1988	5008	,	,		22243	0.0536		0.0895	False		,,,				2504	0.0879				p.G910G		Atlas-SNP	.											.	GEMIN5	120	.	0			c.A2730G						PASS	.	T		810,3596	306.0+/-289.3	82,646,1475	150	146	147		2730	-3.4	1	5	dbSNP_88	147	627,7973	153.9+/-208.2	18,591,3691	yes	coding-synonymous-near-splice	GEMIN5	NM_015465.3		100,1237,5166	CC,CT,TT		7.2907,18.384,11.0487		910/1509	154282235	1437,11569	2203	4300	6503	SO:0001630	splice_region_variant	25929	exon20			ACCTTTTCCTGTT	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2729-1A>G	5.37:g.154282235T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	110	60	0.545455	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																			T|0.893;C|0.107	0.107	strong		0.418	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		Silent	C	154282235	T	C	154282235	5	2	22	1	0	0	0	0	0	0	1	0	6331	1797	62	2	1832	2	GEMIN5	5	154282235	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6449	154282235	26633025	3311	8419										
MRPL22	29093	hgsc.bcm.edu	37	chr5	154346259	154346259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttagctgagtccacctcAggacgaggccagtgcctgaa	12	11	1	2	rs14922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:154346259A>G	ENST00000523037.1	+	7	464	c.423A>G	c.(421-423)tcA>tcG	p.S141S	MRPL22_ENST00000522038.1_Silent_p.S147S|MRPL22_ENST00000439747.3_Silent_p.S167S|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000265229.8_Silent_p.S61S	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	141					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTCCACCTCAGGACGAGGCC	0.468													A|||	611	0.122005	0.0961	0.2219	5008	,	,		21141	0.0645		0.1252	False		,,,				2504	0.1421				p.S141S		Atlas-SNP	.											.	MRPL22	18	.	0			c.A423G						PASS	.	A	,	468,3938	221.0+/-238.3	24,420,1759	119	111	114		183,423	-2.7	0.9	5	dbSNP_52	114	1034,7566	219.1+/-257.3	49,936,3315	no	coding-synonymous,coding-synonymous	MRPL22	NM_001014990.2,NM_014180.3	,	73,1356,5074	GG,GA,AA		12.0233,10.6219,11.5485	,	61/127,141/207	154346259	1502,11504	2203	4300	6503	SO:0001819	synonymous_variant	29093	exon7			CACCTCAGGACGA	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.423A>G	5.37:g.154346259A>G		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_014180	A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Silent	SNP	ENST00000523037.1	37	CCDS4331.1																																																																																			T|0.168;G|0.092	0.092	strong		0.468	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			G	154346259	A	G	154346259	2	3	22	1	0	0	0	0	0	0	0	1	9788	175	7	3		3	MRPL22	5	154346259	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	64024	154346259	26569001	3312	8420										
SGCD	6444	hgsc.bcm.edu	37	chr5	155771579	155771579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatacaaggtggggatttaTggctggcggaaacgatgcct	15	6	0	0	rs1801193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:155771579T>C	ENST00000435422.3	+	2	568	c.81T>C	c.(79-81)taT>taC	p.Y27Y	SGCD_ENST00000337851.4_Silent_p.Y28Y|SGCD_ENST00000517913.1_Silent_p.Y28Y|SGCD_ENST00000447401.1_Silent_p.Y28Y	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	27					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGGATTTATGGCTGGCGGA	0.493													C|||	2431	0.485423	0.2436	0.464	5008	,	,		16931	0.7937		0.4473	False		,,,				2504	0.5491				p.Y28Y		Atlas-SNP	.											.	SGCD	52	.	0			c.T84C						PASS	.	C	,,	1034,2886		143,748,1069	110	118	116		84,81,84	-2	1	5	dbSNP_89	116	3575,4709		751,2073,1318	no	coding-synonymous,coding-synonymous,coding-synonymous	SGCD	NM_000337.5,NM_001128209.1,NM_172244.2	,,	894,2821,2387	CC,CT,TT		43.1555,26.3776,37.7663	,,	28/291,27/290,28/257	155771579	4609,7595	1960	4142	6102	SO:0001819	synonymous_variant	6444	exon3			GATTTATGGCTGG	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.81T>C	5.37:g.155771579T>C		Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	327	136	0.415902	NM_000337	A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	CCDS47327.1																																																																																			T|0.516;C|0.484	0.484	strong		0.493	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			C	155771579	T	C	155771579	2	2	22	1	0	0	0	0	0	0	0	1	14201	1471	51	2		2	SGCD	5	155771579	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1425320	155771579	25143681	3313	8421										
SGCD	6444	hgsc.bcm.edu	37	chr5	156184786	156184786	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccttcccataactggttGacctcggagttggatcctac	8	13	0	1	rs187204080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156184786G>A	ENST00000435422.3	+	7	1183				SGCD_ENST00000337851.4_Intron|SGCD_ENST00000517913.1_Silent_p.*257*|SGCD_ENST00000447401.1_Silent_p.*257*	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)						muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAACTGGTTGACCTCGGAGT	0.448													G|||	14	0.00279553	0.0106	0.0	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0				p.X257X		Atlas-SNP	.											.	SGCD	52	.	0			c.G770A						PASS	.	G	,,	33,3799		0,33,1883	64	63	63		,,770	0	0	5		63	0,8268		0,0,4134	no	intron,intron,coding-synonymous	SGCD	NM_000337.5,NM_001128209.1,NM_172244.2	,,	0,33,6017	AA,AG,GG		0.0,0.8612,0.2727	,,	,,257/257	156184786	33,12067	1916	4134	6050	SO:0001627	intron_variant	6444	exon8			CTGGTTGACCTCG	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.696+71G>A	5.37:g.156184786G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	217	98	0.451613	NM_172244	A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	CCDS47327.1																																																																																			G|0.998;A|0.002	0.002	strong		0.448	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			A	156184786	G	A	156184786	1	1	22	0	1	0	0	0	0	0	0	0	14201	1285	45	2		2	SGCD	5	156184786	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	413207	156184786	24730474	3314	8422										
HAVCR1	26762	hgsc.bcm.edu	37	chr5	156479583	156479583	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtcgtcattggaacagtCgttgtcgttggaacagtggt	13	7	1	0	rs192652646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156479583C>G	ENST00000339252.3	-	3	994	c.462G>C	c.(460-462)acG>acC	p.T154T	HAVCR1_ENST00000425854.1_Silent_p.T154T|HAVCR1_ENST00000522693.1_Silent_p.T154T|HAVCR1_ENST00000544197.1_Silent_p.T154T|HAVCR1_ENST00000523175.1_Silent_p.T154T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTTGTCGTTG	0.473																																					p.T154T		Atlas-SNP	.											HAVCR1,colon,carcinoma,-1,2	HAVCR1	84	2	0			c.G462C						scavenged	.						511	502	505					5																	156479583		2137	4231	6368	SO:0001819	synonymous_variant	26762	exon4			AACAGTCGTTGTC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.462G>C	5.37:g.156479583C>G		Somatic	421	0	0		WXS	Illumina HiSeq	Phase_I	457	5	0.0109409	NM_001099414	O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																			C|0.981;G|0.019	0.019	strong		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			G	156479583	C	G	156479583	2	3	22	1	0	0	0	0	0	0	0	1	6973	871	31	4		4	HAVCR1	5	156479583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	294797	156479583	24435677	3315	8423										
MED7	9443	hgsc.bcm.edu	37	chr5	156565839	156565839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaattttctctttgatgttCattctgtccagtacaattgt	6	7	3	2	rs151231455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156565839C>T	ENST00000286317.5	-	2	985	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MED7_ENST00000420343.1_Missense_Mutation_p.E202K	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	202					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTGATGTTCATTCTGTCCA	0.388													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.0				p.E202K		Atlas-SNP	.											.	MED7	18	.	0			c.G604A						PASS	.	C	LYS/GLU,LYS/GLU	127,4279	93.0+/-131.7	4,119,2080	178	165	170		604,604	4	1	5	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MED7	NM_001100816.1,NM_004270.4	56,56	4,120,6379	TT,TC,CC		0.0116,2.8824,0.9842	benign,benign	202/234,202/234	156565839	128,12878	2203	4300	6503	SO:0001583	missense	9443	exon2			GATGTTCATTCTG	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.604G>A	5.37:g.156565839C>T	ENSP00000286317:p.Glu202Lys	Somatic	348	1	0.00287356		WXS	Illumina HiSeq	Phase_I	319	149	0.467085	NM_001100816		Missense_Mutation	SNP	ENST00000286317.5	37	CCDS4334.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	8.966	0.971874	0.18736	0.028824	1.16E-4	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	4.04	0.47022	.	0.530450	0.21352	N	0.075941	T	0.19005	0.0456	N	0.25647	0.755	0.35254	D	0.778968	B	0.06786	0.001	B	0.04013	0.001	T	0.29397	-1.0013	9	0.18710	T	0.47	-16.0444	11.7459	0.51819	0.0:0.8027:0.1305:0.0668	.	202	O43513	MED7_HUMAN	K	202	.	ENSP00000286317:E202K	E	-	1	0	MED7	156498417	0.986000	0.35501	0.999000	0.59377	0.951000	0.60555	1.750000	0.38329	0.791000	0.33826	-0.137000	0.14449	GAA	C|0.991;T|0.009	0.009	strong		0.388	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		T	156565839	C	T	156565839	3	4	22	1	0	0	0	0	1	0	0	0	9452	835	29	2	101	2	MED7	5	156565839	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86256	156565839	24349421	3316	8424										
FAM71B	153745	hgsc.bcm.edu	37	chr5	156589937	156589937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgactttcacctgccttgcGgtgatgagaacttttcctac	9	11	1	3	rs115938677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156589937G>A	ENST00000302938.4	-	2	1434	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus (GO:0005634)		p.R447G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCCTTGCGGTGATGAGAA	0.498													G|||	32	0.00638978	0.0182	0.0014	5008	,	,		20598	0.0		0.0	False		,,,				2504	0.0072				p.R447C		Atlas-SNP	.											FAM71B,NS,carcinoma,0,1	FAM71B	145	1	1	Substitution - Missense(1)	lung(1)	c.C1339T						PASS	.	G	CYS/ARG	87,4319	72.5+/-110.5	2,83,2118	171	162	165		1339	3.8	0.6	5	dbSNP_132	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM71B	NM_130899.2	180	2,84,6417	AA,AG,GG		0.0116,1.9746,0.6766	probably-damaging	447/606	156589937	88,12918	2203	4300	6503	SO:0001583	missense	153745	exon2			CCTTGCGGTGATG		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1339C>T	5.37:g.156589937G>A	ENSP00000305596:p.Arg447Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	64	24	0.375	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	16.74	3.208131	0.58343	0.019746	1.16E-4	ENSG00000170613	ENST00000302938	T	0.19394	2.15	4.64	3.76	0.43208	.	1.354870	0.05270	N	0.517312	T	0.21387	0.0515	M	0.65498	2.005	0.37788	D	0.927243	D	0.69078	0.997	P	0.50490	0.642	T	0.08743	-1.0707	10	0.87932	D	0	-0.0752	10.7971	0.46466	0.0:0.0:0.8103:0.1897	.	447	Q8TC56	FA71B_HUMAN	C	447	ENSP00000305596:R447C	ENSP00000305596:R447C	R	-	1	0	FAM71B	156522515	0.960000	0.32886	0.566000	0.28421	0.204000	0.24138	1.831000	0.39141	1.241000	0.43820	0.655000	0.94253	CGC	G|0.995;A|0.005	0.005	strong		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156589937	G	A	156589937	3	1	22	1	0	0	0	0	1	0	0	0	5608	1116	39	1	482	1	FAM71B	5	156589937	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24098	156589937	24325323	3317	8425										
CYFIP2	26999	hgsc.bcm.edu	37	chr5	156742033	156742033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaacaaggactgtcctggCaccgcggaggaatatgagag	14	9	0	1	rs17054446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156742033C>T	ENST00000521420.1	+	12	1300	c.1209C>T	c.(1207-1209)ggC>ggT	p.G403G	CYFIP2_ENST00000435847.2_Silent_p.G103G|CYFIP2_ENST00000522463.1_Silent_p.G233G|CYFIP2_ENST00000377576.3_Silent_p.G429G|CYFIP2_ENST00000318218.6_Silent_p.G429G|CYFIP2_ENST00000347377.6_Silent_p.G429G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.G354G					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGTCCTGGCACCGCGGAGG	0.512													C|||	33	0.00658946	0.0234	0.0029	5008	,	,		19474	0.0		0.0	False		,,,				2504	0.0				p.G429G		Atlas-SNP	.											.	CYFIP2	354	.	0			c.C1287T						PASS	.	C	,,	65,4037		0,65,1986	64	64	64		1287,1287,1287	4.6	1	5	dbSNP_123	64	0,8400		0,0,4200	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,65,6186	TT,TC,CC		0.0,1.5846,0.5199	,,	429/1254,429/1254,429/1254	156742033	65,12437	2051	4200	6251	SO:0001819	synonymous_variant	26999	exon13			TCCTGGCACCGCG	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1209C>T	5.37:g.156742033C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	104	49	0.471154	NM_001037332		Silent	SNP	ENST00000521420.1	37																																																																																				C|0.993;T|0.007	0.007	strong		0.512	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		T	156742033	C	T	156742033	2	4	22	1	0	0	0	0	0	0	0	1	4138	697	25	2		2	CYFIP2	5	156742033	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152096	156742033	24173227	3318	8426										
C5orf40	408263	hgsc.bcm.edu	37	chr5	156770209	156770209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccatcagcacccaaagGgagatctgggggtctaccag	13	11	3	1	rs10214194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156770209G>A	ENST00000312349.4	-	2	523	c.336C>T	c.(334-336)tcC>tcT	p.S112S	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	112						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCACCCAAAGGGAGATCTGGG	0.587											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1367	0.272963	0.3911	0.1556	5008	,	,		20194	0.2986		0.171	False		,,,				2504	0.2751				p.S112S		Atlas-SNP	.											.	FNDC9	22	.	0			c.C336T						PASS	.	G	,,,	1515,2891	482.3+/-359.4	242,1031,930	74	76	75		336,,,	0.4	1	5	dbSNP_119	75	1391,7209	269.8+/-288.6	109,1173,3018	no	coding-synonymous,intron,intron,intron	CYFIP2,FNDC9	NM_001001343.3,NM_001037332.2,NM_001037333.1,NM_014376.2	,,,	351,2204,3948	AA,AG,GG		16.1744,34.3849,22.3435	,,,	112/225,,,	156770209	2906,10100	2203	4300	6503	SO:0001819	synonymous_variant	408263	exon2			CCAAAGGGAGATC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.336C>T	5.37:g.156770209G>A		Somatic	105	1	0.00952381	1781	WXS	Illumina HiSeq	Phase_I	145	144	0.993103	NM_001001343	A8K0Y6	Silent	SNP	ENST00000312349.4	37	CCDS4337.1																																																																																			G|0.764;A|0.236	0.236	strong		0.587	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		A	156770209	G	A	156770209	2	1	22	1	0	0	0	0	0	0	0	1	2299	1219	43	2		2	C5orf40	5	156770209	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28176	156770209	24145051	3319	8427										
NIPAL4	348938	hgsc.bcm.edu	37	chr5	156899925	156899925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatagaacttgccagcacctCatcaccagaagagaaaccca	6	13	2	3	rs61743233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156899925C>T	ENST00000311946.7	+	6	1474	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.S434L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	453						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCCAGCACCTCATCACCAGAA	0.478													C|||	470	0.0938498	0.1936	0.0576	5008	,	,		18624	0.003		0.0557	False		,,,				2504	0.1176				p.S453L		Atlas-SNP	.											.	NIPAL4	48	.	0			c.C1358T						PASS	.	C	LEU/SER,LEU/SER	638,3160		61,516,1322	49	48	48		1358,1301	5.5	0.5	5	dbSNP_129	48	445,7829		11,423,3703	yes	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	145,145	72,939,5025	TT,TC,CC		5.3783,16.7983,8.9712	benign,benign	453/467,434/448	156899925	1083,10989	1899	4137	6036	SO:0001583	missense	348938	exon6			GCACCTCATCACC	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1358C>T	5.37:g.156899925C>T	ENSP00000311687:p.Ser453Leu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	46	22	0.478261	NM_001099287	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	CCDS47328.1	177	0.08104395604395605	111	0.22560975609756098	25	0.06906077348066299	0	0.0	41	0.05408970976253298	C	10.45	1.353625	0.24512	0.167983	0.053783	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90732	-2.7;-2.72	5.48	5.48	0.80851	.	0.452549	0.27231	N	0.020319	T	0.00109	0.0003	N	0.08118	0	0.51482	P	7.199999999996098E-5	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.25572	-1.0128	9	0.11485	T	0.65	-7.6764	17.1975	0.86897	0.0:1.0:0.0:0.0	rs61743233	434;453	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	434;453	ENSP00000406456:S434L;ENSP00000311687:S453L	ENSP00000311687:S453L	S	+	2	0	NIPAL4	156832503	0.001000	0.12720	0.456000	0.27044	0.041000	0.13682	1.200000	0.32247	2.739000	0.93911	0.561000	0.74099	TCA	C|0.922;T|0.078	0.078	strong		0.478	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		T	156899925	C	T	156899925	3	4	22	1	0	0	0	0	1	0	0	0	10427	838	29	2	1380	2	NIPAL4	5	156899925	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129716	156899925	24015335	3320	8428										
ADAM19	8728	hgsc.bcm.edu	37	chr5	156936364	156936364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagcttgcgcctccaacTgagaaaggaccagagggtag	13	10	0	2	rs1422795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156936364T>C	ENST00000517905.1	-	9	894	c.850A>G	c.(850-852)Agt>Ggt	p.S284G	ADAM19_ENST00000257527.4_Missense_Mutation_p.S284G|ADAM19_ENST00000430702.2_Missense_Mutation_p.S17G|ADAM19_ENST00000394020.1_Missense_Mutation_p.S286G			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCCTCCAACTGAGAAAGGAC	0.483													T|||	2076	0.414537	0.6392	0.4438	5008	,	,		18036	0.126		0.3569	False		,,,				2504	0.4468				p.S284G		Atlas-SNP	.											.	ADAM19	216	.	0			c.A850G						PASS	.	T	GLY/SER	2552,1854	633.0+/-395.9	739,1074,390	101	96	98		850	1.3	0.5	5	dbSNP_88	98	3024,5576	465.5+/-366.5	521,1982,1797	yes	missense	ADAM19	NM_033274.3	56	1260,3056,2187	CC,CT,TT		35.1628,42.079,42.8725	possibly-damaging	284/919	156936364	5576,7430	2203	4300	6503	SO:0001583	missense	8728	exon9			TCCAACTGAGAAA	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.850A>G	5.37:g.156936364T>C	ENSP00000428654:p.Ser284Gly	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	112	48	0.428571	NM_033274	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		826	0.3782051282051282	315	0.6402439024390244	158	0.43646408839779005	82	0.14335664335664336	271	0.3575197889182058	T	13.02	2.112287	0.37242	0.57921	0.351628	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.39	1.33	0.21861	.	0.504141	0.21542	N	0.072867	T	0.00012	0.0000	L	0.42581	1.335	0.33665	P	0.38981600000000005	P;P	0.47545	0.897;0.682	B;B	0.39217	0.294;0.079	T	0.47018	-0.9149	9	0.33141	T	0.24	.	0.4223	0.00458	0.3419:0.1668:0.1317:0.3596	rs1422795;rs60215604;rs1422795	284;17	Q9H013-2;E9PD32	.;.	G	17;284;286;284	ENSP00000414088:S17G;ENSP00000257527:S284G;ENSP00000377588:S286G;ENSP00000428654:S284G	ENSP00000257527:S284G	S	-	1	0	ADAM19	156868942	0.000000	0.05858	0.470000	0.27216	0.961000	0.63080	0.027000	0.13621	0.411000	0.25702	0.533000	0.62120	AGT	T|0.592;C|0.408	0.408	strong		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		C	156936364	T	C	156936364	3	2	22	1	0	0	0	0	1	0	0	0	240	1580	55	3	1966	3	ADAM19	5	156936364	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36439	156936364	23978896	3321	8429										
ADAM19	8728	hgsc.bcm.edu	37	chr5	156964944	156964944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatttccgtgtggtggtttGagggttaccacttgaagtat	12	6	0	2	rs11134804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:156964944G>C	ENST00000517905.1	-	4	351	c.307C>G	c.(307-309)Caa>Gaa	p.Q103E	ADAM19_ENST00000257527.4_Missense_Mutation_p.Q103E|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q105E			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	103					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTTGAGGGTTACCA	0.443													G|||	136	0.0271565	0.0968	0.0086	5008	,	,		18034	0.0		0.0	False		,,,				2504	0.002				p.Q103E		Atlas-SNP	.											.	ADAM19	216	.	0			c.C307G						PASS	.	G	GLU/GLN	377,4029	191.9+/-217.4	13,351,1839	207	192	197		307	5.2	1	5	dbSNP_120	197	4,8596	3.0+/-9.4	0,4,4296	yes	missense	ADAM19	NM_033274.3	29	13,355,6135	CC,CG,GG		0.0465,8.5565,2.9294	benign	103/919	156964944	381,12625	2203	4300	6503	SO:0001583	missense	8728	exon4			TGGTTTGAGGGTT	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.307C>G	5.37:g.156964944G>C	ENSP00000428654:p.Gln103Glu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_033274	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		51	0.023351648351648352	47	0.09552845528455285	4	0.011049723756906077	0	0.0	0	0.0	G	14.59	2.579496	0.46006	0.085565	4.65E-4	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.05199	3.48;3.48;3.48	5.17	5.17	0.71159	.	0.462253	0.20288	N	0.095302	T	0.00241	0.0007	L	0.41906	1.305	0.80722	D	1	B	0.23249	0.082	B	0.24394	0.053	T	0.39941	-0.9589	10	0.72032	D	0.01	.	14.5834	0.68308	0.0:0.0:1.0:0.0	rs11134804;rs56446321;rs11134804	103	Q9H013-2	.	E	103;105;103	ENSP00000257527:Q103E;ENSP00000377588:Q105E;ENSP00000428654:Q103E	ENSP00000257527:Q103E	Q	-	1	0	ADAM19	156897522	1.000000	0.71417	0.979000	0.43373	0.883000	0.51084	3.257000	0.51500	2.584000	0.87258	0.563000	0.77884	CAA	G|0.965;C|0.035	0.035	strong		0.443	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		C	156964944	G	C	156964944	3	2	22	1	0	0	0	0	1	0	0	0	240	1299	45	4	2529	4	ADAM19	5	156964944	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28580	156964944	23950316	3322	8430										
SOX30	11063	hgsc.bcm.edu	37	chr5	157053365	157053365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattataaatccctgagcaCtttttcttcttcctcctcat	2	12	3	1	rs889057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:157053365C>T	ENST00000265007.6	-	5	2586	c.2245G>A	c.(2245-2247)Gtg>Atg	p.V749M	SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Missense_Mutation_p.V444M	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	749			V -> M (in dbSNP:rs889057).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTGAGCACTTTTTCTTCT	0.373													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17935	0.0		0.0	False		,,,				2504	0.0				p.V749M	Esophageal Squamous(31;525 799 19355 21125 41744)	Atlas-SNP	.											.	SOX30	67	.	0			c.G2245A						PASS	.	C	,MET/VAL	17,4389	11.4+/-27.6	0,17,2186	57	61	60		,2245	5.4	1	5	dbSNP_86	60	0,8600		0,0,4300	yes	utr-3,missense	SOX30	NM_007017.2,NM_178424.1	,21	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	,probably-damaging	,749/754	157053365	17,12989	2203	4300	6503	SO:0001583	missense	11063	exon5			TGAGCACTTTTTC	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.2245G>A	5.37:g.157053365C>T	ENSP00000265007:p.Val749Met	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	78	38	0.487179	NM_178424	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.31	3.357836	0.61403	0.003858	0.0	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98567	-4.82;-5.0	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000071	D	0.97676	0.9238	L	0.27053	0.805	0.37021	D	0.89618	D;D	0.76494	0.998;0.999	D;D	0.68765	0.915;0.96	D	0.99894	1.1141	10	0.87932	D	0	.	14.3095	0.66407	0.1478:0.8522:0.0:0.0	rs889057;rs52805214;rs889057	444;749	B4DXW7;O94993	.;SOX30_HUMAN	M	749;444	ENSP00000265007:V749M;ENSP00000427984:V444M	ENSP00000265007:V749M	V	-	1	0	SOX30	156985943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.502000	0.53332	2.712000	0.92718	0.650000	0.86243	GTG	C|0.998;T|0.002	0.002	strong		0.373	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		T	157053365	C	T	157053365	3	4	22	1	0	0	0	0	1	0	0	0	14952	565	20	2	20	2	SOX30	5	157053365	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88421	157053365	23861895	3323	8431										
SOX30	11063	hgsc.bcm.edu	37	chr5	157078475	157078475	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaccttctcggatggctgcCgggcttttgcctgccccgcc	11	17	1	0	rs3749797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:157078475C>G	ENST00000265007.6	-	1	953	c.612G>C	c.(610-612)ccG>ccC	p.P204P	SOX30_ENST00000311371.5_Silent_p.P204P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	204					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGGCTGCCGGGCTTTTGC	0.657													.|||	830	0.165735	0.2912	0.1326	5008	,	,		15560	0.0724		0.1571	False		,,,				2504	0.1247				p.P204P	Esophageal Squamous(31;525 799 19355 21125 41744)	Atlas-SNP	.											SOX30,NS,carcinoma,0,1	SOX30	67	1	0			c.G612C						PASS	.	C	,	1112,3290		124,864,1213	64	74	71		612,612	1.9	0	5	dbSNP_107	71	1095,7499		75,945,3277	no	coding-synonymous,coding-synonymous	SOX30	NM_007017.2,NM_178424.1	,	199,1809,4490	GG,GC,CC		12.7414,25.2612,16.9821	,	204/502,204/754	157078475	2207,10789	2201	4297	6498	SO:0001819	synonymous_variant	11063	exon1			GGCTGCCGGGCTT	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.612G>C	5.37:g.157078475C>G		Somatic	281	1	0.00355872		WXS	Illumina HiSeq	Phase_I	198	196	0.989899	NM_178424	O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	CCDS4339.1																																																																																			C|0.825;G|0.175	0.175	strong		0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		G	157078475	C	G	157078475	2	3	22	1	0	0	0	0	0	0	0	1	14952	639	23	4		4	SOX30	5	157078475	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25110	157078475	23836785	3324	8432										
EBF1	1879	hgsc.bcm.edu	37	chr5	158204425	158204425	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgtggttcttacctgtAtaaatgaatctgcctggtgt	11	7	2	1	rs1368298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:158204425A>G	ENST00000313708.6	-	10	1314	c.1032T>C	c.(1030-1032)taT>taC	p.Y344Y	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.Y336Y|EBF1_ENST00000380654.4_Silent_p.Y313Y	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	344	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y344Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTACCTGTATAAATGAATC	0.458			T	HMGA2	lipoma								G|||	2972	0.59345	0.854	0.6138	5008	,	,		19972	0.6151		0.4513	False		,,,				2504	0.3507				p.Y344Y		Atlas-SNP	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	EBF1,NS,carcinoma,0,1	EBF1	110	1	1	Substitution - coding silent(1)	prostate(1)	c.T1032C						PASS	.	G		3494,912	350.3+/-310.7	1407,680,116	157	143	148		1032	1.9	1	5	dbSNP_88	148	3828,4772	610.7+/-395.7	870,2088,1342	no	coding-synonymous	EBF1	NM_024007.3		2277,2768,1458	GG,GA,AA		44.5116,20.699,43.7029		344/592	158204425	7322,5684	2203	4300	6503	SO:0001819	synonymous_variant	1879	exon10			ACCTGTATAAATG	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1032T>C	5.37:g.158204425A>G		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	204	203	0.995098	NM_024007	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																			A|0.408;G|0.592	0.592	strong		0.458	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		G	158204425	A	G	158204425	2	3	22	1	0	0	0	0	0	0	0	1	4880	456	16	2		2	EBF1	5	158204425	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1125950	158204425	22710835	3325	8433										
RNF145	153830	hgsc.bcm.edu	37	chr5	158596032	158596032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccagtctgcactgccaGgattaacagcgttactcctt	8	14	1	0	rs61732785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:158596032G>A	ENST00000424310.2	-	8	1329	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	RNF145_ENST00000519865.1_Silent_p.L324L|RNF145_ENST00000521606.2_Silent_p.L341L|RNF145_ENST00000518802.1_Silent_p.L354L|RNF145_ENST00000520638.1_Silent_p.L338L|RNF145_ENST00000274542.2_Silent_p.L352L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCACTGCCAGGATTAACAGC	0.373													G|||	71	0.0141773	0.053	0.0014	5008	,	,		17610	0.0		0.0	False		,,,				2504	0.0				p.L354L		Atlas-SNP	.											RNF145,right_upper_lobe,carcinoma,+2,1	RNF145	110	1	0			c.C1060T						PASS	.	G	,,,,	200,4206	124.1+/-161.4	2,196,2005	116	119	118		1060,1021,1012,970,1054	4.2	1	5	dbSNP_129	118	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RNF145	NM_001199380.1,NM_001199381.1,NM_001199382.1,NM_001199383.1,NM_144726.2	,,,,	2,199,6302	AA,AG,GG		0.0349,4.5393,1.5608	,,,,	354/694,341/681,338/678,324/664,352/692	158596032	203,12803	2203	4300	6503	SO:0001819	synonymous_variant	153830	exon8			CTGCCAGGATTAA	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.970C>T	5.37:g.158596032G>A		Somatic	334	1	0.00299401		WXS	Illumina HiSeq	Phase_I	353	167	0.473088	NM_001199380	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																			G|0.985;A|0.015	0.015	strong		0.373	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		A	158596032	G	A	158596032	2	1	22	1	0	0	0	0	0	0	0	1	13447	991	35	2		2	RNF145	5	158596032	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	391607	158596032	22319228	3326	8434										
CCNJL	79616	hgsc.bcm.edu	37	chr5	159707731	159707731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagtgggctcggaaggtGggcagcttcagttcctggag	20	7	1	0	rs76732875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:159707731G>A	ENST00000393977.3	-	3	366	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CCNJL_ENST00000505287.2_Silent_p.P72P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.P27P|CCNJL_ENST00000519673.1_Silent_p.P27P|CCNJL_ENST00000541762.1_Silent_p.P26P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	27	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGGAAGGTGGGCAGCTTCA	0.672													G|||	255	0.0509185	0.1755	0.0303	5008	,	,		12548	0.0		0.002	False		,,,				2504	0.0				p.P27P		Atlas-SNP	.											.	CCNJL	36	.	0			c.C81T						PASS	.	G		625,3493		47,531,1481	20	27	25		81	-1	0.2	5	dbSNP_131	25	8,8342		0,8,4167	no	coding-synonymous	CCNJL	NM_024565.5		47,539,5648	AA,AG,GG		0.0958,15.1773,5.077		27/436	159707731	633,11835	2059	4175	6234	SO:0001819	synonymous_variant	79616	exon3			GAAGGTGGGCAGC	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.81C>T	5.37:g.159707731G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_024565	Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	CCDS4350.2																																																																																			G|0.959;A|0.041	0.041	strong		0.672	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		A	159707731	G	A	159707731	2	1	22	1	0	0	0	0	0	0	0	1	2929	1335	47	2		2	CCNJL	5	159707731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1111699	159707731	21207529	3327	8435										
ATP10B	23120	hgsc.bcm.edu	37	chr5	159992751	159992751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagatgacactgggtggtgAgttggtcgagccacttcggg	16	7	0	3	rs4921150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:159992751A>G	ENST00000327245.5	-	26	4941	c.4095T>C	c.(4093-4095)acT>acC	p.T1365T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1365					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGTGGTGAGTTGGTCGAG	0.532													G|||	719	0.14357	0.2935	0.1023	5008	,	,		14517	0.0119		0.0954	False		,,,				2504	0.1554				p.T1365T		Atlas-SNP	.											ATP10B,colon,carcinoma,0,1	ATP10B	201	1	0			c.T4095C						scavenged	.	G		935,2933		114,707,1113	103	114	111		4095	3.8	0	5	dbSNP_111	111	982,7304		62,858,3223	no	coding-synonymous	ATP10B	NM_025153.2		176,1565,4336	GG,GA,AA		11.8513,24.1727,15.7726		1365/1462	159992751	1917,10237	1934	4143	6077	SO:0001819	synonymous_variant	23120	exon26			GTGGTGAGTTGGT	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4095T>C	5.37:g.159992751A>G		Somatic	142	7	0.0492958		WXS	Illumina HiSeq	Phase_I	161	73	0.453416	NM_025153	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																			A|0.867;G|0.133	0.133	strong		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		G	159992751	A	G	159992751	2	3	22	1	0	0	0	0	0	0	0	1	1117	291	11	3		3	ATP10B	5	159992751	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	285020	159992751	20922509	3328	8436										
ATP10B	23120	hgsc.bcm.edu	37	chr5	160047491	160047491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagcccagggtgcagaggAggctgaaggtgaggcaggtg	19	7	0	3	rs375262733		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:160047491A>C	ENST00000327245.5	-	15	3125	c.2279T>G	c.(2278-2280)cTc>cGc	p.L760R	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	760					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCAGAGGAGGCTGAAGGT	0.597																																					p.L760R		Atlas-SNP	.											.	ATP10B	201	.	0			c.T2279G						PASS	.	A	ARG/LEU	1,4181		0,1,2090	38	40	39		2279	5.4	0.9	5		39	0,8452		0,0,4226	no	missense	ATP10B	NM_025153.2	102	0,1,6316	CC,CA,AA		0.0,0.0239,0.0079	probably-damaging	760/1462	160047491	1,12633	2091	4226	6317	SO:0001583	missense	23120	exon15			CAGAGGAGGCTGA	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2279T>G	5.37:g.160047491A>C	ENSP00000313600:p.Leu760Arg	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	241	100	0.414938	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448539	0.84101	2.39E-4	0.0	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.403835	0.25230	N	0.032170	T	0.82144	0.4973	L	0.49455	1.56	0.38198	D	0.940098	P;P	0.51933	0.949;0.949	P;P	0.57846	0.745;0.828	T	0.83105	-0.0126	9	.	.	.	.	14.5725	0.68220	1.0:0.0:0.0:0.0	.	368;760	Q2YDW8;O94823	.;AT10B_HUMAN	R	760;368	ENSP00000313600:L760R;ENSP00000431081:L368R	.	L	-	2	0	ATP10B	159980069	1.000000	0.71417	0.919000	0.36401	0.912000	0.54170	9.159000	0.94728	2.042000	0.60477	0.533000	0.62120	CTC	.	.	weak		0.597	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		C	160047491	A	C	160047491	3	2	22	1	0	0	0	0	1	0	0	0	1117	304	11	5	2154	5	ATP10B	5	160047491	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	54740	160047491	20867769	3329	8437										
GABRG2	2566	hgsc.bcm.edu	37	chr5	161528280	161528280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaattacaattgcacaaCtttccaatggatgaacactc	5	11	0	1	rs211037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:161528280C>T	ENST00000361925.4	+	5	808	c.588C>T	c.(586-588)aaC>aaT	p.N196N	GABRG2_ENST00000356592.3_Silent_p.N196N|GABRG2_ENST00000414552.2_Silent_p.N196N|GABRG2_ENST00000393933.4_Silent_p.N101N			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	196					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N196N(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATTGCACAACTTTCCAATGG	0.358													C|||	1861	0.371605	0.4682	0.2507	5008	,	,		17256	0.6012		0.2435	False		,,,				2504	0.2219				p.N196N		Atlas-SNP	.											GABRG2,NS,carcinoma,0,1	GABRG2	142	1	1	Substitution - coding silent(1)	stomach(1)	c.C588T						PASS	.	C	,,	1906,2500	545.1+/-376.7	413,1080,710	112	104	106		588,588,588	3.5	1	5	dbSNP_79	106	2088,6512	358.8+/-331.3	269,1550,2481	no	coding-synonymous,coding-synonymous,coding-synonymous	GABRG2	NM_000816.3,NM_198903.2,NM_198904.2	,,	682,2630,3191	TT,TC,CC		24.2791,43.2592,30.7089	,,	196/468,196/516,196/476	161528280	3994,9012	2203	4300	6503	SO:0001819	synonymous_variant	2566	exon5			GCACAACTTTCCA		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.588C>T	5.37:g.161528280C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																			C|0.648;T|0.352	0.352	strong		0.358	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161528280	C	T	161528280	2	4	22	1	0	0	0	0	0	0	0	1	6172	564	20	2		2	GABRG2	5	161528280	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1480789	161528280	19386980	3330	8438										
HMMR	3161	hgsc.bcm.edu	37	chr5	162902516	162902516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttttcaagaggaaatggTtaaagagaagaatctgtttg	10	3	3	3	rs299290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:162902516T>C	ENST00000358715.3	+	11	1139	c.1103T>C	c.(1102-1104)gTt>gCt	p.V368A	HMMR_ENST00000432118.2_Missense_Mutation_p.V282A|HMMR_ENST00000393915.4_Missense_Mutation_p.V369A|HMMR_ENST00000353866.3_Missense_Mutation_p.V353A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	368			V -> A (in dbSNP:rs299290). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.V368A(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAGGAAATGGTTAAAGAGAAG	0.368													T|||	1566	0.3127	0.2935	0.2608	5008	,	,		14152	0.4841		0.2604	False		,,,				2504	0.2526				p.V369A		Atlas-SNP	.											HMMR,NS,carcinoma,0,1	HMMR	64	1	1	Substitution - Missense(1)	stomach(1)	c.T1106C						PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	1323,3083	441.8+/-346.5	176,971,1056	78	81	80		1106,845,1103,1058	-3.3	0	5	dbSNP_79	80	2105,6495	361.6+/-332.4	269,1567,2464	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	64,64,64,64	445,2538,3520	CC,CT,TT		24.4767,30.0272,26.3571	benign,benign,benign,benign	369/726,282/639,368/725,353/710	162902516	3428,9578	2203	4300	6503	SO:0001583	missense	3161	exon11			AAATGGTTAAAGA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1103T>C	5.37:g.162902516T>C	ENSP00000351554:p.Val368Ala	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	99	45	0.454545	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	705	0.3228021978021978	128	0.2601626016260163	103	0.2845303867403315	269	0.47027972027972026	205	0.2704485488126649	T	1.315	-0.601048	0.03744	0.300272	0.244767	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	5.67	-3.29	0.05017	.	0.911338	0.09637	N	0.775460	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.20671	0.047;0.004;0.047;0.047	B;B;B;B	0.21360	0.034;0.006;0.021;0.021	T	0.43782	-0.9370	9	0.08837	T	0.75	0.4166	4.2691	0.10778	0.3275:0.3024:0.0:0.3701	rs299290;rs3172949;rs61170357;rs299290	282;369;353;368	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	A	254;353;369;345;282;368	ENSP00000400527:V254A;ENSP00000185942:V353A;ENSP00000377492:V369A;ENSP00000402673:V282A;ENSP00000351554:V368A	ENSP00000185942:V353A	V	+	2	0	HMMR	162835094	0.661000	0.27430	0.001000	0.08648	0.365000	0.29674	0.122000	0.15687	-0.460000	0.07003	-0.481000	0.04817	GTT	C|0.290;N|0.000	0.290	strong		0.368	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		C	162902516	T	C	162902516	3	2	22	1	0	0	0	0	1	0	0	0	7242	1725	60	2	1148	2	HMMR	5	162902516	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1374236	162902516	18012744	3331	8439										
HMMR	3161	hgsc.bcm.edu	37	chr5	162909716	162909716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatcattacaggaaaaagCggccaaggctgggaaaaatg	11	8	2	0	rs299295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:162909716C>T	ENST00000358715.3	+	13	1487	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	HMMR_ENST00000432118.2_Missense_Mutation_p.A398V|HMMR_ENST00000393915.4_Missense_Mutation_p.A485V|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.A469V			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	484			A -> V (in dbSNP:rs299295). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CAGGAAAAAGCGGCCAAGGCT	0.373													T|||	1080	0.215655	0.2905	0.1888	5008	,	,		17356	0.0724		0.2525	False		,,,				2504	0.2434				p.A485V		Atlas-SNP	.											.	HMMR	64	.	0			c.C1454T						PASS	.	T	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1278,3128	700.3+/-406.6	154,970,1079	74	76	75		1454,1193,1451,1406	4.3	0.6	5	dbSNP_79	75	2046,6554	719.4+/-406.3	257,1532,2511	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	64,64,64,64	411,2502,3590	TT,TC,CC		23.7907,29.0059,25.5574	benign,benign,benign,benign	485/726,398/639,484/725,469/710	162909716	3324,9682	2203	4300	6503	SO:0001583	missense	3161	exon13			AAAAAGCGGCCAA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1451C>T	5.37:g.162909716C>T	ENSP00000351554:p.Ala484Val	Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	369	177	0.479675	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	426	0.19505494505494506	128	0.2601626016260163	76	0.20994475138121546	29	0.050699300699300696	193	0.2546174142480211	T	0.015	-1.548218	0.00926	0.290059	0.237907	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	5.43	4.27	0.50696	.	0.709479	0.14135	N	0.339134	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	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	0.40403	-0.9565	9	0.02654	T	1	-5.128	8.1855	0.31337	0.0:0.1757:0.0:0.8243	rs299295;rs3172948;rs52793826;rs61629152;rs299295	398;485;469;484	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	V	370;469;485;461;398;484	ENSP00000400527:A370V;ENSP00000185942:A469V;ENSP00000377492:A485V;ENSP00000402673:A398V;ENSP00000351554:A484V	ENSP00000185942:A469V	A	+	2	0	HMMR	162842294	0.611000	0.26992	0.574000	0.28523	0.001000	0.01503	2.306000	0.43673	1.068000	0.40764	-0.269000	0.10298	GCG	C|0.774;N|0.000	.	strong		0.373	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		T	162909716	C	T	162909716	3	4	22	1	0	0	0	0	1	0	0	0	7242	768	27	1	1504	1	HMMR	5	162909716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7200	162909716	18005544	3332	8440										
HMMR	3161	hgsc.bcm.edu	37	chr5	162910136	162910136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaccaactcaagcaacAggaggaagactttagaaaac	9	9	1	3	rs112257004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:162910136A>G	ENST00000358715.3	+	14	1676	c.1640A>G	c.(1639-1641)cAg>cGg	p.Q547R	HMMR_ENST00000432118.2_Missense_Mutation_p.Q461R|HMMR_ENST00000393915.4_Missense_Mutation_p.Q548R|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.Q532R			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	547				Q -> R (in Ref. 3; BAF83266). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CTCAAGCAACAGGAGGAAGAC	0.358													A|||	46	0.0091853	0.0287	0.0115	5008	,	,		17094	0.0		0.0	False		,,,				2504	0.0				p.Q548R		Atlas-SNP	.											.	HMMR	64	.	0			c.A1643G						PASS	.	A	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	101,4305		1,99,2103	55	57	57		1643,1382,1640,1595	5.3	0.9	5	dbSNP_132	57	0,8594		0,0,4297	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	43,43,43,43	1,99,6400	GG,GA,AA		0.0,2.2923,0.7769	benign,benign,benign,benign	548/726,461/639,547/725,532/710	162910136	101,12899	2203	4297	6500	SO:0001583	missense	3161	exon14			AGCAACAGGAGGA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1640A>G	5.37:g.162910136A>G	ENSP00000351554:p.Gln547Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	128	53	0.414062	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	17	0.007783882783882784	12	0.024390243902439025	5	0.013812154696132596	0	0.0	0	0.0	A	13.18	2.159585	0.38119	0.022923	0.0	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.33	5.33	0.75918	.	0.292472	0.38326	N	0.001730	T	0.06050	0.0157	L	0.60455	1.87	0.27255	N	0.958781	B;P;P;P	0.36959	0.383;0.51;0.575;0.575	B;B;B;P	0.45232	0.165;0.273;0.394;0.474	T	0.12319	-1.0552	10	0.14656	T	0.56	-11.8252	9.8283	0.40925	0.8474:0.0:0.0:0.1526	.	461;548;532;547	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	R	433;532;548;524;461;547	ENSP00000400527:Q433R;ENSP00000185942:Q532R;ENSP00000377492:Q548R;ENSP00000402673:Q461R;ENSP00000351554:Q547R	ENSP00000185942:Q532R	Q	+	2	0	HMMR	162842714	0.998000	0.40836	0.903000	0.35520	0.684000	0.39900	2.194000	0.42668	2.234000	0.73211	0.533000	0.62120	CAG	A|0.990;G|0.010	0.010	strong		0.358	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		G	162910136	A	G	162910136	3	3	22	1	0	0	0	0	1	0	0	0	7242	188	7	3	1697	3	HMMR	5	162910136	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	420	162910136	18005124	3333	8441										
HMMR	3161	hgsc.bcm.edu	37	chr5	162910165	162910165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actttagaaaacagctggaaGatgaagaaggaaggtaatct	11	4	1	4	rs2230362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:162910165G>C	ENST00000358715.3	+	14	1705	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H	HMMR_ENST00000432118.2_Missense_Mutation_p.D471H|HMMR_ENST00000393915.4_Missense_Mutation_p.D558H|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.D542H			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	557			D -> H (in dbSNP:rs2230362).		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	ACAGCTGGAAGATGAAGAAGG	0.313													G|||	46	0.0091853	0.0287	0.0115	5008	,	,		17759	0.0		0.0	False		,,,				2504	0.0				p.D558H		Atlas-SNP	.											.	HMMR	64	.	0			c.G1672C						PASS	.	G	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	103,4303		1,101,2101	53	54	53		1672,1411,1669,1624	3.2	0.9	5	dbSNP_98	53	0,8598		0,0,4299	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	81,81,81,81	1,101,6400	CC,CG,GG		0.0,2.3377,0.7921	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	558/726,471/639,557/725,542/710	162910165	103,12901	2203	4299	6502	SO:0001583	missense	3161	exon14			CTGGAAGATGAAG	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1669G>C	5.37:g.162910165G>C	ENSP00000351554:p.Asp557His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	119	48	0.403361	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	17	0.007783882783882784	12	0.024390243902439025	5	0.013812154696132596	0	0.0	0	0.0	G	9.635	1.137453	0.21123	0.023377	0.0	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.03	3.24	0.37175	.	0.678925	0.15280	N	0.270748	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	P;P;P;P	0.44380	0.697;0.755;0.834;0.834	B;B;B;B	0.41036	0.332;0.346;0.319;0.319	T	0.36553	-0.9743	10	0.49607	T	0.09	-4.1167	11.5254	0.50576	0.1543:0.0:0.8457:0.0	rs2230362;rs2230362	471;558;542;557	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	H	443;542;558;534;471;557	ENSP00000400527:D443H;ENSP00000185942:D542H;ENSP00000377492:D558H;ENSP00000402673:D471H;ENSP00000351554:D557H	ENSP00000185942:D542H	D	+	1	0	HMMR	162842743	0.991000	0.36638	0.881000	0.34555	0.305000	0.27757	1.054000	0.30455	1.482000	0.48325	0.655000	0.94253	GAT	G|0.990;C|0.010	0.010	strong		0.313	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		C	162910165	G	C	162910165	3	2	22	1	0	0	0	0	1	0	0	0	7242	942	33	4	1726	4	HMMR	5	162910165	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29	162910165	18005095	3334	8442										
ODZ2	57451	hgsc.bcm.edu	37	chr5	167674370	167674370	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattatgacatcaaccagatCatcaccactgccgtgatgac	6	12	3	4	rs3733988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:167674370C>T	ENST00000518659.1	+	27	6465	c.6426C>T	c.(6424-6426)atC>atT	p.I2142I	TENM2_ENST00000403607.2_Silent_p.I1966I|TENM2_ENST00000545108.1_Silent_p.I2141I|TENM2_ENST00000519204.1_Silent_p.I2021I|TENM2_ENST00000520394.1_Silent_p.I1903I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2142					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I1975I(1)									TCAACCAGATCATCACCACTG	0.502													T|||	2181	0.435503	0.4418	0.4496	5008	,	,		22119	0.1726		0.5408	False		,,,				2504	0.5798				p.I2133I		Atlas-SNP	.											ODZ2,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.C6399T						PASS	.	T		1689,2371		343,1003,684	131	128	129		6399	4.7	1	5	dbSNP_107	129	4405,3949		1191,2023,963	no	coding-synonymous	ODZ2	NM_001122679.1		1534,3026,1647	TT,TC,CC		47.2708,41.601,49.0897		2133/2766	167674370	6094,6320	2030	4177	6207	SO:0001819	synonymous_variant	57451	exon27			CCAGATCATCACC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6426C>T	5.37:g.167674370C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				C|0.592;T|0.408	0.408	strong		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167674370	C	T	167674370	2	4	22	1	0	0	0	0	0	0	0	1	10835	816	29	2		2	ODZ2	5	167674370	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4764205	167674370	13240890	3335	8443										
ODZ2	57451	hgsc.bcm.edu	37	chr5	167674472	167674472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctcatgtactggatgacGgtgcaatatgacagcatggg	12	9	1	2	rs17070023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:167674472G>A	ENST00000518659.1	+	27	6567	c.6528G>A	c.(6526-6528)acG>acA	p.T2176T	TENM2_ENST00000545108.1_Silent_p.T2175T|TENM2_ENST00000403607.2_Silent_p.T2000T|TENM2_ENST00000519204.1_Silent_p.T2055T|TENM2_ENST00000520394.1_Silent_p.T1937T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2176					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACTGGATGACGGTGCAATATG	0.547													G|||	532	0.10623	0.1815	0.0634	5008	,	,		21125	0.004		0.0825	False		,,,				2504	0.1646				p.T2167T		Atlas-SNP	.											ODZ2_ENST00000519204,NS,carcinoma,+1,6	.	.	6	0			c.G6501A						PASS	.	G		616,3524		45,526,1499	108	103	105		6501	-11	0.2	5	dbSNP_123	105	764,7646		32,700,3473	no	coding-synonymous	ODZ2	NM_001122679.1		77,1226,4972	AA,AG,GG		9.0844,14.8792,10.996		2167/2766	167674472	1380,11170	2070	4205	6275	SO:0001819	synonymous_variant	57451	exon27			GATGACGGTGCAA	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6528G>A	5.37:g.167674472G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	125	70	0.56	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				G|0.910;A|0.090	0.090	strong		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167674472	G	A	167674472	2	1	22	1	0	0	0	0	0	0	0	1	10835	1103	39	1		1	ODZ2	5	167674472	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	102	167674472	13240788	3336	8444										
ODZ2	57451	hgsc.bcm.edu	37	chr5	167689296	167689296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcatctgtgctgaacaaCgcctactacctggacaagat	10	11	1	2	rs17632540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:167689296C>T	ENST00000518659.1	+	29	7845	c.7806C>T	c.(7804-7806)aaC>aaT	p.N2602N	TENM2_ENST00000403607.2_Silent_p.N2426N|TENM2_ENST00000545108.1_Silent_p.N2601N|TENM2_ENST00000519204.1_Silent_p.N2481N|TENM2_ENST00000520394.1_Silent_p.N2363N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2602					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGCTGAACAACGCCTACTACC	0.562													C|||	999	0.199481	0.1536	0.1556	5008	,	,		20212	0.002		0.3022	False		,,,				2504	0.3906				p.N2593N		Atlas-SNP	.											.	.	.	.	0			c.C7779T						PASS	.	C		684,3574		58,568,1503	43	48	47		7779	0.5	1	5	dbSNP_123	47	2524,5976		397,1730,2123	no	coding-synonymous	ODZ2	NM_001122679.1		455,2298,3626	TT,TC,CC		29.6941,16.0639,25.145		2593/2766	167689296	3208,9550	2129	4250	6379	SO:0001819	synonymous_variant	57451	exon29			GAACAACGCCTAC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7806C>T	5.37:g.167689296C>T		Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	173	173	1	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				C|0.820;T|0.180	0.180	strong		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167689296	C	T	167689296	2	4	22	1	0	0	0	0	0	0	0	1	10835	535	19	1		1	ODZ2	5	167689296	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14824	167689296	13225964	3337	8445										
SLIT3	6586	hgsc.bcm.edu	37	chr5	168098235	168098235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggtcccgggcctcctgAtcgcagagtgggccggtcca	16	14	0	2	rs2277933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:168098235A>G	ENST00000519560.1	-	34	4514	c.4095T>C	c.(4093-4095)gaT>gaC	p.D1365D	SLIT3_ENST00000332966.8_Silent_p.D1372D|SLIT3_ENST00000404867.3_Silent_p.D1365D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1365	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCTCCTGATCGCAGAGTG	0.687													G|||	1618	0.323083	0.4705	0.3934	5008	,	,		16999	0.3274		0.2435	False		,,,				2504	0.1513				p.D1372D	Ovarian(29;311 847 10864 17279 24903)	Atlas-SNP	.											.	SLIT3	224	.	0			c.T4116C						PASS	.	G		1943,2455		408,1127,664	24	25	24		4095	4.6	1	5	dbSNP_100	24	2006,6582		247,1512,2535	no	coding-synonymous	SLIT3	NM_003062.2		655,2639,3199	GG,GA,AA		23.3582,44.1792,30.4097		1365/1524	168098235	3949,9037	2199	4294	6493	SO:0001819	synonymous_variant	6586	exon34			CTCCTGATCGCAG	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4095T>C	5.37:g.168098235A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	85	26	0.305882	NM_001271946	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																			A|0.689;G|0.311	0.311	strong		0.687	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		G	168098235	A	G	168098235	2	3	22	1	0	0	0	0	0	0	0	1	14741	330	12	2		2	SLIT3	5	168098235	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	408939	168098235	12817025	3338	8446										
SLIT3	6586	hgsc.bcm.edu	37	chr5	168180081	168180081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtcattactcacacagcCgatcaagttactcctcagca	7	13	4	0	rs10036727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:168180081C>T	ENST00000519560.1	-	18	2271	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	SLIT3_ENST00000332966.8_Missense_Mutation_p.G618S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G618S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	618			G -> S (in dbSNP:rs10036727). {ECO:0000269|PubMed:12975309}.		apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCACACAGCCGATCAAGTTA	0.557													T|||	2859	0.570887	0.705	0.5072	5008	,	,		22384	0.5258		0.5258	False		,,,				2504	0.5276				p.G618S	Ovarian(29;311 847 10864 17279 24903)	Atlas-SNP	.											.	SLIT3	224	.	0			c.G1852A						PASS	.	T	SER/GLY	3059,1347	449.0+/-348.9	1069,921,213	111	79	90		1852	5.3	1	5	dbSNP_119	90	4411,4189	568.4+/-389.0	1155,2101,1044	yes	missense	SLIT3	NM_003062.2	56	2224,3022,1257	TT,TC,CC		48.7093,30.5719,42.565	benign	618/1524	168180081	7470,5536	2203	4300	6503	SO:0001583	missense	6586	exon18			CACAGCCGATCAA	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1852G>A	5.37:g.168180081C>T	ENSP00000430333:p.Gly618Ser	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	157	70	0.44586	NM_001271946	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	1229	0.5627289377289377	328	0.6666666666666666	185	0.511049723756906	325	0.5681818181818182	391	0.5158311345646438	T	10.40	1.339436	0.24339	0.694281	0.512907	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.56103	0.48;0.48;0.48	5.34	5.34	0.76211	.	0.157308	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00793	-1.18	0.47214	P	6.439999999999779E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.44159	-0.9346	9	0.02654	T	1	.	11.2503	0.49022	0.0:0.0718:0.0:0.9282	rs10036727;rs17634699;rs52808264;rs58822677;rs10036727	618	O75094	SLIT3_HUMAN	S	618	ENSP00000430333:G618S;ENSP00000332164:G618S;ENSP00000384890:G618S	ENSP00000332164:G618S	G	-	1	0	SLIT3	168112659	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.302000	0.72788	0.879000	0.35944	-0.254000	0.11334	GGC	C|0.423;N|0.000	.	strong		0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168180081	C	T	168180081	3	4	22	1	0	0	0	0	1	0	0	0	14741	652	23	1	2795	1	SLIT3	5	168180081	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81846	168180081	12735179	3339	8447										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169111345	169111345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacgaccccaacaagcaaaCggtcataaggtaggtgtgtc	10	11	1	0	rs78243868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:169111345C>T	ENST00000256935.8	+	8	832	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	251					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAAGCAAACGGTCATAAGG	0.488													C|||	51	0.0101837	0.0174	0.0072	5008	,	,		20396	0.0		0.0089	False		,,,				2504	0.0143				p.T251M		Atlas-SNP	.											.	DOCK2	389	.	0			c.C752T						PASS	.	C	MET/THR	103,4303	81.9+/-120.4	1,101,2101	161	145	150		752	-8.5	0	5	dbSNP_132	150	73,8527	43.6+/-101.6	0,73,4227	yes	missense	DOCK2	NM_004946.2	81	1,174,6328	TT,TC,CC		0.8488,2.3377,1.3532	benign	251/1831	169111345	176,12830	2203	4300	6503	SO:0001583	missense	1794	exon8			AGCAAACGGTCAT	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.752C>T	5.37:g.169111345C>T	ENSP00000256935:p.Thr251Met	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	48	0.40678	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	18	0.008241758241758242	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	C	10.10	1.258109	0.23051	0.023377	0.008488	ENSG00000134516	ENST00000256935	T	0.41758	0.99	5.43	-8.5	0.00927	.	0.745442	0.13119	N	0.412363	T	0.20007	0.0481	L	0.51422	1.61	0.48135	D	0.999598	B	0.12013	0.005	B	0.04013	0.001	T	0.04153	-1.0973	10	0.48119	T	0.1	.	19.7031	0.96063	0.0:0.725:0.0:0.275	.	251	Q92608	DOCK2_HUMAN	M	251	ENSP00000256935:T251M	ENSP00000256935:T251M	T	+	2	0	DOCK2	169043923	0.000000	0.05858	0.034000	0.17996	0.915000	0.54546	-1.014000	0.03641	-1.577000	0.01650	-0.768000	0.03414	ACG	C|0.987;T|0.013	0.013	strong		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169111345	C	T	169111345	3	4	22	1	0	0	0	0	1	0	0	0	4687	536	19	1	782	1	DOCK2	5	169111345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	931264	169111345	11803915	3340	8448										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169116304	169116304	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcttccctaaggagatTgagatgctcaacaatctgaa	11	9	2	3	rs189140579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:169116304T>A	ENST00000256935.8	+	9	890	c.810T>A	c.(808-810)atT>atA	p.I270I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	270					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTAAGGAGATTGAGATGCTCA	0.537																																					p.I270I		Atlas-SNP	.											DOCK2,caecum,carcinoma,+2,1	DOCK2	389	1	0			c.T810A						PASS	.						147	125	133					5																	169116304		2203	4300	6503	SO:0001819	synonymous_variant	1794	exon9			GGAGATTGAGATG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.810T>A	5.37:g.169116304T>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	155	70	0.451613	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			T|1.000;C|0.000	.	alt		0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169116304	T	A	169116304	2	1	22	1	0	0	0	0	0	0	0	1	4687	1800	63	5		5	DOCK2	5	169116304	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4959	169116304	11798956	3341	8449										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169469088	169469088	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagacacaccggcagctGaaggagacgctctacgagac	11	15	1	4	rs6555882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:169469088G>C	ENST00000256935.8	+	38	3908	c.3828G>C	c.(3826-3828)ctG>ctC	p.L1276L	DOCK2_ENST00000520908.1_Silent_p.L768L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L337L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1276	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGGCAGCTGAAGGAGACGC	0.577													C|||	461	0.0920527	0.2837	0.0317	5008	,	,		19097	0.0		0.0189	False		,,,				2504	0.046				p.L1276L		Atlas-SNP	.											.	DOCK2	389	.	0			c.G3828C						PASS	.	C		1166,3240	713.1+/-408.2	139,888,1176	61	54	57		3828	3.4	1	5	dbSNP_116	57	164,8436	811.3+/-407.1	3,158,4139	no	coding-synonymous	DOCK2	NM_004946.2		142,1046,5315	CC,CG,GG		1.907,26.4639,10.226		1276/1831	169469088	1330,11676	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon38			GCAGCTGAAGGAG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3828G>C	5.37:g.169469088G>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	242	242	1	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			G|0.867;C|0.133	0.133	strong		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169469088	G	C	169469088	2	2	22	1	0	0	0	0	0	0	0	1	4687	1277	45	4		4	DOCK2	5	169469088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	352784	169469088	11446172	3342	8450										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169504743	169504743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgacaggagagtgggccgTcccaggtctatgctgcgctc	15	12	1	1	rs1045168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:169504743T>C	ENST00000256935.8	+	48	4976	c.4896T>C	c.(4894-4896)cgT>cgC	p.R1632R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R1124R|DOCK2_ENST00000540750.1_Silent_p.R693R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1632					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1632R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGGCCGTCCCAGGTCTA	0.577													C|||	1458	0.291134	0.3782	0.2579	5008	,	,		15757	0.1071		0.334	False		,,,				2504	0.3425				p.R1632R		Atlas-SNP	.											DOCK2,NS,carcinoma,0,3	DOCK2	389	3	1	Substitution - coding silent(1)	stomach(1)	c.T4896C						PASS	.	C		1660,2746	658.5+/-400.4	303,1054,846	132	119	124		4896	-5.4	0.9	5	dbSNP_86	124	2650,5950	685.7+/-404.1	414,1822,2064	no	coding-synonymous	DOCK2	NM_004946.2		717,2876,2910	CC,CT,TT		30.814,37.6759,33.1386		1632/1831	169504743	4310,8696	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon48			GGGCCGTCCCAGG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4896T>C	5.37:g.169504743T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			A|0.000;C|0.311;T|0.689	0.311	strong		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169504743	T	C	169504743	2	2	22	1	0	0	0	0	0	0	0	1	4687	1654	58	2		2	DOCK2	5	169504743	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35655	169504743	11410517	3343	8451										
KCNMB1	3779	hgsc.bcm.edu	37	chr5	169805956	169805956	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccgtctggtaattgtccaCgctgcctgggatgtaggagc	15	10	1	0	rs2301149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:169805956C>G	ENST00000274629.4	-	4	770	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	110			V -> L (in dbSNP:rs2301149).		blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TAATTGTCCACGCTGCCTGGG	0.547													G|||	617	0.123203	0.1316	0.111	5008	,	,		16028	0.1339		0.1004	False		,,,				2504	0.1329				p.E110Q		Atlas-SNP	.											KCNMB1,NS,carcinoma,0,1	KCNMB1	38	1	0			c.G328C						PASS	.	G	,LEU/VAL	466,3940	782.7+/-414.6	24,418,1761	62	64	63		,328	3	1	5	dbSNP_100	63	725,7875	785.9+/-407.6	36,653,3611	yes	intron,missense	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,32	60,1071,5372	GG,GC,CC		8.4302,10.5765,9.1573	,benign	,110/192	169805956	1191,11815	2203	4300	6503	SO:0001583	missense	3779	exon4			TGTCCACGCTGCC	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.328G>C	5.37:g.169805956C>G	ENSP00000274629:p.Val110Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	102	46	0.45098	NM_004137	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	235	0.10760073260073261	53	0.10772357723577236	47	0.1298342541436464	70	0.12237762237762238	65	0.08575197889182058	G	9.771	1.172679	0.21704	0.105765	0.084302	ENSG00000145936	ENST00000274629	T	0.08984	3.03	5.17	3.03	0.35002	.	0.407302	0.25175	N	0.032575	T	0.00039	0.0001	N	0.00347	-1.61	0.09310	P	0.99999999356255	B	0.02656	0.0	B	0.01281	0.0	T	0.38286	-0.9668	8	.	.	.	.	6.0615	0.19841	0.184:0.2949:0.5211:0.0	rs2301149;rs57496667;rs2301149	110	Q16558	KCMB1_HUMAN	L	110	ENSP00000274629:V110L	.	V	-	1	0	KCNMB1	169738534	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.632000	0.37102	0.580000	0.29522	-0.335000	0.08231	GTG	C|0.898;G|0.102	0.102	strong		0.547	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			G	169805956	C	G	169805956	3	3	22	1	0	0	0	0	1	0	0	0	8074	536	19	4	251	4	KCNMB1	5	169805956	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	301213	169805956	11109304	3344	8452										
GABRP	2568	hgsc.bcm.edu	37	chr5	170215670	170215670	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctgagtctcttcactgaGaggtgagctttgctaccccc	10	12	3	3	rs7725726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:170215670G>A	ENST00000518525.1	+	3	515	c.51G>A	c.(49-51)gaG>gaA	p.E17E	GABRP_ENST00000519385.1_Silent_p.E17E|GABRP_ENST00000519598.1_Silent_p.E17E|GABRP_ENST00000265294.4_Silent_p.E17E|MIR4454_ENST00000518172.1_RNA			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	17					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCACTGAGAGGTGAGCTT	0.552													A|||	1230	0.245607	0.5159	0.1816	5008	,	,		17601	0.1647		0.0696	False		,,,				2504	0.1902				p.E17E		Atlas-SNP	.											.	GABRP	65	.	0			c.G51A						PASS	.	A		1984,2422	616.5+/-392.8	444,1096,663	176	160	165		51	-1.2	0	5	dbSNP_116	165	618,7982	791.8+/-407.5	22,574,3704	no	coding-synonymous	GABRP	NM_014211.2		466,1670,4367	AA,AG,GG		7.186,45.0295,20.0062		17/441	170215670	2602,10404	2203	4300	6503	SO:0001819	synonymous_variant	2568	exon2			CACTGAGAGGTGA	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.51G>A	5.37:g.170215670G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	169	169	1	NM_014211	A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	CCDS4375.1																																																																																			G|0.788;A|0.212	0.212	strong		0.552	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		A	170215670	G	A	170215670	2	1	22	1	0	0	0	0	0	0	0	1	6174	933	33	2		2	GABRP	5	170215670	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	409714	170215670	10699590	3345	8453										
GABRP	2568	hgsc.bcm.edu	37	chr5	170239112	170239112	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaaaaccagcgacaagttCaagtttgtcttccgagaaaa	8	8	2	2	rs1063310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:170239112C>A	ENST00000518525.1	+	11	1637	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.F391L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	391			F -> L (in dbSNP:rs1063310). {ECO:0000269|PubMed:15489334}.		signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGACAAGTTCAAGTTTGTCT	0.403													C|||	1121	0.223842	0.2821	0.1398	5008	,	,		20252	0.2589		0.2565	False		,,,				2504	0.135				p.F391L		Atlas-SNP	.											.	GABRP	65	.	0			c.C1173A						PASS	.	C	LEU/PHE	1338,3068	447.5+/-348.4	207,924,1072	118	111	113		1173	2.9	1	5	dbSNP_86	113	2099,6501	362.7+/-332.9	282,1535,2483	yes	missense	GABRP	NM_014211.2	22	489,2459,3555	AA,AC,CC		24.407,30.3677,26.4263	benign	391/441	170239112	3437,9569	2203	4300	6503	SO:0001583	missense	2568	exon10			CAAGTTCAAGTTT	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1173C>A	5.37:g.170239112C>A	ENSP00000430100:p.Phe391Leu	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_014211	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	563	0.25778388278388276	148	0.3008130081300813	55	0.15193370165745856	165	0.28846153846153844	195	0.25725593667546176	C	7.948	0.744234	0.15710	0.303677	0.24407	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.80033	-1.33;-1.33	5.74	2.88	0.33553	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.439494	0.27595	N	0.018672	T	0.00012	0.0000	N	0.14661	0.345	0.33623	P	0.39497499999999997	B	0.20164	0.042	B	0.11329	0.006	T	0.07424	-1.0773	9	0.24483	T	0.36	.	6.0236	0.19642	0.0:0.6203:0.1353:0.2443	rs1063310;rs3173007;rs3805457;rs17565897;rs52815531;rs1063310	391	O00591	GBRP_HUMAN	L	391	ENSP00000430100:F391L;ENSP00000265294:F391L	ENSP00000265294:F391L	F	+	3	2	GABRP	170171690	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.331000	0.19733	0.295000	0.22570	0.655000	0.94253	TTC	C|0.739;A|0.261	0.261	strong		0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		A	170239112	C	A	170239112	3	1	22	1	0	0	0	0	1	0	0	0	6174	825	29	4	1207	4	GABRP	5	170239112	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23442	170239112	10676148	3346	8454										
STK10	6793	hgsc.bcm.edu	37	chr5	171533629	171533629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctgcccctcaccacttAgagggcgtgagcagcgtggg	14	15	1	2	rs2306963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:171533629A>G	ENST00000176763.5	-	6	1126	c.783T>C	c.(781-783)tcT>tcC	p.S261S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCACCACTTAGAGGGCGTGA	0.662													A|||	3801	0.758986	0.677	0.768	5008	,	,		13410	0.8542		0.7435	False		,,,				2504	0.7812				p.S261S		Atlas-SNP	.											.	STK10	100	.	0			c.T783C						PASS	.	A		3019,1387	682.9+/-404.2	1056,907,240	62	58	59		783	-5.2	0.2	5	dbSNP_100	59	6124,2476	694.2+/-404.7	2177,1770,353	no	coding-synonymous	STK10	NM_005990.3		3233,2677,593	GG,GA,AA		28.7907,31.4798,29.7017		261/969	171533629	9143,3863	2203	4300	6503	SO:0001819	synonymous_variant	6793	exon6			CCACTTAGAGGGC	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.783T>C	5.37:g.171533629A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	122	66	0.540984	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	CCDS34290.1																																																																																			A|0.272;G|0.728	0.728	strong		0.662	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		G	171533629	A	G	171533629	2	3	22	1	0	0	0	0	0	0	0	1	15285	407	15	3		3	STK10	5	171533629	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1294517	171533629	9381631	3347	8455										
C5orf41	153222	hgsc.bcm.edu	37	chr5	172550204	172550204	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctcattaaagatactctCggtaagaagaatgcgagata	8	7	2	4	rs1129146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:172550204C>T	ENST00000296953.2	+	8	2122	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	CREBRF_ENST00000540014.1_Splice_Site_p.L603L	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	601					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGATACTCTCGGTAAGAAGA	0.353													C|||	768	0.153355	0.3517	0.0749	5008	,	,		17090	0.0139		0.0736	False		,,,				2504	0.1667				p.L601L		Atlas-SNP	.											.	.	.	.	0			c.C1803T						PASS	.	C		1249,3157	425.7+/-340.9	180,889,1134	74	85	82		1803	-4.9	1	5	dbSNP_119	82	622,7978	160.8+/-213.9	22,578,3700	yes	coding-synonymous-near-splice	C5orf41	NM_153607.2		202,1467,4834	TT,TC,CC		7.2326,28.3477,14.3857		601/640	172550204	1871,11135	2203	4300	6503	SO:0001630	splice_region_variant	153222	exon8			TACTCTCGGTAAG	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1804+1C>T	5.37:g.172550204C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	196	100	0.510204	NM_153607	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	ENST00000296953.2	37	CCDS34293.1																																																																																			C|0.868;T|0.132	0.132	strong		0.353	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607	Silent	T	172550204	C	T	172550204	5	4	22	1	0	0	0	0	0	0	1	0	2300	898	31	1	1861	1	C5orf41	5	172550204	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1016575	172550204	8365056	3348	8456										
NKX2-5	1482	hgsc.bcm.edu	37	chr5	172662014	172662014	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccggcggcagccaggctgcGctgctgctgttccaggttta					rs28936670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:172662014G>A	ENST00000329198.4	-	1	346	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NKX2-5_ENST00000424406.2_Missense_Mutation_p.R25C|NKX2-5_ENST00000521848.1_Missense_Mutation_p.R25C	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	25			R -> C (in ASD7, TOF, CHNG5 and HLHS2; exhibits significant functional impairment with reduction of transactivation properties and dominant- negative effect; the mutant protein activity on the DIO2, TG and TPO promoters is significantly impaired; dbSNP:rs28936670). {ECO:0000269|PubMed:10587520, ECO:0000269|PubMed:11714651, ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:15342699, ECO:0000269|PubMed:15810002, ECO:0000269|PubMed:16418214}.		adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|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)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCAGGCTGCGCTGCTGCTGT	0.672													G|||	51	0.0101837	0.0363	0.0029	5008	,	,		12104	0.0		0.001	False		,,,				2504	0.0				p.R25C	Esophageal Squamous(72;810 1219 2387 13420 44943)	Atlas-SNP	.											.	NKX2-5	42	.	0			c.C73T	GRCh37	CM993125	NKX2-5	M	rs28936670	PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	115,4231		0,115,2058	20	25	23	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	73,73,73	3.9	1	5	dbSNP_125	23	8,8528		0,8,4260	yes	missense,missense,missense	NKX2-5	NM_001166175.1,NM_001166176.1,NM_004387.3	180,180,180	0,123,6318	AA,AG,GG		0.0937,2.6461,0.9548	probably-damaging,probably-damaging,probably-damaging	25/113,25/152,25/325	172662014	123,12759	2173	4268	6441	SO:0001583	missense	1482	exon1			GGCTGCGCTGCTG	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.73C>T	5.37:g.172662014G>A	ENSP00000327758:p.Arg25Cys	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	157	77	0.490446	NM_004387	A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	CCDS4387.1	10	0.004578754578754579	7	0.014227642276422764	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	17.06	3.293107	0.60086	0.026461	9.37E-4	ENSG00000183072	ENST00000329198;ENST00000424406;ENST00000521848;ENST00000517440	D;D;D;D	0.90385	-2.66;-2.53;-2.6;-2.55	4.76	3.89	0.44902	.	0.491101	0.15624	N	0.252757	T	0.66157	0.2761	L	0.40543	1.245	0.38768	A	0.954489	B;B;B	0.29646	0.253;0.089;0.002	B;B;B	0.21546	0.035;0.008;0.001	T	0.76594	-0.2902	9	0.56958	D	0.05	.	3.5512	0.07847	0.0824:0.2014:0.467:0.2492	rs28936670	25;25;25	B4DNB6;E5RH49;P52952	.;.;NKX25_HUMAN	C	25	ENSP00000327758:R25C;ENSP00000395378:R25C;ENSP00000427906:R25C;ENSP00000429905:R25C	ENSP00000327758:R25C	R	-	1	0	NKX2-5	172594620	0.992000	0.36948	0.993000	0.49108	0.842000	0.47809	1.185000	0.32065	1.118000	0.41863	0.462000	0.41574	CGC	G|0.993;A|0.007	0.007	strong		0.672	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			A	172662014	G	A	172662014	3	1	22	1	0	0	0	0	1	0	0	0	10453	1087	38	1	1044	1	NKX2-5	5	172662014	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111810	172662014	8253246	3349	8457	157	2								
NKX2-5	1482	hgsc.bcm.edu	37	chr5	172662024	172662024	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggctgcgctgctgctgTtccaggtttaggatgtcttt					rs2277923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:172662024T>C	ENST00000329198.4	-	1	336	c.63A>G	c.(61-63)gaA>gaG	p.E21E	NKX2-5_ENST00000424406.2_Silent_p.E21E|NKX2-5_ENST00000521848.1_Silent_p.E21E	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	21			E -> Q (in TOF and ASD7). {ECO:0000269|PubMed:11714651, ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:15810002}.		adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|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)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGCTGCTGTTCCAGGTTTA	0.677													C|||	2683	0.535743	0.7254	0.5058	5008	,	,		12062	0.6339		0.2823	False		,,,				2504	0.4601				p.E21E	Esophageal Squamous(72;810 1219 2387 13420 44943)	Atlas-SNP	.											.	NKX2-5	42	.	0			c.A63G						PASS	.	C	,,	2801,1545		920,961,292	22	27	25		63,63,63	2.9	1	5	dbSNP_100	25	2392,6110		379,1634,2238	no	coding-synonymous,coding-synonymous,coding-synonymous	NKX2-5	NM_001166175.1,NM_001166176.1,NM_004387.3	,,	1299,2595,2530	CC,CT,TT		28.1346,35.5499,40.4187	,,	21/113,21/152,21/325	172662024	5193,7655	2173	4251	6424	SO:0001819	synonymous_variant	1482	exon1			CTGCTGTTCCAGG	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.63A>G	5.37:g.172662024T>C		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	164	73	0.445122	NM_004387	A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	CCDS4387.1																																																																																			T|0.555;C|0.445	0.445	strong		0.677	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			C	172662024	T	C	172662024	2	2	22	1	0	0	0	0	0	0	0	1	10453	1722	60	2		2	NKX2-5	5	172662024	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	172662024	8253236	3350	8458	157	2								
BOD1	91272	hgsc.bcm.edu	37	chr5	173036394	173036394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaagttttggatccaccaCctgagaaataatcctgtcta	7	9	1	1	rs72822197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:173036394C>T	ENST00000311086.4	-	3	629	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron|BOD1_ENST00000471339.1_5'Flank	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	136					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GGATCCACCACCTGAGAAATA	0.468																																					p.V136M		Atlas-SNP	.											.	BOD1	15	.	0			c.G406A						PASS	.						150	136	141					5																	173036394		2203	4300	6503	SO:0001583	missense	91272	exon3			CCACCACCTGAGA	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.406G>A	5.37:g.173036394C>T	ENSP00000309644:p.Val136Met	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	306	39	0.127451	NM_138369	B4DXH8|Q9BTW1	Missense_Mutation	SNP	ENST00000311086.4	37	CCDS4389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803392|4.803392	0.90623|0.90623	.|.	.|.	ENSG00000145919|ENSG00000145919	ENST00000477985|ENST00000311086;ENST00000462674	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71367|0.71367	0.3331|0.3331	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P	.|0.46987	.|0.888	.|P	.|0.46825	.|0.528	T|T	0.75470|0.75470	-0.3306|-0.3306	5|9	.|0.72032	.|D	.|0.01	-25.5605|-25.5605	19.7198|19.7198	0.96137|0.96137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|136	.|Q96IK1	.|BOD1_HUMAN	D|M	68|136;31	.|.	.|ENSP00000309644:V136M	G|V	-|-	2|1	0|0	BOD1|BOD1	172969000|172969000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.474000|7.474000	0.81024|0.81024	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	GGT|GTG	C|0.946;T|0.054	0.054	strong		0.468	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369		T	173036394	C	T	173036394	3	4	22	1	0	0	0	0	1	0	0	0	1482	507	18	2	187	2	BOD1	5	173036394	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	374370	173036394	7878866	3351	8459										
C5orf25	375484	hgsc.bcm.edu	37	chr5	175722243	175722243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcctaaaggaggcctacAtgcttctcatgaaaattcaa	7	9	2	1	rs7736723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:175722243A>G	ENST00000443967.1	+	5	1992	c.1585A>G	c.(1585-1587)Atg>Gtg	p.M529V	SIMC1_ENST00000341199.6_Missense_Mutation_p.M114V|SIMC1_ENST00000429602.2_Missense_Mutation_p.M548V|SIMC1_ENST00000430704.2_Missense_Mutation_p.M114V			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	529							SUMO polymer binding (GO:0032184)										GGAGGCCTACATGCTTCTCAT	0.483													A|||	81	0.0161741	0.059	0.0043	5008	,	,		16361	0.0		0.0	False		,,,				2504	0.0				p.M114V		Atlas-SNP	.											.	.	.	.	0			c.A340G						PASS	.	A	VAL/MET	276,4128	150.7+/-184.7	3,270,1929	39	32	34		340	4.2	1	5	dbSNP_129	34	1,8595	1.2+/-3.3	0,1,4297	no	missense	C5orf25	NM_198567.4	21	3,271,6226	GG,GA,AA		0.0116,6.267,2.1308	possibly-damaging	114/458	175722243	277,12723	2202	4298	6500	SO:0001583	missense	375484	exon2			GCCTACATGCTTC	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1585A>G	5.37:g.175722243A>G	ENSP00000406571:p.Met529Val	Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	323	134	0.414861	NM_198567	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		32	0.014652014652014652	32	0.06504065040650407	0	0.0	0	0.0	0	0.0	A	16.45	3.127921	0.56721	0.06267	1.16E-4	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000429602	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.24	4.24	0.50183	.	0.174470	0.43747	D	0.000531	T	0.05686	0.0149	L	0.48642	1.525	0.25231	N	0.989824	P;P;D	0.57257	0.865;0.782;0.979	B;B;P	0.53401	0.391;0.327;0.725	T	0.01238	-1.1409	10	0.51188	T	0.08	-16.7421	12.4812	0.55844	1.0:0.0:0.0:0.0	rs55844480	548;114;529	B4DRM7;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	V	114;114;529;548	ENSP00000342075:M114V;ENSP00000409287:M114V;ENSP00000406571:M529V;ENSP00000410552:M548V	ENSP00000342075:M114V	M	+	1	0	C5orf25	175654849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.371000	0.59523	1.775000	0.52247	0.496000	0.49642	ATG	A|1.000;|0.000	.	weak		0.483	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		G	175722243	A	G	175722243	3	3	22	1	0	0	0	0	1	0	0	0	2288	217	8	2	346	2	C5orf25	5	175722243	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2685849	175722243	5193017	3352	8460										
ARL10	285598	hgsc.bcm.edu	37	chr5	175793532	175793532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacatccccacctggggCttcaactccgtgcgtctgcc	10	18	2	0	rs2303666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:175793532C>T	ENST00000310389.5	+	2	429	c.333C>T	c.(331-333)ggC>ggT	p.G111G	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	111					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCACCTGGGGCTTCAACTCCG	0.637													C|||	574	0.114617	0.0628	0.1585	5008	,	,		17243	0.1121		0.1272	False		,,,				2504	0.1431				p.G111G		Atlas-SNP	.											.	ARL10	19	.	0			c.C333T						PASS	.	C		336,4070	175.5+/-204.9	12,312,1879	76	80	79		333	2.2	1	5	dbSNP_100	79	1136,7464	234.7+/-267.5	73,990,3237	no	coding-synonymous	ARL10	NM_173664.4		85,1302,5116	TT,TC,CC		13.2093,7.626,11.3179		111/245	175793532	1472,11534	2203	4300	6503	SO:0001819	synonymous_variant	285598	exon2			CTGGGGCTTCAAC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.333C>T	5.37:g.175793532C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	92	43	0.467391	NM_173664		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			C|0.894;T|0.106	0.106	strong		0.637	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		T	175793532	C	T	175793532	2	4	22	1	0	0	0	0	0	0	0	1	926	784	28	2		2	ARL10	5	175793532	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71289	175793532	5121728	3353	8461										
NOP16	51491	hgsc.bcm.edu	37	chr5	175811233	175811233	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgtgatgtaaaccagtCactccacctccatcttcctc	5	16	2	1	rs1065206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:175811233C>T	ENST00000389158.5	-	5	971	c.536G>A	c.(535-537)tGa>tAa	p.*179*	NOP16_ENST00000507413.1_Silent_p.V54V|NOP16_ENST00000510123.1_Missense_Mutation_p.D149N			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	0						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GTAAACCAGTCACTCCACCTC	0.537													C|||	316	0.063099	0.1513	0.0519	5008	,	,		18191	0.0		0.0636	False		,,,				2504	0.0164				p.D150N		Atlas-SNP	.											.	NOP16	26	.	0			c.G448A						PASS	.	C		540,3476		29,482,1497	122	122	122		536	4.5	1	5	dbSNP_86	122	583,7761		25,533,3614	yes	coding-synonymous	NOP16	NM_016391.4		54,1015,5111	TT,TC,CC		6.9871,13.4462,9.0858		179/179	175811233	1123,11237	2008	4172	6180	SO:0001819	synonymous_variant	51491	exon5			ACCAGTCACTCCA		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.536G>A	5.37:g.175811233C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_001256539	B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	CCDS43403.1	137	0.06272893772893773	65	0.13211382113821138	21	0.058011049723756904	0	0.0	51	0.06728232189973615	C	17.23	3.335836	0.60853	0.134462	0.069871	ENSG00000048162	ENST00000510123;ENST00000341213;ENST00000451293	.	.	.	5.35	4.47	0.54385	.	0.684833	0.15269	N	0.271348	T	0.00967	0.0032	.	.	.	0.09310	P	1.0	D;D	0.59767	0.986;0.986	P;P	0.49637	0.617;0.617	T	0.29212	-1.0019	7	0.87932	D	0	-10.2921	14.9771	0.71283	0.0:0.9285:0.0:0.0715	rs1065206;rs3172922;rs60934001;rs1065206	150;149	Q6PIM0;D6RGD3	.;.	N	149;154;150	.	ENSP00000340662:D154N	D	-	1	0	NOP16	175743839	1.000000	0.71417	0.975000	0.42487	0.029000	0.11900	1.731000	0.38135	2.941000	0.99782	0.655000	0.94253	GAC	C|0.924;T|0.076	0.076	strong		0.537	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		T	175811233	C	T	175811233	2	4	22	1	0	0	0	0	0	0	0	1	10537	840	29	2		2	NOP16	5	175811233	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17701	175811233	5104027	3354	8462										
HIGD2A	192286	hgsc.bcm.edu	37	chr5	175815874	175815874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctttgaaccatcgaagccTccagtcattgaggggctgag	11	12	1	3	rs1060588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:175815874T>C	ENST00000274787.2	+	1	127	c.54T>C	c.(52-54)ccT>ccC	p.P18P	NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000389158.5_5'UTR|NOP16_ENST00000507413.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	18					negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CATCGAAGCCTCCAGTCATTG	0.582													T|||	398	0.0794728	0.1846	0.0648	5008	,	,		16148	0.0		0.0905	False		,,,				2504	0.0184				p.P18P		Atlas-SNP	.											.	HIGD2A	7	.	0			c.T54C						PASS	.	T		704,3702	270.7+/-269.8	46,612,1545	81	89	86		54	2.5	0.9	5	dbSNP_86	86	826,7774	179.5+/-228.6	41,744,3515	no	coding-synonymous	HIGD2A	NM_138820.2		87,1356,5060	CC,CT,TT		9.6047,15.9782,11.7638		18/107	175815874	1530,11476	2203	4300	6503	SO:0001819	synonymous_variant	192286	exon1			GAAGCCTCCAGTC	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"HIG1 domain family, member 2A"			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.54T>C	5.37:g.175815874T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	71	70	0.985915	NM_138820		Silent	SNP	ENST00000274787.2	37	CCDS4401.1																																																																																			T|0.893;C|0.107	0.107	strong		0.582	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		C	175815874	T	C	175815874	2	2	22	1	0	0	0	0	0	0	0	1	7109	1538	54	3		3	HIGD2A	5	175815874	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4641	175815874	5099386	3355	8463										
CDHR2	54825	hgsc.bcm.edu	37	chr5	175998246	175998246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctggtgattgtggaagaTagaaacgacaacgcacccgt	12	8	0	3	rs17078320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:175998246T>C	ENST00000510636.1	+	6	622	c.348T>C	c.(346-348)gaT>gaC	p.D116D	CDHR2_ENST00000261944.5_Silent_p.D116D|CDHR2_ENST00000506348.1_Silent_p.D116D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTGTGGAAGATAGAAACGACA	0.512													C|||	1606	0.320687	0.3026	0.2262	5008	,	,		15205	0.4841		0.2157	False		,,,				2504	0.3517				p.D116D		Atlas-SNP	.											.	CDHR2	152	.	0			c.T348C						PASS	.	C	,	1295,3111	698.0+/-406.3	175,945,1083	99	82	88		348,348	2.4	1	5	dbSNP_123	88	1693,6907	737.6+/-407.0	154,1385,2761	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	329,2330,3844	CC,CT,TT		19.686,29.3917,22.974	,	116/1311,116/1311	175998246	2988,10018	2203	4300	6503	SO:0001819	synonymous_variant	54825	exon6			GGAAGATAGAAAC	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.348T>C	5.37:g.175998246T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	104	57	0.548077	NM_017675	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			T|0.732;C|0.268	0.268	strong		0.512	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		C	175998246	T	C	175998246	2	2	22	1	0	0	0	0	0	0	0	1	3119	1403	49	2		2	CDHR2	5	175998246	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	182372	175998246	4917014	3356	8464										
CDHR2	54825	hgsc.bcm.edu	37	chr5	176011968	176011968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcacgctggttgtgcggGcctgtgacctagccacggac	15	12	1	1	rs114527399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176011968G>A	ENST00000510636.1	+	19	2960	c.2686G>A	c.(2686-2688)Gcc>Acc	p.A896T	CDHR2_ENST00000261944.5_Missense_Mutation_p.A896T|CDHR2_ENST00000506348.1_Missense_Mutation_p.A896T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	896	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTTGTGCGGGCCTGTGACCT	0.627													G|||	9	0.00179712	0.0068	0.0	5008	,	,		19273	0.0		0.0	False		,,,				2504	0.0				p.A896T		Atlas-SNP	.											.	CDHR2	152	.	0			c.G2686A						PASS	.	G	THR/ALA,THR/ALA	29,4319		0,29,2145	29	25	26		2686,2686	5.4	1	5	dbSNP_132	26	0,8520		0,0,4260	yes	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	58,58	0,29,6405	AA,AG,GG		0.0,0.667,0.2254	probably-damaging,probably-damaging	896/1311,896/1311	176011968	29,12839	2174	4260	6434	SO:0001583	missense	54825	exon19			GTGCGGGCCTGTG	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2686G>A	5.37:g.176011968G>A	ENSP00000424565:p.Ala896Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_017675	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	21.9	4.219121	0.79464	0.00667	0.0	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.75589	-0.95;-0.95;-0.95	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86493	0.5946	H	0.95611	3.695	0.42064	D	0.991178	D	0.62365	0.991	P	0.59595	0.86	D	0.90838	0.4721	9	0.62326	D	0.03	-45.3354	19.2279	0.93824	0.0:0.0:1.0:0.0	.	896	Q9BYE9	CDHR2_HUMAN	T	896	ENSP00000424565:A896T;ENSP00000261944:A896T;ENSP00000421078:A896T	ENSP00000261944:A896T	A	+	1	0	CDHR2	175944574	1.000000	0.71417	0.999000	0.59377	0.304000	0.27724	7.214000	0.77958	2.547000	0.85894	0.549000	0.68633	GCC	G|0.996;A|0.004	0.004	strong		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176011968	G	A	176011968	3	1	22	1	0	0	0	0	1	0	0	0	3119	1203	42	2	2756	2	CDHR2	5	176011968	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13722	176011968	4903292	3357	8465										
UNC5A	90249	hgsc.bcm.edu	37	chr5	176305523	176305523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacgcagcggtacttgcaCtgcaccttcaccctggagcg	12	15	1	0	rs146460064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176305523C>T	ENST00000329542.4	+	13	2341	c.2067C>T	c.(2065-2067)caC>caT	p.H689H	UNC5A_ENST00000261961.3_Silent_p.H649H	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	689					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTACTTGCACTGCACCTTCA	0.602													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20146	0.0		0.0	False		,,,				2504	0.0				p.H689H		Atlas-SNP	.											.	UNC5A	76	.	0			c.C2067T						PASS	.	C		41,4365	44.6+/-78.6	0,41,2162	107	83	91		2067	3.8	1	5	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	UNC5A	NM_133369.2		0,41,6462	TT,TC,CC		0.0,0.9305,0.3152		689/843	176305523	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	90249	exon13			CTTGCACTGCACC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2067C>T	5.37:g.176305523C>T		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	222	116	0.522523	NM_133369	B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	CCDS34299.1																																																																																			C|0.996;T|0.004	0.004	strong		0.602	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		T	176305523	C	T	176305523	2	4	22	1	0	0	0	0	0	0	0	1	16988	564	20	2		2	UNC5A	5	176305523	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	293555	176305523	4609737	3358	8466										
HK3	3101	hgsc.bcm.edu	37	chr5	176315822	176315822	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtgagccagcaccagccGcaccagctcacccaggtaca	9	17	1	1	rs61749652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176315822G>T	ENST00000292432.5	-	9	1049	c.958C>A	c.(958-960)Cgg>Agg	p.R320R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	320	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACCAGCCGCACCAGCTCA	0.637													G|||	79	0.0157748	0.0144	0.0072	5008	,	,		16439	0.0		0.0268	False		,,,				2504	0.0286				p.R320R		Atlas-SNP	.											HK3_ENST00000292432,NS,carcinoma,0,2	HK3	210	2	0			c.C958A						PASS	.	G		108,4298	83.4+/-121.9	1,106,2096	46	49	48		958	3.5	1	5	dbSNP_129	48	170,8430	78.6+/-141.3	6,158,4136	no	coding-synonymous	HK3	NM_002115.2		7,264,6232	TT,TG,GG		1.9767,2.4512,2.1375		320/924	176315822	278,12728	2203	4300	6503	SO:0001819	synonymous_variant	3101	exon9			CCAGCCGCACCAG		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.958C>A	5.37:g.176315822G>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	83	40	0.481928	NM_002115	Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																			G|0.979;T|0.021	0.021	strong		0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176315822	G	T	176315822	2	4	22	1	0	0	0	0	0	0	0	1	7192	1086	38	4		4	HK3	5	176315822	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10299	176315822	4599438	3359	8467										
UIMC1	51720	hgsc.bcm.edu	37	chr5	176370402	176370402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctttgtgggtggaaagcAttggtcacatagcgggcagg	15	6	2	0	rs13360277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176370402A>G	ENST00000377227.4	-	10	1663	c.1531T>C	c.(1531-1533)Tgc>Cgc	p.C511R	UIMC1_ENST00000511320.1_Missense_Mutation_p.C511R|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Missense_Mutation_p.C345R|UIMC1_ENST00000377219.2_Missense_Mutation_p.C511R			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	511	Zinc-finger-like region.		C -> R (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs13360277). {ECO:0000269|PubMed:18695986}.		double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGAAAGCATTGGTCACAT	0.458													G|||	844	0.16853	0.4304	0.1023	5008	,	,		19523	0.0129		0.0517	False		,,,				2504	0.1421				p.C511R		Atlas-SNP	.											.	UIMC1	55	.	0			c.T1531C						PASS	.	G	ARG/CYS,ARG/CYS,ARG/CYS	1638,2768	659.2+/-400.5	314,1010,879	268	239	249		1531,1531,1531	2	1	5	dbSNP_121	249	382,8218	802.3+/-407.3	13,356,3931	yes	missense,missense,missense	UIMC1	NM_001199297.1,NM_001199298.1,NM_016290.4	180,180,180	327,1366,4810	GG,GA,AA		4.4419,37.1766,15.5313	benign,benign,benign	511/720,511/720,511/720	176370402	2020,10986	2203	4300	6503	SO:0001583	missense	51720	exon10			GAAAGCATTGGTC	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1531T>C	5.37:g.176370402A>G	ENSP00000366434:p.Cys511Arg	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	116	59	0.508621	NM_016290	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	283	0.1295787545787546	208	0.42276422764227645	28	0.07734806629834254	9	0.015734265734265736	38	0.05013192612137203	G	0.008	-1.871872	0.00542	0.371766	0.044419	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.78	2.0	0.26442	.	0.519717	0.18999	N	0.125398	T	0.00012	0.0000	N	0.08118	0	0.37199	P	0.09571399999999997	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.004;0.0;0.0;0.0	T	0.47275	-0.9130	9	0.11794	T	0.64	.	4.2306	0.10601	0.1506:0.4697:0.2961:0.0837	rs13360277;rs58061296;rs13360277	511;230;345;141;433	Q96RL1;D6RCF3;C9JR12;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.;.;.	R	511;511;511;345;433;141	ENSP00000366434:C511R;ENSP00000366425:C511R;ENSP00000421926:C511R;ENSP00000427480:C345R	ENSP00000314909:C141R	C	-	1	0	UIMC1	176303008	0.977000	0.34250	0.964000	0.40570	0.001000	0.01503	0.178000	0.16820	-0.007000	0.14345	-2.306000	0.00257	TGC	A|0.846;G|0.154	0.154	strong		0.458	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		G	176370402	A	G	176370402	3	3	22	1	0	0	0	0	1	0	0	0	16968	217	8	2	652	2	UIMC1	5	176370402	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	54580	176370402	4544858	3360	8468										
NSD1	64324	hgsc.bcm.edu	37	chr5	176636882	176636882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagaaggaaaagccttgCgctaaatctcgagccagaaa	11	8	1	2	rs1363405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176636882C>T	ENST00000439151.2	+	5	1527	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	NSD1_ENST00000347982.4_Silent_p.C225C|NSD1_ENST00000361032.4_Silent_p.C391C|NSD1_ENST00000354179.4_Silent_p.C225C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	494					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAGCCTTGCGCTAAATCTC	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			T|||	2344	0.468051	0.7693	0.3343	5008	,	,		17503	0.5298		0.1988	False		,,,				2504	0.3691				p.C494C		Atlas-SNP	.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	416	.	0			c.C1482T						PASS	.	T	,	2971,1435	464.3+/-353.8	1012,947,244	76	77	77		1482,675	4.3	1	5	dbSNP_88	77	1635,6965	741.5+/-407.2	157,1321,2822	no	coding-synonymous,coding-synonymous	NSD1	NM_022455.4,NM_172349.2	,	1169,2268,3066	TT,TC,CC		19.0116,32.5692,35.4144	,	494/2697,225/2428	176636882	4606,8400	2203	4300	6503	SO:0001819	synonymous_variant	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	GCCTTGCGCTAAA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1482C>T	5.37:g.176636882C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	98	96	0.979592	NM_022455	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																			C|0.607;T|0.393	0.393	strong		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176636882	C	T	176636882	2	4	22	1	0	0	0	0	0	0	0	1	10669	776	27	1		1	NSD1	5	176636882	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	266480	176636882	4278378	3361	8469										
MXD3	83463	hgsc.bcm.edu	37	chr5	176734855	176734855	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcagccgctcccgctcGgccgcccctgccagcccccg	11	25	0	0	rs4568379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176734855G>C	ENST00000439742.2	-	5	910	c.432C>G	c.(430-432)gcC>gcG	p.A144A	MXD3_ENST00000427908.2_Silent_p.A144A|MXD3_ENST00000423571.2_Silent_p.A144A|MXD3_ENST00000513063.1_Silent_p.A144A	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	144					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			GCTCCCGCTCGGCCGCCCCTG	0.697													G|||	1039	0.207468	0.3555	0.1686	5008	,	,		11663	0.0258		0.2276	False		,,,				2504	0.2014				p.A144A		Atlas-SNP	.											.	MXD3	13	.	0			c.C432G						PASS	.	G	,	1112,2786		174,764,1011	8	10	10		432,432	-8.5	0	5	dbSNP_111	10	1622,6156		180,1262,2447	no	coding-synonymous,coding-synonymous	MXD3	NM_001142935.1,NM_031300.3	,	354,2026,3458	CC,CG,GG		20.8537,28.5274,23.4156	,	144/194,144/207	176734855	2734,8942	1949	3889	5838	SO:0001819	synonymous_variant	83463	exon5			CCGCTCGGCCGCC	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.432C>G	5.37:g.176734855G>C		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	26	25	0.961538	NM_001142935	B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP	ENST00000439742.2	37	CCDS4416.1																																																																																			G|0.800;C|0.200	0.200	strong		0.697	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			C	176734855	G	C	176734855	2	2	22	1	0	0	0	0	0	0	0	1	10000	1103	39	4		4	MXD3	5	176734855	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97973	176734855	4180405	3362	8470										
MXD3	83463	hgsc.bcm.edu	37	chr5	176734945	176734945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgagctgtcgggcccgCtgctcctgatcctccagctt	10	16	0	2	rs35691394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176734945C>A	ENST00000439742.2	-	5	820	c.342G>T	c.(340-342)caG>caT	p.Q114H	MXD3_ENST00000427908.2_Missense_Mutation_p.Q114H|MXD3_ENST00000423571.2_Missense_Mutation_p.Q114H|MXD3_ENST00000513063.1_Missense_Mutation_p.Q114H	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	114			Q -> H (in dbSNP:rs35691394).		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			GTCGGGCCCGCTGCTCCTGAT	0.711													C|||	7	0.00139776	0.0053	0.0	5008	,	,		15589	0.0		0.0	False		,,,				2504	0.0				p.Q114H		Atlas-SNP	.											.	MXD3	13	.	0			c.G342T						PASS	.	C	HIS/GLN,HIS/GLN	29,4071		0,29,2021	5	6	5		342,342	4.1	1	5	dbSNP_126	5	1,8135		0,1,4067	no	missense,missense	MXD3	NM_001142935.1,NM_031300.3	24,24	0,30,6088	AA,AC,CC		0.0123,0.7073,0.2452	possibly-damaging,possibly-damaging	114/194,114/207	176734945	30,12206	2050	4068	6118	SO:0001583	missense	83463	exon5			GGCCCGCTGCTCC	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.342G>T	5.37:g.176734945C>A	ENSP00000401867:p.Gln114His	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	39	22	0.564103	NM_001142935	B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	ENST00000439742.2	37	CCDS4416.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	19.48	3.835342	0.71373	0.007073	1.23E-4	ENSG00000213347	ENST00000427908;ENST00000423571;ENST00000439742;ENST00000303165;ENST00000513063;ENST00000513169;ENST00000502529	D;D;D;D;T;T	0.88975	-2.45;-2.45;-2.45;-2.45;0.88;0.9	5.0	4.13	0.48395	Helix-loop-helix DNA-binding (3);	0.422928	0.25416	N	0.030831	D	0.87249	0.6130	L	0.44542	1.39	0.33730	D	0.618086	D;D;D;D	0.71674	0.998;0.989;0.981;0.99	P;P;P;P	0.62560	0.904;0.769;0.687;0.825	D	0.90640	0.4574	10	0.59425	D	0.04	-0.452	10.1788	0.42955	0.0:0.8454:0.0:0.1546	rs35691394	114;105;114;114	Q9BW11-3;F8W9D2;Q9BW11;B4E0J1	.;.;MAD3_HUMAN;.	H	114;114;114;105;114;31;104	ENSP00000416921:Q114H;ENSP00000389716:Q114H;ENSP00000401867:Q114H;ENSP00000421463:Q114H;ENSP00000427104:Q31H;ENSP00000425029:Q104H	ENSP00000307720:Q105H	Q	-	3	2	MXD3	176667551	0.001000	0.12720	0.979000	0.43373	0.681000	0.39784	1.288000	0.33296	1.226000	0.43582	0.561000	0.74099	CAG	C|0.997;A|0.003	0.003	strong		0.711	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			A	176734945	C	A	176734945	3	1	22	1	0	0	0	0	1	0	0	0	10000	796	28	4	367	4	MXD3	5	176734945	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90	176734945	4180315	3363	8471										
RGS14	10636	hgsc.bcm.edu	37	chr5	176798996	176798996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcccaagggcccagctccGaggagaccccaccacagacc	10	20	0	2	rs149981884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176798996G>A	ENST00000408923.3	+	15	1809	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	541					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGCTCCGAGGAGACCCC	0.632													C|||	36	0.0071885	0.0265	0.0	5008	,	,		15334	0.0		0.001	False		,,,				2504	0.0				p.E541K	NSCLC(47;353 1896 28036)	Atlas-SNP	.											.	RGS14	34	.	0			c.G1621A						PASS	.	C	LYS/GLU	74,3978		0,74,1952	109	131	124		1621	2.9	0	5	dbSNP_134	124	3,8353		0,3,4175	yes	missense	RGS14	NM_006480.4	56	0,77,6127	AA,AG,GG		0.0359,1.8263,0.6206	benign	541/567	176798996	77,12331	2026	4178	6204	SO:0001583	missense	10636	exon15			AGCTCCGAGGAGA	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1621G>A	5.37:g.176798996G>A	ENSP00000386229:p.Glu541Lys	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	80	44	0.55	NM_006480	O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	CCDS43405.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	5.842	0.339577	0.11069	0.018263	3.59E-4	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.37584	1.19	4.84	2.9	0.33743	.	1.710450	0.02865	N	0.130773	T	0.09818	0.0241	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.21827	-1.0234	10	0.06625	T	0.88	-0.2211	2.9504	0.05860	0.0:0.4578:0.2389:0.3033	.	312;389;541	B3KUX0;O43566-5;O43566	.;.;RGS14_HUMAN	K	541;322	ENSP00000386229:E541K	ENSP00000336864:E322K	E	+	1	0	RGS14	176731602	0.001000	0.12720	0.009000	0.14445	0.018000	0.09664	1.463000	0.35277	0.678000	0.31325	-0.756000	0.03474	GAG	G|0.995;A|0.005	0.005	strong		0.632	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		A	176798996	G	A	176798996	3	1	22	1	0	0	0	0	1	0	0	0	13297	1059	37	1	1679	1	RGS14	5	176798996	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64051	176798996	4116264	3364	8472										
DBN1	1627	hgsc.bcm.edu	37	chr5	176885145	176885145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagctcctcaagggctgAgggcagagttggggtctggg	17	10	2	2	rs139935466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176885145A>C	ENST00000309007.5	-	12	1909	c.1690T>G	c.(1690-1692)Tca>Gca	p.S564A	DBN1_ENST00000393565.1_Missense_Mutation_p.S610A|DBN1_ENST00000292385.5_Missense_Mutation_p.S566A|DBN1_ENST00000512501.1_Missense_Mutation_p.S296A|DBN1_ENST00000393563.4_Missense_Mutation_p.S296A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	564					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAAGGGCTGAGGGCAGAGTT	0.642													A|||	23	0.00459265	0.0151	0.0014	5008	,	,		15225	0.0		0.002	False		,,,				2504	0.0				p.S566A		Atlas-SNP	.											.	DBN1	122	.	0			c.T1696G						PASS	.	A	ALA/SER,ALA/SER	45,4361		1,43,2159	35	40	39		1690,1696	2.1	1	5	dbSNP_134	39	0,8592		0,0,4296	yes	missense,missense	DBN1	NM_004395.3,NM_080881.2	99,99	1,43,6455	CC,CA,AA		0.0,1.0213,0.3462	possibly-damaging,possibly-damaging	564/650,566/652	176885145	45,12953	2203	4296	6499	SO:0001583	missense	1627	exon13			GGGCTGAGGGCAG		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1690T>G	5.37:g.176885145A>C	ENSP00000308532:p.Ser564Ala	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_080881	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	A	3.494	-0.103186	0.06967	0.010213	0.0	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.32023	1.48;1.48;1.47;1.47;1.5	4.71	2.09	0.27110	.	1.730350	0.02752	N	0.117546	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999983	P;B;B;B	0.35107	0.484;0.401;0.005;0.247	B;B;B;B	0.34038	0.174;0.115;0.004;0.107	T	0.24584	-1.0156	10	0.37606	T	0.19	-8.9664	9.4796	0.38893	0.7209:0.0:0.0:0.2791	.	514;610;564;566	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	A	564;566;610;296;296	ENSP00000308532:S564A;ENSP00000292385:S566A;ENSP00000377195:S610A;ENSP00000423208:S296A;ENSP00000377193:S296A	ENSP00000292385:S566A	S	-	1	0	DBN1	176817751	0.998000	0.40836	0.954000	0.39281	0.247000	0.25773	1.322000	0.33689	0.916000	0.36871	0.379000	0.24179	TCA	A|0.995;C|0.005	0.005	strong		0.642	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		C	176885145	A	C	176885145	3	2	22	1	0	0	0	0	1	0	0	0	4252	304	11	5	271	5	DBN1	5	176885145	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86149	176885145	4030115	3365	8473										
PDLIM7	9260	hgsc.bcm.edu	37	chr5	176915143	176915143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggtgggcagaagatggCgcccttctcctcaaagaagc	13	11	2	3	rs2306764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176915143C>T	ENST00000355841.2	-	10	1042	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	PDLIM7_ENST00000393551.1_3'UTR|PDLIM7_ENST00000359895.2_Missense_Mutation_p.A292T|PDLIM7_ENST00000356618.4_3'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	326	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.		A -> T (in dbSNP:rs2306764).		actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAAGATGGCGCCCTTCTCC	0.607													C|||	677	0.135184	0.1339	0.1124	5008	,	,		19401	0.2907		0.0219	False		,,,				2504	0.1094				p.A326T		Atlas-SNP	.											.	PDLIM7	32	.	0			c.G976A						PASS	.	C	THR/ALA,THR/ALA	652,3752	281.1+/-275.7	43,566,1593	134	100	111		976,874	0.8	0	5	dbSNP_100	111	203,8397	87.4+/-149.7	1,201,4098	yes	missense,missense	PDLIM7	NM_005451.3,NM_203352.1	58,58	44,767,5691	TT,TC,CC		2.3605,14.8047,6.5749	benign,benign	326/458,292/424	176915143	855,12149	2202	4300	6502	SO:0001583	missense	9260	exon10			AGATGGCGCCCTT	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.976G>A	5.37:g.176915143C>T	ENSP00000348099:p.Ala326Thr	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	61	26	0.42623	NM_005451	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	CCDS4422.1	307	0.14056776556776557	82	0.16666666666666666	32	0.08839779005524862	174	0.3041958041958042	19	0.025065963060686015	C	7.142	0.582016	0.13749	0.148047	0.023605	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.86956	-2.19;-2.19	5.26	0.818	0.18778	Zinc finger, LIM-type (4);	0.097403	0.37261	N	0.002172	T	0.00012	0.0000	L	0.28054	0.825	0.09310	P	0.99999415936	P;P	0.47034	0.889;0.854	B;B	0.43413	0.419;0.195	T	0.09952	-1.0651	9	0.13853	T	0.58	.	8.3463	0.32275	0.6479:0.2666:0.0:0.0855	rs2306764	326;292	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	T	292;326	ENSP00000352964:A292T;ENSP00000348099:A326T	ENSP00000348099:A326T	A	-	1	0	PDLIM7	176847749	0.363000	0.24989	0.031000	0.17742	0.001000	0.01503	1.037000	0.30241	0.199000	0.20427	-0.840000	0.03056	GCC	C|0.916;T|0.084	0.084	strong		0.607	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		T	176915143	C	T	176915143	3	4	22	1	0	0	0	0	1	0	0	0	11684	768	27	1	413	1	PDLIM7	5	176915143	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29998	176915143	4000117	3366	8474										
DOK3	79930	hgsc.bcm.edu	37	chr5	176936822	176936822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggttcagctgggcacgcGcgtctgatcgcagtctggct	14	13	3	1	rs371788222		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:176936822G>A	ENST00000357198.4	-	1	36	c.32C>T	c.(31-33)gCg>gTg	p.A11V	DOK3_ENST00000501403.2_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	11					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			CTGGGCACGCGCGTCTGATCG	0.711																																					p.A11V		Atlas-SNP	.											DOK3,NS,carcinoma,-1,1	DOK3	41	1	0			c.C32T						PASS	.	G	,,VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	52	52	52		,,32	2.3	0	5		52	0,8600		0,0,4300	no	intron,intron,missense	DOK3	NM_001144875.1,NM_001144876.1,NM_024872.2	,,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,11/497	176936822	1,13003	2202	4300	6502	SO:0001583	missense	79930	exon1			GCACGCGCGTCTG	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.32C>T	5.37:g.176936822G>A	ENSP00000349727:p.Ala11Val	Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	310	144	0.464516	NM_024872	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161465	0.38119	2.27E-4	0.0	ENSG00000146094	ENST00000357198	T	0.20200	2.09	3.22	2.34	0.29019	.	1.986640	0.03416	U	0.205582	T	0.12263	0.0298	N	0.08118	0	0.20563	N	0.999886	B	0.25955	0.138	B	0.11329	0.006	T	0.21381	-1.0247	10	0.87932	D	0	-23.7375	6.3296	0.21262	0.1376:0.0:0.8624:0.0	.	11	Q7L591	DOK3_HUMAN	V	11	ENSP00000349727:A11V	ENSP00000349727:A11V	A	-	2	0	DOK3	176869428	.	.	0.005000	0.12908	0.011000	0.07611	.	.	0.915000	0.36847	0.491000	0.48974	GCG	.	.	weak		0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		A	176936822	G	A	176936822	3	1	22	1	0	0	0	0	1	0	0	0	4698	1087	38	1	1834	1	DOK3	5	176936822	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21679	176936822	3978438	3367	8475										
PROP1	5626	hgsc.bcm.edu	37	chr5	177421275	177421275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcccctctgtcctccttgCggggagaaccttgatctccc	10	17	2	2	rs2233784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:177421275C>T	ENST00000308304.2	-	2	482	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	58					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCTCCTTGCGGGGAGAACC	0.662													c|||	125	0.0249601	0.0908	0.0072	5008	,	,		15546	0.0		0.0	False		,,,				2504	0.0				p.P58P		Atlas-SNP	.											PROP1,NS,carcinoma,-2,1	PROP1	28	1	0			c.G174A						PASS	.	T		357,4043		13,331,1856	25	26	26		174	-6.3	0	5	dbSNP_98	26	3,8597		0,3,4297	no	coding-synonymous	PROP1	NM_006261.4		13,334,6153	TT,TC,CC		0.0349,8.1136,2.7692		58/227	177421275	360,12640	2200	4300	6500	SO:0001819	synonymous_variant	5626	exon2			TCCTTGCGGGGAG	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.174G>A	5.37:g.177421275C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	131	68	0.519084	NM_006261		Silent	SNP	ENST00000308304.2	37	CCDS4430.1																																																																																			C|0.969;T|0.031	0.031	strong		0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		T	177421275	C	T	177421275	2	4	22	1	0	0	0	0	0	0	0	1	12557	755	27	1		1	PROP1	5	177421275	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	484453	177421275	3493985	3368	8476										
PROP1	5626	hgsc.bcm.edu	37	chr5	177422908	177422908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccccttctttggcttctcAgcctggcgcctcctttctgc	8	18	3	0	rs1135320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:177422908A>G	ENST00000308304.2	-	1	335	c.27T>C	c.(25-27)gcT>gcC	p.A9A		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	9					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCTTCTCAGCCTGGCGCC	0.622													G|||	2242	0.447684	0.2481	0.4942	5008	,	,		14630	0.5595		0.4712	False		,,,				2504	0.545				p.A9A		Atlas-SNP	.											.	PROP1	28	.	0			c.T27C						PASS	.	G		1262,3144		181,900,1122	75	67	70		27	-0.8	0	5	dbSNP_86	70	3850,4750		887,2076,1337	no	coding-synonymous	PROP1	NM_006261.4		1068,2976,2459	GG,GA,AA		44.7674,28.6428,39.3049		9/227	177422908	5112,7894	2203	4300	6503	SO:0001819	synonymous_variant	5626	exon1			CTTCTCAGCCTGG	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.27T>C	5.37:g.177422908A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_006261		Silent	SNP	ENST00000308304.2	37	CCDS4430.1																																																																																			A|0.580;G|0.420	0.420	strong		0.622	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		G	177422908	A	G	177422908	2	3	22	1	0	0	0	0	0	0	0	1	12557	175	7	3		3	PROP1	5	177422908	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1633	177422908	3492352	3369	8477										
ZNF354C	30832	hgsc.bcm.edu	37	chr5	178505831	178505831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgtggaatttgagagcgAgatagaagaagagcaagaga	15	3	0	6	rs57271258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:178505831A>G	ENST00000315475.6	+	5	704	c.398A>G	c.(397-399)gAg>gGg	p.E133G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E133G(1)		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)		TTTGAGAGCGAGATAGAAGAA	0.378													G|||	122	0.024361	0.0862	0.0115	5008	,	,		20349	0.0		0.0	False		,,,				2504	0.0				p.E133G		Atlas-SNP	.											ZNF354C,caecum,carcinoma,0,1	ZNF354C	77	1	1	Substitution - Missense(1)	large_intestine(1)	c.A398G						PASS	.	G	GLY/GLU	312,4094	788.4+/-414.9	9,294,1900	90	95	93		398	1	0	5	dbSNP_129	93	0,8600		0,0,4300	yes	missense	ZNF354C	NM_014594.1	98	9,294,6200	GG,GA,AA		0.0,7.0813,2.3989	benign	133/555	178505831	312,12694	2203	4300	6503	SO:0001583	missense	30832	exon5			AGAGCGAGATAGA		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.398A>G	5.37:g.178505831A>G	ENSP00000324064:p.Glu133Gly	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	179	99	0.553073	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	30	0.013736263736263736	27	0.054878048780487805	3	0.008287292817679558	0	0.0	0	0.0	G	7.305	0.613748	0.14066	0.070813	0.0	ENSG00000177932	ENST00000315475	T	0.05786	3.39	3.87	1.04	0.20106	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48747	-0.9008	9	0.16896	T	0.51	1.603	3.2954	0.06964	0.3129:0.0:0.505:0.182	rs57271258	133	Q86Y25	Z354C_HUMAN	G	133	ENSP00000324064:E133G	ENSP00000324064:E133G	E	+	2	0	ZNF354C	178438437	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-0.148000	0.11234	-0.930000	0.02707	GAG	A|0.974;G|0.026	0.026	strong		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			G	178505831	A	G	178505831	3	3	22	1	0	0	0	0	1	0	0	0	17863	304	11	3	412	3	ZNF354C	5	178505831	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1082923	178505831	2409429	3370	8478										
ZNF354C	30832	hgsc.bcm.edu	37	chr5	178507069	178507069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacccagtatcagagatttTttaaaggagataaagcctat	7	6	1	2	rs1445846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:178507069T>C	ENST00000315475.6	+	5	1942	c.1636T>C	c.(1636-1638)Ttt>Ctt	p.F546L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	546			F -> L (in dbSNP:rs1445846).		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)		TCAGAGATTTTTTAAAGGAGA	0.368													C|||	3886	0.775958	0.7368	0.7406	5008	,	,		17548	0.8879		0.666	False		,,,				2504	0.8517				p.F546L		Atlas-SNP	.											.	ZNF354C	77	.	0			c.T1636C						PASS	.	C	LEU/PHE	3148,1250		1120,908,171	57	62	60		1636	1.5	0	5	dbSNP_88	60	5797,2797		1974,1849,474	yes	missense	ZNF354C	NM_014594.1	22	3094,2757,645	CC,CT,TT		32.546,28.422,31.1499	benign	546/555	178507069	8945,4047	2199	4297	6496	SO:0001583	missense	30832	exon5			AGATTTTTTAAAG		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.1636T>C	5.37:g.178507069T>C	ENSP00000324064:p.Phe546Leu	Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	278	118	0.42446	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	1668	0.7637362637362637	367	0.7459349593495935	271	0.7486187845303868	512	0.8951048951048951	518	0.683377308707124	C	15.59	2.878252	0.51801	0.71578	0.67454	ENSG00000177932	ENST00000315475	T	0.04502	3.61	4.37	1.48	0.22813	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.04090	-0.28	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06110	-1.0845	8	0.72032	D	0.01	0.0	2.6352	0.04956	0.1495:0.5339:0.1451:0.1715	rs1445846;rs17666360;rs57491175;rs1445846	546	Q86Y25	Z354C_HUMAN	L	546	ENSP00000324064:F546L	ENSP00000324064:F546L	F	+	1	0	ZNF354C	178439675	0.001000	0.12720	0.000000	0.03702	0.876000	0.50452	0.686000	0.25392	-0.044000	0.13491	-0.186000	0.12905	TTT	T|0.268;C|0.731	0.731	strong		0.368	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			C	178507069	T	C	178507069	3	2	22	1	0	0	0	0	1	0	0	0	17863	1841	64	2	1650	2	ZNF354C	5	178507069	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1238	178507069	2408191	3371	8479										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178634672	178634672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggcgtgctcctctaggaCgcccagggcgcggctgaggc	17	13	1	1	rs398829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:178634672C>T	ENST00000251582.7	-	4	834	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.V245I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	245			V -> I (in dbSNP:rs398829).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCTCTAGGACGCCCAGGGCG	0.657													C|||	2163	0.431909	0.4054	0.2565	5008	,	,		15058	0.6349		0.2763	False		,,,				2504	0.5429				p.V245I		Atlas-SNP	.											.	ADAMTS2	190	.	0			c.G733A						PASS	.	C	ILE/VAL,ILE/VAL	1674,2732	508.4+/-367.0	314,1046,843	90	78	82		733,733	1.2	0.4	5	dbSNP_80	82	2555,6045	415.5+/-351.8	378,1799,2123	yes	missense,missense	ADAMTS2	NM_014244.4,NM_021599.2	29,29	692,2845,2966	TT,TC,CC		29.7093,37.9936,32.5158	benign,benign	245/1212,245/567	178634672	4229,8777	2203	4300	6503	SO:0001583	missense	9509	exon4			CTAGGACGCCCAG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.733G>A	5.37:g.178634672C>T	ENSP00000251582:p.Val245Ile	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_021599		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	867	0.39697802197802196	198	0.4024390243902439	99	0.27348066298342544	368	0.6433566433566433	202	0.26649076517150394	C	3.478	-0.106590	0.06924	0.379936	0.297093	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.59772	0.28;0.24	5.34	1.18	0.20946	.	0.836897	0.09859	N	0.746428	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.46925	-0.9156	9	0.18276	T	0.48	.	6.6881	0.23156	0.0:0.5061:0.1613:0.3326	rs398829;rs3733917;rs61577946;rs398829	245;245	O95450-2;O95450	.;ATS2_HUMAN	I	245	ENSP00000251582:V245I;ENSP00000274609:V245I	ENSP00000251582:V245I	V	-	1	0	ADAMTS2	178567278	0.000000	0.05858	0.426000	0.26672	0.034000	0.12701	-0.564000	0.05936	0.250000	0.21479	0.561000	0.74099	GTC	C|0.635;T|0.365	0.365	strong		0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178634672	C	T	178634672	3	4	22	1	0	0	0	0	1	0	0	0	265	536	19	1	3053	1	ADAMTS2	5	178634672	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	127603	178634672	2280588	3372	8480										
RUFY1	80230	hgsc.bcm.edu	37	chr5	179020622	179020622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaagtcaaagcgattaaTttacagatgtttcacaaagc	8	6	2	2	rs4701135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179020622T>C	ENST00000319449.4	+	11	1401	c.1389T>C	c.(1387-1389)aaT>aaC	p.N463N	RUFY1_ENST00000437570.2_Silent_p.N355N|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Silent_p.N355N|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	463					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCGATTAATTTACAGATGT	0.468										HNSCC(44;0.11)			T|||	369	0.0736821	0.0431	0.0793	5008	,	,		19915	0.0853		0.1054	False		,,,				2504	0.0665				p.N463N		Atlas-SNP	.											.	RUFY1	101	.	0			c.T1389C						PASS	.	T	,,	222,4184	133.7+/-170.0	7,208,1988	95	100	98		1065,1065,1389	-2.8	0.2	5	dbSNP_111	98	958,7642	208.3+/-249.8	60,838,3402	no	coding-synonymous,coding-synonymous,coding-synonymous	RUFY1	NM_001040451.1,NM_001040452.1,NM_025158.3	,,	67,1046,5390	CC,CT,TT		11.1395,5.0386,9.0727	,,	355/601,355/601,463/709	179020622	1180,11826	2203	4300	6503	SO:0001819	synonymous_variant	80230	exon11			GATTAATTTACAG	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1389T>C	5.37:g.179020622T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	139	67	0.482014	NM_025158	Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	CCDS4445.2	176|176	0.08058608058608059|0.08058608058608059	24|24	0.04878048780487805|0.04878048780487805	30|30	0.08287292817679558|0.08287292817679558	47|47	0.08216783216783216|0.08216783216783216	75|75	0.09894459102902374|0.09894459102902374	T|T	0.692|0.692	-0.794213|-0.794213	0.02862|0.02862	0.050386|0.050386	0.111395|0.111395	ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000508609	.|.	.|.	.|.	5.1|5.1	-2.79|-2.79	0.05841|0.05841	.|.	.|.	.|.	.|.	.|.	T|T	0.01387|0.01387	0.0045|0.0045	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999357027|0.9999999999357027	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41787|0.41787	-0.9489|-0.9489	3|3	.|.	.|.	.|.	-12.0535|-12.0535	13.6985|13.6985	0.62593|0.62593	0.0:0.6314:0.0:0.3686|0.0:0.6314:0.0:0.3686	rs4701135;rs4701135|rs4701135;rs4701135	.|.	.|.	.|.	L|T	141|252	.|.	.|.	F|I	+|+	1|2	0|0	RUFY1|RUFY1	178953228|178953228	0.004000|0.004000	0.15560|0.15560	0.243000|0.243000	0.24186|0.24186	0.022000|0.022000	0.10575|0.10575	-0.566000|-0.566000	0.05922|0.05922	-0.427000|-0.427000	0.07350|0.07350	0.459000|0.459000	0.35465|0.35465	TTT|ATT	T|0.912;C|0.088	0.088	strong		0.468	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		C	179020622	T	C	179020622	2	2	22	1	0	0	0	0	0	0	0	1	13738	1490	52	2		2	RUFY1	5	179020622	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	385950	179020622	1894638	3373	8481										
RUFY1	80230	hgsc.bcm.edu	37	chr5	179025789	179025789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacttcctctctactcagGatggagctgcaacaagtgga	10	11	2	0	rs72824522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179025789G>A	ENST00000319449.4	+	14	1740	c.1728G>A	c.(1726-1728)agG>agA	p.R576R	RUFY1_ENST00000437570.2_Silent_p.R468R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Silent_p.R468R|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	576					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTACTCAGGATGGAGCTGC	0.522										HNSCC(44;0.11)			G|||	361	0.0720847	0.0378	0.0764	5008	,	,		19945	0.0853		0.1064	False		,,,				2504	0.0665				p.R576R		Atlas-SNP	.											.	RUFY1	101	.	0			c.G1728A						PASS	.	G	,,	194,4212	122.9+/-160.3	6,182,2015	113	110	111		1404,1404,1728	-2.1	0	5	dbSNP_130	111	956,7644	208.4+/-249.9	60,836,3404	no	coding-synonymous,coding-synonymous,coding-synonymous	RUFY1	NM_001040451.1,NM_001040452.1,NM_025158.3	,,	66,1018,5419	AA,AG,GG		11.1163,4.4031,8.8421	,,	468/601,468/601,576/709	179025789	1150,11856	2203	4300	6503	SO:0001819	synonymous_variant	80230	exon14			ACTCAGGATGGAG	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1728G>A	5.37:g.179025789G>A		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	219	95	0.43379	NM_025158	Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	CCDS4445.2	173	0.07921245421245421	23	0.046747967479674794	28	0.07734806629834254	47	0.08216783216783216	75	0.09894459102902374	G	0.032	-1.325400	0.01309	0.044031	0.111163	ENSG00000176783	ENST00000502434	.	.	.	4.98	-2.1	0.07210	.	.	.	.	.	T	0.00608	0.0020	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.21143	-1.0254	3	.	.	.	-1.642	6.3823	0.21542	0.4772:0.1314:0.3914:0.0	.	.	.	.	N	254	.	.	D	+	1	0	RUFY1	178958395	0.235000	0.23794	0.001000	0.08648	0.019000	0.09904	0.424000	0.21330	-0.693000	0.05121	-0.459000	0.05422	GAT	G|0.912;A|0.088	0.088	strong		0.522	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		A	179025789	G	A	179025789	2	1	22	1	0	0	0	0	0	0	0	1	13738	1165	41	2		2	RUFY1	5	179025789	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5167	179025789	1889471	3374	8482										
SQSTM1	8878	hgsc.bcm.edu	37	chr5	179260661	179260661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcaaaagaagtggacccGtctacaggtgaactccagtc	9	11	3	2	rs10058037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179260661G>A	ENST00000389805.4	+	7	1222	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	SQSTM1_ENST00000376929.3_Silent_p.P264P|SQSTM1_ENST00000360718.5_Silent_p.P264P|SQSTM1_ENST00000402874.3_Silent_p.P264P|SQSTM1_ENST00000510187.1_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	348	Interaction with NTRK1. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTGGACCCGTCTACAGGTG	0.542													G|||	165	0.0329473	0.118	0.0086	5008	,	,		19610	0.001		0.001	False		,,,				2504	0.001				p.P348P		Atlas-SNP	.											SQSTM1,NS,carcinoma,+1,1	SQSTM1	30	1	0			c.G1044A						PASS	.	G	,,	415,3991	205.8+/-227.6	17,381,1805	93	87	89		792,792,1044	-10.5	0	5	dbSNP_119	89	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	,,	17,383,6103	AA,AG,GG		0.0233,9.419,3.2062	,,	264/357,264/357,348/441	179260661	417,12589	2203	4300	6503	SO:0001819	synonymous_variant	8878	exon7			GGACCCGTCTACA	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1044G>A	5.37:g.179260661G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_003900	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	CCDS34317.1																																																																																			G|0.960;A|0.040	0.040	strong		0.542	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			A	179260661	G	A	179260661	2	1	22	1	0	0	0	0	0	0	0	1	15129	1132	40	1		1	SQSTM1	5	179260661	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	234872	179260661	1654599	3375	8483										
C5orf45	51149	hgsc.bcm.edu	37	chr5	179285781	179285781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcgtagcacccgagaacGctgaagcgacgccatccctg	12	15	0	2	rs199537217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179285781G>A	ENST00000292586.6	-	1	106	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	CTC-241N9.1_ENST00000499601.2_5'Flank|C5orf45_ENST00000520698.1_Missense_Mutation_p.R6C|C5orf45_ENST00000376931.2_Missense_Mutation_p.R6C|C5orf45_ENST00000518235.1_Missense_Mutation_p.R6C|C5orf45_ENST00000518219.1_Missense_Mutation_p.R6C|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000403396.2_Missense_Mutation_p.A21V|C5orf45_ENST00000521333.1_Missense_Mutation_p.R6C	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	6										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ACCCGAGAACGCTGAAGCGAC	0.721													G|||	4	0.000798722	0.003	0.0	5008	,	,		14523	0.0		0.0	False		,,,				2504	0.0				p.R6C		Atlas-SNP	.											.	C5orf45	23	.	0			c.C16T						PASS	.	G	CYS/ARG,CYS/ARG	7,3989		0,7,1991	12	14	13		16,16	3.4	0	5		13	0,7610		0,0,3805	yes	missense,missense	C5orf45	NM_001017987.2,NM_016175.3	180,180	0,7,5796	AA,AG,GG		0.0,0.1752,0.0603	probably-damaging,probably-damaging	6/289,6/344	179285781	7,11599	1998	3805	5803	SO:0001583	missense	51149	exon1			GAGAACGCTGAAG		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.16C>T	5.37:g.179285781G>A	ENSP00000292586:p.Arg6Cys	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_016175	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	CCDS34319.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.22|13.22	2.172040|2.172040	0.38315|0.38315	0.001752|0.001752	0.0|0.0	ENSG00000161010|ENSG00000161010	ENST00000403396|ENST00000518235;ENST00000520698;ENST00000376931;ENST00000518219;ENST00000292586;ENST00000521333	T|T;D;D;D;T;D	0.28454|0.82619	1.61|3.13;-1.63;-1.63;-1.63;3.13;-1.63	3.43|3.43	3.43|3.43	0.39272|0.39272	.|.	.|1.497770	.|0.04096	.|N	.|0.312148	T|T	0.70945|0.70945	0.3282|0.3282	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.60160	.|0.968;0.968;0.987;0.986	.|B;B;B;B	.|0.43809	.|0.432;0.335;0.432;0.432	T|T	0.67841|0.67841	-0.5566|-0.5566	7|10	0.87932|0.87932	D|D	0|0	-1.0479|-1.0479	10.2343|10.2343	0.43273|0.43273	0.1009:0.0:0.8991:0.0|0.1009:0.0:0.8991:0.0	.|.	.|6;6;6;6	.|E7EMV9;B7Z1T6;E9PAK6;Q6NTE8	.|.;.;.;CE045_HUMAN	V|C	21|6	ENSP00000384599:A21V|ENSP00000430298:R6C;ENSP00000427849:R6C;ENSP00000366130:R6C;ENSP00000428460:R6C;ENSP00000292586:R6C;ENSP00000429651:R6C	ENSP00000384599:A21V|ENSP00000292586:R6C	A|R	-|-	2|1	0|0	C5orf45|C5orf45	179218387|179218387	0.016000|0.016000	0.18221|0.18221	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	1.350000|1.350000	0.34010|0.34010	2.211000|2.211000	0.71520|0.71520	0.561000|0.561000	0.74099|0.74099	GCG|CGT	G|0.999;A|0.001	0.001	strong		0.721	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		A	179285781	G	A	179285781	3	1	22	1	0	0	0	0	1	0	0	0	2304	1087	38	1	1043	1	C5orf45	5	179285781	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25120	179285781	1629479	3376	8484										
TBC1D9B	23061	hgsc.bcm.edu	37	chr5	179297262	179297262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaggcactcactcatcccTgtcacgaactccttgaagtt	7	14	3	1	rs407437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179297262T>C	ENST00000356834.3	-	16	2755	c.2718A>G	c.(2716-2718)acA>acG	p.T906T	TBC1D9B_ENST00000519746.1_Silent_p.T82T|TBC1D9B_ENST00000355235.3_Silent_p.T906T|TBC1D9B_ENST00000444477.2_Silent_p.T64T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	906	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTCATCCCTGTCACGAACT	0.602													C|||	622	0.124201	0.444	0.0432	5008	,	,		19694	0.0		0.005	False		,,,				2504	0.0				p.T906T		Atlas-SNP	.											.	TBC1D9B	157	.	0			c.A2718G						PASS	.	C	,	1539,2867	670.9+/-402.4	283,973,947	104	111	109		2718,2718	-10.3	0.5	5	dbSNP_80	109	15,8585	818.5+/-406.9	0,15,4285	no	coding-synonymous,coding-synonymous	TBC1D9B	NM_015043.3,NM_198868.2	,	283,988,5232	CC,CT,TT		0.1744,34.9296,11.9483	,	906/1234,906/1251	179297262	1554,11452	2203	4300	6503	SO:0001819	synonymous_variant	23061	exon16			CATCCCTGTCACG	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2718A>G	5.37:g.179297262T>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	CCDS43408.1																																																																																			T|0.882;C|0.118	0.118	strong		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		C	179297262	T	C	179297262	2	2	22	1	0	0	0	0	0	0	0	1	15625	1567	55	3		3	TBC1D9B	5	179297262	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11481	179297262	1617998	3377	8485										
TBC1D9B	23061	hgsc.bcm.edu	37	chr5	179297352	179297352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagaggtgtgtgggagccAcaggcccagggtgtcaggct	18	9	1	1	rs384668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179297352A>G	ENST00000356834.3	-	16	2665	c.2628T>C	c.(2626-2628)tgT>tgC	p.C876C	TBC1D9B_ENST00000444477.2_Silent_p.C34C|TBC1D9B_ENST00000355235.3_Silent_p.C876C|TBC1D9B_ENST00000519746.1_Silent_p.C52C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	876						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGGAGCCACAGGCCCAGG	0.617													G|||	623	0.124401	0.444	0.0432	5008	,	,		19003	0.001		0.005	False		,,,				2504	0.0				p.C876C		Atlas-SNP	.											.	TBC1D9B	157	.	0			c.T2628C						PASS	.	G	,	1543,2863	671.2+/-402.4	287,969,947	99	102	101		2628,2628	-7.3	0.3	5	dbSNP_80	101	15,8585	818.3+/-406.9	0,15,4285	no	coding-synonymous,coding-synonymous	TBC1D9B	NM_015043.3,NM_198868.2	,	287,984,5232	GG,GA,AA		0.1744,35.0204,11.9791	,	876/1234,876/1251	179297352	1558,11448	2203	4300	6503	SO:0001819	synonymous_variant	23061	exon16			GGAGCCACAGGCC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2628T>C	5.37:g.179297352A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	CCDS43408.1																																																																																			A|0.890;G|0.110	0.110	strong		0.617	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		G	179297352	A	G	179297352	2	3	22	1	0	0	0	0	0	0	0	1	15625	157	6	2		2	TBC1D9B	5	179297352	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	90	179297352	1617908	3378	8486										
TBC1D9B	23061	hgsc.bcm.edu	37	chr5	179300131	179300131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgacctcataggacacTttcaggagctcaaagatgtc	10	10	3	2	rs269469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179300131T>C	ENST00000356834.3	-	13	2341	c.2304A>G	c.(2302-2304)aaA>aaG	p.K768K	TBC1D9B_ENST00000444477.2_5'Flank|TBC1D9B_ENST00000355235.3_Silent_p.K768K|TBC1D9B_ENST00000519746.1_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	768						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATAGGACACTTTCAGGAGCT	0.612													T|||	624	0.124601	0.4455	0.0432	5008	,	,		17765	0.0		0.005	False		,,,				2504	0.0				p.K768K		Atlas-SNP	.											.	TBC1D9B	157	.	0			c.A2304G						PASS	.	T	,	1538,2866	480.4+/-358.8	282,974,946	56	56	56		2304,2304	-0.1	1	5	dbSNP_79	56	15,8585	9.1+/-34.3	0,15,4285	no	coding-synonymous,coding-synonymous	TBC1D9B	NM_015043.3,NM_198868.2	,	282,989,5231	CC,CT,TT		0.1744,34.9228,11.9425	,	768/1234,768/1251	179300131	1553,11451	2202	4300	6502	SO:0001819	synonymous_variant	23061	exon13			GGACACTTTCAGG	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2304A>G	5.37:g.179300131T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	139	60	0.431655	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	CCDS43408.1																																																																																			T|0.899;C|0.101	0.101	strong		0.612	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		C	179300131	T	C	179300131	2	2	22	1	0	0	0	0	0	0	0	1	15625	1606	56	3		3	TBC1D9B	5	179300131	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2779	179300131	1615129	3379	8487										
RNF130	55819	hgsc.bcm.edu	37	chr5	179393867	179393867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccatcctgaggaagaggTgagatccccgaagttcgaag	12	11	0	3	rs10060093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:179393867T>C	ENST00000261947.4	-	7	1487	c.1089A>G	c.(1087-1089)tcA>tcG	p.S363S	RNF130_ENST00000521389.1_Silent_p.S363S|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Silent_p.S363S	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGAAGAGGTGAGATCCCCG	0.582													C|||	123	0.0245607	0.0893	0.0029	5008	,	,		17689	0.002		0.001	False		,,,				2504	0.0				p.S363S	GBM(24;432 554 38471 39699 51728)	Atlas-SNP	.											.	RNF130	49	.	0			c.A1089G						PASS	.	C		291,4115	799.7+/-415.5	9,273,1921	100	91	94		1089	-6.4	0.4	5	dbSNP_119	94	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous	RNF130	NM_018434.4		9,277,6217	CC,CT,TT		0.0465,6.6046,2.2682		363/420	179393867	295,12711	2203	4300	6503	SO:0001819	synonymous_variant	55819	exon7			AAGAGGTGAGATC	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1089A>G	5.37:g.179393867T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	182	82	0.450549	NM_018434		Silent	SNP	ENST00000261947.4	37																																																																																				T|0.972;C|0.028	0.028	strong		0.582	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		C	179393867	T	C	179393867	2	2	22	1	0	0	0	0	0	0	0	1	13438	1683	59	2		2	RNF130	5	179393867	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93736	179393867	1521393	3380	8488										
FLT4	2324	hgsc.bcm.edu	37	chr5	180043439	180043439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcacagatcttcaccacGtcgctttccgacagcagaat	7	13	3	2	rs56127961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180043439G>A	ENST00000261937.6	-	23	3225	c.3147C>T	c.(3145-3147)gaC>gaT	p.D1049D	FLT4_ENST00000393347.3_Silent_p.D1049D|FLT4_ENST00000502649.1_Silent_p.D1049D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1049	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs56310180). {ECO:0000269|PubMed:17344846}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTCACCACGTCGCTTTCCG	0.622													G|||	72	0.014377	0.053	0.0014	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				p.D1049D	Colon(97;1075 1466 27033 27547 35871)	Atlas-SNP	.											.	FLT4	356	.	0			c.C3147T						PASS	.	G	,	183,4223	116.7+/-154.6	5,173,2025	126	115	118		3147,3147	-5.8	0.4	5	dbSNP_129	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	5,173,6325	AA,AG,GG		0.0,4.1534,1.407	,	1049/1299,1049/1364	180043439	183,12823	2203	4300	6503	SO:0001819	synonymous_variant	2324	exon23			CACCACGTCGCTT	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3147C>T	5.37:g.180043439G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	193	94	0.487047	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																			G|0.982;A|0.018	0.018	strong		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180043439	G	A	180043439	2	1	22	1	0	0	0	0	0	0	0	1	5944	1136	40	1		1	FLT4	5	180043439	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	649572	180043439	871821	3381	8489										
FLT4	2324	hgsc.bcm.edu	37	chr5	180058720	180058720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcaccggtgtcgatgacGtgtgactcctccgtgatgtt	12	11	1	3	rs150736691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180058720G>A	ENST00000261937.6	-	2	195	c.117C>T	c.(115-117)caC>caT	p.H39H	FLT4_ENST00000393347.3_Silent_p.H39H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.H39H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	39	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCGATGACGTGTGACTCCT	0.637																																					p.H39H	Colon(97;1075 1466 27033 27547 35871)	Atlas-SNP	.											.	FLT4	356	.	0			c.C117T						PASS	.	G	,	20,4384	27.2+/-55.0	0,20,2182	114	95	101		117,117	1.4	0	5	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	0,20,6482	AA,AG,GG		0.0,0.4541,0.1538	,	39/1299,39/1364	180058720	20,12984	2202	4300	6502	SO:0001819	synonymous_variant	2324	exon2			GATGACGTGTGAC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.117C>T	5.37:g.180058720G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	51	30	0.588235	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																			G|0.999;A|0.001	0.001	strong		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180058720	G	A	180058720	2	1	22	1	0	0	0	0	0	0	0	1	5944	1136	40	1		1	FLT4	5	180058720	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15281	180058720	856540	3382	8490										
OR2Y1	134083	hgsc.bcm.edu	37	chr5	180166141	180166141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctaccctgagtccctgccCctccatagtactttccacag	5	18	0	1	rs9329115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180166141C>T	ENST00000307832.2	-	1	958	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R306R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCCCTGCCCCTCCATAGTA	0.428													C|||	477	0.0952476	0.2383	0.0576	5008	,	,		18154	0.1012		0.006	False		,,,				2504	0.0143				p.R306R		Atlas-SNP	.											OR2Y1,NS,carcinoma,0,1	OR2Y1	49	1	1	Substitution - coding silent(1)	stomach(1)	c.G918A						PASS	.	C		1033,3373	368.6+/-318.7	129,775,1299	85	95	91		918	-4.2	0	5	dbSNP_119	91	150,8450	73.2+/-135.9	2,146,4152	no	coding-synonymous	OR2Y1	NM_001001657.1		131,921,5451	TT,TC,CC		1.7442,23.4453,9.0958		306/312	180166141	1183,11823	2203	4300	6503	SO:0001819	synonymous_variant	134083	exon1			CCTGCCCCTCCAT	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.918G>A	5.37:g.180166141C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	47	31	0.659574	NM_001001657	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	CCDS34323.1																																																																																			C|0.913;T|0.087	0.087	strong		0.428	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		T	180166141	C	T	180166141	2	4	22	1	0	0	0	0	0	0	0	1	11035	622	22	2		2	OR2Y1	5	180166141	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107421	180166141	749119	3383	8491										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180218668	180218668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcatagccctcccacgtcAgtgggggcgccaggtggaca	14	13	2	0	rs634501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180218668A>G	ENST00000446023.2	-	3	2054	c.1304T>C	c.(1303-1305)cTg>cCg	p.L435P	MGAT1_ENST00000427865.2_Missense_Mutation_p.L435P|MGAT1_ENST00000307826.4_Missense_Mutation_p.L435P|MGAT1_ENST00000393340.3_Missense_Mutation_p.L435P|MGAT1_ENST00000333055.3_Missense_Mutation_p.L435P	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	435			L -> P (in dbSNP:rs634501). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1827260, ECO:0000269|Ref.4}.		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCACGTCAGTGGGGGCGC	0.622													G|||	3671	0.733027	0.879	0.5576	5008	,	,		15523	0.5526		0.7455	False		,,,				2504	0.8333				p.L435P		Atlas-SNP	.											MGAT1,NS,carcinoma,0,1	MGAT1	48	1	0			c.T1304C						PASS	.	G	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU	3693,713	279.9+/-275.1	1556,581,66	38	41	40		1304,1304,1304,1304,1304	3.8	0.7	5	dbSNP_83	40	6294,2306	363.1+/-333.0	2306,1682,312	yes	missense,missense,missense,missense,missense	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	98,98,98,98,98	3862,2263,378	GG,GA,AA		26.814,16.1825,23.2124	benign,benign,benign,benign,benign	435/446,435/446,435/446,435/446,435/446	180218668	9987,3019	2203	4300	6503	SO:0001583	missense	4245	exon3			CACGTCAGTGGGG	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1304T>C	5.37:g.180218668A>G	ENSP00000404718:p.Leu435Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	1352	0.6190476190476191	356	0.7235772357723578	195	0.5386740331491713	293	0.5122377622377622	508	0.6701846965699209	G	0.413	-0.912114	0.02415	0.838175	0.73186	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.96	3.79	0.43588	.	0.498752	0.20868	N	0.084227	T	0.00012	0.0000	N	0.00926	-1.1	0.43347	P	0.0045960000000000445	B	0.02656	0.0	B	0.08055	0.003	T	0.41088	-0.9528	9	0.30854	T	0.27	-3.7269	7.0726	0.25187	0.1439:0.0:0.1564:0.6997	rs634501;rs17856087;rs60466398;rs634501	435	P26572	MGAT1_HUMAN	P	435;435;435;435;292;435	ENSP00000332073:L435P;ENSP00000311888:L435P;ENSP00000404718:L435P;ENSP00000377010:L435P;ENSP00000402838:L435P	ENSP00000311888:L435P	L	-	2	0	MGAT1	180151274	0.001000	0.12720	0.654000	0.29608	0.025000	0.11179	0.597000	0.24059	0.470000	0.27294	-1.059000	0.02297	CTG	A|0.273;G|0.727	0.727	strong		0.622	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		G	180218668	A	G	180218668	3	3	22	1	0	0	0	0	1	0	0	0	9542	188	7	3	37	3	MGAT1	5	180218668	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52527	180218668	696592	3384	8492										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180218820	180218820	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcccgtatactgcacccgCacctcccccagctccttccg	6	22	0	0	rs2070925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180218820C>A	ENST00000446023.2	-	3	1902	c.1152G>T	c.(1150-1152)gtG>gtT	p.V384V	MGAT1_ENST00000427865.2_Silent_p.V384V|MGAT1_ENST00000307826.4_Silent_p.V384V|MGAT1_ENST00000393340.3_Silent_p.V384V|MGAT1_ENST00000333055.3_Silent_p.V384V	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	384					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGCACCCGCACCTCCCCCA	0.622													C|||	622	0.124201	0.1369	0.0432	5008	,	,		18103	0.1984		0.0547	False		,,,				2504	0.1595				p.V384V		Atlas-SNP	.											.	MGAT1	48	.	0			c.G1152T						PASS	.	C	,,,,	474,3932	224.9+/-240.9	29,416,1758	76	66	69		1152,1152,1152,1152,1152	-0.4	1	5	dbSNP_96	69	311,8289	112.1+/-172.3	9,293,3998	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	,,,,	38,709,5756	AA,AC,CC		3.6163,10.7581,6.0357	,,,,	384/446,384/446,384/446,384/446,384/446	180218820	785,12221	2203	4300	6503	SO:0001819	synonymous_variant	4245	exon3			CACCCGCACCTCC	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1152G>T	5.37:g.180218820C>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	79	44	0.556962	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	CCDS4458.1																																																																																			C|0.928;A|0.072	0.072	strong		0.622	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		A	180218820	C	A	180218820	2	1	22	1	0	0	0	0	0	0	0	1	9542	697	25	4		4	MGAT1	5	180218820	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152	180218820	696440	3385	8493										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180218831	180218831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacccgcacctcccccaGctccttccggtcattggtcc	7	21	1	0	rs2070924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180218831G>A	ENST00000446023.2	-	3	1891	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	MGAT1_ENST00000393340.3_Silent_p.L381L|MGAT1_ENST00000427865.2_Silent_p.L381L|MGAT1_ENST00000307826.4_Silent_p.L381L|MGAT1_ENST00000333055.3_Silent_p.L381L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	381					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCCCCCAGCTCCTTCCGG	0.612													G|||	585	0.116813	0.0976	0.0418	5008	,	,		18311	0.2143		0.0537	False		,,,				2504	0.1605				p.L381L		Atlas-SNP	.											.	MGAT1	48	.	0			c.C1141T						PASS	.	G	,,,,	352,4054	183.6+/-211.2	15,322,1866	73	64	67		1141,1141,1141,1141,1141	4	1	5	dbSNP_96	67	307,8293	111.0+/-171.3	8,291,4001	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	,,,,	23,613,5867	AA,AG,GG		3.5698,7.9891,5.0669	,,,,	381/446,381/446,381/446,381/446,381/446	180218831	659,12347	2203	4300	6503	SO:0001819	synonymous_variant	4245	exon3			CCCCCAGCTCCTT	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1141C>T	5.37:g.180218831G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	68	37	0.544118	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	CCDS4458.1																																																																																			G|0.925;A|0.075	0.075	strong		0.612	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		A	180218831	G	A	180218831	2	1	22	1	0	0	0	0	0	0	0	1	9542	962	34	2		2	MGAT1	5	180218831	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	180218831	696429	3386	8494										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180219838	180219838	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgaggctggcggggtcgCcatcgagagcgctgactgag					rs61743256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180219838C>T	ENST00000446023.2	-	3	884	c.134G>A	c.(133-135)gGc>gAc	p.G45D	MGAT1_ENST00000427865.2_Missense_Mutation_p.G45D|MGAT1_ENST00000307826.4_Missense_Mutation_p.G45D|MGAT1_ENST00000393340.3_Missense_Mutation_p.G45D|MGAT1_ENST00000333055.3_Missense_Mutation_p.G45D	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	45					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGGGGTCGCCATCGAGAGC	0.677													T|||	81	0.0161741	0.0333	0.0029	5008	,	,		13792	0.001		0.0	False		,,,				2504	0.0348				p.G45D		Atlas-SNP	.											.	MGAT1	48	.	0			c.G134A						PASS	.	T	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	77,4251		0,77,2087	9	10	10		134,134,134,134,134	3.4	0	5	dbSNP_129	10	1,8491		0,1,4245	yes	missense,missense,missense,missense,missense	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	94,94,94,94,94	0,78,6332	TT,TC,CC		0.0118,1.7791,0.6084	benign,benign,benign,benign,benign	45/446,45/446,45/446,45/446,45/446	180219838	78,12742	2164	4246	6410	SO:0001583	missense	4245	exon3			GGGTCGCCATCGA	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.134G>A	5.37:g.180219838C>T	ENSP00000404718:p.Gly45Asp	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	82	32	0.390244	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	T	0.001	-3.025352	0.00041	0.017791	1.18E-4	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865;ENST00000504671;ENST00000506889;ENST00000514283;ENST00000512695;ENST00000506269;ENST00000514438;ENST00000502678;ENST00000513431	D;D;D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.71	3.41	0.39046	.	0.694372	0.14686	N	0.304491	T	0.44726	0.1307	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40346	-0.9568	10	0.08599	T	0.76	-8.3269	4.0209	0.09665	0.0:0.2398:0.1766:0.5835	.	45	P26572	MGAT1_HUMAN	D	45	ENSP00000332073:G45D;ENSP00000311888:G45D;ENSP00000404718:G45D;ENSP00000377010:G45D;ENSP00000402838:G45D;ENSP00000424891:G45D;ENSP00000425988:G45D;ENSP00000424382:G45D;ENSP00000427116:G45D;ENSP00000422906:G45D;ENSP00000421738:G45D;ENSP00000422588:G45D;ENSP00000423401:G45D	ENSP00000311888:G45D	G	-	2	0	MGAT1	180152444	0.000000	0.05858	0.020000	0.16555	0.026000	0.11368	0.260000	0.18424	0.282000	0.22254	-0.535000	0.04281	GGC	C|0.993;T|0.007	0.007	strong		0.677	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		T	180219838	C	T	180219838	3	4	22	1	0	0	0	0	1	0	0	0	9542	739	26	2	1207	2	MGAT1	5	180219838	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1007	180219838	695422	3387	8495	158	2								
MGAT1	4245	hgsc.bcm.edu	37	chr5	180219842	180219842	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctggcggggtcgccatCgagagcgctgactgagggtg					rs34344788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180219842C>T	ENST00000446023.2	-	3	880	c.130G>A	c.(130-132)Gat>Aat	p.D44N	MGAT1_ENST00000427865.2_Missense_Mutation_p.D44N|MGAT1_ENST00000307826.4_Missense_Mutation_p.D44N|MGAT1_ENST00000393340.3_Missense_Mutation_p.D44N|MGAT1_ENST00000333055.3_Missense_Mutation_p.D44N	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	44					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTCGCCATCGAGAGCGCTG	0.677													C|||	46	0.0091853	0.0333	0.0029	5008	,	,		14178	0.0		0.0	False		,,,				2504	0.0				p.D44N		Atlas-SNP	.											.	MGAT1	48	.	0			c.G130A						PASS	.	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	81,4255		0,81,2087	10	11	10		130,130,130,130,130	3	0	5	dbSNP_126	10	1,8491		0,1,4245	yes	missense,missense,missense,missense,missense	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	23,23,23,23,23	0,82,6332	TT,TC,CC		0.0118,1.8681,0.6392	benign,benign,benign,benign,benign	44/446,44/446,44/446,44/446,44/446	180219842	82,12746	2168	4246	6414	SO:0001583	missense	4245	exon3			CGCCATCGAGAGC	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.130G>A	5.37:g.180219842C>T	ENSP00000404718:p.Asp44Asn	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	C	0.065	-1.214664	0.01555	0.018681	1.18E-4	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865;ENST00000504671;ENST00000506889;ENST00000514283;ENST00000512695;ENST00000506269;ENST00000514438;ENST00000502678;ENST00000513431	T;T;T;T;T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.75	2.97	0.34412	.	0.746358	0.12755	N	0.441841	T	0.39682	0.1087	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26224	-1.0109	10	0.15952	T	0.53	-3.9185	10.5598	0.45140	0.0:0.8532:0.0:0.1468	rs34344788	44	P26572	MGAT1_HUMAN	N	44	ENSP00000332073:D44N;ENSP00000311888:D44N;ENSP00000404718:D44N;ENSP00000377010:D44N;ENSP00000402838:D44N;ENSP00000424891:D44N;ENSP00000425988:D44N;ENSP00000424382:D44N;ENSP00000427116:D44N;ENSP00000422906:D44N;ENSP00000421738:D44N;ENSP00000422588:D44N;ENSP00000423401:D44N	ENSP00000311888:D44N	D	-	1	0	MGAT1	180152448	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.842000	0.27627	0.691000	0.31592	-1.523000	0.00931	GAT	C|0.993;T|0.007	0.007	strong		0.677	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		T	180219842	C	T	180219842	3	4	22	1	0	0	0	0	1	0	0	0	9542	884	31	1	1211	1	MGAT1	5	180219842	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	180219842	695418	3388	8496	158	2								
BTNL8	79908	hgsc.bcm.edu	37	chr5	180335743	180335743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtccacctctacagggaCgggaaggaccagccatttat	12	11	1	0	rs112784813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180335743C>T	ENST00000340184.4	+	2	413	c.207C>T	c.(205-207)gaC>gaT	p.D69D	BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000231229.4_Silent_p.D69D|BTNL8_ENST00000400707.3_Intron|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Silent_p.D69D|BTNL8_ENST00000533815.2_5'Flank	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	69	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTACAGGGACGGGAAGGACC	0.537													C|||	806	0.160942	0.4614	0.0447	5008	,	,		19209	0.0992		0.006	False		,,,				2504	0.0603				p.D69D		Atlas-SNP	.											.	BTNL8	114	.	0			c.C207T						PASS	.	C	,,,,	1810,2596	531.1+/-373.1	389,1032,782	170	166	167		207,,207,,207	-5.5	0	5	dbSNP_132	167	36,8564	24.0+/-70.4	0,36,4264	no	coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_024850.2	,,,,	389,1068,5046	TT,TC,CC		0.4186,41.0803,14.1934	,,,,	69/501,,69/341,,69/348	180335743	1846,11160	2203	4300	6503	SO:0001819	synonymous_variant	79908	exon2			CAGGGACGGGAAG	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.207C>T	5.37:g.180335743C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	163	163	1	NM_001159708	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	CCDS43413.1																																																																																			C|0.866;T|0.134	0.134	strong		0.537	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		T	180335743	C	T	180335743	2	4	22	1	0	0	0	0	0	0	0	1	1567	535	19	1		1	BTNL8	5	180335743	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	115901	180335743	579517	3389	8497										
BTNL9	153579	hgsc.bcm.edu	37	chr5	180485374	180485374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagagcagcccaaaaataTgcaggtaactgaagccagga	12	8	0	2	rs60738644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180485374T>C	ENST00000327705.9	+	10	1209	c.978T>C	c.(976-978)taT>taC	p.Y326Y	BTNL9_ENST00000376842.3_Silent_p.Y327Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	326	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAAAAATATGCAGGTAACT	0.443													T|||	146	0.0291534	0.1044	0.0101	5008	,	,		19672	0.0		0.001	False		,,,				2504	0.0				p.Y326Y		Atlas-SNP	.											.	BTNL9	58	.	0			c.T978C						PASS	.	T		409,3997	201.1+/-224.2	21,367,1815	206	195	199		978	-0.5	0.8	5	dbSNP_129	199	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	BTNL9	NM_152547.4		21,370,6112	CC,CT,TT		0.0349,9.2828,3.1678		326/536	180485374	412,12594	2203	4300	6503	SO:0001819	synonymous_variant	153579	exon10			AAAATATGCAGGT	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.978T>C	5.37:g.180485374T>C		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	303	141	0.465347	NM_152547	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																			T|0.963;C|0.037	0.037	strong		0.443	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		C	180485374	T	C	180485374	2	2	22	1	0	0	0	0	0	0	0	1	1568	1471	51	2		2	BTNL9	5	180485374	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	149631	180485374	429886	3390	8498										
TRIM7	81786	hgsc.bcm.edu	37	chr5	180626927	180626927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacagctgggtgatctcaAccccgagctgggccaggttc	14	12	1	1	rs416574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180626927A>G	ENST00000274773.7	-	3	834	c.773T>C	c.(772-774)gTt>gCt	p.V258A	TRIM7_ENST00000393315.1_Missense_Mutation_p.V50A|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.V50A|TRIM7_ENST00000361809.3_Missense_Mutation_p.V50A|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.V76A|TRIM7_ENST00000504241.1_5'Flank	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	258			V -> A (in dbSNP:rs416574).			cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V258A(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GGTGATCTCAACCCCGAGCTG	0.607													G|||	2669	0.532947	0.9455	0.2709	5008	,	,		19203	0.4732		0.2893	False		,,,				2504	0.4734				p.V258A	Esophageal Squamous(128;2258 2308 35507 48647)	Atlas-SNP	.											TRIM7,NS,carcinoma,0,1	TRIM7	56	1	1	Substitution - Missense(1)	stomach(1)	c.T773C						PASS	.	G	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	3651,755	307.7+/-290.2	1516,619,68	75	63	67		773,149,149,149,227	-0.9	0	5	dbSNP_80	67	2492,6108	694.6+/-404.7	360,1772,2168	yes	missense,missense,missense,missense,missense	TRIM7	NM_203293.1,NM_203294.1,NM_203295.1,NM_203296.1,NM_203297.1	64,64,64,64,64	1876,2391,2236	GG,GA,AA		28.9767,17.1357,47.232	benign,benign,benign,benign,benign	258/512,50/304,50/304,50/304,76/330	180626927	6143,6863	2203	4300	6503	SO:0001583	missense	81786	exon3			ATCTCAACCCCGA	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.773T>C	5.37:g.180626927A>G	ENSP00000274773:p.Val258Ala	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_203293	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	CCDS4462.1	1022	0.46794871794871795	461	0.9369918699186992	96	0.26519337016574585	254	0.44405594405594406	211	0.2783641160949868	G	2.916	-0.224239	0.06061	0.828643	0.289767	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.34	-0.916	0.10489	.	0.865708	0.10169	N	0.707336	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06570	-1.0819	9	0.23302	T	0.38	.	2.2804	0.04112	0.1231:0.2807:0.3711:0.2251	rs416574;rs59917988;rs416574	258;76	Q9C029;Q9C029-4	TRIM7_HUMAN;.	A	258;50;50;76;50	ENSP00000274773:V258A;ENSP00000376991:V50A;ENSP00000355059:V50A;ENSP00000376994:V76A;ENSP00000391458:V50A	ENSP00000274773:V258A	V	-	2	0	TRIM7	180559533	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.072000	0.11486	-0.899000	0.03901	-1.794000	0.00625	GTT	A|0.532;G|0.468	0.468	strong		0.607	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		G	180626927	A	G	180626927	3	3	22	1	0	0	0	0	1	0	0	0	16540	43	2	2	782	2	TRIM7	5	180626927	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	141553	180626927	288333	3391	8499										
TRIM41	90933	hgsc.bcm.edu	37	chr5	180661274	180661274	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcggcaggaggttgctgaCcatcccaagcgcttctcggc	14	14	1	1	rs78013120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180661274C>G	ENST00000315073.5	+	6	2102	c.1392C>G	c.(1390-1392)gaC>gaG	p.D464E	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Missense_Mutation_p.D464E	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	464	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTTGCTGACCATCCCAAGC	0.726													C|||	23	0.00459265	0.0174	0.0	5008	,	,		8455	0.0		0.0	False		,,,				2504	0.0				p.D464E		Atlas-SNP	.											.	TRIM41	96	.	0			c.C1392G						PASS	.	C	GLU/ASP,GLU/ASP	72,4296		0,72,2112	21	24	23		1392,1392	3.1	1	5	dbSNP_133	23	0,8498		0,0,4249	yes	missense,missense	TRIM41	NM_033549.3,NM_201627.1	45,45	0,72,6361	GG,GC,CC		0.0,1.6484,0.5596	possibly-damaging,possibly-damaging	464/631,464/519	180661274	72,12794	2184	4249	6433	SO:0001583	missense	90933	exon6			TGCTGACCATCCC	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1392C>G	5.37:g.180661274C>G	ENSP00000320869:p.Asp464Glu	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	50	28	0.56	NM_201627	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	CCDS4466.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	18.88	3.716930	0.68844	0.016484	0.0	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073;ENST00000438174	T;T;T	0.14391	2.51;2.51;2.51	4.97	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.183072	0.38837	N	0.001552	T	0.09247	0.0228	M	0.62088	1.915	0.26095	N	0.980893	P;B	0.51791	0.948;0.001	P;B	0.48627	0.584;0.005	T	0.04386	-1.0955	10	0.48119	T	0.1	.	7.2565	0.26179	0.1752:0.7342:0.0:0.0907	.	464;464	Q8WV44;Q8WV44-2	TRI41_HUMAN;.	E	174;464;464;149	ENSP00000426803:D174E;ENSP00000336749:D464E;ENSP00000320869:D464E	ENSP00000320869:D464E	D	+	3	2	TRIM41	180593880	0.827000	0.29292	1.000000	0.80357	0.981000	0.71138	1.423000	0.34837	0.645000	0.30675	0.557000	0.71058	GAC	C|0.995;G|0.005	0.005	strong		0.726	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		G	180661274	C	G	180661274	3	3	22	1	0	0	0	0	1	0	0	0	16513	506	18	4	1414	4	TRIM41	5	180661274	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34347	180661274	253986	3392	8500										
GNB2L1	10399	hgsc.bcm.edu	37	chr5	180665123	180665123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgatgctggggcctgtGgcagcacacagccagtagcg	14	11	1	1	rs11540200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr5:180665123G>A	ENST00000512805.1	-	6	1161	c.753C>T	c.(751-753)gcC>gcT	p.A251A	GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000376817.4_Silent_p.A207A|GNB2L1_ENST00000511900.1_Silent_p.A203A|GNB2L1_ENST00000514455.1_Silent_p.A35A|GNB2L1_ENST00000505461.1_5'Flank|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	251					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TGGGGCCTGTGGCAGCACACA	0.522													G|||	104	0.0207668	0.0772	0.0029	5008	,	,		19698	0.0		0.0	False		,,,				2504	0.0				p.A251A		Atlas-SNP	.											.	GNB2L1	22	.	0			c.C753T						PASS	.	G		300,4106	161.4+/-193.6	13,274,1916	140	125	130		753	2.2	1	5	dbSNP_120	130	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GNB2L1	NM_006098.4		13,277,6213	AA,AG,GG		0.0349,6.8089,2.3297		251/318	180665123	303,12703	2203	4300	6503	SO:0001819	synonymous_variant	10399	exon6			GCCTGTGGCAGCA	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.753C>T	5.37:g.180665123G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	168	75	0.446429	NM_006098	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	37	CCDS34324.1	38|38	0.0173992673992674|0.0173992673992674	38|38	0.07723577235772358|0.07723577235772358	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.424|9.424	1.083839|1.083839	0.20309|0.20309	0.068089|0.068089	3.49E-4|3.49E-4	ENSG00000204628|ENSG00000204628	ENST00000509148;ENST00000502905;ENST00000504128|ENST00000507756;ENST00000509535	.|.	.|.	.|.	5.91|5.91	2.24|2.24	0.28232|0.28232	.|.	.|.	.|.	.|.	.|.	T|T	0.04770|0.04770	0.0129|0.0129	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.01630|0.01630	-1.1308|-1.1308	4|4	.|.	.|.	.|.	-15.4052|-15.4052	4.7881|4.7881	0.13234|0.13234	0.2979:0.0:0.5646:0.1376|0.2979:0.0:0.5646:0.1376	rs11540200;rs17851237|rs11540200;rs17851237	.|.	.|.	.|.	Y|L	25;132;158|182;109	.|.	.|.	H|P	-|-	1|2	0|0	GNB2L1|GNB2L1	180597729|180597729	0.998000|0.998000	0.40836|0.40836	0.973000|0.973000	0.42090|0.42090	0.780000|0.780000	0.44128|0.44128	0.478000|0.478000	0.22212|0.22212	0.142000|0.142000	0.18901|0.18901	-0.812000|-0.812000	0.03155|0.03155	CAC|CCA	G|0.977;A|0.023	0.023	strong		0.522	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		A	180665123	G	A	180665123	2	1	22	1	0	0	0	0	0	0	0	1	6518	1335	47	2		2	GNB2L1	5	180665123	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3849	180665123	250137	3393	8501										
IRF4	3662	hgsc.bcm.edu	37	chr6	393330	393330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggaagcacgcgggcaagCaggactacaaccgcgaggag	15	12	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:393330C>A	ENST00000380956.4	+	2	304	c.178C>A	c.(178-180)Cag>Aag	p.Q60K	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	60					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q60K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGCGGGCAAGCAGGACTACAA	0.692			T	IGH@	MM																																p.Q60K		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	IRF4_ENST00000380956,NS,lymphoid_neoplasm,-2,2	IRF4	65	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C178A						PASS	.						29	26	27					6																	393330		2201	4300	6501	SO:0001583	missense	3662	exon2			GGCAAGCAGGACT	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.178C>A	6.37:g.393330C>A	ENSP00000370343:p.Gln60Lys	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	75	31	0.413333	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402639	0.96030	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97505	-4.41	4.58	4.58	0.56647	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.115641	0.64402	D	0.000010	D	0.97297	0.9116	L	0.53561	1.675	0.80722	D	1	P;P;D	0.69078	0.852;0.624;0.997	P;P;D	0.74348	0.813;0.61;0.983	D	0.96246	0.9179	10	0.30854	T	0.27	-22.6787	17.6301	0.88104	0.0:1.0:0.0:0.0	.	60;60;60	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	K	60;90	ENSP00000370343:Q60K	ENSP00000370343:Q60K	Q	+	1	0	IRF4	338330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.909000	0.75735	2.399000	0.81585	0.306000	0.20318	CAG	.	.	none		0.692	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	393330	C	A	393330	3	1	22	1	0	0	0	0	1	0	0	0	7832	711	25	4	180	4	IRF4	6	393330	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10		393330	170721737	3394	8502										
FOXC1	2296	hgsc.bcm.edu	37	chr6	1611085	1611085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctctcgctcaacgagtgCttcgtcaaggtgccgcgcga	11	14	3	0	rs2230096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:1611085C>T	ENST00000380874.2	+	1	405	c.405C>T	c.(403-405)tgC>tgT	p.C135C		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	135					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCAACGAGTGCTTCGTCAAGG	0.602													c|||	160	0.0319489	0.115	0.0101	5008	,	,		11123	0.0		0.001	False		,,,				2504	0.0				p.C135C	Pancreas(133;719 1821 3197 26645 35015)	Atlas-SNP	.											.	FOXC1	19	.	0			c.C405T						PASS	.	C		454,3952	215.1+/-234.2	26,402,1775	85	94	91		405	3.7	1	6	dbSNP_98	91	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	FOXC1	NM_001453.2		26,406,6071	TT,TC,CC		0.0465,10.3041,3.5215		135/554	1611085	458,12548	2203	4300	6503	SO:0001819	synonymous_variant	2296	exon1			CGAGTGCTTCGTC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.405C>T	6.37:g.1611085C>T		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	295	130	0.440678	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	CCDS4473.1																																																																																			C|0.970;T|0.030	0.030	strong		0.602	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			T	1611085	C	T	1611085	2	4	22	1	0	0	0	0	0	0	0	1	5994	805	28	2		2	FOXC1	6	1611085	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1217755	1611085	169503982	3395	8503										
FOXC1	2296	hgsc.bcm.edu	37	chr6	1612243	1612243	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatcggcttgaacaactcTccagtgaacgggaatagtag	12	8	1	2	rs73406891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:1612243T>G	ENST00000380874.2	+	1	1563	c.1563T>G	c.(1561-1563)tcT>tcG	p.S521S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	521					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TGAACAACTCTCCAGTGAACG	0.602													T|||	160	0.0319489	0.115	0.0101	5008	,	,		9192	0.0		0.001	False		,,,				2504	0.0				p.S521S	Pancreas(133;719 1821 3197 26645 35015)	Atlas-SNP	.											.	FOXC1	19	.	0			c.T1563G						PASS	.	T		452,3950	202.1+/-225.0	23,406,1772	64	47	52		1563	-4.6	1	6	dbSNP_130	52	4,8594	1.2+/-3.3	0,4,4295	no	coding-synonymous	FOXC1	NM_001453.2		23,410,6067	GG,GT,TT		0.0465,10.2681,3.5077		521/554	1612243	456,12544	2201	4299	6500	SO:0001819	synonymous_variant	2296	exon1			CAACTCTCCAGTG	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1563T>G	6.37:g.1612243T>G		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	61	24	0.393443	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	CCDS4473.1																																																																																			T|0.963;G|0.037	0.037	strong		0.602	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			G	1612243	T	G	1612243	2	3	22	1	0	0	0	0	0	0	0	1	5994	1538	54	5		5	FOXC1	6	1612243	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1158	1612243	169502824	3396	8504										
C6orf195	154386	hgsc.bcm.edu	37	chr6	2624053	2624053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaggtcaagtggatagaTcatcagggaccacaggaaag	14	6	3	2	rs17135340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:2624053T>A	ENST00000296847.3	-	3	527	c.4A>T	c.(4-6)Atc>Ttc	p.I2F		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	2			I -> F (in dbSNP:rs17135340). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGTGGATAGATCATCAGGGAC	0.458													T|||	757	0.151158	0.0613	0.1182	5008	,	,		21846	0.2679		0.1909	False		,,,				2504	0.135				p.I2F		Atlas-SNP	.											.	C6orf195	10	.	0			c.A4T						PASS	.	T	PHE/ILE	312,3514		15,282,1616	39	39	39		4	-2.3	0	6	dbSNP_123	39	1642,6620		167,1308,2656	yes	missense	C6orf195	NM_152554.2	21	182,1590,4272	AA,AT,TT		19.8741,8.1547,16.1648	possibly-damaging	2/128	2624053	1954,10134	1913	4131	6044	SO:0001583	missense	154386	exon3			GATAGATCATCAG	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.4A>T	6.37:g.2624053T>A	ENSP00000296847:p.Ile2Phe	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	106	59	0.556604	NM_152554	Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	ENST00000296847.3	37	CCDS43416.1	389	0.17811355311355312	26	0.052845528455284556	51	0.1408839779005525	156	0.2727272727272727	156	0.20580474934036938	T	2.746	-0.261142	0.05791	0.081547	0.198741	ENSG00000164385	ENST00000296847	T	0.38401	1.14	1.14	-2.28	0.06826	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.80722	P	0.0	P	0.42078	0.77	B	0.27262	0.078	T	0.25916	-1.0118	8	0.87932	D	0	.	2.3353	0.04246	0.0:0.2349:0.2998:0.4653	rs17135340;rs52801339;rs17135340	2	Q96MT4	CF195_HUMAN	F	2	ENSP00000296847:I2F	ENSP00000296847:I2F	I	-	1	0	C6orf195	2569052	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-1.464000	0.02359	-0.811000	0.04369	0.402000	0.26972	ATC	A|0.169;N|0.000	0.169	strong		0.458	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		A	2624053	T	A	2624053	3	1	22	1	0	0	0	0	1	0	0	0	2350	1435	50	5	383	5	C6orf195	6	2624053	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1011810	2624053	168491014	3397	8505										
NQO2	4835	hgsc.bcm.edu	37	chr6	3010298	3010298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatgcacaccaggaacccaAgtctttcaacggatccttga	7	13	2	1	rs28383623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:3010298A>G	ENST00000338130.2	+	6	759	c.47A>G	c.(46-48)aAg>aGg	p.K16R	NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380455.4_Missense_Mutation_p.K16R|NQO2_ENST00000380441.1_Missense_Mutation_p.K16R|NQO2_ENST00000380430.1_Missense_Mutation_p.K16R|NQO2_ENST00000380454.4_Missense_Mutation_p.K16R			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	16			K -> R (in dbSNP:rs28383623). {ECO:0000269|Ref.4}.		memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CAGGAACCCAAGTCTTTCAAC	0.443													G|||	153	0.0305511	0.0582	0.0288	5008	,	,		18599	0.002		0.0497	False		,,,				2504	0.0041				p.K16R		Atlas-SNP	.											.	NQO2	21	.	0			c.A47G						PASS	.	G	ARG/LYS	237,4169	804.9+/-415.8	4,229,1970	117	103	108		47	-7.5	0	6	dbSNP_125	108	324,8276	804.9+/-407.3	11,302,3987	yes	missense	NQO2	NM_000904.3	26	15,531,5957	GG,GA,AA		3.7674,5.379,4.3134	benign	16/232	3010298	561,12445	2203	4300	6503	SO:0001583	missense	4835	exon3			AACCCAAGTCTTT	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.47A>G	6.37:g.3010298A>G	ENSP00000337773:p.Lys16Arg	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	158	77	0.487342	NM_000904	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	80	0.03663003663003663	36	0.07317073170731707	9	0.024861878453038673	0	0.0	35	0.04617414248021108	G	3.877	-0.026748	0.07589	0.05379	0.037674	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.10005	3.12;2.92;2.92;3.12;3.12;3.12;3.12;3.12	5.63	-7.48	0.01360	Flavodoxin-like fold (1);	0.609607	0.18974	N	0.126042	T	0.00815	0.0027	N	0.05510	-0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.36890	-0.9729	10	0.02654	T	1	-6.783	10.0735	0.42347	0.604:0.2762:0.1197:0.0	rs28383623;rs28383623	16;63	P16083;Q59EN2	NQO2_HUMAN;.	R	16;16;63;16;16;16;16;16;16	ENSP00000406951:K16R;ENSP00000369839:K16R;ENSP00000380829:K16R;ENSP00000337773:K16R;ENSP00000369806:K16R;ENSP00000369822:K16R;ENSP00000369821:K16R;ENSP00000369795:K16R	ENSP00000337773:K16R	K	+	2	0	NQO2	2955297	0.000000	0.05858	0.010000	0.14722	0.014000	0.08584	-1.029000	0.03585	-1.518000	0.01778	-0.213000	0.12676	AAG	A|0.960;G|0.040	0.040	strong		0.443	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			G	3010298	A	G	3010298	3	3	22	1	0	0	0	0	1	0	0	0	10612	72	3	3	53	3	NQO2	6	3010298	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	386245	3010298	168104769	3398	8506										
NQO2	4835	hgsc.bcm.edu	37	chr6	3017138	3017138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaaactagcgctcctttcCgtaaccacgggaggcacggc	12	13	0	0	rs1130428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:3017138C>T	ENST00000338130.2	+	9	1150	c.438C>T	c.(436-438)tcC>tcT	p.S146S	NQO2_ENST00000380455.4_Silent_p.S146S|NQO2_ENST00000380454.4_Silent_p.S108S|NQO2_ENST00000380441.1_Silent_p.S108S|NQO2_ENST00000380430.1_Silent_p.S146S			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	146					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CGCTCCTTTCCGTAACCACGG	0.552													c|||	155	0.0309505	0.0613	0.0288	5008	,	,		19744	0.0		0.0497	False		,,,				2504	0.0041				p.S146S		Atlas-SNP	.											.	NQO2	21	.	0			c.C438T						PASS	.	T		239,4167	140.4+/-175.9	5,229,1969	130	99	110		438	-10.8	0	6	dbSNP_86	110	324,8276	113.9+/-173.9	11,302,3987	no	coding-synonymous	NQO2	NM_000904.3		16,531,5956	TT,TC,CC		3.7674,5.4244,4.3288		146/232	3017138	563,12443	2203	4300	6503	SO:0001819	synonymous_variant	4835	exon6			CCTTTCCGTAACC	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.438C>T	6.37:g.3017138C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	55	32	0.581818	NM_000904	B2R492|Q5TD04	Silent	SNP	ENST00000338130.2	37	CCDS4481.1																																																																																			C|0.960;T|0.040	0.040	strong		0.552	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			T	3017138	C	T	3017138	2	4	22	1	0	0	0	0	0	0	0	1	10612	639	23	1		1	NQO2	6	3017138	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6840	3017138	168097929	3399	8507										
BPHL	670	hgsc.bcm.edu	37	chr6	3152760	3152760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcaaacacaacctgcattTgcgttttgcagatgaattca	8	9	1	2	rs2231370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:3152760T>C	ENST00000380379.5	+	7	876	c.827T>C	c.(826-828)tTg>tCg	p.L276S	BPHL_ENST00000434640.1_Missense_Mutation_p.L259S|BPHL_ENST00000380375.3_Missense_Mutation_p.L259S|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000464040.1_3'UTR|BPHL_ENST00000380368.2_3'UTR|TUBB2A_ENST00000489942.1_5'Flank	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	276					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AACCTGCATTTGCGTTTTGCA	0.438													T|||	250	0.0499201	0.1747	0.0173	5008	,	,		21159	0.001		0.005	False		,,,				2504	0.001				p.L276S		Atlas-SNP	.											.	BPHL	32	.	0			c.T827C						PASS	.	T	SER/LEU	588,3818	261.0+/-264.0	42,504,1657	168	153	158		827	4.7	0.1	6	dbSNP_98	158	31,8569	21.0+/-64.5	0,31,4269	yes	missense	BPHL	NM_004332.2	145	42,535,5926	CC,CT,TT		0.3605,13.3454,4.7593	probably-damaging	276/292	3152760	619,12387	2203	4300	6503	SO:0001583	missense	670	exon7			TGCATTTGCGTTT	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"breast epithelial mucin-associated antigen"	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.827T>C	6.37:g.3152760T>C	ENSP00000369739:p.Leu276Ser	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	168	84	0.5	NM_004332	Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	CCDS4483.2	104	0.047619047619047616	92	0.18699186991869918	5	0.013812154696132596	1	0.0017482517482517483	6	0.0079155672823219	T	19.10	3.761514	0.69763	0.133454	0.003605	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380379	T;T;T	0.72051	-0.62;-0.62;-0.62	5.9	4.74	0.60224	.	0.069235	0.64402	D	0.000014	T	0.77061	0.4075	M	0.73430	2.235	0.22354	P	0.999176454	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.988	T	0.80801	-0.1220	9	0.56958	D	0.05	-17.8489	11.8569	0.52441	0.0:0.0677:0.0:0.9323	rs2231370;rs52831698;rs2231370	276;259	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	S	259;259;276	ENSP00000390472:L259S;ENSP00000369734:L259S;ENSP00000369739:L276S	ENSP00000369734:L259S	L	+	2	0	BPHL	3097759	0.996000	0.38824	0.080000	0.20451	0.991000	0.79684	5.961000	0.70356	1.064000	0.40671	0.528000	0.53228	TTG	T|0.949;C|0.051	0.051	strong		0.438	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			C	3152760	T	C	3152760	3	2	22	1	0	0	0	0	1	0	0	0	1489	1821	63	2	853	2	BPHL	6	3152760	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	135622	3152760	167962307	3400	8508										
TUBB2A	7280	hgsc.bcm.edu	37	chr6	3154882	3154882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtggacagagagggtggCgttgtagggctccaccaccg	17	10	0	1	rs76334433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:3154882C>T	ENST00000333628.3	-	4	615	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	185					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGAGGGTGGCGTTGTAGGGC	0.552																																					p.A185T		Atlas-SNP	.											TUBB2A,NS,carcinoma,0,1	TUBB2A	23	1	0			c.G553A						scavenged	.						169	84	112					6																	3154882		2203	4299	6502	SO:0001583	missense	7280	exon4			GGGTGGCGTTGTA	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.553G>A	6.37:g.3154882C>T	ENSP00000369703:p.Ala185Thr	Somatic	302	1	0.00331126		WXS	Illumina HiSeq	Phase_I	499	69	0.138277	NM_001069	Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543071	0.45280	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.74526	-0.85	5.01	5.01	0.66863	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	U	0.000054	T	0.62780	0.2456	L	0.52206	1.635	0.80722	D	1	P;B;B	0.36086	0.536;0.153;0.026	B;B;B	0.34242	0.178;0.118;0.118	T	0.71377	-0.4611	10	0.87932	D	0	.	18.6816	0.91548	0.0:1.0:0.0:0.0	.	185;185;185	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	T	185;95	ENSP00000369703:A185T	ENSP00000369703:A185T	A	-	1	0	TUBB2A	3099881	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.629000	0.83207	2.491000	0.84063	0.650000	0.86243	GCC	C|0.998;T|0.002	0.002	strong		0.552	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		T	3154882	C	T	3154882	3	4	22	1	0	0	0	0	1	0	0	0	16751	768	27	1	788	1	TUBB2A	6	3154882	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2122	3154882	167960185	3401	8509										
TUBB2B	347733	hgsc.bcm.edu	37	chr6	3225759	3225759	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccaccagctggtggacCgagagggtggcgttgtaggg	17	8	0	1	rs148302841		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:3225759C>A	ENST00000259818.7	-	4	755	c.564G>T	c.(562-564)tcG>tcT	p.S188S	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	188					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCTGGTGGACCGAGAGGGTGG	0.577																																					p.S188S		Atlas-SNP	.											TUBB2B,caecum,carcinoma,-1,1	TUBB2B	25	1	0			c.G564T						scavenged	.						32	31	31					6																	3225759		1633	3399	5032	SO:0001819	synonymous_variant	347733	exon4			GTGGACCGAGAGG	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.564G>T	6.37:g.3225759C>A		Somatic	528	2	0.00378788		WXS	Illumina HiSeq	Phase_I	562	91	0.161922	NM_178012	A8K068	Silent	SNP	ENST00000259818.7	37	CCDS4485.1																																																																																			C|0.750;A|0.250	0.250	weak		0.577	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		A	3225759	C	A	3225759	2	1	22	1	0	0	0	0	0	0	0	1	16752	639	23	4		4	TUBB2B	6	3225759	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70877	3225759	167889308	3402	8510										
PECI	10455	hgsc.bcm.edu	37	chr6	4119492	4119492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttggcctaggtgactaaaTggtgtatgaaatgttgcctg	12	6	0	2	rs10708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4119492T>C	ENST00000380118.3	-	8	849	c.813A>G	c.(811-813)ccA>ccG	p.P271P	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Silent_p.P104P|ECI2_ENST00000380125.2_Silent_p.P241P|ECI2_ENST00000361538.2_Silent_p.P241P|ECI2_ENST00000465828.1_Silent_p.P241P|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	271	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GGTGACTAAATGGTGTATGAA	0.378													T|||	214	0.0427316	0.1536	0.0159	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.0				p.P271P		Atlas-SNP	.											.	ECI2	59	.	0			c.A813G						PASS	.	T	,,,	590,3816	258.9+/-262.7	51,488,1664	77	79	78		,723,723,813	-5.8	0.7	6	dbSNP_130	78	6,8594	5.0+/-18.6	0,6,4294	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	ECI2,C6orf201	NM_001085401.1,NM_001166010.1,NM_006117.2,NM_206836.2	,,,	51,494,5958	CC,CT,TT		0.0698,13.3908,4.5825	,,,	,241/365,241/365,271/395	4119492	596,12410	2203	4300	6503	SO:0001819	synonymous_variant	10455	exon8			ACTAAATGGTGTA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.813A>G	6.37:g.4119492T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_206836	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	CCDS43420.2																																																																																			T|0.962;C|0.038	0.038	strong		0.378	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		C	4119492	T	C	4119492	2	2	22	1	0	0	0	0	0	0	0	1	11716	1451	51	2		2	PECI	6	4119492	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	893733	4119492	166995575	3403	8511										
C6orf201	404220	hgsc.bcm.edu	37	chr6	4122279	4122279	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctaaagggacacaaacAggtacatgcaaagttgccag	10	9	0	0	rs17137678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4122279A>G	ENST00000380175.4	+	4	1146	c.381A>G	c.(379-381)acA>acG	p.T127T	C6orf201_ENST00000333388.5_Splice_Site_p.T130T|C6orf201_ENST00000430835.2_Splice_Site_p.T127T|ECI2_ENST00000413766.2_Intron|ECI2_ENST00000380125.2_Intron|ECI2_ENST00000380118.3_Intron|ECI2_ENST00000361538.2_Intron|ECI2_ENST00000465828.1_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	127										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGACACAAACAGGTACATGCA	0.418													A|||	125	0.0249601	0.09	0.0086	5008	,	,		15796	0.0		0.0	False		,,,				2504	0.0				p.T127T		Atlas-SNP	.											.	C6orf201	17	.	0			c.A381G						PASS	.	A	,,,	308,3458		23,262,1598	63	61	62		381,,,	3.2	0.2	6	dbSNP_123	62	4,8226		0,4,4111	yes	coding-synonymous-near-splice,intron,intron,intron	ECI2,C6orf201	NM_001085401.1,NM_001166010.1,NM_006117.2,NM_206836.2	,,,	23,266,5709	GG,GA,AA		0.0486,8.1784,2.6009	,,,	127/141,,,	4122279	312,11684	1883	4115	5998	SO:0001630	splice_region_variant	404220	exon4			ACAAACAGGTACA	BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.382+1A>G	6.37:g.4122279A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	210	114	0.542857	NM_001085401	A6NLI6|Q6NXN5	Silent	SNP	ENST00000380175.4	37	CCDS43419.1																																																																																			A|0.978;G|0.022	0.022	strong		0.418	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2	NM_001085401	Silent	G	4122279	A	G	4122279	5	3	22	1	0	0	0	0	0	0	1	0	2351	202	7	3	391	3	C6orf201	6	4122279	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2787	4122279	166992788	3404	8512										
CDYL	9425	hgsc.bcm.edu	37	chr6	4892381	4892381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccgttaagagcaggacCgcagtggacggctttcagag	14	11	1	2	rs734783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4892381C>T	ENST00000328908.5	+	4	752	c.621C>T	c.(619-621)acC>acT	p.T207T	CDYL_ENST00000343762.5_Silent_p.T21T|CDYL_ENST00000397588.3_Silent_p.T153T|CDYL_ENST00000449732.2_Silent_p.T21T|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	207	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGAGCAGGACCGCAGTGGACG	0.587													C|||	250	0.0499201	0.18	0.0159	5008	,	,		19239	0.0		0.001	False		,,,				2504	0.0				p.T153T		Atlas-SNP	.											.	CDYL	74	.	0			c.C459T						PASS	.	C	,,	664,3742	284.3+/-277.5	59,546,1598	66	67	67		63,63,459	3.8	0.8	6	dbSNP_86	67	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	,,	59,566,5878	TT,TC,CC		0.2326,15.0704,5.2591	,,	21/413,21/413,153/545	4892381	684,12322	2203	4300	6503	SO:0001819	synonymous_variant	9425	exon2			CAGGACCGCAGTG	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.621C>T	6.37:g.4892381C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_004824	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																				C|0.956;T|0.044	0.044	strong		0.587	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		T	4892381	C	T	4892381	2	4	22	1	0	0	0	0	0	0	0	1	3185	639	23	1		1	CDYL	6	4892381	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	770102	4892381	166222686	3405	8513										
CDYL	9425	hgsc.bcm.edu	37	chr6	4943846	4943846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtcaatggcccagccatTggtctaggagcatctatatt	10	10	3	0	rs11963443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4943846T>C	ENST00000328908.5	+	7	1481	c.1350T>C	c.(1348-1350)atT>atC	p.I450I	CDYL_ENST00000343762.5_Silent_p.I264I|CDYL_ENST00000397588.3_Silent_p.I396I|CDYL_ENST00000449732.2_Silent_p.I264I|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	450					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GCCCAGCCATTGGTCTAGGAG	0.398													T|||	508	0.101438	0.3616	0.0288	5008	,	,		18292	0.0		0.0089	False		,,,				2504	0.001				p.I396I		Atlas-SNP	.											.	CDYL	74	.	0			c.T1188C						PASS	.	T	,,	1382,3024	456.1+/-351.2	234,914,1055	125	125	125		792,792,1188	-1.1	0.9	6	dbSNP_120	125	36,8564	23.4+/-69.3	0,36,4264	no	coding-synonymous,coding-synonymous,coding-synonymous	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	,,	234,950,5319	CC,CT,TT		0.4186,31.3663,10.9027	,,	264/413,264/413,396/545	4943846	1418,11588	2203	4300	6503	SO:0001819	synonymous_variant	9425	exon5			AGCCATTGGTCTA	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1350T>C	6.37:g.4943846T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	97	46	0.474227	NM_004824	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																				T|0.895;C|0.105	0.105	strong		0.398	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		C	4943846	T	C	4943846	2	2	22	1	0	0	0	0	0	0	0	1	3185	1800	63	2		2	CDYL	6	4943846	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51465	4943846	166171221	3406	8514										
RPP40	10799	hgsc.bcm.edu	37	chr6	4996543	4996543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgttccctccagctcgctgCtctgcagcactgggcactgg	12	16	1	0	rs62385118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4996543C>T	ENST00000380051.2	-	6	715	c.671G>A	c.(670-672)aGc>aAc	p.S224N	RPP40_ENST00000464646.1_Missense_Mutation_p.S164N|RPP40_ENST00000319533.5_Missense_Mutation_p.S201N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	224					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CAGCTCGCTGCTCTGCAGCAC	0.542													C|||	233	0.0465256	0.0673	0.036	5008	,	,		18498	0.0387		0.0278	False		,,,				2504	0.0532				p.S224N		Atlas-SNP	.											.	RPP40	36	.	0			c.G671A						PASS	.	C	ASN/SER	284,4122	157.8+/-190.6	6,272,1925	74	73	73		671	4.4	0.9	6	dbSNP_129	73	293,8307	108.2+/-168.9	5,283,4012	yes	missense	RPP40	NM_006638.2	46	11,555,5937	TT,TC,CC		3.407,6.4458,4.4364	probably-damaging	224/364	4996543	577,12429	2203	4300	6503	SO:0001583	missense	10799	exon6			TCGCTGCTCTGCA	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.671G>A	6.37:g.4996543C>T	ENSP00000369391:p.Ser224Asn	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_006638	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	81	0.03708791208791209	21	0.042682926829268296	16	0.04419889502762431	23	0.04020979020979021	21	0.027704485488126648	C	10.66	1.412049	0.25465	0.064458	0.03407	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.43688	0.94;0.94;0.94	5.33	4.45	0.53987	.	0.088244	0.85682	D	0.000000	T	0.28333	0.0700	M	0.80028	2.48	0.41127	D	0.985859	B;B	0.22746	0.016;0.074	B;B	0.21360	0.016;0.034	T	0.22208	-1.0223	10	0.17369	T	0.5	-17.1227	14.3979	0.67022	0.1489:0.8511:0.0:0.0	rs62385118	201;224	O75818-2;O75818	.;RPP40_HUMAN	N	224;201;164	ENSP00000369391:S224N;ENSP00000317998:S201N;ENSP00000419431:S164N	ENSP00000317998:S201N	S	-	2	0	RPP40	4941542	0.954000	0.32549	0.900000	0.35374	0.020000	0.10135	2.169000	0.42434	1.223000	0.43536	-0.188000	0.12872	AGC	C|0.956;T|0.044	0.044	strong		0.542	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		T	4996543	C	T	4996543	3	4	22	1	0	0	0	0	1	0	0	0	13614	797	28	2	432	2	RPP40	6	4996543	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52697	4996543	166118524	3407	8515										
RPP40	10799	hgsc.bcm.edu	37	chr6	4996611	4996611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggctgatgctcctgaatTtggtacttggaaaaatatga	10	5	0	3	rs61730291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4996611T>G	ENST00000380051.2	-	6	647	c.603A>C	c.(601-603)caA>caC	p.Q201H	RPP40_ENST00000464646.1_Missense_Mutation_p.Q141H|RPP40_ENST00000319533.5_Missense_Mutation_p.Q178H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	201					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTCCTGAATTTGGTACTTGG	0.473													T|||	158	0.0315495	0.115	0.0086	5008	,	,		19568	0.0		0.0	False		,,,				2504	0.0				p.Q201H		Atlas-SNP	.											.	RPP40	36	.	0			c.A603C						PASS	.	T	HIS/GLN	431,3975	209.8+/-230.5	23,385,1795	105	101	103		603	-5.1	0.6	6	dbSNP_129	103	0,8600		0,0,4300	yes	missense	RPP40	NM_006638.2	24	23,385,6095	GG,GT,TT		0.0,9.7821,3.3139	benign	201/364	4996611	431,12575	2203	4300	6503	SO:0001583	missense	10799	exon6			CTGAATTTGGTAC	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.603A>C	6.37:g.4996611T>G	ENSP00000369391:p.Gln201His	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	98	47	0.479592	NM_006638	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	61	0.027930402930402932	58	0.11788617886178862	3	0.008287292817679558	0	0.0	0	0.0	T	13.36	2.213743	0.39102	0.097821	0.0	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.44083	0.93;0.93;0.93	5.23	-5.06	0.02946	.	0.748127	0.13823	N	0.360291	T	0.13841	0.0335	M	0.67953	2.075	0.29984	N	0.817458	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.12016	-1.0564	10	0.44086	T	0.13	-1.8359	2.4943	0.04618	0.1158:0.3526:0.2381:0.2936	.	178;201	O75818-2;O75818	.;RPP40_HUMAN	H	201;178;141	ENSP00000369391:Q201H;ENSP00000317998:Q178H;ENSP00000419431:Q141H	ENSP00000317998:Q178H	Q	-	3	2	RPP40	4941610	0.466000	0.25823	0.631000	0.29282	0.902000	0.53008	-0.492000	0.06467	-0.982000	0.03515	-0.321000	0.08615	CAA	T|0.971;G|0.029	0.029	strong		0.473	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		G	4996611	T	G	4996611	3	3	22	1	0	0	0	0	1	0	0	0	13614	1838	64	5	500	5	RPP40	6	4996611	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68	4996611	166118456	3408	8516										
RPP40	10799	hgsc.bcm.edu	37	chr6	4999011	4999011	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttttctttgaaagaccaAgatattctttcatacttctt	3	8	5	3	rs12214401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:4999011A>G	ENST00000380051.2	-	5	542	c.498T>C	c.(496-498)tcT>tcC	p.S166S	RPP40_ENST00000464646.1_Silent_p.S106S|RPP40_ENST00000319533.5_Silent_p.S143S	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	166					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGAAAGACCAAGATATTCTTT	0.269													A|||	268	0.0535144	0.118	0.0216	5008	,	,		15522	0.0		0.0318	False		,,,				2504	0.0665				p.S166S		Atlas-SNP	.											.	RPP40	36	.	0			c.T498C						PASS	.	A		435,3929		24,387,1771	30	32	31		498	3.3	1	6	dbSNP_120	31	298,8268		5,288,3990	no	coding-synonymous	RPP40	NM_006638.2		29,675,5761	GG,GA,AA		3.4789,9.9679,5.669		166/364	4999011	733,12197	2182	4283	6465	SO:0001819	synonymous_variant	10799	exon5			AGACCAAGATATT	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.498T>C	6.37:g.4999011A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	125	60	0.48	NM_006638	Q5VX97|Q8WVK8	Silent	SNP	ENST00000380051.2	37	CCDS34333.1																																																																																			A|0.944;G|0.056	0.056	strong		0.269	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		G	4999011	A	G	4999011	2	3	22	1	0	0	0	0	0	0	0	1	13614	59	3	3		3	RPP40	6	4999011	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2400	4999011	166116056	3409	8517										
LYRM4	57128	hgsc.bcm.edu	37	chr6	5260936	5260936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcatcgcccggtacagagAtaacacttgtgcgcgactgg	12	12	0	1	rs2224391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:5260936A>C	ENST00000330636.4	-	1	236	c.31T>G	c.(31-33)Tct>Gct	p.S11A	LYRM4_ENST00000500576.2_Missense_Mutation_p.S11A|LYRM4_ENST00000468929.1_Missense_Mutation_p.S11A|LYRM4_ENST00000480566.1_Missense_Mutation_p.S11A|LYRM4_ENST00000464010.1_Missense_Mutation_p.S11A|FARS2_ENST00000274680.4_5'Flank|FARS2_ENST00000324331.6_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	11			S -> A (in dbSNP:rs2224391). {ECO:0000269|PubMed:15489334}.		small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CGGTACAGAGATAACACTTGT	0.597													C|||	2018	0.402955	0.8396	0.3256	5008	,	,		8154	0.256		0.2525	False		,,,				2504	0.1738				p.S11A	NSCLC(130;1006 2426 17608 36797)	Atlas-SNP	.											.	LYRM4	5	.	0			c.T31G						PASS	.	C	ALA/SER,ALA/SER,ALA/SER	3199,1133		1226,747,193	21	21	21	http://www.ncbi.nlm.nih.gov/pubmed?term	31,31,31	4.2	1	6	dbSNP_96	21	2111,6375		305,1501,2437	yes	missense,missense,missense	LYRM4	NM_001164840.1,NM_001164841.1,NM_020408.4	99,99,99	1531,2248,2630	CC,CA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	24.8763,26.1542,41.4261	benign,benign,benign	11/131,11/97,11/92	5260936	5310,7508	2166	4243	6409	SO:0001583	missense	57128	exon1			ACAGAGATAACAC	AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.31T>G	6.37:g.5260936A>C	ENSP00000418787:p.Ser11Ala	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	25	14	0.56	NM_020408	A8K543|Q5XKP1	Missense_Mutation	SNP	ENST00000330636.4	37	CCDS4493.1	857	0.3923992673992674	406	0.8252032520325203	125	0.3453038674033149	141	0.2465034965034965	185	0.24406332453825857	C	14.64	2.596201	0.46318	0.738458	0.248763	ENSG00000214113	ENST00000468929;ENST00000330636;ENST00000464010;ENST00000480566;ENST00000500576	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.04	4.18	0.49190	.	0.885835	0.09315	N	0.819095	T	0.20047	0.0482	L	0.29908	0.895	0.58432	P	2.9999999999752447E-6	B;B	0.21147	0.012;0.052	B;B	0.27715	0.011;0.082	T	0.14868	-1.0457	9	0.25106	T	0.35	3.934	6.484	0.22079	0.1795:0.7276:0.0:0.0929	rs2224391;rs59639417;rs2224391	11;11	C9JRX8;Q9HD34	.;LYRM4_HUMAN	A	11	ENSP00000418321:S11A;ENSP00000418787:S11A;ENSP00000420026:S11A;ENSP00000419928:S11A;ENSP00000443900:S11A	ENSP00000418787:S11A	S	-	1	0	LYRM4	5205935	1.000000	0.71417	0.990000	0.47175	0.848000	0.48234	1.219000	0.32479	0.551000	0.29008	-0.729000	0.03580	TCT	A|0.556;C|0.444	0.444	strong		0.597	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		C	5260936	A	C	5260936	3	2	22	1	0	0	0	0	1	0	0	0	9121	333	12	5	534	5	LYRM4	6	5260936	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	261925	5260936	165854131	3410	8518										
RREB1	6239	hgsc.bcm.edu	37	chr6	7229346	7229346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgcacaagcagacccaTgtggcggcagaccagggtca	13	13	2	2	rs2714315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7229346T>C	ENST00000349384.6	+	10	1328	c.1014T>C	c.(1012-1014)caT>caC	p.H338H	RREB1_ENST00000379938.2_Silent_p.H338H|RREB1_ENST00000379933.3_Silent_p.H338H|RREB1_ENST00000334984.6_Silent_p.H338H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	338					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCAGACCCATGTGGCGGCAG	0.627													C|||	2044	0.408147	0.792	0.2147	5008	,	,		16187	0.2718		0.3419	False		,,,				2504	0.2352				p.H338H		Atlas-SNP	.											.	RREB1	242	.	0			c.T1014C						PASS	.	C	,,,	3059,1347	448.5+/-348.7	1056,947,200	44	40	41		1014,1014,1014,1014	-0.2	0.2	6	dbSNP_100	41	2631,5969	685.0+/-404.0	408,1815,2077	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	1464,2762,2277	CC,CT,TT		30.593,30.5719,43.749	,,,	338/1688,338/1743,338/1477,338/1688	7229346	5690,7316	2203	4300	6503	SO:0001819	synonymous_variant	6239	exon10			GACCCATGTGGCG	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1014T>C	6.37:g.7229346T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	89	0.988889	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																			T|0.555;C|0.445	0.445	strong		0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			C	7229346	T	C	7229346	2	2	22	1	0	0	0	0	0	0	0	1	13679	1461	51	2		2	RREB1	6	7229346	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1968410	7229346	163885721	3411	8519										
RREB1	6239	hgsc.bcm.edu	37	chr6	7229619	7229619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctcacagttctccccgcGaccaaggacagcataaagca	7	15	3	0	rs12192672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7229619G>A	ENST00000349384.6	+	10	1601	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	RREB1_ENST00000379933.3_Silent_p.A429A|RREB1_ENST00000379938.2_Silent_p.A429A|RREB1_ENST00000334984.6_Silent_p.A429A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	429					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTCTCCCCGCGACCAAGGACA	0.582													G|||	1019	0.203474	0.3351	0.1715	5008	,	,		18982	0.0417		0.3082	False		,,,				2504	0.1074				p.A429A		Atlas-SNP	.											.	RREB1	242	.	0			c.G1287A						PASS	.	G	,,,	1391,3015	457.3+/-351.6	220,951,1032	60	55	57		1287,1287,1287,1287	-9.4	0.2	6	dbSNP_120	57	2390,6210	397.7+/-345.9	338,1714,2248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	558,2665,3280	AA,AG,GG		27.7907,31.5706,29.0712	,,,	429/1688,429/1743,429/1477,429/1688	7229619	3781,9225	2203	4300	6503	SO:0001819	synonymous_variant	6239	exon10			CCCCGCGACCAAG	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1287G>A	6.37:g.7229619G>A		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																			G|0.736;A|0.264	0.264	strong		0.582	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7229619	G	A	7229619	2	1	22	1	0	0	0	0	0	0	0	1	13679	1045	37	1		1	RREB1	6	7229619	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	273	7229619	163885448	3412	8520										
RREB1	6239	hgsc.bcm.edu	37	chr6	7231280	7231280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttctcttcctgtaacttTggggcccagcggaatcctgg	10	14	1	0	rs115093903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7231280T>C	ENST00000349384.6	+	10	3262	c.2948T>C	c.(2947-2949)tTg>tCg	p.L983S	RREB1_ENST00000379938.2_Missense_Mutation_p.L983S|RREB1_ENST00000379933.3_Missense_Mutation_p.L983S|RREB1_ENST00000334984.6_Missense_Mutation_p.L983S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	983	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTGTAACTTTGGGGCCCAGC	0.692													T|||	74	0.0147764	0.0545	0.0029	5008	,	,		12856	0.0		0.0	False		,,,				2504	0.0				p.L983S		Atlas-SNP	.											.	RREB1	242	.	0			c.T2948C						PASS	.	T	SER/LEU,SER/LEU,SER/LEU,SER/LEU	180,4222		4,172,2025	18	21	20		2948,2948,2948,2948	3.3	0	6	dbSNP_132	20	0,8600		0,0,4300	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	145,145,145,145	4,172,6325	CC,CT,TT		0.0,4.0891,1.3844	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	983/1688,983/1743,983/1477,983/1688	7231280	180,12822	2201	4300	6501	SO:0001583	missense	6239	exon10			TAACTTTGGGGCC	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2948T>C	6.37:g.7231280T>C	ENSP00000305560:p.Leu983Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	T	12.76	2.034987	0.35893	0.040891	0.0	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11495	2.89;2.85;2.89;2.77	5.74	3.35	0.38373	.	0.784404	0.10919	N	0.619695	T	0.03095	0.0091	L	0.43152	1.355	0.09310	N	1	B;B;B	0.32245	0.277;0.361;0.038	B;B;B	0.32289	0.143;0.107;0.037	T	0.46105	-0.9215	10	0.22109	T	0.4	-0.1912	8.4336	0.32773	0.0:0.1663:0.0:0.8337	.	983;983;983	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	S	983	ENSP00000369265:L983S;ENSP00000369270:L983S;ENSP00000305560:L983S;ENSP00000335574:L983S	ENSP00000335574:L983S	L	+	2	0	RREB1	7176279	0.264000	0.24093	0.003000	0.11579	0.012000	0.07955	1.900000	0.39828	0.442000	0.26555	0.533000	0.62120	TTG	T|0.989;C|0.011	0.011	strong		0.692	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			C	7231280	T	C	7231280	3	2	22	1	0	0	0	0	1	0	0	0	13679	1821	63	2	2974	2	RREB1	6	7231280	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1661	7231280	163883787	3413	8521										
RREB1	6239	hgsc.bcm.edu	37	chr6	7231736	7231736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcccgctccagccagcaGcccagaggctgcctctccca	9	21	1	1	rs116295722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7231736G>T	ENST00000349384.6	+	10	3718	c.3404G>T	c.(3403-3405)aGc>aTc	p.S1135I	RREB1_ENST00000379933.3_Missense_Mutation_p.S1135I|RREB1_ENST00000379938.2_Missense_Mutation_p.S1135I|RREB1_ENST00000334984.6_Missense_Mutation_p.S1135I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1135					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGCCAGCAGCCCAGAGGCT	0.687													G|||	12	0.00239617	0.0091	0.0	5008	,	,		13021	0.0		0.0	False		,,,				2504	0.0				p.S1135I		Atlas-SNP	.											.	RREB1	242	.	0			c.G3404T						PASS	.	G	ILE/SER,ILE/SER,ILE/SER,ILE/SER	17,4291		0,17,2137	8	12	11		3404,3404,3404,3404	5.7	1	6	dbSNP_132	11	1,8493		0,1,4246	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	142,142,142,142	0,18,6383	TT,TG,GG		0.0118,0.3946,0.1406	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1135/1688,1135/1743,1135/1477,1135/1688	7231736	18,12784	2154	4247	6401	SO:0001583	missense	6239	exon10			CCAGCAGCCCAGA	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3404G>T	6.37:g.7231736G>T	ENSP00000305560:p.Ser1135Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	110	58	0.527273	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	17.76	3.469337	0.63625	0.003946	1.18E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.13307	2.6;2.7;2.6;2.6	5.73	5.73	0.89815	.	0.089674	0.47455	D	0.000240	T	0.21186	0.0510	M	0.62723	1.935	0.38993	D	0.959191	D;D;D	0.67145	0.993;0.993;0.996	P;P;D	0.65010	0.9;0.855;0.931	T	0.00778	-1.1570	10	0.72032	D	0.01	-50.0022	10.0245	0.42063	0.1544:0.0:0.8456:0.0	.	1135;1135;1135	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	I	1135	ENSP00000369265:S1135I;ENSP00000369270:S1135I;ENSP00000305560:S1135I;ENSP00000335574:S1135I	ENSP00000335574:S1135I	S	+	2	0	RREB1	7176735	0.693000	0.27728	0.999000	0.59377	0.626000	0.37791	1.532000	0.36029	2.695000	0.91970	0.655000	0.94253	AGC	G|0.997;T|0.003	0.003	strong		0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7231736	G	T	7231736	3	4	22	1	0	0	0	0	1	0	0	0	13679	971	34	4	3430	4	RREB1	6	7231736	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	456	7231736	163883331	3414	8522										
RREB1	6239	hgsc.bcm.edu	37	chr6	7246994	7246994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggcgacggcgaggcaggCgccgggggcgcggcctcgca	22	13	0	0	rs187908583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7246994C>T	ENST00000349384.6	+	11	4460	c.4146C>T	c.(4144-4146)ggC>ggT	p.G1382G	RREB1_ENST00000379938.2_Silent_p.G1437G|RREB1_ENST00000379933.3_Silent_p.G1382G|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1382					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGAGGCAGGCGCCGGGGGCG	0.692													C|||	33	0.00658946	0.025	0.0	5008	,	,		11874	0.0		0.0	False		,,,				2504	0.0				p.G1437G		Atlas-SNP	.											.	RREB1	242	.	0			c.C4311T						PASS	.	C	,,,	60,4166		0,60,2053	11	13	13		4146,4311,,4146	-3.5	0	6		13	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,61,6204	TT,TC,CC		0.012,1.4198,0.4868	,,,	1382/1688,1437/1743,,1382/1688	7246994	61,12469	2113	4152	6265	SO:0001819	synonymous_variant	6239	exon12			GGCAGGCGCCGGG	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4146C>T	6.37:g.7246994C>T		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_001003699	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																			C|0.993;T|0.007	0.007	strong		0.692	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7246994	C	T	7246994	2	4	22	1	0	0	0	0	0	0	0	1	13679	755	27	1		1	RREB1	6	7246994	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15258	7246994	163868073	3415	8523										
SSR1	6745	hgsc.bcm.edu	37	chr6	7310259	7310259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcttgtgccactgctaacAagcctaatgataaaatacag	7	9	1	1	rs10004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7310259A>G	ENST00000244763.4	-	2	169	c.83T>C	c.(82-84)tTg>tCg	p.L28S	SSR1_ENST00000534851.1_Missense_Mutation_p.L28S|SSR1_ENST00000479365.1_Missense_Mutation_p.L28S|SSR1_ENST00000474597.1_Missense_Mutation_p.L28S|SSR1_ENST00000489567.1_Missense_Mutation_p.L28S|SSR1_ENST00000462112.1_Missense_Mutation_p.L28S|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000397511.2_Missense_Mutation_p.L28S	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	28			L -> S (in dbSNP:rs10004). {ECO:0000269|PubMed:8050590, ECO:0000269|Ref.6}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L28S(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CACTGCTAACAAGCCTAATGA	0.363													G|||	1474	0.294329	0.5144	0.1542	5008	,	,		17650	0.2609		0.2455	False		,,,				2504	0.181				p.L28S		Atlas-SNP	.											SSR1,NS,carcinoma,0,1	SSR1	21	1	1	Substitution - Missense(1)	lung(1)	c.T83C						PASS	.	G	SER/LEU	2004,2402	613.7+/-392.2	439,1126,638	124	121	122		83	3	0	6	dbSNP_52	122	2258,6342	707.5+/-405.6	305,1648,2347	yes	missense	SSR1	NM_003144.3	145	744,2774,2985	GG,GA,AA		26.2558,45.4834,32.7695	benign	28/287	7310259	4262,8744	2203	4300	6503	SO:0001583	missense	6745	exon2			GCTAACAAGCCTA		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.83T>C	6.37:g.7310259A>G	ENSP00000244763:p.Leu28Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	116	63	0.543103	NM_003144	A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	CCDS4499.1	642	0.29395604395604397	241	0.4898373983739837	65	0.17955801104972377	144	0.2517482517482518	192	0.2532981530343008	G	8.517	0.867893	0.17250	0.454834	0.262558	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567;ENST00000479365;ENST00000462112	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	3.91	3.04	0.35103	.	0.456420	0.21293	N	0.076926	T	0.10252	0.0251	N	0.20986	0.625	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.17379	-1.0371	9	0.20519	T	0.43	.	7.6038	0.28091	0.3016:0.0:0.6984:0.0	rs10004;rs1139088;rs3203131;rs7746261;rs11552673;rs17295574;rs52829480;rs58553065;rs7746261	28;28;28	C9J5W0;C9JBX5;P43307	.;.;SSRA_HUMAN	S	28	ENSP00000418617:L28S;ENSP00000244763:L28S;ENSP00000380647:L28S;ENSP00000443020:L28S;ENSP00000420730:L28S;ENSP00000417911:L28S;ENSP00000417290:L28S	ENSP00000244763:L28S	L	-	2	0	SSR1	7255258	0.995000	0.38212	0.028000	0.17463	0.602000	0.36980	3.670000	0.54569	0.625000	0.30304	-0.748000	0.03510	TTG	T|0.123;G|0.260	0.260	strong		0.363	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2			G	7310259	A	G	7310259	3	3	22	1	0	0	0	0	1	0	0	0	15189	131	5	2	805	2	SSR1	6	7310259	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63265	7310259	163804808	3416	8524										
CAGE1	285782	hgsc.bcm.edu	37	chr6	7379031	7379031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatttgcagaaacactaGtttccattggattttcttcc	6	9	1	1	rs10223538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7379031G>A	ENST00000512086.1	-	4	708	c.506C>T	c.(505-507)aCt>aTt	p.T169I	CAGE1_ENST00000379918.4_Missense_Mutation_p.T169I|CAGE1_ENST00000502583.1_Missense_Mutation_p.T169I|CAGE1_ENST00000296742.7_Missense_Mutation_p.T33I|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000338150.4_Missense_Mutation_p.T169I			Q8TC20	CAGE1_HUMAN	cancer antigen 1	169			T -> I (in dbSNP:rs10223538).							breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAAACACTAGTTTCCATTGG	0.388													G|||	216	0.043131	0.1543	0.0159	5008	,	,		16170	0.0		0.0	False		,,,				2504	0.001				p.T169I		Atlas-SNP	.											.	CAGE1	165	.	0			c.C506T						PASS	.	G	ILE/THR,ILE/THR,ILE/THR	470,3226		30,410,1408	123	121	122		506,506,98	0.7	0.5	6	dbSNP_119	122	5,8187		0,5,4091	yes	missense,missense,missense	CAGE1	NM_001170692.1,NM_001170693.1,NM_205864.2	89,89,89	30,415,5499	AA,AG,GG		0.061,12.7165,3.9956	possibly-damaging,possibly-damaging,possibly-damaging	169/840,169/825,33/642	7379031	475,11413	1848	4096	5944	SO:0001583	missense	285782	exon4			ACACTAGTTTCCA	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.506C>T	6.37:g.7379031G>A	ENSP00000427583:p.Thr169Ile	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	149	72	0.483221	NM_001170693	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37		74	0.03388278388278388	69	0.1402439024390244	5	0.013812154696132596	0	0.0	0	0.0	G	13.88	2.367959	0.42003	0.127165	6.1E-4	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.23	0.698	0.18087	.	0.571069	0.16966	N	0.192296	T	0.12817	0.0311	L	0.56769	1.78	0.09310	N	1	B	0.20052	0.041	B	0.21917	0.037	T	0.26189	-1.0110	10	0.87932	D	0	-2.6713	2.1016	0.03681	0.1193:0.3601:0.3254:0.1953	rs10223538;rs52806665;rs10223538	169	Q8TC20	CAGE1_HUMAN	I	169;169;169;33;169;169;169;181	ENSP00000369250:T169I;ENSP00000425493:T169I;ENSP00000296742:T33I;ENSP00000427583:T169I;ENSP00000338107:T169I;ENSP00000423789:T181I	ENSP00000296742:T33I	T	-	2	0	CAGE1	7324030	0.274000	0.24191	0.457000	0.27056	0.637000	0.38172	0.554000	0.23407	0.271000	0.22005	0.655000	0.94253	ACT	G|0.944;A|0.056	0.056	strong		0.388	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		A	7379031	G	A	7379031	3	1	22	1	0	0	0	0	1	0	0	0	2572	1029	36	2	2163	2	CAGE1	6	7379031	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68772	7379031	163736036	3417	8525										
DSP	1832	hgsc.bcm.edu	37	chr6	7565596	7565596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaacctcctgtgcagaaagCgtcctttgagaggatggatc	12	9	0	3	rs139509870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7565596C>T	ENST00000379802.3	+	7	1123	c.782C>T	c.(781-783)gCg>gTg	p.A261V	DSP_ENST00000418664.2_Missense_Mutation_p.A261V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	261	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGCAGAAAGCGTCCTTTGAG	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19062	0.0		0.0	False		,,,				2504	0.0				p.A261V		Atlas-SNP	.											.	DSP	306	.	0			c.C782T						PASS	.	C	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	106	95	98		782,782	4.6	0.7	6	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	64,64	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign	261/2273,261/2872	7565596	5,13001	2203	4300	6503	SO:0001583	missense	1832	exon7			AGAAAGCGTCCTT	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.782C>T	6.37:g.7565596C>T	ENSP00000369129:p.Ala261Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	50	22	0.44	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.58	2.579212	0.46006	0.001135	0.0	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92752	-3.1;-3.1	5.42	4.55	0.56014	.	0.366306	0.23134	N	0.051542	T	0.74854	0.3771	L	0.29908	0.895	0.25172	N	0.990271	B;B	0.26483	0.15;0.15	B;B	0.14578	0.006;0.011	T	0.66484	-0.5912	10	0.45353	T	0.12	.	7.1237	0.25458	0.1483:0.7018:0.0:0.1499	.	308;261	Q4LE79;P15924	.;DESP_HUMAN	V	261;261;66	ENSP00000369129:A261V;ENSP00000396591:A261V	ENSP00000369129:A261V	A	+	2	0	DSP	7510595	0.687000	0.27671	0.682000	0.30024	0.913000	0.54294	1.332000	0.33805	1.284000	0.44531	0.563000	0.77884	GCG	C|1.000;T|0.000	0.000	strong		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7565596	C	T	7565596	3	4	22	1	0	0	0	0	1	0	0	0	4781	768	27	1	808	1	DSP	6	7565596	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	186565	7565596	163549471	3418	8526										
DSP	1832	hgsc.bcm.edu	37	chr6	7576569	7576569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaagcaattgaggaattaTcgtgataactatcaggcttt	8	6	2	2	rs146407262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7576569T>C	ENST00000379802.3	+	19	3014	c.2673T>C	c.(2671-2673)taT>taC	p.Y891Y	DSP_ENST00000418664.2_Silent_p.Y891Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	891	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGGAATTATCGTGATAACT	0.383													T|||	35	0.00698882	0.0257	0.0014	5008	,	,		18556	0.0		0.0	False		,,,				2504	0.0				p.Y891Y		Atlas-SNP	.											.	DSP	306	.	0			c.T2673C						PASS	.	T	,	100,4306	79.9+/-118.3	1,98,2104	107	110	109		2673,2673	-6.6	0.9	6	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	1,98,6404	CC,CT,TT		0.0,2.2696,0.7689	,	891/2273,891/2872	7576569	100,12906	2203	4300	6503	SO:0001819	synonymous_variant	1832	exon19			GAATTATCGTGAT	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2673T>C	6.37:g.7576569T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			T|0.991;C|0.009	0.009	strong		0.383	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7576569	T	C	7576569	2	2	22	1	0	0	0	0	0	0	0	1	4781	1442	50	2		2	DSP	6	7576569	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10973	7576569	163538498	3419	8527										
DSP	1832	hgsc.bcm.edu	37	chr6	7577260	7577260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaaaattgctgaactttgCgccaattcaattaaggtatg	7	7	1	1	rs2064217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7577260C>T	ENST00000379802.3	+	20	3203	c.2862C>T	c.(2860-2862)tgC>tgT	p.C954C	DSP_ENST00000418664.2_Silent_p.C954C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	954	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.C954C(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGAACTTTGCGCCAATTCAA	0.323													C|||	1378	0.27516	0.4039	0.2363	5008	,	,		18325	0.1915		0.2266	False		,,,				2504	0.2648				p.C954C		Atlas-SNP	.											DSP,NS,carcinoma,0,1	DSP	306	1	1	Substitution - coding silent(1)	stomach(1)	c.C2862T						PASS	.	C	,	1640,2766	502.2+/-365.2	310,1020,873	88	84	85		2862,2862	2.1	1	6	dbSNP_94	85	1856,6742	329.9+/-319.0	194,1468,2637	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	504,2488,3510	TT,TC,CC		21.5864,37.222,26.884	,	954/2273,954/2872	7577260	3496,9508	2203	4299	6502	SO:0001819	synonymous_variant	1832	exon20			ACTTTGCGCCAAT	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2862C>T	6.37:g.7577260C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			C|0.737;T|0.263	0.263	strong		0.323	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7577260	C	T	7577260	2	4	22	1	0	0	0	0	0	0	0	1	4781	776	27	1		1	DSP	6	7577260	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	691	7577260	163537807	3420	8528										
DSP	1832	hgsc.bcm.edu	37	chr6	7580958	7580958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagattacaaagggtccagtAtgacctgcagaaagcaaaca	10	8	0	3	rs2076299|rs397516939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7580958A>G	ENST00000379802.3	+	23	4876	c.4535A>G	c.(4534-4536)tAt>tGt	p.Y1512C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1512	Central fibrous rod domain.		Y -> C (in dbSNP:rs2076299). {ECO:0000269|PubMed:19863551, ECO:0000269|PubMed:20031617}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGGTCCAGTATGACCTGCAG	0.428													A|||	1018	0.203275	0.3139	0.1772	5008	,	,		21936	0.2867		0.0358	False		,,,				2504	0.1585				p.Y1512C		Atlas-SNP	.											.	DSP	306	.	0			c.A4535G						PASS	.	A	,CYS/TYR	1193,3213	414.6+/-336.9	177,839,1187	121	117	118		,4535	1.8	0.4	6	dbSNP_96	118	380,8220	123.9+/-182.7	5,370,3925	yes	intron,missense	DSP	NM_001008844.1,NM_004415.2	,194	182,1209,5112	GG,GA,AA		4.4186,27.0767,12.0944	,benign	,1512/2872	7580958	1573,11433	2203	4300	6503	SO:0001583	missense	1832	exon23			TCCAGTATGACCT	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4535A>G	6.37:g.7580958A>G	ENSP00000369129:p.Tyr1512Cys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	399	0.18269230769230768	132	0.2682926829268293	52	0.143646408839779	180	0.3146853146853147	35	0.04617414248021108	A	7.581	0.668762	0.14776	0.270767	0.044186	ENSG00000096696	ENST00000379802	T	0.70164	-0.46	5.74	1.8	0.24995	.	0.497515	0.18746	N	0.132315	T	0.28001	0.0690	N	0.14661	0.345	0.09310	P	0.9999999999893495	P	0.34462	0.454	B	0.36959	0.237	T	0.05273	-1.0895	9	0.52906	T	0.07	.	5.5709	0.17196	0.4336:0.0:0.0811:0.4854	rs2076299;rs52792530;rs57440467;rs2076299	1512	P15924	DESP_HUMAN	C	1512	ENSP00000369129:Y1512C	ENSP00000369129:Y1512C	Y	+	2	0	DSP	7525957	0.062000	0.20869	0.380000	0.26093	0.546000	0.35178	0.826000	0.27407	0.431000	0.26258	0.533000	0.62120	TAT	A|0.840;C|0.001	.	strong		0.428	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7580958	A	G	7580958	3	3	22	1	0	0	0	0	1	0	0	0	4781	449	16	2	4625	2	DSP	6	7580958	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3698	7580958	163534109	3421	8529										
DSP	1832	hgsc.bcm.edu	37	chr6	7585795	7585795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacagaggctgcaagacaCcagcagctatgccaaaatcc	9	14	0	2	rs34884895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7585795C>A	ENST00000379802.3	+	24	8641	c.8300C>A	c.(8299-8301)aCc>aAc	p.T2767N	DSP_ENST00000418664.2_Missense_Mutation_p.T2168N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2767	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGCAAGACACCAGCAGCTAT	0.512													C|||	35	0.00698882	0.0257	0.0014	5008	,	,		807	0.0		0.0	False		,,,				2504	0.0				p.T2767N		Atlas-SNP	.											.	DSP	306	.	0			c.C8300A						PASS	.	C	ASN/THR,ASN/THR	100,4306	79.3+/-117.8	1,98,2104	70	80	77		6503,8300	2.2	1	6	dbSNP_126	77	0,8600		0,0,4300	yes	missense,missense	DSP	NM_001008844.1,NM_004415.2	65,65	1,98,6404	AA,AC,CC		0.0,2.2696,0.7689	possibly-damaging,possibly-damaging	2168/2273,2767/2872	7585795	100,12906	2203	4300	6503	SO:0001583	missense	1832	exon24			AAGACACCAGCAG	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8300C>A	6.37:g.7585795C>A	ENSP00000369129:p.Thr2767Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	90	49	0.544444	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	15.09	2.730333	0.48939	0.022696	0.0	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73258	-0.73;-0.73	5.49	2.23	0.28157	.	0.171164	0.41396	D	0.000892	T	0.64283	0.2584	L	0.60455	1.87	0.22292	N	0.999227	D;P	0.67145	0.996;0.899	D;P	0.68483	0.958;0.689	T	0.57562	-0.7790	10	0.26408	T	0.33	.	8.2741	0.31862	0.0:0.6483:0.0:0.3517	rs34884895	2215;2767	Q4LE79;P15924	.;DESP_HUMAN	N	2767;2168	ENSP00000369129:T2767N;ENSP00000396591:T2168N	ENSP00000369129:T2767N	T	+	2	0	DSP	7530794	0.206000	0.23470	1.000000	0.80357	0.997000	0.91878	0.743000	0.26231	0.204000	0.20548	0.561000	0.74099	ACC	C|0.991;A|0.009	0.009	strong		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7585795	C	A	7585795	3	1	22	1	0	0	0	0	1	0	0	0	4781	507	18	4	8394	4	DSP	6	7585795	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4837	7585795	163529272	3422	8530										
TXNDC5	81567	hgsc.bcm.edu	37	chr6	7883386	7883386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactgtgttcctaaagttcGtctttcgcttggctcaggac	9	11	2	0	rs9502656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:7883386G>A	ENST00000379757.4	-	10	1327	c.1290C>T	c.(1288-1290)gaC>gaT	p.D430D	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.D358D|TXNDC5_ENST00000473453.1_Silent_p.D322D	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	430					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCTAAAGTTCGTCTTTCGCTT	0.557													G|||	375	0.0748802	0.2466	0.0331	5008	,	,		17755	0.0		0.0209	False		,,,				2504	0.0051				p.D430D	Ovarian(119;1430 1625 3928 26125 34589)	Atlas-SNP	.											.	TXNDC5	33	.	0			c.C1290T						PASS	.	G	,	895,3511	345.9+/-308.8	94,707,1402	159	117	131		966,1290	-10.3	0	6	dbSNP_119	131	184,8416	82.9+/-145.4	4,176,4120	no	coding-synonymous,coding-synonymous	TXNDC5	NM_001145549.2,NM_030810.3	,	98,883,5522	AA,AG,GG		2.1395,20.3132,8.2962	,	322/325,430/433	7883386	1079,11927	2203	4300	6503	SO:0001819	synonymous_variant	81567	exon10			AAGTTCGTCTTTC	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1290C>T	6.37:g.7883386G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	65	25	0.384615	NM_030810	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	CCDS4505.1																																																																																			G|0.920;A|0.080	0.080	strong		0.557	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		A	7883386	G	A	7883386	2	1	22	1	0	0	0	0	0	0	0	1	16796	1136	40	1		1	TXNDC5	6	7883386	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	297591	7883386	163231681	3423	8531										
SLC35B3	51000	hgsc.bcm.edu	37	chr6	8413890	8413890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatttttgctgtaaacattAagaaatataccaaggacaac	5	6	0	1	rs3757099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:8413890A>G	ENST00000379660.4	-	11	1547	c.1098T>C	c.(1096-1098)ctT>ctC	p.L366L		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	366					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TGTAAACATTAAGAAATATAC	0.299													G|||	1792	0.357827	0.6974	0.2421	5008	,	,		16596	0.125		0.2296	False		,,,				2504	0.3528				p.L366L	Melanoma(83;700 1353 9357 11478 30548)	Atlas-SNP	.											.	SLC35B3	38	.	0			c.T1098C						PASS	.	G	,,	2887,1517	451.0+/-349.5	963,961,278	54	47	49		1098,1098,1098	3.1	1	6	dbSNP_107	49	2071,6525	685.2+/-404.0	226,1619,2453	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC35B3	NM_001142540.1,NM_001142541.1,NM_015948.3	,,	1189,2580,2731	GG,GA,AA		24.0926,34.446,38.1385	,,	366/402,366/402,366/402	8413890	4958,8042	2202	4298	6500	SO:0001819	synonymous_variant	51000	exon11			AACATTAAGAAAT	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.1098T>C	6.37:g.8413890A>G		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	29	0.630435	NM_001142540	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Silent	SNP	ENST00000379660.4	37	CCDS4508.1																																																																																			A|0.639;G|0.360	0.360	strong		0.299	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		G	8413890	A	G	8413890	2	3	22	1	0	0	0	0	0	0	0	1	14577	349	13	2		2	SLC35B3	6	8413890	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	530504	8413890	162701177	3424	8532										
TFAP2A	7020	hgsc.bcm.edu	37	chr6	10398707	10398707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgttgttgtccgtgtggctGttggggttgttgctgaggta	18	5	0	1	rs3734391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:10398707G>A	ENST00000482890.1	-	8	1609	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379613.3_Silent_p.N421N|TFAP2A_ENST00000379604.2_Silent_p.N419N|TFAP2A_ENST00000379608.3_Silent_p.N413N|TFAP2A_ENST00000319516.4_Silent_p.N415N			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	419					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCGTGTGGCTGTTGGGGTTGT	0.627													G|||	445	0.0888578	0.084	0.0951	5008	,	,		12859	0.0308		0.1521	False		,,,				2504	0.0859				p.N419N		Atlas-SNP	.											.	TFAP2A	129	.	0			c.C1257T						PASS	.	G	,,	384,4022	193.0+/-218.2	12,360,1831	318	331	327		1239,1245,1257	5.4	1	6	dbSNP_107	327	1231,7369	247.1+/-275.3	93,1045,3162	no	coding-synonymous,coding-synonymous,coding-synonymous	TFAP2A	NM_001032280.2,NM_001042425.1,NM_003220.2	,,	105,1405,4993	AA,AG,GG		14.314,8.7154,12.4173	,,	413/432,415/434,419/438	10398707	1615,11391	2203	4300	6503	SO:0001819	synonymous_variant	7020	exon7			GTGGCTGTTGGGG	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1257C>T	6.37:g.10398707G>A		Somatic	354	1	0.00282486		WXS	Illumina HiSeq	Phase_I	442	196	0.443439	NM_003220	Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	CCDS4510.1																																																																																			G|0.883;A|0.117	0.117	strong		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		A	10398707	G	A	10398707	2	1	22	1	0	0	0	0	0	0	0	1	15784	1368	48	2		2	TFAP2A	6	10398707	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1984817	10398707	160716360	3425	8533										
TMEM14B	81853	hgsc.bcm.edu	37	chr6	10751379	10751379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctaggcagcgtgccgtcCctggctgcagggctgctctt	13	14	2	0	rs1046427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:10751379C>T	ENST00000379542.5	+	4	281	c.114C>T	c.(112-114)tcC>tcT	p.S38S	TMEM14B_ENST00000475942.1_Silent_p.S38S|TMEM14B_ENST00000379530.3_Intron|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Intron|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000467317.1_Silent_p.S38S	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	38						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCGTGCCGTCCCTGGCTGCAG	0.542													C|||	117	0.0233626	0.0779	0.0115	5008	,	,		20713	0.0		0.004	False		,,,				2504	0.002				p.S38S		Atlas-SNP	.											.	TMEM14B	19	.	0			c.C114T						PASS	.	C	,	262,4142	148.4+/-182.8	15,232,1955	129	112	118		,114	3.1	0.9	6	dbSNP_86	118	28,8572	18.5+/-59.3	0,28,4272	no	intron,coding-synonymous	TMEM14B	NM_001127711.1,NM_030969.3	,	15,260,6227	TT,TC,CC		0.3256,5.9491,2.2301	,	,38/115	10751379	290,12714	2202	4300	6502	SO:0001819	synonymous_variant	81853	exon4			GCCGTCCCTGGCT	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.114C>T	6.37:g.10751379C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	122	59	0.483607	NM_030969	Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Silent	SNP	ENST00000379542.5	37	CCDS4515.1																																																																																			C|0.979;T|0.021	0.021	strong		0.542	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	NM_030969		T	10751379	C	T	10751379	2	4	22	1	0	0	0	0	0	0	0	1	16061	610	22	2		2	TMEM14B	6	10751379	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	352672	10751379	160363688	3426	8534										
MAK	4117	hgsc.bcm.edu	37	chr6	10792040	10792040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagatagtctgaccccaaCgcctcctaccacttttatga	6	13	1	4	rs62000445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:10792040C>A	ENST00000313243.2	-	10	1566	c.1184G>T	c.(1183-1185)cGt>cTt	p.R395L	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.R395L|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R395L|MAK_ENST00000354489.2_Missense_Mutation_p.R395L			P20794	MAK_HUMAN	male germ cell-associated kinase	395					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CTGACCCCAACGCCTCCTACC	0.448													C|||	48	0.00958466	0.0348	0.0029	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0				p.R395L		Atlas-SNP	.											MAK,NS,carcinoma,-1,1	MAK	47	1	0			c.G1184T						PASS	.	C	LEU/ARG,LEU/ARG	125,4281	93.4+/-132.2	3,119,2081	114	104	107		1184,1184	5	0.9	6	dbSNP_129	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAK	NM_001242385.1,NM_005906.4	102,102	3,120,6380	AA,AC,CC		0.0116,2.837,0.9688	probably-damaging,probably-damaging	395/584,395/624	10792040	126,12880	2203	4300	6503	SO:0001583	missense	4117	exon10			CCCCAACGCCTCC		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1184G>T	6.37:g.10792040C>A	ENSP00000313021:p.Arg395Leu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	150	73	0.486667	NM_005906	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	CCDS4516.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	C	22.3	4.265065	0.80358	0.02837	1.16E-4	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030	T;T;T	0.77877	-1.13;-1.13;-0.92	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87928	0.2708	10	0.87932	D	0	.	16.8762	0.86052	0.0:1.0:0.0:0.0	.	395	P20794	MAK_HUMAN	L	395	ENSP00000313021:R395L;ENSP00000346484:R395L;ENSP00000442250:R395L	ENSP00000313021:R395L	R	-	2	0	MAK	10900026	0.999000	0.42202	0.902000	0.35471	0.522000	0.34438	5.363000	0.66104	2.487000	0.83934	0.655000	0.94253	CGT	C|0.991;A|0.009	0.009	strong		0.448	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		A	10792040	C	A	10792040	3	1	22	1	0	0	0	0	1	0	0	0	9197	536	19	4	707	4	MAK	6	10792040	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40661	10792040	160323027	3427	8535										
NEDD9	4739	hgsc.bcm.edu	37	chr6	11190859	11190859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaagggcctgctggagccGctgaagtctctcaatagctg	12	12	3	1	rs61755989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:11190859G>A	ENST00000379446.5	-	5	1409	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	NEDD9_ENST00000504387.1_Missense_Mutation_p.R415W|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	415					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGCTGGAGCCGCTGAAGTCTC	0.537													G|||	104	0.0207668	0.0741	0.0072	5008	,	,		19658	0.0		0.001	False		,,,				2504	0.0				p.R415W		Atlas-SNP	.											.	NEDD9	191	.	0			c.C1243T						PASS	.	G	TRP/ARG,TRP/ARG	272,4134	152.9+/-186.6	8,256,1939	68	64	65		1243,1243	3.2	0.3	6	dbSNP_129	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NEDD9	NM_001142393.1,NM_006403.3	101,101	8,258,6237	AA,AG,GG		0.0233,6.1734,2.1067	benign,benign	415/835,415/835	11190859	274,12732	2203	4300	6503	SO:0001583	missense	4739	exon6			GGAGCCGCTGAAG	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1243C>T	6.37:g.11190859G>A	ENSP00000368759:p.Arg415Trp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	105	51	0.485714	NM_001142393	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	G	8.301	0.819834	0.16678	0.061734	2.33E-4	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.27256	1.68;1.68	5.92	3.16	0.36331	Serine rich protein interaction (1);	0.147556	0.64402	N	0.000009	T	0.12689	0.0308	M	0.77103	2.36	0.80722	D	1	B;B;B	0.33512	0.415;0.294;0.403	B;B;B	0.29176	0.081;0.099;0.045	T	0.02966	-1.1088	10	0.59425	D	0.04	-11.9291	5.1672	0.15092	0.1975:0.0:0.5527:0.2498	.	415;415;415	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	W	415	ENSP00000368759:R415W;ENSP00000422871:R415W	ENSP00000368759:R415W	R	-	1	2	NEDD9	11298845	0.969000	0.33509	0.350000	0.25708	0.084000	0.17831	1.794000	0.38774	0.395000	0.25257	-0.182000	0.12963	CGG	G|0.981;A|0.019	0.019	strong		0.537	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		A	11190859	G	A	11190859	3	1	22	1	0	0	0	0	1	0	0	0	10313	1086	38	1	1273	1	NEDD9	6	11190859	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	398819	11190859	159924208	3428	8536										
C6orf105	84830	hgsc.bcm.edu	37	chr6	11723636	11723636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagatgctggcgatgaagaCgtagctgagagagaagaaag	16	4	0	6	rs2076185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:11723636C>T	ENST00000414691.3	-	5	1014	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	ADTRP_ENST00000379413.2_Missense_Mutation_p.V202I|ADTRP_ENST00000229583.5_Missense_Mutation_p.V220I|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	202			V -> I (in dbSNP:rs2076185).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GCGATGAAGACGTAGCTGAGA	0.493													C|||	789	0.157548	0.0741	0.0418	5008	,	,		19217	0.4812		0.0368	False		,,,				2504	0.1431				p.V220I		Atlas-SNP	.											.	ADTRP	3	.	0			c.G658A						PASS	.	C	ILE/VAL,ILE/VAL	330,4076	174.8+/-204.3	12,306,1885	200	199	199		658,604	-11.9	0	6	dbSNP_96	199	226,8374	93.8+/-155.7	2,222,4076	yes	missense,missense	C6orf105	NM_001143948.1,NM_032744.3	29,29	14,528,5961	TT,TC,CC		2.6279,7.4898,4.275	benign,benign	220/249,202/231	11723636	556,12450	2203	4300	6503	SO:0001583	missense	84830	exon6			TGAAGACGTAGCT	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.604G>A	6.37:g.11723636C>T	ENSP00000404416:p.Val202Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	82	46	0.560976	NM_001143948	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	CCDS4521.1	337	0.1543040293040293	30	0.06097560975609756	10	0.027624309392265192	264	0.46153846153846156	33	0.04353562005277045	C	4.836	0.155405	0.09236	0.074898	0.026279	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000503285;ENST00000379413	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.96	-11.9	0.00025	.	1.141520	0.06148	N	0.673551	T	0.01189	0.0039	N	0.00446	-1.495	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34354	-0.9832	9	0.08381	T	0.77	-1.3615	5.177	0.15141	0.0967:0.3665:0.3859:0.151	rs2076185;rs52797021;rs56622535;rs59870797;rs2076185	220;202	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	I	202;220;63;202	ENSP00000404416:V202I;ENSP00000229583:V220I;ENSP00000426507:V63I;ENSP00000368723:V202I	ENSP00000229583:V220I	V	-	1	0	C6orf105	11831622	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-1.876000	0.01633	-1.553000	0.01702	-0.238000	0.12139	GTC	C|0.890;T|0.110	0.110	strong		0.493	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		T	11723636	C	T	11723636	3	4	22	1	0	0	0	0	1	0	0	0	2318	536	19	1	96	1	C6orf105	6	11723636	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	532777	11723636	159391431	3429	8537										
HIVEP1	3096	hgsc.bcm.edu	37	chr6	12124587	12124587	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgttaaatcaaatccatgCaccgcctagccaccagagca	6	13	1	1	rs2228212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:12124587C>G	ENST00000379388.2	+	4	4891	c.4559C>G	c.(4558-4560)gCa>gGa	p.A1520G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1520			A -> G (in dbSNP:rs2228212). {ECO:0000269|PubMed:15489334}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAATCCATGCACCGCCTAGC	0.438													C|||	1242	0.248003	0.1982	0.3141	5008	,	,		20407	0.1796		0.3439	False		,,,				2504	0.2403				p.A1520G		Atlas-SNP	.											.	HIVEP1	242	.	0			c.C4559G						PASS	.	C	GLY/ALA	815,3079		93,629,1225	71	68	69		4559	-3.8	0	6	dbSNP_98	69	2947,5359		515,1917,1721	yes	missense	HIVEP1	NM_002114.2	60	608,2546,2946	GG,GC,CC		35.4804,20.9296,30.8361	benign	1520/2719	12124587	3762,8438	1947	4153	6100	SO:0001583	missense	3096	exon4			TCCATGCACCGCC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4559C>G	6.37:g.12124587C>G	ENSP00000368698:p.Ala1520Gly	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	77	44	0.571429	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	584	0.2673992673992674	102	0.2073170731707317	117	0.32320441988950277	92	0.16083916083916083	273	0.36015831134564646	C	8.046	0.764953	0.15914	0.209296	0.354804	ENSG00000095951	ENST00000379388	T	0.08984	3.03	5.93	-3.84	0.04256	.	2.326850	0.02143	N	0.057348	T	0.01558	0.0050	N	0.22421	0.69	0.80722	P	0.0	B	0.23806	0.091	B	0.16722	0.016	T	0.43940	-0.9360	8	.	.	.	3.6801	7.1783	0.25757	0.1612:0.3873:0.0:0.4515	rs2228212;rs17677180;rs52809676;rs2228212	1520	P15822	ZEP1_HUMAN	G	1520	ENSP00000368698:A1520G	.	A	+	2	0	HIVEP1	12232573	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.720000	0.04969	-0.373000	0.07979	-0.218000	0.12543	GCA	C|0.714;G|0.286	0.286	strong		0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		G	12124587	C	G	12124587	3	3	22	1	0	0	0	0	1	0	0	0	7186	710	25	4	4569	4	HIVEP1	6	12124587	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	400951	12124587	158990480	3430	8538										
NOL7	51406	hgsc.bcm.edu	37	chr6	13615767	13615767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaaggggacgatgagttTgacgatgaggccccggagga	19	6	0	3	rs75029999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:13615767T>C	ENST00000451315.2	+	1	209	c.177T>C	c.(175-177)ttT>ttC	p.F59F	AL441883.1_ENST00000600057.1_3'UTR|RP1-223E5.4_ENST00000566170.1_RNA	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	59						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ACGATGAGTTTGACGATGAGG	0.706											OREG0017200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	40	0.00798722	0.028	0.0043	5008	,	,		15084	0.0		0.0	False		,,,				2504	0.0				p.F59F		Atlas-SNP	.											.	NOL7	18	.	0			c.T177C						PASS	.	T		71,4223		1,69,2077	8	10	9		177	-7.7	0	6	dbSNP_132	9	1,8465		0,1,4232	no	coding-synonymous	NOL7	NM_016167.3		1,70,6309	CC,CT,TT		0.0118,1.6535,0.5643		59/258	13615767	72,12688	2147	4233	6380	SO:0001819	synonymous_variant	51406	exon1			TGAGTTTGACGAT	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"chromosome 6 open reading frame 90", "polyglutamine binding protein 3"	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.177T>C	6.37:g.13615767T>C		Somatic	48	0	0	688	WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_016167	Q5T297|Q9Y3U7	Silent	SNP	ENST00000451315.2	37	CCDS4528.1																																																																																			T|0.994;C|0.006	0.006	strong		0.706	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167		C	13615767	T	C	13615767	2	2	22	1	0	0	0	0	0	0	0	1	10526	1809	63	2		2	NOL7	6	13615767	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1491180	13615767	157499300	3431	8539										
CD83	9308	hgsc.bcm.edu	37	chr6	14131854	14131854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttctttcgacgcccccaAtgaaaggccctattccctga	8	14	1	2	rs35118414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:14131854A>G	ENST00000379153.3	+	3	428	c.257A>G	c.(256-258)aAt>aGt	p.N86S		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	86	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GACGCCCCCAATGAAAGGCCC	0.547													A|||	194	0.038738	0.0643	0.0375	5008	,	,		20463	0.0198		0.0288	False		,,,				2504	0.0348				p.N86S		Atlas-SNP	.											.	CD83	23	.	0			c.A257G						PASS	.	A	SER/ASN,SER/ASN	258,4148	149.2+/-183.4	6,246,1951	130	121	124		257,257	-1.2	0	6	dbSNP_126	124	333,8267	116.1+/-175.8	5,323,3972	yes	missense,missense	CD83	NM_001040280.1,NM_004233.3	46,46	11,569,5923	GG,GA,AA		3.8721,5.8557,4.5441	benign,benign	86/205,86/206	14131854	591,12415	2203	4300	6503	SO:0001583	missense	9308	exon3			CCCCCAATGAAAG	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.257A>G	6.37:g.14131854A>G	ENSP00000368450:p.Asn86Ser	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	138	61	0.442029	NM_004233	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	88	0.040293040293040296	33	0.06707317073170732	15	0.04143646408839779	16	0.027972027972027972	24	0.0316622691292876	A	1.969	-0.437052	0.04636	0.058557	0.038721	ENSG00000112149	ENST00000379153	T	0.60920	0.15	5.39	-1.24	0.09435	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.293720	0.01187	N	0.007226	T	0.05090	0.0136	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13308	-1.0514	10	0.08179	T	0.78	-14.691	2.083	0.03639	0.3074:0.122:0.4459:0.1246	rs35118414;rs61761633	86	Q01151	CD83_HUMAN	S	86	ENSP00000368450:N86S	ENSP00000368450:N86S	N	+	2	0	CD83	14239833	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.293000	0.08320	-0.146000	0.11274	-0.146000	0.13790	AAT	A|0.956;G|0.044	0.044	strong		0.547	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			G	14131854	A	G	14131854	3	3	22	1	0	0	0	0	1	0	0	0	3041	101	4	2	267	2	CD83	6	14131854	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	516087	14131854	156983213	3432	8540										
CD83	9308	hgsc.bcm.edu	37	chr6	14135394	14135394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctaaagctggcatggaacGagcttttctcccagttacct	8	11	2	0	rs2230193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:14135394G>A	ENST00000379153.3	+	5	716	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	182			R -> Q (in dbSNP:rs2230193).		defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGCATGGAACGAGCTTTTCTC	0.403													.|||	74	0.0147764	0.0545	0.0014	5008	,	,		21026	0.0		0.0	False		,,,				2504	0.001				p.R182Q		Atlas-SNP	.											.	CD83	23	.	0			c.G545A						PASS	.	G	GLN/ARG,GLN/ARG	202,4204	126.1+/-163.2	4,194,2005	103	105	104		542,545	-4	0	6	dbSNP_98	104	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	CD83	NM_001040280.1,NM_004233.3	43,43	4,200,6299	AA,AG,GG		0.0698,4.5847,1.5993	benign,benign	181/205,182/206	14135394	208,12798	2203	4300	6503	SO:0001583	missense	9308	exon5			TGGAACGAGCTTT	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.545G>A	6.37:g.14135394G>A	ENSP00000368450:p.Arg182Gln	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	106	48	0.45283	NM_004233	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	G	9.394	1.076332	0.20227	0.045847	6.98E-4	ENSG00000112149	ENST00000379153	T	0.48201	0.82	5.0	-3.99	0.04069	.	1.449440	0.04161	N	0.322989	T	0.09862	0.0242	N	0.17082	0.46	0.09310	N	1	B	0.21147	0.052	B	0.10450	0.005	T	0.10200	-1.0640	10	0.25106	T	0.35	-23.8615	5.7782	0.18292	0.4997:0.2613:0.239:0.0	rs2230193;rs16874698;rs52804483;rs16874698	182	Q01151	CD83_HUMAN	Q	182	ENSP00000368450:R182Q	ENSP00000368450:R182Q	R	+	2	0	CD83	14243373	0.210000	0.23517	0.017000	0.16124	0.481000	0.33189	0.050000	0.14120	-0.988000	0.03489	-0.150000	0.13652	CGA	G|0.982;A|0.018	0.018	strong		0.403	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			A	14135394	G	A	14135394	3	1	22	1	0	0	0	0	1	0	0	0	3041	1058	37	1	563	1	CD83	6	14135394	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3540	14135394	156979673	3433	8541										
JARID2	3720	hgsc.bcm.edu	37	chr6	15517415	15517415	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacaagagaacgaaaacgtCgtgttctgtctggagtgtgc	13	7	2	1	rs11970076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:15517415C>T	ENST00000341776.2	+	17	3718	c.3474C>T	c.(3472-3474)gtC>gtT	p.V1158V	JARID2_ENST00000397311.3_Silent_p.V986V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1158					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGAAAACGTCGTGTTCTGTC	0.597													C|||	80	0.0159744	0.0575	0.0043	5008	,	,		17419	0.0		0.001	False		,,,				2504	0.0				p.V1158V		Atlas-SNP	.											.	JARID2	135	.	0			c.C3474T						PASS	.	C		229,4177	134.1+/-170.4	6,217,1980	179	140	153		3474	-3.5	1	6	dbSNP_120	153	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	JARID2	NM_004973.2		6,220,6277	TT,TC,CC		0.0349,5.1975,1.7838		1158/1247	15517415	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	3720	exon17			AAACGTCGTGTTC	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3474C>T	6.37:g.15517415C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	136	74	0.544118	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	CCDS4533.1																																																																																			C|0.983;T|0.017	0.017	strong		0.597	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15517415	C	T	15517415	2	4	22	1	0	0	0	0	0	0	0	1	7945	871	31	1		1	JARID2	6	15517415	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1382021	15517415	155597652	3434	8542										
DTNBP1	84062	hgsc.bcm.edu	37	chr6	15523388	15523388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagaaggtggcttggctcTtaattctgagggatttggaa	14	4	2	3	rs73369534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:15523388T>C	ENST00000344537.5	-	10	1046	c.874A>G	c.(874-876)Aga>Gga	p.R292G	DTNBP1_ENST00000355917.3_Missense_Mutation_p.R293G|DTNBP1_ENST00000462989.2_Missense_Mutation_p.R136G	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	292	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGCTTGGCTCTTAATTCTGAG	0.532									Hermansky-Pudlak syndrome				t|||	140	0.0279553	0.0998	0.0086	5008	,	,		19166	0.0		0.002	False		,,,				2504	0.0				p.R292G		Atlas-SNP	.											.	DTNBP1	56	.	0			c.A874G						PASS	.	T	GLY/ARG	400,4006	196.4+/-220.7	18,364,1821	154	163	160		874	2.4	0	6	dbSNP_130	160	5,8595	4.3+/-15.6	0,5,4295	yes	missense	DTNBP1	NM_032122.4	125	18,369,6116	CC,CT,TT		0.0581,9.0785,3.1139	possibly-damaging	292/352	15523388	405,12601	2203	4300	6503	SO:0001583	missense	84062	exon10	Familial Cancer Database	HPS, HPS1-8	TGGCTCTTAATTC	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.874A>G	6.37:g.15523388T>C	ENSP00000341680:p.Arg292Gly	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	133	55	0.413534	NM_032122	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	CCDS4534.1	37	0.01694139194139194	33	0.06707317073170732	4	0.011049723756906077	0	0.0	0	0.0	t	12.91	2.078161	0.36662	0.090785	5.81E-4	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306;ENST00000509674	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.42	2.43	0.29744	.	1.442950	0.04672	N	0.410792	T	0.21387	0.0515	M	0.75447	2.3	0.09310	N	1	B	0.25390	0.125	B	0.31390	0.129	T	0.44081	-0.9351	10	0.49607	T	0.09	.	10.1887	0.43013	0.0:0.118:0.41:0.472	.	292	Q96EV8	DTBP1_HUMAN	G	292;136;293;211;109	ENSP00000341680:R292G;ENSP00000427239:R136G;ENSP00000348183:R293G;ENSP00000421797:R109G	ENSP00000341680:R292G	R	-	1	2	DTNBP1	15631367	0.149000	0.22717	0.000000	0.03702	0.104000	0.19210	2.937000	0.48979	0.621000	0.30232	-0.224000	0.12420	AGA	T|0.967;C|0.033	0.033	strong		0.532	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		C	15523388	T	C	15523388	3	2	22	1	0	0	0	0	1	0	0	0	4790	1617	56	3	185	3	DTNBP1	6	15523388	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5973	15523388	155591679	3435	8543										
DTNBP1	84062	hgsc.bcm.edu	37	chr6	15533469	15533469	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagccccagcccccactcGcctcgccgctctgcaatctg	8	21	2	0	rs61739410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:15533469G>A	ENST00000344537.5	-	8	840		c.e8+1		DTNBP1_ENST00000355917.3_Splice_Site|DTNBP1_ENST00000338950.5_Splice_Site|DTNBP1_ENST00000462989.2_Splice_Site	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCCCCCACTCGCCTCGCCGCT	0.627									Hermansky-Pudlak syndrome				G|||	140	0.0279553	0.0991	0.0086	5008	,	,		13972	0.0		0.002	False		,,,				2504	0.001				.		Atlas-SNP	.											.	DTNBP1	56	.	0			c.667+2C>T						PASS	.	G	,	389,4017	194.0+/-219.0	16,357,1830	70	61	64		,	1.8	0.5	6	dbSNP_129	64	6,8594	5.0+/-18.6	0,6,4294	yes	splice-5,splice-5	DTNBP1	NM_032122.4,NM_183040.2	,	16,363,6124	AA,AG,GG		0.0698,8.8289,3.0371	,	,	15533469	395,12611	2203	4300	6503	SO:0001630	splice_region_variant	84062	exon9	Familial Cancer Database	HPS, HPS1-8	CCACTCGCCTCGC	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.667+1C>T	6.37:g.15533469G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_032122	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Splice_Site	SNP	ENST00000344537.5	37	CCDS4534.1	35	0.016025641025641024	30	0.06097560975609756	5	0.013812154696132596	0	0.0	0	0.0	G	4.160	0.028237	0.08054	0.088289	6.98E-4	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306;ENST00000509674;ENST00000511762;ENST00000338950;ENST00000543749	.	.	.	5.49	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.453	0.32882	0.4003:0.0:0.5997:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DTNBP1	15641448	1.000000	0.71417	0.499000	0.27577	0.023000	0.10783	2.892000	0.48625	0.001000	0.14605	-0.218000	0.12543	.	G|0.969;A|0.031	0.031	strong		0.627	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122	Intron	A	15533469	G	A	15533469	5	1	22	1	0	0	0	0	0	0	1	0	4790	1101	38	1	499	1	DTNBP1	6	15533469	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10081	15533469	155581598	3436	8544										
MYLIP	29116	hgsc.bcm.edu	37	chr6	16145325	16145325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggacctcgtttcaagaaAcaaccagagcccttcacact	7	13	2	2	rs9370867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:16145325A>G	ENST00000356840.3	+	6	1223	c.1025A>G	c.(1024-1026)aAc>aGc	p.N342S	MYLIP_ENST00000349606.4_Missense_Mutation_p.N161S	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	342			N -> S (in dbSNP:rs9370867). {ECO:0000269|PubMed:10593918, ECO:0000269|PubMed:11042152, ECO:0000269|PubMed:15498874, ECO:0000269|Ref.2}.		cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTTCAAGAAACAACCAGAGC	0.517													G|||	3856	0.769968	0.9652	0.6945	5008	,	,		22511	0.9435		0.4861	False		,,,				2504	0.6728				p.N342S		Atlas-SNP	.											.	MYLIP	44	.	0			c.A1025G						PASS	.	G	SER/ASN	3906,500	231.7+/-245.5	1738,430,35	100	103	102		1025	3.8	0	6	dbSNP_119	102	4094,4506	593.3+/-393.1	967,2160,1173	yes	missense	MYLIP	NM_013262.3	46	2705,2590,1208	GG,GA,AA		47.6047,11.3482,38.4899	benign	342/446	16145325	8000,5006	2203	4300	6503	SO:0001583	missense	29116	exon6			CAAGAAACAACCA	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1025A>G	6.37:g.16145325A>G	ENSP00000349298:p.Asn342Ser	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_013262	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	1620	0.7417582417582418	469	0.9532520325203252	239	0.6602209944751382	541	0.9458041958041958	371	0.4894459102902375	G	0.035	-1.312768	0.01331	0.886518	0.476047	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.81908	-1.55;1.16	5.65	3.85	0.44370	.	0.514420	0.25666	N	0.029102	T	0.39200	0.1069	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08868	-1.0701	9	0.02654	T	1	.	9.9368	0.41556	0.1268:0.1148:0.7584:0.0	rs9370867;rs59084742;rs9370867	342	Q8WY64	MYLIP_HUMAN	S	342;161	ENSP00000349298:N342S;ENSP00000008686:N161S	ENSP00000008686:N161S	N	+	2	0	MYLIP	16253304	0.018000	0.18449	0.000000	0.03702	0.446000	0.32137	1.572000	0.36461	0.415000	0.25817	-0.119000	0.15052	AAC	A|0.313;G|0.687	0.687	strong		0.517	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		G	16145325	A	G	16145325	3	3	22	1	0	0	0	0	1	0	0	0	10055	43	2	2	1047	2	MYLIP	6	16145325	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	611856	16145325	154969742	3437	8545										
GMPR	2766	hgsc.bcm.edu	37	chr6	16279097	16279097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtgtgccgactctgcccaTggcctgaagggccacatcat	12	13	2	1	rs739473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:16279097T>C	ENST00000259727.4	+	6	744	c.630T>C	c.(628-630)caT>caC	p.H210H		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	210					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ACTCTGCCCATGGCCTGAAGG	0.617													T|||	447	0.0892572	0.2171	0.0245	5008	,	,		20534	0.0685		0.0219	False		,,,				2504	0.0532				p.H210H		Atlas-SNP	.											.	GMPR	44	.	0			c.T630C						PASS	.	T		757,3649	311.6+/-292.2	65,627,1511	81	74	76		630	-8.1	0.6	6	dbSNP_86	76	154,8446	73.5+/-136.2	1,152,4147	no	coding-synonymous	GMPR	NM_006877.3		66,779,5658	CC,CT,TT		1.7907,17.1811,7.0045		210/346	16279097	911,12095	2203	4300	6503	SO:0001819	synonymous_variant	2766	exon6			TGCCCATGGCCTG		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.630T>C	6.37:g.16279097T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_006877	Q96HQ6	Silent	SNP	ENST00000259727.4	37	CCDS4537.1																																																																																			T|0.909;C|0.091	0.091	strong		0.617	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			C	16279097	T	C	16279097	2	2	22	1	0	0	0	0	0	0	0	1	6496	1461	51	2		2	GMPR	6	16279097	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	133772	16279097	154835970	3438	8546										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327915	16327916	+	In_Frame_Ins	INS	-	-	TGC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgctgctgatgctgaINStgctgctgctgctgctgctg					rs11969612|rs369629396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:16327915_16327916insTGC	ENST00000244769.4	-	8	1562_1563	c.626_627insGCA	c.(625-627)cat>caGCAt	p.208_209insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.208_209insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgctg	0.668																																					p.H209delinsQH		Pindel,Atlas-Indel	.											ATXN1,colon,carcinoma,0,1	ATXN1	117	1	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_628insGCA						PASS	.																																			SO:0001652	inframe_insertion	6310	exon7			.	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626dupGCA	6.37:g.16327922_16327924dupTGC	ENSP00000244769:p.Gln209_Gln210dup	Somatic	69	.	.		WXS	Illumina HiSeq	Phase_I	68	14	0.206	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.	.	weak		0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327916	-	TGC	16327915	7	5	22	1	0	1	1	0	0	0	0	0	1209	330	12	0	1828	0	ATXN1	6	16327915	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	48818	16327915	154787152	3439	8547	159	2								
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgctgctgatgctgatgCtgctgctgctgctgctgctg					rs28555263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442				p.Q208H		Atlas-SNP	.											ATXN1,rectum,carcinoma,0,1	ATXN1	117	1	0			c.G624T						scavenged	.						5	8	7					6																	16327918		1579	3505	5084	SO:0001583	missense	6310	exon7			CTGATGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His	Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	65	7	0.107692	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG	C|0.500;A|0.500	0.500	weak		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327918	C	A	16327918	3	1	22	1	0	0	0	0	1	0	0	0	1209	796	28	4	1831	4	ATXN1	6	16327918	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	16327918	154787149	3440	8548	159	2								
ATXN1	6310	hgsc.bcm.edu	37	chr6	16328115	16328115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggatcagctgtgatgggaTgaagctggcataggttccac	16	7	1	2	rs143125796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:16328115T>C	ENST00000244769.4	-	8	1363	c.427A>G	c.(427-429)Atc>Gtc	p.I143V	ATXN1_ENST00000436367.1_Missense_Mutation_p.I143V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	143					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTGATGGGATGAAGCTGGCA	0.657													T|||	2	0.000399361	0.0015	0.0	5008	,	,		14675	0.0		0.0	False		,,,				2504	0.0				p.I143V		Atlas-SNP	.											.	ATXN1	117	.	0			c.A427G						PASS	.	T	VAL/ILE,VAL/ILE	4,4402	8.1+/-20.4	0,4,2199	73	79	77		427,427	1	1	6	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense	ATXN1	NM_000332.3,NM_001128164.1	29,29	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging	143/816,143/816	16328115	4,13002	2203	4300	6503	SO:0001583	missense	6310	exon7			ATGGGATGAAGCT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.427A>G	6.37:g.16328115T>C	ENSP00000244769:p.Ile143Val	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	51	24	0.470588	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	8.212	0.800596	0.16397	9.08E-4	0.0	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.45276	0.9;0.9	5.11	1.04	0.20106	.	0.101815	0.64402	D	0.000004	T	0.14874	0.0359	L	0.46157	1.445	0.41711	D	0.989452	B	0.27229	0.172	B	0.18871	0.023	T	0.04635	-1.0937	10	0.38643	T	0.18	-15.4984	7.2098	0.25927	0.0:0.0733:0.2756:0.6511	.	143	P54253	ATX1_HUMAN	V	143	ENSP00000244769:I143V;ENSP00000416360:I143V	ENSP00000244769:I143V	I	-	1	0	ATXN1	16436094	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	3.031000	0.49728	0.264000	0.21851	-0.456000	0.05471	ATC	T|0.999;C|0.001	0.001	strong		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16328115	T	C	16328115	3	2	22	1	0	0	0	0	1	0	0	0	1209	1464	51	2	2028	2	ATXN1	6	16328115	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	197	16328115	154786952	3441	8549										
CAP2	10486	hgsc.bcm.edu	37	chr6	17426846	17426846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccctccgtggaagccttTgacaagctgatggacagtat	11	11	0	2	rs59744718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:17426846T>C	ENST00000229922.2	+	3	679	c.147T>C	c.(145-147)ttT>ttC	p.F49F	CAP2_ENST00000489374.1_Silent_p.F49F|CAP2_ENST00000493172.1_Silent_p.F49F|CAP2_ENST00000378990.2_Silent_p.F49F|CAP2_ENST00000465994.1_Silent_p.F49F	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	49					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGGAAGCCTTTGACAAGCTGA	0.537													T|||	173	0.0345447	0.0915	0.0173	5008	,	,		18857	0.0308		0.003	False		,,,				2504	0.0061				p.F49F		Atlas-SNP	.											.	CAP2	61	.	0			c.T147C						PASS	.	T		352,4054	181.9+/-209.8	13,326,1864	113	102	105		147	1.8	1	6	dbSNP_129	105	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	CAP2	NM_006366.2		13,340,6150	CC,CT,TT		0.1628,7.9891,2.8141		49/478	17426846	366,12640	2203	4300	6503	SO:0001819	synonymous_variant	10486	exon3			AGCCTTTGACAAG	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.147T>C	6.37:g.17426846T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																			T|0.967;C|0.033	0.033	strong		0.537	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			C	17426846	T	C	17426846	2	2	22	1	0	0	0	0	0	0	0	1	2620	1809	63	2		2	CAP2	6	17426846	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1098731	17426846	153688221	3442	8550										
CAP2	10486	hgsc.bcm.edu	37	chr6	17507504	17507504	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtttaatcatctttcggcCgtcagcgaaagcatccctgc	8	12	3	0	rs146710056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:17507504C>G	ENST00000229922.2	+	5	937	c.405C>G	c.(403-405)gcC>gcG	p.A135A	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Silent_p.A135A|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Silent_p.A109A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	135					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATCTTTCGGCCGTCAGCGAAA	0.483													C|||	4	0.000798722	0.003	0.0	5008	,	,		19667	0.0		0.0	False		,,,				2504	0.0				p.A135A		Atlas-SNP	.											.	CAP2	61	.	0			c.C405G						PASS	.	C		18,4388	26.2+/-53.5	0,18,2185	128	102	111		405	-3.8	0.8	6	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAP2	NM_006366.2		0,19,6484	GG,GC,CC		0.0116,0.4085,0.1461		135/478	17507504	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	10486	exon5			TTCGGCCGTCAGC	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.405C>G	6.37:g.17507504C>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	128	66	0.515625	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																			C|0.998;G|0.002	0.002	strong		0.483	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			G	17507504	C	G	17507504	2	3	22	1	0	0	0	0	0	0	0	1	2620	639	23	4		4	CAP2	6	17507504	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	80658	17507504	153607563	3443	8551										
CAP2	10486	hgsc.bcm.edu	37	chr6	17541324	17541324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccacatctcctaaatcttAtccttctcaaaaacatgccc	1	16	3	0	rs34206659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:17541324A>G	ENST00000229922.2	+	9	1479	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	CAP2_ENST00000465994.1_Missense_Mutation_p.Y252C|CAP2_ENST00000489374.1_Missense_Mutation_p.Y204C|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.Y290C	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	316			Y -> C (in dbSNP:rs34206659).		activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCTAAATCTTATCCTTCTCAA	0.453													A|||	101	0.0201677	0.0446	0.0202	5008	,	,		18252	0.0		0.0278	False		,,,				2504	0.0				p.Y316C		Atlas-SNP	.											.	CAP2	61	.	0			c.A947G						PASS	.	A	CYS/TYR	213,4193	131.0+/-167.6	6,201,1996	148	130	136		947	-5.5	0	6	dbSNP_126	136	166,8434	77.2+/-139.8	1,164,4135	yes	missense	CAP2	NM_006366.2	194	7,365,6131	GG,GA,AA		1.9302,4.8343,2.914	benign	316/478	17541324	379,12627	2203	4300	6503	SO:0001583	missense	10486	exon9			AATCTTATCCTTC	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.947A>G	6.37:g.17541324A>G	ENSP00000229922:p.Tyr316Cys	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	173	89	0.514451	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	52	0.023809523809523808	25	0.0508130081300813	9	0.024861878453038673	0	0.0	18	0.023746701846965697	a	6.187	0.402667	0.11696	0.048343	0.019302	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.56	-5.54	0.02544	.	0.914521	0.09670	N	0.771298	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B;P;B;B	0.36010	0.064;0.532;0.427;0.427	B;B;B;B	0.30251	0.006;0.06;0.113;0.113	T	0.47983	-0.9074	10	0.38643	T	0.18	0.1298	7.3393	0.26627	0.1983:0.6213:0.0763:0.1041	rs34206659	204;252;290;316	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	C	316;233;204;290;252	ENSP00000229922:Y316C;ENSP00000417705:Y204C;ENSP00000368275:Y290C;ENSP00000418604:Y252C	ENSP00000229922:Y316C	Y	+	2	0	CAP2	17649303	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	0.769000	0.26604	-0.443000	0.07180	0.460000	0.39030	TAT	A|0.971;G|0.029	0.029	strong		0.453	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			G	17541324	A	G	17541324	3	3	22	1	0	0	0	0	1	0	0	0	2620	449	16	2	977	2	CAP2	6	17541324	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33820	17541324	153573743	3444	8552										
NUP153	9972	hgsc.bcm.edu	37	chr6	17675553	17675553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtgagaacgttcagcttcTggggaccacagaggtggcaa	15	8	2	2	rs61748704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:17675553T>C	ENST00000262077.2	-	4	629	c.630A>G	c.(628-630)ccA>ccG	p.P210P	NUP153_ENST00000537253.1_Silent_p.P210P	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	210					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAGCTTCTGGGGACCACA	0.418													T|||	69	0.013778	0.0182	0.0187	5008	,	,		15245	0.0		0.0179	False		,,,				2504	0.0143				p.P210P		Atlas-SNP	.											.	NUP153	116	.	0			c.A630G						PASS	.	T		81,4325	69.8+/-107.6	0,81,2122	151	151	151		630	2.1	1	6	dbSNP_129	151	227,8373	93.5+/-155.5	2,223,4075	no	coding-synonymous	NUP153	NM_005124.2		2,304,6197	CC,CT,TT		2.6395,1.8384,2.3681		210/1476	17675553	308,12698	2203	4300	6503	SO:0001819	synonymous_variant	9972	exon4			AGCTTCTGGGGAC	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.630A>G	6.37:g.17675553T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	141	74	0.524823	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																			T|0.978;C|0.022	0.022	strong		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			C	17675553	T	C	17675553	2	2	22	1	0	0	0	0	0	0	0	1	10755	1567	55	3		3	NUP153	6	17675553	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	134229	17675553	153439514	3445	8553										
TPMT	7172	hgsc.bcm.edu	37	chr6	18139214	18139214	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttgcgatcacctggattGatggcaactaatgctcctct	8	11	2	1	rs2842934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:18139214G>A	ENST00000309983.4	-	6	559	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	158					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CACCTGGATTGATGGCAACTA	0.313													A|||	3771	0.752995	0.8101	0.7767	5008	,	,		19152	0.7619		0.7763	False		,,,				2504	0.6258				p.I158I	Colon(190;1381 2791 16728 32493)	Atlas-SNP	.											.	TPMT	17	.	0			c.C474T						PASS	.	A		3558,846	332.0+/-302.3	1434,690,78	82	83	83		474	-2	0.1	6	dbSNP_100	83	6771,1829	328.9+/-318.5	2670,1431,199	no	coding-synonymous	TPMT	NM_000367.2		4104,2121,277	AA,AG,GG		21.2674,19.2098,20.5706		158/246	18139214	10329,2675	2202	4300	6502	SO:0001819	synonymous_variant	7172	exon6			TGGATTGATGGCA		CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.474C>T	6.37:g.18139214G>A		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	262	132	0.503817	NM_000367	O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Silent	SNP	ENST00000309983.4	37	CCDS4543.1																																																																																			G|0.250;A|0.750	0.750	strong		0.313	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039960.1			A	18139214	G	A	18139214	2	1	22	1	0	0	0	0	0	0	0	1	16406	1280	45	2		2	TPMT	6	18139214	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	463661	18139214	152975853	3446	8554										
KDM1B	221656	hgsc.bcm.edu	37	chr6	18213988	18213988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaagcgagggctttttgcCgtgttctatgacatggatcc	12	9	1	1	rs6903583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:18213988C>T	ENST00000297792.5	+	15	1566	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	KDM1B_ENST00000397244.1_Silent_p.A464A|KDM1B_ENST00000388870.2_Silent_p.A696A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	695					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGCTTTTTGCCGTGTTCTATG	0.423													C|||	701	0.139976	0.2118	0.1715	5008	,	,		19432	0.005		0.2107	False		,,,				2504	0.0869				p.A463A		Atlas-SNP	.											.	KDM1B	58	.	0			c.C1389T						PASS	.	C		912,3494	352.1+/-311.5	106,700,1397	170	164	166		1389	-1.9	0.9	6	dbSNP_116	166	1918,6682	340.5+/-323.6	226,1466,2608	no	coding-synonymous	KDM1B	NM_153042.3		332,2166,4005	TT,TC,CC		22.3023,20.699,21.7592		463/591	18213988	2830,10176	2203	4300	6503	SO:0001819	synonymous_variant	221656	exon15			TTTTGCCGTGTTC	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1389C>T	6.37:g.18213988C>T		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	242	107	0.442149	NM_153042	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	CCDS34343.1	348	0.15934065934065933	101	0.20528455284552846	72	0.19889502762430938	2	0.0034965034965034965	173	0.22823218997361477	C	11.72	1.721985	0.30503	0.20699	0.223023	ENSG00000165097	ENST00000449850	.	.	.	5.88	-1.92	0.07618	.	.	.	.	.	T	0.19327	0.0464	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.19063	-1.0317	3	.	.	.	-23.6373	7.6149	0.28152	0.0:0.4205:0.126:0.4534	rs6903583;rs6903583	.	.	.	L	513	.	.	P	+	2	0	KDM1B	18321967	0.306000	0.24490	0.946000	0.38457	0.991000	0.79684	-0.426000	0.07008	-0.302000	0.08869	-0.238000	0.12139	CCG	C|0.808;T|0.192	0.192	strong		0.423	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		T	18213988	C	T	18213988	2	4	22	1	0	0	0	0	0	0	0	1	8123	639	23	1		1	KDM1B	6	18213988	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74774	18213988	152901079	3447	8555										
DEK	7913	hgsc.bcm.edu	37	chr6	18237661	18237661	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtgctgctatctgctttCttaacattggcacttttcac	8	10	3	0	rs1013062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:18237661C>T	ENST00000397239.3	-	8	1296	c.849G>A	c.(847-849)aaG>aaA	p.K283K	DEK_ENST00000244776.7_Silent_p.K249K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	283					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TATCTGCTTTCTTAACATTGG	0.313			T	NUP214	AML								C|||	823	0.164337	0.0295	0.1124	5008	,	,		18170	0.247		0.2087	False		,,,				2504	0.2526				p.K283K		Atlas-SNP	.		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	DEK	31	.	0			c.G849A						PASS	.	C	,	280,4124	155.9+/-189.0	6,268,1928	218	189	199		747,849	4	1	6	dbSNP_86	199	1791,6809	322.2+/-315.5	196,1399,2705	no	coding-synonymous,coding-synonymous	DEK	NM_001134709.1,NM_003472.3	,	202,1667,4633	TT,TC,CC		20.8256,6.3579,15.9259	,	249/342,283/376	18237661	2071,10933	2202	4300	6502	SO:0001819	synonymous_variant	7913	exon8			TGCTTTCTTAACA	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.849G>A	6.37:g.18237661C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	215	115	0.534884	NM_003472	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	CCDS34344.1																																																																																			C|0.837;T|0.163	0.163	strong		0.313	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			T	18237661	C	T	18237661	2	4	22	1	0	0	0	0	0	0	0	1	4424	912	32	2		2	DEK	6	18237661	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23673	18237661	152877406	3448	8556										
DEK	7913	hgsc.bcm.edu	37	chr6	18264210	18264210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctccgcagcaggggccgaGgcggacatgctgtgaacctg	15	14	0	1	rs11544757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:18264210G>A	ENST00000397239.3	-	2	456	c.9C>T	c.(7-9)gcC>gcT	p.A3A	DEK_ENST00000244776.7_Silent_p.A3A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	3					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CAGGGGCCGAGGCGGACATGC	0.672			T	NUP214	AML								G|||	824	0.164537	0.031	0.1124	5008	,	,		12151	0.246		0.2087	False		,,,				2504	0.2526				p.A3A		Atlas-SNP	.		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	DEK	31	.	0			c.C9T						PASS	.	G	,	297,4109	154.0+/-187.5	10,277,1916	25	27	26		9,9	-1.1	0	6	dbSNP_120	26	1789,6811	306.2+/-307.8	198,1393,2709	no	coding-synonymous,coding-synonymous	DEK	NM_001134709.1,NM_003472.3	,	208,1670,4625	AA,AG,GG		20.8023,6.7408,16.0388	,	3/342,3/376	18264210	2086,10920	2203	4300	6503	SO:0001819	synonymous_variant	7913	exon2			GGCCGAGGCGGAC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.9C>T	6.37:g.18264210G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_003472	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	CCDS34344.1																																																																																			G|0.838;C|0.000;A|0.162	0.162	strong		0.672	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			A	18264210	G	A	18264210	2	1	22	1	0	0	0	0	0	0	0	1	4424	987	35	2		2	DEK	6	18264210	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26549	18264210	152850857	3449	8557										
MBOAT1	154141	hgsc.bcm.edu	37	chr6	20109842	20109842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttacttgtataagctgaTggtcggttcaactgccaaca	8	9	1	1	rs2065649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:20109842T>C	ENST00000324607.7	-	12	1512	c.1348A>G	c.(1348-1350)Atc>Gtc	p.I450V	MBOAT1_ENST00000541730.1_Missense_Mutation_p.I301V	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	450			I -> V (in dbSNP:rs2065649).		glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATAAGCTGATGGTCGGTTCA	0.468													T|||	239	0.0477236	0.1641	0.0259	5008	,	,		18796	0.0		0.004	False		,,,				2504	0.0				p.I450V		Atlas-SNP	.											.	MBOAT1	48	.	0			c.A1348G						PASS	.	T	VAL/ILE	691,3715	289.5+/-280.5	54,583,1566	149	133	139		1348	3	1	6	dbSNP_94	139	13,8587	9.8+/-36.6	0,13,4287	yes	missense	MBOAT1	NM_001080480.1	29	54,596,5853	CC,CT,TT		0.1512,15.6832,5.4129	benign	450/496	20109842	704,12302	2203	4300	6503	SO:0001583	missense	154141	exon12			AGCTGATGGTCGG	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1348A>G	6.37:g.20109842T>C	ENSP00000324944:p.Ile450Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	102	47	0.460784	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	75	0.034340659340659344	66	0.13414634146341464	9	0.024861878453038673	0	0.0	0	0.0	T	12.51	1.960413	0.34565	0.156832	0.001512	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.18502	2.21;2.68	5.38	2.96	0.34315	.	0.312699	0.38548	N	0.001653	T	0.06142	0.0159	L	0.61036	1.89	0.09310	P	0.9999999999999988	B;B	0.18741	0.03;0.006	B;B	0.20577	0.03;0.003	T	0.17198	-1.0377	9	0.39692	T	0.17	-7.5096	4.338	0.11095	0.0:0.238:0.164:0.598	rs2065649;rs2065649	301;450	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	V	301;450	ENSP00000441568:I301V;ENSP00000324944:I450V	ENSP00000324944:I450V	I	-	1	0	MBOAT1	20217821	0.259000	0.24043	0.995000	0.50966	0.991000	0.79684	-0.065000	0.11617	0.409000	0.25649	0.533000	0.62120	ATC	T|0.949;C|0.051	0.051	strong		0.468	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			C	20109842	T	C	20109842	3	2	22	1	0	0	0	0	1	0	0	0	9356	1464	51	2	147	2	MBOAT1	6	20109842	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1845632	20109842	151005225	3450	8558										
CDKAL1	54901	hgsc.bcm.edu	37	chr6	21201493	21201493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagcaaagggagaagtctcGggtttgacaaaggtaagtaa	13	5	1	2	rs9465994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:21201493G>A	ENST00000378610.1	+	13	1546	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	CDKAL1_ENST00000378624.4_Silent_p.S421S|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000274695.4_Silent_p.S512S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	512					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GAGAAGTCTCGGGTTTGACAA	0.458													A|||	2662	0.53155	0.8139	0.5937	5008	,	,		18594	0.4018		0.4503	False		,,,				2504	0.3231				p.S512S		Atlas-SNP	.											CDKAL1,NS,carcinoma,+1,1	CDKAL1	55	1	0			c.G1536A						PASS	.	A		3311,1095	395.8+/-329.8	1254,803,146	107	88	94		1536	-12.3	0	6	dbSNP_119	94	3915,4685	605.4+/-395.0	895,2125,1280	no	coding-synonymous	CDKAL1	NM_017774.3		2149,2928,1426	AA,AG,GG		45.5233,24.8525,44.441		512/580	21201493	7226,5780	2203	4300	6503	SO:0001819	synonymous_variant	54901	exon15			AGTCTCGGGTTTG	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1536G>A	6.37:g.21201493G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_017774	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	CCDS4546.1																																																																																			G|0.451;A|0.549	0.549	strong		0.458	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		A	21201493	G	A	21201493	2	1	22	1	0	0	0	0	0	0	0	1	3152	1103	39	1		1	CDKAL1	6	21201493	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1091651	21201493	149913574	3451	8559										
DCDC2	51473	hgsc.bcm.edu	37	chr6	24175021	24175021	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcttctggactggtaatTtttacttctggccttggtgg	10	7	3	0	rs9460973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24175021T>A	ENST00000378454.3	-	10	1669	c.1368A>T	c.(1366-1368)aaA>aaT	p.K456N	DCDC2_ENST00000378450.3_Missense_Mutation_p.K209N	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	456			K -> N (in dbSNP:rs9460973).		cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTGGTAATTTTTACTTCTG	0.378													T|||	717	0.143171	0.4947	0.0548	5008	,	,		14734	0.0		0.0249	False		,,,				2504	0.0				p.K456N		Atlas-SNP	.											.	DCDC2	53	.	0			c.A1368T						PASS	.	T	ASN/LYS,ASN/LYS	1840,2566	536.5+/-374.5	383,1074,746	180	158	165		1368,1368	3.3	1	6	dbSNP_119	165	246,8354	98.4+/-159.9	5,236,4059	yes	missense,missense	DCDC2	NM_001195610.1,NM_016356.3	94,94	388,1310,4805	AA,AT,TT		2.8605,41.7612,16.0388	benign,benign	456/477,456/477	24175021	2086,10920	2203	4300	6503	SO:0001583	missense	51473	exon11			GGTAATTTTTACT	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1368A>T	6.37:g.24175021T>A	ENSP00000367715:p.Lys456Asn	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_001195610	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	287	0.13141025641025642	245	0.49796747967479676	24	0.06629834254143646	0	0.0	18	0.023746701846965697	T	15.60	2.881600	0.51908	0.417612	0.028605	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.52526	4.1;0.66	5.67	3.29	0.37713	.	0.447465	0.21854	N	0.068137	T	0.23688	0.0573	L	0.27053	0.805	0.47698	P	5.060000000000064E-4	P;P	0.50369	0.839;0.934	B;P	0.50490	0.351;0.642	T	0.07214	-1.0784	9	0.36615	T	0.2	-10.8947	7.2128	0.25943	0.0:0.1737:0.0:0.8263	rs9460973;rs52810021;rs9460973	456;209	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	N	456;209	ENSP00000367715:K456N;ENSP00000367711:K209N	ENSP00000367711:K209N	K	-	3	2	DCDC2	24283000	0.987000	0.35691	0.979000	0.43373	0.984000	0.73092	1.093000	0.30939	0.440000	0.26502	0.533000	0.62120	AAA	T|0.853;A|0.147	0.147	strong		0.378	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		A	24175021	T	A	24175021	3	1	22	1	0	0	0	0	1	0	0	0	4285	1838	64	5	66	5	DCDC2	6	24175021	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2973528	24175021	146940046	3452	8560										
MRS2	57380	hgsc.bcm.edu	37	chr6	24403377	24403377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtgacctctgtgggtcctCccgttgctgcctgcggccgc	13	16	1	1	rs2295651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24403377C>T	ENST00000378386.3	+	1	196	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	MRS2_ENST00000274747.7_Missense_Mutation_p.P35S|MRS2_ENST00000378353.1_Missense_Mutation_p.P35S|MRS2_ENST00000535061.1_Missense_Mutation_p.P35S|MRS2_ENST00000443868.2_Missense_Mutation_p.P35S|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	35			P -> S (in dbSNP:rs2295651).			integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGTGGGTCCTCCCGTTGCTGC	0.697													C|||	353	0.0704872	0.0711	0.0259	5008	,	,		16380	0.122		0.0089	False		,,,				2504	0.1115				p.P35S		Atlas-SNP	.											.	MRS2	31	.	0			c.C103T						PASS	.	C	SER/PRO	253,4153	137.3+/-173.1	10,233,1960	37	36	37		103	3.2	0	6	dbSNP_100	37	72,8526	41.7+/-99.0	0,72,4227	yes	missense	MRS2	NM_020662.2	74	10,305,6187	TT,TC,CC		0.8374,5.7422,2.4992	benign	35/444	24403377	325,12679	2203	4299	6502	SO:0001583	missense	57380	exon1			GGTCCTCCCGTTG	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.103C>T	6.37:g.24403377C>T	ENSP00000367637:p.Pro35Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	CCDS4552.1	136	0.06227106227106227	41	0.08333333333333333	13	0.03591160220994475	73	0.12762237762237763	9	0.011873350923482849	C	12.31	1.899706	0.33535	0.057422	0.008374	ENSG00000124532	ENST00000274747;ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T;T	0.45276	0.9;1.42;1.59;1.01;1.58	5.0	3.17	0.36434	.	0.795244	0.10907	N	0.621033	T	0.13286	0.0322	N	0.24115	0.695	0.46609	P	8.709999999999551E-4	B;B;B;B	0.29301	0.002;0.241;0.144;0.0	B;B;B;B	0.27500	0.002;0.08;0.037;0.002	T	0.09640	-1.0665	9	0.51188	T	0.08	-0.2459	7.8229	0.29298	0.0:0.8047:0.0:0.1953	rs2295651;rs2295651	35;35;35;35	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	S	35	ENSP00000274747:P35S;ENSP00000441839:P35S;ENSP00000367637:P35S;ENSP00000367604:P35S;ENSP00000399585:P35S	ENSP00000274747:P35S	P	+	1	0	MRS2	24511356	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.180000	0.09754	1.309000	0.44985	0.643000	0.83706	CCC	C|0.961;T|0.039	0.039	strong		0.697	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			T	24403377	C	T	24403377	3	4	22	1	0	0	0	0	1	0	0	0	9851	855	30	2	105	2	MRS2	6	24403377	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	228356	24403377	146711690	3453	8561										
MRS2	57380	hgsc.bcm.edu	37	chr6	24412530	24412530	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagagcaatggctgttccgGgaactcccttcacagttgtc	10	11	1	1	rs61733147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24412530G>T	ENST00000378386.3	+	5	588	c.495G>T	c.(493-495)cgG>cgT	p.R165R	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Silent_p.R165R|MRS2_ENST00000535061.1_Silent_p.R115R|MRS2_ENST00000443868.2_Silent_p.R168R|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	165						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGCTGTTCCGGGAACTCCCTT	0.383													G|||	355	0.0708866	0.0734	0.0259	5008	,	,		15993	0.122		0.0089	False		,,,				2504	0.1104				p.R165R		Atlas-SNP	.											.	MRS2	31	.	0			c.G495T						PASS	.	G		265,4141	149.2+/-183.4	10,245,1948	114	109	111		495	2.7	1	6	dbSNP_129	111	72,8528	42.6+/-100.3	0,72,4228	no	coding-synonymous	MRS2	NM_020662.2		10,317,6176	TT,TG,GG		0.8372,6.0145,2.5911		165/444	24412530	337,12669	2203	4300	6503	SO:0001819	synonymous_variant	57380	exon5			GTTCCGGGAACTC	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.495G>T	6.37:g.24412530G>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	211	211	1	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	37	CCDS4552.1																																																																																			G|0.964;T|0.036	0.036	strong		0.383	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			T	24412530	G	T	24412530	2	4	22	1	0	0	0	0	0	0	0	1	9851	1219	43	4		4	MRS2	6	24412530	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9153	24412530	146702537	3454	8562										
MRS2	57380	hgsc.bcm.edu	37	chr6	24418749	24418749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggaaccttctctctttcGctctttggactaatgggagt	10	9	3	0	rs141564147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24418749G>A	ENST00000378386.3	+	9	1143	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	MRS2_ENST00000543597.1_Silent_p.S59S|MRS2_ENST00000443868.2_Silent_p.S353S|MRS2_ENST00000378353.1_Silent_p.S350S|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Silent_p.S300S|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	350						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TCTCTCTTTCGCTCTTTGGAC	0.443													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		15837	0.0		0.0	False		,,,				2504	0.0				p.S350S		Atlas-SNP	.											.	MRS2	31	.	0			c.G1050A						PASS	.	G		50,4356	50.9+/-86.3	1,48,2154	171	167	168		1050	-10.8	0	6	dbSNP_134	168	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MRS2	NM_020662.2		1,51,6451	AA,AG,GG		0.0349,1.1348,0.4075		350/444	24418749	53,12953	2203	4300	6503	SO:0001819	synonymous_variant	57380	exon9			TCTTTCGCTCTTT	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1050G>A	6.37:g.24418749G>A		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	261	118	0.452107	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	37	CCDS4552.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	G	9.599	1.128145	0.20959	0.011348	3.49E-4	ENSG00000124532	ENST00000446191	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43393	-0.9394	4	.	.	.	-16.4762	0.5483	0.00658	0.2381:0.1624:0.2797:0.3198	.	.	.	.	H	169	.	.	R	+	2	0	MRS2	24526728	0.008000	0.16893	0.026000	0.17262	0.987000	0.75469	-1.057000	0.03486	-2.703000	0.00397	-0.163000	0.13421	CGC	G|0.996;A|0.004	0.004	strong		0.443	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			A	24418749	G	A	24418749	2	1	22	1	0	0	0	0	0	0	0	1	9851	1074	38	1		1	MRS2	6	24418749	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6219	24418749	146696318	3455	8563										
KIAA0319	9856	hgsc.bcm.edu	37	chr6	24551664	24551664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgcagactgtcttaccaTatttgggcctcagttccatt	7	11	3	1	rs807534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24551664T>C	ENST00000378214.3	-	20	3562	c.3038A>G	c.(3037-3039)tAt>tGt	p.Y1013C	KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y968C|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y1013C|KIAA0319_ENST00000535378.1_Missense_Mutation_p.Y1004C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1013			Y -> C (in dbSNP:rs807534).		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTCTTACCATATTTGGGCCT	0.423													T|||	485	0.096845	0.0832	0.0922	5008	,	,		20835	0.0764		0.1272	False		,,,				2504	0.1084				p.Y1013C		Atlas-SNP	.											.	KIAA0319	117	.	0			c.A3038G						PASS	.	T	CYS/TYR,CYS/TYR,CYS/TYR,,CYS/TYR	415,3991	202.1+/-225.0	20,375,1808	351	275	301		3011,3038,2903,,3038	0.2	1	6	dbSNP_86	301	1149,7451	235.7+/-268.2	75,999,3226	yes	missense,missense,missense,intron,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	194,194,194,,194	95,1374,5034	CC,CT,TT		13.3605,9.419,12.0252	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	1004/1064,1013/1073,968/1028,,1013/1073	24551664	1564,11442	2203	4300	6503	SO:0001583	missense	9856	exon20			TTACCATATTTGG	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3038A>G	6.37:g.24551664T>C	ENSP00000367459:p.Tyr1013Cys	Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	314	314	1	NM_001168375	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	220	0.10073260073260074	43	0.08739837398373984	40	0.11049723756906077	38	0.06643356643356643	99	0.13060686015831136	T	14.94	2.686305	0.47991	0.09419	0.133605	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.56	0.197	0.15164	.	0.307026	0.26855	N	0.022150	T	0.08403	0.0209	L	0.48362	1.52	0.28285	P	0.9238074000000001	D;D	0.89917	1.0;0.999	D;P	0.65874	0.939;0.87	T	0.09640	-1.0665	9	0.38643	T	0.18	-14.3463	10.4006	0.44227	0.3848:0.0:0.0:0.6152	rs807534;rs52812688;rs56987247;rs807534	1004;1013	Q5VV43-2;Q5VV43	.;K0319_HUMAN	C	1004;968;1013;1013	ENSP00000442403:Y1004C;ENSP00000401086:Y968C;ENSP00000367459:Y1013C;ENSP00000437656:Y1013C	ENSP00000367459:Y1013C	Y	-	2	0	KIAA0319	24659643	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	1.674000	0.37544	0.216000	0.20781	0.454000	0.30748	TAT	T|0.886;C|0.114	0.114	strong		0.423	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		C	24551664	T	C	24551664	3	2	22	1	0	0	0	0	1	0	0	0	8168	1406	49	2	188	2	KIAA0319	6	24551664	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	132915	24551664	146563403	3456	8564										
KIAA0319	9856	hgsc.bcm.edu	37	chr6	24551729	24551729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatggtgtactttgttttTttcctgattttagtcctttt	8	5	0	1	rs807535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24551729T>C	ENST00000378214.3	-	20	3497	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	KIAA0319_ENST00000430948.2_Silent_p.K946K|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Silent_p.K991K|KIAA0319_ENST00000535378.1_Silent_p.K982K	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	991					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTTTGTTTTTTTCCTGATTT	0.403													T|||	488	0.0974441	0.0832	0.0951	5008	,	,		21561	0.0764		0.1272	False		,,,				2504	0.1094				p.K991K		Atlas-SNP	.											.	KIAA0319	117	.	0			c.A2973G						PASS	.	T	,,,,	415,3991	198.7+/-222.5	20,375,1808	319	261	281		2946,2973,2838,,2973	-9.1	0.1	6	dbSNP_86	281	1152,7448	233.0+/-266.5	75,1002,3223	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	,,,,	95,1377,5031	CC,CT,TT		13.3953,9.419,12.0483	,,,,	982/1064,991/1073,946/1028,,991/1073	24551729	1567,11439	2203	4300	6503	SO:0001819	synonymous_variant	9856	exon20			TGTTTTTTTCCTG	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2973A>G	6.37:g.24551729T>C		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	245	245	1	NM_001168375	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	CCDS34348.1																																																																																			A|0.006;C|0.112	0.112	strong		0.403	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		C	24551729	T	C	24551729	2	2	22	1	0	0	0	0	0	0	0	1	8168	1838	64	2		2	KIAA0319	6	24551729	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65	24551729	146563338	3457	8565										
KIAA0319	9856	hgsc.bcm.edu	37	chr6	24596433	24596433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctcccggtagtcatctgAgtactcagacatctcctcta	7	14	5	2	rs73727343	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24596433A>C	ENST00000378214.3	-	3	993	c.469T>G	c.(469-471)Tca>Gca	p.S157A	KIAA0319_ENST00000430948.2_Missense_Mutation_p.S112A|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S157A|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S157A|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S148A	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	157				S -> A (in Ref. 1; BAA20777 and 5; AAI52461). {ECO:0000305}.	negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TAGTCATCTGAGTACTCAGAC	0.597													A|||	134	0.0267572	0.0961	0.0072	5008	,	,		17776	0.0		0.002	False		,,,				2504	0.0				p.S157A		Atlas-SNP	.											.	KIAA0319	117	.	0			c.T469G						PASS	.	A	ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER	322,4084	170.5+/-200.9	9,304,1890	75	79	78		442,469,334,469,469	-3.2	0.1	6	dbSNP_130	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	99,99,99,99,99	9,307,6187	CC,CA,AA		0.0349,7.3082,2.4988	benign,benign,benign,benign,benign	148/1064,157/1073,112/1028,157/1012,157/1073	24596433	325,12681	2203	4300	6503	SO:0001583	missense	9856	exon3			CATCTGAGTACTC	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.469T>G	6.37:g.24596433A>C	ENSP00000367459:p.Ser157Ala	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	65	0.02976190476190476	58	0.11788617886178862	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	4.600	0.111504	0.08831	0.073082	3.49E-4	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06371	3.31;3.32;3.32;3.31;3.31	4.43	-3.24	0.05094	.	1.418230	0.04637	N	0.404692	T	0.01156	0.0038	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.001	T	0.48375	-0.9041	10	0.29301	T	0.29	-0.0017	0.6264	0.00786	0.3156:0.2275:0.2714:0.1855	.	157;148;157	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	A	157;148;112;157;157	ENSP00000439700:S157A;ENSP00000442403:S148A;ENSP00000401086:S112A;ENSP00000367459:S157A;ENSP00000437656:S157A	ENSP00000367459:S157A	S	-	1	0	KIAA0319	24704412	0.000000	0.05858	0.057000	0.19452	0.884000	0.51177	-1.251000	0.02882	-0.187000	0.10516	0.421000	0.28195	TCA	A|0.970;C|0.030	0.030	strong		0.597	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		C	24596433	A	C	24596433	3	2	22	1	0	0	0	0	1	0	0	0	8168	304	11	5	2825	5	KIAA0319	6	24596433	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44704	24596433	146518634	3458	8566										
TDP2	51567	hgsc.bcm.edu	37	chr6	24653273	24653273	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgactctggagcctcttGcattttctttaaaaccattt	6	10	3	1	rs2294689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24653273G>C	ENST00000378198.4	-	6	915	c.745C>G	c.(745-747)Caa>Gaa	p.Q249E	TDP2_ENST00000478285.1_5'Flank|TDP2_ENST00000341060.3_Missense_Mutation_p.Q191E|TDP2_ENST00000545995.1_Missense_Mutation_p.Q279E			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	249			Q -> E (in dbSNP:rs2294689). {ECO:0000269|Ref.5}.		cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGAGCCTCTTGCATTTTCTTT	0.423								Direct reversal of damage					G|||	1222	0.24401	0.2579	0.3026	5008	,	,		17788	0.4623		0.0378	False		,,,				2504	0.1708				p.Q249E		Atlas-SNP	.											.	TDP2	29	.	0			c.C745G						PASS	.	G	GLU/GLN	897,3509	348.5+/-309.9	93,711,1399	203	212	209		745	5.3	1	6	dbSNP_100	209	381,8219	123.9+/-182.7	9,363,3928	yes	missense	TDP2	NM_016614.2	29	102,1074,5327	CC,CG,GG		4.4302,20.3586,9.8262	possibly-damaging	249/363	24653273	1278,11728	2203	4300	6503	SO:0001583	missense	51567	exon6			CCTCTTGCATTTT	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.745C>G	6.37:g.24653273G>C	ENSP00000367440:p.Gln249Glu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_016614	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	483	0.22115384615384615	112	0.22764227642276422	100	0.27624309392265195	243	0.42482517482517484	28	0.036939313984168866	G	9.939	1.216996	0.22373	0.203586	0.044302	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.80304	-1.36;-1.36;-1.36	5.33	5.33	0.75918	Endonuclease/exonuclease/phosphatase (2);	0.225081	0.46758	D	0.000269	T	0.57695	0.2071	L	0.44542	1.39	0.29930	P	0.8219920000000001	B;B	0.23806	0.074;0.091	B;B	0.29663	0.064;0.105	T	0.50625	-0.8806	9	0.06099	T	0.92	-11.0751	12.9775	0.58546	0.0:0.0:0.718:0.282	rs2294689;rs3181241;rs17243381;rs60616684;rs2294689	279;249	O95551-2;O95551	.;TYDP2_HUMAN	E	249;279;171;191	ENSP00000367440:Q249E;ENSP00000437637:Q279E;ENSP00000345345:Q191E	ENSP00000345345:Q191E	Q	-	1	0	TDP2	24761252	1.000000	0.71417	0.969000	0.41365	0.828000	0.46876	3.045000	0.49838	2.654000	0.90174	0.655000	0.94253	CAA	G|0.830;C|0.170	0.170	strong		0.423	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			C	24653273	G	C	24653273	3	2	22	1	0	0	0	0	1	0	0	0	15726	1328	46	4	351	4	TDP2	6	24653273	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56840	24653273	146461794	3459	8567										
GMNN	51053	hgsc.bcm.edu	37	chr6	24781719	24781719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatagctgtccgcaggcttGtccaaaaggaaacatcggaa	10	9	0	0	rs2307307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24781719G>C	ENST00000230056.3	+	4	476	c.144G>C	c.(142-144)ttG>ttC	p.L48F	GMNN_ENST00000356509.3_Missense_Mutation_p.L48F	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	48			L -> F (in dbSNP:rs2307307).		mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CCGCAGGCTTGTCCAAAAGGA	0.343													G|||	433	0.0864617	0.2511	0.0331	5008	,	,		11233	0.0347		0.003	False		,,,				2504	0.0409				p.L48F		Atlas-SNP	.											.	GMNN	19	.	0			c.G144C						PASS	.	G	PHE/LEU	969,3437	348.7+/-310.1	119,731,1353	49	54	53		144	-3.5	0	6	dbSNP_100	53	60,8540	36.9+/-92.0	0,60,4240	yes	missense	GMNN	NM_015895.3	22	119,791,5593	CC,CG,GG		0.6977,21.9927,7.9117	probably-damaging	48/210	24781719	1029,11977	2203	4300	6503	SO:0001583	missense	51053	exon4			AGGCTTGTCCAAA	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.144G>C	6.37:g.24781719G>C	ENSP00000230056:p.Leu48Phe	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	104	44	0.423077	NM_001251991	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	CCDS4560.1	147	0.0673076923076923	112	0.22764227642276422	13	0.03591160220994475	20	0.03496503496503497	2	0.002638522427440633	G	9.323	1.058570	0.19987	0.219927	0.006977	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.49	-3.46	0.04767	.	0.887861	0.10144	N	0.710528	T	0.07098	0.0180	M	0.68317	2.08	0.80722	P	0.0	P	0.50369	0.934	P	0.49887	0.625	T	0.17198	-1.0377	9	0.10111	T	0.7	-33.3703	3.7543	0.08579	0.3203:0.1172:0.4467:0.1159	rs2307307;rs52823028;rs59360716;rs2307307	48	O75496	GEMI_HUMAN	F	48	ENSP00000348902:L48F;ENSP00000230056:L48F;ENSP00000367293:L48F;ENSP00000419584:L48F;ENSP00000367298:L48F	ENSP00000230056:L48F	L	+	3	2	GMNN	24889698	0.185000	0.23213	0.000000	0.03702	0.011000	0.07611	0.264000	0.18497	-0.400000	0.07656	-1.110000	0.02074	TTG	G|0.932;C|0.068	0.068	strong		0.343	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		C	24781719	G	C	24781719	3	2	22	1	0	0	0	0	1	0	0	0	6493	1368	48	4	154	4	GMNN	6	24781719	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128446	24781719	146333348	3460	8568										
FAM65B	9750	hgsc.bcm.edu	37	chr6	24828449	24828449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaatactggaaaacagtgaCgacttccgaggacaggctgg	13	8	0	1	rs61741706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24828449C>T	ENST00000259698.4	-	19	2819	c.2644G>A	c.(2644-2646)Gtc>Atc	p.V882I	FAM65B_ENST00000538035.1_Missense_Mutation_p.V861I	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	882					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAACAGTGACGACTTCCGAG	0.537													C|||	114	0.0227636	0.0779	0.0072	5008	,	,		16614	0.0		0.006	False		,,,				2504	0.0				p.V882I		Atlas-SNP	.											.	FAM65B	134	.	0			c.G2644A						PASS	.	C	ILE/VAL	98,1286		2,94,596	66	59	61		2644	-2.8	0.9	6	dbSNP_129	61	7,3175		0,7,1584	yes	missense	FAM65B	NM_014722.2	29	2,101,2180	TT,TC,CC		0.22,7.0809,2.2996	benign	882/1069	24828449	105,4461	692	1591	2283	SO:0001583	missense	9750	exon19			CAGTGACGACTTC	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2644G>A	6.37:g.24828449C>T	ENSP00000259698:p.Val882Ile	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	50	12	0.24	NM_014722	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	43	0.019688644688644688	33	0.06707317073170732	4	0.011049723756906077	0	0.0	6	0.0079155672823219	C	6.371	0.436609	0.12104	0.070809	0.0022	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.77620	-1.11;-1.11	5.92	-2.85	0.05734	.	0.352381	0.31566	N	0.007431	T	0.26195	0.0639	N	0.02539	-0.55	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.08055	0.003;0.003	T	0.09509	-1.0671	10	0.11485	T	0.65	-11.55	11.9871	0.53153	0.0:0.4035:0.0:0.5965	.	861;882	F5GX51;Q9Y4F9	.;FA65B_HUMAN	I	882;861	ENSP00000259698:V882I;ENSP00000441138:V861I	ENSP00000259698:V882I	V	-	1	0	FAM65B	24936428	0.979000	0.34478	0.945000	0.38365	0.944000	0.59088	0.090000	0.15025	-0.503000	0.06586	-0.136000	0.14681	GTC	C|0.984;T|0.016	0.016	strong		0.537	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			T	24828449	C	T	24828449	3	4	22	1	0	0	0	0	1	0	0	0	5600	536	19	1	582	1	FAM65B	6	24828449	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46730	24828449	146286618	3461	8569										
FAM65B	9750	hgsc.bcm.edu	37	chr6	24848331	24848331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctcctctgaagggctgcTgccttgttcccagcgcctga	10	14	2	2	rs35698586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24848331T>C	ENST00000259698.4	-	12	1174	c.999A>G	c.(997-999)gcA>gcG	p.A333A	FAM65B_ENST00000538035.1_Silent_p.A362A|FAM65B_ENST00000378023.4_Silent_p.A333A|FAM65B_ENST00000510784.2_Silent_p.A367A|FAM65B_ENST00000540914.1_Silent_p.A333A	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	333					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAAGGGCTGCTGCCTTGTTCC	0.517													C|||	110	0.0219649	0.0779	0.0043	5008	,	,		19139	0.0		0.004	False		,,,				2504	0.0				p.A333A		Atlas-SNP	.											.	FAM65B	134	.	0			c.A999G						PASS	.	C	,	255,3729		6,243,1743	85	85	85		999,999	-6.8	0	6	dbSNP_126	85	8,8334		0,8,4163	no	coding-synonymous,coding-synonymous	FAM65B	NM_014722.2,NM_015864.2	,	6,251,5906	CC,CT,TT		0.0959,6.4006,2.1337	,	333/1069,333/592	24848331	263,12063	1992	4171	6163	SO:0001819	synonymous_variant	9750	exon12			GGCTGCTGCCTTG	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.999A>G	6.37:g.24848331T>C		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	142	66	0.464789	NM_015864	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																			T|0.985;C|0.015	0.015	strong		0.517	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			C	24848331	T	C	24848331	2	2	22	1	0	0	0	0	0	0	0	1	5600	1567	55	3		3	FAM65B	6	24848331	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19882	24848331	146266736	3462	8570										
FAM65B	9750	hgsc.bcm.edu	37	chr6	24848345	24848345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgctgccttgttcccagCgcctgaggatgcggtcatgt	14	12	1	1	rs35254980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:24848345C>A	ENST00000259698.4	-	12	1160	c.985G>T	c.(985-987)Gct>Tct	p.A329S	FAM65B_ENST00000538035.1_Missense_Mutation_p.A358S|FAM65B_ENST00000378023.4_Missense_Mutation_p.A329S|FAM65B_ENST00000540914.1_Missense_Mutation_p.A329S|FAM65B_ENST00000510784.2_Missense_Mutation_p.A363S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	329					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGTTCCCAGCGCCTGAGGAT	0.522													C|||	109	0.0217652	0.0772	0.0043	5008	,	,		19094	0.0		0.004	False		,,,				2504	0.0				p.A329S		Atlas-SNP	.											.	FAM65B	134	.	0			c.G985T						PASS	.	C	SER/ALA,SER/ALA	255,3715		6,243,1736	78	77	77		985,985	-3.5	0	6	dbSNP_126	77	8,8346		0,8,4169	yes	missense,missense	FAM65B	NM_014722.2,NM_015864.2	99,99	6,251,5905	AA,AC,CC		0.0958,6.4232,2.134	benign,benign	329/1069,329/592	24848345	263,12061	1985	4177	6162	SO:0001583	missense	9750	exon12			TCCCAGCGCCTGA	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.985G>T	6.37:g.24848345C>A	ENSP00000259698:p.Ala329Ser	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	128	62	0.484375	NM_015864	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	39	0.017857142857142856	32	0.06504065040650407	3	0.008287292817679558	0	0.0	4	0.005277044854881266	C	7.015	0.557535	0.13436	0.064232	9.58E-4	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	5.48	-3.49	0.04724	.	0.396788	0.30704	N	0.009044	T	0.00300	0.0009	N	0.01576	-0.805	0.09310	N	1	B;B;B;B	0.20780	0.048;0.048;0.027;0.027	B;B;B;B	0.24269	0.034;0.052;0.021;0.052	T	0.32719	-0.9896	10	0.19147	T	0.46	-1.0033	9.8918	0.41294	0.0:0.1236:0.128:0.7485	rs35254980	363;358;329;329	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	S	329;358;329;329;363	ENSP00000259698:A329S;ENSP00000441138:A358S;ENSP00000367262:A329S;ENSP00000438425:A329S;ENSP00000441305:A363S	ENSP00000259698:A329S	A	-	1	0	FAM65B	24956324	0.630000	0.27155	0.001000	0.08648	0.822000	0.46500	0.993000	0.29680	-0.569000	0.06030	0.563000	0.77884	GCT	C|0.985;A|0.015	0.015	strong		0.522	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			A	24848345	C	A	24848345	3	1	22	1	0	0	0	0	1	0	0	0	5600	768	27	4	2279	4	FAM65B	6	24848345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	24848345	146266722	3463	8571										
LRRC16A	55604	hgsc.bcm.edu	37	chr6	25606442	25606442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctcctgcagtcccccaAacccagtctggcagcacggc	9	20	1	0	rs201300946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:25606442A>G	ENST00000329474.6	+	35	4156	c.3788A>G	c.(3787-3789)aAa>aGa	p.K1263R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1263					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTCCCCCAAACCCAGTCTG	0.582													A|||	5	0.000998403	0.0038	0.0	5008	,	,		16648	0.0		0.0	False		,,,				2504	0.0				p.K1263R		Atlas-SNP	.											.	LRRC16A	168	.	0			c.A3788G						PASS	.	A	ARG/LYS,ARG/LYS	10,3848		0,10,1919	42	50	47		3770,3788	5.8	1	6		47	0,8290		0,0,4145	yes	missense,missense	LRRC16A	NM_001173977.1,NM_017640.5	26,26	0,10,6064	GG,GA,AA		0.0,0.2592,0.0823	probably-damaging,probably-damaging	1257/1366,1263/1372	25606442	10,12138	1929	4145	6074	SO:0001583	missense	55604	exon35			CCCCCAAACCCAG	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3788A>G	6.37:g.25606442A>G	ENSP00000331983:p.Lys1263Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846082	0.91277	0.002592	0.0	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.18657	2.2	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.993;0.993;0.994	T	0.05257	-1.0896	10	0.38643	T	0.18	-24.4349	16.2375	0.82384	1.0:0.0:0.0:0.0	.	1263;1257;1218	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	R	1263;1218	ENSP00000331983:K1263R	ENSP00000331983:K1263R	K	+	2	0	LRRC16A	25714421	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	6.167000	0.71902	2.222000	0.72286	0.533000	0.62120	AAA	.	.	weak		0.582	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		G	25606442	A	G	25606442	3	3	22	1	0	0	0	0	1	0	0	0	8971	14	1	2	3926	2	LRRC16A	6	25606442	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	758097	25606442	145508625	3464	8572										
SLC17A1	6568	hgsc.bcm.edu	37	chr6	25813150	25813150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaaacgtaaaactaccaGtggaaatagcccagactgga	9	8	0	2	rs1165196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:25813150G>A	ENST00000244527.4	-	8	921	c.806C>T	c.(805-807)aCt>aTt	p.T269I	SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.T269I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	269			T -> I (in dbSNP:rs1165196). {ECO:0000269|PubMed:7826357, ECO:0000269|PubMed:8288239}.		ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAACTACCAGTGGAAATAGC	0.368													A|||	3601	0.71905	0.9213	0.7003	5008	,	,		22291	0.8165		0.5646	False		,,,				2504	0.5174				p.T269I		Atlas-SNP	.											.	SLC17A1	71	.	0			c.C806T	GRCh37	CM086146	SLC17A1	M	rs1165196	PASS	.	A	ILE/THR	3795,611	265.9+/-266.9	1637,521,45	77	77	77	http://www.ncbi.nlm.nih.gov/pubmed?term	806	3.7	0	6	dbSNP_87	77	4698,3902	545.1+/-384.7	1271,2156,873	yes	missense	SLC17A1	NM_005074.3	89	2908,2677,918	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	45.3721,13.8675,34.6994	benign	269/468	25813150	8493,4513	2203	4300	6503	SO:0001583	missense	6568	exon8			CTACCAGTGGAAA		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.806C>T	6.37:g.25813150G>A	ENSP00000244527:p.Thr269Ile	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	112	111	0.991071	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	1617	0.7403846153846154	454	0.9227642276422764	250	0.6906077348066298	480	0.8391608391608392	433	0.5712401055408971	A	4.386	0.071267	0.08436	0.861325	0.546279	ENSG00000124568	ENST00000244527;ENST00000476801	T;T	0.55588	0.51;0.51	3.67	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.163280	0.02119	N	0.055446	T	0.08358	0.0208	N	0.01140	-0.99	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.21793	-1.0235	9	0.15952	T	0.53	.	5.9435	0.19205	0.8822:0.0:0.1178:0.0	rs1165196;rs1747529;rs17342465;rs60458507;rs1165196	269	Q14916	NPT1_HUMAN	I	269	ENSP00000244527:T269I;ENSP00000420614:T269I	ENSP00000244527:T269I	T	-	2	0	SLC17A1	25921129	0.003000	0.15002	0.001000	0.08648	0.022000	0.10575	1.880000	0.39628	0.777000	0.33496	-0.254000	0.11334	ACT	G|0.298;T|0.002	.	strong		0.368	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			A	25813150	G	A	25813150	3	1	22	1	0	0	0	0	1	0	0	0	14416	1029	36	2	617	2	SLC17A1	6	25813150	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	206708	25813150	145301917	3465	8573										
SLC17A3	10786	hgsc.bcm.edu	37	chr6	25849620	25849620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgactaagaagaaatccActgacagtgggtacaatgac	9	9	0	5	rs942379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:25849620A>G	ENST00000360657.3	-	10	1395	c.1110T>C	c.(1108-1110)agT>agC	p.S370S	SLC17A3_ENST00000397060.4_Silent_p.S448S|SLC17A3_ENST00000361703.6_Silent_p.S370S			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	370					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GAAGAAATCCACTGACAGTGG	0.418													G|||	3521	0.703075	0.9198	0.6902	5008	,	,		15514	0.8105		0.5388	False		,,,				2504	0.4775				p.S448S		Atlas-SNP	.											.	SLC17A3	95	.	0			c.T1344C						PASS	.	G	,	3764,642	275.2+/-272.4	1612,540,51	74	71	72		1344,1110	-0.8	0.1	6	dbSNP_86	72	4553,4047	554.6+/-386.5	1190,2173,937	no	coding-synonymous,coding-synonymous	SLC17A3	NM_001098486.1,NM_006632.3	,	2802,2713,988	GG,GA,AA		47.0581,14.571,36.0526	,	448/499,370/421	25849620	8317,4689	2203	4300	6503	SO:0001819	synonymous_variant	10786	exon11			AAATCCACTGACA	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1110T>C	6.37:g.25849620A>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_001098486	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Silent	SNP	ENST00000360657.3	37	CCDS4566.2	1584	0.7252747252747253	454	0.9227642276422764	247	0.6823204419889503	476	0.8321678321678322	407	0.5369393139841688	G	4.510	0.094579	0.08632	0.85429	0.529419	ENSG00000124564	ENST00000481949	.	.	.	4.55	-0.836	0.10770	.	.	.	.	.	T	0.12732	0.0309	.	.	.	0.25770	P	0.9848456	.	.	.	.	.	.	T	0.23762	-1.0179	3	.	.	.	.	4.0301	0.09705	0.5185:0.1813:0.3002:0.0	rs942379;rs1747553;rs3736878;rs17270953;rs17851585;rs57863386;rs942379	.	.	.	A	49	.	.	V	-	2	0	SLC17A3	25957599	0.000000	0.05858	0.128000	0.21923	0.014000	0.08584	-1.080000	0.03407	-0.075000	0.12798	-0.266000	0.10368	GTG	A|0.326;G|0.674	0.674	strong		0.418	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			G	25849620	A	G	25849620	2	3	22	1	0	0	0	0	0	0	0	1	14418	156	6	2		2	SLC17A3	6	25849620	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36470	25849620	145265447	3466	8574										
HIST1H3B	8358	hgsc.bcm.edu	37	chr6	26031962	26031962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagcatggatggcgcaaagGtttgtgtcctcaaagagccc	12	9	1	1	rs34966100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26031962G>A	ENST00000244661.2	-	1	326	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	109					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGCGCAAAGGTTTGTGTCCT	0.527													G|||	176	0.0351438	0.1203	0.013	5008	,	,		18951	0.0		0.004	False		,,,				2504	0.0041				p.N109N		Atlas-SNP	.											.	HIST1H3B	59	.	0			c.C327T						PASS	.	G		396,4010	198.4+/-222.2	12,372,1819	78	79	79		327	4.2	1	6	dbSNP_126	79	55,8545	34.3+/-88.2	0,55,4245	no	coding-synonymous	HIST1H3B	NM_003537.3		12,427,6064	AA,AG,GG		0.6395,8.9877,3.4676		109/137	26031962	451,12555	2203	4300	6503	SO:0001819	synonymous_variant	8358	exon1			GCAAAGGTTTGTG	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.327C>T	6.37:g.26031962G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	141	59	0.41844	NM_003537	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	CCDS4573.1																																																																																			G|0.966;A|0.034	0.034	strong		0.527	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		A	26031962	G	A	26031962	2	1	22	1	0	0	0	0	0	0	0	1	7156	1252	44	2		2	HIST1H3B	6	26031962	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	182342	26031962	145083105	3467	8575										
HIST1H2AB	8335	hgsc.bcm.edu	37	chr6	26033641	26033641	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtactcaagcaccgccgcGagatacaccggcgcgccagc	12	16	1	1	rs2230654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26033641G>A	ENST00000259791.2	-	1	155	c.156C>T	c.(154-156)ctC>ctT	p.L52L	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	52						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCACCGCCGCGAGATACACCG	0.657													G|||	975	0.194688	0.3472	0.1556	5008	,	,		14712	0.0734		0.1352	False		,,,				2504	0.2025				p.L52L		Atlas-SNP	.											.	HIST1H2AB	18	.	0			c.C156T						PASS	.	G		1364,3042		223,918,1062	34	40	38		156	0.7	1	6	dbSNP_98	38	1335,7263		109,1117,3073	no	coding-synonymous	HIST1H2AB	NM_003513.2		332,2035,4135	AA,AG,GG		15.5269,30.9578,20.7552		52/131	26033641	2699,10305	2203	4299	6502	SO:0001819	synonymous_variant	8335	exon1			CGCCGCGAGATAC	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.156C>T	6.37:g.26033641G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	226	125	0.553097	NM_003513	P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	CCDS4574.1																																																																																			G|0.810;A|0.190	0.190	strong		0.657	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		A	26033641	G	A	26033641	2	1	22	1	0	0	0	0	0	0	0	1	7129	1045	37	1		1	HIST1H2AB	6	26033641	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1679	26033641	145081426	3468	8576										
HIST1H4C	8364	hgsc.bcm.edu	37	chr6	26104280	26104280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcattacaaaaccggctatTcgccgtttggctcggcgcgg	13	12	0	0	rs2229768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26104280T>C	ENST00000377803.2	+	1	177	c.105T>C	c.(103-105)atT>atC	p.I35I		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	35					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACCGGCTATTCGCCGTTTGG	0.547													T|||	881	0.175919	0.2587	0.1398	5008	,	,		17436	0.1667		0.1998	False		,,,				2504	0.0746				p.I35I		Atlas-SNP	.											.	HIST1H4C	14	.	0			c.T105C						PASS	.	T		1075,3331		122,831,1250	62	63	63		105	-3	0.6	6	dbSNP_98	63	1877,6723		201,1475,2624	no	coding-synonymous	HIST1H4C	NM_003542.3		323,2306,3874	CC,CT,TT		21.8256,24.3985,22.6972		35/104	26104280	2952,10054	2203	4300	6503	SO:0001819	synonymous_variant	8364	exon1			GGCTATTCGCCGT	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.105T>C	6.37:g.26104280T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_003542	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	37	CCDS4583.1																																																																																			T|0.790;C|0.210	0.210	strong		0.547	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		C	26104280	T	C	26104280	2	2	22	1	0	0	0	0	0	0	0	1	7167	1771	62	2		2	HIST1H4C	6	26104280	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	70639	26104280	145010787	3469	8577										
HIST1H4C	8364	hgsc.bcm.edu	37	chr6	26104382	26104382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagagaacgttattcgagaCgccgtcacctatacggagca	10	10	1	2	rs2229767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26104382C>T	ENST00000377803.2	+	1	279	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	69					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TTATTCGAGACGCCGTCACCT	0.542													c|||	175	0.0349441	0.1248	0.013	5008	,	,		17220	0.0		0.001	False		,,,				2504	0.0				p.D69D		Atlas-SNP	.											.	HIST1H4C	14	.	0			c.C207T						PASS	.	T		437,3969		27,383,1793	74	66	69		207	0.8	1	6	dbSNP_98	69	29,8571		0,29,4271	no	coding-synonymous	HIST1H4C	NM_003542.3		27,412,6064	TT,TC,CC		0.3372,9.9183,3.583		69/104	26104382	466,12540	2203	4300	6503	SO:0001819	synonymous_variant	8364	exon1			TCGAGACGCCGTC	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.207C>T	6.37:g.26104382C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	171	81	0.473684	NM_003542	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	37	CCDS4583.1																																																																																			C|0.963;T|0.037	0.037	strong		0.542	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		T	26104382	C	T	26104382	2	4	22	1	0	0	0	0	0	0	0	1	7167	535	19	1		1	HIST1H4C	6	26104382	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102	26104382	145010685	3470	8578										
HIST1H2BD	3017	hgsc.bcm.edu	37	chr6	26158456	26158456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctccaagaaggcggtgaCtaaggctcagaagaaggacg	16	8	1	4	rs62623440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26158456C>T	ENST00000289316.2	+	1	83	c.59C>T	c.(58-60)aCt>aTt	p.T20I	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.T20I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	20					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AAGGCGGTGACTAAGGCTCAG	0.527													C|||	47	0.00938498	0.0348	0.0014	5008	,	,		19251	0.0		0.0	False		,,,				2504	0.0				p.T20I		Atlas-SNP	.											.	HIST1H2BD	45	.	0			c.C59T						PASS	.	C	ILE/THR,ILE/THR	128,4278		1,126,2076	126	124	124		59,59	4.1	1	6	dbSNP_129	124	1,8599		0,1,4299	yes	missense,missense	HIST1H2BD	NM_021063.3,NM_138720.2	89,89	1,127,6375	TT,TC,CC		0.0116,2.9051,0.9918	probably-damaging,probably-damaging	20/127,20/127	26158456	129,12877	2203	4300	6503	SO:0001583	missense	3017	exon1			CGGTGACTAAGGC	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.59C>T	6.37:g.26158456C>T	ENSP00000289316:p.Thr20Ile	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	145	61	0.42069	NM_021063		Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	.	15.37	2.814326	0.50527	0.029051	1.16E-4	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.23754	1.89;1.89	4.95	4.07	0.47477	Histone-fold (2);	0.000000	0.42821	D	0.000655	T	0.19604	0.0471	M	0.79805	2.47	0.36491	D	0.868429	P	0.39216	0.664	B	0.39935	0.314	T	0.08554	-1.0716	10	0.72032	D	0.01	.	9.0973	0.36647	0.0:0.7713:0.147:0.0817	rs62623440	20	P58876	H2B1D_HUMAN	I	20	ENSP00000367008:T20I;ENSP00000289316:T20I	ENSP00000289316:T20I	T	+	2	0	HIST1H2BD	26266435	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.805000	0.55575	1.392000	0.46585	0.644000	0.83932	ACT	C|0.990;T|0.010	0.010	strong		0.527	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		T	26158456	C	T	26158456	3	4	22	1	0	0	0	0	1	0	0	0	7143	565	20	2	61	2	HIST1H2BD	6	26158456	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54074	26158456	144956611	3471	8579										
HIST1H2BE	8344	hgsc.bcm.edu	37	chr6	26184082	26184082	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctccaagaaggccgtgaCcaaggcgcagaagaaggacg	16	10	0	4	rs61978632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26184082C>G	ENST00000356530.3	+	1	125	c.59C>G	c.(58-60)aCc>aGc	p.T20S		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	20					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						AAGGCCGTGACCAAGGCGCAG	0.557													C|||	202	0.0403355	0.1339	0.0216	5008	,	,		19019	0.0		0.002	False		,,,				2504	0.0082				p.T20S		Atlas-SNP	.											.	HIST1H2BE	10	.	0			c.C59G						PASS	.	C	SER/THR	444,3962		21,402,1780	121	113	116		59	5.1	1	6	dbSNP_129	116	31,8569		0,31,4269	no	missense	HIST1H2BE	NM_003523.2	58	21,433,6049	GG,GC,CC		0.3605,10.0772,3.6522	benign	20/127	26184082	475,12531	2203	4300	6503	SO:0001583	missense	8344	exon1			CCGTGACCAAGGC	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.59C>G	6.37:g.26184082C>G	ENSP00000348924:p.Thr20Ser	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	213	105	0.492958	NM_003523	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	CCDS4588.1	72	0.03296703296703297	64	0.13008130081300814	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	.	17.23	3.336510	0.60963	0.100772	0.003605	ENSG00000197697	ENST00000356530	T	0.22539	1.95	5.08	5.08	0.68730	.	0.000000	0.35040	U	0.003493	T	0.34308	0.0893	.	.	.	0.25861	P	0.9838228	.	.	.	.	.	.	T	0.09100	-1.0690	6	0.59425	D	0.04	.	17.8237	0.88657	0.0:1.0:0.0:0.0	rs61978632	.	.	.	S	20	ENSP00000348924:T20S	ENSP00000348924:T20S	T	+	2	0	HIST1H2BE	26292061	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.752000	0.68728	2.526000	0.85167	0.603000	0.83216	ACC	C|0.965;G|0.035	0.035	strong		0.557	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		G	26184082	C	G	26184082	3	3	22	1	0	0	0	0	1	0	0	0	7144	507	18	4	61	4	HIST1H2BE	6	26184082	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25626	26184082	144930985	3472	8580										
HIST1H2BH	8345	hgsc.bcm.edu	37	chr6	26252148	26252148	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaacaagcgttcgaccatCacctccagggagatccagac	8	14	1	2	rs61746493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26252148C>T	ENST00000356350.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	90					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTTCGACCATCACCTCCAGGG	0.597													C|||	185	0.0369409	0.1309	0.0144	5008	,	,		18322	0.0		0.002	False		,,,				2504	0.0				p.I90I		Atlas-SNP	.											.	HIST1H2BH	36	.	0			c.C270T						PASS	.	C		426,3980		22,382,1799	85	89	88		270	3.7	1	6	dbSNP_129	88	27,8573		0,27,4273	no	coding-synonymous	HIST1H2BH	NM_003524.2		22,409,6072	TT,TC,CC		0.314,9.6686,3.483		90/127	26252148	453,12553	2203	4300	6503	SO:0001819	synonymous_variant	8345	exon1			GACCATCACCTCC	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.270C>T	6.37:g.26252148C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	171	91	0.532164	NM_003524	B2R541|Q4VB74	Silent	SNP	ENST00000356350.2	37	CCDS4601.1																																																																																			C|0.968;T|0.032	0.032	strong		0.597	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		T	26252148	C	T	26252148	2	4	22	1	0	0	0	0	0	0	0	1	7147	816	29	2		2	HIST1H2BH	6	26252148	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68066	26252148	144862919	3473	8581										
BTN3A2	11118	hgsc.bcm.edu	37	chr6	26370605	26370605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaggatggagggatccaTctggagtgcaggtccaccgg	16	8	1	1	rs9379860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26370605T>C	ENST00000356386.2	+	5	677	c.489T>C	c.(487-489)caT>caC	p.H163H	BTN3A2_ENST00000396934.3_Silent_p.H140H|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.H163H|BTN3A2_ENST00000396948.1_Silent_p.H163H|BTN3A2_ENST00000508906.2_Silent_p.H121H|BTN3A2_ENST00000527422.1_Silent_p.H163H	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	163					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAGGGATCCATCTGGAGTGCA	0.522													T|||	1755	0.350439	0.4266	0.3098	5008	,	,		18970	0.2232		0.4135	False		,,,				2504	0.3425				p.H163H		Atlas-SNP	.											.	BTN3A2	44	.	0			c.T489C						PASS	.	T	,,,,	1865,2541	540.1+/-375.4	382,1101,720	115	102	107		489,489,420,363,489	-4.6	0	6	dbSNP_119	107	3406,5194	503.8+/-376.0	658,2090,1552	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	,,,,	1040,3191,2272	CC,CT,TT		39.6047,42.3286,40.5274	,,,,	163/335,163/335,140/312,121/293,163/335	26370605	5271,7735	2203	4300	6503	SO:0001819	synonymous_variant	11118	exon3			GATCCATCTGGAG	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.489T>C	6.37:g.26370605T>C		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	169	84	0.497041	NM_001197246	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	ENST00000356386.2	37	CCDS4605.1																																																																																			T|0.614;C|0.386	0.386	strong		0.522	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			C	26370605	T	C	26370605	2	2	22	1	0	0	0	0	0	0	0	1	1563	1432	50	2		2	BTN3A2	6	26370605	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	118457	26370605	144744462	3474	8582										
BTN3A2	11118	hgsc.bcm.edu	37	chr6	26370660	26370660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaatacagtggagcaacGccaagggagagaacatccca	10	12	0	1	rs12205731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26370660G>A	ENST00000356386.2	+	5	732	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159T|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182T|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182T|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140T|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182T	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	182			A -> T (in dbSNP:rs12205731). {ECO:0000269|PubMed:14702039}.		interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GTGGAGCAACGCCAAGGGAGA	0.552													G|||	315	0.0628994	0.0598	0.0519	5008	,	,		18361	0.0883		0.1024	False		,,,				2504	0.0082				p.A182T		Atlas-SNP	.											.	BTN3A2	44	.	0			c.G544A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	230,4176	136.1+/-172.1	4,222,1977	131	117	122		544,544,475,418,544	-3.4	0	6	dbSNP_120	122	638,7962	164.2+/-216.6	30,578,3692	no	missense,missense,missense,missense,missense	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	58,58,58,58,58	34,800,5669	AA,AG,GG		7.4186,5.2202,6.6738	benign,benign,benign,benign,benign	182/335,182/335,159/312,140/293,182/335	26370660	868,12138	2203	4300	6503	SO:0001583	missense	11118	exon3			AGCAACGCCAAGG	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.544G>A	6.37:g.26370660G>A	ENSP00000348751:p.Ala182Thr	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	218	113	0.518349	NM_001197246	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	CCDS4605.1	195	0.08928571428571429	25	0.0508130081300813	20	0.055248618784530384	68	0.11888111888111888	82	0.10817941952506596	g	2.133	-0.398753	0.04865	0.052202	0.074186	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.75704	-0.96;3.3;3.3;3.3;3.3;3.3;3.3	2.31	-3.42	0.04825	Immunoglobulin-like fold (1);	.	.	.	.	T	0.32406	0.0828	L	0.31294	0.92	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.02596	-1.1136	8	0.23302	T	0.38	.	5.2155	0.15340	0.0:0.3589:0.278:0.3631	rs12205731	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	T	140;182;182;182;159;182;182;140	ENSP00000435952:A140T;ENSP00000432138:A182T;ENSP00000348751:A182T;ENSP00000380140:A159T;ENSP00000366937:A182T;ENSP00000380152:A182T;ENSP00000442687:A140T	ENSP00000348751:A182T	A	+	1	0	BTN3A2	26478639	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.675000	0.01947	-0.821000	0.04312	0.405000	0.27470	GCC	G|0.927;A|0.073	0.073	strong		0.552	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			A	26370660	G	A	26370660	3	1	22	1	0	0	0	0	1	0	0	0	1563	1087	38	1	554	1	BTN3A2	6	26370660	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55	26370660	144744407	3475	8583										
BTN3A2	11118	hgsc.bcm.edu	37	chr6	26370833	26370833	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagcatttccatcgcaggTcagtacctgcttggcctcag	10	14	2	0	rs58367598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26370833T>G	ENST00000356386.2	+	5	903		c.e5+2		BTN3A2_ENST00000396934.3_Splice_Site|BTN3A2_ENST00000532994.1_Splice_Site|BTN3A2_ENST00000377708.2_Splice_Site|BTN3A2_ENST00000396948.1_Splice_Site|BTN3A2_ENST00000508906.2_Splice_Site|BTN3A2_ENST00000527422.1_Splice_Site	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2						interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CCATCGCAGGTCAGTACCTGC	0.532													T|||	214	0.0427316	0.0802	0.0202	5008	,	,		18081	0.005		0.0447	False		,,,				2504	0.045				.		Atlas-SNP	.											.	BTN3A2	44	.	0			c.589+2T>G						PASS	.	T	,,,,	298,4108	161.4+/-193.6	6,286,1911	77	75	76		,,,,	2.2	0.5	6	dbSNP_129	76	388,8212	126.7+/-185.1	9,370,3921	no	splice-5,splice-5,splice-5,splice-5,splice-5	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	,,,,	15,656,5832	GG,GT,TT		4.5116,6.7635,5.2745	,,,,	,,,,	26370833	686,12320	2203	4300	6503	SO:0001630	splice_region_variant	11118	exon4			CGCAGGTCAGTAC	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.715+2T>G	6.37:g.26370833T>G		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	135	81	0.6	NM_001197249	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Splice_Site	SNP	ENST00000356386.2	37	CCDS4605.1	81	0.03708791208791209	40	0.08130081300813008	7	0.019337016574585635	0	0.0	34	0.044854881266490766	T	10.98	1.505574	0.26949	0.067635	0.045116	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	.	.	.	2.16	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3209	0.21217	0.0:0.0:0.0:1.0	rs58367598	.	.	.	.	-1	.	.	.	+	.	.	BTN3A2	26478812	0.985000	0.35326	0.496000	0.27539	0.305000	0.27757	1.644000	0.37228	1.235000	0.43724	0.333000	0.21579	.	T|0.951;G|0.049	0.049	strong		0.532	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2		Intron	G	26370833	T	G	26370833	5	3	22	1	0	0	0	0	0	0	1	0	1563	1681	58	5	727	5	BTN3A2	6	26370833	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173	26370833	144744234	3476	8584										
BTN3A2	11118	hgsc.bcm.edu	37	chr6	26374571	26374571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaggtggagaggagtcttcGtccgataccaataagtcagc	13	8	2	1	rs115820857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26374571G>A	ENST00000356386.2	+	9	1169	c.981G>A	c.(979-981)tcG>tcA	p.S327S	BTN3A2_ENST00000396934.3_Silent_p.S304S|BTN3A2_ENST00000377708.2_Silent_p.S327S|BTN3A2_ENST00000396948.1_Silent_p.S327S|BTN3A2_ENST00000508906.2_Silent_p.S285S|BTN3A2_ENST00000527422.1_Silent_p.S327S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	327				S -> L (in Ref. 2; AAC02655). {ECO:0000305}.	interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGGAGTCTTCGTCCGATACCA	0.473													G|||	75	0.014976	0.0552	0.0029	5008	,	,		16013	0.0		0.0	False		,,,				2504	0.0				p.S327S		Atlas-SNP	.											.	BTN3A2	44	.	0			c.G981A						PASS	.	G	,,,,	168,4238	110.8+/-149.0	1,166,2036	196	161	173		981,981,912,855,981	-1.2	0	6	dbSNP_132	173	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	,,,,	1,178,6324	AA,AG,GG		0.1395,3.813,1.384	,,,,	327/335,327/335,304/312,285/293,327/335	26374571	180,12826	2203	4300	6503	SO:0001819	synonymous_variant	11118	exon7			GTCTTCGTCCGAT	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.981G>A	6.37:g.26374571G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	216	96	0.444444	NM_001197246	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	ENST00000356386.2	37	CCDS4605.1																																																																																			G|0.988;A|0.012	0.012	strong		0.473	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			A	26374571	G	A	26374571	2	1	22	1	0	0	0	0	0	0	0	1	1563	1132	40	1		1	BTN3A2	6	26374571	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3738	26374571	144740496	3477	8585										
BTN2A1	11120	hgsc.bcm.edu	37	chr6	26468319	26468319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgacagtcagccttgtgtcCtaggccgggagagcttcgct	13	12	1	1	rs3734541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:26468319C>T	ENST00000312541.5	+	8	1374	c.1126C>T	c.(1126-1128)Cta>Tta	p.L376L	BTN2A1_ENST00000541522.1_Silent_p.L315L|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	376	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GCCTTGTGTCCTAGGCCGGGA	0.567													C|||	714	0.142572	0.4312	0.0821	5008	,	,		22312	0.0427		0.0159	False		,,,				2504	0.0286				p.L376L		Atlas-SNP	.											.	BTN2A1	118	.	0			c.C1126T						PASS	.	C	,,,	1741,2665	521.9+/-370.6	356,1029,818	160	154	156		943,,1126,	2	0.9	6	dbSNP_107	156	120,8480	61.7+/-123.6	0,120,4180	no	coding-synonymous,intron,coding-synonymous,utr-3	BTN2A1	NM_001197233.1,NM_001197234.1,NM_007049.3,NM_078476.2	,,,	356,1149,4998	TT,TC,CC		1.3953,39.5143,14.3088	,,,	315/467,,376/528,	26468319	1861,11145	2203	4300	6503	SO:0001819	synonymous_variant	11120	exon8			TGTGTCCTAGGCC	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1126C>T	6.37:g.26468319C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	127	59	0.464567	NM_007049	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	ENST00000312541.5	37	CCDS4613.1																																																																																			C|0.870;T|0.130	0.130	strong		0.567	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		T	26468319	C	T	26468319	2	4	22	1	0	0	0	0	0	0	0	1	1560	680	24	2		2	BTN2A1	6	26468319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93748	26468319	144646748	3478	8586										
HIST1H2AL	8332	hgsc.bcm.edu	37	chr6	27833342	27833342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagctggcgggcaacgcCgcccgcgacaacaagaagac	14	14	0	2	rs11966705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:27833342C>T	ENST00000357320.2	+	1	309	c.210C>T	c.(208-210)gcC>gcT	p.A70A		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	70						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGGGCAACGCCGCCCGCGACA	0.657													C|||	123	0.0245607	0.0703	0.0144	5008	,	,		15159	0.005		0.0119	False		,,,				2504	0.0031				p.A70A		Atlas-SNP	.											.	HIST1H2AL	14	.	0			c.C210T						PASS	.	C		329,4077		11,307,1885	78	83	81		210	1.8	1	6	dbSNP_120	81	48,8552		0,48,4252	no	coding-synonymous	HIST1H2AL	NM_003511.2		11,355,6137	TT,TC,CC		0.5581,7.4671,2.8987		70/131	27833342	377,12629	2203	4300	6503	SO:0001819	synonymous_variant	8332	exon1			CAACGCCGCCCGC	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.210C>T	6.37:g.27833342C>T		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	248	122	0.491935	NM_003511	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	CCDS4634.1																																																																																			C|0.975;T|0.025	0.025	strong		0.657	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		T	27833342	C	T	27833342	2	4	22	1	0	0	0	0	0	0	0	1	7138	639	23	1		1	HIST1H2AL	6	27833342	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1365023	27833342	143281725	3479	8587										
HIST1H3I	8354	hgsc.bcm.edu	37	chr6	27839746	27839746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggcataatagtgacgcgTttggcgtgaatggcgcacag	14	7	0	2	rs200956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:27839746T>C	ENST00000328488.2	-	1	353	c.348A>G	c.(346-348)aaA>aaG	p.K116K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	116					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TAGTGACGCGTTTGGCGTGAA	0.572													C|||	1273	0.254193	0.4758	0.2305	5008	,	,		18092	0.1389		0.1511	False		,,,				2504	0.1963				p.K116K		Atlas-SNP	.											.	HIST1H3I	28	.	0			c.A348G						PASS	.	C		1856,2550	634.1+/-396.1	405,1046,752	125	136	133		348	2.3	1	6	dbSNP_79	133	1396,7204	754.3+/-407.5	114,1168,3018	no	coding-synonymous	HIST1H3I	NM_003533.2		519,2214,3770	CC,CT,TT		16.2326,42.1244,25.0038		116/137	27839746	3252,9754	2203	4300	6503	SO:0001819	synonymous_variant	8354	exon1			GACGCGTTTGGCG	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.348A>G	6.37:g.27839746T>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	160	85	0.53125	NM_003533	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	CCDS4636.1																																																																																			A|0.004;C|0.245	0.245	strong		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		C	27839746	T	C	27839746	2	2	22	1	0	0	0	0	0	0	0	1	7163	1722	60	2		2	HIST1H3I	6	27839746	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6404	27839746	143275321	3480	8588										
OR2B2	81697	hgsc.bcm.edu	37	chr6	27879093	27879093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaaataggacaacttgcGgagaagttagtaaggtaagt	11	4	0	1	rs73392698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:27879093G>A	ENST00000303324.2	-	1	1081	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GACAACTTGCGGAGAAGTTAG	0.318													G|||	86	0.0171725	0.0582	0.0101	5008	,	,		18973	0.0		0.002	False		,,,				2504	0.0				p.S335S		Atlas-SNP	.											.	OR2B2	54	.	0			c.C1005T						PASS	.	G		226,4180	133.3+/-169.7	3,220,1980	81	84	83		1005	-2.2	0	6	dbSNP_130	83	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	OR2B2	NM_033057.2		3,225,6275	AA,AG,GG		0.0581,5.1294,1.7761		335/358	27879093	231,12775	2203	4300	6503	SO:0001819	synonymous_variant	81697	exon1			ACTTGCGGAGAAG	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.1005C>T	6.37:g.27879093G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	55	31	0.563636	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	CCDS4641.1																																																																																			G|0.984;A|0.016	0.016	strong		0.318	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			A	27879093	G	A	27879093	2	1	22	1	0	0	0	0	0	0	0	1	10989	1103	39	1		1	OR2B2	6	27879093	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39347	27879093	143235974	3481	8589										
ZNF192	7745	hgsc.bcm.edu	37	chr6	28120898	28120898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaatatctactggaatccaGccacatggagagacagctgc	10	10	1	1	rs17774663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28120898G>A	ENST00000330236.6	+	6	1024	c.840G>A	c.(838-840)caG>caA	p.Q280Q	ZKSCAN8_ENST00000457389.2_Silent_p.Q280Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	280	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										CTGGAATCCAGCCACATGGAG	0.468													a|||	1100	0.219649	0.2958	0.2608	5008	,	,		20259	0.1875		0.1968	False		,,,				2504	0.1442				p.Q280Q		Atlas-SNP	.											ZNF192,NS,carcinoma,+1,1	.	.	1	0			c.G840A						PASS	.	T		1223,3183	707.1+/-407.5	174,875,1154	83	84	83		840	-11.2	0.1	6	dbSNP_123	83	1897,6703	728.3+/-406.7	216,1465,2619	no	coding-synonymous	ZNF192	NM_006298.2		390,2340,3773	AA,AG,GG		22.0581,27.7576,23.9889		280/579	28120898	3120,9886	2203	4300	6503	SO:0001819	synonymous_variant	7745	exon6			AATCCAGCCACAT		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.840G>A	6.37:g.28120898G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	183	99	0.540984	NM_006298	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	CCDS4645.1																																																																																			G|0.765;A|0.235	0.235	strong		0.468	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			A	28120898	G	A	28120898	2	1	22	1	0	0	0	0	0	0	0	1	17753	962	34	2		2	ZNF192	6	28120898	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	241805	28120898	142994169	3482	8590										
ZKSCAN4	387032	hgsc.bcm.edu	37	chr6	28219661	28219661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacctccgccgtcaaggcgGaggcttcctccttctccacc	8	19	3	0	rs9986596	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28219661G>A	ENST00000377294.2	-	1	341	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	33			S -> F (in dbSNP:rs9986596).		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)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGTCAAGGCGGAGGCTTCCTC	0.667													G|||	698	0.139377	0.2179	0.1225	5008	,	,		14031	0.128		0.1143	False		,,,				2504	0.0828				p.S33F		Atlas-SNP	.											.	ZKSCAN4	42	.	0			c.C98T						PASS	.	G	PHE/SER	953,3425		113,727,1349	44	49	47		98	-0.4	0	6	dbSNP_119	47	1180,7360		100,980,3190	yes	missense	ZKSCAN4	NM_019110.3	155	213,1707,4539	AA,AG,GG		13.8173,21.7679,16.5118	benign	33/546	28219661	2133,10785	2189	4270	6459	SO:0001583	missense	387032	exon1			AAGGCGGAGGCTT	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.98C>T	6.37:g.28219661G>A	ENSP00000366509:p.Ser33Phe	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_019110	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	310	0.14194139194139194	97	0.19715447154471544	44	0.12154696132596685	79	0.1381118881118881	90	0.11873350923482849	G	10.35	1.325696	0.24080	0.217679	0.138173	ENSG00000187626	ENST00000377294	T	0.05786	3.39	4.61	-0.381	0.12485	.	.	.	.	.	T	0.00875	0.0029	N	0.19112	0.55	0.58432	P	4.000000000004E-6	B	0.12630	0.006	B	0.10450	0.005	T	0.47799	-0.9089	8	0.10111	T	0.7	.	3.8039	0.08768	0.0885:0.1234:0.4709:0.3172	rs9986596	33	Q969J2	ZKSC4_HUMAN	F	33	ENSP00000366509:S33F	ENSP00000366509:S33F	S	-	2	0	ZKSCAN4	28327640	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	0.730000	0.26043	0.092000	0.17331	0.563000	0.77884	TCC	G|0.842;A|0.158	0.158	strong		0.667	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		A	28219661	G	A	28219661	3	1	22	1	0	0	0	0	1	0	0	0	17686	1174	41	2	1559	2	ZKSCAN4	6	28219661	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98763	28219661	142895406	3483	8591										
ZKSCAN4	387032	hgsc.bcm.edu	37	chr6	28219695	28219695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaccttcacggtcaggaGccccgtctggtcttctgcag	10	16	5	0	rs62638680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28219695G>A	ENST00000377294.2	-	1	307	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	22					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)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACGGTCAGGAGCCCCGTCTGG	0.637													G|||	179	0.0357428	0.1082	0.0187	5008	,	,		15084	0.006		0.0139	False		,,,				2504	0.0031				p.L22F		Atlas-SNP	.											.	ZKSCAN4	42	.	0			c.C64T						PASS	.	G	PHE/LEU	433,3917		24,385,1766	63	69	67		64	-0.6	0.1	6	dbSNP_129	67	51,8447		0,51,4198	yes	missense	ZKSCAN4	NM_019110.3	22	24,436,5964	AA,AG,GG		0.6001,9.954,3.7671	benign	22/546	28219695	484,12364	2175	4249	6424	SO:0001583	missense	387032	exon1			TCAGGAGCCCCGT	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.64C>T	6.37:g.28219695G>A	ENSP00000366509:p.Leu22Phe	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	102	101	0.990196	NM_019110	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	77	0.035256410256410256	52	0.10569105691056911	9	0.024861878453038673	5	0.008741258741258742	11	0.014511873350923483	G	16.83	3.231677	0.58777	0.09954	0.006001	ENSG00000187626	ENST00000377294	T	0.08896	3.04	4.21	-0.602	0.11634	.	.	.	.	.	T	0.02047	0.0064	L	0.27053	0.805	0.09310	N	0.999995	P	0.46706	0.883	P	0.44732	0.459	T	0.39901	-0.9591	9	0.46703	T	0.11	.	3.0342	0.06116	0.0972:0.1668:0.458:0.278	.	22	Q969J2	ZKSC4_HUMAN	F	22	ENSP00000366509:L22F	ENSP00000366509:L22F	L	-	1	0	ZKSCAN4	28327674	0.000000	0.05858	0.050000	0.19076	0.678000	0.39670	-0.612000	0.05616	0.044000	0.15775	0.563000	0.77884	CTC	G|0.968;A|0.032	0.032	strong		0.637	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		A	28219695	G	A	28219695	3	1	22	1	0	0	0	0	1	0	0	0	17686	971	34	2	1593	2	ZKSCAN4	6	28219695	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34	28219695	142895372	3484	8592										
PGBD1	84547	hgsc.bcm.edu	37	chr6	28269663	28269663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggtattttgatttccgaAtagaagaaaacaatgagata	10	3	0	4	rs1997660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28269663A>G	ENST00000405948.2	+	7	2452	c.2032A>G	c.(2032-2034)Ata>Gta	p.I678V	PGBD1_ENST00000259883.3_Missense_Mutation_p.I678V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	678			I -> V (in dbSNP:rs1997660).			membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGATTTCCGAATAGAAGAAAA	0.403													G|||	2963	0.591653	0.9501	0.4597	5008	,	,		21228	0.6012		0.3091	False		,,,				2504	0.4816				p.I678V		Atlas-SNP	.											.	PGBD1	106	.	0			c.A2032G						PASS	.	G	VAL/ILE,VAL/ILE	3672,734	301.8+/-287.1	1540,592,71	127	130	129		2032,2032	3.6	0.7	6	dbSNP_92	129	2750,5850	680.9+/-403.7	452,1846,2002	yes	missense,missense	PGBD1	NM_001184743.1,NM_032507.3	29,29	1992,2438,2073	GG,GA,AA		31.9767,16.6591,49.3772	benign,benign	678/810,678/810	28269663	6422,6584	2203	4300	6503	SO:0001583	missense	84547	exon7			TTCCGAATAGAAG	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2032A>G	6.37:g.28269663A>G	ENSP00000385213:p.Ile678Val	Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	1199	0.548992673992674	461	0.9369918699186992	169	0.46685082872928174	346	0.6048951048951049	223	0.2941952506596306	G	0.005	-2.168088	0.00315	0.833409	0.319767	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16743	2.32;2.32	4.48	3.61	0.41365	.	0.600559	0.12776	N	0.440090	T	0.01124	0.0037	N	0.01109	-1.01	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48502	-0.9030	9	0.02654	T	1	-9.75	7.387	0.26888	0.1999:0.0:0.8001:0.0	rs1997660;rs41538181;rs52791434;rs60280230;rs1997660	678	Q96JS3	PGBD1_HUMAN	V	678	ENSP00000385213:I678V;ENSP00000259883:I678V	ENSP00000259883:I678V	I	+	1	0	PGBD1	28377642	0.082000	0.21442	0.675000	0.29917	0.339000	0.28857	1.091000	0.30915	0.640000	0.30582	-0.186000	0.12905	ATA	A|0.464;G|0.536	0.536	strong		0.403	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			G	28269663	A	G	28269663	3	3	22	1	0	0	0	0	1	0	0	0	11780	101	4	2	2054	2	PGBD1	6	28269663	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49968	28269663	142845404	3485	8593										
ZNF323	64288	hgsc.bcm.edu	37	chr6	28297313	28297313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttctcggggaccaggagTctcttggtaacaaaactgcc	11	11	2	0	rs853678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28297313T>A	ENST00000414429.1	-	6	1051	c.148A>T	c.(148-150)Act>Tct	p.T50S	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.T50S|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.T50S|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.T50S			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.		T -> S (in dbSNP:rs853678).		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)										GGACCAGGAGTCTCTTGGTAA	0.522													T|||	901	0.179912	0.3585	0.1369	5008	,	,		16858	0.129		0.1193	False		,,,				2504	0.0838				p.T50S		Atlas-SNP	.											.	.	.	.	0			c.A148T						PASS	.	T	SER/THR,SER/THR,SER/THR,SER/THR	1478,2928	473.3+/-356.6	247,984,972	111	123	119		148,148,148,148	-1	0.4	6	dbSNP_86	119	1247,7353	249.2+/-276.5	92,1063,3145	yes	missense,missense,missense,missense	ZNF323	NM_001135215.1,NM_001135216.1,NM_030899.4,NM_145909.2	58,58,58,58	339,2047,4117	AA,AT,TT		14.5,33.5452,20.9519	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	50/407,50/407,50/407,50/407	28297313	2725,10281	2203	4300	6503	SO:0001583	missense	64288	exon2			CAGGAGTCTCTTG		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.148A>T	6.37:g.28297313T>A	ENSP00000390076:p.Thr50Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	128	125	0.976562	NM_030899	Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	377	0.17261904761904762	162	0.32926829268292684	50	0.13812154696132597	80	0.13986013986013987	85	0.11213720316622691	T	11.25	1.582386	0.28180	0.335452	0.145	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	T;T;T;T;T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71;3.71;3.71;3.71;3.71	4.56	-1.04	0.10068	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.00754	0.0025	N	0.20445	0.575	0.80722	P	0.0	B	0.20550	0.046	B	0.18263	0.021	T	0.48822	-0.9001	8	0.22109	T	0.4	.	0.5838	0.00716	0.261:0.1681:0.1338:0.437	rs853678;rs61109611;rs853678	50	Q96LW9	ZN323_HUMAN	S	50	ENSP00000380050:T50S;ENSP00000413705:T50S;ENSP00000390076:T50S;ENSP00000345339:T50S;ENSP00000389479:T50S;ENSP00000412519:T50S;ENSP00000416108:T50S;ENSP00000406376:T50S;ENSP00000411033:T50S;ENSP00000416225:T50S	ENSP00000345339:T50S	T	-	1	0	ZNF323	28405292	0.041000	0.20044	0.415000	0.26534	0.996000	0.88848	0.881000	0.28173	0.191000	0.20236	0.460000	0.39030	ACT	T|0.794;N|0.000	.	strong		0.522	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		A	28297313	T	A	28297313	3	1	22	1	0	0	0	0	1	0	0	0	17840	1667	58	5	1084	5	ZNF323	6	28297313	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27650	28297313	142817754	3486	8594										
ZKSCAN3	80317	hgsc.bcm.edu	37	chr6	28331573	28331573	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaaaagcaggagaaccaTggcagcctggtctccctggg	14	10	1	2	rs213227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28331573T>A	ENST00000377255.3	+	6	1035	c.738T>A	c.(736-738)caT>caA	p.H246Q	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.H98Q|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.H246Q	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	246	KRAB.		H -> Q (in dbSNP:rs213227).		autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGGAGAACCATGGCAGCCTGG	0.463													T|||	244	0.048722	0.1278	0.0346	5008	,	,		18669	0.0119		0.0189	False		,,,				2504	0.0204				p.H246Q		Atlas-SNP	.											.	ZKSCAN3	50	.	0			c.T738A						PASS	.	T	GLN/HIS,GLN/HIS,GLN/HIS	459,3947		25,409,1769	81	74	76		738,294,738	0.5	0	6	dbSNP_79	76	135,8465		1,133,4166	yes	missense,missense,missense	ZKSCAN3	NM_001242894.1,NM_001242895.1,NM_024493.3	24,24,24	26,542,5935	AA,AT,TT		1.5698,10.4176,4.5671	benign,benign,benign	246/539,98/391,246/539	28331573	594,12412	2203	4300	6503	SO:0001583	missense	80317	exon5			GAACCATGGCAGC	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.738T>A	6.37:g.28331573T>A	ENSP00000366465:p.His246Gln	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_024493	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	90	0.04120879120879121	53	0.10772357723577236	14	0.03867403314917127	11	0.019230769230769232	12	0.0158311345646438	.	12.65	2.001597	0.35320	0.104176	0.015698	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.01725	4.67;4.67;4.67	2.98	0.46	0.16684	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	L	0.29908	0.895	0.80722	P	0.0	P	0.35821	0.523	B	0.33392	0.163	T	0.47983	-0.9074	8	0.25751	T	0.34	.	3.8184	0.08825	0.0:0.2424:0.4061:0.3515	rs213227;rs61181430;rs213227	246	Q9BRR0	ZKSC3_HUMAN	Q	246;98;246	ENSP00000252211:H246Q;ENSP00000341883:H98Q;ENSP00000366465:H246Q	ENSP00000252211:H246Q	H	+	3	2	ZKSCAN3	28439552	0.000000	0.05858	0.002000	0.10522	0.920000	0.55202	-0.612000	0.05616	0.086000	0.17137	0.460000	0.39030	CAT	T|0.958;A|0.042	0.042	strong		0.463	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		A	28331573	T	A	28331573	3	1	22	1	0	0	0	0	1	0	0	0	17685	1461	51	5	752	5	ZKSCAN3	6	28331573	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34260	28331573	142783494	3487	8595										
ZSCAN12	9753	hgsc.bcm.edu	37	chr6	28359170	28359170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcgcatttgtagggtctAtctccagtatggatcctctg	9	10	4	0	rs2859348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:28359170A>G	ENST00000361028.1	-	4	1042	c.897T>C	c.(895-897)gaT>gaC	p.D299D	ZSCAN12_ENST00000396827.3_Silent_p.D299D			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	299					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TGTAGGGTCTATCTCCAGTAT	0.423													a|||	3208	0.640575	0.9697	0.4942	5008	,	,		20015	0.5952		0.4583	False		,,,				2504	0.5337				p.D299D		Atlas-SNP	.											.	ZSCAN12	35	.	0			c.T897C						PASS	.	A		1203,181		526,151,15	131	118	122		897	-0.2	1	6	dbSNP_100	122	1421,1761		315,791,485	no	coding-synonymous	ZSCAN12	NM_001163391.1		841,942,500	GG,GA,AA		44.6574,13.078,42.5318		299/612	28359170	2624,1942	692	1591	2283	SO:0001819	synonymous_variant	9753	exon4			GGGTCTATCTCCA	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.897T>C	6.37:g.28359170A>G		Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	192	192	1	NM_001163391	O43724	Silent	SNP	ENST00000361028.1	37																																																																																				A|0.407;G|0.593	0.593	strong		0.423	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		G	28359170	A	G	28359170	2	3	22	1	0	0	0	0	0	0	0	1	18225	446	16	2		2	ZSCAN12	6	28359170	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27597	28359170	142755897	3488	8596										
OR2W1	26692	hgsc.bcm.edu	37	chr6	29012116	29012116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagacttggagtgatgacGgtgtaaaagagggtgaggaa	17	2	0	5	rs7341218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29012116G>A	ENST00000377175.1	-	1	901	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAGTGATGACGGTGTAAAAGA	0.433													G|||	1444	0.288339	0.354	0.2839	5008	,	,		18806	0.3929		0.1889	False		,,,				2504	0.1973				p.T279T		Atlas-SNP	.											.	OR2W1	36	.	0			c.C837T						PASS	.	G	,	961,2061		143,675,693	108	84	93		,837	-1.5	1	6	dbSNP_116	93	907,4511		78,751,1880	no	utr-5,coding-synonymous	OR2W1,LOC100129636	NM_001195202.1,NM_030903.3	,	221,1426,2573	AA,AG,GG		16.7405,31.8001,22.1327	,	,279/321	29012116	1868,6572	1511	2709	4220	SO:0001819	synonymous_variant	26692	exon1			GATGACGGTGTAA	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.837C>T	6.37:g.29012116G>A		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	216	91	0.421296	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	CCDS4656.1																																																																																			G|0.748;A|0.252	0.252	strong		0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012116	G	A	29012116	2	1	22	1	0	0	0	0	0	0	0	1	11032	1103	39	1		1	OR2W1	6	29012116	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	652946	29012116	142102951	3489	8597										
OR2J3	442186	hgsc.bcm.edu	37	chr6	29080386	29080386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccactgggcttcagaaagTgtttggaacatgtggagctc	12	8	1	1	rs79293918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29080386T>C	ENST00000377169.1	+	1	719	c.719T>C	c.(718-720)gTg>gCg	p.V240A		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTCAGAAAGTGTTTGGAACA	0.448													T|||	116	0.0231629	0.0651	0.0101	5008	,	,		22544	0.0079		0.0119	False		,,,				2504	0.0031				p.V240A		Atlas-SNP	.											.	OR2J3	53	.	0			c.T719C						PASS	.	T	ALA/VAL	185,2355		4,177,1089	118	123	121		719	1.6	0.9	6	dbSNP_131	121	26,5120		0,26,2547	yes	missense	OR2J3	NM_001005216.2	64	4,203,3636	CC,CT,TT		0.5052,7.2835,2.7453	possibly-damaging	240/312	29080386	211,7475	1270	2573	3843	SO:0001583	missense	442186	exon1			AGAAAGTGTTTGG		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.719T>C	6.37:g.29080386T>C	ENSP00000366374:p.Val240Ala	Somatic	386	0	0		WXS	Illumina HiSeq	Phase_I	370	177	0.478378	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	54	0.024725274725274724	32	0.06504065040650407	6	0.016574585635359115	6	0.01048951048951049	10	0.013192612137203167	T	0.005	-2.139654	0.00335	0.072835	0.005052	ENSG00000204701	ENST00000377169	T	0.00009	9.47	2.78	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.00123	-2.06	0.40080	D	0.976121	B	0.09022	0.002	B	0.13407	0.009	T	0.00849	-1.1541	9	0.02654	T	1	.	3.5019	0.07676	0.0:0.4818:0.0:0.5182	.	240	O76001	OR2J3_HUMAN	A	240	ENSP00000366374:V240A	ENSP00000366374:V240A	V	+	2	0	OR2J3	29188365	0.981000	0.34729	0.937000	0.37676	0.020000	0.10135	1.790000	0.38734	1.268000	0.44264	0.358000	0.22013	GTG	T|0.981;C|0.019	0.019	strong		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			C	29080386	T	C	29080386	3	2	22	1	0	0	0	0	1	0	0	0	11004	1696	59	2	721	2	OR2J3	6	29080386	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68270	29080386	142034681	3490	8598										
OR5V1	81696	hgsc.bcm.edu	37	chr6	29323276	29323276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaggcttttcgtcttcCctctgaggactggatcctca	10	11	3	2	rs61742983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29323276C>T	ENST00000377154.1	-	4	996	c.697G>A	c.(697-699)Gga>Aga	p.G233R	OR5V1_ENST00000543825.1_Missense_Mutation_p.G233R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTCGTCTTCCCTCTGAGGAC	0.468													C|||	277	0.0553115	0.1641	0.0375	5008	,	,		21777	0.0119		0.0189	False		,,,				2504	0.0031				p.G233R	Ovarian(32;43 883 21137 32120 42650)	Atlas-SNP	.											.	OR5V1	63	.	0			c.G697A						PASS	.	C	ARG/GLY	704,3702	291.5+/-281.6	55,594,1554	91	81	85		697	3.2	0.2	6	dbSNP_129	85	123,8477	63.1+/-125.2	0,123,4177	yes	missense	OR5V1	NM_030876.5	125	55,717,5731	TT,TC,CC		1.4302,15.9782,6.3586	probably-damaging	233/322	29323276	827,12179	2203	4300	6503	SO:0001583	missense	81696	exon1			GTCTTCCCTCTGA		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.697G>A	6.37:g.29323276C>T	ENSP00000366359:p.Gly233Arg	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_030876	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	132	0.06043956043956044	95	0.19308943089430894	15	0.04143646408839779	10	0.017482517482517484	12	0.0158311345646438	C	10.45	1.353760	0.24512	0.159782	0.014302	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00295	8.25;8.25	5.01	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.89030	3	0.80722	P	0.0	P	0.34864	0.473	B	0.38712	0.28	T	0.05451	-1.0884	8	0.87932	D	0	-27.5218	9.027	0.36236	0.0:0.7655:0.0:0.2345	.	233	Q9UGF6	OR5V1_HUMAN	R	233	ENSP00000366359:G233R;ENSP00000443309:G233R	ENSP00000366356:G233R	G	-	1	0	OR5V1	29431255	0.000000	0.05858	0.184000	0.23157	0.400000	0.30750	-0.051000	0.11885	1.333000	0.45449	0.543000	0.68304	GGA	C|0.940;T|0.060	0.060	strong		0.468	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			T	29323276	C	T	29323276	3	4	22	1	0	0	0	0	1	0	0	0	11184	632	22	2	271	2	OR5V1	6	29323276	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	242890	29323276	141791791	3491	8599										
OR5V1	81696	hgsc.bcm.edu	37	chr6	29323655	29323655	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacactctgatcctacaaaGaaaacaaatgcaaaaagttg	6	8	1	3	rs7761746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29323655G>A	ENST00000377154.1	-	4	617	c.318C>T	c.(316-318)ttC>ttT	p.F106F	OR5V1_ENST00000543825.1_Silent_p.F106F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCTACAAAGAAAACAAATG	0.423													G|||	314	0.0626997	0.1846	0.049	5008	,	,		21979	0.0139		0.0189	False		,,,				2504	0.0031				p.F106F	Ovarian(32;43 883 21137 32120 42650)	Atlas-SNP	.											.	OR5V1	63	.	0			c.C318T						PASS	.	G		789,3617	307.5+/-290.0	69,651,1483	65	67	67		318	2.6	1	6	dbSNP_116	67	128,8470	64.2+/-126.4	0,128,4171	no	coding-synonymous	OR5V1	NM_030876.5		69,779,5654	AA,AG,GG		1.4887,17.9074,7.0517		106/322	29323655	917,12087	2203	4299	6502	SO:0001819	synonymous_variant	81696	exon1			TACAAAGAAAACA		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.318C>T	6.37:g.29323655G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	105	56	0.533333	NM_030876	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	CCDS4657.1																																																																																			G|0.926;A|0.074	0.074	strong		0.423	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323655	G	A	29323655	2	1	22	1	0	0	0	0	0	0	0	1	11184	933	33	2		2	OR5V1	6	29323655	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	379	29323655	141791412	3492	8600										
OR5V1	81696	hgsc.bcm.edu	37	chr6	29323905	29323905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgaatagtaaaaactgcAattcatttaggttggagaat	10	3	1	2	rs6930033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29323905A>C	ENST00000377154.1	-	4	367	c.68T>G	c.(67-69)tTg>tGg	p.L23W	OR5V1_ENST00000543825.1_Missense_Mutation_p.L23W			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	23			L -> W (in dbSNP:rs6930033). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAAAACTGCAATTCATTTAG	0.373													A|||	1258	0.251198	0.1672	0.2478	5008	,	,		18385	0.4038		0.17	False		,,,				2504	0.2935				p.L23W	Ovarian(32;43 883 21137 32120 42650)	Atlas-SNP	.											.	OR5V1	63	.	0			c.T68G						PASS	.	A	TRP/LEU	651,3745		51,549,1598	73	76	75		68	4.4	0	6	dbSNP_116	75	1376,7208		125,1126,3041	yes	missense	OR5V1	NM_030876.5	61	176,1675,4639	CC,CA,AA		16.0298,14.8089,15.6163	probably-damaging	23/322	29323905	2027,10953	2198	4292	6490	SO:0001583	missense	81696	exon1			AACTGCAATTCAT		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.68T>G	6.37:g.29323905A>C	ENSP00000366359:p.Leu23Trp	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	104	54	0.519231	NM_030876	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	516	0.23626373626373626	76	0.15447154471544716	93	0.2569060773480663	231	0.40384615384615385	116	0.15303430079155672	A	15.56	2.868850	0.51588	0.148089	0.160298	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.05580	3.42;3.42	4.37	4.37	0.52481	.	0.341744	0.16651	N	0.205208	T	0.11879	0.0289	M	0.76170	2.325	0.80722	P	0.0	D	0.69078	0.997	P	0.57283	0.817	T	0.01951	-1.1241	9	0.56958	D	0.05	-14.7225	13.6641	0.62384	1.0:0.0:0.0:0.0	rs6930033;rs52796609;rs60291414;rs6930033	23	Q9UGF6	OR5V1_HUMAN	W	23	ENSP00000366359:L23W;ENSP00000443309:L23W	ENSP00000366356:L23W	L	-	2	0	OR5V1	29431884	0.000000	0.05858	0.004000	0.12327	0.852000	0.48524	1.174000	0.31932	1.953000	0.56701	0.438000	0.28831	TTG	A|0.805;C|0.195	0.195	strong		0.373	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			C	29323905	A	C	29323905	3	2	22	1	0	0	0	0	1	0	0	0	11184	131	5	5	900	5	OR5V1	6	29323905	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	250	29323905	141791162	3493	8601										
OR11A1	26531	hgsc.bcm.edu	37	chr6	29395180	29395180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctccagcatttttggcAtcactgcggaggtgtagaga	12	10	1	1	rs61978565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29395180A>G	ENST00000377149.1	-	5	711	c.239T>C	c.(238-240)aTg>aCg	p.M80T	OR11A1_ENST00000377148.1_Missense_Mutation_p.M80T|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.M80T			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M80T(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CATTTTTGGCATCACTGCGGA	0.483													A|||	219	0.04373	0.1384	0.0115	5008	,	,		19957	0.0119		0.0129	False		,,,				2504	0.0031				p.M80T		Atlas-SNP	.											OR11A1,NS,carcinoma,0,1	OR11A1	30	1	1	Substitution - Missense(1)	pancreas(1)	c.T239C						PASS	.	A	THR/MET	369,2651		26,317,1167	70	63	66		239	3.8	0.9	6	dbSNP_129	66	34,5384		0,34,2675	yes	missense	OR11A1	NM_013937.2	81	26,351,3842	GG,GA,AA		0.6275,12.2185,4.776	benign	80/316	29395180	403,8035	1510	2709	4219	SO:0001583	missense	26531	exon1			TTTGGCATCACTG		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.239T>C	6.37:g.29395180A>G	ENSP00000366354:p.Met80Thr	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	75	44	0.586667	NM_013937	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	CCDS34363.1	102	0.046703296703296704	74	0.15040650406504066	7	0.019337016574585635	10	0.017482517482517484	11	0.014511873350923483	A	8.985	0.976299	0.18736	0.122185	0.006275	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.02974	4.09;4.09;4.09	3.78	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.297272	0.18047	U	0.153413	T	0.00524	0.0017	N	0.01209	-0.955	0.18873	N	0.999989	B	0.13594	0.008	B	0.14578	0.011	T	0.51028	-0.8757	10	0.56958	D	0.05	-9.2563	11.5265	0.50582	1.0:0.0:0.0:0.0	.	80	Q9GZK7	O11A1_HUMAN	T	80	ENSP00000366353:M80T;ENSP00000366354:M80T;ENSP00000366352:M80T	ENSP00000366352:M80T	M	-	2	0	OR11A1	29503159	0.000000	0.05858	0.925000	0.36789	0.702000	0.40608	0.971000	0.29396	1.569000	0.49696	0.333000	0.21579	ATG	A|0.957;G|0.043	0.043	strong		0.483	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			G	29395180	A	G	29395180	3	3	22	1	0	0	0	0	1	0	0	0	10924	217	8	2	712	2	OR11A1	6	29395180	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71275	29395180	141719887	3494	8602										
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408090	29408090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctggatgtgctctccagAtgttcttcttcctcttcttt	7	12	6	1	rs17177632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408090A>G	ENST00000444197.2	+	1	1008	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	100			M -> V (in dbSNP:rs17177632).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCTCTCCAGATGTTCTTCTT	0.592													A|||	316	0.063099	0.152	0.0562	5008	,	,		20074	0.0456		0.0159	False		,,,				2504	0.0143				p.M100V		Atlas-SNP	.											.	OR10C1	58	.	0			c.A298G						PASS	.	A	VAL/MET	340,2678		23,294,1192	98	97	97		298	1.9	0.8	6	dbSNP_123	97	93,5325		2,89,2618	yes	missense	OR10C1	NM_013941.3	21	25,383,3810	GG,GA,AA		1.7165,11.2657,5.1328	possibly-damaging	100/313	29408090	433,8003	1509	2709	4218	SO:0001583	missense	442194	exon1			CTCCAGATGTTCT		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.298A>G	6.37:g.29408090A>G	ENSP00000419119:p.Met100Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	157	74	0.471338	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	132	0.06043956043956044	85	0.17276422764227642	17	0.04696132596685083	24	0.04195804195804196	6	0.0079155672823219	A	12.71	2.018954	0.35606	0.112657	0.017165	ENSG00000206474	ENST00000444197	T	0.02015	4.5	3.11	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000226	T	0.01976	0.0062	L	0.35288	1.05	0.41272	P	0.013148999999999966	D	0.57257	0.979	D	0.74348	0.983	T	0.47235	-0.9133	9	0.72032	D	0.01	.	3.9297	0.09279	0.6003:0.1852:0.2145:0.0	rs17177632	100	Q96KK4	O10C1_HUMAN	V	100	ENSP00000419119:M100V	ENSP00000419119:M100V	M	+	1	0	OR10C1	29516069	0.000000	0.05858	0.849000	0.33467	0.718000	0.41266	-0.815000	0.04481	0.399000	0.25367	0.165000	0.16767	ATG	A|0.945;G|0.055	0.055	strong		0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			G	29408090	A	G	29408090	3	3	22	1	0	0	0	0	1	0	0	0	10898	333	12	2	300	2	OR10C1	6	29408090	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12910	29408090	141706977	3495	8603										
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408270	29408270	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggggctgggccacaccCctttcatcttctctttgccc					rs2074468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408270C>T	ENST00000444197.2	+	1	1188	c.478C>T	c.(478-480)Cct>Tct	p.P160S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	160			P -> S (in dbSNP:rs2074468).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCCACACCCCTTTCATCTT	0.622													T|||	483	0.0964457	0.233	0.0447	5008	,	,		17755	0.0605		0.0258	False		,,,				2504	0.0583				p.P160S		Atlas-SNP	.											.	OR10C1	58	.	0			c.C478T						PASS	.	T	SER/PRO	696,2326		83,530,898	107	121	116		478	0.9	0.8	6	dbSNP_96	116	184,5234		5,174,2530	no	missense	OR10C1	NM_013941.3	74	88,704,3428	TT,TC,CC		3.3961,23.0311,10.4265	benign	160/313	29408270	880,7560	1511	2709	4220	SO:0001583	missense	442194	exon1			CACACCCCTTTCA		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.478C>T	6.37:g.29408270C>T	ENSP00000419119:p.Pro160Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	114	53	0.464912	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	236	0.10805860805860806	161	0.32723577235772355	22	0.06077348066298342	33	0.057692307692307696	20	0.026385224274406333	T	0.301	-0.974129	0.02215	0.230311	0.033961	ENSG00000206474	ENST00000444197	T	0.35973	1.28	3.53	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.202127	0.24774	N	0.035708	T	0.02649	0.0080	N	0.01267	-0.92	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.40496	-0.9560	9	0.22109	T	0.4	.	2.0816	0.03636	0.5229:0.0928:0.1348:0.2494	rs2074468;rs17184030;rs52836977;rs2074468	160	Q96KK4	O10C1_HUMAN	S	160	ENSP00000419119:P160S	ENSP00000419119:P160S	P	+	1	0	OR10C1	29516249	0.000000	0.05858	0.838000	0.33150	0.111000	0.19643	-5.395000	0.00125	-0.322000	0.08615	-0.451000	0.05528	CCT	C|0.901;T|0.099	0.099	strong		0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29408270	C	T	29408270	3	4	22	1	0	0	0	0	1	0	0	0	10898	623	22	2	480	2	OR10C1	6	29408270	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180	29408270	141706797	3496	8604	160	3								
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408275	29408275	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgggccacacccctttCatcttctctttgcccttctg					rs2074467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408275C>A	ENST00000444197.2	+	1	1193	c.483C>A	c.(481-483)ttC>ttA	p.F161L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	161			F -> L (in dbSNP:rs2074467).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACACCCCTTTCATCTTCTCTT	0.617													C|||	316	0.063099	0.152	0.0562	5008	,	,		17927	0.0456		0.0159	False		,,,				2504	0.0143				p.F161L		Atlas-SNP	.											.	OR10C1	58	.	0			c.C483A						PASS	.	C	LEU/PHE	335,2687		23,289,1199	110	124	119		483	1.5	1	6	dbSNP_96	119	93,5325		2,89,2618	yes	missense	OR10C1	NM_013941.3	22	25,378,3817	AA,AC,CC		1.7165,11.0854,5.0711	benign	161/313	29408275	428,8012	1511	2709	4220	SO:0001583	missense	442194	exon1			CCCTTTCATCTTC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.483C>A	6.37:g.29408275C>A	ENSP00000419119:p.Phe161Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	121	55	0.454545	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	132	0.06043956043956044	85	0.17276422764227642	17	0.04696132596685083	24	0.04195804195804196	6	0.0079155672823219	C	8.999	0.979712	0.18812	0.110854	0.017165	ENSG00000206474	ENST00000444197	T	0.00048	8.82	3.37	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000943	T	0.00039	0.0001	N	0.03917	-0.325	0.80722	P	0.0	P	0.43352	0.804	P	0.52031	0.688	T	0.12319	-1.0552	9	0.05351	T	0.99	.	7.3361	0.26611	0.0:0.6095:0.0:0.3905	rs2074467;rs17184037;rs52816876;rs2074467	161	Q96KK4	O10C1_HUMAN	L	161	ENSP00000419119:F161L	ENSP00000419119:F161L	F	+	3	2	OR10C1	29516254	0.000000	0.05858	0.993000	0.49108	0.378000	0.30076	-2.967000	0.00669	0.621000	0.30232	0.508000	0.49915	TTC	C|0.949;A|0.051	0.051	strong		0.617	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408275	C	A	29408275	3	1	22	1	0	0	0	0	1	0	0	0	10898	825	29	4	485	4	OR10C1	6	29408275	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	29408275	141706792	3497	8605	160	3								
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408278	29408278	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggccacacccctttcatCttctctttgcccttctgcgg					rs17184044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408278C>T	ENST00000444197.2	+	1	1196	c.486C>T	c.(484-486)atC>atT	p.I162I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCCTTTCATCTTCTCTTTGC	0.607													C|||	265	0.0529153	0.121	0.0432	5008	,	,		17863	0.0456		0.0149	False		,,,				2504	0.0143				p.I162I		Atlas-SNP	.											.	OR10C1	58	.	0			c.C486T						PASS	.	C		262,2760		15,232,1264	112	126	121		486	2.5	1	6	dbSNP_123	121	88,5330		1,86,2622	no	coding-synonymous	OR10C1	NM_013941.3		16,318,3886	TT,TC,CC		1.6242,8.6698,4.1469		162/313	29408278	350,8090	1511	2709	4220	SO:0001819	synonymous_variant	442194	exon1			TTTCATCTTCTCT		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.486C>T	6.37:g.29408278C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	116	51	0.439655	NM_013941	Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	CCDS34364.1																																																																																			C|0.956;T|0.044	0.044	strong		0.607	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29408278	C	T	29408278	2	4	22	1	0	0	0	0	0	0	0	1	10898	903	32	2		2	OR10C1	6	29408278	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	29408278	141706789	3498	8606	160	3								
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408476	29408476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaccatcttccggatcccAtctgttgcgggccgccgcaa	10	15	2	0	rs2074465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408476A>G	ENST00000444197.2	+	1	1394	c.684A>G	c.(682-684)ccA>ccG	p.P228P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCGGATCCCATCTGTTGCGG	0.572													A|||	316	0.063099	0.152	0.0562	5008	,	,		18057	0.0456		0.0159	False		,,,				2504	0.0143				p.P228P		Atlas-SNP	.											.	OR10C1	58	.	0			c.A684G						PASS	.	A		340,2682		23,294,1194	216	239	230		684	-3.1	0.3	6	dbSNP_96	230	93,5325		2,89,2618	no	coding-synonymous	OR10C1	NM_013941.3		25,383,3812	GG,GA,AA		1.7165,11.2508,5.1303		228/313	29408476	433,8007	1511	2709	4220	SO:0001819	synonymous_variant	442194	exon1			GATCCCATCTGTT		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.684A>G	6.37:g.29408476A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	195	80	0.410256	NM_013941	Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	CCDS34364.1																																																																																			A|0.939;G|0.061	0.061	strong		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			G	29408476	A	G	29408476	2	3	22	1	0	0	0	0	0	0	0	1	10898	204	8	2		2	OR10C1	6	29408476	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	198	29408476	141706591	3499	8607										
OR10C1	442194	hgsc.bcm.edu	37	chr6	29408555	29408555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcttctatggcaccgcaCtctttatctatattcgccct	4	16	4	0	rs17177674|rs386698374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29408555C>A	ENST00000444197.2	+	1	1473	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	255			L -> I (in dbSNP:rs17177674).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCACCGCACTCTTTATCTA	0.577													A|||	316	0.063099	0.152	0.0562	5008	,	,		18037	0.0456		0.0159	False		,,,				2504	0.0143				p.L255I		Atlas-SNP	.											.	OR10C1	58	.	0			c.C763A						PASS	.	A	ILE/LEU	7,3015		3,1,1507	266	299	287		763	-0.9	0.3	6	dbSNP_123	287	0,5418		0,0,2709	yes	missense	OR10C1	NM_013941.3	5	3,1,4216	AA,AC,CC		0.0,0.2316,0.0829	benign	255/313	29408555	7,8433	1511	2709	4220	SO:0001583	missense	442194	exon1			ACCGCACTCTTTA		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.763C>A	6.37:g.29408555C>A	ENSP00000419119:p.Leu255Ile	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	181	67	0.370166	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	122	0.055860805860805864	78	0.15853658536585366	17	0.04696132596685083	21	0.03671328671328671	6	0.0079155672823219	A	0.077	-1.189974	0.01607	0.002316	0.0	ENSG00000206474	ENST00000444197	T	0.38887	1.11	3.35	-0.944	0.10392	GPCR, rhodopsin-like superfamily (1);	0.187137	0.25854	N	0.027868	T	0.03348	0.0097	N	0.04959	-0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.25467	-1.0131	9	0.02654	T	1	.	1.5125	0.02499	0.4005:0.2621:0.0821:0.2553	rs17177674	255	Q96KK4	O10C1_HUMAN	I	255	ENSP00000419119:L255I	ENSP00000419119:L255I	L	+	1	0	OR10C1	29516534	0.000000	0.05858	0.285000	0.24819	0.893000	0.52053	-1.344000	0.02639	-0.373000	0.07979	-0.318000	0.08688	CTC	C|0.946;A|0.054	0.054	strong		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408555	C	A	29408555	3	1	22	1	0	0	0	0	1	0	0	0	10898	565	20	4	765	4	OR10C1	6	29408555	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79	29408555	141706512	3500	8608										
OR2H1	26716	hgsc.bcm.edu	37	chr6	29429732	29429732	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatgtactttttcctctcTgacctctccttcttggacct					rs61732184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29429732T>C	ENST00000377136.1	+	4	651	c.186T>C	c.(184-186)tcT>tcC	p.S62S	OR2H1_ENST00000442615.1_Silent_p.S62S|OR2H1_ENST00000377132.1_Silent_p.S62S|OR2H1_ENST00000377133.1_Silent_p.S62S|OR2H1_ENST00000396792.2_Silent_p.S62S|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TTTTCCTCTCTGACCTCTCCT	0.527													T|||	174	0.0347444	0.1044	0.013	5008	,	,		20433	0.0119		0.0119	False		,,,				2504	0.0031				p.S62S		Atlas-SNP	.											.	OR2H1	38	.	0			c.T186C						PASS	.	T		301,2721		17,267,1227	138	135	136		186	0	1	6	dbSNP_129	136	33,5385		0,33,2676	no	coding-synonymous	OR2H1	NM_030883.3		17,300,3903	CC,CT,TT		0.6091,9.9603,3.9573		62/317	29429732	334,8106	1511	2709	4220	SO:0001819	synonymous_variant	26716	exon3			CCTCTCTGACCTC	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.186T>C	6.37:g.29429732T>C		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	303	139	0.458746	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Silent	SNP	ENST00000377136.1	37	CCDS4660.1																																																																																			T|0.964;C|0.036	0.036	strong		0.527	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			C	29429732	T	C	29429732	2	2	22	1	0	0	0	0	0	0	0	1	11001	1567	55	3		3	OR2H1	6	29429732	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21177	29429732	141685335	3501	8609	161	2								
OR2H1	26716	hgsc.bcm.edu	37	chr6	29429733	29429733	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgtactttttcctctctGacctctccttcttggacctc					rs61732185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29429733G>A	ENST00000377136.1	+	4	652	c.187G>A	c.(187-189)Gac>Aac	p.D63N	OR2H1_ENST00000442615.1_Missense_Mutation_p.D63N|OR2H1_ENST00000377132.1_Missense_Mutation_p.D63N|OR2H1_ENST00000377133.1_Missense_Mutation_p.D63N|OR2H1_ENST00000396792.2_Missense_Mutation_p.D63N|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	63			D -> N (in allele 6M1-16*02; dbSNP:rs61732185). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TTTCCTCTCTGACCTCTCCTT	0.532													G|||	174	0.0347444	0.1044	0.013	5008	,	,		20350	0.0119		0.0119	False		,,,				2504	0.0031				p.D63N		Atlas-SNP	.											.	OR2H1	38	.	0			c.G187A						PASS	.	G	ASN/ASP	301,2721		17,267,1227	137	134	135		187	0.4	1	6	dbSNP_129	135	33,5385		0,33,2676	yes	missense	OR2H1	NM_030883.3	23	17,300,3903	AA,AG,GG		0.6091,9.9603,3.9573	benign	63/317	29429733	334,8106	1511	2709	4220	SO:0001583	missense	26716	exon3			CTCTCTGACCTCT	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.187G>A	6.37:g.29429733G>A	ENSP00000366340:p.Asp63Asn	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	303	143	0.471947	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	88	0.040293040293040296	60	0.12195121951219512	8	0.022099447513812154	10	0.017482517482517484	10	0.013192612137203167	G	1.564	-0.535865	0.04082	0.099603	0.006091	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00940	5.52;5.52;5.52;5.52;5.52	2.88	0.407	0.16371	GPCR, rhodopsin-like superfamily (1);	0.156786	0.30126	N	0.010354	T	0.00039	0.0001	N	0.00003	-3.425	0.24176	N	0.995605	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.02654	T	1	.	4.2744	0.10802	0.6269:0.1713:0.2018:0.0	rs61732185	63	Q9GZK4	OR2H1_HUMAN	N	63	ENSP00000366340:D63N;ENSP00000366337:D63N;ENSP00000393254:D63N;ENSP00000366336:D63N;ENSP00000380010:D63N	ENSP00000366336:D63N	D	+	1	0	OR2H1	29537712	0.036000	0.19791	0.986000	0.45419	0.919000	0.55068	1.592000	0.36676	0.072000	0.16694	-0.354000	0.07668	GAC	G|0.964;A|0.036	0.036	strong		0.532	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			A	29429733	G	A	29429733	3	1	22	1	0	0	0	0	1	0	0	0	11001	1290	45	2	189	2	OR2H1	6	29429733	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	29429733	141685334	3502	8610	161	2								
OR2H1	26716	hgsc.bcm.edu	37	chr6	29430356	29430356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgcccaagggaggggcaaGttctttggtctcttctatgc	12	9	3	0	rs371076908|rs148433584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29430356G>C	ENST00000377136.1	+	4	1275	c.810G>C	c.(808-810)aaG>aaC	p.K270N	OR2H1_ENST00000442615.1_Missense_Mutation_p.K270N|OR2H1_ENST00000377132.1_Missense_Mutation_p.K270N|OR2H1_ENST00000396792.2_Missense_Mutation_p.K270N|OR2H1_ENST00000377133.1_Missense_Mutation_p.K270N|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						GGAGGGGCAAGTTCTTTGGTC	0.522													G|||	22	0.00439297	0.0159	0.0014	5008	,	,		21364	0.0		0.0	False		,,,				2504	0.0				p.K270N		Atlas-SNP	.											.	OR2H1	38	.	0			c.G810C						PASS	.	G	ASN/LYS	42,2980		0,42,1469	113	115	114		810	2.2	0.9	6	dbSNP_134	114	0,5418		0,0,2709	no	missense	OR2H1	NM_030883.3	94	0,42,4178	CC,CG,GG		0.0,1.3898,0.4976	probably-damaging	270/317	29430356	42,8398	1511	2709	4220	SO:0001583	missense	26716	exon3			GGGCAAGTTCTTT	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.810G>C	6.37:g.29430356G>C	ENSP00000366340:p.Lys270Asn	Somatic	464	0	0		WXS	Illumina HiSeq	Phase_I	453	227	0.501104	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.39	1.335640	0.24253	0.013898	0.0	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00207	8.55;8.55;8.55;8.55;8.55	3.09	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000675	T	0.00241	0.0007	M	0.87617	2.895	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32824	-0.9892	10	0.87932	D	0	.	6.4805	0.22060	0.322:0.0:0.678:0.0	.	270	Q9GZK4	OR2H1_HUMAN	N	270	ENSP00000366340:K270N;ENSP00000366337:K270N;ENSP00000393254:K270N;ENSP00000366336:K270N;ENSP00000380010:K270N	ENSP00000366336:K270N	K	+	3	2	OR2H1	29538335	0.000000	0.05858	0.935000	0.37517	0.315000	0.28087	-1.183000	0.03079	0.870000	0.35726	-0.199000	0.12753	AAG	G|0.995;C|0.005	0.005	strong		0.522	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			C	29430356	G	C	29430356	3	2	22	1	0	0	0	0	1	0	0	0	11001	1020	36	4	812	4	OR2H1	6	29430356	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	623	29430356	141684711	3503	8611										
MAS1L	116511	hgsc.bcm.edu	37	chr6	29455333	29455333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatagatcacgtcagcagcgAccaggtggaggatgtatacc	13	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29455333A>G	ENST00000377127.3	-	1	405	c.347T>C	c.(346-348)gTc>gCc	p.V116A		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	116					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTCAGCAGCGACCAGGTGGAG	0.512																																					p.V116A	NSCLC(153;755 1987 3859 11251 32945)	Atlas-SNP	.											MAS1L,NS,carcinoma,+1,1	MAS1L	66	1	0			c.T347C						scavenged	.						72	67	68					6																	29455333		2203	4300	6503	SO:0001583	missense	116511	exon1			GCAGCGACCAGGT	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.347T>C	6.37:g.29455333A>G	ENSP00000366331:p.Val116Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	83	3	0.0361446	NM_052967	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.514934	0.00975	.	.	ENSG00000204687	ENST00000377127	T	0.21734	1.99	2.6	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	N	0.00080	-2.225	0.18873	N	0.999983	B	0.18013	0.025	B	0.12837	0.008	T	0.47484	-0.9114	9	0.02654	T	1	.	6.5045	0.22188	0.2161:0.0:0.7839:0.0	.	116	P35410	MAS1L_HUMAN	A	116	ENSP00000366331:V116A	ENSP00000366331:V116A	V	-	2	0	MAS1L	29563312	0.426000	0.25506	0.013000	0.15412	0.008000	0.06430	1.700000	0.37815	0.188000	0.20168	-0.569000	0.04157	GTC	.	.	none		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		G	29455333	A	G	29455333	3	3	22	1	0	0	0	0	1	0	0	0	9321	275	10	2	791	2	MAS1L	6	29455333	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24977	29455333	141659734	3504	8612										
UBD	10537	hgsc.bcm.edu	37	chr6	29523670	29523670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggtggtcaccctccaataCaataacatgccaggaagagt	10	10	1	1	rs7757931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29523670C>A	ENST00000377050.4	-	2	708	c.485G>T	c.(484-486)tGt>tTt	p.C162F	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	162	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		C -> F (in dbSNP:rs7757931).		aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CCCTCCAATACAATAACATGC	0.453													c|||	1000	0.199681	0.4758	0.1052	5008	,	,		20877	0.1488		0.0268	False		,,,				2504	0.1237				p.C162F		Atlas-SNP	.											.	UBD	13	.	0			c.G485T						PASS	.	T	PHE/CYS	1319,1703		277,765,469	95	101	99		485	2.5	0	6	dbSNP_116	99	153,5265		2,149,2558	yes	missense	UBD	NM_006398.3	205	279,914,3027	AA,AC,CC		2.8239,43.6466,17.4408	probably-damaging	162/166	29523670	1472,6968	1511	2709	4220	SO:0001583	missense	10537	exon2			CCAATACAATAAC	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.485G>T	6.37:g.29523670C>A	ENSP00000366249:p.Cys162Phe	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	165	84	0.509091	NM_006398	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	393	0.17994505494505494	252	0.5121951219512195	41	0.1132596685082873	84	0.14685314685314685	16	0.021108179419525065	c	12.76	2.033591	0.35893	0.436466	0.028239	ENSG00000213886	ENST00000377050	T	0.10668	2.85	5.32	2.53	0.30540	Ubiquitin supergroup (1);	0.421202	0.17243	U	0.181443	T	0.03220	0.0094	L	0.42245	1.32	0.58432	P	1.0000000000287557E-6	B	0.21606	0.058	B	0.21360	0.034	T	0.28870	-1.0030	9	0.87932	D	0	-2.9037	5.6173	0.17438	0.0:0.6607:0.1616:0.1777	rs7757931;rs17184276	162	O15205	UBD_HUMAN	F	162	ENSP00000366249:C162F	ENSP00000366249:C162F	C	-	2	0	UBD	29631649	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.098000	0.15189	0.219000	0.20840	-0.165000	0.13383	TGT	C|0.831;A|0.169	0.169	strong		0.453	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			A	29523670	C	A	29523670	3	1	22	1	0	0	0	0	1	0	0	0	16840	478	17	4	16	4	UBD	6	29523670	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68337	29523670	141591397	3505	8613										
UBD	10537	hgsc.bcm.edu	37	chr6	29524003	29524003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagatcttggagcccagcAaaagaacctggtcctgcaca	9	11	1	2	rs2076484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29524003A>G	ENST00000377050.4	-	2	375	c.152T>C	c.(151-153)tTg>tCg	p.L51S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	51	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.		L -> S (in dbSNP:rs2076484).		aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GGAGCCCAGCAAAAGAACCTG	0.463													a|||	1000	0.199681	0.4758	0.1052	5008	,	,		8373	0.1488		0.0268	False		,,,				2504	0.1237				p.L51S		Atlas-SNP	.											.	UBD	13	.	0			c.T152C						PASS	.	G	SER/LEU	1326,1696		277,772,462	73	63	66		152	-8.2	0.1	6	dbSNP_96	66	153,5265		2,149,2558	yes	missense	UBD	NM_006398.3	145	279,921,3020	GG,GA,AA		2.8239,43.8782,17.5237	benign	51/166	29524003	1479,6961	1511	2709	4220	SO:0001583	missense	10537	exon2			CCCAGCAAAAGAA	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.152T>C	6.37:g.29524003A>G	ENSP00000366249:p.Leu51Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	144	71	0.493056	NM_006398	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	393	0.17994505494505494	252	0.5121951219512195	41	0.1132596685082873	84	0.14685314685314685	16	0.021108179419525065	a	7.656	0.684031	0.14907	0.438782	0.028239	ENSG00000213886	ENST00000377050	T	0.74737	-0.87	5.05	-8.19	0.01049	Ubiquitin supergroup (1);Ubiquitin (2);	1.770580	0.04933	N	0.457201	T	0.33644	0.0870	L	0.33485	1.01	0.80722	P	0.0	B	0.21606	0.058	B	0.21360	0.034	T	0.27331	-1.0077	9	0.87932	D	0	-6.5613	1.2368	0.01955	0.2717:0.1124:0.1519:0.464	rs2076484;rs17177902;rs52796040;rs2076484	51	O15205	UBD_HUMAN	S	51	ENSP00000366249:L51S	ENSP00000366249:L51S	L	-	2	0	UBD	29631982	0.000000	0.05858	0.069000	0.20011	0.309000	0.27889	-0.213000	0.09305	-1.389000	0.02090	-0.308000	0.09152	TTG	A|0.820;G|0.180	0.180	strong		0.463	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			G	29524003	A	G	29524003	3	3	22	1	0	0	0	0	1	0	0	0	16840	131	5	2	349	2	UBD	6	29524003	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	333	29524003	141591064	3506	8614										
OR2H2	7932	hgsc.bcm.edu	37	chr6	29555778	29555778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcttctctgaacacccAgggctggaaaggactctctt	11	12	2	1	rs2235698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29555778A>G	ENST00000383640.2	+	1	96	c.57A>G	c.(55-57)ccA>ccG	p.P19P	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	19					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGAACACCCAGGGCTGGAAA	0.557													A|||	1347	0.26897	0.1573	0.2997	5008	,	,		19973	0.3393		0.2555	False		,,,				2504	0.3395				p.P19P		Atlas-SNP	.											OR2H2,NS,carcinoma,+1,1	OR2H2	29	1	0			c.A57G						PASS	.	A		622,2400		74,474,963	173	178	176		57	-1.5	0.1	6	dbSNP_98	176	1286,4132		168,950,1591	no	coding-synonymous	OR2H2	NM_007160.3		242,1424,2554	GG,GA,AA		23.7357,20.5824,22.6066		19/313	29555778	1908,6532	1511	2709	4220	SO:0001819	synonymous_variant	7932	exon1			ACACCCAGGGCTG		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.57A>G	6.37:g.29555778A>G		Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	265	128	0.483019	NM_007160	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	ENST00000383640.2	37	CCDS34365.1																																																																																			A|0.764;G|0.236	0.236	strong		0.557	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			G	29555778	A	G	29555778	2	3	22	1	0	0	0	0	0	0	0	1	11002	175	7	3		3	OR2H2	6	29555778	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31775	29555778	141559289	3507	8615										
HLA-G	3135	hgsc.bcm.edu	37	chr6	29795636	29795636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaggatggtggtcatggcGccccgaaccctcttcctgct	11	15	2	0	rs1630223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29795636G>A	ENST00000360323.6	+	1	39	c.15G>A	c.(13-15)gcG>gcA	p.A5A	HLA-G_ENST00000376818.3_Silent_p.A5A|HLA-G_ENST00000428701.1_Silent_p.A5A|HLA-G_ENST00000376815.3_Silent_p.A5A|HLA-G_ENST00000376828.2_Silent_p.A10A			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	5					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGTCATGGCGCCCCGAACCC	0.652													g|||	2726	0.544329	0.5083	0.4654	5008	,	,		14134	0.6032		0.4324	False		,,,				2504	0.7035				p.A5A		Atlas-SNP	.											.	HLA-G	90	.	0			c.G15A						PASS	.	G		1538,1484		392,754,365	42	47	45		15	1.7	0	6	dbSNP_89	45	2507,2911		598,1311,800	no	coding-synonymous	HLA-G	NM_002127.5		990,2065,1165	AA,AG,GG		46.2717,49.1066,47.9265		5/339	29795636	4045,4395	1511	2709	4220	SO:0001819	synonymous_variant	3135	exon2			CATGGCGCCCCGA		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.15G>A	6.37:g.29795636G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	201	91	0.452736	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			G|0.509;A|0.491	0.491	strong		0.652	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		A	29795636	G	A	29795636	2	1	22	1	0	0	0	0	0	0	0	1	7212	1074	38	1		1	HLA-G	6	29795636	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	239858	29795636	141319431	3508	8616			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29795657	29795657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgaaccctcttcctgctGctctcgggggccctgaccct	9	20	2	1	rs1630185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29795657G>A	ENST00000360323.6	+	1	60	c.36G>A	c.(34-36)ctG>ctA	p.L12L	HLA-G_ENST00000376818.3_Silent_p.L12L|HLA-G_ENST00000428701.1_Silent_p.L12L|HLA-G_ENST00000376828.2_Silent_p.L17L|HLA-G_ENST00000376815.3_Silent_p.L12L			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	12					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCTTCCTGCTGCTCTCGGGGG	0.706													g|||	2726	0.544329	0.5083	0.4654	5008	,	,		13560	0.6032		0.4324	False		,,,				2504	0.7035				p.L12L		Atlas-SNP	.											.	HLA-G	90	.	0			c.G36A						PASS	.	G		1538,1484		393,752,366	38	43	41		36	0.6	0.3	6	dbSNP_89	41	2507,2911		597,1313,799	no	coding-synonymous	HLA-G	NM_002127.5		990,2065,1165	AA,AG,GG		46.2717,49.1066,47.9265		12/339	29795657	4045,4395	1511	2709	4220	SO:0001819	synonymous_variant	3135	exon2			CCTGCTGCTCTCG		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.36G>A	6.37:g.29795657G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	184	80	0.434783	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			G|0.518;A|0.482	0.482	strong		0.706	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		A	29795657	G	A	29795657	2	1	22	1	0	0	0	0	0	0	0	1	7212	1306	46	2		2	HLA-G	6	29795657	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21	29795657	141319410	3509	8617			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29795913	29795913	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgggctacgtggacgacAcgcagttcgtgcggttcgac	14	12	0	0	rs41551813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29795913A>T	ENST00000360323.6	+	2	187	c.163A>T	c.(163-165)Acg>Tcg	p.T55S	HLA-G_ENST00000428701.1_Missense_Mutation_p.T55S|HLA-G_ENST00000376828.2_Missense_Mutation_p.T60S|HLA-G_ENST00000376818.3_Missense_Mutation_p.T55S|HLA-G_ENST00000376815.3_Missense_Mutation_p.T55S			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	55	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGTGGACGACACGCAGTTCGT	0.701													a|||	270	0.0539137	0.1127	0.0893	5008	,	,		12369	0.0079		0.0268	False		,,,				2504	0.0245				p.T55S		Atlas-SNP	.											.	HLA-G	90	.	0			c.A163T						PASS	.	A	SER/THR	279,2739		16,247,1246	35	26	29		163	-2	0.9	6	dbSNP_127	29	206,5210		4,198,2506	no	missense	HLA-G	NM_002127.5	58	20,445,3752	TT,TA,AA		3.8035,9.2445,5.7505	possibly-damaging	55/339	29795913	485,7949	1509	2708	4217	SO:0001583	missense	3135	exon3			GACGACACGCAGT		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.163A>T	6.37:g.29795913A>T	ENSP00000353472:p.Thr55Ser	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	88	53	0.602273	NM_002127		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	107	0.04899267399267399	45	0.09146341463414634	34	0.09392265193370165	8	0.013986013986013986	20	0.026385224274406333	.	12.12	1.843036	0.32606	0.092445	0.038035	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00808	9.4;9.4;9.4;5.67;5.67	1.71	-2.02	0.07388	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.146220	0.07139	U	0.846876	T	0.03739	0.0106	H	0.98754	4.32	0.53005	P	3.399999999997849E-5	D;D;D;B	0.71674	0.994;0.997;0.998;0.049	D;D;D;B	0.85130	0.982;0.997;0.972;0.031	T	0.12993	-1.0526	9	0.87932	D	0	.	2.1121	0.03705	0.4076:0.2977:0.0:0.2947	rs41551813;rs61761352	55;60;55;55	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	S	60;55;55;55;55	ENSP00000366024:T60S;ENSP00000412927:T55S;ENSP00000353472:T55S;ENSP00000366014:T55S;ENSP00000366011:T55S	ENSP00000353472:T55S	T	+	1	0	HLA-G	29903892	0.000000	0.05858	0.945000	0.38365	0.609000	0.37215	-0.523000	0.06230	-0.064000	0.13043	0.241000	0.17934	ACG	A|0.948;T|0.052	0.052	strong		0.701	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29795913	A	T	29795913	3	4	22	1	0	0	0	0	1	0	0	0	7212	159	6	5	169	5	HLA-G	6	29795913	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	256	29795913	141319154	3510	8618			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29795993	29795993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtggagcaggaggggccGgagtattgggaagaggagac	22	4	0	2	rs1130355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29795993G>A	ENST00000360323.6	+	2	267	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HLA-G_ENST00000428701.1_Silent_p.P81P|HLA-G_ENST00000376828.2_Silent_p.P86P|HLA-G_ENST00000376818.3_Silent_p.P81P|HLA-G_ENST00000376815.3_Silent_p.P81P			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	81	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AGGAGGGGCCGGAGTATTGGG	0.647													g|||	2726	0.544329	0.5083	0.4654	5008	,	,		13086	0.6032		0.4324	False		,,,				2504	0.7035				p.P81P		Atlas-SNP	.											.	HLA-G	90	.	0			c.G243A						PASS	.	G		1537,1485		391,755,365	55	35	42		243	0.8	1	6	dbSNP_86	42	2509,2909		599,1311,799	no	coding-synonymous	HLA-G	NM_002127.5		990,2066,1164	AA,AG,GG		46.3086,49.1396,47.9384		81/339	29795993	4046,4394	1511	2709	4220	SO:0001819	synonymous_variant	3135	exon3			GGGGCCGGAGTAT		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.243G>A	6.37:g.29795993G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	110	35	0.318182	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			G|0.500;A|0.500	0.500	strong		0.647	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		A	29795993	G	A	29795993	2	1	22	1	0	0	0	0	0	0	0	1	7212	1103	39	1		1	HLA-G	6	29795993	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80	29795993	141319074	3511	8619			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29796327	29796327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtggggccaggttctcaCaccctccagtggatgattgg	16	10	1	1	rs1130356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29796327C>T	ENST00000360323.6	+	3	375	c.351C>T	c.(349-351)caC>caT	p.H117H	HLA-G_ENST00000428701.1_Silent_p.H117H|HLA-G_ENST00000376828.2_Silent_p.H122H|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	117	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGGTTCTCACACCCTCCAGT	0.662													c|||	1253	0.2502	0.2625	0.2565	5008	,	,		13097	0.1141		0.2763	False		,,,				2504	0.3425				p.H117H		Atlas-SNP	.											.	HLA-G	90	.	0			c.C351T						PASS	.	C		823,2195		112,599,798	68	72	71		351	0.8	0.2	6	dbSNP_86	71	1692,3724		272,1148,1288	no	coding-synonymous	HLA-G	NM_002127.5		384,1747,2086	TT,TC,CC		31.2408,27.2697,29.8198		117/339	29796327	2515,5919	1509	2708	4217	SO:0001819	synonymous_variant	3135	exon4			TTCTCACACCCTC		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.351C>T	6.37:g.29796327C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	134	62	0.462687	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			C|0.734;T|0.266	0.266	strong		0.662	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29796327	C	T	29796327	2	4	22	1	0	0	0	0	0	0	0	1	7212	477	17	2		2	HLA-G	6	29796327	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	334	29796327	141318740	3512	8620			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29797211	29797211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagacccccccaagacacaCgtgacccaccaccctgtctt	5	20	2	3	rs41562616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29797211C>T	ENST00000360323.6	+	4	660	c.636C>T	c.(634-636)caC>caT	p.H212H	HLA-G_ENST00000376828.2_Silent_p.H217H|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Silent_p.H212H|HLA-G_ENST00000376818.3_Silent_p.H120H			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	212	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCAAGACACACGTGACCCACC	0.562													c|||	270	0.0539137	0.1127	0.0893	5008	,	,		19002	0.0079		0.0268	False		,,,				2504	0.0245				p.H212H		Atlas-SNP	.											.	HLA-G	90	.	0			c.C636T						PASS	.	C		402,4004		23,356,1824	100	105	103		636	-3.4	0	6	dbSNP_127	103	305,8295		8,289,4003	no	coding-synonymous	HLA-G	NM_002127.5		31,645,5827	TT,TC,CC		3.5465,9.1239,5.436		212/339	29797211	707,12299	2203	4300	6503	SO:0001819	synonymous_variant	3135	exon5			GACACACGTGACC		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.636C>T	6.37:g.29797211C>T		Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	237	123	0.518987	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			C|0.948;T|0.052	0.052	strong		0.562	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797211	C	T	29797211	2	4	22	1	0	0	0	0	0	0	0	1	7212	535	19	1		1	HLA-G	6	29797211	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	884	29797211	141317856	3513	8621			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29797639	29797639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatgggtatcgttgctggCctggttgtccttgcagctgt	13	9	1	0	rs1049033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29797639C>T	ENST00000360323.6	+	5	966	c.942C>T	c.(940-942)ggC>ggT	p.G314G	HLA-G_ENST00000428701.1_Silent_p.G314G|HLA-G_ENST00000376828.2_Silent_p.G319G|HLA-G_ENST00000376818.3_Silent_p.G222G|HLA-G_ENST00000376815.3_Silent_p.G130G			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	314					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCGTTGCTGGCCTGGTTGTCC	0.597													N|||	1161	0.231829	0.2504	0.245	5008	,	,		20908	0.1091		0.2555	False		,,,				2504	0.2996				p.G314G		Atlas-SNP	.											.	HLA-G	90	.	0			c.C942T						PASS	.	C		1182,3224		158,866,1179	109	90	96		942	-0.2	0	6	dbSNP_86	96	2541,6059		367,1807,2126	no	coding-synonymous	HLA-G	NM_002127.5		525,2673,3305	TT,TC,CC		29.5465,26.8271,28.6252		314/339	29797639	3723,9283	2203	4300	6503	SO:0001819	synonymous_variant	3135	exon6			TGCTGGCCTGGTT		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.942C>T	6.37:g.29797639C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	295	127	0.430508	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			C|0.738;T|0.262	0.262	strong		0.597	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797639	C	T	29797639	2	4	22	1	0	0	0	0	0	0	0	1	7212	726	26	2		2	HLA-G	6	29797639	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	428	29797639	141317428	3514	8622			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-G	3135	hgsc.bcm.edu	37	chr6	29797696	29797696	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgctgctgtgctgtggagAaagaagagctcaggtaagga	16	6	1	3	rs1130363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29797696A>G	ENST00000360323.6	+	5	1023	c.999A>G	c.(997-999)agA>agG	p.R333R	HLA-G_ENST00000428701.1_Silent_p.R333R|HLA-G_ENST00000376828.2_Silent_p.R338R|HLA-G_ENST00000376818.3_Silent_p.R241R|HLA-G_ENST00000376815.3_Silent_p.R149R			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	333					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGCTGTGGAGAAAGAAGAGCT	0.567													N|||	2995	0.598043	0.621	0.5548	5008	,	,		20312	0.6101		0.4592	False		,,,				2504	0.728				p.R333R		Atlas-SNP	.											.	HLA-G	90	.	0			c.A999G						PASS	.	G		2670,1736		804,1062,337	79	72	74		999	1.3	0	6	dbSNP_86	74	4364,4236		1111,2142,1047	no	coding-synonymous	HLA-G	NM_002127.5		1915,3204,1384	GG,GA,AA		49.2558,39.4008,45.9173		333/339	29797696	7034,5972	2203	4300	6503	SO:0001819	synonymous_variant	3135	exon6			GTGGAGAAAGAAG		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.999A>G	6.37:g.29797696A>G		Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	208	208	1	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			A|0.442;G|0.558	0.558	strong		0.567	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		G	29797696	A	G	29797696	2	3	22	1	0	0	0	0	0	0	0	1	7212	243	9	2		2	HLA-G	6	29797696	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	57	29797696	141317371	3515	8623			10	39		8	8	2061	N	G_C_A	1.205467e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910340	29910340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacgccgaggatggccgtcAtggcgccccgaaccctcctc	12	17	1	1	rs79326316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910340A>G	ENST00000396634.1	+	3	351	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	HLA-A_ENST00000376809.5_Missense_Mutation_p.M4V|HLA-A_ENST00000376802.2_Missense_Mutation_p.M4V|HLA-A_ENST00000376806.5_Missense_Mutation_p.M4V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	4					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GATGGCCGTCATGGCGCCCCG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.M4V		Atlas-SNP	.											.	HLA-A	89	.	0			c.A10G						PASS	.						36	38	37					6																	29910340		2201	4295	6496	SO:0001583	missense	3105	exon1	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GCCGTCATGGCGC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.10A>G	6.37:g.29910340A>G	ENSP00000379873:p.Met4Val	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	266	54	0.203008	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	4.992	0.184267	0.09495	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00644	6.02;6.01;6.02;6.07	2.84	-5.68	0.02436	.	3.605040	0.01925	U	0.040781	T	0.00637	0.0021	M	0.76170	2.325	0.09310	N	1	P;B;B;B	0.42203	0.773;0.0;0.0;0.0	P;B;B;B	0.50270	0.636;0.001;0.001;0.001	T	0.11108	-1.0601	10	0.87932	D	0	.	5.9599	0.19293	0.2488:0.3159:0.4353:0.0	.	4;4;4;4	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	V	4	ENSP00000379873:M4V;ENSP00000366002:M4V;ENSP00000366005:M4V;ENSP00000365998:M4V	ENSP00000348012:M4V	M	+	1	0	HLA-A	30018319	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.865000	0.01649	-1.630000	0.01545	-0.537000	0.04273	ATG	A|0.971;G|0.029	0.029	strong		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910340	A	G	29910340	3	3	22	1	0	0	0	0	1	0	0	0	7195	217	8	2	12	2	HLA-A	6	29910340	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	112644	29910340	141204727	3516	8624			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910562	29910562	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatgaggtatttcttcacAtccgtgtcccggcccggccg	10	15	2	1	rs281864725|rs1059418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910562A>C	ENST00000396634.1	+	4	443	c.102A>C	c.(100-102)acA>acC	p.T34T	HLA-A_ENST00000376809.5_Silent_p.T34T|HLA-A_ENST00000376802.2_Silent_p.T34T|HLA-A_ENST00000376806.5_Silent_p.T34T			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	34	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATTTCTTCACATCCGTGTCCC	0.721									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	1002	0.20008	0.1641	0.1182	5008	,	,		13677	0.3284		0.1282	False		,,,				2504	0.2485				p.T34T		Atlas-SNP	.											.	HLA-A	89	.	0			c.A102C						PASS	.						17	16	16					6																	29910562		2189	4275	6464	SO:0001819	synonymous_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CTTCACATCCGTG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.102A>C	6.37:g.29910562A>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			A|0.837;C|0.159;T|0.004	0.159	strong		0.721	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29910562	A	C	29910562	2	2	22	1	0	0	0	0	0	0	0	1	7195	204	8	5		5	HLA-A	6	29910562	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	222	29910562	141204505	3517	8625			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910581	29910581	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccgtgtcccggcccggcCgcggggagccccgcttcatc					rs386698550|rs1059423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910581C>A	ENST00000396634.1	+	4	462	c.121C>A	c.(121-123)Cgc>Agc	p.R41S	HLA-A_ENST00000376809.5_Missense_Mutation_p.R41S|HLA-A_ENST00000376802.2_Missense_Mutation_p.R41S|HLA-A_ENST00000376806.5_Missense_Mutation_p.R41S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	41	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGGCCCGGCCGCGGGGAGCC	0.716									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	623	0.124401	0.2368	0.1225	5008	,	,		14373	0.1042		0.0577	False		,,,				2504	0.0634				p.R41S		Atlas-SNP	.											.	HLA-A	89	.	0			c.C121A						PASS	.						19	18	18					6																	29910581		2193	4286	6479	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CCCGGCCGCGGGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.121C>A	6.37:g.29910581C>A	ENSP00000379873:p.Arg41Ser	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	93	20	0.215054	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	241	0.11034798534798534	120	0.24390243902439024	40	0.11049723756906077	51	0.08916083916083917	30	0.0395778364116095	.	10.33	1.321091	0.23994	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00009	9.53;9.53;9.53;9.53	3.4	1.48	0.22813	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1.343590	0.05838	U	0.618791	T	0.00073	0.0002	M	0.92738	3.34	0.80722	P	0.0	P;B;B;B	0.35456	0.502;0.0;0.0;0.376	B;B;B;B	0.39840	0.311;0.004;0.004;0.201	T	0.26815	-1.0092	9	0.87932	D	0	.	4.4868	0.11794	0.2164:0.6608:0.0:0.1228	rs1059423;rs2230967;rs3200107;rs16896583;rs17423964;rs41547420	41;41;41;41	P13746;Q5SRN7;Q5SRN5;P04439	1A11_HUMAN;.;.;1A03_HUMAN	S	41	ENSP00000379873:R41S;ENSP00000366002:R41S;ENSP00000366005:R41S;ENSP00000365998:R41S	ENSP00000348012:R41S	R	+	1	0	HLA-A	30018560	0.003000	0.15002	0.087000	0.20705	0.517000	0.34286	0.736000	0.26130	0.232000	0.21100	0.478000	0.44815	CGC	A|0.089;C|0.911	0.089	strong		0.716	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910581	C	A	29910581	3	1	22	1	0	0	0	0	1	0	0	0	7195	652	23	4	127	4	HLA-A	6	29910581	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	29910581	141204486	3518	8626	162	3	11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910583	29910583	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgtgtcccggcccggccgCggggagccccgcttcatcgc					rs386698550|rs1059426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910583C>T	ENST00000396634.1	+	4	464	c.123C>T	c.(121-123)cgC>cgT	p.R41R	HLA-A_ENST00000376809.5_Silent_p.R41R|HLA-A_ENST00000376802.2_Silent_p.R41R|HLA-A_ENST00000376806.5_Silent_p.R41R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	41	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGCCCGGCCGCGGGGAGCCCC	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	623	0.124401	0.2368	0.1225	5008	,	,		14781	0.1042		0.0577	False		,,,				2504	0.0634				p.R41R		Atlas-SNP	.											.	HLA-A	89	.	1	Deletion - Frameshift(1)	ovary(1)	c.C123T						PASS	.						19	19	19					6																	29910583		2193	4286	6479	SO:0001819	synonymous_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CGGCCGCGGGGAG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.123C>T	6.37:g.29910583C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	97	20	0.206186	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			C|0.911;T|0.089	0.089	strong		0.711	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29910583	C	T	29910583	2	4	22	1	0	0	0	0	0	0	0	1	7195	755	27	1		1	HLA-A	6	29910583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	29910583	141204484	3519	8627	162	3	11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910586	29910586	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtcccggcccggccgcggGgagccccgcttcatcgccgt					rs12721672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910586G>A	ENST00000396634.1	+	4	467	c.126G>A	c.(124-126)ggG>ggA	p.G42G	HLA-A_ENST00000376809.5_Silent_p.G42G|HLA-A_ENST00000376802.2_Silent_p.G42G|HLA-A_ENST00000376806.5_Silent_p.G42G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	42	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGGCCGCGGGGAGCCCCGCT	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	682	0.136182	0.2405	0.134	5008	,	,		14806	0.131		0.0666	False		,,,				2504	0.0736				p.G42G		Atlas-SNP	.											.	HLA-A	89	.	1	Deletion - Frameshift(1)	ovary(1)	c.G126A						PASS	.						23	21	22					6																	29910586		2198	4294	6492	SO:0001819	synonymous_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CCGCGGGGAGCCC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.126G>A	6.37:g.29910586G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	111	23	0.207207	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			A|0.105;G|0.895	0.105	strong		0.711	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910586	G	A	29910586	2	1	22	1	0	0	0	0	0	0	0	1	7195	1219	43	2		2	HLA-A	6	29910586	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	29910586	141204481	3520	8628	162	3	11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910660	29910660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgacagcgacgccgcgagccAgaggatggagccgcgggcgc	18	14	0	1	rs41559117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29910660A>G	ENST00000396634.1	+	4	541	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q67R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q67R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q67R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	67	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGCGAGCCAGAGGATGGAG	0.682									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	114	0.0227636	0.0575	0.0288	5008	,	,		14823	0.002		0.007	False		,,,				2504	0.0092				p.Q67R		Atlas-SNP	.											.	HLA-A	89	.	0			c.A200G						PASS	.	A	ARG/GLN	189,4215		2,185,2015	48	46	46		200	-0.8	0.2	6	dbSNP_127	46	76,8522		0,76,4223	no	missense	HLA-A	NM_002116.7	43	2,261,6238	GG,GA,AA		0.8839,4.2916,2.0381	possibly-damaging	67/366	29910660	265,12737	2202	4299	6501	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CGAGCCAGAGGAT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.200A>G	6.37:g.29910660A>G	ENSP00000379873:p.Gln67Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	219	54	0.246575	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	36	0.016483516483516484	22	0.044715447154471545	8	0.022099447513812154	2	0.0034965034965034965	4	0.005277044854881266	.	6.554	0.470589	0.12461	0.042916	0.008839	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00705	5.81;5.81;5.81;5.81	3.72	-0.813	0.10850	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	.	.	.	.	T	0.00580	0.0019	N	0.21545	0.675	0.09310	N	1	B;D;B;D;B	0.54772	0.0;0.968;0.001;0.968;0.0	B;D;B;D;B	0.75484	0.006;0.986;0.006;0.986;0.006	T	0.55673	-0.8104	9	0.49607	T	0.09	.	5.0607	0.14555	0.5529:0.3361:0.0:0.1109	rs41559117	67;67;67;67;67	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	67	ENSP00000379873:Q67R;ENSP00000366002:Q67R;ENSP00000366005:Q67R;ENSP00000365998:Q67R	ENSP00000348012:Q67R	Q	+	2	0	HLA-A	30018639	0.000000	0.05858	0.192000	0.23308	0.357000	0.29423	-1.236000	0.02925	0.031000	0.15407	-1.821000	0.00599	CAG	A|0.977;C|0.002;G|0.021	0.021	strong		0.682	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910660	A	G	29910660	3	3	22	1	0	0	0	0	1	0	0	0	7195	188	7	3	206	3	HLA-A	6	29910660	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74	29910660	141204407	3521	8629			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911086	29911086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtatggctgcgacgtggggTcggacgggcgcttcctccgc	17	12	0	0	rs1136700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29911086T>C	ENST00000396634.1	+	5	726	c.385T>C	c.(385-387)Tcg>Ccg	p.S129P	HLA-A_ENST00000376809.5_Missense_Mutation_p.S129P|HLA-A_ENST00000376802.2_Missense_Mutation_p.S129P|HLA-A_ENST00000376806.5_Missense_Mutation_p.S129P			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	129	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGACGTGGGGTCGGACGGGCG	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			t|||	1516	0.302716	0.289	0.1599	5008	,	,		11361	0.3264		0.2803	False		,,,				2504	0.4213				p.S129P		Atlas-SNP	.											HLA-A,NS,carcinoma,-1,1	HLA-A	89	1	0			c.T385C						PASS	.	T	PRO/SER	803,2195		163,477,859	27	21	23		385	-0.5	0.3	6	dbSNP_86	23	1878,3516		404,1070,1223	no	missense	HLA-A	NM_002116.7	74	567,1547,2082	CC,CT,TT		34.8165,26.7845,31.9471	benign	129/366	29911086	2681,5711	1499	2697	4196	SO:0001583	missense	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGGGGTCGGACG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.385T>C	6.37:g.29911086T>C	ENSP00000379873:p.Ser129Pro	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	71	44	0.619718	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	585	0.26785714285714285	142	0.2886178861788618	58	0.16022099447513813	164	0.2867132867132867	221	0.29155672823219	.	6.812	0.518971	0.13005	0.267845	0.348165	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00009	9.47;9.47;9.47;9.47	3.78	-0.459	0.12179	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	3.406660	0.02719	N	0.113799	T	0.00012	0.0000	N	0.00808	-1.17	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.08680	-1.0710	9	0.02654	T	1	.	5.9403	0.19189	0.0:0.3406:0.4626:0.1968	rs1136700;rs3179190;rs3200177;rs9260153;rs17423992;rs41563619	8;129;129;129;129	B4DVB9;Q5SRN7;P16188;Q5SRN5;P04439	.;.;1A30_HUMAN;.;1A03_HUMAN	P	129	ENSP00000379873:S129P;ENSP00000366002:S129P;ENSP00000366005:S129P;ENSP00000365998:S129P	ENSP00000348012:S129P	S	+	1	0	HLA-A	30019065	0.000000	0.05858	0.258000	0.24420	0.545000	0.35147	-0.115000	0.10741	-0.232000	0.09811	-0.388000	0.06559	TCG	C|0.299;T|0.701	0.299	strong		0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29911086	T	C	29911086	3	2	22	1	0	0	0	0	1	0	0	0	7195	1667	58	2	395	2	HLA-A	6	29911086	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	426	29911086	141203981	3522	8630			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912085	29912085	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaaccttccagaagtgggCggctgtggtggtgccttctg					rs148794540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29912085C>T	ENST00000396634.1	+	6	1147	c.806C>T	c.(805-807)gCg>gTg	p.A269V	HLA-A_ENST00000376809.5_Missense_Mutation_p.A269V|HLA-A_ENST00000376802.2_Missense_Mutation_p.A269V|HLA-A_ENST00000376806.5_Missense_Mutation_p.A269V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	269	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAGAAGTGGGCGGCTGTGGTG	0.627									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A269V		Atlas-SNP	.											.	HLA-A	89	.	0			c.C806T						PASS	.						30	30	30					6																	29912085		1510	2703	4213	SO:0001583	missense	3105	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	AGTGGGCGGCTGT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.806C>T	6.37:g.29912085C>T	ENSP00000379873:p.Ala269Val	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	377	68	0.180371	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	111	0.050824175824175824	52	0.10569105691056911	28	0.07734806629834254	5	0.008741258741258742	26	0.03430079155672823	.	10.60	1.394867	0.25205	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	3.69	3.69	0.42338	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.171004	0.27023	N	0.021307	T	0.04634	0.0126	L	0.48174	1.505	0.27755	N	0.944011	D;B;D;B;D;B;B	0.89917	0.998;0.118;1.0;0.029;1.0;0.029;0.029	D;B;D;B;D;B;B	0.83275	0.951;0.02;0.996;0.02;0.996;0.02;0.02	T	0.13899	-1.0492	10	0.59425	D	0.04	.	11.1517	0.48462	0.0:1.0:0.0:0.0	rs41562917	148;269;269;269;269;269;269	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	269;269;57;269;269	ENSP00000379873:A269V;ENSP00000366002:A269V;ENSP00000366005:A269V;ENSP00000365998:A269V	ENSP00000365998:A269V	A	+	2	0	HLA-A	30020064	0.015000	0.18098	0.947000	0.38551	0.843000	0.47879	-0.097000	0.11042	2.070000	0.61991	0.485000	0.47835	GCG	C|0.973;T|0.027	0.027	strong		0.627	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912085	C	T	29912085	3	4	22	1	0	0	0	0	1	0	0	0	7195	768	27	1	820	1	HLA-A	6	29912085	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	999	29912085	141202982	3523	8631	163	2	11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912087	29912087	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccttccagaagtgggcgGctgtggtggtgccttctgga					rs1059632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29912087G>T	ENST00000396634.1	+	6	1149	c.808G>T	c.(808-810)Gct>Tct	p.A270S	HLA-A_ENST00000376809.5_Missense_Mutation_p.A270S|HLA-A_ENST00000376802.2_Missense_Mutation_p.A270S|HLA-A_ENST00000376806.5_Missense_Mutation_p.A270S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	270	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAAGTGGGCGGCTGTGGTGGT	0.627									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A270S		Atlas-SNP	.											.	HLA-A	89	.	0			c.G808T						PASS	.						31	31	31					6																	29912087		1510	2705	4215	SO:0001583	missense	3105	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TGGGCGGCTGTGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.808G>T	6.37:g.29912087G>T	ENSP00000379873:p.Ala270Ser	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	377	118	0.312997	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	8.494	0.862723	0.17178	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.69	2.8	0.32819	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.636476	0.12630	U	0.452285	T	0.17280	0.0415	L	0.55481	1.735	0.58432	P	1.999999999946489E-6	P;B;D;B;D;B;B	0.62365	0.823;0.0;0.991;0.0;0.991;0.0;0.0	D;B;D;B;D;B;B	0.91635	0.973;0.038;0.999;0.038;0.999;0.038;0.038	T	0.03157	-1.1066	9	0.49607	T	0.09	.	8.6885	0.34251	0.0:0.0:0.7739:0.2261	rs2231093;rs17840079	149;270;270;270;270;270;270	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	S	270;270;58;270;270	ENSP00000379873:A270S;ENSP00000366002:A270S;ENSP00000366005:A270S;ENSP00000365998:A270S	ENSP00000365998:A270S	A	+	1	0	HLA-A	30020066	0.000000	0.05858	0.652000	0.29579	0.832000	0.47134	0.401000	0.20948	0.870000	0.35726	0.485000	0.47835	GCT	G|0.860;T|0.140	0.140	strong		0.627	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912087	G	T	29912087	3	4	22	1	0	0	0	0	1	0	0	0	7195	1203	42	4	822	4	HLA-A	6	29912087	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	29912087	141202980	3524	8632	163	2	11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912315	29912315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccccatcgtgggcatcAttgctggcctggttctcctt	9	15	2	0	rs41554316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29912315A>C	ENST00000396634.1	+	7	1275	c.934A>C	c.(934-936)Att>Ctt	p.I312L	HLA-A_ENST00000376809.5_Missense_Mutation_p.I312L|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.I312L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	312					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGTGGGCATCATTGCTGGCCT	0.607									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.I312L		Atlas-SNP	.											.	HLA-A	89	.	0			c.A934C						PASS	.						106	100	102					6																	29912315		1510	2709	4219	SO:0001583	missense	3105	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GGCATCATTGCTG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.934A>C	6.37:g.29912315A>C	ENSP00000379873:p.Ile312Leu	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	530	173	0.326415	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	278	0.12728937728937728	107	0.21747967479674796	53	0.1464088397790055	87	0.1520979020979021	31	0.040897097625329816	.	6.803	0.517242	0.13005	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00695	5.86;5.83;5.86	3.69	-7.38	0.01407	.	0.936076	0.08704	U	0.905960	T	0.00440	0.0014	M	0.78049	2.395	0.09310	N	1	B;B;B;B;B	0.18461	0.028;0.0;0.018;0.0;0.0	B;B;B;B;B	0.22753	0.004;0.003;0.041;0.003;0.002	T	0.34079	-0.9843	10	0.87932	D	0	.	7.9928	0.30250	0.3199:0.1368:0.5432:0.0	rs41554316	191;312;312;312;312	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	L	312	ENSP00000379873:I312L;ENSP00000366002:I312L;ENSP00000366005:I312L	ENSP00000366002:I312L	I	+	1	0	HLA-A	30020294	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.381000	0.00491	-1.707000	0.01402	-1.766000	0.00665	ATT	A|0.889;C|0.111	0.111	strong		0.607	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29912315	A	C	29912315	3	2	22	1	0	0	0	0	1	0	0	0	7195	217	8	5	952	5	HLA-A	6	29912315	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	228	29912315	141202752	3525	8633			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912348	29912348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccttggagctgtgatcActggagctgtggtcgctgcc	13	11	2	1	rs1137078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:29912348A>G	ENST00000396634.1	+	7	1308	c.967A>G	c.(967-969)Act>Gct	p.T323A	HLA-A_ENST00000376809.5_Missense_Mutation_p.T323A|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.T323A			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	323					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGCTGTGATCACTGGAGCTGT	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	1292	0.257987	0.3994	0.2305	5008	,	,		19059	0.1984		0.1769	False		,,,				2504	0.2311				p.T323A		Atlas-SNP	.											.	HLA-A	89	.	0			c.A967G						PASS	.						111	106	108					6																	29912348		1511	2709	4220	SO:0001583	missense	3105	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGATCACTGGAG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.967A>G	6.37:g.29912348A>G	ENSP00000379873:p.Thr323Ala	Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	522	179	0.342912	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	527	0.2413003663003663	198	0.4024390243902439	87	0.24033149171270718	121	0.21153846153846154	121	0.15963060686015831	.	3.109	-0.183024	0.06340	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00648	6.02;5.99;6.02	3.09	-6.18	0.02085	.	0.889866	0.09141	U	0.842941	T	0.00241	0.0007	L	0.43701	1.375	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.002	T	0.39231	-0.9624	9	0.87932	D	0	.	5.3051	0.15799	0.3194:0.2957:0.3849:0.0	rs1137078;rs2231112;rs3179280;rs9260189;rs17424431;rs17845173;rs17857981;rs41558515	202;323;323;323;323	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	A	323	ENSP00000379873:T323A;ENSP00000366002:T323A;ENSP00000366005:T323A	ENSP00000366002:T323A	T	+	1	0	HLA-A	30020327	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.200000	0.03029	-1.981000	0.00989	-1.713000	0.00713	ACT	A|0.761;G|0.239	0.239	strong		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29912348	A	G	29912348	3	3	22	1	0	0	0	0	1	0	0	0	7195	159	6	2	985	2	HLA-A	6	29912348	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	29912348	141202719	3526	8634			11	40	112644	11	8	2009	N	T_G_C_A	1.023988e-05
PPP1R11	6992	hgsc.bcm.edu	37	chr6	30036471	30036471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgggccgccgctcatcCaaatgtgagtaattgttggc	11	11	1	1	rs2074482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30036471C>A	ENST00000376772.3	+	2	497	c.174C>A	c.(172-174)tcC>tcA	p.S58S	PPP1R11_ENST00000376769.2_Silent_p.S6S|PPP1R11_ENST00000376763.1_Silent_p.S6S|PPP1R11_ENST00000376773.1_Silent_p.S6S|PPP1R11_ENST00000376758.1_Silent_p.S6S|PPP1R11_ENST00000376765.2_Silent_p.S6S	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	58						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GCCGCTCATCCAAATGTGAGT	0.507													A|||	958	0.191294	0.2988	0.1744	5008	,	,		18885	0.1905		0.0954	False		,,,				2504	0.1575				p.S58S	Pancreas(185;1767 3918 43793)	Atlas-SNP	.											.	PPP1R11	10	.	0			c.C174A						PASS	.	A		772,2250		93,586,832	78	72	74		174	-0.3	1	6	dbSNP_96	74	650,4768		48,554,2107	no	coding-synonymous	PPP1R11	NM_021959.2		141,1140,2939	AA,AC,CC		11.997,25.546,16.8483		58/127	30036471	1422,7018	1511	2709	4220	SO:0001819	synonymous_variant	6992	exon2			CTCATCCAAATGT	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.174C>A	6.37:g.30036471C>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	60	28	0.466667	NM_021959		Silent	SNP	ENST00000376772.3	37	CCDS4671.1																																																																																			C|0.809;A|0.191	0.191	strong		0.507	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		A	30036471	C	A	30036471	2	1	22	1	0	0	0	0	0	0	0	1	12353	581	21	4		4	PPP1R11	6	30036471	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124123	30036471	141078596	3527	8635										
RNF39	80352	hgsc.bcm.edu	37	chr6	30039240	30039240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggctctcctcgtcgtccGcatcctccccagaagagtct	9	16	2	2	rs2301753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30039240G>T	ENST00000244360.6	-	4	1008	c.911C>A	c.(910-912)gCg>gAg	p.A304E	RNF39_ENST00000376751.3_Missense_Mutation_p.A304E	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		A -> E (in dbSNP:rs2301753). {ECO:0000269|PubMed:14574404}.			cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTCGTCGTCCGCATCCTCCCC	0.706													t|||	958	0.191294	0.2988	0.1744	5008	,	,		12945	0.1905		0.0954	False		,,,				2504	0.1575				p.A304E	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											.	RNF39	27	.	0			c.C911A						PASS	.		GLU/ALA,GLU/ALA	753,2251		92,569,841	12	9	10		911,911	4.5	0	6	dbSNP_100	10	637,4757		52,533,2112	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	107,107	144,1102,2953	TT,TG,GG		11.8094,25.0666,16.5516	benign,benign	304/421,304/355	30039240	1390,7008	1502	2697	4199	SO:0001583	missense	80352	exon4			TCGTCCGCATCCT	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.911C>A	6.37:g.30039240G>T	ENSP00000244360:p.Ala304Glu	Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	15	9	0.6	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	404	0.184981684981685	146	0.2967479674796748	72	0.19889502762430938	115	0.20104895104895104	71	0.09366754617414248	t	1.410	-0.575640	0.03882	0.250666	0.118094	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.69306	0.03;-0.39	4.54	4.54	0.55810	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.151026	0.29653	N	0.011551	T	0.10637	0.0260	N	0.00707	-1.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15925	-1.0420	9	0.02654	T	1	-14.7253	9.8189	0.40869	0.0:0.0:0.1737:0.8263	rs2301753;rs60004051;rs2301753	304;304	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	E	304	ENSP00000365942:A304E;ENSP00000244360:A304E	ENSP00000244360:A304E	A	-	2	0	RNF39	30147219	0.020000	0.18652	0.045000	0.18777	0.578000	0.36192	0.703000	0.25646	0.706000	0.31912	-1.106000	0.02097	GCG	G|0.804;T|0.196	0.196	strong		0.706	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		T	30039240	G	T	30039240	3	4	22	1	0	0	0	0	1	0	0	0	13491	1087	38	4	355	4	RNF39	6	30039240	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2769	30039240	141075827	3528	8636										
RNF39	80352	hgsc.bcm.edu	37	chr6	30041009	30041009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgaattagatgacttggAtgttgggacttcaaatctac	9	7	3	3	rs2074479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30041009A>G	ENST00000244360.6	-	3	704	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	RNF39_ENST00000376751.3_Missense_Mutation_p.S203P	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	203			S -> P (in dbSNP:rs2074479). {ECO:0000269|PubMed:14574404}.			cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GATGACTTGGATGTTGGGACT	0.468													g|||	958	0.191294	0.2988	0.1744	5008	,	,		20885	0.1905		0.0954	False		,,,				2504	0.1575				p.S203P	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											RNF39_ENST00000244360,NS,carcinoma,+1,1	RNF39	27	1	0			c.T607C						PASS	.		PRO/SER,PRO/SER	772,2250		93,586,832	131	128	129		607,607	4	0.7	6	dbSNP_96	129	650,4768		48,554,2107	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	74,74	141,1140,2939	GG,GA,AA		11.997,25.546,16.8483	benign,benign	203/421,203/355	30041009	1422,7018	1511	2709	4220	SO:0001583	missense	80352	exon3			ACTTGGATGTTGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.607T>C	6.37:g.30041009A>G	ENSP00000244360:p.Ser203Pro	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	144	63	0.4375	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	404	0.184981684981685	146	0.2967479674796748	72	0.19889502762430938	115	0.20104895104895104	71	0.09366754617414248	g	0.008	-1.893380	0.00522	0.25546	0.11997	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.70399	0.04;-0.48	3.99	3.99	0.46301	.	0.546488	0.13684	N	0.370007	T	0.19167	0.0460	N	0.01874	-0.695	0.58432	P	5.999999999950489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07139	-1.0788	9	0.13470	T	0.59	-19.0329	7.844	0.29414	0.1163:0.0:0.8837:0.0	rs2074479;rs52821835;rs60743069;rs2074479	203;203	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	P	203	ENSP00000365942:S203P;ENSP00000244360:S203P	ENSP00000244360:S203P	S	-	1	0	RNF39	30148988	0.782000	0.28689	0.659000	0.29680	0.025000	0.11179	0.836000	0.27545	1.050000	0.40346	-0.372000	0.07161	TCC	A|0.808;G|0.192	0.192	strong		0.468	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		G	30041009	A	G	30041009	3	3	22	1	0	0	0	0	1	0	0	0	13491	333	12	2	663	2	RNF39	6	30041009	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1769	30041009	141074058	3529	8637										
RNF39	80352	hgsc.bcm.edu	37	chr6	30043486	30043486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccgactcccgcattaacTtttgccgctttccgcccctc	5	19	1	0	rs11758516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30043486T>C	ENST00000244360.6	-	1	178	c.81A>G	c.(79-81)aaA>aaG	p.K27K	RNF39_ENST00000376751.3_Silent_p.K27K	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	27						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CCGCATTAACTTTTGCCGCTT	0.602													t|||	682	0.136182	0.2337	0.1138	5008	,	,		16597	0.1339		0.0398	False		,,,				2504	0.1217				p.K27K	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											.	RNF39	27	.	0			c.A81G						PASS	.	T	,	848,3558	316.6+/-294.7	88,672,1443	51	53	52		81,81	-0.4	0	6	dbSNP_120	52	427,8173	129.0+/-187.1	13,401,3886	no	coding-synonymous,coding-synonymous	RNF39	NM_025236.3,NM_170769.2	,	101,1073,5329	CC,CT,TT		4.9651,19.2465,9.8032	,	27/421,27/355	30043486	1275,11731	2203	4300	6503	SO:0001819	synonymous_variant	80352	exon1			ATTAACTTTTGCC	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.81A>G	6.37:g.30043486T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	162	77	0.475309	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	CCDS4673.1																																																																																			T|0.897;C|0.103	0.103	strong		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		C	30043486	T	C	30043486	2	2	22	1	0	0	0	0	0	0	0	1	13491	1606	56	3		3	RNF39	6	30043486	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2477	30043486	141071581	3530	8638										
TRIM31	11074	hgsc.bcm.edu	37	chr6	30071330	30071330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttagcttgaaggaacctCacaaaaccaagcccggatcg	10	12	1	1	rs1116221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30071330C>T	ENST00000376734.3	-	9	1386	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	TRIM31_ENST00000540829.1_Missense_Mutation_p.E421K|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	421			E -> K (in dbSNP:rs1116221). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GAAGGAACCTCACAAAACCAA	0.582													C|||	1312	0.261981	0.4115	0.2248	5008	,	,		17945	0.0992		0.2207	False		,,,				2504	0.2965				p.E421K		Atlas-SNP	.											.	TRIM31	40	.	0			c.G1261A						PASS	.	C	LYS/GLU	1136,1884		203,730,577	149	166	160		1261	1	0	6	dbSNP_86	160	1412,4004		173,1066,1469	yes	missense	TRIM31	NM_007028.3	56	376,1796,2046	TT,TC,CC		26.0709,37.6159,30.2039	possibly-damaging	421/426	30071330	2548,5888	1510	2708	4218	SO:0001583	missense	11074	exon9			GAACCTCACAAAA	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1261G>A	6.37:g.30071330C>T	ENSP00000365924:p.Glu421Lys	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	54	32	0.592593	NM_007028	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	CCDS34374.1	544	0.2490842490842491	214	0.4349593495934959	90	0.24861878453038674	63	0.11013986013986014	177	0.23350923482849603	C	9.318	1.057418	0.19907	0.376159	0.260709	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.70045	-0.45;-0.45	1.99	1.05	0.20165	.	.	.	.	.	T	0.13200	0.0320	N	0.08118	0	0.80722	P	0.0	P	0.41524	0.753	B	0.28991	0.097	T	0.06661	-1.0814	8	0.09084	T	0.74	.	5.5601	0.17140	0.3261:0.6739:0.0:0.0	rs1116221;rs4081515;rs17187903;rs17845513;rs17858403;rs59822889;rs1116221	421	Q9BZY9	TRI31_HUMAN	K	421	ENSP00000365924:E421K;ENSP00000444311:E421K	ENSP00000365918:E421K	E	-	1	0	TRIM31	30179309	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.968000	0.29357	0.371000	0.24564	0.573000	0.79308	GAG	C|0.710;T|0.290	0.290	strong		0.582	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			T	30071330	C	T	30071330	3	4	22	1	0	0	0	0	1	0	0	0	16502	835	29	2	20	2	TRIM31	6	30071330	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27844	30071330	141043737	3531	8639										
TRIM31	11074	hgsc.bcm.edu	37	chr6	30071357	30071357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagcccggatcgctgtcaGccactcactcagtgccgcat	9	17	3	0	rs17194258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30071357G>A	ENST00000376734.3	-	9	1359	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.L412L|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	412					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						ATCGCTGTCAGCCACTCACTC	0.547													G|||	78	0.0155751	0.0371	0.0173	5008	,	,		18691	0.002		0.006	False		,,,				2504	0.0092				p.L412L		Atlas-SNP	.											TRIM31,right_upper_lobe,carcinoma,+2,1	TRIM31	40	1	0			c.C1234T						PASS	.	G		96,2922		2,92,1415	132	141	138		1234	0.6	0	6	dbSNP_123	138	45,5373		0,45,2664	no	coding-synonymous	TRIM31	NM_007028.3		2,137,4079	AA,AG,GG		0.8306,3.1809,1.6714		412/426	30071357	141,8295	1509	2709	4218	SO:0001819	synonymous_variant	11074	exon9			CTGTCAGCCACTC	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1234C>T	6.37:g.30071357G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_007028	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	ENST00000376734.3	37	CCDS34374.1																																																																																			G|0.980;A|0.020	0.020	strong		0.547	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			A	30071357	G	A	30071357	2	1	22	1	0	0	0	0	0	0	0	1	16502	962	34	2		2	TRIM31	6	30071357	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	30071357	141043710	3532	8640										
TRIM31	11074	hgsc.bcm.edu	37	chr6	30080274	30080274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcatcctcgcagaaataGtggaacatctcctggtgcct	8	13	2	1	rs2517598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30080274G>A	ENST00000376734.3	-	2	434	c.309C>T	c.(307-309)caC>caT	p.H103H	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.H103H|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	103					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CGCAGAAATAGTGGAACATCT	0.493													A|||	606	0.121006	0.093	0.1297	5008	,	,		21287	0.0873		0.1252	False		,,,				2504	0.183				p.H103H		Atlas-SNP	.											.	TRIM31	40	.	0			c.C309T						PASS	.	A		306,2716		16,274,1221	138	122	127		309	-3.8	0	6	dbSNP_100	127	785,4633		51,683,1975	no	coding-synonymous	TRIM31	NM_007028.3		67,957,3196	AA,AG,GG		14.4887,10.1257,12.9265		103/426	30080274	1091,7349	1511	2709	4220	SO:0001819	synonymous_variant	11074	exon2			GAAATAGTGGAAC	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.309C>T	6.37:g.30080274G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	135	59	0.437037	NM_007028	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	ENST00000376734.3	37	CCDS34374.1																																																																																			G|0.878;A|0.122	0.122	strong		0.493	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			A	30080274	G	A	30080274	2	1	22	1	0	0	0	0	0	0	0	1	16502	1020	36	2		2	TRIM31	6	30080274	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8917	30080274	141034793	3533	8641										
TRIM15	89870	hgsc.bcm.edu	37	chr6	30131515	30131515	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgcctgcctgtaccctCtgtgcggggccgctggagga	16	13	1	0	rs2523733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30131515C>A	ENST00000376694.4	+	1	523	c.54C>A	c.(52-54)ctC>ctA	p.L18L	TRIM15_ENST00000376688.1_Silent_p.L18L|TRIM10_ENST00000449742.2_5'Flank|TRIM10_ENST00000376704.3_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	18					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCTGTACCCTCTGTGCGGGGC	0.687													C|||	912	0.182109	0.2655	0.1354	5008	,	,		17556	0.0952		0.1272	False		,,,				2504	0.2485				p.L18L		Atlas-SNP	.											.	TRIM15	34	.	0			c.C54A						PASS	.	C		690,2332		82,526,903	51	45	47		54	-0.3	0	6	dbSNP_100	47	720,4696		45,630,2033	no	coding-synonymous	TRIM15	NM_033229.2		127,1156,2936	AA,AC,CC		13.2939,22.8326,16.7101		18/466	30131515	1410,7028	1511	2708	4219	SO:0001819	synonymous_variant	89870	exon1			TACCCTCTGTGCG	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.54C>A	6.37:g.30131515C>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_033229	A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	CCDS4677.1																																																																																			C|0.820;A|0.180	0.180	strong		0.687	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		A	30131515	C	A	30131515	2	1	22	1	0	0	0	0	0	0	0	1	16487	900	32	4		4	TRIM15	6	30131515	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51241	30131515	140983552	3534	8642										
TRIM15	89870	hgsc.bcm.edu	37	chr6	30139971	30139971	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcgagatcccgcgcggcGtgagagtcgccctggactac	15	13	0	3	rs115649931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30139971G>C	ENST00000376694.4	+	7	1712	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCGCGCGGCGTGAGAGTCGC	0.682													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		12909	0.0		0.0	False		,,,				2504	0.0				p.V415L		Atlas-SNP	.											.	TRIM15	34	.	0			c.G1243C						PASS	.	G	LEU/VAL	53,2929		0,53,1438	16	13	14		1243	3.7	0	6	dbSNP_133	14	0,5354		0,0,2677	yes	missense	TRIM15	NM_033229.2	32	0,53,4115	CC,CG,GG		0.0,1.7773,0.6358	probably-damaging	415/466	30139971	53,8283	1491	2677	4168	SO:0001583	missense	89870	exon7			CGCGGCGTGAGAG	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1243G>C	6.37:g.30139971G>C	ENSP00000365884:p.Val415Leu	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	57	32	0.561404	NM_033229	A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859376	0.32884	0.017773	0.0	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.74002	-0.8	4.54	3.67	0.42095	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	0.39759	U	0.001266	T	0.51126	0.1656	L	0.58669	1.825	0.48087	D	0.999587	B	0.33448	0.412	B	0.32393	0.145	T	0.54702	-0.8254	10	0.45353	T	0.12	.	5.7541	0.18162	0.1022:0.0:0.7065:0.1913	.	415	Q9C019	TRI15_HUMAN	L	346;415	ENSP00000365884:V415L	ENSP00000365884:V415L	V	+	1	0	TRIM15	30247950	0.042000	0.20092	0.011000	0.14972	0.017000	0.09413	0.313000	0.19415	0.886000	0.36113	0.478000	0.44815	GTG	G|0.990;C|0.010	0.010	strong		0.682	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		C	30139971	G	C	30139971	3	2	22	1	0	0	0	0	1	0	0	0	16487	1145	40	4	1269	4	TRIM15	6	30139971	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8456	30139971	140975096	3535	8643										
TRIM26	7726	hgsc.bcm.edu	37	chr6	30166266	30166266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgaattttgtctctgtcCctccttagggtactcaggtg	9	12	2	1	rs2523721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30166266C>T	ENST00000454678.2	-	5	910	c.474G>A	c.(472-474)agG>agA	p.R158R	TRIM26_ENST00000437089.1_Silent_p.R158R|TRIM26_ENST00000453195.1_Silent_p.R158R|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	158					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						TGTCTCTGTCCCTCCTTAGGG	0.562													T|||	1153	0.230232	0.4017	0.1585	5008	,	,		20227	0.1081		0.1829	False		,,,				2504	0.2239				p.R158R		Atlas-SNP	.											.	TRIM26	74	.	0			c.G474A						PASS	.	T	,	1011,2011		166,679,666	133	141	138		474,474	2.2	1	6	dbSNP_100	138	1083,4335		116,851,1742	yes	coding-synonymous,coding-synonymous	TRIM26	NM_001242783.1,NM_003449.4	,	282,1530,2408	TT,TC,CC		19.9889,33.4547,24.8104	,	158/540,158/540	30166266	2094,6346	1511	2709	4220	SO:0001819	synonymous_variant	7726	exon4			TCTGTCCCTCCTT	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.474G>A	6.37:g.30166266C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	104	55	0.528846	NM_001242783	A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	CCDS4678.1																																																																																			C|0.765;T|0.235	0.235	strong		0.562	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		T	30166266	C	T	30166266	2	4	22	1	0	0	0	0	0	0	0	1	16497	622	22	2		2	TRIM26	6	30166266	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26295	30166266	140948801	3536	8644										
TRIM39	56658	hgsc.bcm.edu	37	chr6	30297529	30297529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgttgtgccactggacgaTgctacacaggagtacaaggt	12	10	0	0	rs2057727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30297529T>C	ENST00000396547.1	+	2	595	c.435T>C	c.(433-435)gaT>gaC	p.D145D	HCG18_ENST00000426882.1_RNA|TRIM39-RPP21_ENST00000513556.1_Silent_p.D57D|TRIM39_ENST00000376659.5_Silent_p.D145D|TRIM39_ENST00000376656.4_Silent_p.D145D|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000396551.3_Silent_p.D145D|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396548.1_Silent_p.D145D|TRIM39_ENST00000540416.1_Silent_p.D145D			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	145					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CACTGGACGATGCTACACAGG	0.537													C|||	1907	0.380791	0.3222	0.4539	5008	,	,		20492	0.506		0.2525	False		,,,				2504	0.411				p.D145D		Atlas-SNP	.											.	TRIM39	56	.	0			c.T435C						PASS	.	C	,,	879,2137		122,635,751	60	64	63		435,435,435	-1.6	0.6	6	dbSNP_94	63	1357,4057		165,1027,1515	yes	coding-synonymous,coding-synonymous,coding-synonymous	TRIM39,TRIM39-RPP21	NM_001199119.1,NM_021253.3,NM_172016.2	,,	287,1662,2266	CC,CT,TT		25.0646,29.1446,26.5243	,,	145/504,145/519,145/489	30297529	2236,6194	1508	2707	4215	SO:0001819	synonymous_variant	56658	exon3			GGACGATGCTACA	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.435T>C	6.37:g.30297529T>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	137	65	0.474453	NM_172016	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	CCDS34377.1	746	0.3415750915750916	156	0.3170731707317073	147	0.40607734806629836	270	0.47202797202797203	173	0.22823218997361477	C	9.049	0.991596	0.18966	0.291446	0.250646	ENSG00000204599	ENST00000420746	.	.	.	5.35	-1.57	0.08506	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	P	0.9999999999999996	.	.	.	.	.	.	T	0.18241	-1.0343	3	.	.	.	.	6.5398	0.22375	0.118:0.3956:0.0:0.4864	rs2057727;rs6939906;rs17194831;rs17850232;rs61139874;rs2057727	.	.	.	T	75	.	.	M	+	2	0	TRIM39	30405508	0.037000	0.19845	0.565000	0.28409	0.944000	0.59088	-1.096000	0.03353	-0.658000	0.05366	-0.227000	0.12334	ATG	T|0.696;C|0.304	0.304	strong		0.537	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		C	30297529	T	C	30297529	2	2	22	1	0	0	0	0	0	0	0	1	16510	1461	51	2		2	TRIM39	6	30297529	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	131263	30297529	140817538	3537	8645										
TRIM39	56658	hgsc.bcm.edu	37	chr6	30309508	30309508	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggatgtgaccctggacccTgagacagctcatcctaacct	10	14	1	2	rs2074474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30309508T>C	ENST00000396547.1	+	8	1189	c.1029T>C	c.(1027-1029)ccT>ccC	p.P343P	TRIM39-RPP21_ENST00000513556.1_Silent_p.P225P|TRIM39_ENST00000376659.5_Silent_p.P313P|TRIM39_ENST00000376656.4_Silent_p.P343P|TRIM39_ENST00000396551.3_Silent_p.P313P|TRIM39_ENST00000396548.1_Silent_p.P313P|TRIM39_ENST00000540416.1_Silent_p.P313P			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCCTGGACCCTGAGACAGCTC	0.562													T|||	1887	0.376797	0.3109	0.451	5008	,	,		20955	0.5119		0.2435	False		,,,				2504	0.411				p.P343P		Atlas-SNP	.											TRIM39_ENST00000376656,NS,malignant_melanoma,+2,1	TRIM39	56	1	0			c.T1029C						PASS	.	T	,,	852,2170		114,624,773	59	44	49		939,1029,939	-7.9	1	6	dbSNP_96	49	1327,4089		157,1013,1538	yes	coding-synonymous,coding-synonymous,coding-synonymous	TRIM39,TRIM39-RPP21	NM_001199119.1,NM_021253.3,NM_172016.2	,,	271,1637,2311	CC,CT,TT		24.5015,28.1932,25.8237	,,	313/504,343/519,313/489	30309508	2179,6259	1511	2708	4219	SO:0001819	synonymous_variant	56658	exon9			GGACCCTGAGACA	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1029T>C	6.37:g.30309508T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_021253	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	CCDS34377.1																																																																																			T|0.701;C|0.299	0.299	strong		0.562	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		C	30309508	T	C	30309508	2	2	22	1	0	0	0	0	0	0	0	1	16510	1567	55	3		3	TRIM39	6	30309508	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11979	30309508	140805559	3538	8646										
RPP21	79897	hgsc.bcm.edu	37	chr6	30314566	30314566	+	Silent	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaggagaaaatgcagacTcagggttccagtaaccagtg					rs35287137|rs1060065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30314566T>G	ENST00000442966.2	+	5	457	c.444T>G	c.(442-444)acT>acG	p.T148T	TRIM39-RPP21_ENST00000513556.1_Silent_p.T409T|RPP21_ENST00000428040.2_Silent_p.T171T|RPP21_ENST00000436442.2_3'UTR|RPP21_ENST00000433076.2_Silent_p.T156T			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	148					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AAATGCAGACTCAGGGTTCCA	0.433													T|||	1866	0.372604	0.3018	0.4496	5008	,	,		21469	0.505		0.2435	False		,,,				2504	0.41				p.T497T		Atlas-SNP	.											.	.	.	.	0			c.T1491G						PASS	.	T	,,,	841,2181		114,613,784	161	165	164		1491,468,,444	-0.3	0	6	dbSNP_86	164	1311,4107		159,993,1557	no	coding-synonymous,coding-synonymous,utr-3,coding-synonymous	RPP21,TRIM39-RPP21	NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2	,,,	273,1606,2341	GG,GT,TT		24.1971,27.8293,25.4976	,,,	497/504,156/163,,148/155	30314566	2152,6288	1511	2709	4220	SO:0001819	synonymous_variant	202658	exon10			GCAGACTCAGGGT	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.444T>G	6.37:g.30314566T>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	153	76	0.496732	NM_001199119	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	CCDS4679.1																																																																																			.	.	alt		0.433	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		G	30314566	T	G	30314566	2	3	22	1	0	0	0	0	0	0	0	1	13610	1538	54	5		5	RPP21	6	30314566	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5058	30314566	140800501	3539	8647	164	2								
RPP21	79897	hgsc.bcm.edu	37	chr6	30314567	30314567	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggagaaaatgcagactCagggttccagtaaccagtga					rs974963|rs35287137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30314567C>A	ENST00000442966.2	+	5	458	c.445C>A	c.(445-447)Cag>Aag	p.Q149K	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q410K|RPP21_ENST00000428040.2_Missense_Mutation_p.Q172K|RPP21_ENST00000436442.2_3'UTR|RPP21_ENST00000433076.2_Missense_Mutation_p.Q157K			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	149			Q -> K (in dbSNP:rs974963). {ECO:0000269|PubMed:14574404}.		response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AATGCAGACTCAGGGTTCCAG	0.428													C|||	1866	0.372604	0.3018	0.4496	5008	,	,		21475	0.505		0.2435	False		,,,				2504	0.41				p.Q498K		Atlas-SNP	.											RPP21,NS,carcinoma,-1,1	.	.	1	0			c.C1492A						PASS	.	C	LYS/GLN,LYS/GLN,,LYS/GLN	839,2183		114,611,786	159	163	162		1492,469,,445	3.1	0	6	dbSNP_86	162	1309,4109		159,991,1559	yes	missense,missense,utr-3,missense	RPP21,TRIM39-RPP21	NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2	53,53,,53	273,1602,2345	AA,AC,CC		24.1602,27.7631,25.4502	,,,	498/504,157/163,,149/155	30314567	2148,6292	1511	2709	4220	SO:0001583	missense	202658	exon10			CAGACTCAGGGTT	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.445C>A	6.37:g.30314567C>A	ENSP00000403833:p.Gln149Lys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	152	75	0.493421	NM_001199119	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	CCDS4679.1	689	0.31547619047619047	141	0.2865853658536585	133	0.3674033149171271	256	0.44755244755244755	159	0.20976253298153033	C	9.914	1.210278	0.22289	0.277631	0.241602	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040	T;T;T;T	0.42131	0.98;1.52;1.52;1.52	4.94	3.1	0.35709	.	0.447252	0.19787	N	0.106087	T	0.14098	0.0341	N	0.19112	0.55	0.58432	P	1.0000000000287557E-6	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.11329	0.006;0.004;0.0	T	0.06570	-1.0819	9	0.87932	D	0	-0.2296	11.6618	0.51352	0.0:0.6551:0.3449:0.0	rs974963;rs1060066;rs3173395;rs974963	412;149;172	F5H2V3;Q9H633;Q9H633-2	.;RPP21_HUMAN;.	K	412;410;157;149;172	ENSP00000424048:Q410K;ENSP00000409799:Q157K;ENSP00000403833:Q149K;ENSP00000394320:Q172K	ENSP00000394320:Q172K	Q	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30422546	0.197000	0.23362	0.001000	0.08648	0.006000	0.05464	1.778000	0.38614	0.743000	0.32719	0.655000	0.94253	CAG	C|0.718;A|0.282	0.282	strong		0.428	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		A	30314567	C	A	30314567	3	1	22	1	0	0	0	0	1	0	0	0	13610	827	29	4	463	4	RPP21	6	30314567	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	30314567	140800500	3540	8648	164	2								
HLA-E	3133	hgsc.bcm.edu	37	chr6	30458933	30458933	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccccaaagacacacgtGactcaccaccccatctctga	6	18	2	3	rs11548296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30458933G>C	ENST00000376630.4	+	4	695	c.630G>C	c.(628-630)gtG>gtC	p.V210V		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	210	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGACACACGTGACTCACCACC	0.582													G|||	138	0.0275559	0.0847	0.0159	5008	,	,		19155	0.001		0.0099	False		,,,				2504	0.0041				p.V210V		Atlas-SNP	.											.	HLA-E	35	.	0			c.G630C						PASS	.	G		194,2828		6,182,1323	126	146	139		630	0.6	0.7	6	dbSNP_120	139	58,5360		0,58,2651	no	coding-synonymous	HLA-E	NM_005516.5		6,240,3974	CC,CG,GG		1.0705,6.4196,2.9858		210/359	30458933	252,8188	1511	2709	4220	SO:0001819	synonymous_variant	3133	exon4			ACACGTGACTCAC	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.630G>C	6.37:g.30458933G>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	236	122	0.516949	NM_005516	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	CCDS34379.1																																																																																			G|0.977;C|0.023	0.023	strong		0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		C	30458933	G	C	30458933	2	2	22	1	0	0	0	0	0	0	0	1	7210	1277	45	4		4	HLA-E	6	30458933	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	144366	30458933	140656134	3541	8649										
PRR3	80742	hgsc.bcm.edu	37	chr6	30529622	30529622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctccagctcttcacagaGgtcctccaggatcaagggga	10	13	4	1	rs3888778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30529622G>A	ENST00000376560.3	+	3	640	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	PRR3_ENST00000376557.3_Missense_Mutation_p.G40S|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	61	Pro-rich.		G -> S (in dbSNP:rs3888778). {ECO:0000269|PubMed:15489334}.				metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TCTTCACAGAGGTCCTCCAGG	0.507													G|||	166	0.033147	0.0862	0.0259	5008	,	,		17768	0.0208		0.0109	False		,,,				2504	0.002				p.G61S		Atlas-SNP	.											.	PRR3	5	.	0			c.G181A						PASS	.	G	SER/GLY,SER/GLY	137,2249		3,131,1059	9	9	9		118,181	3.9	1	6	dbSNP_108	9	47,4983		0,47,2468	yes	missense,missense	PRR3	NM_001077497.2,NM_025263.3	56,56	3,178,3527	AA,AG,GG		0.9344,5.7418,2.4811	possibly-damaging,possibly-damaging	40/168,61/189	30529622	184,7232	1193	2515	3708	SO:0001583	missense	80742	exon3			CACAGAGGTCCTC	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.181G>A	6.37:g.30529622G>A	ENSP00000365744:p.Gly61Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_025263	A1A4H4|Q5RJB5|Q5STN6	Missense_Mutation	SNP	ENST00000376560.3	37	CCDS43440.1	75	0.034340659340659344	41	0.08333333333333333	10	0.027624309392265192	17	0.02972027972027972	7	0.009234828496042216	G	18.14	3.558222	0.65538	0.057418	0.009344	ENSG00000204576	ENST00000376560;ENST00000376555;ENST00000376557	T;T	0.61392	0.79;0.11	4.8	3.93	0.45458	.	0.000000	0.44097	D	0.000490	T	0.28665	0.0710	N	0.14661	0.345	0.35071	D	0.762444	D;P	0.55385	0.971;0.952	P;B	0.46585	0.521;0.322	T	0.33471	-0.9867	10	0.87932	D	0	-4.6812	8.9334	0.35684	0.1014:0.0:0.8986:0.0	rs3888778;rs4559118;rs3888778	40;61	P79522-2;P79522	.;PRR3_HUMAN	S	61;126;40	ENSP00000365744:G61S;ENSP00000365740:G40S	ENSP00000365738:G126S	G	+	1	0	PRR3	30637601	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.111000	0.57838	1.243000	0.43853	0.655000	0.94253	GGT	G|0.963;A|0.037	0.037	strong		0.507	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		A	30529622	G	A	30529622	3	1	22	1	0	0	0	0	1	0	0	0	12598	1000	35	2	191	2	PRR3	6	30529622	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70689	30529622	140585445	3542	8650										
PRR3	80742	hgsc.bcm.edu	37	chr6	30529816	30529816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggggaagctttcacaaGgaacagagaaaccctcgaag	11	10	1	1	rs3888777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30529816G>A	ENST00000376560.3	+	3	834	c.375G>A	c.(373-375)aaG>aaA	p.K125K	PRR3_ENST00000376557.3_Silent_p.K104K|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	125							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GCTTTCACAAGGAACAGAGAA	0.557													.|||	355	0.0708866	0.149	0.0288	5008	,	,		16653	0.0804		0.0139	False		,,,				2504	0.044				p.K125K		Atlas-SNP	.											.	PRR3	5	.	0			c.G375A						PASS	.	A	,	249,2083		16,217,933	72	76	75		312,375	2.5	1	6	dbSNP_108	75	73,4919		0,73,2423	no	coding-synonymous,coding-synonymous	PRR3	NM_001077497.2,NM_025263.3	,	16,290,3356	AA,AG,GG		1.4623,10.6775,4.3965	,	104/168,125/189	30529816	322,7002	1166	2496	3662	SO:0001819	synonymous_variant	80742	exon3			TCACAAGGAACAG	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.375G>A	6.37:g.30529816G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_025263	A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	37	CCDS43440.1																																																																																			G|0.952;A|0.048	0.048	strong		0.557	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		A	30529816	G	A	30529816	2	1	22	1	0	0	0	0	0	0	0	1	12598	991	35	2		2	PRR3	6	30529816	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	194	30529816	140585251	3543	8651										
PPP1R10	5514	hgsc.bcm.edu	37	chr6	30570374	30570374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccaccccgcatagggtcGcccgggccatcccagaaggg	15	16	0	1	rs35689098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30570374G>A	ENST00000376511.2	-	19	2604	c.2052C>T	c.(2050-2052)ggC>ggT	p.G684G		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	684	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCATAGGGTCGCCCGGGCCAT	0.677													G|||	138	0.0275559	0.0915	0.0159	5008	,	,		15303	0.001		0.001	False		,,,				2504	0.0041				p.G684G		Atlas-SNP	.											.	PPP1R10	60	.	0			c.C2052T						PASS	.	G		164,2534		1,162,1186	7	10	9		2052	-0.1	0.9	6	dbSNP_126	9	11,5013		0,11,2501	no	coding-synonymous	PPP1R10	NM_002714.2		1,173,3687	AA,AG,GG		0.2189,6.0786,2.2663		684/941	30570374	175,7547	1349	2512	3861	SO:0001819	synonymous_variant	5514	exon19			AGGGTCGCCCGGG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2052C>T	6.37:g.30570374G>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	26	13	0.5	NM_002714	O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																			G|0.970;A|0.030	0.030	strong		0.677	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		A	30570374	G	A	30570374	2	1	22	1	0	0	0	0	0	0	0	1	12352	1074	38	1		1	PPP1R10	6	30570374	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40558	30570374	140544693	3544	8652										
C6orf134	28973	hgsc.bcm.edu	37	chr6	30596135	30596135	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggaaccgcaccaactggcAattgaccgaccctcacagaa	9	14	1	2	rs6904236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30596135A>G	ENST00000259873.4	+	0	1532				ATAT1_ENST00000376483.4_Silent_p.A155A|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000329992.8_Silent_p.A155A|ATAT1_ENST00000318999.7_Silent_p.A155A|ATAT1_ENST00000376485.4_Silent_p.A155A|ATAT1_ENST00000376478.2_Silent_p.A155A|ATAT1_ENST00000319027.5_Silent_p.A155A|ATAT1_ENST00000330083.5_Silent_p.A143A	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						ACCAACTGGCAATTGACCGAC	0.517													G|||	231	0.0461262	0.1157	0.0346	5008	,	,		17429	0.0258		0.0199	False		,,,				2504	0.0082				p.A155A		Atlas-SNP	.											.	ATAT1	30	.	0			c.A465G						PASS	.	G	,,	308,2714		15,278,1218	91	83	86		429,429,465	1.9	1	6	dbSNP_116	86	111,5307		1,109,2599	yes	coding-synonymous,coding-synonymous,coding-synonymous	ATAT1	NM_001031722.2,NM_001190724.1,NM_024909.2	,,	16,387,3817	GG,GA,AA		2.0487,10.1919,4.9645	,,	143/410,143/289,155/334	30596135	419,8021	1511	2709	4220	SO:0001628	intergenic_variant	79969	exon6			ACTGGCAATTGAC	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30596135A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	155	72	0.464516	NM_001254952	A6NDQ0|Q659G4|Q9BS27	Silent	SNP	ENST00000259873.4	37	CCDS4682.1																																																																																			A|0.957;G|0.043	0.043	strong		0.517	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			G	30596135	A	G	30596135	1	3	22	0	1	0	0	0	0	0	0	0	2330	117	5	2		2	C6orf134	6	30596135	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25761	30596135	140518932	3545	8653										
C6orf134	79969	hgsc.bcm.edu	37	chr6	30610758	30610758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgttggctgctgaccctgGgggcagcccagctcaacgtc	13	14	2	1	rs150614928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30610758G>T	ENST00000376485.4	+	10	968	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ATAT1_ENST00000376483.4_Missense_Mutation_p.G313V|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000329992.8_Missense_Mutation_p.G313V|ATAT1_ENST00000318999.7_Missense_Mutation_p.G290V|ATAT1_ENST00000376478.2_Missense_Mutation_p.G290V|ATAT1_ENST00000319027.5_Missense_Mutation_p.G290V|ATAT1_ENST00000330083.5_Missense_Mutation_p.G301V					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCTGACCCTGGGGGCAGCCCA	0.602													G|||	72	0.014377	0.028	0.0144	5008	,	,		11232	0.003		0.008	False		,,,				2504	0.0143				p.G313V		Atlas-SNP	.											.	ATAT1	30	.	0			c.G938T						PASS	.	G	VAL/GLY,VAL/GLY,VAL/GLY	112,4294		0,112,2091	82	79	80		902,833,938	5.2	1	6	dbSNP_134	80	58,8542		2,54,4244	yes	missense,missense,missense	ATAT1	NM_001031722.2,NM_001190724.1,NM_024909.2	109,109,109	2,166,6335	TT,TG,GG		0.6744,2.542,1.3071	probably-damaging,probably-damaging,probably-damaging	301/410,278/289,313/334	30610758	170,12836	2203	4300	6503	SO:0001583	missense	79969	exon10			ACCCTGGGGGCAG	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.938G>T	6.37:g.30610758G>T	ENSP00000365668:p.Gly313Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	129	74	0.573643	NM_024909		Missense_Mutation	SNP	ENST00000376485.4	37		25	0.011446886446886446	17	0.034552845528455285	4	0.011049723756906077	2	0.0034965034965034965	2	0.002638522427440633	G	17.04	3.287865	0.59976	0.02542	0.006744	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	.	.	.	5.16	5.16	0.70880	.	0.099255	0.43919	D	0.000512	T	0.45657	0.1353	L	0.54323	1.7	0.54753	D	0.999987	P;B;B;B;P;P	0.48640	0.913;0.409;0.208;0.156;0.719;0.719	B;B;B;B;B;B	0.44085	0.424;0.312;0.276;0.146;0.319;0.44	T	0.41574	-0.9501	9	0.32370	T	0.25	-15.2948	15.929	0.79646	0.0:0.0:1.0:0.0	.	278;290;301;313;290;313	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	V	290;313;290;290;313;313;301	.	ENSP00000324222:G290V	G	+	2	0	ATAT1	30718737	0.999000	0.42202	1.000000	0.80357	0.949000	0.60115	3.481000	0.53179	2.565000	0.86533	0.609000	0.83330	GGG	G|0.988;T|0.012	0.012	strong		0.602	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		T	30610758	G	T	30610758	3	4	22	1	0	0	0	0	1	0	0	0	2330	1232	43	4	976	4	C6orf134	6	30610758	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14623	30610758	140504309	3546	8654										
MDC1	9656	hgsc.bcm.edu	37	chr6	30668374	30668374	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggaatggagcaatgaggGaagtcctgagggcatgtgat	17	4	0	3	rs9468812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30668374G>A	ENST00000376406.3	-	15	6785	c.6138C>T	c.(6136-6138)ttC>ttT	p.F2046F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.F1782F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2046	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGCAATGAGGGAAGTCCTGAG	0.542								Other conserved DNA damage response genes					G|||	234	0.0467252	0.1278	0.0432	5008	,	,		16633	0.0208		0.0129	False		,,,				2504	0.001				p.F2046F		Atlas-SNP	.											.	MDC1	218	.	0			c.C6138T						PASS	.	G		320,2702		21,278,1212	114	107	109		6138	-4.1	0	6	dbSNP_119	109	63,5355		0,63,2646	no	coding-synonymous	MDC1	NM_014641.2		21,341,3858	AA,AG,GG		1.1628,10.589,4.5379		2046/2090	30668374	383,8057	1511	2709	4220	SO:0001819	synonymous_variant	9656	exon15			ATGAGGGAAGTCC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.6138C>T	6.37:g.30668374G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																			G|0.958;A|0.042	0.042	strong		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30668374	G	A	30668374	2	1	22	1	0	0	0	0	0	0	0	1	9403	1165	41	2		2	MDC1	6	30668374	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57616	30668374	140446693	3547	8655										
MDC1	9656	hgsc.bcm.edu	37	chr6	30672342	30672342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttggtctgtggaggtggAaggctggagctcaggggctg	21	5	2	0	rs3130645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30672342A>G	ENST00000376406.3	-	10	5265	c.4618T>C	c.(4618-4620)Tcc>Ccc	p.S1540P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1276P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1540	Interaction with the PRKDC complex.		S -> P (in dbSNP:rs3130645). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:8724849, ECO:0000269|Ref.3}.		DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GTGGAGGTGGAAGGCTGGAGC	0.577								Other conserved DNA damage response genes					A|||	657	0.13119	0.3056	0.134	5008	,	,		21158	0.0635		0.0596	False		,,,				2504	0.0368				p.S1540P		Atlas-SNP	.											.	MDC1	218	.	0			c.T4618C						PASS	.	A	PRO/SER	1223,3183	409.3+/-334.9	174,875,1154	119	139	132		4618	-8.4	0	6	dbSNP_103	132	519,8081	141.9+/-198.1	21,477,3802	no	missense	MDC1	NM_014641.2	74	195,1352,4956	GG,GA,AA		6.0349,27.7576,13.3938	probably-damaging	1540/2090	30672342	1742,11264	2203	4300	6503	SO:0001583	missense	9656	exon10			AGGTGGAAGGCTG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4618T>C	6.37:g.30672342A>G	ENSP00000365588:p.Ser1540Pro	Somatic	392	1	0.00255102		WXS	Illumina HiSeq	Phase_I	416	201	0.483173	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	269	0.12316849816849818	136	0.2764227642276423	52	0.143646408839779	43	0.07517482517482517	38	0.05013192612137203	A	10.58	1.389410	0.25118	0.277576	0.060349	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11169	2.8;2.8	4.26	-8.4	0.00965	.	.	.	.	.	T	0.02455	0.0075	M	0.68593	2.085	0.80722	P	0.0	B;B	0.17852	0.024;0.002	B;B	0.18561	0.022;0.001	T	0.39603	-0.9606	8	0.30078	T	0.28	.	2.3277	0.04227	0.2323:0.1232:0.4035:0.241	rs3130645;rs13219132;rs52796082;rs61323254;rs3130645	1276;1540	Q14676-2;Q14676	.;MDC1_HUMAN	P	1540;1276;1253;1106	ENSP00000365588:S1540P;ENSP00000365587:S1276P	ENSP00000365587:S1276P	S	-	1	0	MDC1	30780321	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.052000	0.00305	-1.785000	0.01271	-1.251000	0.01509	TCC	A|0.872;G|0.128	0.128	strong		0.577	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		G	30672342	A	G	30672342	3	3	22	1	0	0	0	0	1	0	0	0	9403	246	9	2	1675	2	MDC1	6	30672342	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3968	30672342	140442725	3548	8656										
MDC1	9656	hgsc.bcm.edu	37	chr6	30673013	30673013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggtcttgacagaggacAtatttgtcctgctcctagtg	12	9	1	2	rs61733213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30673013A>G	ENST00000376406.3	-	10	4594	c.3947T>C	c.(3946-3948)aTg>aCg	p.M1316T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.M1052T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1316	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGACATATTTGTCCT	0.597								Other conserved DNA damage response genes					a|||	234	0.0467252	0.1278	0.0432	5008	,	,		19113	0.0208		0.0129	False		,,,				2504	0.001				p.M1316T		Atlas-SNP	.											.	MDC1	218	.	0			c.T3947C						PASS	.	C	THR/MET	480,3926	224.9+/-240.9	34,412,1757	141	152	148		3947	-1.8	0	6	dbSNP_129	148	95,8505	52.3+/-112.8	1,93,4206	no	missense	MDC1	NM_014641.2	81	35,505,5963	GG,GA,AA		1.1047,10.8942,4.421	benign	1316/2090	30673013	575,12431	2203	4300	6503	SO:0001583	missense	9656	exon10			GAGGACATATTTG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3947T>C	6.37:g.30673013A>G	ENSP00000365588:p.Met1316Thr	Somatic	322	1	0.00310559		WXS	Illumina HiSeq	Phase_I	363	186	0.512397	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	100	0.045787545787545784	59	0.11991869918699187	16	0.04419889502762431	17	0.02972027972027972	8	0.010554089709762533	a	2.633	-0.285988	0.05605	0.108942	0.011047	ENSG00000137337	ENST00000376406;ENST00000376405	T;T	0.05139	3.49;3.49	3.32	-1.81	0.07882	.	0.445015	0.16677	N	0.204131	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.004	T	0.42103	-0.9471	10	0.12103	T	0.63	.	3.1868	0.06603	0.299:0.311:0.0:0.3899	.	1052;1316	Q14676-2;Q14676	.;MDC1_HUMAN	T	1316;1052	ENSP00000365588:M1316T;ENSP00000365587:M1052T	ENSP00000365587:M1052T	M	-	2	0	MDC1	30780992	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.173000	0.03108	-0.789000	0.04498	-3.196000	0.00055	ATG	A|0.958;G|0.042	0.042	strong		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		G	30673013	A	G	30673013	3	3	22	1	0	0	0	0	1	0	0	0	9403	217	8	2	2346	2	MDC1	6	30673013	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	671	30673013	140442054	3549	8657										
MDC1	9656	hgsc.bcm.edu	37	chr6	30673489	30673489	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggggacaactggttcaggGgtcttgacagaggacctatt	15	7	2	2	rs9295905	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30673489G>C	ENST00000376406.3	-	10	4118	c.3471C>G	c.(3469-3471)acC>acG	p.T1157T	MDC1_ENST00000376405.2_Silent_p.T893T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1157	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTGGTTCAGGGGTCTTGACAG	0.602								Other conserved DNA damage response genes					G|||	316	0.063099	0.1324	0.0504	5008	,	,		18792	0.0635		0.0189	False		,,,				2504	0.0235				p.T1157T		Atlas-SNP	.											.	MDC1	218	.	0			c.C3471G						PASS	.	G		495,3911	232.3+/-245.9	36,423,1744	167	181	176		3471	-1.2	0	6	dbSNP_119	176	140,8460	69.0+/-131.5	2,136,4162	no	coding-synonymous	MDC1	NM_014641.2		38,559,5906	CC,CG,GG		1.6279,11.2347,4.8824		1157/2090	30673489	635,12371	2203	4300	6503	SO:0001819	synonymous_variant	9656	exon10			TTCAGGGGTCTTG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3471C>G	6.37:g.30673489G>C		Somatic	359	0	0		WXS	Illumina HiSeq	Phase_I	401	211	0.526185	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1	142	0.06501831501831502	63	0.12804878048780488	19	0.052486187845303865	49	0.08566433566433566	11	0.014511873350923483	G	6.445	0.450240	0.12223	0.112347	0.016279	ENSG00000137337	ENST00000417033	.	.	.	4.01	-1.23	0.09465	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.26155	-1.0111	3	.	.	.	-1.07	3.6257	0.08112	0.4055:0.0:0.4247:0.1698	rs9295905	.	.	.	A	218	.	.	P	-	1	0	MDC1	30781468	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-0.722000	0.04958	-0.385000	0.07833	0.478000	0.44815	CCC	G|0.944;C|0.056	0.056	strong		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30673489	G	C	30673489	2	2	22	1	0	0	0	0	0	0	0	1	9403	1219	43	4		4	MDC1	6	30673489	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	476	30673489	140441578	3550	8658										
MDC1	9656	hgsc.bcm.edu	37	chr6	30680562	30680562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccagagggacagcctgtGgggccttgccttcttccaca	11	14	2	1	rs28986465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30680562G>A	ENST00000376406.3	-	5	1804	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P386L|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	386	Required for nuclear localization (NLS1).		P -> L (in dbSNP:rs28986465). {ECO:0000269|PubMed:16702430}.		DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GACAGCCTGTGGGGCCTTGCC	0.552								Other conserved DNA damage response genes					G|||	317	0.0632987	0.1324	0.0504	5008	,	,		21523	0.0645		0.0189	False		,,,				2504	0.0235				p.P386L		Atlas-SNP	.											.	MDC1	218	.	0			c.C1157T						PASS	.	G	LEU/PRO	328,2692		22,284,1204	77	83	81		1157	2.2	0	6	dbSNP_125	81	92,5326		0,92,2617	yes	missense	MDC1	NM_014641.2	98	22,376,3821	AA,AG,GG		1.698,10.8609,4.9775	possibly-damaging	386/2090	30680562	420,8018	1510	2709	4219	SO:0001583	missense	9656	exon5			GCCTGTGGGGCCT	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1157C>T	6.37:g.30680562G>A	ENSP00000365588:p.Pro386Leu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	140	73	0.521429	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	142	0.06501831501831502	63	0.12804878048780488	19	0.052486187845303865	49	0.08566433566433566	11	0.014511873350923483	G	7.656	0.683988	0.14907	0.108609	0.01698	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03124	4.15;4.04	5.19	2.19	0.27852	.	0.728871	0.11291	N	0.579298	T	0.00815	0.0027	N	0.16478	0.41	0.80722	P	0.0	B;B;B;B	0.22683	0.073;0.073;0.011;0.009	B;B;B;B	0.25884	0.064;0.064;0.01;0.016	T	0.47711	-0.9096	9	0.40728	T	0.16	-0.0123	3.3808	0.07254	0.0936:0.1625:0.5568:0.1872	rs28986465;rs28986465	386;258;386;386	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	L	386;386;386;258	ENSP00000365588:P386L;ENSP00000365587:P386L	ENSP00000365587:P386L	P	-	2	0	MDC1	30788541	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.122000	0.15687	0.674000	0.31244	0.561000	0.74099	CCA	G|0.939;A|0.061	0.061	strong		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30680562	G	A	30680562	3	1	22	1	0	0	0	0	1	0	0	0	9403	1348	47	2	5156	2	MDC1	6	30680562	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7073	30680562	140434505	3551	8659										
MDC1	9656	hgsc.bcm.edu	37	chr6	30680608	30680608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcactaccagcctggctctCctgcagatgggccaggcctg	11	15	2	1	rs2075015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30680608C>T	ENST00000376406.3	-	5	1758	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E371K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	371	Required for nuclear localization (NLS1).		E -> K (in dbSNP:rs2075015). {ECO:0000269|PubMed:16702430}.		DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCCTGGCTCTCCTGCAGATGG	0.542								Other conserved DNA damage response genes					C|||	317	0.0632987	0.1324	0.0504	5008	,	,		21001	0.0645		0.0189	False		,,,				2504	0.0235				p.E371K		Atlas-SNP	.											.	MDC1	218	.	0			c.G1111A						PASS	.	C	LYS/GLU	325,2695		22,281,1207	87	98	94		1111	2.3	0.1	6	dbSNP_96	94	91,5325		0,91,2617	yes	missense	MDC1	NM_014641.2	56	22,372,3824	TT,TC,CC		1.6802,10.7616,4.9312	possibly-damaging	371/2090	30680608	416,8020	1510	2708	4218	SO:0001583	missense	9656	exon5			GGCTCTCCTGCAG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1111G>A	6.37:g.30680608C>T	ENSP00000365588:p.Glu371Lys	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	147	75	0.510204	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	142	0.06501831501831502	63	0.12804878048780488	19	0.052486187845303865	49	0.08566433566433566	11	0.014511873350923483	C	15.37	2.813758	0.50527	0.107616	0.016802	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03441	4.04;3.93	4.19	2.32	0.28847	.	0.419494	0.17581	N	0.169108	T	0.02533	0.0077	M	0.71581	2.175	0.47511	P	5.560000000000009E-4	P;P;P;B	0.43750	0.506;0.506;0.816;0.154	B;B;B;B	0.43809	0.319;0.203;0.432;0.048	T	0.35871	-0.9771	9	0.59425	D	0.04	-3.3359	6.0072	0.19553	0.0:0.7543:0.0:0.2457	rs2075015;rs2075015	371;243;371;371	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	K	371;371;371;243	ENSP00000365588:E371K;ENSP00000365587:E371K	ENSP00000365587:E371K	E	-	1	0	MDC1	30788587	0.002000	0.14202	0.094000	0.20943	0.767000	0.43475	0.631000	0.24568	0.675000	0.31264	0.561000	0.74099	GAG	C|0.939;T|0.061	0.061	strong		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		T	30680608	C	T	30680608	3	4	22	1	0	0	0	0	1	0	0	0	9403	864	30	2	5202	2	MDC1	6	30680608	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46	30680608	140434459	3552	8660										
FLOT1	203068	hgsc.bcm.edu	37	chr6	30695920	30695920	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctcaaaggcttgtgattCacctggcaaaaagacaacag	9	9	2	2	rs1136719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30695920C>T	ENST00000327892.8	+	0	2670				FLOT1_ENST00000456573.2_Silent_p.V371V|FLOT1_ENST00000376389.3_Silent_p.V419V	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I						cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCTTGTGATTCACCTGGCAAA	0.532													C|||	474	0.0946486	0.1641	0.0476	5008	,	,		19883	0.0774		0.0388	False		,,,				2504	0.1094				p.V419V		Atlas-SNP	.											.	FLOT1	28	.	0			c.G1257A						PASS	.	C		454,2568		34,386,1091	154	131	139		1257	0.9	1	6	dbSNP_86	139	202,5216		5,192,2512	no	coding-synonymous	FLOT1	NM_005803.2		39,578,3603	TT,TC,CC		3.7283,15.0232,7.7725		419/428	30695920	656,7784	1511	2709	4220	SO:0001628	intergenic_variant	10211	exon13			GTGATTCACCTGG	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059		6.37:g.30695920C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	73	32	0.438356	NM_005803	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																			T|0.057;G|0.183;C|0.746;A|0.014	0.057	strong		0.532	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		T	30695920	C	T	30695920	1	4	22	0	1	0	0	0	0	0	0	0	5936	813	29	2		2	FLOT1	6	30695920	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15312	30695920	140419147	3553	8661										
DPCR1	135656	hgsc.bcm.edu	37	chr6	30919878	30919878	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagcctacagaaaacctgGggaacaccacactgaccact	7	13	0	2	rs11970154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30919878G>C	ENST00000462446.1	+	2	3665	c.3637G>C	c.(3637-3639)Ggg>Cgg	p.G1213R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.G55R			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	337						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGAAAACCTGGGGAACACCAC	0.453													G|||	924	0.184505	0.4145	0.1614	5008	,	,		20677	0.0605		0.1491	False		,,,				2504	0.0542				p.G1213R		Atlas-SNP	.											.	DPCR1	99	.	0			c.G3637C						PASS	.	G	ARG/GLY	1532,2874	485.1+/-360.2	283,966,954	143	144	144		3637	-2.9	0	6	dbSNP_120	144	1045,7555	221.6+/-259.0	62,921,3317	yes	missense	DPCR1	NM_080870.3	125	345,1887,4271	CC,CG,GG		12.1512,34.7708,19.8139	possibly-damaging	1213/1394	30919878	2577,10429	2203	4300	6503	SO:0001583	missense	135656	exon2			AACCTGGGGAACA	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.3637G>C	6.37:g.30919878G>C	ENSP00000417182:p.Gly1213Arg	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_080870	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	385	0.1762820512820513	190	0.3861788617886179	54	0.14917127071823205	44	0.07692307692307693	97	0.1279683377308707	G	3.993	-0.003997	0.07773	0.347708	0.121512	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.21191	2.02;2.04	3.26	-2.87	0.05700	.	.	.	.	.	T	0.02807	0.0084	N	0.19112	0.55	0.80722	P	0.0	P	0.34615	0.459	B	0.31751	0.135	T	0.38329	-0.9666	8	0.20046	T	0.44	-0.0399	6.4088	0.21680	0.3898:0.1277:0.4825:0.0	rs11970154;rs52799830;rs61397826;rs11970154	1213	E9PEI6	.	R	1213;337;55	ENSP00000417182:G1213R;ENSP00000305948:G55R	ENSP00000305948:G55R	G	+	1	0	DPCR1	31027857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.144000	0.10280	-1.457000	0.01919	-1.183000	0.01708	GGG	G|0.816;C|0.184	0.184	strong		0.453	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		C	30919878	G	C	30919878	3	2	22	1	0	0	0	0	1	0	0	0	4712	1232	43	4	3643	4	DPCR1	6	30919878	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	223958	30919878	140195189	3554	8662										
MUC21	394263	hgsc.bcm.edu	37	chr6	30955043	30955043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcacagccaccaactctgGgtccagcacgacctccagtg	9	17	1	0	rs9262385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:30955043G>A	ENST00000376296.3	+	2	1332	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	364	28 X 15 AA approximate tandem repeats.|Ser-rich.			G -> E (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGGGTCCAGCACG	0.632													a|||	106	0.0211661	0.0197	0.0576	5008	,	,		18768	0.0079		0.0179	False		,,,				2504	0.0143				p.G364E		Atlas-SNP	.											MUC21,NS,neuroblastoma,0,1	MUC21	98	1	0			c.G1091A						scavenged	.	A	GLU/GLY	25,4361		2,21,2170	143	141	141		1091	-6.6	0	6	dbSNP_118	141	46,8528		4,38,4245	no	missense	MUC21	NM_001010909.2	98	6,59,6415	AA,AG,GG		0.5365,0.57,0.5478	benign	364/567	30955043	71,12889	2193	4287	6480	SO:0001583	missense	394263	exon2			ACTCTGGGTCCAG	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1091G>A	6.37:g.30955043G>A	ENSP00000365473:p.Gly364Glu	Somatic	152	4	0.0263158		WXS	Illumina HiSeq	Phase_I	185	10	0.0540541	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	0.072	-1.201075	0.01581	0.0057	0.005365	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02323	4.34	4.44	-6.61	0.01818	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.46830	-0.9163	9	0.02654	T	1	0.4928	3.9243	0.09257	0.1415:0.3445:0.3555:0.1585	rs9262385	364	Q5SSG8	MUC21_HUMAN	E	214;364	ENSP00000365473:G364E	ENSP00000365473:G364E	G	+	2	0	MUC21	31063022	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.474000	0.02337	-1.580000	0.01644	-2.305000	0.00258	GGG	G|0.992;A|0.008	0.008	strong		0.632	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30955043	G	A	30955043	3	1	22	1	0	0	0	0	1	0	0	0	9977	1232	43	2	1097	2	MUC21	6	30955043	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35165	30955043	140160024	3555	8663										
CDSN	170679	hgsc.bcm.edu	37	chr6	31084435	31084435	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtgaagtagcccacaggGtagattttacccttactgta	10	8	0	2	rs1062470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31084435G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.Y319Y|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						AGCCCACAGGGTAGATTTTAC	0.532													G|||	2259	0.451078	0.6172	0.4035	5008	,	,		18839	0.506		0.3519	False		,,,				2504	0.3057				p.Y319Y		Atlas-SNP	.											.	CDSN	48	.	0			c.C957T						PASS	.	G	,	2042,1972		548,946,513	36	34	35		957,	3.2	1	6	dbSNP_86	35	2465,5563		451,1563,2000	no	coding-synonymous,intron	CDSN,PSORS1C1	NM_001264.4,NM_014068.2	,	999,2509,2513	AA,AG,GG		30.705,49.1281,37.4273	,	319/530,	31084435	4507,7535	2007	4014	6021	SO:0001627	intron_variant	1041	exon2			CACAGGGTAGATT	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+1767G>A	6.37:g.31084435G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_001264	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	CCDS34390.1																																																																																			G|0.569;A|0.431	0.431	strong		0.532	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		A	31084435	G	A	31084435	1	1	22	0	1	0	0	0	0	0	0	0	3179	1256	44	2		2	CDSN	6	31084435	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129392	31084435	140030632	3556	8664										
CCHCR1	54535	hgsc.bcm.edu	37	chr6	31112737	31112737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgtgctctcctgctggcCctggcgtgctacctccagct	10	17	2	0	rs130079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31112737C>A	ENST00000376266.5	-	14	1845	c.1723G>T	c.(1723-1725)Ggc>Tgc	p.G575C	CCHCR1_ENST00000451521.2_Missense_Mutation_p.G628C|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G522C|CCHCR1_ENST00000396268.3_Missense_Mutation_p.G664C	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	575			G -> C (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130079). {ECO:0000269|PubMed:10545595, ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCCTGCTGGCCCTGGCGTGCT	0.652													C|||	710	0.141773	0.1649	0.1383	5008	,	,		17573	0.0377		0.2018	False		,,,				2504	0.1585				p.G664C		Atlas-SNP	.											.	CCHCR1	68	.	0			c.G1990T						PASS	.	C	CYS/GLY,CYS/GLY,CYS/GLY	835,3571	330.4+/-301.5	89,657,1457	59	58	59		1882,1990,1723	1.5	1	6	dbSNP_78	59	2031,6569	351.3+/-328.2	247,1537,2516	yes	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	159,159,159	336,2194,3973	AA,AC,CC		23.6163,18.9514,22.036	benign,benign,benign	628/836,664/872,575/783	31112737	2866,10140	2203	4300	6503	SO:0001583	missense	54535	exon14			GCTGGCCCTGGCG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1723G>T	6.37:g.31112737C>A	ENSP00000365442:p.Gly575Cys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	34	18	0.529412	NM_001105564	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	329	0.15064102564102563	90	0.18292682926829268	51	0.1408839779005525	26	0.045454545454545456	162	0.21372031662269128	C	12.17	1.857747	0.32791	0.189514	0.236163	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.79	1.49	0.22878	.	0.872767	0.09696	N	0.767660	T	0.05502	0.0145	M	0.65975	2.015	0.36574	P	0.12684600000000001	B;B;B;B;B	0.25206	0.077;0.01;0.029;0.12;0.099	B;B;B;B;B	0.29663	0.064;0.015;0.041;0.105;0.064	T	0.24297	-1.0164	9	0.51188	T	0.08	-4.183	7.474	0.27365	0.0:0.6716:0.0:0.3284	rs130079;rs1265077;rs16898850;rs17840016;rs52811991;rs57918849;rs130079	575;575;575;628;664	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	C	664;575;522;575;628	ENSP00000379566:G664C;ENSP00000365442:G575C;ENSP00000379561:G522C;ENSP00000401039:G628C	ENSP00000365442:G575C	G	-	1	0	CCHCR1	31220716	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	1.297000	0.33400	0.446000	0.26666	0.448000	0.29417	GGC	C|0.801;A|0.199	0.199	strong		0.652	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		A	31112737	C	A	31112737	3	1	22	1	0	0	0	0	1	0	0	0	2877	623	22	4	645	4	CCHCR1	6	31112737	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28302	31112737	140002330	3557	8665										
CCHCR1	54535	hgsc.bcm.edu	37	chr6	31118304	31118304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgcacctgcagcagctcCgcggtggcatgcaggctgtc	13	16	0	0	rs139910767		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31118304C>T	ENST00000376266.5	-	7	995	c.873G>A	c.(871-873)gcG>gcA	p.A291A	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.A380A|CCHCR1_ENST00000396263.2_Silent_p.A291A|CCHCR1_ENST00000451521.2_Silent_p.A344A	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	291					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCAGCAGCTCCGCGGTGGCAT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0				p.A380A		Atlas-SNP	.											.	CCHCR1	68	.	0			c.G1140A						PASS	.	C	,,	3,3019		0,3,1508	48	34	39		1032,1140,873	-9.5	0	6	dbSNP_134	39	0,5414		0,0,2707	no	coding-synonymous,coding-synonymous,coding-synonymous	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	,,	0,3,4215	TT,TC,CC		0.0,0.0993,0.0356	,,	344/836,380/872,291/783	31118304	3,8433	1511	2707	4218	SO:0001819	synonymous_variant	54535	exon7			CAGCTCCGCGGTG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.873G>A	6.37:g.31118304C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	93	45	0.483871	NM_001105564	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	CCDS4695.1																																																																																			C|0.999;T|0.001	0.001	strong		0.657	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		T	31118304	C	T	31118304	2	4	22	1	0	0	0	0	0	0	0	1	2877	639	23	1		1	CCHCR1	6	31118304	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5567	31118304	139996763	3558	8666										
CCHCR1	54535	hgsc.bcm.edu	37	chr6	31122500	31122500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggacctcctcctccagccGccgcagctcttgcagctgcc	9	21	1	0	rs130065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31122500G>A	ENST00000376266.5	-	4	429	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R192W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R103W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R156W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	103			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130065). {ECO:0000269|PubMed:10545595, ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCCTCCAGCCGCCGCAGCTCT	0.657													G|||	598	0.119409	0.1241	0.0793	5008	,	,		18354	0.0387		0.1918	False		,,,				2504	0.1503				p.R192W		Atlas-SNP	.											.	CCHCR1	68	.	0			c.C574T						PASS	.	G	TRP/ARG,TRP/ARG,TRP/ARG	410,2604		29,352,1126	31	36	34		466,574,307	4.4	1	6	dbSNP_78	34	1110,4304		120,870,1717	yes	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	101,101,101	149,1222,2843	AA,AG,GG		20.5024,13.6032,18.0351	benign,benign,benign	156/836,192/872,103/783	31122500	1520,6908	1507	2707	4214	SO:0001583	missense	54535	exon4			CCAGCCGCCGCAG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.307C>T	6.37:g.31122500G>A	ENSP00000365442:p.Arg103Trp	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_001105564	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	265	0.12133699633699634	62	0.12601626016260162	27	0.07458563535911603	26	0.045454545454545456	150	0.19788918205804748	G	18.11	3.550954	0.65311	0.136032	0.205024	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.33	4.37	0.52481	.	0.450693	0.21536	N	0.072963	T	0.05227	0.0139	M	0.69823	2.125	0.31057	P	0.7145239999999999	B;B;B;B;B	0.27997	0.019;0.019;0.019;0.197;0.066	B;B;B;B;B	0.25405	0.002;0.002;0.002;0.06;0.017	T	0.05178	-1.0901	9	0.59425	D	0.04	-22.3718	9.5976	0.39584	0.0:0.0:0.7385:0.2615	rs130065;rs3173361;rs17840019;rs58977051	103;103;103;156;192	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	W	192;103;103;103;156;67;67;103;77;67;103;103;103;129;103;201;103;103	ENSP00000379566:R192W;ENSP00000365442:R103W;ENSP00000379561:R103W;ENSP00000401039:R156W;ENSP00000414323:R67W;ENSP00000421393:R67W;ENSP00000390027:R103W;ENSP00000425682:R77W;ENSP00000421992:R67W;ENSP00000420941:R103W;ENSP00000398715:R103W;ENSP00000425595:R103W;ENSP00000402432:R201W;ENSP00000425377:R103W;ENSP00000420911:R103W	ENSP00000365442:R103W	R	-	1	2	CCHCR1	31230479	0.987000	0.35691	1.000000	0.80357	0.768000	0.43524	1.439000	0.35013	2.510000	0.84645	0.638000	0.83543	CGG	G|0.836;A|0.164	0.164	strong		0.657	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		A	31122500	G	A	31122500	3	1	22	1	0	0	0	0	1	0	0	0	2877	1086	38	1	2101	1	CCHCR1	6	31122500	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4196	31122500	139992567	3559	8667										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31237275	31237275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgccatcacttacacgcaGcctgagagcagctccctcct	8	18	1	1	rs41559915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31237275G>A	ENST00000376228.5	-	6	1057	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A354V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	354					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTTACACGCAGCCTGAGAGCA	0.557													G|||	167	0.0333466	0.0605	0.013	5008	,	,		18640	0.0069		0.006	False		,,,				2504	0.0665				p.A348V		Atlas-SNP	.											HLA-C_ENST00000383329,NS,carcinoma,-1,2	HLA-C	92	2	0			c.C1043T						PASS	.	G	VAL/ALA	216,4190		7,202,1994	64	68	67		1043	1.8	0	6	dbSNP_127	67	39,8561		0,39,4261	yes	missense	HLA-C	NM_002117.5	64	7,241,6255	AA,AG,GG		0.4535,4.9024,1.9606	benign	348/367	31237275	255,12751	2203	4300	6503	SO:0001583	missense	3107	exon6			CACGCAGCCTGAG	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.1043C>T	6.37:g.31237275G>A	ENSP00000365402:p.Ala348Val	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	155	81	0.522581	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	33	0.01510989010989011	22	0.044715447154471545	5	0.013812154696132596	1	0.0017482517482517483	5	0.006596306068601583	.	11.21	1.572853	0.28092	0.049024	0.004535	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000539307	T;T	0.04317	3.65;3.65	2.67	1.75	0.24633	MHC class I, alpha chain, C-terminal (1);	.	.	.	.	T	0.13243	0.0321	M	0.93106	3.38	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.03898	-1.0994	9	0.72032	D	0.01	.	6.7409	0.23435	0.0:0.0:0.7201:0.2799	rs41559915	348;354;348	A6H578;A2AEA2;P10321	.;.;1C07_HUMAN	V	348;354;385	ENSP00000365402:A348V;ENSP00000372819:A354V	ENSP00000365402:A348V	A	-	2	0	HLA-C	31345254	0.040000	0.19996	0.002000	0.10522	0.176000	0.22953	1.465000	0.35299	0.670000	0.31165	0.298000	0.19748	GCT	G|0.981;A|0.019	0.019	strong		0.557	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31237275	G	A	31237275	3	1	22	1	0	0	0	0	1	0	0	0	7197	971	34	2	69	2	HLA-C	6	31237275	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	114775	31237275	139877792	3560	8668										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239449	31239449	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgtgcctggcgcttgtaCttctgtgtctcccggtccca	11	15	2	0	rs28626310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31239449C>G	ENST00000376228.5	-	2	284	c.270G>C	c.(268-270)aaG>aaC	p.K90N	HLA-C_ENST00000383329.3_Missense_Mutation_p.K90N	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	90	Alpha-1.		K -> N (in dbSNP:rs28626310).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCGCTTGTACTTCTGTGTCT	0.701													c|||	710	0.141773	0.1452	0.1282	5008	,	,		12148	0.0516		0.168	False		,,,				2504	0.2127				p.K90N		Atlas-SNP	.											.	HLA-C	92	.	0			c.G270C						PASS	.	C	ASN/LYS	438,2584		26,386,1099	48	49	48		270	-5.5	0	6	dbSNP_125	48	999,4419		91,817,1801	no	missense	HLA-C	NM_002117.5	94	117,1203,2900	GG,GC,CC		18.4385,14.4937,17.0261	benign	90/367	31239449	1437,7003	1511	2709	4220	SO:0001583	missense	3107	exon2			CTTGTACTTCTGT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.270G>C	6.37:g.31239449C>G	ENSP00000365402:p.Lys90Asn	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	283	142	0.501767	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	260|260	0.11904761904761904|0.11904761904761904	60|60	0.12195121951219512|0.12195121951219512	47|47	0.1298342541436464|0.1298342541436464	26|26	0.045454545454545456|0.045454545454545456	127|127	0.16754617414248021|0.16754617414248021	-|-	0.008|0.008	-1.894729|-1.894729	0.00522|0.00522	0.144937|0.144937	0.184385|0.184385	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00009|.	9.48;9.48|.	2.75|2.75	-5.49|-5.49	0.02584|0.02584	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	2211.810000|.	0.00541|.	N|.	0.000226|.	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.01751|0.01751	-0.74|-0.74	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B|.	0.10296|.	0.003;0.003;0.001;0.003|.	B;B;B;B|.	0.21151|.	0.033;0.033;0.033;0.022|.	T|T	0.22941|0.22941	-1.0202|-1.0202	9|4	0.36615|.	T|.	0.2|.	.|.	3.7958|3.7958	0.08738|0.08738	0.0845:0.197:0.1701:0.5485|0.0845:0.197:0.1701:0.5485	rs28626310;rs41555912|rs28626310;rs41555912	90;90;90;90|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	N|L	90;90;90;127|90	ENSP00000365402:K90N;ENSP00000372819:K90N|.	ENSP00000365402:K90N|.	K|V	-|-	3|1	2|0	HLA-C|HLA-C	31347428|31347428	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-9.984000|-9.984000	0.00008|0.00008	-6.044000|-6.044000	0.00007|0.00007	-3.594000|-3.594000	0.00028|0.00028	AAG|GTA	C|0.840;G|0.160	0.160	strong		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31239449	C	G	31239449	3	3	22	1	0	0	0	0	1	0	0	0	7197	564	20	4	858	4	HLA-C	6	31239449	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2174	31239449	139875618	3561	8669										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324516	31324516	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccgcaggctctctcggtCagtctgtgcctgggccttgt	13	13	3	0	rs1131215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31324516C>A	ENST00000412585.2	-	2	320	c.292G>T	c.(292-294)Gac>Tac	p.D98Y		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTCTCGGTCAGTCTGTGCC	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3525	0.703874	0.7163	0.7507	5008	,	,		6748	0.6419		0.5954	False		,,,				2504	0.8292				p.D98Y		Atlas-SNP	.											HLA-B,colon,carcinoma,0,1	HLA-B	54	1	0			c.G292T						scavenged	.	A	TYR/ASP	2329,1909		891,547,681	50	52	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	292	-6.4	0	6	dbSNP_86	52	3737,4619		1270,1197,1711	no	missense	HLA-B	NM_005514.6	160	2161,1744,2392	AA,AC,CC		44.7224,45.0448,48.1658		98/363	31324516	6066,6528	2119	4178	6297	SO:0001583	missense	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CTCGGTCAGTCTG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.292G>T	6.37:g.31324516C>A	ENSP00000399168:p.Asp98Tyr	Somatic	40	40	1		WXS	Illumina HiSeq	Phase_I	67	66	0.985075	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	1363	0.6240842490842491	310	0.6300813008130082	257	0.7099447513812155	374	0.6538461538461539	422	0.5567282321899736	N	3.390	-0.124570	0.06795	0.549552	0.447224	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00009	9.52;9.52	3.2	-6.41	0.01938	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	6.155240	0.01158	U	0.006566	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;D	0.89917	0.354;0.057;1.0	B;B;D	0.97110	0.291;0.083;1.0	T	0.62120	-0.6921	9	0.02654	T	1	.	2.0223	0.03512	0.3366:0.364:0.0893:0.21	rs1131215;rs3177922;rs3190915;rs9266166;rs17413622	98;98;73	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	Y	98;109	ENSP00000399168:D98Y;ENSP00000405931:D109Y	ENSP00000399168:D98Y	D	-	1	0	HLA-B	31432495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.850000	0.01670	-2.027000	0.00932	-6.206000	0.00000	GAC	C|0.415;A|0.585	0.585	strong		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324516	C	A	31324516	3	1	22	1	0	0	0	0	1	0	0	0	7196	826	29	4	820	4	HLA-B	6	31324516	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85067	31324516	139790551	3562	8670										
MICA	100507436	hgsc.bcm.edu	37	chr6	31378358	31378358	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataacctcacggtgctgtccTgggatggatctgtgcagtca	12	10	3	0	rs1063630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31378358T>G	ENST00000449934.2	+	2	163	c.109T>G	c.(109-111)Tgg>Ggg	p.W37G	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGTGCTGTCCTGGGATGGATC	0.512													c|||	1343	0.268171	0.3797	0.3386	5008	,	,		20004	0.1786		0.1928	False		,,,				2504	0.2372				p.W37G		Atlas-SNP	.											.	MICA	21	.	0			c.T109G						PASS	.	C	GLY/TRP	476,908		97,282,313	9	10	10		109	-2.2	0	6	dbSNP_86	10	534,2640		46,442,1099	no	missense	MICA	NM_001177519.1	184	143,724,1412	GG,GT,TT		16.8242,34.3931,22.1588	benign	37/333	31378358	1010,3548	692	1587	2279	SO:0001583	missense	100507436	exon2			CTGTCCTGGGATG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.109T>G	6.37:g.31378358T>G	ENSP00000413079:p.Trp37Gly	Somatic	326	2	0.00613497		WXS	Illumina HiSeq	Phase_I	285	285	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	575	0.2632783882783883	179	0.3638211382113821	140	0.3867403314917127	95	0.1660839160839161	161	0.21240105540897097	N	6.451	0.451312	0.12223	0.343931	0.168242	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.00682	5.86;5.86	2.89	-2.15	0.07102	.	2.042530	0.02822	N	0.125645	T	0.00271	0.0008	N	0.16903	0.455	0.80722	P	0.0	B	0.32071	0.355	B	0.36845	0.234	T	0.41805	-0.9488	9	0.56958	D	0.05	.	4.6738	0.12701	0.1467:0.4801:0.0:0.3732	rs1063630;rs17206511;rs17882548;rs59366444	37	Q96QC4	.	G	37;37;37;24	ENSP00000413079:W37G;ENSP00000402410:W24G	ENSP00000365394:W37G	W	+	1	0	MICA	31486337	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.968000	0.03817	-0.789000	0.04498	-3.462000	0.00035	TGG	C|0.003;G|0.250;T|0.747	0.250	strong		0.512	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31378358	T	G	31378358	3	3	22	1	0	0	0	0	1	0	0	0	9568	1580	55	5	115	5	MICA	6	31378358	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53842	31378358	139736709	3563	8671			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31378387	31378387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgcagtcagggtttctTgctgaggtacatctggatgg	14	7	4	1	rs1063631|rs386699190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													c|||	1829	0.365216	0.4788	0.4078	5008	,	,		19543	0.3016		0.3141	False		,,,				2504	0.2996				p.L46L		Atlas-SNP	.											MICA,bladder,carcinoma,0,1	MICA	21	1	0			c.T138C						PASS	.	C		573,811		132,309,251	19	21	21		138	-5.8	0	6	dbSNP_86	21	881,2301		126,629,836	no	coding-synonymous	MICA	NM_001177519.1		258,938,1087	CC,CT,TT		27.687,41.4017,31.8441		46/333	31378387	1454,3112	692	1591	2283	SO:0001819	synonymous_variant	100507436	exon2			GTTTCTTGCTGAG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.138T>C	6.37:g.31378387T>C		Somatic	314	1	0.00318471		WXS	Illumina HiSeq	Phase_I	266	266	1	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			T|0.642;C|0.358	0.358	strong		0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		C	31378387	T	C	31378387	2	2	22	1	0	0	0	0	0	0	0	1	9568	1799	63	2		2	MICA	6	31378387	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29	31378387	139736680	3564	8672			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31378977	31378977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagactgaggaatggacaGtgccccagtcctccagagct	13	11	0	3	rs1051792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31378977G>A	ENST00000449934.2	+	3	508	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAATGGACAGTGCCCCAGTC	0.517													g|||	1827	0.364816	0.4788	0.4078	5008	,	,		20742	0.3006		0.3141	False		,,,				2504	0.2986				p.V152M		Atlas-SNP	.											.	MICA	21	.	0			c.G454A						PASS	.	G	MET/VAL	580,804		132,316,244	100	85	89		454	-0.6	0	6	dbSNP_86	89	919,2263		126,667,798	no	missense	MICA	NM_001177519.1	21	258,983,1042	AA,AG,GG		28.8812,41.9075,32.8296	probably-damaging	152/333	31378977	1499,3067	692	1591	2283	SO:0001583	missense	100507436	exon3			TGGACAGTGCCCC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.454G>A	6.37:g.31378977G>A	ENSP00000413079:p.Val152Met	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	178	178	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	800|800	0.3663003663003663|0.3663003663003663	228|228	0.4634146341463415|0.4634146341463415	169|169	0.46685082872928174|0.46685082872928174	160|160	0.27972027972027974|0.27972027972027974	243|243	0.32058047493403696|0.32058047493403696	.|N	0.869|0.869	-0.732690|-0.732690	0.03135|0.03135	0.419075|0.419075	0.288812|0.288812	ENSG00000204520|ENSG00000204520	ENST00000399172|ENST00000364810;ENST00000449934	.|T	.|0.00730	.|5.77	1.41|1.41	-0.635|-0.635	0.11512|0.11512	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00440	.|0.0014	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|D	.|0.53462	.|0.96	.|P	.|0.51550	.|0.673	.|T	.|0.51841	.|-0.8654	.|7	.|0.40728	.|T	.|0.16	.|.	2.6169|2.6169	0.04906|0.04906	0.3636:0.2644:0.372:0.0|0.3636:0.2644:0.372:0.0	rs1051792;rs3192169;rs3819270;rs16897487;rs17845518;rs17858408;rs17885687;rs1051792|rs1051792;rs3192169;rs3819270;rs16897487;rs17845518;rs17858408;rs17885687;rs1051792	.|152	.|Q96QC4	.|.	.|M	-1|152	.|ENSP00000413079:V152M	.|ENSP00000365394:V152M	.|V	+|+	.|1	.|0	MICA|MICA	31486956|31486956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.136000|0.136000	0.15974|0.15974	-0.189000|-0.189000	0.10482|0.10482	-0.667000|-0.667000	0.03836|0.03836	.|GTG	G|0.653;A|0.347	0.347	strong		0.517	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31378977	G	A	31378977	3	1	22	1	0	0	0	0	1	0	0	0	9568	1029	36	2	464	2	MICA	6	31378977	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	590	31378977	139736090	3565	8673			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379109	31379109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaactacggcgatatctaGaatccggcgtagtcctgagg	13	9	1	2	rs1051794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379109G>A	ENST00000449934.2	+	3	640	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GCGATATCTAGAATCCGGCGT	0.532													g|||	1826	0.364617	0.4796	0.4049	5008	,	,		21041	0.2996		0.3141	False		,,,				2504	0.2996				p.E196K		Atlas-SNP	.											.	MICA	21	.	0			c.G586A						PASS	.	G	LYS/GLU	580,804		132,316,244	98	87	91		586	-0.8	0	6	dbSNP_86	91	919,2263		126,667,798	yes	missense	MICA	NM_001177519.1	56	258,983,1042	AA,AG,GG		28.8812,41.9075,32.8296	benign	196/333	31379109	1499,3067	692	1591	2283	SO:0001583	missense	100507436	exon3			TATCTAGAATCCG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.586G>A	6.37:g.31379109G>A	ENSP00000413079:p.Glu196Lys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	799	0.3658424908424908	227	0.4613821138211382	169	0.46685082872928174	160	0.27972027972027974	243	0.32058047493403696	N	4.401	0.074063	0.08485	0.419075	0.288812	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	T	0.00864	5.6	1.31	-0.805	0.10879	.	3.050000	0.01394	N	0.013352	T	0.00271	0.0008	.	.	.	0.80722	P	0.0	B;B	0.12013	0.004;0.005	B;B	0.20577	0.012;0.03	T	0.47071	-0.9145	8	0.32370	T	0.25	.	2.9805	0.05952	0.2051:0.2819:0.5129:0.0	rs1051794;rs3192171;rs3819267;rs9266809;rs17417510;rs17845519;rs17858409;rs17883860;rs59858174;rs1051794	58;196	Q5SS58;Q96QC4	.;.	K	58;196;153;196	ENSP00000413079:E196K	ENSP00000365394:E196K	E	+	1	0	MICA	31487088	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.226000	0.09139	-0.322000	0.08615	-1.206000	0.01644	GAA	G|0.642;A|0.358	0.358	strong		0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31379109	G	A	31379109	3	1	22	1	0	0	0	0	1	0	0	0	9568	943	33	2	596	2	MICA	6	31379109	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132	31379109	139735958	3566	8674			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379773	31379773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcctcagagggcaacatCaccgtgacatgcagggcttc	13	12	2	2	rs1051796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379773C>T	ENST00000449934.2	+	4	717	c.663C>T	c.(661-663)atC>atT	p.I221I	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGGGCAACATCACCGTGACAT	0.602													c|||	1821	0.363618	0.4766	0.4049	5008	,	,		20346	0.3006		0.3141	False		,,,				2504	0.2975				p.I221I		Atlas-SNP	.											.	MICA	21	.	0			c.C663T						PASS	.	C		579,805		132,315,245	31	34	33		663	1.6	0	6	dbSNP_86	33	913,2269		126,661,804	no	coding-synonymous	MICA	NM_001177519.1		258,976,1049	TT,TC,CC		28.6926,41.8353,32.6763		221/333	31379773	1492,3074	692	1591	2283	SO:0001819	synonymous_variant	100507436	exon4			CAACATCACCGTG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.663C>T	6.37:g.31379773C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			.	.	weak		0.602	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379773	C	T	31379773	2	4	22	1	0	0	0	0	0	0	0	1	9568	816	29	2		2	MICA	6	31379773	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	664	31379773	139735294	3567	8675			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379794	31379794	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgtgacatgcagggcttcCagcttctatccccggaatat					rs1051797|rs386699191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379794C>T	ENST00000449934.2	+	4	738	c.684C>T	c.(682-684)tcC>tcT	p.S228S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GCAGGGCTTCCAGCTTCTATC	0.587													t|||	1823	0.364018	0.4773	0.4063	5008	,	,		19466	0.2996		0.3141	False		,,,				2504	0.2986				p.S228S		Atlas-SNP	.											.	MICA	21	.	0			c.C684T						PASS	.						21	25	24					6																	31379794		692	1591	2283	SO:0001819	synonymous_variant	100507436	exon4			GGCTTCCAGCTTC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.684C>T	6.37:g.31379794C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			C|0.698;T|0.302	0.302	strong		0.587	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379794	C	T	31379794	2	4	22	1	0	0	0	0	0	0	0	1	9568	581	21	2		2	MICA	6	31379794	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21	31379794	139735273	3568	8676	165	3	12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379795	31379795	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgacatgcagggcttccAgcttctatccccggaatatc					rs1131898|rs386699191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379795A>G	ENST00000449934.2	+	4	739	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGCTTCCAGCTTCTATCC	0.587													g|||	1823	0.364018	0.4773	0.4063	5008	,	,		19594	0.2996		0.3141	False		,,,				2504	0.2986				p.S229G		Atlas-SNP	.											.	MICA	21	.	0			c.A685G						PASS	.						20	24	23					6																	31379795		692	1591	2283	SO:0001583	missense	100507436	exon4			GCTTCCAGCTTCT	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.685A>G	6.37:g.31379795A>G	ENSP00000413079:p.Ser229Gly	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	664	0.304029304029304	188	0.3821138211382114	147	0.40607734806629836	134	0.23426573426573427	195	0.25725593667546176	N	0.013	-1.630927	0.00813	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.09163	3.01;3.01	2.52	-1.92	0.07618	.	1.300610	0.05734	N	0.600057	T	0.00967	0.0032	.	.	.	0.80722	P	0.0	B;B	0.14012	0.009;0.003	B;B	0.08055	0.003;0.001	T	0.43310	-0.9399	8	0.02654	T	1	.	8.8893	0.35423	0.6127:0.0:0.3873:0.0	rs1131898;rs3192173;rs17206701;rs17883642	91;229	Q5SS58;Q96QC4	.;.	G	91;229;186;229;120	ENSP00000413079:S229G;ENSP00000402410:S120G	ENSP00000365394:S229G	S	+	1	0	MICA	31487774	0.015000	0.18098	0.001000	0.08648	0.014000	0.08584	0.171000	0.16685	-0.782000	0.04541	-1.366000	0.01203	AGC	A|0.700;G|0.300	0.300	strong		0.587	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31379795	A	G	31379795	3	3	22	1	0	0	0	0	1	0	0	0	9568	188	7	3	699	3	MICA	6	31379795	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	31379795	139735272	3569	8677	165	3	12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379802	31379802	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagggcttccagcttctAtccccggaatatcatactga					rs41546915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379802A>G	ENST00000449934.2	+	4	746	c.692A>G	c.(691-693)tAt>tGt	p.Y231C	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TCCAGCTTCTATCCCCGGAAT	0.587													a|||	3	0.000599042	0.0023	0.0	5008	,	,		19291	0.0		0.0	False		,,,				2504	0.0				p.Y231C		Atlas-SNP	.											.	MICA	21	.	0			c.A692G						PASS	.						18	22	21					6																	31379802		692	1591	2283	SO:0001583	missense	100507436	exon4			GCTTCTATCCCCG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.692A>G	6.37:g.31379802A>G	ENSP00000413079:p.Tyr231Cys	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	79	39	0.493671	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044981	0.36085	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.04317	3.65;3.65	2.38	-2.63	0.06133	.	1.496520	0.04824	N	0.437454	T	0.13586	0.0329	H	0.95294	3.65	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06807	-1.0806	10	0.87932	D	0	.	3.1987	0.06643	0.4334:0.1971:0.0:0.3695	rs41546915	93;231	Q5SS58;Q96QC4	.;.	C	93;231;188;231;122	ENSP00000413079:Y231C;ENSP00000402410:Y122C	ENSP00000365394:Y231C	Y	+	2	0	MICA	31487781	0.626000	0.27120	0.004000	0.12327	0.037000	0.13140	-0.027000	0.12371	-0.196000	0.10366	0.365000	0.22127	TAT	.	.	weak		0.587	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31379802	A	G	31379802	3	3	22	1	0	0	0	0	1	0	0	0	9568	449	16	2	706	2	MICA	6	31379802	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7	31379802	139735265	3570	8678	165	3	12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31379823	31379823	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccggaatatcatactgaCctggcgtcaggatggggtat	12	10	2	1	rs1051799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31379823C>G	ENST00000449934.2	+	4	767	c.713C>G	c.(712-714)aCc>aGc	p.T238S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				ATCATACTGACCTGGCGTCAG	0.602													c|||	1823	0.364018	0.4773	0.4063	5008	,	,		18600	0.2996		0.3141	False		,,,				2504	0.2986				p.T238S		Atlas-SNP	.											.	MICA	21	.	0			c.C713G						PASS	.						17	19	18					6																	31379823		692	1588	2280	SO:0001583	missense	100507436	exon4			TACTGACCTGGCG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.713C>G	6.37:g.31379823C>G	ENSP00000413079:p.Thr238Ser	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	727	0.33287545787545786	205	0.4166666666666667	155	0.4281767955801105	147	0.256993006993007	220	0.29023746701846964	c	8.349	0.830533	0.16749	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.02812	4.15;4.15	2.52	-0.436	0.12275	.	1.351150	0.05555	U	0.568191	T	0.00724	0.0024	.	.	.	0.80722	P	0.0	B;B	0.23735	0.09;0.007	B;B	0.27076	0.076;0.033	T	0.48725	-0.9010	8	0.42905	T	0.14	.	2.5921	0.04845	0.2201:0.3535:0.0:0.4264	rs1051799;rs3192175;rs17200337;rs17845522;rs17858412;rs17881640;rs1051799	100;238	Q5SS58;Q96QC4	.;.	S	100;238;195;238;129	ENSP00000413079:T238S;ENSP00000402410:T129S	ENSP00000365394:T238S	T	+	2	0	MICA	31487802	0.026000	0.19158	0.013000	0.15412	0.012000	0.07955	-0.351000	0.07711	0.021000	0.15133	0.444000	0.29173	ACC	C|0.703;G|0.297	0.297	strong		0.602	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31379823	C	G	31379823	3	3	22	1	0	0	0	0	1	0	0	0	9568	507	18	4	727	4	MICA	6	31379823	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21	31379823	139735244	3571	8679			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31380153	31380153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacattccatgtttctgctgTtgctgctggctgctgctatt	10	10	1	0	rs199843678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31380153T>C	ENST00000449934.2	+	5	998	c.944T>C	c.(943-945)gTt>gCt	p.V315A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GTTTCTGCTGTTGCTGCTGGC	0.458																																					p.V315A		Atlas-SNP	.											MICA,uveal_tract,malignant_melanoma,0,1	MICA	21	1	0			c.T944C						PASS	.						288	263	270					6																	31380153		692	1591	2283	SO:0001583	missense	100507436	exon5			CTGCTGTTGCTGC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.944T>C	6.37:g.31380153T>C	ENSP00000413079:p.Val315Ala	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	103	17	0.165049	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	-	2.519	-0.311081	0.05458	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01203	5.61;5.18	1.55	-2.91	0.05631	.	.	.	.	.	T	0.00178	0.0005	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27226	-1.0080	9	0.38643	T	0.18	.	6.6027	0.22708	0.0:0.3216:0.0:0.6784	.	177;315	Q5SS58;Q96QC4	.;.	A	177;315;272;315;206	ENSP00000413079:V315A;ENSP00000402410:V206A	ENSP00000365394:V315A	V	+	2	0	MICA	31488132	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-3.279000	0.00529	-0.980000	0.03524	-0.576000	0.04144	GTT	T|0.973;C|0.027	0.027	strong		0.458	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		C	31380153	T	C	31380153	3	2	22	1	0	0	0	0	1	0	0	0	9568	1725	60	2	962	2	MICA	6	31380153	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	330	31380153	139734914	3572	8680			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31380194	31380194	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgttattattattttctaTgtccgttgttgtaagaagaa					rs41554412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31380194T>C	ENST00000449934.2	+	5	1039	c.985T>C	c.(985-987)Tgt>Cgt	p.C329R	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTATTTTCTATGTCCGTTGTT	0.468													t|||	1266	0.252796	0.3616	0.2853	5008	,	,		18607	0.1776		0.1779	False		,,,				2504	0.2372				p.C329R		Atlas-SNP	.											MICA,NS,carcinoma,-2,1	MICA	21	1	0			c.T985C						PASS	.						163	154	156					6																	31380194		692	1591	2283	SO:0001583	missense	100507436	exon5			TTTCTATGTCCGT	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.985T>C	6.37:g.31380194T>C	ENSP00000413079:p.Cys329Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	528	0.24175824175824176	172	0.34959349593495936	113	0.31215469613259667	94	0.16433566433566432	149	0.19656992084432717	-	7.095	0.572964	0.13623	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01438	5.44;4.89	1.49	0.201	0.15186	.	.	.	.	.	T	0.01029	0.0034	L	0.34521	1.04	0.80722	P	0.0	D;D	0.63046	0.992;0.992	P;P	0.59703	0.74;0.862	T	0.54098	-0.8344	8	0.87932	D	0	.	3.6509	0.08203	0.3419:0.0:0.0:0.6581	rs41554412;rs61738276	191;329	Q5SS58;Q96QC4	.;.	R	191;329;286;329;220	ENSP00000413079:C329R;ENSP00000402410:C220R	ENSP00000365394:C329R	C	+	1	0	MICA	31488173	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.397000	0.07269	0.086000	0.17137	0.310000	0.20435	TGT	T|0.773;C|0.227	0.227	strong		0.468	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		C	31380194	T	C	31380194	3	2	22	1	0	0	0	0	1	0	0	0	9568	1464	51	2	1003	2	MICA	6	31380194	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41	31380194	139734873	3573	8681	166	2	12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31380198	31380198	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattattattttctatgtcCgttgttgtaagaagaaaaca					rs61738275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31380198C>T	ENST00000449934.2	+	5	1043	c.989C>T	c.(988-990)cCg>cTg	p.P330L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTTCTATGTCCGTTGTTGTAA	0.483													c|||	1350	0.269569	0.385	0.3386	5008	,	,		18668	0.1786		0.1928	False		,,,				2504	0.2372				p.P330L		Atlas-SNP	.											.	MICA	21	.	0			c.C989T						PASS	.	C	LEU/PRO	460,924		102,256,334	148	139	142		989	-2	0	6	dbSNP_129	142	488,2694		47,394,1150	yes	missense	MICA	NM_001177519.1	98	149,650,1484	TT,TC,CC		15.3363,33.237,20.7622	benign	330/333	31380198	948,3618	692	1591	2283	SO:0001583	missense	100507436	exon5			TATGTCCGTTGTT	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.989C>T	6.37:g.31380198C>T	ENSP00000413079:p.Pro330Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	575	0.2632783882783883	181	0.3678861788617886	138	0.3812154696132597	95	0.1660839160839161	161	0.21240105540897097	-	8.649	0.897873	0.17686	0.33237	0.153363	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01203	5.64;5.18	1.38	-2.03	0.07365	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.80722	P	0.0	B;B	0.27732	0.187;0.187	B;B	0.10450	0.005;0.005	T	0.41716	-0.9493	8	0.87932	D	0	.	2.723	0.05206	0.0:0.3727:0.2545:0.3728	rs61738275	192;330	Q5SS58;Q96QC4	.;.	L	192;330;287;330;221	ENSP00000413079:P330L;ENSP00000402410:P221L	ENSP00000365394:P330L	P	+	2	0	MICA	31488177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.952000	0.00677	-0.645000	0.05458	0.378000	0.23410	CCG	C|0.748;T|0.252	0.252	strong		0.483	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31380198	C	T	31380198	3	4	22	1	0	0	0	0	1	0	0	0	9568	652	23	1	1007	1	MICA	6	31380198	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	31380198	139734869	3574	8682	166	2	12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
MICA	100507436	hgsc.bcm.edu	37	chr6	31382882	31382882	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcagcctctgatgtcagCtcttgggtccactggctcca	9	13	4	1	rs9266825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31382882C>A	ENST00000449934.2	+	0	1176				HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTGATGTCAGCTCTTGGGTCC	0.572													t|||	1717	0.342851	0.4372	0.3516	5008	,	,		14470	0.2996		0.2992	False		,,,				2504	0.2986				p.A373D		Atlas-SNP	.											.	MICA	21	.	0			c.C1118A						PASS	.	C		524,860		108,308,276	173	157	162			-1.5	0	6	dbSNP_118	162	821,2361		97,627,867	yes	utr-3	MICA	NM_001177519.1		205,935,1143	AA,AC,CC		25.8014,37.8613,29.4569			31382882	1345,3221	692	1591	2283	SO:0001624	3_prime_UTR_variant	100507436	exon7			TGTCAGCTCTTGG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.*123C>A	6.37:g.31382882C>A		Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_000247		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			C|0.666;A|0.334	0.334	strong		0.572	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31382882	C	A	31382882	1	1	22	0	1	0	0	0	0	0	0	0	9568	797	28	4		4	MICA	6	31382882	3'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2684	31382882	139732185	3575	8683			12	41	1466010	13	10	4525	N	T_G_C_A	4.837078e-05
BAT2	7916	hgsc.bcm.edu	37	chr6	31599594	31599594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgggggacgagggcggggAgcccgaagccgggaattccg	20	9	0	0	rs10947220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31599594A>G	ENST00000376033.2	+	16	3378	c.3144A>G	c.(3142-3144)ggA>ggG	p.G1048G	PRRC2A_ENST00000376007.4_Silent_p.G1048G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1048	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGGGCGGGGAGCCCGAAGCC	0.647													A|||	233	0.0465256	0.1006	0.0634	5008	,	,		12424	0.0179		0.0219	False		,,,				2504	0.0164				p.G1048G		Atlas-SNP	.											PRRC2A,NS,neuroblastoma,0,1	PRRC2A	152	1	0			c.A3144G						PASS	.	A	,	170,2840		4,162,1339	15	16	15		3144,3144	-0.8	1	6	dbSNP_120	15	114,5284		0,114,2585	no	coding-synonymous,coding-synonymous	PRRC2A	NM_004638.3,NM_080686.2	,	4,276,3924	GG,GA,AA		2.1119,5.6478,3.3777	,	1048/2158,1048/2158	31599594	284,8124	1505	2699	4204	SO:0001819	synonymous_variant	7916	exon16			GCGGGGAGCCCGA	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3144A>G	6.37:g.31599594A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																			A|0.949;G|0.050;T|0.000	0.050	strong		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31599594	A	G	31599594	2	3	22	1	0	0	0	0	0	0	0	1	1319	291	11	3		3	BAT2	6	31599594	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	216712	31599594	139515473	3576	8684										
BAT2	7916	hgsc.bcm.edu	37	chr6	31603189	31603189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggactcagacttacgcctaGtggtaggagacagcttgaaa	12	8	1	3	rs11538264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31603189G>A	ENST00000376033.2	+	23	5554	c.5320G>A	c.(5320-5322)Gtg>Atg	p.V1774M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.V1774M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1774	4 X 57 AA type A repeats.		V -> M (in dbSNP:rs11538264).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTTACGCCTAGTGGTAGGAGA	0.498													G|||	232	0.0463259	0.1006	0.0634	5008	,	,		24475	0.0179		0.0219	False		,,,				2504	0.0153				p.V1774M		Atlas-SNP	.											.	PRRC2A	152	.	0			c.G5320A						PASS	.	G	MET/VAL,MET/VAL	257,2765		10,237,1264	121	109	113		5320,5320	3.7	1	6	dbSNP_120	113	147,5271		1,145,2563	yes	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	21,21	11,382,3827	AA,AG,GG		2.7132,8.5043,4.7867	probably-damaging,probably-damaging	1774/2158,1774/2158	31603189	404,8036	1511	2709	4220	SO:0001583	missense	7916	exon23			CGCCTAGTGGTAG	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5320G>A	6.37:g.31603189G>A	ENSP00000365201:p.Val1774Met	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	221	110	0.497738	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	111	0.050824175824175824	55	0.11178861788617886	24	0.06629834254143646	16	0.027972027972027972	16	0.021108179419525065	G	5.652	0.304984	0.10678	0.085043	0.027132	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01647	4.71;4.71	5.51	3.71	0.42584	.	0.246078	0.28971	N	0.013543	T	0.00552	0.0018	N	0.22421	0.69	0.37881	P	0.06961200000000001	B	0.10296	0.003	B	0.09377	0.004	T	0.47983	-0.9074	9	0.87932	D	0	-3.1123	4.9425	0.13973	0.1686:0.0:0.6615:0.1699	rs11538264;rs17207253;rs11538264	1774	P48634	PRC2A_HUMAN	M	1768;1757;1774;1774;999	ENSP00000365175:V1774M;ENSP00000365201:V1774M	ENSP00000365175:V1774M	V	+	1	0	PRRC2A	31711168	0.924000	0.31332	0.977000	0.42913	0.401000	0.30781	2.140000	0.42159	0.863000	0.35553	-0.258000	0.10820	GTG	G|0.943;A|0.057	0.057	strong		0.498	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31603189	G	A	31603189	3	1	22	1	0	0	0	0	1	0	0	0	1319	1029	36	2	5406	2	BAT2	6	31603189	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3595	31603189	139511878	3577	8685										
BAT3	7917	hgsc.bcm.edu	37	chr6	31611746	31611746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcattggtacccagaccGgcgccctgctggatagagag	15	11	0	2	rs7770976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31611746G>A	ENST00000375964.6	-	13	1900	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	BAG6_ENST00000375976.4_Silent_p.A523A|BAG6_ENST00000211379.5_Silent_p.A523A|BAG6_ENST00000404765.2_Silent_p.A559A|BAG6_ENST00000362049.6_Silent_p.A523A|BAG6_ENST00000439687.2_Silent_p.A522A|BAG6_ENST00000470875.1_5'UTR	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	529	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TACCCAGACCGGCGCCCTGCT	0.572													g|||	249	0.0497204	0.1089	0.0706	5008	,	,		16839	0.0179		0.0229	False		,,,				2504	0.0153				p.A529A		Atlas-SNP	.											.	BAG6	73	.	0			c.C1587T						PASS	.		,,,,,	270,2752		11,248,1252	56	49	52		1569,1566,1569,1587,1569,1569	-9.5	0	6	dbSNP_116	52	150,5268		1,148,2560	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAG6	NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2	,,,,,	12,396,3812	AA,AG,GG		2.7685,8.9345,4.9763	,,,,,	523/1127,522/904,523/1078,529/1133,523/1127,523/1127	31611746	420,8020	1511	2709	4220	SO:0001819	synonymous_variant	7917	exon13			CAGACCGGCGCCC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1587C>T	6.37:g.31611746G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_004639	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	CCDS47403.1	120	0.054945054945054944	62	0.12601626016260162	26	0.0718232044198895	16	0.027972027972027972	16	0.021108179419525065	g	10.06	1.247589	0.22880	0.089345	0.027685	ENSG00000204463	ENST00000453833	.	.	.	5.71	-9.46	0.00597	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.58432	P	5.000000000032756E-6	.	.	.	.	.	.	T	0.25606	-1.0127	3	.	.	.	.	7.8245	0.29307	0.1575:0.0958:0.5816:0.1651	rs7770976;rs11548859;rs7770976	.	.	.	W	158	.	.	R	-	1	2	BAG6	31719725	0.005000	0.15991	0.011000	0.14972	0.374000	0.29953	-0.801000	0.04550	-1.067000	0.03160	-0.311000	0.09066	CGG	G|0.940;A|0.060	0.060	strong		0.572	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		A	31611746	G	A	31611746	2	1	22	1	0	0	0	0	0	0	0	1	1322	1103	39	1		1	BAT3	6	31611746	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8557	31611746	139503321	3578	8686										
BAT3	7917	hgsc.bcm.edu	37	chr6	31615514	31615514	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactttcaactggttctgaTgtttgagagctcaaggctac	9	9	4	2	rs10484558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31615514T>C	ENST00000375964.6	-	7	973	c.660A>G	c.(658-660)acA>acG	p.T220T	BAG6_ENST00000404765.2_Silent_p.T214T|BAG6_ENST00000211379.5_Silent_p.T214T|BAG6_ENST00000375976.4_Silent_p.T214T|BAG6_ENST00000439687.2_Silent_p.T214T|BAG6_ENST00000362049.6_Silent_p.T214T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	220	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGGTTCTGATGTTTGAGAGC	0.647													T|||	272	0.0543131	0.1278	0.0692	5008	,	,		15125	0.0179		0.0219	False		,,,				2504	0.0153				p.T220T		Atlas-SNP	.											.	BAG6	73	.	0			c.A660G						PASS	.	T	,,,,,	321,2699		16,289,1205	130	165	153		642,642,642,660,642,642	-3.1	0.3	6	dbSNP_119	153	150,5266		1,148,2559	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAG6	NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2	,,,,,	17,437,3764	CC,CT,TT		2.7696,10.6291,5.5832	,,,,,	214/1127,214/904,214/1078,220/1133,214/1127,214/1127	31615514	471,7965	1510	2708	4218	SO:0001819	synonymous_variant	7917	exon7			TTCTGATGTTTGA	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.660A>G	6.37:g.31615514T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	108	51	0.472222	NM_004639	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	CCDS47403.1																																																																																			T|0.937;C|0.063	0.063	strong		0.647	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		C	31615514	T	C	31615514	2	2	22	1	0	0	0	0	0	0	0	1	1322	1451	51	2		2	BAT3	6	31615514	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3768	31615514	139499553	3579	8687										
BAT4	7918	hgsc.bcm.edu	37	chr6	31630241	31630241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcctagtccttcctggtcCctcttgaggacagtggggat	12	11	1	1	rs7992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31630241C>T	ENST00000375906.1	-	4	1557	c.873G>A	c.(871-873)agG>agA	p.R291R	GPANK1_ENST00000375893.2_Silent_p.R291R|GPANK1_ENST00000375900.4_Silent_p.R291R|Y_RNA_ENST00000364337.1_RNA|C6orf47_ENST00000375911.1_5'Flank|GPANK1_ENST00000375896.4_Silent_p.R291R|C6orf47-AS1_ENST00000422049.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Silent_p.R291R	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	291	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTTCCTGGTCCCTCTTGAGGA	0.652													C|||	2058	0.410942	0.6135	0.4078	5008	,	,		17114	0.369		0.2952	False		,,,				2504	0.3016				p.R291R		Atlas-SNP	.											.	GPANK1	19	.	0			c.G873A						PASS	.	C	,,,,	1649,1373		451,747,313	81	83	82		873,873,873,873,873	1.8	1	6	dbSNP_52	82	1446,3972		198,1050,1461	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	649,1797,1774	TT,TC,CC		26.6888,45.4335,36.6706	,,,,	291/357,291/357,291/357,291/357,291/357	31630241	3095,5345	1511	2709	4220	SO:0001819	synonymous_variant	7918	exon4			CTGGTCCCTCTTG		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.873G>A	6.37:g.31630241C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	241	100	0.414938	NM_001199238	A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	CCDS4711.1																																																																																			C|0.620;T|0.380	0.380	strong		0.652	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		T	31630241	C	T	31630241	2	4	22	1	0	0	0	0	0	0	0	1	1323	622	22	2		2	BAT4	6	31630241	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14727	31630241	139484826	3580	8688										
BAT4	7918	hgsc.bcm.edu	37	chr6	31631907	31631907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtctcctaagttctggcaGgtccccctcctgggctgccc	10	17	2	0	rs928814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31631907G>A	ENST00000375906.1	-	3	1033	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	GPANK1_ENST00000375893.2_Silent_p.L117L|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375866.2_5'Flank|GPANK1_ENST00000375900.4_Silent_p.L117L|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Silent_p.L117L|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Silent_p.L117L	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	117							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGTTCTGGCAGGTCCCCCTCC	0.587													G|||	273	0.0545128	0.1263	0.0692	5008	,	,		16734	0.0179		0.0249	False		,,,				2504	0.0153				p.L117L		Atlas-SNP	.											.	GPANK1	19	.	0			c.C349T						PASS	.	G	,,,,	482,3924	227.8+/-242.9	25,432,1746	89	83	85		349,349,349,349,349	-4.9	0.1	6	dbSNP_86	85	232,8368	95.0+/-156.8	3,226,4071	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	28,658,5817	AA,AG,GG		2.6977,10.9396,5.4898	,,,,	117/357,117/357,117/357,117/357,117/357	31631907	714,12292	2203	4300	6503	SO:0001819	synonymous_variant	7918	exon3			CTGGCAGGTCCCC		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.349C>T	6.37:g.31631907G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	177	85	0.480226	NM_001199238	A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	CCDS4711.1																																																																																			G|0.935;A|0.065	0.065	strong		0.587	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		A	31631907	G	A	31631907	2	1	22	1	0	0	0	0	0	0	0	1	1323	991	35	2		2	BAT4	6	31631907	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1666	31631907	139483160	3581	8689										
CSNK2B	1460	hgsc.bcm.edu	37	chr6	31635710	31635710	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgagcaggtccctcactaTcgacaagctctagacatgat	8	11	2	3	rs14365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31635710T>C	ENST00000375882.2	+	3	294	c.138T>C	c.(136-138)taT>taC	p.Y46Y	GPANK1_ENST00000375893.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Silent_p.Y46Y|CSNK2B_ENST00000375866.2_Silent_p.Y46Y|LY6G5B_ENST00000409525.1_5'Flank|GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375906.1_5'Flank|GPANK1_ENST00000375896.4_5'Flank|CSNK2B_ENST00000375885.4_Silent_p.Y65Y|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Silent_p.Y46Y|GPANK1_ENST00000375895.2_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	46					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TCCCTCACTATCGACAAGCTC	0.468													T|||	1520	0.303514	0.4312	0.3501	5008	,	,		20497	0.2976		0.2237	False		,,,				2504	0.1861				p.Y46Y		Atlas-SNP	.											.	CSNK2B	15	.	0			c.T138C						PASS	.	T		1747,2659	521.1+/-370.4	342,1063,798	136	124	128		138	4.6	1	6	dbSNP_52	128	1656,6944	304.6+/-307.0	153,1350,2797	yes	coding-synonymous	CSNK2B	NM_001320.5		495,2413,3595	CC,CT,TT		19.2558,39.6505,26.1648		46/216	31635710	3403,9603	2203	4300	6503	SO:0001819	synonymous_variant	1460	exon3			TCACTATCGACAA	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.138T>C	6.37:g.31635710T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001320	B0UXA9|P07312|P13862|Q4VX47	Silent	SNP	ENST00000375882.2	37	CCDS4712.1																																																																																			T|0.720;C|0.280	0.280	strong		0.468	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		C	31635710	T	C	31635710	2	2	22	1	0	0	0	0	0	0	0	1	3959	1442	50	2		2	CSNK2B	6	31635710	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3803	31635710	139479357	3582	8690										
LY6G5B	58496	hgsc.bcm.edu	37	chr6	31639845	31639845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccctgcctctgtctgactCccagattcagtggttctacc	9	15	4	2	rs11758242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31639845C>A	ENST00000375864.4	+	3	1176	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Missense_Mutation_p.S76Y	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	131			S -> Y (in dbSNP:rs11758242).			extracellular region (GO:0005576)				lung(4)	4						CTGTCTGACTCCCAGATTCAG	0.607													C|||	286	0.0571086	0.1316	0.0764	5008	,	,		16595	0.0179		0.0258	False		,,,				2504	0.0153				p.S131Y		Atlas-SNP	.											LY6G5B,NS,carcinoma,0,1	LY6G5B	8	1	0			c.C392A						PASS	.	C	TYR/SER	334,2688		18,298,1195	53	50	51		392	-0.4	0	6	dbSNP_120	51	152,5264		1,150,2557	yes	missense	LY6G5B	NM_021221.2	144	19,448,3752	AA,AC,CC		2.8065,11.0523,5.7597	benign	131/202	31639845	486,7952	1511	2708	4219	SO:0001583	missense	58496	exon3			CTGACTCCCAGAT	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"chromosome 6 open reading frame 19"	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.392C>A	6.37:g.31639845C>A	ENSP00000365024:p.Ser131Tyr	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	137	57	0.416058	NM_021221	B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	CCDS34400.1	139	0.06364468864468864	74	0.15040650406504066	29	0.08011049723756906	16	0.027972027972027972	20	0.026385224274406333	C	0.580	-0.837366	0.02692	0.110523	0.028065	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.26067	1.76;1.76	3.68	-0.402	0.12404	.	.	.	.	.	T	0.05731	0.0150	L	0.29908	0.895	.	.	.	B	0.28324	0.207	B	0.27715	0.082	T	0.31586	-0.9938	8	0.62326	D	0.03	-0.2784	3.6555	0.08220	0.0:0.4487:0.1881:0.3632	rs11758242;rs52832321;rs11758242	131	Q8NDX9	LY65B_HUMAN	Y	128;131;76	ENSP00000365024:S131Y;ENSP00000386365:S76Y	ENSP00000365024:S131Y	S	+	2	0	LY6G5B	31747824	0.023000	0.18921	0.003000	0.11579	0.123000	0.20343	0.107000	0.15375	-0.100000	0.12241	-0.467000	0.05162	TCC	C|0.932;A|0.068	0.068	strong		0.607	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4			A	31639845	C	A	31639845	3	1	22	1	0	0	0	0	1	0	0	0	9092	855	30	4	402	4	LY6G5B	6	31639845	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4135	31639845	139475222	3583	8691										
LY6G6F	259215	hgsc.bcm.edu	37	chr6	31675501	31675501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccgggcggtactggtgcGctgtgctaggtcagcaccac	15	12	1	0	rs9267547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31675501G>A	ENST00000375832.4	+	2	341	c.319G>A	c.(319-321)Gct>Act	p.A107T	LY6G6F_ENST00000556581.1_Missense_Mutation_p.A107T|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Missense_Mutation_p.A107T	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	107	Ig-like V-type.		A -> T (in dbSNP:rs9267547). {ECO:0000269|PubMed:14574404}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A107T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GTACTGGTGCGCTGTGCTAGG	0.577													G|||	755	0.150759	0.2882	0.1182	5008	,	,		20295	0.0893		0.0875	False		,,,				2504	0.1166				p.A107T		Atlas-SNP	.											LY6G6F,NS,lymphoid_neoplasm,0,1	LY6G6F	23	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G319A						PASS	.	G	THR/ALA	1077,3329	391.7+/-328.2	126,825,1252	70	61	64		319	0.9	0	6	dbSNP_118	64	791,7809	185.0+/-232.9	41,709,3550	yes	missense	LY6G6F	NM_001003693.1	58	167,1534,4802	AA,AG,GG		9.1977,24.4439,14.3626	benign	107/298	31675501	1868,11138	2203	4300	6503	SO:0001583	missense	259215	exon2			TGGTGCGCTGTGC		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.319G>A	6.37:g.31675501G>A	ENSP00000364992:p.Ala107Thr	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	192	113	0.588542	NM_001003693	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	CCDS34403.1	314	0.14377289377289376	150	0.3048780487804878	45	0.12430939226519337	50	0.08741258741258741	69	0.09102902374670185	G	11.78	1.740009	0.30865	0.244439	0.091977	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.67865	-0.29;-0.29;-0.29	5.51	0.936	0.19488	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.333539	0.25584	N	0.029665	T	0.29028	0.0721	L	0.42245	1.32	0.80722	P	0.0	B;B	0.24576	0.106;0.106	B;B	0.17979	0.02;0.02	T	0.02326	-1.1176	9	0.29301	T	0.29	-0.0497	3.1427	0.06461	0.2529:0.0:0.4535:0.2936	rs9267547;rs17207364;rs59072028;rs9267547	107;107	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	T	107	ENSP00000452432:A107T;ENSP00000364992:A107T;ENSP00000421232:A107T	ENSP00000364992:A107T	A	+	1	0	XXbac-BPG32J3.19;LY6G6F	31783480	0.000000	0.05858	0.030000	0.17652	0.983000	0.72400	0.004000	0.13106	0.585000	0.29608	0.591000	0.81541	GCT	G|0.854;A|0.146	0.146	strong		0.577	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		A	31675501	G	A	31675501	3	1	22	1	0	0	0	0	1	0	0	0	9096	1087	38	1	325	1	LY6G6F	6	31675501	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35656	31675501	139439566	3584	8692										
LY6G6C	80740	hgsc.bcm.edu	37	chr6	31687008	31687008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatatgtcagacccagcttGcggttggtttggttgaaggc	13	7	1	2	rs1065356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31687008G>A	ENST00000375819.2	-	3	408	c.243C>T	c.(241-243)cgC>cgT	p.R81R	LY6G6C_ENST00000495859.1_Silent_p.R25R	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	81	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GACCCAGCTTGCGGTTGGTTT	0.577													g|||	1610	0.321486	0.5144	0.3012	5008	,	,		19313	0.1935		0.2525	False		,,,				2504	0.2781				p.R81R		Atlas-SNP	.											LY6G6C,NS,adenocarcinoma,-1,1	LY6G6C	9	1	0			c.C243T						PASS	.			2069,2337	572.6+/-383.4	484,1101,618	162	146	151		243	2.4	0.8	6	dbSNP_86	151	1863,6737	331.4+/-319.6	219,1425,2656	no	coding-synonymous	LY6G6C	NM_025261.2		703,2526,3274	AA,AG,GG		21.6628,46.9587,30.2322		81/126	31687008	3932,9074	2203	4300	6503	SO:0001819	synonymous_variant	80740	exon3			CAGCTTGCGGTTG		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.243C>T	6.37:g.31687008G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	181	87	0.480663	NM_025261	Q5SRS8|Q8IY94	Silent	SNP	ENST00000375819.2	37	CCDS4714.1																																																																																			G|0.690;A|0.310	0.310	strong		0.577	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			A	31687008	G	A	31687008	2	1	22	1	0	0	0	0	0	0	0	1	9094	1306	46	2		2	LY6G6C	6	31687008	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11507	31687008	139428059	3585	8693										
C6orf25	80740	hgsc.bcm.edu	37	chr6	31692558	31692558	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagctccacttgtgaaaacCgagccccagaggccagtaaa	9	12	0	2	rs34741956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31692558C>T	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Silent_p.T162T|C6orf25_ENST00000480039.1_Silent_p.T186T|C6orf25_ENST00000375810.4_Nonsense_Mutation_p.R193*|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Nonsense_Mutation_p.R193*	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTGTGAAAACCGAGCCCCAGA	0.572													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16458	0.0		0.0	False		,,,				2504	0.0				p.R193X		Atlas-SNP	.											.	C6orf25	52	.	0			c.C577T						PASS	.	C	stop/ARG,,,stop/ARG,,stop/ARG	11,4395	19.1+/-41.9	0,11,2192	55	50	52		577,558,486,445,426,577	-8.9	0	6	dbSNP_126	52	0,8600		0,0,4300	yes	stop-gained,coding-synonymous,coding-synonymous,stop-gained,coding-synonymous,stop-gained	C6orf25	NM_025260.3,NM_138272.2,NM_138273.2,NM_138274.2,NM_138275.2,NM_138277.2	,,,,,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,,,,,	193/238,186/242,162/218,149/194,142/198,193/223	31692558	11,12995	2203	4300	6503	SO:0001631	upstream_gene_variant	80739	exon5			GAAAACCGAGCCC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692558C>T	Exception_encountered	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	152	77	0.506579	NM_138277	Q5SRS8|Q8IY94	Nonsense_Mutation	SNP	ENST00000375819.2	37	CCDS4714.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	6.984	0.551598	0.13374	0.002497	0.0	ENSG00000204420	ENST00000375810;ENST00000375809;ENST00000375804	.	.	.	4.71	-8.89	0.00785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2739	0.9778	0.01429	0.2001:0.1463:0.3061:0.3475	rs34741956	.	.	.	X	193;193;149	.	ENSP00000364962:R149X	R	+	1	2	C6orf25	31800537	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.465000	0.00995	-1.689000	0.01434	0.591000	0.81541	CGA	C|0.997;T|0.003	0.003	strong		0.572	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			T	31692558	C	T	31692558	1	4	22	0	1	0	0	0	0	0	0	0	2360	644	23	1		1	C6orf25	6	31692558	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5550	31692558	139422509	3586	8694										
MSH5	4439	hgsc.bcm.edu	37	chr6	31709045	31709045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccccagaccacgagagcCtcaagcttctccagagaggt	10	14	2	3	rs28381349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31709045C>T	ENST00000375755.3	+	3	539	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000534153.4_Missense_Mutation_p.L85F|MSH5_ENST00000375750.3_Missense_Mutation_p.L85F|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.L85F|MSH5_ENST00000375742.3_Missense_Mutation_p.L85F|MSH5_ENST00000375740.3_Missense_Mutation_p.L85F|CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.L85F	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	85			L -> F (in dbSNP:rs28381349). {ECO:0000269|Ref.5}.		ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CCACGAGAGCCTCAAGCTTCT	0.502								Direct reversal of damage;Mismatch excision repair (MMR)					C|||	163	0.0325479	0.0772	0.062	5008	,	,		17256	0.0		0.0169	False		,,,				2504	0.001				p.L85F		Atlas-SNP	.											.	MSH5	108	.	0			c.C253T						PASS	.	C	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	207,2815		6,195,1310	237	213	222	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	253,253,253,253	5	1	6	dbSNP_125	222	115,5303		1,113,2595	yes	missense,missense,missense,missense	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	22,22,22,22	7,308,3905	TT,TC,CC		2.1226,6.8498,3.8152	benign,benign,benign,benign	85/835,85/823,85/836,85/835	31709045	322,8118	1511	2709	4220	SO:0001583	missense	4439	exon3			GAGAGCCTCAAGC	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.253C>T	6.37:g.31709045C>T	ENSP00000364908:p.Leu85Phe	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	120	54	0.45	NM_172165	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	82	0.037545787545787544	46	0.09349593495934959	22	0.06077348066298342	0	0.0	14	0.018469656992084433	C	9.092	1.002008	0.19121	0.068498	0.021226	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000425703;ENST00000534153;ENST00000375703;ENST00000375740	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000004	T	0.20007	0.0481	L	0.31420	0.93	0.41340	P	0.012704999999999966	B;B;B;B	0.32717	0.127;0.013;0.007;0.381	B;B;B;B	0.32533	0.049;0.013;0.025;0.147	T	0.06991	-1.0796	9	0.14656	T	0.56	-22.2256	9.4858	0.38928	0.0:0.9033:0.0:0.0967	rs28381349;rs28381349	85;85;85;85	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	F	85	ENSP00000364908:L85F;ENSP00000364894:L85F;ENSP00000364903:L85F;ENSP00000402842:L85F;ENSP00000431693:L85F;ENSP00000364855:L85F;ENSP00000364892:L85F	ENSP00000364855:L85F	L	+	1	0	MSH5	31817024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.348000	0.79779	0.650000	0.86243	CTC	C|0.957;T|0.043	0.043	strong		0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			T	31709045	C	T	31709045	3	4	22	1	0	0	0	0	1	0	0	0	9873	681	24	2	259	2	MSH5	6	31709045	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16487	31709045	139406022	3587	8695										
MSH5	4439	hgsc.bcm.edu	37	chr6	31729359	31729359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagccttgttcagctacaActgctgccacaagggcccct	9	15	1	1	rs707938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31729359A>G	ENST00000375755.3	+	22	2434	c.2148A>G	c.(2146-2148)caA>caG	p.Q716Q	SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000431848.2_Silent_p.Q415Q|MSH5_ENST00000534153.4_Silent_p.Q733Q|MSH5_ENST00000375750.3_Silent_p.Q716Q|MSH5_ENST00000395853.1_Silent_p.Q390Q|MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q733Q|MSH5_ENST00000375742.3_Silent_p.Q733Q|MSH5_ENST00000375740.3_Silent_p.Q734Q|MSH5_ENST00000375703.3_Silent_p.Q717Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	716					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTCAGCTACAACTGCTGCCAC	0.607								Direct reversal of damage;Mismatch excision repair (MMR)					G|||	2340	0.467252	0.6929	0.4236	5008	,	,		17393	0.3512		0.3191	False		,,,				2504	0.4652				p.Q734Q		Atlas-SNP	.											.	MSH5	108	.	0			c.A2202G						PASS	.	G	,,,	2847,1559		925,997,281	47	53	51		2148,2202,2151,2148	2.6	1	6	dbSNP_86	51	2724,5876		455,1814,2031	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	,,,	1380,2811,2312	GG,GA,AA		31.6744,35.3836,42.8341	,,,	716/835,734/823,717/836,716/835	31729359	5571,7435	2203	4300	6503	SO:0001819	synonymous_variant	4439	exon22			GCTACAACTGCTG	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2148A>G	6.37:g.31729359A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	90	58	0.644444	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																			A|0.573;G|0.427	0.427	strong		0.607	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			G	31729359	A	G	31729359	2	3	22	1	0	0	0	0	0	0	0	1	9873	40	2	2		2	MSH5	6	31729359	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20314	31729359	139385708	3588	8696										
MSH5	4439	hgsc.bcm.edu	37	chr6	31729925	31729925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtggaaaacccatcaagCctgtcaaggatttgctaaag	10	9	2	0	rs1802127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31729925C>T	ENST00000375755.3	+	24	2642	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000431848.2_Missense_Mutation_p.P485S|MSH5_ENST00000534153.4_Missense_Mutation_p.P803S|MSH5_ENST00000375750.3_Missense_Mutation_p.P786S|MSH5_ENST00000395853.1_Missense_Mutation_p.P460S|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.P803S|MSH5_ENST00000375742.3_Missense_Mutation_p.P803S|MSH5_ENST00000375740.3_Missense_Mutation_p.P774S|MSH5_ENST00000375703.3_Missense_Mutation_p.P787S	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	786			P -> S (in dbSNP:rs1802127). {ECO:0000269|Ref.5}.		ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						ACCCATCAAGCCTGTCAAGGA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)					C|||	237	0.0473243	0.1278	0.0677	5008	,	,		20593	0.0		0.0199	False		,,,				2504	0.001				p.P787S		Atlas-SNP	.											.	MSH5	108	.	0			c.C2359T	GRCh37	CM062879	MSH5	M	rs1802127	PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	510,3896	236.8+/-248.8	25,460,1718	91	90	90		2356,2320,2359,2356	4.8	1	6	dbSNP_89	90	187,8413	83.7+/-146.2	4,179,4117	yes	missense,missense,missense,missense	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	74,74,74,74	29,639,5835	TT,TC,CC		2.1744,11.5751,5.3591	benign,benign,benign,benign	786/835,774/823,787/836,786/835	31729925	697,12309	2203	4300	6503	SO:0001583	missense	4439	exon24			ATCAAGCCTGTCA	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2356C>T	6.37:g.31729925C>T	ENSP00000364908:p.Pro786Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	159	73	0.459119	NM_172165	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	109	0.04990842490842491	68	0.13821138211382114	26	0.0718232044198895	0	0.0	15	0.01978891820580475	C	12.68	2.009778	0.35415	0.115751	0.021744	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;T	0.86432	-1.87;-1.87;-1.87;-1.87;-1.87;-2.12;-1.71;-1.7;1.01	5.63	4.76	0.60689	.	0.190852	0.46145	D	0.000318	T	0.59500	0.2198	N	0.24115	0.695	0.24721	P	0.993149	B;B;B;B;B	0.32753	0.049;0.383;0.306;0.035;0.253	B;B;B;B;B	0.30029	0.024;0.107;0.11;0.039;0.108	T	0.53662	-0.8407	9	0.13108	T	0.6	-16.5078	8.2023	0.31432	0.0:0.7575:0.1591:0.0834	rs1802127;rs16900023;rs28399984;rs52814864;rs1802127	441;774;786;787;803	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	S	786;803;786;803;787;774;485;460;108;142	ENSP00000364908:P786S;ENSP00000364894:P803S;ENSP00000364903:P786S;ENSP00000431693:P803S;ENSP00000364855:P787S;ENSP00000364892:P774S;ENSP00000416784:P485S;ENSP00000379194:P460S;ENSP00000406849:P108S	ENSP00000364855:P787S	P	+	1	0	MSH5;MSH5-C6orf26	31837904	0.717000	0.27966	0.970000	0.41538	0.926000	0.56050	2.164000	0.42387	1.360000	0.45960	0.655000	0.94253	CCT	C|0.942;T|0.058	0.058	strong		0.493	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			T	31729925	C	T	31729925	3	4	22	1	0	0	0	0	1	0	0	0	9873	739	26	2	2500	2	MSH5	6	31729925	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	566	31729925	139385142	3589	8697										
VARS	7407	hgsc.bcm.edu	37	chr6	31747833	31747833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgggcagtggtgacggccGggaagtcgtaggcctggaag	19	8	0	1	rs1076827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31747833G>A	ENST00000375663.3	-	26	3463	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1008			P -> L (in dbSNP:rs1076827).		gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTGACGGCCGGGAAGTCGTA	0.627													G|||	95	0.0189696	0.0658	0.0101	5008	,	,		17107	0.0		0.0	False		,,,				2504	0.001				p.P1008L		Atlas-SNP	.											.	VARS	76	.	0			c.C3023T						PASS	.	G	LEU/PRO	261,4145	150.3+/-184.3	5,251,1947	59	61	61		3023	5.2	1	6	dbSNP_86	61	5,8595	4.3+/-15.6	0,5,4295	yes	missense	VARS	NM_006295.2	98	5,256,6242	AA,AG,GG		0.0581,5.9237,2.0452	possibly-damaging	1008/1265	31747833	266,12740	2203	4300	6503	SO:0001583	missense	7407	exon26			ACGGCCGGGAAGT	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3023C>T	6.37:g.31747833G>A	ENSP00000364815:p.Pro1008Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	37	0.5	NM_006295	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	43	0.019688644688644688	40	0.08130081300813008	3	0.008287292817679558	0	0.0	0	0.0	G	12.66	2.003411	0.35320	0.059237	5.81E-4	ENSG00000204394	ENST00000375663	T	0.13420	2.59	5.23	5.23	0.72850	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.48260	1.515	0.80722	D	1	D	0.58268	0.982	P	0.55667	0.781	T	0.05178	-1.0901	10	0.21014	T	0.42	-11.0663	16.2949	0.82765	0.0:0.0:1.0:0.0	rs1076827;rs4368836;rs16867555;rs1076827	1008	P26640	SYVC_HUMAN	L	1008	ENSP00000364815:P1008L	ENSP00000364815:P1008L	P	-	2	0	VARS	31855812	1.000000	0.71417	0.975000	0.42487	0.423000	0.31445	5.547000	0.67249	2.445000	0.82738	0.650000	0.86243	CCG	G|0.978;A|0.022	0.022	strong		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31747833	G	A	31747833	3	1	22	1	0	0	0	0	1	0	0	0	17120	1116	39	1	791	1	VARS	6	31747833	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17908	31747833	139367234	3590	8698										
HSPA1L	3305	hgsc.bcm.edu	37	chr6	31778529	31778529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtcatcacgcccccagcCgtctccagccccagggacag	10	19	3	0	rs2075799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31778529C>T	ENST00000375654.4	-	2	1410	c.1221G>A	c.(1219-1221)acG>acA	p.T407T	HSPA1L_ENST00000417199.3_Silent_p.T407T	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	407					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGCCCCCAGCCGTCTCCAGCC	0.612													C|||	769	0.153554	0.233	0.1513	5008	,	,		17495	0.1845		0.0875	False		,,,				2504	0.0838				p.T407T		Atlas-SNP	.											HSPA1L,caecum,carcinoma,0,1	HSPA1L	185	1	0			c.G1221A						PASS	.	C		940,3466	358.1+/-314.2	90,760,1353	75	71	72		1221	-10.4	0	6	dbSNP_96	72	675,7925	168.8+/-220.3	36,603,3661	yes	coding-synonymous	HSPA1L	NM_005527.3		126,1363,5014	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	7.8488,21.3345,12.4173		407/642	31778529	1615,11391	2203	4300	6503	SO:0001819	synonymous_variant	3305	exon2			CCCAGCCGTCTCC	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1221G>A	6.37:g.31778529C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	166	81	0.487952	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	CCDS34413.1																																																																																			C|0.854;T|0.146	0.146	strong		0.612	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			T	31778529	C	T	31778529	2	4	22	1	0	0	0	0	0	0	0	1	7410	639	23	1		1	HSPA1L	6	31778529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30696	31778529	139336538	3591	8699										
C6orf48	50854	hgsc.bcm.edu	37	chr6	31807372	31807373	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcatatcctaagaacttINSacaactttcctgtattatcc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31807372_31807373insA	ENST00000375640.3	+	4	887_888	c.160_161insA	c.(160-162)tacfs	p.Y54fs	C6orf48_ENST00000395789.1_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000395788.3_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000375642.2_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000375638.3_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000375639.2_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000375633.1_Frame_Shift_Ins_p.Y54fs|SNORD52_ENST00000364884.1_RNA|C6orf48_ENST00000375641.2_Frame_Shift_Ins_p.Y54fs|C6orf48_ENST00000375635.2_Frame_Shift_Ins_p.Y54fs	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	54										breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CCTAAGAACTTACAACTTTCCT	0.391																																					p.Y54_N55delinsX		Pindel,Atlas-Indel	.											.	C6orf48	8	.	0			c.160_161insA						PASS	.																																			SO:0001589	frameshift_variant	50854	exon5			.	AJ249732	CCDS34416.1	6p21.33	2011-12-13			ENSG00000204387	ENSG00000204387			19078	protein-coding gene	gene with protein product		605447				8096093	Standard	NM_001287483		Approved	D6S57, G8	uc003rjy.2	Q9UBA6	OTTHUMG00000031175	ENST00000375640.3:c.161dupA	6.37:g.31807373_31807373dupA	ENSP00000364791:p.Tyr54fs	Somatic	119	.	.		WXS	Illumina HiSeq	Phase_I	120	41	0.342	NM_001040437	Q9BW21|Q9UBA7|Q9UBA8	Frame_Shift_Ins	INS	ENST00000375640.3	37	CCDS34416.1																																																																																			.	.	none		0.391	C6orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076332.2	NM_001040437		A	31807373	-	A	31807372	7	5	22	1	0	1	1	0	0	0	0	0	2365	1754	61	0	166	0	C6orf48	6	31807372	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	28843	31807372	139307695	3592	8700										
SLC44A4	80736	hgsc.bcm.edu	37	chr6	31838713	31838713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagcagtagtagatgccGtatgccagcacgcccagcac	10	15	0	1	rs494620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31838713G>A	ENST00000229729.6	-	10	833	c.813C>T	c.(811-813)taC>taT	p.Y271Y	SLC44A4_ENST00000544672.1_Silent_p.Y195Y|SLC44A4_ENST00000375562.4_Silent_p.Y229Y	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	271					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGTAGATGCCGTATGCCAGCA	0.617													G|||	2157	0.430711	0.4319	0.4683	5008	,	,		18737	0.4206		0.4513	False		,,,				2504	0.3916				p.Y271Y		Atlas-SNP	.											.	SLC44A4	67	.	0			c.C813T						PASS	.	G	,,	1287,1735		275,737,499	59	46	51	http://www.ncbi.nlm.nih.gov/pubmed?term	687,585,813	-2.5	0.9	6	dbSNP_83	51	2241,3177		472,1297,940	yes	coding-synonymous,coding-synonymous,coding-synonymous	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	,,	747,2034,1439	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	41.3621,42.5877,41.8009	,,	229/669,195/635,271/711	31838713	3528,4912	1511	2709	4220	SO:0001819	synonymous_variant	80736	exon10			GATGCCGTATGCC	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.813C>T	6.37:g.31838713G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	34	0.492754	NM_025257	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	CCDS4724.2																																																																																			G|0.559;A|0.441	0.441	strong		0.617	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			A	31838713	G	A	31838713	2	1	22	1	0	0	0	0	0	0	0	1	14638	1140	40	1		1	SLC44A4	6	31838713	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31341	31838713	139276354	3593	8701										
SKIV2L	6499	hgsc.bcm.edu	37	chr6	31928039	31928039	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggtctcttttggctgtCctgggagccccagtcccatc	10	16	1	0	rs11541400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:31928039C>G	ENST00000375394.2	+	4	392	c.279C>G	c.(277-279)gtC>gtG	p.V93V	SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000444811.2_5'Flank|NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	93					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTTTGGCTGTCCTGGGAGCCC	0.517													C|||	22	0.00439297	0.0121	0.0058	5008	,	,		19192	0.0		0.002	False		,,,				2504	0.0				p.V93V		Atlas-SNP	.											.	SKIV2L	97	.	0			c.C279G						PASS	.	C		28,2994		0,28,1483	140	173	161		279	0.1	0	6	dbSNP_120	161	33,5385		0,33,2676	no	coding-synonymous	SKIV2L	NM_006929.4		0,61,4159	GG,GC,CC		0.6091,0.9265,0.7227		93/1247	31928039	61,8379	1511	2709	4220	SO:0001819	synonymous_variant	6499	exon4			GGCTGTCCTGGGA		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.279C>G	6.37:g.31928039C>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_006929	O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	CCDS4731.1																																																																																			C|0.993;G|0.007	0.007	strong		0.517	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			G	31928039	C	G	31928039	2	3	22	1	0	0	0	0	0	0	0	1	14359	842	30	4		4	SKIV2L	6	31928039	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89326	31928039	139187028	3594	8702										
TNXB	7148	hgsc.bcm.edu	37	chr6	32014190	32014190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggtctcctcagccacGgtcagttcccccaggtgggg	14	14	3	0	rs116701346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32014190G>A	ENST00000375244.3	-	31	10569	c.10368C>T	c.(10366-10368)acC>acT	p.T3456T	TNXB_ENST00000375247.2_Silent_p.T3454T|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3501	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCAGCCACGGTCAGTTCCC	0.632													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		18563	0.0		0.0	False		,,,				2504	0.0				p.T3454T		Atlas-SNP	.											.	TNXB	553	.	0			c.C10362T						PASS	.	G		13,2817		0,13,1402	27	32	30		10362	-4.5	0.2	6	dbSNP_132	30	2,5274		0,2,2636	no	coding-synonymous	TNXB	NM_019105.6		0,15,4038	AA,AG,GG		0.0379,0.4594,0.185		3454/4243	32014190	15,8091	1415	2638	4053	SO:0001819	synonymous_variant	7148	exon31			AGCCACGGTCAGT	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10368C>T	6.37:g.32014190G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	79	47	0.594937	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				G|0.996;A|0.004	0.004	strong		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32014190	G	A	32014190	2	1	22	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32014190	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86151	32014190	139100877	3595	8703										
TNXB	7148	hgsc.bcm.edu	37	chr6	32023903	32023903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggctcctcagggggctccGgggcctcagtgctgagttcc	16	14	2	1	rs440160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32023903G>C	ENST00000375244.3	-	24	8393	c.8192C>G	c.(8191-8193)cCg>cGg	p.P2731R	TNXB_ENST00000375247.2_Missense_Mutation_p.P2731R			P22105	TENX_HUMAN	tenascin XB	2789	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGGCTCCGGGGCCTCAGT	0.642													G|||	223	0.0445288	0.1036	0.0605	5008	,	,		14531	0.001		0.0427	False		,,,				2504	0.0				p.P2731R		Atlas-SNP	.											.	TNXB	553	.	0			c.C8192G						PASS	.	G	ARG/PRO	201,2183		10,181,1001	40	47	45		8192	4.5	1	6	dbSNP_80	45	209,4793		4,201,2296	no	missense	TNXB	NM_019105.6	103	14,382,3297	CC,CG,GG		4.1783,8.4312,5.551	probably-damaging	2731/4243	32023903	410,6976	1192	2501	3693	SO:0001583	missense	7148	exon24			GGCTCCGGGGCCT	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8192C>G	6.37:g.32023903G>C	ENSP00000364393:p.Pro2731Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	126	63	0.5	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		94	0.04304029304029304	42	0.08536585365853659	22	0.06077348066298342	1	0.0017482517482517483	29	0.03825857519788918	G	15.03	2.713296	0.48517	0.084312	0.041783	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61510	0.47;0.1	4.48	4.48	0.54585	.	.	.	.	.	T	0.65974	0.2743	M	0.82923	2.615	0.28078	N	0.932303	D	0.61080	0.989	P	0.61070	0.883	T	0.60722	-0.7207	9	0.62326	D	0.03	.	12.0664	0.53590	0.0:0.1746:0.8254:0.0	rs440160;rs3948802	2731	P22105-3	.	R	2731	ENSP00000364393:P2731R;ENSP00000364396:P2731R	ENSP00000364393:P2731R	P	-	2	0	TNXB	32131881	0.037000	0.19845	0.989000	0.46669	0.396000	0.30629	0.607000	0.24209	2.317000	0.78254	0.456000	0.33151	CCG	G|0.931;C|0.069	0.069	strong		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		C	32023903	G	C	32023903	3	2	22	1	0	0	0	0	1	0	0	0	16343	1116	39	4	6605	4	TNXB	6	32023903	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9713	32023903	139091164	3596	8704										
TNXB	7148	hgsc.bcm.edu	37	chr6	32032689	32032689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggtctggctccaggccCgagatggtgaccccatcctc	12	14	1	2	rs35206129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32032689C>T	ENST00000375244.3	-	19	6951	c.6750G>A	c.(6748-6750)tcG>tcA	p.S2250S	TNXB_ENST00000375247.2_Silent_p.S2250S			P22105	TENX_HUMAN	tenascin XB	2322	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCAGGCCCGAGATGGTGA	0.612													C|||	18	0.00359425	0.0129	0.0014	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.0				p.S2250S		Atlas-SNP	.											.	TNXB	553	.	0			c.G6750A						PASS	.	C		11,2531		0,11,1260	49	55	53		6750	-9.6	0.7	6	dbSNP_126	53	0,5100		0,0,2550	no	coding-synonymous	TNXB	NM_019105.6		0,11,3810	TT,TC,CC		0.0,0.4327,0.1439		2250/4243	32032689	11,7631	1271	2550	3821	SO:0001819	synonymous_variant	7148	exon19			CAGGCCCGAGATG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6750G>A	6.37:g.32032689C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				C|0.995;T|0.005	0.005	strong		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32032689	C	T	32032689	2	4	22	1	0	0	0	0	0	0	0	1	16343	639	23	1		1	TNXB	6	32032689	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8786	32032689	139082378	3597	8705										
TNXB	7148	hgsc.bcm.edu	37	chr6	32032756	32032756	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcccgtccccattcttaAactggaccaagaaatggtca	8	13	2	1	rs3749960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32032756A>T	ENST00000375244.3	-	19	6884	c.6683T>A	c.(6682-6684)tTt>tAt	p.F2228Y	TNXB_ENST00000375247.2_Missense_Mutation_p.F2228Y			P22105	TENX_HUMAN	tenascin XB	2300	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCATTCTTAAACTGGACCAA	0.607													T|||	87	0.0173722	0.0136	0.0187	5008	,	,		17768	0.0556		0.0	False		,,,				2504	0.0				p.F2228Y		Atlas-SNP	.											.	TNXB	553	.	0			c.T6683A						PASS	.	T	TYR/PHE	12,2476		0,12,1232	27	31	30		6683	4.8	1	6	dbSNP_107	30	0,5060		0,0,2530	yes	missense	TNXB	NM_019105.6	22	0,12,3762	TT,TA,AA		0.0,0.4823,0.159	benign	2228/4243	32032756	12,7536	1244	2530	3774	SO:0001583	missense	7148	exon19			TTCTTAAACTGGA	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6683T>A	6.37:g.32032756A>T	ENSP00000364393:p.Phe2228Tyr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	126	65	0.515873	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		45	0.020604395604395604	10	0.02032520325203252	6	0.016574585635359115	29	0.050699300699300696	0	0.0	T	5.909	0.351823	0.11182	0.004823	0.0	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.48522	0.81;0.81	4.82	4.82	0.62117	.	0.000000	0.37715	N	0.001962	T	0.02083	0.0065	N	0.00033	-2.575	0.21579	N	0.99964	B	0.02656	0.0	B	0.04013	0.001	T	0.44019	-0.9355	10	0.02654	T	1	.	8.8957	0.35463	0.1666:0.0:0.0:0.8334	rs3749960;rs3749960	2228	P22105-3	.	Y	2228	ENSP00000364393:F2228Y;ENSP00000364396:F2228Y	ENSP00000364393:F2228Y	F	-	2	0	TNXB	32140734	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	3.024000	0.49674	0.860000	0.35481	-0.336000	0.08194	TTT	A|0.947;T|0.053	0.053	strong		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32032756	A	T	32032756	3	4	22	1	0	0	0	0	1	0	0	0	16343	14	1	5	8134	5	TNXB	6	32032756	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67	32032756	139082311	3598	8706										
TNXB	7148	hgsc.bcm.edu	37	chr6	32035634	32035634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgaagcggccctgggggacGgtccaggagaggctcagcga	18	11	1	1	rs143840297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32035634G>A	ENST00000375244.3	-	18	6549	c.6348C>T	c.(6346-6348)acC>acT	p.T2116T	TNXB_ENST00000375247.2_Silent_p.T2116T			P22105	TENX_HUMAN	tenascin XB	2188	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGGACGGTCCAGGAGA	0.677													G|||	89	0.0177716	0.0144	0.0187	5008	,	,		14419	0.0565		0.0	False		,,,				2504	0.0				p.T2116T		Atlas-SNP	.											TNXB_ENST00000375247,NS,carcinoma,-2,2	TNXB	553	2	0			c.C6348T						PASS	.	G		18,3658		0,18,1820	29	33	32		6348	-3.2	0.9	6	dbSNP_134	32	0,8082		0,0,4041	no	coding-synonymous	TNXB	NM_019105.6		0,18,5861	AA,AG,GG		0.0,0.4897,0.1531		2116/4243	32035634	18,11740	1838	4041	5879	SO:0001819	synonymous_variant	7148	exon18			GGGGACGGTCCAG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6348C>T	6.37:g.32035634G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	231	115	0.497835	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				G|0.987;A|0.013	0.013	weak		0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32035634	G	A	32035634	2	1	22	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32035634	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2878	32035634	139079433	3599	8707										
TNXB	7148	hgsc.bcm.edu	37	chr6	32041621	32041621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaactggccctcggggactGtccaggagaggcccacagag	14	13	0	2	rs6910390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32041621G>A	ENST00000375244.3	-	12	4685	c.4484C>T	c.(4483-4485)aCa>aTa	p.T1495I	TNXB_ENST00000375247.2_Missense_Mutation_p.T1495I			P22105	TENX_HUMAN	tenascin XB	1582	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCGGGGACTGTCCAGGAGAG	0.627													G|||	27	0.00539137	0.0159	0.0058	5008	,	,		13775	0.0		0.002	False		,,,				2504	0.0				p.T1495I		Atlas-SNP	.											.	TNXB	553	.	0			c.C4484T						PASS	.	G	ILE/THR	33,2523		1,31,1246	29	31	30		4484	1.5	0.1	6	dbSNP_116	30	30,5096		0,30,2533	yes	missense	TNXB	NM_019105.6	89	1,61,3779	AA,AG,GG		0.5853,1.2911,0.8201	benign	1495/4243	32041621	63,7619	1278	2563	3841	SO:0001583	missense	7148	exon12			GGGACTGTCCAGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4484C>T	6.37:g.32041621G>A	ENSP00000364393:p.Thr1495Ile	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	190	100	0.526316	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		18	0.008241758241758242	11	0.022357723577235773	3	0.008287292817679558	1	0.0017482517482517483	3	0.00395778364116095	G	4.859	0.159720	0.09287	0.012911	0.005853	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59083	0.29;0.29	5.46	1.54	0.23209	.	0.993930	0.08149	N	0.990366	T	0.44456	0.1294	M	0.82823	2.61	0.19945	N	0.999944	B	0.28552	0.215	B	0.36845	0.234	T	0.51934	-0.8642	10	0.38643	T	0.18	.	7.6751	0.28481	0.3741:0.0:0.6259:0.0	rs6910390	1495	P22105-3	.	I	1495	ENSP00000364393:T1495I;ENSP00000364396:T1495I	ENSP00000364393:T1495I	T	-	2	0	TNXB	32149599	0.384000	0.25164	0.076000	0.20297	0.007000	0.05969	0.499000	0.22546	-0.013000	0.14199	-1.178000	0.01721	ACA	G|0.992;A|0.008	0.008	strong		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32041621	G	A	32041621	3	1	22	1	0	0	0	0	1	0	0	0	16343	1377	48	2	10361	2	TNXB	6	32041621	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5987	32041621	139073446	3600	8708										
TNXB	7148	hgsc.bcm.edu	37	chr6	32046832	32046832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacgcccacggcggacacCgggcccacgcgctgcccctc	12	21	1	0	rs61998180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32046832C>T	ENST00000375244.3	-	11	4554	c.4353G>A	c.(4351-4353)ccG>ccA	p.P1451P	TNXB_ENST00000375247.2_Silent_p.P1451P|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1538					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P1538P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCGGACACCGGGCCCACGC	0.662													C|||	18	0.00359425	0.0129	0.0014	5008	,	,		15860	0.0		0.0	False		,,,				2504	0.0				p.P1451P		Atlas-SNP	.											TNXB_ENST00000375247,NS,carcinoma,0,1	TNXB	553	1	1	Substitution - coding silent(1)	breast(1)	c.G4353A						PASS	.	C		11,2573		0,11,1281	38	43	41		4353	-2.3	0.8	6	dbSNP_129	41	0,5136		0,0,2568	no	coding-synonymous	TNXB	NM_019105.6		0,11,3849	TT,TC,CC		0.0,0.4257,0.1425		1451/4243	32046832	11,7709	1292	2568	3860	SO:0001819	synonymous_variant	7148	exon11			GGACACCGGGCCC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4353G>A	6.37:g.32046832C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	137	71	0.518248	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				C|0.987;T|0.013	0.013	weak		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32046832	C	T	32046832	2	4	22	1	0	0	0	0	0	0	0	1	16343	639	23	1		1	TNXB	6	32046832	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5211	32046832	139068235	3601	8709										
ATF6B	1388	hgsc.bcm.edu	37	chr6	32093922	32093922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcagaggtggggataacGttgatctggacggtttcaaa	13	6	4	2	rs204894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32093922G>A	ENST00000375203.3	-	5	482	c.450C>T	c.(448-450)aaC>aaT	p.N150N	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Silent_p.N147N	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	150					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGGGATAACGTTGATCTGGA	0.512													G|||	244	0.048722	0.115	0.0648	5008	,	,		15085	0.001		0.0457	False		,,,				2504	0.0				p.N150N		Atlas-SNP	.											.	ATF6B	40	.	0			c.C450T						PASS	.	G	,	453,3953	216.4+/-235.1	21,411,1771	157	137	144		441,450	-0.3	1	6	dbSNP_79	144	404,8196	127.2+/-185.5	7,390,3903	yes	coding-synonymous,coding-synonymous	ATF6B	NM_001136153.1,NM_004381.4	,	28,801,5674	AA,AG,GG		4.6977,10.2814,6.5893	,	147/701,150/704	32093922	857,12149	2203	4300	6503	SO:0001819	synonymous_variant	1388	exon5			GATAACGTTGATC		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.450C>T	6.37:g.32093922G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	132	70	0.530303	NM_004381	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	CCDS4737.1																																																																																			G|0.945;A|0.055	0.055	strong		0.512	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			A	32093922	G	A	32093922	2	1	22	1	0	0	0	0	0	0	0	1	1085	1136	40	1		1	ATF6B	6	32093922	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47090	32093922	139021145	3602	8710										
FKBPL	63943	hgsc.bcm.edu	37	chr6	32096528	32096528	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccaaacatcttgcgcaGaccctgagccagccctgcat	8	16	2	2	rs61747172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32096528G>A	ENST00000375156.3	-	2	1300	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	344					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ATCTTGCGCAGACCCTGAGCC	0.537													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		19239	0.0		0.0	False		,,,				2504	0.0				p.L344L		Atlas-SNP	.											.	FKBPL	25	.	0			c.C1030T						PASS	.	G		14,4392	21.2+/-45.6	0,14,2189	191	203	199		1030	3.1	0.9	6	dbSNP_129	199	0,8600		0,0,4300	no	coding-synonymous	FKBPL	NM_022110.3		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		344/350	32096528	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	63943	exon2			TGCGCAGACCCTG	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.1030C>T	6.37:g.32096528G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	160	83	0.51875	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Silent	SNP	ENST00000375156.3	37	CCDS4738.1																																																																																			G|0.998;A|0.002	0.002	strong		0.537	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			A	32096528	G	A	32096528	2	1	22	1	0	0	0	0	0	0	0	1	5916	933	33	2		2	FKBPL	6	32096528	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2606	32096528	139018539	3603	8711										
FKBPL	63943	hgsc.bcm.edu	37	chr6	32097089	32097089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatttctctatgagctcccCccaagtttcctccctccatg	5	17	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32097089C>T	ENST00000375156.3	-	2	739	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	157					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ATGAGCTCCCCCCAAGTTTCC	0.592																																					p.G157R		Atlas-SNP	.											.	FKBPL	25	.	0			c.G469A						PASS	.						188	201	196					6																	32097089		2203	4300	6503	SO:0001583	missense	63943	exon2			GCTCCCCCCAAGT	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.469G>A	6.37:g.32097089C>T	ENSP00000364298:p.Gly157Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	94	51	0.542553	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686625	0.68157	.	.	ENSG00000204315	ENST00000375156	T	0.80994	-1.44	5.23	3.46	0.39613	.	0.000000	0.42548	D	0.000691	T	0.47820	0.1466	N	0.24115	0.695	0.38007	D	0.934418	B	0.32829	0.386	B	0.29353	0.101	T	0.42172	-0.9467	10	0.23891	T	0.37	-13.8519	9.3205	0.37962	0.0:0.8274:0.0:0.1726	.	157	Q9UIM3	FKBPL_HUMAN	R	157	ENSP00000364298:G157R	ENSP00000364298:G157R	G	-	1	0	FKBPL	32205067	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.754000	0.47532	0.793000	0.33875	0.462000	0.41574	GGG	.	.	none		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			T	32097089	C	T	32097089	3	4	22	1	0	0	0	0	1	0	0	0	5916	623	22	2	584	2	FKBPL	6	32097089	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	561	32097089	139017978	3604	8712										
AGPAT1	10554	hgsc.bcm.edu	37	chr6	32139186	32139186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaagtacttggcactggGgctgcagaaccacagggtgg	16	8	0	2	rs11964847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32139186G>A	ENST00000395499.1	-	2	667	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	AGPAT1_ENST00000375104.2_Missense_Mutation_p.P30S|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.P30S|AGPAT1_ENST00000375107.3_Missense_Mutation_p.P30S|AGPAT1_ENST00000336984.6_Missense_Mutation_p.P30S|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000412465.2_5'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.P30S			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	30			P -> S (in dbSNP:rs11964847).		CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TTGGCACTGGGGCTGCAGAAC	0.597													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19885	0.0		0.0	False		,,,				2504	0.0				p.P30S		Atlas-SNP	.											AGPAT1,NS,carcinoma,+1,1	AGPAT1	22	1	0			c.C88T						PASS	.	G	SER/PRO,SER/PRO	15,3007		0,15,1496	90	69	76		88,88	2	1	6	dbSNP_120	76	0,5418		0,0,2709	yes	missense,missense	AGPAT1	NM_006411.3,NM_032741.4	74,74	0,15,4205	AA,AG,GG		0.0,0.4964,0.1777	benign,benign	30/284,30/284	32139186	15,8425	1511	2709	4220	SO:0001583	missense	10554	exon2			CACTGGGGCTGCA	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.88C>T	6.37:g.32139186G>A	ENSP00000378877:p.Pro30Ser	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	133	65	0.488722	NM_006411	A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	CCDS4744.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	4.129	0.022157	0.08006	0.004964	0.0	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.11	1.98	0.26296	.	0.468866	0.25546	N	0.029922	T	0.04092	0.0114	N	0.01705	-0.755	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	10	0.09590	T	0.72	-13.782	2.9511	0.05862	0.1065:0.3516:0.3918:0.1502	rs11964847;rs11964847	30	Q99943	PLCA_HUMAN	S	30	ENSP00000378874:P30S;ENSP00000364248:P30S;ENSP00000378877:P30S;ENSP00000364245:P30S;ENSP00000378875:P30S;ENSP00000337463:P30S	ENSP00000337463:P30S	P	-	1	0	AGPAT1	32247164	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	0.297000	0.19101	1.132000	0.42129	0.561000	0.74099	CCC	G|0.995;A|0.005	0.005	strong		0.597	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		A	32139186	G	A	32139186	3	1	22	1	0	0	0	0	1	0	0	0	386	1232	43	2	787	2	AGPAT1	6	32139186	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42097	32139186	138975881	3605	8713										
NOTCH4	4855	hgsc.bcm.edu	37	chr6	32184785	32184785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaaggcagctggctccaaCgggacatgggtcactcaggc	13	12	3	0	rs11963697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32184785C>G	ENST00000375023.3	-	11	1936	c.1798G>C	c.(1798-1800)Gtt>Ctt	p.V600L	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	600	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGCTCCAACGGGACATGGG	0.567													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		19616	0.0		0.0	False		,,,				2504	0.0				p.V600L		Atlas-SNP	.											.	NOTCH4	201	.	0			c.G1798C						PASS	.	C	LEU/VAL	14,3008		0,14,1497	120	92	102		1798	-7.7	0	6	dbSNP_120	102	0,5418		0,0,2709	yes	missense	NOTCH4	NM_004557.3	32	0,14,4206	GG,GC,CC		0.0,0.4633,0.1659	benign	600/2004	32184785	14,8426	1511	2709	4220	SO:0001583	missense	4855	exon11			CTCCAACGGGACA		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1798G>C	6.37:g.32184785C>G	ENSP00000364163:p.Val600Leu	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	210	95	0.452381	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	5.110	0.205944	0.09704	0.004633	0.0	ENSG00000204301	ENST00000375023	D	0.92299	-3.01	4.07	-7.74	0.01241	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.351570	0.05567	N	0.570461	T	0.75324	0.3834	L	0.29908	0.895	0.09310	N	1	B;B	0.21606	0.058;0.006	B;B	0.31191	0.125;0.003	T	0.72168	-0.4372	10	0.72032	D	0.01	.	7.0248	0.24934	0.0:0.3431:0.3629:0.294	rs11963697;rs11963697	600;600	Q6P3V5;Q99466	.;NOTC4_HUMAN	L	600	ENSP00000364163:V600L	ENSP00000364163:V600L	V	-	1	0	NOTCH4	32292763	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-2.805000	0.00758	-1.167000	0.02779	-0.251000	0.11542	GTT	C|0.989;G|0.011;T|0.000	0.011	strong		0.567	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			G	32184785	C	G	32184785	3	3	22	1	0	0	0	0	1	0	0	0	10551	536	19	4	4293	4	NOTCH4	6	32184785	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45599	32184785	138930282	3606	8714										
NOTCH4	4855	hgsc.bcm.edu	37	chr6	32190484	32190484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggagccctaggggagcGggaagcagggcttggcagct	20	9	0	0	rs8192569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32190484G>A	ENST00000375023.3	-	3	393	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	85	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTAGGGGAGCGGGAAGCAGGG	0.627													G|||	1077	0.215056	0.3306	0.1412	5008	,	,		18266	0.2371		0.1024	False		,,,				2504	0.2045				p.P85P		Atlas-SNP	.											.	NOTCH4	201	.	0			c.C255T						PASS	.	G		1251,3155	428.7+/-342.0	182,887,1134	61	65	64		255	0	0.1	6	dbSNP_117	64	771,7829	183.0+/-231.3	49,673,3578	no	coding-synonymous	NOTCH4	NM_004557.3		231,1560,4712	AA,AG,GG		8.9651,28.3931,15.5467		85/2004	32190484	2022,10984	2203	4300	6503	SO:0001819	synonymous_variant	4855	exon3			GGGAGCGGGAAGC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.255C>T	6.37:g.32190484G>A		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																			G|0.838;A|0.162	0.162	strong		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32190484	G	A	32190484	2	1	22	1	0	0	0	0	0	0	0	1	10551	1103	39	1		1	NOTCH4	6	32190484	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5699	32190484	138924583	3607	8715										
BTNL2	56244	hgsc.bcm.edu	37	chr6	32370859	32370859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggatgcgatgctcagacaCggccagcagcttctctcccc	10	15	2	1	rs9461742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32370859C>T	ENST00000374993.1	-	3	561	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Splice_Site_p.V148I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V188M|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	188	Ig-like V-type 2.		V -> M (in dbSNP:rs9461742).			integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGCTCAGACACGGCCAGCAGC	0.587													C|||	29	0.00579073	0.0182	0.0058	5008	,	,		19224	0.0		0.0	False		,,,				2504	0.001				p.V188M		Atlas-SNP	.											.	BTNL2	50	.	0			c.G562A						PASS	.	C	MET/VAL	39,2983		0,39,1472	85	79	81		562	-8.9	0	6	dbSNP_119	81	4,5412		0,4,2704	no	missense	BTNL2	NM_019602.1	21	0,43,4176	TT,TC,CC		0.0739,1.2905,0.5096	probably-damaging	188/456	32370859	43,8395	1511	2708	4219	SO:0001583	missense	56244	exon3			CAGACACGGCCAG	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.562G>A	6.37:g.32370859C>T	ENSP00000364132:p.Val188Met	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	194	92	0.474227	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		14|14	0.00641025641025641|0.00641025641025641	12|12	0.024390243902439025|0.024390243902439025	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.531|8.531	0.871030|0.871030	0.17322|0.17322	0.012905|0.012905	7.39E-4|7.39E-4	ENSG00000204290|ENSG00000204290	ENST00000374995|ENST00000468270;ENST00000374993	T|T	0.02177|0.75704	4.41|-0.96	4.44|4.44	-8.89|-8.89	0.00785|0.00785	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.023030|2.023030	0.02292|0.02292	N|N	0.070382|0.070382	T|T	0.43787|0.43787	0.1263|0.1263	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P	.|0.50156	.|0.932	.|P	.|0.45232	.|0.474	T|T	0.61926|0.61926	-0.6962|-0.6962	8|10	0.27785|0.35671	T|T	0.31|0.21	.|.	3.5087|3.5087	0.07700|0.07700	0.2462:0.1048:0.4451:0.2038|0.2462:0.1048:0.4451:0.2038	rs9461742;rs9461742|rs9461742;rs9461742	.|188	.|Q9UIR0	.|BTNL2_HUMAN	I|M	148|188	ENSP00000364134:V148I|ENSP00000364132:V188M	ENSP00000364134:V148I|ENSP00000364132:V188M	V|V	-|-	1|1	0|0	BTNL2|BTNL2	32478837|32478837	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-8.769000|-8.769000	0.00017|0.00017	-2.865000|-2.865000	0.00325|0.00325	-0.172000|-0.172000	0.13284|0.13284	GTT|GTG	C|0.992;T|0.008	0.008	strong		0.587	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		T	32370859	C	T	32370859	3	4	22	1	0	0	0	0	1	0	0	0	1565	536	19	1	821	1	BTNL2	6	32370859	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180375	32370859	138744208	3608	8716										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487169	32487169	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattccactgtgagagggctCgtcacgcttgggtgctccac					rs143127183	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225				p.T210T		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,0,1	HLA-DRB5	31	1	0			c.G630A						scavenged	.						73	83	80					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127	exon3			AGGGCTCGTCACG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.630G>A	6.37:g.32487169C>T		Somatic	50	6	0.12		WXS	Illumina HiSeq	Phase_I	75	11	0.146667	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			C|0.100;T|0.900	0.900	weak		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487169	C	T	32487169	2	4	22	1	0	0	0	0	0	0	0	1	7209	871	31	1		1	HLA-DRB5	6	32487169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	116310	32487169	138627898	3609	8717	167	2								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487172	32487172	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactgtgagagggctcgtCacgcttgggtgctccacttg					rs72508430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32487172C>T	ENST00000374975.3	-	3	689	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GAGGGCTCGTCACGCTTGGGT	0.488													C|||	1669	0.333267	0.4554	0.281	5008	,	,		12303	0.2966		0.2982	False		,,,				2504	0.2791				p.V209V		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,-2,1	HLA-DRB5	31	1	0			c.G627A						scavenged	.						73	83	80					6																	32487172		1892	3753	5645	SO:0001819	synonymous_variant	3127	exon3			GCTCGTCACGCTT		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.627G>A	6.37:g.32487172C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	75	64	0.853333	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			C|0.764;T|0.235	0.235	strong		0.488	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487172	C	T	32487172	2	4	22	1	0	0	0	0	0	0	0	1	7209	813	29	2		2	HLA-DRB5	6	32487172	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	32487172	138627895	3610	8718	167	2								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489707	32489707	+	Silent	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgcactgtgaagctctcAccaaccccgtagttgtgtct					rs41559714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32489707A>C	ENST00000374975.3	-	2	407	c.345T>G	c.(343-345)ggT>ggG	p.G115G		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAAGCTCTCACCAACCCCGT	0.622													A|||	1201	0.239816	0.2247	0.2911	5008	,	,		5491	0.2242		0.2416	False		,,,				2504	0.2382				p.G115G		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.T345G						PASS	.						39	32	34					6																	32489707		2154	4218	6372	SO:0001819	synonymous_variant	3127	exon2			GCTCTCACCAACC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.345T>G	6.37:g.32489707A>C		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	35	20	0.571429	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			.	.	weak		0.622	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489707	A	C	32489707	2	2	22	1	0	0	0	0	0	0	0	1	7209	146	6	5		5	HLA-DRB5	6	32489707	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2535	32489707	138625360	3611	8719	168	2								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489708	32489708	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcactgtgaagctctcaCcaaccccgtagttgtgtctg					rs41556512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32489708C>A	ENST00000374975.3	-	2	406	c.344G>T	c.(343-345)gGt>gTt	p.G115V		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GAAGCTCTCACCAACCCCGTA	0.622													g|||	1201	0.239816	0.2247	0.2911	5008	,	,		5472	0.2242		0.2416	False		,,,				2504	0.2382				p.G115V		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.G344T						PASS	.						38	32	34					6																	32489708		2155	4217	6372	SO:0001583	missense	3127	exon2			CTCTCACCAACCC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.344G>T	6.37:g.32489708C>A	ENSP00000364114:p.Gly115Val	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	37	20	0.540541	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.829	-0.243055	0.05906	.	.	ENSG00000198502	ENST00000374975	T	0.00231	8.49	4.6	-8.98	0.00754	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	135.341000	0.00166	N	0.000000	T	0.00012	0.0000	N	0.05510	-0.035	0.09310	N	1	B;B	0.20459	0.045;0.0	B;B	0.33890	0.172;0.003	T	0.29671	-1.0004	10	0.05833	T	0.94	.	0.8795	0.01231	0.351:0.2704:0.2004:0.1782	rs41556512	42;115	Q29973;Q30154	.;DRB5_HUMAN	V	115	ENSP00000364114:G115V	ENSP00000364114:G115V	G	-	2	0	HLA-DRB5	32597686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.921000	0.00049	-1.717000	0.01385	-4.769000	0.00003	GGT	.	.	weak		0.622	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		A	32489708	C	A	32489708	3	1	22	1	0	0	0	0	1	0	0	0	7209	507	18	4	476	4	HLA-DRB5	6	32489708	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	32489708	138625359	3612	8720	168	2								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32548026	32548026	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggattaaaaggtattacctGttggctgaagtccagagtgt	12	5	0	2	rs9269744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32548026G>C	ENST00000360004.5	-	5	890	c.785C>G	c.(784-786)aCa>aGa	p.T262R		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	262			T -> R (in dbSNP:rs9269744).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGTATTACCTGTTGGCTGAAG	0.453										Multiple Myeloma(14;0.17)																											p.T262R		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.C785G						PASS	.						32	37	35					6																	32548026		2089	4081	6170	SO:0001583	missense	3123	exon5			TTACCTGTTGGCT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.785C>G	6.37:g.32548026G>C	ENSP00000353099:p.Thr262Arg	Somatic	431	0	0		WXS	Illumina HiSeq	Phase_I	330	61	0.184848	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.403780	0.42613	.	.	ENSG00000196126	ENST00000360004	T	0.00628	6.11	3.96	3.06	0.35304	.	0.521505	0.16081	N	0.230501	T	0.01287	0.0042	.	.	.	0.80722	D	1	B;B;D	0.89917	0.005;0.001;1.0	B;B;D	0.85130	0.012;0.012;0.997	T	0.62732	-0.6792	9	0.52906	T	0.07	.	9.6894	0.40118	0.0:0.213:0.787:0.0	rs9269744;rs17880393;rs33909504	262;262;262	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	R	262	ENSP00000353099:T262R	ENSP00000353099:T262R	T	-	2	0	HLA-DRB1	32656004	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	2.243000	0.43115	0.736000	0.32559	0.551000	0.68910	ACA	G|0.500;C|0.500	0.500	strong		0.453	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32548026	G	C	32548026	3	2	22	1	0	0	0	0	1	0	0	0	7208	1377	48	4	23	4	HLA-DRB1	6	32548026	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58318	32548026	138567041	3613	8721										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32548534	32548534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcctcacctttctgattcCtgaagtagatgaacagcccg	8	13	2	4	rs71547382		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32548534C>T	ENST00000360004.5	-	4	857	c.752G>A	c.(751-753)aGg>aAg	p.R251K		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTTCTGATTCCTGAAGTAGAT	0.537										Multiple Myeloma(14;0.17)																											p.R251K		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.G752A						PASS	.																																			SO:0001583	missense	3123	exon4			TGATTCCTGAAGT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.752G>A	6.37:g.32548534C>T	ENSP00000353099:p.Arg251Lys	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	439	28	0.0637813	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976489	0.34848	.	.	ENSG00000196126	ENST00000360004	T	0.00635	6.06	3.98	1.66	0.24008	.	0.334220	0.32578	N	0.005907	T	0.00241	0.0007	L	0.33710	1.025	0.28819	N	0.897785	B;B;B	0.18166	0.026;0.026;0.0	B;B;B	0.17979	0.02;0.02;0.001	T	0.44757	-0.9307	10	0.38643	T	0.18	.	6.6584	0.23000	0.0:0.6946:0.0:0.3054	.	251;251;251	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	K	251	ENSP00000353099:R251K	ENSP00000353099:R251K	R	-	2	0	HLA-DRB1	32656512	0.000000	0.05858	0.929000	0.37066	0.845000	0.48019	-0.186000	0.09670	0.802000	0.34089	0.453000	0.30009	AGG	C|1.000;|0.000	.	weak		0.537	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548534	C	T	32548534	3	4	22	1	0	0	0	0	1	0	0	0	7208	681	24	2	60	2	HLA-DRB1	6	32548534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	508	32548534	138566533	3614	8722										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32548554	32548554	+	Silent	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagtagatgaacagcccGgccccaaggaagagcaggcc					rs3830126		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32548554G>C	ENST00000360004.5	-	4	837	c.732C>G	c.(730-732)gcC>gcG	p.A244A		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGAACAGCCCGGCCCCAAGGA	0.557										Multiple Myeloma(14;0.17)																											p.A244A		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.C732G						PASS	.						89	103	98					6																	32548554		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon4			CAGCCCGGCCCCA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.732C>G	6.37:g.32548554G>C		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	483	36	0.0745342	NM_002124	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			.	.	alt		0.557	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32548554	G	C	32548554	2	2	22	1	0	0	0	0	0	0	0	1	7208	1103	39	4		4	HLA-DRB1	6	32548554	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	32548554	138566513	3615	8723	169	2								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32548556	32548556	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtagatgaacagcccggCcccaaggaagagcaggccca					rs3830125		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32548556C>T	ENST00000360004.5	-	4	835	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AACAGCCCGGCCCCAAGGAAG	0.552										Multiple Myeloma(14;0.17)																											p.A244T		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.G730A						PASS	.						90	104	99					6																	32548556		1511	2709	4220	SO:0001583	missense	3123	exon4			GCCCGGCCCCAAG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.730G>A	6.37:g.32548556C>T	ENSP00000353099:p.Ala244Thr	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	476	37	0.0777311	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	6.616	0.482155	0.12581	.	.	ENSG00000196126	ENST00000360004	T	0.00730	5.77	3.98	-0.294	0.12831	.	1.209560	0.05711	N	0.596048	T	0.00967	0.0032	L	0.54323	1.7	0.09310	N	1	B;B;D	0.76494	0.009;0.005;0.999	B;B;D	0.81914	0.03;0.014;0.995	T	0.46176	-0.9210	10	0.62326	D	0.03	.	4.2536	0.10707	0.1362:0.5351:0.2335:0.0951	rs3830125;rs17849963	244;244;244	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	T	244	ENSP00000353099:A244T	ENSP00000353099:A244T	A	-	1	0	HLA-DRB1	32656534	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.150000	0.16263	-0.354000	0.08212	-0.397000	0.06425	GCC	.	.	weak		0.552	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548556	C	T	32548556	3	4	22	1	0	0	0	0	1	0	0	0	7208	739	26	2	82	2	HLA-DRB1	6	32548556	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	32548556	138566511	3616	8724	169	2								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32549464	32549464	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccattctggatcaggccTgtggacaccatcccagcctt	8	15	3	0	rs78767604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32549464T>C	ENST00000360004.5	-	3	627	c.522A>G	c.(520-522)acA>acG	p.T174T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	174	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGATCAGGCCTGTGGACACCA	0.547										Multiple Myeloma(14;0.17)																											p.T174T		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.A522G						PASS	.						130	149	142					6																	32549464		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon3			CAGGCCTGTGGAC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.522A>G	6.37:g.32549464T>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	340	92	0.270588	NM_002124	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			T|0.855;C|0.145	0.145	strong		0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32549464	T	C	32549464	2	2	22	1	0	0	0	0	0	0	0	1	7208	1567	55	3		3	HLA-DRB1	6	32549464	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	908	32549464	138565603	3617	8725										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32549563	32549563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagcagaccaggaggttGtggtgctgcaggggctgggt	19	7	0	2	rs77689370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32549563G>A	ENST00000360004.5	-	3	528	c.423C>T	c.(421-423)caC>caT	p.H141H		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	141	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCAGGAGGTTGTGGTGCTGCA	0.517										Multiple Myeloma(14;0.17)																											p.H141H		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.C423T						PASS	.						92	112	105					6																	32549563		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon3			GAGGTTGTGGTGC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.423C>T	6.37:g.32549563G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	243	80	0.329218	NM_002124	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			A|0.051;C|0.002;G|0.947	0.051	strong		0.517	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32549563	G	A	32549563	2	1	22	1	0	0	0	0	0	0	0	1	7208	1368	48	2		2	HLA-DRB1	6	32549563	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99	32549563	138565504	3618	8726										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32549589	32549589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaggggctgggtctttgAaggatatacagtcaccttag	13	8	2	1	rs2308760		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32549589A>C	ENST00000360004.5	-	3	502	c.397T>G	c.(397-399)Tca>Gca	p.S133A		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGGGTCTTTGAAGGATATACA	0.512										Multiple Myeloma(14;0.17)																											p.S133A		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.T397G						PASS	.						55	69	64					6																	32549589		1511	2709	4220	SO:0001583	missense	3123	exon3			TCTTTGAAGGATA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.397T>G	6.37:g.32549589A>C	ENSP00000353099:p.Ser133Ala	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	172	46	0.267442	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.838831	0.00068	.	.	ENSG00000196126	ENST00000360004	T	0.02890	4.12	3.87	-6.35	0.01975	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.987485	0.08278	N	0.970401	T	0.00328	0.0010	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.02654	T	1	.	4.1985	0.10455	0.356:0.3291:0.0:0.3149	rs17433947	133	P01911	2B1F_HUMAN	A	133	ENSP00000353099:S133A	ENSP00000353099:S133A	S	-	1	0	HLA-DRB1	32657567	0.000000	0.05858	0.080000	0.20451	0.022000	0.10575	-2.577000	0.00909	-1.679000	0.01452	-2.825000	0.00108	TCA	.	.	weak		0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32549589	A	C	32549589	3	2	22	1	0	0	0	0	1	0	0	0	7208	246	9	5	419	5	HLA-DRB1	6	32549589	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26	32549589	138565478	3619	8727										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32551948	32551948	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcagtaggtgtccaccGcggcccgcgcctgctccagg					rs67476479|rs17886882		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32551948G>A	ENST00000360004.5	-	2	413	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	103	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)		p.A103fs*26(2)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGTGTCCACCGCGGCCCGCGC	0.682										Multiple Myeloma(14;0.17)																											p.A103V		Atlas-SNP	.											HLA-DRB1,brain,glioma,0,2	HLA-DRB1	41	2	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.C308T	GRCh37	CX045849	HLA-DRB1	X	rs17886882	scavenged	.						26	27	26					6																	32551948		2106	4192	6298	SO:0001583	missense	3123	exon2			TCCACCGCGGCCC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.308C>T	6.37:g.32551948G>A	ENSP00000353099:p.Ala103Val	Somatic	31	4	0.129032		WXS	Illumina HiSeq	Phase_I	23	11	0.478261	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	9.035	0.988355	0.18966	.	.	ENSG00000196126	ENST00000360004	T	0.00277	8.34	3.52	-4.93	0.03066	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.651270	0.02020	N	0.047686	T	0.00039	0.0001	N	0.02379	-0.575	0.09310	N	1	B	0.31274	0.317	B	0.22152	0.038	T	0.35822	-0.9773	10	0.48119	T	0.1	.	10.1847	0.42991	0.0:0.102:0.2902:0.6078	rs17886882;rs28724091	103	P01911	2B1F_HUMAN	V	103	ENSP00000353099:A103V	ENSP00000353099:A103V	A	-	2	0	HLA-DRB1	32659926	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-3.748000	0.00376	-1.340000	0.02227	-3.004000	0.00076	GCG	.	.	weak		0.682	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32551948	G	A	32551948	3	1	22	1	0	0	0	0	1	0	0	0	7208	1087	38	1	512	1	HLA-DRB1	6	32551948	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2359	32551948	138563119	3620	8728	170	2								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32551949	32551949	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcagtaggtgtccaccgCggcccgcgcctgctccagga					rs16822805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32551949C>G	ENST00000360004.5	-	2	412	c.307G>C	c.(307-309)Gcg>Ccg	p.A103P		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	103	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTGTCCACCGCGGCCCGCGCC	0.682										Multiple Myeloma(14;0.17)																											p.A103P		Atlas-SNP	.											HLA-DRB1,brain,glioma,+1,2	HLA-DRB1	41	2	0			c.G307C						scavenged	.						26	27	27					6																	32551949		2139	4247	6386	SO:0001583	missense	3123	exon2			CCACCGCGGCCCG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.307G>C	6.37:g.32551949C>G	ENSP00000353099:p.Ala103Pro	Somatic	31	4	0.129032		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.344005	0.24339	.	.	ENSG00000196126	ENST00000360004	T	0.00289	8.28	3.52	0.631	0.17699	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.651270	0.02020	N	0.047686	T	0.00039	0.0001	N	0.16743	0.435	0.09310	N	1	B	0.29115	0.233	B	0.34824	0.19	T	0.22591	-1.0212	10	0.52906	T	0.07	.	3.4895	0.07632	0.1726:0.559:0.1675:0.1009	rs16822805;rs17878887;rs28993506;rs36102664	103	P01911	2B1F_HUMAN	P	103	ENSP00000353099:A103P	ENSP00000353099:A103P	A	-	1	0	HLA-DRB1	32659927	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-6.420000	0.00066	0.007000	0.14760	-1.585000	0.00851	GCG	G|0.114;C|0.886	0.114	strong		0.682	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32551949	C	G	32551949	3	3	22	1	0	0	0	0	1	0	0	0	7208	768	27	4	513	4	HLA-DRB1	6	32551949	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	32551949	138563118	3621	8729	170	2								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32552060	32552060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgctgtcgaagcgcacggActcctcctggttatagaagt	12	11	0	1	rs16822820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32552060A>T	ENST00000360004.5	-	2	301	c.196T>A	c.(196-198)Tcc>Acc	p.S66T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	66	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AAGCGCACGGACTCCTCCTGG	0.602										Multiple Myeloma(14;0.17)			A|||	876	0.17492	0.2284	0.1888	5008	,	,		9661	0.0813		0.1938	False		,,,				2504	0.1697				p.S66T		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.T196A						PASS	.						36	35	36					6																	32552060		2191	4284	6475	SO:0001583	missense	3123	exon2			GCACGGACTCCTC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.196T>A	6.37:g.32552060A>T	ENSP00000353099:p.Ser66Thr	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	82	28	0.341463	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	1.398	-0.578994	0.03854	.	.	ENSG00000196126	ENST00000360004	T	0.00249	8.44	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	3.581920	0.00597	N	0.000377	T	0.00039	0.0001	N	0.13371	0.34	0.80722	P	0.0	B	0.09022	0.002	B	0.10450	0.005	T	0.50074	-0.8870	9	0.49607	T	0.09	.	1.7273	0.02925	0.1198:0.2542:0.2155:0.4106	rs16822820;rs17881836	66	P01911	2B1F_HUMAN	T	66	ENSP00000353099:S66T	ENSP00000353099:S66T	S	-	1	0	HLA-DRB1	32660038	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.680000	0.01939	-5.225000	0.00019	-3.146000	0.00059	TCC	T|0.164;C|0.002;A|0.834	0.164	strong		0.602	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32552060	A	T	32552060	3	4	22	1	0	0	0	0	1	0	0	0	7208	275	10	5	624	5	HLA-DRB1	6	32552060	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111	32552060	138563007	3622	8730										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32552075	32552075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggactcctcctggttatAgaagtatctgtccaggaacc	9	12	1	1	rs1064664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32552075A>G	ENST00000360004.5	-	2	286	c.181T>C	c.(181-183)Tat>Cat	p.Y61H		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	61	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TCCTGGTTATAGAAGTATCTG	0.602										Multiple Myeloma(14;0.17)			A|||	1550	0.309505	0.3563	0.2536	5008	,	,		8929	0.3105		0.2753	False		,,,				2504	0.32				p.Y61H		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.T181C						PASS	.	A	HIS/TYR	1387,2991		280,827,1082	33	32	32		181	-2.2	0	6	dbSNP_86	32	2316,6222		443,1430,2396	no	missense	HLA-DRB1	NM_002124.3	83	723,2257,3478	GG,GA,AA		27.1258,31.6811,28.6699		61/267	32552075	3703,9213	2189	4269	6458	SO:0001583	missense	3123	exon2			GGTTATAGAAGTA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.181T>C	6.37:g.32552075A>G	ENSP00000353099:p.Tyr61His	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	72	23	0.319444	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	781	0.3576007326007326	226	0.45934959349593496	123	0.3397790055248619	185	0.32342657342657344	247	0.3258575197889182	.	5.967	0.362360	0.11296	0.316811	0.271258	ENSG00000196126	ENST00000360004	T	0.00468	7.22	3.52	-2.17	0.07059	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.345489	0.31257	N	0.007971	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.17465	0.022	B	0.32465	0.146	T	0.18524	-1.0334	8	0.29301	T	0.29	.	8.5659	0.33538	0.699:0.0:0.301:0.0	rs1064664;rs3205646;rs3208327;rs9269949;rs16822554;rs17879673;rs33909544	61	P01911	2B1F_HUMAN	H	61	ENSP00000353099:Y61H	ENSP00000353099:Y61H	Y	-	1	0	HLA-DRB1	32660053	0.263000	0.24083	0.001000	0.08648	0.002000	0.02628	0.001000	0.13038	-0.511000	0.06514	-1.289000	0.01358	TAT	G|0.352;A|0.648	0.352	strong		0.602	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32552075	A	G	32552075	3	3	22	1	0	0	0	0	1	0	0	0	7208	420	15	3	639	3	HLA-DRB1	6	32552075	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15	32552075	138562992	3623	8731										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32552092	32552092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatagaagtatctgtccaggAaccgcacccgctccgtccca	8	15	1	1	rs16822516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32552092A>T	ENST00000360004.5	-	2	269	c.164T>A	c.(163-165)tTc>tAc	p.F55Y		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	55	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TCTGTCCAGGAACCGCACCCG	0.627										Multiple Myeloma(14;0.17)			A|||	1450	0.289537	0.2511	0.3501	5008	,	,		8224	0.2609		0.3091	False		,,,				2504	0.3078				p.F55Y		Atlas-SNP	.											.	HLA-DRB1	41	.	0			c.T164A						PASS	.						30	28	29					6																	32552092		2180	4243	6423	SO:0001583	missense	3123	exon2			TCCAGGAACCGCA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.164T>A	6.37:g.32552092A>T	ENSP00000353099:p.Phe55Tyr	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	471	0.21565934065934067	116	0.23577235772357724	88	0.2430939226519337	90	0.15734265734265734	177	0.23350923482849603	.	3.972	-0.008199	0.07773	.	.	ENSG00000196126	ENST00000360004	T	0.00357	7.89	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.314130	0.04757	N	0.425694	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.09314	-1.0680	8	0.22109	T	0.4	.	9.1989	0.37246	0.1654:0.1127:0.0:0.7219	rs16822516;rs17881894	55	P01911	2B1F_HUMAN	Y	55	ENSP00000353099:F55Y	ENSP00000353099:F55Y	F	-	2	0	HLA-DRB1	32660070	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.670000	0.01956	-2.006000	0.00958	-3.056000	0.00068	TTC	A|0.778;T|0.222	0.222	strong		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32552092	A	T	32552092	3	4	22	1	0	0	0	0	1	0	0	0	7208	246	9	5	656	5	HLA-DRB1	6	32552092	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17	32552092	138562975	3624	8732										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557477	32557477	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccatcagtgtcactgtcaGcgctgtcatgcaggagcctc					rs150644773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32557477G>A	ENST00000360004.5	-	1	148	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	15					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTCACTGTCAGCGCTGTCATG	0.592										Multiple Myeloma(14;0.17)																											p.L15L		Atlas-SNP	.											HLA-DRB1,colon,carcinoma,0,1	HLA-DRB1	41	1	0			c.C43T						PASS	.						87	106	99					6																	32557477		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon1			CTGTCAGCGCTGT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.43C>T	6.37:g.32557477G>A		Somatic	390	0	0		WXS	Illumina HiSeq	Phase_I	268	24	0.0895522	NM_002124	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			G|0.868;A|0.132	0.132	strong		0.592	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32557477	G	A	32557477	2	1	22	1	0	0	0	0	0	0	0	1	7208	962	34	2		2	HLA-DRB1	6	32557477	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5385	32557477	138557590	3625	8733	171	3								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557486	32557486	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcactgtcagcgctgtcaTgcaggagcctccagggagct					rs201540428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32557486T>A	ENST00000360004.5	-	1	139	c.34A>T	c.(34-36)Atg>Ttg	p.M12L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	12					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGCGCTGTCATGCAGGAGCCT	0.577										Multiple Myeloma(14;0.17)			T|||	371	0.0740815	0.1225	0.0389	5008	,	,		26616	0.0585		0.0417	False		,,,				2504	0.0828				p.M12L		Atlas-SNP	.											HLA-DRB1,colon,carcinoma,0,1	HLA-DRB1	41	1	0			c.A34T						PASS	.						86	104	97					6																	32557486		1511	2709	4220	SO:0001583	missense	3123	exon1			CTGTCATGCAGGA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.34A>T	6.37:g.32557486T>A	ENSP00000353099:p.Met12Leu	Somatic	370	0	0		WXS	Illumina HiSeq	Phase_I	267	22	0.082397	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.35	1.912089	0.33721	.	.	ENSG00000196126	ENST00000360004	T	0.00211	8.54	4.4	-0.756	0.11057	MHC classes I/II-like antigen recognition protein (1);	3.037640	0.01196	N	0.007449	T	0.00039	0.0001	L	0.39898	1.24	0.09310	N	1	B	0.31435	0.323	B	0.23716	0.048	T	0.30563	-0.9974	10	0.62326	D	0.03	.	0.4245	0.00461	0.1798:0.2114:0.1864:0.4224	rs3179205	12	P01911	2B1F_HUMAN	L	12	ENSP00000353099:M12L	ENSP00000353099:M12L	M	-	1	0	HLA-DRB1	32665464	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.388000	0.07352	-0.281000	0.09141	-0.530000	0.04314	ATG	T|0.848;A|0.152	0.152	strong		0.577	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32557486	T	A	32557486	3	1	22	1	0	0	0	0	1	0	0	0	7208	1464	51	5	790	5	HLA-DRB1	6	32557486	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9	32557486	138557581	3626	8734	171	3								
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32557489	32557489	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgtcagcgctgtcatgcAggagcctccagggagcttca					rs199514452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32557489A>T	ENST00000360004.5	-	1	136	c.31T>A	c.(31-33)Tgc>Agc	p.C11S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTGTCATGCAGGAGCCTCCA	0.582										Multiple Myeloma(14;0.17)			A|||	371	0.0740815	0.1225	0.0389	5008	,	,		25825	0.0585		0.0417	False		,,,				2504	0.0828				p.C11S		Atlas-SNP	.											HLA-DRB1,colon,carcinoma,0,1	HLA-DRB1	41	1	0			c.T31A						PASS	.						86	103	97					6																	32557489		1511	2709	4220	SO:0001583	missense	3123	exon1			TCATGCAGGAGCC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.31T>A	6.37:g.32557489A>T	ENSP00000353099:p.Cys11Ser	Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	274	23	0.0839416	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.772049	0.31320	.	.	ENSG00000196126	ENST00000360004	T	0.00241	8.46	4.68	2.29	0.28610	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00039	0.0001	L	0.48362	1.52	0.09310	N	1	B	0.20887	0.049	B	0.23419	0.046	T	0.38308	-0.9667	9	0.45353	T	0.12	.	3.8919	0.09122	0.7162:0.0:0.0991:0.1848	.	11	P01911	2B1F_HUMAN	S	11	ENSP00000353099:C11S	ENSP00000353099:C11S	C	-	1	0	HLA-DRB1	32665467	0.021000	0.18746	0.048000	0.18961	0.007000	0.05969	0.788000	0.26872	0.321000	0.23259	-0.530000	0.04314	TGC	A|0.864;T|0.136	0.136	strong		0.582	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32557489	A	T	32557489	3	4	22	1	0	0	0	0	1	0	0	0	7208	188	7	5	793	5	HLA-DRB1	6	32557489	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	32557489	138557578	3627	8735	171	3								
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32605257	32605257	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatcctaaacaaagctctgCtgctgggggccctcgctctg					rs1047989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32605257C>A	ENST00000343139.5	+	1	124	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.L8M|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.L8M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	8			M -> L (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*04:01 and allele DQA1*06:01; dbSNP:rs1047989).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAAGCTCTGCTGCTGGGGGC	0.522													.|||	2363	0.471845	0.407	0.6196	5008	,	,		14810	0.4345		0.5358	False		,,,				2504	0.4274				p.L8M		Atlas-SNP	.											.	HLA-DQA1	52	.	0			c.C22A						PASS	.	C	MET/LEU	1769,2637		383,1003,817	73	66	68		22	0.5	0	6	dbSNP_86	68	4719,3881		1369,1981,950	no	missense	HLA-DQA1	NM_002122.3	15	1752,2984,1767	AA,AC,CC		45.1279,40.1498,49.8847	benign	8/256	32605257	6488,6518	2203	4300	6503	SO:0001583	missense	3117	exon1			GCTCTGCTGCTGG		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.22C>A	6.37:g.32605257C>A	ENSP00000339398:p.Leu8Met	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	87	86	0.988506	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	CCDS4752.1	1077	0.49313186813186816	180	0.36585365853658536	214	0.5911602209944752	287	0.5017482517482518	396	0.5224274406332454	.	0.536	-0.855524	0.02630	0.401498	0.548721	ENSG00000196735	ENST00000422863;ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T;T	0.18174	2.23;4.59;4.59;4.26;4.59	4.15	0.462	0.16695	.	0.387707	0.24497	U	0.038020	T	0.01222	0.0040	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.18013	0.025;0.0	B;B	0.17979	0.02;0.005	T	0.45948	-0.9226	9	0.21014	T	0.42	.	3.4423	0.07468	0.5769:0.2049:0.2182:0.0	rs1047989;rs2308821;rs3176020;rs9272430;rs12722037;rs16870362;rs35187591	14;8	Q59F33;G4XQK2	.;.	M	8	ENSP00000405797:L8M;ENSP00000339398:L8M;ENSP00000378767:L8M;ENSP00000437302:L8M;ENSP00000364087:L8M	ENSP00000339398:L8M	L	+	1	2	HLA-DQA1	32713235	0.222000	0.23652	0.005000	0.12908	0.168000	0.22595	0.027000	0.13621	-0.059000	0.13154	-0.396000	0.06452	CTG	C|0.493;A|0.507	0.507	strong		0.522	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		A	32605257	C	A	32605257	3	1	22	1	0	0	0	0	1	0	0	0	7204	796	28	4	24	4	HLA-DQA1	6	32605257	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47768	32605257	138509810	3628	8736	172	2								
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32605266	32605266	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaagctctgctgctggggGccctcgctctgaccaccgtg					rs1047992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32605266G>A	ENST00000343139.5	+	1	133	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.A11T|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.A11T	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	11			A -> T (in allele DQA1*05:05, allele DQA1*05:08 and allele DQA1*05:09; dbSNP:rs1047992).	A -> S (in Ref. 4; AAA59760). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GCTGCTGGGGGCCCTCGCTCT	0.517																																					p.A11T		Atlas-SNP	.											.	HLA-DQA1	52	.	0			c.G31A						PASS	.	G	THR/ALA	316,4090		43,230,1930	75	68	70		31	0	0	6	dbSNP_86	70	564,8036		60,444,3796	no	missense	HLA-DQA1	NM_002122.3	58	103,674,5726	AA,AG,GG		6.5581,7.172,6.7661	benign	11/256	32605266	880,12126	2203	4300	6503	SO:0001583	missense	3117	exon1			CTGGGGGCCCTCG		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.31G>A	6.37:g.32605266G>A	ENSP00000339398:p.Ala11Thr	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	87	24	0.275862	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	CCDS4752.1	255	0.11675824175824176	72	0.14634146341463414	46	0.1270718232044199	54	0.0944055944055944	83	0.10949868073878628	.	3.358	-0.131142	0.06753	0.07172	0.065581	ENSG00000196735	ENST00000422863;ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T;T	0.24723	1.84;4.7;4.7;4.39;4.7	4.15	0.00859	0.14075	.	0.954045	0.08671	N	0.910981	T	0.04363	0.0120	N	0.17838	0.53	0.80722	P	0.0	B;B	0.25609	0.13;0.004	B;B	0.22152	0.038;0.019	T	0.43972	-0.9358	9	0.18276	T	0.48	.	6.123	0.20164	0.4943:0.0:0.5057:0.0	rs1047992;rs2308822;rs9469203;rs16868253;rs35899717	17;11	Q59F33;G4XQK2	.;.	T	11	ENSP00000405797:A11T;ENSP00000339398:A11T;ENSP00000378767:A11T;ENSP00000437302:A11T;ENSP00000364087:A11T	ENSP00000339398:A11T	A	+	1	0	HLA-DQA1	32713244	0.000000	0.05858	0.006000	0.13384	0.168000	0.22595	-0.452000	0.06787	0.098000	0.17522	-0.275000	0.10095	GCC	G|0.879;A|0.121	0.121	strong		0.517	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		A	32605266	G	A	32605266	3	1	22	1	0	0	0	0	1	0	0	0	7204	1203	42	2	33	2	HLA-DQA1	6	32605266	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9	32605266	138509801	3629	8737	172	2								
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32609097	32609097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcatcagctgaccacgtTgcctcttgtggtgtaaactt	8	12	3	1	rs553033826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32609097T>C	ENST00000343139.5	+	2	195	c.93T>C	c.(91-93)gtT>gtC	p.V31V	HLA-DQA1_ENST00000374949.2_Silent_p.V31V|HLA-DQA1_ENST00000395363.1_Silent_p.V31V	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	31	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTGACCACGTTGCCTCTTGTG	0.463													.|||	967	0.193091	0.2171	0.2522	5008	,	,		17644	0.1339		0.2396	False		,,,				2504	0.1319				p.V31V		Atlas-SNP	.											.	HLA-DQA1	52	.	0			c.T93C						PASS	.	T		919,3487		123,673,1407	147	125	132		93	-0.5	0	6	dbSNP_118	132	2114,6474		330,1454,2510	no	coding-synonymous	HLA-DQA1	NM_002122.3		453,2127,3917	CC,CT,TT		24.6157,20.8579,23.3415		31/256	32609097	3033,9961	2203	4294	6497	SO:0001819	synonymous_variant	3117	exon2			CCACGTTGCCTCT		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.93T>C	6.37:g.32609097T>C		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	160	160	1	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	CCDS4752.1	449	0.20558608058608058	104	0.21138211382113822	96	0.26519337016574585	88	0.15384615384615385	161	0.21240105540897097	.	2.891	-0.229734	0.06022	0.208579	0.246157	ENSG00000196735	ENST00000486548	.	.	.	3.84	-0.455	0.12193	.	.	.	.	.	T	0.07593	0.0191	.	.	.	0.44789	P	0.002206999999999959	.	.	.	.	.	.	T	0.32955	-0.9887	3	.	.	.	.	1.1609	0.01805	0.1526:0.1993:0.1463:0.5018	rs9272688;rs12722044;rs17412258	.	.	.	S	4	.	.	L	+	2	0	HLA-DQA1	32717075	0.372000	0.25064	0.013000	0.15412	0.005000	0.04900	-0.091000	0.11146	-0.119000	0.11830	-1.777000	0.00654	TTG	T|0.743;C|0.257	0.257	strong		0.463	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609097	T	C	32609097	2	2	22	1	0	0	0	0	0	0	0	1	7204	1799	63	2		2	HLA-DQA1	6	32609097	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3831	32609097	138505970	3630	8738										
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32609806	32609806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacactgggtcagcccaacaCcctcatttgtcttgtggaca	9	13	3	0	rs707952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32609806C>T	ENST00000343139.5	+	3	491	c.389C>T	c.(388-390)aCc>aTc	p.T130I	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.T130I|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.T130I	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	129	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCCCAACACCCTCATTTGT	0.507													.|||	937	0.187101	0.2209	0.2392	5008	,	,		18850	0.12		0.2286	False		,,,				2504	0.1309				p.T130I		Atlas-SNP	.											.	HLA-DQA1	52	.	0			c.C389T						PASS	.	C	ILE/THR	680,2342		130,420,961	156	115	130		389	2.1	1	6	dbSNP_86	130	1340,4078		191,958,1560	yes	missense	HLA-DQA1	NM_002122.3	89	321,1378,2521	TT,TC,CC		24.7324,22.5017,23.9336	benign	130/256	32609806	2020,6420	1511	2709	4220	SO:0001583	missense	3117	exon3			CCAACACCCTCAT		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.389C>T	6.37:g.32609806C>T	ENSP00000339398:p.Thr130Ile	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	254	254	1	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	CCDS4752.1	444|444	0.2032967032967033|0.2032967032967033	103|103	0.20934959349593496|0.20934959349593496	96|96	0.26519337016574585|0.26519337016574585	87|87	0.1520979020979021|0.1520979020979021	158|158	0.20844327176781002|0.20844327176781002	.|.	7.950|7.950	0.744573|0.744573	0.15710|0.15710	0.225017|0.225017	0.247324|0.247324	ENSG00000196735|ENSG00000196735	ENST00000486548|ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	.|T;T;T;T	.|0.00646	.|6.0;6.0;6.0;6.0	4.1|4.1	2.07|2.07	0.26955|0.26955	.|.	.|0.503713	.|0.18451	.|N	.|0.140840	T|T	0.00271|0.00271	0.0008|0.0008	L|L	0.49640|0.49640	1.575|1.575	0.34178|0.34178	P|P	0.32944399999999996|0.32944399999999996	.|B;B	.|0.14012	.|0.009;0.001	.|B;B	.|0.16722	.|0.016;0.016	T|T	0.41124|0.41124	-0.9526|-0.9526	4|9	.|0.26408	.|T	.|0.33	.|.	4.8377|4.8377	0.13473|0.13473	0.0:0.5171:0.0:0.4829|0.0:0.5171:0.0:0.4829	rs707952;rs2308879;rs3176021;rs9272745;rs16870410;rs707952|rs707952;rs2308879;rs3176021;rs9272745;rs16870410;rs707952	.|136;130	.|Q59F33;G4XQK2	.|.;.	S|I	103|130	.|ENSP00000339398:T130I;ENSP00000378767:T130I;ENSP00000437302:T130I;ENSP00000364087:T130I	.|ENSP00000339398:T130I	P|T	+|+	1|2	0|0	HLA-DQA1|HLA-DQA1	32717784|32717784	0.879000|0.879000	0.30193|0.30193	0.999000|0.999000	0.59377|0.59377	0.311000|0.311000	0.27955|0.27955	0.300000|0.300000	0.19156|0.19156	0.410000|0.410000	0.25675|0.25675	0.655000|0.655000	0.94253|0.94253	CCC|ACC	C|0.785;T|0.215	0.215	strong		0.507	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		T	32609806	C	T	32609806	3	4	22	1	0	0	0	0	1	0	0	0	7204	507	18	2	399	2	HLA-DQA1	6	32609806	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	709	32609806	138505261	3631	8739										
HLA-DQB1	3119	hgsc.bcm.edu	37	chr6	32632744	32632744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacgtcgctgtcgaagcgCgcgtactcctctcggttata	10	15	1	0	rs1049082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32632744C>T	ENST00000399084.1	-	3	388	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HLA-DQB1_ENST00000399079.3_Silent_p.A70A|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Silent_p.A70A|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.A70A			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	70	Beta-1.		A -> T (in allele DQB1*03:20; dbSNP:rs45519640).|A -> V (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, allele DQB1*02:05, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:04, allele DQB1*06:01, allele DQB1*06:28 and allele DQB1*06:35; dbSNP:rs1063318).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TGTCGAAGCGCGCGTACTCCT	0.607									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				C|||	1874	0.374201	0.2806	0.4827	5008	,	,		6825	0.4365		0.3897	False		,,,				2504	0.3436				p.A70A	Esophageal Squamous(151;720 1825 15000 40336 43415)	Atlas-SNP	.											.	HLA-DQB1	15	.	0			c.G210A						PASS	.	C		1037,3243		221,595,1324	37	37	37		210	3.1	0.9	6	dbSNP_86	37	3122,5344		846,1430,1957	no	coding-synonymous	HLA-DQB1	NM_002123.4		1067,2025,3281	TT,TC,CC		36.8769,24.229,32.6298		70/262	32632744	4159,8587	2140	4233	6373	SO:0001819	synonymous_variant	3119	exon2	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	GAAGCGCGCGTAC		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.210G>A	6.37:g.32632744C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399084.1	37	CCDS43451.1																																																																																			C|0.668;T|0.332	0.332	strong		0.607	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		T	32632744	C	T	32632744	2	4	22	1	0	0	0	0	0	0	0	1	7206	755	27	1		1	HLA-DQB1	6	32632744	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22938	32632744	138482323	3632	8740										
HLA-DQB1	3119	hgsc.bcm.edu	37	chr6	32632820	32632820	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttggtgaagtagcacatgCccttaaactggaacacgaaa	10	9	0	1	rs1130375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32632820C>G	ENST00000399084.1	-	3	312	c.134G>C	c.(133-135)gGc>gCc	p.G45A	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.G45A|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.G45A|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.G45A			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	45	Beta-1.		A -> G (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, allele DQB1*02:05, allele DQB1*03:02, allele DQB1*03:03, allele DQB1*03:05, allele DQB1*03:06, allele DQB1*03:07, allele DQB1*03:08, allele DQB1*03:11, allele DQB1*03:15, allele DQB1*03:17, allele DQB1*03:18, allele DQB1*03:20, allele DQB1*03:23, allele DQB1*03:25, allele DQB1*03:26, allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:04, allele DQB1*05:05, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:05, allele DQB1*06:07, allele DQB1*06:08, allele DQB1*06:09, allele DQB1*06:10, allele DQB1*06:11, allele DQB1*06:12, allele DQB1*06:13, allele DQB1*06:14, allele DQB1*06:15, allele DQB1*06:16, allele DQB1*06:17, allele DQB1*06:18, allele DQB1*06:19, allele DQB1*06:20, allele DQB1*06:21, allele DQB1*06:22, allele DQB1*06:23, allele DQB1*06:24, allele DQB1*06:25, allele DQB1*06:27, allele DQB1*06:28, allele DQB1*06:29, allele DQB1*06:30, allele DQB1*06:31, allele DQB1*06:32, allele DQB1*06:33, allele DQB1*06:34, allele DQB1*06:36, allele DQB1*06:37, allele DQB1*06:38 and allele DQB1*06:39; dbSNP:rs1130375). {ECO:0000269|PubMed:3584986}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GTAGCACATGCCCTTAAACTG	0.652									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				c|||	1300	0.259585	0.2216	0.2147	5008	,	,		7556	0.3234		0.1998	False		,,,				2504	0.3384				p.G45A	Esophageal Squamous(151;720 1825 15000 40336 43415)	Atlas-SNP	.											.	HLA-DQB1	15	.	0			c.G134C						PASS	.	C	ALA/GLY	656,3586		71,514,1536	24	24	24		134	2.3	0	6	dbSNP_86	24	1516,6910		184,1148,2881	yes	missense	HLA-DQB1	NM_002123.4	60	255,1662,4417	GG,GC,CC		17.9919,15.4644,17.1456	benign	45/262	32632820	2172,10496	2121	4213	6334	SO:0001583	missense	3119	exon2	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	CACATGCCCTTAA		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.134G>C	6.37:g.32632820C>G	ENSP00000382034:p.Gly45Ala	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	25	24	0.96	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399084.1	37	CCDS43451.1	484	0.2216117216117216	93	0.18902439024390244	72	0.19889502762430938	191	0.3339160839160839	128	0.16886543535620052	.	4.079	0.012574	0.07912	0.154644	0.179919	ENSG00000179344	ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084	T;T;T;T	0.00235	8.48;8.48;8.48;8.48	4.13	2.26	0.28386	.	0.340862	0.12493	N	0.464088	T	0.00039	0.0001	.	.	.	0.39429	P	0.03294699999999995	B;B;B;B	0.26775	0.159;0.005;0.001;0.001	B;B;B;B	0.32149	0.141;0.012;0.009;0.009	T	0.00000	-1.3101	8	0.12103	T	0.63	.	11.998	0.53214	0.0:0.5934:0.4066:0.0	rs1130375;rs3189158;rs12722109;rs17416204	55;45;45;45	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	A	45	ENSP00000382029:G45A;ENSP00000364080:G45A;ENSP00000407332:G45A;ENSP00000382034:G45A	ENSP00000364080:G45A	G	-	2	0	HLA-DQB1	32740798	0.000000	0.05858	0.040000	0.18447	0.076000	0.17211	-4.545000	0.00218	0.344000	0.23847	0.305000	0.20034	GGC	G|0.228;C|0.772	0.228	strong		0.652	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		G	32632820	C	G	32632820	3	3	22	1	0	0	0	0	1	0	0	0	7206	739	26	4	667	4	HLA-DQB1	6	32632820	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76	32632820	138482247	3633	8741										
HLA-DQB1	3119	hgsc.bcm.edu	37	chr6	32634341	32634341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatcaaggtgacagttgctAcccgaaggtctccggggatc	13	11	2	1	rs3189152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32634341A>G	ENST00000399082.3	-	1	88	c.44T>C	c.(43-45)gTa>gCa	p.V15A	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.V15A|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.V15A			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	15			A -> V (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs3189152). {ECO:0000269|PubMed:3584986}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GACAGTTGCTACCCGAAGGTC	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				a|||	1916	0.382588	0.3646	0.3487	5008	,	,		10661	0.3661		0.3549	False		,,,				2504	0.4765				p.V15A	Esophageal Squamous(151;720 1825 15000 40336 43415)	Atlas-SNP	.											HLA-DQB1,NS,carcinoma,0,1	HLA-DQB1	15	1	0			c.T44C						scavenged	.	G	ALA/VAL	1086,2800		255,576,1112	53	51	52		44	-0.2	0	6	dbSNP_105	52	2480,5732		644,1192,2270	yes	missense	HLA-DQB1	NM_002123.4	64	899,1768,3382	GG,GA,AA		30.1997,27.9465,29.4759	benign	15/262	32634341	3566,8532	1943	4106	6049	SO:0001583	missense	3119	exon1	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	GTTGCTACCCGAA		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.44T>C	6.37:g.32634341A>G	ENSP00000382032:p.Val15Ala	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		634	0.2902930402930403	133	0.2703252032520325	113	0.31215469613259667	187	0.3269230769230769	201	0.26517150395778366	.	0.440	-0.899235	0.02472	0.279465	0.301997	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03496	3.91;8.45;8.45;8.45;8.45	4.07	-0.196	0.13232	.	536.546000	0.00447	N	0.000082	T	0.00906	0.0030	.	.	.	0.80722	P	0.0	B;B;B;B	0.14438	0.01;0.0;0.0;0.0	B;B;B;B	0.11329	0.006;0.0;0.0;0.0	T	0.47394	-0.9121	8	0.45353	T	0.12	.	2.9773	0.05942	0.1685:0.2496:0.4568:0.125	rs3189152;rs9274520	25;15;15;15	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	A	15	ENSP00000382032:V15A;ENSP00000382029:V15A;ENSP00000364080:V15A;ENSP00000407332:V15A;ENSP00000382034:V15A	ENSP00000364080:V15A	V	-	2	0	HLA-DQB1	32742319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.498000	0.06632	-3.953000	0.00015	GTA	A|0.710;G|0.290	0.290	strong		0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		G	32634341	A	G	32634341	3	3	22	1	0	0	0	0	1	0	0	0	7206	391	14	2	761	2	HLA-DQB1	6	32634341	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1521	32634341	138480726	3634	8742										
HLA-DQB1	3119	hgsc.bcm.edu	37	chr6	32634373	32634373	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggggatccgcaaagccttCttccaagacataactgagac	9	13	1	2	rs9274522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32634373C>T	ENST00000399082.3	-	1	56	c.12G>A	c.(10-12)aaG>aaA	p.K4K	HLA-DQB1_ENST00000399079.3_Silent_p.K4K|HLA-DQB1_ENST00000399084.1_Silent_p.K4K|HLA-DQB1_ENST00000374943.4_Silent_p.K4K|HLA-DQB1_ENST00000434651.2_Silent_p.K4K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	4					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GCAAAGCCTTCTTCCAAGACA	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				c|||	1621	0.323682	0.3722	0.3458	5008	,	,		14244	0.2381		0.3608	False		,,,				2504	0.2924				p.K4K	Esophageal Squamous(151;720 1825 15000 40336 43415)	Atlas-SNP	.											.	HLA-DQB1	15	.	0			c.G12A						PASS	.						39	38	38					6																	32634373		1927	4107	6034	SO:0001819	synonymous_variant	3119	exon1	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	AGCCTTCTTCCAA		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.12G>A	6.37:g.32634373C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																				C|0.670;T|0.330	0.330	strong		0.532	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		T	32634373	C	T	32634373	2	4	22	1	0	0	0	0	0	0	0	1	7206	912	32	2		2	HLA-DQB1	6	32634373	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32	32634373	138480694	3635	8743										
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713099	32713099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatttataagttttgacccGcagagtgcactgagaaatat	8	6	0	3	rs9469266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32713099G>A	ENST00000374940.3	+	2	348	c.246G>A	c.(244-246)ccG>ccA	p.P82P		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	82	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	GTTTTGACCCGCAGAGTGCAC	0.468													G|||	371	0.0740815	0.2337	0.0548	5008	,	,		21011	0.0		0.0159	False		,,,				2504	0.0082				p.P82P		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.G246A						PASS	.	G		635,2387		65,505,941	128	124	126		246	-4.1	1	6	dbSNP_119	126	71,5347		1,69,2639	no	coding-synonymous	HLA-DQA2	NM_020056.4		66,574,3580	AA,AG,GG		1.3104,21.0126,8.3649		82/256	32713099	706,7734	1511	2709	4220	SO:0001819	synonymous_variant	3118	exon2			TGACCCGCAGAGT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.246G>A	6.37:g.32713099G>A		Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			G|0.926;A|0.074	0.074	strong		0.468	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		A	32713099	G	A	32713099	2	1	22	1	0	0	0	0	0	0	0	1	7205	1074	38	1		1	HLA-DQA2	6	32713099	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78726	32713099	138401968	3636	8744			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713608	32713608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccaagtttcctgtgacGctgggtcagcccaacaccct	8	14	1	1	rs199931222		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32713608G>A	ENST00000374940.3	+	3	474	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCCTGTGACGCTGGGTCAGC	0.512																																					p.T124T		Atlas-SNP	.											HLA-DQA2,colon,carcinoma,+1,1	HLA-DQA2	27	1	0			c.G372A						PASS	.						199	156	171					6																	32713608		1511	2709	4220	SO:0001819	synonymous_variant	3118	exon3			TGTGACGCTGGGT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.372G>A	6.37:g.32713608G>A		Somatic	436	0	0		WXS	Illumina HiSeq	Phase_I	426	57	0.133803	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			G|0.998;A|0.002	0.002	weak		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		A	32713608	G	A	32713608	2	1	22	1	0	0	0	0	0	0	0	1	7205	1074	38	1		1	HLA-DQA2	6	32713608	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	509	32713608	138401459	3637	8745			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713625	32713625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgctgggtcagcccaacaCcctcatctgtcttgtggaca	10	14	4	0	rs116163401		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32713625C>T	ENST00000374940.3	+	3	491	c.389C>T	c.(388-390)aCc>aTc	p.T130I		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	130	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CAGCCCAACACCCTCATCTGT	0.507																																					p.T130I		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.C389T						PASS	.						233	188	204					6																	32713625		1511	2709	4220	SO:0001583	missense	3118	exon3			CCAACACCCTCAT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.389C>T	6.37:g.32713625C>T	ENSP00000364076:p.Thr130Ile	Somatic	468	0	0		WXS	Illumina HiSeq	Phase_I	488	91	0.186475	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	4.868	0.161426	0.09287	.	.	ENSG00000237541	ENST00000374940	T	0.00646	6.0	3.06	-0.952	0.10366	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.640493	0.14599	N	0.309723	T	0.00271	0.0008	L	0.38649	1.16	0.30248	N	0.79432	B	0.24618	0.107	B	0.32724	0.151	T	0.24941	-1.0146	10	0.26408	T	0.33	.	6.9609	0.24597	0.0:0.3016:0.0:0.6984	.	130	P01906	DQA2_HUMAN	I	130	ENSP00000364076:T130I	ENSP00000364076:T130I	T	+	2	0	HLA-DQA2	32821603	0.587000	0.26791	0.996000	0.52242	0.133000	0.20885	0.068000	0.14531	-0.173000	0.10761	0.174000	0.16983	ACC	C|0.998;T|0.002	0.002	weak		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		T	32713625	C	T	32713625	3	4	22	1	0	0	0	0	1	0	0	0	7205	507	18	2	399	2	HLA-DQA2	6	32713625	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	32713625	138401442	3638	8746			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713771	32713771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagatcagttacctcaccTtcctcccttctgctgatgag	6	14	4	3	rs148720159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32713771T>C	ENST00000374940.3	+	3	637	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	179	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTACCTCACCTTCCTCCCTTC	0.512																																					p.F179L		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.T535C						PASS	.						197	208	204					6																	32713771		1511	2707	4218	SO:0001583	missense	3118	exon3			CTCACCTTCCTCC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.535T>C	6.37:g.32713771T>C	ENSP00000364076:p.Phe179Leu	Somatic	587	1	0.00170358		WXS	Illumina HiSeq	Phase_I	627	129	0.205742	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724544	0.48728	.	.	ENSG00000237541	ENST00000374940	T	0.02737	4.18	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.02533	0.0077	M	0.68728	2.09	0.44862	D	0.997875	B	0.25563	0.129	B	0.36719	0.231	T	0.14643	-1.0465	10	0.66056	D	0.02	.	9.4676	0.38822	0.0:0.0:0.0:1.0	.	179	P01906	DQA2_HUMAN	L	179	ENSP00000364076:F179L	ENSP00000364076:F179L	F	+	1	0	HLA-DQA2	32821749	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.148000	0.64857	1.388000	0.46506	0.147000	0.16070	TTC	T|0.667;C|0.333	0.333	strong		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		C	32713771	T	C	32713771	3	2	22	1	0	0	0	0	1	0	0	0	7205	1609	56	3	545	3	HLA-DQA2	6	32713771	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	146	32713771	138401296	3639	8747			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32713821	32713821	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaaggtggagcactggggCctggacgagcctcttctgaa	15	10	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32713821C>A	ENST00000374940.3	+	3	687	c.585C>A	c.(583-585)ggC>ggA	p.G195G		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	195	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	AGCACTGGGGCCTGGACGAGC	0.493																																					p.G195G		Atlas-SNP	.											HLA-DQA2,NS,carcinoma,+2,1	HLA-DQA2	27	1	0			c.C585A						scavenged	.						170	197	188					6																	32713821		1511	2709	4220	SO:0001819	synonymous_variant	3118	exon3			CTGGGGCCTGGAC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.585C>A	6.37:g.32713821C>A		Somatic	593	0	0		WXS	Illumina HiSeq	Phase_I	645	24	0.0372093	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			C|0.778;A|0.222	0.222	strong		0.493	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		A	32713821	C	A	32713821	2	1	22	1	0	0	0	0	0	0	0	1	7205	726	26	4		4	HLA-DQA2	6	32713821	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50	32713821	138401246	3640	8748			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32714083	32714083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgccctggggttgtctgTgggcctcatgggcattgtgg	17	10	2	0	rs9276436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32714083T>C	ENST00000374940.3	+	4	782	c.680T>C	c.(679-681)gTg>gCg	p.V227A		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	227			V -> A (in dbSNP:rs9276436). {ECO:0000269|PubMed:14574404}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	GGGTTGTCTGTGGGCCTCATG	0.547													.|||	548	0.109425	0.2693	0.147	5008	,	,		21943	0.002		0.0815	False		,,,				2504	0.0061				p.V227A		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.T680C						PASS	.	C	ALA/VAL	724,2298		79,566,866	163	161	162		680	0.5	0.2	6	dbSNP_118	162	422,4996		14,394,2301	no	missense	HLA-DQA2	NM_020056.4	64	93,960,3167	CC,CT,TT		7.7889,23.9576,13.5782	benign	227/256	32714083	1146,7294	1511	2709	4220	SO:0001583	missense	3118	exon4			TGTCTGTGGGCCT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.680T>C	6.37:g.32714083T>C	ENSP00000364076:p.Val227Ala	Somatic	611	0	0		WXS	Illumina HiSeq	Phase_I	690	306	0.443478	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	231	0.10576923076923077	128	0.2601626016260163	54	0.14917127071823205	2	0.0034965034965034965	47	0.06200527704485488	.	2.795	-0.250545	0.05867	0.239576	0.077889	ENSG00000237541	ENST00000374940	T	0.02140	4.43	3.06	0.523	0.17060	.	1.014970	0.07913	U	0.974554	T	0.01835	0.0058	M	0.88181	2.935	0.54753	P	1.2000000000012001E-5	B	0.12013	0.005	B	0.17979	0.02	T	0.27872	-1.0061	9	0.66056	D	0.02	.	6.2586	0.20887	0.0:0.1701:0.0:0.8299	rs9276436;rs17213358;rs17219757;rs9276436	227	P01906	DQA2_HUMAN	A	227	ENSP00000364076:V227A	ENSP00000364076:V227A	V	+	2	0	HLA-DQA2	32822061	0.686000	0.27661	0.177000	0.23020	0.027000	0.11550	0.916000	0.28651	-0.031000	0.13781	-3.317000	0.00044	GTG	T|0.882;C|0.118	0.118	strong		0.547	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		C	32714083	T	C	32714083	3	2	22	1	0	0	0	0	1	0	0	0	7205	1696	59	2	694	2	HLA-DQA2	6	32714083	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	262	32714083	138400984	3641	8749			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DQA2	3118	hgsc.bcm.edu	37	chr6	32714168	32714168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagacaccaagggctcttAtgaatcccatcctgaaaagg	8	12	1	3	rs9276437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32714168A>G	ENST00000374940.3	+	4	867	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	AAGGGCTCTTATGAATCCCAT	0.517													.|||	786	0.156949	0.3033	0.219	5008	,	,		21502	0.0655		0.1153	False		,,,				2504	0.0521				p.L255L		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.A765G						PASS	.	G		751,2271		79,593,839	119	121	120		765	1.1	0.1	6	dbSNP_118	120	527,4891		14,499,2196	no	coding-synonymous	HLA-DQA2	NM_020056.4		93,1092,3035	GG,GA,AA		9.7268,24.8511,15.1422		255/256	32714168	1278,7162	1511	2709	4220	SO:0001819	synonymous_variant	3118	exon4			GCTCTTATGAATC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.765A>G	6.37:g.32714168A>G		Somatic	385	2	0.00519481		WXS	Illumina HiSeq	Phase_I	454	250	0.550661	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			A|0.848;G|0.152	0.152	strong		0.517	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		G	32714168	A	G	32714168	2	3	22	1	0	0	0	0	0	0	0	1	7205	446	16	2		2	HLA-DQA2	6	32714168	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85	32714168	138400899	3642	8750			13	42	1330217	7	7	1070	N	T_G_C_A	3.055384e-06
HLA-DMA	3108	hgsc.bcm.edu	37	chr6	32917126	32917126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacccaggccaaaggccaCgccacacagcacattctcca	6	19	1	0	rs9469319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32917126C>T	ENST00000374843.4	-	4	788	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	HLA-DMA_ENST00000395305.3_Missense_Mutation_p.V140M|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.V201M|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	235			V -> M (in dbSNP:rs9469319).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						CCAAAGGCCACGCCACACAGC	0.592													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		19854	0.0		0.0	False		,,,				2504	0.0				p.V235M		Atlas-SNP	.											.	HLA-DMA	20	.	0			c.G703A						PASS	.	C	MET/VAL	21,4385	28.1+/-56.4	0,21,2182	91	85	87		703	-2.8	0	6	dbSNP_119	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HLA-DMA	NM_006120.3	21	0,22,6481	TT,TC,CC		0.0116,0.4766,0.1692	possibly-damaging	235/262	32917126	22,12984	2203	4300	6503	SO:0001583	missense	3108	exon4			AGGCCACGCCACA		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.703G>A	6.37:g.32917126C>T	ENSP00000363976:p.Val235Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	100	50	0.5	NM_006120	Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	CCDS4761.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	11.77	1.739075	0.30774	0.004766	1.16E-4	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01821	5.12;4.62;5.63;5.55	5.0	-2.84	0.05751	.	0.963671	0.08623	N	0.918117	T	0.00724	0.0024	M	0.71581	2.175	0.09310	N	1	P	0.52316	0.952	B	0.37780	0.258	T	0.41840	-0.9486	10	0.87932	D	0	.	1.2422	0.01965	0.127:0.2689:0.2786:0.3255	rs9469319;rs9469319	235	Q31604	.	M	140;201;235;265	ENSP00000378716:V140M;ENSP00000378714:V201M;ENSP00000363976:V235M;ENSP00000409668:V265M	ENSP00000363976:V235M	V	-	1	0	HLA-DMA	33025104	0.000000	0.05858	0.006000	0.13384	0.598000	0.36846	-1.977000	0.01495	-0.428000	0.07339	0.551000	0.68910	GTG	C|0.997;T|0.003	0.003	strong		0.592	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		T	32917126	C	T	32917126	3	4	22	1	0	0	0	0	1	0	0	0	7198	536	19	1	90	1	HLA-DMA	6	32917126	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	202958	32917126	138197941	3643	8751										
HLA-DOA	3111	hgsc.bcm.edu	37	chr6	32975896	32975896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcaaagcgggcaaagtcAccaaactcaggcagacgcca	12	12	3	1	rs364950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32975896A>G	ENST00000229829.5	-	2	300	c.225T>C	c.(223-225)ggT>ggC	p.G75G	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.G45G	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	75	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGGCAAAGTCACCAAACTCAG	0.612													G|||	401	0.0800719	0.233	0.0749	5008	,	,		16847	0.0		0.0408	False		,,,				2504	0.0				p.G75G		Atlas-SNP	.											.	HLA-DOA	22	.	0			c.T225C						PASS	.	G		616,2406		51,514,946	58	52	54		225	1.6	0.1	6	dbSNP_80	54	141,5277		1,139,2569	no	coding-synonymous	HLA-DOA	NM_002119.3		52,653,3515	GG,GA,AA		2.6024,20.3839,8.9692		75/251	32975896	757,7683	1511	2709	4220	SO:0001819	synonymous_variant	3111	exon2			AAAGTCACCAAAC	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.225T>C	6.37:g.32975896A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_002119	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	CCDS4763.1																																																																																			A|0.906;G|0.094	0.094	strong		0.612	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		G	32975896	A	G	32975896	2	3	22	1	0	0	0	0	0	0	0	1	7200	146	6	2		2	HLA-DOA	6	32975896	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	58770	32975896	138139171	3644	8752										
HLA-DOA	3111	hgsc.bcm.edu	37	chr6	32976013	32976013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtaagactggtagaaggcGggtccgtaggagcccatgtg	16	9	0	2	rs78635760|rs41541116|rs538455361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:32976013G>A	ENST00000229829.5	-	2	183	c.108C>T	c.(106-108)ccC>ccT	p.P36P	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Silent_p.P6P	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	36	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGTAGAAGGCGGGTCCGTAGG	0.522													G|||	65	0.0129792	0.0454	0.0072	5008	,	,		19086	0.0		0.0	False		,,,				2504	0.0				p.P36P		Atlas-SNP	.											HLA-DOA,colon,carcinoma,0,1	HLA-DOA	22	1	0			c.C108T						PASS	.	G		140,2880		7,126,1377	47	49	48		108	0.4	1	6	dbSNP_131	48	3,5411		0,3,2704	no	coding-synonymous	HLA-DOA	NM_002119.3		7,129,4081	AA,AG,GG		0.0554,4.6358,1.6955		36/251	32976013	143,8291	1510	2707	4217	SO:0001819	synonymous_variant	3111	exon2			GAAGGCGGGTCCG	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.108C>T	6.37:g.32976013G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	89	60	0.674157	NM_002119	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	CCDS4763.1	24	0.01098901098901099	21	0.042682926829268296	3	0.008287292817679558	0	0.0	0	0.0	G	11.11	1.541489	0.27563	0.046358	5.54E-4	ENSG00000204252	ENST00000432150	.	.	.	4.4	0.402	0.16344	.	0.265318	0.38720	N	0.001589	T	0.45577	0.1349	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48875	-0.8996	6	0.87932	D	0	.	5.2858	0.15700	0.0:0.0992:0.3715:0.5293	.	.	.	.	L	36	.	ENSP00000412819:P36L	P	-	2	0	HLA-DOA	33083991	0.970000	0.33590	0.999000	0.59377	0.977000	0.68977	-0.448000	0.06820	-0.008000	0.14320	-0.271000	0.10264	CCG	G|0.984;A|0.016	0.016	strong		0.522	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		A	32976013	G	A	32976013	2	1	22	1	0	0	0	0	0	0	0	1	7200	1103	39	1		1	HLA-DOA	6	32976013	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117	32976013	138139054	3645	8753										
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036435	33036435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttacagtatttcacagggTcccctgggcccgggggtcat	12	12	2	0	rs1126769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036435T>G	ENST00000419277.1	-	5	904	c.775A>C	c.(775-777)Acc>Ccc	p.T259P	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.T259P|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	259			T -> P (in allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*04:01; dbSNP:rs1126769).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TTTCACAGGGTCCCCTGGGCC	0.527													G|||	2190	0.4373	0.5794	0.2839	5008	,	,		17401	0.6746		0.1859	False		,,,				2504	0.3681				p.T259P		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.A775C						PASS	.	G	PRO/THR,PRO/THR,PRO/THR	1231,1783		320,591,596	64	92	82		775,775,775	2.9	0.9	6	dbSNP_86	82	830,4584		70,690,1947	yes	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	38,38,38	390,1281,2543	GG,GT,TT		15.3306,40.8427,24.4542	benign,benign,benign	259/261,259/261,259/261	33036435	2061,6367	1507	2707	4214	SO:0001583	missense	3113	exon4			ACAGGGTCCCCTG	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.775A>C	6.37:g.33036435T>G	ENSP00000393566:p.Thr259Pro	Somatic	444	0	0		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.787475|-1.787475	0.00628|0.00628	0.408427|0.408427	0.153306|0.153306	ENSG00000231389|ENSG00000231389	ENST00000437811|ENST00000419277;ENST00000428995	.|T;T	.|0.01560	.|4.77;4.77	3.8|3.8	2.93|2.93	0.34026|0.34026	.|.	.|0.593771	.|0.12507	.|N	.|0.462837	T|T	0.00144|0.00144	0.0004|0.0004	N|N	0.00124|0.00124	-2.055|-2.055	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29397|0.29397	-1.0013|-1.0013	4|9	.|0.02654	.|T	.|1	.|.	4.9947|4.9947	0.14233|0.14233	0.1136:0.0:0.6795:0.2069|0.1136:0.0:0.6795:0.2069	rs1126769;rs2308935;rs3182009;rs17411807|rs1126769;rs2308935;rs3182009;rs17411807	.|259	.|P20036	.|DPA1_HUMAN	A|P	126|259	.|ENSP00000393566:T259P;ENSP00000402872:T259P	.|ENSP00000393566:T259P	D|T	-|-	2|1	0|0	HLA-DPA1|HLA-DPA1	33144413|33144413	0.004000|0.004000	0.15560|0.15560	0.929000|0.929000	0.37066|0.37066	0.174000|0.174000	0.22865|0.22865	0.215000|0.215000	0.17562|0.17562	0.229000|0.229000	0.21039|0.21039	-0.764000|-0.764000	0.03450|0.03450	GAC|ACC	T|0.815;G|0.185	0.185	strong		0.527	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		G	33036435	T	G	33036435	3	3	22	1	0	0	0	0	1	0	0	0	7202	1667	58	5	11	5	HLA-DPA1	6	33036435	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60422	33036435	138078632	3646	8754			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036505	33036505	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtgcccacgatgatgccGactaggcccagcaccaggcc	12	16	0	1	rs1042434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036505G>C	ENST00000419277.1	-	5	834	c.705C>G	c.(703-705)gtC>gtG	p.V235V	HLA-DPA1_ENST00000463066.1_5'Flank|HLA-DPA1_ENST00000428995.1_Silent_p.V235V	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CGATGATGCCGACTAGGCCCA	0.582													C|||	2381	0.475439	0.7095	0.2997	5008	,	,		18440	0.6796		0.1889	False		,,,				2504	0.3681				p.V235V		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.C705G						PASS	.	C	,,	1707,1313		479,749,282	104	126	118		705,705,705	2.5	0.6	6	dbSNP_86	118	968,4450		74,820,1815	yes	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	553,1569,2097	CC,CG,GG		17.8664,43.4768,31.7018	,,	235/261,235/261,235/261	33036505	2675,5763	1510	2709	4219	SO:0001819	synonymous_variant	3113	exon4			GATGCCGACTAGG	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.705C>G	6.37:g.33036505G>C		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	154	153	0.993506	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1	946	0.43315018315018317	350	0.7113821138211383	96	0.26519337016574585	371	0.6486013986013986	129	0.17018469656992086	C	0.676	-0.800149	0.02841	0.565232	0.178664	ENSG00000231389	ENST00000437811	.	.	.	3.4	2.51	0.30379	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.09310	P	0.999999832037	.	.	.	.	.	.	T	0.08351	-1.0726	3	.	.	.	.	7.1427	0.25564	0.1821:0.4624:0.3555:0.0	rs1042434;rs3181901;rs17850578	.	.	.	G	103	.	.	R	-	1	2	HLA-DPA1	33144483	0.085000	0.21516	0.599000	0.28851	0.111000	0.19643	0.007000	0.13174	0.212000	0.20703	-0.847000	0.03039	CGG	G|0.663;C|0.337	0.337	strong		0.582	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33036505	G	C	33036505	2	2	22	1	0	0	0	0	0	0	0	1	7202	1045	37	4		4	HLA-DPA1	6	33036505	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70	33036505	138078562	3647	8755			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036853	33036853	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaccctgcagtcatagaAgtcctctgctgagggcacaa	9	14	2	2	rs1042308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036853A>C	ENST00000419277.1	-	4	700	c.571T>G	c.(571-573)Ttc>Gtc	p.F191V	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.F191V|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	191	Alpha-2.|Ig-like C1-type.		F -> V (in allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*04:01; dbSNP:rs1042308).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CAGTCATAGAAGTCCTCTGCT	0.547													A|||	2194	0.438099	0.5802	0.2839	5008	,	,		19836	0.6786		0.1889	False		,,,				2504	0.364				p.F191V		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.T571G						PASS	.	A	VAL/PHE,VAL/PHE,VAL/PHE	1427,1593		327,773,410	196	217	209		571,571,571	-3.7	0	6	dbSNP_86	209	960,4458		72,816,1821	yes	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	50,50,50	399,1589,2231	CC,CA,AA		17.7187,47.2517,28.2887	benign,benign,benign	191/261,191/261,191/261	33036853	2387,6051	1510	2709	4219	SO:0001583	missense	3113	exon3			CATAGAAGTCCTC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.571T>G	6.37:g.33036853A>C	ENSP00000393566:p.Phe191Val	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	169	167	0.988166	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	864|864	0.3956043956043956|0.3956043956043956	275|275	0.5589430894308943|0.5589430894308943	89|89	0.24585635359116023|0.24585635359116023	371|371	0.6486013986013986|0.6486013986013986	129|129	0.17018469656992086|0.17018469656992086	A|A	0.003|0.003	-2.491932|-2.491932	0.00161|0.00161	0.472517|0.472517	0.177187|0.177187	ENSG00000231389|ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337|ENST00000437811	T;T;T|.	0.02579|.	4.24;4.24;4.24|.	3.4|3.4	-3.7|-3.7	0.04437|0.04437	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	0.524360|.	0.17386|.	N|.	0.176127|.	T|T	0.02380|0.02380	0.0073|0.0073	N|N	0.00738|0.00738	-1.235|-1.235	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.43426|0.43426	-0.9392|-0.9392	9|4	0.02654|.	T|.	1|.	.|.	8.0008|8.0008	0.30295|0.30295	0.7188:0.1825:0.0:0.0987|0.7188:0.1825:0.0:0.0987	rs1042308;rs2308933;rs45587632;rs52831627|rs1042308;rs2308933;rs45587632;rs52831627	191|.	P20036|.	DPA1_HUMAN|.	V|R	191;191;158;191|58	ENSP00000393566:F191V;ENSP00000402872:F191V;ENSP00000390929:F191V|.	ENSP00000393566:F191V|.	F|L	-|-	1|2	0|0	HLA-DPA1|HLA-DPA1	33144831|33144831	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	-0.160000|-0.160000	0.10041|0.10041	-0.501000|-0.501000	0.06605|0.06605	-0.178000|-0.178000	0.13098|0.13098	TTC|CTT	T|0.000;G|0.000;C|0.321;N|0.000;A|0.679	0.321	strong		0.547	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33036853	A	C	33036853	3	2	22	1	0	0	0	0	1	0	0	0	7202	72	3	5	219	5	HLA-DPA1	6	33036853	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	348	33036853	138078214	3648	8756			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036950	33036950	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcgacaccctcagtgacCagctccccgttgcacagcca					rs386699855|rs2308931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036950C>T	ENST00000419277.1	-	4	603	c.474G>A	c.(472-474)ctG>ctA	p.L158L	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Silent_p.L158L	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	158	Alpha-2.|Ig-like C1-type.		L -> P (in allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*04:01; dbSNP:rs2308930).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCAGTGACCAGCTCCCCGT	0.567													C|||	980	0.195687	0.239	0.2147	5008	,	,		18947	0.1319		0.1183	False		,,,				2504	0.2689				p.L158L		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.G474A						PASS	.	C	,,	526,2492		50,426,1033	166	189	181		474,474,474	0.4	0	6	dbSNP_121	181	537,4879		26,485,2197	no	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	76,911,3230	TT,TC,CC		9.9151,17.4288,12.6037	,,	158/261,158/261,158/261	33036950	1063,7371	1509	2708	4217	SO:0001819	synonymous_variant	3113	exon3			AGTGACCAGCTCC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.474G>A	6.37:g.33036950C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	111	52	0.468468	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1	294	0.1346153846153846	94	0.1910569105691057	58	0.16022099447513813	72	0.1258741258741259	70	0.09234828496042216	C	1.623	-0.520905	0.04171	0.174288	0.099151	ENSG00000231389	ENST00000437811	.	.	.	3.4	0.388	0.16264	.	.	.	.	.	T	0.19087	0.0458	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.13045	-1.0524	3	.	.	.	.	5.6131	0.17416	0.0:0.423:0.0:0.577	rs2308931;rs11551424	.	.	.	S	26	.	.	G	-	1	0	HLA-DPA1	33144928	0.000000	0.05858	0.011000	0.14972	0.406000	0.30931	-1.401000	0.02502	0.178000	0.19917	0.643000	0.83706	GGT	C|0.869;T|0.131	0.131	strong		0.567	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33036950	C	T	33036950	2	4	22	1	0	0	0	0	0	0	0	1	7202	581	21	2		2	HLA-DPA1	6	33036950	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97	33036950	138078117	3649	8757	173	3	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036951	33036951	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgacaccctcagtgaccAgctccccgttgcacagccac					rs386699855|rs2308930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036951A>G	ENST00000419277.1	-	4	602	c.473T>C	c.(472-474)cTg>cCg	p.L158P	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.L158P|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	158	Alpha-2.|Ig-like C1-type.		L -> P (in allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*04:01; dbSNP:rs2308930).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CTCAGTGACCAGCTCCCCGTT	0.567													G|||	2199	0.439097	0.5802	0.2839	5008	,	,		19044	0.6796		0.1899	False		,,,				2504	0.3671				p.L158P		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.T473C						PASS	.	G	PRO/LEU,PRO/LEU,PRO/LEU	1408,1610		327,754,428	163	188	179		473,473,473	1.5	0	6	dbSNP_126	179	937,4479		72,793,1843	no	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	98,98,98	399,1547,2271	GG,GA,AA		17.3006,46.6534,27.8041	benign,benign,benign	158/261,158/261,158/261	33036951	2345,6089	1509	2708	4217	SO:0001583	missense	3113	exon3			GTGACCAGCTCCC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.473T>C	6.37:g.33036951A>G	ENSP00000393566:p.Leu158Pro	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	830	0.38003663003663	264	0.5365853658536586	80	0.22099447513812154	364	0.6363636363636364	122	0.16094986807387862	G	0.004	-2.279822	0.00254	0.466534	0.173006	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.02656	4.21;4.21;4.21	3.4	1.52	0.23074	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.841204	0.10189	N	0.704860	T	0.00144	0.0004	N	0.00066	-2.3	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.02654	T	1	.	3.676	0.08292	0.3205:0.0:0.5087:0.1708	rs2308930	158	P20036	DPA1_HUMAN	P	158;158;125;158	ENSP00000393566:L158P;ENSP00000402872:L158P;ENSP00000390929:L158P	ENSP00000393566:L158P	L	-	2	0	HLA-DPA1	33144929	0.000000	0.05858	0.007000	0.13788	0.408000	0.30992	-1.645000	0.02000	-0.065000	0.13021	-0.131000	0.14894	CTG	A|0.698;G|0.302	0.302	strong		0.567	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		G	33036951	A	G	33036951	3	3	22	1	0	0	0	0	1	0	0	0	7202	188	7	3	317	3	HLA-DPA1	6	33036951	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	33036951	138078116	3650	8758	173	3	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036959	33036959	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcagtgaccagctccccGttgcacagccacgtgacgtt					rs201076982|rs2308929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036959G>A	ENST00000419277.1	-	4	594	c.465C>T	c.(463-465)aaC>aaT	p.N155N	HLA-DPA1_ENST00000428995.1_Silent_p.N155N|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	155	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCAGCTCCCCGTTGCACAGCC	0.567													G|||	2199	0.439097	0.5802	0.2839	5008	,	,		18975	0.6796		0.1899	False		,,,				2504	0.3671				p.N155N		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.C465T						PASS	.	G	,,	1420,1600		327,766,417	156	180	172		465,465,465	-6.8	0	6	dbSNP_126	172	962,4454		72,818,1818	no	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	399,1584,2235	AA,AG,GG		17.7622,47.0199,28.2361	,,	155/261,155/261,155/261	33036959	2382,6054	1510	2708	4218	SO:0001819	synonymous_variant	3113	exon3			CTCCCCGTTGCAC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.465C>T	6.37:g.33036959G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1	864	0.3956043956043956	274	0.556910569105691	89	0.24585635359116023	371	0.6486013986013986	130	0.17150395778364116	G	3.309	-0.141181	0.06669	0.470199	0.177622	ENSG00000231389	ENST00000437811	.	.	.	3.4	-6.81	0.01704	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.18873	P	0.9999892507	.	.	.	.	.	.	T	0.14755	-1.0461	3	.	.	.	.	11.6574	0.51325	0.4795:0.0:0.5205:0.0	rs2308929;rs17850580	.	.	.	W	23	.	.	R	-	1	2	HLA-DPA1	33144937	0.958000	0.32768	0.019000	0.16419	0.560000	0.35617	0.053000	0.14184	-1.606000	0.01591	-0.481000	0.04817	CGG	G|0.695;A|0.305	0.305	strong		0.567	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		A	33036959	G	A	33036959	2	1	22	1	0	0	0	0	0	0	0	1	7202	1136	40	1		1	HLA-DPA1	6	33036959	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8	33036959	138078108	3651	8759	173	3	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036971	33036971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccccgttgcacagccaCgtgacgttgagcactggtgg	13	13	0	2	rs2308928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036971C>T	ENST00000419277.1	-	4	582	c.453G>A	c.(451-453)acG>acA	p.T151T	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Silent_p.T151T	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	151	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TGCACAGCCACGTGACGTTGA	0.567													.|||	2198	0.438898	0.5802	0.2839	5008	,	,		19188	0.6796		0.1889	False		,,,				2504	0.3671				p.T151T		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.G453A						PASS	.	C	,,	1423,1595		327,769,413	144	168	160		453,453,453	-2	0.9	6	dbSNP_126	160	960,4456		72,816,1820	no	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	399,1585,2233	TT,TC,CC		17.7253,47.1504,28.2547	,,	151/261,151/261,151/261	33036971	2383,6051	1509	2708	4217	SO:0001819	synonymous_variant	3113	exon3			CAGCCACGTGACG	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.453G>A	6.37:g.33036971C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1	864	0.3956043956043956	274	0.556910569105691	89	0.24585635359116023	371	0.6486013986013986	130	0.17150395778364116	C	9.336	1.061867	0.19987	0.471504	0.177253	ENSG00000231389	ENST00000437811	.	.	.	3.4	-1.99	0.07457	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	P	0.9999999999999838	.	.	.	.	.	.	T	0.35649	-0.9780	3	.	.	.	.	0.2576	0.00214	0.3011:0.282:0.1489:0.2681	rs2308928;rs17850579	.	.	.	M	19	.	.	V	-	1	0	HLA-DPA1	33144949	0.000000	0.05858	0.911000	0.35937	0.725000	0.41563	-5.615000	0.00109	-0.669000	0.05289	-0.165000	0.13383	GTG	C|0.695;T|0.305	0.305	strong		0.567	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33036971	C	T	33036971	2	4	22	1	0	0	0	0	0	0	0	1	7202	523	19	1		1	HLA-DPA1	6	33036971	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	33036971	138078096	3652	8760			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33036999	33036999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcactggtgggaagaacTtgtcaatgtggcagatgagg	16	5	1	4	rs1042190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33036999T>C	ENST00000419277.1	-	4	554	c.425A>G	c.(424-426)aAg>aGg	p.K142R	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.K142R	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	142	Alpha-2.|Ig-like C1-type.		K -> R (in allele DPA1*02:01 and allele DPA1*02:02; dbSNP:rs1042190).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TGGGAAGAACTTGTCAATGTG	0.592													.|||	2158	0.430911	0.5772	0.2824	5008	,	,		19467	0.6508		0.1889	False		,,,				2504	0.3609				p.K142R		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.A425G						PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS	1386,1632		317,752,440	115	137	129		425,425,425	0.8	0.9	6	dbSNP_86	129	954,4460		70,814,1823	yes	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	26,26,26	387,1566,2263	CC,CT,TT		17.621,45.9245,27.7514	benign,benign,benign	142/261,142/261,142/261	33036999	2340,6092	1509	2707	4216	SO:0001583	missense	3113	exon3			AAGAACTTGTCAA	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.425A>G	6.37:g.33036999T>C	ENSP00000393566:p.Lys142Arg	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	847	0.38782051282051283	272	0.5528455284552846	89	0.24585635359116023	356	0.6223776223776224	130	0.17150395778364116	T	13.63	2.295035	0.40594	0.459245	0.17621	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.08546	6.24;6.24;3.08	3.4	0.821	0.18799	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.154150	0.43919	U	0.000507	T	0.03263	0.0095	L	0.56280	1.765	0.40470	P	0.01966800000000002	B	0.21821	0.061	B	0.29440	0.102	T	0.23297	-1.0192	9	0.66056	D	0.02	.	6.4481	0.21887	0.0:0.2451:0.0:0.7549	rs1042190;rs2308926;rs45518435;rs52798036;rs1042190	142	P20036	DPA1_HUMAN	R	142;142;109;142	ENSP00000393566:K142R;ENSP00000402872:K142R;ENSP00000390929:K142R	ENSP00000393566:K142R	K	-	2	0	HLA-DPA1	33144977	0.919000	0.31177	0.935000	0.37517	0.984000	0.73092	0.797000	0.26999	0.038000	0.15604	0.523000	0.50628	AAG	.	.	weak		0.592	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33036999	T	C	33036999	3	2	22	1	0	0	0	0	1	0	0	0	7202	1609	56	3	365	3	HLA-DPA1	6	33036999	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28	33036999	138078068	3653	8761			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037419	33037419	+	Splice_Site	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcaaagatagggcgtaccGttggtggcctgagtgtggtt					rs17850584|rs1126543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037419G>A	ENST00000419277.1	-	3	474	c.345C>T	c.(343-345)aaC>aaT	p.N115N	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Splice_Site_p.N115N	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	115	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGGGCGTACCGTTGGTGGCCT	0.542													.|||	2200	0.439297	0.5809	0.2853	5008	,	,		19932	0.6796		0.1889	False		,,,				2504	0.3671				p.N115N		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.C345T						PASS	.	A	,,	1387,1633		327,733,450	137	126	130		345,345,345	-3.5	0	6	dbSNP_86	130	942,4476		70,802,1837	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	397,1535,2287	AA,AG,GG		17.3865,45.9272,27.6013	,,	115/261,115/261,115/261	33037419	2329,6109	1510	2709	4219	SO:0001630	splice_region_variant	3113	exon2			CGTACCGTTGGTG	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.346+1C>T	6.37:g.33037419G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1																																																																																			G|0.700;A|0.300	0.300	strong		0.542	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554	Silent	A	33037419	G	A	33037419	5	1	22	1	0	0	0	0	0	0	1	0	7202	1159	40	1	449	1	HLA-DPA1	6	33037419	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	420	33037419	138077648	3654	8762	174	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037424	33037424	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatagggcgtaccgttggTggcctgagtgtggttggaac					rs1126542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037424T>C	ENST00000419277.1	-	3	469	c.340A>G	c.(340-342)Acc>Gcc	p.T114A	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.T114A	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	114	Alpha-1.		T -> A (in allele DPA1*01:05, allele DPA1*02:01, allele DPA1*02:02, allele DPA1*02:03, allele DPA1*02:04 and allele DPA1*04:01; dbSNP:rs1126542).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GTACCGTTGGTGGCCTGAGTG	0.542													.|||	2199	0.439097	0.5802	0.2853	5008	,	,		19850	0.6796		0.1889	False		,,,				2504	0.3671				p.T114A		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.A340G						PASS	.						140	128	132					6																	33037424		1510	2709	4219	SO:0001583	missense	3113	exon2			CGTTGGTGGCCTG	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.340A>G	6.37:g.33037424T>C	ENSP00000393566:p.Thr114Ala	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	137	137	1	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	858	0.39285714285714285	270	0.5487804878048781	88	0.2430939226519337	370	0.6468531468531469	130	0.17150395778364116	C	0.073	-1.198952	0.01581	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000453337	T;T;T	0.00816	5.66;5.66;5.66	3.11	-6.22	0.02058	MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);Immunoglobulin-like fold (1);	1.036210	0.07665	N	0.934335	T	0.00328	0.0010	M	0.69523	2.12	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.34782	T	0.22	.	0.6691	0.00856	0.1954:0.1808:0.2729:0.351	rs1126542;rs2308922;rs3181639;rs12722008;rs17424589	114	P20036	DPA1_HUMAN	A	114	ENSP00000393566:T114A;ENSP00000402872:T114A;ENSP00000390929:T114A	ENSP00000393566:T114A	T	-	1	0	HLA-DPA1	33145402	0.000000	0.05858	0.063000	0.19743	0.003000	0.03518	-1.634000	0.02020	-3.515000	0.00149	-1.145000	0.01858	ACC	T|0.680;G|0.000;C|0.319;A|0.000	0.319	strong		0.542	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33037424	T	C	33037424	3	2	22	1	0	0	0	0	1	0	0	0	7202	1696	59	2	454	2	HLA-DPA1	6	33037424	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	33037424	138077643	3655	8763	174	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037522	33037522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcctcaaaggaaaaggctTggccaaactcctccagatgc	10	12	1	1	rs1042178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037522T>C	ENST00000419277.1	-	3	371	c.242A>G	c.(241-243)cAa>cGa	p.Q81R	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.Q81R	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	81	Alpha-1.		Q -> R (in allele DPA1*01:08, allele DPA1*02:01, allele DPA1*02:02, allele DPA1*02:03, allele DPA1*02:04 and allele DPA1*04:01; dbSNP:rs1042178).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GGAAAAGGCTTGGCCAAACTC	0.478													.|||	2196	0.438498	0.5809	0.281	5008	,	,		19699	0.6796		0.1869	False		,,,				2504	0.3681				p.Q81R		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.A242G						PASS	.	C	ARG/GLN,ARG/GLN,ARG/GLN	1412,1610		328,756,427	85	96	92		242,242,242	-4.5	0	6	dbSNP_86	92	953,4465		72,809,1828	no	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	43,43,43	400,1565,2255	CC,CT,TT		17.5895,46.724,28.0213	benign,benign,benign	81/261,81/261,81/261	33037522	2365,6075	1511	2709	4220	SO:0001583	missense	3113	exon2			AAGGCTTGGCCAA	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.242A>G	6.37:g.33037522T>C	ENSP00000393566:p.Gln81Arg	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	127	124	0.976378	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	862	0.3946886446886447	276	0.5609756097560976	87	0.24033149171270718	371	0.6486013986013986	128	0.16886543535620052	C	0.008	-1.876631	0.00537	0.46724	0.175895	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00717	5.79;5.79;5.79	3.0	-4.48	0.03515	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.767258	0.11484	N	0.559428	T	0.00144	0.0004	N	0.04705	-0.18	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	9	0.05525	T	0.97	.	13.2798	0.60208	0.0:0.1377:0.0:0.8623	rs1042178;rs2308915;rs3173302;rs16868557;rs16868559;rs45614833;rs52792876;rs60098014;rs1042178	81	P20036	DPA1_HUMAN	R	81	ENSP00000393566:Q81R;ENSP00000402872:Q81R;ENSP00000390929:Q81R	ENSP00000393566:Q81R	Q	-	2	0	HLA-DPA1	33145500	0.000000	0.05858	0.000000	0.03702	0.683000	0.39861	-3.957000	0.00325	-1.675000	0.01459	-1.124000	0.02001	CAA	T|0.688;C|0.310	0.310	strong		0.478	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33037522	T	C	33037522	3	2	22	1	0	0	0	0	1	0	0	0	7202	1812	63	2	552	2	HLA-DPA1	6	33037522	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	98	33037522	138077545	3656	8764			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037557	33037557	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgccagacggtctccttCttgtccagatccacatagaa					rs1042177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037557C>T	ENST00000419277.1	-	3	336	c.207G>A	c.(205-207)aaG>aaA	p.K69K	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Silent_p.K69K	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	69	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CGGTCTCCTTCTTGTCCAGAT	0.453													.|||	1181	0.235823	0.3775	0.2363	5008	,	,		19499	0.1022		0.1551	False		,,,				2504	0.2648				p.K69K		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.G207A						PASS	.	C	,,	807,2215		129,549,833	69	91	83		207,207,207	3	0.8	6	dbSNP_86	83	718,4700		45,628,2036	no	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	174,1177,2869	TT,TC,CC		13.2521,26.7042,18.0687	,,	69/261,69/261,69/261	33037557	1525,6915	1511	2709	4220	SO:0001819	synonymous_variant	3113	exon2			CTCCTTCTTGTCC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.207G>A	6.37:g.33037557C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1																																																																																			C|0.814;T|0.186	0.186	strong		0.453	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33037557	C	T	33037557	2	4	22	1	0	0	0	0	0	0	0	1	7202	912	32	2		2	HLA-DPA1	6	33037557	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35	33037557	138077510	3657	8765	175	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037560	33037560	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccagacggtctccttcttGtccagatccacatagaacat					rs1042176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037560G>A	ENST00000419277.1	-	3	333	c.204C>T	c.(202-204)gaC>gaT	p.D68D	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Silent_p.D68D	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	68	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCTCCTTCTTGTCCAGATCCA	0.463													.|||	1301	0.259784	0.3971	0.2507	5008	,	,		19428	0.12		0.163	False		,,,				2504	0.3241				p.D68D		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.C204T						PASS	.	G	,,	908,2114		141,626,744	67	90	82		204,204,204	2.1	0.9	6	dbSNP_86	82	808,4610		50,708,1951	no	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	191,1334,2695	AA,AG,GG		14.9133,30.0463,20.3318	,,	68/261,68/261,68/261	33037560	1716,6724	1511	2709	4220	SO:0001819	synonymous_variant	3113	exon2			CTTCTTGTCCAGA	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.204C>T	6.37:g.33037560G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	135	133	0.985185	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1																																																																																			G|0.802;A|0.198	0.198	strong		0.463	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		A	33037560	G	A	33037560	2	1	22	1	0	0	0	0	0	0	0	1	7202	1368	48	2		2	HLA-DPA1	6	33037560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	33037560	138077507	3658	8766	175	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037579	33037579	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccagatccacatagaacAtctcatcttcatcaaattca					rs2308912|rs36013091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037579A>T	ENST00000419277.1	-	3	314	c.185T>A	c.(184-186)aTg>aAg	p.M62K	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.M62K|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	62	Alpha-1.		M -> K (in dbSNP:rs2308912).|M -> L (in dbSNP:rs2308911).|M -> Q (in allele DPA1*01:06, allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*02:04; requires 2 nucleotide substitutions; dbSNP:rs36013091).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CACATAGAACATCTCATCTTC	0.483													.|||	2159	0.43111	0.5794	0.2795	5008	,	,		19351	0.6508		0.1869	False		,,,				2504	0.363				p.M62K		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.T185A						PASS	.	A	LYS/MET,LYS/MET,LYS/MET	53,2967		2,49,1459	62	87	78		185,185,185	-6	0	6	dbSNP_126	78	9,5409		0,9,2700	yes	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	95,95,95	2,58,4159	TT,TA,AA		0.1661,1.755,0.7348	possibly-damaging,possibly-damaging,possibly-damaging	62/261,62/261,62/261	33037579	62,8376	1510	2709	4219	SO:0001583	missense	3113	exon2			TAGAACATCTCAT	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.185T>A	6.37:g.33037579A>T	ENSP00000393566:p.Met62Lys	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	762	0.3489010989010989	239	0.48577235772357724	78	0.2154696132596685	331	0.5786713286713286	114	0.1503957783641161	A	0.028	-1.354560	0.01256	0.01755	0.001661	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00737	5.76;5.76;5.76	3.0	-5.99	0.02213	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	2.490280	0.02659	U	0.107291	T	0.00440	0.0014	L	0.41415	1.275	0.80722	P	0.0	B	0.26602	0.154	B	0.42995	0.404	T	0.32719	-0.9896	9	0.30854	T	0.27	.	10.1803	0.42963	0.4129:0.0:0.0:0.5871	rs2308912;rs12722002	62	P20036	DPA1_HUMAN	K	62	ENSP00000393566:M62K;ENSP00000402872:M62K;ENSP00000390929:M62K	ENSP00000393566:M62K	M	-	2	0	HLA-DPA1	33145557	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.558000	0.05978	-3.072000	0.00253	-1.638000	0.00776	ATG	.	.	alt		0.483	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33037579	A	T	33037579	3	4	22	1	0	0	0	0	1	0	0	0	7202	217	8	5	609	5	HLA-DPA1	6	33037579	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19	33037579	138077488	3659	8767	176	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037580	33037580	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagatccacatagaacaTctcatcttcatcaaattcaa					rs36013091|rs2308911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037580T>G	ENST00000419277.1	-	3	313	c.184A>C	c.(184-186)Atg>Ctg	p.M62L	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.M62L	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	62	Alpha-1.		M -> K (in dbSNP:rs2308912).|M -> L (in dbSNP:rs2308911).|M -> Q (in allele DPA1*01:06, allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*02:04; requires 2 nucleotide substitutions; dbSNP:rs36013091).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						ACATAGAACATCTCATCTTCA	0.488													.|||	2159	0.43111	0.5794	0.2795	5008	,	,		19572	0.6508		0.1869	False		,,,				2504	0.363				p.M62L		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.A184C						PASS	.	T	LEU/MET,LEU/MET,LEU/MET	45,2975		3,39,1468	62	87	78		184,184,184	-6	0	6	dbSNP_126	78	7,5411		0,7,2702	no	missense,missense,missense	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	15,15,15	3,46,4170	GG,GT,TT		0.1292,1.4901,0.6163	benign,benign,benign	62/261,62/261,62/261	33037580	52,8386	1510	2709	4219	SO:0001583	missense	3113	exon2			AGAACATCTCATC	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.184A>C	6.37:g.33037580T>G	ENSP00000393566:p.Met62Leu	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	140	139	0.992857	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	760	0.34798534798534797	239	0.48577235772357724	78	0.2154696132596685	329	0.5751748251748252	114	0.1503957783641161	T	0.001	-3.735704	0.00005	0.014901	0.001292	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00623	6.15;6.15;6.15	3.0	-5.99	0.02213	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	2.490280	0.02659	U	0.107291	T	0.00109	0.0003	N	0.13003	0.285	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48502	-0.9030	9	0.02654	T	1	.	2.9736	0.05930	0.092:0.1781:0.3519:0.378	rs2308911;rs12722001;rs52808337	62	P20036	DPA1_HUMAN	L	62	ENSP00000393566:M62L;ENSP00000402872:M62L;ENSP00000390929:M62L	ENSP00000393566:M62L	M	-	1	0	HLA-DPA1	33145558	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-2.357000	0.01086	-3.633000	0.00129	-1.423000	0.01107	ATG	T|0.716;G|0.284	0.284	strong		0.488	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		G	33037580	T	G	33037580	3	3	22	1	0	0	0	0	1	0	0	0	7202	1435	50	5	610	5	HLA-DPA1	6	33037580	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	33037580	138077487	3660	8768	176	2	14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33037626	33037626	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcccctgttggtctatgCgtctgtacaaacgcggcata	9	12	2	0	rs1042174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33037626C>G	ENST00000419277.1	-	3	267	c.138G>C	c.(136-138)acG>acC	p.T46T	HLA-DPA1_ENST00000428995.1_Silent_p.T46T|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	46	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TTGGTCTATGCGTCTGTACAA	0.433													.|||	2309	0.461062	0.7171	0.2882	5008	,	,		20289	0.6518		0.1491	False		,,,				2504	0.362				p.T46T		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.G138C						PASS	.	G	,,	1588,1432		465,658,387	56	80	71		138,138,138	-6.2	0	6	dbSNP_86	71	710,4706		49,612,2047	yes	coding-synonymous,coding-synonymous,coding-synonymous	HLA-DPA1	NM_001242524.1,NM_001242525.1,NM_033554.3	,,	514,1270,2434	GG,GC,CC		13.1093,47.4172,27.2404	,,	46/261,46/261,46/261	33037626	2298,6138	1510	2708	4218	SO:0001819	synonymous_variant	3113	exon2			TCTATGCGTCTGT	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.138G>C	6.37:g.33037626C>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1																																																																																			C|0.687;G|0.313	0.313	strong		0.433	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		G	33037626	C	G	33037626	2	3	22	1	0	0	0	0	0	0	0	1	7202	755	27	4		4	HLA-DPA1	6	33037626	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46	33037626	138077441	3661	8769			14	43	322267	16	11	1192	N	T_G_C_A	3.486556e-11
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33048539	33048539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctacaaccgggaggagtTcgcgcgcttcgacagcgacg	13	13	1	0	rs1042117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33048539T>A	ENST00000418931.2	+	2	307	c.191T>A	c.(190-192)tTc>tAc	p.F64Y	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.F64Y|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	64	Beta-1.		F -> L (in allele DPB1*02:02, allele DPB1*02:03, allele DPB1*05:01, allele DPB1*15:02, allele DPB1*17:02, allele DPB1*19:02, allele DPB1*21:01, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*34:01, allele DPB1*36:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*48:01, allele DPB1*58:01, allele DPB1*62:01, allele DPB1*63:01, allele DPB1*95:01 and allele DPB1*97:01; dbSNP:rs9277348).|F -> Y (in allele DPB1*01:01, allele DPB1*01:02, allele DPB1*09:02, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*15:01, allele DPB1*20:02, allele DPB1*21:02, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*39:01, allele DPB1*40:01, allele DPB1*49:01, allele DPB1*53:01, allele DPB1*65:01, allele DPB1*74:01, allele DPB1*85:01, allele DPB1*89:01 and allele DPB1*96:01; dbSNP:rs1042117).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGGGAGGAGTTCGCGCGCTTC	0.612													.|||	1045	0.208666	0.4781	0.1124	5008	,	,		14806	0.0863		0.0944	False		,,,				2504	0.1564				p.F64Y		Atlas-SNP	.											HLA-DPB1,rectum,carcinoma,-1,1	HLA-DPB1	28	1	0			c.T191A						PASS	.	A	,,TYR/PHE	1181,1841		220,741,550	69	70	69		,,191	-7.9	0	6	dbSNP_86	69	519,4899		24,471,2214	no	utr-5,utr-5,missense	HLA-DPA1,HLA-DPB1	NM_001242524.1,NM_001242525.1,NM_002121.5	,,22	244,1212,2764	AA,AT,TT		9.5792,39.0801,20.1422	,,benign	,,64/259	33048539	1700,6740	1511	2709	4220	SO:0001583	missense	3115	exon2			AGGAGTTCGCGCG		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.191T>A	6.37:g.33048539T>A	ENSP00000408146:p.Phe64Tyr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	58	43	0.741379	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	386|386	0.17673992673992675|0.17673992673992675	233|233	0.4735772357723577|0.4735772357723577	41|41	0.1132596685082873|0.1132596685082873	39|39	0.06818181818181818|0.06818181818181818	73|73	0.09630606860158311|0.09630606860158311	A|A	0.008|0.008	-1.922143|-1.922143	0.00498|0.00498	0.390801|0.390801	0.095792|0.095792	ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835|ENST00000416804	T;T;T|.	0.00262|.	8.4;8.4;8.4|.	3.94|3.94	-7.87|-7.87	0.01183|0.01183	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);|.	1.117700|.	0.06944|.	N|.	0.813382|.	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.10450|.	0.005;0.003|.	T|T	0.13388|0.13388	-1.0511|-1.0511	9|4	0.02654|.	T|.	1|.	.|.	6.7891|6.7891	0.23689|0.23689	0.5161:0.0:0.1925:0.2914|0.5161:0.0:0.1925:0.2914	rs1042117;rs3173298;rs16868592;rs17221108;rs58131392|rs1042117;rs3173298;rs16868592;rs17221108;rs58131392	74;64|.	Q59GY1;P04440|.	.;DPB1_HUMAN|.	Y|T	64;64;64;41|31	ENSP00000408146:F64Y;ENSP00000439674:F64Y;ENSP00000412654:F41Y|.	ENSP00000389210:F64Y|.	F|S	+|+	2|1	0|0	HLA-DPB1|HLA-DPB1	33156517|33156517	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.771000|-4.771000	0.00188|0.00188	-3.676000|-3.676000	0.00122|0.00122	-5.201000|-5.201000	0.00001|0.00001	TTC|TCG	T|0.803;A|0.197	0.197	strong		0.612	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33048539	T	A	33048539	3	1	22	1	0	0	0	0	1	0	0	0	7203	1783	62	5	197	5	HLA-DPB1	6	33048539	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10913	33048539	138066528	3662	8770										
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33048640	33048640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaggacatcctggaggagAagcgggcagtgccggacagg	18	8	0	2	rs1042140	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33048640A>G	ENST00000418931.2	+	2	408	c.292A>G	c.(292-294)Aag>Gag	p.K98E	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.K98E|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	98	Beta-1.		K -> E (in allele DPB1*02:01, allele DPB1*02:02, allele DPB1*02:03, allele DPB1*04:03, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*18:02, allele DPB1*19:01, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*26:02, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*32:01, allele DPB1*33:01, allele DPB1*37:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*46:01, allele DPB1*47:01, allele DPB1*48:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*58:01, allele DPB1*71:01, allele DPB1*81:01, allele DPB1*86:01, allele DPB1*88:01, allele DPB1*93:01 and allele DPB1*95:01; dbSNP:rs1042140).|K -> R (in allele DPB1*11:01, allele DPB1*15:01, allele DPB1*69:01 and allele DPB1*74:01; dbSNP:rs12722027).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCTGGAGGAGAAGCGGGCAGT	0.687													.|||	1580	0.315495	0.3064	0.2161	5008	,	,		13279	0.4206		0.2227	False		,,,				2504	0.3855				p.K98E		Atlas-SNP	.											.	HLA-DPB1	28	.	0			c.A292G	GRCh37	CM930400	HLA-DPB1	M	rs1042140	PASS	.	A	GLU/LYS	751,2271		96,559,856	41	43	42		292	-8	0	6	dbSNP_86	42	1214,4202		119,976,1613	yes	missense	HLA-DPB1	NM_002121.5	56	215,1535,2469	GG,GA,AA		22.4151,24.8511,23.2875	benign	98/259	33048640	1965,6473	1511	2708	4219	SO:0001583	missense	3115	exon2			GAGGAGAAGCGGG		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.292A>G	6.37:g.33048640A>G	ENSP00000408146:p.Lys98Glu	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	50	14	0.28	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	594	0.27197802197802196	128	0.2601626016260163	74	0.20441988950276244	244	0.42657342657342656	148	0.19525065963060687	A	10.03	1.240080	0.22711	0.248511	0.224151	ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	T;T;T	0.00327	8.09;8.09;8.09	4.02	-8.04	0.01110	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	5.998850	0.00465	N	0.000108	T	0.00039	0.0001	N	0.26162	0.8	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.28933	-1.0028	9	0.29301	T	0.29	.	8.8377	0.35121	0.1762:0.3554:0.4684:0.0	rs1042140;rs3173292;rs17221129	108;98	Q59GY1;P04440	.;DPB1_HUMAN	E	98;98;98;75	ENSP00000408146:K98E;ENSP00000439674:K98E;ENSP00000412654:K75E	ENSP00000389210:K98E	K	+	1	0	HLA-DPB1	33156618	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.374000	0.00493	-2.124000	0.00822	-1.336000	0.01259	AAG	A|0.758;C|0.000;G|0.242;T|0.000	0.242	strong		0.687	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		G	33048640	A	G	33048640	3	3	22	1	0	0	0	0	1	0	0	0	7203	247	9	2	298	2	HLA-DPB1	6	33048640	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	101	33048640	138066427	3663	8771										
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33048661	33048661	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgggcagtgccggacaggAtgtgcagacacaactacgag					rs386699871|rs1042151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33048661A>G	ENST00000418931.2	+	2	429	c.313A>G	c.(313-315)Atg>Gtg	p.M105V	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.M105V|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	105	Beta-1.		M -> I (in allele DPB1*08:02, allele DPB1*09:02, allele DPB1*13:01, allele DPB1*13:02 and allele DPB1*19:01; dbSNP:rs1042153).|M -> V (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*17:02, allele DPB1*21:02, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*29:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*88:01, allele DPB1*90:01 and allele DPB1*92:01; dbSNP:rs1042151). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.M105V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GCCGGACAGGATGTGCAGACA	0.706													.|||	1264	0.252396	0.416	0.2133	5008	,	,		12428	0.1171		0.2068	False		,,,				2504	0.2454				p.M105V		Atlas-SNP	.											HLA-DPB1,NS,lymphoid_neoplasm,0,1	HLA-DPB1	28	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A313G						scavenged	.						29	31	31					6																	33048661		1510	2709	4219	SO:0001583	missense	3115	exon2			GACAGGATGTGCA		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.313A>G	6.37:g.33048661A>G	ENSP00000408146:p.Met105Val	Somatic	33	9	0.272727		WXS	Illumina HiSeq	Phase_I	32	19	0.59375	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	505	0.23122710622710624	218	0.44308943089430897	66	0.18232044198895028	72	0.1258741258741259	149	0.19656992084432717	A	0.010	-1.789266	0.00623	.	.	ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	T;T;T	0.00281	8.32;8.32;8.32	3.49	-6.98	0.01611	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.303120	0.02598	N	0.100781	T	0.00012	0.0000	N	0.00016	-2.855	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.40365	-0.9567	9	0.08837	T	0.75	.	3.2203	0.06713	0.5003:0.1109:0.2764:0.1123	rs1042151;rs3173291;rs11551417;rs17221143	71;115;105	A2ALJ6;Q59GY1;P04440	.;.;DPB1_HUMAN	V	105;105;105;82	ENSP00000408146:M105V;ENSP00000439674:M105V;ENSP00000412654:M82V	ENSP00000389210:M105V	M	+	1	0	HLA-DPB1	33156639	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.609000	0.00886	-1.748000	0.01332	-2.039000	0.00418	ATG	A|0.776;G|0.224	0.224	strong		0.706	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		G	33048661	A	G	33048661	3	3	22	1	0	0	0	0	1	0	0	0	7203	333	12	2	319	2	HLA-DPB1	6	33048661	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21	33048661	138066406	3664	8772	177	2								
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33048663	33048663	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggcagtgccggacaggatGtgcagacacaactacgagct					rs1042153|rs386699871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33048663G>A	ENST00000418931.2	+	2	431	c.315G>A	c.(313-315)atG>atA	p.M105I	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.M105I|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	105	Beta-1.		M -> I (in allele DPB1*08:02, allele DPB1*09:02, allele DPB1*13:01, allele DPB1*13:02 and allele DPB1*19:01; dbSNP:rs1042153).|M -> V (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*17:02, allele DPB1*21:02, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*29:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*88:01, allele DPB1*90:01 and allele DPB1*92:01; dbSNP:rs1042151). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGGACAGGATGTGCAGACACA	0.701													.|||	1549	0.309305	0.4607	0.2507	5008	,	,		12515	0.2123		0.2296	False		,,,				2504	0.3282				p.M105I		Atlas-SNP	.											HLA-DPB1,NS,lymphoid_neoplasm,+2,1	HLA-DPB1	28	1	0			c.G315A						scavenged	.						29	30	30					6																	33048663		1510	2709	4219	SO:0001583	missense	3115	exon2			CAGGATGTGCAGA		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.315G>A	6.37:g.33048663G>A	ENSP00000408146:p.Met105Ile	Somatic	33	9	0.272727		WXS	Illumina HiSeq	Phase_I	31	18	0.580645	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	602|602	0.27564102564102566|0.27564102564102566	239|239	0.48577235772357724|0.48577235772357724	82|82	0.2265193370165746|0.2265193370165746	116|116	0.20279720279720279|0.20279720279720279	165|165	0.21767810026385223|0.21767810026385223	G|G	11.30|11.30	1.597043|1.597043	0.28445|0.28445	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	.|T;T;T	.|0.00311	.|8.15;8.15;8.15	4.02|4.02	0.0296|0.0296	0.14163|0.14163	.|MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	.|2.303120	.|0.02598	.|U	.|0.100781	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.02181|0.02181	-0.65|-0.65	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.10450	.|0.001;0.004;0.005	T|T	0.28396|0.28396	-1.0045|-1.0045	4|9	.|0.52906	.|T	.|0.07	.|.	5.9122|5.9122	0.19035|0.19035	0.1929:0.4754:0.3317:0.0|0.1929:0.4754:0.3317:0.0	rs1042153;rs3173290;rs17214748;rs17420330;rs17851009|rs1042153;rs3173290;rs17214748;rs17420330;rs17851009	.|71;115;105	.|A2ALJ6;Q59GY1;P04440	.|.;.;DPB1_HUMAN	Y|I	72|105;105;105;82	.|ENSP00000408146:M105I;ENSP00000439674:M105I;ENSP00000412654:M82I	.|ENSP00000389210:M105I	C|M	+|+	2|3	0|0	HLA-DPB1|HLA-DPB1	33156641|33156641	0.030000|0.030000	0.19436|0.19436	0.450000|0.450000	0.26969|0.26969	0.008000|0.008000	0.06430|0.06430	0.177000|0.177000	0.16801|0.16801	0.105000|0.105000	0.17753|0.17753	-0.134000|-0.134000	0.14843|0.14843	TGT|ATG	G|0.755;A|0.245	0.245	strong		0.701	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33048663	G	A	33048663	3	1	22	1	0	0	0	0	1	0	0	0	7203	1377	48	2	321	2	HLA-DPB1	6	33048663	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	33048663	138066404	3665	8773	177	2								
HLA-DPB1	3115	hgsc.bcm.edu	37	chr6	33053577	33053577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacagtctgattctgcccGgagtaagacattgacgggag	14	9	2	3	rs9276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33053577G>A	ENST00000418931.2	+	4	784	c.668G>A	c.(667-669)cGg>cAg	p.R223Q		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	223	Connecting peptide.		R -> Q (in allele DPB1*01:01; dbSNP:rs9276).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GATTCTGCCCGGAGTAAGACA	0.562													.|||	688	0.13738	0.4062	0.0432	5008	,	,		19674	0.006		0.0437	False		,,,				2504	0.0726				p.R223Q		Atlas-SNP	.											.	HLA-DPB1	28	.	0			c.G668A						PASS	.	G	GLN/ARG	1369,3037	452.6+/-350.1	212,945,1046	110	93	99		668	1.8	0.2	6	dbSNP_52	99	449,8151	135.4+/-192.6	10,429,3861	yes	missense	HLA-DPB1	NM_002121.5	43	222,1374,4907	AA,AG,GG		5.2209,31.0713,13.9782	benign	223/259	33053577	1818,11188	2203	4300	6503	SO:0001583	missense	3115	exon4			CTGCCCGGAGTAA		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.668G>A	6.37:g.33053577G>A	ENSP00000408146:p.Arg223Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	92	0.989247	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	249|249	0.11401098901098901|0.11401098901098901	202|202	0.4105691056910569|0.4105691056910569	15|15	0.04143646408839779|0.04143646408839779	0|0	0.0|0.0	32|32	0.04221635883905013|0.04221635883905013	G|G	2.126|2.126	-0.400228|-0.400228	0.04865|0.04865	0.310713|0.310713	0.052209|0.052209	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000411942;ENST00000422592;ENST00000428835	.|T;T	.|0.00651	.|6.11;5.97	4.03|4.03	1.79|1.79	0.24919|0.24919	.|Immunoglobulin-like fold (1);	.|1.004450	.|0.08019	.|N	.|0.991660	T|T	0.00178|0.00178	0.0005|0.0005	L|L	0.31420|0.31420	0.93|0.93	0.33673|0.33673	P|P	0.388849|0.388849	.|B;B;B	.|0.22604	.|0.072;0.013;0.013	.|B;B;B	.|0.17722	.|0.019;0.012;0.007	T|T	0.33523|0.33523	-0.9865|-0.9865	4|9	.|0.02654	.|T	.|1	.|.	4.6833|4.6833	0.12745|0.12745	0.4318:0.0:0.5682:0.0|0.4318:0.0:0.5682:0.0	rs9276;rs1126683;rs3179771;rs3203622;rs17851012;rs52801282|rs9276;rs1126683;rs3179771;rs3203622;rs17851012;rs52801282	.|189;233;223	.|A2ALJ6;Q59GY1;P04440	.|.;.;DPB1_HUMAN	R|Q	190|223;193;34;200	.|ENSP00000408146:R223Q;ENSP00000412654:R200Q	.|ENSP00000389210:R193Q	G|R	+|+	1|2	0|0	HLA-DPB1|HLA-DPB1	33161555|33161555	0.001000|0.001000	0.12720|0.12720	0.159000|0.159000	0.22649|0.22649	0.823000|0.823000	0.46562|0.46562	-0.160000|-0.160000	0.10041|0.10041	0.298000|0.298000	0.22638|0.22638	0.643000|0.643000	0.83706|0.83706	GGA|CGG	A|0.132;C|0.000;G|0.868;T|0.000	0.132	strong		0.562	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33053577	G	A	33053577	3	1	22	1	0	0	0	0	1	0	0	0	7203	1116	39	1	682	1	HLA-DPB1	6	33053577	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4914	33053577	138061490	3666	8774										
COL11A2	1302	hgsc.bcm.edu	37	chr6	33153528	33153528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatcataataggggggctCgtagtcatagtagagagact	12	7	2	2	rs9277934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33153528C>T	ENST00000341947.2	-	6	1053	c.826G>A	c.(826-828)Gag>Aag	p.E276K	COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.E276K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E276K|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.E276K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	276	Nonhelical region.		E -> K (in dbSNP:rs9277934).		cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TAGGGGGGCTCGTAGTCATAG	0.552													C|||	1612	0.321885	0.3858	0.2738	5008	,	,		13574	0.2421		0.2773	False		,,,				2504	0.3978				p.E276K	Melanoma(1;90 116 3946 5341 17093)	Atlas-SNP	.											COL11A2,NS,lymphoid_neoplasm,+1,1	COL11A2	124	1	0			c.G826A						PASS	.	C	,LYS/GLU,	1108,1910		198,712,599	80	102	94		,826,	3.8	1	6	dbSNP_118	94	1703,3715		260,1183,1266	yes	intron,missense,intron	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,56,	458,1895,1865	TT,TC,CC		31.4323,36.7131,33.3215	,possibly-damaging,	,276/1737,	33153528	2811,5625	1509	2709	4218	SO:0001583	missense	1302	exon6			GGGGCTCGTAGTC	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.826G>A	6.37:g.33153528C>T	ENSP00000339915:p.Glu276Lys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	79	42	0.531646	NM_080680	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37		630	0.28846153846153844	192	0.3902439024390244	80	0.22099447513812154	151	0.263986013986014	207	0.27308707124010556	C	10.48	1.361885	0.24684	0.367131	0.314323	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000395197;ENST00000374712;ENST00000457788	D;D;D;D;D	0.90069	-2.32;-2.46;-2.42;-2.57;-2.61	3.8	3.8	0.43715	.	0.604873	0.13823	U	0.360284	T	0.75554	0.3865	N	0.22421	0.69	0.09310	P	1.0	D	0.56521	0.976	P	0.50825	0.651	T	0.69239	-0.5197	9	0.07644	T	0.81	.	11.3457	0.49559	0.0:1.0:0.0:0.0	rs9277934;rs17689612;rs52813564;rs60573261;rs9277934	276	P13942	COBA2_HUMAN	K	276	ENSP00000339915:E276K;ENSP00000350079:E276K;ENSP00000378623:E276K;ENSP00000363844:E276K;ENSP00000405520:E276K	ENSP00000339915:E276K	E	-	1	0	COL11A2	33261506	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	3.916000	0.56416	2.121000	0.65114	0.297000	0.19635	GAG	C|0.684;N|0.000	.	strong		0.552	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				T	33153528	C	T	33153528	3	4	22	1	0	0	0	0	1	0	0	0	3668	893	31	1	4628	1	COL11A2	6	33153528	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99951	33153528	137961539	3667	8775										
RXRB	6257	hgsc.bcm.edu	37	chr6	33162507	33162507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctccatgaggaaggtgtcGatgggggtgtcaccaatgag	15	7	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33162507G>A	ENST00000374680.3	-	10	1765	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	RXRB_ENST00000374685.4_Silent_p.I522I|RXRB_ENST00000544186.1_Silent_p.I332I|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000374708.4_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	518	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGAAGGTGTCGATGGGGGTGT	0.547																																					p.I522I		Atlas-SNP	.											RXRB,colon,carcinoma,0,1	RXRB	34	1	0			c.C1566T						PASS	.						97	88	91					6																	33162507		1511	2709	4220	SO:0001819	synonymous_variant	6257	exon10			GGTGTCGATGGGG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1554C>T	6.37:g.33162507G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	90	42	0.466667	NM_001270401	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	CCDS4768.1																																																																																			.	.	none		0.547	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		A	33162507	G	A	33162507	2	1	22	1	0	0	0	0	0	0	0	1	13764	1048	37	1		1	RXRB	6	33162507	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8979	33162507	137952560	3668	8776										
VPS52	6293	hgsc.bcm.edu	37	chr6	33235755	33235755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgctcgttcattgcccaGcagaaactgatagaagaacc	9	10	1	4	rs213199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33235755G>A	ENST00000445902.2	-	9	1038	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Silent_p.L149L|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	274					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCATTGCCCAGCAGAAACTGA	0.507													G|||	2227	0.444688	0.4501	0.3761	5008	,	,		19882	0.5823		0.3847	False		,,,				2504	0.4059				p.L274L		Atlas-SNP	.											.	VPS52	56	.	0			c.C820T						PASS	.	G		1291,1731		266,759,486	153	160	158		820	3.1	1	6	dbSNP_79	158	1948,3470		348,1252,1109	yes	coding-synonymous	VPS52	NM_022553.4		614,2011,1595	AA,AG,GG		35.9542,42.7201,38.3768		274/724	33235755	3239,5201	1511	2709	4220	SO:0001819	synonymous_variant	6293	exon9			TGCCCAGCAGAAA	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.820C>T	6.37:g.33235755G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	CCDS4770.2																																																																																			G|0.576;A|0.424	0.424	strong		0.507	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		A	33235755	G	A	33235755	2	1	22	1	0	0	0	0	0	0	0	1	17211	962	34	2		2	VPS52	6	33235755	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73248	33235755	137879312	3669	8777										
ZBTB22	9278	hgsc.bcm.edu	37	chr6	33283945	33283945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttccagatgtggcccctCcactgccaacgacaggggct	11	15	0	1	rs35663442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33283945C>G	ENST00000431845.2	-	2	900	c.749G>C	c.(748-750)gGa>gCa	p.G250A	TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.G250A|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	250			G -> A (in dbSNP:rs35663442).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGTGGCCCCTCCACTGCCAAC	0.627													C|||	54	0.0107827	0.0393	0.0029	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0				p.G250A		Atlas-SNP	.											.	ZBTB22	48	.	0			c.G749C						PASS	.	C	ALA/GLY,ALA/GLY	144,4262	101.2+/-139.8	5,134,2064	47	46	46		749,749	2.1	0.5	6	dbSNP_126	46	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ZBTB22	NM_001145338.1,NM_005453.4	60,60	5,138,6360	GG,GC,CC		0.0465,3.2683,1.1379	benign,benign	250/635,250/635	33283945	148,12858	2203	4300	6503	SO:0001583	missense	9278	exon2			GCCCCTCCACTGC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.749G>C	6.37:g.33283945C>G	ENSP00000407545:p.Gly250Ala	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	72	25	0.347222	NM_001145338	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	C	2.540	-0.306538	0.05458	0.032683	4.65E-4	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.07800	3.16;3.16	3.99	2.14	0.27477	.	0.253027	0.20824	N	0.085014	T	0.00875	0.0029	N	0.12182	0.205	0.28027	N	0.934308	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	10	0.06757	T	0.87	.	4.0063	0.09603	0.0:0.5646:0.2105:0.2249	rs35663442	250	O15209	ZBT22_HUMAN	A	250	ENSP00000404403:G250A;ENSP00000407545:G250A	ENSP00000404403:G250A	G	-	2	0	ZBTB22	33391923	0.000000	0.05858	0.470000	0.27216	0.392000	0.30506	0.632000	0.24583	0.325000	0.23359	0.297000	0.19635	GGA	C|0.989;G|0.011	0.011	strong		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			G	33283945	C	G	33283945	3	3	22	1	0	0	0	0	1	0	0	0	17527	855	30	4	1159	4	ZBTB22	6	33283945	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48190	33283945	137831122	3670	8778										
SYNGAP1	8831	hgsc.bcm.edu	37	chr6	33393583	33393583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctcccctagatacacccCctactgatccgggaccggag	8	18	0	2	rs73402305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33393583C>T	ENST00000418600.2	+	3	299	c.198C>T	c.(196-198)ccC>ccT	p.P66P	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.P66P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	66					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGATACACCCCCTACTGATCC	0.697													c|||	259	0.0517173	0.1921	0.0058	5008	,	,		9030	0.0		0.001	False		,,,				2504	0.0				p.P66P		Atlas-SNP	.											SYNGAP1_ENST00000293748,NS,carcinoma,+2,2	SYNGAP1	202	2	0			c.C198T						PASS	.	C		653,3753	259.8+/-263.3	41,571,1591	47	40	43		198	0.8	1	6	dbSNP_131	43	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous	SYNGAP1	NM_006772.2		41,579,5883	TT,TC,CC		0.093,14.8207,5.0823		66/1344	33393583	661,12345	2203	4300	6503	SO:0001819	synonymous_variant	8831	exon3			ACACCCCCTACTG	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.198C>T	6.37:g.33393583C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	168	77	0.458333	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																			C|0.937;T|0.063	0.063	strong		0.697	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33393583	C	T	33393583	2	4	22	1	0	0	0	0	0	0	0	1	15444	610	22	2		2	SYNGAP1	6	33393583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109638	33393583	137721484	3671	8779										
SYNGAP1	8831	hgsc.bcm.edu	37	chr6	33408542	33408542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaggaggtgtttgcttcGtggcggctgcgctgcgcaga	17	9	0	2	rs587780472|rs411136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33408542G>A	ENST00000418600.2	+	11	1814	c.1713G>A	c.(1711-1713)tcG>tcA	p.S571S	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.S571S|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Silent_p.S512S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	571	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S556S(1)|p.S571S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTTTGCTTCGTGGCGGCTGC	0.632													G|||	2192	0.4377	0.2716	0.4035	5008	,	,		17633	0.6319		0.3837	False		,,,				2504	0.5419				p.S571S		Atlas-SNP	.											SYNGAP1_ENST00000293748,NS,carcinoma,0,2	SYNGAP1	202	2	2	Substitution - coding silent(2)	stomach(2)	c.G1713A						PASS	.	G		1228,3176		187,854,1161	23	23	23		1713	-10.5	0.2	6	dbSNP_80	23	3424,5172		694,2036,1568	no	coding-synonymous	SYNGAP1	NM_006772.2		881,2890,2729	AA,AG,GG		39.8325,27.8837,35.7846		571/1344	33408542	4652,8348	2202	4298	6500	SO:0001819	synonymous_variant	8831	exon11			TGCTTCGTGGCGG	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1713G>A	6.37:g.33408542G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	79	32	0.405063	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																			G|0.608;A|0.392	0.392	strong		0.632	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33408542	G	A	33408542	2	1	22	1	0	0	0	0	0	0	0	1	15444	1132	40	1		1	SYNGAP1	6	33408542	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14959	33408542	137706525	3672	8780										
ZBTB9	221504	hgsc.bcm.edu	37	chr6	33423698	33423698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaccacttgagcttcctgCccctcctgcactgcccccca	6	21	0	1	rs9469425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33423698C>G	ENST00000395064.2	+	2	1089	c.821C>G	c.(820-822)gCc>gGc	p.A274G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	274	Pro-rich.		A -> G (in dbSNP:rs9469425).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGCTTCCTGCCCCTCCTGCA	0.567													C|||	344	0.0686901	0.2534	0.013	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.0				p.A274G		Atlas-SNP	.											.	ZBTB9	23	.	0			c.C821G						PASS	.	C	GLY/ALA	876,3530	338.6+/-305.4	75,726,1402	58	61	60		821	4.4	0.1	6	dbSNP_119	60	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ZBTB9	NM_152735.3	60	75,734,5694	GG,GC,CC		0.093,19.882,6.7969	possibly-damaging	274/474	33423698	884,12122	2203	4300	6503	SO:0001583	missense	221504	exon2			TTCCTGCCCCTCC	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.821C>G	6.37:g.33423698C>G	ENSP00000378503:p.Ala274Gly	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	58	35	0.603448	NM_152735	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	CCDS4780.1	139	0.06364468864468864	136	0.2764227642276423	3	0.008287292817679558	0	0.0	0	0.0	C	6.353	0.433225	0.12045	0.19882	9.3E-4	ENSG00000213588	ENST00000395064	T	0.07114	3.22	5.28	4.39	0.52855	.	3.470690	0.02755	U	0.117890	T	0.03095	0.0091	L	0.29908	0.895	0.54753	P	1.6000000000016E-5	B	0.24186	0.099	B	0.22601	0.04	T	0.30937	-0.9961	9	0.33940	T	0.23	.	11.5797	0.50883	0.0:0.8205:0.1795:0.0	rs9469425	274	Q96C00	ZBTB9_HUMAN	G	274	ENSP00000378503:A274G	ENSP00000378503:A274G	A	+	2	0	ZBTB9	33531676	0.051000	0.20477	0.114000	0.21550	0.988000	0.76386	1.337000	0.33862	1.419000	0.47118	0.655000	0.94253	GCC	C|0.921;G|0.079	0.079	strong		0.567	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		G	33423698	C	G	33423698	3	3	22	1	0	0	0	0	1	0	0	0	17555	739	26	4	823	4	ZBTB9	6	33423698	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15156	33423698	137691369	3673	8781										
ITPR3	3710	hgsc.bcm.edu	37	chr6	33648144	33648144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcgtgaaccactgctaCgtggacacggaggtggagat	13	9	0	2	rs11967839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33648144C>T	ENST00000374316.5	+	33	5323	c.4263C>T	c.(4261-4263)taC>taT	p.Y1421Y	ITPR3_ENST00000605930.1_Silent_p.Y1421Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1421					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACCACTGCTACGTGGACACGG	0.607													C|||	572	0.114217	0.2958	0.0375	5008	,	,		16528	0.0585		0.0447	False		,,,				2504	0.0521				p.Y1421Y		Atlas-SNP	.											.	ITPR3	409	.	0			c.C4263T						PASS	.	C		1037,3369	382.3+/-324.4	121,795,1287	63	57	59		4263	-4	0.9	6	dbSNP_120	59	392,8208	126.5+/-185.0	11,370,3919	no	coding-synonymous	ITPR3	NM_002224.3		132,1165,5206	TT,TC,CC		4.5581,23.5361,10.9872		1421/2672	33648144	1429,11577	2203	4300	6503	SO:0001819	synonymous_variant	3710	exon32			CTGCTACGTGGAC	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4263C>T	6.37:g.33648144C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	50	30	0.6	NM_002224	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																			C|0.890;T|0.110	0.110	strong		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33648144	C	T	33648144	2	4	22	1	0	0	0	0	0	0	0	1	7922	547	19	1		1	ITPR3	6	33648144	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	224446	33648144	137466923	3674	8782										
IP6K3	117283	hgsc.bcm.edu	37	chr6	33694659	33694659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtgttgaggtggggctcGgacctcagaagagccttggc	18	8	1	3	rs34252064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:33694659G>A	ENST00000293756.4	-	4	764	c.438C>T	c.(436-438)tcC>tcT	p.S146S	IP6K3_ENST00000451316.1_Silent_p.S146S	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	146					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGTGGGGCTCGGACCTCAGAA	0.647													G|||	453	0.0904553	0.2912	0.0317	5008	,	,		17666	0.001		0.0398	False		,,,				2504	0.0051				p.S146S		Atlas-SNP	.											.	IP6K3	52	.	0			c.C438T						PASS	.	G	,	1010,3396	376.1+/-321.9	114,782,1307	73	73	73		438,438	1.1	1	6	dbSNP_126	73	384,8216	125.0+/-183.6	12,360,3928	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	126,1142,5235	AA,AG,GG		4.4651,22.9233,10.7181	,	146/411,146/411	33694659	1394,11612	2203	4300	6503	SO:0001819	synonymous_variant	117283	exon5			GGGCTCGGACCTC	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.438C>T	6.37:g.33694659G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	124	68	0.548387	NM_001142883	Q96MQ9	Silent	SNP	ENST00000293756.4	37	CCDS34435.1																																																																																			G|0.901;A|0.099	0.099	strong		0.647	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		A	33694659	G	A	33694659	2	1	22	1	0	0	0	0	0	0	0	1	7790	1103	39	1		1	IP6K3	6	33694659	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46515	33694659	137420408	3675	8783										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34803947	34803947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtagatcactccaccagcCcccagtgcccagcagtcctg	8	17	1	1	rs4259246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:34803947C>T	ENST00000192788.5	+	8	1026	c.855C>T	c.(853-855)gcC>gcT	p.A285A	UHRF1BP1_ENST00000452449.2_Silent_p.A285A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	285							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCCACCAGCCCCCAGTGCCC	0.537													T|||	2311	0.461462	0.7723	0.3069	5008	,	,		19389	0.4633		0.335	False		,,,				2504	0.2791				p.A285A		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.C855T						PASS	.	T		2664,1394		881,902,246	133	151	145		855	2.2	1	6	dbSNP_111	145	2867,5545		491,1885,1830	no	coding-synonymous	UHRF1BP1	NM_017754.3		1372,2787,2076	TT,TC,CC		34.0823,34.3519,44.3545		285/1441	34803947	5531,6939	2029	4206	6235	SO:0001819	synonymous_variant	54887	exon8			ACCAGCCCCCAGT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.855C>T	6.37:g.34803947C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	82	35	0.426829	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																			C|0.564;T|0.436	0.436	strong		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34803947	C	T	34803947	2	4	22	1	0	0	0	0	0	0	0	1	16965	610	22	2		2	UHRF1BP1	6	34803947	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1109288	34803947	136311120	3676	8784										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34824636	34824636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagacagcctgcctttcAgcctccagcatggaaccgct	11	15	1	1	rs11755393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:34824636A>G	ENST00000192788.5	+	11	1532	c.1361A>G	c.(1360-1362)cAg>cGg	p.Q454R	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q454R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	454			Q -> R (in dbSNP:rs11755393).				histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCTGCCTTTCAGCCTCCAGCA	0.502													G|||	2342	0.467652	0.7723	0.3127	5008	,	,		19636	0.4583		0.3539	False		,,,				2504	0.2924				p.Q454R		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.A1361G						PASS	.	G	ARG/GLN	2549,1303		854,841,231	80	79	79		1361	5	0.8	6	dbSNP_120	79	2892,5374		512,1868,1753	yes	missense	UHRF1BP1	NM_017754.3	43	1366,2709,1984	GG,GA,AA		34.9867,33.8266,44.9001	benign	454/1441	34824636	5441,6677	1926	4133	6059	SO:0001583	missense	54887	exon11			CCTTTCAGCCTCC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1361A>G	6.37:g.34824636A>G	ENSP00000192788:p.Gln454Arg	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	74	35	0.472973	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	1020	0.46703296703296704	375	0.7621951219512195	117	0.32320441988950277	265	0.4632867132867133	263	0.3469656992084433	G	8.516	0.867634	0.17250	0.661734	0.349867	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08008	3.14;3.14	5.93	5.01	0.66863	.	0.890084	0.09897	N	0.741495	T	0.00936	0.0031	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	9	0.12430	T	0.62	-1.0536	7.3674	0.26781	0.1453:0.1388:0.7159:0.0	rs11755393;rs52828489;rs11755393	454	Q6BDS2	URFB1_HUMAN	R	454	ENSP00000192788:Q454R;ENSP00000400628:Q454R	ENSP00000192788:Q454R	Q	+	2	0	UHRF1BP1	34932614	0.997000	0.39634	0.794000	0.32065	0.600000	0.36913	2.535000	0.45685	1.546000	0.49388	-0.119000	0.15052	CAG	A|0.531;G|0.469	0.469	strong		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		G	34824636	A	G	34824636	3	3	22	1	0	0	0	0	1	0	0	0	16965	188	7	3	1403	3	UHRF1BP1	6	34824636	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20689	34824636	136290431	3677	8785										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34825662	34825662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtcagaaagatgaacacTtggacatccgactagatgca	9	9	1	4	rs16894959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:34825662T>C	ENST00000192788.5	+	13	1906	c.1735T>C	c.(1735-1737)Ttg>Ctg	p.L579L	UHRF1BP1_ENST00000452449.2_Silent_p.L579L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	579							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGATGAACACTTGGACATCCG	0.443													T|||	693	0.138379	0.3071	0.0994	5008	,	,		20564	0.0119		0.1262	False		,,,				2504	0.0808				p.L579L		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.T1735C						PASS	.	T		878,2966		98,682,1142	117	109	112		1735	-10.2	0.3	6	dbSNP_123	112	1244,7018		101,1042,2988	no	coding-synonymous	UHRF1BP1	NM_017754.3		199,1724,4130	CC,CT,TT		15.0569,22.8408,17.5285		579/1441	34825662	2122,9984	1922	4131	6053	SO:0001819	synonymous_variant	54887	exon13			GAACACTTGGACA	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1735T>C	6.37:g.34825662T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	63	0.533898	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																			T|0.852;C|0.148	0.148	strong		0.443	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		C	34825662	T	C	34825662	2	2	22	1	0	0	0	0	0	0	0	1	16965	1606	56	3		3	UHRF1BP1	6	34825662	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1026	34825662	136289405	3678	8786										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34827085	34827085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaactgagcagaacccaAgcctccagctcaccagctgc	8	15	1	3	rs9469913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:34827085A>T	ENST00000192788.5	+	14	3123	c.2952A>T	c.(2950-2952)caA>caT	p.Q984H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q984H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	984			Q -> H (in dbSNP:rs9469913).				histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAGAACCCAAGCCTCCAGCT	0.572													A|||	952	0.190096	0.4569	0.1196	5008	,	,		22281	0.0228		0.1402	False		,,,				2504	0.1033				p.Q984H		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.A2952T						PASS	.	A	HIS/GLN	1464,2618		250,964,827	46	50	48		2952	-5.2	0	6	dbSNP_119	48	1444,6894		132,1180,2857	yes	missense	UHRF1BP1	NM_017754.3	24	382,2144,3684	TT,TA,AA		17.3183,35.8648,23.4138	possibly-damaging	984/1441	34827085	2908,9512	2041	4169	6210	SO:0001583	missense	54887	exon14			AACCCAAGCCTCC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2952A>T	6.37:g.34827085A>T	ENSP00000192788:p.Gln984His	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	399	0.18269230769230768	234	0.47560975609756095	47	0.1298342541436464	13	0.022727272727272728	105	0.13852242744063326	A	13.88	2.368353	0.42003	0.358648	0.173183	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.01;3.01	5.52	-5.18	0.02840	.	0.566831	0.19078	N	0.123328	T	0.02193	0.0068	N	0.19112	0.55	0.80722	P	0.0	B	0.18863	0.031	B	0.13407	0.009	T	0.35895	-0.9770	9	0.34782	T	0.22	-11.9099	15.6301	0.76899	0.316:0.0:0.684:0.0	rs9469913;rs52800736;rs9469913	984	Q6BDS2	URFB1_HUMAN	H	984	ENSP00000192788:Q984H;ENSP00000400628:Q984H	ENSP00000192788:Q984H	Q	+	3	2	UHRF1BP1	34935063	0.000000	0.05858	0.007000	0.13788	0.776000	0.43924	0.028000	0.13644	-0.862000	0.04089	0.482000	0.46254	CAA	A|0.822;T|0.178	0.178	strong		0.572	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34827085	A	T	34827085	3	4	22	1	0	0	0	0	1	0	0	0	16965	69	3	5	3006	5	UHRF1BP1	6	34827085	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1423	34827085	136287982	3679	8787										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34831866	34831866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttctccatgaagaggacGgtatctcaacagtcatttga	8	8	3	3	rs3734264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:34831866G>A	ENST00000192788.5	+	15	3474	c.3303G>A	c.(3301-3303)acG>acA	p.T1101T	UHRF1BP1_ENST00000452449.2_Silent_p.T1101T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1101							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGAAGAGGACGGTATCTCAAC	0.507													A|||	2321	0.463458	0.7723	0.3112	5008	,	,		19112	0.4573		0.338	False		,,,				2504	0.2894				p.T1101T		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.G3303A						PASS	.	A		2641,1405		881,879,263	133	140	138		3303	-9.9	0	6	dbSNP_107	138	2865,5493		495,1875,1809	no	coding-synonymous	UHRF1BP1	NM_017754.3		1376,2754,2072	AA,AG,GG		34.2785,34.7257,44.3889		1101/1441	34831866	5506,6898	2023	4179	6202	SO:0001819	synonymous_variant	54887	exon15			GAGGACGGTATCT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3303G>A	6.37:g.34831866G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	128	49	0.382812	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																			G|0.537;A|0.463	0.463	strong		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34831866	G	A	34831866	2	1	22	1	0	0	0	0	0	0	0	1	16965	1103	39	1		1	UHRF1BP1	6	34831866	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4781	34831866	136283201	3680	8788										
ZNF76	7629	hgsc.bcm.edu	37	chr6	35263009	35263009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctggagacaacagtgtCggagagtggctgctgagtcc	15	10	0	3	rs73745177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35263009C>T	ENST00000373953.3	+	14	1963	c.1697C>T	c.(1696-1698)tCg>tTg	p.S566L	DEF6_ENST00000316637.5_5'Flank|ZNF76_ENST00000440666.2_Missense_Mutation_p.S540L|DEF6_ENST00000542066.1_5'Flank|ZNF76_ENST00000339411.5_Missense_Mutation_p.S511L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	566					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ACAACAGTGTCGGAGAGTGGC	0.627													C|||	27	0.00539137	0.0151	0.0086	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.001				p.S566L	Esophageal Squamous(52;92 1039 20612 23956 34676)	Atlas-SNP	.											.	ZNF76	37	.	0			c.C1697T						PASS	.	C	LEU/SER	71,4333	62.9+/-100.1	0,71,2131	58	45	49		1697	5.9	0.3	6	dbSNP_130	49	4,8596	2.2+/-6.3	0,4,4296	yes	missense	ZNF76	NM_003427.3	145	0,75,6427	TT,TC,CC		0.0465,1.6122,0.5767	benign	566/571	35263009	75,12929	2202	4300	6502	SO:0001583	missense	7629	exon14			CAGTGTCGGAGAG	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1697C>T	6.37:g.35263009C>T	ENSP00000363064:p.Ser566Leu	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	40	18	0.45	NM_003427	Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	CCDS4801.1	9	0.004120879120879121	6	0.012195121951219513	3	0.008287292817679558	0	0.0	0	0.0	C	16.72	3.202287	0.58234	0.016122	4.65E-4	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.10005	2.95;2.95;2.92	5.91	5.91	0.95273	.	0.306088	0.18150	N	0.150126	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B;B	0.23806	0.046;0.091	B;B	0.12837	0.008;0.007	T	0.24225	-1.0166	10	0.72032	D	0.01	.	17.0178	0.86424	0.0:1.0:0.0:0.0	.	511;566	P36508-2;P36508	.;ZNF76_HUMAN	L	566;540;511	ENSP00000363064:S566L;ENSP00000392243:S540L;ENSP00000344097:S511L	ENSP00000344097:S511L	S	+	2	0	ZNF76	35370987	0.090000	0.21635	0.330000	0.25442	0.994000	0.84299	2.471000	0.45127	2.793000	0.96121	0.655000	0.94253	TCG	C|0.994;T|0.006	0.006	strong		0.627	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		T	35263009	C	T	35263009	3	4	22	1	0	0	0	0	1	0	0	0	18132	893	31	1	1747	1	ZNF76	6	35263009	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	431143	35263009	135852058	3681	8789										
FANCE	2178	hgsc.bcm.edu	37	chr6	35424008	35424010	+	In_Frame_Del	DEL	GGA	GGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactggaatccctggcagatGgaggaagtgcatctcctatt					rs45451605|rs397897540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35424008_35424010delGGA	ENST00000229769.2	+	2	918_920	c.733_735delGGA	c.(733-735)ggadel	p.G246del		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	246	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CCTGGCAGATGGAGGAAGTGCAT	0.507			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					17	0.00339457	0.0113	0.0014	5008	,	,		22003	0.0		0.0	False		,,,				2504	0.001				p.244_245del		Pindel,Atlas-Indel	.	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"Fanconi anemia, complementation group E"		L	.	FANCE	45	.	0			c.732_734del						PASS	.			70,4194		2,66,2064						-4.1	0		dbSNP_127	120	5,8249		0,5,4122	no	coding	FANCE	NM_021922.2		2,71,6186	A1A1,A1R,RR		0.0606,1.6417,0.5991				75,12443				SO:0001651	inframe_deletion	2178	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	.	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.733_735delGGA	6.37:g.35424011_35424013delGGA	ENSP00000229769:p.Gly246del	Somatic	138	.	.		WXS	Illumina HiSeq	Phase_I	142	42	0.296	NM_021922	A8K907|Q4ZGH2	In_Frame_Del	DEL	ENST00000229769.2	37	CCDS4805.1																																																																																			GGA|0.979;-|0.021	0.021	strong		0.507	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			-	35424010	GGA	-	35424008	7	5	22	1	0	1	0	1	0	0	0	0	5666	1349	47	0	739	0	FANCE	6	35424008	In_Frame_Del	DEL	GGA	TCGA-G8-6324-01A-11D-2210-10	160999	35424008	135691059	3682	8790										
TEAD3	7005	hgsc.bcm.edu	37	chr6	35452346	35452346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctctctacctgttttctCgtccgagtcttccccgtcct	6	17	4	0	rs11756089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35452346C>T	ENST00000338863.7	-	3	485	c.258G>A	c.(256-258)acG>acA	p.T86T	TEAD3_ENST00000402886.3_Intron	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	86					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTGTTTTCTCGTCCGAGTCT	0.557													C|||	642	0.128195	0.3048	0.1369	5008	,	,		16018	0.0565		0.0537	False		,,,				2504	0.0337				p.T86T		Atlas-SNP	.											.	TEAD3	52	.	0			c.G258A						PASS	.	C		1079,3087		133,813,1137	111	122	118		258	-2.5	1	6	dbSNP_120	118	578,7808		32,514,3647	no	coding-synonymous	TEAD3	NM_003214.3		165,1327,4784	TT,TC,CC		6.8924,25.9001,13.2011		86/436	35452346	1657,10895	2083	4193	6276	SO:0001819	synonymous_variant	7005	exon3			TTTTCTCGTCCGA	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000338863.7:c.258G>A	6.37:g.35452346C>T		Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	220	112	0.509091	NM_003214	O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000338863.7	37	CCDS47414.1																																																																																			C|0.863;T|0.137	0.137	strong		0.557	TEAD3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040298.2			T	35452346	C	T	35452346	2	4	22	1	0	0	0	0	0	0	0	1	15737	871	31	1		1	TEAD3	6	35452346	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28338	35452346	135662721	3683	8791										
C6orf81	221481	hgsc.bcm.edu	37	chr6	35705059	35705059	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatcgcccgtgagtgtccGggccctggggagagggctct	17	12	1	2	rs56183341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35705059G>A	ENST00000373866.3	+	1	185				ARMC12_ENST00000373869.3_Intron|ARMC12_ENST00000288065.2_Silent_p.P58P|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											GTGAGTGTCCGGGCCCTGGGG	0.612											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	43	0.00858626	0.0295	0.0014	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.0031				p.P58P		Atlas-SNP	.											.	.	.	.	0			c.G174A						PASS	.	G		106,4300	81.9+/-120.4	1,104,2098	68	64	65		174	-0.4	0	6	dbSNP_129	65	0,8600		0,0,4300	no	coding-synonymous	C6orf81	NM_145028.3		1,104,6398	AA,AG,GG		0.0,2.4058,0.815		58/368	35705059	106,12900	2203	4300	6503	SO:0001627	intron_variant	221481	exon1			GTGTCCGGGCCCT	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.163+11G>A	6.37:g.35705059G>A		Somatic	116	0	0	857	WXS	Illumina HiSeq	Phase_I	116	56	0.482759	NM_145028	Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37																																																																																				G|0.992;A|0.008	0.008	strong		0.612	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		A	35705059	G	A	35705059	1	1	22	0	1	0	0	0	0	0	0	0	2372	1103	39	1		1	C6orf81	6	35705059	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	252713	35705059	135410008	3684	8792										
C6orf81	221481	hgsc.bcm.edu	37	chr6	35716613	35716613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccggccctcctcctgccAgcccagtcgttcctacttta	7	19	0	0	rs73729781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35716613A>G	ENST00000373866.3	+	6	1011	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ARMC12_ENST00000373869.3_Missense_Mutation_p.Q320R|ARMC12_ENST00000288065.2_Missense_Mutation_p.Q357R			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	330						nucleus (GO:0005634)											TCCTCCTGCCAGCCCAGTCGT	0.488													A|||	26	0.00519169	0.0189	0.0014	5008	,	,		17917	0.0		0.0	False		,,,				2504	0.0				p.Q357R		Atlas-SNP	.											.	.	.	.	0			c.A1070G						PASS	.	A	ARG/GLN	63,4343	57.4+/-93.9	0,63,2140	44	47	46		1070	-9.5	0	6	dbSNP_130	46	0,8600		0,0,4300	yes	missense	C6orf81	NM_145028.3	43	0,63,6440	GG,GA,AA		0.0,1.4299,0.4844	benign	357/368	35716613	63,12943	2203	4300	6503	SO:0001583	missense	221481	exon6			CCTGCCAGCCCAG	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.989A>G	6.37:g.35716613A>G	ENSP00000362973:p.Gln330Arg	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	75	43	0.573333	NM_145028	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	A	1.845	-0.466582	0.04476	0.014299	0.0	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T	0.39997	1.05;1.07	4.77	-9.54	0.00572	.	1.744990	0.03118	N	0.163415	T	0.02267	0.0070	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07102	-1.0790	10	0.02654	T	1	.	1.28	0.02039	0.1771:0.3484:0.2459:0.2287	.	320;357	Q5T9G4-3;Q5T9G4-2	.;.	R	320;357;330	ENSP00000288065:Q357R;ENSP00000362973:Q330R	ENSP00000288065:Q357R	Q	+	2	0	C6orf81	35824591	0.000000	0.05858	0.001000	0.08648	0.269000	0.26545	-0.566000	0.05922	-1.836000	0.01190	-0.400000	0.06385	CAG	A|0.995;G|0.005	0.005	strong		0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		G	35716613	A	G	35716613	3	3	22	1	0	0	0	0	1	0	0	0	2372	188	7	3	1092	3	C6orf81	6	35716613	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11554	35716613	135398454	3685	8793										
SLC26A8	116369	hgsc.bcm.edu	37	chr6	35923246	35923246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcagtgaatcaggttaaTggaggatgcttcgggatcca	14	6	1	2	rs2295852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35923246T>C	ENST00000490799.1	-	17	2268	c.1915A>G	c.(1915-1917)Att>Gtt	p.I639V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.I639V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I534V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATCAGGTTAATGGAGGATGCT	0.463													N|||	2041	0.407548	0.6967	0.2867	5008	,	,		21471	0.2758		0.3529	False		,,,				2504	0.2945				p.I639V		Atlas-SNP	.											SLC26A8,rectum,carcinoma,0,1	SLC26A8	95	1	0			c.A1915G						PASS	.	C	VAL/ILE,VAL/ILE,VAL/ILE	2807,1599	496.2+/-363.5	886,1035,282	198	191	193		1915,1915,1600	-5	0	6	dbSNP_100	193	3003,5597	664.5+/-402.2	551,1901,1848	yes	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	29,29,29	1437,2936,2130	CC,CT,TT		34.9186,36.2914,44.6717	benign,benign,benign	639/971,639/971,534/866	35923246	5810,7196	2203	4300	6503	SO:0001583	missense	116369	exon17			GGTTAATGGAGGA	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1915A>G	6.37:g.35923246T>C	ENSP00000417638:p.Ile639Val	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	174	83	0.477012	NM_052961		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	835	0.3823260073260073	322	0.6544715447154471	106	0.292817679558011	152	0.26573426573426573	255	0.33641160949868076	C	3.950	-0.012529	0.07727	0.637086	0.349186	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94862	-3.16;-3.54;-3.16	5.01	-4.99	0.03010	Sulphate transporter/antisigma-factor antagonist STAS (3);	1.172630	0.06260	N	0.693768	T	0.72581	0.3478	L	0.31752	0.955	0.80722	P	0.0	B;B;B	0.15141	0.0;0.012;0.0	B;B;B	0.14023	0.001;0.01;0.001	T	0.67166	-0.5739	9	0.11485	T	0.65	.	2.4043	0.04409	0.1092:0.3104:0.1431:0.4373	rs2295852;rs17706470;rs52831325;rs58070509;rs2295852	639;534;221	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	639;534;639	ENSP00000417638:I639V;ENSP00000378100:I534V;ENSP00000347778:I639V	ENSP00000347778:I639V	I	-	1	0	SLC26A8	36031224	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.320000	0.02700	-1.280000	0.02402	-2.418000	0.00219	ATT	T|0.572;C|0.428	0.428	strong		0.463	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			C	35923246	T	C	35923246	3	2	22	1	0	0	0	0	1	0	0	0	14523	1464	51	2	1013	2	SLC26A8	6	35923246	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	206633	35923246	135191821	3686	8794										
SLC26A8	116369	hgsc.bcm.edu	37	chr6	35987425	35987425	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcttaacatcatatgcgaaTgagtttcgcctggacttaga	9	9	1	2	rs61743377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:35987425T>C	ENST00000490799.1	-	2	413	c.60A>G	c.(58-60)tcA>tcG	p.S20S	SLC26A8_ENST00000355574.2_Silent_p.S20S|SLC26A8_ENST00000394602.2_Silent_p.S20S	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATATGCGAATGAGTTTCGCC	0.448													T|||	74	0.0147764	0.0552	0.0014	5008	,	,		18599	0.0		0.0	False		,,,				2504	0.0				p.S20S		Atlas-SNP	.											.	SLC26A8	95	.	0			c.A60G						PASS	.	T	,,	234,4172	136.9+/-172.8	5,224,1974	182	140	154		60,60,60	-2.6	0	6	dbSNP_129	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	,,	5,225,6273	CC,CT,TT		0.0116,5.3109,1.8069	,,	20/971,20/971,20/866	35987425	235,12771	2203	4300	6503	SO:0001819	synonymous_variant	116369	exon2			TGCGAATGAGTTT	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.60A>G	6.37:g.35987425T>C		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	205	89	0.434146	NM_052961		Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																			T|0.986;C|0.014	0.014	strong		0.448	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			C	35987425	T	C	35987425	2	2	22	1	0	0	0	0	0	0	0	1	14523	1451	51	2		2	SLC26A8	6	35987425	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	64179	35987425	135127642	3687	8795										
MAPK13	5603	hgsc.bcm.edu	37	chr6	36104468	36104468	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcgcgacatgcagacgcCgagatgactggctacgtggt	15	11	0	3	rs115013068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36104468C>G	ENST00000211287.4	+	7	793	c.531C>G	c.(529-531)gcC>gcG	p.A177A	MAPK13_ENST00000373766.5_Silent_p.A177A|MAPK13_ENST00000373761.6_Silent_p.A167A|MAPK13_ENST00000373759.1_Silent_p.A99A	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ATGCAGACGCCGAGATGACTG	0.577													C|||	54	0.0107827	0.034	0.013	5008	,	,		20219	0.0		0.0	False		,,,				2504	0.0				p.A177A		Atlas-SNP	.											.	MAPK13	65	.	0			c.C531G						PASS	.	C		134,4272	94.4+/-133.1	3,128,2072	29	29	29		531	-10.2	0	6	dbSNP_132	29	0,8600		0,0,4300	no	coding-synonymous	MAPK13	NM_002754.3		3,128,6372	GG,GC,CC		0.0,3.0413,1.0303		177/366	36104468	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	5603	exon7			AGACGCCGAGATG	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.531C>G	6.37:g.36104468C>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	187	98	0.524064	NM_002754	O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Silent	SNP	ENST00000211287.4	37	CCDS4818.1																																																																																			C|0.990;G|0.010	0.010	strong		0.577	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			G	36104468	C	G	36104468	2	3	22	1	0	0	0	0	0	0	0	1	9275	639	23	4		4	MAPK13	6	36104468	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117043	36104468	135010599	3688	8796										
BRPF3	27154	hgsc.bcm.edu	37	chr6	36177597	36177597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgccatggagctggagCtgatgccattcaatgttctg	13	9	2	1	rs73730485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36177597C>T	ENST00000357641.6	+	5	2024	c.1771C>T	c.(1771-1773)Ctg>Ttg	p.L591L	BRPF3_ENST00000339717.7_Silent_p.L591L|BRPF3_ENST00000443324.2_Silent_p.L591L|BRPF3_ENST00000543502.1_Silent_p.L591L|BRPF3_ENST00000534400.1_Silent_p.L591L|BRPF3_ENST00000534694.1_Silent_p.L591L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	591					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAGCTGGAGCTGATGCCATT	0.507													C|||	53	0.0105831	0.0393	0.0014	5008	,	,		20080	0.0		0.0	False		,,,				2504	0.0				p.L591L		Atlas-SNP	.											.	BRPF3	93	.	0			c.C1771T						PASS	.	C		186,4220	118.8+/-156.5	4,178,2021	96	84	88		1771	3.2	1	6	dbSNP_130	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRPF3	NM_015695.2		4,179,6320	TT,TC,CC		0.0116,4.2215,1.4378		591/1206	36177597	187,12819	2203	4300	6503	SO:0001819	synonymous_variant	27154	exon5			CTGGAGCTGATGC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1771C>T	6.37:g.36177597C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	114	53	0.464912	NM_015695	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																			C|0.987;T|0.013	0.013	strong		0.507	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		T	36177597	C	T	36177597	2	4	22	1	0	0	0	0	0	0	0	1	1521	796	28	2		2	BRPF3	6	36177597	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73129	36177597	134937470	3689	8797										
PNPLA1	285848	hgsc.bcm.edu	37	chr6	36269946	36269946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagccactggcctcttcaActccactttctctaagtggc	6	16	3	0	rs145856102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36269946A>G	ENST00000394571.2	+	6	1084	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	PNPLA1_ENST00000388715.3_Missense_Mutation_p.T267A|PNPLA1_ENST00000312917.5_Missense_Mutation_p.T276A	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	362	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGCCTCTTCAACTCCACTTTC	0.562											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T362A		Atlas-SNP	.											.	PNPLA1	92	.	0			c.A1084G						PASS	.	A	ALA/THR,ALA/THR,ALA/THR	18,4388	25.3+/-52.1	0,18,2185	130	125	127		826,1084,799	0.2	0	6	dbSNP_134	127	0,8600		0,0,4300	yes	missense,missense,missense	PNPLA1	NM_001145716.1,NM_001145717.1,NM_173676.2	58,58,58	0,18,6485	GG,GA,AA		0.0,0.4085,0.1384	benign,benign,benign	276/447,362/533,267/438	36269946	18,12988	2203	4300	6503	SO:0001583	missense	285848	exon6			TCTTCAACTCCAC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1084A>G	6.37:g.36269946A>G	ENSP00000378072:p.Thr362Ala	Somatic	132	0	0	861	WXS	Illumina HiSeq	Phase_I	133	63	0.473684	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	A	0.635	-0.815820	0.02776	0.004085	0.0	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.27256	1.91;1.91;1.68;1.68	5.4	0.208	0.15221	.	2.180320	0.02285	N	0.069728	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25641	-1.0126	10	0.18710	T	0.47	0.729	2.0907	0.03656	0.1506:0.4124:0.2712:0.1658	.	362;276	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	A	267;276;363;362	ENSP00000373367:T267A;ENSP00000321116:T276A;ENSP00000391868:T363A;ENSP00000378072:T362A	ENSP00000321116:T276A	T	+	1	0	PNPLA1	36377924	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.120000	0.15647	0.002000	0.14630	-1.513000	0.00942	ACT	A|0.998;G|0.002	0.002	strong		0.562	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		G	36269946	A	G	36269946	3	3	22	1	0	0	0	0	1	0	0	0	12164	43	2	2	1133	2	PNPLA1	6	36269946	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	92349	36269946	134845121	3690	8798										
ETV7	51513	hgsc.bcm.edu	37	chr6	36339176	36339176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccctgggtcctgcagcCgagctctgcacagtgacata	11	15	1	1	rs34306145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36339176C>T	ENST00000340181.4	-	5	836	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	ETV7_ENST00000538992.1_Missense_Mutation_p.G48S|ETV7_ENST00000373737.4_Intron|ETV7_ENST00000373738.1_Missense_Mutation_p.G144S|ETV7_ENST00000339796.5_Missense_Mutation_p.G199S	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	199			G -> S (in dbSNP:rs34306145).		cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCTGCAGCCGAGCTCTGCA	0.637													C|||	60	0.0119808	0.0446	0.0	5008	,	,		18231	0.0		0.0	False		,,,				2504	0.001				p.G199S		Atlas-SNP	.											.	ETV7	31	.	0			c.G595A						PASS	.	C	SER/GLY,SER/GLY,SER/GLY,,SER/GLY,SER/GLY,SER/GLY,SER/GLY	155,4251	98.5+/-137.1	4,147,2052	48	42	44		595,430,418,,430,352,142,595	-4.3	0	6	dbSNP_126	44	0,8600		0,0,4300	yes	missense,missense,missense,intron,missense,missense,missense,missense	ETV7	NM_001207035.1,NM_001207036.1,NM_001207037.1,NM_001207038.1,NM_001207039.1,NM_001207040.1,NM_001207041.1,NM_016135.3	56,56,56,,56,56,56,56	4,147,6352	TT,TC,CC		0.0,3.5179,1.1918	benign,benign,benign,,benign,benign,benign,benign	199/318,144/287,140/283,,144/263,118/261,48/191,199/342	36339176	155,12851	2203	4300	6503	SO:0001583	missense	51513	exon5			TGCAGCCGAGCTC	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.595G>A	6.37:g.36339176C>T	ENSP00000341843:p.Gly199Ser	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	49	20	0.408163	NM_001207035	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	CCDS4819.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	C	6.332	0.429441	0.11987	0.035179	0.0	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373738;ENST00000538992	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	3.49	-4.27	0.03744	.	1.429630	0.04667	N	0.409962	T	0.03739	0.0106	N	0.17082	0.46	0.09310	N	1	B;D;B;P;B	0.69078	0.101;0.997;0.012;0.708;0.229	B;P;B;B;B	0.52481	0.056;0.7;0.017;0.087;0.014	T	0.25152	-1.0140	10	0.09084	T	0.74	.	11.3935	0.49827	0.0:0.3082:0.0:0.6918	rs34306145	140;144;199;144;199	Q9Y603-2;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;ETV7_HUMAN;.;.	S	199;199;144;48	ENSP00000342260:G199S;ENSP00000341843:G199S;ENSP00000362843:G144S;ENSP00000440592:G48S	ENSP00000342260:G199S	G	-	1	0	ETV7	36447154	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.280000	0.08468	-1.429000	0.01987	-2.010000	0.00438	GGC	C|0.987;T|0.013	0.013	strong		0.637	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		T	36339176	C	T	36339176	3	4	22	1	0	0	0	0	1	0	0	0	5284	652	23	1	446	1	ETV7	6	36339176	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69230	36339176	134775891	3691	8799										
ETV7	51513	hgsc.bcm.edu	37	chr6	36341251	36341251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccggggggactggagagtGctgggtgggcgtcttcagcc	19	9	2	1	rs9470262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36341251G>A	ENST00000340181.4	-	4	653	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	ETV7_ENST00000373737.4_Missense_Mutation_p.H138Y|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373738.1_Missense_Mutation_p.H83Y|ETV7_ENST00000339796.5_Missense_Mutation_p.H138Y	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	138			H -> Y (in dbSNP:rs9470262).		cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						ACTGGAGAGTGCTGGGTGGGC	0.602													G|||	59	0.0117812	0.0446	0.0	5008	,	,		11025	0.0		0.0	False		,,,				2504	0.0				p.H138Y		Atlas-SNP	.											.	ETV7	31	.	0			c.C412T						PASS	.	G	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,,TYR/HIS	156,4250		3,150,2050	27	25	25		412,247,235,412,247,169,,412	2.4	0	6	dbSNP_119	25	0,8598		0,0,4299	yes	missense,missense,missense,missense,missense,missense,utr-5,missense	ETV7	NM_001207035.1,NM_001207036.1,NM_001207037.1,NM_001207038.1,NM_001207039.1,NM_001207040.1,NM_001207041.1,NM_016135.3	83,83,83,83,83,83,,83	3,150,6349	AA,AG,GG		0.0,3.5406,1.1996	benign,benign,benign,benign,benign,benign,,benign	138/318,83/287,79/283,138/265,83/263,57/261,,138/342	36341251	156,12848	2203	4299	6502	SO:0001583	missense	51513	exon4			GAGAGTGCTGGGT	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.412C>T	6.37:g.36341251G>A	ENSP00000341843:p.His138Tyr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	142	63	0.443662	NM_001207035	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	CCDS4819.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	9.065	0.995354	0.19043	0.035406	0.0	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738	T;T;T;T	0.13538	2.96;2.96;2.58;2.68	3.37	2.43	0.29744	.	7.870880	0.00616	U	0.000429	T	0.02727	0.0082	N	0.24115	0.695	0.34145	D	0.66687	B;B;B;B;B;B	0.33135	0.399;0.167;0.255;0.091;0.263;0.34	B;B;B;B;B;B	0.31686	0.134;0.065;0.041;0.105;0.044;0.134	T	0.34825	-0.9813	10	0.02654	T	1	.	9.2275	0.37416	0.0:0.0:0.503:0.497	rs9470262;rs52802542;rs9470262	79;138;83;138;83;138	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	Y	138;138;138;83	ENSP00000342260:H138Y;ENSP00000341843:H138Y;ENSP00000362842:H138Y;ENSP00000362843:H83Y	ENSP00000342260:H138Y	H	-	1	0	ETV7	36449229	0.000000	0.05858	0.007000	0.13788	0.022000	0.10575	0.108000	0.15396	1.446000	0.47643	0.456000	0.33151	CAC	G|0.988;A|0.012	0.012	strong		0.602	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		A	36341251	G	A	36341251	3	1	22	1	0	0	0	0	1	0	0	0	5284	1319	46	2	633	2	ETV7	6	36341251	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2075	36341251	134773816	3692	8800										
ETV7	51513	hgsc.bcm.edu	37	chr6	36343802	36343802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccctgctccacagtgcGggctggatgcctgcaaccag	11	16	0	0	rs2234074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36343802G>A	ENST00000340181.4	-	3	394	c.153C>T	c.(151-153)ccC>ccT	p.P51P	ETV7_ENST00000373737.4_Silent_p.P51P|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000339796.5_Silent_p.P51P	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	51	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TCCACAGTGCGGGCTGGATGC	0.632													G|||	50	0.00998403	0.0378	0.0	5008	,	,		18446	0.0		0.0	False		,,,				2504	0.0				p.P51P		Atlas-SNP	.											.	ETV7	31	.	0			c.C153T						PASS	.	G	,,,,,,,	141,4265	99.8+/-138.5	0,141,2062	58	49	52		153,,,153,,,,153	-2.2	0.8	6	dbSNP_98	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,utr-5,coding-synonymous,intron,utr-5,intron,coding-synonymous	ETV7	NM_001207035.1,NM_001207036.1,NM_001207037.1,NM_001207038.1,NM_001207039.1,NM_001207040.1,NM_001207041.1,NM_016135.3	,,,,,,,	0,142,6361	AA,AG,GG		0.0116,3.2002,1.0918	,,,,,,,	51/318,,,51/265,,,,51/342	36343802	142,12864	2203	4300	6503	SO:0001819	synonymous_variant	51513	exon3			CAGTGCGGGCTGG	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.153C>T	6.37:g.36343802G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_001207035	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	CCDS4819.1																																																																																			G|0.987;A|0.013	0.013	strong		0.632	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		A	36343802	G	A	36343802	2	1	22	1	0	0	0	0	0	0	0	1	5284	1103	39	1		1	ETV7	6	36343802	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2551	36343802	134771265	3693	8801										
CDKN1A	1026	hgsc.bcm.edu	37	chr6	36651971	36651971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacagcgagcagctgagCcgcgactgtgatgcgctaat	15	10	0	2	rs1801270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36651971C>A	ENST00000405375.1	+	2	328	c.93C>A	c.(91-93)agC>agA	p.S31R	CDKN1A_ENST00000373711.2_Missense_Mutation_p.S31R|CDKN1A_ENST00000448526.2_Missense_Mutation_p.S65R|CDKN1A_ENST00000244741.5_Missense_Mutation_p.S31R|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	31			S -> R (in dbSNP:rs1801270). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7655464, ECO:0000269|Ref.8}.		cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGCAGCTGAGCCGCGACTGTG	0.647													C|||	1283	0.25619	0.3094	0.2493	5008	,	,		18195	0.4881		0.0666	False		,,,				2504	0.1452				p.S31R		Atlas-SNP	.											.	CDKN1A	27	.	0			c.C93A	GRCh37	CM940226	CDKN1A	M	rs1801270	PASS	.	C	ARG/SER,ARG/SER,ARG/SER,ARG/SER	1057,3349	376.1+/-321.9	130,797,1276	40	37	38	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	93,93,93,93	-3.6	0.3	6	dbSNP_89	38	602,7998	157.3+/-211.0	21,560,3719	yes	missense,missense,missense,missense	CDKN1A	NM_000389.4,NM_001220777.1,NM_001220778.1,NM_078467.2	110,110,110,110	151,1357,4995	AA,AC,CC		7.0,23.99,12.7557	benign,benign,benign,benign	31/165,31/165,31/165,31/165	36651971	1659,11347	2203	4300	6503	SO:0001583	missense	1026	exon2			GCTGAGCCGCGAC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.93C>A	6.37:g.36651971C>A	ENSP00000384849:p.Ser31Arg	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	74	42	0.567568	NM_001220778	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	539	0.2467948717948718	147	0.29878048780487804	80	0.22099447513812154	262	0.458041958041958	50	0.06596306068601583	C	0.006	-2.057394	0.00390	0.2399	0.07	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.06	-3.6	0.04570	.	0.965863	0.08530	N	0.932136	T	0.30759	0.0775	N	0.05012	-0.13	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.07809	-1.0753	9	0.05351	T	0.99	-7.2889	5.3115	0.15833	0.2314:0.199:0.4908:0.0788	rs1801270;rs3176351;rs17849556;rs17851079;rs1801270	65;31;31	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	R	65;31;31;31	ENSP00000409259:S65R;ENSP00000244741:S31R;ENSP00000384849:S31R;ENSP00000362815:S31R	ENSP00000244741:S31R	S	+	3	2	CDKN1A	36759949	0.925000	0.31364	0.288000	0.24862	0.068000	0.16541	0.270000	0.18607	-0.519000	0.06444	-1.383000	0.01170	AGC	C|0.812;A|0.188	0.188	strong		0.647	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36651971	C	A	36651971	3	1	22	1	0	0	0	0	1	0	0	0	3158	738	26	4	95	4	CDKN1A	6	36651971	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	308169	36651971	134463096	3694	8802										
CDKN1A	1026	hgsc.bcm.edu	37	chr6	36652135	36652135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggggccccggcgaggccGggatgagttgggaggaggca	21	10	0	1	rs566071526		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36652135G>A	ENST00000405375.1	+	2	492	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	CDKN1A_ENST00000373711.2_Missense_Mutation_p.R86Q|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R120Q|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R86Q|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	86					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CGGCGAGGCCGGGATGAGTTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18244	0.001		0.0	False		,,,				2504	0.0				p.R86Q		Atlas-SNP	.											CDKN1A,NS,carcinoma,+1,1	CDKN1A	27	1	0			c.G257A						PASS	.						25	25	25					6																	36652135		2203	4300	6503	SO:0001583	missense	1026	exon2			GAGGCCGGGATGA	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.257G>A	6.37:g.36652135G>A	ENSP00000384849:p.Arg86Gln	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	54	23	0.425926	NM_001220778	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	4.718	0.133545	0.09032	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.16	0.313	0.15842	.	1.118360	0.06876	N	0.801660	T	0.25121	0.0610	L	0.34521	1.04	0.09310	N	1	B;B;B	0.24882	0.113;0.064;0.037	B;B;B	0.16289	0.015;0.006;0.006	T	0.21759	-1.0236	10	0.51188	T	0.08	-1.0186	4.3301	0.11059	0.3607:0.161:0.4783:0.0	.	120;86;86	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	Q	120;86;86;86	ENSP00000409259:R120Q;ENSP00000244741:R86Q;ENSP00000384849:R86Q;ENSP00000362815:R86Q	ENSP00000244741:R86Q	R	+	2	0	CDKN1A	36760113	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.096000	0.11059	-0.131000	0.11578	0.511000	0.50034	CGG	.	.	none		0.652	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36652135	G	A	36652135	3	1	22	1	0	0	0	0	1	0	0	0	3158	1116	39	1	259	1	CDKN1A	6	36652135	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	164	36652135	134462932	3695	8803										
PI16	221476	hgsc.bcm.edu	37	chr6	36922684	36922684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgggcccaggtatccccgAcggcctcagacatgctgcac	11	17	1	1	rs1405069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36922684A>C	ENST00000373674.3	+	1	476	c.148A>C	c.(148-150)Acg>Ccg	p.T50P		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	50	SCP.		T -> P (in dbSNP:rs1405069). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}.		negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTATCCCCGACGGCCTCAGA	0.622													C|||	2725	0.544129	0.7542	0.5692	5008	,	,		16200	0.4841		0.4513	False		,,,				2504	0.3998				p.T50P		Atlas-SNP	.											.	PI16	50	.	0			c.A148C						PASS	.	C	PRO/THR,PRO/THR	3052,1354	445.9+/-347.8	1054,944,205	45	45	45	http://www.ncbi.nlm.nih.gov/pubmed?term	148,148	3.7	0	6	dbSNP_88	45	3833,4767	608.6+/-395.4	841,2151,1308	yes	missense,missense	PI16	NM_001199159.1,NM_153370.2	38,38	1895,3095,1513	CC,CA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	44.5698,30.7308,47.0629	benign,benign	50/464,50/464	36922684	6885,6121	2203	4300	6503	SO:0001583	missense	221476	exon2			TCCCCGACGGCCT		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.148A>C	6.37:g.36922684A>C	ENSP00000362778:p.Thr50Pro	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	93	57	0.612903	NM_001199159	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	1235	0.5654761904761905	382	0.7764227642276422	197	0.5441988950276243	307	0.5367132867132867	349	0.4604221635883905	C	0.006	-2.053793	0.00390	0.692692	0.445698	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.06068	3.35	5.51	3.71	0.42584	CAP domain (3);	0.422460	0.23327	N	0.049395	T	0.00384	0.0012	N	0.00392	-1.555	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45366	-0.9266	9	0.02654	T	1	.	5.8977	0.18949	0.2752:0.5838:0.0:0.141	rs1405069;rs1724101;rs11550708;rs17524663;rs17846145;rs17859153;rs61063989;rs1405069	50;50	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	P	50	ENSP00000362778:T50P	ENSP00000362778:T50P	T	+	1	0	PI16	37030662	0.001000	0.12720	0.003000	0.11579	0.089000	0.18198	0.522000	0.22909	0.291000	0.22468	-0.323000	0.08544	ACG	A|0.456;C|0.544	0.544	strong		0.622	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		C	36922684	A	C	36922684	3	2	22	1	0	0	0	0	1	0	0	0	11869	275	10	5	150	5	PI16	6	36922684	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	270549	36922684	134192383	3696	8804										
PI16	221476	hgsc.bcm.edu	37	chr6	36927136	36927136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccagatgtgcggccactaCacgcaggtgtgggcccggcg	17	13	0	1	rs74853487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36927136C>T	ENST00000373674.3	+	2	715	c.387C>T	c.(385-387)taC>taT	p.Y129Y		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	129	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGGCCACTACACGCAGGTGT	0.736													C|||	209	0.0417332	0.1505	0.0115	5008	,	,		12458	0.0		0.002	False		,,,				2504	0.0				p.Y129Y		Atlas-SNP	.											.	PI16	50	.	0			c.C387T						PASS	.	C	,	454,3804		20,414,1695	11	9	9		387,387	4.5	1	6	dbSNP_131	9	20,8338		0,20,4159	no	coding-synonymous,coding-synonymous	PI16	NM_001199159.1,NM_153370.2	,	20,434,5854	TT,TC,CC		0.2393,10.6623,3.7571	,	129/464,129/464	36927136	474,12142	2129	4179	6308	SO:0001819	synonymous_variant	221476	exon3			CCACTACACGCAG		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.387C>T	6.37:g.36927136C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_001199159	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	CCDS34440.1																																																																																			C|0.966;T|0.034	0.034	strong		0.736	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		T	36927136	C	T	36927136	2	4	22	1	0	0	0	0	0	0	0	1	11869	489	17	2		2	PI16	6	36927136	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4452	36927136	134187931	3697	8805										
PI16	221476	hgsc.bcm.edu	37	chr6	36930795	36930795	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggcgactgaagcatcagActctaggaaaatgggtactc	12	10	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36930795A>T	ENST00000373674.3	+	5	1005	c.677A>T	c.(676-678)gAc>gTc	p.D226V	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	226					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGCATCAGACTCTAGGAAA	0.547																																					p.D226V		Atlas-SNP	.											.	PI16	50	.	0			c.A677T						PASS	.						87	81	83					6																	36930795		2203	4300	6503	SO:0001583	missense	221476	exon6			CATCAGACTCTAG		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.677A>T	6.37:g.36930795A>T	ENSP00000362778:p.Asp226Val	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	130	54	0.415385	NM_001199159	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	A	4.768	0.142776	0.09083	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.06849	3.25	4.56	-5.47	0.02600	.	1.282230	0.05284	N	0.519917	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.46176	-0.9210	10	0.35671	T	0.21	.	2.847	0.05546	0.4899:0.2078:0.1969:0.1054	.	226;226	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	V	226;226;78	ENSP00000362778:D226V	ENSP00000362778:D226V	D	+	2	0	PI16	37038773	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.147000	0.03188	-1.317000	0.02292	-1.155000	0.01812	GAC	.	.	none		0.547	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		T	36930795	A	T	36930795	3	4	22	1	0	0	0	0	1	0	0	0	11869	275	10	5	695	5	PI16	6	36930795	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3659	36930795	134184272	3698	8806										
PI16	221476	hgsc.bcm.edu	37	chr6	36931364	36931364	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccacgggtgggcgtgccCtggctctgcagtcgtccttg	15	13	1	0	rs16889318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36931364C>G	ENST00000373674.3	+	5	1574	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	416			L -> V (in dbSNP:rs16889318).		negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGGCGTGCCCTGGCTCTGCA	0.607													C|||	522	0.104233	0.2504	0.0807	5008	,	,		22911	0.0278		0.004	False		,,,				2504	0.1053				p.L416V		Atlas-SNP	.											.	PI16	50	.	0			c.C1246G						PASS	.	C	VAL/LEU,VAL/LEU	881,3525	337.8+/-305.0	88,705,1410	57	58	57		1246,1246	4.1	1	6	dbSNP_123	57	28,8572	20.4+/-63.3	0,28,4272	yes	missense,missense	PI16	NM_001199159.1,NM_153370.2	32,32	88,733,5682	GG,GC,CC		0.3256,19.9955,6.9891	probably-damaging,probably-damaging	416/464,416/464	36931364	909,12097	2203	4300	6503	SO:0001583	missense	221476	exon6			CGTGCCCTGGCTC		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1246C>G	6.37:g.36931364C>G	ENSP00000362778:p.Leu416Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	123	57	0.463415	NM_001199159	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	165	0.07554945054945054	116	0.23577235772357724	29	0.08011049723756906	17	0.02972027972027972	3	0.00395778364116095	C	17.47	3.396570	0.62177	0.199955	0.003256	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.19806	2.12	4.94	4.08	0.47627	.	0.000000	0.37178	N	0.002204	T	0.19046	0.0457	L	0.32530	0.975	0.09310	P	1.0	D	0.71674	0.998	D	0.63877	0.919	T	0.03630	-1.1018	9	0.56958	D	0.05	.	11.1122	0.48239	0.0:0.9104:0.0:0.0896	rs16889318;rs16889318	416	Q6UXB8	PI16_HUMAN	V	416;268	ENSP00000362778:L416V	ENSP00000362778:L416V	L	+	1	2	PI16	37039342	0.987000	0.35691	0.999000	0.59377	0.773000	0.43773	0.639000	0.24690	1.325000	0.45301	-0.258000	0.10820	CTG	C|0.929;G|0.071	0.071	strong		0.607	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		G	36931364	C	G	36931364	3	3	22	1	0	0	0	0	1	0	0	0	11869	680	24	4	1264	4	PI16	6	36931364	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	569	36931364	134183703	3699	8807										
FGD2	221472	hgsc.bcm.edu	37	chr6	36976637	36976637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcagcacccagaggccaGaggctagaggacgtgcatca	14	11	1	3	rs831510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36976637G>C	ENST00000274963.8	+	2	267	c.96G>C	c.(94-96)caG>caC	p.Q32H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	32			Q -> H (in dbSNP:rs831510). {ECO:0000269|PubMed:15489334}.		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)	p.Q32H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCAGAGGCCAGAGGCTAGAGG	0.637													C|||	1632	0.325879	0.264	0.3761	5008	,	,		18864	0.5417		0.2575	False		,,,				2504	0.2219				p.Q32H		Atlas-SNP	.											FGD2,NS,carcinoma,0,1	FGD2	65	1	1	Substitution - Missense(1)	prostate(1)	c.G96C						PASS	.	C	HIS/GLN	1276,3130	680.9+/-403.9	197,882,1124	50	57	55		96	2.2	0	6	dbSNP_86	55	2137,6463	696.1+/-404.9	281,1575,2444	yes	missense	FGD2	NM_173558.3	24	478,2457,3568	CC,CG,GG		24.8488,28.9605,26.2417	benign	32/656	36976637	3413,9593	2203	4300	6503	SO:0001583	missense	221472	exon2			AGGCCAGAGGCTA	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.96G>C	6.37:g.36976637G>C	ENSP00000274963:p.Gln32His	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	177	87	0.491525	NM_173558	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	777	0.3557692307692308	142	0.2886178861788618	122	0.3370165745856354	311	0.5437062937062938	202	0.26649076517150394	C	0.024	-1.385287	0.01194	0.289605	0.248488	ENSG00000146192	ENST00000274963	T	0.58210	0.35	5.0	2.16	0.27623	.	0.767167	0.11414	N	0.566460	T	0.06142	0.0159	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	9	0.12766	T	0.61	.	4.6034	0.12364	0.0:0.5542:0.1599:0.2858	rs831510;rs17855748;rs17856702;rs52822242;rs57642495;rs831510	32;32	Q7Z6J4;F8WEZ2	FGD2_HUMAN;.	H	32	ENSP00000274963:Q32H	ENSP00000274963:Q32H	Q	+	3	2	FGD2	37084615	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.243000	0.18106	0.157000	0.19338	-0.647000	0.03941	CAG	G|0.699;C|0.301	0.301	strong		0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		C	36976637	G	C	36976637	3	2	22	1	0	0	0	0	1	0	0	0	5833	933	33	4	102	4	FGD2	6	36976637	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45273	36976637	134138430	3700	8808										
FGD2	221472	hgsc.bcm.edu	37	chr6	36995222	36995222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaaagggtcctcagccacGcctgaccagagcctgatgtg	12	12	1	4	rs2274587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:36995222G>A	ENST00000274963.8	+	15	1794	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	541					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						CCTCAGCCACGCCTGACCAGA	0.612													G|||	1139	0.227436	0.2035	0.2248	5008	,	,		19191	0.501		0.1054	False		,,,				2504	0.1053				p.T541T		Atlas-SNP	.											.	FGD2	65	.	0			c.G1623A						PASS	.	G		782,3624	315.8+/-294.3	78,626,1499	108	109	109		1623	-1	0	6	dbSNP_100	109	778,7822	185.0+/-232.9	36,706,3558	no	coding-synonymous	FGD2	NM_173558.3		114,1332,5057	AA,AG,GG		9.0465,17.7485,11.9945		541/656	36995222	1560,11446	2203	4300	6503	SO:0001819	synonymous_variant	221472	exon15			AGCCACGCCTGAC	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.1623G>A	6.37:g.36995222G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	170	94	0.552941	NM_173558	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	CCDS4829.1																																																																																			G|0.824;A|0.175	0.175	strong		0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		A	36995222	G	A	36995222	2	1	22	1	0	0	0	0	0	0	0	1	5833	1074	38	1		1	FGD2	6	36995222	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18585	36995222	134119845	3701	8809										
FTSJD2	23070	hgsc.bcm.edu	37	chr6	37426429	37426429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctgagcttctgtacttTgctgatgtctgcgcaggccc	12	11	2	2	rs35608753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:37426429T>C	ENST00000373451.4	+	9	983	c.819T>C	c.(817-819)ttT>ttC	p.F273F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	273	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TTCTGTACTTTGCTGATGTCT	0.527													T|||	46	0.0091853	0.031	0.0072	5008	,	,		19737	0.0		0.0	False		,,,				2504	0.0				p.F273F		Atlas-SNP	.											.	FTSJD2	64	.	0			c.T819C						PASS	.	T		196,4210	122.5+/-159.9	3,190,2010	87	77	80		819	3.5	1	6	dbSNP_126	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FTSJD2	NM_015050.2		3,191,6309	CC,CT,TT		0.0116,4.4485,1.5147		273/836	37426429	197,12809	2203	4300	6503	SO:0001819	synonymous_variant	23070	exon9			GTACTTTGCTGAT	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.819T>C	6.37:g.37426429T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	156	67	0.429487	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																			T|0.986;C|0.014	0.014	strong		0.527	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		C	37426429	T	C	37426429	2	2	22	1	0	0	0	0	0	0	0	1	6091	1809	63	2		2	FTSJD2	6	37426429	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	431207	37426429	133688638	3702	8810										
GLO1	2739	hgsc.bcm.edu	37	chr6	38650588	38650588	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacaggcaaacttaccgaaTcctcgagggtctgaattgcc	9	11	1	1	rs1130534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38650588T>A	ENST00000373365.4	-	4	458	c.372A>T	c.(370-372)ggA>ggT	p.G124G	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	124					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	ACTTACCGAATCCTCGAGGGT	0.348													T|||	1176	0.234824	0.3525	0.1643	5008	,	,		16878	0.2312		0.1272	False		,,,				2504	0.2403				p.G124G		Atlas-SNP	.											.	GLO1	12	.	0			c.A372T						PASS	.	T		1334,3072	446.3+/-348.0	215,904,1084	142	119	127		372	1.9	1	6	dbSNP_86	127	1001,7599	215.6+/-254.9	61,879,3360	no	coding-synonymous	GLO1	NM_006708.2		276,1783,4444	AA,AT,TT		11.6395,30.2769,17.9533		124/185	38650588	2335,10671	2203	4300	6503	SO:0001819	synonymous_variant	2739	exon4			ACCGAATCCTCGA	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.372A>T	6.37:g.38650588T>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	85	37	0.435294	NM_006708	B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	CCDS4837.1																																																																																			T|0.811;A|0.189	0.189	strong		0.348	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		A	38650588	T	A	38650588	2	1	22	1	0	0	0	0	0	0	0	1	6449	1422	50	5		5	GLO1	6	38650588	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1224159	38650588	132464479	3703	8811										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38743649	38743649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggggttaagaaaaagcaAtatgacattctggatccaag	10	6	1	2	rs149534667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38743649A>G	ENST00000359357.3	+	11	1487	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	DNAH8_ENST00000441566.1_Silent_p.Q411Q|DNAH8_ENST00000449981.2_Silent_p.Q628Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	411					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAAAAGCAATATGACATTC	0.303													A|||	21	0.00419329	0.0151	0.0014	5008	,	,		17047	0.0		0.0	False		,,,				2504	0.0				p.Q628Q		Atlas-SNP	.											.	DNAH8	1239	.	0			c.A1884G						PASS	.	A		49,4355	48.2+/-83.0	1,47,2154	84	97	93		1884	-3.2	0.9	6	dbSNP_134	93	3,8565	3.0+/-9.4	0,3,4281	no	coding-synonymous	DNAH8	NM_001206927.1		1,50,6435	GG,GA,AA		0.035,1.1126,0.4009		628/4708	38743649	52,12920	2202	4284	6486	SO:0001819	synonymous_variant	1769	exon13			AAAGCAATATGAC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1233A>G	6.37:g.38743649A>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	149	59	0.395973	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				A|0.995;G|0.005	0.005	strong		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38743649	A	G	38743649	2	3	22	1	0	0	0	0	0	0	0	1	4607	98	4	2		2	DNAH8	6	38743649	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93061	38743649	132371418	3704	8812										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38781866	38781866	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcagaagatattatttcCtttataaaaagtgaagtaca	6	5	1	3	rs1678690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38781866C>G	ENST00000359357.3	+	23	2897	c.2643C>G	c.(2641-2643)tcC>tcG	p.S881S	DNAH8_ENST00000441566.1_Silent_p.S881S|DNAH8_ENST00000449981.2_Silent_p.S1098S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	881					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)	p.S881S(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATTATTTCCTTTATAAAAA	0.313													C|||	2510	0.501198	0.3124	0.5908	5008	,	,		18086	0.7946		0.3748	False		,,,				2504	0.5204				p.S1098S		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,0,1	DNAH8	1239	1	1	Substitution - coding silent(1)	prostate(1)	c.C3294G						PASS	.	C		1493,2913	473.1+/-356.6	252,989,962	115	127	123		3294	2.1	1	6	dbSNP_89	123	3726,4874	529.8+/-381.7	823,2080,1397	no	coding-synonymous	DNAH8	NM_001206927.1		1075,3069,2359	GG,GC,CC		43.3256,33.8856,40.1276		1098/4708	38781866	5219,7787	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon25			TATTTCCTTTATA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2643C>G	6.37:g.38781866C>G		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	165	88	0.533333	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				C|0.558;G|0.442	0.442	strong		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38781866	C	G	38781866	2	3	22	1	0	0	0	0	0	0	0	1	4607	668	24	4		4	DNAH8	6	38781866	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38217	38781866	132333201	3705	8813										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38800164	38800164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaatctacttgagtctgtgGaagtttttcgtgaggacgtg	13	6	2	2	rs9357283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38800164G>A	ENST00000359357.3	+	29	3858	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1202K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1419K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1202			E -> K (in dbSNP:rs9357283). {ECO:0000269|PubMed:12297094}.		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)	p.E1202K(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGTCTGTGGAAGTTTTTCG	0.343													G|||	913	0.182308	0.1415	0.1556	5008	,	,		20049	0.3423		0.1074	False		,,,				2504	0.1687				p.E1419K		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,0,1	DNAH8	1239	1	1	Substitution - Missense(1)	stomach(1)	c.G4255A						PASS	.	G	LYS/GLU	638,3768	272.5+/-270.8	45,548,1610	130	122	125		4255	4.5	1	6	dbSNP_119	125	1188,7412	240.8+/-271.4	71,1046,3183	yes	missense	DNAH8	NM_001206927.1	56	116,1594,4793	AA,AG,GG		13.814,14.4803,14.0397	benign	1419/4708	38800164	1826,11180	2203	4300	6503	SO:0001583	missense	1769	exon31			TCTGTGGAAGTTT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3604G>A	6.37:g.38800164G>A	ENSP00000352312:p.Glu1202Lys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	117	46	0.393162	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		381	0.17445054945054944	63	0.12804878048780488	50	0.13812154696132597	195	0.3409090909090909	73	0.09630606860158311	G	8.047	0.765224	0.15914	0.144803	0.13814	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.83;1.82;1.77	5.41	4.53	0.55603	.	0.264968	0.36066	N	0.002816	T	0.06096	0.0158	L	0.31157	0.91	0.30677	P	0.75271	B	0.02656	0.0	B	0.06405	0.002	T	0.23048	-1.0199	9	0.10377	T	0.69	.	10.1478	0.42774	0.073:0.1359:0.7911:0.0	rs9357283;rs59127177;rs9357283	1202	Q96JB1	DYH8_HUMAN	K	1407;1407;1202;1202	ENSP00000333363:E1407K;ENSP00000352312:E1202K;ENSP00000402294:E1202K	ENSP00000333363:E1407K	E	+	1	0	DNAH8	38908142	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.663000	0.46774	1.261000	0.44149	0.563000	0.77884	GAA	G|0.840;A|0.160	0.160	strong		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38800164	G	A	38800164	3	1	22	1	0	0	0	0	1	0	0	0	4607	1175	41	2	3710	2	DNAH8	6	38800164	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18298	38800164	132314903	3706	8814										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38825329	38825329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcagatgttgtggacacaCgattcagaagaggctttacg	11	7	2	3	rs2061907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38825329C>T	ENST00000359357.3	+	40	5372	c.5118C>T	c.(5116-5118)caC>caT	p.H1706H	DNAH8_ENST00000441566.1_Silent_p.H1706H|DNAH8_ENST00000449981.2_Silent_p.H1923H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1706					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTGGACACACGATTCAGAAG	0.338													C|||	2425	0.484225	0.3555	0.6037	5008	,	,		19122	0.6944		0.3767	False		,,,				2504	0.4673				p.H1923H		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,0,4	DNAH8	1239	4	0			c.C5769T						scavenged	.	C		1571,2835	489.9+/-361.6	290,991,922	99	98	98		5769	-0.6	1	6	dbSNP_94	98	3671,4929	525.5+/-380.8	786,2099,1415	no	coding-synonymous	DNAH8	NM_001206927.1		1076,3090,2337	TT,TC,CC		42.686,35.6559,40.3045		1923/4708	38825329	5242,7764	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon42			GACACACGATTCA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5118C>T	6.37:g.38825329C>T		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	165	75	0.454545	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				C|0.559;T|0.441	0.441	strong		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38825329	C	T	38825329	2	4	22	1	0	0	0	0	0	0	0	1	4607	535	19	1		1	DNAH8	6	38825329	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25165	38825329	132289738	3707	8815										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38841101	38841101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatacatacacatatatgaaGctaaatctcaatcccaaaat	3	9	1	1	rs9380795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38841101G>A	ENST00000359357.3	+	50	7172	c.6918G>A	c.(6916-6918)aaG>aaA	p.K2306K	DNAH8_ENST00000441566.1_Silent_p.K2270K|DNAH8_ENST00000449981.2_Silent_p.K2523K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2306	AAA 2. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATATATGAAGCTAAATCTCA	0.358													A|||	2671	0.533347	0.3601	0.6138	5008	,	,		20435	0.8333		0.3767	False		,,,				2504	0.5624				p.K2523K		Atlas-SNP	.											.	DNAH8	1239	.	0			c.G7569A						PASS	.	A		1583,2823	667.0+/-401.8	296,991,916	105	94	98		7569	1.9	1	6	dbSNP_119	98	3682,4918	622.1+/-397.3	790,2102,1408	no	coding-synonymous	DNAH8	NM_001206927.1		1086,3093,2324	AA,AG,GG		42.814,35.9283,40.4813		2523/4708	38841101	5265,7741	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon52			TATGAAGCTAAAT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6918G>A	6.37:g.38841101G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	89	43	0.483146	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				G|0.558;A|0.442	0.442	strong		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38841101	G	A	38841101	2	1	22	1	0	0	0	0	0	0	0	1	4607	962	34	2		2	DNAH8	6	38841101	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15772	38841101	132273966	3708	8816										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38843426	38843426	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggcggtgtttcctgtgtCgaacatcttcataaattatt	9	7	2	0	rs6458080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38843426C>T	ENST00000359357.3	+	51	7283	c.7029C>T	c.(7027-7029)gtC>gtT	p.V2343V	DNAH8_ENST00000441566.1_Silent_p.V2307V|DNAH8_ENST00000449981.2_Silent_p.V2560V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2343					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCCTGTGTCGAACATCTTC	0.363													C|||	2676	0.534345	0.3638	0.6138	5008	,	,		14846	0.8333		0.3767	False		,,,				2504	0.5624				p.V2560V		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,+1,2	DNAH8	1239	2	0			c.C7680T						PASS	.	C		1608,2798	496.4+/-363.5	304,1000,899	78	77	77		7680	-6.9	0	6	dbSNP_116	77	3682,4918	526.6+/-381.0	790,2102,1408	no	coding-synonymous	DNAH8	NM_001206927.1		1094,3102,2307	TT,TC,CC		42.814,36.4957,40.6735		2560/4708	38843426	5290,7716	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon53			CTGTGTCGAACAT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7029C>T	6.37:g.38843426C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	87	41	0.471264	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				C|0.539;T|0.461	0.461	strong		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38843426	C	T	38843426	2	4	22	1	0	0	0	0	0	0	0	1	4607	871	31	1		1	DNAH8	6	38843426	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2325	38843426	132271641	3709	8817										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38851669	38851669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagagaacaattgaaagctaCgtggataagcgaattggaag	12	4	0	2	rs4714192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:38851669C>T	ENST00000359357.3	+	54	7757	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y	DNAH8_ENST00000441566.1_Silent_p.Y2465Y|DNAH8_ENST00000449981.2_Silent_p.Y2718Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2501	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y2501Y(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGAAAGCTACGTGGATAAGC	0.363													C|||	1220	0.24361	0.1339	0.2262	5008	,	,		12180	0.3512		0.1978	False		,,,				2504	0.3405				p.Y2718Y		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,0,1	DNAH8	1239	1	1	Substitution - coding silent(1)	stomach(1)	c.C8154T						PASS	.	C		651,3755	277.2+/-273.6	63,525,1615	107	108	107		8154	-1.3	1	6	dbSNP_111	107	2078,6522	359.5+/-331.6	244,1590,2466	no	coding-synonymous	DNAH8	NM_001206927.1		307,2115,4081	TT,TC,CC		24.1628,14.7753,20.9826		2718/4708	38851669	2729,10277	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon56			AAGCTACGTGGAT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7503C>T	6.37:g.38851669C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	46	20	0.434783	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				C|0.782;T|0.218	0.218	strong		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38851669	C	T	38851669	2	4	22	1	0	0	0	0	0	0	0	1	4607	547	19	1		1	DNAH8	6	38851669	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8243	38851669	132263398	3710	8818										
KCNK5	8645	hgsc.bcm.edu	37	chr6	39158773	39158773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggactcggaggaggaggGgaactcgcccatgttcaggg	19	8	1	0	rs9462487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:39158773G>T	ENST00000359534.3	-	5	1731	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	465			P -> T (in dbSNP:rs9462487).		excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAGGAGGAGGGGAACTCGCCC	0.602													G|||	91	0.0181709	0.0666	0.0043	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0				p.P465T		Atlas-SNP	.											.	KCNK5	57	.	0			c.C1393A						PASS	.	G	THR/PRO	243,4163		9,225,1969	55	47	50		1393	5.9	1	6	dbSNP_119	50	2,8596		0,2,4297	yes	missense	KCNK5	NM_003740.3	38	9,227,6266	TT,TG,GG		0.0233,5.5152,1.884	benign	465/500	39158773	245,12759	2203	4299	6502	SO:0001583	missense	8645	exon5			AGGAGGGGAACTC	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1393C>A	6.37:g.39158773G>T	ENSP00000352527:p.Pro465Thr	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	59	27	0.457627	NM_003740	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	G	10.53	1.376641	0.24857	0.055152	2.33E-4	ENSG00000164626	ENST00000359534	T	0.19669	2.13	5.94	5.94	0.96194	.	1.555240	0.03069	N	0.156855	T	0.08223	0.0205	N	0.17082	0.46	0.32749	N	0.506676	P	0.42456	0.78	B	0.40636	0.335	T	0.00433	-1.1742	10	0.44086	T	0.13	.	8.6716	0.34154	0.1137:0.1388:0.7475:0.0	rs9462487;rs9462487	465	O95279	KCNK5_HUMAN	T	465	ENSP00000352527:P465T	ENSP00000352527:P465T	P	-	1	0	KCNK5	39266751	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.915000	0.39976	2.826000	0.97356	0.561000	0.74099	CCC	G|0.980;T|0.020	0.020	strong		0.602	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		T	39158773	G	T	39158773	3	4	22	1	0	0	0	0	1	0	0	0	8069	1232	43	4	110	4	KCNK5	6	39158773	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	307104	39158773	131956294	3711	8819										
KCNK17	89822	hgsc.bcm.edu	37	chr6	39267315	39267315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggagtgggactctggctccCggtcaggtccctgtctccag	15	13	3	0	rs2758910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:39267315C>T	ENST00000373231.4	-	5	1119	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	296			R -> Q (in dbSNP:rs2758910).		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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CTCTGGCTCCCGGTCAGGTCC	0.587													c|||	39	0.00778754	0.0287	0.0014	5008	,	,		20167	0.0		0.0	False		,,,				2504	0.0				p.R296Q		Atlas-SNP	.											KCNK17,NS,carcinoma,-1,1	KCNK17	61	1	0			c.G887A						PASS	.	T	,GLN/ARG	142,4264	101.2+/-139.8	1,140,2062	90	79	83		,887	-2.5	0	6	dbSNP_100	83	0,8600		0,0,4300	yes	utr-3,missense	KCNK17	NM_001135111.1,NM_031460.3	,43	1,140,6362	TT,TC,CC		0.0,3.2229,1.0918	,benign	,296/333	39267315	142,12864	2203	4300	6503	SO:0001583	missense	89822	exon5			GGCTCCCGGTCAG	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.887G>A	6.37:g.39267315C>T	ENSP00000362328:p.Arg296Gln	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	165	80	0.484848	NM_031460	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	c	10.09	1.254922	0.22965	0.032229	0.0	ENSG00000124780	ENST00000373231	T	0.15603	2.41	4.25	-2.45	0.06481	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.47262	-0.9131	9	0.11182	T	0.66	.	5.3132	0.15841	0.0:0.4054:0.1426:0.452	rs2758910;rs52820365;rs2758910	296	Q96T54	KCNKH_HUMAN	Q	296	ENSP00000362328:R296Q	ENSP00000362328:R296Q	R	-	2	0	KCNK17	39375293	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.463000	0.06696	-0.926000	0.03770	-0.119000	0.15052	CGG	C|0.989;T|0.011	0.011	strong		0.587	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		T	39267315	C	T	39267315	3	4	22	1	0	0	0	0	1	0	0	0	8064	652	23	1	115	1	KCNK17	6	39267315	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108542	39267315	131847752	3712	8820										
KIF6	221458	hgsc.bcm.edu	37	chr6	39688551	39688551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaagatgatttccaagcTaggtattaatttttcatctt	7	5	2	2	rs114269617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:39688551T>C	ENST00000287152.7	-	2	197	c.103A>G	c.(103-105)Agc>Ggc	p.S35G	KIF6_ENST00000373215.3_Missense_Mutation_p.S35G|KIF6_ENST00000373216.3_Missense_Mutation_p.S35G|KIF6_ENST00000538893.1_Missense_Mutation_p.S35G	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	35	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)|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						ATTTCCAAGCTAGGTATTAAT	0.318													T|||	48	0.00958466	0.0325	0.0014	5008	,	,		18134	0.0		0.004	False		,,,				2504	0.0				p.S35G		Atlas-SNP	.											.	KIF6	233	.	0			c.A103G						PASS	.	T	GLY/SER	184,4222	117.5+/-155.4	2,180,2021	97	101	100		103	0.2	0.4	6	dbSNP_132	100	3,8597	1.2+/-3.3	0,3,4297	yes	missense	KIF6	NM_145027.4	56	2,183,6318	CC,CT,TT		0.0349,4.1761,1.4378	possibly-damaging	35/815	39688551	187,12819	2203	4300	6503	SO:0001583	missense	221458	exon2			CCAAGCTAGGTAT	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.103A>G	6.37:g.39688551T>C	ENSP00000287152:p.Ser35Gly	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	59	31	0.525424	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	27	0.012362637362637362	23	0.046747967479674794	0	0.0	0	0.0	4	0.005277044854881266	T	11.68	1.711929	0.30322	0.041761	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.06	0.196	0.15159	Kinesin, motor domain (3);	.	.	.	.	T	0.43590	0.1254	L	0.47190	1.495	0.09310	N	1	B;B;B	0.25390	0.021;0.005;0.125	B;B;B	0.34452	0.018;0.008;0.183	T	0.46992	-0.9151	9	0.42905	T	0.14	.	4.8731	0.13642	0.3772:0.0982:0.0:0.5246	.	35;35;35	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	G	35	ENSP00000287152:S35G;ENSP00000362312:S35G;ENSP00000362311:S35G;ENSP00000441435:S35G	ENSP00000287152:S35G	S	-	1	0	KIF6	39796529	0.318000	0.24598	0.387000	0.26183	0.989000	0.77384	0.951000	0.29135	0.492000	0.27815	0.533000	0.62120	AGC	T|0.984;C|0.016	0.016	strong		0.318	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		C	39688551	T	C	39688551	3	2	22	1	0	0	0	0	1	0	0	0	8308	1522	53	3	2429	3	KIF6	6	39688551	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	421236	39688551	131426516	3713	8821										
DAAM2	23500	hgsc.bcm.edu	37	chr6	39847153	39847153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcatgggcctgcccctccCtcaggacccctaccccagca	9	21	1	0	rs150676991	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:39847153C>A	ENST00000398904.2	+	14	1927	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	DAAM2_ENST00000538976.1_Missense_Mutation_p.P582H|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.P582H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	582	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCCCCTCCCTCAGGACCCC	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12540	0.0		0.0	False		,,,				2504	0.0				p.P582H		Atlas-SNP	.											.	DAAM2	101	.	0			c.C1745A						PASS	.	C	HIS/PRO,HIS/PRO	8,3826		0,8,1909	44	46	45		1745,1745	5.2	0.9	6	dbSNP_134	45	14,8208		0,14,4097	yes	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	77,77	0,22,6006	AA,AC,CC		0.1703,0.2087,0.1825	benign,benign	582/1069,582/1068	39847153	22,12034	1917	4111	6028	SO:0001583	missense	23500	exon14			CCCTCCCTCAGGA	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1745C>A	6.37:g.39847153C>A	ENSP00000381876:p.Pro582His	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	250	110	0.44	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	16.94	3.261074	0.59431	0.002087	0.001703	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.84146	-1.81;-1.81;-1.79	5.15	5.15	0.70609	Actin-binding FH2 (1);	0.215647	0.39407	N	0.001370	T	0.65302	0.2678	N	0.08118	0	0.80722	D	1	P;B	0.40875	0.731;0.38	B;B	0.42555	0.391;0.159	T	0.73799	-0.3869	10	0.46703	T	0.11	.	13.0249	0.58808	0.0:0.9199:0.0:0.0801	.	582;582	G5EA45;Q86T65	.;DAAM2_HUMAN	H	582	ENSP00000274867:P582H;ENSP00000381876:P582H;ENSP00000437808:P582H	ENSP00000274867:P582H	P	+	2	0	DAAM2	39955131	0.989000	0.36119	0.881000	0.34555	0.838000	0.47535	3.359000	0.52292	2.383000	0.81215	0.650000	0.86243	CCT	C|0.998;A|0.002	0.002	strong		0.652	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39847153	C	A	39847153	3	1	22	1	0	0	0	0	1	0	0	0	4216	681	24	4	1795	4	DAAM2	6	39847153	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	158602	39847153	131267914	3714	8822										
LRFN2	57497	hgsc.bcm.edu	37	chr6	40400823	40400823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcaaacgccatgccaaaCgctagcaggccaccaagcag	10	15	0	0	rs61731039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:40400823C>T	ENST00000338305.6	-	2	572	c.30G>A	c.(28-30)gcG>gcA	p.A10A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	10						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATGCCAAACGCTAGCAGGC	0.597													c|||	248	0.0495208	0.1785	0.0144	5008	,	,		18737	0.0		0.002	False		,,,				2504	0.0				p.A10A		Atlas-SNP	.											LRFN2,NS,carcinoma,-1,1	LRFN2	133	1	0			c.G30A						PASS	.	T		702,3704	266.8+/-267.5	63,576,1564	36	38	37		30	-1.2	1	6	dbSNP_129	37	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous	LRFN2	NM_020737.1		63,589,5851	TT,TC,CC		0.1512,15.9328,5.4975		10/790	40400823	715,12291	2203	4300	6503	SO:0001819	synonymous_variant	57497	exon2			GCCAAACGCTAGC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.30G>A	6.37:g.40400823C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	69	35	0.507246	NM_020737	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																			C|0.950;T|0.050	0.050	strong		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40400823	C	T	40400823	2	4	22	1	0	0	0	0	0	0	0	1	8938	523	19	1		1	LRFN2	6	40400823	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	553670	40400823	130714244	3715	8823										
TREML1	340205	hgsc.bcm.edu	37	chr6	41117586	41117586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtgagtcaagcctaatgTgtggtacatccaaaggcaat	12	7	1	1	rs34254490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41117586T>G	ENST00000426005.2	-	6	735	c.692A>C	c.(691-693)cAc>cCc	p.H231P	TREML1_ENST00000437044.2_Missense_Mutation_p.H120P|TREML1_ENST00000373127.4_3'UTR	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	231	Pro-rich.		H -> P (in dbSNP:rs34254490).		calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGCCTAATGTGTGGTACATC	0.507													T|||	138	0.0275559	0.1029	0.0029	5008	,	,		19751	0.0		0.0	False		,,,				2504	0.0				p.H231P		Atlas-SNP	.											.	TREML1	20	.	0			c.A692C						PASS	.	T	PRO/HIS	347,4059	175.9+/-205.1	18,311,1874	174	154	161		692	4.5	0	6	dbSNP_126	161	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TREML1	NM_178174.2	77	18,312,6173	GG,GT,TT		0.0116,7.8756,2.6757	benign	231/312	41117586	348,12658	2203	4300	6503	SO:0001583	missense	340205	exon6			CTAATGTGTGGTA	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.692A>C	6.37:g.41117586T>G	ENSP00000402855:p.His231Pro	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	148	77	0.52027	NM_178174	Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	49	0.022435897435897436	49	0.09959349593495935	0	0.0	0	0.0	0	0.0	T	12.67	2.007412	0.35415	0.078756	1.16E-4	ENSG00000161911	ENST00000373127;ENST00000437044	T	0.46819	0.86	5.71	4.52	0.55395	.	0.532842	0.17347	N	0.177556	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B;B	0.22683	0.073;0.072	B;B	0.25405	0.06;0.027	T	0.18053	-1.0349	10	0.66056	D	0.02	.	9.718	0.40286	0.0:0.0:0.1745:0.8255	rs34254490;rs60023904	120;231	Q86YW5-3;Q86YW5	.;TRML1_HUMAN	P	231;120	ENSP00000400405:H120P	ENSP00000362219:H231P	H	-	2	0	TREML1	41225564	0.001000	0.12720	0.001000	0.08648	0.184000	0.23303	0.517000	0.22832	0.954000	0.37851	0.533000	0.62120	CAC	T|0.975;G|0.025	0.025	strong		0.507	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		G	41117586	T	G	41117586	3	3	22	1	0	0	0	0	1	0	0	0	16469	1696	59	5	245	5	TREML1	6	41117586	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	716763	41117586	129997481	3716	8824										
TREM1	54210	hgsc.bcm.edu	37	chr6	41243926	41243926	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaccaggctcttactcagGaatccaccagccaggagaat	9	12	2	2	rs2234245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41243926G>C	ENST00000244709.4	-	4	705	c.642C>G	c.(640-642)ttC>ttG	p.F214L	TREM1_ENST00000589614.1_Intron|TREM1_ENST00000334475.6_Missense_Mutation_p.S150C	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	214			F -> L (in dbSNP:rs2234245).		blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCTTACTCAGGAATCCACCAG	0.547													G|||	140	0.0279553	0.1006	0.0101	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0				p.F214L		Atlas-SNP	.											.	TREM1	38	.	0			c.C642G						PASS	.	G	CYS/SER,LEU/PHE	299,4107	162.5+/-194.5	11,277,1915	174	143	154		449,642	1	0.1	6	dbSNP_98	154	7,8593	5.0+/-18.6	0,7,4293	yes	missense,missense	TREM1	NM_001242590.1,NM_018643.3	112,22	11,284,6208	CC,CG,GG		0.0814,6.7862,2.3528	possibly-damaging,possibly-damaging	150/151,214/235	41243926	306,12700	2203	4300	6503	SO:0001583	missense	54210	exon4			ACTCAGGAATCCA	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.642C>G	6.37:g.41243926G>C	ENSP00000244709:p.Phe214Leu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_018643	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	46|46	0.021062271062271064|0.021062271062271064	41|41	0.08333333333333333|0.08333333333333333	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.63|18.63	3.665281|3.665281	0.67700|0.67700	0.067862|0.067862	8.14E-4|8.14E-4	ENSG00000124731|ENSG00000124731	ENST00000244709|ENST00000334475	T|T	0.04194|0.14144	3.68|2.53	4.86|4.86	1.0|1.0	0.19881|0.19881	.|.	0.883988|.	0.09394|.	N|.	0.808190|.	T|T	0.04543|0.04543	0.0124|0.0124	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999924|0.999924	B|P	0.02656|0.41546	0.0|0.754	B|B	0.01281|0.41299	0.0|0.353	T|T	0.30650|0.30650	-0.9971|-0.9971	9|8	0.02654|0.87932	T|D	1|0	-4.1779|-4.1779	4.7266|4.7266	0.12943|0.12943	0.2677:0.1574:0.5749:0.0|0.2677:0.1574:0.5749:0.0	rs2234245|rs2234245	214|150	Q9NP99|Q9NP99-2	TREM1_HUMAN|.	L|C	214|150	ENSP00000244709:F214L|ENSP00000334284:S150C	ENSP00000244709:F214L|ENSP00000334284:S150C	F|S	-|-	3|2	2|0	TREM1|TREM1	41351904|41351904	0.593000|0.593000	0.26840|0.26840	0.056000|0.056000	0.19401|0.19401	0.730000|0.730000	0.41778|0.41778	0.268000|0.268000	0.18571|0.18571	0.059000|0.059000	0.16252|0.16252	0.655000|0.655000	0.94253|0.94253	TTC|TCC	G|0.979;C|0.021	0.021	strong		0.547	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		C	41243926	G	C	41243926	3	2	22	1	0	0	0	0	1	0	0	0	16467	1165	41	4	66	4	TREM1	6	41243926	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126340	41243926	129871141	3717	8825										
NCR2	9436	hgsc.bcm.edu	37	chr6	41318578	41318578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaggactaagataagcgaTgatgatgatgaacacacttt	10	6	0	5	rs115509322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41318578T>C	ENST00000373089.5	+	5	895	c.807T>C	c.(805-807)gaT>gaC	p.D269D	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	269	Poly-Asp.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					agataagcgatgatgatgatg	0.398													T|||	43	0.00858626	0.0272	0.0058	5008	,	,		22654	0.0		0.003	False		,,,				2504	0.0				p.D269D		Atlas-SNP	.											.	NCR2	44	.	0			c.T807C						PASS	.	T	,,	118,4288	89.7+/-128.4	1,116,2086	95	89	91		,,807	-2.5	0	6	dbSNP_132	91	17,8583	12.6+/-44.7	0,17,4283	no	utr-3,utr-3,coding-synonymous	NCR2	NM_001199509.1,NM_001199510.1,NM_004828.3	,,	1,133,6369	CC,CT,TT		0.1977,2.6782,1.038	,,	,,269/277	41318578	135,12871	2203	4300	6503	SO:0001819	synonymous_variant	9436	exon5			AAGCGATGATGAT	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.807T>C	6.37:g.41318578T>C		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	42	19	0.452381	NM_004828	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	CCDS4855.1																																																																																			T|0.990;C|0.010	0.010	strong		0.398	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			C	41318578	T	C	41318578	2	2	22	1	0	0	0	0	0	0	0	1	10238	1461	51	2		2	NCR2	6	41318578	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74652	41318578	129796489	3718	8826										
FOXP4	116113	hgsc.bcm.edu	37	chr6	41533579	41533579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcctctctgggcaagcCgatggcagcagcggcggggc	18	13	1	0	rs2104506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41533579C>A	ENST00000307972.4	+	1	93	c.81C>A	c.(79-81)gcC>gcA	p.A27A	FOXP4_ENST00000373063.3_Silent_p.A27A|FOXP4_ENST00000373060.1_Silent_p.A27A|FOXP4_ENST00000373057.3_Silent_p.A27A|FOXP4_ENST00000409208.1_Silent_p.A27A			Q8IVH2	FOXP4_HUMAN	forkhead box P4	27					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTGGGCAAGCCGATGGCAGCA	0.627													C|||	1939	0.387181	0.5106	0.4049	5008	,	,		20199	0.3393		0.3022	False		,,,				2504	0.3446				p.A27A		Atlas-SNP	.											FOXP4_ENST00000373060,NS,carcinoma,0,2	FOXP4	83	2	0			c.C81A						scavenged	.	C	,,	2010,2390		461,1088,651	85	87	86		81,81,81	-7.3	0.1	6	dbSNP_96	86	2306,6278		327,1652,2313	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXP4	NM_001012426.1,NM_001012427.1,NM_138457.2	,,	788,2740,2964	AA,AC,CC		26.8639,45.6818,33.2409	,,	27/681,27/679,27/668	41533579	4316,8668	2200	4292	6492	SO:0001819	synonymous_variant	116113	exon2			GCAAGCCGATGGC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.81C>A	6.37:g.41533579C>A		Somatic	185	2	0.0108108		WXS	Illumina HiSeq	Phase_I	208	115	0.552885	NM_001012427	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	CCDS34447.1																																																																																			C|0.647;A|0.353	0.353	strong		0.627	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		A	41533579	C	A	41533579	2	1	22	1	0	0	0	0	0	0	0	1	6029	639	23	4		4	FOXP4	6	41533579	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	215001	41533579	129581488	3719	8827										
PRICKLE4	29964	hgsc.bcm.edu	37	chr6	41753136	41753136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgggcaggggaacagcGctgctggcaccagccttgct	15	14	0	0	rs35880970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41753136G>A	ENST00000394260.1	+	3	320	c.320G>A	c.(319-321)cGc>cAc	p.R107H	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.R147H|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.R107H|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.R147H|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.R147H|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000463606.1_3'UTR			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	107	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGGAACAGCGCTGCTGGCAC	0.602													G|||	81	0.0161741	0.0537	0.0072	5008	,	,		17211	0.0		0.001	False		,,,				2504	0.0041				p.R147H		Atlas-SNP	.											.	PRICKLE4	29	.	0			c.G440A						PASS	.	G	HIS/ARG	225,4181	134.1+/-170.4	6,213,1984	51	50	50		440	2.9	0.6	6	dbSNP_126	50	17,8583	11.2+/-40.8	0,17,4283	yes	missense	PRICKLE4	NM_013397.5	29	6,230,6267	AA,AG,GG		0.1977,5.1067,1.8607	benign	147/385	41753136	242,12764	2203	4300	6503	SO:0001583	missense	29964	exon6			AACAGCGCTGCTG	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.320G>A	6.37:g.41753136G>A	ENSP00000377803:p.Arg107His	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	79	77	0.974684	NM_013397	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37		32	0.014652014652014652	28	0.056910569105691054	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	1.735	-0.493181	0.04322	0.051067	0.001977	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	4.71	2.91	0.33838	.	0.859014	0.09926	N	0.737859	T	0.63988	0.2558	L	0.35542	1.07	0.09310	N	1	B	0.25169	0.119	B	0.22601	0.04	T	0.55817	-0.8081	10	0.42905	T	0.14	-6.1033	4.9115	0.13823	0.084:0.1478:0.6159:0.1523	rs35880970	147	Q2TBC4-3	.	H	147;147;147;107;107	ENSP00000404911:R147H;ENSP00000352128:R147H;ENSP00000377806:R147H;ENSP00000377802:R107H;ENSP00000377803:R107H	ENSP00000335185:R147H	R	+	2	0	PRICKLE4	41861114	0.024000	0.19004	0.631000	0.29282	0.275000	0.26752	0.519000	0.22862	0.587000	0.29643	-0.258000	0.10820	CGC	G|0.982;A|0.018	0.018	strong		0.602	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		A	41753136	G	A	41753136	3	1	22	1	0	0	0	0	1	0	0	0	12489	1087	38	1	454	1	PRICKLE4	6	41753136	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219557	41753136	129361931	3720	8828										
USP49	25862	hgsc.bcm.edu	37	chr6	41774340	41774340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggagcgcgctgcggcaGgaccacgtcctcacccgaag	14	15	1	1	rs111948785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:41774340G>T	ENST00000394253.3	-	3	711	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	USP49_ENST00000373009.3_Missense_Mutation_p.L128M|USP49_ENST00000297229.2_Missense_Mutation_p.L128M|USP49_ENST00000373006.1_Missense_Mutation_p.L128M|USP49_ENST00000373010.1_Missense_Mutation_p.L128M			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	128					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCTGCGGCAGGACCACGTCC	0.687													G|||	81	0.0161741	0.0537	0.0072	5008	,	,		12628	0.0		0.001	False		,,,				2504	0.0041				p.L128M		Atlas-SNP	.											.	USP49	58	.	0			c.C382A						PASS	.	G	MET/LEU	222,4184		6,210,1987	23	24	23		382	4.6	0.1	6	dbSNP_132	23	14,8582		0,14,4284	yes	missense	USP49	NM_018561.3	15	6,224,6271	TT,TG,GG		0.1629,5.0386,1.8151	benign	128/641	41774340	236,12766	2203	4298	6501	SO:0001583	missense	25862	exon4			GCGGCAGGACCAC	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.382C>A	6.37:g.41774340G>T	ENSP00000377797:p.Leu128Met	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_018561	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	9.151	1.016215	0.19355	0.050386	0.001629	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06933	3.72;3.24;3.72;3.5;3.5	4.6	4.6	0.57074	.	0.851504	0.10514	N	0.665818	T	0.01905	0.0060	N	0.12182	0.205	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.44513	-0.9323	10	0.33940	T	0.23	-1.5488	10.2169	0.43173	0.0:0.0:0.7493:0.2507	.	128	Q70CQ1-2	.	M	128	ENSP00000377797:L128M;ENSP00000362101:L128M;ENSP00000362100:L128M;ENSP00000362097:L128M;ENSP00000297229:L128M	ENSP00000297229:L128M	L	-	1	2	USP49	41882318	0.566000	0.26618	0.076000	0.20297	0.974000	0.67602	2.655000	0.46707	2.376000	0.81061	0.655000	0.94253	CTG	A|0.000;G|0.986;T|0.014	0.014	strong		0.687	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		T	41774340	G	T	41774340	3	4	22	1	0	0	0	0	1	0	0	0	17077	991	35	4	1556	4	USP49	6	41774340	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21204	41774340	129340727	3721	8829										
GUCA1A	2978	hgsc.bcm.edu	37	chr6	42141360	42141360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcctgagcaatgggcaaCgtgatggagggaaagtcagt	16	6	1	2	rs116114043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42141360C>T	ENST00000394237.1	+	3	985	c.9C>T	c.(7-9)aaC>aaT	p.N3N	GUCA1A_ENST00000053469.4_Silent_p.N3N|GUCA1A_ENST00000372958.1_Silent_p.N3N|GUCA1A_ENST00000541991.1_Silent_p.N3N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	3					phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAATGGGCAACGTGATGGAGG	0.607													C|||	20	0.00399361	0.0151	0.0	5008	,	,		20437	0.0		0.0	False		,,,				2504	0.0				p.N3N		Atlas-SNP	.											.	GUCA1A	18	.	0			c.C9T						PASS	.	C		59,4347	56.8+/-93.2	0,59,2144	117	97	104		9	2.2	1	6	dbSNP_132	104	0,8600		0,0,4300	no	coding-synonymous	GUCA1A	NM_000409.3		0,59,6444	TT,TC,CC		0.0,1.3391,0.4536		3/202	42141360	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	2978	exon3			GGGCAACGTGATG		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.9C>T	6.37:g.42141360C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	36	19	0.527778	NM_000409	B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	ENST00000394237.1	37	CCDS4864.1																																																																																			C|0.995;T|0.005	0.005	strong		0.607	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			T	42141360	C	T	42141360	2	4	22	1	0	0	0	0	0	0	0	1	6888	535	19	1		1	GUCA1A	6	42141360	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	367020	42141360	128973707	3722	8830										
MRPS10	55173	hgsc.bcm.edu	37	chr6	42185564	42185564	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggcgccggcacacagcAccgaacgctgtccgcgccgc	13	18	0	1	rs9471809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42185564A>C	ENST00000053468.3	-	1	39	c.24T>G	c.(22-24)ggT>ggG	p.G8G		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	8						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GGCACACAGCACCGAACGCTG	0.607													C|||	1485	0.296526	0.6906	0.2579	5008	,	,		14949	0.1141		0.2038	False		,,,				2504	0.0746				p.G8G		Atlas-SNP	.											.	MRPS10	9	.	0			c.T24G						PASS	.	C		2567,1839		765,1037,401	24	28	27		24	-10.5	0	6	dbSNP_119	27	1825,6775		202,1421,2677	no	coding-synonymous	MRPS10	NM_018141.3		967,2458,3078	CC,CA,AA		21.2209,41.7385,33.769		8/202	42185564	4392,8614	2203	4300	6503	SO:0001819	synonymous_variant	55173	exon1			CACAGCACCGAAC		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.24T>G	6.37:g.42185564A>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_018141	B2RE89|Q9H3E5|Q9NVR3	Silent	SNP	ENST00000053468.3	37	CCDS4866.1																																																																																			A|0.679;C|0.321	0.321	strong		0.607	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			C	42185564	A	C	42185564	2	2	22	1	0	0	0	0	0	0	0	1	9821	146	6	5		5	MRPS10	6	42185564	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44204	42185564	128929503	3723	8831										
TRERF1	55809	hgsc.bcm.edu	37	chr6	42232475	42232475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaggccctcattcccccGtgggaccgcatgtggccatt	14	14	1	0	rs2295274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42232475G>A	ENST00000372922.4	-	7	2164	c.1602C>T	c.(1600-1602)caC>caT	p.H534H	TRERF1_ENST00000354325.2_Silent_p.H534H|TRERF1_ENST00000541110.1_Silent_p.H534H|TRERF1_ENST00000372917.4_Silent_p.H534H|TRERF1_ENST00000340840.2_Silent_p.H534H	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	534	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATTCCCCCGTGGGACCGCA	0.572													G|||	754	0.150559	0.1362	0.1066	5008	,	,		19343	0.122		0.169	False		,,,				2504	0.2117				p.H534H		Atlas-SNP	.											.	TRERF1	124	.	0			c.C1602T						PASS	.	G		677,3729	286.9+/-279.0	49,579,1575	99	87	91		1602	-3.5	0.9	6	dbSNP_100	91	1413,7187	272.3+/-290.0	117,1179,3004	no	coding-synonymous	TRERF1	NM_033502.2		166,1758,4579	AA,AG,GG		16.4302,15.3654,16.0695		534/1201	42232475	2090,10916	2203	4300	6503	SO:0001819	synonymous_variant	55809	exon7			TCCCCCGTGGGAC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1602C>T	6.37:g.42232475G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	111	110	0.990991	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																			G|0.848;A|0.152	0.152	strong		0.572	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		A	42232475	G	A	42232475	2	1	22	1	0	0	0	0	0	0	0	1	16472	1136	40	1		1	TRERF1	6	42232475	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46911	42232475	128882592	3724	8832										
TRERF1	55809	hgsc.bcm.edu	37	chr6	42233529	42233529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggctctcccatcaggtaGgtgcatctaattttgagcca	10	11	3	1	rs79466811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42233529G>A	ENST00000372922.4	-	6	2006	c.1444C>T	c.(1444-1446)Cta>Tta	p.L482L	TRERF1_ENST00000354325.2_Silent_p.L482L|TRERF1_ENST00000541110.1_Silent_p.L482L|TRERF1_ENST00000372917.4_Silent_p.L482L|TRERF1_ENST00000340840.2_Silent_p.L482L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	482	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCAGGTAGGTGCATCTAA	0.502													G|||	84	0.0167732	0.0605	0.0058	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.0				p.L482L		Atlas-SNP	.											.	TRERF1	124	.	0			c.C1444T						PASS	.	G		239,4167	140.8+/-176.2	6,227,1970	56	54	55		1444	1.8	1	6	dbSNP_132	55	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	TRERF1	NM_033502.2		6,230,6267	AA,AG,GG		0.0349,5.4244,1.8607		482/1201	42233529	242,12764	2203	4300	6503	SO:0001819	synonymous_variant	55809	exon6			CAGGTAGGTGCAT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1444C>T	6.37:g.42233529G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	96	42	0.4375	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																			G|0.981;A|0.019	0.019	strong		0.502	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		A	42233529	G	A	42233529	2	1	22	1	0	0	0	0	0	0	0	1	16472	991	35	2		2	TRERF1	6	42233529	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1054	42233529	128881538	3725	8833										
UBR2	23304	hgsc.bcm.edu	37	chr6	42562027	42562027	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgaacttaacacctctgaAattgaggaagaagaggtaaa	9	6	1	5	rs6905054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42562027A>T	ENST00000372899.1	+	4	774	c.516A>T	c.(514-516)gaA>gaT	p.E172D	UBR2_ENST00000372903.2_Missense_Mutation_p.E172D|UBR2_ENST00000372901.1_Missense_Mutation_p.E172D	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	172			E -> D (in dbSNP:rs6905054).		cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACACCTCTGAAATTGAGGAAG	0.363													A|||	166	0.033147	0.1089	0.0072	5008	,	,		17588	0.0099		0.0	False		,,,				2504	0.0072				p.E172D		Atlas-SNP	.											.	UBR2	134	.	0			c.A516T						PASS	.	A	ASP/GLU,ASP/GLU	360,4046	185.0+/-212.2	14,332,1857	113	110	111		516,516	5.2	1	6	dbSNP_116	111	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense	UBR2	NM_001184801.1,NM_015255.2	45,45	14,334,6155	TT,TA,AA		0.0233,8.1707,2.7833	benign,benign	172/440,172/1756	42562027	362,12644	2203	4300	6503	SO:0001583	missense	23304	exon4			CTCTGAAATTGAG	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.516A>T	6.37:g.42562027A>T	ENSP00000361990:p.Glu172Asp	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	66	22	0.333333	NM_001184801	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	58	0.026556776556776556	50	0.1016260162601626	0	0.0	8	0.013986013986013986	0	0.0	A	11.03	1.518060	0.27211	0.081707	2.33E-4	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73152	-0.72;0.27;0.27	5.17	5.17	0.71159	.	0.218116	0.47093	D	0.000242	T	0.34571	0.0902	N	0.22421	0.69	0.09310	P	0.9999999999999195	B;B	0.09022	0.001;0.002	B;B	0.12837	0.001;0.008	T	0.13415	-1.0510	9	0.11485	T	0.65	-28.0504	11.0648	0.47968	0.9248:0.0:0.0752:0.0	rs6905054;rs52816446;rs61683407;rs6905054	172;172	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	D	172	ENSP00000361994:E172D;ENSP00000361990:E172D;ENSP00000361992:E172D	ENSP00000361990:E172D	E	+	3	2	UBR2	42670005	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.373000	0.34272	1.953000	0.56701	0.459000	0.35465	GAA	A|0.966;T|0.034	0.034	strong		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42562027	A	T	42562027	3	4	22	1	0	0	0	0	1	0	0	0	16899	11	1	5	530	5	UBR2	6	42562027	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	328498	42562027	128553040	3726	8834										
UBR2	23304	hgsc.bcm.edu	37	chr6	42571346	42571346	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcctcttgttcatttatcAgaagatgtgatagcaagaac	8	7	3	4	rs16895863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42571346A>T	ENST00000372899.1	+	5	810	c.552A>T	c.(550-552)tcA>tcT	p.S184S	UBR2_ENST00000372903.2_Silent_p.S184S|UBR2_ENST00000372901.1_Silent_p.S184S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	184					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCATTTATCAGAAGATGTGA	0.328													A|||	1006	0.200879	0.2352	0.183	5008	,	,		18936	0.0893		0.2366	False		,,,				2504	0.2454				p.S184S		Atlas-SNP	.											.	UBR2	134	.	0			c.A552T						PASS	.	A	,	1026,3380	375.4+/-321.6	116,794,1293	66	64	65		552,552	3.1	1	6	dbSNP_123	65	1828,6762	326.6+/-317.4	204,1420,2671	no	coding-synonymous,coding-synonymous	UBR2	NM_001184801.1,NM_015255.2	,	320,2214,3964	TT,TA,AA		21.2806,23.2864,21.9606	,	184/440,184/1756	42571346	2854,10142	2203	4295	6498	SO:0001819	synonymous_variant	23304	exon5			TTTATCAGAAGAT	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.552A>T	6.37:g.42571346A>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	20	0.416667	NM_001184801	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																			A|0.793;T|0.207	0.207	strong		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42571346	A	T	42571346	2	4	22	1	0	0	0	0	0	0	0	1	16899	175	7	5		5	UBR2	6	42571346	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9319	42571346	128543721	3727	8835										
PRPH2	5961	hgsc.bcm.edu	37	chr6	42666244	42666244	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcccaattgtaatggtcAcctggtggtgggagaggaga	16	7	1	2	rs140406696		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42666244A>C	ENST00000230381.5	-	3	1069	c.830T>G	c.(829-831)gTg>gGg	p.V277G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	277					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAATGGTCACCTGGTGGTG	0.572													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19706	0.0		0.0	False		,,,				2504	0.0				p.V277G		Atlas-SNP	.											.	PRPH2	47	.	0			c.T830G						PASS	.	A	GLY/VAL	5,4401	9.9+/-24.2	0,5,2198	74	73	73		830	5	0.9	6	dbSNP_134	73	0,8600		0,0,4300	yes	missense-near-splice	PRPH2	NM_000322.4	109	0,5,6498	CC,CA,AA		0.0,0.1135,0.0384	benign	277/347	42666244	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	5961	exon3			ATGGTCACCTGGT		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.829-1T>G	6.37:g.42666244A>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730591	0.48939	0.001135	0.0	ENSG00000112619	ENST00000230381	D	0.81739	-1.53	5.0	5.0	0.66597	.	0.243684	0.40818	N	0.001012	T	0.74261	0.3693	L	0.46157	1.445	0.58432	D	0.999993	P	0.41673	0.759	P	0.46585	0.521	T	0.79167	-0.1915	10	0.66056	D	0.02	.	14.6991	0.69145	1.0:0.0:0.0:0.0	.	277	P23942	PRPH2_HUMAN	G	277	ENSP00000230381:V277G	ENSP00000230381:V277G	V	-	2	0	PRPH2	42774222	0.998000	0.40836	0.926000	0.36857	0.031000	0.12232	4.115000	0.57865	1.858000	0.53909	0.533000	0.62120	GTG	A|1.000;C|0.000	0.000	weak		0.572	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	Missense_Mutation	C	42666244	A	C	42666244	5	2	22	1	0	0	0	0	0	0	1	0	12577	173	6	5	214	5	PRPH2	6	42666244	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94898	42666244	128448823	3728	8836										
PRPH2	5961	hgsc.bcm.edu	37	chr6	42689940	42689940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatcgctcctctttcggaGttcaatcttcaggaacagtc	7	13	4	0	rs61755770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42689940G>A	ENST00000230381.5	-	1	372	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	45			L -> F (in RP7; in combination with a null mutation of ROM1; dbSNP:rs61755770).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTCTTTCGGAGTTCAATCTTC	0.512													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		20575	0.0		0.0	False		,,,				2504	0.0				p.L45F		Atlas-SNP	.											.	PRPH2	47	.	0			c.C133T	GRCh37	CM951114	PRPH2	M	rs61755770	PASS	.	G	PHE/LEU	68,4338	61.7+/-98.7	0,68,2135	109	93	98	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	133	4.7	1	6	dbSNP_129	98	0,8600		0,0,4300	yes	missense	PRPH2	NM_000322.4	22	0,68,6435	AA,AG,GG		0.0,1.5433,0.5228	probably-damaging	45/347	42689940	68,12938	2203	4300	6503	SO:0001583	missense	5961	exon1			TTCGGAGTTCAAT		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.133C>T	6.37:g.42689940G>A	ENSP00000230381:p.Leu45Phe	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	121	68	0.561983	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	20.2	3.948475	0.73787	0.015433	0.0	ENSG00000112619	ENST00000230381	T	0.80393	-1.37	5.61	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.85859	2.78	0.58432	D	0.999991	D	0.60160	0.987	D	0.66497	0.944	D	0.87105	0.2181	10	0.40728	T	0.16	.	15.9296	0.79648	0.0:0.0:0.8645:0.1355	rs61755770	45	P23942	PRPH2_HUMAN	F	45	ENSP00000230381:L45F	ENSP00000230381:L45F	L	-	1	0	PRPH2	42797918	1.000000	0.71417	0.951000	0.38953	0.943000	0.58893	6.097000	0.71452	2.631000	0.89168	0.655000	0.94253	CTC	G|0.994;A|0.006	0.006	strong		0.512	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		A	42689940	G	A	42689940	3	1	22	1	0	0	0	0	1	0	0	0	12577	1029	36	2	919	2	PRPH2	6	42689940	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23696	42689940	128425127	3729	8837										
PTCRA	171558	hgsc.bcm.edu	37	chr6	42891022	42891022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcatcctgggagcctttgGtctgccacactgggcctggg	15	12	1	0	rs9471966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42891022G>A	ENST00000304672.1	+	2	397	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	PTCRA_ENST00000441198.1_Missense_Mutation_p.V81I|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	106			V -> I (in dbSNP:rs9471966). {ECO:0000269|PubMed:15489334}.		negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GGAGCCTTTGGTCTGCCACAC	0.632													G|||	1204	0.240415	0.3994	0.2133	5008	,	,		21832	0.0238		0.2893	False		,,,				2504	0.2178				p.V106I		Atlas-SNP	.											.	PTCRA	24	.	0			c.G316A						PASS	.	G	ILE/VAL	1522,2884	483.3+/-359.7	264,994,945	82	68	73		316	4.8	1	6	dbSNP_119	73	2278,6322	383.5+/-340.8	285,1708,2307	yes	missense	PTCRA	NM_138296.2	29	549,2702,3252	AA,AG,GG		26.4884,34.5438,29.2173	benign	106/282	42891022	3800,9206	2203	4300	6503	SO:0001583	missense	171558	exon2			CCTTTGGTCTGCC	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.316G>A	6.37:g.42891022G>A	ENSP00000304447:p.Val106Ile	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	208	107	0.514423	NM_138296	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	511	0.23397435897435898	201	0.40853658536585363	83	0.2292817679558011	15	0.026223776223776224	212	0.2796833773087071	G	23.0	4.362653	0.82353	0.345438	0.264884	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.54279	0.58;0.58	5.69	4.82	0.62117	Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000670	T	0.46698	0.1406	L	0.36672	1.1	0.09310	P	0.9999999999999986	D;D	0.65815	0.995;0.98	P;P	0.61800	0.894;0.691	T	0.51919	-0.8644	9	0.52906	T	0.07	-35.6978	9.6018	0.39609	0.0925:0.0:0.9075:0.0	rs9471966;rs52795622;rs58242015;rs9471966	81;106	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	I	106;81	ENSP00000304447:V106I;ENSP00000409550:V81I	ENSP00000304447:V106I	V	+	1	0	PTCRA	42999000	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	3.635000	0.54309	2.668000	0.90789	0.650000	0.86243	GTC	G|0.729;A|0.271	0.271	strong		0.632	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		A	42891022	G	A	42891022	3	1	22	1	0	0	0	0	1	0	0	0	12735	1261	44	2	322	2	PTCRA	6	42891022	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201082	42891022	128224045	3730	8838										
PTCRA	171558	hgsc.bcm.edu	37	chr6	42893328	42893328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcccagcacaggcctggTgctcaagatctgccctcagg	11	15	3	1	rs115331994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42893328T>C	ENST00000304672.1	+	4	835	c.754T>C	c.(754-756)Tgc>Cgc	p.C252R	PTCRA_ENST00000441198.1_Missense_Mutation_p.C227R|PTCRA_ENST00000446507.1_Missense_Mutation_p.C145R	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	252					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			ACAGGCCTGGTGCTCAAGATC	0.642													T|||	44	0.00878594	0.0257	0.0	5008	,	,		2807	0.0		0.0	False		,,,				2504	0.0102				p.C267R		Atlas-SNP	.											.	PTCRA	24	.	0			c.T799C						PASS	.	T	ARG/CYS	60,4338		0,60,2139	36	30	32		754	-8.4	0	6	dbSNP_132	32	2,8594		0,2,4296	yes	missense	PTCRA	NM_138296.2	180	0,62,6435	CC,CT,TT		0.0233,1.3643,0.4771	possibly-damaging	252/282	42893328	62,12932	2199	4298	6497	SO:0001583	missense	171558	exon4			GCCTGGTGCTCAA	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.754T>C	6.37:g.42893328T>C	ENSP00000304447:p.Cys252Arg	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	85	50	0.588235	NM_001243168	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	T	12.26	1.885331	0.33255	0.013643	2.33E-4	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507;ENST00000418903	T;T;T	0.55413	1.23;1.19;0.52	4.17	-8.35	0.00984	.	2.132630	0.02556	N	0.096213	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.23806	0.091;0.005;0.005	B;B;B	0.22152	0.038;0.008;0.003	T	0.03166	-1.1065	10	0.72032	D	0.01	.	1.2025	0.01888	0.3397:0.3089:0.1915:0.1599	.	145;227;252	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	R	252;227;145;98	ENSP00000304447:C252R;ENSP00000409550:C227R;ENSP00000392288:C145R	ENSP00000304447:C252R	C	+	1	0	PTCRA	43001306	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.585000	0.00212	-3.458000	0.00159	0.533000	0.62120	TGC	T|0.994;C|0.006	0.006	strong		0.642	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		C	42893328	T	C	42893328	3	2	22	1	0	0	0	0	1	0	0	0	12735	1696	59	2	768	2	PTCRA	6	42893328	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2306	42893328	128221739	3731	8839										
GNMT	27232	hgsc.bcm.edu	37	chr6	42930877	42930877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgggcagggggcctactGgtcattgatcatcgcaacta	14	10	2	1	rs147291064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42930877G>A	ENST00000372808.3	+	4	529	c.519G>A	c.(517-519)ctG>ctA	p.L173L		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	173					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GGGGCCTACTGGTCATTGATC	0.602													G|||	47	0.00938498	0.034	0.0029	5008	,	,		11061	0.0		0.0	False		,,,				2504	0.0				p.L173L		Atlas-SNP	.											.	GNMT	13	.	0			c.G519A						PASS	.	G		88,4318	74.7+/-112.8	0,88,2115	42	40	41		519	3.9	1	6	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GNMT	NM_018960.4		0,91,6412	AA,AG,GG		0.0349,1.9973,0.6997		173/296	42930877	91,12915	2203	4300	6503	SO:0001819	synonymous_variant	27232	exon4			CCTACTGGTCATT	AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.519G>A	6.37:g.42930877G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_018960	Q5T8W2|Q9NNZ1|Q9NS24	Silent	SNP	ENST00000372808.3	37	CCDS4876.1																																																																																			G|0.993;A|0.007	0.007	strong		0.602	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1	NM_018960		A	42930877	G	A	42930877	2	1	22	1	0	0	0	0	0	0	0	1	6540	1335	47	2		2	GNMT	6	42930877	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37549	42930877	128184190	3732	8840										
PEX6	5190	hgsc.bcm.edu	37	chr6	42932080	42932080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggggggctcctagcagGcagcaaacttgcgctggatg	15	12	0	0	rs115180949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:42932080G>A	ENST00000304611.8	-	17	3005	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	979					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCCTAGCAGGCAGCAAACTT	0.637													G|||	47	0.00938498	0.034	0.0029	5008	,	,		17507	0.0		0.0	False		,,,				2504	0.0				p.A979V		Atlas-SNP	.											.	PEX6	44	.	0			c.C2936T						PASS	.	G	VAL/ALA	85,4321		0,85,2118	36	38	37		2936	5	1	6	dbSNP_132	37	3,8595		0,3,4296	yes	missense	PEX6	NM_000287.3	64	0,88,6414	AA,AG,GG		0.0349,1.9292,0.6767	possibly-damaging	979/981	42932080	88,12916	2203	4299	6502	SO:0001583	missense	5190	exon17			TAGCAGGCAGCAA	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2936C>T	6.37:g.42932080G>A	ENSP00000303511:p.Ala979Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	98	45	0.459184	NM_000287	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.602210	0.96614	0.019292	3.49E-4	ENSG00000124587	ENST00000304611	D	0.95377	-3.69	5.9	5.03	0.67393	.	0.307721	0.39985	N	0.001217	D	0.93119	0.7809	L	0.33485	1.01	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	D	0.93230	0.6616	10	0.52906	T	0.07	-12.279	15.0391	0.71774	0.0698:0.0:0.9302:0.0	.	979	Q13608	PEX6_HUMAN	V	979	ENSP00000303511:A979V	ENSP00000303511:A979V	A	-	2	0	PEX6	43040058	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.035000	0.64158	2.803000	0.96430	0.609000	0.83330	GCC	G|0.993;A|0.007	0.007	strong		0.637	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42932080	G	A	42932080	3	1	22	1	0	0	0	0	1	0	0	0	11750	1203	42	2	10	2	PEX6	6	42932080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1203	42932080	128182987	3733	8841										
PTK7	5754	hgsc.bcm.edu	37	chr6	43109751	43109751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagtgcgaggcccagggGgaccccaagccgctgattca	14	14	1	1	rs6905948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43109751G>A	ENST00000230419.4	+	12	2072	c.1851G>A	c.(1849-1851)ggG>ggA	p.G617G	PTK7_ENST00000481273.1_Silent_p.G625G|PTK7_ENST00000349241.2_Silent_p.G487G|PTK7_ENST00000352931.2_Silent_p.G617G|PTK7_ENST00000345201.2_Silent_p.G577G	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	617	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCCCAGGGGGACCCCAAGC	0.597													G|||	1693	0.338059	0.4781	0.4179	5008	,	,		17142	0.0972		0.3887	False		,,,				2504	0.2883				p.G625G		Atlas-SNP	.											PTK7,NS,carcinoma,+2,1	PTK7	101	1	0			c.G1875A						PASS	.	G	,,,	1975,2431	547.8+/-377.4	451,1073,679	54	58	57		1851,1731,1461,1851	-8.6	1	6	dbSNP_116	57	3262,5338	481.8+/-370.7	596,2070,1634	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	,,,	1047,3143,2313	AA,AG,GG		37.9302,44.8252,40.266	,,,	617/1071,577/1031,487/941,617/1015	43109751	5237,7769	2203	4300	6503	SO:0001819	synonymous_variant	5754	exon12			CCAGGGGGACCCC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1851G>A	6.37:g.43109751G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	60	31	0.516667	NM_001270398	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	CCDS4884.1																																																																																			G|0.619;A|0.381	0.381	strong		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			A	43109751	G	A	43109751	2	1	22	1	0	0	0	0	0	0	0	1	12765	1219	43	2		2	PTK7	6	43109751	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	177671	43109751	128005316	3734	8842										
SRF	6722	hgsc.bcm.edu	37	chr6	43146105	43146105	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgatgtaccctagcccGcatgcggtgatgtatgcccc	10	14	0	2	rs140883192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43146105G>T	ENST00000265354.4	+	5	1594	c.1236G>T	c.(1234-1236)ccG>ccT	p.P412P	SRF_ENST00000457278.2_Silent_p.P208P	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	412					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCCTAGCCCGCATGCGGTGA	0.607													G|||	31	0.0061901	0.0219	0.0014	5008	,	,		20467	0.0		0.001	False		,,,				2504	0.0				p.P412P		Atlas-SNP	.											.	SRF	24	.	0			c.G1236T						PASS	.	G		57,4349	55.5+/-91.7	0,57,2146	102	75	84		1236	4.7	1	6	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	SRF	NM_003131.2		0,57,6446	TT,TG,GG		0.0,1.2937,0.4383		412/509	43146105	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	6722	exon5			TAGCCCGCATGCG	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1236G>T	6.37:g.43146105G>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	63	28	0.444444	NM_003131	Q5T648	Silent	SNP	ENST00000265354.4	37	CCDS4889.1																																																																																			G|0.997;T|0.003	0.003	strong		0.607	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		T	43146105	G	T	43146105	2	4	22	1	0	0	0	0	0	0	0	1	15142	1074	38	4		4	SRF	6	43146105	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36354	43146105	127968962	3735	8843										
CUL9	23113	hgsc.bcm.edu	37	chr6	43152366	43152366	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcctcgagatccaggaggCctggatgaagtggcaatggg	15	8	0	2	rs41274928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43152366C>A	ENST00000252050.4	+	2	402	c.318C>A	c.(316-318)ggC>ggA	p.G106G	CUL9_ENST00000372647.2_Silent_p.G106G|CUL9_ENST00000354495.3_Silent_p.G106G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	106					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATCCAGGAGGCCTGGATGAAG	0.607													C|||	248	0.0495208	0.1112	0.0288	5008	,	,		20915	0.003		0.0288	False		,,,				2504	0.0501				p.G106G		Atlas-SNP	.											.	CUL9	248	.	0			c.C318A						PASS	.	C		459,3947	217.1+/-235.6	32,395,1776	89	96	94		318	0.7	1	6	dbSNP_127	94	267,8333	101.9+/-163.1	2,263,4035	no	coding-synonymous	CUL9	NM_015089.2		34,658,5811	AA,AC,CC		3.1047,10.4176,5.582		106/2518	43152366	726,12280	2203	4300	6503	SO:0001819	synonymous_variant	23113	exon2			AGGAGGCCTGGAT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.318C>A	6.37:g.43152366C>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	184	95	0.516304	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																			C|0.948;A|0.052	0.052	strong		0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43152366	C	A	43152366	2	1	22	1	0	0	0	0	0	0	0	1	4061	726	26	4		4	CUL9	6	43152366	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6261	43152366	127962701	3736	8844										
CUL9	23113	hgsc.bcm.edu	37	chr6	43154064	43154064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaattctccagccgtagtggCtatggagaatatgtgcagca	12	8	1	1	rs79828871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43154064C>T	ENST00000252050.4	+	4	1206	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	CUL9_ENST00000354495.3_Silent_p.G374G|CUL9_ENST00000372647.2_Silent_p.G374G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	374					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCGTAGTGGCTATGGAGAAT	0.577													C|||	187	0.0373403	0.1331	0.0144	5008	,	,		19600	0.0		0.001	False		,,,				2504	0.0				p.G374G		Atlas-SNP	.											.	CUL9	248	.	0			c.C1122T						PASS	.	C		441,3965	212.8+/-232.6	12,417,1774	74	73	73		1122	3.7	1	6	dbSNP_131	73	0,8600		0,0,4300	no	coding-synonymous	CUL9	NM_015089.2		12,417,6074	TT,TC,CC		0.0,10.0091,3.3907		374/2518	43154064	441,12565	2203	4300	6503	SO:0001819	synonymous_variant	23113	exon4			TAGTGGCTATGGA	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1122C>T	6.37:g.43154064C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	140	58	0.414286	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																			C|0.967;T|0.033	0.033	strong		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43154064	C	T	43154064	2	4	22	1	0	0	0	0	0	0	0	1	4061	784	28	2		2	CUL9	6	43154064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1698	43154064	127961003	3737	8845										
CUL9	23113	hgsc.bcm.edu	37	chr6	43188940	43188940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catatgtctcagtgggtcgaCgacggtggctactatgacgg	14	9	1	1	rs6917902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43188940C>T	ENST00000252050.4	+	34	6717	c.6633C>T	c.(6631-6633)gaC>gaT	p.D2211D	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.D2101D|CUL9_ENST00000372647.2_Silent_p.D2183D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2211					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGTGGGTCGACGACGGTGGCT	0.617													T|||	1038	0.207268	0.4947	0.1686	5008	,	,		19497	0.0179		0.1342	False		,,,				2504	0.1166				p.D2211D		Atlas-SNP	.											.	CUL9	248	.	0			c.C6633T						PASS	.	T		2014,2392	613.0+/-392.1	464,1086,653	110	76	87		6633	-7.4	0	6	dbSNP_116	87	1463,7137	750.1+/-407.4	108,1247,2945	no	coding-synonymous	CUL9	NM_015089.2		572,2333,3598	TT,TC,CC		17.0116,45.7104,26.7338		2211/2518	43188940	3477,9529	2203	4300	6503	SO:0001819	synonymous_variant	23113	exon34			GGTCGACGACGGT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6633C>T	6.37:g.43188940C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	142	69	0.485915	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																			C|0.767;T|0.233	0.233	strong		0.617	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43188940	C	T	43188940	2	4	22	1	0	0	0	0	0	0	0	1	4061	535	19	1		1	CUL9	6	43188940	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34876	43188940	127926127	3738	8846										
TTBK1	84630	hgsc.bcm.edu	37	chr6	43251608	43251608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccaccatctcccccagaCgccatgctatgccaggctct	8	18	2	1	rs146633224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43251608C>T	ENST00000259750.4	+	14	3213	c.3130C>T	c.(3130-3132)Cgc>Tgc	p.R1044C		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1044					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCCCAGACGCCATGCTAT	0.662													C|||	16	0.00319489	0.0098	0.0043	5008	,	,		14735	0.0		0.0	False		,,,				2504	0.0				p.R1044C		Atlas-SNP	.											.	TTBK1	124	.	0			c.C3130T						PASS	.	C	CYS/ARG	39,4331		0,39,2146	31	29	30		3130	4	0.6	6	dbSNP_134	30	8,8470		0,8,4231	yes	missense	TTBK1	NM_032538.1	180	0,47,6377	TT,TC,CC		0.0944,0.8924,0.3658	possibly-damaging	1044/1322	43251608	47,12801	2185	4239	6424	SO:0001583	missense	84630	exon14			CCCAGACGCCATG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3130C>T	6.37:g.43251608C>T	ENSP00000259750:p.Arg1044Cys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	6	0.0027472527472527475	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	9.159	1.018106	0.19355	0.008924	9.44E-4	ENSG00000146216	ENST00000259750	T	0.54279	0.58	4.84	3.96	0.45880	.	1.368680	0.04907	N	0.452377	T	0.29914	0.0748	L	0.52573	1.65	0.21740	N	0.99957	B	0.06786	0.001	B	0.04013	0.001	T	0.37407	-0.9707	10	0.87932	D	0	.	8.0444	0.30540	0.0:0.7512:0.1604:0.0883	.	1044	Q5TCY1	TTBK1_HUMAN	C	1044	ENSP00000259750:R1044C	ENSP00000259750:R1044C	R	+	1	0	TTBK1	43359586	0.000000	0.05858	0.580000	0.28601	0.346000	0.29079	0.210000	0.17455	1.155000	0.42497	0.462000	0.41574	CGC	C|0.997;T|0.003	0.003	strong		0.662	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43251608	C	T	43251608	3	4	22	1	0	0	0	0	1	0	0	0	16673	536	19	1	3180	1	TTBK1	6	43251608	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62668	43251608	127863459	3739	8847										
TTBK1	84630	hgsc.bcm.edu	37	chr6	43252029	43252029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatggcgcggccccagcatTggacacagccatcaccagca	10	17	1	0	rs3800298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43252029T>C	ENST00000259750.4	+	14	3634	c.3551T>C	c.(3550-3552)tTg>tCg	p.L1184S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1184			L -> S (in dbSNP:rs3800298). {ECO:0000269|PubMed:17344846}.		substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCCCCAGCATTGGACACAGCC	0.682													C|||	1827	0.364816	0.5628	0.2378	5008	,	,		16925	0.3849		0.2515	False		,,,				2504	0.2832				p.L1184S		Atlas-SNP	.											TTBK1,NS,carcinoma,0,1	TTBK1	124	1	0			c.T3551C						PASS	.	C	SER/LEU	1274,1956		249,776,590	12	14	13		3551	4.8	0.2	6	dbSNP_107	13	1385,5175		125,1135,2020	yes	missense	TTBK1	NM_032538.1	145	374,1911,2610	CC,CT,TT		21.1128,39.4427,27.1604	benign	1184/1322	43252029	2659,7131	1615	3280	4895	SO:0001583	missense	84630	exon14			CAGCATTGGACAC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3551T>C	6.37:g.43252029T>C	ENSP00000259750:p.Leu1184Ser	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	26	14	0.538462	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	773	0.35393772893772896	282	0.573170731707317	94	0.2596685082872928	207	0.3618881118881119	190	0.25065963060686014	C	0.003	-2.531159	0.00145	0.394427	0.211128	ENSG00000146216	ENST00000259750	T	0.51574	0.7	4.77	4.77	0.60923	.	0.586807	0.15128	N	0.278991	T	0.04724	0.0128	N	0.00621	-1.32	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.08381	T	0.77	.	7.4137	0.27032	0.0:0.808:0.0:0.192	rs3800298;rs58957853;rs3800298	1184	Q5TCY1	TTBK1_HUMAN	S	1184	ENSP00000259750:L1184S	ENSP00000259750:L1184S	L	+	2	0	TTBK1	43360007	0.001000	0.12720	0.242000	0.24170	0.258000	0.26162	1.185000	0.32065	1.258000	0.44101	-0.215000	0.12644	TTG	T|0.667;C|0.333	0.333	strong		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			C	43252029	T	C	43252029	3	2	22	1	0	0	0	0	1	0	0	0	16673	1821	63	2	3601	2	TTBK1	6	43252029	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	421	43252029	127863038	3740	8848										
SLC22A7	10864	hgsc.bcm.edu	37	chr6	43270151	43270151	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actagactgctagtgtcctcCggtgagcccagtcccatagg	11	13	0	2	rs2270860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43270151C>T	ENST00000372585.5	+	8	1370	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	SLC22A7_ENST00000372589.3_Splice_Site_p.S423S|SLC22A7_ENST00000372574.3_Splice_Site_p.S423S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	425					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TAGTGTCCTCCGGTGAGCCCA	0.667													C|||	2319	0.463059	0.7156	0.3804	5008	,	,		16841	0.369		0.3439	False		,,,				2504	0.3998				p.S425S		Atlas-SNP	.											.	SLC22A7	69	.	0			c.C1275T						PASS	.	C	,	2894,1510		964,966,272	26	25	25		1269,1275	-10.5	0	6	dbSNP_100	25	2676,5918		395,1886,2016	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	SLC22A7	NM_006672.3,NM_153320.2	,	1359,2852,2288	TT,TC,CC		31.138,34.287,42.8527	,	423/547,425/549	43270151	5570,7428	2202	4297	6499	SO:0001630	splice_region_variant	10864	exon7			GTCCTCCGGTGAG	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1276+1C>T	6.37:g.43270151C>T		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	34	34	1	NM_153320	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	CCDS4893.2																																																																																			C|0.562;T|0.436	0.436	strong		0.667	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		Silent	T	43270151	C	T	43270151	5	4	22	1	0	0	0	0	0	0	1	0	14459	666	23	1	1301	1	SLC22A7	6	43270151	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18122	43270151	127844916	3741	8849										
ZNF318	24149	hgsc.bcm.edu	37	chr6	43307861	43307861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctttagagatacttgggGtcaccaatgaacttttctcc	7	10	3	2	rs10948072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43307861G>A	ENST00000361428.2	-	10	3952	c.3875C>T	c.(3874-3876)aCc>aTc	p.T1292I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1292	Lys-rich.		T -> I (in dbSNP:rs10948072).		meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATACTTGGGGTCACCAATGA	0.393													G|||	764	0.152556	0.3041	0.1888	5008	,	,		20470	0.0446		0.1093	False		,,,				2504	0.0777				p.T1292I		Atlas-SNP	.											.	ZNF318	175	.	0			c.C3875T						PASS	.	G	ILE/THR	1282,3124	436.4+/-344.6	191,900,1112	186	191	189		3875	0.9	0	6	dbSNP_120	189	854,7746	194.7+/-240.0	37,780,3483	yes	missense	ZNF318	NM_014345.2	89	228,1680,4595	AA,AG,GG		9.9302,29.0967,16.4232	benign	1292/2280	43307861	2136,10870	2203	4300	6503	SO:0001583	missense	24149	exon10			CTTGGGGTCACCA	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3875C>T	6.37:g.43307861G>A	ENSP00000354964:p.Thr1292Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	101	100	0.990099	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	311	0.1423992673992674	132	0.2682926829268293	69	0.19060773480662985	26	0.045454545454545456	84	0.11081794195250659	G	0.768	-0.766795	0.02974	0.290967	0.099302	ENSG00000171467	ENST00000361428	T	0.44881	0.91	5.69	0.91	0.19337	.	0.809119	0.10709	N	0.643131	T	0.08582	0.0213	N	0.14661	0.345	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.23655	-1.0182	9	0.40728	T	0.16	3.6527	4.7197	0.12912	0.3861:0.0:0.4759:0.138	rs10948072;rs52834978;rs60042958;rs10948072	1292	Q5VUA4	ZN318_HUMAN	I	1292	ENSP00000354964:T1292I	ENSP00000354964:T1292I	T	-	2	0	ZNF318	43415839	0.000000	0.05858	0.001000	0.08648	0.261000	0.26267	0.098000	0.15189	-0.118000	0.11851	0.655000	0.94253	ACC	G|0.847;A|0.153	0.153	strong		0.393	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43307861	G	A	43307861	3	1	22	1	0	0	0	0	1	0	0	0	17833	1261	44	2	2968	2	ZNF318	6	43307861	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37710	43307861	127807206	3742	8850										
ABCC10	89845	hgsc.bcm.edu	37	chr6	43411700	43411700	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagattctgccactggtaCaagctgtccccaaagcctgg	10	13	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43411700C>T	ENST00000372530.4	+	11	2661	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	ABCC10_ENST00000244533.3_Nonsense_Mutation_p.Q788*	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	816	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCCACTGGTACAAGCTGTCCC	0.542																																					p.Q816X		Atlas-SNP	.											.	ABCC10	118	.	0			c.C2446T						PASS	.						150	145	147					6																	43411700		2203	4300	6503	SO:0001587	stop_gained	89845	exon11			CTGGTACAAGCTG	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2446C>T	6.37:g.43411700C>T	ENSP00000361608:p.Gln816*	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Nonsense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	42	9.524227	0.99195	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	.	.	.	5.67	5.67	0.87782	.	0.128063	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-28.5185	13.6285	0.62181	0.0:0.7989:0.2011:0.0	.	.	.	.	X	816;788	.	ENSP00000244533:Q788X	Q	+	1	0	ABCC10	43519678	0.921000	0.31238	0.981000	0.43875	0.798000	0.45092	3.288000	0.51739	2.673000	0.90976	0.655000	0.94253	CAA	.	.	none		0.542	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43411700	C	T	43411700	4	4	22	1	0	0	0	0	0	1	0	0	50	479	17	2	2396	2	ABCC10	6	43411700	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103839	43411700	127703367	3743	8851										
ABCC10	89845	hgsc.bcm.edu	37	chr6	43412935	43412935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtttctacctcaccgtgtaTgcgaccattgctggtgtaaa	9	11	2	0	rs2125740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43412935T>C	ENST00000372530.4	+	14	3128	c.2913T>C	c.(2911-2913)taT>taC	p.Y971Y	ABCC10_ENST00000244533.3_Silent_p.Y943Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	971	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCACCGTGTATGCGACCATTG	0.602													T|||	271	0.0541134	0.1974	0.0115	5008	,	,		17679	0.0		0.002	False		,,,				2504	0.0				p.Y971Y		Atlas-SNP	.											.	ABCC10	118	.	0			c.T2913C						PASS	.	T	,	845,3561	334.7+/-303.5	72,701,1430	132	102	112		2913,2829	-6	0.3	6	dbSNP_96	112	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	72,706,5725	CC,CT,TT		0.0581,19.1784,6.5354	,	971/1493,943/1465	43412935	850,12156	2203	4300	6503	SO:0001819	synonymous_variant	89845	exon14			CGTGTATGCGACC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2913T>C	6.37:g.43412935T>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	234	103	0.440171	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																			T|0.940;C|0.060	0.060	strong		0.602	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		C	43412935	T	C	43412935	2	2	22	1	0	0	0	0	0	0	0	1	50	1471	51	2		2	ABCC10	6	43412935	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1235	43412935	127702132	3744	8852										
ABCC10	89845	hgsc.bcm.edu	37	chr6	43413669	43413669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgctccgggccacaggGgccacctacaggtgtgtgaa	14	12	1	1	rs112977568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43413669G>A	ENST00000372530.4	+	15	3578	c.3363G>A	c.(3361-3363)ggG>ggA	p.G1121G	ABCC10_ENST00000244533.3_Silent_p.G1093G	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1121	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGGCCACAGGGGCCACCTACA	0.622													G|||	37	0.00738818	0.0272	0.0	5008	,	,		18669	0.0		0.001	False		,,,				2504	0.0				p.G1121G		Atlas-SNP	.											.	ABCC10	118	.	0			c.G3363A						PASS	.	G	,	106,4248		1,104,2072	21	23	22		3363,3279	3.4	1	6	dbSNP_132	22	0,8536		0,0,4268	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	1,104,6340	AA,AG,GG		0.0,2.4345,0.8223	,	1121/1493,1093/1465	43413669	106,12784	2177	4268	6445	SO:0001819	synonymous_variant	89845	exon15			CACAGGGGCCACC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3363G>A	6.37:g.43413669G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																			G|0.992;A|0.008	0.008	strong		0.622	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43413669	G	A	43413669	2	1	22	1	0	0	0	0	0	0	0	1	50	1219	43	2		2	ABCC10	6	43413669	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	734	43413669	127701398	3745	8853										
DLK2	65989	hgsc.bcm.edu	37	chr6	43418691	43418691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggtaagacaagctcacaGgtcttgccaccatagccact	8	13	2	1	rs1214748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43418691G>A	ENST00000357338.3	-	6	1438	c.738C>T	c.(736-738)acC>acT	p.T246T	DLK2_ENST00000372488.3_Silent_p.T246T|DLK2_ENST00000372485.1_Silent_p.T240T|DLK2_ENST00000414245.1_Silent_p.T240T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	246	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAAGCTCACAGGTCTTGCCAC	0.657													A|||	1397	0.278954	0.5424	0.2147	5008	,	,		17896	0.0804		0.2863	False		,,,				2504	0.1656				p.T246T		Atlas-SNP	.											.	DLK2	22	.	0			c.C738T						PASS	.	A	,	2210,2196	571.7+/-383.1	559,1092,552	57	62	60		738,738	-2.5	1	6	dbSNP_87	60	2673,5927	671.5+/-402.8	426,1821,2053	no	coding-synonymous,coding-synonymous	DLK2	NM_023932.2,NM_206539.1	,	985,2913,2605	AA,AG,GG		31.0814,49.8411,37.5442	,	246/384,246/384	43418691	4883,8123	2203	4300	6503	SO:0001819	synonymous_variant	65989	exon6			CTCACAGGTCTTG	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.738C>T	6.37:g.43418691G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Silent	SNP	ENST00000357338.3	37	CCDS4897.1	577	0.2641941391941392	247	0.5020325203252033	81	0.22375690607734808	41	0.07167832167832168	208	0.27440633245382584	A	7.951	0.744851	0.15710	0.501589	0.310814	ENSG00000171462	ENST00000430324	.	.	.	4.94	-2.45	0.06481	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.27434	-1.0074	3	.	.	.	.	4.7667	0.13135	0.2858:0.1157:0.4846:0.1138	rs1214748;rs1674840;rs58292939;rs1214748	.	.	.	L	152	.	.	P	-	2	0	DLK2	43526669	0.115000	0.22152	0.995000	0.50966	0.918000	0.54935	-0.388000	0.07352	-0.280000	0.09154	-0.521000	0.04368	CCT	A|0.330;C|0.006	0.330	strong		0.657	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		A	43418691	G	A	43418691	2	1	22	1	0	0	0	0	0	0	0	1	4565	987	35	2		2	DLK2	6	43418691	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5022	43418691	127696376	3746	8854										
DLK2	65989	hgsc.bcm.edu	37	chr6	43418733	43418733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagaggcagtcgaagtcGtggacacggtcccgacagcg	17	11	0	1	rs1214749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43418733G>A	ENST00000357338.3	-	6	1396	c.696C>T	c.(694-696)caC>caT	p.H232H	DLK2_ENST00000372488.3_Silent_p.H232H|DLK2_ENST00000414245.1_Silent_p.H226H|DLK2_ENST00000372485.1_Silent_p.H226H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	232	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTCGAAGTCGTGGACACGGT	0.627													A|||	1397	0.278954	0.5424	0.2147	5008	,	,		18721	0.0804		0.2863	False		,,,				2504	0.1656				p.H232H		Atlas-SNP	.											.	DLK2	22	.	0			c.C696T						PASS	.	A	,	2216,2190	577.0+/-384.4	559,1098,546	60	64	62		696,696	-5.8	0.8	6	dbSNP_87	62	2675,5925	675.2+/-403.2	424,1827,2049	no	coding-synonymous,coding-synonymous	DLK2	NM_023932.2,NM_206539.1	,	983,2925,2595	AA,AG,GG		31.1047,49.7049,37.6057	,	232/384,232/384	43418733	4891,8115	2203	4300	6503	SO:0001819	synonymous_variant	65989	exon6			GAAGTCGTGGACA	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.696C>T	6.37:g.43418733G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Silent	SNP	ENST00000357338.3	37	CCDS4897.1	577	0.2641941391941392	247	0.5020325203252033	81	0.22375690607734808	41	0.07167832167832168	208	0.27440633245382584	A	4.262	0.047770	0.08243	0.502951	0.311047	ENSG00000171462	ENST00000430324	.	.	.	4.94	-5.77	0.02369	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	P	0.9999999602075	.	.	.	.	.	.	T	0.18808	-1.0325	3	.	.	.	.	9.4542	0.38745	0.2896:0.2188:0.4916:0.0	rs1214749;rs1674841;rs1214749	.	.	.	M	138	.	.	T	-	2	0	DLK2	43526711	0.338000	0.24775	0.835000	0.33067	0.653000	0.38743	-0.286000	0.08399	-1.278000	0.02408	-1.390000	0.01156	ACG	G|0.662;A|0.338	0.338	strong		0.627	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		A	43418733	G	A	43418733	2	1	22	1	0	0	0	0	0	0	0	1	4565	1136	40	1		1	DLK2	6	43418733	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42	43418733	127696334	3747	8855										
C6orf154	221424	hgsc.bcm.edu	37	chr6	43475195	43475195	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaccctctgggttcttaccGctggggcacatccaggagct	11	14	2	0	rs61746927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43475195G>A	ENST00000372441.1	-	5	1779	c.879C>T	c.(877-879)agC>agT	p.S293S		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	293																	GGTTCTTACCGCTGGGGCACA	0.632													G|||	74	0.0147764	0.0469	0.0144	5008	,	,		18063	0.0		0.002	False		,,,				2504	0.0				p.S293S		Atlas-SNP	.											.	.	.	.	0			c.C879T						PASS	.	G		237,4169	134.9+/-171.1	9,219,1975	33	38	36		879	-1.7	0.9	6	dbSNP_129	36	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous-near-splice	C6orf154	NM_001012974.1		9,223,6271	AA,AG,GG		0.0465,5.379,1.853		293/317	43475195	241,12765	2203	4300	6503	SO:0001630	splice_region_variant	221424	exon5			CTTACCGCTGGGG		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.880+1C>T	6.37:g.43475195G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	52	25	0.480769	NM_001012974		Silent	SNP	ENST00000372441.1	37	CCDS34456.1																																																																																			G|0.980;A|0.020	0.020	strong		0.632	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974	Silent	A	43475195	G	A	43475195	5	1	22	1	0	0	0	0	0	0	1	0	2339	1101	38	1	79	1	C6orf154	6	43475195	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56462	43475195	127639872	3748	8856										
XPO5	57510	hgsc.bcm.edu	37	chr6	43496662	43496662	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagaggctttacaaagacAcgtgctgcaacaagttaaga	9	9	0	3	rs1106841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43496662A>C	ENST00000265351.7	-	24	2889	c.2679T>G	c.(2677-2679)cgT>cgG	p.R893R	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	893					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)			TTACAAAGACACGTGCTGCAA	0.502													C|||	1956	0.390575	0.6354	0.4222	5008	,	,		17759	0.0565		0.3917	False		,,,				2504	0.3804				p.R893R		Atlas-SNP	.											XPO5,colon,carcinoma,0,2	XPO5	79	2	0			c.T2679G						PASS	.	C		2283,1575		693,897,339	41	44	43		2679	1.9	1	6	dbSNP_86	43	3187,5077		606,1975,1551	yes	coding-synonymous-near-splice	XPO5	NM_020750.2		1299,2872,1890	CC,CA,AA		38.5649,40.8243,45.1246		893/1205	43496662	5470,6652	1929	4132	6061	SO:0001630	splice_region_variant	57510	exon24			AAAGACACGTGCT	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.2678-1T>G	6.37:g.43496662A>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																			A|0.635;C|0.365	0.365	strong		0.502	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	Silent	C	43496662	A	C	43496662	5	2	22	1	0	0	0	0	0	0	1	0	17444	173	6	5	971	5	XPO5	6	43496662	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21467	43496662	127618405	3749	8857										
POLH	5429	hgsc.bcm.edu	37	chr6	43581586	43581586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccactaagaaagcaaccacGtctctggaatcattcttcca	6	13	3	1	rs3734690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43581586G>A	ENST00000372236.4	+	11	1729	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Silent_p.T416T	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGCAACCACGTCTCTGGAAT	0.502								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				G|||	351	0.0700879	0.1354	0.0303	5008	,	,		18346	0.0298		0.0338	False		,,,				2504	0.089				p.T478T		Atlas-SNP	.											POLH,NS,carcinoma,+1,1	POLH	54	1	0			c.G1434A						PASS	.	G		462,3944	217.1+/-235.6	34,394,1775	52	55	54		1434	-1.4	0	6	dbSNP_107	54	262,8338	101.2+/-162.5	3,256,4041	no	coding-synonymous	POLH	NM_006502.2		37,650,5816	AA,AG,GG		3.0465,10.4857,5.5667		478/714	43581586	724,12282	2203	4300	6503	SO:0001819	synonymous_variant	5429	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AACCACGTCTCTG	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1434G>A	6.37:g.43581586G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	106	46	0.433962	NM_006502	O95160|Q6VMB5	Silent	SNP	ENST00000372236.4	37	CCDS4902.1																																																																																			G|0.939;A|0.061	0.061	strong		0.502	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		A	43581586	G	A	43581586	2	1	22	1	0	0	0	0	0	0	0	1	12202	1132	40	1		1	POLH	6	43581586	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84924	43581586	127533481	3750	8858										
POLH	5429	hgsc.bcm.edu	37	chr6	43582091	43582091	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggtaccggtatgggatAtgccagaacacatggactat	11	10	0	1	rs6941583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43582091A>T	ENST00000372236.4	+	11	2234	c.1939A>T	c.(1939-1941)Atg>Ttg	p.M647L	POLH_ENST00000535400.1_Missense_Mutation_p.M585L|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGTATGGGATATGCCAGAACA	0.502								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				A|||	645	0.128794	0.3487	0.0476	5008	,	,		18344	0.0308		0.0358	False		,,,				2504	0.0859				p.M647L		Atlas-SNP	.											.	POLH	54	.	0			c.A1939T						PASS	.	A	LEU/MET	1343,3063	447.5+/-348.4	213,917,1073	151	156	155		1939	5.7	1	6	dbSNP_116	155	265,8335	101.9+/-163.1	3,259,4038	yes	missense	POLH	NM_006502.2	15	216,1176,5111	TT,TA,AA		3.0814,30.4812,12.3635	benign	647/714	43582091	1608,11398	2203	4300	6503	SO:0001583	missense	5429	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TGGGATATGCCAG	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1939A>T	6.37:g.43582091A>T	ENSP00000361310:p.Met647Leu	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	187	77	0.411765	NM_006502	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	246	0.11263736263736264	182	0.3699186991869919	14	0.03867403314917127	26	0.045454545454545456	24	0.0316622691292876	A	9.080	0.999151	0.19121	0.304812	0.030814	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.58940	0.42;0.3	5.73	5.73	0.89815	.	0.126867	0.64402	D	0.000001	T	0.25082	0.0609	L	0.52011	1.625	0.09310	P	0.9999999999999809	B;B	0.22346	0.068;0.03	B;B	0.18561	0.022;0.006	T	0.10359	-1.0633	9	0.07990	T	0.79	-30.6674	6.7209	0.23330	0.6592:0.135:0.0:0.2058	rs6941583;rs6941583	585;647	B4DG64;Q9Y253	.;POLH_HUMAN	L	647;585	ENSP00000361310:M647L;ENSP00000442102:M585L	ENSP00000361310:M647L	M	+	1	0	POLH	43690069	0.997000	0.39634	0.996000	0.52242	0.949000	0.60115	2.921000	0.48852	2.302000	0.77476	0.533000	0.62120	ATG	A|0.875;T|0.125	0.125	strong		0.502	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		T	43582091	A	T	43582091	3	4	22	1	0	0	0	0	1	0	0	0	12202	449	16	5	1977	5	POLH	6	43582091	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	505	43582091	127532976	3751	8859										
GTPBP2	54676	hgsc.bcm.edu	37	chr6	43590408	43590408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaaagtccccaagcgccaGtgtagcagcctgaccagctc	10	15	1	1	rs16896609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43590408G>A	ENST00000307126.5	-	10	1428	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.L389L	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCAAGCGCCAGTGTAGCAGCC	0.612													A|||	1036	0.206869	0.5643	0.0793	5008	,	,		21625	0.0357		0.0646	False		,,,				2504	0.137				p.L477L	GBM(116;405 1620 28302 32150 44768)	Atlas-SNP	.											.	GTPBP2	39	.	0			c.C1429T						PASS	.	A		2194,2212	588.7+/-387.0	561,1072,570	138	129	132		1429	-5.8	0	6	dbSNP_123	132	558,8042	792.9+/-407.5	13,532,3755	no	coding-synonymous	GTPBP2	NM_019096.3		574,1604,4325	AA,AG,GG		6.4884,49.7957,21.1595		477/603	43590408	2752,10254	2203	4300	6503	SO:0001819	synonymous_variant	54676	exon10			GCGCCAGTGTAGC	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1429C>T	6.37:g.43590408G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	134	134	1	NM_019096		Silent	SNP	ENST00000307126.5	37	CCDS4903.1	366	0.16758241758241757	268	0.5447154471544715	28	0.07734806629834254	25	0.043706293706293704	45	0.059366754617414245	A	7.485	0.649547	0.14516	0.497957	0.064884	ENSG00000172432	ENST00000419497;ENST00000432918	.	.	.	5.37	-5.75	0.02384	.	.	.	.	.	T	0.71668	0.3367	.	.	.	0.09310	P	0.9999999999685968	.	.	.	.	.	.	T	0.75712	-0.3222	4	0.62326	D	0.03	-9.6506	23.5311	0.99983	0.1559:0.0:0.8441:0.0	rs16896609;rs16896609	.	.	.	I	45	.	ENSP00000392944:T45I	T	-	2	0	GTPBP2	43698386	0.002000	0.14202	0.001000	0.08648	0.896000	0.52359	-0.001000	0.12947	-2.204000	0.00743	-1.396000	0.01147	ACT	G|0.812;A|0.188	0.188	strong		0.612	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			A	43590408	G	A	43590408	2	1	22	1	0	0	0	0	0	0	0	1	6880	1020	36	2		2	GTPBP2	6	43590408	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8317	43590408	127524659	3752	8860										
VEGFA	7422	hgsc.bcm.edu	37	chr6	43738977	43738977	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggccccggtcgggcctcCgaaaccatgaactttctgct	11	16	1	1	rs25648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43738977C>T	ENST00000523873.1	+	0	32				VEGFA_ENST00000518824.1_5'Flank|VEGFA_ENST00000520948.1_5'UTR|VEGFA_ENST00000372067.3_Silent_p.S178S|VEGFA_ENST00000417285.2_Silent_p.S178S|VEGFA_ENST00000230480.6_5'Flank|VEGFA_ENST00000372077.4_5'UTR|VEGFA_ENST00000425836.2_Silent_p.S178S|VEGFA_ENST00000482630.2_Silent_p.S178S|VEGFA_ENST00000324450.6_Silent_p.S178S|VEGFA_ENST00000523125.1_5'Flank|VEGFA_ENST00000372055.4_Silent_p.S178S|VEGFA_ENST00000523950.1_5'UTR|VEGFA_ENST00000413642.3_Silent_p.S178S|VEGFA_ENST00000518689.1_5'Flank|VEGFA_ENST00000372064.4_Silent_p.S178S|VEGFA_ENST00000457104.2_5'Flank|RP1-261G23.7_ENST00000607600.1_RNA			P15692	VEGFA_HUMAN	vascular endothelial growth factor A						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GTCGGGCCTCCGAAACCATGA	0.697													c|||	607	0.121206	0.0711	0.1412	5008	,	,		12416	0.1002		0.173	False		,,,				2504	0.1431				p.S178S		Atlas-SNP	.											.	VEGFA	21	.	0			c.C534T						PASS	.		,,,,,,,,,,,,,,,,,	212,2616		4,204,1206	20	21	21		534,534,534,534,534,534,534,,,,,,,,,,534,534	2.6	1	6	dbSNP_72	21	881,5503		52,777,2363	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,coding-synonymous,coding-synonymous	VEGFA	NM_001025366.2,NM_001025367.2,NM_001025368.2,NM_001025369.2,NM_001025370.2,NM_001033756.2,NM_001171622.1,NM_001171623.1,NM_001171624.1,NM_001171625.1,NM_001171626.1,NM_001171627.1,NM_001171628.1,NM_001171629.1,NM_001171630.1,NM_001204384.1,NM_001204385.1,NM_003376.5	,,,,,,,,,,,,,,,,,	56,981,3569	TT,TC,CC		13.8001,7.4965,11.865	,,,,,,,,,,,,,,,,,	178/413,178/390,178/372,178/355,178/328,178/372,178/318,,,,,,,,,,178/352,178/396	43738977	1093,8119	1414	3192	4606	SO:0001623	5_prime_UTR_variant	7422	exon1			GGCCTCCGAAACC	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.-7C>T	6.37:g.43738977C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_001171622	B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	CCDS55010.1	281	0.12866300366300365	31	0.06300813008130081	51	0.1408839779005525	68	0.11888111888111888	131	0.17282321899736147	c	9.893	1.204780	0.22205	0.074965	0.138001	ENSG00000112715	ENST00000519767	.	.	.	3.52	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999999891876	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8125	7.0029	0.24820	0.0:0.8686:0.0:0.1314	rs25648;rs25648	.	.	.	X	150	.	.	R	+	1	2	VEGFA	43846955	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.235000	0.17948	0.666000	0.31087	0.457000	0.33378	CGA	C|0.876;T|0.124	0.124	strong		0.697	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		T	43738977	C	T	43738977	1	4	22	0	1	0	0	0	0	0	0	0	17147	639	23	1		1	VEGFA	6	43738977	5'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148569	43738977	127376090	3753	8861										
C6orf223	221416	hgsc.bcm.edu	37	chr6	43970602	43970602	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcgcgcgccgaggagcccGggacaggtgactcctagagg	18	13	0	2	rs117880737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43970602G>C	ENST00000336600.5	+	4	488	c.468G>C	c.(466-468)ccG>ccC	p.P156P	C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_Silent_p.P136P	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	156										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGAGGAGCCCGGGACAGGTGA	0.791													G|||	208	0.0415335	0.053	0.0303	5008	,	,		8130	0.0466		0.0427	False		,,,				2504	0.0276				p.P156P		Atlas-SNP	.											.	C6orf223	14	.	0			c.G468C						PASS	.	G	,	100,3698		0,100,1799	4	5	5		,468	-7.6	0	6	dbSNP_132	5	119,7499		2,115,3692	no	utr-3,coding-synonymous	C6orf223	NM_001171992.1,NM_153246.4	,	2,215,5491	CC,CG,GG		1.5621,2.633,1.9184	,	,156/243	43970602	219,11197	1899	3809	5708	SO:0001819	synonymous_variant	221416	exon4			GAGCCCGGGACAG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.468G>C	6.37:g.43970602G>C		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_153246	E9PB59|Q8N575	Silent	SNP	ENST00000336600.5	37	CCDS34459.1																																																																																			G|0.957;C|0.043	0.043	strong		0.791	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		C	43970602	G	C	43970602	2	2	22	1	0	0	0	0	0	0	0	1	2357	1103	39	4		4	C6orf223	6	43970602	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	231625	43970602	127144465	3754	8862										
C6orf223	221416	hgsc.bcm.edu	37	chr6	43970658	43970658	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccggcgggagtcccttcTtcgcggcctctgccgccccc	11	22	2	0	rs115402675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:43970658T>A	ENST00000336600.5	+	4	544	c.524T>A	c.(523-525)cTt>cAt	p.L175H	C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_Missense_Mutation_p.L155H	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	175								p.L175H(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GAGTCCCTTCTTCGCGGCCTC	0.731													T|||	243	0.0485224	0.0711	0.0403	5008	,	,		9653	0.0476		0.0457	False		,,,				2504	0.0276				p.L175H		Atlas-SNP	.											C6orf223,NS,carcinoma,0,1	C6orf223	14	1	1	Substitution - Missense(1)	pancreas(1)	c.T524A						PASS	.	T	HIS/LEU,	261,4095		7,247,1924	11	15	14		524,	-4.4	0	6	dbSNP_132	14	263,8263		4,255,4004	yes	missense,utr-3	C6orf223	NM_153246.4,NM_001171992.1	99,	11,502,5928	AA,AT,TT		3.0847,5.9917,4.0677	probably-damaging,	175/243,	43970658	524,12358	2178	4263	6441	SO:0001583	missense	221416	exon4			CCCTTCTTCGCGG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.524T>A	6.37:g.43970658T>A	ENSP00000426159:p.Leu175His	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_153246	E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	37	CCDS34459.1	112	0.05128205128205128	34	0.06910569105691057	18	0.049723756906077346	23	0.04020979020979021	37	0.048812664907651716	T	10.08	1.252805	0.22965	0.059917	0.030847	ENSG00000181577	ENST00000336600	T	0.44482	0.92	3.15	-4.4	0.03600	.	1.404370	0.05315	N	0.525593	T	0.12646	0.0307	N	0.08118	0	0.09310	N	0.999996	D	0.55385	0.971	P	0.50490	0.642	T	0.07693	-1.0759	10	0.87932	D	0	.	5.4409	0.16509	0.0:0.218:0.5041:0.2779	.	175	Q8N319	CF223_HUMAN	H	175	ENSP00000426159:L175H	ENSP00000426159:L175H	L	+	2	0	C6orf223	44078636	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	0.573000	0.23699	-0.896000	0.03915	-0.496000	0.04628	CTT	T|0.955;A|0.045	0.045	strong		0.731	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		A	43970658	T	A	43970658	3	1	22	1	0	0	0	0	1	0	0	0	2357	1609	56	5	581	5	C6orf223	6	43970658	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56	43970658	127144409	3755	8863										
CAPN11	11131	hgsc.bcm.edu	37	chr6	44151490	44151490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactggccatatttgcttgaGcctggaacaggtacttggag	12	8	0	1	rs7761137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44151490G>A	ENST00000398776.1	+	22	2221	c.2183G>A	c.(2182-2184)aGc>aAc	p.S728N	CAPN11_ENST00000542245.1_Missense_Mutation_p.S728N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	728	Domain IV.		S -> N (in dbSNP:rs7761137).		proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTTGCTTGAGCCTGGAACAG	0.567													A|||	1369	0.273363	0.5862	0.232	5008	,	,		17118	0.0099		0.2256	False		,,,				2504	0.2004				p.S728N		Atlas-SNP	.											.	CAPN11	66	.	0			c.G2183A						PASS	.	A	ASN/SER	1943,1935		483,977,479	59	60	60		2183	1.8	0	6	dbSNP_116	60	1934,6366		222,1490,2438	yes	missense	CAPN11	NM_007058.3	46	705,2467,2917	AA,AG,GG		23.3012,49.8969,31.8361	benign	728/740	44151490	3877,8301	1939	4150	6089	SO:0001583	missense	11131	exon22			GCTTGAGCCTGGA	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2183G>A	6.37:g.44151490G>A	ENSP00000381758:p.Ser728Asn	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	207	203	0.980676	NM_007058	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	532	0.24358974358974358	274	0.556910569105691	88	0.2430939226519337	2	0.0034965034965034965	168	0.22163588390501318	A	2.406	-0.336407	0.05278	0.501031	0.233012	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.29917	1.55;1.55	4.28	1.82	0.25136	EF-hand-like domain (1);	0.750513	0.11867	N	0.521786	T	0.02342	0.0072	N	0.02685	-0.53	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44892	-0.9298	9	0.02654	T	1	.	4.4802	0.11764	0.6492:0.1676:0.1833:0.0	rs7761137;rs61438246;rs7761137	728	Q9UMQ6	CAN11_HUMAN	N	728	ENSP00000381758:S728N;ENSP00000441078:S728N	ENSP00000381758:S728N	S	+	2	0	CAPN11	44259468	0.894000	0.30519	0.000000	0.03702	0.644000	0.38419	0.549000	0.23329	0.082000	0.17018	-0.321000	0.08615	AGC	G|0.721;A|0.279	0.279	strong		0.567	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44151490	G	A	44151490	3	1	22	1	0	0	0	0	1	0	0	0	2624	971	34	2	2269	2	CAPN11	6	44151490	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	180832	44151490	126963577	3756	8864										
SLC35B2	347734	hgsc.bcm.edu	37	chr6	44223292	44223292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccaggaactgcgagtcCgtaaagcgctcacccggtga	12	13	1	1	rs35112470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44223292C>T	ENST00000393812.3	-	4	593	c.450G>A	c.(448-450)acG>acA	p.T150T	SLC35B2_ENST00000538577.1_Silent_p.T57T|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Silent_p.T17T|SLC35B2_ENST00000393810.1_3'UTR|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	150					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGCGAGTCCGTAAAGCGCT	0.587													C|||	114	0.0227636	0.0855	0.0014	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.0				p.T150T		Atlas-SNP	.											.	SLC35B2	40	.	0			c.G450A						PASS	.	C		296,4110	162.2+/-194.2	7,282,1914	94	93	93		450	-11.6	0.5	6	dbSNP_126	93	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SLC35B2	NM_178148.2		7,289,6207	TT,TC,CC		0.0814,6.7181,2.3297		150/433	44223292	303,12703	2203	4300	6503	SO:0001819	synonymous_variant	347734	exon4			CGAGTCCGTAAAG	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.450G>A	6.37:g.44223292C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	126	72	0.571429	NM_178148	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																			C|0.977;T|0.023	0.023	strong		0.587	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			T	44223292	C	T	44223292	2	4	22	1	0	0	0	0	0	0	0	1	14576	639	23	1		1	SLC35B2	6	44223292	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71802	44223292	126891775	3757	8865										
TCTE1	202500	hgsc.bcm.edu	37	chr6	44249939	44249939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggcggtgggctcagacaGctcattgccaccgaggtgca	15	11	2	1	rs34405945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44249939G>A	ENST00000371505.4	-	4	1326	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	402										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCAGACAGCTCATTGCCA	0.602													G|||	60	0.0119808	0.0446	0.0014	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0				p.L402L		Atlas-SNP	.											.	TCTE1	77	.	0			c.C1204T						PASS	.	G		113,4293	85.8+/-124.5	0,113,2090	159	127	138		1204	2.4	1	6	dbSNP_126	138	1,8599		0,1,4299	yes	coding-synonymous	TCTE1	NM_182539.3		0,114,6389	AA,AG,GG		0.0116,2.5647,0.8765		402/502	44249939	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	202500	exon4			CAGACAGCTCATT	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1204C>T	6.37:g.44249939G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	183	98	0.535519	NM_182539	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																			G|0.988;A|0.012	0.012	strong		0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		A	44249939	G	A	44249939	2	1	22	1	0	0	0	0	0	0	0	1	15714	962	34	2		2	TCTE1	6	44249939	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26647	44249939	126865128	3758	8866										
AARS2	57505	hgsc.bcm.edu	37	chr6	44270189	44270189	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccacatcccggctccccAgactcagccgctcagtggcc	9	21	2	1	rs35967387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44270189A>T	ENST00000244571.4	-	18	2428	c.2426T>A	c.(2425-2427)cTg>cAg	p.L809Q	AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGCTCCCCAGACTCAGCCG	0.632													T|||	114	0.0227636	0.0847	0.0029	5008	,	,		18406	0.0		0.0	False		,,,				2504	0.0				p.L809Q		Atlas-SNP	.											.	AARS2	77	.	0			c.T2426A						PASS	.	T	GLN/LEU	256,4150	795.4+/-415.3	5,246,1952	41	46	44		2426	0.2	1	6	dbSNP_126	44	1,8599		0,1,4299	yes	missense	AARS2	NM_020745.2	113	5,247,6251	TT,TA,AA		0.0116,5.8103,1.976	benign	809/986	44270189	257,12749	2203	4300	6503	SO:0001583	missense	57505	exon18			CTCCCCAGACTCA	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2426T>A	6.37:g.44270189A>T	ENSP00000244571:p.Leu809Gln	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	131	66	0.503817	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	48	0.02197802197802198	47	0.09552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	T	1.128	-0.653372	0.03480	0.058103	1.16E-4	ENSG00000124608	ENST00000244571	T	0.63913	-0.07	5.32	0.155	0.14906	.	1.197330	0.05517	N	0.561479	T	0.09113	0.0225	N	0.01048	-1.04	0.22947	N	0.998524	B	0.02656	0.0	B	0.01281	0.0	T	0.09250	-1.0683	10	0.12103	T	0.63	-10.1928	4.7087	0.12861	0.2367:0.3061:0.0:0.4572	rs35967387	809	Q5JTZ9	SYAM_HUMAN	Q	809	ENSP00000244571:L809Q	ENSP00000244571:L809Q	L	-	2	0	AARS2	44378167	0.362000	0.24980	0.961000	0.40146	0.084000	0.17831	-0.656000	0.05342	-0.185000	0.10550	-0.983000	0.02560	CTG	A|0.977;T|0.023	0.023	strong		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		T	44270189	A	T	44270189	3	4	22	1	0	0	0	0	1	0	0	0	20	188	7	5	551	5	AARS2	6	44270189	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20250	44270189	126844878	3759	8867										
AARS2	57505	hgsc.bcm.edu	37	chr6	44279824	44279824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccttaaaatattcaccCccaaaggcccaattgccaag	4	15	2	0	rs75506489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44279824C>T	ENST00000244571.4	-	2	422	c.420G>A	c.(418-420)ggG>ggA	p.G140G	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATTCACCCCCAAAGGCCC	0.483													C|||	108	0.0215655	0.0809	0.0014	5008	,	,		21967	0.0		0.0	False		,,,				2504	0.0				p.G140G		Atlas-SNP	.											.	AARS2	77	.	0			c.G420A						PASS	.	C		220,4186	132.5+/-169.0	3,214,1986	177	170	172		420	1.7	1	6	dbSNP_132	172	1,8599		0,1,4299	no	coding-synonymous	AARS2	NM_020745.2		3,215,6285	TT,TC,CC		0.0116,4.9932,1.6992		140/986	44279824	221,12785	2203	4300	6503	SO:0001819	synonymous_variant	57505	exon2			TTCACCCCCAAAG	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.420G>A	6.37:g.44279824C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	137	53	0.386861	NM_020745		Silent	SNP	ENST00000244571.4	37	CCDS34464.1																																																																																			C|0.980;T|0.020	0.020	strong		0.483	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		T	44279824	C	T	44279824	2	4	22	1	0	0	0	0	0	0	0	1	20	610	22	2		2	AARS2	6	44279824	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9635	44279824	126835243	3760	8868										
CDC5L	988	hgsc.bcm.edu	37	chr6	44371714	44371714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaactaccaagctcttgaCgcagatttcaggaaattaag	8	8	2	2	rs6934058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44371714C>T	ENST00000371477.3	+	6	1007	c.708C>T	c.(706-708)gaC>gaT	p.D236D		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	236	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGCTCTTGACGCAGATTTCA	0.398													c|||	1485	0.296526	0.2201	0.1571	5008	,	,		14421	0.6111		0.0934	False		,,,				2504	0.3834				p.D236D		Atlas-SNP	.											.	CDC5L	86	.	0			c.C708T						PASS	.	T		932,3474	350.8+/-311.0	89,754,1360	67	70	69		708	1	1	6	dbSNP_116	69	745,7855	179.0+/-228.3	31,683,3586	no	coding-synonymous	CDC5L	NM_001253.2		120,1437,4946	TT,TC,CC		8.6628,21.153,12.894		236/803	44371714	1677,11329	2203	4300	6503	SO:0001819	synonymous_variant	988	exon6			TCTTGACGCAGAT	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.708C>T	6.37:g.44371714C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_001253	Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	CCDS4912.1																																																																																			C|0.795;T|0.205	0.205	strong		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			T	44371714	C	T	44371714	2	4	22	1	0	0	0	0	0	0	0	1	3082	535	19	1		1	CDC5L	6	44371714	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91890	44371714	126743353	3761	8869										
CDC5L	988	hgsc.bcm.edu	37	chr6	44387305	44387305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgacaagttgtacagacTccaaacacagttctctctac	6	13	2	1	rs11571982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44387305T>C	ENST00000371477.3	+	9	1511	c.1212T>C	c.(1210-1212)acT>acC	p.T404T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	404	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGTACAGACTCCAAACACAG	0.398													T|||	58	0.0115815	0.0393	0.0086	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.0				p.T404T		Atlas-SNP	.											.	CDC5L	86	.	0			c.T1212C						PASS	.	T		140,4266	100.3+/-138.9	1,138,2064	154	138	143		1212	0.3	1	6	dbSNP_120	143	0,8600		0,0,4300	no	coding-synonymous	CDC5L	NM_001253.2		1,138,6364	CC,CT,TT		0.0,3.1775,1.0764		404/803	44387305	140,12866	2203	4300	6503	SO:0001819	synonymous_variant	988	exon9			ACAGACTCCAAAC	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1212T>C	6.37:g.44387305T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_001253	Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	CCDS4912.1																																																																																			T|0.989;C|0.011	0.011	strong		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			C	44387305	T	C	44387305	2	2	22	1	0	0	0	0	0	0	0	1	3082	1538	54	3		3	CDC5L	6	44387305	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15591	44387305	126727762	3762	8870										
CDC5L	988	hgsc.bcm.edu	37	chr6	44413463	44413463	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagatgaaaattttgctTgggggttaccagtctcgtgc	12	6	1	3	rs2273666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:44413463T>A	ENST00000371477.3	+	15	2462	c.2163T>A	c.(2161-2163)ctT>ctA	p.L721L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	721	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAATTTTGCTTGGGGGTTACC	0.463													T|||	1146	0.228834	0.0484	0.1441	5008	,	,		17504	0.5546		0.0785	False		,,,				2504	0.3517				p.L721L		Atlas-SNP	.											.	CDC5L	86	.	0			c.T2163A						PASS	.	T		245,4161	143.1+/-178.2	6,233,1964	89	87	87		2163	3.1	1	6	dbSNP_100	87	604,7996	159.2+/-212.6	19,566,3715	no	coding-synonymous	CDC5L	NM_001253.2		25,799,5679	AA,AT,TT		7.0233,5.5606,6.5278		721/803	44413463	849,12157	2203	4300	6503	SO:0001819	synonymous_variant	988	exon15			TTTGCTTGGGGGT	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2163T>A	6.37:g.44413463T>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_001253	Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	CCDS4912.1																																																																																			T|0.878;A|0.122	0.122	strong		0.463	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			A	44413463	T	A	44413463	2	1	22	1	0	0	0	0	0	0	0	1	3082	1799	63	5		5	CDC5L	6	44413463	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26158	44413463	126701604	3763	8871										
ENPP4	22875	hgsc.bcm.edu	37	chr6	46108916	46108916	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccattattttggttgcCgatgaaggctggacaattgt	11	8	0	1	rs9472696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46108916C>G	ENST00000321037.4	+	3	1184	c.954C>G	c.(952-954)gcC>gcG	p.A318A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	318					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTTTGGTTGCCGATGAAGGCT	0.333													C|||	468	0.0934505	0.1339	0.0576	5008	,	,		17451	0.1716		0.0656	False		,,,				2504	0.0123				p.A318A		Atlas-SNP	.											.	ENPP4	44	.	0			c.C954G						PASS	.	C		607,3799	264.7+/-266.2	50,507,1646	92	83	86		954	-0.6	1	6	dbSNP_119	86	586,8008	155.4+/-209.4	15,556,3726	no	coding-synonymous	ENPP4	NM_014936.4		65,1063,5372	GG,GC,CC		6.8187,13.7767,9.1769		318/454	46108916	1193,11807	2203	4297	6500	SO:0001819	synonymous_variant	22875	exon3			GGTTGCCGATGAA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.954C>G	6.37:g.46108916C>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	99	32	0.323232	NM_014936	A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	CCDS34468.1																																																																																			C|0.901;G|0.099	0.099	strong		0.333	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			G	46108916	C	G	46108916	2	3	22	1	0	0	0	0	0	0	0	1	5132	639	23	4		4	ENPP4	6	46108916	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1695453	46108916	125006151	3764	8872										
CYP39A1	51302	hgsc.bcm.edu	37	chr6	46563817	46563817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccatttaattagaaggagAttctccaggtcatcctcaga	7	10	3	3	rs7761731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46563817A>T	ENST00000275016.2	-	8	1175	c.972T>A	c.(970-972)aaT>aaA	p.N324K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	324			N -> K (in dbSNP:rs7761731). {ECO:0000269|PubMed:10748047}.		bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTAGAAGGAGATTCTCCAGGT	0.353													T|||	2459	0.491014	0.7035	0.3833	5008	,	,		15400	0.3859		0.2684	False		,,,				2504	0.6176				p.N324K		Atlas-SNP	.											.	CYP39A1	41	.	0			c.T972A						PASS	.	T	LYS/ASN	2767,1639	496.9+/-363.7	869,1029,305	82	87	85		972	-0.5	1	6	dbSNP_116	85	2293,6307	703.7+/-405.4	312,1669,2319	yes	missense	CYP39A1	NM_016593.3	94	1181,2698,2624	TT,TA,AA		26.6628,37.1993,38.9051	benign	324/470	46563817	5060,7946	2203	4300	6503	SO:0001583	missense	51302	exon8			AAGGAGATTCTCC	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.972T>A	6.37:g.46563817A>T	ENSP00000275016:p.Asn324Lys	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	244	114	0.467213	NM_016593	Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	914	0.4184981684981685	375	0.7621951219512195	135	0.3729281767955801	205	0.3583916083916084	199	0.262532981530343	T	1.157	-0.644802	0.03531	0.628007	0.266628	ENSG00000146233	ENST00000275016	D	0.84442	-1.85	5.64	-0.545	0.11843	.	0.191501	0.44285	N	0.000470	T	0.24314	0.0589	N	0.00788	-1.185	0.53005	P	3.100000000000325E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	9	0.02654	T	1	-12.3399	3.8072	0.08782	0.1147:0.4417:0.1896:0.254	rs7761731;rs52826280;rs61011153;rs7761731	304;324	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	324	ENSP00000275016:N324K	ENSP00000275016:N324K	N	-	3	2	CYP39A1	46671776	0.973000	0.33851	0.964000	0.40570	0.654000	0.38779	-0.051000	0.11885	-0.349000	0.08274	-0.375000	0.07067	AAT	A|0.592;T|0.408	0.408	strong		0.353	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			T	46563817	A	T	46563817	3	4	22	1	0	0	0	0	1	0	0	0	4177	330	12	5	457	5	CYP39A1	6	46563817	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	454901	46563817	124551250	3765	8873										
GPR116	221395	hgsc.bcm.edu	37	chr6	46826319	46826319	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatagaacagcatgaggccCagtgtcagcatccagaagaa	11	10	1	4	rs150389766		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46826319C>G	ENST00000283296.7	-	17	3609	c.3321G>C	c.(3319-3321)ctG>ctC	p.L1107L	GPR116_ENST00000456426.2_Silent_p.L965L|GPR116_ENST00000265417.7_Silent_p.L1107L|GPR116_ENST00000545669.1_Silent_p.L536L|GPR116_ENST00000362015.4_Silent_p.L1107L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1107					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCATGAGGCCCAGTGTCAGCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20103	0.0		0.0	False		,,,				2504	0.0				p.L1107L	NSCLC(59;410 1274 8751 36715 50546)	Atlas-SNP	.											.	GPR116	133	.	0			c.G3321C						PASS	.	C	,	1,4405	2.1+/-5.4	0,1,2202	50	51	51		3321,3321	3.6	1	6	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPR116	NM_001098518.1,NM_015234.4	,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,	1107/1347,1107/1347	46826319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221395	exon17			GAGGCCCAGTGTC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3321G>C	6.37:g.46826319C>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	139	61	0.438849	NM_015234	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																			C|1.000;G|0.000	0.000	weak		0.512	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		G	46826319	C	G	46826319	2	3	22	1	0	0	0	0	0	0	0	1	6633	581	21	4		4	GPR116	6	46826319	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	262502	46826319	124288748	3766	8874										
GPR116	221395	hgsc.bcm.edu	37	chr6	46856100	46856100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatttatgctcaaaatgtcGgtaatttggtcagtgttatt	8	5	2	0	rs678312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46856100G>A	ENST00000283296.7	-	4	588	c.300C>T	c.(298-300)acC>acT	p.T100T	GPR116_ENST00000456426.2_Silent_p.T100T|GPR116_ENST00000265417.7_Silent_p.T100T|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000362015.4_Silent_p.T100T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	100					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAAAATGTCGGTAATTTGGT	0.403													G|||	4312	0.861022	0.9387	0.8602	5008	,	,		21901	0.8413		0.8618	False		,,,				2504	0.7761				p.T100T	NSCLC(59;410 1274 8751 36715 50546)	Atlas-SNP	.											.	GPR116	133	.	0			c.C300T						PASS	.	G	,	4096,310	797.8+/-415.4	1904,288,11	136	129	131		300,300	-10.9	0	6	dbSNP_83	131	7530,1070	769.5+/-407.6	3296,938,66	no	coding-synonymous,coding-synonymous	GPR116	NM_001098518.1,NM_015234.4	,	5200,1226,77	AA,AG,GG		12.4419,7.0359,10.6105	,	100/1347,100/1347	46856100	11626,1380	2203	4300	6503	SO:0001819	synonymous_variant	221395	exon4			AATGTCGGTAATT	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.300C>T	6.37:g.46856100G>A		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	241	241	1	NM_015234	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																			G|0.108;A|0.892	0.892	strong		0.403	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46856100	G	A	46856100	2	1	22	1	0	0	0	0	0	0	0	1	6633	1103	39	1		1	GPR116	6	46856100	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29781	46856100	124258967	3767	8875										
GPR110	266977	hgsc.bcm.edu	37	chr6	46976812	46976812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctcttccccacgcggaTgatggtggccttgtcatccc	12	14	2	1	rs1226475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46976812T>C	ENST00000371253.2	-	11	2574	c.2359A>G	c.(2359-2361)Atc>Gtc	p.I787V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I590V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	787			I -> V (in dbSNP:rs1226475).		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCACGCGGATGATGGTGGCC	0.547													C|||	1039	0.207468	0.4924	0.1499	5008	,	,		17465	0.1776		0.0089	False		,,,				2504	0.0982				p.I787V		Atlas-SNP	.											.	GPR110	102	.	0			c.A2359G						PASS	.	C	VAL/ILE	1650,2756	658.4+/-400.4	301,1048,854	69	72	71		2359	-2.8	0	6	dbSNP_87	71	68,8532	816.3+/-406.9	0,68,4232	yes	missense	GPR110	NM_153840.2	29	301,1116,5086	CC,CT,TT		0.7907,37.4489,13.2093	benign	787/911	46976812	1718,11288	2203	4300	6503	SO:0001583	missense	266977	exon11			CGCGGATGATGGT	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2359A>G	6.37:g.46976812T>C	ENSP00000360299:p.Ile787Val	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	146	63	0.431507	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	395	0.18086080586080586	236	0.4796747967479675	44	0.12154696132596685	107	0.18706293706293706	8	0.010554089709762533	C	0.004	-2.307123	0.00240	0.374489	0.007907	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.32023	1.47;1.47	5.9	-2.84	0.05751	GPCR, family 2-like (1);	1.234140	0.05613	N	0.578468	T	0.05181	0.0138	N	0.10916	0.065	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.36696	-0.9737	9	0.16420	T	0.52	-0.9218	12.6954	0.57001	0.0:0.0893:0.0829:0.8278	rs1226475;rs1762331;rs52807982;rs1226475	787	Q5T601	GP110_HUMAN	V	787;590	ENSP00000360299:I787V;ENSP00000283297:I590V	ENSP00000283297:I590V	I	-	1	0	GPR110	47084771	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.155000	0.10115	-1.185000	0.02716	-0.755000	0.03482	ATC	T|0.836;C|0.164	0.164	strong		0.547	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		C	46976812	T	C	46976812	3	2	22	1	0	0	0	0	1	0	0	0	6627	1464	51	2	393	2	GPR110	6	46976812	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	120712	46976812	124138255	3768	8876										
GPR110	266977	hgsc.bcm.edu	37	chr6	46976924	46976924	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacaatagccagtgcaggGacaacaaaagccaggagtgg	13	10	0	0	rs45511696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46976924G>A	ENST00000371253.2	-	11	2462	c.2247C>T	c.(2245-2247)gtC>gtT	p.V749V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.V552V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	749					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCAGTGCAGGGACAACAAAAG	0.493													G|||	186	0.0371406	0.0787	0.0389	5008	,	,		22252	0.0		0.0447	False		,,,				2504	0.0102				p.V749V		Atlas-SNP	.											.	GPR110	102	.	0			c.C2247T						PASS	.	G		375,4031	188.5+/-214.9	14,347,1842	92	97	95		2247	1.2	0.5	6	dbSNP_127	95	328,8272	115.3+/-175.2	7,314,3979	no	coding-synonymous	GPR110	NM_153840.2		21,661,5821	AA,AG,GG		3.814,8.5111,5.4052		749/911	46976924	703,12303	2203	4300	6503	SO:0001819	synonymous_variant	266977	exon11			TGCAGGGACAACA	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2247C>T	6.37:g.46976924G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	135	69	0.511111	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	CCDS34471.1																																																																																			G|0.952;A|0.048	0.048	strong		0.493	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46976924	G	A	46976924	2	1	22	1	0	0	0	0	0	0	0	1	6627	1161	41	2		2	GPR110	6	46976924	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112	46976924	124138143	3769	8877										
GPR110	266977	hgsc.bcm.edu	37	chr6	46977458	46977458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggacaaaaggtgacatcaaTatggagaaggaggtcaagtg	15	4	2	2	rs937057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46977458T>C	ENST00000371253.2	-	11	1928	c.1713A>G	c.(1711-1713)atA>atG	p.I571M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I374M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	571	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGACATCAATATGGAGAAGG	0.453													C|||	1040	0.207668	0.4932	0.1499	5008	,	,		21255	0.1776		0.0089	False		,,,				2504	0.0982				p.I571M		Atlas-SNP	.											.	GPR110	102	.	0			c.A1713G						PASS	.	C	MET/ILE	1651,2755	658.3+/-400.4	302,1047,854	143	125	131		1713	-2.6	0.6	6	dbSNP_86	131	69,8531	816.3+/-406.9	0,69,4231	yes	missense	GPR110	NM_153840.2	10	302,1116,5085	CC,CT,TT		0.8023,37.4716,13.2247	benign	571/911	46977458	1720,11286	2203	4300	6503	SO:0001583	missense	266977	exon11			CATCAATATGGAG	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1713A>G	6.37:g.46977458T>C	ENSP00000360299:p.Ile571Met	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	106	43	0.40566	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	395	0.18086080586080586	236	0.4796747967479675	44	0.12154696132596685	107	0.18706293706293706	8	0.010554089709762533	C	9.181	1.023651	0.19433	0.374716	0.008023	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.71934	-0.61;-0.61	5.76	-2.6	0.06190	GPS domain (3);	0.807401	0.11522	N	0.555607	T	0.28995	0.0720	L	0.35723	1.085	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.15870	0.014	T	0.08186	-1.0734	9	0.42905	T	0.14	-2.1745	0.262	0.00220	0.3495:0.1815:0.1606:0.3084	rs937057;rs52812684;rs937057	571	Q5T601	GP110_HUMAN	M	571;571;374	ENSP00000360299:I571M;ENSP00000283297:I374M	ENSP00000283297:I374M	I	-	3	3	GPR110	47085417	0.293000	0.24371	0.591000	0.28745	0.952000	0.60782	-0.285000	0.08410	-0.827000	0.04278	-0.227000	0.12334	ATA	T|0.832;C|0.168	0.168	strong		0.453	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		C	46977458	T	C	46977458	3	2	22	1	0	0	0	0	1	0	0	0	6627	1396	49	2	1039	2	GPR110	6	46977458	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	534	46977458	124137609	3770	8878										
GPR110	266977	hgsc.bcm.edu	37	chr6	46977783	46977783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctgacccaattaacacaCggcctctgatgggaatagat	10	10	2	3	rs45598235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46977783C>T	ENST00000371253.2	-	11	1603	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.R266H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	463					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AATTAACACACGGCCTCTGAT	0.438													C|||	186	0.0371406	0.0787	0.0389	5008	,	,		20334	0.0		0.0447	False		,,,				2504	0.0102				p.R463H		Atlas-SNP	.											GPR110,NS,carcinoma,0,1	GPR110	102	1	0			c.G1388A						PASS	.	C	HIS/ARG	378,4028	190.9+/-216.7	14,350,1839	97	92	94		1388	-3.6	0	6	dbSNP_127	94	328,8272	115.3+/-175.2	7,314,3979	yes	missense	GPR110	NM_153840.2	29	21,664,5818	TT,TC,CC		3.814,8.5792,5.4283	benign	463/911	46977783	706,12300	2203	4300	6503	SO:0001583	missense	266977	exon11			AACACACGGCCTC	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1388G>A	6.37:g.46977783C>T	ENSP00000360299:p.Arg463His	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	176	85	0.482955	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	83	0.038003663003663	43	0.08739837398373984	13	0.03591160220994475	0	0.0	27	0.03562005277044855	C	8.205	0.798930	0.16397	0.085792	0.03814	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.34472	1.37;1.36	5.2	-3.63	0.04529	.	1.386990	0.04430	N	0.369085	T	0.04588	0.0125	N	0.02202	-0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.35671	T	0.21	-0.5469	6.9695	0.24640	0.0:0.2802:0.2071:0.5127	rs45598235	463	Q5T601	GP110_HUMAN	H	463;463;266	ENSP00000360299:R463H;ENSP00000283297:R266H	ENSP00000283297:R266H	R	-	2	0	GPR110	47085742	0.000000	0.05858	0.022000	0.16811	0.063000	0.16089	-0.885000	0.04161	-0.181000	0.10619	-1.467000	0.01014	CGT	C|0.952;T|0.048	0.048	strong		0.438	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		T	46977783	C	T	46977783	3	4	22	1	0	0	0	0	1	0	0	0	6627	536	19	1	1364	1	GPR110	6	46977783	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	325	46977783	124137284	3771	8879										
GPR110	266977	hgsc.bcm.edu	37	chr6	46977894	46977894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttccagtcaatgaatttcCgagaaaaattcagaggaaga	8	7	2	4	rs115292676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:46977894C>T	ENST00000371253.2	-	11	1492	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.R229Q	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	426					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AATGAATTTCCGAGAAAAATT	0.428													C|||	59	0.0117812	0.0431	0.0014	5008	,	,		19836	0.0		0.0	False		,,,				2504	0.001				p.R426Q		Atlas-SNP	.											GPR110,colon,carcinoma,-1,2	GPR110	102	2	0			c.G1277A						PASS	.	C	GLN/ARG	135,4271	97.1+/-135.8	4,127,2072	80	77	78		1277	1.6	0.1	6	dbSNP_132	78	7,8593	5.7+/-21.5	0,7,4293	yes	missense	GPR110	NM_153840.2	43	4,134,6365	TT,TC,CC		0.0814,3.064,1.0918	possibly-damaging	426/911	46977894	142,12864	2203	4300	6503	SO:0001583	missense	266977	exon11			AATTTCCGAGAAA	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1277G>A	6.37:g.46977894C>T	ENSP00000360299:p.Arg426Gln	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	178	100	0.561798	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	C	8.645	0.896884	0.17686	0.03064	8.14E-4	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.32515	1.45;1.45	5.35	1.57	0.23409	.	0.603370	0.14993	N	0.286596	T	0.08935	0.0221	M	0.67953	2.075	0.09310	N	1	B	0.22604	0.072	B	0.09377	0.004	T	0.38200	-0.9672	10	0.09843	T	0.71	-0.0889	5.8064	0.18442	0.0:0.5882:0.1282:0.2836	.	426	Q5T601	GP110_HUMAN	Q	426;426;229	ENSP00000360299:R426Q;ENSP00000283297:R229Q	ENSP00000283297:R229Q	R	-	2	0	GPR110	47085853	0.000000	0.05858	0.104000	0.21259	0.823000	0.46562	-0.323000	0.07997	0.340000	0.23745	0.555000	0.69702	CGG	C|0.989;T|0.011	0.011	strong		0.428	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		T	46977894	C	T	46977894	3	4	22	1	0	0	0	0	1	0	0	0	6627	652	23	1	1475	1	GPR110	6	46977894	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111	46977894	124137173	3772	8880										
TNFRSF21	27242	hgsc.bcm.edu	37	chr6	47251772	47251772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatggcactgggatcctgcCggggcccctttttcagagtc	12	13	1	1	rs148459670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:47251772C>T	ENST00000296861.2	-	3	1538	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	382					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGATCCTGCCGGGGCCCCTT	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0				p.R382Q		Atlas-SNP	.											.	TNFRSF21	61	.	0			c.G1145A						PASS	.	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	91	99	96		1145	6.2	1	6	dbSNP_134	96	0,8600		0,0,4300	yes	missense	TNFRSF21	NM_014452.3	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	382/656	47251772	3,13003	2203	4300	6503	SO:0001583	missense	27242	exon3			TCCTGCCGGGGCC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1145G>A	6.37:g.47251772C>T	ENSP00000296861:p.Arg382Gln	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	269	137	0.509294	NM_014452	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892611	0.91889	6.81E-4	0.0	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.66099	-0.19	6.17	6.17	0.99709	.	0.162308	0.56097	D	0.000032	T	0.65450	0.2692	L	0.59436	1.845	0.47374	D	0.999408	D	0.71674	0.998	P	0.56788	0.806	T	0.68689	-0.5342	10	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	382	O75509	TNR21_HUMAN	Q	382;71	ENSP00000296861:R382Q	ENSP00000296861:R382Q	R	-	2	0	TNFRSF21	47359731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.682000	0.54656	2.941000	0.99782	0.655000	0.94253	CGG	C|1.000;T|0.000	0.000	strong		0.527	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		T	47251772	C	T	47251772	3	4	22	1	0	0	0	0	1	0	0	0	16292	652	23	1	838	1	TNFRSF21	6	47251772	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	273878	47251772	123863295	3773	8881										
MUT	4594	hgsc.bcm.edu	37	chr6	49409599	49409599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actttctccaaattcctggcGatatgctccactcaccattc	4	15	2	0	rs140727018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49409599G>A	ENST00000274813.3	-	10	1889	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	588					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATTCCTGGCGATATGCTCCA	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		10715	0.0		0.0	False		,,,				2504	0.0				p.R588C		Atlas-SNP	.											.	MUT	70	.	0			c.C1762T						PASS	.	G	CYS/ARG	16,4390	23.3+/-48.9	0,16,2187	231	210	217		1762	4.7	1	6	dbSNP_134	217	0,8600		0,0,4300	yes	missense	MUT	NM_000255.3	180	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	probably-damaging	588/751	49409599	16,12990	2203	4300	6503	SO:0001583	missense	4594	exon10			CCTGGCGATATGC		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1762C>T	6.37:g.49409599G>A	ENSP00000274813:p.Arg588Cys	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	256	134	0.523438	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	CCDS4924.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	22.7	4.329566	0.81690	0.003631	0.0	ENSG00000146085	ENST00000274813;ENST00000540138	D	0.95069	-3.6	5.59	4.72	0.59763	Cobalamin (vitamin B12)-binding (2);	0.000000	0.85682	D	0.000000	D	0.96156	0.8747	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.96378	0.9279	10	0.59425	D	0.04	-20.2086	15.0369	0.71754	0.0:0.0:0.8569:0.1431	.	588	P22033	MUTA_HUMAN	C	588;35	ENSP00000274813:R588C	ENSP00000274813:R588C	R	-	1	0	MUT	49517558	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.507000	0.81676	1.345000	0.45676	0.585000	0.79938	CGC	G|0.999;A|0.001	0.001	strong		0.388	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			A	49409599	G	A	49409599	3	1	22	1	0	0	0	0	1	0	0	0	9991	1058	37	1	506	1	MUT	6	49409599	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2157827	49409599	121705468	3774	8882										
CENPQ	55166	hgsc.bcm.edu	37	chr6	49459978	49459978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagcctataagaaactggAtgcatcttaaagagtgtttt	9	5	1	3	rs2501968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49459978A>G	ENST00000335783.3	+	9	891	c.797A>G	c.(796-798)gAt>gGt	p.D266G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	266			D -> G (in dbSNP:rs2501968).		CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAGAAACTGGATGCATCTTAA	0.318													A|||	2399	0.479034	0.4085	0.67	5008	,	,		16849	0.5794		0.4334	False		,,,				2504	0.3824				p.D266G		Atlas-SNP	.											CENPQ,colon,carcinoma,0,2	CENPQ	23	2	0			c.A797G						PASS	.	A	GLY/ASP	1823,2583	529.5+/-372.7	366,1091,746	78	77	78		797	4.2	0.4	6	dbSNP_100	78	3511,5089	508.5+/-377.1	718,2075,1507	yes	missense	CENPQ	NM_018132.3	94	1084,3166,2253	GG,GA,AA		40.8256,41.3754,41.0118	benign	266/269	49459978	5334,7672	2203	4300	6503	SO:0001583	missense	55166	exon9			AACTGGATGCATC	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.797A>G	6.37:g.49459978A>G	ENSP00000337289:p.Asp266Gly	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	45	11	0.244444	NM_018132	A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	1090	0.4990842490842491	201	0.40853658536585363	225	0.6215469613259669	361	0.6311188811188811	303	0.3997361477572559	A	11.95	1.790577	0.31685	0.413754	0.408256	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.55413	0.52	5.4	4.24	0.50183	.	0.288766	0.37304	N	0.002153	T	0.33876	0.0878	M	0.67953	2.075	0.39877	P	0.02641199999999999	B	0.20671	0.047	B	0.27796	0.083	T	0.35176	-0.9799	9	0.66056	D	0.02	-10.7583	8.0688	0.30676	0.9099:0.0:0.0901:0.0	rs2501968;rs3209643;rs3823209;rs52825404;rs57701029;rs2501968	266	Q7L2Z9	CENPQ_HUMAN	G	266	ENSP00000337289:D266G	ENSP00000337289:D266G	D	+	2	0	CENPQ	49567937	0.998000	0.40836	0.363000	0.25875	0.417000	0.31264	2.228000	0.42981	1.067000	0.40740	0.524000	0.50904	GAT	A|0.545;C|0.003	.	strong		0.318	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		G	49459978	A	G	49459978	3	3	22	1	0	0	0	0	1	0	0	0	3241	333	12	2	827	2	CENPQ	6	49459978	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50379	49459978	121655089	3775	8883										
CRISP2	7180	hgsc.bcm.edu	37	chr6	49666100	49666100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataatgtccaacaactgcaTtgggactctttggtcctaca	7	10	1	0	rs34457011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49666100T>C	ENST00000339139.4	-	7	628	c.392A>G	c.(391-393)aAt>aGt	p.N131S		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	131	SCP.		N -> S (in dbSNP:rs34457011).		single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AACAACTGCATTGGGACTCTT	0.408													T|||	35	0.00698882	0.0257	0.0014	5008	,	,		19608	0.0		0.0	False		,,,				2504	0.0				p.N131S		Atlas-SNP	.											.	CRISP2	53	.	0			c.A392G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	102,4304	82.4+/-120.9	2,98,2103	124	114	117		392,392,392,392,392	-1.4	0	6	dbSNP_126	117	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	CRISP2	NM_001142407.1,NM_001142408.1,NM_001142417.1,NM_001142435.1,NM_003296.2	46,46,46,46,46	2,98,6403	CC,CT,TT		0.0,2.315,0.7843	benign,benign,benign,benign,benign	131/244,131/244,131/244,131/244,131/244	49666100	102,12904	2203	4300	6503	SO:0001583	missense	7180	exon7			ACTGCATTGGGAC	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.392A>G	6.37:g.49666100T>C	ENSP00000339155:p.Asn131Ser	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	137	59	0.430657	NM_001142408	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	T	9.996	1.232230	0.22626	0.02315	0.0	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.09630	2.96	5.26	-1.44	0.08856	CAP domain (3);	0.986209	0.08313	N	0.965097	T	0.02230	0.0069	L	0.33189	0.99	0.09310	N	1	B;B	0.20052	0.02;0.041	B;B	0.22152	0.038;0.038	T	0.47598	-0.9105	10	0.33940	T	0.23	.	5.0274	0.14393	0.0:0.3052:0.282:0.4128	rs34457011	131;131	Q7Z7B2;P16562	.;CRIS2_HUMAN	S	131	ENSP00000339155:N131S	ENSP00000211238:N131S	N	-	2	0	CRISP2	49774059	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.986000	0.03747	-0.396000	0.07703	-0.379000	0.06801	AAT	T|0.991;C|0.009	0.009	strong		0.408	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		C	49666100	T	C	49666100	3	2	22	1	0	0	0	0	1	0	0	0	3880	1493	52	2	355	2	CRISP2	6	49666100	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	206122	49666100	121448967	3776	8884										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49701439	49701439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtataatgtccaaccactgCgttgggagtctttggcccta	10	10	1	0	rs1864312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49701439C>A	ENST00000393666.1	-	4	406	c.400G>T	c.(400-402)Gca>Tca	p.A134S	CRISP3_ENST00000423399.2_Missense_Mutation_p.A44S|CRISP3_ENST00000371159.4_Missense_Mutation_p.A165S|CRISP3_ENST00000263045.4_Missense_Mutation_p.A147S|CRISP3_ENST00000433368.2_Missense_Mutation_p.A157S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	134	SCP.		A -> S (in dbSNP:rs1864312). {ECO:0000269|PubMed:14702039}.		defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCAACCACTGCGTTGGGAGTC	0.403													C|||	1831	0.365615	0.2579	0.5821	5008	,	,		18832	0.3105		0.4682	False		,,,				2504	0.3088				p.A157S		Atlas-SNP	.											.	CRISP3	67	.	0			c.G469T						PASS	.	C	SER/ALA,SER/ALA	1322,3084	443.9+/-347.2	198,926,1079	121	114	117		469,439	3.2	0	6	dbSNP_92	117	3754,4846	534.0+/-382.5	806,2142,1352	yes	missense,missense	CRISP3	NM_001190986.1,NM_006061.2	99,99	1004,3068,2431	AA,AC,CC		43.6512,30.0045,39.0281	benign,benign	157/269,147/259	49701439	5076,7930	2203	4300	6503	SO:0001583	missense	10321	exon5			CCACTGCGTTGGG	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.400G>T	6.37:g.49701439C>A	ENSP00000377274:p.Ala134Ser	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		877	0.4015567765567766	130	0.26422764227642276	207	0.5718232044198895	184	0.32167832167832167	356	0.46965699208443273	C	7.197	0.592611	0.13875	0.300045	0.436512	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.1	3.18	0.36537	CAP domain (3);	1.214940	0.06207	U	0.684266	T	0.01189	0.0039	N	0.04387	-0.21	0.80722	P	0.0	B	0.27380	0.177	B	0.31751	0.135	T	0.39860	-0.9593	9	0.07813	T	0.8	.	7.8096	0.29223	0.0:0.7193:0.1797:0.1009	rs1864312;rs13192472;rs52804712;rs59808203;rs1864312	134	P54108	CRIS3_HUMAN	S	147;157;134;44;165;157	ENSP00000263045:A147S;ENSP00000389026:A157S;ENSP00000377274:A134S;ENSP00000410469:A44S;ENSP00000360201:A165S;ENSP00000346636:A157S	ENSP00000263045:A147S	A	-	1	0	CRISP3	49809398	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.738000	0.26158	1.146000	0.42352	0.585000	0.79938	GCA	C|0.618;A|0.382	0.382	strong		0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		A	49701439	C	A	49701439	3	1	22	1	0	0	0	0	1	0	0	0	3881	768	27	4	353	4	CRISP3	6	49701439	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35339	49701439	121413628	3777	8885										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49701523	49701523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttgtgaccatgagctggAggcacttgacatgtagagat	13	7	0	4	rs495335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49701523A>G	ENST00000393666.1	-	4	322	c.316T>C	c.(316-318)Tcc>Ccc	p.S106P	CRISP3_ENST00000433368.2_Missense_Mutation_p.S129P|CRISP3_ENST00000263045.4_Missense_Mutation_p.S119P|CRISP3_ENST00000371159.4_Missense_Mutation_p.S137P|CRISP3_ENST00000423399.2_Missense_Mutation_p.S16P			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	106	SCP.		S -> P (in dbSNP:rs495335). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATGAGCTGGAGGCACTTGAC	0.433													G|||	3381	0.67512	0.7383	0.7594	5008	,	,		18918	0.5476		0.6948	False		,,,				2504	0.6411				p.S129P		Atlas-SNP	.											.	CRISP3	67	.	0			c.T385C						PASS	.	G	PRO/SER,PRO/SER	3280,1126	401.5+/-332.0	1205,870,128	149	139	142		385,355	5.1	0	6	dbSNP_83	142	5784,2816	445.5+/-361.0	1947,1890,463	yes	missense,missense	CRISP3	NM_001190986.1,NM_006061.2	74,74	3152,2760,591	GG,GA,AA		32.7442,25.5561,30.3091	benign,benign	129/269,119/259	49701523	9064,3942	2203	4300	6503	SO:0001583	missense	10321	exon5			AGCTGGAGGCACT	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.316T>C	6.37:g.49701523A>G	ENSP00000377274:p.Ser106Pro	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	119	66	0.554622	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		1478	0.6767399267399268	372	0.7560975609756098	273	0.7541436464088398	310	0.541958041958042	523	0.6899736147757256	G	1.963	-0.438361	0.04636	0.744439	0.672558	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.44881	3.06;3.06;3.06;0.91;3.06;3.06	5.1	5.1	0.69264	CAP domain (3);	0.182430	0.34291	N	0.004100	T	0.03305	0.0096	N	0.00500	-1.43	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.02654	T	1	.	9.8183	0.40867	0.0963:0.0:0.9037:0.0	rs495335;rs1771237;rs13192493;rs16879714;rs52821725;rs495335	106	P54108	CRIS3_HUMAN	P	119;129;106;16;137;129	ENSP00000263045:S119P;ENSP00000389026:S129P;ENSP00000377274:S106P;ENSP00000410469:S16P;ENSP00000360201:S137P;ENSP00000346636:S129P	ENSP00000263045:S119P	S	-	1	0	CRISP3	49809482	0.021000	0.18746	0.003000	0.11579	0.001000	0.01503	1.944000	0.40263	1.156000	0.42514	-0.197000	0.12766	TCC	A|0.322;G|0.678	0.678	strong		0.433	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		G	49701523	A	G	49701523	3	3	22	1	0	0	0	0	1	0	0	0	3881	304	11	3	437	3	CRISP3	6	49701523	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84	49701523	121413544	3778	8886										
DEFB110	245913	hgsc.bcm.edu	37	chr6	49989622	49989622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgtgacccaaaagtgcagAataaagaaaaaaagttgaat	8	4	0	4	rs9473719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:49989622A>G	ENST00000371148.2	-	1	72	c.27T>C	c.(25-27)atT>atC	p.I9I	DEFB110_ENST00000393660.2_Silent_p.I9I	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	9					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					AAAAGTGCAGAATAAAGAAAA	0.313													A|||	75	0.014976	0.056	0.0014	5008	,	,		16040	0.0		0.0	False		,,,				2504	0.0				p.I9I		Atlas-SNP	.											.	DEFB110	5	.	0			c.T27C						PASS	.	A	,	200,4202	113.8+/-151.8	5,190,2006	32	36	35		27,27	3.5	1	6	dbSNP_119	35	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	DEFB110	NM_001037497.1,NM_001037728.2	,	5,191,6301	GG,GA,AA		0.0116,4.5434,1.5469	,	9/68,9/63	49989622	201,12793	2201	4296	6497	SO:0001819	synonymous_variant	245913	exon1			GTGCAGAATAAAG	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.27T>C	6.37:g.49989622A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_001037728	Q30KR0	Silent	SNP	ENST00000371148.2	37	CCDS34475.1																																																																																			A|0.986;G|0.014	0.014	strong		0.313	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		G	49989622	A	G	49989622	2	3	22	1	0	0	0	0	0	0	0	1	4400	242	9	2		2	DEFB110	6	49989622	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	288099	49989622	121125445	3779	8887										
PKHD1	5314	hgsc.bcm.edu	37	chr6	51491866	51491866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatgagatgtggatatgaAtattttgattattagtctgg	12	1	1	3	rs2661488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:51491866A>T	ENST00000371117.3	-	66	11989	c.11714T>A	c.(11713-11715)aTt>aAt	p.I3905N		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3905			I -> N (in dbSNP:rs2661488).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGGATATGAATATTTTGATT	0.413													T|||	193	0.0385383	0.0983	0.0259	5008	,	,		18093	0.0		0.0229	False		,,,				2504	0.0225				p.I3905N		Atlas-SNP	.											.	PKHD1	927	.	0			c.T11714A						PASS	.	T	ASN/ILE	406,4000	789.0+/-415.0	20,366,1817	260	260	260		11714	-1.6	0	6	dbSNP_100	260	218,8382	809.6+/-407.2	3,212,4085	yes	missense	PKHD1	NM_138694.3	149	23,578,5902	TT,TA,AA		2.5349,9.2147,4.7978	benign	3905/4075	51491866	624,12382	2203	4300	6503	SO:0001583	missense	5314	exon66			ATATGAATATTTT	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11714T>A	6.37:g.51491866A>T	ENSP00000360158:p.Ile3905Asn	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	236	127	0.538136	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	64	0.029304029304029304	35	0.07113821138211382	9	0.024861878453038673	0	0.0	20	0.026385224274406333	T	0.036	-1.306934	0.01353	0.092147	0.025349	ENSG00000170927	ENST00000371117	D	0.85013	-1.93	5.19	-1.65	0.08291	.	0.956151	0.08677	N	0.910025	T	0.19765	0.0475	N	0.00347	-1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06250	-1.0837	9	0.02654	T	1	.	1.6951	0.02860	0.1334:0.3104:0.1383:0.4179	rs2661488;rs52834645;rs2661488	3905	P08F94	PKHD1_HUMAN	N	3905	ENSP00000360158:I3905N	ENSP00000360158:I3905N	I	-	2	0	PKHD1	51599825	0.076000	0.21285	0.000000	0.03702	0.001000	0.01503	-0.012000	0.12699	-0.625000	0.05604	-2.677000	0.00143	ATT	A|0.959;T|0.041	0.041	strong		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51491866	A	T	51491866	3	4	22	1	0	0	0	0	1	0	0	0	11971	101	4	5	518	5	PKHD1	6	51491866	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1502244	51491866	119623201	3780	8888										
PKHD1	5314	hgsc.bcm.edu	37	chr6	51720838	51720838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctgctgtcagtcatggtTaaatcataagaaacttcagg	8	7	5	1	rs9349603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:51720838T>C	ENST00000371117.3	-	49	8039	c.7764A>G	c.(7762-7764)ttA>ttG	p.L2588L	PKHD1_ENST00000340994.4_Silent_p.L2588L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2588					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTCATGGTTAAATCATAAG	0.383													T|||	2699	0.538938	0.4523	0.5634	5008	,	,		20327	0.8383		0.3191	False		,,,				2504	0.5562				p.L2588L		Atlas-SNP	.											.	PKHD1	927	.	0			c.A7764G						PASS	.	T	,	1903,2503	545.2+/-376.7	428,1047,728	142	147	146		7764,7764	3.8	1	6	dbSNP_119	146	2709,5891	433.8+/-357.5	466,1777,2057	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	894,2824,2785	CC,CT,TT		31.5,43.1911,35.4606	,	2588/4075,2588/3397	51720838	4612,8394	2203	4300	6503	SO:0001819	synonymous_variant	5314	exon49			CATGGTTAAATCA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7764A>G	6.37:g.51720838T>C		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	166	74	0.445783	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			T|0.577;C|0.423	0.423	strong		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51720838	T	C	51720838	2	2	22	1	0	0	0	0	0	0	0	1	11971	1751	61	2		2	PKHD1	6	51720838	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	228972	51720838	119394229	3781	8889										
PAQR8	85315	hgsc.bcm.edu	37	chr6	52269046	52269046	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccttctgaggcacaaagtCaaggccagactgaccaagaa	10	12	2	4	rs3799274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:52269046C>G	ENST00000442253.2	+	2	1209	c.1035C>G	c.(1033-1035)gtC>gtG	p.V345V	PAQR8_ENST00000360726.3_Silent_p.V345V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	345					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)					GGCACAAAGTCAAGGCCAGAC	0.547													C|||	592	0.118211	0.2133	0.1009	5008	,	,		19598	0.0327		0.1402	False		,,,				2504	0.0675				p.V345V		Atlas-SNP	.											PAQR8,NS,carcinoma,0,1	PAQR8	31	1	0			c.C1035G						PASS	.	C		819,3587		78,663,1462	20	19	19		1035	4.6	1	6	dbSNP_107	19	1123,7477		81,961,3258	no	coding-synonymous	PAQR8	NM_133367.4		159,1624,4720	GG,GC,CC		13.0581,18.5883,14.9316		345/355	52269046	1942,11064	2203	4300	6503	SO:0001819	synonymous_variant	85315	exon2			CAAAGTCAAGGCC	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.1035C>G	6.37:g.52269046C>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	92	45	0.48913	NM_133367	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	CCDS4941.1																																																																																			T|0.000;G|0.131;C|0.869	0.131	strong		0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		G	52269046	C	G	52269046	2	3	22	1	0	0	0	0	0	0	0	1	11441	813	29	4		4	PAQR8	6	52269046	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	548208	52269046	118846021	3782	8890										
EFHC1	114327	hgsc.bcm.edu	37	chr6	52343899	52343899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttactttctagctaccgacaTgatcagtatctttgagcctc	6	11	3	2	rs1266787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:52343899T>C	ENST00000371068.5	+	8	1446	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	EFHC1_ENST00000433625.2_Missense_Mutation_p.M357T|EFHC1_ENST00000538167.1_Missense_Mutation_p.M429T	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	448	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.		M -> T (in dbSNP:rs1266787). {ECO:0000269|PubMed:17159113}.			axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GCTACCGACATGATCAGTATC	0.433													T|||	362	0.0722843	0.2194	0.0317	5008	,	,		20846	0.0		0.0408	False		,,,				2504	0.0092				p.M448T		Atlas-SNP	.											.	EFHC1	68	.	0			c.T1343C						PASS	.	T	THR/MET,THR/MET	864,3542	338.6+/-305.4	90,684,1429	138	128	132		1286,1343	3.6	1	6	dbSNP_87	132	256,8344	100.6+/-161.9	6,244,4050	yes	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	81,81	96,928,5479	CC,CT,TT		2.9767,19.6096,8.6114	benign,benign	429/622,448/641	52343899	1120,11886	2203	4300	6503	SO:0001583	missense	114327	exon8			CCGACATGATCAG	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1343T>C	6.37:g.52343899T>C	ENSP00000360107:p.Met448Thr	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	104	49	0.471154	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	143	0.06547619047619048	102	0.2073170731707317	10	0.027624309392265192	0	0.0	31	0.040897097625329816	T	9.035	0.988215	0.18966	0.196096	0.029767	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.20598	2.06;2.06;2.06	5.89	3.56	0.40772	Uncharacterised domain DM10 (2);	0.239792	0.56097	N	0.000036	T	0.02193	0.0068	N	0.04090	-0.28	0.26521	P	0.9744209	B;B;B	0.22003	0.063;0.003;0.001	B;B;B	0.21360	0.034;0.015;0.004	T	0.41752	-0.9491	9	0.02654	T	1	-5.8112	9.4922	0.38967	0.0:0.2001:0.0:0.7999	rs1266787;rs1266787	429;357;448	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	T	448;357;429	ENSP00000360107:M448T;ENSP00000416492:M357T;ENSP00000444521:M429T	ENSP00000360107:M448T	M	+	2	0	EFHC1	52451858	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.699000	0.47077	1.066000	0.40716	0.477000	0.44152	ATG	A|0.004;C|0.085	0.085	strong		0.433	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		C	52343899	T	C	52343899	3	2	22	1	0	0	0	0	1	0	0	0	4946	1464	51	2	1383	2	EFHC1	6	52343899	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74853	52343899	118771168	3783	8891										
GSTA2	2939	hgsc.bcm.edu	37	chr6	52615415	52615415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgattcttctaaagatttcTcatccatgggaggcttcctt	7	9	3	2	rs6577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:52615415T>G	ENST00000493422.1	-	7	784	c.629A>C	c.(628-630)gAg>gCg	p.E210A		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	210			E -> A (in dbSNP:rs6577). {ECO:0000269|PubMed:11668220, ECO:0000269|PubMed:1329668, ECO:0000269|PubMed:1497629}.		epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.E210A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TAAAGATTTCTCATCCATGGG	0.423													.|||	1326	0.264776	0.6967	0.0951	5008	,	,		18235	0.1825		0.0616	False		,,,				2504	0.0951				p.E210A		Atlas-SNP	.											GSTA2,NS,carcinoma,0,1	GSTA2	33	1	1	Substitution - Missense(1)	stomach(1)	c.A629C						PASS	.	G	ALA/GLU	2648,1758		805,1038,360	125	127	126		629	-0.1	0	6	dbSNP_52	126	491,8109		24,443,3833	no	missense	GSTA2	NM_000846.4	107	829,1481,4193	GG,GT,TT		5.7093,39.9001,24.135	benign	210/223	52615415	3139,9867	2203	4300	6503	SO:0001583	missense	2939	exon7			GATTTCTCATCCA	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.629A>C	6.37:g.52615415T>G	ENSP00000420168:p.Glu210Ala	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	154	154	1	NM_000846	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	522	0.23901098901098902	343	0.6971544715447154	34	0.09392265193370165	96	0.16783216783216784	49	0.06464379947229551	N	2.795	-0.250392	0.05867	0.600999	0.057093	ENSG00000244067	ENST00000493422	T	0.11821	2.74	2.32	-0.126	0.13515	Glutathione S-transferase, C-terminal-like (1);	0.422288	0.21606	N	0.071873	T	0.02083	0.0065	L	0.28344	0.845	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47947	-0.9077	9	0.18710	T	0.47	.	5.1576	0.15044	0.0:0.133:0.1938:0.6733	rs6577;rs769234;rs1051972;rs1052135;rs2257319;rs3175125;rs52833466;rs57487028;rs6577	210	P09210	GSTA2_HUMAN	A	210	ENSP00000420168:E210A	ENSP00000420168:E210A	E	-	2	0	GSTA2	52723374	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.890000	0.04140	-0.196000	0.10366	-0.703000	0.03666	GAG	T|0.753;G|0.247	0.247	strong		0.423	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		G	52615415	T	G	52615415	3	3	22	1	0	0	0	0	1	0	0	0	6831	1551	54	5	43	5	GSTA2	6	52615415	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	271516	52615415	118499652	3784	8892										
GCLC	2729	hgsc.bcm.edu	37	chr6	53365102	53365102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactcctctgcagcgagctcCgtgctgttctgggccttgcc	11	15	2	0	rs17881359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:53365102C>T	ENST00000229416.6	-	14	2007	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	508					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CAGCGAGCTCCGTGCTGTTCT	0.567													C|||	28	0.00559105	0.0204	0.0014	5008	,	,		18765	0.0		0.0	False		,,,				2504	0.0				p.T508T		Atlas-SNP	.											.	GCLC	58	.	0			c.G1524A						PASS	.	C	,	76,4330	67.0+/-104.6	0,76,2127	148	129	136		1410,1524	-10.5	0	6	dbSNP_124	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GCLC	NM_001197115.1,NM_001498.3	,	0,76,6427	TT,TC,CC		0.0,1.7249,0.5843	,	470/600,508/638	53365102	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	2729	exon14			GAGCTCCGTGCTG	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1524G>A	6.37:g.53365102C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_001498	Q14399	Silent	SNP	ENST00000229416.6	37	CCDS4952.1																																																																																			C|0.994;T|0.006	0.006	strong		0.567	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			T	53365102	C	T	53365102	2	4	22	1	0	0	0	0	0	0	0	1	6295	639	23	1		1	GCLC	6	53365102	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	749687	53365102	117749965	3785	8893										
KLHL31	401265	hgsc.bcm.edu	37	chr6	53517035	53517035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgttgcggccgcccgcggcGtacacgagcccgttgaacac	14	16	0	1	rs3823111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:53517035G>A	ENST00000407079.1	-	2	1265	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	KLHL31_ENST00000370905.3_Silent_p.Y422Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGCCCGCGGCGTACACGAGCC	0.637													G|||	663	0.132388	0.121	0.0937	5008	,	,		16333	0.2163		0.0596	False		,,,				2504	0.1636				p.Y422Y		Atlas-SNP	.											KLHL31,NS,carcinoma,-2,1	KLHL31	48	1	0			c.C1266T						PASS	.	G		475,3931	222.0+/-238.9	26,423,1754	56	58	57		1266	4.6	1	6	dbSNP_107	57	558,8042	151.6+/-206.3	17,524,3759	no	coding-synonymous	KLHL31	NM_001003760.4		43,947,5513	AA,AG,GG		6.4884,10.7808,7.9425		422/635	53517035	1033,11973	2203	4300	6503	SO:0001819	synonymous_variant	401265	exon3			CGCGGCGTACACG		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1266C>T	6.37:g.53517035G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	94	62	0.659574	NM_001003760	A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	CCDS34478.1																																																																																			G|0.903;A|0.097	0.097	strong		0.637	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53517035	G	A	53517035	2	1	22	1	0	0	0	0	0	0	0	1	8385	1140	40	1		1	KLHL31	6	53517035	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	151933	53517035	117598032	3786	8894										
TINAG	27283	hgsc.bcm.edu	37	chr6	54254589	54254589	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttgtttgtttttctgcagAttgctgccaattcctgggga	11	7	1	1	rs3736352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:54254589A>C	ENST00000259782.4	+	11	1393	c.1297A>C	c.(1297-1299)Att>Ctt	p.I433L		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	433			I -> L (in dbSNP:rs3736352).		cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTCTGCAGATTGCTGCCAA	0.363													A|||	561	0.112021	0.0998	0.0259	5008	,	,		18323	0.3145		0.0467	False		,,,				2504	0.0481				p.I433L		Atlas-SNP	.											.	TINAG	102	.	0			c.A1297C						PASS	.	A	LEU/ILE	359,4047	183.3+/-210.9	14,331,1858	107	105	106		1297	0.5	1	6	dbSNP_107	106	283,8317	106.2+/-167.1	8,267,4025	yes	missense-near-splice	TINAG	NM_014464.3	5	22,598,5883	CC,CA,AA		3.2907,8.148,4.9362	benign	433/477	54254589	642,12364	2203	4300	6503	SO:0001630	splice_region_variant	27283	exon11			CTGCAGATTGCTG	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1297-1A>C	6.37:g.54254589A>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	29	0.54717	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	260	0.11904761904761904	49	0.09959349593495935	11	0.03038674033149171	167	0.291958041958042	33	0.04353562005277045	A	10.87	1.473884	0.26423	0.08148	0.032907	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.88201	-2.35	5.89	0.524	0.17066	Peptidase C1A, papain C-terminal (2);	0.339136	0.28946	N	0.013634	T	0.57080	0.2029	N	0.10733	0.035	0.09310	P	0.9999999999999842	P	0.35192	0.489	B	0.34590	0.186	T	0.48559	-0.9025	8	.	.	.	.	7.9067	0.29765	0.6357:0.0:0.3643:0.0	rs3736352;rs52789794;rs3736352	433	Q9UJW2	TINAG_HUMAN	L	292;433;112	ENSP00000259782:I433L	.	I	+	1	0	TINAG	54362548	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	1.757000	0.38400	0.086000	0.17137	-0.346000	0.07831	ATT	A|0.919;C|0.081	0.081	strong		0.363	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	Missense_Mutation	C	54254589	A	C	54254589	5	2	22	1	0	0	0	0	0	0	1	0	15918	347	12	5	1339	5	TINAG	6	54254589	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	737554	54254589	116860478	3787	8895										
FAM83B	222584	hgsc.bcm.edu	37	chr6	54805074	54805074	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacgggaaggctatgtaagCcaccacaacacacctgccca	8	15	1	0	rs9475076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:54805074C>G	ENST00000306858.7	+	5	1421	c.1305C>G	c.(1303-1305)agC>agG	p.S435R	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	435			S -> R (in dbSNP:rs9475076).							autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCTATGTAAGCCACCACAACA	0.448													C|||	288	0.057508	0.2088	0.0144	5008	,	,		18486	0.0		0.002	False		,,,				2504	0.0				p.S435R		Atlas-SNP	.											.	FAM83B	186	.	0			c.C1305G						PASS	.	C	ARG/SER	795,3611	321.0+/-296.9	67,661,1475	65	69	67		1305	0.8	0	6	dbSNP_119	67	16,8584	10.5+/-38.8	0,16,4284	yes	missense	FAM83B	NM_001010872.1	110	67,677,5759	GG,GC,CC		0.186,18.0436,6.2356	benign	435/1012	54805074	811,12195	2203	4300	6503	SO:0001583	missense	222584	exon5			TGTAAGCCACCAC	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1305C>G	6.37:g.54805074C>G	ENSP00000304078:p.Ser435Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	110	54	0.490909	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	112	0.05128205128205128	105	0.21341463414634146	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	C	1.045	-0.677640	0.03378	0.180436	0.00186	ENSG00000168143	ENST00000306858	T	0.08546	3.08	5.56	0.802	0.18686	.	1.270360	0.05003	N	0.469411	T	0.02807	0.0084	L	0.47716	1.5	0.80722	P	0.0	P	0.34780	0.468	B	0.27500	0.08	T	0.43572	-0.9383	9	0.42905	T	0.14	-0.061	9.8787	0.41220	0.0:0.4374:0.0:0.5626	rs9475076;rs52793316;rs9475076	435	Q5T0W9	FA83B_HUMAN	R	435	ENSP00000304078:S435R	ENSP00000304078:S435R	S	+	3	2	FAM83B	54913033	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.071000	0.14594	-0.074000	0.12820	-0.137000	0.14449	AGC	C|0.945;G|0.055	0.055	strong		0.448	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54805074	C	G	54805074	3	3	22	1	0	0	0	0	1	0	0	0	5634	738	26	4	1319	4	FAM83B	6	54805074	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	550485	54805074	116309993	3788	8896										
FAM83B	222584	hgsc.bcm.edu	37	chr6	54805688	54805688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaaataactatatatataAaaccttgggtgtaaataagc	5	5	1	0	rs239798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:54805688A>C	ENST00000306858.7	+	5	2035	c.1919A>C	c.(1918-1920)aAa>aCa	p.K640T	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	640			K -> T (in dbSNP:rs239798). {ECO:0000269|PubMed:15489334}.					p.K640T(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATATATATAAAACCTTGGGT	0.373													C|||	1450	0.289537	0.7065	0.1715	5008	,	,		17944	0.0337		0.1511	False		,,,				2504	0.2157				p.K640T		Atlas-SNP	.											FAM83B,NS,carcinoma,0,1	FAM83B	186	1	1	Substitution - Missense(1)	prostate(1)	c.A1919C						PASS	.	C	THR/LYS	2674,1722		823,1028,347	41	43	42		1919	4.7	0.1	6	dbSNP_79	42	1438,7156		105,1228,2964	yes	missense	FAM83B	NM_001010872.1	78	928,2256,3311	CC,CA,AA		16.7326,39.172,31.6551	benign	640/1012	54805688	4112,8878	2198	4297	6495	SO:0001583	missense	222584	exon5			TATATAAAACCTT	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1919A>C	6.37:g.54805688A>C	ENSP00000304078:p.Lys640Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	548	0.2509157509157509	350	0.7113821138211383	73	0.20165745856353592	13	0.022727272727272728	112	0.14775725593667546	C	0.755	-0.771342	0.02951	0.60828	0.167326	ENSG00000168143	ENST00000306858	T	0.27557	1.66	5.55	4.66	0.58398	.	0.865524	0.10264	N	0.695617	T	0.02342	0.0072	N	0.00146	-1.995	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	9	0.09590	T	0.72	-7.5696	15.0301	0.71698	0.2604:0.7396:0.0:0.0	rs239798;rs52808658;rs57244784;rs239798	640	Q5T0W9	FA83B_HUMAN	T	640	ENSP00000304078:K640T	ENSP00000304078:K640T	K	+	2	0	FAM83B	54913647	0.528000	0.26314	0.067000	0.19924	0.901000	0.52897	4.107000	0.57811	0.801000	0.34066	-0.121000	0.15023	AAA	A|0.690;C|0.310	0.310	strong		0.373	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54805688	A	C	54805688	3	2	22	1	0	0	0	0	1	0	0	0	5634	14	1	5	1933	5	FAM83B	6	54805688	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	614	54805688	116309379	3789	8897										
FAM83B	222584	hgsc.bcm.edu	37	chr6	54806379	54806379	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataaaagaacaccttctccAggtccagttgaaagcaagtt	7	9	1	2	rs17678648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:54806379A>G	ENST00000306858.7	+	5	2726	c.2610A>G	c.(2608-2610)ccA>ccG	p.P870P	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	870										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CACCTTCTCCAGGTCCAGTTG	0.433													A|||	148	0.0295527	0.0219	0.0389	5008	,	,		20220	0.0		0.0557	False		,,,				2504	0.0368				p.P870P		Atlas-SNP	.											.	FAM83B	186	.	0			c.A2610G						PASS	.	A		118,4288	86.8+/-125.4	1,116,2086	61	58	59		2610	1.8	0	6	dbSNP_123	59	546,8054	148.5+/-203.7	15,516,3769	no	coding-synonymous	FAM83B	NM_001010872.1		16,632,5855	GG,GA,AA		6.3488,2.6782,5.1053		870/1012	54806379	664,12342	2203	4300	6503	SO:0001819	synonymous_variant	222584	exon5			TTCTCCAGGTCCA	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2610A>G	6.37:g.54806379A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	117	51	0.435897	NM_001010872	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																			A|0.956;G|0.044	0.044	strong		0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54806379	A	G	54806379	2	3	22	1	0	0	0	0	0	0	0	1	5634	175	7	3		3	FAM83B	6	54806379	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	691	54806379	116308688	3790	8898										
GFRAL	389400	hgsc.bcm.edu	37	chr6	55196587	55196587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttaagagagcaatgcttaCgtgatgcaaatggatgtaaa	10	4	0	2	rs12199003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:55196587C>T	ENST00000340465.2	+	2	183	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	33			R -> C (in dbSNP:rs12199003).		negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAATGCTTACGTGATGCAAA	0.343													C|||	2078	0.414936	0.4312	0.2594	5008	,	,		17227	0.3056		0.3728	False		,,,				2504	0.6595				p.R33C		Atlas-SNP	.											.	GFRAL	91	.	0			c.C97T						PASS	.	C	CYS/ARG	1778,2628	525.5+/-371.6	355,1068,780	110	100	104		97	1.1	0	6	dbSNP_120	104	3122,5478	475.7+/-369.2	576,1970,1754	yes	missense	GFRAL	NM_207410.2	180	931,3038,2534	TT,TC,CC		36.3023,40.3541,37.6749	benign	33/395	55196587	4900,8106	2203	4300	6503	SO:0001583	missense	389400	exon2			TGCTTACGTGATG	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.97C>T	6.37:g.55196587C>T	ENSP00000343636:p.Arg33Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	86	36	0.418605	NM_207410	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	750	0.3434065934065934	207	0.42073170731707316	104	0.287292817679558	155	0.270979020979021	284	0.37467018469656993	C	4.744	0.138430	0.09083	0.403541	0.363023	ENSG00000187871	ENST00000340465	T	0.32023	1.47	4.92	1.07	0.20283	GDNF/GAS1 (1);	0.763973	0.12676	N	0.448376	T	0.04363	0.0120	N	0.08118	0	0.80722	P	0.0	P	0.40302	0.712	B	0.33042	0.157	T	0.25882	-1.0119	9	0.54805	T	0.06	-4.7752	5.4581	0.16602	0.5391:0.365:0.0959:0.0	rs12199003;rs52831854;rs57201493;rs12199003	33	Q6UXV0	GFRAL_HUMAN	C	33	ENSP00000343636:R33C	ENSP00000343636:R33C	R	+	1	0	GFRAL	55304546	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	0.179000	0.16840	-0.047000	0.13423	-0.518000	0.04402	CGT	C|0.627;T|0.373	0.373	strong		0.343	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		T	55196587	C	T	55196587	3	4	22	1	0	0	0	0	1	0	0	0	6351	536	19	1	103	1	GFRAL	6	55196587	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	390208	55196587	115918480	3791	8899										
COL21A1	81578	hgsc.bcm.edu	37	chr6	55925698	55925698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatacatacgggcttcccAtccaaacctgggggtccctg	10	13	0	1	rs545860371		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:55925698A>C	ENST00000244728.5	-	26	2740	c.2343T>G	c.(2341-2343)gaT>gaG	p.D781E	COL21A1_ENST00000535941.1_Missense_Mutation_p.D781E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.D181E|COL21A1_ENST00000370819.1_Missense_Mutation_p.D778E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	781	Collagen-like 5.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGGCTTCCCATCCAAACCTG	0.473													A|||	1	0.000199681	0.0	0.0	5008	,	,		15984	0.001		0.0	False		,,,				2504	0.0				p.D781E		Atlas-SNP	.											.	COL21A1	201	.	0			c.T2343G						PASS	.						44	43	43					6																	55925698		1837	4081	5918	SO:0001583	missense	81578	exon26			CTTCCCATCCAAA	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2343T>G	6.37:g.55925698A>C	ENSP00000244728:p.Asp781Glu	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	92	23	0.25	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513616	0.27123	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.16	4.9	3.74	0.42951	.	0.191909	0.35739	N	0.003010	T	0.80336	0.4604	N	0.25201	0.72	0.32304	N	0.56468	D;D;P;D	0.57571	0.975;0.98;0.789;0.98	P;P;B;P	0.52454	0.573;0.699;0.444;0.699	T	0.75255	-0.3382	10	0.07644	T	0.81	.	4.3365	0.11089	0.6951:0.0:0.1586:0.1463	.	181;781;781;138	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	E	781;778;781;778;181	ENSP00000244728:D781E;ENSP00000359855:D778E;ENSP00000444384:D781E;ENSP00000359844:D181E	ENSP00000244728:D781E	D	-	3	2	COL21A1	56033657	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	1.167000	0.31847	0.830000	0.34757	0.533000	0.62120	GAT	.	.	none		0.473	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			C	55925698	A	C	55925698	3	2	22	1	0	0	0	0	1	0	0	0	3680	214	8	5	550	5	COL21A1	6	55925698	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	729111	55925698	115189369	3792	8900										
DST	667	hgsc.bcm.edu	37	chr6	56483852	56483852	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttttgcttaaattcactTaccaaattttgacttttcgc	3	10	1	1	rs2230863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:56483852T>G	ENST00000370765.6	-	23	5087	c.4980A>C	c.(4978-4980)gtA>gtC	p.V1660V	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3730					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAAATTCACTTACCAAATTTT	0.353													T|||	185	0.0369409	0.1218	0.0029	5008	,	,		19604	0.0198		0.002	False		,,,				2504	0.0				p.V1660V		Atlas-SNP	.											.	DST	1427	.	0			c.A4980C						PASS	.	T	,	432,3974	209.8+/-230.5	20,392,1791	121	130	127		4980,	-7.7	0.8	6	dbSNP_98	127	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous,intron	DST	NM_001723.5,NM_015548.4	,	20,402,6081	GG,GT,TT		0.1163,9.8048,3.3984	,	1660/2650,	56483852	442,12564	2203	4300	6503	SO:0001819	synonymous_variant	667	exon23			TTCACTTACCAAA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4980A>C	6.37:g.56483852T>G		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	205	103	0.502439	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																			T|0.957;G|0.043	0.043	strong		0.353	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		G	56483852	T	G	56483852	2	3	22	1	0	0	0	0	0	0	0	1	4783	1741	61	5		5	DST	6	56483852	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	558154	56483852	114631215	3793	8901										
DST	667	hgsc.bcm.edu	37	chr6	56505063	56505063	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggatctgcatcaacttcaAagtttgcaatgaatttggct	8	8	3	1	rs2144407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:56505063A>G	ENST00000361203.3	-	14	1742	c.1735T>C	c.(1735-1737)Ttg>Ctg	p.L579L	DST_ENST00000312431.6_Silent_p.L579L|DST_ENST00000370788.2_Silent_p.L579L|DST_ENST00000421834.2_Silent_p.L579L|DST_ENST00000370769.4_Silent_p.L579L|DST_ENST00000244364.6_Silent_p.L253L|DST_ENST00000370754.5_Silent_p.L757L|DST_ENST00000370765.6_Silent_p.L253L|DST_ENST00000518935.1_Silent_p.L253L|DST_ENST00000446842.2_Silent_p.L253L			Q03001	DYST_HUMAN	dystonin	579					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAACTTCAAAGTTTGCAAT	0.388													G|||	660	0.131789	0.4281	0.0418	5008	,	,		19856	0.0179		0.0288	False		,,,				2504	0.0184				p.L253L		Atlas-SNP	.											.	DST	1427	.	0			c.T757C						PASS	.	G	,	1704,2702	651.3+/-399.2	335,1034,834	76	79	78		757,757	4.9	0.9	6	dbSNP_96	78	381,8219	801.6+/-407.4	10,361,3929	no	coding-synonymous,coding-synonymous	DST	NM_001723.5,NM_015548.4	,	345,1395,4763	GG,GA,AA		4.4302,38.6745,16.0311	,	253/2650,253/5172	56505063	2085,10921	2203	4300	6503	SO:0001819	synonymous_variant	667	exon4			ACTTCAAAGTTTG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1735T>C	6.37:g.56505063A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	158	74	0.468354	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																				A|0.854;C|0.000;G|0.146	0.146	strong		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56505063	A	G	56505063	2	3	22	1	0	0	0	0	0	0	0	1	4783	11	1	2		2	DST	6	56505063	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21211	56505063	114610004	3794	8902										
DST	667	hgsc.bcm.edu	37	chr6	56507489	56507489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttggaccacaatgaaccAagagaagattttcatttgaa	9	6	1	4	rs1024196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:56507489A>G	ENST00000244364.6	-	1	305	c.98T>C	c.(97-99)tTg>tCg	p.L33S	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370765.6_Missense_Mutation_p.L33S|DST_ENST00000518935.1_Missense_Mutation_p.L33S|DST_ENST00000446842.2_Missense_Mutation_p.L33S	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACAATGAACCAAGAGAAGATT	0.398													G|||	660	0.131789	0.4281	0.0418	5008	,	,		21129	0.0179		0.0288	False		,,,				2504	0.0184				p.L33S		Atlas-SNP	.											.	DST	1427	.	0			c.T98C						PASS	.	G	SER/LEU,SER/LEU	1704,2702	652.5+/-399.4	335,1034,834	127	116	120		98,98	5.9	0.9	6	dbSNP_86	120	379,8221	802.5+/-407.3	9,361,3930	yes	missense,missense	DST	NM_001723.5,NM_015548.4	145,145	344,1395,4764	GG,GA,AA		4.407,38.6745,16.0157	,	33/2650,33/5172	56507489	2083,10923	2203	4300	6503	SO:0001583	missense	667	exon1			TGAACCAAGAGAA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.98T>C	6.37:g.56507489A>G	ENSP00000244364:p.Leu33Ser	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	160	72	0.45	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1	258	0.11813186813186813	214	0.4349593495934959	17	0.04696132596685083	9	0.015734265734265736	18	0.023746701846965697	G	5.858	0.342578	0.11069	0.386745	0.04407	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.75154	1.07;0.87;-0.39;-0.91;-0.38	5.86	5.86	0.93980	.	.	.	.	.	T	0.29850	0.0746	N	0.02011	-0.69	0.20307	P	0.999917	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	0.14952	-1.0454	8	0.12430	T	0.62	.	15.6237	0.76833	0.0658:0.0:0.9342:0.0	rs1024196;rs58963769;rs1024196	33;33;33;33	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	S	33	ENSP00000244364:L33S;ENSP00000393645:L33S;ENSP00000404924:L33S;ENSP00000359801:L33S;ENSP00000431003:L33S	ENSP00000244364:L33S	L	-	2	0	DST	56615448	1.000000	0.71417	0.901000	0.35422	0.306000	0.27790	5.320000	0.65841	1.638000	0.50547	-0.128000	0.14901	TTG	A|0.848;G|0.152	0.152	strong		0.398	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		G	56507489	A	G	56507489	3	3	22	1	0	0	0	0	1	0	0	0	4783	131	5	2	20393	2	DST	6	56507489	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2426	56507489	114607578	3795	8903										
KHDRBS2	202559	hgsc.bcm.edu	37	chr6	62442604	62442604	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctttgtgtttgggtcgcAtagctgttatcataagtctc	9	8	2	0	rs10484690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:62442604A>G	ENST00000281156.4	-	7	1154	c.876T>C	c.(874-876)taT>taC	p.Y292Y		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTTGGGTCGCATAGCTGTTAT	0.383													A|||	1957	0.390775	0.6218	0.3242	5008	,	,		17006	0.3046		0.2813	False		,,,				2504	0.3272				p.Y292Y		Atlas-SNP	.											.	KHDRBS2	103	.	0			c.T876C						PASS	.	A		2511,1895	629.1+/-395.2	731,1049,423	191	184	187		876	3.2	1	6	dbSNP_119	187	2637,5963	426.4+/-355.3	402,1833,2065	no	coding-synonymous	KHDRBS2	NM_152688.2		1133,2882,2488	GG,GA,AA		30.6628,43.0095,39.5817		292/350	62442604	5148,7858	2203	4300	6503	SO:0001819	synonymous_variant	202559	exon7			GGTCGCATAGCTG	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.876T>C	6.37:g.62442604A>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	178	79	0.44382	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1																																																																																			A|0.601;G|0.399	0.399	strong		0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		G	62442604	A	G	62442604	2	3	22	1	0	0	0	0	0	0	0	1	8147	224	8	2		2	KHDRBS2	6	62442604	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5935115	62442604	108672463	3796	8904										
LGSN	51557	hgsc.bcm.edu	37	chr6	64004905	64004905	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgtccttcttaatgtgtTcatgctgttggcttcagtct	8	10	4	0	rs2459568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:64004905T>A	ENST00000370657.4	-	2	109	c.76A>T	c.(76-78)Aac>Tac	p.N26Y	LGSN_ENST00000370658.5_Missense_Mutation_p.N26Y			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	26			N -> Y (in dbSNP:rs2459568).		glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTAATGTGTTCATGCTGTTG	0.343													T|||	68	0.0135783	0.0499	0.0029	5008	,	,		18219	0.0		0.0	False		,,,				2504	0.0				p.N26Y		Atlas-SNP	.											.	LGSN	82	.	0			c.A76T						PASS	.	T	TYR/ASN,TYR/ASN	174,4232	114.2+/-152.2	4,166,2033	267	240	249		76,76	1.8	0	6	dbSNP_100	249	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	LGSN	NM_001143940.1,NM_016571.2	143,143	4,169,6330	AA,AT,TT		0.0349,3.9492,1.3609	benign,benign	26/209,26/510	64004905	177,12829	2203	4300	6503	SO:0001583	missense	51557	exon2			ATGTGTTCATGCT	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.76A>T	6.37:g.64004905T>A	ENSP00000359691:p.Asn26Tyr	Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	362	163	0.450276	NM_016571	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	T	2.447	-0.327180	0.05350	0.039492	3.49E-4	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.26660	1.72;1.83	4.71	1.8	0.24995	.	0.346161	0.36409	N	0.002618	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.0	T	0.41142	-0.9525	10	0.46703	T	0.11	-6.0146	7.4053	0.26987	0.498:0.0:0.0:0.502	rs2459568;rs52826076;rs2459568	26;26;26	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	Y	26	ENSP00000359692:N26Y;ENSP00000359691:N26Y	ENSP00000359691:N26Y	N	-	1	0	LGSN	64062864	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	0.975000	0.29449	0.746000	0.32786	-0.403000	0.06358	AAC	T|0.988;A|0.012	0.012	strong		0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		A	64004905	T	A	64004905	3	1	22	1	0	0	0	0	1	0	0	0	8759	1783	62	5	1465	5	LGSN	6	64004905	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1562301	64004905	107110162	3797	8905										
PTP4A1	7803	hgsc.bcm.edu	37	chr6	64289968	64289968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttttcctcccagaaagcgGcgtggagcttttaacagcaa	9	10	0	1	rs1618240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:64289968G>T	ENST00000370651.3	+	6	1564	c.411G>T	c.(409-411)cgG>cgT	p.R137R	PTP4A1_ENST00000370650.2_Silent_p.R112R	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	137	Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CCAGAAAGCGGCGTGGAGCTT	0.403													G|||	100	0.0199681	0.0741	0.0029	5008	,	,		16055	0.0		0.0	False		,,,				2504	0.0				p.R137R	Pancreas(91;1019 1502 28028 38110 51645)	Atlas-SNP	.											.	PTP4A1	13	.	0			c.G411T						PASS	.	G		253,4153	143.5+/-178.5	12,229,1962	85	87	87		411	4	1	6	dbSNP_89	87	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PTP4A1	NM_003463.3		12,232,6259	TT,TG,GG		0.0349,5.7422,1.9683		137/174	64289968	256,12750	2203	4300	6503	SO:0001819	synonymous_variant	7803	exon6			AAAGCGGCGTGGA	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.411G>T	6.37:g.64289968G>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	29	16	0.551724	NM_003463	B2R6C8|O00648|Q49A54	Silent	SNP	ENST00000370651.3	37	CCDS4965.1																																																																																			G|0.980;T|0.020	0.020	strong		0.403	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2			T	64289968	G	T	64289968	2	4	22	1	0	0	0	0	0	0	0	1	12770	1190	42	4		4	PTP4A1	6	64289968	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	285063	64289968	106825099	3798	8906										
PTP4A1	7803	hgsc.bcm.edu	37	chr6	64289996	64289996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttaacagcaagcaacttCtgtatttggagaagtatcgt	8	7	1	1	rs1681943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:64289996C>T	ENST00000370651.3	+	6	1592	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	PTP4A1_ENST00000370650.2_Silent_p.L122L	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	147	Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAAGCAACTTCTGTATTTGGA	0.393													c|||	111	0.0221645	0.0825	0.0029	5008	,	,		16877	0.0		0.0	False		,,,				2504	0.0				p.L147L	Pancreas(91;1019 1502 28028 38110 51645)	Atlas-SNP	.											.	PTP4A1	13	.	0			c.C439T						PASS	.	C		303,4103	162.2+/-194.2	14,275,1914	101	101	101		439	-0.7	1	6	dbSNP_89	101	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	PTP4A1	NM_003463.3		14,278,6211	TT,TC,CC		0.0349,6.877,2.3528		147/174	64289996	306,12700	2203	4300	6503	SO:0001819	synonymous_variant	7803	exon6			CAACTTCTGTATT	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.439C>T	6.37:g.64289996C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	42	23	0.547619	NM_003463	B2R6C8|O00648|Q49A54	Silent	SNP	ENST00000370651.3	37	CCDS4965.1																																																																																			C|0.980;T|0.020	0.020	strong		0.393	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2			T	64289996	C	T	64289996	2	4	22	1	0	0	0	0	0	0	0	1	12770	912	32	2		2	PTP4A1	6	64289996	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28	64289996	106825071	3799	8907										
EYS	346007	hgsc.bcm.edu	37	chr6	65622463	65622463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttatgaagtaggtcacaaAggttatagcgttggtggcaa	14	4	1	1	rs9294631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:65622463A>G	ENST00000370621.3	-	16	3081	c.2555T>C	c.(2554-2556)cTt>cCt	p.L852P	EYS_ENST00000503581.1_Missense_Mutation_p.L852P|EYS_ENST00000370616.2_Missense_Mutation_p.L852P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	852	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.		L -> P (in dbSNP:rs9294631).		detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAGGTCACAAAGGTTATAGCG	0.408													G|||	3237	0.646366	0.9274	0.6239	5008	,	,		15500	0.4177		0.5835	False		,,,				2504	0.5828				p.L852P		Atlas-SNP	.											.	EYS	527	.	0			c.T2555C						PASS	.	G	PRO/LEU	1215,169		535,145,12	178	149	157		2555	3.1	0.6	6	dbSNP_119	157	1831,1351		525,781,285	yes	missense	EYS	NM_001142800.1	98	1060,926,297	GG,GA,AA		42.4576,12.211,33.2895	probably-damaging	852/3145	65622463	3046,1520	692	1591	2283	SO:0001583	missense	346007	exon16			TCACAAAGGTTAT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2555T>C	6.37:g.65622463A>G	ENSP00000359655:p.Leu852Pro	Somatic	246	1	0.00406504		WXS	Illumina HiSeq	Phase_I	283	283	1	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		1335	0.6112637362637363	454	0.9227642276422764	214	0.5911602209944752	232	0.40559440559440557	435	0.5738786279683378	G	0.115	-1.133005	0.01756	0.87789	0.575424	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.71698	-0.59;-0.59;-0.59	5.0	3.08	0.35506	.	0.870241	0.09380	N	0.810023	T	0.14787	0.0357	N	0.01624	-0.795	0.09310	P	0.9999999999999973	B	0.02656	0.0	B	0.01281	0.0	T	0.10019	-1.0648	9	0.07482	T	0.82	.	5.6412	0.17565	0.185:0.1583:0.6567:0.0	rs9294631;rs59157154;rs9294631	852	Q5T1H1-1	.	P	852	ENSP00000424243:L852P;ENSP00000359655:L852P;ENSP00000359650:L852P	ENSP00000359650:L852P	L	-	2	0	EYS	65679184	1.000000	0.71417	0.640000	0.29408	0.410000	0.31052	3.908000	0.56355	0.094000	0.17404	-0.215000	0.12644	CTT	A|0.375;G|0.625	0.625	strong		0.408	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	65622463	A	G	65622463	3	3	22	1	0	0	0	0	1	0	0	0	5332	72	3	3	6836	3	EYS	6	65622463	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1332467	65622463	105492604	3800	8908										
EYS	346007	hgsc.bcm.edu	37	chr6	66042231	66042231	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaacttatattcttacgaTaaatcccacctggtcatgct	4	11	3	0	rs12207746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:66042231T>G	ENST00000370621.3	-	11	2293				EYS_ENST00000503581.1_Intron|EYS_ENST00000393380.2_Missense_Mutation_p.I616L|EYS_ENST00000370616.2_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						attcttacgataaatcccacc	0.303													t|||	572	0.114217	0.2496	0.0533	5008	,	,		16246	0.0427		0.0785	False		,,,				2504	0.0849				p.I616L		Atlas-SNP	.											.	EYS	527	.	0			c.A1846C						PASS	.	T	,LEU/ILE	324,1060		36,252,404	190	170	176		,1846	1	0	6	dbSNP_120	176	237,2945		8,221,1362	yes	intron,missense	EYS	NM_001142800.1,NM_001142801.1	,5	44,473,1766	GG,GT,TT		7.4481,23.4104,12.2865	,	,616/620	66042231	561,4005	692	1591	2283	SO:0001627	intron_variant	346007	exon12			TTACGATAAATCC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1766+2641A>C	6.37:g.66042231T>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		230	0.10531135531135531	135	0.27439024390243905	19	0.052486187845303865	14	0.024475524475524476	62	0.08179419525065963	t	8.337	0.827841	0.16749	0.234104	0.074481	ENSG00000188107	ENST00000393380	D	0.90069	-2.61	1.01	1.01	0.19927	.	.	.	.	.	T	0.77458	0.4133	L	0.52011	1.625	0.80722	P	0.0	P	0.41784	0.762	B	0.43386	0.418	T	0.70310	-0.4907	8	0.87932	D	0	.	4.2312	0.10604	0.0:0.0:0.0:1.0	rs12207746;rs12207746	616	Q5SZM4	.	L	616	ENSP00000377042:I616L	ENSP00000377042:I616L	I	-	1	0	EYS	66098952	0.004000	0.15560	0.005000	0.12908	0.013000	0.08279	0.969000	0.29370	0.704000	0.31869	0.247000	0.18012	ATC	T|0.889;G|0.111	0.111	strong		0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66042231	T	G	66042231	1	3	22	0	1	0	0	0	0	0	0	0	5332	1406	49	5		5	EYS	6	66042231	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	419768	66042231	105072836	3801	8909										
COL19A1	1310	hgsc.bcm.edu	37	chr6	70733547	70733547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagaaaaaggagatccagCtctggctggccttaatggag	14	7	1	2	rs2273426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:70733547C>G	ENST00000322773.4	+	12	1157	c.1055C>G	c.(1054-1056)gCt>gGt	p.A352G		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	352	Collagen-like 2.		A -> G (in dbSNP:rs2273426).		cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGATCCAGCTCTGGCTGGC	0.308													G|||	1416	0.282748	0.5522	0.1744	5008	,	,		18317	0.2986		0.1123	False		,,,				2504	0.1544				p.A352G		Atlas-SNP	.											.	COL19A1	232	.	0			c.C1055G						PASS	.	G	GLY/ALA	2030,2376	610.5+/-391.6	482,1066,655	90	88	89		1055	5.5	1	6	dbSNP_100	89	922,7678	777.1+/-407.7	50,822,3428	yes	missense	COL19A1	NM_001858.4	60	532,1888,4083	GG,GC,CC		10.7209,46.0735,22.6972	benign	352/1143	70733547	2952,10054	2203	4300	6503	SO:0001583	missense	1310	exon12			ATCCAGCTCTGGC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1055C>G	6.37:g.70733547C>G	ENSP00000316030:p.Ala352Gly	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	565	0.2586996336996337	241	0.4898373983739837	62	0.1712707182320442	175	0.30594405594405594	87	0.11477572559366754	G	14.10	2.434956	0.43224	0.460735	0.107209	ENSG00000082293	ENST00000322773	T	0.71934	-0.61	5.5	5.5	0.81552	.	0.068567	0.64402	N	0.000018	T	0.08133	0.0203	N	0.00012	-2.965	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	9	0.02654	T	1	.	15.6391	0.76981	0.0:0.1376:0.8624:0.0	rs2273426;rs61647969;rs2273426	352	Q14993	COJA1_HUMAN	G	352	ENSP00000316030:A352G	ENSP00000316030:A352G	A	+	2	0	COL19A1	70790268	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.235000	0.58666	1.342000	0.45619	-0.120000	0.15030	GCT	C|0.761;G|0.239	0.239	strong		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			G	70733547	C	G	70733547	3	3	22	1	0	0	0	0	1	0	0	0	3676	797	28	4	1097	4	COL19A1	6	70733547	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4691316	70733547	100381520	3802	8910										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71234960	71234960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagcaaagtgtctttctAttggagaatcattaactaaa	7	5	3	2	rs9455142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71234960A>G	ENST00000418814.2	+	15	2787	c.2173A>G	c.(2173-2175)Att>Gtt	p.I725V	FAM135A_ENST00000457062.2_Missense_Mutation_p.I512V|FAM135A_ENST00000361499.3_Missense_Mutation_p.I529V|FAM135A_ENST00000370479.3_Missense_Mutation_p.I512V|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.I725V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	725			I -> V (in dbSNP:rs9455142).							breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTGTCTTTCTATTGGAGAATC	0.313													A|||	102	0.0203674	0.0726	0.0058	5008	,	,		20204	0.0		0.002	False		,,,				2504	0.0				p.I725V		Atlas-SNP	.											.	FAM135A	181	.	0			c.A2173G						PASS	.	A	VAL/ILE,VAL/ILE,VAL/ILE	299,4105	154.8+/-188.1	6,287,1909	47	52	51		1585,2173,1534	-12.1	0	6	dbSNP_119	51	4,8590	3.0+/-9.4	0,4,4293	yes	missense,missense,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	29,29,29	6,291,6202	GG,GA,AA		0.0465,6.7893,2.3311	benign,benign,benign	529/1320,725/1516,512/1303	71234960	303,12695	2202	4297	6499	SO:0001583	missense	57579	exon13			CTTTCTATTGGAG	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2173A>G	6.37:g.71234960A>G	ENSP00000410768:p.Ile725Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	60	22	0.366667	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	46	0.021062271062271064	43	0.08739837398373984	3	0.008287292817679558	0	0.0	0	0.0	A	0.009	-1.845019	0.00568	0.067893	4.65E-4	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	6.07	-12.1	0.00011	.	1.270720	0.04845	N	0.441304	T	0.06416	0.0165	N	0.03948	-0.315	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.38542	-0.9656	10	0.23891	T	0.37	.	18.3851	0.90464	0.7861:0.0739:0.1401:0.0	rs9455142;rs52822960;rs9455142	725;725;529;512	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	V	725;512;512;529;725	ENSP00000410768:I725V;ENSP00000359510:I512V;ENSP00000409201:I512V;ENSP00000354913:I529V;ENSP00000423307:I725V	ENSP00000354913:I529V	I	+	1	0	FAM135A	71291681	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.852000	0.04308	-2.772000	0.00364	-0.959000	0.02639	ATT	A|0.974;G|0.026	0.026	strong		0.313	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71234960	A	G	71234960	3	3	22	1	0	0	0	0	1	0	0	0	5448	449	16	2	2301	2	FAM135A	6	71234960	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	501413	71234960	99880107	3803	8911										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71235647	71235647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtaaaggcttccagagtCctgataaatctaataactct	7	8	2	2	rs16869301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71235647C>T	ENST00000418814.2	+	15	3474	c.2860C>T	c.(2860-2862)Cct>Tct	p.P954S	FAM135A_ENST00000457062.2_Missense_Mutation_p.P741S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P758S|FAM135A_ENST00000370479.3_Missense_Mutation_p.P741S|FAM135A_ENST00000505769.1_Missense_Mutation_p.P534S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P954S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	954			P -> S (in dbSNP:rs16869301).							breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTCCAGAGTCCTGATAAATC	0.353													C|||	102	0.0203674	0.0726	0.0058	5008	,	,		19255	0.0		0.002	False		,,,				2504	0.0				p.P954S		Atlas-SNP	.											.	FAM135A	181	.	0			c.C2860T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO	296,4110	158.9+/-191.5	7,282,1914	52	55	54		2272,2860,2221	0.9	1	6	dbSNP_123	54	4,8590	3.7+/-12.6	0,4,4293	yes	missense,missense,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	74,74,74	7,286,6207	TT,TC,CC		0.0465,6.7181,2.3077	benign,benign,benign	758/1320,954/1516,741/1303	71235647	300,12700	2203	4297	6500	SO:0001583	missense	57579	exon13			CAGAGTCCTGATA	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2860C>T	6.37:g.71235647C>T	ENSP00000410768:p.Pro954Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	99	41	0.414141	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	46	0.021062271062271064	43	0.08739837398373984	3	0.008287292817679558	0	0.0	0	0.0	C	0.006	-2.070499	0.00379	0.067181	4.65E-4	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.21031	2.35;2.35;2.03;2.35;2.34;2.34	5.96	0.852	0.18995	.	0.426506	0.24048	N	0.042035	T	0.04907	0.0132	L	0.38531	1.155	0.20703	N	0.999861	B;B;B;B	0.21821	0.061;0.002;0.003;0.009	B;B;B;B	0.16289	0.015;0.004;0.011;0.01	T	0.35624	-0.9781	10	0.36615	T	0.2	.	7.0338	0.24983	0.0:0.5415:0.2138:0.2447	rs16869301;rs52792378;rs16869301	954;954;758;741	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	S	954;741;534;741;758;954	ENSP00000410768:P954S;ENSP00000359510:P741S;ENSP00000423785:P534S;ENSP00000409201:P741S;ENSP00000354913:P758S;ENSP00000423307:P954S	ENSP00000354913:P758S	P	+	1	0	FAM135A	71292368	0.903000	0.30736	0.997000	0.53966	0.055000	0.15305	0.715000	0.25822	0.405000	0.25532	-0.136000	0.14681	CCT	C|0.974;T|0.026	0.026	strong		0.353	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		T	71235647	C	T	71235647	3	4	22	1	0	0	0	0	1	0	0	0	5448	855	30	2	2988	2	FAM135A	6	71235647	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	687	71235647	99879420	3804	8912										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71236216	71236216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctgagagatggtataaaCatgcctactgtctgtacttc	8	8	2	2	rs7740873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71236216C>T	ENST00000418814.2	+	15	4043	c.3429C>T	c.(3427-3429)aaC>aaT	p.N1143N	FAM135A_ENST00000457062.2_Silent_p.N930N|FAM135A_ENST00000361499.3_Silent_p.N947N|FAM135A_ENST00000370479.3_Silent_p.N930N|FAM135A_ENST00000505769.1_Silent_p.N723N|FAM135A_ENST00000505868.1_Silent_p.N1143N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1143										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGGTATAAACATGCCTACTG	0.363													T|||	1280	0.255591	0.5174	0.2378	5008	,	,		18222	0.0893		0.173	False		,,,				2504	0.1708				p.N1143N		Atlas-SNP	.											.	FAM135A	181	.	0			c.C3429T						PASS	.	T	,,	2098,2308	603.0+/-390.0	525,1048,630	176	181	179		2841,3429,2790	2.4	0.2	6	dbSNP_116	179	1492,7108	748.3+/-407.3	142,1208,2950	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	,,	667,2256,3580	TT,TC,CC		17.3488,47.6169,27.6026	,,	947/1320,1143/1516,930/1303	71236216	3590,9416	2203	4300	6503	SO:0001819	synonymous_variant	57579	exon13			TATAAACATGCCT	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3429C>T	6.37:g.71236216C>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	170	85	0.5	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	CCDS55028.1																																																																																			C|0.734;T|0.266	0.266	strong		0.363	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		T	71236216	C	T	71236216	2	4	22	1	0	0	0	0	0	0	0	1	5448	477	17	2		2	FAM135A	6	71236216	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	569	71236216	99878851	3805	8913										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71245978	71245978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagctttattggacattcGttgggcaatttaataattcg	8	5	0	0	rs9446260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71245978G>A	ENST00000418814.2	+	19	4595	c.3981G>A	c.(3979-3981)tcG>tcA	p.S1327S	FAM135A_ENST00000457062.2_Silent_p.S1114S|FAM135A_ENST00000505769.1_Silent_p.S907S|FAM135A_ENST00000370479.3_Silent_p.S1114S|FAM135A_ENST00000361499.3_Silent_p.S1131S|FAM135A_ENST00000505868.1_Silent_p.S1327S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1327										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTGGACATTCGTTGGGCAATT	0.333													G|||	128	0.0255591	0.0923	0.0058	5008	,	,		16102	0.0		0.002	False		,,,				2504	0.0				p.S1327S		Atlas-SNP	.											.	FAM135A	181	.	0			c.G3981A						PASS	.	G	,,	389,4015	196.4+/-220.7	12,365,1825	112	115	114		3393,3981,3342	-11	0.2	6	dbSNP_119	114	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	,,	12,369,6120	AA,AG,GG		0.0465,8.8329,3.0226	,,	1131/1320,1327/1516,1114/1303	71245978	393,12609	2202	4299	6501	SO:0001819	synonymous_variant	57579	exon17			ACATTCGTTGGGC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3981G>A	6.37:g.71245978G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	CCDS55028.1																																																																																			G|0.972;A|0.028	0.028	strong		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		A	71245978	G	A	71245978	2	1	22	1	0	0	0	0	0	0	0	1	5448	1132	40	1		1	FAM135A	6	71245978	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9762	71245978	99869089	3806	8914										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71248046	71248046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttcgcttttgcagctgacAtgtcgagatcactcagaccc	10	12	2	3	rs9455152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71248046A>G	ENST00000418814.2	+	20	4784	c.4170A>G	c.(4168-4170)acA>acG	p.T1390T	FAM135A_ENST00000457062.2_Silent_p.T1177T|FAM135A_ENST00000361499.3_Silent_p.T1194T|FAM135A_ENST00000370479.3_Silent_p.T1177T|FAM135A_ENST00000505769.1_Silent_p.T970T|FAM135A_ENST00000505868.1_Silent_p.T1390T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1390										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGCAGCTGACATGTCGAGATC	0.323													A|||	101	0.0201677	0.0726	0.0043	5008	,	,		14384	0.0		0.002	False		,,,				2504	0.0				p.T1390T		Atlas-SNP	.											.	FAM135A	181	.	0			c.A4170G						PASS	.	A	,,	299,4107	162.5+/-194.5	7,285,1911	59	61	60		3582,4170,3531	2.9	1	6	dbSNP_119	60	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	,,	7,289,6207	GG,GA,AA		0.0465,6.7862,2.3297	,,	1194/1320,1390/1516,1177/1303	71248046	303,12703	2203	4300	6503	SO:0001819	synonymous_variant	57579	exon18			GCTGACATGTCGA	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4170A>G	6.37:g.71248046A>G		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	174	96	0.551724	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	CCDS55028.1																																																																																			A|0.974;G|0.026	0.026	strong		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71248046	A	G	71248046	2	3	22	1	0	0	0	0	0	0	0	1	5448	204	8	2		2	FAM135A	6	71248046	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2068	71248046	99867021	3807	8915										
C6orf57	135154	hgsc.bcm.edu	37	chr6	71289189	71289189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtctgaacttgtcaaacAgtcccttaagaagccgaagt	8	9	2	2	rs1048886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:71289189A>G	ENST00000370474.3	+	2	161	c.137A>G	c.(136-138)cAg>cGg	p.Q46R		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	46			Q -> R (in dbSNP:rs1048886).		innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						CTTGTCAAACAGTCCCTTAAG	0.403													A|||	992	0.198083	0.3192	0.2161	5008	,	,		14511	0.0833		0.175	False		,,,				2504	0.1636				p.Q46R		Atlas-SNP	.											.	C6orf57	13	.	0			c.A137G						PASS	.	A	ARG/GLN	1319,3087	444.5+/-347.4	207,905,1091	112	111	111	http://www.ncbi.nlm.nih.gov/pubmed?term	137	4.6	0.1	6	dbSNP_86	111	1468,7132	281.2+/-294.9	141,1186,2973	yes	missense	C6orf57	NM_145267.2	43	348,2091,4064	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	17.0698,29.9365,21.4286	probably-damaging	46/109	71289189	2787,10219	2203	4300	6503	SO:0001583	missense	135154	exon2			TCAAACAGTCCCT	BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.137A>G	6.37:g.71289189A>G	ENSP00000359505:p.Gln46Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	75	75	1	NM_145267	E1P532	Missense_Mutation	SNP	ENST00000370474.3	37	CCDS4972.1	447	0.20467032967032966	165	0.3353658536585366	78	0.2154696132596685	63	0.11013986013986014	141	0.18601583113456466	A	10.53	1.375636	0.24857	0.299365	0.170698	ENSG00000154079	ENST00000370474	T	0.31247	1.5	5.82	4.64	0.57946	.	0.101718	0.64402	D	0.000002	T	0.21307	0.0513	M	0.72894	2.215	0.47511	P	5.519999999999969E-4	B	0.27910	0.193	B	0.34536	0.185	T	0.08229	-1.0732	9	0.54805	T	0.06	-6.9699	10.8459	0.46743	0.8415:0.1584:0.0:0.0	rs1048886;rs3188927;rs56527910;rs61433581;rs1048886	46	Q5VUM1	CF057_HUMAN	R	46	ENSP00000359505:Q46R	ENSP00000359505:Q46R	Q	+	2	0	C6orf57	71345910	0.926000	0.31397	0.062000	0.19696	0.196000	0.23810	4.409000	0.59768	0.989000	0.38761	0.472000	0.43445	CAG	A|0.787;G|0.213	0.213	strong		0.403	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1	NM_145267		G	71289189	A	G	71289189	3	3	22	1	0	0	0	0	1	0	0	0	2366	188	7	3	143	3	C6orf57	6	71289189	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	41143	71289189	99825878	3808	8916										
DDX43	55510	hgsc.bcm.edu	37	chr6	74125283	74125283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggttgcctctgaattgatTaatattctggaaagagcaaa	10	5	2	3	rs138615882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74125283T>C	ENST00000370336.4	+	15	1967	c.1809T>C	c.(1807-1809)atT>atC	p.I603I	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	603	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTGAATTGATTAATATTCTGG	0.383													T|||	13	0.00259585	0.0098	0.0	5008	,	,		16489	0.0		0.0	False		,,,				2504	0.0				p.I603I		Atlas-SNP	.											.	DDX43	69	.	0			c.T1809C						PASS	.	T		33,4373	37.6+/-69.7	1,31,2171	110	109	109		1809	0.9	1	6	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	DDX43	NM_018665.2		1,31,6471	CC,CT,TT		0.0,0.749,0.2537		603/649	74125283	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	55510	exon15			ATTGATTAATATT		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1809T>C	6.37:g.74125283T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_018665	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																			T|0.997;C|0.003	0.003	strong		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		C	74125283	T	C	74125283	2	2	22	1	0	0	0	0	0	0	0	1	4363	1742	61	2		2	DDX43	6	74125283	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2836094	74125283	96989784	3809	8917										
C6orf150	115004	hgsc.bcm.edu	37	chr6	74138503	74138503	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttcaaaatttccttttcGatgtgagagaaggatagccg	10	6	1	2	rs73754628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74138503G>A	ENST00000370315.3	-	4	1240	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	MB21D1_ENST00000370318.1_Silent_p.I382I	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	382					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTCCTTTTCGATGTGAGAGA	0.328													G|||	280	0.0559105	0.1188	0.0533	5008	,	,		18547	0.0625		0.0189	False		,,,				2504	0.0041				p.I382I		Atlas-SNP	.											.	MB21D1	33	.	0			c.C1146T						PASS	.	G		458,3948	219.7+/-237.4	26,406,1771	105	97	100		1146	1.2	1	6	dbSNP_130	100	212,8388	90.4+/-152.6	1,210,4089	no	coding-synonymous	MB21D1	NM_138441.2		27,616,5860	AA,AG,GG		2.4651,10.3949,5.1515		382/523	74138503	670,12336	2203	4300	6503	SO:0001819	synonymous_variant	115004	exon4			CTTTTCGATGTGA	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1146C>T	6.37:g.74138503G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	130	81	0.623077	NM_138441	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																			G|0.947;A|0.053	0.053	strong		0.328	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		A	74138503	G	A	74138503	2	1	22	1	0	0	0	0	0	0	0	1	2337	1048	37	1		1	C6orf150	6	74138503	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13220	74138503	96976564	3810	8918										
MTO1	25821	hgsc.bcm.edu	37	chr6	74190448	74190448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgtcagatcaccccttccTtggagactcatttggttcaa	7	14	4	2	rs2036039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74190448T>C	ENST00000370300.4	+	8	1345	c.1255T>C	c.(1255-1257)Ttg>Ctg	p.L419L	MTO1_ENST00000370305.1_Silent_p.L345L|MTO1_ENST00000415954.2_Silent_p.L394L|MTO1_ENST00000498286.1_Silent_p.L394L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	419					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.L419L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CACCCCTTCCTTGGAGACTCA	0.418													C|||	1042	0.208067	0.2693	0.1758	5008	,	,		19156	0.2123		0.1849	False		,,,				2504	0.1677				p.L419L		Atlas-SNP	.											MTO1,NS,carcinoma,0,1	MTO1	59	1	1	Substitution - coding silent(1)	stomach(1)	c.T1255C						PASS	.	C	,,	1141,3265	715.4+/-408.5	149,843,1211	183	165	171		1180,1180,1255	5.2	0.7	6	dbSNP_94	171	1541,7059	746.9+/-407.3	136,1269,2895	no	coding-synonymous,coding-synonymous,coding-synonymous	MTO1	NM_001123226.1,NM_012123.3,NM_133645.2	,,	285,2112,4106	CC,CT,TT		17.9186,25.8965,20.6213	,,	394/733,394/693,419/718	74190448	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	25821	exon8			CCTTCCTTGGAGA	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1255T>C	6.37:g.74190448T>C		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	186	99	0.532258	NM_133645	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	CCDS4979.1																																																																																			T|0.668;G|0.032;C|0.170;N|0.000;A|0.130	0.170	strong		0.418	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		C	74190448	T	C	74190448	2	2	22	1	0	0	0	0	0	0	0	1	9953	1606	56	3		3	MTO1	6	74190448	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51945	74190448	96924619	3811	8919										
SLC17A5	26503	hgsc.bcm.edu	37	chr6	74354175	74354175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcagaatgctctggacaCgccttggaagttctattatc	11	9	2	1	rs472294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74354175C>T	ENST00000355773.5	-	2	514	c.246G>A	c.(244-246)gcG>gcA	p.A82A	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Silent_p.A82A	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCTGGACACGCCTTGGAAG	0.343													C|||	667	0.133187	0.1641	0.1571	5008	,	,		15464	0.1845		0.0726	False		,,,				2504	0.0838				p.A82A		Atlas-SNP	.											.	SLC17A5	42	.	0			c.G246A						PASS	.	C		695,3711	291.5+/-281.6	62,571,1570	74	72	73		246	1.6	0.8	6	dbSNP_83	73	631,7969	162.6+/-215.3	25,581,3694	no	coding-synonymous	SLC17A5	NM_012434.4		87,1152,5264	TT,TC,CC		7.3372,15.7739,10.1953		82/496	74354175	1326,11680	2203	4300	6503	SO:0001819	synonymous_variant	26503	exon2			TGGACACGCCTTG	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.246G>A	6.37:g.74354175C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	130	61	0.469231	NM_012434	Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	CCDS4981.1																																																																																			C|0.888;T|0.112	0.112	strong		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			T	74354175	C	T	74354175	2	4	22	1	0	0	0	0	0	0	0	1	14420	523	19	1		1	SLC17A5	6	74354175	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	163727	74354175	96760892	3812	8920										
CD109	135228	hgsc.bcm.edu	37	chr6	74407182	74407182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaggaaatgtgactattgGggtggagcttctggaacact	15	6	1	1	rs9446983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74407182G>T	ENST00000287097.5	+	2	246	c.134G>T	c.(133-135)gGg>gTg	p.G45V	CD109_ENST00000437994.2_Missense_Mutation_p.G45V|CD109_ENST00000422508.2_Missense_Mutation_p.G45V|RP11-553A21.3_ENST00000428865.2_RNA			Q6YHK3	CD109_HUMAN	CD109 molecule	45			G -> V (in dbSNP:rs9446983).		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACTATTGGGGTGGAGCTT	0.522													G|||	75	0.014976	0.056	0.0014	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0				p.G45V		Atlas-SNP	.											CD109,NS,carcinoma,-1,1	CD109	170	1	0			c.G134T						PASS	.	G	VAL/GLY,VAL/GLY,VAL/GLY	158,4248	106.9+/-145.3	1,156,2046	118	118	118		134,134,134	5.3	1	6	dbSNP_119	118	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	109,109,109	1,157,6345	TT,TG,GG		0.0116,3.586,1.2225	possibly-damaging,possibly-damaging,possibly-damaging	45/1429,45/1369,45/1446	74407182	159,12847	2203	4300	6503	SO:0001583	missense	135228	exon2			CTATTGGGGTGGA	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.134G>T	6.37:g.74407182G>T	ENSP00000287097:p.Gly45Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	93	51	0.548387	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	G	19.50	3.840234	0.71488	0.03586	1.16E-4	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.26810	1.98;1.71;1.98	5.31	5.31	0.75309	.	0.090017	0.44285	D	0.000473	T	0.26448	0.0646	N	0.19112	0.55	0.47778	D	0.99951	D;D;P;P	0.89917	1.0;0.999;0.508;0.938	D;D;B;P	0.97110	1.0;0.984;0.176;0.706	T	0.03077	-1.1075	10	0.38643	T	0.18	.	16.0095	0.80391	0.0:0.0:1.0:0.0	rs9446983;rs52825035;rs9446983	45;45;45;45	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	V	45	ENSP00000388062:G45V;ENSP00000404475:G45V;ENSP00000287097:G45V	ENSP00000287097:G45V	G	+	2	0	CD109	74463903	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	3.673000	0.54591	2.779000	0.95612	0.655000	0.94253	GGG	G|0.986;T|0.014	0.014	strong		0.522	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		T	74407182	G	T	74407182	3	4	22	1	0	0	0	0	1	0	0	0	2963	1232	43	4	140	4	CD109	6	74407182	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53007	74407182	96707885	3813	8921										
CD109	135228	hgsc.bcm.edu	37	chr6	74466377	74466377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaataggaccagacataCtatcaatcatttcaggtttc	6	11	3	1	rs6453696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74466377C>T	ENST00000287097.5	+	6	757	c.645C>T	c.(643-645)taC>taT	p.Y215Y	CD109_ENST00000422508.2_Silent_p.Y138Y|CD109_ENST00000437994.2_Silent_p.Y215Y			Q6YHK3	CD109_HUMAN	CD109 molecule	215					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCAGACATACTATCAATCAT	0.308													T|||	3347	0.668331	0.7345	0.6816	5008	,	,		15069	0.8452		0.507	False		,,,				2504	0.5532				p.Y215Y		Atlas-SNP	.											.	CD109	170	.	0			c.C645T						PASS	.	T	,,	3181,1225	423.6+/-340.2	1143,895,165	83	85	85		645,414,645	1	0.9	6	dbSNP_116	85	4562,4024	551.7+/-386.0	1240,2082,971	no	coding-synonymous,coding-synonymous,coding-synonymous	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	,,	2383,2977,1136	TT,TC,CC		46.867,27.803,40.4018	,,	215/1429,138/1369,215/1446	74466377	7743,5249	2203	4293	6496	SO:0001819	synonymous_variant	135228	exon6			GACATACTATCAA	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.645C>T	6.37:g.74466377C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	214	214	1	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																			C|0.387;T|0.613	0.613	strong		0.308	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		T	74466377	C	T	74466377	2	4	22	1	0	0	0	0	0	0	0	1	2963	576	20	2		2	CD109	6	74466377	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59195	74466377	96648690	3814	8922										
CD109	135228	hgsc.bcm.edu	37	chr6	74493432	74493432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattatcttgacttcagttAcaggatttaccaagaatttg	6	6	2	2	rs10455097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74493432A>C	ENST00000287097.5	+	19	2220	c.2108A>C	c.(2107-2109)tAc>tCc	p.Y703S	CD109_ENST00000422508.2_Missense_Mutation_p.Y626S|CD109_ENST00000437994.2_Missense_Mutation_p.Y703S			Q6YHK3	CD109_HUMAN	CD109 molecule	703			Y -> S (in allele Gov(b); dbSNP:rs10455097). {ECO:0000269|PubMed:11861285, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14980714, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACTTCAGTTACAGGATTTAC	0.333													C|||	2582	0.515575	0.6551	0.5072	5008	,	,		16327	0.5268		0.495	False		,,,				2504	0.3425				p.Y703S		Atlas-SNP	.											.	CD109	170	.	0			c.A2108C	GRCh37	CM020385	CD109	M	rs10455097	PASS	.	C	SER/TYR,SER/TYR,SER/TYR	2841,1565	490.3+/-361.7	914,1013,276	95	86	89		2108,1877,2108	5.2	0.7	6	dbSNP_119	89	4395,4205	568.4+/-389.0	1142,2111,1047	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	144,144,144	2056,3124,1323	CC,CA,AA		48.8953,35.5197,44.3641	benign,benign,benign	703/1429,626/1369,703/1446	74493432	7236,5770	2203	4300	6503	SO:0001583	missense	135228	exon19			TCAGTTACAGGAT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2108A>C	6.37:g.74493432A>C	ENSP00000287097:p.Tyr703Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	77	77	1	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	1183	0.5416666666666666	332	0.6747967479674797	187	0.5165745856353591	298	0.5209790209790209	366	0.48284960422163586	C	0.007	-1.977407	0.00452	0.644803	0.511047	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23348	1.91;1.91;1.91	5.16	5.16	0.70880	Alpha-2-macroglobulin (1);	1.522320	0.04338	N	0.353567	T	0.02342	0.0072	N	0.00459	-1.475	0.52501	P	4.499999999996174E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36187	-0.9758	9	0.12430	T	0.62	.	10.6226	0.45489	0.1331:0.7968:0.0:0.0701	rs10455097;rs52799109;rs56864921;rs10455097	626;703;703	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	S	703;626;703	ENSP00000388062:Y703S;ENSP00000404475:Y626S;ENSP00000287097:Y703S	ENSP00000287097:Y703S	Y	+	2	0	CD109	74550153	0.936000	0.31750	0.680000	0.29994	0.003000	0.03518	0.728000	0.26013	1.413000	0.46997	-0.127000	0.14921	TAC	A|0.454;C|0.546	0.546	strong		0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74493432	A	C	74493432	3	2	22	1	0	0	0	0	1	0	0	0	2963	391	14	5	2182	5	CD109	6	74493432	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27055	74493432	96621635	3815	8923										
CD109	135228	hgsc.bcm.edu	37	chr6	74497009	74497009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatattctaatgacttcaaAtgaaataaatgccacaggcc	6	8	2	3	rs2351528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74497009A>G	ENST00000287097.5	+	21	2502	c.2390A>G	c.(2389-2391)aAt>aGt	p.N797S	CD109_ENST00000422508.2_Missense_Mutation_p.N720S|CD109_ENST00000437994.2_Missense_Mutation_p.N797S			Q6YHK3	CD109_HUMAN	CD109 molecule	797			N -> S (in dbSNP:rs2351528). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14980714, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGACTTCAAATGAAATAAAT	0.378													G|||	1865	0.372404	0.4675	0.4049	5008	,	,		19371	0.4087		0.339	False		,,,				2504	0.2178				p.N797S		Atlas-SNP	.											CD109,caecum,carcinoma,0,1	CD109	170	1	0			c.A2390G						PASS	.	G	SER/ASN,SER/ASN,SER/ASN	2051,2355	608.2+/-391.1	495,1061,647	65	68	67		2390,2159,2390	1.6	0.1	6	dbSNP_100	67	3057,5543	660.2+/-401.7	552,1953,1795	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	46,46,46	1047,3014,2442	GG,GA,AA		35.5465,46.5502,39.2742	benign,benign,benign	797/1429,720/1369,797/1446	74497009	5108,7898	2203	4300	6503	SO:0001583	missense	135228	exon21			CTTCAAATGAAAT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2390A>G	6.37:g.74497009A>G	ENSP00000287097:p.Asn797Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	81	38	0.469136	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	879	0.4024725274725275	250	0.508130081300813	143	0.39502762430939226	239	0.4178321678321678	247	0.3258575197889182	G	0.021	-1.425324	0.01126	0.465502	0.355465	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.22945	1.93;2.15;1.93	5.46	1.63	0.23807	.	1.129070	0.06361	N	0.711652	T	0.10380	0.0254	L	0.53671	1.685	0.58432	P	5.000000000032756E-6	B;B;B	0.24618	0.008;0.107;0.004	B;B;B	0.16289	0.014;0.015;0.009	T	0.29119	-1.0022	9	0.30078	T	0.28	.	10.7397	0.46145	0.8168:0.0:0.1832:0.0	rs2351528;rs4632862;rs52791004;rs60212756;rs2351528	720;797;797	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	S	797;720;797	ENSP00000388062:N797S;ENSP00000404475:N720S;ENSP00000287097:N797S	ENSP00000287097:N797S	N	+	2	0	CD109	74553730	1.000000	0.71417	0.079000	0.20413	0.012000	0.07955	1.818000	0.39012	-0.068000	0.12953	-1.874000	0.00550	AAT	A|0.597;G|0.403	0.403	strong		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74497009	A	G	74497009	3	3	22	1	0	0	0	0	1	0	0	0	2963	101	4	2	2472	2	CD109	6	74497009	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3577	74497009	96618058	3816	8924										
CD109	135228	hgsc.bcm.edu	37	chr6	74497152	74497152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccactgcttctgatgctGtcacccagatgattttagta	7	12	2	3	rs5023688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74497152G>A	ENST00000287097.5	+	21	2645	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	CD109_ENST00000422508.2_Missense_Mutation_p.V768I|CD109_ENST00000437994.2_Missense_Mutation_p.V845I			Q6YHK3	CD109_HUMAN	CD109 molecule	845			V -> I (in dbSNP:rs5023688). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14980714, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTGATGCTGTCACCCAGAT	0.403													A|||	1861	0.371605	0.4644	0.4049	5008	,	,		18074	0.4087		0.339	False		,,,				2504	0.2178				p.V845I		Atlas-SNP	.											.	CD109	170	.	0			c.G2533A						PASS	.	A	ILE/VAL,ILE/VAL,ILE/VAL	2043,2363	610.5+/-391.6	492,1059,652	94	92	93		2533,2302,2533	-9.1	0	6	dbSNP_113	93	3057,5543	660.7+/-401.8	552,1953,1795	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	29,29,29	1044,3012,2447	AA,AG,GG		35.5465,46.3686,39.2127	benign,benign,benign	845/1429,768/1369,845/1446	74497152	5100,7906	2203	4300	6503	SO:0001583	missense	135228	exon21			GATGCTGTCACCC	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2533G>A	6.37:g.74497152G>A	ENSP00000287097:p.Val845Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	92	53	0.576087	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	878	0.40201465201465203	249	0.5060975609756098	143	0.39502762430939226	239	0.4178321678321678	247	0.3258575197889182	A	0.009	-1.810761	0.00600	0.463686	0.355465	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30981	1.51;1.78;1.56	5.45	-9.1	0.00714	.	0.845913	0.10991	N	0.611562	T	0.04907	0.0132	N	0.25060	0.705	0.80722	P	0.0	B;B;B	0.15930	0.002;0.015;0.0	B;B;B	0.24269	0.008;0.052;0.007	T	0.28554	-1.0040	9	0.13108	T	0.6	.	11.6482	0.51273	0.525:0.1959:0.2791:0.0	rs5023688;rs52793634;rs58164751;rs5023688	768;845;845	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	845;768;845	ENSP00000388062:V845I;ENSP00000404475:V768I;ENSP00000287097:V845I	ENSP00000287097:V845I	V	+	1	0	CD109	74553873	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-1.860000	0.01656	-2.465000	0.00533	-2.361000	0.00239	GTC	G|0.598;A|0.402	0.402	strong		0.403	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74497152	G	A	74497152	3	1	22	1	0	0	0	0	1	0	0	0	2963	1377	48	2	2615	2	CD109	6	74497152	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	143	74497152	96617915	3817	8925										
CD109	135228	hgsc.bcm.edu	37	chr6	74521948	74521948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgctgtggtacagccaacGgcagttaatatttccgcaaa	9	10	0	0	rs61063525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74521948G>T	ENST00000287097.5	+	29	3835	c.3723G>T	c.(3721-3723)acG>acT	p.T1241T	CD109_ENST00000422508.2_Silent_p.T1164T|CD109_ENST00000437994.2_Silent_p.T1224T			Q6YHK3	CD109_HUMAN	CD109 molecule	1241			T -> M (in dbSNP:rs2917862). {ECO:0000269|PubMed:11861284, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAGCCAACGGCAGTTAATA	0.328													T|||	132	0.0263578	0.0953	0.0086	5008	,	,		20405	0.0		0.0	False		,,,				2504	0.0				p.T1241T		Atlas-SNP	.											.	CD109	170	.	0			c.G3723T						PASS	.	T	,,	324,4082	796.3+/-415.4	13,298,1892	146	139	142		3672,3492,3723	0	0	6	dbSNP_129	142	5,8595	818.7+/-406.8	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	,,	13,303,6187	TT,TG,GG		0.0581,7.3536,2.5296	,,	1224/1429,1164/1369,1241/1446	74521948	329,12677	2203	4300	6503	SO:0001819	synonymous_variant	135228	exon29			GCCAACGGCAGTT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3723G>T	6.37:g.74521948G>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	193	84	0.435233	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																			G|0.971;T|0.029	0.029	strong		0.328	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		T	74521948	G	T	74521948	2	4	22	1	0	0	0	0	0	0	0	1	2963	1103	39	4		4	CD109	6	74521948	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24796	74521948	96593119	3818	8926										
CD109	135228	hgsc.bcm.edu	37	chr6	74524724	74524724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaatgttgtatataatgtGaaggcttctgggtcttctag	10	6	4	1	rs59555720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74524724G>A	ENST00000287097.5	+	30	3901	c.3789G>A	c.(3787-3789)gtG>gtA	p.V1263V	CD109_ENST00000437994.2_Silent_p.V1246V|CD109_ENST00000422508.2_Silent_p.V1186V			Q6YHK3	CD109_HUMAN	CD109 molecule	1263					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATAATGTGAAGGCTTCTG	0.308													G|||	132	0.0263578	0.0953	0.0086	5008	,	,		15195	0.0		0.0	False		,,,				2504	0.0				p.V1263V		Atlas-SNP	.											.	CD109	170	.	0			c.G3789A						PASS	.	G	,,	321,4085	168.7+/-199.5	13,295,1895	80	87	84		3738,3558,3789	5.4	1	6	dbSNP_129	84	5,8593	4.3+/-15.6	0,5,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	,,	13,300,6189	AA,AG,GG		0.0582,7.2855,2.5069	,,	1246/1429,1186/1369,1263/1446	74524724	326,12678	2203	4299	6502	SO:0001819	synonymous_variant	135228	exon30			TAATGTGAAGGCT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3789G>A	6.37:g.74524724G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																			G|0.971;A|0.029	0.029	strong		0.308	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74524724	G	A	74524724	2	1	22	1	0	0	0	0	0	0	0	1	2963	1277	45	2		2	CD109	6	74524724	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2776	74524724	96590343	3819	8927										
CD109	135228	hgsc.bcm.edu	37	chr6	74524757	74524757	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctagaagacgaagatcTatccaaaatcaagaagcctt	6	9	4	4	rs58562849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:74524757T>G	ENST00000287097.5	+	30	3934	c.3822T>G	c.(3820-3822)tcT>tcG	p.S1274S	CD109_ENST00000422508.2_Silent_p.S1197S|CD109_ENST00000437994.2_Silent_p.S1257S			Q6YHK3	CD109_HUMAN	CD109 molecule	1274					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACGAAGATCTATCCAAAATC	0.328													T|||	132	0.0263578	0.0953	0.0086	5008	,	,		14879	0.0		0.0	False		,,,				2504	0.0				p.S1274S		Atlas-SNP	.											.	CD109	170	.	0			c.T3822G						PASS	.	T	,,	323,4083	172.3+/-202.3	13,297,1893	99	101	100		3771,3591,3822	-5.2	0	6	dbSNP_129	100	5,8591	4.3+/-15.6	0,5,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	,,	13,302,6186	GG,GT,TT		0.0582,7.3309,2.5227	,,	1257/1429,1197/1369,1274/1446	74524757	328,12674	2203	4298	6501	SO:0001819	synonymous_variant	135228	exon30			AAGATCTATCCAA	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3822T>G	6.37:g.74524757T>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																			T|0.971;G|0.029	0.029	strong		0.328	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74524757	T	G	74524757	2	3	22	1	0	0	0	0	0	0	0	1	2963	1509	53	5		5	CD109	6	74524757	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33	74524757	96590310	3820	8928										
COL12A1	1303	hgsc.bcm.edu	37	chr6	75848181	75848181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtgtgcgctcactgccaAtcaggtcatcactttctgac	8	13	5	1	rs240736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:75848181A>G	ENST00000322507.8	-	29	5522	c.5213T>C	c.(5212-5214)aTt>aCt	p.I1738T	COL12A1_ENST00000416123.2_Missense_Mutation_p.I1738T|COL12A1_ENST00000345356.6_Missense_Mutation_p.I574T|COL12A1_ENST00000483888.2_Missense_Mutation_p.I1738T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1738	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in dbSNP:rs240736).		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						CTCACTGCCAATCAGGTCATC	0.373													A|||	1327	0.264976	0.3487	0.2911	5008	,	,		19678	0.1548		0.2883	False		,,,				2504	0.2229				p.I1738T		Atlas-SNP	.											.	COL12A1	385	.	0			c.T5213C						PASS	.	A	THR/ILE,THR/ILE	1179,2649		179,821,914	95	88	90		5213,1721	-11.6	0	6	dbSNP_79	90	2364,5942		327,1710,2116	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	89,89	506,2531,3030	GG,GA,AA		28.4614,30.7994,29.1989	benign,benign	1738/3064,574/1900	75848181	3543,8591	1914	4153	6067	SO:0001583	missense	1303	exon29			CTGCCAATCAGGT	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.5213T>C	6.37:g.75848181A>G	ENSP00000325146:p.Ile1738Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	126	66	0.52381	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	563	0.25778388278388276	169	0.3434959349593496	102	0.281767955801105	86	0.15034965034965034	206	0.2717678100263852	A	6.073	0.381789	0.11524	0.307994	0.284614	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.86769	-2.13;-2.17;-2.14;-2.11	5.79	-11.6	0.00059	Fibronectin, type III (2);	1.352220	0.04630	N	0.403531	T	0.44138	0.1279	N	0.05306	-0.075	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42103	-0.9471	9	0.12766	T	0.61	.	11.4509	0.50151	0.6276:0.2382:0.1342:0.0	rs240736;rs1758118;rs52807243;rs60846728;rs240736	574;1738	Q99715-2;Q99715	.;COCA1_HUMAN	T	1738;1738;574;1738;1738	ENSP00000325146:I1738T;ENSP00000305147:I574T;ENSP00000412864:I1738T;ENSP00000421216:I1738T	ENSP00000325146:I1738T	I	-	2	0	COL12A1	75904901	0.004000	0.15560	0.002000	0.10522	0.480000	0.33159	0.400000	0.20932	-2.627000	0.00436	-1.074000	0.02243	ATT	A|0.734;G|0.266	0.266	strong		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		G	75848181	A	G	75848181	3	3	22	1	0	0	0	0	1	0	0	0	3669	101	4	2	4130	2	COL12A1	6	75848181	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1323424	75848181	95266886	3821	8929										
COL12A1	1303	hgsc.bcm.edu	37	chr6	75899300	75899300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacctttatatggaattTtttttattgcagcaagaagt	7	6	0	1	rs75535959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:75899300T>G	ENST00000322507.8	-	6	935	c.626A>C	c.(625-627)aAa>aCa	p.K209T	COL12A1_ENST00000416123.2_Missense_Mutation_p.K209T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.K209T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	209	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						ATATGGAATTTTTTTTATTGC	0.318													T|||	138	0.0275559	0.1006	0.0072	5008	,	,		18044	0.0		0.0	False		,,,				2504	0.0				p.K209T		Atlas-SNP	.											.	COL12A1	385	.	0			c.A626C						PASS	.	T	THR/LYS,	278,3348		12,254,1547	123	114	117		626,	0.4	1	6	dbSNP_131	117	2,8142		0,2,4070	yes	missense,intron	COL12A1	NM_004370.5,NM_080645.2	78,	12,256,5617	GG,GT,TT		0.0246,7.6669,2.3789	benign,	209/3064,	75899300	280,11490	1813	4072	5885	SO:0001583	missense	1303	exon6			GGAATTTTTTTTA	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.626A>C	6.37:g.75899300T>G	ENSP00000325146:p.Lys209Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	91	50	0.549451	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	53	0.024267399267399268	50	0.1016260162601626	3	0.008287292817679558	0	0.0	0	0.0	T	7.405	0.633502	0.14322	0.076669	2.46E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78481	-1.18;-1.18;-1.18	5.65	0.435	0.16544	von Willebrand factor, type A (3);	0.422713	0.24285	N	0.039863	T	0.43433	0.1247	L	0.31926	0.97	0.25462	N	0.987905	B	0.14438	0.01	B	0.16289	0.015	T	0.38950	-0.9637	10	0.22706	T	0.39	.	10.6931	0.45884	0.0:0.4407:0.0:0.5593	.	209	Q99715	COCA1_HUMAN	T	209	ENSP00000325146:K209T;ENSP00000412864:K209T;ENSP00000421216:K209T	ENSP00000325146:K209T	K	-	2	0	COL12A1	75956020	0.989000	0.36119	0.995000	0.50966	0.916000	0.54674	0.615000	0.24329	-0.134000	0.11516	0.533000	0.62120	AAA	T|0.984;G|0.016	0.016	strong		0.318	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		G	75899300	T	G	75899300	3	3	22	1	0	0	0	0	1	0	0	0	3669	1841	64	5	8809	5	COL12A1	6	75899300	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51119	75899300	95215767	3822	8930										
TMEM30A	55754	hgsc.bcm.edu	37	chr6	75994151	75994151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgttggaggtgacaaaAatgccaatgccgatgggaat	13	5	0	1	rs240374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:75994151A>G	ENST00000230461.6	-	1	533	c.204T>C	c.(202-204)atT>atC	p.I68I	RP1-234P15.4_ENST00000607221.1_lincRNA|TMEM30A_ENST00000475111.2_Silent_p.I68I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	68					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGACAAAAATGCCAATGC	0.582													G|||	749	0.149561	0.3502	0.0937	5008	,	,		16318	0.1062		0.0835	False		,,,				2504	0.0307				p.I68I		Atlas-SNP	.											.	TMEM30A	40	.	0			c.T204C						PASS	.	G	,	1503,2903	674.8+/-403.0	255,993,955	77	65	69		204,204	2.1	1	6	dbSNP_79	69	760,7840	785.0+/-407.6	32,696,3572	no	coding-synonymous,coding-synonymous	TMEM30A	NM_001143958.1,NM_018247.3	,	287,1689,4527	GG,GA,AA		8.8372,34.1126,17.3997	,	68/326,68/362	75994151	2263,10743	2203	4300	6503	SO:0001819	synonymous_variant	55754	exon1			GACAAAAATGCCA	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.204T>C	6.37:g.75994151A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_001143958	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	CCDS4983.1																																																																																			A|0.828;G|0.172	0.172	strong		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		G	75994151	A	G	75994151	2	3	22	1	0	0	0	0	0	0	0	1	16150	10	1	2		2	TMEM30A	6	75994151	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94851	75994151	95120916	3823	8931										
FILIP1	27145	hgsc.bcm.edu	37	chr6	76022541	76022541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctgaataggggatgtggGcctgtctgcaaatgcgcctc	13	9	2	1	rs34807169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:76022541G>A	ENST00000237172.7	-	5	3337	c.3007C>T	c.(3007-3009)Ccc>Tcc	p.P1003S	FILIP1_ENST00000393004.2_Missense_Mutation_p.P1003S|FILIP1_ENST00000370020.1_Missense_Mutation_p.P904S|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1003			P -> S (in dbSNP:rs34807169).							breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGGATGTGGGCCTGTCTGCA	0.502													G|||	151	0.0301518	0.1112	0.0058	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0				p.P1003S		Atlas-SNP	.											.	FILIP1	173	.	0			c.C3007T						PASS	.	G	SER/PRO	365,4041	187.1+/-213.8	15,335,1853	117	111	113		3007	5.1	1	6	dbSNP_126	113	5,8595	4.3+/-15.6	0,5,4295	yes	missense	FILIP1	NM_015687.2	74	15,340,6148	AA,AG,GG		0.0581,8.2842,2.8448	probably-damaging	1003/1214	76022541	370,12636	2203	4300	6503	SO:0001583	missense	27145	exon5			ATGTGGGCCTGTC	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3007C>T	6.37:g.76022541G>A	ENSP00000237172:p.Pro1003Ser	Somatic	241	1	0.00414938		WXS	Illumina HiSeq	Phase_I	237	109	0.459916	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	60	0.027472527472527472	57	0.11585365853658537	3	0.008287292817679558	0	0.0	0	0.0	G	15.74	2.922149	0.52653	0.082842	5.81E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19532	2.14;2.14;2.15	6.03	5.14	0.70334	.	0.273243	0.42548	D	0.000686	T	0.11452	0.0279	L	0.53249	1.67	0.53688	D	0.999977	B;B;B	0.31680	0.335;0.073;0.12	B;B;B	0.32624	0.058;0.103;0.149	T	0.05115	-1.0905	10	0.16420	T	0.52	-8.9487	17.2101	0.86928	0.0:0.1259:0.8741:0.0	rs34807169	1003;1003;1003	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	S	1003;1003;904	ENSP00000376728:P1003S;ENSP00000237172:P1003S;ENSP00000359037:P904S	ENSP00000237172:P1003S	P	-	1	0	FILIP1	76079261	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.086000	0.57664	1.518000	0.48934	0.655000	0.94253	CCC	G|0.973;A|0.027	0.027	strong		0.502	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		A	76022541	G	A	76022541	3	1	22	1	0	0	0	0	1	0	0	0	5894	1203	42	2	642	2	FILIP1	6	76022541	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28390	76022541	95092526	3824	8932										
SENP6	26054	hgsc.bcm.edu	37	chr6	76373002	76373002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggaccattattaagaacGtcaattcatcagaattctgg	7	8	4	2	rs16886792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:76373002G>A	ENST00000447266.2	+	9	1240	c.762G>A	c.(760-762)acG>acA	p.T254T	SENP6_ENST00000327284.8_Silent_p.T247T|SENP6_ENST00000370014.3_Silent_p.T254T|SENP6_ENST00000370010.2_Silent_p.T247T	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	254					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)				TATTAAGAACGTCAATTCATC	0.353													G|||	71	0.0141773	0.053	0.0014	5008	,	,		17025	0.0		0.0	False		,,,				2504	0.0				p.T254T		Atlas-SNP	.											.	SENP6	189	.	0			c.G762A						PASS	.	G	,	190,3488		6,178,1655	108	102	104		741,762	-6.3	1	6	dbSNP_123	104	2,8180		0,2,4089	no	coding-synonymous,coding-synonymous	SENP6	NM_001100409.1,NM_015571.2	,	6,180,5744	AA,AG,GG		0.0244,5.1659,1.6189	,	247/1106,254/1113	76373002	192,11668	1839	4091	5930	SO:0001819	synonymous_variant	26054	exon9			AAGAACGTCAATT		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.762G>A	6.37:g.76373002G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	114	57	0.5	NM_015571	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	CCDS47454.1																																																																																			G|0.985;A|0.015	0.015	strong		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		A	76373002	G	A	76373002	2	1	22	1	0	0	0	0	0	0	0	1	14050	1132	40	1		1	SENP6	6	76373002	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	350461	76373002	94742065	3825	8933										
IMPG1	3617	hgsc.bcm.edu	37	chr6	76640781	76640781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcatatcctggtttgcagCgacactccgcttcctcagtc	8	14	2	0	rs3734313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:76640781C>T	ENST00000369950.3	-	15	2321	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGTTTGCAGCGACACTCCGC	0.567													C|||	962	0.192093	0.1293	0.2032	5008	,	,		18124	0.254		0.1809	False		,,,				2504	0.2168				p.R711H	Pancreas(37;839 1141 2599 26037)	Atlas-SNP	.											IMPG1,NS,carcinoma,-1,1	IMPG1	143	1	0			c.G2132A						scavenged	.	C	HIS/ARG	553,3853	249.3+/-256.8	36,481,1686	119	95	103		2132	1.2	1	6	dbSNP_107	103	1460,7140	278.6+/-293.5	118,1224,2958	yes	missense	IMPG1	NM_001563.2	29	154,1705,4644	TT,TC,CC		16.9767,12.5511,15.4775	probably-damaging	711/798	76640781	2013,10993	2203	4300	6503	SO:0001583	missense	3617	exon15			TTGCAGCGACACT	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2132G>A	6.37:g.76640781C>T	ENSP00000358966:p.Arg711His	Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	171	74	0.432749	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	442	0.20238095238095238	66	0.13414634146341464	68	0.1878453038674033	165	0.28846153846153844	143	0.18865435356200527	C	13.01	2.108235	0.37242	0.125511	0.169767	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20463	2.07;2.15	5.45	1.18	0.20946	Epidermal growth factor-like, type 3 (1);	0.353536	0.24280	N	0.039906	T	0.04543	0.0124	L	0.46157	1.445	0.09310	P	0.9999999898373	P	0.52316	0.952	B	0.35770	0.21	T	0.33369	-0.9871	9	0.34782	T	0.22	.	3.7999	0.08754	0.2697:0.437:0.0:0.2933	rs3734313;rs52816738;rs61241500;rs3734313	711	Q17R60	IMPG1_HUMAN	H	711;72	ENSP00000358966:R711H;ENSP00000358968:R72H	ENSP00000358966:R711H	R	-	2	0	IMPG1	76697501	0.112000	0.22096	0.992000	0.48379	0.274000	0.26718	0.372000	0.20467	0.283000	0.22279	0.461000	0.40582	CGC	C|0.826;T|0.174	0.174	strong		0.567	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		T	76640781	C	T	76640781	3	4	22	1	0	0	0	0	1	0	0	0	7728	768	27	1	273	1	IMPG1	6	76640781	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	267779	76640781	94474286	3826	8934										
PHIP	55023	hgsc.bcm.edu	37	chr6	79700648	79700648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttcttttctcttctgaCctgtaagtctttatttcttc	4	9	5	1	rs149171291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:79700648C>T	ENST00000275034.4	-	20	2423	c.2256G>A	c.(2254-2256)agG>agA	p.R752R		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	752					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTCTTCTGACCTGTAAGTCT	0.313													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		17543	0.0		0.0	False		,,,				2504	0.0				p.R752R		Atlas-SNP	.											.	PHIP	177	.	0			c.G2256A						PASS	.	C		29,4377	35.2+/-66.4	0,29,2174	110	110	110		2256	-0.4	1	6	dbSNP_134	110	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PHIP	NM_017934.5		0,30,6472	TT,TC,CC		0.0116,0.6582,0.2307		752/1822	79700648	30,12974	2203	4299	6502	SO:0001819	synonymous_variant	55023	exon20			TTCTGACCTGTAA	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2256G>A	6.37:g.79700648C>T		Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	220	101	0.459091	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																			C|0.997;T|0.003	0.003	strong		0.313	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			T	79700648	C	T	79700648	2	4	22	1	0	0	0	0	0	0	0	1	11842	506	18	2		2	PHIP	6	79700648	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3059867	79700648	91414419	3827	8935										
UBE2CBP	90025	hgsc.bcm.edu	37	chr6	83667045	83667045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcacctgaaaggaattcaCacggcgaagggatgaaggca	13	9	2	2	rs7739323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:83667045C>T	ENST00000369747.3	-	9	1257	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	379	HECT-like.		V -> M (in dbSNP:rs7739323).		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										AAGGAATTCACACGGCGAAGG	0.463													T|||	791	0.157947	0.1838	0.1427	5008	,	,		17847	0.126		0.1571	False		,,,				2504	0.1677				p.V379M		Atlas-SNP	.											.	.	.	.	0			c.G1135A						PASS	.	T	MET/VAL	794,3612	751.1+/-412.2	77,640,1486	117	96	103		1135	5.6	0.8	6	dbSNP_116	103	1310,7290	758.2+/-407.5	100,1110,3090	yes	missense	UBE2CBP	NM_198920.1	21	177,1750,4576	TT,TC,CC		15.2326,18.0209,16.1771	benign	379/390	83667045	2104,10902	2203	4300	6503	SO:0001583	missense	90025	exon9			AATTCACACGGCG	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1135G>A	6.37:g.83667045C>T	ENSP00000358762:p.Val379Met	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	138	62	0.449275	NM_198920	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	CCDS34491.1	361	0.1652930402930403	112	0.22764227642276422	57	0.1574585635359116	71	0.12412587412587413	121	0.15963060686015831	T	0.011	-1.692513	0.00731	0.180209	0.152326	ENSG00000118420	ENST00000369747	T	0.28069	1.63	5.57	5.57	0.84162	.	0.000000	0.85682	N	0.000000	T	0.01558	0.0050	N	0.00170	-1.935	0.09310	P	0.9999999999999759	B	0.06786	0.001	B	0.06405	0.002	T	0.41538	-0.9503	9	0.02654	T	1	-17.7087	9.4496	0.38719	0.0:0.0819:0.0:0.9181	rs7739323;rs17214717;rs7739323	379	Q7Z6J8	UB2CB_HUMAN	M	379	ENSP00000358762:V379M	ENSP00000358762:V379M	V	-	1	0	UBE2CBP	83723764	0.943000	0.32029	0.764000	0.31436	0.036000	0.12997	1.450000	0.35134	0.953000	0.37825	-0.521000	0.04368	GTG	C|0.843;T|0.157	0.157	strong		0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		T	83667045	C	T	83667045	3	4	22	1	0	0	0	0	1	0	0	0	16844	478	17	2	42	2	UBE2CBP	6	83667045	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3966397	83667045	87448022	3828	8936										
DOPEY1	23033	hgsc.bcm.edu	37	chr6	83850049	83850049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttggagcatactgcatcAagctgattcttcagaaaaga	9	8	3	3	rs9444039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:83850049A>T	ENST00000349129.2	+	23	5602	c.5342A>T	c.(5341-5343)cAa>cTa	p.Q1781L	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1762L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1772L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1781			Q -> L (in dbSNP:rs9444039).		protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATACTGCATCAAGCTGATTCT	0.408													A|||	272	0.0543131	0.0998	0.0216	5008	,	,		18015	0.0804		0.002	False		,,,				2504	0.0429				p.Q1781L		Atlas-SNP	.											.	DOPEY1	190	.	0			c.A5342T						PASS	.	A	LEU/GLN,LEU/GLN	319,4087	170.1+/-200.6	7,305,1891	167	154	159		5315,5342	5.5	1	6	dbSNP_119	159	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	DOPEY1	NM_001199942.1,NM_015018.3	113,113	7,310,6186	TT,TA,AA		0.0581,7.2401,2.4912	benign,benign	1772/2477,1781/2466	83850049	324,12682	2203	4300	6503	SO:0001583	missense	23033	exon23			TGCATCAAGCTGA	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5342A>T	6.37:g.83850049A>T	ENSP00000195654:p.Gln1781Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	98	0.04487179487179487	42	0.08536585365853659	8	0.022099447513812154	47	0.08216783216783216	1	0.0013192612137203166	A	9.349	1.065010	0.20067	0.072401	5.81E-4	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26067	1.8;1.76	5.47	5.47	0.80525	.	0.053593	0.85682	D	0.000000	T	0.05777	0.0151	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.14980	-1.0453	10	0.07325	T	0.83	.	11.6173	0.51096	0.8592:0.0:0.0:0.1408	rs9444039;rs52792741;rs9444039	1672;1772;1781	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	1781;1762;1762	ENSP00000195654:Q1781L;ENSP00000237163:Q1762L	ENSP00000237163:Q1762L	Q	+	2	0	DOPEY1	83906768	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	3.673000	0.54591	2.201000	0.70794	0.477000	0.44152	CAA	A|0.968;T|0.032	0.032	strong		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		T	83850049	A	T	83850049	3	4	22	1	0	0	0	0	1	0	0	0	4707	130	5	5	5424	5	DOPEY1	6	83850049	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	183004	83850049	87265018	3829	8937										
PRSS35	167681	hgsc.bcm.edu	37	chr6	84233325	84233325	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatttgaggcagatgctaaGatgatggtaaatacagtgtg	13	4	0	4	rs147168330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84233325G>A	ENST00000369700.3	+	2	342	c.165G>A	c.(163-165)aaG>aaA	p.K55K	PRSS35_ENST00000536636.1_Silent_p.K55K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	55						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGATGCTAAGATGATGGTAA	0.453													G|||	19	0.00379393	0.0144	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0				p.K55K		Atlas-SNP	.											.	PRSS35	60	.	0			c.G165A						PASS	.	G	,	32,4374	38.4+/-70.7	0,32,2171	129	127	128		165,165	2	0	6	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRSS35	NM_001170423.1,NM_153362.2	,	0,32,6471	AA,AG,GG		0.0,0.7263,0.246	,	55/414,55/414	84233325	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	167681	exon2			TGCTAAGATGATG	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.165G>A	6.37:g.84233325G>A		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	198	84	0.424242	NM_153362	A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																			G|0.997;A|0.003	0.003	strong		0.453	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84233325	G	A	84233325	2	1	22	1	0	0	0	0	0	0	0	1	12624	933	33	2		2	PRSS35	6	84233325	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	383276	84233325	86881742	3830	8938										
SNAP91	9892	hgsc.bcm.edu	37	chr6	84303273	84303273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagtggtggtggcagcggcGgtggcagcagtagtggcagc	21	7	0	0	rs181491904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84303273G>A	ENST00000439399.2	-	18	1936	c.1620C>T	c.(1618-1620)acC>acT	p.T540T	SNAP91_ENST00000428679.2_Silent_p.T540T|SNAP91_ENST00000521743.1_Silent_p.T540T|SNAP91_ENST00000520302.1_Silent_p.T538T|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Silent_p.T540T|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000195649.6_Silent_p.T540T|SNAP91_ENST00000521485.1_Silent_p.T540T	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	540	Ala-rich.|Thr-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		tggcagcggcggtggcagcag	0.577													G|||	20	0.00399361	0.0151	0.0	5008	,	,		15737	0.0		0.0	False		,,,				2504	0.0				p.T540T		Atlas-SNP	.											.	SNAP91	199	.	0			c.C1620T						PASS	.	G	,,,	20,4206		0,20,2093	15	21	19		1620,1614,,1620	2.3	0.1	6		19	1,8333		0,1,4166	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	SNAP91	NM_001242792.1,NM_001242793.1,NM_001242794.1,NM_014841.2	,,,	0,21,6259	AA,AG,GG		0.012,0.4733,0.1672	,,,	540/908,538/878,,540/908	84303273	21,12539	2113	4167	6280	SO:0001819	synonymous_variant	9892	exon17			AGCGGCGGTGGCA	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1620C>T	6.37:g.84303273G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	105	57	0.542857	NM_001242792	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																			G|0.995;A|0.005	0.005	strong		0.577	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			A	84303273	G	A	84303273	2	1	22	1	0	0	0	0	0	0	0	1	14833	1103	39	1		1	SNAP91	6	84303273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69948	84303273	86811794	3831	8939										
RIPPLY2	134701	hgsc.bcm.edu	37	chr6	84563147	84563147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggcgtcatggagaacgcGggaggcgcagagggtacaga	19	8	1	3	rs9353143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84563147G>A	ENST00000369689.1	+	1	163	c.12G>A	c.(10-12)gcG>gcA	p.A4A	RIPPLY2_ENST00000369687.1_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	4					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGGAGAACGCGGGAGGCGCAG	0.697													A|||	1469	0.293331	0.6596	0.2752	5008	,	,		13517	0.2619		0.0825	False		,,,				2504	0.0603				p.A4A		Atlas-SNP	.											RIPPLY2,rectum,carcinoma,0,1	RIPPLY2	17	1	0			c.G12A						PASS	.	A		1259,1859		244,771,544	3	4	4		12	-3.7	0	6	dbSNP_119	4	433,5751		28,377,2687	no	coding-synonymous	RIPPLY2	NM_001009994.1		272,1148,3231	AA,AG,GG		7.0019,40.3784,18.1896		4/129	84563147	1692,7610	1559	3092	4651	SO:0001819	synonymous_variant	134701	exon1			GAACGCGGGAGGC	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.12G>A	6.37:g.84563147G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	20	13	0.65	NM_001009994	Q5TAB6	Silent	SNP	ENST00000369689.1	37	CCDS34493.1																																																																																			G|0.692;A|0.308	0.308	strong		0.697	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		A	84563147	G	A	84563147	2	1	22	1	0	0	0	0	0	0	0	1	13385	1103	39	1		1	RIPPLY2	6	84563147	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	259874	84563147	86551920	3832	8940										
MRAP2	112609	hgsc.bcm.edu	37	chr6	84799185	84799185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactttcccagacctcacaCaaagacctggattgagaaac	6	14	1	3	rs2875382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84799185C>T	ENST00000257776.4	+	4	738	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	201					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.H201H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGACCTCACACAAAGACCTGG	0.413													T|||	1749	0.349241	0.711	0.2666	5008	,	,		20311	0.1736		0.2306	False		,,,				2504	0.2219				p.H201H		Atlas-SNP	.											MRAP2,NS,carcinoma,0,1	MRAP2	40	1	1	Substitution - coding silent(1)	stomach(1)	c.C603T						PASS	.	T		2840,1566	489.9+/-361.6	915,1010,278	94	100	98		603	-0.5	0	6	dbSNP_101	98	1802,6798	732.8+/-406.9	196,1410,2694	no	coding-synonymous	MRAP2	NM_138409.2		1111,2420,2972	TT,TC,CC		20.9535,35.5424,35.6912		201/206	84799185	4642,8364	2203	4300	6503	SO:0001819	synonymous_variant	112609	exon4			CTCACACAAAGAC	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.603C>T	6.37:g.84799185C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	85	36	0.423529	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	CCDS5001.1																																																																																			C|0.654;T|0.346	0.346	strong		0.413	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		T	84799185	C	T	84799185	2	4	22	1	0	0	0	0	0	0	0	1	9754	477	17	2		2	MRAP2	6	84799185	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	236038	84799185	86315882	3833	8941										
KIAA1009	22832	hgsc.bcm.edu	37	chr6	84856409	84856409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttggccatttcttacctcTttctgtagaatttcttctcg	5	10	5	1	rs9449804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84856409T>C	ENST00000403245.3	-	25	3981	c.3867A>G	c.(3865-3867)aaA>aaG	p.K1289K	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.K1213K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTTACCTCTTTCTGTAGAA	0.308													T|||	454	0.090655	0.2973	0.036	5008	,	,		16911	0.006		0.0169	False		,,,				2504	0.0133				p.K1289K		Atlas-SNP	.											.	KIAA1009	119	.	0			c.A3867G						PASS	.	T		1113,3285		164,785,1250	32	32	32		3867	-4.6	0.9	6	dbSNP_119	32	131,8451		6,119,4166	no	coding-synonymous	KIAA1009	NM_014895.2		170,904,5416	CC,CT,TT		1.5265,25.307,9.584		1289/1404	84856409	1244,11736	2199	4291	6490	SO:0001819	synonymous_variant	22832	exon25			TACCTCTTTCTGT																												ENST00000403245.3:c.3867A>G	6.37:g.84856409T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_014895		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																			T|0.900;C|0.100	0.100	strong		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84856409	T	C	84856409	2	2	22	1	0	0	0	0	0	0	0	1	8203	1606	56	3		3	KIAA1009	6	84856409	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	57224	84856409	86258658	3834	8942										
KIAA1009	22832	hgsc.bcm.edu	37	chr6	84925636	84925636	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagctcacatttgttccaagAagtcctaggtacacaattta	6	9	1	1	rs9449840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:84925636A>C	ENST00000403245.3	-	4	291	c.177T>G	c.(175-177)ctT>ctG	p.L59L	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTGTTCCAAGAAGTCCTAGGT	0.328													C|||	366	0.0730831	0.2602	0.0245	5008	,	,		16242	0.002		0.001	False		,,,				2504	0.002				p.L59L		Atlas-SNP	.											.	KIAA1009	119	.	0			c.T177G						PASS	.	C		1020,3368		119,782,1293	37	36	36		177	-3	0	6	dbSNP_119	36	6,8568		0,6,4281	no	coding-synonymous	KIAA1009	NM_014895.2		119,788,5574	CC,CA,AA		0.07,23.2452,7.9154		59/1404	84925636	1026,11936	2194	4287	6481	SO:0001819	synonymous_variant	22832	exon4			TCCAAGAAGTCCT																												ENST00000403245.3:c.177T>G	6.37:g.84925636A>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	62	31	0.5	NM_014895		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																			A|0.936;C|0.064	0.064	strong		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84925636	A	C	84925636	2	2	22	1	0	0	0	0	0	0	0	1	8203	233	9	5		5	KIAA1009	6	84925636	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69227	84925636	86189431	3835	8943										
TBX18	9096	hgsc.bcm.edu	37	chr6	85446965	85446965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagggtgaggcctgagcggGcacaggcagaatagtcagca	17	8	1	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:85446965G>A	ENST00000369663.5	-	8	1599	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	421					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCTGAGCGGGCACAGGCAGA	0.597																																					p.A421V		Atlas-SNP	.											TBX18,colon,carcinoma,0,1	TBX18	131	1	0			c.C1262T						scavenged	.						96	90	92					6																	85446965		2203	4300	6503	SO:0001583	missense	9096	exon8			GAGCGGGCACAGG	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1262C>T	6.37:g.85446965G>A	ENSP00000358677:p.Ala421Val	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	276	4	0.0144928	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790408	0.50102	.	.	ENSG00000112837	ENST00000369663	D	0.87809	-2.3	5.18	5.18	0.71444	.	0.663219	0.16235	N	0.223391	T	0.74786	0.3762	L	0.27053	0.805	0.38020	D	0.934815	P	0.41313	0.745	B	0.44278	0.445	T	0.72484	-0.4279	10	0.17369	T	0.5	.	14.3045	0.66375	0.0:0.1486:0.8514:0.0	.	421	O95935	TBX18_HUMAN	V	421	ENSP00000358677:A421V	ENSP00000358677:A421V	A	-	2	0	TBX18	85503684	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.279000	0.58953	2.409000	0.81822	0.585000	0.79938	GCC	.	.	none		0.597	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		A	85446965	G	A	85446965	3	1	22	1	0	0	0	0	1	0	0	0	15650	1203	42	2	565	2	TBX18	6	85446965	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	521329	85446965	85668102	3836	8944										
NT5E	4907	hgsc.bcm.edu	37	chr6	86195098	86195098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtttgatgaaagaggaaaCgtcatctcttcccatggaaa	10	7	2	3	rs35478984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:86195098C>T	ENST00000257770.3	+	4	946	c.897C>T	c.(895-897)aaC>aaT	p.N299N	NT5E_ENST00000369651.3_Silent_p.N299N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	299					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AAAGAGGAAACGTCATCTCTT	0.438													C|||	97	0.019369	0.0703	0.0058	5008	,	,		20130	0.0		0.0	False		,,,				2504	0.0				p.N299N	Melanoma(140;797 1765 2035 2752 18208)	Atlas-SNP	.											.	NT5E	56	.	0			c.C897T						PASS	.	C	,	287,4119	159.6+/-192.1	8,271,1924	151	136	141		897,897	-0.1	0.9	6	dbSNP_126	141	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	NT5E	NM_001204813.1,NM_002526.3	,	8,273,6222	TT,TC,CC		0.0233,6.5138,2.2221	,	299/525,299/575	86195098	289,12717	2203	4300	6503	SO:0001819	synonymous_variant	4907	exon4			AGGAAACGTCATC	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.897C>T	6.37:g.86195098C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001204813	B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	CCDS5002.1	44	0.020146520146520148	42	0.08536585365853659	2	0.0055248618784530384	0	0.0	0	0.0	C	6.940	0.543124	0.13250	0.065138	2.33E-4	ENSG00000135318	ENST00000416334	.	.	.	5.36	-0.104	0.13605	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42732	-0.9434	4	.	.	.	-7.7038	11.3536	0.49602	0.0:0.1944:0.0:0.8056	rs35478984	.	.	.	M	64	.	.	T	+	2	0	NT5E	86251817	0.963000	0.33076	0.937000	0.37676	0.836000	0.47400	0.030000	0.13688	-0.211000	0.10124	-1.744000	0.00683	ACG	C|0.977;T|0.023	0.023	strong		0.438	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			T	86195098	C	T	86195098	2	4	22	1	0	0	0	0	0	0	0	1	10693	535	19	1		1	NT5E	6	86195098	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	748133	86195098	84919969	3837	8945										
ZNF292	23036	hgsc.bcm.edu	37	chr6	87969341	87969341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcagagtgaaaatgtgccGgcctcacgaagtacacaagt	10	10	2	2	rs16878809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:87969341G>A	ENST00000369577.3	+	8	6037	c.5994G>A	c.(5992-5994)ccG>ccA	p.P1998P	ZNF292_ENST00000339907.4_Silent_p.P1993P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1998						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAATGTGCCGGCCTCACGAA	0.388													G|||	390	0.0778754	0.2171	0.0375	5008	,	,		17704	0.001		0.0447	False		,,,				2504	0.0317				p.P1998P		Atlas-SNP	.											.	ZNF292	479	.	0			c.G5994A						PASS	.	G		678,2966		59,560,1203	16	15	15		5994	2.1	0	6	dbSNP_123	15	303,7837		5,293,3772	no	coding-synonymous	ZNF292	NM_015021.1		64,853,4975	AA,AG,GG		3.7224,18.6059,8.3248		1998/2724	87969341	981,10803	1822	4070	5892	SO:0001819	synonymous_variant	23036	exon8			TGTGCCGGCCTCA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5994G>A	6.37:g.87969341G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	111	55	0.495495	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																			G|0.910;A|0.090	0.090	strong		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		A	87969341	G	A	87969341	2	1	22	1	0	0	0	0	0	0	0	1	17823	1103	39	1		1	ZNF292	6	87969341	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1774243	87969341	83145726	3838	8946										
ZNF292	23036	hgsc.bcm.edu	37	chr6	87969480	87969480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatcccagaaaaacaacttGtagaaaaaaaaagtcctgac	6	8	0	4	rs6910541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:87969480G>A	ENST00000369577.3	+	8	6176	c.6133G>A	c.(6133-6135)Gta>Ata	p.V2045I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V2040I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2045			V -> I (in dbSNP:rs6910541). {ECO:0000269|PubMed:9628581}.			nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAACAACTTGTAGAAAAAAA	0.358													G|||	563	0.11242	0.1112	0.1527	5008	,	,		18764	0.0972		0.1064	False		,,,				2504	0.1074				p.V2045I		Atlas-SNP	.											.	ZNF292	479	.	0			c.G6133A						PASS	.	G	ILE/VAL	437,3161		24,389,1386	28	25	26		6133	-9.9	0	6	dbSNP_116	26	846,7270		37,772,3249	yes	missense	ZNF292	NM_015021.1	29	61,1161,4635	AA,AG,GG		10.4239,12.1456,10.9527	benign	2045/2724	87969480	1283,10431	1799	4058	5857	SO:0001583	missense	23036	exon8			CAACTTGTAGAAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6133G>A	6.37:g.87969480G>A	ENSP00000358590:p.Val2045Ile	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	192	93	0.484375	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	275	0.1259157509157509	71	0.1443089430894309	61	0.1685082872928177	63	0.11013986013986014	80	0.10554089709762533	G	4.208	0.037399	0.08148	0.121456	0.104239	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07114	3.22;3.23	5.87	-9.85	0.00476	.	1.934300	0.01884	N	0.038072	T	0.00608	0.0020	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40627	-0.9553	9	0.19147	T	0.46	.	6.9653	0.24619	0.1398:0.3551:0.4245:0.0806	rs6910541;rs52830459;rs61648684;rs6910541	2045	O60281	ZN292_HUMAN	I	2045;2040	ENSP00000358590:V2045I;ENSP00000342847:V2040I	ENSP00000342847:V2040I	V	+	1	0	ZNF292	88026199	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.649000	0.05384	-1.686000	0.01439	-0.345000	0.07892	GTA	G|0.875;A|0.125	0.125	strong		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		A	87969480	G	A	87969480	3	1	22	1	0	0	0	0	1	0	0	0	17823	1377	48	2	6163	2	ZNF292	6	87969480	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139	87969480	83145587	3839	8947										
GJB7	375519	hgsc.bcm.edu	37	chr6	87994101	87994101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagaagaggatgaagatcGtcttctcagtgggtttggag	14	6	2	4	rs41273281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:87994101G>A	ENST00000525899.1	-	3	875	c.530C>T	c.(529-531)aCg>aTg	p.T177M	GJB7_ENST00000296882.3_Missense_Mutation_p.T177M	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	177			T -> M (in dbSNP:rs41273281).		cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GATGAAGATCGTCTTCTCAGT	0.403													G|||	381	0.0760783	0.2088	0.0389	5008	,	,		21437	0.001		0.0467	False		,,,				2504	0.0307				p.T177M		Atlas-SNP	.											GJB7,NS,carcinoma,+1,2	GJB7	28	2	0			c.C530T						PASS	.	G	MET/THR	822,3584	328.0+/-300.3	83,656,1464	112	107	109		530	0.6	0.1	6	dbSNP_127	109	335,8265	116.3+/-176.0	5,325,3970	yes	missense	GJB7	NM_198568.2	81	88,981,5434	AA,AG,GG		3.8953,18.6564,8.8959	benign	177/224	87994101	1157,11849	2203	4300	6503	SO:0001583	missense	375519	exon3			AAGATCGTCTTCT	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"Ion channels / Gap junction proteins (connexins)"	16690	protein-coding gene	gene with protein product	"connexin 25"	611921	"gap junction protein, beta 7"				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.530C>T	6.37:g.87994101G>A	ENSP00000435355:p.Thr177Met	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	107	41	0.383178	NM_198568	B3KXL0|Q96KP0	Missense_Mutation	SNP	ENST00000525899.1	37	CCDS5008.1	144	0.06593406593406594	98	0.1991869918699187	13	0.03591160220994475	0	0.0	33	0.04353562005277045	G	2.237	-0.374671	0.05034	0.186564	0.038953	ENSG00000164411	ENST00000525899;ENST00000296882	D;D	0.96365	-3.99;-3.99	5.12	0.601	0.17529	Gap junction protein, cysteine-rich domain (1);	0.153133	0.42548	U	0.000696	D	0.86581	0.5967	L	0.46670	1.46	0.58432	P	1.0000000000287557E-6	B	0.26975	0.165	B	0.20577	0.03	T	0.77153	-0.2692	9	0.56958	D	0.05	.	4.2044	0.10481	0.2451:0.0:0.2505:0.5043	rs41273281;rs57142874	177	Q6PEY0	CXB7_HUMAN	M	177	ENSP00000435355:T177M;ENSP00000296882:T177M	ENSP00000296882:T177M	T	-	2	0	GJB7	88050820	0.732000	0.28121	0.099000	0.21106	0.009000	0.06853	1.080000	0.30779	0.157000	0.19338	-0.899000	0.02877	ACG	G|0.918;A|0.082	0.082	strong		0.403	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			A	87994101	G	A	87994101	3	1	22	1	0	0	0	0	1	0	0	0	6413	1145	40	1	145	1	GJB7	6	87994101	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24621	87994101	83120966	3840	8948										
RARS2	57038	hgsc.bcm.edu	37	chr6	88224164	88224164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggtgttattccaagaagTttcattccattggctaggac	9	8	1	1	rs8802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:88224164T>C	ENST00000369536.5	-	20	1749	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	568					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTCCAAGAAGTTTCATTCCAT	0.333													T|||	661	0.131989	0.1604	0.1441	5008	,	,		18114	0.1468		0.1014	False		,,,				2504	0.1012				p.K568K		Atlas-SNP	.											.	RARS2	61	.	0			c.A1704G						PASS	.	T		723,3683	299.0+/-285.6	60,603,1540	64	67	66		1704	3.2	1	6	dbSNP_52	66	800,7800	185.7+/-233.4	30,740,3530	no	coding-synonymous	RARS2	NM_020320.3		90,1343,5070	CC,CT,TT		9.3023,16.4094,11.71		568/579	88224164	1523,11483	2203	4300	6503	SO:0001819	synonymous_variant	57038	exon20			AAGAAGTTTCATT	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1704A>G	6.37:g.88224164T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	180	94	0.522222	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	CCDS5011.1																																																																																			T|0.871;C|0.129	0.129	strong		0.333	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		C	88224164	T	C	88224164	2	2	22	1	0	0	0	0	0	0	0	1	13059	1722	60	2		2	RARS2	6	88224164	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	230063	88224164	82890903	3841	8949										
RARS2	57038	hgsc.bcm.edu	37	chr6	88229953	88229953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggaatacttgctgaaaatGctttttttgtcctttatctg	7	6	1	1	rs138460258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:88229953G>A	ENST00000369536.5	-	13	1102	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	353					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TGCTGAAAATGCTTTTTTTGT	0.333													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17566	0.0		0.0	False		,,,				2504	0.0				p.H353Y		Atlas-SNP	.											.	RARS2	61	.	0			c.C1057T						PASS	.	G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	203	194	197		1057	5.8	1	6	dbSNP_134	197	0,8600		0,0,4300	no	missense	RARS2	NM_020320.3	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/579	88229953	1,13005	2203	4300	6503	SO:0001583	missense	57038	exon13			GAAAATGCTTTTT	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1057C>T	6.37:g.88229953G>A	ENSP00000358549:p.His353Tyr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	52	27	0.519231	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.9	4.688534	0.88639	2.27E-4	0.0	ENSG00000146282	ENST00000369536	T	0.62232	0.04	5.76	5.76	0.90799	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81291	-0.0999	10	0.72032	D	0.01	.	19.975	0.97300	0.0:0.0:1.0:0.0	.	353	Q5T160	SYRM_HUMAN	Y	353	ENSP00000358549:H353Y	ENSP00000358549:H353Y	H	-	1	0	RARS2	88286672	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.939000	0.92951	2.724000	0.93272	0.585000	0.79938	CAT	G|1.000;A|0.000	0.000	strong		0.333	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		A	88229953	G	A	88229953	3	1	22	1	0	0	0	0	1	0	0	0	13059	1319	46	2	711	2	RARS2	6	88229953	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5789	88229953	82885114	3842	8950										
RARS2	57038	hgsc.bcm.edu	37	chr6	88279282	88279282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgatgtgatcaagttttcTggtggaagattcaacactct	9	6	4	3	rs7748563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:88279282T>C	ENST00000369536.5	-	2	108	c.63A>G	c.(61-63)ccA>ccG	p.P21P		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	21					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAGTTTTCTGGTGGAAGAT	0.313													T|||	68	0.0135783	0.0477	0.0058	5008	,	,		18264	0.0		0.001	False		,,,				2504	0.0				p.P21P		Atlas-SNP	.											.	RARS2	61	.	0			c.A63G						PASS	.	T		160,4246	107.8+/-146.2	5,150,2048	110	113	112		63	2.8	1	6	dbSNP_116	112	0,8600		0,0,4300	no	coding-synonymous	RARS2	NM_020320.3		5,150,6348	CC,CT,TT		0.0,3.6314,1.2302		21/579	88279282	160,12846	2203	4300	6503	SO:0001819	synonymous_variant	57038	exon2			GTTTTCTGGTGGA	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.63A>G	6.37:g.88279282T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	157	71	0.452229	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	CCDS5011.1	23	0.010531135531135532	20	0.04065040650406504	3	0.008287292817679558	0	0.0	0	0.0	T	14.17	2.456129	0.43634	0.036314	0.0	ENSG00000146282	ENST00000369523	.	.	.	5.2	2.75	0.32379	.	.	.	.	.	T	0.41026	0.1141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33137	-0.9880	5	0.39692	T	0.17	.	5.3844	0.16211	0.0:0.0915:0.177:0.7315	rs7748563;rs7748563	.	.	.	G	9	.	ENSP00000358536:R9G	R	-	1	2	RARS2	88336001	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.869000	0.27996	0.374000	0.24650	0.528000	0.53228	AGA	T|0.987;C|0.013	0.013	strong		0.313	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		C	88279282	T	C	88279282	2	2	22	1	0	0	0	0	0	0	0	1	13059	1567	55	3		3	RARS2	6	88279282	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49329	88279282	82835785	3843	8951										
ORC3L	23595	hgsc.bcm.edu	37	chr6	88362943	88362943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaagagaatagaggagttcCtggcccagtttcagagcctc	11	10	1	3	rs2307393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:88362943C>T	ENST00000392844.3	+	14	1540	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	ORC3_ENST00000546266.1_Silent_p.L355L|ORC3_ENST00000257789.4_Silent_p.L498L|ORC3_ENST00000417380.2_3'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	498					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGAGGAGTTCCTGGCCCAGTT	0.408													C|||	235	0.0469249	0.0953	0.0504	5008	,	,		17284	0.0099		0.0467	False		,,,				2504	0.0174				p.L498L		Atlas-SNP	.											.	ORC3	51	.	0			c.C1492T						PASS	.	C	,,	421,3985	203.8+/-226.2	21,379,1803	94	89	91		1063,1492,1492	4.8	1	6	dbSNP_100	91	395,8205	125.5+/-184.1	8,379,3913	no	coding-synonymous,coding-synonymous,coding-synonymous	ORC3	NM_001197259.1,NM_012381.3,NM_181837.2	,,	29,758,5716	TT,TC,CC		4.593,9.5552,6.274	,,	355/569,498/712,498/713	88362943	816,12190	2203	4300	6503	SO:0001819	synonymous_variant	23595	exon14			GAGTTCCTGGCCC	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1492C>T	6.37:g.88362943C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_181837	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	CCDS43486.1																																																																																			C|0.945;T|0.055	0.055	strong		0.408	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			T	88362943	C	T	88362943	2	4	22	1	0	0	0	0	0	0	0	1	11263	680	24	2		2	ORC3L	6	88362943	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83661	88362943	82752124	3844	8952										
AKIRIN2	55122	hgsc.bcm.edu	37	chr6	88385579	88385579	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaggtgaaatacttacaGctagcaggctgttctccata	8	9	2	1	rs63749091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:88385579G>A	ENST00000257787.5	-	4	1124	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	200					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						AATACTTACAGCTAGCAGGCT	0.303													A|||	164	0.0327476	0.1165	0.0144	5008	,	,		19800	0.0		0.0	False		,,,				2504	0.0				p.S200S		Atlas-SNP	.											.	AKIRIN2	13	.	0			c.C600T						PASS	.	A		466,3938	782.5+/-414.6	26,414,1762	71	69	70		600	4.6	1	6	dbSNP_129	70	1,8599	818.3+/-406.9	0,1,4299	yes	coding-synonymous-near-splice	AKIRIN2	NM_018064.3		26,415,6061	AA,AG,GG		0.0116,10.5813,3.5912		200/204	88385579	467,12537	2202	4300	6502	SO:0001630	splice_region_variant	55122	exon4			CTTACAGCTAGCA	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.601+1C>T	6.37:g.88385579G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_018064	Q9BQB1	Silent	SNP	ENST00000257787.5	37	CCDS5013.1																																																																																			G|0.968;A|0.032	0.032	strong		0.303	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	Silent	A	88385579	G	A	88385579	5	1	22	1	0	0	0	0	0	0	1	0	462	985	34	2	19	2	AKIRIN2	6	88385579	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22636	88385579	82729488	3845	8953										
GABRR1	2569	hgsc.bcm.edu	37	chr6	89926962	89926962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacttctcttccgggccagTgcattctgctttcagtggcc	11	13	3	0	rs1186902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:89926962T>C	ENST00000454853.2	-	1	190	c.80A>G	c.(79-81)cAc>cGc	p.H27R	GABRR1_ENST00000435811.1_Missense_Mutation_p.H27R|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000369451.3_Intron	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	27			H -> R (in dbSNP:rs1186902).		gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H21R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCCGGGCCAGTGCATTCTGCT	0.458													T|||	1156	0.230831	0.0711	0.3069	5008	,	,		18130	0.2857		0.2644	False		,,,				2504	0.3016				p.H27R		Atlas-SNP	.											GABRR1,NS,carcinoma,0,1	GABRR1	63	1	1	Substitution - Missense(1)	stomach(1)	c.A80G						PASS	.	T	ARG/HIS	472,3934	222.0+/-238.9	26,420,1757	96	79	85		80	1.8	1	6	dbSNP_87	85	2313,6287	387.8+/-342.3	324,1665,2311	yes	missense	GABRR1	NM_002042.3	29	350,2085,4068	CC,CT,TT		26.8953,10.7127,21.4132	benign	27/480	89926962	2785,10221	2203	4300	6503	SO:0001583	missense	2569	exon1			GGCCAGTGCATTC		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.80A>G	6.37:g.89926962T>C	ENSP00000412673:p.His27Arg	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	207	113	0.545894	NM_001256703	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	513	0.2348901098901099	33	0.06707317073170732	113	0.31215469613259667	164	0.2867132867132867	203	0.2678100263852243	T	9.648	1.140726	0.21205	0.107127	0.268953	ENSG00000146276	ENST00000454853;ENST00000435811	T;T	0.37235	1.21;1.21	5.75	1.76	0.24704	.	0.481200	0.20662	N	0.088011	T	0.09730	0.0239	N	0.24115	0.695	0.38563	P	0.05025400000000002	B;B	0.19445	0.036;0.021	B;B	0.23018	0.043;0.019	T	0.18304	-1.0341	8	.	.	.	-20.5204	12.327	0.55018	0.0:0.0:0.4083:0.5917	rs1186902;rs1998819;rs60344424;rs1186902	27;27	P24046-2;P24046	.;GBRR1_HUMAN	R	27	ENSP00000412673:H27R;ENSP00000394687:H27R	.	H	-	2	0	GABRR1	89983681	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.229000	0.42990	0.056000	0.16144	0.528000	0.53228	CAC	T|0.779;C|0.221	0.221	strong		0.458	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			C	89926962	T	C	89926962	3	2	22	1	0	0	0	0	1	0	0	0	6176	1696	59	2	1399	2	GABRR1	6	89926962	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1541383	89926962	81188105	3846	8954										
GABRR2	2570	hgsc.bcm.edu	37	chr6	89967498	89967498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggaagatacgaaaacccGtctggcccttcagaagcccc	9	14	3	2	rs282129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:89967498G>A	ENST00000402938.3	-	9	1422	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	GABRR2_ENST00000602399.1_Missense_Mutation_p.T455M	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	430					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ACGAAAACCCGTCTGGCCCTT	0.458													g|||	1263	0.252196	0.4561	0.1657	5008	,	,		19676	0.1389		0.2525	False		,,,				2504	0.1544				p.T430M		Atlas-SNP	.											.	GABRR2	41	.	0			c.C1289T						PASS	.	G	MET/THR	1877,2529	541.3+/-375.7	413,1051,739	93	82	86		1364	3.5	0.9	6	dbSNP_79	86	2397,6203	398.9+/-346.3	336,1725,2239	yes	missense	GABRR2	NM_002043.2	81	749,2776,2978	AA,AG,GG		27.8721,42.601,32.8618	benign	455/491	89967498	4274,8732	2203	4300	6503	SO:0001583	missense	2570	exon9			AAACCCGTCTGGC		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1289C>T	6.37:g.89967498G>A	ENSP00000386029:p.Thr430Met	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	255	118	0.462745	NM_002043	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	586	0.2683150183150183	231	0.4695121951219512	68	0.1878453038674033	88	0.15384615384615385	199	0.262532981530343	g	10.33	1.320004	0.23994	0.42601	0.278721	ENSG00000111886	ENST00000402938	.	.	.	5.92	3.47	0.39725	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.704828	0.15948	N	0.236871	T	0.03915	0.0110	N	0.00648	-1.295	0.53005	P	4.0000000000040004E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	7	.	.	.	.	8.9229	0.35623	0.8082:0.1265:0.0653:0.0	rs282129;rs52805113;rs56794643;rs282129	455	P28476	GBRR2_HUMAN	M	455	.	.	T	-	2	0	GABRR2	90024217	0.159000	0.22864	0.902000	0.35471	0.775000	0.43874	2.846000	0.48262	0.459000	0.27016	-0.295000	0.09555	ACG	G|0.693;T|0.005	.	strong		0.458	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			A	89967498	G	A	89967498	3	1	22	1	0	0	0	0	1	0	0	0	6177	1145	40	1	112	1	GABRR2	6	89967498	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40536	89967498	81147569	3847	8955										
ANKRD6	22881	hgsc.bcm.edu	37	chr6	90338863	90338863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaattaaaaacctggtgCatgttaaagattcagaatct	8	5	2	3	rs9353687	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90338863C>T	ENST00000522441.1	+	15	2159	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	ANKRD6_ENST00000369408.5_Silent_p.C471C|ANKRD6_ENST00000447838.2_Silent_p.C506C|ANKRD6_ENST00000520793.1_Silent_p.C447C|ANKRD6_ENST00000339746.4_Silent_p.C506C|LYRM2_ENST00000520441.1_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	506					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAACCTGGTGCATGTTAAAGA	0.378													C|||	841	0.167931	0.1876	0.1398	5008	,	,		18179	0.2222		0.1809	False		,,,				2504	0.092				p.C506C		Atlas-SNP	.											.	ANKRD6	51	.	0			c.C1518T						PASS	.	C	,,,,	705,2943		73,559,1192	82	81	81		1518,1518,1413,1341,1518	4	1	6	dbSNP_119	81	1461,6697		132,1197,2750	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANKRD6	NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4	,,,,	205,1756,3942	TT,TC,CC		17.9088,19.3257,18.3466	,,,,	506/728,506/728,471/693,447/664,506/723	90338863	2166,9640	1824	4079	5903	SO:0001819	synonymous_variant	22881	exon15			CTGGTGCATGTTA	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1518C>T	6.37:g.90338863C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_001242809	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1	419	0.19184981684981686	99	0.20121951219512196	46	0.1270718232044199	131	0.229020979020979	143	0.18865435356200527	C	9.377	1.071923	0.20147	0.193257	0.179088	ENSG00000135299	ENST00000492158	.	.	.	6.07	3.97	0.46021	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.56245	-0.8011	3	.	.	.	-6.6477	14.3358	0.66589	0.0:0.8596:0.0:0.1404	rs9353687	.	.	.	Y	80	.	.	H	+	1	0	ANKRD6	90395584	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.526000	0.45607	1.550000	0.49438	0.655000	0.94253	CAT	C|0.815;T|0.185	0.185	strong		0.378	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90338863	C	T	90338863	2	4	22	1	0	0	0	0	0	0	0	1	685	718	25	2		2	ANKRD6	6	90338863	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	371365	90338863	80776204	3848	8956										
MDN1	23195	hgsc.bcm.edu	37	chr6	90424458	90424458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccatgaacaggatccatCgagaggaaaagtctagaaaa	9	8	2	3	rs114422841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90424458C>T	ENST00000369393.3	-	46	6988	c.6873G>A	c.(6871-6873)tcG>tcA	p.S2291S	MDN1_ENST00000428876.1_Silent_p.S2291S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2291					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGATCCATCGAGAGGAAAA	0.433													C|||	13	0.00259585	0.0083	0.0	5008	,	,		20221	0.0		0.001	False		,,,				2504	0.001				p.S2291S		Atlas-SNP	.											.	MDN1	478	.	0			c.G6873A						PASS	.	C		54,4352	52.3+/-87.9	0,54,2149	67	64	65		6873	-4	1	6	dbSNP_132	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MDN1	NM_014611.1		0,56,6447	TT,TC,CC		0.0233,1.2256,0.4306		2291/5597	90424458	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	23195	exon46			ATCCATCGAGAGG	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6873G>A	6.37:g.90424458C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	64	35	0.546875	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			C|0.996;T|0.004	0.004	strong		0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90424458	C	T	90424458	2	4	22	1	0	0	0	0	0	0	0	1	9415	871	31	1		1	MDN1	6	90424458	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85595	90424458	80690609	3849	8957										
MDN1	23195	hgsc.bcm.edu	37	chr6	90461235	90461235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatctattgtaggctcctTgtctcccaccgcaatccagt	6	15	3	0	rs115558420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90461235T>C	ENST00000369393.3	-	23	3257	c.3142A>G	c.(3142-3144)Aag>Gag	p.K1048E	MDN1_ENST00000428876.1_Missense_Mutation_p.K1048E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1048					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTAGGCTCCTTGTCTCCCACC	0.478													T|||	9	0.00179712	0.0068	0.0	5008	,	,		18332	0.0		0.0	False		,,,				2504	0.0				p.K1048E		Atlas-SNP	.											MDN1,NS,carcinoma,+2,1	MDN1	478	1	0			c.A3142G						PASS	.	T	GLU/LYS	41,4365	44.6+/-78.6	0,41,2162	155	133	140		3142	4.5	1	6	dbSNP_132	140	0,8600		0,0,4300	yes	missense	MDN1	NM_014611.1	56	0,41,6462	CC,CT,TT		0.0,0.9305,0.3152	possibly-damaging	1048/5597	90461235	41,12965	2203	4300	6503	SO:0001583	missense	23195	exon23			GCTCCTTGTCTCC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3142A>G	6.37:g.90461235T>C	ENSP00000358400:p.Lys1048Glu	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	186	90	0.483871	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	T	15.19	2.759315	0.49468	0.009305	0.0	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.39592	1.07;1.07;1.07	5.71	4.48	0.54585	.	0.162096	0.53938	D	0.000057	T	0.13200	0.0320	N	0.22421	0.69	0.38581	D	0.950177	B;B	0.19331	0.035;0.003	B;B	0.15484	0.008;0.013	T	0.06409	-1.0828	10	0.14656	T	0.56	.	12.5357	0.56140	0.0:0.0:0.1389:0.8611	.	975;1048	Q5T795;Q9NU22	.;MDN1_HUMAN	E	1048;1048;975	ENSP00000358400:K1048E;ENSP00000413970:K1048E;ENSP00000409664:K975E	ENSP00000358400:K1048E	K	-	1	0	MDN1	90517956	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.063000	0.49978	2.172000	0.68678	0.533000	0.62120	AAG	T|0.997;C|0.003	0.003	strong		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90461235	T	C	90461235	3	2	22	1	0	0	0	0	1	0	0	0	9415	1821	63	2	13968	2	MDN1	6	90461235	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36777	90461235	80653832	3850	8958										
MDN1	23195	hgsc.bcm.edu	37	chr6	90482397	90482397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacactgcaagctgctcgaTgagaacagaggacggccgtg	13	11	0	2	rs12110451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90482397T>C	ENST00000369393.3	-	14	2093	c.1978A>G	c.(1978-1980)Atc>Gtc	p.I660V	MDN1_ENST00000428876.1_Missense_Mutation_p.I660V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	660			I -> V (in dbSNP:rs12110451).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCTGCTCGATGAGAACAGAG	0.512													T|||	822	0.164137	0.1793	0.1398	5008	,	,		16706	0.2163		0.1809	False		,,,				2504	0.09				p.I660V		Atlas-SNP	.											.	MDN1	478	.	0			c.A1978G						PASS	.	T	VAL/ILE	848,3558	333.3+/-302.9	87,674,1442	107	110	109		1978	4.5	1	6	dbSNP_120	109	1539,7061	290.5+/-299.9	142,1255,2903	yes	missense	MDN1	NM_014611.1	29	229,1929,4345	CC,CT,TT		17.8953,19.2465,18.3531	benign	660/5597	90482397	2387,10619	2203	4300	6503	SO:0001583	missense	23195	exon14			GCTCGATGAGAAC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1978A>G	6.37:g.90482397T>C	ENSP00000358400:p.Ile660Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	410	0.18772893772893773	93	0.18902439024390244	46	0.1270718232044199	127	0.22202797202797203	144	0.18997361477572558	T	11.71	1.718341	0.30503	0.192465	0.178953	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.40476	1.03;1.03;1.03	5.65	4.47	0.54385	.	0.212692	0.41605	D	0.000848	T	0.12135	0.0295	N	0.11201	0.11	0.35477	P	0.20219200000000004	B;B	0.18610	0.007;0.029	B;B	0.20384	0.011;0.029	T	0.04855	-1.0922	9	0.62326	D	0.03	.	11.8001	0.52122	0.0:0.0:0.2879:0.7121	rs12110451;rs52821586;rs60532094;rs12110451	587;660	Q5T795;Q9NU22	.;MDN1_HUMAN	V	660;660;587	ENSP00000358400:I660V;ENSP00000413970:I660V;ENSP00000409664:I587V	ENSP00000358400:I660V	I	-	1	0	MDN1	90539118	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.720000	0.47252	0.953000	0.37825	0.528000	0.53228	ATC	T|0.817;C|0.183	0.183	strong		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90482397	T	C	90482397	3	2	22	1	0	0	0	0	1	0	0	0	9415	1464	51	2	15168	2	MDN1	6	90482397	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21162	90482397	80632670	3851	8959										
MDN1	23195	hgsc.bcm.edu	37	chr6	90497589	90497589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacctcctggttgcaaaaaActgaaatccaggtgccactt	7	11	0	1	rs4707569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90497589A>C	ENST00000369393.3	-	8	1433	c.1318T>G	c.(1318-1320)Ttt>Gtt	p.F440V	MDN1_ENST00000428876.1_Missense_Mutation_p.F440V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	440			F -> V (in dbSNP:rs4707569).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTGCAAAAAACTGAAATCCA	0.463													A|||	771	0.153954	0.1399	0.1398	5008	,	,		17057	0.2163		0.1819	False		,,,				2504	0.09				p.F440V		Atlas-SNP	.											.	MDN1	478	.	0			c.T1318G						PASS	.	A	VAL/PHE	719,3687	292.1+/-281.9	63,593,1547	102	97	99		1318	4.4	1	6	dbSNP_111	99	1536,7064	284.2+/-296.5	142,1252,2906	yes	missense	MDN1	NM_014611.1	50	205,1845,4453	CC,CA,AA		17.8605,16.3187,17.3382	benign	440/5597	90497589	2255,10751	2203	4300	6503	SO:0001583	missense	23195	exon8			CAAAAAACTGAAA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1318T>G	6.37:g.90497589A>C	ENSP00000358400:p.Phe440Val	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	26	26	1	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	370	0.16941391941391942	54	0.10975609756097561	45	0.12430939226519337	127	0.22202797202797203	144	0.18997361477572558	A	11.90	1.777902	0.31502	0.163187	0.178605	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.46819	0.86;0.86	5.65	4.45	0.53987	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.051750	0.85682	D	0.000000	T	0.16428	0.0395	N	0.13235	0.315	0.27005	P	0.9648156999999999	P;B	0.40000	0.698;0.036	B;B	0.40702	0.338;0.065	T	0.07009	-1.0795	9	0.51188	T	0.08	.	8.4306	0.32755	0.7872:0.0:0.2128:0.0	rs4707569;rs61658597;rs4707569	440;440	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	V	440	ENSP00000358400:F440V;ENSP00000413970:F440V	ENSP00000358400:F440V	F	-	1	0	MDN1	90554310	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.988000	0.56951	1.031000	0.39867	0.460000	0.39030	TTT	A|0.832;C|0.168	0.168	strong		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90497589	A	C	90497589	3	2	22	1	0	0	0	0	1	0	0	0	9415	43	2	5	15852	5	MDN1	6	90497589	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15192	90497589	80617478	3852	8960										
CASP8AP2	9994	hgsc.bcm.edu	37	chr6	90565242	90565242	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaaagagctgatgaaaaaAtttaaagaaatacagacaca	7	4	0	6	rs369328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90565242A>G	ENST00000551025.1	+	0	1716									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGATGAAAAAATTTAAAGAAA	0.289													G|||	2118	0.422923	0.3502	0.3314	5008	,	,		16871	0.3006		0.5417	False		,,,				2504	0.59				p.K93K	Colon(187;1656 2025 17045 31481 39901)	Atlas-SNP	.											.	CASP8AP2	108	.	0			c.A279G						PASS	.	G	,,	1207,2167		264,679,744	14	13	14		279,279,279	-0.1	1	6	dbSNP_80	14	3785,3857		1039,1707,1075	no	coding-synonymous,coding-synonymous,coding-synonymous	CASP8AP2	NM_001137667.1,NM_001137668.1,NM_012115.3	,,	1303,2386,1819	GG,GA,AA		49.5289,35.7736,45.3159	,,	93/1967,93/1967,93/1967	90565242	4992,6024	1687	3821	5508			9994	exon5			GAAAAAATTTAAA	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90565242A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	75	75	1	NM_001137667		Silent	SNP	ENST00000551025.1	37																																																																																				G|0.396;N|0.000	0.396	strong		0.289	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		G	90565242	A	G	90565242	1	3	22	0	1	0	0	0	0	0	0	0	2678	98	4	2		2	CASP8AP2	6	90565242	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67653	90565242	80549825	3853	8961										
BACH2	60468	hgsc.bcm.edu	37	chr6	90660319	90660319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagggcagactttgattggTaccgggcagctggtgttggg	18	7	0	2	rs9451298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:90660319T>C	ENST00000257749.4	-	7	2213	c.1506A>G	c.(1504-1506)gtA>gtG	p.V502V	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.V502V|BACH2_ENST00000343122.3_Silent_p.V502V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	502						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.V502V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTGATTGGTACCGGGCAGC	0.662													C|||	1555	0.310503	0.4251	0.1931	5008	,	,		17279	0.2361		0.2773	False		,,,				2504	0.3497				p.V502V		Atlas-SNP	.											BACH2_ENST00000257749,NS,carcinoma,0,3	BACH2	224	3	1	Substitution - coding silent(1)	stomach(1)	c.A1506G						PASS	.	C	,	1636,2770	644.3+/-398.0	306,1024,873	51	59	56		1506,1506	5.3	1	6	dbSNP_119	56	2434,6166	683.4+/-403.9	355,1724,2221	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	661,2748,3094	CC,CT,TT		28.3023,37.1312,31.2932	,	502/842,502/842	90660319	4070,8936	2203	4300	6503	SO:0001819	synonymous_variant	60468	exon5			GATTGGTACCGGG	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1506A>G	6.37:g.90660319T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_001170794	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																			T|0.695;C|0.305	0.305	strong		0.662	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		C	90660319	T	C	90660319	2	2	22	1	0	0	0	0	0	0	0	1	1284	1625	57	2		2	BACH2	6	90660319	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95077	90660319	80454748	3854	8962										
EPHA7	2045	hgsc.bcm.edu	37	chr6	93982100	93982100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagctcgacactccgctgCagtactctctccttcattac	6	15	2	0	rs34302170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:93982100C>T	ENST00000369303.4	-	6	1549	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTCCGCTGCAGTACTCTCT	0.438													C|||	206	0.0411342	0.152	0.0029	5008	,	,		18429	0.0		0.003	False		,,,				2504	0.0				p.L455L		Atlas-SNP	.											.	EPHA7	251	.	0			c.G1365A						PASS	.	C		517,3889	237.7+/-249.4	30,457,1716	204	194	197		1365	5.7	1	6	dbSNP_126	197	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	EPHA7	NM_004440.3		30,464,6009	TT,TC,CC		0.0814,11.734,4.0289		455/999	93982100	524,12482	2203	4300	6503	SO:0001819	synonymous_variant	2045	exon6			CCGCTGCAGTACT	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1365G>A	6.37:g.93982100C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	174	92	0.528736	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																			C|0.963;T|0.037	0.037	strong		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	93982100	C	T	93982100	2	4	22	1	0	0	0	0	0	0	0	1	5172	697	25	2		2	EPHA7	6	93982100	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3321781	93982100	77132967	3855	8963										
FHL5	9457	hgsc.bcm.edu	37	chr6	97058567	97058567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtccagagacgactatccAttctgcgtggactgctacaa	9	11	1	1	rs2273622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97058567A>G	ENST00000326771.2	+	6	1004	c.624A>G	c.(622-624)ccA>ccG	p.P208P	FHL5_ENST00000541107.1_Silent_p.P208P	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	208	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACGACTATCCATTCTGCGTGG	0.428													A|||	689	0.13758	0.115	0.183	5008	,	,		18288	0.0357		0.2117	False		,,,				2504	0.1646				p.P208P		Atlas-SNP	.											FHL5,NS,malignant_melanoma,+2,1	FHL5	73	1	0			c.A624G						scavenged	.	A	,	492,3914	228.1+/-243.1	25,442,1736	245	225	232		624,624	-3.3	1	6	dbSNP_100	232	1673,6927	307.0+/-308.2	175,1323,2802	no	coding-synonymous,coding-synonymous	FHL5	NM_001170807.1,NM_020482.4	,	200,1765,4538	GG,GA,AA		19.4535,11.1666,16.6462	,	208/285,208/285	97058567	2165,10841	2203	4300	6503	SO:0001819	synonymous_variant	9457	exon6			CTATCCATTCTGC	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.624A>G	6.37:g.97058567A>G		Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	211	107	0.507109	NM_020482	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	CCDS5035.1																																																																																			A|0.841;G|0.159	0.159	strong		0.428	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		G	97058567	A	G	97058567	2	3	22	1	0	0	0	0	0	0	0	1	5881	204	8	2		2	FHL5	6	97058567	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3076467	97058567	74056500	3856	8964										
KLHL32	114792	hgsc.bcm.edu	37	chr6	97512577	97512577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctgttggagcttctcaAtttatgctcccactatctca	6	12	2	0	rs2294763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97512577A>G	ENST00000369261.4	+	5	749	c.386A>G	c.(385-387)aAt>aGt	p.N129S	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.N93S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	129			N -> S (in dbSNP:rs2294763).					p.N129S(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAGCTTCTCAATTTATGCTCC	0.468													A|||	301	0.0601038	0.1157	0.0288	5008	,	,		18851	0.0804		0.0179	False		,,,				2504	0.0297				p.N129S		Atlas-SNP	.											KLHL32,NS,carcinoma,0,1	KLHL32	85	1	1	Substitution - Missense(1)	stomach(1)	c.A386G						PASS	.	A	SER/ASN	474,3932	224.3+/-240.5	20,434,1749	145	108	120		386	1.9	0.9	6	dbSNP_100	120	190,8410	85.3+/-147.7	2,186,4112	yes	missense	KLHL32	NM_052904.3	46	22,620,5861	GG,GA,AA		2.2093,10.7581,5.1053	benign	129/621	97512577	664,12342	2203	4300	6503	SO:0001583	missense	114792	exon5			TTCTCAATTTATG	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.386A>G	6.37:g.97512577A>G	ENSP00000358265:p.Asn129Ser	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	150	64	0.426667	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	135	0.061813186813186816	58	0.11788617886178862	12	0.03314917127071823	53	0.09265734265734266	12	0.0158311345646438	A	13.41	2.227809	0.39399	0.107581	0.022093	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000369254;ENST00000447886	T;T;T;T	0.67523	-0.27;1.98;-0.27;1.94	5.54	1.89	0.25635	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.179966	0.64402	N	0.000016	T	0.24353	0.0590	N	0.11023	0.085	0.09310	P	1.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.03315	-1.1049	9	0.51188	T	0.08	.	8.4836	0.33059	0.6357:0.0:0.3643:0.0	rs2294763;rs52827164;rs56862294;rs2294763	93;129;129	B7Z346;Q96NJ5;Q6IQ08	.;KLH32_HUMAN;.	S	55;129;93;129;25	ENSP00000358265:N129S;ENSP00000440382:N93S;ENSP00000358258:N129S;ENSP00000389310:N25S	ENSP00000358258:N129S	N	+	2	0	KLHL32	97619298	0.997000	0.39634	0.912000	0.35992	0.995000	0.86356	2.070000	0.41491	0.185000	0.20105	0.528000	0.53228	AAT	A|0.940;G|0.060	0.060	strong		0.468	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		G	97512577	A	G	97512577	3	3	22	1	0	0	0	0	1	0	0	0	8386	101	4	2	400	2	KLHL32	6	97512577	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	454010	97512577	73602490	3857	8965										
KLHL32	114792	hgsc.bcm.edu	37	chr6	97533193	97533193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagcgaccgcctgacctcCctgagtgaagagcagatctg	12	12	1	6	rs551403903		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97533193C>A	ENST00000369261.4	+	6	966	c.603C>A	c.(601-603)tcC>tcA	p.S201S	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.S132S|KLHL32_ENST00000536676.1_Silent_p.S165S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	201										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GCCTGACCTCCCTGAGTGAAG	0.527																																					p.S201S		Atlas-SNP	.											KLHL32,mouth,carcinoma,+1,1	KLHL32	85	1	0			c.C603A						PASS	.						57	57	57					6																	97533193		2203	4300	6503	SO:0001819	synonymous_variant	114792	exon6			GACCTCCCTGAGT	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.603C>A	6.37:g.97533193C>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	CCDS5038.1																																																																																			.	.	none		0.527	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		A	97533193	C	A	97533193	2	1	22	1	0	0	0	0	0	0	0	1	8386	610	22	4		4	KLHL32	6	97533193	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20616	97533193	73581874	3858	8966										
KLHL32	114792	hgsc.bcm.edu	37	chr6	97580539	97580539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttactttaggccaaaatgaAtctggagttgctgtccataa	8	7	1	1	rs13208956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97580539A>G	ENST00000369261.4	+	10	1980	c.1617A>G	c.(1615-1617)gaA>gaG	p.E539E	KLHL32_ENST00000544166.1_Silent_p.E95E|KLHL32_ENST00000539200.1_Silent_p.E470E|KLHL32_ENST00000536676.1_Silent_p.E503E	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	539										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GCCAAAATGAATCTGGAGTTG	0.343													A|||	154	0.0307508	0.0484	0.0202	5008	,	,		17594	0.001		0.0298	False		,,,				2504	0.046				p.E539E		Atlas-SNP	.											KLHL32,neck,malignant_melanoma,+2,1	KLHL32	85	1	0			c.A1617G						PASS	.	A		178,4228	115.0+/-153.0	5,168,2030	108	108	108		1617	5.6	1	6	dbSNP_121	108	340,8260	117.2+/-176.8	2,336,3962	no	coding-synonymous	KLHL32	NM_052904.3		7,504,5992	GG,GA,AA		3.9535,4.0399,3.9828		539/621	97580539	518,12488	2203	4300	6503	SO:0001819	synonymous_variant	114792	exon10			AAATGAATCTGGA	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1617A>G	6.37:g.97580539A>G		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	CCDS5038.1																																																																																			A|0.967;G|0.033	0.033	strong		0.343	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		G	97580539	A	G	97580539	2	3	22	1	0	0	0	0	0	0	0	1	8386	98	4	2		2	KLHL32	6	97580539	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47346	97580539	73534528	3859	8967										
C6orf167	253714	hgsc.bcm.edu	37	chr6	97613163	97613163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttagagatgatattggTggaatagtggctgtgtttct	12	3	2	2	rs1209290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97613163T>C	ENST00000275053.4	-	21	3445	c.3180A>G	c.(3178-3180)ccA>ccG	p.P1060P	MMS22L_ENST00000369251.2_Silent_p.P1020P	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1060					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGATATTGGTGGAATAGTGG	0.353													C|||	2558	0.510783	0.7209	0.4078	5008	,	,		16517	0.246		0.497	False		,,,				2504	0.5869				p.P1060P		Atlas-SNP	.											.	MMS22L	102	.	0			c.A3180G						PASS	.	C		2983,1423	464.9+/-354.0	1004,975,224	107	109	109		3180	-3.8	0	6	dbSNP_87	109	4410,4190	568.3+/-389.0	1135,2140,1025	no	coding-synonymous	MMS22L	NM_198468.2		2139,3115,1249	CC,CT,TT		48.7209,32.2969,43.157		1060/1244	97613163	7393,5613	2203	4300	6503	SO:0001819	synonymous_variant	253714	exon21			TATTGGTGGAATA		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3180A>G	6.37:g.97613163T>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	106	105	0.990566	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	CCDS5039.1																																																																																			T|0.475;C|0.525	0.525	strong		0.353	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		C	97613163	T	C	97613163	2	2	22	1	0	0	0	0	0	0	0	1	2342	1683	59	2		2	C6orf167	6	97613163	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32624	97613163	73501904	3860	8968										
C6orf167	253714	hgsc.bcm.edu	37	chr6	97613299	97613299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgattcaaataggcattcGgattttgagattgacaacac	8	6	1	3	rs10484830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:97613299G>A	ENST00000275053.4	-	21	3309	c.3044C>T	c.(3043-3045)cCg>cTg	p.P1015L	MMS22L_ENST00000369251.2_Missense_Mutation_p.P975L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1015			P -> L (in dbSNP:rs10484830).		double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATAGGCATTCGGATTTTGAGA	0.353													G|||	486	0.0970447	0.2935	0.0317	5008	,	,		17448	0.001		0.0298	False		,,,				2504	0.046				p.P1015L		Atlas-SNP	.											.	MMS22L	102	.	0			c.C3044T						PASS	.	G	LEU/PRO	1079,3327	389.3+/-327.3	136,807,1260	86	78	81		3044	4.7	1	6	dbSNP_119	81	346,8254	117.7+/-177.3	3,340,3957	yes	missense	MMS22L	NM_198468.2	98	139,1147,5217	AA,AG,GG		4.0233,24.4893,10.9565	benign	1015/1244	97613299	1425,11581	2203	4300	6503	SO:0001583	missense	253714	exon21			GCATTCGGATTTT		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3044C>T	6.37:g.97613299G>A	ENSP00000275053:p.Pro1015Leu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	42	0.47191	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	181	0.08287545787545787	138	0.2804878048780488	14	0.03867403314917127	1	0.0017482517482517483	28	0.036939313984168866	G	14.46	2.541625	0.45280	0.244893	0.040233	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.28255	1.62;1.62	5.65	4.7	0.59300	.	0.288860	0.38720	N	0.001593	T	0.10723	0.0262	L	0.40543	1.245	0.31635	P	0.648543	B;B	0.31680	0.335;0.335	B;B	0.25614	0.062;0.038	T	0.08764	-1.0706	9	0.41790	T	0.15	-3.6329	8.0473	0.30557	0.0:0.1139:0.4797:0.4064	rs10484830;rs52811524;rs10484830	975;1015	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	1015;975	ENSP00000275053:P1015L;ENSP00000358254:P975L	ENSP00000275053:P1015L	P	-	2	0	MMS22L	97720020	0.999000	0.42202	0.999000	0.59377	0.913000	0.54294	2.661000	0.46758	2.647000	0.89833	0.655000	0.94253	CCG	G|0.898;A|0.102	0.102	strong		0.353	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		A	97613299	G	A	97613299	3	1	22	1	0	0	0	0	1	0	0	0	2342	1116	39	1	707	1	C6orf167	6	97613299	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136	97613299	73501768	3861	8969										
FBXL4	26235	hgsc.bcm.edu	37	chr6	99374436	99374436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccgggatgataggtttcTagaacatgtacagctgtagg	13	7	1	2	rs17058965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:99374436T>C	ENST00000369244.2	-	4	857	c.429A>G	c.(427-429)ctA>ctG	p.L143L	FBXL4_ENST00000229971.1_Silent_p.L143L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	143					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GATAGGTTTCTAGAACATGTA	0.418													T|||	21	0.00419329	0.0151	0.0014	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.0				p.L143L		Atlas-SNP	.											.	FBXL4	54	.	0			c.A429G						PASS	.	T		59,4347	57.4+/-93.9	0,59,2144	93	82	86		429	1.5	1	6	dbSNP_123	86	0,8600		0,0,4300	no	coding-synonymous	FBXL4	NM_012160.3		0,59,6444	CC,CT,TT		0.0,1.3391,0.4536		143/622	99374436	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	26235	exon3			GGTTTCTAGAACA	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.429A>G	6.37:g.99374436T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	157	78	0.496815	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	CCDS5041.1																																																																																			T|0.996;C|0.004	0.004	strong		0.418	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			C	99374436	T	C	99374436	2	2	22	1	0	0	0	0	0	0	0	1	5721	1509	53	3		3	FBXL4	6	99374436	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1761137	99374436	71740631	3862	8970										
COQ3	51805	hgsc.bcm.edu	37	chr6	99825348	99825348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtgattaggaattgtttTcagaagattgtccctttttt	9	5	1	3	rs11548336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:99825348T>C	ENST00000254759.3	-	4	424	c.400A>G	c.(400-402)Aaa>Gaa	p.K134E	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369240.1_5'Flank|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	134			K -> E (in dbSNP:rs11548336). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GGAATTGTTTTCAGAAGATTG	0.348													T|||	1594	0.318291	0.2428	0.2017	5008	,	,		12394	0.496		0.3151	False		,,,				2504	0.3231				p.K134E		Atlas-SNP	.											.	COQ3	19	.	0			c.A400G						PASS	.	T	GLU/LYS	1205,3201	401.9+/-332.2	174,857,1172	76	67	70		400	5.6	1	6	dbSNP_120	70	2586,6014	400.1+/-346.7	406,1774,2120	yes	missense	COQ3	NM_017421.3	56	580,2631,3292	CC,CT,TT		30.0698,27.3491,29.1481	benign	134/370	99825348	3791,9215	2203	4300	6503	SO:0001583	missense	51805	exon4			TTGTTTTCAGAAG	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.400A>G	6.37:g.99825348T>C	ENSP00000254759:p.Lys134Glu	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	63	27	0.428571	NM_017421	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	CCDS5042.1	704	0.32234432234432236	122	0.24796747967479674	79	0.21823204419889503	253	0.4423076923076923	250	0.32981530343007914	T	15.33	2.802452	0.50315	0.273491	0.300698	ENSG00000132423	ENST00000254759	T	0.13420	2.59	5.61	5.61	0.85477	.	0.196194	0.51477	D	0.000085	T	0.04137	0.0115	N	0.21617	0.685	0.09310	P	1.0	B	0.21821	0.061	B	0.20184	0.028	T	0.34925	-0.9809	9	0.22109	T	0.4	-30.8554	14.3797	0.66902	0.0:0.0:0.0:1.0	rs11548336;rs17355554;rs45447894;rs58257605	134	Q9NZJ6	COQ3_HUMAN	E	134	ENSP00000254759:K134E	ENSP00000254759:K134E	K	-	1	0	COQ3	99932069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.681000	0.74523	2.147000	0.66899	0.477000	0.44152	AAA	T|0.701;C|0.299	0.299	strong		0.348	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		C	99825348	T	C	99825348	3	2	22	1	0	0	0	0	1	0	0	0	3746	1792	62	2	725	2	COQ3	6	99825348	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	450912	99825348	71289719	3863	8971										
USP45	85015	hgsc.bcm.edu	37	chr6	99893938	99893938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgtcaaaatcttgatcTccagttacagtgctgctcaa	6	11	5	1	rs4504482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:99893938T>C	ENST00000327681.6	-	14	2242	c.1710A>G	c.(1708-1710)ggA>ggG	p.G570G	USP45_ENST00000392738.2_Silent_p.G250G|USP45_ENST00000500704.2_Silent_p.G570G|USP45_ENST00000369233.2_Silent_p.G522G|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	570	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AATCTTGATCTCCAGTTACAG	0.388													T|||	1757	0.350839	0.2042	0.3689	5008	,	,		18479	0.4871		0.331	False		,,,				2504	0.4162				p.G570G		Atlas-SNP	.											.	USP45	56	.	0			c.A1710G						PASS	.	T		1015,3391	361.6+/-315.8	115,785,1303	57	60	59		1710	1.2	0	6	dbSNP_111	59	2538,6062	413.0+/-351.0	358,1822,2120	yes	coding-synonymous	USP45	NM_001080481.1		473,2607,3423	CC,CT,TT		29.5116,23.0368,27.3182		570/815	99893938	3553,9453	2203	4300	6503	SO:0001819	synonymous_variant	85015	exon14			TTGATCTCCAGTT	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1710A>G	6.37:g.99893938T>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	37	36	0.972973	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																			T|0.693;C|0.307	0.307	strong		0.388	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99893938	T	C	99893938	2	2	22	1	0	0	0	0	0	0	0	1	17073	1538	54	3		3	USP45	6	99893938	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68590	99893938	71221129	3864	8972										
PREP	5550	hgsc.bcm.edu	37	chr6	105776792	105776792	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgccgacatcgagcggGaaggtcttaaggagagcacc	14	10	1	1	rs6902415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:105776792G>A	ENST00000369110.3	-	9	1317	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	375					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CATCGAGCGGGAAGGTCTTAA	0.463													G|||	1158	0.23123	0.6241	0.0735	5008	,	,		17509	0.0704		0.0676	False		,,,				2504	0.1462				p.F375F		Atlas-SNP	.											.	PREP	65	.	0			c.C1125T						PASS	.	G		2312,2094	604.8+/-390.4	618,1076,509	128	126	127		1125	1.6	1	6	dbSNP_116	127	540,8060	149.1+/-204.2	20,500,3780	no	coding-synonymous	PREP	NM_002726.4		638,1576,4289	AA,AG,GG		6.2791,47.5261,21.9283		375/711	105776792	2852,10154	2203	4300	6503	SO:0001819	synonymous_variant	5550	exon9			GAGCGGGAAGGTC		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1125C>T	6.37:g.105776792G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_002726	Q8N6D4	Silent	SNP	ENST00000369110.3	37	CCDS5053.1																																																																																			G|0.789;A|0.211	0.211	strong		0.463	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			A	105776792	G	A	105776792	2	1	22	1	0	0	0	0	0	0	0	1	12474	1165	41	2		2	PREP	6	105776792	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5882854	105776792	65338275	3865	8973										
PREP	5550	hgsc.bcm.edu	37	chr6	105821449	105821449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccatcttcgctgaacgcAtaacctatgggacacaggag	9	12	2	1	rs9486069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:105821449A>G	ENST00000369110.3	-	5	582	c.390T>C	c.(388-390)taT>taC	p.Y130Y		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	130					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGCTGAACGCATAACCTATGG	0.463													G|||	1743	0.348043	0.8215	0.1988	5008	,	,		22397	0.002		0.2932	False		,,,				2504	0.227				p.Y130Y		Atlas-SNP	.											.	PREP	65	.	0			c.T390C						PASS	.	G		3241,1165	407.8+/-334.4	1209,823,171	71	65	67		390	3.5	1	6	dbSNP_119	67	2406,6194	699.6+/-405.1	341,1724,2235	no	coding-synonymous	PREP	NM_002726.4		1550,2547,2406	GG,GA,AA		27.9767,26.4412,43.4184		130/711	105821449	5647,7359	2203	4300	6503	SO:0001819	synonymous_variant	5550	exon5			GAACGCATAACCT		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.390T>C	6.37:g.105821449A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	89	43	0.483146	NM_002726	Q8N6D4	Silent	SNP	ENST00000369110.3	37	CCDS5053.1																																																																																			A|0.586;G|0.414	0.414	strong		0.463	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			G	105821449	A	G	105821449	2	3	22	1	0	0	0	0	0	0	0	1	12474	224	8	2		2	PREP	6	105821449	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44657	105821449	65293618	3866	8974										
PRDM1	639	hgsc.bcm.edu	37	chr6	106536253	106536253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggattctggtgctgatggcGgtacttcggttcaggcggag	18	7	2	1	rs2185379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:106536253G>A	ENST00000369096.4	+	2	454	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	PRDM1_ENST00000369091.2_Missense_Mutation_p.G38S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	74			G -> S (in dbSNP:rs2185379).		cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCTGATGGCGGTACTTCGGT	0.488			"D, N, Mis, F, S"		DLBCL								G|||	295	0.0589058	0.0658	0.0476	5008	,	,		19692	0.0784		0.0318	False		,,,				2504	0.0654				p.G74S		Atlas-SNP	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	.	PRDM1	195	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.G220A						PASS	.	G	SER/GLY	310,4096	167.3+/-198.3	10,290,1903	216	190	199		220	4	0.9	6	dbSNP_96	199	278,8322	104.8+/-165.8	7,264,4029	yes	missense	PRDM1	NM_001198.3	56	17,554,5932	AA,AG,GG		3.2326,7.0359,4.521	benign	74/826	106536253	588,12418	2203	4300	6503	SO:0001583	missense	639	exon2			GATGGCGGTACTT		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.220G>A	6.37:g.106536253G>A	ENSP00000358092:p.Gly74Ser	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	273	131	0.479853	NM_001198	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	126	0.057692307692307696	36	0.07317073170731707	18	0.049723756906077346	45	0.07867132867132867	27	0.03562005277044855	G	0.021	-1.425252	0.01126	0.070359	0.032326	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000424894	T;T;T	0.41758	3.33;3.25;0.99	5.8	4.01	0.46588	.	0.401077	0.28349	N	0.015662	T	0.13157	0.0319	L	0.46157	1.445	0.29381	N	0.863344	B	0.16166	0.016	B	0.09377	0.004	T	0.17228	-1.0376	10	0.11182	T	0.66	-12.5745	8.0928	0.30811	0.2895:0.0:0.7105:0.0	rs2185379;rs3747785;rs2185379	74	O75626	PRDM1_HUMAN	S	38;74;38;38	ENSP00000358087:G38S;ENSP00000358092:G74S;ENSP00000395566:G38S	ENSP00000358087:G38S	G	+	1	0	PRDM1	106642946	1.000000	0.71417	0.883000	0.34634	0.041000	0.13682	2.661000	0.46758	1.463000	0.47967	0.563000	0.77884	GGT	G|0.948;A|0.052	0.052	strong		0.488	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106536253	G	A	106536253	3	1	22	1	0	0	0	0	1	0	0	0	12450	1116	39	1	226	1	PRDM1	6	106536253	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	714804	106536253	64578814	3867	8975										
AIM1	202	hgsc.bcm.edu	37	chr6	106960447	106960447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctccgctgcgagcccagaGtccaagcccagccccggtac	11	19	0	1	rs11152999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:106960447G>A	ENST00000369066.3	+	1	718	c.231G>A	c.(229-231)gaG>gaA	p.E77E		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)		CGAGCCCAGAGTCCAAGCCCA	0.677													G|||	1274	0.254393	0.1135	0.3026	5008	,	,		14075	0.4395		0.166	False		,,,				2504	0.3108				p.E77E		Atlas-SNP	.											.	AIM1	161	.	0			c.G231A						PASS	.	G		504,3782		37,430,1676	10	11	11		231	2.7	0	6	dbSNP_120	11	1197,7241		91,1015,3113	no	coding-synonymous	AIM1	NM_001624.2		128,1445,4789	AA,AG,GG		14.1858,11.7592,13.3684		77/1724	106960447	1701,11023	2143	4219	6362	SO:0001819	synonymous_variant	202	exon1			CCCAGAGTCCAAG	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.231G>A	6.37:g.106960447G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	92	38	0.413043	NM_001624	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																			G|0.804;A|0.196	0.196	strong		0.677	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			A	106960447	G	A	106960447	2	1	22	1	0	0	0	0	0	0	0	1	430	1020	36	2		2	AIM1	6	106960447	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	424194	106960447	64154620	3868	8976										
AIM1	202	hgsc.bcm.edu	37	chr6	106967778	106967778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccataagcagtttcccaTgcactgatctaaaagtgtca	6	12	2	1	rs3747787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:106967778T>C	ENST00000369066.3	+	2	1958	c.1471T>C	c.(1471-1473)Tgc>Cgc	p.C491R		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)		CAGTTTCCCATGCACTGATCT	0.458													T|||	872	0.174121	0.1808	0.1354	5008	,	,		22330	0.1161		0.2515	False		,,,				2504	0.1728				p.C491R		Atlas-SNP	.											.	AIM1	161	.	0			c.T1471C						PASS	.	T	ARG/CYS	733,3673	297.8+/-285.0	58,617,1528	83	89	87		1471	-5.8	0	6	dbSNP_107	87	2104,6496	356.3+/-330.2	259,1586,2455	yes	missense	AIM1	NM_001624.2	180	317,2203,3983	CC,CT,TT		24.4651,16.6364,21.813	benign	491/1724	106967778	2837,10169	2203	4300	6503	SO:0001583	missense	202	exon2			TTCCCATGCACTG	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.1471T>C	6.37:g.106967778T>C	ENSP00000358062:p.Cys491Arg	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	195	94	0.482051	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	390	0.17857142857142858	92	0.18699186991869918	57	0.1574585635359116	56	0.0979020979020979	185	0.24406332453825857	T	10.37	1.330824	0.24167	0.166364	0.244651	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71341	-0.56	6.17	-5.75	0.02384	.	1.231230	0.05863	N	0.623317	T	0.23210	0.0561	N	0.20685	0.6	0.53005	P	3.500000000000725E-5	B	0.06786	0.001	B	0.06405	0.002	T	0.05131	-1.0904	9	0.23891	T	0.37	.	2.4107	0.04423	0.2004:0.1489:0.4535:0.1972	rs3747787;rs17495394;rs52819883;rs58298313;rs3747787	491	Q9Y4K1	AIM1_HUMAN	R	899;491	ENSP00000358062:C491R	ENSP00000285105:C899R	C	+	1	0	AIM1	107074471	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.826000	0.04429	-0.749000	0.04747	0.533000	0.62120	TGC	T|0.805;C|0.195	0.195	strong		0.458	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			C	106967778	T	C	106967778	3	2	22	1	0	0	0	0	1	0	0	0	430	1464	51	2	1477	2	AIM1	6	106967778	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7331	106967778	64147289	3869	8977										
RTN4IP1	84816	hgsc.bcm.edu	37	chr6	107019880	107019880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatttttatttaaacaacAttaattacagtctttcctcg	3	8	1	0	rs9486410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:107019880A>G	ENST00000369063.3	-	9	1647	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	394						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTAAACAACATTAATTACAG	0.383													G|||	929	0.185503	0.3011	0.1081	5008	,	,		19931	0.1696		0.1561	False		,,,				2504	0.1309				p.N394N		Atlas-SNP	.											RTN4IP1,NS,carcinoma,-2,1	RTN4IP1	31	1	0			c.T1182C						PASS	.	G		1228,3178	706.5+/-407.4	171,886,1146	111	105	107		1182	-0.6	0	6	dbSNP_119	107	981,7619	773.9+/-407.7	54,873,3373	no	coding-synonymous	RTN4IP1	NM_032730.4		225,1759,4519	GG,GA,AA		11.407,27.8711,16.9845		394/397	107019880	2209,10797	2203	4300	6503	SO:0001819	synonymous_variant	84816	exon9			AACAACATTAATT	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1182T>C	6.37:g.107019880A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	119	44	0.369748	NM_032730	Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	ENST00000369063.3	37	CCDS5056.1																																																																																			A|0.834;G|0.166	0.166	strong		0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			G	107019880	A	G	107019880	2	3	22	1	0	0	0	0	0	0	0	1	13729	214	8	2		2	RTN4IP1	6	107019880	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52102	107019880	64095187	3870	8978										
RTN4IP1	84816	hgsc.bcm.edu	37	chr6	107076783	107076783	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggcatgacagtgctcctAggagaggtagtactaatcct	12	9	0	2	rs1987623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:107076783A>T	ENST00000369063.3	-	1	579	c.114T>A	c.(112-114)ccT>ccA	p.P38P	QRSL1_ENST00000369046.4_5'Flank|QRSL1_ENST00000369044.1_5'Flank|RTN4IP1_ENST00000539449.1_Silent_p.P38P	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	38						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CAGTGCTCCTAGGAGAGGTAG	0.423													T|||	2340	0.467252	0.6074	0.5029	5008	,	,		19829	0.622		0.3181	False		,,,				2504	0.2464				p.P38P		Atlas-SNP	.											.	RTN4IP1	31	.	0			c.T114A						PASS	.	T		2533,1873	539.8+/-375.3	731,1071,401	126	116	119		114	-5.1	0.9	6	dbSNP_92	119	2365,6235	701.5+/-405.2	313,1739,2248	no	coding-synonymous	RTN4IP1	NM_032730.4		1044,2810,2649	TT,TA,AA		27.5,42.5102,37.6595		38/397	107076783	4898,8108	2203	4300	6503	SO:0001819	synonymous_variant	84816	exon1			GCTCCTAGGAGAG	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.114T>A	6.37:g.107076783A>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	132	53	0.401515	NM_032730	Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	ENST00000369063.3	37	CCDS5056.1																																																																																			A|0.608;T|0.392	0.392	strong		0.423	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			T	107076783	A	T	107076783	2	4	22	1	0	0	0	0	0	0	0	1	13729	407	15	5		5	RTN4IP1	6	107076783	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	56903	107076783	64038284	3871	8979										
SCML4	256380	hgsc.bcm.edu	37	chr6	108026455	108026455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtagcagagtttcagtgcAggtcccagcttcaggcccag	13	11	2	1	rs1546960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108026455A>G	ENST00000369020.3	-	8	1439	c.1194T>C	c.(1192-1194)ccT>ccC	p.P398P	SCML4_ENST00000369022.2_Silent_p.P340P|SCML4_ENST00000369025.2_Silent_p.P156P	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GTTTCAGTGCAGGTCCCAGCT	0.458											OREG0017598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	4505	0.899561	0.8328	0.928	5008	,	,		17797	0.8998		0.9274	False		,,,				2504	0.9407				p.P398P		Atlas-SNP	.											.	SCML4	65	.	0			c.T1194C						PASS	.	G		1162,222		490,182,20	148	116	126		1194	-5.4	0.3	6	dbSNP_88	126	2909,273		1331,247,13	no	coding-synonymous	SCML4	NM_198081.3		1821,429,33	GG,GA,AA		8.5795,16.0405,10.841		398/415	108026455	4071,495	692	1591	2283	SO:0001819	synonymous_variant	256380	exon8			CAGTGCAGGTCCC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.1194T>C	6.37:g.108026455A>G		Somatic	128	1	0.0078125	1409	WXS	Illumina HiSeq	Phase_I	104	104	1	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			A|0.095;G|0.905	0.905	strong		0.458	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		G	108026455	A	G	108026455	2	3	22	1	0	0	0	0	0	0	0	1	13911	175	7	3		3	SCML4	6	108026455	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	949672	108026455	63088612	3872	8980										
SCML4	256380	hgsc.bcm.edu	37	chr6	108029091	108029091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttctgaagagctccacGtgaggccccagagcctgtgg	13	12	1	4	rs3734753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108029091G>A	ENST00000369020.3	-	7	1343	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	SCML4_ENST00000369022.2_Silent_p.H308H|SCML4_ENST00000369025.2_Silent_p.H124H	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGAGCTCCACGTGAGGCCCCA	0.637													G|||	270	0.0539137	0.053	0.0144	5008	,	,		18839	0.1677		0.0169	False		,,,				2504	0.0041				p.H366H		Atlas-SNP	.											.	SCML4	65	.	0			c.C1098T						PASS	.	G		85,1299		1,83,608	44	52	49		1098	-0.3	1	6	dbSNP_107	49	64,3118		4,56,1531	no	coding-synonymous	SCML4	NM_198081.3		5,139,2139	AA,AG,GG		2.0113,6.1416,3.2633		366/415	108029091	149,4417	692	1591	2283	SO:0001819	synonymous_variant	256380	exon7			CTCCACGTGAGGC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.1098C>T	6.37:g.108029091G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	148	65	0.439189	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			G|0.941;A|0.059	0.059	strong		0.637	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		A	108029091	G	A	108029091	2	1	22	1	0	0	0	0	0	0	0	1	13911	1136	40	1		1	SCML4	6	108029091	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2636	108029091	63085976	3873	8981										
SCML4	256380	hgsc.bcm.edu	37	chr6	108029109	108029109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtgaggccccagagcctgTgggtcggcgtccttcacaaa	13	13	1	2	rs3734754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108029109T>C	ENST00000369020.3	-	7	1325	c.1080A>G	c.(1078-1080)ccA>ccG	p.P360P	SCML4_ENST00000369022.2_Silent_p.P302P|SCML4_ENST00000369025.2_Silent_p.P118P	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CCAGAGCCTGTGGGTCGGCGT	0.632													C|||	1125	0.224641	0.1778	0.1354	5008	,	,		18716	0.369		0.1978	False		,,,				2504	0.2301				p.P360P		Atlas-SNP	.											SCML4_ENST00000369020,colon,carcinoma,0,1	SCML4	65	1	0			c.A1080G						PASS	.	C		272,1112		23,226,443	48	57	54		1080	-8.3	0.3	6	dbSNP_107	54	573,2609		54,465,1072	no	coding-synonymous	SCML4	NM_198081.3		77,691,1515	CC,CT,TT		18.0075,19.6532,18.5064		360/415	108029109	845,3721	692	1591	2283	SO:0001819	synonymous_variant	256380	exon7			AGCCTGTGGGTCG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.1080A>G	6.37:g.108029109T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	162	72	0.444444	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			T|0.784;C|0.216	0.216	strong		0.632	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		C	108029109	T	C	108029109	2	2	22	1	0	0	0	0	0	0	0	1	13911	1683	59	2		2	SCML4	6	108029109	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18	108029109	63085958	3874	8982										
SCML4	256380	hgsc.bcm.edu	37	chr6	108029133	108029133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggcgtccttcacaaaccaCaccacgtcctccacagtcca	5	19	1	0	rs61742583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108029133C>T	ENST00000369020.3	-	7	1301	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SCML4_ENST00000369022.2_Silent_p.V294V|SCML4_ENST00000369025.2_Silent_p.V110V	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	352	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCACAAACCACACCACGTCCT	0.627													C|||	64	0.0127796	0.0477	0.0014	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.0				p.V352V		Atlas-SNP	.											.	SCML4	65	.	0			c.G1056A						PASS	.	C		75,1309		0,75,617	54	63	60		1056	2.7	0.9	6	dbSNP_129	60	0,3182		0,0,1591	no	coding-synonymous	SCML4	NM_198081.3		0,75,2208	TT,TC,CC		0.0,5.4191,1.6426		352/415	108029133	75,4491	692	1591	2283	SO:0001819	synonymous_variant	256380	exon7			AAACCACACCACG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.1056G>A	6.37:g.108029133C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	171	78	0.45614	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			C|0.991;T|0.009	0.009	strong		0.627	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108029133	C	T	108029133	2	4	22	1	0	0	0	0	0	0	0	1	13911	465	17	2		2	SCML4	6	108029133	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24	108029133	63085934	3875	8983										
SEC63	11231	hgsc.bcm.edu	37	chr6	108214734	108214735	+	In_Frame_Ins	INS	-	-	GTA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttctgttgctttgactgtINSggtaatagcacaggtgtagg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108214734_108214735insGTA	ENST00000369002.4	-	16	1804_1805	c.1625_1626insTAC	c.(1624-1626)cca>ccTACa	p.542_543insT		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	542					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.P542Q(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCTTTGACTGTGGTAATAGCAC	0.322																																					p.P542delinsPT		Pindel,Atlas-Indel	.											.	SEC63	79	.	1	Substitution - Missense(1)	lung(1)	c.1626_1627insTAC						PASS	.			6,4258		0,6,2126						-3.9	0.9			138	0,8254		0,0,4127	no	coding	SEC63	NM_007214.4		0,6,6253	A1A1,A1R,RR		0.0,0.1407,0.0479				6,12512				SO:0001652	inframe_insertion	11231	exon16			.	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1625_1626insTAC	6.37:g.108214734_108214735insGTA	ENSP00000357998:p.Pro542_Gln543insThr	Somatic	104	.	.		WXS	Illumina HiSeq	Phase_I	110	39	0.355	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	In_Frame_Ins	INS	ENST00000369002.4	37	CCDS5061.1																																																																																			.	.	none		0.322	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		GTA	108214735	-	GTA	108214734	7	5	22	1	0	1	1	0	0	0	0	0	14005	1683	59	0	680	0	SEC63	6	108214734	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	185601	108214734	62900333	3876	8984										
FOXO3	2309	hgsc.bcm.edu	37	chr6	108882570	108882570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcgggggagacggccgcCgactccatgatccccgagga	14	16	0	2	rs11757217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:108882570C>T	ENST00000343882.6	+	2	463	c.159C>T	c.(157-159)gcC>gcT	p.A53A	FOXO3_ENST00000406360.1_Silent_p.A53A	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	53					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|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 translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		AGACGGCCGCCGACTCCATGA	0.731													C|||	923	0.184305	0.3147	0.2133	5008	,	,		10040	0.0526		0.1829	False		,,,				2504	0.1247				p.A53A		Atlas-SNP	.											FOXO3,brain,glioma,0,4	FOXO3	67	4	0			c.C159T						scavenged	.						3	3	3					6																	108882570		1560	3279	4839	SO:0001819	synonymous_variant	2309	exon1			GGCCGCCGACTCC	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.159C>T	6.37:g.108882570C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_001455	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	CCDS5068.1																																																																																			.	.	weak		0.731	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			T	108882570	C	T	108882570	2	4	22	1	0	0	0	0	0	0	0	1	6024	639	23	1		1	FOXO3	6	108882570	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	667836	108882570	62232497	3877	8985										
ARMC2	84071	hgsc.bcm.edu	37	chr6	109274527	109274527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggccgccaacccggggAtagtgggcctgctcctgacc	14	15	0	1	rs113651966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109274527A>G	ENST00000392644.4	+	13	2056	c.1888A>G	c.(1888-1890)Ata>Gta	p.I630V	ARMC2_ENST00000368972.3_Missense_Mutation_p.I465V	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	630										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAACCCGGGGATAGTGGGCCT	0.647													A|||	185	0.0369409	0.1354	0.0086	5008	,	,		15139	0.0		0.0	False		,,,				2504	0.0				p.I630V		Atlas-SNP	.											.	ARMC2	56	.	0			c.A1888G						PASS	.	A	VAL/ILE	364,4034		19,326,1854	19	22	21		1888	0.2	0	6	dbSNP_132	21	4,8582		0,4,4289	yes	missense	ARMC2	NM_032131.4	29	19,330,6143	GG,GA,AA		0.0466,8.2765,2.8343	benign	630/868	109274527	368,12616	2199	4293	6492	SO:0001583	missense	84071	exon13			CCGGGGATAGTGG	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1888A>G	6.37:g.109274527A>G	ENSP00000376417:p.Ile630Val	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	54	0.024725274725274724	52	0.10569105691056911	2	0.0055248618784530384	0	0.0	0	0.0	A	0.641	-0.813501	0.02798	0.082765	4.66E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.45276	0.9;0.9	5.77	0.178	0.15058	Armadillo-like helical (1);Armadillo-type fold (1);	0.543484	0.20833	N	0.084855	T	0.02807	0.0084	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36504	-0.9745	10	0.06891	T	0.86	.	1.986	0.03436	0.4394:0.1382:0.2977:0.1247	.	630	Q8NEN0	ARMC2_HUMAN	V	465;630	ENSP00000357968:I465V;ENSP00000376417:I630V	ENSP00000357968:I465V	I	+	1	0	ARMC2	109381220	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.009000	0.13219	-0.042000	0.13535	-0.249000	0.11873	ATA	A|0.969;G|0.031	0.031	strong		0.647	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		G	109274527	A	G	109274527	3	3	22	1	0	0	0	0	1	0	0	0	951	333	12	2	1934	2	ARMC2	6	109274527	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	391957	109274527	61840540	3878	8986										
SMPD2	6610	hgsc.bcm.edu	37	chr6	109762332	109762332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctccccaaccatgaagcCcaacttctccctgcgactgc	7	18	1	1	rs1048197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109762332C>T	ENST00000258052.3	+	1	367	c.8C>T	c.(7-9)cCc>cTc	p.P3L	PPIL6_ENST00000440797.2_5'UTR|PPIL6_ENST00000521072.2_5'UTR|PPIL6_ENST00000424445.2_5'UTR	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	3			P -> L (in dbSNP:rs1048197). {ECO:0000269|PubMed:9520418}.		apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACCATGAAGCCCAACTTCTCC	0.692													C|||	551	0.110024	0.0567	0.1196	5008	,	,		13807	0.1885		0.0408	False		,,,				2504	0.1656				p.P3L		Atlas-SNP	.											.	SMPD2	25	.	0			c.C8T						PASS	.	C	,LEU/PRO,	240,4166	140.0+/-175.5	9,222,1972	114	102	106		,8,	4.3	1	6	dbSNP_86	106	310,8290	111.4+/-171.7	6,298,3996	yes	utr-5,missense,utr-5	SMPD2,PPIL6	NM_001111298.2,NM_003080.2,NM_173672.4	,98,	15,520,5968	TT,TC,CC		3.6047,5.4471,4.2288	,benign,	,3/424,	109762332	550,12456	2203	4300	6503	SO:0001583	missense	6610	exon1			TGAAGCCCAACTT	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.8C>T	6.37:g.109762332C>T	ENSP00000258052:p.Pro3Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	99	34	0.343434	NM_003080	Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	226	0.10347985347985347	30	0.06097560975609756	33	0.09116022099447514	124	0.21678321678321677	39	0.051451187335092345	C	17.86	3.491942	0.64074	0.054471	0.036047	ENSG00000135587	ENST00000258052	T	0.21932	1.98	6.07	4.29	0.51040	.	0.541238	0.20354	N	0.093981	T	0.04048	0.0113	N	0.12182	0.205	0.31916	P	0.614042	B	0.14805	0.011	B	0.09377	0.004	T	0.26395	-1.0104	9	0.44086	T	0.13	-13.1166	7.7329	0.28797	0.1621:0.7564:0.0:0.0815	rs1048197;rs3173166;rs60798697;rs1048197	3	O60906	NSMA_HUMAN	L	3	ENSP00000258052:P3L	ENSP00000258052:P3L	P	+	2	0	SMPD2	109869025	0.000000	0.05858	0.999000	0.59377	0.964000	0.63967	0.030000	0.13688	0.883000	0.36040	0.655000	0.94253	CCC	C|0.925;T|0.075	0.075	strong		0.692	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			T	109762332	C	T	109762332	3	4	22	1	0	0	0	0	1	0	0	0	14805	623	22	2	10	2	SMPD2	6	109762332	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	487805	109762332	61352735	3879	8987										
SMPD2	6610	hgsc.bcm.edu	37	chr6	109764535	109764535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggctttgaccctcacagGggcacccccctctctgatca	8	17	3	2	rs1476387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109764535G>T	ENST00000258052.3	+	9	1154	c.795G>T	c.(793-795)agG>agT	p.R265S	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	265			R -> S (in dbSNP:rs1476387). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9520418}.		apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACCCTCACAGGGGCACCCCCC	0.527													T|||	2769	0.552915	0.7549	0.4928	5008	,	,		15276	0.4534		0.4314	False		,,,				2504	0.5501				p.R265S		Atlas-SNP	.											SMPD2,NS,carcinoma,0,1	SMPD2	25	1	0			c.G795T						PASS	.	T	SER/ARG	3071,1335	447.9+/-348.5	1072,927,204	82	87	85		795	-7.3	0	6	dbSNP_88	85	3627,4973	626.0+/-397.8	757,2113,1430	yes	missense	SMPD2	NM_003080.2	110	1829,3040,1634	TT,TG,GG		42.1744,30.2996,48.5007	benign	265/424	109764535	6698,6308	2203	4300	6503	SO:0001583	missense	6610	exon9			TCACAGGGGCACC	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.795G>T	6.37:g.109764535G>T	ENSP00000258052:p.Arg265Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	188	188	1	NM_003080	Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	1165|1165	0.5334249084249084|0.5334249084249084	369|369	0.75|0.75	176|176	0.4861878453038674|0.4861878453038674	292|292	0.5104895104895105|0.5104895104895105	328|328	0.43271767810026385|0.43271767810026385	T|T	0.004|0.004	-2.274012|-2.274012	0.00257|0.00257	0.697004|0.697004	0.421744|0.421744	ENSG00000135587|ENSG00000135587	ENST00000458487|ENST00000258052	.|T	.|0.80393	.|-1.37	5.95|5.95	-7.33|-7.33	0.01431|0.01431	.|Endonuclease/exonuclease/phosphatase (2);	.|1.368040	.|0.03834	.|N	.|0.269560	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.28618|0.28618	-1.0038|-1.0038	4|9	.|0.07325	.|T	.|0.83	1.5163|1.5163	3.582|3.582	0.07957|0.07957	0.1863:0.4025:0.0883:0.3229|0.1863:0.4025:0.0883:0.3229	rs1476387;rs17855992;rs60625554;rs1476387|rs1476387;rs17855992;rs60625554;rs1476387	.|265	.|O60906	.|NSMA_HUMAN	V|S	162|265	.|ENSP00000258052:R265S	.|ENSP00000258052:R265S	G|R	+|+	2|3	0|2	SMPD2|SMPD2	109871228|109871228	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.424000|-0.424000	0.07025|0.07025	-1.675000|-1.675000	0.01459|0.01459	-3.969000|-3.969000	0.00014|0.00014	GGG|AGG	A|0.000;G|0.469;T|0.531	0.531	strong		0.527	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			T	109764535	G	T	109764535	3	4	22	1	0	0	0	0	1	0	0	0	14805	1223	43	4	829	4	SMPD2	6	109764535	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2203	109764535	61350532	3880	8988										
SMPD2	6610	hgsc.bcm.edu	37	chr6	109764875	109764877	+	In_Frame_Del	DEL	GGA	GGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgtgtgtcctggcggctGgaggaggggccggggaagct					rs142982624|rs370460899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109764875_109764877delGGA	ENST00000258052.3	+	10	1398_1400	c.1039_1041delGGA	c.(1039-1041)ggadel	p.G349del	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	349					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCTGGCGGCTGGAGGAGGGGCCG	0.635														223	0.0445288	0.1573	0.0159	5008	,	,		16679	0.0		0.004	False		,,,				2504	0.0				p.346_347del		Pindel,Atlas-Indel	.											.	SMPD2	25	.	0			c.1038_1040del						PASS	.			602,3662		46,510,1576						-8.7	0		dbSNP_134	49	14,8240		3,8,4116	no	coding	SMPD2	NM_003080.2		49,518,5692	A1A1,A1R,RR		0.1696,14.1182,4.9209				616,11902				SO:0001651	inframe_deletion	6610	exon10			.	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1039_1041delGGA	6.37:g.109764878_109764880delGGA	ENSP00000258052:p.Gly349del	Somatic	123	.	.		WXS	Illumina HiSeq	Phase_I	102	34	0.333	NM_003080	Q5TED1|Q9BWR3	In_Frame_Del	DEL	ENST00000258052.3	37	CCDS5075.1																																																																																			GGA|0.957;-|0.043	0.043	strong		0.635	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			-	109764877	GGA	-	109764875	7	5	22	1	0	1	0	1	0	0	0	0	14805	1349	47	0	1077	0	SMPD2	6	109764875	In_Frame_Del	DEL	GGA	TCGA-G8-6324-01A-11D-2210-10	340	109764875	61350192	3881	8989										
MICAL1	64780	hgsc.bcm.edu	37	chr6	109767930	109767930	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctctatcgctgccttccGctttgtggtctgtctggggc					rs552227069|rs9320288|rs35260632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109767930G>T	ENST00000358807.3	-	18	2584	c.2273C>A	c.(2272-2274)gCg>gAg	p.A758E	MICAL1_ENST00000358577.3_Missense_Mutation_p.A672E|MICAL1_ENST00000368952.4_Missense_Mutation_p.A777E	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	758			A -> E (in dbSNP:rs9320288).|A -> K (requires 2 nucleotide substitutions; dbSNP:rs35260632). {ECO:0000269|PubMed:11827972, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.|A -> S (in dbSNP:rs59056467).|A -> T (in dbSNP:rs59056467).		actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTGCCTTCCGCTTTGTGGTC	0.572													T|||	2790	0.557109	0.7579	0.4971	5008	,	,		18500	0.4514		0.4453	False		,,,				2504	0.5521				p.A758E		Atlas-SNP	.											.	MICAL1	79	.	0			c.C2273A						PASS	.	T	GLU/ALA,GLU/ALA	3013,1393		1086,841,276	77	68	71		2015,2273	2.2	0	6	dbSNP_119	71	3274,5326		825,1624,1851	no	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	107,107	1911,2465,2127	TT,TG,GG		38.0698,31.616,48.3392	benign,benign	672/982,758/1068	109767930	6287,6719	2203	4300	6503	SO:0001583	missense	64780	exon18			CCTTCCGCTTTGT	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2273C>A	6.37:g.109767930G>T	ENSP00000351664:p.Ala758Glu	Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	261	261	1	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	1108	0.5073260073260073	358	0.7276422764227642	171	0.4723756906077348	268	0.46853146853146854	311	0.4102902374670185	T	0.142	-1.100897	0.01843	0.68384	0.380698	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.50277	0.76;0.75;0.76	4.88	2.24	0.28232	.	0.685752	0.13980	N	0.349545	T	0.03095	0.0091	N	0.00210	-1.845	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43048	-0.9415	9	0.02654	T	1	.	10.2069	0.43118	0.0:0.0:0.5225:0.4775	rs9320288;rs61598792	672;758	Q8TDZ2-2;Q8TDZ2	.;MICA1_HUMAN	E	758;777;672;282	ENSP00000351664:A758E;ENSP00000357948:A777E;ENSP00000351385:A672E	ENSP00000351385:A672E	A	-	2	0	MICAL1	109874623	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.565000	0.36386	0.400000	0.25396	-1.489000	0.00976	GCG	G|0.502;T|0.498	0.498	strong		0.572	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109767930	G	T	109767930	3	4	22	1	0	0	0	0	1	0	0	0	9569	1087	38	4	962	4	MICAL1	6	109767930	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3055	109767930	61347137	3882	8990	178	2								
MICAL1	64780	hgsc.bcm.edu	37	chr6	109767931	109767931	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctctatcgctgccttccgCtttgtggtctgtctggggca					rs59056467|rs35260632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109767931C>T	ENST00000358807.3	-	18	2583	c.2272G>A	c.(2272-2274)Gcg>Acg	p.A758T	MICAL1_ENST00000358577.3_Missense_Mutation_p.A672T|MICAL1_ENST00000368952.4_Missense_Mutation_p.A777T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	758			A -> E (in dbSNP:rs9320288).|A -> K (requires 2 nucleotide substitutions; dbSNP:rs35260632). {ECO:0000269|PubMed:11827972, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.|A -> S (in dbSNP:rs59056467).|A -> T (in dbSNP:rs59056467).		actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGCCTTCCGCTTTGTGGTCT	0.577													C|||	1559	0.311302	0.1936	0.3156	5008	,	,		18659	0.3482		0.3519	False		,,,				2504	0.3875				p.A758T		Atlas-SNP	.											.	MICAL1	79	.	0			c.G2272A						PASS	.	C	THR/ALA,THR/ALA	728,3678		104,520,1579	76	67	70		2014,2272	2.4	0	6	dbSNP_129	70	2206,6394		492,1222,2586	yes	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	58,58	596,1742,4165	TT,TC,CC		25.6512,16.5229,22.5588	benign,benign	672/982,758/1068	109767931	2934,10072	2203	4300	6503	SO:0001583	missense	64780	exon18			CTTCCGCTTTGTG	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2272G>A	6.37:g.109767931C>T	ENSP00000351664:p.Ala758Thr	Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	263	133	0.505703	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	672	0.3076923076923077	84	0.17073170731707318	113	0.31215469613259667	225	0.39335664335664333	250	0.32981530343007914	C	8.656	0.899389	0.17686	0.165229	0.256512	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.51574	0.7;0.7;0.7	4.23	2.43	0.29744	.	0.685752	0.13980	N	0.349545	T	0.08358	0.0208	N	0.08118	0	0.80722	P	0.0	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.27640	-1.0068	9	0.18276	T	0.48	.	5.1073	0.14790	0.205:0.6896:0.0:0.1054	rs59056467;rs61742212	672;758	Q8TDZ2-2;Q8TDZ2	.;MICA1_HUMAN	T	758;777;672;282	ENSP00000351664:A758T;ENSP00000357948:A777T;ENSP00000351385:A672T	ENSP00000351385:A672T	A	-	1	0	MICAL1	109874624	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	0.504000	0.22626	0.720000	0.32209	-0.314000	0.08810	GCG	C|0.695;G|0.000;T|0.305	0.305	strong		0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109767931	C	T	109767931	3	4	22	1	0	0	0	0	1	0	0	0	9569	797	28	2	963	2	MICAL1	6	109767931	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	109767931	61347136	3883	8991	178	2								
MICAL1	64780	hgsc.bcm.edu	37	chr6	109768295	109768295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatctcctgggtgctgctcGtagccacctggccacagtgt	11	15	1	0	rs910730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109768295G>A	ENST00000358807.3	-	17	2519	c.2208C>T	c.(2206-2208)taC>taT	p.Y736Y	MICAL1_ENST00000358577.3_Silent_p.Y650Y|MICAL1_ENST00000368952.4_Silent_p.Y755Y	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	736	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTGCTGCTCGTAGCCACCTG	0.617													A|||	2762	0.551518	0.7557	0.4928	5008	,	,		18102	0.4504		0.4284	False		,,,				2504	0.5481				p.Y736Y		Atlas-SNP	.											.	MICAL1	79	.	0			c.C2208T						PASS	.	A	,	3070,1336	439.4+/-345.7	1071,928,204	65	65	65		1950,2208	-6	0	6	dbSNP_86	65	3613,4987	619.4+/-396.9	753,2107,1440	no	coding-synonymous,coding-synonymous	MICAL1	NM_001159291.1,NM_022765.3	,	1824,3035,1644	AA,AG,GG		42.0116,30.3223,48.616	,	650/982,736/1068	109768295	6683,6323	2203	4300	6503	SO:0001819	synonymous_variant	64780	exon17			CTGCTCGTAGCCA	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2208C>T	6.37:g.109768295G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	CCDS5076.1																																																																																			G|0.464;A|0.536	0.536	strong		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109768295	G	A	109768295	2	1	22	1	0	0	0	0	0	0	0	1	9569	1140	40	1		1	MICAL1	6	109768295	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	364	109768295	61346772	3884	8992										
ZBTB24	9841	hgsc.bcm.edu	37	chr6	109787596	109787596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgctgctggcatctgaagCatgcttctccttgctatgaa	9	10	2	2	rs2232448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:109787596C>T	ENST00000230122.3	-	7	1719	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	518			A -> T (in dbSNP:rs2232448).		hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCATCTGAAGCATGCTTCTCC	0.463													C|||	418	0.0834665	0.2776	0.0346	5008	,	,		19894	0.0		0.0099	False		,,,				2504	0.0174				p.A518T		Atlas-SNP	.											.	ZBTB24	64	.	0			c.G1552A						PASS	.	C	THR/ALA	1041,3365	383.0+/-324.7	128,785,1290	120	111	114		1552	0.9	0	6	dbSNP_98	114	129,8471	64.9+/-127.2	0,129,4171	yes	missense	ZBTB24	NM_014797.2	58	128,914,5461	TT,TC,CC		1.5,23.6269,8.9958	benign	518/698	109787596	1170,11836	2203	4300	6503	SO:0001583	missense	9841	exon7			CTGAAGCATGCTT	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1552G>A	6.37:g.109787596C>T	ENSP00000230122:p.Ala518Thr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	132	77	0.583333	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	150	0.06868131868131869	131	0.266260162601626	14	0.03867403314917127	0	0.0	5	0.006596306068601583	C	5.706	0.314802	0.10789	0.236269	0.015	ENSG00000112365	ENST00000230122	T	0.11277	2.79	6.06	0.896	0.19253	.	1.043490	0.07456	N	0.899772	T	0.01189	0.0039	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47420	-0.9119	9	0.62326	D	0.03	0.2747	0.4792	0.00545	0.2407:0.3331:0.1937:0.2325	rs2232448;rs52798886;rs57567548;rs2232448	518	O43167	ZBT24_HUMAN	T	518	ENSP00000230122:A518T	ENSP00000230122:A518T	A	-	1	0	ZBTB24	109894289	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	0.142000	0.16096	0.444000	0.26612	0.655000	0.94253	GCT	C|0.918;T|0.082	0.082	strong		0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		T	109787596	C	T	109787596	3	4	22	1	0	0	0	0	1	0	0	0	17528	710	25	2	545	2	ZBTB24	6	109787596	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19301	109787596	61327471	3885	8993										
FIG4	9896	hgsc.bcm.edu	37	chr6	110064928	110064928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcccttcactttgaccagAtgttccagaggtttggctct	9	12	2	3	rs2295837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:110064928A>T	ENST00000230124.3	+	10	1214	c.1090A>T	c.(1090-1092)Atg>Ttg	p.M364L	FIG4_ENST00000441478.2_Missense_Mutation_p.M87L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	364	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.		M -> L (in dbSNP:rs2295837).		cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTTTGACCAGATGTTCCAGAG	0.438													A|||	501	0.10004	0.0174	0.1153	5008	,	,		17593	0.1984		0.0408	False		,,,				2504	0.1605				p.M364L		Atlas-SNP	.											.	FIG4	77	.	0			c.A1090T						PASS	.	A	LEU/MET	95,4311	76.8+/-115.0	0,95,2108	141	129	133		1090	4.9	1	6	dbSNP_100	133	307,8293	111.0+/-171.3	6,295,3999	yes	missense	FIG4	NM_014845.5	15	6,390,6107	TT,TA,AA		3.5698,2.1562,3.0909	benign	364/908	110064928	402,12604	2203	4300	6503	SO:0001583	missense	9896	exon10			GACCAGATGTTCC	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1090A>T	6.37:g.110064928A>T	ENSP00000230124:p.Met364Leu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	143	76	0.531469	NM_014845	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	216	0.0989010989010989	11	0.022357723577235773	30	0.08287292817679558	137	0.2395104895104895	38	0.05013192612137203	A	9.724	1.160495	0.21454	0.021562	0.035698	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.40476	1.03;1.03	4.88	4.88	0.63580	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	N	0.00385	-1.57	0.09310	P	0.99999639549	B;B	0.18610	0.0;0.029	B;B	0.16289	0.001;0.015	T	0.28299	-1.0048	9	0.02654	T	1	-12.8017	14.7843	0.69790	1.0:0.0:0.0:0.0	rs2295837;rs2295837	87;364	F5H8L9;Q92562	.;FIG4_HUMAN	L	87;364	ENSP00000399443:M87L;ENSP00000230124:M364L	ENSP00000230124:M364L	M	+	1	0	FIG4	110171621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.970000	0.93415	1.957000	0.56846	0.528000	0.53228	ATG	A|0.937;T|0.063	0.063	strong		0.438	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		T	110064928	A	T	110064928	3	4	22	1	0	0	0	0	1	0	0	0	5888	333	12	5	1128	5	FIG4	6	110064928	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	277332	110064928	61050139	3886	8994										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110777962	110777962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgatgtgttctccctcttAttcctgctacaccttgagag	7	13	2	1	rs6907567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:110777962A>G	ENST00000368919.3	-	2	378	c.312T>C	c.(310-312)aaT>aaC	p.N104N	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Silent_p.N104N|SLC22A16_ENST00000330550.4_Silent_p.N70N|SLC22A16_ENST00000456137.2_Silent_p.N104N	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	104					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TCTCCCTCTTATTCCTGCTAC	0.473													G|||	1573	0.314097	0.3888	0.2406	5008	,	,		19928	0.4107		0.2207	False		,,,				2504	0.2618				p.N104N		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T312C						PASS	.	G		1600,2806	663.6+/-401.2	281,1038,884	241	238	239		312	0.3	0	6	dbSNP_116	239	1917,6683	726.4+/-406.6	180,1557,2563	no	coding-synonymous	SLC22A16	NM_033125.2		461,2595,3447	GG,GA,AA		22.2907,36.3141,27.0414		104/578	110777962	3517,9489	2203	4300	6503	SO:0001819	synonymous_variant	85413	exon2			CCTCTTATTCCTG		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.312T>C	6.37:g.110777962A>G		Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	317	144	0.454259	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	CCDS5084.1																																																																																			A|0.716;G|0.284	0.284	strong		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110777962	A	G	110777962	2	3	22	1	0	0	0	0	0	0	0	1	14447	446	16	2		2	SLC22A16	6	110777962	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	713034	110777962	60337105	3887	8995										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110778128	110778128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggggcctgcagacatgaTgaggggtgactcccatgaac	15	10	0	5	rs714368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:110778128T>C	ENST00000368919.3	-	2	212	c.146A>G	c.(145-147)cAt>cGt	p.H49R	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.H49R|SLC22A16_ENST00000330550.4_Missense_Mutation_p.H47R|SLC22A16_ENST00000456137.2_Missense_Mutation_p.H49R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	49			H -> R (in dbSNP:rs714368).		acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GCAGACATGATGAGGGGTGAC	0.493													t|||	1572	0.313898	0.3888	0.2406	5008	,	,		17832	0.4097		0.2207	False		,,,				2504	0.2618				p.H49R		Atlas-SNP	.											.	SLC22A16	81	.	0			c.A146G						PASS	.	T	ARG/HIS	1600,2806	496.9+/-363.7	281,1038,884	65	68	67		146	-3.1	0	6	dbSNP_86	67	1917,6683	340.3+/-323.5	180,1557,2563	yes	missense	SLC22A16	NM_033125.2	29	461,2595,3447	CC,CT,TT		22.2907,36.3141,27.0414	benign	49/578	110778128	3517,9489	2203	4300	6503	SO:0001583	missense	85413	exon2			ACATGATGAGGGG		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.146A>G	6.37:g.110778128T>C	ENSP00000357915:p.His49Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	94	38	0.404255	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	667	0.30540293040293043	172	0.34959349593495936	93	0.2569060773480663	245	0.42832167832167833	157	0.20712401055408972	t	8.623	0.891879	0.17613	0.363141	0.222907	ENSG00000004809	ENST00000368919;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	D;T;D;T;D;T	0.82167	-1.58;-0.08;-1.58;-0.08;-1.58;-0.08	4.63	-3.12	0.05282	.	1.299300	0.05397	N	0.540040	T	0.41373	0.1156	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.03453	-1.1035	9	0.27082	T	0.32	.	10.625	0.45502	0.0:0.284:0.0:0.716	rs714368;rs52825948;rs60832844;rs714368	49;47	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	R	49;47;49;6;49;6	ENSP00000357915:H49R;ENSP00000328583:H47R;ENSP00000408799:H49R;ENSP00000416310:H6R;ENSP00000402111:H49R;ENSP00000401007:H6R	ENSP00000328583:H47R	H	-	2	0	SLC22A16	110884821	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.856000	0.27818	-0.837000	0.04223	-1.875000	0.00549	CAT	T|0.701;C|0.299	0.299	strong		0.493	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		C	110778128	T	C	110778128	3	2	22	1	0	0	0	0	1	0	0	0	14447	1464	51	2	1615	2	SLC22A16	6	110778128	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	166	110778128	60336939	3888	8996										
RPF2	84154	hgsc.bcm.edu	37	chr6	111310252	111310252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcactgaaaaaaccatacGgtgtactatataaaaagtaa	6	6	0	1	rs6909298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:111310252G>A	ENST00000441448.2	+	3	270	c.178G>A	c.(178-180)Ggt>Agt	p.G60S		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.		G -> S (in dbSNP:rs6909298).			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAAACCATACGGTGTACTATA	0.254													G|||	113	0.0225639	0.0809	0.0086	5008	,	,		15215	0.0		0.0	False		,,,				2504	0.0				p.G60S		Atlas-SNP	.											.	RPF2	26	.	0			c.G178A						PASS	.	G	SER/GLY	308,4064	152.2+/-185.9	17,274,1895	41	44	43		178	3.1	0.9	6	dbSNP_116	43	0,8588		0,0,4294	yes	missense	RPF2	NM_032194.1	56	17,274,6189	AA,AG,GG		0.0,7.0448,2.3765	benign	60/307	111310252	308,12652	2186	4294	6480	SO:0001583	missense	84154	exon3			CCATACGGTGTAC	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.178G>A	6.37:g.111310252G>A	ENSP00000402338:p.Gly60Ser	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	133	66	0.496241	NM_032194	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	41	0.018772893772893772	41	0.08333333333333333	0	0.0	0	0.0	0	0.0	g	6.952	0.545509	0.13312	0.070448	0.0	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.18960	2.18;2.18;2.18	4.92	3.11	0.35812	Brix domain (3);	0.105052	0.64402	D	0.000005	T	0.02380	0.0073	N	0.00765	-1.205	0.36277	D	0.855568	B	0.06786	0.001	B	0.10450	0.005	T	0.27297	-1.0078	10	0.33940	T	0.23	-35.436	11.9222	0.52797	0.1536:0.0:0.8463:0.0	rs6909298;rs52791590;rs6909298	60	Q9H7B2	RPF2_HUMAN	S	60;21;27	ENSP00000402338:G60S;ENSP00000357857:G21S;ENSP00000414026:G27S	ENSP00000357857:G21S	G	+	1	0	RPF2	111416945	1.000000	0.71417	0.914000	0.36105	0.019000	0.09904	4.189000	0.58358	1.209000	0.43321	-0.448000	0.05591	GGT	G|0.977;A|0.023	0.023	strong		0.254	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		A	111310252	G	A	111310252	3	1	22	1	0	0	0	0	1	0	0	0	13547	1116	39	1	188	1	RPF2	6	111310252	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	532124	111310252	59804815	3889	8997										
REV3L	5980	hgsc.bcm.edu	37	chr6	111695304	111695304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtctttgcaatgcaaaaaAttaggggtatatgcttggtc	10	6	1	0	rs3218589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:111695304A>G	ENST00000358835.3	-	14	4708	c.4254T>C	c.(4252-4254)aaT>aaC	p.N1418N	REV3L_ENST00000368802.3_Silent_p.N1418N|REV3L_ENST00000435970.1_Silent_p.N1340N|REV3L_ENST00000368805.1_Silent_p.N1418N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1418					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)		AATGCAAAAAATTAGGGGTAT	0.388								DNA polymerases (catalytic subunits)					A|||	6	0.00119808	0.0045	0.0	5008	,	,		19794	0.0		0.0	False		,,,				2504	0.0				p.N1418N		Atlas-SNP	.											.	REV3L	386	.	0			c.T4254C						PASS	.	A		18,4388	25.3+/-52.1	0,18,2185	149	133	138		4254	3.7	1	6	dbSNP_106	138	0,8600		0,0,4300	no	coding-synonymous	REV3L	NM_002912.3		0,18,6485	GG,GA,AA		0.0,0.4085,0.1384		1418/3131	111695304	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	5980	exon13			CAAAAAATTAGGG	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.4254T>C	6.37:g.111695304A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	147	76	0.517007	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																			A|0.999;G|0.001	0.001	strong		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		G	111695304	A	G	111695304	2	3	22	1	0	0	0	0	0	0	0	1	13240	98	4	2		2	REV3L	6	111695304	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	385052	111695304	59419763	3890	8998										
LAMA4	3910	hgsc.bcm.edu	37	chr6	112512905	112512905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacgttcacacttgaatccGgtggtgttgcgtaagcaatt	10	9	1	1	rs2072021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:112512905G>A	ENST00000230538.7	-	6	1048	c.651C>T	c.(649-651)acC>acT	p.T217T	LAMA4_ENST00000389463.4_Silent_p.T217T|LAMA4_ENST00000424408.2_Silent_p.T217T|LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000522006.1_Silent_p.T217T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	217	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTTGAATCCGGTGGTGTTGC	0.483													G|||	1587	0.316893	0.6067	0.1816	5008	,	,		18568	0.2619		0.1352	False		,,,				2504	0.2648				p.T217T		Atlas-SNP	.											.	LAMA4	227	.	0			c.C651T						PASS	.	G	,,	2301,2105	602.8+/-390.0	627,1047,529	99	84	89		651,651,651	-11.4	0	6	dbSNP_96	89	1048,7552	222.7+/-259.7	55,938,3307	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	682,1985,3836	AA,AG,GG		12.186,47.7758,25.7497	,,	217/1824,217/1817,217/1817	112512905	3349,9657	2203	4300	6503	SO:0001819	synonymous_variant	3910	exon6			GAATCCGGTGGTG		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.651C>T	6.37:g.112512905G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1	601|601	0.2751831501831502|0.2751831501831502	271|271	0.5508130081300813|0.5508130081300813	67|67	0.1850828729281768|0.1850828729281768	164|164	0.2867132867132867|0.2867132867132867	99|99	0.13060686015831136|0.13060686015831136	G|G	6.451|6.451	0.451378|0.451378	0.12223|0.12223	0.522242|0.522242	0.12186|0.12186	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000521732	.|.	.|.	.|.	5.7|5.7	-11.4|-11.4	0.00090|0.00090	.|.	.|.	.|.	.|.	.|.	T|T	0.02494|0.02494	0.0076|0.0076	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999999993|0.9999999999999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.09465|0.09465	-1.0673|-1.0673	3|3	.|.	.|.	.|.	.|.	1.8339|1.8339	0.03135|0.03135	0.468:0.1904:0.075:0.2666|0.468:0.1904:0.075:0.2666	rs2072021;rs59269192;rs2072021|rs2072021;rs59269192;rs2072021	.|.	.|.	.|.	L|W	21|37	.|.	.|.	P|R	-|-	2|1	0|2	LAMA4|LAMA4	112619598|112619598	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.811000|0.811000	0.45836|0.45836	-4.439000|-4.439000	0.00234|0.00234	-4.513000|-4.513000	0.00045|0.00045	-0.982000|-0.982000	0.02568|0.02568	CCG|CGG	G|0.735;A|0.265	0.265	strong		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112512905	G	A	112512905	2	1	22	1	0	0	0	0	0	0	0	1	8608	1103	39	1		1	LAMA4	6	112512905	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	817601	112512905	58602162	3891	8999										
LAMA4	3910	hgsc.bcm.edu	37	chr6	112513025	112513025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgcttccaatgagtaaGgggtttccatagtaaccggg	13	8	0	1	rs61742228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:112513025G>A	ENST00000230538.7	-	6	928	c.531C>T	c.(529-531)ccC>ccT	p.P177P	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Silent_p.P177P|LAMA4_ENST00000424408.2_Silent_p.P177P|LAMA4_ENST00000522006.1_Silent_p.P177P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	177	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAATGAGTAAGGGGTTTCCAT	0.393													G|||	60	0.0119808	0.0446	0.0014	5008	,	,		21553	0.0		0.0	False		,,,				2504	0.0				p.P177P		Atlas-SNP	.											.	LAMA4	227	.	0			c.C531T						PASS	.	G	,,	188,4218	109.5+/-147.8	8,172,2023	68	63	64		531,531,531	4	1	6	dbSNP_129	64	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	8,174,6321	AA,AG,GG		0.0233,4.2669,1.4609	,,	177/1824,177/1817,177/1817	112513025	190,12816	2203	4300	6503	SO:0001819	synonymous_variant	3910	exon6			GAGTAAGGGGTTT		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.531C>T	6.37:g.112513025G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	51	0.51	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																			G|0.985;A|0.015	0.015	strong		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112513025	G	A	112513025	2	1	22	1	0	0	0	0	0	0	0	1	8608	987	35	2		2	LAMA4	6	112513025	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120	112513025	58602042	3892	9000										
COL10A1	1300	hgsc.bcm.edu	37	chr6	116441646	116441646	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaggcattcctgttacccCctggttggcactaacaagag	9	13	0	1	rs2228547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:116441646C>G	ENST00000327673.4	-	2	2040	c.1633G>C	c.(1633-1635)Ggg>Cgg	p.G545R	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_5'Flank|COL10A1_ENST00000243222.4_Missense_Mutation_p.G545R			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	545	Nonhelical region (NC1).		G -> R (in dbSNP:rs2228547). {ECO:0000269|PubMed:15880705, ECO:0000269|PubMed:7607655}.		cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTGTTACCCCCTGGTTGGCA	0.483													C|||	1070	0.213658	0.2806	0.1138	5008	,	,		19584	0.249		0.1243	False		,,,				2504	0.2495				p.G545R		Atlas-SNP	.											.	COL10A1	51	.	0			c.G1633C						PASS	.	C	ARG/GLY,	1113,3293	382.3+/-324.4	153,807,1243	59	66	64		1633,	4.8	1	6	dbSNP_98	64	980,7620	209.6+/-250.7	53,874,3373	yes	missense,intron	COL10A1,NT5DC1	NM_000493.3,NM_152729.2	125,	206,1681,4616	GG,GC,CC		11.3953,25.261,16.0926	probably-damaging,	545/681,	116441646	2093,10913	2203	4300	6503	SO:0001583	missense	1300	exon3			TTACCCCCTGGTT		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.1633G>C	6.37:g.116441646C>G	ENSP00000327368:p.Gly545Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_000493	A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	CCDS5105.1	398	0.18223443223443223	128	0.2601626016260163	37	0.10220994475138122	137	0.2395104895104895	96	0.1266490765171504	C	12.35	1.911885	0.33721	0.25261	0.113953	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.90197	-2.63;-2.63	4.8	4.8	0.61643	Complement C1q protein (1);	0.345327	0.30365	N	0.009787	D	0.90765	0.7101	M	0.73962	2.25	0.30961	P	0.7236929999999999	D	0.54397	0.966	P	0.49665	0.618	D	0.91736	0.5400	9	0.54805	T	0.06	.	16.4072	0.83684	0.0:1.0:0.0:0.0	rs2228547;rs52792905;rs57710620;rs2228547	545	Q03692	COAA1_HUMAN	R	545	ENSP00000243222:G545R;ENSP00000327368:G545R	ENSP00000243222:G545R	G	-	1	0	COL10A1	116548339	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	4.152000	0.58111	2.362000	0.80069	0.561000	0.74099	GGG	C|0.838;G|0.162	0.162	strong		0.483	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			G	116441646	C	G	116441646	3	3	22	1	0	0	0	0	1	0	0	0	3666	623	22	4	413	4	COL10A1	6	116441646	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3928621	116441646	54673421	3893	9001										
TSPYL1	7259	hgsc.bcm.edu	37	chr6	116600774	116600774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaccgccacggcccgcggCatcctggggtacgcccccct	12	19	0	0	rs3749895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:116600774C>G	ENST00000368608.3	-	1	292	c.220G>C	c.(220-222)Gcc>Ccc	p.A74P	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	74			A -> P (in dbSNP:rs3749895). {ECO:0000269|PubMed:11230166}.		nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCCCGCGGCATCCTGGGGT	0.711													G|||	2325	0.464257	0.348	0.3847	5008	,	,		14160	0.6448		0.3082	False		,,,				2504	0.6524				p.A74P		Atlas-SNP	.											TSPYL1,NS,carcinoma,0,1	TSPYL1	28	1	0			c.G220C						PASS	.	G	PRO/ALA	1399,2907		244,911,998	25	29	27		220	1.4	0	6	dbSNP_107	27	2333,6069		345,1643,2213	no	missense	TSPYL1	NM_003309.3	27	589,2554,3211	GG,GC,CC		27.7672,32.4895,29.3673	benign	74/438	116600774	3732,8976	2153	4201	6354	SO:0001583	missense	7259	exon1			CCGCGGCATCCTG	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.220G>C	6.37:g.116600774C>G	ENSP00000357597:p.Ala74Pro	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	22	12	0.545455	NM_003309	O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	887	0.40613553113553114	157	0.31910569105691056	131	0.36187845303867405	370	0.6468531468531469	229	0.3021108179419525	G	2.250	-0.371714	0.05034	0.324895	0.277672	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.20738	2.05	4.22	1.42	0.22433	.	.	.	.	.	T	0.00998	0.0033	N	0.00554	-1.385	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	8	0.02654	T	1	-0.2268	4.9149	0.13840	0.1909:0.3357:0.4734:0.0	rs3749895;rs56769178;rs3749895	74	Q9H0U9	TSYL1_HUMAN	P	74	ENSP00000357597:A74P	ENSP00000357597:A74P	A	-	1	0	TSPYL1	116707467	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.050000	0.15949	-0.120000	0.15030	GCC	C|0.657;G|0.343	0.343	strong		0.711	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			G	116600774	C	G	116600774	3	3	22	1	0	0	0	0	1	0	0	0	16656	710	25	4	1097	4	TSPYL1	6	116600774	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159128	116600774	54514293	3894	9002										
DSE	29940	hgsc.bcm.edu	37	chr6	116720466	116720466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttttcatatatttgctttGctttgtgtcagcctacatca	6	8	3	0	rs76186865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:116720466G>T	ENST00000331677.3	+	3	497	c.53G>T	c.(52-54)tGc>tTc	p.C18F	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.C37F|DSE_ENST00000359564.2_Missense_Mutation_p.C18F|DSE_ENST00000452085.3_Missense_Mutation_p.C18F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	18					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATTTGCTTTGCTTTGTGTCA	0.498													G|||	175	0.0349441	0.1263	0.0058	5008	,	,		17864	0.0		0.004	False		,,,				2504	0.0				p.C18F		Atlas-SNP	.											.	DSE	98	.	0			c.G53T						PASS	.	G	PHE/CYS,PHE/CYS	409,3997	201.1+/-224.2	28,353,1822	78	72	74		53,53	4.8	0.1	6	dbSNP_131	74	23,8577	16.0+/-53.3	1,21,4278	yes	missense,missense	DSE	NM_001080976.1,NM_013352.2	205,205	29,374,6100	TT,TG,GG		0.2674,9.2828,3.3215	benign,benign	18/959,18/959	116720466	432,12574	2203	4300	6503	SO:0001583	missense	29940	exon2			TGCTTTGCTTTGT	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.53G>T	6.37:g.116720466G>T	ENSP00000332151:p.Cys18Phe	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_001080976	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	70	0.03205128205128205	67	0.13617886178861788	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	7.264	0.605736	0.14002	0.092828	0.002674	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.65	4.76	0.60689	.	0.151973	0.64402	D	0.000006	T	0.10766	0.0263	L	0.36672	1.1	0.44373	D	0.997279	B;B	0.18968	0.032;0.013	B;B	0.18561	0.022;0.009	T	0.02424	-1.1161	10	0.62326	D	0.03	-6.9295	15.1889	0.73028	0.0684:0.0:0.9316:0.0	.	37;18	B7Z765;Q9UL01	.;DSE_HUMAN	F	18;18;37;18;18	ENSP00000397597:C18F;ENSP00000404049:C18F;ENSP00000441152:C37F;ENSP00000332151:C18F;ENSP00000352567:C18F	ENSP00000332151:C18F	C	+	2	0	DSE	116827159	1.000000	0.71417	0.104000	0.21259	0.051000	0.14879	5.884000	0.69729	2.941000	0.99782	0.655000	0.94253	TGC	G|0.970;T|0.030	0.030	strong		0.498	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		T	116720466	G	T	116720466	3	4	22	1	0	0	0	0	1	0	0	0	4774	1319	46	4	55	4	DSE	6	116720466	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	119692	116720466	54394601	3895	9003										
DSE	29940	hgsc.bcm.edu	37	chr6	116758004	116758004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagactgaggaggccattgaCaggatttttgccatatcaca	10	9	1	3	rs367781233		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:116758004C>T	ENST00000331677.3	+	7	2817	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	DSE_ENST00000452085.3_Silent_p.D791D|DSE_ENST00000537543.1_Silent_p.D810D|DSE_ENST00000359564.2_Silent_p.D791D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	791					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGCCATTGACAGGATTTTTG	0.473																																					p.D791D		Atlas-SNP	.											.	DSE	98	.	0			c.C2373T						PASS	.	C	,	1,4405	2.1+/-5.4	0,1,2202	68	72	70		2373,2373	1.9	1	6		70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSE	NM_001080976.1,NM_013352.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	791/959,791/959	116758004	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29940	exon6			CATTGACAGGATT	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2373C>T	6.37:g.116758004C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	142	64	0.450704	NM_001080976	Q5R3K6	Silent	SNP	ENST00000331677.3	37	CCDS5107.1																																																																																			.	.	weak		0.473	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		T	116758004	C	T	116758004	2	4	22	1	0	0	0	0	0	0	0	1	4774	477	17	2		2	DSE	6	116758004	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37538	116758004	54357063	3896	9004										
FAM26F	441168	hgsc.bcm.edu	37	chr6	116783585	116783585	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaggcgtcggacgtgcagGacctcctgaaggatctgaag	14	11	1	2	rs76716752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:116783585G>C	ENST00000368605.1	+	2	588	c.493G>C	c.(493-495)Gac>Cac	p.D165H	FAM26F_ENST00000368606.3_Intron|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	165					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GGACGTGCAGGACCTCCTGAA	0.716													G|||	243	0.0485224	0.1747	0.0086	5008	,	,		12495	0.0		0.006	False		,,,				2504	0.0				p.S165P		Atlas-SNP	.											.	FAM26F	12	.	0			c.T493C						PASS	.	G	HIS/ASP	207,1869		8,191,839	3	2	2		493	0.7	0	6	dbSNP_131	2	9,2855		0,9,1423	yes	missense	FAM26F	NM_001010919.1	81	8,200,2262	CC,CG,GG		0.3142,9.9711,4.3725	possibly-damaging	165/316	116783585	216,4724	1038	1432	2470	SO:0001583	missense	441168	exon2			GTGCAGGACCTCC	AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.493G>C	6.37:g.116783585G>C	ENSP00000357594:p.Asp165His	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_001010919	B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	91	0.041666666666666664	84	0.17073170731707318	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	22.3	4.278004	0.80692	0.099711	0.003142	ENSG00000188820	ENST00000368605	T	0.17528	2.27	4.82	0.664	0.17890	.	1.210450	0.05680	N	0.590259	T	0.09598	0.0236	L	0.46157	1.445	0.09310	N	1	D	0.57257	0.979	P	0.47915	0.561	T	0.33189	-0.9878	10	0.48119	T	0.1	-3.4085	9.6311	0.39780	0.4247:0.0:0.5753:0.0	.	165	Q5R3K3	FA26F_HUMAN	H	165	ENSP00000357594:D165H	ENSP00000357594:D165H	D	+	1	0	FAM26F	116890278	0.017000	0.18338	0.001000	0.08648	0.784000	0.44337	1.686000	0.37669	-0.058000	0.13177	0.313000	0.20887	GAC	G|0.954;C|0.046	0.046	strong		0.716	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		C	116783585	G	C	116783585	3	2	22	1	0	0	0	0	1	0	0	0	5551	1174	41	4	495	4	FAM26F	6	116783585	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25581	116783585	54331482	3897	9005										
FAM162B	221303	hgsc.bcm.edu	37	chr6	117086378	117086378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaggattttcttgtcgaaCtgcgaaggcctgcgctgcgt	13	10	1	0	rs654128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117086378C>A	ENST00000368557.4	-	2	359	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	71			Q -> H (in dbSNP:rs654128).			integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						TCTTGTCGAACTGCGAAGGCC	0.617													C|||	429	0.0856629	0.0787	0.1182	5008	,	,		15996	0.0655		0.1491	False		,,,				2504	0.0276				p.Q71H		Atlas-SNP	.											.	FAM162B	19	.	0			c.G213T						PASS	.	C	HIS/GLN	407,3927		21,365,1781	54	61	59	http://www.ncbi.nlm.nih.gov/pubmed?term	213	-7.3	0.3	6	dbSNP_83	59	1354,7202		116,1122,3040	yes	missense	FAM162B	NM_001085480.2	24	137,1487,4821	AA,AC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	15.8252,9.3909,13.6618	possibly-damaging	71/163	117086378	1761,11129	2167	4278	6445	SO:0001583	missense	221303	exon2			GTCGAACTGCGAA	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.213G>T	6.37:g.117086378C>A	ENSP00000357545:p.Gln71His	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	21	0.567568	NM_001085480	Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	CCDS43497.1	215	0.09844322344322344	37	0.07520325203252033	46	0.1270718232044199	26	0.045454545454545456	106	0.13984168865435356	C	10.99	1.505972	0.26949	0.093909	0.158252	ENSG00000183807	ENST00000368557	T	0.31769	1.48	3.65	-7.29	0.01451	.	0.412070	0.26397	N	0.024604	T	0.15955	0.0384	L	0.41236	1.265	0.52501	P	4.700000000001925E-5	D	0.55385	0.971	P	0.54372	0.75	T	0.14671	-1.0464	9	0.46703	T	0.11	-4.7106	11.3138	0.49379	0.0:0.6433:0.1333:0.2234	rs654128;rs3737130;rs17264045;rs60583751;rs654128	71	Q5T6X4	F162B_HUMAN	H	71	ENSP00000357545:Q71H	ENSP00000357545:Q71H	Q	-	3	2	FAM162B	117193071	0.004000	0.15560	0.346000	0.25655	0.172000	0.22775	-2.282000	0.01156	-1.544000	0.01721	-1.069000	0.02264	CAG	C|0.895;A|0.105	0.105	strong		0.617	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		A	117086378	C	A	117086378	3	1	22	1	0	0	0	0	1	0	0	0	5475	564	20	4	287	4	FAM162B	6	117086378	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	302793	117086378	54028689	3898	9006										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117113653	117113653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacaataatctccacagcTggtacatatttgccaaatgt	6	9	1	1	rs615199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117113653T>C	ENST00000310357.3	-	6	2454	c.2433A>G	c.(2431-2433)ccA>ccG	p.P811P	GPRC6A_ENST00000368549.3_Silent_p.P740P|GPRC6A_ENST00000530250.1_Silent_p.P636P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	811					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P811P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTCCACAGCTGGTACATATT	0.343													T|||	1534	0.30631	0.1452	0.3674	5008	,	,		24347	0.5228		0.3082	False		,,,				2504	0.2556				p.P811P		Atlas-SNP	.											GPRC6A,NS,carcinoma,0,1	GPRC6A	152	1	1	Substitution - coding silent(1)	stomach(1)	c.A2433G						PASS	.	T		744,3662	304.1+/-288.3	65,614,1524	79	81	81		2433	-5.8	0.3	6	dbSNP_83	81	2838,5762	446.6+/-361.3	459,1920,1921	no	coding-synonymous	GPRC6A	NM_148963.2		524,2534,3445	CC,CT,TT		33.0,16.8861,27.5411		811/927	117113653	3582,9424	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			CACAGCTGGTACA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2433A>G	6.37:g.117113653T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	141	66	0.468085	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			C|0.301;N|0.000	0.301	strong		0.343	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			C	117113653	T	C	117113653	2	2	22	1	0	0	0	0	0	0	0	1	6728	1567	55	3		3	GPRC6A	6	117113653	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27275	117113653	54001414	3899	9007										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117114025	117114025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttgggatcaaagctgaaGgctagcaaaattttcagaga	10	5	2	2	rs6901250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117114025G>A	ENST00000310357.3	-	6	2082	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	GPRC6A_ENST00000368549.3_Silent_p.A616A|GPRC6A_ENST00000530250.1_Silent_p.A512A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	687					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A687A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAAGCTGAAGGCTAGCAAAA	0.418													G|||	1607	0.320887	0.1989	0.3703	5008	,	,		21337	0.5228		0.3082	False		,,,				2504	0.2556				p.A687A		Atlas-SNP	.											GPRC6A,NS,carcinoma,0,2	GPRC6A	152	2	1	Substitution - coding silent(1)	stomach(1)	c.C2061T						scavenged	.	G		917,3489	351.8+/-311.4	94,729,1380	78	75	76	http://www.ncbi.nlm.nih.gov/pubmed?term	2061	0.6	1	6	dbSNP_116	76	2836,5764	446.8+/-361.4	457,1922,1921	yes	coding-synonymous	GPRC6A	NM_148963.2		551,2651,3301	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	32.9767,20.8125,28.8559		687/927	117114025	3753,9253	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			GCTGAAGGCTAGC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2061C>T	6.37:g.117114025G>A		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	120	53	0.441667	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			G|0.686;A|0.314	0.314	strong		0.418	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117114025	G	A	117114025	2	1	22	1	0	0	0	0	0	0	0	1	6728	987	35	2		2	GPRC6A	6	117114025	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	372	117114025	54001042	3900	9008										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117114223	117114223	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggatgatttcacaacaggTgtgttcaggtttcttgtaaa	10	7	3	1	rs6924002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117114223T>A	ENST00000310357.3	-	6	1884	c.1863A>T	c.(1861-1863)acA>acT	p.T621T	GPRC6A_ENST00000368549.3_Silent_p.T550T|GPRC6A_ENST00000530250.1_Silent_p.T446T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	621					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCACAACAGGTGTGTTCAGGT	0.433													T|||	1607	0.320887	0.1989	0.3703	5008	,	,		19816	0.5228		0.3082	False		,,,				2504	0.2556				p.T621T		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A1863T						PASS	.	T		917,3489	352.1+/-311.5	94,729,1380	100	97	98		1863	-2.1	1	6	dbSNP_116	98	2837,5763	447.3+/-361.5	458,1921,1921	no	coding-synonymous	GPRC6A	NM_148963.2		552,2650,3301	AA,AT,TT		32.9884,20.8125,28.8636		621/927	117114223	3754,9252	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			AACAGGTGTGTTC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1863A>T	6.37:g.117114223T>A		Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	188	88	0.468085	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			T|0.683;A|0.317	0.317	strong		0.433	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117114223	T	A	117114223	2	1	22	1	0	0	0	0	0	0	0	1	6728	1683	59	5		5	GPRC6A	6	117114223	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	198	117114223	54000844	3901	9009										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117127551	117127551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcccatggttgaaaggcGttggggttctgacagtcacg	13	10	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117127551G>A	ENST00000310357.3	-	3	1338	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPRC6A_ENST00000368549.3_Silent_p.N439N|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	439					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTGAAAGGCGTTGGGGTTCT	0.438																																					p.N439N		Atlas-SNP	.											.	GPRC6A	152	.	0			c.C1317T						PASS	.						96	85	88					6																	117127551		2203	4299	6502	SO:0001819	synonymous_variant	222545	exon3			AAAGGCGTTGGGG	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1317C>T	6.37:g.117127551G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			.	.	none		0.438	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117127551	G	A	117127551	2	1	22	1	0	0	0	0	0	0	0	1	6728	1136	40	1		1	GPRC6A	6	117127551	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13328	117127551	53987516	3902	9010										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117130561	117130561	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatgacagccttaactctTggcatgtagctggaatagtc	9	10	1	1	rs76688215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117130561T>G	ENST00000310357.3	-	2	435	c.414A>C	c.(412-414)ccA>ccC	p.P138P	GPRC6A_ENST00000368549.3_Silent_p.P138P|GPRC6A_ENST00000530250.1_Silent_p.P138P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	138					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCTTAACTCTTGGCATGTAGC	0.443													T|||	76	0.0151757	0.0545	0.0029	5008	,	,		19458	0.0		0.002	False		,,,				2504	0.0				p.P138P		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A414C						PASS	.	T		161,4245	109.9+/-148.2	3,155,2045	96	91	93		414	0.9	1	6	dbSNP_132	93	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	GPRC6A	NM_148963.2		3,159,6341	GG,GT,TT		0.0465,3.6541,1.2686		138/927	117130561	165,12841	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon2			AACTCTTGGCATG	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.414A>C	6.37:g.117130561T>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	135	63	0.466667	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			T|0.984;G|0.016	0.016	strong		0.443	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			G	117130561	T	G	117130561	2	3	22	1	0	0	0	0	0	0	0	1	6728	1799	63	5		5	GPRC6A	6	117130561	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3010	117130561	53984506	3903	9011										
RFX6	222546	hgsc.bcm.edu	37	chr6	117243260	117243260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccttaagaagaatgccacTgtggaggcttttattgaatg	10	7	0	3	rs7764347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117243260T>C	ENST00000332958.2	+	13	1399	c.1383T>C	c.(1381-1383)acT>acC	p.T461T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	461					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGAATGCCACTGTGGAGGCTT	0.338													C|||	1699	0.339257	0.2935	0.2939	5008	,	,		16993	0.4226		0.2217	False		,,,				2504	0.4683				p.T461T		Atlas-SNP	.											.	RFX6	141	.	0			c.T1383C						PASS	.	C		1237,3169	705.8+/-407.3	187,863,1153	102	106	105		1383	-6.9	0.9	6	dbSNP_116	105	1530,7070	746.7+/-407.3	144,1242,2914	no	coding-synonymous	RFX6	NM_173560.3		331,2105,4067	CC,CT,TT		17.7907,28.0754,21.2748		461/929	117243260	2767,10239	2203	4300	6503	SO:0001819	synonymous_variant	222546	exon13			TGCCACTGTGGAG	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1383T>C	6.37:g.117243260T>C		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	35	17	0.485714	NM_173560	Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																			T|0.750;C|0.250	0.250	strong		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117243260	T	C	117243260	2	2	22	1	0	0	0	0	0	0	0	1	13267	1567	55	3		3	RFX6	6	117243260	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112699	117243260	53871807	3904	9012										
RFX6	222546	hgsc.bcm.edu	37	chr6	117244374	117244374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cataatctcaccttgaacaaTgcatccagttttggtaacat	5	10	1	1	rs7770158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117244374T>C	ENST00000332958.2	+	14	1558	c.1542T>C	c.(1540-1542)aaT>aaC	p.N514N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	514					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCTTGAACAATGCATCCAGTT	0.338													T|||	1702	0.339856	0.2927	0.2896	5008	,	,		20919	0.4236		0.2286	False		,,,				2504	0.4673				p.N514N		Atlas-SNP	.											.	RFX6	141	.	0			c.T1542C						PASS	.	T		1232,3174	424.2+/-340.4	180,872,1151	148	136	140		1542	0.7	1	6	dbSNP_116	140	1528,7072	288.1+/-298.6	143,1242,2915	no	coding-synonymous	RFX6	NM_173560.3		323,2114,4066	CC,CT,TT		17.7674,27.9619,21.221		514/929	117244374	2760,10246	2203	4300	6503	SO:0001819	synonymous_variant	222546	exon14			GAACAATGCATCC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1542T>C	6.37:g.117244374T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	154	82	0.532468	NM_173560	Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																			T|0.747;C|0.253	0.253	strong		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117244374	T	C	117244374	2	2	22	1	0	0	0	0	0	0	0	1	13267	1461	51	2		2	RFX6	6	117244374	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1114	117244374	53870693	3905	9013										
RFX6	222546	hgsc.bcm.edu	37	chr6	117248218	117248218	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctttcacagattgctggTcatctgatgacaccacccat	8	12	3	3	rs611349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117248218T>C	ENST00000332958.2	+	17	1930	c.1914T>C	c.(1912-1914)ggT>ggC	p.G638G		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	638					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGATTGCTGGTCATCTGATGA	0.453													T|||	1705	0.340455	0.2958	0.2911	5008	,	,		17880	0.4226		0.2286	False		,,,				2504	0.4663				p.G638G		Atlas-SNP	.											.	RFX6	141	.	0			c.T1914C						PASS	.	T		1251,3155	428.5+/-341.9	187,877,1139	101	100	101		1914	-4.1	0.9	6	dbSNP_83	101	1530,7070	288.9+/-299.0	143,1244,2913	no	coding-synonymous	RFX6	NM_173560.3		330,2121,4052	CC,CT,TT		17.7907,28.3931,21.3824		638/929	117248218	2781,10225	2203	4300	6503	SO:0001819	synonymous_variant	222546	exon17			TGCTGGTCATCTG	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1914T>C	6.37:g.117248218T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_173560	Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																			T|0.757;C|0.243	0.243	strong		0.453	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117248218	T	C	117248218	2	2	22	1	0	0	0	0	0	0	0	1	13267	1654	58	2		2	RFX6	6	117248218	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3844	117248218	53866849	3906	9014										
VGLL2	245806	hgsc.bcm.edu	37	chr6	117591755	117591755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccccgcctccttctggaaTagcgcgtaccaggcgccagt	10	16	1	0	rs13194610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117591755T>C	ENST00000326274.5	+	3	631	c.441T>C	c.(439-441)aaT>aaC	p.N147N	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	147					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CCTTCTGGAATAGCGCGTACC	0.711													C|||	893	0.178315	0.3752	0.0951	5008	,	,		7610	0.1319		0.1054	False		,,,				2504	0.0941				p.N147N		Atlas-SNP	.											.	VGLL2	18	.	0			c.T441C						PASS	.	C	,	1283,3091		171,941,1075	10	12	11		,441	4.1	1	6	dbSNP_121	11	904,7648		52,800,3424	yes	intron,coding-synonymous	VGLL2	NM_153453.1,NM_182645.2	,	223,1741,4499	CC,CT,TT		10.5706,29.3324,16.9194	,	,147/318	117591755	2187,10739	2187	4276	6463	SO:0001819	synonymous_variant	245806	exon3			CTGGAATAGCGCG	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.441T>C	6.37:g.117591755T>C		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	33	7	0.212121	NM_182645	Q8WWX1	Silent	SNP	ENST00000326274.5	37	CCDS5115.1																																																																																			T|0.831;C|0.169	0.169	strong		0.711	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		C	117591755	T	C	117591755	2	2	22	1	0	0	0	0	0	0	0	1	17156	1403	49	2		2	VGLL2	6	117591755	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	343537	117591755	53523312	3907	9015										
ROS1	6098	hgsc.bcm.edu	37	chr6	117681560	117681560	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggccccttagatgtaaaGgccctaacctaaagaaaagg	9	11	0	2	rs140639104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117681560G>T	ENST00000368508.3	-	22	3588	c.3390C>A	c.(3388-3390)gcC>gcA	p.A1130A	ROS1_ENST00000368507.3_Silent_p.A1125A|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1130	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAGATGTAAAGGCCCTAACCT	0.368			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								G|||	12	0.00239617	0.0083	0.0014	5008	,	,		17507	0.0		0.0	False		,,,				2504	0.0				p.A1130A		Atlas-SNP	.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1	728	.	0			c.C3390A						PASS	.	G		37,4369	41.6+/-74.8	0,37,2166	81	76	78		3390	1.1	1	6	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	ROS1	NM_002944.2		0,37,6466	TT,TG,GG		0.0,0.8398,0.2845		1130/2348	117681560	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	6098	exon22			TGTAAAGGCCCTA	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3390C>A	6.37:g.117681560G>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	73	24	0.328767	NM_002944	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																			G|0.998;T|0.002	0.002	strong		0.368	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117681560	G	T	117681560	2	4	22	1	0	0	0	0	0	0	0	1	13531	987	35	4		4	ROS1	6	117681560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89805	117681560	53433507	3908	9016										
ROS1	6098	hgsc.bcm.edu	37	chr6	117725578	117725578	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcaaagggagcagttggTaggtctgcattttctgggga	16	5	2	0	rs2243378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117725578T>A	ENST00000368508.3	-	5	501	c.303A>T	c.(301-303)ctA>ctT	p.L101L	ROS1_ENST00000368507.3_Silent_p.L110L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	101	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCAGTTGGTAGGTCTGCAT	0.453			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A|||	3381	0.67512	0.9244	0.5231	5008	,	,		17193	0.5675		0.502	False		,,,				2504	0.7352				p.L101L		Atlas-SNP	.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1	728	.	0			c.A303T						PASS	.	A		3785,621	267.7+/-268.0	1638,509,56	89	88	88		303	-3.9	0	6	dbSNP_98	88	4008,4592	599.6+/-394.1	942,2124,1234	no	coding-synonymous	ROS1	NM_002944.2		2580,2633,1290	AA,AT,TT		46.6047,14.0944,40.0815		101/2348	117725578	7793,5213	2203	4300	6503	SO:0001819	synonymous_variant	6098	exon5			AGTTGGTAGGTCT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.303A>T	6.37:g.117725578T>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_002944	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																			T|0.406;A|0.594	0.594	strong		0.453	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117725578	T	A	117725578	2	1	22	1	0	0	0	0	0	0	0	1	13531	1625	57	5		5	ROS1	6	117725578	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44018	117725578	53389489	3909	9017										
GOPC	57120	hgsc.bcm.edu	37	chr6	117896421	117896421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaacagctatatgtctaCgaagggcttcattctctttt	9	8	3	1	rs374207248		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:117896421C>T	ENST00000368498.2	-	4	644	c.569G>A	c.(568-570)cGt>cAt	p.R190H	GOPC_ENST00000535237.1_Missense_Mutation_p.R190H|GOPC_ENST00000052569.6_Missense_Mutation_p.R182H|GOPC_ENST00000467125.1_5'Flank	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	190					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TATATGTCTACGAAGGGCTTC	0.408			O	ROS1	glioblastoma																																p.R190H		Atlas-SNP	.		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	GOPC,rectum,carcinoma,-1,1	GOPC	29	1	0			c.G569A						scavenged	.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	142	124	130		545,569	5.7	1	6		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GOPC	NM_001017408.2,NM_020399.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	182/455,190/463	117896421	1,13005	2203	4300	6503	SO:0001583	missense	57120	exon4			TGTCTACGAAGGG	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.569G>A	6.37:g.117896421C>T	ENSP00000357484:p.Arg190His	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	241	3	0.0124481	NM_020399	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062458	0.93898	0.0	1.16E-4	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;T;T	0.84442	-1.85;2.08;0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	L	0.60455	1.87	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.52672	0.706;0.512	D	0.85784	0.1363	10	0.48119	T	0.1	-20.0627	19.7117	0.96099	0.0:1.0:0.0:0.0	.	182;190	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	H	182;190;190	ENSP00000052569:R182H;ENSP00000357484:R190H;ENSP00000445690:R190H	ENSP00000052569:R182H	R	-	2	0	GOPC	118003114	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	7.818000	0.86416	2.660000	0.90430	0.591000	0.81541	CGT	.	.	weak		0.408	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		T	117896421	C	T	117896421	3	4	22	1	0	0	0	0	1	0	0	0	6573	536	19	1	843	1	GOPC	6	117896421	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	170843	117896421	53218646	3910	9018										
C6orf204	387119	hgsc.bcm.edu	37	chr6	118791804	118791804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttagaaagctttccttgcaTagactagaatttttaaaaaa	5	5	0	3	rs7743702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:118791804T>C	ENST00000368491.3	-	11	2539	c.1918A>G	c.(1918-1920)Atg>Gtg	p.M640V	CEP85L_ENST00000368488.5_Missense_Mutation_p.M643V	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	640			M -> V (in dbSNP:rs7743702).			centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTTCCTTGCATAGACTAGAAT	0.318													T|||	166	0.033147	0.059	0.0173	5008	,	,		15160	0.0		0.0189	False		,,,				2504	0.0583				p.M643V		Atlas-SNP	.											.	CEP85L	26	.	0			c.A1927G						PASS	.	T	VAL/MET,VAL/MET	199,3401		4,191,1605	74	70	72		1918,1927	1.6	1	6	dbSNP_116	72	166,7950		2,162,3894	yes	missense,missense	C6orf204	NM_001042475.2,NM_001178035.1	21,21	6,353,5499	CC,CT,TT		2.0453,5.5278,3.1154	benign,benign	640/806,643/809	118791804	365,11351	1800	4058	5858	SO:0001583	missense	387119	exon12			CTTGCATAGACTA	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1918A>G	6.37:g.118791804T>C	ENSP00000357477:p.Met640Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	131	69	0.526718	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	46	0.021062271062271064	26	0.052845528455284556	6	0.016574585635359115	0	0.0	14	0.018469656992084433	T	12.46	1.943229	0.34283	0.055278	0.020453	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.10960	2.82;2.82	5.69	1.6	0.23607	.	0.484848	0.22127	N	0.064253	T	0.02304	0.0071	L	0.36672	1.1	0.29229	N	0.873412	B	0.21225	0.053	B	0.18561	0.022	T	0.36601	-0.9741	10	0.49607	T	0.09	-6.4463	2.3369	0.04250	0.257:0.0736:0.133:0.5364	rs7743702;rs52838185;rs7743702	640	Q5SZL2	CF204_HUMAN	V	640;643	ENSP00000357477:M640V;ENSP00000357474:M643V	ENSP00000357474:M643V	M	-	1	0	C6orf204	118898497	0.926000	0.31397	1.000000	0.80357	0.939000	0.58152	0.058000	0.14301	0.932000	0.37266	0.533000	0.62120	ATG	T|0.975;C|0.025	0.025	strong		0.318	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		C	118791804	T	C	118791804	3	2	22	1	0	0	0	0	1	0	0	0	2353	1406	49	2	511	2	C6orf204	6	118791804	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	895383	118791804	52323263	3911	9019										
C6orf204	387119	hgsc.bcm.edu	37	chr6	118803091	118803091	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatttttttcttccagaatCtgcagctaaggagaaatgtt	7	6	2	2	rs9489410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:118803091C>G	ENST00000368491.3	-	8	2217	c.1596G>C	c.(1594-1596)caG>caC	p.Q532H	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q535H	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	532			Q -> H (in dbSNP:rs9489410).			centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTTCCAGAATCTGCAGCTAAG	0.318													C|||	166	0.033147	0.059	0.0173	5008	,	,		11959	0.0		0.0189	False		,,,				2504	0.0583				p.Q535H		Atlas-SNP	.											.	CEP85L	26	.	0			c.G1605C						PASS	.	C	HIS/GLN,HIS/GLN	194,3380		4,186,1597	67	57	60		1596,1605	2.3	1	6	dbSNP_119	60	164,7956		1,162,3897	yes	missense,missense	C6orf204	NM_001042475.2,NM_001178035.1	24,24	5,348,5494	GG,GC,CC		2.0197,5.4281,3.0614	probably-damaging,probably-damaging	532/806,535/809	118803091	358,11336	1787	4060	5847	SO:0001583	missense	387119	exon9			CAGAATCTGCAGC	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1596G>C	6.37:g.118803091C>G	ENSP00000357477:p.Gln532His	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	46	0.021062271062271064	26	0.052845528455284556	6	0.016574585635359115	0	0.0	14	0.018469656992084433	C	16.03	3.005806	0.54254	0.054281	0.020197	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.11821	2.74;2.74;2.74	5.24	2.29	0.28610	.	0.061562	0.64402	D	0.000004	T	0.16642	0.0400	L	0.56769	1.78	0.34826	D	0.73918	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.02588	-1.1137	10	0.72032	D	0.01	-5.1646	9.1618	0.37028	0.0:0.6637:0.0:0.3363	rs9489410;rs52802289;rs9489410	535;532	F8W6J2;Q5SZL2	.;CF204_HUMAN	H	532;535;535	ENSP00000357477:Q532H;ENSP00000357474:Q535H;ENSP00000392131:Q535H	ENSP00000357474:Q535H	Q	-	3	2	C6orf204	118909784	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	0.983000	0.29552	0.219000	0.20840	0.561000	0.74099	CAG	C|0.982;G|0.018	0.018	strong		0.318	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		G	118803091	C	G	118803091	3	3	22	1	0	0	0	0	1	0	0	0	2353	912	32	4	845	4	C6orf204	6	118803091	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11287	118803091	52311976	3912	9020										
C6orf204	387119	hgsc.bcm.edu	37	chr6	118812811	118812813	+	Intron	DEL	TGT	TGT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataattatatgctgaggaaaTgttgttgacctaattcaact					rs71866282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:118812811_118812813delTGT	ENST00000368491.3	-	6	2059				CEP85L_ENST00000360290.3_In_Frame_Del_p.Q389del|CEP85L_ENST00000392500.3_In_Frame_Del_p.Q494del|CEP85L_ENST00000419517.2_In_Frame_Del_p.Q491del|CEP85L_ENST00000368488.5_Intron	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)											GCTGAGGAAATGTTGTTGACCTA	0.32														166	0.033147	0.059	0.0173	5008	,	,		18299	0.0		0.0189	False		,,,				2504	0.0583				p.492_492del		Pindel,Atlas-Indel	.											.	CEP85L	26	.	0			c.1474_1476del						PASS	.		,,	241,4015		6,229,1893					,,	3.5	0		dbSNP_130	43	164,8084		2,160,3962	no	coding,intron,intron	C6orf204	NM_206921.2,NM_001178035.1,NM_001042475.2	,,	8,389,5855	A1A1,A1R,RR		1.9884,5.6626,3.239	,,	,,		405,12099				SO:0001627	intron_variant	387119	exon6			.	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1437+35ACA>-	6.37:g.118812814_118812816delTGT		Somatic	77	.	.		WXS	Illumina HiSeq	Phase_I	70	30	0.429	NM_206921	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	In_Frame_Del	DEL	ENST00000368491.3	37	CCDS43498.1																																																																																			TGT|0.979;-|0.021	0.021	strong		0.32	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		-	118812813	TGT	-	118812811	6	5	22	0	1	1	0	1	0	0	0	0	2353	1464	51	0		0	C6orf204	6	118812811	Intron	DEL	TGT	TCGA-G8-6324-01A-11D-2210-10	9720	118812811	52302256	3913	9021										
C6orf204	387119	hgsc.bcm.edu	37	chr6	118887215	118887215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaccctggccacagttaTccggggcagtgagtttggat	13	11	0	1	rs9489444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:118887215T>A	ENST00000368491.3	-	3	1118	c.497A>T	c.(496-498)gAt>gTt	p.D166V	CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.D169V|CEP85L_ENST00000360290.3_Missense_Mutation_p.D64V|CEP85L_ENST00000392500.3_Missense_Mutation_p.D169V|CEP85L_ENST00000419517.2_Missense_Mutation_p.D166V	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	166			D -> V (in dbSNP:rs9489444).			centrosome (GO:0005813)|cytoplasm (GO:0005737)											GCCACAGTTATCCGGGGCAGT	0.498													T|||	191	0.038139	0.121	0.0144	5008	,	,		20125	0.0099		0.004	False		,,,				2504	0.0072				p.D169V		Atlas-SNP	.											.	CEP85L	26	.	0			c.A506T						PASS	.	T	VAL/ASP,VAL/ASP,VAL/ASP	363,4043	186.0+/-213.0	18,327,1858	134	122	126		497,506,497	2.1	0	6	dbSNP_119	126	36,8564	24.6+/-71.5	0,36,4264	yes	missense,missense,missense	C6orf204	NM_001042475.2,NM_001178035.1,NM_206921.2	152,152,152	18,363,6122	AA,AT,TT		0.4186,8.2388,3.0678	benign,benign,benign	166/806,169/809,166/497	118887215	399,12607	2203	4300	6503	SO:0001583	missense	387119	exon4			CAGTTATCCGGGG	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.497A>T	6.37:g.118887215T>A	ENSP00000357477:p.Asp166Val	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	202	114	0.564356	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	72	0.03296703296703297	60	0.12195121951219512	6	0.016574585635359115	3	0.005244755244755245	3	0.00395778364116095	T	4.848	0.157562	0.09236	0.082388	0.004186	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.25912	2.94;2.93;2.35;2.11;1.77;2.12	5.86	2.12	0.27331	.	0.629920	0.16930	N	0.193714	T	0.04998	0.0134	N	0.24115	0.695	0.47308	P	6.110000000000282E-4	B;B;B;B;B	0.18610	0.029;0.023;0.013;0.005;0.005	B;B;B;B;B	0.15052	0.011;0.012;0.012;0.007;0.004	T	0.32322	-0.9911	9	0.38643	T	0.18	-0.0495	4.4874	0.11797	0.1127:0.0771:0.117:0.6932	rs9489444;rs52812528;rs9489444	64;169;166;169;166	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	V	166;169;169;169;64;166	ENSP00000357477:D166V;ENSP00000357474:D169V;ENSP00000392131:D169V;ENSP00000376288:D169V;ENSP00000353434:D64V;ENSP00000393317:D166V	ENSP00000353434:D64V	D	-	2	0	C6orf204	118993908	0.760000	0.28428	0.001000	0.08648	0.018000	0.09664	1.002000	0.29796	0.130000	0.18549	0.533000	0.62120	GAT	T|0.964;A|0.036	0.036	strong		0.498	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		A	118887215	T	A	118887215	3	1	22	1	0	0	0	0	1	0	0	0	2353	1435	50	5	2018	5	C6orf204	6	118887215	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74404	118887215	52227852	3914	9022										
C6orf204	387119	hgsc.bcm.edu	37	chr6	118953755	118953755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcattagcaggtagccaTgctgatgaataatctgggcc	11	8	2	2	rs9320659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:118953755T>C	ENST00000368491.3	-	2	714	c.93A>G	c.(91-93)gcA>gcG	p.A31A	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000392500.3_Silent_p.A34A|CEP85L_ENST00000419517.2_Silent_p.A31A|CEP85L_ENST00000368488.5_Silent_p.A34A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	31						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAGGTAGCCATGCTGATGAAT	0.388													T|||	163	0.0325479	0.0582	0.0159	5008	,	,		17382	0.0		0.0179	False		,,,				2504	0.0583				p.A34A		Atlas-SNP	.											.	CEP85L	26	.	0			c.A102G						PASS	.	T	,,	199,3547		4,191,1678	79	74	76		93,102,93	1.9	1	6	dbSNP_119	76	163,8055		2,159,3948	no	coding-synonymous,coding-synonymous,coding-synonymous	C6orf204	NM_001042475.2,NM_001178035.1,NM_206921.2	,,	6,350,5626	CC,CT,TT		1.9835,5.3123,3.0257	,,	31/806,34/809,31/497	118953755	362,11602	1873	4109	5982	SO:0001819	synonymous_variant	387119	exon3			TAGCCATGCTGAT	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.93A>G	6.37:g.118953755T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	57	31	0.54386	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	CCDS43498.1																																																																																			T|0.980;C|0.020	0.020	strong		0.388	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		C	118953755	T	C	118953755	2	2	22	1	0	0	0	0	0	0	0	1	2353	1451	51	2		2	C6orf204	6	118953755	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66540	118953755	52161312	3915	9023										
MCM9	254394	hgsc.bcm.edu	37	chr6	119245024	119245024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctacacctggttggagaCgaagacaagcctgagaggca	12	10	1	3	rs12197931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:119245024C>T	ENST00000316316.6	-	3	859	c.573G>A	c.(571-573)tcG>tcA	p.S191S	MCM9_ENST00000316068.3_Silent_p.S191S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	191					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TGGTTGGAGACGAAGACAAGC	0.418													C|||	491	0.0980431	0.0968	0.049	5008	,	,		20322	0.2014		0.0378	False		,,,				2504	0.09				p.S191S		Atlas-SNP	.											MCM9_ENST00000316316,rectum,carcinoma,-1,2	MCM9	73	2	0			c.G573A						PASS	.	C	,	350,4056	181.2+/-209.3	15,320,1868	84	81	82		573,573	-1.9	1	6	dbSNP_120	82	376,8224	122.9+/-181.8	6,364,3930	no	coding-synonymous,coding-synonymous	MCM9	NM_017696.2,NM_153255.4	,	21,684,5798	TT,TC,CC		4.3721,7.9437,5.582	,	191/1144,191/392	119245024	726,12280	2203	4300	6503	SO:0001819	synonymous_variant	254394	exon2			TGGAGACGAAGAC	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.573G>A	6.37:g.119245024C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	143	72	0.503497	NM_017696	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	ENST00000316316.6	37	CCDS56447.1																																																																																			C|0.923;T|0.077	0.077	strong		0.418	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		T	119245024	C	T	119245024	2	4	22	1	0	0	0	0	0	0	0	1	9394	523	19	1		1	MCM9	6	119245024	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	291269	119245024	51870043	3916	9024										
C6orf170	221322	hgsc.bcm.edu	37	chr6	121576518	121576518	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaacagaatcagaaccCtctactggagtaggaattct	9	8	3	3	rs201833154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:121576518C>G	ENST00000398212.2	-	17	2023	c.1974G>C	c.(1972-1974)gaG>gaC	p.E658D	TBC1D32_ENST00000275159.6_Missense_Mutation_p.E658D	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	658					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATCAGAACCCTCTACTGGAG	0.289													C|||	7	0.00139776	0.0053	0.0	5008	,	,		8412	0.0		0.0	False		,,,				2504	0.0				p.E658D		Atlas-SNP	.											C6orf170,colon,carcinoma,-2,1	C6orf170	146	1	0			c.G1974C						PASS	.	C	ASP/GLU	21,3563		0,21,1771	55	55	55		1974	-6.1	0	6		55	0,8094		0,0,4047	yes	missense	C6orf170	NM_152730.4	45	0,21,5818	GG,GC,CC		0.0,0.5859,0.1798	benign	658/1258	121576518	21,11657	1792	4047	5839	SO:0001583	missense	221322	exon17			AGAACCCTCTACT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1974G>C	6.37:g.121576518C>G	ENSP00000381270:p.Glu658Asp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	141	73	0.51773	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389161	0.11581	0.005859	0.0	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.17370	2.28;2.28	5.81	-6.14	0.02111	.	0.553654	0.18121	N	0.151042	T	0.02571	0.0078	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.40701	-0.9549	10	0.22109	T	0.4	.	6.2469	0.20823	0.1049:0.2255:0.0805:0.5892	.	658;658	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	D	658	ENSP00000275159:E658D;ENSP00000381270:E658D	ENSP00000275159:E658D	E	-	3	2	C6orf170	121618217	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-1.136000	0.03222	-1.369000	0.02147	-0.150000	0.13652	GAG	.	.	weak		0.289	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		G	121576518	C	G	121576518	3	3	22	1	0	0	0	0	1	0	0	0	2344	680	24	4	1863	4	C6orf170	6	121576518	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2331494	121576518	49538549	3917	9025										
TRDN	10345	hgsc.bcm.edu	37	chr6	123759243	123759243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatggcagtttccttctcaCttttctttttgatatcttct	4	10	4	1	rs35766971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:123759243C>T	ENST00000398178.3	-	12	1037	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N	TRDN_ENST00000334268.4_Missense_Mutation_p.S339N|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	339			S -> N (in dbSNP:rs35766971).		cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCCTTCTCACTTTTCTTTTT	0.353													C|||	66	0.0131789	0.0477	0.0043	5008	,	,		19093	0.0		0.0	False		,,,				2504	0.0				p.S340N		Atlas-SNP	.											TRDN,posterior_fossa,glioma,0,1	TRDN	88	1	0			c.G1019A						PASS	.	C	ASN/SER	123,3559		1,121,1719	124	119	121		1016	3.7	0.6	6	dbSNP_126	121	1,8137		0,1,4068	yes	missense	TRDN	NM_006073.2	46	1,122,5787	TT,TC,CC		0.0123,3.3406,1.0491	benign	339/730	123759243	124,11696	1841	4069	5910	SO:0001583	missense	10345	exon12			TTCTCACTTTTCT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1016G>A	6.37:g.123759243C>T	ENSP00000381240:p.Ser339Asn	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_001251987	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	12.94	2.089922	0.36855	0.033406	1.23E-4	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.62788	-0.0;-0.0	5.49	3.72	0.42706	.	0.724189	0.13174	N	0.408030	T	0.25457	0.0619	L	0.27053	0.805	0.43499	D	0.995746	B;B;B	0.23650	0.089;0.089;0.089	B;B;B	0.22152	0.025;0.025;0.038	T	0.09122	-1.0689	10	0.19590	T	0.45	6.1703	6.726	0.23357	0.125:0.3677:0.5073:0.0	rs35766971	339;340;339	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	N	339	ENSP00000381240:S339N;ENSP00000333984:S339N	ENSP00000333984:S339N	S	-	2	0	TRDN	123800942	0.970000	0.33590	0.602000	0.28890	0.991000	0.79684	1.640000	0.37186	0.812000	0.34326	0.650000	0.86243	AGT	C|0.991;T|0.009	0.009	strong		0.353	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	123759243	C	T	123759243	3	4	22	1	0	0	0	0	1	0	0	0	16465	565	20	2	1293	2	TRDN	6	123759243	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2182725	123759243	47355824	3918	9026										
NCOA7	135112	hgsc.bcm.edu	37	chr6	126249914	126249914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggtgtgggcatttgaTtgaaattcagactgccttaa	12	6	1	3	rs1567|rs386705611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:126249914T>G	ENST00000368357.3	+	17	3178	c.2826T>G	c.(2824-2826)gaT>gaG	p.D942E	NCOA7_ENST00000229634.9_Missense_Mutation_p.D827E|NCOA7_ENST00000392477.2_Missense_Mutation_p.D942E	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	942	TLD.		D -> E (in dbSNP:rs1567).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GGGCATTTGATTGAAATTCAG	0.433													G|||	827	0.165136	0.2617	0.0764	5008	,	,		16628	0.2401		0.1153	False		,,,				2504	0.0716				p.D942E		Atlas-SNP	.											.	NCOA7	92	.	0			c.T2826G						PASS	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	1109,3297	715.1+/-408.4	152,805,1246	76	78	77		2793,2826,2826,2481,657,2826	4.1	1	6	dbSNP_36	77	1106,7494	768.0+/-407.6	64,978,3258	yes	missense,missense,missense,missense,missense,missense	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_001199622.1,NM_181782.4	45,45,45,45,45,45	216,1783,4504	GG,GT,TT		12.8605,25.1702,17.0306	benign,benign,benign,benign,benign,benign	931/932,942/943,942/943,827/828,219/220,942/943	126249914	2215,10791	2203	4300	6503	SO:0001583	missense	135112	exon17			ATTTGATTGAAAT	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2826T>G	6.37:g.126249914T>G	ENSP00000357341:p.Asp942Glu	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_001199619	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	343|343	0.15705128205128205|0.15705128205128205	116|116	0.23577235772357724|0.23577235772357724	24|24	0.06629834254143646|0.06629834254143646	115|115	0.20104895104895104|0.20104895104895104	88|88	0.11609498680738786|0.11609498680738786	G|G	1.772|1.772	-0.484123|-0.484123	0.04383|0.04383	0.251702|0.251702	0.128605|0.128605	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634|ENST00000438495	T;T;T|.	0.06933|.	3.26;3.26;3.24|.	6.17|6.17	4.1|4.1	0.47936|0.47936	TLDc (1);|.	0.000000|.	0.85682|.	N|.	0.000000|.	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.01202|0.01202	-0.96|-0.96	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.001;0.0;0.0|.	T|T	0.38265|0.38265	-0.9669|-0.9669	9|4	0.02654|.	T|.	1|.	.|.	6.2777|6.2777	0.20989|0.20989	0.2432:0.0:0.6121:0.1447|0.2432:0.0:0.6121:0.1447	rs1567;rs52814580;rs59469171;rs1567|rs1567;rs52814580;rs59469171;rs1567	931;236;931;942|.	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08|.	.;.;.;NCOA7_HUMAN|.	E|V	942;942;827|237	ENSP00000357341:D942E;ENSP00000376269:D942E;ENSP00000229634:D827E|.	ENSP00000229634:D827E|.	D|L	+|+	3|1	2|2	NCOA7|NCOA7	126291607|126291607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.734000|0.734000	0.41952|0.41952	1.200000|1.200000	0.32247|0.32247	0.952000|0.952000	0.37798|0.37798	-0.121000|-0.121000	0.15023|0.15023	GAT|TTG	T|0.829;G|0.171	0.171	strong		0.433	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		G	126249914	T	G	126249914	3	3	22	1	0	0	0	0	1	0	0	0	10234	1490	52	5	2884	5	NCOA7	6	126249914	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2490671	126249914	44865153	3919	9027										
TRMT11	60487	hgsc.bcm.edu	37	chr6	126319453	126319453	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaagaagagaaaatcaagCgaatagatgtaagtaaattt	8	4	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:126319453C>T	ENST00000334379.5	+	5	500	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TRMT11_ENST00000450358.1_Nonsense_Mutation_p.R127*|TRMT11_ENST00000368332.3_Nonsense_Mutation_p.R127*	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	127					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GAAAATCAAGCGAATAGATGT	0.303																																					p.R127X		Atlas-SNP	.											TRMT11,NS,carcinoma,-1,2	TRMT11	43	2	0			c.C379T						PASS	.						38	37	37					6																	126319453		2166	4290	6456	SO:0001587	stop_gained	60487	exon5			ATCAAGCGAATAG	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.379C>T	6.37:g.126319453C>T	ENSP00000333934:p.Arg127*	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	48	12	0.25	NM_001031712	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Nonsense_Mutation	SNP	ENST00000334379.5	37	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666307	0.96745	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	.	.	.	5.95	4.04	0.47022	.	0.174050	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-10.3198	12.802	0.57591	0.508:0.492:0.0:0.0	.	.	.	.	X	127;127;127;64;64	.	ENSP00000333934:R127X	R	+	1	2	TRMT11	126361146	1.000000	0.71417	0.963000	0.40424	0.939000	0.58152	5.384000	0.66225	1.483000	0.48342	0.655000	0.94253	CGA	.	.	none		0.303	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		T	126319453	C	T	126319453	4	4	22	1	0	0	0	0	0	1	0	0	16559	760	27	1	397	1	TRMT11	6	126319453	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69539	126319453	44795614	3920	9028										
C6orf174	387104	hgsc.bcm.edu	37	chr6	127797389	127797389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgttggcttcttcctcCaccagccttagccgtagctt	9	13	1	0	rs61741826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:127797389C>T	ENST00000525778.1	-	6	2527	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	SOGA3_ENST00000465909.2_Silent_p.V594V|SOGA3_ENST00000368268.2_Silent_p.V594V|SOGA3_ENST00000556132.1_Silent_p.V594V|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.V594V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	594					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTTCTTCCTCCACCAGCCTTA	0.577													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18875	0.0		0.0	False		,,,				2504	0.0				p.V594V		Atlas-SNP	.											.	.	.	.	0			c.G1782A						PASS	.	C		14,4244		0,14,2115	120	129	126		1782	4.7	1	6	dbSNP_129	126	0,8480		0,0,4240	no	coding-synonymous	C6orf174	NM_001012279.2		0,14,6355	TT,TC,CC		0.0,0.3288,0.1099		594/948	127797389	14,12724	2129	4240	6369	SO:0001819	synonymous_variant	387104	exon6			TTCCTCCACCAGC	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1782G>A	6.37:g.127797389C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_001012279		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																			C|0.999;T|0.001	0.001	strong		0.577	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		T	127797389	C	T	127797389	2	4	22	1	0	0	0	0	0	0	0	1	2345	581	21	2		2	C6orf174	6	127797389	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1477936	127797389	43317678	3921	9029										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129691132	129691132	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgaacgagctgctgacCagggtaaggtggcaaaatta	13	6	0	2	rs17057184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:129691132C>G	ENST00000421865.2	+	34	5005	c.4956C>G	c.(4954-4956)acC>acG	p.T1652T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1652	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTGCTGACCAGGGTAAGGT	0.448													C|||	484	0.0966454	0.1104	0.1484	5008	,	,		18463	0.0466		0.0706	False		,,,				2504	0.1196				p.T1652T		Atlas-SNP	.											.	LAMA2	481	.	0			c.C4956G						PASS	.	C	,	498,3908	231.4+/-245.2	31,436,1736	65	66	65		4956,4956	2.1	1	6	dbSNP_123	65	529,8071	148.3+/-203.6	19,491,3790	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	50,927,5526	GG,GC,CC		6.1512,11.3028,7.8964	,	1652/3123,1652/3119	129691132	1027,11979	2203	4300	6503	SO:0001819	synonymous_variant	3908	exon34			GCTGACCAGGGTA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4956C>G	6.37:g.129691132C>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	84	35	0.416667	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			C|0.919;G|0.081	0.081	strong		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			G	129691132	C	G	129691132	2	3	22	1	0	0	0	0	0	0	0	1	8606	581	21	4		4	LAMA2	6	129691132	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1893743	129691132	41423935	3922	9030										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129762112	129762112	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacagcgtcgccaaaacGaatgctgtggttaaagatcc	11	10	0	2	rs2297738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:129762112G>A	ENST00000421865.2	+	43	6286	c.6237G>A	c.(6235-6237)acG>acA	p.T2079T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2079	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGCCAAAACGAATGCTGTGG	0.418													G|||	914	0.182508	0.1536	0.2334	5008	,	,		21579	0.2202		0.1551	False		,,,				2504	0.1748				p.T2079T		Atlas-SNP	.											.	LAMA2	481	.	0			c.G6237A						PASS	.	G	,	555,3851	250.0+/-257.2	29,497,1677	94	83	87		6237,6237	3.4	1	6	dbSNP_100	87	1253,7347	249.9+/-277.0	95,1063,3142	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	124,1560,4819	AA,AG,GG		14.5698,12.5965,13.9013	,	2079/3123,2079/3119	129762112	1808,11198	2203	4300	6503	SO:0001819	synonymous_variant	3908	exon43			CAAAACGAATGCT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6237G>A	6.37:g.129762112G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	134	71	0.529851	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			G|0.845;A|0.155	0.155	strong		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129762112	G	A	129762112	2	1	22	1	0	0	0	0	0	0	0	1	8606	1045	37	1		1	LAMA2	6	129762112	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70980	129762112	41352955	3923	9031										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129824406	129824406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatccccaccaaaatcaAtgatggccagtggcacaagg	9	12	1	2	rs73599293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:129824406A>G	ENST00000421865.2	+	60	8577	c.8528A>G	c.(8527-8529)aAt>aGt	p.N2843S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2843	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCAAAATCAATGATGGCCAG	0.493													A|||	96	0.0191693	0.0673	0.0086	5008	,	,		20534	0.0		0.001	False		,,,				2504	0.0				p.N2843S		Atlas-SNP	.											.	LAMA2	481	.	0			c.A8528G						PASS	.	A	SER/ASN,SER/ASN	305,4101	166.2+/-197.5	11,283,1909	81	76	78		8528,8516	5.9	1	6	dbSNP_130	78	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	46,46	11,287,6205	GG,GA,AA		0.0465,6.9224,2.3758	probably-damaging,probably-damaging	2843/3123,2839/3119	129824406	309,12697	2203	4300	6503	SO:0001583	missense	3908	exon60			AAATCAATGATGG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8528A>G	6.37:g.129824406A>G	ENSP00000400365:p.Asn2843Ser	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	46	26	0.565217	NM_000426	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	23	0.010531135531135532	19	0.03861788617886179	4	0.011049723756906077	0	0.0	0	0.0	A	14.58	2.577584	0.45902	0.069224	4.65E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.71222	-0.55	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	L	0.54863	1.705	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76329	-0.2999	9	.	.	.	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	2844;2843	A6NF00;P24043	.;LAMA2_HUMAN	S	2843;2842;2843;861	ENSP00000400365:N2843S	.	N	+	2	0	LAMA2	129866099	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.796000	0.85898	2.241000	0.73720	0.533000	0.62120	AAT	A|0.980;G|0.020	0.020	strong		0.493	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			G	129824406	A	G	129824406	3	3	22	1	0	0	0	0	1	0	0	0	8606	101	4	2	8766	2	LAMA2	6	129824406	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	62294	129824406	41290661	3924	9032										
TMEM200A	114801	hgsc.bcm.edu	37	chr6	130761804	130761804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attataggaattgctatggcCgttcttggatattggcccca	10	8	1	0	rs12200105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:130761804C>T	ENST00000296978.3	+	3	1108	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TMEM200A_ENST00000545622.1_Silent_p.A79A|TMEM200A_ENST00000392429.1_Silent_p.A79A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	79						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTGCTATGGCCGTTCTTGGAT	0.418													C|||	1312	0.261981	0.5408	0.2248	5008	,	,		19198	0.1339		0.172	False		,,,				2504	0.136				p.A79A		Atlas-SNP	.											.	TMEM200A	108	.	0			c.C237T						PASS	.	C		2008,2398	562.1+/-380.9	465,1078,660	99	100	100		237	-9.9	0.9	6	dbSNP_120	100	1382,7218	268.3+/-287.8	119,1144,3037	no	coding-synonymous	TMEM200A	NM_052913.2		584,2222,3697	TT,TC,CC		16.0698,45.5742,26.0649		79/492	130761804	3390,9616	2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			TATGGCCGTTCTT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.237C>T	6.37:g.130761804C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	118	118	1	NM_001258277	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																			C|0.743;T|0.257	0.257	strong		0.418	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		T	130761804	C	T	130761804	2	4	22	1	0	0	0	0	0	0	0	1	16120	639	23	1		1	TMEM200A	6	130761804	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	937398	130761804	40353263	3925	9033										
TMEM200A	114801	hgsc.bcm.edu	37	chr6	130761957	130761957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgaaaatgcttggcccAttcaccatggggattggcat	11	8	1	2	rs3813359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:130761957A>G	ENST00000296978.3	+	3	1261	c.390A>G	c.(388-390)ccA>ccG	p.P130P	TMEM200A_ENST00000545622.1_Silent_p.P130P|TMEM200A_ENST00000392429.1_Silent_p.P130P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	130						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGCTTGGCCCATTCACCATGG	0.413													A|||	1396	0.278754	0.3699	0.2017	5008	,	,		20896	0.3413		0.1412	False		,,,				2504	0.2873				p.P130P		Atlas-SNP	.											.	TMEM200A	108	.	0			c.A390G						PASS	.	A		1590,2816	495.0+/-363.1	300,990,913	91	79	83		390	-5.3	0.9	6	dbSNP_107	83	1179,7421	240.4+/-271.1	74,1031,3195	no	coding-synonymous	TMEM200A	NM_052913.2		374,2021,4108	GG,GA,AA		13.7093,36.0872,21.2902		130/492	130761957	2769,10237	2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			TGGCCCATTCACC	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.390A>G	6.37:g.130761957A>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_001258277	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																			A|0.770;G|0.230	0.230	strong		0.413	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		G	130761957	A	G	130761957	2	3	22	1	0	0	0	0	0	0	0	1	16120	204	8	2		2	TMEM200A	6	130761957	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	153	130761957	40353110	3926	9034										
AKAP7	9465	hgsc.bcm.edu	37	chr6	131490324	131490324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaaaacatttgactttgcCctttcaagggattggtactt	10	7	1	1	rs115301121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:131490324C>T	ENST00000431975.2	+	5	598	c.500C>T	c.(499-501)cCc>cTc	p.P167L	AKAP7_ENST00000541650.1_Missense_Mutation_p.P166L|AKAP7_ENST00000368123.4_Missense_Mutation_p.P145L|AKAP7_ENST00000366358.2_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	167						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTGACTTTGCCCTTTCAAGGG	0.373													C|||	26	0.00519169	0.0197	0.0	5008	,	,		17471	0.0		0.0	False		,,,				2504	0.0				p.P167L		Atlas-SNP	.											.	AKAP7	61	.	0			c.C500T						PASS	.	C	LEU/PRO	80,4326	68.7+/-106.4	3,74,2126	130	133	132		500	5.9	1	6	dbSNP_132	132	2,8598	1.2+/-3.3	0,2,4298	yes	missense	AKAP7	NM_016377.3	98	3,76,6424	TT,TC,CC		0.0233,1.8157,0.6305	benign	167/349	131490324	82,12924	2203	4300	6503	SO:0001583	missense	9465	exon5			CTTTGCCCTTTCA	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.500C>T	6.37:g.131490324C>T	ENSP00000405252:p.Pro167Leu	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	210	104	0.495238	NM_016377	B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	25.2	4.613160	0.87359	0.018157	2.33E-4	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.62941	-0.01;-0.01;-0.01	5.9	5.9	0.94986	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.159801	0.56097	D	0.000021	T	0.63022	0.2476	M	0.73598	2.24	0.58432	D	0.999999	D;P	0.53312	0.959;0.945	P;P	0.50440	0.62;0.641	T	0.62077	-0.6930	10	0.33141	T	0.24	-11.449	15.779	0.78246	0.0:1.0:0.0:0.0	.	166;167	F5GXD1;Q9P0M2	.;AKA7G_HUMAN	L	167;166;145	ENSP00000405252:P167L;ENSP00000441048:P166L;ENSP00000357105:P145L	ENSP00000357105:P145L	P	+	2	0	AKAP7	131532017	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	4.775000	0.62346	2.788000	0.95919	0.650000	0.86243	CCC	C|0.993;T|0.007	0.007	strong		0.373	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		T	131490324	C	T	131490324	3	4	22	1	0	0	0	0	1	0	0	0	456	623	22	2	448	2	AKAP7	6	131490324	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	728367	131490324	39624743	3927	9035										
OR2A4	79541	hgsc.bcm.edu	37	chr6	132021722	132021722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagaggctgtgaaacagcaGgagatatttcttctgctcct	10	8	2	3	rs145289654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:132021722G>A	ENST00000315453.2	-	1	913	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	274					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGAAACAGCAGGAGATATTTC	0.453													g|||	76	0.0151757	0.0545	0.0058	5008	,	,		22576	0.0		0.0	False		,,,				2504	0.0				p.L274L		Atlas-SNP	.											.	OR2A4	17	.	0			c.C820T						PASS	.	G	,	198,3340		56,86,1627	20	30	27		,820	0.7	0.9	6	dbSNP_134	27	0,8486		0,0,4243	no	intron,coding-synonymous	ENPP3,OR2A4	NM_005021.3,NM_030908.1	,	56,86,5870	AA,AG,GG		0.0,5.5964,1.6467	,	,274/311	132021722	198,11826	1769	4243	6012	SO:0001819	synonymous_variant	79541	exon1			ACAGCAGGAGATA	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.820C>T	6.37:g.132021722G>A		Somatic	770	2	0.0025974		WXS	Illumina HiSeq	Phase_I	935	254	0.271658	NM_030908	Q0VAR3|Q6IF18|Q9NQN0	Silent	SNP	ENST00000315453.2	37	CCDS5149.1																																																																																			G|0.995;A|0.005	0.005	strong		0.453	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		A	132021722	G	A	132021722	2	1	22	1	0	0	0	0	0	0	0	1	10979	991	35	2		2	OR2A4	6	132021722	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	531398	132021722	39093345	3928	9036										
ENPP1	5167	hgsc.bcm.edu	37	chr6	132172368	132172368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcagatgactgcaaggacAagggcgactgctgcatcaac	12	10	2	2	rs1044498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:132172368A>C	ENST00000360971.2	+	4	537	c.517A>C	c.(517-519)Aag>Cag	p.K173Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	173	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.		K -> Q (associated with NIDDM; dbSNP:rs1044498). {ECO:0000269|PubMed:10453738, ECO:0000269|PubMed:10480624, ECO:0000269|PubMed:16186408, ECO:0000269|PubMed:20034067}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTGCAAGGACAAGGGCGACTG	0.493													C|||	1714	0.342252	0.8835	0.196	5008	,	,		15825	0.0962		0.1332	False		,,,				2504	0.183				p.K173Q	Colon(104;336 1535 5856 11019 33782)	Atlas-SNP	.											.	ENPP1	108	.	0			c.A517C	GRCh37	CM993455	ENPP1	M	rs1044498	PASS	.	C	GLN/LYS	3310,1096	393.3+/-328.8	1262,786,155	133	127	129	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	517	3.4	0	6	dbSNP_86	129	1245,7355	761.3+/-407.6	92,1061,3147	yes	missense	ENPP1	NM_006208.2	53	1354,1847,3302	CC,CA,AA		14.4767,24.8752,35.0223	benign	173/926	132172368	4555,8451	2203	4300	6503	SO:0001583	missense	5167	exon4			AAGGACAAGGGCG	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.517A>C	6.37:g.132172368A>C	ENSP00000354238:p.Lys173Gln	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	106	50	0.471698	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	640	0.29304029304029305	427	0.8678861788617886	59	0.16298342541436464	62	0.10839160839160839	92	0.12137203166226913	C	11.34	1.610895	0.28712	0.751248	0.144767	ENSG00000197594	ENST00000360971	T	0.43294	0.95	5.55	3.39	0.38822	Somatomedin B domain (4);	0.811774	0.11213	N	0.587550	T	0.21186	0.0510	L	0.46885	1.475	0.80722	P	0.0	B	0.22604	0.072	B	0.26310	0.068	T	0.06607	-1.0817	9	0.27785	T	0.31	-0.3225	14.3354	0.66586	0.8272:0.1728:0.0:0.0	rs1044498;rs1801642;rs3184275;rs17847048;rs52820331;rs1044498	173	P22413	ENPP1_HUMAN	Q	173	ENSP00000354238:K173Q	ENSP00000354238:K173Q	K	+	1	0	ENPP1	132214061	0.097000	0.21791	0.001000	0.08648	0.926000	0.56050	1.966000	0.40481	0.174000	0.19809	-0.187000	0.12897	AAG	A|0.655;C|0.345	0.345	strong		0.493	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			C	132172368	A	C	132172368	3	2	22	1	0	0	0	0	1	0	0	0	5129	131	5	5	531	5	ENPP1	6	132172368	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150646	132172368	38942699	3929	9037										
ENPP1	5167	hgsc.bcm.edu	37	chr6	132211534	132211534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttaatgttacacagagcAcggatcacagatgttgagca	10	7	1	3	rs1804025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:132211534A>G	ENST00000360971.2	+	25	2681	c.2661A>G	c.(2659-2661)gcA>gcG	p.A887A		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	887	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TACACAGAGCACGGATCACAG	0.388													A|||	396	0.0790735	0.2368	0.0331	5008	,	,		20304	0.0		0.0318	False		,,,				2504	0.0286				p.A887A	Colon(104;336 1535 5856 11019 33782)	Atlas-SNP	.											ENPP1,larynx,carcinoma,+2,1	ENPP1	108	1	0			c.A2661G						PASS	.	A		908,3498	351.1+/-311.1	93,722,1388	136	126	130		2661	-2.7	1	6	dbSNP_89	130	162,8438	76.3+/-139.0	0,162,4138	no	coding-synonymous	ENPP1	NM_006208.2		93,884,5526	GG,GA,AA		1.8837,20.6083,8.227		887/926	132211534	1070,11936	2203	4300	6503	SO:0001819	synonymous_variant	5167	exon25			CAGAGCACGGATC	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2661A>G	6.37:g.132211534A>G		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	146	71	0.486301	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																			A|0.915;G|0.085	0.085	strong		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			G	132211534	A	G	132211534	2	3	22	1	0	0	0	0	0	0	0	1	5129	146	6	2		2	ENPP1	6	132211534	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39166	132211534	38903533	3930	9038										
TAAR2	9287	hgsc.bcm.edu	37	chr6	132938817	132938817	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctctgagaagaccaccccGaaggcaaatgctccagggac	11	14	1	2	rs61745666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:132938817G>A	ENST00000367931.1	-	2	527	c.528C>T	c.(526-528)ttC>ttT	p.F176F	TAAR2_ENST00000537809.1_Silent_p.F131F|TAAR2_ENST00000275191.2_Silent_p.F131F			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	176					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGACCACCCCGAAGGCAAATG	0.443													G|||	971	0.19389	0.5287	0.1196	5008	,	,		19402	0.0893		0.0239	False		,,,				2504	0.0767				p.F176F		Atlas-SNP	.											TAAR2,colon,carcinoma,0,1	TAAR2	45	1	0			c.C528T						PASS	.	G	,	2102,2304	575.0+/-383.9	515,1072,616	61	57	59		528,393	-1.5	0.3	6	dbSNP_129	59	166,8434	76.3+/-139.0	2,162,4136	yes	coding-synonymous,coding-synonymous	TAAR2	NM_001033080.1,NM_014626.3	,	517,1234,4752	AA,AG,GG		1.9302,47.7077,17.4381	,	176/352,131/307	132938817	2268,10738	2203	4300	6503	SO:0001819	synonymous_variant	9287	exon2			CACCCCGAAGGCA	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.528C>T	6.37:g.132938817G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	94	48	0.510638	NM_001033080	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	CCDS34541.1																																																																																			A|0.164;G|0.836;T|0.000	0.164	strong		0.443	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		A	132938817	G	A	132938817	2	1	22	1	0	0	0	0	0	0	0	1	15487	1049	37	1		1	TAAR2	6	132938817	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	727283	132938817	38176250	3931	9039										
TAAR1	134864	hgsc.bcm.edu	37	chr6	132967032	132967032	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actatcagattgccaacgagTgtggtcagaattatgagcac	10	8	2	3	rs73775159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:132967032T>G	ENST00000275216.1	-	1	110	c.111A>C	c.(109-111)acA>acC	p.T37T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TGCCAACGAGTGTGGTCAGAA	0.383													T|||	59	0.0117812	0.0431	0.0029	5008	,	,		20615	0.0		0.0	False		,,,				2504	0.0				p.T37T		Atlas-SNP	.											.	TAAR1	41	.	0			c.A111C						PASS	.	T		160,4246	108.2+/-146.6	1,158,2044	168	165	166		111	-3	0	6	dbSNP_130	166	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	TAAR1	NM_138327.1		1,160,6342	GG,GT,TT		0.0233,3.6314,1.2456		37/340	132967032	162,12844	2203	4300	6503	SO:0001819	synonymous_variant	134864	exon1			AACGAGTGTGGTC	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.111A>C	6.37:g.132967032T>G		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	272	144	0.529412	NM_138327	Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	CCDS5158.1																																																																																			T|0.989;G|0.011	0.011	strong		0.383	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		G	132967032	T	G	132967032	2	3	22	1	0	0	0	0	0	0	0	1	15486	1683	59	5		5	TAAR1	6	132967032	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28215	132967032	38148035	3932	9040										
VNN1	8876	hgsc.bcm.edu	37	chr6	133004281	133004281	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaaaagtcaatattctAccaacttaatgagcatacaa	5	7	2	2	rs61729583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:133004281A>G	ENST00000367928.4	-	7	1553	c.1540T>C	c.(1540-1542)Tag>Cag	p.*514Q		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	0					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)		TCAATATTCTACCAACTTAAT	0.333													A|||	148	0.0295527	0.1082	0.0058	5008	,	,		16408	0.0		0.001	False		,,,				2504	0.0				p.X514Q		Atlas-SNP	.											.	VNN1	69	.	0			c.T1540C						PASS	.	A	GLN/stop	395,4011	196.7+/-221.0	18,359,1826	94	89	90		1540	4.7	0.9	6	dbSNP_129	90	4,8596	3.0+/-9.4	0,4,4296	yes	stop-lost	VNN1	NM_004666.2		18,363,6122	GG,GA,AA		0.0465,8.965,3.0678		514/514	133004281	399,12607	2203	4300	6503	SO:0001578	stop_lost	8876	exon7			TATTCTACCAACT	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.1540T>C	6.37:g.133004281A>G	ENSP00000356905:p.*514Gluext*13	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	47	0.02152014652014652	44	0.08943089430894309	3	0.008287292817679558	0	0.0	0	0.0	A	10.88	1.475064	0.26511	0.08965	4.65E-4	ENSG00000112299	ENST00000367928	.	.	.	5.86	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1002	0.36664	0.917:0.0:0.083:0.0	.	.	.	.	Q	514	.	.	X	-	1	0	VNN1	133045974	0.003000	0.15002	0.944000	0.38274	0.058000	0.15608	1.546000	0.36179	2.237000	0.73441	0.528000	0.53228	TAG	A|0.971;G|0.029	0.029	strong		0.333	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			G	133004281	A	G	133004281	4	3	22	1	0	0	0	0	0	0	0	0	17179	404	14	2	5	2	VNN1	6	133004281	Nonstop_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37249	133004281	38110786	3933	9041										
VNN1	8876	hgsc.bcm.edu	37	chr6	133013576	133013576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgtttcctgatgagagcGcttctatactgctggcatag	10	10	1	2	rs34535050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:133013576G>T	ENST00000367928.4	-	5	987	c.974C>A	c.(973-975)gCg>gAg	p.A325E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	325	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		A -> E (in dbSNP:rs34535050). {ECO:0000269|Ref.4}.		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)		TGATGAGAGCGCTTCTATACT	0.448													G|||	124	0.0247604	0.09	0.0058	5008	,	,		18388	0.0		0.001	False		,,,				2504	0.0				p.A325E		Atlas-SNP	.											.	VNN1	69	.	0			c.C974A						PASS	.	G	GLU/ALA	329,4077	173.7+/-203.5	15,299,1889	76	74	75		974	4.1	0	6	dbSNP_126	75	3,8597	2.2+/-6.3	0,3,4297	yes	missense	VNN1	NM_004666.2	107	15,302,6186	TT,TG,GG		0.0349,7.4671,2.5527	benign	325/514	133013576	332,12674	2203	4300	6503	SO:0001583	missense	8876	exon5			GAGAGCGCTTCTA	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.974C>A	6.37:g.133013576G>T	ENSP00000356905:p.Ala325Glu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	67	33	0.492537	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	39	0.017857142857142856	36	0.07317073170731707	3	0.008287292817679558	0	0.0	0	0.0	G	0.747	-0.774241	0.02951	0.074671	3.49E-4	ENSG00000112299	ENST00000367928	D	0.87256	-2.23	5.85	4.05	0.47172	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	1.202920	0.05711	N	0.595981	T	0.67316	0.2880	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.20767	0.031	T	0.55082	-0.8196	10	0.15952	T	0.53	-14.8515	5.0557	0.14531	0.067:0.23:0.4724:0.2306	rs34535050	325	O95497	VNN1_HUMAN	E	325	ENSP00000356905:A325E	ENSP00000356905:A325E	A	-	2	0	VNN1	133055269	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.013000	0.13310	0.796000	0.33947	0.563000	0.77884	GCG	G|0.975;T|0.025	0.025	strong		0.448	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			T	133013576	G	T	133013576	3	4	22	1	0	0	0	0	1	0	0	0	17179	1087	38	4	579	4	VNN1	6	133013576	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9295	133013576	38101491	3934	9042										
VNN1	8876	hgsc.bcm.edu	37	chr6	133015257	133015257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtccccaatatttgccaCaacatagatagagttgttct	6	10	1	2	rs45610032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:133015257C>G	ENST00000367928.4	-	3	419	c.406G>C	c.(406-408)Gtg>Ctg	p.V136L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	136	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		V -> L (in dbSNP:rs45610032). {ECO:0000269|Ref.4}.		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)		ATATTTGCCACAACATAGATA	0.438													C|||	38	0.00758786	0.0265	0.0043	5008	,	,		16984	0.0		0.0	False		,,,				2504	0.0				p.V136L		Atlas-SNP	.											.	VNN1	69	.	0			c.G406C						PASS	.	C	LEU/VAL	119,4287	90.2+/-128.9	3,113,2087	155	139	144		406	6.1	1	6	dbSNP_127	144	5,8595	3.7+/-12.6	0,5,4295	no	missense	VNN1	NM_004666.2	32	3,118,6382	GG,GC,CC		0.0581,2.7009,0.9534	benign	136/514	133015257	124,12882	2203	4300	6503	SO:0001583	missense	8876	exon3			TTGCCACAACATA	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.406G>C	6.37:g.133015257C>G	ENSP00000356905:p.Val136Leu	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	233	115	0.493562	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	25.6	4.658625	0.88154	0.027009	5.81E-4	ENSG00000112299	ENST00000367928	D	0.89485	-2.52	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000004	D	0.90140	0.6919	M	0.76002	2.32	0.58432	D	0.999998	P	0.37141	0.584	B	0.44044	0.439	D	0.89290	0.3618	10	0.52906	T	0.07	-8.8184	20.6439	0.99570	0.0:1.0:0.0:0.0	rs45610032	136	O95497	VNN1_HUMAN	L	136	ENSP00000356905:V136L	ENSP00000356905:V136L	V	-	1	0	VNN1	133056950	1.000000	0.71417	0.969000	0.41365	0.874000	0.50279	6.622000	0.74233	2.890000	0.99128	0.650000	0.86243	GTG	C|0.992;G|0.008	0.008	strong		0.438	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			G	133015257	C	G	133015257	3	3	22	1	0	0	0	0	1	0	0	0	17179	478	17	4	1155	4	VNN1	6	133015257	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1681	133015257	38099810	3935	9043										
VNN1	8876	hgsc.bcm.edu	37	chr6	133035098	133035098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgctcataaacagctgcaGtgaaagtgtcctggcagctg	11	10	1	1	rs2294757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:133035098G>A	ENST00000367928.4	-	1	90	c.77C>T	c.(76-78)aCt>aTt	p.T26I		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	26	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		T -> I (in dbSNP:rs2294757). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9790769, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		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)		AACAGCTGCAGTGAAAGTGTC	0.473													A|||	2873	0.573682	0.8971	0.5735	5008	,	,		20031	0.3819		0.3708	False		,,,				2504	0.5429				p.T26I		Atlas-SNP	.											.	VNN1	69	.	0			c.C77T						PASS	.	A	ILE/THR	3639,767	310.2+/-291.5	1520,599,84	99	86	90		77	-3.6	0	6	dbSNP_100	90	3131,5469	657.0+/-401.4	593,1945,1762	yes	missense	VNN1	NM_004666.2	89	2113,2544,1846	AA,AG,GG		36.407,17.4081,47.9471	benign	26/514	133035098	6770,6236	2203	4300	6503	SO:0001583	missense	8876	exon1			GCTGCAGTGAAAG	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.77C>T	6.37:g.133035098G>A	ENSP00000356905:p.Thr26Ile	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	1146	0.5247252747252747	425	0.8638211382113821	207	0.5718232044198895	229	0.40034965034965037	285	0.3759894459102902	A	0.032	-1.330392	0.01298	0.825919	0.36407	ENSG00000112299	ENST00000367928	D	0.85773	-2.03	5.38	-3.64	0.04515	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.319072	0.30244	N	0.010067	T	0.27663	0.0680	N	0.01405	-0.89	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18967	-1.0320	9	0.02654	T	1	-26.8441	8.625	0.33883	0.5771:0.0:0.3332:0.0897	rs2294757;rs17604841;rs52808755;rs58995129;rs2294757	26	O95497	VNN1_HUMAN	I	26	ENSP00000356905:T26I	ENSP00000356905:T26I	T	-	2	0	VNN1	133076791	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.164000	0.16542	-1.290000	0.02372	-2.692000	0.00139	ACT	G|0.474;A|0.525	0.525	strong		0.473	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			A	133035098	G	A	133035098	3	1	22	1	0	0	0	0	1	0	0	0	17179	1029	36	2	1492	2	VNN1	6	133035098	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19841	133035098	38079969	3936	9044										
C6orf192	116843	hgsc.bcm.edu	37	chr6	133105120	133105120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaccatcagcaaaacgaCgcatcccagaacaataaaag	7	11	1	1	rs6926101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:133105120C>T	ENST00000275227.4	-	6	706	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	SLC18B1_ENST00000538764.1_Missense_Mutation_p.V78I|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	204			V -> I (in dbSNP:rs6926101).		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGCAAAACGACGCATCCCAGA	0.373													T|||	934	0.186502	0.525	0.0576	5008	,	,		13411	0.0268		0.0616	False		,,,				2504	0.1135				p.V204I		Atlas-SNP	.											.	.	.	.	0			c.G610A						PASS	.	T	ILE/VAL	1969,2437	619.6+/-393.4	436,1097,670	117	121	120		610	-9.1	0.6	6	dbSNP_116	120	424,8176	800.6+/-407.4	11,402,3887	yes	missense	C6orf192	NM_052831.2	29	447,1499,4557	TT,TC,CC		4.9302,44.6891,18.3992	benign	204/457	133105120	2393,10613	2203	4300	6503	SO:0001583	missense	116843	exon6			AAACGACGCATCC	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.610G>A	6.37:g.133105120C>T	ENSP00000275227:p.Val204Ile	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	109	43	0.394495	NM_052831	A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	CCDS5163.1	361	0.1652930402930403	274	0.556910569105691	25	0.06906077348066299	10	0.017482517482517484	52	0.06860158311345646	T	1.326	-0.598232	0.03744	0.446891	0.049302	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.58210	0.35;0.35	5.53	-9.11	0.00711	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.676968	0.15904	N	0.238903	T	0.06645	0.0170	N	0.11427	0.14	0.80722	P	0.0	B;B	0.15473	0.013;0.004	B;B	0.09377	0.003;0.004	T	0.18555	-1.0333	9	0.17369	T	0.5	-2.2202	3.6149	0.08074	0.3298:0.3896:0.1701:0.1105	rs6926101;rs52812882;rs60262769;rs6926101	78;204	B7Z1S5;Q6NT16	.;CF192_HUMAN	I	204;78	ENSP00000275227:V204I;ENSP00000444098:V78I	ENSP00000275227:V204I	V	-	1	0	C6orf192	133146813	0.000000	0.05858	0.576000	0.28549	0.240000	0.25518	-3.041000	0.00632	-1.375000	0.02129	-2.402000	0.00224	GTC	C|0.812;T|0.188	0.188	strong		0.373	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		T	133105120	C	T	133105120	3	4	22	1	0	0	0	0	1	0	0	0	2349	536	19	1	796	1	C6orf192	6	133105120	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70022	133105120	38009947	3937	9045										
TCF21	6943	hgsc.bcm.edu	37	chr6	134210600	134210600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatgttggaatgtgacgGgttgaaaatggattcgaaca	15	3	0	3	rs56412384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:134210600G>T	ENST00000367882.4	+	1	325	c.65G>T	c.(64-66)gGg>gTg	p.G22V	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G22V	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	22					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GAATGTGACGGGTTGAAAATG	0.567													G|||	298	0.0595048	0.2057	0.0259	5008	,	,		17673	0.004		0.001	False		,,,				2504	0.0031				p.G22V		Atlas-SNP	.											TCF21,NS,carcinoma,+1,1	TCF21	30	1	0			c.G65T	GRCh37	HM050002	TCF21	M	rs56412384	scavenged	.	G	VAL/GLY,VAL/GLY	766,3640	311.6+/-292.2	84,598,1521	97	102	100		65,65	3.5	1	6	dbSNP_129	100	17,8583	11.9+/-42.8	0,17,4283	yes	missense,missense	TCF21	NM_003206.3,NM_198392.2	109,109	84,615,5804	TT,TG,GG		0.1977,17.3854,6.0203	benign,benign	22/180,22/180	134210600	783,12223	2203	4300	6503	SO:0001583	missense	6943	exon1			GTGACGGGTTGAA	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.65G>T	6.37:g.134210600G>T	ENSP00000356857:p.Gly22Val	Somatic	93	1	0.0107527		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_003206	E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	CCDS5167.1	108	0.04945054945054945	94	0.1910569105691057	10	0.027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	G	10.95	1.496669	0.26861	0.173854	0.001977	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96200	-3.94;-3.94	4.43	3.53	0.40419	.	0.306082	0.28566	N	0.014896	D	0.85660	0.5748	L	0.36672	1.1	0.09310	P	0.99999762263	B	0.13594	0.008	B	0.11329	0.006	T	0.76484	-0.2942	9	0.15952	T	0.53	-15.4673	12.9612	0.58460	0.0:0.1708:0.8291:0.0	rs56412384;rs61729590	22	O43680	TCF21_HUMAN	V	22	ENSP00000356857:G22V;ENSP00000237316:G22V	ENSP00000237316:G22V	G	+	2	0	TCF21	134252293	1.000000	0.71417	0.997000	0.53966	0.798000	0.45092	5.440000	0.66563	0.797000	0.33971	0.313000	0.20887	GGG	G|0.944;T|0.056	0.056	strong		0.567	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		T	134210600	G	T	134210600	3	4	22	1	0	0	0	0	1	0	0	0	15688	1232	43	4	67	4	TCF21	6	134210600	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1105480	134210600	36904467	3938	9046										
ALDH8A1	64577	hgsc.bcm.edu	37	chr6	135254034	135254034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctttttgcagtggggagcGctcagctgggtgatccgctc	15	10	1	1	rs114000920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135254034G>A	ENST00000265605.2	-	5	797	c.729C>T	c.(727-729)agC>agT	p.S243S	ALDH8A1_ENST00000367845.2_Silent_p.S243S|ALDH8A1_ENST00000367847.2_Silent_p.S193S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	243					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGTGGGGAGCGCTCAGCTGGG	0.647													G|||	58	0.0115815	0.0416	0.0043	5008	,	,		17286	0.0		0.0	False		,,,				2504	0.0				p.S243S		Atlas-SNP	.											.	ALDH8A1	68	.	0			c.C729T						PASS	.	G	,,	126,4280	91.6+/-130.3	2,122,2079	68	70	69		579,729,729	-2.7	1	6	dbSNP_132	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	,,	2,124,6377	AA,AG,GG		0.0233,2.8597,0.9842	,,	193/438,243/488,243/434	135254034	128,12878	2203	4300	6503	SO:0001819	synonymous_variant	64577	exon5			GGGAGCGCTCAGC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.729C>T	6.37:g.135254034G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	ENST00000265605.2	37	CCDS5171.1																																																																																			G|0.987;A|0.013	0.013	strong		0.647	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			A	135254034	G	A	135254034	2	1	22	1	0	0	0	0	0	0	0	1	505	1078	38	1		1	ALDH8A1	6	135254034	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1043434	135254034	35861033	3939	9047										
ALDH8A1	64577	hgsc.bcm.edu	37	chr6	135271178	135271178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccagcatcaaaagtgcgTttgttccagccatagcaagg	9	10	1	0	rs56954234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135271178T>C	ENST00000265605.2	-	1	82	c.14A>G	c.(13-15)aAc>aGc	p.N5S	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.N5S|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.N5S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	5					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CAAAAGTGCGTTTGTTCCAGC	0.453													T|||	71	0.0141773	0.0514	0.0043	5008	,	,		19775	0.0		0.0	False		,,,				2504	0.0				p.N5S		Atlas-SNP	.											.	ALDH8A1	68	.	0			c.A14G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN	141,4265	98.9+/-137.6	3,135,2065	102	102	102		14,14,14	-1.8	0	6	dbSNP_129	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	46,46,46	3,138,6362	CC,CT,TT		0.0349,3.2002,1.1072	benign,benign,benign	5/438,5/488,5/434	135271178	144,12862	2203	4300	6503	SO:0001583	missense	64577	exon1			AGTGCGTTTGTTC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.14A>G	6.37:g.135271178T>C	ENSP00000265605:p.Asn5Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	110	43	0.390909	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	33	0.01510989010989011	30	0.06097560975609756	3	0.008287292817679558	0	0.0	0	0.0	T	14.25	2.479974	0.44044	0.032002	3.49E-4	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.75154	-0.91;-0.88;-0.87	6.14	-1.83	0.07833	.	1.633190	0.02930	N	0.139121	T	0.28699	0.0711	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.07121	-1.0789	10	0.21014	T	0.42	.	6.0545	0.19804	0.1131:0.3306:0.0:0.5563	rs56954234;rs61731728	5;5;5	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	S	5	ENSP00000265605:N5S;ENSP00000356819:N5S;ENSP00000356821:N5S	ENSP00000265605:N5S	N	-	2	0	ALDH8A1	135312871	0.000000	0.05858	0.000000	0.03702	0.932000	0.56968	0.157000	0.16402	-0.524000	0.06400	0.529000	0.55759	AAC	T|0.985;C|0.015	0.015	strong		0.453	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			C	135271178	T	C	135271178	3	2	22	1	0	0	0	0	1	0	0	0	505	1725	60	2	1477	2	ALDH8A1	6	135271178	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17144	135271178	35843889	3940	9048										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135287533	135287533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacctccccagctctttAaagtctttatatagctcaag	5	11	3	1	rs13064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135287533A>G	ENST00000367837.5	-	17	2183	c.1977T>C	c.(1975-1977)ttT>ttC	p.F659F	HBS1L_ENST00000415177.2_Silent_p.F594F|HBS1L_ENST00000527578.1_Silent_p.F495F|HBS1L_ENST00000367824.4_Silent_p.F495F|HBS1L_ENST00000445176.2_Silent_p.F383F|HBS1L_ENST00000367826.2_Silent_p.F617F	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	659					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCAGCTCTTTAAAGTCTTTAT	0.368													A|||	1299	0.259385	0.1906	0.2378	5008	,	,		16977	0.245		0.3549	False		,,,				2504	0.2843				p.F659F		Atlas-SNP	.											.	HBS1L	75	.	0			c.T1977C						PASS	.	A	,	1011,3395	376.8+/-322.2	113,785,1305	143	136	138		1851,1977	-9	0.4	6	dbSNP_52	138	3205,5395	484.5+/-371.4	595,2015,1690	no	coding-synonymous,coding-synonymous	HBS1L	NM_001145158.1,NM_006620.3	,	708,2800,2995	GG,GA,AA		37.2674,22.946,32.4158	,	617/643,659/685	135287533	4216,8790	2203	4300	6503	SO:0001819	synonymous_variant	10767	exon17			CTCTTTAAAGTCT	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1977T>C	6.37:g.135287533A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	109	45	0.412844	NM_006620	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1																																																																																			A|0.692;G|0.308	0.308	strong		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			G	135287533	A	G	135287533	2	3	22	1	0	0	0	0	0	0	0	1	6987	359	13	2		2	HBS1L	6	135287533	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16355	135287533	35827534	3941	9049										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135358398	135358398	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaaactggcagatgactgGttacaaaggtcagataaagt	12	5	1	4	rs116294454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135358398G>A	ENST00000367837.5	-	4	637				HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367822.5_Silent_p.N399N|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CAGATGACTGGTTACAAAGGT	0.408													G|||	88	0.0175719	0.0628	0.0072	5008	,	,		19700	0.0		0.0	False		,,,				2504	0.0				p.N399N		Atlas-SNP	.											.	HBS1L	75	.	0			c.C1197T						PASS	.	G	,,	48,1336		1,46,645	138	114	122		,1197,	3.8	0.5	6	dbSNP_132	122	2,3180		0,2,1589	no	intron,coding-synonymous,intron	HBS1L	NM_001145158.1,NM_001145207.1,NM_006620.3	,,	1,48,2234	AA,AG,GG		0.0629,3.4682,1.0951	,,	,399/633,	135358398	50,4516	692	1591	2283	SO:0001627	intron_variant	10767	exon5			TGACTGGTTACAA	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2312C>T	6.37:g.135358398G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1																																																																																			G|0.978;A|0.022	0.022	strong		0.408	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			A	135358398	G	A	135358398	1	1	22	0	1	0	0	0	0	0	0	0	6987	1252	44	2		2	HBS1L	6	135358398	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70865	135358398	35756669	3942	9050										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135358567	135358567	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacatttccaacttcagttTctttactagcatttaaatta	2	8	2	0	rs7742542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135358567T>G	ENST00000367837.5	-	4	637				HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.E343A|HBS1L_ENST00000367826.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACTTCAGTTTCTTTACTAGC	0.323													T|||	2338	0.466853	0.3381	0.4928	5008	,	,		19939	0.5347		0.4891	False		,,,				2504	0.5297				p.E343A		Atlas-SNP	.											.	HBS1L	75	.	0			c.A1028C						PASS	.						50	39	42					6																	135358567		692	1591	2283	SO:0001627	intron_variant	10767	exon5			TCAGTTTCTTTAC	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2143A>C	6.37:g.135358567T>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	140	74	0.528571	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	1040	0.47619047619047616	183	0.3719512195121951	171	0.4723756906077348	311	0.5437062937062938	375	0.4947229551451187	T	0.430	-0.903663	0.02453	.	.	ENSG00000112339	ENST00000367822	.	.	.	4.7	-2.0	0.07433	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.34725	-0.9817	6	0.28530	T	0.3	.	1.0202	0.01516	0.1539:0.1557:0.2315:0.4589	rs7742542;rs52802452;rs57741240;rs7742542	343	Q9Y450-2	.	A	343	.	ENSP00000356796:E343A	E	-	2	0	HBS1L	135400260	0.931000	0.31567	0.000000	0.03702	0.560000	0.35617	1.152000	0.31663	-0.425000	0.07371	0.533000	0.62120	GAA	T|0.538;G|0.462	0.462	strong		0.323	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			G	135358567	T	G	135358567	1	3	22	0	1	0	0	0	0	0	0	0	6987	1783	62	5		5	HBS1L	6	135358567	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	169	135358567	35756500	3943	9051										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135359073	135359073	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgagctagcaaaatcaaaGggtttgctactataatccaa	7	8	1	1	rs115458424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:135359073G>A	ENST00000367837.5	-	4	637				HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000525067.1_Missense_Mutation_p.P112L|HBS1L_ENST00000367822.5_Silent_p.P174P|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Silent_p.P174P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CAAAATCAAAGGGTTTGCTAC	0.343													G|||	91	0.0181709	0.0628	0.0072	5008	,	,		21502	0.0		0.001	False		,,,				2504	0.002				p.P174P		Atlas-SNP	.											.	HBS1L	75	.	0			c.C522T						PASS	.						100	73	81					6																	135359073		692	1590	2282	SO:0001627	intron_variant	10767	exon5			ATCAAAGGGTTTG	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+1637C>T	6.37:g.135359073G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	126	70	0.555556	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1	38	0.0173992673992674	33	0.06707317073170732	5	0.013812154696132596	0	0.0	0	0.0	G	1.871	-0.460307	0.04508	.	.	ENSG00000112339	ENST00000525067	.	.	.	5.23	-0.875	0.10628	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.33059	-0.9883	5	0.87932	D	0	.	3.928	0.09272	0.3333:0.0:0.2811:0.3855	.	.	.	.	L	112	.	ENSP00000435608:P112L	P	-	2	0	HBS1L	135400766	0.568000	0.26635	0.283000	0.24790	0.501000	0.33797	0.566000	0.23593	-0.076000	0.12775	0.650000	0.86243	CCT	G|0.979;A|0.021	0.021	strong		0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			A	135359073	G	A	135359073	1	1	22	0	1	0	0	0	0	0	0	0	6987	987	35	2		2	HBS1L	6	135359073	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	506	135359073	35755994	3944	9052										
FAM54A	113115	hgsc.bcm.edu	37	chr6	136560948	136560948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaatgcgctcgtcactcaaGccaaaggaacctacaaacaa	6	13	2	0	rs10484485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:136560948G>A	ENST00000420702.1	-	6	914	c.525C>T	c.(523-525)ggC>ggT	p.G175G	MTFR2_ENST00000451457.2_Silent_p.G175G	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	175					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											CGTCACTCAAGCCAAAGGAAC	0.428													G|||	293	0.0585064	0.208	0.0231	5008	,	,		19229	0.0		0.002	False		,,,				2504	0.0				p.G175G		Atlas-SNP	.											.	.	.	.	0			c.C525T						PASS	.	G	,	786,3620	311.6+/-292.2	74,638,1491	38	33	35		525,525	1.3	0	6	dbSNP_119	35	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	FAM54A	NM_001099286.1,NM_138419.3	,	74,643,5786	AA,AG,GG		0.0581,17.8393,6.0818	,	175/386,175/386	136560948	791,12215	2203	4300	6503	SO:0001819	synonymous_variant	113115	exon6			ACTCAAGCCAAAG	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.525C>T	6.37:g.136560948G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_138419	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Silent	SNP	ENST00000420702.1	37	CCDS5176.1																																																																																			G|0.939;A|0.061	0.061	strong		0.428	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		A	136560948	G	A	136560948	2	1	22	1	0	0	0	0	0	0	0	1	5582	958	34	2		2	FAM54A	6	136560948	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1201875	136560948	34554119	3945	9053										
FAM54A	113115	hgsc.bcm.edu	37	chr6	136570221	136570221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcatctctcttaagataTtcagtatgagagacattgat	7	8	3	4	rs147085272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:136570221T>C	ENST00000420702.1	-	2	406	c.17A>G	c.(16-18)aAt>aGt	p.N6S	MTFR2_ENST00000451457.2_Missense_Mutation_p.N6S|MTFR2_ENST00000445767.2_5'UTR	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	6					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											TCTTAAGATATTCAGTATGAG	0.358													T|||	49	0.00978435	0.0356	0.0029	5008	,	,		19511	0.0		0.0	False		,,,				2504	0.0				p.N6S		Atlas-SNP	.											.	.	.	.	0			c.A17G						PASS	.	T	SER/ASN,SER/ASN	124,4282	91.6+/-130.3	5,114,2084	81	76	78		17,17	1	0.1	6	dbSNP_134	78	0,8600		0,0,4300	yes	missense,missense	FAM54A	NM_001099286.1,NM_138419.3	46,46	5,114,6384	CC,CT,TT		0.0,2.8143,0.9534	benign,benign	6/386,6/386	136570221	124,12882	2203	4300	6503	SO:0001583	missense	113115	exon2			AAGATATTCAGTA	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.17A>G	6.37:g.136570221T>C	ENSP00000395232:p.Asn6Ser	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_138419	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	T	12.20	1.867291	0.32977	0.028143	0.0	ENSG00000146410	ENST00000451457;ENST00000420702	T;T	0.42900	0.96;0.96	4.85	0.955	0.19602	.	0.442859	0.25285	N	0.031765	T	0.11793	0.0287	L	0.36672	1.1	0.25226	N	0.989865	B	0.14438	0.01	B	0.12156	0.007	T	0.23226	-1.0194	10	0.87932	D	0	-9.0671	3.8762	0.09058	0.0:0.2276:0.1828:0.5896	.	6	Q6P444	FA54A_HUMAN	S	6	ENSP00000407010:N6S;ENSP00000395232:N6S	ENSP00000356758:N6S	N	-	2	0	FAM54A	136611914	0.991000	0.36638	0.053000	0.19242	0.995000	0.86356	0.177000	0.16801	-0.006000	0.14370	0.482000	0.46254	AAT	T|0.988;C|0.012	0.012	strong		0.358	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		C	136570221	T	C	136570221	3	2	22	1	0	0	0	0	1	0	0	0	5582	1493	52	2	1168	2	FAM54A	6	136570221	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9273	136570221	34544846	3946	9054										
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136589425	136589425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgagaactgggagaagaagGtgatgctgaagaggatgaag	17	3	0	7	rs77081633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:136589425G>T	ENST00000531224.1	-	10	2524	c.2272C>A	c.(2272-2274)Cct>Act	p.P758T	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P756T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P585T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P756T|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P758T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P756T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	758	Poly-Ser.				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)		GGAGAAGAAGGTGATGCTGAA	0.343													G|||	12	0.00239617	0.0	0.0014	5008	,	,		20171	0.0		0.0099	False		,,,				2504	0.001				p.P758T	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											.	BCLAF1	203	.	0			c.C2272A						PASS	.						134	118	123					6																	136589425		2203	4300	6503	SO:0001583	missense	9774	exon10			AAGAAGGTGATGC	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.2272C>A	6.37:g.136589425G>T	ENSP00000435210:p.Pro758Thr	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	263	48	0.18251	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	44	0.020146520146520148	1	0.0020325203252032522	5	0.013812154696132596	1	0.0017482517482517483	37	0.048812664907651716	G	8.714	0.912737	0.17907	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	4.87	3.74	0.42951	.	0.107851	0.41396	D	0.000887	T	0.04318	0.0119	N	0.14661	0.345	0.80722	D	1	B;P;B;B;B	0.36909	0.042;0.573;0.137;0.042;0.042	B;B;B;B;B	0.36666	0.031;0.23;0.031;0.031;0.031	T	0.14476	-1.0471	10	0.66056	D	0.02	-4.4078	6.3907	0.21585	0.2287:0.0:0.7713:0.0	.	756;86;756;758;585	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	T	758;756;758;585;756;756	ENSP00000435210:P758T;ENSP00000229446:P756T;ENSP00000435441:P758T;ENSP00000436501:P585T;ENSP00000434826:P756T;ENSP00000376159:P756T	ENSP00000229446:P756T	P	-	1	0	BCLAF1	136631118	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.955000	0.56715	2.431000	0.82371	0.484000	0.47621	CCT	G|0.976;T|0.024	0.024	strong		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136589425	G	T	136589425	3	4	22	1	0	0	0	0	1	0	0	0	1383	1261	44	4	506	4	BCLAF1	6	136589425	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19204	136589425	34525642	3947	9055										
MAP3K5	4217	hgsc.bcm.edu	37	chr6	136904783	136904783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagctttgacagtgtggtGgctatgatttttcggtcagt	12	6	2	2	rs78692210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:136904783G>A	ENST00000359015.4	-	24	3681	c.3321C>T	c.(3319-3321)gcC>gcT	p.A1107A	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Silent_p.A354A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1107					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACAGTGTGGTGGCTATGATTT	0.468													G|||	86	0.0171725	0.0356	0.0058	5008	,	,		13965	0.0268		0.0	False		,,,				2504	0.0082				p.A1107A		Atlas-SNP	.											.	MAP3K5	136	.	0			c.C3321T						PASS	.	G		99,4307	79.3+/-117.8	2,95,2106	157	137	143		3321	5.1	1	6	dbSNP_131	143	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	MAP3K5	NM_005923.3		2,110,6391	AA,AG,GG		0.1744,2.2469,0.8765		1107/1375	136904783	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	4217	exon24			TGTGGTGGCTATG	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3321C>T	6.37:g.136904783G>A		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	249	113	0.453815	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	CCDS5179.1																																																																																			G|0.988;A|0.012	0.012	strong		0.468	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	136904783	G	A	136904783	2	1	22	1	0	0	0	0	0	0	0	1	9253	1335	47	2		2	MAP3K5	6	136904783	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	315358	136904783	34210284	3948	9056										
SLC35D3	340146	hgsc.bcm.edu	37	chr6	137245567	137245567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcgcagctaagtggagaCcagctgccgttcgtgatgga	16	9	0	2	rs116512494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:137245567C>A	ENST00000331858.4	+	2	1149	c.984C>A	c.(982-984)gaC>gaA	p.D328E		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	328					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TAAGTGGAGACCAGCTGCCGT	0.622													C|||	50	0.00998403	0.0371	0.0014	5008	,	,		17722	0.0		0.0	False		,,,				2504	0.0				p.D328E		Atlas-SNP	.											.	SLC35D3	33	.	0			c.C984A						PASS	.	C	GLU/ASP	110,4296	78.3+/-116.7	1,108,2094	28	30	29		984	0.3	1	6	dbSNP_132	29	0,8600		0,0,4300	yes	missense	SLC35D3	NM_001008783.1	45	1,108,6394	AA,AC,CC		0.0,2.4966,0.8458	benign	328/417	137245567	110,12896	2203	4300	6503	SO:0001583	missense	340146	exon2			TGGAGACCAGCTG		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.984C>A	6.37:g.137245567C>A	ENSP00000333591:p.Asp328Glu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	105	59	0.561905	NM_001008783	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1	34	0.015567765567765568	33	0.06707317073170732	1	0.0027624309392265192	0	0.0	0	0.0	C	12.85	2.061537	0.36373	0.024966	0.0	ENSG00000182747	ENST00000331858	T	0.54279	0.58	5.99	0.297	0.15762	.	0.219154	0.44902	D	0.000414	T	0.14141	0.0342	N	0.19112	0.55	0.35092	D	0.764393	B	0.06786	0.001	B	0.04013	0.001	T	0.03306	-1.1050	10	0.37606	T	0.19	-11.3298	5.2593	0.15563	0.134:0.399:0.0:0.467	.	328	Q5M8T2	S35D3_HUMAN	E	328	ENSP00000333591:D328E	ENSP00000333591:D328E	D	+	3	2	SLC35D3	137287260	0.998000	0.40836	0.996000	0.52242	0.699000	0.40488	0.450000	0.21762	0.106000	0.17784	0.609000	0.83330	GAC	C|0.988;A|0.012	0.012	strong		0.622	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		A	137245567	C	A	137245567	3	1	22	1	0	0	0	0	1	0	0	0	14583	506	18	4	990	4	SLC35D3	6	137245567	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	340784	137245567	33869500	3949	9057										
IL20RA	53832	hgsc.bcm.edu	37	chr6	137323213	137323213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggactcttgctgggtgaGagaagtaccttccgtgtttt	14	7	1	2	rs1342642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:137323213G>A	ENST00000316649.5	-	7	1379	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	IL20RA_ENST00000367748.1_Missense_Mutation_p.L271F|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.L333F|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	382			L -> F (in dbSNP:rs1342642). {ECO:0000269|Ref.1}.		cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGCTGGGTGAGAGAAGTACCT	0.463													G|||	1000	0.199681	0.2383	0.183	5008	,	,		19502	0.0714		0.2594	False		,,,				2504	0.2301				p.L382F		Atlas-SNP	.											.	IL20RA	54	.	0			c.C1144T						PASS	.	G	PHE/LEU	977,3429	366.4+/-317.8	118,741,1344	79	74	76		1144	0.2	0	6	dbSNP_88	76	2322,6278	387.8+/-342.3	319,1684,2297	yes	missense	IL20RA	NM_014432.2	22	437,2425,3641	AA,AG,GG		27.0,22.1743,25.3652	possibly-damaging	382/554	137323213	3299,9707	2203	4300	6503	SO:0001583	missense	53832	exon7			GGGTGAGAGAAGT	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1144C>T	6.37:g.137323213G>A	ENSP00000314976:p.Leu382Phe	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	150	73	0.486667	NM_014432	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	450	0.20604395604395603	137	0.2784552845528455	69	0.19060773480662985	47	0.08216783216783216	197	0.2598944591029024	G	15.12	2.740564	0.49045	0.221743	0.27	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62232	0.3;1.76;0.04	5.76	0.246	0.15516	.	6.474150	0.00914	N	0.002515	T	0.48150	0.1484	L	0.56769	1.78	0.80722	P	0.0	P;P	0.49961	0.899;0.93	P;B	0.48840	0.592;0.38	T	0.18745	-1.0327	9	0.46703	T	0.11	-0.0228	6.7229	0.23340	0.0755:0.4712:0.3326:0.1207	rs1342642;rs17310128;rs52809262;rs61018497;rs1342642	271;382	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	F	382;271;333	ENSP00000314976:L382F;ENSP00000356722:L271F;ENSP00000437843:L333F	ENSP00000314976:L382F	L	-	1	0	IL20RA	137364906	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.732000	0.26072	0.013000	0.14918	0.655000	0.94253	CTC	G|0.794;N|0.001	.	strong		0.463	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		A	137323213	G	A	137323213	3	1	22	1	0	0	0	0	1	0	0	0	7668	942	33	2	521	2	IL20RA	6	137323213	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77646	137323213	33791854	3950	9058										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138196066	138196066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtactgaggaaggcgctgtTcagcacgctcaaggaaacag	14	9	2	1	rs2230926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:138196066T>G	ENST00000237289.4	+	3	446	c.380T>G	c.(379-381)tTc>tGc	p.F127C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	127	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.		F -> C (in dbSNP:rs2230926). {ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.L126fs*87(1)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGGCGCTGTTCAGCACGCTC	0.498			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								T|||	699	0.139577	0.4092	0.0778	5008	,	,		19066	0.0506		0.0239	False		,,,				2504	0.0297				p.F127C	GBM(130;153 1739 22295 28918 47987)	Atlas-SNP	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	TNFAIP3,eye,lymphoid_neoplasm,0,1	TNFAIP3	340	1	27	Whole gene deletion(25)|Deletion - In frame(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(27)	c.T380G	GRCh37	CM083789	TNFAIP3	M	rs2230926	PASS	.	T	CYS/PHE	1570,2836	491.8+/-362.2	290,990,923	120	109	112	http://omim.org/entry/612378|http://www.ncbi.nlm.nih.gov/pubmed?term	380	-0.1	0.9	6	dbSNP_98	112	276,8324	103.6+/-164.7	10,256,4034	yes	missense	TNFAIP3	NM_006290.2	205	300,1246,4957	GG,GT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	3.2093,35.6332,14.1934	benign	127/791	138196066	1846,11160	2203	4300	6503	SO:0001583	missense	7128	exon3			CGCTGTTCAGCAC	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.380T>G	6.37:g.138196066T>G	ENSP00000237289:p.Phe127Cys	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	180	94	0.522222	NM_001270507	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	270	0.12362637362637363	185	0.37601626016260165	27	0.07458563535911603	41	0.07167832167832168	17	0.022427440633245383	T	12.83	2.055887	0.36277	0.356332	0.032093	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.30714	1.52;1.52	5.97	-0.0566	0.13805	Ovarian tumour, otubain (2);	0.318945	0.38897	N	0.001540	T	0.06554	0.0168	L	0.31926	0.97	0.29434	P	0.85964	B	0.13594	0.008	B	0.17722	0.019	T	0.23154	-1.0196	9	0.32370	T	0.25	-4.7828	3.4675	0.07555	0.2368:0.0676:0.1098:0.5858	rs2230926;rs5029942;rs52802446;rs61407535;rs2230926	127	P21580	TNAP3_HUMAN	C	127	ENSP00000401562:F127C;ENSP00000237289:F127C	ENSP00000237289:F127C	F	+	2	0	TNFAIP3	138237759	1.000000	0.71417	0.922000	0.36590	0.934000	0.57294	1.341000	0.33907	0.125000	0.18397	0.533000	0.62120	TTC	T|0.857;G|0.143	0.143	strong		0.498	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			G	138196066	T	G	138196066	3	3	22	1	0	0	0	0	1	0	0	0	16271	1783	62	5	386	5	TNFAIP3	6	138196066	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	872853	138196066	32919001	3951	9059										
PBOV1	59351	hgsc.bcm.edu	37	chr6	138539372	138539372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttactttttctttttttCgaaataccttgtagcagaat	4	6	1	1	rs73774688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:138539372C>T	ENST00000527246.2	-	1	255	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TTCTTTTTTTCGAAATACCTt	0.398													C|||	33	0.00658946	0.0234	0.0029	5008	,	,		20845	0.0		0.0	False		,,,				2504	0.0				p.R54Q		Atlas-SNP	.											PBOV1_ENST00000527246,NS,carcinoma,-1,2	PBOV1	12	2	0			c.G161A						PASS	.	C	GLN/ARG,	107,4299	69.2+/-107.0	0,107,2096	124	121	122		161,	0.7	0	6	dbSNP_130	122	0,8600		0,0,4300	yes	missense,intron	KIAA1244,PBOV1	NM_021635.2,NM_020340.4	43,	0,107,6396	TT,TC,CC		0.0,2.4285,0.8227	probably-damaging,	54/136,	138539372	107,12899	2203	4300	6503	SO:0001583	missense	59351	exon1			TTTTTTCGAAATA	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.161G>A	6.37:g.138539372C>T	ENSP00000432353:p.Arg54Gln	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	160	75	0.46875	NM_021635		Missense_Mutation	SNP	ENST00000527246.2	37	CCDS5190.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	C	6.594	0.478015	0.12521	0.024285	0.0	ENSG00000254440	ENST00000527246	T	0.43294	0.95	2.62	0.733	0.18289	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	D	0.56035	0.974	B	0.32342	0.144	T	0.16394	-1.0404	9	0.87932	D	0	.	5.1595	0.15054	0.0:0.6937:0.0:0.3063	.	54	Q9GZY1	PBOV1_HUMAN	Q	54	ENSP00000432353:R54Q	ENSP00000432353:R54Q	R	-	2	0	PBOV1	138581065	0.004000	0.15560	0.005000	0.12908	0.122000	0.20287	0.148000	0.16224	0.034000	0.15491	-0.880000	0.02959	CGA	C|0.991;T|0.009	0.009	strong		0.398	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392617.1	NM_021635		T	138539372	C	T	138539372	3	4	22	1	0	0	0	0	1	0	0	0	11490	884	31	1	250	1	PBOV1	6	138539372	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	343306	138539372	32575695	3952	9060										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138584014	138584014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggagctgaaggatggggCtgagtggagccgagattcca	18	6	0	4	rs116596107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:138584014C>G	ENST00000251691.4	+	12	1560	c.1394C>G	c.(1393-1395)gCt>gGt	p.A465G		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGGATGGGGCTGAGTGGAGC	0.612													C|||	4	0.000798722	0.003	0.0	5008	,	,		21357	0.0		0.0	False		,,,				2504	0.0				p.A465G		Atlas-SNP	.											.	KIAA1244	236	.	0			c.C1394G						PASS	.	C	GLY/ALA	37,4369	42.3+/-75.8	0,37,2166	94	72	80		1394	1.7	0.1	6	dbSNP_132	80	0,8600		0,0,4300	yes	missense	KIAA1244	NM_020340.4	60	0,37,6466	GG,GC,CC		0.0,0.8398,0.2845	benign	465/2178	138584014	37,12969	2203	4300	6503	SO:0001583	missense	57221	exon12			ATGGGGCTGAGTG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1394C>G	6.37:g.138584014C>G	ENSP00000251691:p.Ala465Gly	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	122	65	0.532787	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.329	1.060068	0.19987	0.008398	0.0	ENSG00000112379	ENST00000251691	T	0.18960	2.18	5.62	1.68	0.24146	.	0.330121	0.29544	N	0.011855	T	0.05456	0.0144	L	0.36672	1.1	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.39761	-0.9598	10	0.23302	T	0.38	-25.5355	11.5601	0.50772	0.0:0.4804:0.4521:0.0675	.	465	Q5TH69	BIG3_HUMAN	G	465	ENSP00000251691:A465G	ENSP00000251691:A465G	A	+	2	0	KIAA1244	138625707	0.965000	0.33210	0.081000	0.20488	0.953000	0.61014	2.466000	0.45084	0.266000	0.21894	0.655000	0.94253	GCT	C|0.998;G|0.002	0.002	strong		0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138584014	C	G	138584014	3	3	22	1	0	0	0	0	1	0	0	0	8217	797	28	4	1440	4	KIAA1244	6	138584014	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44642	138584014	32531053	3953	9061										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138584685	138584685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcctccctcggctcctgTctctctccaatgtagaggag	9	16	2	1	rs7764091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:138584685T>G	ENST00000251691.4	+	12	2231	c.2065T>G	c.(2065-2067)Tct>Gct	p.S689A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGCTCCTGTCTCTCTCCAA	0.527													G|||	1487	0.296925	0.5749	0.2233	5008	,	,		19009	0.371		0.0895	False		,,,				2504	0.1104				p.S689A		Atlas-SNP	.											.	KIAA1244	236	.	0			c.T2065G						PASS	.	G	ALA/SER	2151,2245		544,1063,591	46	51	50		2065	5.2	1	6	dbSNP_116	50	739,7859		35,669,3595	yes	missense	KIAA1244	NM_020340.4	99	579,1732,4186	GG,GT,TT		8.595,48.9308,22.241	benign	689/2178	138584685	2890,10104	2198	4299	6497	SO:0001583	missense	57221	exon12			CTCCTGTCTCTCT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2065T>G	6.37:g.138584685T>G	ENSP00000251691:p.Ser689Ala	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	629	0.288003663003663	270	0.5487804878048781	71	0.19613259668508287	221	0.38636363636363635	67	0.08839050131926121	G	0.018	-1.468445	0.01053	0.489308	0.08595	ENSG00000112379	ENST00000251691	T	0.40476	1.03	5.17	5.17	0.71159	SEC7-like (1);	253.487000	0.00166	N	0.000000	T	0.06735	0.0172	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	9	0.02654	T	1	-32.0037	9.0639	0.36451	0.0735:0.0:0.7781:0.1483	rs7764091;rs52831040;rs58555015;rs7764091	689	Q5TH69	BIG3_HUMAN	A	689	ENSP00000251691:S689A	ENSP00000251691:S689A	S	+	1	0	KIAA1244	138626378	1.000000	0.71417	0.991000	0.47740	0.075000	0.17131	2.458000	0.45014	1.326000	0.45319	-0.121000	0.15023	TCT	T|0.728;G|0.272	0.272	strong		0.527	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138584685	T	G	138584685	3	3	22	1	0	0	0	0	1	0	0	0	8217	1667	58	5	2111	5	KIAA1244	6	138584685	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	671	138584685	32530382	3954	9062										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138645228	138645228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgccaggtgcgagtggcGgccccgtcctcctccccaag	14	17	0	0	rs3734301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:138645228G>A	ENST00000251691.4	+	31	5104	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCGAGTGGCGGCCCCGTCCT	0.642													G|||	1143	0.228235	0.6142	0.1484	5008	,	,		18962	0.1151		0.0626	False		,,,				2504	0.0501				p.A1646A		Atlas-SNP	.											KIAA1244,NS,carcinoma,+1,1	KIAA1244	236	1	0			c.G4938A						PASS	.	G		2271,2135	557.4+/-379.7	599,1073,531	42	48	46		4938	-10.9	0.2	6	dbSNP_107	46	535,8065	143.6+/-199.6	18,499,3783	no	coding-synonymous	KIAA1244	NM_020340.4		617,1572,4314	AA,AG,GG		6.2209,48.4567,21.5747		1646/2178	138645228	2806,10200	2203	4300	6503	SO:0001819	synonymous_variant	57221	exon31			AGTGGCGGCCCCG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4938G>A	6.37:g.138645228G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_020340		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			G|0.789;A|0.211	0.211	strong		0.642	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138645228	G	A	138645228	2	1	22	1	0	0	0	0	0	0	0	1	8217	1103	39	1		1	KIAA1244	6	138645228	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60543	138645228	32469839	3955	9063										
CCDC28A	25901	hgsc.bcm.edu	37	chr6	139094936	139094936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctgcggaggagcgggtCccgggatgtgaccggggctc	21	10	0	1	rs34538642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139094936C>A	ENST00000332797.6	+	1	280	c.125C>A	c.(124-126)tCc>tAc	p.S42Y		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	42			S -> Y (in dbSNP:rs34538642).							autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGGAGCGGGTCCCGGGATGTG	0.632													C|||	298	0.0595048	0.2148	0.0187	5008	,	,		16083	0.0		0.001	False		,,,				2504	0.0				p.S42Y		Atlas-SNP	.											.	CCDC28A	34	.	0			c.C125A						PASS	.	C	TYR/SER	746,3660	301.3+/-286.8	70,606,1527	83	103	96		125	-9.6	0	6	dbSNP_126	96	10,8590	7.7+/-29.5	0,10,4290	yes	missense	CCDC28A	NM_015439.2	144	70,616,5817	AA,AC,CC		0.1163,16.9315,5.8127	benign	42/275	139094936	756,12250	2203	4300	6503	SO:0001583	missense	25901	exon1			GCGGGTCCCGGGA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.125C>A	6.37:g.139094936C>A	ENSP00000332716:p.Ser42Tyr	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	270	126	0.466667	NM_015439	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	CCDS5192.1	98	0.04487179487179487	95	0.19308943089430894	3	0.008287292817679558	0	0.0	0	0.0	C	4.671	0.124775	0.08931	0.169315	0.001163	ENSG00000024862	ENST00000332797	T	0.26067	1.76	4.79	-9.58	0.00559	.	5.212620	0.00597	N	0.000373	T	0.01730	0.0055	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.07175	T	0.84	6.5122	2.2197	0.03969	0.342:0.154:0.3568:0.1471	rs34538642	42	Q8IWP9	CC28A_HUMAN	Y	42	ENSP00000332716:S42Y	ENSP00000332716:S42Y	S	+	2	0	CCDC28A	139136629	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.827000	0.04424	-2.758000	0.00371	-0.268000	0.10319	TCC	C|0.946;A|0.054	0.054	strong		0.632	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		A	139094936	C	A	139094936	3	1	22	1	0	0	0	0	1	0	0	0	2802	855	30	4	127	4	CCDC28A	6	139094936	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	449708	139094936	32020131	3956	9064										
ECT2L	345930	hgsc.bcm.edu	37	chr6	139170412	139170412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcattctccagatggtgAtggagagtgtgaaggctggt	15	5	2	4	rs75962473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139170412A>G	ENST00000423192.1	+	8	1071	c.910A>G	c.(910-912)Atg>Gtg	p.M304V	ECT2L_ENST00000541398.1_Missense_Mutation_p.M235V|ECT2L_ENST00000367682.2_Missense_Mutation_p.M304V			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	304							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGATGGTGATGGAGAGTGT	0.398			"N, Splice, Mis"		ETP ALL								G|||	67	0.0133786	0.0477	0.0058	5008	,	,		15878	0.0		0.0	False		,,,				2504	0.0				p.M304V		Atlas-SNP	.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L	75	.	0			c.A910G						PASS	.	G	VAL/MET,VAL/MET	132,3612		4,124,1744	213	193	199		910,910	3.8	0.7	6	dbSNP_131	199	4,8222		0,4,4109	yes	missense,missense	ECT2L	NM_001077706.2,NM_001195037.2	21,21	4,128,5853	GG,GA,AA		0.0486,3.5256,1.1362	benign,benign	304/905,304/905	139170412	136,11834	1872	4113	5985	SO:0001583	missense	345930	exon8			ATGGTGATGGAGA		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.910A>G	6.37:g.139170412A>G	ENSP00000387388:p.Met304Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	132	69	0.522727	NM_001195037	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	23	0.010531135531135532	20	0.04065040650406504	3	0.008287292817679558	0	0.0	0	0.0	G	0.004	-2.271576	0.00257	0.035256	4.86E-4	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.72942	0.41;0.41;-0.7	5.6	3.8	0.43715	.	1.849090	0.04925	N	0.455693	T	0.14056	0.0340	N	0.01109	-1.01	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34950	-0.9808	10	0.02654	T	1	-0.0057	7.1142	0.25407	0.1538:0.1408:0.7055:0.0	.	235;304	F5H7S9;Q008S8	.;ECT2L_HUMAN	V	304;304;235	ENSP00000387388:M304V;ENSP00000356655:M304V;ENSP00000442307:M235V	ENSP00000356655:M304V	M	+	1	0	ECT2L	139212105	1.000000	0.71417	0.718000	0.30602	0.010000	0.07245	0.951000	0.29135	0.406000	0.25560	-0.186000	0.12905	ATG	A|0.992;G|0.008	0.008	strong		0.398	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		G	139170412	A	G	139170412	3	3	22	1	0	0	0	0	1	0	0	0	4902	333	12	2	936	2	ECT2L	6	139170412	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75476	139170412	31944655	3957	9065										
HECA	51696	hgsc.bcm.edu	37	chr6	139488364	139488364	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgtgccaccgggcgctCccggtgttcgaacagttccc	12	17	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139488364C>G	ENST00000367658.2	+	2	1500	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	405					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACCGGGCGCTCCCGGTGTTCG	0.557																																					p.L405L		Atlas-SNP	.											.	HECA	45	.	0			c.C1215G						PASS	.						62	57	59					6																	139488364		2203	4300	6503	SO:0001819	synonymous_variant	51696	exon2			GGCGCTCCCGGTG	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1215C>G	6.37:g.139488364C>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	96	59	0.614583	NM_016217		Silent	SNP	ENST00000367658.2	37	CCDS5194.1																																																																																			.	.	none		0.557	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		G	139488364	C	G	139488364	2	3	22	1	0	0	0	0	0	0	0	1	7038	842	30	4		4	HECA	6	139488364	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	317952	139488364	31626703	3958	9066										
TXLNB	167838	hgsc.bcm.edu	37	chr6	139563914	139563914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctctggcttccaggacgCctgatcagcctgtgctccaa	10	15	2	1	rs9495391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139563914C>G	ENST00000358430.3	-	10	2036	c.1804G>C	c.(1804-1806)Gcg>Ccg	p.A602P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	602			A -> P (in dbSNP:rs9495391). {ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTCCAGGACGCCTGATCAGCC	0.612													G|||	2423	0.483826	0.9062	0.3588	5008	,	,		18081	0.2351		0.3638	False		,,,				2504	0.3814				p.A602P		Atlas-SNP	.											TXLNB,caecum,carcinoma,+2,2	TXLNB	96	2	0			c.G1804C						PASS	.	G	PRO/ALA	3565,841	325.9+/-299.3	1449,667,87	62	72	69		1804	2.6	0	6	dbSNP_119	69	3162,5438	651.3+/-400.8	566,2030,1704	yes	missense	TXLNB	NM_153235.3	27	2015,2697,1791	GG,GC,CC		36.7674,19.0876,48.2777	benign	602/685	139563914	6727,6279	2203	4300	6503	SO:0001583	missense	167838	exon10			AGGACGCCTGATC		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1804G>C	6.37:g.139563914C>G	ENSP00000351206:p.Ala602Pro	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	128	127	0.992188	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	929	0.42536630036630035	406	0.8252032520325203	129	0.356353591160221	130	0.22727272727272727	264	0.3482849604221636	G	10.58	1.391441	0.25118	0.809124	0.367674	ENSG00000164440	ENST00000358430	T	0.14516	2.5	3.49	2.59	0.31030	.	1.531680	0.03515	N	0.220216	T	0.02267	0.0070	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39121	-0.9629	8	.	.	.	-2.1905	9.6776	0.40050	0.0:0.4166:0.5834:0.0	rs9495391;rs52790733;rs57864218;rs9495391	602	Q8N3L3	TXLNB_HUMAN	P	602	ENSP00000351206:A602P	.	A	-	1	0	TXLNB	139605607	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.219000	0.09228	0.291000	0.22468	-0.120000	0.15030	GCG	C|0.511;G|0.489	0.489	strong		0.612	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		G	139563914	C	G	139563914	3	3	22	1	0	0	0	0	1	0	0	0	16785	739	26	4	254	4	TXLNB	6	139563914	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75550	139563914	31551153	3959	9067										
TXLNB	167838	hgsc.bcm.edu	37	chr6	139564101	139564101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagggggttgctctggctcCttgagagcggcgtcagcact	16	10	2	2	rs12529180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139564101C>T	ENST00000358430.3	-	10	1849	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	539						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTCTGGCTCCTTGAGAGCGG	0.557													C|||	272	0.0543131	0.0825	0.0533	5008	,	,		17514	0.001		0.0984	False		,,,				2504	0.0266				p.K539K		Atlas-SNP	.											.	TXLNB	96	.	0			c.G1617A						PASS	.	C		395,4011	178.7+/-207.4	21,353,1829	68	75	73		1617	1.5	0	6	dbSNP_120	73	873,7727	180.8+/-229.6	48,777,3475	no	coding-synonymous	TXLNB	NM_153235.3		69,1130,5304	TT,TC,CC		10.1512,8.965,9.7493		539/685	139564101	1268,11738	2203	4300	6503	SO:0001819	synonymous_variant	167838	exon10			TGGCTCCTTGAGA		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1617G>A	6.37:g.139564101C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	116	50	0.431034	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	CCDS34545.1																																																																																			C|0.908;T|0.092	0.092	strong		0.557	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139564101	C	T	139564101	2	4	22	1	0	0	0	0	0	0	0	1	16785	680	24	2		2	TXLNB	6	139564101	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	187	139564101	31550966	3960	9068										
TXLNB	167838	hgsc.bcm.edu	37	chr6	139576736	139576736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctcttgctccttcagcaCtttcgcctgaagtttccact	6	14	2	1	rs17068451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139576736C>T	ENST00000358430.3	-	7	1274	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	348			V -> M (in dbSNP:rs17068451). {ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCCTTCAGCACTTTCGCCTGA	0.527													C|||	1061	0.211861	0.5492	0.1311	5008	,	,		16958	0.0327		0.1501	False		,,,				2504	0.0613				p.V348M		Atlas-SNP	.											.	TXLNB	96	.	0			c.G1042A						PASS	.	C	MET/VAL	2131,2275	578.8+/-384.8	506,1119,578	106	86	93		1042	4.6	1	6	dbSNP_123	93	1334,7266	261.0+/-283.6	103,1128,3069	yes	missense	TXLNB	NM_153235.3	21	609,2247,3647	TT,TC,CC		15.5116,48.3659,26.6416	benign	348/685	139576736	3465,9541	2203	4300	6503	SO:0001583	missense	167838	exon7			TCAGCACTTTCGC		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1042G>A	6.37:g.139576736C>T	ENSP00000351206:p.Val348Met	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	447|447	0.20467032967032966|0.20467032967032966	261|261	0.5304878048780488|0.5304878048780488	51|51	0.1408839779005525|0.1408839779005525	14|14	0.024475524475524476|0.024475524475524476	121|121	0.15963060686015831|0.15963060686015831	C|C	11.17|11.17	1.560642|1.560642	0.27827|0.27827	0.483659|0.483659	0.155116|0.155116	ENSG00000164440|ENSG00000164440	ENST00000367652|ENST00000358430	.|T	.|0.29397	.|1.57	5.73|5.73	4.64|4.64	0.57946|0.57946	.|.	.|0.246085	.|0.45606	.|D	.|0.000351	T|T	0.04003|0.04003	0.0112|0.0112	N|N	0.03238|0.03238	-0.38|-0.38	0.36836|0.36836	P|P	0.11283299999999996|0.11283299999999996	.|B	.|0.29232	.|0.238	.|B	.|0.27380	.|0.079	T|T	0.30297|0.30297	-0.9983|-0.9983	4|8	.|.	.|.	.|.	-27.3255|-27.3255	4.2605|4.2605	0.10739|0.10739	0.0:0.6977:0.0:0.3023|0.0:0.6977:0.0:0.3023	rs17068451;rs56592445;rs58721508;rs17068451|rs17068451;rs56592445;rs58721508;rs17068451	.|348	.|Q8N3L3	.|TXLNB_HUMAN	N|M	60|348	.|ENSP00000351206:V348M	.|.	S|V	-|-	2|1	0|0	TXLNB|TXLNB	139618429|139618429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	1.465000|1.465000	0.35299|0.35299	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	AGT|GTG	C|0.754;T|0.246	0.246	strong		0.527	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139576736	C	T	139576736	3	4	22	1	0	0	0	0	1	0	0	0	16785	565	20	2	1028	2	TXLNB	6	139576736	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12635	139576736	31538331	3961	9069										
TXLNB	167838	hgsc.bcm.edu	37	chr6	139581461	139581461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatgataaatacatattcCttttctcgtttgtgtcgctc	5	8	1	1	rs6904970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:139581461C>T	ENST00000358430.3	-	6	1228	c.996G>A	c.(994-996)aaG>aaA	p.K332K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	332						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATACATATTCCTTTTCTCGTT	0.388													C|||	399	0.0796725	0.2141	0.0476	5008	,	,		18813	0.001		0.0517	False		,,,				2504	0.0307				p.K332K		Atlas-SNP	.											.	TXLNB	96	.	0			c.G996A						PASS	.	C		759,3647	304.4+/-288.4	78,603,1522	103	89	94		996	5.6	1	6	dbSNP_116	94	446,8154	132.3+/-190.0	14,418,3868	no	coding-synonymous	TXLNB	NM_153235.3		92,1021,5390	TT,TC,CC		5.186,17.2265,9.265		332/685	139581461	1205,11801	2203	4300	6503	SO:0001819	synonymous_variant	167838	exon6			ATATTCCTTTTCT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.996G>A	6.37:g.139581461C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	114	57	0.5	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	CCDS34545.1	146	0.06684981684981685	91	0.18495934959349594	14	0.03867403314917127	1	0.0017482517482517483	40	0.052770448548812667	C	8.483	0.860121	0.17178	0.172265	0.05186	ENSG00000164440	ENST00000367652	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.55121	-0.8190	3	.	.	.	-22.4848	12.9619	0.58464	0.0:0.9261:0.0:0.0739	rs6904970	.	.	.	R	45	.	.	G	-	1	0	TXLNB	139623154	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.579000	0.36536	2.676000	0.91093	0.591000	0.81541	GGA	C|0.915;T|0.085	0.085	strong		0.388	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139581461	C	T	139581461	2	4	22	1	0	0	0	0	0	0	0	1	16785	680	24	2		2	TXLNB	6	139581461	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4725	139581461	31533606	3962	9070										
FUCA2	2519	hgsc.bcm.edu	37	chr6	143816859	143816859	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactttagatcacattagtCagggctagagcccagcccca					rs8161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:143816859C>T	ENST00000002165.6	-	7	1444	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	463					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.L463L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TCACATTAGTCAGGGCTAGAG	0.448													T|||	2116	0.422524	0.4796	0.438	5008	,	,		18597	0.4821		0.339	False		,,,				2504	0.3589				p.L463L		Atlas-SNP	.											FUCA2,NS,carcinoma,0,1	FUCA2	28	1	1	Substitution - coding silent(1)	stomach(1)	c.G1389A						PASS	.	T		2070,2336	605.8+/-390.6	486,1098,619	88	74	79		1389	-1.4	0	6	dbSNP_52	79	2938,5662	668.3+/-402.5	523,1892,1885	yes	coding-synonymous	FUCA2	NM_032020.4		1009,2990,2504	TT,TC,CC		34.1628,46.9814,38.5053		463/468	143816859	5008,7998	2203	4300	6503	SO:0001819	synonymous_variant	2519	exon7			ATTAGTCAGGGCT	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1389G>A	6.37:g.143816859C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	117	52	0.444444	NM_032020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	CCDS5200.1																																																																																			C|0.585;T|0.415	0.415	strong		0.448	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		T	143816859	C	T	143816859	2	4	22	1	0	0	0	0	0	0	0	1	6095	813	29	2		2	FUCA2	6	143816859	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4235398	143816859	27298208	3963	9071	179	2								
FUCA2	2519	hgsc.bcm.edu	37	chr6	143816869	143816869	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacattagtcagggctagaGcccagccccatttacacggc					rs151156975		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:143816869G>A	ENST00000002165.6	-	7	1434	c.1379C>T	c.(1378-1380)gCt>gTt	p.A460V	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	460					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CAGGGCTAGAGCCCAGCCCCA	0.453																																					p.A460V		Atlas-SNP	.											.	FUCA2	28	.	0			c.C1379T						PASS	.	G	VAL/ALA	0,4406		0,0,2203	98	82	87		1379	5.4	0.8	6	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUCA2	NM_032020.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	460/468	143816869	1,13005	2203	4300	6503	SO:0001583	missense	2519	exon7			GCTAGAGCCCAGC	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1379C>T	6.37:g.143816869G>A	ENSP00000002165:p.Ala460Val	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	120	66	0.55	NM_032020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329383	0.05314	0.0	1.16E-4	ENSG00000001036	ENST00000002165	T	0.50001	0.76	5.44	5.44	0.79542	.	0.495248	0.23750	N	0.044936	T	0.10423	0.0255	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.12041	-1.0563	10	0.02654	T	1	-0.6766	12.588	0.56428	0.0758:0.0:0.9242:0.0	.	460	Q9BTY2	FUCO2_HUMAN	V	460	ENSP00000002165:A460V	ENSP00000002165:A460V	A	-	2	0	FUCA2	143858562	0.998000	0.40836	0.842000	0.33263	0.068000	0.16541	6.197000	0.72100	2.575000	0.86900	0.650000	0.86243	GCT	G|1.000;A|0.000	0.000	weak		0.453	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		A	143816869	G	A	143816869	3	1	22	1	0	0	0	0	1	0	0	0	6095	971	34	2	28	2	FUCA2	6	143816869	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10	143816869	27298198	3964	9072	179	2								
FUCA2	2519	hgsc.bcm.edu	37	chr6	143823112	143823112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgggatcgccaggtatGggtttcataaatagcttctc	10	8	3	0	rs3762001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:143823112G>A	ENST00000002165.6	-	5	1166	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	371			H -> Y (in dbSNP:rs3762001). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}.		fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CGCCAGGTATGGGTTTCATAA	0.428													G|||	852	0.170128	0.1233	0.1484	5008	,	,		15192	0.1696		0.2247	False		,,,				2504	0.1933				p.H371Y		Atlas-SNP	.											FUCA2,NS,carcinoma,0,1	FUCA2	28	1	0			c.C1111T						PASS	.	G	TYR/HIS	676,3730	286.3+/-278.7	52,572,1579	108	108	108		1111	-1.4	0	6	dbSNP_107	108	1934,6666	342.2+/-324.4	213,1508,2579	yes	missense	FUCA2	NM_032020.4	83	265,2080,4158	AA,AG,GG		22.4884,15.3427,20.0677	benign	371/468	143823112	2610,10396	2203	4300	6503	SO:0001583	missense	2519	exon5			AGGTATGGGTTTC	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1111C>T	6.37:g.143823112G>A	ENSP00000002165:p.His371Tyr	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	26	0.361111	NM_032020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	398	0.18223443223443223	71	0.1443089430894309	47	0.1298342541436464	104	0.18181818181818182	176	0.23218997361477572	G	9.312	1.055759	0.19907	0.153427	0.224884	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.70045	0.56;-0.45	5.98	-1.41	0.08941	.	0.825483	0.11409	N	0.566960	T	0.31451	0.0797	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.12863	-1.0531	9	0.59425	D	0.04	-0.0053	8.8493	0.35190	0.134:0.0:0.3068:0.5592	rs3762001;rs17854673;rs17857722;rs52815197;rs61174998;rs3762001	50;371	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	Y	371;50	ENSP00000002165:H371Y;ENSP00000398119:H50Y	ENSP00000002165:H371Y	H	-	1	0	FUCA2	143864805	0.556000	0.26538	0.001000	0.08648	0.726000	0.41606	1.172000	0.31908	-0.144000	0.11314	0.650000	0.86243	CAT	G|0.804;A|0.196	0.196	strong		0.428	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		A	143823112	G	A	143823112	3	1	22	1	0	0	0	0	1	0	0	0	6095	1348	47	2	304	2	FUCA2	6	143823112	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6243	143823112	27291955	3965	9073										
FUCA2	2519	hgsc.bcm.edu	37	chr6	143823157	143823157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttttagccaggaccccaTttgcctcagtcgctcctcaa	7	15	2	0	rs3762002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:143823157T>C	ENST00000002165.6	-	5	1121	c.1066A>G	c.(1066-1068)Atg>Gtg	p.M356V	RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	356			M -> V (in dbSNP:rs3762002). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}.		fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CAGGACCCCATTTGCCTCAGT	0.448													T|||	1164	0.232428	0.3396	0.1859	5008	,	,		14611	0.1687		0.2247	False		,,,				2504	0.1943				p.M356V		Atlas-SNP	.											.	FUCA2	28	.	0			c.A1066G						PASS	.	T	VAL/MET	1408,2998	462.4+/-353.2	231,946,1026	96	94	95		1066	6	1	6	dbSNP_107	95	1945,6655	343.2+/-324.8	216,1513,2571	yes	missense	FUCA2	NM_032020.4	21	447,2459,3597	CC,CT,TT		22.6163,31.9564,25.7804	benign	356/468	143823157	3353,9653	2203	4300	6503	SO:0001583	missense	2519	exon5			ACCCCATTTGCCT	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1066A>G	6.37:g.143823157T>C	ENSP00000002165:p.Met356Val	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_032020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	504	0.23076923076923078	164	0.3333333333333333	60	0.16574585635359115	104	0.18181818181818182	176	0.23218997361477572	T	11.97	1.797932	0.31777	0.319564	0.226163	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.56941	0.43;0.43	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.074659	0.85682	D	0.000000	T	0.23370	0.0565	L	0.31420	0.93	0.09310	P	1.0	B;B	0.23128	0.08;0.044	B;B	0.24006	0.05;0.034	T	0.11227	-1.0596	9	0.20046	T	0.44	-24.5233	12.26	0.54645	0.0:0.0673:0.0:0.9327	rs3762002;rs17849713;rs17854672;rs52821129;rs60454233;rs3762002	35;356	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	V	356;35	ENSP00000002165:M356V;ENSP00000398119:M35V	ENSP00000002165:M356V	M	-	1	0	FUCA2	143864850	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.814000	0.62627	2.288000	0.76882	0.528000	0.53228	ATG	T|0.749;C|0.251	0.251	strong		0.448	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		C	143823157	T	C	143823157	3	2	22	1	0	0	0	0	1	0	0	0	6095	1493	52	2	349	2	FUCA2	6	143823157	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45	143823157	27291910	3966	9074										
LTV1	84946	hgsc.bcm.edu	37	chr6	144183376	144183376	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgggattgtgaatctatTtgtagtaagtatattcactt	9	3	2	1	rs56155985	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:144183376T>C	ENST00000367576.5	+	8	1193	c.1059T>C	c.(1057-1059)atT>atC	p.I353I	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	353						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		GTGAATCTATTTGTAGTAAGT	0.388													T|||	353	0.0704872	0.2368	0.0346	5008	,	,		18790	0.0		0.0139	False		,,,				2504	0.002				p.I353I		Atlas-SNP	.											.	LTV1	48	.	0			c.T1059C						PASS	.	T		781,3625	313.3+/-293.0	72,637,1494	91	90	90		1059	0.3	1	6	dbSNP_129	90	89,8511	50.2+/-110.2	1,87,4212	no	coding-synonymous	LTV1	NM_032860.3		73,724,5706	CC,CT,TT		1.0349,17.7258,6.6892		353/476	144183376	870,12136	2203	4300	6503	SO:0001819	synonymous_variant	84946	exon8			ATCTATTTGTAGT	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1059T>C	6.37:g.144183376T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	46	27	0.586957	NM_032860	Q96JX8	Silent	SNP	ENST00000367576.5	37	CCDS5201.1																																																																																			T|0.936;C|0.064	0.064	strong		0.388	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		C	144183376	T	C	144183376	2	2	22	1	0	0	0	0	0	0	0	1	9081	1829	64	2		2	LTV1	6	144183376	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	360219	144183376	26931691	3967	9075										
UTRN	7402	hgsc.bcm.edu	37	chr6	145051594	145051594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaattgaggcccctgaagaGccaagaagaaacctacaatc	8	12	0	5	rs4305737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:145051594G>A	ENST00000367545.3	+	53	7911	c.7911G>A	c.(7909-7911)gaG>gaA	p.E2637E	UTRN_ENST00000367526.4_Silent_p.E192E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2637					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCTGAAGAGCCAAGAAGAA	0.443													A|||	3219	0.642772	0.9123	0.6225	5008	,	,		13715	0.8681		0.2286	False		,,,				2504	0.4867				p.E2637E		Atlas-SNP	.											.	UTRN	327	.	0			c.G7911A						PASS	.	A		3479,927	354.6+/-312.7	1376,727,100	67	73	71		7911	2.7	1	6	dbSNP_111	71	2174,6426	712.7+/-405.9	280,1614,2406	no	coding-synonymous	UTRN	NM_007124.2		1656,2341,2506	AA,AG,GG		25.2791,21.0395,43.4646		2637/3434	145051594	5653,7353	2203	4300	6503	SO:0001819	synonymous_variant	7402	exon53			TGAAGAGCCAAGA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7911G>A	6.37:g.145051594G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	35	6	0.171429	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																			G|0.490;A|0.510	0.510	strong		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	145051594	G	A	145051594	2	1	22	1	0	0	0	0	0	0	0	1	17100	962	34	2		2	UTRN	6	145051594	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	868218	145051594	26063473	3968	9076										
SHPRH	257218	hgsc.bcm.edu	37	chr6	146276280	146276280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccacttcttcctttagaCtatcacttagaatgatataa	5	9	2	3	rs182151362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:146276280C>T	ENST00000367505.2	-	2	443	c.179G>A	c.(178-180)aGt>aAt	p.S60N	SHPRH_ENST00000275233.7_Missense_Mutation_p.S60N|SHPRH_ENST00000367503.3_Missense_Mutation_p.S60N|SHPRH_ENST00000438092.2_Missense_Mutation_p.S60N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	60					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCTTTAGACTATCACTTAG	0.408													C|||	22	0.00439297	0.0144	0.0014	5008	,	,		18451	0.0		0.002	False		,,,				2504	0.0				p.S60N		Atlas-SNP	.											.	SHPRH	169	.	0			c.G179A						PASS	.	C	ASN/SER,ASN/SER	53,3687		0,53,1817	106	97	100		179,179	1.9	0	6		100	4,8210		0,4,4103	yes	missense,missense	SHPRH	NM_001042683.2,NM_173082.3	46,46	0,57,5920	TT,TC,CC		0.0487,1.4171,0.4768	benign,benign	60/1684,60/1660	146276280	57,11897	1870	4107	5977	SO:0001583	missense	257218	exon2			TTTAGACTATCAC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.179G>A	6.37:g.146276280C>T	ENSP00000356475:p.Ser60Asn	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	115	52	0.452174	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	4.394	0.072688	0.08436	0.014171	4.87E-4	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.66	1.9	0.25705	.	0.291823	0.32068	N	0.006636	T	0.34250	0.0891	L	0.50333	1.59	0.09310	N	1	B;B	0.31548	0.22;0.328	B;B	0.32864	0.073;0.154	T	0.21690	-1.0238	10	0.49607	T	0.09	0.0517	8.8158	0.34996	0.0:0.6472:0.0:0.3528	.	60;60	Q149N8;Q149N8-4	SHPRH_HUMAN;.	N	60	ENSP00000356475:S60N;ENSP00000356473:S60N;ENSP00000412797:S60N;ENSP00000275233:S60N	ENSP00000275233:S60N	S	-	2	0	SHPRH	146317973	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.321000	0.19558	0.332000	0.23536	-0.136000	0.14681	AGT	C|0.998;T|0.002	0.002	strong		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146276280	C	T	146276280	3	4	22	1	0	0	0	0	1	0	0	0	14291	565	20	2	5032	2	SHPRH	6	146276280	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1224686	146276280	24838787	3969	9077										
GRM1	2911	hgsc.bcm.edu	37	chr6	146755561	146755561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtacccgcccccgccacctCcgcagcacctgcagatgctg	9	20	0	1	rs146753539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:146755561C>G	ENST00000282753.1	+	8	3449	c.3214C>G	c.(3214-3216)Ccg>Gcg	p.P1072A	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1072A|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1072	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCACCTCCGCAGCACCT	0.682													C|||	28	0.00559105	0.0174	0.0043	5008	,	,		14178	0.0		0.002	False		,,,				2504	0.0				p.P1072A		Atlas-SNP	.											GRM1,NS,carcinoma,-1,1	GRM1	419	1	0			c.C3214G						PASS	.	C	ALA/PRO,	67,4321		0,67,2127	29	33	32		3214,	2.9	0.5	6	dbSNP_134	32	12,8572		0,12,4280	yes	missense,utr-3	GRM1	NM_000838.3,NM_001114329.1	27,	0,79,6407	GG,GC,CC		0.1398,1.5269,0.609	benign,	1072/1195,	146755561	79,12893	2194	4292	6486	SO:0001583	missense	2911	exon9			CCACCTCCGCAGC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3214C>G	6.37:g.146755561C>G	ENSP00000282753:p.Pro1072Ala	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	23	0.338235	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	13	0.005952380952380952	10	0.02032520325203252	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	9.887	1.203100	0.22121	0.015269	0.001398	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87809	-2.3;-2.3	5.71	2.87	0.33458	.	0.283949	0.40144	N	0.001180	T	0.65386	0.2686	L	0.29908	0.895	0.22142	N	0.999333	B	0.13594	0.008	B	0.16722	0.016	T	0.60383	-0.7274	10	0.51188	T	0.08	.	9.181	0.37141	0.0:0.7456:0.1201:0.1343	.	1072	Q13255	GRM1_HUMAN	A	1072	ENSP00000354896:P1072A;ENSP00000282753:P1072A	ENSP00000282753:P1072A	P	+	1	0	GRM1	146797254	0.024000	0.19004	0.468000	0.27192	0.601000	0.36947	0.978000	0.29488	0.730000	0.32425	0.462000	0.41574	CCG	C|0.993;G|0.007	0.007	strong		0.682	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		G	146755561	C	G	146755561	3	3	22	1	0	0	0	0	1	0	0	0	6796	855	30	4	3309	4	GRM1	6	146755561	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	479281	146755561	24359506	3970	9078										
SASH1	23328	hgsc.bcm.edu	37	chr6	148792617	148792617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgaaagaaccagaaaggAataatgagacagacttcaaa	8	7	1	4	rs1883625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:148792617A>G	ENST00000367467.3	+	6	967	c.492A>G	c.(490-492)ggA>ggG	p.G164G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	164					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCAGAAAGGAATAATGAGAC	0.368													A|||	1088	0.217252	0.4017	0.0965	5008	,	,		16207	0.1389		0.1402	False		,,,				2504	0.2137				p.G164G		Atlas-SNP	.											.	SASH1	123	.	0			c.A492G						PASS	.	A		1511,2895	476.4+/-357.6	250,1011,942	58	57	58		492	3.3	1	6	dbSNP_92	58	1022,7578	213.5+/-253.4	56,910,3334	no	coding-synonymous	SASH1	NM_015278.3		306,1921,4276	GG,GA,AA		11.8837,34.2941,19.4756		164/1248	148792617	2533,10473	2203	4300	6503	SO:0001819	synonymous_variant	23328	exon6			GAAAGGAATAATG	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.492A>G	6.37:g.148792617A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	212	101	0.476415	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																			A|0.811;G|0.189	0.189	strong		0.368	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		G	148792617	A	G	148792617	2	3	22	1	0	0	0	0	0	0	0	1	13848	233	9	2		2	SASH1	6	148792617	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2037056	148792617	22322450	3971	9079										
TAB2	23118	hgsc.bcm.edu	37	chr6	149699333	149699333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaccatggaagagaaggAagtaggatgaatggaagtag	14	4	0	2	rs13215304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:149699333A>G	ENST00000367456.1	+	4	859	c.282A>G	c.(280-282)ggA>ggG	p.G94G	TAB2_ENST00000286332.5_Silent_p.G94G|TAB2_ENST00000392282.1_Silent_p.G94G|TAB2_ENST00000536230.1_Silent_p.G62G|TAB2_ENST00000538427.1_Silent_p.G94G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	94					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GAAGAGAAGGAAGTAGGATGA	0.428													A|||	55	0.0109824	0.0	0.0288	5008	,	,		20789	0.001		0.0328	False		,,,				2504	0.001				p.G94G		Atlas-SNP	.											TAB2,NS,carcinoma,+2,1	TAB2	55	1	0			c.A282G						scavenged	.	A		32,4374	36.0+/-67.5	0,32,2171	132	115	120		282	3.3	1	6	dbSNP_121	120	268,8332	103.1+/-164.3	4,260,4036	no	coding-synonymous	TAB2	NM_015093.4		4,292,6207	GG,GA,AA		3.1163,0.7263,2.3066		94/694	149699333	300,12706	2203	4300	6503	SO:0001819	synonymous_variant	23118	exon5			AGAAGGAAGTAGG	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.282A>G	6.37:g.149699333A>G		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	141	70	0.496454	NM_015093	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	CCDS5214.1																																																																																			A|0.977;G|0.023	0.023	strong		0.428	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			G	149699333	A	G	149699333	2	3	22	1	0	0	0	0	0	0	0	1	15493	233	9	2		2	TAB2	6	149699333	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	906716	149699333	21415734	3972	9080										
ZC3H12D	340152	hgsc.bcm.edu	37	chr6	149777914	149777914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagacgatgacgccgtcctGctcgtaggccaccttcacga	12	14	1	2	rs200917878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:149777914G>T	ENST00000409806.3	-	4	886	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.Q190K|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.Q190K|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.Q190K			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	190					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		ACGCCGTCCTGCTCGTAGGCC	0.627													G|||	13	0.00259585	0.0076	0.0029	5008	,	,		12923	0.001		0.0	False		,,,				2504	0.0				p.Q190K		Atlas-SNP	.											.	ZC3H12D	21	.	0			c.C568A						PASS	.	G	LYS/GLN	63,4247		1,61,2093	85	95	92		568	1.6	1	6		92	1,8539		0,1,4269	yes	missense	ZC3H12D	NM_207360.2	53	1,62,6362	TT,TG,GG		0.0117,1.4617,0.4981	benign	190/528	149777914	64,12786	2155	4270	6425	SO:0001583	missense	340152	exon4			CGTCCTGCTCGTA			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.568C>A	6.37:g.149777914G>T	ENSP00000386616:p.Gln190Lys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_207360	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.330416|1.330416	0.24167|0.24167	0.014617|0.014617	1.17E-4|1.17E-4	ENSG00000178199|ENSG00000178199	ENST00000458251|ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	.|T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13	4.84|4.84	1.63|1.63	0.23807|0.23807	.|Ribonuclease Zc3h12a-like (1);	.|0.660796	.|0.14612	.|N	.|0.308967	T|T	0.01387|0.01387	0.0045|0.0045	N|N	0.00035|0.00035	-2.545|-2.545	0.20403|0.20403	N|N	0.999907|0.999907	.|B;B	.|0.10296	.|0.003;0.0	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.47328|0.47328	-0.9126|-0.9126	5|10	.|0.02654	.|T	.|1	-11.5336|-11.5336	5.6416|5.6416	0.17567|0.17567	0.183:0.0:0.4125:0.4045|0.183:0.0:0.4125:0.4045	.|.	.|190;190	.|A2A288;B7WNU7	.|ZC12D_HUMAN;.	E|K	31|190	.|ENSP00000374592:Q190K;ENSP00000408686:Q190K;ENSP00000386616:Q190K;ENSP00000440813:Q190K	.|ENSP00000374592:Q190K	A|Q	-|-	2|1	0|0	ZC3H12D|ZC3H12D	149819607|149819607	0.890000|0.890000	0.30428|0.30428	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	1.503000|1.503000	0.35715|0.35715	0.574000|0.574000	0.29417|0.29417	0.561000|0.561000	0.74099|0.74099	GCA|CAG	.	.	weak		0.627	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		T	149777914	G	T	149777914	3	4	22	1	0	0	0	0	1	0	0	0	17561	1328	46	4	1027	4	ZC3H12D	6	149777914	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78581	149777914	21337153	3973	9081										
LRP11	84918	hgsc.bcm.edu	37	chr6	150158486	150158486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactcacgattctggcagaAgtcttcatcagacccatcag	7	13	6	2	rs375299752		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150158486A>G	ENST00000239367.2	-	4	1032	c.1027T>C	c.(1027-1029)Ttc>Ctc	p.F343L	LRP11_ENST00000546019.1_Missense_Mutation_p.F88L|LRP11_ENST00000463728.1_5'Flank	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	343	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TTCTGGCAGAAGTCTTCATCA	0.517																																					p.F343L		Atlas-SNP	.											.	LRP11	27	.	0			c.T1027C						PASS	.	A	LEU/PHE	2,4404	4.2+/-10.8	0,2,2201	122	101	108		1027	5.3	0.9	6		108	0,8600		0,0,4300	no	missense	LRP11	NM_032832.5	22	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	343/501	150158486	2,13004	2203	4300	6503	SO:0001583	missense	84918	exon4			GGCAGAAGTCTTC	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1027T>C	6.37:g.150158486A>G	ENSP00000239367:p.Phe343Leu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	107	41	0.383178	NM_032832	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958758	0.92726	4.54E-4	0.0	ENSG00000120256	ENST00000239367;ENST00000546019	D;D	0.95272	-3.66;-3.66	5.32	5.32	0.75619	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94587	0.7784	10	0.51188	T	0.08	-22.8051	14.5589	0.68120	1.0:0.0:0.0:0.0	.	343	Q86VZ4	LRP11_HUMAN	L	343;88	ENSP00000239367:F343L;ENSP00000440196:F88L	ENSP00000239367:F343L	F	-	1	0	LRP11	150200179	1.000000	0.71417	0.923000	0.36655	0.767000	0.43475	8.118000	0.89577	2.134000	0.65973	0.455000	0.32223	TTC	.	.	weak		0.517	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		G	150158486	A	G	150158486	3	3	22	1	0	0	0	0	1	0	0	0	8953	72	3	3	491	3	LRP11	6	150158486	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	380572	150158486	20956581	3974	9082										
RAET1E	135250	hgsc.bcm.edu	37	chr6	150210681	150210681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggatttctctccattgGtggcgaactgccaggatgca	14	9	1	0	rs9371533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150210681G>A	ENST00000357183.4	-	3	557	c.425C>T	c.(424-426)aCc>aTc	p.T142I	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Missense_Mutation_p.T142I|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.T142I|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.T106I	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	142	MHC class I alpha-2 like.		T -> I (in dbSNP:rs9371533).	AT -> TI (in Ref. 8; AAL76417). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCTCCATTGGTGGCGAACTG	0.468													N|||	3435	0.685903	0.8442	0.5447	5008	,	,		21656	0.8968		0.4324	False		,,,				2504	0.6155				p.T142I		Atlas-SNP	.											RAET1E,NS,carcinoma,+1,2	RAET1E	20	2	0			c.C425T						PASS	.	A	ILE/THR	3478,928	353.3+/-312.1	1384,710,109	156	127	137		425	-1.8	0	6	dbSNP_119	137	3544,5056	631.0+/-398.4	742,2060,1498	yes	missense	RAET1E	NM_139165.2	89	2126,2770,1607	AA,AG,GG		41.2093,21.0622,46.0095	benign	142/264	150210681	7022,5984	2203	4300	6503	SO:0001583	missense	135250	exon3			CCATTGGTGGCGA	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.425C>T	6.37:g.150210681G>A	ENSP00000349709:p.Thr142Ile	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	271	118	0.435424	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	CCDS5221.1	1415	0.6478937728937729	397	0.806910569105691	200	0.5524861878453039	503	0.8793706293706294	315	0.4155672823218997	A	3.644	-0.072921	0.07228	0.789378	0.412093	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.06068	3.35;3.35;5.85;3.35	3.68	-1.75	0.08031	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.757356	0.11741	N	0.534006	T	0.00300	0.0009	N	0.00159	-1.955	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35847	-0.9772	9	0.07644	T	0.81	-6.9511	4.4433	0.11584	0.3415:0.3442:0.3142:0.0	rs9371533;rs59091272;rs9371533	142;106;142	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	I	142;142;106;142	ENSP00000437067:T142I;ENSP00000349709:T142I;ENSP00000356332:T106I;ENSP00000432366:T142I	ENSP00000349709:T142I	T	-	2	0	RAET1E	150252374	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.847000	0.27696	-0.637000	0.05516	-1.330000	0.01273	ACC	G|0.403;A|0.597	0.597	strong		0.468	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		A	150210681	G	A	150210681	3	1	22	1	0	0	0	0	1	0	0	0	12999	1261	44	2	374	2	RAET1E	6	150210681	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52195	150210681	20904386	3975	9083										
RAET1G	353091	hgsc.bcm.edu	37	chr6	150239330	150239330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcactccaaaggactctCctcagcagccaggtaggatg	10	13	3	0	rs17079029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150239330C>T	ENST00000367360.2	-	4	889	c.822G>A	c.(820-822)agG>agA	p.R274R	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AAAGGACTCTCCTCAGCAGCC	0.597													N|||	1137	0.227037	0.1021	0.111	5008	,	,		21265	0.5367		0.1511	False		,,,				2504	0.2372				p.R274R		Atlas-SNP	.											.	RAET1G	31	.	0			c.G822A						PASS	.	C		489,3917	227.8+/-242.9	24,441,1738	102	109	106		822	-4.1	0	6	dbSNP_123	106	1131,7469	233.9+/-267.0	83,965,3252	no	coding-synonymous	RAET1G	NM_001001788.2		107,1406,4990	TT,TC,CC		13.1512,11.0985,12.4558		274/335	150239330	1620,11386	2203	4300	6503	SO:0001819	synonymous_variant	353091	exon4			GACTCTCCTCAGC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.822G>A	6.37:g.150239330C>T		Somatic	467	0	0		WXS	Illumina HiSeq	Phase_I	422	214	0.507109	NM_001001788		Silent	SNP	ENST00000367360.2	37	CCDS43514.1																																																																																			C|0.785;T|0.215	0.215	strong		0.597	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			T	150239330	C	T	150239330	2	4	22	1	0	0	0	0	0	0	0	1	13000	854	30	2		2	RAET1G	6	150239330	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28649	150239330	20875737	3976	9084										
RAET1G	353091	hgsc.bcm.edu	37	chr6	150240829	150240829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggactgacgggtgtgactGtcttgctgccacagtcatag	15	9	2	2	rs9397449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150240829G>C	ENST00000367360.2	-	2	276	c.209C>G	c.(208-210)aCa>aGa	p.T70R	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T70R	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GGGTGTGACTGTCTTGCTGCC	0.517													g|||	1132	0.226038	0.1021	0.111	5008	,	,		20972	0.5317		0.1501	False		,,,				2504	0.2382				p.T70R		Atlas-SNP	.											.	RAET1G	31	.	0			c.C209G						PASS	.	C	ARG/THR	492,3914	780.8+/-414.5	27,438,1738	278	261	267		209	-2	0	6	dbSNP_119	267	1130,7470	767.0+/-407.6	83,964,3253	no	missense	RAET1G	NM_001001788.2	71	110,1402,4991	CC,CG,GG		13.1395,11.1666,12.4712	benign	70/335	150240829	1622,11384	2203	4300	6503	SO:0001583	missense	353091	exon2			GTGACTGTCTTGC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.209C>G	6.37:g.150240829G>C	ENSP00000356329:p.Thr70Arg	Somatic	916	1	0.0010917		WXS	Illumina HiSeq	Phase_I	891	333	0.373737	NM_001001788		Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	503	0.2303113553113553	47	0.09552845528455285	46	0.1270718232044199	308	0.5384615384615384	102	0.1345646437994723	C	2.358	-0.347240	0.05208	0.111666	0.131395	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00626	6.13;6.13	2.4	-2.05	0.07321	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.80722	P	0.0	B	0.21688	0.059	B	0.26094	0.066	T	0.43540	-0.9385	8	0.02654	T	1	.	0.992	0.01459	0.1668:0.1581:0.398:0.2771	rs9397449;rs60358512;rs9397449	70	Q6H3X3	RET1G_HUMAN	R	70	ENSP00000356329:T70R;ENSP00000417503:T70R	ENSP00000356329:T70R	T	-	2	0	RAET1G	150282522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.137000	0.01304	-0.955000	0.03636	-3.292000	0.00046	ACA	G|0.807;C|0.193	0.193	strong		0.517	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			C	150240829	G	C	150240829	3	2	22	1	0	0	0	0	1	0	0	0	13000	1377	48	4	811	4	RAET1G	6	150240829	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1499	150240829	20874238	3977	9085										
ULBP1	80329	hgsc.bcm.edu	37	chr6	150285209	150285209	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcggccgccagccccgcGttccttctgtgcctcccgct	11	20	1	0	rs61742437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150285209G>C	ENST00000229708.3	+	1	67	c.24G>C	c.(22-24)gcG>gcC	p.A8A		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	8					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCAGCCCCGCGTTCCTTCTGT	0.642													G|||	875	0.17472	0.4569	0.1124	5008	,	,		14283	0.0109		0.1064	False		,,,				2504	0.0767				p.A8A		Atlas-SNP	.											.	ULBP1	25	.	0			c.G24C						PASS	.	G		1724,2682	502.2+/-365.2	354,1016,833	43	48	46		24	0.7	0	6	dbSNP_129	46	808,7792	184.3+/-232.3	37,734,3529	no	coding-synonymous	ULBP1	NM_025218.2		391,1750,4362	CC,CG,GG		9.3953,39.1285,19.4679		8/245	150285209	2532,10474	2203	4300	6503	SO:0001819	synonymous_variant	80329	exon1			CCCCGCGTTCCTT	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.24G>C	6.37:g.150285209G>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	151	74	0.490066	NM_025218	Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	ENST00000229708.3	37	CCDS5223.1																																																																																			G|0.819;C|0.181	0.181	strong		0.642	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			C	150285209	G	C	150285209	2	2	22	1	0	0	0	0	0	0	0	1	16969	1132	40	4		4	ULBP1	6	150285209	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44380	150285209	20829858	3978	9086										
RAET1L	154064	hgsc.bcm.edu	37	chr6	150342232	150342232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagtcaaagagtaggaagGtctgtccatcgatactgaac	11	8	2	3	rs61730071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150342232G>A	ENST00000367341.1	-	3	439	c.440C>T	c.(439-441)aCc>aTc	p.T147I	RAET1L_ENST00000286380.2_Missense_Mutation_p.T147I			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	147	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GAGTAGGAAGGTCTGTCCATC	0.502													A|||	1648	0.329073	0.3033	0.2925	5008	,	,		19640	0.2401		0.4394	False		,,,				2504	0.3681				p.T147I		Atlas-SNP	.											.	RAET1L	21	.	0			c.C440T						PASS	.	A	ILE/THR	1375,3031		217,941,1045	284	245	258		440	-0.8	0	6	dbSNP_129	258	3839,4761		854,2131,1315	yes	missense	RAET1L	NM_130900.2	89	1071,3072,2360	AA,AG,GG		44.6395,31.2074,40.0892	benign	147/247	150342232	5214,7792	2203	4300	6503	SO:0001583	missense	154064	exon3			AGGAAGGTCTGTC	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.440C>T	6.37:g.150342232G>A	ENSP00000356310:p.Thr147Ile	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	391	199	0.508951	NM_130900	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	739	0.3383699633699634	153	0.31097560975609756	122	0.3370165745856354	125	0.21853146853146854	339	0.4472295514511873	N	0.003	-2.509455	0.00153	0.312074	0.446395	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.00717	5.79;5.79	1.91	-0.819	0.10829	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00144	0.0004	N	0.04203	-0.255	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.17806	-1.0357	8	0.27082	T	0.32	.	2.1695	0.03846	0.4177:0.0:0.3358:0.2465	.	147	Q5VY80	RET1L_HUMAN	I	147	ENSP00000356310:T147I;ENSP00000286380:T147I	ENSP00000286380:T147I	T	-	2	0	RAET1L	150383925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.278000	0.02809	-0.646000	0.05452	-1.305000	0.01319	ACC	G|0.611;A|0.389	0.389	strong		0.502	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		A	150342232	G	A	150342232	3	1	22	1	0	0	0	0	1	0	0	0	13001	1261	44	2	307	2	RAET1L	6	150342232	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57023	150342232	20772835	3979	9087										
RAET1L	154064	hgsc.bcm.edu	37	chr6	150346532	150346532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccagctcaccgtctcgccTagcccgggaccagccgaaca	9	19	2	0	rs1543547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:150346532T>C	ENST00000367341.1	-	1	75	c.76A>G	c.(76-78)Agg>Ggg	p.R26G	RAET1L_ENST00000286380.2_Missense_Mutation_p.R26G			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	26			R -> G (in dbSNP:rs1543547).		antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CCGTCTCGCCTAGCCCGGGAC	0.647													C|||	2029	0.405152	0.4902	0.4035	5008	,	,		15138	0.245		0.4523	False		,,,				2504	0.408				p.R26G		Atlas-SNP	.											.	RAET1L	21	.	0			c.A76G						PASS	.	C	GLY/ARG	2088,2318	585.5+/-386.3	496,1096,611	43	45	44		76	0.4	0	6	dbSNP_88	44	3871,4729	592.4+/-393.0	874,2123,1303	no	missense	RAET1L	NM_130900.2	125	1370,3219,1914	CC,CT,TT		45.0116,47.3899,45.8173	benign	26/247	150346532	5959,7047	2203	4300	6503	SO:0001583	missense	154064	exon1			CTCGCCTAGCCCG	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.76A>G	6.37:g.150346532T>C	ENSP00000356310:p.Arg26Gly	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	124	57	0.459677	NM_130900	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	873	0.39972527472527475	239	0.48577235772357724	166	0.4585635359116022	122	0.21328671328671328	346	0.45646437994722955	c	0.004	-2.352112	0.00217	0.473899	0.450116	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.00730	5.77;5.77	0.428	0.428	0.16499	.	.	.	.	.	T	0.00109	0.0003	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04509	-1.0946	7	0.23302	T	0.38	.	.	.	.	rs1543547;rs17431364;rs61168803	26	Q5VY80	RET1L_HUMAN	G	26	ENSP00000356310:R26G;ENSP00000286380:R26G	ENSP00000286380:R26G	R	-	1	2	RAET1L	150388225	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.048000	0.03517	-0.417000	0.07461	-0.971000	0.02607	AGG	C|0.440;N|0.000	0.440	strong		0.647	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		C	150346532	T	C	150346532	3	2	22	1	0	0	0	0	1	0	0	0	13001	1521	53	3	679	3	RAET1L	6	150346532	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4300	150346532	20768535	3980	9088										
AKAP12	9590	hgsc.bcm.edu	37	chr6	151672285	151672285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatctgcttcagtgacagAacctcttgaacaagtagaag	9	8	3	4	rs13212161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:151672285A>G	ENST00000253332.1	+	3	2948	c.2759A>G	c.(2758-2760)gAa>gGa	p.E920G	AKAP12_ENST00000402676.2_Missense_Mutation_p.E920G|AKAP12_ENST00000359755.5_Missense_Mutation_p.E815G|AKAP12_ENST00000354675.6_Missense_Mutation_p.E822G			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	920			E -> G (in dbSNP:rs13212161). {ECO:0000269|PubMed:17974005}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCAGTGACAGAACCTCTTGAA	0.478													A|||	484	0.0966454	0.1157	0.0778	5008	,	,		20022	0.0099		0.0895	False		,,,				2504	0.181				p.E920G	Melanoma(141;1616 1805 10049 24534 51979)	Atlas-SNP	.											.	AKAP12	170	.	0			c.A2759G						PASS	.	A	GLY/GLU,GLY/GLU	443,3963	205.2+/-227.1	18,407,1778	59	64	62		2759,2465	-1.9	0	6	dbSNP_121	62	796,7804	184.2+/-232.2	31,734,3535	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	98,98	49,1141,5313	GG,GA,AA		9.2558,10.0545,9.5264	probably-damaging,probably-damaging	920/1783,822/1685	151672285	1239,11767	2203	4300	6503	SO:0001583	missense	9590	exon4			TGACAGAACCTCT	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2759A>G	6.37:g.151672285A>G	ENSP00000253332:p.Glu920Gly	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	159	0.07280219780219781	54	0.10975609756097561	29	0.08011049723756906	8	0.013986013986013986	68	0.08970976253298153	A	12.91	2.078920	0.36662	0.100545	0.092558	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09817	2.94;2.94;2.95;2.95	5.27	-1.87	0.07737	.	0.697267	0.12510	N	0.462550	T	0.03178	0.0093	M	0.73598	2.24	0.58432	P	1.999999999946489E-6	B;B;B	0.21606	0.058;0.058;0.034	B;B;B	0.18561	0.022;0.022;0.01	T	0.37842	-0.9688	9	0.27785	T	0.31	.	1.9513	0.03367	0.4458:0.1278:0.3027:0.1237	rs13212161;rs52810987;rs59507175;rs13212161	815;822;920	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	G	920;920;822;815	ENSP00000384537:E920G;ENSP00000253332:E920G;ENSP00000346702:E822G;ENSP00000352794:E815G	ENSP00000253332:E920G	E	+	2	0	AKAP12	151713978	0.667000	0.27484	0.000000	0.03702	0.292000	0.27327	1.177000	0.31969	-0.215000	0.10063	0.379000	0.24179	GAA	A|0.908;G|0.092	0.092	strong		0.478	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151672285	A	G	151672285	3	3	22	1	0	0	0	0	1	0	0	0	448	246	9	2	2798	2	AKAP12	6	151672285	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1325753	151672285	19442782	3981	9089										
AKAP12	9590	hgsc.bcm.edu	37	chr6	151673589	151673589	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagccaacccatgtgaatGaagagaagcttgagcacgaa	11	9	0	5	rs12201388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:151673589G>A	ENST00000253332.1	+	3	4252	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	AKAP12_ENST00000402676.2_Missense_Mutation_p.E1355K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1250K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1257K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1355			E -> K (in dbSNP:rs12201388). {ECO:0000269|PubMed:17974005}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCATGTGAATGAAGAGAAGCT	0.502													G|||	526	0.105032	0.149	0.0821	5008	,	,		22107	0.0099		0.0905	False		,,,				2504	0.1748				p.E1355K	Melanoma(141;1616 1805 10049 24534 51979)	Atlas-SNP	.											.	AKAP12	170	.	0			c.G4063A						PASS	.	G	LYS/GLU,LYS/GLU	623,3783	268.9+/-268.7	47,529,1627	95	83	87		4063,3769	3.3	0	6	dbSNP_120	87	774,7826	180.0+/-229.1	31,712,3557	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	56,56	78,1241,5184	AA,AG,GG		9.0,14.1398,10.7412	probably-damaging,probably-damaging	1355/1783,1257/1685	151673589	1397,11609	2203	4300	6503	SO:0001583	missense	9590	exon4			GTGAATGAAGAGA	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4063G>A	6.37:g.151673589G>A	ENSP00000253332:p.Glu1355Lys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	103	40	0.38835	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	165	0.07554945054945054	61	0.12398373983739837	29	0.08011049723756906	8	0.013986013986013986	67	0.08839050131926121	G	17.70	3.454013	0.63290	0.141398	0.09	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12039	2.72;2.72;2.76;2.76	4.21	3.33	0.38152	.	0.252728	0.20854	N	0.084466	T	0.04092	0.0114	L	0.34521	1.04	0.80722	P	0.0	B;B;B	0.33044	0.395;0.395;0.275	B;B;B	0.30105	0.111;0.111;0.051	T	0.34950	-0.9808	9	0.25106	T	0.35	.	11.7204	0.51678	0.0942:0.0:0.9058:0.0	rs12201388;rs52829259;rs56832525;rs12201388	1250;1257;1355	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1355;1355;1257;1250	ENSP00000384537:E1355K;ENSP00000253332:E1355K;ENSP00000346702:E1257K;ENSP00000352794:E1250K	ENSP00000253332:E1355K	E	+	1	0	AKAP12	151715282	0.506000	0.26139	0.027000	0.17364	0.011000	0.07611	1.413000	0.34725	2.348000	0.79779	0.557000	0.71058	GAA	G|0.902;A|0.098	0.098	strong		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151673589	G	A	151673589	3	1	22	1	0	0	0	0	1	0	0	0	448	1291	45	2	4102	2	AKAP12	6	151673589	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1304	151673589	19441478	3982	9090										
AKAP12	9590	hgsc.bcm.edu	37	chr6	151674270	151674270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttacagacacaagctcacGtgataaaagctgacagccag	9	10	1	3	rs34713284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:151674270G>A	ENST00000253332.1	+	3	4933	c.4744G>A	c.(4744-4746)Gtg>Atg	p.V1582M	AKAP12_ENST00000359755.5_Missense_Mutation_p.V1477M|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1484M|AKAP12_ENST00000402676.2_Missense_Mutation_p.V1582M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1582				V -> M (in Ref. 4; CAH18338 and 7; AAA35931). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACAAGCTCACGTGATAAAAGC	0.483													G|||	395	0.0788738	0.0537	0.0764	5008	,	,		22475	0.0099		0.0895	False		,,,				2504	0.1748				p.V1582M	Melanoma(141;1616 1805 10049 24534 51979)	Atlas-SNP	.											.	AKAP12	170	.	0			c.G4744A						PASS	.	G	MET/VAL,MET/VAL	225,4181	136.5+/-172.5	1,223,1979	86	86	86		4744,4450	-5.1	0	6	dbSNP_126	86	773,7827	183.7+/-231.9	31,711,3558	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	21,21	32,934,5537	AA,AG,GG		8.9884,5.1067,7.6734	benign,benign	1582/1783,1484/1685	151674270	998,12008	2203	4300	6503	SO:0001583	missense	9590	exon4			GCTCACGTGATAA	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4744G>A	6.37:g.151674270G>A	ENSP00000253332:p.Val1582Met	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	84	35	0.416667	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	133	0.060897435897435896	30	0.06097560975609756	28	0.07734806629834254	8	0.013986013986013986	67	0.08839050131926121	G	8.712	0.912287	0.17907	0.051067	0.089884	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08634	3.07;3.07;3.09;3.09	5.01	-5.13	0.02884	.	3.546040	0.01076	N	0.004913	T	0.01287	0.0042	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.17465	0.021;0.021;0.022	B;B;B	0.12156	0.007;0.007;0.003	T	0.44620	-0.9316	9	0.46703	T	0.11	.	2.9664	0.05909	0.1834:0.217:0.4193:0.1803	rs34713284;rs61748677	1477;1484;1582	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	1582;1582;1484;1477	ENSP00000384537:V1582M;ENSP00000253332:V1582M;ENSP00000346702:V1484M;ENSP00000352794:V1477M	ENSP00000253332:V1582M	V	+	1	0	AKAP12	151715963	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.048000	0.03517	-0.603000	0.05767	-2.616000	0.00158	GTG	G|0.924;A|0.076	0.076	strong		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151674270	G	A	151674270	3	1	22	1	0	0	0	0	1	0	0	0	448	1145	40	1	4783	1	AKAP12	6	151674270	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	681	151674270	19440797	3983	9091										
RMND1	55005	hgsc.bcm.edu	37	chr6	151766822	151766822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgacgtattgtcagtgtgCtgcatgttgtattttcaaat	9	5	2	1	rs11550103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:151766822C>A	ENST00000367303.4	-	2	247	c.125G>T	c.(124-126)aGc>aTc	p.S42I	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	42			S -> I (in dbSNP:rs11550103).		translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGTCAGTGTGCTGCATGTTGT	0.373													C|||	362	0.0722843	0.0454	0.0764	5008	,	,		17906	0.0159		0.1193	False		,,,				2504	0.1155				p.S42I		Atlas-SNP	.											RMND1,lymph_node,lymphoid_neoplasm,0,1	RMND1	32	1	0			c.G125T						PASS	.	C	ILE/SER	254,4152	146.1+/-180.8	7,240,1956	118	108	112		125	-3.4	0	6	dbSNP_120	112	1083,7517	227.2+/-262.7	62,959,3279	no	missense	RMND1	NM_017909.2	142	69,1199,5235	AA,AC,CC		12.593,5.7649,10.2799	benign	42/450	151766822	1337,11669	2203	4300	6503	SO:0001583	missense	55005	exon2			AGTGTGCTGCATG	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.125G>T	6.37:g.151766822C>A	ENSP00000356272:p.Ser42Ile	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_017909	A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	CCDS5232.1	167	0.07646520146520147	28	0.056910569105691054	34	0.09392265193370165	10	0.017482517482517484	95	0.12532981530343007	C	10.21	1.288088	0.23478	0.057649	0.12593	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.46	-3.36	0.04913	.	1.251530	0.05252	N	0.514092	T	0.06416	0.0165	N	0.08118	0	0.80722	P	0.0	B;B	0.16396	0.017;0.0	B;B	0.16289	0.015;0.001	T	0.22906	-1.0203	9	0.34782	T	0.22	1.0502	2.8012	0.05415	0.1159:0.2957:0.1144:0.474	rs11550103;rs52812057;rs11550103	42;42	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	42	ENSP00000356272:S42I	ENSP00000356272:S42I	S	-	2	0	RMND1	151808515	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.509000	0.06336	-0.325000	0.08577	0.563000	0.77884	AGC	C|0.912;A|0.088	0.088	strong		0.373	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		A	151766822	C	A	151766822	3	1	22	1	0	0	0	0	1	0	0	0	13396	797	28	4	1268	4	RMND1	6	151766822	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92552	151766822	19348245	3984	9092										
C6orf211	79624	hgsc.bcm.edu	37	chr6	151789868	151789868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggatgtccaagtgtgggGctgactgggaagagtatatt	16	4	0	2	rs35972078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:151789868G>A	ENST00000367294.3	+	5	1208	c.949G>A	c.(949-951)Gct>Act	p.A317T	C6orf211_ENST00000545879.1_Missense_Mutation_p.A198T	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	317			A -> T (in dbSNP:rs35972078).							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)		CAAGTGTGGGGCTGACTGGGA	0.378													G|||	396	0.0790735	0.0658	0.0778	5008	,	,		18970	0.0159		0.1183	False		,,,				2504	0.1227				p.A317T		Atlas-SNP	.											C6orf211,NS,carcinoma,0,1	C6orf211	30	1	0			c.G949A						PASS	.	G	THR/ALA	320,4086	172.7+/-202.6	5,310,1888	85	87	86		949	3	0.7	6	dbSNP_126	86	1076,7524	225.5+/-261.6	63,950,3287	yes	missense	C6orf211	NM_024573.1	58	68,1260,5175	AA,AG,GG		12.5116,7.2628,10.7335	benign	317/442	151789868	1396,11610	2203	4300	6503	SO:0001583	missense	79624	exon5			TGTGGGGCTGACT	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.949G>A	6.37:g.151789868G>A	ENSP00000356263:p.Ala317Thr	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	111	44	0.396396	NM_024573	Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	168	0.07692307692307693	30	0.06097560975609756	33	0.09116022099447514	10	0.017482517482517484	95	0.12532981530343007	G	5.785	0.329209	0.10956	0.072628	0.125116	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.07216	3.21;3.21	6.16	3.03	0.35002	Domain of unknown function DUF89 (2);	1.279400	0.05047	N	0.477484	T	0.01558	0.0050	N	0.13168	0.305	0.58432	P	6.999999999979245E-6	B	0.06786	0.001	B	0.09377	0.004	T	0.42832	-0.9428	9	0.18276	T	0.48	.	7.1424	0.25564	0.2135:0.1503:0.6361:0.0	rs35972078	317	Q9H993	CF211_HUMAN	T	317;198	ENSP00000356263:A317T;ENSP00000444121:A198T	ENSP00000356263:A317T	A	+	1	0	C6orf211	151831561	0.942000	0.31987	0.736000	0.30914	0.262000	0.26303	1.691000	0.37721	0.908000	0.36671	0.650000	0.86243	GCT	G|0.904;A|0.096	0.096	strong		0.378	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		A	151789868	G	A	151789868	3	1	22	1	0	0	0	0	1	0	0	0	2354	1203	42	2	967	2	C6orf211	6	151789868	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23046	151789868	19325199	3985	9093										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152660451	152660451	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcacacatggagcaaagGagatctaggtaggtccttgc	13	8	2	1	rs71575926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:152660451G>A	ENST00000367255.5	-	75	12877	c.12276C>T	c.(12274-12276)ctC>ctT	p.L4092L	SYNE1_ENST00000341594.5_Silent_p.L3957L|SYNE1_ENST00000448038.1_Silent_p.L4021L|SYNE1_ENST00000423061.1_Silent_p.L4021L|SYNE1_ENST00000265368.4_Silent_p.L4092L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAGCAAAGGAGATCTAGGT	0.413										HNSCC(10;0.0054)			G|||	367	0.0732827	0.0817	0.072	5008	,	,		19444	0.0258		0.1471	False		,,,				2504	0.0358				p.L4092L		Atlas-SNP	.											.	SYNE1	3227	.	0			c.C12276T						PASS	.	G	,	380,4026	192.6+/-218.0	22,336,1845	154	140	145		12063,12276	-2.6	1	6	dbSNP_130	145	1131,7469	233.3+/-266.6	77,977,3246	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	99,1313,5091	AA,AG,GG		13.1512,8.6246,11.6177	,	4021/8750,4092/8798	152660451	1511,11495	2203	4300	6503	SO:0001819	synonymous_variant	23345	exon75			GCAAAGGAGATCT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12276C>T	6.37:g.152660451G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	63	41	0.650794	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			G|0.895;A|0.105	0.105	strong		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152660451	G	A	152660451	2	1	22	1	0	0	0	0	0	0	0	1	15442	1161	41	2		2	SYNE1	6	152660451	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	870583	152660451	18454616	3986	9094										
OPRM1	4988	hgsc.bcm.edu	37	chr6	154428666	154428666	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgagctacaatgcagggCagtctccatttcccttccca	7	15	1	1	rs677830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:154428666C>T	ENST00000330432.7	+	4	1401				OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.Q411*|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000524163.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	caatgcagggcagtctccatt	0.408													C|||	751	0.14996	0.143	0.1859	5008	,	,		19562	0.0734		0.2266	False		,,,				2504	0.1339				p.Q411X		Atlas-SNP	.											.	OPRM1	241	.	0			c.C1231T						PASS	.						136	128	131					6																	154428666		692	1591	2283	SO:0001627	intron_variant	4988	exon4			GCAGGGCAGTCTC	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1165-11152C>T	6.37:g.154428666C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_001145286	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Nonsense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	363	0.1662087912087912	85	0.17276422764227642	65	0.17955801104972377	44	0.07692307692307693	169	0.22295514511873352	C	8.345	0.829563	0.16749	.	.	ENSG00000112038	ENST00000419506	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	rs677830;rs1067691;rs59977603;rs677830	.	.	.	X	411	.	ENSP00000403549:Q411X	Q	+	1	0	OPRM1	154470358	0.005000	0.15991	0.024000	0.17045	0.025000	0.11179	-0.687000	0.05156	0.300000	0.22699	0.305000	0.20034	CAG	C|0.837;T|0.163	0.163	strong		0.408	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		T	154428666	C	T	154428666	1	4	22	0	1	0	0	0	0	0	0	0	10887	711	25	2		2	OPRM1	6	154428666	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1768215	154428666	16686401	3987	9095										
TIAM2	26230	hgsc.bcm.edu	37	chr6	155486535	155486535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaggagaagagaccttctAtaactcaggtgagcttttca	10	8	3	3	rs62621836	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:155486535A>G	ENST00000461783.3	+	11	3626	c.2353A>G	c.(2353-2355)Ata>Gta	p.I785V	TIAM2_ENST00000456144.1_Missense_Mutation_p.I785V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I785V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I785V|TIAM2_ENST00000528391.2_Missense_Mutation_p.I97V|TIAM2_ENST00000367174.2_Missense_Mutation_p.I137V|TIAM2_ENST00000456877.2_Missense_Mutation_p.I97V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I785V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	785					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGACCTTCTATAACTCAGGT	0.448													A|||	100	0.0199681	0.0719	0.0072	5008	,	,		19834	0.0		0.0	False		,,,				2504	0.0				p.I785V		Atlas-SNP	.											.	TIAM2	161	.	0			c.A2353G						PASS	.	A	VAL/ILE	301,4105	165.4+/-196.9	7,287,1909	68	64	65		2353	-4.4	0	6	dbSNP_129	65	2,8598	1.2+/-3.3	0,2,4298	yes	missense	TIAM2	NM_012454.3	29	7,289,6207	GG,GA,AA		0.0233,6.8316,2.3297	benign	785/1702	155486535	303,12703	2203	4300	6503	SO:0001583	missense	26230	exon8			CCTTCTATAACTC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2353A>G	6.37:g.155486535A>G	ENSP00000437188:p.Ile785Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	114	59	0.517544	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	A	10.77	1.443893	0.25987	0.068316	2.33E-4	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.06142	3.48;3.39;3.44;3.48;3.4;3.57;3.44;3.34;3.4	5.01	-4.42	0.03579	.	0.494314	0.23646	N	0.045965	T	0.01558	0.0050	M	0.61703	1.905	0.20196	N	0.999928	B;B;B;B	0.10296	0.0;0.003;0.003;0.002	B;B;B;B	0.12837	0.008;0.006;0.003;0.003	T	0.48670	-0.9015	10	0.17832	T	0.49	.	6.285	0.21029	0.3957:0.2475:0.3568:0.0	rs62621836	97;785;785;785	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	785;1031;785;785;785;137;785;785;97;97	ENSP00000437188:I785V;ENSP00000434901:I785V;ENSP00000407746:I785V;ENSP00000327315:I785V;ENSP00000356142:I137V;ENSP00000353528:I785V;ENSP00000433348:I785V;ENSP00000407183:I97V;ENSP00000435335:I97V	ENSP00000327315:I785V	I	+	1	0	TIAM2	155528227	0.000000	0.05858	0.010000	0.14722	0.881000	0.50899	-0.215000	0.09279	-1.006000	0.03412	-0.274000	0.10170	ATA	A|0.979;G|0.021	0.021	strong		0.448	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		G	155486535	A	G	155486535	3	3	22	1	0	0	0	0	1	0	0	0	15888	449	16	2	2375	2	TIAM2	6	155486535	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1057869	155486535	15628532	3988	9096										
ARID1B	57492	hgsc.bcm.edu	37	chr6	157099402	157099403	+	In_Frame_Ins	INS	-	-	CAGCAG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcagctaaaccagttcINScagcagcagcagcagcagca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:157099402_157099403insCAGCAG	ENST00000350026.5	+	1	340_341	c.339_340insCAGCAG	c.(340-342)cag>CAGCAGcag	p.114_114Q>QQQ	RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_In_Frame_Ins_p.114_114Q>QQQ|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000275248.4_In_Frame_Ins_p.56_56Q>QQQ|ARID1B_ENST00000346085.5_In_Frame_Ins_p.114_114Q>QQQ|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	114	Gln-rich.|Poly-Gln.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TAAACCAGTTCcagcagcagca	0.639																																					p.F113delinsFQQ		Atlas-Indel	.											.	ARID1B	320	.	0			c.339_340insCAGCAG						PASS	.																																			SO:0001652	inframe_insertion	57492	exon1			.	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.352_357dupCAGCAG	6.37:g.157099403_157099408dupCAGCAG	ENSP00000055163:p.GlnGln130dup	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	ENST00000350026.5	37	CCDS5251.2																																																																																			.	.	none		0.639	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		CAGCAG	157099403	-	CAGCAG	157099402	7	5	22	1	0	1	1	0	0	0	0	0	914	854	30	0	341	0	ARID1B	6	157099402	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1612867	157099402	14015665	3989	9097										
ARID1B	57492	hgsc.bcm.edu	37	chr6	157505478	157505478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtacctgtttgcctttgaGtgcaagatcgaacgtgggga	13	8	0	2	rs61745451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:157505478G>A	ENST00000350026.5	+	12	3421	c.3420G>A	c.(3418-3420)gaG>gaA	p.E1140E	ARID1B_ENST00000367148.1_Silent_p.E1193E|ARID1B_ENST00000275248.4_Silent_p.E1135E|ARID1B_ENST00000346085.5_Silent_p.E1153E	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1140	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTGCCTTTGAGTGCAAGATCG	0.567													G|||	68	0.0135783	0.0492	0.0014	5008	,	,		18188	0.0		0.002	False		,,,				2504	0.0				p.E1153E		Atlas-SNP	.											.	ARID1B	320	.	0			c.G3459A						PASS	.	G	,	141,4265	99.8+/-138.5	1,139,2063	80	77	78		3420,3459	5.9	1	6	dbSNP_129	78	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	1,142,6356	AA,AG,GG		0.0349,3.2002,1.1079	,	1140/2237,1153/2250	157505478	144,12854	2203	4296	6499	SO:0001819	synonymous_variant	57492	exon13			CTTTGAGTGCAAG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3420G>A	6.37:g.157505478G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	162	75	0.462963	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																			G|0.989;A|0.011	0.011	strong		0.567	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157505478	G	A	157505478	2	1	22	1	0	0	0	0	0	0	0	1	914	1020	36	2		2	ARID1B	6	157505478	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	406076	157505478	13609589	3990	9098										
SNX9	51429	hgsc.bcm.edu	37	chr6	158330765	158330765	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtggtagcagatcccagGaaaggctccaaaatgtatgg	13	7	0	1	rs3211067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:158330765G>A	ENST00000392185.3	+	8	945	c.774G>A	c.(772-774)agG>agA	p.R258R		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	258	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAGATCCCAGGAAAGGCTCCA	0.408													G|||	1028	0.205272	0.2239	0.1383	5008	,	,		20959	0.1369		0.2485	False		,,,				2504	0.2536				p.R258R		Atlas-SNP	.											.	SNX9	43	.	0			c.G774A						PASS	.	G		966,3440	367.1+/-318.1	107,752,1344	170	166	167		774	2.8	1	6	dbSNP_105	167	2020,6580	352.5+/-328.7	248,1524,2528	no	coding-synonymous	SNX9	NM_016224.3		355,2276,3872	AA,AG,GG		23.4884,21.9246,22.9586		258/596	158330765	2986,10020	2203	4300	6503	SO:0001819	synonymous_variant	51429	exon8			TCCCAGGAAAGGC	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.774G>A	6.37:g.158330765G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	138	69	0.5	NM_016224	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	CCDS5253.1																																																																																			G|0.778;A|0.222	0.222	strong		0.408	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			A	158330765	G	A	158330765	2	1	22	1	0	0	0	0	0	0	0	1	14909	1165	41	2		2	SNX9	6	158330765	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	825287	158330765	12784302	3991	9099										
SYTL3	94120	hgsc.bcm.edu	37	chr6	159184507	159184507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggccctctttggaatgaaCgaccgcttgcttggaggaac	12	11	1	1	rs2291386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159184507C>T	ENST00000297239.9	+	16	1883	c.1689C>T	c.(1687-1689)aaC>aaT	p.N563N	SYTL3_ENST00000367081.3_Silent_p.N289N|MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Silent_p.N495N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	563	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTGGAATGAACGACCGCTTGC	0.478													C|||	547	0.109225	0.3139	0.0346	5008	,	,		20174	0.0268		0.0427	False		,,,				2504	0.0389				p.N563N		Atlas-SNP	.											.	SYTL3	49	.	0			c.C1689T						PASS	.	C	,,,	1092,3314	395.6+/-329.7	152,788,1263	94	92	93		1485,1689,1689,1485	-5.2	0.8	6	dbSNP_100	93	398,8202	127.0+/-185.4	9,380,3911	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	,,,	161,1168,5174	TT,TC,CC		4.6279,24.7844,11.4563	,,,	495/543,563/611,563/611,495/543	159184507	1490,11516	2203	4300	6503	SO:0001819	synonymous_variant	94120	exon18			AATGAACGACCGC	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1689C>T	6.37:g.159184507C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	81	44	0.54321	NM_001242384	Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	CCDS56458.1																																																																																			C|0.879;T|0.121	0.121	strong		0.478	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			T	159184507	C	T	159184507	2	4	22	1	0	0	0	0	0	0	0	1	15481	535	19	1		1	SYTL3	6	159184507	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	853742	159184507	11930560	3992	9100										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159647584	159647584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgctgcatcttgggatgcGctaccagagactgaggggaa	15	9	1	2	rs12110595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159647584G>A	ENST00000297267.9	+	9	1352	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	FNDC1_ENST00000340366.6_Silent_p.A384A|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	384	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTTGGGATGCGCTACCAGAGA	0.473													G|||	264	0.0527157	0.1876	0.0216	5008	,	,		20701	0.001		0.0	False		,,,				2504	0.0				p.A384A		Atlas-SNP	.											.	FNDC1	250	.	0			c.G1152A						PASS	.	G		716,3112		66,584,1264	97	94	95		1152	-10.6	0	6	dbSNP_120	95	8,8254		0,8,4123	no	coding-synonymous	FNDC1	NM_032532.2		66,592,5387	AA,AG,GG		0.0968,18.7043,5.9884		384/1895	159647584	724,11366	1914	4131	6045	SO:0001819	synonymous_variant	84624	exon9			GGATGCGCTACCA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1152G>A	6.37:g.159647584G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	50	17	0.34	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	111	0.050824175824175824	103	0.20934959349593496	8	0.022099447513812154	0	0.0	0	0.0	G	7.656	0.683920	0.14907	0.187043	9.68E-4	ENSG00000164694	ENST00000329629	T	0.03181	4.02	5.29	-10.6	0.00265	.	0.279587	0.34777	N	0.003696	T	0.00845	0.0028	.	.	.	0.09310	P	0.999999999722547	.	.	.	.	.	.	T	0.17899	-1.0354	6	0.40728	T	0.16	-5.1754	3.7308	0.08492	0.176:0.081:0.3814:0.3616	rs12110595;rs57583348;rs12110595	.	.	.	T	343	ENSP00000333297:A343T	ENSP00000333297:A343T	A	+	1	0	FNDC1	159567572	0.002000	0.14202	0.028000	0.17463	0.773000	0.43773	-1.392000	0.02523	-2.325000	0.00638	-1.283000	0.01379	GCT	G|0.929;A|0.071	0.071	strong		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159647584	G	A	159647584	2	1	22	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159647584	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	463077	159647584	11467483	3993	9101										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159650978	159650978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttttcaaaatccgggccAcaaacaggagaggcctggga	11	10	2	1	rs509648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159650978A>G	ENST00000297267.9	+	10	1512	c.1312A>G	c.(1312-1314)Aca>Gca	p.T438A	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	438	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> A (in dbSNP:rs509648). {ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATCCGGGCCACAAACAGGAG	0.507													G|||	2547	0.508586	0.7194	0.3458	5008	,	,		16618	0.7232		0.2276	False		,,,				2504	0.407				p.T438A		Atlas-SNP	.											.	FNDC1	250	.	0			c.A1312G						PASS	.	G	ALA/THR	2489,1467		791,907,280	161	177	172		1312	0.9	0.7	6	dbSNP_83	172	1889,6415		202,1485,2465	yes	missense	FNDC1	NM_032532.2	58	993,2392,2745	GG,GA,AA		22.7481,37.0829,35.7096	benign	438/1895	159650978	4378,7882	1978	4152	6130	SO:0001583	missense	84624	exon10			CGGGCCACAAACA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1312A>G	6.37:g.159650978A>G	ENSP00000297267:p.Thr438Ala	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	140	74	0.528571	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	1039	0.4757326007326007	344	0.6991869918699187	111	0.30662983425414364	421	0.736013986013986	163	0.21503957783641162	G	2.627	-0.287136	0.05605	0.629171	0.227481	ENSG00000164694	ENST00000297267	T	0.56275	0.47	5.5	0.856	0.19019	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.173617	0.50627	N	0.000110	T	0.04363	0.0120	N	0.00583	-1.355	0.09310	P	0.9999999999999734	B	0.02656	0.0	B	0.06405	0.002	T	0.34054	-0.9844	9	0.11485	T	0.65	-2.9046	5.6533	0.17629	0.165:0.0:0.4552:0.3797	rs509648;rs57028228;rs509648	438	Q4ZHG4	FNDC1_HUMAN	A	438	ENSP00000297267:T438A	ENSP00000297267:T438A	T	+	1	0	FNDC1	159570966	0.999000	0.42202	0.659000	0.29680	0.862000	0.49288	2.806000	0.47947	-0.411000	0.07530	-0.825000	0.03093	ACA	A|0.529;G|0.471	0.471	strong		0.507	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		G	159650978	A	G	159650978	3	3	22	1	0	0	0	0	1	0	0	0	5968	159	6	2	1350	2	FNDC1	6	159650978	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3394	159650978	11464089	3994	9102										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159654408	159654408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcaggatgttcaacagaGcacagacgcggacacggagg	15	10	2	2	rs73799344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159654408G>A	ENST00000297267.9	+	11	3064	c.2864G>A	c.(2863-2865)aGc>aAc	p.S955N	FNDC1_ENST00000340366.6_Missense_Mutation_p.S892N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	955					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTTCAACAGAGCACAGACGCG	0.617													G|||	259	0.0517173	0.1846	0.0216	5008	,	,		18211	0.0		0.0	False		,,,				2504	0.0				p.S955N		Atlas-SNP	.											.	FNDC1	250	.	0			c.G2864A						PASS	.	G	ASN/SER	784,3552		68,648,1452	57	68	64		2864	3.8	0.1	6	dbSNP_130	64	8,8520		0,8,4256	yes	missense	FNDC1	NM_032532.2	46	68,656,5708	AA,AG,GG		0.0938,18.0812,6.1567	benign	955/1895	159654408	792,12072	2168	4264	6432	SO:0001583	missense	84624	exon11			AACAGAGCACAGA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2864G>A	6.37:g.159654408G>A	ENSP00000297267:p.Ser955Asn	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	107	0.04899267399267399	99	0.20121951219512196	8	0.022099447513812154	0	0.0	0	0.0	G	16.37	3.104157	0.56291	0.180812	9.38E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.10005	2.92;3.77	3.81	3.81	0.43845	.	0.352689	0.24945	N	0.034358	T	0.06735	0.0172	L	0.29908	0.895	0.58432	P	1.999999999946489E-6	D;P	0.57257	0.979;0.734	P;B	0.56563	0.801;0.398	T	0.27839	-1.0062	9	0.13108	T	0.6	-19.0686	11.4852	0.50350	0.0:0.0:1.0:0.0	.	892;955	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	N	955;892	ENSP00000297267:S955N;ENSP00000342460:S892N	ENSP00000297267:S955N	S	+	2	0	FNDC1	159574398	0.523000	0.26274	0.140000	0.22221	0.635000	0.38103	1.701000	0.37825	2.423000	0.82170	0.561000	0.74099	AGC	G|0.959;A|0.041	0.041	strong		0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159654408	G	A	159654408	3	1	22	1	0	0	0	0	1	0	0	0	5968	971	34	2	2906	2	FNDC1	6	159654408	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3430	159654408	11460659	3995	9103										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159654720	159654720	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcggacccttacacggcgaGctccagagggatgctcccca	11	16	0	1	rs115529940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159654720G>C	ENST00000297267.9	+	11	3376	c.3176G>C	c.(3175-3177)aGc>aCc	p.S1059T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S996T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1059					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TACACGGCGAGCTCCAGAGGG	0.701													G|||	62	0.0123802	0.0439	0.0058	5008	,	,		14068	0.0		0.0	False		,,,				2504	0.0				p.S1059T		Atlas-SNP	.											.	FNDC1	250	.	0			c.G3176C						PASS	.	G	THR/SER	102,3642		2,98,1772	9	12	11		3176	0.4	0.1	6	dbSNP_132	11	1,7791		0,1,3895	yes	missense	FNDC1	NM_032532.2	58	2,99,5667	CC,CG,GG		0.0128,2.7244,0.8929	benign	1059/1895	159654720	103,11433	1872	3896	5768	SO:0001583	missense	84624	exon11			CGGCGAGCTCCAG	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3176G>C	6.37:g.159654720G>C	ENSP00000297267:p.Ser1059Thr	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	9	0.2	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	25|25	0.011446886446886446|0.011446886446886446	23|23	0.046747967479674794|0.046747967479674794	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.73|12.73	2.026772|2.026772	0.35797|0.35797	0.027244|0.027244	1.28E-4|1.28E-4	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.09538	.|2.97;3.87	4.86|4.86	0.374|0.374	0.16183|0.16183	.|.	.|0.613338	.|0.15407	.|N	.|0.263994	T|T	0.01870|0.01870	0.0059|0.0059	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40731	.|0.728;0.608	.|B;B	.|0.36092	.|0.217;0.115	T|T	0.42548|0.42548	-0.9445|-0.9445	5|10	.|0.51188	.|T	.|0.08	-5.582|-5.582	2.6419|2.6419	0.04973|0.04973	0.3758:0.0:0.4119:0.2123|0.3758:0.0:0.4119:0.2123	.|.	.|996;1059	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	D|T	954|1059;996	.|ENSP00000297267:S1059T;ENSP00000342460:S996T	.|ENSP00000297267:S1059T	E|S	+|+	3|2	2|0	FNDC1|FNDC1	159574710|159574710	0.096000|0.096000	0.21769|0.21769	0.052000|0.052000	0.19188|0.19188	0.053000|0.053000	0.15095|0.15095	0.113000|0.113000	0.15499|0.15499	0.445000|0.445000	0.26639|0.26639	0.561000|0.561000	0.74099|0.74099	GAG|AGC	G|0.986;C|0.014	0.014	strong		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		C	159654720	G	C	159654720	3	2	22	1	0	0	0	0	1	0	0	0	5968	971	34	4	3218	4	FNDC1	6	159654720	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	312	159654720	11460347	3996	9104										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159672419	159672419	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttccaagtggacagcctGgatgaaatcatccccaatga	8	12	1	2	rs551392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159672419G>C	ENST00000297267.9	+	17	5120	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	FNDC1_ENST00000340366.6_Silent_p.L1577L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1640					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGACAGCCTGGATGAAATCA	0.532													G|||	1099	0.219449	0.1899	0.1772	5008	,	,		22374	0.3343		0.1382	False		,,,				2504	0.2546				p.L1640L		Atlas-SNP	.											.	FNDC1	250	.	0			c.G4920C						PASS	.	G		716,3384		53,610,1387	75	72	73		4920	3.7	1	6	dbSNP_83	73	1094,7302		78,938,3182	no	coding-synonymous	FNDC1	NM_032532.2		131,1548,4569	CC,CG,GG		13.03,17.4634,14.4846		1640/1895	159672419	1810,10686	2050	4198	6248	SO:0001819	synonymous_variant	84624	exon17			CAGCCTGGATGAA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4920G>C	6.37:g.159672419G>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	149	67	0.449664	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	475	0.2174908424908425	115	0.23373983739837398	59	0.16298342541436464	201	0.3513986013986014	100	0.13192612137203166	G	8.942	0.966161	0.18659	0.174634	0.1303	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.7	0.42460	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.15206	-1.0445	3	.	.	.	-18.2795	8.6871	0.34245	0.0739:0.0:0.603:0.3231	rs551392;rs3814445;rs61299761;rs551392	.	.	.	R	1536	.	.	G	+	1	0	FNDC1	159592409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.993000	0.49425	0.683000	0.31428	0.585000	0.79938	GGA	G|0.777;C|0.222	0.222	strong		0.532	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		C	159672419	G	C	159672419	2	2	22	1	0	0	0	0	0	0	0	1	5968	1335	47	4		4	FNDC1	6	159672419	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17699	159672419	11442648	3997	9105										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159672542	159672542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgtggactgggacaaagcCaccccaggagatgtggtcac	13	10	1	1	rs550443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:159672542C>T	ENST00000297267.9	+	17	5243	c.5043C>T	c.(5041-5043)gcC>gcT	p.A1681A	FNDC1_ENST00000340366.6_Silent_p.A1618A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1681	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGACAAAGCCACCCCAGGAG	0.527													C|||	1100	0.219649	0.1899	0.1772	5008	,	,		22776	0.3353		0.1382	False		,,,				2504	0.2546				p.A1681A		Atlas-SNP	.											.	FNDC1	250	.	0			c.C5043T						PASS	.	C		735,3337		54,627,1355	51	49	50		5043	0.6	0.4	6	dbSNP_83	50	1091,7281		78,935,3173	no	coding-synonymous	FNDC1	NM_032532.2		132,1562,4528	TT,TC,CC		13.0315,18.0501,14.6737		1681/1895	159672542	1826,10618	2036	4186	6222	SO:0001819	synonymous_variant	84624	exon17			CAAAGCCACCCCA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5043C>T	6.37:g.159672542C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	476	0.21794871794871795	115	0.23373983739837398	59	0.16298342541436464	202	0.3531468531468531	100	0.13192612137203166	C	9.638	1.138209	0.21123	0.180501	0.130315	ENSG00000164694	ENST00000329629	.	.	.	5.51	0.589	0.17452	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.09310	P	0.9999999799344	.	.	.	.	.	.	T	0.17623	-1.0363	3	.	.	.	-19.5874	4.8442	0.13505	0.1405:0.4502:0.0:0.4093	rs550443;rs3814447;rs59986709;rs550443	.	.	.	Y	1577	.	.	H	+	1	0	FNDC1	159592532	0.008000	0.16893	0.405000	0.26409	0.997000	0.91878	0.181000	0.16880	0.028000	0.15324	0.585000	0.79938	CAC	C|0.789;T|0.211	0.211	strong		0.527	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159672542	C	T	159672542	2	4	22	1	0	0	0	0	0	0	0	1	5968	581	21	2		2	FNDC1	6	159672542	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123	159672542	11442525	3998	9106										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160448324	160448324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggccagccccgggacggaCtgaagctggtgcgcaaggac	16	12	0	1	rs8191754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160448324C>G	ENST00000356956.1	+	6	902	c.754C>G	c.(754-756)Ctg>Gtg	p.L252V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	252			L -> V (in dbSNP:rs8191754). {ECO:0000269|Ref.5}.		insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCGGGACGGACTGAAGCTGGT	0.612													C|||	803	0.160343	0.1498	0.0533	5008	,	,		18426	0.2202		0.1481	False		,,,				2504	0.2014				p.L252V		Atlas-SNP	.											.	IGF2R	251	.	0			c.C754G						PASS	.	C	VAL/LEU	614,3792	262.2+/-264.8	37,540,1626	34	33	33		754	4.3	0.5	6	dbSNP_117	33	1126,7472	229.1+/-263.9	62,1002,3235	yes	missense	IGF2R	NM_000876.2	32	99,1542,4861	GG,GC,CC		13.0961,13.9355,13.3805	possibly-damaging	252/2492	160448324	1740,11264	2203	4299	6502	SO:0001583	missense	3482	exon6			GACGGACTGAAGC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.754C>G	6.37:g.160448324C>G	ENSP00000349437:p.Leu252Val	Somatic	227	1	0.00440529		WXS	Illumina HiSeq	Phase_I	226	125	0.553097	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	310	0.14194139194139194	58	0.11788617886178862	17	0.04696132596685083	113	0.19755244755244755	122	0.16094986807387862	C	16.39	3.110100	0.56398	0.139355	0.130961	ENSG00000197081	ENST00000356956	T	0.02301	4.35	5.22	4.34	0.51931	Mannose-6-phosphate receptor, binding (1);	0.066396	0.64402	D	0.000008	T	0.06188	0.0160	M	0.88842	2.985	0.20638	P	0.999879852	P	0.46142	0.873	P	0.54499	0.754	T	0.00247	-1.1881	9	0.59425	D	0.04	-10.0413	11.8459	0.52385	0.0:0.9188:0.0:0.0812	rs8191754;rs17847669;rs8191754	252	P11717	MPRI_HUMAN	V	252	ENSP00000349437:L252V	ENSP00000349437:L252V	L	+	1	2	IGF2R	160368314	0.989000	0.36119	0.548000	0.28192	0.525000	0.34531	2.893000	0.48633	2.577000	0.86979	0.655000	0.94253	CTG	C|0.862;G|0.138	0.138	strong		0.612	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160448324	C	G	160448324	3	3	22	1	0	0	0	0	1	0	0	0	7576	564	20	4	776	4	IGF2R	6	160448324	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	775782	160448324	10666743	3999	9107										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160453978	160453978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttccctgtttttaggttcAtcctatatttcagatggaaa	6	7	2	1	rs1570070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160453978A>G	ENST00000356956.1	+	9	1198	c.1050A>G	c.(1048-1050)tcA>tcG	p.S350S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	350					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTTAGGTTCATCCTATATTT	0.313													A|||	2123	0.423922	0.2405	0.3545	5008	,	,		20863	0.746		0.3489	False		,,,				2504	0.4663				p.S350S		Atlas-SNP	.											.	IGF2R	251	.	0			c.A1050G						PASS	.	A		1139,3265	378.0+/-322.7	132,875,1195	79	88	85		1050	-7.8	0	6	dbSNP_88	85	2790,5810	437.3+/-358.6	463,1864,1973	no	coding-synonymous	IGF2R	NM_000876.2		595,2739,3168	GG,GA,AA		32.4419,25.8629,30.2138		350/2492	160453978	3929,9075	2202	4300	6502	SO:0001819	synonymous_variant	3482	exon9			AGGTTCATCCTAT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1050A>G	6.37:g.160453978A>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	54	30	0.555556	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			A|0.643;G|0.357	0.357	strong		0.313	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160453978	A	G	160453978	2	3	22	1	0	0	0	0	0	0	0	1	7576	204	8	2		2	IGF2R	6	160453978	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5654	160453978	10661089	4000	9108										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160464289	160464289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaaggcaaggcacgaggGtgtcccgaggacgcggcagt	18	10	0	0	rs894817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160464289G>A	ENST00000356956.1	+	12	1738	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	530					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGCACGAGGGTGTCCCGAGG	0.493													G|||	2122	0.423722	0.2784	0.3516	5008	,	,		18930	0.748		0.3181	False		,,,				2504	0.4458				p.G530G		Atlas-SNP	.											.	IGF2R	251	.	0			c.G1590A						PASS	.	G		1232,3174	425.7+/-340.9	159,914,1130	137	127	130		1590	3.6	0.5	6	dbSNP_86	130	2632,5968	426.4+/-355.3	416,1800,2084	no	coding-synonymous	IGF2R	NM_000876.2		575,2714,3214	AA,AG,GG		30.6047,27.9619,29.7094		530/2492	160464289	3864,9142	2203	4300	6503	SO:0001819	synonymous_variant	3482	exon12			ACGAGGGTGTCCC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1590G>A	6.37:g.160464289G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			G|0.650;A|0.350	0.350	strong		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160464289	G	A	160464289	2	1	22	1	0	0	0	0	0	0	0	1	7576	1248	44	2		2	IGF2R	6	160464289	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10311	160464289	10650778	4001	9109										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160469542	160469542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggctgcaaccgatatgcAtcggcttgccagatgaagta	12	11	0	2	rs8191809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160469542A>G	ENST00000356956.1	+	18	2629	c.2481A>G	c.(2479-2481)gcA>gcG	p.A827A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	827					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACCGATATGCATCGGCTTGCC	0.493													A|||	48	0.00958466	0.0348	0.0029	5008	,	,		21284	0.0		0.0	False		,,,				2504	0.0				p.A827A		Atlas-SNP	.											.	IGF2R	251	.	0			c.A2481G						PASS	.	A		112,4294	85.8+/-124.5	0,112,2091	98	82	87		2481	-7.3	0	6	dbSNP_117	87	0,8600		0,0,4300	no	coding-synonymous	IGF2R	NM_000876.2		0,112,6391	GG,GA,AA		0.0,2.542,0.8611		827/2492	160469542	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	3482	exon18			ATATGCATCGGCT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2481A>G	6.37:g.160469542A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			A|0.988;G|0.012	0.012	strong		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160469542	A	G	160469542	2	3	22	1	0	0	0	0	0	0	0	1	7576	204	8	2		2	IGF2R	6	160469542	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5253	160469542	10645525	4002	9110										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160482929	160482929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaaccagcgcttctccaCcaggatcacgtttgagtgtg	12	11	2	1	rs8191844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160482929C>G	ENST00000356956.1	+	25	3699	c.3551C>G	c.(3550-3552)aCc>aGc	p.T1184S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1184			T -> S (in dbSNP:rs8191844). {ECO:0000269|Ref.5}.		insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGCTTCTCCACCAGGATCACG	0.522													C|||	40	0.00798722	0.0287	0.0029	5008	,	,		18416	0.0		0.0	False		,,,				2504	0.0				p.T1184S		Atlas-SNP	.											.	IGF2R	251	.	0			c.C3551G						PASS	.	C	SER/THR	127,4279	93.0+/-131.7	1,125,2077	159	148	152		3551	5.5	1	6	dbSNP_117	152	0,8600		0,0,4300	yes	missense	IGF2R	NM_000876.2	58	1,125,6377	GG,GC,CC		0.0,2.8824,0.9765	probably-damaging	1184/2492	160482929	127,12879	2203	4300	6503	SO:0001583	missense	3482	exon25			TCTCCACCAGGAT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3551C>G	6.37:g.160482929C>G	ENSP00000349437:p.Thr1184Ser	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	152	73	0.480263	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	C	23.0	4.365286	0.82463	0.028824	0.0	ENSG00000197081	ENST00000356956	T	0.04275	3.66	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	M	0.75615	2.305	0.52501	D	0.999957	D	0.89917	1.0	D	0.87578	0.998	T	0.01810	-1.1269	10	0.32370	T	0.25	-13.6676	17.5389	0.87841	0.0:1.0:0.0:0.0	rs8191844;rs52837912;rs8191844	1184	P11717	MPRI_HUMAN	S	1184	ENSP00000349437:T1184S	ENSP00000349437:T1184S	T	+	2	0	IGF2R	160402919	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.514000	0.67043	2.735000	0.93741	0.655000	0.94253	ACC	C|0.991;G|0.009	0.009	strong		0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160482929	C	G	160482929	3	3	22	1	0	0	0	0	1	0	0	0	7576	507	18	4	3649	4	IGF2R	6	160482929	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13387	160482929	10632138	4003	9111										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160517481	160517481	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtttgacagacggcgatctCgatgtcgtgtttgcctcttc	11	11	2	2	rs1803989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160517481C>T	ENST00000356956.1	+	45	6814	c.6666C>T	c.(6664-6666)ctC>ctT	p.L2222L	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2222					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACGGCGATCTCGATGTCGTGT	0.498													C|||	1149	0.229433	0.2564	0.2017	5008	,	,		22131	0.4216		0.0547	False		,,,				2504	0.1943				p.L2222L		Atlas-SNP	.											.	IGF2R	251	.	0			c.C6666T						PASS	.	C		1012,3394	376.3+/-322.0	133,746,1324	287	203	232		6666	-7.7	0.3	6	dbSNP_89	232	493,8107	143.3+/-199.3	15,463,3822	no	coding-synonymous	IGF2R	NM_000876.2		148,1209,5146	TT,TC,CC		5.7326,22.9687,11.5716		2222/2492	160517481	1505,11501	2203	4300	6503	SO:0001819	synonymous_variant	3482	exon45			CGATCTCGATGTC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6666C>T	6.37:g.160517481C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	171	75	0.438596	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			C|0.839;T|0.161	0.161	strong		0.498	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160517481	C	T	160517481	2	4	22	1	0	0	0	0	0	0	0	1	7576	871	31	1		1	IGF2R	6	160517481	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34552	160517481	10597586	4004	9112										
SLC22A1	6580	hgsc.bcm.edu	37	chr6	160557643	160557643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagacctgttccgcacgcCgcgcctgaggaagcgcacct	12	16	0	2	rs2282143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160557643C>T	ENST00000366963.4	+	6	1169	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	SLC22A1_ENST00000324965.4_Missense_Mutation_p.P341L|SLC22A1_ENST00000457470.2_Missense_Mutation_p.P341L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	341			P -> L (reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane; dbSNP:rs2282143). {ECO:0000269|PubMed:12719534, ECO:0000269|PubMed:14697261, ECO:0000269|PubMed:15499200}.		dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TTCCGCACGCCGCGCCTGAGG	0.597													C|||	332	0.0662939	0.0764	0.0187	5008	,	,		19321	0.126		0.0089	False		,,,				2504	0.0838				p.P341L		Atlas-SNP	.											SLC22A1,NS,carcinoma,-1,1	SLC22A1	69	1	0			c.C1022T	GRCh37	CM041849	SLC22A1	M	rs2282143	scavenged	.	C	LEU/PRO,LEU/PRO	305,4101	165.4+/-196.9	9,287,1907	158	127	137		1022,1022	4.6	0	6	dbSNP_100	137	119,8481	63.1+/-125.2	1,117,4182	yes	missense,missense	SLC22A1	NM_003057.2,NM_153187.1	98,98	10,404,6089	TT,TC,CC		1.3837,6.9224,3.26	probably-damaging,probably-damaging	341/555,341/507	160557643	424,12582	2203	4300	6503	SO:0001583	missense	6580	exon6			GCACGCCGCGCCT	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1022C>T	6.37:g.160557643C>T	ENSP00000355930:p.Pro341Leu	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	118	58	0.491525	NM_153187	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	CCDS5274.1	126	0.057692307692307696	36	0.07317073170731707	8	0.022099447513812154	77	0.1346153846153846	5	0.006596306068601583	C	16.21	3.059342	0.55325	0.069224	0.013837	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.62364	0.03;0.03;0.03	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067775	0.64402	D	0.000011	D	0.83755	0.5323	H	0.96861	3.895	0.58432	D	0.999995	D;D	0.76494	0.999;0.998	D;D	0.71184	0.952;0.972	D	0.89931	0.4066	10	0.72032	D	0.01	.	17.3506	0.87322	0.0:1.0:0.0:0.0	rs2282143;rs56860747;rs2282143	341;341	O15245-2;O15245	.;S22A1_HUMAN	L	341	ENSP00000355930:P341L;ENSP00000318103:P341L;ENSP00000409557:P341L	ENSP00000318103:P341L	P	+	2	0	SLC22A1	160477633	0.925000	0.31364	0.000000	0.03702	0.001000	0.01503	4.239000	0.58694	2.085000	0.62840	0.561000	0.74099	CCG	C|0.949;T|0.051	0.051	strong		0.597	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			T	160557643	C	T	160557643	3	4	22	1	0	0	0	0	1	0	0	0	14440	652	23	1	1044	1	SLC22A1	6	160557643	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40162	160557643	10557424	4005	9113										
SLC22A3	6581	hgsc.bcm.edu	37	chr6	160769811	160769811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgccgccttccccaaccgCtcggctccccttgtgccgtg	9	21	0	0	rs668871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160769811C>T	ENST00000275300.2	+	1	512	c.360C>T	c.(358-360)cgC>cgT	p.R120R	SLC22A3_ENST00000392145.1_Silent_p.R120R	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	120					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TCCCCAACCGCTCGGCTCCCC	0.741													T|||	2161	0.43151	0.5605	0.4424	5008	,	,		12151	0.2857		0.4742	False		,,,				2504	0.3558				p.R120R		Atlas-SNP	.											.	SLC22A3	58	.	0			c.C360T						PASS	.	T		2015,1197		677,661,268	4	4	4		360	2.8	0.5	6	dbSNP_83	4	3611,3005		1085,1441,782	no	coding-synonymous	SLC22A3	NM_021977.2		1762,2102,1050	TT,TC,CC		45.4202,37.2665,42.7554		120/557	160769811	5626,4202	1606	3308	4914	SO:0001819	synonymous_variant	6581	exon1			CAACCGCTCGGCT	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.360C>T	6.37:g.160769811C>T		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	5	4	0.8	NM_021977	Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	CCDS5277.1																																																																																			T|0.369;G|0.002;C|0.629	0.369	strong		0.741	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		T	160769811	C	T	160769811	2	4	22	1	0	0	0	0	0	0	0	1	14455	784	28	2		2	SLC22A3	6	160769811	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	212168	160769811	10345256	4006	9114										
LPA	4018	hgsc.bcm.edu	37	chr6	160977167	160977167	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtgcctcgataactctgGccattaccatggtagcactg	9	11	1	0	rs375904594		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:160977167G>T	ENST00000316300.5	-	30	4907	c.4863C>A	c.(4861-4863)ggC>ggA	p.G1621G	LPA_ENST00000447678.1_Silent_p.G1621G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4129	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATAACTCTGGCCATTACCAT	0.483																																					p.G1621G		Atlas-SNP	.											LPA,right_upper_lobe,carcinoma,-1,1	LPA	237	1	0			c.C4863A						scavenged	.	T		0,4376		0,0,2188	154	156	155		4863	-5.5	0	6		155	1,8599		0,1,4299	no	coding-synonymous	LPA	NM_005577.2		0,1,6487	TT,TG,GG		0.0116,0.0,0.0077		1621/2041	160977167	1,12975	2188	4300	6488	SO:0001819	synonymous_variant	4018	exon31			ACTCTGGCCATTA	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4863C>A	6.37:g.160977167G>T		Somatic	342	2	0.00584795		WXS	Illumina HiSeq	Phase_I	361	33	0.0914127	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																			.	.	weak		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	160977167	G	T	160977167	2	4	22	1	0	0	0	0	0	0	0	1	8903	1190	42	4		4	LPA	6	160977167	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	207356	160977167	10137900	4007	9115										
LPA	4018	hgsc.bcm.edu	37	chr6	161007496	161007496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccttcttcagaaggaaGctctgtgcttggaactggga	11	9	3	1	rs7765781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161007496G>C	ENST00000316300.5	-	25	4158	c.4114C>G	c.(4114-4116)Ctt>Gtt	p.L1372V	LPA_ENST00000447678.1_Missense_Mutation_p.L1372V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3880	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCAGAAGGAAGCTCTGTGCTT	0.478													C|||	2078	0.414936	0.6006	0.268	5008	,	,		20695	0.4107		0.3648	False		,,,				2504	0.3241				p.L1372V		Atlas-SNP	.											.	LPA	237	.	0			c.C4114G						PASS	.	C	VAL/LEU	2188,1720		625,938,391	116	112	114		4114	-2.2	0	6	dbSNP_116	114	2865,5499		510,1845,1827	yes	missense	LPA	NM_005577.2	32	1135,2783,2218	CC,CG,GG		34.2539,44.0123,41.175	benign	1372/2041	161007496	5053,7219	1954	4182	6136	SO:0001583	missense	4018	exon26			AAGGAAGCTCTGT	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4114C>G	6.37:g.161007496G>C	ENSP00000321334:p.Leu1372Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	128	71	0.554688	NM_005577	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	940	0.43040293040293043	312	0.6341463414634146	99	0.27348066298342544	240	0.4195804195804196	289	0.3812664907651715	c	0.003	-2.485890	0.00163	0.559877	0.342539	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.86956	-2.19;-2.19	2.39	-2.21	0.06973	Kringle (1);	.	.	.	.	T	0.34861	0.0912	N	0.01352	-0.895	0.80722	P	0.0	B	0.22683	0.073	B	0.12837	0.008	T	0.07083	-1.0791	8	0.13470	T	0.59	.	4.4369	0.11555	0.0:0.2799:0.1829:0.5372	rs7765781;rs52813570;rs7765781	3880	P08519	APOA_HUMAN	V	1372	ENSP00000321334:L1372V;ENSP00000395608:L1372V	ENSP00000321334:L1372V	L	-	1	0	LPA	160927486	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.349000	0.02627	-0.967000	0.03582	-0.444000	0.05651	CTT	G|0.582;C|0.418	0.418	strong		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		C	161007496	G	C	161007496	3	2	22	1	0	0	0	0	1	0	0	0	8903	971	34	4	2068	4	LPA	6	161007496	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30329	161007496	10107571	4008	9116										
LPA	4018	hgsc.bcm.edu	37	chr6	161007538	161007538	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgtgggagttgtgaggaGagttgattccatcactggac	14	8	1	3	rs7765803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161007538G>C	ENST00000316300.5	-	25	4116	c.4072C>G	c.(4072-4074)Ctc>Gtc	p.L1358V	LPA_ENST00000447678.1_Missense_Mutation_p.L1358V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3866	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTTGTGAGGAGAGTTGATTCC	0.517													C|||	2049	0.409145	0.5772	0.268	5008	,	,		19647	0.4107		0.3648	False		,,,				2504	0.3262				p.L1358V		Atlas-SNP	.											.	LPA	237	.	0			c.C4072G						PASS	.	C	VAL/LEU	2242,1964		617,1008,478	137	137	137		4072	-2.6	0	6	dbSNP_116	137	2935,5587		530,1875,1856	yes	missense	LPA	NM_005577.2	32	1147,2883,2334	CC,CG,GG		34.4403,46.6952,40.6741	benign	1358/2041	161007538	5177,7551	2103	4261	6364	SO:0001583	missense	4018	exon26			TGAGGAGAGTTGA	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4072C>G	6.37:g.161007538G>C	ENSP00000321334:p.Leu1358Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	174	96	0.551724	NM_005577	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	931	0.42628205128205127	303	0.6158536585365854	99	0.27348066298342544	240	0.4195804195804196	289	0.3812664907651715	c	0.004	-2.377643	0.00207	0.533048	0.344403	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61980	0.06;0.06	2.04	-2.6	0.06190	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.04092	0.0114	N	0.00138	-2.015	0.80722	P	0.0	B	0.26483	0.15	B	0.17722	0.019	T	0.17684	-1.0361	8	0.02654	T	1	.	6.4809	0.22063	0.1895:0.2458:0.5647:0.0	rs7765803;rs7765803	3866	P08519	APOA_HUMAN	V	1358	ENSP00000321334:L1358V;ENSP00000395608:L1358V	ENSP00000321334:L1358V	L	-	1	0	LPA	160927528	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.546000	0.02188	-0.794000	0.04468	-0.980000	0.02579	CTC	G|0.569;C|0.431	0.431	strong		0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		C	161007538	G	C	161007538	3	2	22	1	0	0	0	0	1	0	0	0	8903	942	33	4	2110	4	LPA	6	161007538	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42	161007538	10107529	4009	9117										
LPA	4018	hgsc.bcm.edu	37	chr6	161026103	161026103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtagtatgctggggtccGactatgcgagtgtggtgtca	17	6	1	0	rs189364869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161026103G>A	ENST00000316300.5	-	18	2964	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	LPA_ENST00000447678.1_Missense_Mutation_p.R974W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3482	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTGGGGTCCGACTATGCGAG	0.443													G|||	4	0.000798722	0.003	0.0	5008	,	,		21608	0.0		0.0	False		,,,				2504	0.0				p.R974W		Atlas-SNP	.											.	LPA	237	.	0			c.C2920T						PASS	.	G	TRP/ARG	12,4376	17.9+/-39.9	0,12,2182	367	381	376		2920	0.9	0	6		376	0,8596		0,0,4298	no	missense	LPA	NM_005577.2	101	0,12,6480	AA,AG,GG		0.0,0.2735,0.0924	probably-damaging	974/2041	161026103	12,12972	2194	4298	6492	SO:0001583	missense	4018	exon19			GGGTCCGACTATG	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2920C>T	6.37:g.161026103G>A	ENSP00000321334:p.Arg974Trp	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	73	30	0.410959	NM_005577	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	7.632	0.679154	0.14907	0.002735	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.16	0.902	0.19290	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.61022	0.2314	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.47911	-0.9080	9	0.36615	T	0.2	.	5.0035	0.14277	0.0:0.0:0.3278:0.6722	.	3482	P08519	APOA_HUMAN	W	974	ENSP00000321334:R974W;ENSP00000395608:R974W	ENSP00000321334:R974W	R	-	1	2	LPA	160946093	0.049000	0.20398	0.002000	0.10522	0.135000	0.20990	0.804000	0.27098	0.095000	0.17434	0.184000	0.17185	CGG	G|0.999;A|0.001	0.001	strong		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161026103	G	A	161026103	3	1	22	1	0	0	0	0	1	0	0	0	8903	1057	37	1	3290	1	LPA	6	161026103	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18565	161026103	10088964	4010	9118										
LPA	4018	hgsc.bcm.edu	37	chr6	161032668	161032668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcttggcaggttcttccAgtgacagtggtggagtatgt	14	7	1	1	rs113727842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161032668A>G	ENST00000316300.5	-	16	2573	c.2529T>C	c.(2527-2529)acT>acC	p.T843T	LPA_ENST00000447678.1_Silent_p.T843T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3351	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T843T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGTTCTTCCAGTGACAGTGG	0.498													-|||	1977	0.394768	0.466	0.268	5008	,	,		24720	0.4345		0.3966	False		,,,				2504	0.3456				p.T843T		Atlas-SNP	.											LPA,NS,carcinoma,0,1	LPA	237	1	1	Substitution - coding silent(1)	prostate(1)	c.T2529C						scavenged	.	T		1097,1337		269,559,389	146	158	154		2529	0.8	0	6	dbSNP_132	154	1749,3323		338,1073,1125	no	coding-synonymous	LPA	NM_005577.2		607,1632,1514	GG,GA,AA		34.4834,45.0698,37.9163		843/2041	161032668	2846,4660	1217	2536	3753	SO:0001819	synonymous_variant	4018	exon17			TCTTCCAGTGACA	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2529T>C	6.37:g.161032668A>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	29	8	0.275862	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																			A|0.250;G|0.750	0.750	weak		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		G	161032668	A	G	161032668	2	3	22	1	0	0	0	0	0	0	0	1	8903	175	7	3		3	LPA	6	161032668	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6565	161032668	10082399	4011	9119										
PLG	5340	hgsc.bcm.edu	37	chr6	161132146	161132146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagactgggaatggaaagaaCtacagagggacgatgtccaa	13	6	0	3	rs4757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161132146C>T	ENST00000308192.9	+	4	393	c.330C>T	c.(328-330)aaC>aaT	p.N110N	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Silent_p.N110N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	110	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	ATGGAAAGAACTACAGAGGGA	0.453													C|||	1249	0.249401	0.5083	0.2248	5008	,	,		21058	0.001		0.3012	False		,,,				2504	0.1196				p.N110N		Atlas-SNP	.											.	PLG	150	.	0			c.C330T						PASS	.	C	,	2084,2322	573.3+/-383.5	478,1128,597	111	98	103		330,330	1.2	0.9	6	dbSNP_52	103	2713,5883	434.7+/-357.8	407,1899,1992	no	coding-synonymous,coding-synonymous	PLG	NM_000301.3,NM_001168338.1	,	885,3027,2589	TT,TC,CC		31.5612,47.2991,36.8943	,	110/811,110/137	161132146	4797,8205	2203	4298	6501	SO:0001819	synonymous_variant	5340	exon4			AAAGAACTACAGA	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.330C>T	6.37:g.161132146C>T		Somatic	289	1	0.00346021		WXS	Illumina HiSeq	Phase_I	268	265	0.988806	NM_001168338	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			C|0.671;T|0.329	0.329	strong		0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161132146	C	T	161132146	2	4	22	1	0	0	0	0	0	0	0	1	12086	564	20	2		2	PLG	6	161132146	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99478	161132146	9982921	4012	9120										
PLG	5340	hgsc.bcm.edu	37	chr6	161139857	161139857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccagtatccacggaacaAttggctcccacaggtaagca	8	14	0	0	rs13231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161139857A>G	ENST00000308192.9	+	9	1146	c.1083A>G	c.(1081-1083)caA>caG	p.Q361Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	361				Q -> E (in Ref. 7; AA sequence and 9; AA sequence). {ECO:0000305}.	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)	CCACGGAACAATTGGCTCCCA	0.498													G|||	683	0.136382	0.1452	0.1744	5008	,	,		17688	0.0		0.2922	False		,,,				2504	0.0777				p.Q361Q		Atlas-SNP	.											.	PLG	150	.	0			c.A1083G						PASS	.	G		777,3629	752.2+/-412.3	59,659,1485	76	72	73		1083	-8.7	0	6	dbSNP_52	73	2587,6013	689.3+/-404.3	365,1857,2078	no	coding-synonymous	PLG	NM_000301.3		424,2516,3563	GG,GA,AA		30.0814,17.635,25.865		361/811	161139857	3364,9642	2203	4300	6503	SO:0001819	synonymous_variant	5340	exon9			GGAACAATTGGCT	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.1083A>G	6.37:g.161139857A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_000301	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			A|0.787;G|0.213	0.213	strong		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		G	161139857	A	G	161139857	2	3	22	1	0	0	0	0	0	0	0	1	12086	98	4	2		2	PLG	6	161139857	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7711	161139857	9975210	4013	9121										
PLG	5340	hgsc.bcm.edu	37	chr6	161152240	161152240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcctgttgtcctgcttccaGatgtagagactccttccgaa	9	13	0	2	rs4252125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:161152240G>A	ENST00000308192.9	+	11	1477	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	472			D -> N (in dbSNP:rs4252125). {ECO:0000269|PubMed:2318848, ECO:0000269|Ref.4, ECO:0000269|Ref.7, ECO:0000269|Ref.9}.		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)	CCTGCTTCCAGATGTAGAGAC	0.502													A|||	700	0.139776	0.152	0.1787	5008	,	,		19629	0.0		0.2962	False		,,,				2504	0.0787				p.D472N		Atlas-SNP	.											.	PLG	150	.	0			c.G1414A	GRCh37	CM043559	PLG	M	rs4252125	PASS	.	A	ASN/ASP	804,3602	749.7+/-412.0	66,672,1465	95	87	90		1414	2.1	0	6	dbSNP_111	90	2604,5996	688.3+/-404.3	368,1868,2064	yes	missense	PLG	NM_000301.3	23	434,2540,3529	AA,AG,GG		30.2791,18.2478,26.2033	benign	472/811	161152240	3408,9598	2203	4300	6503	SO:0001583	missense	5340	exon11			CTTCCAGATGTAG	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.1414G>A	6.37:g.161152240G>A	ENSP00000308938:p.Asp472Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	354	0.1620879120879121	69	0.1402439024390244	73	0.20165745856353592	0	0.0	212	0.2796833773087071	A	4.858	0.159413	0.09236	0.182478	0.302791	ENSG00000122194	ENST00000308192	T	0.62105	0.05	4.5	2.08	0.27032	.	0.677337	0.12596	N	0.455126	T	0.18593	0.0446	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.03993	-1.0986	9	0.34782	T	0.22	.	8.3175	0.32108	0.7311:0.0:0.2689:0.0	rs4252125;rs17639358;rs52806400;rs60784473;rs4252125	472	P00747	PLMN_HUMAN	N	472	ENSP00000308938:D472N	ENSP00000308938:D472N	D	+	1	0	PLG	161072230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.058000	0.14301	-0.295000	0.08960	-2.697000	0.00138	GAT	G|0.784;A|0.216	0.216	strong		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161152240	G	A	161152240	3	1	22	1	0	0	0	0	1	0	0	0	12086	942	33	2	1460	2	PLG	6	161152240	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12383	161152240	9962827	4014	9122										
PARK2	5071	hgsc.bcm.edu	37	chr6	162475167	162475167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggattggcattcaccactcaTccggtttggaattaaaacat	8	9	2	0	rs9456735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:162475167T>G	ENST00000366898.1	-	5	676	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	PARK2_ENST00000366897.1_Intron|PARK2_ENST00000338468.3_Start_Codon_SNP_p.M1L|PARK2_ENST00000366894.1_Start_Codon_SNP_p.M1L|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.M192L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	192			M -> L (in PARK2; unknown pathological significance; dbSNP:rs9456735). {ECO:0000269|PubMed:11971093}.|M -> V (in PARK2; unknown pathological significance; dbSNP:rs9456735). {ECO:0000269|PubMed:12629236}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCACCACTCATCCGGTTTGGA	0.398													T|||	95	0.0189696	0.0681	0.0029	5008	,	,		18248	0.0		0.003	False		,,,				2504	0.0				p.M192L		Atlas-SNP	.											.	PARK2	96	.	0			c.A574C	GRCh37	CM024241|CM030925	PARK2	M	rs9456735	PASS	.	T	LEU/MET,,	252,4154	146.1+/-180.8	8,236,1959	141	123	129		574,,	5.4	1	6	dbSNP_119	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	15,,	8,237,6258	GG,GT,TT		0.0116,5.7195,1.9453	benign,,	192/466,,	162475167	253,12753	2203	4300	6503	SO:0001583	missense	5071	exon5			CACTCATCCGGTT		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.574A>C	6.37:g.162475167T>G	ENSP00000355865:p.Met192Leu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	53	0.546392	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	43	0.019688644688644688	40	0.08130081300813008	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	T	14.04	2.416234	0.42918	0.057195	1.16E-4	ENSG00000185345	ENST00000366898;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D	0.90385	-2.58;-2.33;-2.33;-2.66	5.39	5.39	0.77823	.	0.199863	0.45867	D	0.000329	T	0.79364	0.4433	L	0.41236	1.265	0.29921	N	0.822717	B;B;B	0.17268	0.021;0.001;0.016	B;B;B	0.17722	0.019;0.001;0.003	T	0.74583	-0.3617	10	0.54805	T	0.06	.	11.8193	0.52228	0.0:0.0:0.0:1.0	rs9456735;rs52822498;rs9456735	192;192;1	O60260-5;O60260;Q8NI42	.;PRKN2_HUMAN;.	L	192;1;1;1;192;113	ENSP00000355865:M192L;ENSP00000355860:M1L;ENSP00000343589:M1L;ENSP00000355858:M192L	ENSP00000343589:M1L	M	-	1	0	PARK2	162395157	0.984000	0.35163	0.997000	0.53966	0.944000	0.59088	2.591000	0.46163	2.043000	0.60533	0.533000	0.62120	ATG	T|0.977;G|0.023	0.023	strong		0.398	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			G	162475167	T	G	162475167	3	3	22	1	0	0	0	0	1	0	0	0	11449	1435	50	5	855	5	PARK2	6	162475167	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1322927	162475167	8639900	4015	9123										
C6orf118	168090	hgsc.bcm.edu	37	chr6	165715460	165715460	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcctcactggggaccagGgccgtgtggatggtgaagtg	19	8	1	1	rs9459355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:165715460G>C	ENST00000230301.8	-	2	371	c.351C>G	c.(349-351)gcC>gcG	p.A117A	C6orf118_ENST00000543069.1_Silent_p.A13A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	117										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGGGACCAGGGCCGTGTGGA	0.662													C|||	809	0.161542	0.357	0.1052	5008	,	,		16632	0.0129		0.1551	False		,,,				2504	0.0971				p.A117A		Atlas-SNP	.											.	C6orf118	116	.	0			c.C351G						PASS	.	C		1468,2938	677.8+/-403.4	254,960,989	65	69	68		351	-10.2	0	6	dbSNP_119	68	1227,7373	760.8+/-407.6	87,1053,3160	no	coding-synonymous	C6orf118	NM_144980.3		341,2013,4149	CC,CG,GG		14.2674,33.3182,20.7212		117/470	165715460	2695,10311	2203	4300	6503	SO:0001819	synonymous_variant	168090	exon2			GACCAGGGCCGTG		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.351C>G	6.37:g.165715460G>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_144980	Q8TC11	Silent	SNP	ENST00000230301.8	37	CCDS5288.1																																																																																			G|0.804;C|0.196	0.196	strong		0.662	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		C	165715460	G	C	165715460	2	2	22	1	0	0	0	0	0	0	0	1	2323	1219	43	4		4	C6orf118	6	165715460	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3240293	165715460	5399607	4016	9124										
C6orf118	168090	hgsc.bcm.edu	37	chr6	165715673	165715673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtggtctttctgaagccgAttcagaagtttcttcagatt	10	8	5	3	rs9459356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:165715673A>G	ENST00000230301.8	-	2	158	c.138T>C	c.(136-138)aaT>aaC	p.N46N	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	46										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGAAGCCGATTCAGAAGTT	0.542													G|||	806	0.160942	0.3548	0.1037	5008	,	,		17965	0.0129		0.1551	False		,,,				2504	0.0982				p.N46N		Atlas-SNP	.											.	C6orf118	116	.	0			c.T138C						PASS	.	G		1472,2934	679.0+/-403.6	256,960,987	82	91	88		138	-0.8	0	6	dbSNP_119	88	1227,7373	762.6+/-407.6	87,1053,3160	no	coding-synonymous	C6orf118	NM_144980.3		343,2013,4147	GG,GA,AA		14.2674,33.409,20.752		46/470	165715673	2699,10307	2203	4300	6503	SO:0001819	synonymous_variant	168090	exon2			AAGCCGATTCAGA		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.138T>C	6.37:g.165715673A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	191	83	0.434555	NM_144980	Q8TC11	Silent	SNP	ENST00000230301.8	37	CCDS5288.1																																																																																			A|0.802;G|0.198	0.198	strong		0.542	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		G	165715673	A	G	165715673	2	3	22	1	0	0	0	0	0	0	0	1	2323	330	12	2		2	C6orf118	6	165715673	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	213	165715673	5399394	4017	9125										
PDE10A	10846	hgsc.bcm.edu	37	chr6	165801790	165801790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtgcagtgactcacctgGaggatggacacagtctggga	16	9	2	1	rs1511746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:165801790G>A	ENST00000366882.1	-	18	1933	c.1779C>T	c.(1777-1779)ctC>ctT	p.L593L	PDE10A_ENST00000354448.4_Silent_p.L593L|PDE10A_ENST00000539869.2_Silent_p.L603L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	593					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GACTCACCTGGAGGATGGACA	0.532													G|||	906	0.180911	0.348	0.1297	5008	,	,		15923	0.003		0.1491	False		,,,				2504	0.2076				p.L603L	Esophageal Squamous(22;308 615 5753 12038 40624)	Atlas-SNP	.											.	PDE10A	154	.	0			c.C1809T						PASS	.	G	,	1355,3051	452.2+/-349.9	205,945,1053	145	123	130		1809,1779	-11.8	0.9	6	dbSNP_88	130	1249,7351	249.9+/-277.0	88,1073,3139	no	coding-synonymous,coding-synonymous	PDE10A	NM_001130690.1,NM_006661.2	,	293,2018,4192	AA,AG,GG		14.5233,30.7535,20.0215	,	603/790,593/780	165801790	2604,10402	2203	4300	6503	SO:0001819	synonymous_variant	10846	exon17			CACCTGGAGGATG	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1779C>T	6.37:g.165801790G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	87	38	0.436782	NM_001130690	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37																																																																																				G|0.806;A|0.194	0.194	strong		0.532	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			A	165801790	G	A	165801790	2	1	22	1	0	0	0	0	0	0	0	1	11630	1161	41	2		2	PDE10A	6	165801790	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86117	165801790	5313277	4018	9126										
RPS6KA2	6196	hgsc.bcm.edu	37	chr6	166912062	166912062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccggttcaccacctcgggCgccatgtactcgatcgtccc	10	18	1	0	rs2230732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:166912062C>T	ENST00000265678.4	-	8	904	c.681G>A	c.(679-681)gcG>gcA	p.A227A	RPS6KA2_ENST00000405189.3_Silent_p.A138A|RPS6KA2_ENST00000366863.2_Silent_p.A73A|RPS6KA2_ENST00000503859.1_Silent_p.A235A|RPS6KA2_ENST00000510118.1_Silent_p.A252A|RPS6KA2_ENST00000481261.2_Silent_p.A138A	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	227	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCACCTCGGGCGCCATGTACT	0.602													C|||	1029	0.205471	0.5356	0.1744	5008	,	,		21865	0.0179		0.0746	False		,,,				2504	0.1094				p.A235A		Atlas-SNP	.											.	RPS6KA2	212	.	0			c.G705A						PASS	.	C	,	2040,2366	565.7+/-381.7	464,1112,627	179	116	137		705,681	-7.4	1	6	dbSNP_98	137	735,7865	178.0+/-227.5	42,651,3607	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	506,1763,4234	TT,TC,CC		8.5465,46.3005,21.3363	,	235/742,227/734	166912062	2775,10231	2203	4300	6503	SO:0001819	synonymous_variant	6196	exon9			CTCGGGCGCCATG	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.681G>A	6.37:g.166912062C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	87	39	0.448276	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			C|0.805;T|0.194	0.194	strong		0.602	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166912062	C	T	166912062	2	4	22	1	0	0	0	0	0	0	0	1	13651	755	27	1		1	RPS6KA2	6	166912062	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1110272	166912062	4203005	4019	9127										
TCP10L2	401285	hgsc.bcm.edu	37	chr6	167585652	167585652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgctggagggtcagctcgAggccagggagcccaaggagg	19	9	1	0	rs59203630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:167585652A>C	ENST00000366832.2	+	2	151	c.20A>C	c.(19-21)gAg>gCg	p.E7A		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	7										endometrium(1)|kidney(2)|lung(3)	6						GGTCAGCTCGAGGCCAGGGAG	0.672													A|||	197	0.0393371	0.1422	0.013	5008	,	,		18107	0.0		0.0	False		,,,				2504	0.0				p.E7A		Atlas-SNP	.											.	TCP10L2	41	.	0			c.A20C						PASS	.	A	ALA/GLU	207,1177		20,167,505	21	31	28		20	-2.1	0	6	dbSNP_129	28	0,3182		0,0,1591	no	missense	TCP10L2	NM_001145121.1	107	20,167,2096	CC,CA,AA		0.0,14.9566,4.5335	possibly-damaging	7/354	167585652	207,4359	692	1591	2283	SO:0001583	missense	401285	exon2			AGCTCGAGGCCAG		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.20A>C	6.37:g.167585652A>C	ENSP00000355797:p.Glu7Ala	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	177	173	0.977401	NM_001145121		Missense_Mutation	SNP	ENST00000366832.2	37	CCDS47514.1	75	0.034340659340659344	73	0.1483739837398374	2	0.0055248618784530384	0	0.0	0	0.0	a	11.90	1.775977	0.31411	0.149566	0.0	ENSG00000166984	ENST00000486697;ENST00000366832	T	0.20200	2.09	2.61	-2.13	0.07144	.	.	.	.	.	T	0.10852	0.0265	L	0.51422	1.61	0.80722	P	0.0	D	0.58268	0.982	P	0.52554	0.702	T	0.04811	-1.0925	8	0.62326	D	0.03	.	3.0393	0.06133	0.4685:0.2327:0.2987:0.0	rs59203630	7	B9ZVM9	TCP2L_HUMAN	A	7	ENSP00000355797:E7A	ENSP00000283507:E7A	E	+	2	0	TCP10L2	167505642	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.176000	0.16782	-0.554000	0.06150	-0.863000	0.03009	GAG	A|0.966;C|0.034	0.034	strong		0.672	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		C	167585652	A	C	167585652	3	2	22	1	0	0	0	0	1	0	0	0	15709	304	11	5	22	5	TCP10L2	6	167585652	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	673590	167585652	3529415	4020	9128										
TCP10L2	401285	hgsc.bcm.edu	37	chr6	167592535	167592535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgaagtctgcaaaactccGgtggcagaaaatcaccagtg	10	12	2	1	rs145355467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:167592535G>C	ENST00000366832.2	+	6	825	c.694G>C	c.(694-696)Ggt>Cgt	p.G232R		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	232										endometrium(1)|kidney(2)|lung(3)	6						GCAAAACTCCGGTGGCAGAAA	0.602													A|||	95	0.0189696	0.0325	0.0173	5008	,	,		13331	0.0		0.0199	False		,,,				2504	0.0204				p.G232R		Atlas-SNP	.											.	TCP10L2	41	.	0			c.G694C						PASS	.	A	ARG/GLY	49,1335		1,47,644	25	28	27		694	0.6	0	6	dbSNP_134	27	83,3099		3,77,1511	no	missense	TCP10L2	NM_001145121.1	125	4,124,2155	CC,CG,GG		2.6084,3.5405,2.8909	benign	232/354	167592535	132,4434	692	1591	2283	SO:0001583	missense	401285	exon6			AACTCCGGTGGCA		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.694G>C	6.37:g.167592535G>C	ENSP00000355797:p.Gly232Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_001145121		Missense_Mutation	SNP	ENST00000366832.2	37	CCDS47514.1	44	0.020146520146520148	22	0.044715447154471545	5	0.013812154696132596	0	0.0	17	0.022427440633245383	a	2.630	-0.286478	0.05605	0.035405	0.026084	ENSG00000166984	ENST00000366832	T	0.15603	2.41	1.87	0.56	0.17279	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47573	-0.9107	9	0.23302	T	0.38	.	1.791	0.03051	0.5132:0.0:0.1895:0.2973	.	232	B9ZVM9	TCP2L_HUMAN	R	232	ENSP00000355797:G232R	ENSP00000283507:G232R	G	+	1	0	TCP10L2	167512525	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.082000	0.11304	-0.235000	0.09767	-1.867000	0.00556	GGT	G|0.979;C|0.021	0.021	strong		0.602	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		C	167592535	G	C	167592535	3	2	22	1	0	0	0	0	1	0	0	0	15709	1116	39	4	712	4	TCP10L2	6	167592535	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6883	167592535	3522532	4021	9129										
UNC93A	54346	hgsc.bcm.edu	37	chr6	167719436	167719436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccctgggcatccagttcGtcggctacgtgatgatctgc	12	13	1	2	rs2072767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:167719436G>A	ENST00000230256.3	+	6	1049	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	UNC93A_ENST00000366829.2_Missense_Mutation_p.V250I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	292			V -> I (in dbSNP:rs2072767). {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CATCCAGTTCGTCGGCTACGT	0.612													G|||	1404	0.280351	0.2587	0.2349	5008	,	,		20543	0.2629		0.2753	False		,,,				2504	0.365				p.V292I		Atlas-SNP	.											.	UNC93A	66	.	0			c.G874A						PASS	.	G	ILE/VAL,ILE/VAL	1158,3248	409.7+/-335.1	153,852,1198	285	237	253		748,874	3.9	0	6	dbSNP_96	253	2187,6413	373.3+/-337.0	263,1661,2376	yes	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	29,29	416,2513,3574	AA,AG,GG		25.4302,26.2823,25.7189	benign,benign	250/416,292/458	167719436	3345,9661	2203	4300	6503	SO:0001583	missense	54346	exon6			CAGTTCGTCGGCT	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.874G>A	6.37:g.167719436G>A	ENSP00000230256:p.Val292Ile	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	175	82	0.468571	NM_018974	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	590	0.27014652014652013	141	0.2865853658536585	88	0.2430939226519337	157	0.2744755244755245	204	0.2691292875989446	G	10.35	1.326484	0.24080	0.262823	0.254302	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.16457	2.34;2.62	4.73	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);	0.131212	0.50627	N	0.000115	T	0.04588	0.0125	L	0.49256	1.55	0.19945	P	0.9999408312	P;P	0.51351	0.944;0.506	B;B	0.35073	0.195;0.078	T	0.19160	-1.0314	9	0.09084	T	0.74	-39.111	12.2369	0.54520	0.083:0.0:0.917:0.0	rs2072767;rs56604367;rs58276443;rs2072767	250;292	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	I	292;250	ENSP00000230256:V292I;ENSP00000355794:V250I	ENSP00000230256:V292I	V	+	1	0	UNC93A	167639426	1.000000	0.71417	0.021000	0.16686	0.154000	0.21943	5.362000	0.66098	1.003000	0.39130	-0.222000	0.12452	GTC	G|0.732;A|0.268	0.268	strong		0.612	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		A	167719436	G	A	167719436	3	1	22	1	0	0	0	0	1	0	0	0	16993	1145	40	1	896	1	UNC93A	6	167719436	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126901	167719436	3395631	4022	9130										
TTLL2	83887	hgsc.bcm.edu	37	chr6	167754702	167754702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaaattccaacatcgaCgctgcaaaaagtgacagagg	10	9	0	2	rs909546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:167754702C>T	ENST00000239587.5	+	3	1402	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	438					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAACATCGACGCTGCAAAAA	0.428													C|||	2571	0.513379	0.6437	0.4265	5008	,	,		23083	0.6181		0.3966	False		,,,				2504	0.411				p.D438D		Atlas-SNP	.											TTLL2,NS,carcinoma,0,1	TTLL2	82	1	0			c.C1314T						PASS	.	C		2691,1715	650.3+/-399.0	823,1045,335	102	95	98		1314	-0.3	0	6	dbSNP_86	98	3605,4995	521.5+/-379.9	736,2133,1431	no	coding-synonymous	TTLL2	NM_031949.4		1559,3178,1766	TT,TC,CC		41.9186,38.9242,48.4084		438/593	167754702	6296,6710	2203	4300	6503	SO:0001819	synonymous_variant	83887	exon3			CATCGACGCTGCA	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1314C>T	6.37:g.167754702C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	CCDS5301.1																																																																																			C|0.503;A|0.003	.	strong		0.428	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		T	167754702	C	T	167754702	2	4	22	1	0	0	0	0	0	0	0	1	16724	535	19	1		1	TTLL2	6	167754702	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35266	167754702	3360365	4023	9131										
TTLL2	83887	hgsc.bcm.edu	37	chr6	167755063	167755063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcaggcaactttgttcttGtttttcctttcaatgaagca	7	8	2	1	rs34931196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:167755063G>A	ENST00000239587.5	+	3	1763	c.1675G>A	c.(1675-1677)Gtt>Att	p.V559I		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	559			V -> I (in dbSNP:rs34931196).		cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTTGTTCTTGTTTTTCCTTT	0.468													G|||	140	0.0279553	0.1036	0.0043	5008	,	,		20361	0.0		0.0	False		,,,				2504	0.0				p.V559I		Atlas-SNP	.											.	TTLL2	82	.	0			c.G1675A						PASS	.	G	ILE/VAL	347,4059	179.7+/-208.2	15,317,1871	92	89	90		1675	1.7	0.9	6	dbSNP_126	90	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TTLL2	NM_031949.4	29	15,321,6167	AA,AG,GG		0.0465,7.8756,2.6988	benign	559/593	167755063	351,12655	2203	4300	6503	SO:0001583	missense	83887	exon3			GTTCTTGTTTTTC	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1675G>A	6.37:g.167755063G>A	ENSP00000239587:p.Val559Ile	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	166	67	0.403614	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	52	0.023809523809523808	50	0.1016260162601626	2	0.0055248618784530384	0	0.0	0	0.0	G	0.039	-1.293630	0.01375	0.078756	4.65E-4	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02121	4.44	4.04	1.67	0.24075	.	0.415985	0.21849	N	0.068208	T	0.00300	0.0009	N	0.04203	-0.255	0.21627	N	0.99962	B	0.06786	0.001	B	0.04013	0.001	T	0.41734	-0.9492	10	0.02654	T	1	.	6.3218	0.21223	0.6774:0.0:0.3226:0.0	rs34931196	559	Q9BWV7	TTLL2_HUMAN	I	559;486	ENSP00000239587:V559I	ENSP00000239587:V559I	V	+	1	0	TTLL2	167675053	1.000000	0.71417	0.874000	0.34290	0.452000	0.32318	0.911000	0.28584	0.164000	0.19529	-0.339000	0.08088	GTT	G|0.970;A|0.030	0.030	strong		0.468	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		A	167755063	G	A	167755063	3	1	22	1	0	0	0	0	1	0	0	0	16724	1377	48	2	1685	2	TTLL2	6	167755063	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	361	167755063	3360004	4024	9132										
MLLT4	4301	hgsc.bcm.edu	37	chr6	168315978	168315978	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgttcaatagattggtGaccgacccagattcggggct	13	9	1	3	rs3213590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:168315978G>C	ENST00000447894.2	+	18	2409	c.2409G>C	c.(2407-2409)gtG>gtC	p.V803V	MLLT4_ENST00000400822.3_Silent_p.V802V|MLLT4_ENST00000392112.1_Silent_p.V787V|MLLT4_ENST00000366806.2_Silent_p.V803V|MLLT4_ENST00000351017.4_Silent_p.V810V|MLLT4_ENST00000344191.4_Silent_p.V803V|MLLT4_ENST00000392108.3_Silent_p.V803V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	803	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATAGATTGGTGACCGACCCAG	0.547			T	MLL	AL								G|||	946	0.188898	0.2103	0.2104	5008	,	,		19363	0.1954		0.0775	False		,,,				2504	0.2526				p.V803V		Atlas-SNP	.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351	.	0			c.G2409C						PASS	.	G	,	723,3683	300.1+/-286.2	51,621,1531	122	96	105		2409,2361	-1.4	0.7	6	dbSNP_106	105	678,7922	170.7+/-221.8	26,626,3648	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	77,1247,5179	CC,CG,GG		7.8837,16.4094,10.772	,	803/1652,787/1744	168315978	1401,11605	2203	4300	6503	SO:0001819	synonymous_variant	4301	exon18			ATTGGTGACCGAC	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2409G>C	6.37:g.168315978G>C		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	210	86	0.409524	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																				G|0.880;C|0.120	0.120	strong		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168315978	G	C	168315978	2	2	22	1	0	0	0	0	0	0	0	1	9629	1277	45	4		4	MLLT4	6	168315978	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	560915	168315978	2799089	4025	9133										
FRMD1	79981	hgsc.bcm.edu	37	chr6	168457966	168457966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggtgcagctgcatgtcGtccaggccatggctgtgctg	15	11	0	0	rs3734899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:168457966G>A	ENST00000283309.6	-	11	1525	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	FRMD1_ENST00000440994.2_Silent_p.D419D|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.D258D	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	487						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTGCATGTCGTCCAGGCCAT	0.672													G|||	1981	0.395567	0.1074	0.353	5008	,	,		17417	0.4871		0.493	False		,,,				2504	0.6207				p.D487D	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	Atlas-SNP	.											.	FRMD1	52	.	0			c.C1461T						PASS	.	G	,	746,3660	296.1+/-284.1	69,608,1526	37	34	35		1257,1461	-5.5	0	6	dbSNP_107	35	3924,4676	536.6+/-383.0	877,2170,1253	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	946,2778,2779	AA,AG,GG		45.6279,16.9315,35.9065	,	419/482,487/550	168457966	4670,8336	2203	4300	6503	SO:0001819	synonymous_variant	79981	exon11			CATGTCGTCCAGG		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1461C>T	6.37:g.168457966G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	150	79	0.526667	NM_024919	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	CCDS5306.1																																																																																			G|0.633;A|0.367	0.367	strong		0.672	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		A	168457966	G	A	168457966	2	1	22	1	0	0	0	0	0	0	0	1	6049	1136	40	1		1	FRMD1	6	168457966	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	141988	168457966	2657101	4026	9134										
THBS2	7058	hgsc.bcm.edu	37	chr6	169621536	169621536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccctcacctgatgtagccAgtcttgggcctgtgagtcag	12	12	3	2	rs1132742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:169621536A>G	ENST00000366787.3	-	21	3609	c.3360T>C	c.(3358-3360)acT>acC	p.T1120T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1120	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T1120T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATGTAGCCAGTCTTGGGCC	0.522													G|||	1331	0.265775	0.3684	0.2421	5008	,	,		17798	0.2361		0.2078	False		,,,				2504	0.2342				p.T1120T	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											THBS2,NS,carcinoma,0,1	THBS2	230	1	1	Substitution - coding silent(1)	stomach(1)	c.T3360C						PASS	.	G		1413,2993	686.4+/-404.7	227,959,1017	159	138	145		3360	-9.9	0	6	dbSNP_86	145	1758,6842	735.4+/-406.9	177,1404,2719	no	coding-synonymous	THBS2	NM_003247.2		404,2363,3736	GG,GA,AA		20.4419,32.0699,24.3811		1120/1173	169621536	3171,9835	2203	4300	6503	SO:0001819	synonymous_variant	7058	exon21			GTAGCCAGTCTTG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3360T>C	6.37:g.169621536A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			G|0.242;N|0.001	0.242	strong		0.522	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		G	169621536	A	G	169621536	2	3	22	1	0	0	0	0	0	0	0	1	15851	175	7	3		3	THBS2	6	169621536	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1163570	169621536	1493531	4027	9135										
THBS2	7058	hgsc.bcm.edu	37	chr6	169622490	169622490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaaccaaagacgaagccGgcatagtcgtcgtcccggtc	12	12	0	1	rs9505895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:169622490G>A	ENST00000366787.3	-	20	3324	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1025	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A1025A(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGACGAAGCCGGCATAGTCGT	0.547													g|||	1108	0.221246	0.2821	0.2205	5008	,	,		17516	0.1518		0.2048	False		,,,				2504	0.228				p.A1025A	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											THBS2,NS,carcinoma,0,1	THBS2	230	1	1	Substitution - coding silent(1)	stomach(1)	c.C3075T						PASS	.	T		1085,3321	391.7+/-328.2	143,799,1261	86	79	82		3075	-8.2	0	6	dbSNP_119	82	1739,6861	315.1+/-312.1	175,1389,2736	no	coding-synonymous	THBS2	NM_003247.2		318,2188,3997	AA,AG,GG		20.2209,24.6255,21.7131		1025/1173	169622490	2824,10182	2203	4300	6503	SO:0001819	synonymous_variant	7058	exon20			GAAGCCGGCATAG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3075C>T	6.37:g.169622490G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	147	86	0.585034	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			G|0.783;A|0.217	0.217	strong		0.547	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169622490	G	A	169622490	2	1	22	1	0	0	0	0	0	0	0	1	15851	1103	39	1		1	THBS2	6	169622490	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	954	169622490	1492577	4028	9136										
THBS2	7058	hgsc.bcm.edu	37	chr6	169648723	169648723	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggagaccacatgccggGtgccgtcaatccagtaggtg	14	12	1	1	rs36088849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:169648723G>C	ENST00000366787.3	-	4	647	c.398C>G	c.(397-399)aCc>aGc	p.T133S		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	133	Heparin-binding. {ECO:0000255}.|Laminin G-like.		T -> S (in dbSNP:rs36088849).		cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACATGCCGGGTGCCGTCAAT	0.652													G|||	119	0.023762	0.0885	0.0029	5008	,	,		18772	0.0		0.0	False		,,,				2504	0.0				p.T133S	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											.	THBS2	230	.	0			c.C398G						PASS	.	G	SER/THR	345,4061	168.7+/-199.5	15,315,1873	84	70	75		398	0.2	0	6	dbSNP_126	75	3,8597	3.0+/-9.4	0,3,4297	yes	missense	THBS2	NM_003247.2	58	15,318,6170	CC,CG,GG		0.0349,7.8302,2.6757	benign	133/1173	169648723	348,12658	2203	4300	6503	SO:0001583	missense	7058	exon4			TGCCGGGTGCCGT		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.398C>G	6.37:g.169648723G>C	ENSP00000355751:p.Thr133Ser	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	110	60	0.545455	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	G	1.088	-0.664792	0.03428	0.078302	3.49E-4	ENSG00000186340	ENST00000366787	T	0.01998	4.51	4.61	0.151	0.14888	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	1.763740	0.03486	U	0.215882	T	0.00384	0.0012	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	10	0.22706	T	0.39	-3.9265	3.3224	0.07054	0.1616:0.2494:0.4685:0.1205	rs36088849	133	P35442	TSP2_HUMAN	S	133	ENSP00000355751:T133S	ENSP00000355751:T133S	T	-	2	0	THBS2	169390648	0.018000	0.18449	0.000000	0.03702	0.012000	0.07955	1.512000	0.35812	0.080000	0.16959	0.563000	0.77884	ACC	G|0.977;C|0.023	0.023	strong		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		C	169648723	G	C	169648723	3	2	22	1	0	0	0	0	1	0	0	0	15851	1261	44	4	3200	4	THBS2	6	169648723	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26233	169648723	1466344	4029	9137										
WDR27	253769	hgsc.bcm.edu	37	chr6	170036466	170036466	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagggcggggggtgcctaCctcttaatctcatctttgca	11	12	3	0	rs111656694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170036466C>A	ENST00000448612.1	-	19	2113		c.e19+1		WDR27_ENST00000333572.6_Splice_Site|WDR27_ENST00000423258.1_Splice_Site|WDR27_ENST00000546525.1_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27							nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGGGTGCCTACCTCTTAATCT	0.373													C|||	139	0.0277556	0.0825	0.0245	5008	,	,		17163	0.004		0.005	False		,,,				2504	0.0041				.		Atlas-SNP	.											.	WDR27	129	.	0			c.2003+1G>T						PASS	.	C	,	310,3396		14,282,1557	56	60	59		,	5	0.1	6	dbSNP_132	59	36,8150		0,36,4057	yes	splice-5,splice-5	WDR27	NM_001202550.1,NM_182552.4	,	14,318,5614	AA,AC,CC		0.4398,8.3648,2.9095	,	,	170036466	346,11546	1853	4093	5946	SO:0001630	splice_region_variant	253769	exon20			TGCCTACCTCTTA	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2003+1G>T	6.37:g.170036466C>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_182552	A5PLM8|C9JGV0|Q5T066	Splice_Site	SNP	ENST00000448612.1	37	CCDS47520.2	53	0.024267399267399268	40	0.08130081300813008	10	0.027624309392265192	0	0.0	3	0.00395778364116095	C	13.36	2.212956	0.39102	0.083648	0.004398	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0154	0.86418	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR27	169778391	1.000000	0.71417	0.075000	0.20258	0.015000	0.08874	4.771000	0.62318	2.316000	0.78162	0.573000	0.79308	.	C|0.980;A|0.020	0.020	strong		0.373	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	Intron	A	170036466	C	A	170036466	5	1	22	1	0	0	0	0	0	0	1	0	17281	521	18	4	597	4	WDR27	6	170036466	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	387743	170036466	1078601	4030	9138										
WDR27	253769	hgsc.bcm.edu	37	chr6	170038674	170038674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccacgagccgaccacatTcgcagggtcccgtcccgggc	12	19	0	0	rs115828649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170038674T>C	ENST00000448612.1	-	18	1939	c.1830A>G	c.(1828-1830)cgA>cgG	p.R610R	WDR27_ENST00000333572.6_Silent_p.R610R|WDR27_ENST00000423258.1_Silent_p.R483R|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	580						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCGACCACATTCGCAGGGTCC	0.602													c|||	140	0.0279553	0.0817	0.0259	5008	,	,		14584	0.005		0.005	False		,,,				2504	0.0041				p.R610R		Atlas-SNP	.											.	WDR27	129	.	0			c.A1830G						PASS	.	C	,	320,3712		12,296,1708	18	21	20		1449,1830	2.5	0	6	dbSNP_132	20	35,8287		0,35,4126	no	coding-synonymous,coding-synonymous	WDR27	NM_001202550.1,NM_182552.4	,	12,331,5834	CC,CT,TT		0.4206,7.9365,2.8736	,	483/731,610/896	170038674	355,11999	2016	4161	6177	SO:0001819	synonymous_variant	253769	exon18			CCACATTCGCAGG	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1830A>G	6.37:g.170038674T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_182552	A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	CCDS47520.2																																																																																			T|0.959;C|0.041	0.041	strong		0.602	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		C	170038674	T	C	170038674	2	2	22	1	0	0	0	0	0	0	0	1	17281	1770	62	2		2	WDR27	6	170038674	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2208	170038674	1076393	4031	9139										
PHF10	55274	hgsc.bcm.edu	37	chr6	170105725	170105725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttaccactattctcacaTtgggagcagtgtataagtga	8	8	1	1	rs4286788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170105725T>C	ENST00000339209.4	-	10	1332	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Silent_p.Q401Q	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	403					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TATTCTCACATTGGGAGCAGT	0.353													T|||	21	0.00419329	0.0151	0.0014	5008	,	,		19342	0.0		0.0	False		,,,				2504	0.0				p.Q403Q		Atlas-SNP	.											.	PHF10	76	.	0			c.A1209G						PASS	.	T	,,	63,4343	59.3+/-96.0	0,63,2140	114	110	111		,1209,1203	-0.5	1	6	dbSNP_111	111	0,8600		0,0,4300	no	utr-3,coding-synonymous,coding-synonymous	PHF10,C6orf120	NM_001029863.1,NM_018288.3,NM_133325.2	,,	0,63,6440	CC,CT,TT		0.0,1.4299,0.4844	,,	,403/499,401/497	170105725	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	55274	exon10			CTCACATTGGGAG	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1209A>G	6.37:g.170105725T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	140	63	0.45	NM_018288	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	CCDS5308.2																																																																																			T|0.995;C|0.005	0.005	strong		0.353	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		C	170105725	T	C	170105725	2	2	22	1	0	0	0	0	0	0	0	1	11821	1490	52	2		2	PHF10	6	170105725	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67051	170105725	1009342	4032	9140										
C6orf70	55780	hgsc.bcm.edu	37	chr6	170155460	170155460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacatttcttatctctgaCcaaggggcaatttgaaattc	6	9	3	2	rs61735516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170155460C>A	ENST00000366773.3	+	3	290	c.257C>A	c.(256-258)aCc>aAc	p.T86N	ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000366772.2_Missense_Mutation_p.T86N|ERMARD_ENST00000418781.3_Missense_Mutation_p.T86N|ERMARD_ENST00000588451.1_5'UTR	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	86					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTATCTCTGACCAAGGGGCAA	0.458													C|||	45	0.00898562	0.0318	0.0043	5008	,	,		16421	0.0		0.0	False		,,,				2504	0.0				p.T86N		Atlas-SNP	.											.	C6orf70	63	.	0			c.C257A						PASS	.	C	ASN/THR	167,4239	111.2+/-149.4	1,165,2037	152	142	146		257	2.9	0.1	6	dbSNP_129	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C6orf70	NM_018341.1	65	1,167,6335	AA,AC,CC		0.0233,3.7903,1.2994	possibly-damaging	86/679	170155460	169,12837	2203	4300	6503	SO:0001583	missense	55780	exon3			CTCTGACCAAGGG	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.257C>A	6.37:g.170155460C>A	ENSP00000355735:p.Thr86Asn	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	297	149	0.501683	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	C	9.157	1.017709	0.19355	0.037903	2.33E-4	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.48201	0.82	5.72	2.91	0.33838	.	0.384232	0.25050	N	0.033534	T	0.26846	0.0657	L	0.56769	1.78	0.35175	D	0.771965	B;B	0.20052	0.041;0.006	B;B	0.16722	0.016;0.007	T	0.07731	-1.0757	10	0.56958	D	0.05	.	11.748	0.51832	0.1294:0.6211:0.2494:0.0	rs61735516	86;86	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	N	86	ENSP00000355735:T86N	ENSP00000355734:T86N	T	+	2	0	C6orf70	169897385	0.815000	0.29118	0.085000	0.20634	0.078000	0.17371	0.775000	0.26689	0.308000	0.22923	-0.310000	0.09108	ACC	C|0.987;A|0.013	0.013	strong		0.458	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		A	170155460	C	A	170155460	3	1	22	1	0	0	0	0	1	0	0	0	2370	507	18	4	267	4	C6orf70	6	170155460	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49735	170155460	959607	4033	9141										
TBP	6908	hgsc.bcm.edu	37	chr6	170878793	170878793	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggacttcaagattcagaaTatggtggggagctgtgatgt	14	4	2	3	rs1042327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170878793T>C	ENST00000392092.2	+	6	1050	c.771T>C	c.(769-771)aaT>aaC	p.N257N	TBP_ENST00000230354.6_Silent_p.N257N|TBP_ENST00000540980.1_Silent_p.N237N	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	257					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AGATTCAGAATATGGTGGGGA	0.413													C|||	3078	0.614617	0.7103	0.4957	5008	,	,		18434	0.7877		0.5139	False		,,,				2504	0.4949				p.N257N		Atlas-SNP	.											.	TBP	58	.	0			c.T771C						PASS	.	C	,	2894,1512	479.7+/-358.6	949,996,258	112	110	111		711,771	-0.5	1	6	dbSNP_86	111	4306,4294	575.7+/-390.3	1082,2142,1076	no	coding-synonymous,coding-synonymous	TBP	NM_001172085.1,NM_003194.4	,	2031,3138,1334	CC,CT,TT		49.9302,34.3168,44.6409	,	237/320,257/340	170878793	7200,5806	2203	4300	6503	SO:0001819	synonymous_variant	6908	exon6			TCAGAATATGGTG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.771T>C	6.37:g.170878793T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	145	143	0.986207	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1	1369	0.6268315018315018	331	0.6727642276422764	197	0.5441988950276243	457	0.798951048951049	384	0.5065963060686016	C	10.23	1.291874	0.23564	0.656832	0.500698	ENSG00000112592	ENST00000446829	.	.	.	6.17	-0.493	0.12038	.	.	.	.	.	T	0.43211	0.1237	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.42327	-0.9458	3	.	.	.	-13.4621	13.7889	0.63128	0.0:0.3984:0.0:0.6016	rs1042327;rs2230089;rs3173217;rs9366249;rs17655609;rs17860791;rs57185976;rs1042327	.	.	.	H	32	.	.	Y	+	1	0	TBP	170720718	0.993000	0.37304	0.989000	0.46669	0.992000	0.81027	0.387000	0.20718	-0.240000	0.09696	-0.119000	0.15052	TAT	T|0.400;C|0.600	0.600	strong		0.413	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		C	170878793	T	C	170878793	2	2	22	1	0	0	0	0	0	0	0	1	15641	1403	49	2		2	TBP	6	170878793	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	723333	170878793	236274	4034	9142										
PDCD2	5134	hgsc.bcm.edu	37	chr6	170892759	170892759	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagacacactgattctccTgtttctgggggaggattctc	12	9	3	2	rs73258640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr6:170892759T>A	ENST00000541970.1	-	2	438	c.360A>T	c.(358-360)acA>acT	p.T120T	PDCD2_ENST00000443345.2_Silent_p.T87T|PDCD2_ENST00000537445.1_Silent_p.T87T|PDCD2_ENST00000392090.2_Silent_p.T87T|PDCD2_ENST00000542896.1_Silent_p.T120T|PDCD2_ENST00000453163.2_Silent_p.T120T	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	120					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CTGATTCTCCTGTTTCTGGGG	0.433													.|||	61	0.0121805	0.0439	0.0029	5008	,	,		17113	0.0		0.001	False		,,,				2504	0.0				p.T120T	Colon(60;1476 1726 39478)	Atlas-SNP	.											.	PDCD2	13	.	0			c.A360T						PASS	.	T	,,,,,	162,4244		5,152,2046	63	62	62		360,261,261,261,360,360	-2.4	0	6	dbSNP_130	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDCD2	NM_001199461.1,NM_001199462.1,NM_001199463.1,NM_001199464.1,NM_002598.3,NM_144781.2	,,,,,	5,152,6346	AA,AT,TT		0.0,3.6768,1.2456	,,,,,	120/222,87/312,87/196,87/189,120/345,120/229	170892759	162,12844	2203	4300	6503	SO:0001819	synonymous_variant	5134	exon2			TTCTCCTGTTTCT	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"Zinc fingers, MYND-type"	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.360A>T	6.37:g.170892759T>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	95	43	0.452632	NM_002598	E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Silent	SNP	ENST00000541970.1	37	CCDS5316.1																																																																																			T|0.985;A|0.015	0.015	strong		0.433	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		A	170892759	T	A	170892759	2	1	22	1	0	0	0	0	0	0	0	1	11619	1567	55	5		5	PDCD2	6	170892759	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13966	170892759	222308	4035	9143										
PRKAR1B	5575	hgsc.bcm.edu	37	chr7	590199	590199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggcccccgggccacgacAgtggccgcccggggccggtt	18	16	0	0	rs11545042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:590199A>G	ENST00000406797.1	-	11	1188	c.1014T>C	c.(1012-1014)acT>acC	p.T338T	AC147651.2_ENST00000517177.1_RNA|PRKAR1B_ENST00000403562.1_Silent_p.T338T|PRKAR1B_ENST00000360274.4_Silent_p.T338T|PRKAR1B_ENST00000537384.1_Silent_p.T338T|PRKAR1B_ENST00000544935.1_Silent_p.T338T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	338					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCCACGACAGTGGCCGCCC	0.672													.|||	795	0.158746	0.2322	0.1124	5008	,	,		11673	0.2391		0.1123	False		,,,				2504	0.0573				p.T338T		Atlas-SNP	.											.	PRKAR1B	32	.	0			c.T1014C						PASS	.	G	,,,,,	885,3459		93,699,1380	21	20	20		1014,1014,1014,1014,1014,1014	-2	1	7	dbSNP_120	20	967,7557		46,875,3341	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKAR1B	NM_001164758.1,NM_001164759.1,NM_001164760.1,NM_001164761.1,NM_001164762.1,NM_002735.2	,,,,,	139,1574,4721	GG,GA,AA		11.3444,20.3729,14.3923	,,,,,	338/382,338/382,338/382,338/382,338/382,338/382	590199	1852,11016	2172	4262	6434	SO:0001819	synonymous_variant	5575	exon11			CACGACAGTGGCC	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.1014T>C	7.37:g.590199A>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	30	30	1	NM_001164760	Q8N422	Silent	SNP	ENST00000406797.1	37	CCDS34579.1	379	0.17353479853479853	126	0.25609756097560976	44	0.12154696132596685	130	0.22727272727272727	79	0.10422163588390501	a	3.749	-0.051904	0.07362	0.203729	0.113444	ENSG00000188191	ENST00000400758	.	.	.	4.65	-1.96	0.07525	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999987	.	.	.	.	.	.	T	0.26780	-1.0093	3	.	.	.	-1.4289	8.2013	0.31426	0.5175:0.2625:0.2199:0.0	rs11545042;rs28722665	.	.	.	P	199	.	.	L	-	2	0	PRKAR1B	556725	0.000000	0.05858	0.964000	0.40570	0.529000	0.34654	-2.186000	0.01251	-0.857000	0.04115	-2.296000	0.00263	CTG	A|0.826;G|0.174	0.174	strong		0.672	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			G	590199	A	G	590199	2	3	22	1	0	0	0	0	0	0	0	1	12504	175	7	3		3	PRKAR1B	7	590199	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10		590199	158548464	4036	9144										
PRKAR1B	5575	hgsc.bcm.edu	37	chr7	720274	720274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcggcgggccttcaccacAgggttcgggggggtgggcga	21	11	1	0	rs200458521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:720274A>G	ENST00000406797.1	-	3	441	c.267T>C	c.(265-267)ccT>ccC	p.P89P	PRKAR1B_ENST00000360274.4_Silent_p.P89P|PRKAR1B_ENST00000544935.1_Silent_p.P89P|PRKAR1B_ENST00000403562.1_Silent_p.P89P|PRKAR1B_ENST00000537384.1_Silent_p.P89P	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	89	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCTTCACCACAGGGTTCGGGG	0.632													a|||	9	0.00179712	0.0061	0.0014	5008	,	,		15949	0.0		0.0	False		,,,				2504	0.0				p.P89P		Atlas-SNP	.											.	PRKAR1B	32	.	0			c.T267C						PASS	.	A	,,,,,	22,4384	24.3+/-50.5	0,22,2181	51	51	51		267,267,267,267,267,267	-9.8	0.1	7		51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKAR1B	NM_001164758.1,NM_001164759.1,NM_001164760.1,NM_001164761.1,NM_001164762.1,NM_002735.2	,,,,,	0,22,6481	GG,GA,AA		0.0,0.4993,0.1692	,,,,,	89/382,89/382,89/382,89/382,89/382,89/382	720274	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	5575	exon3			CACCACAGGGTTC	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.267T>C	7.37:g.720274A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	35	14	0.4	NM_001164760	Q8N422	Silent	SNP	ENST00000406797.1	37	CCDS34579.1																																																																																			A|0.998;G|0.002	0.002	strong		0.632	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			G	720274	A	G	720274	2	3	22	1	0	0	0	0	0	0	0	1	12504	175	7	3		3	PRKAR1B	7	720274	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	130075	720274	158418389	4037	9145										
SUN1	23353	hgsc.bcm.edu	37	chr7	878583	878583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgtgggtgccgacagcGgcaccagcagcgctgtctcc	15	14	1	0	rs114826023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:878583G>T	ENST00000405266.1	+	2	250	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	SUN1_ENST00000457378.2_Missense_Mutation_p.G97C|SUN1_ENST00000425407.2_Missense_Mutation_p.G26C|SUN1_ENST00000401592.1_Missense_Mutation_p.G76C|SUN1_ENST00000456758.2_Missense_Mutation_p.G134C|SUN1_ENST00000403868.1_Missense_Mutation_p.G76C|SUN1_ENST00000389574.3_Missense_Mutation_p.G26C|SUN1_ENST00000452783.2_Missense_Mutation_p.G76C|SUN1_ENST00000469755.1_3'UTR			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	76	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCGACAGCGGCACCAGCAG	0.602													G|||	15	0.00299521	0.0113	0.0	5008	,	,		18035	0.0		0.0	False		,,,				2504	0.0				p.G97C		Atlas-SNP	.											.	SUN1	157	.	0			c.G289T						PASS	.	G	CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY	16,4036		0,16,2010	34	33	34		226,226,289,226,76	-2.4	0	7	dbSNP_132	34	0,8402		0,0,4201	yes	missense,missense,missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_001171945.1,NM_001171946.1,NM_025154.5	159,159,159,159,159	0,16,6211	TT,TG,GG		0.0,0.3949,0.1285	benign,benign,benign,benign,benign	76/786,76/683,97/279,76/258,26/703	878583	16,12438	2026	4201	6227	SO:0001583	missense	23353	exon4			GACAGCGGCACCA	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.226G>T	7.37:g.878583G>T	ENSP00000384116:p.Gly76Cys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_001171945	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		10	0.004578754578754579	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	8.524	0.869408	0.17322	0.003949	0.0	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000440380;ENST00000439679;ENST00000424128;ENST00000457598;ENST00000421580;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.42	-2.43	0.06522	.	2.242240	0.01866	N	0.036910	T	0.06600	0.0169	N	0.00677	-1.265	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.001;0.001;0.004;0.0	B;B;B;B;B	0.12156	0.004;0.003;0.0;0.007;0.002	T	0.10474	-1.0628	10	0.46703	T	0.11	-1.7076	1.8943	0.03254	0.3095:0.0848:0.3628:0.2429	.	76;76;97;26;76	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	C	134;26;97;76;76;76;76;76;76;76;76;76;76;76;26;51	ENSP00000388743:G134C;ENSP00000374225:G26C;ENSP00000395952:G97C;ENSP00000413439:G76C;ENSP00000388430:G76C;ENSP00000413188:G76C;ENSP00000404965:G76C;ENSP00000394381:G76C;ENSP00000384116:G76C;ENSP00000384015:G76C;ENSP00000383947:G76C;ENSP00000392309:G26C;ENSP00000392595:G51C	ENSP00000297445:G76C	G	+	1	0	SUN1	845109	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.218000	0.09240	-0.617000	0.05664	-0.266000	0.10368	GGC	G|0.997;T|0.003	0.003	strong		0.602	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		T	878583	G	T	878583	3	4	22	1	0	0	0	0	1	0	0	0	15388	1116	39	4	299	4	SUN1	7	878583	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	158309	878583	158260080	4038	9146										
SUN1	23353	hgsc.bcm.edu	37	chr7	883088	883088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgtccgagcgcaaggacGtgctcacggcgcaccccgcg	14	16	1	0	rs116520953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:883088G>A	ENST00000405266.1	+	5	613	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	SUN1_ENST00000457378.2_Missense_Mutation_p.V218M|SUN1_ENST00000425407.2_Missense_Mutation_p.V147M|SUN1_ENST00000401592.1_Missense_Mutation_p.V197M|SUN1_ENST00000403868.1_Missense_Mutation_p.V197M|SUN1_ENST00000389574.3_Missense_Mutation_p.V147M|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Missense_Mutation_p.V255M			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	197					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGCAAGGACGTGCTCACGGC	0.592													.|||	32	0.00638978	0.0234	0.0014	5008	,	,		13852	0.0		0.0	False		,,,				2504	0.0				p.V218M		Atlas-SNP	.											.	SUN1	157	.	0			c.G652A						PASS	.	G	MET/VAL,,MET/VAL,MET/VAL,MET/VAL	82,3924		2,78,1923	94	112	107		589,,652,589,439	-0.1	0	7	dbSNP_132	107	1,8309		0,1,4154	yes	missense,intron,missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_001171945.1,NM_001171946.1,NM_025154.5	21,,21,21,21	2,79,6077	AA,AG,GG		0.012,2.0469,0.6739	benign,,benign,benign,benign	197/786,,218/279,197/258,147/703	883088	83,12233	2003	4155	6158	SO:0001583	missense	23353	exon7			AAGGACGTGCTCA	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.589G>A	7.37:g.883088G>A	ENSP00000384116:p.Val197Met	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	73	43	0.589041	NM_001171945	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	15.86	2.959220	0.53400	0.020469	1.2E-4	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000429178	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.4	-0.0819	0.13701	.	1.178380	0.05856	N	0.622191	T	0.11707	0.0285	N	0.19112	0.55	0.09310	N	1	B;P;P;B	0.37038	0.038;0.532;0.579;0.079	B;B;B;B	0.27380	0.035;0.079;0.045;0.024	T	0.09907	-1.0653	10	0.33141	T	0.24	-2.952	5.938	0.19177	0.2089:0.0:0.6586:0.1325	.	197;218;147;197	E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.	M	255;147;218;197;197;197;197;147;28	ENSP00000388743:V255M;ENSP00000374225:V147M;ENSP00000395952:V218M;ENSP00000384116:V197M;ENSP00000384015:V197M;ENSP00000383947:V197M;ENSP00000392309:V147M;ENSP00000409909:V28M	ENSP00000297445:V197M	V	+	1	0	SUN1	849614	0.003000	0.15002	0.000000	0.03702	0.084000	0.17831	0.577000	0.23758	-0.272000	0.09259	0.591000	0.81541	GTG	G|0.996;A|0.004	0.004	strong		0.592	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		A	883088	G	A	883088	3	1	22	1	0	0	0	0	1	0	0	0	15388	1145	40	1	674	1	SUN1	7	883088	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4505	883088	158255575	4039	9147										
SUN1	23353	hgsc.bcm.edu	37	chr7	883105	883105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtgctcacggcgcacccCgcggcccccgggcccgtgtc	14	20	1	0	rs113652875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:883105C>T	ENST00000405266.1	+	5	630	c.606C>T	c.(604-606)ccC>ccT	p.P202P	SUN1_ENST00000457378.2_Silent_p.P223P|SUN1_ENST00000425407.2_Silent_p.P152P|SUN1_ENST00000401592.1_Silent_p.P202P|SUN1_ENST00000403868.1_Silent_p.P202P|SUN1_ENST00000389574.3_Silent_p.P152P|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Silent_p.P260P			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	202					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.P152P(1)|p.P223P(1)|p.P202P(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGCGCACCCCGCGGCCCCCG	0.577													.|||	108	0.0215655	0.0318	0.0303	5008	,	,		14218	0.0		0.0368	False		,,,				2504	0.0082				p.P223P		Atlas-SNP	.											.	SUN1	157	.	3	Substitution - coding silent(3)	lung(3)	c.C669T						PASS	.	C	,,,,	123,3783		3,117,1833	93	110	105		606,,669,606,456	-8.3	0	7	dbSNP_132	105	395,7857		5,385,3736	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	SUN1	NM_001130965.2,NM_001171944.1,NM_001171945.1,NM_001171946.1,NM_025154.5	,,,,	8,502,5569	TT,TC,CC		4.7867,3.149,4.2606	,,,,	202/786,,223/279,202/258,152/703	883105	518,11640	1953	4126	6079	SO:0001819	synonymous_variant	23353	exon7			GCACCCCGCGGCC	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.606C>T	7.37:g.883105C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	84	52	0.619048	NM_001171945	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37		54	0.024725274725274724	10	0.02032520325203252	19	0.052486187845303865	0	0.0	25	0.032981530343007916	C	5.914	0.352670	0.11182	0.03149	0.047867	ENSG00000164828	ENST00000419312	T	0.45668	0.89	4.16	-8.32	0.00996	.	0.484707	0.23375	N	0.048878	T	0.07188	0.0182	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.35251	-0.9796	7	0.72032	D	0.01	-0.6632	8.7454	0.34583	0.0929:0.1:0.0927:0.7143	.	.	.	.	L	43	ENSP00000414279:P43L	ENSP00000414279:P43L	P	+	2	0	SUN1	849631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.997000	0.01470	-2.012000	0.00950	-0.218000	0.12543	CCG	C|0.969;T|0.031	0.031	strong		0.577	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		T	883105	C	T	883105	2	4	22	1	0	0	0	0	0	0	0	1	15388	639	23	1		1	SUN1	7	883105	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	883105	158255558	4040	9148										
GET4	51608	hgsc.bcm.edu	37	chr7	931960	931960	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgcatcggtggtcttcacGacgtacacccagaagcaccc	10	15	2	1	rs11543218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:931960G>A	ENST00000265857.3	+	6	745	c.651G>A	c.(649-651)acG>acA	p.T217T	GET4_ENST00000407192.1_Silent_p.T164T	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	217					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGTCTTCACGACGTACACCC	0.562													G|||	286	0.0571086	0.1589	0.0288	5008	,	,		14499	0.0		0.0388	False		,,,				2504	0.0174				p.T217T		Atlas-SNP	.											.	GET4	17	.	0			c.G651A						PASS	.	G		674,3732	284.0+/-277.4	60,554,1589	99	103	102		651	-11	0.3	7	dbSNP_120	102	306,8294	110.2+/-170.6	7,292,4001	no	coding-synonymous	GET4	NM_015949.2		67,846,5590	AA,AG,GG		3.5581,15.2973,7.535		217/328	931960	980,12026	2203	4300	6503	SO:0001819	synonymous_variant	51608	exon6			CTTCACGACGTAC	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.651G>A	7.37:g.931960G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_015949	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Silent	SNP	ENST00000265857.3	37	CCDS5317.1																																																																																			G|0.929;A|0.071	0.071	strong		0.562	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		A	931960	G	A	931960	2	1	22	1	0	0	0	0	0	0	0	1	6336	1045	37	1		1	GET4	7	931960	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48855	931960	158206703	4041	9149										
GPR146	115330	hgsc.bcm.edu	37	chr7	1097183	1097183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctggttcaacggcacagGgctggtggaggagctgcctg	17	10	1	0	rs11761941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1097183G>A	ENST00000397095.1	+	2	255	c.32G>A	c.(31-33)gGg>gAg	p.G11E	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.G11E|C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AACGGCACAGGGCTGGTGGAG	0.677													G|||	345	0.0688898	0.0204	0.0821	5008	,	,		17500	0.0		0.1262	False		,,,				2504	0.137				p.G11E		Atlas-SNP	.											.	GPR146	20	.	0			c.G32A						PASS	.		,,,GLU/GLY	204,4192		2,200,1996	29	28	28		,,,32	-2.5	0	7	dbSNP_120	28	1342,7256		105,1132,3062	yes	intron,intron,intron,missense	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,98	107,1332,5058	AA,AG,GG		15.6083,4.6406,11.8978	,,,benign	,,,11/334	1097183	1546,11448	2198	4299	6497	SO:0001583	missense	115330	exon1			GCACAGGGCTGGT	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.32G>A	7.37:g.1097183G>A	ENSP00000380283:p.Gly11Glu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	150	79	0.526667	NM_138445	Q86SP5	Missense_Mutation	SNP	ENST00000397095.1	37	CCDS5321.1	143	0.06547619047619048	10	0.02032520325203252	31	0.0856353591160221	0	0.0	102	0.1345646437994723	G	0.662	-0.805227	0.02819	0.046406	0.156083	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000427680;ENST00000297468	T;T;T	0.36340	1.26;1.26;1.26	5.12	-2.48	0.06423	.	0.771901	0.12341	N	0.477461	T	0.00073	0.0002	L	0.34521	1.04	0.80722	P	0.0	B	0.10296	0.003	B	0.08055	0.003	T	0.25117	-1.0141	9	0.06625	T	0.88	-6.8234	0.5541	0.00668	0.3465:0.1291:0.2796:0.2448	rs11761941	11	Q96CH1	GP146_HUMAN	E	11	ENSP00000410743:G11E;ENSP00000380283:G11E;ENSP00000297468:G11E	ENSP00000297468:G11E	G	+	2	0	GPR146	1063709	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.135000	0.15952	-0.364000	0.08088	0.561000	0.74099	GGG	G|0.903;A|0.097	0.097	strong		0.677	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		A	1097183	G	A	1097183	3	1	22	1	0	0	0	0	1	0	0	0	6652	1232	43	2	34	2	GPR146	7	1097183	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165223	1097183	158041480	4042	9150										
GPR146	115330	hgsc.bcm.edu	37	chr7	1097394	1097394	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctcagcgccctggccccTgtgcacctgctcggcccccc	11	21	1	0	rs11767527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1097394T>C	ENST00000397095.1	+	2	466	c.243T>C	c.(241-243)ccT>ccC	p.P81P	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Silent_p.P81P|C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P81P(2)		autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCCTGGCCCCTGTGCACCTGC	0.652													t|||	345	0.0688898	0.0204	0.0821	5008	,	,		18317	0.0		0.1262	False		,,,				2504	0.137				p.P81P		Atlas-SNP	.											GPR146,NS,carcinoma,0,3	GPR146	20	3	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	c.T243C						PASS	.		,,,	200,4200	116.3+/-154.2	3,194,2003	34	31	32		,,,243	-7.6	0	7	dbSNP_120	32	1339,7259	240.0+/-270.9	102,1135,3062	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	105,1329,5065	CC,CT,TT		15.5734,4.5455,11.8403	,,,	,,,81/334	1097394	1539,11459	2200	4299	6499	SO:0001819	synonymous_variant	115330	exon1			GGCCCCTGTGCAC	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.243T>C	7.37:g.1097394T>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	48	16	0.333333	NM_138445	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			T|0.898;C|0.102	0.102	strong		0.652	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		C	1097394	T	C	1097394	2	2	22	1	0	0	0	0	0	0	0	1	6652	1567	55	3		3	GPR146	7	1097394	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	211	1097394	158041269	4043	9151										
GPR146	115330	hgsc.bcm.edu	37	chr7	1097895	1097895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttgggctctggacgccAcactatctgatcctgctggg	12	12	2	1	rs61910751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1097895A>G	ENST00000397095.1	+	2	967	c.744A>G	c.(742-744)ccA>ccG	p.P248P	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Silent_p.P248P|C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCTGGACGCCACACTATCTGA	0.647													G|||	345	0.0688898	0.0204	0.0821	5008	,	,		17834	0.0		0.1262	False		,,,				2504	0.137				p.P248P		Atlas-SNP	.											.	GPR146	20	.	0			c.A744G						PASS	.		,,,	206,4198	800.2+/-415.6	2,202,1998	59	48	52		,,,744	-10.2	0	7	dbSNP_129	52	1354,7244	751.8+/-407.4	106,1142,3051	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	108,1344,5049	GG,GA,AA		15.7478,4.6776,11.9982	,,,	,,,248/334	1097895	1560,11442	2202	4299	6501	SO:0001819	synonymous_variant	115330	exon1			GACGCCACACTAT	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.744A>G	7.37:g.1097895A>G		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	26	13	0.5	NM_138445	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			A|0.893;G|0.106;T|0.000	0.106	strong		0.647	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		G	1097895	A	G	1097895	2	3	22	1	0	0	0	0	0	0	0	1	6652	146	6	2		2	GPR146	7	1097895	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	501	1097895	158040768	4044	9152										
MICALL2	79778	hgsc.bcm.edu	37	chr7	1481983	1481983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtactgctcgtgctcagcGgggctggcggttccatcctc	14	13	1	0	rs4075307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1481983G>A	ENST00000297508.7	-	7	1731	c.1556C>T	c.(1555-1557)cCg>cTg	p.P519L	MICALL2_ENST00000405088.4_Missense_Mutation_p.P307L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	519	Mediates targeting to the cell plasma membrane. {ECO:0000250}.		P -> L (in dbSNP:rs4075307).		actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGTGCTCAGCGGGGCTGGCGG	0.647													G|||	174	0.0347444	0.1241	0.013	5008	,	,		14709	0.0		0.001	False		,,,				2504	0.0				p.P519L		Atlas-SNP	.											.	MICALL2	63	.	0			c.C1556T						PASS	.		LEU/PRO	437,3969	208.8+/-229.8	24,389,1790	121	118	119		1556	1.3	0	7	dbSNP_108	119	5,8595	3.7+/-12.6	0,5,4295	yes	missense	MICALL2	NM_182924.3	98	24,394,6085	AA,AG,GG		0.0581,9.9183,3.3984	possibly-damaging	519/905	1481983	442,12564	2203	4300	6503	SO:0001583	missense	79778	exon7			CTCAGCGGGGCTG	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1556C>T	7.37:g.1481983G>A	ENSP00000297508:p.Pro519Leu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_182924	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	55	0.025183150183150184	50	0.1016260162601626	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	13.70	2.314588	0.40996	0.099183	5.81E-4	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69806	2.37;-0.43	3.76	1.29	0.21616	.	0.235349	0.21901	N	0.067446	T	0.01156	0.0038	L	0.32530	0.975	0.09310	N	0.999999	B;D	0.53312	0.136;0.959	B;B	0.33690	0.006;0.168	T	0.04140	-1.0974	10	0.17832	T	0.49	.	3.0549	0.06181	0.2049:0.2804:0.5147:0.0	rs4075307;rs16870427;rs4075307	519;307	Q8IY33;D3YTD2	MILK2_HUMAN;.	L	307;519	ENSP00000385928:P307L;ENSP00000297508:P519L	ENSP00000297508:P519L	P	-	2	0	MICALL2	1448509	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.665000	0.25083	0.674000	0.31244	0.561000	0.74099	CCG	G|0.965;A|0.035	0.035	strong		0.647	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		A	1481983	G	A	1481983	3	1	22	1	0	0	0	0	1	0	0	0	9574	1116	39	1	1202	1	MICALL2	7	1481983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	384088	1481983	157656680	4045	9153										
MICALL2	79778	hgsc.bcm.edu	37	chr7	1488317	1488317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtcaagatgctcagccgGtcaggcaccttcaaggccac	11	13	4	1	rs78897087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1488317G>A	ENST00000297508.7	-	3	448	c.273C>T	c.(271-273)gaC>gaT	p.D91D	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	91	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TGCTCAGCCGGTCAGGCACCT	0.657													G|||	158	0.0315495	0.1135	0.0115	5008	,	,		15745	0.0		0.0	False		,,,				2504	0.0				p.D91D		Atlas-SNP	.											.	MICALL2	63	.	0			c.C273T						PASS	.			390,4016	190.9+/-216.7	20,350,1833	97	89	92		273	3.2	1	7	dbSNP_132	92	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	MICALL2	NM_182924.3		20,354,6128	AA,AG,GG		0.0465,8.8516,3.0298		91/905	1488317	394,12610	2203	4299	6502	SO:0001819	synonymous_variant	79778	exon3			CAGCCGGTCAGGC	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.273C>T	7.37:g.1488317G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_182924	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																			G|0.968;A|0.032	0.032	strong		0.657	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		A	1488317	G	A	1488317	2	1	22	1	0	0	0	0	0	0	0	1	9574	1252	44	2		2	MICALL2	7	1488317	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6334	1488317	157650346	4046	9154										
INTS1	26173	hgsc.bcm.edu	37	chr7	1533513	1533513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcatcagcgtgtcctccaAaatgggcacctcggagcaca	11	14	1	0	rs2251226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1533513A>G	ENST00000404767.3	-	15	2030	c.1945T>C	c.(1945-1947)Ttg>Ctg	p.L649L	INTS1_ENST00000389470.4_Silent_p.L777L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	649					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGTCCTCCAAAATGGGCACC	0.677													G|||	3083	0.615615	0.8419	0.4236	5008	,	,		16908	0.7123		0.4662	False		,,,				2504	0.5				p.L649L		Atlas-SNP	.											.	INTS1	145	.	0			c.T1945C						PASS	.			3083,975		1206,671,152	17	24	22		1945	2.8	1	7	dbSNP_100	22	3480,4846		768,1944,1451	no	coding-synonymous	INTS1	NM_001080453.2		1974,2615,1603	GG,GA,AA		41.7968,24.0266,47.0042		649/2191	1533513	6563,5821	2029	4163	6192	SO:0001819	synonymous_variant	26173	exon15			CCTCCAAAATGGG	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1945T>C	7.37:g.1533513A>G		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	240	240	1	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																			A|0.379;G|0.621	0.621	strong		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			G	1533513	A	G	1533513	2	3	22	1	0	0	0	0	0	0	0	1	7775	11	1	2		2	INTS1	7	1533513	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45196	1533513	157605150	4047	9155										
INTS1	26173	hgsc.bcm.edu	37	chr7	1538174	1538174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccaggttgtccttgtgCgcgctcagcagctccctggg	14	14	1	0	rs143126716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1538174C>T	ENST00000404767.3	-	10	1384	c.1299G>A	c.(1297-1299)gcG>gcA	p.A433A	INTS1_ENST00000389470.4_Silent_p.A561A|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	433					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTCCTTGTGCGCGCTCAGCA	0.652													C|||	63	0.0125799	0.0431	0.0086	5008	,	,		10067	0.0		0.0	False		,,,				2504	0.0				p.A433A		Atlas-SNP	.											INTS1,NS,carcinoma,-1,1	INTS1	145	1	0			c.G1299A						PASS	.			125,4145		4,117,2014	85	97	93		1299	-9.7	0	7	dbSNP_134	93	6,8488		0,6,4241	no	coding-synonymous	INTS1	NM_001080453.2		4,123,6255	TT,TC,CC		0.0706,2.9274,1.0263		433/2191	1538174	131,12633	2135	4247	6382	SO:0001819	synonymous_variant	26173	exon10			CTTGTGCGCGCTC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1299G>A	7.37:g.1538174C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	166	166	1	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																			C|0.988;T|0.012	0.012	strong		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1538174	C	T	1538174	2	4	22	1	0	0	0	0	0	0	0	1	7775	755	27	1		1	INTS1	7	1538174	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4661	1538174	157600489	4048	9156										
INTS1	26173	hgsc.bcm.edu	37	chr7	1542697	1542697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgaggcactggacaacgcGgccgccgcatcccgcttgcg	14	17	0	0	rs3752714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1542697G>A	ENST00000404767.3	-	3	274	c.189C>T	c.(187-189)gcC>gcT	p.A63A	INTS1_ENST00000389470.4_Silent_p.A191A|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	63	Poly-Ala.				inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGACAACGCGGCCGCCGCAT	0.667													A|||	2933	0.585663	0.7746	0.4179	5008	,	,		15450	0.7123		0.4642	False		,,,				2504	0.4438				p.A63A		Atlas-SNP	.											INTS1,NS,carcinoma,0,1	INTS1	145	1	0			c.C189T						PASS	.			2854,1190		1030,794,198	55	69	65		189	-3.4	0	7	dbSNP_107	65	3508,4828		740,2028,1400	no	coding-synonymous	INTS1	NM_001080453.2		1770,2822,1598	AA,AG,GG		42.0825,29.4263,48.6107		63/2191	1542697	6362,6018	2022	4168	6190	SO:0001819	synonymous_variant	26173	exon3			CAACGCGGCCGCC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.189C>T	7.37:g.1542697G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	137	137	1	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																			G|0.412;A|0.588	0.588	strong		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			A	1542697	G	A	1542697	2	1	22	1	0	0	0	0	0	0	0	1	7775	1103	39	1		1	INTS1	7	1542697	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4523	1542697	157595966	4049	9157										
INTS1	26173	hgsc.bcm.edu	37	chr7	1542814	1542814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagagcaatgaagtctccTgggggagggtgccctgcaga	15	11	1	3	rs3752715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:1542814T>C	ENST00000404767.3	-	3	157	c.72A>G	c.(70-72)ccA>ccG	p.P24P	INTS1_ENST00000389470.4_Silent_p.P152P|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	24					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGAAGTCTCCTGGGGGAGGGT	0.557													C|||	2928	0.584665	0.7746	0.4179	5008	,	,		18049	0.7063		0.4642	False		,,,				2504	0.4448				p.P24P		Atlas-SNP	.											INTS1,colon,carcinoma,-1,1	INTS1	145	1	0			c.A72G						PASS	.			2592,1218		883,826,196	44	49	48		72	-9.5	0	7	dbSNP_107	48	3412,4838		681,2050,1394	no	coding-synonymous	INTS1	NM_001080453.2		1564,2876,1590	CC,CT,TT		41.3576,31.9685,49.7844		24/2191	1542814	6004,6056	1905	4125	6030	SO:0001819	synonymous_variant	26173	exon3			GTCTCCTGGGGGA	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.72A>G	7.37:g.1542814T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	137	136	0.992701	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																			T|0.412;C|0.588	0.588	strong		0.557	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			C	1542814	T	C	1542814	2	2	22	1	0	0	0	0	0	0	0	1	7775	1567	55	3		3	INTS1	7	1542814	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	117	1542814	157595849	4050	9158										
MAD1L1	8379	hgsc.bcm.edu	37	chr7	2257612	2257612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccttaatctgctgctcGtggtctgctcttgcttcttg	8	13	5	0	rs6951493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2257612G>A	ENST00000406869.1	-	7	1220	c.663C>T	c.(661-663)caC>caT	p.H221H	MAD1L1_ENST00000265854.7_Silent_p.H221H|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000402746.1_Silent_p.H129H|MAD1L1_ENST00000399654.2_Silent_p.H221H			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	221					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGCTGCTCGTGGTCTGCTC	0.517													G|||	1831	0.365615	0.2587	0.389	5008	,	,		18844	0.5139		0.338	False		,,,				2504	0.3691				p.H221H		Atlas-SNP	.											.	MAD1L1	81	.	0			c.C663T						PASS	.	G	,,	1291,2991		224,843,1074	244	269	260		663,663,663	-10.8	0	7	dbSNP_116	260	2982,5504		551,1880,1812	no	coding-synonymous,coding-synonymous,coding-synonymous	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	775,2723,2886	AA,AG,GG		35.1402,30.1495,33.4665	,,	221/719,221/719,221/719	2257612	4273,8495	2141	4243	6384	SO:0001819	synonymous_variant	8379	exon7			CTGCTCGTGGTCT	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.663C>T	7.37:g.2257612G>A		Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	263	263	1	NM_003550	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1																																																																																			G|0.639;A|0.361	0.361	strong		0.517	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	2257612	G	A	2257612	2	1	22	1	0	0	0	0	0	0	0	1	9147	1136	40	1		1	MAD1L1	7	2257612	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	714798	2257612	156881051	4051	9159										
FTSJ2	8379	hgsc.bcm.edu	37	chr7	2275177	2275177	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagatctaccccaagcacGaagccaacaggagagctggg	12	11	1	3	rs11547272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2275177G>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.F13F|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000440306.2_Missense_Mutation_p.S142L|FTSJ2_ENST00000242257.8_Silent_p.F107F|MAD1L1_ENST00000402746.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCCAAGCACGAAGCCAACAG	0.448													G|||	73	0.0145767	0.0537	0.0029	5008	,	,		22055	0.0		0.0	False		,,,				2504	0.0				p.F107F		Atlas-SNP	.											.	FTSJ2	22	.	0			c.C321T						PASS	.	G		246,4160	136.9+/-172.8	7,232,1964	49	47	48		321	-5.2	0.8	7	dbSNP_120	48	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FTSJ2	NM_013393.1		7,235,6261	AA,AG,GG		0.0349,5.5833,1.9145		107/247	2275177	249,12757	2203	4300	6503	SO:0001631	upstream_gene_variant	29960	exon3			AAGCACGAAGCCA	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275177G>A	Exception_encountered	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	29	0.690476	NM_013393	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1	30	0.013736263736263736	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	0	0.0	G	15.89	2.967220	0.53507	0.055833	3.49E-4	ENSG00000122687	ENST00000440306	T	0.30714	1.52	5.47	-5.18	0.02840	.	.	.	.	.	T	0.05181	0.0138	.	.	.	0.22710	N	0.99883	.	.	.	.	.	.	T	0.39961	-0.9588	6	0.87932	D	0	.	14.6466	0.68764	0.5757:0.0:0.4243:0.0	rs11547272	.	.	.	L	142	ENSP00000392343:S142L	ENSP00000392343:S142L	S	-	2	0	FTSJ2	2241703	0.001000	0.12720	0.835000	0.33067	0.981000	0.71138	-1.403000	0.02497	-1.417000	0.02017	-0.137000	0.14449	TCG	G|0.982;C|0.000;A|0.018	0.018	strong		0.448	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	2275177	G	A	2275177	1	1	22	0	1	0	0	0	0	0	0	0	6088	1049	37	1		1	FTSJ2	7	2275177	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17565	2275177	156863486	4052	9160										
CHST12	55501	hgsc.bcm.edu	37	chr7	2472599	2472599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctacgactggtccccgCgcgacgcccggcgcagccca	14	18	0	0	rs17132395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2472599C>A	ENST00000258711.6	+	2	460	c.325C>A	c.(325-327)Cgc>Agc	p.R109S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	109			R -> S (in dbSNP:rs17132395).		carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGGTCCCCGCGCGACGCCCG	0.711													C|||	141	0.028155	0.0976	0.0159	5008	,	,		13900	0.0		0.001	False		,,,				2504	0.0				p.R109S		Atlas-SNP	.											.	CHST12	39	.	0			c.C325A						PASS	.	C	SER/ARG	357,4031		15,327,1852	19	25	23		325	5	0	7	dbSNP_123	23	2,8568		0,2,4283	no	missense	CHST12	NM_018641.4	110	15,329,6135	AA,AC,CC		0.0233,8.1358,2.7705	benign	109/415	2472599	359,12599	2194	4285	6479	SO:0001583	missense	55501	exon2			TCCCCGCGCGACG	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.325C>A	7.37:g.2472599C>A	ENSP00000258711:p.Arg109Ser	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	10	8	0.8	NM_018641	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	CCDS5333.1	53	0.024267399267399268	48	0.0975609756097561	5	0.013812154696132596	0	0.0	0	0.0	C	4.045	0.006027	0.07866	0.081358	2.33E-4	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61742	0.08;0.92	4.98	4.98	0.66077	.	0.798952	0.11372	N	0.570741	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.00870	-1.1533	10	0.08837	T	0.75	1.0898	13.2418	0.60002	0.1591:0.8409:0.0:0.0	rs17132395;rs17132395	109	Q9NRB3	CHSTC_HUMAN	S	109	ENSP00000258711:R109S;ENSP00000411207:R109S	ENSP00000258711:R109S	R	+	1	0	CHST12	2439125	0.002000	0.14202	0.022000	0.16811	0.456000	0.32438	1.538000	0.36094	2.304000	0.77564	0.561000	0.74099	CGC	C|0.976;A|0.024	0.024	strong		0.711	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		A	2472599	C	A	2472599	3	1	22	1	0	0	0	0	1	0	0	0	3400	768	27	4	327	4	CHST12	7	2472599	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	197422	2472599	156666064	4053	9161										
CHST12	55501	hgsc.bcm.edu	37	chr7	2472662	2472662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggaggagcgtgctgcggGgcttctgcgccaactccagc	16	13	1	0	rs11537796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2472662G>C	ENST00000258711.6	+	2	523	c.388G>C	c.(388-390)Ggc>Cgc	p.G130R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	130					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CGTGCTGCGGGGCTTCTGCGC	0.701													G|||	141	0.028155	0.0968	0.0159	5008	,	,		14367	0.0		0.002	False		,,,				2504	0.0				p.G130R		Atlas-SNP	.											.	CHST12	39	.	0			c.G388C						PASS	.	G	ARG/GLY	361,4045		25,311,1867	35	37	37		388	4.2	0.3	7	dbSNP_120	37	2,8598		0,2,4298	yes	missense	CHST12	NM_018641.4	125	25,313,6165	CC,CG,GG		0.0233,8.1934,2.791	benign	130/415	2472662	363,12643	2203	4300	6503	SO:0001583	missense	55501	exon2			CTGCGGGGCTTCT	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.388G>C	7.37:g.2472662G>C	ENSP00000258711:p.Gly130Arg	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_018641	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	CCDS5333.1	55	0.025183150183150184	48	0.0975609756097561	5	0.013812154696132596	0	0.0	2	0.002638522427440633	G	2.483	-0.319175	0.05386	0.081934	2.33E-4	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.60548	0.18;1.03	5.09	4.18	0.49190	.	0.697828	0.14301	N	0.328271	T	0.01387	0.0045	N	0.22421	0.69	0.25416	N	0.988316	B	0.19583	0.037	B	0.18871	0.023	T	0.00978	-1.1493	10	0.17832	T	0.49	-6.2778	13.8779	0.63665	0.0:0.2917:0.7083:0.0	rs11537796	130	Q9NRB3	CHSTC_HUMAN	R	130	ENSP00000258711:G130R;ENSP00000411207:G130R	ENSP00000258711:G130R	G	+	1	0	CHST12	2439188	0.021000	0.18746	0.287000	0.24848	0.689000	0.40095	1.514000	0.35834	1.095000	0.41419	0.561000	0.74099	GGC	G|0.970;C|0.030	0.030	strong		0.701	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		C	2472662	G	C	2472662	3	2	22	1	0	0	0	0	1	0	0	0	3400	1232	43	4	390	4	CHST12	7	2472662	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63	2472662	156666001	4054	9162										
LFNG	3955	hgsc.bcm.edu	37	chr7	2566484	2566484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaggtgacgctgagctaCggtatgtttgaaaacaagcg	12	9	0	3	rs61743870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2566484C>T	ENST00000222725.5	+	7	1022	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	LFNG_ENST00000359574.3_Silent_p.Y334Y|LFNG_ENST00000402045.1_Silent_p.Y205Y|LFNG_ENST00000402506.1_Silent_p.Y263Y|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000338732.3_Silent_p.Y205Y	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	334					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGCTGAGCTACGGTATGTTTG	0.672													C|||	402	0.0802716	0.0537	0.0634	5008	,	,		16295	0.1399		0.0239	False		,,,				2504	0.1247				p.Y334Y		Atlas-SNP	.											.	LFNG	57	.	0			c.C1002T						PASS	.	C	,,,	202,4204	116.7+/-154.6	3,196,2004	32	33	33		1002,1002,789,615	-7.6	0.9	7	dbSNP_129	33	174,8422	75.7+/-138.4	0,174,4124	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	,,,	3,370,6128	TT,TC,CC		2.0242,4.5847,2.8919	,,,	334/380,334/362,263/309,205/251	2566484	376,12626	2203	4298	6501	SO:0001819	synonymous_variant	3955	exon7			GAGCTACGGTATG	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.1002C>T	7.37:g.2566484C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	115	50	0.434783	NM_001040167	B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	CCDS34587.1																																																																																			C|0.965;T|0.035	0.035	strong		0.672	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		T	2566484	C	T	2566484	2	4	22	1	0	0	0	0	0	0	0	1	8737	547	19	1		1	LFNG	7	2566484	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93822	2566484	156572179	4055	9163										
C7orf27	221927	hgsc.bcm.edu	37	chr7	2578181	2578181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcggccccaaagtctggCccaggaacacgagggccagc	15	15	1	0	rs61627394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2578181C>T	ENST00000340611.4	-	14	2244	c.1988G>A	c.(1987-1989)gGc>gAc	p.G663D	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	663					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CAAAGTCTGGCCCAGGAACAC	0.711													C|||	584	0.116613	0.0877	0.0591	5008	,	,		14377	0.2748		0.0199	False		,,,				2504	0.1329				p.G663D		Atlas-SNP	.											.	BRAT1	57	.	0			c.G1988A						PASS	.	C	ASP/GLY	280,4114		10,260,1927	13	16	15		1988	-8.4	0	7	dbSNP_129	15	88,8492		0,88,4202	yes	missense	BRAT1	NM_152743.3	94	10,348,6129	TT,TC,CC		1.0256,6.3723,2.8364	benign	663/822	2578181	368,12606	2197	4290	6487	SO:0001583	missense	221927	exon14			GTCTGGCCCAGGA	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1988G>A	7.37:g.2578181C>T	ENSP00000339637:p.Gly663Asp	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	33	17	0.515152	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	220	0.10073260073260074	38	0.07723577235772358	11	0.03038674033149171	156	0.2727272727272727	15	0.01978891820580475	C	1.011	-0.687781	0.03328	0.063723	0.010256	ENSG00000106009	ENST00000340611	T	0.68765	-0.35	5.33	-8.42	0.00957	Armadillo-like helical (1);	0.814283	0.11368	N	0.571237	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.16802	0.019	B	0.11329	0.006	T	0.13764	-1.0497	9	0.12103	T	0.63	-0.4834	1.5988	0.02669	0.3633:0.0785:0.2464:0.3118	rs61627394;rs61745778	663	Q6PJG6	BRAT1_HUMAN	D	663	ENSP00000339637:G663D	ENSP00000339637:G663D	G	-	2	0	BRAT1	2544707	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.036000	0.01421	-1.585000	0.01634	0.561000	0.74099	GGC	C|0.936;T|0.064	0.064	strong		0.711	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		T	2578181	C	T	2578181	3	4	22	1	0	0	0	0	1	0	0	0	2382	739	26	2	481	2	C7orf27	7	2578181	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11697	2578181	156560482	4056	9164										
IQCE	23288	hgsc.bcm.edu	37	chr7	2611908	2611908	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcactcctgactgtctGacagacaccttcagagtgaa	11	12	2	5	rs147584030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2611908G>C	ENST00000402050.2	+	5	526	c.342G>C	c.(340-342)ctG>ctC	p.L114L	IQCE_ENST00000404984.1_Silent_p.L63L|IQCE_ENST00000438376.2_Silent_p.L98L|IQCE_ENST00000325979.7_Silent_p.L49L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	114						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTGACTGTCTGACAGACACCT	0.607													G|||	42	0.00838658	0.0303	0.0029	5008	,	,		18614	0.0		0.0	False		,,,				2504	0.0				p.L114L		Atlas-SNP	.											.	IQCE	66	.	0			c.G342C						PASS	.	G	,	116,3980		1,114,1933	51	55	54		294,342	3.3	0	7	dbSNP_134	54	4,8406		0,4,4201	no	coding-synonymous,coding-synonymous	IQCE	NM_001100390.1,NM_152558.3	,	1,118,6134	CC,CG,GG		0.0476,2.832,0.9595	,	98/680,114/696	2611908	120,12386	2048	4205	6253	SO:0001819	synonymous_variant	23288	exon5			CTGTCTGACAGAC	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.342G>C	7.37:g.2611908G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	65	29	0.446154	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	CCDS43542.1																																																																																			G|0.994;C|0.006	0.006	strong		0.607	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		C	2611908	G	C	2611908	2	2	22	1	0	0	0	0	0	0	0	1	7806	1277	45	4		4	IQCE	7	2611908	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33727	2611908	156526755	4057	9165										
AMZ1	155185	hgsc.bcm.edu	37	chr7	2752026	2752026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccaggaggcgggggagccGtcagtgtgggaggacacccc	19	11	1	0	rs61743920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2752026G>A	ENST00000312371.4	+	7	1379	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.V281I	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	337							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGGGGAGCCGTCAGTGTGGG	0.672													G|||	54	0.0107827	0.0386	0.0029	5008	,	,		15627	0.001		0.0	False		,,,				2504	0.0				p.P337P		Atlas-SNP	.											.	AMZ1	41	.	0			c.G1011A						PASS	.	G		160,4240	98.5+/-137.1	4,152,2044	23	28	26		1011	3	0	7	dbSNP_129	26	7,8591	5.7+/-21.5	0,7,4292	no	coding-synonymous	AMZ1	NM_133463.1		4,159,6336	AA,AG,GG		0.0814,3.6364,1.2848		337/499	2752026	167,12831	2200	4299	6499	SO:0001819	synonymous_variant	155185	exon7			GGAGCCGTCAGTG	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1011G>A	7.37:g.2752026G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	40	22	0.55	NM_133463	B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	CCDS34589.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	G	5.330	0.246159	0.10130	0.036364	8.14E-4	ENSG00000174945	ENST00000407112	T	0.35421	1.31	4.85	2.96	0.34315	.	.	.	.	.	T	0.05273	0.0140	.	.	.	0.09310	N	0.999999	B	0.20459	0.045	B	0.13407	0.009	T	0.16808	-1.0390	8	0.23302	T	0.38	-30.2079	7.4751	0.27371	0.0927:0.1681:0.7392:0.0	rs61743920	281	B3KRS0	.	I	281	ENSP00000386020:V281I	ENSP00000386020:V281I	V	+	1	0	AMZ1	2718552	0.000000	0.05858	0.027000	0.17364	0.064000	0.16182	-0.564000	0.05936	0.412000	0.25729	0.462000	0.41574	GTC	G|0.988;A|0.012	0.012	strong		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		A	2752026	G	A	2752026	2	1	22	1	0	0	0	0	0	0	0	1	596	1132	40	1		1	AMZ1	7	2752026	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	140118	2752026	156386637	4058	9166										
AMZ1	155185	hgsc.bcm.edu	37	chr7	2752487	2752487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcagagtcggccccccGtccctgggatggggaagaga	16	12	0	3	rs7776970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2752487G>A	ENST00000312371.4	+	7	1840	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	491			R -> H (in dbSNP:rs7776970).				metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TCGGCCCCCCGTCCCTGGGAT	0.627													G|||	1610	0.321486	0.5552	0.2695	5008	,	,		18006	0.0933		0.341	False		,,,				2504	0.2577				p.R491H		Atlas-SNP	.											.	AMZ1	41	.	0			c.G1472A						PASS	.	G	HIS/ARG	2154,2178		582,990,594	25	28	27		1472	2.6	0	7	dbSNP_116	27	2606,5858		446,1714,2072	yes	missense	AMZ1	NM_133463.1	29	1028,2704,2666	AA,AG,GG		30.7892,49.723,37.1991	benign	491/499	2752487	4760,8036	2166	4232	6398	SO:0001583	missense	155185	exon7			CCCCCCGTCCCTG	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1472G>A	7.37:g.2752487G>A	ENSP00000308149:p.Arg491His	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	103	51	0.495146	NM_133463	B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	CCDS34589.1	664	0.304029304029304	268	0.5447154471544715	91	0.2513812154696133	51	0.08916083916083917	254	0.33509234828496043	G	9.366	1.069149	0.20147	0.49723	0.307892	ENSG00000174945	ENST00000312371	T	0.22539	1.95	4.49	2.57	0.30868	.	1.324050	0.04846	N	0.441400	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45745	-0.9240	9	0.37606	T	0.19	-1.1562	5.7029	0.17893	0.1654:0.1793:0.6552:0.0	rs7776970;rs10375652;rs61189668;rs7776970	491	Q400G9	AMZ1_HUMAN	H	491	ENSP00000308149:R491H	ENSP00000308149:R491H	R	+	2	0	AMZ1	2719013	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.428000	0.34892	0.962000	0.38057	0.561000	0.74099	CGT	G|0.664;A|0.336	0.336	strong		0.627	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		A	2752487	G	A	2752487	3	1	22	1	0	0	0	0	1	0	0	0	596	1145	40	1	1494	1	AMZ1	7	2752487	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	461	2752487	156386176	4059	9167										
GNA12	2768	hgsc.bcm.edu	37	chr7	2834577	2834577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccagctgaaactcgctTctccggctgaaagcctccct	7	17	2	2	rs2230878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2834577T>C	ENST00000275364.3	-	2	672	c.510A>G	c.(508-510)agA>agG	p.R170R	GNA12_ENST00000544127.1_Silent_p.R94R|GNA12_ENST00000407904.3_Silent_p.R111R	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	170					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GAAACTCGCTTCTCCGGCTGA	0.547													C|||	99	0.0197684	0.0514	0.0101	5008	,	,		18315	0.0		0.0159	False		,,,				2504	0.0082				p.R170R		Atlas-SNP	.											.	GNA12	35	.	0			c.A510G						PASS	.	C		208,4198	807.3+/-415.9	7,194,2002	66	64	65		510	2.7	1	7	dbSNP_123	65	77,8523	815.8+/-406.9	1,75,4224	yes	coding-synonymous	GNA12	NM_007353.2		8,269,6226	CC,CT,TT		0.8953,4.7208,2.1913		170/382	2834577	285,12721	2203	4300	6503	SO:0001819	synonymous_variant	2768	exon2			CTCGCTTCTCCGG	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.510A>G	7.37:g.2834577T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	96	40	0.416667	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	ENST00000275364.3	37	CCDS5335.1																																																																																			T|0.980;C|0.020	0.020	strong		0.547	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		C	2834577	T	C	2834577	2	2	22	1	0	0	0	0	0	0	0	1	6500	1780	62	2		2	GNA12	7	2834577	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82090	2834577	156304086	4060	9168										
GNA12	2768	hgsc.bcm.edu	37	chr7	2834754	2834754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatgccaagcttatctcgTgcatcaacaagaacccttga	8	11	2	2	rs2230877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2834754T>C	ENST00000275364.3	-	2	495	c.333A>G	c.(331-333)gcA>gcG	p.A111A	GNA12_ENST00000544127.1_Silent_p.A35A|GNA12_ENST00000407904.3_Silent_p.A52A	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	111					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCTTATCTCGTGCATCAACAA	0.468													T|||	99	0.0197684	0.0514	0.0101	5008	,	,		21010	0.0		0.0159	False		,,,				2504	0.0082				p.A111A		Atlas-SNP	.											.	GNA12	35	.	0			c.A333G						PASS	.	T		207,4199	127.8+/-164.7	6,195,2002	131	128	129		333	-11.2	0.5	7	dbSNP_123	129	77,8523	45.8+/-104.6	1,75,4224	no	coding-synonymous	GNA12	NM_007353.2		7,270,6226	CC,CT,TT		0.8953,4.6981,2.1836		111/382	2834754	284,12722	2203	4300	6503	SO:0001819	synonymous_variant	2768	exon2			ATCTCGTGCATCA	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.333A>G	7.37:g.2834754T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	90	47	0.522222	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	ENST00000275364.3	37	CCDS5335.1																																																																																			T|0.980;C|0.020	0.020	strong		0.468	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		C	2834754	T	C	2834754	2	2	22	1	0	0	0	0	0	0	0	1	6500	1683	59	2		2	GNA12	7	2834754	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	177	2834754	156303909	4061	9169										
CARD11	84433	hgsc.bcm.edu	37	chr7	2957005	2957005	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgttgaaagcgcttcttcTggctgcagggtgttctgaaa	12	8	3	2	rs3735124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2957005T>C	ENST00000396946.4	-	20	3025	c.2622A>G	c.(2620-2622)ccA>ccG	p.P874P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	874					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCGCTTCTTCTGGCTGCAGGG	0.567			Mis		DLBCL								C|||	2319	0.463059	0.5787	0.4207	5008	,	,		14294	0.6101		0.2087	False		,,,				2504	0.4468				p.P874P		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11	339	.	0			c.A2622G						PASS	.	C		2343,2063	562.8+/-381.0	613,1117,473	37	49	45		2622	-10	0.1	7	dbSNP_107	45	1779,6819	731.4+/-406.8	165,1449,2685	no	coding-synonymous	CARD11	NM_032415.4		778,2566,3158	CC,CT,TT		20.6909,46.8225,31.6979		874/1155	2957005	4122,8882	2203	4299	6502	SO:0001819	synonymous_variant	84433	exon20			TTCTTCTGGCTGC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2622A>G	7.37:g.2957005T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																			T|0.633;C|0.367	0.367	strong		0.567	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2957005	T	C	2957005	2	2	22	1	0	0	0	0	0	0	0	1	2645	1567	55	3		3	CARD11	7	2957005	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	122251	2957005	156181658	4062	9170										
CARD11	84433	hgsc.bcm.edu	37	chr7	2959172	2959172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctggctggagatgttcaGgttcagccggatgtagaacg	15	8	2	2	rs3735126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2959172G>A	ENST00000396946.4	-	18	2747	c.2344C>T	c.(2344-2346)Ctg>Ttg	p.L782L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	782					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGATGTTCAGGTTCAGCCGG	0.592			Mis		DLBCL								G|||	818	0.163339	0.2882	0.1527	5008	,	,		20869	0.1548		0.0288	False		,,,				2504	0.1493				p.L782L		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11	339	.	0			c.C2344T						PASS	.	G		1177,3229	412.6+/-336.2	157,863,1183	123	78	93		2344	4.2	1	7	dbSNP_107	93	183,8417	81.8+/-144.4	1,181,4118	no	coding-synonymous	CARD11	NM_032415.4		158,1044,5301	AA,AG,GG		2.1279,26.7136,10.4567		782/1155	2959172	1360,11646	2203	4300	6503	SO:0001819	synonymous_variant	84433	exon18			TGTTCAGGTTCAG	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2344C>T	7.37:g.2959172G>A		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	195	99	0.507692	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																			G|0.880;A|0.120	0.120	strong		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2959172	G	A	2959172	2	1	22	1	0	0	0	0	0	0	0	1	2645	991	35	2		2	CARD11	7	2959172	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2167	2959172	156179491	4063	9171										
CARD11	84433	hgsc.bcm.edu	37	chr7	2969689	2969689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagggctggcgtccgtgccTtcttcctcgtgccccttggc	12	16	1	0	rs41515445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:2969689T>G	ENST00000396946.4	-	12	1993	c.1590A>C	c.(1588-1590)gaA>gaC	p.E530D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	530					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGTCCGTGCCTTCTTCCTCGT	0.622			Mis		DLBCL								T|||	141	0.028155	0.1036	0.0058	5008	,	,		16650	0.0		0.0	False		,,,				2504	0.0				p.E530D		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11	339	.	0			c.A1590C						PASS	.	T	ASP/GLU	398,4008	195.3+/-220.0	17,364,1822	115	78	91		1590	-5.4	0	7	dbSNP_127	91	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CARD11	NM_032415.4	45	17,366,6120	GG,GT,TT		0.0233,9.0331,3.0755	benign	530/1155	2969689	400,12606	2203	4300	6503	SO:0001583	missense	84433	exon12			CGTGCCTTCTTCC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1590A>C	7.37:g.2969689T>G	ENSP00000380150:p.Glu530Asp	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	123	62	0.504065	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	50	0.022893772893772892	46	0.09349593495934959	4	0.011049723756906077	0	0.0	0	0.0	T	4.090	0.014638	0.07959	0.090331	2.33E-4	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.30981	1.51;2.48	3.85	-5.41	0.02648	.	1.090360	0.06781	N	0.785380	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23868	-1.0176	10	0.02654	T	1	-2.0525	5.5885	0.17287	0.3319:0.0:0.5015:0.1665	rs41515445;rs58644294	530	Q9BXL7	CAR11_HUMAN	D	530;2	ENSP00000380150:E530D;ENSP00000347695:E2D	ENSP00000347695:E2D	E	-	3	2	CARD11	2936215	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.891000	0.04135	-0.959000	0.03618	0.459000	0.35465	GAA	T|0.972;G|0.028	0.028	strong		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2969689	T	G	2969689	3	3	22	1	0	0	0	0	1	0	0	0	2645	1606	56	5	1930	5	CARD11	7	2969689	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10517	2969689	156168974	4064	9172										
SDK1	221935	hgsc.bcm.edu	37	chr7	3991479	3991479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtccgcggacaccgggccAtacgtctgcgaggcggcgct	15	15	1	0	rs6961589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:3991479A>G	ENST00000404826.2	+	7	1216	c.1077A>G	c.(1075-1077)ccA>ccG	p.P359P	SDK1_ENST00000389531.3_Silent_p.P359P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	359	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCGGGCCATACGTCTGCG	0.602													G|||	341	0.0680911	0.2398	0.0303	5008	,	,		16870	0.0		0.002	False		,,,				2504	0.001				p.P359P		Atlas-SNP	.											.	SDK1	361	.	0			c.A1077G						PASS	.	G		958,3448	731.8+/-410.3	104,750,1349	52	52	52		1077	0.9	0	7	dbSNP_116	52	9,8591	817.5+/-406.9	0,9,4291	no	coding-synonymous	SDK1	NM_152744.3		104,759,5640	GG,GA,AA		0.1047,21.7431,7.435		359/2214	3991479	967,12039	2203	4300	6503	SO:0001819	synonymous_variant	221935	exon7			CGGGCCATACGTC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1077A>G	7.37:g.3991479A>G		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	38	15	0.394737	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1	110	0.05036630036630037	102	0.2073170731707317	6	0.016574585635359115	0	0.0	2	0.002638522427440633	G	0.457	-0.890886	0.02491	0.217431	0.001047	ENSG00000146555	ENST00000426596	.	.	.	4.87	0.937	0.19494	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22253	P	0.999251882	.	.	.	.	.	.	T	0.24190	-1.0167	3	.	.	.	.	3.246	0.06797	0.1411:0.2537:0.474:0.1313	rs6961589;rs17134087;rs6961589	.	.	.	R	78	.	.	H	+	2	0	SDK1	3958005	0.838000	0.29461	0.001000	0.08648	0.000000	0.00434	1.014000	0.29950	-0.265000	0.09352	-2.011000	0.00436	CAT	A|0.926;G|0.074	0.074	strong		0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		G	3991479	A	G	3991479	2	3	22	1	0	0	0	0	0	0	0	1	13968	204	8	2		2	SDK1	7	3991479	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1021790	3991479	155147184	4065	9173										
SDK1	221935	hgsc.bcm.edu	37	chr7	4116697	4116697	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcacaccctgaacagcacGacgcacgagtacaagatcca	8	15	0	2	rs61735695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:4116697G>A	ENST00000404826.2	+	21	3217	c.3078G>A	c.(3076-3078)acG>acA	p.T1026T	SDK1_ENST00000389531.3_Silent_p.T1026T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1026	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAACAGCACGACGCACGAGT	0.567													G|||	56	0.0111821	0.0408	0.0029	5008	,	,		21381	0.0		0.0	False		,,,				2504	0.0				p.T1026T		Atlas-SNP	.											SDK1,NS,carcinoma,+1,2	SDK1	361	2	0			c.G3078A						PASS	.	G		134,4272	96.7+/-135.4	2,130,2071	171	132	145		3078	-6.5	0	7	dbSNP_129	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		2,131,6370	AA,AG,GG		0.0116,3.0413,1.038		1026/2214	4116697	135,12871	2203	4300	6503	SO:0001819	synonymous_variant	221935	exon21			CAGCACGACGCAC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3078G>A	7.37:g.4116697G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																			G|0.990;A|0.010	0.010	strong		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4116697	G	A	4116697	2	1	22	1	0	0	0	0	0	0	0	1	13968	1045	37	1		1	SDK1	7	4116697	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	125218	4116697	155021966	4066	9174										
FOXK1	221937	hgsc.bcm.edu	37	chr7	4802035	4802035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagcccagtggtgctgtAaccacaccggctggagtgat	15	10	0	1	rs1053753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:4802035A>G	ENST00000328914.4	+	9	2142	c.2142A>G	c.(2140-2142)gtA>gtG	p.V714V	FOXK1_ENST00000446823.1_Silent_p.V551V	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTGGTGCTGTAACCACACCGG	0.701													G|||	1465	0.292532	0.6785	0.121	5008	,	,		12597	0.0704		0.1471	False		,,,				2504	0.271				p.V714V		Atlas-SNP	.											.	FOXK1	64	.	0			c.A2142G						PASS	.	G		2104,2054		524,1056,499	12	14	14		2142	-5.3	0	7	dbSNP_86	14	1140,7002		97,946,3028	no	coding-synonymous	FOXK1	NM_001037165.1		621,2002,3527	GG,GA,AA		14.0015,49.3987,26.374		714/734	4802035	3244,9056	2079	4071	6150	SO:0001819	synonymous_variant	221937	exon9			TGCTGTAACCACA	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.2142A>G	7.37:g.4802035A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_001037165		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																			A|0.728;G|0.272	0.272	strong		0.701	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			G	4802035	A	G	4802035	2	3	22	1	0	0	0	0	0	0	0	1	6014	349	13	2		2	FOXK1	7	4802035	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	685338	4802035	154336628	4067	9175										
PAPOLB	56903	hgsc.bcm.edu	37	chr7	4900095	4900095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatgctgagaatttcagaAttatctggcttttttagccc	7	8	3	2	rs1553960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:4900095A>G	ENST00000404991.1	-	1	1530	c.1344T>C	c.(1342-1344)aaT>aaC	p.N448N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	448					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.N448N(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAATTTCAGAATTATCTGGCT	0.383													G|||	2269	0.453075	0.5537	0.3559	5008	,	,		21126	0.4117		0.341	False		,,,				2504	0.544				p.N449N		Atlas-SNP	.											PAPOLB,NS,carcinoma,0,1	PAPOLB	93	1	1	Substitution - coding silent(1)	stomach(1)	c.T1347C						PASS	.	G	,	2235,2083		607,1021,531	101	107	105		,1347	1.5	0.6	7	dbSNP_88	105	3327,5245		628,2071,1587	yes	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	1235,3092,2118	GG,GA,AA		38.8124,48.2399,43.1497	,	,449/638	4900095	5562,7328	2159	4286	6445	SO:0001819	synonymous_variant	56903	exon1			TTCAGAATTATCT	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1344T>C	7.37:g.4900095A>G		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	252	126	0.5	NM_020144	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																				A|0.574;G|0.426	0.426	strong		0.383	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		G	4900095	A	G	4900095	2	3	22	1	0	0	0	0	0	0	0	1	11430	98	4	2		2	PAPOLB	7	4900095	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	98060	4900095	154238568	4068	9176										
PAPOLB	56903	hgsc.bcm.edu	37	chr7	4901385	4901385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgaggagacgccgtagcgAttcggcggcggcgccggctg	20	12	0	1	rs3750009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:4901385A>C	ENST00000404991.1	-	1	240	c.54T>G	c.(52-54)aaT>aaG	p.N18K	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	18					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGCCGTAGCGATTCGGCGGCG	0.672													C|||	2479	0.495008	0.708	0.3689	5008	,	,		13116	0.4117		0.341	False		,,,				2504	0.5409				p.N19K		Atlas-SNP	.											.	PAPOLB	93	.	0			c.T57G						PASS	.	C	,LYS/ASN	2462,1420		806,850,285	10	11	11		,57	3.2	0.2	7	dbSNP_107	11	3180,5066		607,1966,1550	yes	intron,missense	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,94	1413,2816,1835	CC,CA,AA		38.5642,36.5791,46.5204	,benign	,19/638	4901385	5642,6486	1941	4123	6064	SO:0001583	missense	56903	exon1			GTAGCGATTCGGC	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.54T>G	7.37:g.4901385A>C	ENSP00000384700:p.Asn18Lys	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	23	12	0.521739	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		948	0.4340659340659341	356	0.7235772357723578	128	0.35359116022099446	208	0.36363636363636365	256	0.33773087071240104	C	0.005	-2.186441	0.00305	0.634209	0.385642	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.25	0.37280	.	.	.	.	.	T	0.00012	0.0000	N	0.00025	-2.685	0.47621	P	5.300000000000304E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42015	-0.9476	7	0.02654	T	1	.	3.8434	0.08925	0.1922:0.6117:0.0:0.1961	rs3750009;rs9655434;rs57255641;rs3750009	19	A4D1Z6	.	K	18	.	ENSP00000384700:N18K	N	-	3	2	PAPOLB	4867911	1.000000	0.71417	0.189000	0.23252	0.003000	0.03518	0.699000	0.25586	0.718000	0.32166	-0.121000	0.15023	AAT	A|0.534;C|0.466	0.466	strong		0.672	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		C	4901385	A	C	4901385	3	2	22	1	0	0	0	0	1	0	0	0	11430	330	12	5	1860	5	PAPOLB	7	4901385	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1290	4901385	154237278	4069	9177										
RBAK	57786	hgsc.bcm.edu	37	chr7	5103773	5103773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcataagagagcttacatagGggagaagccctatgagtgga	13	6	1	3	rs35352738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5103773G>A	ENST00000353796.3	+	6	1010	c.686G>A	c.(685-687)gGg>gAg	p.G229E	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.G229E|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	229	Required for interaction with RB1.		G -> E (in dbSNP:rs35352738).		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GCTTACATAGGGGAGAAGCCC	0.368													G|||	207	0.0413339	0.1498	0.0115	5008	,	,		20379	0.0		0.001	False		,,,				2504	0.0				p.G229E		Atlas-SNP	.											.	RBAK	82	.	0			c.G686A						PASS	.	G	GLU/GLY,,GLU/GLY	576,3830	243.7+/-253.3	45,486,1672	44	46	45		686,,686	0.7	0	7	dbSNP_126	45	7,8593	3.7+/-12.6	0,7,4293	yes	missense,intron,missense	RBAK,RBAK-LOC389458	NM_001204456.1,NM_001204513.1,NM_021163.3	98,,98	45,493,5965	AA,AG,GG		0.0814,13.0731,4.4825	benign,,benign	229/715,,229/715	5103773	583,12423	2203	4300	6503	SO:0001583	missense	57786	exon6			ACATAGGGGAGAA	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.686G>A	7.37:g.5103773G>A	ENSP00000275423:p.Gly229Glu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	54	26	0.481481	NM_001204456	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	82	0.037545787545787544	76	0.15447154471544716	2	0.0055248618784530384	1	0.0017482517482517483	3	0.00395778364116095	G	2.134	-0.398395	0.04865	0.130731	8.14E-4	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.02050	4.48;4.48	3.67	0.7	0.18099	.	0.303658	0.23977	N	0.042715	T	0.00012	0.0000	M	0.71206	2.165	0.41778	D	0.989802	P	0.34522	0.455	B	0.30029	0.11	T	0.41963	-0.9479	8	.	.	.	.	4.7743	0.13171	0.1895:0.0:0.6347:0.1758	rs35352738;rs61753113	229	Q9NYW8	RBAK_HUMAN	E	229	ENSP00000275423:G229E;ENSP00000380120:G229E	.	G	+	2	0	RBAK	5070299	0.954000	0.32549	0.005000	0.12908	0.290000	0.27261	2.745000	0.47459	0.135000	0.18707	0.484000	0.47621	GGG	G|0.959;A|0.041	0.041	strong		0.368	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		A	5103773	G	A	5103773	3	1	22	1	0	0	0	0	1	0	0	0	13100	1232	43	2	700	2	RBAK	7	5103773	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	202388	5103773	154034890	4070	9178										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5352659	5352659	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaggaggaggaggaggaGgaggatgaggaggaggagga	26	0	0	1	rs138591330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5352659G>T	ENST00000430969.1	-	27	8211	c.7863C>A	c.(7861-7863)tcC>tcA	p.S2621S	TNRC18_ENST00000399537.4_Silent_p.S2621S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2621	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaggaggaggaggatgagg	0.652													G|||	2190	0.4373	0.5076	0.5274	5008	,	,		5586	0.246		0.508	False		,,,				2504	0.4029				p.S2621S		Atlas-SNP	.											TNRC18_ENST00000430969,NS,carcinoma,0,3	TNRC18	311	3	0			c.C7863A						PASS	.						5	8	7					7																	5352659		1382	3171	4553	SO:0001819	synonymous_variant	84629	exon27			GGAGGAGGAGGAT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7863C>A	7.37:g.5352659G>T		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	760	0.34798534798534797	201	0.40853658536585363	151	0.4171270718232044	104	0.18181818181818182	304	0.40105540897097625	N	0.009	-1.858244	0.00558	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.17	-1.59	0.08453	.	0.589271	0.12916	N	0.428578	T	0.00012	0.0000	.	.	.	0.34255	P	0.32071700000000003	.	.	.	.	.	.	T	0.40776	-0.9545	5	0.87932	D	0	.	4.5564	0.12138	0.3329:0.0:0.5125:0.1546	.	.	.	.	H	1134	.	ENSP00000382459:P1134H	P	-	2	0	TNRC18	5319185	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	0.742000	0.26216	-0.333000	0.08476	-1.713000	0.00713	CCT	G|0.653;T|0.347	0.347	strong		0.652	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5352659	G	T	5352659	2	4	22	1	0	0	0	0	0	0	0	1	16336	987	35	4		4	TNRC18	7	5352659	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248886	5352659	153786004	4071	9179										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5352731	5352731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgctgcagttacggcccccGgtgccgcagcccccgtcccc	12	21	0	0	rs114222264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5352731G>A	ENST00000430969.1	-	27	8139	c.7791C>T	c.(7789-7791)acC>acT	p.T2597T	TNRC18_ENST00000399537.4_Silent_p.T2597T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2597	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TACGGCCCCCGGTGCCGCAGC	0.682													G|||	191	0.038139	0.1407	0.0029	5008	,	,		7259	0.0		0.003	False		,,,				2504	0.0				p.T2597T		Atlas-SNP	.											.	TNRC18	311	.	0			c.C7791T						PASS	.	G		243,2437		9,225,1106	7	12	11		7791	-3.8	0	7	dbSNP_132	11	2,6206		0,2,3102	no	coding-synonymous	TNRC18	NM_001080495.2		9,227,4208	AA,AG,GG		0.0322,9.0672,2.7565		2597/2969	5352731	245,8643	1340	3104	4444	SO:0001819	synonymous_variant	84629	exon27			GCCCCCGGTGCCG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7791C>T	7.37:g.5352731G>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	23	8	0.347826	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.964;A|0.036	0.036	strong		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5352731	G	A	5352731	2	1	22	1	0	0	0	0	0	0	0	1	16336	1103	39	1		1	TNRC18	7	5352731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72	5352731	153785932	4072	9180										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5353252	5353252	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggtgatgaggggtgctgGggccagggaggtggcaggag	23	5	0	2	rs58819185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5353252G>C	ENST00000430969.1	-	27	7618	c.7270C>G	c.(7270-7272)Cca>Gca	p.P2424A	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2424A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2424	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGGGTGCTGGGGCCAGGGAG	0.726													G|||	321	0.0640974	0.2322	0.0144	5008	,	,		11967	0.0		0.004	False		,,,				2504	0.0				p.P2424A		Atlas-SNP	.											.	TNRC18	311	.	0			c.C7270G						PASS	.	G	ALA/PRO	536,2586		36,464,1061	11	12	11		7270	0.1	0.1	7	dbSNP_129	11	1,7155		0,1,3577	no	missense	TNRC18	NM_001080495.2	27	36,465,4638	CC,CG,GG		0.014,17.1685,5.2248	benign	2424/2969	5353252	537,9741	1561	3578	5139	SO:0001583	missense	84629	exon27			GTGCTGGGGCCAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7270C>G	7.37:g.5353252G>C	ENSP00000395538:p.Pro2424Ala	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	155	66	0.425806	NM_001080495	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	109|109	0.04990842490842491|0.04990842490842491	101|101	0.20528455284552846|0.20528455284552846	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	g|g	0|0	-2.731061|-2.731061	0.00089|0.00089	0.171685|0.171685	1.4E-4|1.4E-4	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.12147|.	2.71;2.71|.	3.33|3.33	0.0546|0.0546	0.14311|0.14311	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28004|0.28004	-1.0057|-1.0057	8|4	0.08381|.	T|.	0.77|.	.|.	8.9408|8.9408	0.35729|0.35729	0.0:0.4024:0.4584:0.1392|0.0:0.4024:0.4584:0.1392	rs58819185|rs58819185	2424|.	O15417|.	TNC18_HUMAN|.	A|R	2424|237	ENSP00000382452:P2424A;ENSP00000395538:P2424A|.	ENSP00000382452:P2424A|.	P|P	-|-	1|2	0|0	TNRC18|TNRC18	5319778|5319778	0.807000|0.807000	0.29009|0.29009	0.131000|0.131000	0.22000|0.22000	0.055000|0.055000	0.15305|0.15305	2.373000|2.373000	0.44266|0.44266	-0.063000|-0.063000	0.13065|0.13065	-3.803000|-3.803000	0.00020|0.00020	CCA|CCC	G|0.943;C|0.057	0.057	strong		0.726	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	5353252	G	C	5353252	3	2	22	1	0	0	0	0	1	0	0	0	16336	1232	43	4	1652	4	TNRC18	7	5353252	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	521	5353252	153785411	4073	9181										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5391702	5391702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactcgtccttcaggaattCttcgtcttcctctgagtccg	7	15	4	1	rs3801048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5391702C>G	ENST00000430969.1	-	17	5566	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1740Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1740							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTCAGGAATTCTTCGTCTTCC	0.507													C|||	950	0.189696	0.2526	0.1844	5008	,	,		19265	0.0625		0.2147	False		,,,				2504	0.2137				p.E1740Q		Atlas-SNP	.											.	TNRC18	311	.	0			c.G5218C						PASS	.	C	GLN/GLU	779,2357		85,609,874	39	36	37		5218	4	0	7	dbSNP_107	37	1211,5953		101,1009,2472	yes	missense	TNRC18	NM_001080495.2	29	186,1618,3346	GG,GC,CC		16.904,24.8406,19.3204	benign	1740/2969	5391702	1990,8310	1568	3582	5150	SO:0001583	missense	84629	exon17			GGAATTCTTCGTC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5218G>C	7.37:g.5391702C>G	ENSP00000395538:p.Glu1740Gln	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	142	142	1	NM_001080495	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	389	0.17811355311355312	130	0.26422764227642276	63	0.17403314917127072	30	0.05244755244755245	166	0.21899736147757257	c	14.58	2.578239	0.45902	0.248406	0.16904	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.48201	2.64;2.64;0.82	4.92	4.0	0.46444	.	0.946100	0.08634	N	0.916650	T	0.00012	0.0000	L	0.50333	1.59	0.48975	P	2.609999999999557E-4	B;B	0.20164	0.001;0.042	B;B	0.16722	0.005;0.016	T	0.14282	-1.0478	9	0.24483	T	0.36	.	14.7976	0.69889	0.0:0.8547:0.1453:0.0	rs3801048;rs10384278;rs60343046;rs3801048	795;1740	A8MSW5;O15417	.;TNC18_HUMAN	Q	1740;1740;795;230	ENSP00000382452:E1740Q;ENSP00000395538:E1740Q;ENSP00000395990:E230Q	ENSP00000382452:E1740Q	E	-	1	0	TNRC18	5358228	0.733000	0.28132	0.005000	0.12908	0.952000	0.60782	2.845000	0.48254	0.997000	0.38969	0.561000	0.74099	GAA	C|0.797;G|0.203	0.203	strong		0.507	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5391702	C	G	5391702	3	3	22	1	0	0	0	0	1	0	0	0	16336	922	32	4	3744	4	TNRC18	7	5391702	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38450	5391702	153746961	4074	9182										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5410814	5410814	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggctctgtgatcttggaGggggacaagcggatgggctt	18	7	2	1	rs114987874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5410814G>C	ENST00000430969.1	-	11	3759	c.3411C>G	c.(3409-3411)ccC>ccG	p.P1137P	TNRC18_ENST00000399537.4_Silent_p.P1137P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1137	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGATCTTGGAGGGGGACAAGC	0.697													G|||	122	0.024361	0.0847	0.0101	5008	,	,		13301	0.0		0.003	False		,,,				2504	0.0				p.P1137P		Atlas-SNP	.											.	TNRC18	311	.	0			c.C3411G						PASS	.	G		322,3598		8,306,1646	15	17	16		3411	0.2	1	7	dbSNP_132	16	16,8234		0,16,4109	no	coding-synonymous	TNRC18	NM_001080495.2		8,322,5755	CC,CG,GG		0.1939,8.2143,2.7773		1137/2969	5410814	338,11832	1960	4125	6085	SO:0001819	synonymous_variant	84629	exon11			CTTGGAGGGGGAC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3411C>G	7.37:g.5410814G>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	83	33	0.39759	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.984;C|0.016	0.016	strong		0.697	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	5410814	G	C	5410814	2	2	22	1	0	0	0	0	0	0	0	1	16336	987	35	4		4	TNRC18	7	5410814	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19112	5410814	153727849	4075	9183										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5417093	5417093	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcggggtcggcagaccaGcgacctgagcccgccagcgc	16	16	0	2	rs60530083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5417093G>T	ENST00000430969.1	-	7	2718	c.2370C>A	c.(2368-2370)cgC>cgA	p.R790R	TNRC18_ENST00000399537.4_Silent_p.R790R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	790							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGCAGACCAGCGACCTGAGC	0.701													G|||	138	0.0275559	0.0514	0.0058	5008	,	,		11884	0.0139		0.002	False		,,,				2504	0.0511				p.R790R		Atlas-SNP	.											.	TNRC18	311	.	0			c.C2370A						PASS	.	G		181,3615		4,173,1721	8	11	10		2370	-0.9	0.9	7	dbSNP_129	10	21,8133		0,21,4056	no	coding-synonymous	TNRC18	NM_001080495.2		4,194,5777	TT,TG,GG		0.2575,4.7682,1.6904		790/2969	5417093	202,11748	1898	4077	5975	SO:0001819	synonymous_variant	84629	exon7			AGACCAGCGACCT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2370C>A	7.37:g.5417093G>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	53	32	0.603774	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.985;T|0.015	0.015	strong		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5417093	G	T	5417093	2	4	22	1	0	0	0	0	0	0	0	1	16336	958	34	4		4	TNRC18	7	5417093	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6279	5417093	153721570	4076	9184										
TNRC18	84629	hgsc.bcm.edu	37	chr7	5427652	5427652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagccaccagggcgcacGgccacggcgtcccgggcaaa	13	18	0	0	rs4720623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5427652G>A	ENST00000430969.1	-	5	2151	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	TNRC18_ENST00000399537.4_Silent_p.A601A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	601							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGGCGCACGGCCACGGCGT	0.667													G|||	2102	0.419728	0.7693	0.3703	5008	,	,		12690	0.1756		0.2535	False		,,,				2504	0.4049				p.A601A		Atlas-SNP	.											.	TNRC18	311	.	0			c.C1803T						PASS	.	G		2598,1330		889,820,255	6	8	7		1803	-5.4	0.7	7	dbSNP_111	7	2219,5961		360,1499,2231	no	coding-synonymous	TNRC18	NM_001080495.2		1249,2319,2486	AA,AG,GG		27.1271,33.8595,39.7836		601/2969	5427652	4817,7291	1964	4090	6054	SO:0001819	synonymous_variant	84629	exon5			GCGCACGGCCACG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1803C>T	7.37:g.5427652G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	60	59	0.983333	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.633;A|0.367	0.367	strong		0.667	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5427652	G	A	5427652	2	1	22	1	0	0	0	0	0	0	0	1	16336	1103	39	1		1	TNRC18	7	5427652	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10559	5427652	153711011	4077	9185										
FSCN1	6624	hgsc.bcm.edu	37	chr7	5643145	5643145	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaatgccagctgctacttTgacatcgagtggcgtgaccg	13	10	0	2	rs1640233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5643145T>C	ENST00000382361.3	+	3	1122	c.1008T>C	c.(1006-1008)ttT>ttC	p.F336F	FSCN1_ENST00000340250.6_Silent_p.F315F	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	336					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GCTGCTACTTTGACATCGAGT	0.642													C|||	1193	0.238219	0.32	0.2176	5008	,	,		18061	0.1766		0.165	False		,,,				2504	0.2812				p.F336F		Atlas-SNP	.											.	FSCN1	29	.	0			c.T1008C						PASS	.	C		1262,3144	428.3+/-341.8	184,894,1125	68	69	68		1008	-1.1	1	7	dbSNP_89	68	1553,7047	290.3+/-299.7	148,1257,2895	no	coding-synonymous	FSCN1	NM_003088.3		332,2151,4020	CC,CT,TT		18.0581,28.6428,21.6439		336/494	5643145	2815,10191	2203	4300	6503	SO:0001819	synonymous_variant	6624	exon3			CTACTTTGACATC	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1008T>C	7.37:g.5643145T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	109	108	0.990826	NM_003088	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	CCDS5342.1																																																																																			T|0.793;C|0.207	0.207	strong		0.642	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		C	5643145	T	C	5643145	2	2	22	1	0	0	0	0	0	0	0	1	6067	1809	63	2		2	FSCN1	7	5643145	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	215493	5643145	153495518	4078	9186										
RNF216	54476	hgsc.bcm.edu	37	chr7	5765034	5765034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccactggtttctggtgaCagctcctgccattttttaat	7	10	1	1	rs77500990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:5765034C>T	ENST00000425013.2	-	8	1478	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	RNF216_ENST00000389902.3_Silent_p.L475L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	418					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTTCTGGTGACAGCTCCTGCC	0.368													c|||	17	0.00339457	0.0129	0.0	5008	,	,		20317	0.0		0.0	False		,,,				2504	0.0				p.L475L		Atlas-SNP	.											.	RNF216	71	.	0			c.G1425A						PASS	.	C	,	52,4354	51.6+/-87.1	0,52,2151	143	123	130		1425,1254	-3	1	7	dbSNP_131	130	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	RNF216	NM_207111.3,NM_207116.2	,	0,58,6445	TT,TC,CC		0.0698,1.1802,0.4459	,	475/924,418/867	5765034	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	54476	exon8			TGGTGACAGCTCC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1254G>A	7.37:g.5765034C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	150	79	0.526667	NM_207111	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	CCDS34595.1																																																																																			C|0.996;T|0.004	0.004	strong		0.368	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5765034	C	T	5765034	2	4	22	1	0	0	0	0	0	0	0	1	13480	465	17	2		2	RNF216	7	5765034	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121889	5765034	153373629	4079	9187										
PMS2	5395	hgsc.bcm.edu	37	chr7	6026787	6026787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagttttaggcgctttctCctgagagtccacatgttcct	9	11	2	1	rs115052399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6026787C>T	ENST00000265849.7	-	11	1714	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PMS2_ENST00000441476.2_Missense_Mutation_p.E431K|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.E537K|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	537					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGCGCTTTCTCCTGAGAGTCC	0.537			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	28	0.00559105	0.0204	0.0014	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0				p.E537K		Atlas-SNP	.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88	.	0			c.G1609A						PASS	.	C	LYS/GLU	55,4351		0,55,2148	78	85	83		1609	3.7	0	7	dbSNP_132	83	0,8596		0,0,4298	no	missense	PMS2	NM_000535.5	56	0,55,6446	TT,TC,CC		0.0,1.2483,0.423	benign	537/863	6026787	55,12947	2203	4298	6501	SO:0001583	missense	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CTTTCTCCTGAGA		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1609G>A	7.37:g.6026787C>T	ENSP00000265849:p.Glu537Lys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	c	11.03	1.519693	0.27211	0.012483	0.0	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.87179	1.1;1.1;-2.22	5.85	3.72	0.42706	.	0.843000	0.10493	N	0.668254	T	0.67449	0.2894	L	0.38838	1.175	0.09310	N	0.999999	B;B;B	0.21071	0.023;0.001;0.051	B;B;B	0.19391	0.011;0.003;0.025	T	0.58086	-0.7698	10	0.09338	T	0.73	-16.5088	10.2582	0.43410	0.0:0.7388:0.1388:0.1224	.	537;537;431	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	K	537;490;431;537	ENSP00000265849:E537K;ENSP00000392843:E431K;ENSP00000384308:E537K	ENSP00000265849:E537K	E	-	1	0	PMS2	5993313	0.001000	0.12720	0.016000	0.15963	0.016000	0.09150	0.250000	0.18235	1.474000	0.48178	0.650000	0.86243	GAG	C|0.995;T|0.005	0.005	strong		0.537	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		T	6026787	C	T	6026787	3	4	22	1	0	0	0	0	1	0	0	0	12143	864	30	2	999	2	PMS2	7	6026787	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	261753	6026787	153111876	4080	9188										
PMS2	5395	hgsc.bcm.edu	37	chr7	6026864	6026864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgctgcagtgactgcccGtgtctgggatgctgaacccc	13	14	1	2	rs74902811|rs267608164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6026864G>A	ENST00000265849.7	-	11	1637	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	PMS2_ENST00000441476.2_Missense_Mutation_p.T405M|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.T511M|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	511			T -> A (in dbSNP:rs2228007). {ECO:0000269|PubMed:10480359}.		ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTGACTGCCCGTGTCTGGGAT	0.622			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G|||	185	0.0369409	0.1067	0.0058	5008	,	,		15619	0.0387		0.0	False		,,,				2504	0.001				p.T511M		Atlas-SNP	.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88	.	0			c.C1532T						PASS	.	G	MET/THR	341,4065	175.9+/-205.1	8,325,1870	55	58	57		1532	-3.2	0	7	dbSNP_131	57	3,8597	2.2+/-6.3	0,3,4297	no	missense	PMS2	NM_000535.5	81	8,328,6167	AA,AG,GG		0.0349,7.7394,2.6449	benign	511/863	6026864	344,12662	2203	4300	6503	SO:0001583	missense	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CTGCCCGTGTCTG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1532C>T	7.37:g.6026864G>A	ENSP00000265849:p.Thr511Met	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	76	0.0347985347985348	55	0.11178861788617886	1	0.0027624309392265192	20	0.03496503496503497	0	0.0	g	9.587	1.125179	0.20959	0.077394	3.49E-4	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86030	1.06;1.06;-2.06	5.54	-3.23	0.05109	.	1.625120	0.02813	N	0.124576	T	0.04363	0.0120	L	0.34521	1.04	0.09310	N	1	B;B;B	0.29253	0.239;0.03;0.239	B;B;B	0.15870	0.009;0.004;0.014	T	0.39860	-0.9593	10	0.44086	T	0.13	-2.1695	1.6864	0.02842	0.4375:0.1024:0.2528:0.2072	.	511;511;405	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	M	511;464;405;511	ENSP00000265849:T511M;ENSP00000392843:T405M;ENSP00000384308:T511M	ENSP00000265849:T511M	T	-	2	0	PMS2	5993390	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.454000	0.06770	-0.103000	0.12175	0.650000	0.86243	ACG	G|0.973;A|0.026	0.026	strong		0.622	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		A	6026864	G	A	6026864	3	1	22	1	0	0	0	0	1	0	0	0	12143	1145	40	1	1076	1	PMS2	7	6026864	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77	6026864	153111799	4081	9189										
PMS2	5395	hgsc.bcm.edu	37	chr7	6026959	6026959	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgtagggtcactgggtccGtgactggaactcactgcctc	12	13	2	1	rs63750685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6026959G>C	ENST00000265849.7	-	11	1542	c.1437C>G	c.(1435-1437)caC>caG	p.H479Q	PMS2_ENST00000441476.2_Missense_Mutation_p.H373Q|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.H479Q|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	479			H -> Q. {ECO:0000269|PubMed:10480359}.		ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACTGGGTCCGTGACTGGAAC	0.577			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	14	0.00279553	0.0053	0.0029	5008	,	,		16803	0.0		0.003	False		,,,				2504	0.002				p.H479Q		Atlas-SNP	.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88	.	0			c.C1437G						PASS	.	C	GLN/HIS	43,4363	37.6+/-69.7	0,43,2160	100	97	98	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1437	2.2	0	7	dbSNP_130	98	24,8576	14.0+/-48.4	0,24,4276	no	missense	PMS2	NM_000535.5	24	0,67,6436	CC,CG,GG		0.2791,0.9759,0.5151	benign	479/863	6026959	67,12939	2203	4300	6503	SO:0001583	missense	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	GGGTCCGTGACTG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1437C>G	7.37:g.6026959G>C	ENSP00000265849:p.His479Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	g	5.130	0.209574	0.09757	0.009759	0.002791	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85339	1.14;1.14;-1.97	5.48	2.17	0.27698	.	3.116210	0.00714	N	0.000858	T	0.55049	0.1896	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.59016	-0.7533	10	0.13108	T	0.6	0.0332	4.2932	0.10888	0.1392:0.478:0.2756:0.1072	rs63750685	479;479;373	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	Q	479;432;373;479	ENSP00000265849:H479Q;ENSP00000392843:H373Q;ENSP00000384308:H479Q	ENSP00000265849:H479Q	H	-	3	2	PMS2	5993485	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.182000	0.16900	0.282000	0.22254	-0.126000	0.14955	CAC	G|0.994;C|0.006	0.006	strong		0.577	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		C	6026959	G	C	6026959	3	2	22	1	0	0	0	0	1	0	0	0	12143	1136	40	4	1171	4	PMS2	7	6026959	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95	6026959	153111704	4082	9190										
USP42	84132	hgsc.bcm.edu	37	chr7	6189780	6189780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggccactccgcacgagctTcaagaacccatgaccctaaa	8	15	1	2	rs3764814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6189780T>C	ENST00000306177.5	+	13	2111	c.1953T>C	c.(1951-1953)ctT>ctC	p.L651L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	651					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CGCACGAGCTTCAAGAACCCA	0.577													C|||	1416	0.282748	0.4349	0.1844	5008	,	,		19683	0.4276		0.0885	False		,,,				2504	0.1973				p.L651L		Atlas-SNP	.											.	USP42	138	.	0			c.T1953C						PASS	.	C		1484,2590		263,958,816	34	40	38		1953	-6.2	0	7	dbSNP_107	38	596,7796		34,528,3634	no	coding-synonymous	USP42	NM_032172.2		297,1486,4450	CC,CT,TT		7.102,36.4261,16.6854		651/1317	6189780	2080,10386	2037	4196	6233	SO:0001819	synonymous_variant	84132	exon13			CGAGCTTCAAGAA	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1953T>C	7.37:g.6189780T>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	72	42	0.583333	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																			T|0.728;C|0.272	0.272	strong		0.577	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		C	6189780	T	C	6189780	2	2	22	1	0	0	0	0	0	0	0	1	17070	1770	62	2		2	USP42	7	6189780	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	162821	6189780	152948883	4083	9191										
DAGLB	221955	hgsc.bcm.edu	37	chr7	6461424	6461424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactctccgctgacaggtcCgtaaggacatcctgtaaaaa	8	12	2	1	rs836515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6461424C>T	ENST00000297056.6	-	9	1321	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	DAGLB_ENST00000436575.1_Silent_p.T343T|DAGLB_ENST00000428902.2_Silent_p.T257T|DAGLB_ENST00000421761.2_Silent_p.T128T|DAGLB_ENST00000425398.2_Silent_p.T255T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	384					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTGACAGGTCCGTAAGGACAT	0.592													C|||	388	0.077476	0.1649	0.0533	5008	,	,		13676	0.0437		0.008	False		,,,				2504	0.0828				p.T384T		Atlas-SNP	.											.	DAGLB	74	.	0			c.G1152A						PASS	.	C	,	692,3714	288.7+/-280.0	61,570,1572	190	120	144		765,1152	-1.5	0.6	7	dbSNP_86	144	31,8569	20.4+/-63.3	0,31,4269	no	coding-synonymous,coding-synonymous	DAGLB	NM_001142936.1,NM_139179.3	,	61,601,5841	TT,TC,CC		0.3605,15.7059,5.559	,	255/544,384/673	6461424	723,12283	2203	4300	6503	SO:0001819	synonymous_variant	221955	exon9			CAGGTCCGTAAGG	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1152G>A	7.37:g.6461424C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	83	47	0.566265	NM_139179	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	CCDS5350.1																																																																																			C|0.946;T|0.054	0.054	strong		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		T	6461424	C	T	6461424	2	4	22	1	0	0	0	0	0	0	0	1	4227	639	23	1		1	DAGLB	7	6461424	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	271644	6461424	152677239	4084	9192										
ZDHHC4	55146	hgsc.bcm.edu	37	chr7	6621277	6621277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaatgtcttcagagagccGtgcatggattgcttcattac	10	9	3	2	rs11559146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6621277G>A	ENST00000396706.2	+	4	600	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.V53M|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.V53M|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.V53M|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.V53M|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.V53M			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	53			V -> M (in dbSNP:rs11559146). {ECO:0000269|Ref.6}.			Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TCAGAGAGCCGTGCATGGATT	0.353													G|||	1633	0.326078	0.4418	0.3732	5008	,	,		20902	0.2351		0.2813	False		,,,				2504	0.2761				p.V53M		Atlas-SNP	.											.	ZDHHC4	36	.	0			c.G157A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1711,2695	515.0+/-368.8	328,1055,820	149	143	145		157,157,157,157	-8.1	0	7	dbSNP_120	145	2355,6245	394.1+/-344.6	327,1701,2272	yes	missense,missense,missense,missense	ZDHHC4	NM_001134387.1,NM_001134388.1,NM_001134389.1,NM_018106.3	21,21,21,21	655,2756,3092	AA,AG,GG		27.3837,38.8334,31.2625	benign,benign,benign,benign	53/345,53/345,53/345,53/345	6621277	4066,8940	2203	4300	6503	SO:0001583	missense	55146	exon4			AGAGCCGTGCATG	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.157G>A	7.37:g.6621277G>A	ENSP00000379934:p.Val53Met	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	197	100	0.507614	NM_018106	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	CCDS5352.1	678	0.31043956043956045	216	0.43902439024390244	131	0.36187845303867405	112	0.1958041958041958	219	0.28891820580474936	g	6.178	0.400937	0.11696	0.388334	0.273837	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000483589;ENST00000396706	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.41;1.27	4.61	-8.12	0.01078	.	1.440670	0.03927	N	0.284580	T	0.00012	0.0000	N	0.00729	-1.24	0.80722	P	0.0	B;B	0.12013	0.003;0.005	B;B	0.08055	0.002;0.003	T	0.34502	-0.9826	9	0.30078	T	0.28	-34.9452	14.5694	0.68202	0.1382:0.1161:0.7457:0.0	rs11559146;rs28642371;rs59223464	53;53	Q9NPG8;C9J5I9	ZDHC4_HUMAN;.	M	53	ENSP00000385027:V53M;ENSP00000379941:V53M;ENSP00000379935:V53M;ENSP00000337475:V53M;ENSP00000379937:V53M;ENSP00000418496:V53M;ENSP00000379934:V53M	ENSP00000337475:V53M	V	+	1	0	ZDHHC4	6587802	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.776000	0.04674	-1.758000	0.01315	-1.155000	0.01812	GTG	G|0.691;A|0.309	0.309	strong		0.353	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		A	6621277	G	A	6621277	3	1	22	1	0	0	0	0	1	0	0	0	17614	1145	40	1	163	1	ZDHHC4	7	6621277	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159853	6621277	152517386	4085	9193										
RSPH10B	728194	hgsc.bcm.edu	37	chr7	6838173	6838176	+	Stop_Codon_Del	DEL	AGAG	AGAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaagaagaagaaaaagtAgagagacacgaggacacaca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGAG	AGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:6838173_6838176delAGAG	ENST00000403107.1	+	0	2999_3002				CCZ1B_ENST00000597208.1_5'Flank|CCZ1B_ENST00000316731.8_3'UTR|RSPH10B2_ENST00000433859.2_Stop_Codon_Del|RSPH10B2_ENST00000404077.1_Stop_Codon_Del|RSPH10B2_ENST00000297186.3_Stop_Codon_Del|RSPH10B2_ENST00000359718.3_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AAGAAAAAGTAGAGAGACACGAGG	0.49																																					p.871_871del		Atlas-Indel	.											.	RSPH10B	28	.	0			c.2611_2884del						PASS	.																																			SO:0001567	stop_retained_variant	222967	exon21			.		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	Exception_encountered	7.37:g.6838173_6838176delAGAG		Somatic	497	0	0		WXS	Illumina HiSeq	Phase_I	379	34	0.0897098	NM_173565	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Frame_Shift_Del	DEL	ENST00000403107.1	37	CCDS43552.1																																																																																			.	.	none		0.49	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		-	6838176	AGAG	-	6838173	7	5	22	1	0	1	0	1	0	0	0	0	13703	433	15	0	5375	0	RSPH10B	7	6838173	Stop_Codon_Del	DEL	AGAG	TCGA-G8-6324-01A-11D-2210-10	216896	6838173	152300490	4086	9194										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7410391	7410391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgaggctctggagtagAttcactgagttcttcccctg	10	9	3	3	rs76240858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7410391A>C	ENST00000399429.3	-	33	3171	c.3031T>G	c.(3031-3033)Tct>Gct	p.S1011A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1011					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTGGAGTAGATTCACTGAGT	0.373													A|||	17	0.00339457	0.0113	0.0	5008	,	,		16003	0.0		0.002	False		,,,				2504	0.0				p.S1011A		Atlas-SNP	.											.	COL28A1	113	.	0			c.T3031G						PASS	.	A	ALA/SER	37,3663		0,37,1813	127	116	120		3031	0.1	0	7	dbSNP_131	120	2,8168		0,2,4083	yes	missense	COL28A1	NM_001037763.2	99	0,39,5896	CC,CA,AA		0.0245,1.0,0.3286	possibly-damaging	1011/1126	7410391	39,11831	1850	4085	5935	SO:0001583	missense	340267	exon33			GAGTAGATTCACT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3031T>G	7.37:g.7410391A>C	ENSP00000382356:p.Ser1011Ala	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	32	0.329897	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	9	0.004120879120879121	8	0.016260162601626018	0	0.0	0	0.0	1	0.0013192612137203166	A	10.22	1.291183	0.23564	0.01	2.45E-4	ENSG00000215018	ENST00000399429	D	0.88509	-2.39	3.85	0.134	0.14771	.	1.902650	0.03097	U	0.160580	T	0.69415	0.3108	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60556	-0.7240	10	0.18710	T	0.47	0.0019	6.0507	0.19785	0.6632:0.0:0.3368:0.0	.	1011	Q2UY09	COSA1_HUMAN	A	1011	ENSP00000382356:S1011A	ENSP00000382356:S1011A	S	-	1	0	COL28A1	7376916	0.764000	0.28473	0.033000	0.17914	0.275000	0.26752	0.791000	0.26915	0.014000	0.14944	-0.290000	0.09829	TCT	A|0.997;C|0.003	0.003	strong		0.373	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7410391	A	C	7410391	3	2	22	1	0	0	0	0	1	0	0	0	3686	333	12	5	358	5	COL28A1	7	7410391	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	572218	7410391	151728272	4087	9195										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7413149	7413149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacaaacaccagctctagTggagtctctttgcatttggg	9	10	3	0	rs61744841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7413149T>C	ENST00000399429.3	-	32	2528	c.2388A>G	c.(2386-2388)ccA>ccG	p.P796P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	796					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCAGCTCTAGTGGAGTCTCTT	0.448													T|||	549	0.109625	0.3389	0.0418	5008	,	,		18200	0.001		0.0487	False		,,,				2504	0.0225				p.P796P		Atlas-SNP	.											COL28A1,NS,carcinoma,-1,1	COL28A1	113	1	0			c.A2388G						PASS	.	T		1053,2679		154,745,967	75	77	77		2388	-8.9	0	7	dbSNP_129	77	395,7803		10,375,3714	no	coding-synonymous	COL28A1	NM_001037763.2		164,1120,4681	CC,CT,TT		4.8182,28.2154,12.1375		796/1126	7413149	1448,10482	1866	4099	5965	SO:0001819	synonymous_variant	340267	exon32			CTCTAGTGGAGTC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2388A>G	7.37:g.7413149T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																			T|0.927;C|0.073	0.073	strong		0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7413149	T	C	7413149	2	2	22	1	0	0	0	0	0	0	0	1	3686	1683	59	2		2	COL28A1	7	7413149	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2758	7413149	151725514	4088	9196										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7495735	7495735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttggggtcccacaggtccTatatccccctgcacagaaaa	8	15	0	1	rs55745506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7495735T>C	ENST00000399429.3	-	16	1451	c.1311A>G	c.(1309-1311)atA>atG	p.I437M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	437			I -> M (in dbSNP:rs55745506).		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACAGGTCCTATATCCCCCT	0.408													C|||	1584	0.316294	0.5726	0.2522	5008	,	,		15221	0.2103		0.2107	False		,,,				2504	0.2331				p.I437M		Atlas-SNP	.											.	COL28A1	113	.	0			c.A1311G						PASS	.	C	MET/ILE	1760,1876		433,894,491	73	72	72		1311	1.4	1	7	dbSNP_129	72	1664,6492		155,1354,2569	yes	missense	COL28A1	NM_001037763.2	10	588,2248,3060	CC,CT,TT		20.4022,48.4048,29.0366	benign	437/1126	7495735	3424,8368	1818	4078	5896	SO:0001583	missense	340267	exon16			AGGTCCTATATCC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1311A>G	7.37:g.7495735T>C	ENSP00000382356:p.Ile437Met	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	69	40	0.57971	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	658	0.30128205128205127	292	0.5934959349593496	96	0.26519337016574585	115	0.20104895104895104	155	0.20448548812664907	C	8.864	0.947737	0.18356	0.484048	0.204022	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.94280	-3.39	4.53	1.44	0.22558	.	2.249830	0.03373	N	0.199275	T	0.00012	0.0000	N	0.12611	0.24	0.48830	P	2.870000000000372E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37337	-0.9710	9	0.44086	T	0.13	0.4197	6.775	0.23615	0.0:0.5303:0.0:0.4697	rs55745506;rs59850353	437;437	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	M	437	ENSP00000382356:I437M	ENSP00000382347:I437M	I	-	3	3	COL28A1	7462260	0.993000	0.37304	0.996000	0.52242	0.906000	0.53458	0.148000	0.16224	-0.044000	0.13491	-1.082000	0.02213	ATA	T|0.729;C|0.271	0.271	strong		0.408	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7495735	T	C	7495735	3	2	22	1	0	0	0	0	1	0	0	0	3686	1512	53	3	2146	3	COL28A1	7	7495735	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82586	7495735	151642928	4089	9197										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7514235	7514235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctattatacagtaccttCtcccctttgattgacaggcc	5	14	1	2	rs6952195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7514235C>G	ENST00000399429.3	-	15	1439	c.1299G>C	c.(1297-1299)gaG>gaC	p.E433D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	433			E -> D (in dbSNP:rs6952195).		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E433D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACAGTACCTTCTCCCCTTTGA	0.413													G|||	1694	0.338259	0.6536	0.2565	5008	,	,		15040	0.2113		0.2117	False		,,,				2504	0.2311				p.E433D		Atlas-SNP	.											COL28A1,NS,carcinoma,0,1	COL28A1	113	1	1	Substitution - Missense(1)	stomach(1)	c.G1299C						PASS	.	G	ASP/GLU	2084,1636		601,882,377	135	136	135		1299	2.8	1	7	dbSNP_116	135	1671,6547		153,1365,2591	yes	missense	COL28A1	NM_001037763.2	45	754,2247,2968	GG,GC,CC		20.3334,43.9785,31.4542	benign	433/1126	7514235	3755,8183	1860	4109	5969	SO:0001583	missense	340267	exon15			TACCTTCTCCCCT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1299G>C	7.37:g.7514235C>G	ENSP00000382356:p.Glu433Asp	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	699	0.32005494505494503	335	0.6808943089430894	94	0.2596685082872928	115	0.20104895104895104	155	0.20448548812664907	G	1.123	-0.654628	0.03480	0.560215	0.203334	ENSG00000215018	ENST00000399429;ENST00000399419	T	0.74421	-0.84	4.7	2.82	0.32997	.	0.095250	0.38778	N	0.001569	T	0.00012	0.0000	L	0.28192	0.835	0.54753	P	1.399999999995849E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47289	-0.9129	9	0.10636	T	0.68	-4.2027	2.9265	0.05786	0.1009:0.1805:0.5319:0.1867	rs6952195;rs9771165;rs52835781;rs6952195	433;433	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	D	433	ENSP00000382356:E433D	ENSP00000382347:E433D	E	-	3	2	COL28A1	7480760	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	0.669000	0.25142	0.275000	0.22094	-0.127000	0.14921	GAG	C|0.712;G|0.288	0.288	strong		0.413	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		G	7514235	C	G	7514235	3	3	22	1	0	0	0	0	1	0	0	0	3686	912	32	4	2162	4	COL28A1	7	7514235	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18500	7514235	151624428	4090	9198										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7545691	7545691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtctcctggaggtccaGtaattccctgctccaggatg	12	12	1	0	rs10486176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7545691G>C	ENST00000399429.3	-	11	1120	c.980C>G	c.(979-981)aCt>aGt	p.T327S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	327	Collagen-like 2.		T -> S (in dbSNP:rs10486176).		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGAGGTCCAGTAATTCCCTG	0.483													C|||	716	0.142971	0.1188	0.1527	5008	,	,		18641	0.1696		0.1173	False		,,,				2504	0.1677				p.T327S		Atlas-SNP	.											.	COL28A1	113	.	0			c.C980G						PASS	.	C	SER/THR	450,3270		28,394,1438	88	86	86		980	1.7	0.7	7	dbSNP_119	86	956,7240		58,840,3200	yes	missense	COL28A1	NM_001037763.2	58	86,1234,4638	CC,CG,GG		11.6642,12.0968,11.7993	benign	327/1126	7545691	1406,10510	1860	4098	5958	SO:0001583	missense	340267	exon11			GGTCCAGTAATTC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.980C>G	7.37:g.7545691G>C	ENSP00000382356:p.Thr327Ser	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	137	58	0.423358	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	283	0.1295787545787546	52	0.10569105691056911	60	0.16574585635359115	86	0.15034965034965034	85	0.11213720316622691	C	0.072	-1.201327	0.01581	0.120968	0.116642	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93189	-3.18	4.52	1.68	0.24146	.	0.955778	0.08549	N	0.929345	T	0.01320	0.0043	L	0.35288	1.05	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.40813	-0.9543	9	0.13853	T	0.58	0.0743	5.235	0.15441	0.0:0.4599:0.3515:0.1886	rs10486176;rs10486176	327	Q2UY09	COSA1_HUMAN	S	327	ENSP00000382356:T327S	ENSP00000382347:T327S	T	-	2	0	COL28A1	7512216	0.781000	0.28676	0.665000	0.29768	0.811000	0.45836	0.520000	0.22878	0.010000	0.14839	-0.215000	0.12644	ACT	G|0.869;C|0.131	0.131	strong		0.483	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7545691	G	C	7545691	3	2	22	1	0	0	0	0	1	0	0	0	3686	1029	36	4	2497	4	COL28A1	7	7545691	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31456	7545691	151592972	4091	9199										
COL28A1	340267	hgsc.bcm.edu	37	chr7	7571420	7571420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggagcgaccaggagtcaaTtggaaaatcttgtcactcaa	10	8	4	0	rs17168526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:7571420T>C	ENST00000399429.3	-	3	380	c.240A>G	c.(238-240)caA>caG	p.Q80Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	80	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAGGAGTCAATTGGAAAATCT	0.418													T|||	127	0.0253594	0.0923	0.0058	5008	,	,		18415	0.0		0.001	False		,,,				2504	0.0				p.Q80Q		Atlas-SNP	.											.	COL28A1	113	.	0			c.A240G						PASS	.	T		280,3454		9,262,1596	70	69	70		240	-8.4	0	7	dbSNP_123	70	6,8210		0,6,4102	no	coding-synonymous	COL28A1	NM_001037763.2		9,268,5698	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	0.073,7.4987,2.3933		80/1126	7571420	286,11664	1867	4108	5975	SO:0001819	synonymous_variant	340267	exon3			AGTCAATTGGAAA	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.240A>G	7.37:g.7571420T>C		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	318	131	0.41195	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																			T|0.969;C|0.031	0.031	strong		0.418	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7571420	T	C	7571420	2	2	22	1	0	0	0	0	0	0	0	1	3686	1490	52	2		2	COL28A1	7	7571420	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25729	7571420	151567243	4092	9200										
ICA1	3382	hgsc.bcm.edu	37	chr7	8198226	8198226	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagatccactttttgacaAacatccatcttcaatttgtc	4	10	2	3	rs7798010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:8198226A>C	ENST00000402384.3	-	7	902	c.636T>G	c.(634-636)gtT>gtG	p.V212V	ICA1_ENST00000396675.3_Silent_p.V212V|ICA1_ENST00000406470.2_Silent_p.V212V|ICA1_ENST00000422063.2_Silent_p.V212V|ICA1_ENST00000401396.1_Silent_p.V200V|ICA1_ENST00000407906.1_Silent_p.V212V|ICA1_ENST00000265577.7_Silent_p.V211V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	212	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTTTTTGACAAACATCCATCT	0.373													C|||	640	0.127796	0.4221	0.0447	5008	,	,		20615	0.0		0.0169	False		,,,				2504	0.0348				p.F212L		Atlas-SNP	.											.	ICA1	65	.	0			c.T636G						PASS	.	C	,,	1638,2768	659.2+/-400.5	304,1030,869	154	135	141		636,636,636	3.2	1	7	dbSNP_116	141	109,8491	814.3+/-407.0	0,109,4191	no	coding-synonymous,coding-synonymous,coding-synonymous	ICA1	NM_001136020.1,NM_004968.2,NM_022307.2	,,	304,1139,5060	CC,CA,AA		1.2674,37.1766,13.4323	,,	212/484,212/484,212/484	8198226	1747,11259	2203	4300	6503	SO:0001819	synonymous_variant	3382	exon7			TTGACAAACATCC		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.636T>G	7.37:g.8198226A>C		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	128	66	0.515625	NM_001136020	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	CCDS34602.1																																																																																			A|0.880;C|0.120	0.120	strong		0.373	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		C	8198226	A	C	8198226	2	2	22	1	0	0	0	0	0	0	0	1	7477	1	1	5		5	ICA1	7	8198226	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	626806	8198226	150940437	4093	9201										
TMEM106B	54664	hgsc.bcm.edu	37	chr7	12269417	12269417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacgcttaaacaacataaCcattattggtccacttgata	6	10	0	1	rs3173615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:12269417C>G	ENST00000396667.3	+	6	876	c.554C>G	c.(553-555)aCc>aGc	p.T185S	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T185S	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	185			T -> S (in dbSNP:rs3173615). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:23742080}.		cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AACAACATAACCATTATTGGT	0.308													C|||	2980	0.595048	0.6808	0.5692	5008	,	,		18287	0.6508		0.4016	False		,,,				2504	0.6391				p.T185S		Atlas-SNP	.											TMEM106B,NS,adenoma,0,1	TMEM106B	34	1	0			c.C554G						PASS	.	C	SER/THR,SER/THR	2897,1509	673.6+/-402.8	965,967,271	69	70	69		554,554	5.4	1	7	dbSNP_105	69	3587,5009	516.1+/-378.7	780,2027,1491	yes	missense,missense	TMEM106B	NM_001134232.1,NM_018374.3	58,58	1745,2994,1762	GG,GC,CC		41.7287,34.2488,49.8693	possibly-damaging,possibly-damaging	185/275,185/275	12269417	6484,6518	2203	4298	6501	SO:0001583	missense	54664	exon5			ACATAACCATTAT	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.554C>G	7.37:g.12269417C>G	ENSP00000379901:p.Thr185Ser	Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	271	271	1	NM_001134232	A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	CCDS5358.1	1198	0.5485347985347986	324	0.6585365853658537	184	0.5082872928176796	384	0.6713286713286714	306	0.40369393139841686	C	14.51	2.557596	0.45590	0.657512	0.417287	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.22539	1.95;1.95	5.36	5.36	0.76844	.	0.048857	0.85682	D	0.000000	T	0.00012	0.0000	L	0.50333	1.59	0.22330	P	0.99919789	B	0.20261	0.043	B	0.17098	0.017	T	0.38178	-0.9673	9	0.54805	T	0.06	-15.6842	12.7762	0.57451	0.0:0.9247:0.0:0.0753	rs3173615;rs10348977;rs11546466;rs17149904;rs17853942;rs52789343;rs59821228;rs3173615	185	Q9NUM4	T106B_HUMAN	S	185	ENSP00000379902:T185S;ENSP00000379901:T185S	ENSP00000379901:T185S	T	+	2	0	TMEM106B	12235942	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.898000	0.69838	2.689000	0.91719	0.655000	0.94253	ACC	C|0.481;G|0.519	0.519	strong		0.308	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		G	12269417	C	G	12269417	3	3	22	1	0	0	0	0	1	0	0	0	16018	507	18	4	568	4	TMEM106B	7	12269417	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4071191	12269417	146869246	4094	9202										
SCIN	85477	hgsc.bcm.edu	37	chr7	12675690	12675690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaggagcaaatgccacacGagatgagctgacaacatctg	11	10	1	3	rs35385652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:12675690G>A	ENST00000297029.5	+	10	1441	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	SCIN_ENST00000445618.2_Missense_Mutation_p.R200Q|SCIN_ENST00000519209.1_Missense_Mutation_p.R200Q	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	447	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATGCCACACGAGATGAGCTG	0.463													G|||	144	0.028754	0.0272	0.0346	5008	,	,		20478	0.0		0.0567	False		,,,				2504	0.0276				p.R447Q		Atlas-SNP	.											.	SCIN	105	.	0			c.G1340A						PASS	.	G	GLN/ARG,GLN/ARG	132,3910		1,130,1890	87	87	87		1340,599	3.8	0.5	7	dbSNP_126	87	372,8006		10,352,3827	yes	missense,missense	SCIN	NM_001112706.2,NM_033128.3	43,43	11,482,5717	AA,AG,GG		4.4402,3.2657,4.058	benign,benign	447/716,200/469	12675690	504,11916	2021	4189	6210	SO:0001583	missense	85477	exon10			CCACACGAGATGA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1340G>A	7.37:g.12675690G>A	ENSP00000297029:p.Arg447Gln	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	109	55	0.504587	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	58	0.026556776556776556	10	0.02032520325203252	10	0.027624309392265192	0	0.0	38	0.05013192612137203	G	0.271	-0.993087	0.02145	0.032657	0.044402	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.52526	0.66;0.66;0.66	5.55	3.75	0.43078	Gelsolin domain (1);	0.182576	0.45606	D	0.000357	T	0.01627	0.0052	N	0.00272	-1.73	0.31397	N	0.67714	B	0.16603	0.018	B	0.12837	0.008	T	0.23619	-1.0183	10	0.02654	T	1	-16.0247	8.981	0.35966	0.2803:0.0:0.7197:0.0	rs35385652	447	Q9Y6U3	ADSV_HUMAN	Q	447;200;200	ENSP00000297029:R447Q;ENSP00000430997:R200Q;ENSP00000390189:R200Q	ENSP00000297029:R447Q	R	+	2	0	SCIN	12642215	0.046000	0.20272	0.474000	0.27266	0.141000	0.21300	0.525000	0.22956	0.714000	0.32081	-0.123000	0.14984	CGA	G|0.972;A|0.028	0.028	strong		0.463	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		A	12675690	G	A	12675690	3	1	22	1	0	0	0	0	1	0	0	0	13905	1058	37	1	1378	1	SCIN	7	12675690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	406273	12675690	146462973	4095	9203										
SCIN	85477	hgsc.bcm.edu	37	chr7	12675713	12675713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgagctgacaacatctgcgTtcctgactgttcagttggat	10	9	2	3	rs17166250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:12675713T>C	ENST00000297029.5	+	10	1464	c.1363T>C	c.(1363-1365)Ttc>Ctc	p.F455L	SCIN_ENST00000445618.2_Missense_Mutation_p.F208L|SCIN_ENST00000519209.1_Missense_Mutation_p.F208L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	455	Ca(2+)-dependent actin binding.		F -> L (in dbSNP:rs17166250).		actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AACATCTGCGTTCCTGACTGT	0.453													T|||	163	0.0325479	0.0416	0.0346	5008	,	,		19999	0.0		0.0567	False		,,,				2504	0.0276				p.F455L		Atlas-SNP	.											.	SCIN	105	.	0			c.T1363C						PASS	.	T	LEU/PHE,LEU/PHE	180,3844		1,178,1833	94	93	94		1363,622	5.6	1	7	dbSNP_123	94	369,8015		10,349,3833	yes	missense,missense	SCIN	NM_001112706.2,NM_033128.3	22,22	11,527,5666	CC,CT,TT		4.4012,4.4732,4.4246	benign,benign	455/716,208/469	12675713	549,11859	2012	4192	6204	SO:0001583	missense	85477	exon10			TCTGCGTTCCTGA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1363T>C	7.37:g.12675713T>C	ENSP00000297029:p.Phe455Leu	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	122	62	0.508197	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	61	0.027930402930402932	13	0.026422764227642278	10	0.027624309392265192	0	0.0	38	0.05013192612137203	T	14.43	2.533963	0.45073	0.044732	0.044012	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.49432	0.78;0.78;0.78	5.55	5.55	0.83447	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	N	0.17312	0.475	0.53688	D	0.999979	D	0.65815	0.995	D	0.68192	0.956	T	0.23404	-1.0189	10	0.30078	T	0.28	-15.794	15.6872	0.77421	0.0:0.0:0.0:1.0	rs17166250;rs52793594;rs17166250	455	Q9Y6U3	ADSV_HUMAN	L	455;208;208	ENSP00000297029:F455L;ENSP00000430997:F208L;ENSP00000390189:F208L	ENSP00000297029:F455L	F	+	1	0	SCIN	12642238	1.000000	0.71417	0.971000	0.41717	0.460000	0.32559	3.816000	0.55658	2.100000	0.63781	0.533000	0.62120	TTC	T|0.970;C|0.030	0.030	strong		0.453	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		C	12675713	T	C	12675713	3	2	22	1	0	0	0	0	1	0	0	0	13905	1725	60	2	1401	2	SCIN	7	12675713	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23	12675713	146462950	4096	9204										
DGKB	1607	hgsc.bcm.edu	37	chr7	14758273	14758273	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatttgcaggagaagtagtCcggggaggggtgatggcacc	18	6	0	2	rs1997040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:14758273C>T	ENST00000403951.2	-	6	779	c.360G>A	c.(358-360)cgG>cgA	p.R120R	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.R120R|DGKB_ENST00000407950.1_Silent_p.R113R|DGKB_ENST00000444700.2_Silent_p.R113R|DGKB_ENST00000406247.3_Silent_p.R120R|DGKB_ENST00000402815.1_Silent_p.R120R|DGKB_ENST00000258767.5_Silent_p.R120R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	120					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAGAAGTAGTCCGGGGAGGGG	0.398													C|||	2534	0.50599	0.1467	0.5893	5008	,	,		15411	0.8819		0.4384	False		,,,				2504	0.6145				p.R120R		Atlas-SNP	.											.	DGKB	166	.	0			c.G360A						PASS	.	C	,	757,2935		90,577,1179	85	81	83		360,360	-5.6	0.2	7	dbSNP_92	83	3726,4468		833,2060,1204	no	coding-synonymous,coding-synonymous	DGKB	NM_004080.2,NM_145695.2	,	923,2637,2383	TT,TC,CC		45.4723,20.5038,37.7166	,	120/805,120/774	14758273	4483,7403	1846	4097	5943	SO:0001819	synonymous_variant	1607	exon5			AGTAGTCCGGGGA	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.360G>A	7.37:g.14758273C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	152	67	0.440789	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																			C|0.500;T|0.500	0.500	strong		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		T	14758273	C	T	14758273	2	4	22	1	0	0	0	0	0	0	0	1	4466	842	30	2		2	DGKB	7	14758273	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2082560	14758273	144380390	4097	9205										
TMEM195	392636	hgsc.bcm.edu	37	chr7	15458186	15458186	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaaaaaaagttttacctcTgtatggatccaaaattggta					rs28635514	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:15458186T>C	ENST00000342526.3	-	5	775	c.606A>G	c.(604-606)acA>acG	p.T202T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	202					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTTTTACCTCTGTATGGATCC	0.353													T|||	303	0.0605032	0.1566	0.0605	5008	,	,		13011	0.0		0.0288	False		,,,				2504	0.0256				p.T202T		Atlas-SNP	.											.	AGMO	98	.	0			c.A606G						PASS	.	T		525,3869		31,463,1703	32	38	36		606	-0.5	1	7	dbSNP_125	36	324,8250		9,306,3972	no	coding-synonymous	AGMO	NM_001004320.1		40,769,5675	CC,CT,TT		3.7789,11.9481,6.5469		202/446	15458186	849,12119	2197	4287	6484	SO:0001819	synonymous_variant	392636	exon5			TACCTCTGTATGG		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.606A>G	7.37:g.15458186T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	151	76	0.503311	NM_001004320	A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	CCDS34604.1																																																																																			T|0.943;C|0.057	0.057	strong		0.353	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		C	15458186	T	C	15458186	2	2	22	1	0	0	0	0	0	0	0	1	16114	1567	55	3		3	TMEM195	7	15458186	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	699913	15458186	143680477	4098	9206	180	2								
TMEM195	392636	hgsc.bcm.edu	37	chr7	15458194	15458194	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagttttacctctgtatggaTccaaaattggtaaagaagat					rs146442781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:15458194T>A	ENST00000342526.3	-	5	767	c.598A>T	c.(598-600)Atc>Ttc	p.I200F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	200					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.I200V(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGTATGGATCCAAAATTGG	0.348													T|||	22	0.00439297	0.0151	0.0029	5008	,	,		13274	0.0		0.0	False		,,,				2504	0.0				p.I200F		Atlas-SNP	.											AGMO,NS,carcinoma,0,1	AGMO	98	1	1	Substitution - Missense(1)	prostate(1)	c.A598T						scavenged	.	T	PHE/ILE	50,4350		0,50,2150	35	42	40		598	5.8	1	7	dbSNP_134	40	0,8574		0,0,4287	yes	missense	AGMO	NM_001004320.1	21	0,50,6437	AA,AT,TT		0.0,1.1364,0.3854	probably-damaging	200/446	15458194	50,12924	2200	4287	6487	SO:0001583	missense	392636	exon5			TATGGATCCAAAA		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.598A>T	7.37:g.15458194T>A	ENSP00000341662:p.Ile200Phe	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	162	81	0.5	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	T	22.8	4.342517	0.81911	0.011364	0.0	ENSG00000187546	ENST00000342526	D	0.84730	-1.89	5.8	5.8	0.92144	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.93462	3.42	0.80722	D	1	D	0.56035	0.974	P	0.61328	0.887	D	0.93409	0.6767	10	0.72032	D	0.01	-30.639	16.1416	0.81528	0.0:0.0:0.0:1.0	.	200	Q6ZNB7	ALKMO_HUMAN	F	200	ENSP00000341662:I200F	ENSP00000341662:I200F	I	-	1	0	AGMO	15424719	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.600000	0.67599	2.209000	0.71365	0.482000	0.46254	ATC	T|0.997;A|0.003	0.003	strong		0.348	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		A	15458194	T	A	15458194	3	1	22	1	0	0	0	0	1	0	0	0	16114	1435	50	5	775	5	TMEM195	7	15458194	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8	15458194	143680469	4099	9207	180	2								
ANKMY2	57037	hgsc.bcm.edu	37	chr7	16640491	16640491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccggaatcttcaggattGgaatccttttgagagatacc	9	10	2	2	rs541797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:16640491G>A	ENST00000306999.2	-	10	1464	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	407						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTTCAGGATTGGAATCCTTTT	0.443													G|||	901	0.179912	0.1967	0.3545	5008	,	,		20211	0.1012		0.166	False		,,,				2504	0.1288				p.S407S		Atlas-SNP	.											.	ANKMY2	46	.	0			c.C1221T						PASS	.	G		806,3600	321.0+/-296.9	74,658,1471	90	86	87		1221	0.7	0	7	dbSNP_83	87	1291,7309	255.2+/-280.2	91,1109,3100	yes	coding-synonymous	ANKMY2	NM_020319.2		165,1767,4571	AA,AG,GG		15.0116,18.2932,16.1233		407/442	16640491	2097,10909	2203	4300	6503	SO:0001819	synonymous_variant	57037	exon10			AGGATTGGAATCC	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1221C>T	7.37:g.16640491G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	95	35	0.368421	NM_020319	A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	CCDS5361.1																																																																																			G|0.835;A|0.165	0.165	strong		0.443	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		A	16640491	G	A	16640491	2	1	22	1	0	0	0	0	0	0	0	1	635	1335	47	2		2	ANKMY2	7	16640491	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1182297	16640491	142498172	4100	9208										
AHR	196	hgsc.bcm.edu	37	chr7	17379110	17379110	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattgattttgaagacatcaGacacatgcagaatgaaaaat	7	6	1	6	rs2066853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:17379110G>A	ENST00000242057.4	+	10	2304	c.1661G>A	c.(1660-1662)aGa>aAa	p.R554K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	554			R -> K (in dbSNP:rs2066853). {ECO:0000269|PubMed:10739168, ECO:0000269|PubMed:11698344, ECO:0000269|PubMed:7550366}.		apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GAAGACATCAGACACATGCAG	0.378													A|||	1356	0.270767	0.4622	0.1729	5008	,	,		21674	0.37		0.1083	False		,,,				2504	0.1462				p.R554K		Atlas-SNP	.											.	AHR	89	.	0			c.G1661A	GRCh37	CM005460	AHR	M	rs2066853	PASS	.	A	LYS/ARG	1957,2449	598.6+/-389.1	423,1111,669	61	69	66		1661	0.6	0.1	7	dbSNP_94	66	870,7730	769.9+/-407.6	50,770,3480	yes	missense	AHR	NM_001621.4	26	473,1881,4149	AA,AG,GG		10.1163,44.4167,21.7361	benign	554/849	17379110	2827,10179	2203	4300	6503	SO:0001583	missense	196	exon10			ACATCAGACACAT	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1661G>A	7.37:g.17379110G>A	ENSP00000242057:p.Arg554Lys	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	34	34	1	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	598	0.27380952380952384	218	0.44308943089430897	56	0.15469613259668508	237	0.4143356643356643	87	0.11477572559366754	A	1.860	-0.462934	0.04476	0.444167	0.101163	ENSG00000106546	ENST00000242057	T	0.18810	2.19	6.02	0.604	0.17547	.	0.511408	0.22840	N	0.054999	T	0.00012	0.0000	N	0.01076	-1.035	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48948	-0.8989	9	0.02654	T	1	.	11.5999	0.50997	0.6648:0.0:0.3352:0.0	rs2066853;rs10330845;rs17137606;rs52789584;rs59985413;rs2066853	554	P35869	AHR_HUMAN	K	554	ENSP00000242057:R554K	ENSP00000242057:R554K	R	+	2	0	AHR	17345635	0.019000	0.18553	0.146000	0.22360	0.819000	0.46315	1.476000	0.35420	-0.048000	0.13401	-0.269000	0.10298	AGA	G|0.757;A|0.243	0.243	strong		0.378	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17379110	G	A	17379110	3	1	22	1	0	0	0	0	1	0	0	0	416	942	33	2	1699	2	AHR	7	17379110	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	738619	17379110	141759553	4101	9209										
AHR	196	hgsc.bcm.edu	37	chr7	17379157	17379157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgatttttctggtgagGttgacttcagagacattgac	11	5	2	5	rs4986826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:17379157G>A	ENST00000242057.4	+	10	2351	c.1708G>A	c.(1708-1710)Gtt>Att	p.V570I		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	570			V -> I (in dbSNP:rs4986826). {ECO:0000269|PubMed:10739168, ECO:0000269|PubMed:11689007}.		apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTCTGGTGAGGTTGACTTCAG	0.363													G|||	113	0.0225639	0.0756	0.0144	5008	,	,		21431	0.0		0.002	False		,,,				2504	0.001				p.V570I		Atlas-SNP	.											.	AHR	89	.	0			c.G1708A						PASS	.	G	ILE/VAL	285,4121	151.8+/-185.6	14,257,1932	67	71	69		1708	3.4	0.4	7	dbSNP_111	69	17,8583	11.9+/-42.8	0,17,4283	yes	missense	AHR	NM_001621.4	29	14,274,6215	AA,AG,GG		0.1977,6.4685,2.322	benign	570/849	17379157	302,12704	2203	4300	6503	SO:0001583	missense	196	exon10			GGTGAGGTTGACT	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1708G>A	7.37:g.17379157G>A	ENSP00000242057:p.Val570Ile	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	43	27	0.627907	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	49	0.022435897435897436	41	0.08333333333333333	8	0.022099447513812154	0	0.0	0	0.0	G	9.679	1.148672	0.21288	0.064685	0.001977	ENSG00000106546	ENST00000242057	T	0.24723	1.84	6.16	3.44	0.39384	.	0.396190	0.28322	N	0.015763	T	0.01489	0.0048	M	0.63428	1.95	0.18873	N	0.999986	B	0.31009	0.303	B	0.33799	0.17	T	0.02132	-1.1208	10	0.38643	T	0.18	.	12.061	0.53562	0.15:0.0:0.85:0.0	rs4986826;rs52830926;rs58070269;rs4986826	570	P35869	AHR_HUMAN	I	570	ENSP00000242057:V570I	ENSP00000242057:V570I	V	+	1	0	AHR	17345682	0.908000	0.30866	0.408000	0.26446	0.911000	0.54048	1.786000	0.38694	0.498000	0.27948	0.650000	0.86243	GTT	G|0.974;A|0.026	0.026	strong		0.363	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17379157	G	A	17379157	3	1	22	1	0	0	0	0	1	0	0	0	416	1261	44	2	1746	2	AHR	7	17379157	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47	17379157	141759506	4102	9210										
HDAC9	9734	hgsc.bcm.edu	37	chr7	18914209	18914209	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctaggagggtacaaagtGacggcaaaatgtaagtacct	11	8	1	1	rs17140166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:18914209G>T	ENST00000432645.2	+	21	2784	c.2784G>T	c.(2782-2784)gtG>gtT	p.V928V	HDAC9_ENST00000441542.2_Silent_p.V931V|HDAC9_ENST00000406451.4_Silent_p.V928V|HDAC9_ENST00000401921.1_Silent_p.V887V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	928	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTACAAAGTGACGGCAAAAT	0.443													G|||	94	0.01877	0.0681	0.0029	5008	,	,		18680	0.0		0.002	False		,,,				2504	0.0				p.V931V		Atlas-SNP	.											.	HDAC9	560	.	0			c.G2793T						PASS	.	G	,,	258,3528		7,244,1642	67	62	64		2784,2784,2793	1.4	1	7	dbSNP_123	64	4,8238		0,4,4117	no	coding-synonymous,coding-synonymous,coding-synonymous	HDAC9	NM_058176.2,NM_178423.1,NM_178425.2	,,	7,248,5759	TT,TG,GG		0.0485,6.8146,2.1783	,,	928/1012,928/1067,931/1070	18914209	262,11766	1893	4121	6014	SO:0001819	synonymous_variant	9734	exon21			CAAAGTGACGGCA	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2784G>T	7.37:g.18914209G>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	35	0.4375	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																			G|0.975;T|0.025	0.025	strong		0.443	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18914209	G	T	18914209	2	4	22	1	0	0	0	0	0	0	0	1	7014	1277	45	4		4	HDAC9	7	18914209	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1535052	18914209	140224454	4103	9211										
MACC1	346389	hgsc.bcm.edu	37	chr7	20198440	20198440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaatagcctggcagattcGagagtctttttaggtttggg	13	6	1	2	rs975263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20198440G>A	ENST00000400331.5	-	5	1852	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	MACC1_ENST00000332878.4_Missense_Mutation_p.S515L|MACC1_ENST00000589011.1_Missense_Mutation_p.S515L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	515			S -> L (in dbSNP:rs975263). {ECO:0000269|PubMed:14702039}.		positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGGCAGATTCGAGAGTCTTTT	0.393													G|||	2131	0.425519	0.2799	0.3256	5008	,	,		19058	0.7837		0.2445	False		,,,				2504	0.5102				p.S515L		Atlas-SNP	.											.	MACC1	99	.	0			c.C1544T						PASS	.	G	LEU/SER	1276,3130	421.5+/-339.4	186,904,1113	103	111	108		1544	5.1	0	7	dbSNP_86	108	2048,6552	352.5+/-328.7	274,1500,2526	yes	missense	MACC1	NM_182762.3	145	460,2404,3639	AA,AG,GG		23.814,28.9605,25.5574	benign	515/853	20198440	3324,9682	2203	4300	6503	SO:0001583	missense	346389	exon5			AGATTCGAGAGTC		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1544C>T	7.37:g.20198440G>A	ENSP00000383185:p.Ser515Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	50	0.555556	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	920	0.42124542124542125	173	0.3516260162601626	107	0.2955801104972376	455	0.7954545454545454	185	0.24406332453825857	G	1.747	-0.490207	0.04322	0.289605	0.23814	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10668	2.85;2.85	5.93	5.05	0.67936	.	0.587313	0.19435	N	0.114325	T	0.00012	0.0000	M	0.72894	2.215	0.80722	P	0.0	B	0.15719	0.014	B	0.08055	0.003	T	0.26985	-1.0087	9	0.08599	T	0.76	-2.993	9.7127	0.40256	0.1959:0.0:0.8041:0.0	rs975263;rs52813696;rs58060920;rs975263	515	Q6ZN28	MACC1_HUMAN	L	515	ENSP00000383185:S515L;ENSP00000328410:S515L	ENSP00000328410:S515L	S	-	2	0	MACC1	20164965	0.076000	0.21285	0.010000	0.14722	0.895000	0.52256	2.152000	0.42272	1.510000	0.48803	0.655000	0.94253	TCG	G|0.652;N|0.000	.	strong		0.393	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		A	20198440	G	A	20198440	3	1	22	1	0	0	0	0	1	0	0	0	9143	1059	37	1	1026	1	MACC1	7	20198440	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1284231	20198440	138940223	4104	9212										
MACC1	346389	hgsc.bcm.edu	37	chr7	20199835	20199835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgaagggtgaaagcatccGgccaattgtgaagcaagtct	12	9	1	2	rs17142503	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20199835G>A	ENST00000400331.5	-	5	457	c.149C>T	c.(148-150)cCg>cTg	p.P50L	MACC1_ENST00000332878.4_Missense_Mutation_p.P50L|MACC1_ENST00000589011.1_Missense_Mutation_p.P50L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	50			P -> L (in dbSNP:rs17142503).		positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GAAAGCATCCGGCCAATTGTG	0.398													G|||	117	0.0233626	0.0802	0.0043	5008	,	,		16736	0.001		0.001	False		,,,				2504	0.0061				p.P50L		Atlas-SNP	.											MACC1,colon,carcinoma,-1,1	MACC1	99	1	0			c.C149T						PASS	.	G	LEU/PRO	269,4137	140.0+/-175.5	6,257,1940	75	76	76		149	4.9	0.1	7	dbSNP_123	76	6,8594	5.0+/-18.6	0,6,4294	yes	missense	MACC1	NM_182762.3	98	6,263,6234	AA,AG,GG		0.0698,6.1053,2.1144	benign	50/853	20199835	275,12731	2203	4300	6503	SO:0001583	missense	346389	exon5			GCATCCGGCCAAT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.149C>T	7.37:g.20199835G>A	ENSP00000383185:p.Pro50Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	23	0.010531135531135532	20	0.04065040650406504	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.20	1.284308	0.23392	0.061053	6.98E-4	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09538	2.97;2.97	5.82	4.95	0.65309	.	0.520649	0.21203	N	0.078429	T	0.01029	0.0034	L	0.40543	1.245	0.44469	D	0.997404	P	0.52692	0.955	B	0.42087	0.375	T	0.12192	-1.0557	10	0.54805	T	0.06	-2.2911	10.037	0.42135	0.0689:0.0:0.795:0.1362	rs17142503;rs17142503	50	Q6ZN28	MACC1_HUMAN	L	50	ENSP00000383185:P50L;ENSP00000328410:P50L	ENSP00000328410:P50L	P	-	2	0	MACC1	20166360	0.878000	0.30173	0.135000	0.22099	0.025000	0.11179	3.709000	0.54853	1.484000	0.48361	-0.198000	0.12761	CCG	G|0.982;A|0.018	0.018	strong		0.398	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		A	20199835	G	A	20199835	3	1	22	1	0	0	0	0	1	0	0	0	9143	1116	39	1	2421	1	MACC1	7	20199835	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1395	20199835	138938828	4105	9213										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20698270	20698270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccctggattcagaaagcAagtcagctgttcaagctgca	10	11	3	1	rs2301641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20698270A>G	ENST00000404938.2	+	14	2330	c.1678A>G	c.(1678-1680)Aag>Gag	p.K560E	ABCB5_ENST00000406935.1_Missense_Mutation_p.K115E|ABCB5_ENST00000443026.2_Missense_Mutation_p.K115E|ABCB5_ENST00000258738.6_Missense_Mutation_p.K115E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		K -> E (in dbSNP:rs2301641). {ECO:0000269|PubMed:15760339}.		antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGAAAGCAAGTCAGCTGT	0.433													G|||	1822	0.363818	0.584	0.3127	5008	,	,		19820	0.2024		0.328	False		,,,				2504	0.3057				p.K560E		Atlas-SNP	.											.	ABCB5	357	.	0			c.A1678G						PASS	.	G	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	2460,1946	552.4+/-378.5	699,1062,442	98	86	90		1678,343,343,343	4.7	0.6	7	dbSNP_100	90	2742,5858	680.3+/-403.6	438,1866,1996	yes	missense,missense,missense,missense	ABCB5	NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5	56,56,56,56	1137,2928,2438	GG,GA,AA		31.8837,44.167,39.9969	benign,benign,benign,benign	560/1258,115/132,115/127,115/813	20698270	5202,7804	2203	4300	6503	SO:0001583	missense	340273	exon14			GAAAGCAAGTCAG	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1678A>G	7.37:g.20698270A>G	ENSP00000384881:p.Lys560Glu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	84	57	0.678571	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	739	0.3383699633699634	256	0.5203252032520326	114	0.3149171270718232	117	0.20454545454545456	252	0.3324538258575198	G	1.621	-0.521441	0.04171	0.55833	0.318837	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	T;D;D;T	0.86956	-0.33;-2.19;-2.19;-0.33	5.58	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	N	0.000011	T	0.00012	0.0000	N	0.00028	-2.635	0.43994	P	0.003306999999999949	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	0.42799	-0.9430	9	0.02654	T	1	.	12.5024	0.55962	0.143:0.0:0.857:0.0	rs2301641;rs52809626;rs61332247;rs2301641	115;560;115;115	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	E	560;115;115;115	ENSP00000384881:K560E;ENSP00000406730:K115E;ENSP00000383899:K115E;ENSP00000258738:K115E	ENSP00000258738:K115E	K	+	1	0	ABCB5	20664795	1.000000	0.71417	0.610000	0.28997	0.006000	0.05464	6.508000	0.73721	1.511000	0.48818	-0.128000	0.14901	AAG	A|0.625;G|0.375	0.375	strong		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20698270	A	G	20698270	3	3	22	1	0	0	0	0	1	0	0	0	44	131	5	2	1728	2	ABCB5	7	20698270	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	498435	20698270	138440393	4106	9214										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20725366	20725366	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcaatgacatattctacTgaaagaaagaccaactcact	6	9	3	4	rs115722120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20725366T>G	ENST00000404938.2	+	16	2569	c.1917T>G	c.(1915-1917)acT>acG	p.T639T	ABCB5_ENST00000258738.6_Silent_p.T194T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	639					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CATATTCTACTGAAAGAAAGA	0.368													T|||	18	0.00359425	0.0129	0.0	5008	,	,		16557	0.0		0.001	False		,,,				2504	0.0				p.T639T		Atlas-SNP	.											.	ABCB5	357	.	0			c.T1917G						PASS	.	T	,	61,4345	58.1+/-94.6	0,61,2142	94	85	88		1917,582	1.8	0	7	dbSNP_132	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCB5	NM_001163941.1,NM_178559.5	,	0,61,6442	GG,GT,TT		0.0,1.3845,0.469	,	639/1258,194/813	20725366	61,12945	2203	4300	6503	SO:0001819	synonymous_variant	340273	exon16			TTCTACTGAAAGA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1917T>G	7.37:g.20725366T>G		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	185	85	0.459459	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																			T|0.995;G|0.005	0.005	strong		0.368	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20725366	T	G	20725366	2	3	22	1	0	0	0	0	0	0	0	1	44	1567	55	5		5	ABCB5	7	20725366	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27096	20725366	138413297	4107	9215										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20766752	20766752	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtatgaagagatgcttcaGactcaacacaggtgattata	9	6	2	4	rs35885925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20766752G>T	ENST00000404938.2	+	22	3367	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q460H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	905	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		Q -> H (in dbSNP:rs35885925).		antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGCTTCAGACTCAACACA	0.358													G|||	104	0.0207668	0.0756	0.0058	5008	,	,		18547	0.0		0.0	False		,,,				2504	0.0				p.Q905H		Atlas-SNP	.											.	ABCB5	357	.	0			c.G2715T						PASS	.	G	HIS/GLN,HIS/GLN	270,4136	154.0+/-187.5	9,252,1942	99	105	103		2715,1380	1.6	0.7	7	dbSNP_126	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	24,24	9,254,6240	TT,TG,GG		0.0233,6.128,2.0913	possibly-damaging,possibly-damaging	905/1258,460/813	20766752	272,12734	2203	4300	6503	SO:0001583	missense	340273	exon22			GCTTCAGACTCAA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2715G>T	7.37:g.20766752G>T	ENSP00000384881:p.Gln905His	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	36	0.016483516483516484	35	0.07113821138211382	1	0.0027624309392265192	0	0.0	0	0.0	G	5.753	0.323381	0.10900	0.06128	2.33E-4	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90197	-2.63;-2.63	4.43	1.61	0.23674	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.332317	0.24615	N	0.037015	T	0.39545	0.1082	L	0.55990	1.75	0.23260	N	0.998027	B;B;B	0.18310	0.027;0.01;0.003	B;B;B	0.21546	0.035;0.025;0.021	T	0.62900	-0.6756	10	0.46703	T	0.11	.	6.0759	0.19915	0.1851:0.1728:0.6421:0.0	rs35885925;rs57355100	905;83;460	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	H	905;460	ENSP00000384881:Q905H;ENSP00000258738:Q460H	ENSP00000258738:Q460H	Q	+	3	2	ABCB5	20733277	0.952000	0.32445	0.664000	0.29753	0.655000	0.38815	1.962000	0.40442	0.362000	0.24319	0.655000	0.94253	CAG	G|0.979;T|0.021	0.021	strong		0.358	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20766752	G	T	20766752	3	4	22	1	0	0	0	0	1	0	0	0	44	933	33	4	2838	4	ABCB5	7	20766752	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41386	20766752	138371911	4108	9216										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20784910	20784910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtggctccgttcccaaaTagcaatcgttcctcaagagc	8	13	1	1	rs60197951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:20784910T>C	ENST00000404938.2	+	26	3930	c.3278T>C	c.(3277-3279)aTa>aCa	p.I1093T	ABCB5_ENST00000258738.6_Missense_Mutation_p.I648T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1093	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGTTCCCAAATAGCAATCGTT	0.458													T|||	75	0.014976	0.0484	0.0101	5008	,	,		19479	0.0		0.003	False		,,,				2504	0.001				p.I1093T		Atlas-SNP	.											.	ABCB5	357	.	0			c.T3278C						PASS	.	T	THR/ILE,THR/ILE	247,4159	144.2+/-179.2	7,233,1963	152	140	144		3278,1943	0.3	0.9	7	dbSNP_129	144	30,8570	21.6+/-65.8	0,30,4270	yes	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	89,89	7,263,6233	CC,CT,TT		0.3488,5.606,2.1298	benign,benign	1093/1258,648/813	20784910	277,12729	2203	4300	6503	SO:0001583	missense	340273	exon26			CCCAAATAGCAAT	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3278T>C	7.37:g.20784910T>C	ENSP00000384881:p.Ile1093Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	133	68	0.511278	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	37	0.01694139194139194	31	0.06300813008130081	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	11.16	1.557490	0.27827	0.05606	0.003488	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.95137	-3.62;-3.62	5.32	0.314	0.15847	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.178795	0.35235	N	0.003360	T	0.63248	0.2495	L	0.46670	1.46	0.28541	N	0.912097	B;B	0.18863	0.031;0.006	B;B	0.32724	0.151;0.021	T	0.76756	-0.2842	10	0.59425	D	0.04	.	8.784	0.34809	0.0:0.321:0.0:0.679	rs60197951;rs61732048	1093;648	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	T	1093;648	ENSP00000384881:I1093T;ENSP00000258738:I648T	ENSP00000258738:I648T	I	+	2	0	ABCB5	20751435	1.000000	0.71417	0.942000	0.38095	0.504000	0.33889	4.131000	0.57970	0.095000	0.17434	-0.250000	0.11733	ATA	T|0.981;C|0.019	0.019	strong		0.458	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		C	20784910	T	C	20784910	3	2	22	1	0	0	0	0	1	0	0	0	44	1406	49	2	3417	2	ABCB5	7	20784910	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18158	20784910	138353753	4109	9217										
RAPGEF5	9771	hgsc.bcm.edu	37	chr7	22202117	22202117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacgtttcctacgcggaacGtctgagttttcctctttgcc	8	12	2	1	rs12592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:22202117G>A	ENST00000401957.2	-	3	664	c.417C>T	c.(415-417)gaC>gaT	p.D139D	RAPGEF5_ENST00000344041.6_Silent_p.D289D			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	139	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACGCGGAACGTCTGAGTTTT	0.343													A|||	2976	0.594249	0.6815	0.438	5008	,	,		19331	0.6062		0.5557	False		,,,				2504	0.6145				p.D289D		Atlas-SNP	.											.	RAPGEF5	96	.	0			c.C867T						PASS	.	A		2428,1258		802,824,217	75	74	74		867	-0.1	1	7	dbSNP_52	74	4501,3669		1249,2003,833	no	coding-synonymous	RAPGEF5	NM_012294.3		2051,2827,1050	AA,AG,GG		44.9082,34.1291,41.557		289/731	22202117	6929,4927	1843	4085	5928	SO:0001819	synonymous_variant	9771	exon13			CGGAACGTCTGAG	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.417C>T	7.37:g.22202117G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	108	54	0.5	NM_012294	A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37																																																																																				G|0.404;A|0.596	0.596	strong		0.343	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		A	22202117	G	A	22202117	2	1	22	1	0	0	0	0	0	0	0	1	13047	1136	40	1		1	RAPGEF5	7	22202117	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1417207	22202117	136936546	4110	9218										
GPNMB	10457	hgsc.bcm.edu	37	chr7	23300352	23300352	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggaccttgtccgccaccGccaccaccacccagaccttc	6	22	0	1	rs35115002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:23300352G>T	ENST00000381990.2	+	6	1139	c.978G>T	c.(976-978)ccG>ccT	p.P326P	GPNMB_ENST00000539136.1_Silent_p.P227P|GPNMB_ENST00000258733.4_Silent_p.P326P|GPNMB_ENST00000453162.2_Silent_p.P268P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	326	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.				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)			GTCCGCCACCGCCACCACCAC	0.493													G|||	11	0.00219649	0.0083	0.0	5008	,	,		18491	0.0		0.0	False		,,,				2504	0.0				p.P326P		Atlas-SNP	.											.	GPNMB	88	.	0			c.G978T						PASS	.	G	,	58,4348	56.2+/-92.4	0,58,2145	119	128	125		978,978	-0.3	0	7	dbSNP_126	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPNMB	NM_001005340.1,NM_002510.2	,	0,58,6445	TT,TG,GG		0.0,1.3164,0.4459	,	326/573,326/561	23300352	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	10457	exon6			GCCACCGCCACCA	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.978G>T	7.37:g.23300352G>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_002510	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																			G|0.995;T|0.005	0.005	strong		0.493	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23300352	G	T	23300352	2	4	22	1	0	0	0	0	0	0	0	1	6620	1074	38	4		4	GPNMB	7	23300352	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1098235	23300352	135838311	4111	9219										
STK31	56164	hgsc.bcm.edu	37	chr7	23751736	23751736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtttttcaggaattgttcaAatggatgaagatacacatta	8	4	2	2	rs7779633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:23751736A>G	ENST00000355870.3	+	2	188	c.69A>G	c.(67-69)caA>caG	p.Q23Q	STK31_ENST00000433467.2_Silent_p.Q23Q|STK31_ENST00000354639.3_5'UTR|STK31_ENST00000428484.1_5'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	23						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAATTGTTCAAATGGATGAAG	0.279													A|||	1928	0.384984	0.503	0.353	5008	,	,		17811	0.3571		0.3519	False		,,,				2504	0.3108				p.Q23Q		Atlas-SNP	.											STK31,NS,carcinoma,+1,1	STK31	175	1	0			c.A69G						PASS	.	A	,,	2059,2347	565.2+/-381.6	493,1073,637	138	139	138		,69,	-2.3	1	7	dbSNP_116	138	2910,5690	452.7+/-363.0	472,1966,1862	no	utr-5,coding-synonymous,utr-5	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	,,	965,3039,2499	GG,GA,AA		33.8372,46.7317,38.2054	,,	,23/1020,	23751736	4969,8037	2203	4300	6503	SO:0001819	synonymous_variant	56164	exon2			TGTTCAAATGGAT	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.69A>G	7.37:g.23751736A>G		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	144	143	0.993056	NM_031414	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																			A|0.618;G|0.382	0.382	strong		0.279	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23751736	A	G	23751736	2	3	22	1	0	0	0	0	0	0	0	1	15295	11	1	2		2	STK31	7	23751736	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	451384	23751736	135386927	4112	9220										
NPY	4852	hgsc.bcm.edu	37	chr7	24329133	24329133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagatatggaaaacgatcCagcccagagacactgatttc	8	11	0	3	rs5574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:24329133C>T	ENST00000407573.1	+	4	494	c.204C>T	c.(202-204)tcC>tcT	p.S68S	NPY_ENST00000242152.2_Silent_p.S68S|NPY_ENST00000405982.1_Silent_p.S68S			P01303	NPY_HUMAN	neuropeptide Y	68					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAAAACGATCCAGCCCAGAGA	0.398													T|||	1874	0.374201	0.3343	0.4308	5008	,	,		16610	0.3452		0.4702	False		,,,				2504	0.319				p.S68S		Atlas-SNP	.											.	NPY	25	.	0			c.C204T						PASS	.	T		1569,2837	668.4+/-402.0	290,989,924	109	104	106		204	-1	1	7	dbSNP_52	106	4029,4571	596.9+/-393.7	934,2161,1205	no	coding-synonymous	NPY	NM_000905.3		1224,3150,2129	TT,TC,CC		46.8488,35.6105,43.0417		68/98	24329133	5598,7408	2203	4300	6503	SO:0001819	synonymous_variant	4852	exon3			ACGATCCAGCCCA	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.204C>T	7.37:g.24329133C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_000905		Silent	SNP	ENST00000407573.1	37	CCDS5387.1																																																																																			C|0.579;A|0.002	.	strong		0.398	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		T	24329133	C	T	24329133	2	4	22	1	0	0	0	0	0	0	0	1	10607	581	21	2		2	NPY	7	24329133	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	577397	24329133	134809530	4113	9221										
C7orf31	136895	hgsc.bcm.edu	37	chr7	25182405	25182405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggttttgggtagaatactGgcttatttttctcaacacct	9	7	1	1	rs11984293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:25182405G>T	ENST00000409280.1	-	8	1021	c.713C>A	c.(712-714)cCa>cAa	p.P238Q	C7orf31_ENST00000283905.3_Missense_Mutation_p.P238Q			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	238			P -> Q (in dbSNP:rs11984293). {ECO:0000269|PubMed:15489334}.							autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTAGAATACTGGCTTATTTTT	0.368													G|||	1043	0.208267	0.416	0.1167	5008	,	,		17166	0.1587		0.167	False		,,,				2504	0.0859				p.P238Q		Atlas-SNP	.											.	C7orf31	53	.	0			c.C713A						PASS	.	G	GLN/PRO	1721,2685	514.7+/-368.7	366,989,848	84	90	88		713	4.6	1	7	dbSNP_120	88	1219,7381	243.9+/-273.3	71,1077,3152	yes	missense	C7orf31	NM_138811.3	76	437,2066,4000	TT,TG,GG		14.1744,39.0604,22.605	benign	238/591	25182405	2940,10066	2203	4300	6503	SO:0001583	missense	136895	exon8			AATACTGGCTTAT	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.713C>A	7.37:g.25182405G>T	ENSP00000386604:p.Pro238Gln	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	141	49	0.347518	NM_138811	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	CCDS5394.1	467	0.21382783882783882	199	0.40447154471544716	46	0.1270718232044199	93	0.16258741258741258	129	0.17018469656992086	G	8.678	0.904534	0.17760	0.390604	0.141744	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06068	3.35;3.35	5.51	4.55	0.56014	.	0.233450	0.33895	N	0.004443	T	0.00012	0.0000	N	0.20986	0.625	0.35616	P	0.19092600000000004	P	0.35745	0.518	B	0.32533	0.147	T	0.30475	-0.9977	9	0.06365	T	0.9	-43.9912	7.4526	0.27248	0.0:0.1327:0.5487:0.3186	rs11984293;rs52799441;rs58679665;rs11984293	238	Q8N865	CG031_HUMAN	Q	238	ENSP00000386604:P238Q;ENSP00000283905:P238Q	ENSP00000283905:P238Q	P	-	2	0	C7orf31	25148930	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.457000	0.53007	2.594000	0.87642	0.484000	0.47621	CCA	G|0.777;T|0.223	0.223	strong		0.368	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		T	25182405	G	T	25182405	3	4	22	1	0	0	0	0	1	0	0	0	2387	1348	47	4	1071	4	C7orf31	7	25182405	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	853272	25182405	133956258	4114	9222										
NFE2L3	9603	hgsc.bcm.edu	37	chr7	26224668	26224668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggtgctataggttattgCactgaccatgaatctagttc	10	7	1	2	rs2074566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:26224668C>T	ENST00000056233.3	+	4	1609	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	450					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TAGGTTATTGCACTGACCATG	0.423													T|||	1783	0.35603	0.5325	0.2565	5008	,	,		22551	0.5466		0.1203	False		,,,				2504	0.2342				p.C450C		Atlas-SNP	.											.	NFE2L3	77	.	0			c.C1350T						PASS	.	T		2044,2362	609.9+/-391.4	468,1108,627	156	167	163		1350	-5.4	0	7	dbSNP_96	163	865,7735	779.5+/-407.7	52,761,3487	no	coding-synonymous	NFE2L3	NM_004289.6		520,1869,4114	TT,TC,CC		10.0581,46.3913,22.3666		450/695	26224668	2909,10097	2203	4300	6503	SO:0001819	synonymous_variant	9603	exon4			TTATTGCACTGAC	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1350C>T	7.37:g.26224668C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	CCDS5396.1																																																																																			C|0.790;T|0.210	0.210	strong		0.423	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26224668	C	T	26224668	2	4	22	1	0	0	0	0	0	0	0	1	10369	718	25	2		2	NFE2L3	7	26224668	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1042263	26224668	132913995	4115	9223										
HNRNPA2B1	3181	hgsc.bcm.edu	37	chr7	26236235	26236235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgtctagacaaagccttTcttacttctgcattatgacc	5	11	4	2	rs34317198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:26236235T>C	ENST00000354667.4	-	6	723	c.555A>G	c.(553-555)agA>agG	p.R185R	HNRNPA2B1_ENST00000356674.7_Silent_p.R173R	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	185	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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 transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACAAAGCCTTTCTTACTTCTG	0.323			T	ETV1	prostate								T|||	259	0.0517173	0.1861	0.0173	5008	,	,		19739	0.0		0.001	False		,,,				2504	0.0				p.R185R		Atlas-SNP	.		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	.	HNRNPA2B1	70	.	0			c.A555G						PASS	.	T	,	677,3729	285.5+/-278.2	40,597,1566	168	179	176		519,555	4.9	1	7	dbSNP_126	176	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous	HNRNPA2B1	NM_002137.3,NM_031243.2	,	40,603,5860	CC,CT,TT		0.0698,15.3654,5.2514	,	173/342,185/354	26236235	683,12323	2203	4300	6503	SO:0001819	synonymous_variant	3181	exon6			AGCCTTTCTTACT	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.555A>G	7.37:g.26236235T>C		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	170	78	0.458824	NM_031243	A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	ENST00000354667.4	37	CCDS43557.1																																																																																			T|0.935;C|0.065	0.065	strong		0.323	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		C	26236235	T	C	26236235	2	2	22	1	0	0	0	0	0	0	0	1	7259	1780	62	2		2	HNRNPA2B1	7	26236235	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11567	26236235	132902428	4116	9224										
CPVL	54504	hgsc.bcm.edu	37	chr7	29070320	29070320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccatgcccatcaaggagCgctctgtcagggcagctgcc	12	14	3	0	rs1052200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:29070320C>T	ENST00000409850.1	-	16	1839	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	CPVL_ENST00000265394.5_Missense_Mutation_p.R398H|CPVL_ENST00000396276.3_Missense_Mutation_p.R398H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	398			R -> H (in dbSNP:rs1052200). {ECO:0000269|PubMed:11401439, ECO:0000269|Ref.2}.			extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CATCAAGGAGCGCTCTGTCAG	0.463													C|||	1029	0.205471	0.1604	0.281	5008	,	,		19449	0.2649		0.1521	False		,,,				2504	0.2065				p.R398H		Atlas-SNP	.											.	CPVL	60	.	0			c.G1193A						PASS	.	C	HIS/ARG,HIS/ARG	695,3711	291.3+/-281.4	48,599,1556	128	126	127		1193,1193	2	1	7	dbSNP_86	127	1227,7373	247.5+/-275.5	89,1049,3162	yes	missense,missense	CPVL	NM_019029.2,NM_031311.3	29,29	137,1648,4718	TT,TC,CC		14.2674,15.7739,14.7778	benign,benign	398/477,398/477	29070320	1922,11084	2203	4300	6503	SO:0001583	missense	54504	exon12			AAGGAGCGCTCTG	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1193G>A	7.37:g.29070320C>T	ENSP00000387164:p.Arg398His	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	209	109	0.521531	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	420	0.19230769230769232	69	0.1402439024390244	81	0.22375690607734808	150	0.26223776223776224	120	0.158311345646438	C	9.868	1.198280	0.22037	0.157739	0.142674	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.71	1.97	0.26223	.	0.161882	0.53938	N	0.000047	T	0.00012	0.0000	L	0.56199	1.76	0.22305	P	0.99921311	P	0.35612	0.512	B	0.31614	0.133	T	0.37103	-0.9720	9	0.15499	T	0.54	0.0711	9.3878	0.38354	0.0:0.7059:0.0:0.2941	rs1052200;rs3192630;rs52825107;rs61626281;rs1052200	398	Q9H3G5	CPVL_HUMAN	H	398;398;63;398	ENSP00000265394:R398H;ENSP00000379572:R398H;ENSP00000403580:R63H;ENSP00000387164:R398H	ENSP00000265394:R398H	R	-	2	0	CPVL	29036845	0.998000	0.40836	0.995000	0.50966	0.051000	0.14879	1.058000	0.30504	0.364000	0.24374	-0.203000	0.12734	CGC	C|0.836;T|0.163	0.163	strong		0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29070320	C	T	29070320	3	4	22	1	0	0	0	0	1	0	0	0	3835	768	27	1	245	1	CPVL	7	29070320	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2834085	29070320	130068343	4117	9225										
WIPF3	644150	hgsc.bcm.edu	37	chr7	29924002	29924002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgccgcccccgctccccCcttatgcttcttgctccccg	6	25	1	0	rs371924598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:29924002C>A	ENST00000409290.1	+	4	892	c.892C>A	c.(892-894)Cct>Act	p.P298T	WIPF3_ENST00000409123.1_Missense_Mutation_p.P298T|WIPF3_ENST00000242140.5_Missense_Mutation_p.P298T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	298	Poly-Pro.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCGCTCCCCCCTTATGCTTC	0.672													C|||	18	0.00359425	0.0129	0.0	5008	,	,		5386	0.001		0.0	False		,,,				2504	0.0				p.P298T		Atlas-SNP	.											.	WIPF3	46	.	0			c.C892A						PASS	.	C	THR/PRO	24,3134		0,24,1555	4	4	4		892	1	0	7		4	2,7334		0,2,3666	no	missense	WIPF3	NM_001080529.2	38	0,26,5221	AA,AC,CC		0.0273,0.76,0.2478	benign	298/484	29924002	26,10468	1579	3668	5247	SO:0001583	missense	644150	exon5			CTCCCCCCTTATG	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.892C>A	7.37:g.29924002C>A	ENSP00000386878:p.Pro298Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	140	69	0.492857	NM_001080529	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	6.789	0.514559	0.12944	0.0076	2.73E-4	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.43688	0.94;0.94;0.94	4.02	0.979	0.19745	.	0.460073	0.18939	N	0.126985	T	0.16300	0.0392	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15350	-1.0440	10	0.21014	T	0.42	.	11.6236	0.51132	0.4549:0.5451:0.0:0.0	.	298	A6NGB9	WIPF3_HUMAN	T	298	ENSP00000386790:P298T;ENSP00000386878:P298T;ENSP00000242140:P298T	ENSP00000242140:P298T	P	+	1	0	WIPF3	29890527	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.063000	0.11655	-0.325000	0.08577	-1.624000	0.00789	CCT	.	.	weak		0.672	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			A	29924002	C	A	29924002	3	1	22	1	0	0	0	0	1	0	0	0	17366	623	22	4	906	4	WIPF3	7	29924002	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	853682	29924002	129214661	4118	9226										
SCRN1	9805	hgsc.bcm.edu	37	chr7	29980471	29980471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtggtgagcgaaagctgaCtgcaaatgcacctcactccc	10	12	1	2	rs35960711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:29980471C>T	ENST00000426154.1	-	5	742	c.566G>A	c.(565-567)aGt>aAt	p.S189N	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.S189N|SCRN1_ENST00000425819.2_Missense_Mutation_p.S121N|SCRN1_ENST00000409497.1_Missense_Mutation_p.S189N|SCRN1_ENST00000434476.2_Missense_Mutation_p.S209N	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	189			S -> N (in dbSNP:rs35960711).		exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CGAAAGCTGACTGCAAATGCA	0.453													T|||	345	0.0688898	0.1029	0.0432	5008	,	,		18985	0.0645		0.0388	False		,,,				2504	0.0767				p.S209N		Atlas-SNP	.											.	SCRN1	85	.	0			c.G626A						PASS	.	T	ASN/SER,ASN/SER,ASN/SER,ASN/SER	456,3950	783.9+/-414.7	17,422,1764	115	115	115		566,626,362,566	3	0.8	7	dbSNP_126	115	353,8247	803.4+/-407.3	7,339,3954	yes	missense,missense,missense,missense	SCRN1	NM_001145513.1,NM_001145514.1,NM_001145515.1,NM_014766.4	46,46,46,46	24,761,5718	TT,TC,CC		4.1047,10.3495,6.2202	benign,benign,benign,benign	189/415,209/435,121/347,189/415	29980471	809,12197	2203	4300	6503	SO:0001583	missense	9805	exon5			AGCTGACTGCAAA	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.566G>A	7.37:g.29980471C>T	ENSP00000409068:p.Ser189Asn	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	58	35	0.603448	NM_001145514	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	133	0.060897435897435896	36	0.07317073170731707	16	0.04419889502762431	51	0.08916083916083917	30	0.0395778364116095	T	3.443	-0.113555	0.06881	0.103495	0.041047	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.58	3.05	0.35203	.	0.145037	0.46758	N	0.000263	T	0.00073	0.0002	N	0.00003	-3.405	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30937	-0.9961	9	.	.	.	-15.3602	6.1577	0.20346	0.0:0.1478:0.1352:0.717	rs35960711	209;189	C9JPG0;Q12765	.;SCRN1_HUMAN	N	189;189;121;189;209;189	ENSP00000242059:S189N;ENSP00000409068:S189N;ENSP00000414245:S121N;ENSP00000386872:S189N;ENSP00000388942:S209N;ENSP00000413184:S189N	.	S	-	2	0	SCRN1	29946996	1.000000	0.71417	0.756000	0.31282	0.734000	0.41952	2.621000	0.46418	0.395000	0.25257	-0.332000	0.08345	AGT	C|0.936;T|0.064	0.064	strong		0.453	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		T	29980471	C	T	29980471	3	4	22	1	0	0	0	0	1	0	0	0	13938	565	20	2	694	2	SCRN1	7	29980471	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56469	29980471	129158192	4119	9227										
FKBP14	55033	hgsc.bcm.edu	37	chr7	30054492	30054492	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgtttttcaaactccttCtttaaatatgctttaaccta	2	10	2	0	rs142474407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30054492C>T	ENST00000222803.5	-	4	670	c.495G>A	c.(493-495)aaG>aaA	p.K165K	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	165	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CAAACTCCTTCTTTAAATATG	0.348													C|||	10	0.00199681	0.0076	0.0	5008	,	,		14950	0.0		0.0	False		,,,				2504	0.0				p.K165K		Atlas-SNP	.											.	FKBP14	18	.	0			c.G495A						PASS	.	C		39,4367	38.4+/-70.7	1,37,2165	85	80	82		495	5	1	7	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FKBP14	NM_017946.2		1,38,6464	TT,TC,CC		0.0116,0.8852,0.3076		165/212	30054492	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	55033	exon4			CTCCTTCTTTAAA	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"EF-hand domain containing"	18625	protein-coding gene	gene with protein product		614505	"FK506 binding protein 14 (22 kDa)"			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.495G>A	7.37:g.30054492C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	66	42	0.636364	NM_017946		Silent	SNP	ENST00000222803.5	37	CCDS5423.1																																																																																			C|0.997;T|0.003	0.003	strong		0.348	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		T	30054492	C	T	30054492	2	4	22	1	0	0	0	0	0	0	0	1	5904	912	32	2		2	FKBP14	7	30054492	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74021	30054492	129084171	4120	9228										
NOD1	10392	hgsc.bcm.edu	37	chr7	30491081	30491081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgcagcatccagatgaacGtgggcatggcctgcacctgg	14	12	0	2	rs151170709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30491081G>A	ENST00000222823.4	-	6	2477	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	651					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGATGAACGTGGGCATGGC	0.622													G|||	4	0.000798722	0.003	0.0	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.0				p.T651M		Atlas-SNP	.											.	NOD1	79	.	0			c.C1952T						PASS	.	G	MET/THR	18,4388	26.2+/-53.5	0,18,2185	44	45	45		1952	5.6	1	7	dbSNP_134	45	0,8600		0,0,4300	yes	missense	NOD1	NM_006092.2	81	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	probably-damaging	651/954	30491081	18,12988	2203	4300	6503	SO:0001583	missense	10392	exon6			ATGAACGTGGGCA	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1952C>T	7.37:g.30491081G>A	ENSP00000222823:p.Thr651Met	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	63	34	0.539683	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	17.46	3.395795	0.62177	0.004085	0.0	ENSG00000106100	ENST00000222823	T	0.71103	-0.54	5.61	5.61	0.85477	.	0.192032	0.52532	D	0.000072	T	0.70046	0.3179	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	P	0.54706	0.759	T	0.74636	-0.3599	10	0.49607	T	0.09	.	12.283	0.54776	0.0:0.0:0.7325:0.2675	.	651	Q9Y239	NOD1_HUMAN	M	651	ENSP00000222823:T651M	ENSP00000222823:T651M	T	-	2	0	NOD1	30457606	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.689000	0.68234	2.652000	0.90054	0.655000	0.94253	ACG	G|0.998;A|0.002	0.002	strong		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30491081	G	A	30491081	3	1	22	1	0	0	0	0	1	0	0	0	10516	1145	40	1	945	1	NOD1	7	30491081	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	436589	30491081	128647582	4121	9229										
NOD1	10392	hgsc.bcm.edu	37	chr7	30491311	30491311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgaagaggtcttcccgCgccggaccactgccctgcag	11	15	2	2	rs2075821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30491311C>T	ENST00000222823.4	-	6	2247	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	574					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGTCTTCCCGCGCCGGACCAC	0.602													C|||	1589	0.317292	0.3321	0.1643	5008	,	,		18471	0.3849		0.2366	False		,,,				2504	0.4192				p.A574A		Atlas-SNP	.											.	NOD1	79	.	0			c.G1722A						PASS	.	C		1429,2977	459.6+/-352.3	242,945,1016	54	60	58		1722	-10.6	0	7	dbSNP_96	58	2227,6373	377.2+/-338.5	318,1591,2391	no	coding-synonymous	NOD1	NM_006092.2		560,2536,3407	TT,TC,CC		25.8953,32.433,28.1101		574/954	30491311	3656,9350	2203	4300	6503	SO:0001819	synonymous_variant	10392	exon6			TTCCCGCGCCGGA	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1722G>A	7.37:g.30491311C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	60	35	0.583333	NM_006092	B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	CCDS5427.1																																																																																			C|0.707;T|0.293	0.293	strong		0.602	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			T	30491311	C	T	30491311	2	4	22	1	0	0	0	0	0	0	0	1	10516	755	27	1		1	NOD1	7	30491311	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	230	30491311	128647352	4122	9230										
NOD1	10392	hgsc.bcm.edu	37	chr7	30492237	30492237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaaggcaaacacctcctCggggtcccgctctgggtagc	13	14	1	0	rs2075820|rs398087981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30492237C>T	ENST00000222823.4	-	6	1321	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NOD1_ENST00000423334.2_Silent_p.P220P	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	266	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		E -> K (in dbSNP:rs2075820).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AACACCTCCTCGGGGTCCCGC	0.617													C|||	1690	0.33746	0.4032	0.1758	5008	,	,		18812	0.3869		0.2326	False		,,,				2504	0.4202				p.E266K		Atlas-SNP	.											.	NOD1	79	.	0			c.G796A	GRCh37	CM076359	NOD1	M	rs2075820	PASS	.	C	LYS/GLU	1670,2736	488.3+/-361.2	321,1028,854	69	67	68		796	5.5	0.8	7	dbSNP_96	68	2110,6490	351.5+/-328.3	282,1546,2472	yes	missense	NOD1	NM_006092.2	56	603,2574,3326	TT,TC,CC		24.5349,37.9029,29.0635	benign	266/954	30492237	3780,9226	2203	4300	6503	SO:0001583	missense	10392	exon6			CCTCCTCGGGGTC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.796G>A	7.37:g.30492237C>T	ENSP00000222823:p.Glu266Lys	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	649	0.29716117216117216	195	0.39634146341463417	76	0.20994475138121546	209	0.36538461538461536	169	0.22295514511873352	C	16.00	2.999294	0.54147	0.379029	0.245349	ENSG00000106100	ENST00000222823	T	0.79033	-1.23	5.54	5.54	0.83059	NACHT nucleoside triphosphatase (1);	0.640387	0.17056	N	0.188744	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	0.9999999847827	P	0.47545	0.897	B	0.38156	0.266	T	0.36237	-0.9756	9	0.26408	T	0.33	.	11.8004	0.52124	0.0:0.9113:0.0:0.0887	rs2075820;rs60510801;rs2075820	266	Q9Y239	NOD1_HUMAN	K	266	ENSP00000222823:E266K	ENSP00000222823:E266K	E	-	1	0	NOD1	30458762	0.667000	0.27484	0.795000	0.32087	0.978000	0.69477	2.119000	0.41958	2.602000	0.87976	0.563000	0.77884	GAG	T|0.303;G|0.002	0.303	strong		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			T	30492237	C	T	30492237	3	4	22	1	0	0	0	0	1	0	0	0	10516	893	31	1	2101	1	NOD1	7	30492237	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	926	30492237	128646426	4123	9231										
NOD1	10392	hgsc.bcm.edu	37	chr7	30492550	30492550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaccagctccatgatggtGtccatgtagatctcctccag	8	14	1	2	rs2235099|rs72551114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30492550G>A	ENST00000222823.4	-	6	1008	c.483C>T	c.(481-483)gaC>gaT	p.D161D	NOD1_ENST00000423334.2_Silent_p.D161D	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCATGATGGTGTCCATGTAGA	0.597													G|||	1693	0.338059	0.4024	0.1758	5008	,	,		19153	0.3869		0.2326	False		,,,				2504	0.4243				p.D161D		Atlas-SNP	.											.	NOD1	79	.	0			c.C483T						PASS	.	G		1679,2727	510.4+/-367.5	323,1033,847	119	99	106		483	2.5	1	7	dbSNP_98	106	2119,6481	365.1+/-333.8	281,1557,2462	no	coding-synonymous	NOD1	NM_006092.2		604,2590,3309	AA,AG,GG		24.6395,38.1071,29.2019		161/954	30492550	3798,9208	2203	4300	6503	SO:0001819	synonymous_variant	10392	exon6			GATGGTGTCCATG	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.483C>T	7.37:g.30492550G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	96	54	0.5625	NM_006092	B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	CCDS5427.1																																																																																			G|0.895;A|0.105	0.105	strong		0.597	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30492550	G	A	30492550	2	1	22	1	0	0	0	0	0	0	0	1	10516	1368	48	2		2	NOD1	7	30492550	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313	30492550	128646113	4124	9232										
NOD1	10392	hgsc.bcm.edu	37	chr7	30496382	30496382	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacaatctccgcatcttcGgccgagaagtagtcattctt	7	13	4	1	rs2075818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30496382G>C	ENST00000222823.4	-	4	681	c.156C>G	c.(154-156)gcC>gcG	p.A52A	NOD1_ENST00000423334.2_Silent_p.A52A	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCGCATCTTCGGCCGAGAAGT	0.547													G|||	1849	0.369209	0.5166	0.1902	5008	,	,		18461	0.3859		0.2326	False		,,,				2504	0.4202				p.A52A		Atlas-SNP	.											.	NOD1	79	.	0			c.C156G						PASS	.	G		2093,2313	573.3+/-383.5	502,1089,612	126	112	116		156	-11.6	0	7	dbSNP_96	116	2137,6463	367.3+/-334.7	284,1569,2447	no	coding-synonymous	NOD1	NM_006092.2		786,2658,3059	CC,CG,GG		24.8488,47.5034,32.5235		52/954	30496382	4230,8776	2203	4300	6503	SO:0001819	synonymous_variant	10392	exon4			ATCTTCGGCCGAG	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.156C>G	7.37:g.30496382G>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	175	97	0.554286	NM_006092	B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	CCDS5427.1																																																																																			G|0.683;C|0.317	0.317	strong		0.547	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			C	30496382	G	C	30496382	2	2	22	1	0	0	0	0	0	0	0	1	10516	1103	39	4		4	NOD1	7	30496382	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3832	30496382	128642281	4125	9233										
GARS	2617	hgsc.bcm.edu	37	chr7	30673401	30673401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagccaatggcaacatcacAtgggctgatgtggaggccag	13	10	1	1	rs4593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30673401A>G	ENST00000389266.3	+	17	2386	c.2145A>G	c.(2143-2145)acA>acG	p.T715T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	715					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCAACATCACATGGGCTGATG	0.448													A|||	383	0.0764776	0.2474	0.0403	5008	,	,		18938	0.0		0.0278	False		,,,				2504	0.0				p.T715T		Atlas-SNP	.											.	GARS	52	.	0			c.A2145G						PASS	.	A		839,2989		84,671,1159	105	98	100		2145	-2.8	1	7	dbSNP_52	100	278,7986		4,270,3858	no	coding-synonymous	GARS	NM_002047.2		88,941,5017	GG,GA,AA		3.364,21.9175,9.2375		715/740	30673401	1117,10975	1914	4132	6046	SO:0001819	synonymous_variant	2617	exon17			CATCACATGGGCT	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.2145A>G	7.37:g.30673401A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	48	28	0.583333	NM_002047	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			A|0.940;G|0.060	0.060	strong		0.448	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30673401	A	G	30673401	2	3	22	1	0	0	0	0	0	0	0	1	6242	204	8	2		2	GARS	7	30673401	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	177019	30673401	128465262	4126	9234										
INMT	11185	hgsc.bcm.edu	37	chr7	30793532	30793532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccccagcggtgaaattcGcctgtgagctggaaggaaac	14	10	0	2	rs76338133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30793532G>A	ENST00000013222.5	+	2	356	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.A113T|INMT_ENST00000409539.1_Missense_Mutation_p.A113T|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	114					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGTGAAATTCGCCTGTGAGCT	0.577													G|||	66	0.0131789	0.0461	0.0072	5008	,	,		19308	0.0		0.0	False		,,,				2504	0.0				p.A114T		Atlas-SNP	.											.	INMT	38	.	0			c.G340A						PASS	.	G	THR/ALA,THR/ALA	191,4215	118.8+/-156.5	1,189,2013	55	63	60		337,340	3	0.1	7	dbSNP_131	60	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	INMT	NM_001199219.1,NM_006774.4	58,58	1,191,6311	AA,AG,GG		0.0233,4.335,1.4839	possibly-damaging,possibly-damaging	113/263,114/264	30793532	193,12813	2203	4300	6503	SO:0001583	missense	11185	exon2			AAATTCGCCTGTG		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.340G>A	7.37:g.30793532G>A	ENSP00000013222:p.Ala114Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	CCDS5430.1	27	0.012362637362637362	23	0.046747967479674794	4	0.011049723756906077	0	0.0	0	0.0	G	20.3	3.970206	0.74246	0.04335	2.33E-4	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03745	3.82;3.82	3.94	3.01	0.34805	.	0.359516	0.21052	N	0.080972	T	0.00524	0.0017	L	0.47716	1.5	0.26856	N	0.968062	P;P	0.42993	0.797;0.797	B;B	0.30855	0.121;0.121	T	0.44190	-0.9344	10	0.62326	D	0.03	-22.6315	8.8685	0.35300	0.1195:0.0:0.8805:0.0	.	113;114	B8ZZ69;O95050	.;INMT_HUMAN	T	114;113	ENSP00000013222:A114T;ENSP00000386961:A113T	ENSP00000013222:A114T	A	+	1	0	INMT	30760057	0.724000	0.28038	0.090000	0.20809	0.481000	0.33189	3.811000	0.55620	0.927000	0.37143	0.561000	0.74099	GCC	G|0.984;A|0.016	0.016	strong		0.577	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		A	30793532	G	A	30793532	3	1	22	1	0	0	0	0	1	0	0	0	7745	1087	38	1	346	1	INMT	7	30793532	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120131	30793532	128345131	4127	9235										
INMT	11185	hgsc.bcm.edu	37	chr7	30795146	30795146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggctgtgttgcctctcgcCgactgtgtgctcaccctgct	11	16	2	0	rs6966180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30795146C>T	ENST00000013222.5	+	3	487	c.471C>T	c.(469-471)gcC>gcT	p.A157A	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.A156A|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	157					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGCCTCTCGCCGACTGTGTGC	0.657													C|||	187	0.0373403	0.1346	0.013	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.0				p.A157A		Atlas-SNP	.											.	INMT	38	.	0			c.C471T						PASS	.	C	,	515,3891	239.0+/-250.2	33,449,1721	85	72	76		468,471	-8.1	0	7	dbSNP_116	76	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	INMT	NM_001199219.1,NM_006774.4	,	33,453,6017	TT,TC,CC		0.0465,11.6886,3.9905	,	156/263,157/264	30795146	519,12487	2203	4300	6503	SO:0001819	synonymous_variant	11185	exon3			TCTCGCCGACTGT		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.471C>T	7.37:g.30795146C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	51	23	0.45098	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																			C|0.962;T|0.038	0.038	strong		0.657	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		T	30795146	C	T	30795146	2	4	22	1	0	0	0	0	0	0	0	1	7745	639	23	1		1	INMT	7	30795146	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1614	30795146	128343517	4128	9236										
INMT	11185	hgsc.bcm.edu	37	chr7	30795412	30795412	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagctactctgtcaccaAtgctgccaacaatggggtct					rs6970210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30795412A>G	ENST00000013222.5	+	3	753	c.737A>G	c.(736-738)aAt>aGt	p.N246S	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.N245S|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	246			N -> S (in dbSNP:rs6970210).		amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TCTGTCACCAATGCTGCCAAC	0.597													A|||	207	0.0413339	0.1483	0.0159	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0				p.N246S		Atlas-SNP	.											.	INMT	38	.	0			c.A737G						PASS	.	A	SER/ASN,SER/ASN	581,3825	260.1+/-263.5	41,499,1663	105	101	102		734,737	-6.8	0	7	dbSNP_116	102	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense	INMT	NM_001199219.1,NM_006774.4	46,46	41,504,5958	GG,GA,AA		0.0581,13.1866,4.5056	benign,benign	245/263,246/264	30795412	586,12420	2203	4300	6503	SO:0001583	missense	11185	exon3			TCACCAATGCTGC		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.737A>G	7.37:g.30795412A>G	ENSP00000013222:p.Asn246Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	77	45	0.584416	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	CCDS5430.1	73	0.033424908424908424	69	0.1402439024390244	4	0.011049723756906077	0	0.0	0	0.0	A	0.146	-1.096522	0.01843	0.131866	5.81E-4	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03152	4.03;4.03	3.41	-6.82	0.01698	.	4.107550	0.00659	N	0.000590	T	0.00039	0.0001	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37572	-0.9700	10	0.22109	T	0.4	-17.7793	1.9244	0.03314	0.1854:0.2999:0.3321:0.1826	rs6970210;rs52804035;rs6970210	245;246	B8ZZ69;O95050	.;INMT_HUMAN	S	246;245	ENSP00000013222:N246S;ENSP00000386961:N245S	ENSP00000013222:N246S	N	+	2	0	INMT	30761937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.506000	0.00448	-4.223000	0.00063	-1.145000	0.01858	AAT	A|0.954;G|0.046	0.046	strong		0.597	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		G	30795412	A	G	30795412	3	3	22	1	0	0	0	0	1	0	0	0	7745	101	4	2	747	2	INMT	7	30795412	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	266	30795412	128343251	4129	9237	181	2								
INMT	11185	hgsc.bcm.edu	37	chr7	30795419	30795419	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactctgtcaccaatgctgcCaacaatggggtctgcttcat					rs35221354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30795419C>T	ENST00000013222.5	+	3	760	c.744C>T	c.(742-744)gcC>gcT	p.A248A	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.A247A|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	248					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCAATGCTGCCAACAATGGGG	0.592													C|||	272	0.0543131	0.1921	0.0259	5008	,	,		20160	0.0		0.0	False		,,,				2504	0.0				p.A248A		Atlas-SNP	.											INMT,NS,carcinoma,+1,1	INMT	38	1	0			c.C744T						PASS	.	C	,	710,3696	297.3+/-284.7	54,602,1547	99	96	97		741,744	3.4	0.1	7	dbSNP_126	97	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	INMT	NM_001199219.1,NM_006774.4	,	54,609,5840	TT,TC,CC		0.0814,16.1144,5.5128	,	247/263,248/264	30795419	717,12289	2203	4300	6503	SO:0001819	synonymous_variant	11185	exon3			TGCTGCCAACAAT		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.744C>T	7.37:g.30795419C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																			C|0.947;T|0.053	0.053	strong		0.592	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		T	30795419	C	T	30795419	2	4	22	1	0	0	0	0	0	0	0	1	7745	581	21	2		2	INMT	7	30795419	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	30795419	128343244	4130	9238	181	2								
INMT	11185	hgsc.bcm.edu	37	chr7	30795448	30795448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctgcttcattgtggctcGcaagaagcctgggccctgag	14	11	2	2	rs6970605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30795448G>A	ENST00000013222.5	+	3	789	c.773G>A	c.(772-774)cGc>cAc	p.R258H	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.R257H|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	258			R -> H (in dbSNP:rs6970605).		amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						ATTGTGGCTCGCAAGAAGCCT	0.572													G|||	223	0.0445288	0.146	0.0173	5008	,	,		19539	0.0		0.0099	False		,,,				2504	0.0082				p.R258H		Atlas-SNP	.											.	INMT	38	.	0			c.G773A						PASS	.	G	HIS/ARG,HIS/ARG	577,3829	258.3+/-262.4	40,497,1666	66	65	65		770,773	2.5	1	7	dbSNP_116	65	81,8519	46.7+/-105.8	0,81,4219	yes	missense,missense	INMT	NM_001199219.1,NM_006774.4	29,29	40,578,5885	AA,AG,GG		0.9419,13.0958,5.0592	possibly-damaging,possibly-damaging	257/263,258/264	30795448	658,12348	2203	4300	6503	SO:0001583	missense	11185	exon3			TGGCTCGCAAGAA		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.773G>A	7.37:g.30795448G>A	ENSP00000013222:p.Arg258His	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	CCDS5430.1	82	0.037545787545787544	68	0.13821138211382114	4	0.011049723756906077	0	0.0	10	0.013192612137203167	G	16.07	3.018941	0.54576	0.130958	0.009419	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03860	3.78;3.78	3.41	2.51	0.30379	.	0.519428	0.18005	N	0.154767	T	0.00109	0.0003	M	0.83774	2.66	0.25613	N	0.986477	D;D	0.61080	0.989;0.989	P;P	0.52386	0.697;0.697	T	0.07868	-1.0750	10	0.72032	D	0.01	.	8.7137	0.34399	0.0:0.2336:0.7664:0.0	rs6970605;rs6970605	257;258	B8ZZ69;O95050	.;INMT_HUMAN	H	258;257	ENSP00000013222:R258H;ENSP00000386961:R257H	ENSP00000013222:R258H	R	+	2	0	INMT	30761973	0.949000	0.32298	0.952000	0.39060	0.013000	0.08279	1.069000	0.30641	0.952000	0.37798	-0.305000	0.09177	CGC	G|0.956;A|0.044	0.044	strong		0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		A	30795448	G	A	30795448	3	1	22	1	0	0	0	0	1	0	0	0	7745	1087	38	1	783	1	INMT	7	30795448	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29	30795448	128343215	4131	9239										
FAM188B	84182	hgsc.bcm.edu	37	chr7	30831088	30831088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagcacagacacggacaGgatgcccttgaagctctact	11	13	1	2	rs35897481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30831088G>A	ENST00000265299.6	+	5	1048	c.971G>A	c.(970-972)aGg>aAg	p.R324K	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	324			R -> K (in dbSNP:rs35897481).							endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACACGGACAGGATGCCCTTG	0.642													G|||	815	0.16274	0.2224	0.0793	5008	,	,		19040	0.1409		0.0905	False		,,,				2504	0.2382				p.R324K		Atlas-SNP	.											.	FAM188B	62	.	0			c.G971A						PASS	.	G	LYS/ARG	719,3405		57,605,1400	50	63	58		971	0.8	0	7	dbSNP_126	58	691,7713		34,623,3545	yes	missense	FAM188B	NM_032222.2	26	91,1228,4945	AA,AG,GG		8.2223,17.4345,11.2548	benign	324/758	30831088	1410,11118	2062	4202	6264	SO:0001583	missense	84182	exon5			CGGACAGGATGCC	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.971G>A	7.37:g.30831088G>A	ENSP00000265299:p.Arg324Lys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	290	0.13278388278388278	104	0.21138211382113822	34	0.09392265193370165	80	0.13986013986013987	72	0.09498680738786279	G	1.495	-0.553703	0.03996	0.174345	0.082223	ENSG00000106125	ENST00000265299	T	0.03242	4.0	4.26	0.813	0.18749	.	0.928186	0.09238	N	0.829588	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	9	0.87932	D	0	-0.0755	4.5086	0.11899	0.2007:0.1914:0.6079:0.0	rs35897481	324	Q4G0A6	F188B_HUMAN	K	324	ENSP00000265299:R324K	ENSP00000265299:R324K	R	+	2	0	FAM188B	30797613	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.335000	0.19806	0.029000	0.15352	0.563000	0.77884	AGG	G|0.881;A|0.119	0.119	strong		0.642	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		A	30831088	G	A	30831088	3	1	22	1	0	0	0	0	1	0	0	0	5515	1000	35	2	989	2	FAM188B	7	30831088	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35640	30831088	128307575	4132	9240										
FAM188B	84182	hgsc.bcm.edu	37	chr7	30831144	30831144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggatgacccaggagaggCtggaaagagcgttcaaacgg	15	9	1	3	rs16875355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30831144C>T	ENST00000265299.6	+	5	1104	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	343										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGGAGAGGCTGGAAAGAGC	0.577													C|||	769	0.153554	0.323	0.0591	5008	,	,		19581	0.2054		0.0209	False		,,,				2504	0.0746				p.L343L		Atlas-SNP	.											.	FAM188B	62	.	0			c.C1027T						PASS	.	C		1052,3036		128,796,1120	40	50	47		1027	4.6	1	7	dbSNP_123	47	211,8197		4,203,3997	no	coding-synonymous	FAM188B	NM_032222.2		132,999,5117	TT,TC,CC		2.5095,25.7339,10.1072		343/758	30831144	1263,11233	2044	4204	6248	SO:0001819	synonymous_variant	84182	exon5			GAGAGGCTGGAAA	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1027C>T	7.37:g.30831144C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_032222	Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	CCDS43565.1																																																																																			C|0.861;T|0.139	0.139	strong		0.577	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		T	30831144	C	T	30831144	2	4	22	1	0	0	0	0	0	0	0	1	5515	796	28	2		2	FAM188B	7	30831144	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56	30831144	128307519	4133	9241										
FAM188B	84182	hgsc.bcm.edu	37	chr7	30915262	30915262	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctctttgagcattacaaCatgtgccaggtacccagatg					rs10215354|rs386711774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30915262C>T	ENST00000265299.6	+	15	2039	c.1962C>T	c.(1960-1962)aaC>aaT	p.N654N	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Silent_p.N117N|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	654										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCATTACAACATGTGCCAGG	0.512													C|||	1506	0.300719	0.6195	0.0893	5008	,	,		21536	0.2927		0.0567	False		,,,				2504	0.2791				p.N654N		Atlas-SNP	.											.	FAM188B	62	.	0			c.C1962T						PASS	.	C		1412,2644		461,490,1077	169	170	169		1962	-11.3	0.2	7	dbSNP_119	169	231,8189		23,185,4002	no	coding-synonymous	FAM188B	NM_032222.2		484,675,5079	TT,TC,CC		2.7435,34.8126,13.1693		654/758	30915262	1643,10833	2028	4210	6238	SO:0001819	synonymous_variant	84182	exon15			TTACAACATGTGC	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1962C>T	7.37:g.30915262C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	118	118	1	NM_032222	Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	CCDS43565.1																																																																																			C|0.858;T|0.142	0.142	strong		0.512	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		T	30915262	C	T	30915262	2	4	22	1	0	0	0	0	0	0	0	1	5515	477	17	2		2	FAM188B	7	30915262	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84118	30915262	128223401	4134	9242	182	2								
FAM188B	84182	hgsc.bcm.edu	37	chr7	30915263	30915263	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctctttgagcattacaacAtgtgccaggtacccagatgc					rs10216063|rs386711774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:30915263A>G	ENST00000265299.6	+	15	2040	c.1963A>G	c.(1963-1965)Atg>Gtg	p.M655V	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.M118V|AQP1_ENST00000434909.2_Start_Codon_SNP_p.M1V	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	655			M -> V (in dbSNP:rs10216063).							endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATTACAACATGTGCCAGGT	0.512													G|||	2302	0.459665	0.8775	0.1816	5008	,	,		21485	0.4157		0.162	False		,,,				2504	0.4438				p.M655V		Atlas-SNP	.											.	FAM188B	62	.	0			c.A1963G						PASS	.	G	VAL/MET	2708,1348		1046,616,366	164	167	166		1963	5.7	0.8	7	dbSNP_119	166	1184,7228		125,934,3147	yes	missense	FAM188B	NM_032222.2	21	1171,1550,3513	GG,GA,AA		14.0751,33.2347,31.2159	benign	655/758	30915263	3892,8576	2028	4206	6234	SO:0001583	missense	84182	exon15			TACAACATGTGCC	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1963A>G	7.37:g.30915263A>G	ENSP00000265299:p.Met655Val	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	721	0.3301282051282051	346	0.7032520325203252	71	0.19613259668508287	199	0.3479020979020979	105	0.13852242744063326	G	4.533	0.098978	0.08681	0.667653	0.140751	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;D;T	0.86297	1.68;-2.1;1.68	5.67	5.67	0.87782	.	0.126950	0.53938	N	0.000052	T	0.00012	0.0000	N	0.00246	-1.78	0.09310	P	1.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48547	-0.9026	9	0.87932	D	0	-8.7791	12.7176	0.57123	0.0796:0.0:0.9204:0.0	rs10216063;rs59668602;rs10216063	1;175;655	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	V	655;175;1;118	ENSP00000265299:M655V;ENSP00000395059:M1V;ENSP00000421315:M118V	ENSP00000265299:M655V	M	+	1	0	RP5-877J2.1;FAM188B;AQP1	30881788	1.000000	0.71417	0.791000	0.31998	0.852000	0.48524	4.590000	0.61013	1.434000	0.47414	-0.128000	0.14901	ATG	A|0.726;G|0.274	0.274	strong		0.512	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		G	30915263	A	G	30915263	3	3	22	1	0	0	0	0	1	0	0	0	5515	217	8	2	2021	2	FAM188B	7	30915263	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	30915263	128223400	4135	9243	182	2								
GHRHR	2692	hgsc.bcm.edu	37	chr7	31008686	31008686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctctatccaggctgccctGcgacctgggatgggctgctg	13	14	1	0	rs4988496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:31008686G>A	ENST00000326139.2	+	3	215	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	GHRHR_ENST00000409904.3_5'Flank|GHRHR_ENST00000409316.1_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	57			A -> T (in dbSNP:rs4988496).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AGGCTGCCCTGCGACCTGGGA	0.612													A|||	638	0.127396	0.3427	0.049	5008	,	,		17335	0.0615		0.0616	False		,,,				2504	0.0276				p.A57T		Atlas-SNP	.											.	GHRHR	55	.	0			c.G169A	GRCh37	CM005494	GHRHR	M	rs4988496	PASS	.	A	THR/ALA	1204,3198		167,870,1164	20	20	20		169	-7.8	0	7	dbSNP_113	20	492,8100		16,460,3820	yes	missense	GHRHR	NM_000823.3	58	183,1330,4984	AA,AG,GG		5.7263,27.3512,13.0522	benign	57/424	31008686	1696,11298	2201	4296	6497	SO:0001583	missense	2692	exon3			TGCCCTGCGACCT		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.169G>A	7.37:g.31008686G>A	ENSP00000320180:p.Ala57Thr	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	82	45	0.548781	NM_000823	Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	CCDS5432.1	255	0.11675824175824176	161	0.32723577235772355	17	0.04696132596685083	30	0.05244755244755245	47	0.06200527704485488	A	7.039	0.562074	0.13498	0.273512	0.057263	ENSG00000106128	ENST00000326139	T	0.63580	-0.05	4.64	-7.79	0.01218	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.00012	0.0000	N	0.03115	-0.41	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.15492	-1.0435	8	0.37606	T	0.19	.	2.4739	0.04571	0.1537:0.2235:0.4024:0.2204	rs4988496;rs52803549;rs58388240;rs4988496	57	Q02643	GHRHR_HUMAN	T	57	ENSP00000320180:A57T	ENSP00000320180:A57T	A	+	1	0	GHRHR	30975211	0.000000	0.05858	0.000000	0.03702	0.350000	0.29205	-0.548000	0.06048	-2.403000	0.00577	-0.260000	0.10688	GCG	G|0.861;A|0.139	0.139	strong		0.612	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			A	31008686	G	A	31008686	3	1	22	1	0	0	0	0	1	0	0	0	6373	1319	46	2	179	2	GHRHR	7	31008686	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93423	31008686	128129977	4136	9244										
GHRHR	2692	hgsc.bcm.edu	37	chr7	31009576	31009576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctggagctgctggctgaGgaggtaagagtcttctggca	15	9	3	2	rs4988498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:31009576G>T	ENST00000326139.2	+	4	409	c.363G>T	c.(361-363)gaG>gaT	p.E121D	GHRHR_ENST00000409904.3_Missense_Mutation_p.E57D|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	121			E -> D (in dbSNP:rs4988498).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TGCTGGCTGAGGAGGTAAGAG	0.567													G|||	321	0.0640974	0.1641	0.0303	5008	,	,		18180	0.002		0.0577	False		,,,				2504	0.0235				p.E121D		Atlas-SNP	.											.	GHRHR	55	.	0			c.G363T						PASS	.	G	ASP/GLU	622,3784	270.1+/-269.4	45,532,1626	112	94	100		363	2.3	1	7	dbSNP_113	100	464,8136	138.4+/-195.2	11,442,3847	yes	missense	GHRHR	NM_000823.3	45	56,974,5473	TT,TG,GG		5.3953,14.1171,8.35	benign	121/424	31009576	1086,11920	2203	4300	6503	SO:0001583	missense	2692	exon4			GGCTGAGGAGGTA		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.363G>T	7.37:g.31009576G>T	ENSP00000320180:p.Glu121Asp	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	101	61	0.60396	NM_000823	Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	CCDS5432.1	150	0.06868131868131869	90	0.18292682926829268	12	0.03314917127071823	2	0.0034965034965034965	46	0.06068601583113457	G	5.662	0.306778	0.10733	0.141171	0.053953	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409233;ENST00000337750	T;T;T	0.68624	0.68;0.87;-0.34	4.17	2.34	0.29019	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.00109	0.0003	N	0.25426	0.745	0.34334	P	0.311999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.002	T	0.05649	-1.0872	8	0.10636	T	0.68	.	6.876	0.24147	0.2158:0.0:0.7842:0.0	rs4988498;rs10278650;rs57488850;rs4988498	57;121;57	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	D	121;57;57;57	ENSP00000320180:E121D;ENSP00000387113:E57D;ENSP00000338184:E57D	ENSP00000320180:E121D	E	+	3	2	GHRHR	30976101	0.973000	0.33851	0.957000	0.39632	0.642000	0.38348	-0.130000	0.10498	0.521000	0.28445	0.462000	0.41574	GAG	G|0.919;T|0.081	0.081	strong		0.567	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31009576	G	T	31009576	3	4	22	1	0	0	0	0	1	0	0	0	6373	991	35	4	377	4	GHRHR	7	31009576	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	890	31009576	128129087	4137	9245										
GHRHR	2692	hgsc.bcm.edu	37	chr7	31011677	31011677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggatgctgcccttttccaCagcgacgacactgaccactg	9	14	0	1	rs740336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:31011677C>T	ENST00000326139.2	+	6	610	c.564C>T	c.(562-564)caC>caT	p.H188H	GHRHR_ENST00000409316.1_Missense_Mutation_p.T6I|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.H124H	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	188					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCCTTTTCCACAGCGACGACA	0.587													C|||	299	0.0597045	0.1301	0.0231	5008	,	,		18976	0.005		0.0239	False		,,,				2504	0.0838				p.H188H		Atlas-SNP	.											.	GHRHR	55	.	0			c.C564T						PASS	.	C		487,3919	229.8+/-244.2	26,435,1742	109	80	90		564	-6.8	0	7	dbSNP_86	90	191,8409	85.0+/-147.5	1,189,4110	no	coding-synonymous	GHRHR	NM_000823.3		27,624,5852	TT,TC,CC		2.2209,11.0531,5.213		188/424	31011677	678,12328	2203	4300	6503	SO:0001819	synonymous_variant	2692	exon6			TTTCCACAGCGAC		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.564C>T	7.37:g.31011677C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_000823	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1	96	0.04395604395604396	65	0.13211382113821138	11	0.03038674033149171	1	0.0017482517482517483	19	0.025065963060686015	C	9.268	1.044992	0.19748	0.110531	0.022209	ENSG00000106128	ENST00000409316	.	.	.	4.57	-6.82	0.01698	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.50632	P	1.2000000000000899E-4	B	0.28933	0.228	B	0.20955	0.032	T	0.18650	-1.0330	6	0.87932	D	0	.	1.8357	0.03139	0.2142:0.1391:0.3996:0.2471	rs740336;rs9718454;rs56649853;rs740336	6	Q9HB43	.	I	6	.	ENSP00000386602:T6I	T	+	2	0	GHRHR	30978202	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-3.064000	0.00622	-1.131000	0.02910	0.561000	0.74099	ACA	C|0.943;T|0.057	0.057	strong		0.587	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31011677	C	T	31011677	2	4	22	1	0	0	0	0	0	0	0	1	6373	477	17	2		2	GHRHR	7	31011677	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2101	31011677	128126986	4138	9246										
CCDC129	223075	hgsc.bcm.edu	37	chr7	31691582	31691582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagcaactgcaaacgttacGtgaggccctgaggcagcagg	14	11	0	2	rs80081783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:31691582G>A	ENST00000407970.3	+	13	2779	c.2741G>A	c.(2740-2742)cGt>cAt	p.R914H	CCDC129_ENST00000451887.2_Missense_Mutation_p.R940H|CCDC129_ENST00000409210.1_Missense_Mutation_p.R822H|CCDC129_ENST00000319386.3_Missense_Mutation_p.R766H	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	914										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAAACGTTACGTGAGGCCCTG	0.478													G|||	30	0.00599042	0.0227	0.0	5008	,	,		17400	0.0		0.0	False		,,,				2504	0.0				p.R940H		Atlas-SNP	.											LOC223075,right_lower_lobe,carcinoma,-1,2	CCDC129	127	2	0			c.G2819A						PASS	.	G	HIS/ARG	56,4350	55.5+/-91.7	0,56,2147	69	60	63		2741	5.2	0	7	dbSNP_133	63	0,8600		0,0,4300	yes	missense	CCDC129	NM_194300.2	29	0,56,6447	AA,AG,GG		0.0,1.271,0.4306	probably-damaging	914/1045	31691582	56,12950	2203	4300	6503	SO:0001583	missense	223075	exon13			CGTTACGTGAGGC	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2741G>A	7.37:g.31691582G>A	ENSP00000384416:p.Arg914His	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	153	77	0.503268	NM_001257968	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	26.1	4.700031	0.88924	0.01271	0.0	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.21	5.21	0.72293	.	0.000000	0.50627	D	0.000101	T	0.55862	0.1947	M	0.71581	2.175	0.09310	N	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.966;0.993;0.993;0.984	T	0.59910	-0.7365	10	0.87932	D	0	-17.7013	14.263	0.66097	0.0:0.0:1.0:0.0	.	940;924;914;766	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	H	766;914;940;924;822	ENSP00000313062:R766H;ENSP00000384416:R914H;ENSP00000395835:R940H;ENSP00000387214:R822H	ENSP00000313062:R766H	R	+	2	0	CCDC129	31658107	0.944000	0.32072	0.031000	0.17742	0.664000	0.39144	2.657000	0.46724	2.437000	0.82529	0.561000	0.74099	CGT	G|0.995;A|0.005	0.005	strong		0.478	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31691582	G	A	31691582	3	1	22	1	0	0	0	0	1	0	0	0	2764	1145	40	1	2787	1	CCDC129	7	31691582	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	679905	31691582	127447081	4139	9247										
C7orf16	10842	hgsc.bcm.edu	37	chr7	31732089	31732089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaatgcagccactggaaCtctcagaagacagactggac	10	11	1	3	rs3735422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:31732089C>G	ENST00000342032.3	+	2	662	c.34C>G	c.(34-36)Ctc>Gtc	p.L12V	PPP1R17_ENST00000409146.3_Missense_Mutation_p.L12V	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	12			L -> V (in dbSNP:rs3735422). {ECO:0000269|PubMed:10051666, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9920894}.		central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.L12V(1)									GCCACTGGAACTCTCAGAAGA	0.448													C|||	797	0.159145	0.2057	0.1095	5008	,	,		19782	0.2341		0.1153	False		,,,				2504	0.0992				p.L12V		Atlas-SNP	.											C7orf16,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.C34G						PASS	.	C	VAL/LEU,VAL/LEU	757,3649	308.0+/-290.3	61,635,1507	117	102	107		34,34	4.3	1	7	dbSNP_107	107	962,7638	210.3+/-251.2	55,852,3393	yes	missense,missense	C7orf16	NM_001145123.2,NM_006658.4	32,32	116,1487,4900	GG,GC,CC		11.186,17.1811,13.217	benign,benign	12/105,12/156	31732089	1719,11287	2203	4300	6503	SO:0001583	missense	10842	exon2			CTGGAACTCTCAG	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.34C>G	7.37:g.31732089C>G	ENSP00000340125:p.Leu12Val	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	117	44	0.376068	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	337	0.1543040293040293	88	0.17886178861788618	37	0.10220994475138122	131	0.229020979020979	81	0.10686015831134564	C	12.87	2.068223	0.36470	0.171811	0.11186	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.36157	1.27;1.28	6.16	4.32	0.51571	.	0.255877	0.33235	N	0.005132	T	0.00012	0.0000	L	0.47716	1.5	0.35108	P	0.23413399999999995	P;B	0.37207	0.587;0.3	B;B	0.35182	0.197;0.164	T	0.23368	-1.0190	9	0.46703	T	0.11	-1.8379	5.263	0.15584	0.2395:0.5777:0.1105:0.0722	rs3735422;rs17852495;rs3735422	12;12	B4DE58;O96001	.;PPR17_HUMAN	V	12	ENSP00000340125:L12V;ENSP00000386459:L12V	ENSP00000340125:L12V	L	+	1	0	C7orf16	31698614	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	2.986000	0.49370	0.886000	0.36113	0.650000	0.86243	CTC	C|0.856;G|0.144	0.144	strong		0.448	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		G	31732089	C	G	31732089	3	3	22	1	0	0	0	0	1	0	0	0	2378	565	20	4	36	4	C7orf16	7	31732089	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40507	31732089	127406574	4140	9248										
AVL9	23080	hgsc.bcm.edu	37	chr7	32612837	32612837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctctgatccagatccaTgatccagaactcaggaagct	9	11	2	4	rs138053039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:32612837T>C	ENST00000318709.4	+	12	1598	c.1377T>C	c.(1375-1377)caT>caC	p.H459H	AVL9_ENST00000409301.1_Silent_p.H459H|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	459					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCAGATCCATGATCCAGAAC	0.502													T|||	76	0.0151757	0.0537	0.0072	5008	,	,		16693	0.0		0.0	False		,,,				2504	0.0				p.H459H		Atlas-SNP	.											.	AVL9	66	.	0			c.T1377C						PASS	.	T		167,4239	109.5+/-147.8	1,165,2037	86	67	74		1377	-3.5	1	7	dbSNP_134	74	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	AVL9	NM_015060.1		1,168,6334	CC,CT,TT		0.0349,3.7903,1.3071		459/649	32612837	170,12836	2203	4300	6503	SO:0001819	synonymous_variant	23080	exon12			GATCCATGATCCA	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1377T>C	7.37:g.32612837T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	115	53	0.46087	NM_015060	Q92573	Silent	SNP	ENST00000318709.4	37	CCDS34613.1																																																																																			T|0.988;C|0.012	0.012	strong		0.502	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		C	32612837	T	C	32612837	2	2	22	1	0	0	0	0	0	0	0	1	1228	1461	51	2		2	AVL9	7	32612837	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	880748	32612837	126525826	4141	9249										
AVL9	23080	hgsc.bcm.edu	37	chr7	32613020	32613020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccctgctggctgccacActgcaattaggtaagaaacc	9	13	0	1	rs1993050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:32613020A>G	ENST00000318709.4	+	12	1781	c.1560A>G	c.(1558-1560)acA>acG	p.T520T	AVL9_ENST00000409301.1_Silent_p.T520T|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	520					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.T520T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGGCTGCCACACTGCAATTAG	0.458													A|||	2848	0.56869	0.3933	0.7147	5008	,	,		17731	0.6677		0.6551	False		,,,				2504	0.5112				p.T520T		Atlas-SNP	.											AVL9,NS,carcinoma,0,1	AVL9	66	1	1	Substitution - coding silent(1)	stomach(1)	c.A1560G						PASS	.	A		1900,2506	546.3+/-377.0	416,1068,719	89	77	81		1560	-11	0.2	7	dbSNP_92	81	5691,2909	671.1+/-402.8	1902,1887,511	no	coding-synonymous	AVL9	NM_015060.1		2318,2955,1230	GG,GA,AA		33.8256,43.123,41.6346		520/649	32613020	7591,5415	2203	4300	6503	SO:0001819	synonymous_variant	23080	exon12			TGCCACACTGCAA	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1560A>G	7.37:g.32613020A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	122	58	0.47541	NM_015060	Q92573	Silent	SNP	ENST00000318709.4	37	CCDS34613.1																																																																																			A|0.420;G|0.580	0.580	strong		0.458	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		G	32613020	A	G	32613020	2	3	22	1	0	0	0	0	0	0	0	1	1228	146	6	2		2	AVL9	7	32613020	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	183	32613020	126525643	4142	9250										
BBS9	27241	hgsc.bcm.edu	37	chr7	33545253	33545253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacaagaagacactcaagAattggtaaggacctgaaagc	10	8	1	4	rs140882212		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:33545253A>G	ENST00000242067.6	+	20	2815	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	BBS9_ENST00000354265.4_Missense_Mutation_p.E730G|BBS9_ENST00000396127.2_Missense_Mutation_p.E730G|BBS9_ENST00000355070.2_Missense_Mutation_p.E760G|BBS9_ENST00000350941.3_Missense_Mutation_p.E725G	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	765	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GACACTCAAGAATTGGTAAGG	0.468									Bardet-Biedl syndrome				A|||	1	0.000199681	0.0008	0.0	5008	,	,		17434	0.0		0.0	False		,,,				2504	0.0				p.E765G		Atlas-SNP	.											.	BBS9	194	.	0			c.A2294G						PASS	.	A	GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU	4,4402	6.2+/-15.9	0,4,2199	38	38	38		2189,2279,2174,2294	5.6	1	7	dbSNP_134	38	0,8600		0,0,4300	yes	missense,missense,missense,missense	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	98,98,98,98	0,4,6499	GG,GA,AA		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	730/853,760/883,725/848,765/888	33545253	4,13002	2203	4300	6503	SO:0001583	missense	27241	exon20	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	CTCAAGAATTGGT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2294A>G	7.37:g.33545253A>G	ENSP00000242067:p.Glu765Gly	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	59	34	0.576271	NM_198428	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	16.89	3.246980	0.59103	9.08E-4	0.0	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.61	5.61	0.85477	.	0.060219	0.64402	D	0.000004	T	0.24198	0.0586	L	0.46741	1.465	0.80722	D	1	P;P;D;P;P	0.54601	0.877;0.929;0.967;0.929;0.923	P;P;P;P;P	0.49252	0.501;0.501;0.604;0.501;0.501	T	0.00684	-1.1611	10	0.45353	T	0.12	-25.845	15.0016	0.71476	1.0:0.0:0.0:0.0	.	765;725;760;730;765	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	G	765;725;730;760;730;765	ENSP00000242067:E765G;ENSP00000313122:E725G;ENSP00000379433:E730G;ENSP00000347182:E760G;ENSP00000346214:E730G	ENSP00000242067:E765G	E	+	2	0	BBS9	33511778	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	7.327000	0.79147	2.146000	0.66826	0.459000	0.35465	GAA	A|1.000;G|0.000	0.000	strong		0.468	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			G	33545253	A	G	33545253	3	3	22	1	0	0	0	0	1	0	0	0	1342	246	9	2	2368	2	BBS9	7	33545253	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	932233	33545253	125593410	4143	9251										
BMPER	168667	hgsc.bcm.edu	37	chr7	33946464	33946464	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgaaaatgaaggtgaagtCctccagattccatttatcac	8	8	1	4	rs112068976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:33946464C>T	ENST00000297161.2	+	3	542	c.168C>T	c.(166-168)gtC>gtT	p.V56V	BMPER_ENST00000426693.1_Silent_p.V56V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	56	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGGTGAAGTCCTCCAGATTC	0.378													C|||	4	0.000798722	0.003	0.0	5008	,	,		18193	0.0		0.0	False		,,,				2504	0.0				p.V56V		Atlas-SNP	.											BMPER,NS,carcinoma,+1,1	BMPER	131	1	0			c.C168T						PASS	.	C		15,4391	22.3+/-47.3	0,15,2188	142	130	134		168	-6.9	0.3	7	dbSNP_132	134	0,8600		0,0,4300	no	coding-synonymous	BMPER	NM_133468.3		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		56/686	33946464	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	168667	exon3			TGAAGTCCTCCAG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.168C>T	7.37:g.33946464C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	51	0.536842	NM_133468	A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	CCDS5442.1																																																																																			C|0.999;T|0.001	0.001	strong		0.378	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		T	33946464	C	T	33946464	2	4	22	1	0	0	0	0	0	0	0	1	1468	842	30	2		2	BMPER	7	33946464	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	401211	33946464	125192199	4144	9252										
NPSR1	387129	hgsc.bcm.edu	37	chr7	34917759	34917759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgagagaactggaagggtaCttggccaggtgtaccttcct	13	9	0	1	rs13230135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:34917759C>T	ENST00000359791.1	+	9	1225	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	NPSR1_ENST00000531252.1_Missense_Mutation_p.T355I	NM_207173.1	NP_997056.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGGAAGGGTACTTGGCCAGGT	0.572													C|||	45	0.00898562	0.031	0.0043	5008	,	,		17115	0.0		0.0	False		,,,				2504	0.001				p.T366I		Atlas-SNP	.											.	NPSR1	134	.	0			c.C1097T						PASS	.	C	ILE/THR	157,4249	99.8+/-138.5	2,153,2048	76	60	65		1097	-1.2	0	7	dbSNP_121	65	3,8597	3.0+/-9.4	0,3,4297	no	missense	NPSR1	NM_207173.1	89	2,156,6345	TT,TC,CC		0.0349,3.5633,1.2302		366/378	34917759	160,12846	2203	4300	6503	SO:0001583	missense	387129	exon9			AGGGTACTTGGCC	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000359791.1:c.1097C>T	7.37:g.34917759C>T	ENSP00000352839:p.Thr366Ile	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	288	146	0.506944	NM_207173	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000359791.1	37	CCDS5443.1	17	0.007783882783882784	14	0.028455284552845527	3	0.008287292817679558	0	0.0	0	0.0	C	8.876	0.950372	0.18431	0.035633	3.49E-4	ENSG00000187258	ENST00000359791;ENST00000531252	T;T	0.72167	-0.63;-0.25	2.64	-1.25	0.09405	.	.	.	.	.	T	0.13798	0.0334	N	0.08118	0	0.09310	N	1	B;B;B	0.26975	0.165;0.003;0.003	B;B;B	0.18561	0.022;0.006;0.006	T	0.07578	-1.0765	9	0.46703	T	0.11	.	3.1688	0.06545	0.0:0.3835:0.2193:0.3971	rs13230135	300;355;366	B7ZMA2;Q6W5P4-5;Q6W5P4-4	.;.;.	I	366;355	ENSP00000352839:T366I;ENSP00000433258:T355I	ENSP00000352839:T366I	T	+	2	0	NPSR1	34884284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-0.336000	0.08438	-0.324000	0.08512	ACT	C|0.987;T|0.013	0.013	strong		0.572	NPSR1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216838.1	NM_207173		T	34917759	C	T	34917759	3	4	22	1	0	0	0	0	1	0	0	0	10600	565	20	2	1226	2	NPSR1	7	34917759	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	971295	34917759	124220904	4145	9253										
DPY19L1	23333	hgsc.bcm.edu	37	chr7	34978926	34978926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatgtggatgattcacaatGggccgaagtgcagagagctt	13	6	1	2	rs377307859		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:34978926G>A	ENST00000310974.4	-	20	1851	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	569						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GATTCACAATGGGCCGAAGTG	0.507																																					p.P569P		Atlas-SNP	.											.	DPY19L1	56	.	0			c.C1707T						PASS	.	G		1,4179		0,1,2089	120	112	115		1707	-0.4	0	7		115	0,8478		0,0,4239	no	coding-synonymous	DPY19L1	NM_015283.1		0,1,6328	AA,AG,GG		0.0,0.0239,0.0079		569/676	34978926	1,12657	2090	4239	6329	SO:0001819	synonymous_variant	23333	exon20			CACAATGGGCCGA	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1707C>T	7.37:g.34978926G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	138	71	0.514493	NM_015283	O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151487	0.21371	2.39E-4	0.0	ENSG00000173852	ENST00000428054	.	.	.	5.9	-0.415	0.12355	.	.	.	.	.	T	0.41282	0.1152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21109	-1.0255	4	.	.	.	-12.4763	1.5429	0.02559	0.2774:0.217:0.3812:0.1244	.	.	.	.	Y	19	.	.	H	-	1	0	DPY19L1	34945451	0.075000	0.21258	0.018000	0.16275	0.856000	0.48823	0.068000	0.14531	-0.382000	0.07870	-0.150000	0.13652	CAT	.	.	weak		0.507	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			A	34978926	G	A	34978926	2	1	22	1	0	0	0	0	0	0	0	1	4740	1335	47	2		2	DPY19L1	7	34978926	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61167	34978926	124159737	4146	9254										
AOAH	313	hgsc.bcm.edu	37	chr7	36656001	36656001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccaaagacatctgcgaCgctgtgatccattcaggaga	9	11	2	3	rs3735387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:36656001C>T	ENST00000258749.5	-	11	1230	c.831G>A	c.(829-831)gcG>gcA	p.A277A	AOAH_ENST00000535891.1_Silent_p.A245A|AOAH_ENST00000431169.1_Silent_p.A277A	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	277					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCTGCGACGCTGTGATCC	0.458													C|||	225	0.0449281	0.0068	0.0994	5008	,	,		19476	0.0992		0.003	False		,,,				2504	0.045				p.A277A		Atlas-SNP	.											.	AOAH	79	.	0			c.G831A						PASS	.	C	,,	69,4337	62.9+/-100.1	0,69,2134	83	71	75		831,735,831	-3.8	0.9	7	dbSNP_107	75	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	,,	0,72,6431	TT,TC,CC		0.0349,1.566,0.5536	,,	277/689,245/544,277/576	36656001	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	313	exon11			CTGCGACGCTGTG	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.831G>A	7.37:g.36656001C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	71	41	0.577465	NM_001637	A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	CCDS5448.1																																																																																			C|0.978;T|0.022	0.022	strong		0.458	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		T	36656001	C	T	36656001	2	4	22	1	0	0	0	0	0	0	0	1	726	523	19	1		1	AOAH	7	36656001	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1677075	36656001	122482662	4147	9255										
AOAH	313	hgsc.bcm.edu	37	chr7	36657940	36657940	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatatggaactccatctttTggatcgacaccctttaaaaa	5	10	2	0	rs3735385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:36657940T>A	ENST00000258749.5	-	10	1113	c.714A>T	c.(712-714)ccA>ccT	p.P238P	AOAH_ENST00000535891.1_Silent_p.P206P|AOAH_ENST00000431169.1_Silent_p.P238P	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	238					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTCCATCTTTTGGATCGACAC	0.318													T|||	275	0.0549121	0.0076	0.1124	5008	,	,		19720	0.123		0.007	False		,,,				2504	0.0573				p.P238P		Atlas-SNP	.											.	AOAH	79	.	0			c.A714T						PASS	.	T	,,	74,4332	66.4+/-103.9	0,74,2129	108	104	105		714,618,714	-1.5	1	7	dbSNP_107	105	29,8571	19.8+/-62.0	0,29,4271	no	coding-synonymous,coding-synonymous,coding-synonymous	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	,,	0,103,6400	AA,AT,TT		0.3372,1.6795,0.7919	,,	238/689,206/544,238/576	36657940	103,12903	2203	4300	6503	SO:0001819	synonymous_variant	313	exon10			ATCTTTTGGATCG	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.714A>T	7.37:g.36657940T>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	88	33	0.375	NM_001637	A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	CCDS5448.1																																																																																			T|0.975;A|0.025	0.025	strong		0.318	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		A	36657940	T	A	36657940	2	1	22	1	0	0	0	0	0	0	0	1	726	1799	63	5		5	AOAH	7	36657940	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1939	36657940	122480723	4148	9256										
AOAH	313	hgsc.bcm.edu	37	chr7	36763688	36763688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcgttggctggagaggcCgaggactgaagagacaggag	17	7	1	3	rs2228411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:36763688C>T	ENST00000258749.5	-	1	465	c.66G>A	c.(64-66)tcG>tcA	p.S22S	AOAH_ENST00000535891.1_Silent_p.S22S|AOAH_ENST00000431169.1_Silent_p.S22S	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	22					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.S22S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTGGAGAGGCCGAGGACTGAA	0.512													C|||	1894	0.378195	0.553	0.2867	5008	,	,		16715	0.4177		0.325	False		,,,				2504	0.2209				p.S22S		Atlas-SNP	.											AOAH,NS,carcinoma,0,2	AOAH	79	2	1	Substitution - coding silent(1)	stomach(1)	c.G66A						PASS	.	C	,,	2299,2107	602.4+/-389.9	610,1079,514	57	63	61		66,66,66	-2.8	0	7	dbSNP_98	61	3052,5548	469.0+/-367.5	554,1944,1802	no	coding-synonymous,coding-synonymous,coding-synonymous	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	,,	1164,3023,2316	TT,TC,CC		35.4884,47.8212,41.1425	,,	22/689,22/544,22/576	36763688	5351,7655	2203	4300	6503	SO:0001819	synonymous_variant	313	exon1			AGAGGCCGAGGAC	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.66G>A	7.37:g.36763688C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_001177507	A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	CCDS5448.1																																																																																			C|0.590;T|0.410	0.410	strong		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		T	36763688	C	T	36763688	2	4	22	1	0	0	0	0	0	0	0	1	726	639	23	1		1	AOAH	7	36763688	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	105748	36763688	122374975	4149	9257										
SFRP4	6424	hgsc.bcm.edu	37	chr7	37947103	37947103	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactcttttcgggtttgttCtcttctgggcactcctagtt	8	11	3	0	rs1802074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:37947103C>T	ENST00000436072.2	-	6	1396	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	340			R -> K (in dbSNP:rs1802074). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGGGTTTGTTCTCTTCTGGGC	0.507													C|||	1267	0.252995	0.3979	0.1772	5008	,	,		19455	0.2619		0.2217	False		,,,				2504	0.1339				p.R340K		Atlas-SNP	.											.	SFRP4	66	.	0			c.G1019A						PASS	.	C	LYS/ARG	1503,2903	480.6+/-358.9	262,979,962	194	193	193		1019	0.9	0	7	dbSNP_89	193	1651,6949	304.1+/-306.8	145,1361,2794	yes	missense	SFRP4	NM_003014.3	26	407,2340,3756	TT,TC,CC		19.1977,34.1126,24.2503	benign	340/347	37947103	3154,9852	2203	4300	6503	SO:0001583	missense	6424	exon6			TTTGTTCTCTTCT	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.1019G>A	7.37:g.37947103C>T	ENSP00000410715:p.Arg340Lys	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	349	349	1	NM_003014	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	606	0.2774725274725275	194	0.3943089430894309	82	0.2265193370165746	153	0.2674825174825175	177	0.23350923482849603	C	0.488	-0.876652	0.02550	0.341126	0.191977	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.62105	0.05	5.68	0.881	0.19166	.	0.557844	0.18393	N	0.142610	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	9	0.12430	T	0.62	.	9.5666	0.39402	0.0:0.492:0.0:0.508	rs1802074;rs52828267;rs60194202;rs1802074	340	Q6FHJ7	SFRP4_HUMAN	K	340;337	ENSP00000410715:R340K	ENSP00000410715:R340K	R	-	2	0	SFRP4	37913628	0.603000	0.26924	0.016000	0.15963	0.085000	0.17905	0.505000	0.22642	-0.071000	0.12886	-1.193000	0.01689	AGA	C|0.744;T|0.256	0.256	strong		0.507	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		T	37947103	C	T	37947103	3	4	22	1	0	0	0	0	1	0	0	0	14163	913	32	2	25	2	SFRP4	7	37947103	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1183415	37947103	121191560	4150	9258										
TARP	6966	hgsc.bcm.edu	37	chr7	38305142	38305142	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgttgctcttcttttcttGccaatgtatcttaataacat	5	9	4	0	rs113809137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:38305142G>C	ENST00000443402.2	-	0	137					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TTCTTTTCTTGCCAATGTATC	0.398													g|||	1036	0.206869	0.1596	0.1686	5008	,	,		17640	0.1944		0.2515	False		,,,				2504	0.2648				p.G42G		Atlas-SNP	.											.	.	.	.	0			c.C126G						PASS	.	G	,	601,3039		80,441,1299	167	173	171		126,	3.3	0.9	7	dbSNP_132	171	1903,6245		234,1435,2405	no	coding-synonymous,utr-5	TARP	NM_001003799.1,NM_001003806.1	,	314,1876,3704	CC,CG,GG		23.3554,16.511,21.2419	,	42/59,	38305142	2504,9284	1820	4074	5894			0	exon2			TTTCTTGCCAATG	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305142G>C		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	182	83	0.456044	NM_001003799		Silent	SNP	ENST00000443402.2	37																																																																																				G|0.805;C|0.195	0.195	strong		0.398	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		C	38305142	G	C	38305142	1	2	22	0	1	0	0	0	0	0	0	0	15555	1306	46	4		4	TARP	7	38305142	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	358039	38305142	120833521	4151	9259										
AMPH	273	hgsc.bcm.edu	37	chr7	38431436	38431436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatggctggtgcagaaggCgtgggctgagggtcctggat	18	9	0	2	rs1058656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:38431436C>T	ENST00000356264.2	-	19	2006	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.T555T|AMPH_ENST00000428293.2_Silent_p.T555T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	597					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCAGAAGGCGTGGGCTGAG	0.612													C|||	896	0.178914	0.2322	0.2248	5008	,	,		13855	0.127		0.1759	False		,,,				2504	0.1309				p.T597T		Atlas-SNP	.											.	AMPH	157	.	0			c.G1791A						PASS	.	C	,	948,3458	360.1+/-315.1	99,750,1354	52	49	50		1791,1665	-1.8	0	7	dbSNP_86	50	1860,6740	330.3+/-319.2	197,1466,2637	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	296,2216,3991	TT,TC,CC		21.6279,21.5161,21.59	,	597/696,555/654	38431436	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	273	exon19			AGAAGGCGTGGGC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1791G>A	7.37:g.38431436C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	132	64	0.484848	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	395	0.18086080586080586	105	0.21341463414634146	74	0.20441988950276244	73	0.12762237762237763	143	0.18865435356200527	C	5.413	0.261367	0.10239	0.215161	0.216279	ENSG00000078053	ENST00000441628	.	.	.	5.34	-1.8	0.07907	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.29761	-1.0001	3	.	.	.	0.6258	3.0635	0.06207	0.106:0.3229:0.3573:0.2139	rs1058656;rs3199302;rs11553335;rs56947214	.	.	.	T	480	.	.	A	-	1	0	AMPH	38397961	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.475000	0.06599	-0.035000	0.13691	0.591000	0.81541	GCC	C|0.804;T|0.196	0.196	strong		0.612	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38431436	C	T	38431436	2	4	22	1	0	0	0	0	0	0	0	1	588	755	27	1		1	AMPH	7	38431436	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	126294	38431436	120707227	4152	9260										
AMPH	273	hgsc.bcm.edu	37	chr7	38431511	38431511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtggggcccggaggagcCgcgtcctcggtggtctcctt	17	13	1	0	rs2229922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:38431511C>T	ENST00000356264.2	-	19	1931	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.A530A|AMPH_ENST00000325590.5_Silent_p.A530A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	572					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGGAGGAGCCGCGTCCTCGG	0.607													C|||	368	0.0734824	0.0401	0.0893	5008	,	,		15646	0.004		0.1064	False		,,,				2504	0.1452				p.A572A		Atlas-SNP	.											AMPH,NS,carcinoma,-1,1	AMPH	157	1	0			c.G1716A						PASS	.	C	,	166,4240	110.4+/-148.6	4,158,2041	59	56	57		1716,1590	-9.5	0	7	dbSNP_98	57	974,7626	212.0+/-252.4	45,884,3371	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	49,1042,5412	TT,TC,CC		11.3256,3.7676,8.7652	,	572/696,530/654	38431511	1140,11866	2203	4300	6503	SO:0001819	synonymous_variant	273	exon19			AGGAGCCGCGTCC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1716G>A	7.37:g.38431511C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	113	68	0.60177	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	137	0.06272893772893773	26	0.052845528455284556	30	0.08287292817679558	0	0.0	81	0.10686015831134564	C	7.174	0.588285	0.13812	0.037676	0.113256	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.5	0.00584	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.17018	-1.0383	3	.	.	.	-0.0635	0.0536	0.00013	0.3054:0.1844:0.2262:0.2839	rs2229922;rs2229922	.	.	.	S	455	.	.	G	-	1	0	AMPH	38398036	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.378000	0.01068	-1.937000	0.01047	-0.229000	0.12294	GGC	C|0.919;T|0.081	0.081	strong		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38431511	C	T	38431511	2	4	22	1	0	0	0	0	0	0	0	1	588	639	23	1		1	AMPH	7	38431511	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75	38431511	120707152	4153	9261										
VPS41	27072	hgsc.bcm.edu	37	chr7	38860809	38860809	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgaatacttactttaatGggacagtcaaaagtctcgtg	9	7	2	1	rs77229707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:38860809G>T	ENST00000310301.4	-	6	432	c.378C>A	c.(376-378)ccC>ccA	p.P126P	VPS41_ENST00000395969.2_Silent_p.P101P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	126					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTACTTTAATGGGACAGTCAA	0.348													G|||	78	0.0155751	0.0333	0.013	5008	,	,		17185	0.0		0.0119	False		,,,				2504	0.0133				p.P126P		Atlas-SNP	.											.	VPS41	102	.	0			c.C378A						PASS	.	G	,	197,4209	123.7+/-161.0	4,189,2010	87	91	90		378,303	-0.3	1	7	dbSNP_132	90	125,8475	64.9+/-127.2	1,123,4176	no	coding-synonymous,coding-synonymous	VPS41	NM_014396.3,NM_080631.3	,	5,312,6186	TT,TG,GG		1.4535,4.4712,2.4758	,	126/855,101/830	38860809	322,12684	2203	4300	6503	SO:0001819	synonymous_variant	27072	exon6			TTTAATGGGACAG	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.378C>A	7.37:g.38860809G>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	43	0.573333	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	CCDS5457.1																																																																																			G|0.978;T|0.022	0.022	strong		0.348	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38860809	G	T	38860809	2	4	22	1	0	0	0	0	0	0	0	1	17207	1335	47	4		4	VPS41	7	38860809	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	429298	38860809	120277854	4154	9262										
POU6F2	11281	hgsc.bcm.edu	37	chr7	39379325	39379325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcagcagcagcctccccCgtcaaccaaccagcacccgc	8	21	1	0	rs2074936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:39379325C>T	ENST00000403058.1	+	6	750	c.596C>T	c.(595-597)cCg>cTg	p.P199L	POU6F2_ENST00000518318.2_Missense_Mutation_p.P199L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P191L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	199	Gln-rich.|Pro-rich.		P -> L (in dbSNP:rs2074936).		central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P199L(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cagcCTCCCCCGTCAACCAAC	0.672													C|||	1354	0.270367	0.1921	0.1844	5008	,	,		12095	0.5833		0.159	False		,,,				2504	0.229				p.P199L		Atlas-SNP	.											POU6F2,NS,NS,0,1	POU6F2	117	1	1	Substitution - Missense(1)	NS(1)	c.C596T						PASS	.	C	LEU/PRO,LEU/PRO	799,3603		62,675,1464	16	20	19		596,596	2.7	0.2	7	dbSNP_96	19	1184,7406		98,988,3209	yes	missense,missense	POU6F2	NM_007252.3,NM_001166018.1	98,98	160,1663,4673	TT,TC,CC		13.7835,18.1508,15.2632	benign,benign	199/692,199/656	39379325	1983,11009	2201	4295	6496	SO:0001583	missense	11281	exon6			CTCCCCCGTCAAC	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.596C>T	7.37:g.39379325C>T	ENSP00000384004:p.Pro199Leu	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	18	8	0.444444	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	634	0.2902930402930403	98	0.1991869918699187	75	0.20718232044198895	342	0.5979020979020979	119	0.15699208443271767	C	1.926	-0.447208	0.04572	0.181508	0.137835	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85411	1.06;-1.98	4.66	2.69	0.31865	.	2.961890	0.02261	U	0.067581	T	0.00012	0.0000	N	0.08118	0	0.40517	P	0.01920900000000003	P;B	0.43885	0.82;0.118	B;B	0.32928	0.155;0.016	T	0.38950	-0.9637	9	0.39692	T	0.17	.	12.6303	0.56653	0.4736:0.5264:0.0:0.0	rs2074936;rs10338353;rs52791432;rs2074936	199;199	P78424-2;P78424	.;PO6F2_HUMAN	L	199	ENSP00000384004:P199L;ENSP00000430514:P199L	ENSP00000384004:P199L	P	+	2	0	POU6F2	39345850	0.204000	0.23447	0.199000	0.23439	0.287000	0.27160	1.173000	0.31920	0.899000	0.36444	0.557000	0.71058	CCG	C|0.764;T|0.236	0.236	strong		0.672	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39379325	C	T	39379325	3	4	22	1	0	0	0	0	1	0	0	0	12285	652	23	1	614	1	POU6F2	7	39379325	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	518516	39379325	119759338	4155	9263										
GLI3	2737	hgsc.bcm.edu	37	chr7	42004897	42004897	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggccactggctgcctgttGagacagttcccatactgcgg	14	12	0	1	rs35448119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:42004897G>C	ENST00000395925.3	-	15	3858	c.3774C>G	c.(3772-3774)ctC>ctG	p.L1258L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1258					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGCCTGTTGAGACAGTTCC	0.627									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	69	0.013778	0.0484	0.0072	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0				p.L1258L		Atlas-SNP	.											.	GLI3	312	.	0			c.C3774G						PASS	.	G		195,4211	123.3+/-160.7	7,181,2015	62	65	64	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3774	-9.7	0	7	dbSNP_126	64	0,8600		0,0,4300	no	coding-synonymous	GLI3	NM_000168.5		7,181,6315	CC,CG,GG		0.0,4.4258,1.4993		1258/1581	42004897	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;	CCTGTTGAGACAG		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3774C>G	7.37:g.42004897G>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	88	41	0.465909	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																			G|0.984;C|0.016	0.016	strong		0.627	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		C	42004897	G	C	42004897	2	2	22	1	0	0	0	0	0	0	0	1	6439	1277	45	4		4	GLI3	7	42004897	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2625572	42004897	117133766	4156	9264										
MRPL32	64983	hgsc.bcm.edu	37	chr7	42971998	42971998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggaaaatggcgctggccAtgctggtcttggtggtttcg	16	8	1	0	rs111980169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:42971998A>G	ENST00000223324.2	+	1	200	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank|PSMA2_ENST00000442788.1_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	5					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GGCGCTGGCCATGCTGGTCTT	0.637													A|||	23	0.00459265	0.0174	0.0	5008	,	,		15207	0.0		0.0	False		,,,				2504	0.0				p.M5V		Atlas-SNP	.											.	MRPL32	25	.	0			c.A13G						PASS	.	A	VAL/MET	44,4362	46.7+/-81.2	0,44,2159	57	60	59		13	-11.6	0	7	dbSNP_132	59	0,8600		0,0,4300	yes	missense	MRPL32	NM_031903.2	21	0,44,6459	GG,GA,AA		0.0,0.9986,0.3383	benign	5/189	42971998	44,12962	2203	4300	6503	SO:0001583	missense	64983	exon1			CTGGCCATGCTGG	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.13A>G	7.37:g.42971998A>G	ENSP00000223324:p.Met5Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	51	0.53125	NM_031903	Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	CCDS5468.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	A	11.56	1.675863	0.29783	0.009986	0.0	ENSG00000106591	ENST00000223324	.	.	.	5.97	-11.6	0.00059	.	1.135090	0.06109	N	0.666822	T	0.09730	0.0239	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.02654	T	1	-2.6256	2.0049	0.03475	0.1081:0.2514:0.2373:0.4032	.	5	Q9BYC8	RM32_HUMAN	V	5	.	ENSP00000223324:M5V	M	+	1	0	MRPL32	42938523	0.000000	0.05858	0.005000	0.12908	0.224000	0.24922	-1.230000	0.02942	-1.610000	0.01583	0.477000	0.44152	ATG	A|0.995;G|0.005	0.005	strong		0.637	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		G	42971998	A	G	42971998	3	3	22	1	0	0	0	0	1	0	0	0	9795	217	8	2	15	2	MRPL32	7	42971998	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	967101	42971998	116166665	4157	9265										
MRPS24	64951	hgsc.bcm.edu	37	chr7	43906544	43906544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaaggaaaacatcctccacCgttcgctctgcggcatggtc	10	14	1	0	rs9154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:43906544C>T	ENST00000317534.5	-	4	319	c.258G>A	c.(256-258)acG>acA	p.T86T	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	86					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T86T(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CATCCTCCACCGTTCGCTCTG	0.557													C|||	248	0.0495208	0.1831	0.0058	5008	,	,		17550	0.0		0.002	False		,,,				2504	0.0				p.T86T		Atlas-SNP	.											MRPS24,colon,carcinoma,-1,2	MRPS24	9	2	1	Substitution - coding silent(1)	lung(1)	c.G258A						PASS	.	C	,	694,3712	291.0+/-281.2	51,592,1560	68	64	65		,258	-10.5	0.1	7	dbSNP_52	65	5,8595	4.3+/-15.6	0,5,4295	no	utr-3,coding-synonymous	MRPS24,URGCP-MRPS24	NM_001204871.1,NM_032014.2	,	51,597,5855	TT,TC,CC		0.0581,15.7512,5.3744	,	,86/168	43906544	699,12307	2203	4300	6503	SO:0001819	synonymous_variant	64951	exon4			CTCCACCGTTCGC	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.258G>A	7.37:g.43906544C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	68	28	0.411765	NM_032014	A4D1U9|P82668|Q96Q23|Q9P047	Silent	SNP	ENST00000317534.5	37	CCDS5473.1																																																																																			C|0.953;T|0.047	0.047	strong		0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		T	43906544	C	T	43906544	2	4	22	1	0	0	0	0	0	0	0	1	9835	639	23	1		1	MRPS24	7	43906544	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	934546	43906544	115232119	4158	9266										
MRPS24	64951	hgsc.bcm.edu	37	chr7	43908661	43908661	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccttgcttacgcgtactcGggccgcccggttctaggagc	12	16	1	0	rs17854882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:43908661G>T	ENST00000317534.5	-	3	182	c.121C>A	c.(121-123)Cga>Aga	p.R41R	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Missense_Mutation_p.P86Q	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	41					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACGCGTACTCGGGCCGCCCGG	0.647													G|||	150	0.0299521	0.112	0.0014	5008	,	,		10791	0.0		0.001	False		,,,				2504	0.0				p.P86Q		Atlas-SNP	.											.	.	.	.	0			c.C257A						PASS	.	G	GLN/PRO,	422,3984	205.8+/-227.6	21,380,1802	58	53	55		257,121	2.7	0.9	7	dbSNP_123	55	3,8597	3.0+/-9.4	0,3,4297	yes	missense,coding-synonymous	MRPS24,URGCP-MRPS24	NM_001204871.1,NM_032014.2	76,	21,383,6099	TT,TG,GG		0.0349,9.5778,3.2677	,	86/111,41/168	43908661	425,12581	2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			GTACTCGGGCCGC	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.121C>A	7.37:g.43908661G>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	151	73	0.483444	NM_001204871	A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	CCDS5473.1																																																																																			G|0.971;T|0.029	0.029	strong		0.647	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		T	43908661	G	T	43908661	2	4	22	1	0	0	0	0	0	0	0	1	9835	1124	39	4		4	MRPS24	7	43908661	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2117	43908661	115230002	4159	9267										
DBNL	28988	hgsc.bcm.edu	37	chr7	44096482	44096482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtggccgcttccaggacGtgggaccccaggccccagtg	15	14	0	1	rs61735009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44096482G>A	ENST00000448521.1	+	5	552	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	DBNL_ENST00000490734.2_Missense_Mutation_p.V57M|DBNL_ENST00000494774.1_Missense_Mutation_p.V152M|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.V152M|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000440166.1_Missense_Mutation_p.V49M|DBNL_ENST00000452943.1_Missense_Mutation_p.V127M	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	152					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.V152L(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CTTCCAGGACGTGGGACCCCA	0.617													G|||	73	0.0145767	0.0552	0.0	5008	,	,		19626	0.0		0.0	False		,,,				2504	0.0				p.V152M	NSCLC(68;573 1327 18604 34760 37992)	Atlas-SNP	.											.	DBNL	26	.	1	Substitution - Missense(1)	lung(1)	c.G454A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL	188,4218	120.8+/-158.4	4,180,2019	101	93	96		454,454,454	-6.3	0	7	dbSNP_129	96	0,8600		0,0,4300	yes	missense,missense,missense	DBNL	NM_001014436.2,NM_001122956.1,NM_014063.6	21,21,21	4,180,6319	AA,AG,GG		0.0,4.2669,1.4455	benign,benign,benign	152/431,152/440,152/432	44096482	188,12818	2203	4300	6503	SO:0001583	missense	28988	exon5			CAGGACGTGGGAC	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.454G>A	7.37:g.44096482G>A	ENSP00000411701:p.Val152Met	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	104	45	0.432692	NM_001122956	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	CCDS34623.1	23|23	0.010531135531135532|0.010531135531135532	23|23	0.046747967479674794|0.046747967479674794	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	6.385|6.385	0.439110|0.439110	0.12104|0.12104	0.042669|0.042669	0.0|0.0	ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000448521;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	.|T;T;T;T;T;T	.|0.30714	.|1.91;2.23;2.23;1.52;1.91;2.22	4.9|4.9	-6.34|-6.34	0.01982|0.01982	.|.	.|1.052620	.|0.07283	.|N	.|0.871083	T|T	0.02230|0.02230	0.0069|0.0069	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B	.|0.25772	.|0.021;0.021;0.02;0.134;0.082;0.119;0.005;0.012	.|B;B;B;B;B;B;B;B	.|0.15052	.|0.005;0.003;0.005;0.012;0.003;0.008;0.001;0.004	T|T	0.25502|0.25502	-1.0130|-1.0130	5|10	.|0.41790	.|T	.|0.15	0.0525|0.0525	8.2112|8.2112	0.31483|0.31483	0.2474:0.0:0.6024:0.1502|0.2474:0.0:0.6024:0.1502	rs61735009|rs61735009	.|49;100;82;57;127;152;152;152	.|B4DEM2;B4DXL9;B4DDU5;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.|.;.;.;.;.;.;DBNL_HUMAN;.	H|M	80|152;49;127;152;152;57;82	.|ENSP00000411701:V152M;ENSP00000415173:V49M;ENSP00000405343:V127M;ENSP00000417653:V152M;ENSP00000419992:V152M;ENSP00000417749:V57M	.|ENSP00000415173:V49M	R|V	+|+	2|1	0|0	DBNL|DBNL	44063007|44063007	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.088000|0.088000	0.18126|0.18126	-0.206000|-0.206000	0.09398|0.09398	-0.667000|-0.667000	0.05303|0.05303	-0.696000|-0.696000	0.03686|0.03686	CGT|GTG	A|0.013;C|0.000;G|0.987	0.013	strong		0.617	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		A	44096482	G	A	44096482	3	1	22	1	0	0	0	0	1	0	0	0	4255	1145	40	1	472	1	DBNL	7	44096482	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	187821	44096482	115042181	4160	9268										
DBNL	28988	hgsc.bcm.edu	37	chr7	44099664	44099664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgcagcagcaaggtgcTggctctgagcacattgacca	13	11	1	2	rs11552797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44099664T>C	ENST00000448521.1	+	12	1163	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A	DBNL_ENST00000490734.2_Silent_p.A261A|DBNL_ENST00000494774.1_Silent_p.A356A|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Silent_p.A364A|DBNL_ENST00000456905.1_Silent_p.A307A|DBNL_ENST00000440166.1_Silent_p.A252A|DBNL_ENST00000452943.1_Silent_p.A331A	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	355					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.A356A(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGCAAGGTGCTGGCTCTGAGC	0.607													C|||	1337	0.266973	0.4387	0.2882	5008	,	,		20099	0.1141		0.2406	False		,,,				2504	0.2045				p.A364A	NSCLC(68;573 1327 18604 34760 37992)	Atlas-SNP	.											DBNL,NS,carcinoma,0,1	DBNL	26	1	1	Substitution - coding silent(1)	stomach(1)	c.T1092C						PASS	.	C	,,	1849,2557	629.4+/-395.3	390,1069,744	54	46	48		1065,1092,1068	-7.6	0	7	dbSNP_120	48	1992,6608	721.0+/-406.3	239,1514,2547	no	coding-synonymous,coding-synonymous,coding-synonymous	DBNL	NM_001014436.2,NM_001122956.1,NM_014063.6	,,	629,2583,3291	CC,CT,TT		23.1628,41.9655,29.5325	,,	355/431,364/440,356/432	44099664	3841,9165	2203	4300	6503	SO:0001819	synonymous_variant	28988	exon12			AGGTGCTGGCTCT	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1065T>C	7.37:g.44099664T>C		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	225	225	1	NM_001122956	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	CCDS34623.1	558|558	0.2554945054945055|0.2554945054945055	194|194	0.3943089430894309|0.3943089430894309	106|106	0.292817679558011|0.292817679558011	68|68	0.11888111888111888|0.11888111888111888	190|190	0.25065963060686014|0.25065963060686014	C|C	11.21|11.21	1.572572|1.572572	0.28092|0.28092	0.419655|0.419655	0.231628|0.231628	ENSG00000136279|ENSG00000136279	ENST00000452661|ENST00000432854	.|.	.|.	.|.	5.53|5.53	-7.58|-7.58	0.01313|0.01313	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03296|0.03296	-1.1051|-1.1051	3|3	.|.	.|.	.|.	-2.7619|-2.7619	18.0703|18.0703	0.89404|0.89404	0.0:0.6938:0.0:0.3062|0.0:0.6938:0.0:0.3062	rs11552797;rs11764534;rs17358190;rs59746704;rs11552797|rs11552797;rs11764534;rs17358190;rs59746704;rs11552797	.|.	.|.	.|.	P|R	63|284	.|.	.|.	L|W	+|+	2|1	0|0	DBNL|DBNL	44066189|44066189	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.541000|0.541000	0.35023|0.35023	-0.487000|-0.487000	0.06505|0.06505	-1.961000|-1.961000	0.01016|0.01016	-1.095000|-1.095000	0.02154|0.02154	CTG|TGG	T|0.715;C|0.285	0.285	strong		0.607	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		C	44099664	T	C	44099664	2	2	22	1	0	0	0	0	0	0	0	1	4255	1567	55	3		3	DBNL	7	44099664	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3182	44099664	115038999	4161	9269										
PGAM2	5224	hgsc.bcm.edu	37	chr7	44104805	44104805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatcttcacctgctcctcCccgtgcttggcggccgtttc	9	17	2	1	rs112828964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44104805C>T	ENST00000297283.3	-	1	381	c.324G>A	c.(322-324)ggG>ggA	p.G108G	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	108					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCTGCTCCTCCCCGTGCTTGG	0.632													C|||	159	0.0317492	0.1188	0.0029	5008	,	,		16305	0.0		0.0	False		,,,				2504	0.0				p.G108G		Atlas-SNP	.											.	PGAM2	20	.	0			c.G324A						PASS	.	C		422,3984	206.5+/-228.1	19,384,1800	62	61	62		324	-4.1	0.9	7	dbSNP_132	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGAM2	NM_000290.3		19,386,6098	TT,TC,CC		0.0233,9.5778,3.26		108/254	44104805	424,12582	2203	4300	6503	SO:0001819	synonymous_variant	5224	exon1			CTCCTCCCCGTGC		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.324G>A	7.37:g.44104805C>T		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	280	131	0.467857	NM_000290		Silent	SNP	ENST00000297283.3	37	CCDS34624.1																																																																																			C|0.968;T|0.032	0.032	strong		0.632	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			T	44104805	C	T	44104805	2	4	22	1	0	0	0	0	0	0	0	1	11774	610	22	2		2	PGAM2	7	44104805	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5141	44104805	115033858	4162	9270										
PGAM2	5224	hgsc.bcm.edu	37	chr7	44104913	44104913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacatctggtccgtgccGtccaggatggcccagagggt	14	13	1	1	rs111656877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44104913G>A	ENST00000297283.3	-	1	273	c.216C>T	c.(214-216)gaC>gaT	p.D72D	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	72					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGTCCGTGCCGTCCAGGATGG	0.627													G|||	52	0.0103834	0.0371	0.0029	5008	,	,		17290	0.0		0.0	False		,,,				2504	0.001				p.D72D		Atlas-SNP	.											.	PGAM2	20	.	0			c.C216T						PASS	.	G		218,4188	131.4+/-167.9	7,204,1992	93	78	83		216	-11.9	0	7	dbSNP_132	83	0,8600		0,0,4300	no	coding-synonymous	PGAM2	NM_000290.3		7,204,6292	AA,AG,GG		0.0,4.9478,1.6761		72/254	44104913	218,12788	2203	4300	6503	SO:0001819	synonymous_variant	5224	exon1			CGTGCCGTCCAGG		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.216C>T	7.37:g.44104913G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	121	57	0.471074	NM_000290		Silent	SNP	ENST00000297283.3	37	CCDS34624.1																																																																																			G|0.984;A|0.016	0.016	strong		0.627	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			A	44104913	G	A	44104913	2	1	22	1	0	0	0	0	0	0	0	1	11774	1136	40	1		1	PGAM2	7	44104913	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108	44104913	115033750	4163	9271										
POLM	27434	hgsc.bcm.edu	37	chr7	44116207	44116207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagcagtcttcacaccgaCcccgaagatctgggtgaaga	11	12	4	3	rs28382653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44116207C>A	ENST00000242248.5	-	6	837	c.736G>T	c.(736-738)Gtc>Ttc	p.V246F	POLM_ENST00000335195.6_Missense_Mutation_p.V246F|POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	246			V -> F (in dbSNP:rs28382653). {ECO:0000269|Ref.3}.		DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TTCACACCGACCCCGAAGATC	0.607								DNA polymerases (catalytic subunits)					C|||	52	0.0103834	0.0378	0.0029	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0				p.V246F		Atlas-SNP	.											.	POLM	50	.	0			c.G736T						PASS	.	C	PHE/VAL	220,4186	132.5+/-169.0	7,206,1990	97	92	94		736	5.7	1	7	dbSNP_125	94	0,8600		0,0,4300	yes	missense	POLM	NM_013284.2	50	7,206,6290	AA,AC,CC		0.0,4.9932,1.6915	probably-damaging	246/495	44116207	220,12786	2203	4300	6503	SO:0001583	missense	27434	exon6			CACCGACCCCGAA	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.736G>T	7.37:g.44116207C>A	ENSP00000242248:p.Val246Phe	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_013284	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	C	18.48	3.633258	0.67015	0.049932	0.0	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.59502	0.26;0.26	5.68	5.68	0.88126	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	.	.	.	.	T	0.40272	0.1110	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.68066	-0.5507	9	0.87932	D	0	.	15.2786	0.73764	0.0:1.0:0.0:0.0	rs28382653	246;246	Q6P5X8;Q9NP87	.;DPOLM_HUMAN	F	246	ENSP00000335141:V246F;ENSP00000242248:V246F	ENSP00000242248:V246F	V	-	1	0	POLM	44082732	0.998000	0.40836	0.995000	0.50966	0.809000	0.45718	4.994000	0.63901	2.672000	0.90937	0.650000	0.86243	GTC	C|0.983;A|0.017	0.017	strong		0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44116207	C	A	44116207	3	1	22	1	0	0	0	0	1	0	0	0	12206	507	18	4	772	4	POLM	7	44116207	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11294	44116207	115022456	4164	9272										
AEBP1	165	hgsc.bcm.edu	37	chr7	44146151	44146151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatcttggacagtgcctcCggaaaagaccaaagacaaag	10	10	1	2	rs75107445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44146151C>T	ENST00000223357.3	+	2	565	c.260C>T	c.(259-261)cCg>cTg	p.P87L		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	87	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAGTGCCTCCGGAAAAGACC	0.587													C|||	9	0.00179712	0.0061	0.0	5008	,	,		15644	0.0		0.0	False		,,,				2504	0.001				p.P87L		Atlas-SNP	.											AEBP1,larynx,carcinoma,-1,1	AEBP1	102	1	0			c.C260T						PASS	.	C	LEU/PRO	23,4365	26.2+/-53.5	0,23,2171	36	45	42		260	1.9	0.1	7	dbSNP_131	42	0,8586		0,0,4293	yes	missense	AEBP1	NM_001129.3	98	0,23,6464	TT,TC,CC		0.0,0.5242,0.1773	benign	87/1159	44146151	23,12951	2194	4293	6487	SO:0001583	missense	165	exon2			TGCCTCCGGAAAA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.260C>T	7.37:g.44146151C>T	ENSP00000223357:p.Pro87Leu	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	46	19	0.413043	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.09	3.025082	0.54683	0.005242	0.0	ENSG00000106624	ENST00000223357;ENST00000449162	D	0.94828	-3.53	4.9	1.92	0.25849	.	0.598172	0.14954	N	0.288777	D	0.84853	0.5564	L	0.27053	0.805	0.34323	D	0.68679	B	0.14805	0.011	B	0.08055	0.003	T	0.81575	-0.0870	10	0.87932	D	0	-1.0442	6.299	0.21101	0.0:0.6427:0.0:0.3573	.	87	Q8IUX7	AEBP1_HUMAN	L	87;3	ENSP00000223357:P87L	ENSP00000223357:P87L	P	+	2	0	AEBP1	44112676	0.000000	0.05858	0.071000	0.20095	0.651000	0.38670	0.214000	0.17541	0.079000	0.16929	0.462000	0.41574	CCG	C|0.999;T|0.001	0.001	strong		0.587	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		T	44146151	C	T	44146151	3	4	22	1	0	0	0	0	1	0	0	0	349	652	23	1	266	1	AEBP1	7	44146151	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29944	44146151	114992512	4165	9273										
AEBP1	165	hgsc.bcm.edu	37	chr7	44147485	44147485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagcgggtctggccagagCcccctgaggagaaggccccg	16	15	1	3	rs2537188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44147485C>A	ENST00000223357.3	+	5	1122	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	273	Pro-rich.		P -> T (in dbSNP:rs2537188).		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CTGGCCAGAGCCCCCTGAGGA	0.697													C|||	1790	0.357428	0.3684	0.2695	5008	,	,		13134	0.2738		0.3519	False		,,,				2504	0.4969				p.P273T		Atlas-SNP	.											AEBP1,NS,carcinoma,0,1	AEBP1	102	1	0			c.C817A						PASS	.	C	THR/PRO	1512,2824		285,942,941	10	13	12		817	1.4	0.1	7	dbSNP_100	12	3187,5327		639,1909,1709	no	missense	AEBP1	NM_001129.3	38	924,2851,2650	AA,AC,CC		37.4325,34.8708,36.5681	possibly-damaging	273/1159	44147485	4699,8151	2168	4257	6425	SO:0001583	missense	165	exon5			CCAGAGCCCCCTG	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.817C>A	7.37:g.44147485C>A	ENSP00000223357:p.Pro273Thr	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	170	76	0.447059	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	697	0.3191391941391941	148	0.3008130081300813	113	0.31215469613259667	155	0.270979020979021	281	0.370712401055409	C	8.109	0.778353	0.16120	0.348708	0.374325	ENSG00000106624	ENST00000223357	T	0.39997	1.05	4.54	1.41	0.22369	.	7.491200	0.00166	N	0.000008	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	9.000000000036756E-6	B	0.19817	0.039	B	0.14023	0.01	T	0.34950	-0.9808	9	0.48119	T	0.1	-0.4184	7.7789	0.29054	0.1715:0.4951:0.3335:0.0	rs2537188;rs60349212	273	Q8IUX7	AEBP1_HUMAN	T	273	ENSP00000223357:P273T	ENSP00000223357:P273T	P	+	1	0	AEBP1	44114010	0.001000	0.12720	0.074000	0.20217	0.361000	0.29550	0.387000	0.20718	0.318000	0.23185	0.491000	0.48974	CCC	C|0.678;A|0.322	0.322	strong		0.697	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44147485	C	A	44147485	3	1	22	1	0	0	0	0	1	0	0	0	349	739	26	4	835	4	AEBP1	7	44147485	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1334	44147485	114991178	4166	9274										
OGDH	4967	hgsc.bcm.edu	37	chr7	44747499	44747499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgccggccgggacccagcGgctgctccagccaccggcaa	13	17	0	0	rs2070606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44747499G>A	ENST00000222673.5	+	23	3015	c.2973G>A	c.(2971-2973)gcG>gcA	p.A991A	OGDH_ENST00000447398.1_Silent_p.A1002A|OGDH_ENST00000449767.1_Silent_p.A987A|OGDH_ENST00000543843.1_Silent_p.A942A|OGDH_ENST00000439616.2_Silent_p.A841A|OGDH_ENST00000444676.1_Silent_p.A1006A	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GGGACCCAGCGGCTGCTCCAG	0.647													G|||	1177	0.235024	0.4145	0.0706	5008	,	,		16733	0.3641		0.0219	False		,,,				2504	0.1953				p.A991A		Atlas-SNP	.											.	OGDH	145	.	0			c.G2973A						PASS	.	G	,	1540,2866	483.3+/-359.7	282,976,945	49	47	48		2961,2973	-10	0	7	dbSNP_96	48	142,8458	68.4+/-130.8	2,138,4160	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	284,1114,5105	AA,AG,GG		1.6512,34.9523,12.9325	,	987/1020,991/1024	44747499	1682,11324	2203	4300	6503	SO:0001819	synonymous_variant	4967	exon23			CCCAGCGGCTGCT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2973G>A	7.37:g.44747499G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	72	20	0.277778	NM_002541	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			G|0.856;A|0.144	0.144	strong		0.647	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44747499	G	A	44747499	2	1	22	1	0	0	0	0	0	0	0	1	10839	1103	39	1		1	OGDH	7	44747499	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	600014	44747499	114391164	4167	9275										
ZMIZ2	83637	hgsc.bcm.edu	37	chr7	44804989	44804989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctggaagccagtgcccGtgaagcctgacatgcacatc	12	13	0	2	rs114574038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:44804989G>A	ENST00000309315.4	+	16	2176	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V653M|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V659M|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V627M|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V685M	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	685					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCAGTGCCCGTGAAGCCTGA	0.637													G|||	47	0.00938498	0.0333	0.0043	5008	,	,		15398	0.0		0.0	False		,,,				2504	0.0				p.V685M	NSCLC(20;604 852 1948 16908 50522)	Atlas-SNP	.											.	ZMIZ2	82	.	0			c.G2053A						PASS	.	G	MET/VAL,MET/VAL	122,4158		1,120,2019	37	40	39		2053,1975	3.2	0.9	7	dbSNP_132	39	2,8500		0,2,4249	yes	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	21,21	1,122,6268	AA,AG,GG		0.0235,2.8505,0.9701	possibly-damaging,possibly-damaging	685/921,659/895	44804989	124,12658	2140	4251	6391	SO:0001583	missense	83637	exon16			GTGCCCGTGAAGC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2053G>A	7.37:g.44804989G>A	ENSP00000311778:p.Val685Met	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_031449	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	20	0.009157509157509158	16	0.032520325203252036	2	0.0055248618784530384	2	0.0034965034965034965	0	0.0	G	19.81	3.896626	0.72639	0.028505	2.35E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32753	1.44;1.45;1.45;1.45;1.44	5.14	3.18	0.36537	.	0.277121	0.24642	N	0.036798	T	0.19446	0.0467	M	0.73598	2.24	0.52501	D	0.999953	P;P;P	0.50156	0.932;0.888;0.932	P;P;P	0.54100	0.656;0.557;0.742	T	0.06463	-1.0825	10	0.45353	T	0.12	-7.8333	7.1482	0.25595	0.284:0.0:0.716:0.0	.	659;685;627	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	M	627;685;685;653;659;688	ENSP00000409648:V627M;ENSP00000311778:V685M;ENSP00000414723:V685M;ENSP00000396601:V653M;ENSP00000265346:V659M	ENSP00000265346:V659M	V	+	1	0	ZMIZ2	44771514	0.800000	0.28916	0.881000	0.34555	0.984000	0.73092	1.202000	0.32271	1.398000	0.46701	0.561000	0.74099	GTG	G|0.990;A|0.010	0.010	strong		0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44804989	G	A	44804989	3	1	22	1	0	0	0	0	1	0	0	0	17694	1145	40	1	2111	1	ZMIZ2	7	44804989	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57490	44804989	114333674	4168	9276										
TNS3	64759	hgsc.bcm.edu	37	chr7	47343079	47343079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtccttcctggtaccggAgaactcagcgctgaggggac	15	11	1	2	rs61731305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47343079A>G	ENST00000398879.1	-	22	3292	c.2926T>C	c.(2926-2928)Tcc>Ccc	p.S976P	TNS3_ENST00000355730.3_Missense_Mutation_p.S736P|TNS3_ENST00000311160.9_Missense_Mutation_p.S976P			Q68CZ2	TENS3_HUMAN	tensin 3	976					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGGTACCGGAGAACTCAGCG	0.652													A|||	50	0.00998403	0.0371	0.0014	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.0				p.S976P		Atlas-SNP	.											.	TNS3	140	.	0			c.T2926C						PASS	.	A	PRO/SER	110,3944		1,108,1918	24	30	28		2926	-4.5	0	7	dbSNP_129	28	1,8365		0,1,4182	yes	missense	TNS3	NM_022748.11	74	1,109,6100	GG,GA,AA		0.012,2.7134,0.8937	benign	976/1446	47343079	111,12309	2027	4183	6210	SO:0001583	missense	64759	exon22			TACCGGAGAACTC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2926T>C	7.37:g.47343079A>G	ENSP00000381854:p.Ser976Pro	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	94	55	0.585106	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	A	7.817	0.717014	0.15372	0.027134	1.2E-4	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94828	-3.07;-3.07;-3.53;-3.23	5.34	-4.47	0.03525	.	1.008340	0.07998	N	0.988200	T	0.56891	0.2016	N	0.08118	0	0.24069	N	0.995984	B	0.02656	0.0	B	0.04013	0.001	T	0.65516	-0.6149	10	0.25751	T	0.34	-5.9377	1.8322	0.03132	0.4155:0.1339:0.3198:0.1308	.	976	Q68CZ2	TENS3_HUMAN	P	976;1086;976;736;432;1079	ENSP00000312143:S976P;ENSP00000381854:S976P;ENSP00000347968:S736P;ENSP00000414358:S1079P	ENSP00000312143:S976P	S	-	1	0	TNS3	47309604	0.942000	0.31987	0.002000	0.10522	0.058000	0.15608	0.267000	0.18552	-0.660000	0.05352	0.528000	0.53228	TCC	A|0.989;G|0.011	0.011	strong		0.652	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		G	47343079	A	G	47343079	3	3	22	1	0	0	0	0	1	0	0	0	16341	304	11	3	1451	3	TNS3	7	47343079	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2538090	47343079	111795584	4169	9277										
C7orf65	401335	hgsc.bcm.edu	37	chr7	47698737	47698737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctatacataaatggtttcActgacccctggaaggatgct	9	9	1	1	rs114109572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47698737A>C	ENST00000408988.2	+	3	402	c.367A>C	c.(367-369)Act>Cct	p.T123P		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	123										endometrium(1)|lung(2)	3						AAATGGTTTCACTGACCCCTG	0.537													A|||	8	0.00159744	0.0061	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.0				p.T123P		Atlas-SNP	.											.	C7orf65	18	.	0			c.A367C						PASS	.	A	PRO/THR	16,3120		0,16,1552	126	114	118		367	0.6	0	7	dbSNP_132	118	0,7164		0,0,3582	yes	missense	C7orf65	NM_001123065.1	38	0,16,5134	CC,CA,AA		0.0,0.5102,0.1553	probably-damaging	123/152	47698737	16,10284	1568	3582	5150	SO:0001583	missense	401335	exon3			GGTTTCACTGACC		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.367A>C	7.37:g.47698737A>C	ENSP00000386198:p.Thr123Pro	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_001123065	A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	CCDS43580.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	6.306	0.424633	0.11928	0.005102	0.0	ENSG00000221845	ENST00000408988	.	.	.	0.559	0.559	0.17272	.	.	.	.	.	T	0.26011	0.0634	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.16928	-1.0386	7	0.87932	D	0	.	.	.	.	.	123	Q6ZTY9	CG065_HUMAN	P	123	.	ENSP00000386198:T123P	T	+	1	0	C7orf65	47665262	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.017000	0.13399	0.469000	0.27268	0.459000	0.35465	ACT	A|0.999;C|0.001	0.001	strong		0.537	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065		C	47698737	A	C	47698737	3	2	22	1	0	0	0	0	1	0	0	0	2411	159	6	5	377	5	C7orf65	7	47698737	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	355658	47698737	111439926	4170	9278										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47920345	47920345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacagacacttgcaggacGtacgtctctccactgctcag	8	16	2	1	rs62447081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47920345G>A	ENST00000289672.2	-	21	3551	c.3501C>T	c.(3499-3501)taC>taT	p.Y1167Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1167	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTGCAGGACGTACGTCTCTC	0.463													g|||	1703	0.340056	0.59	0.3429	5008	,	,		19115	0.0952		0.2932	False		,,,				2504	0.3006				p.Y1167Y		Atlas-SNP	.											.	PKD1L1	328	.	0			c.C3501T						PASS	.	A		2416,1990	616.4+/-392.8	651,1114,438	214	165	182		3501	-5.1	0	7	dbSNP_129	182	2442,6158	403.4+/-347.8	342,1758,2200	no	coding-synonymous	PKD1L1	NM_138295.3		993,2872,2638	AA,AG,GG		28.3953,45.1657,37.352		1167/2850	47920345	4858,8148	2203	4300	6503	SO:0001819	synonymous_variant	168507	exon21			CAGGACGTACGTC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3501C>T	7.37:g.47920345G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	144	57	0.395833	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			G|0.645;A|0.355	0.355	strong		0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47920345	G	A	47920345	2	1	22	1	0	0	0	0	0	0	0	1	11964	1140	40	1		1	PKD1L1	7	47920345	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	221608	47920345	111218318	4171	9279										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47924233	47924233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggtattgcttcttgaatGtcactgtaataggcttcaaa	9	6	3	1	rs79566365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47924233G>A	ENST00000289672.2	-	19	3278	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1076	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTCTTGAATGTCACTGTAAT	0.448													A|||	194	0.038738	0.1377	0.0101	5008	,	,		20921	0.0		0.004	False		,,,				2504	0.001				p.D1076D		Atlas-SNP	.											.	PKD1L1	328	.	0			c.C3228T						PASS	.	A		641,3765	767.0+/-413.5	47,547,1609	147	131	136		3228	-4.3	0	7	dbSNP_132	136	85,8515	815.6+/-407.0	1,83,4216	no	coding-synonymous	PKD1L1	NM_138295.3		48,630,5825	AA,AG,GG		0.9884,14.5483,5.582		1076/2850	47924233	726,12280	2203	4300	6503	SO:0001819	synonymous_variant	168507	exon19			TTGAATGTCACTG	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3228C>T	7.37:g.47924233G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	92	36	0.391304	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			G|0.951;A|0.049	0.049	strong		0.448	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47924233	G	A	47924233	2	1	22	1	0	0	0	0	0	0	0	1	11964	1368	48	2		2	PKD1L1	7	47924233	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3888	47924233	111214430	4172	9280										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47925331	47925331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctgacttctctcagagCggccagtcatcagggatccc	12	13	4	2	rs10274334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47925331C>G	ENST00000289672.2	-	18	3208	c.3158G>C	c.(3157-3159)cGc>cCc	p.R1053P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1053	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		R -> P (in dbSNP:rs10274334).		detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTCTCAGAGCGGCCAGTCAT	0.597													G|||	2931	0.585264	0.8094	0.5706	5008	,	,		18449	0.6359		0.4592	False		,,,				2504	0.3701				p.R1053P		Atlas-SNP	.											.	PKD1L1	328	.	0			c.G3158C						PASS	.	G	PRO/ARG	3237,1169	395.1+/-329.5	1198,841,164	72	81	78		3158	-1.8	0	7	dbSNP_119	78	3619,4981	621.9+/-397.2	743,2133,1424	yes	missense	PKD1L1	NM_138295.3	103	1941,2974,1588	GG,GC,CC		42.0814,26.532,47.2859	benign	1053/2850	47925331	6856,6150	2203	4300	6503	SO:0001583	missense	168507	exon18			TCAGAGCGGCCAG	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3158G>C	7.37:g.47925331C>G	ENSP00000289672:p.Arg1053Pro	Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	1306	0.597985347985348	394	0.8008130081300813	196	0.5414364640883977	370	0.6468531468531469	346	0.45646437994722955	G	7.105	0.574944	0.13623	0.73468	0.420814	ENSG00000158683	ENST00000289672	T	0.19250	2.16	4.04	-1.82	0.07857	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.615670	0.02220	N	0.063933	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	9	0.14656	T	0.56	-7.6581	3.3665	0.07206	0.0888:0.3942:0.2495:0.2674	rs10274334;rs59743249;rs10274334	1053	Q8TDX9	PK1L1_HUMAN	P	1053	ENSP00000289672:R1053P	ENSP00000289672:R1053P	R	-	2	0	PKD1L1	47891856	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.274000	0.08537	-0.514000	0.06488	-0.132000	0.14878	CGC	C|0.438;G|0.562	0.562	strong		0.597	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47925331	C	G	47925331	3	3	22	1	0	0	0	0	1	0	0	0	11964	768	27	4	5551	4	PKD1L1	7	47925331	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1098	47925331	111213332	4173	9281										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47925485	47925485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttccccttggagctgaagTggcaggttggccaagggtca	16	9	1	1	rs113527998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47925485T>G	ENST00000289672.2	-	18	3054	c.3004A>C	c.(3004-3006)Act>Cct	p.T1002P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1002	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGCTGAAGTGGCAGGTTGG	0.607													G|||	199	0.0397364	0.1407	0.0101	5008	,	,		16333	0.0		0.005	False		,,,				2504	0.001				p.T1002P		Atlas-SNP	.											.	PKD1L1	328	.	0			c.A3004C						PASS	.	G	PRO/THR	657,3749	765.5+/-413.4	51,555,1597	86	87	86		3004	0.5	0	7	dbSNP_132	86	85,8515	815.6+/-407.0	1,83,4216	yes	missense	PKD1L1	NM_138295.3	38	52,638,5813	GG,GT,TT		0.9884,14.9115,5.7051	benign	1002/2850	47925485	742,12264	2203	4300	6503	SO:0001583	missense	168507	exon18			CTGAAGTGGCAGG	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3004A>C	7.37:g.47925485T>G	ENSP00000289672:p.Thr1002Pro	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	198	81	0.409091	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	88	0.040293040293040296	81	0.16463414634146342	4	0.011049723756906077	0	0.0	3	0.00395778364116095	G	8.197	0.797394	0.16327	0.149115	0.009884	ENSG00000158683	ENST00000289672	T	0.20332	2.08	4.97	0.5	0.16919	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2744.040000	0.00166	N	0.000000	T	0.00039	0.0001	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	9	0.29301	T	0.29	0.945	0.5519	0.00664	0.2174:0.1517:0.32:0.3108	.	1002	Q8TDX9	PK1L1_HUMAN	P	1002	ENSP00000289672:T1002P	ENSP00000289672:T1002P	T	-	1	0	PKD1L1	47892010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.344000	0.08338	-0.132000	0.14878	ACT	T|0.950;G|0.050	0.050	strong		0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47925485	T	G	47925485	3	3	22	1	0	0	0	0	1	0	0	0	11964	1696	59	5	5705	5	PKD1L1	7	47925485	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	154	47925485	111213178	4174	9282										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47925609	47925609	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgactctgaaatggcaccGagtcccagcgagccaagcag	12	12	1	2	rs78480673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47925609G>A	ENST00000289672.2	-	18	2930	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	960	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAATGGCACCGAGTCCCAGCG	0.488													g|||	194	0.038738	0.1377	0.0101	5008	,	,		17976	0.0		0.004	False		,,,				2504	0.001				p.L960L		Atlas-SNP	.											PKD1L1,NS,carcinoma,0,2	PKD1L1	328	2	0			c.C2880T						PASS	.	A		638,3768	272.8+/-271.0	47,544,1612	60	56	58		2880	-9.9	0	7	dbSNP_132	58	85,8515	48.1+/-107.5	1,83,4216	no	coding-synonymous	PKD1L1	NM_138295.3		48,627,5828	AA,AG,GG		0.9884,14.4803,5.559		960/2850	47925609	723,12283	2203	4300	6503	SO:0001819	synonymous_variant	168507	exon18			GGCACCGAGTCCC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2880C>T	7.37:g.47925609G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	128	65	0.507812	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			G|0.951;A|0.049	0.049	strong		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47925609	G	A	47925609	2	1	22	1	0	0	0	0	0	0	0	1	11964	1045	37	1		1	PKD1L1	7	47925609	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	124	47925609	111213054	4175	9283										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47927650	47927650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggaataagacagattcGgtatttcactgcagtcctca	8	11	2	2	rs79105203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47927650G>A	ENST00000289672.2	-	17	2824	c.2774C>T	c.(2773-2775)cCg>cTg	p.P925L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	925	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGACAGATTCGGTATTTCACT	0.398													G|||	230	0.0459265	0.1641	0.0115	5008	,	,		21650	0.0		0.004	False		,,,				2504	0.001				p.P925L		Atlas-SNP	.											PKD1L1,colon,carcinoma,0,1	PKD1L1	328	1	0			c.C2774T						scavenged	.	G	LEU/PRO	738,3668	302.1+/-287.2	68,602,1533	123	115	118		2774	-4.2	0	7	dbSNP_132	118	85,8515	48.1+/-107.5	1,83,4216	yes	missense	PKD1L1	NM_138295.3	98	69,685,5749	AA,AG,GG		0.9884,16.7499,6.3278	benign	925/2850	47927650	823,12183	2203	4300	6503	SO:0001583	missense	168507	exon17			AGATTCGGTATTT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2774C>T	7.37:g.47927650G>A	ENSP00000289672:p.Pro925Leu	Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	100	0.045787545787545784	92	0.18699186991869918	5	0.013812154696132596	0	0.0	3	0.00395778364116095	G	7.863	0.726477	0.15439	0.167499	0.009884	ENSG00000158683	ENST00000289672	T	0.69306	-0.39	5.65	-4.17	0.03857	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.960750	0.02041	N	0.049260	T	0.00109	0.0003	L	0.27053	0.805	0.80722	P	0.0	B	0.17268	0.021	B	0.10450	0.005	T	0.04635	-1.0937	9	0.37606	T	0.19	0.0986	5.9318	0.19142	0.1912:0.0:0.3612:0.4476	.	925	Q8TDX9	PK1L1_HUMAN	L	925	ENSP00000289672:P925L	ENSP00000289672:P925L	P	-	2	0	PKD1L1	47894175	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.980000	0.01492	-0.571000	0.06014	-0.978000	0.02582	CCG	G|0.945;A|0.055	0.055	strong		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47927650	G	A	47927650	3	1	22	1	0	0	0	0	1	0	0	0	11964	1116	39	1	5939	1	PKD1L1	7	47927650	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2041	47927650	111211013	4176	9284										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47933494	47933494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgagagtcgccccagggtCgtcagggtcgaaggactggg	17	11	1	1	rs17131915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47933494C>T	ENST00000289672.2	-	15	2484	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	812	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		D -> N (in dbSNP:rs17131915).		detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCCAGGGTCGTCAGGGTCG	0.612													T|||	104	0.0207668	0.0741	0.0014	5008	,	,		17811	0.005		0.0	False		,,,				2504	0.0				p.D812N		Atlas-SNP	.											.	PKD1L1	328	.	0			c.G2434A						PASS	.	T	ASN/ASP	237,4169		5,227,1971	47	36	40		2434	-8.5	0	7	dbSNP_123	40	0,8600		0,0,4300	yes	missense	PKD1L1	NM_138295.3	23	5,227,6271	TT,TC,CC		0.0,5.379,1.8222	benign	812/2850	47933494	237,12769	2203	4300	6503	SO:0001583	missense	168507	exon15			CAGGGTCGTCAGG	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2434G>A	7.37:g.47933494C>T	ENSP00000289672:p.Asp812Asn	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	46	0.021062271062271064	41	0.08333333333333333	1	0.0027624309392265192	4	0.006993006993006993	0	0.0	N	8.513	0.867001	0.17250	0.05379	0.0	ENSG00000158683	ENST00000289672	T	0.69306	-0.39	5.12	-8.54	0.00912	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.892900	0.03306	N	0.189835	T	0.01254	0.0041	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09143	-1.0688	10	0.26408	T	0.33	-0.013	0.2929	0.00261	0.2928:0.2218:0.2594:0.226	rs17131915;rs52800675;rs17131915	812	Q8TDX9	PK1L1_HUMAN	N	812	ENSP00000289672:D812N	ENSP00000289672:D812N	D	-	1	0	PKD1L1	47900019	0.000000	0.05858	0.002000	0.10522	0.571000	0.35966	-3.364000	0.00496	-1.993000	0.00974	-0.389000	0.06534	GAC	C|0.974;T|0.026	0.026	strong		0.612	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47933494	C	T	47933494	3	4	22	1	0	0	0	0	1	0	0	0	11964	884	31	1	6287	1	PKD1L1	7	47933494	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5844	47933494	111205169	4177	9285										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47955167	47955167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtaggtggacatatccaActgaaaatgtaaaagatgaa	9	4	0	3	rs17131941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:47955167A>G	ENST00000289672.2	-	8	1140	c.1090T>C	c.(1090-1092)Ttg>Ctg	p.L364L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	364					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GACATAtccaactgaaaatgt	0.323													A|||	90	0.0179712	0.0658	0.0043	5008	,	,		16011	0.0		0.0	False		,,,				2504	0.0				p.L364L		Atlas-SNP	.											.	PKD1L1	328	.	0			c.T1090C						PASS	.	A		173,4233	113.3+/-151.4	3,167,2033	78	76	77		1090	0.4	0	7	dbSNP_123	77	0,8600		0,0,4300	no	coding-synonymous	PKD1L1	NM_138295.3		3,167,6333	GG,GA,AA		0.0,3.9265,1.3302		364/2850	47955167	173,12833	2203	4300	6503	SO:0001819	synonymous_variant	168507	exon8			TATCCAACTGAAA	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1090T>C	7.37:g.47955167A>G		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	24	0.55814	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			A|0.981;G|0.019	0.019	strong		0.323	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47955167	A	G	47955167	2	3	22	1	0	0	0	0	0	0	0	1	11964	40	2	2		2	PKD1L1	7	47955167	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21673	47955167	111183496	4178	9286										
HUS1	3364	hgsc.bcm.edu	37	chr7	48008869	48008869	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtaacacatactaattcaGtttctattttcaaattcaat	2	7	4	0	rs138848570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48008869G>C	ENST00000258774.5	-	6	610	c.587C>G	c.(586-588)aCt>aGt	p.T196S	HUS1_ENST00000432325.1_Missense_Mutation_p.T175S	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	196					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TACTAATTCAGTTTCTATTTT	0.294								Direct reversal of damage;Other conserved DNA damage response genes			OREG0018063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	21	0.00419329	0.0159	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0				p.T196S	Ovarian(103;466 1517 21788 34610 43890)	Atlas-SNP	.											.	HUS1	36	.	0			c.C587G						PASS	.	G	SER/THR	20,4378	28.1+/-56.4	1,18,2180	95	99	98		587	5.2	1	7	dbSNP_134	98	0,8600		0,0,4300	yes	missense	HUS1	NM_004507.3	58	1,18,6480	CC,CG,GG		0.0,0.4548,0.1539	benign	196/281	48008869	20,12978	2199	4300	6499	SO:0001583	missense	3364	exon6			AATTCAGTTTCTA	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.587C>G	7.37:g.48008869G>C	ENSP00000258774:p.Thr196Ser	Somatic	51	0	0	951	WXS	Illumina HiSeq	Phase_I	53	21	0.396226	NM_004507	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	G	16.67	3.187502	0.57909	0.004548	0.0	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627	T;T;T	0.13196	2.61;2.61;2.61	5.19	5.19	0.71726	.	0.052227	0.85682	N	0.000000	T	0.02888	0.0086	L	0.46567	1.45	0.54753	D	0.999987	B	0.30033	0.266	B	0.40228	0.323	T	0.07829	-1.0752	10	0.22109	T	0.4	-12.6777	16.5638	0.84573	0.0:0.0:1.0:0.0	.	196	O60921	HUS1_HUMAN	S	196;175;175	ENSP00000258774:T196S;ENSP00000416588:T175S;ENSP00000404855:T175S	ENSP00000258774:T196S	T	-	2	0	HUS1	47975394	1.000000	0.71417	0.951000	0.38953	0.999000	0.98932	7.975000	0.88055	2.563000	0.86464	0.655000	0.94253	ACT	G|0.996;C|0.004	0.004	strong		0.294	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		C	48008869	G	C	48008869	3	2	22	1	0	0	0	0	1	0	0	0	7459	1029	36	4	267	4	HUS1	7	48008869	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53702	48008869	111129794	4179	9287										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48313757	48313757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttaaatgattccacaaaGcaagtaaggatgagtatcaa	7	6	1	2	rs77190804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48313757G>A	ENST00000435803.1	+	17	4518	c.4494G>A	c.(4492-4494)aaG>aaA	p.K1498K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1498					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						ATTCCACAAAGCAAGTAAGGA	0.289													G|||	482	0.096246	0.143	0.0548	5008	,	,		17436	0.1498		0.0477	False		,,,				2504	0.0573				p.K1498K		Atlas-SNP	.											.	ABCA13	1192	.	0			c.G4494A						PASS	.	G		395,3233		24,347,1443	26	27	27		4494	1.3	0.4	7	dbSNP_131	27	469,7645		12,445,3600	no	coding-synonymous	ABCA13	NM_152701.3		36,792,5043	AA,AG,GG		5.7801,10.8875,7.3582		1498/5059	48313757	864,10878	1814	4057	5871	SO:0001819	synonymous_variant	154664	exon17			CACAAAGCAAGTA	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.4494G>A	7.37:g.48313757G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	132	55	0.416667	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			G|0.901;A|0.099	0.099	strong		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48313757	G	A	48313757	2	1	22	1	0	0	0	0	0	0	0	1	31	962	34	2		2	ABCA13	7	48313757	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	304888	48313757	110824906	4180	9288										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48313881	48313881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgaaattcctaatcagTttcaaaatatttggcttcat	5	7	3	2	rs17712299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48313881T>C	ENST00000435803.1	+	17	4642	c.4618T>C	c.(4618-4620)Ttt>Ctt	p.F1540L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1540			F -> L (in dbSNP:rs17712299).		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						TCCTAATCAGTTTCAAAATAT	0.303													T|||	483	0.0964457	0.143	0.0548	5008	,	,		17567	0.1498		0.0487	False		,,,				2504	0.0573				p.F1540L		Atlas-SNP	.											.	ABCA13	1192	.	0			c.T4618C						PASS	.	T	LEU/PHE	398,3212		23,352,1430	41	42	41		4618	5.3	0.8	7	dbSNP_123	41	468,7628		13,442,3593	yes	missense	ABCA13	NM_152701.3	22	36,794,5023	CC,CT,TT		5.7806,11.0249,7.3979	probably-damaging	1540/5059	48313881	866,10840	1805	4048	5853	SO:0001583	missense	154664	exon17			AATCAGTTTCAAA	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.4618T>C	7.37:g.48313881T>C	ENSP00000411096:p.Phe1540Leu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	75	30	0.4	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	239	0.10943223443223443	80	0.16260162601626016	25	0.06906077348066299	96	0.16783216783216784	38	0.05013192612137203	T	17.56	3.420584	0.62622	0.110249	0.057806	ENSG00000179869	ENST00000435803	D	0.91631	-2.88	5.28	5.28	0.74379	.	0.000000	0.48286	D	0.000187	T	0.05456	0.0144	M	0.66939	2.045	0.09310	P	1.0	D	0.69078	0.997	D	0.75020	0.985	T	0.31971	-0.9924	8	.	.	.	.	13.2284	0.59927	0.0:0.0:0.0:1.0	rs17712299;rs17712299	1540	Q86UQ4	ABCAD_HUMAN	L	1540	ENSP00000411096:F1540L	.	F	+	1	0	ABCA13	48284427	0.614000	0.27017	0.788000	0.31933	0.576000	0.36127	2.325000	0.43840	2.125000	0.65367	0.460000	0.39030	TTT	T|0.884;C|0.116	0.116	strong		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48313881	T	C	48313881	3	2	22	1	0	0	0	0	1	0	0	0	31	1725	60	2	4513	2	ABCA13	7	48313881	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	124	48313881	110824782	4181	9289										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48317708	48317708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttttgtcccaaaagataAaattctagaaattctgaaac	5	7	2	3	rs78334925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48317708A>C	ENST00000435803.1	+	18	6941	c.6917A>C	c.(6916-6918)aAa>aCa	p.K2306T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2306					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						CCAAAAGATAAAATTCTAGAA	0.234													A|||	487	0.0972444	0.1452	0.0548	5008	,	,		10236	0.1508		0.0487	False		,,,				2504	0.0573				p.K2306T		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A6917C						PASS	.	A	THR/LYS	352,3094		19,314,1390	11	10	11		6917	3.7	0.5	7	dbSNP_131	11	426,7404		15,396,3504	yes	missense	ABCA13	NM_152701.3	78	34,710,4894	CC,CA,AA		5.4406,10.2147,6.8996	probably-damaging	2306/5059	48317708	778,10498	1723	3915	5638	SO:0001583	missense	154664	exon18			AAGATAAAATTCT	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.6917A>C	7.37:g.48317708A>C	ENSP00000411096:p.Lys2306Thr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	26	0.382353	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	242	0.1108058608058608	81	0.16463414634146342	25	0.06906077348066299	97	0.16958041958041958	39	0.051451187335092345	A	12.75	2.032480	0.35893	0.102147	0.054406	ENSG00000179869	ENST00000435803	T	0.60040	0.22	4.88	3.68	0.42216	.	0.000000	0.52532	D	0.000070	T	0.00210	0.0006	M	0.61703	1.905	0.09310	P	0.9999999402452	B	0.27997	0.197	B	0.28638	0.092	T	0.11446	-1.0587	9	0.87932	D	0	.	8.7131	0.34395	0.8074:0.1926:0.0:0.0	.	2306	Q86UQ4	ABCAD_HUMAN	T	2306	ENSP00000411096:K2306T	ENSP00000411096:K2306T	K	+	2	0	ABCA13	48288254	0.970000	0.33590	0.509000	0.27700	0.979000	0.70002	1.860000	0.39428	0.781000	0.33589	0.528000	0.53228	AAA	A|0.900;C|0.100	0.100	strong		0.234	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48317708	A	C	48317708	3	2	22	1	0	0	0	0	1	0	0	0	31	14	1	5	6816	5	ABCA13	7	48317708	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3827	48317708	110820955	4182	9290										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48452147	48452147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcatcagctgcacctgacGggctatgggatctcagacac	11	13	2	2	rs369363967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48452147G>A	ENST00000435803.1	+	41	12450	c.12426G>A	c.(12424-12426)acG>acA	p.T4142T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4142					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						TGCACCTGACGGGCTATGGGA	0.478													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0				p.T4142T		Atlas-SNP	.											.	ABCA13	1192	.	0			c.G12426A						PASS	.	G		24,3846		0,24,1911	80	75	77		12426	-9.9	0	7		77	0,8308		0,0,4154	no	coding-synonymous	ABCA13	NM_152701.3		0,24,6065	AA,AG,GG		0.0,0.6202,0.1971		4142/5059	48452147	24,12154	1935	4154	6089	SO:0001819	synonymous_variant	154664	exon41			CCTGACGGGCTAT	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.12426G>A	7.37:g.48452147G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	152	85	0.559211	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.	.	weak		0.478	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48452147	G	A	48452147	2	1	22	1	0	0	0	0	0	0	0	1	31	1103	39	1		1	ABCA13	7	48452147	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	134439	48452147	110686516	4183	9291										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48506566	48506566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcagcagtgggggcgacAacttggacctcacccgtgtg	14	12	1	0	rs4917152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48506566A>G	ENST00000435803.1	+	44	12853	c.12829A>G	c.(12829-12831)Aac>Gac	p.N4277D	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4277			N -> D (in dbSNP:rs4917152).		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						TGGGGGCGACAACTTGGACCT	0.498													G|||	1156	0.230831	0.3525	0.2608	5008	,	,		16829	0.2163		0.1491	False		,,,				2504	0.1442				p.N4277D		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A12829G						PASS	.	G	ASP/ASN	1219,2921		166,887,1017	107	116	113		12829	1.5	0	7	dbSNP_111	113	1020,7400		55,910,3245	yes	missense	ABCA13	NM_152701.3	23	221,1797,4262	GG,GA,AA		12.114,29.4444,17.8264	benign	4277/5059	48506566	2239,10321	2070	4210	6280	SO:0001583	missense	154664	exon44			GGCGACAACTTGG	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.12829A>G	7.37:g.48506566A>G	ENSP00000411096:p.Asn4277Asp	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	107	54	0.504673	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	493	0.22573260073260074	156	0.3170731707317073	91	0.2513812154696133	128	0.22377622377622378	118	0.15567282321899736	G	0.065	-1.215318	0.01542	0.294444	0.12114	ENSG00000179869	ENST00000435803	D	0.85013	-1.93	5.29	1.49	0.22878	.	0.841374	0.10012	N	0.727113	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05649	-1.0872	9	0.02654	T	1	.	8.1325	0.31035	0.4133:0.0:0.5867:0.0	rs4917152;rs10358914;rs17132360;rs52799285;rs4917152	1979;4277	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	D	4277	ENSP00000411096:N4277D	ENSP00000411096:N4277D	N	+	1	0	ABCA13	48477112	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.337000	0.33862	-0.123000	0.11745	-1.551000	0.00897	AAC	A|0.777;G|0.223	0.223	strong		0.498	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48506566	A	G	48506566	3	3	22	1	0	0	0	0	1	0	0	0	31	130	5	2	12832	2	ABCA13	7	48506566	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	54419	48506566	110632097	4184	9292										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48506642	48506642	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagatttaaacccacgccAgtaagtgtcaggtgctctct	9	11	2	1	rs4917153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:48506642A>G	ENST00000435803.1	+	44	12929	c.12905A>G	c.(12904-12906)cAg>cGg	p.Q4302R	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4302			Q -> R (in dbSNP:rs4917153).		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						AACCCACGCCAGTAAGTGTCA	0.473													A|||	1155	0.230631	0.3525	0.2594	5008	,	,		16407	0.2163		0.1491	False		,,,				2504	0.1442				p.Q4302R		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A12905G						PASS	.	A	ARG/GLN	1137,2767		154,829,969	106	109	108		12905	-4.2	0	7	dbSNP_111	108	1004,7328		53,898,3215	yes	missense-near-splice	ABCA13	NM_152701.3	43	207,1727,4184	GG,GA,AA		12.0499,29.124,17.4975	benign	4302/5059	48506642	2141,10095	1952	4166	6118	SO:0001630	splice_region_variant	154664	exon44			CACGCCAGTAAGT	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.12905+1A>G	7.37:g.48506642A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	493	0.22573260073260074	156	0.3170731707317073	91	0.2513812154696133	128	0.22377622377622378	118	0.15567282321899736	A	6.840	0.524274	0.13066	0.29124	0.120499	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	5.29	-4.24	0.03777	.	2.536950	0.02036	N	0.048937	T	0.00012	0.0000	N	0.04508	-0.205	0.20975	P	0.999813732	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06625	-1.0816	9	0.14656	T	0.56	.	4.4949	0.11831	0.5493:0.166:0.0:0.2847	rs4917153;rs10359028;rs52807126;rs60526568;rs4917153	2004;4302	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	4302	ENSP00000411096:Q4302R	ENSP00000411096:Q4302R	Q	+	2	0	ABCA13	48477188	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.436000	0.02421	-0.497000	0.06641	-0.339000	0.08088	CAG	A|0.777;G|0.223	0.223	strong		0.473	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Missense_Mutation	G	48506642	A	G	48506642	5	3	22	1	0	0	0	0	0	0	1	0	31	202	7	3	12908	3	ABCA13	7	48506642	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76	48506642	110632021	4185	9293										
IKZF1	10320	hgsc.bcm.edu	37	chr7	50467767	50467767	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcccgctggtgcagacgccCccgggcggttccgaggtggt	17	15	0	1	rs61731355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:50467767C>A	ENST00000331340.3	+	8	1157	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	IKZF1_ENST00000349824.4_Silent_p.P191P|IKZF1_ENST00000346667.4_Silent_p.P104P|IKZF1_ENST00000438033.1_Silent_p.P247P|IKZF1_ENST00000359197.5_Silent_p.P292P|IKZF1_ENST00000439701.1_Silent_p.P292P|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.P247P|IKZF1_ENST00000357364.4_Silent_p.P247P	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	334					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGCAGACGCCCCCGGGCGGTT	0.657			"D,T"	BCL6	"ALL, DLBCL"								C|||	746	0.148962	0.0908	0.196	5008	,	,		14198	0.0546		0.2296	False		,,,				2504	0.2086				p.P334P		Atlas-SNP	.		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	IKZF1_ENST00000331340,NS,carcinoma,0,1	IKZF1	613	1	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)	c.C1002A						PASS	.	C	,,,,,,,,,,,,	401,3625		19,363,1631	13	16	15		716,581,551,581,455,425,413,155,424,394,292,262,842	-2.3	0.6	7	dbSNP_129	15	1538,6786		155,1228,2779	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF1	NM_001220765.1,NM_001220766.1,NM_001220767.1,NM_001220768.1,NM_001220769.1,NM_001220770.1,NM_001220771.1,NM_001220772.1,NM_001220773.1,NM_001220774.1,NM_001220775.1,NM_001220776.1,NM_006060.4	,,,,,,,,,,,,	174,1591,4410	AA,AC,CC		18.4767,9.9603,15.7004	,,,,,,,,,,,,	292/478,247/433,237/423,247/433,205/391,195/381,191/377,64/250,151/337,141/327,109/295,99/285,334/520	50467767	1939,10411	2013	4162	6175	SO:0001819	synonymous_variant	10320	exon8			GACGCCCCCGGGC	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1002C>A	7.37:g.50467767C>A		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	55	30	0.545455	NM_006060	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																				C|0.852;A|0.148	0.148	strong		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		A	50467767	C	A	50467767	2	1	22	1	0	0	0	0	0	0	0	1	7614	610	22	4		4	IKZF1	7	50467767	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1961125	50467767	108670896	4186	9294										
DDC	1644	hgsc.bcm.edu	37	chr7	50607694	50607694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctggcagtggggaagtaGgcgaagaagtaggggctgtg	21	4	0	1	rs11575302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:50607694G>A	ENST00000444124.2	-	3	434	c.234C>T	c.(232-234)gcC>gcT	p.A78A	DDC_ENST00000431062.1_Silent_p.A78A|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Silent_p.A78A|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.A78A|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	78	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGGGGAAGTAGGCGAAGAAGT	0.642													G|||	224	0.0447284	0.1415	0.0144	5008	,	,		20045	0.001		0.0169	False		,,,				2504	0.0092				p.A78A		Atlas-SNP	.											.	DDC	100	.	0			c.C234T						PASS	.	G	,,,,,,	616,3788	259.5+/-263.1	36,544,1622	108	87	94		234,234,,234,,234,234	3.7	1	7	dbSNP_120	94	125,8475	63.1+/-125.2	0,125,4175	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous	DDC	NM_000790.3,NM_001082971.1,NM_001242886.1,NM_001242887.1,NM_001242888.1,NM_001242889.1,NM_001242890.1	,,,,,,	36,669,5797	AA,AG,GG		1.4535,13.9873,5.6982	,,,,,,	78/481,78/481,,78/433,,78/388,78/339	50607694	741,12263	2202	4300	6502	SO:0001819	synonymous_variant	1644	exon3			GAAGTAGGCGAAG		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.234C>T	7.37:g.50607694G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	177	70	0.39548	NM_001082971	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	CCDS5511.1	76	0.0347985347985348	57	0.11585365853658537	7	0.019337016574585635	0	0.0	12	0.0158311345646438	G	16.15	3.042691	0.55003	0.139873	0.014535	ENSG00000132437	ENST00000430300	.	.	.	5.5	3.66	0.41972	.	.	.	.	.	T	0.00784	0.0026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00103	-1.2060	4	.	.	.	-21.0922	11.6003	0.50999	0.1488:0.0:0.8512:0.0	rs11575302;rs11575302	.	.	.	L	44	.	.	P	-	2	0	DDC	50575188	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.849000	0.27723	1.284000	0.44531	0.655000	0.94253	CCT	G|0.948;A|0.052	0.052	strong		0.642	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50607694	G	A	50607694	2	1	22	1	0	0	0	0	0	0	0	1	4325	987	35	2		2	DDC	7	50607694	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139927	50607694	108530969	4187	9295										
GRB10	2887	hgsc.bcm.edu	37	chr7	50672017	50672017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgtttacctgtacttaGggtagaagggtggaggggac	16	7	0	1	rs200886440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:50672017G>A	ENST00000401949.1	-	16	1916	c.1447C>T	c.(1447-1449)Cta>Tta	p.L483L	GRB10_ENST00000357271.5_Silent_p.L437L|GRB10_ENST00000398812.2_Silent_p.L483L|GRB10_ENST00000398810.2_Silent_p.L425L|GRB10_ENST00000335866.3_Silent_p.L425L|GRB10_ENST00000402578.1_Silent_p.L425L|GRB10_ENST00000403097.1_Silent_p.L477L|GRB10_ENST00000439599.1_Silent_p.L477L|GRB10_ENST00000407526.1_Silent_p.L425L|GRB10_ENST00000402497.1_Silent_p.L425L|GRB10_ENST00000406641.1_Silent_p.L425L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	483					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCTGTACTTAGGGTAGAAGGG	0.493									Russell-Silver syndrome				G|||	3	0.000599042	0.0023	0.0	5008	,	,		21445	0.0		0.0	False		,,,				2504	0.0				p.L483L		Atlas-SNP	.											.	GRB10	155	.	0			c.C1447T						PASS	.	G	,,,	2,4002		0,2,2000	140	141	141		1309,1273,1273,1447	1.1	0.3	7		141	0,8338		0,0,4169	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB10	NM_001001549.2,NM_001001550.2,NM_001001555.2,NM_005311.4	,,,	0,2,6169	AA,AG,GG		0.0,0.05,0.0162	,,,	437/549,425/537,425/537,483/595	50672017	2,12340	2002	4169	6171	SO:0001819	synonymous_variant	2887	exon13	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	TACTTAGGGTAGA		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1447C>T	7.37:g.50672017G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	133	63	0.473684	NM_005311	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																			G|0.999;A|0.001	0.001	strong		0.493	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			A	50672017	G	A	50672017	2	1	22	1	0	0	0	0	0	0	0	1	6756	991	35	2		2	GRB10	7	50672017	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64323	50672017	108466646	4188	9296										
GRB10	2887	hgsc.bcm.edu	37	chr7	50742326	50742326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggatgcattcatatcgtTcaccagggcttccaggtcca	10	12	2	0	rs185094083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:50742326T>C	ENST00000401949.1	-	6	638	c.169A>G	c.(169-171)Aac>Gac	p.N57D	GRB10_ENST00000357271.5_Missense_Mutation_p.N57D|GRB10_ENST00000398812.2_Missense_Mutation_p.N57D|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000402578.1_5'UTR|GRB10_ENST00000403097.1_Missense_Mutation_p.N51D|GRB10_ENST00000439599.1_Missense_Mutation_p.N51D|GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000406641.1_5'UTR			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	57					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TTCATATCGTTCACCAGGGCT	0.522									Russell-Silver syndrome				T|||	14	0.00279553	0.0106	0.0	5008	,	,		21544	0.0		0.0	False		,,,				2504	0.0				p.N57D		Atlas-SNP	.											.	GRB10	155	.	0			c.A169G						PASS	.	T	ASP/ASN,,,ASP/ASN	21,4061		0,21,2020	57	59	59		169,,,169	4.5	1	7		59	1,8411		0,1,4205	yes	missense,utr-5,utr-5,missense	GRB10	NM_001001549.2,NM_001001550.2,NM_001001555.2,NM_005311.4	23,,,23	0,22,6225	CC,CT,TT		0.0119,0.5145,0.1761	probably-damaging,,,probably-damaging	57/549,,,57/595	50742326	22,12472	2041	4206	6247	SO:0001583	missense	2887	exon3	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	TATCGTTCACCAG		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.169A>G	7.37:g.50742326T>C	ENSP00000385770:p.Asn57Asp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_005311	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	CCDS43582.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	25.0	4.597321	0.87055	0.005145	1.19E-4	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000403097;ENST00000357271;ENST00000401949;ENST00000439044	D;D;D;D;D;T	0.87571	-1.97;-1.97;-1.97;-2.27;-1.97;-1.14	5.67	4.53	0.55603	.	0.083534	0.85682	N	0.000000	T	0.78194	0.4245	L	0.55481	1.735	0.80722	D	1	B;B;B	0.28933	0.228;0.027;0.074	B;B;B	0.24006	0.05;0.024;0.025	T	0.76653	-0.2880	10	0.37606	T	0.19	-25.4018	11.6266	0.51149	0.0:0.0693:0.0:0.9307	.	51;57;57	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	D	57;51;51;57;57;51	ENSP00000381793:N57D;ENSP00000406716:N51D;ENSP00000385544:N51D;ENSP00000349818:N57D;ENSP00000385770:N57D;ENSP00000413023:N51D	ENSP00000349818:N57D	N	-	1	0	GRB10	50709820	1.000000	0.71417	0.990000	0.47175	0.689000	0.40095	5.866000	0.69590	1.097000	0.41459	0.533000	0.62120	AAC	T|0.999;C|0.001	0.001	strong		0.522	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			C	50742326	T	C	50742326	3	2	22	1	0	0	0	0	1	0	0	0	6756	1783	62	2	1671	2	GRB10	7	50742326	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	70309	50742326	108396337	4189	9297										
COBL	23242	hgsc.bcm.edu	37	chr7	51096974	51096974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacggattccttttccgaCgtcatgggaagcggggtgca	13	11	1	0	rs2240090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:51096974C>T	ENST00000265136.7	-	10	1984	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	COBL_ENST00000395542.2_Missense_Mutation_p.V689I	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	607			V -> I (in dbSNP:rs2240090). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.		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)					CCTTTTCCGACGTCATGGGAA	0.542													T|||	3046	0.608227	0.6649	0.5937	5008	,	,		20187	0.4643		0.6938	False		,,,				2504	0.6022				p.V607I	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.G1819A						PASS	.	T	ILE/VAL	3043,1363	451.4+/-349.7	1044,955,204	83	76	78		1819	-11.6	0	7	dbSNP_98	78	5790,2810	444.6+/-360.7	1948,1894,458	yes	missense	COBL	NM_015198.3	29	2992,2849,662	TT,TC,CC		32.6744,30.9351,32.0852	benign	607/1262	51096974	8833,4173	2203	4300	6503	SO:0001583	missense	23242	exon10			TTCCGACGTCATG	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.1819G>A	7.37:g.51096974C>T	ENSP00000265136:p.Val607Ile	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	259	257	0.992278	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	1310|1310	0.5998168498168498|0.5998168498168498	320|320	0.6504065040650406|0.6504065040650406	219|219	0.6049723756906077|0.6049723756906077	253|253	0.4423076923076923|0.4423076923076923	518|518	0.683377308707124|0.683377308707124	T|T	0.536|0.536	-0.855524|-0.855524	0.02630|0.02630	0.690649|0.690649	0.673256|0.673256	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	.|T;T;T;T	.|0.22743	.|1.94;1.94;1.94;1.94	5.82|5.82	-11.6|-11.6	0.00059|0.00059	.|.	.|6.244210	.|0.00166	.|N	.|0.000002	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00926|0.00926	-1.1|-1.1	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B;B	.|0.06786	.|0.001;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.48547|0.48547	-0.9026|-0.9026	4|9	.|0.20519	.|T	.|0.43	.|.	6.3893|6.3893	0.21577|0.21577	0.1827:0.4105:0.3186:0.0882|0.1827:0.4105:0.3186:0.0882	rs2240090;rs10384224;rs17845884;rs17858859;rs60777538;rs2240090|rs2240090;rs10384224;rs17845884;rs17858859;rs60777538;rs2240090	.|607;664;607;689;149	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	H|I	582|607;499;492;689;105	.|ENSP00000265136:V607I;ENSP00000401204:V499I;ENSP00000413498:V492I;ENSP00000378912:V689I	.|ENSP00000265136:V607I	R|V	-|-	2|1	0|0	COBL|COBL	51064468|51064468	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.240000|-4.240000	0.00268|0.00268	-8.048000|-8.048000	0.00000|0.00000	-3.861000|-3.861000	0.00018|0.00018	CGT|GTC	C|0.360;T|0.640	0.640	strong		0.542	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		T	51096974	C	T	51096974	3	4	22	1	0	0	0	0	1	0	0	0	3653	536	19	1	1982	1	COBL	7	51096974	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	354648	51096974	108041689	4190	9298										
COBL	23242	hgsc.bcm.edu	37	chr7	51096992	51096992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtcatgggaagcggggtGcagggcaggtacttcctccc	16	11	1	0	rs61737866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:51096992G>A	ENST00000265136.7	-	10	1966	c.1801C>T	c.(1801-1803)Cac>Tac	p.H601Y	COBL_ENST00000395542.2_Missense_Mutation_p.H683Y	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	601				H -> Y (in Ref. 5; AAH45771). {ECO:0000305}.	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)					GAAGCGGGGTGCAGGGCAGGT	0.562													G|||	130	0.0259585	0.0976	0.0	5008	,	,		20023	0.0		0.001	False		,,,				2504	0.0				p.H601Y	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.C1801T						PASS	.	G	TYR/HIS	393,4013	196.4+/-220.7	22,349,1832	79	70	73		1801	-7	0	7	dbSNP_129	73	4,8596	3.0+/-9.4	0,4,4296	yes	missense	COBL	NM_015198.3	83	22,353,6128	AA,AG,GG		0.0465,8.9197,3.0524	benign	601/1262	51096992	397,12609	2203	4300	6503	SO:0001583	missense	23242	exon10			CGGGGTGCAGGGC	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.1801C>T	7.37:g.51096992G>A	ENSP00000265136:p.His601Tyr	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	249	112	0.449799	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	40|40	0.018315018315018316|0.018315018315018316	39|39	0.07926829268292683|0.07926829268292683	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.509|0.509	-0.867489|-0.867489	0.02590|0.02590	0.089197|0.089197	4.65E-4|4.65E-4	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	.|T;T;T;T	.|0.21734	.|1.99;1.99;1.99;1.99	5.59|5.59	-6.98|-6.98	0.01611|0.01611	.|.	.|2.903440	.|0.00947	.|N	.|0.002915	T|T	0.00271|0.00271	0.0008|0.0008	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.0;0.001	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.02654	.|T	.|1	.|.	11.0652|11.0652	0.47972|0.47972	0.6443:0.0913:0.2644:0.0|0.6443:0.0913:0.2644:0.0	.|.	.|601;658;601;683;143	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	V|Y	576|601;493;486;683;99	.|ENSP00000265136:H601Y;ENSP00000401204:H493Y;ENSP00000413498:H486Y;ENSP00000378912:H683Y	.|ENSP00000265136:H601Y	A|H	-|-	2|1	0|0	COBL|COBL	51064486|51064486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.066000|0.066000	0.14489|0.14489	-1.290000|-1.290000	0.02372|0.02372	-0.145000|-0.145000	0.13849|0.13849	GCA|CAC	G|0.974;A|0.026	0.026	strong		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51096992	G	A	51096992	3	1	22	1	0	0	0	0	1	0	0	0	3653	1319	46	2	2000	2	COBL	7	51096992	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	51096992	108041671	4191	9299										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103371	53103371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtcccccagccatgggcGctgcagctccggccgagtcc	13	18	0	0	rs72598684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:53103371G>T	ENST00000408890.4	+	1	23	c.7G>T	c.(7-9)Gct>Tct	p.A3S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	3										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCATGGGCGCTGCAGCTCC	0.706													G|||	1509	0.301318	0.1377	0.2334	5008	,	,		13585	0.4315		0.2833	False		,,,				2504	0.455				p.A3S		Atlas-SNP	.											.	POM121L12	146	.	0			c.G7T						PASS	.	G	SER/ALA	555,3451		48,459,1496	6	9	8		7	-0.3	0	7	dbSNP_130	8	1999,6175		239,1521,2327	no	missense	POM121L12	NM_182595.3	99	287,1980,3823	TT,TG,GG		24.4556,13.8542,20.9688	benign	3/297	53103371	2554,9626	2003	4087	6090	SO:0001583	missense	285877	exon1			ATGGGCGCTGCAG		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.7G>T	7.37:g.53103371G>T	ENSP00000386133:p.Ala3Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	70	42	0.6	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	624	0.2857142857142857	70	0.14227642276422764	94	0.2596685082872928	250	0.4370629370629371	210	0.2770448548812665	G	9.531	1.110853	0.20714	0.138542	0.244556	ENSG00000221900	ENST00000408890	T	0.29397	1.57	1.66	-0.285	0.12866	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.59357	0.985	P	0.55824	0.785	T	0.43637	-0.9379	8	0.41790	T	0.15	.	4.0677	0.09868	0.421:0.0:0.579:0.0	.	3	Q8N7R1	P1L12_HUMAN	S	3	ENSP00000386133:A3S	ENSP00000386133:A3S	A	+	1	0	POM121L12	53070865	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.106000	0.03319	-0.090000	0.12462	0.462000	0.41574	GCT	G|0.715;T|0.285	0.285	strong		0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103371	G	T	53103371	3	4	22	1	0	0	0	0	1	0	0	0	12241	1087	38	4	9	4	POM121L12	7	53103371	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2006379	53103371	106035292	4192	9300										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103382	53103382	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgggcgctgcagctccGgccgagtccgcagacctcgg	15	16	0	1	rs72598685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:53103382G>T	ENST00000408890.4	+	1	34	c.18G>T	c.(16-18)ccG>ccT	p.P6P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	6										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCAGCTCCGGCCGAGTCCG	0.701													G|||	1517	0.302915	0.1392	0.2349	5008	,	,		13789	0.4325		0.2853	False		,,,				2504	0.4571				p.P6P		Atlas-SNP	.											.	POM121L12	146	.	0			c.G18T						PASS	.	G		550,3462		41,468,1497	7	10	9		18	-2.9	0	7	dbSNP_130	9	2020,6212		248,1524,2344	no	coding-synonymous	POM121L12	NM_182595.3		289,1992,3841	TT,TG,GG		24.5384,13.7089,20.9899		6/297	53103382	2570,9674	2006	4116	6122	SO:0001819	synonymous_variant	285877	exon1			AGCTCCGGCCGAG		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.18G>T	7.37:g.53103382G>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	73	42	0.575342	NM_182595	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			G|0.718;T|0.282	0.282	strong		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103382	G	T	53103382	2	4	22	1	0	0	0	0	0	0	0	1	12241	1103	39	4		4	POM121L12	7	53103382	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	53103382	106035281	4193	9301										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103540	53103540	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcccctgaggtccctgaCtcagagccatattcagtact	9	14	2	3	rs78135827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:53103540C>G	ENST00000408890.4	+	1	192	c.176C>G	c.(175-177)aCt>aGt	p.T59S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	59										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGTCCCTGACTCAGAGCCAT	0.706													C|||	168	0.0335463	0.1248	0.0043	5008	,	,		12626	0.0		0.0	False		,,,				2504	0.0				p.T59S		Atlas-SNP	.											POM121L12,NS,carcinoma,0,1	POM121L12	146	1	0			c.C176G						PASS	.	C	SER/THR	438,3494		27,384,1555	29	35	33		176	-1.1	0	7	dbSNP_131	33	4,8306		0,4,4151	yes	missense	POM121L12	NM_182595.3	58	27,388,5706	GG,GC,CC		0.0481,11.1394,3.6105	probably-damaging	59/297	53103540	442,11800	1966	4155	6121	SO:0001583	missense	285877	exon1			CCCTGACTCAGAG		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.176C>G	7.37:g.53103540C>G	ENSP00000386133:p.Thr59Ser	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	74	0.03388278388278388	71	0.1443089430894309	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	C	0.374	-0.932216	0.02359	0.111394	4.81E-4	ENSG00000221900	ENST00000408890	T	0.22539	1.95	1.81	-1.11	0.09840	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B	0.16603	0.018	B	0.20767	0.031	T	0.41052	-0.9530	8	0.22109	T	0.4	.	2.491	0.04610	0.0:0.3885:0.2856:0.3259	.	59	Q8N7R1	P1L12_HUMAN	S	59	ENSP00000386133:T59S	ENSP00000386133:T59S	T	+	2	0	POM121L12	53071034	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.353000	0.20130	-0.287000	0.09064	0.313000	0.20887	ACT	C|0.965;G|0.035	0.035	strong		0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		G	53103540	C	G	53103540	3	3	22	1	0	0	0	0	1	0	0	0	12241	565	20	4	178	4	POM121L12	7	53103540	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	158	53103540	106035123	4194	9302										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53104078	53104078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccagggcctctgaagccGagcctcggcccctggagcct	14	16	1	1	rs72598686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:53104078G>A	ENST00000408890.4	+	1	730	c.714G>A	c.(712-714)ccG>ccA	p.P238P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTCTGAAGCCGAGCCTCGGCC	0.647													G|||	1659	0.33127	0.2209	0.2464	5008	,	,		12613	0.4315		0.2982	False		,,,				2504	0.4714				p.P238P		Atlas-SNP	.											POM121L12,NS,carcinoma,0,1	POM121L12	146	1	0			c.G714A						PASS	.	G		847,3087		94,659,1214	44	52	50		714	-3.7	0	7	dbSNP_130	50	2247,6031		281,1685,2173	no	coding-synonymous	POM121L12	NM_182595.3		375,2344,3387	AA,AG,GG		27.1442,21.5302,25.3357		238/297	53104078	3094,9118	1967	4139	6106	SO:0001819	synonymous_variant	285877	exon1			GAAGCCGAGCCTC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.714G>A	7.37:g.53104078G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	95	37	0.389474	NM_182595	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			G|0.706;A|0.294	0.294	strong		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53104078	G	A	53104078	2	1	22	1	0	0	0	0	0	0	0	1	12241	1045	37	1		1	POM121L12	7	53104078	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	538	53104078	106034585	4195	9303										
EGFR	1956	hgsc.bcm.edu	37	chr7	55238087	55238087	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatggcagcgtgtcccaCcagagcgggagcccagctgc	14	13	0	2	rs10258429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:55238087C>T	ENST00000275493.2	+	16	2057				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000344576.2_Silent_p.H656H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCGTGTCCCACCAGAGCGGGA	0.512		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C|||	563	0.11242	0.2398	0.049	5008	,	,		20745	0.0496		0.0736	False		,,,				2504	0.09				p.H656H		Atlas-SNP	.	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	.	EGFR	20426	.	0			c.C1968T						PASS	.	C	,	922,3484	352.1+/-311.5	101,720,1382	108	89	95		,1968	2.4	0	7	dbSNP_119	95	606,7994	158.6+/-212.1	23,560,3717	no	intron,coding-synonymous	EGFR	NM_005228.3,NM_201284.1	,	124,1280,5099	TT,TC,CC		7.0465,20.926,11.7484	,	,656/706	55238087	1528,11478	2203	4300	6503	SO:0001627	intron_variant	1956	exon16	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	GTCCCACCAGAGC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-781C>T	7.37:g.55238087C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	147	79	0.537415	NM_201284	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																			C|0.889;T|0.111	0.111	strong		0.512	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55238087	C	T	55238087	1	4	22	0	1	0	0	0	0	0	0	0	4967	506	18	2		2	EGFR	7	55238087	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2134009	55238087	103900576	4196	9304										
LANCL2	55915	hgsc.bcm.edu	37	chr7	55433880	55433880	+	Silent	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtgttcgtcccccggcGaccacggatgagcccggcct					rs2272262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:55433880G>C	ENST00000254770.2	+	1	740	c.162G>C	c.(160-162)gcG>gcC	p.A54A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	54					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTCCCCCGGCGACCACGGATG	0.726													C|||	1451	0.289736	0.4357	0.1988	5008	,	,		12860	0.1558		0.331	False		,,,				2504	0.2526				p.A54A		Atlas-SNP	.											.	LANCL2	54	.	0			c.G162C						PASS	.	C		1722,2634		395,932,851	8	11	10		162	1.4	0	7	dbSNP_100	10	2782,5752		515,1752,2000	no	coding-synonymous	LANCL2	NM_018697.3		910,2684,2851	CC,CG,GG		32.599,39.5317,34.9418		54/451	55433880	4504,8386	2178	4267	6445	SO:0001819	synonymous_variant	55915	exon1			CCCGGCGACCACG	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.162G>C	7.37:g.55433880G>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	39	38	0.974359	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	ENST00000254770.2	37	CCDS5517.1																																																																																			G|0.685;C|0.315	0.315	strong		0.726	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		C	55433880	G	C	55433880	2	2	22	1	0	0	0	0	0	0	0	1	8621	1045	37	4		4	LANCL2	7	55433880	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	195793	55433880	103704783	4197	9305	183	2								
LANCL2	55915	hgsc.bcm.edu	37	chr7	55433884	55433884	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttcgtcccccggcgaccAcggatgagcccggcctccct					rs2272263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:55433884A>C	ENST00000254770.2	+	1	744	c.166A>C	c.(166-168)Acg>Ccg	p.T56P		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	56			T -> P (in dbSNP:rs2272263). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.7}.		negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCCGGCGACCACGGATGAGCC	0.731													A|||	1029	0.205471	0.1437	0.1787	5008	,	,		12935	0.1567		0.325	False		,,,				2504	0.2352				p.T56P		Atlas-SNP	.											.	LANCL2	54	.	0			c.A166C						PASS	.	A	PRO/THR	674,3684		58,558,1563	8	11	10		166	-7.8	0	7	dbSNP_100	10	2547,5989		420,1707,2141	yes	missense	LANCL2	NM_018697.3	38	478,2265,3704	CC,CA,AA		29.8383,15.4658,24.9806	benign	56/451	55433884	3221,9673	2179	4268	6447	SO:0001583	missense	55915	exon1			GCGACCACGGATG	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.166A>C	7.37:g.55433884A>C	ENSP00000254770:p.Thr56Pro	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	39	9	0.230769	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	513	0.2348901098901099	70	0.14227642276422764	74	0.20441988950276244	110	0.19230769230769232	259	0.341688654353562	A	12.05	1.821845	0.32237	0.154658	0.298383	ENSG00000132434	ENST00000254770	T	0.31510	1.49	4.28	-7.8	0.01214	.	1.067980	0.07294	N	0.872988	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43782	-0.9370	9	0.30854	T	0.27	.	10.0708	0.42332	0.1673:0.297:0.5357:0.0	rs2272263;rs11546653	56	Q9NS86	LANC2_HUMAN	P	56	ENSP00000254770:T56P	ENSP00000254770:T56P	T	+	1	0	LANCL2	55401378	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.546000	0.02188	-1.519000	0.01775	-0.379000	0.06801	ACG	A|0.758;C|0.242	0.242	strong		0.731	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		C	55433884	A	C	55433884	3	2	22	1	0	0	0	0	1	0	0	0	8621	159	6	5	168	5	LANCL2	7	55433884	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	55433884	103704779	4198	9306	183	2								
PSPH	5723	hgsc.bcm.edu	37	chr7	56087423	56087423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccccgcccatggctcgccGtgtcctaggagggagaccca	13	16	0	1	rs79451216		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56087423G>A	ENST00000395471.3	-	5	950	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	PSPH_ENST00000275605.3_Missense_Mutation_p.R49W|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	49					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.R49W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGGCTCGCCGTGTCCTAGGA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		13539	0.0		0.001	False		,,,				2504	0.0				p.R49W		Atlas-SNP	.											PSPH,NS,lymphoid_neoplasm,0,1	PSPH	23	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C145T						scavenged	.						48	34	39					7																	56087423		2203	4300	6503	SO:0001583	missense	5723	exon5			CTCGCCGTGTCCT	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.145C>T	7.37:g.56087423G>A	ENSP00000378854:p.Arg49Trp	Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	46	6	0.130435	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112152	0.37242	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.82526	-1.62;-1.62;-1.62	4.5	3.6	0.41247	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Phosphoserine phosphatase, domain 2 (1);	0.186825	0.48767	D	0.000180	D	0.82346	0.5017	M	0.77486	2.375	0.80722	D	1	B;B	0.25235	0.106;0.121	B;B	0.21546	0.034;0.035	T	0.81686	-0.0820	10	0.87932	D	0	-7.1074	12.8694	0.57957	0.0:0.0:0.8358:0.1642	.	49;49	Q53EY1;P78330	.;SERB_HUMAN	W	49	ENSP00000275605:R49W;ENSP00000378854:R49W;ENSP00000398653:R49W	ENSP00000275605:R49W	R	-	1	2	PSPH	56054917	0.999000	0.42202	0.920000	0.36463	0.415000	0.31203	3.353000	0.52247	1.076000	0.40961	0.591000	0.81541	CGG	G|0.913;A|0.086	0.086	strong		0.602	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56087423	G	A	56087423	3	1	22	1	0	0	0	0	1	0	0	0	12717	1144	40	1	548	1	PSPH	7	56087423	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	653539	56087423	103051240	4199	9307										
PSPH	5723	hgsc.bcm.edu	37	chr7	56088786	56088786	+	Silent	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttctgacaccgcgtcctcAacgccacagattttggctag					rs202027697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56088786A>T	ENST00000395471.3	-	4	925	c.120T>A	c.(118-120)gtT>gtA	p.V40V	PSPH_ENST00000275605.3_Silent_p.V40V|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	40					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGCGTCCTCAACGCCACAGA	0.423																																					p.V40V		Atlas-SNP	.											.	PSPH	23	.	0			c.T120A						PASS	.						151	116	128					7																	56088786		2203	4300	6503	SO:0001819	synonymous_variant	5723	exon4			GTCCTCAACGCCA	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.120T>A	7.37:g.56088786A>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	228	66	0.289474	NM_004577	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																			A|0.749;T|0.251	0.251	strong		0.423	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		T	56088786	A	T	56088786	2	4	22	1	0	0	0	0	0	0	0	1	12717	117	5	5		5	PSPH	7	56088786	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1363	56088786	103049877	4200	9308	184	2								
PSPH	5723	hgsc.bcm.edu	37	chr7	56088789	56088789	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgacaccgcgtcctcaacGccacagattttggctagctc					rs199851385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56088789G>A	ENST00000395471.3	-	4	922	c.117C>T	c.(115-117)ggC>ggT	p.G39G	PSPH_ENST00000275605.3_Silent_p.G39G|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	39					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGTCCTCAACGCCACAGATTT	0.423																																					p.G39G		Atlas-SNP	.											.	PSPH	23	.	0			c.C117T						PASS	.						152	117	129					7																	56088789		2203	4300	6503	SO:0001819	synonymous_variant	5723	exon4			CTCAACGCCACAG	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.117C>T	7.37:g.56088789G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	231	67	0.290043	NM_004577	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																			G|0.750;A|0.250	0.250	strong		0.423	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56088789	G	A	56088789	2	1	22	1	0	0	0	0	0	0	0	1	12717	1074	38	1		1	PSPH	7	56088789	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	56088789	103049874	4201	9309	184	2								
PSPH	5723	hgsc.bcm.edu	37	chr7	56088811	56088811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagattttggctagctcaTcgattccttcttctctgatg	7	11	3	2	rs78599516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56088811T>C	ENST00000395471.3	-	4	900	c.95A>G	c.(94-96)gAt>gGt	p.D32G	PSPH_ENST00000275605.3_Missense_Mutation_p.D32G|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	32			D -> N (in PSPHD; dbSNP:rs28933976). {ECO:0000269|PubMed:14673469}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGCTAGCTCATCGATTCCTTC	0.448																																					p.D32G		Atlas-SNP	.											.	PSPH	23	.	0			c.A95G						PASS	.	T	GLY/ASP	1124,3282		0,1124,1079	142	108	120		95	4.4	1	7	dbSNP_132	120	256,8344		0,256,4044	yes	missense	PSPH	NM_004577.3	94	0,1380,5123	CC,CT,TT		2.9767,25.5107,10.6105	possibly-damaging	32/226	56088811	1380,11626	2203	4300	6503	SO:0001583	missense	5723	exon4			AGCTCATCGATTC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.95A>G	7.37:g.56088811T>C	ENSP00000378854:p.Asp32Gly	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	271	85	0.313653	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	708	0.3241758241758242	240	0.4878048780487805	97	0.26795580110497236	227	0.3968531468531469	144	0.18997361477572558	T	14.84	2.655594	0.47467	0.255107	0.029767	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-1.91;-1.91	5.6	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Phosphoserine phosphatase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.96269	3.795	0.80722	D	1	P;P	0.49185	0.92;0.846	D;D	0.65773	0.938;0.938	T	0.00000	-1.3334	10	0.87932	D	0	-27.8562	13.1471	0.59467	0.0:0.069:0.0:0.931	.	32;32	Q53EY1;P78330	.;SERB_HUMAN	G	32	ENSP00000275605:D32G;ENSP00000378854:D32G;ENSP00000398653:D32G;ENSP00000399660:D32G;ENSP00000390952:D32G	ENSP00000275605:D32G	D	-	2	0	PSPH	56056305	1.000000	0.71417	0.988000	0.46212	0.010000	0.07245	6.109000	0.71528	0.409000	0.25649	-1.431000	0.01090	GAT	T|0.746;C|0.254	0.254	strong		0.448	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		C	56088811	T	C	56088811	3	2	22	1	0	0	0	0	1	0	0	0	12717	1435	50	2	602	2	PSPH	7	56088811	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22	56088811	103049852	4202	9310										
PSPH	5723	hgsc.bcm.edu	37	chr7	56088825	56088825	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcatcgattccttcttcTctgatgaccgtgctgtcaac	7	13	4	2	rs74445297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56088825T>A	ENST00000395471.3	-	4	886	c.81A>T	c.(79-81)agA>agT	p.R27S	PSPH_ENST00000275605.3_Missense_Mutation_p.R27S|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	27					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCCTTCTTCTCTGATGACCG	0.448																																					p.R27S		Atlas-SNP	.											.	PSPH	23	.	0			c.A81T						PASS	.						133	99	110					7																	56088825		2203	4300	6503	SO:0001583	missense	5723	exon4			TTCTTCTCTGATG	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.81A>T	7.37:g.56088825T>A	ENSP00000378854:p.Arg27Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	291	84	0.28866	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	702	0.32142857142857145	240	0.4878048780487805	94	0.2596685082872928	224	0.3916083916083916	144	0.18997361477572558	T	8.101	0.776745	0.16120	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.83992	-1.58;-1.58;-1.58;-1.79;-1.79	5.6	0.722	0.18225	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.155391	0.64402	D	0.000020	T	0.00012	0.0000	L	0.48362	1.52	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.006;0.01	T	0.43327	-0.9398	10	0.27082	T	0.32	-15.084	8.7161	0.34411	0.0:0.4041:0.0:0.5959	.	27;27	Q53EY1;P78330	.;SERB_HUMAN	S	27	ENSP00000275605:R27S;ENSP00000378854:R27S;ENSP00000398653:R27S;ENSP00000399660:R27S;ENSP00000390952:R27S	ENSP00000275605:R27S	R	-	3	2	PSPH	56056319	0.997000	0.39634	0.998000	0.56505	0.198000	0.23893	0.542000	0.23222	0.108000	0.17862	0.482000	0.46254	AGA	T|0.752;A|0.248	0.248	strong		0.448	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56088825	T	A	56088825	3	1	22	1	0	0	0	0	1	0	0	0	12717	1548	54	5	616	5	PSPH	7	56088825	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	56088825	103049838	4203	9311										
PSPH	5723	hgsc.bcm.edu	37	chr7	56088902	56088902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcagctctgagtgggagaCcatcgctggaagaattttcc	11	11	2	3	rs77329757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56088902C>T	ENST00000395471.3	-	4	809	c.4G>A	c.(4-6)Gtc>Atc	p.V2I	PSPH_ENST00000275605.3_Missense_Mutation_p.V2I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	2				V -> I (in Ref. 1; CAA71318). {ECO:0000305}.	cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGTGGGAGACCATCGCTGGA	0.403																																					p.V2I		Atlas-SNP	.											PSPH,rectum,carcinoma,0,1	PSPH	23	1	0			c.G4A						PASS	.						59	49	53					7																	56088902		2203	4300	6503	SO:0001583	missense	5723	exon4			GGGAGACCATCGC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.4G>A	7.37:g.56088902C>T	ENSP00000378854:p.Val2Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	187	44	0.235294	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870338	0.33069	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596;ENST00000413218;ENST00000416592	D;D;D;T;T	0.82619	-1.63;-1.63;-1.63;-1.11;-1.11	5.5	4.62	0.57501	.	0.498508	0.22451	N	0.059892	T	0.76586	0.4008	L	0.43152	1.355	0.25991	N	0.982243	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.62821	-0.6773	10	0.26408	T	0.33	-18.3475	13.3091	0.60370	0.0:0.9237:0.0:0.0763	.	2;2	Q53EY1;P78330	.;SERB_HUMAN	I	2	ENSP00000275605:V2I;ENSP00000378854:V2I;ENSP00000398653:V2I;ENSP00000399660:V2I;ENSP00000390952:V2I	ENSP00000275605:V2I	V	-	1	0	PSPH	56056396	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.602000	0.36783	1.325000	0.45301	0.591000	0.81541	GTC	C|0.996;T|0.004	0.004	strong		0.403	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		T	56088902	C	T	56088902	3	4	22	1	0	0	0	0	1	0	0	0	12717	507	18	2	693	2	PSPH	7	56088902	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77	56088902	103049761	4204	9312										
SUMF2	25870	hgsc.bcm.edu	37	chr7	56140760	56140761	+	Frame_Shift_Del	DEL	TT	TT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctttgtctttgaggacTttgtctctgatgagctgaga					rs146946713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:56140760_56140761delTT	ENST00000413756.1	+	3	318_319	c.295_296delTT	c.(295-297)tttfs	p.F99fs	SUMF2_ENST00000395436.2_Frame_Shift_Del_p.F118fs|SUMF2_ENST00000437307.2_Frame_Shift_Del_p.F99fs|SUMF2_ENST00000275607.9_Frame_Shift_Del_p.F11fs|SUMF2_ENST00000342190.6_Frame_Shift_Del_p.F118fs|SUMF2_ENST00000434526.2_Frame_Shift_Del_p.F118fs|SUMF2_ENST00000395435.2_Frame_Shift_Del_p.F118fs			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	99					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTGAGGACTTTGTCTCTGAT	0.48														49	0.00978435	0.034	0.0058	5008	,	,		19873	0.0		0.0	False		,,,				2504	0.0				p.117_118del		Pindel,Atlas-Indel	.											.	SUMF2	56	.	0			c.351_352del						PASS	.		,,,,	133,4131		2,129,2001					,,,,	0.9	0.9		dbSNP_134	120	0,8254		0,0,4127	yes	frameshift,frameshift,frameshift,frameshift,frameshift	SUMF2	NM_015411.2,NM_001146333.1,NM_001130069.2,NM_001042470.1,NM_001042469.1	,,,,	2,129,6128	A1A1,A1R,RR		0.0,3.1191,1.0625	,,,,	,,,,		133,12385				SO:0001589	frameshift_variant	25870	exon3			.	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.295_296delTT	7.37:g.56140760_56140761delTT	ENSP00000406445:p.Phe99fs	Somatic	105	.	.		WXS	Illumina HiSeq	Phase_I	101	43	0.426	NM_001130069	B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Frame_Shift_Del	DEL	ENST00000413756.1	37																																																																																				TT|0.993;-|0.007	0.007	strong		0.48	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		-	56140761	TT	-	56140760	7	5	22	1	0	1	0	1	0	0	0	0	15383	1609	56	0	362	0	SUMF2	7	56140760	Frame_Shift_Del	DEL	TT	TCGA-G8-6324-01A-11D-2210-10	51858	56140760	102997903	4205	9313										
ZNF479	90827	hgsc.bcm.edu	37	chr7	57187997	57187997	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtagggtttctctccagtAtgaattctcctatgtctcat	8	9	3	1	rs146543279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:57187997A>T	ENST00000331162.4	-	5	1395	c.1125T>A	c.(1123-1125)caT>caA	p.H375Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	375					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCTCCAGTATGAATTCTCC	0.438													.|||	12	0.00239617	0.0091	0.0	5008	,	,		21893	0.0		0.0	False		,,,				2504	0.0				p.H375Q		Atlas-SNP	.											.	ZNF479	193	.	0			c.T1125A						PASS	.	A	GLN/HIS	39,4097		0,39,2029	42	43	43		1125	0.9	0	7	dbSNP_134	43	0,8454		0,0,4227	no	missense	ZNF479	NM_033273.1	24	0,39,6256	TT,TA,AA		0.0,0.9429,0.3098	probably-damaging	375/525	57187997	39,12551	2068	4227	6295	SO:0001583	missense	90827	exon5			TCCAGTATGAATT	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1125T>A	7.37:g.57187997A>T	ENSP00000333776:p.His375Gln	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	281	143	0.508897	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	a	11.55	1.671267	0.29693	0.009429	0.0	ENSG00000185177	ENST00000331162	T	0.66995	-0.24	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71685	0.3369	M	0.86268	2.805	0.24579	N	0.993888	D	0.55385	0.971	D	0.65773	0.938	T	0.62501	-0.6841	9	0.87932	D	0	.	2.9462	0.05847	0.6852:0.0:0.3148:0.0	.	375	Q96JC4	ZN479_HUMAN	Q	375	ENSP00000333776:H375Q	ENSP00000333776:H375Q	H	-	3	2	ZNF479	57191939	0.998000	0.40836	0.011000	0.14972	0.010000	0.07245	0.567000	0.23608	0.339000	0.23719	0.329000	0.21502	CAT	A|0.998;T|0.002	0.002	strong		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57187997	A	T	57187997	3	4	22	1	0	0	0	0	1	0	0	0	17930	446	16	5	453	5	ZNF479	7	57187997	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1047237	57187997	101950666	4206	9314										
ZNF679	168417	hgsc.bcm.edu	37	chr7	63721251	63721251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacttgatcacctgtctggAgcaaaataaagagccttgga	10	8	2	3	rs12154540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:63721251A>G	ENST00000421025.1	+	4	475	c.206A>G	c.(205-207)gAg>gGg	p.E69G	ZNF679_ENST00000255746.4_Missense_Mutation_p.E69G	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		E -> G (in dbSNP:rs12154540).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E69G(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACCTGTCTGGAGCAAAATAAA	0.383													.|||	992	0.198083	0.2511	0.2478	5008	,	,		15258	0.0099		0.2575	False		,,,				2504	0.2239				p.E69G		Atlas-SNP	.											ZNF679,NS,carcinoma,0,1	ZNF679	80	1	1	Substitution - Missense(1)	kidney(1)	c.A206G						PASS	.	A	GLY/GLU	333,1051		37,259,396	120	105	110		206	0.2	0.1	7	dbSNP_120	110	880,2302		106,668,817	no	missense	ZNF679	NM_153363.2	98	143,927,1213	GG,GA,AA		27.6556,24.0607,26.5659	benign	69/412	63721251	1213,3353	692	1591	2283	SO:0001583	missense	168417	exon4			GTCTGGAGCAAAA	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.206A>G	7.37:g.63721251A>G	ENSP00000416809:p.Glu69Gly	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	32	17	0.53125	NM_153363		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	416	0.19047619047619047	127	0.258130081300813	98	0.27071823204419887	3	0.005244755244755245	188	0.24802110817941952	A	5.271	0.235343	0.10023	0.240607	0.276556	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.01159	5.25;5.25	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.00012	0.0000	M	0.89353	3.025	0.80722	P	0.0	B	0.09022	0.002	B	0.09377	0.004	T	0.22591	-1.0212	7	0.72032	D	0.01	.	.	.	.	rs12154540;rs12154540	69	Q8IYX0	ZN679_HUMAN	G	69	ENSP00000416809:E69G;ENSP00000255746:E69G	ENSP00000255746:E69G	E	+	2	0	ZNF679	63358686	0.130000	0.22417	0.059000	0.19551	0.062000	0.15995	1.689000	0.37700	0.263000	0.21812	0.260000	0.18958	GAG	A|0.805;G|0.195	0.195	strong		0.383	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		G	63721251	A	G	63721251	3	3	22	1	0	0	0	0	1	0	0	0	18083	304	11	3	216	3	ZNF679	7	63721251	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6533254	63721251	95417412	4207	9315										
ZNF679	168417	hgsc.bcm.edu	37	chr7	63727210	63727210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcttgctaatcataagaGtatgcatactggagagaaac	9	6	2	2	rs142919190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:63727210G>A	ENST00000421025.1	+	5	1468	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N	ZNF679_ENST00000255746.4_Missense_Mutation_p.S400N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	400					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(3)|lung(11)|skin(1)|stomach(1)	18						AATCATAAGAGTATGCATACT	0.338													.|||	38	0.00758786	0.0287	0.0	5008	,	,		18314	0.0		0.0	False		,,,				2504	0.0				p.S400N		Atlas-SNP	.											ZNF679,NS,carcinoma,0,1	ZNF679	80	1	0			c.G1199A						PASS	.	G	ASN/SER	29,1355		0,29,663	26	25	25		1199	0.8	0.5	7	dbSNP_134	25	0,3182		0,0,1591	no	missense	ZNF679	NM_153363.2	46	0,29,2254	AA,AG,GG		0.0,2.0954,0.6351	benign	400/412	63727210	29,4537	692	1591	2283	SO:0001583	missense	168417	exon5			ATAAGAGTATGCA	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1199G>A	7.37:g.63727210G>A	ENSP00000416809:p.Ser400Asn	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	34	20	0.588235	NM_153363		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	11.97	1.796444	0.31777	0.020954	0.0	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.01139	5.28;5.28	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00496	0.0016	N	0.11818	0.18	0.21020	N	0.999808	B	0.25007	0.116	B	0.28011	0.085	T	0.49560	-0.8927	9	0.62326	D	0.03	.	6.9957	0.24780	0.0:0.0:1.0:0.0	.	400	Q8IYX0	ZN679_HUMAN	N	400	ENSP00000416809:S400N;ENSP00000255746:S400N	ENSP00000255746:S400N	S	+	2	0	ZNF679	63364645	0.000000	0.05858	0.476000	0.27291	0.477000	0.33069	-0.030000	0.12308	0.191000	0.20236	0.194000	0.17425	AGT	G|0.997;A|0.003	0.003	strong		0.338	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63727210	G	A	63727210	3	1	22	1	0	0	0	0	1	0	0	0	18083	1029	36	2	1213	2	ZNF679	7	63727210	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5959	63727210	95411453	4208	9316										
ZNF736	728927	hgsc.bcm.edu	37	chr7	63808867	63808867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtgaagaatgtggcaaagCgtttaaaaagttttcaaacc	9	5	1	2	rs11976837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:63808867C>A	ENST00000423484.2	+	4	748	c.626C>A	c.(625-627)gCg>gAg	p.A209E	ZNF736_ENST00000355095.4_Missense_Mutation_p.A209E			B4DX44	ZN736_HUMAN	zinc finger protein 736	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGTGGCAAAGCGTTTAAAAAG	0.363													c|||	1722	0.34385	0.5257	0.2824	5008	,	,		20536	0.3651		0.2873	False		,,,				2504	0.1779				p.A209E		Atlas-SNP	.											.	ZNF736	33	.	0			c.C626A						PASS	.	C	GLU/ALA	658,726		161,336,195	21	20	20		626	1.1	0	7	dbSNP_120	20	906,2274		121,664,805	no	missense	ZNF736	NM_001170905.1	107	282,1000,1000	AA,AC,CC		28.4906,47.5434,34.2682	probably-damaging	209/428	63808867	1564,3000	692	1590	2282	SO:0001583	missense	728927	exon5			GCAAAGCGTTTAA		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.626C>A	7.37:g.63808867C>A	ENSP00000400852:p.Ala209Glu	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	22	10	0.454545	NM_001170905		Missense_Mutation	SNP	ENST00000423484.2	37	CCDS55114.1	778	0.35622710622710624	230	0.46747967479674796	107	0.2955801104972376	220	0.38461538461538464	221	0.29155672823219	C	12.34	1.908165	0.33721	0.475434	0.284906	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.00840	5.63;5.63	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.56199	1.76	0.80722	P	0.0	D	0.69078	0.997	P	0.62435	0.902	T	0.49051	-0.8979	8	0.87932	D	0	.	5.1222	0.14865	0.0:0.6209:0.3791:0.0	rs11976837;rs57515600;rs11976837	209	B4DX44	ZN736_HUMAN	E	209	ENSP00000347210:A209E;ENSP00000400852:A209E	ENSP00000347210:A209E	A	+	2	0	ZNF736	63446302	0.000000	0.05858	0.003000	0.11579	0.119000	0.20118	-0.368000	0.07543	0.555000	0.29079	0.305000	0.20034	GCG	.	.	weak		0.363	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		A	63808867	C	A	63808867	3	1	22	1	0	0	0	0	1	0	0	0	18122	768	27	4	640	4	ZNF736	7	63808867	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81657	63808867	95329796	4209	9317										
ZNF107	51427	hgsc.bcm.edu	37	chr7	64168641	64168641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcctcaacccttaatagAcataagataattcatactgg	5	10	2	2	rs73363327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:64168641A>G	ENST00000395391.1	+	4	3334	c.1959A>G	c.(1957-1959)agA>agG	p.R653R	ZNF107_ENST00000423627.1_Silent_p.R653R|ZNF107_ENST00000344930.3_Silent_p.R653R			Q9UII5	ZN107_HUMAN	zinc finger protein 107	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCCTTAATAGACATAAGATAA	0.363													a|||	131	0.0261581	0.0983	0.0014	5008	,	,		18481	0.0		0.0	False		,,,				2504	0.0				p.R653R		Atlas-SNP	.											.	ZNF107	107	.	0			c.A1959G						PASS	.	A	,	297,4075		9,279,1898	30	34	33		1959,1959	-0.3	0.1	7	dbSNP_131	33	3,8583		0,3,4290	no	coding-synonymous,coding-synonymous	ZNF107	NM_001013746.1,NM_016220.3	,	9,282,6188	GG,GA,AA		0.0349,6.7932,2.3152	,	653/784,653/784	64168641	300,12658	2186	4293	6479	SO:0001819	synonymous_variant	51427	exon7			TAATAGACATAAG	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1959A>G	7.37:g.64168641A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	25	9	0.36	NM_016220		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																			A|0.985;G|0.015	0.015	strong		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		G	64168641	A	G	64168641	2	3	22	1	0	0	0	0	0	0	0	1	17712	272	10	2		2	ZNF107	7	64168641	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	359774	64168641	94970022	4210	9318										
ZNF107	51427	hgsc.bcm.edu	37	chr7	64169017	64169018	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaaccctacaaatgtgINSagtatggcaaaacttaattg					rs376059343|rs375319415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:64169017_64169018insA	ENST00000395391.1	+	4	3710_3711	c.2335_2336insA	c.(2335-2337)gagfs	p.E779fs	ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.E779fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.E779fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTACAAATGTGAGTATGGCAAA	0.351													?|A|AA|unsure	47	0.00938498	0.0348	0.0	5008	,	,		19143	0.001		0.0	False		,,,				2504	0.0				p.E779fs		Atlas-Indel	.											.	ZNF107	107	.	0			c.2335_2336insA						PASS	.																																			SO:0001589	frameshift_variant	51427	exon7			.	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2336dupA	7.37:g.64169018_64169018dupA	ENSP00000378789:p.Glu779fs	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	44	15	0.340909	NM_016220		Frame_Shift_Ins	INS	ENST00000395391.1	37	CCDS5527.1																																																																																			.	.	weak		0.351	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		A	64169018	-	A	64169017	7	5	22	1	0	1	1	0	0	0	0	0	17712	1291	45	0	2341	0	ZNF107	7	64169017	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	376	64169017	94969646	4211	9319	185	2								
ZNF107	51427	hgsc.bcm.edu	37	chr7	64169019	64169020	+	Frame_Shift_Ins	INS	-	-	AA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaccctacaaatgtgagINStatggcaaaacttaattgat					rs201020174|rs376059343|rs4717205|rs77413930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:64169019_64169020insAA	ENST00000395391.1	+	4	3712_3713	c.2337_2338insAA	c.(2338-2340)tatfs	p.Y780fs	ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.Y780fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.Y780fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAGTATGGCAAAAC	0.351																																					p.E779fs		Atlas-Indel	.											.	ZNF107	107	.	0			c.2337_2338insAA						PASS	.		,	1052,3200		165,722,1239					,	0.4	0			28	80,8168		0,80,4044	no	frameshift,frameshift	ZNF107	NM_016220.3,NM_001013746.1	,	165,802,5283	A1A1,A1R,RR		0.9699,24.7413,9.056	,	,		1132,11368				SO:0001589	frameshift_variant	51427	exon7			.	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		Exception_encountered	7.37:g.64169019_64169020insAA	ENSP00000378789:p.Tyr780fs	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	41	13	0.317073	NM_016220		Frame_Shift_Ins	INS	ENST00000395391.1	37	CCDS5527.1																																																																																			-|0.838;AA|0.162	0.162	strong		0.351	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		AA	64169020	-	AA	64169019	7	5	22	1	0	1	1	0	0	0	0	0	17712	1020	36	0	2343	0	ZNF107	7	64169019	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	2	64169019	94969644	4212	9320	185	2								
ASL	435	hgsc.bcm.edu	37	chr7	65551782	65551782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctgctggaggtgcggaaGcggatcaatgtcctgcccct	15	12	1	0	rs115468878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:65551782G>A	ENST00000304874.9	+	8	678	c.576G>A	c.(574-576)aaG>aaA	p.K192K	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000380839.4_Intron|ASL_ENST00000395332.3_Silent_p.K192K|ASL_ENST00000395331.3_Silent_p.K192K	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	192					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	AGGTGCGGAAGCGGATCAATG	0.687													g|||	29	0.00579073	0.0212	0.0014	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0				p.K192K		Atlas-SNP	.											.	ASL	39	.	0			c.G576A						PASS	.	A	,,,	95,4307		1,93,2107	27	28	28		576,576,576,	1.8	1	7	dbSNP_132	28	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ASL	NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1	,,,	1,93,6399	AA,AG,GG		0.0,2.1581,0.7316	,,,	192/465,192/465,192/445,	65551782	95,12891	2201	4292	6493	SO:0001819	synonymous_variant	435	exon8			GCGGAAGCGGATC		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.576G>A	7.37:g.65551782G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	74	35	0.472973	NM_000048	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	CCDS5531.1																																																																																			G|0.993;A|0.007	0.007	strong		0.687	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		A	65551782	G	A	65551782	2	1	22	1	0	0	0	0	0	0	0	1	1044	962	34	2		2	ASL	7	65551782	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1382763	65551782	93586881	4213	9321										
KCTD7	154881	hgsc.bcm.edu	37	chr7	66094184	66094184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcacgcgctgcccctgCtgccacaggaggtacccggg	16	16	0	0	rs587780370		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:66094184C>T	ENST00000275532.3	+	1	317	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	KCTD7_ENST00000443322.1_Silent_p.L45L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	45					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCTGCCCCTGCTGCCACAGGA	0.776																																					p.L45L		Atlas-SNP	.											KCTD7,brain,glioma,-2,1	KCTD7	26	1	0			c.C133T						scavenged	.																																			SO:0001819	synonymous_variant	154881	exon1			CCCCTGCTGCCAC	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.133C>T	7.37:g.66094184C>T		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	8	5	0.625	NM_001167961	A4D2M4|Q8IVR0	Silent	SNP	ENST00000275532.3	37	CCDS5534.1																																																																																			.	.	none		0.776	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		T	66094184	C	T	66094184	2	4	22	1	0	0	0	0	0	0	0	1	8114	796	28	2		2	KCTD7	7	66094184	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	542402	66094184	93044479	4214	9322										
TYW1	55253	hgsc.bcm.edu	37	chr7	66648157	66648157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgctcgtgaaagcatggaaCgtggacgagctccaggccta	13	11	0	1	rs4145350	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:66648157C>T	ENST00000359626.5	+	14	1907	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	581					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAGCATGGAACGTGGACGAGC	0.527																																					p.N581N		Atlas-SNP	.											.	TYW1	71	.	0			c.C1743T						PASS	.	C		1517,2889		140,1237,826	93	69	77		1743	-4.6	1	7	dbSNP_110	77	2010,6590		167,1676,2457	no	coding-synonymous	TYW1	NM_018264.2		307,2913,3283	TT,TC,CC		23.3721,34.4303,27.1183		581/733	66648157	3527,9479	2203	4300	6503	SO:0001819	synonymous_variant	55253	exon14			ATGGAACGTGGAC	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1743C>T	7.37:g.66648157C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	40	0.300752	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			C|0.778;T|0.222	0.222	strong		0.527	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66648157	C	T	66648157	2	4	22	1	0	0	0	0	0	0	0	1	16815	535	19	1		1	TYW1	7	66648157	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	553973	66648157	92490506	4215	9323										
TYW1	55253	hgsc.bcm.edu	37	chr7	66648199	66648199	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcagctcgtgtccctgggGaatcctgacttcatcgaagt	12	12	1	1	rs55756354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:66648199G>A	ENST00000359626.5	+	14	1949	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	595					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCCCTGGGGAATCCTGACT	0.537																																					p.G595G		Atlas-SNP	.											.	TYW1	71	.	0			c.G1785A						PASS	.	G		1246,3160		124,998,1081	59	45	50		1785	0.6	0.1	7	dbSNP_129	50	1785,6805		158,1469,2668	no	coding-synonymous	TYW1	NM_018264.2		282,2467,3749	AA,AG,GG		20.78,28.2796,23.3226		595/733	66648199	3031,9965	2203	4295	6498	SO:0001819	synonymous_variant	55253	exon14			CCTGGGGAATCCT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1785G>A	7.37:g.66648199G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	127	44	0.346457	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			.	.	weak		0.537	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66648199	G	A	66648199	2	1	22	1	0	0	0	0	0	0	0	1	16815	1161	41	2		2	TYW1	7	66648199	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42	66648199	92490464	4216	9324										
TYW1	55253	hgsc.bcm.edu	37	chr7	66660242	66660242	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtggtacagtttgtccAcgagttggtggatctgatcc					rs2949097		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:66660242A>G	ENST00000359626.5	+	15	2059	c.1895A>G	c.(1894-1896)cAc>cGc	p.H632R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	632			H -> R (in dbSNP:rs2949097). {ECO:0000269|PubMed:14702039}.		tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.H632R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGTTTGTCCACGAGTTGGTG	0.473																																					p.H632R		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - Missense(1)	stomach(1)	c.A1895G						PASS	.						143	147	146					7																	66660242		2201	4298	6499	SO:0001583	missense	55253	exon15			TTGTCCACGAGTT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1895A>G	7.37:g.66660242A>G	ENSP00000352645:p.His632Arg	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	138	33	0.23913	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	423	0.1936813186813187	166	0.33739837398373984	76	0.20994475138121546	42	0.07342657342657342	139	0.18337730870712401	G	0.041	-1.284326	0.01398	.	.	ENSG00000198874	ENST00000359626	T	0.39592	1.07	3.7	-1.73	0.08081	tRNA wybutosine-synthesis (1);	0.536026	0.18649	N	0.135065	T	0.00012	0.0000	N	0.00332	-1.63	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46176	-0.9210	9	0.22706	T	0.39	.	10.5776	0.45235	0.6569:0.0:0.3431:0.0	rs2949097;rs3210780	632	Q9NV66	TYW1_HUMAN	R	632	ENSP00000352645:H632R	ENSP00000352645:H632R	H	+	2	0	TYW1	66297677	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.026000	0.13599	-0.771000	0.04608	-1.185000	0.01705	CAC	A|0.500;G|0.500	0.500	weak		0.473	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		G	66660242	A	G	66660242	3	3	22	1	0	0	0	0	1	0	0	0	16815	159	6	2	1953	2	TYW1	7	66660242	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12043	66660242	92478421	4217	9325	186	2								
TYW1	55253	hgsc.bcm.edu	37	chr7	66660247	66660247	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtacagtttgtccacgagTtggtggatctgatccccgaa					rs55673383		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:66660247T>C	ENST00000359626.5	+	15	2064	c.1900T>C	c.(1900-1902)Ttg>Ctg	p.L634L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	634					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L634L(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCCACGAGTTGGTGGATCT	0.478																																					p.L634L		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - coding silent(1)	stomach(1)	c.T1900C						scavenged	.						147	152	150					7																	66660247		2203	4299	6502	SO:0001819	synonymous_variant	55253	exon15			CACGAGTTGGTGG	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1900T>C	7.37:g.66660247T>C		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	138	37	0.268116	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			T|0.500;C|0.500	0.500	weak		0.478	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		C	66660247	T	C	66660247	2	2	22	1	0	0	0	0	0	0	0	1	16815	1722	60	2		2	TYW1	7	66660247	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	66660247	92478416	4218	9326	186	2								
NSUN5	55695	hgsc.bcm.edu	37	chr7	72717686	72717686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaggcagtgctcggcaccCgggaacgtgctcaggcctcg	16	14	1	0	rs145622470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:72717686C>T	ENST00000252594.6	-	9	1212	c.1197G>A	c.(1195-1197)ccG>ccA	p.P399P	NSUN5_ENST00000438747.2_Silent_p.P399P|NSUN5_ENST00000310326.8_Silent_p.P399P|NSUN5_ENST00000428206.1_Silent_p.P361P			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	399					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCTCGGCACCCGGGAACGTGC	0.642													.|||	35	0.00698882	0.025	0.0029	5008	,	,		16592	0.0		0.0	False		,,,				2504	0.0				p.P399P		Atlas-SNP	.											.	NSUN5	47	.	0			c.G1197A						PASS	.	C	,,,	92,4314		0,92,2111	49	48	48		1197,1083,1197,1197	-4.7	0	7	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	,,,	0,92,6411	TT,TC,CC		0.0,2.0881,0.7074	,,,	399/471,361/392,399/430,399/467	72717686	92,12914	2203	4300	6503	SO:0001819	synonymous_variant	55695	exon9			GGCACCCGGGAAC	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1197G>A	7.37:g.72717686C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	131	70	0.534351	NM_148956	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	CCDS5547.1																																																																																			C|0.993;T|0.007	0.007	strong		0.642	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		T	72717686	C	T	72717686	2	4	22	1	0	0	0	0	0	0	0	1	10681	639	23	1		1	NSUN5	7	72717686	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6057439	72717686	86420977	4219	9327										
NSUN5	55695	hgsc.bcm.edu	37	chr7	72719048	72719048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagctccggcatcaaggGgtccaggagaaaatgcttcc	12	12	1	1	rs34913552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:72719048G>A	ENST00000252594.6	-	5	562	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	NSUN5_ENST00000310326.8_Missense_Mutation_p.P183S|NSUN5_ENST00000438747.2_Missense_Mutation_p.P183S|NSUN5_ENST00000428206.1_Missense_Mutation_p.P145S			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	183			P -> S (in dbSNP:rs34913552).		rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GGCATCAAGGGGTCCAGGAGA	0.567													g|||	189	0.0377396	0.1377	0.0101	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0				p.P183S		Atlas-SNP	.											.	NSUN5	47	.	0			c.C547T						PASS	.	A	SER/PRO,SER/PRO,SER/PRO,SER/PRO	445,3961	174.4+/-204.0	16,413,1774	19	20	20		547,433,547,547	-2.3	0.1	7	dbSNP_126	20	1,8579		0,1,4289	no	missense,missense,missense,missense	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	74,74,74,74	16,414,6063	AA,AG,GG		0.0117,10.0999,3.4345	benign,benign,benign,benign	183/471,145/392,183/430,183/467	72719048	446,12540	2203	4290	6493	SO:0001583	missense	55695	exon5			TCAAGGGGTCCAG	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.547C>T	7.37:g.72719048G>A	ENSP00000252594:p.Pro183Ser	Somatic	568	0	0		WXS	Illumina HiSeq	Phase_I	496	155	0.3125	NM_148956	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	CCDS5547.1	70	0.03205128205128205	59	0.11991869918699187	4	0.011049723756906077	3	0.005244755244755245	4	0.005277044854881266	g	0.011	-1.725772	0.00694	0.100999	1.17E-4	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.31	-2.31	0.06765	.	0.500976	0.23395	N	0.048648	T	0.00144	0.0004	M	0.69463	2.115	0.09310	N	1	B;B;B;B	0.23185	0.002;0.066;0.081;0.017	B;B;B;B	0.20384	0.01;0.029;0.021;0.018	T	0.42189	-0.9466	10	0.13853	T	0.58	.	7.9291	0.29891	0.3346:0.1027:0.5626:0.0	rs34913552	183;145;183;183	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	S	145;183;183;183	ENSP00000393081:P145S;ENSP00000252594:P183S;ENSP00000388464:P183S;ENSP00000309126:P183S	ENSP00000252594:P183S	P	-	1	0	NSUN5	72356984	0.893000	0.30496	0.076000	0.20297	0.032000	0.12392	0.935000	0.28924	-0.731000	0.04862	-1.478000	0.00992	CCC	G|0.971;A|0.029	0.029	strong		0.567	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		A	72719048	G	A	72719048	3	1	22	1	0	0	0	0	1	0	0	0	10681	1232	43	2	898	2	NSUN5	7	72719048	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1362	72719048	86419615	4220	9328										
MLXIPL	51085	hgsc.bcm.edu	37	chr7	73020328	73020328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggacaaaaagcaattgagGtccaggagctgccgcccacc	11	13	0	1	rs34922362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73020328G>T	ENST00000313375.3	-	6	779	c.732C>A	c.(730-732)gaC>gaA	p.D244E	MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D244E|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D244E|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D244E	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	244			D -> E (in dbSNP:rs34922362).		anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCAATTGAGGTCCAGGAGCT	0.637													G|||	110	0.0219649	0.0825	0.0014	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.0				p.D244E		Atlas-SNP	.											.	MLXIPL	54	.	0			c.C732A						PASS	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	239,4165		6,227,1969	33	32	32		732,732,732,732	1.8	1	7	dbSNP_126	32	0,8594		0,0,4297	yes	missense,missense,missense,missense	MLXIPL	NM_032951.2,NM_032952.2,NM_032953.2,NM_032954.2	45,45,45,45	6,227,6266	TT,TG,GG		0.0,5.4269,1.8387	benign,benign,benign,benign	244/853,244/834,244/851,244/832	73020328	239,12759	2202	4297	6499	SO:0001583	missense	51085	exon6			ATTGAGGTCCAGG	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.732C>A	7.37:g.73020328G>T	ENSP00000320886:p.Asp244Glu	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_032954	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	47	0.02152014652014652	46	0.09349593495934959	1	0.0027624309392265192	0	0.0	0	0.0	G	13.57	2.277764	0.40294	0.054269	0.0	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000456640	T;T;T;T;T	0.59364	1.81;1.85;1.82;1.83;0.27	3.68	1.79	0.24919	.	0.068000	0.56097	D	0.000024	T	0.03305	0.0096	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.54207	0.941;0.965;0.965;0.965	B;P;P;P	0.47015	0.333;0.534;0.534;0.534	T	0.01432	-1.1356	10	0.87932	D	0	-11.5469	5.3046	0.15797	0.2859:0.0:0.7141:0.0	rs34922362	244;244;244;244	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	E	244;244;244;244;206	ENSP00000412330:D244E;ENSP00000406296:D244E;ENSP00000320886:D244E;ENSP00000346629:D244E;ENSP00000402615:D206E	ENSP00000320886:D244E	D	-	3	2	MLXIPL	72658264	1.000000	0.71417	0.986000	0.45419	0.877000	0.50540	2.652000	0.46682	0.221000	0.20879	0.313000	0.20887	GAC	G|0.978;T|0.022	0.022	strong		0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		T	73020328	G	T	73020328	3	4	22	1	0	0	0	0	1	0	0	0	9637	1252	44	4	1874	4	MLXIPL	7	73020328	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	301280	73020328	86118335	4221	9329										
DNAJC30	84277	hgsc.bcm.edu	37	chr7	73097720	73097720	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaacctccaaggtaacaGccgctgccaccatcgccagc	8	18	0	0	rs113424906|rs28494095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73097720G>C	ENST00000395176.2	-	1	63	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_Intron	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	12						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						CAAGGTAACAGCCGCTGCCAC	0.597													G|||	480	0.0958466	0.171	0.1239	5008	,	,		13737	0.0198		0.0785	False		,,,				2504	0.0706				p.L12V		Atlas-SNP	.											.	DNAJC30	12	.	0			c.C34G						PASS	.	G	VAL/LEU	652,3630		56,540,1545	29	36	33		34	-9.1	0	7	dbSNP_125	33	593,7767		25,543,3612	yes	missense	DNAJC30	NM_032317.2	32	81,1083,5157	CC,CG,GG		7.0933,15.2265,9.8481	benign	12/227	73097720	1245,11397	2141	4180	6321	SO:0001583	missense	84277	exon1			GTAACAGCCGCTG	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.34C>G	7.37:g.73097720G>C	ENSP00000378605:p.Leu12Val	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_032317	Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	CCDS5556.1	190	0.08699633699633699	74	0.15040650406504066	42	0.11602209944751381	11	0.019230769230769232	63	0.08311345646437995	G	13.10	2.135786	0.37728	0.152265	0.070933	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.59224	0.28	4.96	-9.05	0.00730	.	2.390160	0.03370	N	0.198845	T	0.00210	0.0006	N	0.24115	0.695	0.58432	P	4.000000000004E-6	B	0.09022	0.002	B	0.10450	0.005	T	0.02208	-1.1195	9	0.35671	T	0.21	-0.2085	3.7048	0.08397	0.5398:0.2013:0.1573:0.1016	rs28494095	12	Q96LL9	DJC30_HUMAN	V	12;9	ENSP00000378605:L12V	ENSP00000378605:L12V	L	-	1	2	DNAJC30	72735656	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.088000	0.03379	-2.087000	0.00862	-0.345000	0.07892	CTG	G|0.897;C|0.103	0.103	strong		0.597	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			C	73097720	G	C	73097720	3	2	22	1	0	0	0	0	1	0	0	0	4648	962	34	4	650	4	DNAJC30	7	73097720	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77392	73097720	86040943	4222	9330										
STX1A	6804	hgsc.bcm.edu	37	chr7	73122923	73122923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccccacacactcactctcAtcggggttgggggatgccag	12	15	2	0	rs2228607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73122923A>G	ENST00000222812.3	-	3	230	c.204T>C	c.(202-204)gaT>gaC	p.D68D	STX1A_ENST00000395155.3_Silent_p.D68D|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395154.3_Silent_p.D68D|STX1A_ENST00000395156.3_Silent_p.D68D	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	68					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACTCACTCTCATCGGGGTTGG	0.632													A|||	2289	0.457069	0.5008	0.3948	5008	,	,		15594	0.4067		0.5596	False		,,,				2504	0.3885				p.D68D		Atlas-SNP	.											.	STX1A	16	.	0			c.T204C	GRCh37	CM014827	STX1A	M	rs2228607	PASS	.	A	,	2228,2178	586.6+/-386.5	564,1100,539	85	62	70		204,204	-6.4	0.9	7	dbSNP_98	70	4870,3730	610.7+/-395.7	1398,2074,828	no	coding-synonymous,coding-synonymous	STX1A	NM_001165903.1,NM_004603.3	,	1962,3174,1367	GG,GA,AA		43.3721,49.4326,45.4252	,	68/252,68/289	73122923	7098,5908	2203	4300	6503	SO:0001819	synonymous_variant	6804	exon3			ACTCTCATCGGGG		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.204T>C	7.37:g.73122923A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	110	41	0.372727	NM_004603	O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Silent	SNP	ENST00000222812.3	37	CCDS34655.1																																																																																			A|0.473;G|0.527	0.527	strong		0.632	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		G	73122923	A	G	73122923	2	3	22	1	0	0	0	0	0	0	0	1	15342	214	8	2		2	STX1A	7	73122923	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25203	73122923	86015740	4223	9331										
ABHD11	83451	hgsc.bcm.edu	37	chr7	73151643	73151643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggccctcatggctgccaCataggttgcaaagtgggaga	14	9	1	1	rs61745525|rs386714666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73151643C>T	ENST00000222800.3	-	4	610	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ABHD11_ENST00000437775.2_Missense_Mutation_p.V174M|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Intron|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000468998.1_5'Flank	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	181						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATGGCTGCCACATAGGTTGCA	0.557													C|||	228	0.0455272	0.1649	0.0144	5008	,	,		21333	0.0		0.0	False		,,,				2504	0.0				p.V181M		Atlas-SNP	.											.	ABHD11	11	.	0			c.G541A						PASS	.	C	,MET/VAL,MET/VAL	436,3970		29,378,1796	89	73	79		,541,520	-9.2	0	7	dbSNP_129	79	3,8597		0,3,4297	yes	intron,missense,missense	ABHD11	NM_001145364.1,NM_148912.2,NM_148913.2	,21,21	29,381,6093	TT,TC,CC		0.0349,9.8956,3.3754	,benign,benign	,181/316,174/309	73151643	439,12567	2203	4300	6503	SO:0001583	missense	83451	exon4			CTGCCACATAGGT	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.541G>A	7.37:g.73151643C>T	ENSP00000222800:p.Val181Met	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_148912	H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	CCDS5558.1	73	0.033424908424908424	67	0.13617886178861788	6	0.016574585635359115	0	0.0	0	0.0	C	6.139	0.393893	0.11638	0.098956	3.49E-4	ENSG00000106077	ENST00000437775;ENST00000222800	T;T	0.68479	-0.33;-0.33	4.62	-9.25	0.00666	.	0.399068	0.28388	N	0.015523	T	0.00328	0.0010	L	0.31578	0.945	0.09310	P	0.99999999628235	B;B	0.18310	0.027;0.017	B;B	0.19666	0.015;0.026	T	0.01456	-1.1350	9	0.36615	T	0.2	-0.2939	3.1353	0.06437	0.2531:0.453:0.1175:0.1763	.	174;181	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	M	174;181	ENSP00000416970:V174M;ENSP00000222800:V181M	ENSP00000222800:V181M	V	-	1	0	ABHD11	72789579	0.406000	0.25344	0.004000	0.12327	0.014000	0.08584	-0.283000	0.08433	-1.427000	0.01992	-0.367000	0.07326	GTG	C|0.963;T|0.037	0.037	strong		0.557	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			T	73151643	C	T	73151643	3	4	22	1	0	0	0	0	1	0	0	0	75	478	17	2	418	2	ABHD11	7	73151643	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28720	73151643	85987020	4224	9332										
WBSCR27	155368	hgsc.bcm.edu	37	chr7	73249092	73249092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacttcctcaacctgggtCgccttccactttcggtacag	7	16	2	0	rs73369956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73249092C>T	ENST00000297873.4	-	6	768	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	240										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAACCTGGGTCGCCTTCCACT	0.632													C|||	173	0.0345447	0.1263	0.0072	5008	,	,		17029	0.0		0.001	False		,,,				2504	0.0				p.R240Q		Atlas-SNP	.											.	WBSCR27	21	.	0			c.G719A						PASS	.	C	GLN/ARG	448,3958	210.2+/-230.7	22,404,1777	47	43	44		719	-4.9	0	7	dbSNP_130	44	2,8598	2.2+/-6.3	0,2,4298	yes	missense	WBSCR27	NM_152559.2	43	22,406,6075	TT,TC,CC		0.0233,10.168,3.4599	benign	240/246	73249092	450,12556	2203	4300	6503	SO:0001583	missense	155368	exon6			CTGGGTCGCCTTC	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.719G>A	7.37:g.73249092C>T	ENSP00000297873:p.Arg240Gln	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_152559		Missense_Mutation	SNP	ENST00000297873.4	37	CCDS5561.1	61	0.027930402930402932	58	0.11788617886178862	3	0.008287292817679558	0	0.0	0	0.0	C	9.306	1.054385	0.19907	0.10168	2.33E-4	ENSG00000165171	ENST00000297873	T	0.36520	1.25	4.67	-4.88	0.03113	.	0.739448	0.13097	N	0.414080	T	0.00144	0.0004	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.25398	-1.0133	10	0.19147	T	0.46	-0.2142	2.1565	0.03814	0.1345:0.2371:0.1332:0.4952	.	240	Q8N6F8	WBS27_HUMAN	Q	240	ENSP00000297873:R240Q	ENSP00000297873:R240Q	R	-	2	0	WBSCR27	72887028	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.365000	0.00496	-0.582000	0.05929	0.549000	0.68633	CGA	C|0.962;T|0.038	0.038	strong		0.632	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		T	73249092	C	T	73249092	3	4	22	1	0	0	0	0	1	0	0	0	17263	884	31	1	22	1	WBSCR27	7	73249092	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97449	73249092	85889571	4225	9333										
WBSCR27	155368	hgsc.bcm.edu	37	chr7	73254871	73254871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctggaggaagcctggAgcccgcagctggggtagggg	20	9	0	0	rs61741292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73254871A>G	ENST00000297873.4	-	4	310	c.261T>C	c.(259-261)gcT>gcC	p.A87A		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	87										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGAAGCCTGGAGCCCGCAGCT	0.672													A|||	173	0.0345447	0.1263	0.0072	5008	,	,		14138	0.0		0.001	False		,,,				2504	0.0				p.A87A		Atlas-SNP	.											.	WBSCR27	21	.	0			c.T261C						PASS	.	A		341,3999		14,313,1843	14	17	16		261	-0.2	1	7	dbSNP_129	16	2,8534		0,2,4266	no	coding-synonymous	WBSCR27	NM_152559.2		14,315,6109	GG,GA,AA		0.0234,7.8571,2.6639		87/246	73254871	343,12533	2170	4268	6438	SO:0001819	synonymous_variant	155368	exon4			GCCTGGAGCCCGC	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.261T>C	7.37:g.73254871A>G		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_152559		Silent	SNP	ENST00000297873.4	37	CCDS5561.1																																																																																			A|0.974;G|0.026	0.026	strong		0.672	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		G	73254871	A	G	73254871	2	3	22	1	0	0	0	0	0	0	0	1	17263	291	11	3		3	WBSCR27	7	73254871	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5779	73254871	85883792	4226	9334										
WBSCR28	135886	hgsc.bcm.edu	37	chr7	73279361	73279361	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctctataatttcctgctCctcaagatcaacctcttcaa	2	15	5	1	rs61742124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73279361C>T	ENST00000320531.2	+	2	147	c.111C>T	c.(109-111)ctC>ctT	p.L37L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	37						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ATTTCCTGCTCCTCAAGATCA	0.582													C|||	1049	0.209465	0.3268	0.219	5008	,	,		16536	0.0784		0.2028	False		,,,				2504	0.1861				p.L37L		Atlas-SNP	.											.	WBSCR28	24	.	0			c.C111T						PASS	.	C		1004,2802		144,716,1043	263	271	269		111	-6.3	0.8	7	dbSNP_129	269	1622,6604		168,1286,2659	no	coding-synonymous	WBSCR28	NM_182504.3		312,2002,3702	TT,TC,CC		19.718,26.3794,21.8251		37/266	73279361	2626,9406	1903	4113	6016	SO:0001819	synonymous_variant	135886	exon2			CCTGCTCCTCAAG	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.111C>T	7.37:g.73279361C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	217	91	0.419355	NM_182504	Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	CCDS43597.1																																																																																			C|0.789;T|0.211	0.211	strong		0.582	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		T	73279361	C	T	73279361	2	4	22	1	0	0	0	0	0	0	0	1	17264	842	30	2		2	WBSCR28	7	73279361	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24490	73279361	85859302	4227	9335										
GTF2IRD1	9569	hgsc.bcm.edu	37	chr7	73932560	73932560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgtgcaggggctgcccgaAggcctggccttccgaaggcc	16	15	0	0	rs17851629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:73932560A>G	ENST00000265755.3	+	5	906	c.513A>G	c.(511-513)gaA>gaG	p.E171E	GTF2IRD1_ENST00000424337.2_Silent_p.E171E|GTF2IRD1_ENST00000476977.1_Silent_p.E171E|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.E203E	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	171					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGCCCGAAGGCCTGGCCT	0.662													G|||	1186	0.236821	0.4682	0.196	5008	,	,		14985	0.0952		0.16	False		,,,				2504	0.1779				p.E203E		Atlas-SNP	.											.	GTF2IRD1	91	.	0			c.A609G						PASS	.	G	,,	1791,2611		358,1075,768	24	24	24		609,513,513	1.6	1	7	dbSNP_123	24	1707,6893		165,1377,2758	no	coding-synonymous,coding-synonymous,coding-synonymous	GTF2IRD1	NM_001199207.1,NM_005685.3,NM_016328.2	,,	523,2452,3526	GG,GA,AA		19.8488,40.6861,26.9036	,,	203/977,171/945,171/960	73932560	3498,9504	2201	4300	6501	SO:0001819	synonymous_variant	9569	exon5			GCCCGAAGGCCTG	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.513A>G	7.37:g.73932560A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_001199207	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	CCDS5571.1																																																																																			A|0.744;G|0.256	0.256	strong		0.662	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		G	73932560	A	G	73932560	2	3	22	1	0	0	0	0	0	0	0	1	6868	69	3	3		3	GTF2IRD1	7	73932560	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	653199	73932560	85206103	4228	9336										
NCF1	653361	hgsc.bcm.edu	37	chr7	74193672	74193672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttaccgagtactgcggcaCgctcatgagcctgcccacca	9	16	1	1	rs146125534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:74193672C>T	ENST00000289473.4	+	4	369	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	100	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	TACTGCGGCACGCTCATGAGC	0.627																																					p.T100M		Atlas-SNP	.											NCF1,NS,carcinoma,0,1	NCF1	26	1	0			c.C299T						scavenged	.	C	MET/THR	9,4363		0,9,2177	30	17	21		299	2.4	0.2	7	dbSNP_134	21	30,8460		0,30,4215	no	missense	NCF1	NM_000265.4	81	0,39,6392	TT,TC,CC		0.3534,0.2059,0.3032	probably-damaging	100/391	74193672	39,12823	2186	4245	6431	SO:0001583	missense	653361	exon4			GCGGCACGCTCAT	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.299C>T	7.37:g.74193672C>T	ENSP00000289473:p.Thr100Met	Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	367	61	0.166213	NM_000265	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	c	7.503	0.653151	0.14580	0.002059	0.003534	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.39406	1.08;1.08;1.08	3.38	2.44	0.29823	Phox homologous domain (5);	1.232380	0.05605	N	0.577140	T	0.44953	0.1318	L	0.47716	1.5	0.24195	N	0.995534	P;D	0.67145	0.933;0.996	B;P	0.46320	0.097;0.512	T	0.42548	-0.9445	10	0.66056	D	0.02	-0.3076	11.343	0.49543	0.0:0.8052:0.1948:0.0	.	100;100	P14598-2;P14598	.;NCF1_HUMAN	M	100;100;74;107	ENSP00000289473:T100M;ENSP00000392870:T100M;ENSP00000401935:T107M	ENSP00000289473:T100M	T	+	2	0	NCF1	73831608	0.006000	0.16342	0.168000	0.22838	0.186000	0.23388	2.266000	0.43320	0.507000	0.28148	0.442000	0.29010	ACG	C|0.999;T|0.001	0.001	strong		0.627	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		T	74193672	C	T	74193672	3	4	22	1	0	0	0	0	1	0	0	0	10216	536	19	1	313	1	NCF1	7	74193672	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	261112	74193672	84944991	4229	9337										
NCF1	653361	hgsc.bcm.edu	37	chr7	74193718	74193718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccgctgtccccacctcctCgacttcttcaaggtgcgccc	7	20	2	0	rs17356100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:74193718C>T	ENST00000289473.4	+	4	415	c.345C>T	c.(343-345)ctC>ctT	p.L115L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L115L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CCCACCTCCTCGACTTCTTCA	0.637																																					p.L115L		Atlas-SNP	.											NCF1,NS,carcinoma,0,1	NCF1	26	1	1	Substitution - coding silent(1)	endometrium(1)	c.C345T						scavenged	.																																			SO:0001819	synonymous_variant	653361	exon4			CCTCCTCGACTTC	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.345C>T	7.37:g.74193718C>T		Somatic	396	0	0		WXS	Illumina HiSeq	Phase_I	362	76	0.209945	NM_000265	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																			C|0.500;T|0.500	0.500	weak		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		T	74193718	C	T	74193718	2	4	22	1	0	0	0	0	0	0	0	1	10216	871	31	1		1	NCF1	7	74193718	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46	74193718	84944945	4230	9338										
HIP1	3092	hgsc.bcm.edu	37	chr7	75211414	75211414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttcacgtcactttctccAgcctcgtccagctggcggtc	9	15	3	0	rs237238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75211414A>G	ENST00000336926.6	-	6	545	c.519T>C	c.(517-519)gcT>gcC	p.A173A	RN7SL642P_ENST00000581382.1_RNA|HIP1_ENST00000434438.2_Silent_p.A173A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	173					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CACTTTCTCCAGCCTCGTCCA	0.552			T	PDGFRB	CMML								A|||	488	0.0974441	0.1074	0.0793	5008	,	,		19934	0.0754		0.0795	False		,,,				2504	0.138				p.A173A		Atlas-SNP	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	HIP1,NS,carcinoma,-1,1	HIP1	91	1	0			c.T519C						PASS	.	A		411,3995	203.5+/-225.9	24,363,1816	92	69	77	http://www.ncbi.nlm.nih.gov/pubmed?term	519	-10.8	0.7	7	dbSNP_79	77	621,7979	161.4+/-214.4	26,569,3705	no	coding-synonymous	HIP1	NM_005338.5		50,932,5521	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	7.2209,9.3282,7.9348		173/1038	75211414	1032,11974	2203	4300	6503	SO:0001819	synonymous_variant	3092	exon6			TTCTCCAGCCTCG	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.519T>C	7.37:g.75211414A>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																			A|0.912;G|0.088	0.088	strong		0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		G	75211414	A	G	75211414	2	3	22	1	0	0	0	0	0	0	0	1	7114	175	7	3		3	HIP1	7	75211414	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1017696	75211414	83927249	4231	9339										
HIP1	3092	hgsc.bcm.edu	37	chr7	75221693	75221693	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccccaggaactcacgttCgggtgtccatctcggaggag	13	12	2	0	rs144446822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75221693C>T	ENST00000336926.6	-	3	350	c.324G>A	c.(322-324)ccG>ccA	p.P108P	HIP1_ENST00000434438.2_Silent_p.P108P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	108	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AACTCACGTTCGGGTGTCCAT	0.597			T	PDGFRB	CMML								C|||	6	0.00119808	0.0045	0.0	5008	,	,		20231	0.0		0.0	False		,,,				2504	0.0				p.P108P		Atlas-SNP	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	HIP1	91	.	0			c.G324A						PASS	.	C		15,4391	22.3+/-47.3	0,15,2188	59	50	53		324	-11.6	0	7	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	HIP1	NM_005338.5		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		108/1038	75221693	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	3092	exon3			CACGTTCGGGTGT	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.324G>A	7.37:g.75221693C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	35	0.648148	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																			C|0.999;T|0.001	0.001	strong		0.597	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75221693	C	T	75221693	2	4	22	1	0	0	0	0	0	0	0	1	7114	871	31	1		1	HIP1	7	75221693	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10279	75221693	83916970	4232	9340										
CCL24	6369	hgsc.bcm.edu	37	chr7	75442730	75442730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgcagcagggagaggggaTgaccacagagcctagaagag	16	8	0	5	rs2302006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75442730T>G	ENST00000416943.1	-	3	178	c.85A>C	c.(85-87)Atc>Ctc	p.I29L	CCL24_ENST00000222902.2_Missense_Mutation_p.I29L	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	29			I -> L (in dbSNP:rs2302006). {ECO:0000269|PubMed:14702039}.		cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GGAGAGGGGATGACCACAGAG	0.562													T|||	1733	0.346046	0.2685	0.4063	5008	,	,		17705	0.5595		0.1839	False		,,,				2504	0.3548				p.I29L		Atlas-SNP	.											.	CCL24	11	.	0			c.A85C						PASS	.	T	LEU/ILE	1230,3176		173,884,1146	69	72	71		85	-0.4	0	7	dbSNP_100	71	1725,6875		170,1385,2745	yes	missense	CCL24	NM_002991.2	5	343,2269,3891	GG,GT,TT		20.0581,27.9165,22.7203	benign	29/120	75442730	2955,10051	2203	4300	6503	SO:0001583	missense	6369	exon2			AGGGGATGACCAC	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.85A>C	7.37:g.75442730T>G	ENSP00000400533:p.Ile29Leu	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	51	35	0.686275	NM_002991	B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	CCDS34670.1	739	0.3383699633699634	141	0.2865853658536585	125	0.3453038674033149	325	0.5681818181818182	148	0.19525065963060687	.	6.304	0.424243	0.11928	0.279165	0.200581	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03689	3.84;3.84	3.61	-0.408	0.12381	Chemokine interleukin-8-like domain (1);	1.308000	0.05150	N	0.495911	T	0.00012	0.0000	L	0.37800	1.135	0.80722	P	0.0	B	0.11235	0.004	B	0.14023	0.01	T	0.35895	-0.9770	9	0.16420	T	0.52	.	9.5265	0.39167	0.0:0.0:0.5652:0.4348	rs2302006;rs11465292;rs60968338;rs2302006	29	O00175	CCL24_HUMAN	L	29	ENSP00000222902:I29L;ENSP00000400533:I29L	ENSP00000222902:I29L	I	-	1	0	CCL24	75280666	0.696000	0.27757	0.004000	0.12327	0.004000	0.04260	0.260000	0.18424	-0.058000	0.13177	-0.291000	0.09656	ATC	T|0.714;G|0.286	0.286	strong		0.562	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		G	75442730	T	G	75442730	3	3	22	1	0	0	0	0	1	0	0	0	2896	1464	51	5	280	5	CCL24	7	75442730	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	221037	75442730	83695933	4233	9341										
POR	5447	hgsc.bcm.edu	37	chr7	75583325	75583325	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtttcatgatcaacatgggAgactcccacgtggacaccag	10	11	2	2	rs10262966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75583325A>G	ENST00000461988.1	+	2	120	c.15A>G	c.(13-15)ggA>ggG	p.G5G	POR_ENST00000419840.1_5'UTR|POR_ENST00000394893.1_Silent_p.G5G	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	2					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TCAACATGGGAGACTCCCACG	0.552													G|||	524	0.104633	0.3011	0.0303	5008	,	,		20069	0.005		0.005	False		,,,				2504	0.0971				p.G5G		Atlas-SNP	.											.	POR	46	.	0			c.A15G						PASS	.	G		982,3060		130,722,1169	77	75	75		15	3.4	0.9	7	dbSNP_119	75	37,8319		0,37,4141	no	coding-synonymous	POR	NM_000941.2		130,759,5310	GG,GA,AA		0.4428,24.2949,8.2191		5/681	75583325	1019,11379	2021	4178	6199	SO:0001819	synonymous_variant	5447	exon2			CATGGGAGACTCC	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.15A>G	7.37:g.75583325A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	116	46	0.396552	NM_000941	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																			A|0.934;G|0.066	0.066	strong		0.552	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		G	75583325	A	G	75583325	2	3	22	1	0	0	0	0	0	0	0	1	12257	291	11	3		3	POR	7	75583325	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	140595	75583325	83555338	4234	9342										
POR	5447	hgsc.bcm.edu	37	chr7	75615006	75615006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcgggccaaggagcctgCcggggagaacggcggccgtg	20	12	0	1	rs1057868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75615006C>T	ENST00000461988.1	+	13	1613	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	POR_ENST00000419840.1_Missense_Mutation_p.A317V|POR_ENST00000394893.1_Missense_Mutation_p.A503V|POR_ENST00000439269.1_Missense_Mutation_p.A241V|POR_ENST00000545601.1_Missense_Mutation_p.A311V|POR_ENST00000450476.1_Missense_Mutation_p.A402V|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	500	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	AAGGAGCCTGCCGGGGAGAAC	0.657													C|||	1433	0.286142	0.1702	0.2795	5008	,	,		15499	0.374		0.2952	False		,,,				2504	0.3476				p.A503V		Atlas-SNP	.											.	POR	46	.	0			c.C1508T	GRCh37	CM057356	POR	M	rs1057868	PASS	.	C	VAL/ALA	698,3446		75,548,1449	12	16	14		1508	3.5	0	7	dbSNP_86	14	2247,6049		309,1629,2210	yes	missense	POR	NM_000941.2	64	384,2177,3659	TT,TC,CC		27.0853,16.8436,23.6736	benign	503/681	75615006	2945,9495	2072	4148	6220	SO:0001583	missense	5447	exon13			AGCCTGCCGGGGA	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1508C>T	7.37:g.75615006C>T	ENSP00000419970:p.Ala503Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	93	52	0.55914	NM_000941	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	628	0.2875457875457875	68	0.13821138211382114	106	0.292817679558011	223	0.38986013986013984	231	0.30474934036939316	C	7.739	0.700936	0.15172	0.168436	0.270853	ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	4.4	3.51	0.40186	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.267846	0.35903	N	0.002907	T	0.00012	0.0000	N	0.13235	0.315	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17167	-1.0378	9	0.29301	T	0.29	-1.5153	8.3965	0.32559	0.0:0.8905:0.0:0.1095	rs1057868;rs3198400;rs17840495;rs17846082;rs17859083;rs57699079	500;402;311;509	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	V	503;317;503;311;402;241	ENSP00000419970:A503V;ENSP00000414244:A317V;ENSP00000378355:A503V;ENSP00000446149:A311V;ENSP00000416572:A402V;ENSP00000412490:A241V	ENSP00000378355:A503V	A	+	2	0	POR	75452942	0.033000	0.19621	0.003000	0.11579	0.158000	0.22134	0.907000	0.28531	1.188000	0.43014	0.561000	0.74099	GCC	C|0.723;T|0.277	0.277	strong		0.657	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		T	75615006	C	T	75615006	3	4	22	1	0	0	0	0	1	0	0	0	12257	739	26	2	1554	2	POR	7	75615006	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31681	75615006	83523657	4235	9343										
MDH2	4191	hgsc.bcm.edu	37	chr7	75677504	75677504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccgccctcgcccggcctgCcagcgctgctctccgccgca	10	23	1	0	rs6720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75677504C>T	ENST00000315758.5	+	1	120	c.26C>T	c.(25-27)gCc>gTc	p.A9V	STYXL1_ENST00000248600.1_5'Flank|STYXL1_ENST00000360591.3_5'Flank|STYXL1_ENST00000451157.1_5'Flank|STYXL1_ENST00000431581.1_5'Flank|STYXL1_ENST00000460184.2_5'Flank|STYXL1_ENST00000359697.3_5'Flank|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000461263.2_Missense_Mutation_p.A9V|MDH2_ENST00000443006.1_5'UTR|MDH2_ENST00000432020.2_Missense_Mutation_p.A9V|STYXL1_ENST00000340062.5_5'Flank	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	9			A -> V (in dbSNP:rs17849553). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GCCCGGCCTGCCAGCGCTGCT	0.741													c|||	2615	0.522165	0.7073	0.4164	5008	,	,		14327	0.6071		0.327	False		,,,				2504	0.4601				p.A9V		Atlas-SNP	.											MDH2,NS,carcinoma,0,1	MDH2	35	1	0			c.C26T						PASS	.	C	VAL/ALA	2410,1644		759,892,376	9	7	8		26	0.6	0	7	dbSNP_123	8	2255,5607		413,1429,2089	no	missense	MDH2	NM_005918.2	64	1172,2321,2465	TT,TC,CC		28.6823,40.5525,39.149	benign	9/339	75677504	4665,7251	2027	3931	5958	SO:0001583	missense	4191	exon1			GGCCTGCCAGCGC		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.26C>T	7.37:g.75677504C>T	ENSP00000327070:p.Ala9Val	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	24	16	0.666667	NM_005918	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	1104	0.5054945054945055	353	0.717479674796748	147	0.40607734806629836	356	0.6223776223776224	248	0.32717678100263853	C	15.67	2.903178	0.52333	0.594475	0.286823	ENSG00000146701	ENST00000315758;ENST00000432020	T;T	0.41758	0.99;0.99	5.57	0.558	0.17266	.	0.307415	0.35262	N	0.003322	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34054	-0.9844	9	0.25751	T	0.34	-8.1463	9.0275	0.36239	0.0:0.6206:0.0:0.3794	rs6720	9;9	E9PDB2;P40926	.;MDHM_HUMAN	V	9	ENSP00000327070:A9V;ENSP00000408649:A9V	ENSP00000327070:A9V	A	+	2	0	MDH2	75515440	0.001000	0.12720	0.004000	0.12327	0.754000	0.42855	0.356000	0.20181	0.047000	0.15862	0.650000	0.86243	GCC	C|0.494;T|0.506	0.506	strong		0.741	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			T	75677504	C	T	75677504	3	4	22	1	0	0	0	0	1	0	0	0	9410	739	26	2	28	2	MDH2	7	75677504	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62498	75677504	83461159	4236	9344										
MDH2	4191	hgsc.bcm.edu	37	chr7	75684273	75684273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgcgcacacacccggagtGgccgcagatctgagccacat	11	15	1	2	rs77424348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:75684273G>A	ENST00000315758.5	+	2	286	c.192G>A	c.(190-192)gtG>gtA	p.V64V	MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Silent_p.V64V	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	64					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CACCCGGAGTGGCCGCAGATC	0.612													g|||	28	0.00559105	0.0204	0.0014	5008	,	,		14182	0.0		0.0	False		,,,				2504	0.0				p.V64V		Atlas-SNP	.											.	MDH2	35	.	0			c.G192A						PASS	.	G		112,4294	86.8+/-125.4	3,106,2094	77	78	78		192	2.3	1	7	dbSNP_132	78	1,8599		0,1,4299	no	coding-synonymous	MDH2	NM_005918.2		3,107,6393	AA,AG,GG		0.0116,2.542,0.8688		64/339	75684273	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	4191	exon2			CGGAGTGGCCGCA		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.192G>A	7.37:g.75684273G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	77	54	0.701299	NM_005918	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	37	CCDS5581.1																																																																																			G|0.984;A|0.016	0.016	strong		0.612	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			A	75684273	G	A	75684273	2	1	22	1	0	0	0	0	0	0	0	1	9410	1335	47	2		2	MDH2	7	75684273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6769	75684273	83454390	4237	9345										
DTX2	113878	hgsc.bcm.edu	37	chr7	76109877	76109877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgtacaccagccccgcGgctgtggccgtgtgggaatg	16	12	0	0	rs149301449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:76109877G>A	ENST00000324432.5	+	4	561	c.51G>A	c.(49-51)gcG>gcA	p.A17A	DTX2_ENST00000446600.1_Intron|DTX2_ENST00000446820.2_Silent_p.A17A|DTX2_ENST00000413936.2_Silent_p.A17A|DTX2_ENST00000430490.2_Silent_p.A17A|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000307569.8_Silent_p.A17A	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	17	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCAGCCCCGCGGCTGTGGCCG	0.642													.|||	15	0.00299521	0.0083	0.0014	5008	,	,		18307	0.003		0.0	False		,,,				2504	0.0				p.A17A		Atlas-SNP	.											.	DTX2	64	.	0			c.G51A						PASS	.	G	,,,	16,4390		0,16,2187	28	29	29		51,51,51,51	4.2	1	7	dbSNP_134	29	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTX2	NM_001102594.1,NM_001102595.1,NM_001102596.1,NM_020892.2	,,,	0,16,6483	AA,AG,GG		0.0,0.3631,0.1231	,,,	17/623,17/623,17/576,17/623	76109877	16,12982	2203	4296	6499	SO:0001819	synonymous_variant	113878	exon1			CCCCGCGGCTGTG		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.51G>A	7.37:g.76109877G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	238	135	0.567227	NM_001102596	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																			G|0.997;A|0.003	0.003	strong		0.642	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			A	76109877	G	A	76109877	2	1	22	1	0	0	0	0	0	0	0	1	4794	1103	39	1		1	DTX2	7	76109877	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	425604	76109877	83028786	4238	9346										
DTX2	113878	hgsc.bcm.edu	37	chr7	76132805	76132805	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagacggggacccagccCcagggaaagatggaggtatt	16	8	0	3	rs73703182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:76132805C>G	ENST00000324432.5	+	10	1962	c.1452C>G	c.(1450-1452)ccC>ccG	p.P484P	DTX2_ENST00000413936.2_Silent_p.P484P|DTX2_ENST00000446600.1_Silent_p.P393P|DTX2_ENST00000446820.2_Silent_p.P437P|DTX2_ENST00000307569.8_Silent_p.P437P|DTX2_ENST00000430490.2_Silent_p.P484P	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	484					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGACCCAGCCCCAGGGAAAGA	0.572													.|||	88	0.0175719	0.0651	0.0029	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.0				p.P484P		Atlas-SNP	.											.	DTX2	64	.	0			c.C1452G						PASS	.	C	,,,	241,4159		11,219,1970	70	66	67		1452,1452,1311,1452	3	1	7	dbSNP_130	67	2,8592		0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTX2	NM_001102594.1,NM_001102595.1,NM_001102596.1,NM_020892.2	,,,	11,221,6265	GG,GC,CC		0.0233,5.4773,1.8701	,,,	484/623,484/623,437/576,484/623	76132805	243,12751	2200	4297	6497	SO:0001819	synonymous_variant	113878	exon9			CCAGCCCCAGGGA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1452C>G	7.37:g.76132805C>G		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	173	95	0.549133	NM_001102594	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																			C|0.977;G|0.023	0.023	strong		0.572	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			G	76132805	C	G	76132805	2	3	22	1	0	0	0	0	0	0	0	1	4794	610	22	4		4	DTX2	7	76132805	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22928	76132805	83005858	4239	9347										
POMZP3	22932	hgsc.bcm.edu	37	chr7	76240877	76240877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctttgttacagcattgacAgatgtcagccaggccttcca	8	12	1	2	rs73365247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:76240877A>T	ENST00000310842.4	-	6	1153	c.469T>A	c.(469-471)Tgt>Agt	p.C157S	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	157										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CAGCATTGACAGATGTCAGCC	0.517													a|||	295	0.0589058	0.2148	0.0144	5008	,	,		18707	0.001		0.0	False		,,,				2504	0.0				p.C157S		Atlas-SNP	.											.	POMZP3	19	.	0			c.T469A						PASS	.	A	SER/CYS,	887,3517		137,613,1452	74	76	75		469,	0.8	0.8	7	dbSNP_130	75	16,8566		1,14,4276	no	missense,intron	POMZP3	NM_012230.3,NM_152992.2	112,	138,627,5728	TT,TA,AA		0.1864,20.1408,6.9536	probably-damaging,	157/188,	76240877	903,12083	2202	4291	6493	SO:0001583	missense	22932	exon6			ATTGACAGATGTC	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.469T>A	7.37:g.76240877A>T	ENSP00000309233:p.Cys157Ser	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	284	110	0.387324	NM_012230	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	CCDS43606.1	143|143	0.06547619047619048|0.06547619047619048	138|138	0.2804878048780488|0.2804878048780488	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	N|N	17.67|17.67	3.447194|3.447194	0.63178|0.63178	0.201408|0.201408	0.001864|0.001864	ENSG00000146707|ENSG00000146707	ENST00000310842|ENST00000441393	T|.	0.65732|.	-0.17|.	0.786|0.786	0.786|0.786	0.18590|0.18590	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.88310|0.88310	2.945|2.945	0.09310|0.09310	P|P	0.9999947731|0.9999947731	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.04650|0.04650	-1.0936|-1.0936	9|4	0.87932|.	D|.	0|.	.|.	3.9669|3.9669	0.09436|0.09436	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	157|.	Q6PJE2|.	POZP3_HUMAN|.	S|Q	157|93	ENSP00000309233:C157S|.	ENSP00000309233:C157S|.	C|L	-|-	1|2	0|0	POMZP3|POMZP3	76078813|76078813	1.000000|1.000000	0.71417|0.71417	0.795000|0.795000	0.32087|0.32087	0.753000|0.753000	0.42808|0.42808	2.176000|2.176000	0.42500|0.42500	0.612000|0.612000	0.30071|0.30071	0.305000|0.305000	0.20034|0.20034	TGT|CTG	A|0.957;T|0.043	0.043	strong		0.517	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		T	76240877	A	T	76240877	3	4	22	1	0	0	0	0	1	0	0	0	12247	188	7	5	105	5	POMZP3	7	76240877	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	108072	76240877	82897786	4240	9348										
PION	54103	hgsc.bcm.edu	37	chr7	76950686	76950686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgaagattatgtttcctcCaattggtttctacgatgtgg	9	6	1	2	rs17151689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:76950686C>A	ENST00000257626.7	-	25	2036	c.1958G>T	c.(1957-1959)tGg>tTg	p.W653L	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	653			W -> L (in dbSNP:rs17151689).		positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATGTTTCCTCCAATTGGTTTC	0.453													C|||	398	0.0794728	0.1203	0.0432	5008	,	,		21400	0.0724		0.0368	False		,,,				2504	0.1012				p.W653L		Atlas-SNP	.											PION,NS,carcinoma,-1,1	PION	74	1	0			c.G1958T						PASS	.	C	LEU/TRP	395,3545		20,355,1595	122	119	120		1958	5.6	1	7	dbSNP_123	120	371,7945		7,357,3794	yes	missense	PION	NM_017439.3	61	27,712,5389	AA,AC,CC		4.4613,10.0254,6.25	probably-damaging	653/855	76950686	766,11490	1970	4158	6128	SO:0001583	missense	54103	exon25			TTCCTCCAATTGG		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1958G>T	7.37:g.76950686C>A	ENSP00000257626:p.Trp653Leu	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	195	103	0.528205	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	153	0.07005494505494506	57	0.11585365853658537	18	0.049723756906077346	50	0.08741258741258741	28	0.036939313984168866	C	15.79	2.935996	0.52972	0.100254	0.044613	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.29142	1.58;1.58	5.56	5.56	0.83823	.	0.061038	0.64402	D	0.000001	T	0.00906	0.0030	M	0.69823	2.125	0.09310	P	1.0	D	0.58620	0.983	P	0.54544	0.755	T	0.00928	-1.1511	9	0.72032	D	0.01	.	16.8033	0.85619	0.0:1.0:0.0:0.0	rs17151689;rs17151689	653	A4D1B5	GSAP_HUMAN	L	653;106	ENSP00000257626:W653L;ENSP00000396230:W106L	ENSP00000257626:W653L	W	-	2	0	PION	76788622	1.000000	0.71417	0.992000	0.48379	0.634000	0.38068	4.639000	0.61361	2.777000	0.95525	0.591000	0.81541	TGG	C|0.925;A|0.075	0.075	strong		0.453	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		A	76950686	C	A	76950686	3	1	22	1	0	0	0	0	1	0	0	0	11934	595	21	4	634	4	PION	7	76950686	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	709809	76950686	82187977	4241	9349										
PION	54103	hgsc.bcm.edu	37	chr7	77010661	77010661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcgacatggatacgaaaTtgttcaatatctttaaaaga	9	5	2	1	rs17152629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:77010661T>C	ENST00000257626.7	-	8	615	c.537A>G	c.(535-537)caA>caG	p.Q179Q		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	179					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGATACGAAATTGTTCAATAT	0.284													T|||	157	0.0313498	0.1104	0.0144	5008	,	,		18372	0.001		0.0	False		,,,				2504	0.0				p.Q179Q		Atlas-SNP	.											.	PION	74	.	0			c.A537G						PASS	.	T		349,3271		20,309,1481	66	63	64		537	-1.6	0.2	7	dbSNP_123	64	3,8131		0,3,4064	no	coding-synonymous	PION	NM_017439.3		20,312,5545	CC,CT,TT		0.0369,9.6409,2.9947		179/855	77010661	352,11402	1810	4067	5877	SO:0001819	synonymous_variant	54103	exon8			ACGAAATTGTTCA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.537A>G	7.37:g.77010661T>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																			T|0.965;C|0.035	0.035	strong		0.284	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		C	77010661	T	C	77010661	2	2	22	1	0	0	0	0	0	0	0	1	11934	1490	52	2		2	PION	7	77010661	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	59975	77010661	82128002	4242	9350										
PTPN12	5782	hgsc.bcm.edu	37	chr7	77247821	77247821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattaacactgaaaacatgGtcagctccatagagcctgaa	7	9	1	3	rs9640663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:77247821G>A	ENST00000248594.6	+	12	1236	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	PTPN12_ENST00000415482.2_Missense_Mutation_p.V203I|PTPN12_ENST00000435495.2_Missense_Mutation_p.V192I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	322			V -> I (in dbSNP:rs9640663). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1472029, ECO:0000269|PubMed:18669648, ECO:0000269|Ref.5}.		protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TGAAAACATGGTCAGCTCCAT	0.353													G|||	3943	0.78734	0.8729	0.7695	5008	,	,		15802	0.9048		0.6252	False		,,,				2504	0.7301				p.V322I		Atlas-SNP	.											PTPN12,rectum,carcinoma,0,1	PTPN12	83	1	0			c.G964A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL	3643,763	755.1+/-412.5	1510,623,70	115	119	118		607,574,964	3.4	1	7	dbSNP_119	118	5049,3551	629.9+/-398.3	1521,2007,772	yes	missense,missense,missense	PTPN12	NM_001131008.1,NM_001131009.1,NM_002835.3	29,29,29	3031,2630,842	AA,AG,GG		41.2907,17.3173,33.1693	benign,benign,benign	203/662,192/651,322/781	77247821	8692,4314	2203	4300	6503	SO:0001583	missense	5782	exon12			AACATGGTCAGCT		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.964G>A	7.37:g.77247821G>A	ENSP00000248594:p.Val322Ile	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_002835	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	1661	0.7605311355311355	424	0.8617886178861789	266	0.7348066298342542	508	0.8881118881118881	463	0.6108179419525066	G	12.04	1.817478	0.32145	0.826827	0.587093	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.34472	1.36;1.36;1.36	5.21	3.41	0.39046	.	0.432581	0.24759	N	0.035823	T	0.00012	0.0000	N	0.17674	0.51	0.39781	P	0.027707000000000037	B	0.02656	0.0	B	0.06405	0.002	T	0.23048	-1.0199	9	0.15066	T	0.55	.	9.1932	0.37211	0.2234:0.0:0.7766:0.0	rs9640663;rs17382002;rs17854591;rs58031922;rs9640663	322	Q05209	PTN12_HUMAN	I	322;203;203;192	ENSP00000248594:V322I;ENSP00000392429:V203I;ENSP00000397991:V192I	ENSP00000248594:V322I	V	+	1	0	PTPN12	77085757	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	2.143000	0.42187	0.696000	0.31696	0.467000	0.42956	GTC	G|0.277;A|0.722	0.722	strong		0.353	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			A	77247821	G	A	77247821	3	1	22	1	0	0	0	0	1	0	0	0	12781	1261	44	2	1010	2	PTPN12	7	77247821	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	237160	77247821	81890842	4243	9351										
RSBN1L	222194	hgsc.bcm.edu	37	chr7	77325919	77325919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctctgtccgccaagaagGtccggactgaggagaagaag	14	9	1	4	rs79095281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:77325919G>A	ENST00000334955.8	+	1	160	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	RSBN1L-AS1_ENST00000440088.1_lincRNA|RSBN1L_ENST00000445288.1_5'Flank	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	45						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCAAGAAGGTCCGGACTGA	0.677													G|||	139	0.0277556	0.1029	0.0043	5008	,	,		14173	0.0		0.0	False		,,,				2504	0.0				p.V45I		Atlas-SNP	.											.	RSBN1L	74	.	0			c.G133A						PASS	.	G	ILE/VAL	329,3439		19,291,1574	34	45	41		133	2.1	1	7	dbSNP_131	41	3,8221		0,3,4109	yes	missense	RSBN1L	NM_198467.2	29	19,294,5683	AA,AG,GG		0.0365,8.7314,2.7685	benign	45/847	77325919	332,11660	1884	4112	5996	SO:0001583	missense	222194	exon1			AAGAAGGTCCGGA	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.133G>A	7.37:g.77325919G>A	ENSP00000334040:p.Val45Ile	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	67	39	0.58209	NM_198467	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	47	0.02152014652014652	45	0.09146341463414634	2	0.0055248618784530384	0	0.0	0	0.0	G	12.96	2.095669	0.36952	0.087314	3.65E-4	ENSG00000187257	ENST00000334955	.	.	.	4.02	2.14	0.27477	.	0.551396	0.14695	N	0.303893	T	0.01124	0.0037	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.03184	-1.1063	9	0.19147	T	0.46	-2.8559	7.0249	0.24934	0.2286:0.0:0.7714:0.0	.	45	Q6PCB5	RSBNL_HUMAN	I	45	.	ENSP00000334040:V45I	V	+	1	0	RSBN1L	77163855	0.998000	0.40836	0.998000	0.56505	0.557000	0.35523	0.398000	0.20899	0.421000	0.25980	0.313000	0.20887	GTC	G|0.973;A|0.027	0.027	strong		0.677	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		A	77325919	G	A	77325919	3	1	22	1	0	0	0	0	1	0	0	0	13697	1261	44	2	135	2	RSBN1L	7	77325919	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78098	77325919	81812744	4244	9352										
RSBN1L	222194	hgsc.bcm.edu	37	chr7	77365770	77365770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagagacaaagaaaaagaAagagaaaaaaagaaacataa	9	2	0	6	rs3764824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:77365770A>G	ENST00000334955.8	+	2	657	c.630A>G	c.(628-630)gaA>gaG	p.E210E	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	210	Lys-rich.					nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						aagaaaaagaaagagaaaaaa	0.249													G|||	2892	0.577476	0.8979	0.4481	5008	,	,		15634	0.3095		0.5219	False		,,,				2504	0.5695				p.E210E		Atlas-SNP	.											.	RSBN1L	74	.	0			c.A630G						PASS	.	G		2886,600		1200,486,57	51	53	53		630	2.8	1	7	dbSNP_107	53	4049,3933		1084,1881,1026	no	coding-synonymous	RSBN1L	NM_198467.2		2284,2367,1083	GG,GA,AA		49.2734,17.2117,39.5274		210/847	77365770	6935,4533	1743	3991	5734	SO:0001819	synonymous_variant	222194	exon2			AAAAGAAAGAGAA	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.630A>G	7.37:g.77365770A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_198467	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	CCDS43607.1																																																																																			A|0.466;G|0.534	0.534	strong		0.249	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		G	77365770	A	G	77365770	2	3	22	1	0	0	0	0	0	0	0	1	13697	11	1	2		2	RSBN1L	7	77365770	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39851	77365770	81772893	4245	9353										
TMEM60	85025	hgsc.bcm.edu	37	chr7	77423574	77423574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaatatccagactggaatGaatatgaggaaccagttcca	8	8	1	3	rs7953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:77423574G>A	ENST00000257663.3	-	2	493	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						AGACTGGAATGAATATGAGGA	0.448													A|||	2838	0.566693	0.8646	0.4424	5008	,	,		20016	0.3165		0.508	False		,,,				2504	0.5706				p.F39F		Atlas-SNP	.											.	TMEM60	24	.	0			c.C117T						PASS	.	A		3494,912	348.2+/-309.8	1386,722,95	76	76	76		117	3.8	1	7	dbSNP_52	76	4227,4373	583.0+/-391.5	1081,2065,1154	no	coding-synonymous	TMEM60	NM_032936.3		2467,2787,1249	AA,AG,GG		49.1512,20.699,40.6351		39/134	77423574	7721,5285	2203	4300	6503	SO:0001819	synonymous_variant	85025	exon2			TGGAATGAATATG	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 35"	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.117C>T	7.37:g.77423574G>A		Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_032936	A4D1C3|Q86UM0	Silent	SNP	ENST00000257663.3	37	CCDS5593.1																																																																																			G|0.424;A|0.576	0.576	strong		0.448	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		A	77423574	G	A	77423574	2	1	22	1	0	0	0	0	0	0	0	1	16184	1281	45	2		2	TMEM60	7	77423574	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57804	77423574	81715089	4246	9354										
GNAI1	2770	hgsc.bcm.edu	37	chr7	79828573	79828573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactctttgtgctagctggAgctgctgaagaaggctttat	11	8	1	2	rs6970347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:79828573A>G	ENST00000351004.3	+	4	709	c.336A>G	c.(334-336)ggA>ggG	p.G112G	GNAI1_ENST00000457358.2_Silent_p.G60G	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	112					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTAGCTGGAGCTGCTGAAG	0.413													A|||	92	0.0183706	0.0673	0.0043	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.0				p.G112G		Atlas-SNP	.											.	GNAI1	44	.	0			c.A336G						PASS	.	A		284,4122	157.8+/-190.6	14,256,1933	116	110	112		336	-3	1	7	dbSNP_116	112	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	GNAI1	NM_002069.5		14,258,6231	GG,GA,AA		0.0233,6.4458,2.199		112/355	79828573	286,12720	2203	4300	6503	SO:0001819	synonymous_variant	2770	exon4			AGCTGGAGCTGCT	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.336A>G	7.37:g.79828573A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	78	40	0.512821	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	37	CCDS5595.1																																																																																			A|0.982;G|0.018	0.018	strong		0.413	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		G	79828573	A	G	79828573	2	3	22	1	0	0	0	0	0	0	0	1	6504	291	11	3		3	GNAI1	7	79828573	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2404999	79828573	79310090	4247	9355										
GNAI1	2770	hgsc.bcm.edu	37	chr7	79840339	79840339	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagtggattcattgcttCgaaggagtgacggcgatcat	13	6	2	2	rs12721454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:79840339C>T	ENST00000351004.3	+	6	1018	c.645C>T	c.(643-645)ttC>ttT	p.F215F	GNAI1_ENST00000457358.2_Silent_p.F163F	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	215					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTCATTGCTTCGAAGGAGTGA	0.413													C|||	376	0.0750799	0.2731	0.0187	5008	,	,		18249	0.0		0.002	False		,,,				2504	0.0				p.F215F		Atlas-SNP	.											.	GNAI1	44	.	0			c.C645T						PASS	.	C		888,3518	344.6+/-308.2	93,702,1408	170	141	151		645	-3.1	1	7	dbSNP_123	151	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	GNAI1	NM_002069.5		93,705,5705	TT,TC,CC		0.0349,20.1543,6.8507		215/355	79840339	891,12115	2203	4300	6503	SO:0001819	synonymous_variant	2770	exon6			TTGCTTCGAAGGA	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.645C>T	7.37:g.79840339C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	145	85	0.586207	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	37	CCDS5595.1																																																																																			C|0.935;T|0.065	0.065	strong		0.413	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		T	79840339	C	T	79840339	2	4	22	1	0	0	0	0	0	0	0	1	6504	883	31	1		1	GNAI1	7	79840339	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11766	79840339	79298324	4248	9356										
CD36	948	hgsc.bcm.edu	37	chr7	80300449	80300449	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaaaattgtacatcataTggtgtgctagacatcagcaa	7	7	3	1	rs3211938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:80300449T>G	ENST00000435819.1	+	13	1659	c.975T>G	c.(973-975)taT>taG	p.Y325*	CD36_ENST00000544133.1_Intron|CD36_ENST00000309881.7_Nonsense_Mutation_p.Y325*|CD36_ENST00000433696.2_Nonsense_Mutation_p.Y286*|CD36_ENST00000394788.3_Nonsense_Mutation_p.Y325*|CD36_ENST00000534394.1_Nonsense_Mutation_p.Y249*|CD36_ENST00000432207.1_Nonsense_Mutation_p.Y325*|CD36_ENST00000538969.1_Nonsense_Mutation_p.Y265*|CD36_ENST00000447544.2_Nonsense_Mutation_p.Y325*			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	325					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTACATCATATGGTGTGCTAG	0.363													T|||	155	0.0309505	0.1157	0.0029	5008	,	,		16040	0.0		0.0	False		,,,				2504	0.0				p.Y325X		Atlas-SNP	.											.	CD36	185	.	0			c.T975G	GRCh37	CM001647	CD36	M	rs3211938	PASS	.	T	stop/TYR,stop/TYR,stop/TYR,stop/TYR,stop/TYR	361,4045	182.6+/-210.3	16,329,1858	76	75	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	975,975,975,975,975	-0.8	0.5	7	dbSNP_105	75	2,8598	1.2+/-3.3	0,2,4298	yes	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	,,,,	16,331,6156	GG,GT,TT		0.0233,8.1934,2.791	,,,,	325/473,325/473,325/473,325/473,325/473	80300449	363,12643	2203	4300	6503	SO:0001587	stop_gained	948	exon8			ATCATATGGTGTG	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.975T>G	7.37:g.80300449T>G	ENSP00000399421:p.Tyr325*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_001127444	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Nonsense_Mutation	SNP	ENST00000435819.1	37	CCDS34673.1	72	0.03296703296703297	72	0.14634146341463414	0	0.0	0	0.0	0	0.0	T	35	5.563074	0.96527	0.081934	2.33E-4	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	.	.	.	5.57	-0.823	0.10815	.	0.163457	0.53938	D	0.000054	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6549	9.8443	0.41017	0.0:0.3443:0.0:0.6557	rs3211938;rs10372565;rs17154273;rs3211938	.	.	.	X	325;325;249;325;325;325;325;265;286	.	.	Y	+	3	2	CD36	80138385	0.999000	0.42202	0.528000	0.27938	0.976000	0.68499	0.485000	0.22324	-0.378000	0.07918	0.397000	0.26171	TAT	T|0.967;G|0.033	0.033	strong		0.363	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		G	80300449	T	G	80300449	4	3	22	1	0	0	0	0	0	1	0	0	3007	1471	51	5	1005	5	CD36	7	80300449	Nonsense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	460110	80300449	78838214	4249	9357										
SEMA3C	10512	hgsc.bcm.edu	37	chr7	80387766	80387766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcagcggtgcagagatacCtgggaaaccccttcattgga	13	10	1	1	rs1058425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:80387766C>T	ENST00000265361.3	-	15	2085	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	SEMA3C_ENST00000419255.2_Silent_p.Q508Q|SEMA3C_ENST00000544525.1_Silent_p.Q526Q	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	508	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCAGAGATACCTGGGAAACCC	0.483													T|||	2064	0.412141	0.6498	0.3285	5008	,	,		17783	0.4286		0.1928	False		,,,				2504	0.3589				p.Q508Q		Atlas-SNP	.											.	SEMA3C	106	.	0			c.G1524A						PASS	.	T		2650,1756	523.0+/-370.9	789,1072,342	103	106	105		1524	4.1	1	7	dbSNP_86	105	1672,6928	739.4+/-407.1	173,1326,2801	no	coding-synonymous	SEMA3C	NM_006379.3		962,2398,3143	TT,TC,CC		19.4419,39.8547,33.2308		508/752	80387766	4322,8684	2203	4300	6503	SO:0001819	synonymous_variant	10512	exon15			AGATACCTGGGAA	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1524G>A	7.37:g.80387766C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_006379	B4DRL8	Silent	SNP	ENST00000265361.3	37	CCDS5596.1																																																																																			C|0.633;T|0.367	0.367	strong		0.483	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80387766	C	T	80387766	2	4	22	1	0	0	0	0	0	0	0	1	14026	680	24	2		2	SEMA3C	7	80387766	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87317	80387766	78750897	4250	9358										
HGF	3082	hgsc.bcm.edu	37	chr7	81388042	81388042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcaaattcatggccaaaTtcttttttcactccacttga	5	10	4	1	rs5745635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:81388042T>C	ENST00000222390.5	-	3	559	c.333A>G	c.(331-333)gaA>gaG	p.E111E	HGF_ENST00000453018.1_Silent_p.E8E|HGF_ENST00000453411.1_Silent_p.E111E|HGF_ENST00000423064.2_Silent_p.E111E|HGF_ENST00000457544.2_Silent_p.E111E|HGF_ENST00000354224.6_Silent_p.E111E|HGF_ENST00000444829.2_Silent_p.E111E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	111	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATGGCCAAATTCTTTTTTCA	0.313													C|||	518	0.103435	0.3139	0.0317	5008	,	,		14939	0.0079		0.006	False		,,,				2504	0.0685				p.E111E		Atlas-SNP	.											HGF,spleen,lymphoid_neoplasm,-2,1	HGF	171	1	0			c.A333G						PASS	.	C	,,,,	1261,3145	702.0+/-406.8	174,913,1116	108	107	107		333,333,333,333,333	-3	0.1	7	dbSNP_114	107	92,8504	814.1+/-407.0	1,90,4207	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HGF	NM_000601.4,NM_001010931.1,NM_001010932.1,NM_001010933.1,NM_001010934.1	,,,,	175,1003,5323	CC,CT,TT		1.0703,28.6201,10.4061	,,,,	111/729,111/291,111/724,111/286,111/211	81388042	1353,11649	2203	4298	6501	SO:0001819	synonymous_variant	3082	exon3			GCCAAATTCTTTT		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.333A>G	7.37:g.81388042T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	CCDS5597.1																																																																																			T|0.896;C|0.104	0.104	strong		0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		C	81388042	T	C	81388042	2	2	22	1	0	0	0	0	0	0	0	1	7085	1490	52	2		2	HGF	7	81388042	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1000276	81388042	77750621	4251	9359										
CACNA2D1	781	hgsc.bcm.edu	37	chr7	81588636	81588636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggcccttttcggtatctGggttgcttaaccatgtcaca	9	11	3	0	rs1229502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:81588636G>A	ENST00000356253.5	-	38	3405	c.3150C>T	c.(3148-3150)ccC>ccT	p.P1050P	CACNA2D1_ENST00000535308.1_Silent_p.P250P|CACNA2D1_ENST00000356860.3_Silent_p.P1038P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1050					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P1038P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTCGGTATCTGGGTTGCTTAA	0.358													G|||	1115	0.222644	0.1127	0.255	5008	,	,		18274	0.2371		0.3042	False		,,,				2504	0.2495				p.P1038P		Atlas-SNP	.											CACNA2D1,NS,carcinoma,0,1	CACNA2D1	191	1	1	Substitution - coding silent(1)	stomach(1)	c.C3114T						PASS	.	G		608,3798	262.8+/-265.1	49,510,1644	114	104	107		3114	3.1	1	7	dbSNP_87	107	2712,5888	432.7+/-357.2	484,1744,2072	no	coding-synonymous	CACNA2D1	NM_000722.2		533,2254,3716	AA,AG,GG		31.5349,13.7994,25.5267		1038/1092	81588636	3320,9686	2203	4300	6503	SO:0001819	synonymous_variant	781	exon38			GTATCTGGGTTGC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3150C>T	7.37:g.81588636G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	72	33	0.458333	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																				G|0.750;A|0.250	0.250	strong		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	81588636	G	A	81588636	2	1	22	1	0	0	0	0	0	0	0	1	2548	1335	47	2		2	CACNA2D1	7	81588636	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	200594	81588636	77550027	4252	9360										
PCLO	27445	hgsc.bcm.edu	37	chr7	82585803	82585803	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctttatggtccttgctgGaaggaatatcttgttggcta	10	7	2	0	rs114445550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:82585803G>C	ENST00000333891.9	-	5	4803	c.4466C>G	c.(4465-4467)tCc>tGc	p.S1489C	PCLO_ENST00000423517.2_Missense_Mutation_p.S1489C	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						GTCCTTGCTGGAAGGAATATC	0.358													G|||	19	0.00379393	0.0144	0.0	5008	,	,		21243	0.0		0.0	False		,,,				2504	0.0				p.S1489C		Atlas-SNP	.											.	PCLO	1506	.	0			c.C4466G						PASS	.	G	CYS/SER,CYS/SER	50,3644		0,50,1797	112	103	106		4466,4466	3.6	0	7	dbSNP_132	106	0,8172		0,0,4086	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	112,112	0,50,5883	CC,CG,GG		0.0,1.3535,0.4214	possibly-damaging,possibly-damaging	1489/4936,1489/5143	82585803	50,11816	1847	4086	5933	SO:0001583	missense	27445	exon5			TTGCTGGAAGGAA	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.4466C>G	7.37:g.82585803G>C	ENSP00000334319:p.Ser1489Cys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	139	71	0.510791	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	0.586	-0.834971	0.02713	0.013535	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.28;2.28	5.43	3.57	0.40892	.	.	.	.	.	T	0.17408	0.0418	L	0.47716	1.5	0.09310	N	0.999996	P;P	0.49253	0.921;0.921	P;P	0.50378	0.518;0.639	T	0.04041	-1.0982	9	0.87932	D	0	.	10.4646	0.44600	0.0726:0.1355:0.7919:0.0	.	1489;1489	Q9Y6V0-5;Q9Y6V0-6	.;.	C	1420;1489;1489	ENSP00000334319:S1489C;ENSP00000388393:S1489C	ENSP00000334319:S1489C	S	-	2	0	PCLO	82423739	0.976000	0.34144	0.012000	0.15200	0.080000	0.17528	3.139000	0.50577	1.265000	0.44215	0.650000	0.86243	TCC	G|0.997;C|0.003	0.003	strong		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82585803	G	C	82585803	3	2	22	1	0	0	0	0	1	0	0	0	11583	1174	41	4	11063	4	PCLO	7	82585803	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	997167	82585803	76552860	4253	9361										
PCLO	27445	hgsc.bcm.edu	37	chr7	82764924	82764924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaactggagccagatcccCgcctagagctcttttcattt	9	13	2	2	rs138200846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:82764924C>T	ENST00000333891.9	-	3	2279	c.1942G>A	c.(1942-1944)Ggg>Agg	p.G648R	PCLO_ENST00000423517.2_Missense_Mutation_p.G648R	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						GCCAGATCCCCGCCTAGAGCT	0.453													C|||	35	0.00698882	0.0242	0.0043	5008	,	,		14124	0.0		0.0	False		,,,				2504	0.0				p.G648R		Atlas-SNP	.											.	PCLO	1506	.	0			c.G1942A						PASS	.	C	ARG/GLY,ARG/GLY	88,3802		0,88,1857	57	57	57		1942,1942	5.3	1	7	dbSNP_134	57	1,8259		0,1,4129	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	125,125	0,89,5986	TT,TC,CC		0.0121,2.2622,0.7325	probably-damaging,probably-damaging	648/4936,648/5143	82764924	89,12061	1945	4130	6075	SO:0001583	missense	27445	exon3			GATCCCCGCCTAG	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.1942G>A	7.37:g.82764924C>T	ENSP00000334319:p.Gly648Arg	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	155	83	0.535484	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	C	7.181	0.589683	0.13812	0.022622	1.21E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.27	5.31	5.31	0.75309	.	.	.	.	.	T	0.11153	0.0272	L	0.34521	1.04	0.25271	N	0.989512	D;D	0.69078	0.997;0.997	P;P	0.50970	0.655;0.655	T	0.04481	-1.0948	9	0.87932	D	0	.	12.3476	0.55130	0.0:0.9226:0.0:0.0774	.	648;648	Q9Y6V0-5;Q9Y6V0-6	.;.	R	594;648;648	ENSP00000334319:G648R;ENSP00000388393:G648R	ENSP00000334319:G648R	G	-	1	0	PCLO	82602860	0.380000	0.25131	0.990000	0.47175	0.708000	0.40852	2.840000	0.48215	2.485000	0.83878	0.591000	0.81541	GGG	C|0.995;T|0.005	0.005	strong		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82764924	C	T	82764924	3	4	22	1	0	0	0	0	1	0	0	0	11583	652	23	1	13595	1	PCLO	7	82764924	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	179121	82764924	76373739	4254	9362										
PCLO	27445	hgsc.bcm.edu	37	chr7	82785096	82785096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgattctccccttactatGtctgcctgtttagtctgagg	8	11	3	2	rs61744360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:82785096G>A	ENST00000333891.9	-	2	1198	c.861C>T	c.(859-861)gaC>gaT	p.D287D	PCLO_ENST00000423517.2_Silent_p.D287D	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						CCCTTACTATGTCTGCCTGTT	0.512													G|||	12	0.00239617	0.0068	0.0029	5008	,	,		18830	0.0		0.0	False		,,,				2504	0.001				p.D287D		Atlas-SNP	.											.	PCLO	1506	.	0			c.C861T						PASS	.	G	,	25,4119		0,25,2047	122	111	114		861,861	-1	0	7	dbSNP_129	114	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,25,6258	AA,AG,GG		0.0,0.6033,0.1989	,	287/4936,287/5143	82785096	25,12541	2072	4211	6283	SO:0001819	synonymous_variant	27445	exon2			TACTATGTCTGCC	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.861C>T	7.37:g.82785096G>A		Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	270	125	0.462963	NM_014510		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																			G|0.998;A|0.002	0.002	strong		0.512	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82785096	G	A	82785096	2	1	22	1	0	0	0	0	0	0	0	1	11583	1368	48	2		2	PCLO	7	82785096	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20172	82785096	76353567	4255	9363										
SEMA3E	9723	hgsc.bcm.edu	37	chr7	83035289	83035289	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaatatgtgtcaattccAttcattcctggtactgagca	6	9	3	1	rs28505908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:83035289A>G	ENST00000307792.3	-	8	1367	c.900T>C	c.(898-900)aaT>aaC	p.N300N	SEMA3E_ENST00000427262.1_Silent_p.N240N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	300	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTCAATTCCATTCATTCCTG	0.353													A|||	60	0.0119808	0.0454	0.0	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0				p.N300N		Atlas-SNP	.											.	SEMA3E	125	.	0			c.T900C						PASS	.	A	,	154,4252	106.0+/-144.5	1,152,2050	159	145	150		720,900	3.3	1	7	dbSNP_125	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SEMA3E	NM_001178129.1,NM_012431.2	,	1,154,6348	GG,GA,AA		0.0233,3.4952,1.1994	,	240/716,300/776	83035289	156,12850	2203	4300	6503	SO:0001819	synonymous_variant	9723	exon8			AATTCCATTCATT	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.900T>C	7.37:g.83035289A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	104	51	0.490385	NM_012431	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																			A|0.987;G|0.013	0.013	strong		0.353	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		G	83035289	A	G	83035289	2	3	22	1	0	0	0	0	0	0	0	1	14028	214	8	2		2	SEMA3E	7	83035289	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	250193	83035289	76103374	4256	9364										
SEMA3D	223117	hgsc.bcm.edu	37	chr7	84697540	84697540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaaaggctgctgaggatCgaaaggacatttcagtctgc	12	8	2	1	rs148351346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:84697540C>T	ENST00000284136.6	-	5	599	c.556G>A	c.(556-558)Gat>Aat	p.D186N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.D186N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	186	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTGAGGATCGAAAGGACAT	0.343													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17192	0.0		0.0	False		,,,				2504	0.0				p.D186N	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.G556A						PASS	.	C	ASN/ASP	13,4393	20.2+/-43.8	0,13,2190	103	102	102		556	5.5	1	7	dbSNP_134	102	0,8600		0,0,4300	yes	missense	SEMA3D	NM_152754.2	23	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	probably-damaging	186/778	84697540	13,12993	2203	4300	6503	SO:0001583	missense	223117	exon5			GAGGATCGAAAGG	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.556G>A	7.37:g.84697540C>T	ENSP00000284136:p.Asp186Asn	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	33	5.213062	0.95069	0.002951	0.0	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.15017	2.46;2.46	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.72479	2.2	0.80722	D	1	D;P	0.59357	0.985;0.769	P;B	0.54238	0.746;0.404	T	0.01276	-1.1398	10	0.40728	T	0.16	.	19.7307	0.96181	0.0:1.0:0.0:0.0	.	186;186	C9JYT6;O95025	.;SEM3D_HUMAN	N	186	ENSP00000284136:D186N;ENSP00000401366:D186N	ENSP00000284136:D186N	D	-	1	0	SEMA3D	84535476	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.435000	0.80391	2.707000	0.92482	0.655000	0.94253	GAT	C|0.999;T|0.001	0.001	strong		0.343	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84697540	C	T	84697540	3	4	22	1	0	0	0	0	1	0	0	0	14027	884	31	1	1829	1	SEMA3D	7	84697540	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1662251	84697540	74441123	4257	9365										
GRM3	2913	hgsc.bcm.edu	37	chr7	86479694	86479694	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcttgtaggtgcagacGacaaccatgtgcatctctgt	9	11	2	1	rs76035289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:86479694G>A	ENST00000361669.2	+	5	3499	c.2400G>A	c.(2398-2400)acG>acA	p.T800T	GRM3_ENST00000439827.1_Missense_Mutation_p.D445N|GRM3_ENST00000546348.1_Silent_p.T392T|GRM3_ENST00000536043.1_Silent_p.T672T|GRM3_ENST00000394720.2_Missense_Mutation_p.D443N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	800					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGGTGCAGACGACAACCATGT	0.458													G|||	68	0.0135783	0.0469	0.0058	5008	,	,		21770	0.001		0.001	False		,,,				2504	0.0				p.T800T	GBM(52;969 1098 3139 52280)	Atlas-SNP	.											.	GRM3	237	.	0			c.G2400A						PASS	.	G		178,4228	115.0+/-153.0	2,174,2027	218	151	173		2400	-11.9	0.1	7	dbSNP_131	173	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	GRM3	NM_000840.2		2,181,6320	AA,AG,GG		0.0814,4.0399,1.4224		800/880	86479694	185,12821	2203	4300	6503	SO:0001819	synonymous_variant	2913	exon5			GCAGACGACAACC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2400G>A	7.37:g.86479694G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	156	82	0.525641	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	CCDS5600.1	30	0.013736263736263736	29	0.05894308943089431	0	0.0	0	0.0	1	0.0013192612137203166	G	9.085	1.000326	0.19121	0.040399	8.14E-4	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.85773	-2.03;-2.03	5.97	-11.9	0.00025	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.49799	-0.8901	8	0.66056	D	0.02	.	2.9374	0.05819	0.4424:0.2623:0.1692:0.1262	.	445	G5E9K2	.	N	445;443	ENSP00000398767:D445N;ENSP00000378209:D443N	ENSP00000378209:D443N	D	+	1	0	GRM3	86317630	0.000000	0.05858	0.132000	0.22025	0.766000	0.43426	-1.862000	0.01653	-2.006000	0.00958	-1.779000	0.00650	GAC	G|0.985;A|0.015	0.015	strong		0.458	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86479694	G	A	86479694	2	1	22	1	0	0	0	0	0	0	0	1	6798	1045	37	1		1	GRM3	7	86479694	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1782154	86479694	72658969	4258	9366										
CROT	54677	hgsc.bcm.edu	37	chr7	86986863	86986863	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaggggtcttgatccagaTgctaagagagggttcttgga	14	5	2	3	rs75642989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:86986863T>C	ENST00000331536.3	+	4	300				CROT_ENST00000412227.2_Intron|CROT_ENST00000442291.1_Intron|CROT_ENST00000419147.2_Silent_p.D52D	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ttgatccagatgctaagagag	0.483													C|||	89	0.0177716	0.0658	0.0029	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0				p.D52D		Atlas-SNP	.											.	CROT	81	.	0			c.T156C						PASS	.	C	,	61,1323		2,57,633	146	124	130		156,	0.2	0	7	dbSNP_132	130	1,3181		0,1,1590	no	coding-synonymous,intron	CROT	NM_001143935.1,NM_021151.3	,	2,58,2223	CC,CT,TT		0.0314,4.4075,1.3579	,	52/641,	86986863	62,4504	692	1591	2283	SO:0001627	intron_variant	54677	exon4			TCCAGATGCTAAG		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.116-1659T>C	7.37:g.86986863T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	37	0.513889	NM_001143935	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	CCDS5604.1																																																																																			T|0.986;C|0.014	0.014	strong		0.483	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		C	86986863	T	C	86986863	1	2	22	0	1	0	0	0	0	0	0	0	3894	1461	51	2		2	CROT	7	86986863	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	507169	86986863	72151800	4259	9367										
ABCB1	5243	hgsc.bcm.edu	37	chr7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacattttcacggccatagcGaatgttttcagctatcgtgg	10	9	2	0	rs142600685		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:87179256G>A	ENST00000265724.3	-	14	1882	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R425C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	489	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGGCCATAGCGAATGTTTTCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0				p.R489C		Atlas-SNP	.											ABCB1,NS,carcinoma,0,2	ABCB1	263	2	0			c.C1465T						PASS	.	G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	236	218	224		1465	5.3	1	7	dbSNP_134	224	0,8600		0,0,4300	yes	missense	ABCB1	NM_000927.4	180	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	489/1281	87179256	6,13000	2203	4300	6503	SO:0001583	missense	5243	exon14			CATAGCGAATGTT	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1465C>T	7.37:g.87179256G>A	ENSP00000265724:p.Arg489Cys	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	136	57	0.419118	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858540	0.71834	0.001362	0.0	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90955	-2.76;-2.76	6.16	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.048148	0.85682	D	0.000000	D	0.93074	0.7795	M	0.64260	1.97	0.80722	D	1	B;P	0.49862	0.256;0.929	B;P	0.56216	0.116;0.794	D	0.93216	0.6604	10	0.54805	T	0.06	-11.5298	15.7393	0.77876	0.0651:0.0:0.9349:0.0	.	425;489	B5AK60;P08183	.;MDR1_HUMAN	C	270;489;425	ENSP00000265724:R489C;ENSP00000444095:R425C	ENSP00000265724:R489C	R	-	1	0	ABCB1	87017192	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.779000	0.47734	1.622000	0.50330	0.650000	0.86243	CGC	G|0.999;A|0.001	0.001	strong		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87179256	G	A	87179256	3	1	22	1	0	0	0	0	1	0	0	0	40	1058	37	1	2441	1	ABCB1	7	87179256	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	192393	87179256	71959407	4260	9368										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88963401	88963401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcaaatgcttccttcagcCcaccaaacatttacaaccat	3	14	1	0	rs141118086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:88963401C>T	ENST00000333190.4	+	4	1714	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	369							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCCTTCAGCCCACCAAACAT	0.393										HNSCC(36;0.09)			C|||	81	0.0161741	0.0575	0.0058	5008	,	,		18756	0.0		0.001	False		,,,				2504	0.0				p.P369S		Atlas-SNP	.											.	ZNF804B	322	.	0			c.C1105T						PASS	.	C	SER/PRO	239,4165	136.1+/-172.1	7,225,1970	43	48	46		1105	3.1	0.8	7	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF804B	NM_181646.2	74	7,226,6269	TT,TC,CC		0.0116,5.4269,1.8456	probably-damaging	369/1350	88963401	240,12764	2202	4300	6502	SO:0001583	missense	219578	exon4			TTCAGCCCACCAA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1105C>T	7.37:g.88963401C>T	ENSP00000329638:p.Pro369Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	83	34	0.409639	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	26	0.011904761904761904	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	11.61	1.688835	0.29962	0.054269	1.16E-4	ENSG00000182348	ENST00000333190	T	0.05199	3.48	4.86	3.07	0.35406	.	0.639011	0.14589	N	0.310354	T	0.01092	0.0036	M	0.67953	2.075	0.09310	N	1	B	0.34372	0.451	B	0.23150	0.044	T	0.17623	-1.0363	10	0.41790	T	0.15	-1.6547	11.2317	0.48916	0.0:0.8527:0.0:0.1473	.	369	A4D1E1	Z804B_HUMAN	S	369	ENSP00000329638:P369S	ENSP00000329638:P369S	P	+	1	0	ZNF804B	88801337	0.052000	0.20516	0.793000	0.32043	0.997000	0.91878	1.203000	0.32284	0.670000	0.31165	0.655000	0.94253	CCA	C|0.986;T|0.014	0.014	strong		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88963401	C	T	88963401	3	4	22	1	0	0	0	0	1	0	0	0	18168	623	22	2	1119	2	ZNF804B	7	88963401	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1784145	88963401	70175262	4261	9369										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88964000	88964000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataagagtgaatatactttCagtgcaaatgatttggaaat	8	3	1	3	rs801839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:88964000C>T	ENST00000333190.4	+	4	2313	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	568							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATACTTTCAGTGCAAATG	0.353										HNSCC(36;0.09)			T|||	2553	0.509784	0.7345	0.3401	5008	,	,		19433	0.7153		0.2336	False		,,,				2504	0.3988				p.F568F		Atlas-SNP	.											.	ZNF804B	322	.	0			c.C1704T						PASS	.	T		2816,1566		895,1026,270	42	45	44		1704	4.3	0.5	7	dbSNP_86	44	2011,6581		238,1535,2523	no	coding-synonymous	ZNF804B	NM_181646.2		1133,2561,2793	TT,TC,CC		23.4055,35.7371,37.2052		568/1350	88964000	4827,8147	2191	4296	6487	SO:0001819	synonymous_variant	219578	exon4			TACTTTCAGTGCA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1704C>T	7.37:g.88964000C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																			C|0.493;T|0.507	0.507	strong		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88964000	C	T	88964000	2	4	22	1	0	0	0	0	0	0	0	1	18168	825	29	2		2	ZNF804B	7	88964000	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	599	88964000	70174663	4262	9370										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88964162	88964162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagttctaaatgatatagaTgaggacctatcttttccttc	7	8	2	3	rs150870900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:88964162T>G	ENST00000333190.4	+	4	2475	c.1866T>G	c.(1864-1866)gaT>gaG	p.D622E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	622							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATGATATAGATGAGGACCTAT	0.383										HNSCC(36;0.09)			T|||	31	0.0061901	0.0204	0.0058	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.0				p.D622E		Atlas-SNP	.											.	ZNF804B	322	.	0			c.T1866G						PASS	.	T	GLU/ASP	63,4343	59.3+/-96.0	0,63,2140	74	78	77		1866	-1.2	0	7	dbSNP_134	77	0,8600		0,0,4300	yes	missense	ZNF804B	NM_181646.2	45	0,63,6440	GG,GT,TT		0.0,1.4299,0.4844	benign	622/1350	88964162	63,12943	2203	4300	6503	SO:0001583	missense	219578	exon4			TATAGATGAGGAC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1866T>G	7.37:g.88964162T>G	ENSP00000329638:p.Asp622Glu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	102	46	0.45098	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	T	0.048	-1.259050	0.01445	0.014299	0.0	ENSG00000182348	ENST00000333190	T	0.04454	3.62	5.49	-1.24	0.09435	.	0.337088	0.29376	N	0.012335	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46205	-0.9208	10	0.02654	T	1	-6.4004	6.3638	0.21443	0.0:0.1906:0.325:0.4844	.	622	A4D1E1	Z804B_HUMAN	E	622	ENSP00000329638:D622E	ENSP00000329638:D622E	D	+	3	2	ZNF804B	88802098	0.211000	0.23529	0.002000	0.10522	0.037000	0.13140	-0.303000	0.08210	-0.334000	0.08463	0.533000	0.62120	GAT	T|0.996;G|0.004	0.004	strong		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88964162	T	G	88964162	3	3	22	1	0	0	0	0	1	0	0	0	18168	1461	51	5	1880	5	ZNF804B	7	88964162	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	162	88964162	70174501	4263	9371										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88965040	88965040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaccacagaatcaaacaCtgcagaaggagagaggaccc	10	10	1	4	rs56948780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:88965040C>T	ENST00000333190.4	+	4	3353	c.2744C>T	c.(2743-2745)aCt>aTt	p.T915I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	915			T -> I (in dbSNP:rs56948780).				metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAATCAAACACTGCAGAAGGA	0.433										HNSCC(36;0.09)			T|||	199	0.0397364	0.1445	0.0101	5008	,	,		18290	0.0		0.001	False		,,,				2504	0.0				p.T915I		Atlas-SNP	.											.	ZNF804B	322	.	0			c.C2744T						PASS	.	T	ILE/THR	522,3884	769.0+/-413.6	33,456,1714	93	99	97		2744	2.7	0	7	dbSNP_129	97	7,8593	818.2+/-406.9	0,7,4293	yes	missense	ZNF804B	NM_181646.2	89	33,463,6007	TT,TC,CC		0.0814,11.8475,4.0674	benign	915/1350	88965040	529,12477	2203	4300	6503	SO:0001583	missense	219578	exon4			CAAACACTGCAGA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2744C>T	7.37:g.88965040C>T	ENSP00000329638:p.Thr915Ile	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	130	65	0.5	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	67	0.030677655677655676	63	0.12804878048780488	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	T	0.047	-1.263638	0.01445	0.118475	8.14E-4	ENSG00000182348	ENST00000333190	T	0.04406	3.63	5.02	2.67	0.31697	.	1.602880	0.03170	N	0.170660	T	0.00039	0.0001	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41875	-0.9484	10	0.02654	T	1	3.734	4.3373	0.11092	0.1723:0.2578:0.0:0.5699	rs56948780	915	A4D1E1	Z804B_HUMAN	I	915	ENSP00000329638:T915I	ENSP00000329638:T915I	T	+	2	0	ZNF804B	88802976	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.929000	0.28844	0.092000	0.17331	-0.254000	0.11334	ACT	C|0.964;T|0.036	0.036	strong		0.433	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88965040	C	T	88965040	3	4	22	1	0	0	0	0	1	0	0	0	18168	565	20	2	2758	2	ZNF804B	7	88965040	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	878	88965040	70173623	4264	9372										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88965992	88965992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagcagtcacctccctatTgctcatctacatcctctttc	3	16	4	0	rs115968745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:88965992T>G	ENST00000333190.4	+	4	4305	c.3696T>G	c.(3694-3696)atT>atG	p.I1232M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1232							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTCCCTATTGCTCATCTAC	0.468										HNSCC(36;0.09)			T|||	32	0.00638978	0.0212	0.0058	5008	,	,		20365	0.0		0.0	False		,,,				2504	0.0				p.I1232M		Atlas-SNP	.											.	ZNF804B	322	.	0			c.T3696G						PASS	.	T	MET/ILE	63,4343	59.3+/-96.0	0,63,2140	209	180	190		3696	-9.7	0.4	7	dbSNP_132	190	0,8600		0,0,4300	yes	missense	ZNF804B	NM_181646.2	10	0,63,6440	GG,GT,TT		0.0,1.4299,0.4844	possibly-damaging	1232/1350	88965992	63,12943	2203	4300	6503	SO:0001583	missense	219578	exon4			CCCTATTGCTCAT	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3696T>G	7.37:g.88965992T>G	ENSP00000329638:p.Ile1232Met	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	193	93	0.481865	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	T	8.308	0.821452	0.16678	0.014299	0.0	ENSG00000182348	ENST00000333190	T	0.05319	3.46	4.84	-9.68	0.00528	.	0.284991	0.30611	N	0.009243	T	0.02342	0.0072	L	0.51422	1.61	0.09310	N	1	D	0.56035	0.974	P	0.48030	0.564	T	0.00807	-1.1558	10	0.56958	D	0.05	-13.7335	4.6179	0.12435	0.0977:0.4312:0.0933:0.3778	.	1232	A4D1E1	Z804B_HUMAN	M	1232	ENSP00000329638:I1232M	ENSP00000329638:I1232M	I	+	3	3	ZNF804B	88803928	0.240000	0.23847	0.392000	0.26245	0.014000	0.08584	-0.152000	0.10159	-1.527000	0.01758	-0.899000	0.02877	ATT	T|0.996;G|0.004	0.004	strong		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88965992	T	G	88965992	3	3	22	1	0	0	0	0	1	0	0	0	18168	1800	63	5	3710	5	ZNF804B	7	88965992	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	952	88965992	70172671	4265	9373										
C7orf63	79846	hgsc.bcm.edu	37	chr7	89906609	89906609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaagaaattactattcaaCgtaattgtgatcttatgtaa	6	4	2	3	rs3761805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:89906609C>T	ENST00000389297.4	+	11	1367	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	C7orf63_ENST00000316089.8_Silent_p.N372N|C7orf63_ENST00000497910.1_Silent_p.N354N	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		372										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACTATTCAACGTAATTGTGA	0.284													T|||	2022	0.403754	0.4206	0.3905	5008	,	,		16063	0.6855		0.2286	False		,,,				2504	0.2802				p.N372N		Atlas-SNP	.											C7orf63_ENST00000389297,colon,carcinoma,+2,2	C7orf63	158	2	0			c.C1116T						PASS	.	T	,	1262,2320		226,810,755	39	41	40		1116,1062	1.1	1	7	dbSNP_107	40	1491,6557		133,1225,2666	no	coding-synonymous,coding-synonymous	C7orf63	NM_001039706.2,NM_001160138.1	,	359,2035,3421	TT,TC,CC		18.5263,35.2317,23.6715	,	372/942,354/924	89906609	2753,8877	1791	4024	5815	SO:0001819	synonymous_variant	79846	exon11			ATTCAACGTAATT																												ENST00000389297.4:c.1116C>T	7.37:g.89906609C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	141	63	0.446809	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2																																																																																			C|0.602;T|0.398	0.398	strong		0.284	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89906609	C	T	89906609	2	4	22	1	0	0	0	0	0	0	0	1	2409	535	19	1		1	C7orf63	7	89906609	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	940617	89906609	69232054	4266	9374										
C7orf63	79846	hgsc.bcm.edu	37	chr7	89933362	89933362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaactgcccatctattgcGgttatggatgtttctgagaa	10	8	2	1	rs17867249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:89933362G>A	ENST00000389297.4	+	18	2381	c.2130G>A	c.(2128-2130)gcG>gcA	p.A710A	C7orf63_ENST00000497910.1_Silent_p.A692A|C7orf63_ENST00000316089.8_Intron	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		710										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATCTATTGCGGTTATGGATG	0.348													G|||	605	0.120807	0.2572	0.1196	5008	,	,		14843	0.1677		0.002	False		,,,				2504	0.0112				p.A710A		Atlas-SNP	.											.	C7orf63	158	.	0			c.G2130A						PASS	.	G	,	290,1094		28,234,430	171	158	162		2130,2076	-3.9	1	7	dbSNP_123	162	12,3170		0,12,1579	no	coding-synonymous,coding-synonymous	C7orf63	NM_001039706.2,NM_001160138.1	,	28,246,2009	AA,AG,GG		0.3771,20.9538,6.6141	,	710/942,692/924	89933362	302,4264	692	1591	2283	SO:0001819	synonymous_variant	79846	exon18			TATTGCGGTTATG																												ENST00000389297.4:c.2130G>A	7.37:g.89933362G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	105	42	0.4	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2	284	0.13003663003663005	144	0.2926829268292683	40	0.11049723756906077	99	0.17307692307692307	1	0.0013192612137203166	G	9.140	1.013602	0.19277	0.209538	0.003771	ENSG00000105792	ENST00000412839	.	.	.	5.57	-3.86	0.04230	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999998247	.	.	.	.	.	.	T	0.41288	-0.9517	3	.	.	.	-16.1843	0.4558	0.00508	0.2662:0.1645:0.2854:0.2839	rs17867249;rs58377189;rs17867249	.	.	.	S	5	.	.	G	+	1	0	C7orf63	89771298	0.953000	0.32496	0.951000	0.38953	0.873000	0.50193	0.010000	0.13242	-0.492000	0.06687	-0.982000	0.02568	GGT	G|0.865;A|0.135	0.135	strong		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			A	89933362	G	A	89933362	2	1	22	1	0	0	0	0	0	0	0	1	2409	1103	39	1		1	C7orf63	7	89933362	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26753	89933362	69205301	4267	9375										
GTPBP10	85865	hgsc.bcm.edu	37	chr7	89982132	89982132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcttttttttttaagtaTggaaatttcatcgataagct	5	5	2	0	rs6972561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:89982132T>C	ENST00000222511.6	+	2	102	c.36T>C	c.(34-36)taT>taC	p.Y12Y	GTPBP10_ENST00000257659.8_Silent_p.Y12Y	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTAAGTATGGAAATTTCA	0.368											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	1370	0.273562	0.3979	0.2536	5008	,	,		15695	0.244		0.2366	False		,,,				2504	0.1881				p.Y12Y		Atlas-SNP	.											.	GTPBP10	31	.	0			c.T36C						PASS	.	T	,	1521,2885	481.0+/-359.0	269,983,951	81	82	82		36,36	6.1	1	7	dbSNP_116	82	1671,6929	307.2+/-308.3	156,1359,2785	no	coding-synonymous,coding-synonymous	GTPBP10	NM_001042717.2,NM_033107.3	,	425,2342,3736	CC,CT,TT		19.4302,34.5211,24.5425	,	12/309,12/388	89982132	3192,9814	2203	4300	6503	SO:0001819	synonymous_variant	85865	exon2			TAAGTATGGAAAT		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.36T>C	7.37:g.89982132T>C		Somatic	37	0	0	1271	WXS	Illumina HiSeq	Phase_I	47	28	0.595745	NM_001042717	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Silent	SNP	ENST00000222511.6	37	CCDS5617.1																																																																																			T|0.731;C|0.269	0.269	strong		0.368	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		C	89982132	T	C	89982132	2	2	22	1	0	0	0	0	0	0	0	1	6879	1471	51	2		2	GTPBP10	7	89982132	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48770	89982132	69156531	4268	9376										
FZD1	8321	hgsc.bcm.edu	37	chr7	90895944	90895944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgctatcccctgccctcaCctccaggcgggcggaggcgc	12	18	1	0	rs2232161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:90895944C>T	ENST00000287934.2	+	1	2162	c.1749C>T	c.(1747-1749)caC>caT	p.H583H		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	583					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTGCCCTCACCTCCAGGCGG	0.637													C|||	85	0.0169728	0.0605	0.0072	5008	,	,		13904	0.0		0.0	False		,,,				2504	0.0				p.H583H		Atlas-SNP	.											FZD1,NS,carcinoma,0,2	FZD1	64	2	0			c.C1749T						PASS	.	C		238,4168	130.2+/-166.9	9,220,1974	30	28	29		1749	2.9	1	7	dbSNP_98	29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FZD1	NM_003505.1		9,221,6273	TT,TC,CC		0.0116,5.4017,1.8376		583/648	90895944	239,12767	2203	4300	6503	SO:0001819	synonymous_variant	8321	exon1			CCCTCACCTCCAG	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1749C>T	7.37:g.90895944C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_003505	A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	CCDS5620.1																																																																																			C|0.983;T|0.017	0.017	strong		0.637	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		T	90895944	C	T	90895944	2	4	22	1	0	0	0	0	0	0	0	1	6128	506	18	2		2	FZD1	7	90895944	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	913812	90895944	68242719	4269	9377										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91622249	91622249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaacaaggagcacaagaCagtccgactcatctagagat	9	10	3	3	rs138567837		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:91622249C>A	ENST00000359028.2	+	6	717	c.492C>A	c.(490-492)gaC>gaA	p.D164E	AKAP9_ENST00000358100.2_Missense_Mutation_p.D164E|AKAP9_ENST00000394564.1_Missense_Mutation_p.D152E|AKAP9_ENST00000356239.3_Missense_Mutation_p.D152E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	164					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGCACAAGACAGTCCGACTC	0.388			T	BRAF	papillary thyroid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		16096	0.0		0.0	False		,,,				2504	0.0				p.D152E		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.C456A						PASS	.	C	GLU/ASP,GLU/ASP	4,4402	8.1+/-20.4	0,4,2199	107	105	106		456,456	1.5	1	7	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense	AKAP9	NM_005751.4,NM_147185.2	45,45	0,4,6499	AA,AC,CC		0.0,0.0908,0.0308	benign,benign	152/3908,152/3900	91622249	4,13002	2203	4300	6503	SO:0001583	missense	10142	exon5			ACAAGACAGTCCG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.492C>A	7.37:g.91622249C>A	ENSP00000351922:p.Asp164Glu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	74	33	0.445946	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.491	1.100713	0.20552	9.08E-4	0.0	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.37	1.53	0.23141	.	0.681654	0.12148	N	0.495208	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.19817	0.013;0.01;0.039;0.005	B;B;B;B	0.15870	0.008;0.006;0.014;0.008	T	0.24584	-1.0156	10	0.30854	T	0.27	.	8.8667	0.35291	0.0:0.6341:0.0:0.3659	.	152;152;164;152	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	E	152;164;164;164;164;152;103	ENSP00000348573:D152E;ENSP00000351922:D164E;ENSP00000350813:D164E;ENSP00000378065:D152E;ENSP00000391704:D103E	ENSP00000348573:D152E	D	+	3	2	AKAP9	91460185	0.943000	0.32029	0.981000	0.43875	0.717000	0.41224	0.068000	0.14531	0.061000	0.16311	-0.150000	0.13652	GAC	C|1.000;A|0.000	0.000	strong		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91622249	C	A	91622249	3	1	22	1	0	0	0	0	1	0	0	0	459	477	17	4	474	4	AKAP9	7	91622249	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	726305	91622249	67516414	4270	9378										
CYP51A1	1595	hgsc.bcm.edu	37	chr7	91743072	91743072	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaagtatccatcaatgagAtcaaattcatataaacgaag	7	6	3	1	rs149576331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:91743072A>G	ENST00000003100.8	-	10	1602	c.1437T>C	c.(1435-1437)gaT>gaC	p.D479D	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.D374D	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	473					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CATCAATGAGATCAAATTCAT	0.343													A|||	7	0.00139776	0.0053	0.0	5008	,	,		16883	0.0		0.0	False		,,,				2504	0.0				p.D479D	GBM(70;1100 1190 11592 25836 51397)	Atlas-SNP	.											.	CYP51A1	30	.	0			c.T1437C						PASS	.	A	,	6,4400	11.4+/-27.6	0,6,2197	109	107	108		1437,1122	4	1	7	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CYP51A1	NM_000786.3,NM_001146152.1	,	0,6,6497	GG,GA,AA		0.0,0.1362,0.0461	,	479/510,374/405	91743072	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1595	exon10			AATGAGATCAAAT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1437T>C	7.37:g.91743072A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	153	74	0.48366	NM_000786	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Silent	SNP	ENST00000003100.8	37	CCDS5623.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	A	14.66	2.600307	0.46423	0.001362	0.0	ENSG00000001630	ENST00000422867	.	.	.	5.1	3.96	0.45880	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	3.9644	0.09424	0.6788:0.0:0.1664:0.1548	.	.	.	.	P	192	.	.	S	-	1	0	CYP51A1	91581008	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.350000	0.20079	0.977000	0.38444	0.482000	0.46254	TCT	A|0.999;G|0.001	0.001	strong		0.343	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			G	91743072	A	G	91743072	2	3	22	1	0	0	0	0	0	0	0	1	4195	330	12	2		2	CYP51A1	7	91743072	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	120823	91743072	67395591	4271	9379										
KRIT1	889	hgsc.bcm.edu	37	chr7	91842554	91842554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccttttatattcactccTacatacacagggatgacttt	5	10	1	1	rs11542682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:91842554T>C	ENST00000340022.2	-	17	2998	c.1980A>G	c.(1978-1980)gtA>gtG	p.V660V	KRIT1_ENST00000394507.1_Silent_p.V660V|KRIT1_ENST00000412043.2_Silent_p.V660V|KRIT1_ENST00000394505.2_Silent_p.V660V|KRIT1_ENST00000394503.2_Silent_p.V612V	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	660	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V660V(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATTCACTCCTACATACACAG	0.363													t|||	904	0.180511	0.1589	0.1239	5008	,	,		18715	0.3403		0.0825	False		,,,				2504	0.1861				p.V660V		Atlas-SNP	.											KRIT1,NS,carcinoma,0,1	KRIT1	66	1	1	Substitution - coding silent(1)	stomach(1)	c.A1980G						PASS	.	G	,,,,	536,3870	243.4+/-253.1	40,456,1707	159	149	152		1836,1980,1980,1980,1980	-0.2	1	7	dbSNP_120	152	795,7805	186.0+/-233.6	39,717,3544	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KRIT1	NM_001013406.1,NM_004912.3,NM_194454.1,NM_194455.1,NM_194456.1	,,,,	79,1173,5251	CC,CT,TT		9.2442,12.1652,10.2337	,,,,	612/689,660/737,660/737,660/737,660/737	91842554	1331,11675	2203	4300	6503	SO:0001819	synonymous_variant	889	exon18			CACTCCTACATAC	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1980A>G	7.37:g.91842554T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_194456	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	CCDS5624.1																																																																																			T|0.867;C|0.133	0.133	strong		0.363	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			C	91842554	T	C	91842554	2	2	22	1	0	0	0	0	0	0	0	1	8445	1509	53	3		3	KRIT1	7	91842554	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99482	91842554	67296109	4272	9380										
ANKIB1	54467	hgsc.bcm.edu	37	chr7	92027537	92027537	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcttcaggctctgagttcCttggatgaagacgatcccaa	10	10	2	3	rs1861635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:92027537C>G	ENST00000265742.3	+	20	2920	c.2544C>G	c.(2542-2544)tcC>tcG	p.S848S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	848							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCTGAGTTCCTTGGATGAAG	0.398													C|||	775	0.154752	0.0643	0.1167	5008	,	,		16849	0.3413		0.0845	False		,,,				2504	0.184				p.S848S		Atlas-SNP	.											.	ANKIB1	92	.	0			c.C2544G						PASS	.	C		219,3475		1,217,1629	66	60	61		2544	5	1	7	dbSNP_92	61	788,7438		46,696,3371	no	coding-synonymous	ANKIB1	NM_019004.1		47,913,5000	GG,GC,CC		9.5794,5.9285,8.448		848/1090	92027537	1007,10913	1847	4113	5960	SO:0001819	synonymous_variant	54467	exon20			GAGTTCCTTGGAT	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2544C>G	7.37:g.92027537C>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	120	63	0.525	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	CCDS47639.1																																																																																			C|0.845;G|0.155	0.155	strong		0.398	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			G	92027537	C	G	92027537	2	3	22	1	0	0	0	0	0	0	0	1	630	668	24	4		4	ANKIB1	7	92027537	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	184983	92027537	67111126	4273	9381										
PEX1	5189	hgsc.bcm.edu	37	chr7	92118654	92118654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactaatggatggtcttgtGtgaccaagtgcagtcattaa	10	7	3	1	rs34825053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:92118654G>A	ENST00000248633.4	-	23	3815	c.3720C>T	c.(3718-3720)caC>caT	p.H1240H	AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000428214.1_Silent_p.H1183H|PEX1_ENST00000438045.1_Silent_p.H918H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1240					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGGTCTTGTGTGACCAAGTG	0.388													G|||	21	0.00419329	0.0151	0.0014	5008	,	,		15394	0.0		0.0	False		,,,				2504	0.0				p.H1240H		Atlas-SNP	.											.	PEX1	102	.	0			c.C3720T						PASS	.	G		71,4335	64.1+/-101.4	1,69,2133	144	115	125		3720	2.3	0.9	7	dbSNP_126	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX1	NM_000466.2		1,70,6432	AA,AG,GG		0.0116,1.6114,0.5536		1240/1284	92118654	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	5189	exon23			TCTTGTGTGACCA	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3720C>T	7.37:g.92118654G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	140	61	0.435714	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																			G|0.992;A|0.008	0.008	strong		0.388	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		A	92118654	G	A	92118654	2	1	22	1	0	0	0	0	0	0	0	1	11735	1368	48	2		2	PEX1	7	92118654	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91117	92118654	67020009	4274	9382										
CDK6	1021	hgsc.bcm.edu	37	chr7	92462572	92462572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaacaccttcccataggcGccctccccgatctccgccac	6	20	1	1	rs189208543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:92462572G>A	ENST00000265734.4	-	2	477	c.66C>T	c.(64-66)ggC>ggT	p.G22G	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Silent_p.G22G	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCATAGGCGCCCTCCCCGA	0.706			T	MLLT10	ALL								G|||	7	0.00139776	0.0053	0.0	5008	,	,		13163	0.0		0.0	False		,,,				2504	0.0				p.G22G		Atlas-SNP	.		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	.	CDK6	30	.	0			c.C66T						PASS	.	G	,	1,4401		0,1,2200	26	19	21		66,66	2.5	1	7		21	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	CDK6	NM_001145306.1,NM_001259.6	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	22/327,22/327	92462572	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1021	exon2			ATAGGCGCCCTCC		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.66C>T	7.37:g.92462572G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	94	45	0.478723	NM_001259	A4D1G0	Silent	SNP	ENST00000265734.4	37	CCDS5628.1																																																																																			G|0.998;A|0.002	0.002	strong		0.706	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			A	92462572	G	A	92462572	2	1	22	1	0	0	0	0	0	0	0	1	3148	1074	38	1		1	CDK6	7	92462572	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	343918	92462572	66676091	4275	9383										
CCDC132	55610	hgsc.bcm.edu	37	chr7	92926102	92926102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttggaactgatttgtctAtattcaaatatgatgatttc	7	5	2	3	rs374290264		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:92926102A>G	ENST00000305866.5	+	15	1344	c.1216A>G	c.(1216-1218)Ata>Gta	p.I406V	CCDC132_ENST00000317751.6_Missense_Mutation_p.I137V|CCDC132_ENST00000535481.1_Missense_Mutation_p.I126V|CCDC132_ENST00000544910.1_Missense_Mutation_p.I376V|CCDC132_ENST00000541136.1_Missense_Mutation_p.I217V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	406						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)			TGATTTGTCTATATTCAAATA	0.294																																					p.I406V		Atlas-SNP	.											.	CCDC132	136	.	0			c.A1216G						PASS	.	A	VAL/ILE	2,3616		0,2,1807	89	86	87		1216	4.8	1	7		87	0,8124		0,0,4062	no	missense	CCDC132	NM_017667.2	29	0,2,5869	GG,GA,AA		0.0,0.0553,0.017	benign	406/965	92926102	2,11740	1809	4062	5871	SO:0001583	missense	55610	exon15			TTGTCTATATTCA	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.1216A>G	7.37:g.92926102A>G	ENSP00000307666:p.Ile406Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_017667	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065336	0.20067	5.53E-4	0.0	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.41065	1.01	4.82	4.82	0.62117	.	0.178206	0.47455	D	0.000238	T	0.22205	0.0535	N	0.03608	-0.345	0.27582	N	0.949545	B;B;B	0.12630	0.001;0.006;0.0	B;B;B	0.10450	0.001;0.005;0.0	T	0.10800	-1.0614	10	0.30078	T	0.28	-3.5357	14.7032	0.69168	1.0:0.0:0.0:0.0	.	126;376;406	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	V	406;376;217;126;137	ENSP00000325582:I137V	ENSP00000307666:I406V	I	+	1	0	CCDC132	92764038	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.164000	0.77533	1.951000	0.56629	0.455000	0.32223	ATA	.	.	weak		0.294	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92926102	A	G	92926102	3	3	22	1	0	0	0	0	1	0	0	0	2767	449	16	2	1316	2	CCDC132	7	92926102	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	463530	92926102	66212561	4276	9384										
COL1A2	1278	hgsc.bcm.edu	37	chr7	94027699	94027699	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttattcttttctaggaaacTgtaagaaaggtaagagtaca	8	4	2	2	rs1801182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94027699T>C	ENST00000297268.6	+	3	558	c.87T>C	c.(85-87)acT>acC	p.T29T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	29					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTAGGAAACTGTAAGAAAGG	0.244										HNSCC(75;0.22)			T|||	1027	0.205072	0.4183	0.0562	5008	,	,		12928	0.3502		0.0189	False		,,,				2504	0.0644				p.T29T		Atlas-SNP	.											.	COL1A2	240	.	0			c.T87C						PASS	.	T		1051,2703		127,797,953	7	8	8		87	1	0.9	7	dbSNP_89	8	80,7750		2,76,3837	no	coding-synonymous	COL1A2	NM_000089.3		129,873,4790	CC,CT,TT		1.0217,27.9968,9.7635		29/1367	94027699	1131,10453	1877	3915	5792	SO:0001819	synonymous_variant	1278	exon3			GGAAACTGTAAGA	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.87T>C	7.37:g.94027699T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																			T|0.823;C|0.177	0.177	strong		0.244	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94027699	T	C	94027699	2	2	22	1	0	0	0	0	0	0	0	1	3678	1567	55	3		3	COL1A2	7	94027699	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1101597	94027699	65110964	4277	9385										
COL1A2	1278	hgsc.bcm.edu	37	chr7	94028386	94028386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccggagatagaggaccacGtggagaaagggtgtgtaatt	16	5	0	3	rs139528613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94028386G>A	ENST00000297268.6	+	4	593	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	41					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R41L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGAGGACCACGTGGAGAAAGG	0.373										HNSCC(75;0.22)			G|||	15	0.00299521	0.0113	0.0	5008	,	,		15654	0.0		0.0	False		,,,				2504	0.0				p.R41H		Atlas-SNP	.											.	COL1A2	240	.	1	Substitution - Missense(1)	lung(1)	c.G122A						PASS	.	G	HIS/ARG	54,4352	54.2+/-90.2	0,54,2149	125	124	125		122	5.8	1	7	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL1A2	NM_000089.3	29	0,55,6448	AA,AG,GG		0.0116,1.2256,0.4229	probably-damaging	41/1367	94028386	55,12951	2203	4300	6503	SO:0001583	missense	1278	exon4			GACCACGTGGAGA	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.122G>A	7.37:g.94028386G>A	ENSP00000297268:p.Arg41His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	19.99	3.928117	0.73327	0.012256	1.16E-4	ENSG00000164692	ENST00000297268	D	0.93712	-3.27	5.85	5.85	0.93711	.	.	.	.	.	D	0.93350	0.7880	L	0.55103	1.725	0.43430	D	0.995594	D;D	0.69078	0.997;0.994	D;P	0.63033	0.91;0.727	D	0.93121	0.6525	9	0.72032	D	0.01	.	14.6939	0.69107	0.071:0.0:0.929:0.0	.	41;41	B4DTF5;P08123	.;CO1A2_HUMAN	H	41	ENSP00000297268:R41H	ENSP00000297268:R41H	R	+	2	0	COL1A2	93866322	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	2.827000	0.48112	2.941000	0.99782	0.655000	0.94253	CGT	G|0.996;A|0.004	0.004	strong		0.373	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94028386	G	A	94028386	3	1	22	1	0	0	0	0	1	0	0	0	3678	1145	40	1	136	1	COL1A2	7	94028386	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	687	94028386	65110277	4278	9386										
COL1A2	1278	hgsc.bcm.edu	37	chr7	94030899	94030899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactttgctgctcagtatgaTggaaaaggagttggacttgg	13	5	1	1	rs1800222|rs74315131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94030899T>C	ENST00000297268.6	+	6	717	c.246T>C	c.(244-246)gaT>gaC	p.D82D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	82			Missing (in EDS7B). {ECO:0000269|PubMed:1577745, ECO:0000269|PubMed:2394758, ECO:0000269|PubMed:3680255}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCAGTATGATGGAAAAGGAG	0.279										HNSCC(75;0.22)			T|||	1524	0.304313	0.5741	0.1729	5008	,	,		9153	0.3948		0.1491	False		,,,				2504	0.0992				p.D82D		Atlas-SNP	.											.	COL1A2	240	.	0			c.T246C						PASS	.	T		2218,2188	589.6+/-387.2	560,1098,545	108	113	112		246	3.3	0.5	7	dbSNP_89	112	1060,7540	222.7+/-259.7	70,920,3310	no	coding-synonymous	COL1A2	NM_000089.3		630,2018,3855	CC,CT,TT		12.3256,49.6596,25.2038		82/1367	94030899	3278,9728	2203	4300	6503	SO:0001819	synonymous_variant	1278	exon6			GTATGATGGAAAA	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.246T>C	7.37:g.94030899T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																			T|0.716;C|0.284	0.284	strong		0.279	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94030899	T	C	94030899	2	2	22	1	0	0	0	0	0	0	0	1	3678	1461	51	2		2	COL1A2	7	94030899	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2513	94030899	65107764	4279	9387										
COL1A2	1278	hgsc.bcm.edu	37	chr7	94057007	94057007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggttatgactttggttaCgatggagacttctacagggc	14	6	1	2	rs34691365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94057007C>T	ENST00000297268.6	+	49	3807	c.3336C>T	c.(3334-3336)taC>taT	p.Y1112Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1112					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTTGGTTACGATGGAGACT	0.547										HNSCC(75;0.22)			C|||	27	0.00539137	0.0197	0.0	5008	,	,		18009	0.0		0.001	False		,,,				2504	0.0				p.Y1112Y		Atlas-SNP	.											.	COL1A2	240	.	0			c.C3336T						PASS	.	C		58,4348	56.2+/-92.4	1,56,2146	96	97	97		3336	-4.7	0.1	7	dbSNP_126	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL1A2	NM_000089.3		1,57,6445	TT,TC,CC		0.0116,1.3164,0.4536		1112/1367	94057007	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	1278	exon49			TGGTTACGATGGA	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3336C>T	7.37:g.94057007C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	132	67	0.507576	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																			C|0.995;T|0.005	0.005	strong		0.547	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94057007	C	T	94057007	2	4	22	1	0	0	0	0	0	0	0	1	3678	547	19	1		1	COL1A2	7	94057007	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26108	94057007	65081656	4280	9388										
PPP1R9A	55607	hgsc.bcm.edu	37	chr7	94540416	94540416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtgctgaaagtaaggcaAtgccaaagtccgaaatccct	9	10	0	1	rs10230714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94540416A>G	ENST00000433881.1	+	2	1523	c.991A>G	c.(991-993)Atg>Gtg	p.M331V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M331V|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.M331V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M331V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M331V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M331V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	331			M -> V (in dbSNP:rs10230714). {ECO:0000269|PubMed:15489334}.		actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGTAAGGCAATGCCAAAGTC	0.478										HNSCC(28;0.073)			A|||	999	0.199481	0.3525	0.1455	5008	,	,		21564	0.2183		0.0507	False		,,,				2504	0.1646				p.M331V		Atlas-SNP	.											.	PPP1R9A	264	.	0			c.A991G						PASS	.	A	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	1416,2990	462.1+/-353.1	234,948,1021	81	83	83		991,991,991,991,991	0.3	0.1	7	dbSNP_119	83	360,8240	120.4+/-179.7	4,352,3944	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	21,21,21,21,21	238,1300,4965	GG,GA,AA		4.186,32.138,13.6552	benign,benign,benign,benign,benign	331/1375,331/1297,331/1254,331/1091,331/1099	94540416	1776,11230	2203	4300	6503	SO:0001583	missense	55607	exon2			AAGGCAATGCCAA	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.991A>G	7.37:g.94540416A>G	ENSP00000398870:p.Met331Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_017650	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	354	0.1620879120879121	161	0.32723577235772355	46	0.1270718232044199	113	0.19755244755244755	34	0.044854881266490766	A	0.011	-1.732466	0.00687	0.32138	0.04186	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.44	0.326	0.15908	.	0.531499	0.21465	N	0.074100	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.06899	-1.0801	8	.	.	.	.	5.1681	0.15096	0.5831:0.0:0.2888:0.1281	rs10230714;rs61628310;rs10230714	331;331;331;331;331	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	V	331	ENSP00000405514:M331V;ENSP00000344524:M331V;ENSP00000411342:M331V;ENSP00000398870:M331V;ENSP00000289495:M331V;ENSP00000402893:M331V	.	M	+	1	0	PPP1R9A	94378352	0.105000	0.21958	0.091000	0.20842	0.104000	0.19210	0.585000	0.23879	-0.028000	0.13850	-0.256000	0.11100	ATG	A|0.847;G|0.153	0.153	strong		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		G	94540416	A	G	94540416	3	3	22	1	0	0	0	0	1	0	0	0	12378	101	4	2	993	2	PPP1R9A	7	94540416	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	483409	94540416	64598247	4281	9389										
PON1	5444	hgsc.bcm.edu	37	chr7	94937446	94937446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaatacatctcccaggatTgtaagtaggggtcaagaaaa	9	8	2	1	rs662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:94937446T>C	ENST00000222381.3	-	6	806	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	PON1_ENST00000542556.1_Missense_Mutation_p.Q192R	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	192			Q -> R (polymorphism important for activity; dbSNP:rs662). {ECO:0000269|PubMed:1657140, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:7916578, ECO:0000269|PubMed:8098250, ECO:0000269|PubMed:8393742, ECO:0000269|PubMed:8393745, ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.Q192R(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTCCCAGGATTGTAAGTAGGG	0.398													C|||	2719	0.542931	0.7526	0.4986	5008	,	,		16184	0.6657		0.2903	False		,,,				2504	0.4243				p.Q192R	GBM(119;715 1622 17358 22490 33240)	Atlas-SNP	.											PON1,NS,carcinoma,0,1	PON1	55	1	1	Substitution - Missense(1)	stomach(1)	c.A575G	GRCh37	CM930596	PON1	M	rs662	PASS	.	C	ARG/GLN	2910,1496	475.5+/-357.3	958,994,251	130	108	116	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	575	-1	0	7	dbSNP_36	116	2451,6149	698.1+/-405.0	360,1731,2209	yes	missense	PON1	NM_000446.5	43	1318,2725,2460	CC,CT,TT		28.5,33.9537,41.2194	benign	192/356	94937446	5361,7645	2203	4300	6503	SO:0001583	missense	5444	exon6			CAGGATTGTAAGT	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.575A>G	7.37:g.94937446T>C	ENSP00000222381:p.Gln192Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	1127	0.5160256410256411	368	0.7479674796747967	172	0.47513812154696133	367	0.6416083916083916	220	0.29023746701846964	C	0.090	-1.168995	0.01660	0.660463	0.285	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.45276	0.9;0.9	5.04	-1.02	0.10135	Six-bladed beta-propeller, TolB-like (1);	0.663414	0.14660	N	0.306026	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33189	-0.9878	9	0.09084	T	0.74	-0.0356	8.8215	0.35030	0.1205:0.2374:0.0:0.6421	rs662;rs11567868;rs13306697;rs17773773;rs60480675;rs662	192;192	F5H4W9;P27169	.;PON1_HUMAN	R	192	ENSP00000222381:Q192R;ENSP00000444854:Q192R	ENSP00000222381:Q192R	Q	-	2	0	PON1	94775382	0.000000	0.05858	0.001000	0.08648	0.185000	0.23345	-1.304000	0.02741	-0.587000	0.05890	-0.215000	0.12644	CAA	T|0.544;C|0.456	0.456	strong		0.398	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		C	94937446	T	C	94937446	3	2	22	1	0	0	0	0	1	0	0	0	12248	1812	63	2	508	2	PON1	7	94937446	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	397030	94937446	64201217	4282	9390										
PON2	5445	hgsc.bcm.edu	37	chr7	95039394	95039394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagaaatgtgccggtccaaCagctgtgatgtcattcacac	9	10	2	2	rs17876152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:95039394C>G	ENST00000222572.3	-	6	760	c.514G>C	c.(514-516)Gtt>Ctt	p.V172L	PON2_ENST00000536183.1_Missense_Mutation_p.V193L|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.V160L			Q15165	PON2_HUMAN	paraoxonase 2	172			V -> L (in dbSNP:rs17876152). {ECO:0000269|Ref.5}.		aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCCGGTCCAACAGCTGTGATG	0.358													C|||	54	0.0107827	0.0378	0.0014	5008	,	,		15286	0.0		0.002	False		,,,				2504	0.001				p.V172L	GBM(42;803 823 13649 23368 31463)	Atlas-SNP	.											.	PON2	32	.	0			c.G514C						PASS	.	C	LEU/VAL,LEU/VAL	149,4257	104.3+/-142.8	2,145,2056	82	78	79		514,478	5	1	7	dbSNP_124	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PON2	NM_000305.2,NM_001018161.1	32,32	2,147,6354	GG,GC,CC		0.0233,3.3818,1.161	benign,benign	172/355,160/343	95039394	151,12855	2203	4300	6503	SO:0001583	missense	5445	exon6			GTCCAACAGCTGT	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.514G>C	7.37:g.95039394C>G	ENSP00000222572:p.Val172Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_000305	A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	CCDS5640.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	C	9.490	1.100457	0.20552	0.033818	2.33E-4	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.40756	2.27;1.02;2.27	4.97	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.58302	1.8	0.51767	D	0.999939	B;B	0.12013	0.005;0.005	B;B	0.18263	0.021;0.021	T	0.03240	-1.1057	10	0.20519	T	0.43	-18.3381	10.5089	0.44849	0.0:0.7892:0.1357:0.0752	rs17876152;rs58276578	172;172	A4D1H7;Q15165	.;PON2_HUMAN	L	193;170;160;172	ENSP00000440282:V193L;ENSP00000404622:V160L;ENSP00000222572:V172L	ENSP00000222572:V172L	V	-	1	0	PON2	94877330	0.359000	0.24955	1.000000	0.80357	0.502000	0.33828	0.451000	0.21779	2.754000	0.94517	0.650000	0.86243	GTT	C|0.983;G|0.017	0.017	strong		0.358	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		G	95039394	C	G	95039394	3	3	22	1	0	0	0	0	1	0	0	0	12249	478	17	4	566	4	PON2	7	95039394	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101948	95039394	64099269	4283	9391										
DYNC1I1	1780	hgsc.bcm.edu	37	chr7	95499234	95499234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtgtcaaaggtcacccaAgtggatttcctgccaaggga	13	10	2	0	rs3757697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:95499234A>G	ENST00000324972.6	+	6	658	c.465A>G	c.(463-465)caA>caG	p.Q155Q	DYNC1I1_ENST00000537881.1_Silent_p.Q118Q|DYNC1I1_ENST00000457059.1_Silent_p.Q138Q|DYNC1I1_ENST00000447467.2_Silent_p.Q138Q|DYNC1I1_ENST00000437599.1_Silent_p.Q135Q|DYNC1I1_ENST00000359388.4_Silent_p.Q118Q	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	155					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGTCACCCAAGTGGATTTCC	0.458													a|||	609	0.121605	0.1104	0.0865	5008	,	,		20328	0.121		0.0805	False		,,,				2504	0.2045				p.Q155Q		Atlas-SNP	.											.	DYNC1I1	111	.	0			c.A465G						PASS	.	G	,,	492,3914	228.1+/-243.1	18,456,1729	140	126	130		414,354,465	-2.5	1	7	dbSNP_107	130	857,7743	194.9+/-240.2	37,783,3480	no	coding-synonymous,coding-synonymous,coding-synonymous	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	,,	55,1239,5209	GG,GA,AA		9.9651,11.1666,10.3721	,,	138/629,118/609,155/646	95499234	1349,11657	2203	4300	6503	SO:0001819	synonymous_variant	1780	exon6			CACCCAAGTGGAT	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.465A>G	7.37:g.95499234A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	139	68	0.489209	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	CCDS5644.1																																																																																			A|0.899;G|0.101	0.101	strong		0.458	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		G	95499234	A	G	95499234	2	3	22	1	0	0	0	0	0	0	0	1	4842	69	3	3		3	DYNC1I1	7	95499234	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	459840	95499234	63639429	4284	9392										
SLC25A13	10165	hgsc.bcm.edu	37	chr7	95820500	95820500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttccatgttgttaaggagCgaattaaatccattaaaata	7	5	0	0	rs78247004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:95820500C>T	ENST00000265631.5	-	7	811	c.675G>A	c.(673-675)tcG>tcA	p.S225S	SLC25A13_ENST00000416240.2_Silent_p.S225S|SLC25A13_ENST00000542654.1_Silent_p.S117S			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	225					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGTTAAGGAGCGAATTAAATC	0.368													C|||	58	0.0115815	0.0439	0.0	5008	,	,		16454	0.0		0.0	False		,,,				2504	0.0				p.S225S		Atlas-SNP	.											SLC25A13,NS,carcinoma,-1,2	SLC25A13	131	2	0			c.G675A						PASS	.	C	,	161,4245	108.6+/-147.0	4,153,2046	147	145	146		675,675	-10.4	0.1	7	dbSNP_132	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC25A13	NM_001160210.1,NM_014251.2	,	4,153,6346	TT,TC,CC		0.0,3.6541,1.2379	,	225/677,225/676	95820500	161,12845	2203	4300	6503	SO:0001819	synonymous_variant	10165	exon7			AAGGAGCGAATTA	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.675G>A	7.37:g.95820500C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_001160210	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	CCDS5645.1																																																																																			C|0.985;T|0.015	0.015	strong		0.368	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		T	95820500	C	T	95820500	2	4	22	1	0	0	0	0	0	0	0	1	14475	755	27	1		1	SLC25A13	7	95820500	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	321266	95820500	63318163	4285	9393										
LMTK2	22853	hgsc.bcm.edu	37	chr7	97822990	97822990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggtctgcctcccaacccGgtcattgtcatctcagatgc	9	15	4	1	rs56064038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:97822990G>A	ENST00000297293.5	+	11	3506	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1071					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCCCAACCCGGTCATTGTCA	0.632													G|||	76	0.0151757	0.0567	0.0014	5008	,	,		17179	0.0		0.0	False		,,,				2504	0.0				p.P1071P		Atlas-SNP	.											.	LMTK2	228	.	0			c.G3213A						PASS	.	G		192,4214	118.8+/-156.5	3,186,2014	34	33	34		3213	-10.7	0.1	7	dbSNP_129	34	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	LMTK2	NM_014916.3		3,189,6311	AA,AG,GG		0.0349,4.3577,1.4993		1071/1504	97822990	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	22853	exon11			CAACCCGGTCATT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3213G>A	7.37:g.97822990G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_014916	A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																			G|0.985;A|0.015	0.015	strong		0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97822990	G	A	97822990	2	1	22	1	0	0	0	0	0	0	0	1	8859	1103	39	1		1	LMTK2	7	97822990	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2002490	97822990	61315673	4286	9394										
TECPR1	25851	hgsc.bcm.edu	37	chr7	97847040	97847040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccgtggcccttgggctcGtgaggctgcacgccggtgcg	17	14	0	1	rs2279676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:97847040G>A	ENST00000447648.2	-	25	3647	c.3348C>T	c.(3346-3348)caC>caT	p.H1116H	TECPR1_ENST00000379795.3_Silent_p.H1118H			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1116					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTTGGGCTCGTGAGGCTGCA	0.667													G|||	1040	0.207668	0.2156	0.2882	5008	,	,		16670	0.2589		0.1879	False		,,,				2504	0.1074				p.H1116H		Atlas-SNP	.											TECPR1,colon,carcinoma,0,1	TECPR1	77	1	0			c.C3348T						PASS	.	G		632,3406		41,550,1428	12	16	15		3348	-9.1	0	7	dbSNP_100	15	1048,6808		57,934,2937	no	coding-synonymous	TECPR1	NM_015395.1		98,1484,4365	AA,AG,GG		13.3401,15.6513,14.1248		1116/1166	97847040	1680,10214	2019	3928	5947	SO:0001819	synonymous_variant	25851	exon25			GGGCTCGTGAGGC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3348C>T	7.37:g.97847040G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	121	66	0.545455	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			G|0.772;A|0.228	0.228	strong		0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97847040	G	A	97847040	2	1	22	1	0	0	0	0	0	0	0	1	15740	1136	40	1		1	TECPR1	7	97847040	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24050	97847040	61291623	4287	9395										
TECPR1	25851	hgsc.bcm.edu	37	chr7	97852399	97852399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccactcccctcggcacccGggctctccgggatgatggac	12	18	1	1	rs11762014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:97852399G>A	ENST00000447648.2	-	21	3130	c.2831C>T	c.(2830-2832)cCg>cTg	p.P944L	TECPR1_ENST00000379795.3_Missense_Mutation_p.P946L|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	944			P -> L (in dbSNP:rs11762014).		autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCGGCACCCGGGCTCTCCGG	0.677													G|||	1073	0.214257	0.2368	0.2896	5008	,	,		11014	0.2609		0.1889	False		,,,				2504	0.1084				p.P944L		Atlas-SNP	.											TECPR1,NS,carcinoma,0,1	TECPR1	77	1	0			c.C2831T						PASS	.	G	LEU/PRO	788,3258		72,644,1307	18	23	22		2831	4.1	0.9	7	dbSNP_120	22	1294,7022		103,1088,2967	yes	missense	TECPR1	NM_015395.1	98	175,1732,4274	AA,AG,GG		15.5604,19.476,16.8419	benign	944/1166	97852399	2082,10280	2023	4158	6181	SO:0001583	missense	25851	exon21			GCACCCGGGCTCT		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2831C>T	7.37:g.97852399G>A	ENSP00000404923:p.Pro944Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	123	71	0.577236	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	516	0.23626373626373626	131	0.266260162601626	89	0.24585635359116023	146	0.25524475524475526	150	0.19788918205804748	G	6.236	0.411705	0.11812	0.19476	0.155604	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.29917	1.55;1.55	4.05	4.05	0.47172	.	0.158707	0.30193	N	0.010183	T	0.00012	0.0000	L	0.40543	1.245	0.09310	P	0.9999979686	P	0.39181	0.663	B	0.21708	0.036	T	0.41088	-0.9528	9	0.18710	T	0.47	-12.739	12.3533	0.55161	0.0:0.1706:0.8294:0.0	rs11762014	944	Q7Z6L1	TCPR1_HUMAN	L	944;946	ENSP00000404923:P944L;ENSP00000369121:P946L	ENSP00000369121:P946L	P	-	2	0	TECPR1	97690335	0.473000	0.25878	0.902000	0.35471	0.173000	0.22820	1.236000	0.32683	2.561000	0.86390	0.561000	0.74099	CCG	G|0.777;A|0.223	0.223	strong		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97852399	G	A	97852399	3	1	22	1	0	0	0	0	1	0	0	0	15740	1116	39	1	690	1	TECPR1	7	97852399	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5359	97852399	61286264	4288	9396										
TECPR1	25851	hgsc.bcm.edu	37	chr7	97873994	97873994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcgggaaagtcgatggcGtacgtccacccctgaaacac	13	12	0	1	rs1874344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:97873994G>A	ENST00000447648.2	-	5	719	c.420C>T	c.(418-420)taC>taT	p.Y140Y	TECPR1_ENST00000542604.1_Silent_p.Y61Y|TECPR1_ENST00000379795.3_Silent_p.Y140Y			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	140					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTCGATGGCGTACGTCCACC	0.587													g|||	1513	0.302117	0.2126	0.3285	5008	,	,		18002	0.4534		0.2744	False		,,,				2504	0.2771				p.Y140Y		Atlas-SNP	.											TECPR1,NS,carcinoma,0,2	TECPR1	77	2	0			c.C420T						PASS	.	A		774,3230		69,636,1297	91	96	94		420	-3.8	0.4	7	dbSNP_92	94	1969,6335		244,1481,2427	no	coding-synonymous	TECPR1	NM_015395.1		313,2117,3724	AA,AG,GG		23.7115,19.3307,22.2863		140/1166	97873994	2743,9565	2002	4152	6154	SO:0001819	synonymous_variant	25851	exon5			GATGGCGTACGTC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.420C>T	7.37:g.97873994G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	52	27	0.519231	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			G|0.696;A|0.304	0.304	strong		0.587	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97873994	G	A	97873994	2	1	22	1	0	0	0	0	0	0	0	1	15740	1140	40	1		1	TECPR1	7	97873994	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21595	97873994	61264669	4289	9397										
TRRAP	8295	hgsc.bcm.edu	37	chr7	98558922	98558922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactatgggaatatctgcacGggcctagaagtgctgagctt	12	8	1	2	rs34983214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:98558922G>A	ENST00000359863.4	+	45	6716	c.6507G>A	c.(6505-6507)acG>acA	p.T2169T	TRRAP_ENST00000446306.3_Silent_p.T2150T|TRRAP_ENST00000355540.3_Silent_p.T2151T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2169	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATATCTGCACGGGCCTAGAAG	0.507													G|||	32	0.00638978	0.0219	0.0029	5008	,	,		14881	0.0		0.001	False		,,,				2504	0.0				p.T2169T		Atlas-SNP	.											.	TRRAP	863	.	0			c.G6507A						PASS	.	G		78,4328	68.1+/-105.8	0,78,2125	162	161	162		6453	-10.9	0	7	dbSNP_126	162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRRAP	NM_003496.3		0,80,6423	AA,AG,GG		0.0233,1.7703,0.6151		2151/3831	98558922	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	8295	exon45			CTGCACGGGCCTA	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6507G>A	7.37:g.98558922G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_001244580	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	18	0.008241758241758242	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	7.407	0.633881	0.14322	0.017703	2.33E-4	ENSG00000196367	ENST00000456197	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37842	-0.9688	4	.	.	.	.	1.7278	0.02925	0.4473:0.1858:0.2241:0.1428	rs34983214	.	.	.	Q	1891	.	.	R	+	2	0	TRRAP	98396858	0.000000	0.05858	0.019000	0.16419	0.892000	0.51952	-2.537000	0.00939	-2.796000	0.00354	-0.136000	0.14681	CGG	G|0.993;A|0.007	0.007	strong		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98558922	G	A	98558922	2	1	22	1	0	0	0	0	0	0	0	1	16598	1103	39	1		1	TRRAP	7	98558922	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	684928	98558922	60579741	4290	9398										
ARPC1B	10095	hgsc.bcm.edu	37	chr7	98984354	98984354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtgcatatctatgaaaaGagcggtgccaaatggaccaa	12	7	1	2	rs1045012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:98984354G>C	ENST00000451682.1	+	5	420	c.111G>C	c.(109-111)aaG>aaC	p.K37N	ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K37N			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	37			K -> N (in dbSNP:rs1045012).		Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCTATGAAAAGAGCGGTGCCA	0.577													G|||	391	0.0780751	0.1778	0.0634	5008	,	,		21294	0.0327		0.0338	False		,,,				2504	0.046				p.K37N		Atlas-SNP	.											.	ARPC1B	41	.	0			c.G111C						PASS	.	G	ASN/LYS	688,3718	289.8+/-280.6	46,596,1561	186	161	169		111	5.2	1	7	dbSNP_86	169	359,8241	119.9+/-179.2	11,337,3952	yes	missense	ARPC1B	NM_005720.3	94	57,933,5513	CC,CG,GG		4.1744,15.6151,8.0501	benign	37/373	98984354	1047,11959	2203	4300	6503	SO:0001583	missense	10095	exon3			TGAAAAGAGCGGT	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.111G>C	7.37:g.98984354G>C	ENSP00000389631:p.Lys37Asn	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_005720	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	145	0.06639194139194139	70	0.14227642276422764	30	0.08287292817679558	18	0.03146853146853147	27	0.03562005277044855	G	12.54	1.969222	0.34754	0.156151	0.041744	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049416	0.85682	D	0.000000	T	0.00784	0.0026	M	0.81239	2.535	0.20403	P	0.9999050461	D;D	0.64830	0.994;0.994	D;D	0.64776	0.929;0.929	T	0.33163	-0.9879	9	0.24483	T	0.36	-37.4929	12.4073	0.55447	0.0777:0.0:0.9223:0.0	rs1045012;rs3174603;rs10341021;rs11556756;rs1045012	37;37	A4D275;O15143	.;ARC1B_HUMAN	N	37	ENSP00000413173:K37N;ENSP00000398620:K37N;ENSP00000252725:K37N;ENSP00000410238:K37N;ENSP00000413067:K37N;ENSP00000403324:K37N;ENSP00000398110:K37N;ENSP00000403211:K37N;ENSP00000388802:K37N;ENSP00000389631:K37N	ENSP00000252725:K37N	K	+	3	2	ARPC1B	98822290	1.000000	0.71417	0.996000	0.52242	0.069000	0.16628	1.437000	0.34991	2.577000	0.86979	0.561000	0.74099	AAG	G|0.926;C|0.074	0.074	strong		0.577	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		C	98984354	G	C	98984354	3	2	22	1	0	0	0	0	1	0	0	0	970	933	33	4	117	4	ARPC1B	7	98984354	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	425432	98984354	60154309	4291	9399										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99217424	99217424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcttagggagctccaggaGctctgtcgtcggtggctgag	16	10	2	1	rs10282706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99217424G>A	ENST00000394152.2	+	4	522	c.195G>A	c.(193-195)gaG>gaA	p.E65E	ZSCAN25_ENST00000334715.3_Silent_p.E65E|ZSCAN25_ENST00000262941.6_Silent_p.E65E|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	65	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										AGCTCCAGGAGCTCTGTCGTC	0.612													A|||	1722	0.34385	0.6914	0.1916	5008	,	,		18685	0.2817		0.0596	False		,,,				2504	0.3384				p.E65E		Atlas-SNP	.											.	.	.	.	0			c.G195A						PASS	.	A		2514,1892	542.5+/-376.0	714,1086,403	71	79	77		195	-0.9	1	7	dbSNP_119	77	674,7926	788.3+/-407.6	32,610,3658	no	coding-synonymous	ZNF498	NM_145115.2		746,1696,4061	AA,AG,GG		7.8372,42.9414,24.5118		65/545	99217424	3188,9818	2203	4300	6503	SO:0001819	synonymous_variant	221785	exon4			CCAGGAGCTCTGT	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.195G>A	7.37:g.99217424G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	119	118	0.991597	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	CCDS5671.2																																																																																			G|0.735;A|0.265	0.265	strong		0.612	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		A	99217424	G	A	99217424	2	1	22	1	0	0	0	0	0	0	0	1	17944	962	34	2		2	ZNF498	7	99217424	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	233070	99217424	59921239	4292	9400										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99226981	99226981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcagtgcgcctgggcttCctcctccccagcacggtgcc	12	18	0	0	rs10239632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99226981C>G	ENST00000394152.2	+	8	1300	c.973C>G	c.(973-975)Cct>Gct	p.P325A	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P325A|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P253A	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	325			P -> A (in dbSNP:rs10239632).		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)										GCCTGGGCTTCCTCCTCCCCA	0.627													C|||	185	0.0369409	0.1263	0.0216	5008	,	,		17584	0.0		0.003	False		,,,				2504	0.0				p.P325A		Atlas-SNP	.											.	.	.	.	0			c.C973G						PASS	.	C	ALA/PRO	449,3957	211.8+/-231.9	28,393,1782	59	54	56		973	2.7	0	7	dbSNP_119	56	7,8593	3.7+/-12.6	0,7,4293	yes	missense	ZNF498	NM_145115.2	27	28,400,6075	GG,GC,CC		0.0814,10.1906,3.5061	benign	325/545	99226981	456,12550	2203	4300	6503	SO:0001583	missense	221785	exon8			GGGCTTCCTCCTC	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.973C>G	7.37:g.99226981C>G	ENSP00000377708:p.Pro325Ala	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	58	35	0.603448	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	CCDS5671.2	82	0.037545787545787544	71	0.1443089430894309	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	C	0.010	-1.757120	0.00657	0.101906	8.14E-4	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08807	3.06;3.06;3.05	4.82	2.66	0.31614	.	0.503847	0.16909	N	0.194576	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.42616	-0.9441	9	0.09590	T	0.72	-0.7741	2.5036	0.04639	0.2459:0.4907:0.1618:0.1016	rs10239632;rs10239632	253;325	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	A	325;325;253	ENSP00000377708:P325A;ENSP00000334800:P325A;ENSP00000262941:P253A	ENSP00000262941:P253A	P	+	1	0	ZNF498	99064917	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.695000	0.25527	1.140000	0.42260	-0.502000	0.04539	CCT	C|0.966;G|0.034	0.034	strong		0.627	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		G	99226981	C	G	99226981	3	3	22	1	0	0	0	0	1	0	0	0	17944	855	30	4	991	4	ZNF498	7	99226981	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9557	99226981	59911682	4293	9401										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99227027	99227027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcctgacgaagtcaaaaCccacagctccttctggaagc	8	15	2	1	rs142120776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99227027C>T	ENST00000394152.2	+	8	1346	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T340I|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T268I	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	340					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)										GAAGTCAAAACCCACAGCTCC	0.617													C|||	14	0.00279553	0.0106	0.0	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0				p.T340I		Atlas-SNP	.											.	.	.	.	0			c.C1019T						PASS	.	C	ILE/THR	48,4358	47.5+/-82.1	0,48,2155	57	50	52		1019	3.9	0	7	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF498	NM_145115.2	89	0,49,6454	TT,TC,CC		0.0116,1.0894,0.3767	possibly-damaging	340/545	99227027	49,12957	2203	4300	6503	SO:0001583	missense	221785	exon8			TCAAAACCCACAG	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1019C>T	7.37:g.99227027C>T	ENSP00000377708:p.Thr340Ile	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	59	28	0.474576	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	CCDS5671.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	8.033	0.762232	0.15914	0.010894	1.16E-4	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.09073	3.03;3.03;3.02	3.89	3.89	0.44902	.	0.669254	0.13160	N	0.409125	T	0.03520	0.0101	N	0.11364	0.135	0.09310	N	1	B;B	0.26195	0.144;0.089	B;B	0.21546	0.025;0.035	T	0.35724	-0.9777	10	0.23891	T	0.37	-2.1444	14.1776	0.65552	0.0:1.0:0.0:0.0	.	268;340	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	I	340;340;268	ENSP00000377708:T340I;ENSP00000334800:T340I;ENSP00000262941:T268I	ENSP00000262941:T268I	T	+	2	0	ZNF498	99064963	0.017000	0.18338	0.018000	0.16275	0.514000	0.34195	1.627000	0.37050	2.454000	0.82982	0.561000	0.74099	ACC	C|0.998;T|0.002	0.002	strong		0.617	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		T	99227027	C	T	99227027	3	4	22	1	0	0	0	0	1	0	0	0	17944	507	18	2	1037	2	ZNF498	7	99227027	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46	99227027	59911636	4294	9402										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99227172	99227172	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggctttaccctgagagaAtacctgatgaagcaccagag	11	9	0	5	rs1859690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99227172A>G	ENST00000394152.2	+	8	1491	c.1164A>G	c.(1162-1164)gaA>gaG	p.E388E	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Silent_p.E316E|ZSCAN25_ENST00000334715.3_Silent_p.E388E	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	388					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)										CCCTGAGAGAATACCTGATGA	0.557													G|||	1736	0.346645	0.6899	0.1902	5008	,	,		19138	0.3046		0.0547	False		,,,				2504	0.3374				p.E388E		Atlas-SNP	.											.	.	.	.	0			c.A1164G						PASS	.	G		2507,1899	544.9+/-376.7	712,1083,408	78	75	76		1164	2.1	0.9	7	dbSNP_92	76	597,8003	793.0+/-407.5	26,545,3729	yes	coding-synonymous	ZNF498	NM_145115.2		738,1628,4137	GG,GA,AA		6.9419,43.1003,23.8659		388/545	99227172	3104,9902	2203	4300	6503	SO:0001819	synonymous_variant	221785	exon8			GAGAGAATACCTG	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1164A>G	7.37:g.99227172A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	CCDS5671.2																																																																																			A|0.737;G|0.263	0.263	strong		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		G	99227172	A	G	99227172	2	3	22	1	0	0	0	0	0	0	0	1	17944	98	4	2		2	ZNF498	7	99227172	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	145	99227172	59911491	4295	9403										
CYP3A5	1577	hgsc.bcm.edu	37	chr7	99262835	99262835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaccaaattttaggaacttCttagtgctctccacaaaggg	7	9	2	0	rs10264272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99262835C>T	ENST00000222982.4	-	7	723	c.624G>A	c.(622-624)aaG>aaA	p.K208K	CYP3A5_ENST00000343703.5_Silent_p.K198K|CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	208					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTAGGAACTTCTTAGTGCTCT	0.378													C|||	223	0.0445288	0.1543	0.0231	5008	,	,		18786	0.0		0.003	False		,,,				2504	0.0				p.K208K		Atlas-SNP	.											.	CYP3A5	46	.	0			c.G624A	GRCh37	CS015291	CYP3A5	S	rs10264272	PASS	.	C		530,3876	238.4+/-249.8	43,444,1716	113	108	110		624	2.9	0	7	dbSNP_119	110	7,8593	3.7+/-12.6	0,7,4293	no	coding-synonymous	CYP3A5	NM_000777.3		43,451,6009	TT,TC,CC		0.0814,12.0291,4.1289		208/503	99262835	537,12469	2203	4300	6503	SO:0001819	synonymous_variant	1577	exon7			GAACTTCTTAGTG	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.624G>A	7.37:g.99262835C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	160	72	0.45	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	CCDS5672.1																																																																																			C|0.952;T|0.048	0.048	strong		0.378	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			T	99262835	C	T	99262835	2	4	22	1	0	0	0	0	0	0	0	1	4180	912	32	2		2	CYP3A5	7	99262835	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35663	99262835	59875828	4296	9404										
CYP3A7	1551	hgsc.bcm.edu	37	chr7	99317993	99317993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcactgttttgatcatgtcGggatctgtgatagccagcat	11	8	2	2	rs45466796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99317993G>A	ENST00000336374.2	-	4	263	c.261C>T	c.(259-261)ccC>ccT	p.P87P		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	87					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGATCATGTCGGGATCTGTGA	0.388													G|||	111	0.0221645	0.0802	0.0072	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0				p.P87P		Atlas-SNP	.											.	CYP3A7	59	.	0			c.C261T						PASS	.	G		281,4125	156.3+/-189.4	8,265,1930	129	117	121		261	-2.8	0	7	dbSNP_127	121	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CYP3A7	NM_000765.3		8,267,6228	AA,AG,GG		0.0233,6.3777,2.1759		87/504	99317993	283,12723	2203	4300	6503	SO:0001819	synonymous_variant	1551	exon4			CATGTCGGGATCT	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.261C>T	7.37:g.99317993G>A		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	299	142	0.474916	NM_000765	A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	CCDS5673.1																																																																																			G|0.983;A|0.017	0.017	strong		0.388	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			A	99317993	G	A	99317993	2	1	22	1	0	0	0	0	0	0	0	1	4181	1103	39	1		1	CYP3A7	7	99317993	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55158	99317993	59820670	4297	9405										
CYP3A43	64816	hgsc.bcm.edu	37	chr7	99434078	99434078	+	Frame_Shift_Del	DEL	A	A	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcttttattttatagttAtgggacccattcacataaac					rs61469810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99434078delA	ENST00000354829.2	+	2	177	c.74delA	c.(73-75)tatfs	p.Y25fs	CYP3A43_ENST00000415413.1_Frame_Shift_Del_p.Y25fs|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Frame_Shift_Del_p.Y25fs|CYP3A43_ENST00000421837.2_Frame_Shift_Del_p.Y25fs|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000222382.5_Frame_Shift_Del_p.Y25fs|CYP3A43_ENST00000312017.5_Frame_Shift_Del_p.Y25fs	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	25			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TTTTATAGTTATGGGACCCAT	0.408													A|A|-|deletion	528	0.105431	0.3154	0.0447	5008	,	,		17588	0.001		0.0378	False		,,,				2504	0.0419				p.Y25fs		Pindel,Atlas-Indel	.											.	CYP3A43	52	.	0			c.73delT	GRCh37	CD040166	CYP3A43	D	rs61469810	PASS	.		,,	1069,3195		129,811,1192	58	71	67		,,	2.4	0.3	7	dbSNP_129	71	297,7957		9,279,3839	no	frameshift,frameshift,frameshift	CYP3A43	NM_057096.2,NM_057095.1,NM_022820.3	,,	138,1090,5031	A1A1,A1R,RR		3.5983,25.0704,10.9123	,,	,,	99434078	1366,11152	2088	4291	6379	SO:0001589	frameshift_variant	64816	exon2			.	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.74delA	7.37:g.99434078delA	ENSP00000346887:p.Tyr25fs	Somatic	109	.	.		WXS	Illumina HiSeq	Phase_I	98	32	0.327	NM_057095	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Frame_Shift_Del	DEL	ENST00000354829.2	37	CCDS5676.1																																																																																			A|0.903;-|0.097	0.097	strong		0.408	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			-	99434078	A	-	99434078	7	5	22	1	0	1	0	1	0	0	0	0	4179	449	16	0	80	0	CYP3A43	7	99434078	Frame_Shift_Del	DEL	A	TCGA-G8-6324-01A-11D-2210-10	116085	99434078	59704585	4298	9406										
CYP3A43	64816	hgsc.bcm.edu	37	chr7	99447241	99447241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttggattctctcaacaaTccacaagatccctttctgaa	4	12	3	2	rs800667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99447241T>C	ENST00000354829.2	+	7	697	c.594T>C	c.(592-594)aaT>aaC	p.N198N	CYP3A43_ENST00000222382.5_Silent_p.N198N|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.S61P|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.N198N|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	198			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTCTCAACAATCCACAAGATC	0.333													C|||	975	0.194688	0.5938	0.1009	5008	,	,		18347	0.001		0.0616	False		,,,				2504	0.0583				p.N198N		Atlas-SNP	.											.	CYP3A43	52	.	0			c.T594C						PASS	.	C	,,	2230,2176	585.0+/-386.2	552,1126,525	140	132	135		594,594,594	-3.2	0.6	7	dbSNP_86	135	593,8007	792.7+/-407.5	24,545,3731	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP3A43	NM_022820.3,NM_057095.1,NM_057096.2	,,	576,1671,4256	CC,CT,TT		6.8953,49.3872,21.7054	,,	198/505,198/504,198/421	99447241	2823,10183	2203	4300	6503	SO:0001819	synonymous_variant	64816	exon7			CAACAATCCACAA	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.594T>C	7.37:g.99447241T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	195	86	0.441026	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	CCDS5676.1	393	0.17994505494505494	306	0.6219512195121951	38	0.10497237569060773	1	0.0017482517482517483	48	0.0633245382585752	C	0.203	-1.042775	0.01997	0.506128	0.068953	ENSG00000021461	ENST00000342499;ENST00000379654	T	0.75477	-0.94	3.14	-3.15	0.05233	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.52501	P	4.8000000000048004E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	7	0.87932	D	0	.	6.0388	0.19722	0.1468:0.2312:0.0:0.622	rs800667;rs1403189;rs17161960;rs58499684;rs800667	61	F8W6L8	.	P	61;92	ENSP00000345351:S61P	ENSP00000345351:S61P	S	+	1	0	CYP3A43	99285177	0.411000	0.25384	0.601000	0.28877	0.201000	0.24016	-0.433000	0.06948	-0.896000	0.03915	-2.949000	0.00084	TCC	T|0.798;G|0.002	.	strong		0.333	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			C	99447241	T	C	99447241	2	2	22	1	0	0	0	0	0	0	0	1	4179	1432	50	2		2	CYP3A43	7	99447241	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13163	99447241	59691422	4299	9407										
CYP3A43	64816	hgsc.bcm.edu	37	chr7	99457605	99457605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagattgacgcagttttaCccaataaggtaaggggatga	13	5	0	3	rs680055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99457605C>G	ENST00000354829.2	+	10	1121	c.1018C>G	c.(1018-1020)Ccc>Gcc	p.P340A	CYP3A43_ENST00000415413.1_Missense_Mutation_p.P129A|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P200A|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P87A|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P230A|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P340A|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P340A	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	340			Missing (in allele CYP3A43*2).|P -> A (in allele CYP3A43*3; dbSNP:rs680055). {ECO:0000269|PubMed:14695544}.		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CGCAGTTTTACCCAATAAGGT	0.493													C|||	624	0.124601	0.3782	0.0519	5008	,	,		19594	0.002		0.0557	False		,,,				2504	0.0307				p.P340A		Atlas-SNP	.											.	CYP3A43	52	.	0			c.C1018G						PASS	.	C	ALA/PRO,ALA/PRO,ALA/PRO	1338,3068	447.9+/-348.5	190,958,1055	94	90	91		1018,1018,1018	1.6	0.7	7	dbSNP_83	91	420,8180	130.5+/-188.4	15,390,3895	yes	missense,missense,missense	CYP3A43	NM_022820.3,NM_057095.1,NM_057096.2	27,27,27	205,1348,4950	GG,GC,CC		4.8837,30.3677,13.5168	benign,benign,benign	340/505,340/504,340/421	99457605	1758,11248	2203	4300	6503	SO:0001583	missense	64816	exon10			GTTTTACCCAATA	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1018C>G	7.37:g.99457605C>G	ENSP00000346887:p.Pro340Ala	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	127	54	0.425197	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	263	0.12042124542124542	201	0.40853658536585363	22	0.06077348066298342	1	0.0017482517482517483	39	0.051451187335092345	C	9.485	1.099179	0.20552	0.303677	0.048837	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.79247	-0.31;-0.31;-0.31;-0.31;-1.25;-0.31;-0.31	2.49	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.47716	1.5	0.09310	P	0.9999999999379743	P;D;P;B;B	0.54207	0.899;0.965;0.946;0.015;0.015	P;P;P;B;B	0.57371	0.47;0.819;0.696;0.009;0.009	T	0.15607	-1.0431	9	0.59425	D	0.04	.	7.3043	0.26438	0.0:0.8526:0.0:0.1474	rs680055;rs60416653;rs680055	230;200;340;340;340	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	A	340;230;200;87;129;340;340	ENSP00000346887:P340A;ENSP00000416581:P230A;ENSP00000345351:P200A;ENSP00000405557:P87A;ENSP00000401521:P129A;ENSP00000312110:P340A;ENSP00000222382:P340A	ENSP00000222382:P340A	P	+	1	0	CYP3A43	99295541	0.981000	0.34729	0.667000	0.29798	0.365000	0.29674	4.142000	0.58044	0.586000	0.29626	0.205000	0.17691	CCC	C|0.863;G|0.137	0.137	strong		0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			G	99457605	C	G	99457605	3	3	22	1	0	0	0	0	1	0	0	0	4179	507	18	4	1056	4	CYP3A43	7	99457605	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10364	99457605	59681058	4300	9408										
CYP3A43	64816	hgsc.bcm.edu	37	chr7	99463556	99463556	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaattagacaatctaccaAttcttcaaccagaaaaacct	3	10	3	3	rs540214188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99463556A>T	ENST00000354829.2	+	13	1547	c.1444A>T	c.(1444-1446)Att>Ttt	p.I482F	CYP3A43_ENST00000222382.5_Missense_Mutation_p.I483F|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_3'UTR|CYP3A43_ENST00000415413.1_Missense_Mutation_p.I271F|CYP3A43_ENST00000417625.1_Missense_Mutation_p.I372F|CYP3A43_ENST00000312017.5_3'UTR|CYP3A43_ENST00000444905.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	482			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CAATCTACCAATTCTTCAACC	0.338													A|||	292	0.0583067	0.2035	0.0216	5008	,	,		18384	0.001		0.002	False		,,,				2504	0.0051				p.I483F		Atlas-SNP	.											.	CYP3A43	52	.	0			c.A1447T						PASS	.						87	97	93					7																	99463556		2184	4300	6484	SO:0001583	missense	64816	exon13			CTACCAATTCTTC	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1444A>T	7.37:g.99463556A>T	ENSP00000346887:p.Ile482Phe	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	75	12	0.16	NM_022820	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.321913	0.23994	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000415413;ENST00000222382	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	3.17	-6.34	0.01982	.	0.885559	0.09500	N	0.793766	T	0.24928	0.0605	N	0.01019	-1.045	0.22127	N	0.999348	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.15052	0.003;0.006;0.012	T	0.16541	-1.0399	10	0.23891	T	0.37	.	0.423	0.00459	0.3831:0.1534:0.2286:0.2349	.	372;483;482	Q495Y1;Q75MK2;Q9HB55	.;.;CP343_HUMAN	F	482;372;271;483	ENSP00000346887:I482F;ENSP00000416581:I372F;ENSP00000401521:I271F;ENSP00000222382:I483F	ENSP00000222382:I483F	I	+	1	0	CYP3A43	99301492	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-8.694000	0.00017	-2.343000	0.00623	0.172000	0.16884	ATT	.	.	none		0.338	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			T	99463556	A	T	99463556	3	4	22	1	0	0	0	0	1	0	0	0	4179	101	4	5	1497	5	CYP3A43	7	99463556	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5951	99463556	59675107	4301	9409										
OR2AE1	81392	hgsc.bcm.edu	37	chr7	99473801	99473801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggagagtataaatcagagAattcaatgtgggcgtaatga	12	5	2	3	rs73403577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99473801A>G	ENST00000316368.2	-	1	879	c.856T>C	c.(856-858)Tct>Cct	p.S286P		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TAAATCAGAGAATTCAATGTG	0.453													G|||	372	0.0742812	0.2557	0.0288	5008	,	,		20421	0.001		0.002	False		,,,				2504	0.0112				p.S286P		Atlas-SNP	.											OR2AE1,rectum,carcinoma,+1,1	OR2AE1	32	1	0			c.T856C						PASS	.	G	PRO/SER	952,3454	734.8+/-410.6	103,746,1354	112	116	115		856	2.7	0.2	7	dbSNP_130	115	22,8578	818.3+/-406.9	0,22,4278	yes	missense	OR2AE1	NM_001005276.1	74	103,768,5632	GG,GA,AA		0.2558,21.6069,7.4889	benign	286/324	99473801	974,12032	2203	4300	6503	SO:0001583	missense	81392	exon1			TCAGAGAATTCAA	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.856T>C	7.37:g.99473801A>G	ENSP00000313936:p.Ser286Pro	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	150	74	0.493333	NM_001005276	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	140	0.0641025641025641	127	0.258130081300813	12	0.03314917127071823	0	0.0	1	0.0013192612137203166	G	0.005	-2.228017	0.00280	0.216069	0.002558	ENSG00000244623	ENST00000316368	T	0.14516	2.5	3.56	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.201466	0.24843	N	0.035141	T	0.00012	0.0000	N	0.00081	-2.22	0.51012	P	9.099999999995223E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	9	0.02654	T	1	.	7.3678	0.26783	0.0999:0.1697:0.7304:0.0	.	286	Q8NHA4	O2AE1_HUMAN	P	286	ENSP00000313936:S286P	ENSP00000313936:S286P	S	-	1	0	OR2AE1	99311737	1.000000	0.71417	0.200000	0.23457	0.127000	0.20565	2.295000	0.43576	0.508000	0.28173	-3.352000	0.00042	TCT	A|0.933;G|0.067	0.067	strong		0.453	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			G	99473801	A	G	99473801	3	3	22	1	0	0	0	0	1	0	0	0	10983	246	9	2	119	2	OR2AE1	7	99473801	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10245	99473801	59664862	4302	9410										
OR2AE1	81392	hgsc.bcm.edu	37	chr7	99473858	99473858	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaactttgttctgcaataGagtgcactgggacctgggtc	11	10	1	1	rs17161997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99473858G>C	ENST00000316368.2	-	1	822	c.799C>G	c.(799-801)Cta>Gta	p.L267V		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	267			L -> V (in dbSNP:rs17161997).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTCTGCAATAGAGTGCACTGG	0.468													G|||	654	0.130591	0.3986	0.0591	5008	,	,		21809	0.001		0.0577	False		,,,				2504	0.0276				p.L267V		Atlas-SNP	.											.	OR2AE1	32	.	0			c.C799G						PASS	.	G	VAL/LEU	1449,2957	468.5+/-355.1	226,997,980	91	95	94		799	2	0	7	dbSNP_123	94	422,8178	130.8+/-188.7	15,392,3893	yes	missense	OR2AE1	NM_001005276.1	32	241,1389,4873	CC,CG,GG		4.907,32.887,14.3857	benign	267/324	99473858	1871,11135	2203	4300	6503	SO:0001583	missense	81392	exon1			GCAATAGAGTGCA	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.799C>G	7.37:g.99473858G>C	ENSP00000313936:p.Leu267Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	108	46	0.425926	NM_001005276	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	274	0.12545787545787546	206	0.4186991869918699	25	0.06906077348066299	1	0.0017482517482517483	42	0.055408970976253295	G	1.212	-0.629361	0.03610	0.32887	0.04907	ENSG00000244623	ENST00000316368	T	0.00091	8.74	3.84	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.202882	0.24674	N	0.036535	T	0.00012	0.0000	N	0.16862	0.45	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.09729	-1.0661	9	0.66056	D	0.02	.	11.9505	0.52952	0.0:0.3361:0.6639:0.0	rs17161997;rs17161997	267	Q8NHA4	O2AE1_HUMAN	V	267	ENSP00000313936:L267V	ENSP00000313936:L267V	L	-	1	2	OR2AE1	99311794	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.452000	0.21795	0.563000	0.29222	0.494000	0.49563	CTA	G|0.862;C|0.138	0.138	strong		0.468	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			C	99473858	G	C	99473858	3	2	22	1	0	0	0	0	1	0	0	0	10983	933	33	4	176	4	OR2AE1	7	99473858	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57	99473858	59664805	4303	9411										
OR2AE1	81392	hgsc.bcm.edu	37	chr7	99474007	99474007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactttgaaggatgaagacaTaggatgtagaaatcaggaag	12	4	1	4	rs60737583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99474007T>C	ENST00000316368.2	-	1	673	c.650A>G	c.(649-651)tAt>tGt	p.Y217C		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	217			Y -> C (in dbSNP:rs60737583).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GATGAAGACATAGGATGTAGA	0.488													T|||	372	0.0742812	0.2557	0.0288	5008	,	,		23905	0.001		0.002	False		,,,				2504	0.0112				p.Y217C		Atlas-SNP	.											.	OR2AE1	32	.	0			c.A650G						PASS	.	T	CYS/TYR	953,3453	361.1+/-315.5	103,747,1353	113	95	101		650	3.6	0.1	7	dbSNP_129	101	22,8578	14.0+/-48.4	0,22,4278	yes	missense	OR2AE1	NM_001005276.1	194	103,769,5631	CC,CT,TT		0.2558,21.6296,7.4965	probably-damaging	217/324	99474007	975,12031	2203	4300	6503	SO:0001583	missense	81392	exon1			AAGACATAGGATG	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.650A>G	7.37:g.99474007T>C	ENSP00000313936:p.Tyr217Cys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_001005276	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	140	0.0641025641025641	127	0.258130081300813	12	0.03314917127071823	0	0.0	1	0.0013192612137203166	T	13.17	2.158510	0.38119	0.216296	0.002558	ENSG00000244623	ENST00000316368	T	0.00520	6.85	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	N	0.002597	T	0.00012	0.0000	H	0.95611	3.695	0.26077	P	0.9811449	D	0.89917	1.0	D	0.91635	0.999	T	0.23261	-1.0193	9	0.72032	D	0.01	.	10.8339	0.46675	0.0:0.0:0.0:1.0	rs60737583	217	Q8NHA4	O2AE1_HUMAN	C	217	ENSP00000313936:Y217C	ENSP00000313936:Y217C	Y	-	2	0	OR2AE1	99311943	1.000000	0.71417	0.058000	0.19502	0.189000	0.23516	5.082000	0.64450	1.877000	0.54381	0.405000	0.27470	TAT	T|0.932;C|0.068	0.068	strong		0.488	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			C	99474007	T	C	99474007	3	2	22	1	0	0	0	0	1	0	0	0	10983	1406	49	2	325	2	OR2AE1	7	99474007	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	149	99474007	59664656	4304	9412										
OR2AE1	81392	hgsc.bcm.edu	37	chr7	99474427	99474427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtagccatcttcaggatgAttgtggagacatgcatcaga	12	7	3	3	rs2572023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99474427A>G	ENST00000316368.2	-	1	253	c.230T>C	c.(229-231)aTc>aCc	p.I77T		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	77			I -> T (in dbSNP:rs2572023).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTTCAGGATGATTGTGGAGAC	0.483													G|||	2781	0.555312	0.9107	0.4251	5008	,	,		23726	0.2907		0.4851	False		,,,				2504	0.5123				p.I77T		Atlas-SNP	.											.	OR2AE1	32	.	0			c.T230C						PASS	.	G	THR/ILE	3687,719	296.7+/-284.4	1546,595,62	114	97	103		230	0.8	0.1	7	dbSNP_100	103	4489,4111	562.2+/-387.9	1165,2159,976	yes	missense	OR2AE1	NM_001005276.1	89	2711,2754,1038	GG,GA,AA		47.8023,16.3187,37.1367	benign	77/324	99474427	8176,4830	2203	4300	6503	SO:0001583	missense	81392	exon1			AGGATGATTGTGG	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.230T>C	7.37:g.99474427A>G	ENSP00000313936:p.Ile77Thr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	129	127	0.984496	NM_001005276	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	1152	0.5274725274725275	455	0.9247967479674797	171	0.4723756906077348	148	0.25874125874125875	378	0.49868073878627966	G	0.001	-3.109683	0.00032	0.836813	0.521977	ENSG00000244623	ENST00000316368	T	0.01139	5.28	3.63	0.807	0.18714	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	N	0.000891	T	0.00012	0.0000	N	0.04669	-0.19	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28554	-1.0040	9	0.02654	T	1	.	7.1689	0.25706	0.5367:0.0:0.4633:0.0	rs2572023;rs17277317;rs58768647;rs2572023	77	Q8NHA4	O2AE1_HUMAN	T	77	ENSP00000313936:I77T	ENSP00000313936:I77T	I	-	2	0	OR2AE1	99312363	0.000000	0.05858	0.126000	0.21872	0.014000	0.08584	-0.121000	0.10643	-0.055000	0.13244	-0.299000	0.09455	ATC	G|0.588;N|0.000	0.588	strong		0.483	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			G	99474427	A	G	99474427	3	3	22	1	0	0	0	0	1	0	0	0	10983	333	12	2	745	2	OR2AE1	7	99474427	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	420	99474427	59664236	4305	9413										
TRIM4	89122	hgsc.bcm.edu	37	chr7	99500911	99500911	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacctttacagcttcaagAgaatagttcacatcctggat	6	10	3	1	rs2247761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99500911A>G	ENST00000355947.2	-	6	978	c.849T>C	c.(847-849)tcT>tcC	p.S283S	TRIM4_ENST00000354241.5_Silent_p.S257S|TRIM4_ENST00000349062.2_Silent_p.S257S	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	283					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCTTCAAGAGAATAGTTCA	0.478													G|||	2898	0.578674	0.9039	0.4597	5008	,	,		21033	0.2976		0.5338	False		,,,				2504	0.5593				p.S283S		Atlas-SNP	.											.	TRIM4	33	.	0			c.T849C						PASS	.	G	,	3721,685	286.6+/-278.8	1574,573,56	126	120	122		849,771	1.2	0	7	dbSNP_100	122	5016,3584	518.2+/-379.2	1452,2112,736	no	coding-synonymous,coding-synonymous	TRIM4	NM_033017.3,NM_033091.2	,	3026,2685,792	GG,GA,AA		41.6744,15.547,32.8233	,	283/501,257/475	99500911	8737,4269	2203	4300	6503	SO:0001819	synonymous_variant	89122	exon6			TTCAAGAGAATAG	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.849T>C	7.37:g.99500911A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	CCDS5679.1	1194	0.5467032967032966	440	0.8943089430894309	181	0.5	158	0.2762237762237762	415	0.5474934036939314	G	0.012	-1.669101	0.00765	0.84453	0.583256	ENSG00000146833	ENST00000447480	T	0.03358	3.96	2.16	1.25	0.21368	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.29058	-1.0024	5	0.02654	T	1	.	8.2152	0.31507	0.1842:0.0:0.8158:0.0	rs2247761;rs10386374;rs17212140;rs2247761	.	.	.	P	159	ENSP00000396229:S159P	ENSP00000396229:S159P	S	-	1	0	TRIM4	99338847	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.126000	0.10563	-0.206000	0.10203	-1.820000	0.00599	TCT	A|0.383;G|0.617	0.617	strong		0.478	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		G	99500911	A	G	99500911	2	3	22	1	0	0	0	0	0	0	0	1	16511	291	11	3		3	TRIM4	7	99500911	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26484	99500911	59637752	4306	9414										
CNPY4	245812	hgsc.bcm.edu	37	chr7	99722173	99722173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagtttgaagacattgtgGgagactggtacttccaccat	12	7	0	3	rs60551236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99722173G>A	ENST00000262932.3	+	5	634	c.502G>A	c.(502-504)Gga>Aga	p.G168R	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	168	Glu-rich.		G -> R (in dbSNP:rs60551236).			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)					AGACATTGTGGGAGACTGGTA	0.507													G|||	109	0.0217652	0.0794	0.0058	5008	,	,		20245	0.0		0.0	False		,,,				2504	0.0				p.G168R		Atlas-SNP	.											.	CNPY4	18	.	0			c.G502A						PASS	.	G	ARG/GLY	343,4063	179.7+/-208.2	14,315,1874	105	105	105		502	5.9	1	7	dbSNP_129	105	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CNPY4	NM_152755.1	125	14,317,6172	AA,AG,GG		0.0233,7.7848,2.6526	possibly-damaging	168/249	99722173	345,12661	2203	4300	6503	SO:0001583	missense	245812	exon5			ATTGTGGGAGACT	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.502G>A	7.37:g.99722173G>A	ENSP00000262932:p.Gly168Arg	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_152755	Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	CCDS34701.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	G	29.2	4.986631	0.93106	0.077848	2.33E-4	ENSG00000166997	ENST00000262932	T	0.34859	1.34	5.94	5.94	0.96194	.	0.106425	0.64402	D	0.000007	T	0.02304	0.0071	N	0.08118	0	0.43489	D	0.995729	D	0.64830	0.994	D	0.66497	0.944	T	0.04400	-1.0954	10	0.23302	T	0.38	-10.3151	15.8634	0.79043	0.0:0.0:1.0:0.0	rs60551236	168	Q8N129	CNPY4_HUMAN	R	168	ENSP00000262932:G168R	ENSP00000262932:G168R	G	+	1	0	CNPY4	99560109	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.907000	0.87430	2.826000	0.97356	0.561000	0.74099	GGA	G|0.979;A|0.021	0.021	strong		0.507	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		A	99722173	G	A	99722173	3	1	22	1	0	0	0	0	1	0	0	0	3630	1233	43	2	520	2	CNPY4	7	99722173	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	221262	99722173	59416490	4307	9415										
MBLAC1	255374	hgsc.bcm.edu	37	chr7	99725466	99725466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacctgccccacgggctgGgtgaggggcagcccctgcgc	16	16	0	1	rs78225840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99725466G>T	ENST00000398075.2	+	2	847	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	150							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CCACGGGCTGGGTGAGGGGCA	0.746													G|||	125	0.0249601	0.09	0.0086	5008	,	,		12011	0.0		0.0	False		,,,				2504	0.0				p.G150C		Atlas-SNP	.											.	MBLAC1	13	.	0			c.G448T						PASS	.	G	CYS/GLY	289,3345		6,277,1534	9	11	10		448	-1.4	0	7	dbSNP_131	10	2,8064		0,2,4031	yes	missense	MBLAC1	NM_203397.1	159	6,279,5565	TT,TG,GG		0.0248,7.9527,2.4872	benign	150/267	99725466	291,11409	1817	4033	5850	SO:0001583	missense	255374	exon2			GGGCTGGGTGAGG	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.448G>T	7.37:g.99725466G>T	ENSP00000381150:p.Gly150Cys	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	49	27	0.55102	NM_203397	Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	CCDS43620.1	37	0.01694139194139194	31	0.06300813008130081	3	0.008287292817679558	3	0.005244755244755245	0	0.0	G	8.154	0.788075	0.16258	0.079527	2.48E-4	ENSG00000214309	ENST00000398075	T	0.30448	1.53	4.35	-1.38	0.09027	Beta-lactamase-like (2);	0.393038	0.20783	N	0.085752	T	0.00936	0.0031	L	0.46819	1.47	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.11060	-1.0603	10	0.38643	T	0.18	.	1.2154	0.01913	0.4798:0.1516:0.204:0.1646	.	150	A4D2B0	MBLC1_HUMAN	C	150	ENSP00000381150:G150C	ENSP00000381150:G150C	G	+	1	0	MBLAC1	99563402	0.000000	0.05858	0.005000	0.12908	0.332000	0.28634	0.180000	0.16860	-0.294000	0.08973	0.561000	0.74099	GGT	G|0.980;T|0.020	0.020	strong		0.746	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		T	99725466	G	T	99725466	3	4	22	1	0	0	0	0	1	0	0	0	9351	1232	43	4	450	4	MBLAC1	7	99725466	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3293	99725466	59413197	4308	9416										
GAL3ST4	79690	hgsc.bcm.edu	37	chr7	99758136	99758136	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagacagagtccagccaTgccagaccccactggatgaa	9	13	1	4	rs3800951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99758136T>G	ENST00000360039.4	-	4	1268	c.876A>C	c.(874-876)gcA>gcC	p.A292A	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.H191P|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Silent_p.A292A|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.H191P|GAL3ST4_ENST00000426974.2_Silent_p.A230A	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	292					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCAGCCATGCCAGACCCC	0.527													G|||	2721	0.543331	0.4622	0.4366	5008	,	,		20997	0.6438		0.5606	False		,,,				2504	0.6074				p.A292A		Atlas-SNP	.											.	GAL3ST4	59	.	0			c.A876C						PASS	.	G		2219,2187		551,1117,535	97	89	92		876	0.7	1	7	dbSNP_107	92	4919,3681		1421,2077,802	no	coding-synonymous	GAL3ST4	NM_024637.4		1972,3194,1337	GG,GT,TT		42.8023,49.6369,45.1176		292/487	99758136	7138,5868	2203	4300	6503	SO:0001819	synonymous_variant	79690	exon4			CAGCCATGCCAGA	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.876A>C	7.37:g.99758136T>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	105	47	0.447619	NM_024637	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	CCDS5688.1	1132	0.5183150183150184	204	0.4146341463414634	155	0.4281767955801105	343	0.5996503496503497	430	0.5672823218997362	G	9.010	0.982263	0.18889	0.503631	0.571977	ENSG00000197093	ENST00000423751;ENST00000411994	.	.	.	4.82	0.712	0.18167	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999823277	.	.	.	.	.	.	T	0.43877	-0.9364	4	0.87932	D	0	-9.2138	3.645	0.08181	0.269:0.0:0.4415:0.2895	rs3800951;rs17845360;rs17858211;rs56997718;rs3800951	.	.	.	P	191	.	ENSP00000414733:H191P	H	-	2	0	GAL3ST4	99596072	0.108000	0.22018	0.991000	0.47740	0.906000	0.53458	-0.016000	0.12613	-0.279000	0.09167	-0.285000	0.09966	CAT	T|0.464;G|0.536	0.536	strong		0.527	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		G	99758136	T	G	99758136	2	3	22	1	0	0	0	0	0	0	0	1	6200	1451	51	5		5	GAL3ST4	7	99758136	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32670	99758136	59380527	4309	9417										
GPC2	221914	hgsc.bcm.edu	37	chr7	99773879	99773879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgaaccagaaaggagccGctgtcctccaccaggcctcg	12	14	0	2	rs74662631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99773879G>A	ENST00000292377.2	-	2	443	c.276C>T	c.(274-276)agC>agT	p.S92S	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000426455.1_5'Flank|STAG3_ENST00000394018.2_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	92					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAGGAGCCGCTGTCCTCCA	0.587													G|||	87	0.0173722	0.0628	0.0058	5008	,	,		14063	0.0		0.0	False		,,,				2504	0.0				p.S92S		Atlas-SNP	.											.	GPC2	49	.	0			c.C276T						PASS	.	G		233,4173	138.4+/-174.2	6,221,1976	54	45	48		276	-4	0.4	7	dbSNP_132	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPC2	NM_152742.1		6,222,6275	AA,AG,GG		0.0116,5.2882,1.7992		92/580	99773879	234,12772	2203	4300	6503	SO:0001819	synonymous_variant	221914	exon2			GGAGCCGCTGTCC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.276C>T	7.37:g.99773879G>A		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	276	136	0.492754	NM_152742	A4D2A7	Silent	SNP	ENST00000292377.2	37	CCDS5689.1																																																																																			G|0.985;A|0.015	0.015	strong		0.587	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		A	99773879	G	A	99773879	2	1	22	1	0	0	0	0	0	0	0	1	6598	1078	38	1		1	GPC2	7	99773879	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15743	99773879	59364784	4310	9418										
STAG3	10734	hgsc.bcm.edu	37	chr7	99796146	99796146	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgtgagagcgtctacccAgttgtgtatgcctctcatcg	11	10	2	1	rs3735241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99796146A>C	ENST00000426455.1	+	13	1700	c.1293A>C	c.(1291-1293)ccA>ccC	p.P431P	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.P431P|STAG3_ENST00000394018.2_Silent_p.P373P	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	431					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGTCTACCCAGTTGTGTATG	0.522													C|||	2504	0.5	0.3654	0.6254	5008	,	,		19600	0.6815		0.498	False		,,,				2504	0.408				p.P431P		Atlas-SNP	.											.	STAG3	121	.	0			c.A1293C						PASS	.	C		1816,2590		363,1090,750	142	123	130		1293	-6.2	0.1	7	dbSNP_107	130	4281,4319		1082,2117,1101	no	coding-synonymous	STAG3	NM_012447.2		1445,3207,1851	CC,CA,AA		49.7791,41.2165,46.8784		431/1226	99796146	6097,6909	2203	4300	6503	SO:0001819	synonymous_variant	10734	exon13			CTACCCAGTTGTG	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1293A>C	7.37:g.99796146A>C		Somatic	347	0	0		WXS	Illumina HiSeq	Phase_I	410	207	0.504878	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																			C|0.482;N|0.000	0.482	strong		0.522	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		C	99796146	A	C	99796146	2	2	22	1	0	0	0	0	0	0	0	1	15243	175	7	5		5	STAG3	7	99796146	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22267	99796146	59342517	4311	9419										
STAG3	10734	hgsc.bcm.edu	37	chr7	99799845	99799845	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctttagccctcagatgatTgttgggggccgtgatttcct	11	9	2	3	rs1043915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:99799845T>A	ENST00000426455.1	+	24	2852	c.2445T>A	c.(2443-2445)atT>atA	p.I815I	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.I815I|STAG3_ENST00000394018.2_Silent_p.I757I	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	815					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGATGATTGTTGGGGGCC	0.458													T|||	1969	0.393171	0.3343	0.5173	5008	,	,		19641	0.621		0.2664	False		,,,				2504	0.2802				p.I815I		Atlas-SNP	.											.	STAG3	121	.	0			c.T2445A						PASS	.	T	,	1502,2904		245,1012,946	144	153	150		2445,	-0.2	0.1	7	dbSNP_86	150	2263,6337		305,1653,2342	no	coding-synonymous,utr-3	STAG3,GATS	NM_012447.2,NM_178831.6	,	550,2665,3288	AA,AT,TT		26.314,34.0899,28.9482	,	815/1226,	99799845	3765,9241	2203	4300	6503	SO:0001819	synonymous_variant	10734	exon24			GATGATTGTTGGG	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2445T>A	7.37:g.99799845T>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																			T|0.679;A|0.321	0.321	strong		0.458	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		A	99799845	T	A	99799845	2	1	22	1	0	0	0	0	0	0	0	1	15243	1800	63	5		5	STAG3	7	99799845	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3699	99799845	59338818	4312	9420										
AGFG2	3268	hgsc.bcm.edu	37	chr7	100151719	100151719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attccttctcctccaagcccGtcagtcagtctcacgctcgg	7	17	4	0	rs61742738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100151719G>A	ENST00000300176.4	+	5	711	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	197					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCAAGCCCGTCAGTCAGTC	0.597													G|||	203	0.0405351	0.143	0.0144	5008	,	,		19840	0.001		0.003	False		,,,				2504	0.0				p.V197I		Atlas-SNP	.											.	AGFG2	44	.	0			c.G589A						PASS	.	G	ILE/VAL	588,3818	259.2+/-262.9	40,508,1655	69	62	64		589	3.3	1	7	dbSNP_129	64	15,8585	10.5+/-38.8	0,15,4285	yes	missense	AGFG2	NM_006076.4	29	40,523,5940	AA,AG,GG		0.1744,13.3454,4.6363	benign	197/482	100151719	603,12403	2203	4300	6503	SO:0001583	missense	3268	exon5			AAGCCCGTCAGTC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.589G>A	7.37:g.100151719G>A	ENSP00000300176:p.Val197Ile	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	86	43	0.5	NM_006076	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	76	0.0347985347985348	69	0.1402439024390244	5	0.013812154696132596	0	0.0	2	0.002638522427440633	G	6.520	0.464149	0.12402	0.133454	0.001744	ENSG00000106351	ENST00000300176	T	0.22945	1.93	5.1	3.31	0.37934	.	0.980801	0.08316	N	0.964634	T	0.00144	0.0004	N	0.25485	0.75	0.09310	P	0.9999999999537761	B	0.14438	0.01	B	0.06405	0.002	T	0.22695	-1.0209	9	0.23891	T	0.37	-29.7338	8.266	0.31815	0.1791:0.0:0.8209:0.0	rs61742738	197	O95081	AGFG2_HUMAN	I	197	ENSP00000300176:V197I	ENSP00000300176:V197I	V	+	1	0	AGFG2	99989655	0.823000	0.29233	0.979000	0.43373	0.187000	0.23431	1.897000	0.39799	0.877000	0.35895	-0.125000	0.14975	GTC	G|0.959;A|0.041	0.041	strong		0.597	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		A	100151719	G	A	100151719	3	1	22	1	0	0	0	0	1	0	0	0	381	1145	40	1	607	1	AGFG2	7	100151719	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	351874	100151719	58986944	4313	9421										
AGFG2	3268	hgsc.bcm.edu	37	chr7	100160264	100160264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgctccagtctgtcacgaTgggcggcggcggcggcagca	16	15	2	0	rs17855473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100160264T>C	ENST00000300176.4	+	8	1168	c.1046T>C	c.(1045-1047)aTg>aCg	p.M349T	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	349				M -> T (in Ref. 2; AAH17329). {ECO:0000305}.	regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGTCACGATGGGCGGCGGC	0.647													C|||	910	0.181709	0.3449	0.1455	5008	,	,		15023	0.0188		0.1869	False		,,,				2504	0.1493				p.M349T		Atlas-SNP	.											AGFG2,NS,carcinoma,0,1	AGFG2	44	1	0			c.T1046C						PASS	.	C	THR/MET	1380,3026	671.4+/-402.5	209,962,1032	31	32	32		1046	3.6	0	7	dbSNP_123	32	1612,6988	723.3+/-406.5	148,1316,2836	yes	missense	AGFG2	NM_006076.4	81	357,2278,3868	CC,CT,TT		18.7442,31.3209,23.0048	benign	349/482	100160264	2992,10014	2203	4300	6503	SO:0001583	missense	3268	exon8			TCACGATGGGCGG	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1046T>C	7.37:g.100160264T>C	ENSP00000300176:p.Met349Thr	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	110	54	0.490909	NM_006076	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	365|365	0.1671245421245421|0.1671245421245421	170|170	0.34552845528455284|0.34552845528455284	52|52	0.143646408839779|0.143646408839779	2|2	0.0034965034965034965|0.0034965034965034965	141|141	0.18601583113456466|0.18601583113456466	C|C	0.029|0.029	-1.347421|-1.347421	0.01266|0.01266	0.313209|0.313209	0.187442|0.187442	ENSG00000106351|ENSG00000106351	ENST00000300176|ENST00000429987	T|.	0.20738|.	2.05|.	4.51|4.51	3.64|3.64	0.41730|0.41730	.|.	0.880910|.	0.10039|.	N|.	0.723737|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00308|0.00308	-1.67|-1.67	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.42396|0.42396	-0.9454|-0.9454	9|4	0.16896|.	T|.	0.51|.	-19.9228|-19.9228	8.6556|8.6556	0.34062|0.34062	0.0:0.854:0.0:0.146|0.0:0.854:0.0:0.146	rs17855473;rs17855473|rs17855473;rs17855473	349|.	O95081|.	AGFG2_HUMAN|.	T|R	349|91	ENSP00000300176:M349T|.	ENSP00000300176:M349T|.	M|W	+|+	2|1	0|0	AGFG2|AGFG2	99998200|99998200	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.912000|0.912000	0.28597|0.28597	0.524000|0.524000	0.28502|0.28502	-1.653000|-1.653000	0.00756|0.00756	ATG|TGG	T|0.797;C|0.203	0.203	strong		0.647	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		C	100160264	T	C	100160264	3	2	22	1	0	0	0	0	1	0	0	0	381	1464	51	2	1076	2	AGFG2	7	100160264	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8545	100160264	58978399	4314	9422										
LRCH4	4034	hgsc.bcm.edu	37	chr7	100175853	100175853	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagcccaccatcgtaccGatgtcccggaaatagatcct	8	15	0	1	rs187288824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100175853G>T	ENST00000310300.6	-	7	929	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	293					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATCGTACCGATGTCCCGGA	0.592																																					p.R293R		Atlas-SNP	.											LRCH4,NS,carcinoma,0,1	LRCH4	53	1	0			c.C877A						scavenged	.						114	91	99					7																	100175853		2203	4300	6503	SO:0001819	synonymous_variant	4034	exon7			CGTACCGATGTCC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.877C>A	7.37:g.100175853G>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	129	3	0.0232558	NM_002319	A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																			G|0.999;A|0.001	.	alt		0.592	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		T	100175853	G	T	100175853	2	4	22	1	0	0	0	0	0	0	0	1	8935	1057	37	4		4	LRCH4	7	100175853	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15589	100175853	58962810	4315	9423										
GIGYF1	64599	hgsc.bcm.edu	37	chr7	100285476	100285476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgtcctgcagcaccgcggCgaactccttgtcctgcagct	10	17	0	0	rs77794375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100285476C>T	ENST00000275732.5	-	3	1405	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	66					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGCACCGCGGCGAACTCCTTG	0.677													C|||	836	0.166933	0.0242	0.2824	5008	,	,		9778	0.497		0.0109	False		,,,				2504	0.0982				p.A66T		Atlas-SNP	.											.	GIGYF1	113	.	0			c.G196A						PASS	.	C	THR/ALA	102,4304		0,102,2101	46	50	49		196	4.1	0.9	7	dbSNP_131	49	64,8534		1,62,4236	yes	missense	GIGYF1	NM_022574.4	58	1,164,6337	TT,TC,CC		0.7444,2.315,1.2765	benign	66/1036	100285476	166,12838	2203	4299	6502	SO:0001583	missense	64599	exon3			CCGCGGCGAACTC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.196G>A	7.37:g.100285476C>T	ENSP00000275732:p.Ala66Thr	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	147	56	0.380952	NM_022574	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	382	0.1749084249084249	9	0.018292682926829267	75	0.20718232044198895	288	0.5034965034965035	10	0.013192612137203167	.	15.70	2.911933	0.52439	0.02315	0.007444	ENSG00000146830	ENST00000275732	D	0.83419	-1.72	5.01	4.11	0.48088	.	0.064498	0.64402	D	0.000011	T	0.00012	0.0000	M	0.61703	1.905	0.20196	P	0.9999285618	P	0.42161	0.772	B	0.30943	0.122	T	0.45086	-0.9285	9	0.15499	T	0.54	-4.1422	12.3836	0.55322	0.1694:0.8305:0.0:0.0	.	66	O75420	PERQ1_HUMAN	T	66	ENSP00000275732:A66T	ENSP00000275732:A66T	A	-	1	0	GIGYF1	100123412	0.104000	0.21937	0.878000	0.34440	0.891000	0.51852	0.451000	0.21779	1.290000	0.44636	0.563000	0.77884	GCC	C|0.942;T|0.058	0.058	strong		0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		T	100285476	C	T	100285476	3	4	22	1	0	0	0	0	1	0	0	0	6377	768	27	1	2999	1	GIGYF1	7	100285476	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109623	100285476	58853187	4316	9424										
SLC12A9	56996	hgsc.bcm.edu	37	chr7	100456506	100456506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgtgatgaattttgccagCgtctttgctgtcctctttaa	9	10	2	2	rs78261122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100456506C>T	ENST00000354161.3	+	6	932	c.807C>T	c.(805-807)agC>agT	p.S269S	SLC12A9_ENST00000540482.1_Silent_p.S269S|SLC12A9_ENST00000415287.1_Silent_p.S180S|SLC12A9_ENST00000275729.3_Silent_p.S180S|SLC12A9_ENST00000428758.1_Silent_p.S269S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	269				S -> N (in Ref. 1; AAF88060). {ECO:0000305}.	chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATTTTGCCAGCGTCTTTGCTG	0.587													C|||	32	0.00638978	0.0242	0.0	5008	,	,		19182	0.0		0.0	False		,,,				2504	0.0				p.S269S		Atlas-SNP	.											.	SLC12A9	81	.	0			c.C807T						PASS	.	C		102,4304	80.9+/-119.3	3,96,2104	99	77	84		807	-2.4	1	7	dbSNP_132	84	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	SLC12A9	NM_020246.2		3,99,6401	TT,TC,CC		0.0349,2.315,0.8073		269/915	100456506	105,12901	2203	4300	6503	SO:0001819	synonymous_variant	56996	exon6			TGCCAGCGTCTTT	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.807C>T	7.37:g.100456506C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	196	90	0.459184	NM_001267812	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																			C|0.994;T|0.006	0.006	strong		0.587	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		T	100456506	C	T	100456506	2	4	22	1	0	0	0	0	0	0	0	1	14390	767	27	1		1	SLC12A9	7	100456506	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171030	100456506	58682157	4317	9425										
SLC12A9	56996	hgsc.bcm.edu	37	chr7	100458795	100458795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaagctgaacacactggcTgctgtggtcactgtcttcta	12	10	3	1	rs314378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100458795T>C	ENST00000354161.3	+	10	1379	c.1254T>C	c.(1252-1254)gcT>gcC	p.A418A	SLC12A9_ENST00000540482.1_Silent_p.A418A|SLC12A9_ENST00000415287.1_Silent_p.A329A|SLC12A9_ENST00000428758.1_Silent_p.A418A|SLC12A9_ENST00000275729.3_Silent_p.A329A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	418					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACACACTGGCTGCTGTGGTCA	0.622													C|||	2897	0.578474	0.4168	0.6527	5008	,	,		17391	0.8095		0.5159	False		,,,				2504	0.5706				p.A418A		Atlas-SNP	.											.	SLC12A9	81	.	0			c.T1254C						PASS	.	C		1969,2437	620.5+/-393.6	416,1137,650	114	99	104		1254	-10.3	0	7	dbSNP_79	104	4504,4096	560.2+/-387.5	1220,2064,1016	no	coding-synonymous	SLC12A9	NM_020246.2		1636,3201,1666	CC,CT,TT		47.6279,44.6891,49.7693		418/915	100458795	6473,6533	2203	4300	6503	SO:0001819	synonymous_variant	56996	exon10			ACTGGCTGCTGTG	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1254T>C	7.37:g.100458795T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_001267812	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																			T|0.465;C|0.535	0.535	strong		0.622	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		C	100458795	T	C	100458795	2	2	22	1	0	0	0	0	0	0	0	1	14390	1567	55	3		3	SLC12A9	7	100458795	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2289	100458795	58679868	4318	9426										
TRIP6	7205	hgsc.bcm.edu	37	chr7	100466441	100466441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaagaggaagctgctgggGtctctggccctgcaggaaga	15	10	1	2	rs2075756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100466441G>A	ENST00000200457.4	+	4	1048	c.688G>A	c.(688-690)Gtc>Atc	p.V230I		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	230			V -> I (in dbSNP:rs2075756). {ECO:0000269|PubMed:15489334}.		focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTGCTGGGGTCTCTGGCCC	0.652													G|||	1360	0.271565	0.0575	0.4553	5008	,	,		13728	0.4464		0.2644	False		,,,				2504	0.2577				p.V230I		Atlas-SNP	.											.	TRIP6	45	.	0			c.G688A						PASS	.	G	ILE/VAL	414,3298		26,362,1468	16	20	19		688	5.1	0.2	7	dbSNP_96	19	2193,5959		328,1537,2211	yes	missense	TRIP6	NM_003302.2	29	354,1899,3679	AA,AG,GG		26.9014,11.153,21.974	benign	230/477	100466441	2607,9257	1856	4076	5932	SO:0001583	missense	7205	exon4			GCTGGGGTCTCTG	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.688G>A	7.37:g.100466441G>A	ENSP00000200457:p.Val230Ile	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	160	93	0.58125	NM_003302	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	CCDS5708.1	615	0.2815934065934066	29	0.05894308943089431	142	0.39226519337016574	256	0.44755244755244755	188	0.24802110817941952	G	16.62	3.175315	0.57692	0.11153	0.269014	ENSG00000087077	ENST00000200457	T	0.59638	0.25	5.09	5.09	0.68999	.	1.627630	0.03005	N	0.148728	T	0.00012	0.0000	L	0.36672	1.1	0.47584	P	5.309999999999482E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.17471	-1.0368	9	0.35671	T	0.21	.	13.9605	0.64175	0.0:0.0:1.0:0.0	rs2075756;rs11539291;rs17844960;rs17857700;rs59470193;rs2075756	230	Q15654	TRIP6_HUMAN	I	230	ENSP00000200457:V230I	ENSP00000200457:V230I	V	+	1	0	TRIP6	100304377	0.105000	0.21958	0.188000	0.23233	0.787000	0.44495	0.540000	0.23191	2.341000	0.79615	0.561000	0.74099	GTC	G|0.746;A|0.254	0.254	strong		0.652	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		A	100466441	G	A	100466441	3	1	22	1	0	0	0	0	1	0	0	0	16556	1261	44	2	702	2	TRIP6	7	100466441	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7646	100466441	58672222	4319	9427										
TRIP6	7205	hgsc.bcm.edu	37	chr7	100468284	100468284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcacgtgggctgctttgtAtgttctacatgccgggccca	11	11	2	0	rs1054391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100468284A>G	ENST00000200457.4	+	6	1278	c.918A>G	c.(916-918)gtA>gtG	p.V306V		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	306	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGCTTTGTATGTTCTACAT	0.627													G|||	2805	0.560104	0.3585	0.6513	5008	,	,		17643	0.8095		0.5149	False		,,,				2504	0.5573				p.V306V		Atlas-SNP	.											TRIP6,colon,carcinoma,0,1	TRIP6	45	1	0			c.A918G						PASS	.	G		1745,2661	648.6+/-398.7	325,1095,783	171	149	156		918	4.9	1	7	dbSNP_86	156	4501,4099	560.6+/-387.6	1220,2061,1019	no	coding-synonymous	TRIP6	NM_003302.2		1545,3156,1802	GG,GA,AA		47.6628,39.6051,48.024		306/477	100468284	6246,6760	2203	4300	6503	SO:0001819	synonymous_variant	7205	exon6			CTTTGTATGTTCT	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.918A>G	7.37:g.100468284A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	183	183	1	NM_003302	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	CCDS5708.1	1254	0.5741758241758241	177	0.3597560975609756	225	0.6215469613259669	462	0.8076923076923077	390	0.5145118733509235	g	11.14	1.550900	0.27739	0.396051	0.523372	ENSG00000087077	ENST00000429658	.	.	.	5.79	4.91	0.64330	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22941	-1.0202	3	.	.	.	.	8.0257	0.30436	0.1038:0.4175:0.4787:0.0	rs1054391;rs3173641;rs17849646;rs61138970;rs1054391	.	.	.	C	80	.	.	Y	+	2	0	TRIP6	100306220	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.009000	0.29886	0.806000	0.34183	-0.142000	0.14014	TAT	A|0.482;G|0.518	0.518	strong		0.627	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		G	100468284	A	G	100468284	2	3	22	1	0	0	0	0	0	0	0	1	16556	436	16	2		2	TRIP6	7	100468284	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1843	100468284	58670379	4320	9428										
SRRT	51593	hgsc.bcm.edu	37	chr7	100482026	100482026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcacggagaatgatctTcgcatcctggagcaggagga	16	8	1	2	rs15624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100482026T>C	ENST00000347433.4	+	7	953	c.795T>C	c.(793-795)ctT>ctC	p.L265L	SRRT_ENST00000432932.1_Silent_p.L265L|SRRT_ENST00000457580.2_Silent_p.L265L|SRRT_ENST00000388793.4_Silent_p.L265L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	265	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAATGATCTTCGCATCCTGG	0.602													C|||	2889	0.576877	0.4107	0.6513	5008	,	,		13874	0.8095		0.5159	False		,,,				2504	0.5716				p.L265L		Atlas-SNP	.											.	SRRT	108	.	0			c.T795C						PASS	.	C	,,,	1949,2457	613.6+/-392.2	409,1131,663	39	36	37		795,795,795,795	-8.1	0.5	7	dbSNP_52	37	4503,4097	552.3+/-386.1	1218,2067,1015	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SRRT	NM_001128852.1,NM_001128853.1,NM_001128854.1,NM_015908.5	,,,	1627,3198,1678	CC,CT,TT		47.6395,44.2351,49.6079	,,,	265/876,265/873,265/872,265/877	100482026	6452,6554	2203	4300	6503	SO:0001819	synonymous_variant	51593	exon7			TGATCTTCGCATC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.795T>C	7.37:g.100482026T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	74	73	0.986486	NM_001128853	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																			T|0.462;C|0.538	0.538	strong		0.602	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		C	100482026	T	C	100482026	2	2	22	1	0	0	0	0	0	0	0	1	15171	1770	62	2		2	SRRT	7	100482026	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13742	100482026	58656637	4321	9429										
SRRT	51593	hgsc.bcm.edu	37	chr7	100486110	100486110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaggatggttcgtggagaCccaagggccattgtggaata	14	8	0	1	rs11171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100486110C>T	ENST00000347433.4	+	20	2729	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	SRRT_ENST00000432932.1_Silent_p.D852D|SRRT_ENST00000457580.2_Silent_p.D853D|SRRT_ENST00000388793.4_Silent_p.D856D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	857					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTCGTGGAGACCCAAGGGCCA	0.557													C|||	425	0.0848642	0.2126	0.0663	5008	,	,		18638	0.002		0.0537	False		,,,				2504	0.0429				p.D857D		Atlas-SNP	.											.	SRRT	108	.	0			c.C2571T						PASS	.	C	,,,	778,3628	314.1+/-293.5	67,644,1492	111	102	105		2568,2559,2556,2571	5.1	1	7	dbSNP_52	105	416,8184	129.2+/-187.3	14,388,3898	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SRRT	NM_001128852.1,NM_001128853.1,NM_001128854.1,NM_015908.5	,,,	81,1032,5390	TT,TC,CC		4.8372,17.6577,9.1804	,,,	856/876,853/873,852/872,857/877	100486110	1194,11812	2203	4300	6503	SO:0001819	synonymous_variant	51593	exon20			TGGAGACCCAAGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2571C>T	7.37:g.100486110C>T		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	244	125	0.512295	NM_015908	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1	187	0.08562271062271062	112	0.22764227642276422	29	0.08011049723756906	1	0.0017482517482517483	45	0.059366754617414245	C	14.74	2.625608	0.46840	0.176577	0.048372	ENSG00000087087	ENST00000342198;ENST00000445337	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.00408	-1.1758	4	0.87932	D	0	.	16.0149	0.80430	0.0:1.0:0.0:0.0	rs11171;rs1053804;rs1132992;rs3167782;rs3194359;rs11541869;rs17162539;rs17884480;rs57867297;rs11171	.	.	.	I	221;92	.	ENSP00000344670:T221I	T	+	2	0	SRRT	100324046	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.654000	0.24918	2.363000	0.80096	0.478000	0.44815	ACC	C|0.905;T|0.095	0.095	strong		0.557	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		T	100486110	C	T	100486110	2	4	22	1	0	0	0	0	0	0	0	1	15171	506	18	2		2	SRRT	7	100486110	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4084	100486110	58652553	4322	9430										
ACHE	43	hgsc.bcm.edu	37	chr7	100490077	100490077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcgatctcgtagccgtgGggcacccccatccacagggg	12	15	1	0	rs7636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100490077G>A	ENST00000412389.1	-	2	1586	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	ACHE_ENST00000411582.1_Silent_p.P477P|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000428317.1_Silent_p.P477P|ACHE_ENST00000419336.2_Silent_p.P389P|ACHE_ENST00000241069.5_Silent_p.P477P|ACHE_ENST00000302913.4_Silent_p.P477P			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	477					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CGTAGCCGTGGGGCACCCCCA	0.617													G|||	527	0.105232	0.2897	0.0663	5008	,	,		13694	0.002		0.0527	False		,,,				2504	0.044				p.P477P		Atlas-SNP	.											.	ACHE	80	.	0			c.C1431T						PASS	.	G	,	1006,3400	372.5+/-320.4	128,750,1325	45	45	45	http://www.ncbi.nlm.nih.gov/pubmed?term	1431,1431	3.9	1	7	dbSNP_52	45	411,8189	128.7+/-186.9	14,383,3903	yes	coding-synonymous,coding-synonymous	ACHE	NM_000665.3,NM_015831.2	,	142,1133,5228	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	4.7791,22.8325,10.895	,	477/615,477/618	100490077	1417,11589	2203	4300	6503	SO:0001819	synonymous_variant	43	exon3			GCCGTGGGGCACC		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1431C>T	7.37:g.100490077G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	101	42	0.415842	NM_000665	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	CCDS5709.1																																																																																			G|0.887;A|0.113	0.113	strong		0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		A	100490077	G	A	100490077	2	1	22	1	0	0	0	0	0	0	0	1	141	1219	43	2		2	ACHE	7	100490077	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3967	100490077	58648586	4323	9431										
MUC17	140453	hgsc.bcm.edu	37	chr7	100675367	100675367	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattaacaagtatgcctgccAgcaccatgaaggtggccagt					rs116801454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100675367A>G	ENST00000306151.4	+	3	734	c.670A>G	c.(670-672)Agc>Ggc	p.S224G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	224	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)					TATGCCTGCCAGCACCATGAA	0.473													A|||	67	0.0133786	0.0492	0.0029	5008	,	,		23907	0.0		0.0	False		,,,				2504	0.0				p.S224G		Atlas-SNP	.											.	MUC17	804	.	0			c.A670G						PASS	.	A	GLY/SER	208,4198	127.8+/-164.7	5,198,2000	175	178	177		670	-0.9	0	7	dbSNP_132	177	2,8598	1.2+/-3.3	0,2,4298	yes	missense	MUC17	NM_001040105.1	56	5,200,6298	GG,GA,AA		0.0233,4.7208,1.6146	possibly-damaging	224/4494	100675367	210,12796	2203	4300	6503	SO:0001583	missense	140453	exon3			CCTGCCAGCACCA	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.670A>G	7.37:g.100675367A>G	ENSP00000302716:p.Ser224Gly	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	107	46	0.429907	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	A	1.401	-0.578226	0.03854	0.047208	2.33E-4	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.801	-0.886	0.10590	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	B	0.34138	0.176	T	0.46843	-0.9162	9	0.23302	T	0.38	.	2.6539	0.05007	0.5677:0.0:0.0:0.4323	.	224	Q685J3	MUC17_HUMAN	G	224	ENSP00000302716:S224G	ENSP00000302716:S224G	S	+	1	0	MUC17	100462087	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	0.201000	0.17276	-0.273000	0.09246	0.165000	0.16767	AGC	A|0.987;G|0.013	0.013	strong		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100675367	A	G	100675367	3	3	22	1	0	0	0	0	1	0	0	0	9974	188	7	3	680	3	MUC17	7	100675367	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	185290	100675367	58463296	4324	9432	187	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100675376	100675376	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatgcctgccagcaccatgAaggtggccagttcagaggct					rs10229731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100675376A>C	ENST00000306151.4	+	3	743	c.679A>C	c.(679-681)Aag>Cag	p.K227Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	227	59 X approximate tandem repeats.|Ser-rich.		K -> Q (in dbSNP:rs10229731).		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)					CAGCACCATGAAGGTGGCCAG	0.478													C|||	1179	0.235423	0.3396	0.1009	5008	,	,		23835	0.254		0.1213	False		,,,				2504	0.2883				p.K227Q		Atlas-SNP	.											.	MUC17	804	.	0			c.A679C						PASS	.	C	GLN/LYS	1330,3076	695.0+/-405.9	209,912,1082	174	177	176		679	-0.6	0	7	dbSNP_119	176	998,7602	773.4+/-407.7	56,886,3358	yes	missense	MUC17	NM_001040105.1	53	265,1798,4440	CC,CA,AA		11.6047,30.1861,17.8994	benign	227/4494	100675376	2328,10678	2203	4300	6503	SO:0001583	missense	140453	exon3			ACCATGAAGGTGG	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.679A>C	7.37:g.100675376A>C	ENSP00000302716:p.Lys227Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	411	0.18818681318681318	142	0.2886178861788618	41	0.1132596685082873	139	0.243006993006993	89	0.11741424802110818	C	0.851	-0.738688	0.03111	0.301861	0.116047	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.533	-0.628	0.11537	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15719	0.014	B	0.01281	0.0	T	0.42155	-0.9468	7	0.13470	T	0.59	.	.	.	.	rs10229731;rs52834675;rs59400468;rs10229731	227	Q685J3	MUC17_HUMAN	Q	227	ENSP00000302716:K227Q	ENSP00000302716:K227Q	K	+	1	0	MUC17	100462096	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-4.063000	0.00302	-1.118000	0.02961	-1.116000	0.02052	AAG	A|0.825;C|0.175	0.175	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100675376	A	C	100675376	3	2	22	1	0	0	0	0	1	0	0	0	9974	247	9	5	689	5	MUC17	7	100675376	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9	100675376	58463287	4325	9433	187	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100675512	100675512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaaactcagctcctagtgGaggaagcactccattaacaa	8	11	2	0	rs10259584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100675512G>A	ENST00000306151.4	+	3	879	c.815G>A	c.(814-816)gGa>gAa	p.G272E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	272	59 X approximate tandem repeats.|Ser-rich.		G -> E (in dbSNP:rs10259584).		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)					GCTCCTAGTGGAGGAAGCACT	0.507													A|||	683	0.136382	0.2519	0.085	5008	,	,		24177	0.0665		0.1173	False		,,,				2504	0.1084				p.G272E		Atlas-SNP	.											.	MUC17	804	.	0			c.G815A						PASS	.	A	GLU/GLY	970,3436	733.4+/-410.5	105,760,1338	148	146	147		815	0.4	0	7	dbSNP_119	147	986,7614	774.1+/-407.7	56,874,3370	yes	missense	MUC17	NM_001040105.1	98	161,1634,4708	AA,AG,GG		11.4651,22.0154,15.0392	benign	272/4494	100675512	1956,11050	2203	4300	6503	SO:0001583	missense	140453	exon3			CTAGTGGAGGAAG	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.815G>A	7.37:g.100675512G>A	ENSP00000302716:p.Gly272Glu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	130	66	0.507692	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	248	0.11355311355311355	98	0.1991869918699187	34	0.09392265193370165	29	0.050699300699300696	87	0.11477572559366754	A	0.489	-0.876341	0.02550	0.220154	0.114651	ENSG00000169876	ENST00000306151	T	0.03553	3.89	0.429	0.429	0.16506	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	8	0.02654	T	1	.	4.4758	0.11739	0.428:0.0:0.572:0.0	rs10259584;rs10259584	272	Q685J3	MUC17_HUMAN	E	272	ENSP00000302716:G272E	ENSP00000302716:G272E	G	+	2	0	MUC17	100462232	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.655000	0.00854	-1.479000	0.01867	-1.958000	0.00481	GGA	G|0.868;A|0.132	0.132	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100675512	G	A	100675512	3	1	22	1	0	0	0	0	1	0	0	0	9974	1174	41	2	825	2	MUC17	7	100675512	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136	100675512	58463151	4326	9434			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100676409	100676409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctagtgaaggaagcactcCattaacaaacatgcctgtca	7	11	1	1	rs34834039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100676409C>T	ENST00000306151.4	+	3	1776	c.1712C>T	c.(1711-1713)cCa>cTa	p.P571L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	571	59 X approximate tandem repeats.|Ser-rich.		P -> L (in dbSNP:rs34834039).		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)					GGAAGCACTCCATTAACAAAC	0.493													C|||	602	0.120208	0.1967	0.0821	5008	,	,		27512	0.0645		0.1173	False		,,,				2504	0.1043				p.P571L		Atlas-SNP	.											.	MUC17	804	.	0			c.C1712T						PASS	.	C	LEU/PRO	773,3633	314.4+/-293.6	63,647,1493	287	298	294		1712	0.4	0	7	dbSNP_126	294	982,7618	212.9+/-253.1	56,870,3374	yes	missense	MUC17	NM_001040105.1	98	119,1517,4867	TT,TC,CC		11.4186,17.5443,13.4938	benign	571/4494	100676409	1755,11251	2203	4300	6503	SO:0001583	missense	140453	exon3			GCACTCCATTAAC	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.1712C>T	7.37:g.100676409C>T	ENSP00000302716:p.Pro571Leu	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	155	72	0.464516	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	221	0.10119047619047619	69	0.1402439024390244	34	0.09392265193370165	29	0.050699300699300696	89	0.11741424802110818	C	2.299	-0.360703	0.05103	0.175443	0.114186	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.401	0.401	0.16338	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.58432	P	1.0000000000287557E-6	B	0.24963	0.115	B	0.09377	0.004	T	0.46816	-0.9164	8	0.16420	T	0.52	.	6.7501	0.23482	0.0:0.9999:0.0:1.0E-4	rs34834039	571	Q685J3	MUC17_HUMAN	L	571	ENSP00000302716:P571L	ENSP00000302716:P571L	P	+	2	0	MUC17	100463129	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.756000	0.26419	0.496000	0.27904	0.501000	0.49751	CCA	C|0.880;T|0.120	0.120	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100676409	C	T	100676409	3	4	22	1	0	0	0	0	1	0	0	0	9974	594	21	2	1722	2	MUC17	7	100676409	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	897	100676409	58462254	4327	9435			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677279	100677279	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccaacctcaacttataGtgaaggaagaactcctttaa					rs76184171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677279G>C	ENST00000306151.4	+	3	2646	c.2582G>C	c.(2581-2583)aGt>aCt	p.S861T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	861	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)	p.S861T(3)		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)					TCAACTTATAGTGAAGGAAGA	0.483																																					p.S861T		Atlas-SNP	.											MUC17,colon,carcinoma,+1,9	MUC17	804	9	3	Substitution - Missense(3)	breast(3)	c.G2582C						scavenged	.	G	THR/SER	792,3614		0,792,1411	299	284	289		2582	-1.5	0	7	dbSNP_131	289	690,7910		0,690,3610	no	missense	MUC17	NM_001040105.1	58	0,1482,5021	CC,CG,GG		8.0233,17.9755,11.3947	benign	861/4494	100677279	1482,11524	2203	4300	6503	SO:0001583	missense	140453	exon3			CTTATAGTGAAGG	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.2582G>C	7.37:g.100677279G>C	ENSP00000302716:p.Ser861Thr	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	202	50	0.247525	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482778	0.04383	0.179755	0.080233	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.14	-1.5	0.08691	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42749	-0.9433	9	0.06891	T	0.86	.	3.7128	0.08427	0.0:0.532:0.2629:0.2051	.	861	Q685J3	MUC17_HUMAN	T	861	ENSP00000302716:S861T	ENSP00000302716:S861T	S	+	2	0	MUC17	100463999	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-0.462000	0.06984	0.196000	0.17591	AGT	G|0.992;C|0.008	0.008	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677279	G	C	100677279	3	2	22	1	0	0	0	0	1	0	0	0	9974	1029	36	4	2592	4	MUC17	7	100677279	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	870	100677279	58461384	4328	9436	188	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677285	100677285	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctcaacttatagtgaagGaagaactcctttaacaagta					rs74852422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677285G>A	ENST00000306151.4	+	3	2652	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	863	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)					TATAGTGAAGGAAGAACTCCT	0.493																																					p.G863E		Atlas-SNP	.											.	MUC17	804	.	0			c.G2588A						PASS	.						302	284	290					7																	100677285		2203	4300	6503	SO:0001583	missense	140453	exon3			GTGAAGGAAGAAC	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.2588G>A	7.37:g.100677285G>A	ENSP00000302716:p.Gly863Glu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	212	53	0.25	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.492	-0.554404	0.03996	.	.	ENSG00000169876	ENST00000306151	T	0.03553	3.89	1.14	-2.29	0.06805	.	.	.	.	.	T	0.01905	0.0060	L	0.29908	0.895	0.09310	N	1	B	0.24186	0.099	B	0.12837	0.008	T	0.47509	-0.9112	9	0.02654	T	1	.	2.5676	0.04787	0.2144:0.0:0.3644:0.4212	.	863	Q685J3	MUC17_HUMAN	E	863	ENSP00000302716:G863E	ENSP00000302716:G863E	G	+	2	0	MUC17	100464005	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.987000	0.29603	-0.747000	0.04759	0.196000	0.17591	GGA	G|0.988;A|0.013	0.013	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677285	G	A	100677285	3	1	22	1	0	0	0	0	1	0	0	0	9974	1174	41	2	2598	2	MUC17	7	100677285	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	100677285	58461378	4329	9437	188	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677378	100677378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcctgttgacaccagcaCacctgtgaccaattctactg	6	14	1	2	rs143956720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677378C>A	ENST00000306151.4	+	3	2745	c.2681C>A	c.(2680-2682)aCa>aAa	p.T894K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	894	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)					GACACCAGCACACCTGTGACC	0.498																																					p.T894K		Atlas-SNP	.											MUC17,NS,lymphoid_neoplasm,0,1	MUC17	804	1	0			c.C2681A						PASS	.	C	LYS/THR	350,4056	140.4+/-175.9	0,350,1853	297	290	292		2681	0.3	0	7	dbSNP_134	292	167,8433	48.9+/-108.6	0,167,4133	no	missense	MUC17	NM_001040105.1	78	0,517,5986	AA,AC,CC		1.9419,7.9437,3.9751	probably-damaging	894/4494	100677378	517,12489	2203	4300	6503	SO:0001583	missense	140453	exon3			CCAGCACACCTGT	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.2681C>A	7.37:g.100677378C>A	ENSP00000302716:p.Thr894Lys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	165	35	0.212121	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.749	-0.052049	0.07362	0.079437	0.019419	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.25	0.305	0.15801	.	.	.	.	.	T	0.00178	0.0005	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.52267	0.694	T	0.52609	-0.8553	9	0.27082	T	0.32	.	5.4285	0.16440	0.0:0.7817:0.0:0.2183	.	894	Q685J3	MUC17_HUMAN	K	894	ENSP00000302716:T894K	ENSP00000302716:T894K	T	+	2	0	MUC17	100464098	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.259000	0.18405	0.099000	0.17552	0.196000	0.17591	ACA	C|0.958;A|0.042	0.042	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677378	C	A	100677378	3	1	22	1	0	0	0	0	1	0	0	0	9974	478	17	4	2691	4	MUC17	7	100677378	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93	100677378	58461285	4330	9438			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677405	100677405	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccaattctactgaagcccGttcgtctcctacaacttctg					rs141963257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677405G>A	ENST00000306151.4	+	3	2772	c.2708G>A	c.(2707-2709)cGt>cAt	p.R903H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	903	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)					ACTGAAGCCCGTTCGTCTCCT	0.527													g|||	903	0.180312	0.2413	0.0836	5008	,	,		32677	0.1944		0.0964	False		,,,				2504	0.2382				p.R903H		Atlas-SNP	.											.	MUC17	804	.	0			c.G2708A						PASS	.						318	302	307					7																	100677405		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGCCCGTTCGTC	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.2708G>A	7.37:g.100677405G>A	ENSP00000302716:p.Arg903His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	161	34	0.21118	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.072	-1.199648	0.01581	.	.	ENSG00000169876	ENST00000306151	T	0.02890	4.12	0.579	-1.16	0.09678	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45041	-0.9288	9	0.40728	T	0.16	.	4.33	0.11059	0.2123:0.3746:0.4131:0.0	.	903	Q685J3	MUC17_HUMAN	H	903	ENSP00000302716:R903H	ENSP00000302716:R903H	R	+	2	0	MUC17	100464125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.209000	0.01228	-3.371000	0.00177	-3.222000	0.00052	CGT	.	.	weak		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677405	G	A	100677405	3	1	22	1	0	0	0	0	1	0	0	0	9974	1145	40	1	2718	1	MUC17	7	100677405	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	100677405	58461258	4331	9439	189	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677415	100677415	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaagcccgttcgtctccTacaacttctgaaggtaccag					rs57597607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677415T>C	ENST00000306151.4	+	3	2782	c.2718T>C	c.(2716-2718)ccT>ccC	p.P906P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	906	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)					GTTCGTCTCCTACAACTTCTG	0.527																																					p.P906P		Atlas-SNP	.											.	MUC17	804	.	0			c.T2718C						PASS	.	T		24,4382	21.2+/-45.6	0,24,2179	323	305	311		2718	-2.2	0	7	dbSNP_129	311	10,8590	2.2+/-6.3	0,10,4290	no	coding-synonymous	MUC17	NM_001040105.1		0,34,6469	CC,CT,TT		0.1163,0.5447,0.2614		906/4494	100677415	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			GTCTCCTACAACT	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.2718T>C	7.37:g.100677415T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	169	37	0.218935	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.933;C|0.067	0.067	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677415	T	C	100677415	2	2	22	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100677415	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	100677415	58461248	4332	9440	189	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677457	100677457	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccaacctcaactcctggGgaaggaagcactccattaac	8	13	1	0	rs59155935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677457G>T	ENST00000306151.4	+	3	2824	c.2760G>T	c.(2758-2760)ggG>ggT	p.G920G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	920	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)					CAACTCCTGGGGAAGGAAGCA	0.517													T|||	68	0.0135783	0.0431	0.0043	5008	,	,		33068	0.002		0.002	False		,,,				2504	0.0041				p.G920G		Atlas-SNP	.											.	MUC17	804	.	0			c.G2760T						PASS	.	T		10,4396	823.5+/-416.5	0,10,2193	365	326	339		2760	-2.4	0	7	dbSNP_129	339	4,8596	818.2+/-406.9	0,4,4296	no	coding-synonymous	MUC17	NM_001040105.1		0,14,6489	TT,TG,GG		0.0465,0.227,0.1076		920/4494	100677457	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TCCTGGGGAAGGA	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.2760G>T	7.37:g.100677457G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	197	44	0.22335	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.951;T|0.049	0.049	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677457	G	T	100677457	2	4	22	1	0	0	0	0	0	0	0	1	9974	1219	43	4		4	MUC17	7	100677457	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42	100677457	58461206	4333	9441			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677502	100677502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcctgacagcaccacgccGgtagtcagttctgaggctag	12	12	2	2	rs10267904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677502G>A	ENST00000306151.4	+	3	2869	c.2805G>A	c.(2803-2805)ccG>ccA	p.P935P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	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)					GCACCACGCCGGTAGTCAGTT	0.517																																					p.P935P		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+2,1	MUC17	804	1	0			c.G2805A						PASS	.	G		706,3700		0,706,1497	376	325	342		2805	-2.4	0	7	dbSNP_119	342	866,7734		0,866,3434	no	coding-synonymous	MUC17	NM_001040105.1		0,1572,4931	AA,AG,GG		10.0698,16.0236,12.0867		935/4494	100677502	1572,11434	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.2805G>A	7.37:g.100677502G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	242	55	0.227273	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.969;A|0.031	0.031	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677502	G	A	100677502	2	1	22	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100677502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45	100677502	58461161	4334	9442			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677516	100677516	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgccggtagtcagttctgAggctagaacactttcagcaa					rs58478927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677516A>G	ENST00000306151.4	+	3	2883	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	940	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)					GTCAGTTCTGAGGCTAGAACA	0.502													A|||	330	0.0658946	0.0756	0.0043	5008	,	,		36868	0.1042		0.003	False		,,,				2504	0.1217				p.E940G		Atlas-SNP	.											.	MUC17	804	.	0			c.A2819G						PASS	.						356	316	329					7																	100677516		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTCTGAGGCTAG	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.2819A>G	7.37:g.100677516A>G	ENSP00000302716:p.Glu940Gly	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	226	38	0.168142	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.952	-0.216452	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	1.19	-2.38	0.06622	.	.	.	.	.	T	0.01765	0.0056	N	0.24115	0.695	0.09310	N	1	B	0.31931	0.347	B	0.23018	0.043	T	0.47923	-0.9079	9	0.22706	T	0.39	.	7.5159	0.27600	0.3362:0.6638:0.0:0.0	rs58478927	940	Q685J3	MUC17_HUMAN	G	940	ENSP00000302716:E940G	ENSP00000302716:E940G	E	+	2	0	MUC17	100464236	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.870000	0.01641	-0.830000	0.04262	0.113000	0.15668	GAG	A|0.995;G|0.005	0.005	strong		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677516	A	G	100677516	3	3	22	1	0	0	0	0	1	0	0	0	9974	304	11	3	2829	3	MUC17	7	100677516	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14	100677516	58461147	4335	9443	190	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677519	100677519	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggtagtcagttctgaggCtagaacactttcagcaactc					rs148817224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677519C>T	ENST00000306151.4	+	3	2886	c.2822C>T	c.(2821-2823)gCt>gTt	p.A941V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	941	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)					AGTTCTGAGGCTAGAACACTT	0.507													C|||	330	0.0658946	0.0756	0.0043	5008	,	,		32604	0.1042		0.003	False		,,,				2504	0.1217				p.A941V		Atlas-SNP	.											.	MUC17	804	.	0			c.C2822T						PASS	.						352	314	327					7																	100677519		2203	4300	6503	SO:0001583	missense	140453	exon3			CTGAGGCTAGAAC	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.2822C>T	7.37:g.100677519C>T	ENSP00000302716:p.Ala941Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	224	36	0.160714	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015797	0.07959	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	1.19	-1.29	0.09288	.	.	.	.	.	T	0.01523	0.0049	N	0.11560	0.145	0.09310	N	1	B	0.20671	0.047	B	0.09377	0.004	T	0.46303	-0.9201	9	0.39692	T	0.17	.	3.6812	0.08310	0.0:0.5433:0.258:0.1987	.	941	Q685J3	MUC17_HUMAN	V	941	ENSP00000302716:A941V	ENSP00000302716:A941V	A	+	2	0	MUC17	100464239	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.131000	0.10482	-0.380000	0.07894	0.134000	0.15878	GCT	C|0.993;T|0.007	0.007	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677519	C	T	100677519	3	4	22	1	0	0	0	0	1	0	0	0	9974	797	28	2	2832	2	MUC17	7	100677519	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	100677519	58461144	4336	9444	190	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677523	100677523	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagtcagttctgaggctagAacactttcagcaactcctgt					rs10238201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677523A>C	ENST00000306151.4	+	3	2890	c.2826A>C	c.(2824-2826)agA>agC	p.R942S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	942	59 X approximate tandem repeats.|Ser-rich.		R -> S (in dbSNP:rs10238201).		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)					CTGAGGCTAGAACACTTTCAG	0.512													C|||	886	0.176917	0.2572	0.0879	5008	,	,		34163	0.1617		0.1103	False		,,,				2504	0.2157				p.R942S		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.A2826C						scavenged	.	C	SER/ARG	227,4179	779.7+/-414.4	0,227,1976	347	310	323		2826	-1.7	0	7	dbSNP_119	323	271,8329	790.0+/-407.6	0,271,4029	no	missense	MUC17	NM_001040105.1	110	0,498,6005	CC,CA,AA		3.1512,5.1521,3.829	benign	942/4494	100677523	498,12508	2203	4300	6503	SO:0001583	missense	140453	exon3			GGCTAGAACACTT	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.2826A>C	7.37:g.100677523A>C	ENSP00000302716:p.Arg942Ser	Somatic	133	3	0.0225564		WXS	Illumina HiSeq	Phase_I	222	87	0.391892	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	216	0.0989010989010989	72	0.14634146341463414	28	0.07734806629834254	52	0.09090909090909091	64	0.08443271767810026	C	1.927	-0.446949	0.04572	0.051521	0.031512	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34453	-0.9828	9	0.02654	T	1	.	3.2808	0.06915	0.3868:0.4201:0.0:0.1932	rs10238201	942	Q685J3	MUC17_HUMAN	S	942	ENSP00000302716:R942S	ENSP00000302716:R942S	R	+	3	2	MUC17	100464243	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.481000	0.00982	-2.432000	0.00556	-1.396000	0.01147	AGA	A|0.908;C|0.092	0.092	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677523	A	C	100677523	3	2	22	1	0	0	0	0	1	0	0	0	9974	243	9	5	2836	5	MUC17	7	100677523	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	100677523	58461140	4337	9445	190	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677556	100677556	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcctgttgacaccagcacAcctgtgaccacttctactga	6	15	1	3	rs4373459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677556A>C	ENST00000306151.4	+	3	2923	c.2859A>C	c.(2857-2859)acA>acC	p.T953T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	953	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)					ACACCAGCACACCTGTGACCA	0.498																																					p.T953T		Atlas-SNP	.											MUC17,colon,carcinoma,0,1	MUC17	804	1	0			c.A2859C						scavenged	.	A		426,3980	162.9+/-194.8	0,426,1777	317	293	301		2859	-0.2	0	7	dbSNP_111	301	518,8082	119.5+/-178.9	0,518,3782	no	coding-synonymous	MUC17	NM_001040105.1		0,944,5559	CC,CA,AA		6.0233,9.6686,7.2582		953/4494	100677556	944,12062	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CAGCACACCTGTG	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.2859A>C	7.37:g.100677556A>C		Somatic	153	3	0.0196078		WXS	Illumina HiSeq	Phase_I	245	62	0.253061	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.947;C|0.053	0.053	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677556	A	C	100677556	2	2	22	1	0	0	0	0	0	0	0	1	9974	146	6	5		5	MUC17	7	100677556	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	100677556	58461107	4338	9446			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677572	100677572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacacctgtgaccacttctActgaagccacttcatctcct	5	16	3	2	rs60940057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677572A>G	ENST00000306151.4	+	3	2939	c.2875A>G	c.(2875-2877)Act>Gct	p.T959A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	959	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)					GACCACTTCTACTGAAGCCAC	0.498																																					p.T959A		Atlas-SNP	.											.	MUC17	804	.	0			c.A2875G						PASS	.	A	ALA/THR	293,4113	129.4+/-166.1	0,293,1910	305	290	295		2875	-2.4	0	7	dbSNP_129	295	277,8319	80.6+/-143.3	0,277,4021	no	missense	MUC17	NM_001040105.1	58	0,570,5931	GG,GA,AA		3.2224,6.65,4.3839	benign	959/4494	100677572	570,12432	2203	4298	6501	SO:0001583	missense	140453	exon3			ACTTCTACTGAAG	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.2875A>G	7.37:g.100677572A>G	ENSP00000302716:p.Thr959Ala	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	232	55	0.237069	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.937	-0.444524	0.04604	0.0665	0.032224	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.19	-2.38	0.06622	.	.	.	.	.	T	0.00144	0.0004	N	0.17082	0.46	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.46721	-0.9171	9	0.23302	T	0.38	.	4.0165	0.09646	0.2761:0.4:0.3239:0.0	rs60940057	959	Q685J3	MUC17_HUMAN	A	959	ENSP00000302716:T959A	ENSP00000302716:T959A	T	+	1	0	MUC17	100464292	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.865000	0.00724	-1.347000	0.02208	0.113000	0.15668	ACT	A|0.946;G|0.054	0.054	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677572	A	G	100677572	3	3	22	1	0	0	0	0	1	0	0	0	9974	391	14	2	2885	2	MUC17	7	100677572	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	100677572	58461091	4339	9447			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677586	100677586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttctactgaagccacttcAtctcctacaactgctgaagg	6	13	3	2	rs189731103		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677586A>G	ENST00000306151.4	+	3	2953	c.2889A>G	c.(2887-2889)tcA>tcG	p.S963S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	963	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)					AAGCCACTTCATCTCCTACAA	0.527																																					p.S963S		Atlas-SNP	.											.	MUC17	804	.	0			c.A2889G						PASS	.	A		626,3780		0,626,1577	329	308	316		2889	-0.7	0	7	dbSNP_134	316	572,8028		0,572,3728	no	coding-synonymous	MUC17	NM_001040105.1		0,1198,5305	GG,GA,AA		6.6512,14.2079,9.2111		963/4494	100677586	1198,11808	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACTTCATCTCCT	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.2889A>G	7.37:g.100677586A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	227	46	0.202643	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.999;G|0.001	0.001	weak		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677586	A	G	100677586	2	3	22	1	0	0	0	0	0	0	0	1	9974	204	8	2		2	MUC17	7	100677586	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14	100677586	58461077	4340	9448			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677625	100677625	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaccagcataccaacctcGactcctagtgaaggaacgac					rs115078078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677625G>A	ENST00000306151.4	+	3	2992	c.2928G>A	c.(2926-2928)tcG>tcA	p.S976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	976	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)					TACCAACCTCGACTCCTAGTG	0.507																																					p.S976S		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.G2928A						scavenged	.	A		154,4252	793.6+/-415.2	0,154,2049	352	328	336		2928	-1.5	0	7	dbSNP_133	336	106,8494	808.3+/-407.2	0,106,4194	no	coding-synonymous	MUC17	NM_001040105.1		0,260,6243	AA,AG,GG		1.2326,3.4952,1.9991		976/4494	100677625	260,12746	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACCTCGACTCCT	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.2928G>A	7.37:g.100677625G>A		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	257	48	0.18677	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.964;A|0.036	0.036	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677625	G	A	100677625	2	1	22	1	0	0	0	0	0	0	0	1	9974	1045	37	1		1	MUC17	7	100677625	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39	100677625	58461038	4341	9449	191	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677630	100677630	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcataccaacctcgactcCtagtgaaggaacgactccat					rs78990442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677630C>T	ENST00000306151.4	+	3	2997	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	978	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)					ACCTCGACTCCTAGTGAAGGA	0.512													C|||	1003	0.20028	0.2678	0.0994	5008	,	,		34431	0.2282		0.1113	False		,,,				2504	0.2434				p.P978L		Atlas-SNP	.											.	MUC17	804	.	0			c.C2933T						PASS	.	C	LEU/PRO	912,3494		0,912,1291	355	332	340		2933	0.6	0	7	dbSNP_131	340	814,7786		0,814,3486	no	missense	MUC17	NM_001040105.1	98	0,1726,4777	TT,TC,CC		9.4651,20.699,13.2708	probably-damaging	978/4494	100677630	1726,11280	2203	4300	6503	SO:0001583	missense	140453	exon3			CGACTCCTAGTGA	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.2933C>T	7.37:g.100677630C>T	ENSP00000302716:p.Pro978Leu	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	259	124	0.478764	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.251	0.045554	0.08196	0.20699	0.094651	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.632	0.632	0.17705	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.21604	N	0.999623	D	0.76494	0.999	D	0.71184	0.972	T	0.50608	-0.8808	9	0.13853	T	0.58	.	7.1889	0.25814	0.0:0.9999:0.0:1.0E-4	.	978	Q685J3	MUC17_HUMAN	L	978	ENSP00000302716:P978L	ENSP00000302716:P978L	P	+	2	0	MUC17	100464350	0.000000	0.05858	0.013000	0.15412	0.007000	0.05969	-0.008000	0.12788	0.647000	0.30713	0.134000	0.15878	CCT	C|0.935;T|0.065	0.065	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677630	C	T	100677630	3	4	22	1	0	0	0	0	1	0	0	0	9974	681	24	2	2943	2	MUC17	7	100677630	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	100677630	58461033	4342	9450	191	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677645	100677645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcctagtgaaggaacgaCtccattaacaagcacacctg	8	12	0	1	rs114262718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677645C>A	ENST00000306151.4	+	3	3012	c.2948C>A	c.(2947-2949)aCt>aAt	p.T983N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	983	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)					GAAGGAACGACTCCATTAACA	0.512																																					p.T983N		Atlas-SNP	.											.	MUC17	804	.	0			c.C2948A						PASS	.	C	ASN/THR	294,4112	131.8+/-168.3	0,294,1909	370	334	346		2948	0.4	0	7	dbSNP_133	346	181,8419	61.0+/-122.8	0,181,4119	no	missense	MUC17	NM_001040105.1	65	0,475,6028	AA,AC,CC		2.1047,6.6727,3.6522	probably-damaging	983/4494	100677645	475,12531	2203	4300	6503	SO:0001583	missense	140453	exon3			GAACGACTCCATT	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.2948C>A	7.37:g.100677645C>A	ENSP00000302716:p.Thr983Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	270	53	0.196296	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.988	-0.432413	0.04669	0.066727	0.021047	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.373	0.373	0.16178	.	.	.	.	.	T	0.00412	0.0013	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.50065	-0.8871	9	0.49607	T	0.09	.	6.6259	0.22828	0.0:0.9998:0.0:2.0E-4	.	983	Q685J3	MUC17_HUMAN	N	983	ENSP00000302716:T983N	ENSP00000302716:T983N	T	+	2	0	MUC17	100464365	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.193000	0.17116	0.472000	0.27344	0.134000	0.15878	ACT	C|0.936;A|0.064	0.064	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677645	C	A	100677645	3	1	22	1	0	0	0	0	1	0	0	0	9974	565	20	4	2958	4	MUC17	7	100677645	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	100677645	58461018	4343	9451			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677714	100677714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctagcaccctttcaacaaCtcctgttgactccaacactc	5	16	1	1	rs79432420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677714C>T	ENST00000306151.4	+	3	3081	c.3017C>T	c.(3016-3018)aCt>aTt	p.T1006I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1006	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)					CTTTCAACAACTCCTGTTGAC	0.512																																					p.T1006I		Atlas-SNP	.											.	MUC17	804	.	0			c.C3017T						PASS	.	C	ILE/THR	815,3591		0,815,1388	393	332	353		3017	0.7	0	7	dbSNP_131	353	728,7872		0,728,3572	no	missense	MUC17	NM_001040105.1	89	0,1543,4960	TT,TC,CC		8.4651,18.4975,11.8638	probably-damaging	1006/4494	100677714	1543,11463	2203	4300	6503	SO:0001583	missense	140453	exon3			CAACAACTCCTGT	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.3017C>T	7.37:g.100677714C>T	ENSP00000302716:p.Thr1006Ile	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	289	61	0.211073	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.251	-0.153209	0.06585	0.184975	0.084651	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.74	0.74	0.18330	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.65684	0.937	T	0.58025	-0.7709	9	0.30854	T	0.27	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1006	Q685J3	MUC17_HUMAN	I	1006	ENSP00000302716:T1006I	ENSP00000302716:T1006I	T	+	2	0	MUC17	100464434	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	-0.005000	0.12855	0.720000	0.32209	0.134000	0.15878	ACT	C|0.989;T|0.011	0.011	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677714	C	T	100677714	3	4	22	1	0	0	0	0	1	0	0	0	9974	565	20	2	3027	2	MUC17	7	100677714	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69	100677714	58460949	4344	9452			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677816	100677816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctcaactcctagtgaagGaagcactccattaacacgta	6	12	1	1	rs77671499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677816G>A	ENST00000306151.4	+	3	3183	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1040	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)					CCTAGTGAAGGAAGCACTCCA	0.517																																					p.G1040E		Atlas-SNP	.											.	MUC17	804	.	0			c.G3119A						PASS	.	G	GLU/GLY	370,4036		0,370,1833	518	404	442		3119	-1	0	7	dbSNP_131	442	596,8004		0,596,3704	no	missense	MUC17	NM_001040105.1	98	0,966,5537	AA,AG,GG		6.9302,8.3976,7.4273	benign	1040/4494	100677816	966,12040	2203	4300	6503	SO:0001583	missense	140453	exon3			GTGAAGGAAGCAC	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.3119G>A	7.37:g.100677816G>A	ENSP00000302716:p.Gly1040Glu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	294	71	0.241497	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.823	-0.748080	0.03065	0.083976	0.069302	ENSG00000169876	ENST00000306151	T	0.03553	3.89	0.481	-0.962	0.10333	.	.	.	.	.	T	0.00178	0.0005	L	0.29908	0.895	0.09310	N	1	B	0.20261	0.043	B	0.08055	0.003	T	0.48031	-0.9070	9	0.08381	T	0.77	.	6.1942	0.20540	0.0:0.6044:0.3955:0.0	.	1040	Q685J3	MUC17_HUMAN	E	1040	ENSP00000302716:G1040E	ENSP00000302716:G1040E	G	+	2	0	MUC17	100464536	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.771000	0.04699	-0.577000	0.05967	0.134000	0.15878	GGA	G|0.981;A|0.019	0.019	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677816	G	A	100677816	3	1	22	1	0	0	0	0	1	0	0	0	9974	1174	41	2	3129	2	MUC17	7	100677816	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	102	100677816	58460847	4345	9453			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677974	100677974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacggtaccagcatgccaAcctcaacttatagtgaagga	9	11	1	2	rs113876641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677974A>G	ENST00000306151.4	+	3	3341	c.3277A>G	c.(3277-3279)Acc>Gcc	p.T1093A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1093	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)					CAGCATGCCAACCTCAACTTA	0.507																																					p.T1093A		Atlas-SNP	.											.	MUC17	804	.	0			c.A3277G						PASS	.						479	385	417					7																	100677974		2203	4300	6503	SO:0001583	missense	140453	exon3			ATGCCAACCTCAA	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.3277A>G	7.37:g.100677974A>G	ENSP00000302716:p.Thr1093Ala	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	398	57	0.143216	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.073	-0.669248	0.03403	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.693	-0.692	0.11301	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	P	0.37985	0.613	B	0.25140	0.058	T	0.46638	-0.9177	9	0.10902	T	0.67	.	4.0642	0.09852	0.7272:0.0:0.2728:0.0	.	1093	Q685J3	MUC17_HUMAN	A	1093	ENSP00000302716:T1093A	ENSP00000302716:T1093A	T	+	1	0	MUC17	100464694	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.411000	0.07142	-0.284000	0.09102	0.165000	0.16767	ACC	A|0.998;G|0.002	0.002	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677974	A	G	100677974	3	3	22	1	0	0	0	0	1	0	0	0	9974	43	2	2	3287	2	MUC17	7	100677974	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	158	100677974	58460689	4346	9454			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100677995	100677995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaacttatagtgaaggaAgcactccactaacaagtgtg	8	10	1	1	rs149287079		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100677995A>G	ENST00000306151.4	+	3	3362	c.3298A>G	c.(3298-3300)Agc>Ggc	p.S1100G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1100	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)					TAGTGAAGGAAGCACTCCACT	0.517																																					p.S1100G		Atlas-SNP	.											.	MUC17	804	.	0			c.A3298G						PASS	.						490	389	423					7																	100677995		2203	4300	6503	SO:0001583	missense	140453	exon3			GAAGGAAGCACTC	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.3298A>G	7.37:g.100677995A>G	ENSP00000302716:p.Ser1100Gly	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	385	54	0.14026	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.119	-1.127913	0.01770	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.693	-1.39	0.08997	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.46721	-0.9171	9	0.25751	T	0.34	.	2.8064	0.05429	0.5265:0.2609:0.2126:0.0	.	1100	Q685J3	MUC17_HUMAN	G	1100	ENSP00000302716:S1100G	ENSP00000302716:S1100G	S	+	1	0	MUC17	100464715	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.232000	0.02936	-1.186000	0.02713	-1.357000	0.01221	AGC	.	.	weak		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677995	A	G	100677995	3	3	22	1	0	0	0	0	1	0	0	0	9974	72	3	3	3308	3	MUC17	7	100677995	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21	100677995	58460668	4347	9455			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678013	100678013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcactccactaacaagtGtgcctgtcagcaccaggctg	10	13	1	0	rs75312831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678013G>A	ENST00000306151.4	+	3	3380	c.3316G>A	c.(3316-3318)Gtg>Atg	p.V1106M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1106	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)					ACTAACAAGTGTGCCTGTCAG	0.507																																					p.V1106M		Atlas-SNP	.											MUC17,NS,carcinoma,-2,1	MUC17	804	1	0			c.G3316A						scavenged	.	A	MET/VAL	242,4164	121.3+/-158.8	0,242,1961	496	393	428		3316	-1.6	0	7	dbSNP_131	428	151,8449	62.8+/-124.8	0,151,4149	no	missense	MUC17	NM_001040105.1	21	0,393,6110	AA,AG,GG		1.7558,5.4925,3.0217	benign	1106/4494	100678013	393,12613	2203	4300	6503	SO:0001583	missense	140453	exon3			ACAAGTGTGCCTG	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.3316G>A	7.37:g.100678013G>A	ENSP00000302716:p.Val1106Met	Somatic	166	2	0.0120482		WXS	Illumina HiSeq	Phase_I	379	65	0.171504	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.067	-1.211056	0.01555	0.054925	0.017558	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.801	-1.6	0.08426	.	.	.	.	.	T	0.00241	0.0007	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.43475	-0.9389	9	0.28530	T	0.3	.	0.7416	0.00975	0.3295:0.1734:0.324:0.173	.	1106	Q685J3	MUC17_HUMAN	M	1106	ENSP00000302716:V1106M	ENSP00000302716:V1106M	V	+	1	0	MUC17	100464733	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.810000	0.01729	-2.966000	0.00288	-1.214000	0.01621	GTG	A|0.022;G|0.978	0.022	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678013	G	A	100678013	3	1	22	1	0	0	0	0	1	0	0	0	9974	1377	48	2	3326	2	MUC17	7	100678013	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	100678013	58460650	4348	9456			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678032	100678032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcctgtcagcaccaggcTggtggtcagttctgaggcta	14	10	3	1	rs147173571		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678032T>C	ENST00000306151.4	+	3	3399	c.3335T>C	c.(3334-3336)cTg>cCg	p.L1112P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1112	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)					AGCACCAGGCTGGTGGTCAGT	0.512																																					p.L1112P		Atlas-SNP	.											.	MUC17	804	.	0			c.T3335C						PASS	.						494	394	428					7																	100678032		2203	4300	6503	SO:0001583	missense	140453	exon3			CCAGGCTGGTGGT	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.3335T>C	7.37:g.100678032T>C	ENSP00000302716:p.Leu1112Pro	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	352	33	0.09375	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093913	0.01858	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.693	-0.391	0.12446	.	.	.	.	.	T	0.01320	0.0043	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48055	-0.9068	8	0.25751	T	0.34	.	.	.	.	.	1112	Q685J3	MUC17_HUMAN	P	1112	ENSP00000302716:L1112P	ENSP00000302716:L1112P	L	+	2	0	MUC17	100464752	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-6.070000	0.00082	-0.165000	0.10908	-1.364000	0.01208	CTG	.	.	weak		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678032	T	C	100678032	3	2	22	1	0	0	0	0	1	0	0	0	9974	1580	55	3	3345	3	MUC17	7	100678032	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19	100678032	58460631	4349	9457			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678372	100678372	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actccattaacaagtatgccTgtcagacacacgccagtggc	8	13	1	1	rs11769823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678372T>G	ENST00000306151.4	+	3	3739	c.3675T>G	c.(3673-3675)ccT>ccG	p.P1225P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1225	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)					CAAGTATGCCTGTCAGACACA	0.517																																					p.P1225P		Atlas-SNP	.											.	MUC17	804	.	0			c.T3675G						PASS	.	T		615,3791		0,615,1588	312	292	299		3675	-1.5	0	7	dbSNP_120	299	777,7823		0,777,3523	no	coding-synonymous	MUC17	NM_001040105.1		0,1392,5111	GG,GT,TT		9.0349,13.9582,10.7028		1225/4494	100678372	1392,11614	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TATGCCTGTCAGA	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.3675T>G	7.37:g.100678372T>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	186	39	0.209677	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.914;G|0.086	0.086	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678372	T	G	100678372	2	3	22	1	0	0	0	0	0	0	0	1	9974	1567	55	5		5	MUC17	7	100678372	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	340	100678372	58460291	4350	9458			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678405	100678405	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtggccagttctgaggcTagcaccctttcaacatctcc					rs4729648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678405T>C	ENST00000306151.4	+	3	3772	c.3708T>C	c.(3706-3708)gcT>gcC	p.A1236A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1236	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)					GTTCTGAGGCTAGCACCCTTT	0.522													T|||	989	0.197484	0.2663	0.0893	5008	,	,		30674	0.2212		0.1083	False		,,,				2504	0.2485				p.A1236A		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.T3708C						PASS	.	T		340,4066	144.2+/-179.2	0,340,1863	305	293	297		3708	-0.9	0	7	dbSNP_111	297	209,8391	66.0+/-128.3	0,209,4091	no	coding-synonymous	MUC17	NM_001040105.1		0,549,5954	CC,CT,TT		2.4302,7.7167,4.2211		1236/4494	100678405	549,12457	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TGAGGCTAGCACC	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.3708T>C	7.37:g.100678405T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	155	27	0.174194	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.936;C|0.064	0.064	strong		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678405	T	C	100678405	2	2	22	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100678405	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33	100678405	58460258	4351	9459	192	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678407	100678407	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggccagttctgaggctaGcaccctttcaacatctcccg					rs4729649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678407G>A	ENST00000306151.4	+	3	3774	c.3710G>A	c.(3709-3711)aGc>aAc	p.S1237N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1237	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)					TCTGAGGCTAGCACCCTTTCA	0.527													G|||	989	0.197484	0.2663	0.0893	5008	,	,		29474	0.2212		0.1083	False		,,,				2504	0.2485				p.S1237N		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.G3710A						PASS	.	G	ASN/SER	354,4052	149.2+/-183.4	0,354,1849	303	291	295		3710	-1.7	0	7	dbSNP_111	295	220,8380	66.0+/-128.3	0,220,4080	no	missense	MUC17	NM_001040105.1	46	0,574,5929	AA,AG,GG		2.5581,8.0345,4.4133	benign	1237/4494	100678407	574,12432	2203	4300	6503	SO:0001583	missense	140453	exon3			AGGCTAGCACCCT	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.3710G>A	7.37:g.100678407G>A	ENSP00000302716:p.Ser1237Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	154	26	0.168831	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.984	-0.696233	0.03279	0.080345	0.025581	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.47235	-0.9133	9	0.26408	T	0.33	.	2.9027	0.05711	0.0:0.3166:0.4155:0.2679	rs4729649	1237	Q685J3	MUC17_HUMAN	N	1237	ENSP00000302716:S1237N	ENSP00000302716:S1237N	S	+	2	0	MUC17	100465127	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.728000	0.00807	-1.139000	0.02881	0.134000	0.15878	AGC	G|0.948;A|0.052	0.052	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678407	G	A	100678407	3	1	22	1	0	0	0	0	1	0	0	0	9974	971	34	2	3720	2	MUC17	7	100678407	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	100678407	58460256	4352	9460	192	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678421	100678421	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctagcaccctttcaacaTctcccgttgacaccagcaca	6	16	2	1	rs200902631|rs10265276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678421T>A	ENST00000306151.4	+	3	3788	c.3724T>A	c.(3724-3726)Tct>Act	p.S1242T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1242	59 X approximate tandem repeats.|Ser-rich.		S -> T (in dbSNP:rs10265276).		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)					CCTTTCAACATCTCCCGTTGA	0.517													A|||	1177	0.235024	0.3389	0.1009	5008	,	,		29246	0.253		0.1213	False		,,,				2504	0.2883				p.S1242T		Atlas-SNP	.											MUC17,NS,carcinoma,-1,1	MUC17	804	1	0			c.T3724A						PASS	.	A	THR/SER	1322,3084	695.6+/-406.0	206,910,1087	288	284	286		3724	-1.7	0	7	dbSNP_119	286	999,7601	773.2+/-407.7	57,885,3358	no	missense	MUC17	NM_001040105.1	58	263,1795,4445	AA,AT,TT		11.6163,30.0045,17.8456	benign	1242/4494	100678421	2321,10685	2203	4300	6503	SO:0001583	missense	140453	exon3			TCAACATCTCCCG	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.3724T>A	7.37:g.100678421T>A	ENSP00000302716:p.Ser1242Thr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	149	83	0.557047	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	471	0.21565934065934067	160	0.3252032520325203	46	0.1270718232044199	161	0.28146853146853146	104	0.13720316622691292	A	1.120	-0.655521	0.03480	0.300045	0.116163	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35871	-0.9771	8	0.09084	T	0.74	.	2.3789	0.04349	0.3049:0.2132:0.0:0.4819	rs10265276;rs59394740	1242	Q685J3	MUC17_HUMAN	T	1242	ENSP00000302716:S1242T	ENSP00000302716:S1242T	S	+	1	0	MUC17	100465141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.179000	0.03090	-2.874000	0.00322	-1.617000	0.00794	TCT	T|0.819;A|0.181	0.181	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678421	T	A	100678421	3	1	22	1	0	0	0	0	1	0	0	0	9974	1435	50	5	3734	5	MUC17	7	100678421	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	100678421	58460242	4353	9461			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678481	100678481	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaccagttcctctcctacaAccgctgaaggtaccagcttg					rs73168389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678481A>T	ENST00000306151.4	+	3	3848	c.3784A>T	c.(3784-3786)Acc>Tcc	p.T1262S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1262	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)					CTCTCCTACAACCGCTGAAGG	0.527																																					p.T1262S		Atlas-SNP	.											.	MUC17	804	.	0			c.A3784T						PASS	.	T	SER/THR	586,3820		0,586,1617	284	275	278		3784	-0.9	0	7	dbSNP_130	278	392,8208		0,392,3908	no	missense	MUC17	NM_001040105.1	58	0,978,5525	TT,TA,AA		4.5581,13.3,7.5196	probably-damaging	1262/4494	100678481	978,12028	2203	4300	6503	SO:0001583	missense	140453	exon3			CCTACAACCGCTG	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.3784A>T	7.37:g.100678481A>T	ENSP00000302716:p.Thr1262Ser	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	133	22	0.165414	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.210490	0.01555	0.133	0.045581	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.438	-0.877	0.10621	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	D	0.55385	0.971	B	0.42188	0.379	T	0.20538	-1.0272	8	0.06494	T	0.89	.	.	.	.	.	1262	Q685J3	MUC17_HUMAN	S	1262	ENSP00000302716:T1262S	ENSP00000302716:T1262S	T	+	1	0	MUC17	100465201	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-1.637000	0.02015	-1.145000	0.02858	-1.640000	0.00773	ACC	A|0.973;T|0.027	0.027	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678481	A	T	100678481	3	4	22	1	0	0	0	0	1	0	0	0	9974	43	2	5	3794	5	MUC17	7	100678481	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60	100678481	58460182	4354	9462	193	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678483	100678483	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagttcctctcctacaacCgctgaaggtaccagcttgcc					rs73168390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678483C>T	ENST00000306151.4	+	3	3850	c.3786C>T	c.(3784-3786)acC>acT	p.T1262T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1262	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)					CTCCTACAACCGCTGAAGGTA	0.522																																					p.T1262T		Atlas-SNP	.											.	MUC17	804	.	0			c.C3786T						PASS	.	C		577,3829		0,577,1626	285	275	278		3786	-1.3	0	7	dbSNP_130	278	376,8224		0,376,3924	no	coding-synonymous	MUC17	NM_001040105.1		0,953,5550	TT,TC,CC		4.3721,13.0958,7.3274		1262/4494	100678483	953,12053	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TACAACCGCTGAA	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.3786C>T	7.37:g.100678483C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	139	26	0.18705	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.975;T|0.025	0.025	strong		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678483	C	T	100678483	2	4	22	1	0	0	0	0	0	0	0	1	9974	639	23	1		1	MUC17	7	100678483	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	100678483	58460180	4355	9463	193	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678527	100678527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaactactagtgaaggaaGtactctattaacaagtatac	6	8	2	1	rs73402889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678527G>T	ENST00000306151.4	+	3	3894	c.3830G>T	c.(3829-3831)aGt>aTt	p.S1277I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1277	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)					AGTGAAGGAAGTACTCTATTA	0.498																																					p.S1277I		Atlas-SNP	.											MUC17,adrenal_gland,adrenal_cortical_adenoma,0,1	MUC17	804	1	0			c.G3830T						PASS	.	G	ILE/SER	508,3898		0,508,1695	279	268	272		3830	0.4	0	7	dbSNP_131	272	744,7856		0,744,3556	yes	missense	MUC17	NM_001040105.1	142	0,1252,5251	TT,TG,GG		8.6512,11.5297,9.6263	possibly-damaging	1277/4494	100678527	1252,11754	2203	4300	6503	SO:0001583	missense	140453	exon3			AAGGAAGTACTCT	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.3830G>T	7.37:g.100678527G>T	ENSP00000302716:p.Ser1277Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	153	36	0.235294	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	209	0.09569597069597069	65	0.13211382113821138	35	0.09668508287292818	26	0.045454545454545456	83	0.10949868073878628	g	0.856	-0.736924	0.03111	0.115297	0.086512	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.373	0.373	0.16178	.	.	.	.	.	T	0.00039	0.0001	L	0.29908	0.895	0.09310	N	1	P	0.47604	0.898	B	0.36885	0.235	T	0.55224	-0.8174	8	0.42905	T	0.14	.	.	.	.	.	1277	Q685J3	MUC17_HUMAN	I	1277	ENSP00000302716:S1277I	ENSP00000302716:S1277I	S	+	2	0	MUC17	100465247	0.000000	0.05858	0.010000	0.14722	0.017000	0.09413	-1.635000	0.02018	0.472000	0.27344	0.134000	0.15878	AGT	G|0.918;T|0.082	0.082	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678527	G	T	100678527	3	4	22	1	0	0	0	0	1	0	0	0	9974	1029	36	4	3840	4	MUC17	7	100678527	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44	100678527	58460136	4356	9464			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678560	100678560	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtatacctgtcagcaccaCgctggtgaccagtcctgagg					rs77199586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678560C>A	ENST00000306151.4	+	3	3927	c.3863C>A	c.(3862-3864)aCg>aAg	p.T1288K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	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)					GTCAGCACCACGCTGGTGACC	0.473																																					p.T1288K		Atlas-SNP	.											MUC17,NS,carcinoma,-1,2	MUC17	804	2	0			c.C3863A						PASS	.	C	LYS/THR	768,3638		0,768,1435	272	261	265		3863	-0.9	0	7	dbSNP_131	265	553,8047		0,553,3747	no	missense	MUC17	NM_001040105.1	78	0,1321,5182	AA,AC,CC		6.4302,17.4308,10.1569	possibly-damaging	1288/4494	100678560	1321,11685	2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCACGCTGGT	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.3863C>A	7.37:g.100678560C>A	ENSP00000302716:p.Thr1288Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	142	30	0.211268	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.376343	0.01214	0.174308	0.064302	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.471	-0.942	0.10398	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.09310	N	1	P	0.47302	0.893	B	0.35727	0.209	T	0.40683	-0.9550	8	0.25106	T	0.35	.	.	.	.	.	1288	Q685J3	MUC17_HUMAN	K	1288	ENSP00000302716:T1288K	ENSP00000302716:T1288K	T	+	2	0	MUC17	100465280	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.039000	0.13884	-1.561000	0.01684	-2.053000	0.00404	ACG	C|0.936;A|0.064	0.064	strong		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678560	C	A	100678560	3	1	22	1	0	0	0	0	1	0	0	0	9974	536	19	4	3873	4	MUC17	7	100678560	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33	100678560	58460103	4357	9465	194	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678568	100678568	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcagcaccacgctggtgAccagtcctgaggctagcacc					rs75492258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678568A>T	ENST00000306151.4	+	3	3935	c.3871A>T	c.(3871-3873)Acc>Tcc	p.T1291S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1291	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)					CACGCTGGTGACCAGTCCTGA	0.478																																					p.T1291S		Atlas-SNP	.											MUC17,adrenal_gland,adrenal_cortical_adenoma,0,1	MUC17	804	1	0			c.A3871T						PASS	.	G	SER/THR	962,3444		0,962,1241	269	257	261		3871	-0.9	0	7	dbSNP_131	261	807,7793		0,807,3493	no	missense	MUC17	NM_001040105.1	58	0,1769,4734	TT,TA,AA		9.3837,21.8339,13.6014	benign	1291/4494	100678568	1769,11237	2203	4300	6503	SO:0001583	missense	140453	exon3			CTGGTGACCAGTC	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.3871A>T	7.37:g.100678568A>T	ENSP00000302716:p.Thr1291Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	145	31	0.213793	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364480	0.01235	0.218339	0.093837	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.471	-0.942	0.10398	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44314	-0.9336	8	0.14656	T	0.56	.	.	.	.	.	1291	Q685J3	MUC17_HUMAN	S	1291	ENSP00000302716:T1291S	ENSP00000302716:T1291S	T	+	1	0	MUC17	100465288	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.016000	0.01446	-3.635000	0.00129	-3.626000	0.00027	ACC	A|0.934;T|0.066	0.066	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678568	A	T	100678568	3	4	22	1	0	0	0	0	1	0	0	0	9974	275	10	5	3881	5	MUC17	7	100678568	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	100678568	58460095	4358	9466	194	2	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678610	100678610	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttaacaactcctgttgacActaaaggtcctgtggtcact					rs78010183	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678610A>T	ENST00000306151.4	+	3	3977	c.3913A>T	c.(3913-3915)Act>Tct	p.T1305S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1305	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)					TCCTGTTGACACTAAAGGTCC	0.458																																					p.T1305S		Atlas-SNP	.											.	MUC17	804	.	0			c.A3913T						PASS	.						240	230	233					7																	100678610		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTGACACTAAAG	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.3913A>T	7.37:g.100678610A>T	ENSP00000302716:p.Thr1305Ser	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	126	21	0.166667	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.413760	0.01145	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.471	-0.942	0.10398	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49670	-0.8915	8	0.18710	T	0.47	.	.	.	.	.	1305	Q685J3	MUC17_HUMAN	S	1305	ENSP00000302716:T1305S	ENSP00000302716:T1305S	T	+	1	0	MUC17	100465330	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.508000	0.06344	-3.256000	0.00203	-4.074000	0.00012	ACT	A|0.943;T|0.057	0.057	strong		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678610	A	T	100678610	3	4	22	1	0	0	0	0	1	0	0	0	9974	159	6	5	3923	5	MUC17	7	100678610	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42	100678610	58460053	4359	9467	195	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678616	100678616	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactcctgttgacactaaaGgtcctgtggtcacttctaat					rs113959201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678616G>A	ENST00000306151.4	+	3	3983	c.3919G>A	c.(3919-3921)Ggt>Agt	p.G1307S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1307	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)					TGACACTAAAGGTCCTGTGGT	0.453																																					p.G1307S		Atlas-SNP	.											.	MUC17	804	.	0			c.G3919A						PASS	.						238	228	231					7																	100678616		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTAAAGGTCCTG	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.3919G>A	7.37:g.100678616G>A	ENSP00000302716:p.Gly1307Ser	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	134	19	0.141791	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.077	-0.411605	0.04799	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.471	-0.942	0.10398	.	.	.	.	.	T	0.01029	0.0034	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	8	0.06757	T	0.87	.	.	.	.	.	1307	Q685J3	MUC17_HUMAN	S	1307	ENSP00000302716:G1307S	ENSP00000302716:G1307S	G	+	1	0	MUC17	100465336	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	-2.345000	0.00621	-1.616000	0.00795	GGT	G|0.941;A|0.059	0.059	strong		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678616	G	A	100678616	3	1	22	1	0	0	0	0	1	0	0	0	9974	1000	35	2	3929	2	MUC17	7	100678616	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	100678616	58460047	4360	9468	195	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678622	100678622	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttgacactaaaggtcctGtggtcacttctaatgaagtc					rs77299546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678622G>A	ENST00000306151.4	+	3	3989	c.3925G>A	c.(3925-3927)Gtg>Atg	p.V1309M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1309	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)					TAAAGGTCCTGTGGTCACTTC	0.448																																					p.V1309M		Atlas-SNP	.											.	MUC17	804	.	0			c.G3925A						PASS	.						236	226	229					7																	100678622		2203	4300	6503	SO:0001583	missense	140453	exon3			GGTCCTGTGGTCA	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.3925G>A	7.37:g.100678622G>A	ENSP00000302716:p.Val1309Met	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	138	22	0.15942	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.174	-1.068527	0.01934	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.471	-0.621	0.11564	.	.	.	.	.	T	0.04272	0.0118	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	P	0.55667	0.781	T	0.44143	-0.9347	8	0.33940	T	0.23	.	.	.	.	.	1309	Q685J3	MUC17_HUMAN	M	1309	ENSP00000302716:V1309M	ENSP00000302716:V1309M	V	+	1	0	MUC17	100465342	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.596000	0.05720	-0.241000	0.09681	-1.379000	0.01178	GTG	G|0.936;A|0.064	0.064	strong		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678622	G	A	100678622	3	1	22	1	0	0	0	0	1	0	0	0	9974	1377	48	2	3935	2	MUC17	7	100678622	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	100678622	58460041	4361	9469	195	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678693	100678693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatgccaacctcaacttaTagtgaaggaagaactccttt	7	10	1	2	rs78176991	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678693T>C	ENST00000306151.4	+	3	4060	c.3996T>C	c.(3994-3996)taT>taC	p.Y1332Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1332	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)					CCTCAACTTATAGTGAAGGAA	0.448																																					p.Y1332Y		Atlas-SNP	.											.	MUC17	804	.	0			c.T3996C						PASS	.						241	232	235					7																	100678693		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACTTATAGTGAA	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.3996T>C	7.37:g.100678693T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	144	16	0.111111	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.994;C|0.006	0.006	strong		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678693	T	C	100678693	2	2	22	1	0	0	0	0	0	0	0	1	9974	1413	49	2		2	MUC17	7	100678693	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	71	100678693	58459970	4362	9470			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678740	100678740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatacctgtcaacaccacacTggtggccagttctgcaatca	7	13	3	0	rs4269454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678740T>C	ENST00000306151.4	+	3	4107	c.4043T>C	c.(4042-4044)cTg>cCg	p.L1348P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1348	59 X approximate tandem repeats.|Ser-rich.		L -> P (in dbSNP:rs4269454). {ECO:0000269|PubMed:9299468}.		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)					AACACCACACTGGTGGCCAGT	0.463													N|||	1193	0.238219	0.351	0.1023	5008	,	,		25539	0.252		0.1213	False		,,,				2504	0.2883				p.L1348P		Atlas-SNP	.											.	MUC17	804	.	0			c.T4043C						PASS	.	C	PRO/LEU	1348,3058	693.0+/-405.6	209,930,1064	228	227	227		4043	-1.7	0	7	dbSNP_111	227	999,7601	773.3+/-407.7	57,885,3358	no	missense	MUC17	NM_001040105.1	98	266,1815,4422	CC,CT,TT		11.6163,30.5946,18.0455	benign	1348/4494	100678740	2347,10659	2203	4300	6503	SO:0001583	missense	140453	exon3			CCACACTGGTGGC	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.4043T>C	7.37:g.100678740T>C	ENSP00000302716:p.Leu1348Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	144	70	0.486111	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	430	0.19688644688644688	159	0.3231707317073171	42	0.11602209944751381	140	0.24475524475524477	89	0.11741424802110818	c	0.013	-1.645144	0.00792	0.305946	0.116163	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.861	-1.72	0.08107	.	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	8	0.27785	T	0.31	.	3.1089	0.06351	0.1991:0.2846:0.0:0.5164	rs4269454;rs10374373;rs52835910;rs4269454	1348	Q685J3	MUC17_HUMAN	P	1348	ENSP00000302716:L1348P	ENSP00000302716:L1348P	L	+	2	0	MUC17	100465460	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.110000	0.01334	-3.604000	0.00133	-3.178000	0.00056	CTG	T|0.821;C|0.179	0.179	strong		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678740	T	C	100678740	3	2	22	1	0	0	0	0	1	0	0	0	9974	1580	55	3	4053	3	MUC17	7	100678740	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47	100678740	58459923	4363	9471			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678820	100678820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccacttctactgaagccTgttcatctcctacaacttct	4	14	4	2	rs386716198|rs4367469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678820T>C	ENST00000306151.4	+	3	4187	c.4123T>C	c.(4123-4125)Tgt>Cgt	p.C1375R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1375	59 X approximate tandem repeats.|Ser-rich.		C -> R (in dbSNP:rs4367469). {ECO:0000269|PubMed:9299468}.		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)					TACTGAAGCCTGTTCATCTCC	0.483																																					p.C1375R		Atlas-SNP	.											.	MUC17	804	.	0			c.T4123C						PASS	.	C	ARG/CYS	1301,3105		206,889,1108	232	241	238		4123	-0.5	0	7	dbSNP_111	238	999,7601		57,885,3358	no	missense	MUC17	NM_001040105.1	180	263,1774,4466	CC,CT,TT		11.6163,29.5279,17.6841	benign	1375/4494	100678820	2300,10706	2203	4300	6503	SO:0001583	missense	140453	exon3			GAAGCCTGTTCAT	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.4123T>C	7.37:g.100678820T>C	ENSP00000302716:p.Cys1375Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	125	62	0.496	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	350	0.16025641025641027	113	0.22967479674796748	35	0.09668508287292818	125	0.21853146853146854	77	0.10158311345646438	N	0.035	-1.311408	0.01342	0.295279	0.116163	ENSG00000169876	ENST00000306151	T	0.02974	4.09	0.838	-0.487	0.12060	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43343	-0.9397	8	0.17832	T	0.49	.	2.045	0.03558	0.4021:0.3014:0.0:0.2965	rs4367469;rs10374415	1375	Q685J3	MUC17_HUMAN	R	1375	ENSP00000302716:C1375R	ENSP00000302716:C1375R	C	+	1	0	MUC17	100465540	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.262000	0.08682	-0.774000	0.04590	-4.225000	0.00009	TGT	T|0.834;C|0.166	0.166	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678820	T	C	100678820	3	2	22	1	0	0	0	0	1	0	0	0	9974	1580	55	3	4133	3	MUC17	7	100678820	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80	100678820	58459843	4364	9472			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678932	100678932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgccggtagtcagttctgAggctagcaccctttcagcaa	10	13	3	1	rs114941002		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678932A>G	ENST00000306151.4	+	3	4299	c.4235A>G	c.(4234-4236)gAg>gGg	p.E1412G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1412	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)					GTCAGTTCTGAGGCTAGCACC	0.502																																					p.E1412G		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.A4235G						scavenged	.						272	277	275					7																	100678932		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTCTGAGGCTAG	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.4235A>G	7.37:g.100678932A>G	ENSP00000302716:p.Glu1412Gly	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	147	10	0.0680272	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449416	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.838	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B	0.27765	0.188	B	0.19946	0.027	T	0.48502	-0.9030	9	0.23891	T	0.37	.	3.0434	0.06146	0.6909:0.0:0.3091:0.0	.	1412	Q685J3	MUC17_HUMAN	G	1412	ENSP00000302716:E1412G	ENSP00000302716:E1412G	E	+	2	0	MUC17	100465652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.362000	0.07602	-0.153000	0.11137	0.113000	0.15668	GAG	.	.	weak		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678932	A	G	100678932	3	3	22	1	0	0	0	0	1	0	0	0	9974	304	11	3	4245	3	MUC17	7	100678932	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	112	100678932	58459731	4365	9473			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	17	3	1	rs71286276		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	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)	p.A1431T(1)		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)					GACCACTTCTGCTGAAGCCAC	0.488																																					p.A1431T		Atlas-SNP	.											MUC17,NS,carcinoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	kidney(1)	c.G4291A						scavenged	.						207	222	217					7																	100678988		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTTCTGCTGAAG	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.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	135	5	0.037037	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT	.	.	none		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678988	G	A	100678988	3	1	22	1	0	0	0	0	1	0	0	0	9974	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56	100678988	58459675	4366	9474			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679136	100679136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccctttcaacaactcctgTtgactctaacagtcctgtgg	6	14	2	1	rs7780935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679136T>C	ENST00000306151.4	+	3	4503	c.4439T>C	c.(4438-4440)gTt>gCt	p.V1480A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1480	59 X approximate tandem repeats.|Ser-rich.		V -> A (in dbSNP:rs7780935). {ECO:0000269|PubMed:9299468}.		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)					ACAACTCCTGTTGACTCTAAC	0.483													T|||	657	0.13119	0.2322	0.085	5008	,	,		25204	0.0665		0.1173	False		,,,				2504	0.1084				p.V1480A		Atlas-SNP	.											.	MUC17	804	.	0			c.T4439C						PASS	.	T	ALA/VAL	909,3497	350.0+/-310.6	93,723,1387	157	165	162		4439	-2.2	0	7	dbSNP_116	162	987,7609	213.4+/-253.3	57,873,3368	no	missense	MUC17	NM_001040105.1	64	150,1596,4755	CC,CT,TT		11.4821,20.631,14.5824	benign	1480/4494	100679136	1896,11106	2203	4298	6501	SO:0001583	missense	140453	exon3			CTCCTGTTGACTC	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.4439T>C	7.37:g.100679136T>C	ENSP00000302716:p.Val1480Ala	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	237	0.10851648351648352	87	0.17682926829268292	34	0.09392265193370165	30	0.05244755244755245	86	0.11345646437994723	t	1.397	-0.579307	0.03854	0.20631	0.114821	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.09	-2.18	0.07037	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.14438	0.01	B	0.08055	0.003	T	0.41928	-0.9481	8	0.07644	T	0.81	.	2.0054	0.03476	0.2509:0.0:0.3084:0.4408	rs7780935	1480	Q685J3	MUC17_HUMAN	A	1480	ENSP00000302716:V1480A	ENSP00000302716:V1480A	V	+	2	0	MUC17	100465856	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.010000	0.03656	-1.218000	0.02601	0.113000	0.15668	GTT	T|0.875;C|0.125	0.125	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100679136	T	C	100679136	3	2	22	1	0	0	0	0	1	0	0	0	9974	1725	60	2	4449	2	MUC17	7	100679136	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	148	100679136	58459527	4367	9475			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679254	100679254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcactgcattaacaagtatAcctgtcagcaccacaacagt	6	12	1	0	rs199808245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679254A>G	ENST00000306151.4	+	3	4621	c.4557A>G	c.(4555-4557)atA>atG	p.I1519M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1519	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)					TAACAAGTATACCTGTCAGCA	0.478																																					p.I1519M		Atlas-SNP	.											.	MUC17	804	.	0			c.A4557G						PASS	.						232	210	217					7																	100679254		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGTATACCTGTC	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.4557A>G	7.37:g.100679254A>G	ENSP00000302716:p.Ile1519Met	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	155	26	0.167742	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.915578	0.00503	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.364	-0.728	0.11162	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49173	-0.8967	8	0.46703	T	0.11	.	.	.	.	.	1519	Q685J3	MUC17_HUMAN	M	1519	ENSP00000302716:I1519M	ENSP00000302716:I1519M	I	+	3	3	MUC17	100465974	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.763000	0.00784	-2.226000	0.00723	-1.550000	0.00899	ATA	A|0.955;G|0.045	0.045	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679254	A	G	100679254	3	3	22	1	0	0	0	0	1	0	0	0	9974	381	14	2	4567	2	MUC17	7	100679254	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	118	100679254	58459409	4368	9476			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679296	100679296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagttctgaaatcaacagCctttcaacaactcctgctgt	6	13	3	1	rs73168392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679296C>T	ENST00000306151.4	+	3	4663	c.4599C>T	c.(4597-4599)agC>agT	p.S1533S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1533	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)					AAATCAACAGCCTTTCAACAA	0.478																																					p.S1533S		Atlas-SNP	.											.	MUC17	804	.	0			c.C4599T						PASS	.						264	230	241					7																	100679296		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CAACAGCCTTTCA	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.4599C>T	7.37:g.100679296C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	178	44	0.247191	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.867;T|0.133	0.133	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679296	C	T	100679296	2	4	22	1	0	0	0	0	0	0	0	1	9974	738	26	2		2	MUC17	7	100679296	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42	100679296	58459367	4369	9477			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679316	100679316	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttcaacaactcctgctgTcaccagcacacctgtgacca	5	17	2	1	rs199509433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679316T>A	ENST00000306151.4	+	3	4683	c.4619T>A	c.(4618-4620)gTc>gAc	p.V1540D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1540	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)					ACTCCTGCTGTCACCAGCACA	0.473																																					p.V1540D		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,-1,1	MUC17	804	1	0			c.T4619A						PASS	.	A	ASP/VAL	60,4346	815.8+/-416.2	0,60,2143	253	227	236		4619	-1.8	0	7	dbSNP_134	236	19,8581	817.2+/-406.9	0,19,4281	no	missense	MUC17	NM_001040105.1	152	0,79,6424	AA,AT,TT		0.2209,1.3618,0.6074	benign	1540/4494	100679316	79,12927	2203	4300	6503	SO:0001583	missense	140453	exon3			CTGCTGTCACCAG	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.4619T>A	7.37:g.100679316T>A	ENSP00000302716:p.Val1540Asp	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	187	42	0.224599	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.210	-0.629938	0.03610	0.013618	0.002209	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.922	-1.84	0.07809	.	.	.	.	.	T	0.00724	0.0024	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41305	-0.9516	9	0.10902	T	0.67	.	2.1043	0.03687	0.3027:0.0:0.2101:0.4872	.	1540	Q685J3	MUC17_HUMAN	D	1540	ENSP00000302716:V1540D	ENSP00000302716:V1540D	V	+	2	0	MUC17	100466036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.547000	0.00114	-2.533000	0.00490	-2.239000	0.00288	GTC	T|0.906;A|0.094	0.094	strong		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100679316	T	A	100679316	3	1	22	1	0	0	0	0	1	0	0	0	9974	1667	58	5	4629	5	MUC17	7	100679316	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20	100679316	58459347	4370	9478			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679390	100679390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacggtaccagcatgcaaAcctcaacttatagtgaagga	9	10	1	2	rs150982179		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679390A>G	ENST00000306151.4	+	3	4757	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1565	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)					CAGCATGCAAACCTCAACTTA	0.488																																					p.T1565A		Atlas-SNP	.											MUC17,NS,carcinoma,-2,1	MUC17	804	1	0			c.A4693G						scavenged	.						265	248	254					7																	100679390		2203	4300	6503	SO:0001583	missense	140453	exon3			ATGCAAACCTCAA	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.4693A>G	7.37:g.100679390A>G	ENSP00000302716:p.Thr1565Ala	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	189	13	0.0687831	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.177	-0.639202	0.03557	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.364	0.364	0.16124	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47586	-0.9106	8	0.06236	T	0.91	.	.	.	.	.	1565	Q685J3	MUC17_HUMAN	A	1565	ENSP00000302716:T1565A	ENSP00000302716:T1565A	T	+	1	0	MUC17	100466110	0.012000	0.17670	0.001000	0.08648	0.002000	0.02628	1.128000	0.31369	0.391000	0.25143	0.102000	0.15555	ACC	.	.	weak		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679390	A	G	100679390	3	3	22	1	0	0	0	0	1	0	0	0	9974	43	2	2	4703	2	MUC17	7	100679390	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74	100679390	58459273	4371	9479			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679752	100679752	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatgccaacctcaacttaTactgaaggaagaactccttt					rs4992072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679752T>C	ENST00000306151.4	+	3	5119	c.5055T>C	c.(5053-5055)taT>taC	p.Y1685Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1685	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)					CCTCAACTTATACTGAAGGAA	0.468																																					p.Y1685Y		Atlas-SNP	.											.	MUC17	804	.	0			c.T5055C						PASS	.						192	206	201					7																	100679752		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACTTATACTGAA	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.5055T>C	7.37:g.100679752T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	38	0.319328	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.980;C|0.020	0.020	strong		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100679752	T	C	100679752	2	2	22	1	0	0	0	0	0	0	0	1	9974	1413	49	2		2	MUC17	7	100679752	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	362	100679752	58458911	4372	9480	196	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679754	100679754	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccaacctcaacttataCtgaaggaagaactcctttaa					rs4992073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679754C>G	ENST00000306151.4	+	3	5121	c.5057C>G	c.(5056-5058)aCt>aGt	p.T1686S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1686	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)					TCAACTTATACTGAAGGAAGA	0.468																																					p.T1686S		Atlas-SNP	.											.	MUC17	804	.	0			c.C5057G						PASS	.						191	206	201					7																	100679754		2203	4300	6503	SO:0001583	missense	140453	exon3			CTTATACTGAAGG	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.5057C>G	7.37:g.100679754C>G	ENSP00000302716:p.Thr1686Ser	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	39	0.327731	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.307	-0.970357	0.02232	.	.	ENSG00000169876	ENST00000306151	T	0.01963	4.53	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00845	0.0028	N	0.02539	-0.55	0.09310	N	1	B	0.20261	0.043	B	0.08055	0.003	T	0.46062	-0.9218	9	0.05436	T	0.98	.	6.7353	0.23405	0.0:0.4292:0.5708:0.0	rs4992073	1686	Q685J3	MUC17_HUMAN	S	1686	ENSP00000302716:T1686S	ENSP00000302716:T1686S	T	+	2	0	MUC17	100466474	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.458000	0.06737	-0.486000	0.06744	-3.678000	0.00024	ACT	C|0.973;G|0.027	0.027	strong		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679754	C	G	100679754	3	3	22	1	0	0	0	0	1	0	0	0	9974	565	20	4	5067	4	MUC17	7	100679754	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	100679754	58458909	4373	9481	196	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679760	100679760	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctcaacttatactgaagGaagaactcctttaacaagta					rs73168394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679760G>A	ENST00000306151.4	+	3	5127	c.5063G>A	c.(5062-5064)gGa>gAa	p.G1688E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1688	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)					TATACTGAAGGAAGAACTCCT	0.478																																					p.G1688E		Atlas-SNP	.											MUC17,caecum,carcinoma,0,2	MUC17	804	2	0			c.G5063A						PASS	.						187	202	197					7																	100679760		2203	4300	6503	SO:0001583	missense	140453	exon3			CTGAAGGAAGAAC	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.5063G>A	7.37:g.100679760G>A	ENSP00000302716:p.Gly1688Glu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	122	21	0.172131	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274900	0.01410	.	.	ENSG00000169876	ENST00000306151	T	0.06068	3.35	0.579	-1.16	0.09678	.	.	.	.	.	T	0.02649	0.0080	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46062	-0.9218	8	0.02654	T	1	.	.	.	.	.	1688	Q685J3	MUC17_HUMAN	E	1688	ENSP00000302716:G1688E	ENSP00000302716:G1688E	G	+	2	0	MUC17	100466480	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.758000	0.00374	-0.992000	0.03472	-1.407000	0.01130	GGA	G|0.989;A|0.011	0.011	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100679760	G	A	100679760	3	1	22	1	0	0	0	0	1	0	0	0	9974	1174	41	2	5073	2	MUC17	7	100679760	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	100679760	58458903	4374	9482	196	3	15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100679809	100679809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacaacaccggtggccagCtctgcaatcagcaccctttc	8	15	2	1	rs71525815|rs4992074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100679809C>T	ENST00000306151.4	+	3	5176	c.5112C>T	c.(5110-5112)agC>agT	p.S1704S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1704	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)					CGGTGGCCAGCTCTGCAATCA	0.483													T|||	1178	0.235224	0.3396	0.1023	5008	,	,		24513	0.253		0.1213	False		,,,				2504	0.2873				p.S1704S		Atlas-SNP	.											.	MUC17	804	.	0			c.C5112T						PASS	.	T		1324,3082	695.5+/-405.9	207,910,1086	188	203	198		5112	-1.2	0	7	dbSNP_113	198	999,7601	773.3+/-407.7	57,885,3358	no	coding-synonymous	MUC17	NM_001040105.1		264,1795,4444	TT,TC,CC		11.6163,30.0499,17.861		1704/4494	100679809	2323,10683	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			GGCCAGCTCTGCA	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.5112C>T	7.37:g.100679809C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	46	0.4	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.823;T|0.177	0.177	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679809	C	T	100679809	2	4	22	1	0	0	0	0	0	0	0	1	9974	796	28	2		2	MUC17	7	100679809	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49	100679809	58458854	4375	9483			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100680120	100680120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcttagtgaaggaatgaCtccattaacaagcacacctg	8	10	1	2	rs147991653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100680120C>A	ENST00000306151.4	+	3	5487	c.5423C>A	c.(5422-5424)aCt>aAt	p.T1808N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1808	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)	p.T1808N(1)		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)					GAAGGAATGACTCCATTAACA	0.512													-|||	4	0.000798722	0.0008	0.0	5008	,	,		25905	0.003		0.0	False		,,,				2504	0.0				p.T1808N		Atlas-SNP	.											MUC17,extremity,malignant_melanoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	skin(1)	c.C5423A						scavenged	.						246	249	248					7																	100680120		2203	4300	6503	SO:0001583	missense	140453	exon3			GAATGACTCCATT	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.5423C>A	7.37:g.100680120C>A	ENSP00000302716:p.Thr1808Asn	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	205	10	0.0487805	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	76	0.0347985347985348	28	0.056910569105691054	21	0.058011049723756904	12	0.02097902097902098	15	0.01978891820580475	c	0.142	-1.100945	0.01843	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.471	-0.615	0.11587	.	.	.	.	.	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	B	0.40677	0.337	T	0.51988	-0.8635	8	0.32370	T	0.25	.	.	.	.	.	1808	Q685J3	MUC17_HUMAN	N	1808	ENSP00000302716:T1808N	ENSP00000302716:T1808N	T	+	2	0	MUC17	100466840	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.305000	0.19254	-0.243000	0.09653	-1.404000	0.01136	ACT	C|0.975;A|0.025	0.025	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680120	C	A	100680120	3	1	22	1	0	0	0	0	1	0	0	0	9974	565	20	4	5433	4	MUC17	7	100680120	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	311	100680120	58458543	4376	9484			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100680336	100680336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcagcaccacaacagtggCcagttctgaaaccaacaccc	7	15	2	1	rs74687161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100680336C>T	ENST00000306151.4	+	3	5703	c.5639C>T	c.(5638-5640)gCc>gTc	p.A1880V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1880	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)					ACAACAGTGGCCAGTTCTGAA	0.498													-|||	251	0.0501198	0.1823	0.0144	5008	,	,		24216	0.0		0.0	False		,,,				2504	0.0				p.A1880V		Atlas-SNP	.											.	MUC17	804	.	0			c.C5639T						PASS	.	C	VAL/ALA	665,3741		90,485,1628	240	251	247		5639	-0.3	0	7	dbSNP_131	247	6,8594		0,6,4294	no	missense	MUC17	NM_001040105.1	64	90,491,5922	TT,TC,CC		0.0698,15.0931,5.1592	benign	1880/4494	100680336	671,12335	2203	4300	6503	SO:0001583	missense	140453	exon3			CAGTGGCCAGTTC	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.5639C>T	7.37:g.100680336C>T	ENSP00000302716:p.Ala1880Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	120	59	0.491667	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	79	0.036172161172161175	77	0.1565040650406504	2	0.0055248618784530384	0	0.0	0	0.0	c	3.374	-0.127886	0.06753	0.150931	6.98E-4	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.824	-0.353	0.12594	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.16802	0.019	B	0.08055	0.003	T	0.45977	-0.9224	8	0.18276	T	0.48	.	5.508	0.16864	0.0:0.7655:0.0:0.2345	.	1880	Q685J3	MUC17_HUMAN	V	1880	ENSP00000302716:A1880V	ENSP00000302716:A1880V	A	+	2	0	MUC17	100467056	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.179000	0.16840	-0.086000	0.12550	0.134000	0.15878	GCC	C|0.958;T|0.042	0.042	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100680336	C	T	100680336	3	4	22	1	0	0	0	0	1	0	0	0	9974	739	26	2	5649	2	MUC17	7	100680336	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	216	100680336	58458327	4377	9485			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100680370	100680370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaccctttcaacaactccCgctgtcaccagcacacctgt	4	18	2	0	rs201762013|rs10257974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100680370C>T	ENST00000306151.4	+	3	5737	c.5673C>T	c.(5671-5673)ccC>ccT	p.P1891P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1891	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)					CAACAACTCCCGCTGTCACCA	0.502													-|||	800	0.159744	0.2814	0.0879	5008	,	,		24145	0.0972		0.1193	False		,,,				2504	0.1524				p.P1891P		Atlas-SNP	.											.	MUC17	804	.	0			c.C5673T						PASS	.	T		1063,3333		193,677,1328	237	251	246		5673	-0.2	0	7	dbSNP_119	246	987,7613		56,875,3369	no	coding-synonymous	MUC17	NM_001040105.1		249,1552,4697	TT,TC,CC		11.4767,24.1811,15.7741		1891/4494	100680370	2050,10946	2198	4300	6498	SO:0001819	synonymous_variant	140453	exon3			AACTCCCGCTGTC	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.5673C>T	7.37:g.100680370C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	133	68	0.511278	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.861;T|0.139	0.139	strong		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100680370	C	T	100680370	2	4	22	1	0	0	0	0	0	0	0	1	9974	639	23	1		1	MUC17	7	100680370	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34	100680370	58458293	4378	9486			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100680438	100680438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctacaactgctgacggtaGcagcatgccaacctcaactc	7	15	1	1	rs112926140		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100680438G>C	ENST00000306151.4	+	3	5805	c.5741G>C	c.(5740-5742)aGc>aCc	p.S1914T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	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)					GCTGACGGTAGCAGCATGCCA	0.493																																					p.S1914T		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+1,1	MUC17	804	1	0			c.G5741C						scavenged	.						249	250	250					7																	100680438		2203	4300	6503	SO:0001583	missense	140453	exon3			ACGGTAGCAGCAT	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.5741G>C	7.37:g.100680438G>C	ENSP00000302716:p.Ser1914Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	136	5	0.0367647	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.074	-1.195664	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	1.2251	0.01932	0.1506:0.3181:0.2997:0.2316	.	1914	Q685J3	MUC17_HUMAN	T	1914	ENSP00000302716:S1914T	ENSP00000302716:S1914T	S	+	2	0	MUC17	100467158	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.876000	0.04201	-3.962000	0.00087	-1.848000	0.00571	AGC	A|0.001;G|0.999	.	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680438	G	C	100680438	3	2	22	1	0	0	0	0	1	0	0	0	9974	971	34	4	5751	4	MUC17	7	100680438	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68	100680438	58458225	4379	9487			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100680939	100680939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaccaattctactgaagCcagttcatctgcaaccgctg	9	12	3	2	rs36120435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100680939C>A	ENST00000306151.4	+	3	6306	c.6242C>A	c.(6241-6243)gCc>gAc	p.A2081D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2081	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)					TCTACTGAAGCCAGTTCATCT	0.498													C|||	612	0.122204	0.1997	0.0821	5008	,	,		26174	0.0665		0.1173	False		,,,				2504	0.1084				p.A2081D		Atlas-SNP	.											.	MUC17	804	.	0			c.C6242A						PASS	.	C	ASP/ALA	775,3631	314.9+/-293.9	64,647,1492	172	170	171		6242	-1.2	0	7	dbSNP_126	171	983,7617	213.1+/-253.2	56,871,3373	no	missense	MUC17	NM_001040105.1	126	120,1518,4865	AA,AC,CC		11.4302,17.5897,13.5168	benign	2081/4494	100680939	1758,11248	2203	4300	6503	SO:0001583	missense	140453	exon3			CTGAAGCCAGTTC	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.6242C>A	7.37:g.100680939C>A	ENSP00000302716:p.Ala2081Asp	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	110	58	0.527273	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	220	0.10073260073260074	70	0.14227642276422764	34	0.09392265193370165	29	0.050699300699300696	87	0.11477572559366754	c	3.462	-0.109758	0.06924	0.175897	0.114302	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.589	-1.18	0.09617	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.49483	P	2.0900000000001473E-4	B	0.14438	0.01	B	0.08055	0.003	T	0.46735	-0.9170	8	0.21540	T	0.41	.	5.2138	0.15332	0.3336:0.6663:0.0:0.0	.	2081	Q685J3	MUC17_HUMAN	D	2081	ENSP00000302716:A2081D	ENSP00000302716:A2081D	A	+	2	0	MUC17	100467659	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.240000	0.08952	-0.374000	0.07967	0.134000	0.15878	GCC	C|0.880;A|0.120	0.120	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680939	C	A	100680939	3	1	22	1	0	0	0	0	1	0	0	0	9974	739	26	4	6252	4	MUC17	7	100680939	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	501	100680939	58457724	4380	9488			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100681303	100681303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaagcccgttcatctccTacaacttctgaaggtaccag	7	13	3	2	rs143516283		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100681303T>C	ENST00000306151.4	+	3	6670	c.6606T>C	c.(6604-6606)ccT>ccC	p.P2202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2202	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)					GTTCATCTCCTACAACTTCTG	0.507																																					p.P2202P		Atlas-SNP	.											MUC17,rectum,carcinoma,0,1	MUC17	804	1	0			c.T6606C						scavenged	.						311	311	311					7																	100681303		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			ATCTCCTACAACT	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.6606T>C	7.37:g.100681303T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	168	13	0.077381	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.	.	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681303	T	C	100681303	2	2	22	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100681303	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	364	100681303	58457360	4381	9489			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100682275	100682275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacctgtcagcaccacgccAgtggccagtcctgaggctag	11	14	1	1	rs4386914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100682275A>G	ENST00000306151.4	+	3	7642	c.7578A>G	c.(7576-7578)ccA>ccG	p.P2526P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2526	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)					GCACCACGCCAGTGGCCAGTC	0.483													G|||	1194	0.238419	0.351	0.1023	5008	,	,		27860	0.253		0.1213	False		,,,				2504	0.2883				p.P2526P		Atlas-SNP	.											.	MUC17	804	.	0			c.A7578G						PASS	.	G		1346,3060	693.0+/-405.6	209,928,1066	245	265	258		7578	-0.7	0	7	dbSNP_111	258	991,7609	773.5+/-407.7	56,879,3365	no	coding-synonymous	MUC17	NM_001040105.1		265,1807,4431	GG,GA,AA		11.5233,30.5493,17.9686		2526/4494	100682275	2337,10669	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCAGTGGCC	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.7578A>G	7.37:g.100682275A>G		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	163	80	0.490798	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.835;G|0.165	0.165	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100682275	A	G	100682275	2	3	22	1	0	0	0	0	0	0	0	1	9974	175	7	3		3	MUC17	7	100682275	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	972	100682275	58456388	4382	9490			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100682831	100682831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaattctgaggctagcaccCtttcaacaactcctgttgac	6	14	2	2	rs34223735		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100682831C>G	ENST00000306151.4	+	3	8198	c.8134C>G	c.(8134-8136)Ctt>Gtt	p.L2712V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2712	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)					GGCTAGCACCCTTTCAACAAC	0.493																																					p.L2712V		Atlas-SNP	.											.	MUC17	804	.	0			c.C8134G						PASS	.						257	264	262					7																	100682831		2203	4300	6503	SO:0001583	missense	140453	exon3			AGCACCCTTTCAA	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.8134C>G	7.37:g.100682831C>G	ENSP00000302716:p.Leu2712Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	146	9	0.0616438	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446165	0.01089	.	.	ENSG00000169876	ENST00000306151	T	0.04049	3.72	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.02494	0.0076	N	0.17082	0.46	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.48875	-0.8996	9	0.14656	T	0.56	.	3.6497	0.08198	2.0E-4:0.5059:0.4937:2.0E-4	rs34223735	2712	Q685J3	MUC17_HUMAN	V	2712	ENSP00000302716:L2712V	ENSP00000302716:L2712V	L	+	1	0	MUC17	100469551	0.018000	0.18449	0.005000	0.12908	0.081000	0.17604	-0.783000	0.04638	0.132000	0.18615	0.134000	0.15878	CTT	.	.	weak		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100682831	C	G	100682831	3	3	22	1	0	0	0	0	1	0	0	0	9974	681	24	4	8144	4	MUC17	7	100682831	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	556	100682831	58455832	4383	9491			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100683067	100683067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttctactgaagccagttcCtctcctacaactgctgaagt	6	13	2	2	rs112360991		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100683067C>T	ENST00000306151.4	+	3	8434	c.8370C>T	c.(8368-8370)tcC>tcT	p.S2790S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2790	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)					AAGCCAGTTCCTCTCCTACAA	0.507																																					p.S2790S		Atlas-SNP	.											.	MUC17	804	.	0			c.C8370T						PASS	.						257	254	255					7																	100683067		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CAGTTCCTCTCCT	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.8370C>T	7.37:g.100683067C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	181	21	0.116022	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.500;T|0.500	0.500	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100683067	C	T	100683067	2	4	22	1	0	0	0	0	0	0	0	1	9974	668	24	2		2	MUC17	7	100683067	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	236	100683067	58455596	4384	9492			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100683156	100683156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtatgcctgtcaaccacaCgccagtggccagttctgagg	11	12	2	1	rs79046921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100683156C>T	ENST00000306151.4	+	3	8523	c.8459C>T	c.(8458-8460)aCg>aTg	p.T2820M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2820	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)					GTCAACCACACGCCAGTGGCC	0.493																																					p.T2820M		Atlas-SNP	.											MUC17,colon,carcinoma,-1,2	MUC17	804	2	0			c.C8459T						scavenged	.	C	MET/THR	620,3786	270.1+/-269.4	46,528,1629	241	247	245		8459	0.9	0	7	dbSNP_131	245	6,8594	3.0+/-9.4	0,6,4294	yes	missense	MUC17	NM_001040105.1	81	46,534,5923	TT,TC,CC		0.0698,14.0717,4.8132	probably-damaging	2820/4494	100683156	626,12380	2203	4300	6503	SO:0001583	missense	140453	exon3			ACCACACGCCAGT	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.8459C>T	7.37:g.100683156C>T	ENSP00000302716:p.Thr2820Met	Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	143	77	0.538462	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	77	0.035256410256410256	74	0.15040650406504066	3	0.008287292817679558	0	0.0	0	0.0	C	6.722	0.501948	0.12822	0.140717	6.98E-4	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.911	0.911	0.19343	.	.	.	.	.	T	0.00039	0.0001	N	0.20986	0.625	0.80722	P	0.0	D	0.76494	0.999	D	0.64877	0.93	T	0.53265	-0.8463	8	0.62326	D	0.03	.	7.81	0.29226	0.0:1.0:0.0:0.0	.	2820	Q685J3	MUC17_HUMAN	M	2820	ENSP00000302716:T2820M	ENSP00000302716:T2820M	T	+	2	0	MUC17	100469876	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.791000	0.26915	0.801000	0.34066	0.134000	0.15878	ACG	A|0.000;C|0.960;T|0.040	0.040	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100683156	C	T	100683156	3	4	22	1	0	0	0	0	1	0	0	0	9974	536	19	1	8469	1	MUC17	7	100683156	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89	100683156	58455507	4385	9493			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100684550	100684550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaagcactccattaacaAgtatgcctgtcagcaccaca	7	12	1	0	rs35090328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100684550A>G	ENST00000306151.4	+	3	9917	c.9853A>G	c.(9853-9855)Agt>Ggt	p.S3285G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3285	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)					TCCATTAACAAGTATGCCTGT	0.507													A|||	483	0.0964457	0.1188	0.0764	5008	,	,		28559	0.0615		0.1133	False		,,,				2504	0.0992				p.S3285G		Atlas-SNP	.											.	MUC17	804	.	0			c.A9853G						PASS	.	A	GLY/SER	470,3936		9,452,1742	342	338	339		9853	-2.2	0	7	dbSNP_126	339	950,7650		23,904,3373	no	missense	MUC17	NM_001040105.1	56	32,1356,5115	GG,GA,AA		11.0465,10.6673,10.918	possibly-damaging	3285/4494	100684550	1420,11586	2203	4300	6503	SO:0001583	missense	140453	exon3			TTAACAAGTATGC	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.9853A>G	7.37:g.100684550A>G	ENSP00000302716:p.Ser3285Gly	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	159	73	0.459119	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	180	0.08241758241758242	39	0.07926829268292683	31	0.0856353591160221	28	0.04895104895104895	82	0.10817941952506596	a	3.445	-0.113248	0.06881	0.106673	0.110465	ENSG00000169876	ENST00000306151	T	0.02579	4.24	1.46	-2.19	0.07015	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	P	0.37985	0.613	B	0.37047	0.24	T	0.43212	-0.9405	9	0.20519	T	0.43	.	2.3573	0.04299	0.342:0.0:0.4041:0.2539	rs35090328;rs58812832	3285	Q685J3	MUC17_HUMAN	G	3285	ENSP00000302716:S3285G	ENSP00000302716:S3285G	S	+	1	0	MUC17	100471270	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.627000	0.05521	-0.483000	0.06772	0.165000	0.16767	AGT	A|0.904;G|0.096	0.096	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100684550	A	G	100684550	3	3	22	1	0	0	0	0	1	0	0	0	9974	72	3	3	9863	3	MUC17	7	100684550	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1394	100684550	58454113	4386	9494			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100684573	100684573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcctgtcagcaccacaacGgtggccagttctgaaacgag	11	12	2	1	rs144023476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317				p.T3292T		Atlas-SNP	.											MUC17,NS,haematopoietic_neoplasm,0,1	MUC17	804	1	0			c.G9876A						scavenged	.	G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACAACGGTGGCC	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.9876G>A	7.37:g.100684573G>A		Somatic	141	2	0.0141844		WXS	Illumina HiSeq	Phase_I	158	13	0.0822785	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.984;A|0.016	0.016	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	22	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	100684573	58454090	4387	9495			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100684593	100684593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggccagttctgaaacgaGcaccctttcaacaactcctg	9	13	2	1	rs35988443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100684593G>A	ENST00000306151.4	+	3	9960	c.9896G>A	c.(9895-9897)aGc>aAc	p.S3299N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3299	59 X approximate tandem repeats.|Ser-rich.		S -> N (in dbSNP:rs35988443).		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)					TCTGAAACGAGCACCCTTTCA	0.512													G|||	563	0.11242	0.1634	0.0807	5008	,	,		26032	0.0665		0.1173	False		,,,				2504	0.1084				p.S3299N		Atlas-SNP	.											.	MUC17	804	.	0			c.G9896A						PASS	.	G	ASN/SER	640,3766	275.4+/-272.5	43,554,1606	307	314	312		9896	-1.5	0	7	dbSNP_126	312	987,7613	213.6+/-253.5	57,873,3370	no	missense	MUC17	NM_001040105.1	46	100,1427,4976	AA,AG,GG		11.4767,14.5256,12.5096	possibly-damaging	3299/4494	100684593	1627,11379	2203	4300	6503	SO:0001583	missense	140453	exon3			AAACGAGCACCCT	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.9896G>A	7.37:g.100684593G>A	ENSP00000302716:p.Ser3299Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	132	64	0.484848	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	213	0.09752747252747253	65	0.13211382113821138	32	0.08839779005524862	29	0.050699300699300696	87	0.11477572559366754	g	0.265	-0.996778	0.02145	0.145256	0.114767	ENSG00000169876	ENST00000306151	T	0.02121	4.44	0.754	-1.51	0.08664	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.13594	0.008	B	0.15870	0.014	T	0.46275	-0.9203	8	0.24483	T	0.36	.	3.8023	0.08763	0.2104:0.2466:0.543:0.0	rs35988443;rs58884530	3299	Q685J3	MUC17_HUMAN	N	3299	ENSP00000302716:S3299N	ENSP00000302716:S3299N	S	+	2	0	MUC17	100471313	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.085000	0.11250	-1.089000	0.03073	0.134000	0.15878	AGC	G|0.888;A|0.112	0.112	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684593	G	A	100684593	3	1	22	1	0	0	0	0	1	0	0	0	9974	971	34	2	9906	2	MUC17	7	100684593	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	100684593	58454070	4388	9496			15	44		65	52	9227	N	T_G_C_A	5.644462e-42
MUC17	140453	hgsc.bcm.edu	37	chr7	100695138	100695138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacttcgtagtggagtaccGggaccagaagccatactgca	11	11	0	1	rs73168398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100695138G>A	ENST00000306151.4	+	9	13062	c.12998G>A	c.(12997-12999)cGg>cAg	p.R4333Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4333					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)					GTGGAGTACCGGGACCAGAAG	0.572													G|||	536	0.107029	0.1021	0.0778	5008	,	,		19865	0.124		0.1143	False		,,,				2504	0.1094				p.R4333Q		Atlas-SNP	.											.	MUC17	804	.	0			c.G12998A						PASS	.	G	GLN/ARG	479,3927	226.2+/-241.8	25,429,1749	160	143	149		12998	0.1	0	7	dbSNP_130	149	936,7664	206.8+/-248.7	54,828,3418	yes	missense	MUC17	NM_001040105.1	43	79,1257,5167	AA,AG,GG		10.8837,10.8715,10.8796	benign	4333/4494	100695138	1415,11591	2203	4300	6503	SO:0001583	missense	140453	exon9			AGTACCGGGACCA	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.12998G>A	7.37:g.100695138G>A	ENSP00000302716:p.Arg4333Gln	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	217	0.09935897435897435	32	0.06504065040650407	27	0.07458563535911603	70	0.12237762237762238	88	0.11609498680738786	G	7.977	0.750437	0.15778	0.108715	0.108837	ENSG00000169876	ENST00000306151	T	0.43294	0.95	4.17	0.0575	0.14323	.	.	.	.	.	T	0.00144	0.0004	N	0.00926	-1.1	0.80722	P	0.0	B	0.32203	0.36	B	0.15052	0.012	T	0.23904	-1.0175	8	0.18710	T	0.47	.	6.1801	0.20465	0.6597:0.0:0.3403:0.0	.	4333	Q685J3	MUC17_HUMAN	Q	4333	ENSP00000302716:R4333Q	ENSP00000302716:R4333Q	R	+	2	0	MUC17	100481858	0.001000	0.12720	0.043000	0.18650	0.012000	0.07955	-0.054000	0.11826	-0.016000	0.14127	-0.658000	0.03865	CGG	G|0.898;A|0.102	0.102	strong		0.572	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100695138	G	A	100695138	3	1	22	1	0	0	0	0	1	0	0	0	9974	1116	39	1	13032	1	MUC17	7	100695138	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10545	100695138	58443525	4389	9497										
TRIM56	81844	hgsc.bcm.edu	37	chr7	100731748	100731748	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgggaaagacggagctggTacccagggaggtgaggagag	21	5	0	3	rs61730718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100731748T>G	ENST00000306085.6	+	3	1452	c.1155T>G	c.(1153-1155)ggT>ggG	p.G385G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	385					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGGAGCTGGTACCCAGGGAG	0.627													T|||	347	0.0692891	0.177	0.0605	5008	,	,		15776	0.001		0.0567	False		,,,				2504	0.0133				p.G385G	Ovarian(89;1092 1379 22756 38989 39611)	Atlas-SNP	.											.	TRIM56	123	.	0			c.T1155G						PASS	.	T		578,3604		36,506,1549	41	54	49		1155	-4.7	0	7	dbSNP_129	49	637,7817		29,579,3619	no	coding-synonymous	TRIM56	NM_030961.1		65,1085,5168	GG,GT,TT		7.5349,13.8211,9.6154		385/756	100731748	1215,11421	2091	4227	6318	SO:0001819	synonymous_variant	81844	exon3			AGCTGGTACCCAG	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1155T>G	7.37:g.100731748T>G		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	34	18	0.529412	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			T|0.931;G|0.069	0.069	strong		0.627	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		G	100731748	T	G	100731748	2	3	22	1	0	0	0	0	0	0	0	1	16527	1625	57	5		5	TRIM56	7	100731748	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36610	100731748	58406915	4390	9498										
TRIM56	81844	hgsc.bcm.edu	37	chr7	100731896	100731896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagagggagcccagaccTtggaggaggacagggcccag	18	9	0	3	rs61730716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100731896T>C	ENST00000306085.6	+	3	1600	c.1303T>C	c.(1303-1305)Ttg>Ctg	p.L435L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	435					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCCAGACCTTGGAGGAGGA	0.602													T|||	389	0.0776757	0.2095	0.0605	5008	,	,		17188	0.001		0.0567	False		,,,				2504	0.0123				p.L435L	Ovarian(89;1092 1379 22756 38989 39611)	Atlas-SNP	.											.	TRIM56	123	.	0			c.T1303C						PASS	.	T		678,3238		57,564,1337	47	65	59		1303	1.9	0	7	dbSNP_129	59	633,7631		29,575,3528	no	coding-synonymous	TRIM56	NM_030961.1		86,1139,4865	CC,CT,TT		7.6597,17.3136,10.7635		435/756	100731896	1311,10869	1958	4132	6090	SO:0001819	synonymous_variant	81844	exon3			CAGACCTTGGAGG	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1303T>C	7.37:g.100731896T>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	52	20	0.384615	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			T|0.922;C|0.078	0.078	strong		0.602	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		C	100731896	T	C	100731896	2	2	22	1	0	0	0	0	0	0	0	1	16527	1606	56	3		3	TRIM56	7	100731896	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	148	100731896	58406767	4391	9499										
TRIM56	81844	hgsc.bcm.edu	37	chr7	100732321	100732321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctatctcatcaaccccaaCggcgaagtgcagtggcgcag	10	14	3	0	rs11760747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100732321C>T	ENST00000306085.6	+	3	2025	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	576					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCCCAACGGCGAAGTGC	0.726													C|||	906	0.180911	0.3366	0.1052	5008	,	,		15445	0.1379		0.1312	False		,,,				2504	0.1196				p.N576N	Ovarian(89;1092 1379 22756 38989 39611)	Atlas-SNP	.											.	TRIM56	123	.	0			c.C1728T						PASS	.	C		1162,3026		169,824,1101	56	62	60		1728	-7.4	0	7	dbSNP_120	60	996,7416		54,888,3264	no	coding-synonymous	TRIM56	NM_030961.1		223,1712,4365	TT,TC,CC		11.8402,27.7459,17.127		576/756	100732321	2158,10442	2094	4206	6300	SO:0001819	synonymous_variant	81844	exon3			CCCCAACGGCGAA	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1728C>T	7.37:g.100732321C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	23	12	0.521739	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			C|0.857;T|0.143	0.143	strong		0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		T	100732321	C	T	100732321	2	4	22	1	0	0	0	0	0	0	0	1	16527	535	19	1		1	TRIM56	7	100732321	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	425	100732321	58406342	4392	9500										
ZNHIT1	10467	hgsc.bcm.edu	37	chr7	100866015	100866015	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgcgggactccctcagctCggcaagagactgcctcagtt	11	15	2	1	rs142012618		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100866015C>T	ENST00000305105.2	+	2	681	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	51					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCTCAGCTCGGCAAGAGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16246	0.0		0.001	False		,,,				2504	0.0				p.L51L		Atlas-SNP	.											.	ZNHIT1	21	.	0			c.C153T						PASS	.	C		7,4399	12.9+/-30.5	0,7,2196	57	53	54		153	-10.3	0.1	7	dbSNP_134	54	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	ZNHIT1	NM_006349.2		0,17,6486	TT,TC,CC		0.1163,0.1589,0.1307		51/155	100866015	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	10467	exon2			TCAGCTCGGCAAG	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.153C>T	7.37:g.100866015C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	173	84	0.485549	NM_006349	Q6IB12	Silent	SNP	ENST00000305105.2	37	CCDS5716.1																																																																																			C|0.999;T|0.001	0.001	strong		0.657	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		T	100866015	C	T	100866015	2	4	22	1	0	0	0	0	0	0	0	1	18203	871	31	1		1	ZNHIT1	7	100866015	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	133694	100866015	58272648	4393	9501										
CLDN15	24146	hgsc.bcm.edu	37	chr7	100875772	100875772	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacgggcatcacggacacTggagcctggtagggccgccg	17	13	1	0	rs1047319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:100875772T>G	ENST00000401528.1	-	6	1731	c.606A>C	c.(604-606)ccA>ccC	p.P202P	CLDN15_ENST00000308344.5_Silent_p.P202P|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	202					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.P202P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TCACGGACACTGGAGCCTGGT	0.716													T|||	1127	0.22504	0.1846	0.2061	5008	,	,		11952	0.1677		0.2435	False		,,,				2504	0.3333				p.P202P		Atlas-SNP	.											CLDN15,NS,lymphoid_neoplasm,0,1	CLDN15	20	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.A606C						PASS	.	T	,	837,3567		88,661,1453	38	35	36		606,606	-1.3	0	7	dbSNP_86	36	1950,6648		247,1456,2596	no	coding-synonymous,coding-synonymous	CLDN15	NM_001185080.1,NM_014343.2	,	335,2117,4049	GG,GT,TT		22.6797,19.0054,21.4352	,	202/229,202/229	100875772	2787,10215	2202	4299	6501	SO:0001819	synonymous_variant	24146	exon5			GGACACTGGAGCC	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.606A>C	7.37:g.100875772T>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	42	41	0.97619	NM_014343	B3KPB5	Silent	SNP	ENST00000401528.1	37	CCDS5717.1																																																																																			T|0.787;G|0.213	0.213	strong		0.716	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		G	100875772	T	G	100875772	2	3	22	1	0	0	0	0	0	0	0	1	3476	1567	55	5		5	CLDN15	7	100875772	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9757	100875772	58262891	4394	9502										
ALKBH4	54784	hgsc.bcm.edu	37	chr7	102098035	102098035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaggaccagcagggagcGggcgggtaaggggatggcca	22	7	0	1	rs150409598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:102098035G>A	ENST00000292566.3	-	3	754	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	239					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|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)			kidney(1)|lung(5)|skin(2)	8						AGCAGGGAGCGGGCGGGTAAG	0.701													G|||	22	0.00439297	0.0144	0.0029	5008	,	,		15602	0.0		0.0	False		,,,				2504	0.001				p.R239C		Atlas-SNP	.											.	ALKBH4	21	.	0			c.C715T						PASS	.	G	CYS/ARG	17,4385		0,17,2184	20	19	19		715	3	1	7	dbSNP_134	19	0,8590		0,0,4295	no	missense	ALKBH4	NM_017621.3	180	0,17,6479	AA,AG,GG		0.0,0.3862,0.1308	probably-damaging	239/303	102098035	17,12975	2201	4295	6496	SO:0001583	missense	54784	exon3			GGGAGCGGGCGGG	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.715C>T	7.37:g.102098035G>A	ENSP00000292566:p.Arg239Cys	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	48	28	0.583333	NM_017621	Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	CCDS5723.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	G	15.57	2.873700	0.51695	0.003862	0.0	ENSG00000160993	ENST00000292566	T	0.15718	2.4	5.08	3.05	0.35203	Oxoglutarate/iron-dependent oxygenase (1);	0.100392	0.64402	N	0.000011	T	0.11153	0.0272	M	0.89658	3.05	0.80722	D	1	P	0.49447	0.924	P	0.45577	0.486	T	0.02805	-1.1108	10	0.59425	D	0.04	-5.0926	7.4982	0.27503	0.0954:0.0:0.6433:0.2613	.	239	Q9NXW9	ALKB4_HUMAN	C	239	ENSP00000292566:R239C	ENSP00000292566:R239C	R	-	1	0	ALKBH4	101885040	0.994000	0.37717	0.991000	0.47740	0.438000	0.31896	1.036000	0.30228	1.137000	0.42214	0.561000	0.74099	CGC	G|0.996;A|0.004	0.004	strong		0.701	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		A	102098035	G	A	102098035	3	1	22	1	0	0	0	0	1	0	0	0	529	1116	39	1	197	1	ALKBH4	7	102098035	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1222263	102098035	57040628	4395	9503										
LRWD1	222229	hgsc.bcm.edu	37	chr7	102106459	102106459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttgtgccagttccccaaGctcgaggaactcagcctgga	11	14	1	0	rs146433593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:102106459G>A	ENST00000292616.5	+	2	428	c.276G>A	c.(274-276)aaG>aaA	p.K92K	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	92					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGTTCCCCAAGCTCGAGGAAC	0.637													G|||	18	0.00359425	0.0136	0.0	5008	,	,		19209	0.0		0.0	False		,,,				2504	0.0				p.K92K		Atlas-SNP	.											.	LRWD1	41	.	0			c.G276A						PASS	.	G		59,4347	57.4+/-93.9	0,59,2144	46	45	45		276	-5.5	0	7	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	LRWD1	NM_152892.1		0,59,6444	AA,AG,GG		0.0,1.3391,0.4536		92/648	102106459	59,12947	2203	4300	6503	SO:0001819	synonymous_variant	222229	exon2			CCCCAAGCTCGAG	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.276G>A	7.37:g.102106459G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	CCDS34715.1																																																																																			G|0.995;A|0.005	0.005	strong		0.637	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102106459	G	A	102106459	2	1	22	1	0	0	0	0	0	0	0	1	9047	962	34	2		2	LRWD1	7	102106459	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8424	102106459	57032204	4396	9504										
LRWD1	222229	hgsc.bcm.edu	37	chr7	102112980	102112980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccggggcagccagtccacGgtggcagtggtggtcctggc	19	12	0	0	rs3800987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:102112980G>A	ENST00000292616.5	+	13	1766	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	538					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCCAGTCCACGGTGGCAGTGG	0.716													G|||	2312	0.461661	0.3139	0.5519	5008	,	,		15340	0.372		0.662	False		,,,				2504	0.4836				p.T538T		Atlas-SNP	.											LRWD1,NS,carcinoma,0,1	LRWD1	41	1	0			c.G1614A						PASS	.	G		1560,2790		317,926,932	11	9	10		1614	-10.2	0	7	dbSNP_107	10	5482,3026		1822,1838,594	no	coding-synonymous	LRWD1	NM_152892.1		2139,2764,1526	AA,AG,GG		35.5665,35.8621,45.2325		538/648	102112980	7042,5816	2175	4254	6429	SO:0001819	synonymous_variant	222229	exon13			GTCCACGGTGGCA	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1614G>A	7.37:g.102112980G>A		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	19	8	0.421053	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	CCDS34715.1	1113	0.5096153846153846	173	0.3516260162601626	215	0.5939226519337016	227	0.3968531468531469	498	0.6569920844327177	G	0.094	-1.162080	0.01673	0.358621	0.644335	ENSG00000161036	ENST00000488689;ENST00000468175	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51767	P	6.799999999995698E-5	.	.	.	.	.	.	T	0.16719	-1.0393	3	.	.	.	-0.1259	4.6709	0.12689	0.5376:0.2198:0.0955:0.1471	rs3800987;rs10316934;rs13244777;rs17845221;rs17858035;rs17858491	.	.	.	Q	149;124	.	.	R	+	2	0	LRWD1	101899985	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-7.784000	0.00030	-3.315000	0.00189	-1.058000	0.02302	CGG	G|0.476;A|0.524	0.524	strong		0.716	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102112980	G	A	102112980	2	1	22	1	0	0	0	0	0	0	0	1	9047	1103	39	1		1	LRWD1	7	102112980	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6521	102112980	57025683	4397	9505										
RELN	5649	hgsc.bcm.edu	37	chr7	103124207	103124207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgctgtattgcagcagcacTgccttgtccacagcgtgggg	13	12	0	0	rs1062831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103124207T>C	ENST00000428762.1	-	62	10233	c.10074A>G	c.(10072-10074)gcA>gcG	p.A3358A	RELN_ENST00000343529.5_Silent_p.A3358A|RELN_ENST00000473945.1_5'UTR|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.A3358A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3358					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGCAGCACTGCCTTGTCCA	0.517													t|||	1160	0.231629	0.3828	0.147	5008	,	,		18742	0.2659		0.0954	False		,,,				2504	0.1922				p.A3358A	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.A10074G						PASS	.	T	,	1490,2916	476.1+/-357.5	256,978,969	193	166	175		10074,10074	-11.5	0	7	dbSNP_86	175	783,7817	185.0+/-232.9	39,705,3556	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	295,1683,4525	CC,CT,TT		9.1047,33.8175,17.4765	,	3358/3461,3358/3459	103124207	2273,10733	2203	4300	6503	SO:0001819	synonymous_variant	5649	exon62			CAGCACTGCCTTG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10074A>G	7.37:g.103124207T>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	134	59	0.440298	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			T|0.807;C|0.193	0.193	strong		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103124207	T	C	103124207	2	2	22	1	0	0	0	0	0	0	0	1	13220	1567	55	3		3	RELN	7	103124207	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1011227	103124207	56014456	4398	9506										
RELN	5649	hgsc.bcm.edu	37	chr7	103124265	103124265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctgtccgtctgcgacAtgctcccaatttgcaaaaca	8	13	1	0	rs150638029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103124265A>G	ENST00000428762.1	-	62	10175	c.10016T>C	c.(10015-10017)aTg>aCg	p.M3339T	RELN_ENST00000343529.5_Missense_Mutation_p.M3339T|RELN_ENST00000473945.1_5'UTR|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.M3339T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3339					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGTCTGCGACATGCTCCCAAT	0.453																																					p.M3339T	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.T10016C						PASS	.	A	THR/MET,THR/MET	2,4404	4.2+/-10.8	0,2,2201	106	99	101		10016,10016	2.9	0	7	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense	RELN	NM_005045.3,NM_173054.2	81,81	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign	3339/3461,3339/3459	103124265	2,13004	2203	4300	6503	SO:0001583	missense	5649	exon62			TGCGACATGCTCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10016T>C	7.37:g.103124265A>G	ENSP00000392423:p.Met3339Thr	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	92	50	0.543478	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	3.338	-0.135242	0.06711	4.54E-4	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20463	2.07;2.07;2.07	5.64	2.87	0.33458	.	0.695276	0.14403	N	0.321778	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	10	0.17832	T	0.49	.	8.0051	0.30321	0.4314:0.0:0.5686:0.0	.	3339;3339	P78509-2;P78509	.;RELN_HUMAN	T	3339;3339;3339;856;3339	ENSP00000392423:M3339T;ENSP00000345694:M3339T;ENSP00000388446:M3339T	ENSP00000345694:M3339T	M	-	2	0	RELN	102911501	0.017000	0.18338	0.013000	0.15412	0.558000	0.35554	1.440000	0.35024	0.327000	0.23409	-1.055000	0.02315	ATG	A|1.000;G|0.000	0.000	strong		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103124265	A	G	103124265	3	3	22	1	0	0	0	0	1	0	0	0	13220	217	8	2	382	2	RELN	7	103124265	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	58	103124265	56014398	4399	9507										
RELN	5649	hgsc.bcm.edu	37	chr7	103205949	103205949	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatttcaaactgcaaaaaGgtagatgctgacacatgaaa	7	8	2	3	rs78221963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103205949G>C	ENST00000428762.1	-	34	5145	c.4986C>G	c.(4984-4986)acC>acG	p.T1662T	RELN_ENST00000343529.5_Silent_p.T1662T|RELN_ENST00000424685.2_Silent_p.T1662T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1662					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGCAAAAAGGTAGATGCTG	0.423													G|||	41	0.0081869	0.0303	0.0014	5008	,	,		18251	0.0		0.0	False		,,,				2504	0.0				p.T1662T	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.C4986G						PASS	.	G	,	65,4341	59.9+/-96.7	0,65,2138	77	70	72		4986,4986	4	1	7	dbSNP_132	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,66,6437	CC,CG,GG		0.0116,1.4753,0.5075	,	1662/3461,1662/3459	103205949	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	5649	exon34			CAAAAAGGTAGAT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4986C>G	7.37:g.103205949G>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	65	31	0.476923	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			G|0.993;C|0.007	0.007	strong		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103205949	G	C	103205949	2	2	22	1	0	0	0	0	0	0	0	1	13220	987	35	4		4	RELN	7	103205949	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81684	103205949	55932714	4400	9508										
RELN	5649	hgsc.bcm.edu	37	chr7	103251218	103251218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtaaatacttgctgatgTaaattcctgacaacttggca	8	7	0	2	rs3025962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103251218T>C	ENST00000428762.1	-	22	3091	c.2932A>G	c.(2932-2934)Aca>Gca	p.T978A	RELN_ENST00000343529.5_Missense_Mutation_p.T978A|RELN_ENST00000424685.2_Missense_Mutation_p.T978A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	978			T -> A (in dbSNP:rs3025962).		associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTGCTGATGTAAATTCCTGA	0.413													T|||	92	0.0183706	0.0651	0.0086	5008	,	,		18923	0.0		0.0	False		,,,				2504	0.0				p.T978A	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.A2932G						PASS	.	T	ALA/THR,ALA/THR	211,4195	131.0+/-167.6	4,203,1996	146	123	131		2932,2932	6.1	1	7	dbSNP_102	131	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	58,58	4,206,6293	CC,CT,TT		0.0349,4.7889,1.6454	probably-damaging,probably-damaging	978/3461,978/3459	103251218	214,12792	2203	4300	6503	SO:0001583	missense	5649	exon22			CTGATGTAAATTC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2932A>G	7.37:g.103251218T>C	ENSP00000392423:p.Thr978Ala	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	T	23.6	4.434312	0.83776	0.047889	3.49E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24908	1.83;2.09;1.83	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.06325	0.0163	M	0.61703	1.905	0.58432	D	0.999994	D;D	0.76494	0.999;0.982	D;D	0.83275	0.996;0.952	T	0.01235	-1.1410	10	0.62326	D	0.03	.	15.2149	0.73258	0.0:0.0:0.0:1.0	rs3025962;rs52799777;rs3025962	978;978	P78509-2;P78509	.;RELN_HUMAN	A	978	ENSP00000392423:T978A;ENSP00000345694:T978A;ENSP00000388446:T978A	ENSP00000345694:T978A	T	-	1	0	RELN	103038454	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.358000	0.79466	2.333000	0.79357	0.533000	0.62120	ACA	T|0.978;C|0.022	0.022	strong		0.413	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103251218	T	C	103251218	3	2	22	1	0	0	0	0	1	0	0	0	13220	1638	57	2	7626	2	RELN	7	103251218	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45269	103251218	55887445	4401	9509										
RELN	5649	hgsc.bcm.edu	37	chr7	103292224	103292224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcccatggttggtagaaaaTtccaagctgacactaataaa	8	9	0	2	rs2072403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103292224T>C	ENST00000428762.1	-	15	1935	c.1776A>G	c.(1774-1776)gaA>gaG	p.E592E	RELN_ENST00000343529.5_Silent_p.E592E|RELN_ENST00000424685.2_Silent_p.E592E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	592					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGTAGAAAATTCCAAGCTGA	0.458													C|||	603	0.120407	0.2209	0.111	5008	,	,		16673	0.1429		0.0567	False		,,,				2504	0.0337				p.E592E	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											RELN,NS,malignant_melanoma,-2,1	RELN	593	1	0			c.A1776G						scavenged	.	C	,	794,3612	750.5+/-412.1	80,634,1489	61	50	54		1776,1776	1.5	1	7	dbSNP_96	54	423,8177	800.0+/-407.4	10,403,3887	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	90,1037,5376	CC,CT,TT		4.9186,18.0209,9.3572	,	592/3461,592/3459	103292224	1217,11789	2203	4300	6503	SO:0001819	synonymous_variant	5649	exon15			AGAAAATTCCAAG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1776A>G	7.37:g.103292224T>C		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			T|0.899;C|0.101	0.101	strong		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103292224	T	C	103292224	2	2	22	1	0	0	0	0	0	0	0	1	13220	1490	52	2		2	RELN	7	103292224	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41006	103292224	55846439	4402	9510										
RELN	5649	hgsc.bcm.edu	37	chr7	103301976	103301977	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccaagacatcccatctINSaaaaaaaaagggggattaag					rs146986040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103301976_103301977insA	ENST00000428762.1	-	12	1449		c.e12-2		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACATCCCATCTAAAAAAAAAGG	0.351													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	95	0.0189696	0.0666	0.0086	5008	,	,		18640	0.0		0.001	False		,,,				2504	0.0				.	NSCLC(146;835 1944 15585 22231 52158)	Pindel	.											.	RELN	593	.	0			c.1290-2->T						PASS	.																																			SO:0001630	splice_region_variant	5649	exon13			.		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1290-2->T	7.37:g.103301985_103301985dupA		Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	68	14	0.206	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	INS	ENST00000428762.1	37	CCDS47680.1																																																																																			.	.	strong		0.351	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	A	103301977	-	A	103301976	8	5	22	1	0	1	1	0	0	0	1	0	13220	1536	53	0	9310	0	RELN	7	103301976	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	9752	103301976	55836687	4403	9511										
ORC5L	5001	hgsc.bcm.edu	37	chr7	103844599	103844599	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttattcttacctctaaagtTttcaacaacgtttgtgttac	4	8	3	0	rs2307413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:103844599T>A	ENST00000297431.4	-	2	298	c.156A>T	c.(154-156)aaA>aaT	p.K52N	ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.K52N|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	52			K -> N (in dbSNP:rs2307413).		DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCTCTAAAGTTTTCAACAACG	0.299													T|||	72	0.014377	0.053	0.0029	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.0				p.K52N		Atlas-SNP	.											.	ORC5	48	.	0			c.A156T						PASS	.	T	ASN/LYS,ASN/LYS	219,4183	128.6+/-165.4	8,203,1990	59	60	59		156,156	2.7	1	7	dbSNP_100	59	2,8594	1.2+/-3.3	0,2,4296	yes	missense,missense	ORC5	NM_002553.3,NM_181747.3	94,94	8,205,6286	AA,AT,TT		0.0233,4.975,1.7003	benign,benign	52/436,52/325	103844599	221,12777	2201	4298	6499	SO:0001583	missense	5001	exon2			TAAAGTTTTCAAC		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.156A>T	7.37:g.103844599T>A	ENSP00000297431:p.Lys52Asn	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_002553	A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	CCDS5734.1	33	0.01510989010989011	31	0.06300813008130081	2	0.0055248618784530384	0	0.0	0	0.0	T	10.43	1.347141	0.24426	0.04975	2.33E-4	ENSG00000164815	ENST00000297431;ENST00000447452	T;T	0.62941	-0.01;-0.01	5.16	2.74	0.32292	.	0.189382	0.56097	D	0.000033	T	0.05364	0.0142	N	0.17474	0.49	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.02431	-1.1160	10	0.23302	T	0.38	.	3.8148	0.08811	0.1211:0.0725:0.371:0.4354	rs2307413;rs16873425;rs52800217;rs2307413	52;52;52	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	N	52	ENSP00000297431:K52N;ENSP00000395747:K52N	ENSP00000297431:K52N	K	-	3	2	ORC5	103631835	0.995000	0.38212	1.000000	0.80357	0.913000	0.54294	0.264000	0.18497	0.294000	0.22547	-0.438000	0.05819	AAA	T|0.985;A|0.015	0.015	strong		0.299	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		A	103844599	T	A	103844599	3	1	22	1	0	0	0	0	1	0	0	0	11265	1838	64	5	1301	5	ORC5L	7	103844599	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	542623	103844599	55294064	4404	9512										
MLL5	55904	hgsc.bcm.edu	37	chr7	104717517	104717517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcaaataacaaccagtaCagtgagggtgttcagaggga	13	6	1	2	rs2240455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:104717517C>T	ENST00000311117.3	+	10	1421	c.876C>T	c.(874-876)taC>taT	p.Y292Y	KMT2E_ENST00000257745.4_Silent_p.Y292Y|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Silent_p.Y292Y|KMT2E_ENST00000334877.4_Silent_p.Y292Y	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	292					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACAACCAGTACAGTGAGGGTG	0.388													T|||	1919	0.383187	0.59	0.2435	5008	,	,		17085	0.6319		0.1342	False		,,,				2504	0.2025				p.Y292Y		Atlas-SNP	.											.	MLL5	173	.	0			c.C876T						PASS	.	T	,	2304,2102	574.8+/-383.8	606,1092,505	127	118	121		876,876	-2.9	1	7	dbSNP_98	121	1057,7543	770.7+/-407.7	69,919,3312	no	coding-synonymous,coding-synonymous	MLL5	NM_018682.3,NM_182931.2	,	675,2011,3817	TT,TC,CC		12.2907,47.7077,25.8419	,	292/1859,292/1859	104717517	3361,9645	2203	4300	6503	SO:0001819	synonymous_variant	55904	exon9			CCAGTACAGTGAG	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.876C>T	7.37:g.104717517C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	193	97	0.502591	NM_018682	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	CCDS34723.1																																																																																			C|0.620;T|0.380	0.380	strong		0.388	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			T	104717517	C	T	104717517	2	4	22	1	0	0	0	0	0	0	0	1	9624	489	17	2		2	MLL5	7	104717517	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	872918	104717517	54421146	4405	9513										
RINT1	60561	hgsc.bcm.edu	37	chr7	105177041	105177041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttacagttcttattggaAgtaaacaagtcagtgaaggt	10	4	2	1	rs11556986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:105177041A>T	ENST00000257700.2	+	3	349	c.118A>T	c.(118-120)Agt>Tgt	p.S40C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	40			S -> C (in dbSNP:rs11556986).		G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTTATTGGAAGTAAACAAGT	0.313													A|||	959	0.191494	0.2738	0.17	5008	,	,		16236	0.0218		0.1948	False		,,,				2504	0.2669				p.S40C		Atlas-SNP	.											RINT1,NS,carcinoma,-2,1	RINT1	65	1	0			c.A118T						PASS	.	A	CYS/SER	1117,3289	400.8+/-331.7	135,847,1221	178	184	182		118	2.8	0	7	dbSNP_120	182	1548,7052	292.3+/-300.8	159,1230,2911	yes	missense	RINT1	NM_021930.4	112	294,2077,4132	TT,TA,AA		18.0,25.3518,20.4905	possibly-damaging	40/793	105177041	2665,10341	2203	4300	6503	SO:0001583	missense	60561	exon3			ATTGGAAGTAAAC	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.118A>T	7.37:g.105177041A>T	ENSP00000257700:p.Ser40Cys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	115	60	0.521739	NM_021930	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	353	0.16163003663003664	122	0.24796747967479674	62	0.1712707182320442	8	0.013986013986013986	161	0.21240105540897097	A	9.350	1.065381	0.20067	0.253518	0.18	ENSG00000135249	ENST00000257700	T	0.25414	1.8	5.2	2.75	0.32379	.	0.525534	0.21062	N	0.080810	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.23084	-1.0198	9	0.56958	D	0.05	-3.7725	6.7224	0.23338	0.7888:0.0:0.0754:0.1358	rs11556986;rs52812744	40	Q6NUQ1	RINT1_HUMAN	C	40	ENSP00000257700:S40C	ENSP00000257700:S40C	S	+	1	0	RINT1	104964277	0.884000	0.30299	0.018000	0.16275	0.252000	0.25951	1.413000	0.34725	0.279000	0.22186	0.402000	0.26972	AGT	A|0.809;T|0.191	0.191	strong		0.313	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		T	105177041	A	T	105177041	3	4	22	1	0	0	0	0	1	0	0	0	13376	72	3	5	128	5	RINT1	7	105177041	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	459524	105177041	53961622	4406	9514										
RINT1	60561	hgsc.bcm.edu	37	chr7	105182995	105182995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagccatttgctgactgcGcaaccttggatggacgatct	10	11	1	1	rs7805216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:105182995G>A	ENST00000257700.2	+	4	645	c.414G>A	c.(412-414)gcG>gcA	p.A138A	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	138					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCTGACTGCGCAACCTTGGA	0.403													G|||	307	0.0613019	0.2209	0.0187	5008	,	,		16144	0.0		0.002	False		,,,				2504	0.0				p.A138A		Atlas-SNP	.											.	RINT1	65	.	0			c.G414A						PASS	.	G		770,3636	312.7+/-292.7	65,640,1498	120	112	115		414	-10	0.1	7	dbSNP_116	115	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	RINT1	NM_021930.4		65,646,5792	AA,AG,GG		0.0698,17.4762,5.9665		138/793	105182995	776,12230	2203	4300	6503	SO:0001819	synonymous_variant	60561	exon4			GACTGCGCAACCT	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.414G>A	7.37:g.105182995G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	218	106	0.486239	NM_021930	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	CCDS34726.1																																																																																			G|0.939;A|0.061	0.061	strong		0.403	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		A	105182995	G	A	105182995	2	1	22	1	0	0	0	0	0	0	0	1	13376	1074	38	1		1	RINT1	7	105182995	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5954	105182995	53955668	4407	9515										
CDHR3	222256	hgsc.bcm.edu	37	chr7	105658460	105658460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagtggactgtgaaacaaCccccatctatattctcagaa	6	10	2	2	rs73195662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:105658460C>G	ENST00000317716.9	+	12	1675	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S	CDHR3_ENST00000478080.1_Missense_Mutation_p.T444S|CDHR3_ENST00000542731.1_Missense_Mutation_p.T532S|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGTGAAACAACCCCCATCTAT	0.488													C|||	337	0.0672923	0.0431	0.0447	5008	,	,		18793	0.0387		0.0775	False		,,,				2504	0.135				p.T532S		Atlas-SNP	.											.	CDHR3	153	.	0			c.C1595G						PASS	.	C	SER/THR	183,3713		4,175,1769	65	64	64		1595	-1.2	0	7	dbSNP_130	64	545,7757		16,513,3622	yes	missense	CDHR3	NM_152750.4	58	20,688,5391	GG,GC,CC		6.5647,4.6971,5.9682	benign	532/886	105658460	728,11470	1948	4151	6099	SO:0001583	missense	222256	exon12			AAACAACCCCCAT	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1595C>G	7.37:g.105658460C>G	ENSP00000325954:p.Thr532Ser	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_152750	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	116	0.05311355311355311	18	0.036585365853658534	17	0.04696132596685083	23	0.04020979020979021	58	0.07651715039577836	C	7.175	0.588425	0.13812	0.046971	0.065647	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.51325	0.71;0.71;0.71	5.66	-1.2	0.09554	Cadherin (5);Cadherin-like (1);	0.771574	0.12213	N	0.489099	T	0.01287	0.0042	N	0.26162	0.8	0.58432	P	1.0000000000287557E-6	B;B	0.22983	0.078;0.078	B;B	0.21360	0.023;0.034	T	0.09552	-1.0669	9	0.28530	T	0.3	-2.9536	1.3079	0.02092	0.2058:0.4159:0.1062:0.272	.	519;532	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	S	532;532;444	ENSP00000439766:T532S;ENSP00000325954:T532S;ENSP00000417771:T444S	ENSP00000325954:T532S	T	+	2	0	CDHR3	105445696	0.002000	0.14202	0.006000	0.13384	0.099000	0.18886	-0.044000	0.12023	0.068000	0.16574	0.655000	0.94253	ACC	C|0.945;G|0.055	0.055	strong		0.488	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		G	105658460	C	G	105658460	3	3	22	1	0	0	0	0	1	0	0	0	3120	507	18	4	1641	4	CDHR3	7	105658460	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	475465	105658460	53480203	4408	9516										
CDHR3	222256	hgsc.bcm.edu	37	chr7	105671267	105671267	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgaacactatctttgaTggagaagccatagatccagg	10	8	1	5	rs10270308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:105671267T>C	ENST00000317716.9	+	18	2414	c.2334T>C	c.(2332-2334)gaT>gaC	p.D778D	CDHR3_ENST00000478080.1_Silent_p.D690D|CDHR3_ENST00000542731.1_Silent_p.D778D|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	778					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTATCTTTGATGGAGAAGCCA	0.418													T|||	1065	0.21266	0.382	0.1729	5008	,	,		23524	0.3621		0.0129	False		,,,				2504	0.0634				p.D778D		Atlas-SNP	.											.	CDHR3	153	.	0			c.T2334C						PASS	.	T		1187,2657		184,819,919	122	118	120	http://www.ncbi.nlm.nih.gov/pubmed?term	2334	1.5	1	7	dbSNP_119	120	44,8230		0,44,4093	yes	coding-synonymous	CDHR3	NM_152750.4		184,863,5012	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	0.5318,30.8793,10.1584		778/886	105671267	1231,10887	1922	4137	6059	SO:0001819	synonymous_variant	222256	exon18			CTTTGATGGAGAA	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2334T>C	7.37:g.105671267T>C		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	180	85	0.472222	NM_152750	Q8TCI7	Silent	SNP	ENST00000317716.9	37	CCDS47684.1																																																																																			T|0.795;C|0.205	0.205	strong		0.418	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		C	105671267	T	C	105671267	2	2	22	1	0	0	0	0	0	0	0	1	3120	1461	51	2		2	CDHR3	7	105671267	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12807	105671267	53467396	4409	9517										
PRKAR2B	5577	hgsc.bcm.edu	37	chr7	106791447	106791447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagctttattgagtcactGccattccttaaatctttgga	7	8	2	1	rs3729878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:106791447G>A	ENST00000265717.4	+	7	1081	c.822G>A	c.(820-822)ctG>ctA	p.L274L		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	274					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTGAGTCACTGCCATTCCTTA	0.303													G|||	196	0.0391374	0.1422	0.0115	5008	,	,		14361	0.0		0.0	False		,,,				2504	0.0				p.L274L		Atlas-SNP	.											.	PRKAR2B	34	.	0			c.G822A						PASS	.	G		532,3874	238.4+/-249.8	30,472,1701	72	74	73		822	4.6	1	7	dbSNP_107	73	9,8587	7.1+/-27.0	0,9,4289	no	coding-synonymous	PRKAR2B	NM_002736.2		30,481,5990	AA,AG,GG		0.1047,12.0744,4.1609		274/419	106791447	541,12461	2203	4298	6501	SO:0001819	synonymous_variant	5577	exon7			GTCACTGCCATTC		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.822G>A	7.37:g.106791447G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	209	95	0.454545	NM_002736	A4D0R9	Silent	SNP	ENST00000265717.4	37	CCDS5740.1																																																																																			G|0.953;A|0.047	0.047	strong		0.303	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			A	106791447	G	A	106791447	2	1	22	1	0	0	0	0	0	0	0	1	12506	1306	46	2		2	PRKAR2B	7	106791447	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1120180	106791447	52347216	4410	9518										
COG5	10466	hgsc.bcm.edu	37	chr7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccataagtcattataaagaCgtaataatttagggtattct	6	5	2	1	rs35258567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:106938740C>T	ENST00000347053.3	-	12	1303	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000393603.2_Missense_Mutation_p.R418H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	418					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTATAAAGACGTAATAATTT	0.343													C|||	7	0.00139776	0.0053	0.0	5008	,	,		12763	0.0		0.0	False		,,,				2504	0.0				p.R418H		Atlas-SNP	.											COG5,colon,carcinoma,-1,1	COG5	78	1	0			c.G1253A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	89	84	86		1253,1253,1253	4.8	1	7	dbSNP_126	86	0,8600		0,0,4300	yes	missense,missense,missense	COG5	NM_001161520.1,NM_006348.3,NM_181733.2	29,29,29	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	probably-damaging,probably-damaging,probably-damaging	418/824,418/861,418/840	106938740	15,12991	2203	4300	6503	SO:0001583	missense	10466	exon12			TAAAGACGTAATA	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1253G>A	7.37:g.106938740C>T	ENSP00000334703:p.Arg418His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_006348	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.56	2.571964	0.45798	0.003404	0.0	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.71934	-0.61;-0.61;-0.61	5.68	4.8	0.61643	.	0.055380	0.64402	D	0.000001	T	0.67173	0.2865	M	0.76170	2.325	0.49687	D	0.999819	B;P	0.41366	0.203;0.747	B;B	0.31495	0.026;0.131	T	0.72191	-0.4365	10	0.56958	D	0.05	-11.5895	14.608	0.68495	0.0:0.9302:0.0:0.0698	rs35258567	418;418	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	418	ENSP00000334703:R418H;ENSP00000297135:R418H;ENSP00000377228:R418H	ENSP00000297135:R418H	R	-	2	0	COG5	106725976	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.194000	0.58393	1.417000	0.47077	-0.142000	0.14014	CGT	C|0.999;T|0.001	0.001	strong		0.343	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			T	106938740	C	T	106938740	3	4	22	1	0	0	0	0	1	0	0	0	3661	536	19	1	1377	1	COG5	7	106938740	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147293	106938740	52199923	4411	9519										
COG5	10466	hgsc.bcm.edu	37	chr7	107002806	107002806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctccatattggtccagaAtgaggcacgcaaagctgcag	10	10	1	2	rs2269970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107002806A>G	ENST00000347053.3	-	9	1038	c.988T>C	c.(988-990)Ttc>Ctc	p.F330L	COG5_ENST00000297135.3_Missense_Mutation_p.F330L|COG5_ENST00000393603.2_Missense_Mutation_p.F330L	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	330			F -> L (in dbSNP:rs2269970). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9792665}.		intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.F330L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTGGTCCAGAATGAGGCACGC	0.393													G|||	3247	0.648363	0.9803	0.5058	5008	,	,		16792	0.6429		0.5417	False		,,,				2504	0.4162				p.F330L		Atlas-SNP	.											COG5,NS,carcinoma,0,1	COG5	78	1	1	Substitution - Missense(1)	stomach(1)	c.T988C						PASS	.	G	LEU/PHE,LEU/PHE,LEU/PHE	3973,433	211.8+/-231.9	1784,405,14	83	82	82		988,988,988	4.8	0.7	7	dbSNP_100	82	4542,4058	559.6+/-387.4	1211,2120,969	yes	missense,missense,missense	COG5	NM_001161520.1,NM_006348.3,NM_181733.2	22,22,22	2995,2525,983	GG,GA,AA		47.186,9.8275,34.5302	benign,benign,benign	330/824,330/861,330/840	107002806	8515,4491	2203	4300	6503	SO:0001583	missense	10466	exon9			TCCAGAATGAGGC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.988T>C	7.37:g.107002806A>G	ENSP00000334703:p.Phe330Leu	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	239	238	0.995816	NM_006348	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	1465	0.6707875457875457	478	0.9715447154471545	195	0.5386740331491713	370	0.6468531468531469	422	0.5567282321899736	G	7.813	0.716216	0.15306	0.901725	0.52814	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.27402	1.67;1.67;1.67	5.69	4.8	0.61643	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00013	-2.945	0.43471	P	0.0043159999999999865	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40869	-0.9540	9	0.02654	T	1	-5.2259	13.0763	0.59089	0.1317:0.0:0.8683:0.0	rs2269970;rs10377771;rs17351107;rs52812313;rs59416115;rs2269970	330;330	Q9UP83;Q9UP83-2	COG5_HUMAN;.	L	330	ENSP00000334703:F330L;ENSP00000297135:F330L;ENSP00000377228:F330L	ENSP00000297135:F330L	F	-	1	0	COG5	106790042	1.000000	0.71417	0.729000	0.30791	0.445000	0.32107	6.030000	0.70903	0.865000	0.35603	-0.119000	0.15052	TTC	A|0.339;G|0.661	0.661	strong		0.393	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			G	107002806	A	G	107002806	3	3	22	1	0	0	0	0	1	0	0	0	3661	101	4	2	1654	2	COG5	7	107002806	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	64066	107002806	52135857	4412	9520										
COG5	10466	hgsc.bcm.edu	37	chr7	107204371	107204371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgggttgatgtcgtcagCagcagaacggctccgcccag	14	13	1	2	rs73419464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107204371C>T	ENST00000347053.3	-	1	114	c.64G>A	c.(64-66)Gct>Act	p.A22T	DUS4L_ENST00000402620.1_5'Flank|DUS4L_ENST00000498786.1_Intron|DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Missense_Mutation_p.A22T|COG5_ENST00000393603.2_Missense_Mutation_p.A22T	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	22					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATGTCGTCAGCAGCAGAACGG	0.697													C|||	152	0.0303514	0.1089	0.0101	5008	,	,		12302	0.0		0.0	False		,,,				2504	0.001				p.A22T		Atlas-SNP	.											.	COG5	78	.	0			c.G64A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	347,4057		15,317,1870	18	18	18		64,64,64	1.7	0.4	7	dbSNP_130	18	7,8587		0,7,4290	yes	missense,missense,missense	COG5	NM_181733.2,NM_006348.3,NM_001161520.1	58,58,58	15,324,6160	TT,TC,CC		0.0815,7.8792,2.7235	benign,benign,benign	22/840,22/861,22/824	107204371	354,12644	2202	4297	6499	SO:0001583	missense	10466	exon1			CGTCAGCAGCAGA	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.64G>A	7.37:g.107204371C>T	ENSP00000334703:p.Ala22Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	112	64	0.571429	NM_006348	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	62	0.028388278388278388	57	0.11585365853658537	5	0.013812154696132596	0	0.0	0	0.0	C	14.15	2.449883	0.43531	0.078792	8.15E-4	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.18502	2.22;2.21;2.21	4.76	1.72	0.24424	.	0.904518	0.09273	N	0.824937	T	0.00144	0.0004	N	0.08118	0	0.21355	N	0.999718	B;B	0.21905	0.037;0.062	B;B	0.20184	0.013;0.028	T	0.38067	-0.9678	10	0.28530	T	0.3	-1.6692	12.2534	0.54611	0.0:0.4485:0.5515:0.0	.	22;22	Q9UP83;Q9UP83-2	COG5_HUMAN;.	T	22	ENSP00000334703:A22T;ENSP00000297135:A22T;ENSP00000377228:A22T	ENSP00000297135:A22T	A	-	1	0	COG5	106991607	0.002000	0.14202	0.354000	0.25760	0.206000	0.24218	0.304000	0.19228	0.574000	0.29417	0.591000	0.81541	GCT	C|0.970;T|0.030	0.030	strong		0.697	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			T	107204371	C	T	107204371	3	4	22	1	0	0	0	0	1	0	0	0	3661	710	25	2	2610	2	COG5	7	107204371	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201565	107204371	51934292	4413	9521										
SLC26A4	5172	hgsc.bcm.edu	37	chr7	107342294	107342294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcatcataagtgatgctgTttcaacaaataatgcttttg	8	6	2	1	rs17154335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107342294T>G	ENST00000265715.3	+	17	2050	c.1826T>G	c.(1825-1827)gTt>gGt	p.V609G	SLC26A4_ENST00000544569.1_Missense_Mutation_p.V196G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.V178G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.V170G|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	609	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.		V -> G (in dbSNP:rs17154335). {ECO:0000269|PubMed:15689455, ECO:0000269|PubMed:19204907}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGTGATGCTGTTTCAACAAAT	0.343									Pendred syndrome				G|||	229	0.0457268	0.1657	0.0115	5008	,	,		21715	0.0		0.002	False		,,,				2504	0.0				p.V609G		Atlas-SNP	.											.	SLC26A4	117	.	0			c.T1826G	GRCh37	CM050323	SLC26A4	M	rs17154335	PASS	.	G	GLY/VAL	629,3777	767.8+/-413.5	43,543,1617	97	96	96	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1826	5.8	0.9	7	dbSNP_123	96	7,8593	818.9+/-406.8	0,7,4293	yes	missense	SLC26A4	NM_000441.1	109	43,550,5910	GG,GT,TT		0.0814,14.276,4.8901	benign	609/781	107342294	636,12370	2203	4300	6503	SO:0001583	missense	5172	exon17	Familial Cancer Database	Goiter-Deafness syndrome	ATGCTGTTTCAAC	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1826T>G	7.37:g.107342294T>G	ENSP00000265715:p.Val609Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	92	43	0.467391	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	78	0.03571428571428571	71	0.1443089430894309	7	0.019337016574585635	0	0.0	0	0.0	G	14.16	2.453089	0.43531	0.14276	8.14E-4	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94793	-3.2;-3.47;-3.52;-3.51	5.83	5.83	0.93111	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.120219	0.56097	N	0.000035	T	0.02304	0.0071	N	0.00237	-1.79	0.30149	P	0.80322	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57493	-0.7802	9	0.20046	T	0.44	.	16.5365	0.84373	0.0:0.0:0.8681:0.1319	rs17154335;rs17154335	170;196;609	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	G	609;170;196;178	ENSP00000265715:V609G;ENSP00000439743:V170G;ENSP00000437427:V196G;ENSP00000441209:V178G	ENSP00000265715:V609G	V	+	2	0	SLC26A4	107129530	1.000000	0.71417	0.889000	0.34880	0.977000	0.68977	3.712000	0.54875	1.478000	0.48253	-0.121000	0.15023	GTT	T|0.952;G|0.048	0.048	strong		0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		G	107342294	T	G	107342294	3	3	22	1	0	0	0	0	1	0	0	0	14519	1725	60	5	1888	5	SLC26A4	7	107342294	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	137923	107342294	51796369	4414	9522										
LAMB1	3912	hgsc.bcm.edu	37	chr7	107591720	107591720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagttcctggcactcgctGcaggtgcggcctccaaaccc	11	15	0	1	rs25660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107591720G>A	ENST00000222399.6	-	24	3572	c.3342C>T	c.(3340-3342)tgC>tgT	p.C1114C	LAMB1_ENST00000393561.1_Silent_p.C1138C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1114	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCACTCGCTGCAGGTGCGGC	0.607													G|||	229	0.0457268	0.1694	0.0043	5008	,	,		16184	0.0		0.002	False		,,,				2504	0.0				p.C1114C		Atlas-SNP	.											.	LAMB1	185	.	0			c.C3342T						PASS	.	G		632,3774	269.2+/-268.9	40,552,1611	54	50	51		3342	4.1	1	7	dbSNP_72	51	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	LAMB1	NM_002291.2		40,557,5906	AA,AG,GG		0.0581,14.3441,4.8977		1114/1787	107591720	637,12369	2203	4300	6503	SO:0001819	synonymous_variant	3912	exon24			CTCGCTGCAGGTG	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3342C>T	7.37:g.107591720G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	150	150	1	NM_002291	Q14D91	Silent	SNP	ENST00000222399.6	37	CCDS5750.1																																																																																			G|0.957;A|0.043	0.043	strong		0.607	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107591720	G	A	107591720	2	1	22	1	0	0	0	0	0	0	0	1	8610	1311	46	2		2	LAMB1	7	107591720	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	249426	107591720	51546943	4415	9523										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107696289	107696289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaatggtgtggtcccaCtgatcaaagcacaagtgaca	11	8	1	3	rs17154865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107696289C>T	ENST00000388781.3	-	25	3626	c.3543G>A	c.(3541-3543)caG>caA	p.Q1181Q	LAMB4_ENST00000388780.3_Silent_p.Q1181Q|LAMB4_ENST00000205386.4_Silent_p.Q1181Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1181	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTGGTCCCACTGATCAAAGC	0.542													T|||	1003	0.20028	0.6906	0.0692	5008	,	,		19520	0.004		0.0149	False		,,,				2504	0.0235				p.Q1181Q		Atlas-SNP	.											.	LAMB4	253	.	0			c.G3543A						PASS	.	T		2505,1901	545.7+/-376.8	723,1059,421	94	91	92		3543	-10.3	0	7	dbSNP_123	92	112,8488	814.3+/-407.0	1,110,4189	no	coding-synonymous	LAMB4	NM_007356.2		724,1169,4610	TT,TC,CC		1.3023,43.1457,20.1215		1181/1762	107696289	2617,10389	2203	4300	6503	SO:0001819	synonymous_variant	22798	exon25			GTCCCACTGATCA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3543G>A	7.37:g.107696289C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	145	82	0.565517	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			C|0.806;T|0.194	0.194	strong		0.542	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107696289	C	T	107696289	2	4	22	1	0	0	0	0	0	0	0	1	8613	564	20	2		2	LAMB4	7	107696289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104569	107696289	51442374	4416	9524										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107706208	107706208	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcactatactgcataccCgtataaccttgaagacaatt	5	11	0	2	rs73725316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107706208C>T	ENST00000388781.3	-	21	2918	c.2835G>A	c.(2833-2835)acG>acA	p.T945T	LAMB4_ENST00000388780.3_Splice_Site_p.T945T|LAMB4_ENST00000205386.4_Splice_Site_p.T945T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	945	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACTGCATACCCGTATAACCTT	0.373													C|||	42	0.00838658	0.0303	0.0029	5008	,	,		20016	0.0		0.0	False		,,,				2504	0.0				p.T945T		Atlas-SNP	.											.	LAMB4	253	.	0			c.G2835A						PASS	.	C		113,4293	85.3+/-124.0	2,109,2092	123	116	118		2835	2.2	0.6	7	dbSNP_130	118	0,8600		0,0,4300	yes	coding-synonymous-near-splice	LAMB4	NM_007356.2		2,109,6392	TT,TC,CC		0.0,2.5647,0.8688		945/1762	107706208	113,12893	2203	4300	6503	SO:0001630	splice_region_variant	22798	exon21			CATACCCGTATAA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2836+1G>A	7.37:g.107706208C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	108	51	0.472222	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			C|0.992;T|0.008	0.008	strong		0.373	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	Silent	T	107706208	C	T	107706208	5	4	22	1	0	0	0	0	0	0	1	0	8613	666	23	1	2506	1	LAMB4	7	107706208	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9919	107706208	51432455	4417	9525										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107738948	107738948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttacaaaggcactggccGgccacagaccctaaggcagg	11	13	1	1	rs451252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107738948G>A	ENST00000388781.3	-	11	1343	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	LAMB4_ENST00000418464.1_Silent_p.A420A|LAMB4_ENST00000414450.2_Silent_p.A420A|LAMB4_ENST00000388780.3_Silent_p.A420A|LAMB4_ENST00000205386.4_Silent_p.A420A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	420	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCACTGGCCGGCCACAGACC	0.567													G|||	1531	0.305711	0.2458	0.3689	5008	,	,		15850	0.2609		0.3767	False		,,,				2504	0.3149				p.A420A		Atlas-SNP	.											.	LAMB4	253	.	0			c.C1260T						PASS	.	G		1190,3216	416.3+/-337.5	182,826,1195	122	106	111		1260	-8.4	0.2	7	dbSNP_80	111	3374,5226	500.2+/-375.2	694,1986,1620	no	coding-synonymous	LAMB4	NM_007356.2		876,2812,2815	AA,AG,GG		39.2326,27.0086,35.0915		420/1762	107738948	4564,8442	2203	4300	6503	SO:0001819	synonymous_variant	22798	exon11			CTGGCCGGCCACA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1260C>T	7.37:g.107738948G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	139	73	0.52518	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			G|0.674;A|0.326	0.326	strong		0.567	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107738948	G	A	107738948	2	1	22	1	0	0	0	0	0	0	0	1	8613	1103	39	1		1	LAMB4	7	107738948	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32740	107738948	51399715	4418	9526										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107743664	107743664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacagcggctggagtggctAttacagctgcacgctgaaag	14	9	0	2	rs402113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107743664A>G	ENST00000388781.3	-	10	1088	c.1005T>C	c.(1003-1005)aaT>aaC	p.N335N	LAMB4_ENST00000414450.2_Silent_p.N335N|LAMB4_ENST00000418464.1_Silent_p.N335N|LAMB4_ENST00000388780.3_Silent_p.N335N|LAMB4_ENST00000205386.4_Silent_p.N335N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	335	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGAGTGGCTATTACAGCTGC	0.612													G|||	1517	0.302915	0.2322	0.3674	5008	,	,		15081	0.2639		0.3777	False		,,,				2504	0.316				p.N335N		Atlas-SNP	.											.	LAMB4	253	.	0			c.T1005C						PASS	.	G		1148,3248		179,790,1229	23	18	20		1005	-0.6	0	7	dbSNP_80	20	3349,5225		712,1925,1650	no	coding-synonymous	LAMB4	NM_007356.2		891,2715,2879	GG,GA,AA		39.0599,26.1146,34.6723		335/1762	107743664	4497,8473	2198	4287	6485	SO:0001819	synonymous_variant	22798	exon10			GTGGCTATTACAG	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1005T>C	7.37:g.107743664A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	37	24	0.648649	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			A|0.701;G|0.299	0.299	strong		0.612	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		G	107743664	A	G	107743664	2	3	22	1	0	0	0	0	0	0	0	1	8613	446	16	2		2	LAMB4	7	107743664	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4716	107743664	51394999	4419	9527										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107745029	107745029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctctcacagttcggaccAtctgtattgtgctgacacac	7	13	3	1	rs2074748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107745029A>G	ENST00000388781.3	-	9	989	c.906T>C	c.(904-906)gaT>gaC	p.D302D	LAMB4_ENST00000418464.1_Silent_p.D302D|LAMB4_ENST00000388780.3_Silent_p.D302D|LAMB4_ENST00000414450.2_Silent_p.D302D|LAMB4_ENST00000205386.4_Silent_p.D302D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	302	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTCGGACCATCTGTATTGT	0.512													A|||	376	0.0750799	0.093	0.0375	5008	,	,		17505	0.1369		0.0129	False		,,,				2504	0.0777				p.D302D		Atlas-SNP	.											.	LAMB4	253	.	0			c.T906C						PASS	.	A		329,4077	174.1+/-203.8	11,307,1885	243	216	225		906	-5.1	0.7	7	dbSNP_96	225	114,8486	60.2+/-122.0	1,112,4187	no	coding-synonymous	LAMB4	NM_007356.2		12,419,6072	GG,GA,AA		1.3256,7.4671,3.4061		302/1762	107745029	443,12563	2203	4300	6503	SO:0001819	synonymous_variant	22798	exon9			CGGACCATCTGTA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.906T>C	7.37:g.107745029A>G		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	123	56	0.455285	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			A|0.944;G|0.056	0.056	strong		0.512	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		G	107745029	A	G	107745029	2	3	22	1	0	0	0	0	0	0	0	1	8613	214	8	2		2	LAMB4	7	107745029	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1365	107745029	51393634	4420	9528										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107746313	107746313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttctgcatagggcgacaTtcgctagcatggccattgca	10	11	2	0	rs35265257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107746313T>C	ENST00000388781.3	-	8	902	c.819A>G	c.(817-819)gaA>gaG	p.E273E	LAMB4_ENST00000418464.1_Silent_p.E273E|LAMB4_ENST00000388780.3_Silent_p.E273E|LAMB4_ENST00000414450.2_Silent_p.E273E|LAMB4_ENST00000205386.4_Silent_p.E273E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	273	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAGGGCGACATTCGCTAGCAT	0.473													T|||	101	0.0201677	0.0734	0.0058	5008	,	,		19580	0.0		0.0	False		,,,				2504	0.0				p.E273E		Atlas-SNP	.											LAMB4,right_upper_lobe,carcinoma,-1,1	LAMB4	253	1	0			c.A819G						PASS	.	T		261,4145	149.5+/-183.7	8,245,1950	120	105	110		819	0.9	0.2	7	dbSNP_126	110	5,8595	5.0+/-18.6	0,5,4295	no	coding-synonymous	LAMB4	NM_007356.2		8,250,6245	CC,CT,TT		0.0581,5.9237,2.0452		273/1762	107746313	266,12740	2203	4300	6503	SO:0001819	synonymous_variant	22798	exon8			GCGACATTCGCTA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.819A>G	7.37:g.107746313T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	161	80	0.496894	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			T|0.982;C|0.018	0.018	strong		0.473	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		C	107746313	T	C	107746313	2	2	22	1	0	0	0	0	0	0	0	1	8613	1490	52	2		2	LAMB4	7	107746313	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1284	107746313	51392350	4421	9529										
LAMB4	22798	hgsc.bcm.edu	37	chr7	107756510	107756510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccacaggtagaagaagccAtaagctgcgtgttcctgccc	11	13	0	2	rs35644375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107756510A>G	ENST00000388781.3	-	3	214	c.131T>C	c.(130-132)aTg>aCg	p.M44T	LAMB4_ENST00000418464.1_Missense_Mutation_p.M44T|LAMB4_ENST00000388780.3_Missense_Mutation_p.M44T|LAMB4_ENST00000414450.2_Missense_Mutation_p.M44T|LAMB4_ENST00000205386.4_Missense_Mutation_p.M44T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	44	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		M -> T (in dbSNP:rs35644375).		cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAAGAAGCCATAAGCTGCGT	0.512													G|||	503	0.100439	0.3631	0.0317	5008	,	,		19458	0.0		0.001	False		,,,				2504	0.0				p.M44T		Atlas-SNP	.											.	LAMB4	253	.	0			c.T131C						PASS	.	G	THR/MET	1279,3127	700.8+/-406.7	186,907,1110	105	106	106		131	2.8	0	7	dbSNP_126	106	32,8568	817.9+/-406.9	0,32,4268	yes	missense	LAMB4	NM_007356.2	81	186,939,5378	GG,GA,AA		0.3721,29.0286,10.08	benign	44/1762	107756510	1311,11695	2203	4300	6503	SO:0001583	missense	22798	exon3			GAAGCCATAAGCT	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.131T>C	7.37:g.107756510A>G	ENSP00000373433:p.Met44Thr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	101	41	0.405941	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	190	0.08699633699633699	177	0.3597560975609756	13	0.03591160220994475	0	0.0	0	0.0	G	0.019	-1.450644	0.01080	0.290286	0.003721	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.6	2.81	0.32909	Laminin, N-terminal (3);	0.560407	0.16178	N	0.225961	T	0.00012	0.0000	N	0.00099	-2.14	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.26849	-1.0091	9	0.06625	T	0.88	.	6.7977	0.23734	0.2544:0.0:0.6319:0.1136	rs35644375;rs60836843	44	A4D0S4	LAMB4_HUMAN	T	44	ENSP00000205386:M44T;ENSP00000373433:M44T;ENSP00000373432:M44T;ENSP00000402353:M44T;ENSP00000402265:M44T	ENSP00000205386:M44T	M	-	2	0	LAMB4	107543746	0.000000	0.05858	0.003000	0.11579	0.082000	0.17680	0.434000	0.21494	0.049000	0.15920	-0.735000	0.03563	ATG	A|0.908;G|0.092	0.092	strong		0.512	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		G	107756510	A	G	107756510	3	3	22	1	0	0	0	0	1	0	0	0	8613	217	8	2	5282	2	LAMB4	7	107756510	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10197	107756510	51382153	4422	9530										
NRCAM	4897	hgsc.bcm.edu	37	chr7	107790417	107790417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctttcgtttccttcagCcggctctttctctttcttac	6	13	4	1	rs74708699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:107790417C>T	ENST00000425651.2	-	30	3852	c.3853G>A	c.(3853-3855)Gct>Act	p.A1285T	NRCAM_ENST00000351718.4_Missense_Mutation_p.A1164T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1173T|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1161T|NRCAM_ENST00000379028.3_Missense_Mutation_p.A1285T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1285					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTCCTTCAGCCGGCTCTTTC	0.428													C|||	36	0.0071885	0.0272	0.0	5008	,	,		15356	0.0		0.0	False		,,,				2504	0.0				p.A1285T		Atlas-SNP	.											.	NRCAM	267	.	0			c.G3853A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	115,4291	87.8+/-126.4	0,115,2088	161	150	154		3853,3574,3517,3481,3490	5.3	0.5	7	dbSNP_131	154	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense,missense,missense	NRCAM	NM_001037132.2,NM_001193582.1,NM_001193583.1,NM_001193584.1,NM_005010.4	58,58,58,58,58	0,118,6385	TT,TC,CC		0.0349,2.6101,0.9073	benign,benign,benign,benign,benign	1285/1305,1192/1212,1173/1193,1161/1181,1164/1184	107790417	118,12888	2203	4300	6503	SO:0001583	missense	4897	exon30			CTTCAGCCGGCTC		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3853G>A	7.37:g.107790417C>T	ENSP00000401244:p.Ala1285Thr	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	175	93	0.531429	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	12.19	1.863087	0.32884	0.026101	3.49E-4	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	T;T;T;T;T	0.58940	0.34;0.57;0.3;0.35;0.34	6.17	5.3	0.74995	.	0.344041	0.33290	N	0.005080	T	0.15912	0.0383	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;P	0.47106	0.01;0.001;0.144;0.021;0.036;0.001;0.89	B;B;B;B;B;B;B	0.37833	0.021;0.002;0.17;0.011;0.016;0.004;0.259	T	0.09228	-1.0684	10	0.13108	T	0.6	.	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	1289;131;1161;1173;1164;1285;68	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.;.;.;.;.;NRCAM_HUMAN;.	T	1289;1285;1161;129;1164;1173;1285	ENSP00000368314:A1285T;ENSP00000407858:A1161T;ENSP00000325269:A1164T;ENSP00000368310:A1173T;ENSP00000401244:A1285T	ENSP00000325269:A1164T	A	-	1	0	NRCAM	107577653	1.000000	0.71417	0.514000	0.27761	0.983000	0.72400	5.115000	0.64655	1.630000	0.50440	0.655000	0.94253	GCT	C|0.990;T|0.010	0.010	strong		0.428	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107790417	C	T	107790417	3	4	22	1	0	0	0	0	1	0	0	0	10644	739	26	2	65	2	NRCAM	7	107790417	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33907	107790417	51348246	4423	9531										
DNAJB9	4189	hgsc.bcm.edu	37	chr7	108213545	108213545	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagcgttttgaaaatcaTttccagacacgccaggatgg	10	8	1	3	rs376971670		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:108213545T>C	ENST00000249356.3	+	3	966	c.420T>C	c.(418-420)caT>caC	p.H140H	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTGAAAATCATTTCCAGACAC	0.363																																					p.H140H		Atlas-SNP	.											DNAJB9,NS,carcinoma,+1,1	DNAJB9	25	1	0			c.T420C						PASS	.	T		2,4404	4.2+/-10.8	0,2,2201	110	109	109		420	0.7	1	7		109	0,8600		0,0,4300	no	coding-synonymous	DNAJB9	NM_012328.2		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		140/224	108213545	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4189	exon3			AAATCATTTCCAG	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.420T>C	7.37:g.108213545T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	176	83	0.471591	NM_012328		Silent	SNP	ENST00000249356.3	37	CCDS5752.1																																																																																			.	.	weak		0.363	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			C	108213545	T	C	108213545	2	2	22	1	0	0	0	0	0	0	0	1	4627	1490	52	2		2	DNAJB9	7	108213545	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	423128	108213545	50925118	4424	9532										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110763563	110763563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagcatctctttttacgaTaacaggcttattaaagtacc	6	8	1	0	rs214865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:110763563T>C	ENST00000422987.3	+	2	1566	c.735T>C	c.(733-735)gaT>gaC	p.D245D	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Silent_p.D245D|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.D245D|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	245					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTTTTTACGATAACAGGCTTA	0.358													C|||	472	0.0942492	0.3011	0.0418	5008	,	,		18738	0.002		0.0298	False		,,,				2504	0.0133				p.D245D		Atlas-SNP	.											.	LRRN3	132	.	0			c.T735C						PASS	.	C	,,,	1203,3203	693.7+/-405.7	159,885,1159	55	59	57		735,735,735,	3.2	1	7	dbSNP_79	57	236,8360	793.0+/-407.5	3,230,4065	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	LRRN3,IMMP2L	NM_001099658.1,NM_001099660.1,NM_018334.4,NM_032549.3	,,,	162,1115,5224	CC,CT,TT		2.7455,27.3037,11.0675	,,,	245/709,245/709,245/709,	110763563	1439,11563	2203	4298	6501	SO:0001819	synonymous_variant	54674	exon2			TTACGATAACAGG	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.735T>C	7.37:g.110763563T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	144	75	0.520833	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			T|0.892;C|0.108	0.108	strong		0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110763563	T	C	110763563	2	2	22	1	0	0	0	0	0	0	0	1	9036	1403	49	2		2	LRRN3	7	110763563	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2550018	110763563	48375100	4425	9533										
DOCK4	9732	hgsc.bcm.edu	37	chr7	111400275	111400275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatggtctcatcgggctggTtggcgtgctgcatggcgatg	17	8	1	1	rs374962931		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:111400275T>C	ENST00000437633.1	-	39	4353	c.4097A>G	c.(4096-4098)aAc>aGc	p.N1366S	DOCK4_ENST00000494651.2_Missense_Mutation_p.N249S|DOCK4_ENST00000428084.1_Missense_Mutation_p.N1375S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1366	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCGGGCTGGTTGGCGTGCTG	0.552																																					p.N1366S		Atlas-SNP	.											.	DOCK4	365	.	0			c.A4097G						PASS	.	T	SER/ASN	2,4310		0,2,2154	184	186	185		4097	4.6	1	7		185	0,8506		0,0,4253	no	missense	DOCK4	NM_014705.3	46	0,2,6407	CC,CT,TT		0.0,0.0464,0.0156	benign	1366/1967	111400275	2,12816	2156	4253	6409	SO:0001583	missense	9732	exon39			GGCTGGTTGGCGT		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4097A>G	7.37:g.111400275T>C	ENSP00000404179:p.Asn1366Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	139	63	0.453237	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.83|11.83	1.755933|1.755933	0.31137|0.31137	4.64E-4|4.64E-4	0.0|0.0	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.05996|.	4.12;3.36;4.12|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.29908|0.29908	0.895|0.895	0.49798|0.49798	D|D	0.999821|0.999821	B;B;B;B;B|.	0.28998|.	0.112;0.178;0.22;0.23;0.178|.	B;B;B;B;B|.	0.30716|.	0.023;0.051;0.119;0.119;0.084|.	T|T	0.50931|0.50931	-0.8769|-0.8769	10|5	0.02654|.	T|.	1|.	.|.	14.4645|14.4645	0.67475|0.67475	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	273;249;1411;1366;1375|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	S|A	1354;1375;249;1366;1363|827;1399	ENSP00000410746:N1375S;ENSP00000440944:N249S;ENSP00000404179:N1366S|.	ENSP00000345432:N1363S|.	N|T	-|-	2|1	0|0	DOCK4|DOCK4	111187511|111187511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.086000|6.086000	0.71352|0.71352	2.066000|2.066000	0.61787|0.61787	0.482000|0.482000	0.46254|0.46254	AAC|ACC	.	.	weak		0.552	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111400275	T	C	111400275	3	2	22	1	0	0	0	0	1	0	0	0	4689	1725	60	2	1859	2	DOCK4	7	111400275	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	636712	111400275	47738388	4426	9534										
DOCK4	9732	hgsc.bcm.edu	37	chr7	111462465	111462465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcctttggaaacatctcCgggcgtatcaatattcggaa	9	10	2	0	rs17158877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:111462465C>T	ENST00000437633.1	-	27	3139	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	DOCK4_ENST00000428084.1_Silent_p.P961P|DOCK4-AS1_ENST00000452714.1_RNA	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	961					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.P949P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAAACATCTCCGGGCGTATCA	0.378													T|||	610	0.121805	0.3956	0.0202	5008	,	,		19490	0.0228		0.003	False		,,,				2504	0.0481				p.P961P		Atlas-SNP	.											DOCK4,NS,carcinoma,0,1	DOCK4	365	1	1	Substitution - coding silent(1)	stomach(1)	c.G2883A						PASS	.	T		1214,2484		212,790,847	84	76	79		2883	-8.8	0.8	7	dbSNP_123	79	32,8146		0,32,4057	no	coding-synonymous	DOCK4	NM_014705.3		212,822,4904	TT,TC,CC		0.3913,32.8286,10.4917		961/1967	111462465	1246,10630	1849	4089	5938	SO:0001819	synonymous_variant	9732	exon27			CATCTCCGGGCGT		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2883G>A	7.37:g.111462465C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	73	34	0.465753	NM_014705	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	224	0.10256410256410256	201	0.40853658536585363	9	0.024861878453038673	12	0.02097902097902098	2	0.002638522427440633	T	10.46	1.356288	0.24598	0.328286	0.003913	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.57	-8.83	0.00806	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999986311	.	.	.	.	.	.	T	0.38929	-0.9638	3	.	.	.	.	4.4577	0.11650	0.1383:0.4592:0.1551:0.2474	rs17158877;rs17158877	.	.	.	Q	413;985	.	.	R	-	2	0	DOCK4	111249701	0.008000	0.16893	0.758000	0.31321	0.996000	0.88848	-1.339000	0.02652	-1.590000	0.01623	-0.269000	0.10298	CGG	C|0.884;T|0.116	0.116	strong		0.378	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111462465	C	T	111462465	2	4	22	1	0	0	0	0	0	0	0	1	4689	639	23	1		1	DOCK4	7	111462465	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62190	111462465	47676198	4427	9535										
DOCK4	9732	hgsc.bcm.edu	37	chr7	111512589	111512589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtgatcttgtctgggtgGgttctccatttcaaaagatc	10	9	4	2	rs10257550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:111512589G>A	ENST00000437633.1	-	18	2032	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.T592T	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	592					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTCTGGGTGGGTTCTCCATT	0.358													G|||	371	0.0740815	0.1112	0.049	5008	,	,		18816	0.005		0.0666	False		,,,				2504	0.1207				p.T592T		Atlas-SNP	.											.	DOCK4	365	.	0			c.C1776T						PASS	.	G		343,3311		19,305,1503	63	57	59		1776	1.8	1	7	dbSNP_119	59	558,7610		21,516,3547	no	coding-synonymous	DOCK4	NM_014705.3		40,821,5050	AA,AG,GG		6.8315,9.387,7.6214		592/1967	111512589	901,10921	1827	4084	5911	SO:0001819	synonymous_variant	9732	exon18			TGGGTGGGTTCTC		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1776C>T	7.37:g.111512589G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_014705	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	116	0.05311355311355311	48	0.0975609756097561	20	0.055248618784530384	2	0.0034965034965034965	46	0.06068601583113457	G	8.267	0.812398	0.16537	0.09387	0.068315	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.57	1.78	0.24846	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.12811	-1.0533	3	.	.	.	.	6.3219	0.21223	0.2321:0.1354:0.6325:0.0	rs10257550;rs10257550	.	.	.	L	44;580	.	.	P	-	2	0	DOCK4	111299825	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.500000	0.22562	0.657000	0.30906	0.650000	0.86243	CCC	G|0.930;A|0.070	0.070	strong		0.358	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		A	111512589	G	A	111512589	2	1	22	1	0	0	0	0	0	0	0	1	4689	1219	43	2		2	DOCK4	7	111512589	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50124	111512589	47626074	4428	9536										
GPR85	54329	hgsc.bcm.edu	37	chr7	112724147	112724147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttcatttttcttcgatcGtggacgaaaaatatcagctt	8	8	3	0	rs28392728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:112724147G>A	ENST00000297146.3	-	3	1233	c.630C>T	c.(628-630)caC>caT	p.H210H	GPR85_ENST00000449591.1_Silent_p.H210H|GPR85_ENST00000501255.2_Silent_p.H210H|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_Silent_p.H210H	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	210					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTCTTCGATCGTGGACGAAAA	0.498													G|||	97	0.019369	0.0703	0.0058	5008	,	,		19678	0.0		0.0	False		,,,				2504	0.0				p.H210H		Atlas-SNP	.											.	GPR85	49	.	0			c.C630T						PASS	.	G	,,,	296,4110	162.2+/-194.2	11,274,1918	56	55	55		630,630,630,630	-1.6	0.9	7	dbSNP_125	55	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPR85	NM_001146265.1,NM_001146266.1,NM_001146267.1,NM_018970.6	,,,	11,277,6215	AA,AG,GG		0.0349,6.7181,2.2989	,,,	210/371,210/371,210/371,210/371	112724147	299,12707	2203	4300	6503	SO:0001819	synonymous_variant	54329	exon3			TCGATCGTGGACG	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.630C>T	7.37:g.112724147G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	94	39	0.414894	NM_001146265	Q9JHI6|Q9NPD1	Silent	SNP	ENST00000297146.3	37	CCDS5758.1																																																																																			G|0.978;A|0.022	0.022	strong		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			A	112724147	G	A	112724147	2	1	22	1	0	0	0	0	0	0	0	1	6715	1136	40	1		1	GPR85	7	112724147	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1211558	112724147	46414516	4429	9537										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113519267	113519267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggaaaagataatcattcCtcaaaacatttccagttctt	4	9	3	1	rs35067467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:113519267C>T	ENST00000284601.3	-	4	1948	c.1880G>A	c.(1879-1881)aGg>aAg	p.R627K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	627			R -> K (in dbSNP:rs35067467).		glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATAATCATTCCTCAAAACATT	0.393													C|||	187	0.0373403	0.1339	0.0115	5008	,	,		20272	0.0		0.002	False		,,,				2504	0.0				p.R627K		Atlas-SNP	.											.	PPP1R3A	317	.	0			c.G1880A						PASS	.	C	LYS/ARG	455,3951	213.5+/-233.1	22,411,1770	83	81	82		1880	-3.9	0	7	dbSNP_126	82	9,8591	6.4+/-24.3	0,9,4291	yes	missense	PPP1R3A	NM_002711.3	26	22,420,6061	TT,TC,CC		0.1047,10.3268,3.5676	benign	627/1123	113519267	464,12542	2203	4300	6503	SO:0001583	missense	5506	exon4			TCATTCCTCAAAA	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1880G>A	7.37:g.113519267C>T	ENSP00000284601:p.Arg627Lys	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	238	121	0.508403	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	68	0.031135531135531136	61	0.12398373983739837	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	C	0.023	-1.404787	0.01155	0.103268	0.001047	ENSG00000154415	ENST00000284601	T	0.15256	2.44	6.02	-3.93	0.04143	.	1.218990	0.05550	N	0.567306	T	0.00178	0.0005	L	0.31294	0.92	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39881	-0.9592	9	0.15499	T	0.54	-0.3547	9.053	0.36387	0.0:0.3009:0.11:0.5891	rs35067467	627	Q16821	PPR3A_HUMAN	K	627	ENSP00000284601:R627K	ENSP00000284601:R627K	R	-	2	0	PPP1R3A	113306503	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.502000	0.06390	-0.652000	0.05408	-1.106000	0.02097	AGG	C|0.959;T|0.041	0.041	strong		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113519267	C	T	113519267	3	4	22	1	0	0	0	0	1	0	0	0	12371	681	24	2	1492	2	PPP1R3A	7	113519267	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	795120	113519267	45619396	4430	9538										
MET	4233	hgsc.bcm.edu	37	chr7	116340269	116340269	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgacttcttcaacaagatCgtcaacaaaaacaatgtgag	6	9	3	2	rs28444388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:116340269C>T	ENST00000318493.6	+	2	1318	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	MET_ENST00000397752.3_Silent_p.I377I|MET_ENST00000436117.2_Silent_p.I377I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAACAAGATCGTCAACAAAA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				C|||	311	0.0621006	0.2262	0.013	5008	,	,		19263	0.0		0.002	False		,,,				2504	0.001				p.I377I		Atlas-SNP	.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	MET	412	.	0			c.C1131T						PASS	.	C	,	744,3114		78,588,1263	105	97	100		1131,1131	-7.2	0.7	7	dbSNP_125	100	9,8271		0,9,4131	no	coding-synonymous,coding-synonymous	MET	NM_000245.2,NM_001127500.1	,	78,597,5394	TT,TC,CC		0.1087,19.2846,6.2037	,	377/1391,377/1409	116340269	753,11385	1929	4140	6069	SO:0001819	synonymous_variant	4233	exon2	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	CAAGATCGTCAAC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1131C>T	7.37:g.116340269C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	17	0.404762	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																			C|0.967;T|0.033	0.033	strong		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116340269	C	T	116340269	2	4	22	1	0	0	0	0	0	0	0	1	9485	874	31	1		1	MET	7	116340269	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2821002	116340269	42798394	4431	9539										
CFTR	1080	hgsc.bcm.edu	37	chr7	117199533	117199533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagacttcacttctaatgGtgattatgggagaactggag	11	7	2	3	rs213950|rs397508204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:117199533G>A	ENST00000003084.6	+	11	1540	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	AC000111.3_ENST00000441019.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.V409M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	470	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> M (in dbSNP:rs213950). {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:1710598, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:2475911, ECO:0000269|Ref.3}.		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACTTCTAATGGTGATTATGGG	0.393									Cystic Fibrosis				A|||	2915	0.582069	0.9349	0.513	5008	,	,		17643	0.3869		0.4384	False		,,,				2504	0.5031				p.V470M		Atlas-SNP	.											.	CFTR	171	.	0			c.G1408A	GRCh37	CM034388	CFTR	M	rs213950	PASS	.	A	MET/VAL	3747,659		1586,575,42	102	111	108	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1408	3	1	7	dbSNP_79	108	4026,4574		1025,1976,1299	yes	missense	CFTR	NM_000492.3	21	2611,2551,1341	AA,AG,GG		46.814,14.9569,40.2353	benign	470/1481	117199533	7773,5233	2203	4300	6503	SO:0001583	missense	1080	exon11	Familial Cancer Database	CF	CTAATGGTGATTA	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1408G>A	7.37:g.117199533G>A	ENSP00000003084:p.Val470Met	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	39	39	1	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	1180	0.5402930402930403	449	0.9126016260162602	192	0.5303867403314917	202	0.3531468531468531	337	0.4445910290237467	A	2.095	-0.407418	0.04832	0.850431	0.46814	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94280	-3.39;-3.39;-3.39	5.47	3.05	0.35203	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.113641	0.85682	N	0.000000	T	0.00012	0.0000	N	0.11341	0.13	0.46279	P	0.0010339999999999794	B	0.02656	0.0	B	0.06405	0.002	T	0.42032	-0.9475	9	0.16420	T	0.52	-17.102	2.8388	0.05523	0.5314:0.1098:0.0703:0.2886	rs213950;rs10360044;rs34570734;rs52833540;rs57055567;rs213950	470	P13569	CFTR_HUMAN	M	470;409;440	ENSP00000003084:V470M;ENSP00000403677:V409M;ENSP00000389119:V440M	ENSP00000003084:V470M	V	+	1	0	CFTR	116986769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	0.103000	0.17682	-0.269000	0.10298	GTG	G|0.436;A|0.564	0.564	strong		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117199533	G	A	117199533	3	1	22	1	0	0	0	0	1	0	0	0	3294	1261	44	2	1450	2	CFTR	7	117199533	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	859264	117199533	41939130	4432	9540										
CFTR	1080	hgsc.bcm.edu	37	chr7	117282644	117282644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcctttggagtgataccAcaggtgagcaaaaggactta	11	7	0	2	rs1800130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:117282644A>G	ENST00000003084.6	+	23	4002	c.3870A>G	c.(3868-3870)ccA>ccG	p.P1290P	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.P1229P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1290	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAGTGATACCACAGGTGAGCA	0.368									Cystic Fibrosis				G|||	343	0.0684904	0.177	0.0303	5008	,	,		18315	0.001		0.0398	False		,,,				2504	0.0481				p.P1290P		Atlas-SNP	.											.	CFTR	171	.	0			c.A3870G						PASS	.	G		665,3741	762.6+/-413.1	48,569,1586	83	78	80		3870	-4.3	1	7	dbSNP_89	80	255,8345	807.5+/-407.2	7,241,4052	no	coding-synonymous	CFTR	NM_000492.3		55,810,5638	GG,GA,AA		2.9651,15.0931,7.0737		1290/1481	117282644	920,12086	2203	4300	6503	SO:0001819	synonymous_variant	1080	exon23	Familial Cancer Database	CF	GATACCACAGGTG	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3870A>G	7.37:g.117282644A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	84	29	0.345238	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																			A|0.927;G|0.073	0.073	strong		0.368	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		G	117282644	A	G	117282644	2	3	22	1	0	0	0	0	0	0	0	1	3294	146	6	2		2	CFTR	7	117282644	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	83111	117282644	41856019	4433	9541										
CFTR	1080	hgsc.bcm.edu	37	chr7	117307108	117307108	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgcaagtctaagccccaGattgctgctctgaaagagga	11	9	2	3	rs1800136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:117307108G>A	ENST00000003084.6	+	27	4521	c.4389G>A	c.(4387-4389)caG>caA	p.Q1463Q	CFTR_ENST00000454343.1_Silent_p.Q1402Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1463					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTAAGCCCCAGATTGCTGCTC	0.512									Cystic Fibrosis				A|||	932	0.186102	0.2496	0.1513	5008	,	,		20100	0.0149		0.2525	False		,,,				2504	0.2331				p.Q1463Q		Atlas-SNP	.											.	CFTR	171	.	0			c.G4389A	GRCh37	CS042143	CFTR	S	rs1800136	PASS	.	A		1077,3329	721.4+/-409.2	126,825,1252	56	51	53		4389	-10.9	0	7	dbSNP_89	53	1861,6739	729.8+/-406.7	225,1411,2664	no	coding-synonymous	CFTR	NM_000492.3		351,2236,3916	AA,AG,GG		21.6395,24.4439,22.5896		1463/1481	117307108	2938,10068	2203	4300	6503	SO:0001819	synonymous_variant	1080	exon27	Familial Cancer Database	CF	GCCCCAGATTGCT	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4389G>A	7.37:g.117307108G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	188	84	0.446809	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																			G|0.790;A|0.210	0.210	strong		0.512	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117307108	G	A	117307108	2	1	22	1	0	0	0	0	0	0	0	1	3294	933	33	2		2	CFTR	7	117307108	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24464	117307108	41831555	4434	9542										
ING3	54556	hgsc.bcm.edu	37	chr7	120610847	120610849	+	In_Frame_Del	DEL	AAC	AAC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacaagaaatctctcaacaAacaactgtagtgccagaatc					rs539687500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:120610847_120610849delAAC	ENST00000315870.5	+	10	1162_1164	c.1014_1016delAAC	c.(1012-1017)caaaca>caa	p.T340del	ING3_ENST00000431467.1_In_Frame_Del_p.T325del	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	340					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)					TCTCTCAACAAACAACTGTAGTG	0.394														6	0.00119808	0.0045	0.0	5008	,	,		17162	0.0		0.0	False		,,,				2504	0.0				p.338_339del		Pindel,Atlas-Indel	.											.	ING3	36	.	0			c.1013_1015del						PASS	.																																			SO:0001651	inframe_deletion	54556	exon10			.	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.1014_1016delAAC	7.37:g.120610850_120610852delAAC	ENSP00000320566:p.Thr340del	Somatic	112	.	.		WXS	Illumina HiSeq	Phase_I	92	37	0.402	NM_019071	A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	In_Frame_Del	DEL	ENST00000315870.5	37	CCDS5778.1																																																																																			.	.	none		0.394	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		-	120610849	AAC	-	120610847	7	5	22	1	0	1	0	1	0	0	0	0	7737	11	1	0	1068	0	ING3	7	120610847	In_Frame_Del	DEL	AAC	TCGA-G8-6324-01A-11D-2210-10	3303739	120610847	38527816	4435	9543										
WNT16	51384	hgsc.bcm.edu	37	chr7	120969769	120969769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgggcattcaggagtgcGggagccagttcagacacgag	17	9	2	1	rs2908004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:120969769G>A	ENST00000222462.2	+	2	534	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	WNT16_ENST00000361301.2_Missense_Mutation_p.G72R	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	82			G -> R (in dbSNP:rs2908004). {ECO:0000269|PubMed:11095990}.		bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGGAGTGCGGGAGCCAGTT	0.642													A|||	2556	0.510383	0.9228	0.4092	5008	,	,		13422	0.1766		0.4433	False		,,,				2504	0.4376				p.G82R		Atlas-SNP	.											WNT16_ENST00000361301,brain,glioma,0,2	WNT16	97	2	0			c.G244A						scavenged	.	A	ARG/GLY,ARG/GLY	3692,714		1553,586,64	31	35	34		214,244	-0.8	0.9	7	dbSNP_101	34	3913,4687		907,2099,1294	yes	missense,missense	WNT16	NM_016087.2,NM_057168.1	125,125	2460,2685,1358	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	45.5,16.2052,41.527	benign,benign	72/356,82/366	120969769	7605,5401	2203	4300	6503	SO:0001583	missense	51384	exon2			GAGTGCGGGAGCC	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.244G>A	7.37:g.120969769G>A	ENSP00000222462:p.Gly82Arg	Somatic	54	1	0.0185185		WXS	Illumina HiSeq	Phase_I	48	25	0.520833	NM_057168	Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	CCDS5781.1	1048	0.47985347985347987	456	0.926829268292683	160	0.4419889502762431	101	0.17657342657342656	331	0.4366754617414248	A	12.58	1.980316	0.34942	0.837948	0.455	ENSG00000002745	ENST00000361301;ENST00000222462;ENST00000414945	T;T	0.74842	-0.88;-0.88	4.87	-0.765	0.11023	.	0.162937	0.48767	N	0.000179	T	0.00012	0.0000	N	0.00496	-1.435	0.54753	P	1.0999999999983245E-5	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	0.35671	T	0.21	.	12.1566	0.54081	0.3129:0.6182:0.0689:0.0	rs2908004;rs10364442;rs52797177;rs2908004	82;72	Q9UBV4;E9PH60	WNT16_HUMAN;.	R	72;82;23	ENSP00000355065:G72R;ENSP00000222462:G82R	ENSP00000222462:G82R	G	+	1	0	WNT16	120757005	0.413000	0.25400	0.879000	0.34478	0.855000	0.48748	1.051000	0.30417	-0.608000	0.05731	-1.126000	0.01995	GGG	G|0.462;A|0.538	0.538	strong		0.642	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		A	120969769	G	A	120969769	3	1	22	1	0	0	0	0	1	0	0	0	17382	1116	39	1	319	1	WNT16	7	120969769	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	358922	120969769	38168894	4436	9544										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121652964	121652964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtaccttctttgtacagTaatgatgagttgttccaaac	9	7	1	2	rs139671030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:121652964T>C	ENST00000393386.2	+	12	4275	c.3864T>C	c.(3862-3864)agT>agC	p.S1288S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1288					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTGTACAGTAATGATGAGT	0.398													T|||	22	0.00439297	0.0166	0.0	5008	,	,		20087	0.0		0.0	False		,,,				2504	0.0				p.S1288S		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.T3864C						PASS	.	T	,,	46,4360	45.3+/-79.5	0,46,2157	74	69	70		,,3864	-1.6	0	7	dbSNP_134	70	0,8600		0,0,4300	yes	intron,intron,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,46,6457	CC,CT,TT		0.0,1.044,0.3537	,,	,,1288/2316	121652964	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	5803	exon12			GTACAGTAATGAT	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3864T>C	7.37:g.121652964T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																			T|0.997;C|0.003	0.003	strong		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121652964	T	C	121652964	2	2	22	1	0	0	0	0	0	0	0	1	12814	1635	57	2		2	PTPRZ1	7	121652964	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	683195	121652964	37485699	4437	9545										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121653375	121653377	+	In_Frame_Del	DEL	TGA	TGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgacactgatgatgatggTgatgatgatgatgatgacag					rs80103123|rs35947407|rs398111797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:121653375_121653377delTGA	ENST00000393386.2	+	12	4686_4688	c.4275_4277delTGA	c.(4273-4278)ggtgat>ggt	p.D1431del	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1431					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1425G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						atgatgatggtgatgatgatgat	0.424														2357	0.470647	0.559	0.464	5008	,	,		22105	0.3542		0.3708	False		,,,				2504	0.5787				p.1425_1426del		Pindel	.											PTPRZ1,leg,malignant_melanoma,-1,1	PTPRZ1	605	1	1	Substitution - coding silent(1)	skin(1)	c.4274_4276del						PASS	.																																			SO:0001651	inframe_deletion	5803	exon12			.	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4275_4277delTGA	7.37:g.121653384_121653386delTGA	ENSP00000377047:p.Asp1431del	Somatic	124	.	.		WXS	Illumina HiSeq	Phase_I	141	39	0.277	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	In_Frame_Del	DEL	ENST00000393386.2	37	CCDS34740.1																																																																																			TGA|0.585;-|0.415	0.415	strong		0.424	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		-	121653377	TGA	-	121653375	7	5	22	1	0	1	0	1	0	0	0	0	12814	1683	59	0	4321	0	PTPRZ1	7	121653375	In_Frame_Del	DEL	TGA	TCGA-G8-6324-01A-11D-2210-10	411	121653375	37485288	4438	9546										
TAS2R16	50833	hgsc.bcm.edu	37	chr7	122634843	122634843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctttagaatccttttcaaCgtagggctgctcagcatcag	8	12	3	1	rs1204014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:122634843C>T	ENST00000249284.2	-	1	911	c.846G>A	c.(844-846)acG>acA	p.T282T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCTTTTCAACGTAGGGCTGC	0.423													T|||	501	0.10004	0.323	0.0432	5008	,	,		21099	0.0		0.0378	False		,,,				2504	0.0061				p.T282T		Atlas-SNP	.											TAS2R16,right_lower_lobe,carcinoma,-1,2	TAS2R16	57	2	0			c.G846A						PASS	.	T		1246,3160	700.8+/-406.7	171,904,1128	110	113	112		846	0.5	0	7	dbSNP_87	112	367,8233	800.7+/-407.4	11,345,3944	no	coding-synonymous	TAS2R16	NM_016945.2		182,1249,5072	TT,TC,CC		4.2674,28.2796,12.402		282/292	122634843	1613,11393	2203	4300	6503	SO:0001819	synonymous_variant	50833	exon1			TTTCAACGTAGGG	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.846G>A	7.37:g.122634843C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	112	46	0.410714	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	CCDS5785.1																																																																																			C|0.884;T|0.116	0.116	strong		0.423	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		T	122634843	C	T	122634843	2	4	22	1	0	0	0	0	0	0	0	1	15566	523	19	1		1	TAS2R16	7	122634843	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	981468	122634843	36503820	4439	9547										
TAS2R16	50833	hgsc.bcm.edu	37	chr7	122635386	122635386	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaccttgatgcagtagaaCacggtaagcaagctgtttaa					rs2692396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:122635386C>G	ENST00000249284.2	-	1	368	c.303G>C	c.(301-303)gtG>gtC	p.V101V		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	101					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCAGTAGAACACGGTAAGCA	0.378													G|||	442	0.0882588	0.3222	0.0216	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.001				p.V101V		Atlas-SNP	.											.	TAS2R16	57	.	0			c.G303C						PASS	.	G		1015,3391		167,681,1355	76	76	76		303	-2.8	0	7	dbSNP_100	76	6,8594		0,6,4294	no	coding-synonymous	TAS2R16	NM_016945.2		167,687,5649	GG,GC,CC		0.0698,23.0368,7.8502		101/292	122635386	1021,11985	2203	4300	6503	SO:0001819	synonymous_variant	50833	exon1			GTAGAACACGGTA	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.303G>C	7.37:g.122635386C>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	126	53	0.420635	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	CCDS5785.1																																																																																			C|0.916;G|0.084	0.084	strong		0.378	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		G	122635386	C	G	122635386	2	3	22	1	0	0	0	0	0	0	0	1	15566	465	17	4		4	TAS2R16	7	122635386	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	543	122635386	36503277	4440	9548	197	2								
TAS2R16	50833	hgsc.bcm.edu	37	chr7	122635389	122635389	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttgatgcagtagaacacGgtaagcaagctgtttaacca					rs2233988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:122635389G>A	ENST00000249284.2	-	1	365	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	100					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTAGAACACGGTAAGCAAGC	0.373													G|||	442	0.0882588	0.3222	0.0216	5008	,	,		20838	0.0		0.0	False		,,,				2504	0.001				p.T100T		Atlas-SNP	.											.	TAS2R16	57	.	0			c.C300T						PASS	.	G		1009,3397		167,675,1361	75	74	75		300	1.6	0.1	7	dbSNP_98	75	7,8593		0,7,4293	no	coding-synonymous	TAS2R16	NM_016945.2		167,682,5654	AA,AG,GG		0.0814,22.9006,7.8118		100/292	122635389	1016,11990	2203	4300	6503	SO:0001819	synonymous_variant	50833	exon1			GAACACGGTAAGC	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.300C>T	7.37:g.122635389G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	129	53	0.410853	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	CCDS5785.1																																																																																			G|0.917;A|0.083	0.083	strong		0.373	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		A	122635389	G	A	122635389	2	1	22	1	0	0	0	0	0	0	0	1	15566	1103	39	1		1	TAS2R16	7	122635389	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	122635389	36503274	4441	9549	197	2								
SLC13A1	6561	hgsc.bcm.edu	37	chr7	122787306	122787306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaggcaatgcacaaacacGtaagtttacgtgtcacgtgg	11	8	1	0	rs10231144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:122787306G>A	ENST00000194130.2	-	7	758	c.719C>T	c.(718-720)aCg>aTg	p.T240M	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	240			T -> M (in dbSNP:rs10231144).		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GCACAAACACGTAAGTTTACG	0.413													A|||	31	0.0061901	0.0227	0.0014	5008	,	,		20613	0.0		0.0	False		,,,				2504	0.0				p.T240M		Atlas-SNP	.											.	SLC13A1	110	.	0			c.C719T						PASS	.	A	MET/THR	92,4314	818.0+/-416.3	0,92,2111	236	180	199		719	5	1	7	dbSNP_119	199	1,8599		0,1,4299	yes	missense	SLC13A1	NM_022444.3	81	0,93,6410	AA,AG,GG		0.0116,2.0881,0.7151	benign	240/596	122787306	93,12913	2203	4300	6503	SO:0001583	missense	6561	exon7			AAACACGTAAGTT		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.719C>T	7.37:g.122787306G>A	ENSP00000194130:p.Thr240Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	136	79	0.580882	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	A	3.455	-0.111112	0.06881	0.020881	1.16E-4	ENSG00000081800	ENST00000194130	T	0.63913	-0.07	5.0	5.0	0.66597	.	0.085242	0.85682	N	0.000000	T	0.05914	0.0154	N	0.00030	-2.605	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04946	-1.0916	10	0.13108	T	0.6	.	9.0284	0.36243	0.9119:0.0:0.0881:0.0	rs10231144;rs52791983;rs57837984;rs10231144	240;240	A4D0X1;Q9BZW2	.;S13A1_HUMAN	M	240	ENSP00000194130:T240M	ENSP00000194130:T240M	T	-	2	0	SLC13A1	122574542	1.000000	0.71417	0.997000	0.53966	0.706000	0.40770	6.172000	0.71932	0.772000	0.33382	-0.360000	0.07572	ACG	G|0.989;A|0.011	0.011	strong		0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		A	122787306	G	A	122787306	3	1	22	1	0	0	0	0	1	0	0	0	14391	1145	40	1	1104	1	SLC13A1	7	122787306	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	151917	122787306	36351357	4442	9550										
IQUB	154865	hgsc.bcm.edu	37	chr7	123097468	123097468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttagcttgagatgagcagcTgcttcatctttggtaagaag	12	6	2	3	rs10234745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123097468T>C	ENST00000466202.1	-	12	2736	c.2160A>G	c.(2158-2160)gcA>gcG	p.A720A	RNU6-296P_ENST00000384608.1_RNA|IQUB_ENST00000324698.6_Silent_p.A720A|RP11-332K15.1_ENST00000419832.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.A720A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATGAGCAGCTGCTTCATCTT	0.403													C|||	1688	0.337061	0.3926	0.2781	5008	,	,		16262	0.3909		0.2972	False		,,,				2504	0.2894				p.A720A		Atlas-SNP	.											IQUB,colon,carcinoma,0,2	IQUB	117	2	1	Substitution - coding silent(1)	stomach(1)	c.A2160G						PASS	.	C		1779,2627	642.8+/-397.7	372,1035,796	98	102	100		2160	-11.7	0	7	dbSNP_119	100	2376,6224	700.4+/-405.1	324,1728,2248	no	coding-synonymous	IQUB	NM_178827.4		696,2763,3044	CC,CT,TT		27.6279,40.3768,31.9468		720/792	123097468	4155,8851	2203	4300	6503	SO:0001819	synonymous_variant	154865	exon12			AGCAGCTGCTTCA	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2160A>G	7.37:g.123097468T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																			T|0.682;C|0.318	0.318	strong		0.403	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		C	123097468	T	C	123097468	2	2	22	1	0	0	0	0	0	0	0	1	7820	1567	55	3		3	IQUB	7	123097468	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	310162	123097468	36041195	4443	9551										
IQUB	154865	hgsc.bcm.edu	37	chr7	123119990	123119990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcagctccagtaaaagaTtggttaatacgtgtaagttc	8	7	1	1	rs10500091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123119990T>C	ENST00000466202.1	-	8	1845	c.1269A>G	c.(1267-1269)caA>caG	p.Q423Q	IQUB_ENST00000434450.1_Silent_p.Q423Q|IQUB_ENST00000324698.6_Silent_p.Q423Q	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	423					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CAGTAAAAGATTGGTTAATAC	0.378													T|||	1128	0.22524	0.0507	0.2478	5008	,	,		17942	0.3879		0.2853	False		,,,				2504	0.2157				p.Q423Q		Atlas-SNP	.											.	IQUB	117	.	0			c.A1269G						PASS	.	T		445,3961	212.5+/-232.4	22,401,1780	108	98	101		1269	-10.5	0.1	7	dbSNP_119	101	2325,6273	390.1+/-343.2	306,1713,2280	no	coding-synonymous	IQUB	NM_178827.4		328,2114,4060	CC,CT,TT		27.0412,10.0999,21.3011		423/792	123119990	2770,10234	2203	4299	6502	SO:0001819	synonymous_variant	154865	exon8			AAAAGATTGGTTA	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1269A>G	7.37:g.123119990T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	165	85	0.515152	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																			T|0.782;C|0.218	0.218	strong		0.378	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		C	123119990	T	C	123119990	2	2	22	1	0	0	0	0	0	0	0	1	7820	1490	52	2		2	IQUB	7	123119990	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22522	123119990	36018673	4444	9552										
IQUB	154865	hgsc.bcm.edu	37	chr7	123152019	123152019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgctagagaatcttccaCtgattcttgcaaagattcct	7	9	2	3	rs10255061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123152019C>T	ENST00000466202.1	-	2	952	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	IQUB_ENST00000434450.1_Missense_Mutation_p.V126M|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V126M	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	126			V -> M (in dbSNP:rs10255061). {ECO:0000269|PubMed:15489334}.		cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.V126M(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GAATCTTCCACTGATTCTTGC	0.353													T|||	1342	0.267971	0.2194	0.2637	5008	,	,		19187	0.369		0.2863	False		,,,				2504	0.2137				p.V126M		Atlas-SNP	.											IQUB,NS,adenoma,0,2	IQUB	117	2	1	Substitution - Missense(1)	stomach(1)	c.G376A						PASS	.	T	MET/VAL	1048,3356	723.4+/-409.4	131,786,1285	64	64	64		376	-4.5	0	7	dbSNP_119	64	2296,6304	703.7+/-405.4	298,1700,2302	yes	missense	IQUB	NM_178827.4	21	429,2486,3587	TT,TC,CC		26.6977,23.7965,25.7152	benign	126/792	123152019	3344,9660	2202	4300	6502	SO:0001583	missense	154865	exon2			CTTCCACTGATTC	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.376G>A	7.37:g.123152019C>T	ENSP00000417769:p.Val126Met	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	634	0.2902930402930403	104	0.21138211382113822	109	0.3011049723756906	202	0.3531468531468531	219	0.28891820580474936	T	7.972	0.749246	0.15710	0.237965	0.266977	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.42513	0.97;0.97;0.97	5.41	-4.47	0.03525	.	1.448530	0.04416	N	0.366878	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.33752	-0.9856	9	0.14252	T	0.57	.	11.0952	0.48141	0.1213:0.676:0.0:0.2027	rs10255061;rs56649278;rs59485939;rs10255061	126;126;126	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	M	126	ENSP00000417769:V126M;ENSP00000324882:V126M;ENSP00000388498:V126M	ENSP00000324882:V126M	V	-	1	0	IQUB	122939255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.742000	0.01835	-1.087000	0.03081	-0.254000	0.11334	GTG	C|0.741;T|0.259	0.259	strong		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		T	123152019	C	T	123152019	3	4	22	1	0	0	0	0	1	0	0	0	7820	565	20	2	2047	2	IQUB	7	123152019	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32029	123152019	35986644	4445	9553										
ASB15	142685	hgsc.bcm.edu	37	chr7	123267200	123267200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggcggatgatggggcgtCggtgctgtttgaggcagcag	19	6	0	2	rs73718440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123267200C>T	ENST00000451558.1	+	11	1255	c.734C>T	c.(733-735)tCg>tTg	p.S245L	RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.S245L|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.S245L|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.S245L|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.S245L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	245					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGGGGCGTCGGTGCTGTTT	0.488													C|||	39	0.00778754	0.0295	0.0	5008	,	,		17121	0.0		0.0	False		,,,				2504	0.0				p.S245L		Atlas-SNP	.											.	ASB15	94	.	0			c.C734T						PASS	.	C	LEU/SER	96,4310	78.8+/-117.2	0,96,2107	178	141	153		734	5.6	0.8	7	dbSNP_130	153	1,8599		0,1,4299	yes	missense	ASB15	NM_080928.3	145	0,97,6406	TT,TC,CC		0.0116,2.1788,0.7458	probably-damaging	245/589	123267200	97,12909	2203	4300	6503	SO:0001583	missense	142685	exon7			GGGCGTCGGTGCT	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.734C>T	7.37:g.123267200C>T	ENSP00000397655:p.Ser245Leu	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	315	149	0.473016	NM_080928	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	C	19.14	3.770300	0.69992	0.021788	1.16E-4	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.57	5.57	0.84162	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000022	T	0.16557	0.0398	L	0.48642	1.525	0.46317	D	0.99898	D	0.89917	1.0	D	0.81914	0.995	T	0.00964	-1.1498	10	0.87932	D	0	-24.7501	19.5537	0.95331	0.0:1.0:0.0:0.0	.	245	Q8WXK1	ASB15_HUMAN	L	245;245;245;245;34;245	ENSP00000397655:S245L;ENSP00000390963:S245L;ENSP00000416433:S245L;ENSP00000438643:S245L;ENSP00000275699:S245L	ENSP00000275699:S245L	S	+	2	0	ASB15	123054436	0.989000	0.36119	0.802000	0.32245	0.453000	0.32348	3.285000	0.51716	2.614000	0.88457	0.557000	0.71058	TCG	C|0.993;T|0.007	0.007	strong		0.488	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			T	123267200	C	T	123267200	3	4	22	1	0	0	0	0	1	0	0	0	1019	893	31	1	756	1	ASB15	7	123267200	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	115181	123267200	35871463	4446	9554										
ASB15	142685	hgsc.bcm.edu	37	chr7	123269280	123269280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatgtcaattgttattttaTgcatgtgaatgacactcgtt	7	5	1	2	rs73718442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123269280T>C	ENST00000451558.1	+	12	1753	c.1232T>C	c.(1231-1233)aTg>aCg	p.M411T	ASB15_ENST00000451215.1_Missense_Mutation_p.M411T|ASB15_ENST00000434204.1_Missense_Mutation_p.M411T|ASB15_ENST00000275699.3_Missense_Mutation_p.M411T|ASB15_ENST00000540573.1_Missense_Mutation_p.M411T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	411					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGTTATTTTATGCATGTGAAT	0.418													T|||	42	0.00838658	0.0303	0.0	5008	,	,		21984	0.001		0.001	False		,,,				2504	0.0				p.M411T		Atlas-SNP	.											.	ASB15	94	.	0			c.T1232C						PASS	.	T	THR/MET	102,4304	81.9+/-120.4	1,100,2102	151	134	140		1232	6.2	1	7	dbSNP_130	140	1,8599		0,1,4299	yes	missense	ASB15	NM_080928.3	81	1,101,6401	CC,CT,TT		0.0116,2.315,0.7919	benign	411/589	123269280	103,12903	2203	4300	6503	SO:0001583	missense	142685	exon8			ATTTTATGCATGT	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1232T>C	7.37:g.123269280T>C	ENSP00000397655:p.Met411Thr	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	129	66	0.511628	NM_080928	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	T	6.119	0.390139	0.11581	0.02315	1.16E-4	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	6.17	6.17	0.99709	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	L	0.43152	1.355	0.37857	D	0.929585	B	0.15473	0.013	B	0.09377	0.004	T	0.40739	-0.9547	10	0.06625	T	0.88	-21.3197	12.4321	0.55578	0.1256:0.0:0.0:0.8744	.	411	Q8WXK1	ASB15_HUMAN	T	411;411;411;411;200;411	ENSP00000397655:M411T;ENSP00000390963:M411T;ENSP00000416433:M411T;ENSP00000438643:M411T;ENSP00000275699:M411T	ENSP00000275699:M411T	M	+	2	0	ASB15	123056516	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.015000	0.29963	2.371000	0.80710	0.533000	0.62120	ATG	T|0.992;C|0.008	0.008	strong		0.418	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			C	123269280	T	C	123269280	3	2	22	1	0	0	0	0	1	0	0	0	1019	1464	51	2	1258	2	ASB15	7	123269280	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2080	123269280	35869383	4447	9555										
SPAM1	6677	hgsc.bcm.edu	37	chr7	123594206	123594206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaacaagaatttgaaaaGgcagggaaggatttcctggt	12	5	0	2	rs2285996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:123594206G>A	ENST00000439500.1	+	4	1195	c.582G>A	c.(580-582)aaG>aaA	p.K194K	SPAM1_ENST00000223028.7_Silent_p.K194K|SPAM1_ENST00000402183.2_Silent_p.K194K|SPAM1_ENST00000460182.1_Silent_p.K194K|SPAM1_ENST00000340011.5_Silent_p.K194K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	194					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTTGAAAAGGCAGGGAAGG	0.373													G|||	1237	0.247005	0.1271	0.379	5008	,	,		18479	0.3006		0.2753	False		,,,				2504	0.2311				p.K194K		Atlas-SNP	.											.	SPAM1	195	.	0			c.G582A						PASS	.	G	,,,,	694,3712	273.4+/-271.3	61,572,1570	66	70	69		582,582,582,582,582	0.8	0.1	7	dbSNP_100	69	2407,6193	390.9+/-343.5	325,1757,2218	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	,,,,	386,2329,3788	AA,AG,GG		27.9884,15.7512,23.8428	,,,,	194/510,194/510,194/510,194/512,194/510	123594206	3101,9905	2203	4300	6503	SO:0001819	synonymous_variant	6677	exon3			TGAAAAGGCAGGG	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.582G>A	7.37:g.123594206G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	94	93	0.989362	NM_153189	Q8TC30	Silent	SNP	ENST00000439500.1	37	CCDS5791.1																																																																																			G|0.754;T|0.001	.	strong		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123594206	G	A	123594206	2	1	22	1	0	0	0	0	0	0	0	1	14986	991	35	2		2	SPAM1	7	123594206	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	324926	123594206	35544457	4448	9556										
GPR37	2861	hgsc.bcm.edu	37	chr7	124404371	124404371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacccaaggatccattctgGgccagcgcccggcccgggag	13	16	2	0	rs61744942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:124404371G>A	ENST00000303921.2	-	1	1310	c.660C>T	c.(658-660)gcC>gcT	p.A220A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	220					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						ATCCATTCTGGGCCAGCGCCC	0.642													G|||	509	0.101637	0.2201	0.0591	5008	,	,		12246	0.0		0.0835	False		,,,				2504	0.0951				p.A220A		Atlas-SNP	.											GPR37,rectum,carcinoma,-1,1	GPR37	89	1	0			c.C660T						scavenged	.	G		826,3580	320.7+/-296.8	67,692,1444	36	40	39		660	-3	1	7	dbSNP_129	39	711,7889	172.0+/-222.8	29,653,3618	no	coding-synonymous	GPR37	NM_005302.2		96,1345,5062	AA,AG,GG		8.2674,18.7472,11.8176		220/614	124404371	1537,11469	2203	4300	6503	SO:0001819	synonymous_variant	2861	exon1			ATTCTGGGCCAGC		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.660C>T	7.37:g.124404371G>A		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																			G|0.889;A|0.111	0.111	strong		0.642	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124404371	G	A	124404371	2	1	22	1	0	0	0	0	0	0	0	1	6691	1219	43	2		2	GPR37	7	124404371	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	810165	124404371	34734292	4449	9557										
POT1	25913	hgsc.bcm.edu	37	chr7	124464037	124464037	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagattacatcttctgcaacTgtggtgtcaaaaatctgata	7	7	4	2	rs17147565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:124464037T>G	ENST00000357628.3	-	19	2482	c.1884A>C	c.(1882-1884)acA>acC	p.T628T	POT1_ENST00000393329.1_Silent_p.T497T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	628					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTTCTGCAACTGTGGTGTCAA	0.363													T|||	144	0.028754	0.1044	0.0086	5008	,	,		18834	0.0		0.0	False		,,,				2504	0.0				p.T628T	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	Atlas-SNP	.											POT1_ENST00000357628,NS,carcinoma,-2,2	POT1	186	2	0			c.A1884C						PASS	.	T	,	448,3956	212.5+/-232.4	28,392,1782	192	166	175		1491,1884	-0.8	0.9	7	dbSNP_123	175	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous	POT1	NM_001042594.1,NM_015450.2	,	28,394,6077	GG,GT,TT		0.0233,10.1726,3.4621	,	497/504,628/635	124464037	450,12548	2202	4297	6499	SO:0001819	synonymous_variant	25913	exon19			TGCAACTGTGGTG	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1884A>C	7.37:g.124464037T>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	194	102	0.525773	NM_015450	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	CCDS5793.1	52	0.023809523809523808	49	0.09959349593495935	3	0.008287292817679558	0	0.0	0	0.0	T	9.568	1.120153	0.20877	0.101726	2.33E-4	ENSG00000128513	ENST00000436534	.	.	.	5.95	-0.844	0.10741	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.02917	-1.1094	4	.	.	.	0.0241	5.3043	0.15795	0.1235:0.3184:0.0:0.5581	rs17147565;rs17147565	.	.	.	R	127	.	.	S	-	1	0	POT1	124251273	0.779000	0.28652	0.918000	0.36340	0.990000	0.78478	0.164000	0.16542	-0.092000	0.12417	0.533000	0.62120	AGT	T|0.970;G|0.030	0.030	strong		0.363	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			G	124464037	T	G	124464037	2	3	22	1	0	0	0	0	0	0	0	1	12260	1567	55	5		5	POT1	7	124464037	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	59666	124464037	34674626	4450	9558										
GRM8	2918	hgsc.bcm.edu	37	chr7	126173902	126173902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctgcagacagacgccgGgtgagtatgttctctatgag	14	9	1	4	rs61753365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:126173902G>C	ENST00000339582.2	-	9	2342	c.1534C>G	c.(1534-1536)Ccg>Gcg	p.P512A	GRM8_ENST00000444921.2_Missense_Mutation_p.P512A|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.P512A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	512					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACAGACGCCGGGTGAGTATGT	0.488										HNSCC(24;0.065)			G|||	89	0.0177716	0.0635	0.0072	5008	,	,		17794	0.0		0.0	False		,,,				2504	0.0				p.P512A		Atlas-SNP	.											GRM8,NS,carcinoma,+2,1	GRM8	377	1	0			c.C1534G						scavenged	.	G	ALA/PRO,ALA/PRO	274,4132	149.2+/-183.4	11,252,1940	53	57	56		1534,1534	5.8	1	7	dbSNP_129	56	3,8597		0,3,4297	yes	missense,missense	GRM8	NM_000845.2,NM_001127323.1	27,27	11,255,6237	CC,CG,GG		0.0349,6.2188,2.1298	probably-damaging,probably-damaging	512/909,512/909	126173902	277,12729	2203	4300	6503	SO:0001583	missense	2918	exon8			ACGCCGGGTGAGT		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1534C>G	7.37:g.126173902G>C	ENSP00000344173:p.Pro512Ala	Somatic	99	1	0.010101		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_000845	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	G	20.9	4.059053	0.76074	0.062188	3.49E-4	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.92699	-3.09;-3.09;-3.09	5.8	5.8	0.92144	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86401	0.1742	10	0.87932	D	0	.	19.0428	0.93008	0.0:0.0:1.0:0.0	rs61753365	512;512	O00222-2;O00222	.;GRM8_HUMAN	A	512	ENSP00000344173:P512A;ENSP00000409790:P512A;ENSP00000351142:P512A	ENSP00000344173:P512A	P	-	1	0	GRM8	125961138	1.000000	0.71417	0.971000	0.41717	0.816000	0.46133	9.859000	0.99545	2.758000	0.94735	0.643000	0.83706	CCG	G|0.968;C|0.032	0.032	strong		0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			C	126173902	G	C	126173902	3	2	22	1	0	0	0	0	1	0	0	0	6803	1232	43	4	1254	4	GRM8	7	126173902	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1709865	126173902	32964761	4451	9559										
ZNF800	168850	hgsc.bcm.edu	37	chr7	127026184	127026184	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggttgctgtaacaaaggAggatctccaggttccaggat	13	7	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:127026184A>C	ENST00000393313.1	-	3	678	c.87T>G	c.(85-87)ccT>ccG	p.P29P	ZNF800_ENST00000393312.1_Silent_p.P29P|ZNF800_ENST00000265827.3_Silent_p.P29P			Q2TB10	ZN800_HUMAN	zinc finger protein 800	29					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTAACAAAGGAGGATCTCCAG	0.343																																					p.P29P		Atlas-SNP	.											.	ZNF800	78	.	0			c.T87G						PASS	.						110	104	106					7																	127026184		2203	4300	6503	SO:0001819	synonymous_variant	168850	exon3			CAAAGGAGGATCT	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.87T>G	7.37:g.127026184A>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_176814	Q9HBN0	Silent	SNP	ENST00000393313.1	37	CCDS5795.1																																																																																			.	.	none		0.343	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		C	127026184	A	C	127026184	2	2	22	1	0	0	0	0	0	0	0	1	18166	291	11	5		5	ZNF800	7	127026184	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	852282	127026184	32112479	4452	9560										
FAM71F2	346653	hgsc.bcm.edu	37	chr7	128315889	128315889	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctggagcacacctggtgAcgccccagtcatcaacctca	8	17	3	1	rs6971819	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:128315889A>T	ENST00000480462.1	+	2	447	c.341A>T	c.(340-342)gAc>gTc	p.D114V	FAM71F2_ENST00000378704.3_Missense_Mutation_p.D105V|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.D114V			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	114			D -> V (in dbSNP:rs6971819). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334}.							NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ACACCTGGTGACGCCCCAGTC	0.562													.|||	567	0.113219	0.2186	0.0677	5008	,	,		15377	0.0278		0.1203	False		,,,				2504	0.0838				p.D114V		Atlas-SNP	.											.	FAM71F2	19	.	0			c.A341T						PASS	.	A	VAL/ASP,VAL/ASP	755,3051		85,585,1233	43	41	41		341,314	0.5	0	7	dbSNP_116	41	957,7289		62,833,3228	yes	missense,missense	FAM71F2	NM_001012454.3,NM_001128926.1	152,152	147,1418,4461	TT,TA,AA		11.6056,19.8371,14.2051	benign,benign	114/310,105/301	128315889	1712,10340	1903	4123	6026	SO:0001583	missense	346653	exon2			CTGGTGACGCCCC	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.341A>T	7.37:g.128315889A>T	ENSP00000420140:p.Asp114Val	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	50	25	0.5	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	235	0.10760073260073261	90	0.18292682926829268	28	0.07734806629834254	18	0.03146853146853147	99	0.13060686015831136	A	2.983	-0.209937	0.06140	0.198371	0.116056	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.30714	2.2;2.2;2.2;2.2;1.52	4.16	0.475	0.16774	.	2.399370	0.01787	N	0.032075	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25152	-1.0140	9	0.33940	T	0.23	-6.2876	0.5566	0.00672	0.2287:0.3575:0.2032:0.2107	rs6971819;rs6971819	105;114	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	V	105;114;105;105;114	ENSP00000418907:D105V;ENSP00000420140:D114V;ENSP00000367976:D105V;ENSP00000401654:D105V;ENSP00000419649:D114V	ENSP00000367976:D105V	D	+	2	0	FAM71F2	128103125	0.005000	0.15991	0.025000	0.17156	0.320000	0.28249	-0.094000	0.11094	-0.021000	0.14009	0.455000	0.32223	GAC	A|0.892;T|0.108	0.108	strong		0.562	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			T	128315889	A	T	128315889	3	4	22	1	0	0	0	0	1	0	0	0	5613	275	10	5	347	5	FAM71F2	7	128315889	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1289705	128315889	30822774	4453	9561										
FAM40B	57464	hgsc.bcm.edu	37	chr7	129098602	129098602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcaggaacaagttcatcGgattcaccctggggcagtaa	12	9	2	1	rs571423095		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:129098602G>A	ENST00000249344.2	+	11	1364	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	STRIP2_ENST00000435494.2_Missense_Mutation_p.G442R	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	442					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.G442R(1)									CAAGTTCATCGGATTCACCCT	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0				p.G442R		Atlas-SNP	.											FAM40B,lymph_node,lymphoid_neoplasm,0,1	.	.	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1324A						PASS	.						110	95	100					7																	129098602		2203	4300	6503	SO:0001583	missense	57464	exon11			TTCATCGGATTCA	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1324G>A	7.37:g.129098602G>A	ENSP00000249344:p.Gly442Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	112	45	0.401786	NM_020704	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608630	0.87258	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.48836	0.8;0.8	5.34	5.34	0.76211	.	0.102042	0.64402	D	0.000002	T	0.73087	0.3542	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76016	-0.3113	10	0.54805	T	0.06	-3.4152	18.3766	0.90437	0.0:0.0:1.0:0.0	.	442;442	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	R	442;442;113	ENSP00000249344:G442R;ENSP00000392393:G442R	ENSP00000249344:G442R	G	+	1	0	FAM40B	128885838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.747000	0.98863	2.655000	0.90218	0.561000	0.74099	GGA	.	.	none		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		A	129098602	G	A	129098602	3	1	22	1	0	0	0	0	1	0	0	0	5561	1117	39	1	1366	1	FAM40B	7	129098602	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	782713	129098602	30040061	4454	9562										
NRF1	4899	hgsc.bcm.edu	37	chr7	129297332	129297332	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaagactcgccttcttcTcccgaggacacctcttacga	8	14	3	2	rs1882094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:129297332T>G	ENST00000393232.1	+	2	258	c.141T>G	c.(139-141)tcT>tcG	p.S47S	NRF1_ENST00000311967.2_Silent_p.S47S|NRF1_ENST00000393231.3_Silent_p.S47S|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000353868.4_Silent_p.S47S|NRF1_ENST00000223190.4_Silent_p.S47S|NRF1_ENST00000393230.2_Silent_p.S47S	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	47	Asp/Glu-rich (acidic).|Dimerization.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGCCTTCTTCTCCCGAGGACA	0.512																																					p.S47S		Atlas-SNP	.											NRF1,NS,adenoma,0,1	NRF1	40	1	0			c.T141G						PASS	.	T	,	2992,1414	686.2+/-404.7	1016,960,227	127	108	114		141,141	-0.5	1	7	dbSNP_92	114	2533,6067	412.5+/-350.8	383,1767,2150	no	coding-synonymous,coding-synonymous	NRF1	NM_001040110.1,NM_005011.3	,	1399,2727,2377	GG,GT,TT		29.4535,32.0926,42.4804	,	47/504,47/504	129297332	5525,7481	2203	4300	6503	SO:0001819	synonymous_variant	4899	exon2			TTCTTCTCCCGAG	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.141T>G	7.37:g.129297332T>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	CCDS5813.2																																																																																			T|0.531;G|0.469	0.469	strong		0.512	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		G	129297332	T	G	129297332	2	3	22	1	0	0	0	0	0	0	0	1	10646	1538	54	5		5	NRF1	7	129297332	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	198730	129297332	29841331	4455	9563										
C7orf45	136263	hgsc.bcm.edu	37	chr7	129855837	129855837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaagagacttcctgtaagCggcaaagcaaagacagtgcc	11	10	0	2	rs4728190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:129855837C>T	ENST00000297819.3	+	3	313	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	88			R -> W (in dbSNP:rs4728190).			integral component of membrane (GO:0016021)											TTCCTGTAAGCGGCAAAGCAA	0.408													C|||	936	0.186901	0.357	0.1499	5008	,	,		22584	0.0069		0.2366	False		,,,				2504	0.1176				p.R88W		Atlas-SNP	.											.	.	.	.	0			c.C262T						PASS	.	C	TRP/ARG	1516,2890	482.6+/-359.5	262,992,949	113	103	106		262	-3	0	7	dbSNP_111	106	2057,6543	357.1+/-330.6	239,1579,2482	yes	missense	C7orf45	NM_145268.3	101	501,2571,3431	TT,TC,CC		23.9186,34.4076,27.4719	benign	88/245	129855837	3573,9433	2203	4300	6503	SO:0001583	missense	0	exon3			TGTAAGCGGCAAA	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.262C>T	7.37:g.129855837C>T	ENSP00000297819:p.Arg88Trp	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	183	84	0.459016	NM_145268		Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	425	0.1945970695970696	179	0.3638211382113821	61	0.1685082872928177	1	0.0017482517482517483	184	0.24274406332453827	C	4.155	0.027164	0.08054	0.344076	0.239186	ENSG00000165120	ENST00000297819	T	0.49720	0.77	5.84	-2.95	0.05564	.	0.712332	0.13336	N	0.395538	T	0.00012	0.0000	L	0.28115	0.83	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.38993	-0.9635	9	0.42905	T	0.14	-0.0013	2.0059	0.03477	0.1078:0.357:0.2119:0.3233	rs4728190;rs52821550;rs57504232;rs4728190	88	Q8WWF3	CG045_HUMAN	W	88	ENSP00000297819:R88W	ENSP00000297819:R88W	R	+	1	2	C7orf45	129643073	0.158000	0.22850	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-0.684000	0.05183	-1.287000	0.01368	CGG	C|0.758;T|0.242	0.242	strong		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		T	129855837	C	T	129855837	3	4	22	1	0	0	0	0	1	0	0	0	2395	759	27	1	272	1	C7orf45	7	129855837	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	558505	129855837	29282826	4456	9564										
CPA5	93979	hgsc.bcm.edu	37	chr7	129986338	129986338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagaagcatgcagggcacCcctggaggcgggacgcgccc	17	13	0	1	rs6973851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:129986338C>T	ENST00000485477.1	+	2	1141	c.12C>T	c.(10-12)acC>acT	p.T4T	CPA5_ENST00000355388.3_Silent_p.T4T|snoU13_ENST00000459205.1_RNA|CPA5_ENST00000466363.2_Silent_p.T4T|CPA5_ENST00000461828.1_Silent_p.T4T|CPA5_ENST00000393213.3_Silent_p.T4T|CPA5_ENST00000474905.1_Silent_p.T4T|CPA5_ENST00000431780.2_Silent_p.T4T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	4						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGCAGGGCACCCCTGGAGGCG	0.622													C|||	2972	0.59345	0.6467	0.6484	5008	,	,		18970	0.5347		0.5845	False		,,,				2504	0.5521				p.T4T		Atlas-SNP	.											.	CPA5	61	.	0			c.C12T						PASS	.	C	,,	2812,1594	662.3+/-401.0	900,1012,291	66	72	70		12,12,12	1.6	0	7	dbSNP_116	70	4989,3611	624.1+/-397.5	1444,2101,755	no	coding-synonymous,coding-synonymous,coding-synonymous	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	,,	2344,3113,1046	TT,TC,CC		41.9884,36.1779,40.02	,,	4/437,4/404,4/437	129986338	7801,5205	2203	4300	6503	SO:0001819	synonymous_variant	93979	exon3			GGGCACCCCTGGA	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.12C>T	7.37:g.129986338C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_080385	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	ENST00000485477.1	37	CCDS5819.1																																																																																			C|0.418;T|0.582	0.582	strong		0.622	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		T	129986338	C	T	129986338	2	4	22	1	0	0	0	0	0	0	0	1	3793	610	22	2		2	CPA5	7	129986338	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	130501	129986338	29152325	4457	9565										
CPA5	93979	hgsc.bcm.edu	37	chr7	129989878	129989878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatgagagttcctttctcTgaactgaaagacatcaaagc	8	8	2	4	rs7808823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:129989878T>C	ENST00000485477.1	+	4	1390	c.261T>C	c.(259-261)tcT>tcC	p.S87S	CPA5_ENST00000355388.3_Silent_p.S87S|CPA5_ENST00000461828.1_Silent_p.S87S|CPA5_ENST00000466363.2_Silent_p.S87S|CPA5_ENST00000393213.3_Silent_p.S87S|CPA5_ENST00000474905.1_Silent_p.S87S|CPA5_ENST00000431780.2_Silent_p.S87S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	87						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TTCCTTTCTCTGAACTGAAAG	0.527													C|||	2619	0.522963	0.4539	0.6311	5008	,	,		20994	0.5675		0.5219	False		,,,				2504	0.4949				p.S87S		Atlas-SNP	.											.	CPA5	61	.	0			c.T261C						PASS	.	C	,,	2066,2340	607.0+/-390.9	488,1090,625	123	124	124		261,261,261	-1.2	1	7	dbSNP_116	124	4384,4216	571.4+/-389.5	1128,2128,1044	yes	coding-synonymous,coding-synonymous,coding-synonymous	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	,,	1616,3218,1669	CC,CT,TT		49.0233,46.8906,49.5925	,,	87/437,87/404,87/437	129989878	6450,6556	2203	4300	6503	SO:0001819	synonymous_variant	93979	exon5			TTTCTCTGAACTG	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.261T>C	7.37:g.129989878T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_080385	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	ENST00000485477.1	37	CCDS5819.1																																																																																			C|0.512;N|0.000	0.512	strong		0.527	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		C	129989878	T	C	129989878	2	2	22	1	0	0	0	0	0	0	0	1	3793	1567	55	3		3	CPA5	7	129989878	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3540	129989878	29148785	4458	9566										
CPA5	93979	hgsc.bcm.edu	37	chr7	130007381	130007381	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtacccttacggccgatTgctggagcccgtttcaaatc					rs11761888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:130007381T>C	ENST00000485477.1	+	10	2136	c.1007T>C	c.(1006-1008)tTg>tCg	p.L336S	CPA5_ENST00000355388.3_Missense_Mutation_p.L336S|CPA5_ENST00000461828.1_Missense_Mutation_p.L336S|CPA5_ENST00000466363.2_Missense_Mutation_p.L336S|CPA5_ENST00000393213.3_Missense_Mutation_p.L336S|CPA5_ENST00000474905.1_Missense_Mutation_p.L336S|CPA5_ENST00000431780.2_Missense_Mutation_p.L336S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	336			L -> S (in dbSNP:rs11761888). {ECO:0000269|PubMed:11920156, ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGGCCGATTGCTGGAGCCC	0.517													C|||	1014	0.202476	0.4259	0.1225	5008	,	,		18328	0.0258		0.2048	False		,,,				2504	0.137				p.L336S		Atlas-SNP	.											.	CPA5	61	.	0			c.T1007C						PASS	.	C	SER/LEU,SER/LEU,SER/LEU	1672,2734	655.8+/-400.0	307,1058,838	124	118	120		1007,1007,1007	3.7	0.3	7	dbSNP_120	120	1854,6746	730.2+/-406.8	202,1450,2648	yes	missense,missense,missense	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	145,145,145	509,2508,3486	CC,CT,TT		21.5581,37.9483,27.1106	benign,benign,benign	336/437,336/404,336/437	130007381	3526,9480	2203	4300	6503	SO:0001583	missense	93979	exon11			GCCGATTGCTGGA	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1007T>C	7.37:g.130007381T>C	ENSP00000420237:p.Leu336Ser	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	314	144	0.458599	NM_080385	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	417	0.19093406593406592	198	0.4024390243902439	46	0.1270718232044199	12	0.02097902097902098	161	0.21240105540897097	C	2.814	-0.246343	0.05867	0.379483	0.215581	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.02656	4.21;4.21;4.21;4.21;4.21;4.21;4.21	5.61	3.73	0.42828	Peptidase M14, carboxypeptidase A (2);	0.780103	0.11283	N	0.580123	T	0.00012	0.0000	N	0.00053	-2.385	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40059	-0.9583	8	.	.	.	.	4.6819	0.12739	0.2065:0.5242:0.1911:0.0783	rs11761888;rs17857277;rs61540978;rs11761888	336;336	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	336	ENSP00000347549:L336S;ENSP00000418183:L336S;ENSP00000419025:L336S;ENSP00000420237:L336S;ENSP00000393045:L336S;ENSP00000417314:L336S;ENSP00000376907:L336S	.	L	+	2	0	CPA5	129794617	0.736000	0.28164	0.289000	0.24876	0.002000	0.02628	0.926000	0.28804	1.389000	0.46526	-0.355000	0.07637	TTG	C|0.239;T|0.761	0.239	strong		0.517	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		C	130007381	T	C	130007381	3	2	22	1	0	0	0	0	1	0	0	0	3793	1821	63	2	1041	2	CPA5	7	130007381	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17503	130007381	29131282	4459	9567	198	2								
CPA5	93979	hgsc.bcm.edu	37	chr7	130007388	130007388	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttacggccgattgctggaGcccgtttcaaatcagaggga					rs17854248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:130007388G>T	ENST00000485477.1	+	10	2143	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D	CPA5_ENST00000355388.3_Missense_Mutation_p.E338D|CPA5_ENST00000461828.1_Missense_Mutation_p.E338D|CPA5_ENST00000466363.2_Missense_Mutation_p.E338D|CPA5_ENST00000393213.3_Missense_Mutation_p.E338D|CPA5_ENST00000474905.1_Missense_Mutation_p.E338D|CPA5_ENST00000431780.2_Missense_Mutation_p.E338D			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	338			E -> D (in dbSNP:rs17854248). {ECO:0000269|PubMed:11920156, ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GATTGCTGGAGCCCGTTTCAA	0.517													G|||	670	0.133786	0.208	0.0908	5008	,	,		18238	0.003		0.1958	False		,,,				2504	0.135				p.E338D		Atlas-SNP	.											.	CPA5	61	.	0			c.G1014T						PASS	.	G	ASP/GLU,ASP/GLU,ASP/GLU	929,3477	356.1+/-313.4	105,719,1379	116	112	114		1014,1014,1014	3.8	1	7	dbSNP_123	114	1797,6803	324.6+/-316.5	188,1421,2691	yes	missense,missense,missense	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	45,45,45	293,2140,4070	TT,TG,GG		20.8953,21.0849,20.9596	benign,benign,benign	338/437,338/404,338/437	130007388	2726,10280	2203	4300	6503	SO:0001583	missense	93979	exon11			GCTGGAGCCCGTT	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1014G>T	7.37:g.130007388G>T	ENSP00000420237:p.Glu338Asp	Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	310	138	0.445161	NM_080385	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	306	0.1401098901098901	111	0.22560975609756098	38	0.10497237569060773	1	0.0017482517482517483	156	0.20580474934036938	G	8.114	0.779385	0.16120	0.210849	0.208953	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.61	3.81	0.43845	Peptidase M14, carboxypeptidase A (2);	0.096048	0.45606	D	0.000349	T	0.00012	0.0000	L	0.32530	0.975	0.45733	P	0.0013640000000000319	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.45086	-0.9285	8	.	.	.	.	8.5473	0.33429	0.3033:0.0:0.6967:0.0	rs17854248;rs60477216	338;338	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	D	338	ENSP00000347549:E338D;ENSP00000418183:E338D;ENSP00000419025:E338D;ENSP00000420237:E338D;ENSP00000393045:E338D;ENSP00000417314:E338D;ENSP00000376907:E338D	.	E	+	3	2	CPA5	129794624	0.000000	0.05858	0.995000	0.50966	0.168000	0.22595	-0.706000	0.05047	0.732000	0.32470	0.462000	0.41574	GAG	G|0.810;T|0.190	0.190	strong		0.517	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		T	130007388	G	T	130007388	3	4	22	1	0	0	0	0	1	0	0	0	3793	962	34	4	1048	4	CPA5	7	130007388	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7	130007388	29131275	4460	9568	198	2								
CPA5	93979	hgsc.bcm.edu	37	chr7	130008285	130008285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaccgtcgactgggcctaTgacagtggcatcaagtacgc	11	12	2	1	rs17164867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:130008285T>C	ENST00000485477.1	+	12	2287	c.1158T>C	c.(1156-1158)taT>taC	p.Y386Y	CPA5_ENST00000355388.3_Silent_p.Y386Y|CPA5_ENST00000461828.1_Silent_p.Y386Y|CPA5_ENST00000466363.2_Silent_p.Y386Y|CPA5_ENST00000393213.3_Silent_p.Y386Y|CPA5_ENST00000474905.1_Silent_p.Y386Y|CPA5_ENST00000431780.2_Missense_Mutation_p.M358T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	386						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTGGGCCTATGACAGTGGCA	0.557													C|||	765	0.152756	0.2602	0.0937	5008	,	,		17924	0.0268		0.1958	False		,,,				2504	0.135				p.M358T		Atlas-SNP	.											.	CPA5	61	.	0			c.T1073C						PASS	.	C	,THR/MET,	1076,3330	722.0+/-409.2	135,806,1262	145	129	134		1158,1073,1158	-7.8	0.6	7	dbSNP_123	134	1798,6802	733.0+/-406.9	189,1420,2691	yes	coding-synonymous,missense,coding-synonymous	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	,81,	324,2226,3953	CC,CT,TT		20.907,24.4212,22.0975	,,	386/437,358/404,386/437	130008285	2874,10132	2203	4300	6503	SO:0001819	synonymous_variant	93979	exon11			GGCCTATGACAGT	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1158T>C	7.37:g.130008285T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	70	31	0.442857	NM_001127442	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	335	0.1533882783882784	128	0.2601626016260163	38	0.10497237569060773	13	0.022727272727272728	156	0.20580474934036938	C	7.244	0.601842	0.13939	0.244212	0.20907	ENSG00000158525	ENST00000431780;ENST00000479492	T	0.11930	2.73	5.81	-7.82	0.01205	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.33163	-0.9879	6	.	.	.	.	19.8416	0.96692	0.0:0.7195:0.0:0.2805	rs17164867;rs17854249;rs61027423	358	G3V0G8	.	T	358;35	ENSP00000393045:M358T	.	M	+	2	0	CPA5	129795521	0.000000	0.05858	0.630000	0.29268	0.009000	0.06853	-2.080000	0.01368	-1.647000	0.01511	-2.133000	0.00342	ATG	C|0.201;T|0.799	0.201	strong		0.557	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		C	130008285	T	C	130008285	2	2	22	1	0	0	0	0	0	0	0	1	3793	1474	51	2		2	CPA5	7	130008285	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	897	130008285	29130378	4461	9569										
CPA1	1357	hgsc.bcm.edu	37	chr7	130021488	130021488	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctggacttctggcggggGcctgcccaccctggctcccc	13	18	1	0	rs1126899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:130021488G>C	ENST00000011292.3	+	3	315	c.165G>C	c.(163-165)ggG>ggC	p.G55G	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	55					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCTGGCGGGGGCCTGCCCACC	0.677													C|||	2916	0.582268	0.6611	0.5504	5008	,	,		14677	0.621		0.5467	False		,,,				2504	0.4949				p.G55G		Atlas-SNP	.											.	CPA1	73	.	0			c.G165C						PASS	.	C		2828,1578		921,986,296	34	30	32		165	-0.2	0	7	dbSNP_86	32	4333,4265		1131,2071,1097	no	coding-synonymous	CPA1	NM_001868.2		2052,3057,1393	CC,CG,GG		49.6046,35.8148,44.9323		55/420	130021488	7161,5843	2203	4299	6502	SO:0001819	synonymous_variant	1357	exon3			GCGGGGGCCTGCC		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.165G>C	7.37:g.130021488G>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	117	115	0.982906	NM_001868	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																			C|0.552;G|0.448	0.552	strong		0.677	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		C	130021488	G	C	130021488	2	2	22	1	0	0	0	0	0	0	0	1	3789	1190	42	4		4	CPA1	7	130021488	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13203	130021488	29117175	4462	9570										
MKLN1	4289	hgsc.bcm.edu	37	chr7	131128450	131128450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgaataggacactgcatgTtattccactcagtaagaaca	7	10	1	1	rs10224156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:131128450T>C	ENST00000352689.6	+	11	1424	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L	MKLN1_ENST00000421797.2_Silent_p.L370L	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	462					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACACTGCATGTTATTCCACTC	0.398													C|||	239	0.0477236	0.1702	0.0187	5008	,	,		23230	0.0		0.001	False		,,,				2504	0.0				p.L462L		Atlas-SNP	.											.	MKLN1	67	.	0			c.T1384C						PASS	.	C	,	707,3699	760.0+/-412.9	54,599,1550	95	85	89		1315,1384	4.1	1	7	dbSNP_119	89	13,8587	818.8+/-406.8	0,13,4287	no	coding-synonymous,coding-synonymous	MKLN1	NM_001145354.1,NM_013255.4	,	54,612,5837	CC,CT,TT		0.1512,16.0463,5.5359	,	439/713,462/736	131128450	720,12286	2203	4300	6503	SO:0001819	synonymous_variant	4289	exon11			TGCATGTTATTCC	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1384T>C	7.37:g.131128450T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	157	89	0.566879	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	CCDS34754.1																																																																																			T|0.948;C|0.052	0.052	strong		0.398	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		C	131128450	T	C	131128450	2	2	22	1	0	0	0	0	0	0	0	1	9603	1722	60	2		2	MKLN1	7	131128450	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1106962	131128450	28010213	4463	9571										
PODXL	5420	hgsc.bcm.edu	37	chr7	131190696	131190696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacgaggagcaggaatgaTgccatgcagacgatggtgat	15	8	0	3	rs6651125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:131190696T>C	ENST00000378555.3	-	8	1657	c.1410A>G	c.(1408-1410)gcA>gcG	p.A470A	PODXL_ENST00000537928.1_Silent_p.A438A|PODXL_ENST00000541194.1_Silent_p.A472A|PODXL_ENST00000322985.9_Silent_p.A438A			O00592	PODXL_HUMAN	podocalyxin-like	470					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCAGGAATGATGCCATGCAGA	0.627													C|||	1787	0.356829	0.3661	0.4207	5008	,	,		16011	0.3026		0.3877	False		,,,				2504	0.3231				p.A470A		Atlas-SNP	.											.	PODXL	53	.	0			c.A1410G						PASS	.	C	,	1476,2930		247,982,974	45	37	40		1410,1314	-10.4	0	7	dbSNP_116	40	3025,5575		529,1967,1804	no	coding-synonymous,coding-synonymous	PODXL	NM_001018111.2,NM_005397.3	,	776,2949,2778	CC,CT,TT		35.1744,33.4998,34.6071	,	470/559,438/527	131190696	4501,8505	2203	4300	6503	SO:0001819	synonymous_variant	5420	exon8			GAATGATGCCATG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1410A>G	7.37:g.131190696T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	CCDS34755.1																																																																																			T|0.657;C|0.343	0.343	strong		0.627	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		C	131190696	T	C	131190696	2	2	22	1	0	0	0	0	0	0	0	1	12180	1451	51	2		2	PODXL	7	131190696	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	62246	131190696	27947967	4464	9572										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	131864657	131864657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtacaccatccccggggaGtactccatgccaccgacacg	9	16	0	0	rs374317794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:131864657G>A	ENST00000359827.3	-	20	4625	c.3663C>T	c.(3661-3663)taC>taT	p.Y1221Y	PLXNA4_ENST00000321063.4_Silent_p.Y1221Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1221	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCCCGGGGAGTACTCCATGC	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16981	0.0		0.0	False		,,,				2504	0.0				p.Y1221Y		Atlas-SNP	.											.	PLXNA4	873	.	0			c.C3663T						PASS	.	G		9,4255		0,9,2123	15	17	17		3663	4	1	7		17	0,8480		0,0,4240	no	coding-synonymous	PLXNA4	NM_020911.1		0,9,6363	AA,AG,GG		0.0,0.2111,0.0706		1221/1895	131864657	9,12735	2132	4240	6372	SO:0001819	synonymous_variant	91584	exon20			CGGGGAGTACTCC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3663C>T	7.37:g.131864657G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	56	26	0.464286	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.	.	weak		0.637	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131864657	G	A	131864657	2	1	22	1	0	0	0	0	0	0	0	1	12122	1024	36	2		2	PLXNA4	7	131864657	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	673961	131864657	27274006	4465	9573										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	132192295	132192295	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggatgtccttcaccttGagccaggccaggtccagcgt	13	13	1	1	rs156961|rs200081174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:132192295G>A	ENST00000359827.3	-	2	2120	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PLXNA4_ENST00000423507.2_Silent_p.L386L|PLXNA4_ENST00000378539.5_Silent_p.L386L|PLXNA4_ENST00000321063.4_Silent_p.L386L			Q9HCM2	PLXA4_HUMAN	plexin A4	386	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTTCACCTTGAGCCAGGCCA	0.612													G|||	1969	0.393171	0.5159	0.3588	5008	,	,		20224	0.2708		0.3917	False		,,,				2504	0.3793				p.L386L		Atlas-SNP	.											.	PLXNA4	873	.	0			c.C1158T						PASS	.	G	,,	2111,2295	547.2+/-377.2	509,1093,601	56	45	49		1158,1158,1158	3.2	1	7	dbSNP_79	49	3347,5253	468.8+/-367.4	641,2065,1594	no	coding-synonymous,coding-synonymous,coding-synonymous	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	,,	1150,3158,2195	AA,AG,GG		38.9186,47.9119,41.9652	,,	386/493,386/1895,386/523	132192295	5458,7548	2203	4300	6503	SO:0001819	synonymous_variant	91584	exon2			CACCTTGAGCCAG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1158C>T	7.37:g.132192295G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			G|0.594;A|0.406	0.406	strong		0.612	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	132192295	G	A	132192295	2	1	22	1	0	0	0	0	0	0	0	1	12122	1277	45	2		2	PLXNA4	7	132192295	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	327638	132192295	26946368	4466	9574										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	132192949	132192949	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacgatcactccaaagacTgagccgctctcgttgacacc	9	14	2	4	rs156962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:132192949T>C	ENST00000359827.3	-	2	1466	c.504A>G	c.(502-504)tcA>tcG	p.S168S	PLXNA4_ENST00000423507.2_Silent_p.S168S|PLXNA4_ENST00000378539.5_Silent_p.S168S|PLXNA4_ENST00000321063.4_Silent_p.S168S			Q9HCM2	PLXA4_HUMAN	plexin A4	168	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S168S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCAAAGACTGAGCCGCTCT	0.542													C|||	1970	0.393371	0.5159	0.3588	5008	,	,		19381	0.2718		0.3917	False		,,,				2504	0.3793				p.S168S		Atlas-SNP	.											PLXNA4_ENST00000359827,NS,carcinoma,0,2	PLXNA4	873	2	2	Substitution - coding silent(2)	stomach(2)	c.A504G						PASS	.	C	,,	2117,2289	600.1+/-389.4	512,1093,598	110	98	102		504,504,504	-10.5	0.1	7	dbSNP_79	102	3346,5254	642.8+/-399.9	639,2068,1593	no	coding-synonymous,coding-synonymous,coding-synonymous	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	,,	1151,3161,2191	CC,CT,TT		38.907,48.0481,42.0037	,,	168/493,168/1895,168/523	132192949	5463,7543	2203	4300	6503	SO:0001819	synonymous_variant	91584	exon2			AAAGACTGAGCCG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.504A>G	7.37:g.132192949T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	130	71	0.546154	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			T|0.598;C|0.402	0.402	strong		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		C	132192949	T	C	132192949	2	2	22	1	0	0	0	0	0	0	0	1	12122	1567	55	3		3	PLXNA4	7	132192949	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	654	132192949	26945714	4467	9575										
PLXNA4	91584	hgsc.bcm.edu	37	chr7	132193225	132193225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaccaagaccttcaggtcGctggagagcttgtaaatccg	11	11	2	2	rs78248128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:132193225G>A	ENST00000359827.3	-	2	1190	c.228C>T	c.(226-228)agC>agT	p.S76S	PLXNA4_ENST00000423507.2_Silent_p.S76S|PLXNA4_ENST00000378539.5_Silent_p.S76S|PLXNA4_ENST00000321063.4_Silent_p.S76S			Q9HCM2	PLXA4_HUMAN	plexin A4	76	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTTCAGGTCGCTGGAGAGCT	0.587													G|||	189	0.0377396	0.1293	0.013	5008	,	,		18830	0.0		0.004	False		,,,				2504	0.0051				p.S76S		Atlas-SNP	.											.	PLXNA4	873	.	0			c.C228T						PASS	.	G	,,	450,3956	214.8+/-234.0	26,398,1779	57	60	59		228,228,228	-4.6	1	7	dbSNP_131	59	23,8577	16.0+/-53.3	1,21,4278	no	coding-synonymous,coding-synonymous,coding-synonymous	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	,,	27,419,6057	AA,AG,GG		0.2674,10.2133,3.6368	,,	76/493,76/1895,76/523	132193225	473,12533	2203	4300	6503	SO:0001819	synonymous_variant	91584	exon2			CAGGTCGCTGGAG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.228C>T	7.37:g.132193225G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	158	92	0.582278	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			G|0.966;A|0.034	0.034	strong		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	132193225	G	A	132193225	2	1	22	1	0	0	0	0	0	0	0	1	12122	1078	38	1		1	PLXNA4	7	132193225	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	276	132193225	26945438	4468	9576										
CHCHD3	54927	hgsc.bcm.edu	37	chr7	132470419	132470419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcctcccttctcaagcatGctctgcaagaaaaacagaaa	5	12	2	2	rs147050556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:132470419G>A	ENST00000262570.5	-	8	807	c.663C>T	c.(661-663)agC>agT	p.S221S	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Silent_p.S226S	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	221					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TCTCAAGCATGCTCTGCAAGA	0.353													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0				p.S221S		Atlas-SNP	.											.	CHCHD3	21	.	0			c.C663T						PASS	.	G		18,4388	25.3+/-52.1	0,18,2185	100	95	97		663	5.8	1	7	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	CHCHD3	NM_017812.2		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		221/228	132470419	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	54927	exon8			AAGCATGCTCTGC	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.663C>T	7.37:g.132470419G>A		Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	324	186	0.574074	NM_017812		Silent	SNP	ENST00000262570.5	37	CCDS5828.1																																																																																			G|0.998;A|0.002	0.002	strong		0.353	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		A	132470419	G	A	132470419	2	1	22	1	0	0	0	0	0	0	0	1	3317	1310	46	2		2	CHCHD3	7	132470419	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	277194	132470419	26668244	4469	9577										
EXOC4	60412	hgsc.bcm.edu	37	chr7	133682285	133682285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacacgaacacggatctCcccccagtgtcagagcagat	9	15	2	2	rs34608222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:133682285C>T	ENST00000253861.4	+	15	2276	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	EXOC4_ENST00000545148.1_Silent_p.L359L|EXOC4_ENST00000541309.1_Silent_p.L37L|EXOC4_ENST00000539845.1_Silent_p.L648L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACACGGATCTCCCCCCAGTGT	0.458													C|||	62	0.0123802	0.0439	0.0043	5008	,	,		19403	0.0		0.001	False		,,,				2504	0.0				p.L749L		Atlas-SNP	.											.	EXOC4	118	.	0			c.C2247T						PASS	.	C		209,4197	126.6+/-163.6	9,191,2003	141	114	123		2247	-2.3	0.6	7	dbSNP_126	123	0,8600		0,0,4300	no	coding-synonymous	EXOC4	NM_021807.3		9,191,6303	TT,TC,CC		0.0,4.7435,1.607		749/975	133682285	209,12797	2203	4300	6503	SO:0001819	synonymous_variant	60412	exon15			GGATCTCCCCCCA	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2247C>T	7.37:g.133682285C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	117	56	0.478632	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																			C|0.986;T|0.014	0.014	strong		0.458	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		T	133682285	C	T	133682285	2	4	22	1	0	0	0	0	0	0	0	1	5306	842	30	2		2	EXOC4	7	133682285	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1211866	133682285	25456378	4470	9578										
EXOC4	60412	hgsc.bcm.edu	37	chr7	133749077	133749077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctttacaacacagctgaCgagctcctgaacctggtggt	10	11	0	2	rs139944066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:133749077C>T	ENST00000253861.4	+	18	2750	c.2721C>T	c.(2719-2721)gaC>gaT	p.D907D	EXOC4_ENST00000545148.1_Silent_p.D517D|EXOC4_ENST00000541309.1_Silent_p.D195D|EXOC4_ENST00000539845.1_Silent_p.D806D	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	907					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACACAGCTGACGAGCTCCTGA	0.577													C|||	11	0.00219649	0.0083	0.0	5008	,	,		21152	0.0		0.0	False		,,,				2504	0.0				p.D907D		Atlas-SNP	.											.	EXOC4	118	.	0			c.C2721T						PASS	.	C		21,4385	28.1+/-56.4	0,21,2182	90	76	81		2721	-8.4	0.4	7	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	EXOC4	NM_021807.3		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		907/975	133749077	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	60412	exon18			AGCTGACGAGCTC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2721C>T	7.37:g.133749077C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	118	52	0.440678	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																			C|0.997;T|0.003	0.003	strong		0.577	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		T	133749077	C	T	133749077	2	4	22	1	0	0	0	0	0	0	0	1	5306	535	19	1		1	EXOC4	7	133749077	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66792	133749077	25389586	4471	9579										
LRGUK	136332	hgsc.bcm.edu	37	chr7	133881794	133881794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcacaagtatggattaaaTagggacaccgtagaaggtat	10	5	1	1	rs35258804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:133881794T>C	ENST00000285928.2	+	13	1551	c.1482T>C	c.(1480-1482)aaT>aaC	p.N494N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	494	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATGGATTAAATAGGGACACCG	0.358													T|||	188	0.0375399	0.1324	0.013	5008	,	,		18959	0.0		0.001	False		,,,				2504	0.0031				p.N494N		Atlas-SNP	.											.	LRGUK	113	.	0			c.T1482C						PASS	.	T		484,3922	226.9+/-242.2	40,404,1759	164	154	158		1482	0.7	0.4	7	dbSNP_126	158	22,8578	16.0+/-53.3	0,22,4278	no	coding-synonymous	LRGUK	NM_144648.1		40,426,6037	CC,CT,TT		0.2558,10.985,3.8905		494/826	133881794	506,12500	2203	4300	6503	SO:0001819	synonymous_variant	136332	exon13			ATTAAATAGGGAC	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1482T>C	7.37:g.133881794T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_144648	Q2M3I1	Silent	SNP	ENST00000285928.2	37	CCDS5830.1																																																																																			T|0.963;C|0.037	0.037	strong		0.358	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		C	133881794	T	C	133881794	2	2	22	1	0	0	0	0	0	0	0	1	8943	1403	49	2		2	LRGUK	7	133881794	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	132717	133881794	25256869	4472	9580										
AKR1B15	441282	hgsc.bcm.edu	37	chr7	134264286	134264286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttggaggactttcccttCgatgcagaatattgaggttg	11	7	0	2	rs6467538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:134264286C>T	ENST00000457545.2	+	12	1280	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	AKR1B15_ENST00000423958.1_Silent_p.F312F	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	340							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACTTTCCCTTCGATGCAGAAT	0.408													C|||	1681	0.335663	0.559	0.3084	5008	,	,		20009	0.1438		0.339	False		,,,				2504	0.2474				p.F340F		Atlas-SNP	.											.	AKR1B15	105	.	0			c.C1020T						PASS	.	C		2235,2169	554.5+/-379.0	576,1083,543	87	88	87		1020	-1.6	0	7	dbSNP_116	87	2959,5641	449.5+/-362.1	520,1919,1861	no	coding-synonymous	AKR1B15	NM_001080538.2		1096,3002,2404	TT,TC,CC		34.407,49.2507,39.9416		340/345	134264286	5194,7810	2202	4300	6502	SO:0001819	synonymous_variant	441282	exon12			TCCCTTCGATGCA		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.1020C>T	7.37:g.134264286C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	110	65	0.590909	NM_001080538	C9J3V2	Silent	SNP	ENST00000457545.2	37	CCDS47715.2																																																																																			C|0.651;T|0.349	0.349	strong		0.408	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134264286	C	T	134264286	2	4	22	1	0	0	0	0	0	0	0	1	468	883	31	1		1	AKR1B15	7	134264286	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	382492	134264286	24874377	4473	9581										
TMEM140	55281	hgsc.bcm.edu	37	chr7	134849690	134849690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttactcatcctcttgcttaTagccatggctgtgttccctc	6	14	2	0	rs76023601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:134849690T>C	ENST00000275767.3	+	2	720	c.497T>C	c.(496-498)aTa>aCa	p.I166T	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	166						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						CTCTTGCTTATAGCCATGGCT	0.567													T|||	9	0.00179712	0.0061	0.0	5008	,	,		20525	0.001		0.0	False		,,,				2504	0.0				p.I166T		Atlas-SNP	.											.	TMEM140	18	.	0			c.T497C						PASS	.	T	THR/ILE	27,4379	30.8+/-60.4	0,27,2176	48	48	48		497	0.2	0	7	dbSNP_131	48	0,8600		0,0,4300	yes	missense	TMEM140	NM_018295.3	89	0,27,6476	CC,CT,TT		0.0,0.6128,0.2076	benign	166/186	134849690	27,12979	2203	4300	6503	SO:0001583	missense	55281	exon2			TGCTTATAGCCAT	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.497T>C	7.37:g.134849690T>C	ENSP00000275767:p.Ile166Thr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	214	98	0.457944	NM_018295	A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	CCDS5837.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	T	11.24	1.579014	0.28180	0.006128	0.0	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.20069	2.1	5.28	0.166	0.14999	.	1.753430	0.02512	N	0.091627	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28618	-1.0038	10	0.62326	D	0.03	-1.1492	5.0072	0.14293	0.0:0.1578:0.2972:0.545	.	166	Q9NV12	TM140_HUMAN	T	166;129	ENSP00000275767:I166T	ENSP00000275767:I166T	I	+	2	0	TMEM140	134500230	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.605000	0.24179	-0.098000	0.12285	-0.258000	0.10820	ATA	T|0.998;C|0.002	0.002	strong		0.567	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		C	134849690	T	C	134849690	3	2	22	1	0	0	0	0	1	0	0	0	16052	1406	49	2	499	2	TMEM140	7	134849690	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	585404	134849690	24288973	4474	9582										
MTPN	136319	hgsc.bcm.edu	37	chr7	135614740	135614740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggtcagtccatctgggccTttcacagtcttatcagcacc	9	14	5	0	rs17168527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:135614740T>C	ENST00000393085.3	-	4	506	c.291A>G	c.(289-291)aaA>aaG	p.K97K	MTPN_ENST00000435723.1_Silent_p.K31K|AC015987.1_ENST00000419211.1_RNA|LUZP6_ENST00000589735.1_5'Flank	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	97					catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634)				endometrium(1)|lung(4)|prostate(1)	6						CATCTGGGCCTTTCACAGTCT	0.502													T|||	300	0.0599042	0.0976	0.0692	5008	,	,		15429	0.006		0.0825	False		,,,				2504	0.0348				p.K97K		Atlas-SNP	.											.	MTPN	10	.	0			c.A291G						PASS	.	T	,	456,3950	209.5+/-230.2	18,420,1765	167	134	145		,291	3.7	1	7	dbSNP_123	145	763,7837	173.3+/-223.8	44,675,3581	no	utr-5,coding-synonymous	MTPN,LUZP6	NM_001128619.1,NM_145808.3	,	62,1095,5346	CC,CT,TT		8.8721,10.3495,9.3726	,	,97/119	135614740	1219,11787	2203	4300	6503	SO:0001819	synonymous_variant	136319	exon4			TGGGCCTTTCACA	AC015987	CCDS5842.1	7q33-q35	2013-01-10			ENSG00000105887	ENSG00000105887		"Ankyrin repeat domain containing"	15667	protein-coding gene	gene with protein product	"granule cell differentiation protein"	606484				11474205	Standard	NM_145808		Approved	MYOTROPHIN, GCDP, V-1		P58546	OTTHUMG00000155627	ENST00000393085.3:c.291A>G	7.37:g.135614740T>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	58	31	0.534483	NM_145808		Silent	SNP	ENST00000393085.3	37	CCDS5842.1																																																																																			T|0.921;C|0.079	0.079	strong		0.502	MTPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340921.1	NM_145808		C	135614740	T	C	135614740	2	2	22	1	0	0	0	0	0	0	0	1	9957	1606	56	3		3	MTPN	7	135614740	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	765050	135614740	23523923	4475	9583										
DGKI	9162	hgsc.bcm.edu	37	chr7	137128830	137128830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgattcttaccatgatcTtctgaagagactggtgacct	9	8	3	6	rs1918837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:137128830T>C	ENST00000288490.5	-	29	2778	c.2778A>G	c.(2776-2778)gaA>gaG	p.E926E	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.E908E|DGKI_ENST00000453654.2_Silent_p.E595E|DGKI_ENST00000424189.2_Silent_p.E939E	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	926					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						TACCATGATCTTCTGAAGAGA	0.299													T|||	2228	0.444888	0.2057	0.5274	5008	,	,		16450	0.6627		0.3598	False		,,,				2504	0.5726				p.E926E		Atlas-SNP	.											.	DGKI	335	.	0			c.A2778G						PASS	.	T		1016,3384	366.4+/-317.8	112,792,1296	58	56	57		2778	5.5	1	7	dbSNP_92	57	3044,5556	455.4+/-363.8	548,1948,1804	no	coding-synonymous	DGKI	NM_004717.2		660,2740,3100	CC,CT,TT		35.3953,23.0909,31.2308		926/1066	137128830	4060,8940	2200	4300	6500	SO:0001819	synonymous_variant	9162	exon29			ATGATCTTCTGAA	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.2778A>G	7.37:g.137128830T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_004717	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	CCDS5845.1																																																																																			T|0.641;C|0.359	0.359	strong		0.299	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		C	137128830	T	C	137128830	2	2	22	1	0	0	0	0	0	0	0	1	4471	1606	56	3		3	DGKI	7	137128830	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1514090	137128830	22009833	4476	9584										
DGKI	9162	hgsc.bcm.edu	37	chr7	137150665	137150665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacactcaccccgaggcttgTtccaccaccaggtcaggcat	8	17	2	0	rs35245703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:137150665T>C	ENST00000288490.5	-	27	2625	c.2625A>G	c.(2623-2625)gaA>gaG	p.E875E	DGKI_ENST00000446122.1_Silent_p.E857E|DGKI_ENST00000453654.2_Silent_p.E585E|DGKI_ENST00000424189.2_Silent_p.E888E	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	875					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						CCGAGGCTTGTTCCACCACCA	0.542													C|||	480	0.0958466	0.3555	0.013	5008	,	,		17525	0.0		0.001	False		,,,				2504	0.0				p.E875E		Atlas-SNP	.											.	DGKI	335	.	0			c.A2625G						PASS	.	C		1335,3071	695.8+/-406.0	210,915,1078	64	62	63		2625	2.9	1	7	dbSNP_126	63	5,8595	819.0+/-406.8	0,5,4295	no	coding-synonymous	DGKI	NM_004717.2		210,920,5373	CC,CT,TT		0.0581,30.2996,10.3029		875/1066	137150665	1340,11666	2203	4300	6503	SO:0001819	synonymous_variant	9162	exon27			GGCTTGTTCCACC	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.2625A>G	7.37:g.137150665T>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	76	28	0.368421	NM_004717	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	CCDS5845.1																																																																																			T|0.910;C|0.090	0.090	strong		0.542	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		C	137150665	T	C	137150665	2	2	22	1	0	0	0	0	0	0	0	1	4471	1722	60	2		2	DGKI	7	137150665	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21835	137150665	21987998	4477	9585										
DGKI	9162	hgsc.bcm.edu	37	chr7	137263067	137263067	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttgaatttctctggattTgcttctgtgaaagaggaaaa	10	5	2	3	rs61751966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:137263067T>A	ENST00000288490.5	-	16	1647	c.1647A>T	c.(1645-1647)gcA>gcT	p.A549A	DGKI_ENST00000424189.2_Silent_p.A549A|DGKI_ENST00000453654.2_Silent_p.A249A|DGKI_ENST00000446122.1_Silent_p.A549A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	549					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						TCTCTGGATTTGCTTCTGTGA	0.373													T|||	88	0.0175719	0.0325	0.0058	5008	,	,		19858	0.0		0.0089	False		,,,				2504	0.0327				p.A549A		Atlas-SNP	.											DGKI_ENST00000288490,NS,carcinoma,-2,2	DGKI	335	2	0			c.A1647T						PASS	.	T		99,4305	78.8+/-117.2	0,99,2103	67	68	68		1647	2.7	1	7	dbSNP_129	68	57,8541	35.9+/-90.5	1,55,4243	no	coding-synonymous	DGKI	NM_004717.2		1,154,6346	AA,AT,TT		0.6629,2.248,1.1998		549/1066	137263067	156,12846	2202	4299	6501	SO:0001819	synonymous_variant	9162	exon16			TGGATTTGCTTCT	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.1647A>T	7.37:g.137263067T>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	123	63	0.512195	NM_004717	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	CCDS5845.1																																																																																			T|0.987;A|0.013	0.013	strong		0.373	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137263067	T	A	137263067	2	1	22	1	0	0	0	0	0	0	0	1	4471	1799	63	5		5	DGKI	7	137263067	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112402	137263067	21875596	4478	9586										
ATP6V0A4	50617	hgsc.bcm.edu	37	chr7	138417642	138417642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatgtttgtagaggggtgCgttggaagagtcactgtagt	16	4	1	3	rs73730479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:138417642C>T	ENST00000310018.2	-	17	2170	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A630T|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A630T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	630					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAGAGGGGTGCGTTGGAAGAG	0.373													C|||	210	0.0419329	0.121	0.0245	5008	,	,		16608	0.0268		0.002	False		,,,				2504	0.0041				p.A630T		Atlas-SNP	.											.	ATP6V0A4	93	.	0			c.G1888A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	470,3936	220.0+/-237.6	22,426,1755	99	96	97		1888,1888,1888	1.5	0	7	dbSNP_130	97	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	58,58,58	22,432,6049	TT,TC,CC		0.0698,10.6673,3.6598	benign,benign,benign	630/841,630/841,630/841	138417642	476,12530	2203	4300	6503	SO:0001583	missense	50617	exon16			GGGGTGCGTTGGA	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1888G>A	7.37:g.138417642C>T	ENSP00000308122:p.Ala630Thr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	38	0.422222	NM_130841	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	92	0.04212454212454213	61	0.12398373983739837	9	0.024861878453038673	20	0.03496503496503497	2	0.002638522427440633	C	9.110	1.006311	0.19199	0.106673	6.98E-4	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85702	-2.02;-2.02;-2.02	5.88	1.49	0.22878	.	0.899723	0.09437	N	0.802370	T	0.02807	0.0084	L	0.37750	1.13	0.09310	N	1	P	0.47350	0.894	B	0.34452	0.183	T	0.01639	-1.1306	10	0.17369	T	0.5	-0.0025	8.1138	0.30930	0.0:0.5837:0.215:0.2013	.	630	Q9HBG4	VPP4_HUMAN	T	630	ENSP00000308122:A630T;ENSP00000376774:A630T;ENSP00000253856:A630T	ENSP00000308122:A630T	A	-	1	0	ATP6V0A4	138068182	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.199000	0.17237	0.383000	0.24910	0.655000	0.94253	GCA	C|0.963;T|0.037	0.037	strong		0.373	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		T	138417642	C	T	138417642	3	4	22	1	0	0	0	0	1	0	0	0	1170	768	27	1	658	1	ATP6V0A4	7	138417642	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1154575	138417642	20721021	4479	9587										
ATP6V0A4	50617	hgsc.bcm.edu	37	chr7	138417682	138417682	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaacagaaacatgttgatGaagtggatgaggatgctggg	14	3	0	4	rs143883618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:138417682G>A	ENST00000310018.2	-	17	2130	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	ATP6V0A4_ENST00000393054.1_Silent_p.F616F|ATP6V0A4_ENST00000353492.4_Silent_p.F616F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	616					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATGTTGATGAAGTGGATGA	0.398													G|||	24	0.00479233	0.0182	0.0	5008	,	,		17290	0.0		0.0	False		,,,				2504	0.0				p.F616F		Atlas-SNP	.											.	ATP6V0A4	93	.	0			c.C1848T						PASS	.	G	,,	74,4332	65.3+/-102.7	0,74,2129	116	110	112		1848,1848,1848	2.8	1	7	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	,,	0,74,6429	AA,AG,GG		0.0,1.6795,0.569	,,	616/841,616/841,616/841	138417682	74,12932	2203	4300	6503	SO:0001819	synonymous_variant	50617	exon16			GTTGATGAAGTGG	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1848C>T	7.37:g.138417682G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_130841	A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																			G|0.995;A|0.005	0.005	strong		0.398	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138417682	G	A	138417682	2	1	22	1	0	0	0	0	0	0	0	1	1170	1281	45	2		2	ATP6V0A4	7	138417682	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40	138417682	20720981	4480	9588										
ZC3HAV1L	92092	hgsc.bcm.edu	37	chr7	138713674	138713674	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaggttgcagtagccataCagggcttcccctttgttgta	11	9	0	1	rs7800990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:138713674C>G	ENST00000275766.1	-	3	545	c.534G>C	c.(532-534)ctG>ctC	p.L178L		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	178										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						AGTAGCCATACAGGGCTTCCC	0.433													G|||	185	0.0369409	0.1354	0.0072	5008	,	,		23164	0.0		0.001	False		,,,				2504	0.0				p.L178L		Atlas-SNP	.											.	ZC3HAV1L	15	.	0			c.G534C						PASS	.	G		554,3852	774.6+/-414.0	28,498,1677	71	69	70		534	-5.1	0	7	dbSNP_116	70	4,8596	819.0+/-406.8	0,4,4296	no	coding-synonymous	ZC3HAV1L	NM_080660.3		28,502,5973	GG,GC,CC		0.0465,12.5738,4.2903		178/301	138713674	558,12448	2203	4300	6503	SO:0001819	synonymous_variant	92092	exon3			GCCATACAGGGCT	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 39"	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.534G>C	7.37:g.138713674C>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_080660	Q8WUD9	Silent	SNP	ENST00000275766.1	37	CCDS5850.1																																																																																			C|0.961;G|0.039	0.039	strong		0.433	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		G	138713674	C	G	138713674	2	3	22	1	0	0	0	0	0	0	0	1	17573	465	17	4		4	ZC3HAV1L	7	138713674	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	295992	138713674	20424989	4481	9589										
ZC3HAV1	56829	hgsc.bcm.edu	37	chr7	138738204	138738204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccggcactaaccttttccGtatttgttttcatgagtttc	6	11	1	1	rs11977775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:138738204G>A	ENST00000242351.5	-	12	2758	c.2442C>T	c.(2440-2442)taC>taT	p.Y814Y	ZC3HAV1_ENST00000464606.1_Silent_p.Y936Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	814	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AACCTTTTCCGTATTTGTTTT	0.363													A|||	517	0.103235	0.2897	0.0504	5008	,	,		20828	0.0248		0.0338	False		,,,				2504	0.0409				p.Y814Y		Atlas-SNP	.											.	ZC3HAV1	75	.	0			c.C2442T						PASS	.	A		1173,3233	711.4+/-408.0	153,867,1183	119	123	121		2442	0.2	1	7	dbSNP_120	121	231,8369	808.7+/-407.2	1,229,4070	no	coding-synonymous	ZC3HAV1	NM_020119.3		154,1096,5253	AA,AG,GG		2.686,26.6228,10.795		814/903	138738204	1404,11602	2203	4300	6503	SO:0001819	synonymous_variant	56829	exon12			TTTTCCGTATTTG	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2442C>T	7.37:g.138738204G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	102	32	0.313726	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																			G|0.898;A|0.102	0.102	strong		0.363	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138738204	G	A	138738204	2	1	22	1	0	0	0	0	0	0	0	1	17572	1140	40	1		1	ZC3HAV1	7	138738204	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24530	138738204	20400459	4482	9590										
LUC7L2	100996928	hgsc.bcm.edu	37	chr7	139090515	139090515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtagagaaagcacgggcAaagaaaagagaagcagaggt	15	4	0	4	rs74758604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:139090515A>G	ENST00000354926.4	+	5	846	c.492A>G	c.(490-492)gcA>gcG	p.A164A	LUC7L2_ENST00000541515.3_Silent_p.A230A|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.A161A|C7orf55-LUC7L2_ENST00000263545.6_Silent_p.A163A	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AAGCACGGGCAAAGAAAAGAG	0.368													A|||	80	0.0159744	0.0582	0.0029	5008	,	,		17933	0.0		0.001	False		,,,				2504	0.0				p.A230A		Atlas-SNP	.											LUC7L2,NS,carcinoma,+2,1	.	.	1	0			c.A690G						PASS	.	A		171,3519		5,161,1679	100	103	102		492	1.4	1	7	dbSNP_132	102	1,8165		0,1,4082	no	coding-synonymous	LUC7L2	NM_016019.3		5,162,5761	GG,GA,AA		0.0122,4.6341,1.4507		164/393	139090515	172,11684	1845	4083	5928	SO:0001819	synonymous_variant	100996928	exon6			ACGGGCAAAGAAA		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.492A>G	7.37:g.139090515A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	133	62	0.466165	NM_001244584		Silent	SNP	ENST00000354926.4	37	CCDS43656.1																																																																																			A|0.981;G|0.019	0.019	strong		0.368	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			G	139090515	A	G	139090515	2	3	22	1	0	0	0	0	0	0	0	1	9083	117	5	2		2	LUC7L2	7	139090515	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	352311	139090515	20048148	4483	9591										
CLEC2L	154790	hgsc.bcm.edu	37	chr7	139225215	139225215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcggtgctggctgtgatTcagagccagaaggagctggt	18	7	1	3	rs112553913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:139225215T>C	ENST00000422142.2	+	3	486	c.414T>C	c.(412-414)atT>atC	p.I138I		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TGGCTGTGATTCAGAGCCAGA	0.592													T|||	149	0.0297524	0.1097	0.0014	5008	,	,		17539	0.0		0.003	False		,,,				2504	0.0				p.I138I		Atlas-SNP	.											.	CLEC2L	14	.	0			c.T414C						PASS	.	T		311,3699		9,293,1703	13	17	16		414	-4.7	1	7	dbSNP_132	16	7,8351		0,7,4172	no	coding-synonymous	CLEC2L	NM_001080511.2		9,300,5875	CC,CT,TT		0.0838,7.7556,2.5712		138/215	139225215	318,12050	2005	4179	6184	SO:0001819	synonymous_variant	154790	exon3			TGTGATTCAGAGC	AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"C-type lectin domain containing"	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.414T>C	7.37:g.139225215T>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	126	67	0.531746	NM_001080511		Silent	SNP	ENST00000422142.2	37	CCDS47724.1	60	0.027472527472527472	58	0.11788617886178862	0	0.0	0	0.0	2	0.002638522427440633	T	9.732	1.162489	0.21538	0.077556	8.38E-4	ENSG00000236279	ENST00000521281	.	.	.	4.81	-4.68	0.03309	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33599	-0.9862	4	.	.	.	-13.0213	11.495	0.50402	0.0:0.2389:0.0:0.7611	.	.	.	.	S	62	.	.	F	+	2	0	CLEC2L	138875755	0.368000	0.25031	0.986000	0.45419	0.949000	0.60115	-1.179000	0.03090	-0.764000	0.04651	-0.376000	0.06991	TTC	T|0.972;C|0.028	0.028	strong		0.592	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		C	139225215	T	C	139225215	2	2	22	1	0	0	0	0	0	0	0	1	3509	1771	62	2		2	CLEC2L	7	139225215	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	134700	139225215	19913448	4484	9592										
TBXAS1	6916	hgsc.bcm.edu	37	chr7	139661964	139661964	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactttcttttgccacctacCtactggccaccaaccctgac	4	18	1	1	rs4529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:139661964C>G	ENST00000336425.5	+	13	1455	c.1066C>G	c.(1066-1068)Cta>Gta	p.L356V	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L403V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.L289V|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L357V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L356V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L356V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L402V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L357V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L357V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	356			L -> V (in allele CYP5A1*5; dbSNP:rs4529). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:11465543}.		arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCCACCTACCTACTGGCCAC	0.502													C|||	209	0.0417332	0.1543	0.0058	5008	,	,		18923	0.0		0.001	False		,,,				2504	0.0				p.L403V		Atlas-SNP	.											.	TBXAS1	121	.	0			c.C1207G						PASS	.	C	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	512,3894	236.1+/-248.4	24,464,1715	111	98	102		1069,1069,1207,865,1069	4.2	1	7	dbSNP_52	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	32,32,32,32,32	24,467,6012	GG,GC,CC		0.0349,11.6205,3.9597	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	357/535,357/535,403/581,289/467,357/461	139661964	515,12491	2203	4300	6503	SO:0001583	missense	6916	exon10			ACCTACCTACTGG	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1066C>G	7.37:g.139661964C>G	ENSP00000338087:p.Leu356Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	114	55	0.482456	NM_001166253	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		66	0.03021978021978022	62	0.12601626016260162	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	16.28	3.079361	0.55753	0.116205	3.49E-4	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.98	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	M	0.71920	2.185	0.80722	D	1	P;D;P;D;P;P;P	0.63880	0.937;0.993;0.85;0.992;0.878;0.923;0.923	P;D;P;P;P;P;P	0.65573	0.896;0.936;0.775;0.811;0.722;0.696;0.696	T	0.46076	-0.9217	10	0.18276	T	0.48	.	5.3733	0.16152	0.2612:0.5412:0.1263:0.0712	rs4529;rs52804680;rs57867324;rs4529	337;403;308;289;357;357;356	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	V	289;357;356;403;357;357;356;402;356	ENSP00000388736:L289V;ENSP00000263552:L357V;ENSP00000338087:L356V;ENSP00000389414:L403V;ENSP00000392361:L357V;ENSP00000392702:L357V;ENSP00000402536:L356V;ENSP00000411274:L402V;ENSP00000411326:L356V	ENSP00000263552:L357V	L	+	1	2	TBXAS1	139308433	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.191000	0.42640	0.826000	0.34661	0.655000	0.94253	CTA	C|0.953;G|0.047	0.047	strong		0.502	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			G	139661964	C	G	139661964	3	3	22	1	0	0	0	0	1	0	0	0	15661	680	24	4	1245	4	TBXAS1	7	139661964	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	436749	139661964	19476699	4485	9593										
PARP12	64761	hgsc.bcm.edu	37	chr7	139724555	139724555	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagccctccttggccggCggacggacaaaggaggcatt	13	14	0	0	rs3735352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:139724555C>G	ENST00000263549.3	-	12	2784	c.1911G>C	c.(1909-1911)ccG>ccC	p.P637P		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	637	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCTTGGCCGGCGGACGGACAA	0.592													G|||	368	0.0734824	0.205	0.0389	5008	,	,		19852	0.0		0.0408	False		,,,				2504	0.0297				p.P637P		Atlas-SNP	.											.	PARP12	59	.	0			c.G1911C						PASS	.						111	93	99					7																	139724555		2203	4300	6503	SO:0001819	synonymous_variant	64761	exon12			GGCCGGCGGACGG	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1911G>C	7.37:g.139724555C>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	135	68	0.503704	NM_022750	Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																			T|0.364;G|0.008;C|0.628	0.008	strong		0.592	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		G	139724555	C	G	139724555	2	3	22	1	0	0	0	0	0	0	0	1	11457	755	27	4		4	PARP12	7	139724555	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62591	139724555	19414108	4486	9594										
PARP12	64761	hgsc.bcm.edu	37	chr7	139746793	139746793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacggcaaatggaaatgaaCtctatggcacttatctgaaa	8	7	2	2	rs34111764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:139746793C>T	ENST00000263549.3	-	5	1750	c.877G>A	c.(877-879)Gtt>Att	p.V293I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	293			V -> I (in dbSNP:rs34111764).			nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGGAAATGAACTCTATGGCAC	0.433													C|||	490	0.0978435	0.298	0.0375	5008	,	,		20477	0.0		0.0408	False		,,,				2504	0.0297				p.V293I		Atlas-SNP	.											.	PARP12	59	.	0			c.G877A						PASS	.	C	ILE/VAL	1162,3244	412.4+/-336.1	165,832,1206	118	105	110		877	3.7	0.7	7	dbSNP_126	110	383,8217	124.1+/-182.9	13,357,3930	yes	missense	PARP12	NM_022750.2	29	178,1189,5136	TT,TC,CC		4.4535,26.3731,11.8791	possibly-damaging	293/702	139746793	1545,11461	2203	4300	6503	SO:0001583	missense	64761	exon5			AATGAACTCTATG	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.877G>A	7.37:g.139746793C>T	ENSP00000263549:p.Val293Ile	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	111	53	0.477477	NM_022750	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	166	0.076007326007326	127	0.258130081300813	11	0.03038674033149171	0	0.0	28	0.036939313984168866	C	9.431	1.085463	0.20390	0.263731	0.044535	ENSG00000059378	ENST00000263549	T	0.07114	3.22	5.56	3.67	0.42095	WWE domain (1);Zinc finger, CCCH-type (2);	0.355683	0.29846	N	0.011057	T	0.00012	0.0000	L	0.53561	1.675	0.52099	P	5.599999999994498E-5	P	0.40360	0.714	B	0.39027	0.288	T	0.50145	-0.8862	9	0.25106	T	0.35	.	9.9843	0.41832	0.0:0.7508:0.0:0.2492	rs34111764	293	Q9H0J9	PAR12_HUMAN	I	293	ENSP00000263549:V293I	ENSP00000263549:V293I	V	-	1	0	PARP12	139393262	0.991000	0.36638	0.727000	0.30756	0.195000	0.23768	2.699000	0.47077	0.756000	0.33013	-0.390000	0.06520	GTT	C|0.893;T|0.107	0.107	strong		0.433	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139746793	C	T	139746793	3	4	22	1	0	0	0	0	1	0	0	0	11457	565	20	2	1260	2	PARP12	7	139746793	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22238	139746793	19391870	4487	9595										
SLC37A3	84255	hgsc.bcm.edu	37	chr7	140048445	140048445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatgatccctccaacgtcGtaccaaatggacagcttgtc	7	14	0	1	rs73472776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140048445G>A	ENST00000326232.9	-	10	1208	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Silent_p.Y335Y|SLC37A3_ENST00000340308.3_Silent_p.Y335Y	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	335					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTCCAACGTCGTACCAAATGG	0.443													G|||	156	0.0311502	0.1104	0.0144	5008	,	,		17310	0.0		0.0	False		,,,				2504	0.0				p.Y335Y	Esophageal Squamous(133;211 1716 4665 11387 37873)	Atlas-SNP	.											.	SLC37A3	80	.	0			c.C1005T						PASS	.	G	,	461,3945	220.4+/-237.8	24,413,1766	129	119	123		1005,1005	2	1	7	dbSNP_130	123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	SLC37A3	NM_032295.2,NM_207113.1	,	24,416,6063	AA,AG,GG		0.0349,10.463,3.5676	,	335/444,335/495	140048445	464,12542	2203	4300	6503	SO:0001819	synonymous_variant	84255	exon10			AACGTCGTACCAA	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1005C>T	7.37:g.140048445G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Silent	SNP	ENST00000326232.9	37	CCDS5859.1	61	0.027930402930402932	57	0.11585365853658537	4	0.011049723756906077	0	0.0	0	0.0	G	8.221	0.802514	0.16397	0.10463	3.49E-4	ENSG00000157800	ENST00000485734;ENST00000485861	.	.	.	5.26	2.05	0.26809	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00386	-1.1772	4	.	.	.	-14.7147	6.5083	0.22208	0.4561:0.0:0.5439:0.0	.	.	.	.	M	114;172	.	.	T	-	2	0	SLC37A3	139694914	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.648000	0.24828	0.613000	0.30089	0.462000	0.41574	ACG	G|0.961;A|0.039	0.039	strong		0.443	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		A	140048445	G	A	140048445	2	1	22	1	0	0	0	0	0	0	0	1	14599	1140	40	1		1	SLC37A3	7	140048445	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	301652	140048445	19090218	4488	9596										
SLC37A3	84255	hgsc.bcm.edu	37	chr7	140051116	140051116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcctggtagaagcttatcGccttgacttgggcaacagaa	11	9	0	3	rs76089276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140051116G>A	ENST00000326232.9	-	9	1042	c.839C>T	c.(838-840)gCg>gTg	p.A280V	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A280V|SLC37A3_ENST00000340308.3_Missense_Mutation_p.A280V	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	280					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GAAGCTTATCGCCTTGACTTG	0.468													G|||	167	0.0333466	0.1188	0.0115	5008	,	,		20455	0.0		0.002	False		,,,				2504	0.0				p.A280V	Esophageal Squamous(133;211 1716 4665 11387 37873)	Atlas-SNP	.											.	SLC37A3	80	.	0			c.C839T						PASS	.	G	VAL/ALA,VAL/ALA	454,3952	216.4+/-235.1	19,416,1768	152	129	137		839,839	5.2	1	7	dbSNP_131	137	8,8592	5.0+/-18.6	0,8,4292	yes	missense,missense	SLC37A3	NM_032295.2,NM_207113.1	64,64	19,424,6060	AA,AG,GG		0.093,10.3041,3.5522	probably-damaging,probably-damaging	280/444,280/495	140051116	462,12544	2203	4300	6503	SO:0001583	missense	84255	exon9			CTTATCGCCTTGA	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.839C>T	7.37:g.140051116G>A	ENSP00000321498:p.Ala280Val	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	187	83	0.44385	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	71|71	0.03250915750915751|0.03250915750915751	66|66	0.13414634146341464|0.13414634146341464	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	20.6|20.6	4.022383|4.022383	0.75275|0.75275	0.103041|0.103041	9.3E-4|9.3E-4	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.58060|.	0.36;0.36;0.36|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.04407|.	0.0121|.	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79108|.	0.981;0.992;0.979|.	T|.	0.49716|.	-0.8910|.	10|.	0.62326|.	D|.	0.03|.	-43.077|-43.077	18.7136|18.7136	0.91667|0.91667	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	280;280;280|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	V|X	280|59	ENSP00000343358:A280V;ENSP00000397481:A280V;ENSP00000321498:A280V|.	ENSP00000321498:A280V|.	A|R	-|-	2|1	0|2	SLC37A3|SLC37A3	139697585|139697585	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.262000|0.262000	0.26303|0.26303	7.710000|7.710000	0.84655|0.84655	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	GCG|CGA	G|0.969;A|0.031	0.031	strong		0.468	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		A	140051116	G	A	140051116	3	1	22	1	0	0	0	0	1	0	0	0	14599	1087	38	1	822	1	SLC37A3	7	140051116	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2671	140051116	19087547	4489	9597										
RAB19	401409	hgsc.bcm.edu	37	chr7	140125878	140125878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatggggagagtgccctgaaCggcctccccctggactccag	13	14	0	2	rs4585665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140125878C>T	ENST00000356407.3	+	3	650	c.582C>T	c.(580-582)aaC>aaT	p.N194N	RAB19_ENST00000275874.5_Silent_p.N241N|RAB19_ENST00000537763.1_Silent_p.N194N			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	194					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GTGCCCTGAACGGCCTCCCCC	0.562													C|||	61	0.0121805	0.0439	0.0043	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.0				p.N194N		Atlas-SNP	.											.	RAB19	21	.	0			c.C582T						PASS	.	C		126,4280	93.0+/-131.7	2,122,2079	77	72	74		582	0.4	0	7	dbSNP_111	74	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	RAB19	NM_001008749.2		2,124,6377	TT,TC,CC		0.0233,2.8597,0.9842		194/218	140125878	128,12878	2203	4300	6503	SO:0001819	synonymous_variant	401409	exon4			CCTGAACGGCCTC		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.582C>T	7.37:g.140125878C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_001008749	A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	ENST00000356407.3	37	CCDS34762.2																																																																																			C|0.989;T|0.011	0.011	strong		0.562	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			T	140125878	C	T	140125878	2	4	22	1	0	0	0	0	0	0	0	1	12904	535	19	1		1	RAB19	7	140125878	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74762	140125878	19012785	4490	9598										
MKRN1	23608	hgsc.bcm.edu	37	chr7	140158960	140158960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgcttctttgtctccacGgcggtttgctctttctctga	9	12	4	1	rs61736379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140158960G>A	ENST00000255977.2	-	4	842	c.618C>T	c.(616-618)gcC>gcT	p.A206A	MKRN1_ENST00000474576.1_Silent_p.A142A|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000443720.2_Silent_p.A206A|MKRN1_ENST00000437223.2_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	206					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TTGTCTCCACGGCGGTTTGCT	0.537													g|||	32	0.00638978	0.0227	0.0029	5008	,	,		17416	0.0		0.0	False		,,,				2504	0.0				p.A206A		Atlas-SNP	.											.	MKRN1	35	.	0			c.C618T						PASS	.	G	,	83,4323	70.9+/-108.8	1,81,2121	133	130	131		618,618	-9.8	0	7	dbSNP_129	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKRN1	NM_001145125.1,NM_013446.3	,	1,81,6421	AA,AG,GG		0.0,1.8838,0.6382	,	206/330,206/483	140158960	83,12923	2203	4300	6503	SO:0001819	synonymous_variant	23608	exon4			CTCCACGGCGGTT	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.618C>T	7.37:g.140158960G>A		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	260	125	0.480769	NM_013446	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	CCDS5860.1																																																																																			G|0.993;A|0.007	0.007	strong		0.537	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		A	140158960	G	A	140158960	2	1	22	1	0	0	0	0	0	0	0	1	9606	1103	39	1		1	MKRN1	7	140158960	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33082	140158960	18979703	4491	9599										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140221878	140221878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcttcagacaccacctcGttcaaggggctggactctgg	12	12	3	1	rs61737088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140221878G>A	ENST00000275884.6	-	17	3105	c.2688C>T	c.(2686-2688)aaC>aaT	p.N896N	DENND2A_ENST00000496613.1_Silent_p.N896N|DENND2A_ENST00000537639.1_Silent_p.N896N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	896	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACACCACCTCGTTCAAGGGGC	0.582													G|||	62	0.0123802	0.0446	0.0029	5008	,	,		15621	0.0		0.001	False		,,,				2504	0.0				p.N896N		Atlas-SNP	.											.	DENND2A	132	.	0			c.C2688T						PASS	.	G		141,3909		3,135,1887	49	53	52		2688	-3.1	0.7	7	dbSNP_129	52	3,8365		0,3,4181	no	coding-synonymous	DENND2A	NM_015689.3		3,138,6068	AA,AG,GG		0.0359,3.4815,1.1596		896/1010	140221878	144,12274	2025	4184	6209	SO:0001819	synonymous_variant	27147	exon16			CACCTCGTTCAAG	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2688C>T	7.37:g.140221878G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			G|0.993;A|0.007	0.007	strong		0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		A	140221878	G	A	140221878	2	1	22	1	0	0	0	0	0	0	0	1	4429	1136	40	1		1	DENND2A	7	140221878	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62918	140221878	18916785	4492	9600										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140225578	140225578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaccggctgttgacgagGtcaaccacaaggacctatga	12	10	1	2	rs61737086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140225578G>A	ENST00000275884.6	-	15	2937	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D	DENND2A_ENST00000496613.1_Silent_p.D840D|DENND2A_ENST00000537639.1_Silent_p.D840D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	840	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTTGACGAGGTCAACCACAA	0.537													G|||	248	0.0495208	0.171	0.0101	5008	,	,		18548	0.0		0.0	False		,,,				2504	0.0153				p.D840D		Atlas-SNP	.											.	DENND2A	132	.	0			c.C2520T						PASS	.	G		507,3455		30,447,1504	49	53	52		2520	2.6	1	7	dbSNP_129	52	4,8336		0,4,4166	no	coding-synonymous	DENND2A	NM_015689.3		30,451,5670	AA,AG,GG		0.048,12.7966,4.1538		840/1010	140225578	511,11791	1981	4170	6151	SO:0001819	synonymous_variant	27147	exon14			GACGAGGTCAACC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2520C>T	7.37:g.140225578G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	111	60	0.540541	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			G|0.968;A|0.032	0.032	strong		0.537	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		A	140225578	G	A	140225578	2	1	22	1	0	0	0	0	0	0	0	1	4429	1252	44	2		2	DENND2A	7	140225578	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3700	140225578	18913085	4493	9601										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140227184	140227184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgatgaggaagggcgtCggcgagcacacgatgtcgac	16	11	0	1	rs76760136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140227184C>T	ENST00000275884.6	-	14	2856	c.2439G>A	c.(2437-2439)ccG>ccA	p.P813P	DENND2A_ENST00000496613.1_Silent_p.P813P|DENND2A_ENST00000537639.1_Silent_p.P813P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	813	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGAAGGGCGTCGGCGAGCACA	0.672													C|||	35	0.00698882	0.0257	0.0014	5008	,	,		17558	0.0		0.0	False		,,,				2504	0.0				p.P813P		Atlas-SNP	.											.	DENND2A	132	.	0			c.G2439A						PASS	.	C		59,4119		0,59,2030	12	18	16		2439	-2.2	0.4	7	dbSNP_132	16	0,8420		0,0,4210	no	coding-synonymous	DENND2A	NM_015689.3		0,59,6240	TT,TC,CC		0.0,1.4122,0.4683		813/1010	140227184	59,12539	2089	4210	6299	SO:0001819	synonymous_variant	27147	exon13			GGGCGTCGGCGAG	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2439G>A	7.37:g.140227184C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	209	113	0.54067	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	10.80	1.452752	0.26074	0.014122	0.0	ENSG00000146966	ENST00000469373	T	0.36340	1.26	5.04	-2.21	0.06973	.	.	.	.	.	T	0.29458	0.0734	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	6	0.87932	D	0	-17.1724	10.9649	0.47406	0.0:0.2873:0.2046:0.5082	.	.	.	.	Q	141	ENSP00000420145:R141Q	ENSP00000417673:R794Q	R	-	2	0	DENND2A	139873653	0.155000	0.22806	0.413000	0.26509	0.012000	0.07955	-0.761000	0.04751	-0.836000	0.04229	-1.134000	0.01955	CGA	C|0.995;T|0.005	0.005	strong		0.672	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140227184	C	T	140227184	2	4	22	1	0	0	0	0	0	0	0	1	4429	871	31	1		1	DENND2A	7	140227184	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1606	140227184	18911479	4494	9602										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140227293	140227293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggcagcacttggacaggAtgctgcagccggggagagaa	17	9	0	1	rs6464833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140227293A>G	ENST00000275884.6	-	14	2747	c.2330T>C	c.(2329-2331)aTc>aCc	p.I777T	DENND2A_ENST00000496613.1_Missense_Mutation_p.I777T|DENND2A_ENST00000537639.1_Missense_Mutation_p.I777T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	777	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.		I -> T (in dbSNP:rs6464833).		positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTGGACAGGATGCTGCAGCC	0.647													G|||	849	0.169529	0.4682	0.0778	5008	,	,		15675	0.0069		0.0785	False		,,,				2504	0.092				p.I777T		Atlas-SNP	.											.	DENND2A	132	.	0			c.T2330C						PASS	.	G	THR/ILE	1537,2653		298,941,856	13	19	17		2330	4.8	1	7	dbSNP_116	17	698,7764		36,626,3569	yes	missense	DENND2A	NM_015689.3	89	334,1567,4425	GG,GA,AA		8.2486,36.6826,17.6652	benign	777/1010	140227293	2235,10417	2095	4231	6326	SO:0001583	missense	27147	exon13			GACAGGATGCTGC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2330T>C	7.37:g.140227293A>G	ENSP00000275884:p.Ile777Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	82	82	1	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	317	0.14514652014652016	226	0.45934959349593496	29	0.08011049723756906	2	0.0034965034965034965	60	0.079155672823219	G	8.282	0.815778	0.16607	0.366826	0.082486	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613	T;T;T	0.10860	2.83;2.83;2.83	4.83	4.83	0.62350	DENN (3);	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00368	-1.59	0.39604	P	0.030217999999999967	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	9	0.02654	T	1	-13.0039	13.2808	0.60212	0.0769:0.0:0.9231:0.0	rs6464833;rs10355571;rs56455864;rs60863036;rs6464833	777	Q9ULE3	DEN2A_HUMAN	T	777	ENSP00000275884:I777T;ENSP00000442245:I777T;ENSP00000419654:I777T	ENSP00000275884:I777T	I	-	2	0	DENND2A	139873762	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.300000	0.78841	1.035000	0.39972	-0.215000	0.12644	ATC	A|0.830;G|0.170	0.170	strong		0.647	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		G	140227293	A	G	140227293	3	3	22	1	0	0	0	0	1	0	0	0	4429	333	12	2	723	2	DENND2A	7	140227293	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	109	140227293	18911370	4495	9603										
DENND2A	27147	hgsc.bcm.edu	37	chr7	140244560	140244560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagcgggcggcacagttCgatcacctgccagggaacag	14	13	1	0	rs2293177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140244560C>T	ENST00000275884.6	-	13	2602	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	DENND2A_ENST00000492720.1_Missense_Mutation_p.E729K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E729K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E729K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	729	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.		E -> K (in dbSNP:rs2293177).		positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGGCACAGTTCGATCACCTGC	0.642													C|||	1298	0.259185	0.2776	0.2723	5008	,	,		13210	0.1389		0.3191	False		,,,				2504	0.2873				p.E729K		Atlas-SNP	.											.	DENND2A	132	.	0			c.G2185A						PASS	.	C	LYS/GLU	1190,3148		184,822,1163	14	19	17		2185	4.2	0.9	7	dbSNP_100	17	2612,5954		416,1780,2087	yes	missense	DENND2A	NM_015689.3	56	600,2602,3250	TT,TC,CC		30.4926,27.432,29.4637	benign	729/1010	140244560	3802,9102	2169	4283	6452	SO:0001583	missense	27147	exon12			ACAGTTCGATCAC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2185G>A	7.37:g.140244560C>T	ENSP00000275884:p.Glu729Lys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	85	26	0.305882	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	512	0.23443223443223443	112	0.22764227642276422	92	0.2541436464088398	71	0.12412587412587413	237	0.31266490765171506	C	22.6	4.306822	0.81247	0.27432	0.304926	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	5.1	4.22	0.49857	DENN (3);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.74881	2.28	0.09310	P	0.99999483753	B;B	0.24092	0.097;0.068	B;B	0.35312	0.025;0.2	T	0.40590	-0.9555	9	0.39692	T	0.17	-17.0605	14.0959	0.65021	0.0:0.9275:0.0:0.0725	rs2293177;rs9655589;rs10378074;rs17695200;rs57420875;rs2293177	729;729	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	729;729;729;76;729	ENSP00000275884:E729K;ENSP00000442245:E729K;ENSP00000419654:E729K;ENSP00000420145:E76K;ENSP00000419464:E729K	ENSP00000275884:E729K	E	-	1	0	DENND2A	139891029	1.000000	0.71417	0.943000	0.38184	0.994000	0.84299	4.769000	0.62300	1.383000	0.46405	0.650000	0.86243	GAA	C|0.758;T|0.242	0.242	strong		0.642	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140244560	C	T	140244560	3	4	22	1	0	0	0	0	1	0	0	0	4429	893	31	1	872	1	DENND2A	7	140244560	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17267	140244560	18894103	4496	9604										
ADCK2	90956	hgsc.bcm.edu	37	chr7	140373326	140373326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggggcccctgacgttctgAgtcggcgaagggtccgctgc	17	12	1	2	rs2968558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140373326A>G	ENST00000072869.4	+	1	374	c.196A>G	c.(196-198)Agt>Ggt	p.S66G	ADCK2_ENST00000476491.1_Missense_Mutation_p.S66G	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	66			S -> G (in dbSNP:rs2968558).			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGACGTTCTGAGTCGGCGAAG	0.726													G|||	1586	0.316693	0.7163	0.219	5008	,	,		11219	0.1071		0.1133	False		,,,				2504	0.271				p.S66G		Atlas-SNP	.											.	ADCK2	37	.	0			c.A196G						PASS	.	G	GLY/SER	2627,1749		811,1005,372	14	16	15		196	-4.9	0	7	dbSNP_101	15	857,7691		55,747,3472	yes	missense	ADCK2	NM_052853.3	56	866,1752,3844	GG,GA,AA		10.0257,39.968,26.9576	benign	66/627	140373326	3484,9440	2188	4274	6462	SO:0001583	missense	90956	exon1			GTTCTGAGTCGGC	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.196A>G	7.37:g.140373326A>G	ENSP00000072869:p.Ser66Gly	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_052853	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	546	0.25	341	0.693089430894309	64	0.17679558011049723	57	0.09965034965034965	84	0.11081794195250659	G	6.626	0.483865	0.12581	0.60032	0.100257	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.45276	0.9;0.9	4.11	-4.94	0.03057	.	0.667670	0.13198	N	0.406203	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37126	-0.9719	9	0.13108	T	0.6	-22.6628	3.311	0.07016	0.0947:0.2375:0.4012:0.2666	rs2968558;rs11540283;rs60835851	66;66	C9JE15;Q7Z695	.;ADCK2_HUMAN	G	66	ENSP00000072869:S66G;ENSP00000420512:S66G	ENSP00000072869:S66G	S	+	1	0	ADCK2	140019795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.288000	0.08377	-0.902000	0.03886	-1.464000	0.01018	AGT	A|0.744;G|0.256	0.256	strong		0.726	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		G	140373326	A	G	140373326	3	3	22	1	0	0	0	0	1	0	0	0	289	304	11	3	198	3	ADCK2	7	140373326	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	128766	140373326	18765337	4497	9605										
ADCK2	90956	hgsc.bcm.edu	37	chr7	140374049	140374049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggccaccaacctcatcTccgtggcagtgaaagtaagt	10	12	2	2	rs1140034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140374049T>C	ENST00000072869.4	+	1	1097	c.919T>C	c.(919-921)Tcc>Ccc	p.S307P	ADCK2_ENST00000476491.1_Missense_Mutation_p.S307P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAACCTCATCTCCGTGGCAGT	0.557													C|||	1580	0.315495	0.7163	0.2118	5008	,	,		17427	0.1071		0.1123	False		,,,				2504	0.271				p.S307P		Atlas-SNP	.											.	ADCK2	37	.	0			c.T919C						PASS	.	C	PRO/SER	2749,1657	481.4+/-359.1	869,1011,323	44	47	46		919	4.1	0.8	7	dbSNP_86	46	894,7706	751.4+/-407.4	58,778,3464	yes	missense	ADCK2	NM_052853.3	74	927,1789,3787	CC,CT,TT		10.3953,37.6078,28.0101	benign	307/627	140374049	3643,9363	2203	4300	6503	SO:0001583	missense	90956	exon1			CTCATCTCCGTGG	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.919T>C	7.37:g.140374049T>C	ENSP00000072869:p.Ser307Pro	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	36	35	0.972222	NM_052853	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	546|546	0.25|0.25	341|341	0.693089430894309|0.693089430894309	64|64	0.17679558011049723|0.17679558011049723	57|57	0.09965034965034965|0.09965034965034965	84|84	0.11081794195250659|0.11081794195250659	C|C	4.131|4.131	0.022505|0.022505	0.08006|0.08006	0.623922|0.623922	0.103953|0.103953	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491	.|T;T	.|0.55760	.|0.5;0.5	4.06|4.06	4.06|4.06	0.47325|0.47325	.|ABC-1 (1);	.|0.222345	.|0.38326	.|N	.|0.001726	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00677|0.00677	-1.265|-1.265	0.53688|0.53688	P|P	2.1000000000048757E-5|2.1000000000048757E-5	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.44452|0.44452	-0.9327|-0.9327	4|9	.|0.02654	.|T	.|1	-10.3382|-10.3382	11.9728|11.9728	0.53073|0.53073	0.0:0.9153:0.0:0.0847|0.0:0.9153:0.0:0.0847	rs1140034;rs2968557;rs3204120;rs11540282;rs17400305;rs60137398;rs1140034|rs1140034;rs2968557;rs3204120;rs11540282;rs17400305;rs60137398;rs1140034	.|307;307	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	P|P	144|307	.|ENSP00000072869:S307P;ENSP00000420512:S307P	.|ENSP00000072869:S307P	L|S	+|+	2|1	0|0	ADCK2|ADCK2	140020518|140020518	0.994000|0.994000	0.37717|0.37717	0.754000|0.754000	0.31244|0.31244	0.549000|0.549000	0.35272|0.35272	2.580000|2.580000	0.46068|0.46068	0.953000|0.953000	0.37825|0.37825	-0.215000|-0.215000	0.12644|0.12644	CTC|TCC	T|0.719;C|0.281	0.281	strong		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		C	140374049	T	C	140374049	3	2	22	1	0	0	0	0	1	0	0	0	289	1551	54	3	921	3	ADCK2	7	140374049	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	723	140374049	18764614	4498	9606										
ADCK2	90956	hgsc.bcm.edu	37	chr7	140374482	140374482	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagattggcagccgagtcctGggagttttgccaggcatcaa	13	9	1	1	rs142577491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140374482G>C	ENST00000072869.4	+	2	1183	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L	ADCK2_ENST00000476491.1_Silent_p.L335L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	335	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCCGAGTCCTGGGAGTTTTGC	0.542													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		18388	0.0		0.0	False		,,,				2504	0.0				p.L335L		Atlas-SNP	.											.	ADCK2	37	.	0			c.G1005C						PASS	.	C		15,4391	823.8+/-416.5	0,15,2188	113	95	101		1005	-11.2	0	7	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous	ADCK2	NM_052853.3		0,15,6488	CC,CG,GG		0.0,0.3404,0.1153		335/627	140374482	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	90956	exon2			AGTCCTGGGAGTT	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1005G>C	7.37:g.140374482G>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	71	0.572581	NM_052853	Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	CCDS5861.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	8.385	0.838441	0.16891	0.003404	0.0	ENSG00000133597	ENST00000483369	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71537	-0.4563	4	.	.	.	-48.0441	14.5211	0.67851	0.0:0.1623:0.6463:0.1913	.	.	.	.	R	173	.	.	G	+	1	0	ADCK2	140020951	0.066000	0.20996	0.001000	0.08648	0.874000	0.50279	-0.756000	0.04777	-2.611000	0.00445	-1.093000	0.02169	GGG	G|0.999;C|0.001	0.001	strong		0.542	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		C	140374482	G	C	140374482	2	2	22	1	0	0	0	0	0	0	0	1	289	1335	47	4		4	ADCK2	7	140374482	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	433	140374482	18764181	4499	9607										
BRAF	673	hgsc.bcm.edu	37	chr7	140449150	140449150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaattcatacagaacaatTccaaatgcatatacatctga	3	9	3	2	rs9648696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140449150T>C	ENST00000288602.6	-	16	1989	c.1929A>G	c.(1927-1929)ggA>ggG	p.G643G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACAGAACAATTCCAAATGCAT	0.348		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				C|||	1758	0.351038	0.7451	0.1585	5008	,	,		17576	0.1825		0.1531	False		,,,				2504	0.3323				p.G643G	Colon(40;35 892 2973 5743 27438)	Atlas-SNP	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	BRAF	36346	.	0			c.A1929G						PASS	.	C		2904,1502	476.8+/-357.7	963,978,262	105	108	107		1929	2.1	1	7	dbSNP_119	107	1258,7342	758.6+/-407.5	114,1030,3156	no	coding-synonymous	BRAF	NM_004333.4		1077,2008,3418	CC,CT,TT		14.6279,34.0899,32.0006		643/767	140449150	4162,8844	2203	4300	6503	SO:0001819	synonymous_variant	673	exon16	Familial Cancer Database	CFC, CFCS	AACAATTCCAAAT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1929A>G	7.37:g.140449150T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	CCDS5863.1	611	0.27976190476190477	355	0.7215447154471545	58	0.16022099447513813	91	0.1590909090909091	107	0.14116094986807387	C	9.723	1.160251	0.21454	0.659101	0.146279	ENSG00000157764	ENST00000496384	.	.	.	5.02	2.11	0.27256	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.33317	-0.9873	3	.	.	.	.	5.8585	0.18732	0.0:0.5864:0.1264:0.2872	rs9648696;rs10238189;rs60896634	.	.	.	G	251	.	.	E	-	2	0	BRAF	140095619	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	1.503000	0.35715	-0.010000	0.14271	-0.355000	0.07637	GAA	T|0.696;C|0.304	0.304	strong		0.348	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140449150	T	C	140449150	2	2	22	1	0	0	0	0	0	0	0	1	1496	1770	62	2		2	BRAF	7	140449150	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74668	140449150	18689513	4500	9608										
BRAF	673	hgsc.bcm.edu	37	chr7	140481425	140481425	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatccagatccaattctTtgtcccactgtaatctgccc	5	13	2	2	rs56216404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:140481425T>C	ENST00000288602.6	-	11	1443	c.1383A>G	c.(1381-1383)caA>caG	p.Q461Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	461	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATCCAATTCTTTGTCCCACTG	0.393		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T|||	27	0.00539137	0.0204	0.0	5008	,	,		15131	0.0		0.0	False		,,,				2504	0.0				p.Q461Q	Colon(40;35 892 2973 5743 27438)	Atlas-SNP	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	BRAF	36346	.	0			c.A1383G						PASS	.	T		41,4365	43.1+/-76.7	0,41,2162	170	145	154		1383	-3.9	1	7	dbSNP_129	154	0,8596		0,0,4298	no	coding-synonymous	BRAF	NM_004333.4		0,41,6460	CC,CT,TT		0.0,0.9305,0.3153		461/767	140481425	41,12961	2203	4298	6501	SO:0001819	synonymous_variant	673	exon11	Familial Cancer Database	CFC, CFCS	AATTCTTTGTCCC	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1383A>G	7.37:g.140481425T>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	112	59	0.526786	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	CCDS5863.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	T	9.986	1.229394	0.22542	0.009305	0.0	ENSG00000157764	ENST00000496384	.	.	.	5.62	-3.94	0.04130	.	.	.	.	.	T	0.26593	0.0650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40887	-0.9539	4	.	.	.	.	7.9193	0.29837	0.1332:0.5351:0.0:0.3317	rs56216404;rs61730028	.	.	.	R	69	.	.	K	-	2	0	BRAF	140127894	0.871000	0.30034	0.970000	0.41538	0.993000	0.82548	-0.010000	0.12743	-0.751000	0.04734	-0.481000	0.04817	AAA	T|0.995;C|0.005	0.005	strong		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140481425	T	C	140481425	2	2	22	1	0	0	0	0	0	0	0	1	1496	1838	64	2		2	BRAF	7	140481425	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32275	140481425	18657238	4501	9609										
MGAM	8972	hgsc.bcm.edu	37	chr7	141719078	141719078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctactattccaagaatcAtagctaccatgtagagggca	9	9	1	2	rs114936410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141719078A>G	ENST00000549489.2	+	4	502	c.407A>G	c.(406-408)cAt>cGt	p.H136R	MGAM_ENST00000475668.2_Missense_Mutation_p.H136R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	136					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAAGAATCATAGCTACCAT	0.502													A|||	33	0.00658946	0.0234	0.0029	5008	,	,		18070	0.0		0.0	False		,,,				2504	0.0				p.H136R		Atlas-SNP	.											.	MGAM	767	.	0			c.A407G						PASS	.	A	ARG/HIS	70,4000		2,66,1967	86	90	89		407	3.7	1	7	dbSNP_132	89	0,8392		0,0,4196	yes	missense	MGAM	NM_004668.2	29	2,66,6163	GG,GA,AA		0.0,1.7199,0.5617	possibly-damaging	136/1858	141719078	70,12392	2035	4196	6231	SO:0001583	missense	8972	exon4			AGAATCATAGCTA	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.407A>G	7.37:g.141719078A>G	ENSP00000447378:p.His136Arg	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	38	15	0.394737	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	A	11.07	1.531130	0.27387	0.017199	0.0	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668;ENST00000548812	T;D;T	0.85339	-0.82;-1.97;0.55	4.85	3.7	0.42460	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (2);	0.276318	0.26251	N	0.025446	T	0.50752	0.1634	M	0.63843	1.955	0.32573	N	0.529585	P	0.44195	0.828	B	0.34385	0.181	T	0.74287	-0.3714	10	0.51188	T	0.08	.	8.8349	0.35107	0.9101:0.0:0.0899:0.0	.	136	O43451	MGA_HUMAN	R	136;136;136;136;13	ENSP00000419372:H136R;ENSP00000447378:H136R;ENSP00000417103:H136R	ENSP00000316431:H13R	H	+	2	0	MGAM	141365547	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	6.413000	0.73308	0.992000	0.38840	-0.476000	0.04901	CAT	A|0.990;G|0.010	0.010	strong		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			G	141719078	A	G	141719078	3	3	22	1	0	0	0	0	1	0	0	0	9541	217	8	2	417	2	MGAM	7	141719078	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1237653	141719078	17419585	4502	9610										
MGAM	8972	hgsc.bcm.edu	37	chr7	141736732	141736732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatacaccctcttcttccGtgctcacagccgaggggaca	8	16	3	0	rs116034282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141736732G>A	ENST00000549489.2	+	18	2281	c.2186G>A	c.(2185-2187)cGt>cAt	p.R729H	MGAM_ENST00000475668.2_Missense_Mutation_p.R729H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	729	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTTCTTCCGTGCTCACAGC	0.493													G|||	56	0.0111821	0.0401	0.0043	5008	,	,		19313	0.0		0.0	False		,,,				2504	0.0				p.R729H		Atlas-SNP	.											.	MGAM	767	.	0			c.G2186A						PASS	.	G	HIS/ARG	129,3941		3,123,1909	199	203	202		2186	-1	0	7	dbSNP_132	202	0,8388		0,0,4194	yes	missense	MGAM	NM_004668.2	29	3,123,6103	AA,AG,GG		0.0,3.1695,1.0355	possibly-damaging	729/1858	141736732	129,12329	2035	4194	6229	SO:0001583	missense	8972	exon18			TCTTCCGTGCTCA	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2186G>A	7.37:g.141736732G>A	ENSP00000447378:p.Arg729His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	G	12.77	2.038656	0.35989	0.031695	0.0	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91464	-2.85	5.81	-0.982	0.10266	Glycoside hydrolase, superfamily (1);	0.281671	0.23492	N	0.047582	T	0.44159	0.1280	N	0.20685	0.6	0.09310	N	1	B	0.30021	0.265	B	0.22753	0.041	T	0.54748	-0.8247	10	0.32370	T	0.25	.	11.754	0.51866	0.5808:0.0:0.4192:0.0	.	729	O43451	MGA_HUMAN	H	729;729;606	ENSP00000447378:R729H	ENSP00000316431:R606H	R	+	2	0	MGAM	141383201	0.034000	0.19679	0.000000	0.03702	0.991000	0.79684	0.534000	0.23098	-0.502000	0.06596	-0.145000	0.13849	CGT	G|0.986;A|0.014	0.014	strong		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141736732	G	A	141736732	3	1	22	1	0	0	0	0	1	0	0	0	9541	1145	40	1	2252	1	MGAM	7	141736732	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17654	141736732	17401931	4503	9611										
MGAM	8972	hgsc.bcm.edu	37	chr7	141750613	141750613	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgttacagtgaaacacaaTggtgtcccaagtcagacttc	8	9	1	2	rs145430437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141750613T>A	ENST00000549489.2	+	24	2849	c.2754T>A	c.(2752-2754)aaT>aaA	p.N918K	MGAM_ENST00000475668.2_Missense_Mutation_p.N918K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	918					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAAACACAATGGTGTCCCAA	0.373													t|||	53	0.0105831	0.0378	0.0043	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0				p.N918K		Atlas-SNP	.											.	MGAM	767	.	0			c.T2754A						PASS	.	T	LYS/ASN	121,3617		1,119,1749	105	95	98		2754	0.9	0.1	7	dbSNP_134	98	0,8200		0,0,4100	no	missense	MGAM	NM_004668.2	94	1,119,5849	AA,AT,TT		0.0,3.237,1.0136	possibly-damaging	918/1858	141750613	121,11817	1869	4100	5969	SO:0001583	missense	8972	exon24			ACACAATGGTGTC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2754T>A	7.37:g.141750613T>A	ENSP00000447378:p.Asn918Lys	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	259	112	0.432432	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	T	16.84	3.233340	0.58886	0.03237	0.0	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89746	-2.56	5.81	0.868	0.19090	.	0.000000	0.53938	D	0.000059	T	0.57140	0.2033	M	0.86028	2.79	0.09310	N	1	P	0.45768	0.866	B	0.34590	0.186	T	0.69258	-0.5192	10	0.72032	D	0.01	.	9.1608	0.37021	0.0:0.3617:0.0:0.6383	.	918	O43451	MGA_HUMAN	K	918;918;795	ENSP00000447378:N918K	ENSP00000316431:N795K	N	+	3	2	MGAM	141397082	0.061000	0.20836	0.090000	0.20809	0.275000	0.26752	-0.197000	0.09518	-0.065000	0.13021	-0.479000	0.04858	AAT	T|0.988;A|0.012	0.012	strong		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141750613	T	A	141750613	3	1	22	1	0	0	0	0	1	0	0	0	9541	1461	51	5	2844	5	MGAM	7	141750613	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13881	141750613	17388050	4504	9612										
MGAM	8972	hgsc.bcm.edu	37	chr7	141752213	141752213	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagaatggtgcttctgcCgaaaactgcactgcccgtgg	13	10	1	1	rs386718585|rs2961085	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141752213C>A	ENST00000549489.2	+	25	3020	c.2925C>A	c.(2923-2925)gcC>gcA	p.A975A	MGAM_ENST00000475668.2_Silent_p.A975A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	975	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.A975A(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGCTTCTGCCGAAAACTGCA	0.448													a|||	1517	0.302915	0.3994	0.4654	5008	,	,		18950	0.0298		0.3966	False		,,,				2504	0.2423				p.A975A		Atlas-SNP	.											MGAM_ENST00000549489,NS,carcinoma,0,4	MGAM	767	4	1	Substitution - coding silent(1)	stomach(1)	c.C2925A						PASS	.	A		1370,2540		267,836,852	76	70	72		2925	-1.3	0	7	dbSNP_101	72	3099,5187		591,1917,1635	no	coding-synonymous	MGAM	NM_004668.2		858,2753,2487	AA,AC,CC		37.4004,35.0384,36.6432		975/1858	141752213	4469,7727	1955	4143	6098	SO:0001819	synonymous_variant	8972	exon25			TTCTGCCGAAAAC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2925C>A	7.37:g.141752213C>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	85	41	0.482353	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																			C|0.723;A|0.277	0.277	strong		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141752213	C	A	141752213	2	1	22	1	0	0	0	0	0	0	0	1	9541	639	23	4		4	MGAM	7	141752213	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1600	141752213	17386450	4505	9613										
MGAM	8972	hgsc.bcm.edu	37	chr7	141754625	141754625	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagcatgccatccagcacCcctgagggtcaactctatga					rs115294234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141754625C>T	ENST00000549489.2	+	27	3326	c.3231C>T	c.(3229-3231)acC>acT	p.T1077T	MGAM_ENST00000475668.2_Silent_p.T1077T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1077	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCCAGCACCCCTGAGGGTC	0.448													c|||	56	0.0111821	0.0401	0.0043	5008	,	,		19007	0.0		0.0	False		,,,				2504	0.0				p.T1077T		Atlas-SNP	.											.	MGAM	767	.	0			c.C3231T						PASS	.	C		137,3699		4,129,1785	142	135	137		3231	1.1	0.2	7	dbSNP_132	137	0,8226		0,0,4113	no	coding-synonymous	MGAM	NM_004668.2		4,129,5898	TT,TC,CC		0.0,3.5714,1.1358		1077/1858	141754625	137,11925	1918	4113	6031	SO:0001819	synonymous_variant	8972	exon27			CAGCACCCCTGAG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3231C>T	7.37:g.141754625C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	190	95	0.5	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																			C|0.985;T|0.015	0.015	strong		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141754625	C	T	141754625	2	4	22	1	0	0	0	0	0	0	0	1	9541	610	22	2		2	MGAM	7	141754625	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2412	141754625	17384038	4506	9614	199	2								
MGAM	8972	hgsc.bcm.edu	37	chr7	141754629	141754629	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgccatccagcacccctGagggtcaactctatgatgtg					rs145885349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141754629G>C	ENST00000549489.2	+	27	3330	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	MGAM_ENST00000475668.2_Missense_Mutation_p.E1079Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1079	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCACCCCTGAGGGTCAACT	0.448													g|||	21	0.00419329	0.0151	0.0014	5008	,	,		18921	0.0		0.0	False		,,,				2504	0.0				p.E1079Q		Atlas-SNP	.											MGAM_ENST00000549489,caecum,carcinoma,-2,3	MGAM	767	3	0			c.G3235C						PASS	.	G	GLN/GLU	46,3784		0,46,1869	135	129	131		3235	2.3	0	7	dbSNP_134	131	0,8230		0,0,4115	no	missense	MGAM	NM_004668.2	29	0,46,5984	CC,CG,GG		0.0,1.201,0.3814	possibly-damaging	1079/1858	141754629	46,12014	1915	4115	6030	SO:0001583	missense	8972	exon27			ACCCCTGAGGGTC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3235G>C	7.37:g.141754629G>C	ENSP00000447378:p.Glu1079Gln	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	191	94	0.492147	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	6	0.0027472527472527475	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	0	0.0	G	11.01	1.514051	0.27123	0.01201	0.0	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.30714	1.52	4.24	2.31	0.28768	Glycoside hydrolase-type carbohydrate-binding (1);	0.422018	0.17369	N	0.176760	T	0.28001	0.0690	M	0.76838	2.35	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.28235	-1.0050	10	0.54805	T	0.06	.	12.7162	0.57117	0.0:0.3182:0.6818:0.0	.	1079	O43451	MGA_HUMAN	Q	1079;1079;956	ENSP00000447378:E1079Q	ENSP00000316431:E956Q	E	+	1	0	MGAM	141401098	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.690000	0.25451	0.207000	0.20607	-0.515000	0.04445	GAG	G|0.997;C|0.003	0.003	strong		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			C	141754629	G	C	141754629	3	2	22	1	0	0	0	0	1	0	0	0	9541	1291	45	4	3337	4	MGAM	7	141754629	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	141754629	17384034	4507	9615	199	2								
MGAM	8972	hgsc.bcm.edu	37	chr7	141759274	141759274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatgtcctcccgcaggaTgtgcagtactcagacatcga	9	15	1	1	rs2960758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:141759274T>C	ENST00000549489.2	+	32	3917	c.3822T>C	c.(3820-3822)gaT>gaC	p.D1274D	MGAM_ENST00000475668.2_Silent_p.D1274D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1274	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCGCAGGATGTGCAGTACT	0.562													N|||	1101	0.219848	0.1785	0.3862	5008	,	,		18252	0.0099		0.3777	False		,,,				2504	0.2117				p.D1274D		Atlas-SNP	.											.	MGAM	767	.	0			c.T3822C						PASS	.						33	29	31					7																	141759274		2002	4150	6152	SO:0001819	synonymous_variant	8972	exon32			GCAGGATGTGCAG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3822T>C	7.37:g.141759274T>C		Somatic	338	1	0.00295858		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																			C|1.000;|0.000	1.000	weak		0.562	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			C	141759274	T	C	141759274	2	2	22	1	0	0	0	0	0	0	0	1	9541	1461	51	2		2	MGAM	7	141759274	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4645	141759274	17379389	4508	9616										
PRSS1	5644	hgsc.bcm.edu	37	chr7	142460752	142460752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgtggtctgcaatggaCagctccaaggagttgtctcc	12	12	2	0	rs140793689		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142460752C>G	ENST00000311737.7	+	5	631	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	PRSS1_ENST00000486171.1_Missense_Mutation_p.Q223E	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGCAATGGACAGCTCCAAGG	0.498																																					p.Q209E		Atlas-SNP	.											PRSS1,NS,carcinoma,-2,2	PRSS1	68	2	0			c.C625G						scavenged	.						81	82	82					7																	142460752		2203	4300	6503	SO:0001583	missense	5644	exon5			AATGGACAGCTCC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.625C>G	7.37:g.142460752C>G	ENSP00000308720:p.Gln209Glu	Somatic	383	2	0.00522193		WXS	Illumina HiSeq	Phase_I	424	10	0.0235849	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.193364	0.00026	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.18	-6.37	0.01963	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378699	0.32671	N	0.005798	T	0.78142	0.4237	N	0.11818	0.18	0.23758	N	0.996928	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.62539	-0.6833	10	0.02654	T	1	.	15.6905	0.77446	0.0827:0.7314:0.186:0.0	.	223;209	E7EQ64;P07477	.;TRY1_HUMAN	E	223;209;199	ENSP00000417854:Q223E;ENSP00000308720:Q209E	ENSP00000308720:Q209E	Q	+	1	0	PRSS1	142140326	0.000000	0.05858	0.024000	0.17045	0.003000	0.03518	-1.756000	0.01813	-1.839000	0.01186	0.195000	0.17529	CAG	.	.	weak		0.498	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142460752	C	G	142460752	3	3	22	1	0	0	0	0	1	0	0	0	12614	479	17	4	643	4	PRSS1	7	142460752	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	701478	142460752	16677911	4509	9617										
PRSS1	5644	hgsc.bcm.edu	37	chr7	142460764	142460764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaatggacagctccaaggaGttgtctcctggggtgatggc	15	9	1	1	rs200902389		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142460764G>A	ENST00000311737.7	+	5	643	c.637G>A	c.(637-639)Gtt>Att	p.V213I	PRSS1_ENST00000486171.1_Missense_Mutation_p.V227I	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTCCAAGGAGTTGTCTCCTG	0.507																																					p.V213I		Atlas-SNP	.											PRSS1,NS,carcinoma,0,1	PRSS1	68	1	0			c.G637A						scavenged	.																																			SO:0001583	missense	5644	exon5			CAAGGAGTTGTCT	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.637G>A	7.37:g.142460764G>A	ENSP00000308720:p.Val213Ile	Somatic	392	2	0.00510204		WXS	Illumina HiSeq	Phase_I	429	12	0.027972	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.715405	0.00093	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92495	-3.05;-3.05	3.18	-2.69	0.06022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.441828	0.26891	N	0.021970	T	0.73860	0.3641	N	0.04387	-0.21	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.65500	-0.6153	10	0.02654	T	1	.	8.608	0.33784	0.6977:0.0:0.3023:0.0	.	227;213	E7EQ64;P07477	.;TRY1_HUMAN	I	227;213;203	ENSP00000417854:V227I;ENSP00000308720:V213I	ENSP00000308720:V213I	V	+	1	0	PRSS1	142140338	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.180000	0.09754	-0.675000	0.05246	-1.152000	0.01820	GTT	.	.	weak		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142460764	G	A	142460764	3	1	22	1	0	0	0	0	1	0	0	0	12614	1029	36	2	655	2	PRSS1	7	142460764	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	142460764	16677899	4510	9618										
EPHB6	2051	hgsc.bcm.edu	37	chr7	142562011	142562011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcctggcacctcaaacgCtggaccaaggtggacacaat	9	14	1	0	rs8177141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142562011C>T	ENST00000392957.2	+	7	1240	c.453C>T	c.(451-453)cgC>cgT	p.R151R	EPHB6_ENST00000442129.1_Silent_p.R151R|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	151	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACCTCAAACGCTGGACCAAGG	0.627													C|||	122	0.024361	0.0847	0.0144	5008	,	,		17524	0.0		0.0	False		,,,				2504	0.0				p.R151R		Atlas-SNP	.											EPHB6,right_lower_lobe,carcinoma,-2,1	EPHB6	168	1	0			c.C453T						PASS	.	C		332,4074	168.3+/-199.2	19,294,1890	58	62	61		453	4.7	1	7	dbSNP_117	61	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EPHB6	NM_004445.3		19,297,6187	TT,TC,CC		0.0349,7.5352,2.5757		151/1022	142562011	335,12671	2203	4300	6503	SO:0001819	synonymous_variant	2051	exon7			CAAACGCTGGACC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.453C>T	7.37:g.142562011C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	106	60	0.566038	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																			C|0.970;T|0.030	0.030	strong		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142562011	C	T	142562011	2	4	22	1	0	0	0	0	0	0	0	1	5178	784	28	2		2	EPHB6	7	142562011	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101247	142562011	16576652	4511	9619										
EPHB6	2051	hgsc.bcm.edu	37	chr7	142563253	142563253	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccacgggggctctataagTcttctgctgggaatgctccc	12	13	3	0	rs8177146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142563253T>G	ENST00000392957.2	+	8	1757	c.970T>G	c.(970-972)Tct>Gct	p.S324A	EPHB6_ENST00000442129.1_Missense_Mutation_p.S324A|EPHB6_ENST00000411471.2_Missense_Mutation_p.S47A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	324	Cys-rich.		S -> A (in dbSNP:rs8177146). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.2}.			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTCTATAAGTCTTCTGCTGG	0.662													G|||	342	0.0682907	0.1301	0.0375	5008	,	,		14216	0.0099		0.0288	False		,,,				2504	0.1074				p.S324A		Atlas-SNP	.											.	EPHB6	168	.	0			c.T970G						PASS	.	G	ALA/SER	492,3914	779.6+/-414.4	37,418,1748	49	47	48		970	4.5	1	7	dbSNP_117	48	123,8477	813.3+/-407.0	2,119,4179	yes	missense	EPHB6	NM_004445.3	99	39,537,5927	GG,GT,TT		1.4302,11.1666,4.7286	benign	324/1022	142563253	615,12391	2203	4300	6503	SO:0001583	missense	2051	exon8			TATAAGTCTTCTG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.970T>G	7.37:g.142563253T>G	ENSP00000376684:p.Ser324Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	117	0.05357142857142857	75	0.1524390243902439	14	0.03867403314917127	7	0.012237762237762238	21	0.027704485488126648	G	0.100	-1.152918	0.01700	0.111666	0.014302	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.15603	2.41;2.41;2.41	5.43	4.54	0.55810	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.46442	N	0.000283	T	0.00039	0.0001	N	0.00746	-1.225	0.54753	P	1.399999999995849E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.35425	-0.9789	9	0.02654	T	1	.	12.7255	0.57168	0.0:0.0:0.5683:0.4317	rs8177146;rs58284647;rs8177146	324	O15197	EPHB6_HUMAN	A	324;324;47	ENSP00000376684:S324A;ENSP00000410789:S324A;ENSP00000409061:S47A	ENSP00000376684:S324A	S	+	1	0	EPHB6	142273375	0.074000	0.21230	0.971000	0.41717	0.271000	0.26615	-0.105000	0.10907	0.663000	0.31027	-0.217000	0.12591	TCT	T|0.947;G|0.053	0.053	strong		0.662	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			G	142563253	T	G	142563253	3	3	22	1	0	0	0	0	1	0	0	0	5178	1667	58	5	984	5	EPHB6	7	142563253	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1242	142563253	16575410	4512	9620										
TRPV6	55503	hgsc.bcm.edu	37	chr7	142573332	142573332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaagcagatgatgtacagCagatatatggcacccagcat	11	8	0	4	rs4987664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142573332C>T	ENST00000359396.3	-	8	1256	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	337					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGATGTACAGCAGATATATGG	0.597													C|||	105	0.0209665	0.0726	0.013	5008	,	,		18895	0.0		0.0	False		,,,				2504	0.0				p.L337L		Atlas-SNP	.											.	TRPV6	108	.	0			c.G1011A						PASS	.	C		312,4094	167.3+/-198.3	17,278,1908	150	147	148		1011	1.6	0.4	7	dbSNP_113	148	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPV6	NM_018646.2		17,280,6206	TT,TC,CC		0.0233,7.0813,2.4143		337/726	142573332	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	55503	exon8			GTACAGCAGATAT	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1011G>A	7.37:g.142573332C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	49	28	0.571429	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																			C|0.971;T|0.029	0.029	strong		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		T	142573332	C	T	142573332	2	4	22	1	0	0	0	0	0	0	0	1	16597	697	25	2		2	TRPV6	7	142573332	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10079	142573332	16565331	4513	9621										
TRPV6	55503	hgsc.bcm.edu	37	chr7	142573613	142573613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgaggtcagtggtccataCgtccactgggtgtgcttccg	14	11	1	0	rs79832568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142573613C>T	ENST00000359396.3	-	7	1052	c.807G>A	c.(805-807)acG>acA	p.T269T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	269					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGGTCCATACGTCCACTGGG	0.532													C|||	117	0.0233626	0.0779	0.0144	5008	,	,		10275	0.0		0.004	False		,,,				2504	0.0				p.T269T		Atlas-SNP	.											.	TRPV6	108	.	0			c.G807A						PASS	.	C		327,4079	172.7+/-202.6	19,289,1895	214	162	180		807	-9.9	0	7	dbSNP_131	180	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	TRPV6	NM_018646.2		19,303,6181	TT,TC,CC		0.1628,7.4217,2.6219		269/726	142573613	341,12665	2203	4300	6503	SO:0001819	synonymous_variant	55503	exon7			TCCATACGTCCAC	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.807G>A	7.37:g.142573613C>T		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	170	83	0.488235	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																			C|0.976;T|0.024	0.024	strong		0.532	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		T	142573613	C	T	142573613	2	4	22	1	0	0	0	0	0	0	0	1	16597	523	19	1		1	TRPV6	7	142573613	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	281	142573613	16565050	4514	9622										
KEL	3792	hgsc.bcm.edu	37	chr7	142640004	142640004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaacgtctgcagcattctcTaagaatgtgagggagtcatt	10	9	3	2	rs8176039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142640004T>C	ENST00000355265.2	-	17	2373	c.1899A>G	c.(1897-1899)ttA>ttG	p.L633L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	633					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGCATTCTCTAAGAATGTGA	0.517													C|||	353	0.0704872	0.2519	0.0274	5008	,	,		21440	0.0		0.001	False		,,,				2504	0.0				p.L633L		Atlas-SNP	.											.	KEL	128	.	0			c.A1899G						PASS	.	C		957,3449	735.8+/-410.7	105,747,1351	103	94	97	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1899	1.8	0.2	7	dbSNP_117	97	10,8590	818.3+/-406.9	0,10,4290	no	coding-synonymous	KEL	NM_000420.2		105,757,5641	CC,CT,TT		0.1163,21.7204,7.435		633/733	142640004	967,12039	2203	4300	6503	SO:0001819	synonymous_variant	3792	exon17			ATTCTCTAAGAAT	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1899A>G	7.37:g.142640004T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	129	64	0.496124	NM_000420	B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1																																																																																			A|0.102;C|0.060	0.060	strong		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		C	142640004	T	C	142640004	2	2	22	1	0	0	0	0	0	0	0	1	8142	1519	53	3		3	KEL	7	142640004	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66391	142640004	16498659	4515	9623										
OR9A2	135924	hgsc.bcm.edu	37	chr7	142724062	142724062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatacatgggggactgcagaCgtttatccacacagacaatc	9	10	0	2	rs9885986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142724062C>T	ENST00000350513.2	-	1	220	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	53			R -> H (in dbSNP:rs9885986).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGACTGCAGACGTTTATCCAC	0.433													C|||	439	0.0876597	0.1384	0.0548	5008	,	,		22242	0.0377		0.0577	False		,,,				2504	0.1247				p.R53H		Atlas-SNP	.											.	OR9A2	52	.	0			c.G158A						PASS	.	C	HIS/ARG	561,3845	250.9+/-257.8	43,475,1685	131	134	133		158	2.3	0.1	7	dbSNP_119	133	588,8012	156.4+/-210.3	25,538,3737	no	missense	OR9A2	NM_001001658.1	29	68,1013,5422	TT,TC,CC		6.8372,12.7326,8.8344	benign	53/311	142724062	1149,11857	2203	4300	6503	SO:0001583	missense	135924	exon1			TGCAGACGTTTAT		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"GPCR / Class A : Olfactory receptors"	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.158G>A	7.37:g.142724062C>T	ENSP00000316518:p.Arg53His	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	164	73	0.445122	NM_001001658	B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	CCDS34767.1	171	0.0782967032967033	84	0.17073170731707318	26	0.0718232044198895	24	0.04195804195804196	37	0.048812664907651716	C	2.760	-0.258015	0.05791	0.127326	0.068372	ENSG00000179468	ENST00000350513	T	0.01139	5.28	4.13	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	1.602110	0.04617	N	0.401290	T	0.00012	0.0000	N	0.25332	0.735	0.80722	P	0.0	B	0.21452	0.056	B	0.16289	0.015	T	0.45775	-0.9238	9	0.02654	T	1	-5.82	6.0054	0.19542	0.0:0.6743:0.0:0.3257	rs9885986;rs9885986	53	Q8NGT5	OR9A2_HUMAN	H	53	ENSP00000316518:R53H	ENSP00000316518:R53H	R	-	2	0	OR9A2	142434184	0.000000	0.05858	0.055000	0.19348	0.007000	0.05969	-0.748000	0.04818	0.506000	0.28125	0.561000	0.74099	CGT	C|0.909;T|0.091	0.091	strong		0.433	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			T	142724062	C	T	142724062	3	4	22	1	0	0	0	0	1	0	0	0	11248	536	19	1	778	1	OR9A2	7	142724062	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84058	142724062	16414601	4516	9624										
TAS2R40	259286	hgsc.bcm.edu	37	chr7	142919731	142919731	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggagaagaagtacttctCtgagaccaatatggtcaacc	9	10	2	3	rs10260248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:142919731C>A	ENST00000408947.3	+	1	602	c.560C>A	c.(559-561)tCt>tAt	p.S187Y	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	187			S -> Y (in dbSNP:rs10260248).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AAGTACTTCTCTGAGACCAAT	0.463													C|||	410	0.081869	0.1384	0.0692	5008	,	,		20855	0.0218		0.0577	False		,,,				2504	0.1012				p.S187Y		Atlas-SNP	.											.	TAS2R40	64	.	0			c.C560A						PASS	.	C	TYR/SER	509,3291		39,431,1430	129	122	124		560	2.1	1	7	dbSNP_119	124	491,7769		18,455,3657	yes	missense	TAS2R40	NM_176882.1	144	57,886,5087	AA,AC,CC		5.9443,13.3947,8.2919	benign	187/324	142919731	1000,11060	1900	4130	6030	SO:0001583	missense	259286	exon1			ACTTCTCTGAGAC	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.560C>A	7.37:g.142919731C>A	ENSP00000386210:p.Ser187Tyr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	52	0.536082	NM_176882	A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	CCDS43662.1	148	0.06776556776556776	67	0.13617886178861788	32	0.08839779005524862	14	0.024475524475524476	35	0.04617414248021108	C	0.053	-1.244212	0.01481	0.133947	0.059443	ENSG00000221937	ENST00000408947	T	0.00824	5.65	5.17	2.07	0.26955	.	1.746340	0.03832	U	0.269255	T	0.00039	0.0001	M	0.71206	2.165	0.80722	P	0.0	P	0.41673	0.759	B	0.41374	0.355	T	0.48293	-0.9048	9	0.48119	T	0.1	.	7.0987	0.25325	0.0:0.6061:0.2139:0.18	rs10260248;rs52793975;rs58497743;rs10260248	187	P59535	T2R40_HUMAN	Y	187	ENSP00000386210:S187Y	ENSP00000386210:S187Y	S	+	2	0	TAS2R40	142629853	0.000000	0.05858	0.994000	0.49952	0.678000	0.39670	-0.804000	0.04535	1.149000	0.42402	0.655000	0.94253	TCT	C|0.932;A|0.068	0.068	strong		0.463	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			A	142919731	C	A	142919731	3	1	22	1	0	0	0	0	1	0	0	0	15575	913	32	4	562	4	TAS2R40	7	142919731	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	195669	142919731	16218932	4517	9625										
EPHA1	2041	hgsc.bcm.edu	37	chr7	143088592	143088592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaaagaatgcgcttctgGtgcccgggcagtgtgattcc	13	11	1	2	rs56307701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143088592G>A	ENST00000275815.3	-	18	2975	c.2889C>T	c.(2887-2889)caC>caT	p.H963H	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	963	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGCGCTTCTGGTGCCCGGGCA	0.632													G|||	60	0.0119808	0.0446	0.0014	5008	,	,		16965	0.0		0.0	False		,,,				2504	0.0				p.H963H		Atlas-SNP	.											.	EPHA1	193	.	0			c.C2889T						PASS	.	G		187,4219	118.4+/-156.1	3,181,2019	89	59	69		2889	3.4	1	7	dbSNP_129	69	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	EPHA1	NM_005232.4		3,185,6315	AA,AG,GG		0.0465,4.2442,1.4686		963/977	143088592	191,12815	2203	4300	6503	SO:0001819	synonymous_variant	2041	exon18			CTTCTGGTGCCCG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2889C>T	7.37:g.143088592G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	175	84	0.48	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																			G|0.988;A|0.013	0.013	strong		0.632	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143088592	G	A	143088592	2	1	22	1	0	0	0	0	0	0	0	1	5165	1252	44	2		2	EPHA1	7	143088592	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168861	143088592	16050071	4518	9626										
TAS2R41	259287	hgsc.bcm.edu	37	chr7	143175154	143175154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctgcagttggttgggacGgtgcacaacttctactactc	11	11	1	0	rs1404635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143175154G>A	ENST00000408916.1	+	1	189	c.189G>A	c.(187-189)acG>acA	p.T63T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	63					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGTTGGGACGGTGCACAACT	0.572													G|||	1057	0.211062	0.0219	0.2695	5008	,	,		15922	0.2956		0.2535	False		,,,				2504	0.2945				p.T63T		Atlas-SNP	.											.	TAS2R41	43	.	0			c.G189A						PASS	.	G		234,3884		10,214,1835	125	125	125		189	4.9	0.1	7	dbSNP_88	125	2283,6107		311,1661,2223	no	coding-synonymous	TAS2R41	NM_176883.2		321,1875,4058	AA,AG,GG		27.211,5.6824,20.1231		63/308	143175154	2517,9991	2059	4195	6254	SO:0001819	synonymous_variant	259287	exon1			TGGGACGGTGCAC	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.189G>A	7.37:g.143175154G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	196	81	0.413265	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	CCDS43663.1																																																																																			G|0.772;A|0.228	0.228	strong		0.572	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			A	143175154	G	A	143175154	2	1	22	1	0	0	0	0	0	0	0	1	15576	1103	39	1		1	TAS2R41	7	143175154	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86562	143175154	15963509	4519	9627										
TAS2R41	259287	hgsc.bcm.edu	37	chr7	143175345	143175345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctgaagtggaggttccCagggtgggtgccctggctcc	18	10	0	1	rs10278721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143175345C>T	ENST00000408916.1	+	1	380	c.380C>T	c.(379-381)cCa>cTa	p.P127L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	127			P -> L (in dbSNP:rs10278721). {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGAGGTTCCCAGGGTGGGTG	0.498													C|||	1058	0.211262	0.0227	0.2695	5008	,	,		15749	0.2956		0.2535	False		,,,				2504	0.2945				p.P127L		Atlas-SNP	.											.	TAS2R41	43	.	0			c.C380T						PASS	.	C	LEU/PRO	232,3666		9,214,1726	57	56	57		380	1.5	0.3	7	dbSNP_119	57	2266,6026		312,1642,2192	yes	missense	TAS2R41	NM_176883.2	98	321,1856,3918	TT,TC,CC		27.3275,5.9518,20.4922	benign	127/308	143175345	2498,9692	1949	4146	6095	SO:0001583	missense	259287	exon1			GGTTCCCAGGGTG	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.380C>T	7.37:g.143175345C>T	ENSP00000386201:p.Pro127Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	59	0.513043	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	CCDS43663.1	497	0.22756410256410256	19	0.03861788617886179	95	0.26243093922651933	193	0.3374125874125874	190	0.25065963060686014	C	15.91	2.973193	0.53614	0.059518	0.273275	ENSG00000221855	ENST00000408916	T	0.33654	1.4	5.7	1.47	0.22746	.	0.790114	0.10721	U	0.641758	T	0.00012	0.0000	L	0.35593	1.075	0.80722	P	0.0	B	0.33583	0.418	B	0.32393	0.145	T	0.42068	-0.9473	9	0.62326	D	0.03	.	1.6792	0.02828	0.1616:0.3844:0.2791:0.175	rs10278721;rs10278721	127	P59536	T2R41_HUMAN	L	127	ENSP00000386201:P127L	ENSP00000386201:P127L	P	+	2	0	TAS2R41	142885467	0.000000	0.05858	0.272000	0.24630	0.814000	0.46013	0.291000	0.18994	0.745000	0.32763	0.655000	0.94253	CCA	C|0.770;T|0.230	0.230	strong		0.498	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143175345	C	T	143175345	3	4	22	1	0	0	0	0	1	0	0	0	15576	594	21	2	382	2	TAS2R41	7	143175345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	191	143175345	15963318	4520	9628										
OR2F1	26211	hgsc.bcm.edu	37	chr7	143657473	143657473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgatactcggccatcatgcAtggagggctgtgtgctaggt	15	9	1	0	rs2072165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143657473A>G	ENST00000392899.1	+	1	447	c.410A>G	c.(409-411)cAt>cGt	p.H137R	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	137			H -> R (in dbSNP:rs2072165).		signal transduction (GO:0007165)	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(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCCATCATGCATGGAGGGCTG	0.567													A|||	1132	0.226038	0.4463	0.2378	5008	,	,		21578	0.1627		0.1093	False		,,,				2504	0.1053				p.H137R		Atlas-SNP	.											.	OR2F1	71	.	0			c.A410G						PASS	.	A	ARG/HIS	1711,2695	515.5+/-368.9	335,1041,827	154	132	140		410	3.2	0.6	7	dbSNP_96	140	776,7824	183.3+/-231.6	34,708,3558	yes	missense	OR2F1	NM_012369.2	29	369,1749,4385	GG,GA,AA		9.0233,38.8334,19.1219	benign	137/318	143657473	2487,10519	2203	4300	6503	SO:0001583	missense	26211	exon1			TCATGCATGGAGG	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.410A>G	7.37:g.143657473A>G	ENSP00000376633:p.His137Arg	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	275	137	0.498182	NM_012369	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	476	0.21794871794871795	202	0.4105691056910569	88	0.2430939226519337	102	0.17832167832167833	84	0.11081794195250659	A	2.960	-0.214763	0.06101	0.388334	0.090233	ENSG00000213215	ENST00000392899	T	0.35421	1.31	5.53	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.229512	0.30911	N	0.008621	T	0.00012	0.0000	N	0.20483	0.58	0.46499	P	9.299999999999864E-4	B	0.06786	0.001	B	0.06405	0.002	T	0.43294	-0.9400	9	0.56958	D	0.05	-7.694	7.008	0.24848	0.7489:0.0:0.2511:0.0	rs2072165;rs60798611	137	Q13607	OR2F1_HUMAN	R	137	ENSP00000376633:H137R	ENSP00000376633:H137R	H	+	2	0	OR2F1	143288406	0.000000	0.05858	0.568000	0.28447	0.033000	0.12548	0.163000	0.16520	0.524000	0.28502	-0.256000	0.11100	CAT	A|0.807;G|0.193	0.193	strong		0.567	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			G	143657473	A	G	143657473	3	3	22	1	0	0	0	0	1	0	0	0	10996	217	8	2	412	2	OR2F1	7	143657473	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	482128	143657473	15481190	4521	9629										
OR6B1	135946	hgsc.bcm.edu	37	chr7	143701516	143701516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagccatgggctctgcttcCgcctcgctcttggttcctgg	12	14	2	1	rs7787378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143701516C>T	ENST00000408922.2	+	1	495	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	143			R -> C (in dbSNP:rs7787378).			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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCTCTGCTTCCGCCTCGCTCT	0.562													C|||	813	0.16234	0.0764	0.3674	5008	,	,		21958	0.2411		0.0885	False		,,,				2504	0.1278				p.R143C		Atlas-SNP	.											OR6B1,NS,carcinoma,-1,3	OR6B1	60	3	0			c.C427T						PASS	.	C	CYS/ARG	303,3985		11,281,1852	80	83	82		427	5.3	0.5	7	dbSNP_116	82	796,7768		49,698,3535	yes	missense	OR6B1	NM_001005281.1	180	60,979,5387	TT,TC,CC		9.2947,7.0662,8.5512	benign	143/312	143701516	1099,11753	2144	4282	6426	SO:0001583	missense	135946	exon1			TGCTTCCGCCTCG		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.427C>T	7.37:g.143701516C>T	ENSP00000386151:p.Arg143Cys	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	176	83	0.471591	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	CCDS43667.1	358	0.16391941391941392	38	0.07723577235772358	111	0.30662983425414364	141	0.2465034965034965	68	0.08970976253298153	C	8.409	0.843804	0.16963	0.070662	0.092947	ENSG00000221813	ENST00000408922	T	0.00123	8.7	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.415982	0.17515	U	0.171466	T	0.00012	0.0000	L	0.28458	0.855	0.41184	P	0.013746000000000036	B	0.09022	0.002	B	0.18561	0.022	T	0.50955	-0.8766	9	0.34782	T	0.22	.	14.2547	0.66043	0.0:1.0:0.0:0.0	rs7787378;rs52795515;rs7787378	143	O95007	OR6B1_HUMAN	C	143	ENSP00000386151:R143C	ENSP00000386151:R143C	R	+	1	0	OR6B1	143332449	0.022000	0.18835	0.511000	0.27724	0.142000	0.21351	1.965000	0.40471	2.739000	0.93911	0.655000	0.94253	CGC	C|0.853;N|0.000	.	strong		0.562	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			T	143701516	C	T	143701516	3	4	22	1	0	0	0	0	1	0	0	0	11187	652	23	1	429	1	OR6B1	7	143701516	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44043	143701516	15437147	4522	9630										
OR2A5	393046	hgsc.bcm.edu	37	chr7	143747796	143747796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcccatgcacaatgcagaCctttttatacatggcttttg	7	10	0	1	rs61741408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143747796C>A	ENST00000408906.2	+	1	336	c.302C>A	c.(301-303)aCc>aAc	p.T101N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L103fs*14(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACAATGCAGACCTTTTTATAC	0.428													C|||	16	0.00319489	0.0121	0.0	5008	,	,		24203	0.0		0.0	False		,,,				2504	0.0				p.T101N		Atlas-SNP	.											OR2A5,colon,carcinoma,+1,5	OR2A5	78	5	1	Deletion - Frameshift(1)	lung(1)	c.C302A						PASS	.	C	ASN/THR	58,4162		0,58,2052	151	149	150		302	4.5	1	7	dbSNP_129	150	1,8505		0,1,4252	yes	missense	OR2A5	NM_012365.1	65	0,59,6304	AA,AC,CC		0.0118,1.3744,0.4636	benign	101/312	143747796	59,12667	2110	4253	6363	SO:0001583	missense	393046	exon1			TGCAGACCTTTTT	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.302C>A	7.37:g.143747796C>A	ENSP00000386208:p.Thr101Asn	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	165	85	0.515152	NM_012365	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	10.44	1.350249	0.24512	0.013744	1.18E-4	ENSG00000221836	ENST00000408906	T	0.02974	4.09	5.37	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03390	0.0098	M	0.71036	2.16	0.31492	N	0.665835	B	0.27932	0.194	B	0.27262	0.078	T	0.00896	-1.1523	9	0.66056	D	0.02	.	8.4796	0.33034	0.0:0.8307:0.0:0.1693	rs61741408	101	Q96R48	OR2A5_HUMAN	N	101	ENSP00000386208:T101N	ENSP00000386208:T101N	T	+	2	0	OR2A5	143378729	0.000000	0.05858	0.994000	0.49952	0.301000	0.27625	0.546000	0.23284	2.797000	0.96272	0.650000	0.86243	ACC	C|0.997;A|0.003	0.003	strong		0.428	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143747796	C	A	143747796	3	1	22	1	0	0	0	0	1	0	0	0	10981	507	18	4	304	4	OR2A5	7	143747796	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46280	143747796	15390867	4523	9631										
OR2A5	393046	hgsc.bcm.edu	37	chr7	143748364	143748364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgaaccccttgatctaTagcctgaggaacgcagaggt	11	10	1	4	rs4407791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143748364T>C	ENST00000408906.2	+	1	904	c.870T>C	c.(868-870)taT>taC	p.Y290Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTTGATCTATAGCCTGAGGA	0.517													.|||	3414	0.681709	0.8911	0.7522	5008	,	,		20215	0.6637		0.502	False		,,,				2504	0.5521				p.Y290Y		Atlas-SNP	.											.	OR2A5	78	.	0			c.T870C						PASS	.	C		3276,640		1372,532,54	108	105	106		870	3.4	1	7	dbSNP_111	106	4503,3841		1230,2043,899	no	coding-synonymous	OR2A5	NM_012365.1		2602,2575,953	CC,CT,TT		46.0331,16.3432,36.5498		290/312	143748364	7779,4481	1958	4172	6130	SO:0001819	synonymous_variant	393046	exon1			GATCTATAGCCTG	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.870T>C	7.37:g.143748364T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	144	144	1	NM_012365	B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																			T|0.357;C|0.643	0.643	strong		0.517	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			C	143748364	T	C	143748364	2	2	22	1	0	0	0	0	0	0	0	1	10981	1413	49	2		2	OR2A5	7	143748364	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	568	143748364	15390299	4524	9632										
OR2A25	392138	hgsc.bcm.edu	37	chr7	143771408	143771408	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctttgggctcttctccctGttctacatcttcattctgtt	5	13	7	0	rs59319753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143771408G>C	ENST00000408898.2	+	1	134	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTTCTCCCTGTTCTACATCT	0.527													.|||	1689	0.33726	0.2186	0.4467	5008	,	,		19151	0.628		0.2107	False		,,,				2504	0.2505				p.L32L		Atlas-SNP	.											.	OR2A25	66	.	0			c.G96C						PASS	.	G		899,3507	336.5+/-304.4	82,735,1386	80	84	83		96	0.6	1	7	dbSNP_129	83	1794,6806	320.0+/-314.4	190,1414,2696	no	coding-synonymous	OR2A25	NM_001004488.1		272,2149,4082	CC,CG,GG		20.8605,20.404,20.7058		32/311	143771408	2693,10313	2203	4300	6503	SO:0001819	synonymous_variant	392138	exon1			CTCCCTGTTCTAC		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.96G>C	7.37:g.143771408G>C		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	313	148	0.472843	NM_001004488	B2RNC9	Silent	SNP	ENST00000408898.2	37	CCDS43669.1																																																																																			G|0.684;C|0.316	0.316	strong		0.527	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			C	143771408	G	C	143771408	2	2	22	1	0	0	0	0	0	0	0	1	10978	1364	48	4		4	OR2A25	7	143771408	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23044	143771408	15367255	4525	9633										
OR2A25	392138	hgsc.bcm.edu	37	chr7	143771536	143771536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgacatcgcctgtgcttgcaGcacggtgccccagatgctgg	13	14	0	1	rs6951485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143771536G>A	ENST00000408898.2	+	1	262	c.224G>A	c.(223-225)aGc>aAc	p.S75N		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	75			S -> N (in dbSNP:rs6951485). {ECO:0000269|PubMed:12690205}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGTGCTTGCAGCACGGTGCCC	0.562													.|||	3192	0.63738	0.7769	0.7147	5008	,	,		20464	0.6379		0.496	False		,,,				2504	0.5389				p.S75N		Atlas-SNP	.											.	OR2A25	66	.	0			c.G224A						PASS	.	A	ASN/SER	3220,1186	414.8+/-337.0	1183,854,166	80	82	81		224	2.5	1	7	dbSNP_116	81	4541,4059	556.5+/-386.9	1205,2131,964	yes	missense	OR2A25	NM_001004488.1	46	2388,2985,1130	AA,AG,GG		47.1977,26.9178,40.3275	benign	75/311	143771536	7761,5245	2203	4300	6503	SO:0001583	missense	392138	exon1			CTTGCAGCACGGT		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.224G>A	7.37:g.143771536G>A	ENSP00000386167:p.Ser75Asn	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	276	273	0.98913	NM_001004488	B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	CCDS43669.1	1367	0.6259157509157509	384	0.7804878048780488	250	0.6906077348066298	371	0.6486013986013986	362	0.47757255936675463	A	0.006	-2.020272	0.00418	0.730822	0.528023	ENSG00000221933	ENST00000408898	T	0.00433	7.43	4.88	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	L	0.28556	0.865	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	8	0.10902	T	0.67	-3.3808	4.2596	0.10735	0.565:0.1674:0.2676:0.0	rs6951485;rs6951485	75	A4D2G3	O2A25_HUMAN	N	75	ENSP00000386167:S75N	ENSP00000386167:S75N	S	+	2	0	OR2A25	143402469	0.000000	0.05858	0.997000	0.53966	0.172000	0.22775	-0.086000	0.11233	0.059000	0.16252	-1.204000	0.01649	AGC	G|0.399;A|0.601	0.601	strong		0.562	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			A	143771536	G	A	143771536	3	1	22	1	0	0	0	0	1	0	0	0	10978	971	34	2	226	2	OR2A25	7	143771536	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128	143771536	15367127	4526	9634										
OR2A25	392138	hgsc.bcm.edu	37	chr7	143771937	143771937	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgtctgtgctggtgggaGccttcttttccactgtaata	11	9	2	0	rs2961135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143771937G>C	ENST00000408898.2	+	1	663	c.625G>C	c.(625-627)Gcc>Ccc	p.A209P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	209			A -> P (in dbSNP:rs2961135). {ECO:0000269|PubMed:12690205}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTGGTGGGAGCCTTCTTTTC	0.458													.|||	3071	0.613219	0.7095	0.7061	5008	,	,		19288	0.6369		0.4761	False		,,,				2504	0.5337				p.A209P		Atlas-SNP	.											.	OR2A25	66	.	0			c.G625C						PASS	.	C	PRO/ALA	2856,1264		986,884,190	128	134	132		625	4.8	0.9	7	dbSNP_101	132	4345,4107		1133,2079,1014	yes	missense	OR2A25	NM_001004488.1	27	2119,2963,1204	CC,CG,GG		48.592,30.6796,42.7219	benign	209/311	143771937	7201,5371	2060	4226	6286	SO:0001583	missense	392138	exon1			GTGGGAGCCTTCT		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.625G>C	7.37:g.143771937G>C	ENSP00000386167:p.Ala209Pro	Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	267	133	0.498127	NM_001004488	B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	CCDS43669.1	1309	0.5993589743589743	345	0.7012195121951219	247	0.6823204419889503	368	0.6433566433566433	349	0.4604221635883905	C	0.008	-1.862669	0.00552	0.693204	0.51408	ENSG00000221933	ENST00000408898	T	0.21932	1.98	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.00057	-2.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40270	-0.9572	8	0.02654	T	1	-5.5745	6.7652	0.23562	0.0:0.7262:0.1809:0.0929	rs2961135;rs10366610;rs17735983;rs52811826;rs58464030;rs2961135	209	A4D2G3	O2A25_HUMAN	P	209	ENSP00000386167:A209P	ENSP00000386167:A209P	A	+	1	0	OR2A25	143402870	0.091000	0.21658	0.915000	0.36163	0.193000	0.23685	1.576000	0.36504	1.275000	0.44379	-0.215000	0.12644	GCC	G|0.409;C|0.590	0.590	strong		0.458	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			C	143771937	G	C	143771937	3	2	22	1	0	0	0	0	1	0	0	0	10978	971	34	4	627	4	OR2A25	7	143771937	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	401	143771937	15366726	4527	9635										
OR2A2	442361	hgsc.bcm.edu	37	chr7	143806688	143806688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaagagcatggaaggcaacCagacatggatcacagacatc	10	10	1	3	rs10230228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143806688C>A	ENST00000408979.2	+	1	82	c.13C>A	c.(13-15)Cag>Aag	p.Q5K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	5			Q -> K (in dbSNP:rs10230228).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGAAGGCAACCAGACATGGAT	0.498													.|||	780	0.155751	0.3888	0.1297	5008	,	,		18028	0.0		0.166	False		,,,				2504	0.0092				p.Q5K		Atlas-SNP	.											OR2A2,rectum,carcinoma,-2,1	OR2A2	48	1	0			c.C13A						PASS	.	C	LYS/GLN	1435,2573		247,941,816	106	103	104		13	2.7	1	7	dbSNP_119	104	1680,6692		156,1368,2662	yes	missense	OR2A2	NM_001005480.2	53	403,2309,3478	AA,AC,CC		20.0669,35.8034,25.1616	benign	5/319	143806688	3115,9265	2004	4186	6190	SO:0001583	missense	442361	exon1			GGCAACCAGACAT		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.13C>A	7.37:g.143806688C>A	ENSP00000386209:p.Gln5Lys	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	285	127	0.445614	NM_001005480	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	364	0.16666666666666666	193	0.39227642276422764	51	0.1408839779005525	0	0.0	120	0.158311345646438	C	11.74	1.729249	0.30684	0.358034	0.200669	ENSG00000221989	ENST00000408979	T	0.00625	6.14	3.61	2.68	0.31781	.	.	.	.	.	T	0.00012	0.0000	L	0.54908	1.71	0.80722	P	0.0	B	0.15719	0.014	B	0.17433	0.018	T	0.29941	-0.9995	8	0.45353	T	0.12	.	8.8126	0.34976	0.0:0.7679:0.2321:0.0	rs10230228	5	Q6IF42	OR2A2_HUMAN	K	5	ENSP00000386209:Q5K	ENSP00000386209:Q5K	Q	+	1	0	OR2A2	143437621	0.002000	0.14202	0.996000	0.52242	0.990000	0.78478	-0.074000	0.11450	0.802000	0.34089	0.609000	0.83330	CAG	C|0.826;A|0.174	0.174	strong		0.498	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			A	143806688	C	A	143806688	3	1	22	1	0	0	0	0	1	0	0	0	10977	595	21	4	15	4	OR2A2	7	143806688	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34751	143806688	15331975	4528	9636										
OR2A2	442361	hgsc.bcm.edu	37	chr7	143807304	143807304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttgtcttagtcgggcctcTttccttgattctggtctcct	9	11	4	1	rs10252253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143807304T>C	ENST00000408979.2	+	1	698	c.629T>C	c.(628-630)cTt>cCt	p.L210P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	210			L -> P (in dbSNP:rs10252253).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCGGGCCTCTTTCCTTGATT	0.522													.|||	802	0.160144	0.4039	0.1311	5008	,	,		20164	0.0		0.166	False		,,,				2504	0.0102				p.L210P		Atlas-SNP	.											OR2A2,colon,carcinoma,0,1	OR2A2	48	1	0			c.T629C						PASS	.	T	PRO/LEU	1470,2502		249,972,765	129	134	132		629	3.5	0	7	dbSNP_119	132	1680,6688		159,1362,2663	yes	missense	OR2A2	NM_001005480.2	98	408,2334,3428	CC,CT,TT		20.0765,37.0091,25.5267	benign	210/319	143807304	3150,9190	1986	4184	6170	SO:0001583	missense	442361	exon1			GGCCTCTTTCCTT		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.629T>C	7.37:g.143807304T>C	ENSP00000386209:p.Leu210Pro	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	116	65	0.560345	NM_001005480	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	372	0.17032967032967034	200	0.4065040650406504	52	0.143646408839779	0	0.0	120	0.158311345646438	T	9.379	1.072517	0.20147	0.370091	0.200765	ENSG00000221989	ENST00000408979	T	0.49432	0.78	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.293273	0.18405	U	0.142236	T	0.00012	0.0000	M	0.87900	2.915	0.38232	P	0.05894100000000002	B	0.31383	0.321	B	0.43728	0.429	T	0.40496	-0.9560	9	0.59425	D	0.04	-12.3573	10.1929	0.43037	0.0:0.0:0.0:1.0	rs10252253;rs59481350;rs10252253	210	Q6IF42	OR2A2_HUMAN	P	210	ENSP00000386209:L210P	ENSP00000386209:L210P	L	+	2	0	OR2A2	143438237	0.001000	0.12720	0.044000	0.18714	0.012000	0.07955	1.019000	0.30014	1.576000	0.49790	0.418000	0.28097	CTT	T|0.806;C|0.194	0.194	strong		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			C	143807304	T	C	143807304	3	2	22	1	0	0	0	0	1	0	0	0	10977	1609	56	3	631	3	OR2A2	7	143807304	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	616	143807304	15331359	4529	9637										
OR2A14	135941	hgsc.bcm.edu	37	chr7	143826603	143826603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccccttacgttacaataGcctcatgagctggagagtgt	9	12	1	2	rs2961160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143826603G>T	ENST00000408899.2	+	1	453	c.398G>T	c.(397-399)aGc>aTc	p.S133I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	133			S -> I (in dbSNP:rs2961160). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:14983052}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CGTTACAATAGCCTCATGAGC	0.517													T|||	3305	0.659944	0.7579	0.7435	5008	,	,		21600	0.7371		0.4841	False		,,,				2504	0.5695				p.S133I		Atlas-SNP	.											OR2A14,NS,carcinoma,+1,1	OR2A14	66	1	0			c.G398T						PASS	.	T	ILE/SER	3225,1095		1205,815,140	191	198	196		398	3	0.4	7	dbSNP_101	196	4555,3971		1243,2069,951	yes	missense	OR2A14	NM_001001659.1	142	2448,2884,1091	TT,TG,GG		46.5752,25.3472,39.4364	benign	133/311	143826603	7780,5066	2160	4263	6423	SO:0001583	missense	135941	exon1			ACAATAGCCTCAT		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.398G>T	7.37:g.143826603G>T	ENSP00000386137:p.Ser133Ile	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	300	300	1	NM_001001659	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	1408	0.6446886446886447	368	0.7479674796747967	263	0.7265193370165746	427	0.7465034965034965	350	0.46174142480211083	T	1.304	-0.603996	0.03717	0.746528	0.534248	ENSG00000221938	ENST00000408899	T	0.01051	5.4	4.18	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.683580	0.11238	U	0.584973	T	0.00012	0.0000	N	0.05306	-0.075	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04165	-1.0972	9	0.39692	T	0.17	-4.6766	3.667	0.08260	0.0:0.2006:0.1941:0.6053	rs2961160;rs12703584;rs17469079;rs57543916;rs2961160	133	Q96R47	O2A14_HUMAN	I	133	ENSP00000386137:S133I	ENSP00000386137:S133I	S	+	2	0	OR2A14	143457536	0.000000	0.05858	0.381000	0.26106	0.024000	0.10985	-1.556000	0.02168	0.263000	0.21812	-0.363000	0.07495	AGC	G|0.367;T|0.633	0.633	strong		0.517	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			T	143826603	G	T	143826603	3	4	22	1	0	0	0	0	1	0	0	0	10976	971	34	4	400	4	OR2A14	7	143826603	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19299	143826603	15312060	4530	9638										
OR2A14	135941	hgsc.bcm.edu	37	chr7	143826697	143826697	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttagttctcatcctgagCctgcccttctgcgggcctca	8	16	3	1	rs2961161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143826697C>G	ENST00000408899.2	+	1	547	c.492C>G	c.(490-492)agC>agG	p.S164R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	164			S -> R (in dbSNP:rs2961161). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:14983052}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCATCCTGAGCCTGCCCTTCT	0.547													G|||	3383	0.675519	0.8154	0.745	5008	,	,		19163	0.7371		0.4851	False		,,,				2504	0.5695				p.S164R		Atlas-SNP	.											.	OR2A14	66	.	0			c.C492G						PASS	.	G	ARG/SER	3287,897		1294,699,99	211	231	224		492	2.4	1	7	dbSNP_101	224	4532,3928		1234,2064,932	no	missense	OR2A14	NM_001001659.1	110	2528,2763,1031	GG,GC,CC		46.4303,21.4388,38.1604	benign	164/311	143826697	7819,4825	2092	4230	6322	SO:0001583	missense	135941	exon1			CCTGAGCCTGCCC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.492C>G	7.37:g.143826697C>G	ENSP00000386137:p.Ser164Arg	Somatic	352	1	0.00284091		WXS	Illumina HiSeq	Phase_I	336	335	0.997024	NM_001001659	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	1418	0.6492673992673993	394	0.8008130081300813	257	0.7099447513812155	426	0.7447552447552448	341	0.449868073878628	G	0.001	-2.896744	0.00059	0.785612	0.535697	ENSG00000221938	ENST00000408899	T	0.00169	8.63	4.18	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33938	N	0.004406	T	0.00012	0.0000	N	0.01640	-0.785	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	9	0.02654	T	1	-5.8627	4.0211	0.09665	0.2932:0.1765:0.5303:0.0	rs2961161;rs12703585;rs17469121;rs33967479;rs52826416;rs61657644;rs2961161	164	Q96R47	O2A14_HUMAN	R	164	ENSP00000386137:S164R	ENSP00000386137:S164R	S	+	3	2	OR2A14	143457630	0.000000	0.05858	0.991000	0.47740	0.062000	0.15995	-3.450000	0.00466	0.167000	0.19631	-0.216000	0.12614	AGC	C|0.374;G|0.626	0.626	strong		0.547	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			G	143826697	C	G	143826697	3	3	22	1	0	0	0	0	1	0	0	0	10976	738	26	4	494	4	OR2A14	7	143826697	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94	143826697	15311966	4531	9639										
OR2A14	135941	hgsc.bcm.edu	37	chr7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcctcatgaaatcaaccaCttcttctgtgaaatcctgtc					rs66549240|rs34602346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562														2897	0.578474	0.4652	0.7147	5008	,	,		20883	0.7371		0.4831	False		,,,				2504	0.5695				p.175_176del		Pindel,Atlas-Indel	.											.	OR2A14	66	.	0			c.524_526del						PASS	.			1743,2055		447,849,603						4.2	1		dbSNP_130	199	4152,3826		1121,1910,958	no	coding	OR2A14	NM_001001659.1		1568,2759,1561	A1A1,A1R,RR		47.9569,45.8926,49.9406				5895,5881				SO:0001651	inframe_deletion	135941	exon1			.		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.525_527delCTT	7.37:g.143826733_143826735delCTT	ENSP00000386137:p.Phe177del	Somatic	353	.	.		WXS	Illumina HiSeq	Phase_I	313	61	0.195	NM_001001659	Q6IF41|Q8NGT8	In_Frame_Del	DEL	ENST00000408899.2	37	CCDS43672.1																																																																																			CTT|0.441;-|0.559	0.559	strong		0.562	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			-	143826732	CTT	-	143826730	7	5	22	1	0	1	0	1	0	0	0	0	10976	564	20	0	527	0	OR2A14	7	143826730	In_Frame_Del	DEL	CTT	TCGA-G8-6324-01A-11D-2210-10	33	143826730	15311933	4532	9640										
CTAGE4	100128553	hgsc.bcm.edu	37	chr7	143882697	143882697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctccacctcttgctccaAtcagcggtccattgtttcca	5	16	2	0	rs145692929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143882697A>G	ENST00000486333.1	+	1	2139	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	701	Pro-rich.			IS -> VR (in Ref. 1; BAF84925). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCTTGCTCCAATCAGCGGTCC	0.507																																					p.I701V		Atlas-SNP	.											CTAGE4,right_upper_lobe,carcinoma,-2,1	CTAGE4	10	1	0			c.A2101G						scavenged	.						5	8	7					7																	143882697		623	1434	2057	SO:0001583	missense	100128553	exon1			GCTCCAATCAGCG	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2101A>G	7.37:g.143882697A>G	ENSP00000419539:p.Ile701Val	Somatic	439	4	0.00911162		WXS	Illumina HiSeq	Phase_I	754	416	0.551724	NM_198495	A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	1.245	-0.620260	0.03636	.	.	ENSG00000225932	ENST00000486333	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.03011	0.0089	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.46857	-0.9161	7	0.02654	T	1	.	.	.	.	.	701	Q8IX94	CTGE4_HUMAN	V	701	ENSP00000419539:I701V	ENSP00000419539:I701V	I	+	1	0	CTAGE4	143513630	0.921000	0.31238	0.013000	0.15412	0.013000	0.08279	0.158000	0.16422	0.149000	0.19098	0.147000	0.16070	ATC	A|0.500;G|0.500	0.500	strong		0.507	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		G	143882697	A	G	143882697	3	3	22	1	0	0	0	0	1	0	0	0	3993	101	4	2	2103	2	CTAGE4	7	143882697	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55967	143882697	15255966	4533	9641										
OR2A7	401427	hgsc.bcm.edu	37	chr7	143956461	143956461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaggagatgggcttggcTggatgcaggaggttcaccag	17	7	1	1	rs199974780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:143956461T>C	ENST00000493325.1	-	1	354	c.261A>G	c.(259-261)ccA>ccG	p.P87P	RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGGGCTTGGCTGGATGCAGGA	0.572																																					p.P87P		Atlas-SNP	.											OR2A7_ENST00000493325,NS,carcinoma,0,2	OR2A7	33	2	0			c.A261G						scavenged	.						5	6	5					7																	143956461		1342	3122	4464	SO:0001819	synonymous_variant	401427	exon1			CTTGGCTGGATGC		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.261A>G	7.37:g.143956461T>C		Somatic	347	1	0.00288184		WXS	Illumina HiSeq	Phase_I	575	75	0.130435	NM_001005328	B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	CCDS55177.1																																																																																			T|0.500;C|0.500	0.500	weak		0.572	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			C	143956461	T	C	143956461	2	2	22	1	0	0	0	0	0	0	0	1	10982	1567	55	3		3	OR2A7	7	143956461	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73764	143956461	15182202	4534	9642										
OR2A1	346528	hgsc.bcm.edu	37	chr7	144015524	144015527	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgacgcagacctttctcTgtttgagttttggacacagc					rs559439902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGTT	TGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:144015524_144015527delTGTT	ENST00000408951.1	+	1	307_310	c.307_310delTGTT	c.(307-312)tgtttgfs	p.CL103fs	OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GACCTTTCTCTGTTTGAGTTTTGG	0.569														126	0.0251597	0.0908	0.0086	5008	,	,		44510	0.0		0.0	False		,,,				2504	0.0				p.102_103del		Atlas-Indel	.											.	OR2A1	10	.	0			c.306_309del						PASS	.			296,3480		1,294,1593						-5.2	0.1			171	15,6777		4,7,3385	no	frameshift	OR2A1	NM_001005287.1		5,301,4978	A1A1,A1R,RR		0.2208,7.839,2.9428				311,10257				SO:0001589	frameshift_variant	346528	exon1			.		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.307_310delTGTT	7.37:g.144015524_144015527delTGTT	ENSP00000386175:p.Cys103fs	Somatic	626	0	0		WXS	Illumina HiSeq	Phase_I	1136	133	0.117077	NM_001005287	Q6IF44|Q96R46	Frame_Shift_Del	DEL	ENST00000408951.1	37	CCDS43673.1																																																																																			.	.	none		0.569	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1			-	144015527	TGTT	-	144015524	7	5	22	1	0	1	0	1	0	0	0	0	10974	1580	55	0	309	0	OR2A1	7	144015524	Frame_Shift_Del	DEL	TGTT	TCGA-G8-6324-01A-11D-2210-10	59063	144015524	15123139	4535	9643										
ARHGEF5	7984	hgsc.bcm.edu	37	chr7	144060802	144060802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggacgaaaagagtcaaaCctttttgggaaaatcagagg	11	6	3	2	rs3823677		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:144060802C>T	ENST00000056217.5	+	2	1214	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	347					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AAGAGTCAAACCTTTTTGGGA	0.527																																					p.T347I		Atlas-SNP	.											ARHGEF5,colon,carcinoma,+1,1	ARHGEF5	73	1	0			c.C1040T						scavenged	.						62	56	58					7																	144060802		2079	3981	6060	SO:0001583	missense	7984	exon2			GTCAAACCTTTTT	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1040C>T	7.37:g.144060802C>T	ENSP00000056217:p.Thr347Ile	Somatic	1118	0	0		WXS	Illumina HiSeq	Phase_I	878	396	0.451025	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	764	0.3498168498168498	142	0.2886178861788618	126	0.34806629834254144	284	0.4965034965034965	212	0.2796833773087071	c	8.471	0.857559	0.17106	.	.	ENSG00000050327	ENST00000056217	T	0.73047	-0.71	3.54	-2.18	0.07037	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.44802	-0.9304	7	.	.	.	-0.3178	0.5401	0.00644	0.2016:0.2872:0.2203:0.2909	.	347	Q12774	ARHG5_HUMAN	I	347	ENSP00000056217:T347I	.	T	+	2	0	ARHGEF5	143691735	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.478000	0.06575	-0.083000	0.12618	-0.235000	0.12190	ACC	.	.	weak		0.527	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		T	144060802	C	T	144060802	3	4	22	1	0	0	0	0	1	0	0	0	909	507	18	2	1042	2	ARHGEF5	7	144060802	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45278	144060802	15077861	4536	9644										
CNTNAP2	26047	hgsc.bcm.edu	37	chr7	146829390	146829390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtgcctgtctttttcaaCgctacaagttacctggaggt	10	10	2	0	rs78543192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			T|||	30	0.00599042	0.0219	0.0014	5008	,	,		20040	0.0		0.0	False		,,,				2504	0.0				p.N379N		Atlas-SNP	.											CNTNAP2,colon,carcinoma,0,2	CNTNAP2	392	2	0			c.C1137T						PASS	.	T		66,4340	820.5+/-416.4	0,66,2137	126	121	122		1137	3.3	1	7	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,66,6437	TT,TC,CC		0.0,1.498,0.5075		379/1332	146829390	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	26047	exon8			TTTCAACGCTACA	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1137C>T	7.37:g.146829390C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	116	51	0.439655	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																			C|0.995;T|0.005	0.005	strong		0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146829390	C	T	146829390	2	4	22	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	146829390	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2768588	146829390	12309273	4537	9645										
PDIA4	9601	hgsc.bcm.edu	37	chr7	148701245	148701245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcccaccacgaccttgaCgggtcccttgttgttcttgg	9	14	1	1	rs61739277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:148701245C>T	ENST00000286091.4	-	10	1811	c.1579G>A	c.(1579-1581)Gtc>Atc	p.V527I		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	527	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACGACCTTGACGGGTCCCTTG	0.567													C|||	47	0.00938498	0.034	0.0029	5008	,	,		12360	0.0		0.0	False		,,,				2504	0.0				p.V527I		Atlas-SNP	.											.	PDIA4	57	.	0			c.G1579A						PASS	.	C	ILE/VAL	104,4302	83.4+/-121.9	1,102,2100	167	152	157		1579	4.9	0.8	7	dbSNP_129	157	0,8600		0,0,4300	yes	missense	PDIA4	NM_004911.4	29	1,102,6400	TT,TC,CC		0.0,2.3604,0.7996	benign	527/646	148701245	104,12902	2203	4300	6503	SO:0001583	missense	9601	exon10			CCTTGACGGGTCC	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1579G>A	7.37:g.148701245C>T	ENSP00000286091:p.Val527Ile	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	175	78	0.445714	NM_004911	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	13	0.005952380952380952	11	0.022357723577235773	2	0.0055248618784530384	0	0.0	0	0.0	C	15.92	2.975631	0.53720	0.023604	0.0	ENSG00000155660	ENST00000286091	T	0.26810	1.71	5.81	4.92	0.64577	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.056360	0.64402	D	0.000001	T	0.25306	0.0615	M	0.77406	2.37	0.80722	D	1	B	0.28419	0.211	B	0.40410	0.328	T	0.30268	-0.9984	10	0.72032	D	0.01	.	15.1664	0.72828	0.0:0.9316:0.0:0.0684	.	527	P13667	PDIA4_HUMAN	I	527	ENSP00000286091:V527I	ENSP00000286091:V527I	V	-	1	0	PDIA4	148332178	1.000000	0.71417	0.785000	0.31869	0.119000	0.20118	5.851000	0.69481	2.751000	0.94390	0.555000	0.69702	GTC	C|0.992;T|0.008	0.008	strong		0.567	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148701245	C	T	148701245	3	4	22	1	0	0	0	0	1	0	0	0	11670	536	19	1	362	1	PDIA4	7	148701245	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1871855	148701245	10437418	4538	9646										
ZNF425	155054	hgsc.bcm.edu	37	chr7	148801337	148801337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgaagcctcgtgtgctcTgtgagatgcgcgcgtcggcg	16	11	1	2	rs12704061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:148801337T>C	ENST00000378061.2	-	4	1758	c.1626A>G	c.(1624-1626)acA>acG	p.T542T		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	542					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCGTGTGCTCTGTGAGATGCG	0.637													T|||	1067	0.213059	0.3843	0.17	5008	,	,		18185	0.0923		0.2197	False		,,,				2504	0.1299				p.T542T		Atlas-SNP	.											.	ZNF425	99	.	0			c.A1626G						PASS	.	T		1543,2863	451.0+/-349.5	275,993,935	36	35	35		1626	-6.3	0	7	dbSNP_121	35	1673,6925	284.6+/-296.7	175,1323,2801	no	coding-synonymous	ZNF425	NM_001001661.2		450,2316,3736	CC,CT,TT		19.458,35.0204,24.7309		542/753	148801337	3216,9788	2203	4299	6502	SO:0001819	synonymous_variant	155054	exon4			GTGCTCTGTGAGA	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1626A>G	7.37:g.148801337T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	39	0.397959	NM_001001661	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																			T|0.773;C|0.227	0.227	strong		0.637	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		C	148801337	T	C	148801337	2	2	22	1	0	0	0	0	0	0	0	1	17896	1567	55	3		3	ZNF425	7	148801337	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	100092	148801337	10337326	4539	9647										
ZNF398	57541	hgsc.bcm.edu	37	chr7	148851273	148851273	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgaaaagacagttaccgaGcttgggaaccagctggaggg	15	7	0	2	rs3801979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:148851273G>C	ENST00000475153.1	+	2	528	c.261G>C	c.(259-261)gaG>gaC	p.E87D	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E92D			Q8TD17	ZN398_HUMAN	zinc finger protein 398	87			E -> D (in dbSNP:rs3801979). {ECO:0000269|PubMed:14702039}.		positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGTTACCGAGCTTGGGAACC	0.602													G|||	350	0.0698882	0.0893	0.0778	5008	,	,		16475	0.0536		0.0855	False		,,,				2504	0.0389				p.E87D		Atlas-SNP	.											ZNF398,colon,carcinoma,+2,1	ZNF398	54	1	0			c.G261C						PASS	.	G	,ASP/GLU	342,4064	178.7+/-207.4	18,306,1879	64	66	65		,261	0.6	0.9	7	dbSNP_107	65	709,7891	174.0+/-224.4	29,651,3620	yes	utr-5,missense	ZNF398	NM_020781.3,NM_170686.2	,45	47,957,5499	CC,CG,GG		8.2442,7.7621,8.0809	,benign	,87/643	148851273	1051,11955	2203	4300	6503	SO:0001583	missense	57541	exon2			TACCGAGCTTGGG	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.261G>C	7.37:g.148851273G>C	ENSP00000420418:p.Glu87Asp	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	114	46	0.403509	NM_170686	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	150	0.06868131868131869	41	0.08333333333333333	24	0.06629834254143646	35	0.06118881118881119	50	0.06596306068601583	G	13.10	2.137377	0.37728	0.077621	0.082442	ENSG00000197024	ENST00000475153;ENST00000540950	D;D	0.81659	-1.52;-1.52	5.18	0.615	0.17608	.	0.403521	0.21112	N	0.079980	T	0.07188	0.0182	N	0.11789	0.175	0.09310	P	0.9999999999555069	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.24657	-1.0154	9	0.33940	T	0.23	-5.7211	7.1697	0.25712	0.0:0.2554:0.4316:0.313	rs3801979;rs52825319;rs3801979	92;87	B4DXA9;Q8TD17	.;ZN398_HUMAN	D	87;92	ENSP00000420418:E87D;ENSP00000439340:E92D	ENSP00000420418:E87D	E	+	3	2	ZNF398	148482206	0.931000	0.31567	0.949000	0.38748	0.925000	0.55904	-0.236000	0.09003	0.141000	0.18875	0.655000	0.94253	GAG	G|0.925;C|0.075	0.075	strong		0.602	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			C	148851273	G	C	148851273	3	2	22	1	0	0	0	0	1	0	0	0	17882	962	34	4	267	4	ZNF398	7	148851273	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49936	148851273	10287390	4540	9648										
ZNF212	7988	hgsc.bcm.edu	37	chr7	148947564	148947564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagaggcggctggagaaCgtggagaacctgctgcgcaa	16	10	0	3	rs138413836	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:148947564C>T	ENST00000335870.2	+	2	467	c.339C>T	c.(337-339)aaC>aaT	p.N113N		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCTGGAGAACGTGGAGAACC	0.617													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		15049	0.0		0.0	False		,,,				2504	0.0				p.N113N		Atlas-SNP	.											.	ZNF212	28	.	0			c.C339T						PASS	.	C		33,4373	37.6+/-69.7	0,33,2170	68	83	78		339	3.2	1	7	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	ZNF212	NM_012256.3		0,33,6470	TT,TC,CC		0.0,0.749,0.2537		113/496	148947564	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	7988	exon2			GGAGAACGTGGAG	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.339C>T	7.37:g.148947564C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	104	59	0.567308	NM_012256	B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	CCDS5896.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.867	1.197790	0.22037	0.00749	0.0	ENSG00000170260	ENST00000481584	.	.	.	5.95	3.17	0.36434	.	.	.	.	.	T	0.49115	0.1538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44922	-0.9296	4	.	.	.	-30.1409	7.8161	0.29260	0.0:0.7392:0.0:0.2608	.	.	.	.	C	11	.	.	R	+	1	0	ZNF212	148578497	0.992000	0.36948	1.000000	0.80357	0.983000	0.72400	1.139000	0.31504	0.412000	0.25729	-0.222000	0.12452	CGT	C|0.999;T|0.001	0.001	strong		0.617	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		T	148947564	C	T	148947564	2	4	22	1	0	0	0	0	0	0	0	1	17765	535	19	1		1	ZNF212	7	148947564	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96291	148947564	10191099	4541	9649										
ZNF746	155061	hgsc.bcm.edu	37	chr7	149174758	149174758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggctgcccacgcctccacGcccagggcctgctgctcctg	11	21	0	0	rs61746598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149174758G>A	ENST00000340622.3	-	5	889	c.609C>T	c.(607-609)ggC>ggT	p.G203G	ZNF746_ENST00000458143.2_Silent_p.G203G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	203					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACGCCTCCACGCCCAGGGCCT	0.667													G|||	174	0.0347444	0.1248	0.013	5008	,	,		16240	0.0		0.0	False		,,,				2504	0.0				p.G203G		Atlas-SNP	.											.	ZNF746	68	.	0			c.C609T						PASS	.	G	,	528,3878	228.1+/-243.1	33,462,1708	27	30	29		609,609	-6.2	0.7	7	dbSNP_129	29	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	ZNF746	NM_001163474.1,NM_152557.4	,	33,465,6005	AA,AG,GG		0.0349,11.9837,4.0827	,	203/646,203/645	149174758	531,12475	2203	4300	6503	SO:0001819	synonymous_variant	155061	exon5			CTCCACGCCCAGG	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.609C>T	7.37:g.149174758G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	85	47	0.552941	NM_001163474	A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	CCDS5897.1																																																																																			G|0.960;A|0.040	0.040	strong		0.667	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		A	149174758	G	A	149174758	2	1	22	1	0	0	0	0	0	0	0	1	18126	1074	38	1		1	ZNF746	7	149174758	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	227194	149174758	9963905	4542	9650										
ZNF467	168544	hgsc.bcm.edu	37	chr7	149462055	149462055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcgcaggcgtgggggcgGctgccagtgtgcaccgcctg	19	13	0	0	rs863021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149462055G>A	ENST00000302017.3	-	5	1949	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	512					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)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTGGGGGCGGCTGCCAGTGT	0.726													G|||	330	0.0658946	0.239	0.0173	5008	,	,		8834	0.0		0.002	False		,,,				2504	0.0				p.S512S		Atlas-SNP	.											.	ZNF467	50	.	0			c.C1536T						PASS	.	G		861,3477		106,649,1414	16	21	19		1536	-4.4	1	7	dbSNP_86	19	20,8504		1,18,4243	no	coding-synonymous	ZNF467	NM_207336.1		107,667,5657	AA,AG,GG		0.2346,19.8479,6.8496		512/596	149462055	881,11981	2169	4262	6431	SO:0001819	synonymous_variant	168544	exon5			GGGGCGGCTGCCA	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1536C>T	7.37:g.149462055G>A		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	17	8	0.470588	NM_207336		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			G|0.947;A|0.053	0.053	strong		0.726	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		A	149462055	G	A	149462055	2	1	22	1	0	0	0	0	0	0	0	1	17924	1194	42	2		2	ZNF467	7	149462055	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	287297	149462055	9676608	4543	9651										
SSPO	23145	hgsc.bcm.edu	37	chr7	149474393	149474393	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgcccggccctggggacAaagctggtgggatggcagct	17	12	0	0	rs709061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149474393A>G	ENST00000378016.2	+	0	437							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)			CCCTGGGGACAAAGCTGGTGG	0.657													G|||	1470	0.29353	0.7352	0.1427	5008	,	,		15625	0.1131		0.17	False		,,,				2504	0.1166				p.Q146R		Atlas-SNP	.											.	.	.	.	0			c.A437G						PASS	.	G	ARG/GLN	2144,1706		593,958,374	8	11	10		437	-0.2	0.5	7	dbSNP_86	10	1170,6872		105,960,2956	yes	missense	SSPO	NM_198455.2	43	698,1918,3330	GG,GA,AA		14.5486,44.3117,27.8675	benign	146/5148	149474393	3314,8578	1925	4021	5946			23145	exon4			GGGGACAAAGCTG	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		7.37:g.149474393A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	84	83	0.988095	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.738;G|0.262	0.262	strong		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149474393	A	G	149474393	1	3	22	0	1	0	0	0	0	0	0	0	15188	130	5	2		2	SSPO	7	149474393	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12338	149474393	9664270	4544	9652										
SSPO	23145	hgsc.bcm.edu	37	chr7	149477544	149477544	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctatgtacccggtgacaccGtgcgccagctgtgtaacccc	11	15	0	1	rs855677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149477544G>A	ENST00000378016.2	+	0	1615							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)			CGGTGACACCGTGCGCCAGCT	0.642													G|||	121	0.0241613	0.0893	0.0043	5008	,	,		19178	0.0		0.0	False		,,,				2504	0.0				p.V539M		Atlas-SNP	.											.	.	.	.	0			c.G1615A						PASS	.	G		253,4041		9,235,1903	31	38	36		1617	3.1	0	7	dbSNP_86	36	3,8479		0,3,4238	no	coding-notMod3	SSPO	NM_198455.2		9,238,6141	AA,AG,GG		0.0354,5.8919,2.0038			149477544	256,12520	2147	4241	6388			23145	exon12			GACACCGTGCGCC	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		7.37:g.149477544G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	121	53	0.438017	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.955;T|0.023	.	strong		0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149477544	G	A	149477544	1	1	22	0	1	0	0	0	0	0	0	0	15188	1145	40	1		1	SSPO	7	149477544	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3151	149477544	9661119	4545	9653										
SSPO	23145	hgsc.bcm.edu	37	chr7	149479335	149479335	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgacgctgggagctgcctGcacgccatctccgtctccct	11	17	2	0	rs855680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149479335G>C	ENST00000378016.2	+	0	1848							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)			GGAGCTGCCTGCACGCCATCT	0.637													C|||	829	0.165535	0.3782	0.0807	5008	,	,		18920	0.0972		0.0696	False		,,,				2504	0.1074				p.L616L		Atlas-SNP	.											.	.	.	.	0			c.G1848C						PASS	.	C		1349,2911		218,913,999	34	41	38		1850	3.1	0.9	7	dbSNP_86	38	588,7880		31,526,3677	yes	coding-notMod3	SSPO	NM_198455.2		249,1439,4676	CC,CG,GG		6.9438,31.6667,15.2184			149479335	1937,10791	2130	4234	6364			23145	exon14			CTGCCTGCACGCC	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		7.37:g.149479335G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				G|0.868;C|0.132	0.132	strong		0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149479335	G	C	149479335	1	2	22	0	1	0	0	0	0	0	0	0	15188	1306	46	4		4	SSPO	7	149479335	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1791	149479335	9659328	4546	9654										
SSPO	23145	hgsc.bcm.edu	37	chr7	149480091	149480092	+	RNA	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagcctacatcaccctggaINScccccgccatgcccaccagg					rs144883973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149480091_149480092insC	ENST00000378016.2	+	0	2057_2058							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)			ATCACCCTGGACCCCCGCCATG	0.653													CCCCC|CCCCC|CCCCCC|insertion	131	0.0261581	0.0946	0.0086	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0				p.D686fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.2057_2058insC						PASS	.			263,3523		27,209,1657						4.2	1		dbSNP_134	31	27,7833		1,25,3904	no	frameshift	SSPO	NM_198455.2		28,234,5561	A1A1,A1R,RR		0.3435,6.9466,2.4901				290,11356						23145	exon15			.	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		7.37:g.149480096_149480096dupC		Somatic	217	.	.		WXS	Illumina HiSeq	Phase_I	217	71	0.327	NM_198455	Q76B61	Frame_Shift_Ins	INS	ENST00000378016.2	37																																																																																				-|0.979;C|0.021	0.021	strong		0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149480092	-	C	149480091	6	5	22	0	1	1	1	0	0	0	0	0	15188	275	10	0		0	SSPO	7	149480091	RNA	INS	-	TCGA-G8-6324-01A-11D-2210-10	756	149480091	9658572	4547	9655										
SSPO	23145	hgsc.bcm.edu	37	chr7	149481205	149481205	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccctggcagtgccaccaTgaaggagtgcaaccgctggt	13	13	0	1	rs73727609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149481205T>C	ENST00000378016.2	+	0	2687							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)			AGTGCCACCATGAAGGAGTGC	0.652													T|||	76	0.0151757	0.056	0.0029	5008	,	,		17147	0.0		0.0	False		,,,				2504	0.0				p.M896T		Atlas-SNP	.											.	.	.	.	0			c.T2687C						PASS	.	T		157,3863		1,155,1854	14	18	17		2689	1.3	0	7	dbSNP_130	17	2,8280		0,2,4139	yes	coding-notMod3	SSPO	NM_198455.2		1,157,5993	CC,CT,TT		0.0241,3.9055,1.2925			149481205	159,12143	2010	4141	6151			23145	exon18			CCACCATGAAGGA	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		7.37:g.149481205T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	65	28	0.430769	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.986;C|0.014	0.014	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149481205	T	C	149481205	1	2	22	0	1	0	0	0	0	0	0	0	15188	1464	51	2		2	SSPO	7	149481205	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1114	149481205	9657458	4548	9656										
SSPO	23145	hgsc.bcm.edu	37	chr7	149484830	149484830	+	RNA	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctcttcacattatgccacGcggaggtccccccgcagcag					rs137977793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149484830delG	ENST00000378016.2	+	0	3652							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)			ATTATGCCACGCGGAGGTCCC	0.667													G|G|-|deletion	82	0.0163738	0.0598	0.0029	5008	,	,		17852	0.0		0.001	False		,,,				2504	0.0				p.H1217fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.3651delC						PASS	.			183,3691		17,149,1771	8	12	11			-4	0	7	dbSNP_134	11	3,7937		1,1,3968	no	frameshift	SSPO	NM_198455.2		18,150,5739	A1A1,A1R,RR		0.0378,4.7238,1.5744			149484830	186,11628	2003	4151	6154			23145	exon25			.	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		7.37:g.149484830delG		Somatic	52	.	.		WXS	Illumina HiSeq	Phase_I	46	11	0.239	NM_198455	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																				G|0.985;-|0.015	0.015	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				-	149484830	G	-	149484830	6	5	22	0	1	1	0	1	0	0	0	0	15188	1087	38	0		0	SSPO	7	149484830	RNA	DEL	G	TCGA-G8-6324-01A-11D-2210-10	3625	149484830	9653833	4549	9657										
SSPO	23145	hgsc.bcm.edu	37	chr7	149485059	149485059	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtagccaggagctctgcTgtgagtgtgccccgccctca	14	14	2	1	rs709060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149485059T>C	ENST00000378016.2	+	0	3814							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)			GGAGCTCTGCTGTGAGTGTGC	0.617													C|||	524	0.104633	0.1445	0.0865	5008	,	,		17191	0.0942		0.0954	False		,,,				2504	0.0838				p.S1272P		Atlas-SNP	.											.	.	.	.	0			c.T3814C						PASS	.	C		495,3563		29,437,1563	12	17	15		3818	3.8	1	7	dbSNP_86	15	730,7600		32,666,3467	yes	coding-notMod3-near-splice	SSPO	NM_198455.2		61,1103,5030	CC,CT,TT		8.7635,12.1981,9.8886			149485059	1225,11163	2029	4165	6194			23145	exon26			CTCTGCTGTGAGT	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		7.37:g.149485059T>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.893;C|0.107	0.107	strong		0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149485059	T	C	149485059	1	2	22	0	1	0	0	0	0	0	0	0	15188	1594	55	3		3	SSPO	7	149485059	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	229	149485059	9653604	4550	9658										
SSPO	23145	hgsc.bcm.edu	37	chr7	149485987	149485987	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgacaaccaggacgactgTggcgatggctctgatgagga	15	8	1	3	rs893597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149485987T>A	ENST00000378016.2	+	0	4206							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)			AGGACGACTGTGGCGATGGCT	0.582													T|||	131	0.0261581	0.0946	0.0086	5008	,	,		22616	0.0		0.0	False		,,,				2504	0.0				p.C1402X		Atlas-SNP	.											.	.	.	.	0			c.T4206A						PASS	.	T		277,4091		10,257,1917	83	87	86		4210	1.2	1	7	dbSNP_86	86	4,8564		0,4,4280	yes	coding-notMod3	SSPO	NM_198455.2		10,261,6197	AA,AT,TT		0.0467,6.3416,2.1722			149485987	281,12655	2184	4284	6468			23145	exon29			CGACTGTGGCGAT	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		7.37:g.149485987T>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	190	90	0.473684	NM_198455	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.977;A|0.023	0.023	strong		0.582	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149485987	T	A	149485987	1	1	22	0	1	0	0	0	0	0	0	0	15188	1702	59	5		5	SSPO	7	149485987	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	928	149485987	9652676	4551	9659										
SSPO	23145	hgsc.bcm.edu	37	chr7	149486294	149486294	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggggcagatgacttgcAgctccggccactgcctgccc	15	14	0	2	rs855691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149486294A>G	ENST00000378016.2	+	0	4270							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)			GATGACTTGCAGCTCCGGCCA	0.667													A|||	454	0.090655	0.1331	0.0634	5008	,	,		17034	0.0972		0.0656	False		,,,				2504	0.0716				p.S1424G		Atlas-SNP	.											.	.	.	.	0			c.A4270G						PASS	.	A		439,3871		26,387,1742	19	24	22		4274	2.2	1	7	dbSNP_86	22	530,7980		27,476,3752	yes	coding-notMod3	SSPO	NM_198455.2		53,863,5494	GG,GA,AA		6.228,10.1856,7.5585			149486294	969,11851	2155	4255	6410			23145	exon30			ACTTGCAGCTCCG	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		7.37:g.149486294A>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	81	47	0.580247	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.003;G|0.087	0.087	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149486294	A	G	149486294	1	3	22	0	1	0	0	0	0	0	0	0	15188	188	7	3		3	SSPO	7	149486294	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	307	149486294	9652369	4552	9660										
SSPO	23145	hgsc.bcm.edu	37	chr7	149486367	149486367	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagatggcacggatgagcCgagctatccgtgcccccagg	15	12	0	2	rs855692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149486367C>A	ENST00000378016.2	+	0	4343							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)			ACGGATGAGCCGAGCTATCCG	0.687													A|||	158	0.0315495	0.1029	0.0115	5008	,	,		16290	0.004		0.0	False		,,,				2504	0.0102				p.P1448Q		Atlas-SNP	.											.	.	.	.	0			c.C4343A						PASS	.	A		317,4079		13,291,1894	24	28	27		4347	0.9	0.5	7	dbSNP_86	27	5,8583		0,5,4289	yes	coding-notMod3	SSPO	NM_198455.2		13,296,6183	AA,AC,CC		0.0582,7.2111,2.48			149486367	322,12662	2198	4294	6492			23145	exon30			ATGAGCCGAGCTA	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		7.37:g.149486367C>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	87	47	0.54023	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.968;A|0.032	0.032	strong		0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149486367	C	A	149486367	1	1	22	0	1	0	0	0	0	0	0	0	15188	652	23	4		4	SSPO	7	149486367	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73	149486367	9652296	4553	9661										
SSPO	23145	hgsc.bcm.edu	37	chr7	149486420	149486420	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccgatggacgctgcctgCcgccggccctgctctgcgat	14	16	1	0	rs855693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149486420C>G	ENST00000378016.2	+	0	4396							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)			ACGCTGCCTGCCGCCGGCCCT	0.677													C|||	135	0.0269569	0.0976	0.0086	5008	,	,		16567	0.0		0.0	False		,,,				2504	0.0				p.P1466A		Atlas-SNP	.											.	.	.	.	0			c.C4396G						PASS	.	C		238,4158		9,220,1969	20	24	22		4400	4.6	1	7	dbSNP_86	22	4,8582		0,4,4289	yes	coding-notMod3	SSPO	NM_198455.2		9,224,6258	GG,GC,CC		0.0466,5.414,1.8641			149486420	242,12740	2198	4293	6491			23145	exon30			TGCCTGCCGCCGG	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		7.37:g.149486420C>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.979;G|0.021	0.021	strong		0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149486420	C	G	149486420	1	3	22	0	1	0	0	0	0	0	0	0	15188	739	26	4		4	SSPO	7	149486420	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53	149486420	9652243	4554	9662										
SSPO	23145	hgsc.bcm.edu	37	chr7	149486726	149486726	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggggaggtgtcctgtgtTgatggcacctgcctgggggc	18	11	0	1	rs855695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149486726T>C	ENST00000378016.2	+	0	4500							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)			TGTCCTGTGTTGATGGCACCT	0.637													C|||	161	0.0321486	0.1059	0.0115	5008	,	,		18130	0.004		0.0	False		,,,				2504	0.0092				p.V1500V		Atlas-SNP	.											.	.	.	.	0			c.T4500C						PASS	.	C		300,3736		11,278,1729	24	31	29		4504	-9.6	0	7	dbSNP_86	29	6,8338		0,6,4166	yes	coding-notMod3	SSPO	NM_198455.2		11,284,5895	CC,CT,TT		0.0719,7.4331,2.4717			149486726	306,12074	2018	4172	6190			23145	exon31			CTGTGTTGATGGC	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		7.37:g.149486726T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	127	77	0.606299	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				T|0.974;C|0.026	0.026	strong		0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149486726	T	C	149486726	1	2	22	0	1	0	0	0	0	0	0	0	15188	1799	63	2		2	SSPO	7	149486726	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	306	149486726	9651937	4555	9663										
SSPO	23145	hgsc.bcm.edu	37	chr7	149488909	149488909	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccctgcctcacagtggaCggtgaatggagcacctggtc	12	14	1	1	rs893600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149488909C>T	ENST00000378016.2	+	0	5250							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)			TCACAGTGGACGGTGAATGGA	0.657													C|||	131	0.0261581	0.0946	0.0086	5008	,	,		18103	0.0		0.0	False		,,,				2504	0.0				p.D1750D		Atlas-SNP	.											.	.	.	.	0			c.C5250T						PASS	.	C		247,3859		6,235,1812	14	18	16		5254	-5.8	0.4	7	dbSNP_86	16	6,8318		0,6,4156	yes	coding-notMod3	SSPO	NM_198455.2		6,241,5968	TT,TC,CC		0.0721,6.0156,2.0354			149488909	253,12177	2053	4162	6215			23145	exon35			AGTGGACGGTGAA	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		7.37:g.149488909C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	159	77	0.484277	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.979;T|0.021	0.021	strong		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149488909	C	T	149488909	1	4	22	0	1	0	0	0	0	0	0	0	15188	535	19	1		1	SSPO	7	149488909	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2183	149488909	9649754	4556	9664										
SSPO	23145	hgsc.bcm.edu	37	chr7	149488991	149488991	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcggcaacggcagtgccacTcaccccagaatgggggccgc	14	16	1	1	rs893601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149488991T>C	ENST00000378016.2	+	0	5332							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)			GCAGTGCCACTCACCCCAGAA	0.662													C|||	202	0.0403355	0.1029	0.0144	5008	,	,		16534	0.004		0.003	False		,,,				2504	0.0501				p.S1778P		Atlas-SNP	.											.	.	.	.	0			c.T5332C						PASS	.	C		297,3797		12,273,1762	19	23	22		5336	4.8	0.1	7	dbSNP_86	22	18,8330		0,18,4156	yes	coding-notMod3	SSPO	NM_198455.2		12,291,5918	CC,CT,TT		0.2156,7.2545,2.5317			149488991	315,12127	2047	4174	6221			23145	exon35			TGCCACTCACCCC	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		7.37:g.149488991T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	83	40	0.481928	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.976;C|0.024	0.024	strong		0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149488991	T	C	149488991	1	2	22	0	1	0	0	0	0	0	0	0	15188	1551	54	3		3	SSPO	7	149488991	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82	149488991	9649672	4557	9665										
SSPO	23145	hgsc.bcm.edu	37	chr7	149489037	149489037	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcactgcccggaggccTgcacagcacccgccagacca	11	18	0	1	rs1635802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149489037T>C	ENST00000378016.2	+	0	5378							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)			CCCGGAGGCCTGCACAGCACC	0.652													C|||	202	0.0403355	0.1029	0.0144	5008	,	,		16636	0.004		0.003	False		,,,				2504	0.0501				p.L1793P		Atlas-SNP	.											.	.	.	.	0			c.T5378C						PASS	.	C		308,3816		12,284,1766	25	30	28		5382	3.9	0	7	dbSNP_89	28	19,8349		0,19,4165	no	coding-notMod3	SSPO	NM_198455.2		12,303,5931	CC,CT,TT		0.2271,7.4685,2.6177			149489037	327,12165	2062	4184	6246			23145	exon35			GAGGCCTGCACAG	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		7.37:g.149489037T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.977;C|0.023	0.023	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149489037	T	C	149489037	1	2	22	0	1	0	0	0	0	0	0	0	15188	1580	55	3		3	SSPO	7	149489037	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46	149489037	9649626	4558	9666										
SSPO	23145	hgsc.bcm.edu	37	chr7	149489048	149489048	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggaggcctgcacagcaccCgccagaccagtgagttgaag	13	14	0	3	rs893602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149489048C>T	ENST00000378016.2	+	0	5389							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)			GCACAGCACCCGCCAGACCAG	0.652													C|||	131	0.0261581	0.0946	0.0086	5008	,	,		18478	0.0		0.0	False		,,,				2504	0.0				p.R1797C		Atlas-SNP	.											.	.	.	.	0			c.C5389T						PASS	.	C		257,3869		9,239,1815	28	32	31		5393	3	0	7	dbSNP_86	31	4,8368		0,4,4182	yes	coding-notMod3	SSPO	NM_198455.2		9,243,5997	TT,TC,CC		0.0478,6.2288,2.0883			149489048	261,12237	2063	4186	6249			23145	exon35			AGCACCCGCCAGA	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		7.37:g.149489048C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.979;T|0.021	0.021	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149489048	C	T	149489048	1	4	22	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149489048	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11	149489048	9649615	4559	9667										
SSPO	23145	hgsc.bcm.edu	37	chr7	149489443	149489443	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggtggtgtgtgtggcccCggcagtgcccctgcctggtg	19	11	0	0	rs893603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149489443C>A	ENST00000378016.2	+	0	5596							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)			TGTGTGGCCCCGGCAGTGCCC	0.697													C|||	202	0.0403355	0.1029	0.0144	5008	,	,		16052	0.004		0.003	False		,,,				2504	0.0501				p.R1866R		Atlas-SNP	.											.	.	.	.	0			c.C5596A						PASS	.	C		301,3865		12,277,1794	13	21	19		5600	-1.9	0.1	7	dbSNP_86	19	18,8382		0,18,4182	no	coding-notMod3	SSPO	NM_198455.2		12,295,5976	AA,AC,CC		0.2143,7.2252,2.5386			149489443	319,12247	2083	4200	6283			23145	exon37			TGGCCCCGGCAGT	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		7.37:g.149489443C>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	112	37	0.330357	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.975;A|0.025	0.025	strong		0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149489443	C	A	149489443	1	1	22	0	1	0	0	0	0	0	0	0	15188	643	23	4		4	SSPO	7	149489443	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	395	149489443	9649220	4560	9668										
SSPO	23145	hgsc.bcm.edu	37	chr7	149493519	149493519	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactttcggccgcatggtgCaggcgaggtttgtcagggtg	18	8	1	0	rs57595625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149493519C>T	ENST00000378016.2	+	0	6595							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)			CCGCATGGTGCAGGCGAGGTT	0.617													C|||	145	0.0289537	0.1059	0.0072	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.0				p.Q2199X		Atlas-SNP	.											.	.	.	.	0			c.C6595T						PASS	.	C		345,3947		8,329,1809	100	114	110		6599	3.6	1	7	dbSNP_129	110	3,8491		0,3,4244	yes	coding-notMod3	SSPO	NM_198455.2		8,332,6053	TT,TC,CC		0.0353,8.0382,2.7217			149493519	348,12438	2146	4247	6393			23145	exon44			ATGGTGCAGGCGA	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		7.37:g.149493519C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	139	73	0.52518	NM_198455	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.972;T|0.028	0.028	strong		0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149493519	C	T	149493519	1	4	22	0	1	0	0	0	0	0	0	0	15188	711	25	2		2	SSPO	7	149493519	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4076	149493519	9645144	4561	9669										
SSPO	23145	hgsc.bcm.edu	37	chr7	149498893	149498893	+	RNA	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagcactgtgcccttcatgAtgcctaccatggccctgcct					rs77858430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149498893A>G	ENST00000378016.2	+	0	7345							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)			GCCCTTCATGATGCCTACCAT	0.612													G|||	671	0.133986	0.2753	0.072	5008	,	,		18169	0.0833		0.0636	False		,,,				2504	0.1115				p.M2449V		Atlas-SNP	.											.	.	.	.	0			c.A7345G						PASS	.	G		903,3281		93,717,1282	56	57	57		7349	2.9	0.3	7	dbSNP_132	57	534,7920		26,482,3719	yes	coding-notMod3	SSPO	NM_198455.2		119,1199,5001	GG,GA,AA		6.3165,21.5822,11.3705			149498893	1437,11201	2092	4227	6319			23145	exon50			TTCATGATGCCTA	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		7.37:g.149498893A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.897;G|0.103	0.103	strong		0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149498893	A	G	149498893	1	3	22	0	1	0	0	0	0	0	0	0	15188	333	12	2		2	SSPO	7	149498893	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5374	149498893	9639770	4562	9670	200	2								
SSPO	23145	hgsc.bcm.edu	37	chr7	149498903	149498903	+	RNA	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccttcatgatgcctaccaTggccctgcctgggcttccag					rs2074689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149498903T>C	ENST00000378016.2	+	0	7355							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)			ATGCCTACCATGGCCCTGCCT	0.617													C|||	1074	0.214457	0.5658	0.0994	5008	,	,		17959	0.0833		0.0636	False		,,,				2504	0.1115				p.M2452T		Atlas-SNP	.											.	.	.	.	0			c.T7355C						PASS	.	C		1836,2350		375,1086,632	49	51	50		7359	1.8	0	7	dbSNP_96	50	547,7891		27,493,3699	no	coding-notMod3	SSPO	NM_198455.2		402,1579,4331	CC,CT,TT		6.4826,43.8605,18.8767			149498903	2383,10241	2093	4219	6312			23145	exon50			CTACCATGGCCCT	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		7.37:g.149498903T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.858;C|0.142	0.142	strong		0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149498903	T	C	149498903	1	2	22	0	1	0	0	0	0	0	0	0	15188	1464	51	2		2	SSPO	7	149498903	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	149498903	9639760	4563	9671	200	2								
SSPO	23145	hgsc.bcm.edu	37	chr7	149498945	149498945	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaagggccctctgttcccCgagccagctgagctgtggca	12	15	2	1	rs73727615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149498945C>T	ENST00000378016.2	+	0	7397							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)			CTCTGTTCCCCGAGCCAGCTG	0.657													C|||	90	0.0179712	0.0635	0.0086	5008	,	,		18616	0.0		0.0	False		,,,				2504	0.0				p.P2466L		Atlas-SNP	.											.	.	.	.	0			c.C7397T						PASS	.	C		208,4004		3,202,1901	31	34	33		7401	2.5	0.1	7	dbSNP_130	33	3,8429		0,3,4213	no	coding-notMod3	SSPO	NM_198455.2		3,205,6114	TT,TC,CC		0.0356,4.9383,1.6688			149498945	211,12433	2106	4216	6322			23145	exon50			GTTCCCCGAGCCA	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		7.37:g.149498945C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	78	44	0.564103	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.982;T|0.018	0.018	strong		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149498945	C	T	149498945	1	4	22	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149498945	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42	149498945	9639718	4564	9672										
SSPO	23145	hgsc.bcm.edu	37	chr7	149499254	149499254	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagctgcccgcgtgaccGgttccgaagccagtcctgct	14	15	0	1	rs59522380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149499254G>A	ENST00000378016.2	+	0	7622							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)			CCGCGTGACCGGTTCCGAAGC	0.687													G|||	298	0.0595048	0.2171	0.0159	5008	,	,		15602	0.0		0.0	False		,,,				2504	0.0				p.R2541Q		Atlas-SNP	.											.	.	.	.	0			c.G7622A						PASS	.	G		441,3035		13,415,1310	4	6	5		7626	-4	0	7	dbSNP_129	5	7,7421		0,7,3707	no	coding-notMod3	SSPO	NM_198455.2		13,422,5017	AA,AG,GG		0.0942,12.687,4.1086			149499254	448,10456	1738	3714	5452			23145	exon51			GTGACCGGTTCCG	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		7.37:g.149499254G>A		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.945;A|0.055	0.055	strong		0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149499254	G	A	149499254	1	1	22	0	1	0	0	0	0	0	0	0	15188	1116	39	1		1	SSPO	7	149499254	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	309	149499254	9639409	4565	9673										
SSPO	23145	hgsc.bcm.edu	37	chr7	149499284	149499284	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcctgctttgtgcaggCctgcccaggtaatcctgcac	10	15	0	0	rs56163742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149499284C>T	ENST00000378016.2	+	0	7652							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)			TTTGTGCAGGCCTGCCCAGGT	0.677													C|||	743	0.148363	0.2549	0.0951	5008	,	,		16105	0.0853		0.1074	False		,,,				2504	0.1493				p.A2551V		Atlas-SNP	.											.	.	.	.	0			c.C7652T						PASS	.	C		595,2759		48,499,1130	4	6	5		7656	4.7	1	7	dbSNP_129	5	595,6489		28,539,2975	no	coding-notMod3	SSPO	NM_198455.2		76,1038,4105	TT,TC,CC		8.3992,17.74,11.4007			149499284	1190,9248	1677	3542	5219			23145	exon51			TGCAGGCCTGCCC	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		7.37:g.149499284C>T		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	34	15	0.441176	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.873;T|0.127	0.127	strong		0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149499284	C	T	149499284	1	4	22	0	1	0	0	0	0	0	0	0	15188	739	26	2		2	SSPO	7	149499284	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30	149499284	9639379	4566	9674										
SSPO	23145	hgsc.bcm.edu	37	chr7	149503843	149503843	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagtgcccagagaacatgTtgttccgctcagcagagcag	11	13	1	2	rs10260959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149503843T>G	ENST00000378016.2	+	0	8671							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)			AGAGAACATGTTGTTCCGCTC	0.617													G|||	1858	0.371006	0.7995	0.2695	5008	,	,		18911	0.2004		0.162	False		,,,				2504	0.2546				p.L2891V		Atlas-SNP	.											.	.	.	.	0			c.T8671G						PASS	.	G		2602,1348		906,790,279	29	34	33		8675	3.2	1	7	dbSNP_119	33	1362,6786		137,1088,2849	yes	coding-notMod3	SSPO	NM_198455.2		1043,1878,3128	GG,GT,TT		16.7158,34.1266,32.7657			149503843	3964,8134	1975	4074	6049			23145	exon59			AACATGTTGTTCC	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		7.37:g.149503843T>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	200	200	1	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.674;G|0.326	0.326	strong		0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149503843	T	G	149503843	1	3	22	0	1	0	0	0	0	0	0	0	15188	1722	60	5		5	SSPO	7	149503843	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4559	149503843	9634820	4567	9675										
SSPO	23145	hgsc.bcm.edu	37	chr7	149506195	149506195	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtggtggctacaggaacCgcacccgaggcagcagctgc	16	12	0	0	rs73727627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149506195C>T	ENST00000378016.2	+	0	9187							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)			CTACAGGAACCGCACCCGAGG	0.682													C|||	125	0.0249601	0.0772	0.0115	5008	,	,		13530	0.001		0.002	False		,,,				2504	0.0123				p.R3063C		Atlas-SNP	.											.	.	.	.	0			c.C9187T						PASS	.	C		235,3871		4,227,1822	16	24	22		9195	5.2	1	7	dbSNP_130	22	32,8324		0,32,4146	no	coding-notMod3	SSPO	NM_198455.2		4,259,5968	TT,TC,CC		0.383,5.7233,2.1425			149506195	267,12195	2053	4178	6231			23145	exon63			AGGAACCGCACCC	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		7.37:g.149506195C>T		Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	292	154	0.527397	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.978;T|0.022	0.022	strong		0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149506195	C	T	149506195	1	4	22	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149506195	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2352	149506195	9632468	4568	9676										
SSPO	23145	hgsc.bcm.edu	37	chr7	149509048	149509048	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagccagtgttcagcctcCtgtggccctgcccggtgcca	13	15	1	0	rs115723456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149509048C>T	ENST00000378016.2	+	0	9594							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)			GTTCAGCCTCCTGTGGCCCTG	0.697													C|||	70	0.0139776	0.053	0.0	5008	,	,		15590	0.0		0.0	False		,,,				2504	0.0				p.S3198S		Atlas-SNP	.											.	.	.	.	0			c.C9594T						PASS	.	C		162,3908		5,152,1878	30	35	34		9604	0.7	1	7	dbSNP_132	34	0,8344		0,0,4172	no	coding-notMod3	SSPO	NM_198455.2		5,152,6050	TT,TC,CC		0.0,3.9803,1.305			149509048	162,12252	2035	4172	6207			23145	exon68			AGCCTCCTGTGGC	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		7.37:g.149509048C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	104	52	0.5	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.989;T|0.011	0.011	strong		0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149509048	C	T	149509048	1	4	22	0	1	0	0	0	0	0	0	0	15188	668	24	2		2	SSPO	7	149509048	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2853	149509048	9629615	4569	9677										
SSPO	23145	hgsc.bcm.edu	37	chr7	149509064	149509064	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctgtggccctgcccggTgccatcggcaccggttctgt	12	17	1	0	rs73727632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149509064T>C	ENST00000378016.2	+	0	9610							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)			CCCTGCCCGGTGCCATCGGCA	0.697													C|||	332	0.0662939	0.2126	0.0245	5008	,	,		14721	0.004		0.005	False		,,,				2504	0.0256				p.C3204R		Atlas-SNP	.											.	.	.	.	0			c.T9610C						PASS	.	C		736,3280		63,610,1335	27	33	31		9620	3.6	0.6	7	dbSNP_130	31	51,8257		0,51,4103	yes	coding-notMod3	SSPO	NM_198455.2		63,661,5438	CC,CT,TT		0.6139,18.3267,6.3859			149509064	787,11537	2008	4154	6162			23145	exon68			GCCCGGTGCCATC	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		7.37:g.149509064T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	90	39	0.433333	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.949;C|0.051	0.051	strong		0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149509064	T	C	149509064	1	2	22	0	1	0	0	0	0	0	0	0	15188	1696	59	2		2	SSPO	7	149509064	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16	149509064	9629599	4570	9678										
SSPO	23145	hgsc.bcm.edu	37	chr7	149509079	149509079	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggtgccatcggcaccggTtctgtgccaggtcccccagt	12	17	1	0	rs73727633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149509079T>C	ENST00000378016.2	+	0	9625							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)			TCGGCACCGGTTCTGTGCCAG	0.682													T|||	330	0.0658946	0.211	0.0245	5008	,	,		14885	0.004		0.005	False		,,,				2504	0.0256				p.F3209L		Atlas-SNP	.											.	.	.	.	0			c.T9625C						PASS	.	T		726,3278		63,600,1339	29	33	32		9635	3.4	0.9	7	dbSNP_130	32	51,8273		0,51,4111	yes	coding-notMod3	SSPO	NM_198455.2		63,651,5450	CC,CT,TT		0.6127,18.1319,6.3027			149509079	777,11551	2002	4162	6164			23145	exon68			CACCGGTTCTGTG	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		7.37:g.149509079T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				T|0.957;C|0.043	0.043	strong		0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149509079	T	C	149509079	1	2	22	0	1	0	0	0	0	0	0	0	15188	1725	60	2		2	SSPO	7	149509079	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15	149509079	9629584	4571	9679										
SSPO	23145	hgsc.bcm.edu	37	chr7	149509419	149509419	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctgtgggggaggcctgCggagccggacccgggcctgt	21	11	0	0	rs740109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149509419C>T	ENST00000378016.2	+	0	9817							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)			GGGAGGCCTGCGGAGCCGGAC	0.726													C|||	1248	0.249201	0.41	0.1628	5008	,	,		13006	0.255		0.1511	False		,,,				2504	0.1881				p.R3273W		Atlas-SNP	.											.	.	.	.	0			c.C9817T						PASS	.	C		1050,2336		171,708,814	6	7	7		9827	1.5	0.9	7	dbSNP_96	7	1112,6548		106,900,2824	no	coding-notMod3	SSPO	NM_198455.2		277,1608,3638	TT,TC,CC		14.517,31.01,19.5727			149509419	2162,8884	1693	3830	5523			23145	exon69			GGCCTGCGGAGCC	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		7.37:g.149509419C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	25	10	0.4	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.776;T|0.224	0.224	strong		0.726	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149509419	C	T	149509419	1	4	22	0	1	0	0	0	0	0	0	0	15188	759	27	1		1	SSPO	7	149509419	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	340	149509419	9629244	4572	9680										
SSPO	23145	hgsc.bcm.edu	37	chr7	149509691	149509691	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggccgagtatagcccctGtggccctccgtgccctcgct	13	16	0	0	rs73727635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149509691G>A	ENST00000378016.2	+	0	9965							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)			TATAGCCCCTGTGGCCCTCCG	0.632													G|||	305	0.0609026	0.205	0.0216	5008	,	,		17503	0.004		0.003	False		,,,				2504	0.0123				p.C3322Y		Atlas-SNP	.											.	.	.	.	0			c.G9965A						PASS	.	G		732,3432		57,618,1407	73	81	79		9975	4.5	1	7	dbSNP_130	79	37,8389		0,37,4176	no	coding-notMod3	SSPO	NM_198455.2		57,655,5583	AA,AG,GG		0.4391,17.5793,6.108			149509691	769,11821	2082	4213	6295			23145	exon70			GCCCCTGTGGCCC	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		7.37:g.149509691G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	94	43	0.457447	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.960;A|0.040	0.040	strong		0.632	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149509691	G	A	149509691	1	1	22	0	1	0	0	0	0	0	0	0	15188	1377	48	2		2	SSPO	7	149509691	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	272	149509691	9628972	4573	9681										
SSPO	23145	hgsc.bcm.edu	37	chr7	149512267	149512267	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcttcctgcgtagactgCgggggtggccagagtctgca	14	11	2	2	rs142728666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149512267C>T	ENST00000378016.2	+	0	10587							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)			GCGTAGACTGCGGGGGTGGCC	0.667													C|||	46	0.0091853	0.0219	0.0029	5008	,	,		17602	0.0		0.002	False		,,,				2504	0.0133				p.C3529C		Atlas-SNP	.											.	.	.	.	0			c.C10587T						PASS	.	C		80,4040		1,78,1981	37	44	42		10597	-3	0.8	7	dbSNP_134	42	16,8358		0,16,4171	yes	coding-notMod3	SSPO	NM_198455.2		1,94,6152	TT,TC,CC		0.1911,1.9417,0.7684			149512267	96,12398	2060	4187	6247			23145	exon75			AGACTGCGGGGGT	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		7.37:g.149512267C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	75	33	0.44	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.996;T|0.004	0.004	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149512267	C	T	149512267	1	4	22	0	1	0	0	0	0	0	0	0	15188	776	27	1		1	SSPO	7	149512267	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2576	149512267	9626396	4574	9682										
SSPO	23145	hgsc.bcm.edu	37	chr7	149515824	149515824	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcatggcgcagccgcaccCgcctctgcctggctaactgc	11	18	1	0	rs745044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149515824C>T	ENST00000378016.2	+	0	11725							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)			CAGCCGCACCCGCCTCTGCCT	0.672													C|||	410	0.081869	0.2867	0.0317	5008	,	,		14119	0.0		0.007	False		,,,				2504	0.002				p.R3909C		Atlas-SNP	.											.	.	.	.	0			c.C11725T						PASS	.	C		942,3078		107,728,1175	17	20	19		11739	3.1	0.6	7	dbSNP_86	19	70,8268		0,70,4099	no	coding-notMod3	SSPO	NM_198455.2		107,798,5274	TT,TC,CC		0.8395,23.4328,8.189			149515824	1012,11346	2010	4169	6179			23145	exon83			CGCACCCGCCTCT	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		7.37:g.149515824C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.940;T|0.060	0.060	strong		0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149515824	C	T	149515824	1	4	22	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149515824	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3557	149515824	9622839	4575	9683										
SSPO	23145	hgsc.bcm.edu	37	chr7	149518148	149518148	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccactgtgcctggagccActggtcggcctggagtccct	12	16	0	0	rs10233245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149518148A>G	ENST00000378016.2	+	0	12491							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)			GCCTGGAGCCACTGGTCGGCC	0.677													G|||	2148	0.428914	0.6475	0.3646	5008	,	,		15805	0.4167		0.3062	False		,,,				2504	0.318				p.H4164R		Atlas-SNP	.											.	.	.	.	0			c.A12491G						PASS	.	G		2014,1864		612,790,537	4	7	6		12505	-1.9	1	7	dbSNP_119	6	2427,5615		449,1529,2043	no	coding-notMod3	SSPO	NM_198455.2		1061,2319,2580	GG,GA,AA		30.1791,48.066,37.2567			149518148	4441,7479	1939	4021	5960			23145	exon87			GGAGCCACTGGTC	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		7.37:g.149518148A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	43	26	0.604651	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.578;G|0.422	0.422	strong		0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149518148	A	G	149518148	1	3	22	0	1	0	0	0	0	0	0	0	15188	159	6	2		2	SSPO	7	149518148	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2324	149518148	9620515	4576	9684										
SSPO	23145	hgsc.bcm.edu	37	chr7	149519007	149519007	+	RNA	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgccctgtctcctgtggaGgtggaaaccaggtccgaacc					rs568158666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149519007delG	ENST00000378016.2	+	0	12811							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)			CTCCTGTGGAGGTGGAAACCA	0.682													GG|GG|G|deletion	26	0.00519169	0.0197	0.0	5008	,	,		16479	0.0		0.0	False		,,,				2504	0.0				p.G4270fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.12810delA						PASS	.			63,3869		2,59,1905	16	19	18			3.2	1	7		18	2,7986		1,0,3993	no	frameshift	SSPO	NM_198455.2		3,59,5898	A1A1,A1R,RR		0.025,1.6022,0.5453			149519007	65,11855	2040	4183	6223			23145	exon90			.	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		7.37:g.149519007delG		Somatic	181	.	.		WXS	Illumina HiSeq	Phase_I	198	54	0.273	NM_198455	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																				.	.	none		0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				-	149519007	G	-	149519007	6	5	22	0	1	1	0	1	0	0	0	0	15188	1000	35	0		0	SSPO	7	149519007	RNA	DEL	G	TCGA-G8-6324-01A-11D-2210-10	859	149519007	9619656	4577	9685										
SSPO	23145	hgsc.bcm.edu	37	chr7	149522163	149522163	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctctgtggaggaggctgCcgggagccatgggctcaaga	17	11	2	1	rs73727642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149522163C>G	ENST00000378016.2	+	0	13950							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)			GAGGAGGCTGCCGGGAGCCAT	0.652													C|||	192	0.0383387	0.1354	0.0187	5008	,	,		15887	0.0		0.0	False		,,,				2504	0.0				p.C4650W		Atlas-SNP	.											.	.	.	.	0			c.C13950G						PASS	.	C		374,3424		21,332,1546	19	25	23		13964	3.5	0.4	7	dbSNP_130	23	7,8195		0,7,4094	yes	coding-notMod3	SSPO	NM_198455.2		21,339,5640	GG,GC,CC		0.0853,9.8473,3.175			149522163	381,11619	1899	4101	6000			23145	exon96			AGGCTGCCGGGAG	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		7.37:g.149522163C>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	66	23	0.348485	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.974;G|0.026	0.026	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149522163	C	G	149522163	1	3	22	0	1	0	0	0	0	0	0	0	15188	747	26	4		4	SSPO	7	149522163	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3156	149522163	9616500	4578	9686										
SSPO	23145	hgsc.bcm.edu	37	chr7	149523277	149523277	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggggcactatggagcgacAtcggacttgtgaggggggtc	19	7	0	1	rs1004200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149523277A>G	ENST00000378016.2	+	0	14363							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)			ATGGAGCGACATCGGACTTGT	0.652													A|||	2248	0.448882	0.7027	0.3732	5008	,	,		19271	0.4286		0.3052	False		,,,				2504	0.3282				p.H4787R		Atlas-SNP	.											.	.	.	.	0			c.A14360G						PASS	.	A	ARG/HIS	2525,1401		843,839,281	37	46	43		14379	1.6	0	7	dbSNP_86	43	2714,5562		449,1816,1873	no	missense	SSPO	NM_198455.2	29	1292,2655,2154	GG,GA,AA		32.7936,35.6852,42.9356	benign	4787/5148	149523277	5239,6963	1963	4138	6101			23145	exon101			AGCGACATCGGAC	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		7.37:g.149523277A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.586;G|0.414	0.414	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149523277	A	G	149523277	1	3	22	0	1	0	0	0	0	0	0	0	15188	217	8	2		2	SSPO	7	149523277	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1114	149523277	9615386	4579	9687										
SSPO	23145	hgsc.bcm.edu	37	chr7	149526071	149526071	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgctgtccctcttgccGcagggaggctccgggtatgg	16	12	1	0	rs142321773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149526071G>A	ENST00000378016.2	+	0	15128							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)			CCCTCTTGCCGCAGGGAGGCT	0.667													G|||	21	0.00419329	0.0159	0.0	5008	,	,		14491	0.0		0.0	False		,,,				2504	0.0				p.R5042H		Atlas-SNP	.											.	.	.	.	0			c.G15125A						PASS	.	G	HIS/ARG	46,4080		1,44,2018	42	53	49		15144	-1.8	0	7	dbSNP_134	49	1,8405		0,1,4202	no	missense	SSPO	NM_198455.2	29	1,45,6220	AA,AG,GG		0.0119,1.1149,0.375	benign	5042/5148	149526071	47,12485	2063	4203	6266			23145	exon107			CTTGCCGCAGGGA	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		7.37:g.149526071G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	114	56	0.491228	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.997;A|0.003	0.003	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149526071	G	A	149526071	1	1	22	0	1	0	0	0	0	0	0	0	15188	1087	38	1		1	SSPO	7	149526071	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2794	149526071	9612592	4580	9688										
ZNF862	643641	hgsc.bcm.edu	37	chr7	149547273	149547273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttctgcagaggggctgtcGgaggaggttcctgtggtgtt	17	8	1	1	rs112719493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:149547273G>A	ENST00000223210.4	+	5	1208	c.963G>A	c.(961-963)tcG>tcA	p.S321S		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGGGCTGTCGGAGGAGGTTC	0.612													G|||	225	0.0449281	0.1581	0.0101	5008	,	,		15716	0.0		0.0	False		,,,				2504	0.0092				p.S321S		Atlas-SNP	.											.	ZNF862	97	.	0			c.G963A						PASS	.	G		531,3645		31,469,1588	71	78	75		963	-0.2	0.2	7	dbSNP_132	75	17,8453		0,17,4218	no	coding-synonymous	ZNF862	NM_001099220.1		31,486,5806	AA,AG,GG		0.2007,12.7155,4.3334		321/1170	149547273	548,12098	2088	4235	6323	SO:0001819	synonymous_variant	643641	exon5			GCTGTCGGAGGAG	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.963G>A	7.37:g.149547273G>A		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	228	227	0.995614	NM_001099220	A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																			G|0.960;A|0.040	0.040	strong		0.612	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		A	149547273	G	A	149547273	2	1	22	1	0	0	0	0	0	0	0	1	18192	1103	39	1		1	ZNF862	7	149547273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21202	149547273	9591390	4581	9689										
REPIN1	29803	hgsc.bcm.edu	37	chr7	150068981	150068981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctggggccccggcccagGggccgccccgcggtgaccgc	17	19	1	1	rs149624173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150068981G>A	ENST00000425389.2	+	1	729	c.651G>A	c.(649-651)agG>agA	p.R217R	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.R274R|REPIN1_ENST00000540729.1_Silent_p.R217R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Silent_p.R217R|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Silent_p.R217R	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	217					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			cccggcccaggggccgccccg	0.716													G|||	21	0.00419329	0.0159	0.0	5008	,	,		9749	0.0		0.0	False		,,,				2504	0.0				p.R274R		Atlas-SNP	.											.	REPIN1	74	.	0			c.G822A						PASS	.	G	,,,	38,3468		0,38,1715	8	10	9		822,651,651,651	1.7	0.9	7	dbSNP_134	9	0,7798		0,0,3899	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	REPIN1	NM_001099695.1,NM_001099696.2,NM_013400.3,NM_014374.3	,,,	0,38,5614	AA,AG,GG		0.0,1.0839,0.3362	,,,	274/625,217/568,217/568,217/568	150068981	38,11266	1753	3899	5652	SO:0001819	synonymous_variant	29803	exon3			GCCCAGGGGCCGC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.651G>A	7.37:g.150068981G>A		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_001099695	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																			G|0.994;A|0.006	0.006	strong		0.716	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150068981	G	A	150068981	2	1	22	1	0	0	0	0	0	0	0	1	13227	1223	43	2		2	REPIN1	7	150068981	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	521708	150068981	9069682	4582	9690										
GIMAP8	155038	hgsc.bcm.edu	37	chr7	150163837	150163837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcggctcctcctcctgggAaaatgccgctcgggaaaaag	12	13	0	0	rs2140595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150163837A>G	ENST00000307271.3	+	2	625	c.51A>G	c.(49-51)ggA>ggG	p.G17G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	17	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCTCCTGGGAAAATGCCGCT	0.512													G|||	1613	0.322085	0.3086	0.2334	5008	,	,		19150	0.4177		0.3708	False		,,,				2504	0.2546				p.G17G		Atlas-SNP	.											GIMAP8,trunk,malignant_melanoma,+1,1	GIMAP8	136	1	0			c.A51G						PASS	.	G		1393,3013		226,941,1036	58	60	59		51	-1.1	0.4	7	dbSNP_96	59	2989,5611		551,1887,1862	no	coding-synonymous	GIMAP8	NM_175571.2		777,2828,2898	GG,GA,AA		34.7558,31.616,33.6921		17/666	150163837	4382,8624	2203	4300	6503	SO:0001819	synonymous_variant	155038	exon2			CCTGGGAAAATGC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.51A>G	7.37:g.150163837A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	70	29	0.414286	NM_175571		Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																			A|0.649;G|0.351	0.351	strong		0.512	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		G	150163837	A	G	150163837	2	3	22	1	0	0	0	0	0	0	0	1	6385	233	9	2		2	GIMAP8	7	150163837	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94856	150163837	8974826	4583	9691										
GIMAP8	155038	hgsc.bcm.edu	37	chr7	150164189	150164189	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatcattattgtcttcactCggaaggatgatttgggggat	11	6	3	1	rs143212982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150164189C>A	ENST00000307271.3	+	2	977	c.403C>A	c.(403-405)Cgg>Agg	p.R135R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	135	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTCTTCACTCGGAAGGATGA	0.463																																					p.R135R		Atlas-SNP	.											GIMAP8,NS,carcinoma,-1,1	GIMAP8	136	1	0			c.C403A						PASS	.	C		37,4369	41.6+/-74.8	0,37,2166	79	75	76		403	-4.4	0	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	GIMAP8	NM_175571.2		0,38,6465	AA,AC,CC		0.0116,0.8398,0.2922		135/666	150164189	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	155038	exon2			TTCACTCGGAAGG	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.403C>A	7.37:g.150164189C>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	201	104	0.517413	NM_175571		Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																			A|0.002;C|0.998;G|0.001	0.002	strong		0.463	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150164189	C	A	150164189	2	1	22	1	0	0	0	0	0	0	0	1	6385	875	31	4		4	GIMAP8	7	150164189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	352	150164189	8974474	4584	9692										
GIMAP7	168537	hgsc.bcm.edu	37	chr7	150217089	150217089	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtgaggaccgctccctGaggatcgttctggtagggaa	16	8	1	3	rs7800829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150217089G>A	ENST00000313543.4	+	2	184	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	9	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGCTCCCTGAGGATCGTTC	0.502													G|||	1338	0.267173	0.4856	0.111	5008	,	,		19967	0.3819		0.0676	False		,,,				2504	0.1697				p.L9L		Atlas-SNP	.											.	GIMAP7	47	.	0			c.G27A						PASS	.	G		1735,2671	514.1+/-368.5	340,1055,808	64	59	61		27	3.8	1	7	dbSNP_116	61	585,8015	156.7+/-210.5	16,553,3731	no	coding-synonymous	GIMAP7	NM_153236.3		356,1608,4539	AA,AG,GG		6.8023,39.3781,17.8379		9/301	150217089	2320,10686	2203	4300	6503	SO:0001819	synonymous_variant	168537	exon2			CTCCCTGAGGATC	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.27G>A	7.37:g.150217089G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	84	37	0.440476	NM_153236		Silent	SNP	ENST00000313543.4	37	CCDS5903.1																																																																																			G|0.776;A|0.224	0.224	strong		0.502	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		A	150217089	G	A	150217089	2	1	22	1	0	0	0	0	0	0	0	1	6384	1277	45	2		2	GIMAP7	7	150217089	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52900	150217089	8921574	4585	9693										
GIMAP7	168537	hgsc.bcm.edu	37	chr7	150217248	150217248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggagagaccttcttgttgtAgacactccagggctctttga	12	9	2	3	rs3735081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150217248A>G	ENST00000313543.4	+	2	343	c.186A>G	c.(184-186)gtA>gtG	p.V62V		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	62	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTGTTGTAGACACTCCAG	0.522													G|||	3914	0.78155	0.9713	0.7277	5008	,	,		18549	0.7421		0.6302	False		,,,				2504	0.7597				p.V62V		Atlas-SNP	.											GIMAP7,NS,carcinoma,+2,1	GIMAP7	47	1	0			c.A186G						PASS	.	G		4031,375	191.2+/-216.9	1849,333,21	53	51	52		186	-7.2	0.2	7	dbSNP_107	52	5377,3223	486.1+/-371.8	1691,1995,614	no	coding-synonymous	GIMAP7	NM_153236.3		3540,2328,635	GG,GA,AA		37.4767,8.5111,27.6642		62/301	150217248	9408,3598	2203	4300	6503	SO:0001819	synonymous_variant	168537	exon2			TGTTGTAGACACT	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.186A>G	7.37:g.150217248A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_153236		Silent	SNP	ENST00000313543.4	37	CCDS5903.1																																																																																			A|0.252;G|0.748	0.748	strong		0.522	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		G	150217248	A	G	150217248	2	3	22	1	0	0	0	0	0	0	0	1	6384	407	15	3		3	GIMAP7	7	150217248	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	159	150217248	8921415	4586	9694										
GIMAP6	474344	hgsc.bcm.edu	37	chr7	150324976	150324976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagttttgctgggtatatTggtaagccttgttgctgtaa	12	4	0	0	rs11977216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150324976T>C	ENST00000328902.5	-	3	926	c.710A>G	c.(709-711)cAa>cGa	p.Q237R	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	237	AIG1-type G.		Q -> R (in dbSNP:rs11977216).			cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGTATATTGGTAAGCCTT	0.512													T|||	163	0.0325479	0.1203	0.0058	5008	,	,		23011	0.0		0.0	False		,,,				2504	0.0				p.Q307R		Atlas-SNP	.											.	GIMAP6	60	.	0			c.A920G						PASS	.	T	ARG/GLN	479,3927	224.9+/-240.9	27,425,1751	164	152	156		710	0	0	7	dbSNP_120	156	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GIMAP6	NM_024711.5	43	27,429,6047	CC,CT,TT		0.0465,10.8715,3.7137	benign	237/293	150324976	483,12523	2203	4300	6503	SO:0001583	missense	474344	exon3			GTATATTGGTAAG	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.710A>G	7.37:g.150324976T>C	ENSP00000330374:p.Gln237Arg	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	290	128	0.441379	NM_001244072	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	47	0.02152014652014652	44	0.08943089430894309	3	0.008287292817679558	0	0.0	0	0.0	T	2.860	-0.236349	0.05944	0.108715	4.65E-4	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.05199	3.48	4.05	-0.00736	0.14009	AIG1 (1);	0.847263	0.10486	N	0.668996	T	0.00073	0.0002	N	0.04994	-0.135	0.09310	N	0.999999	B;B	0.18013	0.002;0.025	B;B	0.18263	0.021;0.018	T	0.47923	-0.9079	10	0.11794	T	0.64	.	3.0119	0.06047	0.3789:0.1102:0.0:0.5109	rs11977216;rs52790742;rs56467483;rs58007032;rs11977216	237;157	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	R	237;298	ENSP00000330374:Q237R	ENSP00000330374:Q237R	Q	-	2	0	GIMAP6	149955909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.176000	0.09811	-0.160000	0.11002	-0.336000	0.08194	CAA	T|0.964;C|0.036	0.036	strong		0.512	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		C	150324976	T	C	150324976	3	2	22	1	0	0	0	0	1	0	0	0	6383	1812	63	2	172	2	GIMAP6	7	150324976	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	107728	150324976	8813687	4587	9695										
GIMAP6	474344	hgsc.bcm.edu	37	chr7	150325177	150325177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagtcttccagggagccgCcagccaggtcttccttccgg	11	15	2	0	rs11974345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150325177C>T	ENST00000328902.5	-	3	725	c.509G>A	c.(508-510)gGc>gAc	p.G170D	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	170	AIG1-type G.		G -> D (in dbSNP:rs11974345).			cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGAGCCGCCAGCCAGGTC	0.612													C|||	163	0.0325479	0.1203	0.0058	5008	,	,		16861	0.0		0.0	False		,,,				2504	0.0				p.G240D		Atlas-SNP	.											GIMAP6,NS,carcinoma,+1,1	GIMAP6	60	1	0			c.G719A						PASS	.	C	ASP/GLY	480,3926	224.6+/-240.7	28,424,1751	110	112	112		509	-1.6	0	7	dbSNP_120	112	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GIMAP6	NM_024711.5	94	28,428,6047	TT,TC,CC		0.0465,10.8942,3.7214	benign	170/293	150325177	484,12522	2203	4300	6503	SO:0001583	missense	474344	exon3			GAGCCGCCAGCCA	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.509G>A	7.37:g.150325177C>T	ENSP00000330374:p.Gly170Asp	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	52	23	0.442308	NM_001244072	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	47	0.02152014652014652	44	0.08943089430894309	3	0.008287292817679558	0	0.0	0	0.0	C	10.17	1.277158	0.23307	0.108942	4.65E-4	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.32272	1.46	4.29	-1.56	0.08532	AIG1 (1);	0.323921	0.26719	N	0.022855	T	0.00241	0.0007	N	0.16708	0.43	0.09310	N	1	B;B	0.18863	0.003;0.031	B;B	0.17433	0.018;0.011	T	0.20240	-1.0281	10	0.12766	T	0.61	.	3.9744	0.09468	0.0:0.2878:0.3552:0.357	rs11974345;rs52826484;rs60915768;rs11974345	170;90	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	D	170;231	ENSP00000330374:G170D	ENSP00000330374:G170D	G	-	2	0	GIMAP6	149956110	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.081000	0.03403	-0.159000	0.11021	-0.304000	0.09214	GGC	C|0.960;T|0.040	0.040	strong		0.612	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		T	150325177	C	T	150325177	3	4	22	1	0	0	0	0	1	0	0	0	6383	739	26	2	373	2	GIMAP6	7	150325177	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201	150325177	8813486	4588	9696										
GIMAP2	26157	hgsc.bcm.edu	37	chr7	150390255	150390255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgcatactgcacagcaTgtgcaatttgttttgttgct	9	8	0	0	rs115945256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150390255T>C	ENST00000223293.5	+	3	975	c.881T>C	c.(880-882)aTg>aCg	p.M294T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	294						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCACAGCATGTGCAATTTG	0.323													T|||	24	0.00479233	0.0098	0.0014	5008	,	,		22226	0.004		0.0	False		,,,				2504	0.0061				p.M294T		Atlas-SNP	.											.	GIMAP2	39	.	0			c.T881C						PASS	.	T	THR/MET	58,4348	57.4+/-93.9	1,56,2146	117	108	111		881	2.1	0	7	dbSNP_132	111	0,8600		0,0,4300	yes	missense	GIMAP2	NM_015660.2	81	1,56,6446	CC,CT,TT		0.0,1.3164,0.4459	possibly-damaging	294/338	150390255	58,12948	2203	4300	6503	SO:0001583	missense	26157	exon3			ACAGCATGTGCAA	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.881T>C	7.37:g.150390255T>C	ENSP00000223293:p.Met294Thr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	126	55	0.436508	NM_015660	Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	CCDS5905.1	7	0.003205128205128205	4	0.008130081300813009	0	0.0	3	0.005244755244755245	0	0.0	T	3.694	-0.062952	0.07273	0.013164	0.0	ENSG00000106560	ENST00000223293	T	0.05382	3.45	3.32	2.14	0.27477	.	1.629670	0.03647	N	0.240382	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37663	-0.9696	10	0.87932	D	0	.	5.2908	0.15725	0.0:0.1378:0.0:0.8622	.	294	Q9UG22	GIMA2_HUMAN	T	294	ENSP00000223293:M294T	ENSP00000223293:M294T	M	+	2	0	GIMAP2	150021188	0.004000	0.15560	0.005000	0.12908	0.008000	0.06430	0.560000	0.23500	0.491000	0.27793	0.533000	0.62120	ATG	T|0.995;C|0.005	0.005	strong		0.323	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		C	150390255	T	C	150390255	3	2	22	1	0	0	0	0	1	0	0	0	6380	1464	51	2	887	2	GIMAP2	7	150390255	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65078	150390255	8748408	4589	9697										
GIMAP5	55340	hgsc.bcm.edu	37	chr7	150439500	150439500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatctttgagtcacaggcCgatacccaagagctgtacaa	8	12	2	2	rs759011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150439500C>T	ENST00000358647.3	+	3	640	c.273C>T	c.(271-273)gcC>gcT	p.A91A	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	91	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCACAGGCCGATACCCAAG	0.597													T|||	1953	0.389976	0.5696	0.2651	5008	,	,		18052	0.3006		0.3082	False		,,,				2504	0.4121				p.A295A		Atlas-SNP	.											GIMAP5,NS,carcinoma,0,1	.	.	1	0			c.C885T						PASS	.	T	,	2405,2001	560.3+/-380.4	672,1061,470	111	99	103		885,273	1.4	0	7	dbSNP_86	103	2642,5958	686.6+/-404.1	390,1862,2048	no	coding-synonymous,coding-synonymous	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	,	1062,2923,2518	TT,TC,CC		30.7209,45.4153,38.8052	,	295/512,91/308	150439500	5047,7959	2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			ACAGGCCGATACC	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.273C>T	7.37:g.150439500C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	CCDS5907.1																																																																																			T|0.385;G|0.004	0.385	strong		0.597	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		T	150439500	C	T	150439500	2	4	22	1	0	0	0	0	0	0	0	1	6382	639	23	1		1	GIMAP5	7	150439500	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49245	150439500	8699163	4590	9698										
GIMAP5	55340	hgsc.bcm.edu	37	chr7	150439554	150439554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctacctgctctctgccccGgggccccacgtcctgcttct	9	19	2	0	rs61751040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150439554G>A	ENST00000358647.3	+	3	694	c.327G>A	c.(325-327)ccG>ccA	p.P109P	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	109	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCTGCCCCGGGGCCCCACG	0.592													G|||	297	0.0593051	0.1785	0.0173	5008	,	,		18120	0.0159		0.0	False		,,,				2504	0.0337				p.P313P		Atlas-SNP	.											GIMAP5,NS,carcinoma,+1,1	.	.	1	0			c.G939A						scavenged	.	G	,	661,3745	280.5+/-275.4	42,577,1584	75	76	76		939,327	-8.3	0	7	dbSNP_129	76	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous,coding-synonymous	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	,	42,589,5872	AA,AG,GG		0.1395,15.0023,5.1745	,	313/512,109/308	150439554	673,12333	2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			TGCCCCGGGGCCC	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.327G>A	7.37:g.150439554G>A		Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	109	52	0.477064	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	CCDS5907.1																																																																																			G|0.953;A|0.047	0.047	strong		0.592	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		A	150439554	G	A	150439554	2	1	22	1	0	0	0	0	0	0	0	1	6382	1103	39	1		1	GIMAP5	7	150439554	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54	150439554	8699109	4591	9699										
TMEM176B	28959	hgsc.bcm.edu	37	chr7	150490376	150490376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagctgtagcaaagcctgCcagggtgagcaggctggata	14	9	0	1	rs2072443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150490376C>T	ENST00000447204.2	-	5	772	c.400G>A	c.(400-402)Gca>Aca	p.A134T	TMEM176B_ENST00000429904.2_Missense_Mutation_p.A134T|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A134T|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A97T|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A134T|TMEM176B_ENST00000326442.5_Missense_Mutation_p.A134T	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	134			A -> T (in dbSNP:rs2072443). {ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAAGCCTGCCAGGGTGAGC	0.512													C|||	2041	0.407548	0.2935	0.3357	5008	,	,		20986	0.5278		0.4155	False		,,,				2504	0.4806				p.A134T		Atlas-SNP	.											.	TMEM176B	36	.	0			c.G400A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1374,3032	454.5+/-350.7	215,944,1044	56	51	53		400,400,289,400	2.3	1	7	dbSNP_96	53	3590,5010	518.5+/-379.3	757,2076,1467	yes	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	58,58,58,58	972,3020,2511	TT,TC,CC		41.7442,31.1847,38.167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	134/271,134/271,97/234,134/271	150490376	4964,8042	2203	4300	6503	SO:0001583	missense	28959	exon5			AGCCTGCCAGGGT	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.400G>A	7.37:g.150490376C>T	ENSP00000410269:p.Ala134Thr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	63	31	0.492063	NM_014020	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	879	0.4024725274725275	134	0.27235772357723576	122	0.3370165745856354	316	0.5524475524475524	307	0.4050131926121372	C	12.50	1.955452	0.34471	0.311847	0.417442	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02606	4.23;4.23;4.23;4.23;4.23;4.23	4.32	2.33	0.28932	.	1.198300	0.06321	N	0.704539	T	0.00012	0.0000	M	0.71296	2.17	0.33944	P	0.356445	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.979	T	0.48570	-0.9024	9	0.59425	D	0.04	-12.8358	4.8486	0.13526	0.0:0.6576:0.223:0.1194	rs2072443;rs3177188;rs11546675;rs17849842;rs17851205;rs58621392;rs2072443	97;134	E9PAV4;Q3YBM2	.;T176B_HUMAN	T	134;134;134;134;134;97;134	ENSP00000419258:A134T;ENSP00000318409:A134T;ENSP00000410269:A134T;ENSP00000413531:A134T;ENSP00000397810:A134T;ENSP00000404831:A97T	ENSP00000318409:A134T	A	-	1	0	TMEM176B	150121309	0.954000	0.32549	0.994000	0.49952	0.019000	0.09904	0.396000	0.20867	2.139000	0.66308	0.448000	0.29417	GCA	C|0.608;T|0.392	0.392	strong		0.512	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		T	150490376	C	T	150490376	3	4	22	1	0	0	0	0	1	0	0	0	16090	739	26	2	424	2	TMEM176B	7	150490376	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50822	150490376	8648287	4592	9700										
TMEM176A	55365	hgsc.bcm.edu	37	chr7	150498773	150498773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgctgcggccccgggccacCcaggccaggggcagcagccg	17	18	0	0	rs10239586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150498773C>T	ENST00000484928.1	+	2	716	c.135C>T	c.(133-135)acC>acT	p.T45T	TMEM176B_ENST00000434545.1_5'Flank|TMEM176A_ENST00000004103.3_Silent_p.T45T|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	45					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGGGCCACCCAGGCCAGGG	0.711													C|||	33	0.00658946	0.025	0.0	5008	,	,		12886	0.0		0.0	False		,,,				2504	0.0				p.T45T		Atlas-SNP	.											.	TMEM176A	35	.	0			c.C135T						PASS	.	C		60,4254		0,60,2097	8	9	8		135	3	0	7	dbSNP_119	8	0,8462		0,0,4231	no	coding-synonymous	TMEM176A	NM_018487.2		0,60,6328	TT,TC,CC		0.0,1.3908,0.4696		45/236	150498773	60,12716	2157	4231	6388	SO:0001819	synonymous_variant	55365	exon2			GGCCACCCAGGCC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.135C>T	7.37:g.150498773C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	30	17	0.566667	NM_018487	D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	CCDS5909.1																																																																																			C|0.993;T|0.007	0.007	strong		0.711	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		T	150498773	C	T	150498773	2	4	22	1	0	0	0	0	0	0	0	1	16089	610	22	2		2	TMEM176A	7	150498773	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8397	150498773	8639890	4593	9701										
TMEM176A	55365	hgsc.bcm.edu	37	chr7	150500832	150500832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctgccgcatctccagctCgagtgactggaacactccag	10	15	1	1	rs76937000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150500832C>T	ENST00000484928.1	+	5	1048	c.467C>T	c.(466-468)tCg>tTg	p.S156L	TMEM176A_ENST00000004103.3_Missense_Mutation_p.S156L|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.S97L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	156					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCTCCAGCTCGAGTGACTGG	0.517													C|||	100	0.0199681	0.0741	0.0029	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0				p.S156L		Atlas-SNP	.											.	TMEM176A	35	.	0			c.C467T						PASS	.	C	LEU/SER	286,4120	159.6+/-192.1	11,264,1928	64	66	65		467	1.5	0	7	dbSNP_131	65	3,8597	2.2+/-6.3	0,3,4297	yes	missense	TMEM176A	NM_018487.2	145	11,267,6225	TT,TC,CC		0.0349,6.4911,2.2221	possibly-damaging	156/236	150500832	289,12717	2203	4300	6503	SO:0001583	missense	55365	exon5			CCAGCTCGAGTGA	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.467C>T	7.37:g.150500832C>T	ENSP00000417626:p.Ser156Leu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_018487	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	C	9.342	1.063261	0.20067	0.064911	3.49E-4	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.12774	3.16;3.16;2.65;2.85;4.31	2.47	1.51	0.23008	.	5.604390	0.00166	N	0.000010	T	0.00936	0.0031	M	0.64997	1.995	0.09310	N	1	P	0.44627	0.839	B	0.29663	0.105	T	0.34403	-0.9830	10	0.62326	D	0.03	-1.4451	6.1594	0.20356	0.301:0.699:0.0:0.0	.	156	Q96HP8	T176A_HUMAN	L	156;156;97;108;97	ENSP00000417626:S156L;ENSP00000004103:S156L;ENSP00000420818:S97L;ENSP00000417834:S108L;ENSP00000420081:S97L	ENSP00000004103:S156L	S	+	2	0	TMEM176A	150131765	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.768000	0.04715	0.569000	0.29329	0.555000	0.69702	TCG	C|0.977;T|0.023	0.023	strong		0.517	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		T	150500832	C	T	150500832	3	4	22	1	0	0	0	0	1	0	0	0	16089	893	31	1	481	1	TMEM176A	7	150500832	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2059	150500832	8637831	4594	9702										
ABP1	26	hgsc.bcm.edu	37	chr7	150553605	150553605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccatcctgatgctgcagaCggccatggcggagccctccc	12	16	0	2	rs10156191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150553605C>T	ENST00000493429.1	+	4	631	c.47C>T	c.(46-48)aCg>aTg	p.T16M	AOC1_ENST00000360937.4_Missense_Mutation_p.T16M|AOC1_ENST00000416793.2_Missense_Mutation_p.T16M|AOC1_ENST00000467291.1_Missense_Mutation_p.T16M			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	16			T -> M (in dbSNP:rs10156191). {ECO:0000269|Ref.4}.		amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ATGCTGCAGACGGCCATGGCG	0.602													T|||	1567	0.312899	0.5613	0.2464	5008	,	,		18928	0.122		0.2654	False		,,,				2504	0.2699				p.T16M		Atlas-SNP	.											.	ABP1	92	.	0			c.C47T						PASS	.	T	MET/THR	1966,1902		502,962,470	31	33	32		47	-0.6	0	7	dbSNP_119	32	2203,6057		270,1663,2197	yes	missense	ABP1	NM_001091.2	81	772,2625,2667	TT,TC,CC		26.6707,49.1727,34.375	benign	16/752	150553605	4169,7959	1934	4130	6064	SO:0001583	missense	26	exon2			TGCAGACGGCCAT	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.47C>T	7.37:g.150553605C>T	ENSP00000418614:p.Thr16Met	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	85	34	0.4	NM_001091	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	627	0.28708791208791207	274	0.556910569105691	91	0.2513812154696133	67	0.11713286713286714	195	0.25725593667546176	T	9.043	0.990180	0.18966	0.508273	0.266707	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.11821	4.4;4.4;2.74;4.4;4.4;3.39	4.84	-0.636	0.11508	Copper amine oxidase, N2/N3-terminal (1);	1.880150	0.03074	N	0.157613	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.47114	-0.9142	9	0.32370	T	0.25	1.8438	10.1427	0.42744	0.0:0.501:0.0:0.499	rs10156191;rs10278856;rs10156191	16;16	C9J690;P19801	.;ABP1_HUMAN	M	16	ENSP00000418614:T16M;ENSP00000418328:T16M;ENSP00000418557:T16M;ENSP00000354193:T16M;ENSP00000411613:T16M;ENSP00000417392:T16M	ENSP00000354193:T16M	T	+	2	0	ABP1	150184538	0.007000	0.16637	0.000000	0.03702	0.019000	0.09904	0.182000	0.16900	-0.572000	0.06006	-1.062000	0.02293	ACG	C|0.708;T|0.292	0.292	strong		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150553605	C	T	150553605	3	4	22	1	0	0	0	0	1	0	0	0	98	536	19	1	49	1	ABP1	7	150553605	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52773	150553605	8585058	4595	9703										
ABP1	26	hgsc.bcm.edu	37	chr7	150554553	150554553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccggctgcgctcctcctCcgggctgcaggtcctgaacg	12	17	0	1	rs1049742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150554553C>T	ENST00000493429.1	+	4	1579	c.995C>T	c.(994-996)tCc>tTc	p.S332F	AOC1_ENST00000467291.1_Missense_Mutation_p.S332F|AOC1_ENST00000360937.4_Missense_Mutation_p.S332F|AOC1_ENST00000416793.2_Missense_Mutation_p.S332F			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	332			S -> F (in dbSNP:rs1049742). {ECO:0000269|PubMed:8595053, ECO:0000269|Ref.4}.		amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CGCTCCTCCTCCGGGCTGCAG	0.667													C|||	266	0.053115	0.0877	0.0605	5008	,	,		14622	0.002		0.0785	False		,,,				2504	0.0276				p.S332F		Atlas-SNP	.											.	ABP1	92	.	0			c.C995T						PASS	.	C	PHE/SER	379,4021		22,335,1843	29	31	30		995	5	0.1	7	dbSNP_86	30	634,7962		17,600,3681	yes	missense	ABP1	NM_001091.2	155	39,935,5524	TT,TC,CC		7.3755,8.6136,7.7947	probably-damaging	332/752	150554553	1013,11983	2200	4298	6498	SO:0001583	missense	26	exon2			CCTCCTCCGGGCT	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.995C>T	7.37:g.150554553C>T	ENSP00000418614:p.Ser332Phe	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	104	55	0.528846	NM_001091	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	126	0.057692307692307696	43	0.08739837398373984	26	0.0718232044198895	0	0.0	57	0.07519788918205805	C	17.14	3.312468	0.60414	0.086136	0.073755	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	4.96	4.96	0.65561	Copper amine oxidase, C-terminal (3);	0.350050	0.28630	N	0.014677	T	0.00906	0.0030	M	0.87547	2.89	0.18873	N	0.999987	P;D	0.62365	0.914;0.991	P;D	0.71414	0.646;0.973	T	0.00022	-1.2336	10	0.72032	D	0.01	-17.8832	16.083	0.81017	0.0:1.0:0.0:0.0	rs1049742;rs3189948;rs1049742	332;332	C9J690;P19801	.;ABP1_HUMAN	F	332;332;332;332;208;332	ENSP00000418614:S332F;ENSP00000418328:S332F;ENSP00000354193:S332F;ENSP00000411613:S332F;ENSP00000417392:S332F	ENSP00000354193:S332F	S	+	2	0	ABP1	150185486	0.006000	0.16342	0.094000	0.20943	0.974000	0.67602	2.255000	0.43222	2.735000	0.93741	0.561000	0.74099	TCC	C|0.946;T|0.054	0.054	strong		0.667	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150554553	C	T	150554553	3	4	22	1	0	0	0	0	1	0	0	0	98	855	30	2	997	2	ABP1	7	150554553	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	948	150554553	8584110	4596	9704										
NOS3	4846	hgsc.bcm.edu	37	chr7	150710392	150710392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccatctctaccgcgacgaGgtgcagaacgcccagcagcg	12	15	1	1	rs3730011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150710392G>A	ENST00000297494.3	+	25	3537	c.3180G>A	c.(3178-3180)gaG>gaA	p.E1060E	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.E854E|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGCGACGAGGTGCAGAACG	0.642											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	18	0.00359425	0.0136	0.0	5008	,	,		13957	0.0		0.0	False		,,,				2504	0.0				p.E1060E		Atlas-SNP	.											NOS3,NS,carcinoma,+2,1	NOS3	131	1	0			c.G3180A						PASS	.	G	,	49,4357	50.2+/-85.5	1,47,2155	77	72	74		3180,	4.2	1	7	dbSNP_107	74	0,8600		0,0,4300	no	coding-synonymous,utr-3	NOS3,ATG9B	NM_000603.4,NM_173681.5	,	1,47,6455	AA,AG,GG		0.0,1.1121,0.3767	,	1060/1204,	150710392	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	4846	exon25			CGACGAGGTGCAG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3180G>A	7.37:g.150710392G>A		Somatic	68	0	0	1734	WXS	Illumina HiSeq	Phase_I	75	41	0.546667	NM_000603	Q495E5	Silent	SNP	ENST00000297494.3	37	CCDS5912.1																																																																																			G|0.995;A|0.005	0.005	strong		0.642	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		A	150710392	G	A	150710392	2	1	22	1	0	0	0	0	0	0	0	1	10544	991	35	2		2	NOS3	7	150710392	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155839	150710392	8428271	4597	9705										
ABCB8	11194	hgsc.bcm.edu	37	chr7	150730712	150730712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtactctgatggctaccgcaGctcctccctcctccgggccg	10	18	1	1	rs6975981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150730712G>A	ENST00000297504.6	+	3	233	c.167G>A	c.(166-168)aGc>aAc	p.S56N	ABCB8_ENST00000477719.1_Missense_Mutation_p.S39N|ABCB8_ENST00000477092.1_Missense_Mutation_p.S39N|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Missense_Mutation_p.S39N|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000358849.4_Missense_Mutation_p.S39N|ABCB8_ENST00000356058.4_Missense_Mutation_p.S76N			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	56					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GGCTACCGCAGCTCCTCCCTC	0.677													G|||	161	0.0321486	0.1157	0.0115	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.0				p.S39N		Atlas-SNP	.											.	ABCB8	65	.	0			c.G116A						PASS	.	G	ASN/SER	340,4066	168.7+/-199.5	13,314,1876	41	45	44		116	2.2	0	7	dbSNP_116	44	10,8590	7.7+/-29.5	0,10,4290	yes	missense	ABCB8	NM_007188.3	46	13,324,6166	AA,AG,GG		0.1163,7.7167,2.6911	benign	39/719	150730712	350,12656	2203	4300	6503	SO:0001583	missense	11194	exon2			ACCGCAGCTCCTC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.167G>A	7.37:g.150730712G>A	ENSP00000297504:p.Ser56Asn	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	107	49	0.457944	NM_007188	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		65	0.02976190476190476	61	0.12398373983739837	4	0.011049723756906077	0	0.0	0	0.0	G	10.99	1.505996	0.26949	0.077167	0.001163	ENSG00000197150	ENST00000461373;ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D	0.91011	-2.65;-2.66;-2.77;-2.01;-2.07;-2.1	4.07	2.23	0.28157	.	0.502250	0.22050	N	0.065324	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	B;B;B;B;P	0.40000	0.079;0.361;0.277;0.361;0.698	B;B;B;B;B	0.38562	0.035;0.051;0.109;0.081;0.276	T	0.29212	-1.0019	10	0.38643	T	0.18	0.0796	5.7097	0.17929	0.1091:0.1985:0.6924:0.0	rs6975981;rs60484309	39;56;39;39;76	A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;ABCB8_HUMAN;.;.;.	N	76;39;39;56;39;76;39;39	ENSP00000351717:S39N;ENSP00000297504:S56N;ENSP00000418271:S39N;ENSP00000348353:S76N;ENSP00000419891:S39N;ENSP00000419558:S39N	ENSP00000297504:S56N	S	+	2	0	ABCB8	150361645	0.849000	0.29639	0.002000	0.10522	0.015000	0.08874	1.842000	0.39250	0.474000	0.27392	0.561000	0.74099	AGC	G|0.973;A|0.027	0.027	strong		0.677	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		A	150730712	G	A	150730712	3	1	22	1	0	0	0	0	1	0	0	0	47	971	34	2	122	2	ABCB8	7	150730712	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20320	150730712	8407951	4598	9706										
SLC4A2	6522	hgsc.bcm.edu	37	chr7	150763616	150763621	+	In_Frame_Del	DEL	GGAGGC	GGAGGC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcctagaacccaggtggaGgaggcggaggcggaggcggt					rs150330052|rs199537782|rs374531279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGAGGC	GGAGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150763616_150763621delGGAGGC	ENST00000485713.1	+	6	1631_1636	c.591_596delGGAGGC	c.(589-597)gaggaggcg>gag	p.EA202del	SLC4A2_ENST00000392826.2_In_Frame_Del_p.EA193del|SLC4A2_ENST00000413384.2_In_Frame_Del_p.EA202del|SLC4A2_ENST00000461735.1_In_Frame_Del_p.EA188del|SLC4A2_ENST00000310317.5_In_Frame_Del_p.EA120del	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	202	Pro-rich.		E -> V (in dbSNP:rs2229551). {ECO:0000269|Ref.2}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGTGGAGGAGGCGGAGGCGGAG	0.733														191	0.038139	0.1316	0.0173	5008	,	,		15101	0.001		0.003	False		,,,				2504	0.001				p.197_199del		Pindel,Atlas-Indel	.											.	SLC4A2	98	.	0			c.590_595del						PASS	.		,,,	390,3074		94,202,1436					,,,	4.7	1		dbSNP_130	8	34,6758		8,18,3370	no	coding,coding,coding,coding	SLC4A2	NM_003040.3,NM_001199694.1,NM_001199693.1,NM_001199692.1	,,,	102,220,4806	A1A1,A1R,RR		0.5006,11.2587,4.1342	,,,	,,,		424,9832				SO:0001651	inframe_deletion	6522	exon6			.		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.591_596delGGAGGC	7.37:g.150763622_150763627delGGAGGC	ENSP00000419412:p.Glu202_Ala203del	Somatic	56	.	.		WXS	Illumina HiSeq	Phase_I	49	12	0.245	NM_001199692	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	In_Frame_Del	DEL	ENST00000485713.1	37	CCDS5917.1																																																																																			GGAGGC|0.962;-|0.038	0.038	strong		0.733	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		-	150763621	GGAGGC	-	150763616	7	5	22	1	0	1	0	1	0	0	0	0	14654	991	35	0	609	0	SLC4A2	7	150763616	In_Frame_Del	DEL	GGAGGC	TCGA-G8-6324-01A-11D-2210-10	32904	150763616	8375047	4599	9707										
SLC4A2	6522	hgsc.bcm.edu	37	chr7	150768849	150768849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagggcgtggtcttctgCctgctgggtgcccagcccct	13	16	2	0	rs11542749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150768849C>T	ENST00000485713.1	+	15	3305	c.2265C>T	c.(2263-2265)tgC>tgT	p.C755C	SLC4A2_ENST00000310317.5_Silent_p.C673C|SLC4A2_ENST00000413384.2_Silent_p.C755C|SLC4A2_ENST00000392826.2_Silent_p.C746C|SLC4A2_ENST00000461735.1_Silent_p.C741C|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	755	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTCTTCTGCCTGCTGGGTG	0.617													C|||	332	0.0662939	0.2027	0.036	5008	,	,		15252	0.0		0.0298	False		,,,				2504	0.0092				p.C755C		Atlas-SNP	.											.	SLC4A2	98	.	0			c.C2265T						PASS	.	C	,,,	593,3813	259.8+/-263.3	40,513,1650	83	90	88		2265,2238,2223,2265	1.9	1	7	dbSNP_120	88	256,8344	100.1+/-161.6	4,248,4048	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	,,,	44,761,5698	TT,TC,CC		2.9767,13.4589,6.5278	,,,	755/1242,746/1233,741/1228,755/1242	150768849	849,12157	2203	4300	6503	SO:0001819	synonymous_variant	6522	exon15			CTTCTGCCTGCTG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2265C>T	7.37:g.150768849C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	160	81	0.50625	NM_003040	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																			C|0.927;T|0.073	0.073	strong		0.617	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		T	150768849	C	T	150768849	2	4	22	1	0	0	0	0	0	0	0	1	14654	747	26	2		2	SLC4A2	7	150768849	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5233	150768849	8369814	4600	9708										
GBX1	2636	hgsc.bcm.edu	37	chr7	150846188	150846188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggtctcctgctgatgCctccagcttctcctcatctg	9	15	4	1	rs11975799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150846188C>T	ENST00000297537.4	-	2	579	c.580G>A	c.(580-582)Gca>Aca	p.A194T	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	194			A -> T (in dbSNP:rs11975799).		adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCTGATGCCTCCAGCTTC	0.582													C|||	117	0.0233626	0.0764	0.0072	5008	,	,		16501	0.006		0.0	False		,,,				2504	0.0051				p.A194T		Atlas-SNP	.											.	GBX1	21	.	0			c.G580A						PASS	.	C	THR/ALA	219,3991		9,201,1895	204	220	215		580	0.8	0.8	7	dbSNP_120	215	4,8462		0,4,4229	yes	missense	GBX1	NM_001098834.1	58	9,205,6124	TT,TC,CC		0.0472,5.2019,1.7592	benign	194/364	150846188	223,12453	2105	4233	6338	SO:0001583	missense	2636	exon2			CTGATGCCTCCAG	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.580G>A	7.37:g.150846188C>T	ENSP00000297537:p.Ala194Thr	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	24	15	0.625	NM_001098834		Missense_Mutation	SNP	ENST00000297537.4	37	CCDS43682.1	41	0.018772893772893772	33	0.06707317073170732	4	0.011049723756906077	4	0.006993006993006993	0	0.0	C	13.43	2.233908	0.39498	0.052019	4.72E-4	ENSG00000164900	ENST00000297537	D	0.91894	-2.93	4.95	0.769	0.18492	.	0.952841	0.08341	U	0.960876	T	0.27489	0.0675	N	0.08118	0	0.42774	D	0.993847	B	0.10296	0.003	B	0.06405	0.002	T	0.57165	-0.7858	10	0.19147	T	0.46	-4.7045	3.1719	0.06555	0.1248:0.4649:0.2571:0.1532	rs11975799;rs11975799	194	Q14549	GBX1_HUMAN	T	194	ENSP00000297537:A194T	ENSP00000297537:A194T	A	-	1	0	GBX1	150477121	0.997000	0.39634	0.847000	0.33407	0.987000	0.75469	1.560000	0.36331	0.141000	0.18875	-0.373000	0.07131	GCA	C|0.979;T|0.021	0.021	strong		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			T	150846188	C	T	150846188	3	4	22	1	0	0	0	0	1	0	0	0	6280	739	26	2	514	2	GBX1	7	150846188	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77339	150846188	8292475	4601	9709										
CHPF2	54480	hgsc.bcm.edu	37	chr7	150935367	150935367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatcacccccagggccccCgggggctggccctgaccccc	13	20	1	2	rs76509585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:150935367C>T	ENST00000035307.2	+	4	3432	c.1919C>T	c.(1918-1920)cCg>cTg	p.P640L	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P632L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	640	Gly/Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCAGGGCCCCCGGGGGCTGGC	0.657													C|||	77	0.0153754	0.0545	0.0072	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.0				p.P640L		Atlas-SNP	.											.	CHPF2	52	.	0			c.C1919T						PASS	.	C	LEU/PRO	169,4233		1,167,2033	19	22	21		1919	2.9	0	7	dbSNP_131	21	1,8597		0,1,4298	yes	missense	CHPF2	NM_019015.1	98	1,168,6331	TT,TC,CC		0.0116,3.8392,1.3077	probably-damaging	640/773	150935367	170,12830	2201	4299	6500	SO:0001583	missense	54480	exon4			GGCCCCCGGGGGC	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1919C>T	7.37:g.150935367C>T	ENSP00000035307:p.Pro640Leu	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_019015	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	C	10.20	1.283741	0.23392	0.038392	1.16E-4	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.15372	2.43;2.43	4.81	2.92	0.33932	.	0.129772	0.36002	N	0.002859	T	0.01627	0.0052	N	0.08118	0	0.21147	N	0.999775	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32214	-0.9915	10	0.30078	T	0.28	-5.8196	9.1096	0.36718	0.0:0.8523:0.0:0.1477	.	640;632	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	632;640	ENSP00000418914:P632L;ENSP00000035307:P640L	ENSP00000035307:P640L	P	+	2	0	CHPF2	150566300	0.009000	0.17119	0.015000	0.15790	0.410000	0.31052	0.945000	0.29056	0.573000	0.29400	0.655000	0.94253	CCG	C|0.988;T|0.012	0.012	strong		0.657	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		T	150935367	C	T	150935367	3	4	22	1	0	0	0	0	1	0	0	0	3369	652	23	1	1933	1	CHPF2	7	150935367	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89179	150935367	8203296	4602	9710										
PRKAG2	51422	hgsc.bcm.edu	37	chr7	151257665	151257665	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagggaaataatacccacAatactatctgcttcatttac	5	10	2	0	rs28763998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151257665A>G	ENST00000287878.4	-	15	2127	c.1623T>C	c.(1621-1623)atT>atC	p.I541I	PRKAG2_ENST00000392801.2_Silent_p.I497I|PRKAG2_ENST00000418337.2_Silent_p.I300I|PRKAG2_ENST00000492843.1_Silent_p.I417I|PRKAG2_ENST00000433631.2_Silent_p.I416I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	541	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TAATACCCACAATACTATCTG	0.448													A|||	220	0.0439297	0.1596	0.013	5008	,	,		18994	0.0		0.0	False		,,,				2504	0.0				p.I541I		Atlas-SNP	.											.	PRKAG2	86	.	0			c.T1623C						PASS	.	A	,,	526,3880	242.1+/-252.3	28,470,1705	126	122	123		1491,1623,900	-5.7	0.2	7	dbSNP_125	123	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous,coding-synonymous	PRKAG2	NM_001040633.1,NM_016203.3,NM_024429.1	,,	28,472,6003	GG,GA,AA		0.0233,11.9383,4.0597	,,	497/526,541/570,300/329	151257665	528,12478	2203	4300	6503	SO:0001819	synonymous_variant	51422	exon15			ACCCACAATACTA	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1623T>C	7.37:g.151257665A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_016203	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	CCDS5928.1																																																																																			A|0.955;G|0.045	0.045	strong		0.448	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		G	151257665	A	G	151257665	2	3	22	1	0	0	0	0	0	0	0	1	12501	126	5	2		2	PRKAG2	7	151257665	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	322298	151257665	7880998	4603	9711										
MLL3	58508	hgsc.bcm.edu	37	chr7	151859495	151859495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcaggactctgtctcagCcttttccagttttatctctt	8	11	3	0	rs115580901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151859495C>G	ENST00000262189.6	-	43	11385	c.11167G>C	c.(11167-11169)Gct>Cct	p.A3723P	KMT2C_ENST00000355193.2_Missense_Mutation_p.A3723P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3723					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGTCTCAGCCTTTTCCAGT	0.478													C|||	9	0.00179712	0.0061	0.0014	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.0				p.A3723P		Atlas-SNP	.											.	MLL3	1564	.	0			c.G11167C						PASS	.	C	PRO/ALA	19,4387	26.2+/-53.5	0,19,2184	177	181	180		11167	-2	0	7	dbSNP_133	180	0,8600		0,0,4300	yes	missense	MLL3	NM_170606.2	27	0,19,6484	GG,GC,CC		0.0,0.4312,0.1461	benign	3723/4912	151859495	19,12987	2203	4300	6503	SO:0001583	missense	58508	exon43			TCTCAGCCTTTTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11167G>C	7.37:g.151859495C>G	ENSP00000262189:p.Ala3723Pro	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	176	93	0.528409	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	5.391|5.391	0.257270|0.257270	0.10239|0.10239	0.004312|0.004312	0.0|0.0	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89415|.	-1.83;-1.81;-2.51|.	5.51|5.51	-2.01|-2.01	0.07410|0.07410	.|.	0.151901|.	0.29660|.	U|.	0.011527|.	T|T	0.18341|0.18341	0.0440|0.0440	L|L	0.29908|0.29908	0.895|0.895	0.29679|0.29679	N|N	0.841841|0.841841	B;B;B|.	0.10296|.	0.002;0.001;0.003|.	B;B;B|.	0.09377|.	0.003;0.003;0.004|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.37606|.	T|.	0.19|.	.|.	2.0729|2.0729	0.03618|0.03618	0.1792:0.4224:0.1773:0.2212|0.1792:0.4224:0.1773:0.2212	.|.	3723;2784;3723|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	P|A	3723;3723;309|1228	ENSP00000262189:A3723P;ENSP00000347325:A3723P;ENSP00000410411:A309P|.	ENSP00000262189:A3723P|.	A|G	-|-	1|2	0|0	MLL3|MLL3	151490428|151490428	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.471000|0.471000	0.32888|0.32888	-0.542000|-0.542000	0.06091|0.06091	-1.225000|-1.225000	0.02578|0.02578	-1.938000|-1.938000	0.00498|0.00498	GCT|GGC	C|0.998;G|0.002	0.002	strong		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151859495	C	G	151859495	3	3	22	1	0	0	0	0	1	0	0	0	9622	739	26	4	3636	4	MLL3	7	151859495	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	601830	151859495	7279168	4604	9712										
MLL3	58508	hgsc.bcm.edu	37	chr7	151873853	151873853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtagttgagtggatgcCtgaatgacatttgcactggg	15	6	0	3	rs6464211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151873853C>T	ENST00000262189.6	-	38	8903	c.8685G>A	c.(8683-8685)caG>caA	p.Q2895Q	KMT2C_ENST00000355193.2_Silent_p.Q2895Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2895					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGTGGATGCCTGAATGACAT	0.398													T|||	1917	0.382788	0.7549	0.2392	5008	,	,		20363	0.3016		0.17	False		,,,				2504	0.2843				p.Q2895Q		Atlas-SNP	.											.	MLL3	1564	.	0			c.G8685A						PASS	.	T		3030,1376	455.9+/-351.1	1049,932,222	94	93	93		8685	-3.6	0	7	dbSNP_116	93	1408,7192	753.3+/-407.4	126,1156,3018	no	coding-synonymous	MLL3	NM_170606.2		1175,2088,3240	TT,TC,CC		16.3721,31.2301,34.1227		2895/4912	151873853	4438,8568	2203	4300	6503	SO:0001819	synonymous_variant	58508	exon38			GGATGCCTGAATG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8685G>A	7.37:g.151873853C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	173	86	0.49711	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	754	0.34523809523809523	358	0.7276422764227642	92	0.2541436464088398	170	0.2972027972027972	134	0.17678100263852242	T	0.007	-1.957464	0.00465	0.687699	0.163721	ENSG00000055609	ENST00000360104	.	.	.	5.12	-3.6	0.04570	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.46798	P	7.970000000000477E-4	.	.	.	.	.	.	T	0.38436	-0.9661	3	.	.	.	.	0.8674	0.01206	0.1496:0.2894:0.2562:0.3048	rs6464211;rs13236845;rs60172642;rs6464211	.	.	.	S	401	.	.	G	-	1	0	MLL3	151504786	0.092000	0.21681	0.000000	0.03702	0.138000	0.21146	0.169000	0.16641	-1.511000	0.01794	-1.256000	0.01477	GGC	C|0.643;T|0.357	0.357	strong		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151873853	C	T	151873853	2	4	22	1	0	0	0	0	0	0	0	1	9622	680	24	2		2	MLL3	7	151873853	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14358	151873853	7264810	4605	9713										
MLL3	58508	hgsc.bcm.edu	37	chr7	151874498	151874498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctctagaccatcagaaggCtgggtggttatctgtaaatt	10	8	3	2	rs10252263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151874498C>T	ENST00000262189.6	-	38	8258	c.8040G>A	c.(8038-8040)caG>caA	p.Q2680Q	KMT2C_ENST00000355193.2_Silent_p.Q2680Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2680					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CATCAGAAGGCTGGGTGGTTA	0.433													T|||	792	0.158147	0.3442	0.1052	5008	,	,		20439	0.1587		0.0119	False		,,,				2504	0.0941				p.Q2680Q		Atlas-SNP	.											.	MLL3	1564	.	0			c.G8040A						PASS	.	T		1367,3039	687.1+/-404.8	219,929,1055	77	76	76		8040	-1.9	0	7	dbSNP_119	76	148,8452	806.1+/-407.2	1,146,4153	no	coding-synonymous	MLL3	NM_170606.2		220,1075,5208	TT,TC,CC		1.7209,31.0259,11.6485		2680/4912	151874498	1515,11491	2203	4300	6503	SO:0001819	synonymous_variant	58508	exon38			AGAAGGCTGGGTG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8040G>A	7.37:g.151874498C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	166	60	0.361446	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	307	0.14056776556776557	171	0.3475609756097561	35	0.09668508287292818	93	0.16258741258741258	8	0.010554089709762533	T	0.007	-1.998027	0.00435	0.310259	0.017209	ENSG00000055609	ENST00000360104	.	.	.	5.63	-1.92	0.07618	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.31308	-0.9948	3	.	.	.	.	13.3278	0.60469	0.0:0.6024:0.0:0.3976	rs10252263;rs58157666;rs10252263	.	.	.	T	186	.	.	A	-	1	0	MLL3	151505431	0.058000	0.20735	0.003000	0.11579	0.113000	0.19764	-0.070000	0.11523	-0.689000	0.05149	-1.859000	0.00561	GCC	C|0.865;T|0.135	0.135	strong		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151874498	C	T	151874498	2	4	22	1	0	0	0	0	0	0	0	1	9622	796	28	2		2	MLL3	7	151874498	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	645	151874498	7264165	4606	9714										
MLL3	58508	hgsc.bcm.edu	37	chr7	151927070	151927070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacaggcaagtaatcttcCttctgctccttggccaaaac	7	12	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151927070C>T	ENST00000262189.6	-	18	3132	c.2914G>A	c.(2914-2916)Gga>Aga	p.G972R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G972R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	972					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTAATCTTCCTTCTGCTCCT	0.353																																					p.G972R		Atlas-SNP	.											MLL3_ENST00000355193,bladder,carcinoma,+1,4	MLL3	1564	4	0			c.G2914A						scavenged	.						63	52	56					7																	151927070		2199	4278	6477	SO:0001583	missense	58508	exon18			ATCTTCCTTCTGC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2914G>A	7.37:g.151927070C>T	ENSP00000262189:p.Gly972Arg	Somatic	1867	4	0.00214247		WXS	Illumina HiSeq	Phase_I	1500	179	0.119333	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.99|18.99	3.739123|3.739123	0.69304|0.69304	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.88664|.	-2.41;-2.41|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.40469|.	U|.	0.001093|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.75252|0.75252	-0.3383|-0.3383	10|5	0.87932|.	D|.	0|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	972;33|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	R|K	972|127	ENSP00000262189:G972R;ENSP00000347325:G972R|.	ENSP00000262189:G972R|.	G|R	-|-	1|2	0|0	MLL3|MLL3	151558003|151558003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.770000|7.770000	0.85390|0.85390	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	GGA|AGG	.	.	none		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151927070	C	T	151927070	3	4	22	1	0	0	0	0	1	0	0	0	9622	690	24	2	11989	2	MLL3	7	151927070	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52572	151927070	7211593	4607	9715										
MLL3	58508	hgsc.bcm.edu	37	chr7	151932990	151932990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctgcacctcgaggtctcCgctttcctggaaatccagac	9	15	1	1	rs76844681		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGAGGTCTCCGCTTTCCTGG	0.502																																					p.R894Q		Atlas-SNP	.											MLL3_ENST00000355193,NS,malignant_melanoma,+1,4	MLL3	1564	4	0			c.G2681A						scavenged	.						33	34	33					7																	151932990		2202	4295	6497	SO:0001583	missense	58508	exon16			GGTCTCCGCTTTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	182	9	0.0494506	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG	C|0.999;T|0.001	0.001	weak		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151932990	C	T	151932990	3	4	22	1	0	0	0	0	1	0	0	0	9622	652	23	1	12230	1	MLL3	7	151932990	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5920	151932990	7205673	4608	9716										
MLL3	58508	hgsc.bcm.edu	37	chr7	151945215	151945215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgctgatgatgaaaatgaTgactctgtctcagatgataa	9	6	3	7	rs594178		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151945215T>C	ENST00000262189.6	-	14	2522	c.2304A>G	c.(2302-2304)tcA>tcG	p.S768S	KMT2C_ENST00000355193.2_Silent_p.S768S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	768					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATGAAAATGATGACTCTGTCT	0.418																																					p.S768S		Atlas-SNP	.											MLL3_ENST00000355193,NS,carcinoma,0,2	MLL3	1564	2	0			c.A2304G						scavenged	.						154	136	142					7																	151945215		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon14			AAATGATGACTCT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2304A>G	7.37:g.151945215T>C		Somatic	440	0	0		WXS	Illumina HiSeq	Phase_I	484	24	0.0495868	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			T|0.750;C|0.250	0.250	strong		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151945215	T	C	151945215	2	2	22	1	0	0	0	0	0	0	0	1	9622	1451	51	2		2	MLL3	7	151945215	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12225	151945215	7193448	4609	9717										
MLL3	58508	hgsc.bcm.edu	37	chr7	151949068	151949068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcacctggctgtaaaCgatccatctcagctcccagg	7	16	2	0	rs3735156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151949068C>G	ENST00000262189.6	-	11	1795	c.1577G>C	c.(1576-1578)cGt>cCt	p.R526P	KMT2C_ENST00000355193.2_Missense_Mutation_p.R526P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	526			R -> P (in dbSNP:rs3735156). {ECO:0000269|PubMed:11891048}.		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGCTGTAAACGATCCATCTC	0.383													G|||	906	0.180911	0.4977	0.1095	5008	,	,		18528	0.0704		0.0109	False		,,,				2504	0.092				p.R526P		Atlas-SNP	.											.	MLL3	1564	.	0			c.G1577C						PASS	.	G	PRO/ARG	1996,2410	616.3+/-392.7	458,1080,665	106	96	100		1577	5.8	0	7	dbSNP_107	100	139,8461	813.0+/-407.0	1,137,4162	yes	missense	MLL3	NM_170606.2	103	459,1217,4827	GG,GC,CC		1.6163,45.3019,16.4155	benign	526/4912	151949068	2135,10871	2203	4300	6503	SO:0001583	missense	58508	exon11			TGTAAACGATCCA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1577G>C	7.37:g.151949068C>G	ENSP00000262189:p.Arg526Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	102	32	0.313726	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	331	0.15155677655677655	241	0.4898373983739837	37	0.10220994475138122	45	0.07867132867132867	8	0.010554089709762533	G	8.646	0.897097	0.17686	0.453019	0.016163	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82893	-1.66;-1.66	5.75	5.75	0.90469	.	0.321390	0.22057	N	0.065238	T	0.00012	0.0000	N	0.00197	-1.87	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	9	0.02654	T	1	.	11.4246	0.50003	0.0:0.2354:0.6285:0.1361	rs3735156;rs10376667;rs61450622;rs3735156	526	Q8NEZ4	MLL3_HUMAN	P	526	ENSP00000262189:R526P;ENSP00000347325:R526P	ENSP00000262189:R526P	R	-	2	0	MLL3	151580001	0.893000	0.30496	0.007000	0.13788	0.948000	0.59901	1.962000	0.40442	1.454000	0.47793	-0.120000	0.15030	CGT	C|0.828;G|0.172	0.172	strong		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151949068	C	G	151949068	3	3	22	1	0	0	0	0	1	0	0	0	9622	536	19	4	13354	4	MLL3	7	151949068	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3853	151949068	7189595	4610	9718										
MLL3	58508	hgsc.bcm.edu	37	chr7	151970811	151970811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttcaggagcttggtcaaTgtgttctggacaaagcagga	12	7	4	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:151970811T>C	ENST00000262189.6	-	7	1209	c.991A>G	c.(991-993)Att>Gtt	p.I331V	KMT2C_ENST00000355193.2_Missense_Mutation_p.I331V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	331					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTTGGTCAATGTGTTCTGGA	0.393																																					p.I331V		Atlas-SNP	.											.	MLL3	1564	.	0			c.A991G						PASS	.																																			SO:0001583	missense	58508	exon7			GGTCAATGTGTTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.991A>G	7.37:g.151970811T>C	ENSP00000262189:p.Ile331Val	Somatic	725	0	0		WXS	Illumina HiSeq	Phase_I	801	39	0.0486891	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458970	0.43634	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	4.78	4.78	0.61160	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	U	0.000493	T	0.72993	0.3530	L	0.34521	1.04	0.80722	D	1	P	0.39094	0.659	B	0.34873	0.191	T	0.71537	-0.4563	10	0.21014	T	0.42	.	14.599	0.68427	0.0:0.0:0.0:1.0	.	331	Q8NEZ4	MLL3_HUMAN	V	331	ENSP00000262189:I331V;ENSP00000347325:I331V	ENSP00000262189:I331V	I	-	1	0	MLL3	151601744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.185000	0.58330	1.924000	0.55735	0.477000	0.44152	ATT	.	.	none		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151970811	T	C	151970811	3	2	22	1	0	0	0	0	1	0	0	0	9622	1464	51	2	13956	2	MLL3	7	151970811	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21743	151970811	7167852	4611	9719										
DPP6	1804	hgsc.bcm.edu	37	chr7	154672646	154672646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgcgcgtggccgtgttTgggaaggtgagtctgcgcca	18	9	1	1	rs3817522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:154672646T>C	ENST00000377770.3	+	21	2268	c.2127T>C	c.(2125-2127)ttT>ttC	p.F709F	DPP6_ENST00000332007.3_Silent_p.F647F|DPP6_ENST00000404039.1_Silent_p.F645F|DPP6_ENST00000427557.1_Silent_p.F602F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	709					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGCCGTGTTTGGGAAGGTGA	0.552													t|||	1327	0.264976	0.4902	0.3963	5008	,	,		16029	0.1002		0.1879	False		,,,				2504	0.1166				p.F709F	NSCLC(125;1384 1783 2490 7422 34254)	Atlas-SNP	.											.	DPP6	383	.	0			c.T2127C						PASS	.	T	,,	1773,2469		377,1019,725	99	109	106		1581,1500,1500	-2.1	1	7	dbSNP_107	106	1514,6950		133,1248,2851	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	510,2267,3576	CC,CT,TT		17.8875,41.7963,25.8697	,,	527/684,500/657,500/657	154672646	3287,9419	2121	4232	6353	SO:0001819	synonymous_variant	1804	exon21			CGTGTTTGGGAAG	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2127T>C	7.37:g.154672646T>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_130797		Silent	SNP	ENST00000377770.3	37																																																																																				T|0.742;C|0.258	0.258	strong		0.552	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		C	154672646	T	C	154672646	2	2	22	1	0	0	0	0	0	0	0	1	4730	1809	63	2		2	DPP6	7	154672646	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2701835	154672646	4466017	4612	9720										
RBM33	155435	hgsc.bcm.edu	37	chr7	155530954	155530954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggcccgtacgaccagccTtgcagcctccaggtccggtg	13	16	0	0	rs2178428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:155530954T>C	ENST00000401878.3	+	11	1792	c.1594T>C	c.(1594-1596)Ttg>Ctg	p.L532L		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	532	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACGACCAGCCTTGCAGCCTCC	0.597													C|||	1590	0.317492	0.5492	0.2695	5008	,	,		17130	0.3125		0.1869	False		,,,				2504	0.1779				p.L532L		Atlas-SNP	.											.	RBM33	157	.	0			c.T1594C						PASS	.	C		2011,2151		485,1041,555	80	90	87		1594	1.8	0.7	7	dbSNP_96	87	1626,6790		177,1272,2759	no	coding-synonymous	RBM33	NM_053043.2		662,2313,3314	CC,CT,TT		19.3203,48.3181,28.9156		532/1171	155530954	3637,8941	2081	4208	6289	SO:0001819	synonymous_variant	155435	exon11			CCAGCCTTGCAGC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1594T>C	7.37:g.155530954T>C		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	197	197	1	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2																																																																																			T|0.707;C|0.293	0.293	strong		0.597	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		C	155530954	T	C	155530954	2	2	22	1	0	0	0	0	0	0	0	1	13130	1606	56	3		3	RBM33	7	155530954	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	858308	155530954	3607709	4613	9721										
RBM33	155435	hgsc.bcm.edu	37	chr7	155531080	155531080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgtttctgcccacacacAcacagcccaacctgcaggta	7	17	1	0	rs3735576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:155531080A>G	ENST00000401878.3	+	11	1918	c.1720A>G	c.(1720-1722)Aca>Gca	p.T574A		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	574	Pro-rich.		T -> A (in dbSNP:rs3735576).				nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GCCCACACACACACAGCCCAA	0.517													G|||	1830	0.365415	0.7239	0.281	5008	,	,		16725	0.3135		0.1869	False		,,,				2504	0.1779				p.T574A		Atlas-SNP	.											.	RBM33	157	.	0			c.A1720G						PASS	.	G	ALA/THR	2440,1538		766,908,315	41	47	45		1720	2.9	0.5	7	dbSNP_107	45	1637,6699		186,1265,2717	yes	missense	RBM33	NM_053043.2	58	952,2173,3032	GG,GA,AA		19.6377,38.6626,33.1087	benign	574/1171	155531080	4077,8237	1989	4168	6157	SO:0001583	missense	155435	exon11			ACACACACACAGC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1720A>G	7.37:g.155531080A>G	ENSP00000384160:p.Thr574Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	788	0.3608058608058608	344	0.6991869918699187	106	0.292817679558011	196	0.34265734265734266	142	0.18733509234828497	G	0.637	-0.814922	0.02776	0.613374	0.196377	ENSG00000184863	ENST00000401878	T	0.41065	1.01	5.04	2.89	0.33648	.	0.473568	0.15017	N	0.285215	T	0.00012	0.0000	N	0.20685	0.6	0.22591	P	0.99895561	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	9	0.02654	T	1	.	7.3237	0.26542	0.5619:0.0:0.4381:0.0	rs3735576;rs10332471;rs10440916;rs60191321;rs3735576	574	Q96EV2	RBM33_HUMAN	A	574	ENSP00000384160:T574A	ENSP00000384160:T574A	T	+	1	0	RBM33	155223841	0.194000	0.23325	0.531000	0.27976	0.611000	0.37282	1.813000	0.38962	0.503000	0.28060	-0.213000	0.12676	ACA	A|0.633;G|0.367	0.367	strong		0.517	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		G	155531080	A	G	155531080	3	3	22	1	0	0	0	0	1	0	0	0	13130	159	6	2	1762	2	RBM33	7	155531080	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126	155531080	3607583	4614	9722										
RBM33	155435	hgsc.bcm.edu	37	chr7	155534653	155534653	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgctgctctgccacgccCtcagcacaagtgaaacctat	8	16	2	1	rs73167165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:155534653C>G	ENST00000401878.3	+	13	2388	c.2190C>G	c.(2188-2190)ccC>ccG	p.P730P		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	730							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTGCCACGCCCTCAGCACAAG	0.577													C|||	329	0.0656949	0.1566	0.0591	5008	,	,		16824	0.0198		0.0388	False		,,,				2504	0.0225				p.P730P		Atlas-SNP	.											.	RBM33	157	.	0			c.C2190G						PASS	.	C		634,3772	274.0+/-271.7	36,562,1605	93	91	92		2190	-5.4	0	7	dbSNP_130	92	309,8291	111.0+/-171.3	4,301,3995	no	coding-synonymous	RBM33	NM_053043.2		40,863,5600	GG,GC,CC		3.593,14.3895,7.2505		730/1171	155534653	943,12063	2203	4300	6503	SO:0001819	synonymous_variant	155435	exon13			CACGCCCTCAGCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2190C>G	7.37:g.155534653C>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	130	54	0.415385	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	136	0.06227106227106227	71	0.1443089430894309	18	0.049723756906077346	13	0.022727272727272728	34	0.044854881266490766	C	2.751	-0.260061	0.05791	0.143895	0.03593	ENSG00000184863	ENST00000392761	T	0.28255	1.62	5.66	-5.38	0.02673	.	0.182576	0.39274	N	0.001411	T	0.00178	0.0005	.	.	.	0.09310	P	0.999999999673283	.	.	.	.	.	.	T	0.07616	-1.0763	6	0.59425	D	0.04	.	3.1545	0.06499	0.1798:0.3819:0.092:0.3462	.	.	.	.	R	502	ENSP00000376514:P502R	ENSP00000376514:P502R	P	+	2	0	RBM33	155227414	0.104000	0.21937	0.000000	0.03702	0.262000	0.26303	-1.069000	0.03444	-1.364000	0.02161	-0.229000	0.12294	CCT	C|0.931;G|0.069	0.069	strong		0.577	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		G	155534653	C	G	155534653	2	3	22	1	0	0	0	0	0	0	0	1	13130	668	24	4		4	RBM33	7	155534653	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3573	155534653	3604010	4615	9723										
NOM1	64434	hgsc.bcm.edu	37	chr7	156745224	156745224	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtgaggcaagctgaggaGacagtggacttcaagaaaaa	13	6	1	4	rs59371845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:156745224G>A	ENST00000275820.3	+	2	1059	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	348						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGCTGAGGAGACAGTGGACT	0.393													G|||	267	0.0533147	0.1906	0.0202	5008	,	,		21925	0.0		0.001	False		,,,				2504	0.0				p.E348E		Atlas-SNP	.											.	NOM1	73	.	0			c.G1044A						PASS	.	G		715,3691	298.1+/-285.1	53,609,1541	104	94	98		1044	1	0	7	dbSNP_129	98	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	NOM1	NM_138400.1		53,613,5837	AA,AG,GG		0.0465,16.2279,5.5282		348/861	156745224	719,12287	2203	4300	6503	SO:0001819	synonymous_variant	64434	exon2			TGAGGAGACAGTG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1044G>A	7.37:g.156745224G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	166	81	0.487952	NM_138400	Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																			G|0.950;A|0.050	0.050	strong		0.393	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156745224	G	A	156745224	2	1	22	1	0	0	0	0	0	0	0	1	10530	933	33	2		2	NOM1	7	156745224	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1210571	156745224	2393439	4616	9724										
NOM1	64434	hgsc.bcm.edu	37	chr7	156754895	156754895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagaacaatgacatgcgCaaaattccaggctatgaccc	8	11	0	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:156754895C>T	ENST00000275820.3	+	5	1698	c.1683C>T	c.(1681-1683)cgC>cgT	p.R561R		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	561						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATGACATGCGCAAAATTCCAG	0.428																																					p.R561R		Atlas-SNP	.											NOM1,NS,carcinoma,+1,1	NOM1	73	1	0			c.C1683T						scavenged	.						205	203	204					7																	156754895		2203	4300	6503	SO:0001819	synonymous_variant	64434	exon5			CATGCGCAAAATT	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1683C>T	7.37:g.156754895C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	220	4	0.0181818	NM_138400	Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																			.	.	none		0.428	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		T	156754895	C	T	156754895	2	4	22	1	0	0	0	0	0	0	0	1	10530	697	25	2		2	NOM1	7	156754895	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9671	156754895	2383768	4617	9725										
UBE3C	9690	hgsc.bcm.edu	37	chr7	157000176	157000176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaatcatcccactcttttaTctttttagctccttgtttag	4	11	3	0	rs2301914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157000176T>C	ENST00000348165.5	+	12	1863	c.1503T>C	c.(1501-1503)taT>taC	p.Y501Y		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	501					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CACTCTTTTATCTTTTTAGCT	0.373													C|||	2552	0.509585	0.8253	0.3934	5008	,	,		18213	0.4534		0.3648	False		,,,				2504	0.3722				p.Y501Y		Atlas-SNP	.											.	UBE3C	124	.	0			c.T1503C						PASS	.	C		3334,1072	391.9+/-328.3	1256,822,125	151	147	148		1503	3.4	1	7	dbSNP_100	148	3034,5566	663.7+/-402.1	530,1974,1796	no	coding-synonymous	UBE3C	NM_014671.2		1786,2796,1921	CC,CT,TT		35.2791,24.3305,48.962		501/1084	157000176	6368,6638	2203	4300	6503	SO:0001819	synonymous_variant	9690	exon12			CTTTTATCTTTTT	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1503T>C	7.37:g.157000176T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	161	161	1	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	CCDS34789.1																																																																																			T|0.498;C|0.502	0.502	strong		0.373	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		C	157000176	T	C	157000176	2	2	22	1	0	0	0	0	0	0	0	1	16878	1442	50	2		2	UBE3C	7	157000176	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	245281	157000176	2138487	4618	9726										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157931151	157931151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctccaggccactcaggcCcctcacctcagccggctgcc	9	21	3	0	rs150508509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157931151C>G	ENST00000389418.4	-	7	976	c.967G>C	c.(967-969)Ggc>Cgc	p.G323R	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G285R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G306R|PTPRN2_ENST00000389413.3_Missense_Mutation_p.G323R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G346R	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	323				G -> R (in Ref. 2; CAA69880). {ECO:0000305}.	negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCACTCAGGCCCCTCACCTCA	0.632													C|||	93	0.0185703	0.053	0.0058	5008	,	,		19317	0.0		0.0	False		,,,				2504	0.0194				p.G323R		Atlas-SNP	.											.	PTPRN2	243	.	0			c.G967C						PASS	.		ARG/GLY,ARG/GLY,ARG/GLY	217,4189	127.0+/-164.0	3,211,1989	62	64	64		967,916,967	-4.9	0	7	dbSNP_134	64	1,8599		0,1,4299	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	125,125,125	3,212,6288	GG,GC,CC		0.0116,4.9251,1.6761	benign,benign,benign	323/1016,306/999,323/987	157931151	218,12788	2203	4300	6503	SO:0001583	missense	5799	exon7			TCAGGCCCCTCAC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.967G>C	7.37:g.157931151C>G	ENSP00000374069:p.Gly323Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	101	35	0.346535	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	29	0.013278388278388278	26	0.052845528455284556	3	0.008287292817679558	0	0.0	0	0.0	C	3.517	-0.098660	0.07010	0.049251	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02552	4.25;4.27;4.26;4.26;4.25	4.11	-4.94	0.03057	.	.	.	.	.	T	0.00271	0.0008	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.48269	-0.9050	9	0.15499	T	0.54	.	5.6925	0.17837	0.0:0.3821:0.1927:0.4252	.	346;285;323;306;323	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	R	285;323;306;323;346	ENSP00000387114:G285R;ENSP00000374064:G323R;ENSP00000374067:G306R;ENSP00000374069:G323R;ENSP00000385464:G346R	ENSP00000374064:G323R	G	-	1	0	PTPRN2	157623912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.128000	0.15810	-1.148000	0.02847	-0.312000	0.09012	GGC	C|0.981;G|0.019	0.019	strong		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			G	157931151	C	G	157931151	3	3	22	1	0	0	0	0	1	0	0	0	12808	623	22	4	2148	4	PTPRN2	7	157931151	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	930975	157931151	1207512	4619	9727										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157959794	157959794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgggcagcataggcacTgagggccgccatcagatggt	14	12	2	2	rs73745196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157959794T>C	ENST00000389418.4	-	6	748	c.739A>G	c.(739-741)Agt>Ggt	p.S247G	PTPRN2_ENST00000409483.1_Missense_Mutation_p.S209G|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S230G|PTPRN2_ENST00000389413.3_Missense_Mutation_p.S247G|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S270G	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	247				S -> G (in Ref. 2; CAA69880). {ECO:0000305}.	negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCATAGGCACTGAGGGCCGCC	0.662													C|||	100	0.0199681	0.0688	0.0086	5008	,	,		16162	0.0		0.003	False		,,,				2504	0.0				p.S247G		Atlas-SNP	.											.	PTPRN2	243	.	0			c.A739G						PASS	.		GLY/SER,GLY/SER,GLY/SER	297,4109	770.2+/-413.7	12,273,1918	27	23	25		739,688,739	-0.8	0	7	dbSNP_130	25	0,8600		0,0,4300	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	56,56,56	12,273,6218	CC,CT,TT		0.0,6.7408,2.2836	benign,benign,benign	247/1016,230/999,247/987	157959794	297,12709	2203	4300	6503	SO:0001583	missense	5799	exon6			AGGCACTGAGGGC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.739A>G	7.37:g.157959794T>C	ENSP00000374069:p.Ser247Gly	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	64	35	0.546875	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	49	0.022435897435897436	42	0.08536585365853659	4	0.011049723756906077	0	0.0	3	0.00395778364116095	C	0.036	-1.306812	0.01353	0.067408	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02916	4.12;4.13;4.12;4.12;4.11	4.59	-0.828	0.10799	.	0.484707	0.13807	N	0.361341	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.48080	-0.9066	10	0.19147	T	0.46	.	10.525	0.44943	0.0:0.1914:0.0:0.8086	.	270;209;247;230;247	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	G	209;247;230;247;270	ENSP00000387114:S209G;ENSP00000374064:S247G;ENSP00000374067:S230G;ENSP00000374069:S247G;ENSP00000385464:S270G	ENSP00000374064:S247G	S	-	1	0	PTPRN2	157652555	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.189000	0.09629	-0.624000	0.05611	-1.071000	0.02255	AGT	T|0.974;C|0.026	0.026	strong		0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			C	157959794	T	C	157959794	3	2	22	1	0	0	0	0	1	0	0	0	12808	1580	55	3	2380	3	PTPRN2	7	157959794	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28643	157959794	1178869	4620	9728										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157959870	157959870	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctggctggagctggccGagggtccgcggcaggaggtc	18	11	2	0	rs112343839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157959870G>T	ENST00000389418.4	-	6	672	c.663C>A	c.(661-663)ctC>ctA	p.L221L	PTPRN2_ENST00000409483.1_Silent_p.L183L|PTPRN2_ENST00000389416.4_Silent_p.L204L|PTPRN2_ENST00000389413.3_Silent_p.L221L|PTPRN2_ENST00000404321.2_Silent_p.L244L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	221					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGAGCTGGCCGAGGGTCCGCG	0.667													G|||	49	0.00978435	0.034	0.0043	5008	,	,		16342	0.0		0.001	False		,,,				2504	0.0				p.L221L		Atlas-SNP	.											.	PTPRN2	243	.	0			c.C663A						PASS	.		,,	161,4245	105.6+/-144.1	5,151,2047	40	39	39		663,612,663	-1.8	0	7	dbSNP_132	39	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	5,151,6347	TT,TG,GG		0.0,3.6541,1.2379	,,	221/1016,204/999,221/987	157959870	161,12845	2203	4300	6503	SO:0001819	synonymous_variant	5799	exon6			CTGGCCGAGGGTC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.663C>A	7.37:g.157959870G>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																			G|0.985;T|0.015	0.015	strong		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157959870	G	T	157959870	2	4	22	1	0	0	0	0	0	0	0	1	12808	1045	37	4		4	PTPRN2	7	157959870	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76	157959870	1178793	4621	9729										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157959888	157959888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagggtccgcggcaggagGtcctcgcggagctgggtccg	19	13	0	0	rs73745197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157959888G>A	ENST00000389418.4	-	6	654	c.645C>T	c.(643-645)gaC>gaT	p.D215D	PTPRN2_ENST00000409483.1_Silent_p.D177D|PTPRN2_ENST00000389416.4_Silent_p.D198D|PTPRN2_ENST00000389413.3_Silent_p.D215D|PTPRN2_ENST00000404321.2_Silent_p.D238D	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	215					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGGCAGGAGGTCCTCGCGGA	0.652													G|||	100	0.0199681	0.0688	0.0086	5008	,	,		15889	0.0		0.003	False		,,,				2504	0.0				p.D215D		Atlas-SNP	.											.	PTPRN2	243	.	0			c.C645T						PASS	.		,,	303,4101	159.2+/-191.8	12,279,1911	42	42	42		645,594,645	2.3	0	7	dbSNP_130	42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	12,279,6211	AA,AG,GG		0.0,6.8801,2.3301	,,	215/1016,198/999,215/987	157959888	303,12701	2202	4300	6502	SO:0001819	synonymous_variant	5799	exon6			CAGGAGGTCCTCG	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.645C>T	7.37:g.157959888G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	70	40	0.571429	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																			G|0.973;A|0.027	0.027	strong		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157959888	G	A	157959888	2	1	22	1	0	0	0	0	0	0	0	1	12808	1252	44	2		2	PTPRN2	7	157959888	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	157959888	1178775	4622	9730										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157985149	157985149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagcaccgccctcccgaCtgtacctcctctcgctgcca	9	20	1	0	rs3800855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:157985149C>G	ENST00000389418.4	-	5	428	c.419G>C	c.(418-420)aGt>aCt	p.S140T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.S102T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S123T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.S140T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S163T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	140			S -> T (in dbSNP:rs3800855). {ECO:0000269|Ref.4}.		negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCTCCCGACTGTACCTCCT	0.632													C|||	1224	0.244409	0.3752	0.1945	5008	,	,		15910	0.1944		0.169	False		,,,				2504	0.2321				p.S140T		Atlas-SNP	.											.	PTPRN2	243	.	0			c.G419C						PASS	.		THR/SER,THR/SER,THR/SER	1508,2898	454.9+/-350.8	273,962,968	51	60	57		419,368,419	1.4	0	7	dbSNP_107	57	1280,7320	243.1+/-272.8	91,1098,3111	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	58,58,58	364,2060,4079	GG,GC,CC		14.8837,34.2261,21.4363	possibly-damaging,possibly-damaging,possibly-damaging	140/1016,123/999,140/987	157985149	2788,10218	2203	4300	6503	SO:0001583	missense	5799	exon5			TCCCGACTGTACC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.419G>C	7.37:g.157985149C>G	ENSP00000374069:p.Ser140Thr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	103	59	0.572816	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	509	0.23305860805860806	188	0.3821138211382114	66	0.18232044198895028	128	0.22377622377622378	127	0.16754617414248021	C	5.064	0.197429	0.09652	0.342261	0.148837	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03524	3.94;3.9;3.95;3.97;3.96	4.17	1.36	0.22044	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.001;0.004;0.002;0.002	T	0.42816	-0.9429	8	0.12430	T	0.62	.	3.8043	0.08771	0.0:0.5724:0.2059:0.2217	rs3800855;rs10346808;rs17847434;rs3800855	163;102;140;123;140	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	102;140;123;140;163	ENSP00000387114:S102T;ENSP00000374064:S140T;ENSP00000374067:S123T;ENSP00000374069:S140T;ENSP00000385464:S163T	ENSP00000374064:S140T	S	-	2	0	PTPRN2	157677910	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.673000	0.05239	0.488000	0.27723	-0.189000	0.12847	AGT	C|0.780;G|0.220	0.220	strong		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			G	157985149	C	G	157985149	3	3	22	1	0	0	0	0	1	0	0	0	12808	565	20	4	2704	4	PTPRN2	7	157985149	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25261	157985149	1153514	4623	9731										
WDR60	55112	hgsc.bcm.edu	37	chr7	158672619	158672619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgatgatgagaggcaccAaagcaacgtggatagaaaag	12	5	0	4	rs2788478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:158672619A>G	ENST00000407559.3	+	5	976	c.818A>G	c.(817-819)cAa>cGa	p.Q273R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	273			Q -> R (in dbSNP:rs2788478).		cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGAGGCACCAAAGCAACGTG	0.438													G|||	2873	0.573682	0.7368	0.4294	5008	,	,		19248	0.7212		0.3837	False		,,,				2504	0.499				p.Q273R		Atlas-SNP	.											.	WDR60	94	.	0			c.A818G						PASS	.		ARG/GLN	2463,1307		809,845,231	73	77	76		818	0.8	0	7	dbSNP_100	76	3004,5188		552,1900,1644	yes	missense	WDR60	NM_018051.4	43	1361,2745,1875	GG,GA,AA		36.6699,34.6684,45.7031	benign	273/1067	158672619	5467,6495	1885	4096	5981	SO:0001583	missense	55112	exon5			GGCACCAAAGCAA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.818A>G	7.37:g.158672619A>G	ENSP00000384290:p.Gln273Arg	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	167	93	0.556886	NM_018051	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	1191	0.5453296703296703	354	0.7195121951219512	155	0.4281767955801105	394	0.6888111888111889	288	0.37994722955145116	G	0.033	-1.322301	0.01320	0.653316	0.366699	ENSG00000126870	ENST00000407559	T	0.18016	2.24	4.73	0.795	0.18643	.	0.669254	0.12904	N	0.429496	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	9	0.02654	T	1	0.3405	5.0153	0.14333	0.3597:0.1489:0.4914:0.0	rs2788478;rs9654723;rs10349453;rs52836646;rs56855193;rs2788478	273	Q8WVS4	WDR60_HUMAN	R	273	ENSP00000384290:Q273R	ENSP00000384290:Q273R	Q	+	2	0	WDR60	158365380	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	0.042000	0.13949	-0.043000	0.13513	-0.726000	0.03593	CAA	A|0.435;G|0.565	0.565	strong		0.438	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		G	158672619	A	G	158672619	3	3	22	1	0	0	0	0	1	0	0	0	17308	130	5	2	836	2	WDR60	7	158672619	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	687470	158672619	466044	4624	9732										
VIPR2	7434	hgsc.bcm.edu	37	chr7	158896517	158896517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaacgtctctgaccatccGtcactcgtacagtttttgct	9	12	2	1	rs2270313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr7:158896517G>A	ENST00000262178.2	-	4	473	c.288C>T	c.(286-288)gaC>gaT	p.D96D	VIPR2_ENST00000402066.1_Silent_p.D237D	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	96					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGACCATCCGTCACTCGTAC	0.507													G|||	1206	0.240815	0.3185	0.1873	5008	,	,		20770	0.1974		0.2485	False		,,,				2504	0.2106				p.D96D	Pancreas(154;1876 1931 2329 17914 20079)	Atlas-SNP	.											.	VIPR2	53	.	0			c.C288T						PASS	.	G		1334,3072	447.9+/-348.5	214,906,1083	235	192	206		288	-7.6	0.2	7	dbSNP_100	206	1995,6605	350.5+/-327.9	225,1545,2530	no	coding-synonymous	VIPR2	NM_003382.4		439,2451,3613	AA,AG,GG		23.1977,30.2769,25.5959		96/439	158896517	3329,9677	2203	4300	6503	SO:0001819	synonymous_variant	7434	exon4			CCATCCGTCACTC	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.288C>T	7.37:g.158896517G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	107	107	1	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	CCDS5950.1	560	0.2564102564102564	169	0.3434959349593496	76	0.20994475138121546	127	0.22202797202797203	188	0.24802110817941952	G	0.289	-0.981342	0.02197	0.302769	0.231977	ENSG00000106018	ENST00000418475	.	.	.	5.0	-7.55	0.01327	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.21841	P	0.999511805	.	.	.	.	.	.	T	0.24621	-1.0155	3	.	.	.	.	9.5043	0.39037	0.7778:0.0:0.1167:0.1054	rs2270313;rs2270313	.	.	.	W	92	.	.	R	-	1	2	VIPR2	158589278	0.647000	0.27304	0.188000	0.23233	0.014000	0.08584	-0.332000	0.07904	-1.063000	0.03177	-1.012000	0.02466	CGG	G|0.750;A|0.250	0.250	strong		0.507	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		A	158896517	G	A	158896517	2	1	22	1	0	0	0	0	0	0	0	1	17167	1136	40	1		1	VIPR2	7	158896517	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	223898	158896517	242146	4625	9733										
ZNF596	169270	hgsc.bcm.edu	37	chr8	195254	195254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgattacctacatgagaaCgaaacactttgtaagcaaaa	7	7	0	2	rs2074718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:195254C>A	ENST00000398612.1	+	6	790	c.407C>A	c.(406-408)aCg>aAg	p.T136K	ZNF596_ENST00000308811.4_Missense_Mutation_p.T136K|ZNF596_ENST00000320552.2_Missense_Mutation_p.T66K	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	136			T -> K (in dbSNP:rs2074718).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TACATGAGAACGAAACACTTT	0.343													.|||	901	0.179912	0.3411	0.0519	5008	,	,		21221	0.2063		0.0805	False		,,,				2504	0.1278				p.T136K		Atlas-SNP	.											.	ZNF596	34	.	0			c.C407A						PASS	.	A	LYS/THR,LYS/THR,LYS/THR	1444,2962		252,940,1011	80	81	81		407,407,407	2.5	0.3	8	dbSNP_96	81	655,7945		16,623,3661	yes	missense,missense,missense	ZNF596	NM_001042415.1,NM_001042416.1,NM_173539.2	78,78,78	268,1563,4672	AA,AC,CC		7.6163,32.7735,16.1387	benign,benign,benign	136/505,136/505,136/505	195254	2099,10907	2203	4300	6503	SO:0001583	missense	169270	exon6			TGAGAACGAAACA	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.407C>A	8.37:g.195254C>A	ENSP00000381613:p.Thr136Lys	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	150	84	0.56	NM_173539	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	382	0.1749084249084249	167	0.3394308943089431	21	0.058011049723756904	129	0.22552447552447552	65	0.08575197889182058	.	2.992	-0.207879	0.06180	0.327735	0.076163	ENSG00000172748	ENST00000521145;ENST00000308811;ENST00000320552;ENST00000398612	T;T;T;T	0.60040	2.5;0.22;3.52;0.22	2.49	2.49	0.30216	.	.	.	.	.	T	0.00012	0.0000	N	0.00462	-1.47	0.54753	P	1.6000000000016E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	8	0.52906	T	0.07	.	7.1816	0.25776	0.7719:0.2281:0.0:0.0	rs2074718;rs52814433;rs2074718	136	Q8TC21	ZN596_HUMAN	K	136;136;66;136	ENSP00000429671:T136K;ENSP00000310033:T136K;ENSP00000318719:T66K;ENSP00000381613:T136K	ENSP00000310033:T136K	T	+	2	0	ZNF596	185254	0.413000	0.25400	0.269000	0.24586	0.009000	0.06853	2.238000	0.43070	0.388000	0.25054	-0.335000	0.08231	ACG	C|0.837;A|0.163	0.163	strong		0.343	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		A	195254	C	A	195254	3	1	22	1	0	0	0	0	1	0	0	0	18023	536	19	4	425	4	ZNF596	8	195254	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10		195254	146168768	4626	9734										
ARHGEF10	9639	hgsc.bcm.edu	37	chr8	1808343	1808343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgcgccacgtccctggaCgaagaaggtactgctaccct	10	14	1	1	rs147914724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:1808343C>T	ENST00000398564.1	+	4	546	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ARHGEF10_ENST00000398560.1_Silent_p.D182D|ARHGEF10_ENST00000262112.6_Silent_p.D182D|ARHGEF10_ENST00000520359.1_Silent_p.D158D|ARHGEF10_ENST00000349830.3_Silent_p.D158D|ARHGEF10_ENST00000518288.1_Silent_p.D182D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	182					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D182D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGTCCCTGGACGAAGAAGGTA	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17485	0.0		0.0	False		,,,				2504	0.001				p.D158D		Atlas-SNP	.											ARHGEF10_ENST00000398564,colon,carcinoma,0,1	ARHGEF10	255	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T						PASS	.	C		14,4392	21.2+/-45.6	0,14,2189	80	72	74		474	-10.6	0	8	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	ARHGEF10	NM_014629.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		158/1345	1808343	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	9639	exon4			CCTGGACGAAGAA	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.546C>T	8.37:g.1808343C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	95	41	0.431579	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																				C|0.999;T|0.001	0.001	strong		0.657	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				T	1808343	C	T	1808343	2	4	22	1	0	0	0	0	0	0	0	1	894	535	19	1		1	ARHGEF10	8	1808343	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1613089	1808343	144555679	4627	9735										
ARHGEF10	9639	hgsc.bcm.edu	37	chr8	1905222	1905222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctctctagagcacagatcAgaggacagcaccatctatga	9	11	3	4	rs146227529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:1905222A>G	ENST00000398564.1	+	29	3903	c.3903A>G	c.(3901-3903)tcA>tcG	p.S1301S	ARHGEF10_ENST00000262112.6_Silent_p.S1272S|ARHGEF10_ENST00000520359.1_Silent_p.S1238S|ARHGEF10_ENST00000349830.3_Silent_p.S1276S|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000518288.1_Silent_p.S1300S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1301	Ser-rich.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGCACAGATCAGAGGACAGCA	0.572													A|||	16	0.00319489	0.0106	0.0029	5008	,	,		17994	0.0		0.0	False		,,,				2504	0.0				p.S1276S		Atlas-SNP	.											.	ARHGEF10	255	.	0			c.A3828G						PASS	.	A		40,4366	44.6+/-78.6	1,38,2164	71	67	68		3828	-11.4	0	8	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	ARHGEF10	NM_014629.2		1,38,6464	GG,GA,AA		0.0,0.9079,0.3076		1276/1345	1905222	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	9639	exon29			CAGATCAGAGGAC	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3903A>G	8.37:g.1905222A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																				A|0.996;G|0.004	0.004	strong		0.572	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				G	1905222	A	G	1905222	2	3	22	1	0	0	0	0	0	0	0	1	894	175	7	3		3	ARHGEF10	8	1905222	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	96879	1905222	144458800	4628	9736										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2037833	2037833	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgtttctctttgtagtcGgtggtggggagcggcagctg	16	7	2	0	rs2294061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2037833G>C	ENST00000262113.4	+	15	1788	c.1647G>C	c.(1645-1647)tcG>tcC	p.S549S	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	549	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTTGTAGTCGGTGGTGGGGA	0.557													C|||	1122	0.224042	0.4244	0.1628	5008	,	,		18049	0.2083		0.162	False		,,,				2504	0.0767				p.S549S		Atlas-SNP	.											.	MYOM2	251	.	0			c.G1647C						PASS	.	C		1674,2732	650.5+/-399.1	321,1032,850	64	65	65		1647	-5.2	0	8	dbSNP_100	65	1257,7343	756.6+/-407.5	92,1073,3135	no	coding-synonymous	MYOM2	NM_003970.2		413,2105,3985	CC,CG,GG		14.6163,37.9936,22.5358		549/1466	2037833	2931,10075	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon15			GTAGTCGGTGGTG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1647G>C	8.37:g.2037833G>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	121	53	0.438017	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			G|0.783;C|0.217	0.217	strong		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2037833	G	C	2037833	2	2	22	1	0	0	0	0	0	0	0	1	10092	1103	39	4		4	MYOM2	8	2037833	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132611	2037833	144326189	4629	9737										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2048831	2048831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcagacgacaacagccaAccgttatttaaaggtaagtc	7	9	1	1	rs968381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2048831A>G	ENST00000262113.4	+	20	2747	c.2606A>G	c.(2605-2607)aAc>aGc	p.N869S	MYOM2_ENST00000523438.1_Missense_Mutation_p.N294S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	869	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		N -> S (in dbSNP:rs968381). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505783}.		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAACAGCCAACCGTTATTTA	0.527													A|||	2306	0.460463	0.6831	0.3573	5008	,	,		18243	0.4048		0.335	False		,,,				2504	0.4192				p.N869S		Atlas-SNP	.											MYOM2,NS,carcinoma,0,1	MYOM2	251	1	0			c.A2606G						PASS	.	A	SER/ASN	2828,1578	659.7+/-400.6	920,988,295	65	70	68		2606	4.4	0	8	dbSNP_86	68	2853,5747	443.3+/-360.3	494,1865,1941	yes	missense	MYOM2	NM_003970.2	46	1414,2853,2236	GG,GA,AA		33.1744,35.8148,43.6798	benign	869/1466	2048831	5681,7325	2203	4300	6503	SO:0001583	missense	9172	exon20			CAGCCAACCGTTA		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2606A>G	8.37:g.2048831A>G	ENSP00000262113:p.Asn869Ser	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	928	0.4249084249084249	318	0.6463414634146342	133	0.3674033149171271	227	0.3968531468531469	250	0.32981530343007914	A	5.934	0.356400	0.11239	0.641852	0.331744	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.56941	0.43;0.43	5.55	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.278757	0.39210	N	0.001422	T	0.00012	0.0000	L	0.33137	0.985	0.53688	P	2.199999999996649E-5	B	0.15473	0.013	B	0.17979	0.02	T	0.41502	-0.9505	9	0.34782	T	0.22	.	11.4648	0.50232	0.9293:0.0:0.0707:0.0	rs968381;rs3758066;rs17857421;rs52824117;rs57664364;rs968381	869	P54296	MYOM2_HUMAN	S	869;294	ENSP00000262113:N869S;ENSP00000428396:N294S	ENSP00000262113:N869S	N	+	2	0	MYOM2	2036238	0.543000	0.26434	0.016000	0.15963	0.004000	0.04260	3.935000	0.56560	0.937000	0.37394	0.523000	0.50628	AAC	A|0.561;G|0.439	0.439	strong		0.527	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2048831	A	G	2048831	3	3	22	1	0	0	0	0	1	0	0	0	10092	43	2	2	2680	2	MYOM2	8	2048831	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10998	2048831	144315191	4630	9738										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2050564	2050564	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcctgtgctggtagaggcGagaccaggtaaggcttacaa	15	8	0	2	rs34460811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2050564G>A	ENST00000262113.4	+	21	2868	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	MYOM2_ENST00000523438.1_Silent_p.A334A	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	909	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGTAGAGGCGAGACCAGGTA	0.498													G|||	45	0.00898562	0.0333	0.0014	5008	,	,		21003	0.0		0.0	False		,,,				2504	0.0				p.A909A		Atlas-SNP	.											.	MYOM2	251	.	0			c.G2727A						PASS	.	G		115,4291	86.8+/-125.4	2,111,2090	61	53	55		2727	-7.8	0.2	8	dbSNP_126	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		2,112,6389	AA,AG,GG		0.0116,2.6101,0.8919		909/1466	2050564	116,12890	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon21			AGAGGCGAGACCA		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2727G>A	8.37:g.2050564G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	53	21	0.396226	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			G|0.991;A|0.009	0.009	strong		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2050564	G	A	2050564	2	1	22	1	0	0	0	0	0	0	0	1	10092	1045	37	1		1	MYOM2	8	2050564	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1733	2050564	144313458	4631	9739										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2088697	2088697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatcggggggagtgaagaGatggcttggctgcagatatg	18	4	0	4	rs34735757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2088697G>C	ENST00000262113.4	+	33	3993	c.3852G>C	c.(3850-3852)gaG>gaC	p.E1284D	MYOM2_ENST00000523438.1_Missense_Mutation_p.E709D|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1284			E -> D (in dbSNP:rs34735757).		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGAGTGAAGAGATGGCTTGGC	0.458													G|||	55	0.0109824	0.0386	0.0043	5008	,	,		15452	0.001		0.0	False		,,,				2504	0.0				p.E1284D		Atlas-SNP	.											.	MYOM2	251	.	0			c.G3852C						PASS	.	G	ASP/GLU	155,4251	106.9+/-145.3	1,153,2049	121	116	118		3852	-1.4	0.7	8	dbSNP_126	118	1,8599		0,1,4299	yes	missense	MYOM2	NM_003970.2	45	1,154,6348	CC,CG,GG		0.0116,3.5179,1.1994	benign	1284/1466	2088697	156,12850	2203	4300	6503	SO:0001583	missense	9172	exon33			TGAAGAGATGGCT		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3852G>C	8.37:g.2088697G>C	ENSP00000262113:p.Glu1284Asp	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	G	11.14	1.551354	0.27739	0.035179	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.34667	1.35;1.35	5.02	-1.4	0.08968	Immunoglobulin-like fold (1);	0.345909	0.29473	N	0.012055	T	0.03739	0.0106	L	0.28556	0.865	0.29986	N	0.817304	B	0.06786	0.001	B	0.06405	0.002	T	0.06285	-1.0835	10	0.24483	T	0.36	.	0.3472	0.00343	0.231:0.2232:0.1729:0.373	rs34735757	1284	P54296	MYOM2_HUMAN	D	1284;709	ENSP00000262113:E1284D;ENSP00000428396:E709D	ENSP00000262113:E1284D	E	+	3	2	MYOM2	2076104	0.995000	0.38212	0.652000	0.29579	0.922000	0.55478	0.369000	0.20416	-0.371000	0.08004	0.655000	0.94253	GAG	G|0.986;C|0.014	0.014	strong		0.458	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2088697	G	C	2088697	3	2	22	1	0	0	0	0	1	0	0	0	10092	933	33	4	3978	4	MYOM2	8	2088697	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38133	2088697	144275325	4632	9740										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2092803	2092803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagaagatcgacgtgacAgtgagcgtgtacaaacacgg	16	7	0	4	rs1063523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2092803A>G	ENST00000262113.4	+	37	4437	c.4296A>G	c.(4294-4296)acA>acG	p.T1432T	MYOM2_ENST00000523438.1_Silent_p.T857T|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1432	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGACGTGACAGTGAGCGTGT	0.587													G|||	1206	0.240815	0.2481	0.2435	5008	,	,		13751	0.2292		0.2883	False		,,,				2504	0.1922				p.T1432T		Atlas-SNP	.											.	MYOM2	251	.	0			c.A4296G						PASS	.	G		1137,3269	716.8+/-408.6	130,877,1196	108	92	98		4296	-9.3	0.1	8	dbSNP_86	98	2274,6326	707.3+/-405.6	301,1672,2327	no	coding-synonymous	MYOM2	NM_003970.2		431,2549,3523	GG,GA,AA		26.4419,25.8057,26.2264		1432/1466	2092803	3411,9595	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon37			CGTGACAGTGAGC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4296A>G	8.37:g.2092803A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	93	39	0.419355	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			A|0.741;G|0.259	0.259	strong		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2092803	A	G	2092803	2	3	22	1	0	0	0	0	0	0	0	1	10092	175	7	3		3	MYOM2	8	2092803	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4106	2092803	144271219	4633	9741										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2800096	2800096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggtgccgtggtaatgaCtggaagagtcttgatctggg	16	6	2	3	rs11984691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2800096C>T	ENST00000520002.1	-	70	10991	c.10436G>A	c.(10435-10437)aGt>aAt	p.S3479N	CSMD1_ENST00000542608.1_Missense_Mutation_p.S3301N|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3479N|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3302N|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3478N|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3302N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3479			S -> N (in dbSNP:rs11984691).			integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGGTAATGACTGGAAGAGTC	0.378													c|||	303	0.0605032	0.177	0.0346	5008	,	,		16155	0.0069		0.0119	False		,,,				2504	0.0266				p.S3478N		Atlas-SNP	.											.	CSMD1	1469	.	0			c.G10433A						PASS	.	T	ASN/SER	559,3139		50,459,1340	47	50	49		10433	0.6	0	8	dbSNP_120	49	146,8032		3,140,3946	yes	missense	CSMD1	NM_033225.5	46	53,599,5286	TT,TC,CC		1.7853,15.1163,5.9363	benign	3478/3565	2800096	705,11171	1849	4089	5938	SO:0001583	missense	64478	exon69			TAATGACTGGAAG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10436G>A	8.37:g.2800096C>T	ENSP00000430733:p.Ser3479Asn	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	71	42	0.591549	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		133	0.060897435897435896	106	0.21544715447154472	17	0.04696132596685083	4	0.006993006993006993	6	0.0079155672823219	c	0.274	-0.990665	0.02162	0.151163	0.017853	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.22539	1.95;2.03;2.05;1.95	5.67	0.558	0.17266	.	0.121454	0.53938	N	0.000060	T	0.00012	0.0000	N	0.01505	-0.83	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.45411	-0.9263	9	0.02654	T	1	.	11.0611	0.47948	0.0:0.2633:0.0:0.7367	rs11984691;rs52793013;rs59724479;rs11984691	3479;3479;3301	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	N	3302;3479;3340;3478;3301	ENSP00000383047:S3302N;ENSP00000430733:S3479N;ENSP00000441462:S3478N;ENSP00000446243:S3301N	ENSP00000320445:S3340N	S	-	2	0	CSMD1	2787503	0.957000	0.32711	0.000000	0.03702	0.003000	0.03518	1.593000	0.36686	-0.388000	0.07797	-2.082000	0.00379	AGT	C|0.939;T|0.061	0.061	strong		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2800096	C	T	2800096	3	4	22	1	0	0	0	0	1	0	0	0	3944	565	20	2	269	2	CSMD1	8	2800096	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	707293	2800096	143563926	4634	9742										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2820043	2820043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcttggcagactcttctGgaggatcccacgagtataaa	10	10	3	1	rs4876056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:2820043G>T	ENST00000520002.1	-	62	10131	c.9576C>A	c.(9574-9576)tcC>tcA	p.S3192S	CSMD1_ENST00000542608.1_Silent_p.S3014S|CSMD1_ENST00000602557.1_Silent_p.S3192S|CSMD1_ENST00000602723.1_Silent_p.S3015S|CSMD1_ENST00000537824.1_Silent_p.S3191S|CSMD1_ENST00000400186.3_Silent_p.S3015S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3192	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACTCTTCTGGAGGATCCCA	0.498													T|||	638	0.127396	0.3336	0.0836	5008	,	,		16851	0.1081		0.0229	False		,,,				2504	0.0072				p.S3191S		Atlas-SNP	.											CSMD1_ENST00000318252,NS,carcinoma,-1,1	CSMD1	1469	1	0			c.C9573A						PASS	.	T		1080,2772		146,788,992	65	64	64		9573	-11.2	0	8	dbSNP_111	64	236,8022		1,234,3894	no	coding-synonymous	CSMD1	NM_033225.5		147,1022,4886	TT,TG,GG		2.8578,28.0374,10.8671		3191/3565	2820043	1316,10794	1926	4129	6055	SO:0001819	synonymous_variant	64478	exon61			TCTTCTGGAGGAT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9576C>A	8.37:g.2820043G>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	86	49	0.569767	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		266	0.12179487179487179	169	0.3434959349593496	24	0.06629834254143646	60	0.1048951048951049	13	0.017150395778364115	T	0.437	-0.900256	0.02472	0.280374	0.028578	ENSG00000183117	ENST00000335551	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22903	P	0.99858238	.	.	.	.	.	.	T	0.24584	-1.0156	3	.	.	.	.	11.6209	0.51117	0.0:0.2273:0.1926:0.5801	rs4876056;rs4876056	.	.	.	K	2609	.	.	Q	-	1	0	CSMD1	2807450	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-2.681000	0.00837	-4.931000	0.00027	-0.256000	0.11100	CAG	G|0.871;T|0.129	0.129	strong		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2820043	G	T	2820043	2	4	22	1	0	0	0	0	0	0	0	1	3944	1335	47	4		4	CSMD1	8	2820043	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19947	2820043	143543979	4635	9743										
CSMD1	64478	hgsc.bcm.edu	37	chr8	3245054	3245054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggttccactggtggttcCtctcacagacgaggggctcg	14	12	1	1	rs73657835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:3245054C>T	ENST00000520002.1	-	19	3302	c.2747G>A	c.(2746-2748)aGg>aAg	p.R916K	CSMD1_ENST00000602557.1_Missense_Mutation_p.R916K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R915K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R915K|CSMD1_ENST00000539096.1_Missense_Mutation_p.R915K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R916K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R916K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	916	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGTGGTTCCTCTCACAGAC	0.597													C|||	175	0.0349441	0.1225	0.0173	5008	,	,		18677	0.0		0.001	False		,,,				2504	0.0				p.R915K		Atlas-SNP	.											CSMD1_ENST00000537824,NS,carcinoma,+1,2	CSMD1	1469	2	0			c.G2744A						PASS	.	C	LYS/ARG	365,3837		16,333,1752	43	49	47		2744	1.2	0.1	8	dbSNP_130	47	0,8430		0,0,4215	yes	missense	CSMD1	NM_033225.5	26	16,333,5967	TT,TC,CC		0.0,8.6863,2.8895	benign	915/3565	3245054	365,12267	2101	4215	6316	SO:0001583	missense	64478	exon18			TGGTTCCTCTCAC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2747G>A	8.37:g.3245054C>T	ENSP00000430733:p.Arg916Lys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		73	0.033424908424908424	67	0.13617886178861788	6	0.016574585635359115	0	0.0	0	0.0	C	0.079	-1.186530	0.01620	0.086863	0.0	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.11	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.221554	0.38959	N	0.001512	T	0.00178	0.0005	N	0.01277	-0.915	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.08659	-1.0711	10	0.02654	T	1	.	8.3499	0.32297	0.0:0.6186:0.0:0.3814	.	916;916;916	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	K	916;916;778;915;915;915	ENSP00000383047:R916K;ENSP00000430733:R916K;ENSP00000441462:R915K;ENSP00000446243:R915K;ENSP00000441675:R915K	ENSP00000320445:R778K	R	-	2	0	CSMD1	3232461	0.012000	0.17670	0.095000	0.20976	0.375000	0.29983	0.150000	0.16263	-0.053000	0.13289	-0.157000	0.13467	AGG	C|0.966;T|0.034	0.034	strong		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3245054	C	T	3245054	3	4	22	1	0	0	0	0	1	0	0	0	3944	681	24	2	8162	2	CSMD1	8	3245054	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	425011	3245054	143118968	4636	9744										
CSMD1	64478	hgsc.bcm.edu	37	chr8	3432586	3432586	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagattggatccacatgttcTcgctggaaacacatagaaac	8	10	1	2	rs146006696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:3432586T>G	ENST00000520002.1	-	11	1783	c.1228A>C	c.(1228-1230)Aga>Cga	p.R410R	CSMD1_ENST00000542608.1_Silent_p.R409R|CSMD1_ENST00000602557.1_Silent_p.R410R|CSMD1_ENST00000602723.1_Silent_p.R410R|CSMD1_ENST00000537824.1_Silent_p.R409R|CSMD1_ENST00000539096.1_Silent_p.R409R|CSMD1_ENST00000400186.3_Silent_p.R410R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	410						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACATGTTCTCGCTGGAAAC	0.413													T|||	54	0.0107827	0.0393	0.0029	5008	,	,		20627	0.0		0.0	False		,,,				2504	0.0				p.R409R		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A1225C						PASS	.	T		97,3963		2,93,1935	60	68	65		1225	2.6	0.8	8	dbSNP_134	65	0,8358		0,0,4179	no	coding-synonymous	CSMD1	NM_033225.5		2,93,6114	GG,GT,TT		0.0,2.3892,0.7811		409/3565	3432586	97,12321	2030	4179	6209	SO:0001819	synonymous_variant	64478	exon10			ATGTTCTCGCTGG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1228A>C	8.37:g.3432586T>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	75	31	0.413333	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37																																																																																				T|0.988;G|0.012	0.012	strong		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	3432586	T	G	3432586	2	3	22	1	0	0	0	0	0	0	0	1	3944	1559	54	5		5	CSMD1	8	3432586	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	187532	3432586	142931436	4637	9745										
XKR5	389610	hgsc.bcm.edu	37	chr8	6690276	6690276	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtaggaggtgcagcatcaTcaaggagcaatgccctggat	13	9	2	0	rs2741098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:6690276T>C	ENST00000518724.1	-	0	355				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				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)		TGCAGCATCATCAAGGAGCAA	0.577													C|||	3352	0.669329	0.9123	0.513	5008	,	,		18947	0.5516		0.5368	False		,,,				2504	0.7096				p.M69V		Atlas-SNP	.											.	XKR5	20	.	0			c.A205G						PASS	.	C	VAL/MET	3532,648		1493,546,51	96	107	103		205	0.5	0	8	dbSNP_100	103	4446,3982		1176,2094,944	yes	missense	XKR5	NM_207411.4	21	2669,2640,995	CC,CT,TT		47.2473,15.5024,36.7227	benign	69/687	6690276	7978,4630	2090	4214	6304			389610	exon2			GCATCATCAAGGA	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		8.37:g.6690276T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	107	107	1	NM_207411	Q5GH74	Missense_Mutation	SNP	ENST00000518724.1	37																																																																																				T|0.360;C|0.640	0.640	strong		0.577	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		C	6690276	T	C	6690276	1	2	22	0	1	0	0	0	0	0	0	0	17431	1435	50	2		2	XKR5	8	6690276	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3257690	6690276	139673746	4638	9746										
DEFB1	1672	hgsc.bcm.edu	37	chr8	6728298	6728298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattgccctccactgctgaCgcaattgtaatgatcagatc	7	12	1	3	rs2738047|rs397732952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:6728298C>T	ENST00000297439.3	-	2	276	c.112G>A	c.(112-114)Gtc>Atc	p.V38I		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	38			V -> I (in dbSNP:rs2738047).		acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		CCACTGCTGACGCAATTGTAA	0.498													C|||	199	0.0397364	0.1384	0.0043	5008	,	,		18887	0.0069		0.002	False		,,,				2504	0.0041				p.V38I	Pancreas(35;916 948 9612 33610 36642)	Atlas-SNP	.											.	DEFB1	4	.	0			c.G112A	GRCh37	CM020372	DEFB1	M	rs2738047	PASS	.	C	ILE/VAL	545,3861	249.6+/-257.0	36,473,1694	122	99	107		112	2.2	0	8	dbSNP_100	107	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DEFB1	NM_005218.3	29	36,479,5988	TT,TC,CC		0.0698,12.3695,4.2365	benign	38/69	6728298	551,12455	2203	4300	6503	SO:0001583	missense	1672	exon2			TGCTGACGCAATT	X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"Defensins, beta"	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.112G>A	8.37:g.6728298C>T	ENSP00000297439:p.Val38Ile	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	128	71	0.554688	NM_005218	Q09753	Missense_Mutation	SNP	ENST00000297439.3	37	CCDS5959.1	62	0.028388278388278388	56	0.11382113821138211	0	0.0	6	0.01048951048951049	0	0.0	C	13.89	2.373486	0.42105	0.123695	6.98E-4	ENSG00000164825	ENST00000297439	T	0.21543	2.0	4.24	2.16	0.27623	.	1.226530	0.06201	N	0.683220	T	0.00178	0.0005	.	.	.	0.09310	N	1	P	0.49696	0.927	B	0.29440	0.102	T	0.28870	-1.0030	9	0.41790	T	0.15	-4.8641	9.8265	0.40914	0.0:0.589:0.411:0.0	rs2738047;rs52816296;rs60091306;rs2738047	38	P60022	DEFB1_HUMAN	I	38	ENSP00000297439:V38I	ENSP00000297439:V38I	V	-	1	0	DEFB1	6715708	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.025000	0.13577	1.041000	0.40125	0.563000	0.77884	GTC	T|0.041;C|0.959	0.041	strong		0.498	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251292.1	NM_005218		T	6728298	C	T	6728298	3	4	22	1	0	0	0	0	1	0	0	0	4394	536	19	1	98	1	DEFB1	8	6728298	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38022	6728298	139635724	4639	9747										
DEFA1	1668	hgsc.bcm.edu	37	chr8	6873603	6873603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtattctgcaatagcagTccatgtttttccttgagcct	8	10	1	1	rs145076681		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																					p.D65A		Atlas-SNP	.											DEFA3,NS,carcinoma,0,1	DEFA3	7	1	1	Substitution - Missense(1)	prostate(1)	c.A194C						scavenged	.						156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668	exon3			TAGCAGTCCATGT	M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala	Somatic	689	28	0.0406386		WXS	Illumina HiSeq	Phase_I	696	29	0.0416667	NM_005217	P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC	T|0.167;G|0.833	0.833	strong		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	22	1	0	0	0	0	1	0	0	0	4388	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	145305	6873603	139490419	4640	9748										
SGK223	157285	hgsc.bcm.edu	37	chr8	8175868	8175868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccgcacagcgcctcctcCgaggtgcccggctgctgcac	13	18	0	0	rs114026601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8175868C>T	ENST00000520004.1	-	6	4281	c.4017G>A	c.(4015-4017)tcG>tcA	p.S1339S	SGK223_ENST00000330777.4_Silent_p.S1339S			Q86YV5	SG223_HUMAN		1343							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCGCCTCCTCCGAGGTGCCCG	0.682													C|||	123	0.0245607	0.0885	0.0072	5008	,	,		13730	0.0		0.001	False		,,,				2504	0.0				p.S1339S	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.G4017A						PASS	.	C		318,3830		13,292,1769	64	73	70		4017	-6.6	0.1	8	dbSNP_132	70	1,8381		0,1,4190	no	coding-synonymous	SGK223	NM_001080826.1		13,293,5959	TT,TC,CC		0.0119,7.6663,2.5459		1339/1403	8175868	319,12211	2074	4191	6265	SO:0001819	synonymous_variant	0	exon5			CTCCTCCGAGGTG																												ENST00000520004.1:c.4017G>A	8.37:g.8175868C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	109	68	0.623853	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																			C|0.988;T|0.012	0.012	strong		0.682	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8175868	C	T	8175868	2	4	22	1	0	0	0	0	0	0	0	1	14210	639	23	1		1	SGK223	8	8175868	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1302265	8175868	138188154	4641	9749										
SGK223	157285	hgsc.bcm.edu	37	chr8	8176051	8176051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcaggtcctcctgccgGtagtctctctcccgcagctg	13	16	2	0	rs114220337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8176051G>A	ENST00000520004.1	-	6	4098	c.3834C>T	c.(3832-3834)taC>taT	p.Y1278Y	SGK223_ENST00000330777.4_Silent_p.Y1278Y			Q86YV5	SG223_HUMAN		1282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCTCCTGCCGGTAGTCTCTCT	0.647													G|||	123	0.0245607	0.0885	0.0072	5008	,	,		10988	0.0		0.001	False		,,,				2504	0.0				p.Y1278Y	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											SgK223,caecum,carcinoma,0,2	.	.	2	0			c.C3834T						PASS	.	G		299,3693		13,273,1710	16	21	19		3834	2.7	1	8	dbSNP_132	19	0,8286		0,0,4143	no	coding-synonymous	SGK223	NM_001080826.1		13,273,5853	AA,AG,GG		0.0,7.49,2.4353		1278/1403	8176051	299,11979	1996	4143	6139	SO:0001819	synonymous_variant	0	exon5			CTGCCGGTAGTCT																												ENST00000520004.1:c.3834C>T	8.37:g.8176051G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	44	27	0.613636	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																			G|0.980;A|0.020	0.020	strong		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8176051	G	A	8176051	2	1	22	1	0	0	0	0	0	0	0	1	14210	1256	44	2		2	SGK223	8	8176051	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	183	8176051	138187971	4642	9750										
SGK223	157285	hgsc.bcm.edu	37	chr8	8176540	8176540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcacacgcgccgctcgtaCgcctcgggctccgcctggtg	13	17	0	0	rs116402506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8176540C>T	ENST00000520004.1	-	6	3609	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	SGK223_ENST00000330777.4_Silent_p.A1115A			Q86YV5	SG223_HUMAN		1117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCCGCTCGTACGCCTCGGGCT	0.667													C|||	318	0.0634984	0.2231	0.0274	5008	,	,		10206	0.0		0.003	False		,,,				2504	0.001				p.A1115A	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.G3345A						PASS	.	C		726,3448		70,586,1431	77	86	83		3345	-11	0	8	dbSNP_132	83	13,8401		0,13,4194	no	coding-synonymous	SGK223	NM_001080826.1		70,599,5625	TT,TC,CC		0.1545,17.3934,5.8707		1115/1403	8176540	739,11849	2087	4207	6294	SO:0001819	synonymous_variant	0	exon5			CTCGTACGCCTCG																												ENST00000520004.1:c.3345G>A	8.37:g.8176540C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	26	0.565217	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																			C|0.970;T|0.030	0.030	strong		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8176540	C	T	8176540	2	4	22	1	0	0	0	0	0	0	0	1	14210	523	19	1		1	SGK223	8	8176540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	489	8176540	138187482	4643	9751										
SGK223	157285	hgsc.bcm.edu	37	chr8	8176770	8176770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgttaaagtgcacgggcaCggacgggctgcagtaggaga	17	7	0	1	rs28533138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8176770C>T	ENST00000520004.1	-	6	3379	c.3115G>A	c.(3115-3117)Gtg>Atg	p.V1039M	SGK223_ENST00000330777.4_Missense_Mutation_p.V1039M			Q86YV5	SG223_HUMAN		1041	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCACGGGCACGGACGGGCTG	0.617													C|||	160	0.0319489	0.115	0.0086	5008	,	,		14630	0.0		0.002	False		,,,				2504	0.0				p.V1039M	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.G3115A						PASS	.	C	MET/VAL	347,3795		11,325,1735	41	49	46		3115	5.3	1	8	dbSNP_125	46	14,8330		0,14,4158	yes	missense	SGK223	NM_001080826.1	21	11,339,5893	TT,TC,CC		0.1678,8.3776,2.8912	probably-damaging	1039/1403	8176770	361,12125	2071	4172	6243	SO:0001583	missense	0	exon5			CGGGCACGGACGG																												ENST00000520004.1:c.3115G>A	8.37:g.8176770C>T	ENSP00000428054:p.Val1039Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_001080826	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	58	0.026556776556776556	55	0.11178861788617886	3	0.008287292817679558	0	0.0	0	0.0	C	18.72	3.684827	0.68157	0.083776	0.001678	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.32515	1.45;1.45	5.33	5.33	0.75918	Protein kinase, catalytic domain (1);	0.318706	0.31809	N	0.007027	T	0.00496	0.0016	L	0.27053	0.805	0.46028	D	0.998827	D	0.58268	0.982	P	0.45449	0.481	T	0.00225	-1.1901	10	0.72032	D	0.01	.	14.0559	0.64769	0.0:0.8492:0.1508:0.0	rs28533138	1039	Q86YV5	SG223_HUMAN	M	1039	ENSP00000330930:V1039M;ENSP00000428054:V1039M	ENSP00000330930:V1039M	V	-	1	0	AC068353.1	8214180	1.000000	0.71417	0.959000	0.39883	0.726000	0.41606	4.871000	0.63042	2.670000	0.90874	0.467000	0.42956	GTG	C|0.982;T|0.018	0.018	strong		0.617	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8176770	C	T	8176770	3	4	22	1	0	0	0	0	1	0	0	0	14210	536	19	1	1097	1	SGK223	8	8176770	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	230	8176770	138187252	4644	9752										
SGK223	157285	hgsc.bcm.edu	37	chr8	8234113	8234113	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggatgggtcactgatagcGacaccgttggtccggcagga	15	10	1	1	rs2921005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8234113G>A	ENST00000520004.1	-	3	2070	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SGK223_ENST00000330777.4_Silent_p.V602V			Q86YV5	SG223_HUMAN		604							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CACTGATAGCGACACCGTTGG	0.662													G|||	500	0.0998403	0.1029	0.0519	5008	,	,		16608	0.0744		0.0616	False		,,,				2504	0.1953				p.V602V	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.C1806T						PASS	.	G		428,3548		19,390,1579	34	38	37		1806	-2.9	0	8	dbSNP_101	37	460,7890		10,440,3725	no	coding-synonymous	SGK223	NM_001080826.1		29,830,5304	AA,AG,GG		5.509,10.7646,7.2043		602/1403	8234113	888,11438	1988	4175	6163	SO:0001819	synonymous_variant	0	exon2			GATAGCGACACCG																												ENST00000520004.1:c.1806C>T	8.37:g.8234113G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																			G|0.918;A|0.082	0.082	strong		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8234113	G	A	8234113	2	1	22	1	0	0	0	0	0	0	0	1	14210	1045	37	1		1	SGK223	8	8234113	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57343	8234113	138129909	4645	9753										
SGK223	157285	hgsc.bcm.edu	37	chr8	8234192	8234192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaatgctgctgccgccaGagctcccatcactaaggtca	9	16	2	1	rs4840953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8234192G>C	ENST00000520004.1	-	3	1991	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	SGK223_ENST00000330777.4_Missense_Mutation_p.S576C			Q86YV5	SG223_HUMAN		578							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTGCCGCCAGAGCTCCCATC	0.652													G|||	2276	0.454473	0.3918	0.4323	5008	,	,		16373	0.6409		0.3022	False		,,,				2504	0.5194				p.S576C	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.C1727G						PASS	.	G	CYS/SER	1306,2738		222,862,938	21	25	24		1727	1.9	0	8	dbSNP_111	24	2304,5992		322,1660,2166	yes	missense	SGK223	NM_001080826.1	112	544,2522,3104	CC,CG,GG		27.7724,32.2948,29.2545	benign	576/1403	8234192	3610,8730	2022	4148	6170	SO:0001583	missense	0	exon2			CCGCCAGAGCTCC																												ENST00000520004.1:c.1727C>G	8.37:g.8234192G>C	ENSP00000428054:p.Ser576Cys	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_001080826	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	950	0.434981684981685	201	0.40853658536585363	142	0.39226519337016574	389	0.6800699300699301	218	0.287598944591029	G	10.25	1.297067	0.23650	0.322948	0.277724	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59083	0.29;0.29	4.92	1.93	0.25924	.	2.545670	0.01254	N	0.008962	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.47169	-0.9138	9	0.38643	T	0.18	.	4.1097	0.10053	0.0811:0.2388:0.4682:0.212	rs4840953;rs52796687;rs59893685;rs4840953	576	Q86YV5	SG223_HUMAN	C	576	ENSP00000330930:S576C;ENSP00000428054:S576C	ENSP00000330930:S576C	S	-	2	0	AC068353.1	8271602	0.000000	0.05858	0.016000	0.15963	0.045000	0.14185	0.024000	0.13555	1.199000	0.43173	0.655000	0.94253	TCT	G|0.602;C|0.398	0.398	strong		0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			C	8234192	G	C	8234192	3	2	22	1	0	0	0	0	1	0	0	0	14210	942	33	4	2497	4	SGK223	8	8234192	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79	8234192	138129830	4646	9754										
SGK223	157285	hgsc.bcm.edu	37	chr8	8234218	8234218	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcactaaggtcagccagCggtgacactgggggccctcc					rs4840954|rs373458829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8234218C>T	ENST00000520004.1	-	3	1965	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	SGK223_ENST00000330777.4_Silent_p.P567P			Q86YV5	SG223_HUMAN		569							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTCAGCCAGCGGTGACACTG	0.662													C|||	2272	0.453674	0.3896	0.4323	5008	,	,		16883	0.6409		0.3002	False		,,,				2504	0.5204				p.P567P	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.G1701A						PASS	.	C		1303,2737		237,829,954	24	29	27		1701	-9.8	0	8	dbSNP_127	27	2269,6033		341,1587,2223	no	coding-synonymous	SGK223	NM_001080826.1		578,2416,3177	TT,TC,CC		27.3308,32.2525,28.9418		567/1403	8234218	3572,8770	2020	4151	6171	SO:0001819	synonymous_variant	0	exon2			AGCCAGCGGTGAC																												ENST00000520004.1:c.1701G>A	8.37:g.8234218C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	38	20	0.526316	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																			C|0.631;T|0.369	0.369	strong		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8234218	C	T	8234218	2	4	22	1	0	0	0	0	0	0	0	1	14210	755	27	1		1	SGK223	8	8234218	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26	8234218	138129804	4647	9755	201	2								
SGK223	157285	hgsc.bcm.edu	37	chr8	8234219	8234219	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcactaaggtcagccagcGgtgacactgggggccctcca					rs4840955|rs373458829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8234219G>A	ENST00000520004.1	-	3	1964	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	SGK223_ENST00000330777.4_Missense_Mutation_p.P567L			Q86YV5	SG223_HUMAN		569							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTCAGCCAGCGGTGACACTGG	0.657													G|||	2270	0.453275	0.388	0.4323	5008	,	,		16798	0.6409		0.3002	False		,,,				2504	0.5204				p.P567L	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.C1700T						PASS	.	G	LEU/PRO	1293,2749		229,835,957	24	29	27		1700	4.9	0	8	dbSNP_111	27	2275,6025		338,1599,2213	yes	missense	SGK223	NM_001080826.1	98	567,2434,3170	AA,AG,GG		27.4096,31.9891,28.9094	probably-damaging	567/1403	8234219	3568,8774	2021	4150	6171	SO:0001583	missense	0	exon2			GCCAGCGGTGACA																												ENST00000520004.1:c.1700C>T	8.37:g.8234219G>A	ENSP00000428054:p.Pro567Leu	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	39	21	0.538462	NM_001080826	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	906	0.41483516483516486	193	0.39227642276422764	131	0.36187845303867405	367	0.6416083916083916	215	0.2836411609498681	G	14.12	2.440334	0.43326	0.319891	0.274096	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59906	0.23;0.23	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000003	T	0.00012	0.0000	M	0.62723	1.935	0.32196	P	0.578445	B	0.25312	0.123	B	0.18871	0.023	T	0.48969	-0.8987	9	0.56958	D	0.05	.	7.8195	0.29280	0.0832:0.0:0.7549:0.1619	rs4840955;rs61637687	567	Q86YV5	SG223_HUMAN	L	567	ENSP00000330930:P567L;ENSP00000428054:P567L	ENSP00000330930:P567L	P	-	2	0	AC068353.1	8271629	1.000000	0.71417	0.040000	0.18447	0.002000	0.02628	4.250000	0.58772	2.446000	0.82766	0.563000	0.77884	CCG	G|0.631;A|0.369	0.369	strong		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8234219	G	A	8234219	3	1	22	1	0	0	0	0	1	0	0	0	14210	1116	39	1	2524	1	SGK223	8	8234219	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	8234219	138129803	4648	9756	201	2								
SGK223	157285	hgsc.bcm.edu	37	chr8	8234714	8234714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcaggctgtgtagcctccCgggggtgggccgggggctgg	21	10	1	0	rs3896980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8234714C>T	ENST00000520004.1	-	3	1469	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	SGK223_ENST00000330777.4_Missense_Mutation_p.R402Q			Q86YV5	SG223_HUMAN		404							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTAGCCTCCCGGGGGTGGGC	0.642													C|||	2283	0.455871	0.3903	0.4366	5008	,	,		16058	0.6409		0.3052	False		,,,				2504	0.5225				p.R402Q	GBM(34;731 755 10259 33573 33867)	Atlas-SNP	.											.	.	.	.	0			c.G1205A						PASS	.	C	GLN/ARG	1363,2447		257,849,799	28	32	31		1205	1	0	8	dbSNP_108	31	2494,5700		391,1712,1994	yes	missense	SGK223	NM_001080826.1	43	648,2561,2793	TT,TC,CC		30.4369,35.7743,32.131	probably-damaging	402/1403	8234714	3857,8147	1905	4097	6002	SO:0001583	missense	0	exon2			GCCTCCCGGGGGT																												ENST00000520004.1:c.1205G>A	8.37:g.8234714C>T	ENSP00000428054:p.Arg402Gln	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_001080826	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	961	0.440018315018315	202	0.4105691056910569	144	0.39779005524861877	392	0.6853146853146853	223	0.2941952506596306	C	8.815	0.936192	0.18206	0.357743	0.304369	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57595	0.39;0.39	5.02	1.03	0.20045	.	0.467819	0.18850	N	0.129440	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	P	0.40398	0.716	B	0.22880	0.042	T	0.45862	-0.9232	9	0.35671	T	0.21	.	0.8844	0.01241	0.1558:0.3864:0.1731:0.2847	rs3896980;rs60739349	402	Q86YV5	SG223_HUMAN	Q	402	ENSP00000330930:R402Q;ENSP00000428054:R402Q	ENSP00000330930:R402Q	R	-	2	0	AC068353.1	8272124	0.000000	0.05858	0.016000	0.15963	0.307000	0.27823	0.001000	0.13038	0.644000	0.30656	-0.136000	0.14681	CGG	C|0.612;T|0.388	0.388	strong		0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8234714	C	T	8234714	3	4	22	1	0	0	0	0	1	0	0	0	14210	652	23	1	3019	1	SGK223	8	8234714	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	495	8234714	138129308	4649	9757										
CLDN23	137075	hgsc.bcm.edu	37	chr8	8559917	8559917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcgggccgggatgcggacGccggtggtgatgacgctggg	22	10	0	2	rs61754917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8559917G>A	ENST00000519106.1	+	1	470	c.9G>A	c.(7-9)acG>acA	p.T3T		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	3					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGATGCGGACGCCGGTGGTGA	0.736													G|||	31	0.0061901	0.0219	0.0029	5008	,	,		12030	0.0		0.0	False		,,,				2504	0.0				p.T3T		Atlas-SNP	.											.	CLDN23	5	.	0			c.G9A						PASS	.	G		90,3868		0,90,1889	9	13	11		9	2.2	1	8	dbSNP_129	11	0,8248		0,0,4124	no	coding-synonymous	CLDN23	NM_194284.2		0,90,6013	AA,AG,GG		0.0,2.2739,0.7373		3/293	8559917	90,12116	1979	4124	6103	SO:0001819	synonymous_variant	137075	exon1			GCGGACGCCGGTG	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.9G>A	8.37:g.8559917G>A		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_194284	Q08AJ3	Silent	SNP	ENST00000519106.1	37	CCDS55195.1																																																																																			G|0.995;A|0.005	0.005	strong		0.736	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8559917	G	A	8559917	2	1	22	1	0	0	0	0	0	0	0	1	3484	1074	38	1		1	CLDN23	8	8559917	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	325203	8559917	137804105	4650	9758										
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560151	8560151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccgtgctggtggcgcgGgcactcatggtcacctcgct	14	15	2	0	rs61754959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8560151G>A	ENST00000519106.1	+	1	704	c.243G>A	c.(241-243)cgG>cgA	p.R81R		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	81					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TGGTGGCGCGGGCACTCATGG	0.711													G|||	170	0.0339457	0.087	0.0159	5008	,	,		14724	0.0		0.0358	False		,,,				2504	0.0082				p.R81R		Atlas-SNP	.											.	CLDN23	5	.	0			c.G243A						PASS	.	G		285,4007		7,271,1868	12	17	15		243	1.8	0.9	8	dbSNP_129	15	318,8120		6,306,3907	no	coding-synonymous	CLDN23	NM_194284.2		13,577,5775	AA,AG,GG		3.7687,6.6403,4.7368		81/293	8560151	603,12127	2146	4219	6365	SO:0001819	synonymous_variant	137075	exon1			GGCGCGGGCACTC	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.243G>A	8.37:g.8560151G>A		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	22	18	0.818182	NM_194284	Q08AJ3	Silent	SNP	ENST00000519106.1	37	CCDS55195.1																																																																																			G|0.968;A|0.032	0.032	strong		0.711	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560151	G	A	8560151	2	1	22	1	0	0	0	0	0	0	0	1	3484	1219	43	2		2	CLDN23	8	8560151	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	234	8560151	137803871	4651	9759										
ERI1	90459	hgsc.bcm.edu	37	chr8	8869129	8869129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgctgaaagagagcaattTtgctgacagttattatgact	10	5	0	4	rs112570397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:8869129T>G	ENST00000523898.1	+	4	1044	c.365T>G	c.(364-366)tTt>tGt	p.F122C	ERI1_ENST00000519292.1_Missense_Mutation_p.F122C|ERI1_ENST00000250263.7_Missense_Mutation_p.F122C			Q8IV48	ERI1_HUMAN	exoribonuclease 1	122					gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						GAGAGCAATTTTGCTGACAGT	0.348													G|||	41	0.0081869	0.0303	0.0014	5008	,	,		17758	0.0		0.0	False		,,,				2504	0.0				p.F122C		Atlas-SNP	.											.	ERI1	20	.	0			c.T365G						PASS	.	G	CYS/PHE	121,4285	813.8+/-416.2	1,119,2083	82	82	82		365	1.7	0	8	dbSNP_132	82	0,8600		0,0,4300	yes	missense	ERI1	NM_153332.3	205	1,119,6383	GG,GT,TT		0.0,2.7463,0.9303	benign	122/350	8869129	121,12885	2203	4300	6503	SO:0001583	missense	90459	exon3			GCAATTTTGCTGA	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.365T>G	8.37:g.8869129T>G	ENSP00000429615:p.Phe122Cys	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	75	45	0.6	NM_153332	A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	CCDS5972.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	G	10.23	1.293512	0.23564	0.027463	0.0	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.43688	0.94;0.94;0.94	5.79	1.69	0.24217	.	1.091090	0.06714	N	0.773725	T	0.09992	0.0245	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	10	0.46703	T	0.11	-26.669	3.9327	0.09293	0.1405:0.3665:0.3736:0.1193	.	122	Q8IV48	ERI1_HUMAN	C	122	ENSP00000429615:F122C;ENSP00000250263:F122C;ENSP00000430190:F122C	ENSP00000250263:F122C	F	+	2	0	ERI1	8906539	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.253000	0.08794	0.078000	0.16900	-0.231000	0.12243	TTT	T|0.991;G|0.009	0.009	strong		0.348	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		G	8869129	T	G	8869129	3	3	22	1	0	0	0	0	1	0	0	0	5227	1841	64	5	375	5	ERI1	8	8869129	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	308978	8869129	137494893	4652	9760										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10464465	10464465	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccactgcctcagtgggggcGagacttccgagtgcctggtc					rs112520779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10464465G>A	ENST00000382483.3	-	4	7366	c.7143C>T	c.(7141-7143)ctC>ctT	p.L2381L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2461					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGTGGGGGCGAGACTTCCGA	0.547													G|||	14	0.00279553	0.0106	0.0	5008	,	,		17836	0.0		0.0	False		,,,				2504	0.0				p.L2381L		Atlas-SNP	.											RP1L1,NS,carcinoma,-2,1	RP1L1	453	1	0			c.C7143T						PASS	.	G		26,3806		0,26,1890	109	115	113		7143	-6.4	0	8	dbSNP_132	113	0,8232		0,0,4116	no	coding-synonymous	RP1L1	NM_178857.5		0,26,6006	AA,AG,GG		0.0,0.6785,0.2155		2381/2401	10464465	26,12038	1916	4116	6032	SO:0001819	synonymous_variant	94137	exon4			GGGGGCGAGACTT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7143C>T	8.37:g.10464465G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	43	0.661538	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			A|0.002;G|0.998;T|0.000	0.002	strong		0.547	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10464465	G	A	10464465	2	1	22	1	0	0	0	0	0	0	0	1	13533	1045	37	1		1	RP1L1	8	10464465	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1595336	10464465	135899557	4653	9761	202	2								
RP1L1	94137	hgsc.bcm.edu	37	chr8	10464474	10464474	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgggggcgagacttccGagtgcctggtcctcttgtag					rs113172380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10464474G>T	ENST00000382483.3	-	4	7357	c.7134C>A	c.(7132-7134)ctC>ctA	p.L2378L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2458					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGAGACTTCCGAGTGCCTGGT	0.532													G|||	15	0.00299521	0.0113	0.0	5008	,	,		17727	0.0		0.0	False		,,,				2504	0.0				p.L2378L		Atlas-SNP	.											RP1L1,NS,carcinoma,-2,1	RP1L1	453	1	0			c.C7134A						PASS	.	G		27,3811		0,27,1892	110	114	113		7134	-7.2	0	8	dbSNP_132	113	0,8234		0,0,4117	no	coding-synonymous	RP1L1	NM_178857.5		0,27,6009	TT,TG,GG		0.0,0.7035,0.2237		2378/2401	10464474	27,12045	1919	4117	6036	SO:0001819	synonymous_variant	94137	exon4			ACTTCCGAGTGCC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7134C>A	8.37:g.10464474G>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	68	46	0.676471	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			G|0.996;T|0.004	0.004	strong		0.532	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10464474	G	T	10464474	2	4	22	1	0	0	0	0	0	0	0	1	13533	1045	37	4		4	RP1L1	8	10464474	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9	10464474	135899548	4654	9762	202	2								
RP1L1	94137	hgsc.bcm.edu	37	chr8	10465942	10465942	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcctctggggtctctacaTcttctgactctggctgggcc	11	14	5	1	rs28446662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10465942T>A	ENST00000382483.3	-	4	5889	c.5666A>T	c.(5665-5667)gAt>gTt	p.D1889V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1969					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTCTCTACATCTTCTGACTC	0.602													t|||	1189	0.23742	0.1679	0.3386	5008	,	,		16217	0.3929		0.2147	False		,,,				2504	0.1227				p.D1889V		Atlas-SNP	.											.	RP1L1	453	.	0			c.A5666T						PASS	.	T	VAL/ASP	726,3178		68,590,1294	158	174	169		5666	-2.8	0	8	dbSNP_125	169	1669,6635		168,1333,2651	no	missense	RP1L1	NM_178857.5	152	236,1923,3945	AA,AT,TT		20.0987,18.5963,19.6183	benign	1889/2401	10465942	2395,9813	1952	4152	6104	SO:0001583	missense	94137	exon4			TCTACATCTTCTG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5666A>T	8.37:g.10465942T>A	ENSP00000371923:p.Asp1889Val	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	160	81	0.50625	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	566	0.2591575091575092	62	0.12601626016260162	102	0.281767955801105	238	0.4160839160839161	164	0.21635883905013192	t	3.686	-0.064495	0.07273	0.185963	0.200987	ENSG00000183638	ENST00000382483	T	0.07688	3.17	1.4	-2.8	0.05823	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.12013	0.005	B	0.11329	0.006	T	0.46105	-0.9215	8	0.30078	T	0.28	.	4.5421	0.12064	0.0:0.1945:0.191:0.6145	rs28446662	1889	A6NKC6	.	V	1889	ENSP00000371923:D1889V	ENSP00000371923:D1889V	D	-	2	0	RP1L1	10503352	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.203000	0.03019	-0.837000	0.04223	-0.375000	0.07067	GAT	T|0.764;A|0.236	0.236	strong		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465942	T	A	10465942	3	1	22	1	0	0	0	0	1	0	0	0	13533	1435	50	5	1540	5	RP1L1	8	10465942	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1468	10465942	135898080	4655	9763										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467124	10467124	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgcagccccctgggtgGgttgggcctgcgtgtgctct					rs4841399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10467124G>C	ENST00000382483.3	-	4	4707	c.4484C>G	c.(4483-4485)cCc>cGc	p.P1495R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1575					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTGGGTGGGTTGGGCCTG	0.642													G|||	1411	0.281749	0.2511	0.353	5008	,	,		16131	0.3938		0.2555	False		,,,				2504	0.184				p.P1495R		Atlas-SNP	.											RP1L1,NS,carcinoma,0,1	RP1L1	453	1	0			c.C4484G						PASS	.	G	ARG/PRO	982,2946		128,726,1110	33	38	36		4484	-5.1	0	8	dbSNP_111	36	2003,6307		241,1521,2393	yes	missense	RP1L1	NM_178857.5	103	369,2247,3503	CC,CG,GG		24.1035,25.0,24.3912	possibly-damaging	1495/2401	10467124	2985,9253	1964	4155	6119	SO:0001583	missense	94137	exon4			TGGGTGGGTTGGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4484C>G	8.37:g.10467124G>C	ENSP00000371923:p.Pro1495Arg	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	643	0.2944139194139194	100	0.2032520325203252	107	0.2955801104972376	242	0.4230769230769231	194	0.2559366754617414	G	9.308	1.054817	0.19907	0.25	0.241035	ENSG00000183638	ENST00000382483	T	0.04156	3.69	4.69	-5.06	0.02946	.	2.449500	0.02245	N	0.066177	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.45126	0.851	B	0.39935	0.314	T	0.37549	-0.9701	9	0.56958	D	0.05	3.2668	1.9854	0.03435	0.3306:0.2097:0.3541:0.1056	rs4841399	1495	A6NKC6	.	R	1495	ENSP00000371923:P1495R	ENSP00000371923:P1495R	P	-	2	0	RP1L1	10504534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.416000	0.02467	-1.450000	0.01936	-0.339000	0.08088	CCC	G|0.722;C|0.278	0.278	strong		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10467124	G	C	10467124	3	2	22	1	0	0	0	0	1	0	0	0	13533	1232	43	4	2722	4	RP1L1	8	10467124	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1182	10467124	135896898	4656	9764	203	2								
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467130	10467130	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccccctgggtgggttggGcctgcgtgtgctcttggccc					rs138261433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10467130G>A	ENST00000382483.3	-	4	4701	c.4478C>T	c.(4477-4479)gCc>gTc	p.A1493V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1573					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTGGGTTGGGCCTGCGTGTG	0.647													G|||	22	0.00439297	0.0159	0.0014	5008	,	,		16042	0.0		0.0	False		,,,				2504	0.0				p.A1493V		Atlas-SNP	.											.	RP1L1	453	.	0			c.C4478T						PASS	.	G	VAL/ALA	69,3877		0,69,1904	33	38	37		4478	-5.1	0	8	dbSNP_134	37	2,8318		0,2,4158	yes	missense	RP1L1	NM_178857.5	64	0,71,6062	AA,AG,GG		0.024,1.7486,0.5788	benign	1493/2401	10467130	71,12195	1973	4160	6133	SO:0001583	missense	94137	exon4			GGTTGGGCCTGCG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4478C>T	8.37:g.10467130G>A	ENSP00000371923:p.Ala1493Val	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	3.081	-0.189007	0.06299	0.017486	2.4E-4	ENSG00000183638	ENST00000382483	T	0.03860	3.78	4.78	-5.14	0.02875	.	1.690280	0.03804	N	0.264929	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.26483	0.15	B	0.19946	0.027	T	0.41680	-0.9495	10	0.09338	T	0.73	-0.4613	4.2452	0.10669	0.4089:0.0:0.2703:0.3208	.	1493	A6NKC6	.	V	1493	ENSP00000371923:A1493V	ENSP00000371923:A1493V	A	-	2	0	RP1L1	10504540	0.017000	0.18338	0.000000	0.03702	0.013000	0.08279	0.131000	0.15870	-1.100000	0.03030	0.561000	0.74099	GCC	G|0.998;A|0.002	0.002	strong		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10467130	G	A	10467130	3	1	22	1	0	0	0	0	1	0	0	0	13533	1203	42	2	2728	2	RP1L1	8	10467130	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	10467130	135896892	4657	9765	203	2								
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467647	10467647	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttagtttcctctaactGcaccgcctcttcttgcagcc	6	14	3	0	rs200373757		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10467647G>C	ENST00000382483.3	-	4	4184	c.3961C>G	c.(3961-3963)Cag>Gag	p.Q1321E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1337	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		tcctctaactgcaccgcctct	0.468																																					p.Q1321E		Atlas-SNP	.											RP1L1,NS,haematopoietic_neoplasm,0,1	RP1L1	453	1	0			c.C3961G						PASS	.	G	GLU/GLN	169,3739		2,165,1787	136	135	135		3961	-0.1	0	8	dbSNP_132	135	336,7932		0,336,3798	yes	missense	RP1L1	NM_178857.5	29	2,501,5585	CC,CG,GG		4.0639,4.3245,4.1475	benign	1321/2401	10467647	505,11671	1954	4134	6088	SO:0001583	missense	94137	exon4			CTAACTGCACCGC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3961C>G	8.37:g.10467647G>C	ENSP00000371923:p.Gln1321Glu	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	188	12	0.0638298	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	74	0.03388278388278388	30	0.06097560975609756	12	0.03314917127071823	2	0.0034965034965034965	30	0.0395778364116095	G	0.013	-1.632212	0.00806	0.043245	0.040639	ENSG00000183638	ENST00000382483	T	0.04758	3.56	2.13	-0.127	0.13510	.	1.785720	0.03751	N	0.256541	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.45396	-0.9264	10	0.39692	T	0.17	-2.9969	0.6548	0.00832	0.1593:0.191:0.288:0.3617	.	1321	A6NKC6	.	E	1321	ENSP00000371923:Q1321E	ENSP00000371923:Q1321E	Q	-	1	0	RP1L1	10505057	0.000000	0.05858	0.016000	0.15963	0.072000	0.16883	-0.930000	0.03972	1.010000	0.39314	0.313000	0.20887	CAG	G|0.966;C|0.034	0.034	strong		0.468	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10467647	G	C	10467647	3	2	22	1	0	0	0	0	1	0	0	0	13533	1328	46	4	3245	4	RP1L1	8	10467647	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	517	10467647	135896375	4658	9766										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10469817	10469817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccgtggcctgctcggtGccctgtccttgcgtctctgc	12	17	1	0	rs6996950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10469817G>A	ENST00000382483.3	-	4	2014	c.1791C>T	c.(1789-1791)ggC>ggT	p.G597G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	597					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGCTCGGTGCCCTGTCCTT	0.637													A|||	3993	0.797324	0.7988	0.8372	5008	,	,		16845	0.6101		0.8757	False		,,,				2504	0.8793				p.G597G		Atlas-SNP	.											.	RP1L1	453	.	0			c.C1791T						PASS	.	A		3381,761		1375,631,65	59	68	65		1791	-2.2	0	8	dbSNP_116	65	7244,1170		3127,990,90	yes	coding-synonymous	RP1L1	NM_178857.5		4502,1621,155	AA,AG,GG		13.9054,18.3728,15.3791		597/2401	10469817	10625,1931	2071	4207	6278	SO:0001819	synonymous_variant	94137	exon4			CTCGGTGCCCTGT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1791C>T	8.37:g.10469817G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	88	35	0.397727	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			G|0.198;A|0.799	0.799	strong		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10469817	G	A	10469817	2	1	22	1	0	0	0	0	0	0	0	1	13533	1306	46	2		2	RP1L1	8	10469817	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2170	10469817	135894205	4659	9767										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470130	10470130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggctccctccagctttcCgctcagcccctatctgggca	8	19	2	0	rs79401306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10470130C>T	ENST00000382483.3	-	4	1701	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	493					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCAGCTTTCCGCTCAGCCCC	0.721													C|||	103	0.0205671	0.0764	0.0029	5008	,	,		15146	0.0		0.0	False		,,,				2504	0.0				p.R493Q		Atlas-SNP	.											.	RP1L1	453	.	0			c.G1478A						PASS	.	C	GLN/ARG	205,3593		6,193,1700	26	30	29		1478	-2.6	0	8	dbSNP_131	29	3,8241		0,3,4119	yes	missense	RP1L1	NM_178857.5	43	6,196,5819	TT,TC,CC		0.0364,5.3976,1.7273	possibly-damaging	493/2401	10470130	208,11834	1899	4122	6021	SO:0001583	missense	94137	exon4			GCTTTCCGCTCAG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1478G>A	8.37:g.10470130C>T	ENSP00000371923:p.Arg493Gln	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	33	11	0.333333	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	44	0.020146520146520148	44	0.08943089430894309	0	0.0	0	0.0	0	0.0	C	7.544	0.661253	0.14645	0.053976	3.64E-4	ENSG00000183638	ENST00000382483	T	0.04083	3.71	4.06	-2.57	0.06248	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.45190	-0.9278	9	0.41790	T	0.15	14.544	4.0305	0.09706	0.1672:0.3134:0.0:0.5194	.	493	A6NKC6	.	Q	493	ENSP00000371923:R493Q	ENSP00000371923:R493Q	R	-	2	0	RP1L1	10507540	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.619000	0.05572	-0.838000	0.04218	0.561000	0.74099	CGG	C|0.987;T|0.013	0.013	strong		0.721	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10470130	C	T	10470130	3	4	22	1	0	0	0	0	1	0	0	0	13533	652	23	1	5728	1	RP1L1	8	10470130	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	313	10470130	135893892	4660	9768										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470764	10470764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagggcccaccggggggtTgctaggaccaggcctttctg	16	12	1	0	rs75814156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10470764T>G	ENST00000382483.3	-	4	1067	c.844A>C	c.(844-846)Aac>Cac	p.N282H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	282					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCGGGGGGTTGCTAGGACCA	0.672													T|||	113	0.0225639	0.084	0.0029	5008	,	,		15048	0.0		0.0	False		,,,				2504	0.0				p.N282H		Atlas-SNP	.											RP1L1,NS,carcinoma,+2,1	RP1L1	453	1	0			c.A844C						PASS	.	T	HIS/ASN	236,3690		8,220,1735	55	62	60		844	0.6	0	8	dbSNP_131	60	2,8288		0,2,4143	yes	missense	RP1L1	NM_178857.5	68	8,222,5878	GG,GT,TT		0.0241,6.0112,1.9483	probably-damaging	282/2401	10470764	238,11978	1963	4145	6108	SO:0001583	missense	94137	exon4			GGGGGTTGCTAGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.844A>C	8.37:g.10470764T>G	ENSP00000371923:p.Asn282His	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	40	13	0.325	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	49	0.022435897435897436	49	0.09959349593495935	0	0.0	0	0.0	0	0.0	T	13.74	2.326457	0.41197	0.060112	2.41E-4	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.67	0.552	0.17230	.	0.788418	0.10319	N	0.688987	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	D	0.58970	0.984	P	0.46796	0.527	T	0.49960	-0.8883	10	0.59425	D	0.04	-5.163	5.688	0.17813	0.0:0.5952:0.1546:0.2502	.	282	A6NKC6	.	H	282	ENSP00000371923:N282H	ENSP00000371923:N282H	N	-	1	0	RP1L1	10508174	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.263000	0.18478	-0.050000	0.13356	-0.643000	0.03959	AAC	T|0.984;G|0.016	0.016	strong		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			G	10470764	T	G	10470764	3	3	22	1	0	0	0	0	1	0	0	0	13533	1812	63	5	6362	5	RP1L1	8	10470764	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	634	10470764	135893258	4661	9769										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470794	10470794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctttctggcagccgtgGcgtgctgcctggcggagacc	16	13	1	1	rs77833234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10470794G>C	ENST00000382483.3	-	4	1037	c.814C>G	c.(814-816)Cca>Gca	p.P272A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	272					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCAGCCGTGGCGTGCTGCCT	0.647													G|||	19	0.00379393	0.0144	0.0	5008	,	,		15506	0.0		0.0	False		,,,				2504	0.0				p.P272A		Atlas-SNP	.											.	RP1L1	453	.	0			c.C814G						PASS	.	G	ALA/PRO	38,3946		0,38,1954	53	59	57		814	0.2	0	8	dbSNP_131	57	2,8342		0,2,4170	no	missense	RP1L1	NM_178857.5	27	0,40,6124	CC,CG,GG		0.024,0.9538,0.3245	probably-damaging	272/2401	10470794	40,12288	1992	4172	6164	SO:0001583	missense	94137	exon4			GCCGTGGCGTGCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.814C>G	8.37:g.10470794G>C	ENSP00000371923:p.Pro272Ala	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	21	9	0.428571	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	20	0.009157509157509158	13	0.026422764227642278	2	0.0055248618784530384	2	0.0034965034965034965	3	0.00395778364116095	G	1.225	-0.625730	0.03610	0.009538	2.4E-4	ENSG00000183638	ENST00000382483	T	0.04194	3.68	5.33	0.147	0.14838	.	1.942830	0.03465	N	0.212853	T	0.01287	0.0042	L	0.38175	1.15	0.09310	N	1	B	0.22683	0.073	B	0.20767	0.031	T	0.43048	-0.9415	10	0.21014	T	0.42	-0.1152	0.8756	0.01223	0.251:0.3733:0.1891:0.1866	.	272	A6NKC6	.	A	272	ENSP00000371923:P272A	ENSP00000371923:P272A	P	-	1	0	RP1L1	10508204	0.087000	0.21565	0.000000	0.03702	0.005000	0.04900	1.861000	0.39438	0.162000	0.19483	-0.293000	0.09583	CCA	G|0.993;C|0.007	0.007	strong		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10470794	G	C	10470794	3	2	22	1	0	0	0	0	1	0	0	0	13533	1203	42	4	6392	4	RP1L1	8	10470794	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30	10470794	135893228	4662	9770										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10480377	10480377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggcctggtccactggggGtcttggggggcttcttatca	16	11	3	0	rs6601495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10480377G>C	ENST00000382483.3	-	2	558	c.335C>G	c.(334-336)aCc>aGc	p.T112S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	112	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		T -> S (in dbSNP:rs6601495).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCACTGGGGGTCTTGGGGGG	0.657													g|||	1058	0.211262	0.7731	0.0418	5008	,	,		14667	0.001		0.006	False		,,,				2504	0.0				p.T112S		Atlas-SNP	.											.	RP1L1	453	.	0			c.C335G						PASS	.		SER/THR	2202,1650		628,946,352	15	17	16		335	3.9	0.5	8	dbSNP_116	16	34,8210		0,34,4088	yes	missense	RP1L1	NM_178857.5	58	628,980,4440	CC,CG,GG		0.4124,42.8349,18.4854	probably-damaging	112/2401	10480377	2236,9860	1926	4122	6048	SO:0001583	missense	94137	exon2			CTGGGGGTCTTGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.335C>G	8.37:g.10480377G>C	ENSP00000371923:p.Thr112Ser	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	376	0.17216117216117216	360	0.7317073170731707	14	0.03867403314917127	0	0.0	2	0.002638522427440633	g	10.27	1.302651	0.23736	0.571651	0.004124	ENSG00000183638	ENST00000382483	D	0.86497	-2.13	4.74	3.86	0.44501	.	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.37353	P	0.08909199999999995	P	0.34546	0.456	B	0.31614	0.133	T	0.48670	-0.9015	8	0.66056	D	0.02	-8.4292	12.1318	0.53946	0.0831:0.0:0.9169:0.0	rs6601495;rs59306823;rs6601495	112	A6NKC6	.	S	112	ENSP00000371923:T112S	ENSP00000371923:T112S	T	-	2	0	RP1L1	10517787	1.000000	0.71417	0.476000	0.27291	0.223000	0.24884	5.164000	0.64954	1.236000	0.43740	0.550000	0.68814	ACC	G|0.841;C|0.159	0.159	strong		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10480377	G	C	10480377	3	2	22	1	0	0	0	0	1	0	0	0	13533	1261	44	4	6879	4	RP1L1	8	10480377	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9583	10480377	135883645	4663	9771										
C8orf74	203076	hgsc.bcm.edu	37	chr8	10555263	10555263	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtatgtcctgggccaggaCcagcaggtcgacctgaccgt	13	13	0	1	rs147047803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10555263C>G	ENST00000304519.5	+	3	425	c.396C>G	c.(394-396)gaC>gaG	p.D132E	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	132										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGGGCCAGGACCAGCAGGTCG	0.622													C|||	11	0.00219649	0.0083	0.0	5008	,	,		17486	0.0		0.0	False		,,,				2504	0.0				p.D132E		Atlas-SNP	.											.	C8orf74	28	.	0			c.C396G						PASS	.	C	GLU/ASP	33,4233		0,33,2100	163	169	167		396	-3.2	0.2	8	dbSNP_134	167	0,8450		0,0,4225	yes	missense	C8orf74	NM_001040032.1	45	0,33,6325	GG,GC,CC		0.0,0.7736,0.2595	benign	132/295	10555263	33,12683	2133	4225	6358	SO:0001583	missense	203076	exon3			CCAGGACCAGCAG	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.396C>G	8.37:g.10555263C>G	ENSP00000307129:p.Asp132Glu	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_001040032	A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	CCDS47800.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	0.118	-1.129786	0.01756	0.007736	0.0	ENSG00000171060	ENST00000304519	T	0.28666	1.6	5.2	-3.25	0.05079	.	0.639609	0.15360	N	0.266446	T	0.08133	0.0203	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.22695	-1.0209	10	0.15499	T	0.54	.	2.1908	0.03898	0.1217:0.2888:0.3579:0.2316	.	132	Q6P047	CH074_HUMAN	E	132	ENSP00000307129:D132E	ENSP00000307129:D132E	D	+	3	2	C8orf74	10592673	0.006000	0.16342	0.207000	0.23584	0.043000	0.13939	-1.025000	0.03600	-0.299000	0.08909	-1.334000	0.01262	GAC	C|0.997;G|0.003	0.003	strong		0.622	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		G	10555263	C	G	10555263	3	3	22	1	0	0	0	0	1	0	0	0	2436	506	18	4	406	4	C8orf74	8	10555263	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74886	10555263	135808759	4664	9772										
C8orf74	203076	hgsc.bcm.edu	37	chr8	10557760	10557760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggagttggagagcctcAtctgccaggcagtccacacc	11	14	2	1	rs57041981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:10557760A>G	ENST00000304519.5	+	4	693	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	222			I -> V (in dbSNP:rs57041981).							central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GGAGAGCCTCATCTGCCAGGC	0.592													G|||	1241	0.247804	0.7247	0.111	5008	,	,		14931	0.123		0.0099	False		,,,				2504	0.0736				p.I222V		Atlas-SNP	.											.	C8orf74	28	.	0			c.A664G						PASS	.	G	VAL/ILE	2298,1754		663,972,391	64	71	69		664	-1.6	0	8	dbSNP_129	69	56,8294		0,56,4119	yes	missense	C8orf74	NM_001040032.1	29	663,1028,4510	GG,GA,AA		0.6707,43.2873,18.9808	benign	222/295	10557760	2354,10048	2026	4175	6201	SO:0001583	missense	203076	exon4			AGCCTCATCTGCC	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.664A>G	8.37:g.10557760A>G	ENSP00000307129:p.Ile222Val	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	65	26	0.4	NM_001040032	A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	CCDS47800.1	476	0.21794871794871795	358	0.7276422764227642	28	0.07734806629834254	86	0.15034965034965034	4	0.005277044854881266	G	0.021	-1.419368	0.01136	0.567127	0.006707	ENSG00000171060	ENST00000304519	T	0.28255	1.62	5.01	-1.59	0.08453	.	0.452401	0.20972	N	0.082365	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39418	-0.9615	9	0.05620	T	0.96	.	10.9154	0.47133	0.4434:0.0:0.5566:0.0	rs57041981;rs61748919	222	Q6P047	CH074_HUMAN	V	222	ENSP00000307129:I222V	ENSP00000307129:I222V	I	+	1	0	C8orf74	10595170	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.083000	0.11286	-0.786000	0.04516	-1.163000	0.01768	ATC	A|0.822;G|0.178	0.178	strong		0.592	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		G	10557760	A	G	10557760	3	3	22	1	0	0	0	0	1	0	0	0	2436	217	8	2	678	2	C8orf74	8	10557760	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2497	10557760	135806262	4665	9773										
MTMR9	66036	hgsc.bcm.edu	37	chr8	11142529	11142529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcctcccggcaggacaaTacggaggagctgtggctcct	13	13	0	0	rs61752023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11142529T>C	ENST00000221086.3	+	1	605	c.132T>C	c.(130-132)aaT>aaC	p.N44N	MTMR9_ENST00000526292.1_5'Flank	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	44						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGCAGGACAATACGGAGGAGC	0.657													C|||	214	0.0427316	0.1573	0.0072	5008	,	,		12961	0.0		0.001	False		,,,				2504	0.0				p.N44N		Atlas-SNP	.											.	MTMR9	58	.	0			c.T132C						PASS	.	C		609,3797	765.8+/-413.4	36,537,1630	36	38	37		132	3	1	8	dbSNP_129	37	2,8598	817.5+/-406.9	0,2,4298	no	coding-synonymous	MTMR9	NM_015458.3		36,539,5928	CC,CT,TT		0.0233,13.8221,4.6978		44/550	11142529	611,12395	2203	4300	6503	SO:0001819	synonymous_variant	66036	exon1			GGACAATACGGAG	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.132T>C	8.37:g.11142529T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	101	53	0.524752	NM_015458	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	CCDS5979.1																																																																																			T|0.958;C|0.042	0.042	strong		0.657	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		C	11142529	T	C	11142529	2	2	22	1	0	0	0	0	0	0	0	1	9950	1403	49	2		2	MTMR9	8	11142529	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	584769	11142529	135221493	4666	9774										
GATA4	2626	hgsc.bcm.edu	37	chr8	11614559	11614559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacggagcctggcctgtcAtctcactacgggcacagcag	12	13	2	1	rs112435835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11614559A>G	ENST00000335135.4	+	6	1671	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S	GATA4_ENST00000528712.1_Silent_p.S165S|GATA4_ENST00000532059.1_Silent_p.S372S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	371					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|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 cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTGGCCTGTCATCTCACTACG	0.662													A|||	51	0.0101837	0.0371	0.0029	5008	,	,		20298	0.0		0.0	False		,,,				2504	0.0				p.S371S		Atlas-SNP	.											.	GATA4	29	.	0			c.A1113G						PASS	.	A		94,4312	76.8+/-115.0	2,90,2111	90	70	76		1113	-11.7	0	8	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous	GATA4	NM_002052.3		2,90,6411	GG,GA,AA		0.0,2.1335,0.7227		371/443	11614559	94,12912	2203	4300	6503	SO:0001819	synonymous_variant	2626	exon6			CCTGTCATCTCAC	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1113A>G	8.37:g.11614559A>G		Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	259	132	0.509652	NM_002052	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	CCDS5983.1																																																																																			A|0.993;G|0.007	0.007	strong		0.662	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		G	11614559	A	G	11614559	2	3	22	1	0	0	0	0	0	0	0	1	6256	204	8	2		2	GATA4	8	11614559	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	472030	11614559	134749463	4667	9775										
NEIL2	252969	hgsc.bcm.edu	37	chr8	11640853	11640853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagccttagaagctctaggCcaggctcagcctgtctgcta	10	13	3	1	rs112549959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11640853C>T	ENST00000284503.6	+	4	1232	c.633C>T	c.(631-633)ggC>ggT	p.G211G	NEIL2_ENST00000436750.3_Silent_p.G211G|NEIL2_ENST00000455213.2_Silent_p.G211G|NEIL2_ENST00000403422.3_Silent_p.G150G|NEIL2_ENST00000528323.1_Silent_p.G95G	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	211					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AAGCTCTAGGCCAGGCTCAGC	0.517								Base excision repair (BER), DNA glycosylases					C|||	22	0.00439297	0.0159	0.0014	5008	,	,		23388	0.0		0.0	False		,,,				2504	0.0				p.G211G		Atlas-SNP	.											.	NEIL2	14	.	0			c.C633T						PASS	.	C	,,,	45,4361	48.2+/-83.0	0,45,2158	119	104	109		633,450,285,633	-3.7	0.1	8	dbSNP_132	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEIL2	NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2	,,,	0,45,6458	TT,TC,CC		0.0,1.0213,0.346	,,,	211/333,150/272,95/217,211/333	11640853	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	252969	exon4			TCTAGGCCAGGCT	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.633C>T	8.37:g.11640853C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	207	97	0.468599	NM_001135746	B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	CCDS5984.1																																																																																			C|0.996;T|0.004	0.004	strong		0.517	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		T	11640853	C	T	11640853	2	4	22	1	0	0	0	0	0	0	0	1	10319	726	26	2		2	NEIL2	8	11640853	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26294	11640853	134723169	4668	9776										
NEIL2	252969	hgsc.bcm.edu	37	chr8	11643731	11643731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctcacctggtggtgcccGcagtgccagccccagttgtc	13	15	1	0	rs113110839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11643731G>A	ENST00000284503.6	+	5	1547	c.948G>A	c.(946-948)ccG>ccA	p.P316P	NEIL2_ENST00000436750.3_Silent_p.P316P|NEIL2_ENST00000455213.2_Silent_p.P316P|NEIL2_ENST00000403422.3_Silent_p.P255P|NEIL2_ENST00000528323.1_Silent_p.P200P	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	316					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGTGGTGCCCGCAGTGCCAGC	0.612								Base excision repair (BER), DNA glycosylases					G|||	23	0.00459265	0.0166	0.0014	5008	,	,		17965	0.0		0.0	False		,,,				2504	0.0				p.P316P		Atlas-SNP	.											.	NEIL2	14	.	0			c.G948A						PASS	.	G	,,,	42,4362		0,42,2160	23	21	22		948,765,600,948	-10.7	0.2	8	dbSNP_132	22	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEIL2	NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2	,,,	0,42,6459	AA,AG,GG		0.0,0.9537,0.323	,,,	316/333,255/272,200/217,316/333	11643731	42,12960	2202	4299	6501	SO:0001819	synonymous_variant	252969	exon5			GTGCCCGCAGTGC	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.948G>A	8.37:g.11643731G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	235	126	0.53617	NM_001135746	B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	CCDS5984.1																																																																																			G|0.996;A|0.004	0.004	strong		0.612	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		A	11643731	G	A	11643731	2	1	22	1	0	0	0	0	0	0	0	1	10319	1074	38	1		1	NEIL2	8	11643731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2878	11643731	134720291	4669	9777										
CTSB	1508	hgsc.bcm.edu	37	chr8	11710174	11710174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatagcctcttcaagtagcTcatgtccacgttgtagaagt	8	10	3	1	rs1803250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11710174T>C	ENST00000353047.6	-	3	410	c.157A>G	c.(157-159)Agc>Ggc	p.S53G	CTSB_ENST00000453527.2_Missense_Mutation_p.S53G|CTSB_ENST00000345125.3_Missense_Mutation_p.S53G|CTSB_ENST00000531089.1_Missense_Mutation_p.S53G|CTSB_ENST00000533455.1_Missense_Mutation_p.S53G|CTSB_ENST00000434271.1_Missense_Mutation_p.S53G|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000415599.2_Missense_Mutation_p.S53G|CTSB_ENST00000534510.1_Missense_Mutation_p.S53G|CTSB_ENST00000530640.2_Missense_Mutation_p.S53G	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	53			S -> G (in dbSNP:rs1803250). {ECO:0000269|PubMed:15489334}.		cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TTCAAGTAGCTCATGTCCACG	0.612													T|||	288	0.057508	0.0325	0.0879	5008	,	,		17881	0.0		0.1511	False		,,,				2504	0.0327				p.S53G		Atlas-SNP	.											.	CTSB	24	.	0			c.A157G						PASS	.	T	GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER	219,4187	131.0+/-167.6	6,207,1990	139	106	117		157,157,157,157,157	5.8	1	8	dbSNP_89	117	1196,7404	242.5+/-272.5	87,1022,3191	yes	missense,missense,missense,missense,missense	CTSB	NM_001908.3,NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2	56,56,56,56,56	93,1229,5181	CC,CT,TT		13.907,4.9705,10.8796	benign,benign,benign,benign,benign	53/340,53/340,53/340,53/340,53/340	11710174	1415,11591	2203	4300	6503	SO:0001583	missense	1508	exon5			AGTAGCTCATGTC	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.157A>G	8.37:g.11710174T>C	ENSP00000345672:p.Ser53Gly	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_147780	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	176	0.08058608058608059	21	0.042682926829268296	36	0.09944751381215469	0	0.0	119	0.15699208443271767	T	13.56	2.272847	0.40194	0.049705	0.13907	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.85	5.85	0.93711	Peptidase C1A, propeptide (1);	0.071971	0.85682	D	0.000000	T	0.00144	0.0004	L	0.47190	1.495	0.22034	P	0.999404319	B	0.21753	0.06	B	0.15052	0.012	T	0.05666	-1.0871	9	0.38643	T	0.18	.	11.4166	0.49956	0.0:0.0:0.1508:0.8492	rs1803250;rs2230068;rs11548598;rs17757721;rs17855418;rs52837364;rs61727982	53	P07858	CATB_HUMAN	G	53	ENSP00000415889:S53G;ENSP00000345672:S53G;ENSP00000435105:S53G;ENSP00000433215:S53G;ENSP00000409917:S53G;ENSP00000411254:S53G;ENSP00000342070:S53G;ENSP00000432244:S53G;ENSP00000434217:S53G;ENSP00000436159:S53G;ENSP00000433995:S53G;ENSP00000435074:S53G;ENSP00000436627:S53G;ENSP00000434725:S53G;ENSP00000436122:S53G;ENSP00000431518:S53G;ENSP00000435650:S53G;ENSP00000436074:S53G;ENSP00000435886:S53G;ENSP00000431143:S53G;ENSP00000435260:S53G;ENSP00000433929:S53G	ENSP00000342070:S53G	S	-	1	0	CTSB	11747583	1.000000	0.71417	0.994000	0.49952	0.560000	0.35617	3.402000	0.52608	2.233000	0.73108	0.533000	0.62120	AGC	T|0.896;C|0.103;A|0.000	0.103	strong		0.612	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		C	11710174	T	C	11710174	3	2	22	1	0	0	0	0	1	0	0	0	4030	1551	54	3	894	3	CTSB	8	11710174	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66443	11710174	134653848	4670	9778										
DEFB136	613210	hgsc.bcm.edu	37	chr8	11831557	11831557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatcctggcggacacccGaagaaacatacggctttctg	10	12	1	1	rs73538682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11831557G>A	ENST00000382209.2	-	2	125	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	42					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GCGGACACCCGAAGAAACATA	0.473													G|||	147	0.029353	0.1067	0.0058	5008	,	,		20997	0.0		0.002	False		,,,				2504	0.0				p.F42F		Atlas-SNP	.											.	DEFB136	16	.	0			c.C126T						PASS	.	G		356,3638		15,326,1656	169	174	173		126	-2.5	0.7	8	dbSNP_130	173	5,8353		0,5,4174	no	coding-synonymous	DEFB136	NM_001033018.2		15,331,5830	AA,AG,GG		0.0598,8.9134,2.9226		42/79	11831557	361,11991	1997	4179	6176	SO:0001819	synonymous_variant	613210	exon2			ACACCCGAAGAAA	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"Defensins, beta"	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.126C>T	8.37:g.11831557G>A		Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_001033018	Q4QY36	Silent	SNP	ENST00000382209.2	37	CCDS43709.1																																																																																			G|0.980;A|0.020	0.020	strong		0.473	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018		A	11831557	G	A	11831557	2	1	22	1	0	0	0	0	0	0	0	1	4420	1049	37	1		1	DEFB136	8	11831557	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121383	11831557	134532465	4671	9779										
DEFB135	613209	hgsc.bcm.edu	37	chr8	11842019	11842019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaaaatgtctaaaaaacGaacaatatcgtattttgtgt	7	6	1	0	rs73663074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11842019G>A	ENST00000382208.2	+	2	154	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	52					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						TCTAAAAAACGAACAATATCG	0.388													G|||	220	0.0439297	0.1422	0.013	5008	,	,		20406	0.0		0.0	False		,,,				2504	0.0235				p.E52K		Atlas-SNP	.											.	DEFB135	7	.	0			c.G154A						PASS	.	G	LYS/GLU	467,3281		28,411,1435	112	110	111		154	3.3	0.1	8	dbSNP_130	111	10,8190		0,10,4090	yes	missense	DEFB135	NM_001033017.2	56	28,421,5525	AA,AG,GG		0.122,12.46,3.9923	possibly-damaging	52/78	11842019	477,11471	1874	4100	5974	SO:0001583	missense	613209	exon2			AAAAACGAACAAT	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.154G>A	8.37:g.11842019G>A	ENSP00000371643:p.Glu52Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	103	57	0.553398	NM_001033017	Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	CCDS43710.1	89	0.04075091575091575	86	0.17479674796747968	3	0.008287292817679558	0	0.0	0	0.0	G	17.23	3.337441	0.60963	0.1246	0.00122	ENSG00000205883	ENST00000382208	T	0.73575	-0.76	3.34	3.34	0.38264	.	0.000000	0.33005	N	0.005386	T	0.01029	0.0034	.	.	.	0.80722	P	0.0	D	0.89917	1.0	D	0.87578	0.998	T	0.47328	-0.9126	8	0.87932	D	0	-25.449	10.4608	0.44578	0.0:0.0:1.0:0.0	.	52	Q30KP9	DB135_HUMAN	K	52	ENSP00000371643:E52K	ENSP00000371643:E52K	E	+	1	0	DEFB135	11879428	0.515000	0.26210	0.053000	0.19242	0.001000	0.01503	2.965000	0.49200	2.157000	0.67596	0.561000	0.74099	GAA	G|0.959;A|0.041	0.041	strong		0.388	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		A	11842019	G	A	11842019	3	1	22	1	0	0	0	0	1	0	0	0	4419	1059	37	1	160	1	DEFB135	8	11842019	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10462	11842019	134522003	4672	9780										
USP17L2	377630	hgsc.bcm.edu	37	chr8	11995004	11995004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctctttccaccaagcgCtcgtccaactcgggtgcctg	11	15	1	0	rs186311075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11995004C>T	ENST00000333796.3	-	1	1582	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	422	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCACCAAGCGCTCGTCCAACT	0.562													C|||	51	0.0101837	0.0363	0.0043	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0				p.E422E		Atlas-SNP	.											.	USP17L2	47	.	0			c.G1266A						PASS	.	C		58,3128		3,52,1538	59	65	63		1266	0.7	0	8		63	5,7101		1,3,3549	no	coding-synonymous	USP17L2	NM_201402.2		4,55,5087	TT,TC,CC		0.0704,1.8205,0.6121		422/531	11995004	63,10229	1593	3553	5146	SO:0001819	synonymous_variant	377630	exon1			CAAGCGCTCGTCC	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1266G>A	8.37:g.11995004C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	131	27	0.206107	NM_201402		Silent	SNP	ENST00000333796.3	37	CCDS43713.1																																																																																			C|0.992;T|0.008	0.008	strong		0.562	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		T	11995004	C	T	11995004	2	4	22	1	0	0	0	0	0	0	0	1	17045	796	28	2		2	USP17L2	8	11995004	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152985	11995004	134369018	4673	9781										
USP17L2	377630	hgsc.bcm.edu	37	chr8	11996074	11996074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctactcagaggaagcttctTcctgggagcaagctgtcttg	12	10	3	1	rs142023572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:11996074T>C	ENST00000333796.3	-	1	512	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	66				K -> E (in Ref. 1; AAR91701). {ECO:0000305}.	apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GGAAGCTTCTTCCTGGGAGCA	0.577													t|||	237	0.0473243	0.1679	0.0173	5008	,	,		18470	0.0		0.001	False		,,,				2504	0.002				p.K66E		Atlas-SNP	.											USP17L2,bladder,carcinoma,+2,1	USP17L2	47	1	0			c.A196G						scavenged	.						43	58	53					8																	11996074		1243	2766	4009	SO:0001583	missense	377630	exon1			GCTTCTTCCTGGG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.196A>G	8.37:g.11996074T>C	ENSP00000333329:p.Lys66Glu	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	124	50	0.403226	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	135	0.061813186813186816	73	0.1483739837398374	17	0.04696132596685083	21	0.03671328671328671	24	0.0316622691292876	t	4.441	0.081611	0.08533	.	.	ENSG00000223443	ENST00000333796	T	0.11169	2.8	0.36	0.36	0.16097	.	0.863387	0.09306	N	0.820218	T	0.00039	0.0001	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41413	-0.9510	8	0.02654	T	1	.	2.3221	0.04213	0.0:0.39:0.3289:0.2811	.	66	Q6R6M4	U17L2_HUMAN	E	66	ENSP00000333329:K66E	ENSP00000333329:K66E	K	-	1	0	USP17L2	12033483	0.166000	0.22962	0.015000	0.15790	0.015000	0.08874	0.848000	0.27710	-0.366000	0.08064	-0.368000	0.07277	AAG	T|0.955;C|0.045	0.045	strong		0.577	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		C	11996074	T	C	11996074	3	2	22	1	0	0	0	0	1	0	0	0	17045	1792	62	2	1400	2	USP17L2	8	11996074	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1070	11996074	134367948	4674	9782										
FAM86B1	85002	hgsc.bcm.edu	37	chr8	12044042	12044042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacccggctgtgagggtcGctgaagatgtatgcccgggg	18	9	0	3	rs148527538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12044042G>A	ENST00000448228.2	-	5	508	c.459C>T	c.(457-459)agC>agT	p.S153S	FAM86B1_ENST00000533852.2_Silent_p.S187S|FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000533513.1_3'UTR|FAM86B1_ENST00000534520.1_Intron	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	153								p.S187S(1)		kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TGTGAGGGTCGCTGAAGATGT	0.612																																					p.S153S		Atlas-SNP	.											FAM86B1,NS,carcinoma,0,1	FAM86B1	7	1	1	Substitution - coding silent(1)	stomach(1)	c.C459T						scavenged	.						32	36	35					8																	12044042		1480	2621	4101	SO:0001819	synonymous_variant	85002	exon5			AGGGTCGCTGAAG	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.459C>T	8.37:g.12044042G>A		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	474	49	0.103376	NM_001083537		Silent	SNP	ENST00000448228.2	37	CCDS59512.1																																																																																			G|0.500;A|0.500	0.500	strong		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12044042	G	A	12044042	2	1	22	1	0	0	0	0	0	0	0	1	5644	1078	38	1		1	FAM86B1	8	12044042	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47968	12044042	134319980	4675	9783										
C8orf79	57604	hgsc.bcm.edu	37	chr8	12878755	12878755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacccagaaagaggccatccCtaccatcctccttgctctga	6	16	1	3	rs61736893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12878755C>T	ENST00000524591.2	+	5	1056	c.567C>T	c.(565-567)ccC>ccT	p.P189P	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	189							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGGCCATCCCTACCATCCTC	0.522													C|||	193	0.0385383	0.1415	0.0058	5008	,	,		18661	0.001		0.001	False		,,,				2504	0.0				p.P189P		Atlas-SNP	.											.	KIAA1456	20	.	0			c.C567T						PASS	.	C	,	493,3461		23,447,1507	117	111	113		189,567	-0.9	0	8	dbSNP_129	113	6,8282		0,6,4138	no	coding-synonymous,coding-synonymous	KIAA1456	NM_001099677.1,NM_020844.2	,	23,453,5645	TT,TC,CC		0.0724,12.4684,4.0761	,	63/329,189/455	12878755	499,11743	1977	4144	6121	SO:0001819	synonymous_variant	57604	exon5			CCATCCCTACCAT	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.567C>T	8.37:g.12878755C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	94	37	0.393617	NM_020844	Q96AW6	Silent	SNP	ENST00000524591.2	37	CCDS47808.1																																																																																			C|0.978;T|0.022	0.022	strong		0.522	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		T	12878755	C	T	12878755	2	4	22	1	0	0	0	0	0	0	0	1	2438	668	24	2		2	C8orf79	8	12878755	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	834713	12878755	133485267	4676	9784										
C8orf79	57604	hgsc.bcm.edu	37	chr8	12879016	12879016	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttgaaaaacacagaagtTtgggccagtagcactgtaac	9	10	0	2	rs75377133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12879016T>A	ENST00000524591.2	+	5	1317	c.828T>A	c.(826-828)gtT>gtA	p.V276V	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	276							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACACAGAAGTTTGGGCCAGTA	0.418													T|||	107	0.0213658	0.0794	0.0014	5008	,	,		19745	0.0		0.001	False		,,,				2504	0.0				p.V276V		Atlas-SNP	.											.	KIAA1456	20	.	0			c.T828A						PASS	.	T	,	301,3443		12,277,1583	81	78	79		450,828	-9.9	0	8	dbSNP_132	79	3,8199		0,3,4098	no	coding-synonymous,coding-synonymous	KIAA1456	NM_001099677.1,NM_020844.2	,	12,280,5681	AA,AT,TT		0.0366,8.0395,2.5448	,	150/329,276/455	12879016	304,11642	1872	4101	5973	SO:0001819	synonymous_variant	57604	exon5			AGAAGTTTGGGCC	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.828T>A	8.37:g.12879016T>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	112	47	0.419643	NM_020844	Q96AW6	Silent	SNP	ENST00000524591.2	37	CCDS47808.1																																																																																			T|0.989;A|0.011	0.011	strong		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		A	12879016	T	A	12879016	2	1	22	1	0	0	0	0	0	0	0	1	2438	1828	64	5		5	C8orf79	8	12879016	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	261	12879016	133485006	4677	9785										
C8orf79	57604	hgsc.bcm.edu	37	chr8	12879198	12879198	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaacatttaaatggagaccAtcaaggggaaatgaggagaa	12	4	1	3	rs34995506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12879198A>T	ENST00000524591.2	+	5	1499	c.1010A>T	c.(1009-1011)cAt>cTt	p.H337L	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	337			H -> L (in dbSNP:rs34995506).				methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AATGGAGACCATCAAGGGGAA	0.433													A|||	978	0.195288	0.2436	0.1585	5008	,	,		19756	0.1885		0.1183	False		,,,				2504	0.2423				p.H337L		Atlas-SNP	.											.	KIAA1456	20	.	0			c.A1010T						PASS	.	A	LEU/HIS,LEU/HIS	829,2877		97,635,1121	71	70	70		632,1010	-2.3	0	8	dbSNP_126	70	1122,7074		80,962,3056	yes	missense,missense	KIAA1456	NM_001099677.1,NM_020844.2	99,99	177,1597,4177	TT,TA,AA		13.6896,22.3691,16.3922	benign,benign	211/329,337/455	12879198	1951,9951	1853	4098	5951	SO:0001583	missense	57604	exon5			GAGACCATCAAGG	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1010A>T	8.37:g.12879198A>T	ENSP00000432695:p.His337Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	75	45	0.6	NM_020844	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	378	0.17307692307692307	113	0.22967479674796748	64	0.17679558011049723	112	0.1958041958041958	89	0.11741424802110818	A	4.289	0.052782	0.08291	0.223691	0.136896	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.09445	2.98	4.38	-2.34	0.06704	.	2.018840	0.01919	N	0.040416	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.26400	0.148	B	0.17433	0.018	T	0.39881	-0.9592	9	0.22109	T	0.4	1.2381	0.3267	0.00312	0.3156:0.2675:0.1572:0.2598	rs34995506;rs62486881	337	Q9P272	K1456_HUMAN	L	337;250	ENSP00000432695:H337L	ENSP00000432695:H337L	H	+	2	0	AC135352.2	12923569	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	0.072000	0.14617	-0.507000	0.06549	-0.496000	0.04628	CAT	A|0.832;T|0.168	0.168	strong		0.433	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		T	12879198	A	T	12879198	3	4	22	1	0	0	0	0	1	0	0	0	2438	217	8	5	1020	5	C8orf79	8	12879198	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	182	12879198	133484824	4678	9786										
DLC1	10395	hgsc.bcm.edu	37	chr8	12950315	12950315	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccttgatggcctgcagGcgctggtccttgggcacatc	14	13	0	1	rs568182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12950315G>T	ENST00000276297.4	-	13	3955	c.3546C>A	c.(3544-3546)cgC>cgA	p.R1182R	DLC1_ENST00000358919.2_Silent_p.R745R|DLC1_ENST00000512044.2_Silent_p.R779R|DLC1_ENST00000520226.1_Silent_p.R671R|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1182	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGCCTGCAGGCGCTGGTCCT	0.542													G|||	566	0.113019	0.2481	0.0562	5008	,	,		19641	0.0268		0.0557	False		,,,				2504	0.1186				p.R1182R		Atlas-SNP	.											DLC1,NS,carcinoma,-1,2	DLC1	411	2	0			c.C3546A						PASS	.	G	,,	1000,3406	371.0+/-319.8	103,794,1306	46	40	42		2013,2235,3546	0.1	1	8	dbSNP_83	42	466,8134	137.0+/-194.0	8,450,3842	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	111,1244,5148	TT,TG,GG		5.4186,22.6963,11.2717	,,	671/1018,745/1092,1182/1529	12950315	1466,11540	2203	4300	6503	SO:0001819	synonymous_variant	10395	exon13			CTGCAGGCGCTGG	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3546C>A	8.37:g.12950315G>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	63	34	0.539683	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																			G|0.887;T|0.113	0.113	strong		0.542	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12950315	G	T	12950315	2	4	22	1	0	0	0	0	0	0	0	1	4550	1190	42	4		4	DLC1	8	12950315	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71117	12950315	133413707	4679	9787										
DLC1	10395	hgsc.bcm.edu	37	chr8	12952293	12952293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagatctgtagaaaggtttcCgagagtttgttcgtcattag	11	5	2	3	rs658856	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:12952293C>T	ENST00000276297.4	-	12	3910	c.3501G>A	c.(3499-3501)tcG>tcA	p.S1167S	DLC1_ENST00000512044.2_Silent_p.S764S|DLC1_ENST00000520226.1_Silent_p.S656S|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.S730S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1167	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAAAGGTTTCCGAGAGTTTGT	0.438													C|||	565	0.112819	0.2526	0.0591	5008	,	,		21601	0.0258		0.0557	False		,,,				2504	0.1104				p.S1167S		Atlas-SNP	.											DLC1,caecum,carcinoma,-1,1	DLC1	411	1	0			c.G3501A						PASS	.	C	,,	1006,3400	375.4+/-321.6	103,800,1300	107	99	102		1968,2190,3501	-9.9	0.1	8	dbSNP_83	102	460,8140	137.0+/-194.0	8,444,3848	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	111,1244,5148	TT,TC,CC		5.3488,22.8325,11.2717	,,	656/1018,730/1092,1167/1529	12952293	1466,11540	2203	4300	6503	SO:0001819	synonymous_variant	10395	exon12			GGTTTCCGAGAGT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3501G>A	8.37:g.12952293C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	126	50	0.396825	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																			C|0.888;T|0.112	0.112	strong		0.438	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12952293	C	T	12952293	2	4	22	1	0	0	0	0	0	0	0	1	4550	639	23	1		1	DLC1	8	12952293	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1978	12952293	133411729	4680	9788										
DLC1	10395	hgsc.bcm.edu	37	chr8	13356807	13356807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtttgtgcaaggagtatcCaagaactcattttgtactac	8	8	1	1	rs62637614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:13356807C>T	ENST00000276297.4	-	2	1183	c.774G>A	c.(772-774)ttG>ttA	p.L258L	DLC1_ENST00000316609.5_Silent_p.L258L|DLC1_ENST00000511869.1_Silent_p.L258L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	258					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGGAGTATCCAAGAACTCAT	0.438													C|||	142	0.0283546	0.0507	0.0331	5008	,	,		16429	0.0		0.0239	False		,,,				2504	0.0286				p.L258L		Atlas-SNP	.											.	DLC1	411	.	0			c.G774A						PASS	.	C	,	234,4172	138.0+/-173.8	2,230,1971	156	159	158		774,774	-2.2	0	8	dbSNP_129	158	179,8421	80.4+/-143.0	1,177,4122	no	coding-synonymous,coding-synonymous	DLC1	NM_024767.3,NM_182643.2	,	3,407,6093	TT,TC,CC		2.0814,5.3109,3.1755	,	258/464,258/1529	13356807	413,12593	2203	4300	6503	SO:0001819	synonymous_variant	10395	exon2			AGTATCCAAGAAC	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.774G>A	8.37:g.13356807C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	113	49	0.433628	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																			C|0.968;T|0.032	0.032	strong		0.438	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	13356807	C	T	13356807	2	4	22	1	0	0	0	0	0	0	0	1	4550	593	21	2		2	DLC1	8	13356807	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	404514	13356807	133007215	4681	9789										
DLC1	10395	hgsc.bcm.edu	37	chr8	13357331	13357331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtcattttcgtccacatCctttgaaagatgacccattg	7	11	1	3	rs35173269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:13357331C>T	ENST00000276297.4	-	2	659	c.250G>A	c.(250-252)Gat>Aat	p.D84N	DLC1_ENST00000316609.5_Missense_Mutation_p.D84N|DLC1_ENST00000511869.1_Missense_Mutation_p.D84N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	84					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCGTCCACATCCTTTGAAAGA	0.453													C|||	62	0.0123802	0.0454	0.0014	5008	,	,		20510	0.0		0.001	False		,,,				2504	0.0				p.D84N		Atlas-SNP	.											.	DLC1	411	.	0			c.G250A						PASS	.	C	ASN/ASP,ASN/ASP	215,4191	132.1+/-168.6	8,199,1996	224	226	226		250,250	4.7	0.1	8	dbSNP_126	226	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	DLC1	NM_024767.3,NM_182643.2	23,23	8,202,6293	TT,TC,CC		0.0349,4.8797,1.6761	benign,benign	84/464,84/1529	13357331	218,12788	2203	4300	6503	SO:0001583	missense	10395	exon2			CCACATCCTTTGA	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.250G>A	8.37:g.13357331C>T	ENSP00000276297:p.Asp84Asn	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	20	0.009157509157509158	19	0.03861788617886179	0	0.0	0	0.0	1	0.0013192612137203166	C	11.29	1.596099	0.28445	0.048797	3.49E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.32753	1.44;1.44;1.44	5.55	4.68	0.58851	.	0.542075	0.15368	N	0.266008	T	0.03136	0.0092	N	0.14661	0.345	0.21147	N	0.99977	B;B;B	0.22211	0.039;0.066;0.039	B;B;B	0.24006	0.032;0.05;0.023	T	0.10291	-1.0636	10	0.72032	D	0.01	.	10.6747	0.45778	0.0:0.8543:0.0:0.1457	rs35173269;rs61757613	84;84;84	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	84	ENSP00000276297:D84N;ENSP00000321034:D84N;ENSP00000425878:D84N	ENSP00000276297:D84N	D	-	1	0	DLC1	13401702	1.000000	0.71417	0.145000	0.22337	0.066000	0.16364	3.124000	0.50461	1.500000	0.48636	0.655000	0.94253	GAT	C|0.981;T|0.019	0.019	strong		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	13357331	C	T	13357331	3	4	22	1	0	0	0	0	1	0	0	0	4550	855	30	2	4489	2	DLC1	8	13357331	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	524	13357331	133006691	4682	9790										
ZDHHC2	51201	hgsc.bcm.edu	37	chr8	17067959	17067959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatcctgaacaagcatctaCtcctgcagggctgaattcca	9	12	1	2	rs190630185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17067959C>G	ENST00000262096.8	+	10	1615	c.920C>G	c.(919-921)aCt>aGt	p.T307S		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	307					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CAAGCATCTACTCCTGCAGGG	0.328													C|||	8	0.00159744	0.0	0.0	5008	,	,		16046	0.0		0.008	False		,,,				2504	0.0				p.T307S		Atlas-SNP	.											.	ZDHHC2	25	.	0			c.C920G						PASS	.	C	SER/THR	1,3667		0,1,1833	69	64	65		920	5.5	1	8		65	28,8156		0,28,4064	yes	missense	ZDHHC2	NM_016353.4	58	0,29,5897	GG,GC,CC		0.3421,0.0273,0.2447	benign	307/368	17067959	29,11823	1834	4092	5926	SO:0001583	missense	51201	exon10			CATCTACTCCTGC	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.920C>G	8.37:g.17067959C>G	ENSP00000262096:p.Thr307Ser	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_016353	D3DSP5	Missense_Mutation	SNP	ENST00000262096.8	37	CCDS47810.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	8.049	0.765606	0.15914	2.73E-4	0.003421	ENSG00000104219	ENST00000262096	T	0.41758	0.99	5.53	5.53	0.82687	.	0.075692	0.51477	D	0.000086	T	0.23210	0.0561	N	0.22421	0.69	0.43160	D	0.994945	B	0.11235	0.004	B	0.08055	0.003	T	0.13710	-1.0499	10	0.08179	T	0.78	-3.0288	19.8416	0.96692	0.0:1.0:0.0:0.0	.	307	Q9UIJ5	ZDHC2_HUMAN	S	307	ENSP00000262096:T307S	ENSP00000262096:T307S	T	+	2	0	ZDHHC2	17112330	0.998000	0.40836	0.996000	0.52242	0.427000	0.31564	4.020000	0.57189	2.774000	0.95407	0.585000	0.79938	ACT	C|0.997;G|0.003	0.003	strong		0.328	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		G	17067959	C	G	17067959	3	3	22	1	0	0	0	0	1	0	0	0	17607	565	20	4	958	4	ZDHHC2	8	17067959	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3710628	17067959	129296063	4683	9791										
MTMR7	9108	hgsc.bcm.edu	37	chr8	17206588	17206588	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtaggataagagtcacaGacctgtcaccagaaaataca	8	9	3	3	rs2285291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17206588G>A	ENST00000180173.5	-	5	505	c.471C>T	c.(469-471)gtC>gtT	p.V157V	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Silent_p.V157V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	157	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AAGAGTCACAGACCTGTCACC	0.488													G|||	570	0.113818	0.0272	0.2046	5008	,	,		18749	0.2966		0.0686	False		,,,				2504	0.0245				p.V157V		Atlas-SNP	.											.	MTMR7	75	.	0			c.C471T						PASS	.	G		158,4248	106.9+/-145.3	0,158,2045	99	96	97		471	-5	0.9	8	dbSNP_100	97	360,8240	120.2+/-179.5	11,338,3951	no	coding-synonymous	MTMR7	NM_004686.4		11,496,5996	AA,AG,GG		4.186,3.586,3.9828		157/661	17206588	518,12488	2203	4300	6503	SO:0001819	synonymous_variant	9108	exon5			GTCACAGACCTGT	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.471C>T	8.37:g.17206588G>A		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	36	36	1	NM_004686	A1L4K9|B4DG87|Q68DX4	Silent	SNP	ENST00000180173.5	37	CCDS34851.1																																																																																			G|0.923;A|0.077	0.077	strong		0.488	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		A	17206588	G	A	17206588	2	1	22	1	0	0	0	0	0	0	0	1	9948	929	33	2		2	MTMR7	8	17206588	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138629	17206588	129157434	4684	9792										
PDGFRL	5157	hgsc.bcm.edu	37	chr8	17434813	17434813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgcacgaagcgctggagGatggtgagtgactctgggcg	19	7	1	2	rs114432448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17434813G>A	ENST00000541323.1	+	2	497	c.52G>A	c.(52-54)Gat>Aat	p.D18N	PDGFRL_ENST00000251630.6_Missense_Mutation_p.D18N|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D18N	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	18					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGCGCTGGAGGATGGTGAGTG	0.677											OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	61	0.0121805	0.0431	0.0058	5008	,	,		10540	0.0		0.0	False		,,,				2504	0.0				p.D18N		Atlas-SNP	.											.	PDGFRL	27	.	0			c.G52A						PASS	.	G	ASN/ASP	171,4235	109.5+/-147.8	4,163,2036	54	51	52		52	0.6	0.7	8	dbSNP_132	52	0,8600		0,0,4300	yes	missense	PDGFRL	NM_006207.2	23	4,163,6336	AA,AG,GG		0.0,3.8811,1.3148	benign	18/376	17434813	171,12835	2203	4300	6503	SO:0001583	missense	5157	exon2			CTGGAGGATGGTG	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.52G>A	8.37:g.17434813G>A	ENSP00000444211:p.Asp18Asn	Somatic	152	0	0	718	WXS	Illumina HiSeq	Phase_I	140	68	0.485714	NM_006207	A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	CCDS6003.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	G	3.726	-0.056629	0.07362	0.038811	0.0	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.32023	1.47;1.47;1.47	3.59	0.567	0.17325	.	0.436898	0.23854	N	0.043902	T	0.02848	0.0085	N	0.22421	0.69	0.27009	N	0.964738	B	0.02656	0.0	B	0.01281	0.0	T	0.20538	-1.0272	10	0.09843	T	0.71	-12.0401	3.4884	0.07629	0.388:0.1982:0.4137:0.0	.	18	Q15198	PGFRL_HUMAN	N	18	ENSP00000251630:D18N;ENSP00000444211:D18N;ENSP00000381149:D18N	ENSP00000251630:D18N	D	+	1	0	PDGFRL	17479098	0.860000	0.29831	0.667000	0.29798	0.381000	0.30169	0.234000	0.17930	0.097000	0.17492	0.462000	0.41574	GAT	G|0.987;A|0.013	0.013	strong		0.677	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		A	17434813	G	A	17434813	3	1	22	1	0	0	0	0	1	0	0	0	11663	1174	41	2	54	2	PDGFRL	8	17434813	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	228225	17434813	128929209	4685	9793										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17513414	17513414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttctctgcttcttcaatGtaagtgtcccgaagcttttc	6	11	3	0	rs12224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17513414G>A	ENST00000262102.6	-	9	3290	c.3066C>T	c.(3064-3066)taC>taT	p.Y1022Y	MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Silent_p.Y94Y|MTUS1_ENST00000297488.6_Silent_p.Y188Y|MTUS1_ENST00000381861.3_Silent_p.Y269Y|MTUS1_ENST00000544260.1_Silent_p.Y167Y|MTUS1_ENST00000519263.1_Silent_p.Y968Y|MTUS1_ENST00000381869.3_Silent_p.Y968Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1022					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCTTCAATGTAAGTGTCCC	0.463													G|||	386	0.0770767	0.1263	0.0548	5008	,	,		19300	0.0208		0.0726	False		,,,				2504	0.089				p.Y1022Y		Atlas-SNP	.											.	MTUS1	144	.	0			c.C3066T						PASS	.	G	,,,,	420,3332		22,376,1478	180	164	169		3066,2904,807,501,564	2.3	0.6	8	dbSNP_52	169	739,7503		28,683,3410	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTUS1	NM_001001924.2,NM_001001925.2,NM_001001931.2,NM_001166393.1,NM_020749.4	,,,,	50,1059,4888	AA,AG,GG		8.9663,11.194,9.6632	,,,,	1022/1271,968/1217,269/518,167/416,188/437	17513414	1159,10835	1876	4121	5997	SO:0001819	synonymous_variant	57509	exon9			TTCAATGTAAGTG	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3066C>T	8.37:g.17513414G>A		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	215	102	0.474419	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																			G|0.920;A|0.080	0.080	strong		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17513414	G	A	17513414	2	1	22	1	0	0	0	0	0	0	0	1	9965	1372	48	2		2	MTUS1	8	17513414	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78601	17513414	128850608	4686	9794										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17612064	17612064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgtctgtgctaatgaccAtatcatttgcatcccaagtc	6	10	2	1	rs75253845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17612064A>C	ENST00000262102.6	-	2	1477	c.1253T>G	c.(1252-1254)aTg>aGg	p.M418R	MTUS1_ENST00000381862.3_Missense_Mutation_p.M418R|MTUS1_ENST00000519263.1_Missense_Mutation_p.M418R|MTUS1_ENST00000381869.3_Missense_Mutation_p.M418R	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	418					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCTAATGACCATATCATTTGC	0.443													A|||	134	0.0267572	0.0991	0.0043	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0				p.M418R		Atlas-SNP	.											.	MTUS1	144	.	0			c.T1253G						PASS	.	A	ARG/MET,ARG/MET	262,3548		9,244,1652	97	92	93		1253,1253	-3.9	0	8	dbSNP_131	93	0,8240		0,0,4120	yes	missense,missense	MTUS1	NM_001001924.2,NM_001001925.2	91,91	9,244,5772	CC,CA,AA		0.0,6.8766,2.1743	benign,benign	418/1271,418/1217	17612064	262,11788	1905	4120	6025	SO:0001583	missense	57509	exon2			ATGACCATATCAT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1253T>G	8.37:g.17612064A>C	ENSP00000262102:p.Met418Arg	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	134	68	0.507463	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	45	0.020604395604395604	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	0	0.0	A	0.005	-2.138056	0.00335	0.068766	0.0	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.17854	3.24;3.27;3.24;2.25	5.0	-3.89	0.04193	.	1.334190	0.04473	N	0.376484	T	0.00356	0.0011	N	0.24115	0.695	0.09310	N	1	B;B;B	0.30824	0.296;0.296;0.296	B;B;B	0.27380	0.079;0.037;0.053	T	0.23048	-1.0199	10	0.66056	D	0.02	1.3614	1.2801	0.02039	0.384:0.2677:0.2254:0.1229	.	418;418;418	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	R	418	ENSP00000371293:M418R;ENSP00000262102:M418R;ENSP00000430167:M418R;ENSP00000371286:M418R	ENSP00000262102:M418R	M	-	2	0	MTUS1	17656344	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.074000	0.14662	-0.755000	0.04709	-0.336000	0.08194	ATG	A|0.978;C|0.022	0.022	strong		0.443	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		C	17612064	A	C	17612064	3	2	22	1	0	0	0	0	1	0	0	0	9965	217	8	5	2934	5	MTUS1	8	17612064	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	98650	17612064	128751958	4687	9795										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17612518	17612518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggtgacctttcctgaagAacatgcacactgatttccaa	7	11	0	4	rs61733696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17612518A>G	ENST00000262102.6	-	2	1023	c.799T>C	c.(799-801)Tct>Cct	p.S267P	MTUS1_ENST00000381862.3_Missense_Mutation_p.S267P|MTUS1_ENST00000519263.1_Missense_Mutation_p.S267P|MTUS1_ENST00000381869.3_Missense_Mutation_p.S267P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	267					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTCCTGAAGAACATGCACAC	0.428													A|||	159	0.0317492	0.0	0.0144	5008	,	,		21815	0.0714		0.0288	False		,,,				2504	0.0491				p.S267P		Atlas-SNP	.											.	MTUS1	144	.	0			c.T799C						PASS	.	A	PRO/SER,PRO/SER	28,3874		0,28,1923	213	195	201		799,799	4.3	0.9	8	dbSNP_129	201	290,8006		4,282,3862	yes	missense,missense	MTUS1	NM_001001924.2,NM_001001925.2	74,74	4,310,5785	GG,GA,AA		3.4957,0.7176,2.607	probably-damaging,probably-damaging	267/1271,267/1217	17612518	318,11880	1951	4148	6099	SO:0001583	missense	57509	exon2			CTGAAGAACATGC	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.799T>C	8.37:g.17612518A>G	ENSP00000262102:p.Ser267Pro	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	84	46	0.547619	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	60	0.027472527472527472	0	0.0	10	0.027624309392265192	26	0.045454545454545456	24	0.0316622691292876	A	12.91	2.078409	0.36662	0.007176	0.034957	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.30182	2.45;2.5;2.45;1.54	4.29	4.29	0.51040	.	0.100277	0.43260	D	0.000582	T	0.09379	0.0231	L	0.32530	0.975	0.33123	D	0.541998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.35895	-0.9770	10	0.87932	D	0	-13.4164	10.1107	0.42561	1.0:0.0:0.0:0.0	rs61733696	267;267;267	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	P	267	ENSP00000371293:S267P;ENSP00000262102:S267P;ENSP00000430167:S267P;ENSP00000371286:S267P	ENSP00000262102:S267P	S	-	1	0	MTUS1	17656798	0.024000	0.19004	0.900000	0.35374	0.186000	0.23388	0.880000	0.28159	2.163000	0.67991	0.482000	0.46254	TCT	A|0.971;G|0.029	0.029	strong		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		G	17612518	A	G	17612518	3	3	22	1	0	0	0	0	1	0	0	0	9965	246	9	2	3388	2	MTUS1	8	17612518	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	454	17612518	128751504	4688	9796										
ASAH1	427	hgsc.bcm.edu	37	chr8	17927327	17927327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatccaccacctgcataaTttttccacttggcacgaatg	5	13	1	0	rs1049874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17927327T>C	ENST00000262097.6	-	4	588	c.277A>G	c.(277-279)Att>Gtt	p.I93V	ASAH1_ENST00000417108.2_Missense_Mutation_p.I28V|ASAH1_ENST00000381733.4_Missense_Mutation_p.I109V|ASAH1_ENST00000520781.1_Missense_Mutation_p.I93V|ASAH1_ENST00000314146.10_Intron|ASAH1_ENST00000520051.1_5'Flank	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	93			I -> V (in dbSNP:rs1049874). {ECO:0000269|PubMed:10993717, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8955159, ECO:0000269|Ref.2}.		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)		ACCTGCATAATTTTTCCACTT	0.279													T|||	2106	0.420527	0.2496	0.5735	5008	,	,		17684	0.372		0.4771	False		,,,				2504	0.5348				p.I109V		Atlas-SNP	.											.	ASAH1	71	.	0			c.A325G						PASS	.	T	,VAL/ILE,VAL/ILE	1253,3151	420.8+/-339.2	194,865,1143	92	88	89		,325,277	-10.5	0	8	dbSNP_86	89	4229,4369	566.5+/-388.7	1034,2161,1104	yes	intron,missense,missense	ASAH1	NM_001127505.1,NM_004315.4,NM_177924.3	,29,29	1228,3026,2247	CC,CT,TT		49.1859,28.4514,42.1627	,benign,benign	,109/412,93/396	17927327	5482,7520	2202	4299	6501	SO:0001583	missense	427	exon4			GCATAATTTTTCC	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.277A>G	8.37:g.17927327T>C	ENSP00000262097:p.Ile93Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	24	0.436364	NM_004315	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	927	0.42445054945054944	148	0.3008130081300813	219	0.6049723756906077	204	0.35664335664335667	356	0.46965699208443273	T	0.084	-1.179147	0.01633	0.284514	0.491859	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.23	-10.5	0.00291	.	0.816289	0.11418	N	0.566080	T	0.00012	0.0000	N	0.16307	0.4	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26155	-1.0111	9	0.12766	T	0.61	-4.3637	4.1802	0.10370	0.0758:0.3291:0.3039:0.2912	rs1049874;rs1049881;rs1804721;rs3174002;rs17416580;rs17856504;rs52833760;rs59209829;rs1049874	109;93;93	Q13510-2;E7EMM4;Q13510	.;.;ASAH1_HUMAN	V	93;109;93;28	ENSP00000262097:I93V;ENSP00000371152:I109V;ENSP00000427751:I93V;ENSP00000394125:I28V	ENSP00000262097:I93V	I	-	1	0	ASAH1	17971607	0.001000	0.12720	0.002000	0.10522	0.310000	0.27922	-1.936000	0.01549	-3.229000	0.00210	-0.804000	0.03201	ATT	T|0.579;C|0.421	0.421	strong		0.279	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		C	17927327	T	C	17927327	3	2	22	1	0	0	0	0	1	0	0	0	1006	1493	52	2	954	2	ASAH1	8	17927327	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	314809	17927327	128436695	4689	9797										
ASAH1	427	hgsc.bcm.edu	37	chr8	17928811	17928811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagcatcatagcataccaCtggtgccttgtcaagcatca	7	11	3	0	rs1071645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17928811C>T	ENST00000262097.6	-	3	525	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	ASAH1_ENST00000381733.4_Missense_Mutation_p.V88M|ASAH1_ENST00000417108.2_Missense_Mutation_p.V7M|ASAH1_ENST00000520051.1_5'Flank|ASAH1_ENST00000520781.1_Missense_Mutation_p.V72M|ASAH1_ENST00000314146.10_Missense_Mutation_p.V95M	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	72			V -> M (in dbSNP:rs1071645). {ECO:0000269|PubMed:10993717, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8955159, ECO:0000269|Ref.2}.		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)		TAGCATACCACTGGTGCCTTG	0.303													T|||	2106	0.420527	0.2504	0.5735	5008	,	,		15607	0.373		0.4761	False		,,,				2504	0.5337				p.V95M		Atlas-SNP	.											.	ASAH1	71	.	0			c.G283A						PASS	.	T	MET/VAL,MET/VAL,MET/VAL	1275,3131	685.6+/-404.6	194,887,1122	164	132	143		283,262,214	-3.3	0	8	dbSNP_86	143	4243,4357	564.2+/-388.3	1031,2181,1088	yes	missense,missense,missense	ASAH1	NM_001127505.1,NM_004315.4,NM_177924.3	21,21,21	1225,3068,2210	TT,TC,CC		49.3372,28.9378,42.4266	benign,benign,benign	95/390,88/412,72/396	17928811	5518,7488	2203	4300	6503	SO:0001583	missense	427	exon4			ATACCACTGGTGC	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.214G>A	8.37:g.17928811C>T	ENSP00000262097:p.Val72Met	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_001127505	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	925	0.42353479853479853	147	0.29878048780487804	219	0.6049723756906077	204	0.35664335664335667	355	0.4683377308707124	T	8.835	0.940822	0.18281	0.289378	0.493372	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.52057	0.79;0.79;0.79;0.79;0.68	5.1	-3.27	0.05048	.	1.506130	0.03689	N	0.246842	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.09377	0.0;0.003;0.004;0.004	T	0.41556	-0.9502	9	0.35671	T	0.21	-4.7588	6.9396	0.24486	0.2468:0.5673:0.1013:0.0846	rs1071645;rs1804720;rs3190053;rs3190062;rs11538151;rs12544854;rs17416573;rs17845496;rs17858382;rs52809253;rs60844591;rs12544854	95;88;72;72	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	M	72;88;72;7;95	ENSP00000262097:V72M;ENSP00000371152:V88M;ENSP00000427751:V72M;ENSP00000394125:V7M;ENSP00000326970:V95M	ENSP00000262097:V72M	V	-	1	0	ASAH1	17973091	0.212000	0.23540	0.000000	0.03702	0.002000	0.02628	0.402000	0.20965	-1.107000	0.03004	-2.194000	0.00310	GTG	T|0.339;G|0.122	0.339	strong		0.303	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		T	17928811	C	T	17928811	3	4	22	1	0	0	0	0	1	0	0	0	1006	565	20	2	1021	2	ASAH1	8	17928811	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1484	17928811	128435211	4690	9798										
ASAH1	427	hgsc.bcm.edu	37	chr8	17930772	17930772	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagagtatccaccttataaCagcagggaagacactatatg	8	8	0	2	rs3753115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17930772C>T	ENST00000262097.6	-	3	437				ASAH1_ENST00000417108.2_Intron|ASAH1_ENST00000381733.4_Intron|ASAH1_ENST00000520781.1_Intron|ASAH1_ENST00000314146.10_Missense_Mutation_p.V63I|ASAH1_ENST00000520051.1_Intron	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)		CACCTTATAACAGCAGGGAAG	0.328													T|||	2071	0.413538	0.2504	0.5735	5008	,	,		19990	0.3532		0.4771	False		,,,				2504	0.5174				p.V63I		Atlas-SNP	.											.	ASAH1	71	.	0			c.G187A						PASS	.	T	ILE/VAL,,	880,2254		138,604,825	60	44	49		187,,	-1.6	0	8	dbSNP_107	49	3484,3676		840,1804,936	yes	missense,intron,intron	ASAH1	NM_001127505.1,NM_004315.4,NM_177924.3	29,,	978,2408,1761	TT,TC,CC		48.6592,28.0791,42.3936	,,	63/390,,	17930772	4364,5930	1567	3580	5147	SO:0001627	intron_variant	427	exon3			TTATAACAGCAGG	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.126-1873G>A	8.37:g.17930772C>T		Somatic	463	0	0		WXS	Illumina HiSeq	Phase_I	327	107	0.327217	NM_001127505	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	920	0.42124542124542125	148	0.3008130081300813	219	0.6049723756906077	200	0.34965034965034963	353	0.4656992084432718	T	2.153	-0.394073	0.04899	0.280791	0.486592	ENSG00000104763	ENST00000314146	T	0.70869	-0.52	3.6	-1.63	0.08345	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	8	0.19590	T	0.45	.	2.3428	0.04264	0.1861:0.4184:0.2471:0.1484	rs3753115;rs58952721;rs3753115	63	E9PDS0	.	I	63	ENSP00000326970:V63I	ENSP00000326970:V63I	V	-	1	0	ASAH1	17975052	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.047000	0.03521	-0.675000	0.05246	-2.597000	0.00163	GTT	C|0.584;T|0.416	0.416	strong		0.328	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		T	17930772	C	T	17930772	1	4	22	0	1	0	0	0	0	0	0	0	1006	478	17	2		2	ASAH1	8	17930772	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1961	17930772	128433250	4691	9799										
ASAH1	427	hgsc.bcm.edu	37	chr8	17942204	17942204	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgggctttcacagcaaagCtgccaaatcccagaattgag	9	11	1	2	rs13263632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:17942204C>T	ENST00000262097.6	-	0	0				ASAH1_ENST00000417108.2_5'Flank|ASAH1_ENST00000381733.4_Missense_Mutation_p.S36N|CTD-2547L16.1_ENST00000499554.2_RNA|ASAH1_ENST00000520781.1_5'Flank|ASAH1_ENST00000314146.10_Missense_Mutation_p.S36N|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000521775.1_RNA	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)		CACAGCAAAGCTGCCAAATCC	0.587											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	348	0.0694888	0.1536	0.0317	5008	,	,		16475	0.0298		0.0348	False		,,,				2504	0.0593				p.S36N		Atlas-SNP	.											.	ASAH1	71	.	0			c.G107A						PASS	.	C	ASN/SER,ASN/SER	640,3766		45,550,1608	50	50	50		107,107	0.2	0	8	dbSNP_121	50	416,8184		9,398,3893	yes	missense,missense	ASAH1	NM_001127505.1,NM_004315.4	46,46	54,948,5501	TT,TC,CC		4.8372,14.5256,8.1193	,	36/390,36/412	17942204	1056,11950	2203	4300	6503	SO:0001631	upstream_gene_variant	427	exon1			GCAAAGCTGCCAA	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		8.37:g.17942204C>T	Exception_encountered	Somatic	63	0	0	721	WXS	Illumina HiSeq	Phase_I	56	26	0.464286	NM_001127505	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	137	0.06272893772893773	76	0.15447154471544716	13	0.03591160220994475	17	0.02972027972027972	31	0.040897097625329816	.	8.884	0.952250	0.18431	0.145256	0.048372	ENSG00000104763	ENST00000381733;ENST00000314146	T;T	0.71461	-0.45;-0.57	3.11	0.221	0.15283	.	35.164000	0.00166	N	0.000000	T	0.00328	0.0010	N	0.08118	0	0.58432	P	4.000000000004E-6	B;B	0.13145	0.005;0.007	B;B	0.11329	0.002;0.006	T	0.03717	-1.1010	9	0.15952	T	0.53	-6.1906	3.2332	0.06756	0.0:0.5083:0.2265:0.2652	rs13263632;rs17436114;rs52832668;rs13263632	36;36	E9PDS0;Q13510-2	.;.	N	36	ENSP00000371152:S36N;ENSP00000326970:S36N	ENSP00000326970:S36N	S	-	2	0	ASAH1	17986484	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.267000	0.08619	0.029000	0.15352	0.563000	0.77884	AGC	C|0.924;T|0.076	0.076	strong		0.587	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		T	17942204	C	T	17942204	1	4	22	0	1	0	0	0	0	0	0	0	1006	797	28	2		2	ASAH1	8	17942204	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11432	17942204	128421818	4692	9800										
SH2D4A	63898	hgsc.bcm.edu	37	chr8	19192332	19192332	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaactggagcaaggatcGaggccagcaccaaccctgga	14	11	0	0	rs56005620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:19192332G>T	ENST00000265807.3	+	4	888	c.477G>T	c.(475-477)tcG>tcT	p.S159S	SH2D4A_ENST00000519207.1_Silent_p.S159S|SH2D4A_ENST00000518040.1_Silent_p.S114S	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	159					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCAAGGATCGAGGCCAGCAC	0.483													T|||	1531	0.305711	0.5809	0.1945	5008	,	,		17983	0.2073		0.167	False		,,,				2504	0.2566				p.S159S		Atlas-SNP	.											SH2D4A,NS,carcinoma,+1,3	SH2D4A	49	3	0			c.G477T						PASS	.	T	,,	2229,2177	585.4+/-386.2	560,1109,534	98	94	95		477,342,477	-10.8	0	8	dbSNP_129	95	1608,6992	742.3+/-407.2	155,1298,2847	no	coding-synonymous,coding-synonymous,coding-synonymous	SH2D4A	NM_001174159.1,NM_001174160.1,NM_022071.3	,,	715,2407,3381	TT,TG,GG		18.6977,49.4099,29.5018	,,	159/455,114/410,159/455	19192332	3837,9169	2203	4300	6503	SO:0001819	synonymous_variant	63898	exon4			AGGATCGAGGCCA	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.477G>T	8.37:g.19192332G>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_022071	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	CCDS6009.1																																																																																			G|0.718;T|0.282	0.282	strong		0.483	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		T	19192332	G	T	19192332	2	4	22	1	0	0	0	0	0	0	0	1	14235	1045	37	4		4	SH2D4A	8	19192332	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1250128	19192332	127171690	4693	9801										
SH2D4A	63898	hgsc.bcm.edu	37	chr8	19221784	19221784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggggcatatcctcaaaAacctcttaggtaagaagcca	8	11	3	1	rs35319139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:19221784A>G	ENST00000265807.3	+	7	1319	c.908A>G	c.(907-909)aAa>aGa	p.K303R	SH2D4A_ENST00000518040.1_Missense_Mutation_p.K258R|SH2D4A_ENST00000519207.1_Missense_Mutation_p.K303R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	303					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TATCCTCAAAAACCTCTTAGG	0.473													A|||	113	0.0225639	0.0825	0.0043	5008	,	,		16415	0.0		0.001	False		,,,				2504	0.0				p.K303R		Atlas-SNP	.											.	SH2D4A	49	.	0			c.A908G						PASS	.	A	ARG/LYS,ARG/LYS,ARG/LYS	338,4068	177.6+/-206.5	7,324,1872	52	50	51		908,773,908	2.1	0	8	dbSNP_126	51	0,8600		0,0,4300	yes	missense,missense,missense	SH2D4A	NM_001174159.1,NM_001174160.1,NM_022071.3	26,26,26	7,324,6172	GG,GA,AA		0.0,7.6714,2.5988	benign,benign,benign	303/455,258/410,303/455	19221784	338,12668	2203	4300	6503	SO:0001583	missense	63898	exon7			CTCAAAAACCTCT	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.908A>G	8.37:g.19221784A>G	ENSP00000265807:p.Lys303Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_022071	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	36	0.016483516483516484	34	0.06910569105691057	2	0.0055248618784530384	0	0.0	0	0.0	A	6.884	0.532610	0.13127	0.076714	0.0	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.12672	2.66;2.66;2.66	5.75	2.12	0.27331	.	0.818608	0.11013	N	0.609227	T	0.00300	0.0009	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45440	-0.9261	10	0.11794	T	0.64	.	4.2604	0.10739	0.6516:0.1741:0.1743:0.0	rs35319139	258;303	B4DDR1;Q9H788	.;SH24A_HUMAN	R	303;258;303	ENSP00000265807:K303R;ENSP00000429482:K258R;ENSP00000428684:K303R	ENSP00000265807:K303R	K	+	2	0	SH2D4A	19266064	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	0.275000	0.18698	0.443000	0.26582	0.460000	0.39030	AAA	A|0.973;G|0.027	0.027	strong		0.473	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		G	19221784	A	G	19221784	3	3	22	1	0	0	0	0	1	0	0	0	14235	14	1	2	980	2	SH2D4A	8	19221784	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29452	19221784	127142238	4694	9802										
CSGALNACT1	55790	hgsc.bcm.edu	37	chr8	19316086	19316086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgagccgtttgaattcGtgtttgtggtcccctttgaa	11	7	0	4	rs12155539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:19316086G>A	ENST00000454498.2	-	5	1715	c.702C>T	c.(700-702)caC>caT	p.H234H	CSGALNACT1_ENST00000332246.6_Silent_p.H234H|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.H234H|CSGALNACT1_ENST00000311540.4_Silent_p.H234H|CSGALNACT1_ENST00000544602.1_Silent_p.H234H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	234					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTTTGAATTCGTGTTTGTGGT	0.423													G|||	2298	0.458866	0.1997	0.5576	5008	,	,		18551	0.8581		0.3519	False		,,,				2504	0.4376				p.H234H		Atlas-SNP	.											CSGALNACT1,colon,carcinoma,0,1	CSGALNACT1	72	1	0			c.C702T						PASS	.	G	,	977,3429	365.9+/-317.6	95,787,1321	301	276	284		702,702	-6.8	0.5	8	dbSNP_120	284	3104,5496	475.7+/-369.2	532,2040,1728	no	coding-synonymous,coding-synonymous	CSGALNACT1	NM_001130518.1,NM_018371.4	,	627,2827,3049	AA,AG,GG		36.093,22.1743,31.3778	,	234/533,234/533	19316086	4081,8925	2203	4300	6503	SO:0001819	synonymous_variant	55790	exon5			GAATTCGTGTTTG	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.702C>T	8.37:g.19316086G>A		Somatic	332	1	0.00301205		WXS	Illumina HiSeq	Phase_I	351	149	0.424501	NM_018371	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																			G|0.616;A|0.384	0.384	strong		0.423	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		A	19316086	G	A	19316086	2	1	22	1	0	0	0	0	0	0	0	1	3938	1136	40	1		1	CSGALNACT1	8	19316086	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94302	19316086	127047936	4695	9803										
LPL	4023	hgsc.bcm.edu	37	chr8	19818436	19818436	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtttccacaaataagacCtactccttcctaatttacac	3	12	0	1	rs316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:19818436C>A	ENST00000311322.8	+	8	1634	c.1164C>A	c.(1162-1164)acC>acA	p.T388T		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	388	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CAAATAAGACCTACTCCTTCC	0.403													A|||	764	0.152556	0.2368	0.1455	5008	,	,		14705	0.1121		0.1203	False		,,,				2504	0.1186				p.T388T		Atlas-SNP	.											.	LPL	78	.	0			c.C1164A						PASS	.	A		1008,3398	728.4+/-409.9	116,776,1311	104	103	104		1164	-11.3	0.4	8	dbSNP_36	104	1055,7545	770.4+/-407.7	56,943,3301	no	coding-synonymous	LPL	NM_000237.2		172,1719,4612	AA,AC,CC		12.2674,22.8779,15.8619		388/476	19818436	2063,10943	2203	4300	6503	SO:0001819	synonymous_variant	4023	exon8			TAAGACCTACTCC		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1164C>A	8.37:g.19818436C>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	71	23	0.323944	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	CCDS6012.1																																																																																			C|0.846;A|0.154	0.154	strong		0.403	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			A	19818436	C	A	19818436	2	1	22	1	0	0	0	0	0	0	0	1	8921	668	24	4		4	LPL	8	19818436	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	502350	19818436	126545586	4696	9804										
LPL	4023	hgsc.bcm.edu	37	chr8	19819724	19819724	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtctctgaataagaagtCaggctggtgagcattctggg	13	7	3	3	rs328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:19819724C>G	ENST00000311322.8	+	9	1891	c.1421C>G	c.(1420-1422)tCa>tGa	p.S474*		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	474					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AATAAGAAGTCAGGCTGGTGA	0.502													C|||	463	0.0924521	0.0613	0.0634	5008	,	,		19349	0.122		0.1302	False		,,,				2504	0.0859				p.S474X		Atlas-SNP	.											.	LPL	78	.	0			c.C1421G	GRCh37	CM900164	LPL	M	rs328	PASS	.	C	stop/SER	291,4115	159.2+/-191.8	7,277,1919	133	123	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1421	4	1	8	dbSNP_36	126	832,7768	191.4+/-237.6	45,742,3513	yes	stop-gained	LPL	NM_000237.2		52,1019,5432	GG,GC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	9.6744,6.6046,8.6345		474/476	19819724	1123,11883	2203	4300	6503	SO:0001587	stop_gained	4023	exon9			AGAAGTCAGGCTG		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1421C>G	8.37:g.19819724C>G	ENSP00000309757:p.Ser474*	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	75	45	0.6	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Nonsense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	210	0.09615384615384616	26	0.052845528455284556	28	0.07734806629834254	63	0.11013986013986014	93	0.12269129287598944	C	42	9.203276	0.99099	0.066046	0.096744	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.89	4.01	0.46588	.	1.169270	0.05850	N	0.621066	.	.	.	.	.	.	0.27649	P	0.947441	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.8612	7.5989	0.28065	0.2764:0.6427:0.0:0.0808	rs328;rs3735962;rs17482566;rs52834251;rs328	.	.	.	X	474;460	.	.	S	+	2	0	LPL	19864004	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.684000	0.25364	2.793000	0.96121	0.655000	0.94253	TCA	C|0.914;G|0.086	0.086	strong		0.502	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			G	19819724	C	G	19819724	4	3	22	1	0	0	0	0	0	1	0	0	8921	838	29	4	1455	4	LPL	8	19819724	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1288	19819724	126544298	4697	9805										
SLC18A1	6570	hgsc.bcm.edu	37	chr8	20036827	20036827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattcatccatgctattccaCtaggtacgctttcttcaaca	4	13	3	0	rs2270637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:20036827C>G	ENST00000276373.5	-	3	559	c.293G>C	c.(292-294)aGt>aCt	p.S98T	SLC18A1_ENST00000437980.1_Missense_Mutation_p.S98T|SLC18A1_ENST00000265808.7_Missense_Mutation_p.S98T|SLC18A1_ENST00000440926.1_Missense_Mutation_p.S98T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.S98T|SLC18A1_ENST00000381608.4_Missense_Mutation_p.S98T	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	98			S -> T (in dbSNP:rs2270637).		monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TGCTATTCCACTAGGTACGCT	0.517													C|||	953	0.190296	0.233	0.1499	5008	,	,		18977	0.1448		0.1889	False		,,,				2504	0.2096				p.S98T		Atlas-SNP	.											SLC18A1,colon,carcinoma,0,1	SLC18A1	68	1	0			c.G293C						PASS	.	C	THR/SER,THR/SER,THR/SER,THR/SER	978,3428	366.4+/-317.8	111,756,1336	169	112	131		293,293,293,293	-5.8	0	8	dbSNP_100	131	1640,6960	303.7+/-306.6	153,1334,2813	yes	missense,missense,missense,missense	SLC18A1	NM_001135691.2,NM_001142324.1,NM_001142325.1,NM_003053.3	58,58,58,58	264,2090,4149	GG,GC,CC		19.0698,22.197,20.1292	benign,benign,benign,benign	98/526,98/494,98/473,98/526	20036827	2618,10388	2203	4300	6503	SO:0001583	missense	6570	exon4			ATTCCACTAGGTA		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.293G>C	8.37:g.20036827C>G	ENSP00000276373:p.Ser98Thr	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	195	93	0.476923	NM_001142324	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	413	0.1891025641025641	113	0.22967479674796748	49	0.13535911602209943	103	0.18006993006993008	148	0.19525065963060687	C	4.515	0.095568	0.08681	0.22197	0.190698	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04454	3.9;3.91;3.91;3.9;3.9;3.9;3.62	5.95	-5.81	0.02340	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.659160	0.02116	N	0.055177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.21225	0.0;0.053;0.033	B;B;B	0.27170	0.01;0.056;0.077	T	0.46624	-0.9178	9	0.17832	T	0.49	14.038	3.2589	0.06842	0.1298:0.2963:0.0947:0.4792	rs2270637;rs17215794;rs17840572;rs2270637	98;98;98	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	T	98	ENSP00000265808:S98T;ENSP00000276373:S98T;ENSP00000387549:S98T;ENSP00000413361:S98T;ENSP00000429664:S98T;ENSP00000371021:S98T;ENSP00000428999:S98T	ENSP00000265808:S98T	S	-	2	0	SLC18A1	20081107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.746000	0.04829	-0.799000	0.04439	-0.880000	0.02959	AGT	C|0.796;G|0.204	0.204	strong		0.517	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			G	20036827	C	G	20036827	3	3	22	1	0	0	0	0	1	0	0	0	14425	565	20	4	1340	4	SLC18A1	8	20036827	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	217103	20036827	126327195	4698	9806										
LZTS1	11178	hgsc.bcm.edu	37	chr8	20107325	20107325	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgctgtccccacgtgccaGctgctgcagggccttctcca	12	17	1	0	rs114929298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:20107325G>C	ENST00000381569.1	-	4	2056	c.1699C>G	c.(1699-1701)Ctg>Gtg	p.L567V	LZTS1_ENST00000522290.1_Missense_Mutation_p.L508V|LZTS1_ENST00000265801.6_Missense_Mutation_p.L567V			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	567					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCACGTGCCAGCTGCTGCAGG	0.617													g|||	19	0.00379393	0.0144	0.0	5008	,	,		18009	0.0		0.0	False		,,,				2504	0.0				p.L567V		Atlas-SNP	.											.	LZTS1	72	.	0			c.C1699G						PASS	.		VAL/LEU	46,4360	48.2+/-83.0	1,44,2158	86	87	87		1699	4.4	1	8	dbSNP_132	87	0,8600		0,0,4300	yes	missense	LZTS1	NM_021020.2	32	1,44,6458	CC,CG,GG		0.0,1.044,0.3537	probably-damaging	567/597	20107325	46,12960	2203	4300	6503	SO:0001583	missense	11178	exon3			GTGCCAGCTGCTG	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1699C>G	8.37:g.20107325G>C	ENSP00000370981:p.Leu567Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	121	71	0.586777	NM_021020	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	12	0.005494505494505495	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	g	13.50	2.257140	0.39896	0.01044	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.31769	1.59;1.59;1.48	5.28	4.4	0.53042	.	0.075319	0.53938	D	0.000043	T	0.17408	0.0418	N	0.08118	0	0.58432	D	0.99999	P;D	0.76494	0.884;0.999	B;D	0.66847	0.41;0.947	T	0.08351	-1.0726	10	0.36615	T	0.2	-20.5699	12.9504	0.58397	0.0808:0.0:0.9192:0.0	.	508;567	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	V	567;567;508;544	ENSP00000370981:L567V;ENSP00000265801:L567V;ENSP00000429263:L508V	ENSP00000265801:L567V	L	-	1	2	LZTS1	20151605	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.266000	0.51569	2.454000	0.82982	0.543000	0.68304	CTG	G|0.995;C|0.005	0.005	strong		0.617	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		C	20107325	G	C	20107325	3	2	22	1	0	0	0	0	1	0	0	0	9138	962	34	4	95	4	LZTS1	8	20107325	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70498	20107325	126256697	4699	9807										
GFRA2	2675	hgsc.bcm.edu	37	chr8	21608105	21608105	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcggcactcaccgacaCaggtggtcagtccggcacac	12	16	2	0	rs2229903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:21608105C>G	ENST00000524240.1	-	4	1439	c.789G>C	c.(787-789)ctG>ctC	p.L263L	GFRA2_ENST00000517328.1_Silent_p.L263L|GFRA2_ENST00000518077.1_Silent_p.L130L|GFRA2_ENST00000400782.4_Silent_p.L158L	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	263					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CTCACCGACACAGGTGGTCAG	0.632													C|||	380	0.0758786	0.1505	0.0187	5008	,	,		15635	0.1181		0.004	False		,,,				2504	0.046				p.L263L		Atlas-SNP	.											.	GFRA2	23	.	0			c.G789C						PASS	.	C	,,	498,3808		19,460,1674	18	20	19		474,390,789	2.8	1	8	dbSNP_131	19	59,8421		0,59,4181	no	coding-synonymous,coding-synonymous,coding-synonymous	GFRA2	NM_001165038.1,NM_001165039.1,NM_001495.4	,,	19,519,5855	GG,GC,CC		0.6958,11.5653,4.3563	,,	158/360,130/332,263/465	21608105	557,12229	2153	4240	6393	SO:0001819	synonymous_variant	2675	exon4			CCGACACAGGTGG	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.789G>C	8.37:g.21608105C>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	149	81	0.543624	NM_001495	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	CCDS47816.1																																																																																			C|0.935;G|0.065	0.065	strong		0.632	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		G	21608105	C	G	21608105	2	3	22	1	0	0	0	0	0	0	0	1	6348	465	17	4		4	GFRA2	8	21608105	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1500780	21608105	124755917	4700	9808										
NUDT18	79873	hgsc.bcm.edu	37	chr8	21965113	21965113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccacccctctgctccaTagggtcgaggccacaggcag	11	16	1	0	rs3739435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:21965113T>C	ENST00000309188.6	-	5	788	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	NUDT18_ENST00000522405.1_Missense_Mutation_p.M147V|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	224				M -> V (in Ref. 1; BAB15376/BAC85853). {ECO:0000305}.	dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CTCTGCTCCATAGGGTCGAGG	0.617													T|||	2775	0.554113	0.525	0.6614	5008	,	,		18738	0.619		0.4563	False		,,,				2504	0.5511				p.M224V		Atlas-SNP	.											.	NUDT18	13	.	0			c.A670G						PASS	.	T	VAL/MET	2182,2088		560,1062,513	60	67	65		672	-2.2	0	8	dbSNP_107	65	3870,4608		898,2074,1267	no	missense	NUDT18	NM_024815.3	21	1458,3136,1780	CC,CT,TT		45.6476,48.8993,47.4741	benign	224/324	21965113	6052,6696	2135	4239	6374	SO:0001583	missense	79873	exon5			GCTCCATAGGGTC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.670A>G	8.37:g.21965113T>C	ENSP00000307852:p.Met224Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	68	37	0.544118	NM_024815	Q8IZ75|Q9H687	Missense_Mutation	SNP	ENST00000309188.6	37		1179|1179	0.5398351648351648|0.5398351648351648	245|245	0.49796747967479676|0.49796747967479676	223|223	0.6160220994475138|0.6160220994475138	345|345	0.6031468531468531|0.6031468531468531	366|366	0.48284960422163586|0.48284960422163586	T|T	1.637|1.637	-0.517536|-0.517536	0.04171|0.04171	0.511007|0.511007	0.456476|0.456476	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|.	.|.	.|.	5.38|5.38	-2.23|-2.23	0.06930|0.06930	.|.	0.810801|.	0.11595|.	N|.	0.548297|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43540|0.43540	-0.9385|-0.9385	5|3	0.24483|.	T|.	0.36|.	-5.4957|-5.4957	4.9963|4.9963	0.14242|0.14242	0.2473:0.2275:0.0:0.5252|0.2473:0.2275:0.0:0.5252	rs3739435;rs52804017;rs60999375;rs3739435|rs3739435;rs52804017;rs60999375;rs3739435	.|.	.|.	.|.	V|C	147;224|259	.|.	ENSP00000307852:M224V|.	M|Y	-|-	1|2	0|0	NUDT18|NUDT18	22021058|22021058	0.000000|0.000000	0.05858|0.05858	0.033000|0.033000	0.17914|0.17914	0.244000|0.244000	0.25665|0.25665	-0.416000|-0.416000	0.07097|0.07097	-0.488000|-0.488000	0.06726|0.06726	-2.215000|-2.215000	0.00298|0.00298	ATG|TAT	T|0.476;C|0.524	0.524	strong		0.617	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		C	21965113	T	C	21965113	3	2	22	1	0	0	0	0	1	0	0	0	10735	1406	49	2	305	2	NUDT18	8	21965113	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	357008	21965113	124398909	4701	9809										
LGI3	203190	hgsc.bcm.edu	37	chr8	22005939	22005939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagccccgggagggcagggCctgcacctccgagaagcggg	18	14	0	1	rs559732127		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22005939C>T	ENST00000306317.2	-	8	1670	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	LGI3_ENST00000424267.2_Missense_Mutation_p.A437T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	461					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GAGGGCAGGGCCTGCACCTCC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15389	0.0		0.0	False		,,,				2504	0.0				p.A461T		Atlas-SNP	.											.	LGI3	44	.	0			c.G1381A						PASS	.						30	30	30					8																	22005939		2203	4300	6503	SO:0001583	missense	203190	exon8			GCAGGGCCTGCAC	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1381G>A	8.37:g.22005939C>T	ENSP00000302297:p.Ala461Thr	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_139278	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122032	0.37436	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.78924	-1.22;-1.22	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.062211	0.64402	D	0.000004	T	0.49372	0.1553	N	0.01686	-0.76	0.35162	D	0.770725	B;B	0.16396	0.017;0.008	B;B	0.18561	0.022;0.012	T	0.55970	-0.8056	10	0.12430	T	0.62	-31.0187	9.7807	0.40647	0.0:0.9063:0.0:0.0937	.	437;461	A5PLP2;Q8N145	.;LGI3_HUMAN	T	461;437	ENSP00000302297:A461T;ENSP00000399121:A437T	ENSP00000302297:A461T	A	-	1	0	LGI3	22061884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.203000	0.51075	2.396000	0.81511	0.561000	0.74099	GCC	.	.	none		0.657	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22005939	C	T	22005939	3	4	22	1	0	0	0	0	1	0	0	0	8753	739	26	2	269	2	LGI3	8	22005939	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40826	22005939	124358083	4702	9810										
LGI3	203190	hgsc.bcm.edu	37	chr8	22009053	22009053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaacatagtcccacttcaGgatggtgcaggcactgactc	9	13	2	1	rs35142808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22009053G>A	ENST00000306317.2	-	7	1067	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	LGI3_ENST00000424267.2_Silent_p.L236L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	260					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TCCCACTTCAGGATGGTGCAG	0.602													G|||	174	0.0347444	0.1203	0.0043	5008	,	,		19819	0.0		0.003	False		,,,				2504	0.0092				p.L260L		Atlas-SNP	.											.	LGI3	44	.	0			c.C778T						PASS	.	G		467,3939	219.4+/-237.2	32,403,1768	87	89	89		778	4.2	0.8	8	dbSNP_126	89	25,8575	17.9+/-57.8	1,23,4276	no	coding-synonymous	LGI3	NM_139278.2		33,426,6044	AA,AG,GG		0.2907,10.5992,3.7829		260/549	22009053	492,12514	2203	4300	6503	SO:0001819	synonymous_variant	203190	exon7			ACTTCAGGATGGT	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.778C>T	8.37:g.22009053G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	113	55	0.486726	NM_139278	A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	CCDS6025.1																																																																																			G|0.968;A|0.032	0.032	strong		0.602	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			A	22009053	G	A	22009053	2	1	22	1	0	0	0	0	0	0	0	1	8753	991	35	2		2	LGI3	8	22009053	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3114	22009053	124354969	4703	9811										
BMP1	649	hgsc.bcm.edu	37	chr8	22059413	22059413	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcagtggcttcgtcctCcatgacaacaagcacgactg	10	14	0	1	rs28710878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22059413C>G	ENST00000306385.5	+	16	2875	c.2205C>G	c.(2203-2205)ctC>ctG	p.L735L	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	735	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCTTCGTCCTCCATGACAACA	0.587													C|||	171	0.0341454	0.1218	0.0144	5008	,	,		20500	0.0		0.0	False		,,,				2504	0.0				p.L735L		Atlas-SNP	.											.	BMP1	131	.	0			c.C2205G						PASS	.	C		457,3949	210.8+/-231.2	22,413,1768	97	69	78		2205	-2	0.9	8	dbSNP_125	78	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	BMP1	NM_006129.4		22,415,6066	GG,GC,CC		0.0233,10.3722,3.5291		735/987	22059413	459,12547	2203	4300	6503	SO:0001819	synonymous_variant	649	exon16			CGTCCTCCATGAC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2205C>G	8.37:g.22059413C>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																			C|0.970;G|0.030	0.030	strong		0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22059413	C	G	22059413	2	3	22	1	0	0	0	0	0	0	0	1	1456	842	30	4		4	BMP1	8	22059413	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50360	22059413	124304609	4704	9812										
BMP1	649	hgsc.bcm.edu	37	chr8	22067070	22067070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgagtgggtcattgtggcCgaggaaggctacggcgtgga	19	6	1	1	rs4076619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22067070C>T	ENST00000306385.5	+	19	3358	c.2688C>T	c.(2686-2688)gcC>gcT	p.A896A	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	896	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCATTGTGGCCGAGGAAGGCT	0.587													C|||	771	0.153954	0.4584	0.0375	5008	,	,		18697	0.1042		0.0	False		,,,				2504	0.0348				p.A896A		Atlas-SNP	.											.	BMP1	131	.	0			c.C2688T						PASS	.	C		1738,2668	519.4+/-370.0	353,1032,818	294	219	245		2688	-9.5	0.2	8	dbSNP_108	245	12,8588	7.7+/-29.5	0,12,4288	no	coding-synonymous	BMP1	NM_006129.4		353,1044,5106	TT,TC,CC		0.1395,39.4462,13.4553		896/987	22067070	1750,11256	2203	4300	6503	SO:0001819	synonymous_variant	649	exon19			TGTGGCCGAGGAA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2688C>T	8.37:g.22067070C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	169	168	0.994083	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																			A|0.000;C|0.871;G|0.000;T|0.129	0.129	strong		0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22067070	C	T	22067070	2	4	22	1	0	0	0	0	0	0	0	1	1456	639	23	1		1	BMP1	8	22067070	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7657	22067070	124296952	4705	9813										
PHYHIP	9796	hgsc.bcm.edu	37	chr8	22084503	22084503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcaccgtcatgggcagCggcactgccttggccacgag	12	16	2	0	rs11547656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22084503C>T	ENST00000321613.3	-	4	657	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PHYHIP_ENST00000454243.2_Silent_p.P67P	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	67	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCATGGGCAGCGGCACTGCCT	0.622													C|||	1615	0.322484	0.2398	0.3401	5008	,	,		20345	0.2044		0.4304	False		,,,				2504	0.4325				p.P67P		Atlas-SNP	.											.	PHYHIP	24	.	0			c.G201A						PASS	.	C	,	1098,3244		154,790,1227	51	60	57		201,201	-11.4	0.4	8	dbSNP_120	57	3514,5002		728,2058,1472	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	882,2848,2699	TT,TC,CC		41.2635,25.2879,35.8687	,	67/331,67/331	22084503	4612,8246	2171	4258	6429	SO:0001819	synonymous_variant	9796	exon3			GGGCAGCGGCACT	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.201G>A	8.37:g.22084503C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	49	15	0.306122	NM_014759	D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																			T|0.357;G|0.000;C|0.642	0.357	strong		0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		T	22084503	C	T	22084503	2	4	22	1	0	0	0	0	0	0	0	1	11866	755	27	1		1	PHYHIP	8	22084503	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17433	22084503	124279519	4706	9814										
POLR3D	661	hgsc.bcm.edu	37	chr8	22107707	22107707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggcaaggtgactctggaCgtgaccatgggaactgcctg	15	9	1	2	rs34435413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22107707C>T	ENST00000397802.4	+	7	1256	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	POLR3D_ENST00000306433.4_Silent_p.D347D			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	347					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGACTCTGGACGTGACCATGG	0.567													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19108	0.0		0.0	False		,,,				2504	0.0				p.D347D		Atlas-SNP	.											.	POLR3D	26	.	0			c.C1041T						PASS	.	C		78,4328	68.1+/-105.8	0,78,2125	82	73	76		1041	-10.8	0.5	8	dbSNP_126	76	0,8600		0,0,4300	no	coding-synonymous	POLR3D	NM_001722.2		0,78,6425	TT,TC,CC		0.0,1.7703,0.5997		347/399	22107707	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	661	exon8			TCTGGACGTGACC	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1041C>T	8.37:g.22107707C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	112	52	0.464286	NM_001722	Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	CCDS34858.1																																																																																			C|0.993;T|0.007	0.007	strong		0.567	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		T	22107707	C	T	22107707	2	4	22	1	0	0	0	0	0	0	0	1	12231	535	19	1		1	POLR3D	8	22107707	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23204	22107707	124256315	4707	9815										
SLC39A14	23516	hgsc.bcm.edu	37	chr8	22273687	22273687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctgagcgacggcctccaTaatttcatcgatggcctggc	10	13	2	1	rs6558052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22273687T>C	ENST00000381237.1	+	7	1160	c.1041T>C	c.(1039-1041)caT>caC	p.H347H	SLC39A14_ENST00000359741.5_Silent_p.H347H|SLC39A14_ENST00000240095.6_Silent_p.H347H|SLC39A14_ENST00000289952.5_Silent_p.H347H	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	347					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ACGGCCTCCATAATTTCATCG	0.557													C|||	1434	0.286342	0.7247	0.121	5008	,	,		21035	0.1915		0.0517	False		,,,				2504	0.1503				p.H347H		Atlas-SNP	.											SLC39A14_ENST00000381237,NS,malignant_melanoma,+2,2	SLC39A14	59	2	0			c.T1041C						PASS	.	C	,,,	2620,1786	527.4+/-372.1	791,1038,374	103	96	99		1041,1041,1041,1041	4.2	1	8	dbSNP_116	99	465,8135	798.8+/-407.4	10,445,3845	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A14	NM_001128431.2,NM_001135153.1,NM_001135154.1,NM_015359.4	,,,	801,1483,4219	CC,CT,TT		5.407,40.5356,23.7198	,,,	347/493,347/493,347/482,347/493	22273687	3085,9921	2203	4300	6503	SO:0001819	synonymous_variant	23516	exon7			CCTCCATAATTTC	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1041T>C	8.37:g.22273687T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	164	75	0.457317	NM_001135153	A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	CCDS47823.1																																																																																			T|0.748;C|0.252	0.252	strong		0.557	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		C	22273687	T	C	22273687	2	2	22	1	0	0	0	0	0	0	0	1	14617	1403	49	2		2	SLC39A14	8	22273687	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	165980	22273687	124090335	4708	9816										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22472473	22472473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtaccgccatccgctgtgcGcaggcccagactggcattga	12	15	0	2	rs112997942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22472473G>A	ENST00000308511.4	+	11	1413	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	CCAR2_ENST00000389279.3_Silent_p.A388A|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.A63A			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	388					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCGCTGTGCGCAGGCCCAGA	0.627													G|||	37	0.00738818	0.0265	0.0029	5008	,	,		20145	0.0		0.0	False		,,,				2504	0.0				p.A388A		Atlas-SNP	.											.	KIAA1967	72	.	0			c.G1164A						PASS	.	G		87,4317	67.0+/-104.6	0,87,2115	46	34	38		1164	-11.1	0	8	dbSNP_132	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1967	NM_021174.5		0,88,6414	AA,AG,GG		0.0116,1.9755,0.6767		388/924	22472473	88,12916	2202	4300	6502	SO:0001819	synonymous_variant	57805	exon11			CTGTGCGCAGGCC	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1164G>A	8.37:g.22472473G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	9.159	1.018179	0.19355	0.019755	1.16E-4	ENSG00000158941	ENST00000520738	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.40931	D	0.984397	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-11.8395	5.7525	0.18154	0.4761:0.2759:0.182:0.066	.	.	.	.	H	80	.	.	R	+	2	0	KIAA1967	22528418	0.000000	0.05858	0.010000	0.14722	0.924000	0.55760	-2.064000	0.01387	-2.862000	0.00326	-0.793000	0.03317	CGC	G|0.993;A|0.007	0.007	strong		0.627	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		A	22472473	G	A	22472473	2	1	22	1	0	0	0	0	0	0	0	1	8265	1074	38	1		1	KIAA1967	8	22472473	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	198786	22472473	123891549	4709	9817										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22473281	22473281	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaactccagaggccacCacacagcaggaaacggacac	10	14	0	2	rs6558166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22473281C>G	ENST00000308511.4	+	13	1713	c.1464C>G	c.(1462-1464)acC>acG	p.T488T	CCAR2_ENST00000389279.3_Silent_p.T488T|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.T163T			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	488					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CAGAGGCCACCACACAGCAGG	0.582													C|||	683	0.136382	0.3843	0.0533	5008	,	,		17798	0.0218		0.0338	False		,,,				2504	0.0838				p.T488T		Atlas-SNP	.											.	KIAA1967	72	.	0			c.C1464G						PASS	.	C		1403,3003	461.1+/-352.8	225,953,1025	102	109	106		1464	-7.3	0	8	dbSNP_116	106	281,8319	104.6+/-165.6	5,271,4024	no	coding-synonymous	KIAA1967	NM_021174.5		230,1224,5049	GG,GC,CC		3.2674,31.8429,12.9479		488/924	22473281	1684,11322	2203	4300	6503	SO:0001819	synonymous_variant	57805	exon13			GGCCACCACACAG	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1464C>G	8.37:g.22473281C>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	243	0.11126373626373626	187	0.3800813008130081	19	0.052486187845303865	8	0.013986013986013986	29	0.03825857519788918	C	1.026	-0.683484	0.03353	0.318429	0.032674	ENSG00000158941	ENST00000520738	.	.	.	6.07	-7.32	0.01436	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.29027	-1.0025	3	.	.	.	-2.2864	8.8665	0.35289	0.0:0.1723:0.2147:0.613	rs6558166;rs60027725;rs6558166	.	.	.	R	180	.	.	P	+	2	0	KIAA1967	22529226	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-2.745000	0.00796	-1.379000	0.02118	0.655000	0.94253	CCA	C|0.882;G|0.118	0.118	strong		0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		G	22473281	C	G	22473281	2	3	22	1	0	0	0	0	0	0	0	1	8265	581	21	4		4	KIAA1967	8	22473281	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	808	22473281	123890741	4710	9818										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22473646	22473646	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgaacctgagaaggaggAggcggccaaggaagaagcca	15	9	0	3	rs143150726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22473646A>C	ENST00000308511.4	+	14	1979	c.1730A>C	c.(1729-1731)gAg>gCg	p.E577A	CCAR2_ENST00000389279.3_Missense_Mutation_p.E577A|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Missense_Mutation_p.E252A			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	577					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GAGAAGGAGGAGGCGGCCAAG	0.532													A|||	11	0.00219649	0.0045	0.0	5008	,	,		17062	0.003		0.0	False		,,,				2504	0.002				p.E577A		Atlas-SNP	.											.	KIAA1967	72	.	0			c.A1730C						PASS	.	A	ALA/GLU	14,4392	22.3+/-47.3	0,14,2189	91	87	88		1730	4.2	1	8	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1967	NM_021174.5	107	0,15,6488	CC,CA,AA		0.0116,0.3177,0.1153	probably-damaging	577/924	22473646	15,12991	2203	4300	6503	SO:0001583	missense	57805	exon14			AGGAGGAGGCGGC	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1730A>C	8.37:g.22473646A>C	ENSP00000310670:p.Glu577Ala	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	116	44	0.37931	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	5	0.0022893772893772895	2	0.0040650406504065045	0	0.0	3	0.005244755244755245	0	0.0	A	15.25	2.777147	0.49786	0.003177	1.16E-4	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861	T;T;T	0.34667	1.37;1.37;1.35	5.41	4.24	0.50183	.	0.332894	0.27991	N	0.017029	T	0.16557	0.0398	N	0.19112	0.55	0.37034	D	0.896847	B;B	0.14805	0.011;0.007	B;B	0.16722	0.016;0.004	T	0.09840	-1.0656	10	0.23302	T	0.38	-22.2627	10.6868	0.45848	0.8393:0.1607:0.0:0.0	.	252;577	G3V119;Q8N163	.;K1967_HUMAN	A	577;577;252	ENSP00000310670:E577A;ENSP00000373930:E577A;ENSP00000429773:E252A	ENSP00000310670:E577A	E	+	2	0	KIAA1967	22529591	1.000000	0.71417	0.972000	0.41901	0.846000	0.48090	4.106000	0.57804	1.041000	0.40125	0.460000	0.39030	GAG	A|0.998;C|0.002	0.002	strong		0.532	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		C	22473646	A	C	22473646	3	2	22	1	0	0	0	0	1	0	0	0	8265	304	11	5	1780	5	KIAA1967	8	22473646	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	365	22473646	123890376	4711	9819										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22476717	22476717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccaataagacgctggcggCagagatgcaggagctgcgag	15	9	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22476717C>T	ENST00000308511.4	+	20	2825	c.2576C>T	c.(2575-2577)gCa>gTa	p.A859V	BIN3_ENST00000519335.1_5'Flank|CCAR2_ENST00000389279.3_Missense_Mutation_p.A859V|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Missense_Mutation_p.A534V			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	859	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										ACGCTGGCGGCAGAGATGCAG	0.642																																					p.A859V		Atlas-SNP	.											.	KIAA1967	72	.	0			c.C2576T						PASS	.						16	16	16					8																	22476717		2197	4296	6493	SO:0001583	missense	57805	exon20			TGGCGGCAGAGAT	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2576C>T	8.37:g.22476717C>T	ENSP00000310670:p.Ala859Val	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	107	51	0.476636	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.646522|2.646522	0.47258|0.47258	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	T;T;T|.	0.00453|.	7.33;7.33;7.33|.	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	0.147376|.	0.43260|.	D|.	0.000594|.	T|.	0.30916|.	0.0780|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.09377|.	0.004;0.001|.	T|.	0.19160|.	-1.0314|.	10|.	0.36615|.	T|.	0.2|.	-8.609|-8.609	9.9844|9.9844	0.41832|0.41832	0.0:0.9094:0.0:0.0906|0.0:0.9094:0.0:0.0906	.|.	534;859|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	V|X	859;859;534|551	ENSP00000310670:A859V;ENSP00000373930:A859V;ENSP00000429773:A534V|.	ENSP00000310670:A859V|.	A|Q	+|+	2|1	0|0	KIAA1967|KIAA1967	22532662|22532662	0.011000|0.011000	0.17503|0.17503	0.022000|0.022000	0.16811|0.16811	0.782000|0.782000	0.44232|0.44232	1.737000|1.737000	0.38197|0.38197	1.534000|1.534000	0.49203|0.49203	0.655000|0.655000	0.94253|0.94253	GCA|CAG	.	.	none		0.642	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		T	22476717	C	T	22476717	3	4	22	1	0	0	0	0	1	0	0	0	8265	710	25	2	2650	2	KIAA1967	8	22476717	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3071	22476717	123887305	4712	9820										
BIN3	55909	hgsc.bcm.edu	37	chr8	22481449	22481449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctcggatgagggactcAaagctgggctggaagtagtc	16	7	1	2	rs1871900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22481449A>G	ENST00000276416.6	-	8	662	c.594T>C	c.(592-594)ttT>ttC	p.F198F	BIN3_ENST00000399977.4_Silent_p.F150F|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.F144F	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	198	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGAGGGACTCAAAGCTGGGCT	0.622													a|||	2490	0.497204	0.6067	0.3977	5008	,	,		15483	0.3978		0.4394	False		,,,				2504	0.5818				p.F198F		Atlas-SNP	.											.	BIN3	16	.	0			c.T594C						PASS	.	G		2138,1810		583,972,419	21	27	25		594	-11	0.2	8	dbSNP_92	25	3451,4843		723,2005,1419	no	coding-synonymous	BIN3	NM_018688.4		1306,2977,1838	GG,GA,AA		41.6084,45.846,45.6543		198/254	22481449	5589,6653	1974	4147	6121	SO:0001819	synonymous_variant	55909	exon8			GGACTCAAAGCTG		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.594T>C	8.37:g.22481449A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	92	91	0.98913	NM_018688	Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	CCDS47825.1																																																																																			G|0.475;C|0.000;A|0.525	0.475	strong		0.622	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			G	22481449	A	G	22481449	2	3	22	1	0	0	0	0	0	0	0	1	1434	127	5	2		2	BIN3	8	22481449	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4732	22481449	123882573	4713	9821										
PEBP4	157310	hgsc.bcm.edu	37	chr8	22570908	22570908	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcagctatctccgcctggTttttgtgcttgggctcgctg					rs35121552|rs398102329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22570908delT	ENST00000256404.6	-	7	750	c.659delA	c.(658-660)aacfs	p.N220fs	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	220						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CTCCGCCTGGTTTTTGTGCTT	0.602													TTTT|TTTTT|TTTT|insertion	1434	0.286342	0.2413	0.4582	5008	,	,		16468	0.2996		0.3231	False		,,,				2504	0.1738				p.N220fs		Pindel,Atlas-Indel	.											.	PEBP4	23	.	0			c.660delC						PASS	.			1065,2683		185,695,994	54	57	56			-4.5	0	8	dbSNP_130	78	2573,5375		433,1707,1834	no	frameshift	PEBP4	NM_144962.2		618,2402,2828	A1A1,A1R,RR		32.3729,28.4152,31.1047			22570908	3638,8058	1899	4079	5978	SO:0001589	frameshift_variant	157310	exon7			.	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.659delA	8.37:g.22570908delT	ENSP00000256404:p.Asn220fs	Somatic	158	.	.		WXS	Illumina HiSeq	Phase_I	146	38	0.26	NM_144962	Q5EVA1|Q8WW74	Frame_Shift_Del	DEL	ENST00000256404.6	37	CCDS43724.1																																																																																			T|0.680;-|0.320	0.320	strong		0.602	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		-	22570908	T	-	22570908	7	5	22	1	0	1	0	1	0	0	0	0	11714	1725	60	0	28	0	PEBP4	8	22570908	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	89459	22570908	123793114	4714	9822										
TNFRSF10B	8795	hgsc.bcm.edu	37	chr8	22926313	22926313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagggtcttggggacccggGgcccaggcctggctccccgc	16	16	1	0	rs1129424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22926313G>A	ENST00000276431.4	-	1	379	c.95C>T	c.(94-96)cCc>cTc	p.P32L	TNFRSF10B_ENST00000542226.1_5'UTR|RP11-875O11.3_ENST00000520840.1_RNA|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P32L|RP11-875O11.2_ENST00000501897.1_RNA	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	32			P -> L (in dbSNP:rs1129424). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9242611, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGACCCGGGGCCCAGGCCT	0.736													A|||	3753	0.749401	0.7753	0.7493	5008	,	,		13116	0.9107		0.5924	False		,,,				2504	0.7096				p.P32L	GBM(94;1064 1342 1839 21060 42553)	Atlas-SNP	.											.	TNFRSF10B	34	.	0			c.C95T						PASS	.	A	LEU/PRO,LEU/PRO	3291,1103		1260,771,166	13	16	15		95,95	0.1	0	8	dbSNP_86	15	5180,3384		1603,1974,705	yes	missense,missense	TNFRSF10B	NM_003842.4,NM_147187.2	98,98	2863,2745,871	AA,AG,GG		39.5142,25.1024,34.6273	benign,benign	32/441,32/412	22926313	8471,4487	2197	4282	6479	SO:0001583	missense	8795	exon1			ACCCGGGGCCCAG	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.95C>T	8.37:g.22926313G>A	ENSP00000276431:p.Pro32Leu	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_147187	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	1624	0.7435897435897436	384	0.7804878048780488	269	0.7430939226519337	520	0.9090909090909091	451	0.5949868073878628	a	0.028	-1.358005	0.01245	0.748976	0.604858	ENSG00000120889	ENST00000276431;ENST00000347739	T;D	0.83163	-1.44;-1.69	1.32	0.126	0.14722	.	0.377447	0.15516	N	0.258310	T	0.00012	0.0000	N	0.00321	-1.65	0.51482	P	7.900000000005125E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30851	-0.9964	9	0.07482	T	0.82	.	4.2483	0.10682	0.4549:0.0:0.5451:0.0	rs1129424;rs1805039;rs3187295;rs17088926;rs17855358;rs57417067	32;32	O14763;O14763-2	TR10B_HUMAN;.	L	32	ENSP00000276431:P32L;ENSP00000317859:P32L	ENSP00000276431:P32L	P	-	2	0	TNFRSF10B	22982258	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.111000	0.10807	-0.291000	0.09012	-0.521000	0.04368	CCC	G|0.295;A|0.705	0.705	strong		0.736	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		A	22926313	G	A	22926313	3	1	22	1	0	0	0	0	1	0	0	0	16278	1232	43	2	1263	2	TNFRSF10B	8	22926313	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	355405	22926313	123437709	4715	9823										
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22960654	22960654	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggcccggatccccaagaCcctaaagttcgtcgtcgtca					rs10107826|rs374790272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22960654C>T	ENST00000356864.3	+	1	552	c.20C>T	c.(19-21)aCc>aTc	p.T7I	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.T47I	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	7					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATCCCCAAGACCCTAAAGTTC	0.711													C|||	208	0.0415335	0.149	0.0101	5008	,	,		14783	0.0		0.004	False		,,,				2504	0.0				p.T7I		Atlas-SNP	.											.	TNFRSF10C	30	.	0			c.C20T						PASS	.	C	ILE/THR	443,3961	170.9+/-201.2	25,393,1784	79	59	66		20	0.6	0	8	dbSNP_119	66	12,8584	5.7+/-21.5	0,12,4286	yes	missense	TNFRSF10C	NM_003841.3	89	25,405,6070	TT,TC,CC		0.1396,10.059,3.5	probably-damaging	7/260	22960654	455,12545	2202	4298	6500	SO:0001583	missense	8794	exon1			CCAAGACCCTAAA	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.20C>T	8.37:g.22960654C>T	ENSP00000349324:p.Thr7Ile	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	56	0.02564102564102564	50	0.1016260162601626	4	0.011049723756906077	0	0.0	2	0.002638522427440633	C	4.995	0.184796	0.09495	0.10059	0.001396	ENSG00000173535	ENST00000397703;ENST00000356864;ENST00000544885	T	0.62364	0.03	1.76	0.639	0.17747	.	2.630870	0.02547	U	0.095275	T	0.01627	0.0052	N	0.19112	0.55	0.52099	P	5.100000000002325E-5	B	0.21225	0.053	B	0.06405	0.002	T	0.08186	-1.0734	9	0.52906	T	0.07	.	4.4054	0.11407	0.0:0.717:0.0:0.283	rs10107826;rs10107826	7	O14798	TR10C_HUMAN	I	47;7;7	ENSP00000349324:T7I	ENSP00000349324:T7I	T	+	2	0	TNFRSF10C	23016599	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.737000	0.04877	-0.010000	0.14271	0.205000	0.17691	ACC	C|0.958;T|0.042	0.042	strong		0.711	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			T	22960654	C	T	22960654	3	4	22	1	0	0	0	0	1	0	0	0	16279	507	18	2	22	2	TNFRSF10C	8	22960654	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34341	22960654	123403368	4716	9824	204	2								
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22960655	22960655	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcccggatccccaagacCctaaagttcgtcgtcgtcat					rs10107827|rs374790272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:22960655C>T	ENST00000356864.3	+	1	553	c.21C>T	c.(19-21)acC>acT	p.T7T	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000397703.2_Silent_p.T47T|TNFRSF10C_ENST00000540813.1_5'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	7					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCCCCAAGACCCTAAAGTTCG	0.716													C|||	208	0.0415335	0.149	0.0101	5008	,	,		14742	0.0		0.004	False		,,,				2504	0.0				p.T7T		Atlas-SNP	.											.	TNFRSF10C	30	.	0			c.C21T						PASS	.	C		438,3966	169.8+/-200.3	25,388,1789	80	59	66		21	0.8	0	8	dbSNP_119	66	12,8586	5.0+/-18.6	0,12,4287	no	coding-synonymous	TNFRSF10C	NM_003841.3		25,400,6076	TT,TC,CC		0.1396,9.9455,3.461		7/260	22960655	450,12552	2202	4299	6501	SO:0001819	synonymous_variant	8794	exon1			CAAGACCCTAAAG	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.21C>T	8.37:g.22960655C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Silent	SNP	ENST00000356864.3	37	CCDS6037.1																																																																																			.	.	alt		0.716	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			T	22960655	C	T	22960655	2	4	22	1	0	0	0	0	0	0	0	1	16279	610	22	2		2	TNFRSF10C	8	22960655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	22960655	123403367	4717	9825	204	2								
TNFRSF10D	8793	hgsc.bcm.edu	37	chr8	23021346	23021346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgaacttaaggatcttggGgtccaggagccatggtctgg	15	8	2	0	rs11135703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:23021346G>A	ENST00000312584.3	-	1	197	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	35			P -> S (in TRAIL-R4-B; dbSNP:rs11135703). {ECO:0000269|PubMed:9430226}.		apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGGATCTTGGGGTCCAGGAGC	0.667											OREG0018632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1302	0.259984	0.2035	0.33	5008	,	,		16479	0.5655		0.1133	False		,,,				2504	0.1227				p.P35S		Atlas-SNP	.											.	TNFRSF10D	21	.	0			c.C103T						PASS	.	G	SER/PRO	925,3481	329.1+/-300.9	90,745,1368	48	38	41		103	0.4	0	8	dbSNP_120	41	965,7635	196.3+/-241.3	55,855,3390	yes	missense	TNFRSF10D	NM_003840.3	74	145,1600,4758	AA,AG,GG		11.2209,20.9941,14.5318	possibly-damaging	35/387	23021346	1890,11116	2203	4300	6503	SO:0001583	missense	8793	exon1			TCTTGGGGTCCAG	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.103C>T	8.37:g.23021346G>A	ENSP00000310263:p.Pro35Ser	Somatic	80	0	0	760	WXS	Illumina HiSeq	Phase_I	69	35	0.507246	NM_003840	B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	CCDS6038.1	601	0.2751831501831502	90	0.18292682926829268	103	0.2845303867403315	316	0.5524475524475524	92	0.12137203166226913	G	12.01	1.810184	0.32053	0.209941	0.112209	ENSG00000173530	ENST00000312584	D	0.81908	-1.55	1.3	0.373	0.16178	.	0.837879	0.09789	U	0.755623	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	D	0.69078	0.997	P	0.60789	0.879	T	0.35500	-0.9786	9	0.28530	T	0.3	.	3.6311	0.08131	0.2621:0.0:0.7379:0.0	rs11135703;rs58794799	35	Q9UBN6	TR10D_HUMAN	S	35	ENSP00000310263:P35S	ENSP00000310263:P35S	P	-	1	0	TNFRSF10D	23077291	0.007000	0.16637	0.001000	0.08648	0.006000	0.05464	0.836000	0.27545	0.110000	0.17919	0.462000	0.41574	CCC	G|0.820;A|0.180	0.180	strong		0.667	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			A	23021346	G	A	23021346	3	1	22	1	0	0	0	0	1	0	0	0	16280	1232	43	2	1093	2	TNFRSF10D	8	23021346	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60691	23021346	123342676	4718	9826										
LOXL2	4017	hgsc.bcm.edu	37	chr8	23174481	23174481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctgagcaggcaactccGgccccgtactgcactccgcc	9	18	1	1	rs7357444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:23174481G>A	ENST00000389131.3	-	9	1986	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	539	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGGCAACTCCGGCCCCGTACT	0.657													G|||	366	0.0730831	0.1286	0.1412	5008	,	,		16494	0.0595		0.0129	False		,,,				2504	0.0256				p.A539A		Atlas-SNP	.											.	LOXL2	97	.	0			c.C1617T						PASS	.	G		558,3846	250.0+/-257.2	42,474,1686	51	46	48		1617	-6.8	0.8	8	dbSNP_116	48	43,8557	27.9+/-77.7	0,43,4257	no	coding-synonymous	LOXL2	NM_002318.2		42,517,5943	AA,AG,GG		0.5,12.6703,4.6217		539/775	23174481	601,12403	2202	4300	6502	SO:0001819	synonymous_variant	4017	exon9			AACTCCGGCCCCG	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1617C>T	8.37:g.23174481G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	CCDS34864.1																																																																																			G|0.949;A|0.051	0.051	strong		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			A	23174481	G	A	23174481	2	1	22	1	0	0	0	0	0	0	0	1	8900	1103	39	1		1	LOXL2	8	23174481	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153135	23174481	123189541	4719	9827										
ENTPD4	9583	hgsc.bcm.edu	37	chr8	23299225	23299225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaatgttaacttccacaaCggcctcatcatctagaaaga	7	10	3	2	rs34849865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:23299225C>T	ENST00000358689.4	-	8	974	c.739G>A	c.(739-741)Gtt>Att	p.V247I	ENTPD4_ENST00000356206.6_Missense_Mutation_p.V247I|ENTPD4_ENST00000417069.2_Missense_Mutation_p.V247I	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	247					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTTCCACAACGGCCTCATCA	0.473													C|||	26	0.00519169	0.0197	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.0				p.V247I		Atlas-SNP	.											.	ENTPD4	56	.	0			c.G739A						PASS	.	C	ILE/VAL,ILE/VAL	101,4305	81.9+/-120.4	1,99,2103	65	56	59		739,739	3.1	0.4	8	dbSNP_126	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ENTPD4	NM_001128930.2,NM_004901.4	29,29	1,101,6401	TT,TC,CC		0.0233,2.2923,0.7919	benign,benign	247/609,247/617	23299225	103,12903	2203	4300	6503	SO:0001583	missense	9583	exon8			CCACAACGGCCTC	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.739G>A	8.37:g.23299225C>T	ENSP00000351520:p.Val247Ile	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	59	39	0.661017	NM_004901	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	12.07	1.826131	0.32237	0.022923	2.33E-4	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.14144	2.57;2.53;2.58	5.87	3.1	0.35709	.	0.431567	0.26307	N	0.025140	T	0.05686	0.0149	L	0.49126	1.545	0.31429	N	0.673388	B;B;B	0.13594	0.008;0.003;0.003	B;B;B	0.15870	0.014;0.003;0.005	T	0.12192	-1.0557	10	0.25751	T	0.34	-13.4993	8.0326	0.30474	0.0:0.7229:0.1325:0.1446	rs34849865	247;247;247	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	I	247	ENSP00000348536:V247I;ENSP00000351520:V247I;ENSP00000408573:V247I	ENSP00000348536:V247I	V	-	1	0	ENTPD4	23355170	0.005000	0.15991	0.412000	0.26496	0.832000	0.47134	0.266000	0.18534	0.385000	0.24970	0.655000	0.94253	GTT	C|0.993;T|0.007	0.007	strong		0.473	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		T	23299225	C	T	23299225	3	4	22	1	0	0	0	0	1	0	0	0	5141	536	19	1	1135	1	ENTPD4	8	23299225	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124744	23299225	123064797	4720	9828										
SLC25A37	51312	hgsc.bcm.edu	37	chr8	23429093	23429093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggctggccggggccctcGccgcggccgccacgaccccc	16	21	0	0	rs116050502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:23429093G>T	ENST00000519973.1	+	4	940	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	248					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CGGGGCCCTCGCCGCGGCCGC	0.662													G|||	33	0.00658946	0.025	0.0	5008	,	,		12709	0.0		0.0	False		,,,				2504	0.0				p.A248S		Atlas-SNP	.											.	SLC25A37	27	.	0			c.G742T						PASS	.	G	SER/ALA	93,3715		1,91,1812	22	26	25		742	5.8	0.2	8	dbSNP_132	25	1,8197		0,1,4098	yes	missense	SLC25A37	NM_016612.2	99	1,92,5910	TT,TG,GG		0.0122,2.4422,0.7829	possibly-damaging	248/339	23429093	94,11912	1904	4099	6003	SO:0001583	missense	51312	exon4			GCCCTCGCCGCGG	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.742G>T	8.37:g.23429093G>T	ENSP00000429200:p.Ala248Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	65	40	0.615385	NM_016612	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	CCDS47828.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	20.5	3.994188	0.74703	0.024422	1.22E-4	ENSG00000147454	ENST00000519973	T	0.79653	-1.29	5.8	5.8	0.92144	Mitochondrial carrier domain (2);	0.049561	0.85682	D	0.000000	T	0.80149	0.4570	L	0.54965	1.715	0.58432	D	0.999999	D	0.58970	0.984	D	0.69479	0.964	D	0.84394	0.0556	10	0.66056	D	0.02	-8.3551	18.6148	0.91299	0.0:0.0:1.0:0.0	.	248	Q9NYZ2	MFRN1_HUMAN	S	248	ENSP00000429200:A248S	ENSP00000429200:A248S	A	+	1	0	SLC25A37	23485038	1.000000	0.71417	0.214000	0.23707	0.949000	0.60115	5.096000	0.64535	2.740000	0.93945	0.650000	0.86243	GCC	G|0.994;T|0.006	0.006	strong		0.662	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		T	23429093	G	T	23429093	3	4	22	1	0	0	0	0	1	0	0	0	14501	1087	38	4	756	4	SLC25A37	8	23429093	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129868	23429093	122934929	4721	9829										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24184088	24184088	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaacagaacttgctggaacGactgtgggtcttgcatttat	11	8	1	1	rs113950884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24184088G>T	ENST00000265769.4	+	10	1022	c.912G>T	c.(910-912)acG>acT	p.T304T	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.T51T|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.T304T|ADAM28_ENST00000540823.1_Silent_p.T71T	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTGCTGGAACGACTGTGGGTC	0.348													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0				p.T304T	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.G912T						PASS	.	G	,	20,4386	27.2+/-55.0	0,20,2183	316	276	289		912,912	-11	0	8	dbSNP_132	289	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADAM28	NM_014265.4,NM_021777.3	,	0,20,6483	TT,TG,GG		0.0,0.4539,0.1538	,	304/776,304/541	24184088	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	10863	exon10			TGGAACGACTGTG	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.912G>T	8.37:g.24184088G>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	216	106	0.490741	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																			G|0.998;T|0.002	0.002	strong		0.348	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24184088	G	T	24184088	2	4	22	1	0	0	0	0	0	0	0	1	246	1045	37	4		4	ADAM28	8	24184088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	754995	24184088	122179934	4722	9830										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24184128	24184129	+	In_Frame_Ins	INS	-	-	ATC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctacaatgtgttctccttINSattctgttggcgttgttcag					rs111491080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24184128_24184129insATC	ENST00000265769.4	+	10	1062_1063	c.952_953insATC	c.(952-954)tat>tATCat	p.318_319insH	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_In_Frame_Ins_p.65_66insH|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_In_Frame_Ins_p.85_86insH|ADAM28_ENST00000437154.2_In_Frame_Ins_p.318_319insH	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	318	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGTTCTCCTTATTCTGTTGGC	0.332														3	0.000599042	0.0023	0.0	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.0				p.Y318delinsYH	NSCLC(193;488 2149 22258 34798 40734)	Pindel,Atlas-Indel	.											.	ADAM28	100	.	0			c.952_953insATC						PASS	.		,	20,4244		0,20,2112					,	4.3	1		dbSNP_132	294	0,8252		0,0,4126	no	coding,coding	ADAM28	NM_021777.3,NM_014265.4	,	0,20,6238	A1A1,A1R,RR		0.0,0.469,0.1598	,	,		20,12496				SO:0001652	inframe_insertion	10863	exon10			.	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	Exception_encountered	8.37:g.24184128_24184129insATC	ENSP00000265769:p.Tyr318_Ser319insHis	Somatic	269	.	.		WXS	Illumina HiSeq	Phase_I	282	83	0.294	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	In_Frame_Ins	INS	ENST00000265769.4	37	CCDS34865.1																																																																																			-|0.500;ATC|0.500	0.500	weak		0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		ATC	24184129	-	ATC	24184128	7	5	22	1	0	1	1	0	0	0	0	0	246	1754	61	0	990	0	ADAM28	8	24184128	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	40	24184128	122179894	4723	9831										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24199218	24199218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatttgatcctgaagacaCaagtcaagaaataggcatgg	9	7	1	4	rs36041430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24199218C>A	ENST00000265769.4	+	16	1888	c.1778C>A	c.(1777-1779)aCa>aAa	p.T593K	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.T340K|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	593	Cys-rich.		T -> K (in dbSNP:rs36041430).		spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTGAAGACACAAGTCAAGAA	0.413													C|||	489	0.0976438	0.1929	0.0202	5008	,	,		12518	0.1012		0.0298	False		,,,				2504	0.09				p.T593K	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.C1778A						PASS	.	C	LYS/THR	766,3640	310.8+/-291.8	75,616,1512	205	194	198		1778	-11.7	0	8	dbSNP_126	198	239,8361	95.6+/-157.4	3,233,4064	yes	missense	ADAM28	NM_014265.4	78	78,849,5576	AA,AC,CC		2.7791,17.3854,7.7272	benign	593/776	24199218	1005,12001	2203	4300	6503	SO:0001583	missense	10863	exon16			AAGACACAAGTCA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1778C>A	8.37:g.24199218C>A	ENSP00000265769:p.Thr593Lys	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	164	95	0.579268	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	201|201	0.09203296703296704|0.09203296703296704	117|117	0.23780487804878048|0.23780487804878048	6|6	0.016574585635359115|0.016574585635359115	53|53	0.09265734265734266|0.09265734265734266	25|25	0.032981530343007916|0.032981530343007916	C|C	0.745|0.745	-0.774986|-0.774986	0.02951|0.02951	0.173854|0.173854	0.027791|0.027791	ENSG00000042980|ENSG00000042980	ENST00000521629;ENST00000518326|ENST00000265769;ENST00000397649	.|T;T	.|0.01599	.|4.84;4.74	5.84|5.84	-11.7|-11.7	0.00046|0.00046	.|ADAM, cysteine-rich (1);	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.12013	.|0.005;0.005	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.47497|0.47497	-0.9113|-0.9113	4|8	.|0.34782	.|T	.|0.22	.|.	0.1176|0.1176	0.00062|0.00062	0.2723:0.182:0.2334:0.3123|0.2723:0.182:0.2334:0.3123	rs36041430|rs36041430	.|593;593	.|B2RMV5;Q9UKQ2	.|.;ADA28_HUMAN	Q|K	225;18|593;340	.|ENSP00000265769:T593K;ENSP00000380770:T340K	.|ENSP00000265769:T593K	H|T	+|+	3|2	2|0	ADAM28|ADAM28	24255163|24255163	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-1.443000|-1.443000	0.02405|0.02405	-2.607000|-2.607000	0.00447|0.00447	-0.947000|-0.947000	0.02670|0.02670	CAC|ACA	C|0.922;A|0.078	0.078	strong		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24199218	C	A	24199218	3	1	22	1	0	0	0	0	1	0	0	0	246	478	17	4	1896	4	ADAM28	8	24199218	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15090	24199218	122164804	4724	9832										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24207399	24207399	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccattgtggttggggtGctgttcccaatggcggtcat	13	9	2	0	rs7829944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24207399G>C	ENST00000265769.4	+	19	2123	c.2013G>C	c.(2011-2013)gtG>gtC	p.V671V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.A420P|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	671					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGTTGGGGTGCTGTTCCCAA	0.493													G|||	363	0.072484	0.0847	0.0173	5008	,	,		13610	0.1052		0.0298	False		,,,				2504	0.1053				p.V671V	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.G2013C						PASS	.	G		378,4028	190.5+/-216.4	15,348,1840	184	174	177		2013	3.2	1	8	dbSNP_116	177	239,8361	95.6+/-157.4	3,233,4064	no	coding-synonymous	ADAM28	NM_014265.4		18,581,5904	CC,CG,GG		2.7791,8.5792,4.744		671/776	24207399	617,12389	2203	4300	6503	SO:0001819	synonymous_variant	10863	exon19			TGGGGTGCTGTTC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2013G>C	8.37:g.24207399G>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	140	62	0.442857	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1	148	0.06776556776556776	58	0.11788617886178862	6	0.016574585635359115	58	0.10139860139860139	26	0.03430079155672823	G	11.44	1.638722	0.29157	0.085792	0.027791	ENSG00000042980	ENST00000397649;ENST00000521629;ENST00000518326	T	0.02121	4.44	5.12	3.24	0.37175	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.45452	P	0.0015779999999999683	.	.	.	.	.	.	T	0.33266	-0.9875	5	0.72032	D	0.01	.	6.8032	0.23762	0.0951:0.0:0.7268:0.1781	rs7829944;rs7829944	.	.	.	P	420;304;97	ENSP00000380770:A420P	ENSP00000380770:A420P	A	+	1	0	ADAM28	24263344	1.000000	0.71417	0.999000	0.59377	0.052000	0.14988	1.615000	0.36922	1.257000	0.44085	0.442000	0.29010	GCT	G|0.947;C|0.053	0.053	strong		0.493	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		C	24207399	G	C	24207399	2	2	22	1	0	0	0	0	0	0	0	1	246	1306	46	4		4	ADAM28	8	24207399	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8181	24207399	122156623	4725	9833										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24207438	24207438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttgtggtggttgctatGgtaatccggcaccagagctc	12	8	0	1	rs7829965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24207438G>A	ENST00000265769.4	+	19	2162	c.2052G>A	c.(2050-2052)atG>atA	p.M684I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G433S|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	684			M -> I (in dbSNP:rs7829965).		spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGTTGCTATGGTAATCCGGC	0.488													A|||	400	0.0798722	0.1059	0.0202	5008	,	,		13242	0.1062		0.0298	False		,,,				2504	0.1115				p.M684I	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.G2052A						PASS	.	A	ILE/MET	443,3963	786.0+/-414.8	20,403,1780	161	156	157		2052	-0.6	0	8	dbSNP_116	157	237,8363	808.9+/-407.2	3,231,4066	yes	missense	ADAM28	NM_014265.4	10	23,634,5846	AA,AG,GG		2.7558,10.0545,5.2284	benign	684/776	24207438	680,12326	2203	4300	6503	SO:0001583	missense	10863	exon19			TGCTATGGTAATC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2052G>A	8.37:g.24207438G>A	ENSP00000265769:p.Met684Ile	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	153	72	0.470588	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	162|162	0.07417582417582418|0.07417582417582418	72|72	0.14634146341463414|0.14634146341463414	6|6	0.016574585635359115|0.016574585635359115	58|58	0.10139860139860139|0.10139860139860139	26|26	0.03430079155672823|0.03430079155672823	A|A	0.007|0.007	-2.009414|-2.009414	0.00426|0.00426	0.100545|0.100545	0.027558|0.027558	ENSG00000042980|ENSG00000042980	ENST00000397649;ENST00000521629;ENST00000518326|ENST00000265769	T|T	0.01548|0.01397	4.78|4.94	5.34|5.34	-0.579|-0.579	0.11720|0.11720	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01729|0.01729	-0.75|-0.75	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.42224|0.42224	-0.9464|-0.9464	6|8	0.20519|0.09590	T|T	0.43|0.72	.|.	0.637|0.637	0.00804|0.00804	0.4466:0.1332:0.1609:0.2593|0.4466:0.1332:0.1609:0.2593	rs7829965;rs58612661;rs7829965|rs7829965;rs58612661;rs7829965	.|684;684	.|B2RMV5;Q9UKQ2	.|.;ADA28_HUMAN	S|I	433;317;110|684	ENSP00000380770:G433S|ENSP00000265769:M684I	ENSP00000380770:G433S|ENSP00000265769:M684I	G|M	+|+	1|3	0|0	ADAM28|ADAM28	24263383|24263383	0.434000|0.434000	0.25570|0.25570	0.022000|0.022000	0.16811|0.16811	0.022000|0.022000	0.10575|0.10575	0.059000|0.059000	0.14322|0.14322	-0.185000|-0.185000	0.10550|0.10550	-0.661000|-0.661000	0.03856|0.03856	GGT|ATG	G|0.931;A|0.069	0.069	strong		0.488	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24207438	G	A	24207438	3	1	22	1	0	0	0	0	1	0	0	0	246	1348	47	2	2182	2	ADAM28	8	24207438	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39	24207438	122156584	4726	9834										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24250809	24250809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagttcaatatcagatgaTcttaaatggagaagaaatca	8	4	4	5	rs77012108	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24250809T>C	ENST00000256412.4	+	3	462	c.242T>C	c.(241-243)aTc>aCc	p.I81T	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.I2T|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.I2T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	81					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TATCAGATGATCTTAAATGGA	0.303													t|||	120	0.0239617	0.087	0.0072	5008	,	,		16054	0.0		0.0	False		,,,				2504	0.0				p.I81T	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											ADAMDEC1,arm,malignant_melanoma,-1,1	ADAMDEC1	69	1	0			c.T242C						PASS	.	C	THR/ILE,THR/ILE,THR/ILE	356,4050	176.6+/-205.7	19,318,1866	64	68	66		5,5,242	-10.9	0	8	dbSNP_131	66	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	89,89,89	19,320,6162	CC,CT,TT		0.0233,8.0799,2.7534	benign,benign,benign	2/392,2/392,81/471	24250809	358,12644	2203	4298	6501	SO:0001583	missense	27299	exon3			AGATGATCTTAAA	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.242T>C	8.37:g.24250809T>C	ENSP00000256412:p.Ile81Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	127	68	0.535433	NM_014479	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	44	0.020146520146520148	41	0.08333333333333333	3	0.008287292817679558	0	0.0	0	0.0	t	0.013	-1.643647	0.00792	0.080799	2.33E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.04758	3.56;4.16;4.16	5.47	-10.9	0.00192	Peptidase M12B, propeptide (1);	1.393200	0.04190	N	0.328203	T	0.00144	0.0004	N	0.10837	0.055	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41088	-0.9528	10	0.09843	T	0.71	0.1711	6.3932	0.21599	0.0997:0.5309:0.2221:0.1472	.	81	O15204	ADEC1_HUMAN	T	81;2;2	ENSP00000256412:I81T;ENSP00000442592:I2T;ENSP00000428993:I2T	ENSP00000256412:I81T	I	+	2	0	ADAMDEC1	24306754	0.000000	0.05858	0.001000	0.08648	0.254000	0.26022	-2.948000	0.00679	-1.756000	0.01318	-0.359000	0.07587	ATC	T|0.973;C|0.027	0.027	strong		0.303	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		C	24250809	T	C	24250809	3	2	22	1	0	0	0	0	1	0	0	0	254	1435	50	2	252	2	ADAMDEC1	8	24250809	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43371	24250809	122113213	4727	9835										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24251659	24251659	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccacgaaacctgagaacaTggtagggtccgaatactttg	10	9	0	1	rs7007084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24251659T>C	ENST00000256412.4	+	4	582	c.362T>C	c.(361-363)aTg>aCg	p.M121T	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site_p.M42T|ADAMDEC1_ENST00000538205.1_Splice_Site_p.M42T	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	121			M -> T (in dbSNP:rs7007084).		immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTGAGAACATGGTAGGGTCC	0.423													T|||	133	0.0265575	0.0968	0.0072	5008	,	,		18292	0.0		0.0	False		,,,				2504	0.0				p.M121T	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											.	ADAMDEC1	69	.	0			c.T362C						PASS	.	T	THR/MET,THR/MET,THR/MET	391,4015	191.6+/-217.2	21,349,1833	72	68	69		125,125,362	-0.3	0.2	8	dbSNP_116	69	3,8597	3.0+/-9.4	0,3,4297	yes	missense-near-splice,missense-near-splice,missense-near-splice	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	81,81,81	21,352,6130	CC,CT,TT		0.0349,8.8743,3.0294	benign,benign,benign	42/392,42/392,121/471	24251659	394,12612	2203	4300	6503	SO:0001630	splice_region_variant	27299	exon4			AGAACATGGTAGG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.363+1T>C	8.37:g.24251659T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	65	32	0.492308	NM_014479	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	49	0.022435897435897436	46	0.09349593495934959	3	0.008287292817679558	0	0.0	0	0.0	T	0.640	-0.813614	0.02798	0.088743	3.49E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05139	3.49;3.49;3.49	5.46	-0.309	0.12769	Peptidase M12B, propeptide (1);	0.592394	0.17862	N	0.159489	T	0.00144	0.0004	N	0.17872	0.535	0.09310	N	0.999996	B	0.11235	0.004	B	0.08055	0.003	T	0.43718	-0.9374	10	0.37606	T	0.19	-3.7358	1.3321	0.02137	0.3046:0.0864:0.1576:0.4513	rs7007084;rs52800945;rs7007084	121	O15204	ADEC1_HUMAN	T	121;42;42	ENSP00000256412:M121T;ENSP00000442592:M42T;ENSP00000428993:M42T	ENSP00000256412:M121T	M	+	2	0	ADAMDEC1	24307604	0.195000	0.23338	0.163000	0.22734	0.026000	0.11368	0.147000	0.16202	0.072000	0.16694	-0.371000	0.07208	ATG	T|0.967;C|0.033	0.033	strong		0.423	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	Missense_Mutation	C	24251659	T	C	24251659	5	2	22	1	0	0	0	0	0	0	1	0	254	1478	51	2	376	2	ADAMDEC1	8	24251659	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	850	24251659	122112363	4728	9836										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24256389	24256389	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaatgctctttccacagatAtataacaccatagatgttca	4	9	2	2	rs7001097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24256389A>T	ENST00000256412.4	+	9	985	c.765A>T	c.(763-765)atA>atT	p.I255I	ADAMDEC1_ENST00000538205.1_Silent_p.I176I|ADAMDEC1_ENST00000522298.1_Silent_p.I176I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	255	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCCACAGATATATAACACCA	0.413													T|||	88	0.0175719	0.0635	0.0058	5008	,	,		20707	0.0		0.0	False		,,,				2504	0.0				p.I255I	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											.	ADAMDEC1	69	.	0			c.A765T						PASS	.	T	,,	261,4145	803.2+/-415.7	11,239,1953	92	91	91		528,528,765	0.2	0.9	8	dbSNP_116	91	2,8598	818.9+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	11,241,6251	TT,TA,AA		0.0233,5.9237,2.0221	,,	176/392,176/392,255/471	24256389	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	27299	exon9			ACAGATATATAAC	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.765A>T	8.37:g.24256389A>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	113	51	0.451327	NM_014479	B7ZAK5	Silent	SNP	ENST00000256412.4	37	CCDS6044.1																																																																																			A|0.977;T|0.023	0.023	strong		0.413	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		T	24256389	A	T	24256389	2	4	22	1	0	0	0	0	0	0	0	1	254	439	16	5		5	ADAMDEC1	8	24256389	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4730	24256389	122107633	4729	9837										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24256512	24256512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgagatggcacagttcTaacctggggaaaaagatcca	10	9	1	2	rs7005258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24256512T>C	ENST00000256412.4	+	9	1108	c.888T>C	c.(886-888)tcT>tcC	p.S296S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.S217S|ADAMDEC1_ENST00000538205.1_Silent_p.S217S	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	296	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGCACAGTTCTAACCTGGGGA	0.517													C|||	88	0.0175719	0.0635	0.0058	5008	,	,		18805	0.0		0.0	False		,,,				2504	0.0				p.S296S	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											.	ADAMDEC1	69	.	0			c.T888C						PASS	.	C	,,	261,4145	803.2+/-415.7	11,239,1953	102	90	94		651,651,888	-0.3	0	8	dbSNP_116	94	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	11,241,6251	CC,CT,TT		0.0233,5.9237,2.0221	,,	217/392,217/392,296/471	24256512	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	27299	exon9			CAGTTCTAACCTG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.888T>C	8.37:g.24256512T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	56	0.421053	NM_014479	B7ZAK5	Silent	SNP	ENST00000256412.4	37	CCDS6044.1																																																																																			T|0.977;C|0.023	0.023	strong		0.517	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		C	24256512	T	C	24256512	2	2	22	1	0	0	0	0	0	0	0	1	254	1509	53	3		3	ADAMDEC1	8	24256512	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	123	24256512	122107510	4730	9838										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24259600	24259600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagactgtgattgtggctctCctaaggtattatttattaga	9	5	1	3	rs76707982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24259600C>T	ENST00000256412.4	+	12	1535	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.P360S|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P360S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTGGCTCTCCTAAGGTATT	0.368													C|||	72	0.014377	0.053	0.0029	5008	,	,		16709	0.0		0.0	False		,,,				2504	0.0				p.P439S	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											ADAMDEC1_ENST00000256412,NS,malignant_melanoma,-1,1	ADAMDEC1	69	1	0			c.C1315T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO	219,4187	127.8+/-164.7	6,207,1990	77	79	78		1078,1078,1315	3.4	1	8	dbSNP_131	78	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	74,74,74	6,208,6289	TT,TC,CC		0.0116,4.9705,1.6915	probably-damaging,probably-damaging,probably-damaging	360/392,360/392,439/471	24259600	220,12786	2203	4300	6503	SO:0001583	missense	27299	exon12			GGCTCTCCTAAGG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1315C>T	8.37:g.24259600C>T	ENSP00000256412:p.Pro439Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	61	39	0.639344	NM_014479	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	C	12.49	1.952501	0.34471	0.049705	1.16E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.10860	2.83;2.83;2.83	6.16	3.43	0.39272	Blood coagulation inhibitor, Disintegrin (3);	0.377504	0.26176	N	0.025893	T	0.01156	0.0038	L	0.47190	1.495	0.44188	D	0.997006	P	0.35192	0.489	B	0.39935	0.314	T	0.20472	-1.0274	10	0.38643	T	0.18	-5.4888	8.4866	0.33076	0.0:0.7617:0.0:0.2383	.	439	O15204	ADEC1_HUMAN	S	439;360;360	ENSP00000256412:P439S;ENSP00000442592:P360S;ENSP00000428993:P360S	ENSP00000256412:P439S	P	+	1	0	ADAMDEC1	24315545	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.002000	0.12924	0.486000	0.27676	0.650000	0.86243	CCT	C|0.983;T|0.017	0.017	strong		0.368	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		T	24259600	C	T	24259600	3	4	22	1	0	0	0	0	1	0	0	0	254	855	30	2	1361	2	ADAMDEC1	8	24259600	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3088	24259600	122104422	4731	9839										
ADAMDEC1	27299	hgsc.bcm.edu	37	chr8	24261518	24261518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgtgtgctttgaaggaGtgtaccaatctctgctgtga	13	6	1	2	rs61731545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24261518G>A	ENST00000256412.4	+	13	1543	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	ADAMDEC1_ENST00000538205.1_Silent_p.E362E|ADAMDEC1_ENST00000522298.1_Silent_p.E362E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	441	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTTGAAGGAGTGTACCAATC	0.433													A|||	87	0.0173722	0.0628	0.0058	5008	,	,		17414	0.0		0.0	False		,,,				2504	0.0				p.E441E	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											.	ADAMDEC1	69	.	0			c.G1323A						PASS	.	A	,,	259,4147	802.9+/-415.7	10,239,1954	210	177	188		1086,1086,1323	-2.6	0.7	8	dbSNP_129	188	2,8598	818.9+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	10,241,6252	AA,AG,GG		0.0233,5.8783,2.0068	,,	362/392,362/392,441/471	24261518	261,12745	2203	4300	6503	SO:0001819	synonymous_variant	27299	exon13			GAAGGAGTGTACC	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1323G>A	8.37:g.24261518G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	121	61	0.504132	NM_014479	B7ZAK5	Silent	SNP	ENST00000256412.4	37	CCDS6044.1																																																																																			G|0.979;A|0.021	0.021	strong		0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		A	24261518	G	A	24261518	2	1	22	1	0	0	0	0	0	0	0	1	254	1020	36	2		2	ADAMDEC1	8	24261518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1918	24261518	122102504	4732	9840										
ADAM7	8756	hgsc.bcm.edu	37	chr8	24349482	24349482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttcctgagatgtgcactGgccactcgcctgcctgtcct	9	14	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24349482G>A	ENST00000175238.6	+	14	1506	c.1423G>A	c.(1423-1425)Ggc>Agc	p.G475S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G247S|ADAM7_ENST00000380789.1_Missense_Mutation_p.G475S|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	475	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATGTGCACTGGCCACTCGCC	0.463																																					p.G475S		Atlas-SNP	.											ADAM7,colon,carcinoma,-2,1	ADAM7	165	1	0			c.G1423A						PASS	.																																			SO:0001583	missense	8756	exon14			TGCACTGGCCACT	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1423G>A	8.37:g.24349482G>A	ENSP00000175238:p.Gly475Ser	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	97	57	0.587629	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891293	0.91889	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.57107	0.42;0.42;0.42	5.78	5.78	0.91487	Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.56097	D	0.000026	D	0.83889	0.5352	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89755	0.3943	10	0.87932	D	0	.	17.5062	0.87746	0.0:0.0:1.0:0.0	.	247;475	E5RK87;Q9H2U9	.;ADAM7_HUMAN	S	475;475;247;290	ENSP00000175238:G475S;ENSP00000370166:G475S;ENSP00000430400:G247S	ENSP00000175238:G475S	G	+	1	0	ADAM7	24405372	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	7.643000	0.83403	2.749000	0.94314	0.655000	0.94253	GGC	.	.	none		0.463	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24349482	G	A	24349482	3	1	22	1	0	0	0	0	1	0	0	0	251	1348	47	2	1477	2	ADAM7	8	24349482	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87964	24349482	122014540	4733	9841										
NEFM	4741	hgsc.bcm.edu	37	chr8	24771318	24771318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctccaagatgagctacacGttggactcgctgggcaaccc	11	14	0	2	rs61735462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:24771318G>A	ENST00000221166.5	+	1	794	c.12G>A	c.(10-12)acG>acA	p.T4T	NEFM_ENST00000518131.1_Silent_p.T4T|NEFM_ENST00000433454.2_5'Flank|GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000437366.2_Silent_p.T4T|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	4	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGAGCTACACGTTGGACTCGC	0.697													g|||	42	0.00838658	0.031	0.0	5008	,	,		13480	0.0		0.001	False		,,,				2504	0.0				p.T4T		Atlas-SNP	.											.	NEFM	115	.	1	Unknown(1)	breast(1)	c.G12A						PASS	.			92,4278		0,92,2093	13	16	15		12	-0.2	0.9	8	dbSNP_129	15	3,8561		0,3,4279	no	coding-synonymous	NEFM	NM_005382.2		0,95,6372	AA,AG,GG		0.035,2.1053,0.7345		4/917	24771318	95,12839	2185	4282	6467	SO:0001819	synonymous_variant	4741	exon1			CTACACGTTGGAC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.12G>A	8.37:g.24771318G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_005382	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																			G|0.992;A|0.008	0.008	strong		0.697	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		A	24771318	G	A	24771318	2	1	22	1	0	0	0	0	0	0	0	1	10316	1132	40	1		1	NEFM	8	24771318	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	421836	24771318	121592704	4734	9842										
DOCK5	80005	hgsc.bcm.edu	37	chr8	25149590	25149590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagatgacgtacagcctGatcgagtggcggtcccagat	13	11	0	4	rs35475676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:25149590G>A	ENST00000276440.7	+	6	416	c.372G>A	c.(370-372)ctG>ctA	p.L124L	DOCK5_ENST00000481100.1_Silent_p.L124L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	124					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGTACAGCCTGATCGAGTGGC	0.483													G|||	59	0.0117812	0.0416	0.0058	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0				p.L124L	Pancreas(145;34 1887 3271 10937 30165)	Atlas-SNP	.											.	DOCK5	167	.	0			c.G372A						PASS	.	G		213,4193	121.7+/-159.2	8,197,1998	38	36	36		372	3.7	1	8	dbSNP_126	36	0,8600		0,0,4300	yes	coding-synonymous	DOCK5	NM_024940.6		8,197,6298	AA,AG,GG		0.0,4.8343,1.6377		124/1871	25149590	213,12793	2203	4300	6503	SO:0001819	synonymous_variant	80005	exon6			CAGCCTGATCGAG		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.372G>A	8.37:g.25149590G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	CCDS6047.1																																																																																			G|0.983;A|0.017	0.017	strong		0.483	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25149590	G	A	25149590	2	1	22	1	0	0	0	0	0	0	0	1	4690	1277	45	2		2	DOCK5	8	25149590	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	378272	25149590	121214432	4735	9843										
DPYSL2	1808	hgsc.bcm.edu	37	chr8	26441477	26441477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggaaccaaggcggccctGgctgggggaaccactatgat	14	11	0	1	rs11786691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:26441477G>A	ENST00000311151.5	+	3	703	c.291G>A	c.(289-291)ctG>ctA	p.L97L	DPYSL2_ENST00000523027.1_Silent_p.L61L|DPYSL2_ENST00000521913.1_Silent_p.L61L	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	97					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGCGGCCCTGGCTGGGGGAA	0.463													G|||	352	0.0702875	0.0696	0.0908	5008	,	,		19439	0.002		0.1312	False		,,,				2504	0.0644				p.L202L		Atlas-SNP	.											.	DPYSL2	49	.	0			c.G606A						PASS	.	G	,	357,4049	182.2+/-210.1	6,345,1852	101	103	102		606,291	3.6	1	8	dbSNP_120	102	1045,7555	222.7+/-259.7	58,929,3313	no	coding-synonymous,coding-synonymous	DPYSL2	NM_001197293.2,NM_001386.5	,	64,1274,5165	AA,AG,GG		12.1512,8.1026,10.7796	,	202/678,97/573	26441477	1402,11604	2203	4300	6503	SO:0001819	synonymous_variant	1808	exon3			GGCCCTGGCTGGG	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.291G>A	8.37:g.26441477G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_001197293	A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	CCDS6051.1																																																																																			G|0.903;A|0.097	0.097	strong		0.463	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		A	26441477	G	A	26441477	2	1	22	1	0	0	0	0	0	0	0	1	4747	1335	47	2		2	DPYSL2	8	26441477	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1291887	26441477	119922545	4736	9844										
CHRNA2	1135	hgsc.bcm.edu	37	chr8	27324844	27324844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttccagcgcagtttgtaGtcgctccactcctgtgtgtg	13	11	0	0	rs2565061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27324844G>A	ENST00000520933.2	-	4	504	c.351C>T	c.(349-351)gaC>gaT	p.D117D	CHRNA2_ENST00000407991.1_Silent_p.D117D|CHRNA2_ENST00000240132.2_Silent_p.D102D			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	117					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GCAGTTTGTAGTCGCTCCACT	0.547													G|||	1191	0.237819	0.2579	0.2017	5008	,	,		18862	0.4177		0.1402	False		,,,				2504	0.1513				p.D117D		Atlas-SNP	.											.	CHRNA2	48	.	0			c.C351T						PASS	.	G		1047,3359	384.4+/-325.3	116,815,1272	102	100	101		351	4.7	1	8	dbSNP_100	101	1127,7473	233.0+/-266.5	77,973,3250	no	coding-synonymous	CHRNA2	NM_000742.3		193,1788,4522	AA,AG,GG		13.1047,23.7631,16.7154		117/530	27324844	2174,10832	2203	4300	6503	SO:0001819	synonymous_variant	1135	exon5			TTTGTAGTCGCTC	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.351C>T	8.37:g.27324844G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	110	42	0.381818	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																			G|0.788;A|0.212	0.212	strong		0.547	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			A	27324844	G	A	27324844	2	1	22	1	0	0	0	0	0	0	0	1	3383	1020	36	2		2	CHRNA2	8	27324844	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	883367	27324844	119039178	4737	9845										
CLU	1191	hgsc.bcm.edu	37	chr8	27457507	27457507	+	Silent	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccgcagcttagcctgggaGgggttgttggtggaacagtc					rs9331937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27457507G>C	ENST00000316403.10	-	7	1359	c.954C>G	c.(952-954)ccC>ccG	p.P318P	CLU_ENST00000546343.1_Silent_p.P329P|CLU_ENST00000405140.3_Silent_p.P318P|CLU_ENST00000560366.1_Silent_p.P370P|CLU_ENST00000523500.1_Silent_p.P318P			P10909	CLUS_HUMAN	clusterin	318					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TAGCCTGGGAGGGGTTGTTGG	0.522													G|||	144	0.028754	0.1059	0.0058	5008	,	,		20885	0.0		0.0	False		,,,				2504	0.0				p.P318P		Atlas-SNP	.											.	CLU	54	.	0			c.C954G						PASS	.	G		375,4031	191.2+/-216.9	12,351,1840	57	54	55		954	-8.3	0	8	dbSNP_119	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CLU	NM_203339.2		12,353,6138	CC,CG,GG		0.0233,8.5111,2.8987		318/450	27457507	377,12629	2203	4300	6503	SO:0001819	synonymous_variant	1191	exon7			CTGGGAGGGGTTG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.954C>G	8.37:g.27457507G>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_001831	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	CCDS47832.1	54|54	0.024725274725274724|0.024725274725274724	51|51	0.10365853658536585|0.10365853658536585	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	G|G	5.885|5.885	0.347360|0.347360	0.11126|0.11126	0.085111|0.085111	2.33E-4|2.33E-4	ENSG00000120885|ENSG00000120885	ENST00000522098|ENST00000521770	.|T	.|0.38401	.|1.14	5.62|5.62	-8.32|-8.32	0.00996|0.00996	.|.	.|0.050523	.|0.85682	.|D	.|0.000000	T|T	0.00724|0.00724	0.0024|0.0024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38134|0.38134	-0.9675|-0.9675	4|7	.|0.87932	.|D	.|0	-28.8002|-28.8002	0.2978|0.2978	0.00268|0.00268	0.2607:0.255:0.2311:0.2532|0.2607:0.255:0.2311:0.2532	rs9331937;rs9331937|rs9331937;rs9331937	.|.	.|.	.|.	V|R	181|9	.|ENSP00000428033:P9R	.|ENSP00000428033:P9R	L|P	-|-	1|2	0|0	CLU|CLU	27513424|27513424	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-3.122000|-3.122000	0.00594|0.00594	-1.333000|-1.333000	0.02247|0.02247	0.655000|0.655000	0.94253|0.94253	CTC|CCT	G|0.973;C|0.027	0.027	strong		0.522	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		C	27457507	G	C	27457507	2	2	22	1	0	0	0	0	0	0	0	1	3568	987	35	4		4	CLU	8	27457507	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132663	27457507	118906515	4738	9846	205	2								
CLU	1191	hgsc.bcm.edu	37	chr8	27457512	27457512	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcttagcctgggaggggtTgttggtggaacagtctgccc					rs9331936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27457512T>G	ENST00000316403.10	-	7	1354	c.949A>C	c.(949-951)Aac>Cac	p.N317H	CLU_ENST00000405140.3_Missense_Mutation_p.N317H|CLU_ENST00000546343.1_Missense_Mutation_p.N328H|CLU_ENST00000560366.1_Missense_Mutation_p.N369H|CLU_ENST00000523500.1_Missense_Mutation_p.N317H			P10909	CLUS_HUMAN	clusterin	317			N -> H (in dbSNP:rs9331936). {ECO:0000269|Ref.6}.		blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGGAGGGGTTGTTGGTGGAA	0.527													T|||	327	0.0652955	0.2398	0.013	5008	,	,		20819	0.0		0.001	False		,,,				2504	0.0				p.N317H		Atlas-SNP	.											.	CLU	54	.	0			c.A949C						PASS	.	T	HIS/ASN	869,3537	336.3+/-304.3	81,707,1415	57	53	54		949	-1.3	0	8	dbSNP_119	54	10,8590	7.1+/-27.0	0,10,4290	yes	missense	CLU	NM_203339.2	68	81,717,5705	GG,GT,TT		0.1163,19.7231,6.7584	probably-damaging	317/450	27457512	879,12127	2203	4300	6503	SO:0001583	missense	1191	exon7			AGGGGTTGTTGGT	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.949A>C	8.37:g.27457512T>G	ENSP00000315130:p.Asn317His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	81	45	0.555556	NM_001831	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	135|135	0.061813186813186816|0.061813186813186816	131|131	0.266260162601626|0.266260162601626	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	0|0	0.0|0.0	T|T	15.93|15.93	2.978011|2.978011	0.53720|0.53720	0.197231|0.197231	0.001163|0.001163	ENSG00000120885|ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012|ENST00000522098	T;T;T|.	0.24350|.	1.86;1.86;1.86|.	5.62|5.62	-1.32|-1.32	0.09201|0.09201	Clusterin, C-terminal (1);|.	0.361968|.	0.34603|.	N|.	0.003825|.	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	P|P	0.0|0.0	D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999|.	D;D;D;D|.	0.72338|.	0.972;0.974;0.974;0.977|.	T|T	0.11591|0.11591	-1.0581|-1.0581	9|4	0.62326|.	D|.	0.03|.	-24.2564|-24.2564	5.937|5.937	0.19171|0.19171	0.0:0.4821:0.1723:0.3456|0.0:0.4821:0.1723:0.3456	rs9331936;rs11555230|rs9331936;rs11555230	182;369;328;317|.	E7ETA7;P10909-2;P10909-5;P10909|.	.;.;.;CLUS_HUMAN|.	H|P	369;328;317;317;142;182|179	ENSP00000446413:N328H;ENSP00000385419:N317H;ENSP00000429620:N317H|.	ENSP00000315130:N369H|.	N|Q	-|-	1|2	0|0	CLU|CLU	27513429|27513429	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	2.424000|2.424000	0.44714|0.44714	-0.154000|-0.154000	0.11118|0.11118	-0.250000|-0.250000	0.11733|0.11733	AAC|CAA	T|0.922;G|0.078	0.078	strong		0.527	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		G	27457512	T	G	27457512	3	3	22	1	0	0	0	0	1	0	0	0	3568	1812	63	5	412	5	CLU	8	27457512	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	27457512	118906510	4739	9847	205	2								
CLU	1191	hgsc.bcm.edu	37	chr8	27468005	27468005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactcaccctggagctcattGtctgagaccgtctggtcccc	9	15	4	1	rs9331892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27468005G>A	ENST00000316403.10	-	2	489	c.84C>T	c.(82-84)gaC>gaT	p.D28D	CLU_ENST00000546343.1_Silent_p.D39D|CLU_ENST00000405140.3_Silent_p.D28D|CLU_ENST00000560366.1_Silent_p.D80D|CLU_ENST00000523500.1_Silent_p.D28D			P10909	CLUS_HUMAN	clusterin	28				D -> S (in Ref. 9; AA sequence and 13; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGAGCTCATTGTCTGAGACCG	0.562													G|||	286	0.0571086	0.2095	0.013	5008	,	,		20395	0.0		0.0	False		,,,				2504	0.0				p.D28D		Atlas-SNP	.											.	CLU	54	.	0			c.C84T						PASS	.	G		775,3631	313.3+/-293.0	65,645,1493	114	103	107		84	2.2	0	8	dbSNP_119	107	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	CLU	NM_203339.2		65,653,5785	AA,AG,GG		0.093,17.5897,6.0203		28/450	27468005	783,12223	2203	4300	6503	SO:0001819	synonymous_variant	1191	exon2			CTCATTGTCTGAG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.84C>T	8.37:g.27468005G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	138	53	0.384058	NM_001831	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	CCDS47832.1																																																																																			G|0.944;A|0.056	0.056	strong		0.562	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		A	27468005	G	A	27468005	2	1	22	1	0	0	0	0	0	0	0	1	3568	1368	48	2		2	CLU	8	27468005	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10493	27468005	118896017	4740	9848										
PBK	55872	hgsc.bcm.edu	37	chr8	27668587	27668587	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtcagtaataacaccattCtcctccacagcttctttggg	6	12	3	0	rs17057901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27668587C>G	ENST00000301905.4	-	7	1123	c.660G>C	c.(658-660)gaG>gaC	p.E220D	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Missense_Mutation_p.E231D	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> D (in dbSNP:rs17057901).		mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TAACACCATTCTCCTCCACAG	0.428													C|||	105	0.0209665	0.0741	0.0101	5008	,	,		19638	0.0		0.0	False		,,,				2504	0.0				p.E220D		Atlas-SNP	.											.	PBK	29	.	0			c.G660C						PASS	.	C	ASP/GLU	299,4107	163.6+/-195.4	12,275,1916	134	114	121		660	-1.1	0.8	8	dbSNP_123	121	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PBK	NM_018492.2	45	12,279,6212	GG,GC,CC		0.0465,6.7862,2.3297	benign	220/323	27668587	303,12703	2203	4300	6503	SO:0001583	missense	55872	exon7			ACCATTCTCCTCC	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.660G>C	8.37:g.27668587C>G	ENSP00000301905:p.Glu220Asp	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	139	67	0.482014	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	31	0.014194139194139194	28	0.056910569105691054	3	0.008287292817679558	0	0.0	0	0.0	C	13.60	2.284682	0.40394	0.067862	4.65E-4	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.33654	1.4;1.4	5.49	-1.13	0.09775	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043945	0.85682	D	0.000000	T	0.01661	0.0053	N	0.21448	0.665	0.44843	D	0.997853	B;B	0.24675	0.109;0.04	B;B	0.35312	0.2;0.075	T	0.06770	-1.0808	10	0.15066	T	0.55	-24.1822	10.3658	0.44024	0.0:0.4018:0.0:0.5982	rs17057901;rs17057901	231;220	B4DX68;Q96KB5	.;TOPK_HUMAN	D	220;231	ENSP00000301905:E220D;ENSP00000428489:E231D	ENSP00000301905:E220D	E	-	3	2	PBK	27724506	0.005000	0.15991	0.807000	0.32361	0.928000	0.56348	-0.940000	0.03929	-0.140000	0.11394	0.655000	0.94253	GAG	C|0.978;G|0.022	0.022	strong		0.428	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		G	27668587	C	G	27668587	3	3	22	1	0	0	0	0	1	0	0	0	11488	912	32	4	316	4	PBK	8	27668587	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	200582	27668587	118695435	4741	9849										
PBK	55872	hgsc.bcm.edu	37	chr8	27679981	27679981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagacacagactgccatcaTtggcttcagtaaaagcacga	8	11	2	2	rs3779620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27679981T>C	ENST00000301905.4	-	5	783	c.320A>G	c.(319-321)aAt>aGt	p.N107S	PBK_ENST00000522944.1_Missense_Mutation_p.N107S	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> S (in dbSNP:rs3779620). {ECO:0000269|PubMed:10779557, ECO:0000269|PubMed:11378444, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N107S(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		ACTGCCATCATTGGCTTCAGT	0.343													C|||	1116	0.222843	0.2837	0.1066	5008	,	,		18594	0.3611		0.1064	False		,,,				2504	0.2004				p.N107S		Atlas-SNP	.											PBK_ENST00000301905,NS,carcinoma,0,1	PBK	29	1	1	Substitution - Missense(1)	stomach(1)	c.A320G						PASS	.	C	SER/ASN	1095,3311	718.0+/-408.8	139,817,1247	65	59	61		320	2.2	1	8	dbSNP_107	61	873,7727	777.9+/-407.7	47,779,3474	yes	missense	PBK	NM_018492.2	46	186,1596,4721	CC,CT,TT		10.1512,24.8525,15.1315	benign	107/323	27679981	1968,11038	2203	4300	6503	SO:0001583	missense	55872	exon5			CCATCATTGGCTT	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.320A>G	8.37:g.27679981T>C	ENSP00000301905:p.Asn107Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	442	0.20238095238095238	128	0.2601626016260163	42	0.11602209944751381	204	0.35664335664335667	68	0.08970976253298153	C	3.539	-0.094007	0.07053	0.248525	0.101512	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.32988	1.43;1.43	5.46	2.21	0.28008	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.379039	0.34750	N	0.003715	T	0.00012	0.0000	N	0.12853	0.265	0.58432	P	5.000000000032756E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48055	-0.9068	9	0.12766	T	0.61	-6.1974	6.6419	0.22914	0.0:0.4885:0.0:0.5115	rs3779620;rs52820681;rs3779620	107;107	B4DX68;Q96KB5	.;TOPK_HUMAN	S	107	ENSP00000301905:N107S;ENSP00000428489:N107S	ENSP00000301905:N107S	N	-	2	0	PBK	27735900	0.772000	0.28567	0.995000	0.50966	0.757000	0.42996	0.748000	0.26305	0.378000	0.24764	-0.733000	0.03571	AAT	T|0.817;C|0.183	0.183	strong		0.343	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		C	27679981	T	C	27679981	3	2	22	1	0	0	0	0	1	0	0	0	11488	1493	52	2	664	2	PBK	8	27679981	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11394	27679981	118684041	4742	9850										
SCARA5	286133	hgsc.bcm.edu	37	chr8	27779652	27779672	+	In_Frame_Del	DEL	GCAGCGGAGCCTGCAGCAGCC	GCAGCGGAGCCTGCAGCAGCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctccgtcaggtccgcttGcagcggagcctgcagcagcc					rs556775167|rs370651084|rs544481270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GCAGCGGAGCCTGCAGCAGCC	GCAGCGGAGCCTGCAGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27779652_27779672delGCAGCGGAGCCTGCAGCAGCC	ENST00000354914.3	-	4	817_837	c.332_352delGGCTGCTGCAGGCTCCGCTGC	c.(331-354)cggctgctgcaggctccgctgcaa>caa	p.RLLQAPL111del	SCARA5_ENST00000524352.1_In_Frame_Del_p.RLLQAPL111del|SCARA5_ENST00000518030.1_In_Frame_Del_p.RLLQAPL68del|SCARA5_ENST00000301906.4_In_Frame_Del_p.RLLQAPL68del|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	111					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGGTCCGCTTGCAGCGGAGCCTGCAGCAGCCGCAGCTGCAA	0.67														4	0.000798722	0.003	0.0	5008	,	,		20679	0.0		0.0	False		,,,				2504	0.0				p.111_118del		Pindel,Atlas-Indel	.											.	SCARA5	53	.	0			c.333_353del						PASS	.			5,4237		1,3,2117						3.1	1			13	9,8227		3,3,4112	no	coding	SCARA5	NM_173833.5		4,6,6229	A1A1,A1R,RR		0.1093,0.1179,0.1122				14,12464				SO:0001651	inframe_deletion	286133	exon4			.	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.332_352delGGCTGCTGCAGGCTCCGCTGC	8.37:g.27779652_27779672delGCAGCGGAGCCTGCAGCAGCC	ENSP00000346990:p.Arg111_Leu117del	Somatic	97	.	.		WXS	Illumina HiSeq	Phase_I	53	26	0.491	NM_173833	Q6UXZ1|Q7Z4A1|Q8N4Z7	In_Frame_Del	DEL	ENST00000354914.3	37	CCDS6064.1																																																																																			.	.	none		0.67	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		-	27779672	GCAGCGGAGCCTGCAGCAGCC	-	27779652	7	5	22	1	0	1	0	1	0	0	0	0	13880	1328	46	0	1159	0	SCARA5	8	27779652	In_Frame_Del	DEL	GCAGCGGAGCCTGCAGCAGCC	TCGA-G8-6324-01A-11D-2210-10	99671	27779652	118584370	4743	9851										
C8orf80	389643	hgsc.bcm.edu	37	chr8	27925220	27925220	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctcagctcctccgtcctAtgcaggagtttggtcaggtt	11	12	2	0	rs114951850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:27925220A>G	ENST00000413272.2	-	6	664	c.522T>C	c.(520-522)caT>caC	p.H174H	NUGGC_ENST00000341513.6_Silent_p.H174H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	174					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCTCCGTCCTATGCAGGAGTT	0.547													A|||	104	0.0207668	0.0756	0.0058	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0				p.H174H		Atlas-SNP	.											.	.	.	.	0			c.T522C						PASS	.	A		193,3875		6,181,1847	68	69	69		522	-2.4	0	8	dbSNP_132	69	5,8431		0,5,4213	no	coding-synonymous	C8orf80	NM_001010906.1		6,186,6060	GG,GA,AA		0.0593,4.7443,1.5835		174/797	27925220	198,12306	2034	4218	6252	SO:0001819	synonymous_variant	389643	exon6			CGTCCTATGCAGG	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.522T>C	8.37:g.27925220A>G		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	247	130	0.526316	NM_001010906	Q6ZP73	Silent	SNP	ENST00000413272.2	37	CCDS47833.1																																																																																			A|0.985;G|0.015	0.015	strong		0.547	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		G	27925220	A	G	27925220	2	3	22	1	0	0	0	0	0	0	0	1	2439	446	16	2		2	C8orf80	8	27925220	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	145568	27925220	118438802	4744	9852										
FBXO16	157574	hgsc.bcm.edu	37	chr8	28321153	28321153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaacgacaaaggctccgAgggtccaggaaagaaaagat	12	9	0	2	rs7822086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:28321153A>G	ENST00000380254.2	-	4	466	c.318T>C	c.(316-318)ccT>ccC	p.P106P	FBXO16_ENST00000518734.1_Silent_p.P94P|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Silent_p.P94P	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	106	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AAAGGCTCCGAGGGTCCAGGA	0.443													G|||	308	0.0615016	0.2194	0.0101	5008	,	,		20959	0.005		0.001	False		,,,				2504	0.0051				p.P106P		Atlas-SNP	.											.	FBXO16	29	.	0			c.T318C						PASS	.	G		735,3671	720.3+/-409.0	73,589,1541	55	53	54		318	2.7	1	8	dbSNP_116	54	8,8592	818.7+/-406.8	0,8,4292	no	coding-synonymous	FBXO16	NM_172366.2		73,597,5833	GG,GA,AA		0.093,16.6818,5.7127		106/293	28321153	743,12263	2203	4300	6503	SO:0001819	synonymous_variant	157574	exon4			GCTCCGAGGGTCC	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.318T>C	8.37:g.28321153A>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	133	58	0.43609	NM_172366	Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	ENST00000380254.2	37	CCDS6068.1																																																																																			A|0.932;G|0.068	0.068	strong		0.443	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		G	28321153	A	G	28321153	2	3	22	1	0	0	0	0	0	0	0	1	5729	291	11	3		3	FBXO16	8	28321153	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	395933	28321153	118042869	4745	9853										
FZD3	7976	hgsc.bcm.edu	37	chr8	28413375	28413375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactcaaggaacatccacCcatgcttcttcaactcagct	4	16	4	0	rs62001924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:28413375C>T	ENST00000240093.3	+	7	2152	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	FZD3_ENST00000537916.1_Silent_p.T558T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	558					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAACATCCACCCATGCTTCTT	0.488													C|||	76	0.0151757	0.0575	0.0	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0				p.T558T		Atlas-SNP	.											.	FZD3	65	.	0			c.C1674T						PASS	.	C	,	204,4202	124.9+/-162.1	3,198,2002	95	77	83		1674,1674	0.3	1	8	dbSNP_129	83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FZD3	NM_017412.3,NM_145866.1	,	3,198,6302	TT,TC,CC		0.0,4.63,1.5685	,	558/667,558/667	28413375	204,12802	2203	4300	6503	SO:0001819	synonymous_variant	7976	exon7			ATCCACCCATGCT	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1674C>T	8.37:g.28413375C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	100	58	0.58	NM_017412	A8K615	Silent	SNP	ENST00000240093.3	37	CCDS6069.1																																																																																			C|0.984;T|0.016	0.016	strong		0.488	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		T	28413375	C	T	28413375	2	4	22	1	0	0	0	0	0	0	0	1	6131	610	22	2		2	FZD3	8	28413375	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92222	28413375	117950647	4746	9854										
TMEM66	51669	hgsc.bcm.edu	37	chr8	29927182	29927182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaactcagacttaaagcctgGgggaggaggtcctgctgagt	15	8	1	2	rs34416759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:29927182G>A	ENST00000256255.6	-	3	933	c.676C>T	c.(676-678)Cca>Tca	p.P226S	TMEM66_ENST00000545648.1_Missense_Mutation_p.P54S|TMEM66_ENST00000536273.1_Missense_Mutation_p.P54S	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		226					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TTAAAGCCTGGGGGAGGAGGT	0.507													G|||	44	0.00878594	0.031	0.0043	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0				p.P226S		Atlas-SNP	.											.	TMEM66	23	.	0			c.C676T						PASS	.	G	SER/PRO	135,4271	95.3+/-134.0	4,127,2072	119	102	108		676	-0.4	0	8	dbSNP_126	108	0,8600		0,0,4300	yes	missense	TMEM66	NM_016127.4	74	4,127,6372	AA,AG,GG		0.0,3.064,1.038	benign	226/340	29927182	135,12871	2203	4300	6503	SO:0001583	missense	51669	exon3			AGCCTGGGGGAGG																												ENST00000256255.6:c.676C>T	8.37:g.29927182G>A	ENSP00000256255:p.Pro226Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	159	64	0.402516	NM_016127	B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	CCDS6074.1	16|16	0.007326007326007326|0.007326007326007326	15|15	0.03048780487804878|0.03048780487804878	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.64|13.64	2.296786|2.296786	0.40594|0.40594	0.03064|0.03064	0.0|0.0	ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794	T|T;T;T;T;T	0.58940|0.57752	0.3|0.38;0.38;0.38;0.38;0.38	5.82|5.82	-0.4|-0.4	0.12411|0.12411	.|.	0.360290|0.360290	0.32244|0.32244	N|N	0.006371|0.006371	T|T	0.21427|0.21427	0.0516|0.0516	L|L	0.61036|0.61036	1.89|1.89	0.41958|0.41958	D|D	0.990696|0.990696	.|B;B	.|0.25390	.|0.125;0.125	.|B;B	.|0.27170	.|0.077;0.077	T|T	0.09751|0.09751	-1.0660|-1.0660	8|10	0.72032|0.48119	D|T	0.01|0.1	-4.2187|-4.2187	7.801|7.801	0.29174|0.29174	0.0663:0.457:0.3642:0.1125|0.0663:0.457:0.3642:0.1125	rs34416759|rs34416759	.|226;226	.|B3KQQ4;Q96BY9	.|.;TMM66_HUMAN	L|S	95|226;54;190;54;124;190	ENSP00000427769:P95L|ENSP00000256255:P226S;ENSP00000441351:P54S;ENSP00000441723:P54S;ENSP00000428323:P124S;ENSP00000429630:P190S	ENSP00000427769:P95L|ENSP00000256255:P226S	P|P	-|-	2|1	0|0	TMEM66|TMEM66	30046724|30046724	0.985000|0.985000	0.35326|0.35326	0.020000|0.020000	0.16555|0.16555	0.991000|0.991000	0.79684|0.79684	1.791000|1.791000	0.38744|0.38744	-0.381000|-0.381000	0.07882|0.07882	-0.182000|-0.182000	0.12963|0.12963	CCC|CCA	G|0.990;A|0.010	0.010	strong		0.507	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			A	29927182	G	A	29927182	3	1	22	1	0	0	0	0	1	0	0	0	16192	1232	43	2	359	2	TMEM66	8	29927182	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1513807	29927182	116436840	4747	9855										
LEPROTL1	619373	hgsc.bcm.edu	37	chr8	29994923	29994923	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagtgtccactcaacccGtgctgaggctggcagacagt	13	12	1	3	rs77053651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:29994923G>A	ENST00000320542.3	-	2	429				LEPROTL1_ENST00000442880.2_3'UTR|LEPROTL1_ENST00000523116.1_Missense_Mutation_p.V139M	NM_001100916.1	NP_001094386.1	Q96T53	MBOA4_HUMAN	membrane bound O-acyltransferase domain containing 4						cellular protein metabolic process (GO:0044267)|peptidyl-serine octanoylation (GO:0018191)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	serine O-acyltransferase activity (GO:0016412)			endometrium(1)	1						CACTCAACCCGTGCTGAGGCT	0.562													G|||	82	0.0163738	0.056	0.0101	5008	,	,		19995	0.0		0.001	False		,,,				2504	0.0				p.V139M		Atlas-SNP	.											.	LEPROTL1	16	.	0			c.G415A						PASS	.	G	,MET/VAL	82,1302		3,76,613	51	44	46		,415	-1.1	0	8	dbSNP_132	46	1,3181		0,1,1590	yes	intron,missense	LEPROTL1,MBOAT4	NM_001100916.1,NM_001128208.1	,21	3,77,2203	AA,AG,GG		0.0314,5.9249,1.8178	,benign	,139/170	29994923	83,4483	692	1591	2283	SO:0001627	intron_variant	23484	exon4			CAACCCGTGCTGA	AF359269	CCDS47835.1	8p12	2008-08-04	2006-06-29	2006-06-29	ENSG00000177669	ENSG00000177669			32311	protein-coding gene	gene with protein product	"ghrelin O-acyltransferase"	611940	"O-acyltransferase (membrane bound) domain containing 4"	OACT4		18443287	Standard	NM_001100916		Approved	FKSG89, GOAT	uc010lvg.3	Q96T53	OTTHUMG00000163824	ENST00000320542.3:c.344+1124C>T	8.37:g.29994923G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	135	56	0.414815	NM_001128208	B1Q003	Missense_Mutation	SNP	ENST00000320542.3	37	CCDS47835.1	33	0.01510989010989011	29	0.05894308943089431	4	0.011049723756906077	0	0.0	0	0.0	G	13.55	2.271741	0.40194	0.059249	3.14E-4	ENSG00000104660	ENST00000523116	.	.	.	3.84	-1.13	0.09775	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	0.999999	B	0.16396	0.017	B	0.08055	0.003	T	0.23297	-1.0192	7	.	.	.	.	7.2794	0.26302	0.5248:0.0:0.4752:0.0	.	139	E9PHP8	.	M	139	.	.	V	+	1	0	LEPROTL1	30114465	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.030000	0.12308	-0.204000	0.10235	-0.469000	0.05056	GTG	G|0.984;A|0.016	0.016	strong		0.562	MBOAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375795.1			A	29994923	G	A	29994923	1	1	22	0	1	0	0	0	0	0	0	0	8733	1145	40	1		1	LEPROTL1	8	29994923	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67741	29994923	116369099	4748	9856										
TEX15	56154	hgsc.bcm.edu	37	chr8	30702525	30702525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcactgcagcggctgataActgaggaatactgtactttt	10	8	1	2	rs323344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:30702525A>C	ENST00000256246.2	-	1	4083	c.4009T>G	c.(4009-4011)Tta>Gta	p.L1337V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1337			L -> V (in dbSNP:rs323344). {ECO:0000269|PubMed:11279525}.		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)		GCGGCTGATAACTGAGGAATA	0.383													A|||	1635	0.326478	0.8449	0.1571	5008	,	,		20923	0.0704		0.1272	False		,,,				2504	0.2147				p.L1337V		Atlas-SNP	.											.	TEX15	350	.	0			c.T4009G						PASS	.	A	VAL/LEU	3181,1225	696.4+/-406.1	1153,875,175	115	130	125		4009	3.6	0	8	dbSNP_79	125	1010,7588	214.8+/-254.3	66,878,3355	yes	missense	TEX15	NM_031271.3	32	1219,1753,3530	CC,CA,AA		11.7469,27.803,32.2285	possibly-damaging	1337/2790	30702525	4191,8813	2203	4299	6502	SO:0001583	missense	56154	exon1			CTGATAACTGAGG	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.4009T>G	8.37:g.30702525A>C	ENSP00000256246:p.Leu1337Val	Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	169	169	1	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	604	0.2765567765567766	411	0.8353658536585366	61	0.1685082872928177	39	0.06818181818181818	93	0.12269129287598944	A	9.942	1.217641	0.22373	0.72197	0.117469	ENSG00000133863	ENST00000256246	T	0.23552	1.9	6.07	3.57	0.40892	.	0.794140	0.11065	N	0.603508	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	P	0.37122	0.583	B	0.34652	0.187	T	0.12863	-1.0531	9	0.87932	D	0	.	6.4494	0.21896	0.7626:0.1567:0.0807:0.0	rs323344;rs52799274;rs59808187;rs323344	1337	Q9BXT5	TEX15_HUMAN	V	1337	ENSP00000256246:L1337V	ENSP00000256246:L1337V	L	-	1	2	TEX15	30822067	0.008000	0.16893	0.000000	0.03702	0.019000	0.09904	0.681000	0.25320	0.465000	0.27167	0.533000	0.62120	TTA	A|0.701;C|0.299	0.299	strong		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30702525	A	C	30702525	3	2	22	1	0	0	0	0	1	0	0	0	15776	40	2	5	4376	5	TEX15	8	30702525	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	707602	30702525	115661497	4749	9857										
TEX15	56154	hgsc.bcm.edu	37	chr8	30702602	30702602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtttcctgtaataatgTtttgtttgggtctctcaata	9	5	2	0	rs323345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:30702602T>C	ENST00000256246.2	-	1	4006	c.3932A>G	c.(3931-3933)aAc>aGc	p.N1311S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1311			N -> S (in dbSNP:rs323345). {ECO:0000269|PubMed:11279525}.		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)		TGTAATAATGTTTTGTTTGGG	0.358													C|||	1642	0.327875	0.8487	0.1599	5008	,	,		20157	0.0704		0.1272	False		,,,				2504	0.2147				p.N1311S		Atlas-SNP	.											.	TEX15	350	.	0			c.A3932G						PASS	.	C	SER/ASN	3195,1211	399.9+/-331.4	1171,853,179	107	115	113		3932	-7.4	0	8	dbSNP_79	113	1012,7584	765.7+/-407.6	66,880,3352	yes	missense	TEX15	NM_031271.3	46	1237,1733,3531	CC,CT,TT		11.7729,27.4852,32.3566	benign	1311/2790	30702602	4207,8795	2203	4298	6501	SO:0001583	missense	56154	exon1			ATAATGTTTTGTT	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.3932A>G	8.37:g.30702602T>C	ENSP00000256246:p.Asn1311Ser	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	193	192	0.994819	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	605	0.27701465201465203	411	0.8353658536585366	62	0.1712707182320442	39	0.06818181818181818	93	0.12269129287598944	C	3.112	-0.182359	0.06340	0.725148	0.117729	ENSG00000133863	ENST00000256246	T	0.21031	2.03	6.07	-7.43	0.01383	.	0.922343	0.09316	N	0.818928	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	9	0.87932	D	0	.	5.6396	0.17557	0.0937:0.1285:0.1853:0.5925	rs323345;rs52829503;rs60104740;rs323345	1311	Q9BXT5	TEX15_HUMAN	S	1311	ENSP00000256246:N1311S	ENSP00000256246:N1311S	N	-	2	0	TEX15	30822144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.083000	0.03397	-2.295000	0.00662	-0.735000	0.03563	AAC	T|0.707;C|0.293	0.293	strong		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30702602	T	C	30702602	3	2	22	1	0	0	0	0	1	0	0	0	15776	1725	60	2	4453	2	TEX15	8	30702602	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	77	30702602	115661420	4750	9858										
TEX15	56154	hgsc.bcm.edu	37	chr8	30702785	30702785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaagttgcatcacaatcgTtgcctgtactagaatttatg	8	8	1	1	rs61736163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:30702785T>C	ENST00000256246.2	-	1	3823	c.3749A>G	c.(3748-3750)aAc>aGc	p.N1250S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1250					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)		ATCACAATCGTTGCCTGTACT	0.328													T|||	747	0.149161	0.298	0.0677	5008	,	,		20077	0.0575		0.0626	False		,,,				2504	0.1892				p.N1250S		Atlas-SNP	.											.	TEX15	350	.	0			c.A3749G						PASS	.	T	SER/ASN	1136,3270	404.4+/-333.1	138,860,1205	83	79	80		3749	1.2	0	8	dbSNP_129	80	445,8155	133.8+/-191.2	10,425,3865	yes	missense	TEX15	NM_031271.3	46	148,1285,5070	CC,CT,TT		5.1744,25.783,12.1559	benign	1250/2790	30702785	1581,11425	2203	4300	6503	SO:0001583	missense	56154	exon1			CAATCGTTGCCTG	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.3749A>G	8.37:g.30702785T>C	ENSP00000256246:p.Asn1250Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	244	0.11172161172161173	140	0.2845528455284553	23	0.06353591160220995	37	0.06468531468531469	44	0.05804749340369393	T	0.403	-0.917217	0.02415	0.25783	0.051744	ENSG00000133863	ENST00000256246	T	0.21734	1.99	5.03	1.25	0.21368	.	0.574533	0.17844	N	0.160095	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.21452	0.056	B	0.18871	0.023	T	0.40794	-0.9544	9	0.87932	D	0	.	4.4223	0.11486	0.0:0.177:0.1673:0.6556	rs61736163	1250	Q9BXT5	TEX15_HUMAN	S	1250	ENSP00000256246:N1250S	ENSP00000256246:N1250S	N	-	2	0	TEX15	30822327	0.962000	0.33011	0.001000	0.08648	0.074000	0.17049	0.433000	0.21477	0.124000	0.18369	0.533000	0.62120	AAC	T|0.886;C|0.114	0.114	strong		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30702785	T	C	30702785	3	2	22	1	0	0	0	0	1	0	0	0	15776	1725	60	2	4636	2	TEX15	8	30702785	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	183	30702785	115661237	4751	9859										
TEX15	56154	hgsc.bcm.edu	37	chr8	30704725	30704725	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatagtagcactagctatCtgtattgcagcatttgaggc	11	8	1	1	rs62000451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:30704725C>T	ENST00000256246.2	-	1	1883	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	603					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)		CACTAGCTATCTGTATTGCAG	0.388													C|||	743	0.148363	0.2973	0.0677	5008	,	,		20299	0.0575		0.0626	False		,,,				2504	0.1861				p.Q603Q		Atlas-SNP	.											.	TEX15	350	.	0			c.G1809A						PASS	.	C		1135,3271	404.6+/-333.2	137,861,1205	121	114	116		1809	-1.6	0	8	dbSNP_129	116	445,8155	133.9+/-191.4	10,425,3865	no	coding-synonymous	TEX15	NM_031271.3		147,1286,5070	TT,TC,CC		5.1744,25.7603,12.1482		603/2790	30704725	1580,11426	2203	4300	6503	SO:0001819	synonymous_variant	56154	exon1			AGCTATCTGTATT	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.1809G>A	8.37:g.30704725C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																			C|0.886;T|0.114	0.114	strong		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30704725	C	T	30704725	2	4	22	1	0	0	0	0	0	0	0	1	15776	912	32	2		2	TEX15	8	30704725	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1940	30704725	115659297	4752	9860										
WRN	7486	hgsc.bcm.edu	37	chr8	30954338	30954338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgttcaggtaacatgggCctgctccagcaacttgaggc	11	11	1	1	rs11574263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:30954338C>T	ENST00000298139.5	+	17	2202	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	651	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		GTAACATGGGCCTGCTCCAGC	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0				p.G651G	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.C1953T						PASS	.	C		78,4328	67.0+/-104.6	2,74,2127	92	91	91		1953	2.1	0	8	dbSNP_120	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WRN	NM_000553.4		2,76,6425	TT,TC,CC		0.0233,1.7703,0.6151		651/1433	30954338	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	7486	exon17	Familial Cancer Database	WS, Adult Progeria	CATGGGCCTGCTC		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.1953C>T	8.37:g.30954338C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	29	12	0.413793	NM_000553	A1KYY9	Silent	SNP	ENST00000298139.5	37	CCDS6082.1																																																																																			C|0.997;T|0.003	0.003	strong		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			T	30954338	C	T	30954338	2	4	22	1	0	0	0	0	0	0	0	1	17399	726	26	2		2	WRN	8	30954338	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	249613	30954338	115409684	4753	9861										
RNF122	79845	hgsc.bcm.edu	37	chr8	33408901	33408901	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactctgtgcctggttccgCagtttgctgggagaaagaga	13	9	2	2	rs3735949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:33408901C>G	ENST00000256257.1	-	3	590	c.189G>C	c.(187-189)ctG>ctC	p.L63L		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	63						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTGGTTCCGCAGTTTGCTGG	0.493													N|||	833	0.166334	0.416	0.0706	5008	,	,		21478	0.126		0.0268	False		,,,				2504	0.0818				p.L63L		Atlas-SNP	.											.	RNF122	17	.	0			c.G189C						PASS	.	G		1584,2822	665.8+/-401.6	297,990,916	119	105	110		189	2	1	8	dbSNP_107	110	327,8273	804.5+/-407.3	5,317,3978	no	coding-synonymous	RNF122	NM_024787.2		302,1307,4894	GG,GC,CC		3.8023,35.951,14.6932		63/156	33408901	1911,11095	2203	4300	6503	SO:0001819	synonymous_variant	79845	exon3			GTTCCGCAGTTTG	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.189G>C	8.37:g.33408901C>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	130	60	0.461538	NM_024787	Q52LK3	Silent	SNP	ENST00000256257.1	37	CCDS6091.1																																																																																			C|0.864;G|0.136	0.136	strong		0.493	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		G	33408901	C	G	33408901	2	3	22	1	0	0	0	0	0	0	0	1	13432	697	25	4		4	RNF122	8	33408901	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2454563	33408901	112955121	4754	9862										
RNF122	79845	hgsc.bcm.edu	37	chr8	33416189	33416189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacaaagatgcctgtgccGaagatgaccatatagatgtt	10	7	0	5	rs3735950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:33416189G>A	ENST00000256257.1	-	2	527	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	42						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TGCCTGTGCCGAAGATGACCA	0.542													G|||	2488	0.496805	0.6165	0.4496	5008	,	,		19679	0.381		0.5606	False		,,,				2504	0.4223				p.F42F		Atlas-SNP	.											.	RNF122	17	.	0			c.C126T						PASS	.	G		2639,1767	644.8+/-398.1	793,1053,357	123	106	111		126	-6.9	0.7	8	dbSNP_107	111	4837,3763	616.0+/-396.5	1351,2135,814	no	coding-synonymous	RNF122	NM_024787.2		2144,3188,1171	AA,AG,GG		43.7558,40.1044,42.5188		42/156	33416189	7476,5530	2203	4300	6503	SO:0001819	synonymous_variant	79845	exon2			TGTGCCGAAGATG	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.126C>T	8.37:g.33416189G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_024787	Q52LK3	Silent	SNP	ENST00000256257.1	37	CCDS6091.1																																																																																			G|0.454;A|0.546	0.546	strong		0.542	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		A	33416189	G	A	33416189	2	1	22	1	0	0	0	0	0	0	0	1	13432	1049	37	1		1	RNF122	8	33416189	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7288	33416189	112947833	4755	9863										
RNF122	79845	hgsc.bcm.edu	37	chr8	33416222	33416222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagatgttgagcggaaggtcCtggaaactgatgggtggcat	16	5	0	3	rs3735951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:33416222C>T	ENST00000256257.1	-	2	494	c.93G>A	c.(91-93)caG>caA	p.Q31Q		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	31						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GCGGAAGGTCCTGGAAACTGA	0.483													T|||	3057	0.610423	0.8548	0.5029	5008	,	,		20095	0.499		0.5855	False		,,,				2504	0.4969				p.Q31Q		Atlas-SNP	.											.	RNF122	17	.	0			c.G93A						PASS	.	T		3563,843	331.2+/-301.9	1440,683,80	120	109	113		93	-7.7	0.6	8	dbSNP_107	113	5104,3496	511.3+/-377.7	1509,2086,705	no	coding-synonymous	RNF122	NM_024787.2		2949,2769,785	TT,TC,CC		40.6512,19.133,33.3615		31/156	33416222	8667,4339	2203	4300	6503	SO:0001819	synonymous_variant	79845	exon2			AAGGTCCTGGAAA	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.93G>A	8.37:g.33416222C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	67	66	0.985075	NM_024787	Q52LK3	Silent	SNP	ENST00000256257.1	37	CCDS6091.1																																																																																			C|0.357;T|0.643	0.643	strong		0.483	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		T	33416222	C	T	33416222	2	4	22	1	0	0	0	0	0	0	0	1	13432	680	24	2		2	RNF122	8	33416222	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33	33416222	112947800	4756	9864										
UNC5D	137970	hgsc.bcm.edu	37	chr8	35583692	35583692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactccctgctcctgaattcTgccatgcagccagatctgac	7	15	2	3	rs6983275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:35583692T>C	ENST00000404895.2	+	10	1654	c.1326T>C	c.(1324-1326)tcT>tcC	p.S442S	UNC5D_ENST00000287272.2_Silent_p.S373S|UNC5D_ENST00000420357.1_Silent_p.S375S|UNC5D_ENST00000416672.1_Silent_p.S447S|UNC5D_ENST00000453357.2_Silent_p.S437S|UNC5D_ENST00000449677.1_Silent_p.S18S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	442					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCTGAATTCTGCCATGCAGC	0.488													C|||	1036	0.206869	0.5015	0.1499	5008	,	,		19125	0.1002		0.0199	False		,,,				2504	0.1513				p.S442S		Atlas-SNP	.											.	UNC5D	393	.	0			c.T1326C						PASS	.	C		1848,2558	624.3+/-394.3	371,1106,726	63	65	65		1326	0.8	1	8	dbSNP_116	65	147,8453	795.8+/-407.5	3,141,4156	no	coding-synonymous	UNC5D	NM_080872.2		374,1247,4882	CC,CT,TT		1.7093,41.9428,15.3391		442/954	35583692	1995,11011	2203	4300	6503	SO:0001819	synonymous_variant	137970	exon10			GAATTCTGCCATG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1326T>C	8.37:g.35583692T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	81	36	0.444444	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			T|0.826;C|0.174	0.174	strong		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			C	35583692	T	C	35583692	2	2	22	1	0	0	0	0	0	0	0	1	16992	1567	55	3		3	UNC5D	8	35583692	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2167470	35583692	110780330	4757	9865										
UNC5D	137970	hgsc.bcm.edu	37	chr8	35583815	35583815	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgtcggacatcaaagtGaaagtccagagctcgttcat	9	10	2	2	rs6996645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:35583815G>C	ENST00000404895.2	+	10	1777	c.1449G>C	c.(1447-1449)gtG>gtC	p.V483V	UNC5D_ENST00000453357.2_Silent_p.V478V|UNC5D_ENST00000420357.1_Silent_p.V416V|UNC5D_ENST00000287272.2_Silent_p.V414V|UNC5D_ENST00000416672.1_Silent_p.V488V|UNC5D_ENST00000449677.1_Silent_p.V59V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	483					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACATCAAAGTGAAAGTCCAGA	0.517													C|||	1034	0.20647	0.5	0.1499	5008	,	,		17632	0.1002		0.0199	False		,,,				2504	0.1513				p.V483V		Atlas-SNP	.											.	UNC5D	393	.	0			c.G1449C						PASS	.	C		1844,2562	634.9+/-396.3	370,1104,729	67	66	66		1449	5.2	1	8	dbSNP_116	66	148,8452	812.4+/-407.1	3,142,4155	no	coding-synonymous	UNC5D	NM_080872.2		373,1246,4884	CC,CG,GG		1.7209,41.852,15.316		483/954	35583815	1992,11014	2203	4300	6503	SO:0001819	synonymous_variant	137970	exon10			CAAAGTGAAAGTC	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1449G>C	8.37:g.35583815G>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			G|0.839;C|0.161	0.161	strong		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			C	35583815	G	C	35583815	2	2	22	1	0	0	0	0	0	0	0	1	16992	1277	45	4		4	UNC5D	8	35583815	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	123	35583815	110780207	4758	9866										
UNC5D	137970	hgsc.bcm.edu	37	chr8	35606168	35606168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagatgtcagttctgagcaTtggaatatccatttaaagaa	9	6	2	3	rs1436615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:35606168T>C	ENST00000404895.2	+	12	2218	c.1890T>C	c.(1888-1890)caT>caC	p.H630H	UNC5D_ENST00000287272.2_Silent_p.H561H|UNC5D_ENST00000420357.1_Silent_p.H563H|UNC5D_ENST00000416672.1_Silent_p.H635H|UNC5D_ENST00000453357.2_Silent_p.H625H|UNC5D_ENST00000449677.1_Silent_p.H206H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	630	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTTCTGAGCATTGGAATATCC	0.488													C|||	480	0.0958466	0.2995	0.0331	5008	,	,		17501	0.0		0.0089	False		,,,				2504	0.0532				p.H630H		Atlas-SNP	.											UNC5D_ENST00000404895,caecum,carcinoma,-2,3	UNC5D	393	3	0			c.T1890C						scavenged	.	C		1067,3339	723.2+/-409.4	146,775,1282	153	136	142		1890	5.2	1	8	dbSNP_88	142	121,8479	814.0+/-407.0	2,117,4181	no	coding-synonymous	UNC5D	NM_080872.2		148,892,5463	CC,CT,TT		1.407,24.217,9.1342		630/954	35606168	1188,11818	2203	4300	6503	SO:0001819	synonymous_variant	137970	exon12			TGAGCATTGGAAT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1890T>C	8.37:g.35606168T>C		Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	146	63	0.431507	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			T|0.896;C|0.104	0.104	strong		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			C	35606168	T	C	35606168	2	2	22	1	0	0	0	0	0	0	0	1	16992	1490	52	2		2	UNC5D	8	35606168	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22353	35606168	110757854	4759	9867										
UNC5D	137970	hgsc.bcm.edu	37	chr8	35624434	35624434	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaggaagtcccgttctcCcgcgtgtggtgcagtaaccg	13	13	1	0	rs16884404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:35624434C>A	ENST00000404895.2	+	15	2656	c.2328C>A	c.(2326-2328)tcC>tcA	p.S776S	UNC5D_ENST00000287272.2_Silent_p.S707S|UNC5D_ENST00000420357.1_Silent_p.S709S|UNC5D_ENST00000416672.1_Silent_p.S781S|UNC5D_ENST00000453357.2_Silent_p.S771S|UNC5D_ENST00000449677.1_Silent_p.S352S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	776					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCCGTTCTCCCGCGTGTGGT	0.567													C|||	511	0.102037	0.3215	0.036	5008	,	,		18566	0.0		0.0099	False		,,,				2504	0.0521				p.S776S		Atlas-SNP	.											.	UNC5D	393	.	0			c.C2328A						PASS	.	C		1129,3277	403.5+/-332.8	162,805,1236	88	76	80		2328	2.4	1	8	dbSNP_123	80	121,8479	62.8+/-124.8	2,117,4181	no	coding-synonymous	UNC5D	NM_080872.2		164,922,5417	AA,AC,CC		1.407,25.6241,9.6109		776/954	35624434	1250,11756	2203	4300	6503	SO:0001819	synonymous_variant	137970	exon15			GTTCTCCCGCGTG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2328C>A	8.37:g.35624434C>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	122	51	0.418033	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			C|0.891;A|0.109	0.109	strong		0.567	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35624434	C	A	35624434	2	1	22	1	0	0	0	0	0	0	0	1	16992	610	22	4		4	UNC5D	8	35624434	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18266	35624434	110739588	4760	9868										
KCNU1	157855	hgsc.bcm.edu	37	chr8	36767024	36767024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagagaatggcgatttctcTggaattttccccagatatac	9	8	1	3	rs28608091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:36767024T>C	ENST00000399881.3	+	21	2339	c.2302T>C	c.(2302-2304)Tgg>Cgg	p.W768R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	768			W -> R (in dbSNP:rs28608091).		multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCGATTTCTCTGGAATTTTCC	0.363													C|||	1902	0.379792	0.3268	0.4827	5008	,	,		16997	0.376		0.4006	False		,,,				2504	0.3609				p.W768R		Atlas-SNP	.											.	KCNU1	359	.	0			c.T2302C						PASS	.	C	ARG/TRP	1230,2436		205,820,808	115	114	114		2302	2.6	1	8	dbSNP_125	114	3255,4909		659,1937,1486	yes	missense	KCNU1	NM_001031836.2	101	864,2757,2294	CC,CT,TT		39.8702,33.5516,37.9121	benign	768/1150	36767024	4485,7345	1833	4082	5915	SO:0001583	missense	157855	exon21			TTTCTCTGGAATT	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2302T>C	8.37:g.36767024T>C	ENSP00000382770:p.Trp768Arg	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	108	57	0.527778	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	811	0.37133699633699635	144	0.2926829268292683	169	0.46685082872928174	203	0.3548951048951049	295	0.3891820580474934	C	0.875	-0.730645	0.03135	0.335516	0.398702	ENSG00000215262	ENST00000399881	T	0.39787	1.06	5.8	2.64	0.31445	.	0.229234	0.21687	N	0.070624	T	0.00012	0.0000	N	0.01267	-0.92	0.09310	P	0.99999999579857	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	9	0.06494	T	0.89	-4.8224	8.6358	0.33948	0.2308:0.6384:0.0:0.1308	rs28608091	768	A8MYU2	KCNU1_HUMAN	R	768	ENSP00000382770:W768R	ENSP00000382770:W768R	W	+	1	0	KCNU1	36886182	0.670000	0.27512	0.979000	0.43373	0.017000	0.09413	1.370000	0.34238	0.356000	0.24157	-0.119000	0.15052	TGG	T|0.627;C|0.373	0.373	strong		0.363	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		C	36767024	T	C	36767024	3	2	22	1	0	0	0	0	1	0	0	0	8093	1580	55	3	2384	3	KCNU1	8	36767024	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1142590	36767024	109596998	4761	9869										
KCNU1	157855	hgsc.bcm.edu	37	chr8	36788479	36788479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttccaggccttctacaAttatcatgtcctggaattgc	7	10	2	0	rs16885577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:36788479A>G	ENST00000399881.3	+	25	2784	c.2747A>G	c.(2746-2748)aAt>aGt	p.N916S	KCNU1_ENST00000518904.1_Silent_p.Q27Q	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	916			N -> S (in dbSNP:rs16885577).		multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCTTCTACAATTATCATGTC	0.443													A|||	1067	0.213059	0.2526	0.1599	5008	,	,		18427	0.1786		0.1322	False		,,,				2504	0.316				p.N916S		Atlas-SNP	.											.	KCNU1	359	.	0			c.A2747G						PASS	.	A	SER/ASN	997,2895		136,725,1085	73	65	68		2747	5.6	1	8	dbSNP_123	68	1337,6967		107,1123,2922	yes	missense	KCNU1	NM_001031836.2	46	243,1848,4007	GG,GA,AA		16.1007,25.6166,19.1374	probably-damaging	916/1150	36788479	2334,9862	1946	4152	6098	SO:0001583	missense	157855	exon25			TCTACAATTATCA	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2747A>G	8.37:g.36788479A>G	ENSP00000382770:p.Asn916Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	21	0.381818	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	405	0.18543956043956045	117	0.23780487804878048	65	0.17955801104972377	114	0.1993006993006993	109	0.1437994722955145	A	10.57	1.388271	0.25118	0.256166	0.161007	ENSG00000215262	ENST00000399881	T	0.41400	1.0	5.58	5.58	0.84498	.	0.000000	0.40728	U	0.001031	T	0.00012	0.0000	M	0.79123	2.44	0.09310	P	1.0	D	0.89917	1.0	D	0.78314	0.991	T	0.03240	-1.1057	9	0.87932	D	0	-0.0157	13.117	0.59305	1.0:0.0:0.0:0.0	rs16885577;rs56708487;rs16885577	916	A8MYU2	KCNU1_HUMAN	S	916	ENSP00000382770:N916S	ENSP00000382770:N916S	N	+	2	0	KCNU1	36907637	1.000000	0.71417	0.984000	0.44739	0.602000	0.36980	4.563000	0.60823	2.121000	0.65114	0.528000	0.53228	AAT	A|0.799;G|0.201	0.201	strong		0.443	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		G	36788479	A	G	36788479	3	3	22	1	0	0	0	0	1	0	0	0	8093	101	4	2	2845	2	KCNU1	8	36788479	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21455	36788479	109575543	4762	9870										
GPR124	25960	hgsc.bcm.edu	37	chr8	37690615	37690615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctgggcgggggtgccccGggcacccgagcctcccgccg	16	20	0	0	rs61738775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:37690615G>A	ENST00000412232.2	+	9	1198	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	GPR124_ENST00000315215.7_Silent_p.P395P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	395					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGGTGCCCCGGGCACCCGAG	0.682													G|||	321	0.0640974	0.2284	0.0159	5008	,	,		11914	0.005		0.002	False		,,,				2504	0.001				p.P395P		Atlas-SNP	.											.	GPR124	85	.	0			c.G1185A						PASS	.	G		846,3560	318.5+/-295.7	69,708,1426	41	47	45		1185	-10.2	0.3	8	dbSNP_129	45	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous	GPR124	NM_032777.9		69,716,5718	AA,AG,GG		0.093,19.2011,6.5662		395/1339	37690615	854,12152	2203	4300	6503	SO:0001819	synonymous_variant	25960	exon9			TGCCCCGGGCACC	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1185G>A	8.37:g.37690615G>A		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	17	15	0.882353	NM_032777	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			G|0.934;A|0.066	0.066	strong		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			A	37690615	G	A	37690615	2	1	22	1	0	0	0	0	0	0	0	1	6638	1103	39	1		1	GPR124	8	37690615	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	902136	37690615	108673407	4763	9871										
WHSC1L1	54904	hgsc.bcm.edu	37	chr8	38205133	38205133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttcatgctttgatttcGtgtgctcacttgcctgtact	8	10	2	1	rs13034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:38205133G>A	ENST00000317025.8	-	2	1074	c.557C>T	c.(556-558)aCg>aTg	p.T186M	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.T186M|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.T186M|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.T186M	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	186			T -> M (in dbSNP:rs13034).		histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTTGATTTCGTGTGCTCACT	0.373			T	NUP98	AML								G|||	74	0.0147764	0.0552	0.0014	5008	,	,		19666	0.0		0.0	False		,,,				2504	0.0				p.T186M		Atlas-SNP	.		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	WHSC1L1	137	.	0			c.C557T						PASS	.	G	MET/THR,MET/THR	236,4170	139.6+/-175.2	5,226,1972	179	163	168		557,557	3	1	8	dbSNP_52	168	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	WHSC1L1	NM_017778.2,NM_023034.1	81,81	5,228,6270	AA,AG,GG		0.0233,5.3563,1.8299	benign,benign	186/646,186/1438	38205133	238,12768	2203	4300	6503	SO:0001583	missense	54904	exon2			GATTTCGTGTGCT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.557C>T	8.37:g.38205133G>A	ENSP00000313983:p.Thr186Met	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	189	86	0.455026	NM_017778	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	G	10.27	1.303287	0.23736	0.053563	2.33E-4	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95238	-3.64;-3.65;-3.65;-0.15;0.87	5.7	2.96	0.34315	.	0.453371	0.17834	U	0.160431	T	0.65719	0.2718	L	0.29908	0.895	0.33540	D	0.594756	B;B;B;B	0.25390	0.125;0.079;0.078;0.06	B;B;B;B	0.18561	0.008;0.009;0.022;0.005	T	0.79662	-0.1710	10	0.66056	D	0.02	.	11.7413	0.51794	0.1932:0.0:0.8068:0.0	rs13034	186;186;186;186	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	M	186;186;123;186;186;186	ENSP00000393284:T186M;ENSP00000313983:T186M;ENSP00000434730:T186M;ENSP00000313410:T186M;ENSP00000435422:T186M	ENSP00000313410:T186M	T	-	2	0	WHSC1L1	38324290	0.999000	0.42202	0.997000	0.53966	0.896000	0.52359	1.040000	0.30278	0.348000	0.23949	-0.916000	0.02749	ACG	G|0.983;A|0.017	0.017	strong		0.373	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		A	38205133	G	A	38205133	3	1	22	1	0	0	0	0	1	0	0	0	17360	1145	40	1	3935	1	WHSC1L1	8	38205133	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	514518	38205133	108158889	4764	9872										
TACC1	6867	hgsc.bcm.edu	37	chr8	38677242	38677242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagaaacgaaggattccacGgatatctcggcagtcctcgg	11	10	1	1	rs16887780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:38677242G>A	ENST00000317827.4	+	3	859	c.480G>A	c.(478-480)acG>acA	p.T160T	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Silent_p.T176T|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520340.1_Silent_p.T124T|TACC1_ENST00000379931.3_Silent_p.T160T|TACC1_ENST00000518415.1_Silent_p.T115T|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	160	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGGATTCCACGGATATCTCGG	0.493													G|||	61	0.0121805	0.0454	0.0014	5008	,	,		20225	0.0		0.0	False		,,,				2504	0.0				p.T160T		Atlas-SNP	.											.	TACC1	98	.	0			c.G480A						PASS	.	G	,,	120,4286	89.7+/-128.4	1,118,2084	101	101	101		,,480	-1.6	0	8	dbSNP_123	101	1,8599	1.2+/-3.3	0,1,4299	yes	intron,utr-5,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	1,119,6383	AA,AG,GG		0.0116,2.7236,0.9303	,,	,,160/806	38677242	121,12885	2203	4300	6503	SO:0001819	synonymous_variant	6867	exon3			TTCCACGGATATC	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.480G>A	8.37:g.38677242G>A		Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	230	117	0.508696	NM_006283	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	CCDS6109.1																																																																																			G|0.991;A|0.009	0.009	strong		0.493	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		A	38677242	G	A	38677242	2	1	22	1	0	0	0	0	0	0	0	1	15498	1103	39	1		1	TACC1	8	38677242	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	472109	38677242	107686780	4765	9873										
TACC1	6867	hgsc.bcm.edu	37	chr8	38684853	38684853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaatgttccaatgttccTgtgtctaccataaatcatgc	6	9	2	1	rs2037204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:38684853T>C	ENST00000317827.4	+	5	1999	c.1620T>C	c.(1618-1620)ccT>ccC	p.P540P	TACC1_ENST00000518415.1_Intron|TACC1_ENST00000348567.4_Silent_p.P102P|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000379931.3_Silent_p.P552P|TACC1_ENST00000520615.1_Silent_p.P345P|TACC1_ENST00000330691.6_Silent_p.P114P|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000276520.8_Silent_p.P130P|TACC1_ENST00000519416.1_Silent_p.P344P|TACC1_ENST00000520340.1_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	540					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCAATGTTCCTGTGTCTACCA	0.443													C|||	1657	0.330871	0.4002	0.2839	5008	,	,		23795	0.2698		0.3897	False		,,,				2504	0.273				p.P540P		Atlas-SNP	.											.	TACC1	98	.	0			c.T1620C						PASS	.	C	,,	1678,2728	656.0+/-400.0	315,1048,840	209	159	176		390,1035,1620	-10.9	0	8	dbSNP_94	176	3602,4998	626.7+/-397.9	773,2056,1471	no	coding-synonymous,coding-synonymous,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	1088,3104,2311	CC,CT,TT		41.8837,38.0844,40.5966	,,	130/396,345/611,540/806	38684853	5280,7726	2203	4300	6503	SO:0001819	synonymous_variant	6867	exon5			TGTTCCTGTGTCT	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1620T>C	8.37:g.38684853T>C		Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	299	117	0.391304	NM_006283	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	CCDS6109.1	763	0.34935897435897434	203	0.41260162601626016	106	0.292817679558011	154	0.2692307692307692	300	0.39577836411609496	C	5.060	0.196794	0.09599	0.380844	0.418837	ENSG00000147526	ENST00000518809	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20563	P	0.999885482	.	.	.	.	.	.	T	0.50285	-0.8846	3	.	.	.	-6.3423	21.8296	0.99961	0.0:0.2203:0.0:0.7797	rs2037204;rs3739250;rs58345429;rs2037204	.	.	.	P	190	.	.	L	+	2	0	TACC1	38804010	0.000000	0.05858	0.030000	0.17652	0.696000	0.40369	-4.510000	0.00223	-3.618000	0.00131	-2.575000	0.00170	CTG	T|0.626;C|0.374	0.374	strong		0.443	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		C	38684853	T	C	38684853	2	2	22	1	0	0	0	0	0	0	0	1	15498	1567	55	3		3	TACC1	8	38684853	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7611	38684853	107679169	4766	9874										
ADAM32	203102	hgsc.bcm.edu	37	chr8	39091526	39091526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagattctgtatgcataacTgtagactacaaattgcctcg	8	9	1	2	rs4515515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39091526T>C	ENST00000379907.4	+	16	1870	c.1743T>C	c.(1741-1743)acT>acC	p.T581T	ADAM32_ENST00000437682.2_Silent_p.T482T|ADAM32_ENST00000519315.1_Silent_p.T475T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	581						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATGCATAACTGTAGACTACA	0.373													T|||	1081	0.215855	0.1233	0.2133	5008	,	,		13078	0.2937		0.2396	False		,,,				2504	0.2382				p.T581T		Atlas-SNP	.											ADAM32,NS,carcinoma,0,1	ADAM32	70	1	0			c.T1743C						PASS	.	T		552,3160		55,442,1359	71	62	65		1743	1	0	8	dbSNP_111	65	1959,6219		244,1471,2374	no	coding-synonymous	ADAM32	NM_145004.5		299,1913,3733	CC,CT,TT		23.9545,14.8707,21.1186		581/788	39091526	2511,9379	1856	4089	5945	SO:0001819	synonymous_variant	203102	exon16			CATAACTGTAGAC	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1743T>C	8.37:g.39091526T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	117	59	0.504274	NM_145004	Q8TC42	Silent	SNP	ENST00000379907.4	37	CCDS47846.1																																																																																			T|0.781;C|0.219	0.219	strong		0.373	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		C	39091526	T	C	39091526	2	2	22	1	0	0	0	0	0	0	0	1	249	1567	55	3		3	ADAM32	8	39091526	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	406673	39091526	107272496	4767	9875										
ADAM32	203102	hgsc.bcm.edu	37	chr8	39091546	39091546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtagactacaaattgcctcGaacagttccagatccactgg	8	11	0	2	rs114068623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39091546G>A	ENST00000379907.4	+	16	1890	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	ADAM32_ENST00000437682.2_Missense_Mutation_p.R489Q|ADAM32_ENST00000519315.1_Missense_Mutation_p.R482Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	588						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAATTGCCTCGAACAGTTCCA	0.353													G|||	42	0.00838658	0.0318	0.0	5008	,	,		13545	0.0		0.0	False		,,,				2504	0.0				p.R588Q		Atlas-SNP	.											.	ADAM32	70	.	0			c.G1763A						PASS	.	G	GLN/ARG	96,3584		1,94,1745	63	55	58		1763	-9.3	0	8	dbSNP_132	58	0,8154		0,0,4077	yes	missense	ADAM32	NM_145004.5	43	1,94,5822	AA,AG,GG		0.0,2.6087,0.8112	possibly-damaging	588/788	39091546	96,11738	1840	4077	5917	SO:0001583	missense	203102	exon16			TGCCTCGAACAGT	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1763G>A	8.37:g.39091546G>A	ENSP00000369238:p.Arg588Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	82	46	0.560976	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	G	5.640	0.302788	0.10678	0.026087	0.0	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.21361	2.01;2.01;2.01	4.66	-9.32	0.00643	ADAM, cysteine-rich (2);	10.959300	0.00735	U	0.000979	T	0.01905	0.0060	N	0.05383	-0.06	0.09310	N	1	P;P;P	0.51351	0.559;0.944;0.694	B;B;B	0.38755	0.148;0.281;0.067	T	0.41034	-0.9531	10	0.11182	T	0.66	.	2.6264	0.04930	0.1635:0.1349:0.4716:0.23	.	489;482;588	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	489;482;588	ENSP00000405978:R489Q;ENSP00000429422:R482Q;ENSP00000369238:R588Q	ENSP00000369238:R588Q	R	+	2	0	ADAM32	39210703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.001000	0.00652	-2.751000	0.00374	-0.781000	0.03364	CGA	G|0.990;A|0.010	0.010	strong		0.353	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39091546	G	A	39091546	3	1	22	1	0	0	0	0	1	0	0	0	249	1058	37	1	1825	1	ADAM32	8	39091546	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	39091546	107272476	4768	9876										
ADAM32	203102	hgsc.bcm.edu	37	chr8	39141120	39141120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttagatccaaatcacaggaCagtacccaaacacaaagcag	6	12	1	1	rs28705715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39141120C>A	ENST00000379907.4	+	24	2461	c.2334C>A	c.(2332-2334)gaC>gaA	p.D778E	ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000437682.2_Missense_Mutation_p.D679E|ADAM32_ENST00000519315.1_Missense_Mutation_p.D620E	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	778			D -> E (in dbSNP:rs28705715).			integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AATCACAGGACAGTACCCAAA	0.269													A|||	648	0.129393	0.4357	0.0375	5008	,	,		14029	0.0377		0.006	False		,,,				2504	0.002				p.D778E		Atlas-SNP	.											.	ADAM32	70	.	0			c.C2334A						PASS	.	A	GLU/ASP	1238,2366		234,770,798	67	69	69		2334	2.8	0.2	8	dbSNP_125	69	32,8104		1,30,4037	yes	missense	ADAM32	NM_145004.5	45	235,800,4835	AA,AC,CC		0.3933,34.3507,10.8177	benign	778/788	39141120	1270,10470	1802	4068	5870	SO:0001583	missense	203102	exon24			ACAGGACAGTACC	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2334C>A	8.37:g.39141120C>A	ENSP00000369238:p.Asp778Glu	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	195	193	0.989744	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	236	0.10805860805860806	201	0.40853658536585363	14	0.03867403314917127	18	0.03146853146853147	3	0.00395778364116095	A	1.791	-0.479607	0.04383	0.343507	0.003933	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87256	-2.18;-2.23;-2.18	3.99	2.85	0.33270	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	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	0.16541	-1.0399	8	0.02654	T	1	.	4.1598	0.10278	0.6831:0.2098:0.1071:0.0	rs28705715	679;150;620;778	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	E	679;620;778	ENSP00000405978:D679E;ENSP00000429422:D620E;ENSP00000369238:D778E	ENSP00000369238:D778E	D	+	3	2	ADAM32	39260277	0.000000	0.05858	0.152000	0.22495	0.456000	0.32438	-0.152000	0.10159	0.373000	0.24621	-0.256000	0.11100	GAC	C|0.914;A|0.086	0.086	strong		0.269	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39141120	C	A	39141120	3	1	22	1	0	0	0	0	1	0	0	0	249	477	17	4	2428	4	ADAM32	8	39141120	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49574	39141120	107222902	4769	9877										
ADAM18	8749	hgsc.bcm.edu	37	chr8	39468128	39468128	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgagcatataatttatcAaatgaaaaataatgatccaa	4	4	1	3	rs73605945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39468128A>T	ENST00000265707.5	+	6	470	c.425A>T	c.(424-426)cAa>cTa	p.Q142L	ADAM18_ENST00000520772.1_Missense_Mutation_p.Q142L|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.Q142L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	142					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATAATTTATCAAATGAAAAAT	0.328													A|||	181	0.0361422	0.1203	0.0144	5008	,	,		15463	0.0		0.0089	False		,,,				2504	0.0031				p.Q142L		Atlas-SNP	.											.	ADAM18	169	.	0			c.A425T						PASS	.	A	LEU/GLN,LEU/GLN	505,3901	221.7+/-238.7	22,461,1720	47	49	48		425,425	4.1	1	8	dbSNP_130	48	49,8547	29.0+/-79.6	0,49,4249	yes	missense,missense	ADAM18	NM_001190956.1,NM_014237.2	113,113	22,510,5969	TT,TA,AA		0.57,11.4616,4.2609	probably-damaging,probably-damaging	142/183,142/740	39468128	554,12448	2203	4298	6501	SO:0001583	missense	8749	exon6			TTTATCAAATGAA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.425A>T	8.37:g.39468128A>T	ENSP00000265707:p.Gln142Leu	Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	280	125	0.446429	NM_001190956	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	75	0.034340659340659344	66	0.13414634146341464	6	0.016574585635359115	0	0.0	3	0.00395778364116095	A	15.82	2.946102	0.53079	0.114616	0.0057	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.12465	5.29;4.82;2.68	5.25	4.07	0.47477	.	0.000000	0.47093	D	0.000245	T	0.00144	0.0004	N	0.08118	0	0.80722	D	1	D;D;D	0.63046	0.98;0.967;0.992	P;P;P	0.60286	0.872;0.749;0.84	T	0.34179	-0.9839	10	0.41790	T	0.15	.	7.8609	0.29509	0.9058:0.0:0.0942:0.0	.	142;142;142	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	L	142;142;142;98	ENSP00000265707:Q142L;ENSP00000369195:Q142L;ENSP00000429908:Q142L	ENSP00000265707:Q142L	Q	+	2	0	ADAM18	39587285	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	2.766000	0.47629	2.206000	0.71126	0.533000	0.62120	CAA	A|0.964;T|0.036	0.036	strong		0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		T	39468128	A	T	39468128	3	4	22	1	0	0	0	0	1	0	0	0	239	130	5	5	447	5	ADAM18	8	39468128	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	327008	39468128	106895894	4770	9878										
ADAM18	8749	hgsc.bcm.edu	37	chr8	39537616	39537616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatgctaataaaagtgaCgctcaatctacagtttattc	5	7	2	1	rs28454772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39537616C>T	ENST00000265707.5	+	16	1737	c.1692C>T	c.(1690-1692)gaC>gaT	p.D564D	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.D540D	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	564	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATAAAAGTGACGCTCAATCTA	0.383													c|||	402	0.0802716	0.2723	0.0317	5008	,	,		19440	0.002		0.0099	False		,,,				2504	0.0082				p.D564D		Atlas-SNP	.											ADAM18,colon,carcinoma,0,1	ADAM18	169	1	0			c.C1692T						PASS	.	A		1031,3375	381.6+/-324.1	128,775,1300	113	101	105		1692	0.3	0	8	dbSNP_125	105	60,8540	35.9+/-90.5	0,60,4240	no	coding-synonymous	ADAM18	NM_014237.2		128,835,5540	TT,TC,CC		0.6977,23.3999,8.3884		564/740	39537616	1091,11915	2203	4300	6503	SO:0001819	synonymous_variant	8749	exon16			AAGTGACGCTCAA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1692C>T	8.37:g.39537616C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	127	67	0.527559	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	CCDS6113.1																																																																																			C|0.914;T|0.086	0.086	strong		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		T	39537616	C	T	39537616	2	4	22	1	0	0	0	0	0	0	0	1	239	535	19	1		1	ADAM18	8	39537616	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69488	39537616	106826406	4771	9879										
ADAM18	8749	hgsc.bcm.edu	37	chr8	39581395	39581395	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagaaatgaaataagtaaaTcatgtaacagagagaatgca	8	3	1	4	rs79109719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39581395T>A	ENST00000265707.5	+	19	2191	c.2146T>A	c.(2146-2148)Tca>Aca	p.S716T	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.S130T|ADAM18_ENST00000379866.1_Missense_Mutation_p.S692T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	716					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AATAAGTAAATCATGTAACAG	0.308													T|||	141	0.028155	0.0998	0.0101	5008	,	,		14093	0.0		0.002	False		,,,				2504	0.0				p.S716T		Atlas-SNP	.											.	ADAM18	169	.	0			c.T2146A						PASS	.		THR/SER	403,4001	192.3+/-217.7	22,359,1821	99	104	102		2146	2.3	0	8	dbSNP_131	102	3,8591	2.2+/-6.3	0,3,4294	yes	missense	ADAM18	NM_014237.2	58	22,362,6115	AA,AT,TT		0.0349,9.1508,3.1236	benign	716/740	39581395	406,12592	2202	4297	6499	SO:0001583	missense	8749	exon19			AGTAAATCATGTA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2146T>A	8.37:g.39581395T>A	ENSP00000265707:p.Ser716Thr	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	57	0.0260989010989011	51	0.10365853658536585	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	4.809	0.150384	0.09185	0.091508	3.49E-4	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93366	-3.21;-3.21;-3.21	4.77	2.32	0.28847	.	2.401010	0.01912	N	0.039915	T	0.34135	0.0887	L	0.56769	1.78	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.33960	0.173;0.084	T	0.61778	-0.6993	10	0.22706	T	0.39	.	5.2918	0.15731	0.0:0.0953:0.1793:0.7254	.	692;716	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	716;692;130	ENSP00000265707:S716T;ENSP00000369195:S692T;ENSP00000444729:S130T	ENSP00000265707:S716T	S	+	1	0	ADAM18	39700552	0.004000	0.15560	0.003000	0.11579	0.007000	0.05969	0.525000	0.22956	0.376000	0.24707	0.451000	0.29950	TCA	T|0.968;A|0.032	0.032	strong		0.308	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		A	39581395	T	A	39581395	3	1	22	1	0	0	0	0	1	0	0	0	239	1435	50	5	2220	5	ADAM18	8	39581395	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43779	39581395	106782627	4772	9880										
ADAM18	8749	hgsc.bcm.edu	37	chr8	39581417	39581417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtaacagagagaatgcagAgtataatcggtaaatatgat	10	3	0	4	rs76378145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39581417A>G	ENST00000265707.5	+	19	2213	c.2168A>G	c.(2167-2169)gAg>gGg	p.E723G	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.E137G|ADAM18_ENST00000379866.1_Missense_Mutation_p.E699G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	723					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAGAATGCAGAGTATAATCGG	0.274													A|||	127	0.0253594	0.0893	0.0101	5008	,	,		14686	0.0		0.002	False		,,,				2504	0.0				p.E723G		Atlas-SNP	.											.	ADAM18	169	.	0			c.A2168G						PASS	.		GLY/GLU	371,4033	172.3+/-202.3	20,331,1851	84	89	87		2168	3.6	0	8	dbSNP_132	87	2,8588	2.2+/-6.3	0,2,4293	yes	missense	ADAM18	NM_014237.2	98	20,333,6144	GG,GA,AA		0.0233,8.4242,2.8706	benign	723/740	39581417	373,12621	2202	4295	6497	SO:0001583	missense	8749	exon19			ATGCAGAGTATAA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2168A>G	8.37:g.39581417A>G	ENSP00000265707:p.Glu723Gly	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	51	0.023351648351648352	45	0.09146341463414634	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	a	9.078	0.998571	0.19121	0.084242	2.33E-4	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93953	-3.32;-3.32;-3.32	4.77	3.61	0.41365	.	0.638567	0.13741	N	0.365922	T	0.38241	0.1033	M	0.68593	2.085	0.09310	N	1	B;B	0.27910	0.193;0.046	B;B	0.27170	0.077;0.035	T	0.67333	-0.5697	10	0.52906	T	0.07	.	7.6055	0.28100	0.9001:0.0:0.0999:0.0	.	699;723	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	G	723;699;137	ENSP00000265707:E723G;ENSP00000369195:E699G;ENSP00000444729:E137G	ENSP00000265707:E723G	E	+	2	0	ADAM18	39700574	0.174000	0.23070	0.007000	0.13788	0.001000	0.01503	2.076000	0.41548	0.933000	0.37291	-0.393000	0.06486	GAG	A|0.972;G|0.028	0.028	strong		0.274	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		G	39581417	A	G	39581417	3	3	22	1	0	0	0	0	1	0	0	0	239	304	11	3	2242	3	ADAM18	8	39581417	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22	39581417	106782605	4773	9881										
IDO2	169355	hgsc.bcm.edu	37	chr8	39871135	39871135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatgtatgaaggagtttcCcaagagcccctgaaatactc	9	10	0	4	rs2001923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39871135C>T	ENST00000389060.4	+	9	771	c.771C>T	c.(769-771)tcC>tcT	p.S257S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Silent_p.S270S			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	257					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAGGAGTTTCCCAAGAGCCCC	0.498													C|||	381	0.0760783	0.1785	0.0692	5008	,	,		17581	0.002		0.0577	False		,,,				2504	0.0378				p.S270S		Atlas-SNP	.											IDO2_ENST00000502986,trunk,malignant_melanoma,+1,1	IDO2	78	1	0			c.C810T						PASS	.	C		646,3172		54,538,1317	103	99	100		810	-4	0	8	dbSNP_92	100	462,7788		13,436,3676	no	coding-synonymous	IDO2	NM_194294.2		67,974,4993	TT,TC,CC		5.6,16.9199,9.1813		270/421	39871135	1108,10960	1909	4125	6034	SO:0001819	synonymous_variant	169355	exon10			AGTTTCCCAAGAG	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.771C>T	8.37:g.39871135C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_194294	A4UD41	Silent	SNP	ENST00000389060.4	37																																																																																				C|0.932;T|0.068	0.068	strong		0.498	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		T	39871135	C	T	39871135	2	4	22	1	0	0	0	0	0	0	0	1	7502	610	22	2		2	IDO2	8	39871135	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	289718	39871135	106492887	4774	9882										
IDO2	169355	hgsc.bcm.edu	37	chr8	39873053	39873053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggggcacaggtggaaccGcagttatgagctttcttaag	13	8	1	1	rs72632016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:39873053G>A	ENST00000389060.4	+	10	1156	c.1156G>A	c.(1156-1158)Gca>Aca	p.A386T	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.A399T			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	386					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGGTGGAACCGCAGTTATGAG	0.542													G|||	403	0.0804712	0.1884	0.0634	5008	,	,		20875	0.0119		0.0527	False		,,,				2504	0.046				p.A399T		Atlas-SNP	.											.	IDO2	78	.	0			c.G1195A						PASS	.	G	THR/ALA	714,3226		64,586,1320	115	113	114		1195	1.1	0	8	dbSNP_130	114	431,7867		11,409,3729	yes	missense	IDO2	NM_194294.2	58	75,995,5049	AA,AG,GG		5.194,18.1218,9.3561	benign	399/421	39873053	1145,11093	1970	4149	6119	SO:0001583	missense	169355	exon11			GGAACCGCAGTTA	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1156G>A	8.37:g.39873053G>A	ENSP00000426447:p.Ala386Thr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	120	57	0.475	NM_194294	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		168	0.07692307692307693	94	0.1910569105691057	25	0.06906077348066299	9	0.015734265734265736	40	0.052770448548812667	G	2.319	-0.355979	0.05138	0.181218	0.05194	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46063	0.88;0.88	6.03	1.1	0.20463	.	0.717381	0.14006	N	0.347782	T	0.00039	0.0001	L	0.58810	1.83	0.80722	P	0.0	B;B	0.18013	0.025;0.021	B;B	0.12837	0.003;0.008	T	0.14839	-1.0458	8	.	.	.	.	1.1148	0.01712	0.1961:0.2391:0.3413:0.2235	.	399;386	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	T	399;386	ENSP00000443432:A399T;ENSP00000426447:A386T	.	A	+	1	0	IDO2	39992210	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.312000	0.08113	-0.080000	0.12685	0.655000	0.94253	GCA	G|0.929;A|0.071	0.071	strong		0.542	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		A	39873053	G	A	39873053	3	1	22	1	0	0	0	0	1	0	0	0	7502	1087	38	1	1237	1	IDO2	8	39873053	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1918	39873053	106490969	4775	9883										
GOLGA7	51125	hgsc.bcm.edu	37	chr8	41355096	41355096	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgcagaagcagagaagctCggcggccagtcatatctcga	12	10	2	2	rs17656952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41355096C>T	ENST00000357743.4	+	2	381	c.180C>T	c.(178-180)ctC>ctT	p.L60L	GOLGA7_ENST00000405786.2_Silent_p.L60L|GOLGA7_ENST00000518270.1_Silent_p.L60L|GOLGA7_ENST00000520817.1_Silent_p.L60L	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	60					Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CAGAGAAGCTCGGCGGCCAGT	0.368													C|||	465	0.0928514	0.1165	0.1297	5008	,	,		19845	0.0		0.1471	False		,,,				2504	0.0746				p.L60L		Atlas-SNP	.											.	GOLGA7	10	.	0			c.C180T						PASS	.	C	,,	628,3778	272.5+/-270.8	46,536,1621	152	160	157		180,180,180	-2.6	1	8	dbSNP_123	157	1260,7340	253.0+/-278.9	81,1098,3121	no	coding-synonymous,coding-synonymous,coding-synonymous	GOLGA7	NM_001002296.1,NM_001174124.1,NM_016099.2	,,	127,1634,4742	TT,TC,CC		14.6512,14.2533,14.5164	,,	60/138,60/135,60/138	41355096	1888,11118	2203	4300	6503	SO:0001819	synonymous_variant	51125	exon2			GAAGCTCGGCGGC	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"golgi autoantigen, golgin subfamily a, 7"			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.180C>T	8.37:g.41355096C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	22	0.34375	NM_001002296	D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Silent	SNP	ENST00000357743.4	37	CCDS34887.1																																																																																			C|0.876;T|0.124	0.124	strong		0.368	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1	NM_016099		T	41355096	C	T	41355096	2	4	22	1	0	0	0	0	0	0	0	1	6561	871	31	1		1	GOLGA7	8	41355096	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1482043	41355096	105008926	4776	9884										
ANK1	286	hgsc.bcm.edu	37	chr8	41522407	41522407	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctctcccccagctccttGtccagctcctggtggatgtg	10	16	1	0	rs112350393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41522407G>C	ENST00000347528.4	-	40	5478				RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.D45E|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.D45E|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.D45E|ANK1_ENST00000457297.1_Missense_Mutation_p.D45E|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCTCCTTGTCCAGCTCCT	0.612													G|||	147	0.029353	0.1104	0.0014	5008	,	,		18468	0.0		0.0	False		,,,				2504	0.0				p.D45E		Atlas-SNP	.											.	ANK1	497	.	0			c.C135G						PASS	.	G	,GLU/ASP,,,,,GLU/ASP,GLU/ASP	405,4001	200.8+/-224.0	31,343,1829	80	58	65		,135,,,,,135,135	4.6	1	8	dbSNP_132	65	4,8596	3.0+/-9.4	0,4,4296	yes	intron,missense,intron,intron,intron,intron,missense,missense	ANK1	NM_000037.3,NM_001142445.1,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2,NM_020478.4,NM_020480.4	,45,,,,,45,45	31,347,6125	CC,CG,GG		0.0465,9.192,3.1447	,,,,,,,	,45/157,,,,,45/156,45/110	41522407	409,12597	2203	4300	6503	SO:0001627	intron_variant	286	exon1			CTCCTTGTCCAGC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5395-1147C>G	8.37:g.41522407G>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	63	28	0.444444	NM_020478	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	36	0.016483516483516484	36	0.07317073170731707	0	0.0	0	0.0	0	0.0	G	24.8	4.569350	0.86439	0.09192	4.65E-4	ENSG00000029534	ENST00000457297;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000348036;ENST00000335651	D;D;D	0.87334	-1.81;-2.24;-2.19	5.51	4.63	0.57726	.	.	.	.	.	T	0.41534	0.1163	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.994;0.996;0.996	T	0.72087	-0.4396	9	0.72032	D	0.01	.	12.8445	0.57821	0.078:0.0:0.9219:0.0	.	45;45;45;45	Q6PK32;A0PJN8;Q53ER1;E5RFL7	.;.;.;.	E	45	ENSP00000428750:D45E;ENSP00000430368:D45E;ENSP00000319123:D45E	ENSP00000319123:D45E	D	-	3	2	ANK1	41641564	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	4.545000	0.60698	2.585000	0.87301	0.563000	0.77884	GAC	G|0.969;C|0.031	0.031	strong		0.612	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		C	41522407	G	C	41522407	1	2	22	0	1	0	0	0	0	0	0	0	620	1368	48	4		4	ANK1	8	41522407	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	167311	41522407	104841615	4777	9885										
ANK1	286	hgsc.bcm.edu	37	chr8	41525914	41525914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgtgtgctcacttacagaCaccaggaccttctcgtactc	7	15	2	1	rs750625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41525914C>T	ENST00000347528.4	-	39	5348	c.5265G>A	c.(5263-5265)gtG>gtA	p.V1755V	ANK1_ENST00000379758.2_Silent_p.V1755V|ANK1_ENST00000265709.8_Silent_p.V1796V|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Silent_p.V1755V|ANK1_ENST00000289734.7_Silent_p.V1755V|ANK1_ENST00000396945.1_Silent_p.V1755V|ANK1_ENST00000396942.1_Silent_p.V1755V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1755	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTTACAGACACCAGGACCT	0.592													C|||	975	0.194688	0.1936	0.2147	5008	,	,		20886	0.1409		0.2406	False		,,,				2504	0.1902				p.V1796V		Atlas-SNP	.											.	ANK1	497	.	0			c.G5388A						PASS	.	C	,,,,	900,3506	347.2+/-309.4	91,718,1394	148	113	125		5265,5388,5265,5265,4779	2.3	0	8	dbSNP_86	125	2107,6493	364.6+/-333.6	269,1569,2462	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	360,2287,3856	TT,TC,CC		24.5,20.4267,23.1201	,,,,	1755/1881,1796/1898,1755/1857,1755/1882,1593/1720	41525914	3007,9999	2203	4300	6503	SO:0001819	synonymous_variant	286	exon40			TACAGACACCAGG	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5265G>A	8.37:g.41525914C>T		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	219	107	0.488584	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	439	0.20100732600732601	102	0.2073170731707317	94	0.2596685082872928	81	0.14160839160839161	162	0.21372031662269128	C	0.035	-1.311843	0.01342	0.204267	0.245	ENSG00000029534	ENST00000520299	T	0.67171	-0.25	4.17	2.34	0.29019	.	1.106060	0.06943	N	0.813257	T	0.00012	0.0000	.	.	.	0.53688	P	2.999999999997449E-5	.	.	.	.	.	.	T	0.05435	-1.0885	6	0.42905	T	0.14	.	7.2806	0.26310	0.0:0.7369:0.1698:0.0933	rs750625;rs17659714;rs750625	.	.	.	I	915	ENSP00000430174:V915I	ENSP00000430174:V915I	V	-	1	0	ANK1	41645071	0.693000	0.27728	0.007000	0.13788	0.026000	0.11368	1.235000	0.32671	0.532000	0.28657	0.313000	0.20887	GTC	C|0.778;A|0.001	.	strong		0.592	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41525914	C	T	41525914	2	4	22	1	0	0	0	0	0	0	0	1	620	465	17	2		2	ANK1	8	41525914	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3507	41525914	104838108	4778	9886										
ANK1	286	hgsc.bcm.edu	37	chr8	41547748	41547748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggtgccagctcaccttGgcgcaggggggcatggtgat	18	10	1	1	rs7816734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41547748G>A	ENST00000347528.4	-	33	4184	c.4101C>T	c.(4099-4101)gcC>gcT	p.A1367A	ANK1_ENST00000379758.2_Silent_p.A1367A|ANK1_ENST00000265709.8_Silent_p.A1408A|ANK1_ENST00000352337.4_Silent_p.A1367A|ANK1_ENST00000289734.7_Silent_p.A1367A|ANK1_ENST00000396945.1_Silent_p.A1367A|ANK1_ENST00000396942.1_Silent_p.A1367A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1367					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCTCACCTTGGCGCAGGGGG	0.627													G|||	938	0.1873	0.5439	0.0576	5008	,	,		17004	0.0764		0.0606	False		,,,				2504	0.0419				p.A1408A		Atlas-SNP	.											.	ANK1	497	.	0			c.C4224T						PASS	.	G	,,,,	2010,2396	562.1+/-380.9	470,1070,663	93	75	81		4101,4224,4101,4101,4101	2.2	1	8	dbSNP_116	81	495,8105	142.3+/-198.5	12,471,3817	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	482,1541,4480	AA,AG,GG		5.7558,45.6196,19.2603	,,,,	1367/1881,1408/1898,1367/1857,1367/1882,1367/1720	41547748	2505,10501	2203	4300	6503	SO:0001819	synonymous_variant	286	exon34			CACCTTGGCGCAG	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4101C>T	8.37:g.41547748G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	91	90	0.989011	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	372	0.17032967032967034	266	0.540650406504065	19	0.052486187845303865	43	0.07517482517482517	44	0.05804749340369393	G	9.953	1.220573	0.22457	0.456196	0.057558	ENSG00000029534	ENST00000520299	.	.	.	5.08	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8844	0.13696	0.0756:0.2822:0.4961:0.146	rs7816734;rs7816734	.	.	.	X	689	.	.	Q	-	1	0	ANK1	41666905	1.000000	0.71417	0.992000	0.48379	0.858000	0.48976	2.444000	0.44890	0.261000	0.21753	0.563000	0.77884	CAA	G|0.811;A|0.189	0.189	strong		0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41547748	G	A	41547748	2	1	22	1	0	0	0	0	0	0	0	1	620	1335	47	2		2	ANK1	8	41547748	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21834	41547748	104816274	4779	9887										
ANK1	286	hgsc.bcm.edu	37	chr8	41548003	41548003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccggcacctttacaggcaTggccagacggttctcccgaa	11	14	1	1	rs10093583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41548003T>C	ENST00000347528.4	-	32	4056	c.3973A>G	c.(3973-3975)Atg>Gtg	p.M1325V	ANK1_ENST00000352337.4_Missense_Mutation_p.M1325V|ANK1_ENST00000396942.1_Missense_Mutation_p.M1325V|ANK1_ENST00000265709.8_Missense_Mutation_p.M1366V|ANK1_ENST00000289734.7_Missense_Mutation_p.M1325V|ANK1_ENST00000379758.2_Missense_Mutation_p.M1325V|ANK1_ENST00000396945.1_Missense_Mutation_p.M1325V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1325	UPA domain. {ECO:0000250}.		M -> V (in dbSNP:rs10093583).		axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTACAGGCATGGCCAGACGG	0.572													T|||	202	0.0403355	0.1377	0.0187	5008	,	,		18237	0.0		0.007	False		,,,				2504	0.0				p.M1366V		Atlas-SNP	.											.	ANK1	497	.	0			c.A4096G						PASS	.	T	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	518,3888	238.0+/-249.6	28,462,1713	56	60	59		3973,4096,3973,3973,3973	5.1	1	8	dbSNP_119	59	55,8545	35.3+/-89.8	1,53,4246	yes	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	21,21,21,21,21	29,515,5959	CC,CT,TT		0.6395,11.7567,4.4057	benign,benign,benign,benign,benign	1325/1881,1366/1898,1325/1857,1325/1882,1325/1720	41548003	573,12433	2203	4300	6503	SO:0001583	missense	286	exon33			CAGGCATGGCCAG	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3973A>G	8.37:g.41548003T>C	ENSP00000339620:p.Met1325Val	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	78|78	0.03571428571428571|0.03571428571428571	67|67	0.13617886178861788|0.13617886178861788	7|7	0.019337016574585635|0.019337016574585635	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	T|T	10.60|10.60	1.395238|1.395238	0.25205|0.25205	0.117567|0.117567	0.006395|0.006395	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.184594	.|0.47093	.|D	.|0.000258	T|T	0.00073|0.00073	0.0002|0.0002	N|N	0.01352|0.01352	-0.895|-0.895	0.46631|0.46631	P|P	8.639999999999759E-4|8.639999999999759E-4	.|B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.0;0.001	.|B;B;B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.0;0.001;0.0	T|T	0.08554|0.08554	-1.0716|-1.0716	4|9	.|0.52906	.|T	.|0.07	.|.	10.3554|10.3554	0.43960|0.43960	0.0:0.0:0.1645:0.8355|0.0:0.0:0.1645:0.8355	rs10093583;rs52831655;rs10093583|rs10093583;rs52831655;rs10093583	.|1366;1325;1325;1325;1325;641	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	R|V	646|1325;1325;1325;1325;1325;1325;1366;1325	.|ENSP00000339620:M1325V;ENSP00000289734:M1325V;ENSP00000369082:M1325V;ENSP00000380149:M1325V;ENSP00000380147:M1325V;ENSP00000309131:M1325V;ENSP00000265709:M1366V	.|ENSP00000265709:M1366V	H|M	-|-	2|1	0|0	ANK1|ANK1	41667160|41667160	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.822000|0.822000	0.46500|0.46500	2.390000|2.390000	0.44416|0.44416	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	CAT|ATG	T|0.955;C|0.045	0.045	strong		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		C	41548003	T	C	41548003	3	2	22	1	0	0	0	0	1	0	0	0	620	1464	51	2	2042	2	ANK1	8	41548003	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	255	41548003	104816019	4780	9888										
ANK1	286	hgsc.bcm.edu	37	chr8	41552840	41552840	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaagtgcgggatctccacGattacagggctgaggcaagg	15	9	1	1	rs34969689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:41552840G>A	ENST00000347528.4	-	27	3053	c.2970C>T	c.(2968-2970)atC>atT	p.I990I	ANK1_ENST00000379758.2_Silent_p.I990I|ANK1_ENST00000265709.8_Silent_p.I1031I|ANK1_ENST00000352337.4_Silent_p.I990I|ANK1_ENST00000289734.7_Silent_p.I990I|ANK1_ENST00000396945.1_Silent_p.I990I|ANK1_ENST00000396942.1_Silent_p.I990I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	990	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGATCTCCACGATTACAGGGC	0.642													G|||	71	0.0141773	0.0522	0.0014	5008	,	,		20368	0.0		0.0	False		,,,				2504	0.001				p.I1031I		Atlas-SNP	.											.	ANK1	497	.	0			c.C3093T						PASS	.	G	,,,,	167,4239	109.9+/-148.2	2,163,2038	94	79	84		2970,3093,2970,2970,2970	-4	1	8	dbSNP_126	84	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	2,166,6335	AA,AG,GG		0.0349,3.7903,1.3071	,,,,	990/1881,1031/1898,990/1857,990/1882,990/1720	41552840	170,12836	2203	4300	6503	SO:0001819	synonymous_variant	286	exon28			CTCCACGATTACA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2970C>T	8.37:g.41552840G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	180	85	0.472222	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	22	0.010073260073260074	21	0.042682926829268296	1	0.0027624309392265192	0	0.0	0	0.0	G	8.916	0.959980	0.18507	0.037903	3.49E-4	ENSG00000029534	ENST00000520299	.	.	.	4.99	-4.02	0.04034	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43734	-0.9373	4	.	.	.	.	9.6086	0.39648	0.649:0.1048:0.2461:0.0	rs34969689	.	.	.	C	312	.	.	R	-	1	0	ANK1	41671997	0.000000	0.05858	0.956000	0.39512	0.803000	0.45373	-2.206000	0.01231	-0.779000	0.04560	-0.251000	0.11542	CGT	G|0.987;A|0.013	0.013	strong		0.642	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41552840	G	A	41552840	2	1	22	1	0	0	0	0	0	0	0	1	620	1048	37	1		1	ANK1	8	41552840	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4837	41552840	104811182	4781	9889										
DKK4	27121	hgsc.bcm.edu	37	chr8	42231786	42231786	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacctgtccctccaaaagGactggcttacaaattttcgt	7	12	0	1	rs2073664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:42231786G>A	ENST00000220812.2	-	4	693	c.507C>T	c.(505-507)gtC>gtT	p.V169V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	169	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CCTCCAAAAGGACTGGCTTAC	0.493													G|||	1525	0.304513	0.7224	0.1009	5008	,	,		17908	0.1657		0.0875	False		,,,				2504	0.2505				p.V169V		Atlas-SNP	.											.	DKK4	28	.	0			c.C507T						PASS	.	G		2570,1836	636.4+/-396.6	745,1080,378	88	87	87		507	2.2	0.9	8	dbSNP_96	87	630,7970	161.7+/-214.6	24,582,3694	no	coding-synonymous	DKK4	NM_014420.2		769,1662,4072	AA,AG,GG		7.3256,41.6704,24.604		169/225	42231786	3200,9806	2203	4300	6503	SO:0001819	synonymous_variant	27121	exon4			CAAAAGGACTGGC	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.507C>T	8.37:g.42231786G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	170	168	0.988235	NM_014420	Q3KNX0|Q9Y4C3	Silent	SNP	ENST00000220812.2	37	CCDS6130.1																																																																																			G|0.739;A|0.261	0.261	strong		0.493	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			A	42231786	G	A	42231786	2	1	22	1	0	0	0	0	0	0	0	1	4547	1161	41	2		2	DKK4	8	42231786	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	678946	42231786	104132236	4782	9890										
KIAA0146	23514	hgsc.bcm.edu	37	chr8	48511729	48511729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggtcagcagggggccagCtcaggacacacagacccagc	15	13	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:48511729C>T	ENST00000297423.4	+	10	1899	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	SPIDR_ENST00000518074.1_Silent_p.S445S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S435S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	505					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AGGGGGCCAGCTCAGGACACA	0.592																																					p.S505S		Atlas-SNP	.											.	KIAA0146	64	.	0			c.C1515T						PASS	.						29	36	33					8																	48511729		2051	4183	6234	SO:0001819	synonymous_variant	23514	exon10			GGCCAGCTCAGGA	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1515C>T	8.37:g.48511729C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	101	41	0.405941	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	3.747	-0.052466	0.07362	.	.	ENSG00000164808	ENST00000519401	.	.	.	4.68	0.555	0.17247	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	3.972	0.09457	0.1661:0.488:0.0:0.3459	.	.	.	.	V	187	.	.	A	+	2	0	KIAA0146	48674282	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.473000	0.06615	0.134000	0.18681	0.585000	0.79938	GCT	.	.	none		0.592	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		T	48511729	C	T	48511729	2	4	22	1	0	0	0	0	0	0	0	1	8157	796	28	2		2	KIAA0146	8	48511729	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6279943	48511729	97852293	4783	9891										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52320786	52320786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcagccgaatccacggccGcagaataagccgcggagaag	14	12	0	2	rs74731075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:52320786G>A	ENST00000356297.4	-	17	3498	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A1133V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1133					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)				ATCCACGGCCGCAGAATAAGC	0.547													G|||	131	0.0261581	0.0946	0.0072	5008	,	,		14026	0.0		0.001	False		,,,				2504	0.0				p.A1133V		Atlas-SNP	.											.	PXDNL	414	.	0			c.C3398T						PASS	.	G	VAL/ALA	264,3518		11,242,1638	73	79	77		3398	1.3	0	8	dbSNP_131	77	5,8231		0,5,4113	yes	missense	PXDNL	NM_144651.4	64	11,247,5751	AA,AG,GG		0.0607,6.9804,2.2383	benign	1133/1464	52320786	269,11749	1891	4118	6009	SO:0001583	missense	137902	exon17			ACGGCCGCAGAAT		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.3398C>T	8.37:g.52320786G>A	ENSP00000348645:p.Ala1133Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	81	40	0.493827	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	51|51	0.023351648351648352|0.023351648351648352	48|48	0.0975609756097561|0.0975609756097561	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	G|G	0.006|0.006	-2.030686|-2.030686	0.00410|0.00410	0.069804|0.069804	6.07E-4|6.07E-4	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.69040|.	-0.37;-0.37|.	3.82|3.82	1.31|1.31	0.21738|0.21738	.|.	0.495534|.	0.16394|.	N|.	0.216355|.	T|T	0.00109|0.00109	0.0003|0.0003	N|N	0.00055|0.00055	-2.37|-2.37	0.25903|0.25903	N|N	0.983334|0.983334	B|.	0.11235|.	0.004|.	B|.	0.01281|.	0.0|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|5	0.02654|.	T|.	1|.	.|.	3.9194|3.9194	0.09237|0.09237	0.6521:0.2101:0.1378:0.0|0.6521:0.2101:0.1378:0.0	.|.	1133|.	A1KZ92|.	PXDNL_HUMAN|.	V|W	1133|252	ENSP00000348645:A1133V;ENSP00000444865:A1133V|.	ENSP00000348645:A1133V|.	A|R	-|-	2|1	0|2	PXDNL|PXDNL	52483339|52483339	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	6.058000|6.058000	0.71126|0.71126	-0.039000|-0.039000	0.13602|0.13602	-0.175000|-0.175000	0.13238|0.13238	GCG|CGG	G|0.973;A|0.027	0.027	strong		0.547	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52320786	G	A	52320786	3	1	22	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1021	1	PXDNL	8	52320786	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3809057	52320786	94043236	4784	9892										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52321293	52321293	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggcggccagagccagaTgctcgttggcccggtggtcc	16	13	0	2	rs562911693		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:52321293T>A	ENST00000356297.4	-	17	2991	c.2891A>T	c.(2890-2892)cAt>cTt	p.H964L	PXDNL_ENST00000543296.1_Missense_Mutation_p.H964L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	964					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)				CAGAGCCAGATGCTCGTTGGC	0.647																																					p.H964L		Atlas-SNP	.											.	PXDNL	414	.	0			c.A2891T						PASS	.						13	15	14					8																	52321293		1980	4147	6127	SO:0001583	missense	137902	exon17			GCCAGATGCTCGT		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.2891A>T	8.37:g.52321293T>A	ENSP00000348645:p.His964Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	103	54	0.524272	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.567|7.567	0.665851|0.665851	0.14710|0.14710	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.71698|.	-0.59;-0.59|.	3.73|3.73	1.18|1.18	0.20946|0.20946	.|.	0.164545|.	0.29508|.	N|.	0.011960|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.17082|0.17082	0.46|0.46	0.26667|0.26667	N|N	0.971805|0.971805	B|.	0.11235|.	0.004|.	B|.	0.17979|.	0.02|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.59425|.	D|.	0.04|.	.|.	3.9824|3.9824	0.09501|0.09501	0.1835:0.1097:0.0:0.7068|0.1835:0.1097:0.0:0.7068	.|.	964|.	A1KZ92|.	PXDNL_HUMAN|.	L|F	964|83	ENSP00000348645:H964L;ENSP00000444865:H964L|.	ENSP00000348645:H964L|.	H|I	-|-	2|1	0|0	PXDNL|PXDNL	52483846|52483846	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	5.173000|5.173000	0.65010|0.65010	-0.052000|-0.052000	0.13311|0.13311	-0.371000|-0.371000	0.07208|0.07208	CAT|ATC	.	.	none		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52321293	T	A	52321293	3	1	22	1	0	0	0	0	1	0	0	0	12848	1464	51	5	1528	5	PXDNL	8	52321293	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	507	52321293	94042729	4785	9893										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52321686	52321686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcgttggtgcagacggagCtgcacggccgcccatccgag	16	13	0	1	rs11985241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:52321686C>T	ENST00000356297.4	-	17	2598	c.2498G>A	c.(2497-2499)aGc>aAc	p.S833N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S833N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	833				S -> N (in Ref. 4; BAD18663). {ECO:0000305}.	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)				GCAGACGGAGCTGCACGGCCG	0.672													C|||	771	0.153954	0.1725	0.0778	5008	,	,		10650	0.2768		0.0905	False		,,,				2504	0.1217				p.S833N		Atlas-SNP	.											.	PXDNL	414	.	0			c.G2498A						PASS	.	C	ASN/SER	682,3532		50,582,1475	17	21	20		2498	2.6	0	8	dbSNP_120	20	725,7687		33,659,3514	yes	missense	PXDNL	NM_144651.4	46	83,1241,4989	TT,TC,CC		8.6186,16.1841,11.1437	benign	833/1464	52321686	1407,11219	2107	4206	6313	SO:0001583	missense	137902	exon17			ACGGAGCTGCACG		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.2498G>A	8.37:g.52321686C>T	ENSP00000348645:p.Ser833Asn	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	67	47	0.701493	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	334	0.15293040293040294	85	0.17276422764227642	30	0.08287292817679558	152	0.26573426573426573	67	0.08839050131926121	C	4.452	0.083708	0.08533	0.161841	0.086186	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.73047	-0.71;-0.71	3.56	2.63	0.31362	.	0.000000	0.64402	D	0.000019	T	0.00012	0.0000	L	0.33753	1.03	0.39622	P	0.029958999999999958	B	0.25105	0.118	B	0.23716	0.048	T	0.06935	-1.0799	9	0.40728	T	0.16	.	9.8527	0.41066	0.2068:0.7932:0.0:0.0	rs11985241	833	A1KZ92	PXDNL_HUMAN	N	833	ENSP00000348645:S833N;ENSP00000444865:S833N	ENSP00000348645:S833N	S	-	2	0	PXDNL	52484239	1.000000	0.71417	0.017000	0.16124	0.034000	0.12701	5.229000	0.65316	0.553000	0.29044	0.650000	0.86243	AGC	C|0.853;T|0.147	0.147	strong		0.672	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52321686	C	T	52321686	3	4	22	1	0	0	0	0	1	0	0	0	12848	797	28	2	1921	2	PXDNL	8	52321686	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	393	52321686	94042336	4786	9894										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52325767	52325767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaactctctgtacagcaTcaagaatggaagattcaaca	7	9	4	2	rs16916207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:52325767T>G	ENST00000356297.4	-	15	1947	c.1847A>C	c.(1846-1848)gAt>gCt	p.D616A	PXDNL_ENST00000543296.1_Missense_Mutation_p.D616A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	616			D -> A (in dbSNP:rs16916207).		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)				CTGTACAGCATCAAGAATGGA	0.343													T|||	795	0.158746	0.1921	0.0793	5008	,	,		20248	0.2768		0.0865	False		,,,				2504	0.1227				p.D616A		Atlas-SNP	.											.	PXDNL	414	.	0			c.A1847C						PASS	.	T	ALA/ASP	683,3073		64,555,1259	140	137	138		1847	3.6	0	8	dbSNP_123	138	720,7538		31,658,3440	yes	missense	PXDNL	NM_144651.4	126	95,1213,4699	GG,GT,TT		8.7188,18.1842,11.678	possibly-damaging	616/1464	52325767	1403,10611	1878	4129	6007	SO:0001583	missense	137902	exon15			ACAGCATCAAGAA		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.1847A>C	8.37:g.52325767T>G	ENSP00000348645:p.Asp616Ala	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	341	0.15613553113553114	94	0.1910569105691057	29	0.08011049723756906	152	0.26573426573426573	66	0.0870712401055409	T	11.16	1.557645	0.27827	0.181842	0.087188	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.64085	-0.06;-0.08	4.78	3.61	0.41365	.	.	.	.	.	T	0.00012	0.0000	L	0.44542	1.39	0.43321	P	0.004654999999999965	B	0.25563	0.129	B	0.23419	0.046	T	0.06320	-1.0833	8	0.72032	D	0.01	.	8.6127	0.33813	0.0:0.0935:0.0:0.9064	rs16916207;rs57038753;rs16916207	616	A1KZ92	PXDNL_HUMAN	A	616	ENSP00000348645:D616A;ENSP00000444865:D616A	ENSP00000348645:D616A	D	-	2	0	PXDNL	52488320	0.988000	0.35896	0.017000	0.16124	0.489000	0.33432	4.320000	0.59203	0.674000	0.31244	0.533000	0.62120	GAT	T|0.846;G|0.154	0.154	strong		0.343	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52325767	T	G	52325767	3	3	22	1	0	0	0	0	1	0	0	0	12848	1435	50	5	2580	5	PXDNL	8	52325767	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4081	52325767	94038255	4787	9895										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	7	7	3	1	rs200377849		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTTATGAAATTTCTAAGTG	0.388																																					p.N257K		Atlas-SNP	.											PCMTD1,trunk,malignant_melanoma,0,1	PCMTD1	73	1	1	Substitution - Missense(1)	skin(1)	c.T771G						scavenged	.						78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294	exon6			TATGAAATTTCTA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys	Somatic	290	2	0.00689655		WXS	Illumina HiSeq	Phase_I	307	8	0.0260586	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT	.	.	weak		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	22	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	407447	52733214	93630808	4788	9896										
OPRK1	4986	hgsc.bcm.edu	37	chr8	54142157	54142157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagcagacgacgaagacTgccaccaccaccaggaccag	10	16	0	2	rs702764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:54142157T>C	ENST00000265572.3	-	4	1140	c.843A>G	c.(841-843)gcA>gcG	p.A281A	OPRK1_ENST00000524278.1_Silent_p.A192A|OPRK1_ENST00000520287.1_Silent_p.A281A|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGACGAAGACTGCCACCACCA	0.567													C|||	1225	0.244609	0.5416	0.2709	5008	,	,		19584	0.0764		0.1402	False		,,,				2504	0.1053				p.A281A		Atlas-SNP	.											.	OPRK1	90	.	0			c.A843G						PASS	.	C		2062,2344	608.8+/-391.2	485,1092,626	73	77	76		843	-11.6	0	8	dbSNP_86	76	1219,7381	762.7+/-407.6	101,1017,3182	no	coding-synonymous	OPRK1	NM_000912.3		586,2109,3808	CC,CT,TT		14.1744,46.7998,25.2268		281/381	54142157	3281,9725	2203	4300	6503	SO:0001819	synonymous_variant	4986	exon4			GAAGACTGCCACC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.843A>G	8.37:g.54142157T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	178	177	0.994382	NM_000912	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			T|0.752;C|0.248	0.248	strong		0.567	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			C	54142157	T	C	54142157	2	2	22	1	0	0	0	0	0	0	0	1	10885	1567	55	3		3	OPRK1	8	54142157	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1408943	54142157	92221865	4789	9897										
OPRK1	4986	hgsc.bcm.edu	37	chr8	54147470	54147470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcaatgtagcggtccacGctcatcatggtcaaggtgaa	12	10	3	1	rs7815824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:54147470G>A	ENST00000265572.3	-	3	756	c.459C>T	c.(457-459)agC>agT	p.S153S	OPRK1_ENST00000524278.1_Silent_p.S64S|OPRK1_ENST00000520287.1_Silent_p.S153S|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	153					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGCGGTCCACGCTCATCATGG	0.488													G|||	318	0.0634984	0.1815	0.0389	5008	,	,		21237	0.0188		0.0298	False		,,,				2504	0.002				p.S153S		Atlas-SNP	.											.	OPRK1	90	.	0			c.C459T						PASS	.	G		691,3715	290.4+/-280.9	50,591,1562	131	105	114		459	-6.4	0.8	8	dbSNP_116	114	295,8305	108.0+/-168.7	5,285,4010	no	coding-synonymous	OPRK1	NM_000912.3		55,876,5572	AA,AG,GG		3.4302,15.6832,7.5811		153/381	54147470	986,12020	2203	4300	6503	SO:0001819	synonymous_variant	4986	exon3			GTCCACGCTCATC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.459C>T	8.37:g.54147470G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	118	55	0.466102	NM_000912	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			G|0.927;A|0.073	0.073	strong		0.488	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54147470	G	A	54147470	2	1	22	1	0	0	0	0	0	0	0	1	10885	1078	38	1		1	OPRK1	8	54147470	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5313	54147470	92216552	4790	9898										
LYPLA1	10434	hgsc.bcm.edu	37	chr8	54967638	54967638	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgagaaaaccctcccaaAataattctgttagaaggaat	6	9	1	2	rs76859468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:54967638A>C	ENST00000316963.3	-	6	535	c.342T>G	c.(340-342)atT>atG	p.I114M	LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.I98M|LYPLA1_ENST00000522007.1_Intron	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	114					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			ACCCTCCCAAAATAATTCTGT	0.328													A|||	56	0.0111821	0.0401	0.0043	5008	,	,		16168	0.0		0.0	False		,,,				2504	0.0				p.I114M		Atlas-SNP	.											.	LYPLA1	15	.	0			c.T342G						PASS	.	A	MET/ILE	211,4195	127.4+/-164.3	6,199,1998	60	58	59		342	5.2	1	8	dbSNP_131	59	1,8591	1.2+/-3.3	0,1,4295	yes	missense	LYPLA1	NM_006330.2	10	6,200,6293	CC,CA,AA		0.0116,4.7889,1.631	benign	114/231	54967638	212,12786	2203	4296	6499	SO:0001583	missense	10434	exon6			TCCCAAAATAATT	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.342T>G	8.37:g.54967638A>C	ENSP00000320043:p.Ile114Met	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	223	108	0.484305	NM_006330	O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	CCDS6157.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	A	12.13	1.846250	0.32606	0.047889	1.16E-4	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546;ENST00000521352;ENST00000519926;ENST00000521898	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.23	5.23	0.72850	Phospholipase/carboxylesterase/thioesterase (1);	0.223460	0.46145	D	0.000313	T	0.05547	0.0146	L	0.45744	1.44	0.80722	D	1	B;B;B	0.33549	0.417;0.392;0.073	B;B;B	0.41666	0.363;0.259;0.105	T	0.05649	-1.0872	10	0.51188	T	0.08	-5.5049	5.7137	0.17948	0.7698:0.0:0.0798:0.1504	.	114;98;114	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	M	114;114;98;23;98;50;114;92	ENSP00000320043:I114M;ENSP00000344477:I98M;ENSP00000428729:I98M;ENSP00000428306:I50M;ENSP00000430791:I92M	ENSP00000320043:I114M	I	-	3	3	LYPLA1	55130191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.404000	0.34623	2.103000	0.63969	0.528000	0.53228	ATT	A|0.983;C|0.017	0.017	strong		0.328	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			C	54967638	A	C	54967638	3	2	22	1	0	0	0	0	1	0	0	0	9116	10	1	5	366	5	LYPLA1	8	54967638	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	820168	54967638	91396384	4791	9899										
MRPL15	29088	hgsc.bcm.edu	37	chr8	55047893	55047893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggccctggacctactccGgggcctgccgcgtgtgagcc	15	17	0	1	rs200980911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:55047893G>A	ENST00000260102.4	+	1	124	c.50G>A	c.(49-51)cGg>cAg	p.R17Q		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	17					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GACCTACTCCGGGGCCTGCCG	0.677													g|||	8	0.00159744	0.0045	0.0029	5008	,	,		12630	0.0		0.0	False		,,,				2504	0.0				p.R17Q		Atlas-SNP	.											.	MRPL15	26	.	0			c.G50A						PASS	.	G	GLN/ARG	20,4078		0,20,2029	11	13	12		50	5.1	0.5	8		12	0,8010		0,0,4005	yes	missense	MRPL15	NM_014175.3	43	0,20,6034	AA,AG,GG		0.0,0.488,0.1652	benign	17/297	55047893	20,12088	2049	4005	6054	SO:0001583	missense	29088	exon1			TACTCCGGGGCCT	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.50G>A	8.37:g.55047893G>A	ENSP00000260102:p.Arg17Gln	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	222	106	0.477477	NM_014175	Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	CCDS6158.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	19.81	3.897077	0.72639	0.00488	0.0	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.07	5.07	0.68467	.	0.111607	0.64402	D	0.000010	T	0.68714	0.3031	L	0.52759	1.655	0.45648	D	0.998575	D	0.69078	0.997	D	0.70227	0.968	T	0.73827	-0.3860	9	0.54805	T	0.06	-19.3451	18.8755	0.92332	0.0:0.0:1.0:0.0	.	17	Q9P015	RM15_HUMAN	Q	17	.	ENSP00000260102:R17Q	R	+	2	0	MRPL15	55210446	0.990000	0.36364	0.459000	0.27081	0.769000	0.43574	5.342000	0.65970	2.533000	0.85409	0.650000	0.86243	CGG	G|0.997;A|0.003	0.003	strong		0.677	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		A	55047893	G	A	55047893	3	1	22	1	0	0	0	0	1	0	0	0	9780	1116	39	1	52	1	MRPL15	8	55047893	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80255	55047893	91316129	4792	9900										
RP1	6101	hgsc.bcm.edu	37	chr8	55534093	55534093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctacagcacctgacagaGgtcatgcagcgccctgtggt	11	12	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:55534093G>T	ENST00000220676.1	+	2	715	c.567G>T	c.(565-567)gaG>gaT	p.E189D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	189	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCTGACAGAGGTCATGCAGC	0.587																																					p.E189D	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											RP1,right_lower_lobe,carcinoma,+1,1	RP1	429	1	0			c.G567T						scavenged	.						121	125	124					8																	55534093		2203	4300	6503	SO:0001583	missense	6101	exon2			GACAGAGGTCATG	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.567G>T	8.37:g.55534093G>T	ENSP00000220676:p.Glu189Asp	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	247	3	0.0121457	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590932	0.46214	.	.	ENSG00000104237	ENST00000220676	D	0.93189	-3.18	5.14	-0.985	0.10256	Doublecortin domain (5);	1.196210	0.06179	N	0.679130	D	0.91710	0.7379	L	0.52905	1.665	0.09310	N	1	P	0.47484	0.896	P	0.49192	0.602	T	0.82343	-0.0504	10	0.56958	D	0.05	2.3985	3.2718	0.06884	0.3372:0.1079:0.4457:0.1092	.	189	P56715	RP1_HUMAN	D	189	ENSP00000220676:E189D	ENSP00000220676:E189D	E	+	3	2	RP1	55696646	1.000000	0.71417	0.050000	0.19076	0.304000	0.27724	0.810000	0.27183	-0.032000	0.13758	-0.142000	0.14014	GAG	.	.	none		0.587	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55534093	G	T	55534093	3	4	22	1	0	0	0	0	1	0	0	0	13532	991	35	4	569	4	RP1	8	55534093	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	486200	55534093	90829929	4793	9901										
PENK	5179	hgsc.bcm.edu	37	chr8	57354380	57354380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttccggtttgctattttcTctgagggtgctggtgccatc	11	10	2	1	rs76702938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:57354380T>C	ENST00000314922.3	-	2	331	c.255A>G	c.(253-255)agA>agG	p.R85R	PENK_ENST00000451791.2_Silent_p.R85R|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	85					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TGCTATTTTCTCTGAGGGTGC	0.468													T|||	12	0.00239617	0.0091	0.0	5008	,	,		17675	0.0		0.0	False		,,,				2504	0.0				p.R85R		Atlas-SNP	.											.	PENK	59	.	0			c.A255G						PASS	.	T	,	15,4391	21.2+/-45.6	0,15,2188	98	100	99		255,255	1.5	0	8	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,15,6488	CC,CT,TT		0.0,0.3404,0.1153	,	85/268,85/268	57354380	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	5179	exon4			ATTTTCTCTGAGG		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.255A>G	8.37:g.57354380T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	107	58	0.542056	NM_001135690	B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	CCDS6168.1																																																																																			T|0.999;C|0.001	0.001	strong		0.468	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			C	57354380	T	C	57354380	2	2	22	1	0	0	0	0	0	0	0	1	11727	1548	54	3		3	PENK	8	57354380	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1820287	57354380	89009642	4794	9902										
PENK	5179	hgsc.bcm.edu	37	chr8	57358432	57358432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacgtcgcgcaatcctgGctgcattcggcccgcacggt	12	16	0	0	rs3808633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:57358432G>A	ENST00000314922.3	-	1	157	c.81C>T	c.(79-81)agC>agT	p.S27S	PENK_ENST00000518770.1_Silent_p.S27S|PENK_ENST00000451791.2_Silent_p.S27S|PENK_ENST00000523274.1_5'Flank|PENK_ENST00000523051.1_Silent_p.S27S|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	27					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGCAATCCTGGCTGCATTCGG	0.657													G|||	668	0.133387	0.2587	0.0821	5008	,	,		15225	0.2063		0.0099	False		,,,				2504	0.0521				p.S27S		Atlas-SNP	.											.	PENK	59	.	0			c.C81T						PASS	.	G	,	1075,3331	366.6+/-317.9	144,787,1272	46	46	46		81,81	4.3	1	8	dbSNP_107	46	51,8547	31.7+/-84.0	0,51,4248	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	144,838,5520	AA,AG,GG		0.5932,24.3985,8.6589	,	27/268,27/268	57358432	1126,11878	2203	4299	6502	SO:0001819	synonymous_variant	5179	exon3			ATCCTGGCTGCAT		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.81C>T	8.37:g.57358432G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	185	93	0.502703	NM_001135690	B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	CCDS6168.1																																																																																			G|0.909;A|0.091	0.091	strong		0.657	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			A	57358432	G	A	57358432	2	1	22	1	0	0	0	0	0	0	0	1	11727	1194	42	2		2	PENK	8	57358432	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4052	57358432	89005590	4795	9903										
TOX	9760	hgsc.bcm.edu	37	chr8	59727966	59727966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttcccaaggggctgctgCatggtgagcggctggtgctg	18	9	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:59727966C>T	ENST00000361421.1	-	7	1543	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	441						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGGCTGCTGCATGGTGAGCG	0.577																																					p.M441I	Pancreas(161;610 1969 17913 21374 22725)	Atlas-SNP	.											.	TOX	83	.	0			c.G1323A						PASS	.						69	73	72					8																	59727966		2203	4300	6503	SO:0001583	missense	9760	exon7			CTGCTGCATGGTG		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1323G>A	8.37:g.59727966C>T	ENSP00000354842:p.Met441Ile	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	334	166	0.497006	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447063	0.63178	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12255	2.7	5.98	5.98	0.97165	.	0.196250	0.56097	D	0.000022	T	0.32675	0.0837	L	0.55213	1.73	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.00031	-1.2282	9	.	.	.	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	441	O94900	TOX_HUMAN	I	441;191	ENSP00000354842:M441I	.	M	-	3	0	TOX	59890520	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.711000	0.74675	2.837000	0.97791	0.591000	0.81541	ATG	.	.	none		0.577	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		T	59727966	C	T	59727966	3	4	22	1	0	0	0	0	1	0	0	0	16374	710	25	2	269	2	TOX	8	59727966	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2369534	59727966	86636056	4796	9904										
CA8	767	hgsc.bcm.edu	37	chr8	61178574	61178574	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacttcgtacagttcaaaTtcatgcccttgaggcaatgg	8	11	3	1	rs7464181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:61178574T>C	ENST00000317995.4	-	3	591	c.327A>G	c.(325-327)gaA>gaG	p.E109E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	109					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ACAGTTCAAATTCATGCCCTT	0.398													T|||	2509	0.500998	0.8457	0.3977	5008	,	,		17998	0.2669		0.4235	False		,,,				2504	0.4294				p.E109E		Atlas-SNP	.											.	CA8	31	.	0			c.A327G						PASS	.	T		3347,1059	723.8+/-409.4	1266,815,122	71	68	69		327	-4.1	1	8	dbSNP_116	69	3523,5077	514.1+/-378.3	699,2125,1476	yes	coding-synonymous	CA8	NM_004056.4		1965,2940,1598	CC,CT,TT		40.9651,24.0354,47.1782		109/291	61178574	6870,6136	2203	4300	6503	SO:0001819	synonymous_variant	767	exon3			TTCAAATTCATGC	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.327A>G	8.37:g.61178574T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	84	32	0.380952	NM_004056	A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	CCDS6174.1																																																																																			T|0.488;C|0.512	0.512	strong		0.398	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			C	61178574	T	C	61178574	2	2	22	1	0	0	0	0	0	0	0	1	2523	1490	52	2		2	CA8	8	61178574	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1450608	61178574	85185448	4797	9905										
CHD7	55636	hgsc.bcm.edu	37	chr8	61765560	61765560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatctgccagagtggtgggaGtgtggacggcatgaccgaga	18	7	1	3	rs2068096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:61765560G>A	ENST00000423902.2	+	31	6755	c.6276G>A	c.(6274-6276)gaG>gaA	p.E2092E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2092					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTGGTGGGAGTGTGGACGGC	0.567													G|||	622	0.124201	0.357	0.0749	5008	,	,		19016	0.0149		0.0378	False		,,,				2504	0.046				p.E2092E		Atlas-SNP	.											.	CHD7	534	.	0			c.G6276A						PASS	.	G		1157,3003		160,837,1083	84	97	93		6276	-0.4	0.8	8	dbSNP_96	93	351,8065		12,327,3869	no	coding-synonymous	CHD7	NM_017780.3		172,1164,4952	AA,AG,GG		4.1706,27.8125,11.9911		2092/2998	61765560	1508,11068	2080	4208	6288	SO:0001819	synonymous_variant	55636	exon31			GTGGGAGTGTGGA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6276G>A	8.37:g.61765560G>A		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	261	132	0.505747	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																			G|0.886;A|0.114	0.114	strong		0.567	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61765560	G	A	61765560	2	1	22	1	0	0	0	0	0	0	0	1	3330	1020	36	2		2	CHD7	8	61765560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	586986	61765560	84598462	4798	9906										
GGH	8836	hgsc.bcm.edu	37	chr8	63938764	63938764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcaacagtatctgtggcaGttaataagcactctccacta	7	11	3	0	rs11545078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:63938764G>A	ENST00000260118.6	-	5	854	c.452C>T	c.(451-453)aCt>aTt	p.T151I	RP11-659E9.4_ENST00000521556.1_RNA|GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	151	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.		T -> I (in dbSNP:rs11545078).		glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)	p.T151I(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ATCTGTGGCAGTTAATAAGCA	0.433													G|||	428	0.0854633	0.056	0.0403	5008	,	,		17363	0.0873		0.0924	False		,,,				2504	0.1483				p.T151I		Atlas-SNP	.											GGH,NS,carcinoma,0,1	GGH	32	1	1	Substitution - Missense(1)	stomach(1)	c.C452T	GRCh37	CM042063	GGH	M	rs11545078	PASS	.	G	ILE/THR	265,4141	150.3+/-184.3	3,259,1941	127	112	117		452	5.9	0.9	8	dbSNP_120	117	826,7774	190.3+/-236.8	38,750,3512	yes	missense	GGH	NM_003878.2	89	41,1009,5453	AA,AG,GG		9.6047,6.0145,8.3884	possibly-damaging	151/319	63938764	1091,11915	2203	4300	6503	SO:0001583	missense	8836	exon5			GTGGCAGTTAATA	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.452C>T	8.37:g.63938764G>A	ENSP00000260118:p.Thr151Ile	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	119	58	0.487395	NM_003878		Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	156	0.07142857142857142	25	0.0508130081300813	15	0.04143646408839779	46	0.08041958041958042	70	0.09234828496042216	G	17.79	3.475038	0.63737	0.060145	0.096047	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.44482	0.92	5.93	5.93	0.95920	.	0.135994	0.64402	D	0.000004	T	0.01287	0.0042	L	0.60845	1.875	0.09310	P	0.99999826864	P	0.38395	0.629	B	0.32928	0.155	T	0.03148	-1.1067	9	0.38643	T	0.18	-19.5529	19.1049	0.93290	0.0:0.0:1.0:0.0	rs11545078;rs61629507	151	Q92820	GGH_HUMAN	I	151;112	ENSP00000260118:T151I	ENSP00000260118:T151I	T	-	2	0	GGH	64101318	0.987000	0.35691	0.896000	0.35187	0.027000	0.11550	4.169000	0.58223	2.818000	0.97014	0.591000	0.81541	ACT	G|0.919;A|0.081	0.081	strong		0.433	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			A	63938764	G	A	63938764	3	1	22	1	0	0	0	0	1	0	0	0	6357	1029	36	2	524	2	GGH	8	63938764	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2173204	63938764	82425258	4799	9907										
ARMC1	55156	hgsc.bcm.edu	37	chr8	66517549	66517549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctttcataaccttggtTgatgctattgctgatgccaa	9	8	1	3	rs16932266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:66517549T>C	ENST00000276569.3	-	6	850	c.606A>G	c.(604-606)tcA>tcG	p.S202S	ARMC1_ENST00000458464.2_Silent_p.S100S	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	202					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TAACCTTGGTTGATGCTATTG	0.323													T|||	109	0.0217652	0.0257	0.0288	5008	,	,		18451	0.0248		0.0159	False		,,,				2504	0.0143				p.S202S		Atlas-SNP	.											.	ARMC1	22	.	0			c.A606G						PASS	.	T		105,4301	81.4+/-119.9	2,101,2100	114	110	111		606	-0.1	1	8	dbSNP_123	111	126,8474	65.3+/-127.6	1,124,4175	no	coding-synonymous	ARMC1	NM_018120.4		3,225,6275	CC,CT,TT		1.4651,2.3831,1.7761		202/283	66517549	231,12775	2203	4300	6503	SO:0001819	synonymous_variant	55156	exon6			CTTGGTTGATGCT	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.606A>G	8.37:g.66517549T>C		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	193	103	0.533679	NM_018120	B4E2W7|Q9H018|Q9H820	Silent	SNP	ENST00000276569.3	37	CCDS6181.1																																																																																			T|0.984;C|0.016	0.016	strong		0.323	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		C	66517549	T	C	66517549	2	2	22	1	0	0	0	0	0	0	0	1	949	1799	63	2		2	ARMC1	8	66517549	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2578785	66517549	79846473	4800	9908										
TRIM55	84675	hgsc.bcm.edu	37	chr8	67064654	67064654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaggcggagaaggagaaaAagaaggagaaggagaagtgg	19	1	0	6	rs7843605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67064654A>G	ENST00000315962.4	+	8	1401	c.1028A>G	c.(1027-1029)aAa>aGa	p.K343R	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.K343R|TRIM55_ENST00000276573.7_Missense_Mutation_p.K343R	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	343			K -> R (in dbSNP:rs7843605).		signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.K343R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			gaaggagaaaaagaaggagaa	0.413													G|||	1069	0.213458	0.6664	0.0908	5008	,	,		21464	0.0		0.0915	False		,,,				2504	0.0337				p.K343R		Atlas-SNP	.											TRIM55,NS,carcinoma,0,1	TRIM55	91	1	1	Substitution - Missense(1)	prostate(1)	c.A1028G						PASS	.	G	ARG/LYS,ARG/LYS,ARG/LYS,	2573,1833	510.9+/-367.7	761,1051,391	41	38	39		1028,1028,1028,	-1.8	0	8	dbSNP_116	39	825,7775	768.5+/-407.6	43,739,3518	no	missense,missense,missense,intron	TRIM55	NM_033058.2,NM_184085.1,NM_184086.1,NM_184087.1	26,26,26,	804,1790,3909	GG,GA,AA		9.593,41.6024,26.1264	benign,benign,benign,	343/541,343/549,343/453,	67064654	3398,9608	2203	4300	6503	SO:0001583	missense	84675	exon8			GAGAAAAAGAAGG	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1028A>G	8.37:g.67064654A>G	ENSP00000323913:p.Lys343Arg	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	27	11	0.407407	NM_184086	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	423	0.1936813186813187	312	0.6341463414634146	35	0.09668508287292818	0	0.0	76	0.10026385224274406	G	0.158	-1.083948	0.01888	0.583976	0.09593	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.27720	1.66;1.66;1.65	3.94	-1.8	0.07907	.	1.469880	0.04195	N	0.329017	T	0.00012	0.0000	N	0.08118	0	0.46901	P	7.540000000000324E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43845	-0.9366	9	0.24483	T	0.36	.	1.822	0.03112	0.5064:0.1493:0.1936:0.1507	rs7843605;rs52811956;rs7843605	343;343;343	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	R	343	ENSP00000323913:K343R;ENSP00000297348:K343R;ENSP00000276573:K343R	ENSP00000276573:K343R	K	+	2	0	TRIM55	67227208	0.055000	0.20627	0.000000	0.03702	0.040000	0.13550	-0.476000	0.06591	-0.529000	0.06358	-0.192000	0.12808	AAA	A|0.741;G|0.259	0.259	strong		0.413	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		G	67064654	A	G	67064654	3	3	22	1	0	0	0	0	1	0	0	0	16526	14	1	2	1058	2	TRIM55	8	67064654	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	547105	67064654	79299368	4801	9909										
RRS1	23212	hgsc.bcm.edu	37	chr8	67341378	67341378	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggagccatggagggccaGagcgtggaggagctgctcgc	19	11	0	1	rs3739334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67341378G>A	ENST00000320270.2	+	1	116	c.12G>A	c.(10-12)caG>caA	p.Q4Q	RP11-346I3.4_ENST00000499642.1_lincRNA	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	4					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGAGGGCCAGAGCGTGGAGG	0.607											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	614	0.122604	0.1369	0.219	5008	,	,		15531	0.1548		0.0398	False		,,,				2504	0.0869				p.Q4Q		Atlas-SNP	.											.	RRS1	13	.	0			c.G12A						PASS	.	G		577,3829	249.0+/-256.6	35,507,1661	55	50	52		12	-1.1	0	8	dbSNP_107	52	277,8323	104.0+/-165.0	5,267,4028	no	coding-synonymous	RRS1	NM_015169.3		40,774,5689	AA,AG,GG		3.2209,13.0958,6.5662		4/366	67341378	854,12152	2203	4300	6503	SO:0001819	synonymous_variant	23212	exon1			GGGCCAGAGCGTG	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.12G>A	8.37:g.67341378G>A		Somatic	142	0	0	1098	WXS	Illumina HiSeq	Phase_I	151	89	0.589404	NM_015169	Q9BUX8	Silent	SNP	ENST00000320270.2	37	CCDS6189.1																																																																																			G|0.919;A|0.081	0.081	strong		0.607	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		A	67341378	G	A	67341378	2	1	22	1	0	0	0	0	0	0	0	1	13692	933	33	2		2	RRS1	8	67341378	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	276724	67341378	79022644	4802	9910										
RRS1	23212	hgsc.bcm.edu	37	chr8	67342077	67342077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtggggcgctttcaggaGcgcctccccaaggagaaggt	15	11	2	1	rs3739337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67342077G>A	ENST00000320270.2	+	1	815	c.711G>A	c.(709-711)gaG>gaA	p.E237E	ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	237					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTTTCAGGAGCGCCTCCCCA	0.627													G|||	614	0.122604	0.1377	0.219	5008	,	,		15552	0.1538		0.0398	False		,,,				2504	0.0869				p.E237E		Atlas-SNP	.											.	RRS1	13	.	0			c.G711A						PASS	.	G		557,3829		35,487,1671	18	23	21		711	4	1	8	dbSNP_107	21	270,8312		3,264,4024	no	coding-synonymous	RRS1	NM_015169.3		38,751,5695	AA,AG,GG		3.1461,12.6995,6.3772		237/366	67342077	827,12141	2193	4291	6484	SO:0001819	synonymous_variant	23212	exon1			TCAGGAGCGCCTC	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.711G>A	8.37:g.67342077G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	33	14	0.424242	NM_015169	Q9BUX8	Silent	SNP	ENST00000320270.2	37	CCDS6189.1																																																																																			G|0.918;A|0.082	0.082	strong		0.627	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		A	67342077	G	A	67342077	2	1	22	1	0	0	0	0	0	0	0	1	13692	962	34	2		2	RRS1	8	67342077	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	699	67342077	79021945	4803	9911										
VCPIP1	80124	hgsc.bcm.edu	37	chr8	67577670	67577670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattgttcaagggaaagctGtaatttttgtcagtcctcag	9	6	3	0	rs3808602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67577670G>A	ENST00000310421.4	-	1	1782	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	508					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGGGAAAGCTGTAATTTTTGT	0.418													A|||	725	0.144768	0.4319	0.0562	5008	,	,		22571	0.0218		0.0318	False		,,,				2504	0.0624				p.Y508Y	NSCLC(179;265 2915 6144 43644)	Atlas-SNP	.											.	VCPIP1	110	.	0			c.C1524T						PASS	.	A		1619,2787	661.7+/-400.9	298,1023,882	163	173	169		1524	-1.3	1	8	dbSNP_107	169	194,8406	810.8+/-407.1	1,192,4107	no	coding-synonymous	VCPIP1	NM_025054.4		299,1215,4989	AA,AG,GG		2.2558,36.7453,13.9397		508/1223	67577670	1813,11193	2203	4300	6503	SO:0001819	synonymous_variant	80124	exon1			AAAGCTGTAATTT	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1524C>T	8.37:g.67577670G>A		Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	262	117	0.446565	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																			G|0.858;A|0.142	0.142	strong		0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67577670	G	A	67577670	2	1	22	1	0	0	0	0	0	0	0	1	17138	1372	48	2		2	VCPIP1	8	67577670	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	235593	67577670	78786352	4804	9912										
C8orf44	56260	hgsc.bcm.edu	37	chr8	67592152	67592152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaagactgtccaaaggctTctggagtcttctgttctcta	9	9	4	1	rs1057463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67592152T>C	ENST00000519561.1	+	3	594	c.443T>C	c.(442-444)tTc>tCc	p.F148S	C8orf44_ENST00000390159.3_Missense_Mutation_p.F148S|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000518860.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_5'UTR	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	148			F -> S (in dbSNP:rs1057463). {ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCAAAGGCTTCTGGAGTCTT	0.463													T|||	1094	0.21845	0.0514	0.2291	5008	,	,		17882	0.2401		0.2922	False		,,,				2504	0.3384				p.F148S		Atlas-SNP	.											.	C8orf44	18	.	0			c.T443C						PASS	.	T	SER/PHE,	403,4003	194.0+/-219.0	25,353,1825	47	50	49		443,	2.8	0	8	dbSNP_86	49	2536,6064	411.1+/-350.4	388,1760,2152	yes	missense,utr-5	C8orf44,C8orf44-SGK3	NM_019607.2,NM_001204173.1	155,	413,2113,3977	CC,CT,TT		29.4884,9.1466,22.5973	possibly-damaging,	148/160,	67592152	2939,10067	2203	4300	6503	SO:0001583	missense	56260	exon3			AAGGCTTCTGGAG	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.443T>C	8.37:g.67592152T>C	ENSP00000428002:p.Phe148Ser	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_019607	Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	CCDS6193.1	465	0.2129120879120879	26	0.052845528455284556	82	0.2265193370165746	131	0.229020979020979	226	0.29815303430079154	T	14.66	2.602370	0.46423	0.091466	0.294884	ENSG00000213865	ENST00000519561;ENST00000390159	T;T	0.38722	1.12;1.12	3.99	2.84	0.33178	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.40332	0.713	P	0.46629	0.522	T	0.30297	-0.9983	8	0.18276	T	0.48	.	6.239	0.20778	0.0:0.1126:0.0:0.8874	rs1057463;rs3198053;rs17845417;rs17858283;rs60902427;rs1057463	148	Q96CB5	CH044_HUMAN	S	148	ENSP00000428002:F148S;ENSP00000375087:F148S	ENSP00000375087:F148S	F	+	2	0	C8orf44	67754706	0.004000	0.15560	0.020000	0.16555	0.089000	0.18198	1.327000	0.33746	0.893000	0.36288	0.460000	0.39030	TTC	T|0.781;C|0.219	0.219	strong		0.463	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2	NM_019607		C	67592152	T	C	67592152	3	2	22	1	0	0	0	0	1	0	0	0	2429	1783	62	2	449	2	C8orf44	8	67592152	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14482	67592152	78771870	4805	9913										
C8orf45	157777	hgsc.bcm.edu	37	chr8	67809160	67809160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagggctgttttatgcggCttctagacagttcacaactg	11	8	2	2	rs35595089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:67809160C>G	ENST00000422365.2	+	12	1763	c.1592C>G	c.(1591-1593)gCt>gGt	p.A531G	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A531G|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A531G|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A468G	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	531					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTTTATGCGGCTTCTAGACAG	0.408													C|||	30	0.00599042	0.0227	0.0	5008	,	,		13579	0.0		0.0	False		,,,				2504	0.0				p.A531G		Atlas-SNP	.											.	MCMDC2	84	.	0			c.C1592G						PASS	.	C	GLY/ALA,GLY/ALA,GLY/ALA	93,4313	76.2+/-114.5	2,89,2112	100	100	100		1592,1592,1592	4.6	1	8	dbSNP_126	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	C8orf45	NM_001136160.1,NM_001136161.1,NM_173518.4	60,60,60	2,90,6411	GG,GC,CC		0.0116,2.1108,0.7227	possibly-damaging,possibly-damaging,possibly-damaging	531/633,531/591,531/682	67809160	94,12912	2203	4300	6503	SO:0001583	missense	157777	exon12			ATGCGGCTTCTAG	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1592C>G	8.37:g.67809160C>G	ENSP00000413632:p.Ala531Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	119	59	0.495798	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	10.04	1.240474	0.22711	0.021108	1.16E-4	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.51	4.57	0.56435	.	0.315894	0.33075	N	0.005315	T	0.12944	0.0314	L	0.40543	1.245	0.26863	N	0.967917	P;P;P	0.36354	0.493;0.549;0.549	B;B;B	0.41036	0.234;0.346;0.272	T	0.07233	-1.0783	10	0.22706	T	0.39	-9.108	6.8758	0.24147	0.1753:0.7144:0.0:0.1103	rs35595089;rs57404017	468;531;531	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	G	531;531;531;468	ENSP00000379837:A531G;ENSP00000413632:A531G;ENSP00000317234:A531G;ENSP00000445629:A468G	ENSP00000317234:A531G	A	+	2	0	C8orf45	67971714	0.967000	0.33354	0.996000	0.52242	0.225000	0.24961	2.515000	0.45512	2.763000	0.94921	0.650000	0.86243	GCT	C|0.993;G|0.007	0.007	strong		0.408	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		G	67809160	C	G	67809160	3	3	22	1	0	0	0	0	1	0	0	0	2430	797	28	4	1634	4	C8orf45	8	67809160	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	217008	67809160	78554862	4806	9914										
ARFGEF1	10565	hgsc.bcm.edu	37	chr8	68178397	68178397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtatctgtttattgtctcaGggtgtttgatttcactcatc	8	8	4	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:68178397G>A	ENST00000262215.3	-	14	2356	c.1967C>T	c.(1966-1968)cCt>cTt	p.P656L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373																																					p.P656L		Atlas-SNP	.											ARFGEF1,NS,carcinoma,0,1	ARFGEF1	196	1	1	Substitution - Missense(1)	endometrium(1)	c.C1967T						scavenged	.						133	123	127					8																	68178397		2202	4300	6502	SO:0001583	missense	10565	exon14			GTCTCAGGGTGTT	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1967C>T	8.37:g.68178397G>A	ENSP00000262215:p.Pro656Leu	Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	303	4	0.0132013	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746050	0.49151	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20738	2.92;2.05	5.83	5.83	0.93111	Armadillo-type fold (1);	0.106577	0.64402	D	0.000003	T	0.12860	0.0312	N	0.04820	-0.15	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20672	-1.0268	10	0.17832	T	0.49	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	656;110	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	L	110;656	ENSP00000428429:P110L;ENSP00000262215:P656L	ENSP00000262215:P656L	P	-	2	0	ARFGEF1	68340951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CCT	.	.	none		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		A	68178397	G	A	68178397	3	1	22	1	0	0	0	0	1	0	0	0	852	1000	35	2	3686	2	ARFGEF1	8	68178397	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	369237	68178397	78185625	4807	9915										
PREX2	80243	hgsc.bcm.edu	37	chr8	68968166	68968166	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaaatctgatcaaagacCgaaagagaaaactgactacg					rs1434774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:68968166C>A	ENST00000288368.4	+	10	1472	c.1195C>A	c.(1195-1197)Cga>Aga	p.R399R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	399	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GATCAAAGACCGAAAGAGAAA	0.398													A|||	2813	0.561701	0.8865	0.4755	5008	,	,		18944	0.2688		0.5239	False		,,,				2504	0.5245				p.R399R		Atlas-SNP	.											PREX2_ENST00000354677,NS,malignant_melanoma,-1,2	PREX2	614	2	0			c.C1195A						PASS	.	A	,	3625,781	314.7+/-293.7	1503,619,81	117	128	124		1195,1195	3.2	1	8	dbSNP_88	124	4214,4386	583.1+/-391.5	1038,2138,1124	no	coding-synonymous,coding-synonymous	PREX2	NM_024870.2,NM_025170.4	,	2541,2757,1205	AA,AC,CC		49.0,17.7258,39.7278	,	399/1607,399/980	68968166	7839,5167	2203	4300	6503	SO:0001819	synonymous_variant	80243	exon10			AAAGACCGAAAGA	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1195C>A	8.37:g.68968166C>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	83	26	0.313253	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																			C|0.420;A|0.580	0.580	strong		0.398	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	68968166	C	A	68968166	2	1	22	1	0	0	0	0	0	0	0	1	12477	644	23	4		4	PREX2	8	68968166	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	789769	68968166	77395856	4808	9916	206	2								
PREX2	80243	hgsc.bcm.edu	37	chr8	68968171	68968171	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctgatcaaagaccgaaaGagaaaactgactacgttccc					rs1434775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:68968171G>A	ENST00000288368.4	+	10	1477	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	400	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGACCGAAAGAGAAAACTGA	0.403													A|||	2813	0.561701	0.8865	0.4755	5008	,	,		18889	0.2688		0.5239	False		,,,				2504	0.5245				p.K400K		Atlas-SNP	.											.	PREX2	614	.	0			c.G1200A						PASS	.	A	,	3619,787	315.8+/-294.3	1498,623,82	119	130	126		1200,1200	3	1	8	dbSNP_88	126	4215,4385	583.0+/-391.5	1038,2139,1123	no	coding-synonymous,coding-synonymous	PREX2	NM_024870.2,NM_025170.4	,	2536,2762,1205	AA,AG,GG		49.0116,17.862,39.7663	,	400/1607,400/980	68968171	7834,5172	2203	4300	6503	SO:0001819	synonymous_variant	80243	exon10			CCGAAAGAGAAAA	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1200G>A	8.37:g.68968171G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	81	25	0.308642	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																			G|0.421;A|0.579	0.579	strong		0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	68968171	G	A	68968171	2	1	22	1	0	0	0	0	0	0	0	1	12477	933	33	2		2	PREX2	8	68968171	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5	68968171	77395851	4809	9917	206	2								
PREX2	80243	hgsc.bcm.edu	37	chr8	69104701	69104701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactgctgtcagtttcctcGgagctgtgcaacaggctggg	15	10	1	0	rs116570374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:69104701G>A	ENST00000288368.4	+	37	4822	c.4545G>A	c.(4543-4545)tcG>tcA	p.S1515S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1515					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGTTTCCTCGGAGCTGTGCA	0.557													G|||	28	0.00559105	0.0204	0.0014	5008	,	,		12376	0.0		0.0	False		,,,				2504	0.0				p.S1515S		Atlas-SNP	.											.	PREX2	614	.	0			c.G4545A						PASS	.	G		93,4313	75.7+/-113.9	1,91,2111	57	47	50		4545	-3.1	1	8	dbSNP_132	50	2,8598		0,2,4298	no	coding-synonymous	PREX2	NM_024870.2		1,93,6409	AA,AG,GG		0.0233,2.1108,0.7304		1515/1607	69104701	95,12911	2203	4300	6503	SO:0001819	synonymous_variant	80243	exon37			TTCCTCGGAGCTG	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4545G>A	8.37:g.69104701G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																			G|0.993;A|0.007	0.007	strong		0.557	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69104701	G	A	69104701	2	1	22	1	0	0	0	0	0	0	0	1	12477	1103	39	1		1	PREX2	8	69104701	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136530	69104701	77259321	4810	9918										
SLCO5A1	81796	hgsc.bcm.edu	37	chr8	70588878	70588878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacaaactgcattcccagTgcaaaaggtctctcctcatc	5	13	2	0	rs10448034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:70588878T>C	ENST00000260126.4	-	9	2761	c.2055A>G	c.(2053-2055)gcA>gcG	p.A685A	SLCO5A1_ENST00000524945.1_Intron|SLCO5A1_ENST00000530307.1_Silent_p.A630A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	685						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCATTCCCAGTGCAAAAGGTC	0.418													C|||	520	0.103834	0.1551	0.1009	5008	,	,		19120	0.005		0.161	False		,,,				2504	0.0798				p.A685A		Atlas-SNP	.											.	SLCO5A1	142	.	0			c.A2055G						PASS	.	C	,,	589,3817	771.7+/-413.8	28,533,1642	157	133	141		,1890,2055	-12.3	0	8	dbSNP_119	141	1407,7193	753.5+/-407.4	114,1179,3007	yes	intron,coding-synonymous,coding-synonymous	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	,,	142,1712,4649	CC,CT,TT		16.3605,13.3681,15.3468	,,	,630/794,685/849	70588878	1996,11010	2203	4300	6503	SO:0001819	synonymous_variant	81796	exon9			TCCCAGTGCAAAA	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2055A>G	8.37:g.70588878T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	107	51	0.476636	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	CCDS6205.1																																																																																			T|0.864;C|0.136	0.136	strong		0.418	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		C	70588878	T	C	70588878	2	2	22	1	0	0	0	0	0	0	0	1	14731	1683	59	2		2	SLCO5A1	8	70588878	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1484177	70588878	75775144	4811	9919										
PRDM14	63978	hgsc.bcm.edu	37	chr8	70964399	70964399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgcatgagcagccatcAtcctccttgtgtgaacgccg	10	13	1	2	rs10089937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:70964399A>G	ENST00000276594.2	-	8	1830	c.1629T>C	c.(1627-1629)gaT>gaC	p.D543D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	543					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGCAGCCATCATCCTCCTTGT	0.498													A|||	3234	0.645767	0.5847	0.6037	5008	,	,		21867	0.7302		0.6143	False		,,,				2504	0.7035				p.D543D	NSCLC(129;99 1813 5906 40656 46114)	Atlas-SNP	.											.	PRDM14	102	.	0			c.T1629C						PASS	.	A		2701,1705	652.5+/-399.4	825,1051,327	136	127	130		1629	-9.4	0	8	dbSNP_119	130	5399,3201	653.0+/-401.0	1698,2003,599	no	coding-synonymous	PRDM14	NM_024504.2		2523,3054,926	GG,GA,AA		37.2209,38.6972,37.7211		543/572	70964399	8100,4906	2203	4300	6503	SO:0001819	synonymous_variant	63978	exon8			GCCATCATCCTCC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1629T>C	8.37:g.70964399A>G		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_024504	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			A|0.364;G|0.636	0.636	strong		0.498	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			G	70964399	A	G	70964399	2	3	22	1	0	0	0	0	0	0	0	1	12455	214	8	2		2	PRDM14	8	70964399	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	375521	70964399	75399623	4812	9920										
PRDM14	63978	hgsc.bcm.edu	37	chr8	70967607	70967607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttgtttaggctggaagaTtgagagaaacatttcccaca	10	6	0	3	rs3750225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:70967607T>C	ENST00000276594.2	-	7	1617	c.1416A>G	c.(1414-1416)caA>caG	p.Q472Q		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	472					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCTGGAAGATTGAGAGAAAC	0.393													C|||	3594	0.717652	0.8442	0.6282	5008	,	,		19026	0.7302		0.6143	False		,,,				2504	0.7035				p.Q472Q	NSCLC(129;99 1813 5906 40656 46114)	Atlas-SNP	.											.	PRDM14	102	.	0			c.A1416G						PASS	.	C		3575,831	329.9+/-301.2	1438,699,66	168	143	152		1416	3.3	1	8	dbSNP_107	152	5414,3186	482.2+/-370.8	1703,2008,589	no	coding-synonymous	PRDM14	NM_024504.2		3141,2707,655	CC,CT,TT		37.0465,18.8606,30.8857		472/572	70967607	8989,4017	2203	4300	6503	SO:0001819	synonymous_variant	63978	exon7			GGAAGATTGAGAG	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1416A>G	8.37:g.70967607T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_024504	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			T|0.294;C|0.706	0.706	strong		0.393	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			C	70967607	T	C	70967607	2	2	22	1	0	0	0	0	0	0	0	1	12455	1490	52	2		2	PRDM14	8	70967607	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3208	70967607	75396415	4813	9921										
PRDM14	63978	hgsc.bcm.edu	37	chr8	70978690	70978690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acataggacatccagttcccCgtacctccttttccatctat	4	15	1	0	rs3750227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:70978690C>T	ENST00000276594.2	-	5	1164	c.963G>A	c.(961-963)acG>acA	p.T321T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	321	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCAGTTCCCCGTACCTCCTT	0.413													C|||	810	0.161741	0.2042	0.0994	5008	,	,		18073	0.3155		0.0398	False		,,,				2504	0.1155				p.T321T	NSCLC(129;99 1813 5906 40656 46114)	Atlas-SNP	.											.	PRDM14	102	.	0			c.G963A						PASS	.	C		802,3604	322.6+/-297.7	71,660,1472	119	119	119		963	-11.8	0	8	dbSNP_107	119	386,8214	125.1+/-183.8	10,366,3924	no	coding-synonymous	PRDM14	NM_024504.2		81,1026,5396	TT,TC,CC		4.4884,18.2025,9.1342		321/572	70978690	1188,11818	2203	4300	6503	SO:0001819	synonymous_variant	63978	exon5			GTTCCCCGTACCT	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.963G>A	8.37:g.70978690C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	176	77	0.4375	NM_024504	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			C|0.874;T|0.126	0.126	strong		0.413	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			T	70978690	C	T	70978690	2	4	22	1	0	0	0	0	0	0	0	1	12455	639	23	1		1	PRDM14	8	70978690	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11083	70978690	75385332	4814	9922										
C8orf84	157869	hgsc.bcm.edu	37	chr8	74005179	74005179	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgtagaccctgtccagccTccagccgcgggcgaagcagg	13	17	0	1	rs114228241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:74005179T>G	ENST00000297354.6	-	1	328	c.124A>C	c.(124-126)Agg>Cgg	p.R42R	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	42	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CTGTCCAGCCTCCAGCCGCGG	0.741													T|||	588	0.117412	0.171	0.0461	5008	,	,		7673	0.251		0.0089	False		,,,				2504	0.0695				p.R42R		Atlas-SNP	.											.	.	.	.	0			c.A124C						PASS	.	T		372,3366		23,326,1520	14	22	20		124	2.7	1	8	dbSNP_132	20	36,8130		0,36,4047	no	coding-synonymous	C8orf84	NM_153225.3		23,362,5567	GG,GT,TT		0.4409,9.9518,3.4274		42/265	74005179	408,11496	1869	4083	5952	SO:0001819	synonymous_variant	157869	exon1			CCAGCCTCCAGCC		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.124A>C	8.37:g.74005179T>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	62	23	0.370968	NM_153225	A8KAA5|Q96J64	Silent	SNP	ENST00000297354.6	37	CCDS43747.2																																																																																			T|0.913;G|0.087	0.087	strong		0.741	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		G	74005179	T	G	74005179	2	3	22	1	0	0	0	0	0	0	0	1	2440	1550	54	5		5	C8orf84	8	74005179	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3026489	74005179	72358843	4815	9923										
STAU2	27067	hgsc.bcm.edu	37	chr8	74526081	74526081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaagacggtggtcgcagcGcgcttcttggagagtttttt	14	7	1	2	rs28728027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:74526081G>A	ENST00000521451.1	-	4	505	c.129C>T	c.(127-129)cgC>cgT	p.R43R	STAU2_ENST00000523558.1_Silent_p.R91R|STAU2_ENST00000522509.1_Silent_p.R231R|STAU2_ENST00000521727.1_Silent_p.R243R|STAU2_ENST00000517542.1_Silent_p.R225R|STAU2_ENST00000519961.1_Silent_p.R263R|STAU2_ENST00000521210.1_Silent_p.R159R|STAU2_ENST00000355780.5_Silent_p.R231R|STAU2_ENST00000522695.1_Silent_p.R231R|STAU2_ENST00000524300.1_Silent_p.R263R			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	263	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGGTCGCAGCGCGCTTCTTGG	0.418													G|||	28	0.00559105	0.0189	0.0043	5008	,	,		15334	0.0		0.0	False		,,,				2504	0.0				p.R263R		Atlas-SNP	.											STAU2_ENST00000524300,NS,carcinoma,-1,3	STAU2	148	3	0			c.C789T						PASS	.	G	,,,,,,	79,4327	68.1+/-105.8	1,77,2125	88	83	85		789,693,477,273,693,675,693	-11.9	0.3	8	dbSNP_125	85	3,8597	2.2+/-6.3	0,3,4297	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	STAU2	NM_001164380.1,NM_001164381.1,NM_001164382.1,NM_001164383.1,NM_001164384.1,NM_001164385.1,NM_014393.2	,,,,,,	1,80,6422	AA,AG,GG		0.0349,1.793,0.6305	,,,,,,	263/571,231/539,159/505,91/399,231/480,225/474,231/480	74526081	82,12924	2203	4300	6503	SO:0001819	synonymous_variant	27067	exon9			CGCAGCGCGCTTC	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.129C>T	8.37:g.74526081G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	56	26	0.464286	NM_001164380	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	37																																																																																				G|0.995;A|0.005	0.005	strong		0.418	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		A	74526081	G	A	74526081	2	1	22	1	0	0	0	0	0	0	0	1	15272	1074	38	1		1	STAU2	8	74526081	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	520902	74526081	71837941	4816	9924										
PI15	51050	hgsc.bcm.edu	37	chr8	75737636	75737636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagcacaattagattcagCggatatccccaaagccaggc	9	11	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:75737636C>T	ENST00000260113.2	+	2	331	c.152C>T	c.(151-153)gCg>gTg	p.A51V	PI15_ENST00000523773.1_Missense_Mutation_p.A51V|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	51						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.A51V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTAGATTCAGCGGATATCCCC	0.468																																					p.A51V		Atlas-SNP	.											PI15,colon,carcinoma,0,2	PI15	73	2	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C152T						scavenged	.						101	93	95					8																	75737636		2203	4300	6503	SO:0001583	missense	51050	exon2			ATTCAGCGGATAT	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.152C>T	8.37:g.75737636C>T	ENSP00000260113:p.Ala51Val	Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678959	0.29783	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09723	2.95;2.95	5.35	3.54	0.40534	CAP domain (1);	0.493618	0.22667	N	0.057111	T	0.06690	0.0171	N	0.14661	0.345	0.47009	D	0.999284	B	0.09022	0.002	B	0.04013	0.001	T	0.30416	-0.9979	10	0.22706	T	0.39	.	12.2372	0.54522	0.0:0.8614:0.0:0.1386	.	51	O43692	PI15_HUMAN	V	51	ENSP00000260113:A51V;ENSP00000428567:A51V	ENSP00000260113:A51V	A	+	2	0	PI15	75900191	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.516000	0.35856	0.923000	0.37045	0.655000	0.94253	GCG	.	.	none		0.468	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		T	75737636	C	T	75737636	3	4	22	1	0	0	0	0	1	0	0	0	11868	768	27	1	154	1	PI15	8	75737636	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1211555	75737636	70626386	4817	9925										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77690563	77690563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtccgttcggtgaagcaTcagcagactgagggcctacg	13	11	1	3	rs16939357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:77690563T>C	ENST00000521891.2	+	4	3661	c.3213T>C	c.(3211-3213)caT>caC	p.H1071H	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.H1045H|ZFHX4_ENST00000050961.6_Silent_p.H1045H|ZFHX4_ENST00000518282.1_Silent_p.H1045H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1045					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)			CGGTGAAGCATCAGCAGACTG	0.512										HNSCC(33;0.089)			T|||	1677	0.334864	0.5983	0.2147	5008	,	,		19847	0.3929		0.167	False		,,,				2504	0.1769				p.H1071H		Atlas-SNP	.											.	ZFHX4	878	.	0			c.T3213C						PASS	.	T		2200,1942		598,1004,469	151	161	158		3213	3.2	1	8	dbSNP_123	158	1300,7112		102,1096,3008	no	coding-synonymous	ZFHX4	NM_024721.4		700,2100,3477	CC,CT,TT		15.4541,46.8856,27.8796		1071/3617	77690563	3500,9054	2071	4206	6277	SO:0001819	synonymous_variant	79776	exon4			GAAGCATCAGCAG		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.3213T>C	8.37:g.77690563T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	120	59	0.491667	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			T|0.674;C|0.326	0.326	strong		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77690563	T	C	77690563	2	2	22	1	0	0	0	0	0	0	0	1	17632	1432	50	2		2	ZFHX4	8	77690563	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1952927	77690563	68673459	4818	9926										
PAG1	55824	hgsc.bcm.edu	37	chr8	81897200	81897200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattttttgtttctgtccacCgaggcatattcagcaaactc	6	11	2	0	rs7006101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:81897200C>T	ENST00000220597.4	-	7	1397	c.687G>A	c.(685-687)tcG>tcA	p.S229S		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	229					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTCTGTCCACCGAGGCATATT	0.488													C|||	704	0.140575	0.2852	0.0865	5008	,	,		20851	0.001		0.1083	False		,,,				2504	0.1605				p.S229S		Atlas-SNP	.											.	PAG1	39	.	0			c.G687A						PASS	.	C		1092,3314	394.2+/-329.2	141,810,1252	121	119	120		687	-11.1	0	8	dbSNP_116	120	849,7751	193.2+/-239.0	40,769,3491	no	coding-synonymous	PAG1	NM_018440.3		181,1579,4743	TT,TC,CC		9.8721,24.7844,14.9239		229/433	81897200	1941,11065	2203	4300	6503	SO:0001819	synonymous_variant	55824	exon7			GTCCACCGAGGCA	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.687G>A	8.37:g.81897200C>T		Somatic	384	0	0		WXS	Illumina HiSeq	Phase_I	371	183	0.493261	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																			C|0.853;T|0.147	0.147	strong		0.488	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		T	81897200	C	T	81897200	2	4	22	1	0	0	0	0	0	0	0	1	11388	639	23	1		1	PAG1	8	81897200	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4206637	81897200	64466822	4819	9927										
PAG1	55824	hgsc.bcm.edu	37	chr8	81905397	81905397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaagaaaatggcgacagcAgccagacttccccacagggt	11	12	0	2	rs2016465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:81905397A>G	ENST00000220597.4	-	4	776	c.66T>C	c.(64-66)gcT>gcC	p.A22A		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	22					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGGCGACAGCAGCCAGACTTC	0.567													G|||	2624	0.523962	0.8487	0.3156	5008	,	,		18022	0.5268		0.326	False		,,,				2504	0.4335				p.A22A		Atlas-SNP	.											.	PAG1	39	.	0			c.T66C						PASS	.	G		3250,1156	410.4+/-335.4	1214,822,167	81	75	77		66	-10.7	0	8	dbSNP_92	77	2778,5822	678.6+/-403.5	439,1900,1961	no	coding-synonymous	PAG1	NM_018440.3		1653,2722,2128	GG,GA,AA		32.3023,26.2369,46.3478		22/433	81905397	6028,6978	2203	4300	6503	SO:0001819	synonymous_variant	55824	exon4			GACAGCAGCCAGA	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.66T>C	8.37:g.81905397A>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																			A|0.513;G|0.487	0.487	strong		0.567	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		G	81905397	A	G	81905397	2	3	22	1	0	0	0	0	0	0	0	1	11388	175	7	3		3	PAG1	8	81905397	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8197	81905397	64458625	4820	9928										
PMP2	5375	hgsc.bcm.edu	37	chr8	82357112	82357112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcctagcttgaaggagatTtctgtatttttaaaggtact	10	5	1	2	rs2229015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:82357112T>C	ENST00000256103.2	-	2	322	c.186A>G	c.(184-186)gaA>gaG	p.E62E	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	62					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGAAGGAGATTTCTGTATTTT	0.398													C|||	1760	0.351438	0.357	0.3285	5008	,	,		19779	0.748		0.1412	False		,,,				2504	0.1677				p.E62E		Atlas-SNP	.											.	PMP2	21	.	0			c.A186G						PASS	.	C		1469,2937	678.9+/-403.6	258,953,992	142	140	141		186	4.6	1	8	dbSNP_98	141	1449,7151	750.6+/-407.4	131,1187,2982	no	coding-synonymous	PMP2	NM_002677.3		389,2140,3974	CC,CT,TT		16.8488,33.3409,22.4358		62/133	82357112	2918,10088	2203	4300	6503	SO:0001819	synonymous_variant	5375	exon2			GGAGATTTCTGTA	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.186A>G	8.37:g.82357112T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_002677	Q6FHL4	Silent	SNP	ENST00000256103.2	37	CCDS6229.1																																																																																			T|0.706;C|0.294	0.294	strong		0.398	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		C	82357112	T	C	82357112	2	2	22	1	0	0	0	0	0	0	0	1	12138	1838	64	2		2	PMP2	8	82357112	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	451715	82357112	64006910	4821	9929										
PSKH2	85481	hgsc.bcm.edu	37	chr8	87060793	87060793	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttagaagactgtgcagaTccaggactctgagagtgggg	15	7	1	4	rs28483271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87060793T>A	ENST00000276616.2	-	3	1130	c.1056A>T	c.(1054-1056)ggA>ggT	p.G352G		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	352							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ACTGTGCAGATCCAGGACTCT	0.498													T|||	124	0.0247604	0.0885	0.0101	5008	,	,		16173	0.0		0.0	False		,,,				2504	0.0				p.G352G		Atlas-SNP	.											.	PSKH2	79	.	0			c.A1056T						PASS	.	T		302,4104	164.0+/-195.7	9,284,1910	113	117	115		1056	0	0.5	8	dbSNP_125	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSKH2	NM_033126.1		9,285,6209	AA,AT,TT		0.0116,6.8543,2.3297		352/386	87060793	303,12703	2203	4300	6503	SO:0001819	synonymous_variant	85481	exon3			TGCAGATCCAGGA	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.1056A>T	8.37:g.87060793T>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	142	69	0.485915	NM_033126	A0AV22	Silent	SNP	ENST00000276616.2	37	CCDS6240.1																																																																																			T|0.966;A|0.034	0.034	strong		0.498	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		A	87060793	T	A	87060793	2	1	22	1	0	0	0	0	0	0	0	1	12665	1422	50	5		5	PSKH2	8	87060793	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4703681	87060793	59303229	4822	9930										
PSKH2	85481	hgsc.bcm.edu	37	chr8	87076651	87076651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccattaccatgtaaactTgatcctcagtctcaaagatc	5	12	2	2	rs16879427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87076651T>C	ENST00000276616.2	-	2	469	c.395A>G	c.(394-396)cAa>cGa	p.Q132R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> R (in dbSNP:rs16879427). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CATGTAAACTTGATCCTCAGT	0.542													C|||	503	0.100439	0.3533	0.036	5008	,	,		15987	0.0		0.005	False		,,,				2504	0.0061				p.Q132R		Atlas-SNP	.											PSKH2,right_upper_lobe,carcinoma,-1,1	PSKH2	79	1	0			c.A395G						PASS	.	C	ARG/GLN	1304,3102	697.8+/-406.3	192,920,1091	86	82	83		395	2.5	0	8	dbSNP_123	83	19,8581	818.4+/-406.9	0,19,4281	yes	missense	PSKH2	NM_033126.1	43	192,939,5372	CC,CT,TT		0.2209,29.596,10.1722	benign	132/386	87076651	1323,11683	2203	4300	6503	SO:0001583	missense	85481	exon2			TAAACTTGATCCT	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.395A>G	8.37:g.87076651T>C	ENSP00000276616:p.Gln132Arg	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	142	70	0.492958	NM_033126	A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	CCDS6240.1	186	0.08516483516483517	172	0.34959349593495936	12	0.03314917127071823	0	0.0	2	0.002638522427440633	C	0.021	-1.427937	0.01117	0.29596	0.002209	ENSG00000147613	ENST00000276616	T	0.64803	-0.12	5.22	2.46	0.29980	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	0.00012	0.0000	N	0.10874	0.06	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.28586	-1.0039	8	0.07175	T	0.84	.	9.205	0.37285	0.0:0.6926:0.0:0.3074	rs16879427;rs52809304;rs16879427	132	Q96QS6	KPSH2_HUMAN	R	132	ENSP00000276616:Q132R	ENSP00000276616:Q132R	Q	-	2	0	PSKH2	87145767	0.895000	0.30542	0.003000	0.11579	0.206000	0.24218	1.883000	0.39658	-0.015000	0.14150	-0.702000	0.03669	CAA	T|0.874;C|0.126	0.126	strong		0.542	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		C	87076651	T	C	87076651	3	2	22	1	0	0	0	0	1	0	0	0	12665	1812	63	2	768	2	PSKH2	8	87076651	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15858	87076651	59287371	4823	9931										
ATP6V0D2	245972	hgsc.bcm.edu	37	chr8	87162515	87162515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacgtagcggatcattacGgagtatgtgatgacactggc	13	7	1	3	rs10094744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87162515G>A	ENST00000285393.3	+	6	956	c.814G>A	c.(814-816)Gga>Aga	p.G272R	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	272			G -> R (in dbSNP:rs10094744).		ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGATCATTACGGAGTATGTGA	0.453													G|||	152	0.0303514	0.1089	0.0115	5008	,	,		18274	0.0		0.0	False		,,,				2504	0.0				p.G272R		Atlas-SNP	.											.	ATP6V0D2	61	.	0			c.G814A						PASS	.	G	ARG/GLY	421,3985	204.5+/-226.7	19,383,1801	100	90	94		814	5.3	0.1	8	dbSNP_119	94	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ATP6V0D2	NM_152565.1	125	19,388,6096	AA,AG,GG		0.0581,9.5552,3.2754	benign	272/351	87162515	426,12580	2203	4300	6503	SO:0001583	missense	245972	exon6			CATTACGGAGTAT	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.814G>A	8.37:g.87162515G>A	ENSP00000285393:p.Gly272Arg	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	101	45	0.445545	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	37	0.01694139194139194	35	0.07113821138211382	2	0.0055248618784530384	0	0.0	0	0.0	G	14.33	2.504335	0.44558	0.095552	5.81E-4	ENSG00000147614	ENST00000285393	T	0.29917	1.55	6.17	5.27	0.74061	.	0.585174	0.17628	N	0.167492	T	0.00724	0.0024	L	0.48642	1.525	0.23689	N	0.997107	D	0.53462	0.96	B	0.38194	0.267	T	0.01940	-1.1243	10	0.40728	T	0.16	-22.0686	16.0952	0.81114	0.0:0.0:0.8659:0.1341	rs10094744;rs52810720;rs10094744	272	Q8N8Y2	VA0D2_HUMAN	R	272	ENSP00000285393:G272R	ENSP00000285393:G272R	G	+	1	0	ATP6V0D2	87231631	0.153000	0.22777	0.096000	0.21009	0.040000	0.13550	3.075000	0.50073	2.941000	0.99782	0.655000	0.94253	GGA	G|0.970;A|0.030	0.030	strong		0.453	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		A	87162515	G	A	87162515	3	1	22	1	0	0	0	0	1	0	0	0	1174	1117	39	1	836	1	ATP6V0D2	8	87162515	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85864	87162515	59201507	4824	9932										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87229948	87229948	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagatatattggtctcgaTgatttaaatatagaaatcag	8	4	2	3	rs4621787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87229948T>A	ENST00000297524.3	-	3	1033	c.930A>T	c.(928-930)tcA>tcT	p.S310S	SLC7A13_ENST00000419776.2_Silent_p.S301S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	310						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTGGTCTCGATGATTTAAATA	0.388													T|||	843	0.168331	0.1921	0.2363	5008	,	,		15021	0.1419		0.0845	False		,,,				2504	0.2014				p.S310S		Atlas-SNP	.											.	SLC7A13	97	.	0			c.A930T						PASS	.	T		797,3609	283.1+/-276.9	114,569,1520	82	95	91		930	-1.8	0	8	dbSNP_111	91	774,7818	179.5+/-228.6	31,712,3553	no	coding-synonymous	SLC7A13	NM_138817.2		145,1281,5073	AA,AT,TT		9.0084,18.089,12.0865		310/471	87229948	1571,11427	2203	4296	6499	SO:0001819	synonymous_variant	157724	exon3			TCTCGATGATTTA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.930A>T	8.37:g.87229948T>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_138817	Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																			A|0.126;G|0.000;T|0.873	0.126	strong		0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		A	87229948	T	A	87229948	2	1	22	1	0	0	0	0	0	0	0	1	14695	1451	51	5		5	SLC7A13	8	87229948	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67433	87229948	59134074	4825	9933										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87241847	87241847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataagtgtaaagcatgccccGcctgaatatgcaaaatatcc	7	10	0	1	rs7814198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87241847G>A	ENST00000297524.3	-	1	763	c.660C>T	c.(658-660)ggC>ggT	p.G220G	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Splice_Site	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	220						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGCATGCCCCGCCTGAATATG	0.353													G|||	2232	0.445687	0.4932	0.4481	5008	,	,		21344	0.502		0.2296	False		,,,				2504	0.544				p.G220G		Atlas-SNP	.											.	SLC7A13	97	.	0			c.C660T						PASS	.	G		1947,2459	552.0+/-378.4	443,1061,699	140	134	136		660	-9.4	0	8	dbSNP_116	136	2012,6588	352.7+/-328.8	237,1538,2525	no	coding-synonymous	SLC7A13	NM_138817.2		680,2599,3224	AA,AG,GG		23.3953,44.1897,30.4398		220/471	87241847	3959,9047	2203	4300	6503	SO:0001819	synonymous_variant	157724	exon1			TGCCCCGCCTGAA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.660C>T	8.37:g.87241847G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	67	36	0.537313	NM_138817	Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1	803	0.3676739926739927	211	0.42886178861788615	142	0.39226519337016574	271	0.4737762237762238	179	0.23614775725593667	G	2.670	-0.277869	0.05679	0.441897	0.233953	ENSG00000164893	ENST00000419776	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	.	.	.	.	.	.	0.38146	P	0.061417000000000055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1558	0.20335	0.5134:0.0:0.1228:0.3638	rs7814198;rs59432753;rs7814198	.	.	.	.	-1	.	.	.	-	.	.	SLC7A13	87310963	0.001000	0.12720	0.000000	0.03702	0.452000	0.32318	-1.919000	0.01572	-2.658000	0.00420	-1.263000	0.01449	.	G|0.644;A|0.356	0.356	strong		0.353	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		A	87241847	G	A	87241847	2	1	22	1	0	0	0	0	0	0	0	1	14695	1074	38	1		1	SLC7A13	8	87241847	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11899	87241847	59122175	4826	9934										
WWP1	11059	hgsc.bcm.edu	37	chr8	87414308	87414308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacaagcactctagtccaAaactcatgctgctcgtatgt	6	13	2	0	rs10106066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87414308A>G	ENST00000517970.1	+	8	907	c.600A>G	c.(598-600)caA>caG	p.Q200Q	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Silent_p.Q200Q|WWP1_ENST00000341922.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	200					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTCTAGTCCAAAACTCATGCT	0.408													A|||	265	0.0529153	0.1921	0.013	5008	,	,		16493	0.0		0.001	False		,,,				2504	0.001				p.Q200Q		Atlas-SNP	.											.	WWP1	97	.	0			c.A600G						PASS	.	A		678,3728	286.0+/-278.5	47,584,1572	119	105	109		600	-4.8	0	8	dbSNP_119	109	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	WWP1	NM_007013.3		47,589,5867	GG,GA,AA		0.0581,15.3881,5.2514		200/923	87414308	683,12323	2203	4300	6503	SO:0001819	synonymous_variant	11059	exon8			AGTCCAAAACTCA	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.600A>G	8.37:g.87414308A>G		Somatic	216	1	0.00462963		WXS	Illumina HiSeq	Phase_I	196	104	0.530612	NM_007013	O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																			.	.	weak		0.408	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		G	87414308	A	G	87414308	2	3	22	1	0	0	0	0	0	0	0	1	17412	11	1	2		2	WWP1	8	87414308	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	172461	87414308	58949714	4827	9935										
WWP1	11059	hgsc.bcm.edu	37	chr8	87439926	87439926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattatgtggatcataacacCagaacaacaacgtggcagcg	9	9	1	1	rs60177164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87439926C>T	ENST00000517970.1	+	11	1519	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	WWP1_ENST00000349423.2_Silent_p.T186T|WWP1_ENST00000341922.2_Silent_p.T274T|WWP1_ENST00000265428.4_Silent_p.T404T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	404	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATCATAACACCAGAACAACAA	0.393													C|||	793	0.158347	0.5265	0.0749	5008	,	,		15248	0.002		0.0278	False		,,,				2504	0.0153				p.T404T		Atlas-SNP	.											.	WWP1	97	.	0			c.C1212T						PASS	.	C		1754,2652	522.7+/-370.9	352,1050,801	154	149	151		1212	2.7	1	8	dbSNP_129	151	195,8405	84.5+/-147.0	1,193,4106	no	coding-synonymous	WWP1	NM_007013.3		353,1243,4907	TT,TC,CC		2.2674,39.8094,14.9854		404/923	87439926	1949,11057	2203	4300	6503	SO:0001819	synonymous_variant	11059	exon11			TAACACCAGAACA	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1212C>T	8.37:g.87439926C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	96	50	0.520833	NM_007013	O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																			C|0.862;T|0.138	0.138	strong		0.393	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		T	87439926	C	T	87439926	2	4	22	1	0	0	0	0	0	0	0	1	17412	581	21	2		2	WWP1	8	87439926	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25618	87439926	58924096	4828	9936										
CPNE3	8895	hgsc.bcm.edu	37	chr8	87558846	87558846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatttgaatgcataaatgaGaaaaaaaggcaaaagaaaaa	8	2	0	3	rs41333046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87558846G>C	ENST00000521271.1	+	10	918	c.756G>C	c.(754-756)gaG>gaC	p.E252D	CPNE3_ENST00000198765.4_Missense_Mutation_p.E252D	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	252			E -> D (in dbSNP:rs41333046).		lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GCATAAATGAGAAAAAAAGGC	0.308													G|||	571	0.114018	0.41	0.0303	5008	,	,		17040	0.004		0.003	False		,,,				2504	0.001				p.E252D		Atlas-SNP	.											CPNE3,NS,carcinoma,0,1	CPNE3	65	1	0			c.G756C						PASS	.	G	ASP/GLU	1372,3034	453.4+/-350.3	207,958,1038	90	103	98		756	1.6	1	8	dbSNP_127	98	14,8586	8.4+/-32.0	0,14,4286	yes	missense	CPNE3	NM_003909.3	45	207,972,5324	CC,CG,GG		0.1628,31.1394,10.6566	benign	252/538	87558846	1386,11620	2203	4300	6503	SO:0001583	missense	8895	exon10			AAATGAGAAAAAA	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.756G>C	8.37:g.87558846G>C	ENSP00000430934:p.Glu252Asp	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	270	141	0.522222	NM_003909	A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	199|199	0.09111721611721611|0.09111721611721611	186|186	0.3780487804878049|0.3780487804878049	11|11	0.03038674033149171|0.03038674033149171	1|1	0.0017482517482517483|0.0017482517482517483	1|1	0.0013192612137203166|0.0013192612137203166	G|G	14.05|14.05	2.420410|2.420410	0.42918|0.42918	0.311394|0.311394	0.001628|0.001628	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271|ENST00000517391	T;T|.	0.39787|.	1.06;1.06|.	5.52|5.52	1.62|1.62	0.23740|0.23740	C2 calcium/lipid-binding domain, CaLB (1);|.	0.106801|.	0.64402|.	D|.	0.000001|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.45352|0.45352	1.415|1.415	0.27719|0.27719	P|P	0.9451934|0.9451934	B|.	0.32051|.	0.354|.	B|.	0.26614|.	0.071|.	T|T	0.40739|0.40739	-0.9547|-0.9547	9|4	0.59425|.	D|.	0.04|.	-12.9148|-12.9148	9.7986|9.7986	0.40751|0.40751	0.5228:0.0:0.4772:0.0|0.5228:0.0:0.4772:0.0	rs41333046|rs41333046	252|.	O75131|.	CPNE3_HUMAN|.	D|T	252|141	ENSP00000198765:E252D;ENSP00000430934:E252D|.	ENSP00000198765:E252D|.	E|R	+|+	3|2	2|0	CPNE3|CPNE3	87627962|87627962	0.931000|0.931000	0.31567|0.31567	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	0.121000|0.121000	0.15667|0.15667	0.078000|0.078000	0.16900|0.16900	-0.355000|-0.355000	0.07637|0.07637	GAG|AGA	G|0.888;C|0.112	0.112	strong		0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			C	87558846	G	C	87558846	3	2	22	1	0	0	0	0	1	0	0	0	3813	933	33	4	786	4	CPNE3	8	87558846	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118920	87558846	58805176	4829	9937										
CNGB3	54714	hgsc.bcm.edu	37	chr8	87588198	87588198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caataggacttgctgtacatTcaggtctgtccagtggcttc	10	10	2	0	rs3735972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87588198T>C	ENST00000320005.5	-	18	2311	c.2264A>G	c.(2263-2265)gAa>gGa	p.E755G		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	755			E -> G (in dbSNP:rs3735972). {ECO:0000269|PubMed:10958649, ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGCTGTACATTCAGGTCTGTC	0.398													T|||	412	0.0822684	0.0696	0.085	5008	,	,		18346	0.1022		0.0885	False		,,,				2504	0.0706				p.E755G		Atlas-SNP	.											CNGB3,NS,carcinoma,-1,1	CNGB3	176	1	0			c.A2264G						PASS	.	T	GLY/GLU	310,4096	167.6+/-198.6	11,288,1904	242	243	243		2264	3	0	8	dbSNP_107	243	743,7857	179.5+/-228.6	32,679,3589	yes	missense	CNGB3	NM_019098.4	98	43,967,5493	CC,CT,TT		8.6395,7.0359,8.0963	benign	755/810	87588198	1053,11953	2203	4300	6503	SO:0001583	missense	54714	exon18			GTACATTCAGGTC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2264A>G	8.37:g.87588198T>C	ENSP00000316605:p.Glu755Gly	Somatic	317	1	0.00315457		WXS	Illumina HiSeq	Phase_I	323	172	0.532508	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	177	0.08104395604395605	29	0.05894308943089431	33	0.09116022099447514	48	0.08391608391608392	67	0.08839050131926121	T	10.79	1.449535	0.26074	0.070359	0.086395	ENSG00000170289	ENST00000320005	D	0.97186	-4.28	5.37	2.97	0.34412	.	0.666605	0.14178	N	0.336259	T	0.38665	0.1049	N	0.14661	0.345	0.80722	P	0.0	B;B	0.27732	0.187;0.118	B;B	0.27500	0.08;0.037	T	0.73808	-0.3866	9	0.28530	T	0.3	.	6.4711	0.22009	0.0:0.0817:0.1575:0.7608	rs3735972;rs52818605;rs56540041;rs57600088;rs3735972	750;755	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	G	755	ENSP00000316605:E755G	ENSP00000316605:E755G	E	-	2	0	CNGB3	87657314	0.002000	0.14202	0.000000	0.03702	0.022000	0.10575	1.196000	0.32198	0.426000	0.26116	0.383000	0.25322	GAA	T|0.921;C|0.079	0.079	strong		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		C	87588198	T	C	87588198	3	2	22	1	0	0	0	0	1	0	0	0	3601	1783	62	2	169	2	CNGB3	8	87588198	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29352	87588198	58775824	4830	9938										
CNGB3	54714	hgsc.bcm.edu	37	chr8	87588248	87588248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttcctttatctttatcTtcattttcttttcctttatc	0	11	5	0	rs3735970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87588248T>C	ENST00000320005.5	-	18	2261	c.2214A>G	c.(2212-2214)gaA>gaG	p.E738E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	738					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TATCTTTAtcttcattttctt	0.363													T|||	412	0.0822684	0.0696	0.085	5008	,	,		18686	0.1022		0.0885	False		,,,				2504	0.0706				p.E738E		Atlas-SNP	.											.	CNGB3	176	.	0			c.A2214G						PASS	.	T		302,4104	146.1+/-180.8	11,280,1912	199	202	201		2214	2.8	0.2	8	dbSNP_107	201	718,7882	162.7+/-215.4	32,654,3614	no	coding-synonymous	CNGB3	NM_019098.4		43,934,5526	CC,CT,TT		8.3488,6.8543,7.8425		738/810	87588248	1020,11986	2203	4300	6503	SO:0001819	synonymous_variant	54714	exon18			TTTATCTTCATTT	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2214A>G	8.37:g.87588248T>C		Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	304	165	0.542763	NM_019098	C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	CCDS6244.1																																																																																			T|0.918;C|0.082	0.082	strong		0.363	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		C	87588248	T	C	87588248	2	2	22	1	0	0	0	0	0	0	0	1	3601	1606	56	3		3	CNGB3	8	87588248	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	50	87588248	58775774	4831	9939										
CNGB3	54714	hgsc.bcm.edu	37	chr8	87680282	87680282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgtttggaagtttaattCgctttaagtactctgttaaa	8	5	1	0	rs16916632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:87680282C>T	ENST00000320005.5	-	5	655	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	203			R -> Q (in ACHM3; unknown pathological significance; dbSNP:rs16916632). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGTTTAATTCGCTTTAAGTA	0.398													C|||	278	0.0555112	0.1952	0.0101	5008	,	,		14978	0.003		0.0	False		,,,				2504	0.0102				p.R203Q		Atlas-SNP	.											.	CNGB3	176	.	0			c.G608A						PASS	.	C	GLN/ARG	679,3727	286.0+/-278.5	46,587,1570	238	228	231		608	-6.8	0	8	dbSNP_123	231	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CNGB3	NM_019098.4	43	46,589,5868	TT,TC,CC		0.0233,15.4108,5.236	benign	203/810	87680282	681,12325	2203	4300	6503	SO:0001583	missense	54714	exon5			TTAATTCGCTTTA	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.608G>A	8.37:g.87680282C>T	ENSP00000316605:p.Arg203Gln	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	185	86	0.464865	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	73	0.033424908424908424	72	0.14634146341463414	1	0.0027624309392265192	0	0.0	0	0.0	C	12.18	1.862010	0.32884	0.154108	2.33E-4	ENSG00000170289	ENST00000320005	D	0.97016	-4.21	6.1	-6.81	0.01704	.	1.625600	0.03560	N	0.226891	T	0.07369	0.0186	L	0.40543	1.245	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.68375	-0.5425	9	0.23891	T	0.37	.	13.0899	0.59162	0.1009:0.116:0.0:0.7831	rs16916632;rs52789907;rs16916632	203;203	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	203	ENSP00000316605:R203Q	ENSP00000316605:R203Q	R	-	2	0	CNGB3	87749398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.590000	0.05760	-1.332000	0.02249	-0.143000	0.13931	CGA	C|0.951;T|0.049	0.049	strong		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		T	87680282	C	T	87680282	3	4	22	1	0	0	0	0	1	0	0	0	3601	884	31	1	1877	1	CNGB3	8	87680282	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92034	87680282	58683740	4832	9940										
DCAF4L2	138009	hgsc.bcm.edu	37	chr8	88885256	88885256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgcacgggtaggtaggcgGagttattcacatgaccttcg	13	9	1	1	rs146716352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:88885256G>A	ENST00000319675.3	-	1	1040	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	315										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGGTAGGCGGAGTTATTCAC	0.542													G|||	11	0.00219649	0.0083	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.0				p.S315F		Atlas-SNP	.											.	DCAF4L2	187	.	0			c.C944T						PASS	.	G	PHE/SER	45,4361	46.7+/-81.2	0,45,2158	108	102	104		944	0.1	0	8	dbSNP_134	104	0,8600		0,0,4300	yes	missense	DCAF4L2	NM_152418.3	155	0,45,6458	AA,AG,GG		0.0,1.0213,0.346	benign	315/396	88885256	45,12961	2203	4300	6503	SO:0001583	missense	138009	exon1			TAGGCGGAGTTAT	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.944C>T	8.37:g.88885256G>A	ENSP00000316496:p.Ser315Phe	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	185	87	0.47027	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.00	2.405976	0.42715	0.010213	0.0	ENSG00000176566	ENST00000319675	T	0.22945	1.93	1.39	0.0752	0.14398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.113194	0.64402	D	0.000008	T	0.07773	0.0195	N	0.14661	0.345	0.22096	N	0.999368	B	0.25521	0.128	B	0.25614	0.062	T	0.24548	-1.0157	10	0.22706	T	0.39	.	5.3547	0.16055	0.0:0.0:0.3197:0.6803	.	315	Q8NA75	DC4L2_HUMAN	F	315	ENSP00000316496:S315F	ENSP00000316496:S315F	S	-	2	0	DCAF4L2	88954372	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	2.530000	0.45641	-0.175000	0.10725	-0.518000	0.04402	TCC	G|0.997;A|0.003	0.003	strong		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88885256	G	A	88885256	3	1	22	1	0	0	0	0	1	0	0	0	4272	1174	41	2	247	2	DCAF4L2	8	88885256	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1204974	88885256	57478766	4833	9941										
DCAF4L2	138009	hgsc.bcm.edu	37	chr8	88886059	88886059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagcttacacgcagctcGcgagctatacggcaatagtt	10	11	0	0	rs142584363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:88886059G>A	ENST00000319675.3	-	1	237	c.141C>T	c.(139-141)cgC>cgT	p.R47R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	47										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CACGCAGCTCGCGAGCTATAC	0.498													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20270	0.0		0.0	False		,,,				2504	0.0				p.R47R		Atlas-SNP	.											DCAF4L2,NS,carcinoma,-1,2	DCAF4L2	187	2	0			c.C141T						scavenged	.	G		32,4374	36.8+/-68.6	0,32,2171	101	91	94		141	-3.8	0	8	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	DCAF4L2	NM_152418.3		0,32,6471	AA,AG,GG		0.0,0.7263,0.246		47/396	88886059	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	138009	exon1			CAGCTCGCGAGCT	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.141C>T	8.37:g.88886059G>A		Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	283	3	0.0106007	NM_152418		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																			G|0.998;A|0.002	0.002	strong		0.498	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88886059	G	A	88886059	2	1	22	1	0	0	0	0	0	0	0	1	4272	1074	38	1		1	DCAF4L2	8	88886059	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	803	88886059	57477963	4834	9942										
TMEM64	169200	hgsc.bcm.edu	37	chr8	91637929	91637929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgattccacctccagaaaaTgttagggtcctcttgttgta	8	9	1	2	rs75193995	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:91637929T>C	ENST00000458549.2	-	3	1290	c.1113A>G	c.(1111-1113)acA>acG	p.T371T	TMEM64_ENST00000519519.1_Silent_p.T110T|TMEM64_ENST00000418210.2_Silent_p.T319T	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	371					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CTCCAGAAAATGTTAGGGTCC	0.408													T|||	27	0.00539137	0.0197	0.0014	5008	,	,		16021	0.0		0.0	False		,,,				2504	0.0				p.T371T		Atlas-SNP	.											.	TMEM64	31	.	0			c.A1113G						PASS	.	T	,	60,4346	57.4+/-93.9	2,56,2145	101	92	95		1113,957	-2.3	1	8	dbSNP_132	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMEM64	NM_001008495.3,NM_001146273.1	,	2,57,6444	CC,CT,TT		0.0116,1.3618,0.469	,	371/381,319/329	91637929	61,12945	2203	4300	6503	SO:0001819	synonymous_variant	169200	exon3			AGAAAATGTTAGG	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1113A>G	8.37:g.91637929T>C		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	174	77	0.442529	NM_001008495	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	CCDS34920.2																																																																																			T|0.995;C|0.005	0.005	strong		0.408	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		C	91637929	T	C	91637929	2	2	22	1	0	0	0	0	0	0	0	1	16190	1451	51	2		2	TMEM64	8	91637929	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2751870	91637929	54726093	4835	9943										
TMEM64	169200	hgsc.bcm.edu	37	chr8	91638019	91638019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagttccatttcacaagcTacaatagctgcattcaattc	4	11	3	0	rs61741096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:91638019T>C	ENST00000458549.2	-	3	1200	c.1023A>G	c.(1021-1023)gtA>gtG	p.V341V	TMEM64_ENST00000519519.1_Silent_p.V80V|TMEM64_ENST00000418210.2_Silent_p.V289V	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	341					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTTCACAAGCTACAATAGCTG	0.353													T|||	24	0.00479233	0.0174	0.0	5008	,	,		17444	0.0		0.001	False		,,,				2504	0.0				p.V341V		Atlas-SNP	.											.	TMEM64	31	.	0			c.A1023G						PASS	.	T	,	57,4349	52.9+/-88.7	0,57,2146	95	87	89		1023,867	0.2	1	8	dbSNP_129	89	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TMEM64	NM_001008495.3,NM_001146273.1	,	0,58,6445	CC,CT,TT		0.0116,1.2937,0.4459	,	341/381,289/329	91638019	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	169200	exon3			ACAAGCTACAATA	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1023A>G	8.37:g.91638019T>C		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	151	68	0.450331	NM_001008495	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	CCDS34920.2																																																																																			T|0.996;C|0.004	0.004	strong		0.353	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		C	91638019	T	C	91638019	2	2	22	1	0	0	0	0	0	0	0	1	16190	1509	53	3		3	TMEM64	8	91638019	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	90	91638019	54726003	4836	9944										
RBM12B	389677	hgsc.bcm.edu	37	chr8	94747893	94747895	+	In_Frame_Del	DEL	CTC	CTC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggagaatgttcttcagatCtcctaagaacgtcaccctcc					rs533252158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:94747893_94747895delCTC	ENST00000399300.2	-	3	957_959	c.744_746delGAG	c.(742-747)aggaga>aga	p.248_249RR>R	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_In_Frame_Del_p.248_249RR>R|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	248							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAACGT	0.399														7	0.00139776	0.0053	0.0	5008	,	,		20603	0.0		0.0	False		,,,				2504	0.0				p.249_249del		Pindel	.											.	RBM12B	78	.	0			c.745_747del						PASS	.			18,3614		1,16,1799						1.5	0.9			136	4,7904		2,0,3952	no	coding	RBM12B	NM_203390.2		3,16,5751	A1A1,A1R,RR		0.0506,0.4956,0.1906				22,11518				SO:0001651	inframe_deletion	389677	exon3			.		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.744_746delGAG	8.37:g.94747893_94747895delCTC	ENSP00000382239:p.Arg249del	Somatic	151	.	.		WXS	Illumina HiSeq	Phase_I	134	45	0.336	NM_203390	A8MYB5	In_Frame_Del	DEL	ENST00000399300.2	37	CCDS43755.1																																																																																			.	.	none		0.399	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		-	94747895	CTC	-	94747893	7	5	22	1	0	1	0	1	0	0	0	0	13114	913	32	0	2263	0	RBM12B	8	94747893	In_Frame_Del	DEL	CTC	TCGA-G8-6324-01A-11D-2210-10	3109874	94747893	51616129	4837	9945										
PDP1	54704	hgsc.bcm.edu	37	chr8	94935623	94935623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgcatcaccaacagccaAtagctgttggtggctacaag	10	11	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:94935623A>G	ENST00000297598.4	+	2	1605	c.1336A>G	c.(1336-1338)Ata>Gta	p.I446V	PDP1_ENST00000396200.3_Missense_Mutation_p.I471V|PDP1_ENST00000520728.1_Missense_Mutation_p.I446V|PDP1_ENST00000517764.1_Missense_Mutation_p.I446V	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	446					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCAACAGCCAATAGCTGTTGG	0.493																																					p.I471V		Atlas-SNP	.											PDP1,caecum,carcinoma,-2,1	PDP1	97	1	0			c.A1411G						PASS	.						80	80	80					8																	94935623		2203	4300	6503	SO:0001583	missense	54704	exon3			CAGCCAATAGCTG	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1336A>G	8.37:g.94935623A>G	ENSP00000297598:p.Ile446Val	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	221	117	0.529412	NM_001161780	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	A	5.314	0.243239	0.10077	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.41065	1.03;1.03;1.01;1.03	6.03	6.03	0.97812	Protein phosphatase 2C-like (3);	0.127835	0.64402	D	0.000016	T	0.16896	0.0406	N	0.02247	-0.625	0.42964	D	0.994412	B;B	0.12013	0.005;0.001	B;B	0.10450	0.005;0.005	T	0.18871	-1.0323	10	0.02654	T	1	-7.6316	12.4101	0.55461	0.86:0.14:0.0:0.0	.	497;446	B4DYX8;Q9P0J1	.;PDP1_HUMAN	V	446;446;471;446	ENSP00000297598:I446V;ENSP00000428317:I446V;ENSP00000379503:I471V;ENSP00000430380:I446V	ENSP00000297598:I446V	I	+	1	0	PDP1	95004799	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	4.348000	0.59379	2.308000	0.77769	0.533000	0.62120	ATA	.	.	none		0.493	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		G	94935623	A	G	94935623	3	3	22	1	0	0	0	0	1	0	0	0	11685	101	4	2	1519	2	PDP1	8	94935623	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	187730	94935623	51428399	4838	9946										
DPY19L4	286148	hgsc.bcm.edu	37	chr8	95746883	95746883	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatttcaacgctttgcaaaGattttcattggctgtcttgc	7	8	3	1	rs113391412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:95746883G>A	ENST00000414645.2	+	3	252	c.153G>A	c.(151-153)aaG>aaA	p.K51K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	51						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GCTTTGCAAAGATTTTCATTG	0.348													G|||	49	0.00978435	0.0363	0.0014	5008	,	,		19614	0.0		0.0	False		,,,				2504	0.0				p.K51K		Atlas-SNP	.											.	DPY19L4	60	.	0			c.G153A						PASS	.	G		136,4270	93.9+/-132.6	1,134,2068	89	84	85		153	4.2	1	8	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous	DPY19L4	NM_181787.2		1,134,6368	AA,AG,GG		0.0,3.0867,1.0457		51/724	95746883	136,12870	2203	4300	6503	SO:0001819	synonymous_variant	286148	exon3			TGCAAAGATTTTC		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.153G>A	8.37:g.95746883G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	114	67	0.587719	NM_181787	Q6ZW32|Q6ZW42|Q7Z329	Silent	SNP	ENST00000414645.2	37	CCDS34924.1																																																																																			G|0.988;A|0.012	0.012	strong		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		A	95746883	G	A	95746883	2	1	22	1	0	0	0	0	0	0	0	1	4743	933	33	2		2	DPY19L4	8	95746883	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	811260	95746883	50617139	4839	9947										
TP53INP1	94241	hgsc.bcm.edu	37	chr8	95942773	95942773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgcttgacttgccgaggGtggcaatccctggtaagatt	13	8	0	2	rs77630257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:95942773G>A	ENST00000342697.4	-	4	1064	c.657C>T	c.(655-657)caC>caT	p.H219H	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.H164H|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	219					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CTTGCCGAGGGTGGCAATCCC	0.473													G|||	42	0.00838658	0.0303	0.0029	5008	,	,		19735	0.0		0.0	False		,,,				2504	0.0				p.H219H		Atlas-SNP	.											.	TP53INP1	22	.	0			c.C657T						PASS	.	G	,	125,4281	92.5+/-131.2	1,123,2079	205	211	209		,657	5.2	1	8	dbSNP_132	209	0,8600		0,0,4300	no	utr-3,coding-synonymous	TP53INP1	NM_001135733.1,NM_033285.3	,	1,123,6379	AA,AG,GG		0.0,2.837,0.9611	,	,219/241	95942773	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	94241	exon4			CCGAGGGTGGCAA	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.657C>T	8.37:g.95942773G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	201	82	0.40796	NM_033285	B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	CCDS6265.1																																																																																			A|0.010;G|0.990	0.010	strong		0.473	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			A	95942773	G	A	95942773	2	1	22	1	0	0	0	0	0	0	0	1	16385	1252	44	2		2	TP53INP1	8	95942773	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	195890	95942773	50421249	4840	9948										
MTERFD1	51001	hgsc.bcm.edu	37	chr8	97263180	97263180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaaattgcatgattttTtgtcaggaatgctcccagtt	9	6	1	2	rs112357919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:97263180T>G	ENST00000287025.3	-	4	729	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	MTERFD1_ENST00000523821.1_Missense_Mutation_p.K211Q|MTERFD1_ENST00000522822.1_Missense_Mutation_p.K90Q|MTERFD1_ENST00000524341.1_Missense_Mutation_p.K21Q	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		211					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GCATGATTTTTTGTCAGGAAT	0.363													T|||	215	0.0429313	0.1566	0.0101	5008	,	,		12111	0.0		0.001	False		,,,				2504	0.0				p.K211Q		Atlas-SNP	.											.	MTERFD1	50	.	0			c.A631C						PASS	.	T	GLN/LYS	602,3804	263.1+/-265.3	36,530,1637	113	116	115		631	6	1	8	dbSNP_132	115	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MTERFD1	NM_015942.3	53	36,533,5934	GG,GT,TT		0.0349,13.6632,4.6517	probably-damaging	211/418	97263180	605,12401	2203	4300	6503	SO:0001583	missense	51001	exon4			GATTTTTTGTCAG																												ENST00000287025.3:c.631A>C	8.37:g.97263180T>G	ENSP00000287025:p.Lys211Gln	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	163	82	0.503067	NM_015942	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	79	0.036172161172161175	76	0.15447154471544716	3	0.008287292817679558	0	0.0	0	0.0	T	22.3	4.273758	0.80580	0.136632	3.49E-4	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.17213	2.73;2.73;2.29;2.73	5.98	5.98	0.97165	.	0.191366	0.51477	D	0.000091	T	0.00210	0.0006	M	0.69823	2.125	0.20821	P	0.999846152	D;D	0.65815	0.995;0.995	P;P	0.58820	0.846;0.799	T	0.01298	-1.1392	9	0.33940	T	0.23	-9.9875	15.0407	0.71788	0.0:0.0:0.0:1.0	.	211;211	E5RIK9;Q96E29	.;MTER1_HUMAN	Q	211;90;21;211	ENSP00000429400:K211Q;ENSP00000430138:K90Q;ENSP00000429267:K21Q;ENSP00000287025:K211Q	ENSP00000287025:K211Q	K	-	1	0	MTERFD1	97332356	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	4.381000	0.59587	2.289000	0.77006	0.482000	0.46254	AAA	T|0.958;G|0.042	0.042	strong		0.363	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			G	97263180	T	G	97263180	3	3	22	1	0	0	0	0	1	0	0	0	9919	1850	64	5	642	5	MTERFD1	8	97263180	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1320407	97263180	49100842	4841	9949										
TSPYL5	85453	hgsc.bcm.edu	37	chr8	98289714	98289714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctgttcccacgaagacaGtgtctgcggccaggcgctcc	12	16	1	1	rs2635164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:98289714G>C	ENST00000322128.3	-	1	462	c.359C>G	c.(358-360)aCt>aGt	p.T120S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	120			T -> S (in dbSNP:rs2635164).		cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CACGAAGACAGTGTCTGCGGC	0.721													G|||	1178	0.235224	0.5129	0.1787	5008	,	,		12121	0.0933		0.1372	False		,,,				2504	0.1472				p.T120S		Atlas-SNP	.											.	TSPYL5	48	.	0			c.C359G						PASS	.	G	SER/THR	1792,2522		386,1020,751	10	12	11		359	3.3	0.6	8	dbSNP_100	11	1062,7310		85,892,3209	yes	missense	TSPYL5	NM_033512.2	58	471,1912,3960	CC,CG,GG		12.6851,41.5392,22.4972	possibly-damaging	120/418	98289714	2854,9832	2157	4186	6343	SO:0001583	missense	85453	exon1			AAGACAGTGTCTG	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.359C>G	8.37:g.98289714G>C	ENSP00000322802:p.Thr120Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_033512	B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	CCDS34927.1	445	0.20375457875457875	228	0.4634146341463415	66	0.18232044198895028	45	0.07867132867132867	106	0.13984168865435356	G	5.440	0.266334	0.10294	0.415392	0.126851	ENSG00000180543	ENST00000322128	T	0.12774	2.65	4.16	3.27	0.37495	.	0.252185	0.20796	N	0.085534	T	0.00012	0.0000	N	0.00926	-1.1	0.45194	P	0.001794999999999991	P	0.37061	0.58	B	0.35114	0.196	T	0.30650	-0.9971	9	0.02654	T	1	-2.746	8.3789	0.32459	0.1076:0.0:0.8924:0.0	rs2635164	120	Q86VY4	TSYL5_HUMAN	S	120	ENSP00000322802:T120S	ENSP00000322802:T120S	T	-	2	0	TSPYL5	98358890	0.973000	0.33851	0.646000	0.29493	0.871000	0.50021	1.939000	0.40213	1.298000	0.44778	0.650000	0.86243	ACT	G|0.810;C|0.190	0.190	strong		0.721	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		C	98289714	G	C	98289714	3	2	22	1	0	0	0	0	1	0	0	0	16659	1029	36	4	898	4	TSPYL5	8	98289714	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1026534	98289714	48074308	4842	9950										
TSPYL5	85453	hgsc.bcm.edu	37	chr8	98289922	98289922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgccagcctgcacctgtgCcgcctgggtgtcttccccga	12	18	1	0	rs200123082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:98289922C>T	ENST00000322128.3	-	1	254	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	51					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGCACCTGTGCCGCCTGGGTG	0.746													C|||	37	0.00738818	0.0257	0.0043	5008	,	,		10609	0.0		0.0	False		,,,				2504	0.0				p.A51T		Atlas-SNP	.											.	TSPYL5	48	.	0			c.G151A						PASS	.	C	THR/ALA	59,4045		1,57,1994	5	7	6		151	1.2	0	8		6	2,8036		0,2,4017	yes	missense	TSPYL5	NM_033512.2	58	1,59,6011	TT,TC,CC		0.0249,1.4376,0.5024	possibly-damaging	51/418	98289922	61,12081	2052	4019	6071	SO:0001583	missense	85453	exon1			CCTGTGCCGCCTG	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.151G>A	8.37:g.98289922C>T	ENSP00000322802:p.Ala51Thr	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	32	18	0.5625	NM_033512	B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	CCDS34927.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	2.842	-0.240359	0.05944	0.014376	2.49E-4	ENSG00000180543	ENST00000322128	T	0.23754	1.89	4.03	1.24	0.21308	.	0.260319	0.20293	N	0.095194	T	0.04998	0.0134	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	10	0.02654	T	1	-1.04	3.5525	0.07851	0.1976:0.5914:0.0:0.211	.	51	Q86VY4	TSYL5_HUMAN	T	51	ENSP00000322802:A51T	ENSP00000322802:A51T	A	-	1	0	TSPYL5	98359098	0.996000	0.38824	0.014000	0.15608	0.014000	0.08584	2.417000	0.44653	0.261000	0.21753	-0.258000	0.10820	GCA	C|0.994;T|0.006	0.006	strong		0.746	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		T	98289922	C	T	98289922	3	4	22	1	0	0	0	0	1	0	0	0	16659	739	26	2	1106	2	TSPYL5	8	98289922	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	208	98289922	48074100	4843	9951										
TSPYL5	85453	hgsc.bcm.edu	37	chr8	98289986	98289986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcgcgcggggcgtcgtcCggagcagggcggactcgggc	22	12	0	0	rs28669903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:98289986C>T	ENST00000322128.3	-	1	190	c.87G>A	c.(85-87)ccG>ccA	p.P29P		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	29					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGGCGTCGTCCGGAGCAGGGC	0.721													C|||	2924	0.583866	0.385	0.6599	5008	,	,		12258	0.6339		0.6312	False		,,,				2504	0.6984				p.P29P		Atlas-SNP	.											TSPYL5,NS,carcinoma,-2,1	TSPYL5	48	1	0			c.G87A						PASS	.	C		1848,2418		440,968,725	9	10	9		87	-7.6	0	8	dbSNP_125	9	5578,2722		1923,1732,495	no	coding-synonymous	TSPYL5	NM_033512.2		2363,2700,1220	TT,TC,CC		32.7952,43.3193,40.904		29/418	98289986	7426,5140	2133	4150	6283	SO:0001819	synonymous_variant	85453	exon1			GTCGTCCGGAGCA	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.87G>A	8.37:g.98289986C>T		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	36	19	0.527778	NM_033512	B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	CCDS34927.1																																																																																			C|0.406;T|0.594	0.594	strong		0.721	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		T	98289986	C	T	98289986	2	4	22	1	0	0	0	0	0	0	0	1	16659	639	23	1		1	TSPYL5	8	98289986	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64	98289986	48074036	4844	9952										
MATN2	4147	hgsc.bcm.edu	37	chr8	98991223	98991223	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgctcttaacccagataaAaaaacgtgcacaagtaagtt	6	8	1	1	rs1869608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:98991223A>G	ENST00000520016.1	+	5	1192	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	MATN2_ENST00000254898.5_Silent_p.K356K|MATN2_ENST00000522025.2_Silent_p.K72K|MATN2_ENST00000524308.1_Silent_p.K356K|MATN2_ENST00000521689.1_Silent_p.K356K			O00339	MATN2_HUMAN	matrilin 2	356	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		K -> E (in dbSNP:rs1869609). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACCCAGATAAAAAAACGTGCA	0.433													A|||	1240	0.247604	0.3343	0.3156	5008	,	,		20904	0.1667		0.1322	False		,,,				2504	0.2843				p.K356K		Atlas-SNP	.											.	MATN2	165	.	0			c.A1068G						PASS	.	A	,	1136,2982		161,814,1084	109	104	106		1068,1068	-1.5	0.1	8	dbSNP_92	106	1402,7024		118,1166,2929	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	279,1980,4013	GG,GA,AA		16.639,27.5862,20.2328	,	356/957,356/938	98991223	2538,10006	2059	4213	6272	SO:0001819	synonymous_variant	4147	exon6			AGATAAAAAAACG	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1068A>G	8.37:g.98991223A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	493	0.22573260073260074	185	0.37601626016260165	98	0.27071823204419887	100	0.17482517482517482	110	0.14511873350923482	A	5.448	0.267698	0.10294	0.275862	0.16639	ENSG00000132561	ENST00000518154;ENST00000521041	D;D	0.96491	-4.03;-4.03	5.49	-1.46	0.08800	.	0.398494	0.23838	N	0.044079	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999800825	.	.	.	.	.	.	T	0.00538	-1.1682	6	0.31617	T	0.26	-2.6418	10.083	0.42401	0.6016:0.0:0.3984:0.0	rs1869608;rs1869608	.	.	.	E	139;111	ENSP00000429622:K139E;ENSP00000430396:K111E	ENSP00000429622:K139E	K	+	1	0	MATN2	99060399	0.023000	0.18921	0.136000	0.22124	0.578000	0.36192	0.039000	0.13884	-0.503000	0.06586	0.533000	0.62120	AAA	A|0.775;G|0.225	0.225	strong		0.433	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			G	98991223	A	G	98991223	2	3	22	1	0	0	0	0	0	0	0	1	9334	11	1	2		2	MATN2	8	98991223	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	701237	98991223	47372799	4845	9953										
MATN2	4147	hgsc.bcm.edu	37	chr8	99028811	99028811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccacggttgtgaacattcGtgtgtaagcagtgaagattc	12	7	0	3	rs79255841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:99028811G>A	ENST00000520016.1	+	10	1741	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	MATN2_ENST00000254898.5_Silent_p.S539S|MATN2_ENST00000522025.2_Silent_p.S255S|MATN2_ENST00000524308.1_Silent_p.S498S|MATN2_ENST00000521689.1_Silent_p.S539S			O00339	MATN2_HUMAN	matrilin 2	539	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GTGAACATTCGTGTGTAAGCA	0.418													G|||	139	0.0277556	0.0953	0.0187	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.0				p.S539S		Atlas-SNP	.											MATN2_ENST00000520016,NS,carcinoma,+1,2	MATN2	165	2	0			c.G1617A						PASS	.	G	,	355,3435		11,333,1551	108	102	104		1617,1617	-11.3	0	8	dbSNP_132	104	4,8248		0,4,4122	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	11,337,5673	AA,AG,GG		0.0485,9.3668,2.9812	,	539/957,539/938	99028811	359,11683	1895	4126	6021	SO:0001819	synonymous_variant	4147	exon11			ACATTCGTGTGTA	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1617G>A	8.37:g.99028811G>A		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	204	104	0.509804	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	41	0.018772893772893772	35	0.07113821138211382	6	0.016574585635359115	0	0.0	0	0.0	G	0.127	-1.118394	0.01785	0.093668	4.85E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.01156	0.0038	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-0.062	1.117	0.01716	0.232:0.3145:0.2304:0.2231	.	.	.	.	M	322;14	.	.	V	+	1	0	MATN2	99097987	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	-6.461000	0.00065	-2.310000	0.00650	-1.185000	0.01705	GTG	G|0.976;A|0.024	0.024	strong		0.418	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			A	99028811	G	A	99028811	2	1	22	1	0	0	0	0	0	0	0	1	9334	1132	40	1		1	MATN2	8	99028811	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37588	99028811	47335211	4846	9954										
NIPAL2	79815	hgsc.bcm.edu	37	chr8	99205612	99205612	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacatgaagcattcactcaCctccaagcctttctctctgg	5	15	5	1	rs3735887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:99205612C>T	ENST00000341166.3	-	11	1323		c.e11+1		NIPAL2_ENST00000430223.2_Intron|NIPAL2_ENST00000520545.1_Intron|RNU6-914P_ENST00000516749.1_RNA	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2							integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CATTCACTCACCTCCAAGCCT	0.453													T|||	2918	0.582668	0.5461	0.6427	5008	,	,		18555	0.5893		0.5	False		,,,				2504	0.6677				.		Atlas-SNP	.											.	NIPAL2	23	.	0			c.1067+1G>A						PASS	.	T		2289,2117	576.4+/-384.2	595,1099,509	195	188	191			3.7	0	8	dbSNP_107	191	4379,4221	572.2+/-389.7	1103,2173,1024	yes	splice-5	NIPAL2	NM_024759.1		1698,3272,1533	TT,TC,CC		49.0814,48.0481,48.7314			99205612	6668,6338	2203	4300	6503	SO:0001630	splice_region_variant	79815	exon12			CACTCACCTCCAA	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.1067+1G>A	8.37:g.99205612C>T		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	197	197	1	NM_024759	A2RTY8	Splice_Site	SNP	ENST00000341166.3	37	CCDS6278.1	1225	0.5608974358974359	273	0.5548780487804879	227	0.6270718232044199	341	0.5961538461538461	384	0.5065963060686016	T	10.44	1.351666	0.24512	0.519519	0.509186	ENSG00000104361	ENST00000341166	.	.	.	4.8	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.44168	P	0.003025999999999973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7832	0.23659	0.0:0.193:0.0:0.807	rs3735887;rs17286348;rs3735887	.	.	.	.	-1	.	.	.	-	.	.	NIPAL2	99274788	0.017000	0.18338	0.004000	0.12327	0.010000	0.07245	1.145000	0.31577	0.402000	0.25451	-0.360000	0.07572	.	C|0.467;T|0.533	0.533	strong		0.453	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759	Intron	T	99205612	C	T	99205612	5	4	22	1	0	0	0	0	0	0	1	0	10425	521	18	2	46	2	NIPAL2	8	99205612	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176801	99205612	47158410	4847	9955										
SNX31	169166	hgsc.bcm.edu	37	chr8	101586133	101586133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcccaaaaacgcagtcaTctttagctatcttaatcttg	5	10	4	0	rs2022923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101586133T>C	ENST00000311812.2	-	14	1433	c.1283A>G	c.(1282-1284)gAt>gGt	p.D428G	SNX31_ENST00000428383.2_Missense_Mutation_p.D329G	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	428			D -> G (in dbSNP:rs2022923). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AACGCAGTCATCTTTAGCTAT	0.343													T|||	2063	0.411941	0.5514	0.3689	5008	,	,		19008	0.2778		0.4364	False		,,,				2504	0.3671				p.D428G		Atlas-SNP	.											SNX31,NS,carcinoma,0,1	SNX31	66	1	0			c.A1283G						PASS	.	T	GLY/ASP	2346,2058	605.4+/-390.5	623,1100,479	128	127	127		1283	-11	0	8	dbSNP_94	127	3688,4908	527.2+/-381.1	783,2122,1393	yes	missense	SNX31	NM_152628.3	94	1406,3222,1872	CC,CT,TT		42.9037,46.7302,46.4154	benign	428/441	101586133	6034,6966	2202	4298	6500	SO:0001583	missense	169166	exon14			CAGTCATCTTTAG		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1283A>G	8.37:g.101586133T>C	ENSP00000312368:p.Asp428Gly	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	942|942	0.43131868131868134|0.43131868131868134	304|304	0.6178861788617886|0.6178861788617886	140|140	0.3867403314917127|0.3867403314917127	158|158	0.2762237762237762|0.2762237762237762	340|340	0.44854881266490765|0.44854881266490765	T|T	7.650|7.650	0.682808|0.682808	0.14907|0.14907	0.532698|0.532698	0.429037|0.429037	ENSG00000174226|ENSG00000174226	ENST00000311812;ENST00000428383|ENST00000518342	T;T|.	0.23348|.	2.24;1.91|.	5.51|5.51	-11.0|-11.0	0.00169|0.00169	.|.	1.819920|.	0.02970|.	N|.	0.144295|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02011|0.02011	-0.69|-0.69	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.36212|0.36212	-0.9757|-0.9757	9|4	0.11794|.	T|.	0.64|.	6.6358|6.6358	3.7682|3.7682	0.08630|0.08630	0.1019:0.3636:0.3892:0.1454|0.1019:0.3636:0.3892:0.1454	rs2022923;rs17845950;rs17858931;rs52797088;rs60518312;rs2022923|rs2022923;rs17845950;rs17858931;rs52797088;rs60518312;rs2022923	329;428|.	Q8N9S9-2;Q8N9S9|.	.;SNX31_HUMAN|.	G|V	428;329|36	ENSP00000312368:D428G;ENSP00000405024:D329G|.	ENSP00000312368:D428G|.	D|M	-|-	2|1	0|0	SNX31|SNX31	101655309|101655309	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.851000|0.851000	0.48451|0.48451	-0.575000|-0.575000	0.05861|0.05861	-2.690000|-2.690000	0.00404|0.00404	-0.472000|-0.472000	0.04984|0.04984	GAT|ATG	T|0.551;C|0.449	0.449	strong		0.343	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		C	101586133	T	C	101586133	3	2	22	1	0	0	0	0	1	0	0	0	14901	1435	50	2	43	2	SNX31	8	101586133	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2380521	101586133	44777889	4848	9956										
SNX31	169166	hgsc.bcm.edu	37	chr8	101608919	101608919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctggaaaacgatgtccTgggtctggctgtcaggcagg	14	9	4	0	rs2248609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101608919T>C	ENST00000311812.2	-	10	1076	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	SNX31_ENST00000428383.2_Missense_Mutation_p.Q210R|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	309			Q -> R (in dbSNP:rs2248609).		protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AACGATGTCCTGGGTCTGGCT	0.498													T|||	1922	0.383786	0.5416	0.4611	5008	,	,		21650	0.1835		0.3539	False		,,,				2504	0.3528				p.Q309R		Atlas-SNP	.											.	SNX31	66	.	0			c.A926G						PASS	.	T	ARG/GLN	2351,2055	608.4+/-391.2	599,1153,451	117	115	116		926	0.9	0.6	8	dbSNP_100	116	2944,5656	457.9+/-364.5	524,1896,1880	yes	missense	SNX31	NM_152628.3	43	1123,3049,2331	CC,CT,TT		34.2326,46.6409,40.712	benign	309/441	101608919	5295,7711	2203	4300	6503	SO:0001583	missense	169166	exon10			ATGTCCTGGGTCT		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.926A>G	8.37:g.101608919T>C	ENSP00000312368:p.Gln309Arg	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	118	61	0.516949	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	797	0.3649267399267399	263	0.5345528455284553	162	0.44751381215469616	106	0.1853146853146853	266	0.35092348284960423	T	0.748	-0.773849	0.02951	0.533591	0.342326	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.24723	2.19;1.84	4.55	0.908	0.19326	.	0.440276	0.20934	N	0.083042	T	0.00012	0.0000	L	0.45581	1.43	0.37480	P	0.08402500000000002	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.46610	-0.9179	9	0.15066	T	0.55	-3.2851	7.7599	0.28946	0.0:0.2575:0.0:0.7425	rs2248609;rs52819632;rs61025809;rs2248609	210;309	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	R	309;210	ENSP00000312368:Q309R;ENSP00000405024:Q210R	ENSP00000312368:Q309R	Q	-	2	0	SNX31	101678095	0.991000	0.36638	0.572000	0.28498	0.048000	0.14542	0.177000	0.16801	0.005000	0.14708	0.460000	0.39030	CAG	T|0.613;C|0.387	0.387	strong		0.498	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		C	101608919	T	C	101608919	3	2	22	1	0	0	0	0	1	0	0	0	14901	1580	55	3	416	3	SNX31	8	101608919	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22786	101608919	44755103	4849	9957										
SNX31	169166	hgsc.bcm.edu	37	chr8	101648164	101648164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttggtccctcctctcatCagccatagctgtggtcattg	9	13	3	0	rs2187016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101648164C>G	ENST00000311812.2	-	3	367	c.217G>C	c.(217-219)Gat>Cat	p.D73H		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.		D -> H (in dbSNP:rs2187016). {ECO:0000269|PubMed:14702039}.		protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTCCTCTCATCAGCCATAGCT	0.418													C|||	1659	0.33127	0.5234	0.2795	5008	,	,		18466	0.2579		0.165	False		,,,				2504	0.3548				p.D73H		Atlas-SNP	.											.	SNX31	66	.	0			c.G217C						PASS	.	C	HIS/ASP	2006,2400	561.8+/-380.8	458,1090,655	104	97	99		217	2	1	8	dbSNP_96	99	1862,6738	332.8+/-320.3	210,1442,2648	yes	missense	SNX31	NM_152628.3	81	668,2532,3303	GG,GC,CC		21.6512,45.5288,29.7401	possibly-damaging	73/441	101648164	3868,9138	2203	4300	6503	SO:0001583	missense	169166	exon3			TCTCATCAGCCAT		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.217G>C	8.37:g.101648164C>G	ENSP00000312368:p.Asp73His	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	111	43	0.387387	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	591	0.2706043956043956	238	0.483739837398374	101	0.27900552486187846	123	0.21503496503496503	129	0.17018469656992086	C	15.29	2.788555	0.49997	0.455288	0.216512	ENSG00000174226	ENST00000311812;ENST00000520352;ENST00000520661;ENST00000520743	T;T;T;T	0.35789	1.53;1.53;1.53;1.29	5.72	1.95	0.26073	Phox homologous domain (5);	0.559257	0.18809	N	0.130569	T	0.00012	0.0000	L	0.43923	1.385	0.09310	P	0.9999999999941089	P	0.43542	0.81	P	0.53006	0.715	T	0.48514	-0.9029	9	0.66056	D	0.02	-0.032	8.8661	0.35286	0.0:0.6339:0.0:0.3661	rs2187016;rs52823880;rs58315921;rs2187016	73	Q8N9S9	SNX31_HUMAN	H	73;7;74;99	ENSP00000312368:D73H;ENSP00000428210:D7H;ENSP00000428855:D74H;ENSP00000428262:D99H	ENSP00000312368:D73H	D	-	1	0	SNX31	101717340	0.659000	0.27411	0.977000	0.42913	0.892000	0.51952	0.190000	0.17057	0.079000	0.16929	-0.266000	0.10368	GAT	C|0.720;G|0.280	0.280	strong		0.418	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		G	101648164	C	G	101648164	3	3	22	1	0	0	0	0	1	0	0	0	14901	826	29	4	1153	4	SNX31	8	101648164	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39245	101648164	44715858	4850	9958										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101718932	101718932	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgctgaggattgcgaaCtcctgcagcatatttatact	9	8	0	1	rs62513920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101718932C>G	ENST00000318607.5	-	11	2677	c.1549G>C	c.(1549-1551)Gtt>Ctt	p.V517L	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.V472L|PABPC1_ENST00000522387.1_Missense_Mutation_p.V485L|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	517					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGATTGCGAACTCCTGCAGCA	0.448																																					p.V517L		Atlas-SNP	.											.	PABPC1	76	.	0			c.G1549C						PASS	.						85	81	82					8																	101718932		2203	4300	6503	SO:0001583	missense	26986	exon11			TGCGAACTCCTGC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1549G>C	8.37:g.101718932C>G	ENSP00000313007:p.Val517Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	258	72	0.27907	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	32|32|32	5.122361|5.122361|5.122361	0.94429|0.94429|0.94429	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000519596|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	.|.|T;T;T;T;T	.|.|0.41065	.|.|1.01;1.01;1.01;1.01;1.01	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	.|.|Polyadenylate-binding protein/Hyperplastic disc protein (1);	.|.|0.099482	.|.|0.42294	.|.|D	.|.|0.000734	T|T|T	0.44159|0.44159|0.44159	0.1280|0.1280|0.1280	M|M|M	0.62088|0.62088|0.62088	1.915|1.915|1.915	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|B;B;B	.|.|0.02656	.|.|0.0;0.0;0.0	.|.|B;B;B	.|.|0.08055	.|.|0.003;0.003;0.001	T|T|T	0.29058|0.29058|0.29058	-1.0024|-1.0024|-1.0024	5|5|10	.|.|0.27082	.|.|T	.|.|0.32	.|.|.	19.3206|19.3206|19.3206	0.94237|0.94237|0.94237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs62513920|rs62513920|rs62513920	.|.|485;517;517	.|.|E7ERJ7;B3KT93;P11940	.|.|.;.;PABP1_HUMAN	D|T|L	49;169|254|517;472;485;26;64	.|.|ENSP00000313007:V517L;ENSP00000429594:V472L;ENSP00000429395:V485L;ENSP00000428030:V26L;ENSP00000428840:V64L	.|.|ENSP00000313007:V517L	E|S|V	-|-|-	3|2|1	2|0|0	PABPC1|PABPC1|PABPC1	101788108|101788108|101788108	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	7.233000|7.233000|7.233000	0.78125|0.78125|0.78125	2.658000|2.658000|2.658000	0.90341|0.90341|0.90341	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAG|AGT|GTT	C|0.811;G|0.188	0.188	strong		0.448	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101718932	C	G	101718932	3	3	22	1	0	0	0	0	1	0	0	0	11363	565	20	4	377	4	PABPC1	8	101718932	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70768	101718932	44645090	4851	9959										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101718965	101718965	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatactgtggaacggtgcGgacagcaggagtagctgcag					rs62513921		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101718965G>A	ENST00000318607.5	-	11	2644	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.R461C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R474C|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	506					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGAACGGTGCGGACAGCAGGA	0.438																																					p.R506C		Atlas-SNP	.											PABPC1,NS,carcinoma,+2,2	PABPC1	76	2	0			c.C1516T						PASS	.						62	58	59					8																	101718965		2203	4300	6503	SO:0001583	missense	26986	exon11			CGGTGCGGACAGC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1516C>T	8.37:g.101718965G>A	ENSP00000313007:p.Arg506Cys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	221	74	0.334842	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966636	0.53507	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.4	4.52	0.55395	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.087768	0.45606	D	0.000353	T	0.50820	0.1638	M	0.68952	2.095	0.80722	D	1	P;B;D	0.55172	0.928;0.016;0.97	P;B;P	0.52856	0.711;0.017;0.62	T	0.54214	-0.8327	10	0.62326	D	0.03	.	9.4895	0.38951	0.0721:0.0:0.7865:0.1414	rs62513921	474;506;506	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	506;461;474;15;53	ENSP00000313007:R506C;ENSP00000429594:R461C;ENSP00000429395:R474C;ENSP00000428030:R15C;ENSP00000428840:R53C	ENSP00000313007:R506C	R	-	1	0	PABPC1	101788141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.013000	0.70776	1.427000	0.47276	-0.150000	0.13652	CGC	.	.	weak		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101718965	G	A	101718965	3	1	22	1	0	0	0	0	1	0	0	0	11363	1116	39	1	410	1	PABPC1	8	101718965	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33	101718965	44645057	4852	9960	207	2								
PABPC1	26986	hgsc.bcm.edu	37	chr8	101718968	101718968	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atactgtggaacggtgcggaCagcaggagtagctgcagcgg					rs62513922		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101718968C>T	ENST00000318607.5	-	11	2641	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	PABPC1_ENST00000519004.1_Missense_Mutation_p.V460I|PABPC1_ENST00000522387.1_Missense_Mutation_p.V473I|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	505					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACGGTGCGGACAGCAGGAGTA	0.443																																					p.V505I		Atlas-SNP	.											.	PABPC1	76	.	0			c.G1513A						PASS	.						60	56	58					8																	101718968		2203	4300	6503	SO:0001583	missense	26986	exon11			TGCGGACAGCAGG	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1513G>A	8.37:g.101718968C>T	ENSP00000313007:p.Val505Ile	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	214	73	0.341121	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873827	0.91664	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.4	5.4	0.78164	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.52532	D	0.000070	T	0.44159	0.1280	M	0.63843	1.955	0.54753	D	0.999987	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.12837	0.008;0.008;0.008	T	0.30534	-0.9975	10	0.22109	T	0.4	.	19.5279	0.95213	0.0:1.0:0.0:0.0	rs62513922	473;505;505	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	I	505;460;473;14;52	ENSP00000313007:V505I;ENSP00000429594:V460I;ENSP00000429395:V473I;ENSP00000428030:V14I;ENSP00000428840:V52I	ENSP00000313007:V505I	V	-	1	0	PABPC1	101788144	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.233000	0.78125	2.706000	0.92434	0.655000	0.94253	GTC	.	.	weak		0.443	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101718968	C	T	101718968	3	4	22	1	0	0	0	0	1	0	0	0	11363	478	17	2	413	2	PABPC1	8	101718968	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	101718968	44645054	4853	9961	207	2								
PABPC1	26986	hgsc.bcm.edu	37	chr8	101719004	101719004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggctgcagctgcaggacGtggacccattgtctgtgttg	15	10	1	0	rs62513924		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101719004G>A	ENST00000318607.5	-	11	2605	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	PABPC1_ENST00000519004.1_Missense_Mutation_p.R448C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R461C|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	493					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCTGCAGGACGTGGACCCATT	0.423																																					p.R493C		Atlas-SNP	.											.	PABPC1	76	.	0			c.C1477T						PASS	.						47	45	46					8																	101719004		2203	4300	6503	SO:0001583	missense	26986	exon11			CAGGACGTGGACC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1477C>T	8.37:g.101719004G>A	ENSP00000313007:p.Arg493Cys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	138	42	0.304348	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729404	0.69074	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T	0.51574	1.52;1.45;2.5;0.7	5.3	5.3	0.74995	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.64402	D	0.000004	T	0.51092	0.1654	L	0.49513	1.565	0.80722	D	1	B;B;B	0.34399	0.452;0.452;0.452	B;B;B	0.39531	0.027;0.302;0.302	T	0.53830	-0.8383	10	0.62326	D	0.03	.	19.3206	0.94237	0.0:0.0:1.0:0.0	rs62513924	461;493;493	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	493;448;461;2;40	ENSP00000313007:R493C;ENSP00000429594:R448C;ENSP00000429395:R461C;ENSP00000428840:R40C	ENSP00000313007:R493C	R	-	1	0	PABPC1	101788180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	2.658000	0.90341	0.591000	0.81541	CGT	.	.	strong		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101719004	G	A	101719004	3	1	22	1	0	0	0	0	1	0	0	0	11363	1145	40	1	449	1	PABPC1	8	101719004	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36	101719004	44645018	4854	9962										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101719121	101719121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggattaagactcaccaacacGctgtgttgacatgactcgtg	10	10	1	3	rs79986761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101719121G>A	ENST00000318607.5	-	10	2569	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	PABPC1_ENST00000519004.1_Missense_Mutation_p.R436C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R449C|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	481					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TCACCAACACGCTGTGTTGAC	0.403																																					p.R481C		Atlas-SNP	.											.	PABPC1	76	.	0			c.C1441T						PASS	.						66	64	65					8																	101719121		2203	4300	6503	SO:0001583	missense	26986	exon10			CAACACGCTGTGT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1441C>T	8.37:g.101719121G>A	ENSP00000313007:p.Arg481Cys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	87	16	0.183908	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492858	0.64074	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	T;T;T;T	0.51071	1.56;1.49;2.54;0.72	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.55016	0.1894	M	0.76727	2.345	0.80722	D	1	P;P;B	0.45986	0.787;0.87;0.001	B;B;B	0.41860	0.205;0.368;0.001	T	0.61922	-0.6963	10	0.62326	D	0.03	.	20.0338	0.97549	0.0:0.0:1.0:0.0	.	449;481;481	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	481;436;449;28	ENSP00000313007:R481C;ENSP00000429594:R436C;ENSP00000429395:R449C;ENSP00000428840:R28C	ENSP00000313007:R481C	R	-	1	0	PABPC1	101788297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.991000	0.93514	2.816000	0.96949	0.650000	0.86243	CGT	G|0.871;A|0.129	0.129	strong		0.403	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101719121	G	A	101719121	3	1	22	1	0	0	0	0	1	0	0	0	11363	1087	38	1	489	1	PABPC1	8	101719121	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117	101719121	44644901	4855	9963										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101719138	101719138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgctgtgttgacatgactCgtggaacctgtgaagaagct	12	9	0	4	rs79940439		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101719138C>T	ENST00000318607.5	-	10	2552	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.R430Q|PABPC1_ENST00000522387.1_Missense_Mutation_p.R443Q|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	475					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGACATGACTCGTGGAACCTG	0.398																																					p.R475Q		Atlas-SNP	.											.	PABPC1	76	.	0			c.G1424A						PASS	.						79	75	76					8																	101719138		2203	4300	6503	SO:0001583	missense	26986	exon10			ATGACTCGTGGAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1424G>A	8.37:g.101719138C>T	ENSP00000313007:p.Arg475Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	22	0.244444	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.676811|4.676811	0.88445|0.88445	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.45276	.|1.71;1.67;2.73;0.9	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.128720	.|0.35378	.|N	.|0.003252	T|T	0.33904|0.33904	0.0879|0.0879	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18968	.|0.032;0.001;0.001	.|B;B;B	.|0.09377	.|0.004;0.001;0.0	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.15952	.|T	.|0.53	.|.	20.0338|20.0338	0.97549|0.97549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443;475;475	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	K|Q	8;128|475;430;443;22	.|ENSP00000313007:R475Q;ENSP00000429594:R430Q;ENSP00000429395:R443Q;ENSP00000428840:R22Q	.|ENSP00000313007:R475Q	E|R	-|-	1|2	0|0	PABPC1|PABPC1	101788314|101788314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.212000|7.212000	0.77941|0.77941	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	GAG|CGA	.	.	weak		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101719138	C	T	101719138	3	4	22	1	0	0	0	0	1	0	0	0	11363	884	31	1	506	1	PABPC1	8	101719138	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17	101719138	44644884	4856	9964										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721705	101721705	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgtgggatagctgccatGaagtaacctgaaggaggtgc	14	8	0	2	rs201017624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721705G>T	ENST00000318607.5	-	8	2355	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	PABPC1_ENST00000519004.1_Missense_Mutation_p.F364L|PABPC1_ENST00000522387.1_Missense_Mutation_p.F377L|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	409					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TAGCTGCCATGAAGTAACCTG	0.488													g|||	1288	0.257188	0.2943	0.2089	5008	,	,		21380	0.2649		0.2107	False		,,,				2504	0.2812				p.F409L		Atlas-SNP	.											.	PABPC1	76	.	0			c.C1227A						PASS	.						101	92	95					8																	101721705		2203	4300	6503	SO:0001583	missense	26986	exon8			TGCCATGAAGTAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1227C>A	8.37:g.101721705G>T	ENSP00000313007:p.Phe409Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	264	48	0.181818	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	17.00|17.00|17.00	3.276204|3.276204|3.276204	0.59649|0.59649|0.59649	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596|ENST00000517403;ENST00000519100	T;T;T|.|.	0.29142|.|.	1.67;1.58;2.65|.|.	5.37|5.37|5.37	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.61160|0.61160|.	0.2325|0.2325|.	L|L|L	0.46819|0.46819|0.46819	1.47|1.47|1.47	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	B;B;B|.|.	0.23937|.|.	0.094;0.024;0.009|.|.	B;B;B|.|.	0.19946|.|.	0.027;0.01;0.013|.|.	T|T|.	0.58747|0.58747|.	-0.7582|-0.7582|.	10|5|.	0.49607|.|.	T|.|.	0.09|.|.	.|.|.	14.6297|14.6297|14.6297	0.68647|0.68647|0.68647	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.|.	377;409;409|.|.	E7ERJ7;B3KT93;P11940|.|.	.;.;PABP1_HUMAN|.|.	L|N|X	409;409;364;377|242|62;278	ENSP00000313007:F409L;ENSP00000429594:F364L;ENSP00000429395:F377L|.|.	ENSP00000313007:F409L|.|.	F|H|S	-|-|-	3|1|2	2|0|0	PABPC1|PABPC1|PABPC1	101790881|101790881|101790881	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.998000|7.998000|7.998000	0.88491|0.88491|0.88491	1.419000|1.419000|1.419000	0.47118|0.47118|0.47118	-0.119000|-0.119000|-0.119000	0.15052|0.15052|0.15052	TTC|CAT|TCA	G|0.944;T|0.057	0.057	strong		0.488	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101721705	G	T	101721705	3	4	22	1	0	0	0	0	1	0	0	0	11363	1281	45	4	711	4	PABPC1	8	101721705	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2567	101721705	44642317	4857	9965										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721756	101721756	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttgattacagggttgggAacagctcgtacacttgccat	13	8	0	1	rs57799615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721756A>C	ENST00000318607.5	-	8	2304	c.1176T>G	c.(1174-1176)gtT>gtG	p.V392V	PABPC1_ENST00000519004.1_Silent_p.V347V|PABPC1_ENST00000522387.1_Silent_p.V360V|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	392					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAGGGTTGGGAACAGCTCGTA	0.498																																					p.V392V		Atlas-SNP	.											.	PABPC1	76	.	0			c.T1176G						PASS	.						155	135	142					8																	101721756		2203	4300	6503	SO:0001819	synonymous_variant	26986	exon8			GTTGGGAACAGCT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1176T>G	8.37:g.101721756A>C		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	391	132	0.337596	NM_002568	Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	251|251	0.11492673992673992|0.11492673992673992	138|138	0.2804878048780488|0.2804878048780488	18|18	0.049723756906077346|0.049723756906077346	33|33	0.057692307692307696|0.057692307692307696	62|62	0.08179419525065963|0.08179419525065963	C|C	10.08|10.08	1.251048|1.251048	0.22880|0.22880	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403;ENST00000519100|ENST00000519596	.|.	.|.	.|.	5.19|5.19	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03619|0.03619	-1.1019|-1.1019	4|4	.|.	.|.	.|.	.|.	5.5819|5.5819	0.17254|0.17254	0.1355:0.5308:0.2616:0.0721|0.1355:0.5308:0.2616:0.0721	rs57799615;rs61745491|rs57799615;rs61745491	.|.	.|.	.|.	C|A	45;261|225	.|.	.|.	F|S	-|-	2|1	0|0	PABPC1|PABPC1	101790932|101790932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.926000|0.926000	0.28804|0.28804	0.692000|0.692000	0.31613|0.31613	-0.121000|-0.121000	0.15023|0.15023	TTC|TCC	A|0.887;C|0.113	0.113	strong		0.498	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101721756	A	C	101721756	2	2	22	1	0	0	0	0	0	0	0	1	11363	233	9	5		5	PABPC1	8	101721756	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51	101721756	44642266	4858	9966										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721812	101721812	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttagtgaggtgagcctggcGctcttctttgcgctgagcta					rs200409148		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721812G>A	ENST00000318607.5	-	8	2248	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.R329C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R342C|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	374					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGCCTGGCGCTCTTCTTTG	0.502																																					p.R374C		Atlas-SNP	.											.	PABPC1	76	.	0			c.C1120T						PASS	.						144	123	130					8																	101721812		2203	4300	6503	SO:0001583	missense	26986	exon8			CCTGGCGCTCTTC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1120C>T	8.37:g.101721812G>A	ENSP00000313007:p.Arg374Cys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	358	131	0.365922	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.154399|5.154399	0.94686|0.94686	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.06933	.|3.24;3.24;3.24	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Nucleotide-binding, alpha-beta plait (1);	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.24122|0.24122	0.0584|0.0584	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.991;0.997;0.988	.|P;P;P	.|0.60012	.|0.641;0.867;0.852	T|T	0.00448|0.00448	-1.1733|-1.1733	5|10	.|0.87932	.|D	.|0	.|.	18.7718|18.7718	0.91894|0.91894	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;374;374	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	V|C	206|374;374;329;342	.|ENSP00000313007:R374C;ENSP00000429594:R329C;ENSP00000429395:R342C	.|ENSP00000313007:R374C	A|R	-|-	2|1	0|0	PABPC1|PABPC1	101790988|101790988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.694000|6.694000	0.74587|0.74587	2.507000|2.507000	0.84556|0.84556	0.561000|0.561000	0.74099|0.74099	GCG|CGC	.	.	weak		0.502	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721812	G	A	101721812	3	1	22	1	0	0	0	0	1	0	0	0	11363	1087	38	1	818	1	PABPC1	8	101721812	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56	101721812	44642210	4859	9967	208	2								
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721817	101721817	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggtgagcctggcgctctTctttgcgctgagctaaagct					rs201076736		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721817T>C	ENST00000318607.5	-	8	2243	c.1115A>G	c.(1114-1116)gAa>gGa	p.E372G	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.E327G|PABPC1_ENST00000522387.1_Missense_Mutation_p.E340G|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	372					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTGGCGCTCTTCTTTGCGCTG	0.493																																					p.E372G		Atlas-SNP	.											.	PABPC1	76	.	0			c.A1115G						PASS	.						138	118	125					8																	101721817		2203	4300	6503	SO:0001583	missense	26986	exon8			CGCTCTTCTTTGC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1115A>G	8.37:g.101721817T>C	ENSP00000313007:p.Glu372Gly	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	345	126	0.365217	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.844761|4.844761	0.91197|0.91197	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	T;T;T|.	0.06068|.	3.35;3.35;3.35|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.80380|0.80380	0.4612|0.4612	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.977;0.999|.	D;P;D|.	0.79784|.	0.963;0.822;0.993|.	D|D	0.84036|0.84036	0.0362|0.0362	10|5	0.87932|.	D|.	0|.	.|.	15.0956|15.0956	0.72232|0.72232	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	340;372;372|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	G|E	372;372;327;340|241	ENSP00000313007:E372G;ENSP00000429594:E327G;ENSP00000429395:E340G|.	ENSP00000313007:E372G|.	E|K	-|-	2|1	0|0	PABPC1|PABPC1	101790993|101790993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.968000|7.968000	0.87980|0.87980	2.028000|2.028000	0.59812|0.59812	0.459000|0.459000	0.35465|0.35465	GAA|AAG	.	.	weak		0.493	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101721817	T	C	101721817	3	2	22	1	0	0	0	0	1	0	0	0	11363	1783	62	2	823	2	PABPC1	8	101721817	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	101721817	44642205	4860	9968	208	2								
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721839	101721839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcgctgagctaaagctaCatacaatggctttgtggcca	10	9	0	1	rs202074479		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721839C>A	ENST00000318607.5	-	8	2221	c.1093G>T	c.(1093-1095)Gta>Tta	p.V365L	PABPC1_ENST00000519004.1_Missense_Mutation_p.V320L|PABPC1_ENST00000522387.1_Missense_Mutation_p.V333L|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	365	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCTAAAGCTACATACAATGGC	0.463																																					p.V365L		Atlas-SNP	.											.	PABPC1	76	.	0			c.G1093T						PASS	.						120	104	109					8																	101721839		2203	4300	6503	SO:0001583	missense	26986	exon8			AAGCTACATACAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1093G>T	8.37:g.101721839C>A	ENSP00000313007:p.Val365Leu	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	294	88	0.29932	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	30|30|30	5.056922|5.056922|5.056922	0.93846|0.93846|0.93846	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|.|T;T;T	.|.|0.08720	.|.|3.06;3.06;3.06	5.05|5.05|5.05	5.05|5.05|5.05	0.67936|0.67936|0.67936	.|.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|.|0.000000	.|.|0.56097	.|.|D	.|.|0.000031	T|T|T	0.29256|0.29256|0.29256	0.0728|0.0728|0.0728	M|M|M	0.74647|0.74647|0.74647	2.275|2.275|2.275	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D;D	.|.|0.54772	.|.|0.757;0.968;0.968	.|.|B;D;P	.|.|0.63283	.|.|0.299;0.913;0.587	T|T|T	0.01925|0.01925|0.01925	-1.1246|-1.1246|-1.1246	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	18.7718|18.7718|18.7718	0.91894|0.91894|0.91894	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|333;365;365	.|.|E7ERJ7;B3KT93;P11940	.|.|.;.;PABP1_HUMAN	F|I|L	197|233|365;365;320;333	.|.|ENSP00000313007:V365L;ENSP00000429594:V320L;ENSP00000429395:V333L	.|.|ENSP00000313007:V365L	C|M|V	-|-|-	2|3|1	0|0|0	PABPC1|PABPC1|PABPC1	101791015|101791015|101791015	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.748000|7.748000|7.748000	0.85085|0.85085|0.85085	2.507000|2.507000|2.507000	0.84556|0.84556|0.84556	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	TGT|ATG|GTA	.	.	weak		0.463	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721839	C	A	101721839	3	1	22	1	0	0	0	0	1	0	0	0	11363	478	17	4	845	4	PABPC1	8	101721839	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22	101721839	44642183	4861	9969										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721899	101721899	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaactgctttagtggcttCttctggggaggagaaacata	12	6	2	1	rs142985461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101721899C>A	ENST00000318607.5	-	8	2161	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Nonsense_Mutation_p.E300*|PABPC1_ENST00000522387.1_Nonsense_Mutation_p.E313*|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	345	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTAGTGGCTTCTTCTGGGGAG	0.423																																					p.E345X		Atlas-SNP	.											PABPC1,colon,carcinoma,+2,1	PABPC1	76	1	0			c.G1033T						scavenged	.						74	69	71					8																	101721899		2203	4298	6501	SO:0001587	stop_gained	26986	exon8			TGGCTTCTTCTGG	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1033G>T	8.37:g.101721899C>A	ENSP00000313007:p.Glu345*	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	246	59	0.239837	NM_002568	Q15097|Q93004	Nonsense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	41|41|41	8.575894|8.575894|8.575894	0.98870|0.98870|0.98870	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596	.|.|.	.|.|.	.|.|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000008|.|.	.|T|T	.|0.74412|0.74412	.|0.3713|0.3713	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.73987|0.73987	.|-0.3809|-0.3809	.|3|3	0.87932|.|.	D|.|.	0|.|.	.|.|.	18.4911|18.4911|18.4911	0.90848|0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	345;345;300;313|213|177	.|.|.	ENSP00000313007:E345X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101791075|101791075|101791075	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.748000|7.748000|7.748000	0.85085|0.85085|0.85085	2.426000|2.426000|2.426000	0.82243|0.82243|0.82243	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	C|0.842;A|0.159	0.159	strong		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721899	C	A	101721899	4	1	22	1	0	0	0	0	0	1	0	0	11363	922	32	4	905	4	PABPC1	8	101721899	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60	101721899	44642123	4862	9970										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		Atlas-SNP	.											PABPC1,NS,carcinoma,0,2	PABPC1	76	2	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						scavenged	.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	269	3	0.0111524	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.	.	weak		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	22	1	0	0	0	0	1	0	0	0	11363	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2707	101724606	44639416	4863	9971										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101727716	101727716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaaagagatccttaaggCgctcatcatccatgtcttct	7	12	4	1	rs201157005		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101727716C>T	ENST00000318607.5	-	4	1745	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PABPC1_ENST00000519004.1_Missense_Mutation_p.R161H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R174H|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	206	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATCCTTAAGGCGCTCATCATC	0.353																																					p.R206H		Atlas-SNP	.											PABPC1,NS,carcinoma,-1,1	PABPC1	76	1	0			c.G617A						scavenged	.																																			SO:0001583	missense	26986	exon4			TTAAGGCGCTCAT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.617G>A	8.37:g.101727716C>T	ENSP00000313007:p.Arg206His	Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	115	5	0.0434783	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	130|130	0.05952380952380952|0.05952380952380952	45|45	0.09146341463414634|0.09146341463414634	8|8	0.022099447513812154|0.022099447513812154	29|29	0.050699300699300696|0.050699300699300696	48|48	0.0633245382585752|0.0633245382585752	C|C	15.89|15.89	2.967520|2.967520	0.53507|0.53507	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|D;D;T	.|0.84370	.|-1.84;-1.84;2.38	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.56097	.|D	.|0.000024	T|T	0.14184|0.14184	0.0343|0.0343	N|N	0.25647|0.25647	0.755|0.755	0.44736|0.44736	D|D	0.997731|0.997731	.|B;B;B	.|0.24920	.|0.005;0.053;0.114	.|B;B;B	.|0.20384	.|0.008;0.029;0.026	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.49607	.|T	.|0.09	.|.	18.734|18.734	0.91748|0.91748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174;206;206	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	T|H	78|206;206;161;174	.|ENSP00000313007:R206H;ENSP00000429594:R161H;ENSP00000429395:R174H	.|ENSP00000313007:R206H	A|R	-|-	1|2	0|0	PABPC1|PABPC1	101796892|101796892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.004000|6.004000	0.70709|0.70709	2.482000|2.482000	0.83794|0.83794	0.585000|0.585000	0.79938|0.79938	GCC|CGC	C|0.940;T|0.060	0.060	strong		0.353	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101727716	C	T	101727716	3	4	22	1	0	0	0	0	1	0	0	0	11363	768	27	1	1337	1	PABPC1	8	101727716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3110	101727716	44636306	4864	9972										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101727766	101727766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatgtaaacattggtgaaTtcttttgccctagctccaag	8	8	1	2	rs201406152		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:101727766T>C	ENST00000318607.5	-	4	1695	c.567A>G	c.(565-567)gaA>gaG	p.E189E	PABPC1_ENST00000519004.1_Silent_p.E144E|PABPC1_ENST00000522387.1_Silent_p.E157E|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	189	CSDE1-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.E189E(5)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGGTGAATTCTTTTGCCC	0.343																																					p.E189E		Atlas-SNP	.											PABPC1,colon,carcinoma,-2,6	PABPC1	76	6	5	Substitution - coding silent(5)	kidney(5)	c.A567G						scavenged	.						98	87	91					8																	101727766		2203	4300	6503	SO:0001819	synonymous_variant	26986	exon4			GGTGAATTCTTTT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.567A>G	8.37:g.101727766T>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	138	6	0.0434783	NM_002568	Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.36|10.36	1.329390|1.329390	0.24167|0.24167	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596;ENST00000523555|ENST00000519100	.|.	.|.	.|.	5.03|5.03	-2.16|-2.16	0.07080|0.07080	.|.	.|.	.|.	.|.	.|.	T|T	0.55737|0.55737	0.1939|0.1939	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53620|0.53620	-0.8413|-0.8413	4|4	.|.	.|.	.|.	.|.	10.9103|10.9103	0.47106|0.47106	0.0:0.219:0.0:0.781|0.0:0.219:0.0:0.781	.|.	.|.	.|.	.|.	V|S	22;136|61	.|.	.|.	I|N	-|-	1|2	0|0	PABPC1|PABPC1	101796942|101796942	0.676000|0.676000	0.27567|0.27567	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	-0.104000|-0.104000	0.10923|0.10923	-0.219000|-0.219000	0.10003|0.10003	-0.292000|-0.292000	0.09595|0.09595	ATT|AAT	T|0.998;C|0.002	0.002	weak		0.343	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101727766	T	C	101727766	2	2	22	1	0	0	0	0	0	0	0	1	11363	1490	52	2		2	PABPC1	8	101727766	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	50	101727766	44636256	4865	9973										
RRM2B	50484	hgsc.bcm.edu	37	chr8	103251034	103251034	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgactgcggtgagggggaAgacgcaacagcaacatttac	14	9	0	3	rs72554092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:103251034A>C	ENST00000251810.3	-	1	292				RRM2B_ENST00000395912.2_Intron|RRM2B_ENST00000519317.1_Intron|KB-431C1.4_ENST00000520820.1_RNA|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)						deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	GTGAGGGGGAAGACGCAACAG	0.637								Modulation of nucleotide pools					A|||	104	0.0207668	0.0764	0.0029	5008	,	,		13321	0.0		0.0	False		,,,				2504	0.001				p.L6R		Atlas-SNP	.											.	RRM2B	31	.	0			c.T17G						PASS	.	A	ARG/LEU,,	414,3992	200.4+/-223.7	20,374,1809	63	62	62		17,,	-4.6	0	8	dbSNP_130	62	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron,intron	RRM2B	NM_001172477.1,NM_001172478.1,NM_015713.4	102,,	20,376,6107	CC,CA,AA		0.0233,9.3963,3.1985	,,	6/424,,	103251034	416,12590	2203	4300	6503	SO:0001627	intron_variant	50484	exon1			GGGGGAAGACGCA	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.48+20T>G	8.37:g.103251034A>C		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	26	15	0.576923	NM_001172477	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	CCDS34932.1																																																																																			A|0.975;C|0.025	0.025	strong		0.637	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			C	103251034	A	C	103251034	1	2	22	0	1	0	0	0	0	0	0	0	13683	72	3	5		5	RRM2B	8	103251034	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1523268	103251034	43112988	4866	9974										
UBR5	51366	hgsc.bcm.edu	37	chr8	103311153	103311153	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaatataaaatgagcattCgcctttcgatccttggattc	6	9	1	1	rs61752302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:103311153C>T	ENST00000520539.1	-	25	3855	c.3249G>A	c.(3247-3249)gcG>gcA	p.A1083A	UBR5_ENST00000521922.1_Silent_p.A1077A|UBR5_ENST00000220959.4_Silent_p.A1083A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1083					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATGAGCATTCGCCTTTCGAT	0.373													C|||	85	0.0169728	0.0514	0.0	5008	,	,		19740	0.0		0.0129	False		,,,				2504	0.0041				p.A1083A	Ovarian(131;96 1741 5634 7352 27489)	Atlas-SNP	.											.	UBR5	285	.	0			c.G3249A						PASS	.	C		243,4163	141.5+/-176.9	10,223,1970	137	126	130		3249	-0.1	1	8	dbSNP_129	130	176,8424	80.9+/-143.5	2,172,4126	no	coding-synonymous	UBR5	NM_015902.5		12,395,6096	TT,TC,CC		2.0465,5.5152,3.2216		1083/2800	103311153	419,12587	2203	4300	6503	SO:0001819	synonymous_variant	51366	exon25			AGCATTCGCCTTT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3249G>A	8.37:g.103311153C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	125	54	0.432	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1	27	0.012362637362637362	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	11.39	1.625663	0.28889	0.055152	0.020465	ENSG00000104517	ENST00000520898;ENST00000519365	.	.	.	5.96	-0.0952	0.13642	.	.	.	.	.	T	0.11067	0.0270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07195	-1.0785	4	.	.	.	.	7.0141	0.24879	0.0:0.2623:0.1432:0.5945	rs61752302	.	.	.	K	173;182	.	.	E	-	1	0	UBR5	103380329	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.243000	0.32767	-0.029000	0.13827	0.585000	0.79938	GAA	C|0.972;T|0.028	0.028	strong		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103311153	C	T	103311153	2	4	22	1	0	0	0	0	0	0	0	1	16902	871	31	1		1	UBR5	8	103311153	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60119	103311153	43052869	4867	9975										
ODF1	4956	hgsc.bcm.edu	37	chr8	103573020	103573037	+	In_Frame_Del	DEL	TGCAGCCCCTGCAACCCG	TGCAGCCCCTGCAACCCG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcagcccctgcaaccccTgcagcccctgcaacccgtgc					rs143802899|rs111689913|rs568456031|rs372688769|rs369192995|rs377699584|rs62523272|rs62523273|rs386728348|rs58232162|rs150771034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGCAGCCCCTGCAACCCG	TGCAGCCCCTGCAACCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:103573020_103573037delTGCAGCCCCTGCAACCCG	ENST00000285402.3	+	2	817_834	c.661_678delTGCAGCCCCTGCAACCCG	c.(661-678)tgcagcccctgcaacccgdel	p.CSPCNP221del	ODF1_ENST00000518835.1_In_Frame_Del_p.CSPCNP14del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	221	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ctgcaacccctgcagcccctgcaacccgtgcagcccAT	0.546																																					p.220_226del		Pindel	.											.	ODF1	55	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.660_677del						PASS	.																																			SO:0001651	inframe_deletion	4956	exon2			.	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.661_678delTGCAGCCCCTGCAACCCG	8.37:g.103573020_103573037delTGCAGCCCCTGCAACCCG	ENSP00000285402:p.Cys221_Pro226del	Somatic	142	.	.		WXS	Illumina HiSeq	Phase_I	100	16	0.16	NM_024410	Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	CCDS6293.1																																																																																			.	.	strong		0.546	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			-	103573037	TGCAGCCCCTGCAACCCG	-	103573020	7	5	22	1	0	1	0	1	0	0	0	0	10826	1580	55	0	667	0	ODF1	8	103573020	In_Frame_Del	DEL	TGCAGCCCCTGCAACCCG	TCGA-G8-6324-01A-11D-2210-10	261867	103573020	42791002	4868	9976	209	2								
ODF1	4956	hgsc.bcm.edu	37	chr8	103573024	103573024	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccctgcaacccctgcaGcccctgcaacccgtgcagcc					rs568456031|rs143802899|rs111689913|rs58232162|rs386728348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:103573024G>A	ENST00000285402.3	+	2	821	c.665G>A	c.(664-666)aGc>aAc	p.S222N	ODF1_ENST00000518835.1_Missense_Mutation_p.S15N	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	222	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			aacccctgcagcccctgcaac	0.567													A|||	442	0.0882588	0.3011	0.0303	5008	,	,		16173	0.0129		0.0099	False		,,,				2504	0.0				p.S222N		Atlas-SNP	.											.	ODF1	55	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G665A						PASS	.	A	ASN/SER	1013,3353		178,657,1348	60	59	59		665	-4.1	0	8	dbSNP_132	59	30,8398		1,28,4185	no	missense	ODF1	NM_024410.3	46	179,685,5533	AA,AG,GG		0.356,23.202,8.1523	benign	222/251	103573024	1043,11751	2183	4214	6397	SO:0001583	missense	4956	exon2			CCTGCAGCCCCTG	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.665G>A	8.37:g.103573024G>A	ENSP00000285402:p.Ser222Asn	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	106	42	0.396226	NM_024410	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	188	0.08608058608058608	164	0.3333333333333333	11	0.03038674033149171	9	0.015734265734265736	4	0.005277044854881266	A	0.034	-1.317862	0.01320	0.23202	0.00356	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.86164	-2.08;1.89	4.92	-4.11	0.03928	.	1.048210	0.07416	N	0.893166	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.00688	-1.1609	10	0.22706	T	0.39	-12.522	13.0969	0.59197	0.6974:0.0:0.3026:0.0	.	222	Q14990	ODFP1_HUMAN	N	222;15	ENSP00000285402:S222N;ENSP00000430023:S15N	ENSP00000285402:S222N	S	+	2	0	ODF1	103642200	0.004000	0.15560	0.004000	0.12327	0.002000	0.02628	-1.097000	0.03349	-1.135000	0.02895	-1.581000	0.00855	AGC	G|0.893;A|0.107	0.107	strong		0.567	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			A	103573024	G	A	103573024	3	1	22	1	0	0	0	0	1	0	0	0	10826	971	34	2	671	2	ODF1	8	103573024	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	103573024	42790998	4869	9977	209	2								
ODF1	4956	hgsc.bcm.edu	37	chr8	103573086	103573086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatccctgtggaagccgaTtttcctgtaggaagatgatt	11	7	0	2	rs11995900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:103573086T>C	ENST00000285402.3	+	2	883	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L	ODF1_ENST00000518835.1_Missense_Mutation_p.F36L	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	243			F -> L (in dbSNP:rs11995900).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGGAAGCCGATTTTCCTGTAG	0.537													T|||	386	0.0770767	0.2587	0.0303	5008	,	,		19863	0.0129		0.0099	False		,,,				2504	0.0				p.F243L		Atlas-SNP	.											.	ODF1	55	.	0			c.T727C						PASS	.	T	LEU/PHE	1038,3368	365.1+/-317.3	121,796,1286	93	100	97		727	4	1	8	dbSNP_120	97	37,8563	22.8+/-68.1	0,37,4263	yes	missense	ODF1	NM_024410.3	22	121,833,5549	CC,CT,TT		0.4302,23.5588,8.2654	benign	243/251	103573086	1075,11931	2203	4300	6503	SO:0001583	missense	4956	exon2			AGCCGATTTTCCT	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.727T>C	8.37:g.103573086T>C	ENSP00000285402:p.Phe243Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	79	31	0.392405	NM_024410	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	170	0.07783882783882784	146	0.2967479674796748	11	0.03038674033149171	9	0.015734265734265736	4	0.005277044854881266	T	15.81	2.942523	0.53079	0.235588	0.004302	ENSG00000155087	ENST00000285402;ENST00000518835	T;T	0.29655	1.56;1.73	5.18	3.95	0.45737	.	0.114042	0.40302	N	0.001133	T	0.00012	0.0000	N	0.22421	0.69	0.32344	P	0.559367	B	0.11235	0.004	B	0.12156	0.007	T	0.24083	-1.0170	9	0.87932	D	0	-31.0421	8.7103	0.34380	0.1694:0.0:0.0:0.8306	rs11995900;rs52827661;rs59122996;rs11995900	243	Q14990	ODFP1_HUMAN	L	243;36	ENSP00000285402:F243L;ENSP00000430023:F36L	ENSP00000285402:F243L	F	+	1	0	ODF1	103642262	0.945000	0.32115	1.000000	0.80357	0.997000	0.91878	2.400000	0.44504	2.106000	0.64143	0.528000	0.53228	TTT	T|0.911;C|0.089	0.089	strong		0.537	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			C	103573086	T	C	103573086	3	2	22	1	0	0	0	0	1	0	0	0	10826	1493	52	2	733	2	ODF1	8	103573086	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	62	103573086	42790936	4870	9978										
ATP6V1C1	528	hgsc.bcm.edu	37	chr8	104054603	104054603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttggttggcttgtcagaTgaactggctaaactggatgc	13	7	2	2	rs7009365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:104054603T>C	ENST00000395862.3	+	3	327	c.168T>C	c.(166-168)gaT>gaC	p.D56D	ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Silent_p.D56D	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	56					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GCTTGTCAGATGAACTGGCTA	0.373													T|||	382	0.076278	0.2685	0.0375	5008	,	,		19747	0.0		0.0	False		,,,				2504	0.001				p.D56D		Atlas-SNP	.											.	ATP6V1C1	33	.	0			c.T168C						PASS	.	T		917,3489	353.1+/-312.0	113,691,1399	226	216	220		168	0.8	1	8	dbSNP_116	220	10,8590	4.3+/-15.6	1,8,4291	no	coding-synonymous	ATP6V1C1	NM_001695.4		114,699,5690	CC,CT,TT		0.1163,20.8125,7.1275		56/383	104054603	927,12079	2203	4300	6503	SO:0001819	synonymous_variant	528	exon3			GTCAGATGAACTG	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.168T>C	8.37:g.104054603T>C		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	157	82	0.522293	NM_001695		Silent	SNP	ENST00000395862.3	37	CCDS6296.1																																																																																			T|0.922;C|0.078	0.078	strong		0.373	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		C	104054603	T	C	104054603	2	2	22	1	0	0	0	0	0	0	0	1	1180	1461	51	2		2	ATP6V1C1	8	104054603	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	481517	104054603	42309419	4871	9979										
BAALC	79870	hgsc.bcm.edu	37	chr8	104240275	104240275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccattaatgtaacagataGcatccaacagatggacagaa	7	9	0	3	rs34542607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:104240275G>C	ENST00000297574.6	+	4	630	c.491G>C	c.(490-492)aGc>aCc	p.S164T	RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.3_ENST00000523775.1_RNA|BAALC_ENST00000523754.1_3'UTR|BAALC_ENST00000438105.2_3'UTR|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000309982.5_Missense_Mutation_p.S129T			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	164			S -> T (in dbSNP:rs34542607).			cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GTAACAGATAGCATCCAACAG	0.408													G|||	124	0.0247604	0.0908	0.0058	5008	,	,		24074	0.0		0.0	False		,,,				2504	0.0				p.S129T		Atlas-SNP	.											.	BAALC	15	.	0			c.G386C						PASS	.	G	,THR/SER	395,4011	198.1+/-222.0	21,353,1829	127	109	115		,386	3.9	0.9	8	dbSNP_126	115	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	BAALC	NM_001024372.1,NM_024812.2	,58	21,354,6128	CC,CG,GG		0.0116,8.965,3.0447	,benign	,129/146	104240275	396,12610	2203	4300	6503	SO:0001583	missense	79870	exon3			CAGATAGCATCCA	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.491G>C	8.37:g.104240275G>C	ENSP00000297574:p.Ser164Thr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	47	0.580247	NM_024812	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37		56	0.02564102564102564	55	0.11178861788617886	1	0.0027624309392265192	0	0.0	0	0.0	G	12.02	1.813455	0.32053	0.08965	1.16E-4	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.50813	0.73;0.73	4.8	3.9	0.45041	.	0.129605	0.48286	D	0.000192	T	0.00524	0.0017	.	.	.	0.80722	D	1	P;B	0.40970	0.734;0.447	B;B	0.32342	0.14;0.144	T	0.01894	-1.1252	9	0.22109	T	0.4	-12.8881	8.4904	0.33098	0.1123:0.0:0.8877:0.0	rs34542607	164;129	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	T	129;164	ENSP00000312457:S129T;ENSP00000297574:S164T	ENSP00000297574:S164T	S	+	2	0	BAALC	104309451	1.000000	0.71417	0.886000	0.34754	0.987000	0.75469	2.175000	0.42491	1.113000	0.41760	0.591000	0.81541	AGC	G|0.971;C|0.029	0.029	strong		0.408	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			C	104240275	G	C	104240275	3	2	22	1	0	0	0	0	1	0	0	0	1279	971	34	4	396	4	BAALC	8	104240275	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	185672	104240275	42123747	4872	9980										
RIMS2	9699	hgsc.bcm.edu	37	chr8	104513156	104513156	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggccgcctggctcccatCccggcggcctctcagccgcc	13	21	1	0	rs78505067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:104513156C>A	ENST00000406091.3	+	1	42	c.42C>A	c.(40-42)atC>atA	p.I14I	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	14					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCTCCCATCCCGGCGGCCT	0.677										HNSCC(12;0.0054)			C|||	38	0.00758786	0.0257	0.0058	5008	,	,		10505	0.0		0.0	False		,,,				2504	0.0				p.I14I		Atlas-SNP	.											.	RIMS2	1357	.	0			c.C42A						PASS	.	C		67,3591		1,65,1763	14	17	16		42	1.2	1	8	dbSNP_132	16	0,8116		0,0,4058	no	coding-synonymous	RIMS2	NM_001100117.2		1,65,5821	AA,AC,CC		0.0,1.8316,0.5691		14/1350	104513156	67,11707	1829	4058	5887	SO:0001819	synonymous_variant	9699	exon1			TCCCATCCCGGCG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.42C>A	8.37:g.104513156C>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	CCDS55269.1																																																																																			C|0.994;A|0.006	0.006	strong		0.677	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		A	104513156	C	A	104513156	2	1	22	1	0	0	0	0	0	0	0	1	13368	845	30	4		4	RIMS2	8	104513156	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	272881	104513156	41850866	4873	9981										
RIMS2	9699	hgsc.bcm.edu	37	chr8	104897606	104897606	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggaatattcacagtatgCtacttcggataccgcaatgc	9	9	1	1	rs146399863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:104897606C>G	ENST00000436393.2	+	2	354	c.113C>G	c.(112-114)gCt>gGt	p.A38G	RIMS2_ENST00000262231.10_Missense_Mutation_p.A68G|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.A68G|RIMS2_ENST00000406091.3_Missense_Mutation_p.A260G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	291	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACAGTATGCTACTTCGGAT	0.398										HNSCC(12;0.0054)			C|||	2	0.000399361	0.0015	0.0	5008	,	,		21790	0.0		0.0	False		,,,				2504	0.0				p.A260G		Atlas-SNP	.											.	RIMS2	1357	.	0			c.C779G						PASS	.	C	GLY/ALA,GLY/ALA	6,3780		0,6,1887	92	83	86		779,203	4.4	1	8	dbSNP_134	86	0,8240		0,0,4120	yes	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	60,60	0,6,6007	GG,GC,CC		0.0,0.1585,0.0499	benign,benign	260/1350,68/1164	104897606	6,12020	1893	4120	6013	SO:0001583	missense	9699	exon4			AGTATGCTACTTC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.113C>G	8.37:g.104897606C>G	ENSP00000390665:p.Ala38Gly	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	84	45	0.535714	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.15	2.450412	0.43531	0.001585	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.37584	1.19;1.19;2.19;2.26;2.25;2.18;2.62	5.31	4.42	0.53409	.	.	.	.	.	T	0.41419	0.1158	L	0.51422	1.61	0.80722	D	1	B;P;P;P;P	0.45902	0.278;0.676;0.868;0.694;0.559	B;B;P;B;B	0.48141	0.248;0.273;0.568;0.332;0.361	T	0.31138	-0.9954	9	0.54805	T	0.06	.	12.9673	0.58492	0.0:0.9206:0.0:0.0794	.	291;38;68;68;260	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	G	260;291;260;291;68;68;68;68;38	ENSP00000427018:A260G;ENSP00000384892:A260G;ENSP00000425205:A68G;ENSP00000262231:A68G;ENSP00000423559:A68G;ENSP00000386228:A68G;ENSP00000390665:A38G	ENSP00000262231:A68G	A	+	2	0	RIMS2	104966782	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	4.441000	0.59981	1.204000	0.43247	0.460000	0.39030	GCT	C|0.999;G|0.001	0.001	strong		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		G	104897606	C	G	104897606	3	3	22	1	0	0	0	0	1	0	0	0	13368	797	28	4	919	4	RIMS2	8	104897606	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	384450	104897606	41466416	4874	9982										
RIMS2	9699	hgsc.bcm.edu	37	chr8	105261725	105261725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccattaggtgacattcaGgtaggaatgatggacaaaaa	10	6	1	2	rs59975412|rs2028945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:105261725G>A	ENST00000436393.2	+	26	3895	c.3654G>A	c.(3652-3654)caG>caA	p.Q1218Q	RIMS2_ENST00000262231.10_Silent_p.Q1039Q|RIMS2_ENST00000507740.1_Silent_p.Q1014Q|RIMS2_ENST00000406091.3_Silent_p.Q1200Q|RIMS2_ENST00000339750.2_Silent_p.Q136Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1262					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGACATTCAGGTAGGAATGA	0.418										HNSCC(12;0.0054)			G|||	1182	0.236022	0.1316	0.2579	5008	,	,		15861	0.5357		0.0765	False		,,,				2504	0.2168				p.Q1200Q		Atlas-SNP	.											.	RIMS2	1357	.	0			c.G3600A						PASS	.	G	,	425,3307		20,385,1461	69	69	69		3600,3042	3.7	1	8	dbSNP_94	69	544,7624		21,502,3561	no	coding-synonymous,coding-synonymous	RIMS2	NM_001100117.2,NM_014677.4	,	41,887,5022	AA,AG,GG		6.6601,11.388,8.1429	,	1200/1350,1014/1164	105261725	969,10931	1866	4084	5950	SO:0001819	synonymous_variant	9699	exon22			CATTCAGGTAGGA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3654G>A	8.37:g.105261725G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	89	53	0.595506	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				.	.	weak		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105261725	G	A	105261725	2	1	22	1	0	0	0	0	0	0	0	1	13368	991	35	2		2	RIMS2	8	105261725	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	364119	105261725	41102297	4875	9983										
RIMS2	9699	hgsc.bcm.edu	37	chr8	105263979	105263979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagtagatccaaccttggcCcctctgacaagaagagcttc	8	13	1	4	rs10461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:105263979C>T	ENST00000436393.2	+	28	4276	c.4035C>T	c.(4033-4035)gcC>gcT	p.A1345A	RIMS2_ENST00000339750.2_Silent_p.A263A|RIMS2_ENST00000507740.1_Silent_p.A1141A|RIMS2_ENST00000406091.3_Silent_p.A1327A|RIMS2_ENST00000262231.10_Silent_p.A1166A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1389	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACCTTGGCCCCTCTGACAA	0.448										HNSCC(12;0.0054)			C|||	2394	0.478035	0.5227	0.536	5008	,	,		16632	0.6498		0.3529	False		,,,				2504	0.3282				p.A1327A		Atlas-SNP	.											.	RIMS2	1357	.	0			c.C3981T						PASS	.	C	,	1859,1877		476,907,485	149	149	149		3981,3423	0.4	1	8	dbSNP_52	149	2858,5328		525,1808,1760	no	coding-synonymous,coding-synonymous	RIMS2	NM_001100117.2,NM_014677.4	,	1001,2715,2245	TT,TC,CC		34.9133,49.7591,39.5655	,	1327/1350,1141/1164	105263979	4717,7205	1868	4093	5961	SO:0001819	synonymous_variant	9699	exon24			CTTGGCCCCTCTG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4035C>T	8.37:g.105263979C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	166	74	0.445783	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				C|0.553;T|0.447	0.447	strong		0.448	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105263979	C	T	105263979	2	4	22	1	0	0	0	0	0	0	0	1	13368	610	22	2		2	RIMS2	8	105263979	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2254	105263979	41100043	4876	9984										
DPYS	1807	hgsc.bcm.edu	37	chr8	105478933	105478933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccgcgagcccatgaagggGaactgcatgtgcgtgtgtgt	16	9	0	1	rs2298840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:105478933G>A	ENST00000351513.2	-	1	348	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	72					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGAAGGGGAACTGCATGT	0.736													G|||	1160	0.231629	0.2867	0.2133	5008	,	,		9267	0.3085		0.175	False		,,,				2504	0.1493				p.F72F		Atlas-SNP	.											.	DPYS	107	.	0			c.C216T						PASS	.	G		728,2942		64,600,1171	18	11	14		216	3	1	8	dbSNP_100	14	1026,5972		73,880,2546	no	coding-synonymous	DPYS	NM_001385.2		137,1480,3717	AA,AG,GG		14.6613,19.8365,16.4417		72/520	105478933	1754,8914	1835	3499	5334	SO:0001819	synonymous_variant	1807	exon1			GAAGGGGAACTGC	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.216C>T	8.37:g.105478933G>A		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	19	13	0.684211	NM_001385		Silent	SNP	ENST00000351513.2	37	CCDS6302.1																																																																																			G|0.763;A|0.237	0.237	strong		0.736	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		A	105478933	G	A	105478933	2	1	22	1	0	0	0	0	0	0	0	1	4746	1165	41	2		2	DPYS	8	105478933	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	214954	105478933	40885089	4877	9985										
LRP12	29967	hgsc.bcm.edu	37	chr8	105503401	105503401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtactctgagttgaggaacTtgcacatgctcctactgtcg	11	10	1	2	rs16871494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:105503401T>C	ENST00000276654.5	-	7	2188	c.2080A>G	c.(2080-2082)Agt>Ggt	p.S694G	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S675G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	694			S -> G (in dbSNP:rs16871494).		endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGAGGAACTTGCACATGCT	0.532													T|||	177	0.0353435	0.1286	0.0072	5008	,	,		19333	0.0		0.002	False		,,,				2504	0.0				p.S694G		Atlas-SNP	.											.	LRP12	124	.	0			c.A2080G						PASS	.	T	GLY/SER,GLY/SER	469,3937	220.4+/-237.8	15,439,1749	99	84	90		2023,2080	3.1	0.8	8	dbSNP_123	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	LRP12	NM_001135703.2,NM_013437.4	56,56	15,444,6044	CC,CT,TT		0.0581,10.6446,3.6445	benign,benign	675/841,694/860	105503401	474,12532	2203	4300	6503	SO:0001583	missense	29967	exon7			AGGAACTTGCACA	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2080A>G	8.37:g.105503401T>C	ENSP00000276654:p.Ser694Gly	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	189	93	0.492063	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	80	0.03663003663003663	78	0.15853658536585366	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	8.256	0.809999	0.16537	0.106446	5.81E-4	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.85484	-1.99;-1.94	5.49	3.13	0.36017	.	0.595743	0.20652	N	0.088183	T	0.00608	0.0020	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.00857	-1.1538	10	0.38643	T	0.18	-5.7539	8.0472	0.30555	0.0:0.2201:0.0:0.7799	rs16871494;rs52835469;rs16871494	675;694	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	G	675;694;59	ENSP00000399148:S675G;ENSP00000276654:S694G	ENSP00000276654:S694G	S	-	1	0	LRP12	105572577	0.961000	0.32948	0.772000	0.31596	0.845000	0.48019	1.626000	0.37039	0.482000	0.27582	0.528000	0.53228	AGT	T|0.957;C|0.043	0.043	strong		0.532	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		C	105503401	T	C	105503401	3	2	22	1	0	0	0	0	1	0	0	0	8954	1609	56	3	503	3	LRP12	8	105503401	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24468	105503401	40860621	4878	9986										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106813518	106813518	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaacactctccaagtgCaactgaagacagcttacagc	8	12	1	2	rs11993776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106813518C>G	ENST00000407775.2	+	8	1458	c.1208C>G	c.(1207-1209)gCa>gGa	p.A403G	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A271G|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A271G|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A134G|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	403			A -> G (in dbSNP:rs11993776). {ECO:0000269|PubMed:24549039}.		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)			TCTCCAAGTGCAACTGAAGAC	0.517													G|||	968	0.193291	0.441	0.1023	5008	,	,		19753	0.131		0.1024	False		,,,				2504	0.0808				p.A403G		Atlas-SNP	.											.	ZFPM2	219	.	0			c.C1208G						PASS	.	G	GLY/ALA	1423,2563		257,909,827	87	86	86		1208	4	0	8	dbSNP_120	86	787,7573		40,707,3433	yes	missense	ZFPM2	NM_012082.3	60	297,1616,4260	GG,GC,CC		9.4139,35.6999,17.9005	benign	403/1152	106813518	2210,10136	1993	4180	6173	SO:0001583	missense	23414	exon8			CAAGTGCAACTGA	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.1208C>G	8.37:g.106813518C>G	ENSP00000384179:p.Ala403Gly	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	136	48	0.352941	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	410	0.18772893772893773	209	0.4247967479674797	34	0.09392265193370165	83	0.1451048951048951	84	0.11081794195250659	G	0.020	-1.443220	0.01089	0.356999	0.094139	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19532	2.14;2.63;2.63;3.84	5.87	4.01	0.46588	.	0.152514	0.64402	N	0.000017	T	0.00012	0.0000	N	0.00926	-1.1	0.58432	P	8.000000000008E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.46965	-0.9153	9	0.06625	T	0.88	.	13.3304	0.60483	0.0:0.388:0.4991:0.1129	rs11993776;rs57100171;rs11993776	403	Q8WW38	FOG2_HUMAN	G	403;271;271;134	ENSP00000384179:A403G;ENSP00000430757:A271G;ENSP00000428720:A271G;ENSP00000367733:A134G	ENSP00000367733:A134G	A	+	2	0	ZFPM2	106882694	1.000000	0.71417	0.024000	0.17045	0.590000	0.36582	4.021000	0.57196	0.318000	0.23185	-0.120000	0.15030	GCA	C|0.817;G|0.183	0.183	strong		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106813518	C	G	106813518	3	3	22	1	0	0	0	0	1	0	0	0	17655	710	25	4	1238	4	ZFPM2	8	106813518	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1310117	106813518	39550504	4879	9987										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106813672	106813672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcacgaaccagagaccAgagatacagcctacaacaaa	6	12	1	2	rs920628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106813672A>G	ENST00000407775.2	+	8	1612	c.1362A>G	c.(1360-1362)ccA>ccG	p.P454P	ZFPM2_ENST00000520492.1_Silent_p.P322P|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.P322P|ZFPM2_ENST00000378472.4_Silent_p.P185P|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	454					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)			ACCAGAGACCAGAGATACAGC	0.453													G|||	629	0.125599	0.3873	0.0533	5008	,	,		20947	0.0069		0.0288	False		,,,				2504	0.045				p.P454P		Atlas-SNP	.											ZFPM2,NS,carcinoma,+2,1	ZFPM2	219	1	0			c.A1362G						PASS	.	G		1161,2601		174,813,894	64	70	68		1362	-4.6	0.5	8	dbSNP_86	68	196,8020		4,188,3916	no	coding-synonymous	ZFPM2	NM_012082.3		178,1001,4810	GG,GA,AA		2.3856,30.8612,11.3291		454/1152	106813672	1357,10621	1881	4108	5989	SO:0001819	synonymous_variant	23414	exon8			GAGACCAGAGATA	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.1362A>G	8.37:g.106813672A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			A|0.885;G|0.115	0.115	strong		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106813672	A	G	106813672	2	3	22	1	0	0	0	0	0	0	0	1	17655	175	7	3		3	ZFPM2	8	106813672	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	154	106813672	39550350	4880	9988										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106814086	106814086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtgtcagaaaagatgccTgaagctttgagtcccaacac	10	9	1	4	rs16873732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106814086T>C	ENST00000407775.2	+	8	2026	c.1776T>C	c.(1774-1776)ccT>ccC	p.P592P	ZFPM2_ENST00000520492.1_Silent_p.P460P|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.P460P|ZFPM2_ENST00000378472.4_Silent_p.P323P|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	592					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)			AAAAGATGCCTGAAGCTTTGA	0.458													T|||	332	0.0662939	0.1717	0.0403	5008	,	,		20006	0.0069		0.0268	False		,,,				2504	0.044				p.P592P		Atlas-SNP	.											.	ZFPM2	219	.	0			c.T1776C						PASS	.	T		493,3419		33,427,1496	130	132	131		1776	-6.5	1	8	dbSNP_123	131	191,8113		2,187,3963	no	coding-synonymous	ZFPM2	NM_012082.3		35,614,5459	CC,CT,TT		2.3001,12.6022,5.5992		592/1152	106814086	684,11532	1956	4152	6108	SO:0001819	synonymous_variant	23414	exon8			GATGCCTGAAGCT	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.1776T>C	8.37:g.106814086T>C		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	153	80	0.522876	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			T|0.939;C|0.061	0.061	strong		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106814086	T	C	106814086	2	2	22	1	0	0	0	0	0	0	0	1	17655	1567	55	3		3	ZFPM2	8	106814086	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	414	106814086	39549936	4881	9989										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106814695	106814695	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatctttccaggaattgtCtctaaacacttggaaacttc	6	9	2	0	rs35998713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106814695C>G	ENST00000407775.2	+	8	2635	c.2385C>G	c.(2383-2385)gtC>gtG	p.V795V	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.V526V|ZFPM2_ENST00000520492.1_Silent_p.V663V|ZFPM2_ENST00000517361.1_Silent_p.V663V|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	795					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)			CAGGAATTGTCTCTAAACACT	0.453													C|||	332	0.0662939	0.1717	0.0403	5008	,	,		21165	0.0069		0.0268	False		,,,				2504	0.044				p.V795V		Atlas-SNP	.											.	ZFPM2	219	.	0			c.C2385G						PASS	.	C		496,3310		32,432,1439	62	59	60		2385	4.8	1	8	dbSNP_126	60	191,8081		1,189,3946	no	coding-synonymous	ZFPM2	NM_012082.3		33,621,5385	GG,GC,CC		2.309,13.0321,5.688		795/1152	106814695	687,11391	1903	4136	6039	SO:0001819	synonymous_variant	23414	exon8			AATTGTCTCTAAA	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.2385C>G	8.37:g.106814695C>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	172	83	0.482558	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			C|0.952;G|0.048	0.048	strong		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106814695	C	G	106814695	2	3	22	1	0	0	0	0	0	0	0	1	17655	900	32	4		4	ZFPM2	8	106814695	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	609	106814695	39549327	4882	9990										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106815286	106815286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatcaagccaagtgattaTatttctggttctcttgtcat	8	7	4	1	rs1442320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106815286T>C	ENST00000407775.2	+	8	3226	c.2976T>C	c.(2974-2976)taT>taC	p.Y992Y	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.Y723Y|ZFPM2_ENST00000520492.1_Silent_p.Y860Y|ZFPM2_ENST00000517361.1_Silent_p.Y860Y|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	992					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)			CAAGTGATTATATTTCTGGTT	0.423													T|||	333	0.0664936	0.1725	0.0403	5008	,	,		19586	0.0069		0.0268	False		,,,				2504	0.044				p.Y992Y		Atlas-SNP	.											.	ZFPM2	219	.	0			c.T2976C						PASS	.	T		498,3248		33,432,1408	48	45	46		2976	-7.7	0.7	8	dbSNP_88	46	189,8027		2,185,3921	no	coding-synonymous	ZFPM2	NM_012082.3		35,617,5329	CC,CT,TT		2.3004,13.2942,5.7432		992/1152	106815286	687,11275	1873	4108	5981	SO:0001819	synonymous_variant	23414	exon8			TGATTATATTTCT	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.2976T>C	8.37:g.106815286T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	120	53	0.441667	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			T|0.939;C|0.061	0.061	strong		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106815286	T	C	106815286	2	2	22	1	0	0	0	0	0	0	0	1	17655	1413	49	2		2	ZFPM2	8	106815286	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	591	106815286	39548736	4883	9991										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106815517	106815517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcccagaatcctcagcaCgaagacgaccacaaatctcc	5	15	2	2	rs11995760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:106815517C>T	ENST00000407775.2	+	8	3457	c.3207C>T	c.(3205-3207)caC>caT	p.H1069H	ZFPM2_ENST00000520492.1_Silent_p.H937H|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.H937H|ZFPM2_ENST00000378472.4_Silent_p.H800H|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1069					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)			ATCCTCAGCACGAAGACGACC	0.478													T|||	628	0.125399	0.3858	0.0548	5008	,	,		18650	0.0069		0.0288	False		,,,				2504	0.045				p.H1069H		Atlas-SNP	.											.	ZFPM2	219	.	0			c.C3207T						PASS	.	T		1181,2705		171,839,933	67	66	66		3207	-4.7	0.3	8	dbSNP_120	66	196,8078		3,190,3944	no	coding-synonymous	ZFPM2	NM_012082.3		174,1029,4877	TT,TC,CC		2.3689,30.3911,11.324		1069/1152	106815517	1377,10783	1943	4137	6080	SO:0001819	synonymous_variant	23414	exon8			TCAGCACGAAGAC	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.3207C>T	8.37:g.106815517C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	135	56	0.414815	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			C|0.884;T|0.116	0.116	strong		0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106815517	C	T	106815517	2	4	22	1	0	0	0	0	0	0	0	1	17655	535	19	1		1	ZFPM2	8	106815517	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	231	106815517	39548505	4884	9992										
ABRA	137735	hgsc.bcm.edu	37	chr8	107782335	107782335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgccaacctcgggccaaGctgatgaccagggtggctgt	14	12	0	2	rs11996457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:107782335G>A	ENST00000311955.3	-	1	138	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTCGGGCCAAGCTGATGACCA	0.647													G|||	1405	0.280551	0.5378	0.1686	5008	,	,		17334	0.1944		0.2247	False		,,,				2504	0.1585				p.S28S		Atlas-SNP	.											ABRA,NS,adenoma,0,1	ABRA	57	1	0			c.C84T						PASS	.	G		2079,2327	567.8+/-382.2	499,1081,623	61	65	64		84	0.7	0.5	8	dbSNP_120	64	1815,6785	324.5+/-316.5	182,1451,2667	no	coding-synonymous	ABRA	NM_139166.4		681,2532,3290	AA,AG,GG		21.1047,47.1857,29.94		28/382	107782335	3894,9112	2203	4300	6503	SO:0001819	synonymous_variant	137735	exon1			GGCCAAGCTGATG	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.84C>T	8.37:g.107782335G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	120	55	0.458333	NM_139166		Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																			G|0.710;A|0.290	0.290	strong		0.647	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		A	107782335	G	A	107782335	2	1	22	1	0	0	0	0	0	0	0	1	100	962	34	2		2	ABRA	8	107782335	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	966818	107782335	38581687	4885	9993										
NUDCD1	84955	hgsc.bcm.edu	37	chr8	110301998	110301998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctttgattttctctgataTgtcttcatccatattttctt	3	9	4	2	rs2980618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110301998T>C	ENST00000239690.4	-	5	1179	c.805A>G	c.(805-807)Ata>Gta	p.I269V	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I240V	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTCTCTGATATGTCTTCATCC	0.299													T|||	1901	0.379593	0.177	0.4914	5008	,	,		12649	0.4603		0.3569	False		,,,				2504	0.5143				p.I269V		Atlas-SNP	.											.	NUDCD1	58	.	0			c.A805G						PASS	.	T	VAL/ILE,VAL/ILE	1006,3400	368.3+/-318.6	131,744,1328	57	58	58		718,805	1.5	1	8	dbSNP_101	58	3396,5204	500.8+/-375.3	655,2086,1559	yes	missense,missense	NUDCD1	NM_001128211.1,NM_032869.3	29,29	786,2830,2887	CC,CT,TT		39.4884,22.8325,33.8459	benign,benign	240/555,269/584	110301998	4402,8604	2203	4300	6503	SO:0001583	missense	84955	exon5			CTGATATGTCTTC	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.805A>G	8.37:g.110301998T>C	ENSP00000239690:p.Ile269Val	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	256	98	0.382812	NM_032869		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	825	0.37774725274725274	89	0.18089430894308944	168	0.46408839779005523	280	0.48951048951048953	288	0.37994722955145116	T	2.496	-0.316379	0.05422	0.228325	0.394884	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.16196	2.37;2.36	5.69	1.55	0.23275	HSP20-like chaperone (1);	0.308209	0.41194	D	0.000923	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.46133	-0.9213	9	0.30078	T	0.28	-0.2599	5.01	0.14308	0.1016:0.067:0.2299:0.6015	rs2980618;rs17365593;rs17846354;rs17859390;rs52832306;rs59034628;rs2980618	182;269;240	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	V	269;240	ENSP00000239690:I269V;ENSP00000410707:I240V	ENSP00000239690:I269V	I	-	1	0	NUDCD1	110371174	0.164000	0.22935	0.979000	0.43373	0.958000	0.62258	0.454000	0.21827	0.388000	0.25054	0.533000	0.62120	ATA	T|0.657;C|0.343	0.343	strong		0.299	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		C	110301998	T	C	110301998	3	2	22	1	0	0	0	0	1	0	0	0	10722	1464	51	2	970	2	NUDCD1	8	110301998	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2519663	110301998	36062024	4886	9994										
NUDCD1	84955	hgsc.bcm.edu	37	chr8	110302047	110302047	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccagcctgaacaaatgtTaaagacttgtaggatacaat	8	7	0	3	rs2980619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110302047T>G	ENST00000239690.4	-	5	1130	c.756A>C	c.(754-756)ttA>ttC	p.L252F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L223F	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GAACAAATGTTAAAGACTTGT	0.338													G|||	3361	0.671126	0.8941	0.6888	5008	,	,		13349	0.5218		0.4841	False		,,,				2504	0.7035				p.L252F		Atlas-SNP	.											.	NUDCD1	58	.	0			c.A756C						PASS	.	G	PHE/LEU,PHE/LEU	3700,706	294.4+/-283.1	1549,602,52	74	75	75		669,756	3.8	0.3	8	dbSNP_101	75	4656,3944	548.7+/-385.4	1241,2174,885	yes	missense,missense	NUDCD1	NM_001128211.1,NM_032869.3	22,22	2790,2776,937	GG,GT,TT		45.8605,16.0236,35.7527	benign,benign	223/555,252/584	110302047	8356,4650	2203	4300	6503	SO:0001583	missense	84955	exon5			AAATGTTAAAGAC	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.756A>C	8.37:g.110302047T>G	ENSP00000239690:p.Leu252Phe	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	370	370	1	NM_032869		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	1354	0.61996336996337	425	0.8638211382113821	247	0.6823204419889503	313	0.5472027972027972	369	0.4868073878627968	G	0.024	-1.391632	0.01185	0.839764	0.541395	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.16597	2.33;2.33	5.69	3.81	0.43845	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00057	-2.36	0.50632	P	1.2000000000000899E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33189	-0.9878	9	0.02654	T	1	-0.4768	7.738	0.28825	0.1458:0.0:0.7241:0.1301	rs2980619;rs17856026;rs17857287;rs52825694;rs60760734;rs2980619	165;252;223	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	F	252;223	ENSP00000239690:L252F;ENSP00000410707:L223F	ENSP00000239690:L252F	L	-	3	2	NUDCD1	110371223	1.000000	0.71417	0.277000	0.24703	0.139000	0.21198	2.429000	0.44758	0.293000	0.22520	-0.770000	0.03390	TTA	G|0.634;N|0.000	0.634	strong		0.338	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		G	110302047	T	G	110302047	3	3	22	1	0	0	0	0	1	0	0	0	10722	1751	61	5	1019	5	NUDCD1	8	110302047	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49	110302047	36061975	4887	9995										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110376861	110376861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaggctgactataagaggGgaaggtatcgttgctttttt	12	5	0	2	rs7008687	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110376861G>A	ENST00000378402.5	+	2	263	c.159G>A	c.(157-159)ggG>ggA	p.G53G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	53	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATAAGAGGGGAAGGTATCG	0.328										HNSCC(38;0.096)			G|||	1156	0.230831	0.4251	0.1542	5008	,	,		14556	0.002		0.2008	False		,,,				2504	0.2894				p.G53G		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.G159A						PASS	.						46	42	43					8																	110376861		1807	4068	5875	SO:0001819	synonymous_variant	93035	exon2			AAGAGGGGAAGGT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.159G>A	8.37:g.110376861G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	16	9	0.5625	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			G|0.774;A|0.226	0.226	strong		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110376861	G	A	110376861	2	1	22	1	0	0	0	0	0	0	0	1	11972	1219	43	2		2	PKHD1L1	8	110376861	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74814	110376861	35987161	4888	9996										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110408347	110408347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgatcagacagatttcccCgtcagagttctagttggagg	11	8	3	4	rs6469258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110408347C>T	ENST00000378402.5	+	11	1007	c.903C>T	c.(901-903)ccC>ccT	p.P301P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	301	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGATTTCCCCGTCAGAGTTC	0.393										HNSCC(38;0.096)			C|||	138	0.0275559	0.1006	0.0072	5008	,	,		17027	0.0		0.0	False		,,,				2504	0.0				p.P301P		Atlas-SNP	.											PKHD1L1,NS,carcinoma,+2,1	PKHD1L1	522	1	0			c.C903T						PASS	.	C		335,3603		16,303,1650	74	64	67		903	2.1	0.8	8	dbSNP_116	67	1,8335		0,1,4167	no	coding-synonymous	PKHD1L1	NM_177531.4		16,304,5817	TT,TC,CC		0.012,8.5069,2.7375		301/4244	110408347	336,11938	1969	4168	6137	SO:0001819	synonymous_variant	93035	exon11			TTTCCCCGTCAGA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.903C>T	8.37:g.110408347C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	49	25	0.510204	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			C|0.975;T|0.025	0.025	strong		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110408347	C	T	110408347	2	4	22	1	0	0	0	0	0	0	0	1	11972	639	23	1		1	PKHD1L1	8	110408347	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31486	110408347	35955675	4889	9997										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110413806	110413806	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatgatattcatctgcaGaaaggaaaagagtaaggctt	10	5	3	4	rs200316129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110413806G>A	ENST00000378402.5	+	14	1466	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	454					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q456Q(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCATCTGCAGAAAGGAAAAG	0.313										HNSCC(38;0.096)			G|||	2	0.000399361	0.0015	0.0	5008	,	,		13925	0.0		0.0	False		,,,				2504	0.0				p.Q454Q		Atlas-SNP	.											PKHD1L1,NS,carcinoma,0,1	PKHD1L1	522	1	1	Substitution - coding silent(1)	breast(1)	c.G1362A						PASS	.	G		2,3624		0,2,1811	76	69	71		1362	3.4	1	8		71	0,8154		0,0,4077	no	coding-synonymous	PKHD1L1	NM_177531.4		0,2,5888	AA,AG,GG		0.0,0.0552,0.017		454/4244	110413806	2,11778	1813	4077	5890	SO:0001819	synonymous_variant	93035	exon14			TCTGCAGAAAGGA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1362G>A	8.37:g.110413806G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			G|1.000;A|0.000	0.000	strong		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110413806	G	A	110413806	2	1	22	1	0	0	0	0	0	0	0	1	11972	933	33	2		2	PKHD1L1	8	110413806	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5459	110413806	35950216	4890	9998										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110489620	110489620	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaagaagcgaccagccacAtataagtacataggcctttt	7	12	0	1	rs1783148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110489620A>T	ENST00000378402.5	+	53	9188	c.9084A>T	c.(9082-9084)acA>acT	p.T3028T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3028					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCAGCCACATATAAGTACA	0.378										HNSCC(38;0.096)			A|||	2135	0.426318	0.3828	0.5187	5008	,	,		19204	0.3284		0.337	False		,,,				2504	0.6125				p.T3028T		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.A9084T						PASS	.	A		1421,2329		289,843,743	63	58	60		9084	-5.7	0.5	8	dbSNP_89	60	3000,5224		571,1858,1683	no	coding-synonymous	PKHD1L1	NM_177531.4		860,2701,2426	TT,TA,AA		36.4786,37.8933,36.9217		3028/4244	110489620	4421,7553	1875	4112	5987	SO:0001819	synonymous_variant	93035	exon53			AGCCACATATAAG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9084A>T	8.37:g.110489620A>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			A|0.634;T|0.366	0.366	strong		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110489620	A	T	110489620	2	4	22	1	0	0	0	0	0	0	0	1	11972	204	8	5		5	PKHD1L1	8	110489620	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75814	110489620	35874402	4891	9999										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110491801	110491801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatggtcaaatgattctttTtggcaatcatcacgagaaaa	7	6	4	2	rs116618272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110491801T>C	ENST00000378402.5	+	54	9215	c.9111T>C	c.(9109-9111)ttT>ttC	p.F3037F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3037	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGATTCTTTTTGGCAATCAT	0.328										HNSCC(38;0.096)			T|||	39	0.00778754	0.0287	0.0014	5008	,	,		20916	0.0		0.0	False		,,,				2504	0.0				p.F3037F		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.T9111C						PASS	.	T		56,3594		1,54,1770	127	111	116		9111	-2.1	1	8	dbSNP_132	116	0,8152		0,0,4076	no	coding-synonymous	PKHD1L1	NM_177531.4		1,54,5846	CC,CT,TT		0.0,1.5342,0.4745		3037/4244	110491801	56,11746	1825	4076	5901	SO:0001819	synonymous_variant	93035	exon54			TTCTTTTTGGCAA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9111T>C	8.37:g.110491801T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	87	40	0.45977	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			T|0.993;C|0.007	0.007	strong		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110491801	T	C	110491801	2	2	22	1	0	0	0	0	0	0	0	1	11972	1838	64	2		2	PKHD1L1	8	110491801	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2181	110491801	35872221	4892	10000										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110491840	110491840	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataattatactgtacctcaCccaggggcaaatgtgattat	7	8	1	1	rs1783147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110491840C>G	ENST00000378402.5	+	54	9254	c.9150C>G	c.(9148-9150)caC>caG	p.H3050Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3050	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.		H -> Q (in dbSNP:rs1783147).		immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTACCTCACCCAGGGGCAA	0.343										HNSCC(38;0.096)			C|||	2132	0.425719	0.382	0.5202	5008	,	,		20404	0.3284		0.337	False		,,,				2504	0.6094				p.H3050Q		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.C9150G						PASS	.	C	GLN/HIS	1380,2312		286,808,752	102	91	94		9150	-3.4	0.1	8	dbSNP_89	94	2940,5224		558,1824,1700	yes	missense	PKHD1L1	NM_177531.4	24	844,2632,2452	GG,GC,CC		36.0118,37.3781,36.4372	benign	3050/4244	110491840	4320,7536	1846	4082	5928	SO:0001583	missense	93035	exon54			ACCTCACCCAGGG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9150C>G	8.37:g.110491840C>G	ENSP00000367655:p.His3050Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	82	43	0.52439	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	800	0.3663003663003663	171	0.3475609756097561	178	0.49171270718232046	195	0.3409090909090909	256	0.33773087071240104	C	3.578	-0.086257	0.07097	0.373781	0.360118	ENSG00000205038	ENST00000378402	D	0.87887	-2.31	5.88	-3.42	0.04825	G8 domain (2);	1.091090	0.06978	N	0.819430	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.15925	-1.0420	9	0.06625	T	0.88	.	1.9072	0.03279	0.1153:0.2046:0.2997:0.3804	rs1783147;rs17447503;rs52824856;rs58215772;rs1783147	3050	Q86WI1	PKHL1_HUMAN	Q	3050	ENSP00000367655:H3050Q	ENSP00000367655:H3050Q	H	+	3	2	PKHD1L1	110561016	0.121000	0.22262	0.067000	0.19924	0.989000	0.77384	0.097000	0.15168	-0.330000	0.08514	0.655000	0.94253	CAC	C|0.626;G|0.374	0.374	strong		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		G	110491840	C	G	110491840	3	3	22	1	0	0	0	0	1	0	0	0	11972	506	18	4	9364	4	PKHD1L1	8	110491840	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39	110491840	35872182	4893	10001										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110492328	110492328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagctgcagaatcttcttAcagagaagttgttttgaatg	11	5	2	3	rs140472257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110492328A>C	ENST00000378402.5	+	55	9391	c.9287A>C	c.(9286-9288)tAc>tCc	p.Y3096S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3096	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAATCTTCTTACAGAGAAGTT	0.348										HNSCC(38;0.096)			A|||	43	0.00858626	0.0303	0.0043	5008	,	,		17254	0.0		0.0	False		,,,				2504	0.0				p.Y3096S		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.A9287C						PASS	.	A	SER/TYR	59,3605		0,59,1773	51	52	52		9287	3.8	0.2	8	dbSNP_134	52	0,8158		0,0,4079	yes	missense	PKHD1L1	NM_177531.4	144	0,59,5852	CC,CA,AA		0.0,1.6103,0.4991	benign	3096/4244	110492328	59,11763	1832	4079	5911	SO:0001583	missense	93035	exon55			CTTCTTACAGAGA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9287A>C	8.37:g.110492328A>C	ENSP00000367655:p.Tyr3096Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	138	58	0.42029	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	A	8.551	0.875589	0.17395	0.016103	0.0	ENSG00000205038	ENST00000378402	D	0.85411	-1.98	5.01	3.83	0.44106	G8 domain (2);	0.589185	0.17371	N	0.176674	T	0.69557	0.3124	M	0.76574	2.34	0.22213	N	0.999281	B	0.20164	0.042	B	0.32022	0.139	T	0.69176	-0.5214	10	0.36615	T	0.2	.	10.3982	0.44214	0.8352:0.1648:0.0:0.0	.	3096	Q86WI1	PKHL1_HUMAN	S	3096	ENSP00000367655:Y3096S	ENSP00000367655:Y3096S	Y	+	2	0	PKHD1L1	110561504	0.951000	0.32395	0.236000	0.24074	0.176000	0.22953	3.178000	0.50879	0.840000	0.34995	-0.323000	0.08544	TAC	A|0.993;C|0.007	0.007	strong		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110492328	A	C	110492328	3	2	22	1	0	0	0	0	1	0	0	0	11972	391	14	5	9505	5	PKHD1L1	8	110492328	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	488	110492328	35871694	4894	10002										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110534512	110534512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccttggatttaacatttcGtccatgtctattactaatcc	4	10	1	0	rs1563578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110534512G>A	ENST00000378402.5	+	74	12233	c.12129G>A	c.(12127-12129)tcG>tcA	p.S4043S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4043					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAACATTTCGTCCATGTCTA	0.388										HNSCC(38;0.096)			G|||	1429	0.285343	0.3464	0.3991	5008	,	,		17113	0.3244		0.1412	False		,,,				2504	0.2301				p.S4043S		Atlas-SNP	.											PKHD1L1,NS,carcinoma,+1,1	PKHD1L1	522	1	0			c.G12129A						scavenged	.	G		1209,2491		198,813,839	84	81	82		12129	0.8	1	8	dbSNP_88	82	1326,6866		117,1092,2887	no	coding-synonymous	PKHD1L1	NM_177531.4		315,1905,3726	AA,AG,GG		16.1865,32.6757,21.3169		4043/4244	110534512	2535,9357	1850	4096	5946	SO:0001819	synonymous_variant	93035	exon74			CATTTCGTCCATG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12129G>A	8.37:g.110534512G>A		Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																			G|0.740;A|0.260	0.260	strong		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110534512	G	A	110534512	2	1	22	1	0	0	0	0	0	0	0	1	11972	1132	40	1		1	PKHD1L1	8	110534512	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42184	110534512	35829510	4895	10003										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110539175	110539175	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagataatgactgtagtaaTtagctgtctggttggaagaa	11	5	1	3	rs141977750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110539175T>A	ENST00000378402.5	+	77	12751	c.12647T>A	c.(12646-12648)aTt>aAt	p.I4216N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4216					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTGTAGTAATTAGCTGTCTG	0.418										HNSCC(38;0.096)			T|||	46	0.0091853	0.0325	0.0043	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.0				p.I4216N		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.T12647A						PASS	.	T	ASN/ILE	77,3947		0,77,1935	93	98	96		12647	1.8	0	8	dbSNP_134	96	0,8418		0,0,4209	yes	missense	PKHD1L1	NM_177531.4	149	0,77,6144	AA,AT,TT		0.0,1.9135,0.6189	benign	4216/4244	110539175	77,12365	2012	4209	6221	SO:0001583	missense	93035	exon77			TAGTAATTAGCTG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12647T>A	8.37:g.110539175T>A	ENSP00000367655:p.Ile4216Asn	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	204	105	0.514706	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	T	7.650	0.682659	0.14907	0.019135	0.0	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87412	-2.25;-2.08	5.64	1.83	0.25207	.	0.492124	0.18017	N	0.154354	T	0.52933	0.1765	N	0.24115	0.695	0.09310	N	1	B	0.34015	0.435	B	0.27170	0.077	T	0.58312	-0.7658	10	0.72032	D	0.01	.	7.5255	0.27653	0.0:0.253:0.0:0.747	.	4216	Q86WI1	PKHL1_HUMAN	N	4216;1144	ENSP00000367655:I4216N;ENSP00000437376:I1144N	ENSP00000367655:I4216N	I	+	2	0	PKHD1L1	110608351	0.002000	0.14202	0.001000	0.08648	0.122000	0.20287	0.151000	0.16283	0.068000	0.16574	0.528000	0.53228	ATT	T|0.993;A|0.007	0.007	strong		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110539175	T	A	110539175	3	1	22	1	0	0	0	0	1	0	0	0	11972	1493	52	5	12953	5	PKHD1L1	8	110539175	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4663	110539175	35824847	4896	10004										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110539186	110539186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtagtaattagctgtctgGttggaagaatgtggctcttg	13	5	2	1	rs1783174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110539186G>A	ENST00000378402.5	+	77	12762	c.12658G>A	c.(12658-12660)Gtt>Att	p.V4220I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4220			V -> I (in dbSNP:rs1783174).		immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGCTGTCTGGTTGGAAGAAT	0.403										HNSCC(38;0.096)			A|||	1427	0.284944	0.3464	0.3991	5008	,	,		18077	0.3244		0.1402	False		,,,				2504	0.229				p.V4220I		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.G12658A						PASS	.	A	ILE/VAL	1263,2715		200,863,926	91	96	94		12658	-9.2	0	8	dbSNP_89	94	1345,7035		118,1109,2963	yes	missense	PKHD1L1	NM_177531.4	29	318,1972,3889	AA,AG,GG		16.0501,31.7496,21.1037	benign	4220/4244	110539186	2608,9750	1989	4190	6179	SO:0001583	missense	93035	exon77			TGTCTGGTTGGAA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12658G>A	8.37:g.110539186G>A	ENSP00000367655:p.Val4220Ile	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	200	92	0.46	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	570	0.260989010989011	150	0.3048780487804878	119	0.3287292817679558	193	0.3374125874125874	108	0.1424802110817942	A	0.784	-0.761348	0.02996	0.317496	0.160501	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85861	-2.04;-1.89	5.64	-9.18	0.00688	.	0.938892	0.08808	N	0.890675	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04128	-1.0975	9	0.07482	T	0.82	.	9.2526	0.37564	0.1675:0.1037:0.6181:0.1107	rs1783174;rs3200931;rs52800227;rs58003000;rs1783174	4220	Q86WI1	PKHL1_HUMAN	I	4220;1148	ENSP00000367655:V4220I;ENSP00000437376:V1148I	ENSP00000367655:V4220I	V	+	1	0	PKHD1L1	110608362	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-1.952000	0.01528	-1.635000	0.01535	-2.208000	0.00301	GTT	G|0.742;A|0.258	0.258	strong		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110539186	G	A	110539186	3	1	22	1	0	0	0	0	1	0	0	0	11972	1261	44	2	12964	2	PKHD1L1	8	110539186	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	110539186	35824836	4897	10005										
SYBU	55638	hgsc.bcm.edu	37	chr8	110587222	110587222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccccgatgttatacacAggatccgttccccctctctg	8	15	1	0	rs35039797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:110587222A>G	ENST00000422135.1	-	8	2420	c.1905T>C	c.(1903-1905)ccT>ccC	p.P635P	SYBU_ENST00000529175.1_Silent_p.P429P|SYBU_ENST00000399066.3_Silent_p.P632P|SYBU_ENST00000533065.1_Silent_p.P516P|SYBU_ENST00000433638.1_Silent_p.P635P|SYBU_ENST00000276646.9_Silent_p.P635P|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533895.1_Silent_p.P634P|SYBU_ENST00000528647.1_Silent_p.P634P|SYBU_ENST00000528331.1_Silent_p.P516P|SYBU_ENST00000424158.2_Silent_p.P640P|SYBU_ENST00000532779.1_Silent_p.P567P|SYBU_ENST00000408889.3_Silent_p.P516P|SYBU_ENST00000419099.1_Silent_p.P634P|SYBU_ENST00000440310.1_Silent_p.P635P|SYBU_ENST00000533171.1_Silent_p.P635P|SYBU_ENST00000408908.2_Silent_p.P635P|SYBU_ENST00000529690.1_Silent_p.P505P|SYBU_ENST00000446070.2_Silent_p.P634P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	635					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGTTATACACAGGATCCGTTC	0.587													A|||	288	0.057508	0.208	0.0144	5008	,	,		17399	0.0		0.003	False		,,,				2504	0.0				p.P635P		Atlas-SNP	.											.	SYBU	71	.	0			c.T1905C						PASS	.	A	,,,,,,,,,,,,,,	706,3390		44,618,1386	75	87	83		1902,1905,1905,1548,1902,1905,1548,1905,1902,1905,1902,1905,1548,1896,1902	-8.9	0.5	8	dbSNP_126	83	8,8354		0,8,4173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYBU	NM_001099743.1,NM_001099744.1,NM_001099745.1,NM_001099746.1,NM_001099747.1,NM_001099748.1,NM_001099749.1,NM_001099750.1,NM_001099751.1,NM_001099752.1,NM_001099753.1,NM_001099754.1,NM_001099755.1,NM_001099756.1,NM_017786.5	,,,,,,,,,,,,,,	44,626,5559	GG,GA,AA		0.0957,17.2363,5.7313	,,,,,,,,,,,,,,	634/663,635/664,635/664,516/545,634/663,635/664,516/545,635/664,634/663,635/664,634/663,635/664,516/545,632/661,634/663	110587222	714,11744	2048	4181	6229	SO:0001819	synonymous_variant	55638	exon8			ATACACAGGATCC	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1905T>C	8.37:g.110587222A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_001099752	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																			A|0.972;G|0.028	0.028	strong		0.587	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		G	110587222	A	G	110587222	2	3	22	1	0	0	0	0	0	0	0	1	15424	175	7	3		3	SYBU	8	110587222	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48036	110587222	35776800	4898	10006										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113275878	113275878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatacttacgtaagcactgCggtacttcaccactccaggt	7	13	2	0	rs16883323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:113275878C>T	ENST00000297405.5	-	61	10096	c.9852G>A	c.(9850-9852)ccG>ccA	p.P3284P	CSMD3_ENST00000343508.3_Silent_p.P3244P|CSMD3_ENST00000352409.3_Silent_p.P3214P|CSMD3_ENST00000455883.2_Silent_p.P3115P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3284	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAAGCACTGCGGTACTTCAC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	180	0.0359425	0.1324	0.0072	5008	,	,		16096	0.0		0.0	False		,,,				2504	0.0				p.P3284P		Atlas-SNP	.											CSMD3_ENST00000343508,caecum,carcinoma,0,4	CSMD3	2325	4	0			c.G9852A						PASS	.	C	,,	438,3968	208.8+/-229.8	21,396,1786	86	72	77		9345,9852,9732	-2.2	1	8	dbSNP_123	77	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	21,401,6081	TT,TC,CC		0.0581,9.941,3.4061	,,	3115/3539,3284/3708,3244/3668	113275878	443,12563	2203	4300	6503	SO:0001819	synonymous_variant	114788	exon61			GCACTGCGGTACT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9852G>A	8.37:g.113275878C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	70	36	0.514286	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			C|0.969;T|0.031	0.031	strong		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113275878	C	T	113275878	2	4	22	1	0	0	0	0	0	0	0	1	3946	755	27	1		1	CSMD3	8	113275878	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2688656	113275878	33088144	4899	10007										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113662508	113662508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtagagccaatggagaaAtcatgaccatagcgacggcc	11	10	1	3	rs7839690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:113662508A>G	ENST00000297405.5	-	19	3319	c.3075T>C	c.(3073-3075)gaT>gaC	p.D1025D	CSMD3_ENST00000343508.3_Silent_p.D985D|CSMD3_ENST00000352409.3_Silent_p.D1025D|CSMD3_ENST00000455883.2_Silent_p.D921D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1025	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATGGAGAAATCATGACCAT	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A|||	132	0.0263578	0.0968	0.0058	5008	,	,		14812	0.0		0.0	False		,,,				2504	0.0				p.D1025D		Atlas-SNP	.											CSMD3_ENST00000343508,colon,carcinoma,-2,2	CSMD3	2325	2	0			c.T3075C						PASS	.	A	,,	311,4095	166.2+/-197.5	10,291,1902	147	147	147		2763,3075,2955	2.3	1	8	dbSNP_116	147	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	10,296,6197	GG,GA,AA		0.0581,7.0586,2.4296	,,	921/3539,1025/3708,985/3668	113662508	316,12690	2203	4300	6503	SO:0001819	synonymous_variant	114788	exon19			GGAGAAATCATGA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3075T>C	8.37:g.113662508A>G		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	219	90	0.410959	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			A|0.972;G|0.028	0.028	strong		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113662508	A	G	113662508	2	3	22	1	0	0	0	0	0	0	0	1	3946	98	4	2		2	CSMD3	8	113662508	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	386630	113662508	32701514	4900	10008										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113668453	113668453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatagaaggtatataaaattActgctactaaatagaaactg	6	4	0	2	rs11992014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:113668453A>G	ENST00000297405.5	-	18	3178	c.2934T>C	c.(2932-2934)agT>agC	p.S978S	CSMD3_ENST00000343508.3_Silent_p.S938S|CSMD3_ENST00000352409.3_Silent_p.S978S|CSMD3_ENST00000455883.2_Silent_p.S874S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	978	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAATTACTGCTACTAA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A|||	156	0.0311502	0.1112	0.0115	5008	,	,		12832	0.0		0.001	False		,,,				2504	0.0				p.S978S		Atlas-SNP	.											CSMD3_ENST00000343508,NS,carcinoma,-2,2	CSMD3	2325	2	0			c.T2934C						PASS	.	A	,,	382,4024	189.5+/-215.6	17,348,1838	67	74	72		2622,2934,2814	2.5	1	8	dbSNP_120	72	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	17,353,6133	GG,GA,AA		0.0581,8.67,2.9755	,,	874/3539,978/3708,938/3668	113668453	387,12619	2203	4300	6503	SO:0001819	synonymous_variant	114788	exon18			AAAATTACTGCTA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2934T>C	8.37:g.113668453A>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	132	132	1	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			A|0.971;G|0.029	0.029	strong		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113668453	A	G	113668453	2	3	22	1	0	0	0	0	0	0	0	1	3946	388	14	2		2	CSMD3	8	113668453	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5945	113668453	32695569	4901	10009										
CSMD3	114788	hgsc.bcm.edu	37	chr8	114111156	114111156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagggctggatatgatgccaCtggatcctctcattgttcct	10	10	1	1	rs73701331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:114111156C>T	ENST00000297405.5	-	5	990	c.746G>A	c.(745-747)aGt>aAt	p.S249N	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S209N|CSMD3_ENST00000352409.3_Missense_Mutation_p.S249N|CSMD3_ENST00000455883.2_Missense_Mutation_p.S249N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	249	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATGATGCCACTGGATCCTCT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	47	0.00938498	0.034	0.0	5008	,	,		16287	0.002		0.0	False		,,,				2504	0.0				p.S249N		Atlas-SNP	.											.	CSMD3	2325	.	0			c.G746A						PASS	.	C	ASN/SER,ASN/SER,ASN/SER	106,4300	82.9+/-121.4	2,102,2099	124	107	112		746,746,626	5.3	1	8	dbSNP_130	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	46,46,46	2,103,6398	TT,TC,CC		0.0116,2.4058,0.8227	possibly-damaging,possibly-damaging,possibly-damaging	249/3539,249/3708,209/3668	114111156	107,12899	2203	4300	6503	SO:0001583	missense	114788	exon5			ATGCCACTGGATC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.746G>A	8.37:g.114111156C>T	ENSP00000297405:p.Ser249Asn	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	125	63	0.504	NM_052900	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	15	0.006868131868131868	14	0.028455284552845527	0	0.0	1	0.0017482517482517483	0	0.0	C	17.36	3.370151	0.61624	0.024058	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.32	5.32	0.75619	CUB (5);	0.058984	0.64402	D	0.000003	T	0.09686	0.0238	L	0.27944	0.81	0.30352	N	0.784714	P;P;D;P	0.65815	0.763;0.844;0.995;0.753	B;B;D;P	0.75020	0.288;0.445;0.985;0.671	T	0.05920	-1.0856	10	0.02654	T	1	.	19.3517	0.94389	0.0:1.0:0.0:0.0	.	249;249;249;209	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	N	209;249;249;249	ENSP00000345799:S209N;ENSP00000297405:S249N;ENSP00000412263:S249N;ENSP00000343124:S249N	ENSP00000297405:S249N	S	-	2	0	CSMD3	114180332	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.889000	0.63171	2.660000	0.90430	0.591000	0.81541	AGT	C|0.990;T|0.010	0.010	strong		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114111156	C	T	114111156	3	4	22	1	0	0	0	0	1	0	0	0	3946	565	20	2	10645	2	CSMD3	8	114111156	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	442703	114111156	32252866	4902	10010										
CSMD3	114788	hgsc.bcm.edu	37	chr8	114186003	114186003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtattaactgaattggcTatgcaggtgagctgagggtg	15	5	0	3	rs2219898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:114186003T>C	ENST00000297405.5	-	4	901	c.657A>G	c.(655-657)atA>atG	p.I219M	CSMD3_ENST00000352409.3_Missense_Mutation_p.I219M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I219M|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.I179M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	219	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		I -> M (in dbSNP:rs2219898). {ECO:0000269|PubMed:12943675}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATTGGCTATGCAGGTGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T|||	2334	0.466054	0.4365	0.611	5008	,	,		17045	0.6766		0.2674	False		,,,				2504	0.3906				p.I219M		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A657G						PASS	.	T	MET/ILE,MET/ILE,MET/ILE	1761,2645	524.6+/-371.4	368,1025,810	134	125	128		657,657,537	1.1	1	8	dbSNP_96	128	2303,6297	387.9+/-342.4	309,1685,2306	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	10,10,10	677,2710,3116	CC,CT,TT		26.7791,39.9682,31.2471	possibly-damaging,possibly-damaging,possibly-damaging	219/3539,219/3708,179/3668	114186003	4064,8942	2203	4300	6503	SO:0001583	missense	114788	exon4			ATTGGCTATGCAG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.657A>G	8.37:g.114186003T>C	ENSP00000297405:p.Ile219Met	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	160	61	0.38125	NM_052900	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	1012	0.4633699633699634	229	0.4654471544715447	195	0.5386740331491713	395	0.6905594405594405	193	0.2546174142480211	T	7.868	0.727602	0.15439	0.399682	0.267791	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.09	1.06	0.20224	Complement control module (2);Sushi/SCR/CCP (3);	0.186890	0.33631	N	0.004715	T	0.00012	0.0000	N	0.25245	0.725	0.44643	P	0.0023729999999999585	P;P;P;P	0.51653	0.828;0.571;0.947;0.708	B;B;P;P	0.52159	0.392;0.168;0.691;0.622	T	0.25745	-1.0123	9	0.37606	T	0.19	.	7.6324	0.28247	0.1313:0.0:0.2743:0.5944	rs2219898;rs52789540;rs58255477;rs2219898	219;219;219;179	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	M	179;219;219;219	ENSP00000345799:I179M;ENSP00000297405:I219M;ENSP00000412263:I219M;ENSP00000343124:I219M	ENSP00000297405:I219M	I	-	3	3	CSMD3	114255179	0.994000	0.37717	0.999000	0.59377	0.996000	0.88848	0.054000	0.14205	0.003000	0.14656	0.528000	0.53228	ATA	T|0.622;C|0.378	0.378	strong		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	114186003	T	C	114186003	3	2	22	1	0	0	0	0	1	0	0	0	3946	1512	53	3	10738	3	CSMD3	8	114186003	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74847	114186003	32178019	4903	10011										
TRPS1	7227	hgsc.bcm.edu	37	chr8	116631902	116631902	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctgcctctgctctttgCggagacttcaagggctcaca	9	13	6	1	rs7823278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:116631902C>A	ENST00000220888.5	-	2	543	c.384G>T	c.(382-384)ccG>ccT	p.P128P	TRPS1_ENST00000520276.1_Silent_p.P132P|TRPS1_ENST00000395715.3_Silent_p.P141P|TRPS1_ENST00000519076.1_Silent_p.P82P|TRPS1_ENST00000519674.1_Silent_p.P128P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	128					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCTCTTTGCGGAGACTTCA	0.522									Langer-Giedion syndrome				A|||	844	0.16853	0.5734	0.049	5008	,	,		18881	0.0		0.002	False		,,,				2504	0.0511				p.P141P		Atlas-SNP	.											TRPS1_ENST00000395715,NS,carcinoma,-1,2	TRPS1	516	2	0			c.G423T						PASS	.	A		1632,2214		341,950,632	58	58	58		423	5.8	1	8	dbSNP_116	58	20,8250		0,20,4115	no	coding-synonymous	TRPS1	NM_014112.2		341,970,4747	AA,AC,CC		0.2418,42.4337,13.6349		141/1295	116631902	1652,10464	1923	4135	6058	SO:0001819	synonymous_variant	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	TCTTTGCGGAGAC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.384G>T	8.37:g.116631902C>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																				C|0.873;A|0.127	0.127	strong		0.522	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		A	116631902	C	A	116631902	2	1	22	1	0	0	0	0	0	0	0	1	16590	755	27	4		4	TRPS1	8	116631902	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2445899	116631902	29732120	4904	10012										
UTP23	84294	hgsc.bcm.edu	37	chr8	117783975	117783975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaaaagaaaaaggcacCggacacacaatcatctgctt	8	9	2	2	rs16888728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:117783975C>T	ENST00000309822.2	+	3	745	c.644C>T	c.(643-645)cCg>cTg	p.P215L	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	215			P -> L (in dbSNP:rs16888728).		rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AAAAAGGCACCGGACACACAA	0.373													C|||	956	0.190895	0.4614	0.0821	5008	,	,		16387	0.0129		0.1133	False		,,,				2504	0.1656				p.P215L		Atlas-SNP	.											UTP23,NS,carcinoma,0,1	UTP23	38	1	0			c.C644T						PASS	.	C	LEU/PRO	1571,2829		276,1019,905	41	45	43		644	-0.5	0.1	8	dbSNP_123	43	843,7751		46,751,3500	yes	missense	UTP23	NM_032334.2	98	322,1770,4405	TT,TC,CC		9.8092,35.7045,18.5778	benign	215/250	117783975	2414,10580	2200	4297	6497	SO:0001583	missense	84294	exon3			AGGCACCGGACAC		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.644C>T	8.37:g.117783975C>T	ENSP00000308332:p.Pro215Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	89	50	0.561798	NM_032334	B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	CCDS6320.1	335	0.1533882783882784	206	0.4186991869918699	36	0.09944751381215469	9	0.015734265734265736	84	0.11081794195250659	C	8.050	0.765744	0.15983	0.357045	0.098092	ENSG00000147679	ENST00000309822	T	0.24151	1.87	5.96	-0.543	0.11851	.	0.696157	0.14855	N	0.294442	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.47787	-0.9090	9	0.28530	T	0.3	0.0651	7.2669	0.26234	0.5083:0.3659:0.1257:0.0	rs16888728;rs52795925;rs16888728	215	Q9BRU9	UTP23_HUMAN	L	215	ENSP00000308332:P215L	ENSP00000308332:P215L	P	+	2	0	UTP23	117853156	0.998000	0.40836	0.098000	0.21074	0.567000	0.35839	1.576000	0.36504	-0.081000	0.12662	-0.262000	0.10625	CCG	C|0.812;N|0.001;T|0.186	0.186	strong		0.373	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		T	117783975	C	T	117783975	3	4	22	1	0	0	0	0	1	0	0	0	17097	652	23	1	654	1	UTP23	8	117783975	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1152073	117783975	28580047	4905	10013										
RAD21	5885	hgsc.bcm.edu	37	chr8	117864867	117864867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaattctttgaggaattcAtccaaattatctgcctctcc	4	11	5	1	rs75160167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:117864867A>C	ENST00000297338.2	-	10	1529	c.1242T>G	c.(1240-1242)gaT>gaG	p.D414E	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	414					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGAGGAATTCATCCAAATTAT	0.403													A|||	36	0.0071885	0.0265	0.0014	5008	,	,		15827	0.0		0.0	False		,,,				2504	0.0				p.D414E		Atlas-SNP	.											.	RAD21	95	.	0			c.T1242G						PASS	.	A	GLU/ASP	88,4318	74.1+/-112.3	0,88,2115	115	112	113		1242	5.5	1	8	dbSNP_131	113	0,8600		0,0,4300	yes	missense	RAD21	NM_006265.2	45	0,88,6415	CC,CA,AA		0.0,1.9973,0.6766	benign	414/632	117864867	88,12918	2203	4300	6503	SO:0001583	missense	5885	exon10			GAATTCATCCAAA	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1242T>G	8.37:g.117864867A>C	ENSP00000297338:p.Asp414Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	203	86	0.423645	NM_006265	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	A	13.90	2.373790	0.42105	0.019973	0.0	ENSG00000164754	ENST00000297338	T	0.50277	0.75	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.32530	0.975	0.80722	D	1	B	0.28900	0.227	B	0.21360	0.034	T	0.12967	-1.0527	10	0.02654	T	1	-14.1824	15.669	0.77258	1.0:0.0:0.0:0.0	.	414	O60216	RAD21_HUMAN	E	414	ENSP00000297338:D414E	ENSP00000297338:D414E	D	-	3	2	RAD21	117934048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.009000	0.57110	2.092000	0.63282	0.460000	0.39030	GAT	A|0.992;C|0.008	0.008	strong		0.403	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		C	117864867	A	C	117864867	3	2	22	1	0	0	0	0	1	0	0	0	12981	214	8	5	673	5	RAD21	8	117864867	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	80892	117864867	28499155	4906	10014										
SLC30A8	169026	hgsc.bcm.edu	37	chr8	118184784	118184784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatcaacagcagccagccGggacagccaagtggttcgga	12	11	1	0	rs16889462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:118184784G>A	ENST00000456015.2	+	8	974	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	SLC30A8_ENST00000521243.1_Missense_Mutation_p.R276Q|SLC30A8_ENST00000427715.2_Missense_Mutation_p.R276Q|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R276Q	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	325			R -> Q (in dbSNP:rs16889462).|R -> W (in dbSNP:rs13266634). {ECO:0000269|PubMed:17293876}.		cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCAGCCAGCCGGGACAGCCAA	0.493													G|||	245	0.0489217	0.1301	0.0115	5008	,	,		19557	0.0635		0.0	False		,,,				2504	0.001				p.R325Q	Ovarian(162;1202 1922 6011 16223 52092)	Atlas-SNP	.											.	SLC30A8	102	.	0			c.G974A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	449,3957	216.8+/-235.3	24,401,1778	87	84	85		827,827,827,827,974	-2.3	0.9	8	dbSNP_123	85	7,8593	6.4+/-24.3	0,7,4293	yes	missense,missense,missense,missense,missense	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	43,43,43,43,43	24,408,6071	AA,AG,GG		0.0814,10.1906,3.5061	benign,benign,benign,benign,benign	276/321,276/321,276/321,276/321,325/370	118184784	456,12550	2203	4300	6503	SO:0001583	missense	169026	exon8			CCAGCCGGGACAG		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.974G>A	8.37:g.118184784G>A	ENSP00000415011:p.Arg325Gln	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	125	72	0.576	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	88	0.040293040293040296	56	0.11382113821138211	5	0.013812154696132596	27	0.0472027972027972	0	0.0	G	12.53	1.966104	0.34659	0.101906	8.14E-4	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.15	-2.29	0.06805	.	1.130630	0.06487	N	0.733902	T	0.00845	0.0028	N	0.12182	0.205	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.04178	-1.0971	10	0.38643	T	0.18	0.3986	6.4085	0.21678	0.4817:0.1284:0.3899:0.0	rs16889462;rs16889462	325	Q8IWU4	ZNT8_HUMAN	Q	276;276;276;325	ENSP00000428545:R276Q;ENSP00000407505:R276Q;ENSP00000431069:R276Q;ENSP00000415011:R325Q	ENSP00000407505:R276Q	R	+	2	0	SLC30A8	118253965	0.001000	0.12720	0.924000	0.36721	0.515000	0.34225	-0.269000	0.08596	-0.103000	0.12175	-0.157000	0.13467	CGG	A|0.044;G|0.956	0.044	strong		0.493	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		A	118184784	G	A	118184784	3	1	22	1	0	0	0	0	1	0	0	0	14561	1116	39	1	1004	1	SLC30A8	8	118184784	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	319917	118184784	28179238	4907	10015										
MAL2	114569	hgsc.bcm.edu	37	chr8	120233968	120233968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcctctctggcatggtgGctcaaattgatgctaactgg	11	9	2	1	rs2303398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120233968G>A	ENST00000276681.6	+	3	376	c.274G>A	c.(274-276)Gct>Act	p.A92T	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	92	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.		A -> T (in dbSNP:rs2303398).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TGGCATGGTGGCTCAAATTGA	0.433													A|||	563	0.11242	0.3238	0.0331	5008	,	,		19676	0.0308		0.0	False		,,,				2504	0.0828				p.A92T		Atlas-SNP	.											.	.	.	.	0			c.G274A						PASS	.	A	THR/ALA	1171,2763		182,807,978	128	127	127		275	5.2	1	8	dbSNP_100	127	21,8295		0,21,4137	yes	missense	MAL2	NM_052886.2	58	182,828,5115	AA,AG,GG		0.2525,29.7661,9.7306	benign	92/177	120233968	1192,11058	1967	4158	6125	SO:0001583	missense	114569	exon3			ATGGTGGCTCAAA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.274G>A	8.37:g.120233968G>A	ENSP00000475434:p.Ala92Thr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	135	88	0.651852	NM_052886	B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37																																																																																				G|0.895;A|0.105	0.105	strong		0.433	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		A	120233968	G	A	120233968	3	1	22	1	0	0	0	0	1	0	0	0	9200	1203	42	2	281	2	MAL2	8	120233968	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2049184	120233968	26130054	4908	10016										
NOV	4856	hgsc.bcm.edu	37	chr8	120429024	120429024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctccccagtgcccgggccGgtgccctgcgacgccgccga	13	21	0	0	rs2279112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120429024G>A	ENST00000259526.3	+	2	352	c.125G>A	c.(124-126)cGg>cAg	p.R42Q		NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TGCCCGGGCCGGTGCCCTGCG	0.716											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1567	0.312899	0.5681	0.1902	5008	,	,		13266	0.1538		0.2266	False		,,,				2504	0.3078				p.R42Q		Atlas-SNP	.											.	NOV	51	.	0			c.G125A						PASS	.	A	GLN/ARG	2280,2074		634,1012,531	10	10	10		125	-8.4	0	8	dbSNP_100	10	2260,6164		358,1544,2310	no	missense	NOV	NM_002514.3	43	992,2556,2841	AA,AG,GG		26.8281,47.6344,35.5298	benign	42/358	120429024	4540,8238	2177	4212	6389	SO:0001583	missense	4856	exon2			CGGGCCGGTGCCC	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.125G>A	8.37:g.120429024G>A	ENSP00000259526:p.Arg42Gln	Somatic	7	0	0	1503	WXS	Illumina HiSeq	Phase_I	13	7	0.538462	NM_002514		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	627	0.28708791208791207	286	0.5813008130081301	80	0.22099447513812154	95	0.1660839160839161	166	0.21899736147757257	A	11.67	1.708383	0.30322	0.523656	0.268281	ENSG00000136999	ENST00000259526	T	0.56941	0.43	5.39	-8.39	0.00969	Insulin-like growth factor-binding protein, IGFBP (3);	0.903135	0.09617	N	0.778031	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30909	-0.9962	9	0.02654	T	1	1.3931	5.4903	0.16773	0.2889:0.2:0.4299:0.0812	rs2279112;rs58156952	42	P48745	NOV_HUMAN	Q	42	ENSP00000259526:R42Q	ENSP00000259526:R42Q	R	+	2	0	NOV	120498205	0.000000	0.05858	0.006000	0.13384	0.508000	0.34012	-0.773000	0.04689	-1.696000	0.01421	-0.381000	0.06696	CGG	G|0.709;A|0.291	0.291	strong		0.716	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		A	120429024	G	A	120429024	3	1	22	1	0	0	0	0	1	0	0	0	10553	1116	39	1	131	1	NOV	8	120429024	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	195056	120429024	25934998	4909	10017										
ENPP2	5168	hgsc.bcm.edu	37	chr8	120569877	120569877	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttcaatgtcacgcacccTagctgtgtgcatcttcatga	8	11	4	1	rs2305129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120569877T>G	ENST00000075322.6	-	25	2534	c.2476A>C	c.(2476-2478)Agg>Cgg	p.R826R	ENPP2_ENST00000522167.1_Silent_p.R461R|ENPP2_ENST00000522826.1_Silent_p.R851R|ENPP2_ENST00000427067.2_Silent_p.R847R|ENPP2_ENST00000259486.6_Silent_p.R878R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	826					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCACGCACCCTAGCTGTGTGC	0.458													G|||	704	0.140575	0.2292	0.1167	5008	,	,		4696	0.1359		0.0427	False		,,,				2504	0.1431				p.R878R	Melanoma(20;305 879 2501 4818 31020)	Atlas-SNP	.											ENPP2,larynx,carcinoma,+2,1	ENPP2	254	1	0			c.A2632C						PASS	.	G	,,	957,3449	734.9+/-410.6	105,747,1351	226	203	211		2476,2551,2632	5	1	8	dbSNP_100	211	337,8263	804.5+/-407.3	5,327,3968	no	coding-synonymous,coding-synonymous,coding-synonymous	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,	110,1074,5319	GG,GT,TT		3.9186,21.7204,9.9493	,,	826/864,851/889,878/916	120569877	1294,11712	2203	4300	6503	SO:0001819	synonymous_variant	5168	exon26			GCACCCTAGCTGT	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2476A>C	8.37:g.120569877T>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	136	55	0.404412	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			T|0.887;G|0.113	0.113	strong		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			G	120569877	T	G	120569877	2	3	22	1	0	0	0	0	0	0	0	1	5130	1521	53	5		5	ENPP2	8	120569877	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	140853	120569877	25794145	4910	10018										
ENPP2	5168	hgsc.bcm.edu	37	chr8	120575112	120575112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacattgcagctctcctcGttgtcaggccggtgaggcag	12	13	3	1	rs61740048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120575112G>A	ENST00000075322.6	-	24	2464	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	ENPP2_ENST00000522167.1_Silent_p.N437N|ENPP2_ENST00000522826.1_Silent_p.N827N|ENPP2_ENST00000427067.2_Silent_p.N823N|ENPP2_ENST00000259486.6_Silent_p.N854N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	802					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N854N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478													G|||	21	0.00419329	0.0159	0.0	5008	,	,		19836	0.0		0.0	False		,,,				2504	0.0				p.N854N	Melanoma(20;305 879 2501 4818 31020)	Atlas-SNP	.											ENPP2_ENST00000522826,colon,carcinoma,0,7	ENPP2	254	7	1	Substitution - coding silent(1)	kidney(1)	c.C2562T						PASS	.	G	,,	48,4358	48.2+/-83.0	0,48,2155	109	97	101		2406,2481,2562	-6	0.2	8	dbSNP_129	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,	0,49,6454	AA,AG,GG		0.0116,1.0894,0.3767	,,	802/864,827/889,854/916	120575112	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	5168	exon25			CTCCTCGTTGTCA	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2406C>T	8.37:g.120575112G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	121	61	0.504132	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			G|0.997;A|0.003	0.003	strong		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120575112	G	A	120575112	2	1	22	1	0	0	0	0	0	0	0	1	5130	1136	40	1		1	ENPP2	8	120575112	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5235	120575112	25788910	4911	10019										
ENPP2	5168	hgsc.bcm.edu	37	chr8	120594802	120594802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagatgattcaaacttccAtgggtcccattattaggagc	10	8	1	2	rs4871364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120594802A>G	ENST00000075322.6	-	18	1642	c.1584T>C	c.(1582-1584)caT>caC	p.H528H	ENPP2_ENST00000522826.1_Silent_p.H528H|ENPP2_ENST00000259486.6_Silent_p.H580H|ENPP2_ENST00000427067.2_Silent_p.H524H|ENPP2_ENST00000522167.1_Silent_p.H167H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	528					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAAACTTCCATGGGTCCCAT	0.423													A|||	1329	0.265375	0.5227	0.1499	5008	,	,		18881	0.1389		0.174	False		,,,				2504	0.2239				p.H580H	Melanoma(20;305 879 2501 4818 31020)	Atlas-SNP	.											.	ENPP2	254	.	0			c.T1740C						PASS	.	A	,,	2179,2227	585.1+/-386.2	529,1121,553	159	163	161		1584,1584,1740	1.2	1	8	dbSNP_111	161	1559,7041	293.6+/-301.5	122,1315,2863	no	coding-synonymous,coding-synonymous,coding-synonymous	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,	651,2436,3416	GG,GA,AA		18.1279,49.4553,28.7406	,,	528/864,528/889,580/916	120594802	3738,9268	2203	4300	6503	SO:0001819	synonymous_variant	5168	exon19			ACTTCCATGGGTC	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1584T>C	8.37:g.120594802A>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	174	174	1	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			A|0.735;G|0.265	0.265	strong		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			G	120594802	A	G	120594802	2	3	22	1	0	0	0	0	0	0	0	1	5130	214	8	2		2	ENPP2	8	120594802	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19690	120594802	25769220	4912	10020										
TAF2	6873	hgsc.bcm.edu	37	chr8	120744349	120744349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcactgtgtttggaggctgTagattccttagtaaagactg	12	6	1	2	rs956748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120744349T>C	ENST00000378164.2	-	26	3713	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1139			T -> A (in dbSNP:rs956748).		G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGGAGGCTGTAGATTCCTTA	0.423													T|||	905	0.180711	0.4766	0.0677	5008	,	,		20051	0.0159		0.0577	False		,,,				2504	0.1575				p.T1139A		Atlas-SNP	.											.	TAF2	204	.	0			c.A3415G						PASS	.	T	ALA/THR	1847,2559	535.9+/-374.3	380,1087,736	318	296	304		3415	-11	0	8	dbSNP_86	304	579,8021	155.8+/-209.8	22,535,3743	yes	missense	TAF2	NM_003184.3	58	402,1622,4479	CC,CT,TT		6.7326,41.9201,18.6529	benign	1139/1200	120744349	2426,10580	2203	4300	6503	SO:0001583	missense	6873	exon26			AGGCTGTAGATTC	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3415A>G	8.37:g.120744349T>C	ENSP00000367406:p.Thr1139Ala	Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	310	0.14194139194139194	242	0.491869918699187	21	0.058011049723756904	2	0.0034965034965034965	45	0.059366754617414245	T	8.725	0.915254	0.17907	0.419201	0.067326	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.29655	2.54;1.56	6.02	-11.0	0.00169	.	1.047070	0.07380	N	0.887402	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	9	0.07030	T	0.85	-16.5437	12.0127	0.53297	0.0:0.5701:0.2142:0.2156	rs956748;rs52827029;rs60909112;rs956748	1139	Q6P1X5	TAF2_HUMAN	A	1139;315	ENSP00000367406:T1139A;ENSP00000436750:T315A	ENSP00000367406:T1139A	T	-	1	0	TAF2	120813530	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.780000	0.04654	-2.521000	0.00497	-0.256000	0.11100	ACA	T|0.823;C|0.177	0.177	strong		0.423	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120744349	T	C	120744349	3	2	22	1	0	0	0	0	1	0	0	0	15521	1638	57	2	188	2	TAF2	8	120744349	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	149547	120744349	25619673	4913	10021										
TAF2	6873	hgsc.bcm.edu	37	chr8	120744399	120744399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcttgccgctggatgcataCtcatctccaaaggtgcttgt	10	12	2	0	rs956749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120744399C>T	ENST00000378164.2	-	26	3663	c.3365G>A	c.(3364-3366)aGt>aAt	p.S1122N		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1122			S -> N (in dbSNP:rs956749).		G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGATGCATACTCATCTCCAA	0.453													C|||	418	0.0834665	0.23	0.0447	5008	,	,		18612	0.001		0.0557	False		,,,				2504	0.0266				p.S1122N		Atlas-SNP	.											.	TAF2	204	.	0			c.G3365A						PASS	.	C	ASN/SER	918,3488	351.8+/-311.4	94,730,1379	178	176	177		3365	3.2	0.5	8	dbSNP_86	177	541,8059	150.4+/-205.3	19,503,3778	yes	missense	TAF2	NM_003184.3	46	113,1233,5157	TT,TC,CC		6.2907,20.8352,11.2179	benign	1122/1200	120744399	1459,11547	2203	4300	6503	SO:0001583	missense	6873	exon26			TGCATACTCATCT	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3365G>A	8.37:g.120744399C>T	ENSP00000367406:p.Ser1122Asn	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	114	63	0.552632	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	188	0.08608058608058608	132	0.2682926829268293	12	0.03314917127071823	0	0.0	44	0.05804749340369393	C	4.530	0.098338	0.08681	0.208352	0.062907	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.30981	2.51;1.51	6.02	3.19	0.36642	.	0.492555	0.23459	N	0.047954	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	9	0.15952	T	0.53	-25.9834	5.9026	0.18976	0.0:0.529:0.317:0.154	rs956749;rs52829498;rs61430226;rs956749	1122	Q6P1X5	TAF2_HUMAN	N	1122;298	ENSP00000367406:S1122N;ENSP00000436750:S298N	ENSP00000367406:S1122N	S	-	2	0	TAF2	120813580	0.138000	0.22547	0.508000	0.27688	0.068000	0.16541	0.868000	0.27982	1.507000	0.48752	0.650000	0.86243	AGT	C|0.895;T|0.105	0.105	strong		0.453	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		T	120744399	C	T	120744399	3	4	22	1	0	0	0	0	1	0	0	0	15521	565	20	2	238	2	TAF2	8	120744399	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50	120744399	25619623	4914	10022										
TAF2	6873	hgsc.bcm.edu	37	chr8	120793296	120793296	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaaagtaaactgtaccttCtgtagaaaatagctttgaaa	7	5	1	3	rs7002501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120793296C>T	ENST00000378164.2	-	17	2548	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	750					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGTACCTTCTGTAGAAAAT	0.318													C|||	1318	0.263179	0.5106	0.1715	5008	,	,		16484	0.0407		0.2058	False		,,,				2504	0.2822				p.Q750Q		Atlas-SNP	.											.	TAF2	204	.	0			c.G2250A						PASS	.	C		2063,2343	561.5+/-380.7	476,1111,616	59	65	63		2250	1.3	1	8	dbSNP_116	63	2085,6515	357.5+/-330.8	229,1627,2444	no	coding-synonymous	TAF2	NM_003184.3		705,2738,3060	TT,TC,CC		24.2442,46.8225,31.893		750/1200	120793296	4148,8858	2203	4300	6503	SO:0001819	synonymous_variant	6873	exon17			TACCTTCTGTAGA	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2250G>A	8.37:g.120793296C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	CCDS34937.1																																																																																			C|0.713;T|0.287	0.287	strong		0.318	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		T	120793296	C	T	120793296	2	4	22	1	0	0	0	0	0	0	0	1	15521	912	32	2		2	TAF2	8	120793296	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48897	120793296	25570726	4915	10023										
TAF2	6873	hgsc.bcm.edu	37	chr8	120793332	120793332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaagctcataaagttgttTgttttcacaatgtttggaca	8	5	2	1	rs28619538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120793332T>C	ENST00000378164.2	-	17	2512	c.2214A>G	c.(2212-2214)acA>acG	p.T738T		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	738					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAAGTTGTTTGTTTTCACAA	0.348													T|||	117	0.0233626	0.0825	0.0086	5008	,	,		16206	0.0		0.002	False		,,,				2504	0.0				p.T738T		Atlas-SNP	.											.	TAF2	204	.	0			c.A2214G						PASS	.	T		271,4135	152.9+/-186.6	5,261,1937	79	84	82		2214	2.8	1	8	dbSNP_125	82	35,8565	24.0+/-70.4	0,35,4265	no	coding-synonymous	TAF2	NM_003184.3		5,296,6202	CC,CT,TT		0.407,6.1507,2.3528		738/1200	120793332	306,12700	2203	4300	6503	SO:0001819	synonymous_variant	6873	exon17			GTTGTTTGTTTTC	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2214A>G	8.37:g.120793332T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	62	36	0.580645	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	CCDS34937.1																																																																																			T|0.977;C|0.023	0.023	strong		0.348	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120793332	T	C	120793332	2	2	22	1	0	0	0	0	0	0	0	1	15521	1799	63	2		2	TAF2	8	120793332	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36	120793332	25570690	4916	10024										
TAF2	6873	hgsc.bcm.edu	37	chr8	120803654	120803654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atactgtagtattcccaggaCagtgtatgtggatgctttat	10	6	0	0	rs11996390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:120803654C>T	ENST00000378164.2	-	11	1621	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	441					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTCCCAGGACAGTGTATGTG	0.328													C|||	879	0.175519	0.3079	0.1427	5008	,	,		18326	0.0268		0.1968	False		,,,				2504	0.1513				p.L441L		Atlas-SNP	.											.	TAF2	204	.	0			c.G1323A						PASS	.	C		1341,3065	449.0+/-348.9	214,913,1076	108	102	104		1323	-9.6	0	8	dbSNP_120	104	1966,6632	344.2+/-325.2	203,1560,2536	no	coding-synonymous	TAF2	NM_003184.3		417,2473,3612	TT,TC,CC		22.8658,30.4358,25.4306		441/1200	120803654	3307,9697	2203	4299	6502	SO:0001819	synonymous_variant	6873	exon11			CCAGGACAGTGTA	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1323G>A	8.37:g.120803654C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	CCDS34937.1	381	0.17445054945054944	168	0.34146341463414637	51	0.1408839779005525	13	0.022727272727272728	149	0.19656992084432717	C	4.330	0.060658	0.08339	0.304358	0.228658	ENSG00000064313	ENST00000523904	.	.	.	4.79	-9.59	0.00556	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999670865	.	.	.	.	.	.	T	0.17561	-1.0365	3	.	.	.	-39.2558	13.4587	0.61214	0.2386:0.6286:0.0746:0.0582	rs11996390;rs57077905;rs11996390	.	.	.	Y	134	.	.	C	-	2	0	TAF2	120872835	0.001000	0.12720	0.002000	0.10522	0.717000	0.41224	-1.603000	0.02077	-3.771000	0.00109	-0.499000	0.04595	TGT	C|0.777;T|0.223	0.223	strong		0.328	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		T	120803654	C	T	120803654	2	4	22	1	0	0	0	0	0	0	0	1	15521	465	17	2		2	TAF2	8	120803654	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10322	120803654	25560368	4917	10025										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121256150	121256150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagccagaacaacctcctTctgaagcctctgcttcctga	8	14	2	3	rs2305603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:121256150T>C	ENST00000297848.3	+	20	2652	c.2382T>C	c.(2380-2382)ctT>ctC	p.L794L	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.L699L|COL14A1_ENST00000309791.4_Silent_p.L794L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACAACCTCCTTCTGAAGCCTC	0.488													T|||	935	0.186701	0.1362	0.219	5008	,	,		18729	0.4067		0.0258	False		,,,				2504	0.1708				p.L794L		Atlas-SNP	.											.	COL14A1	292	.	0			c.T2382C						PASS	.	T		585,3821	257.4+/-261.8	41,503,1659	190	186	187		2382	-0.4	1	8	dbSNP_100	187	306,8294	110.6+/-171.0	3,300,3997	no	coding-synonymous	COL14A1	NM_021110.1		44,803,5656	CC,CT,TT		3.5581,13.2773,6.8507		794/1797	121256150	891,12115	2203	4300	6503	SO:0001819	synonymous_variant	7373	exon20			CCTCCTTCTGAAG		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2382T>C	8.37:g.121256150T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																			T|0.882;C|0.118	0.118	strong		0.488	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		C	121256150	T	C	121256150	2	2	22	1	0	0	0	0	0	0	0	1	3671	1770	62	2		2	COL14A1	8	121256150	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	452496	121256150	25107872	4918	10026										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121259862	121259862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctactcagtaccatcctcGgggccccagaacttgcgggt	10	14	2	1	rs2305605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:121259862G>A	ENST00000297848.3	+	21	2760	c.2490G>A	c.(2488-2490)tcG>tcA	p.S830S	COL14A1_ENST00000309791.4_Silent_p.S830S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S735S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TACCATCCTCGGGGCCCCAGA	0.463													G|||	857	0.171126	0.0764	0.2147	5008	,	,		15153	0.4107		0.0258	False		,,,				2504	0.1708				p.S830S		Atlas-SNP	.											.	COL14A1	292	.	0			c.G2490A						PASS	.	G		313,4093	166.9+/-198.0	16,281,1906	59	55	56		2490	-1.8	0.2	8	dbSNP_100	56	301,8299	109.6+/-170.1	3,295,4002	no	coding-synonymous	COL14A1	NM_021110.1		19,576,5908	AA,AG,GG		3.5,7.1039,4.7209		830/1797	121259862	614,12392	2203	4300	6503	SO:0001819	synonymous_variant	7373	exon21			ATCCTCGGGGCCC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2490G>A	8.37:g.121259862G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	64	38	0.59375	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																			G|0.897;A|0.103	0.103	strong		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121259862	G	A	121259862	2	1	22	1	0	0	0	0	0	0	0	1	3671	1103	39	1		1	COL14A1	8	121259862	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3712	121259862	25104160	4919	10027										
WDR67	93594	hgsc.bcm.edu	37	chr8	124138855	124138855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccatccttccttccttctGatgactgttgtagcctacaa	5	13	1	2	rs16898012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124138855G>A	ENST00000287380.1	+	13	1902	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	TBC1D31_ENST00000309336.3_Silent_p.L604L|TBC1D31_ENST00000522420.1_Silent_p.L499L|TBC1D31_ENST00000378080.2_Silent_p.L499L|TBC1D31_ENST00000327098.5_Silent_p.L604L|TBC1D31_ENST00000521676.1_Silent_p.L481L|TBC1D31_ENST00000518805.1_Silent_p.L237L	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	604						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CCTTCCTTCTGATGACTGTTG	0.423													G|||	1490	0.297524	0.3858	0.3732	5008	,	,		15646	0.1815		0.2525	False		,,,				2504	0.2904				p.L604L		Atlas-SNP	.											.	WDR67	97	.	0			c.G1812A						PASS	.	G	,	1691,2715	513.1+/-368.2	325,1041,837	126	120	122		1812,1812	1.8	1	8	dbSNP_123	122	2218,6382	378.1+/-338.8	277,1664,2359	no	coding-synonymous,coding-synonymous	WDR67	NM_001145088.1,NM_145647.3	,	602,2705,3196	AA,AG,GG		25.7907,38.3795,30.0554	,	604/971,604/1067	124138855	3909,9097	2203	4300	6503	SO:0001819	synonymous_variant	93594	exon13			CCTTCTGATGACT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1812G>A	8.37:g.124138855G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	162	88	0.54321	NM_001145088	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	CCDS6338.1																																																																																			G|0.705;A|0.295	0.295	strong		0.423	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		A	124138855	G	A	124138855	2	1	22	1	0	0	0	0	0	0	0	1	17315	1277	45	2		2	WDR67	8	124138855	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2878993	124138855	22225167	4920	10028										
WDR67	93594	hgsc.bcm.edu	37	chr8	124154697	124154697	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggaggaagccaagaagGtaaaaaatagtgttataaac	12	3	0	1	rs10101626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124154697G>T	ENST00000287380.1	+	19	2925		c.e19+1		TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AGCCAAGAAGGTAAAAAATAG	0.323													G|||	1026	0.204872	0.2534	0.1614	5008	,	,		16505	0.1825		0.1948	False		,,,				2504	0.2035				.		Atlas-SNP	.											.	WDR67	97	.	0			c.2835+1G>T						PASS	.						36	37	37					8																	124154697		2202	4299	6501	SO:0001630	splice_region_variant	93594	exon19			AAGAAGGTAAAAA	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2835+1G>T	8.37:g.124154697G>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	84	41	0.488095	NM_145647	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	SNP	ENST00000287380.1	37	CCDS6338.1	458	0.2097069597069597	130	0.26422764227642276	51	0.1408839779005525	128	0.22377622377622378	149	0.19656992084432717	G	11.00	1.509071	0.27036	.	.	ENSG00000156787	ENST00000287380;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	rs10101626;rs17375320;rs57669972;rs10101626	.	.	.	.	-1	.	.	.	+	.	.	WDR67	124223878	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	6.243000	0.72384	2.529000	0.85273	0.471000	0.43371	.	G|0.784;T|0.216	0.216	strong		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	T	124154697	G	T	124154697	5	4	22	1	0	0	0	0	0	0	1	0	17315	1275	44	4	2910	4	WDR67	8	124154697	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15842	124154697	22209325	4921	10029										
ZHX1	11244	hgsc.bcm.edu	37	chr8	124265676	124265676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcaataacttcatcttcCtcctcattttcctcaaataa	0	13	6	0	rs34145851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124265676C>T	ENST00000522655.1	-	3	3051	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Silent_p.E837E|ZHX1_ENST00000297857.2_Silent_p.E837E			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	837	Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTCATCTTCCTCCTCATTTT	0.398													C|||	69	0.013778	0.0514	0.0014	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0				p.E837E		Atlas-SNP	.											ZHX1,NS,carcinoma,-2,1	ZHX1	89	1	0			c.G2511A						PASS	.	C	,,	194,4212	122.9+/-160.3	4,186,2013	210	202	205		2511,,2511	1.6	1	8	dbSNP_126	205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	ZHX1,ZHX1-C8ORF76	NM_001017926.2,NM_001204180.1,NM_007222.4	,,	4,187,6312	TT,TC,CC		0.0116,4.4031,1.4993	,,	837/874,,837/874	124265676	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	11244	exon3			ATCTTCCTCCTCA	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2511G>A	8.37:g.124265676C>T		Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	311	149	0.4791	NM_007222	Q8IWD8	Silent	SNP	ENST00000522655.1	37	CCDS6342.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	C	5.662	0.306815	0.10733	0.044031	1.16E-4	ENSG00000165156	ENST00000520474	.	.	.	5.95	1.57	0.23409	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09997	-1.0649	4	.	.	.	-14.7224	5.1468	0.14989	0.1123:0.5612:0.198:0.1285	rs34145851	.	.	.	K	522	.	.	R	-	2	0	ZHX1	124334857	0.995000	0.38212	0.997000	0.53966	0.983000	0.72400	0.381000	0.20619	0.384000	0.24942	0.491000	0.48974	AGG	C|0.986;T|0.014	0.014	strong		0.398	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			T	124265676	C	T	124265676	2	4	22	1	0	0	0	0	0	0	0	1	17672	680	24	2		2	ZHX1	8	124265676	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	110979	124265676	22098346	4922	10030										
ATAD2	29028	hgsc.bcm.edu	37	chr8	124357302	124357302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgttctcttagcttcaCgaatcacctagtagagagag	10	9	3	2	rs78548009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124357302C>T	ENST00000287394.5	-	19	2647	c.2540G>A	c.(2539-2541)cGt>cAt	p.R847H	RNU6-875P_ENST00000516488.1_RNA|MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.R165H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	847					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R847H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTAGCTTCACGAATCACCTA	0.398													C|||	7	0.00139776	0.0015	0.0	5008	,	,		17101	0.0		0.0	False		,,,				2504	0.0051				p.R847H		Atlas-SNP	.											ATAD2,NS,carcinoma,0,1	ATAD2	160	1	1	Substitution - Missense(1)	endometrium(1)	c.G2540A						PASS	.	C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	175	150	159		2540	4.7	1	8	dbSNP_131	159	0,8600		0,0,4300	yes	missense	ATAD2	NM_014109.3	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	847/1391	124357302	8,12998	2203	4300	6503	SO:0001583	missense	29028	exon19			GCTTCACGAATCA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2540G>A	8.37:g.124357302C>T	ENSP00000287394:p.Arg847His	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	19.10	3.761292	0.69763	0.001816	0.0	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82803	-1.65;-1.65	5.58	4.7	0.59300	.	0.888358	0.09837	N	0.749398	D	0.87783	0.6264	L	0.58101	1.795	0.37045	D	0.897316	D	0.63880	0.993	P	0.56514	0.8	D	0.85289	0.1066	10	0.46703	T	0.11	-4.8315	14.7146	0.69257	0.0:0.9301:0.0:0.0699	.	847	Q6PL18	ATAD2_HUMAN	H	847;165	ENSP00000287394:R847H;ENSP00000429213:R165H	ENSP00000287394:R847H	R	-	2	0	ATAD2	124426483	0.983000	0.35010	1.000000	0.80357	0.436000	0.31835	0.289000	0.18957	1.359000	0.45940	0.655000	0.94253	CGT	C|0.999;T|0.001	0.001	strong		0.398	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		T	124357302	C	T	124357302	3	4	22	1	0	0	0	0	1	0	0	0	1071	536	19	1	1672	1	ATAD2	8	124357302	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91626	124357302	22006720	4923	10031										
KLHL38	340359	hgsc.bcm.edu	37	chr8	124658203	124658203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgcatcctccggtcttTcatgtccgcacatttgacaa	8	12	2	1	rs72711231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124658203T>C	ENST00000325995.7	-	3	1545	c.1522A>G	c.(1522-1524)Aaa>Gaa	p.K508E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	508										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTCCGGTCTTTCATGTCCGCA	0.522													T|||	563	0.11242	0.0477	0.0692	5008	,	,		20602	0.2143		0.0348	False		,,,				2504	0.2055				p.K508E		Atlas-SNP	.											.	KLHL38	81	.	0			c.A1522G						PASS	.	T	GLU/LYS	171,4011		4,163,1924	83	91	88		1522	5.2	1	8	dbSNP_130	88	320,8144		8,304,3920	yes	missense	KLHL38	NM_001081675.2	56	12,467,5844	CC,CT,TT		3.7807,4.089,3.8827	possibly-damaging	508/582	124658203	491,12155	2091	4232	6323	SO:0001583	missense	340359	exon3			GGTCTTTCATGTC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1522A>G	8.37:g.124658203T>C	ENSP00000321475:p.Lys508Glu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	196	95	0.484694	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	204	0.09340659340659341	29	0.05894308943089431	21	0.058011049723756904	126	0.2202797202797203	28	0.036939313984168866	T	15.81	2.943702	0.53079	0.04089	0.037807	ENSG00000175946	ENST00000325995	T	0.66280	-0.2	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.137965	0.64402	D	0.000005	T	0.00039	0.0001	L	0.60455	1.87	0.21355	P	0.999710004	P	0.36789	0.57	B	0.35114	0.196	T	0.06162	-1.0842	9	0.23891	T	0.37	.	15.0289	0.71691	0.0:0.0:0.0:1.0	.	508	Q2WGJ6	KLH38_HUMAN	E	508	ENSP00000321475:K508E	ENSP00000321475:K508E	K	-	1	0	KLHL38	124727384	1.000000	0.71417	0.992000	0.48379	0.814000	0.46013	6.186000	0.72026	1.963000	0.57068	0.374000	0.22700	AAA	T|0.924;C|0.076	0.076	strong		0.522	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			C	124658203	T	C	124658203	3	2	22	1	0	0	0	0	1	0	0	0	8390	1792	62	2	227	2	KLHL38	8	124658203	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	300901	124658203	21705819	4924	10032										
KLHL38	340359	hgsc.bcm.edu	37	chr8	124663895	124663895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtctttcacagcgactgcGgggtggagcacccccacggg	15	13	2	0	rs16898689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124663895G>A	ENST00000325995.7	-	1	1295	c.1272C>T	c.(1270-1272)ccC>ccT	p.P424P	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	424										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CAGCGACTGCGGGGTGGAGCA	0.552													G|||	916	0.182907	0.2284	0.1311	5008	,	,		21736	0.2202		0.0686	False		,,,				2504	0.2372				p.P424P		Atlas-SNP	.											.	KLHL38	81	.	0			c.C1272T						PASS	.	G		754,3296		80,594,1351	94	93	94		1272	-0.5	1	8	dbSNP_123	94	568,7802		21,526,3638	no	coding-synonymous	KLHL38	NM_001081675.2		101,1120,4989	AA,AG,GG		6.7861,18.6173,10.6441		424/582	124663895	1322,11098	2025	4185	6210	SO:0001819	synonymous_variant	340359	exon1			GACTGCGGGGTGG		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1272C>T	8.37:g.124663895G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	86	47	0.546512	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																			G|0.857;A|0.143	0.143	strong		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			A	124663895	G	A	124663895	2	1	22	1	0	0	0	0	0	0	0	1	8390	1103	39	1		1	KLHL38	8	124663895	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5692	124663895	21700127	4925	10033										
KLHL38	340359	hgsc.bcm.edu	37	chr8	124663987	124663987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcccatgagctcctgccCttctccaatccccccgatgg	9	18	1	1	rs16898691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124663987C>G	ENST00000325995.7	-	1	1203	c.1180G>C	c.(1180-1182)Ggg>Cgg	p.G394R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	394			G -> R (in dbSNP:rs16898691).							breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTCCTGCCCTTCTCCAATC	0.602													C|||	583	0.116414	0.0461	0.0836	5008	,	,		21826	0.2192		0.0408	False		,,,				2504	0.2065				p.G394R		Atlas-SNP	.											.	KLHL38	81	.	0			c.G1180C						PASS	.	C	ARG/GLY	164,3860		4,156,1852	65	65	65		1180	3.2	0.8	8	dbSNP_123	65	370,7990		14,342,3824	yes	missense	KLHL38	NM_001081675.2	125	18,498,5676	GG,GC,CC		4.4258,4.0755,4.312	probably-damaging	394/582	124663987	534,11850	2012	4180	6192	SO:0001583	missense	340359	exon1			CCTGCCCTTCTCC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1180G>C	8.37:g.124663987C>G	ENSP00000321475:p.Gly394Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	74	41	0.554054	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	211	0.09661172161172162	25	0.0508130081300813	26	0.0718232044198895	128	0.22377622377622378	32	0.04221635883905013	C	10.04	1.240664	0.22711	0.040755	0.044258	ENSG00000175946	ENST00000325995	T	0.71103	-0.54	5.18	3.18	0.36537	Kelch-type beta propeller (1);	0.367273	0.33691	N	0.004655	T	0.00073	0.0002	L	0.49778	1.585	0.39734	P	0.02834700000000001	B	0.02656	0.0	B	0.06405	0.002	T	0.06935	-1.0799	9	0.72032	D	0.01	.	5.0825	0.14664	0.0:0.3131:0.0:0.6869	rs16898691;rs52812544;rs16898691	394	Q2WGJ6	KLH38_HUMAN	R	394	ENSP00000321475:G394R	ENSP00000321475:G394R	G	-	1	0	KLHL38	124733168	0.978000	0.34361	0.777000	0.31699	0.732000	0.41865	3.219000	0.51200	0.571000	0.29365	0.561000	0.74099	GGG	C|0.903;G|0.097	0.097	strong		0.602	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			G	124663987	C	G	124663987	3	3	22	1	0	0	0	0	1	0	0	0	8390	681	24	4	577	4	KLHL38	8	124663987	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92	124663987	21700035	4926	10034										
FER1L6	654463	hgsc.bcm.edu	37	chr8	124987404	124987404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacaggtcatcagttctgcAacaagtgggccctgctcaca	9	13	5	0	rs77810887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:124987404A>G	ENST00000522917.1	+	8	747	c.541A>G	c.(541-543)Aac>Gac	p.N181D	FER1L6_ENST00000399018.1_Missense_Mutation_p.N181D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	181						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCAGTTCTGCAACAAGTGGGC	0.557													G|||	75	0.014976	0.056	0.0014	5008	,	,		19342	0.0		0.0	False		,,,				2504	0.0				p.N181D		Atlas-SNP	.											.	FER1L6	268	.	0			c.A541G						PASS	.	G	ASP/ASN	198,3804		4,190,1807	93	91	92		541	5.5	1	8	dbSNP_131	92	0,8352		0,0,4176	yes	missense	FER1L6	NM_001039112.2	23	4,190,5983	GG,GA,AA		0.0,4.9475,1.6027	benign	181/1858	124987404	198,12156	2001	4176	6177	SO:0001583	missense	654463	exon8			TTCTGCAACAAGT	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.541A>G	8.37:g.124987404A>G	ENSP00000428280:p.Asn181Asp	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	288	150	0.520833	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	G	8.521	0.868834	0.17322	0.049475	0.0	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80480	-1.38;-1.38	5.5	5.5	0.81552	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.220886	0.37012	N	0.002292	T	0.24812	0.0602	N	0.10760	0.04	0.22342	N	0.999181	B	0.02656	0.0	B	0.06405	0.002	T	0.24404	-1.0161	10	0.28530	T	0.3	.	14.8757	0.70493	0.069:0.0:0.931:0.0	.	181	Q2WGJ9	FR1L6_HUMAN	D	181	ENSP00000428280:N181D;ENSP00000381982:N181D	ENSP00000381982:N181D	N	+	1	0	FER1L6	125056585	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.931000	0.40134	1.487000	0.48415	-0.215000	0.12644	AAC	A|0.988;G|0.012	0.012	strong		0.557	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		G	124987404	A	G	124987404	3	3	22	1	0	0	0	0	1	0	0	0	5815	130	5	2	567	2	FER1L6	8	124987404	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	323417	124987404	21376618	4927	10035										
TRMT12	55039	hgsc.bcm.edu	37	chr8	125463250	125463250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcagttgtgactgagcctTggtttacccagcgatacaga	11	10	0	3	rs3812475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:125463250T>C	ENST00000328599.3	+	1	203	c.82T>C	c.(82-84)Tgg>Cgg	p.W28R	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	28			W -> R (in dbSNP:rs3812475). {ECO:0000269|PubMed:15489334}.		tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACTGAGCCTTGGTTTACCCA	0.517													C|||	2860	0.571086	0.7814	0.4798	5008	,	,		18795	0.4415		0.495	False		,,,				2504	0.5634				p.W28R		Atlas-SNP	.											.	TRMT12	28	.	0			c.T82C						PASS	.	C	ARG/TRP	3061,1345	447.5+/-348.4	1073,915,215	123	128	126		82	5.2	0.9	8	dbSNP_107	126	4059,4541	595.1+/-393.4	942,2175,1183	yes	missense	TRMT12	NM_017956.3	101	2015,3090,1398	CC,CT,TT		47.1977,30.5266,45.256	benign	28/449	125463250	7120,5886	2203	4300	6503	SO:0001583	missense	55039	exon1			GAGCCTTGGTTTA	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.82T>C	8.37:g.125463250T>C	ENSP00000329858:p.Trp28Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_017956	Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	CCDS6349.1	1205	0.5517399267399268	394	0.8008130081300813	189	0.5220994475138122	242	0.4230769230769231	380	0.5013192612137203	C	0.456	-0.891521	0.02491	0.694734	0.471977	ENSG00000183665	ENST00000328599	T	0.38560	1.13	5.15	5.15	0.70609	.	0.426796	0.26563	N	0.023680	T	0.00012	0.0000	N	0.00128	-2.045	0.58432	P	9.99999999995449E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	9	0.02654	T	1	-11.5588	10.5383	0.45018	0.0:0.9086:0.0:0.0914	rs3812475;rs17856366;rs52807988;rs59731176;rs3812475	28	Q53H54	TYW2_HUMAN	R	28	ENSP00000329858:W28R	ENSP00000329858:W28R	W	+	1	0	TRMT12	125532431	0.468000	0.25839	0.923000	0.36655	0.456000	0.32438	0.518000	0.22847	1.515000	0.48885	-0.215000	0.12644	TGG	T|0.442;C|0.558	0.558	strong		0.517	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		C	125463250	T	C	125463250	3	2	22	1	0	0	0	0	1	0	0	0	16561	1812	63	2	84	2	TRMT12	8	125463250	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	475846	125463250	20900772	4928	10036										
TRMT12	55039	hgsc.bcm.edu	37	chr8	125463544	125463544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcaagtggtcagccgagTtggaggctgatttgccccga	15	9	2	1	rs11556913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:125463544T>C	ENST00000328599.3	+	1	497	c.376T>C	c.(376-378)Ttg>Ctg	p.L126L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	126					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCAGCCGAGTTGGAGGCTGA	0.542													T|||	948	0.189297	0.0696	0.3429	5008	,	,		20402	0.0982		0.3748	False		,,,				2504	0.1452				p.L126L		Atlas-SNP	.											.	TRMT12	28	.	0			c.T376C						PASS	.	T		541,3865	245.6+/-254.5	40,461,1702	69	68	68		376	-0.3	0.3	8	dbSNP_120	68	2994,5606	462.8+/-365.8	514,1966,1820	no	coding-synonymous	TRMT12	NM_017956.3		554,2427,3522	CC,CT,TT		34.814,12.2787,27.1798		126/449	125463544	3535,9471	2203	4300	6503	SO:0001819	synonymous_variant	55039	exon1			GCCGAGTTGGAGG	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.376T>C	8.37:g.125463544T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	136	78	0.573529	NM_017956	Q6PKB9|Q96F21|Q9NWK6	Silent	SNP	ENST00000328599.3	37	CCDS6349.1																																																																																			A|0.000;C|0.268;G|0.000;T|0.731	0.268	strong		0.542	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		C	125463544	T	C	125463544	2	2	22	1	0	0	0	0	0	0	0	1	16561	1722	60	2		2	TRMT12	8	125463544	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	294	125463544	20900478	4929	10037										
RNF139	83940	hgsc.bcm.edu	37	chr8	125498547	125498547	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcacatgtatcgaatttaCggattacagttattgatgga	10	5	0	1	rs3812471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:125498547C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.Y219Y|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATCGAATTTACGGATTACAGT	0.398													T|||	2859	0.570887	0.7912	0.4755	5008	,	,		22796	0.4355		0.494	False		,,,				2504	0.5593				p.Y219Y		Atlas-SNP	.											.	RNF139	57	.	0			c.C657T						PASS	.	T		3097,1309	439.6+/-345.7	1095,907,201	208	210	209		657	0.4	1	8	dbSNP_107	209	3997,4603	599.4+/-394.1	908,2181,1211	no	coding-synonymous	RNF139	NM_007218.3		2003,3088,1412	TT,TC,CC		46.4767,29.7095,45.4559		219/665	125498547	7094,5912	2203	4300	6503	SO:0001628	intergenic_variant	11236	exon2			AATTTACGGATTA	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498547C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	96	53	0.552083	NM_007218	B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	CCDS6351.1																																																																																			C|0.445;T|0.555	0.555	strong		0.398	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		T	125498547	C	T	125498547	1	4	22	0	1	0	0	0	0	0	0	0	13442	547	19	1		1	RNF139	8	125498547	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35003	125498547	20865475	4930	10038										
MTSS1	9788	hgsc.bcm.edu	37	chr8	125575047	125575047	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggggcctctggcggcatGggggatggtgacttggactg	20	7	1	1	rs16899702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:125575047G>T	ENST00000518547.1	-	10	1484	c.1011C>A	c.(1009-1011)ccC>ccA	p.P337P	MTSS1_ENST00000378017.3_Silent_p.P337P|MTSS1_ENST00000395508.2_Silent_p.P71P|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Silent_p.P341P|MTSS1_ENST00000431961.2_Silent_p.P137P|MTSS1_ENST00000354184.4_Silent_p.P137P|MTSS1_ENST00000524090.1_Silent_p.P227P	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	337	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGGCGGCATGGGGGATGGTG	0.607													G|||	305	0.0609026	0.2201	0.0144	5008	,	,		18723	0.001		0.003	False		,,,				2504	0.0				p.P337P	Esophageal Squamous(160;622 1893 3862 8546 12509)	Atlas-SNP	.											.	MTSS1	79	.	0			c.C1011A						PASS	.	G		702,3704	291.8+/-281.7	69,564,1570	58	55	56		1011	-1	1	8	dbSNP_123	56	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	MTSS1	NM_014751.4		69,583,5851	TT,TG,GG		0.2209,15.9328,5.5436		337/756	125575047	721,12285	2203	4300	6503	SO:0001819	synonymous_variant	9788	exon10			CGGCATGGGGGAT	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1011C>A	8.37:g.125575047G>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	93	50	0.537634	NM_014751	J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	CCDS6353.1	116	0.05311355311355311	107	0.21747967479674796	8	0.022099447513812154	1	0.0017482517482517483	0	0.0	G	1.045	-0.677528	0.03378	0.159328	0.002209	ENSG00000170873	ENST00000519168;ENST00000523179	.	.	.	5.6	-0.986	0.10252	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.26780	-1.0093	3	.	.	.	-14.8982	2.3089	0.04181	0.1747:0.1927:0.435:0.1977	rs16899702;rs16899702	.	.	.	N	85;185	.	.	H	-	1	0	MTSS1	125644228	0.683000	0.27633	0.995000	0.50966	0.047000	0.14425	-0.264000	0.08658	-0.095000	0.12351	-0.156000	0.13503	CAT	G|0.936;T|0.064	0.064	strong		0.607	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		T	125575047	G	T	125575047	2	4	22	1	0	0	0	0	0	0	0	1	9962	1335	47	4		4	MTSS1	8	125575047	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76500	125575047	20788975	4931	10039										
KIAA0196	9897	hgsc.bcm.edu	37	chr8	126079867	126079867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcaaattgtgcagtatcTaacagcagctggaagaggat	10	7	2	1	rs10429323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:126079867T>C	ENST00000318410.7	-	10	1594	c.1245A>G	c.(1243-1245)ttA>ttG	p.L415L	KIAA0196_ENST00000517845.1_Silent_p.L267L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	415					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTGCAGTATCTAACAGCAGCT	0.358													C|||	160	0.0319489	0.1157	0.0101	5008	,	,		15835	0.0		0.0	False		,,,				2504	0.0				p.L415L		Atlas-SNP	.											.	KIAA0196	90	.	0			c.A1245G						PASS	.	C		358,4048	793.9+/-415.2	17,324,1862	166	155	158		1245	4.7	1	8	dbSNP_119	158	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	KIAA0196	NM_014846.3		17,325,6161	CC,CT,TT		0.0116,8.1253,2.7603		415/1160	126079867	359,12647	2203	4300	6503	SO:0001819	synonymous_variant	9897	exon10			AGTATCTAACAGC		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1245A>G	8.37:g.126079867T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	150	72	0.48	NM_014846	A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	CCDS6355.1	51	0.023351648351648352	45	0.09146341463414634	6	0.016574585635359115	0	0.0	0	0.0	C	8.635	0.894613	0.17613	0.081253	1.16E-4	ENSG00000164961	ENST00000523273	.	.	.	5.61	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6356	10.9586	0.47372	0.1293:0.8033:0.0:0.0675	rs10429323;rs10429323	.	.	.	W	32	.	.	X	-	2	0	KIAA0196	126149049	0.998000	0.40836	0.996000	0.52242	0.751000	0.42716	0.645000	0.24782	1.393000	0.46605	-0.320000	0.08662	TAG	T|0.971;C|0.029	0.029	strong		0.358	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		C	126079867	T	C	126079867	2	2	22	1	0	0	0	0	0	0	0	1	8161	1519	53	3		3	KIAA0196	8	126079867	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	504820	126079867	20284155	4932	10040										
KIAA0196	9897	hgsc.bcm.edu	37	chr8	126087351	126087351	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccccatgtaaatactaatTacctgaaagaggagacattc	6	9	0	3	rs79464415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:126087351T>G	ENST00000318410.7	-	8	1216	c.867A>C	c.(865-867)gtA>gtC	p.V289V	KIAA0196_ENST00000517845.1_Silent_p.V141V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	289					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATACTAATTACCTGAAAGA	0.363													T|||	36	0.0071885	0.0272	0.0	5008	,	,		18432	0.0		0.0	False		,,,				2504	0.0				p.V289V		Atlas-SNP	.											.	KIAA0196	90	.	0			c.A867C						PASS	.	T		72,4334	64.7+/-102.0	0,72,2131	106	106	106		867	-3.3	1	8	dbSNP_131	106	1,8599		0,1,4299	no	coding-synonymous	KIAA0196	NM_014846.3		0,73,6430	GG,GT,TT		0.0116,1.6341,0.5613		289/1160	126087351	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	9897	exon8			ACTAATTACCTGA		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.867A>C	8.37:g.126087351T>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	71	39	0.549296	NM_014846	A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	CCDS6355.1																																																																																			T|0.994;G|0.006	0.006	strong		0.363	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		G	126087351	T	G	126087351	2	3	22	1	0	0	0	0	0	0	0	1	8161	1741	61	5		5	KIAA0196	8	126087351	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7484	126087351	20276671	4933	10041										
TRIB1	10221	hgsc.bcm.edu	37	chr8	126448674	126448674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaccagattgttccagaGtaccaggaggacagtgacat	11	9	1	4	rs16900603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:126448674G>T	ENST00000519576.1	+	2	650	c.387G>T	c.(385-387)gaG>gaT	p.E129D	TRIB1_ENST00000311922.3_Missense_Mutation_p.E360D|TRIB1_ENST00000520847.1_Missense_Mutation_p.E194D					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTGTTCCAGAGTACCAGGAGG	0.473													G|||	147	0.029353	0.1051	0.0101	5008	,	,		20227	0.0		0.001	False		,,,				2504	0.0				p.E360D		Atlas-SNP	.											.	TRIB1	73	.	0			c.G1080T						PASS	.	G	ASP/GLU	353,4053	181.5+/-209.5	15,323,1865	83	85	84		1080	2.7	1	8	dbSNP_123	84	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TRIB1	NM_025195.2	45	15,327,6161	TT,TG,GG		0.0465,8.0118,2.7449	benign	360/373	126448674	357,12649	2203	4300	6503	SO:0001583	missense	10221	exon3			TCCAGAGTACCAG	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.387G>T	8.37:g.126448674G>T	ENSP00000428879:p.Glu129Asp	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	134	75	0.559702	NM_025195		Missense_Mutation	SNP	ENST00000519576.1	37		39	0.017857142857142856	35	0.07113821138211382	4	0.011049723756906077	0	0.0	0	0.0	G	0.601	-0.829096	0.02734	0.080118	4.65E-4	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.47177	0.88;0.85;1.12	5.88	2.65	0.31530	.	0.241181	0.21003	N	0.081838	T	0.00936	0.0031	N	0.08118	0	0.23903	N	0.996519	B	0.11235	0.004	B	0.10450	0.005	T	0.17410	-1.0370	10	0.02654	T	1	-15.0092	5.2841	0.15692	0.0985:0.2463:0.5295:0.1257	rs16900603;rs52815805;rs16900603	360	Q96RU8	TRIB1_HUMAN	D	360;194;129	ENSP00000312150:E360D;ENSP00000429063:E194D;ENSP00000428879:E129D	ENSP00000312150:E360D	E	+	3	2	TRIB1	126517856	0.026000	0.19158	0.998000	0.56505	0.850000	0.48378	-0.005000	0.12855	0.811000	0.34303	-0.305000	0.09177	GAG	G|0.974;T|0.026	0.026	strong		0.473	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		T	126448674	G	T	126448674	3	4	22	1	0	0	0	0	1	0	0	0	16479	1020	36	4	1090	4	TRIB1	8	126448674	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	361323	126448674	19915348	4934	10042										
POU5F1B	5462	hgsc.bcm.edu	37	chr8	128428592	128428592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagaagaggatcaccctgGgatatacacaggccgatgtg	13	9	1	2	rs140000439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:128428592G>A	ENST00000465342.2	+	2	1638	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POU5F1B_ENST00000391675.1_Missense_Mutation_p.G161R|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	161	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GATCACCCTGGGATATACACA	0.522													g|||	78	0.0155751	0.053	0.0115	5008	,	,		17902	0.0		0.0	False		,,,				2504	0.0				p.G161R		Atlas-SNP	.											.	POU5F1B	32	.	0			c.G481A						PASS	.	G	ARG/GLY	73,1311		2,69,621	47	54	52		481	1.1	0.8	8	dbSNP_134	52	0,3182		0,0,1591	no	missense	POU5F1B	NM_001159542.1	125	2,69,2212	AA,AG,GG		0.0,5.2746,1.5988	probably-damaging	161/360	128428592	73,4493	692	1591	2283	SO:0001583	missense	5462	exon1			ACCCTGGGATATA	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.481G>A	8.37:g.128428592G>A	ENSP00000419298:p.Gly161Arg	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	161	81	0.503106	NM_001159542	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	CCDS55274.1	32	0.014652014652014652	28	0.056910569105691054	4	0.011049723756906077	0	0.0	0	0.0	G	23.4	4.412629	0.83340	0.052746	0.0	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.77877	-1.13;-1.13	1.14	1.14	0.20703	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.40144	N	0.001164	T	0.50137	0.1598	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74328	-0.3701	10	0.87932	D	0	.	8.3083	0.32055	0.0:0.0:1.0:0.0	.	161	Q06416	P5F1B_HUMAN	R	161	ENSP00000419298:G161R;ENSP00000375557:G161R	ENSP00000375557:G161R	G	+	1	0	POU5F1B	128497774	1.000000	0.71417	0.759000	0.31340	0.727000	0.41649	6.555000	0.73928	0.968000	0.38212	0.134000	0.15878	GGA	G|0.985;A|0.015	0.015	strong		0.522	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		A	128428592	G	A	128428592	3	1	22	1	0	0	0	0	1	0	0	0	12282	1233	43	2	483	2	POU5F1B	8	128428592	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1979918	128428592	17935430	4935	10043										
POU5F1B	5462	hgsc.bcm.edu	37	chr8	128428721	128428721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtaagctgcggcccttgCtgcagaagtgggtggaggaa	17	7	0	1	rs192151034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:128428721C>T	ENST00000465342.2	+	2	1767	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	POU5F1B_ENST00000391675.1_Silent_p.L204L|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	204	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GCGGCCCTTGCTGCAGAAGTG	0.502													c|||	78	0.0155751	0.053	0.0115	5008	,	,		19515	0.0		0.0	False		,,,				2504	0.0				p.L204L		Atlas-SNP	.											.	POU5F1B	32	.	0			c.C610T						PASS	.	C		73,1311		2,69,621	17	21	20		610	1.1	0.8	8		20	0,3180		0,0,1590	no	coding-synonymous	POU5F1B	NM_001159542.1		2,69,2211	TT,TC,CC		0.0,5.2746,1.5995		204/360	128428721	73,4491	692	1590	2282	SO:0001819	synonymous_variant	5462	exon1			CCCTTGCTGCAGA	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.610C>T	8.37:g.128428721C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	159	86	0.540881	NM_001159542	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																			C|0.985;T|0.015	0.015	strong		0.502	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		T	128428721	C	T	128428721	2	4	22	1	0	0	0	0	0	0	0	1	12282	796	28	2		2	POU5F1B	8	128428721	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129	128428721	17935301	4936	10044										
GSDMC	56169	hgsc.bcm.edu	37	chr8	130760850	130760850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctggggttatccagctccAtcctaaggccacactcctcc	7	17	0	0	rs4144738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:130760850A>G	ENST00000276708.4	-	14	2305	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	475			M -> T (in dbSNP:rs4144738). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.M475T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATCCAGCTCCATCCTAAGGCC	0.587													A|||	3542	0.707268	0.9402	0.6427	5008	,	,		20453	0.744		0.4702	False		,,,				2504	0.6442				p.M475T		Atlas-SNP	.											GSDMC,NS,carcinoma,0,1	GSDMC	71	1	1	Substitution - Missense(1)	stomach(1)	c.T1424C						PASS	.	A	THR/MET	3853,553	776.1+/-414.1	1694,465,44	107	98	101		1424	4.7	0	8	dbSNP_110	101	3920,4680	547.3+/-385.1	909,2102,1289	yes	missense	GSDMC	NM_031415.2	81	2603,2567,1333	GG,GA,AA		45.5814,12.5511,40.2353	possibly-damaging	475/509	130760850	7773,5233	2203	4300	6503	SO:0001583	missense	56169	exon14			AGCTCCATCCTAA	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1424T>C	8.37:g.130760850A>G	ENSP00000276708:p.Met475Thr	Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	176	176	1	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	1444	0.6611721611721612	456	0.926829268292683	226	0.6243093922651933	411	0.7185314685314685	351	0.4630606860158311	A	15.34	2.805191	0.50315	0.874489	0.455814	ENSG00000147697	ENST00000276708	T	0.24350	1.86	4.72	4.72	0.59763	.	0.534882	0.19047	N	0.124142	T	0.00012	0.0000	M	0.63843	1.955	0.80722	P	0.0	D	0.69078	0.997	D	0.65233	0.933	T	0.02081	-1.1217	9	0.87932	D	0	.	10.5105	0.44860	1.0:0.0:0.0:0.0	rs4144738;rs17855854;rs52804384;rs61422280;rs4144738	475	Q9BYG8	GSDMC_HUMAN	T	475	ENSP00000276708:M475T	ENSP00000276708:M475T	M	-	2	0	GSDMC	130830032	0.005000	0.15991	0.005000	0.12908	0.172000	0.22775	2.231000	0.43009	1.997000	0.58415	0.477000	0.44152	ATG	A|0.363;G|0.637	0.637	strong		0.587	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			G	130760850	A	G	130760850	3	3	22	1	0	0	0	0	1	0	0	0	6818	217	8	2	106	2	GSDMC	8	130760850	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2332129	130760850	15603172	4937	10045										
GSDMC	56169	hgsc.bcm.edu	37	chr8	130762324	130762324	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagtttctttaggatggcAccaccagggccatccaaatg	10	10	1	1	rs35085916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:130762324A>G	ENST00000276708.4	-	12	2006	c.1125T>C	c.(1123-1125)ggT>ggC	p.G375G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	375						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTAGGATGGCACCACCAGGGC	0.368													A|||	87	0.0173722	0.0628	0.0058	5008	,	,		18988	0.0		0.0	False		,,,				2504	0.0				p.G375G		Atlas-SNP	.											.	GSDMC	71	.	0			c.T1125C						PASS	.	A		286,4120	153.3+/-186.9	9,268,1926	36	36	36		1125	0.7	0	8	dbSNP_126	36	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GSDMC	NM_031415.2		9,272,6222	GG,GA,AA		0.0465,6.4911,2.2297		375/509	130762324	290,12716	2203	4300	6503	SO:0001819	synonymous_variant	56169	exon12			GATGGCACCACCA	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1125T>C	8.37:g.130762324A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	111	67	0.603604	NM_031415	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																			A|0.981;G|0.019	0.019	strong		0.368	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			G	130762324	A	G	130762324	2	3	22	1	0	0	0	0	0	0	0	1	6818	146	6	2		2	GSDMC	8	130762324	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1474	130762324	15601698	4938	10046										
GSDMC	56169	hgsc.bcm.edu	37	chr8	130762732	130762732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcatggccaggatactgTagaacatgacatcctgaaca	10	9	0	4	rs76700535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:130762732T>C	ENST00000276708.4	-	11	1909	c.1028A>G	c.(1027-1029)tAc>tGc	p.Y343C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	343						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGGATACTGTAGAACATGAC	0.473													T|||	53	0.0105831	0.0393	0.0014	5008	,	,		20490	0.0		0.0	False		,,,				2504	0.0				p.Y343C		Atlas-SNP	.											.	GSDMC	71	.	0			c.A1028G						PASS	.	T	CYS/TYR	190,4216	120.0+/-157.7	6,178,2019	136	119	125		1028	-4	0	8	dbSNP_131	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GSDMC	NM_031415.2	194	6,179,6318	CC,CT,TT		0.0116,4.3123,1.4686	probably-damaging	343/509	130762732	191,12815	2203	4300	6503	SO:0001583	missense	56169	exon11			ATACTGTAGAACA	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1028A>G	8.37:g.130762732T>C	ENSP00000276708:p.Tyr343Cys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	117	47	0.401709	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	25	0.011446886446886446	25	0.0508130081300813	0	0.0	0	0.0	0	0.0	T	9.583	1.124120	0.20959	0.043123	1.16E-4	ENSG00000147697	ENST00000276708	T	0.22134	1.97	5.14	-4.01	0.04045	.	1.565630	0.03508	N	0.219111	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.55667	0.781	T	0.12993	-1.0526	10	0.38643	T	0.18	.	8.1941	0.31385	0.0:0.1621:0.5701:0.2678	.	343	Q9BYG8	GSDMC_HUMAN	C	343	ENSP00000276708:Y343C	ENSP00000276708:Y343C	Y	-	2	0	GSDMC	130831914	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.577000	0.05847	-0.432000	0.07297	-0.389000	0.06534	TAC	T|0.985;C|0.015	0.015	strong		0.473	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			C	130762732	T	C	130762732	3	2	22	1	0	0	0	0	1	0	0	0	6818	1638	57	2	514	2	GSDMC	8	130762732	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	408	130762732	15601290	4939	10047										
ADCY8	114	hgsc.bcm.edu	37	chr8	132002770	132002770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgttcatacacatgaataGcactgcctgggccacaacct	8	12	1	1	rs2228950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:132002770G>A	ENST00000286355.5	-	2	3071	c.979C>T	c.(979-981)Cta>Tta	p.L327L	ADCY8_ENST00000377928.3_Silent_p.L327L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	327					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACATGAATAGCACTGCCTGG	0.448										HNSCC(32;0.087)			A|||	1554	0.310304	0.6921	0.2291	5008	,	,		19148	0.0774		0.168	False		,,,				2504	0.2382				p.L327L		Atlas-SNP	.											.	ADCY8	291	.	0			c.C979T						PASS	.	A		2766,1640	502.9+/-365.4	890,986,327	110	119	116		979	-1.1	0	8	dbSNP_121	116	1399,7201	753.6+/-407.5	116,1167,3017	no	coding-synonymous	ADCY8	NM_001115.2		1006,2153,3344	AA,AG,GG		16.2674,37.222,32.0237		327/1252	132002770	4165,8841	2203	4300	6503	SO:0001819	synonymous_variant	114	exon2			TGAATAGCACTGC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.979C>T	8.37:g.132002770G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	63	36	0.571429	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																			G|0.701;A|0.299	0.299	strong		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	132002770	G	A	132002770	2	1	22	1	0	0	0	0	0	0	0	1	300	962	34	2		2	ADCY8	8	132002770	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1240038	132002770	14361252	4940	10048										
OC90	729330	hgsc.bcm.edu	37	chr8	133036743	133036743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatctatcttccatgaagAggcccgatccccaagggacc	10	14	2	2	rs11991659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133036743A>G	ENST00000443356.2	-	15	1553	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	OC90_ENST00000603859.1_Silent_p.P473P|OC90_ENST00000254627.3_Silent_p.P473P|OC90_ENST00000262283.5_Silent_p.P685P			Q02509	OC90_HUMAN	otoconin 90	489					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCCATGAAGAGGCCCGATCC	0.577													G|||	252	0.0503195	0.174	0.013	5008	,	,		19645	0.002		0.008	False		,,,				2504	0.0031				p.P473P		Atlas-SNP	.											OC90_ENST00000262283,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,2	OC90	163	2	0			c.T1419C						PASS	.	G		470,3414		23,424,1495	23	26	25		1419	0.9	0	8	dbSNP_120	25	67,8215		1,65,4075	no	coding-synonymous	OC90	NM_001080399.2		24,489,5570	GG,GA,AA		0.809,12.1009,4.4139		473/478	133036743	537,11629	1942	4141	6083	SO:0001819	synonymous_variant	729330	exon14			ATGAAGAGGCCCG	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1467T>C	8.37:g.133036743A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	34	20	0.588235	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																				A|0.952;G|0.048	0.048	strong		0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		G	133036743	A	G	133036743	2	3	22	1	0	0	0	0	0	0	0	1	10814	291	11	3		3	OC90	8	133036743	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1033973	133036743	13327279	4941	10049										
OC90	729330	hgsc.bcm.edu	37	chr8	133044172	133044172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttccttcttgtccacaGtaacagccataagactcaaa	4	14	3	1	rs6989686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133044172G>A	ENST00000443356.2	-	13	1121	c.1035C>T	c.(1033-1035)taC>taT	p.Y345Y	OC90_ENST00000603859.1_Silent_p.Y329Y|OC90_ENST00000254627.3_Silent_p.Y329Y|OC90_ENST00000262283.5_Silent_p.Y541Y			Q02509	OC90_HUMAN	otoconin 90	345	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTGTCCACAGTAACAGCCAT	0.542													G|||	45	0.00898562	0.0325	0.0029	5008	,	,		19082	0.0		0.0	False		,,,				2504	0.0				p.Y329Y		Atlas-SNP	.											.	OC90	163	.	0			c.C987T						PASS	.	G		111,3919		1,109,1905	57	60	59		987	4.1	1	8	dbSNP_116	59	1,8369		0,1,4184	no	coding-synonymous	OC90	NM_001080399.2		1,110,6089	AA,AG,GG		0.0119,2.7543,0.9032		329/478	133044172	112,12288	2015	4185	6200	SO:0001819	synonymous_variant	729330	exon12			TCCACAGTAACAG	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1035C>T	8.37:g.133044172G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	144	65	0.451389	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																				G|0.994;A|0.006	0.006	strong		0.542	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		A	133044172	G	A	133044172	2	1	22	1	0	0	0	0	0	0	0	1	10814	1024	36	2		2	OC90	8	133044172	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7429	133044172	13319850	4942	10050										
OC90	729330	hgsc.bcm.edu	37	chr8	133053909	133053909	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacagggaaattggtgaaGacagcctgcagccaggtgaa	14	8	0	3	rs115883855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133053909G>C	ENST00000443356.2	-	5	293	c.207C>G	c.(205-207)gtC>gtG	p.V69V	OC90_ENST00000603859.1_Silent_p.V69V|OC90_ENST00000254627.3_Silent_p.V69V|OC90_ENST00000262283.5_Silent_p.V265V			Q02509	OC90_HUMAN	otoconin 90	69					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AATTGGTGAAGACAGCCTGCA	0.577													G|||	53	0.0105831	0.0386	0.0029	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0				p.V69V		Atlas-SNP	.											OC90_ENST00000262283,caecum,carcinoma,0,2	OC90	163	2	0			c.C207G						PASS	.	G		121,3849		1,119,1865	33	33	33		207	2.8	1	8	dbSNP_132	33	0,8330		0,0,4165	no	coding-synonymous	OC90	NM_001080399.2		1,119,6030	CC,CG,GG		0.0,3.0479,0.9837		69/478	133053909	121,12179	1985	4165	6150	SO:0001819	synonymous_variant	729330	exon5			GGTGAAGACAGCC	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.207C>G	8.37:g.133053909G>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	139	70	0.503597	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																				G|0.989;C|0.011	0.011	strong		0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		C	133053909	G	C	133053909	2	2	22	1	0	0	0	0	0	0	0	1	10814	929	33	4		4	OC90	8	133053909	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9737	133053909	13310113	4943	10051										
LRRC6	23639	hgsc.bcm.edu	37	chr8	133637659	133637659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttgtgttgtgttcctctGtgtctggtgcctgtaggtgg	14	7	3	0	rs2293979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133637659G>A	ENST00000519595.1	-	6	793	c.695C>T	c.(694-696)aCa>aTa	p.T232I	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.T232I|LRRC6_ENST00000518642.1_Missense_Mutation_p.T232I			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	232			T -> I (in dbSNP:rs2293979). {ECO:0000269|Ref.1}.		cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGTTCCTCTGTGTCTGGTGC	0.378													A|||	2435	0.486222	0.8956	0.3199	5008	,	,		18056	0.2827		0.3777	False		,,,				2504	0.3722				p.T232I		Atlas-SNP	.											.	LRRC6	58	.	0			c.C695T						PASS	.	A	ILE/THR	3606,800	317.7+/-295.3	1479,648,76	182	180	181		695	-9.6	0	8	dbSNP_100	181	3654,4946	623.5+/-397.5	777,2100,1423	yes	missense	LRRC6	NM_012472.3	89	2256,2748,1499	AA,AG,GG		42.4884,18.1571,44.1796	benign	232/467	133637659	7260,5746	2203	4300	6503	SO:0001583	missense	23639	exon6			TCCTCTGTGTCTG	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.695C>T	8.37:g.133637659G>A	ENSP00000429791:p.Thr232Ile	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	210	210	1	NM_012472	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		1002	0.45879120879120877	428	0.8699186991869918	133	0.3674033149171271	141	0.2465034965034965	300	0.39577836411609496	A	6.833	0.522900	0.13066	0.818429	0.424884	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.53640	0.76;0.61;0.76	5.07	-9.57	0.00562	.	1.367430	0.04086	N	0.310545	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	9	0.33940	T	0.23	0.3719	2.7647	0.05317	0.2794:0.1688:0.3852:0.1666	rs2293979;rs17605638;rs52821378;rs59765270;rs2293979	232	Q86X45	LRRC6_HUMAN	I	232	ENSP00000429791:T232I;ENSP00000428610:T232I;ENSP00000250173:T232I	ENSP00000250173:T232I	T	-	2	0	LRRC6	133706841	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.791000	0.00767	-2.791000	0.00356	-3.279000	0.00047	ACA	G|0.487;A|0.513	0.513	strong		0.378	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		A	133637659	G	A	133637659	3	1	22	1	0	0	0	0	1	0	0	0	9016	1377	48	2	733	2	LRRC6	8	133637659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	583750	133637659	12726363	4944	10052										
TG	7038	hgsc.bcm.edu	37	chr8	133881996	133881996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtccagtgccagaacgacGgccgctcctgctggtgtgtg	14	13	0	1	rs116340633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133881996G>A	ENST00000220616.4	+	3	239	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	TG_ENST00000377869.1_Missense_Mutation_p.G67S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	67	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGAACGACGGCCGCTCCTG	0.642													G|||	26	0.00519169	0.0106	0.0	5008	,	,		15975	0.0		0.0119	False		,,,				2504	0.0				p.G67S		Atlas-SNP	.											.	TG	416	.	0			c.G199A						PASS	.	G	SER/GLY	51,4355	52.3+/-87.9	0,51,2152	59	55	57		199	4.5	0.1	8	dbSNP_132	57	82,8518	47.2+/-106.3	0,82,4218	yes	missense	TG	NM_003235.4	56	0,133,6370	AA,AG,GG		0.9535,1.1575,1.0226	probably-damaging	67/2769	133881996	133,12873	2203	4300	6503	SO:0001583	missense	7038	exon3			AACGACGGCCGCT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.199G>A	8.37:g.133881996G>A	ENSP00000220616:p.Gly67Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	75	48	0.64	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	16	0.007326007326007326	4	0.008130081300813009	0	0.0	0	0.0	12	0.0158311345646438	G	27.6	4.849775	0.91277	0.011575	0.009535	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62232	0.04;0.04	5.44	4.51	0.55191	Thyroglobulin type-1 (6);	0.205829	0.34314	N	0.004066	T	0.52092	0.1713	L	0.39245	1.2	0.32812	D	0.501558	D	0.76494	0.999	P	0.62435	0.902	T	0.69243	-0.5196	10	0.46703	T	0.11	.	13.1275	0.59364	0.0:0.1603:0.8397:0.0	.	67	P01266	THYG_HUMAN	S	67	ENSP00000367100:G67S;ENSP00000220616:G67S	ENSP00000220616:G67S	G	+	1	0	TG	133951178	0.998000	0.40836	0.098000	0.21074	0.191000	0.23601	2.801000	0.47908	2.550000	0.86006	0.462000	0.41574	GGC	G|0.992;A|0.008	0.008	strong		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133881996	G	A	133881996	3	1	22	1	0	0	0	0	1	0	0	0	15810	1116	39	1	209	1	TG	8	133881996	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	244337	133881996	12482026	4945	10053										
TG	7038	hgsc.bcm.edu	37	chr8	133898949	133898949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcttctcaaagaagccatCcgagcaatttttccctcccg	5	14	2	1	rs61741629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133898949C>T	ENST00000220616.4	+	9	1372	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	TG_ENST00000377869.1_Silent_p.I444I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	444					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGAAGCCATCCGAGCAATTT	0.502													C|||	124	0.0247604	0.0923	0.0029	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.0				p.I444I		Atlas-SNP	.											.	TG	416	.	0			c.C1332T						PASS	.	C		332,4074	169.1+/-199.8	19,294,1890	73	80	78		1332	-1	0	8	dbSNP_129	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		19,296,6188	TT,TC,CC		0.0233,7.5352,2.568		444/2769	133898949	334,12672	2203	4300	6503	SO:0001819	synonymous_variant	7038	exon9			AGCCATCCGAGCA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1332C>T	8.37:g.133898949C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	68	42	0.617647	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																			C|0.971;T|0.029	0.029	strong		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133898949	C	T	133898949	2	4	22	1	0	0	0	0	0	0	0	1	15810	845	30	2		2	TG	8	133898949	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16953	133898949	12465073	4946	10054										
TG	7038	hgsc.bcm.edu	37	chr8	133899438	133899438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtactcagctcccagacCtgtgagcagacacctgaaag	10	13	1	4	rs61742713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133899438C>T	ENST00000220616.4	+	9	1861	c.1821C>T	c.(1819-1821)acC>acT	p.T607T	TG_ENST00000377869.1_Silent_p.T607T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	607	Thyroglobulin type-1 5. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCCCAGACCTGTGAGCAGA	0.473													C|||	108	0.0215655	0.0802	0.0029	5008	,	,		21407	0.0		0.0	False		,,,				2504	0.0				p.T607T		Atlas-SNP	.											.	TG	416	.	0			c.C1821T						PASS	.	C		290,4116	160.0+/-192.4	12,266,1925	148	132	137		1821	5	0.7	8	dbSNP_129	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		12,268,6223	TT,TC,CC		0.0233,6.5819,2.2451		607/2769	133899438	292,12714	2203	4300	6503	SO:0001819	synonymous_variant	7038	exon9			CCAGACCTGTGAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1821C>T	8.37:g.133899438C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	149	77	0.516779	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																			C|0.974;T|0.026	0.026	strong		0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133899438	C	T	133899438	2	4	22	1	0	0	0	0	0	0	0	1	15810	668	24	2		2	TG	8	133899438	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	489	133899438	12464584	4947	10055										
TG	7038	hgsc.bcm.edu	37	chr8	133900495	133900495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacagagaagcagcttccGgaaacttcagtctctttatt	8	10	2	1	rs16904774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133900495G>A	ENST00000220616.4	+	10	2483	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	TG_ENST00000377869.1_Missense_Mutation_p.G815R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	815	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.		G -> R (in dbSNP:rs16904774).		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGCTTCCGGAAACTTCAG	0.512													G|||	258	0.0515176	0.1029	0.013	5008	,	,		19104	0.0883		0.0119	False		,,,				2504	0.0123				p.G815R		Atlas-SNP	.											.	TG	416	.	0			c.G2443A						PASS	.	G	ARG/GLY	400,4006	197.7+/-221.8	24,352,1827	74	71	72		2443	-1.2	0	8	dbSNP_123	72	16,8584	11.2+/-40.8	0,16,4284	yes	missense	TG	NM_003235.4	125	24,368,6111	AA,AG,GG		0.186,9.0785,3.1985	benign	815/2769	133900495	416,12590	2203	4300	6503	SO:0001583	missense	7038	exon10			GCTTCCGGAAACT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2443G>A	8.37:g.133900495G>A	ENSP00000220616:p.Gly815Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	138	60	0.434783	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	112	0.05128205128205128	51	0.10365853658536585	4	0.011049723756906077	45	0.07867132867132867	12	0.0158311345646438	G	0.299	-0.975229	0.02215	0.090785	0.00186	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62232	0.04;0.04	5.8	-1.19	0.09585	Thyroglobulin type-1 (2);	1.905200	0.02188	N	0.061091	T	0.01254	0.0041	N	0.13043	0.29	0.80722	P	0.0	B	0.15719	0.014	B	0.06405	0.002	T	0.14035	-1.0487	9	0.05721	T	0.95	.	8.1648	0.31220	0.5175:0.1056:0.3769:0.0	rs16904774;rs52835748;rs16904774	815	P01266	THYG_HUMAN	R	815	ENSP00000367100:G815R;ENSP00000220616:G815R	ENSP00000220616:G815R	G	+	1	0	TG	133969677	0.000000	0.05858	0.011000	0.14972	0.589000	0.36550	-0.692000	0.05127	-0.596000	0.05821	0.650000	0.86243	GGA	G|0.957;A|0.043	0.043	strong		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133900495	G	A	133900495	3	1	22	1	0	0	0	0	1	0	0	0	15810	1117	39	1	2481	1	TG	8	133900495	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1057	133900495	12463527	4948	10056										
TG	7038	hgsc.bcm.edu	37	chr8	133906136	133906136	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcgcggagcagtttctgcGtgggagtgattacgccattc	13	9	1	1	rs16893332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133906136G>C	ENST00000220616.4	+	11	3003	c.2963G>C	c.(2962-2964)cGt>cCt	p.R988P	TG_ENST00000377869.1_Missense_Mutation_p.R988P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	988	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> P (in dbSNP:rs16893332).		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTTTCTGCGTGGGAGTGAT	0.577													g|||	277	0.0553115	0.1036	0.013	5008	,	,		18344	0.1052		0.0119	False		,,,				2504	0.0133				p.R988P		Atlas-SNP	.											.	TG	416	.	0			c.G2963C						PASS	.		PRO/ARG	400,4006	196.0+/-220.5	28,344,1831	67	63	64		2963	-0.2	0.1	8	dbSNP_123	64	16,8584	11.2+/-40.8	0,16,4284	no	missense	TG	NM_003235.4	103	28,360,6115	CC,CG,GG		0.186,9.0785,3.1985	benign	988/2769	133906136	416,12590	2203	4300	6503	SO:0001583	missense	7038	exon11			TTCTGCGTGGGAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2963G>C	8.37:g.133906136G>C	ENSP00000220616:p.Arg988Pro	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	173	82	0.473988	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	117	0.05357142857142857	54	0.10975609756097561	5	0.013812154696132596	46	0.08041958041958042	12	0.0158311345646438	g	11.38	1.621796	0.28889	0.090785	0.00186	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.60548	0.18;0.18	5.14	-0.246	0.13022	Thyroglobulin type-1 (1);	1.557920	0.03552	N	0.225609	T	0.00845	0.0028	L	0.36672	1.1	0.80722	P	0.0	P	0.43578	0.811	B	0.33846	0.171	T	0.08994	-1.0695	9	0.42905	T	0.14	.	1.1324	0.01748	0.3158:0.2552:0.2984:0.1306	rs16893332;rs56509792;rs16893332	988	P01266	THYG_HUMAN	P	988	ENSP00000367100:R988P;ENSP00000220616:R988P	ENSP00000220616:R988P	R	+	2	0	TG	133975318	0.000000	0.05858	0.059000	0.19551	0.028000	0.11728	-0.061000	0.11693	0.194000	0.20326	0.380000	0.24917	CGT	A|0.002;C|0.049;G|0.950	0.049	strong		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133906136	G	C	133906136	3	2	22	1	0	0	0	0	1	0	0	0	15810	1145	40	4	3005	4	TG	8	133906136	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5641	133906136	12457886	4949	10057										
TG	7038	hgsc.bcm.edu	37	chr8	133953673	133953673	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttctggattgtacaacCccattgtgttctcagcctca					rs61744678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133953673C>T	ENST00000220616.4	+	26	5159	c.5119C>T	c.(5119-5121)Ccc>Tcc	p.P1707S	TG_ENST00000377869.1_Missense_Mutation_p.P1650S|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1707					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATTGTACAACCCCATTGTGTT	0.498													C|||	380	0.0758786	0.2655	0.0331	5008	,	,		22960	0.0		0.005	False		,,,				2504	0.001				p.P1707S		Atlas-SNP	.											TG,right_upper_lobe,carcinoma,-1,1	TG	416	1	0			c.C5119T						PASS	.	C	SER/PRO	1029,3377	380.4+/-323.7	118,793,1292	171	145	154		5119	-1.3	0	8	dbSNP_129	154	27,8573	18.5+/-59.3	0,27,4273	yes	missense	TG	NM_003235.4	74	118,820,5565	TT,TC,CC		0.314,23.3545,8.1193	benign	1707/2769	133953673	1056,11950	2203	4300	6503	SO:0001583	missense	7038	exon26			TACAACCCCATTG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5119C>T	8.37:g.133953673C>T	ENSP00000220616:p.Pro1707Ser	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	274	135	0.492701	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	132	0.06043956043956044	118	0.23983739837398374	11	0.03038674033149171	0	0.0	3	0.00395778364116095	C	0.010	-1.779518	0.00634	0.233545	0.00314	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.65549	-0.16;-0.16	5.81	-1.31	0.09230	.	0.444137	0.21467	N	0.074067	T	0.00012	0.0000	N	0.26130	0.795	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.10613	-1.0622	9	0.15066	T	0.55	.	4.487	0.11794	0.0:0.307:0.3029:0.3901	rs61744678	1707	P01266	THYG_HUMAN	S	1650;513;1707	ENSP00000367100:P1650S;ENSP00000220616:P1707S	ENSP00000220616:P1707S	P	+	1	0	TG	134022855	0.000000	0.05858	0.004000	0.12327	0.053000	0.15095	-0.195000	0.09546	-0.120000	0.11809	0.462000	0.41574	CCC	C|0.929;T|0.071	0.071	strong		0.498	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133953673	C	T	133953673	3	4	22	1	0	0	0	0	1	0	0	0	15810	623	22	2	5221	2	TG	8	133953673	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47537	133953673	12410349	4950	10058	210	2								
TG	7038	hgsc.bcm.edu	37	chr8	133953676	133953676	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctggattgtacaaccccAttgtgttctcagcctcagga					rs61744679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133953676A>G	ENST00000220616.4	+	26	5162	c.5122A>G	c.(5122-5124)Att>Gtt	p.I1708V	TG_ENST00000377869.1_Missense_Mutation_p.I1651V|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1708					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTACAACCCCATTGTGTTCTC	0.502													A|||	140	0.0279553	0.1014	0.0086	5008	,	,		22921	0.0		0.0	False		,,,				2504	0.0				p.I1708V		Atlas-SNP	.											.	TG	416	.	0			c.A5122G						PASS	.	A	VAL/ILE	382,4024	193.0+/-218.2	19,344,1840	170	143	153		5122	-0.3	0	8	dbSNP_129	153	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TG	NM_003235.4	29	19,347,6137	GG,GA,AA		0.0349,8.67,2.9602	benign	1708/2769	133953676	385,12621	2203	4300	6503	SO:0001583	missense	7038	exon26			AACCCCATTGTGT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5122A>G	8.37:g.133953676A>G	ENSP00000220616:p.Ile1708Val	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	286	144	0.503497	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	61	0.027930402930402932	57	0.11585365853658537	4	0.011049723756906077	0	0.0	0	0.0	A	0	-2.653927	0.00109	0.0867	3.49E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.60548	0.18;0.18	5.81	-0.269	0.12930	.	1.039030	0.07593	N	0.922337	T	0.00210	0.0006	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.02654	T	1	.	4.2539	0.10708	0.2662:0.0:0.4355:0.2983	rs61744679	1708	P01266	THYG_HUMAN	V	1651;514;1708	ENSP00000367100:I1651V;ENSP00000220616:I1708V	ENSP00000220616:I1708V	I	+	1	0	TG	134022858	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.340000	0.19892	0.055000	0.16094	-1.652000	0.00757	ATT	A|0.964;G|0.036	0.036	strong		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		G	133953676	A	G	133953676	3	3	22	1	0	0	0	0	1	0	0	0	15810	217	8	2	5224	2	TG	8	133953676	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	133953676	12410346	4951	10059	210	2								
TG	7038	hgsc.bcm.edu	37	chr8	133953740	133953740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctgtcttcttgcatgcgAccgtgatctgtgttgcgatg	11	10	4	1	rs61744749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133953740A>C	ENST00000220616.4	+	26	5226	c.5186A>C	c.(5185-5187)gAc>gCc	p.D1729A	TG_ENST00000377869.1_Missense_Mutation_p.D1672A|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1729					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTGCATGCGACCGTGATCTG	0.527													A|||	140	0.0279553	0.1014	0.0086	5008	,	,		23318	0.0		0.0	False		,,,				2504	0.0				p.D1729A		Atlas-SNP	.											TG,NS,carcinoma,+1,1	TG	416	1	0			c.A5186C						PASS	.	A	ALA/ASP	382,4024	193.0+/-218.2	19,344,1840	176	141	153		5186	5.6	1	8	dbSNP_129	153	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TG	NM_003235.4	126	19,347,6137	CC,CA,AA		0.0349,8.67,2.9602	possibly-damaging	1729/2769	133953740	385,12621	2203	4300	6503	SO:0001583	missense	7038	exon26			CATGCGACCGTGA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5186A>C	8.37:g.133953740A>C	ENSP00000220616:p.Asp1729Ala	Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	311	147	0.472669	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	61	0.027930402930402932	57	0.11585365853658537	4	0.011049723756906077	0	0.0	0	0.0	A	11.79	1.743661	0.30865	0.0867	3.49E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.70282	-0.47;-0.47	5.61	5.61	0.85477	.	0.387653	0.24873	N	0.034902	T	0.02230	0.0069	M	0.72118	2.19	0.36596	D	0.874396	B	0.31581	0.329	B	0.27170	0.077	T	0.47898	-0.9081	10	0.66056	D	0.02	.	12.1945	0.54290	1.0:0.0:0.0:0.0	rs61744749	1729	P01266	THYG_HUMAN	A	1672;535;1729	ENSP00000367100:D1672A;ENSP00000220616:D1729A	ENSP00000220616:D1729A	D	+	2	0	TG	134022922	0.998000	0.40836	0.981000	0.43875	0.150000	0.21749	3.679000	0.54634	2.142000	0.66516	0.379000	0.24179	GAC	A|0.964;C|0.036	0.036	strong		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133953740	A	C	133953740	3	2	22	1	0	0	0	0	1	0	0	0	15810	275	10	5	5288	5	TG	8	133953740	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	64	133953740	12410282	4952	10060										
TG	7038	hgsc.bcm.edu	37	chr8	133980214	133980214	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccctgttccggaagaaAggtgagcacttggagagatc	14	8	0	3	rs16904799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133980214A>G	ENST00000220616.4	+	31	5902	c.5862A>G	c.(5860-5862)aaA>aaG	p.K1954K	TG_ENST00000519543.1_Splice_Site_p.K108K|TG_ENST00000542445.1_Splice_Site_p.K324K|TG_ENST00000377869.1_Splice_Site_p.K1897K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1954					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCGGAAGAAAGGTGAGCACT	0.458													A|||	286	0.0571086	0.1967	0.0274	5008	,	,		17565	0.0		0.006	False		,,,				2504	0.001				p.K1954K		Atlas-SNP	.											.	TG	416	.	0			c.A5862G						PASS	.	A		720,3686	266.8+/-267.5	53,614,1536	68	61	64		5862	3.2	1	8	dbSNP_123	64	27,8573	15.3+/-51.7	0,27,4273	yes	coding-synonymous-near-splice	TG	NM_003235.4		53,641,5809	GG,GA,AA		0.314,16.3414,5.7435		1954/2769	133980214	747,12259	2203	4300	6503	SO:0001630	splice_region_variant	7038	exon31			GAAGAAAGGTGAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5863+1A>G	8.37:g.133980214A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	71	38	0.535211	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	95	0.043498168498168496	83	0.16869918699186992	9	0.024861878453038673	0	0.0	3	0.00395778364116095	A	5.120	0.207815	0.09704	0.163414	0.00314	ENSG00000042832	ENST00000519178	.	.	.	5.65	3.25	0.37280	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00353	-1.1795	4	.	.	.	.	5.0621	0.14562	0.7544:0.0:0.0856:0.16	rs16904799;rs16904799	.	.	.	G	410	.	.	S	+	1	0	TG	134049396	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	1.350000	0.34010	0.495000	0.27882	0.533000	0.62120	AGT	A|0.949;G|0.051	0.051	strong		0.458	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Silent	G	133980214	A	G	133980214	5	3	22	1	0	0	0	0	0	0	1	0	15810	86	3	3	5984	3	TG	8	133980214	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26474	133980214	12383808	4953	10061										
TG	7038	hgsc.bcm.edu	37	chr8	133981760	133981760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgccgttccaaaaactgaTggggatatccattagaaata	8	9	0	2	rs56230101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:133981760T>C	ENST00000220616.4	+	32	5961	c.5921T>C	c.(5920-5922)aTg>aCg	p.M1974T	TG_ENST00000377869.1_Missense_Mutation_p.M1917T|TG_ENST00000542445.1_Missense_Mutation_p.M344T|TG_ENST00000519543.1_Missense_Mutation_p.M128T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1974			M -> T (in dbSNP:rs56230101).		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAAAAACTGATGGGGATATCC	0.343													T|||	626	0.125	0.3306	0.0735	5008	,	,		17457	0.001		0.0736	False		,,,				2504	0.0644				p.M1974T		Atlas-SNP	.											.	TG	416	.	0			c.T5921C						PASS	.	T	THR/MET	1278,3128	433.3+/-343.5	195,888,1120	103	113	110		5921	-0.1	0	8	dbSNP_129	110	633,7967	163.0+/-215.7	25,583,3692	yes	missense	TG	NM_003235.4	81	220,1471,4812	CC,CT,TT		7.3605,29.0059,14.6932	benign	1974/2769	133981760	1911,11095	2203	4300	6503	SO:0001583	missense	7038	exon32			AACTGATGGGGAT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5921T>C	8.37:g.133981760T>C	ENSP00000220616:p.Met1974Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	266	0.12179487179487179	177	0.3597560975609756	32	0.08839779005524862	0	0.0	57	0.07519788918205805	T	0.004	-2.254346	0.00265	0.290059	0.073605	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.64438	0.13;0.14;-0.08;-0.1	5.53	-0.0779	0.13716	.	0.983060	0.08309	N	0.965734	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.26155	-1.0111	9	0.02654	T	1	.	5.7219	0.17992	0.0:0.4479:0.284:0.2681	rs56230101;rs61750469	128;344;1974	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	T	1917;780;1974;344;128	ENSP00000367100:M1917T;ENSP00000220616:M1974T;ENSP00000441693:M344T;ENSP00000430430:M128T	ENSP00000220616:M1974T	M	+	2	0	TG	134050942	0.000000	0.05858	0.008000	0.14137	0.600000	0.36913	-0.633000	0.05483	0.011000	0.14865	-0.479000	0.04858	ATG	T|0.869;C|0.131	0.131	strong		0.343	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133981760	T	C	133981760	3	2	22	1	0	0	0	0	1	0	0	0	15810	1464	51	2	6047	2	TG	8	133981760	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1546	133981760	12382262	4954	10062										
TG	7038	hgsc.bcm.edu	37	chr8	134042164	134042164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatttggcggggaccctcggCgcgtgtccctggcagcagac	16	13	0	1	rs61742878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134042164C>T	ENST00000220616.4	+	41	7175	c.7135C>T	c.(7135-7137)Cgc>Tgc	p.R2379C	TG_ENST00000377869.1_Missense_Mutation_p.R2322C|TG_ENST00000519543.1_Missense_Mutation_p.R512C|TG_ENST00000542445.1_Missense_Mutation_p.R749C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2379					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACCCTCGGCGCGTGTCCCT	0.667													C|||	22	0.00439297	0.0166	0.0	5008	,	,		14003	0.0		0.0	False		,,,				2504	0.0				p.R2379C		Atlas-SNP	.											TG,NS,carcinoma,0,4	TG	416	4	0			c.C7135T						PASS	.	C	CYS/ARG	54,4352	54.2+/-90.2	0,54,2149	47	49	48		7135	4.2	0.6	8	dbSNP_129	48	0,8596		0,0,4298	yes	missense	TG	NM_003235.4	180	0,54,6447	TT,TC,CC		0.0,1.2256,0.4153	probably-damaging	2379/2769	134042164	54,12948	2203	4298	6501	SO:0001583	missense	7038	exon41			CCTCGGCGCGTGT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7135C>T	8.37:g.134042164C>T	ENSP00000220616:p.Arg2379Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	124	49	0.395161	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	7|7	0.003205128205128205|0.003205128205128205	7|7	0.014227642276422764|0.014227642276422764	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	15.00|15.00	2.701863|2.701863	0.48307|0.48307	0.012256|0.012256	0.0|0.0	ENSG00000042832|ENSG00000042832	ENST00000519178;ENST00000518108|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	5.13|5.13	4.22|4.22	0.49857|0.49857	.|Carboxylesterase, type B (1);	.|0.761860	.|0.12170	.|N	.|0.493098	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.72576|0.72576	2.205|2.205	0.09310|0.09310	N|N	0.999993|0.999993	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;D	.|0.63192	.|0.912;0.899;0.912	T|T	0.63853|0.63853	-0.6543|-0.6543	5|10	.|0.87932	.|D	.|0	.|.	13.7454|13.7454	0.62872|0.62872	0.1544:0.8456:0.0:0.0|0.1544:0.8456:0.0:0.0	rs61742878|rs61742878	.|512;749;2379	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	V|C	834;174|2322;1185;2379;749;512	.|ENSP00000367100:R2322C;ENSP00000220616:R2379C;ENSP00000441693:R749C;ENSP00000430430:R512C	.|ENSP00000220616:R2379C	A|R	+|+	2|1	0|0	TG|TG	134111346|134111346	0.060000|0.060000	0.20803|0.20803	0.550000|0.550000	0.28217|0.28217	0.384000|0.384000	0.30261|0.30261	2.504000|2.504000	0.45416|0.45416	2.407000|2.407000	0.81776|0.81776	0.485000|0.485000	0.47835|0.47835	GCG|CGC	C|0.995;T|0.005	0.005	strong		0.667	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134042164	C	T	134042164	3	4	22	1	0	0	0	0	1	0	0	0	15810	768	27	1	7297	1	TG	8	134042164	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60404	134042164	12321858	4955	10063										
TG	7038	hgsc.bcm.edu	37	chr8	134108459	134108459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccaatgcagctcctggccGtgagtggccctttccactac	9	15	0	1	rs61730222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134108459G>C	ENST00000220616.4	+	43	7454	c.7414G>C	c.(7414-7416)Gtg>Ctg	p.V2472L	SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.V605L|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.V842L|TG_ENST00000377869.1_Missense_Mutation_p.V2415L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2472					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2472M(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCCTGGCCGTGAGTGGCCC	0.502													G|||	90	0.0179712	0.0658	0.0043	5008	,	,		21243	0.0		0.0	False		,,,				2504	0.0				p.V2472L		Atlas-SNP	.											TG,colon,carcinoma,0,2	TG	416	2	1	Substitution - Missense(1)	large_intestine(1)	c.G7414C						PASS	.	G	,,LEU/VAL	250,4156	146.9+/-181.5	5,240,1958	171	160	164		,,7414	3.4	1	8	dbSNP_129	164	2,8598	1.2+/-3.3	0,2,4298	no	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,32	5,242,6256	CC,CG,GG		0.0233,5.6741,1.9376	,,possibly-damaging	,,2472/2769	134108459	252,12754	2203	4300	6503	SO:0001583	missense	7038	exon43			CTGGCCGTGAGTG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7414G>C	8.37:g.134108459G>C	ENSP00000220616:p.Val2472Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	181	85	0.469613	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	42|42	0.019230769230769232|0.019230769230769232	39|39	0.07926829268292683|0.07926829268292683	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	G|G	19.35|19.35	3.810956|3.810956	0.70797|0.70797	0.056741|0.056741	2.33E-4|2.33E-4	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23	5.46|5.46	3.42|3.42	0.39159|0.39159	.|Carboxylesterase, type B (1);	.|0.800184	.|0.11276	.|N	.|0.580893	T|T	0.05318|0.05318	0.0141|0.0141	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.45283	.|0.855;0.142;0.526	.|B;B;B	.|0.41571	.|0.36;0.014;0.172	T|T	0.11867|0.11867	-1.0570|-1.0570	5|10	.|0.66056	.|D	.|0.02	.|.	5.3896|5.3896	0.16237|0.16237	0.2809:0.0:0.7191:0.0|0.2809:0.0:0.7191:0.0	rs61730222|rs61730222	.|605;842;2472	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	P|L	927|2415;1278;2472;842;605	.|ENSP00000367100:V2415L;ENSP00000220616:V2472L;ENSP00000441693:V842L;ENSP00000430430:V605L	.|ENSP00000220616:V2472L	R|V	+|+	2|1	0|0	TG|TG	134177641|134177641	0.999000|0.999000	0.42202|0.42202	0.989000|0.989000	0.46669|0.46669	0.954000|0.954000	0.61252|0.61252	4.049000|4.049000	0.57397|0.57397	1.300000|1.300000	0.44818|0.44818	0.655000|0.655000	0.94253|0.94253	CGT|GTG	G|0.978;C|0.022	0.022	strong		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	134108459	G	C	134108459	3	2	22	1	0	0	0	0	1	0	0	0	15810	1145	40	4	7584	4	TG	8	134108459	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66295	134108459	12255563	4956	10064										
TG	7038	hgsc.bcm.edu	37	chr8	134108546	134108546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcactgaagaggtctttaTgggtagaggtcgatctgctc	14	7	2	3	rs2069569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134108546T>C	ENST00000220616.4	+	43	7541	c.7501T>C	c.(7501-7503)Tgg>Cgg	p.W2501R	SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.W634R|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.W871R|TG_ENST00000377869.1_Missense_Mutation_p.W2444R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2501			W -> R (in dbSNP:rs2069569). {ECO:0000269|PubMed:10199792}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTCTTTATGGGTAGAGGT	0.587													C|||	2616	0.522364	0.8275	0.5086	5008	,	,		19240	0.2302		0.5328	False		,,,				2504	0.41				p.W2501R		Atlas-SNP	.											.	TG	416	.	0			c.T7501C						PASS	.	C	,,ARG/TRP	3462,944	362.9+/-316.3	1362,738,103	158	154	156		,,7501	2	0	8	dbSNP_96	156	4533,4067	560.0+/-387.5	1215,2103,982	yes	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,101	2577,2841,1085	CC,CT,TT		47.2907,21.4253,38.5284	,,benign	,,2501/2769	134108546	7995,5011	2203	4300	6503	SO:0001583	missense	7038	exon43			TCTTTATGGGTAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7501T>C	8.37:g.134108546T>C	ENSP00000220616:p.Trp2501Arg	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	1131|1131	0.5178571428571429|0.5178571428571429	412|412	0.8373983739837398|0.8373983739837398	192|192	0.5303867403314917|0.5303867403314917	122|122	0.21328671328671328|0.21328671328671328	405|405	0.5343007915567283|0.5343007915567283	C|C	0.017|0.017	-1.494739|-1.494739	0.01009|0.01009	0.785747|0.785747	0.527093|0.527093	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2	5.26|5.26	2.0|2.0	0.26442|0.26442	.|Carboxylesterase, type B (1);	.|0.795765	.|0.10645	.|N	.|0.650544	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01242|0.01242	-0.935|-0.935	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.29882|0.29882	-0.9997|-0.9997	4|9	.|0.28530	.|T	.|0.3	.|.	5.2901|5.2901	0.15721|0.15721	0.293:0.5391:0.0:0.168|0.293:0.5391:0.0:0.168	rs56541861;rs59673778|rs56541861;rs59673778	.|634;871;2501	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	T|R	956|2444;1307;2501;871;634	.|ENSP00000367100:W2444R;ENSP00000220616:W2501R;ENSP00000441693:W871R;ENSP00000430430:W634R	.|ENSP00000220616:W2501R	M|W	+|+	2|1	0|0	TG|TG	134177728|134177728	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.018000|-0.018000	0.12568|0.12568	0.197000|0.197000	0.20387|0.20387	-0.716000|-0.716000	0.03619|0.03619	ATG|TGG	C|0.598;N|0.002	0.598	strong		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	134108546	T	C	134108546	3	2	22	1	0	0	0	0	1	0	0	0	15810	1464	51	2	7671	2	TG	8	134108546	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	87	134108546	12255476	4957	10065										
TG	7038	hgsc.bcm.edu	37	chr8	134125682	134125682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagcaatttgaggaaagtcGaggccggaccagtagcaaaa	12	8	0	1	rs1133076	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134125682G>A	ENST00000220616.4	+	44	7629	c.7589G>A	c.(7588-7590)cGa>cAa	p.R2530Q	TG_ENST00000519543.1_Missense_Mutation_p.R663Q|TG_ENST00000542445.1_Missense_Mutation_p.R900Q|TG_ENST00000377869.1_Missense_Mutation_p.R2473Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2530			R -> Q (in dbSNP:rs1133076). {ECO:0000269|PubMed:10199792}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGAAAGTCGAGGCCGGACC	0.478													A|||	2691	0.53734	0.8041	0.3516	5008	,	,		18729	0.4028		0.492	False		,,,				2504	0.4939				p.R2530Q		Atlas-SNP	.											.	TG	416	.	0			c.G7589A						PASS	.	A	GLN/ARG	3390,1016	377.3+/-322.4	1301,788,114	67	74	72		7589	4.8	1	8	dbSNP_86	72	4078,4522	593.9+/-393.2	968,2142,1190	yes	missense	TG	NM_003235.4	43	2269,2930,1304	AA,AG,GG		47.4186,23.0595,42.5803	benign	2530/2769	134125682	7468,5538	2203	4300	6503	SO:0001583	missense	7038	exon44			AAAGTCGAGGCCG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7589G>A	8.37:g.134125682G>A	ENSP00000220616:p.Arg2530Gln	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	1156	0.5293040293040293	406	0.8252032520325203	148	0.4088397790055249	223	0.38986013986013984	379	0.5	A	5.800	0.331826	0.10956	0.769405	0.474186	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.83	4.83	0.62350	Carboxylesterase, type B (1);	1.362880	0.04630	N	0.403510	T	0.00012	0.0000	N	0.00483	-1.445	0.49798	P	1.7999999999995797E-4	B;B;B	0.11235	0.001;0.0;0.004	B;B;B	0.04013	0.001;0.0;0.001	T	0.43327	-0.9398	9	0.02654	T	1	.	10.0443	0.42177	0.9198:0.0:0.0802:0.0	rs3194514	663;900;2530	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2473;1336;2530;900;663	ENSP00000367100:R2473Q;ENSP00000220616:R2530Q;ENSP00000441693:R900Q;ENSP00000430430:R663Q	ENSP00000220616:R2530Q	R	+	2	0	TG	134194864	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	5.139000	0.64801	0.797000	0.33971	-0.254000	0.11334	CGA	G|0.442;A|0.558	0.558	strong		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134125682	G	A	134125682	3	1	22	1	0	0	0	0	1	0	0	0	15810	1058	37	1	7763	1	TG	8	134125682	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17136	134125682	12238340	4958	10066										
TG	7038	hgsc.bcm.edu	37	chr8	134128945	134128945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtaccatgctcctgaaaActacggccatggcaggtaag	10	11	0	1	rs10091530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134128945A>G	ENST00000220616.4	+	45	7887	c.7847A>G	c.(7846-7848)aAc>aGc	p.N2616S	TG_ENST00000519543.1_Missense_Mutation_p.N749S|TG_ENST00000542445.1_Missense_Mutation_p.N986S|TG_ENST00000377869.1_Missense_Mutation_p.N2559S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2616			N -> S (in dbSNP:rs10091530).		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCCTGAAAACTACGGCCAT	0.507													G|||	445	0.0888578	0.3222	0.0231	5008	,	,		19667	0.0		0.003	False		,,,				2504	0.0				p.N2616S		Atlas-SNP	.											.	TG	416	.	0			c.A7847G						PASS	.	G	SER/ASN	1189,3217	708.9+/-407.7	146,897,1160	99	79	86		7847	1.4	0	8	dbSNP_119	86	13,8587	818.8+/-406.8	0,13,4287	yes	missense	TG	NM_003235.4	46	146,910,5447	GG,GA,AA		0.1512,26.9859,9.2419	benign	2616/2769	134128945	1202,11804	2203	4300	6503	SO:0001583	missense	7038	exon45			CTGAAAACTACGG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7847A>G	8.37:g.134128945A>G	ENSP00000220616:p.Asn2616Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	168	0.07692307692307693	154	0.3130081300813008	13	0.03591160220994475	0	0.0	1	0.0013192612137203166	G	0.003	-2.513501	0.00153	0.269859	0.001512	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;0.84	5.6	1.44	0.22558	Carboxylesterase, type B (1);	1.570080	0.03060	N	0.155775	T	0.00012	0.0000	N	0.01824	-0.7	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16958	-1.0385	9	0.02654	T	1	.	7.3691	0.26792	0.2156:0.242:0.5423:0.0	rs10091530;rs52800587;rs10091530	749;986;2616	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	S	2559;1422;2616;986;749;65	ENSP00000367100:N2559S;ENSP00000220616:N2616S;ENSP00000441693:N986S;ENSP00000430430:N749S;ENSP00000430161:N65S	ENSP00000220616:N2616S	N	+	2	0	TG	134198127	0.953000	0.32496	0.010000	0.14722	0.036000	0.12997	0.683000	0.25349	0.064000	0.16427	-1.149000	0.01842	AAC	A|0.902;G|0.098;T|0.000	0.098	strong		0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		G	134128945	A	G	134128945	3	3	22	1	0	0	0	0	1	0	0	0	15810	43	2	2	8025	2	TG	8	134128945	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3263	134128945	12235077	4959	10067										
TG	7038	hgsc.bcm.edu	37	chr8	134144113	134144113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccttctacccagcctaCgaggggcagttttctctgga	9	14	2	0	rs2294024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134144113C>T	ENST00000220616.4	+	46	7960	c.7920C>T	c.(7918-7920)taC>taT	p.Y2640Y	TG_ENST00000377869.1_Silent_p.Y2583Y|TG_ENST00000519543.1_Silent_p.Y773Y|TG_ENST00000542445.1_Silent_p.Y1010Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2640					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Y2640Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCCAGCCTACGAGGGGCAGT	0.498													C|||	2030	0.405351	0.5885	0.4928	5008	,	,		17458	0.1657		0.4841	False		,,,				2504	0.2618				p.Y2640Y		Atlas-SNP	.											TG,NS,carcinoma,0,1	TG	416	1	1	Substitution - coding silent(1)	stomach(1)	c.C7920T						PASS	.	C		2536,1870	631.6+/-395.7	737,1062,404	94	94	94		7920	0.1	0	8	dbSNP_100	94	4238,4362	571.7+/-389.6	1070,2098,1132	no	coding-synonymous	TG	NM_003235.4		1807,3160,1536	TT,TC,CC		49.2791,42.4421,47.9163		2640/2769	134144113	6774,6232	2203	4300	6503	SO:0001819	synonymous_variant	7038	exon46			AGCCTACGAGGGG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7920C>T	8.37:g.134144113C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	166	88	0.53012	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	926	0.423992673992674	276	0.5609756097560976	191	0.5276243093922652	97	0.16958041958041958	362	0.47757255936675463	C	6.383	0.438787	0.12104	0.575579	0.492791	ENSG00000042832	ENST00000519178	.	.	.	5.32	0.0514	0.14297	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8924	0.13733	0.0:0.4075:0.1533:0.4392	rs2294024;rs2294024	.	.	.	X	1096	.	.	R	+	1	2	TG	134213295	0.002000	0.14202	0.013000	0.15412	0.986000	0.74619	-0.075000	0.11431	0.254000	0.21573	0.491000	0.48974	CGA	C|0.522;T|0.478	0.478	strong		0.498	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134144113	C	T	134144113	2	4	22	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TG	8	134144113	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15168	134144113	12219909	4960	10068										
ST3GAL1	6482	hgsc.bcm.edu	37	chr8	134478178	134478178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctatctcaggcccataagaAgactccctcaggttgcccga	8	14	3	2	rs112787936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:134478178A>G	ENST00000319914.5	-	5	1489	c.462T>C	c.(460-462)tcT>tcC	p.S154S	ST3GAL1_ENST00000399640.2_Silent_p.S154S|ST3GAL1_ENST00000521180.1_Silent_p.S154S|ST3GAL1_ENST00000522652.1_Silent_p.S154S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	154					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCCATAAGAAGACTCCCTCA	0.622													A|||	75	0.014976	0.0552	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0				p.S154S		Atlas-SNP	.											.	ST3GAL1	39	.	0			c.T462C						PASS	.	A	,	201,4205	123.7+/-161.0	5,191,2007	94	93	93		462,462	1.8	0.3	8	dbSNP_132	93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ST3GAL1	NM_003033.3,NM_173344.2	,	5,193,6305	GG,GA,AA		0.0233,4.562,1.5608	,	154/341,154/341	134478178	203,12803	2203	4300	6503	SO:0001819	synonymous_variant	6482	exon6			ATAAGAAGACTCC	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.462T>C	8.37:g.134478178A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_173344	O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	CCDS6373.1																																																																																			A|0.984;G|0.016	0.016	strong		0.622	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		G	134478178	A	G	134478178	2	3	22	1	0	0	0	0	0	0	0	1	15213	59	3	3		3	ST3GAL1	8	134478178	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	334065	134478178	11885844	4961	10069										
ZFAT	57623	hgsc.bcm.edu	37	chr8	135613947	135613947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtttgacctgagacacCtgctgggatctgggtcacca	13	11	2	2	rs35003767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:135613947C>T	ENST00000377838.3	-	6	2189	c.2015G>A	c.(2014-2016)aGg>aAg	p.R672K	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Missense_Mutation_p.R660K|ZFAT_ENST00000520214.1_Missense_Mutation_p.R660K|ZFAT_ENST00000523399.1_Missense_Mutation_p.R610K|ZFAT_ENST00000520727.1_Missense_Mutation_p.R660K|ZFAT_ENST00000520356.1_Missense_Mutation_p.R660K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	672			R -> K (in dbSNP:rs35003767).		hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCTGAGACACCTGCTGGGATC	0.602													C|||	119	0.023762	0.0855	0.0086	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0				p.R672K		Atlas-SNP	.											.	ZFAT	265	.	0			c.G2015A						PASS	.	C	LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG	224,3798		7,210,1794	60	66	64		1979,1979,1829,1979,2015	-2.1	0	8	dbSNP_126	64	2,8378		0,2,4188	yes	missense,missense,missense,missense,missense	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	26,26,26,26,26	7,212,5982	TT,TC,CC		0.0239,5.5694,1.8223	benign,benign,benign,benign,benign	660/1232,660/1232,610/1182,660/1146,672/1244	135613947	226,12176	2011	4190	6201	SO:0001583	missense	57623	exon6			AGACACCTGCTGG	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2015G>A	8.37:g.135613947C>T	ENSP00000367069:p.Arg672Lys	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	59	0.027014652014652016	56	0.11382113821138211	3	0.008287292817679558	0	0.0	0	0.0	C	0.009	-1.816281	0.00595	0.055694	2.39E-4	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.08282	3.18;3.12;3.13;3.11;3.12;3.12	4.76	-2.14	0.07123	.	1.175010	0.06093	N	0.663981	T	0.00109	0.0003	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16396	0.001;0.017;0.002;0.001	B;B;B;B	0.15870	0.001;0.014;0.002;0.0	T	0.37731	-0.9693	10	0.05436	T	0.98	-1.7605	2.7057	0.05161	0.1238:0.3172:0.3665:0.1925	rs35003767	610;660;660;672	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	660;660;660;672;660;559;610;660	ENSP00000427879:R660K;ENSP00000427831:R660K;ENSP00000394501:R660K;ENSP00000367069:R672K;ENSP00000428483:R660K;ENSP00000429091:R610K	ENSP00000326997:R559K	R	-	2	0	ZFAT	135683129	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-2.263000	0.01174	-0.055000	0.13244	0.561000	0.74099	AGG	C|0.971;T|0.029	0.029	strong		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135613947	C	T	135613947	3	4	22	1	0	0	0	0	1	0	0	0	17629	681	24	2	1760	2	ZFAT	8	135613947	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1135769	135613947	10750075	4962	10070										
FAM135B	51059	hgsc.bcm.edu	37	chr8	139149406	139149406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacctgtgtgtctgtctttGagggcagttttacacatttc	9	8	2	1	rs6577876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:139149406G>A	ENST00000395297.1	-	19	4169	c.3999C>T	c.(3997-3999)ctC>ctT	p.L1333L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1333										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCTGTCTTTGAGGGCAGTTT	0.408										HNSCC(54;0.14)			G|||	984	0.196486	0.3101	0.2017	5008	,	,		18941	0.0139		0.2575	False		,,,				2504	0.1646				p.L1333L		Atlas-SNP	.											.	FAM135B	423	.	0			c.C3999T						PASS	.	G		1137,2587		177,783,902	153	151	152		3999	-0.4	0.9	8	dbSNP_116	152	2241,5981		295,1651,2165	no	coding-synonymous	FAM135B	NM_015912.3		472,2434,3067	AA,AG,GG		27.2561,30.5317,28.2772		1333/1407	139149406	3378,8568	1862	4111	5973	SO:0001819	synonymous_variant	51059	exon19			GTCTTTGAGGGCA	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3999C>T	8.37:g.139149406G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	131	55	0.419847	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			G|0.777;A|0.223	0.223	strong		0.408	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139149406	G	A	139149406	2	1	22	1	0	0	0	0	0	0	0	1	5449	1277	45	2		2	FAM135B	8	139149406	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3535459	139149406	7214616	4963	10071										
TRAPPC9	83696	hgsc.bcm.edu	37	chr8	140743460	140743460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgaggcaggccgactggccGgacggctgcacctgagcagg	17	14	0	1	rs148857575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:140743460G>A	ENST00000438773.2	-	23	3424	c.3291C>T	c.(3289-3291)tcC>tcT	p.S1097S	TRAPPC9_ENST00000389328.4_Silent_p.S1195S|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389327.3_Silent_p.S1088S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1097					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCGACTGGCCGGACGGCTGCA	0.622													G|||	12	0.00239617	0.0083	0.0014	5008	,	,		14736	0.0		0.0	False		,,,				2504	0.0				p.S1195S		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.C3585T						PASS	.	G	,	30,4376	36.8+/-68.6	0,30,2173	38	38	38		3291,3585	-9.9	0	8	dbSNP_134	38	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	,	1097/1149,1195/1247	140743460	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	83696	exon23			CTGGCCGGACGGC	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3291C>T	8.37:g.140743460G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	0.021	-1.421690	0.01126	0.006809	0.0	ENSG00000167632	ENST00000520857	.	.	.	4.93	-9.86	0.00473	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.38039	D	0.935405	.	.	.	.	.	.	T	0.56792	-0.7920	4	.	.	.	.	6.719	0.23321	0.0688:0.4132:0.3666:0.1514	.	.	.	.	W	941	.	.	R	-	1	2	TRAPPC9	140812642	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-3.021000	0.00642	-4.055000	0.00078	-3.274000	0.00048	CGG	G|0.998;A|0.002	0.002	strong		0.622	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		A	140743460	G	A	140743460	2	1	22	1	0	0	0	0	0	0	0	1	16462	1103	39	1		1	TRAPPC9	8	140743460	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1594054	140743460	5620562	4964	10072										
TRAPPC9	83696	hgsc.bcm.edu	37	chr8	140999002	140999002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacggtcagctcatgctcGgtggagttgaagacatccag	13	10	2	3	rs28710457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:140999002G>A	ENST00000438773.2	-	19	2875	c.2742C>T	c.(2740-2742)acC>acT	p.T914T	TRAPPC9_ENST00000389328.4_Silent_p.T1012T|TRAPPC9_ENST00000389327.3_Silent_p.T905T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	914					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCTCATGCTCGGTGGAGTTGA	0.567													G|||	54	0.0107827	0.0378	0.0014	5008	,	,		19691	0.003		0.0	False		,,,				2504	0.0				p.T1012T		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.C3036T						PASS	.	G	,	125,3835		1,123,1856	29	26	27		2742,3036	-9.6	0.5	8	dbSNP_125	27	1,7655		0,1,3827	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	1,124,5683	AA,AG,GG		0.0131,3.1566,1.0847	,	914/1149,1012/1247	140999002	126,11490	1980	3828	5808	SO:0001819	synonymous_variant	83696	exon19			ATGCTCGGTGGAG	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2742C>T	8.37:g.140999002G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1	21	0.009615384615384616	17	0.034552845528455285	1	0.0027624309392265192	3	0.005244755244755245	0	0.0	G	6.618	0.482489	0.12581	0.031566	1.31E-4	ENSG00000167632	ENST00000520857	.	.	.	5.62	-9.63	0.00544	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9498	0.14008	0.0885:0.1092:0.2516:0.5507	rs28710457	.	.	.	X	758	.	.	R	-	1	2	TRAPPC9	141068184	0.262000	0.24073	0.460000	0.27093	0.679000	0.39708	-0.500000	0.06405	-2.040000	0.00916	-2.131000	0.00343	CGA	G|0.986;A|0.014	0.014	strong		0.567	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		A	140999002	G	A	140999002	2	1	22	1	0	0	0	0	0	0	0	1	16462	1103	39	1		1	TRAPPC9	8	140999002	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	255542	140999002	5365020	4965	10073										
DENND3	22898	hgsc.bcm.edu	37	chr8	142154291	142154291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagattttgaagtggacaGtcatataaaagatttcgctg	9	4	1	3	rs307761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:142154291G>A	ENST00000262585.2	+	5	706	c.428G>A	c.(427-429)aGt>aAt	p.S143N	DENND3_ENST00000519811.1_Missense_Mutation_p.S223N|DENND3_ENST00000424248.1_Missense_Mutation_p.S143N	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	143	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.		S -> N (in dbSNP:rs307761).		cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTGGACAGTCATATAAAA	0.388													G|||	1739	0.347244	0.5787	0.2839	5008	,	,		18533	0.4583		0.1123	False		,,,				2504	0.2065				p.S143N		Atlas-SNP	.											.	DENND3	127	.	0			c.G428A						PASS	.	G	ASN/SER	2185,2221	584.7+/-386.1	540,1105,558	101	102	102		428	2.4	0.7	8	dbSNP_79	102	868,7732	196.5+/-241.4	43,782,3475	yes	missense	DENND3	NM_014957.2	46	583,1887,4033	AA,AG,GG		10.093,49.5915,23.4738	benign	143/1199	142154291	3053,9953	2203	4300	6503	SO:0001583	missense	22898	exon5			TGGACAGTCATAT	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.428G>A	8.37:g.142154291G>A	ENSP00000262585:p.Ser143Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	147	72	0.489796	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	679	0.3108974358974359	260	0.5284552845528455	80	0.22099447513812154	260	0.45454545454545453	79	0.10422163588390501	G	0.838	-0.742757	0.03088	0.495915	0.10093	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.93	2.4	0.29515	DENN (3);	0.606836	0.18863	N	0.129064	T	0.00012	0.0000	N	0.04203	-0.255	0.47037	P	7.059999999999844E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.39035	-0.9633	9	0.07482	T	0.82	-23.2708	12.9249	0.58254	0.9282:0.0:0.0718:0.0	rs307761;rs52830744;rs59579350;rs307761	223;143	E9PF32;A2RUS2	.;DEND3_HUMAN	N	143;143;223;223	ENSP00000262585:S143N;ENSP00000410594:S143N;ENSP00000428714:S223N;ENSP00000430786:S223N	ENSP00000262585:S143N	S	+	2	0	DENND3	142223473	1.000000	0.71417	0.677000	0.29947	0.028000	0.11728	3.858000	0.55979	0.306000	0.22856	-1.421000	0.01109	AGT	G|0.722;A|0.278	0.278	strong		0.388	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142154291	G	A	142154291	3	1	22	1	0	0	0	0	1	0	0	0	4432	1029	36	2	442	2	DENND3	8	142154291	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1155289	142154291	4209731	4966	10074										
SLC45A4	57210	hgsc.bcm.edu	37	chr8	142228386	142228386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcgctcatgctgcgcgaCggcttgatcagcaccacggc	13	14	2	1	rs61995881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:142228386C>T	ENST00000024061.3	-	4	1507	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	SLC45A4_ENST00000519067.1_Silent_p.P400P|SLC45A4_ENST00000433583.2_Silent_p.P393P|SLC45A4_ENST00000517878.1_Silent_p.P451P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCTGCGCGACGGCTTGATCA	0.677													C|||	69	0.013778	0.0461	0.0086	5008	,	,		15669	0.0		0.0	False		,,,				2504	0.002				p.P400P		Atlas-SNP	.											.	SLC45A4	71	.	0			c.G1200A						PASS	.	C		212,4194	124.9+/-162.1	7,198,1998	46	44	45		1200	-2.3	0.9	8	dbSNP_129	45	0,8598		0,0,4299	no	coding-synonymous	SLC45A4	NM_001080431.1		7,198,6297	TT,TC,CC		0.0,4.8116,1.6303		400/799	142228386	212,12792	2203	4299	6502	SO:0001819	synonymous_variant	57210	exon4			GCGCGACGGCTTG	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1200G>A	8.37:g.142228386C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	28	0.608696	NM_001080431	Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	CCDS34948.1																																																																																			C|0.986;T|0.014	0.014	strong		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		T	142228386	C	T	142228386	2	4	22	1	0	0	0	0	0	0	0	1	14643	523	19	1		1	SLC45A4	8	142228386	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74095	142228386	4135636	4967	10075										
GPR20	2843	hgsc.bcm.edu	37	chr8	142367246	142367246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgccacggccacttggcGggcgtggaagggcgtgaagc	18	12	0	1	rs36092215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:142367246G>A	ENST00000377741.3	-	2	868	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	260			R -> C (in dbSNP:rs36092215).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCACTTGGCGGGCGTGGAAG	0.667													G|||	410	0.081869	0.2496	0.0331	5008	,	,		19230	0.0		0.0368	False		,,,				2504	0.0204				p.R260C		Atlas-SNP	.											.	GPR20	43	.	0			c.C778T						PASS	.	G	CYS/ARG	1014,3388	345.1+/-308.4	108,798,1295	35	28	30		778	4.8	1	8	dbSNP_126	30	335,8261	108.0+/-168.7	11,313,3974	yes	missense	GPR20	NM_005293.2	180	119,1111,5269	AA,AG,GG		3.8972,23.035,10.3785	probably-damaging	260/359	142367246	1349,11649	2201	4298	6499	SO:0001583	missense	2843	exon2			CTTGGCGGGCGTG	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.778C>T	8.37:g.142367246G>A	ENSP00000366970:p.Arg260Cys	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_005293	Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	163	0.07463369963369963	129	0.2621951219512195	10	0.027624309392265192	0	0.0	24	0.0316622691292876	G	14.33	2.504122	0.44558	0.23035	0.038972	ENSG00000204882	ENST00000377741	T	0.72167	-0.63	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.31926	0.97	0.26149	P	0.9801759	D	0.89917	1.0	D	0.67231	0.95	T	0.02868	-1.1100	8	0.39692	T	0.17	-28.9204	12.0917	0.53730	0.0:0.0:0.8282:0.1718	rs36092215;rs62522460	260	Q99678	GPR20_HUMAN	C	260	ENSP00000366970:R260C	ENSP00000366970:R260C	R	-	1	0	GPR20	142436428	.	.	0.998000	0.56505	0.698000	0.40448	.	.	2.234000	0.73211	0.462000	0.41574	CGC	G|0.904;A|0.096	0.096	strong		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367246	G	A	142367246	3	1	22	1	0	0	0	0	1	0	0	0	6680	1116	39	1	302	1	GPR20	8	142367246	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138860	142367246	3996776	4968	10076										
GPR20	2843	hgsc.bcm.edu	37	chr8	142367559	142367559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagcggcgggagccttcGggccgcacgatggccaggta	18	13	0	0	rs11785629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:142367559G>A	ENST00000377741.3	-	2	555	c.465C>T	c.(463-465)ccC>ccT	p.P155P	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	155					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGGAGCCTTCGGGCCGCACGA	0.687													G|||	3011	0.601238	0.4539	0.7277	5008	,	,		15148	0.5099		0.7237	False		,,,				2504	0.6789				p.P155P		Atlas-SNP	.											.	GPR20	43	.	0			c.C465T						PASS	.	G		2254,2148		597,1060,544	17	20	19		465	-9.7	0	8	dbSNP_120	19	5923,2675		2065,1793,441	no	coding-synonymous	GPR20	NM_005293.2		2662,2853,985	AA,AG,GG		31.1119,48.796,37.1		155/359	142367559	8177,4823	2201	4299	6500	SO:0001819	synonymous_variant	2843	exon2			GCCTTCGGGCCGC	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.465C>T	8.37:g.142367559G>A		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	30	20	0.666667	NM_005293	Q17R96	Silent	SNP	ENST00000377741.3	37	CCDS34949.1																																																																																			G|0.364;A|0.636	0.636	strong		0.687	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367559	G	A	142367559	2	1	22	1	0	0	0	0	0	0	0	1	6680	1103	39	1		1	GPR20	8	142367559	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313	142367559	3996463	4969	10077										
BAI1	575	hgsc.bcm.edu	37	chr8	143599594	143599594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtcatcatctacgtgtcCgtgtggaggtgggtgccgcc	15	11	3	0	rs75573695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143599594C>T	ENST00000517894.1	+	19	3807	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	BAI1_ENST00000323289.5_Silent_p.S971S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	971					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCTACGTGTCCGTGTGGAGGT	0.632													C|||	247	0.0493211	0.1142	0.0187	5008	,	,		14503	0.0258		0.002	False		,,,				2504	0.0562				p.S971S		Atlas-SNP	.											.	BAI1	146	.	0			c.C2913T						PASS	.	C		384,4012	181.2+/-209.3	15,354,1829	148	152	151		2913	-3.8	1	8	dbSNP_132	151	9,8573	6.4+/-24.3	0,9,4282	no	coding-synonymous	BAI1	NM_001702.2		15,363,6111	TT,TC,CC		0.1049,8.7352,3.0282		971/1585	143599594	393,12585	2198	4291	6489	SO:0001819	synonymous_variant	575	exon18			CGTGTCCGTGTGG	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2913C>T	8.37:g.143599594C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	145	67	0.462069	NM_001702		Silent	SNP	ENST00000517894.1	37																																																																																				C|0.964;T|0.036	0.036	strong		0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143599594	C	T	143599594	2	4	22	1	0	0	0	0	0	0	0	1	1298	639	23	1		1	BAI1	8	143599594	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1232035	143599594	2764428	4970	10078										
JRK	8629	hgsc.bcm.edu	37	chr8	143746107	143746107	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacacacaacctctgctggCgacgtggcagcagggggccg	14	15	1	0	rs61747165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143746107C>T	ENST00000507178.2	-	0	1703							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctctgctggcgacgtggcag	0.682													C|||	63	0.0125799	0.0469	0.0014	5008	,	,		16019	0.0		0.0	False		,,,				2504	0.0				p.S457S		Atlas-SNP	.											.	.	.	.	0			c.G1371A						PASS	.	C	,	147,3827		0,147,1840	17	19	18		1371,1371	-6.5	0	8	dbSNP_129	18	1,8225		0,1,4112	no	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	0,148,5952	TT,TC,CC		0.0122,3.699,1.2131	,	457/557,457/569	143746107	148,12052	1987	4113	6100			8629	exon2			TGCTGGCGACGTG	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746107C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	52	38	0.730769	NM_003724	O75565	Silent	SNP	ENST00000507178.2	37																																																																																				C|0.992;T|0.008	0.008	strong		0.682	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		T	143746107	C	T	143746107	1	4	22	0	1	0	0	0	0	0	0	0	7964	755	27	1		1	JRK	8	143746107	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146513	143746107	2617915	4971	10079										
JRK	8629	hgsc.bcm.edu	37	chr8	143746399	143746399	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgctgaatatggcatcgTtcatgttgtagcgggcatgg	13	9	1	1	rs73379623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143746399T>C	ENST00000507178.2	-	0	1411							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tatggcatcgttcatgttgta	0.602													T|||	63	0.0125799	0.0469	0.0014	5008	,	,		18767	0.0		0.0	False		,,,				2504	0.0				p.N360S		Atlas-SNP	.											.	.	.	.	0			c.A1079G						PASS	.	T	SER/ASN,SER/ASN	137,3981		0,137,1922	9	10	10		1079,1079	1.4	0	8	dbSNP_130	10	1,8401		0,1,4200	yes	missense,missense	JRK	NM_001077527.1,NM_003724.2	46,46	0,138,6122	CC,CT,TT		0.0119,3.3269,1.1022	benign,benign	360/557,360/569	143746399	138,12382	2059	4201	6260			8629	exon2			GCATCGTTCATGT	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746399T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	91	43	0.472527	NM_003724	O75565	Missense_Mutation	SNP	ENST00000507178.2	37																																																																																				T|0.992;C|0.008	0.008	strong		0.602	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		C	143746399	T	C	143746399	1	2	22	0	1	0	0	0	0	0	0	0	7964	1725	60	2		2	JRK	8	143746399	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	292	143746399	2617623	4972	10080										
JRK	8629	hgsc.bcm.edu	37	chr8	143746414	143746414	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcgttcatgttgtagcggGcatgggggccctgcaggggg	18	9	1	0	rs115218091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143746414G>A	ENST00000507178.2	-	0	1396							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gttgtagcgggcatgggggcc	0.617													G|||	63	0.0125799	0.0469	0.0014	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0				p.A355V		Atlas-SNP	.											.	.	.	.	0			c.C1064T						PASS	.	G	VAL/ALA,VAL/ALA	67,3943		0,67,1938	8	9	9		1064,1064	3.7	0	8	dbSNP_132	9	1,8323		0,1,4161	yes	missense,missense	JRK	NM_001077527.1,NM_003724.2	64,64	0,68,6099	AA,AG,GG		0.012,1.6708,0.5513	benign,benign	355/557,355/569	143746414	68,12266	2005	4162	6167			8629	exon2			TAGCGGGCATGGG	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746414G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	88	38	0.431818	NM_003724	O75565	Missense_Mutation	SNP	ENST00000507178.2	37																																																																																				G|0.991;A|0.009	0.009	strong		0.617	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		A	143746414	G	A	143746414	1	1	22	0	1	0	0	0	0	0	0	0	7964	1203	42	2		2	JRK	8	143746414	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15	143746414	2617608	4973	10081										
JRK	8629	hgsc.bcm.edu	37	chr8	143746722	143746722	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccctgggccttataggcGacgggcaggtgctggatgcc	15	12	0	0	rs60195180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143746722G>A	ENST00000507178.2	-	0	1088							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ccttataggcgacgggcaggt	0.577													G|||	63	0.0125799	0.0469	0.0014	5008	,	,		18089	0.0		0.0	False		,,,				2504	0.0				p.V252V		Atlas-SNP	.											.	.	.	.	0			c.C756T						PASS	.	G	,	90,2688		0,90,1299	13	15	14		756,756	-7.2	0	8	dbSNP_129	14	3,5557		0,3,2777	no	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	0,93,4076	AA,AG,GG		0.054,3.2397,1.1154	,	252/557,252/569	143746722	93,8245	1389	2780	4169			8629	exon2			ATAGGCGACGGGC	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746722G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_003724	O75565	Silent	SNP	ENST00000507178.2	37																																																																																				G|0.992;A|0.008	0.008	strong		0.577	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		A	143746722	G	A	143746722	1	1	22	0	1	0	0	0	0	0	0	0	7964	1045	37	1		1	JRK	8	143746722	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	308	143746722	2617300	4974	10082										
SLURP1	57152	hgsc.bcm.edu	37	chr8	143822612	143822612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagaagatcaggtgggcGgccccgatgctgtcggggtc	17	11	1	2	rs62636564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143822612G>A	ENST00000246515.1	-	3	286	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	87					cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCAGGTGGGCGGCCCCGATGC	0.662													G|||	111	0.0221645	0.0802	0.0072	5008	,	,		15680	0.0		0.0	False		,,,				2504	0.0				p.A87A		Atlas-SNP	.											.	SLURP1	16	.	0			c.C261T						PASS	.	G		250,4156	143.5+/-178.5	7,236,1960	43	45	45		261	-7.5	0	8	dbSNP_129	45	5,8593	4.3+/-15.6	0,5,4294	no	coding-synonymous	SLURP1	NM_020427.2		7,241,6254	AA,AG,GG		0.0582,5.6741,1.9609		87/104	143822612	255,12749	2203	4299	6502	SO:0001819	synonymous_variant	57152	exon3			GTGGGCGGCCCCG	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"lymphocyte antigen 6-like secreted", "ARS component B"	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.261C>T	8.37:g.143822612G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	79	41	0.518987	NM_020427	Q53YJ6|Q6PUA6|Q92483	Silent	SNP	ENST00000246515.1	37	CCDS6387.1																																																																																			G|0.979;A|0.021	0.021	strong		0.662	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427		A	143822612	G	A	143822612	2	1	22	1	0	0	0	0	0	0	0	1	14756	1103	39	1		1	SLURP1	8	143822612	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75890	143822612	2541410	4975	10083										
GML	2765	hgsc.bcm.edu	37	chr8	143922620	143922620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtccgtatcatattaggCgctgtatgacaatctccatt	7	9	2	1	rs3764795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143922620C>T	ENST00000220940.1	+	3	250	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	54	UPAR/Ly6.		R -> C (in dbSNP:rs3764795).		apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCATATTAGGCGCTGTATGAC	0.463													c|||	1050	0.209665	0.1687	0.1311	5008	,	,		24940	0.4772		0.0497	False		,,,				2504	0.2096				p.R54C		Atlas-SNP	.											.	GML	34	.	0			c.C160T						PASS	.	C	CYS/ARG	670,3736		46,578,1579	220	181	194		160	2.5	1	8	dbSNP_107	194	461,8139		16,429,3855	yes	missense	GML	NM_002066.2	180	62,1007,5434	TT,TC,CC		5.3605,15.2065,8.696	probably-damaging	54/159	143922620	1131,11875	2203	4300	6503	SO:0001583	missense	2765	exon3			ATTAGGCGCTGTA	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.160C>T	8.37:g.143922620C>T	ENSP00000220940:p.Arg54Cys	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	195	91	0.466667	NM_002066	A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	CCDS6391.1	431	0.19734432234432234	78	0.15853658536585366	46	0.1270718232044199	269	0.47027972027972026	38	0.05013192612137203	N	15.17	2.754520	0.49362	0.152065	0.053605	ENSG00000104499	ENST00000522728;ENST00000220940	T;T	0.22743	1.94;1.94	3.43	2.55	0.30701	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	0.537042	0.15823	N	0.242906	T	0.00012	0.0000	L	0.58101	1.795	0.24373	P	0.99482382	D	0.89917	1.0	D	0.67900	0.954	T	0.46952	-0.9154	9	0.51188	T	0.08	-17.6019	6.8583	0.24052	0.0:0.8706:0.0:0.1294	rs3764795;rs56577850;rs60074823;rs3764795	54	Q99445	GML_HUMAN	C	54	ENSP00000430799:R54C;ENSP00000220940:R54C	ENSP00000220940:R54C	R	+	1	0	GML	143919622	0.832000	0.29368	0.957000	0.39632	0.103000	0.19146	0.608000	0.24223	1.001000	0.39076	0.650000	0.86243	CGC	C|0.855;T|0.145	0.145	strong		0.463	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		T	143922620	C	T	143922620	3	4	22	1	0	0	0	0	1	0	0	0	6492	768	27	1	166	1	GML	8	143922620	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100008	143922620	2441402	4976	10084										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143957163	143957163	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggccgcacgcagcaagggCagctcggtggttgccttctg	16	12	1	0	rs6403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143957163C>G	ENST00000292427.4	-	6	1118	c.1086G>C	c.(1084-1086)ctG>ctC	p.L362L	CYP11B1_ENST00000377675.3_Silent_p.L433L|CYP11B1_ENST00000517471.1_Silent_p.L362L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	362					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCAGCAAGGGCAGCTCGGTGG	0.697									Familial Hyperaldosteronism type I				.|||	729	0.145567	0.0144	0.0965	5008	,	,		16691	0.4395		0.0179	False		,,,				2504	0.1861				p.L362L		Atlas-SNP	.											.	CYP11B1	128	.	0			c.G1086C						PASS	.	C	,	88,4318		0,88,2115	68	70	70		1086,1086	1.3	1	8	dbSNP_52	70	169,8431		5,159,4136	no	coding-synonymous,coding-synonymous	CYP11B1	NM_000497.3,NM_001026213.1	,	5,247,6251	GG,GC,CC		1.9651,1.9973,1.976	,	362/504,362/438	143957163	257,12749	2203	4300	6503	SO:0001819	synonymous_variant	1584	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CAAGGGCAGCTCG	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1086G>C	8.37:g.143957163C>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	267	148	0.554307	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																			C|0.948;G|0.052	0.052	strong		0.697	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			G	143957163	C	G	143957163	2	3	22	1	0	0	0	0	0	0	0	1	4145	697	25	4		4	CYP11B1	8	143957163	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34543	143957163	2406859	4977	10085										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143958291	143958291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgctctccaaaaagagcCaagttgctggctgcggggag	14	11	1	1	rs61751154		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000517471.1_Silent_p.L202L|CYP11B1_ENST00000377675.3_Silent_p.L273L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0				p.L202L		Atlas-SNP	.											CYP11B1,right_lower_lobe,carcinoma,0,1	CYP11B1	128	1	0			c.G606A						scavenged	.						37	38	38					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	1584	exon4	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	AAGAGCCAAGTTG	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	184	24	0.130435	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																			C|0.025;T|0.975	0.975	strong		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143958291	C	T	143958291	2	4	22	1	0	0	0	0	0	0	0	1	4145	593	21	2		2	CYP11B1	8	143958291	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1128	143958291	2405731	4978	10086										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143961102	143961102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacctgttgcctggacgcCggggcatggcttcaaagggc	15	13	1	0	rs4534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143961102C>T	ENST00000292427.4	-	1	160	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R43Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R43Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	43			R -> Q (in dbSNP:rs4534). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:2401360}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCCTGGACGCCGGGGCATGGC	0.642									Familial Hyperaldosteronism type I				.|||	737	0.147165	0.0182	0.0965	5008	,	,		19736	0.4425		0.0179	False		,,,				2504	0.1861				p.R43Q		Atlas-SNP	.											.	CYP11B1	128	.	0			c.G128A	GRCh37	HM972174	CYP11B1	M	rs4534	PASS	.	C	GLN/ARG,GLN/ARG	102,4304	81.9+/-120.4	0,102,2101	66	62	63		128,128	-4.5	0	8	dbSNP_52	63	169,8431	77.5+/-140.1	5,159,4136	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	43,43	5,261,6237	TT,TC,CC		1.9651,2.315,2.0837	benign,benign	43/504,43/438	143961102	271,12735	2203	4300	6503	SO:0001583	missense	1584	exon1	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	GGACGCCGGGGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.128G>A	8.37:g.143961102C>T	ENSP00000292427:p.Arg43Gln	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	166	84	0.506024	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	298	0.13644688644688643	11	0.022357723577235773	31	0.0856353591160221	247	0.4318181818181818	9	0.011873350923482849	C	0.009	-1.852652	0.00563	0.02315	0.019651	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73258	-0.32;-0.32;-0.73	2.96	-4.5	0.03493	.	1.282380	0.06023	N	0.651646	T	0.00012	0.0000	N	0.01742	-0.745	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.19811	-1.0294	9	0.25751	T	0.34	.	6.461	0.21956	0.0:0.3986:0.0:0.6014	rs4534;rs16914260;rs52795252;rs4534	43;43;43	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	43	ENSP00000292427:R43Q;ENSP00000428043:R43Q;ENSP00000366903:R43Q	ENSP00000292427:R43Q	R	-	2	0	CYP11B1	143958104	0.001000	0.12720	0.001000	0.08648	0.081000	0.17604	-0.029000	0.12329	-0.469000	0.06911	-1.358000	0.01219	CGG	C|0.920;T|0.080	0.080	strong		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143961102	C	T	143961102	3	4	22	1	0	0	0	0	1	0	0	0	4145	652	23	1	1419	1	CYP11B1	8	143961102	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2811	143961102	2402920	4979	10087										
CYP11B2	1585	hgsc.bcm.edu	37	chr8	143994279	143994279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctcaccactcgctccaAaaacagacccacagggtaga	8	14	1	3	rs61757295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:143994279A>G	ENST00000323110.2	-	7	1146	c.1144T>C	c.(1144-1146)Ttg>Ctg	p.L382L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ACTCGCTCCAAAAACAGACCC	0.597									Familial Hyperaldosteronism type I				.|||	200	0.0399361	0.0416	0.0288	5008	,	,		15944	0.0546		0.0089	False		,,,				2504	0.0624				p.L382L		Atlas-SNP	.											CYP11B2,NS,carcinoma,+2,1	CYP11B2	107	1	0			c.T1144C						scavenged	.						68	66	66					8																	143994279		2202	4300	6502	SO:0001819	synonymous_variant	1585	exon7	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	GCTCCAAAAACAG	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1144T>C	8.37:g.143994279A>G		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	122	16	0.131148	NM_000498	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																			A|0.988;G|0.012	0.012	strong		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			G	143994279	A	G	143994279	2	3	22	1	0	0	0	0	0	0	0	1	4146	11	1	2		2	CYP11B2	8	143994279	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33177	143994279	2369743	4980	10088										
C8orf31	286122	hgsc.bcm.edu	37	chr8	144126087	144126087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgccctctgccctggcaCcccagggactcactgccaaa	8	19	2	0	rs73717943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144126087C>A	ENST00000395172.1	+	4	560	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	70										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCCTGGCACCCCAGGGACT	0.627													c|||	115	0.0229633	0.084	0.0058	5008	,	,		14974	0.0		0.0	False		,,,				2504	0.0				p.P70T		Atlas-SNP	.											.	C8orf31	18	.	0			c.C208A						PASS	.	C	THR/PRO	323,4083	170.1+/-200.6	7,309,1887	69	60	63		208	-2.7	0	8	dbSNP_130	63	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C8orf31	NM_173687.2	38	7,311,6185	AA,AC,CC		0.0233,7.3309,2.4988	benign	70/133	144126087	325,12681	2203	4300	6503	SO:0001583	missense	286122	exon4			CTGGCACCCCAGG		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.208C>A	8.37:g.144126087C>A	ENSP00000378601:p.Pro70Thr	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	59	33	0.559322	NM_173687	Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	CCDS6395.1	46	0.021062271062271064	43	0.08739837398373984	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	c	0.019	-1.466214	0.01053	0.073309	2.33E-4	ENSG00000177335	ENST00000395172	T	0.57595	0.39	1.37	-2.73	0.05950	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.05500	-1.0881	9	0.87932	D	0	.	0.828	0.01124	0.2674:0.3758:0.1668:0.19	.	70	Q8N9H6	CH031_HUMAN	T	70	ENSP00000378601:P70T	ENSP00000378601:P70T	P	+	1	0	C8orf31	144197462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.991000	0.01478	-2.249000	0.00702	-1.735000	0.00691	CCC	C|0.973;A|0.027	0.027	strong		0.627	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		A	144126087	C	A	144126087	3	1	22	1	0	0	0	0	1	0	0	0	2420	507	18	4	218	4	C8orf31	8	144126087	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	131808	144126087	2237935	4981	10089										
LY6H	4062	hgsc.bcm.edu	37	chr8	144239859	144239859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgtcgcttaacgaagtcAcaggaggaggcacacatctt	11	9	2	0	rs10109061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144239859A>G	ENST00000430474.2	-	4	396	c.231T>C	c.(229-231)tgT>tgC	p.C77C	LY6H_ENST00000414417.2_Silent_p.C98C|LY6H_ENST00000342752.4_Silent_p.C98C	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	77	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.C77C(1)		endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAACGAAGTCACAGGAGGAGG	0.537													G|||	2194	0.438099	0.7156	0.3343	5008	,	,		20246	0.2827		0.4036	False		,,,				2504	0.3323				p.C98C		Atlas-SNP	.											LY6H,NS,carcinoma,0,1	LY6H	12	1	1	Substitution - coding silent(1)	stomach(1)	c.T294C						scavenged	.	G	,,	2878,1528	484.6+/-360.1	947,984,272	107	106	107		294,294,231	-6	0.4	8	dbSNP_119	107	3756,4844	616.1+/-396.5	813,2130,1357	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	1760,3114,1629	GG,GA,AA		43.6744,34.68,48.9928	,,	98/162,98/162,77/141	144239859	6634,6372	2203	4300	6503	SO:0001819	synonymous_variant	4062	exon4			GAAGTCACAGGAG	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.231T>C	8.37:g.144239859A>G		Somatic	86	1	0.0116279		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_001135655	B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	CCDS6396.1																																																																																			A|0.509;G|0.491	0.491	strong		0.537	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			G	144239859	A	G	144239859	2	3	22	1	0	0	0	0	0	0	0	1	9097	157	6	2		2	LY6H	8	144239859	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113772	144239859	2124163	4982	10090										
LY6H	4062	hgsc.bcm.edu	37	chr8	144240257	144240257	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcggacactggcacacacCgtgtcggacggctggcactg	13	13	0	0	rs9694368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144240257C>G	ENST00000430474.2	-	3	315	c.150G>C	c.(148-150)acG>acC	p.T50T	LY6H_ENST00000342752.4_Silent_p.T71T|LY6H_ENST00000414417.2_Silent_p.T71T	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	50	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T50T(1)		endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGCACACACCGTGTCGGACG	0.602													C|||	1610	0.321486	0.3101	0.2968	5008	,	,		16990	0.2768		0.3917	False		,,,				2504	0.3282				p.T71T		Atlas-SNP	.											LY6H,NS,carcinoma,0,1	LY6H	12	1	1	Substitution - coding silent(1)	stomach(1)	c.G213C						PASS	.	C	,,	1375,3031	453.2+/-350.3	209,957,1037	154	124	134		213,213,150	-6.5	0.8	8	dbSNP_119	134	3680,4920	527.3+/-381.1	774,2132,1394	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	983,3089,2431	GG,GC,CC		42.7907,31.2074,38.8667	,,	71/162,71/162,50/141	144240257	5055,7951	2203	4300	6503	SO:0001819	synonymous_variant	4062	exon3			ACACACCGTGTCG	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.150G>C	8.37:g.144240257C>G		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	135	73	0.540741	NM_001135655	B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	CCDS6396.1																																																																																			C|0.620;G|0.380	0.380	strong		0.602	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			G	144240257	C	G	144240257	2	3	22	1	0	0	0	0	0	0	0	1	9097	639	23	4		4	LY6H	8	144240257	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	398	144240257	2123765	4983	10091										
RHPN1	114822	hgsc.bcm.edu	37	chr8	144464073	144464073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgacggagctgaaggctGcgggagaggcgggcgccagc	21	9	0	3	rs34746679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144464073G>A	ENST00000289013.6	+	14	1833	c.1732G>A	c.(1732-1734)Gcg>Acg	p.A578T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	603	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGAAGGCTGCGGGAGAGGC	0.682													G|||	39	0.00778754	0.0287	0.0014	5008	,	,		15201	0.0		0.0	False		,,,				2504	0.0				p.A578T		Atlas-SNP	.											RHPN1_ENST00000289013,NS,carcinoma,-1,2	RHPN1	76	2	0			c.G1732A						PASS	.	G	THR/ALA	90,4180		3,84,2048	29	46	41		1732	1.7	0	8	dbSNP_126	41	3,8489		0,3,4243	yes	missense	RHPN1	NM_052924.2	58	3,87,6291	AA,AG,GG		0.0353,2.1077,0.7287	benign	578/671	144464073	93,12669	2135	4246	6381	SO:0001583	missense	114822	exon14			AAGGCTGCGGGAG	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1732G>A	8.37:g.144464073G>A	ENSP00000289013:p.Ala578Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	139	79	0.568345	NM_052924	Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	G	6.274	0.418750	0.11870	0.021077	3.53E-4	ENSG00000158106	ENST00000289013	T	0.27557	1.66	4.59	1.73	0.24493	.	0.587122	0.17709	N	0.164651	T	0.04092	0.0114	N	0.25789	0.76	0.09310	N	1	B	0.17852	0.024	B	0.17979	0.02	T	0.16719	-1.0393	10	0.25751	T	0.34	-10.2882	6.9391	0.24483	0.4169:0.0:0.5831:0.0	rs34746679	578	Q8TCX5-2	.	T	578	ENSP00000289013:A578T	ENSP00000289013:A578T	A	+	1	0	RHPN1	144535216	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.119000	0.15626	0.349000	0.23975	0.462000	0.41574	GCG	G|0.989;A|0.011	0.011	strong		0.682	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			A	144464073	G	A	144464073	3	1	22	1	0	0	0	0	1	0	0	0	13350	1319	46	2	1786	2	RHPN1	8	144464073	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	223816	144464073	1899949	4984	10092										
ZC3H3	23144	hgsc.bcm.edu	37	chr8	144522387	144522387	+	Nonsense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaggaagcgggaggggatGaggaggaggaggaggaggag					rs2272754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144522387G>T	ENST00000262577.5	-	11	2670	c.2639C>A	c.(2638-2640)tCa>tAa	p.S880*		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	880	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggagga	0.652													G|||	560	0.111821	0.0363	0.1167	5008	,	,		17078	0.2431		0.1461	False		,,,				2504	0.0399				p.S880X		Atlas-SNP	.											.	ZC3H3	75	.	0			c.C2639A						PASS	.	G	stop/SER	220,4186		8,204,1991	29	28	29		2639	1.1	0	8	dbSNP_100	29	943,7655		116,711,3472	yes	stop-gained	ZC3H3	NM_015117.2		124,915,5463	TT,TG,GG		10.9677,4.9932,8.9434		880/949	144522387	1163,11841	2203	4299	6502	SO:0001587	stop_gained	23144	exon11			GGGGATGAGGAGG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2639C>A	8.37:g.144522387G>T	ENSP00000262577:p.Ser880*	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	108	62	0.574074	NM_015117	Q14163|Q8N4E2|Q9BUS4	Nonsense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	273	0.125	25	0.0508130081300813	42	0.11602209944751381	122	0.21328671328671328	84	0.11081794195250659	G	27.7	4.854259	0.91355	0.049932	0.109677	ENSG00000014164	ENST00000262577	.	.	.	4.25	1.07	0.20283	.	2.759650	0.01499	N	0.017425	.	.	.	.	.	.	0.09310	P	0.9999999999699166	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	2.0487	8.7374	0.34537	0.0967:0.5505:0.3527:0.0	rs2272754	.	.	.	X	880	.	ENSP00000262577:S880X	S	-	2	0	ZC3H3	144593530	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.528000	0.06193	-0.133000	0.11537	-0.444000	0.05651	TCA	G|0.879;T|0.121	0.121	strong		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		T	144522387	G	T	144522387	4	4	22	1	0	0	0	0	0	1	0	0	17566	1294	45	4	215	4	ZC3H3	8	144522387	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58314	144522387	1841635	4985	10093	211	2								
ZC3H3	23144	hgsc.bcm.edu	37	chr8	144522388	144522388	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggaagcgggaggggatgAggaggaggaggaggaggagg					rs2272753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144522388A>T	ENST00000262577.5	-	11	2669	c.2638T>A	c.(2638-2640)Tca>Aca	p.S880T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	880	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			ggaggggatgaggaggaggag	0.652													A|||	560	0.111821	0.0363	0.1167	5008	,	,		16934	0.2431		0.1461	False		,,,				2504	0.0399				p.S880T		Atlas-SNP	.											.	ZC3H3	75	.	0			c.T2638A						PASS	.	A	THR/SER	208,4198		8,192,2003	29	28	29		2638	-8.5	0	8	dbSNP_100	29	945,7653		118,709,3472	no	missense	ZC3H3	NM_015117.2	58	126,901,5475	TT,TA,AA		10.9909,4.7208,8.8665	possibly-damaging	880/949	144522388	1153,11851	2203	4299	6502	SO:0001583	missense	23144	exon11			GGGATGAGGAGGA	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2638T>A	8.37:g.144522388A>T	ENSP00000262577:p.Ser880Thr	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	62	0.574074	NM_015117	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	273	0.125	24	0.04878048780487805	42	0.11602209944751381	124	0.21678321678321677	83	0.10949868073878628	A	10.21	1.288569	0.23478	0.047208	0.109909	ENSG00000014164	ENST00000262577	T	0.44083	0.93	4.25	-8.5	0.00927	.	2.759650	0.01499	N	0.017425	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	B	0.23650	0.089	B	0.18263	0.021	T	0.07927	-1.0747	9	0.11794	T	0.64	2.0487	4.56	0.12156	0.1813:0.3576:0.3664:0.0948	rs2272753	880	Q8IXZ2	ZC3H3_HUMAN	T	880	ENSP00000262577:S880T	ENSP00000262577:S880T	S	-	1	0	ZC3H3	144593531	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-4.369000	0.00245	-2.892000	0.00315	-0.605000	0.04089	TCA	A|0.879;T|0.121	0.121	strong		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		T	144522388	A	T	144522388	3	4	22	1	0	0	0	0	1	0	0	0	17566	304	11	5	216	5	ZC3H3	8	144522388	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	144522388	1841634	4986	10094	211	2								
GSDMD	79792	hgsc.bcm.edu	37	chr8	144641514	144641514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcaggagcatggggtcGgcctttgagcgggtagtccg	16	11	1	1	rs7840446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144641514G>T	ENST00000526406.1	+	5	892	c.9G>T	c.(7-9)tcG>tcT	p.S3S	GSDMD_ENST00000262580.4_Silent_p.S3S|GSDMD_ENST00000533063.1_Silent_p.S51S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	3					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCATGGGGTCGGCCTTTGAGC	0.627													G|||	165	0.0329473	0.121	0.0058	5008	,	,		10930	0.0		0.001	False		,,,				2504	0.0				p.S3S		Atlas-SNP	.											.	GSDMD	28	.	0			c.G9T						PASS	.	G	,	383,4023	190.2+/-216.2	15,353,1835	63	58	60		9,9	-9.4	0	8	dbSNP_116	60	4,8594	3.0+/-9.4	0,4,4295	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	15,357,6130	TT,TG,GG		0.0465,8.6927,2.976	,	3/485,3/485	144641514	387,12617	2203	4299	6502	SO:0001819	synonymous_variant	79792	exon5			GGGGTCGGCCTTT	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.9G>T	8.37:g.144641514G>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	79	48	0.607595	NM_001166237	D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	CCDS34956.1																																																																																			G|0.971;T|0.029	0.029	strong		0.627	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		T	144641514	G	T	144641514	2	4	22	1	0	0	0	0	0	0	0	1	6819	1103	39	4		4	GSDMD	8	144641514	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	119126	144641514	1722508	4987	10095										
GSDMD	79792	hgsc.bcm.edu	37	chr8	144644405	144644405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggccagagccttgggccGgtggagcccctggacggtcc	17	14	0	1	rs11551198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144644405G>A	ENST00000526406.1	+	12	1906	c.1023G>A	c.(1021-1023)ccG>ccA	p.P341P	GSDMD_ENST00000262580.4_Silent_p.P341P|GSDMD_ENST00000533063.1_Silent_p.P389P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	341					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTTGGGCCGGTGGAGCCCC	0.682													G|||	659	0.131589	0.1104	0.1311	5008	,	,		11253	0.0357		0.2256	False		,,,				2504	0.1626				p.P341P		Atlas-SNP	.											.	GSDMD	28	.	0			c.G1023A						PASS	.	G	,	461,3877		38,385,1746	22	21	21		1023,1023	-0.7	0	8	dbSNP_120	21	1797,6753		189,1419,2667	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	227,1804,4413	AA,AG,GG		21.0175,10.627,17.5202	,	341/485,341/485	144644405	2258,10630	2169	4275	6444	SO:0001819	synonymous_variant	79792	exon12			TGGGCCGGTGGAG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1023G>A	8.37:g.144644405G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	20	8	0.4	NM_001166237	D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	CCDS34956.1	285	0.1304945054945055	65	0.13211382113821138	46	0.1270718232044199	14	0.024475524475524476	160	0.21108179419525067	G	3.369	-0.128730	0.06753	0.10627	0.210175	ENSG00000104518	ENST00000525208	.	.	.	4.39	-0.686	0.11324	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24548	-1.0157	3	.	.	.	-8.7647	2.2659	0.04078	0.1647:0.124:0.4583:0.253	rs11551198	.	.	.	S	37	.	.	G	+	1	0	GSDMD	144715548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.121000	0.15667	-0.385000	0.07833	-1.193000	0.01689	GGT	G|0.851;A|0.149	0.149	strong		0.682	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		A	144644405	G	A	144644405	2	1	22	1	0	0	0	0	0	0	0	1	6819	1103	39	1		1	GSDMD	8	144644405	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2891	144644405	1719617	4988	10096										
C8orf73	642475	hgsc.bcm.edu	37	chr8	144652780	144652780	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtagaagcccctcgtggcTcccacgcagcccgaaacagc	12	16	0	1	rs11990485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144652780T>A	ENST00000398882.3	-	5	1024	c.768A>T	c.(766-768)ggA>ggT	p.G256G	MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000524906.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	256																	CCCTCGTGGCTCCCACGCAGC	0.662													T|||	70	0.0139776	0.0522	0.0014	5008	,	,		12771	0.0		0.0	False		,,,				2504	0.0				p.G256G		Atlas-SNP	.											.	.	.	.	0			c.A768T						PASS	.	T		171,3991		2,167,1912	30	35	34		768	-0.9	1	8	dbSNP_120	34	1,8441		0,1,4220	no	coding-synonymous	C8orf73	NM_001100878.1		2,168,6132	AA,AT,TT		0.0118,4.1086,1.3646		256/720	144652780	172,12432	2081	4221	6302	SO:0001819	synonymous_variant	642475	exon5			CGTGGCTCCCACG	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.768A>T	8.37:g.144652780T>A		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	27	14	0.518519	NM_001100878	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.989;A|0.011	0.011	strong		0.662	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		A	144652780	T	A	144652780	2	1	22	1	0	0	0	0	0	0	0	1	2435	1538	54	5		5	C8orf73	8	144652780	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8375	144652780	1711242	4989	10097										
C8orf73	642475	hgsc.bcm.edu	37	chr8	144654249	144654249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccagggctgaggacaggGtgagcactgtcgcctgggtc	16	12	0	2	rs386731217|rs10866911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144654249G>A	ENST00000398882.3	-	2	657	c.401C>T	c.(400-402)aCc>aTc	p.T134I	MROH6_ENST00000533679.1_5'Flank|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	134			T -> I (in dbSNP:rs10866911).														TGAGGACAGGGTGAGCACTGT	0.652													G|||	1604	0.320288	0.1135	0.4135	5008	,	,		14836	0.3562		0.5229	False		,,,				2504	0.2883				p.T134I		Atlas-SNP	.											.	.	.	.	0			c.C401T						PASS	.	G	ILE/THR	690,3340		63,564,1388	23	27	26		401	-1.4	0.8	8	dbSNP_120	26	4386,3968		1196,1994,987	yes	missense	C8orf73	NM_001100878.1	89	1259,2558,2375	AA,AG,GG		47.4982,17.1216,40.9884	probably-damaging	134/720	144654249	5076,7308	2015	4177	6192	SO:0001583	missense	642475	exon2			GACAGGGTGAGCA	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.401C>T	8.37:g.144654249G>A	ENSP00000381857:p.Thr134Ile	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	159	79	0.496855	NM_001100878	A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	CCDS47928.1	822	0.37637362637362637	62	0.12601626016260162	176	0.4861878453038674	184	0.32167832167832167	400	0.5277044854881267	G	15.51	2.853888	0.51270	0.171216	0.525018	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.24350	4.19;1.86	4.3	-1.38	0.09027	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.26688	P	0.9714051	B;B	0.19583	0.037;0.004	B;B	0.17433	0.018;0.003	T	0.47005	-0.9150	8	0.15952	T	0.53	-21.3409	6.1376	0.20241	0.2014:0.4988:0.2998:0.0	rs10866911;rs58968135	134;134	E9PPP7;A6NGR9	.;CH073_HUMAN	I	134	ENSP00000381857:T134I;ENSP00000436959:T134I	ENSP00000381857:T134I	T	-	2	0	C8orf73	144725392	0.990000	0.36364	0.806000	0.32338	0.652000	0.38707	1.349000	0.33998	-0.139000	0.11414	-0.519000	0.04390	ACC	G|0.611;A|0.389	0.389	strong		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		A	144654249	G	A	144654249	3	1	22	1	0	0	0	0	1	0	0	0	2435	1261	44	2	1810	2	C8orf73	8	144654249	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1469	144654249	1709773	4990	10098										
C8orf73	642475	hgsc.bcm.edu	37	chr8	144654693	144654693	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtccaggctctgcctcagaGggggcggtgagtgcctgggt	18	11	2	2	rs4873804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144654693G>C	ENST00000398882.3	-	1	448	c.192C>G	c.(190-192)ccC>ccG	p.P64P	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	64																	CTGCCTCAGAGGGGGCGGTGA	0.706													g|||	1597	0.31889	0.1067	0.415	5008	,	,		13924	0.3562		0.5239	False		,,,				2504	0.2883				p.P64P		Atlas-SNP	.											C8orf73_ENST00000398882,NS,carcinoma,0,2	.	.	2	0			c.C192G						PASS	.			651,3315		56,539,1388	16	20	19		192	-1.1	0	8	dbSNP_111	19	4348,3946		1199,1950,998	no	coding-synonymous	C8orf73	NM_001100878.1		1255,2489,2386	CC,CG,GG		47.5766,16.4145,40.7749		64/720	144654693	4999,7261	1983	4147	6130	SO:0001819	synonymous_variant	642475	exon1			CTCAGAGGGGGCG	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.192C>G	8.37:g.144654693G>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_001100878	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			G|0.624;C|0.376	0.376	strong		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144654693	G	C	144654693	2	2	22	1	0	0	0	0	0	0	0	1	2435	987	35	4		4	C8orf73	8	144654693	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	444	144654693	1709329	4991	10099										
NAPRT1	93100	hgsc.bcm.edu	37	chr8	144658711	144658711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagctctcccagggccaGggcgactgctaggaagttgg	15	13	1	0	rs872935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144658711G>A	ENST00000449291.2	-	7	1207	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	NAPRT1_ENST00000435154.3_Silent_p.L305L|NAPRT1_ENST00000276844.7_Silent_p.L305L|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000426292.3_Silent_p.L305L																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGGCCAGGGCGACTGCT	0.627													G|||	1990	0.397364	0.1672	0.4611	5008	,	,		17958	0.3938		0.6262	False		,,,				2504	0.4315				p.L305L		Atlas-SNP	.											.	NAPRT1	47	.	0			c.C913T						PASS	.	G		1024,3376	356.4+/-313.5	121,782,1297	27	27	27		913	1.4	0.7	8	dbSNP_86	27	5389,3211	629.3+/-398.2	1704,1981,615	no	coding-synonymous	NAPRT1	NM_145201.4		1825,2763,1912	AA,AG,GG		37.3372,23.2727,49.3308		305/539	144658711	6413,6587	2200	4300	6500	SO:0001819	synonymous_variant	93100	exon7			GGGCCAGGGCGAC																												ENST00000449291.2:c.913C>T	8.37:g.144658711G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	28	0.538462	NM_145201		Silent	SNP	ENST00000449291.2	37	CCDS6403.2																																																																																			G|0.525;C|0.000;A|0.475	0.475	strong		0.627	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			A	144658711	G	A	144658711	2	1	22	1	0	0	0	0	0	0	0	1	10165	991	35	2		2	NAPRT1	8	144658711	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4018	144658711	1705311	4992	10100										
EEF1D	1936	hgsc.bcm.edu	37	chr8	144662353	144662353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacacaggcctccagctgGgccatgtccgtctcatcatc	9	17	2	0	rs1062391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144662353G>A	ENST00000529272.1	-	7	1036	c.636C>T	c.(634-636)gcC>gcT	p.A212A	EEF1D_ENST00000528610.1_Silent_p.A188A|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000419152.2_Silent_p.A212A|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Silent_p.A169A|EEF1D_ENST00000532741.1_Silent_p.A628A|EEF1D_ENST00000526838.1_Silent_p.A193A|EEF1D_ENST00000524624.1_Silent_p.A188A|EEF1D_ENST00000442189.2_Silent_p.A578A|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000423316.2_Silent_p.A578A|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Silent_p.A212A|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000395119.3_Silent_p.A212A|NAPRT1_ENST00000426292.3_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	212	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCTCCAGCTGGGCCATGTCCG	0.617													G|||	1873	0.374002	0.0983	0.4539	5008	,	,		18011	0.3998		0.6163	False		,,,				2504	0.4141				p.A578A		Atlas-SNP	.											.	EEF1D	48	.	0			c.C1734T						PASS	.	G	,,,,,,	763,3643	301.3+/-286.8	75,613,1515	30	34	32		1734,636,564,636,579,636,1734	-0.8	1	8	dbSNP_86	32	5359,3239	638.1+/-399.3	1697,1965,637	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	1772,2578,2152	AA,AG,GG		37.6716,17.3173,47.0778	,,,,,,	578/648,212/282,188/258,212/282,193/263,212/282,578/648	144662353	6122,6882	2203	4299	6502	SO:0001819	synonymous_variant	1936	exon9			CAGCTGGGCCATG	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.636C>T	8.37:g.144662353G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	160	91	0.56875	NM_001130053	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1	939	0.42994505494505497	73	0.1483739837398374	193	0.5331491712707183	206	0.36013986013986016	467	0.6160949868073878	G	11.05	1.524662	0.27299	0.173173	0.623284	ENSG00000104529	ENST00000530109	.	.	.	4.84	-0.8	0.10897	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999881695	.	.	.	.	.	.	T	0.43310	-0.9399	3	.	.	.	.	4.35	0.11151	0.0701:0.2956:0.3294:0.3049	rs1062391;rs1563149;rs2070239;rs3203458;rs1062391	.	.	.	S	87	.	.	P	-	1	0	EEF1D	144733496	0.056000	0.20664	0.991000	0.47740	0.956000	0.61745	-0.747000	0.04823	-0.058000	0.13177	-0.237000	0.12165	CCA	G|0.563;A|0.437	0.437	strong		0.617	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144662353	G	A	144662353	2	1	22	1	0	0	0	0	0	0	0	1	4926	1219	43	2		2	EEF1D	8	144662353	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3642	144662353	1701669	4993	10101										
EEF1D	1936	hgsc.bcm.edu	37	chr8	144671489	144671489	+	Intron	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcgcaccttccctggggGatggccgtcaaacagggcct	14	14	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144671489G>C	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.P305A|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.P255A|EEF1D_ENST00000423316.2_Missense_Mutation_p.P255A			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTCCCTGGGGGATGGCCGTCA	0.697																																					p.P255A		Atlas-SNP	.											.	EEF1D	48	.	0			c.C763G						PASS	.						5	7	6					8																	144671489		2037	4109	6146	SO:0001627	intron_variant	1936	exon3			CTGGGGGATGGCC	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2470C>G	8.37:g.144671489G>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	25	0.390625	NM_001130053	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470797	0.43942	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369;ENST00000526710;ENST00000531281	.	.	.	4.4	4.4	0.53042	.	0.309039	0.29940	N	0.010803	T	0.51312	0.1667	L	0.44542	1.39	0.80722	D	1	P;P;P	0.50528	0.894;0.894;0.936	B;B;P	0.50405	0.437;0.437;0.64	T	0.50381	-0.8835	9	0.45353	T	0.12	.	9.8627	0.41125	0.0939:0.0:0.9061:0.0	.	255;305;255	D3DWK1;E9PRY8;P29692-2	.;.;.	A	305;255;255;207;255;255;255	.	ENSP00000338323:P255A	P	-	1	0	EEF1D	144742632	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	3.368000	0.52357	2.277000	0.76020	0.561000	0.74099	CCC	.	.	none		0.697	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		C	144671489	G	C	144671489	1	2	22	0	1	0	0	0	0	0	0	0	4926	1174	41	4		4	EEF1D	8	144671489	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9136	144671489	1692533	4994	10102										
PYCRL	65263	hgsc.bcm.edu	37	chr8	144688736	144688736	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcagatgctgcaggagCttggtctcgctgctccccac	11	15	1	1	rs2242090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144688736C>G	ENST00000220966.6	-	4	515	c.486G>C	c.(484-486)aaG>aaC	p.K162N	PYCRL_ENST00000377579.3_Missense_Mutation_p.K13N|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	150					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCTGCAGGAGCTTGGTCTCGC	0.667													C|||	1638	0.327077	0.0809	0.3977	5008	,	,		17053	0.3879		0.5239	False		,,,				2504	0.3446				p.K162N		Atlas-SNP	.											PYCRL,NS,carcinoma,0,2	PYCRL	14	2	0			c.G486C						PASS	.	C	ASN/LYS	604,3800	254.0+/-259.7	48,508,1646	46	36	40		486	0.5	0.2	8	dbSNP_98	40	4632,3966	585.0+/-391.8	1296,2040,963	no	missense	PYCRL	NM_023078.3	94	1344,2548,2609	GG,GC,CC		46.127,13.7148,40.2707	benign	162/287	144688736	5236,7766	2202	4299	6501	SO:0001583	missense	65263	exon4			CAGGAGCTTGGTC	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.486G>C	8.37:g.144688736C>G	ENSP00000220966:p.Lys162Asn	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	190	89	0.468421	NM_023078	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	CCDS6407.2	820	0.37545787545787546	53	0.10772357723577236	172	0.47513812154696133	198	0.34615384615384615	397	0.5237467018469657	C	8.270	0.813088	0.16537	0.137148	0.53873	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	T;T;T	0.80123	-0.07;-1.34;-0.07	5.05	0.47	0.16747	.	0.767289	0.12455	N	0.467428	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.39542	-0.9609	6	0.39692	T	0.17	-0.0352	1.6791	0.02828	0.1426:0.42:0.1402:0.2972	rs2242090;rs17845144;rs17857947	.	.	.	N	162;13;137	ENSP00000220966:K162N;ENSP00000366802:K13N;ENSP00000404493:K137N	ENSP00000220966:K162N	K	-	3	2	PYCRL	144759879	0.000000	0.05858	0.207000	0.23584	0.583000	0.36354	-0.340000	0.07821	0.166000	0.19597	0.462000	0.41574	AAG	C|0.608;G|0.392	0.392	strong		0.667	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		G	144688736	C	G	144688736	3	3	22	1	0	0	0	0	1	0	0	0	12857	796	28	4	386	4	PYCRL	8	144688736	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17247	144688736	1675286	4995	10103										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144941181	144941181	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgttcactgggaacagcaGccagcccgtgtcctcttgtg	11	13	2	0	rs7839934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144941181G>C	ENST00000525985.1	-	2	6312	c.6241C>G	c.(6241-6243)Ctg>Gtg	p.L2081V				P58107	EPIPL_HUMAN	epiplakin 1	2081						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGAACAGCAGCCAGCCCGTG	0.592													g|||	1432	0.285942	0.2254	0.2997	5008	,	,		20148	0.2669		0.2575	False		,,,				2504	0.407				p.L2081V		Atlas-SNP	.											.	EPPK1	199	.	0			c.C6241G						PASS	.	C	VAL/LEU	960,3348		104,752,1298	66	73	71		6241	-1.8	0	8	dbSNP_116	71	2179,6351		285,1609,2371	yes	missense	EPPK1	NM_031308.1	32	389,2361,3669	CC,CG,GG		25.5451,22.2841,24.4508	benign	2081/2420	144941181	3139,9699	2154	4265	6419	SO:0001583	missense	83481	exon1			ACAGCAGCCAGCC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6241C>G	8.37:g.144941181G>C	ENSP00000436337:p.Leu2081Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	120	61	0.508333	NM_031308	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		567	0.25961538461538464	116	0.23577235772357724	104	0.287292817679558	148	0.25874125874125875	199	0.262532981530343	g	3.474	-0.107219	0.06924	0.222841	0.255451	ENSG00000227184	ENST00000525985	T	0.69040	-0.37	4.41	-1.77	0.07982	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	7	0.15952	T	0.53	.	5.5162	0.16908	0.0:0.3982:0.2789:0.3229	rs7839934;rs7839934	2081	E9PPU0	.	V	2081	ENSP00000436337:L2081V	ENSP00000436337:L2081V	L	-	1	2	EPPK1	145013169	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-2.297000	0.01141	-0.861000	0.04094	-3.661000	0.00025	CTG	G|0.737;C|0.263	0.263	strong		0.592	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		C	144941181	G	C	144941181	3	2	22	1	0	0	0	0	1	0	0	0	5190	962	34	4	1025	4	EPPK1	8	144941181	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	252445	144941181	1422841	4996	10104										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144942097	144942097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagttctggattgcaacacGtgtctcgtggcctcattgat	11	10	3	1	rs73375119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144942097G>A	ENST00000525985.1	-	2	5396	c.5325C>T	c.(5323-5325)caC>caT	p.H1775H				P58107	EPIPL_HUMAN	epiplakin 1	1775						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTGCAACACGTGTCTCGTGG	0.522													G|||	67	0.0133786	0.0477	0.0043	5008	,	,		20496	0.0		0.001	False		,,,				2504	0.0				p.H1775H		Atlas-SNP	.											EPPK1,NS,NS,-1,1	EPPK1	199	1	0			c.C5325T						PASS	.	G		178,3790		4,170,1810	125	120	122		5325	-10.2	0	8	dbSNP_130	122	1,8341		0,1,4170	no	coding-synonymous	EPPK1	NM_031308.1		4,171,5980	AA,AG,GG		0.012,4.4859,1.4541		1775/2420	144942097	179,12131	1984	4171	6155	SO:0001819	synonymous_variant	83481	exon1			CAACACGTGTCTC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5325C>T	8.37:g.144942097G>A		Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	260	132	0.507692	NM_031308	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				G|0.984;A|0.016	0.016	strong		0.522	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144942097	G	A	144942097	2	1	22	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144942097	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	916	144942097	1421925	4997	10105										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144942934	144942934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccacctgccgcagggcCgcagccctcccagaccgaca	10	20	0	2	rs114155737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144942934C>T	ENST00000525985.1	-	2	4559	c.4488G>A	c.(4486-4488)gcG>gcA	p.A1496A				P58107	EPIPL_HUMAN	epiplakin 1	1496						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCAGGGCCGCAGCCCTCC	0.672													C|||	59	0.0117812	0.0416	0.0043	5008	,	,		17427	0.0		0.001	False		,,,				2504	0.0				p.A1496A		Atlas-SNP	.											.	EPPK1	199	.	0			c.G4488A						PASS	.	C		163,4153		2,159,1997	19	22	21		4488	-9	0	8	dbSNP_132	21	4,8516		0,4,4256	no	coding-synonymous	EPPK1	NM_031308.1		2,163,6253	TT,TC,CC		0.0469,3.7766,1.301		1496/2420	144942934	167,12669	2158	4260	6418	SO:0001819	synonymous_variant	83481	exon1			CAGGGCCGCAGCC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4488G>A	8.37:g.144942934C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	25	16	0.64	NM_031308	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				C|0.987;T|0.013	0.013	strong		0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144942934	C	T	144942934	2	4	22	1	0	0	0	0	0	0	0	1	5190	639	23	1		1	EPPK1	8	144942934	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	837	144942934	1421088	4998	10106										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144946271	144946271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtggcctgtccactagcCccttcttcatggcctggaaa	9	15	2	0	rs58368323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144946271C>T	ENST00000525985.1	-	2	1222	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E				P58107	EPIPL_HUMAN	epiplakin 1	384						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCACTAGCCCCTTCTTCAT	0.672													C|||	224	0.0447284	0.1604	0.013	5008	,	,		15903	0.0		0.003	False		,,,				2504	0.0				p.G384E		Atlas-SNP	.											.	EPPK1	199	.	0			c.G1151A						PASS	.	C	GLU/GLY	400,3414		19,362,1526	6	7	7		1151	-1.4	0.7	8	dbSNP_129	7	6,8126		0,6,4060	yes	missense	EPPK1	NM_031308.1	98	19,368,5586	TT,TC,CC		0.0738,10.4877,3.3986	benign	384/2420	144946271	406,11540	1907	4066	5973	SO:0001583	missense	83481	exon1			ACTAGCCCCTTCT	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1151G>A	8.37:g.144946271C>T	ENSP00000436337:p.Gly384Glu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_031308	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		83	0.038003663003663	70	0.14227642276422764	4	0.011049723756906077	2	0.0034965034965034965	7	0.009234828496042216	C	9.565	1.119374	0.20877	0.104877	7.38E-4	ENSG00000227184	ENST00000525985	T	0.72835	-0.69	4.96	-1.43	0.08884	.	.	.	.	.	T	0.00524	0.0017	N	0.25789	0.76	0.09310	N	0.999997	B	0.12013	0.005	B	0.09377	0.004	T	0.00870	-1.1533	9	0.16896	T	0.51	.	10.042	0.42164	0.0:0.6982:0.0:0.3018	rs58368323	384	E9PPU0	.	E	384	ENSP00000436337:G384E	ENSP00000436337:G384E	G	-	2	0	EPPK1	145018259	0.000000	0.05858	0.663000	0.29738	0.564000	0.35744	-0.181000	0.09740	-0.542000	0.06249	-0.409000	0.06214	GGG	C|0.961;T|0.039	0.039	strong		0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144946271	C	T	144946271	3	4	22	1	0	0	0	0	1	0	0	0	5190	623	22	2	6115	2	EPPK1	8	144946271	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3337	144946271	1417751	4999	10107										
PLEC	5339	hgsc.bcm.edu	37	chr8	144991428	144991428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatggacttgaccacgccGtccgaggaggagatggtgat	14	9	1	3	rs11998271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:144991428G>A	ENST00000322810.4	-	32	13141	c.12972C>T	c.(12970-12972)gaC>gaT	p.D4324D	PLEC_ENST00000345136.3_Silent_p.D4187D|PLEC_ENST00000398774.2_Silent_p.D4155D|PLEC_ENST00000356346.3_Silent_p.D4173D|PLEC_ENST00000527096.1_Silent_p.D4210D|PLEC_ENST00000354589.3_Silent_p.D4187D|PLEC_ENST00000357649.2_Silent_p.D4191D|PLEC_ENST00000436759.2_Silent_p.D4214D|PLEC_ENST00000354958.2_Silent_p.D4165D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4324	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACCACGCCGTCCGAGGAGG	0.622													G|||	419	0.0836661	0.3011	0.0173	5008	,	,		18486	0.001		0.002	False		,,,				2504	0.0061				p.D4324D		Atlas-SNP	.											.	PLEC	1144	.	0			c.C12972T						PASS	.	G	,,,,,,,	1134,3084		148,838,1123	56	63	61		12642,12519,12495,12972,12465,12561,12573,12561	-4.4	0.9	8	dbSNP_120	61	5,8413		0,5,4204	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	148,843,5327	AA,AG,GG		0.0594,26.8848,9.0139	,,,,,,,	4214/4575,4173/4534,4165/4526,4324/4685,4155/4516,4187/4548,4191/4552,4187/4548	144991428	1139,11497	2109	4209	6318	SO:0001819	synonymous_variant	5339	exon32			CACGCCGTCCGAG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12972C>T	8.37:g.144991428G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.957;A|0.043	0.043	strong		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991428	G	A	144991428	2	1	22	1	0	0	0	0	0	0	0	1	12052	1136	40	1		1	PLEC	8	144991428	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45157	144991428	1372594	5000	10108										
PLEC	5339	hgsc.bcm.edu	37	chr8	145004185	145004185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctcttcatgtccacgtgCaactggtgccacagcgtgac	11	13	2	1	rs78012434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145004185C>T	ENST00000322810.4	-	22	3238	c.3069G>A	c.(3067-3069)ttG>ttA	p.L1023L	PLEC_ENST00000345136.3_Silent_p.L886L|PLEC_ENST00000398774.2_Silent_p.L854L|PLEC_ENST00000356346.3_Silent_p.L872L|PLEC_ENST00000527096.1_Silent_p.L909L|PLEC_ENST00000357649.2_Silent_p.L890L|PLEC_ENST00000354589.3_Silent_p.L886L|PLEC_ENST00000354958.2_Silent_p.L864L|PLEC_ENST00000436759.2_Silent_p.L913L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1023	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTCCACGTGCAACTGGTGCC	0.697													C|||	326	0.0650958	0.2284	0.0317	5008	,	,		16413	0.0		0.002	False		,,,				2504	0.0				p.L1023L		Atlas-SNP	.											.	PLEC	1144	.	0			c.G3069A						PASS	.	C	,,,,,,,	823,3569		84,655,1457	26	34	31		2739,2616,2592,3069,2562,2658,2670,2658	-0.4	1	8	dbSNP_132	31	20,8550		0,20,4265	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	84,675,5722	TT,TC,CC		0.2334,18.7386,6.5036	,,,,,,,	913/4575,872/4534,864/4526,1023/4685,854/4516,886/4548,890/4552,886/4548	145004185	843,12119	2196	4285	6481	SO:0001819	synonymous_variant	5339	exon22			CACGTGCAACTGG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3069G>A	8.37:g.145004185C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.963;T|0.037	0.037	strong		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145004185	C	T	145004185	2	4	22	1	0	0	0	0	0	0	0	1	12052	709	25	2		2	PLEC	8	145004185	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12757	145004185	1359837	5001	10109										
PLEC	5339	hgsc.bcm.edu	37	chr8	145006866	145006866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtaggcaccccgggtggcGggggagagctggccctgcaa	19	12	0	1	rs185978075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145006866G>A	ENST00000322810.4	-	15	2332	c.2163C>T	c.(2161-2163)ccC>ccT	p.P721P	PLEC_ENST00000345136.3_Silent_p.P584P|PLEC_ENST00000398774.2_Silent_p.P552P|PLEC_ENST00000356346.3_Silent_p.P570P|PLEC_ENST00000527096.1_Silent_p.P607P|PLEC_ENST00000354589.3_Silent_p.P584P|PLEC_ENST00000357649.2_Silent_p.P588P|PLEC_ENST00000436759.2_Silent_p.P611P|PLEC_ENST00000354958.2_Silent_p.P562P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	721	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGGGTGGCGGGGGAGAGCT	0.716													A|||	61	0.0121805	0.0424	0.0072	5008	,	,		14613	0.0		0.0	False		,,,				2504	0.0				p.P721P		Atlas-SNP	.											.	PLEC	1144	.	0			c.C2163T						PASS	.	A	,,,,,,,	99,3883		3,93,1895	10	14	13		1833,1710,1686,2163,1656,1752,1764,1752	-9.7	0	8		13	2,8238		0,2,4118	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	3,95,6013	AA,AG,GG		0.0243,2.4862,0.8264	,,,,,,,	611/4575,570/4534,562/4526,721/4685,552/4516,584/4548,588/4552,584/4548	145006866	101,12121	1991	4120	6111	SO:0001819	synonymous_variant	5339	exon15			GGTGGCGGGGGAG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2163C>T	8.37:g.145006866G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.994;A|0.006	0.006	strong		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	145006866	G	A	145006866	2	1	22	1	0	0	0	0	0	0	0	1	12052	1103	39	1		1	PLEC	8	145006866	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2681	145006866	1357156	5002	10110										
PLEC	5339	hgsc.bcm.edu	37	chr8	145007409	145007409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgccgtccatccttgagGgtctgcacgtcgttgaagag	15	10	1	3	rs115081018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145007409G>A	ENST00000322810.4	-	13	1954	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PLEC_ENST00000345136.3_Silent_p.T458T|PLEC_ENST00000398774.2_Silent_p.T426T|PLEC_ENST00000356346.3_Silent_p.T444T|PLEC_ENST00000527096.1_Silent_p.T481T|PLEC_ENST00000354589.3_Silent_p.T458T|PLEC_ENST00000357649.2_Silent_p.T462T|PLEC_ENST00000436759.2_Silent_p.T485T|PLEC_ENST00000354958.2_Silent_p.T436T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	595	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CATCCTTGAGGGTCTGCACGT	0.677													G|||	83	0.0165735	0.059	0.0072	5008	,	,		16349	0.0		0.0	False		,,,				2504	0.0				p.T595T		Atlas-SNP	.											.	PLEC	1144	.	0			c.C1785T						PASS	.	G	,,,,,,,	160,3982		4,152,1915	63	72	69		1455,1332,1308,1785,1278,1374,1386,1374	1	1	8	dbSNP_132	69	4,8358		0,4,4177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	4,156,6092	AA,AG,GG		0.0478,3.8629,1.3116	,,,,,,,	485/4575,444/4534,436/4526,595/4685,426/4516,458/4548,462/4552,458/4548	145007409	164,12340	2071	4181	6252	SO:0001819	synonymous_variant	5339	exon13			CTTGAGGGTCTGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1785C>T	8.37:g.145007409G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.988;A|0.012	0.012	strong		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	145007409	G	A	145007409	2	1	22	1	0	0	0	0	0	0	0	1	12052	1219	43	2		2	PLEC	8	145007409	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	543	145007409	1356613	5003	10111										
PARP10	84875	hgsc.bcm.edu	37	chr8	145058539	145058539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacacatggcagctaatgcTgcccagcaggctccgcagaa	10	14	0	1	rs80304851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145058539T>C	ENST00000313028.7	-	6	1613	c.1519A>G	c.(1519-1521)Agc>Ggc	p.S507G	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.S519G|PARP10_ENST00000524918.1_Missense_Mutation_p.S507G	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	507					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTAATGCTGCCCAGCAGG	0.627													T|||	438	0.0874601	0.239	0.0519	5008	,	,		18012	0.0218		0.0398	False		,,,				2504	0.0245				p.S507G		Atlas-SNP	.											.	PARP10	57	.	0			c.A1519G						PASS	.		GLY/SER	923,3481		96,731,1375	26	29	28		1519	4.2	1	8	dbSNP_131	28	374,8226		9,356,3935	yes	missense	PARP10	NM_032789.3	56	105,1087,5310	CC,CT,TT		4.3488,20.9582,9.9739	benign	507/1026	145058539	1297,11707	2202	4300	6502	SO:0001583	missense	84875	exon6			TAATGCTGCCCAG	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1519A>G	8.37:g.145058539T>C	ENSP00000325618:p.Ser507Gly	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	47	24	0.510638	NM_032789	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	181	0.08287545787545787	112	0.22764227642276422	23	0.06353591160220995	15	0.026223776223776224	31	0.040897097625329816	T	17.16	3.319537	0.60524	0.209582	0.043488	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.22336	1.96;1.99;1.99	4.21	4.21	0.49690	.	0.000000	0.56097	D	0.000036	T	0.00012	0.0000	M	0.69823	2.125	0.30588	P	0.761803	B;D	0.54207	0.207;0.965	B;P	0.52343	0.101;0.696	T	0.14559	-1.0468	9	0.66056	D	0.02	.	6.4009	0.21638	0.0:0.1136:0.0:0.8864	.	519;507	E9PNI7;Q53GL7	.;PAR10_HUMAN	G	507;213;507;519	ENSP00000431620:S507G;ENSP00000325618:S507G;ENSP00000434776:S519G	ENSP00000325618:S507G	S	-	1	0	PARP10	145130527	0.967000	0.33354	0.988000	0.46212	0.587000	0.36485	1.982000	0.40638	1.549000	0.49425	0.450000	0.29827	AGC	T|0.903;C|0.097	0.097	strong		0.627	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		C	145058539	T	C	145058539	3	2	22	1	0	0	0	0	1	0	0	0	11455	1580	55	3	1582	3	PARP10	8	145058539	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51130	145058539	1305483	5004	10112										
FBXL6	26233	hgsc.bcm.edu	37	chr8	145579962	145579962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccaggactgctgacccCgacatggcagatcctgaagg	11	15	0	3	rs77494279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145579962C>T	ENST00000331890.5	-	7	1287	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	SLC52A2_ENST00000402965.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.R402Q|SLC52A2_ENST00000329994.2_5'Flank|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	408					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTGCTGACCCCGACATGGCAG	0.642																																					p.R408Q		Atlas-SNP	.											FBXL6,colon,carcinoma,0,1	FBXL6	26	1	0			c.G1223A						scavenged	.						37	38	37					8																	145579962		2199	4296	6495	SO:0001583	missense	26233	exon7			TGACCCCGACATG	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1223G>A	8.37:g.145579962C>T	ENSP00000330098:p.Arg408Gln	Somatic	52	6	0.115385		WXS	Illumina HiSeq	Phase_I	55	7	0.127273	NM_012162	Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	2.320	-0.355930	0.05138	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.23147	5.54;1.92	4.72	2.42	0.29668	.	0.526222	0.16851	N	0.196922	T	0.11410	0.0278	N	0.15975	0.35	0.23559	N	0.99742	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.29610	-1.0006	10	0.16420	T	0.52	-1.2663	4.1831	0.10385	0.0:0.125:0.2883:0.5867	.	408;402	Q8N531;Q8N531-2	FBXL6_HUMAN;.	Q	402;408	ENSP00000403873:R402Q;ENSP00000330098:R408Q	ENSP00000330098:R408Q	R	-	2	0	FBXL6	145550770	0.000000	0.05858	1.000000	0.80357	0.021000	0.10359	-0.300000	0.08243	0.656000	0.30886	-0.481000	0.04817	CGG	C|0.932;T|0.068	0.068	strong		0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		T	145579962	C	T	145579962	3	4	22	1	0	0	0	0	1	0	0	0	5723	652	23	1	408	1	FBXL6	8	145579962	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	521423	145579962	784060	5005	10113										
SLC39A4	55630	hgsc.bcm.edu	37	chr8	145639681	145639681	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacagcgtccccagtgaGtgcacccactgccaggctca	11	16	1	1	rs1871534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145639681G>C	ENST00000301305.3	-	6	1219	c.1114C>G	c.(1114-1116)Ctc>Gtc	p.L372V	SLC39A4_ENST00000276833.5_Missense_Mutation_p.L347V|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	372			L -> P (in AEZ). {ECO:0000269|PubMed:12032886}.|L -> V (in dbSNP:rs1871534).		cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|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;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCCCCAGTGAGTGCACCCACT	0.667													G|||	1268	0.253195	0.9145	0.0735	5008	,	,		15930	0.0		0.007	False		,,,				2504	0.001				p.L372V		Atlas-SNP	.											.	SLC39A4	54	.	0			c.C1114G						PASS	.	G	VAL/LEU,VAL/LEU	3399,989		1341,717,136	55	50	51		1039,1114	4.1	0.2	8	dbSNP_92	51	53,8541		0,53,4244	yes	missense,missense	SLC39A4	NM_017767.2,NM_130849.2	32,32	1341,770,4380	CC,CG,GG		0.6167,22.5387,26.5907	probably-damaging,probably-damaging	347/623,372/648	145639681	3452,9530	2194	4297	6491	SO:0001583	missense	55630	exon6			CAGTGAGTGCACC	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1114C>G	8.37:g.145639681G>C	ENSP00000301305:p.Leu372Val	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	315	136	0.431746	NM_130849	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	467	0.21382783882783882	436	0.8861788617886179	29	0.08011049723756906	0	0.0	2	0.002638522427440633	G	17.34	3.364066	0.61513	0.774613	0.006167	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61510	0.1;0.1	5.03	4.12	0.48240	.	0.164767	0.38720	N	0.001590	T	0.00012	0.0000	M	0.91612	3.225	0.22446	P	0.999095413	D;D	0.89917	0.991;1.0	P;D	0.85130	0.883;0.997	T	0.15492	-1.0435	9	0.87932	D	0	-23.7231	12.8953	0.58095	0.0:0.1654:0.8346:0.0	rs1871534;rs2928379;rs1871534	372;347	Q6P5W5;A6NDY5	S39A4_HUMAN;.	V	347;372	ENSP00000276833:L347V;ENSP00000301305:L372V	ENSP00000276833:L347V	L	-	1	0	SLC39A4	145610489	1.000000	0.71417	0.172000	0.22920	0.396000	0.30629	6.389000	0.73199	1.087000	0.41251	0.573000	0.79308	CTC	G|0.744;C|0.256	0.256	strong		0.667	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			C	145639681	G	C	145639681	3	2	22	1	0	0	0	0	1	0	0	0	14620	1029	36	4	857	4	SLC39A4	8	145639681	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59719	145639681	724341	5006	10114										
GPT	2875	hgsc.bcm.edu	37	chr8	145729727	145729727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accggagccaggcggtgaggCatggactgagggcgaaggtg	20	8	0	2	rs1063739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145729727C>A	ENST00000528431.1	+	2	197	c.40C>A	c.(40-42)Cat>Aat	p.H14N	GPT_ENST00000394955.2_Missense_Mutation_p.H14N			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	14			H -> N (in allele GPT*2; dbSNP:rs1063739). {ECO:0000269|PubMed:9119391, ECO:0000269|Ref.4}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GGCGGTGAGGCATGGACTGAG	0.647													.|||	2167	0.432708	0.1861	0.5086	5008	,	,		20289	0.5377		0.4602	False		,,,				2504	0.5757				p.H14N		Atlas-SNP	.											GPT,NS,haematopoietic_neoplasm,-2,1	GPT	31	1	0			c.C40A						PASS	.	A	ASN/HIS	1020,3384	719.9+/-409.0	133,754,1315	101	98	99	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	40	3.9	0.1	8	dbSNP_86	99	4001,4597	597.1+/-393.7	944,2113,1242	yes	missense	GPT	NM_005309.2	68	1077,2867,2557	AA,AC,CC		46.5341,23.1608,38.6171	benign	14/497	145729727	5021,7981	2202	4299	6501	SO:0001583	missense	2875	exon1			GTGAGGCATGGAC		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.40C>A	8.37:g.145729727C>A	ENSP00000433586:p.His14Asn	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	37	0.578125	NM_005309	B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	CCDS6430.1	907	0.4152930402930403	88	0.17886178861788618	195	0.5386740331491713	276	0.4825174825174825	348	0.45910290237467016	A	0.012	-1.685669	0.00745	0.231608	0.465341	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.73152	-0.72;-0.72	5.05	3.88	0.44766	.	0.232251	0.41097	N	0.000944	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	9	0.06891	T	0.86	-1.6569	5.5333	0.16997	0.7346:0.173:0.0924:0.0	rs1063739;rs56754585;rs1063739	14	P24298	ALAT1_HUMAN	N	14	ENSP00000433586:H14N;ENSP00000378408:H14N	ENSP00000378408:H14N	H	+	1	0	GPT	145700535	0.007000	0.16637	0.065000	0.19835	0.004000	0.04260	0.391000	0.20784	0.782000	0.33613	-0.382000	0.06688	CAT	A|0.384;C|0.616	0.384	strong		0.647	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			A	145729727	C	A	145729727	3	1	22	1	0	0	0	0	1	0	0	0	6737	710	25	4	42	4	GPT	8	145729727	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90046	145729727	634295	5007	10115										
MFSD3	113655	hgsc.bcm.edu	37	chr8	145736101	145736101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggacgctggcacaatcttGagaggtgaggggctggcctt	16	8	1	2	rs34730139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145736101G>A	ENST00000301327.4	+	3	1211	c.951G>A	c.(949-951)ttG>ttA	p.L317L	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	317	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACAATCTTGAGAGGTGAGG	0.652													G|||	212	0.0423323	0.1543	0.0115	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.0				p.L317L		Atlas-SNP	.											.	MFSD3	17	.	0			c.G951A						PASS	.	G		493,3913	222.0+/-238.9	32,429,1742	46	52	50		951	1.8	0.8	8	dbSNP_126	50	4,8592	2.2+/-6.3	0,4,4294	no	coding-synonymous	MFSD3	NM_138431.1		32,433,6036	AA,AG,GG		0.0465,11.1893,3.8225		317/413	145736101	497,12505	2203	4298	6501	SO:0001819	synonymous_variant	113655	exon3			AATCTTGAGAGGT		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.951G>A	8.37:g.145736101G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_138431		Silent	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																			G|0.966;A|0.034	0.034	strong		0.652	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145736101	G	A	145736101	2	1	22	1	0	0	0	0	0	0	0	1	9532	1281	45	2		2	MFSD3	8	145736101	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6374	145736101	627921	5008	10116										
RECQL4	9684	hgsc.bcm.edu	37	chr8	145740622	145740622	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggaacacctcagccggCgtctctgcagacacagatgt	11	14	2	2	rs34948955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145740622C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Silent_p.T465T|LRRC14_ENST00000529022.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCAGCCGGCGTCTCTGCAG	0.622													C|||	8	0.00159744	0.0	0.0014	5008	,	,		20490	0.0		0.007	False		,,,				2504	0.0				p.T465T		Atlas-SNP	.											RECQL4,brain,glioma,0,2	RECQL4	75	2	0			c.G1395A						scavenged	.	C		5,4245		0,5,2120	25	32	29		1395	-10.8	0	8	dbSNP_126	29	70,8422		0,70,4176	no	coding-synonymous	RECQL4	NM_004260.3		0,75,6296	TT,TC,CC		0.8243,0.1176,0.5886		465/1209	145740622	75,12667	2125	4246	6371	SO:0001631	upstream_gene_variant	9401	exon8			AGCCGGCGTCTCT	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145740622C>T	Exception_encountered	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	115	49	0.426087	NM_004260	A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			C|0.997;T|0.003	0.003	strong		0.622	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		T	145740622	C	T	145740622	1	4	22	0	1	0	0	0	0	0	0	0	13202	755	27	1		1	RECQL4	8	145740622	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4521	145740622	623400	5009	10117										
RECQL4	9684	hgsc.bcm.edu	37	chr8	145741702	145741702	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcggggctctcccagggCtcctcgttccatctccgctt	11	16	2	0	rs4244612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145741702C>G	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.E267D|LRRC14_ENST00000529022.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCTCCCAGGGCTCCTCGTTCC	0.672													C|||	2242	0.447684	0.4198	0.464	5008	,	,		16664	0.4821		0.3827	False		,,,				2504	0.5051				p.E267D		Atlas-SNP	.											.	RECQL4	75	.	0			c.G801C						PASS	.	C	ASP/GLU	1614,2322		356,902,710	20	23	22		801	-3	0	8	dbSNP_111	22	3184,5124		620,1944,1590	yes	missense	RECQL4	NM_004260.3	45	976,2846,2300	GG,GC,CC		38.3245,41.0061,39.1865	benign	267/1209	145741702	4798,7446	1968	4154	6122	SO:0001631	upstream_gene_variant	9401	exon5			CCAGGGCTCCTCG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741702C>G	Exception_encountered	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	31	15	0.483871	NM_004260	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			C|0.586;G|0.414	0.414	strong		0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		G	145741702	C	G	145741702	1	3	22	0	1	0	0	0	0	0	0	0	13202	796	28	4		4	RECQL4	8	145741702	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1080	145741702	622320	5010	10118										
RECQL4	9684	hgsc.bcm.edu	37	chr8	145742879	145742879	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacgcttcagagtgcggtaTtcccggtagagcgctgcgtg	15	10	1	2	rs2306386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145742879T>C	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Silent_p.E44E|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGTGCGGTATTCCCGGTAGA	0.786													C|||	2880	0.57508	0.618	0.6282	5008	,	,		8649	0.5238		0.4891	False		,,,				2504	0.6207				p.E44E		Atlas-SNP	.											.	RECQL4	75	.	0			c.A132G						PASS	.	C		2027,1165		681,665,250	5	7	6		132	1	0.6	8	dbSNP_100	6	3861,3639		1088,1685,977	no	coding-synonymous	RECQL4	NM_004260.3		1769,2350,1227	CC,CT,TT		48.52,36.4975,44.9308		44/1209	145742879	5888,4804	1596	3750	5346	SO:0001631	upstream_gene_variant	9401	exon3			GCGGTATTCCCGG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742879T>C	Exception_encountered	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	20	10	0.5	NM_004260	A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			T|0.468;C|0.532	0.532	strong		0.786	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		C	145742879	T	C	145742879	1	2	22	0	1	0	0	0	0	0	0	0	13202	1490	52	2		2	RECQL4	8	145742879	5'Flank	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1177	145742879	621143	5011	10119										
LRRC14	9684	hgsc.bcm.edu	37	chr8	145745268	145745268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgcgagttggtacacacGtggcccttcccgctgctcag	12	15	1	0	rs116791876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145745268G>A	ENST00000292524.1	+	2	305	c.159G>A	c.(157-159)acG>acA	p.T53T	RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Silent_p.T53T|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	53										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTACACACGTGGCCCTTCC	0.627													G|||	31	0.0061901	0.0212	0.0043	5008	,	,		21870	0.0		0.0	False		,,,				2504	0.0				p.T53T		Atlas-SNP	.											.	LRRC14	25	.	0			c.G159A						PASS	.	G		61,4345	58.1+/-94.6	0,61,2142	98	95	96		159	-8.8	0	8	dbSNP_132	96	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	LRRC14	NM_014665.2		0,62,6441	AA,AG,GG		0.0116,1.3845,0.4767		53/494	145745268	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	9684	exon3			ACACACGTGGCCC	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.159G>A	8.37:g.145745268G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	144	85	0.590278	NM_001272036	A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			G|0.994;A|0.006	0.006	strong		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		A	145745268	G	A	145745268	2	1	22	1	0	0	0	0	0	0	0	1	8968	1132	40	1		1	LRRC14	8	145745268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2389	145745268	618754	5012	10120										
LRRC24	441381	hgsc.bcm.edu	37	chr8	145748075	145748075	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtcgttgacgaacagcgcTccctcccccggaggcccccg	11	18	0	1	rs112652028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145748075T>G	ENST00000529415.2	-	5	1443	c.1326A>C	c.(1324-1326)ggA>ggC	p.G442G	LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.G439G			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	442						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGAACAGCGCTCCCTCCCCCG	0.682													G|||	75	0.014976	0.0522	0.0072	5008	,	,		9844	0.0		0.0	False		,,,				2504	0.001				p.G442G		Atlas-SNP	.											.	LRRC24	11	.	0			c.A1326C						PASS	.	G	,	155,4189		3,149,2020	13	14	14		1326,	3.1	1	8	dbSNP_132	14	2,8570		0,2,4284	no	coding-synonymous,utr-3	LRRC14,LRRC24	NM_001024678.3,NM_014665.2	,	3,151,6304	GG,GT,TT		0.0233,3.5681,1.2155	,	442/514,	145748075	157,12759	2172	4286	6458	SO:0001819	synonymous_variant	441381	exon5			CAGCGCTCCCTCC	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1326A>C	8.37:g.145748075T>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	53	21	0.396226	NM_001024678		Silent	SNP	ENST00000529415.2	37	CCDS34969.1																																																																																			T|0.986;G|0.014	0.014	strong		0.682	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145748075	T	G	145748075	2	3	22	1	0	0	0	0	0	0	0	1	8979	1538	54	5		5	LRRC24	8	145748075	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2807	145748075	615947	5013	10121										
MGC70857	414919	hgsc.bcm.edu	37	chr8	145753431	145753431	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagcaggtgatgaaattcTtcattttggaatcatccagg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145753431delT	ENST00000524821.1	-	2	397	c.182delA	c.(181-183)aagfs	p.K61fs	C8orf82_ENST00000313465.5_Frame_Shift_Del_p.K61fs|LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	61										endometrium(1)|urinary_tract(1)	2						GATGAAATTCTTCATTTTGGA	0.582																																					p.K61fs		Pindel,Atlas-Indel	.											C8orf82,bladder,carcinoma,0,1	C8orf82	7	1	0			c.183delG						PASS	.			1,4263		0,1,2131	86	84	85			3.7	1	8		85	0,8254		0,0,4127	no	frameshift	C8orf82	NM_001001795.1		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080			145753431	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	414919	exon2			.		CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.182delA	8.37:g.145753431delT	ENSP00000436621:p.Lys61fs	Somatic	51	.	.		WXS	Illumina HiSeq	Phase_I	57	28	0.491	NM_001001795	Q6GMR2|Q6P2Q7	Frame_Shift_Del	DEL	ENST00000524821.1	37	CCDS34970.1																																																																																			.	.	none		0.582	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		-	145753431	T	-	145753431	7	5	22	1	0	1	0	1	0	0	0	0	9553	1609	56	0	476	0	MGC70857	8	145753431	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	5356	145753431	610591	5014	10122										
MGC70857	414919	hgsc.bcm.edu	37	chr8	145754187	145754187	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaaatactcgcgggtccgCggctccggactctggccctg	13	14	1	1	rs115228909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145754187C>G	ENST00000524821.1	-	1	329	c.114G>C	c.(112-114)ccG>ccC	p.P38P	C8orf82_ENST00000313465.5_Silent_p.P38P|LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	38										endometrium(1)|urinary_tract(1)	2						CGCGGGTCCGCGGCTCCGGAC	0.746													c|||	780	0.155751	0.5635	0.0403	5008	,	,		6049	0.001		0.004	False		,,,				2504	0.002				p.P38P		Atlas-SNP	.											.	C8orf82	7	.	0			c.G114C						PASS	.	G		1591,2607		290,1011,798	5	6	6		114	-0.9	0.1	8	dbSNP_132	6	49,8371		2,45,4163	no	coding-synonymous	C8orf82	NM_001001795.1		292,1056,4961	GG,GC,CC		0.5819,37.899,12.9973		38/217	145754187	1640,10978	2099	4210	6309	SO:0001819	synonymous_variant	414919	exon1			GGTCCGCGGCTCC		CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.114G>C	8.37:g.145754187C>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_001001795	Q6GMR2|Q6P2Q7	Silent	SNP	ENST00000524821.1	37	CCDS34970.1	294	0.1346153846153846	277	0.5630081300813008	15	0.04143646408839779	0	0.0	2	0.002638522427440633	c	7.737	0.700437	0.15106	0.37899	0.005819	ENSG00000213563	ENST00000527462	.	.	.	4.65	-0.859	0.10685	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999987	.	.	.	.	.	.	T	0.45512	-0.9256	3	.	.	.	-15.6032	3.0047	0.06025	0.1607:0.2923:0.4219:0.1251	.	.	.	.	P	87	.	.	R	-	2	0	C8orf82	145724995	0.038000	0.19896	0.066000	0.19879	0.001000	0.01503	-1.219000	0.02973	-0.475000	0.06852	-2.111000	0.00353	CGC	C|0.864;G|0.136	0.136	strong		0.746	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		G	145754187	C	G	145754187	2	3	22	1	0	0	0	0	0	0	0	1	9553	755	27	4		4	MGC70857	8	145754187	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	756	145754187	609835	5015	10123										
ZNF34	80778	hgsc.bcm.edu	37	chr8	145999080	145999080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacattcattacatttataGggtttctctccagtgtgaat	6	8	3	1	rs7845196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:145999080G>A	ENST00000343459.4	-	6	1319	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	ZNF34_ENST00000429371.2_Silent_p.P397P			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TACATTTATAGGGTTTCTCTC	0.413													G|||	388	0.077476	0.2821	0.0216	5008	,	,		20084	0.0		0.0	False		,,,				2504	0.0				p.P418P		Atlas-SNP	.											.	ZNF34	38	.	0			c.C1254T						PASS	.	G		1055,3333	340.7+/-306.4	138,779,1277	49	53	52		1254	1.5	1	8	dbSNP_116	52	7,8589	4.3+/-15.6	0,7,4291	no	coding-synonymous	ZNF34	NM_030580.3		138,786,5568	AA,AG,GG		0.0814,24.0428,8.1793		418/561	145999080	1062,11922	2194	4298	6492	SO:0001819	synonymous_variant	80778	exon6			TTTATAGGGTTTC	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1254C>T	8.37:g.145999080G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	161	85	0.52795	NM_030580	D3DWN1|Q9BSZ0	Silent	SNP	ENST00000343459.4	37	CCDS47945.1																																																																																			G|0.927;A|0.073	0.073	strong		0.413	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		A	145999080	G	A	145999080	2	1	22	1	0	0	0	0	0	0	0	1	17853	987	35	2		2	ZNF34	8	145999080	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	244893	145999080	364942	5016	10124										
RPL8	6132	hgsc.bcm.edu	37	chr8	146015749	146015749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttacttacattcatggcCacaccccgtactcgtggcca	9	14	1	0	rs1060859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:146015749C>T	ENST00000262584.3	-	5	838	c.606G>A	c.(604-606)gtG>gtA	p.V202V	RPL8_ENST00000527914.1_Silent_p.V93V|RPL8_ENST00000394920.2_Silent_p.V202V|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.V202V	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	202					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	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)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CATTCATGGCCACACCCCGTA	0.542													C|||	418	0.0834665	0.3011	0.0245	5008	,	,		17625	0.0		0.002	False		,,,				2504	0.001				p.V202V		Atlas-SNP	.											.	RPL8	29	.	0			c.G606A						PASS	.	C	,	1141,3265	404.9+/-333.3	155,831,1217	124	99	108		606,606	3.3	1	8	dbSNP_86	108	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous,coding-synonymous	RPL8	NM_000973.3,NM_033301.1	,	155,842,5506	TT,TC,CC		0.1279,25.8965,8.8575	,	202/258,202/258	146015749	1152,11854	2203	4300	6503	SO:0001819	synonymous_variant	6132	exon5			CATGGCCACACCC	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.606G>A	8.37:g.146015749C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	138	72	0.521739	NM_033301	A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	CCDS6433.1																																																																																			C|0.908;T|0.092	0.092	strong		0.542	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		T	146015749	C	T	146015749	2	4	22	1	0	0	0	0	0	0	0	1	13602	581	21	2		2	RPL8	8	146015749	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16669	146015749	348273	5017	10125										
ZNF7	7553	hgsc.bcm.edu	37	chr8	146067054	146067054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagcctcttgaaagtcagGgagagagtgcggaagggatg	17	6	3	2	rs1735169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:146067054G>A	ENST00000528372.1	+	5	802	c.562G>A	c.(562-564)Gga>Aga	p.G188R	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G188R|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.G199R|ZNF7_ENST00000544249.1_Missense_Mutation_p.G92R			P17097	ZNF7_HUMAN	zinc finger protein 7	188			G -> R (in dbSNP:rs1735169). {ECO:0000269|Ref.4}.		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)		TGAAAGTCAGGGAGAGAGTGC	0.537													A|||	2660	0.53115	0.6906	0.4294	5008	,	,		20626	0.5833		0.3579	False		,,,				2504	0.5123				p.G188R		Atlas-SNP	.											.	ZNF7	62	.	0			c.G562A						PASS	.	A	ARG/GLY	2939,1467	473.1+/-356.6	985,969,249	63	64	64		562	3.6	0	8	dbSNP_89	64	3291,5309	647.1+/-400.3	594,2103,1603	yes	missense	ZNF7	NM_003416.2	125	1579,3072,1852	AA,AG,GG		38.2674,33.2955,47.901	benign	188/687	146067054	6230,6776	2203	4300	6503	SO:0001583	missense	7553	exon5			AGTCAGGGAGAGA	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.562G>A	8.37:g.146067054G>A	ENSP00000432724:p.Gly188Arg	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	64	28	0.4375	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	1084	0.49633699633699635	340	0.6910569105691057	161	0.4447513812154696	309	0.5402097902097902	274	0.36147757255936674	A	0.293	-0.979022	0.02197	0.667045	0.382674	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T;T	0.05855	7.32;3.48;3.49;3.38;3.48	4.67	3.6	0.41247	.	0.677726	0.12547	N	0.459388	T	0.00012	0.0000	N	0.01535	-0.81	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10109	-1.0644	9	0.35671	T	0.21	-1.9115	5.0258	0.14383	0.6855:0.0:0.3145:0.0	rs1735169;rs4083376;rs52811554;rs59813519;rs1735169	199;188	B4DT08;P17097	.;ZNF7_HUMAN	R	188;188;199;92;188	ENSP00000432641:G188R;ENSP00000320627:G188R;ENSP00000393260:G199R;ENSP00000439424:G92R;ENSP00000432724:G188R	ENSP00000320627:G188R	G	+	1	0	ZNF7	146037858	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.088000	0.11198	0.401000	0.25424	-0.521000	0.04368	GGA	G|0.515;A|0.485	0.485	strong		0.537	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		A	146067054	G	A	146067054	3	1	22	1	0	0	0	0	1	0	0	0	18099	1233	43	2	576	2	ZNF7	8	146067054	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51305	146067054	296968	5018	10126										
ZNF7	7553	hgsc.bcm.edu	37	chr8	146068322	146068322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actagggcccagtggttttaCgaatatgggaatgccctgga	13	8	0	0	rs9004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:146068322C>T	ENST00000528372.1	+	5	2070	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Silent_p.Y610Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Silent_p.Y621Y|ZNF7_ENST00000544249.1_Silent_p.Y514Y			P17097	ZNF7_HUMAN	zinc finger protein 7	610					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)		AGTGGTTTTACGAATATGGGA	0.448													C|||	1544	0.308307	0.2345	0.2262	5008	,	,		18618	0.3204		0.3052	False		,,,				2504	0.4571				p.Y610Y		Atlas-SNP	.											.	ZNF7	62	.	0			c.C1830T						PASS	.	C		1094,3312	395.8+/-329.8	144,806,1253	71	75	73		1830	-4.3	0.3	8	dbSNP_52	73	2751,5849	434.7+/-357.8	404,1943,1953	no	coding-synonymous	ZNF7	NM_003416.2		548,2749,3206	TT,TC,CC		31.9884,24.8298,29.5633		610/687	146068322	3845,9161	2203	4300	6503	SO:0001819	synonymous_variant	7553	exon5			GTTTTACGAATAT	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.1830C>T	8.37:g.146068322C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	61	31	0.508197	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	CCDS6435.1																																																																																			C|0.716;T|0.284	0.284	strong		0.448	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		T	146068322	C	T	146068322	2	4	22	1	0	0	0	0	0	0	0	1	18099	547	19	1		1	ZNF7	8	146068322	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1268	146068322	295700	5019	10127										
ZNF250	58500	hgsc.bcm.edu	37	chr8	146115367	146115367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatcacatttctgtagagAcccctctgagcagggcacag	9	12	4	2	rs2735906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr8:146115367A>G	ENST00000292579.7	-	3	251	c.135T>C	c.(133-135)ggT>ggC	p.G45G	ZNF250_ENST00000342660.6_Silent_p.G40G|ZNF250_ENST00000417550.2_Silent_p.G40G|ZNF250_ENST00000543949.1_Silent_p.G45G	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTCTGTAGAGACCCCTCTGAG	0.552													G|||	4562	0.910942	0.9735	0.8746	5008	,	,		18636	1.0		0.7614	False		,,,				2504	0.9141				p.G45G	NSCLC(16;520 556 24096 40084 43446)	Atlas-SNP	.											.	ZNF250	37	.	0			c.T135C						PASS	.	G	,	4134,272	152.9+/-186.6	1944,246,13	65	54	58		120,135	1.7	1	8	dbSNP_100	58	6469,2131	364.7+/-333.6	2424,1621,255	no	coding-synonymous,coding-synonymous	ZNF250	NM_001109689.3,NM_021061.4	,	4368,1867,268	GG,GA,AA		24.7791,6.1734,18.4761	,	40/556,45/561	146115367	10603,2403	2203	4300	6503	SO:0001819	synonymous_variant	58500	exon3			GTAGAGACCCCTC	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.135T>C	8.37:g.146115367A>G		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	168	78	0.464286	NM_021061	D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	CCDS34972.1																																																																																			A|0.155;G|0.845	0.845	strong		0.552	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		G	146115367	A	G	146115367	2	3	22	1	0	0	0	0	0	0	0	1	17792	262	10	2		2	ZNF250	8	146115367	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47045	146115367	248655	5020	10128										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117637	117637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcgggggatcttgacgaaGcagtcgttcagcgagaggtt	16	8	2	2	rs138098441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117637G>A	ENST00000382500.2	-	1	780	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTTGACGAAGCAGTCGTTCA	0.637													.|||	119	0.023762	0.0847	0.0101	5008	,	,		14103	0.0		0.0	False		,,,				2504	0.0				p.C161C		Atlas-SNP	.											.	FOXD4	75	.	0			c.C483T						PASS	.	G		293,4087		3,287,1900	104	143	130		483	2.2	1	9	dbSNP_134	130	1,8567		0,1,4283	no	coding-synonymous	FOXD4	NM_207305.3		3,288,6183	AA,AG,GG		0.0117,6.6895,2.2706		161/440	117637	294,12654	2190	4284	6474	SO:0001819	synonymous_variant	2298	exon1			GACGAAGCAGTCG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.483C>T	9.37:g.117637G>A		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	228	115	0.504386	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	CCDS34975.1																																																																																			G|0.974;A|0.026	0.026	strong		0.637	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		A	117637	G	A	117637	2	1	22	1	0	0	0	0	0	0	0	1	5999	963	34	2		2	FOXD4	9	117637	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10		117637	141095794	5021	10129										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117877	117877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgaactcggtgccaaaCtctgaggggtcgctcgggcc	14	14	1	2	rs7022056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117877C>T	ENST00000382500.2	-	1	540	c.243G>A	c.(241-243)gaG>gaA	p.E81E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	81					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGGTGCCAAACTCTGAGGGGT	0.711													C|||	1209	0.241414	0.4198	0.2594	5008	,	,		13926	0.0496		0.2296	False		,,,				2504	0.1973				p.E81E		Atlas-SNP	.											.	FOXD4	75	.	0			c.G243A						PASS	.	C		1567,2821		218,1131,845	37	62	53		243	0.3	0	9	dbSNP_116	53	2002,6582		167,1668,2457	no	coding-synonymous	FOXD4	NM_207305.3		385,2799,3302	TT,TC,CC		23.3225,35.711,27.5131		81/440	117877	3569,9403	2194	4292	6486	SO:0001819	synonymous_variant	2298	exon1			GCCAAACTCTGAG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.243G>A	9.37:g.117877C>T		Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	349	170	0.487106	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	CCDS34975.1																																																																																			C|0.500;T|0.500	0.500	weak		0.711	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117877	C	T	117877	2	4	22	1	0	0	0	0	0	0	0	1	5999	564	20	2		2	FOXD4	9	117877	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	240	117877	141095554	5022	10130										
C9orf66	157983	hgsc.bcm.edu	37	chr9	214908	214908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcatgttccgcggctacTctgcggcgcgccaggccccc	14	17	1	0	rs62533313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:214908T>C	ENST00000382387.2	-	1	985	c.489A>G	c.(487-489)agA>agG	p.R163R	DOCK8_ENST00000453981.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	163										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGCGGCTACTCTGCGGCGCG	0.692													T|||	437	0.0872604	0.1233	0.085	5008	,	,		11014	0.004		0.0974	False		,,,				2504	0.1155				p.R163R		Atlas-SNP	.											.	C9orf66	16	.	0			c.A489G						PASS	.	T	,	381,3313		13,355,1479	16	15	15		489,	0.2	0	9	dbSNP_129	15	658,6782		35,588,3097	no	coding-synonymous,utr-5	DOCK8,C9orf66	NM_152569.2,NM_203447.3	,	48,943,4576	CC,CT,TT		8.8441,10.314,9.3318	,	163/296,	214908	1039,10095	1847	3720	5567	SO:0001819	synonymous_variant	157983	exon1			GGCTACTCTGCGG	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.489A>G	9.37:g.214908T>C		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	20	9	0.45	NM_152569	Q96NB0	Silent	SNP	ENST00000382387.2	37	CCDS6439.1																																																																																			T|0.905;C|0.095	0.095	strong		0.692	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	214908	T	C	214908	2	2	22	1	0	0	0	0	0	0	0	1	2490	1548	54	3		3	C9orf66	9	214908	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	97031	214908	140998523	5023	10131										
DOCK8	81704	hgsc.bcm.edu	37	chr9	328144	328144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttctcagtcacctacccGtcctcagacatctacctggt	6	16	5	1	rs35746964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:328144G>A	ENST00000453981.1	+	9	1129	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	DOCK8_ENST00000469391.1_Silent_p.P271P|DOCK8_ENST00000432829.2_Silent_p.P271P			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	339					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACCTACCCGTCCTCAGACA	0.493													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20591	0.0		0.0	False		,,,				2504	0.0				p.P339P		Atlas-SNP	.											DOCK8_ENST00000453981,colon,carcinoma,0,2	DOCK8	401	2	0			c.G1017A						PASS	.	G	,,	41,4365	44.6+/-78.6	0,41,2162	100	82	88		813,813,1017	-8.7	0.6	9	dbSNP_126	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,42,6461	AA,AG,GG		0.0116,0.9305,0.3229	,,	271/2000,271/2032,339/2100	328144	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	81704	exon9			CTACCCGTCCTCA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1017G>A	9.37:g.328144G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	146	80	0.547945	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																			G|0.996;A|0.004	0.004	strong		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	328144	G	A	328144	2	1	22	1	0	0	0	0	0	0	0	1	4693	1132	40	1		1	DOCK8	9	328144	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113236	328144	140885287	5024	10132										
DOCK8	81704	hgsc.bcm.edu	37	chr9	368030	368030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccagaaaccttctctaTgtctacccacagaggctgaa	6	12	2	3	rs10972587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:368030T>C	ENST00000453981.1	+	15	1804	c.1692T>C	c.(1690-1692)taT>taC	p.Y564Y	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Silent_p.Y496Y|DOCK8_ENST00000432829.2_Silent_p.Y496Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	564	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCTCTATGTCTACCCAC	0.373													T|||	652	0.130192	0.4138	0.0663	5008	,	,		21192	0.001		0.0318	False		,,,				2504	0.0266				p.Y564Y		Atlas-SNP	.											.	DOCK8	401	.	0			c.T1692C						PASS	.	T	,,	1584,2822	493.4+/-362.7	300,984,919	89	84	85		1488,1488,1692	-2	1	9	dbSNP_120	85	344,8256	117.9+/-177.5	7,330,3963	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	307,1314,4882	CC,CT,TT		4.0,35.951,14.8239	,,	496/2000,496/2032,564/2100	368030	1928,11078	2203	4300	6503	SO:0001819	synonymous_variant	81704	exon15			TCTCTATGTCTAC	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1692T>C	9.37:g.368030T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																			T|0.862;C|0.138	0.138	strong		0.373	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		C	368030	T	C	368030	2	2	22	1	0	0	0	0	0	0	0	1	4693	1471	51	2		2	DOCK8	9	368030	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39886	368030	140845401	5025	10133										
DOCK8	81704	hgsc.bcm.edu	37	chr9	382646	382646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctcgcggggacacactcCgcagcagacgaggaagtgaa	14	12	0	2	rs116523732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:382646C>T	ENST00000453981.1	+	22	2851	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	DOCK8_ENST00000382331.1_Silent_p.S215S|DOCK8_ENST00000382329.1_Silent_p.S380S|DOCK8_ENST00000469391.1_Silent_p.S845S|DOCK8_ENST00000432829.2_Silent_p.S845S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	913					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGACACACTCCGCAGCAGACG	0.507													C|||	56	0.0111821	0.0386	0.0072	5008	,	,		20060	0.0		0.0	False		,,,				2504	0.0				p.S913S		Atlas-SNP	.											.	DOCK8	401	.	0			c.C2739T						PASS	.	C	,,	139,4267	98.9+/-137.6	2,135,2066	61	53	56		2535,2535,2739	-6.7	0	9	dbSNP_132	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	2,137,6364	TT,TC,CC		0.0233,3.1548,1.0841	,,	845/2000,845/2032,913/2100	382646	141,12865	2203	4300	6503	SO:0001819	synonymous_variant	81704	exon22			ACACTCCGCAGCA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2739C>T	9.37:g.382646C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	118	62	0.525424	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																			C|0.991;T|0.009	0.009	strong		0.507	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	382646	C	T	382646	2	4	22	1	0	0	0	0	0	0	0	1	4693	639	23	1		1	DOCK8	9	382646	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14616	382646	140830785	5026	10134										
KANK1	23189	hgsc.bcm.edu	37	chr9	710966	710966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaacatccagaagaggcGgaagccgtccgtgccatgcc	12	13	0	3	rs7860464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:710966G>A	ENST00000382303.1	+	7	852	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.R67Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	67	Nuclear localization signal 1 (NLS 1).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGAAGAGGCGGAAGCCGTCC	0.478													G|||	854	0.170527	0.5507	0.0648	5008	,	,		20098	0.0		0.0179	False		,,,				2504	0.0644				p.R67Q		Atlas-SNP	.											.	KANK1	231	.	0			c.G200A						PASS	.	G	GLN/ARG,	2182,2224	587.0+/-386.6	551,1080,572	105	89	95		200,	3.3	1	9	dbSNP_116	95	69,8531	39.8+/-96.3	0,69,4231	yes	missense,utr-5	KANK1	NM_015158.2,NM_153186.3	43,	551,1149,4803	AA,AG,GG		0.8023,49.5234,17.3074	probably-damaging,	67/1353,	710966	2251,10755	2203	4300	6503	SO:0001583	missense	23189	exon7			AGAGGCGGAAGCC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.200G>A	9.37:g.710966G>A	ENSP00000371740:p.Arg67Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	307	0.14056776556776557	275	0.5589430894308943	25	0.06906077348066299	0	0.0	7	0.009234828496042216	G	13.01	2.108040	0.37242	0.495234	0.008023	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297	T;T	0.40756	1.02;1.02	6.06	3.28	0.37604	Kank N-terminal motif (1);	0.173929	0.28241	N	0.016071	T	0.00012	0.0000	L	0.34521	1.04	0.09310	P	0.999999999999951	P;P	0.35844	0.524;0.473	B;B	0.29077	0.098;0.066	T	0.45644	-0.9247	9	0.23302	T	0.38	-5.0E-4	11.2907	0.49247	0.1916:0.0:0.8084:0.0	rs7860464;rs60562236	67;67	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	67	ENSP00000371740:R67Q;ENSP00000371734:R67Q	ENSP00000346479:R67Q	R	+	2	0	KANK1	700966	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	1.990000	0.40717	0.470000	0.27294	0.655000	0.94253	CGG	G|0.843;A|0.157	0.157	strong		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	710966	G	A	710966	3	1	22	1	0	0	0	0	1	0	0	0	7976	1116	39	1	206	1	KANK1	9	710966	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	328320	710966	140502465	5027	10135										
KANK1	23189	hgsc.bcm.edu	37	chr9	711396	711396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccacaatcctgccaagcaCcagcttcagaatggatacca	6	14	1	1	rs28374506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:711396C>G	ENST00000382303.1	+	7	1282	c.630C>G	c.(628-630)caC>caG	p.H210Q	KANK1_ENST00000382293.3_Missense_Mutation_p.H52Q|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.H210Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	210			H -> Q (in dbSNP:rs28374506).		negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGCCAAGCACCAGCTTCAGA	0.572													C|||	568	0.113419	0.3404	0.0432	5008	,	,		19957	0.0079		0.0159	False		,,,				2504	0.0654				p.H210Q		Atlas-SNP	.											.	KANK1	231	.	0			c.C630G						PASS	.	C	GLN/HIS,GLN/HIS	1282,3124	437.0+/-344.8	194,894,1115	67	64	65		630,156	0.9	0.8	9	dbSNP_125	65	59,8541	35.9+/-90.5	0,59,4241	yes	missense,missense	KANK1	NM_015158.2,NM_153186.3	24,24	194,953,5356	GG,GC,CC		0.686,29.0967,10.3106	benign,benign	210/1353,52/1195	711396	1341,11665	2203	4300	6503	SO:0001583	missense	23189	exon7			CAAGCACCAGCTT	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.630C>G	9.37:g.711396C>G	ENSP00000371740:p.His210Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	146	73	0.5	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	206	0.09432234432234432	177	0.3597560975609756	18	0.049723756906077346	5	0.008741258741258742	6	0.0079155672823219	C	0.539	-0.854632	0.02630	0.290967	0.00686	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.00816	5.66;5.66;5.66	5.38	0.908	0.19326	.	0.316701	0.27223	N	0.020351	T	0.00012	0.0000	N	0.12471	0.22	0.09310	P	1.0	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.003	T	0.35919	-0.9769	9	0.06891	T	0.86	.	1.0739	0.01628	0.1389:0.2267:0.3055:0.3289	rs28374506;rs60319419	210;210	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	210;210;210;52	ENSP00000371740:H210Q;ENSP00000371734:H210Q;ENSP00000371730:H52Q	ENSP00000346479:H210Q	H	+	3	2	KANK1	701396	0.564000	0.26602	0.797000	0.32132	0.552000	0.35366	-0.212000	0.09319	0.270000	0.21984	-0.137000	0.14449	CAC	C|0.902;G|0.098	0.098	strong		0.572	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		G	711396	C	G	711396	3	3	22	1	0	0	0	0	1	0	0	0	7976	506	18	4	636	4	KANK1	9	711396	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	430	711396	140502035	5028	10136										
KANK1	23189	hgsc.bcm.edu	37	chr9	712066	712066	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagggacacttgttgagatgAgaaattgtggggtcagcgtg	16	4	1	2	rs34680571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:712066A>C	ENST00000382303.1	+	7	1952	c.1300A>C	c.(1300-1302)Aga>Cga	p.R434R	KANK1_ENST00000382293.3_Silent_p.R276R|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.R434R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	434	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGTTGAGATGAGAAATTGTGG	0.512													A|||	413	0.0824681	0.2352	0.0346	5008	,	,		21248	0.0		0.0139	False		,,,				2504	0.0654				p.R434R		Atlas-SNP	.											.	KANK1	231	.	0			c.A1300C						PASS	.	A	,	893,3513	347.2+/-309.4	94,705,1404	113	100	104		1300,826	4.5	0.1	9	dbSNP_126	104	56,8544	34.3+/-88.2	0,56,4244	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	94,761,5648	CC,CA,AA		0.6512,20.2678,7.2966	,	434/1353,276/1195	712066	949,12057	2203	4300	6503	SO:0001819	synonymous_variant	23189	exon7			GAGATGAGAAATT	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1300A>C	9.37:g.712066A>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	128	50	0.390625	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			T|0.000;C|0.069;A|0.931	0.069	strong		0.512	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		C	712066	A	C	712066	2	2	22	1	0	0	0	0	0	0	0	1	7976	296	11	5		5	KANK1	9	712066	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	670	712066	140501365	5029	10137										
DMRT2	10655	hgsc.bcm.edu	37	chr9	1056517	1056517	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacctgccttgatttaacCatgcagtattcagggtctgg	9	12	2	1	rs16928356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:1056517C>G	ENST00000358146.2	+	3	930	c.930C>G	c.(928-930)acC>acG	p.T310T	DMRT2_ENST00000302441.6_Silent_p.T310T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Silent_p.T310T|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	310					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTGATTTAACCATGCAGTATT	0.438													C|||	263	0.052516	0.1876	0.0173	5008	,	,		20652	0.0		0.003	False		,,,				2504	0.0				p.T310T		Atlas-SNP	.											.	DMRT2	70	.	0			c.C930G						PASS	.	C	,,	699,3707	291.5+/-281.6	55,589,1559	85	88	87		,,930	3.7	1	9	dbSNP_123	87	3,8597	1.2+/-3.3	0,3,4297	no	utr-3,utr-3,coding-synonymous	DMRT2	NM_001130865.2,NM_006557.6,NM_181872.4	,,	55,592,5856	GG,GC,CC		0.0349,15.8647,5.3975	,,	,,310/562	1056517	702,12304	2203	4300	6503	SO:0001819	synonymous_variant	10655	exon4			TTTAACCATGCAG	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.930C>G	9.37:g.1056517C>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_181872	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	CCDS6444.1																																																																																			C|0.951;G|0.049	0.049	strong		0.438	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		G	1056517	C	G	1056517	2	3	22	1	0	0	0	0	0	0	0	1	4586	581	21	4		4	DMRT2	9	1056517	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	344451	1056517	140156914	5030	10138										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2029196	2029196	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtctcccatcctatgccGacgatggggtccacagactt	10	13	1	1	rs10964470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2029196G>A	ENST00000382203.1	+	2	383	c.174G>A	c.(172-174)ccG>ccA	p.P58P	SMARCA2_ENST00000349721.2_Silent_p.P58P|SMARCA2_ENST00000382194.1_Silent_p.P58P|SMARCA2_ENST00000357248.2_Silent_p.P58P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	58					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)		ATCCTATGCCGACGATGGGGT	0.527													G|||	245	0.0489217	0.1778	0.0115	5008	,	,		19068	0.0		0.002	False		,,,				2504	0.0				p.P58P		Atlas-SNP	.											.	SMARCA2	313	.	0			c.G174A						PASS	.	G	,	635,3771	271.0+/-269.9	44,547,1612	42	36	38		174,174	-11.2	0	9	dbSNP_120	38	2,8598	1.2+/-3.3	0,2,4298	yes	coding-synonymous,coding-synonymous	SMARCA2	NM_003070.3,NM_139045.2	,	44,549,5910	AA,AG,GG		0.0233,14.4122,4.8977	,	58/1591,58/1573	2029196	637,12369	2203	4300	6503	SO:0001819	synonymous_variant	6595	exon2			TATGCCGACGATG	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.174G>A	9.37:g.2029196G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	111	56	0.504505	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																			G|0.950;A|0.050	0.050	strong		0.527	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2029196	G	A	2029196	2	1	22	1	0	0	0	0	0	0	0	1	14769	1045	37	1		1	SMARCA2	9	2029196	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	972679	2029196	139184235	5031	10139										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				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)		agcagcaacagcagcagcagc	0.642																																					p.Q223Q		Atlas-SNP	.											SMARCA2_ENST00000349721,NS,carcinoma,0,2	SMARCA2	313	2	0			c.G669A						scavenged	.						10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595	exon4			GCAACAGCAGCAG	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.669G>A	9.37:g.2039779G>A		Somatic	66	1	0.0151515		WXS	Illumina HiSeq	Phase_I	98	51	0.520408	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																			G|0.889;A|0.111	0.111	strong		0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039779	G	A	2039779	2	1	22	1	0	0	0	0	0	0	0	1	14769	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10583	2039779	139173652	5032	10140										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2116037	2116037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggccatcttggagcatgaGgaggaaaatgaggtattaga	14	5	1	3	rs6601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2116037G>A	ENST00000382203.1	+	25	3881	c.3672G>A	c.(3670-3672)gaG>gaA	p.E1224E	SMARCA2_ENST00000349721.2_Silent_p.E1224E|SMARCA2_ENST00000357248.2_Silent_p.E1224E|SMARCA2_ENST00000382194.1_Silent_p.E1224E			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1224					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)		TGGAGCATGAGGAGGAAAATG	0.448											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1179	0.235423	0.6838	0.1009	5008	,	,		17552	0.0188		0.1024	False		,,,				2504	0.0849				p.E1224E		Atlas-SNP	.											.	SMARCA2	313	.	0			c.G3672A						PASS	.	A	,	2562,1844	529.7+/-372.7	765,1032,406	30	33	32		3672,3672	-6.9	0.2	9	dbSNP_52	32	924,7676	774.3+/-407.7	53,818,3429	no	coding-synonymous,coding-synonymous	SMARCA2	NM_003070.3,NM_139045.2	,	818,1850,3835	AA,AG,GG		10.7442,41.852,26.803	,	1224/1591,1224/1573	2116037	3486,9520	2203	4300	6503	SO:0001819	synonymous_variant	6595	exon25			GCATGAGGAGGAA	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.3672G>A	9.37:g.2116037G>A		Somatic	85	0	0	601	WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																			A|0.255;G|0.745;T|0.000	0.255	strong		0.448	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2116037	G	A	2116037	2	1	22	1	0	0	0	0	0	0	0	1	14769	991	35	2		2	SMARCA2	9	2116037	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76258	2116037	139097394	5033	10141										
VLDLR	7436	hgsc.bcm.edu	37	chr9	2643175	2643175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataggcaatataacatgtaGtcccgacgagttcacctgct	8	10	1	0	rs34080096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2643175G>C	ENST00000382100.3	+	5	820	c.464G>C	c.(463-465)aGt>aCt	p.S155T	VLDLR_ENST00000382099.2_Missense_Mutation_p.S155T|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	155	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATAACATGTAGTCCCGACGAG	0.473													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		20805	0.0		0.0	False		,,,				2504	0.0				p.S155T		Atlas-SNP	.											.	VLDLR	68	.	0			c.G464C						PASS	.	G	THR/SER,THR/SER	36,4370	40.8+/-73.8	0,36,2167	116	122	120		464,464	4.6	0	9	dbSNP_126	120	0,8600		0,0,4300	yes	missense,missense	VLDLR	NM_001018056.1,NM_003383.3	58,58	0,36,6467	CC,CG,GG		0.0,0.8171,0.2768	benign,benign	155/846,155/874	2643175	36,12970	2203	4300	6503	SO:0001583	missense	7436	exon5			CATGTAGTCCCGA		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.464G>C	9.37:g.2643175G>C	ENSP00000371532:p.Ser155Thr	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	38	22	0.578947	NM_003383	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	13.70	2.315185	0.40996	0.008171	0.0	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.95588	-3.75;-3.75;-3.75	5.5	4.61	0.57282	.	0.091415	0.48286	D	0.000195	D	0.86789	0.6017	L	0.28776	0.89	0.80722	D	1	B;B;B	0.14805	0.003;0.004;0.011	B;B;B	0.29353	0.013;0.022;0.101	D	0.85668	0.1293	10	0.33940	T	0.23	.	14.3118	0.66422	0.0706:0.0:0.9294:0.0	rs34080096	155;155;155	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	T	155;114;155	ENSP00000371532:S155T;ENSP00000371528:S114T;ENSP00000371531:S155T	ENSP00000371528:S114T	S	+	2	0	VLDLR	2633175	1.000000	0.71417	0.028000	0.17463	0.199000	0.23934	5.517000	0.67061	1.558000	0.49541	0.655000	0.94253	AGT	G|0.996;C|0.004	0.004	strong		0.473	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		C	2643175	G	C	2643175	3	2	22	1	0	0	0	0	1	0	0	0	17171	1029	36	4	482	4	VLDLR	9	2643175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	527138	2643175	138570256	5034	10142										
VLDLR	7436	hgsc.bcm.edu	37	chr9	2645719	2645719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagaaactattctgggcCgatctaagccaaaaggctat	9	11	2	1	rs6143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2645719C>T	ENST00000382100.3	+	10	1814	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	VLDLR_ENST00000382099.2_Silent_p.A486A	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	486					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATTCTGGGCCGATCTAAGCC	0.428													T|||	238	0.047524	0.1566	0.0173	5008	,	,		20951	0.0119		0.006	False		,,,				2504	0.001				p.A486A		Atlas-SNP	.											.	VLDLR	68	.	0			c.C1458T						PASS	.	T	,	593,3813	771.5+/-413.8	36,521,1646	156	159	158		1458,1458	2.4	1	9	dbSNP_52	158	12,8588	818.6+/-406.8	0,12,4288	no	coding-synonymous,coding-synonymous	VLDLR	NM_001018056.1,NM_003383.3	,	36,533,5934	TT,TC,CC		0.1395,13.4589,4.6517	,	486/846,486/874	2645719	605,12401	2203	4300	6503	SO:0001819	synonymous_variant	7436	exon10			CTGGGCCGATCTA		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1458C>T	9.37:g.2645719C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	88	51	0.579545	NM_003383	B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	CCDS6446.1																																																																																			C|0.945;T|0.055	0.055	strong		0.428	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		T	2645719	C	T	2645719	2	4	22	1	0	0	0	0	0	0	0	1	17171	639	23	1		1	VLDLR	9	2645719	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2544	2645719	138567712	5035	10143										
VLDLR	7436	hgsc.bcm.edu	37	chr9	2648773	2648773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaacctgaatgatgcccaAgacatcattgtctatcatga	6	10	3	4	rs6148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2648773A>G	ENST00000382100.3	+	14	2423	c.2067A>G	c.(2065-2067)caA>caG	p.Q689Q	VLDLR_ENST00000382099.2_Silent_p.Q689Q	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	689					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGATGCCCAAGACATCATTG	0.443													A|||	370	0.0738818	0.0265	0.0793	5008	,	,		22594	0.002		0.2068	False		,,,				2504	0.0716				p.Q689Q		Atlas-SNP	.											.	VLDLR	68	.	0			c.A2067G						PASS	.	A	,	213,4193	130.2+/-166.9	5,203,1995	122	110	114		2067,2067	1.2	1	9	dbSNP_52	114	1609,6991	299.4+/-304.4	169,1271,2860	no	coding-synonymous,coding-synonymous	VLDLR	NM_001018056.1,NM_003383.3	,	174,1474,4855	GG,GA,AA		18.7093,4.8343,14.0089	,	689/846,689/874	2648773	1822,11184	2203	4300	6503	SO:0001819	synonymous_variant	7436	exon14			TGCCCAAGACATC		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2067A>G	9.37:g.2648773A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	201	95	0.472637	NM_003383	B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	CCDS6446.1																																																																																			A|0.874;G|0.126	0.126	strong		0.443	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		G	2648773	A	G	2648773	2	3	22	1	0	0	0	0	0	0	0	1	17171	69	3	3		3	VLDLR	9	2648773	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3054	2648773	138564658	5036	10144										
KCNV2	169522	hgsc.bcm.edu	37	chr9	2717922	2717922	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgaggaagacgaagacggCgaggaggaggaccagtggaa	18	6	0	2	rs10967705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2717922C>G	ENST00000382082.3	+	1	421	c.183C>G	c.(181-183)ggC>ggG	p.G61G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	61					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACGAAGACGGCGAGGAGGAGG	0.657													G|||	3307	0.660343	0.6346	0.7435	5008	,	,		18238	0.7728		0.5746	False		,,,				2504	0.6084				p.G61G		Atlas-SNP	.											.	KCNV2	72	.	0			c.C183G						PASS	.	G		2797,1609	496.5+/-363.6	880,1037,286	152	115	128		183	-10.7	0	9	dbSNP_120	128	4850,3750	529.9+/-381.7	1382,2086,832	no	coding-synonymous	KCNV2	NM_133497.3		2262,3123,1118	GG,GC,CC		43.6047,36.5184,41.2041		61/546	2717922	7647,5359	2203	4300	6503	SO:0001819	synonymous_variant	169522	exon1			AGACGGCGAGGAG	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.183C>G	9.37:g.2717922C>G		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	177	177	1	NM_133497	Q5T6X0	Silent	SNP	ENST00000382082.3	37	CCDS6447.1																																																																																			C|0.389;G|0.611	0.611	strong		0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		G	2717922	C	G	2717922	2	3	22	1	0	0	0	0	0	0	0	1	8095	755	27	4		4	KCNV2	9	2717922	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69149	2717922	138495509	5037	10145										
KCNV2	169522	hgsc.bcm.edu	37	chr9	2729686	2729686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagatagctgagtgtttgCttggaagcaacccacagctc	11	9	0	3	rs12352254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2729686C>G	ENST00000382082.3	+	2	1835	c.1597C>G	c.(1597-1599)Ctt>Gtt	p.L533V		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	533			L -> V (in dbSNP:rs12352254). {ECO:0000269|PubMed:16909397}.		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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGAGTGTTTGCTTGGAAGCAA	0.458													G|||	714	0.142572	0.3699	0.1369	5008	,	,		20155	0.0218		0.0696	False		,,,				2504	0.0389				p.L533V		Atlas-SNP	.											.	KCNV2	72	.	0			c.C1597G						PASS	.	G	VAL/LEU	1413,2993	686.4+/-404.7	221,971,1011	104	96	98		1597	0.1	0	9	dbSNP_120	98	641,7959	790.4+/-407.6	20,601,3679	yes	missense	KCNV2	NM_133497.3	32	241,1572,4690	GG,GC,CC		7.4535,32.0699,15.7927	benign	533/546	2729686	2054,10952	2203	4300	6503	SO:0001583	missense	169522	exon2			TGTTTGCTTGGAA	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1597C>G	9.37:g.2729686C>G	ENSP00000371514:p.Leu533Val	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	129	67	0.51938	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	283	0.1295787545787546	172	0.34959349593495936	50	0.13812154696132597	9	0.015734265734265736	52	0.06860158311345646	G	2.188	-0.385859	0.04966	0.320699	0.074535	ENSG00000168263	ENST00000382082	D	0.96619	-4.07	5.47	0.0575	0.14323	.	0.977578	0.08281	N	0.969886	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.10941	-1.0608	9	0.24483	T	0.36	.	3.6427	0.08173	0.1241:0.1016:0.3402:0.4342	rs12352254;rs52829818;rs12352254	533	Q8TDN2	KCNV2_HUMAN	V	533	ENSP00000371514:L533V	ENSP00000371514:L533V	L	+	1	0	KCNV2	2719686	0.661000	0.27430	0.017000	0.16124	0.244000	0.25665	0.045000	0.14013	-0.158000	0.11040	-0.824000	0.03097	CTT	C|0.857;G|0.143	0.143	strong		0.458	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		G	2729686	C	G	2729686	3	3	22	1	0	0	0	0	1	0	0	0	8095	797	28	4	1603	4	KCNV2	9	2729686	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11764	2729686	138483745	5038	10146										
KCNV2	169522	hgsc.bcm.edu	37	chr9	2729705	2729705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttggaagcaacccacagcTcaccccaagacaagagaatt	8	13	1	2	rs112673841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2729705T>C	ENST00000382082.3	+	2	1854	c.1616T>C	c.(1615-1617)cTc>cCc	p.L539P		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	539					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AACCCACAGCTCACCCCAAGA	0.433													C|||	68	0.0135783	0.0492	0.0043	5008	,	,		19814	0.0		0.0	False		,,,				2504	0.0				p.L539P		Atlas-SNP	.											.	KCNV2	72	.	0			c.T1616C						PASS	.	C	PRO/LEU	195,4211	808.3+/-415.9	2,191,2010	92	87	89		1616	3.5	0	9	dbSNP_132	89	4,8596	819.1+/-406.8	0,4,4296	yes	missense	KCNV2	NM_133497.3	98	2,195,6306	CC,CT,TT		0.0465,4.4258,1.5301	benign	539/546	2729705	199,12807	2203	4300	6503	SO:0001583	missense	169522	exon2			CACAGCTCACCCC	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1616T>C	9.37:g.2729705T>C	ENSP00000371514:p.Leu539Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	103	52	0.504854	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	175	0.08012820512820513	58	0.11788617886178862	16	0.04419889502762431	36	0.06293706293706294	65	0.08575197889182058	C	0.271	-0.992832	0.02162	0.044258	4.65E-4	ENSG00000168263	ENST00000382082	D	0.96716	-4.1	5.47	3.52	0.40303	.	5.982730	0.00424	N	0.000068	T	0.08980	0.0222	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70938	-0.4736	10	0.23302	T	0.38	.	5.3373	0.15965	0.2188:0.5872:0.1183:0.0758	.	539	Q8TDN2	KCNV2_HUMAN	P	539	ENSP00000371514:L539P	ENSP00000371514:L539P	L	+	2	0	KCNV2	2719705	0.000000	0.05858	0.010000	0.14722	0.081000	0.17604	0.370000	0.20433	1.461000	0.47929	-0.119000	0.15052	CTC	T|0.962;C|0.038	0.038	strong		0.433	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		C	2729705	T	C	2729705	3	2	22	1	0	0	0	0	1	0	0	0	8095	1551	54	3	1622	3	KCNV2	9	2729705	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19	2729705	138483726	5039	10147										
KIAA0020	9933	hgsc.bcm.edu	37	chr9	2811522	2811522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtgttcttgcaggtagcTtaacaaagctggagaaatgg	14	6	1	1	rs60717199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2811522T>A	ENST00000397885.2	-	15	1680	c.1474A>T	c.(1474-1476)Agc>Tgc	p.S492C		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	492	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGCAGGTAGCTTAACAAAGCT	0.473													T|||	109	0.0217652	0.0764	0.0101	5008	,	,		19686	0.0		0.001	False		,,,				2504	0.0				p.S492C		Atlas-SNP	.											.	KIAA0020	56	.	0			c.A1474T						PASS	.	T	CYS/SER	263,4143	148.8+/-183.1	7,249,1947	148	137	140		1474	4.8	0.8	9	dbSNP_129	140	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIAA0020	NM_014878.4	112	7,252,6244	AA,AT,TT		0.0349,5.9691,2.0452	probably-damaging	492/649	2811522	266,12740	2203	4300	6503	SO:0001583	missense	9933	exon15			GGTAGCTTAACAA	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1474A>T	9.37:g.2811522T>A	ENSP00000380982:p.Ser492Cys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	102	42	0.411765	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	35	0.016025641025641024	32	0.06504065040650407	3	0.008287292817679558	0	0.0	0	0.0	T	19.38	3.816861	0.70912	0.059691	3.49E-4	ENSG00000080608	ENST00000397885	T	0.46063	0.88	5.97	4.84	0.62591	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.452768	0.30676	N	0.009106	T	0.07773	0.0195	M	0.63843	1.955	0.29221	N	0.87392	P;P	0.43607	0.544;0.812	P;P	0.54856	0.656;0.762	T	0.18147	-1.0346	10	0.66056	D	0.02	-29.6696	9.6157	0.39690	0.0:0.1502:0.0:0.8498	rs60717199	352;492	B2RDG4;Q15397	.;K0020_HUMAN	C	492	ENSP00000380982:S492C	ENSP00000380982:S492C	S	-	1	0	KIAA0020	2801522	1.000000	0.71417	0.841000	0.33234	0.884000	0.51177	2.579000	0.46059	1.089000	0.41292	0.533000	0.62120	AGC	T|0.980;A|0.020	0.020	strong		0.473	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		A	2811522	T	A	2811522	3	1	22	1	0	0	0	0	1	0	0	0	8152	1609	56	5	488	5	KIAA0020	9	2811522	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	81817	2811522	138401909	5040	10148										
KIAA0020	9933	hgsc.bcm.edu	37	chr9	2837218	2837218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggaattttctcttcttgTtgaatttatttgccggctgg	10	7	2	1	rs112185565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:2837218T>C	ENST00000397885.2	-	3	472	c.266A>G	c.(265-267)aAc>aGc	p.N89S		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	89						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCTCTTCTTGTTGAATTTATT	0.433													T|||	2	0.000399361	0.0015	0.0	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.0				p.N89S		Atlas-SNP	.											.	KIAA0020	56	.	0			c.A266G						PASS	.	T	SER/ASN	6,3742		0,6,1868	226	222	223		266	-3.1	0.8	9	dbSNP_132	223	0,8196		0,0,4098	yes	missense	KIAA0020	NM_014878.4	46	0,6,5966	CC,CT,TT		0.0,0.1601,0.0502	benign	89/649	2837218	6,11938	1874	4098	5972	SO:0001583	missense	9933	exon3			TTCTTGTTGAATT	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.266A>G	9.37:g.2837218T>C	ENSP00000380982:p.Asn89Ser	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	246	110	0.447154	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	2.871	-0.234057	0.05983	0.001601	0.0	ENSG00000080608	ENST00000397885	T	0.11277	2.79	3.73	-3.09	0.05331	.	1.455670	0.03867	N	0.274933	T	0.06554	0.0168	N	0.22421	0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.09084	T	0.74	-4.4541	7.1421	0.25562	0.0:0.4276:0.1305:0.4419	.	89	Q15397	K0020_HUMAN	S	89	ENSP00000380982:N89S	ENSP00000380982:N89S	N	-	2	0	KIAA0020	2827218	0.005000	0.15991	0.824000	0.32777	0.991000	0.79684	-0.410000	0.07151	-0.634000	0.05538	-0.263000	0.10527	AAC	T|0.999;C|0.001	0.001	strong		0.433	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		C	2837218	T	C	2837218	3	2	22	1	0	0	0	0	1	0	0	0	8152	1725	60	2	1744	2	KIAA0020	9	2837218	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25696	2837218	138376213	5041	10149										
GLIS3	169792	hgsc.bcm.edu	37	chr9	4118262	4118262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccatgtggttgaccaggcCtggctgcaggccgccgtgct	14	14	0	1	rs75462592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:4118262C>A	ENST00000324333.10	-	3	944	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C	GLIS3_ENST00000381971.3_Missense_Mutation_p.G406C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	251					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGACCAGGCCTGGCTGCAGG	0.721													C|||	66	0.0131789	0.0469	0.0058	5008	,	,		10239	0.0		0.0	False		,,,				2504	0.0				p.G406C		Atlas-SNP	.											.	GLIS3	152	.	0			c.G1216T						PASS	.	C	CYS/GLY,CYS/GLY	67,3403		1,65,1669	5	6	5		1216,751	5.5	0.4	9	dbSNP_131	5	2,6878		0,2,3438	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	159,159	1,67,5107	AA,AC,CC		0.0291,1.9308,0.6667	possibly-damaging,possibly-damaging	406/931,251/776	4118262	69,10281	1735	3440	5175	SO:0001583	missense	169792	exon4			CCAGGCCTGGCTG	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.751G>T	9.37:g.4118262C>A	ENSP00000325494:p.Gly251Cys	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	24	18	0.75	NM_001042413	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	C	12.40	1.925708	0.34002	0.019308	2.91E-4	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10960	2.84;2.82	5.49	5.49	0.81192	.	0.299519	0.22308	U	0.061772	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	0.999999	D;D	0.57257	0.979;0.964	P;B	0.50378	0.639;0.436	T	0.05115	-1.0905	10	0.38643	T	0.18	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	406;251	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	C	251;406	ENSP00000325494:G251C;ENSP00000371398:G406C	ENSP00000325494:G251C	G	-	1	0	GLIS3	4108262	0.000000	0.05858	0.385000	0.26158	0.649000	0.38597	1.002000	0.29796	2.555000	0.86185	0.655000	0.94253	GGC	C|0.993;A|0.007	0.007	strong		0.721	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		A	4118262	C	A	4118262	3	1	22	1	0	0	0	0	1	0	0	0	6447	681	24	4	1608	4	GLIS3	9	4118262	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1281044	4118262	137095169	5042	10150										
C9orf68	55064	hgsc.bcm.edu	37	chr9	4625546	4625546	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgatgtagataaaggcctCcgtgactcatgtctttcttc	9	9	3	3	rs12338523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:4625546C>T	ENST00000454239.2	-	7	695	c.450G>A	c.(448-450)cgG>cgA	p.R150R	SPATA6L_ENST00000381895.5_Silent_p.R27R|SPATA6L_ENST00000475086.1_Silent_p.R92R|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.R164R			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	150																	ATAAAGGCCTCCGTGACTCAT	0.294													T|||	73	0.0145767	0.0499	0.0101	5008	,	,		15547	0.0		0.0	False		,,,				2504	0.0				p.R92R		Atlas-SNP	.											.	SPATA6L	3	.	0			c.G276A						PASS	.	T		130,3480		1,128,1676	62	63	63		276	-1.8	0	9	dbSNP_120	63	2,8128		0,2,4063	no	coding-synonymous	C9orf68	NM_001039395.3		1,130,5739	TT,TC,CC		0.0246,3.6011,1.1244		92/335	4625546	132,11608	1805	4065	5870	SO:0001819	synonymous_variant	55064	exon5			AGGCCTCCGTGAC	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.450G>A	9.37:g.4625546C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_001039395	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	ENST00000454239.2	37																																																																																				C|0.994;T|0.006	0.006	strong		0.294	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		T	4625546	C	T	4625546	2	4	22	1	0	0	0	0	0	0	0	1	2491	842	30	2		2	C9orf68	9	4625546	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	507284	4625546	136587885	5043	10151										
CDC37L1	55664	hgsc.bcm.edu	37	chr9	4685008	4685008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactgcataattctgagtcCttggatcaggagcatgccaa	10	10	2	1	rs2295967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:4685008C>T	ENST00000381854.3	+	2	466	c.264C>T	c.(262-264)tcC>tcT	p.S88S	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Silent_p.S88S	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	88	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)		ATTCTGAGTCCTTGGATCAGG	0.453													C|||	899	0.179513	0.0333	0.111	5008	,	,		19935	0.376		0.0865	False		,,,				2504	0.319				p.S88S		Atlas-SNP	.											.	CDC37L1	19	.	0			c.C264T						PASS	.	C		216,4190	133.3+/-169.7	6,204,1993	143	137	139		264	5.7	1	9	dbSNP_100	139	784,7816	185.0+/-232.9	35,714,3551	no	coding-synonymous	CDC37L1	NM_017913.2		41,918,5544	TT,TC,CC		9.1163,4.9024,7.6888		88/338	4685008	1000,12006	2203	4300	6503	SO:0001819	synonymous_variant	55664	exon2			TGAGTCCTTGGAT	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.264C>T	9.37:g.4685008C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	137	73	0.532847	NM_017913	B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	CCDS6454.1																																																																																			C|0.893;T|0.107	0.107	strong		0.453	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		T	4685008	C	T	4685008	2	4	22	1	0	0	0	0	0	0	0	1	3069	668	24	2		2	CDC37L1	9	4685008	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59462	4685008	136528423	5044	10152										
JAK2	3717	hgsc.bcm.edu	37	chr9	5050706	5050706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcggcatgattttgtgcaCggatggataaaagtacctgt	13	6	0	1	rs2230722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5050706C>T	ENST00000381652.3	+	6	983	c.489C>T	c.(487-489)caC>caT	p.H163H	JAK2_ENST00000544510.1_Silent_p.H14H|JAK2_ENST00000539801.1_Silent_p.H163H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATTTTGTGCACGGATGGATAA	0.343		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				T|||	1794	0.358227	0.4887	0.3905	5008	,	,		15245	0.2708		0.3002	False		,,,				2504	0.3088				p.H163H		Atlas-SNP	.		Dom	yes		9	9p24	3717	Janus kinase 2		L	.	JAK2	35466	.	0			c.C489T						PASS	.	T		2047,2359	609.9+/-391.4	488,1071,644	110	123	118		489	-0.9	0.9	9	dbSNP_119	118	2589,6011	689.4+/-404.4	366,1857,2077	no	coding-synonymous	JAK2	NM_004972.3		854,2928,2721	TT,TC,CC		30.1047,46.4594,35.6451		163/1133	5050706	4636,8370	2203	4300	6503	SO:0001819	synonymous_variant	3717	exon6	Familial Cancer Database		TGTGCACGGATGG		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.489C>T	9.37:g.5050706C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	74	32	0.432432	NM_004972	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																			C|0.647;T|0.353	0.353	strong		0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5050706	C	T	5050706	2	4	22	1	0	0	0	0	0	0	0	1	7938	535	19	1		1	JAK2	9	5050706	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	365698	5050706	136162725	5045	10153										
INSL6	11172	hgsc.bcm.edu	37	chr9	5185365	5185365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggtttgcgggctttcgaActggtatgggctgtaggctt	16	7	0	0	rs2149554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5185365A>G	ENST00000381641.3	-	1	303	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	80			F -> L (in dbSNP:rs2149554).		fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGGCTTTCGAACTGGTATGGG	0.537													A|||	503	0.100439	0.3646	0.0274	5008	,	,		16500	0.0		0.001	False		,,,				2504	0.001				p.F80L		Atlas-SNP	.											INSL6,NS,carcinoma,+2,1	INSL6	35	1	0			c.T238C						scavenged	.	A	LEU/PHE	1275,3131	436.4+/-344.6	176,923,1104	118	126	123		238	0.5	0	9	dbSNP_96	123	10,8590	6.4+/-24.3	0,10,4290	yes	missense	INSL6	NM_007179.2	22	176,933,5394	GG,GA,AA		0.1163,28.9378,9.8801	benign	80/214	5185365	1285,11721	2203	4300	6503	SO:0001583	missense	11172	exon1			TTTCGAACTGGTA	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.238T>C	9.37:g.5185365A>G	ENSP00000371054:p.Phe80Leu	Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	117	61	0.521368	NM_007179	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	184	0.08424908424908426	174	0.35365853658536583	10	0.027624309392265192	0	0.0	0	0.0	A	5.443	0.266871	0.10294	0.289378	0.001163	ENSG00000120210	ENST00000381641	T	0.40476	1.03	4.39	0.455	0.16649	Insulin-like (3);	3.103370	0.00944	N	0.002876	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.06786	0.001	B	0.10450	0.005	T	0.29427	-1.0012	9	0.11485	T	0.65	-13.6373	3.4873	0.07625	0.5569:0.1995:0.2435:0.0	rs2149554;rs52816055;rs56640305;rs2149554	80	Q9Y581	INSL6_HUMAN	L	80	ENSP00000371054:F80L	ENSP00000371054:F80L	F	-	1	0	INSL6	5175365	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.553000	0.06012	0.067000	0.16545	0.533000	0.62120	TTC	A|0.897;G|0.103	0.103	strong		0.537	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		G	5185365	A	G	5185365	3	3	22	1	0	0	0	0	1	0	0	0	7770	43	2	2	411	2	INSL6	9	5185365	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	134659	5185365	136028066	5046	10154										
INSL4	3641	hgsc.bcm.edu	37	chr9	5231712	5231712	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgctggaatctggacgTcccaaaggtgagagccctgg	15	10	1	1	rs12720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5231712T>A	ENST00000239316.4	+	1	294	c.189T>A	c.(187-189)cgT>cgA	p.R63R		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	63					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AATCTGGACGTCCCAAAGGTG	0.512													A|||	1999	0.399161	0.7337	0.3775	5008	,	,		19844	0.2222		0.2883	False		,,,				2504	0.2587				p.R63R		Atlas-SNP	.											INSL4,bladder,carcinoma,+2,1	INSL4	20	1	0			c.T189A						PASS	.	A		2877,1529	483.3+/-359.7	937,1003,263	46	46	46		189	0.4	0	9	dbSNP_52	46	2350,6250	701.5+/-405.2	305,1740,2255	no	coding-synonymous	INSL4	NM_002195.1		1242,2743,2518	AA,AT,TT		27.3256,34.7027,40.1891		63/140	5231712	5227,7779	2203	4300	6503	SO:0001819	synonymous_variant	3641	exon1			TGGACGTCCCAAA		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.189T>A	9.37:g.5231712T>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	100	40	0.4	NM_002195	A8K678|Q5W127	Silent	SNP	ENST00000239316.4	37	CCDS6459.1																																																																																			T|0.613;A|0.387	0.387	strong		0.512	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		A	5231712	T	A	5231712	2	1	22	1	0	0	0	0	0	0	0	1	7768	1654	58	5		5	INSL4	9	5231712	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46347	5231712	135981719	5047	10155										
INSL4	3641	hgsc.bcm.edu	37	chr9	5233664	5233664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttcacagaaatggtgtcAacctccaacaacaaagatgg	7	10	2	2	rs7030463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5233664A>G	ENST00000239316.4	+	2	312	c.207A>G	c.(205-207)tcA>tcG	p.S69S		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	69					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AAATGGTGTCAACCTCCAACA	0.398													A|||	163	0.0325479	0.121	0.0043	5008	,	,		21594	0.0		0.0	False		,,,				2504	0.0				p.S69S		Atlas-SNP	.											INSL4,right_upper_lobe,carcinoma,+2,1	INSL4	20	1	0			c.A207G						PASS	.	A		394,4012	197.4+/-221.5	15,364,1824	62	58	59		207	1.8	0.3	9	dbSNP_116	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	INSL4	NM_002195.1		15,366,6122	GG,GA,AA		0.0233,8.9424,3.0447		69/140	5233664	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	3641	exon2			GGTGTCAACCTCC		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.207A>G	9.37:g.5233664A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	61	33	0.540984	NM_002195	A8K678|Q5W127	Silent	SNP	ENST00000239316.4	37	CCDS6459.1																																																																																			A|0.967;G|0.033	0.033	strong		0.398	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		G	5233664	A	G	5233664	2	3	22	1	0	0	0	0	0	0	0	1	7768	117	5	2		2	INSL4	9	5233664	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1952	5233664	135979767	5048	10156										
PDCD1LG2	80380	hgsc.bcm.edu	37	chr9	5557708	5557708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattttcatagccacagtgaTagccctaagaaaacaactct	5	11	2	2	rs7854413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5557708T>C	ENST00000397747.3	+	5	970	c.722T>C	c.(721-723)aTa>aCa	p.I241T	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.I151T	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	241			I -> T (in dbSNP:rs7854413).		immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GCCACAGTGATAGCCCTAAGA	0.448													T|||	1402	0.279952	0.6422	0.1326	5008	,	,		22607	0.1151		0.1034	False		,,,				2504	0.2464				p.I241T		Atlas-SNP	.											.	PDCD1LG2	16	.	0			c.T722C						PASS	.	T	THR/ILE	2425,1981	617.9+/-393.1	669,1087,447	195	181	185		722	2.4	0	9	dbSNP_116	185	825,7775	190.0+/-236.6	32,761,3507	yes	missense	PDCD1LG2	NM_025239.3	89	701,1848,3954	CC,CT,TT		9.593,44.9614,24.9885	possibly-damaging	241/274	5557708	3250,9756	2203	4300	6503	SO:0001583	missense	80380	exon5			CAGTGATAGCCCT	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.722T>C	9.37:g.5557708T>C	ENSP00000380855:p.Ile241Thr	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	293	293	1	NM_025239	Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	CCDS6465.1	496	0.2271062271062271	304	0.6178861788617886	49	0.13535911602209943	68	0.11888111888111888	75	0.09894459102902374	T	9.427	1.084533	0.20309	0.550386	0.09593	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.14640	2.49;5.07	4.68	2.37	0.29283	.	0.328448	0.26112	N	0.026269	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	P;B;B	0.43750	0.816;0.301;0.123	B;B;B	0.37239	0.244;0.184;0.02	T	0.25882	-1.0119	9	0.72032	D	0.01	10.8254	5.7861	0.18334	0.0:0.2107:0.0:0.7893	rs7854413;rs52819168;rs58013146;rs7854413	241;151;241	A4GW21;Q9BQ51-2;Q9BQ51	.;.;PD1L2_HUMAN	T	151;241	ENSP00000380853:I151T;ENSP00000380855:I241T	ENSP00000380853:I151T	I	+	2	0	PDCD1LG2	5547708	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.297000	0.19101	0.337000	0.23665	-0.250000	0.11733	ATA	T|0.745;C|0.255	0.255	strong		0.448	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		C	5557708	T	C	5557708	3	2	22	1	0	0	0	0	1	0	0	0	11618	1406	49	2	736	2	PDCD1LG2	9	5557708	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	324044	5557708	135655723	5049	10157										
MLANA	2315	hgsc.bcm.edu	37	chr9	5892525	5892525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttaccccaagaaggggcaCggccactcttacaccacggc	11	15	1	1	rs2233178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:5892525C>T	ENST00000381477.3	+	2	211	c.51C>T	c.(49-51)caC>caT	p.H17H	MLANA_ENST00000381471.1_Silent_p.H17H|snoU13_ENST00000459519.1_RNA|MLANA_ENST00000381476.1_Silent_p.H17H	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	17						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		AGAAGGGGCACGGCCACTCTT	0.532													C|||	797	0.159145	0.3888	0.0648	5008	,	,		20715	0.0298		0.0596	False		,,,				2504	0.1513				p.H17H		Atlas-SNP	.											.	MLANA	16	.	0			c.C51T						PASS	.	C		1393,3013	460.0+/-352.4	202,989,1012	104	84	91		51	-6.5	0	9	dbSNP_98	91	349,8251	117.4+/-177.0	9,331,3960	no	coding-synonymous	MLANA	NM_005511.1		211,1320,4972	TT,TC,CC		4.0581,31.616,13.3938		17/119	5892525	1742,11264	2203	4300	6503	SO:0001819	synonymous_variant	2315	exon2			GGGGCACGGCCAC		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.51C>T	9.37:g.5892525C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	123	57	0.463415	NM_005511	Q6ICU4	Silent	SNP	ENST00000381477.3	37	CCDS6466.1																																																																																			C|0.863;T|0.137	0.137	strong		0.532	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1			T	5892525	C	T	5892525	2	4	22	1	0	0	0	0	0	0	0	1	9611	535	19	1		1	MLANA	9	5892525	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	334817	5892525	135320906	5050	10158										
RANBP6	26953	hgsc.bcm.edu	37	chr9	6015011	6015011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcagctctagcggataaTgtcctgattgctggatgttc	12	9	1	1	rs343500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:6015011T>C	ENST00000259569.5	-	1	607	c.597A>G	c.(595-597)acA>acG	p.T199T	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	199					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T199T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAGCGGATAATGTCCTGATTG	0.428													T|||	756	0.150958	0.3192	0.0245	5008	,	,		23481	0.2183		0.0159	False		,,,				2504	0.0828				p.T199T		Atlas-SNP	.											RANBP6,NS,carcinoma,0,1	RANBP6	127	1	1	Substitution - coding silent(1)	stomach(1)	c.A597G						PASS	.	T		1203,3203	418.9+/-338.5	159,885,1159	93	84	87		597	-7.2	0.9	9	dbSNP_79	87	85,8515	50.2+/-110.2	0,85,4215	no	coding-synonymous	RANBP6	NM_012416.3		159,970,5374	CC,CT,TT		0.9884,27.3037,9.9031		199/1106	6015011	1288,11718	2203	4300	6503	SO:0001819	synonymous_variant	26953	exon1			GGATAATGTCCTG	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.597A>G	9.37:g.6015011T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																			T|0.882;C|0.118	0.118	strong		0.428	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		C	6015011	T	C	6015011	2	2	22	1	0	0	0	0	0	0	0	1	13031	1451	51	2		2	RANBP6	9	6015011	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	122486	6015011	135198420	5051	10159										
GLDC	2731	hgsc.bcm.edu	37	chr9	6587176	6587176	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacctggtcataacctgtGagttcacacaaatccttctc	6	13	3	2	rs74461075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:6587176G>A	ENST00000321612.6	-	15	1965	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	605					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CATAACCTGTGAGTTCACACA	0.418													G|||	71	0.0141773	0.0514	0.0043	5008	,	,		19260	0.0		0.0	False		,,,				2504	0.0				p.L605L		Atlas-SNP	.											.	GLDC	118	.	0			c.C1815T						PASS	.	G		173,4233	112.9+/-151.0	3,167,2033	117	112	114		1815	3.5	1	9	dbSNP_131	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GLDC	NM_000170.2		3,169,6331	AA,AG,GG		0.0233,3.9265,1.3455		605/1021	6587176	175,12831	2203	4300	6503	SO:0001819	synonymous_variant	2731	exon15			ACCTGTGAGTTCA	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1815C>T	9.37:g.6587176G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	135	64	0.474074	NM_000170	Q2M2F8	Silent	SNP	ENST00000321612.6	37	CCDS34987.1																																																																																			G|0.987;A|0.013	0.013	strong		0.418	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		A	6587176	G	A	6587176	2	1	22	1	0	0	0	0	0	0	0	1	6433	1277	45	2		2	GLDC	9	6587176	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	572165	6587176	134626255	5052	10160										
KDM4C	23081	hgsc.bcm.edu	37	chr9	6986589	6986589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagagagtgatgtggagAgccatgggaatggccttgaa	17	4	0	5	rs111451391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:6986589A>C	ENST00000381309.3	+	11	2165	c.1600A>C	c.(1600-1602)Agc>Cgc	p.S534R	KDM4C_ENST00000428870.2_Missense_Mutation_p.S221R|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.S556R|KDM4C_ENST00000543771.1_Missense_Mutation_p.S534R|KDM4C_ENST00000381306.3_Missense_Mutation_p.S534R|KDM4C_ENST00000536108.1_Missense_Mutation_p.S353R	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	534					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGATGTGGAGAGCCATGGGAA	0.498													A|||	63	0.0125799	0.0023	0.0865	5008	,	,		19983	0.0		0.0	False		,,,				2504	0.0				p.S556R		Atlas-SNP	.											KDM4C,NS,carcinoma,-2,1	KDM4C	186	1	0			c.A1666C						scavenged	.	A	ARG/SER,ARG/SER,ARG/SER,ARG/SER	5,4401	9.9+/-24.2	0,5,2198	101	90	94		1600,1600,1666,1600	4.2	1	9	dbSNP_132	94	1,8599		0,1,4299	yes	missense,missense,missense,missense	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	110,110,110,110	0,6,6497	CC,CA,AA		0.0116,0.1135,0.0461	benign,benign,benign,benign	534/1048,534/814,556/836,534/1057	6986589	6,13000	2203	4300	6503	SO:0001583	missense	23081	exon11			GTGGAGAGCCATG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1600A>C	9.37:g.6986589A>C	ENSP00000370710:p.Ser534Arg	Somatic	162	1	0.00617284		WXS	Illumina HiSeq	Phase_I	174	89	0.511494	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	31	0.014194139194139194	1	0.0020325203252032522	30	0.08287292817679558	0	0.0	0	0.0	A	13.15	2.149919	0.37923	0.001135	1.16E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.3	4.17	0.49024	.	2.061340	0.01784	N	0.031882	T	0.04952	0.0133	M	0.66939	2.045	0.29043	N	0.884963	P;P;B;P	0.42203	0.773;0.603;0.112;0.603	B;B;B;B	0.38616	0.277;0.202;0.064;0.246	T	0.14671	-1.0464	10	0.13470	T	0.59	-1.3627	8.4932	0.33112	0.8984:0.0:0.1016:0.0	.	534;556;534;534	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	R	556;534;534;534;353;221	ENSP00000442382:S556R;ENSP00000445427:S534R;ENSP00000370710:S534R;ENSP00000370707:S534R;ENSP00000440656:S353R;ENSP00000405739:S221R	ENSP00000370707:S534R	S	+	1	0	KDM4C	6976589	1.000000	0.71417	0.979000	0.43373	0.845000	0.48019	4.096000	0.57734	1.040000	0.40099	0.533000	0.62120	AGC	A|0.995;C|0.004;T|0.000	0.004	strong		0.498	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		C	6986589	A	C	6986589	3	2	22	1	0	0	0	0	1	0	0	0	8130	304	11	5	1708	5	KDM4C	9	6986589	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	399413	6986589	134226842	5053	10161										
KDM4C	23081	hgsc.bcm.edu	37	chr9	7013874	7013874	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggaaagactaagcccctCataccagagatgtgttttat	10	8	1	2	rs35006356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:7013874C>T	ENST00000381309.3	+	14	2620	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	KDM4C_ENST00000428870.2_Silent_p.L372L|KDM4C_ENST00000442236.2_Silent_p.L430L|KDM4C_ENST00000535193.1_Silent_p.L707L|KDM4C_ENST00000543771.1_Silent_p.L685L|KDM4C_ENST00000381306.3_Silent_p.L685L|KDM4C_ENST00000536108.1_Silent_p.L504L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	685					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTAAGCCCCTCATACCAGAGA	0.388													C|||	36	0.0071885	0.0265	0.0	5008	,	,		19797	0.0		0.001	False		,,,				2504	0.0				p.L707L		Atlas-SNP	.											.	KDM4C	186	.	0			c.C2121T						PASS	.	C	,,,	96,4310	77.8+/-116.1	1,94,2108	118	114	115		2055,2055,2121,2055	1.3	1	9	dbSNP_126	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	,,,	1,94,6408	TT,TC,CC		0.0,2.1788,0.7381	,,,	685/1048,685/814,707/836,685/1057	7013874	96,12910	2203	4300	6503	SO:0001819	synonymous_variant	23081	exon14			GCCCCTCATACCA	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2055C>T	9.37:g.7013874C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	CCDS6471.1																																																																																			C|0.993;T|0.007	0.007	strong		0.388	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	7013874	C	T	7013874	2	4	22	1	0	0	0	0	0	0	0	1	8130	813	29	2		2	KDM4C	9	7013874	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27285	7013874	134199557	5054	10162										
PTPRD	5789	hgsc.bcm.edu	37	chr9	8518143	8518143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctcggggcactggatggTgcttgctctgaggtttgtgt	15	9	1	1	rs7026388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:8518143T>C	ENST00000381196.4	-	18	1791	c.1248A>G	c.(1246-1248)gcA>gcG	p.A416A	PTPRD_ENST00000358503.5_Silent_p.A403A|PTPRD_ENST00000397606.3_Silent_p.A406A|PTPRD_ENST00000355233.5_Silent_p.A416A|PTPRD_ENST00000397611.3_Silent_p.A413A|PTPRD_ENST00000356435.5_Silent_p.A416A|PTPRD_ENST00000397617.3_Silent_p.A406A|PTPRD_ENST00000486161.1_Silent_p.A416A|PTPRD_ENST00000540109.1_Silent_p.A416A|PTPRD_ENST00000537002.1_Silent_p.A413A|PTPRD_ENST00000360074.4_Silent_p.A403A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	416					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTGGATGGTGCTTGCTCTG	0.517										TSP Lung(15;0.13)			C|||	1539	0.307308	0.4418	0.2695	5008	,	,		18246	0.3919		0.164	False		,,,				2504	0.2127				p.A416A		Atlas-SNP	.											.	PTPRD	1348	.	0			c.A1248G						PASS	.	C	,,,,,	1682,2724	653.8+/-399.6	330,1022,851	162	155	157		1239,1218,1248,1248,1248,1230	-10.6	0.4	9	dbSNP_116	157	1345,7255	756.3+/-407.5	115,1115,3070	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	445,2137,3921	CC,CT,TT		15.6395,38.1752,23.2739	,,,,,	413/1503,406/1506,416/1913,416/1506,416/1507,410/1497	8518143	3027,9979	2203	4300	6503	SO:0001819	synonymous_variant	5789	exon10			GGATGGTGCTTGC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1248A>G	9.37:g.8518143T>C		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	250	144	0.576	NM_130392	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																			C|0.268;N|0.000	0.268	strong		0.517	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8518143	T	C	8518143	2	2	22	1	0	0	0	0	0	0	0	1	12799	1683	59	2		2	PTPRD	9	8518143	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1504269	8518143	132695288	5055	10163										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13150531	13150531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctacgattctatctccaggTttcaaggttccatttttgcc	6	11	4	0	rs10756457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:13150531T>C	ENST00000319217.7	-	25	3856	c.3609A>G	c.(3607-3609)aaA>aaG	p.K1203K	MPDZ_ENST00000381015.4_Silent_p.K1203K|MPDZ_ENST00000541718.1_Silent_p.K1203K|MPDZ_ENST00000536827.1_Silent_p.K1203K|MPDZ_ENST00000447879.1_Silent_p.K1203K|MPDZ_ENST00000381022.2_Silent_p.K1203K|MPDZ_ENST00000538841.1_Silent_p.K95K|MPDZ_ENST00000546205.1_Silent_p.K1217K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1203	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TATCTCCAGGTTTCAAGGTTC	0.368													T|||	2392	0.477636	0.6982	0.3473	5008	,	,		13929	0.496		0.33	False		,,,				2504	0.4049				p.K1203K		Atlas-SNP	.											.	MPDZ	324	.	0			c.A3609G						PASS	.	T		2224,1466		675,874,296	164	162	163		3609	0.9	1	9	dbSNP_120	163	2645,5529		442,1761,1884	no	coding-synonymous	MPDZ	NM_003829.3		1117,2635,2180	CC,CT,TT		32.3587,39.729,41.0401		1203/2042	13150531	4869,6995	1845	4087	5932	SO:0001819	synonymous_variant	8777	exon25			TCCAGGTTTCAAG	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3609A>G	9.37:g.13150531T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				T|0.540;C|0.460	0.460	strong		0.368	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13150531	T	C	13150531	2	2	22	1	0	0	0	0	0	0	0	1	9722	1722	60	2		2	MPDZ	9	13150531	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4632388	13150531	128062900	5056	10164										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13223570	13223570	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacgccgcgaccatctcacCtatgggccacactgccctct	8	18	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:13223570C>T	ENST00000319217.7	-	5	780	c.533G>A	c.(532-534)aGa>aAa	p.R178K	MPDZ_ENST00000541718.1_Splice_Site_p.R178K|MPDZ_ENST00000546205.1_Splice_Site_p.R178K|MPDZ_ENST00000536827.1_Splice_Site_p.R178K|MPDZ_ENST00000381015.4_Splice_Site_p.R178K|MPDZ_ENST00000447879.1_Splice_Site_p.R178K|MPDZ_ENST00000381022.2_Splice_Site_p.R178K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	178	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.R178I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCATCTCACCTATGGGCCAC	0.423																																					p.R178K		Atlas-SNP	.											MPDZ_ENST00000541718,NS,carcinoma,0,2	MPDZ	324	2	2	Substitution - Missense(2)	endometrium(2)	c.G533A						scavenged	.						95	94	94					9																	13223570		1865	4107	5972	SO:0001630	splice_region_variant	8777	exon5			TCTCACCTATGGG	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.533+1G>A	9.37:g.13223570C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	228	5	0.0219298	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	14.02	2.410736	0.42817	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	6.08	6.08	0.98989	.	0.131207	0.34853	N	0.003629	T	0.25419	0.0618	L	0.35723	1.085	0.80722	D	1	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.19391	0.025;0.01;0.01	T	0.04855	-1.0922	9	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	178;178;178	B7ZMI4;O75970-3;O75970-2	.;.;.	K	178	ENSP00000320006:R178K;ENSP00000439807:R178K;ENSP00000370410:R178K;ENSP00000444151:R178K;ENSP00000415208:R178K;ENSP00000370403:R178K;ENSP00000446358:R178K	.	R	-	2	0	MPDZ	13213570	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	5.760000	0.68793	2.894000	0.99253	0.591000	0.81541	AGA	.	.	none		0.423	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Missense_Mutation	T	13223570	C	T	13223570	5	4	22	1	0	0	0	0	0	0	1	0	9722	695	24	2	5760	2	MPDZ	9	13223570	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73039	13223570	127989861	5057	10165										
CER1	9350	hgsc.bcm.edu	37	chr9	14722477	14722477	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccctgcagggctggtgGctacaaggtgtggcactgcg	15	12	0	0	rs3747532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14722477G>C	ENST00000380911.3	-	1	238	c.194C>G	c.(193-195)gCc>gGc	p.A65G		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	65			A -> G (in dbSNP:rs3747532). {ECO:0000269|PubMed:15489334}.		anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AGGGCTGGTGGCTACAAGGTG	0.552													C|||	2060	0.411342	0.848	0.3084	5008	,	,		19119	0.127		0.3062	False		,,,				2504	0.2955				p.A65G		Atlas-SNP	.											.	CER1	41	.	0			c.C194G						PASS	.	C	GLY/ALA	3273,1133	404.9+/-333.3	1220,833,150	123	128	126		194	2.1	0	9	dbSNP_107	126	2822,5778	675.8+/-403.2	467,1888,1945	yes	missense	CER1	NM_005454.2	60	1687,2721,2095	CC,CG,GG		32.814,25.7149,46.863	benign	65/268	14722477	6095,6911	2203	4300	6503	SO:0001583	missense	9350	exon1			CTGGTGGCTACAA	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.194C>G	9.37:g.14722477G>C	ENSP00000370297:p.Ala65Gly	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	156	156	1	NM_005454	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	CCDS6476.1	810	0.3708791208791209	409	0.8313008130081301	115	0.31767955801104975	45	0.07867132867132867	241	0.3179419525065963	C	0	-2.649998	0.00109	0.742851	0.32814	ENSG00000147869	ENST00000380911	T	0.17370	2.28	4.89	2.06	0.26882	.	0.330918	0.26489	N	0.024081	T	0.00012	0.0000	N	0.00210	-1.845	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28235	-1.0050	9	0.02654	T	1	-2.1648	4.3035	0.10935	0.0:0.5595:0.1673:0.2732	rs3747532;rs17217056;rs52789555;rs58115487;rs3747532	65	O95813	CER1_HUMAN	G	65	ENSP00000370297:A65G	ENSP00000370297:A65G	A	-	2	0	CER1	14712477	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	0.112000	0.15479	0.375000	0.24679	-0.120000	0.15030	GCC	G|0.572;C|0.428	0.428	strong		0.552	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		C	14722477	G	C	14722477	3	2	22	1	0	0	0	0	1	0	0	0	3265	1203	42	4	617	4	CER1	9	14722477	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1498907	14722477	126490954	5058	10166										
FREM1	158326	hgsc.bcm.edu	37	chr9	14784389	14784389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatctgtcactggagacaGtcaccttgctcttgtgtaca	9	10	4	2	rs41265306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14784389G>A	ENST00000380880.3	-	24	5204	c.4421C>T	c.(4420-4422)aCt>aTt	p.T1474I	FREM1_ENST00000380881.4_Missense_Mutation_p.T1475I|FREM1_ENST00000422223.2_Missense_Mutation_p.T1474I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1474					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACTGGAGACAGTCACCTTGCT	0.428													G|||	406	0.0810703	0.1604	0.085	5008	,	,		17969	0.0625		0.0139	False		,,,				2504	0.0593				p.T1474I		Atlas-SNP	.											.	FREM1	261	.	0			c.C4421T						PASS	.	G	ILE/THR	583,3237		35,513,1362	101	95	97		4421	4.6	0	9	dbSNP_127	97	140,8094		3,134,3980	yes	missense	FREM1	NM_144966.5	89	38,647,5342	AA,AG,GG		1.7003,15.2618,5.998	benign	1474/2180	14784389	723,11331	1910	4117	6027	SO:0001583	missense	158326	exon25			GAGACAGTCACCT	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4421C>T	9.37:g.14784389G>A	ENSP00000370262:p.Thr1474Ile	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	160	73	0.45625	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	184	0.08424908424908426	91	0.18495934959349594	35	0.09668508287292818	45	0.07867132867132867	13	0.017150395778364115	G	10.61	1.399014	0.25291	0.152618	0.017003	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29655	1.56;1.56;1.56	5.53	4.64	0.57946	.	1.037950	0.07563	N	0.917287	T	0.00039	0.0001	N	0.16368	0.405	0.80722	P	0.0	B	0.21688	0.059	B	0.17098	0.017	T	0.18023	-1.0350	9	0.21014	T	0.42	-1.1403	12.0926	0.53736	0.1442:0.0:0.8558:0.0	rs41265306;rs61745898	1474	Q5H8C1	FREM1_HUMAN	I	1475;1474;1474	ENSP00000370263:T1475I;ENSP00000412940:T1474I;ENSP00000370262:T1474I	ENSP00000370262:T1474I	T	-	2	0	FREM1	14774389	0.013000	0.17824	0.005000	0.12908	0.670000	0.39368	1.651000	0.37302	1.469000	0.48083	0.591000	0.81541	ACT	G|0.928;A|0.072	0.072	strong		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14784389	G	A	14784389	3	1	22	1	0	0	0	0	1	0	0	0	6044	1029	36	2	2224	2	FREM1	9	14784389	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61912	14784389	126429042	5059	10167										
FREM1	158326	hgsc.bcm.edu	37	chr9	14801687	14801687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggaaaagctgtgaacaggTgcatgtttctggtgagggtt	15	4	1	2	rs10738380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14801687T>C	ENST00000380880.3	-	20	4440	c.3657A>G	c.(3655-3657)gcA>gcG	p.A1219A	FREM1_ENST00000380881.4_Silent_p.A1220A|FREM1_ENST00000422223.2_Silent_p.A1219A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1219					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTGAACAGGTGCATGTTTCT	0.443													T|||	886	0.176917	0.0325	0.1945	5008	,	,		19888	0.2312		0.2336	False		,,,				2504	0.2454				p.A1219A		Atlas-SNP	.											.	FREM1	261	.	0			c.A3657G						PASS	.	T		241,3679		4,233,1723	130	129	129		3657	0.3	0	9	dbSNP_120	129	1933,6383		235,1463,2460	no	coding-synonymous	FREM1	NM_144966.5		239,1696,4183	CC,CT,TT		23.2443,6.148,17.7672		1219/2180	14801687	2174,10062	1960	4158	6118	SO:0001819	synonymous_variant	158326	exon21			AACAGGTGCATGT	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3657A>G	9.37:g.14801687T>C		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	322	135	0.419255	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			T|0.834;C|0.166	0.166	strong		0.443	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14801687	T	C	14801687	2	2	22	1	0	0	0	0	0	0	0	1	6044	1683	59	2		2	FREM1	9	14801687	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17298	14801687	126411744	5060	10168										
FREM1	158326	hgsc.bcm.edu	37	chr9	14801738	14801738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattctcagagaagtctttGctaaaccccctatcgatgag	7	10	2	2	rs16932300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14801738G>C	ENST00000380880.3	-	20	4389	c.3606C>G	c.(3604-3606)agC>agG	p.S1202R	FREM1_ENST00000380881.4_Missense_Mutation_p.S1203R|FREM1_ENST00000422223.2_Missense_Mutation_p.S1202R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1202			S -> R (in dbSNP:rs16932300).		cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAGTCTTTGCTAAACCCCC	0.517													G|||	820	0.163738	0.3578	0.098	5008	,	,		18063	0.1002		0.0795	False		,,,				2504	0.1002				p.S1202R		Atlas-SNP	.											.	FREM1	261	.	0			c.C3606G						PASS	.	G	ARG/SER	1213,2779		181,851,964	147	145	145		3606	-2.4	0	9	dbSNP_123	145	542,7814		13,516,3649	yes	missense	FREM1	NM_144966.5	110	194,1367,4613	CC,CG,GG		6.4864,30.3858,14.2128	benign	1202/2180	14801738	1755,10593	1996	4178	6174	SO:0001583	missense	158326	exon21			GTCTTTGCTAAAC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3606C>G	9.37:g.14801738G>C	ENSP00000370262:p.Ser1202Arg	Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	311	167	0.536977	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	341	0.15613553113553114	176	0.35772357723577236	38	0.10497237569060773	65	0.11363636363636363	62	0.08179419525065963	G	1.832	-0.469514	0.04445	0.303858	0.064864	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54279	0.58;0.58;0.58	5.51	-2.39	0.06602	.	0.432154	0.30068	N	0.010492	T	0.00012	0.0000	N	0.25144	0.715	0.80722	P	0.0	B	0.09022	0.002	B	0.10450	0.005	T	0.38542	-0.9656	9	0.22706	T	0.39	-4.1075	4.321	0.11016	0.1358:0.304:0.4434:0.1168	rs16932300;rs58105230;rs16932300	1202	Q5H8C1	FREM1_HUMAN	R	1203;1202;1202	ENSP00000370263:S1203R;ENSP00000412940:S1202R;ENSP00000370262:S1202R	ENSP00000370257:S1205R	S	-	3	2	FREM1	14791738	0.104000	0.21937	0.001000	0.08648	0.023000	0.10783	0.018000	0.13422	-0.241000	0.09681	-0.282000	0.10007	AGC	G|0.839;C|0.161	0.161	strong		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14801738	G	C	14801738	3	2	22	1	0	0	0	0	1	0	0	0	6044	1310	46	4	3055	4	FREM1	9	14801738	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	14801738	126411693	5061	10169										
FREM1	158326	hgsc.bcm.edu	37	chr9	14816829	14816829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatcggtgacctccaagaGtaggtcatcctgaagaactt	10	11	1	4	rs7041710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14816829G>C	ENST00000380880.3	-	15	3370	c.2587C>G	c.(2587-2589)Ctc>Gtc	p.L863V	FREM1_ENST00000380881.4_Missense_Mutation_p.L864V|FREM1_ENST00000422223.2_Missense_Mutation_p.L863V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	863			L -> V (in dbSNP:rs7041710). {ECO:0000269|PubMed:15878328}.		cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		acctccaagagtaggtcatcc	0.418													G|||	668	0.133387	0.1687	0.0793	5008	,	,		19534	0.1498		0.0984	False		,,,				2504	0.1431				p.L863V		Atlas-SNP	.											.	FREM1	261	.	0			c.C2587G						PASS	.	G	VAL/LEU	529,3217		48,433,1392	67	70	69		2587	-4.4	0	9	dbSNP_116	69	999,7191		54,891,3150	yes	missense	FREM1	NM_144966.5	32	102,1324,4542	CC,CG,GG		12.1978,14.1217,12.8016	benign	863/2180	14816829	1528,10408	1873	4095	5968	SO:0001583	missense	158326	exon16			CCAAGAGTAGGTC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2587C>G	9.37:g.14816829G>C	ENSP00000370262:p.Leu863Val	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	31	16	0.516129	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	297	0.13598901098901098	86	0.17479674796747968	38	0.10497237569060773	88	0.15384615384615385	85	0.11213720316622691	G	1.582	-0.531394	0.04112	0.141217	0.121978	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26518	1.73;1.73;1.73	5.65	-4.39	0.03611	.	1.807960	0.01944	N	0.042162	T	0.00039	0.0001	N	0.03324	-0.35	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.22312	-1.0220	9	0.28530	T	0.3	4.8189	7.0784	0.25217	0.3052:0.4779:0.217:0.0	rs7041710;rs7041710	863	Q5H8C1	FREM1_HUMAN	V	864;863;863	ENSP00000370263:L864V;ENSP00000412940:L863V;ENSP00000370262:L863V	ENSP00000370257:L866V	L	-	1	0	FREM1	14806829	0.000000	0.05858	0.001000	0.08648	0.370000	0.29829	-0.610000	0.05629	-1.049000	0.03234	-0.175000	0.13238	CTC	G|0.856;C|0.144	0.144	strong		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14816829	G	C	14816829	3	2	22	1	0	0	0	0	1	0	0	0	6044	1029	36	4	4094	4	FREM1	9	14816829	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15091	14816829	126396602	5062	10170										
FREM1	158326	hgsc.bcm.edu	37	chr9	14824088	14824088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttggtatgctgtccaccaTaaataatttcccagcatcca	5	11	0	0	rs7864984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14824088T>C	ENST00000380880.3	-	12	2887	c.2104A>G	c.(2104-2106)Atg>Gtg	p.M702V	FREM1_ENST00000380881.4_Missense_Mutation_p.M703V|FREM1_ENST00000422223.2_Missense_Mutation_p.M702V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	702					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTCCACCATAAATAATTTC	0.393													T|||	185	0.0369409	0.1309	0.0086	5008	,	,		20998	0.0		0.004	False		,,,				2504	0.002				p.M702V		Atlas-SNP	.											.	FREM1	261	.	0			c.A2104G						PASS	.	T	VAL/MET	360,3416		13,334,1541	63	60	61		2104	0.8	0.8	9	dbSNP_116	61	16,8218		0,16,4101	yes	missense	FREM1	NM_144966.5	21	13,350,5642	CC,CT,TT		0.1943,9.5339,3.1307	benign	702/2180	14824088	376,11634	1888	4117	6005	SO:0001583	missense	158326	exon13			CCACCATAAATAA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2104A>G	9.37:g.14824088T>C	ENSP00000370262:p.Met702Val	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	92	44	0.478261	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	55	0.025183150183150184	51	0.10365853658536585	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	T	7.670	0.686751	0.14973	0.095339	0.001943	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.25414	1.8;1.8;1.8	5.83	0.775	0.18527	.	0.246267	0.48767	D	0.000171	T	0.00580	0.0019	M	0.71581	2.175	0.28563	N	0.911019	B	0.22211	0.066	B	0.17098	0.017	T	0.20538	-1.0272	10	0.17832	T	0.49	-9.8199	8.6558	0.34062	0.1862:0.0:0.3315:0.4823	rs7864984;rs57027040;rs7864984	702	Q5H8C1	FREM1_HUMAN	V	703;702;702	ENSP00000370263:M703V;ENSP00000412940:M702V;ENSP00000370262:M702V	ENSP00000370257:M705V	M	-	1	0	FREM1	14814088	0.995000	0.38212	0.842000	0.33263	0.462000	0.32619	0.335000	0.19806	-0.394000	0.07727	-3.035000	0.00072	ATG	T|0.978;C|0.022	0.022	strong		0.393	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14824088	T	C	14824088	3	2	22	1	0	0	0	0	1	0	0	0	6044	1406	49	2	4589	2	FREM1	9	14824088	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7259	14824088	126389343	5063	10171										
FREM1	158326	hgsc.bcm.edu	37	chr9	14824799	14824799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttttcagatacctgtgGctgaaggagaaaaatggagg	13	5	1	4	rs12236053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14824799G>A	ENST00000380880.3	-	11	2856	c.2073C>T	c.(2071-2073)agC>agT	p.S691S	FREM1_ENST00000380881.4_Silent_p.S692S|FREM1_ENST00000422223.2_Silent_p.S691S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	691					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GATACCTGTGGCTGAAGGAGA	0.358													G|||	761	0.151957	0.2156	0.0821	5008	,	,		16773	0.1716		0.0994	False		,,,				2504	0.1493				p.S691S		Atlas-SNP	.											.	FREM1	261	.	0			c.C2073T						PASS	.	G		650,3036		66,518,1259	43	41	42		2073	-1.4	0.4	9	dbSNP_120	42	1012,7160		58,896,3132	no	coding-synonymous	FREM1	NM_144966.5		124,1414,4391	AA,AG,GG		12.3837,17.6343,14.0159		691/2180	14824799	1662,10196	1843	4086	5929	SO:0001819	synonymous_variant	158326	exon12			CCTGTGGCTGAAG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2073C>T	9.37:g.14824799G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	137	75	0.547445	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			G|0.831;A|0.169	0.169	strong		0.358	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14824799	G	A	14824799	2	1	22	1	0	0	0	0	0	0	0	1	6044	1194	42	2		2	FREM1	9	14824799	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	711	14824799	126388632	5064	10172										
FREM1	158326	hgsc.bcm.edu	37	chr9	14857744	14857744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacttcagttttgctctcAgttctagaatgtacagcact	7	10	3	1	rs145369669	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14857744A>C	ENST00000380880.3	-	5	1418	c.635T>G	c.(634-636)cTg>cGg	p.L212R	FREM1_ENST00000380881.4_Missense_Mutation_p.L212R|FREM1_ENST00000422223.2_Missense_Mutation_p.L212R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	212					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTGCTCTCAGTTCTAGAAT	0.428													A|||	18	0.00359425	0.0136	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0				p.L212R		Atlas-SNP	.											.	FREM1	261	.	0			c.T635G						PASS	.	A	ARG/LEU	53,3683		0,53,1815	71	70	70		635	4.9	1	9	dbSNP_134	70	0,8198		0,0,4099	yes	missense	FREM1	NM_144966.5	102	0,53,5914	CC,CA,AA		0.0,1.4186,0.4441	benign	212/2180	14857744	53,11881	1868	4099	5967	SO:0001583	missense	158326	exon6			GCTCTCAGTTCTA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.635T>G	9.37:g.14857744A>C	ENSP00000370262:p.Leu212Arg	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	84	43	0.511905	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	a	6.809	0.518344	0.13005	0.014186	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11385	2.78;2.78;2.78	6.03	4.86	0.63082	.	0.387478	0.27668	N	0.018341	T	0.04634	0.0126	N	0.22421	0.69	0.09310	N	0.999998	P	0.51791	0.948	B	0.39876	0.312	T	0.36237	-0.9756	10	0.25751	T	0.34	-4.1637	10.3897	0.44162	0.7497:0.0:0.0:0.2503	.	212	Q5H8C1	FREM1_HUMAN	R	212	ENSP00000370263:L212R;ENSP00000412940:L212R;ENSP00000370262:L212R	ENSP00000370257:L212R	L	-	2	0	FREM1	14847744	0.590000	0.26815	0.952000	0.39060	0.064000	0.16182	4.254000	0.58798	2.314000	0.78098	0.456000	0.33151	CTG	A|0.997;C|0.003	0.003	strong		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14857744	A	C	14857744	3	2	22	1	0	0	0	0	1	0	0	0	6044	188	7	5	6086	5	FREM1	9	14857744	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	32945	14857744	126355687	5065	10173										
FREM1	158326	hgsc.bcm.edu	37	chr9	14863863	14863863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggacaaccattgtgaacAtacttgacttcgttgggaag	10	7	0	2	rs61740262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:14863863A>G	ENST00000380880.3	-	3	1056	c.273T>C	c.(271-273)taT>taC	p.Y91Y	FREM1_ENST00000380881.4_Silent_p.Y91Y|FREM1_ENST00000422223.2_Silent_p.Y91Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	91					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CATTGTGAACATACTTGACTT	0.393													A|||	159	0.0317492	0.112	0.013	5008	,	,		22501	0.0		0.001	False		,,,				2504	0.001				p.Y91Y		Atlas-SNP	.											.	FREM1	261	.	0			c.T273C						PASS	.	A		313,3603		19,275,1664	115	113	113		273	2.9	0.8	9	dbSNP_129	113	12,8276		0,12,4132	yes	coding-synonymous	FREM1	NM_144966.5		19,287,5796	GG,GA,AA		0.1448,7.9928,2.6631		91/2180	14863863	325,11879	1958	4144	6102	SO:0001819	synonymous_variant	158326	exon4			GTGAACATACTTG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.273T>C	9.37:g.14863863A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	121	65	0.53719	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			A|0.975;G|0.025	0.025	strong		0.393	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14863863	A	G	14863863	2	3	22	1	0	0	0	0	0	0	0	1	6044	224	8	2		2	FREM1	9	14863863	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6119	14863863	126349568	5066	10174										
TTC39B	158219	hgsc.bcm.edu	37	chr9	15191209	15191209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattcccagaaaatccaatAaattctagtagtctgataat	4	8	2	2	rs74818741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:15191209A>G	ENST00000512701.2	-	10	1011	c.975T>C	c.(973-975)ttT>ttC	p.F325F	TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507993.1_Silent_p.F160F|TTC39B_ENST00000355694.2_Silent_p.F259F|TTC39B_ENST00000380850.4_Silent_p.F325F|TTC39B_ENST00000297615.5_Silent_p.F256F|TTC39B_ENST00000507285.1_Silent_p.F160F			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	325										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAAATCCAATAAATTCTAGTA	0.323													A|||	137	0.0273562	0.1014	0.0043	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.0				p.F325F		Atlas-SNP	.											.	TTC39B	83	.	0			c.T975C						PASS	.	A	,,,,	346,4060	176.9+/-206.0	13,320,1870	69	73	72		969,975,768,480,975	1.3	1	9	dbSNP_132	72	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTC39B	NM_001168339.1,NM_001168340.1,NM_001168341.1,NM_001168342.1,NM_152574.2	,,,,	13,321,6168	GG,GA,AA		0.0116,7.8529,2.6684	,,,,	323/681,325/670,256/614,160/518,325/683	15191209	347,12657	2203	4299	6502	SO:0001819	synonymous_variant	158219	exon10			TCCAATAAATTCT	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.975T>C	9.37:g.15191209A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	98	49	0.5	NM_001168340	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	CCDS6477.2																																																																																			A|0.969;G|0.031	0.031	strong		0.323	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		G	15191209	A	G	15191209	2	3	22	1	0	0	0	0	0	0	0	1	16705	359	13	2		2	TTC39B	9	15191209	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	327346	15191209	126022222	5067	10175										
C9orf93	203238	hgsc.bcm.edu	37	chr9	15744683	15744683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagattttgggccaatcatGtgcctctctttttacctgga	8	10	2	1	rs34816651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:15744683G>A	ENST00000380701.3	+	17	2790	c.2462G>A	c.(2461-2463)tGt>tAt	p.C821Y	CCDC171_ENST00000297641.3_Missense_Mutation_p.C821Y	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	821			C -> Y (in dbSNP:rs34816651).														GGCCAATCATGTGCCTCTCTT	0.393													G|||	494	0.0986422	0.1452	0.0418	5008	,	,		19632	0.125		0.006	False		,,,				2504	0.1442				p.C821Y		Atlas-SNP	.											.	.	.	.	0			c.G2462A						PASS	.	G	TYR/CYS	458,3948	216.1+/-234.9	19,420,1764	66	65	65		2462	4.5	1	9	dbSNP_126	65	63,8537	39.8+/-96.3	1,61,4238	yes	missense	C9orf93	NM_173550.2	194	20,481,6002	AA,AG,GG		0.7326,10.3949,4.0058	probably-damaging	821/1327	15744683	521,12485	2203	4300	6503	SO:0001583	missense	203238	exon17			AATCATGTGCCTC	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2462G>A	9.37:g.15744683G>A	ENSP00000370077:p.Cys821Tyr	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	55	31	0.563636	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	159|159	0.07280219780219781|0.07280219780219781	71|71	0.1443089430894309|0.1443089430894309	12|12	0.03314917127071823|0.03314917127071823	72|72	0.1258741258741259|0.1258741258741259	4|4	0.005277044854881266|0.005277044854881266	G|G	14.09|14.09	2.430553|2.430553	0.43122|0.43122	0.103949|0.103949	0.007326|0.007326	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575	T;T|.	0.15017|.	2.46;2.46|.	5.46|5.46	4.51|4.51	0.55191|0.55191	.|.	0.150760|.	0.64402|.	D|.	0.000010|.	T|T	0.00356|0.00356	0.0011|0.0011	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	P|P	0.999999999999942|0.999999999999942	B;B;B;B|.	0.18461|.	0.028;0.028;0.016;0.028|.	B;B;B;B|.	0.17433|.	0.011;0.018;0.003;0.006|.	T|T	0.05733|0.05733	-1.0867|-1.0867	9|4	0.25751|.	T|.	0.34|.	-8.6083|-8.6083	9.9483|9.9483	0.41623|0.41623	0.0785:0.2222:0.6993:0.0|0.0785:0.2222:0.6993:0.0	rs34816651;rs61661263|rs34816651;rs61661263	829;821;88;821|.	B7ZM22;Q6TFL3-3;A6NK04;Q6TFL3|.	.;.;.;CI093_HUMAN|.	Y|M	821;88;821|61	ENSP00000297641:C821Y;ENSP00000370077:C821Y|.	ENSP00000297641:C821Y|.	C|V	+|+	2|1	0|0	C9orf93|C9orf93	15734683|15734683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	1.663000|1.663000	0.37429|0.37429	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	TGT|GTG	G|0.951;A|0.049	0.049	strong		0.393	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		A	15744683	G	A	15744683	3	1	22	1	0	0	0	0	1	0	0	0	2506	1377	48	2	2524	2	C9orf93	9	15744683	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	553474	15744683	125468748	5068	10176										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18775810	18775810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagatgctgaaaaccggcCtctcaacggttgtcaattcc	9	11	2	2	rs934472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:18775810C>A	ENST00000380548.4	+	18	2806	c.2467C>A	c.(2467-2469)Ctc>Atc	p.L823I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	823	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAAAACCGGCCTCTCAACGGT	0.552													A|||	2182	0.435703	0.3661	0.3458	5008	,	,		17341	0.4603		0.4573	False		,,,				2504	0.546				p.L823I		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.C2467A						PASS	.	A	ILE/LEU	1484,2464		304,876,794	57	63	61		2467	1.6	0.2	9	dbSNP_86	61	4032,4286		980,2072,1107	yes	missense	ADAMTSL1	NM_001040272.5	5	1284,2948,1901	AA,AC,CC		48.4732,37.5887,44.9698	benign	823/1763	18775810	5516,6750	1974	4159	6133	SO:0001583	missense	92949	exon18			ACCGGCCTCTCAA	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2467C>A	9.37:g.18775810C>A	ENSP00000369921:p.Leu823Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	115	61	0.530435	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	949	0.43452380952380953	203	0.41260162601626016	124	0.3425414364640884	269	0.47027972027972026	353	0.4656992084432718	A	0.303	-0.972880	0.02215	0.375887	0.484732	ENSG00000178031	ENST00000380548	T	0.62788	-0.0	5.81	1.61	0.23674	.	0.695701	0.08080	U	1.000000	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.40664	-0.9551	9	0.33940	T	0.23	.	7.6219	0.28189	0.2166:0.4528:0.3306:0.0	rs934472;rs56660150;rs934472	823	Q8N6G6	ATL1_HUMAN	I	823	ENSP00000369921:L823I	ENSP00000369921:L823I	L	+	1	0	ADAMTSL1	18765810	0.000000	0.05858	0.207000	0.23584	0.001000	0.01503	-0.163000	0.09997	-0.183000	0.10585	-1.217000	0.01609	CTC	C|0.566;A|0.434	0.434	strong		0.552	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18775810	C	A	18775810	3	1	22	1	0	0	0	0	1	0	0	0	274	681	24	4	2541	4	ADAMTSL1	9	18775810	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3031127	18775810	122437621	5069	10177										
HAUS6	54801	hgsc.bcm.edu	37	chr9	19058425	19058425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgaccaacttcttccggGagagtttcgtgtaatatgcc	10	9	1	3	rs11515236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:19058425G>A	ENST00000380502.3	-	16	2807	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	HAUS6_ENST00000380496.1_Silent_p.L644L	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	780					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCTTCCGGGAGAGTTTCGT	0.358													A|||	1605	0.320487	0.6074	0.1729	5008	,	,		18434	0.1776		0.2734	False		,,,				2504	0.2331				p.L780L		Atlas-SNP	.											.	HAUS6	66	.	0			c.C2340T						PASS	.						31	43	39					9																	19058425		2159	4288	6447	SO:0001819	synonymous_variant	54801	exon16			TTCCGGGAGAGTT	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2340C>T	9.37:g.19058425G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	125	123	0.984	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			G|0.250;A|0.750	0.750	weak		0.358	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		A	19058425	G	A	19058425	2	1	22	1	0	0	0	0	0	0	0	1	6970	1161	41	2		2	HAUS6	9	19058425	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	282615	19058425	122155006	5070	10178										
HAUS6	54801	hgsc.bcm.edu	37	chr9	19087154	19087154	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtacctgcttaactgataaTctgcaagaaaacatacaaaa	5	9	1	2	rs7875404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:19087154T>C	ENST00000380502.3	-	6	1052	c.585A>G	c.(583-585)caA>caG	p.Q195Q	HAUS6_ENST00000380496.1_Splice_Site_p.Q59Q|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	195					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAACTGATAATCTGCAAGAAA	0.338													T|||	668	0.133387	0.2769	0.0634	5008	,	,		19522	0.0308		0.1282	False		,,,				2504	0.1002				p.Q195Q		Atlas-SNP	.											.	HAUS6	66	.	0			c.A585G						PASS	.	T		1233,3171	424.7+/-340.5	180,873,1149	129	127	128		585	1.2	0.5	9	dbSNP_116	128	970,7630	211.1+/-251.8	48,874,3378	yes	coding-synonymous-near-splice	HAUS6	NM_017645.3		228,1747,4527	CC,CT,TT		11.2791,27.9973,16.9409		195/956	19087154	2203,10801	2202	4300	6502	SO:0001630	splice_region_variant	54801	exon6			TGATAATCTGCAA	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.585-1A>G	9.37:g.19087154T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	135	59	0.437037	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			T|0.849;C|0.151	0.151	strong		0.338	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Silent	C	19087154	T	C	19087154	5	2	22	1	0	0	0	0	0	0	1	0	6970	1449	50	2	2330	2	HAUS6	9	19087154	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28729	19087154	122126277	5071	10179										
ACER2	340485	hgsc.bcm.edu	37	chr9	19450598	19450598	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcccctatgtgtccctcctGtgtgccaacaagaaatcatc	7	14	1	1	rs7855739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:19450598G>C	ENST00000340967.2	+	6	818	c.792G>C	c.(790-792)ctG>ctC	p.L264L	RP11-363E7.4_ENST00000563205.1_RNA	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	264					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TGTCCCTCCTGTGTGCCAACA	0.517													G|||	375	0.0748802	0.2579	0.0216	5008	,	,		19358	0.003		0.0	False		,,,				2504	0.0164				p.L264L		Atlas-SNP	.											.	ACER2	24	.	0			c.G792C						PASS	.	G		1024,3382	378.7+/-323.0	131,762,1310	145	131	136		792	-0.3	0.9	9	dbSNP_116	136	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	ACER2	NM_001010887.2		131,770,5602	CC,CG,GG		0.093,23.241,7.9348		264/276	19450598	1032,11974	2203	4300	6503	SO:0001819	synonymous_variant	340485	exon6			CCTCCTGTGTGCC	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"Alkaline ceramidase"	23675	protein-coding gene	gene with protein product		613492	"N-acylsphingosine amidohydrolase 3-like"	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.792G>C	9.37:g.19450598G>C		Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	330	328	0.993939	NM_001010887	A2A3R8|Q569G5|Q5VZR7|Q71RD2	Silent	SNP	ENST00000340967.2	37	CCDS34992.1																																																																																			G|0.933;C|0.067	0.067	strong		0.517	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		C	19450598	G	C	19450598	2	2	22	1	0	0	0	0	0	0	0	1	139	1364	48	4		4	ACER2	9	19450598	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	363444	19450598	121762833	5072	10180										
KIAA1797	54914	hgsc.bcm.edu	37	chr9	20820346	20820346	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtataggacaaattctacgAataatacaactacttggaac	6	7	1	0	rs147147351		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:20820346A>T	ENST00000380249.1	+	15	1948	c.1584A>T	c.(1582-1584)cgA>cgT	p.R528R	FOCAD_ENST00000338382.6_Silent_p.R528R|FOCAD_ENST00000605086.1_5'UTR	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	528						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAATTCTACGAATAATACAAC	0.378													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17668	0.0		0.0	False		,,,				2504	0.0				p.R528R		Atlas-SNP	.											KIAA1797,rectum,carcinoma,+1,1	.	.	1	0			c.A1584T						PASS	.	A		3,4403	6.2+/-15.9	0,3,2200	101	96	98		1584	1.8	1	9	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	KIAA1797	NM_017794.3		0,3,6500	TT,TA,AA		0.0,0.0681,0.0231		528/1802	20820346	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54914	exon15			TCTACGAATAATA	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1584A>T	9.37:g.20820346A>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	123	55	0.447154	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																			A|1.000;T|0.000	0.000	strong		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		T	20820346	A	T	20820346	2	4	22	1	0	0	0	0	0	0	0	1	8258	233	9	5		5	KIAA1797	9	20820346	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1369748	20820346	120393085	5073	10181										
KIAA1797	54914	hgsc.bcm.edu	37	chr9	20978439	20978439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgggtgacaccaccactgAtccacagtctgagtgtatgt	11	10	1	3	rs149031092		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:20978439A>C	ENST00000380249.1	+	39	4727	c.4363A>C	c.(4363-4365)Atc>Ctc	p.I1455L	FOCAD_ENST00000605086.1_Missense_Mutation_p.I891L|FOCAD_ENST00000338382.6_Missense_Mutation_p.I1455L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1455						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACCACCACTGATCCACAGTCT	0.458													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19302	0.0		0.0	False		,,,				2504	0.0				p.I1455L		Atlas-SNP	.											.	.	.	.	0			c.A4363C						PASS	.	A	LEU/ILE	3,4403	6.2+/-15.9	0,3,2200	77	71	73		4363	-1	0.1	9	dbSNP_134	73	0,8600		0,0,4300	no	missense	KIAA1797	NM_017794.3	5	0,3,6500	CC,CA,AA		0.0,0.0681,0.0231	benign	1455/1802	20978439	3,13003	2203	4300	6503	SO:0001583	missense	54914	exon39			CCACTGATCCACA	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4363A>C	9.37:g.20978439A>C	ENSP00000369599:p.Ile1455Leu	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	152	80	0.526316	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.27	1.888125	0.33348	6.81E-4	0.0	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.21543	2.0;2.0	6.06	-0.993	0.10228	.	0.598323	0.18257	N	0.146776	T	0.15435	0.0372	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16897	-1.0387	10	0.39692	T	0.17	-0.8041	5.9075	0.19008	0.399:0.252:0.349:0.0	.	1455	Q5VW36	K1797_HUMAN	L	1455	ENSP00000369599:I1455L;ENSP00000344307:I1455L	ENSP00000344307:I1455L	I	+	1	0	KIAA1797	20968439	0.409000	0.25368	0.067000	0.19924	0.828000	0.46876	0.494000	0.22467	-0.159000	0.11021	0.533000	0.62120	ATC	A|1.000;C|0.000	0.000	strong		0.458	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		C	20978439	A	C	20978439	3	2	22	1	0	0	0	0	1	0	0	0	8258	333	12	5	4505	5	KIAA1797	9	20978439	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	158093	20978439	120234992	5074	10182										
IFNA4	3441	hgsc.bcm.edu	37	chr9	21187146	21187146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcaggggagtctcttccaCcccaacctcctgtatcacac	6	17	3	0	rs201186279		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21187146C>T	ENST00000421715.1	-	1	452	c.385G>A	c.(385-387)Gtg>Atg	p.V129M		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V129M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTCTCTTCCACCCCAACCTCC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.0				p.V129M	NSCLC(154;890 1986 23660 27800 51138)	Atlas-SNP	.											IFNA4,NS,carcinoma,0,1	IFNA4	34	1	1	Substitution - Missense(1)	endometrium(1)	c.G385A						scavenged	.						35	38	37					9																	21187146		2182	4253	6435	SO:0001583	missense	3441	exon1			CTTCCACCCCAAC		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.385G>A	9.37:g.21187146C>T	ENSP00000412897:p.Val129Met	Somatic	513	2	0.00389864		WXS	Illumina HiSeq	Phase_I	736	68	0.0923913	NM_021068	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	4.271	0.049496	0.08243	.	.	ENSG00000236637	ENST00000421715	T	0.03441	3.93	2.96	-5.93	0.02254	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.507550	0.03550	N	0.225260	T	0.05593	0.0147	M	0.73319	2.225	0.09310	N	1	B	0.18741	0.03	B	0.28305	0.088	T	0.38351	-0.9665	10	0.52906	T	0.07	.	1.8132	0.03095	0.1267:0.2025:0.3717:0.2991	.	129	P05014	IFNA4_HUMAN	M	129	ENSP00000412897:V129M	ENSP00000412897:V129M	V	-	1	0	IFNA4	21177146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.851000	0.01669	-1.988000	0.00980	-1.417000	0.01113	GTG	.	.	weak		0.458	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		T	21187146	C	T	21187146	3	4	22	1	0	0	0	0	1	0	0	0	7539	507	18	2	188	2	IFNA4	9	21187146	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	208707	21187146	120026285	5075	10183										
IFNA7	3444	hgsc.bcm.edu	37	chr9	21201703	21201703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgtatttcttctccatTagataaagagtgattctttg	9	6	3	3	rs76644201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21201703T>C	ENST00000239347.3	-	1	501	c.462A>G	c.(460-462)ctA>ctG	p.L154L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCCATTAGATAAAGAG	0.433																																					p.L154L		Atlas-SNP	.											.	IFNA7	24	.	0			c.A462G						PASS	.	T		252,4154	136.1+/-172.1	7,238,1958	245	252	250		462	-1	0	9	dbSNP_131	250	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	IFNA7	NM_021057.2		7,245,6251	CC,CT,TT		0.0814,5.7195,1.9914		154/190	21201703	259,12747	2203	4300	6503	SO:0001819	synonymous_variant	3444	exon1			CTCCATTAGATAA		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.462A>G	9.37:g.21201703T>C		Somatic	378	0	0		WXS	Illumina HiSeq	Phase_I	368	177	0.480978	NM_021057	Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	CCDS34995.1																																																																																			T|0.976;C|0.024	0.024	strong		0.433	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		C	21201703	T	C	21201703	2	2	22	1	0	0	0	0	0	0	0	1	7542	1741	61	2		2	IFNA7	9	21201703	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14557	21201703	120011728	5076	10184										
IFNA10	3446	hgsc.bcm.edu	37	chr9	21206724	21206724	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttccaccccaacctcctGtatcacacatgcttccaggt	4	18	2	0	rs145785282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21206724G>A	ENST00000357374.2	-	1	418	c.373C>T	c.(373-375)Cag>Tag	p.Q125*		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	125					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CCAACCTCCTGTATCACACAT	0.463													g|||	48	0.00958466	0.0325	0.0043	5008	,	,		19993	0.0		0.002	False		,,,				2504	0.0				p.Q125X		Atlas-SNP	.											.	IFNA10	29	.	0			c.C373T						PASS	.	G	stop/GLN	104,4300		2,100,2100	69	76	73		373	0.4	0	9	dbSNP_134	73	4,8556		0,4,4276	no	stop-gained	IFNA10	NM_002171.1		2,104,6376	AA,AG,GG		0.0467,2.3615,0.8331		125/190	21206724	108,12856	2202	4280	6482	SO:0001587	stop_gained	3446	exon1			CCTCCTGTATCAC		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.373C>T	9.37:g.21206724G>A	ENSP00000369566:p.Gln125*	Somatic	599	0	0		WXS	Illumina HiSeq	Phase_I	702	210	0.299145	NM_002171	Q5VV13	Nonsense_Mutation	SNP	ENST00000357374.2	37	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	12.34	1.908152	0.33721	0.023615	4.67E-4	ENSG00000186803	ENST00000357374	.	.	.	3.75	0.383	0.16239	.	0.485956	0.22193	N	0.063355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.857	0.29489	0.0:0.3253:0.508:0.1667	.	.	.	.	X	125	.	ENSP00000369566:Q125X	Q	-	1	0	IFNA10	21196724	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.002000	0.13061	0.171000	0.19730	-0.667000	0.03836	CAG	G|0.996;A|0.004	0.004	strong		0.463	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		A	21206724	G	A	21206724	4	1	22	1	0	0	0	0	0	1	0	0	7532	1386	48	2	200	2	IFNA10	9	21206724	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5021	21206724	120006707	5077	10185										
IFNA10	3446	hgsc.bcm.edu	37	chr9	21206916	21206916	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaaactcctcctgggggaTtcggaaatcatgtctgtcct					rs28368145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21206916T>A	ENST00000357374.2	-	1	226	c.181A>T	c.(181-183)Atc>Ttc	p.I61F		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	61					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TCCTGGGGGATTCGGAAATCA	0.512													a|||	200	0.0399361	0.1021	0.0231	5008	,	,		19409	0.0		0.0427	False		,,,				2504	0.0061				p.I61F		Atlas-SNP	.											.	IFNA10	29	.	0			c.A181T						PASS	.	A	PHE/ILE	44,4342		9,26,2158	112	119	116		181	2.5	0	9	dbSNP_125	116	39,8555		4,31,4262	no	missense	IFNA10	NM_002171.1	21	13,57,6420	AA,AT,TT		0.4538,1.0032,0.6394	benign	61/190	21206916	83,12897	2193	4297	6490	SO:0001583	missense	3446	exon1			GGGGGATTCGGAA		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.181A>T	9.37:g.21206916T>A	ENSP00000369566:p.Ile61Phe	Somatic	342	1	0.00292398		WXS	Illumina HiSeq	Phase_I	330	329	0.99697	NM_002171	Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	CCDS6499.1	55	0.025183150183150184	27	0.054878048780487805	6	0.016574585635359115	0	0.0	22	0.029023746701846966	-	0.057	-1.233059	0.01505	0.010032	0.004538	ENSG00000186803	ENST00000357374	T	0.02837	4.14	3.65	2.49	0.30216	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.056184	0.64402	N	0.000001	T	0.00109	0.0003	N	0.00048	-2.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.02654	T	1	.	3.9452	0.09346	0.7108:0.0:0.106:0.1831	rs28368145	61	P01566	IFN10_HUMAN	F	61	ENSP00000369566:I61F	ENSP00000369566:I61F	I	-	1	0	IFNA10	21196916	0.255000	0.24002	0.001000	0.08648	0.043000	0.13939	0.546000	0.23284	0.019000	0.15079	-0.476000	0.04901	ATC	T|0.962;A|0.038	0.038	strong		0.512	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		A	21206916	T	A	21206916	3	1	22	1	0	0	0	0	1	0	0	0	7532	1493	52	5	392	5	IFNA10	9	21206916	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	192	21206916	120006515	5078	10186	212	2								
IFNA10	3446	hgsc.bcm.edu	37	chr9	21206919	21206919	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactcctcctgggggattcGgaaatcatgtctgtccttca					rs28368144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21206919G>C	ENST00000357374.2	-	1	223	c.178C>G	c.(178-180)Cga>Gga	p.R60G		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	60					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R60*(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TGGGGGATTCGGAAATCATGT	0.522													c|||	200	0.0399361	0.1021	0.0231	5008	,	,		19534	0.0		0.0427	False		,,,				2504	0.0061				p.R60G		Atlas-SNP	.											IFNA10,NS,carcinoma,0,1	IFNA10	29	1	1	Substitution - Nonsense(1)	prostate(1)	c.C178G						PASS	.	C	GLY/ARG	61,4325		9,43,2141	112	119	116		178	-2.3	0	9	dbSNP_125	116	61,8533		4,53,4240	no	missense	IFNA10	NM_002171.1	125	13,96,6381	CC,CG,GG		0.7098,1.3908,0.9399	benign	60/190	21206919	122,12858	2193	4297	6490	SO:0001583	missense	3446	exon1			GGATTCGGAAATC		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.178C>G	9.37:g.21206919G>C	ENSP00000369566:p.Arg60Gly	Somatic	340	1	0.00294118		WXS	Illumina HiSeq	Phase_I	326	324	0.993865	NM_002171	Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	CCDS6499.1	55	0.025183150183150184	27	0.054878048780487805	6	0.016574585635359115	0	0.0	22	0.029023746701846966	-	0.009	-1.832426	0.00579	0.013908	0.007098	ENSG00000186803	ENST00000357374	T	0.03272	3.99	3.65	-2.28	0.06826	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.940550	0.02074	N	0.051796	T	0.00210	0.0006	N	0.00599	-1.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.02654	T	1	.	4.9576	0.14050	0.0:0.2273:0.3:0.4727	rs28368144	60	P01566	IFN10_HUMAN	G	60	ENSP00000369566:R60G	ENSP00000369566:R60G	R	-	1	2	IFNA10	21196919	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.481000	0.02323	-0.404000	0.07610	-1.257000	0.01473	CGA	G|0.959;C|0.041	0.041	strong		0.522	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		C	21206919	G	C	21206919	3	2	22	1	0	0	0	0	1	0	0	0	7532	1124	39	4	395	4	IFNA10	9	21206919	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	21206919	120006512	5079	10187	212	2								
IFNA16	3449	hgsc.bcm.edu	37	chr9	21216908	21216908	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtcctcattcatcagggCaatctcttccaccccaacct					rs386733486|rs28368163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21216908C>G	ENST00000380216.1	-	1	402	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	133					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCATCAGGGCAATCTCTTCC	0.468													G|||	130	0.0259585	0.0499	0.0216	5008	,	,		19223	0.0		0.0427	False		,,,				2504	0.0061				p.A133P		Atlas-SNP	.											.	IFNA16	27	.	0			c.G397C						PASS	.	G	PRO/ALA	68,4336		4,60,2138	197	191	193		397	-1.9	0	9	dbSNP_125	193	140,8460		7,126,4167	no	missense	IFNA16	NM_002173.2	27	11,186,6305	GG,GC,CC		1.6279,1.5441,1.5995	benign	133/190	21216908	208,12796	2202	4300	6502	SO:0001583	missense	3449	exon1			TCAGGGCAATCTC		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.397G>C	9.37:g.21216908C>G	ENSP00000369564:p.Ala133Pro	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	300	127	0.423333	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	40	0.018315018315018316	11	0.022357723577235773	6	0.016574585635359115	0	0.0	23	0.030343007915567283	-	0.007	-1.990886	0.00439	0.015441	0.016279	ENSG00000147885	ENST00000380216	T	0.03301	3.98	2.62	-1.9	0.07665	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.297473	0.27749	N	0.018011	T	0.00271	0.0008	N	0.00179	-1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	10	0.02654	T	1	.	7.5429	0.27748	0.196:0.6125:0.1914:0.0	rs28368163	133	P05015	IFN16_HUMAN	P	133	ENSP00000369564:A133P	ENSP00000369564:A133P	A	-	1	0	IFNA16	21206908	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.642000	0.00406	-0.769000	0.04620	-1.122000	0.02009	GCC	C|0.973;G|0.027	0.027	strong		0.468	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		G	21216908	C	G	21216908	3	3	22	1	0	0	0	0	1	0	0	0	7535	710	25	4	176	4	IFNA16	9	21216908	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9989	21216908	119996523	5080	10188	213	2								
IFNA16	3449	hgsc.bcm.edu	37	chr9	21216910	21216910	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcctcattcatcagggcaAtctcttccaccccaacctcc					rs386733486|rs28368162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21216910A>G	ENST00000380216.1	-	1	400	c.395T>C	c.(394-396)aTt>aCt	p.I132T		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	132					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CATCAGGGCAATCTCTTCCAC	0.473													G|||	130	0.0259585	0.0499	0.0216	5008	,	,		19296	0.0		0.0427	False		,,,				2504	0.0061				p.I132T		Atlas-SNP	.											.	IFNA16	27	.	0			c.T395C						PASS	.	G	THR/ILE	99,4307		4,91,2108	196	191	193		395	-0.9	0	9	dbSNP_125	193	184,8416		7,170,4123	no	missense	IFNA16	NM_002173.2	89	11,261,6231	GG,GA,AA		2.1395,2.2469,2.1759	benign	132/190	21216910	283,12723	2203	4300	6503	SO:0001583	missense	3449	exon1			AGGGCAATCTCTT		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.395T>C	9.37:g.21216910A>G	ENSP00000369564:p.Ile132Thr	Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	296	123	0.415541	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	41	0.018772893772893772	12	0.024390243902439025	6	0.016574585635359115	0	0.0	23	0.030343007915567283	-	0.004	-2.304892	0.00240	0.022469	0.021395	ENSG00000147885	ENST00000380216	T	0.03004	4.08	2.62	-0.859	0.10685	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.666310	0.02964	N	0.143572	T	0.00241	0.0007	N	0.00016	-2.855	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49560	-0.8927	10	0.02654	T	1	.	4.1205	0.10103	0.3484:0.1729:0.4786:0.0	rs28368162	132	P05015	IFN16_HUMAN	T	132	ENSP00000369564:I132T	ENSP00000369564:I132T	I	-	2	0	IFNA16	21206910	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.374000	0.07484	-0.779000	0.04560	-1.160000	0.01791	ATT	A|0.974;G|0.026	0.026	strong		0.473	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		G	21216910	A	G	21216910	3	3	22	1	0	0	0	0	1	0	0	0	7535	101	4	2	178	2	IFNA16	9	21216910	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2	21216910	119996521	5081	10189	213	2								
IFNA16	3449	hgsc.bcm.edu	37	chr9	21216934	21216934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccaccccaacctcctgtGtcacacaggcttctaggtca	6	17	3	0	rs28368161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21216934G>A	ENST00000380216.1	-	1	376	c.371C>T	c.(370-372)aCa>aTa	p.T124I		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	124					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AACCTCCTGTGTCACACAGGC	0.458													A|||	130	0.0259585	0.0499	0.0216	5008	,	,		20091	0.0		0.0427	False		,,,				2504	0.0061				p.T124I		Atlas-SNP	.											.	IFNA16	27	.	0			c.C371T						PASS	.	A	ILE/THR	205,4201		5,195,2003	169	168	168		371	-5.2	0	9	dbSNP_125	168	394,8206		7,380,3913	no	missense	IFNA16	NM_002173.2	89	12,575,5916	AA,AG,GG		4.5814,4.6527,4.6056	benign	124/190	21216934	599,12407	2203	4300	6503	SO:0001583	missense	3449	exon1			TCCTGTGTCACAC		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.371C>T	9.37:g.21216934G>A	ENSP00000369564:p.Thr124Ile	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	344	150	0.436047	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	58	0.026556776556776556	22	0.044715447154471545	4	0.011049723756906077	0	0.0	32	0.04221635883905013	-	0.015	-1.568968	0.00895	0.046527	0.045814	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	-5.24	0.02789	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.137070	0.01644	N	0.024229	T	0.00328	0.0010	N	0.05414	-0.055	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43376	-0.9395	10	0.15952	T	0.53	.	2.5466	0.04738	0.2352:0.4841:0.121:0.1597	rs28368161	124	P05015	IFN16_HUMAN	I	124	ENSP00000369564:T124I	ENSP00000369564:T124I	T	-	2	0	IFNA16	21206934	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.047000	0.00630	-1.390000	0.02087	-1.451000	0.01035	ACA	G|0.966;A|0.034	0.034	strong		0.458	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		A	21216934	G	A	21216934	3	1	22	1	0	0	0	0	1	0	0	0	7535	1377	48	2	202	2	IFNA16	9	21216934	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24	21216934	119996497	5082	10190										
IFNA16	3449	hgsc.bcm.edu	37	chr9	21217022	21217022	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcccaagcagcagatgaatCctttgtgctgaagagattga	10	8	0	5	rs28368160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21217022C>G	ENST00000380216.1	-	1	288	c.283G>C	c.(283-285)Gat>Cat	p.D95H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	95					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCAGATGAATCCTTTGTGCTG	0.493													C|||	130	0.0259585	0.0499	0.0216	5008	,	,		20197	0.0		0.0427	False		,,,				2504	0.0061				p.D95H		Atlas-SNP	.											.	IFNA16	27	.	0			c.G283C						PASS	.	C	HIS/ASP	208,4198		5,198,2000	129	125	126		283	-0.6	0	9	dbSNP_125	126	397,8203		7,383,3910	no	missense	IFNA16	NM_002173.2	81	12,581,5910	GG,GC,CC		4.6163,4.7208,4.6517	possibly-damaging	95/190	21217022	605,12401	2203	4300	6503	SO:0001583	missense	3449	exon1			ATGAATCCTTTGT		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.283G>C	9.37:g.21217022C>G	ENSP00000369564:p.Asp95His	Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	346	175	0.50578	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	72	0.03296703296703297	27	0.054878048780487805	7	0.019337016574585635	0	0.0	38	0.05013192612137203	-	5.406	0.260048	0.10239	0.047208	0.046163	ENSG00000147885	ENST00000380216	T	0.03441	3.93	2.62	-0.618	0.11576	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.345320	0.01358	N	0.012141	T	0.01421	0.0046	L	0.47016	1.485	0.09310	N	1	P	0.47962	0.903	P	0.61275	0.886	T	0.17379	-1.0371	10	0.33940	T	0.23	.	3.9698	0.09447	0.0:0.3538:0.3876:0.2585	rs28368160	95	P05015	IFN16_HUMAN	H	95	ENSP00000369564:D95H	ENSP00000369564:D95H	D	-	1	0	IFNA16	21207022	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.174000	0.03105	-0.295000	0.08960	0.184000	0.17185	GAT	C|0.957;G|0.043	0.043	strong		0.493	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		G	21217022	C	G	21217022	3	3	22	1	0	0	0	0	1	0	0	0	7535	855	30	4	290	4	IFNA16	9	21217022	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88	21217022	119996409	5083	10191										
IFNA14	3448	hgsc.bcm.edu	37	chr9	21239504	21239504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgattctttggaagtatttcTtcacagccaggatggagtcc	10	8	3	1	rs140823004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21239504T>C	ENST00000380222.2	-	1	474	c.431A>G	c.(430-432)aAg>aGg	p.K144R		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	144					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAGTATTTCTTCACAGCCAG	0.463																																					p.K144R		Atlas-SNP	.											IFNA14,NS,carcinoma,0,1	IFNA14	29	1	0			c.A431G						scavenged	.	T	ARG/LYS	0,4406		0,0,2203	222	223	223		431	-6.8	0	9	dbSNP_134	223	1,8599		0,1,4299	no	missense	IFNA14	NM_002172.2	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	144/190	21239504	1,13005	2203	4300	6503	SO:0001583	missense	3448	exon1			TATTTCTTCACAG		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.431A>G	9.37:g.21239504T>C	ENSP00000369571:p.Lys144Arg	Somatic	357	0	0		WXS	Illumina HiSeq	Phase_I	401	47	0.117207	NM_002172	Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	-	0.215	-1.033570	0.02029	0.0	1.16E-4	ENSG00000228083	ENST00000380222	T	0.03745	3.82	3.38	-6.76	0.01732	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.418930	0.25194	N	0.032432	T	0.00967	0.0032	N	0.02368	-0.58	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34378	-0.9831	10	0.02654	T	1	.	6.649	0.22951	0.1395:0.2029:0.0:0.6576	.	144	P01570	IFN14_HUMAN	R	144	ENSP00000369571:K144R	ENSP00000369571:K144R	K	-	2	0	IFNA14	21229504	0.000000	0.05858	0.002000	0.10522	0.341000	0.28922	-3.552000	0.00433	-1.276000	0.02414	-1.307000	0.01316	AAG	T|1.000;C|0.000	0.000	strong		0.463	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		C	21239504	T	C	21239504	3	2	22	1	0	0	0	0	1	0	0	0	7534	1609	56	3	142	3	IFNA14	9	21239504	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22482	21239504	119973927	5084	10192										
IFNA14	3448	hgsc.bcm.edu	37	chr9	21239578	21239578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgtatcacacaggcttcCaggtcattcatttgctggaa	8	11	3	0	rs141933410		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21239578C>T	ENST00000380222.2	-	1	400	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	119					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CACAGGCTTCCAGGTCATTCA	0.448																																					p.L119L		Atlas-SNP	.											.	IFNA14	29	.	0			c.G357A						PASS	.						150	156	154					9																	21239578		2203	4300	6503	SO:0001819	synonymous_variant	3448	exon1			GGCTTCCAGGTCA		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.357G>A	9.37:g.21239578C>T		Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	429	43	0.100233	NM_002172	Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	CCDS6501.1																																																																																			C|0.999;G|0.000;T|0.001	0.001	strong		0.448	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		T	21239578	C	T	21239578	2	4	22	1	0	0	0	0	0	0	0	1	7534	581	21	2		2	IFNA14	9	21239578	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74	21239578	119973853	5085	10193										
IFNA14	3448	hgsc.bcm.edu	37	chr9	21239589	21239589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggcttccaggtcattcaTttgctggaaaagttcaatgt	9	8	3	0	rs551644142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21239589T>G	ENST00000380222.2	-	1	389	c.346A>C	c.(346-348)Atg>Ctg	p.M116L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	116					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTCATTCATTTGCTGGAAA	0.463													T|||	19	0.00379393	0.0061	0.0014	5008	,	,		18999	0.0		0.0089	False		,,,				2504	0.001				p.M116L		Atlas-SNP	.											IFNA14,NS,haematopoietic_neoplasm,+2,3	IFNA14	29	3	0			c.A346C						scavenged	.						137	143	141					9																	21239589		2203	4300	6503	SO:0001583	missense	3448	exon1			CATTCATTTGCTG		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.346A>C	9.37:g.21239589T>G	ENSP00000369571:p.Met116Leu	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	404	35	0.0866337	NM_002172	Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.777501	0.00640	.	.	ENSG00000228083	ENST00000380222	T	0.02216	4.39	3.38	2.46	0.29980	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.649130	0.15209	N	0.274576	T	0.00496	0.0016	N	0.00057	-2.36	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43925	-0.9361	10	0.02654	T	1	.	8.3389	0.32232	0.0:0.0:0.5688:0.4312	.	116	P01570	IFN14_HUMAN	L	116	ENSP00000369571:M116L	ENSP00000369571:M116L	M	-	1	0	IFNA14	21229589	0.001000	0.12720	0.066000	0.19879	0.025000	0.11179	0.128000	0.15810	0.748000	0.32831	-0.829000	0.03081	ATG	.	.	none		0.463	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		G	21239589	T	G	21239589	3	3	22	1	0	0	0	0	1	0	0	0	7534	1493	52	5	227	5	IFNA14	9	21239589	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11	21239589	119973842	5086	10194										
IFNA5	3442	hgsc.bcm.edu	37	chr9	21305048	21305048	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttgagccttctggaactGgttgccatcaaactcctcct	9	13	2	1	rs138121530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21305048G>C	ENST00000259555.4	-	1	264	c.208C>G	c.(208-210)Cag>Gag	p.Q70E		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	70					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCTGGAACTGGTTGCCATCA	0.473													G|||	60	0.0119808	0.0439	0.0029	5008	,	,		23310	0.0		0.0	False		,,,				2504	0.0				p.Q70E		Atlas-SNP	.											.	IFNA5	21	.	0			c.C208G						PASS	.	G	GLU/GLN	212,4194	131.0+/-167.6	3,206,1994	139	130	133		208	4.2	0	9	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	IFNA5	NM_002169.2	29	3,208,6292	CC,CG,GG		0.0233,4.8116,1.6454	benign	70/190	21305048	214,12792	2203	4300	6503	SO:0001583	missense	3442	exon1			GGAACTGGTTGCC		CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"Interferons"	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.208C>G	9.37:g.21305048G>C	ENSP00000259555:p.Gln70Glu	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	288	138	0.479167	NM_002169	Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	CCDS6502.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	G	13.34	2.206733	0.39003	0.048116	2.33E-4	ENSG00000147873	ENST00000259555	T	0.04275	3.66	4.16	4.16	0.48862	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.474897	0.22261	N	0.062416	T	0.02610	0.0079	M	0.85373	2.75	0.09310	N	1	B	0.25743	0.133	P	0.45712	0.491	T	0.02596	-1.1136	10	0.72032	D	0.01	.	10.4841	0.44711	0.0:0.1982:0.8018:0.0	.	70	P01569	IFNA5_HUMAN	E	70	ENSP00000259555:Q70E	ENSP00000259555:Q70E	Q	-	1	0	IFNA5	21295048	0.002000	0.14202	0.014000	0.15608	0.007000	0.05969	1.019000	0.30014	2.052000	0.61016	0.537000	0.68136	CAG	G|0.984;C|0.016	0.016	strong		0.473	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		C	21305048	G	C	21305048	3	2	22	1	0	0	0	0	1	0	0	0	7540	1357	47	4	365	4	IFNA5	9	21305048	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	65459	21305048	119908383	5087	10195										
IFNA6	3443	hgsc.bcm.edu	37	chr9	21350487	21350487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggagtcctcattcatcaGgggagtccctcccacccaca	9	15	3	0	rs61736258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21350487G>A	ENST00000380210.1	-	1	890	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	134					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCATTCATCAGGGGAGTCCCT	0.498													G|||	124	0.0247604	0.09	0.0072	5008	,	,		20965	0.0		0.0	False		,,,				2504	0.0				p.L134L		Atlas-SNP	.											.	IFNA6	27	.	0			c.C400T						PASS	.	G		351,4055	181.2+/-209.3	15,321,1867	200	202	202		400	0.6	0	9	dbSNP_129	202	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFNA6	NM_021002.2		15,323,6165	AA,AG,GG		0.0233,7.9664,2.7141		134/190	21350487	353,12653	2203	4300	6503	SO:0001819	synonymous_variant	3443	exon1			TCATCAGGGGAGT		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.400C>T	9.37:g.21350487G>A		Somatic	371	0	0		WXS	Illumina HiSeq	Phase_I	361	179	0.495845	NM_021002	Q5VYQ1	Silent	SNP	ENST00000380210.1	37	CCDS6504.1																																																																																			G|0.971;A|0.029	0.029	strong		0.498	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		A	21350487	G	A	21350487	2	1	22	1	0	0	0	0	0	0	0	1	7541	991	35	2		2	IFNA6	9	21350487	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45439	21350487	119862944	5088	10196										
IFNA13	3447	hgsc.bcm.edu	37	chr9	21367519	21367519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctctgacaacctcccagGcacaagggctgtatttcttc	8	14	2	1	rs145283706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:21367519G>C	ENST00000449498.1	-	1	556	c.491C>G	c.(490-492)gCc>gGc	p.A164G		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	163					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AACCTCCCAGGCACAAGGGCT	0.443																																					p.A164G		Atlas-SNP	.											.	IFNA13	19	.	0			c.C491G						PASS	.						108	102	104					9																	21367519		2202	4280	6482	SO:0001583	missense	3447	exon1			TCCCAGGCACAAG		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"Interferons"	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.491C>G	9.37:g.21367519G>C	ENSP00000394494:p.Ala164Gly	Somatic	569	1	0.00175747		WXS	Illumina HiSeq	Phase_I	592	229	0.386824	NM_006900	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852515	0.71719	.	.	ENSG00000233816	ENST00000449498	T	0.18960	2.18	2.56	1.64	0.23874	.	0.126331	0.52532	D	0.000075	T	0.50446	0.1616	M	0.92317	3.295	0.27386	N	0.95527	P	0.39847	0.691	D	0.65140	0.932	T	0.42899	-0.9424	10	0.87932	D	0	.	6.7704	0.23591	0.1469:0.0:0.8531:0.0	.	164	E9PB07	.	G	164	ENSP00000394494:A164G	ENSP00000394494:A164G	A	-	2	0	IFNA13	21357519	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	2.320000	0.43797	0.402000	0.25451	0.313000	0.20887	GCC	G|0.832;C|0.168	0.168	strong		0.443	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		C	21367519	G	C	21367519	3	2	22	1	0	0	0	0	1	0	0	0	7533	1203	42	4	85	4	IFNA13	9	21367519	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17032	21367519	119845912	5089	10197										
C9orf82	79886	hgsc.bcm.edu	37	chr9	26842506	26842506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcaatgtctttctccagGtcatctatctgaccagcttc	5	13	6	1	rs10967558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:26842506G>A	ENST00000333916.5	-	6	967	c.879C>T	c.(877-879)gaC>gaT	p.D293D	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Silent_p.D148D	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	293					apoptotic process (GO:0006915)												CTTTCTCCAGGTCATCTATCT	0.502													G|||	242	0.0483227	0.1747	0.0144	5008	,	,		18187	0.0		0.001	False		,,,				2504	0.0				p.D293D		Atlas-SNP	.											.	.	.	.	0			c.C879T						PASS	.	G	,	585,3821	259.5+/-263.1	32,521,1650	244	228	233		444,879	2.9	1	9	dbSNP_120	233	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	C9orf82	NM_001167575.1,NM_024828.3	,	32,525,5946	AA,AG,GG		0.0465,13.2773,4.5287	,	148/217,293/362	26842506	589,12417	2203	4300	6503	SO:0001819	synonymous_variant	79886	exon6			CTCCAGGTCATCT	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.879C>T	9.37:g.26842506G>A		Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	295	140	0.474576	NM_024828	B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Silent	SNP	ENST00000333916.5	37	CCDS6516.1																																																																																			G|0.941;A|0.059	0.059	strong		0.502	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		A	26842506	G	A	26842506	2	1	22	1	0	0	0	0	0	0	0	1	2499	1252	44	2		2	C9orf82	9	26842506	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5474987	26842506	114370925	5090	10198										
C9orf82	79886	hgsc.bcm.edu	37	chr9	26861106	26861106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgcttattctctctcaCggatgaagcagaatctatac	8	9	3	2	rs12342214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:26861106C>T	ENST00000333916.5	-	5	785	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Missense_Mutation_p.V88M	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	233			V -> M (in dbSNP:rs12342214).		apoptotic process (GO:0006915)												TTCTCTCTCACGGATGAAGCA	0.318													T|||	257	0.0513179	0.1868	0.013	5008	,	,		15800	0.0		0.001	False		,,,				2504	0.0				p.V233M		Atlas-SNP	.											.	.	.	.	0			c.G697A						PASS	.	T	MET/VAL,MET/VAL	602,3804	769.0+/-413.6	30,542,1631	95	104	101		262,697	0.6	0.4	9	dbSNP_120	101	3,8597	818.4+/-406.9	0,3,4297	yes	missense,missense	C9orf82	NM_001167575.1,NM_024828.3	21,21	30,545,5928	TT,TC,CC		0.0349,13.6632,4.6517	benign,benign	88/217,233/362	26861106	605,12401	2203	4300	6503	SO:0001583	missense	79886	exon5			CTCTCACGGATGA	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.697G>A	9.37:g.26861106C>T	ENSP00000369431:p.Val233Met	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	170	72	0.423529	NM_024828	B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	CCDS6516.1	94	0.04304029304029304	89	0.18089430894308944	5	0.013812154696132596	0	0.0	0	0.0	T	11.16	1.556553	0.27827	0.136632	3.49E-4	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.44881	0.91;0.92	5.71	0.612	0.17591	.	0.254994	0.31381	N	0.007741	T	0.00039	0.0001	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.06405	0.002	T	0.18272	-1.0342	9	0.33940	T	0.23	0.0412	1.6248	0.02721	0.1489:0.2564:0.3337:0.261	rs12342214;rs52805377;rs12342214	233	Q9H8G2	CI082_HUMAN	M	233;88	ENSP00000369431:V233M;ENSP00000444885:V88M	ENSP00000369431:V233M	V	-	1	0	C9orf82	26851106	0.831000	0.29352	0.434000	0.26772	0.937000	0.57800	-0.048000	0.11944	-0.404000	0.07610	-1.904000	0.00526	GTG	C|0.939;T|0.061	0.061	strong		0.318	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		T	26861106	C	T	26861106	3	4	22	1	0	0	0	0	1	0	0	0	2499	536	19	1	396	1	C9orf82	9	26861106	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18600	26861106	114352325	5091	10199										
IFT74	80173	hgsc.bcm.edu	37	chr9	27062721	27062721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggatgctttacatagcaCcagcggaaactgagtttaag	11	8	0	1	rs3429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:27062721C>T	ENST00000443698.1	+	20	1961	c.1790C>T	c.(1789-1791)aCc>aTc	p.T597I	IFT74_ENST00000433700.1_Missense_Mutation_p.T597I|IFT74_ENST00000380062.5_Missense_Mutation_p.T597I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	597			T -> I (in dbSNP:rs3429). {ECO:0000269|PubMed:14702039}.		cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTACATAGCACCAGCGGAAAC	0.393													C|||	527	0.105232	0.0408	0.0706	5008	,	,		15575	0.0308		0.1441	False		,,,				2504	0.2536				p.T597I		Atlas-SNP	.											.	IFT74	46	.	0			c.C1790T						PASS	.	C	ILE/THR,ILE/THR,ILE/THR	192,3546		5,182,1682	96	88	90		1790,1790,1790	3.9	0	9	dbSNP_36	90	1046,7146		67,912,3117	yes	missense,missense,missense	IFT74	NM_001099222.1,NM_001099223.1,NM_025103.2	89,89,89	72,1094,4799	TT,TC,CC		12.7686,5.1364,10.3772	benign,benign,benign	597/601,597/601,597/601	27062721	1238,10692	1869	4096	5965	SO:0001583	missense	80173	exon20			ATAGCACCAGCGG	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1790C>T	9.37:g.27062721C>T	ENSP00000404122:p.Thr597Ile	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	118	54	0.457627	NM_001099222	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	CCDS43793.1	172	0.07875457875457875	21	0.042682926829268296	29	0.08011049723756906	18	0.03146853146853147	104	0.13720316622691292	C	11.59	1.684685	0.29872	0.051364	0.127686	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12039	2.72;2.72;2.72	5.9	3.87	0.44632	.	0.421653	0.24162	N	0.040969	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B	0.22983	0.078	B	0.29785	0.107	T	0.26292	-1.0107	9	0.52906	T	0.07	-0.7514	8.2372	0.31634	0.0:0.6095:0.3013:0.0893	rs3429;rs3739543;rs17641379;rs52824285;rs3429	597	Q96LB3	IFT74_HUMAN	I	597	ENSP00000389224:T597I;ENSP00000404122:T597I;ENSP00000369402:T597I	ENSP00000369402:T597I	T	+	2	0	IFT74	27052721	0.902000	0.30710	0.026000	0.17262	0.675000	0.39556	1.796000	0.38794	0.641000	0.30601	0.650000	0.86243	ACC	C|0.900;T|0.100	0.100	strong		0.393	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		T	27062721	C	T	27062721	3	4	22	1	0	0	0	0	1	0	0	0	7563	507	18	2	1933	2	IFT74	9	27062721	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201615	27062721	114150710	5092	10200										
TEK	7010	hgsc.bcm.edu	37	chr9	27205021	27205021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatattgcaattgaagagGgcaaatgtgcaaaggagaat	11	4	1	3	rs542913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:27205021G>A	ENST00000380036.4	+	14	2764	c.2322G>A	c.(2320-2322)agG>agA	p.R774R	TEK_ENST00000519097.1_Silent_p.R627R|TEK_ENST00000406359.4_Silent_p.R731R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	774					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AATTGAAGAGGGCAAATGTGC	0.493													G|||	756	0.150958	0.0764	0.1599	5008	,	,		19378	0.122		0.2525	False		,,,				2504	0.1708				p.R774R		Atlas-SNP	.											.	TEK	250	.	0			c.G2322A						PASS	.	G		525,3881	239.6+/-250.7	33,459,1711	141	110	120		2322	2.2	1	9	dbSNP_83	120	2223,6377	378.3+/-338.9	283,1657,2360	no	coding-synonymous	TEK	NM_000459.3		316,2116,4071	AA,AG,GG		25.8488,11.9156,21.1287		774/1125	27205021	2748,10258	2203	4300	6503	SO:0001819	synonymous_variant	7010	exon14			GAAGAGGGCAAAT	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2322G>A	9.37:g.27205021G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	227	103	0.453745	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	CCDS6519.1																																																																																			G|0.808;A|0.192	0.192	strong		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27205021	G	A	27205021	2	1	22	1	0	0	0	0	0	0	0	1	15748	1223	43	2		2	TEK	9	27205021	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	142300	27205021	114008410	5093	10201										
TEK	7010	hgsc.bcm.edu	37	chr9	27220066	27220066	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcacaccctactgcggGatgacttgtgcagaactcta	12	11	1	2	rs2273719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:27220066G>A	ENST00000380036.4	+	21	3565	c.3123G>A	c.(3121-3123)ggG>ggA	p.G1041G	TEK_ENST00000519097.1_Silent_p.G893G|TEK_ENST00000406359.4_Silent_p.G998G	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1041	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCTACTGCGGGATGACTTGTG	0.527													G|||	1123	0.224241	0.3888	0.1614	5008	,	,		18605	0.1736		0.1332	False		,,,				2504	0.1922				p.G1041G		Atlas-SNP	.											.	TEK	250	.	0			c.G3123A						PASS	.	G		1559,2847	489.0+/-361.4	266,1027,910	139	135	136		3123	-0.5	1	9	dbSNP_100	136	1362,7238	265.7+/-286.3	99,1164,3037	no	coding-synonymous	TEK	NM_000459.3		365,2191,3947	AA,AG,GG		15.8372,35.3836,22.4589		1041/1125	27220066	2921,10085	2203	4300	6503	SO:0001819	synonymous_variant	7010	exon21			CTGCGGGATGACT	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3123G>A	9.37:g.27220066G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	161	82	0.509317	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	CCDS6519.1																																																																																			G|0.791;A|0.209	0.209	strong		0.527	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27220066	G	A	27220066	2	1	22	1	0	0	0	0	0	0	0	1	15748	1161	41	2		2	TEK	9	27220066	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15045	27220066	113993365	5094	10202										
C9orf11	54586	hgsc.bcm.edu	37	chr9	27296705	27296705	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcttcctgcttattaacAtcttcatttaaaggtagcac	4	9	3	0	rs3824406	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:27296705A>G	ENST00000380032.3	-	2	191	c.108T>C	c.(106-108)gaT>gaC	p.D36D	EQTN_ENST00000537675.1_Silent_p.D36D|EQTN_ENST00000380031.1_Silent_p.D36D|EQTN_ENST00000484994.1_5'UTR	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	36					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											GCTTATTAACATCTTCATTTA	0.294													A|||	611	0.122005	0.0129	0.0807	5008	,	,		17016	0.1994		0.1889	False		,,,				2504	0.1503				p.D36D		Atlas-SNP	.											.	.	.	.	0			c.T108C						PASS	.	A	,	164,4242	108.6+/-147.0	2,160,2041	86	83	84		108,108	1.3	0	9	dbSNP_107	84	1478,7102	279.5+/-294.0	122,1234,2934	no	coding-synonymous,coding-synonymous	C9orf11	NM_001161585.1,NM_020641.2	,	124,1394,4975	GG,GA,AA		17.2261,3.7222,12.6444	,	36/266,36/295	27296705	1642,11344	2203	4290	6493	SO:0001819	synonymous_variant	54586	exon2			ATTAACATCTTCA	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.108T>C	9.37:g.27296705A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	211	106	0.50237	NM_001161585	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	CCDS35001.1																																																																																			A|0.873;G|0.127	0.127	strong		0.294	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		G	27296705	A	G	27296705	2	3	22	1	0	0	0	0	0	0	0	1	2448	214	8	2		2	C9orf11	9	27296705	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76639	27296705	113916726	5095	10203										
ACO1	48	hgsc.bcm.edu	37	chr9	32425910	32425910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatctatgataacactgaAttcacccttgctcatggttc	5	10	3	2	rs3780473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:32425910A>G	ENST00000309951.6	+	11	1401	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E	ACO1_ENST00000379923.1_Silent_p.E421E|ACO1_ENST00000541043.1_Silent_p.E322E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	421					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		ATAACACTGAATTCACCCTTG	0.393													A|||	1772	0.353834	0.2632	0.3386	5008	,	,		17408	0.5516		0.336	False		,,,				2504	0.3016				p.E421E		Atlas-SNP	.											.	ACO1	149	.	0			c.A1263G						PASS	.	A		1204,3202	417.8+/-338.1	167,870,1166	142	110	121		1263	0.7	1	9	dbSNP_107	121	3048,5552	468.5+/-367.3	566,1916,1818	no	coding-synonymous	ACO1	NM_002197.2		733,2786,2984	GG,GA,AA		35.4419,27.3264,32.6926		421/890	32425910	4252,8754	2203	4300	6503	SO:0001819	synonymous_variant	48	exon11			CACTGAATTCACC	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1263A>G	9.37:g.32425910A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	126	60	0.47619	NM_002197	D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	CCDS6525.1																																																																																			G|0.346;N|0.000	0.346	strong		0.393	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		G	32425910	A	G	32425910	2	3	22	1	0	0	0	0	0	0	0	1	146	98	4	2		2	ACO1	9	32425910	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5129205	32425910	108787521	5096	10204										
DDX58	23586	hgsc.bcm.edu	37	chr9	32487521	32487521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccagattgtgtttgacTgttgctatcactgacgcatc	8	11	1	3	rs2274863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:32487521T>C	ENST00000379883.2	-	9	1480	c.1323A>G	c.(1321-1323)acA>acG	p.T441T	DDX58_ENST00000545044.1_Silent_p.T238T|DDX58_ENST00000379868.1_Silent_p.T238T|DDX58_ENST00000379882.1_Silent_p.T396T|DDX58_ENST00000542096.1_Silent_p.T370T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	441	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTGTTTGACTGTTGCTATCA	0.443													T|||	433	0.0864617	0.1505	0.0288	5008	,	,		19802	0.1617		0.0	False		,,,				2504	0.0521				p.T441T		Atlas-SNP	.											.	DDX58	82	.	0			c.A1323G						PASS	.	T		498,3908	230.1+/-244.4	34,430,1739	135	123	127		1323	1	1	9	dbSNP_100	127	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous	DDX58	NM_014314.3		34,446,6023	CC,CT,TT		0.186,11.3028,3.952		441/926	32487521	514,12492	2203	4300	6503	SO:0001819	synonymous_variant	23586	exon9			TTTGACTGTTGCT	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1323A>G	9.37:g.32487521T>C		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	210	85	0.404762	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	CCDS6526.1																																																																																			T|0.921;C|0.079	0.079	strong		0.443	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		C	32487521	T	C	32487521	2	2	22	1	0	0	0	0	0	0	0	1	4375	1567	55	3		3	DDX58	9	32487521	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	61611	32487521	108725910	5097	10205										
DDX58	23586	hgsc.bcm.edu	37	chr9	32492529	32492529	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccatcatccccttagtaGagcaaatctaagcaaggtaa	7	11	2	1	rs55789327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:32492529G>A	ENST00000379883.2	-	4	588	c.431C>T	c.(430-432)tCt>tTt	p.S144F	DDX58_ENST00000545044.1_Intron|DDX58_ENST00000379868.1_Intron|DDX58_ENST00000379882.1_Missense_Mutation_p.S99F|DDX58_ENST00000542096.1_Missense_Mutation_p.S73F	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	144	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCCCTTAGTAGAGCAAATCTA	0.373													G|||	239	0.0477236	0.1104	0.0072	5008	,	,		21117	0.0407		0.0	False		,,,				2504	0.0481				p.S144F		Atlas-SNP	.											.	DDX58	82	.	0			c.C431T						PASS	.	G	PHE/SER	349,4057	179.4+/-207.9	15,319,1869	120	115	117		431	-2	0	9	dbSNP_129	117	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DDX58	NM_014314.3	155	15,325,6163	AA,AG,GG		0.0698,7.921,2.7295	benign	144/926	32492529	355,12651	2203	4300	6503	SO:0001583	missense	23586	exon4			TTAGTAGAGCAAA	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.431C>T	9.37:g.32492529G>A	ENSP00000369213:p.Ser144Phe	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	203	108	0.53202	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	82	0.037545787545787544	54	0.10975609756097561	4	0.011049723756906077	24	0.04195804195804196	0	0.0	G	8.541	0.873187	0.17322	0.07921	6.98E-4	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.35789	1.29;1.29;1.29	5.22	-2.04	0.07343	.	1.364960	0.05002	N	0.469210	T	0.00384	0.0012	N	0.20685	0.6	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.09377	0.004;0.002;0.002	T	0.21109	-1.0255	10	0.56958	D	0.05	0.2274	1.0358	0.01548	0.407:0.1539:0.2819:0.1572	rs55789327	99;73;144	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	F	99;144;73;144	ENSP00000369212:S99F;ENSP00000369213:S144F;ENSP00000442160:S73F	ENSP00000369212:S99F	S	-	2	0	DDX58	32482529	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.367000	0.07553	-0.191000	0.10448	-0.157000	0.13467	TCT	G|0.972;A|0.028	0.028	strong		0.373	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		A	32492529	G	A	32492529	3	1	22	1	0	0	0	0	1	0	0	0	4375	942	33	2	2406	2	DDX58	9	32492529	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5008	32492529	108720902	5098	10206										
APTX	54840	hgsc.bcm.edu	37	chr9	32984803	32984803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaagaccagccaatggtaaCgggcctttgggtatttatcc	11	9	0	1	rs150886026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:32984803C>T	ENST00000379819.1	-	6	637	c.638G>A	c.(637-639)cGt>cAt	p.R213H	APTX_ENST00000468275.1_Missense_Mutation_p.R199H|APTX_ENST00000436040.2_Intron|APTX_ENST00000476858.1_Missense_Mutation_p.R159H|APTX_ENST00000397172.3_Missense_Mutation_p.R141H|APTX_ENST00000379817.2_Missense_Mutation_p.R199H|APTX_ENST00000379813.3_Missense_Mutation_p.R199H|APTX_ENST00000309615.3_Missense_Mutation_p.R213H|APTX_ENST00000463596.1_Missense_Mutation_p.R199H|APTX_ENST00000379825.2_Missense_Mutation_p.R213H			Q7Z2E3	APTX_HUMAN	aprataxin	213	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.		R -> H (in AOA; dbSNP:rs150886026). {ECO:0000269|PubMed:11586300}.		cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CCAATGGTAACGGGCCTTTGG	0.473								Editing and processing nucleases					C|||	31	0.0061901	0.0197	0.0058	5008	,	,		21579	0.0		0.0	False		,,,				2504	0.001				p.R213H		Atlas-SNP	.											.	APTX	44	.	0			c.G638A	GRCh37	CM012895	APTX	M	rs150886026	PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	80,4326	69.2+/-107.0	0,80,2123	162	146	152		638,596,476,596,422,434,638,596	4	0.8	9	dbSNP_134	152	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	APTX	NM_001195248.1,NM_001195249.1,NM_001195250.1,NM_001195251.1,NM_001195252.1,NM_001195254.1,NM_175069.2,NM_175073.2	29,29,29,29,29,29,29,29	0,80,6423	TT,TC,CC		0.0,1.8157,0.6151	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	213/357,199/343,159/303,199/293,141/285,145/289,213/307,199/343	32984803	80,12926	2203	4300	6503	SO:0001583	missense	54840	exon6			TGGTAACGGGCCT	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.638G>A	9.37:g.32984803C>T	ENSP00000369147:p.Arg213His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	112	63	0.5625	NM_001195248	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37		9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	C	13.81	2.348650	0.41599	0.018157	0.0	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000379812;ENST00000473221;ENST00000477119	D;D;D;D;D;D;D;D;D;D;D;D	0.95656	-3.77;-3.77;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-3.77;-3.77;-3.77	5.81	3.96	0.45880	Histidine triad motif (1);Histidine triad-like motif (1);	0.047355	0.85682	D	0.000000	D	0.92257	0.7544	M	0.64170	1.965	0.80722	D	1	D;P;P;P;P	0.64830	0.994;0.864;0.632;0.769;0.632	P;B;B;B;B	0.55785	0.784;0.304;0.288;0.352;0.288	D	0.91337	0.5094	10	0.52906	T	0.07	-11.4381	11.0972	0.48152	0.0:0.8459:0.0:0.1541	.	159;141;213;145;213	C9JZ40;Q7Z2E3-3;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;.;APTX_HUMAN	H	213;213;141;199;213;199;199;159;194;199;141;159;145	ENSP00000369153:R213H;ENSP00000311547:R213H;ENSP00000380357:R141H;ENSP00000369145:R199H;ENSP00000369147:R213H;ENSP00000420263:R199H;ENSP00000419846:R199H;ENSP00000419042:R159H;ENSP00000369141:R199H;ENSP00000369140:R141H;ENSP00000419020:R159H;ENSP00000417649:R145H	ENSP00000311547:R213H	R	-	2	0	APTX	32974803	1.000000	0.71417	0.798000	0.32154	0.012000	0.07955	6.082000	0.71318	1.451000	0.47736	0.655000	0.94253	CGT	C|0.994;T|0.006	0.006	strong		0.473	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		T	32984803	C	T	32984803	3	4	22	1	0	0	0	0	1	0	0	0	820	536	19	1	453	1	APTX	9	32984803	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	492274	32984803	108228628	5099	10207										
SPINK4	27290	hgsc.bcm.edu	37	chr9	33240225	33240225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggccgtccgccagtggGtaatcgccctggccttggct	14	14	0	0	rs706107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:33240225G>A	ENST00000379721.3	+	1	64	c.19G>A	c.(19-21)Gta>Ata	p.V7I	SPINK4_ENST00000379725.1_Intron|SPINK4_ENST00000379723.1_Intron	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	7			V -> I (in dbSNP:rs706107).		response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CCGCCAGTGGGTAATCGCCCT	0.607													G|||	1904	0.380192	0.7148	0.2622	5008	,	,		17914	0.2569		0.2485	False		,,,				2504	0.274				p.V7I		Atlas-SNP	.											.	SPINK4	7	.	0			c.G19A						PASS	.	G	ILE/VAL	2832,1574	640.5+/-397.3	918,996,289	69	60	63		19	-7.2	0	9	dbSNP_86	63	2010,6588	334.9+/-321.2	226,1558,2515	yes	missense	SPINK4	NM_014471.1	29	1144,2554,2804	AA,AG,GG		23.3775,35.724,37.2347	benign	7/87	33240225	4842,8162	2203	4299	6502	SO:0001583	missense	27290	exon1			CAGTGGGTAATCG	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"Serine peptidase inhibitors, Kazal type"	16646	protein-coding gene	gene with protein product		613929	"serine protease inhibitor, Kazal type 4"			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.19G>A	9.37:g.33240225G>A	ENSP00000369045:p.Val7Ile	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	215	214	0.995349	NM_014471	Q2YDT7	Missense_Mutation	SNP	ENST00000379721.3	37	CCDS6536.1	766	0.3507326007326007	331	0.6727642276422764	104	0.287292817679558	148	0.25874125874125875	183	0.24142480211081793	G	2.626	-0.287494	0.05605	0.64276	0.233775	ENSG00000122711	ENST00000379721	T	0.68025	-0.3	4.26	-7.22	0.01485	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.799999999996249E-5	B	0.14438	0.01	B	0.08055	0.003	T	0.41840	-0.9486	7	0.07990	T	0.79	.	0.5067	0.00588	0.328:0.2853:0.1523:0.2344	rs706107;rs3818828;rs61549733;rs706107	7	O60575	ISK4_HUMAN	I	7	ENSP00000369045:V7I	ENSP00000369045:V7I	V	+	1	0	SPINK4	33230225	0.008000	0.16893	0.000000	0.03702	0.009000	0.06853	-0.667000	0.05274	-1.612000	0.01579	0.462000	0.41574	GTA	G|0.621;A|0.379	0.379	strong		0.607	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471		A	33240225	G	A	33240225	3	1	22	1	0	0	0	0	1	0	0	0	15060	1261	44	2	21	2	SPINK4	9	33240225	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	255422	33240225	107973206	5100	10208										
AQP7	364	hgsc.bcm.edu	37	chr9	33385134	33385134	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatcccatcttgggcaataCggttatcccgtggtcttcat	9	11	3	1	rs61073250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:33385134C>T	ENST00000537089.1	-	0	1298				AQP7_ENST00000377425.4_3'UTR			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTGGGCAATACGGTTATCCCG	0.562													c|||	234	0.0467252	0.1732	0.0072	5008	,	,		18995	0.0		0.0	False		,,,				2504	0.0				p.V300I		Atlas-SNP	.											.	AQP7	58	.	0			c.G898A						PASS	.	C	ILE/VAL	519,3887	236.1+/-248.4	25,469,1709	142	140	141		898	0.9	0	9	dbSNP_129	141	8,8592	6.4+/-24.3	0,8,4292	no	missense	AQP7	NM_001170.1	29	25,477,6001	TT,TC,CC		0.093,11.7794,4.052	benign	300/343	33385134	527,12479	2203	4300	6503	SO:0001624	3_prime_UTR_variant	364	exon8			GCAATACGGTTAT	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.*482G>A	9.37:g.33385134C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	150	87	0.58	NM_001170	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		76	0.0347985347985348	73	0.1483739837398374	3	0.008287292817679558	0	0.0	0	0.0	c	10.83	1.461549	0.26248	0.117794	9.3E-4	ENSG00000165269	ENST00000379507;ENST00000297988	D;D	0.86164	-2.07;-2.08	3.75	0.85	0.18980	.	.	.	.	.	T	0.01124	0.0037	L	0.32530	0.975	0.09310	N	1	B	0.26602	0.154	B	0.17098	0.017	T	0.04128	-1.0975	9	0.39692	T	0.17	0.5079	3.07	0.06227	0.2121:0.5537:0.0:0.2342	rs61073250	300	O14520	AQP7_HUMAN	I	299;300	ENSP00000368821:V299I;ENSP00000297988:V300I	ENSP00000297988:V300I	V	-	1	0	AQP7	33375134	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.123000	0.10611	-0.001000	0.14495	-0.354000	0.07668	GTA	C|0.964;T|0.036	0.036	strong		0.562	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385134	C	T	33385134	1	4	22	0	1	0	0	0	0	0	0	0	831	536	19	1		1	AQP7	9	33385134	3'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	144909	33385134	107828297	5101	10209										
UBAP2	55833	hgsc.bcm.edu	37	chr9	33927880	33927880	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggctgttcgcggtgttCatgctactggacaggctggc	15	10	1	1	rs16935295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:33927880C>G	ENST00000418786.2	-	17	2152	c.2060G>C	c.(2059-2061)tGa>tCa	p.*687S	UBAP2_ENST00000379238.1_Missense_Mutation_p.M762I|UBAP2_ENST00000539807.1_Missense_Mutation_p.M517I|UBAP2_ENST00000379235.1_Start_Codon_SNP_p.M1I|UBAP2_ENST00000360802.1_Missense_Mutation_p.M762I|UBAP2_ENST00000449054.1_Missense_Mutation_p.M762I|UBAP2_ENST00000379239.4_Missense_Mutation_p.M495I					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCGCGGTGTTCATGCTACTGG	0.637													C|||	151	0.0301518	0.1104	0.0058	5008	,	,		19308	0.0		0.001	False		,,,				2504	0.0				p.M762I		Atlas-SNP	.											.	UBAP2	82	.	0			c.G2286C						PASS	.	C	ILE/MET	448,3958	214.8+/-234.0	24,400,1779	90	87	88		2286	4.8	0.7	9	dbSNP_123	88	6,8594	5.0+/-18.6	0,6,4294	yes	missense	UBAP2	NM_018449.2	10	24,406,6073	GG,GC,CC		0.0698,10.168,3.4907	benign	762/1120	33927880	454,12552	2203	4300	6503	SO:0001578	stop_lost	55833	exon20			GGTGTTCATGCTA	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000418786.2:c.2060G>C	9.37:g.33927880C>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	142	88	0.619718	NM_018449		Missense_Mutation	SNP	ENST00000418786.2	37		43|43	0.019688644688644688|0.019688644688644688	40|40	0.08130081300813008|0.08130081300813008	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	11.68|11.68	1.711377|1.711377	0.30322|0.30322	0.10168|0.10168	6.98E-4|6.98E-4	ENSG00000137073|ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580|ENST00000418786	T;T;T;T;T;T|.	0.33216|.	1.66;1.66;1.66;1.42;1.66;1.66|.	5.77|5.77	4.85|4.85	0.62838|0.62838	.|.	0.315392|.	0.42682|.	D|.	0.000678|.	T|.	0.02267|.	0.0070|.	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.12013|.	0.005;0.002;0.002;0.002;0.003|.	B;B;B;B;B|.	0.09377|.	0.004;0.004;0.004;0.004;0.002|.	T|.	0.00761|.	-1.1577|.	10|.	0.23891|.	T|.	0.37|.	-1.1258|-1.1258	16.2411|16.2411	0.82409|0.82409	0.0:0.8668:0.1332:0.0|0.0:0.8668:0.1332:0.0	rs16935295;rs52823002;rs16935295|rs16935295;rs52823002;rs16935295	687;517;495;671;762|.	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2|.	.;.;.;.;UBAP2_HUMAN|.	I|S	762;762;762;671;1;495;517;198|687	ENSP00000368540:M762I;ENSP00000416932:M762I;ENSP00000354039:M762I;ENSP00000368537:M1I;ENSP00000368541:M495I;ENSP00000439329:M517I|.	ENSP00000259602:M198I|.	M|X	-|-	3|2	0|2	UBAP2|UBAP2	33917880|33917880	1.000000|1.000000	0.71417|0.71417	0.710000|0.710000	0.30468|0.30468	0.061000|0.061000	0.15899|0.15899	1.399000|1.399000	0.34566|0.34566	1.383000|1.383000	0.46405|0.46405	0.655000|0.655000	0.94253|0.94253	ATG|TGA	C|0.965;G|0.035	0.035	strong		0.637	UBAP2-203	KNOWN	basic	protein_coding	protein_coding		NM_018449		G	33927880	C	G	33927880	4	3	22	1	0	0	0	0	0	0	0	0	16834	826	29	4	1113	4	UBAP2	9	33927880	Nonstop_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	542746	33927880	107285551	5102	10210										
ARID3C	138715	hgsc.bcm.edu	37	chr9	34622389	34622389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaaactggggggcatgcAaggtcgaggtgggtccatag	18	7	0	0	rs3808869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:34622389A>C	ENST00000378909.2	-	5	1095	c.1003T>G	c.(1003-1005)Tgc>Ggc	p.C335G	DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	335	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.		C -> G (in dbSNP:rs3808869).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGGGGCATGCAAGGTCGAGGT	0.627													C|||	3017	0.602436	0.7723	0.598	5008	,	,		16667	0.4802		0.4692	False		,,,				2504	0.6391				p.C335G		Atlas-SNP	.											.	ARID3C	33	.	0			c.T1003G						PASS	.	C	GLY/CYS	3203,1203	415.9+/-337.4	1171,861,171	45	47	46		1003	0.3	0	9	dbSNP_107	46	4398,4202	567.4+/-388.8	1127,2144,1029	yes	missense	ARID3C	NM_001017363.1	159	2298,3005,1200	CC,CA,AA		48.8605,27.3037,41.5577	benign	335/413	34622389	7601,5405	2203	4300	6503	SO:0001583	missense	138715	exon5			GCATGCAAGGTCG		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1003T>G	9.37:g.34622389A>C	ENSP00000368189:p.Cys335Gly	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	121	120	0.991736	NM_001017363		Missense_Mutation	SNP	ENST00000378909.2	37	CCDS35006.1	1233	0.5645604395604396	369	0.75	206	0.569060773480663	294	0.513986013986014	364	0.48021108179419525	C	0.022	-1.413812	0.01145	0.726963	0.511395	ENSG00000205143	ENST00000378909	T	0.38401	1.14	4.61	0.293	0.15742	REKLES domain (1);	0.347888	0.21170	N	0.078986	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	9	0.09084	T	0.74	0.5687	4.0924	0.09975	0.2786:0.4597:0.0:0.2617	rs3808869;rs52800005;rs58670080;rs3808869	335	A6NKF2	ARI3C_HUMAN	G	335	ENSP00000368189:C335G	ENSP00000368189:C335G	C	-	1	0	ARID3C	34612389	0.000000	0.05858	0.003000	0.11579	0.980000	0.70556	-0.178000	0.09782	-0.044000	0.13491	-0.232000	0.12228	TGC	A|0.428;C|0.572	0.572	strong		0.627	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		C	34622389	A	C	34622389	3	2	22	1	0	0	0	0	1	0	0	0	918	130	5	5	246	5	ARID3C	9	34622389	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	694509	34622389	106591042	5103	10211										
UNC13B	10497	hgsc.bcm.edu	37	chr9	35398900	35398900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccaggtacggattgatgaGtgtgttcgacaaatggccga	13	7	0	2	rs12339582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35398900G>T	ENST00000378495.3	+	32	3918	c.3696G>T	c.(3694-3696)gaG>gaT	p.E1232D	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1232D|UNC13B_ENST00000396787.1_Missense_Mutation_p.E1244D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1232			E -> D (in dbSNP:rs12339582).		apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGATTGATGAGTGTGTTCGAC	0.582													G|||	153	0.0305511	0.1067	0.0043	5008	,	,		21512	0.0079		0.001	False		,,,				2504	0.0				p.E1232D		Atlas-SNP	.											.	UNC13B	153	.	0			c.G3696T						PASS	.	G	ASP/GLU	379,4027	191.9+/-217.4	16,347,1840	126	129	128		3696	4.1	1	9	dbSNP_120	128	4,8596	3.7+/-12.6	0,4,4296	yes	missense	UNC13B	NM_006377.3	45	16,351,6136	TT,TG,GG		0.0465,8.6019,2.9448	benign	1232/1592	35398900	383,12623	2203	4300	6503	SO:0001583	missense	10497	exon32			TGATGAGTGTGTT	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3696G>T	9.37:g.35398900G>T	ENSP00000367756:p.Glu1232Asp	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	200	88	0.44	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	69	0.03159340659340659	62	0.12601626016260162	2	0.0055248618784530384	4	0.006993006993006993	1	0.0013192612137203166	G	13.61	2.288018	0.40494	0.086019	4.65E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.10099	2.91;2.91;2.91	5.94	4.07	0.47477	.	0.102509	0.64402	D	0.000003	T	0.00073	0.0002	N	0.25332	0.735	0.50171	D	0.999858	B;B	0.15473	0.013;0.011	B;B	0.14023	0.009;0.01	T	0.52223	-0.8604	10	0.24483	T	0.36	-27.2563	7.8494	0.29446	0.1495:0.1355:0.715:0.0	rs12339582;rs17849224;rs12339582	1232;1232	F8W8M9;O14795	.;UN13B_HUMAN	D	1244;1232;1232;819	ENSP00000380006:E1244D;ENSP00000367756:E1232D;ENSP00000367757:E1232D	ENSP00000367756:E1232D	E	+	3	2	UNC13B	35388900	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.238000	0.18004	1.493000	0.48517	0.557000	0.71058	GAG	G|0.960;T|0.040	0.040	strong		0.582	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35398900	G	T	35398900	3	4	22	1	0	0	0	0	1	0	0	0	16982	1020	36	4	3822	4	UNC13B	9	35398900	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	776511	35398900	105814531	5104	10212										
TESK1	7016	hgsc.bcm.edu	37	chr9	35608962	35608962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccatcaccagaatcaccCcccaactggggggacaatct	7	18	3	1	rs148341917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35608962C>T	ENST00000336395.5	+	10	1354	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	368					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAATCACCCCCCAACTGGG	0.607													C|||	30	0.00599042	0.0129	0.0014	5008	,	,		17980	0.001		0.002	False		,,,				2504	0.0092				p.P368P		Atlas-SNP	.											.	TESK1	46	.	0			c.C1104T						PASS	.	C		63,4343	58.7+/-95.3	0,63,2140	63	70	68		1104	3.4	1	9	dbSNP_134	68	25,8575	17.3+/-56.4	0,25,4275	no	coding-synonymous	TESK1	NM_006285.2		0,88,6415	TT,TC,CC		0.2907,1.4299,0.6766		368/627	35608962	88,12918	2203	4300	6503	SO:0001819	synonymous_variant	7016	exon10			ATCACCCCCCAAC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1104C>T	9.37:g.35608962C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_006285	Q8IXZ8	Silent	SNP	ENST00000336395.5	37	CCDS6580.1																																																																																			C|0.994;T|0.006	0.006	strong		0.607	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		T	35608962	C	T	35608962	2	4	22	1	0	0	0	0	0	0	0	1	15764	610	22	2		2	TESK1	9	35608962	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	210062	35608962	105604469	5105	10213										
CD72	971	hgsc.bcm.edu	37	chr9	35612978	35612978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcattatccatcccgacGgacagcaggtgtctaaaaag	10	10	1	0	rs34791102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35612978G>A	ENST00000396757.1	-	7	865	c.701C>T	c.(700-702)cCg>cTg	p.P234L	CD72_ENST00000259633.4_Missense_Mutation_p.P234L|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	234	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		P -> L (in dbSNP:rs34791102).		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCATCCCGACGGACAGCAGGT	0.423													g|||	309	0.0617013	0.1377	0.0216	5008	,	,		22020	0.005		0.0646	False		,,,				2504	0.0429				p.P234L		Atlas-SNP	.											.	CD72	20	.	0			c.C701T						PASS	.	A	LEU/PRO	553,3853	248.1+/-256.1	39,475,1689	128	115	119		701	3.8	0.3	9	dbSNP_126	119	459,8141	137.1+/-194.1	13,433,3854	yes	missense	CD72	NM_001782.2	98	52,908,5543	AA,AG,GG		5.3372,12.5511,7.781	probably-damaging	234/360	35612978	1012,11994	2203	4300	6503	SO:0001583	missense	971	exon6			CCCGACGGACAGC		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.701C>T	9.37:g.35612978G>A	ENSP00000379980:p.Pro234Leu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_001782		Missense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	113	0.051739926739926737	53	0.10772357723577236	4	0.011049723756906077	3	0.005244755244755245	53	0.06992084432717678	g	6.100	0.386632	0.11524	0.125511	0.053372	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61158	0.13;0.13	5.64	3.81	0.43845	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.306603	0.28414	N	0.015435	T	0.00724	0.0024	M	0.78637	2.42	0.38189	D	0.939854	P;P	0.45986	0.87;0.87	B;B	0.31812	0.136;0.136	T	0.00883	-1.1528	10	0.59425	D	0.04	-8.2535	11.3314	0.49479	0.1584:0.0:0.8416:0.0	rs34791102;rs34791102	234;234	Q5TLG3;P21854	.;CD72_HUMAN	L	234	ENSP00000379980:P234L;ENSP00000259633:P234L	ENSP00000259633:P234L	P	-	2	0	CD72	35602978	0.735000	0.28153	0.325000	0.25375	0.008000	0.06430	0.807000	0.27140	0.352000	0.24053	-0.713000	0.03633	CCG	G|0.929;A|0.071	0.071	strong		0.423	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		A	35612978	G	A	35612978	3	1	22	1	0	0	0	0	1	0	0	0	3034	1116	39	1	390	1	CD72	9	35612978	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4016	35612978	105600453	5106	10214										
CCDC107	203260	hgsc.bcm.edu	37	chr9	35660901	35660901	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggtggagacaaagtctCtgaaactggaacattcctga	12	7	1	3	rs2275420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35660901C>T	ENST00000426546.2	+	5	635	c.569C>T	c.(568-570)tCt>tTt	p.S190F	CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000490970.1_5'Flank|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378409.3_Intron|CCDC107_ENST00000327351.2_Intron	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	190			S -> F (in dbSNP:rs2275420).			integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAAAGTCTCTGAAACTGGA	0.542													C|||	758	0.151358	0.3336	0.0879	5008	,	,		19570	0.0427		0.1312	False		,,,				2504	0.0828				p.S190F		Atlas-SNP	.											.	CCDC107	12	.	0			c.C569T						PASS	.	C	PHE/SER,,,,	1323,3083	445.1+/-347.6	206,911,1086	120	128	126		569,,,,	1.2	0	9	dbSNP_100	126	1168,7432	238.5+/-269.9	79,1010,3211	yes	missense,intron,intron,utr-3,utr-3	C9orf100,CCDC107	NM_174923.2,NM_001195200.1,NM_001195201.1,NM_001195217.1,NM_032818.2	155,,,,	285,1921,4297	TT,TC,CC		13.5814,30.0272,19.1527	probably-damaging,,,,	190/284,,,,	35660901	2491,10515	2203	4300	6503	SO:0001583	missense	203260	exon5			AAGTCTCTGAAAC	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.569C>T	9.37:g.35660901C>T	ENSP00000414964:p.Ser190Phe	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_174923	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	CCDS6583.1	327	0.14972527472527472	163	0.3313008130081301	32	0.08839779005524862	26	0.045454545454545456	106	0.13984168865435356	C	9.796	1.179221	0.21787	0.300272	0.135814	ENSG00000159884	ENST00000426546	T	0.25085	1.82	5.44	1.16	0.20824	.	1.492810	0.03871	N	0.275557	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	D	0.55605	0.972	P	0.53549	0.729	T	0.25187	-1.0139	9	0.59425	D	0.04	-0.0036	3.0663	0.06215	0.3277:0.434:0.15:0.0883	rs2275420;rs52801812;rs59963800;rs2275420	190	Q8WV48	CC107_HUMAN	F	190	ENSP00000414964:S190F	ENSP00000414964:S190F	S	+	2	0	CCDC107	35650901	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.104000	0.15313	0.358000	0.24211	0.655000	0.94253	TCT	C|0.831;T|0.169	0.169	strong		0.542	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		T	35660901	C	T	35660901	3	4	22	1	0	0	0	0	1	0	0	0	2742	913	32	2	587	2	CCDC107	9	35660901	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47923	35660901	105552530	5107	10215										
CCDC107	203260	hgsc.bcm.edu	37	chr9	35661057	35661057	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatggaacctagctacttCctgggaggtggggcggggac	17	9	0	0	rs10441685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35661057C>G	ENST00000426546.2	+	5	791	c.725C>G	c.(724-726)tCc>tGc	p.S242C	CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.S215C|CCDC107_ENST00000327351.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	242			S -> C (in dbSNP:rs10441685).			integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTAGCTACTTCCTGGGAGGTG	0.597													C|||	358	0.0714856	0.1982	0.0216	5008	,	,		19531	0.0139		0.0338	False		,,,				2504	0.0337				p.S242C		Atlas-SNP	.											.	CCDC107	12	.	0			c.C725G						PASS	.	C	CYS/SER,,,,CYS/SER	698,3708	290.4+/-280.9	47,604,1552	72	71	71		644,,,,725	4.4	0	9	dbSNP_119	71	229,8371	93.1+/-155.1	2,225,4073	no	missense,utr-3,utr-3,utr-3,missense	C9orf100,CCDC107	NM_001195200.1,NM_001195201.1,NM_001195217.1,NM_032818.2,NM_174923.2	112,,,,112	49,829,5625	GG,GC,CC		2.6628,15.842,7.1275	possibly-damaging,,,,possibly-damaging	215/257,,,,242/284	35661057	927,12079	2203	4300	6503	SO:0001583	missense	203260	exon5			CTACTTCCTGGGA	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.725C>G	9.37:g.35661057C>G	ENSP00000414964:p.Ser242Cys	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	116	52	0.448276	NM_174923	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	CCDS6583.1	145	0.06639194139194139	99	0.20121951219512196	10	0.027624309392265192	9	0.015734265734265736	27	0.03562005277044855	C	10.84	1.464832	0.26335	0.15842	0.026628	ENSG00000159884	ENST00000426546;ENST00000378409	T;T	0.39592	1.48;1.07	5.34	4.44	0.53790	.	0.688813	0.13667	N	0.371165	T	0.00039	0.0001	L	0.34521	1.04	0.40203	P	0.022464999999999957	D;D	0.61697	0.99;0.99	P;P	0.53549	0.729;0.729	T	0.06058	-1.0848	9	0.48119	T	0.1	-0.1448	9.9115	0.41408	0.0:0.9082:0.0:0.0918	rs10441685	215;242	F8W8S5;Q8WV48	.;CC107_HUMAN	C	242;215	ENSP00000414964:S242C;ENSP00000367665:S215C	ENSP00000367665:S215C	S	+	2	0	CCDC107	35651057	0.014000	0.17966	0.007000	0.13788	0.048000	0.14542	1.958000	0.40402	1.487000	0.48415	0.655000	0.94253	TCC	C|0.929;G|0.071	0.071	strong		0.597	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		G	35661057	C	G	35661057	3	3	22	1	0	0	0	0	1	0	0	0	2742	855	30	4	743	4	CCDC107	9	35661057	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	156	35661057	105552374	5108	10216										
CCDC107	203260	hgsc.bcm.edu	37	chr9	35661088	35661088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcggggactacggagaagGtgcagccaggctgtggcaaa	19	8	0	1	rs10441686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35661088G>A	ENST00000426546.2	+	5	822	c.756G>A	c.(754-756)agG>agA	p.R252R	ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378409.3_Silent_p.R225R|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|ARHGEF39_ENST00000343259.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	252						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TACGGAGAAGGTGCAGCCAGG	0.572													G|||	357	0.0712859	0.1982	0.0216	5008	,	,		19466	0.0139		0.0328	False		,,,				2504	0.0337				p.R252R		Atlas-SNP	.											.	CCDC107	12	.	0			c.G756A						PASS	.	G	,,,,	694,3712	290.7+/-281.1	47,600,1556	63	64	64		675,,,,756	0.4	1	9	dbSNP_119	64	229,8371	93.8+/-155.7	2,225,4073	no	coding-synonymous,utr-3,utr-3,utr-3,coding-synonymous	C9orf100,CCDC107	NM_001195200.1,NM_001195201.1,NM_001195217.1,NM_032818.2,NM_174923.2	,,,,	49,825,5629	AA,AG,GG		2.6628,15.7512,7.0967	,,,,	225/257,,,,252/284	35661088	923,12083	2203	4300	6503	SO:0001819	synonymous_variant	203260	exon5			GAGAAGGTGCAGC	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.756G>A	9.37:g.35661088G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	64	0.477612	NM_174923	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Silent	SNP	ENST00000426546.2	37	CCDS6583.1																																																																																			G|0.925;A|0.075	0.075	strong		0.572	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		A	35661088	G	A	35661088	2	1	22	1	0	0	0	0	0	0	0	1	2742	1252	44	2		2	CCDC107	9	35661088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31	35661088	105552343	5109	10217										
C9orf100	84904	hgsc.bcm.edu	37	chr9	35665153	35665153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggcaccgcgaaccggggCaggagagctccatgccctgg	16	15	0	1	rs45567235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35665153C>A	ENST00000378387.3	-	1	131	c.14G>T	c.(13-15)tGc>tTc	p.C5F	ARHGEF39_ENST00000378395.2_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.C5F	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	5			C -> F (in dbSNP:rs45567235).		positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										CGAACCGGGGCAGGAGAGCTC	0.711													C|||	343	0.0684904	0.0991	0.0648	5008	,	,		14392	0.0278		0.0924	False		,,,				2504	0.047				p.C5F		Atlas-SNP	.											.	.	.	.	0			c.G14T						PASS	.	C	PHE/CYS	403,3887		8,387,1750	6	8	7		14	-1.6	0	9	dbSNP_127	7	802,7598		36,730,3434	yes	missense	C9orf100	NM_032818.2	205	44,1117,5184	AA,AC,CC		9.5476,9.3939,9.4957	benign	5/336	35665153	1205,11485	2145	4200	6345	SO:0001583	missense	84904	exon1			CCGGGGCAGGAGA	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.14G>T	9.37:g.35665153C>A	ENSP00000367638:p.Cys5Phe	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	74	33	0.445946	NM_032818	Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	CCDS6584.2	159	0.07280219780219781	47	0.09552845528455285	21	0.058011049723756904	16	0.027972027972027972	75	0.09894459102902374	C	4.235	0.042612	0.08196	0.093939	0.095476	ENSG00000137135	ENST00000378387;ENST00000343259	T;T	0.72835	-0.69;1.93	5.34	-1.63	0.08345	Dbl homology (DH) domain (1);	0.709155	0.14661	N	0.305961	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.02121	-1.1210	10	0.46703	T	0.11	-19.2451	6.681	0.23119	0.0:0.4122:0.3454:0.2424	rs45567235;rs61752948	5;5	B4E0T1;Q8N4T4	.;CI100_HUMAN	F	5	ENSP00000367638:C5F;ENSP00000344922:C5F	ENSP00000344922:C5F	C	-	2	0	C9orf100	35655153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-0.641000	0.05487	-0.813000	0.03139	TGC	C|0.927;A|0.073	0.073	strong		0.711	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		A	35665153	C	A	35665153	3	1	22	1	0	0	0	0	1	0	0	0	2444	710	25	4	1029	4	C9orf100	9	35665153	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4065	35665153	105548278	5110	10218										
CA9	768	hgsc.bcm.edu	37	chr9	35674101	35674101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgcaggaggattcccccTtgggaggaggctcttctggg	17	9	2	0	rs113003874|rs12553173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35674101T>C	ENST00000378357.4	+	1	249	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	49	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)	GGATTCCCCCTTGGGAGGAGG	0.627													C|||	1032	0.20607	0.4251	0.1037	5008	,	,		18753	0.1726		0.1362	False		,,,				2504	0.089				p.L49L		Atlas-SNP	.											.	CA9	48	.	0			c.T145C						PASS	.	C		1627,2779	650.2+/-399.0	314,999,890	53	51	51		145	-7.4	0	9	dbSNP_120	51	1138,7462	759.5+/-407.6	81,976,3243	no	coding-synonymous	CA9	NM_001216.2		395,1975,4133	CC,CT,TT		13.2326,36.9269,21.2594		49/460	35674101	2765,10241	2203	4300	6503	SO:0001819	synonymous_variant	768	exon1			TCCCCCTTGGGAG	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.145T>C	9.37:g.35674101T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_001216	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																			T|0.791;C|0.209	0.209	strong		0.627	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		C	35674101	T	C	35674101	2	2	22	1	0	0	0	0	0	0	0	1	2524	1606	56	3		3	CA9	9	35674101	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8948	35674101	105539330	5111	10219										
TLN1	7094	hgsc.bcm.edu	37	chr9	35714269	35714269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccggagttcagccagcgcGgtgcccaggttcttggcaca	14	13	2	0	rs35844106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35714269G>A	ENST00000314888.9	-	24	3440	c.3087C>T	c.(3085-3087)acC>acT	p.T1029T	TLN1_ENST00000540444.1_Silent_p.T1029T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1029					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCCAGCGCGGTGCCCAGGT	0.582													G|||	22	0.00439297	0.0166	0.0	5008	,	,		21795	0.0		0.0	False		,,,				2504	0.0				p.T1029T		Atlas-SNP	.											.	TLN1	185	.	0			c.C3087T						PASS	.	G		63,4343	58.1+/-94.6	0,63,2140	58	55	56		3087	-11.8	0	9	dbSNP_126	56	0,8600		0,0,4300	yes	coding-synonymous	TLN1	NM_006289.3		0,63,6440	AA,AG,GG		0.0,1.4299,0.4844		1029/2542	35714269	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	7094	exon24			CAGCGCGGTGCCC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3087C>T	9.37:g.35714269G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			G|0.995;A|0.005	0.005	strong		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35714269	G	A	35714269	2	1	22	1	0	0	0	0	0	0	0	1	15944	1103	39	1		1	TLN1	9	35714269	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40168	35714269	105499162	5112	10220										
RGP1	57704	hgsc.bcm.edu	37	chr9	35749845	35749845	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgtcaccaacccccttccGcccacggccacttctgcatc	5	22	2	0	rs2236288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35749845G>C	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Silent_p.P31P|RGP1_ENST00000456972.2_Silent_p.P71P|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCCCTTCCGCCCACGGCCA	0.602													C|||	1579	0.315296	0.4811	0.232	5008	,	,		17770	0.4018		0.2127	False		,,,				2504	0.1667				p.P31P		Atlas-SNP	.											.	RGP1	60	.	0			c.G93C						PASS	.	C		1713,2251		386,941,655	51	55	54		93	0.4	0.7	9	dbSNP_98	54	1743,6575		184,1375,2600	no	coding-synonymous	RGP1	NM_001080496.2		570,2316,3255	CC,CG,GG		20.9546,43.2139,28.1387		31/392	35749845	3456,8826	1982	4159	6141	SO:0001631	upstream_gene_variant	9827	exon2			CCTTCCGCCCACG	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749845G>C	Exception_encountered	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	124	68	0.548387	NM_001080496	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																			G|0.688;C|0.312	0.312	strong		0.602	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		C	35749845	G	C	35749845	1	2	22	0	1	0	0	0	0	0	0	0	13284	1074	38	4		4	RGP1	9	35749845	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35576	35749845	105463586	5113	10221										
MSMP	692094	hgsc.bcm.edu	37	chr9	35754052	35754052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgctggaggagtagagaCatcaccaagcagatgatccc	14	9	1	3	rs189235807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35754052C>T	ENST00000436428.2	-	1	214	c.75G>A	c.(73-75)atG>atA	p.M25I	RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_Intron|RP11-112J3.15_ENST00000425499.2_RNA	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	25						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGAGTAGAGACATCACCAAGC	0.577													C|||	11	0.00219649	0.0076	0.0	5008	,	,		19648	0.0		0.0	False		,,,				2504	0.001				p.M25I		Atlas-SNP	.											.	MSMP	15	.	0			c.G75A						PASS	.	C	ILE/MET	14,4138		0,14,2062	158	168	165		75	-7.9	0.5	9		165	0,8454		0,0,4227	yes	missense	MSMP	NM_001044264.2	10	0,14,6289	TT,TC,CC		0.0,0.3372,0.1111	benign	25/140	35754052	14,12592	2076	4227	6303	SO:0001583	missense	692094	exon1			TAGAGACATCACC	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.75G>A	9.37:g.35754052C>T	ENSP00000419194:p.Met25Ile	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	139	63	0.453237	NM_001044264		Missense_Mutation	SNP	ENST00000436428.2	37	CCDS43797.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.661	0.900498	0.17686	0.003372	0.0	ENSG00000215183	ENST00000436428	T	0.40476	1.03	5.92	-7.93	0.01156	.	1.391910	0.05859	N	0.622637	T	0.12050	0.0293	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	10	0.08599	T;T	0.76;0.76	.	4.3929	0.11350	0.1292:0.1236:0.4683:0.2788	.	25	Q1L6U9	MSMP_HUMAN	I	25	ENSP00000419194:M25I	ENSP00000419194:M25I;ENSP00000419194:M25I	M	-	3	0	MSMP	35744052	0.000000	0.05858	0.494000	0.27515	0.988000	0.76386	-3.267000	0.00533	-0.951000	0.03654	-0.140000	0.14226	ATG	C|1.000;T|0.000	0.000	strong		0.577	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		T	35754052	C	T	35754052	3	4	22	1	0	0	0	0	1	0	0	0	9884	478	17	2	356	2	MSMP	9	35754052	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4207	35754052	105459379	5114	10222										
NPR2	4882	hgsc.bcm.edu	37	chr9	35792423	35792423	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatggcgctgccatcactTctgctgttggtggcagccct	11	15	2	0	rs2228580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35792423T>C	ENST00000342694.2	+	1	273	c.18T>C	c.(16-18)ctT>ctC	p.L6L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	6					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGCCATCACTTCTGCTGTTGG	0.677													C|||	1570	0.313498	0.4985	0.2334	5008	,	,		12482	0.3819		0.2028	False		,,,				2504	0.1636				p.L6L		Atlas-SNP	.											.	NPR2	162	.	0			c.T18C						PASS	.	C		2004,2400		469,1066,667	21	23	22		18	2.2	1	9	dbSNP_98	22	1743,6853		170,1403,2725	no	coding-synonymous	NPR2	NM_003995.3		639,2469,3392	CC,CT,TT		20.2769,45.5041,28.8231		6/1048	35792423	3747,9253	2202	4298	6500	SO:0001819	synonymous_variant	4882	exon1			ATCACTTCTGCTG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.18T>C	9.37:g.35792423T>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	121	121	1	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																			T|0.691;C|0.309	0.309	strong		0.677	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			C	35792423	T	C	35792423	2	2	22	1	0	0	0	0	0	0	0	1	10595	1770	62	2		2	NPR2	9	35792423	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38371	35792423	105421008	5115	10223										
NPR2	4882	hgsc.bcm.edu	37	chr9	35802583	35802583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgcattgtcactgaataCtgtcctcgtgggagtttaca	9	8	1	1	rs5812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35802583C>T	ENST00000342694.2	+	11	2049	c.1794C>T	c.(1792-1794)taC>taT	p.Y598Y		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCACTGAATACTGTCCTCGTG	0.468													T|||	1565	0.3125	0.4962	0.2334	5008	,	,		20745	0.3819		0.2008	False		,,,				2504	0.1636				p.Y598Y		Atlas-SNP	.											.	NPR2	162	.	0			c.C1794T						PASS	.	T		2011,2395	615.3+/-392.5	468,1075,660	111	100	104		1794	3.1	1	9	dbSNP_52	104	1736,6864	736.2+/-407.0	167,1402,2731	no	coding-synonymous	NPR2	NM_003995.3		635,2477,3391	TT,TC,CC		20.186,45.6423,28.8098		598/1048	35802583	3747,9259	2203	4300	6503	SO:0001819	synonymous_variant	4882	exon11			TGAATACTGTCCT	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1794C>T	9.37:g.35802583C>T		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	196	195	0.994898	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																			C|0.695;T|0.305	0.305	strong		0.468	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35802583	C	T	35802583	2	4	22	1	0	0	0	0	0	0	0	1	10595	576	20	2		2	NPR2	9	35802583	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10160	35802583	105410848	5116	10224										
SPAG8	4882	hgsc.bcm.edu	37	chr9	35811215	35811215	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaggaggcactggccccgCggcaaagtttcatagcaaac	12	11	1	1	rs73444820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35811215C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Silent_p.P274P|SPAG8_ENST00000396638.2_Silent_p.P276P|SPAG8_ENST00000479751.1_5'UTR|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Silent_p.P276P	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACTGGCCCCGCGGCAAAGTTT	0.507													c|||	99	0.0197684	0.0734	0.0029	5008	,	,		17255	0.0		0.0	False		,,,				2504	0.0				p.P276P		Atlas-SNP	.											SPAG8_ENST00000396638,caecum,carcinoma,0,2	SPAG8	67	2	0			c.G828A						scavenged	.	C	,	276,4130	148.0+/-182.4	7,262,1934	95	109	104		828,828	0.7	1	9	dbSNP_130	104	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	SPAG8	NM_001039592.1,NM_172312.1	,	7,265,6231	TT,TC,CC		0.0349,6.2642,2.1452	,	276/486,276/502	35811215	279,12727	2203	4300	6503	SO:0001628	intergenic_variant	26206	exon2			GCCCCGCGGCAAA	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811215C>T		Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	100	71	0.71	NM_001039592	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1	26	0.011904761904761904	26	0.052845528455284556	0	0.0	0	0.0	0	0.0	c	6.691	0.496043	0.12762	0.062642	3.49E-4	ENSG00000137098	ENST00000497810	.	.	.	5.65	0.724	0.18236	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05500	-1.0881	4	.	.	.	-7.0172	7.2861	0.26340	0.0:0.4303:0.0:0.5697	.	.	.	.	H	274	.	.	R	-	2	0	SPAG8	35801215	0.477000	0.25909	0.964000	0.40570	0.648000	0.38561	-1.146000	0.03191	0.200000	0.20447	-0.285000	0.09966	CGC	C|0.978;T|0.022	0.022	strong		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35811215	C	T	35811215	1	4	22	0	1	0	0	0	0	0	0	0	14984	755	27	1		1	SPAG8	9	35811215	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8632	35811215	105402216	5117	10225										
SPAG8	4882	hgsc.bcm.edu	37	chr9	35811486	35811497	+	IGR	DEL	CCAGGACCAGAG	CCAGGACCAGAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagagccagagccatgaCcaggaccagagccaggacca					rs59748329|rs555852229|rs141090907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCAGGACCAGAG	CCAGGACCAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35811486_35811497delCCAGGACCAGAG	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_In_Frame_Del_p.180_184GSGPG>G|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000396638.2_In_Frame_Del_p.182_186GSGPG>G|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_In_Frame_Del_p.182_186GSGPG>G	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S183C(2)|p.S183_G186delSGPG(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	agagccatgaccaggaccagagccaggaccag	0.637														1567	0.312899	0.4985	0.2334	5008	,	,		13915	0.379		0.2008	False		,,,				2504	0.1656				p.183_186del		Pindel,Atlas-Indel	.											.	SPAG8	67	.	3	Substitution - Missense(2)|Deletion - In frame(1)	prostate(2)|upper_aerodigestive_tract(1)	c.547_558del						PASS	.		,	1872,2386		432,1008,689					,	-8.9	0		dbSNP_132	42	1635,6615		166,1303,2656	no	coding,coding	SPAG8	NM_172312.1,NM_001039592.1	,	598,2311,3345	A1A1,A1R,RR		19.8182,43.9643,28.0381	,	,		3507,9001				SO:0001628	intergenic_variant	26206	exon2			.	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811486_35811497delCCAGGACCAGAG		Somatic	53	.	.		WXS	Illumina HiSeq	Phase_I	46	29	0.63	NM_172312	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL	ENST00000342694.2	37	CCDS6590.1																																																																																			CCAGGACCAGAG|0.500;-|0.500	0.500	weak		0.637	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			-	35811497	CCAGGACCAGAG	-	35811486	6	5	22	0	1	1	0	1	0	0	0	0	14984	507	18	0		0	SPAG8	9	35811486	IGR	DEL	CCAGGACCAGAG	TCGA-G8-6324-01A-11D-2210-10	271	35811486	105401945	5118	10226										
SPAG8	4882	hgsc.bcm.edu	37	chr9	35811749	35811749	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgggtaaagccgggtccCgcacagggctccccaagaag	14	12	0	1	rs79261709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35811749C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Silent_p.A96A|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000396638.2_Silent_p.A98A|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Silent_p.A98A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCCGGGTCCCGCACAGGGCT	0.547													c|||	68	0.0135783	0.0492	0.0043	5008	,	,		17978	0.0		0.0	False		,,,				2504	0.0				p.A98A		Atlas-SNP	.											.	SPAG8	67	.	0			c.G294A						PASS	.	C	,	184,4222	115.0+/-153.0	2,180,2021	56	68	64		294,294	-2.2	0	9	dbSNP_131	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPAG8	NM_001039592.1,NM_172312.1	,	2,180,6321	TT,TC,CC		0.0,4.1761,1.4147	,	98/486,98/502	35811749	184,12822	2203	4300	6503	SO:0001628	intergenic_variant	26206	exon2			GGGTCCCGCACAG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811749C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_001039592	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	c	5.786	0.329334	0.10956	0.041761	0.0	ENSG00000137098	ENST00000497810	.	.	.	5.3	-2.21	0.06973	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20538	-1.0272	4	.	.	.	3.7726	0.3647	0.00370	0.3138:0.2293:0.2557:0.2013	.	.	.	.	Q	96	.	.	R	-	2	0	SPAG8	35801749	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.424000	0.07025	-0.264000	0.09365	-0.710000	0.03640	CGG	C|0.988;T|0.012	0.012	strong		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35811749	C	T	35811749	1	4	22	0	1	0	0	0	0	0	0	0	14984	639	23	1		1	SPAG8	9	35811749	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	263	35811749	105401682	5119	10227										
C9orf128	392307	hgsc.bcm.edu	37	chr9	35826038	35826038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctcagaggtggaaggctTcaagaagctttcagagatat	13	6	3	3	rs13294245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35826038T>C	ENST00000423537.2	-	2	390	c.121A>G	c.(121-123)Aag>Gag	p.K41E	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	41			K -> E (in dbSNP:rs13294245). {ECO:0000269|PubMed:15489334}.							endometrium(2)|kidney(1)|lung(4)	7						GTGGAAGGCTTCAAGAAGCTT	0.537											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1203	0.240216	0.2474	0.2017	5008	,	,		20084	0.375		0.2008	False		,,,				2504	0.1595				p.K41E		Atlas-SNP	.											.	FAM221B	38	.	0			c.A121G						PASS	.		GLU/LYS	894,2904		111,672,1116	81	83	82		121	1.9	0	9	dbSNP_121	82	1590,6608		150,1290,2659	yes	missense	C9orf128	NM_001012446.2	56	261,1962,3775	CC,CT,TT		19.395,23.5387,20.7069	benign	41/403	35826038	2484,9512	1899	4099	5998	SO:0001583	missense	392307	exon2			AAGGCTTCAAGAA	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.121A>G	9.37:g.35826038T>C	ENSP00000415299:p.Lys41Glu	Somatic	118	0	0	858	WXS	Illumina HiSeq	Phase_I	102	40	0.392157	NM_001012446	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	572	0.2619047619047619	126	0.25609756097560976	82	0.2265193370165746	220	0.38461538461538464	144	0.18997361477572558	c	9.080	0.999048	0.19121	0.235387	0.19395	ENSG00000204930	ENST00000423537;ENST00000377984;ENST00000472182	T;T;T	0.26373	2.84;2.56;1.74	3.8	1.91	0.25777	.	0.511663	0.16358	N	0.217901	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	9	0.02654	T	1	.	4.0585	0.09827	0.0:0.5692:0.2061:0.2248	rs13294245	41	A6H8Z2	CI128_HUMAN	E	41	ENSP00000415299:K41E;ENSP00000367222:K41E;ENSP00000420279:K41E	ENSP00000367222:K41E	K	-	1	0	C9orf128	35816038	0.001000	0.12720	0.019000	0.16419	0.374000	0.29953	-0.007000	0.12810	0.201000	0.20466	-0.779000	0.03376	AAG	T|0.758;C|0.242	0.242	strong		0.537	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		C	35826038	T	C	35826038	3	2	22	1	0	0	0	0	1	0	0	0	2455	1792	62	2	1111	2	C9orf128	9	35826038	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14289	35826038	105387393	5120	10228										
C9orf128	392307	hgsc.bcm.edu	37	chr9	35826058	35826058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagaagctttcagagataTggttctcctgtaagtcctca	8	9	4	2	rs13294256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35826058T>C	ENST00000423537.2	-	2	370	c.101A>G	c.(100-102)cAt>cGt	p.H34R	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	34			H -> R (in dbSNP:rs13294256). {ECO:0000269|PubMed:15489334}.							endometrium(2)|kidney(1)|lung(4)	7						TTCAGAGATATGGTTCTCCTG	0.517											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	1148	0.229233	0.208	0.1988	5008	,	,		20257	0.375		0.1998	False		,,,				2504	0.1595				p.H34R		Atlas-SNP	.											.	FAM221B	38	.	0			c.A101G						PASS	.		ARG/HIS	731,3079		78,575,1252	75	76	76		101	-4.1	0	9	dbSNP_121	76	1570,6650		146,1278,2686	yes	missense	C9orf128	NM_001012446.2	29	224,1853,3938	CC,CT,TT		19.0998,19.1864,19.1272	benign	34/403	35826058	2301,9729	1905	4110	6015	SO:0001583	missense	392307	exon2			GAGATATGGTTCT	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.101A>G	9.37:g.35826058T>C	ENSP00000415299:p.His34Arg	Somatic	114	0	0	858	WXS	Illumina HiSeq	Phase_I	97	39	0.402062	NM_001012446	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	551	0.2522893772893773	105	0.21341463414634146	82	0.2265193370165746	220	0.38461538461538464	144	0.18997361477572558	t	5.958	0.360791	0.11296	0.191864	0.190998	ENSG00000204930	ENST00000423537;ENST00000377984;ENST00000472182	T;T;T	0.29397	2.6;2.33;1.57	3.8	-4.13	0.03904	.	1.108070	0.06941	N	0.812752	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42732	-0.9434	9	0.08381	T	0.77	-20.1312	1.2171	0.01916	0.2466:0.1181:0.1707:0.4646	rs13294256;rs59381554	34	A6H8Z2	CI128_HUMAN	R	34	ENSP00000415299:H34R;ENSP00000367222:H34R;ENSP00000420279:H34R	ENSP00000367222:H34R	H	-	2	0	C9orf128	35816058	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-3.012000	0.00647	-1.431000	0.01982	-2.108000	0.00357	CAT	T|0.764;C|0.236	0.236	strong		0.517	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		C	35826058	T	C	35826058	3	2	22	1	0	0	0	0	1	0	0	0	2455	1464	51	2	1131	2	C9orf128	9	35826058	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20	35826058	105387373	5121	10229										
TMEM8B	51754	hgsc.bcm.edu	37	chr9	35842480	35842480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagccactgcccccagaAccgccatcccttggaacccc	6	21	0	1	rs7037450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35842480A>G	ENST00000377991.4	+	7	1060	c.45A>G	c.(43-45)gaA>gaG	p.E15E	TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377996.1_Silent_p.E15E|TMEM8B_ENST00000439587.2_Silent_p.E15E|TMEM8B_ENST00000377988.2_Silent_p.E15E	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	15					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TGCCCCCAGAACCGCCATCCC	0.701													G|||	154	0.0307508	0.1089	0.0101	5008	,	,		17224	0.0		0.003	False		,,,				2504	0.0				p.E15E		Atlas-SNP	.											.	TMEM8B	53	.	0			c.A45G						PASS	.	G	,,	474,3932	759.4+/-412.9	36,402,1765	32	33	32		45,45,45	4.8	1	9	dbSNP_116	32	21,8577	804.0+/-407.3	0,21,4278	no	coding-synonymous,coding-synonymous,coding-synonymous	TMEM8B	NM_001042589.1,NM_001042590.1,NM_016446.3	,,	36,423,6043	GG,GA,AA		0.2442,10.7581,3.8065	,,	15/473,15/473,15/339	35842480	495,12509	2203	4299	6502	SO:0001819	synonymous_variant	51754	exon6			CCCAGAACCGCCA	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.45A>G	9.37:g.35842480A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	105	52	0.495238	NM_001042590	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	CCDS43800.1																																																																																			A|0.962;G|0.038	0.038	strong		0.701	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		G	35842480	A	G	35842480	2	3	22	1	0	0	0	0	0	0	0	1	16212	40	2	2		2	TMEM8B	9	35842480	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16422	35842480	105370951	5122	10230										
TMEM8B	51754	hgsc.bcm.edu	37	chr9	35845998	35845998	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgccaggaaaacgtgacGgtgtttggatgcttgactca	14	8	1	2	rs34807292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35845998G>C	ENST00000377991.4	+	8	1321	c.306G>C	c.(304-306)acG>acC	p.T102T	TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377996.1_Silent_p.T102T|TMEM8B_ENST00000439587.2_Silent_p.T102T|TMEM8B_ENST00000377988.2_Silent_p.T102T	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	102					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AAAACGTGACGGTGTTTGGAT	0.617													G|||	127	0.0253594	0.0908	0.0072	5008	,	,		16083	0.0		0.002	False		,,,				2504	0.0				p.T102T		Atlas-SNP	.											.	TMEM8B	53	.	0			c.G306C						PASS	.	G	,,	386,4020	191.9+/-217.4	17,352,1834	114	95	102		306,306,306	-2.7	1	9	dbSNP_126	102	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TMEM8B	NM_001042589.1,NM_001042590.1,NM_016446.3	,,	17,353,6133	CC,CG,GG		0.0116,8.7608,2.9755	,,	102/473,102/473,102/339	35845998	387,12619	2203	4300	6503	SO:0001819	synonymous_variant	51754	exon7			CGTGACGGTGTTT	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.306G>C	9.37:g.35845998G>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_001042590	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	CCDS43800.1																																																																																			G|0.969;C|0.031	0.031	strong		0.617	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		C	35845998	G	C	35845998	2	2	22	1	0	0	0	0	0	0	0	1	16212	1103	39	4		4	TMEM8B	9	35845998	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3518	35845998	105367433	5123	10231										
HRCT1	646962	hgsc.bcm.edu	37	chr9	35906601	35906601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccaccaccaccaccaccCccaccgccaccatccccgcc	2	29	0	0	rs565823201|rs112212538		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35906601C>A	ENST00000354323.2	+	1	413	c.317C>A	c.(316-318)cCc>cAc	p.P106H	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	106	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccacccccaccgccac	0.677																																					p.P106H		Atlas-SNP	.											.	HRCT1	14	.	0			c.C317A						PASS	.						6	6	6					9																	35906601		1795	3578	5373	SO:0001583	missense	646962	exon1			ACCACCCCCACCG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.317C>A	9.37:g.35906601C>A	ENSP00000346283:p.Pro106His	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	36	22	0.611111	NM_001039792	B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	CCDS35012.1	337	0.1543040293040293	82	0.16666666666666666	47	0.1298342541436464	45	0.07867132867132867	163	0.21503957783641162	C	1.568	-0.535019	0.04082	.	.	ENSG00000196196	ENST00000354323	.	.	.	0.571	-1.14	0.09741	.	2.262810	0.02394	N	0.080002	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	P	0.36944	0.574	B	0.32465	0.146	T	0.09751	-1.0660	7	0.87932	D	0	-19.8215	.	.	.	.	106	Q6UXD1	HRCT1_HUMAN	H	106	.	ENSP00000346283:P106H	P	+	2	0	HRCT1	35896601	0.000000	0.05858	0.011000	0.14972	0.341000	0.28922	-0.113000	0.10774	-1.188000	0.02705	-0.718000	0.03613	CCC	C|0.846;A|0.154	0.154	strong		0.677	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		A	35906601	C	A	35906601	3	1	22	1	0	0	0	0	1	0	0	0	7353	623	22	4	319	4	HRCT1	9	35906601	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60603	35906601	105306830	5124	10232										
OR2S2	56656	hgsc.bcm.edu	37	chr9	35957728	35957728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttgcagatggccacatagCgatcaaatgccatcatgctc	10	11	2	1	rs2233563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:35957728C>T	ENST00000341959.2	-	1	423	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	123			R -> H (in dbSNP:rs2233563).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCACATAGCGATCAAATGC	0.557													C|||	122	0.024361	0.0915	0.0014	5008	,	,		24963	0.0		0.0	False		,,,				2504	0.0				p.R123H	Pancreas(172;293 2036 17878 24427 30946)	Atlas-SNP	.											.	OR2S2	46	.	0			c.G368A						PASS	.	C	HIS/ARG	351,4055	182.9+/-210.6	14,323,1866	94	80	85		368	0.8	0.2	9	dbSNP_98	85	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2S2	NM_019897.2	29	14,326,6163	TT,TC,CC		0.0349,7.9664,2.7218	possibly-damaging	123/320	35957728	354,12652	2203	4300	6503	SO:0001583	missense	56656	exon1			ACATAGCGATCAA	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.368G>A	9.37:g.35957728C>T	ENSP00000344040:p.Arg123His	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	100	57	0.57	NM_019897	Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	CCDS6596.2	45	0.020604395604395604	45	0.09146341463414634	0	0.0	0	0.0	0	0.0	C	10.24	1.295956	0.23650	0.079664	3.49E-4	ENSG00000122718	ENST00000341959	T	0.77489	-1.1	4.32	0.775	0.18527	GPCR, rhodopsin-like superfamily (1);	0.388525	0.22144	N	0.064012	T	0.11110	0.0271	M	0.88310	2.945	0.25060	N	0.991077	P	0.47034	0.889	B	0.36504	0.226	T	0.48747	-0.9008	10	0.72032	D	0.01	.	8.045	0.30545	0.0:0.6808:0.0:0.3192	rs2233563;rs2233563	123	Q9NQN1	OR2S1_HUMAN	H	123	ENSP00000344040:R123H	ENSP00000344040:R123H	R	-	2	0	OR2S2	35947728	0.990000	0.36364	0.195000	0.23364	0.101000	0.19017	1.416000	0.34759	0.125000	0.18397	0.655000	0.94253	CGC	C|0.975;T|0.025	0.025	strong		0.557	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		T	35957728	C	T	35957728	3	4	22	1	0	0	0	0	1	0	0	0	11015	768	27	1	595	1	OR2S2	9	35957728	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51127	35957728	105255703	5125	10233										
CLTA	1211	hgsc.bcm.edu	37	chr9	36197564	36197564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagatgctgttgatggagtAatgaatggtgaatactacca	12	5	0	4	rs138682143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:36197564A>G	ENST00000242285.6	+	2	354	c.234A>G	c.(232-234)gtA>gtG	p.V78V	CLTA_ENST00000470744.1_Silent_p.V78V|CLTA_ENST00000396603.2_Silent_p.V78V|CLTA_ENST00000538225.1_Silent_p.V78V|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000433436.2_Silent_p.V78V|CLTA_ENST00000345519.5_Silent_p.V78V			P09496	CLCA_HUMAN	clathrin, light chain A	78					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)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TTGATGGAGTAATGAATGGTG	0.383																																					p.V78V		Atlas-SNP	.											.	CLTA	18	.	0			c.A234G						PASS	.	A	,,,,,	10,4396	16.8+/-37.8	0,10,2193	254	237	243		234,234,234,,234,234	0.6	1	9	dbSNP_134	243	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	CLTA	NM_001076677.2,NM_001184760.1,NM_001184761.1,NM_001184762.1,NM_001833.3,NM_007096.3	,,,,,	0,10,6493	GG,GA,AA		0.0,0.227,0.0769	,,,,,	78/237,78/231,78/169,,78/219,78/249	36197564	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	1211	exon2			TGGAGTAATGAAT		CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.234A>G	9.37:g.36197564A>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	189	109	0.57672	NM_001184761	A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Silent	SNP	ENST00000242285.6	37	CCDS6601.1																																																																																			A|0.998;G|0.002	0.002	strong		0.383	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		G	36197564	A	G	36197564	2	3	22	1	0	0	0	0	0	0	0	1	3564	349	13	2		2	CLTA	9	36197564	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	239836	36197564	105015867	5126	10234										
FBXO10	26267	hgsc.bcm.edu	37	chr9	37537892	37537892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccatggacctggatgtGcccgttctcaaagttgcagt	13	11	1	0	rs7044561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:37537892G>T	ENST00000432825.2	-	3	682	c.634C>A	c.(634-636)Cac>Aac	p.H212N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	212			H -> N (found in a patient with lymphoma; dbSNP:rs7044561). {ECO:0000269|PubMed:23431138}.		apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCTGGATGTGCCCGTTCTCA	0.488													G|||	76	0.0151757	0.0575	0.0	5008	,	,		21854	0.0		0.0	False		,,,				2504	0.0				p.H212N		Atlas-SNP	.											.	FBXO10	75	.	0			c.C634A						PASS	.	G	ASN/HIS	171,3729		8,155,1787	85	85	85		634	5.3	1	9	dbSNP_116	85	5,8263		0,5,4129	yes	missense	FBXO10	NM_012166.2	68	8,160,5916	TT,TG,GG		0.0605,4.3846,1.4464	benign	212/957	37537892	176,11992	1950	4134	6084	SO:0001583	missense	26267	exon3			GGATGTGCCCGTT	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.634C>A	9.37:g.37537892G>T	ENSP00000403802:p.His212Asn	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	149	75	0.503356	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	G	16.84	3.233921	0.58886	0.043846	6.05E-4	ENSG00000147912	ENST00000432825	T	0.40756	1.02	5.3	5.3	0.74995	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.054328	0.85682	D	0.000000	T	0.06462	0.0166	N	0.14661	0.345	0.80722	D	1	B	0.25105	0.118	B	0.23852	0.049	T	0.05484	-1.0882	10	0.02654	T	1	-29.9635	18.0885	0.89466	0.0:0.0:1.0:0.0	rs7044561;rs52804171;rs7044561	212	Q9UK96	FBX10_HUMAN	N	212	ENSP00000403802:H212N	ENSP00000276960:H212N	H	-	1	0	FBXO10	37527892	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.345000	0.97053	2.631000	0.89168	0.655000	0.94253	CAC	G|0.983;T|0.017	0.017	strong		0.488	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			T	37537892	G	T	37537892	3	4	22	1	0	0	0	0	1	0	0	0	5726	1319	46	4	2272	4	FBXO10	9	37537892	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1340328	37537892	103675539	5127	10235										
FRMPD1	22844	hgsc.bcm.edu	37	chr9	37731007	37731007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagggaggagtcacatgaCtaccgctgcctcttcagggt	13	10	3	1	rs2274324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:37731007C>T	ENST00000539465.1	+	9	1358	c.765C>T	c.(763-765)gaC>gaT	p.D255D	FRMPD1_ENST00000541302.1_Silent_p.D124D|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.D255D|FRMPD1_ENST00000536622.1_Silent_p.D77D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	255	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		AGTCACATGACTACCGCTGCC	0.507													C|||	441	0.0880591	0.0688	0.0821	5008	,	,		19066	0.1885		0.0239	False		,,,				2504	0.0808				p.D255D		Atlas-SNP	.											.	FRMPD1	237	.	0			c.C765T						PASS	.	C		257,4149	149.9+/-184.0	7,243,1953	103	96	98		765	5.6	1	9	dbSNP_100	98	217,8383	92.8+/-154.8	1,215,4084	yes	coding-synonymous	FRMPD1	NM_014907.2		8,458,6037	TT,TC,CC		2.5233,5.833,3.6445		255/1579	37731007	474,12532	2203	4300	6503	SO:0001819	synonymous_variant	22844	exon9			ACATGACTACCGC	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.765C>T	9.37:g.37731007C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	132	81	0.613636	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																			C|0.942;T|0.058	0.058	strong		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37731007	C	T	37731007	2	4	22	1	0	0	0	0	0	0	0	1	6057	564	20	2		2	FRMPD1	9	37731007	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193115	37731007	103482424	5128	10236										
FRMPD1	22844	hgsc.bcm.edu	37	chr9	37745562	37745562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagatcccaccacatccccCtagagaccctcaaggacaga	7	17	1	3	rs62640016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:37745562C>T	ENST00000539465.1	+	16	4126	c.3533C>T	c.(3532-3534)cCt>cTt	p.P1178L	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1178L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1178						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.P1178H(1)		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)		CCACATCCCCCTAGAGACCCT	0.483													C|||	81	0.0161741	0.0605	0.0014	5008	,	,		19697	0.0		0.0	False		,,,				2504	0.0				p.P1178L		Atlas-SNP	.											FRMPD1,scalp,carcinoma,+1,1	FRMPD1	237	1	1	Substitution - Missense(1)	lung(1)	c.C3533T						PASS	.	C	LEU/PRO	164,4242	104.7+/-143.2	3,158,2042	52	55	54		3533	3.2	0	9	dbSNP_129	54	0,8598		0,0,4299	yes	missense	FRMPD1	NM_014907.2	98	3,158,6341	TT,TC,CC		0.0,3.7222,1.2612	possibly-damaging	1178/1579	37745562	164,12840	2203	4299	6502	SO:0001583	missense	22844	exon16			ATCCCCCTAGAGA	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.3533C>T	9.37:g.37745562C>T	ENSP00000444411:p.Pro1178Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	C	11.39	1.625940	0.28889	0.037222	0.0	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	4.24	3.24	0.37175	.	1.039780	0.07531	N	0.912167	T	0.00998	0.0033	N	0.24115	0.695	0.19300	N	0.999977	B	0.06786	0.001	B	0.04013	0.001	T	0.15925	-1.0420	10	0.56958	D	0.05	-9.9948	8.5566	0.33485	0.2299:0.7701:0.0:0.0	rs62640016	1178	Q5SYB0	FRPD1_HUMAN	L	1178	ENSP00000366995:P1178L;ENSP00000444411:P1178L	ENSP00000366995:P1178L	P	+	2	0	FRMPD1	37735562	0.005000	0.15991	0.037000	0.18230	0.034000	0.12701	1.541000	0.36126	2.298000	0.77334	0.561000	0.74099	CCT	C|0.986;T|0.014	0.014	strong		0.483	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37745562	C	T	37745562	3	4	22	1	0	0	0	0	1	0	0	0	6057	681	24	2	3591	2	FRMPD1	9	37745562	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14555	37745562	103467869	5129	10237										
ALDH1B1	219	hgsc.bcm.edu	37	chr9	38395928	38395928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgacggtcaaccctaccacCggggaggtcattgggcacgt	13	14	2	0	rs2073477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:38395928C>T	ENST00000377698.3	+	2	336	c.183C>T	c.(181-183)acC>acT	p.T61T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	61					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ACCCTACCACCGGGGAGGTCA	0.602													C|||	1341	0.267772	0.2292	0.2968	5008	,	,		19392	0.3899		0.1372	False		,,,				2504	0.3078				p.T61T		Atlas-SNP	.											ALDH1B1,NS,carcinoma,0,1	ALDH1B1	50	1	0			c.C183T						PASS	.	C		1057,3349	387.2+/-326.4	130,797,1276	90	85	87		183	-11.6	0	9	dbSNP_96	87	1092,7508	228.3+/-263.4	75,942,3283	no	coding-synonymous	ALDH1B1	NM_000692.4		205,1739,4559	TT,TC,CC		12.6977,23.99,16.5231		61/518	38395928	2149,10857	2203	4300	6503	SO:0001819	synonymous_variant	219	exon2			TACCACCGGGGAG	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.183C>T	9.37:g.38395928C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	58	31	0.534483	NM_000692	B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	CCDS6615.1																																																																																			C|0.796;T|0.204	0.204	strong		0.602	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38395928	C	T	38395928	2	4	22	1	0	0	0	0	0	0	0	1	493	639	23	1		1	ALDH1B1	9	38395928	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	650366	38395928	102817503	5130	10238										
ALDH1B1	219	hgsc.bcm.edu	37	chr9	38396002	38396002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgaaagcagcccgggaagCcttccgcctggggtccccat	13	15	0	1	rs2228093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:38396002C>T	ENST00000377698.3	+	2	410	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	86			A -> V (in allele ALDHA1B1*2; dbSNP:rs2228093). {ECO:0000269|PubMed:8244338}.		carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GCCCGGGAAGCCTTCCGCCTG	0.667													C|||	1154	0.230431	0.0809	0.2853	5008	,	,		17003	0.3929		0.1511	False		,,,				2504	0.3078				p.A86V		Atlas-SNP	.											ALDH1B1,NS,carcinoma,+1,1	ALDH1B1	50	1	0			c.C257T						PASS	.	C	VAL/ALA	472,3934	222.6+/-239.4	27,418,1758	64	68	67		257	5.5	1	9	dbSNP_98	67	1143,7457	235.1+/-267.8	82,979,3239	yes	missense	ALDH1B1	NM_000692.4	64	109,1397,4997	TT,TC,CC		13.2907,10.7127,12.4173	probably-damaging	86/518	38396002	1615,11391	2203	4300	6503	SO:0001583	missense	219	exon2			GGGAAGCCTTCCG	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.257C>T	9.37:g.38396002C>T	ENSP00000366927:p.Ala86Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	487	0.222985347985348	53	0.10772357723577236	92	0.2541436464088398	226	0.3951048951048951	116	0.15303430079155672	C	27.7	4.856835	0.91433	0.107127	0.132907	ENSG00000137124	ENST00000377698	T	0.26518	1.73	5.51	5.51	0.81932	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000010	T	0.00012	0.0000	M	0.89904	3.07	0.09310	P	0.999999663107	D	0.89917	1.0	D	0.83275	0.996	T	0.24764	-1.0151	9	0.87932	D	0	.	16.9009	0.86113	0.0:1.0:0.0:0.0	rs2228093;rs2228093	86	P30837	AL1B1_HUMAN	V	86	ENSP00000366927:A86V	ENSP00000366927:A86V	A	+	2	0	ALDH1B1	38386002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.201000	0.77847	2.598000	0.87819	0.650000	0.86243	GCC	C|0.831;A|0.001	.	strong		0.667	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38396002	C	T	38396002	3	4	22	1	0	0	0	0	1	0	0	0	493	739	26	2	259	2	ALDH1B1	9	38396002	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74	38396002	102817429	5131	10239										
FAM75A3	727830	hgsc.bcm.edu	37	chr9	40702846	40702846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaggatctggcctccaCcccatcaccaggcccaatga	7	18	3	1	rs200010477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:40702846C>T	ENST00000356699.5	+	4	532	c.503C>T	c.(502-504)aCc>aTc	p.T168I	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	168	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGGCCTCCACCCCATCACCA	0.592																																					p.T168I		Atlas-SNP	.											FAM75A3_ENST00000356699,NS,carcinoma,-1,6	.	.	6	0			c.C503T						scavenged	.						29	32	32					9																	40702846		1192	2948	4140	SO:0001583	missense	727830	exon4			CCTCCACCCCATC			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.503C>T	9.37:g.40702846C>T	ENSP00000349132:p.Thr168Ile	Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	321	80	0.249221	NM_001083124		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507524	0.27036	.	.	ENSG00000147926	ENST00000356699	T	0.05580	3.42	2.04	-3.77	0.04346	.	2.363890	0.02457	N	0.086169	T	0.05044	0.0135	L	0.41415	1.275	0.80722	P	0.0	P	0.37101	0.582	B	0.33339	0.162	T	0.22695	-1.0209	9	0.51188	T	0.08	1.2989	0.8573	0.01185	0.376:0.2856:0.1919:0.1465	.	168	Q5VYP0	F75A3_HUMAN	I	168	ENSP00000349132:T168I	ENSP00000349132:T168I	T	+	2	0	FAM75A3	40692846	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.670000	0.05256	-0.955000	0.03636	-0.714000	0.03626	ACC	.	.	weak		0.592	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		T	40702846	C	T	40702846	3	4	22	1	0	0	0	0	1	0	0	0	5621	507	18	2	517	2	FAM75A3	9	40702846	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2306844	40702846	100510585	5132	10240										
ZNF658	26149	hgsc.bcm.edu	37	chr9	40774091	40774091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaatgaggtgtgctttcCggtaaaaggattttctgcat	12	6	1	2	rs79262629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:40774091C>T	ENST00000602553.1	-	5	1478	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	ZNF658_ENST00000377626.3_Missense_Mutation_p.R395Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.R393Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGTGCTTTCCGGTAAAAGGA	0.393													C|||	70	0.0139776	0.0522	0.0	5008	,	,		20923	0.001		0.0	False		,,,				2504	0.0				p.R395Q		Atlas-SNP	.											ZNF658,lower_third,carcinoma,-1,1	ZNF658	100	1	0			c.G1184A						scavenged	.	C	GLN/ARG	152,4254	103.4+/-141.9	2,148,2053	218	217	218		1184	-0.9	0	9	dbSNP_131	218	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF658	NM_033160.5	43	2,150,6351	TT,TC,CC		0.0233,3.4498,1.1841	benign	395/1060	40774091	154,12852	2203	4300	6503	SO:0001583	missense	26149	exon5			GCTTTCCGGTAAA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1184G>A	9.37:g.40774091C>T	ENSP00000473484:p.Arg395Gln	Somatic	532	2	0.0037594		WXS	Illumina HiSeq	Phase_I	543	183	0.337017	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	c	0.018	-1.473237	0.01044	0.034498	2.33E-4	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.14893	2.47;2.47	1.8	-0.939	0.10408	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00936	0.0031	N	0.01473	-0.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41805	-0.9488	9	0.07990	T	0.79	.	5.7522	0.18152	0.0:0.5247:0.0:0.4753	.	395;395	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	393;395	ENSP00000408462:R393Q;ENSP00000366853:R395Q	ENSP00000366853:R395Q	R	-	2	0	ZNF658	40764091	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.970000	0.03810	-0.174000	0.10743	-0.820000	0.03113	CGG	C|0.990;T|0.010	0.010	strong		0.393	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		T	40774091	C	T	40774091	3	4	22	1	0	0	0	0	1	0	0	0	18066	652	23	1	1999	1	ZNF658	9	40774091	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71245	40774091	100439340	5133	10241										
ZNF658	26149	hgsc.bcm.edu	37	chr9	40784132	40784132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctctggttcaggaattcAtcttctaaagaccatggctc	7	11	5	1	rs142151197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:40784132A>G	ENST00000602553.1	-	4	507	c.213T>C	c.(211-213)gaT>gaC	p.D71D	ZNF658_ENST00000377626.3_Silent_p.D71D|ZNF658_ENST00000441795.1_Silent_p.D69D			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGGAATTCATCTTCTAAAG	0.433													A|||	68	0.0135783	0.0514	0.0	5008	,	,		13262	0.0		0.0	False		,,,				2504	0.0				p.D71D		Atlas-SNP	.											.	ZNF658	100	.	0			c.T213C						PASS	.	A		146,4260	97.1+/-135.8	1,144,2058	32	36	34		213	-3.4	0	9	dbSNP_134	34	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	ZNF658	NM_033160.5		1,146,6353	GG,GA,AA		0.0233,3.3137,1.1385		71/1060	40784132	148,12852	2203	4297	6500	SO:0001819	synonymous_variant	26149	exon4			GAATTCATCTTCT	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.213T>C	9.37:g.40784132A>G		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	264	93	0.352273	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	CCDS35023.1																																																																																			.	.	weak		0.433	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		G	40784132	A	G	40784132	2	3	22	1	0	0	0	0	0	0	0	1	18066	214	8	2		2	ZNF658	9	40784132	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10041	40784132	100429299	5134	10242										
FOXD4L3	286380	hgsc.bcm.edu	37	chr9	70918118	70918119	+	Frame_Shift_Del	DEL	CA	CA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcggcccgagcgacccctCagagtttggcaccaagttca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:70918118_70918119delCA	ENST00000342833.2	+	1	843_844	c.251_252delCA	c.(250-252)tcafs	p.S84fs		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	84						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AGCGACCCCTCAGAGTTTGGCA	0.698																																					p.84_84del		Atlas-Indel	.											.	FOXD4L3	7	.	0			c.250_251del						PASS	.																																			SO:0001589	frameshift_variant	286380	exon1			.	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.251_252delCA	9.37:g.70918118_70918119delCA	ENSP00000341961:p.Ser84fs	Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	469	74	0.157783	NM_199135	Q5JTX9	Frame_Shift_Del	DEL	ENST00000342833.2	37	CCDS43833.1																																																																																			.	.	none		0.698	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2	NM_199358		-	70918119	CA	-	70918118	7	5	22	1	0	1	0	1	0	0	0	0	6001	838	29	0	253	0	FOXD4L3	9	70918118	Frame_Shift_Del	DEL	CA	TCGA-G8-6324-01A-11D-2210-10	30133986	70918118	70295313	5135	10243										
FOXD4L3	286380	hgsc.bcm.edu	37	chr9	70919085	70919085	+	Frame_Shift_Del	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccaccaagggcgcggtgCtgggcgggcacctgtcggcc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:70919085delC	ENST00000342833.2	+	1	1810	c.1218delC	c.(1216-1218)tgcfs	p.C406fs		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	406						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGGCGCGGTGCTGGGCGGGCA	0.677																																					p.C406fs		Atlas-Indel	.											.	FOXD4L3	7	.	0			c.1217delG						PASS	.						2	3	2					9																	70919085		917	2379	3296	SO:0001589	frameshift_variant	286380	exon1			.	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.1218delC	9.37:g.70919085delC	ENSP00000341961:p.Cys406fs	Somatic	668	0	0		WXS	Illumina HiSeq	Phase_I	931	76	0.0816327	NM_199135	Q5JTX9	Frame_Shift_Del	DEL	ENST00000342833.2	37	CCDS43833.1																																																																																			.	.	none		0.677	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2	NM_199358		-	70919085	C	-	70919085	7	5	22	1	0	1	0	1	0	0	0	0	6001	805	28	0	1220	0	FOXD4L3	9	70919085	Frame_Shift_Del	DEL	C	TCGA-G8-6324-01A-11D-2210-10	967	70919085	70294346	5136	10244										
PRKACG	5568	hgsc.bcm.edu	37	chr9	71628207	71628207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggctccgcagcagatGcttgaggtcagagctgagtt	14	10	1	4	rs3730386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:71628207G>C	ENST00000377276.2	-	1	832	c.802C>G	c.(802-804)Cat>Gat	p.H268D		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> D (in dbSNP:rs3730386). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:2342480, ECO:0000269|Ref.3}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCAGCAGATGCTTGAGGTCA	0.592													C|||	1609	0.321286	0.3752	0.1772	5008	,	,		17415	0.3145		0.2684	False		,,,				2504	0.4121				p.H268D	Esophageal Squamous(110;2236 2623 32146)	Atlas-SNP	.											.	PRKACG	65	.	0			c.C802G						PASS	.	C	ASP/HIS	1596,2810	665.1+/-401.5	295,1006,902	89	89	89		802	1.6	0	9	dbSNP_107	89	2203,6397	710.5+/-405.8	275,1653,2372	yes	missense	PRKACG	NM_002732.3	81	570,2659,3274	CC,CG,GG		25.6163,36.2233,29.2096	benign	268/352	71628207	3799,9207	2203	4300	6503	SO:0001583	missense	5568	exon1			GCAGATGCTTGAG	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.802C>G	9.37:g.71628207G>C	ENSP00000366488:p.His268Asp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_002732	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	599	0.2742673992673993	179	0.3638211382113821	68	0.1878453038674033	159	0.27797202797202797	193	0.2546174142480211	C	0.149	-1.093767	0.01858	0.362233	0.256163	ENSG00000165059	ENST00000377276	T	0.05139	3.49	1.62	1.62	0.23740	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	0.00012	0.0000	N	0.00049	-2.415	0.51482	P	7.299999999998974E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.44757	-0.9307	8	0.02654	T	1	.	7.527	0.27660	0.0:0.7289:0.2711:0.0	rs3730386;rs3730386	268	P22612	KAPCG_HUMAN	D	268	ENSP00000366488:H268D	ENSP00000366488:H268D	H	-	1	0	PRKACG	70818027	1.000000	0.71417	0.001000	0.08648	0.024000	0.10985	2.604000	0.46274	0.027000	0.15297	-0.224000	0.12420	CAT	G|0.707;C|0.293	0.293	strong		0.592	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			C	71628207	G	C	71628207	3	2	22	1	0	0	0	0	1	0	0	0	12499	1319	46	4	257	4	PRKACG	9	71628207	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	709122	71628207	69585224	5137	10245										
TJP2	9414	hgsc.bcm.edu	37	chr9	71835842	71835842	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtccaggtggccgcacttCaggccagccctcccctggat	12	16	1	0	rs41305539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:71835842C>A	ENST00000377245.4	+	5	590	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	TJP2_ENST00000539225.1_Missense_Mutation_p.Q159K|TJP2_ENST00000265384.7_Missense_Mutation_p.Q128K|TJP2_ENST00000535702.1_Missense_Mutation_p.Q132K|TJP2_ENST00000453658.2_Missense_Mutation_p.Q105K|TJP2_ENST00000348208.4_Missense_Mutation_p.Q128K	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	128					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGCCGCACTTCAGGCCAGCCC	0.572													C|||	639	0.127596	0.3283	0.0331	5008	,	,		14868	0.0387		0.0368	False		,,,				2504	0.1084				p.Q159K		Atlas-SNP	.											.	TJP2	120	.	0			c.C475A						PASS	.	C	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	1328,3076	421.7+/-339.5	210,908,1084	37	34	35		313,394,475,382,382,382	2.9	0	9	dbSNP_127	35	166,8428	72.9+/-135.5	2,162,4133	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	53,53,53,53,53,53	212,1070,5217	AA,AC,CC		1.9316,30.1544,11.4941	benign,benign,benign,benign,benign,benign	105/1021,132/1158,159/1222,128/994,128/1191,128/1044	71835842	1494,11504	2202	4297	6499	SO:0001583	missense	9414	exon5			GCACTTCAGGCCA	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.382C>A	9.37:g.71835842C>A	ENSP00000366453:p.Gln128Lys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	93	54	0.580645	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	239	0.10943223443223443	171	0.3475609756097561	10	0.027624309392265192	23	0.04020979020979021	35	0.04617414248021108	C	0.375	-0.932100	0.02359	0.301544	0.019316	ENSG00000119139	ENST00000453658;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T	0.30182	3.18;1.54;3.18;3.18;3.17;3.18;3.23	6.03	2.89	0.33648	PDZ/DHR/GLGF (1);	0.573781	0.19319	N	0.117182	T	0.00012	0.0000	N	0.16368	0.405	0.80722	P	0.0	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.11329	0.004;0.006;0.002;0.003;0.004	T	0.37174	-0.9717	9	0.02654	T	1	.	12.0357	0.53423	0.3496:0.5619:0.0884:0.0	rs41305539	159;132;128;128;128	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	K	105;105;128;128;128;132;159	ENSP00000392178:Q105K;ENSP00000402941:Q105K;ENSP00000366453:Q128K;ENSP00000345893:Q128K;ENSP00000265384:Q128K;ENSP00000442090:Q132K;ENSP00000438262:Q159K	ENSP00000265384:Q128K	Q	+	1	0	TJP2	71025662	0.156000	0.22821	0.004000	0.12327	0.544000	0.35116	1.079000	0.30766	0.847000	0.35167	0.655000	0.94253	CAG	C|0.892;A|0.108	0.108	strong		0.572	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		A	71835842	C	A	71835842	3	1	22	1	0	0	0	0	1	0	0	0	15927	827	29	4	557	4	TJP2	9	71835842	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	207635	71835842	69377589	5138	10246										
TJP2	9414	hgsc.bcm.edu	37	chr9	71841018	71841018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagaggaaaactacagctAgtggtgttgagagacagcca	12	7	1	3	rs17062695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:71841018A>G	ENST00000377245.4	+	7	1345	c.1137A>G	c.(1135-1137)ctA>ctG	p.L379L	TJP2_ENST00000539225.1_Silent_p.L410L|TJP2_ENST00000265384.7_Silent_p.L379L|TJP2_ENST00000535702.1_Silent_p.L383L|TJP2_ENST00000453658.2_Silent_p.L356L|TJP2_ENST00000348208.4_Silent_p.L379L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	379	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AACTACAGCTAGTGGTGTTGA	0.408													A|||	558	0.111422	0.1596	0.1066	5008	,	,		18995	0.1151		0.0616	False		,,,				2504	0.0971				p.L410L		Atlas-SNP	.											.	TJP2	120	.	0			c.A1230G						PASS	.	A	,,,,,	623,3783	272.8+/-271.0	39,545,1619	73	71	72		1068,1149,1230,1137,1137,1137	-12.1	0.2	9	dbSNP_123	72	522,8078	147.4+/-202.8	13,496,3791	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	,,,,,	52,1041,5410	GG,GA,AA		6.0698,14.1398,8.8036	,,,,,	356/1021,383/1158,410/1222,379/994,379/1191,379/1044	71841018	1145,11861	2203	4300	6503	SO:0001819	synonymous_variant	9414	exon7			ACAGCTAGTGGTG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1137A>G	9.37:g.71841018A>G		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	218	71	0.325688	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	CCDS6627.1																																																																																			A|0.907;G|0.093	0.093	strong		0.408	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71841018	A	G	71841018	2	3	22	1	0	0	0	0	0	0	0	1	15927	407	15	3		3	TJP2	9	71841018	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5176	71841018	69372413	5139	10247										
TJP2	9414	hgsc.bcm.edu	37	chr9	71844124	71844124	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaccaaaagcagccccgaGaacttttcttcgtcctagtc	6	14	2	1	rs41277901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:71844124G>A	ENST00000377245.4	+	10	1686	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	TJP2_ENST00000535702.1_Missense_Mutation_p.R497K|TJP2_ENST00000539225.1_Missense_Mutation_p.R524K|TJP2_ENST00000348208.4_Missense_Mutation_p.R493K|TJP2_ENST00000265384.7_Missense_Mutation_p.R493K|TJP2_ENST00000453658.2_Missense_Mutation_p.R470K	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	493					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCAGCCCCGAGAACTTTTCTT	0.393													G|||	60	0.0119808	0.0356	0.0115	5008	,	,		19298	0.0		0.005	False		,,,				2504	0.0				p.R524K		Atlas-SNP	.											.	TJP2	120	.	0			c.G1571A						PASS	.	G	LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG	153,4253	106.5+/-144.9	0,153,2050	215	200	205		1409,1490,1571,1478,1478,1478	4	0.3	9	dbSNP_127	205	14,8586	11.2+/-40.8	0,14,4286	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	26,26,26,26,26,26	0,167,6336	AA,AG,GG		0.1628,3.4725,1.284	benign,benign,benign,benign,benign,benign	470/1021,497/1158,524/1222,493/994,493/1191,493/1044	71844124	167,12839	2203	4300	6503	SO:0001583	missense	9414	exon10			CCCCGAGAACTTT	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1478G>A	9.37:g.71844124G>A	ENSP00000366453:p.Arg493Lys	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	254	70	0.275591	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	19	0.0086996336996337	13	0.026422764227642278	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	13.41	2.227582	0.39399	0.034725	0.001628	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.08807	3.06;3.06;3.05;3.05;3.08;3.11	5.85	4.02	0.46733	PDZ/DHR/GLGF (1);	0.162144	0.56097	D	0.000036	T	0.01870	0.0059	L	0.29908	0.895	0.33647	D	0.608025	B;B;B;B;B	0.29136	0.234;0.007;0.004;0.007;0.021	B;B;B;B;B	0.28465	0.09;0.01;0.003;0.004;0.018	T	0.29731	-1.0002	10	0.24483	T	0.36	.	9.1425	0.36912	0.2159:0.0:0.7841:0.0	rs41277901;rs61731595	524;497;493;493;493	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	K	470;493;493;493;497;524	ENSP00000392178:R470K;ENSP00000366453:R493K;ENSP00000345893:R493K;ENSP00000265384:R493K;ENSP00000442090:R497K;ENSP00000438262:R524K	ENSP00000265384:R493K	R	+	2	0	TJP2	71033944	1.000000	0.71417	0.285000	0.24819	0.979000	0.70002	4.172000	0.58243	1.481000	0.48307	0.557000	0.71058	AGA	G|0.988;A|0.012	0.012	strong		0.393	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		A	71844124	G	A	71844124	3	1	22	1	0	0	0	0	1	0	0	0	15927	942	33	2	1673	2	TJP2	9	71844124	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3106	71844124	69369307	5140	10248										
TJP2	9414	hgsc.bcm.edu	37	chr9	71851080	71851080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtagacacactgtatgaCggcaagctgggcaactggct	14	9	0	2	rs12340440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:71851080C>T	ENST00000377245.4	+	13	2125	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	TJP2_ENST00000539225.1_Silent_p.D670D|TJP2_ENST00000265384.7_Silent_p.D639D|TJP2_ENST00000535702.1_Silent_p.D643D|TJP2_ENST00000453658.2_Silent_p.D616D|TJP2_ENST00000348208.4_Silent_p.D639D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	639	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CACTGTATGACGGCAAGCTGG	0.502													C|||	75	0.014976	0.0545	0.0043	5008	,	,		19727	0.0		0.0	False		,,,				2504	0.0				p.D670D		Atlas-SNP	.											TJP2,colon,carcinoma,0,1	TJP2	120	1	0			c.C2010T						scavenged	.	C	,,,,,	188,4218	120.4+/-158.0	5,178,2020	106	97	100		1848,1929,2010,1917,1917,1917	-3.3	1	9	dbSNP_120	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	,,,,,	5,179,6319	TT,TC,CC		0.0116,4.2669,1.4532	,,,,,	616/1021,643/1158,670/1222,639/994,639/1191,639/1044	71851080	189,12817	2203	4300	6503	SO:0001819	synonymous_variant	9414	exon13			GTATGACGGCAAG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1917C>T	9.37:g.71851080C>T		Somatic	54	1	0.0185185		WXS	Illumina HiSeq	Phase_I	57	36	0.631579	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	CCDS6627.1																																																																																			C|0.983;T|0.017	0.017	strong		0.502	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		T	71851080	C	T	71851080	2	4	22	1	0	0	0	0	0	0	0	1	15927	535	19	1		1	TJP2	9	71851080	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6956	71851080	69362351	5141	10249										
APBA1	320	hgsc.bcm.edu	37	chr9	72131577	72131577	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagtcggcatagggctcggAgtagggctcgtcctcaccgc	15	12	1	0	rs34788368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:72131577A>C	ENST00000265381.4	-	2	772	c.550T>G	c.(550-552)Tcc>Gcc	p.S184A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	184			S -> A (in dbSNP:rs34788368).		axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TAGGGCTCGGAGTAGGGCTCG	0.662													C|||	1018	0.203275	0.3245	0.1787	5008	,	,		12120	0.2976		0.0736	False		,,,				2504	0.093				p.S184A		Atlas-SNP	.											.	APBA1	96	.	0			c.T550G						PASS	.	C	ALA/SER	1219,3185		172,875,1155	35	32	33		550	5.1	1	9	dbSNP_126	33	773,7821		31,711,3555	yes	missense	APBA1	NM_001163.3	99	203,1586,4710	CC,CA,AA		8.9946,27.6794,15.3254	benign	184/838	72131577	1992,11006	2202	4297	6499	SO:0001583	missense	320	exon2			GCTCGGAGTAGGG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.550T>G	9.37:g.72131577A>C	ENSP00000265381:p.Ser184Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	54	29	0.537037	NM_001163	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	439	0.20100732600732601	162	0.32926829268292684	62	0.1712707182320442	161	0.28146853146853146	54	0.0712401055408971	C	0.026	-1.373835	0.01214	0.276794	0.089946	ENSG00000107282	ENST00000265381	T	0.03889	3.77	5.08	5.08	0.68730	.	0.126810	0.53938	N	0.000046	T	0.00012	0.0000	N	0.04880	-0.145	0.45515	P	0.0015260000000000273	B	0.02656	0.0	B	0.04013	0.001	T	0.44892	-0.9298	9	0.02654	T	1	.	15.3975	0.74808	0.1406:0.8594:0.0:0.0	rs34788368;rs62567207	184	Q02410	APBA1_HUMAN	A	184	ENSP00000265381:S184A	ENSP00000265381:S184A	S	-	1	0	APBA1	71321397	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	2.801000	0.47908	1.295000	0.44724	-0.217000	0.12591	TCC	A|0.828;C|0.172	0.172	strong		0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		C	72131577	A	C	72131577	3	2	22	1	0	0	0	0	1	0	0	0	756	304	11	5	2011	5	APBA1	9	72131577	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	280497	72131577	69081854	5142	10250										
C9orf135	138255	hgsc.bcm.edu	37	chr9	72472831	72472831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatcttgttttagggtcacCggattgcctgccacaggttt	10	9	2	0	rs10780682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:72472831C>T	ENST00000377197.3	+	4	474	c.387C>T	c.(385-387)acC>acT	p.T129T	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Silent_p.T129T	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	129						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTAGGGTCACCGGATTGCCTG	0.403													c|||	1355	0.270567	0.0938	0.2925	5008	,	,		19323	0.4067		0.331	False		,,,				2504	0.2914				p.T129T		Atlas-SNP	.											.	C9orf135	25	.	0			c.C387T						PASS	.	T		620,3786	268.3+/-268.4	52,516,1635	108	99	102		387	0	1	9	dbSNP_120	102	2875,5725	450.6+/-362.4	469,1937,1894	no	coding-synonymous	C9orf135	NM_001010940.1		521,2453,3529	TT,TC,CC		33.4302,14.0717,26.8722		129/230	72472831	3495,9511	2203	4300	6503	SO:0001819	synonymous_variant	138255	exon4			GGTCACCGGATTG		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.387C>T	9.37:g.72472831C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	57	13	0.22807	NM_001010940	A7E2U4|B2RN61	Silent	SNP	ENST00000377197.3	37	CCDS35041.1	631	0.2889194139194139	42	0.08536585365853659	112	0.30939226519337015	209	0.36538461538461536	268	0.35356200527704484	c	0.127	-1.118773	0.01785	0.140717	0.334302	ENSG00000204711	ENST00000480564	.	.	.	5.2	-0.0103	0.13997	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999979904	.	.	.	.	.	.	T	0.44452	-0.9327	3	.	.	.	-10.0596	4.5019	0.11869	0.1462:0.1956:0.0:0.6582	rs10780682;rs17518953;rs56592328;rs10780682	.	.	.	W	103	.	.	R	+	1	2	C9orf135	71662651	0.991000	0.36638	0.986000	0.45419	0.004000	0.04260	0.095000	0.15127	-0.170000	0.10816	-1.120000	0.02017	CGG	C|0.722;T|0.278	0.278	strong		0.403	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		T	72472831	C	T	72472831	2	4	22	1	0	0	0	0	0	0	0	1	2458	639	23	1		1	C9orf135	9	72472831	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	341254	72472831	68740600	5143	10251										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73150984	73150984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctctggaagggatttCgcaggcttgctgtgttccgc	13	10	1	0	rs6560142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73150984C>T	ENST00000377110.3	-	25	5252	c.5009G>A	c.(5008-5010)cGa>cAa	p.R1670Q	TRPM3_ENST00000377106.1_Missense_Mutation_p.R1542Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1532Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1674Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1529Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1532Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1529Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1519Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1529Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1542Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1697Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1695					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAGGGATTTCGCAGGCTTGC	0.562													C|||	3009	0.600839	0.6278	0.5764	5008	,	,		18907	0.7937		0.5835	False		,,,				2504	0.4008				p.R1670Q		Atlas-SNP	.											.	TRPM3	700	.	0			c.G5009A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2735,1671	657.4+/-400.2	862,1011,330	167	162	163		5009,4550,4586,4520,4556,4625,4595	5.8	1	9	dbSNP_116	163	4741,3859	609.1+/-395.5	1312,2117,871	yes	missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	43,43,43,43,43,43,43	2174,3128,1201	TT,TC,CC		44.8721,37.9256,42.5188	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1670/1708,1517/1555,1529/1567,1507/1545,1519/1557,1542/1580,1532/1570	73150984	7476,5530	2203	4300	6503	SO:0001583	missense	80036	exon25			GGATTTCGCAGGC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5009G>A	9.37:g.73150984C>T	ENSP00000366314:p.Arg1670Gln	Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	167	166	0.994012	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	CCDS43835.1	1406	0.6437728937728938	301	0.6117886178861789	194	0.5359116022099447	466	0.8146853146853147	445	0.5870712401055409	C	26.7	4.765198	0.90020	0.620744	0.551279	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.59638	0.36;0.27;0.27;0.25;0.36;0.25;0.28;0.27;0.27;0.35	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	N	0.24115	0.695	0.21386	P	0.999701503	D;D;P;D;D;D;D	0.71674	0.998;0.998;0.913;0.984;0.998;0.998;0.997	D;D;B;B;D;D;D	0.75484	0.986;0.979;0.233;0.381;0.979;0.979;0.953	T	0.31308	-0.9948	9	0.32370	T	0.25	-8.4256	19.9981	0.97395	0.0:1.0:0.0:0.0	rs6560142;rs17535977;rs52826401;rs60325149;rs6560142	1670;1660;1674;1532;1529;1642;1529	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	Q	1670;1542;1532;1529;1674;1529;1529;1542;1532;1697	ENSP00000366314:R1670Q;ENSP00000366310:R1542Q;ENSP00000354066:R1532Q;ENSP00000366309:R1529Q;ENSP00000350140:R1674Q;ENSP00000386127:R1529Q;ENSP00000379581:R1529Q;ENSP00000379587:R1542Q;ENSP00000350791:R1532Q;ENSP00000389542:R1697Q	ENSP00000350140:R1674Q	R	-	2	0	TRPM3	72340804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.729000	0.93468	0.655000	0.94253	CGA	C|0.396;T|0.604	0.604	strong		0.562	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		T	73150984	C	T	73150984	3	4	22	1	0	0	0	0	1	0	0	0	16584	884	31	1	118	1	TRPM3	9	73150984	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	678153	73150984	68062447	5144	10252										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73151130	73151133	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatgttgttggacagggtTctctctgagttatcaccctc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCTC	TCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73151130_73151133delTCTC	ENST00000377110.3	-	25	5103_5106	c.4860_4863delGAGA	c.(4858-4863)gagagafs	p.ER1620fs	TRPM3_ENST00000377106.1_Frame_Shift_Del_p.ER1492fs|TRPM3_ENST00000358082.3_Frame_Shift_Del_p.ER1482fs|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.ER1624fs|TRPM3_ENST00000396285.1_Frame_Shift_Del_p.ER1479fs|TRPM3_ENST00000360823.2_Frame_Shift_Del_p.ER1482fs|TRPM3_ENST00000408909.2_Frame_Shift_Del_p.ER1479fs|TRPM3_ENST00000396280.5_Frame_Shift_Del_p.ER1469fs|TRPM3_ENST00000377105.1_Frame_Shift_Del_p.ER1479fs|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Frame_Shift_Del_p.ER1492fs|TRPM3_ENST00000423814.3_Frame_Shift_Del_p.ER1647fs			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1645					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGACAGGGTTCTCTCTGAGTTAT	0.544																																					p.1621_1622del		Pindel,Atlas-Indel	.											.	TRPM3	700	.	0			c.4861_4864del						PASS	.		,,,,,,	5,4259		0,5,2127					,,,,,,	-3.5	0.6			363	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	TRPM3	NM_206947.3,NM_206946.3,NM_206945.3,NM_206944.3,NM_024971.5,NM_020952.4,NM_001007471.2	,,,,,,	0,5,6254	A1A1,A1R,RR		0.0,0.1173,0.0399	,,,,,,	,,,,,,		5,12513				SO:0001589	frameshift_variant	80036	exon25			.	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4860_4863delGAGA	9.37:g.73151130_73151133delTCTC	ENSP00000366314:p.Glu1620fs	Somatic	439	.	.		WXS	Illumina HiSeq	Phase_I	453	86	0.19	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Del	DEL	ENST00000377110.3	37	CCDS43835.1																																																																																			.	.	none		0.544	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		-	73151133	TCTC	-	73151130	7	5	22	1	0	1	0	1	0	0	0	0	16584	1780	62	0	264	0	TRPM3	9	73151130	Frame_Shift_Del	DEL	TCTC	TCGA-G8-6324-01A-11D-2210-10	146	73151130	68062301	5145	10253										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73151970	73151970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgtctttcatattgacCgaatagaaagaatggcttcg	8	8	2	3	rs3739776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73151970C>T	ENST00000377110.3	-	25	4266	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	TRPM3_ENST00000377106.1_Silent_p.S1213S|TRPM3_ENST00000358082.3_Silent_p.S1203S|TRPM3_ENST00000357533.2_Silent_p.S1345S|TRPM3_ENST00000396285.1_Silent_p.S1200S|TRPM3_ENST00000360823.2_Silent_p.S1203S|TRPM3_ENST00000408909.2_Silent_p.S1200S|TRPM3_ENST00000396280.5_Silent_p.S1190S|TRPM3_ENST00000377105.1_Silent_p.S1200S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Silent_p.S1213S|TRPM3_ENST00000423814.3_Silent_p.S1368S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1366					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCATATTGACCGAATAGAAAG	0.458													C|||	2815	0.562101	0.5703	0.5706	5008	,	,		20165	0.6954		0.5815	False		,,,				2504	0.3875				p.S1341S		Atlas-SNP	.											.	TRPM3	700	.	0			c.G4023A						PASS	.	C	,,,,,,	2542,1864	633.4+/-396.0	729,1084,390	93	98	97		4023,3564,3600,3534,3570,3639,3609	-11.7	0.5	9	dbSNP_107	97	4734,3866	607.1+/-395.2	1307,2120,873	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	2036,3204,1263	TT,TC,CC		44.9535,42.3059,44.0566	,,,,,,	1341/1708,1188/1555,1200/1567,1178/1545,1190/1557,1213/1580,1203/1570	73151970	7276,5730	2203	4300	6503	SO:0001819	synonymous_variant	80036	exon25			ATTGACCGAATAG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4023G>A	9.37:g.73151970C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	187	187	1	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	CCDS43835.1	1320	0.6043956043956044	279	0.5670731707317073	193	0.5331491712707183	404	0.7062937062937062	444	0.5857519788918206	C	1.188	-0.636184	0.03557	0.576941	0.550465	ENSG00000083067	ENST00000396280	.	.	.	6.17	-11.7	0.00046	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22226	P	0.999273448	.	.	.	.	.	.	T	0.32693	-0.9897	3	.	.	.	-2.9687	7.3724	0.26808	0.1495:0.4854:0.0821:0.283	rs3739776;rs59345790;rs3739776	.	.	.	S	1190	.	.	G	-	1	0	TRPM3	72341790	0.007000	0.16637	0.493000	0.27502	0.877000	0.50540	-1.088000	0.03379	-1.804000	0.01241	-2.455000	0.00206	GGT	C|0.427;T|0.573	0.573	strong		0.458	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		T	73151970	C	T	73151970	2	4	22	1	0	0	0	0	0	0	0	1	16584	639	23	1		1	TRPM3	9	73151970	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	840	73151970	68061461	5146	10254										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73240431	73240431	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaccgaaacctggatactcTcgcttggaaagaagacataa	8	10	1	2	rs73451725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73240431T>G	ENST00000357533.2	-	13	1640	c.1641A>C	c.(1639-1641)cgA>cgC	p.R547R	TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000408909.2_Silent_p.R392R|TRPM3_ENST00000396280.5_Silent_p.R392R|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377105.1_Silent_p.R392R|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000423814.3_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	569					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGGATACTCTCGCTTGGAAA	0.294													T|||	701	0.139976	0.1498	0.1167	5008	,	,		19826	0.2302		0.0885	False		,,,				2504	0.1033				p.R392R		Atlas-SNP	.											.	TRPM3	700	.	0			c.A1176C						PASS	.	T	,,,,,,	713,3693	291.3+/-281.4	60,593,1550	61	66	65		,,1176,,1176,,	6	1	9	dbSNP_130	65	846,7754	193.7+/-239.3	43,760,3497	no	intron,intron,coding-synonymous,intron,coding-synonymous,intron,intron	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	103,1353,5047	GG,GT,TT		9.8372,16.1825,11.9868	,,,,,,	,,392/1567,,392/1557,,	73240431	1559,11447	2203	4300	6503	SO:0001819	synonymous_variant	80036	exon13			ATACTCTCGCTTG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.1641A>C	9.37:g.73240431T>G		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	145	88	0.606897	NM_206945	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000357533.2	37																																																																																				T|0.873;G|0.127	0.127	strong		0.294	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000214163.1	NM_206945		G	73240431	T	G	73240431	2	3	22	1	0	0	0	0	0	0	0	1	16584	1538	54	5		5	TRPM3	9	73240431	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	88461	73240431	67973000	5147	10255										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73461337	73461337	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccacgctccagttgtcatTgctgctttgatgagcccttt	8	12	1	2	rs7862440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73461337T>A	ENST00000377111.2	-	4	876	c.633A>T	c.(631-633)gcA>gcT	p.A211A	TRPM3_ENST00000377106.1_Silent_p.A58A|TRPM3_ENST00000358082.3_Silent_p.A58A|TRPM3_ENST00000357533.2_Silent_p.A213A|TRPM3_ENST00000396285.1_Silent_p.A58A|TRPM3_ENST00000360823.2_Silent_p.A58A|TRPM3_ENST00000408909.2_Silent_p.A58A|TRPM3_ENST00000396280.5_Silent_p.A58A|TRPM3_ENST00000361823.5_Silent_p.A58A|TRPM3_ENST00000377110.3_Silent_p.A211A|TRPM3_ENST00000377105.1_Silent_p.A58A|TRPM3_ENST00000396283.1_Silent_p.A58A|TRPM3_ENST00000396292.4_Silent_p.A58A|TRPM3_ENST00000423814.3_Silent_p.A213A|TRPM3_ENST00000377097.3_Silent_p.A58A|TRPM3_ENST00000377101.1_Silent_p.A58A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	211					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGTTGTCATTGCTGCTTTGA	0.483													A|||	2607	0.520567	0.5885	0.5591	5008	,	,		17392	0.2728		0.5835	False		,,,				2504	0.592				p.A211A		Atlas-SNP	.											.	TRPM3	700	.	0			c.A633T						PASS	.	A	,,,,,,,,	2473,1933	550.0+/-377.9	707,1059,437	221	213	215		174,633,174,174,174,174,174,174,174	2.6	1	9	dbSNP_116	215	5069,3531	515.0+/-378.5	1482,2105,713	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	,,,,,,,,	2189,3164,1150	AA,AT,TT		41.0581,43.872,42.0114	,,,,,,,,	58/256,211/1708,58/1555,58/1567,58/1545,58/1557,58/1580,58/1570,58/231	73461337	7542,5464	2203	4300	6503	SO:0001819	synonymous_variant	80036	exon4			TGTCATTGCTGCT	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.633A>T	9.37:g.73461337T>A		Somatic	479	1	0.00208768		WXS	Illumina HiSeq	Phase_I	461	461	1	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		1074|1074	0.49175824175824173|0.49175824175824173	280|280	0.5691056910569106|0.5691056910569106	214|214	0.5911602209944752|0.5911602209944752	139|139	0.243006993006993|0.243006993006993	441|441	0.5817941952506597|0.5817941952506597	A|A	10.70|10.70	1.423613|1.423613	0.25639|0.25639	0.56128|0.56128	0.589419|0.589419	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377097	.|.	.|.	.|.	5.54|5.54	2.61|2.61	0.31194|0.31194	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43589|0.43589	-0.9382|-0.9382	3|3	.|.	.|.	.|.	-20.3858|-20.3858	2.883|2.883	0.05653|0.05653	0.1967:0.2206:0.4692:0.1136|0.1967:0.2206:0.4692:0.1136	rs7862440;rs17845693;rs17858635;rs7862440|rs7862440;rs17845693;rs17858635;rs7862440	.|.	.|.	.|.	Y|L	58|101	.|.	.|.	N|Q	-|-	1|2	0|0	TRPM3|TRPM3	72651157|72651157	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	0.268000|0.268000	0.18571|0.18571	0.020000|0.020000	0.15106|0.15106	-1.003000|-1.003000	0.02500|0.02500	AAT|CAA	T|0.455;A|0.545	0.545	strong		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73461337	T	A	73461337	2	1	22	1	0	0	0	0	0	0	0	1	16584	1799	63	5		5	TRPM3	9	73461337	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	220906	73461337	67752094	5148	10256										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73477930	73477930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacttttcagactggatgTcatttcgggagaggcgactt	11	9	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:73477930T>C	ENST00000377111.2	-	3	599	c.356A>G	c.(355-357)gAc>gGc	p.D119G	TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000357533.2_Missense_Mutation_p.D121G|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377110.3_Missense_Mutation_p.D119G|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000423814.3_Missense_Mutation_p.D121G|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377101.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	119					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGACTGGATGTCATTTCGGGA	0.507																																					p.D119G		Atlas-SNP	.											TRPM3_ENST00000423814,right_upper_lobe,carcinoma,0,2	TRPM3	700	2	0			c.A356G						scavenged	.						171	177	175					9																	73477930		2203	4300	6503	SO:0001583	missense	80036	exon3			TGGATGTCATTTC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.356A>G	9.37:g.73477930T>C	ENSP00000366315:p.Asp119Gly	Somatic	285	1	0.00350877		WXS	Illumina HiSeq	Phase_I	272	4	0.0147059	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.84|15.84	2.952557|2.952557	0.53293|0.53293	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814|ENST00000377097	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55226|0.55226	0.1907|0.1907	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.43024|.	0.049;0.798;0.024;0.0|.	B;P;B;B|.	0.46299|.	0.027;0.511;0.023;0.003|.	T|T	0.51560|0.51560	-0.8690|-0.8690	10|5	0.14656|.	T|.	0.56|.	-5.597|-5.597	16.4159|16.4159	0.83738|0.83738	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	119;121;119;119|.	Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10|.	TRPM3_HUMAN;.;.;.|.	G|A	119;119;121;121|9	ENSP00000366315:D119G;ENSP00000366314:D119G;ENSP00000350140:D121G;ENSP00000389542:D121G|.	ENSP00000350140:D121G|.	D|T	-|-	2|1	0|0	TRPM3|TRPM3	72667750|72667750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.915000|5.915000	0.69973|0.69973	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAC|ACA	.	.	none		0.507	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		C	73477930	T	C	73477930	3	2	22	1	0	0	0	0	1	0	0	0	16584	1667	58	2	4982	2	TRPM3	9	73477930	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16593	73477930	67735501	5149	10257										
TMEM2	23670	hgsc.bcm.edu	37	chr9	74360395	74360395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatttatagcggcatttttcTgctccaatatgaagcgcccc	8	11	1	1	rs76670837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:74360395T>C	ENST00000377044.4	-	4	1112	c.573A>G	c.(571-573)gcA>gcG	p.A191A	TMEM2_ENST00000377066.5_Silent_p.A191A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	191	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCATTTTTCTGCTCCAATAT	0.413													T|||	302	0.0603035	0.0998	0.0591	5008	,	,		18601	0.0		0.0934	False		,,,				2504	0.0358				p.A191A		Atlas-SNP	.											.	TMEM2	112	.	0			c.A573G						PASS	.	T	,	364,4042	186.4+/-213.3	16,332,1855	100	101	101		573,573	5.9	1	9	dbSNP_132	101	576,8024	155.2+/-209.3	25,526,3749	no	coding-synonymous,coding-synonymous	TMEM2	NM_001135820.1,NM_013390.2	,	41,858,5604	CC,CT,TT		6.6977,8.2615,7.2274	,	191/1321,191/1384	74360395	940,12066	2203	4300	6503	SO:0001819	synonymous_variant	23670	exon4			TTTTTCTGCTCCA		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.573A>G	9.37:g.74360395T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	91	55	0.604396	NM_001135820	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																			T|0.926;C|0.074	0.074	strong		0.413	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74360395	T	C	74360395	2	2	22	1	0	0	0	0	0	0	0	1	16118	1567	55	3		3	TMEM2	9	74360395	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	882465	74360395	66853036	5150	10258										
ALDH1A1	216	hgsc.bcm.edu	37	chr9	75545882	75545882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatccatagtacgccacggGgatccaatctgaaaagcctg	10	12	1	1	rs13959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:75545882G>A	ENST00000297785.3	-	3	279	c.225C>T	c.(223-225)tcC>tcT	p.S75S	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Silent_p.S75S	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	75					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TACGCCACGGGGATCCAATCT	0.468													A|||	2050	0.409345	0.1664	0.4885	5008	,	,		18441	0.4554		0.503	False		,,,				2504	0.5378				p.S75S		Atlas-SNP	.											.	ALDH1A1	98	.	0			c.C225T						PASS	.	A		1101,3305	720.0+/-409.0	128,845,1230	84	87	86		225	-1.8	1	9	dbSNP_52	86	4295,4305	578.0+/-390.7	1051,2193,1056	no	coding-synonymous	ALDH1A1	NM_000689.4		1179,3038,2286	AA,AG,GG		49.9419,24.9887,41.4885		75/502	75545882	5396,7610	2203	4300	6503	SO:0001819	synonymous_variant	216	exon3			CCACGGGGATCCA	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.225C>T	9.37:g.75545882G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	106	38	0.358491	NM_000689	O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																			G|0.598;A|0.402	0.402	strong		0.468	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			A	75545882	G	A	75545882	2	1	22	1	0	0	0	0	0	0	0	1	490	1219	43	2		2	ALDH1A1	9	75545882	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1185487	75545882	65667549	5151	10259										
RORB	6096	hgsc.bcm.edu	37	chr9	77245265	77245265	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatccactacggagtcatCacatgtgaaggctgcaaggt	13	9	2	1	rs41307459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77245265C>T	ENST00000396204.2	+	2	108	c.108C>T	c.(106-108)atC>atT	p.I36I	RORB_ENST00000376896.3_Silent_p.I25I			Q92753	RORB_HUMAN	RAR-related orphan receptor B	36					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	ACGGAGTCATCACATGTGAAG	0.443													C|||	12	0.00239617	0.0	0.0014	5008	,	,		19502	0.0		0.0099	False		,,,				2504	0.001				p.I25I		Atlas-SNP	.											.	RORB	89	.	0			c.C75T						PASS	.	C		7,4399	12.9+/-30.5	0,7,2196	164	134	144		75	5.3	1	9	dbSNP_127	144	53,8547	33.3+/-86.6	0,53,4247	no	coding-synonymous	RORB	NM_006914.3		0,60,6443	TT,TC,CC		0.6163,0.1589,0.4613		25/460	77245265	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	6096	exon2			AGTCATCACATGT	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.108C>T	9.37:g.77245265C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	135	51	0.377778	NM_006914	Q8WX73	Silent	SNP	ENST00000396204.2	37																																																																																				C|0.996;T|0.004	0.004	strong		0.443	RORB-201	KNOWN	basic	protein_coding	protein_coding				T	77245265	C	T	77245265	2	4	22	1	0	0	0	0	0	0	0	1	13529	816	29	2		2	RORB	9	77245265	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1699383	77245265	63968166	5152	10260										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77376633	77376633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacctggagtccttgagtAttcttctttttctttgacag	9	9	3	2	rs2274925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77376633A>G	ENST00000360774.1	-	27	5001	c.4764T>C	c.(4762-4764)aaT>aaC	p.N1588N	TRPM6_ENST00000376864.4_Silent_p.N1588N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Silent_p.N1583N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Silent_p.N1588N|TRPM6_ENST00000449912.2_Silent_p.N1583N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1588					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						GTCCTTGAGTATTCTTCTTTT	0.418													A|||	845	0.16873	0.3457	0.0663	5008	,	,		18651	0.1597		0.0785	False		,,,				2504	0.1043				p.N1588N		Atlas-SNP	.											.	TRPM6	377	.	0			c.T4764C						PASS	.	A	,,	1392,3014	457.6+/-351.7	237,918,1048	186	163	171		4749,4749,4764	0.2	0.1	9	dbSNP_100	171	599,8001	157.9+/-211.5	19,561,3720	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	256,1479,4768	GG,GA,AA		6.9651,31.5933,15.3083	,,	1583/2018,1583/2018,1588/2023	77376633	1991,11015	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon27			TTGAGTATTCTTC	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.4764T>C	9.37:g.77376633A>G		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	214	138	0.64486	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			A|0.851;G|0.149	0.149	strong		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77376633	A	G	77376633	2	3	22	1	0	0	0	0	0	0	0	1	16587	446	16	2		2	TRPM6	9	77376633	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	131368	77376633	63836798	5153	10261										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77376647	77376647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagtattcttctttttctTtgacagtctcctgtctttgg	7	8	5	2	rs2274924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77376647T>C	ENST00000360774.1	-	27	4987	c.4750A>G	c.(4750-4752)Aag>Gag	p.K1584E	TRPM6_ENST00000376864.4_Missense_Mutation_p.K1584E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.K1579E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.K1584E|TRPM6_ENST00000449912.2_Missense_Mutation_p.K1579E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1584			K -> E (in dbSNP:rs2274924). {ECO:0000269|PubMed:17344846}.		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)	p.K1584E(1)		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						TTCTTTTTCTTTGACAGTCTC	0.428													T|||	1477	0.294928	0.4463	0.147	5008	,	,		18536	0.3155		0.1571	False		,,,				2504	0.316				p.K1584E		Atlas-SNP	.											TRPM6,caecum,carcinoma,+2,2	TRPM6	377	2	1	Substitution - Missense(1)	stomach(1)	c.A4750G						PASS	.	T	GLU/LYS,GLU/LYS,GLU/LYS	1727,2679	519.0+/-369.9	333,1061,809	204	177	186		4735,4735,4750	4.6	0.6	9	dbSNP_100	186	1335,7265	261.9+/-284.1	91,1153,3056	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	56,56,56	424,2214,3865	CC,CT,TT		15.5233,39.1966,23.543	benign,benign,benign	1579/2018,1579/2018,1584/2023	77376647	3062,9944	2203	4300	6503	SO:0001583	missense	140803	exon27			TTTTCTTTGACAG	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.4750A>G	9.37:g.77376647T>C	ENSP00000354006:p.Lys1584Glu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	205	135	0.658537	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	544	0.2490842490842491	190	0.3861788617886179	46	0.1270718232044199	182	0.3181818181818182	126	0.1662269129287599	T	16.64	3.179714	0.57800	0.391966	0.155233	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.56444	0.55;0.55;0.56;0.55;0.46	5.77	4.64	0.57946	.	0.437410	0.27039	N	0.021226	T	0.00012	0.0000	L	0.59436	1.845	0.34496	P	0.294519	P;P;P	0.42692	0.682;0.675;0.787	B;B;P	0.46758	0.326;0.426;0.526	T	0.36187	-0.9758	9	0.62326	D	0.03	.	10.7405	0.46149	0.0:0.0749:0.0:0.9251	rs2274924;rs61238454;rs2274924	1584;1579;1579	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	E	1584;1584;1579;1579;1584	ENSP00000354006:K1584E;ENSP00000407341:K1584E;ENSP00000396672:K1579E;ENSP00000354962:K1579E;ENSP00000366060:K1584E	ENSP00000354006:K1584E	K	-	1	0	TRPM6	76566467	0.888000	0.30383	0.558000	0.28319	0.405000	0.30901	1.602000	0.36783	1.131000	0.42111	0.528000	0.53228	AAG	T|0.756;C|0.244	0.244	strong		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		C	77376647	T	C	77376647	3	2	22	1	0	0	0	0	1	0	0	0	16587	1850	64	2	1370	2	TRPM6	9	77376647	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	77376647	63836784	5154	10262										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77407636	77407636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactttccaaaccaaaatgCtgattttcatccagtttctc	3	13	2	1	rs4145894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77407636C>T	ENST00000360774.1	-	19	2679	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Silent_p.Q814Q|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.Q809Q|TRPM6_ENST00000361255.3_Silent_p.Q809Q|TRPM6_ENST00000376864.4_Silent_p.Q814Q	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	814					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						AACCAAAATGCTGATTTTCAT	0.373													C|||	1344	0.268371	0.0144	0.3919	5008	,	,		17055	0.5149		0.1769	False		,,,				2504	0.364				p.Q814Q		Atlas-SNP	.											.	TRPM6	377	.	0			c.G2442A						PASS	.	C	,,	186,4220	119.6+/-157.3	1,184,2018	149	124	133		2427,2427,2442	0.2	0.9	9	dbSNP_110	133	1571,7029	293.1+/-301.2	146,1279,2875	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	147,1463,4893	TT,TC,CC		18.2674,4.2215,13.5091	,,	809/2018,809/2018,814/2023	77407636	1757,11249	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon19			AAAATGCTGATTT	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.2442G>A	9.37:g.77407636C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	144	56	0.388889	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			C|0.819;T|0.181	0.181	strong		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77407636	C	T	77407636	2	4	22	1	0	0	0	0	0	0	0	1	16587	796	28	2		2	TRPM6	9	77407636	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30989	77407636	63805795	5155	10263										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77415284	77415284	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcccgacacggccagtttAaggcaggtcgaattgctcca	10	14	0	0	rs7859201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77415284A>C	ENST00000360774.1	-	17	2361	c.2124T>G	c.(2122-2124)ctT>ctG	p.L708L	RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376864.4_Silent_p.L708L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Silent_p.L703L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Silent_p.L708L|TRPM6_ENST00000449912.2_Silent_p.L703L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	708			L -> P (in HOMG1; loss of function; no effect on cell membrane localization). {ECO:0000269|PubMed:23942199}.		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						CGGCCAGTTTAAGGCAGGTCG	0.498													C|||	2308	0.460863	0.7436	0.3415	5008	,	,		18117	0.3482		0.3728	False		,,,				2504	0.3701				p.L708L		Atlas-SNP	.											.	TRPM6	377	.	0			c.T2124G						PASS	.	C	,,	2924,1482	475.3+/-357.3	973,978,252	130	106	114		2109,2109,2124	3.2	0.8	9	dbSNP_116	114	3264,5336	648.3+/-400.5	607,2050,1643	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	1580,3028,1895	CC,CA,AA		37.9535,33.636,47.578	,,	703/2018,703/2018,708/2023	77415284	6188,6818	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon17			CAGTTTAAGGCAG	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.2124T>G	9.37:g.77415284A>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	81	0.637795	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			A|0.532;C|0.468	0.468	strong		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		C	77415284	A	C	77415284	2	2	22	1	0	0	0	0	0	0	0	1	16587	349	13	5		5	TRPM6	9	77415284	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7648	77415284	63798147	5156	10264										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77418802	77418802	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgaggagtgtctctggtGctgggaaaggttttgaacaa	14	6	1	2	rs115354606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:77418802G>A	ENST00000360774.1	-	15	1876	c.1639C>T	c.(1639-1641)Cac>Tac	p.H547Y	TRPM6_ENST00000376864.4_Splice_Site_p.H547Y|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Splice_Site_p.H542Y|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Splice_Site_p.H547Y|TRPM6_ENST00000449912.2_Splice_Site_p.H542Y	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	547					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						TGTCTCTGGTGCTGGGAAAGG	0.388													G|||	164	0.0327476	0.1127	0.0187	5008	,	,		17133	0.0		0.002	False		,,,				2504	0.0				p.H547Y		Atlas-SNP	.											.	TRPM6	377	.	0			c.C1639T						PASS	.	G	TYR/HIS,TYR/HIS,TYR/HIS	400,4006	201.1+/-224.2	18,364,1821	142	135	137		1624,1624,1639	2.7	0.7	9	dbSNP_132	137	9,8591	6.4+/-24.3	0,9,4291	yes	missense-near-splice,missense-near-splice,missense-near-splice	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	83,83,83	18,373,6112	AA,AG,GG		0.1047,9.0785,3.1447	benign,benign,benign	542/2018,542/2018,547/2023	77418802	409,12597	2203	4300	6503	SO:0001630	splice_region_variant	140803	exon15			TCTGGTGCTGGGA	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.1639-1C>T	9.37:g.77418802G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	61	0.693182	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	67	0.030677655677655676	58	0.11788617886178862	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	G	16.51	3.143177	0.57044	0.090785	0.001047	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.51	2.69	0.31865	.	0.768746	0.12808	N	0.437439	T	0.03390	0.0098	M	0.67953	2.075	0.36472	P	0.132695	D;B	0.54397	0.966;0.402	P;B	0.49421	0.61;0.196	T	0.47799	-0.9089	9	0.62326	D	0.03	.	6.3637	0.21443	0.2288:0.1334:0.6379:0.0	.	547;542	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	Y	547;547;542;542;547;210;210	ENSP00000354006:H547Y;ENSP00000407341:H547Y;ENSP00000396672:H542Y;ENSP00000354962:H542Y;ENSP00000366060:H547Y	ENSP00000309693:H210Y	H	-	1	0	TRPM6	76608622	0.107000	0.21998	0.717000	0.30585	0.861000	0.49209	0.067000	0.14510	0.302000	0.22762	0.563000	0.77884	CAC	G|0.969;A|0.031	0.031	strong		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Missense_Mutation	A	77418802	G	A	77418802	5	1	22	1	0	0	0	0	0	0	1	0	16587	1333	46	2	4529	2	TRPM6	9	77418802	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3518	77418802	63794629	5157	10265										
PCSK5	5125	hgsc.bcm.edu	37	chr9	78506181	78506181	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgggggctgcctgctcccCgtgtgtcggacgcgcgtcta	15	15	1	0	rs34813806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:78506181C>A	ENST00000545128.1	+	1	622	c.84C>A	c.(82-84)ccC>ccA	p.P28P	PCSK5_ENST00000376767.3_Silent_p.P28P|PCSK5_ENST00000376752.4_Silent_p.P28P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	28					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCTGCTCCCCGTGTGTCGGA	0.677													C|||	55	0.0109824	0.0386	0.0058	5008	,	,		12564	0.0		0.0	False		,,,				2504	0.0				p.P28P		Atlas-SNP	.											.	PCSK5	329	.	0			c.C84A						PASS	.	C	,	116,4290	76.8+/-115.0	3,110,2090	42	51	48		84,84	-4	1	9	dbSNP_126	48	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	PCSK5	NM_001190482.1,NM_006200.3	,	3,116,6384	AA,AC,CC		0.0698,2.6328,0.938	,	28/1861,28/914	78506181	122,12884	2203	4300	6503	SO:0001819	synonymous_variant	5125	exon1			GCTCCCCGTGTGT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.84C>A	9.37:g.78506181C>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	104	77	0.740385	NM_006200	F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	CCDS55320.1																																																																																			C|0.990;A|0.010	0.010	strong		0.677	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	78506181	C	A	78506181	2	1	22	1	0	0	0	0	0	0	0	1	11603	639	23	4		4	PCSK5	9	78506181	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1087379	78506181	62707250	5158	10266										
PRUNE2	158471	hgsc.bcm.edu	37	chr9	79319725	79319725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaaatcagaattatctgTttctacttcccagtcaacgt	6	9	4	1	rs375144440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:79319725T>C	ENST00000376718.3	-	8	7588	c.7465A>G	c.(7465-7467)Aca>Gca	p.T2489A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2130A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2489					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATTATCTGTTTCTACTTCC	0.448											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	2	0.000399361	0.0015	0.0	5008	,	,		20535	0.0		0.0	False		,,,				2504	0.0				p.T2489A		Atlas-SNP	.											.	PRUNE2	331	.	0			c.A7465G						PASS	.	T	ALA/THR	5,3131		0,5,1563	72	60	64		7465	-1.6	0.2	9		64	0,7162		0,0,3581	no	missense	PRUNE2	NM_015225.2	58	0,5,5144	CC,CT,TT		0.0,0.1594,0.0486	benign	2489/3089	79319725	5,10293	1568	3581	5149	SO:0001583	missense	158471	exon8			TATCTGTTTCTAC	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7465A>G	9.37:g.79319725T>C	ENSP00000365908:p.Thr2489Ala	Somatic	132	0	0	1190	WXS	Illumina HiSeq	Phase_I	149	104	0.697987	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.828|6.828	0.521980|0.521980	0.13005|0.13005	0.001594|0.001594	0.0|0.0	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.47869	.|0.83;0.83	5.66|5.66	-1.6|-1.6	0.08426|0.08426	.|.	.|0.512611	.|0.18219	.|N	.|0.147951	T|T	0.31295|0.31295	0.0792|0.0792	L|L	0.48362|0.48362	1.52|1.52	0.25662|0.25662	N|N	0.985999|0.985999	.|B	.|0.15141	.|0.012	.|B	.|0.11329	.|0.006	T|T	0.15235|0.15235	-1.0444|-1.0444	5|10	.|0.21540	.|T	.|0.41	-0.3544|-0.3544	4.9213|4.9213	0.13871|0.13871	0.3138:0.2585:0.0:0.4276|0.3138:0.2585:0.0:0.4276	.|.	.|2489	.|Q8WUY3	.|PRUN2_HUMAN	S|A	1810|2489;2130;2488	.|ENSP00000365908:T2489A;ENSP00000397425:T2130A	.|ENSP00000365908:T2489A	N|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78509545|78509545	0.492000|0.492000	0.26027|0.26027	0.226000|0.226000	0.23910|0.23910	0.731000|0.731000	0.41821|0.41821	0.124000|0.124000	0.15728|0.15728	-0.097000|-0.097000	0.12307|0.12307	0.533000|0.533000	0.62120|0.62120	AAC|ACA	.	.	weak		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79319725	T	C	79319725	3	2	22	1	0	0	0	0	1	0	0	0	12641	1725	60	2	1849	2	PRUNE2	9	79319725	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	813544	79319725	61893706	5159	10267										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79875104	79875104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcattccaaaacctgaaccAgtaactgaagtatctgcccc	6	13	1	2	rs73466058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:79875104A>G	ENST00000360280.3	+	23	2651	c.2391A>G	c.(2389-2391)ccA>ccG	p.P797P	VPS13A_ENST00000376634.4_Silent_p.P797P|VPS13A_ENST00000357409.5_Silent_p.P797P|VPS13A_ENST00000376636.3_Silent_p.P797P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	797					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACCTGAACCAGTAACTGAAG	0.313													A|||	72	0.014377	0.0537	0.0014	5008	,	,		13428	0.0		0.0	False		,,,				2504	0.0				p.P797P		Atlas-SNP	.											.	VPS13A	735	.	0			c.A2391G						PASS	.	A	,,,	182,4224	118.0+/-155.7	3,176,2024	72	73	73		2391,2391,2391,2391	1.9	0	9	dbSNP_130	73	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	3,177,6322	GG,GA,AA		0.0116,4.1307,1.4073	,,,	797/3136,797/3070,797/3096,797/3175	79875104	183,12821	2203	4299	6502	SO:0001819	synonymous_variant	23230	exon23			TGAACCAGTAACT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2391A>G	9.37:g.79875104A>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	150	93	0.62	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																			A|0.987;G|0.013	0.013	strong		0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79875104	A	G	79875104	2	3	22	1	0	0	0	0	0	0	0	1	17186	175	7	3		3	VPS13A	9	79875104	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	555379	79875104	61338327	5160	10268										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79929004	79929004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcaaaactgatgatctcaCcatggtgctgtatagtccag	8	10	2	2	rs140993797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:79929004C>T	ENST00000360280.3	+	36	4471	c.4211C>T	c.(4210-4212)aCc>aTc	p.T1404I	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1404I|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1404I|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1365I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1404					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGATCTCACCATGGTGCTG	0.388																																					p.T1404I		Atlas-SNP	.											.	VPS13A	735	.	0			c.C4211T						PASS	.	C	ILE/THR,ILE/THR,ILE/THR,ILE/THR	3,4403	6.2+/-15.9	0,3,2200	115	86	96		4094,4211,4211,4211	4.5	1	9	dbSNP_134	96	0,8600		0,0,4300	yes	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	89,89,89,89	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign,benign,benign	1365/3136,1404/3070,1404/3096,1404/3175	79929004	3,13003	2203	4300	6503	SO:0001583	missense	23230	exon36			ATCTCACCATGGT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4211C>T	9.37:g.79929004C>T	ENSP00000353422:p.Thr1404Ile	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	94	62	0.659574	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782618	0.49891	6.81E-4	0.0	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47528	1.02;0.84;0.93;1.02	5.44	4.53	0.55603	.	0.285219	0.33290	N	0.005074	T	0.38799	0.1054	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.22414	0.002;0.019;0.069;0.033	B;B;B;B	0.27715	0.008;0.027;0.082;0.06	T	0.17930	-1.0353	10	0.37606	T	0.19	.	14.5567	0.68106	0.0:0.9276:0.0:0.0724	.	1365;1404;1404;1404	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	1404;1365;1404;1404	ENSP00000365821:T1404I;ENSP00000365823:T1365I;ENSP00000353422:T1404I;ENSP00000349985:T1404I	ENSP00000349985:T1404I	T	+	2	0	VPS13A	79118824	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.410000	0.44592	1.399000	0.46721	0.650000	0.86243	ACC	C|1.000;T|0.000	0.000	strong		0.388	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79929004	C	T	79929004	3	4	22	1	0	0	0	0	1	0	0	0	17186	507	18	2	4353	2	VPS13A	9	79929004	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53900	79929004	61284427	5161	10269										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79936579	79936579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaatggagaaagtttaaGtatggattatatccgaacca	9	4	0	1	rs73467962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:79936579G>A	ENST00000360280.3	+	44	6007	c.5747G>A	c.(5746-5748)aGt>aAt	p.S1916N	VPS13A_ENST00000357409.5_Missense_Mutation_p.S1916N|VPS13A_ENST00000376636.3_Missense_Mutation_p.S1877N|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1916N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1916					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAGTTTAAGTATGGATTAT	0.343													G|||	72	0.014377	0.0537	0.0014	5008	,	,		16144	0.0		0.0	False		,,,				2504	0.0				p.S1916N		Atlas-SNP	.											.	VPS13A	735	.	0			c.G5747A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER,ASN/SER	183,4223	118.4+/-156.1	3,177,2023	84	82	82		5630,5747,5747,5747	1.9	1	9	dbSNP_130	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	46,46,46,46	3,178,6322	AA,AG,GG		0.0116,4.1534,1.4147	benign,benign,benign,benign	1877/3136,1916/3070,1916/3096,1916/3175	79936579	184,12822	2203	4300	6503	SO:0001583	missense	23230	exon44			GTTTAAGTATGGA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5747G>A	9.37:g.79936579G>A	ENSP00000353422:p.Ser1916Asn	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	125	75	0.6	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	19|19	0.0086996336996337|0.0086996336996337	19|19	0.03861788617886179|0.03861788617886179	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	6.184|6.184	0.402055|0.402055	0.11696|0.11696	0.041534|0.041534	1.16E-4|1.16E-4	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.47869|.	1.0;0.83;0.91;1.0|.	5.8|5.8	1.87|1.87	0.25490|0.25490	.|.	0.321368|.	0.38111|.	N|.	0.001815|.	T|T	0.08044|0.08044	0.0201|0.0201	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.16802|.	0.004;0.005;0.019;0.019;0.019|.	B;B;B;B;B|.	0.18871|.	0.006;0.012;0.01;0.023;0.023|.	T|T	0.01899|0.01899	-1.1251|-1.1251	10|5	0.37606|.	T|.	0.19|.	.|.	5.1895|5.1895	0.15203|0.15203	0.3604:0.1441:0.4955:0.0|0.3604:0.1441:0.4955:0.0	.|.	168;1877;1916;1916;1916|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	N|I	1916;1877;1916;1916|169	ENSP00000365821:S1916N;ENSP00000365823:S1877N;ENSP00000353422:S1916N;ENSP00000349985:S1916N|.	ENSP00000349985:S1916N|.	S|V	+|+	2|1	0|0	VPS13A|VPS13A	79126399|79126399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	1.688000|1.688000	0.37690|0.37690	0.347000|0.347000	0.23924|0.23924	-0.373000|-0.373000	0.07131|0.07131	AGT|GTA	G|0.987;A|0.013	0.013	strong		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		A	79936579	G	A	79936579	3	1	22	1	0	0	0	0	1	0	0	0	17186	1029	36	2	5921	2	VPS13A	9	79936579	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7575	79936579	61276852	5162	10270										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79959197	79959197	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattgcgtctagataacgaGgtaagtttttttttcttttt	7	5	2	1	rs73449933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:79959197G>A	ENST00000360280.3	+	51	7415	c.7155G>A	c.(7153-7155)gaG>gaA	p.E2385E	VPS13A_ENST00000376634.4_Splice_Site_p.E2385E|VPS13A_ENST00000357409.5_Splice_Site_p.E2385E|VPS13A_ENST00000376636.3_Splice_Site_p.E2346E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2385					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGATAACGAGGTAAGTTTTT	0.289													G|||	71	0.0141773	0.053	0.0014	5008	,	,		13508	0.0		0.0	False		,,,				2504	0.0				p.E2385E		Atlas-SNP	.											.	VPS13A	735	.	0			c.G7155A						PASS	.	G	,,,	169,4237	101.2+/-139.8	3,163,2037	80	91	87		7038,7155,7155,7155	2.7	1	9	dbSNP_130	87	1,8585	1.2+/-3.3	0,1,4292	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	3,164,6329	AA,AG,GG		0.0116,3.8357,1.3085	,,,	2346/3136,2385/3070,2385/3096,2385/3175	79959197	170,12822	2203	4293	6496	SO:0001630	splice_region_variant	23230	exon51			TAACGAGGTAAGT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7155+1G>A	9.37:g.79959197G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	81	57	0.703704	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																			G|0.986;A|0.014	0.014	strong		0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Silent	A	79959197	G	A	79959197	5	1	22	1	0	0	0	0	0	0	1	0	17186	1014	35	2	7357	2	VPS13A	9	79959197	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22618	79959197	61254234	5163	10271										
GNA14	9630	hgsc.bcm.edu	37	chr9	80144099	80144099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaacccctttctgtcttcGtcgctgtaaccagacccatg	8	14	2	2	rs12346870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:80144099G>A	ENST00000341700.6	-	2	708	c.195C>T	c.(193-195)gaC>gaT	p.D65D	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	65					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTCTGTCTTCGTCGCTGTAAC	0.448													G|||	114	0.0227636	0.0809	0.0086	5008	,	,		21370	0.0		0.001	False		,,,				2504	0.0				p.D65D		Atlas-SNP	.											.	GNA14	50	.	0			c.C195T						PASS	.	G		273,4133	154.0+/-187.5	12,249,1942	339	317	324		195	-0.6	1	9	dbSNP_120	324	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GNA14	NM_004297.3		12,251,6240	AA,AG,GG		0.0233,6.1961,2.1144		65/356	80144099	275,12731	2203	4300	6503	SO:0001819	synonymous_variant	9630	exon2			GTCTTCGTCGCTG	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.195C>T	9.37:g.80144099G>A		Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	324	213	0.657407	NM_004297	B1ALW3	Silent	SNP	ENST00000341700.6	37	CCDS6657.1																																																																																			G|0.976;A|0.024	0.024	strong		0.448	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			A	80144099	G	A	80144099	2	1	22	1	0	0	0	0	0	0	0	1	6502	1136	40	1		1	GNA14	9	80144099	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	184902	80144099	61069332	5164	10272										
CEP78	84131	hgsc.bcm.edu	37	chr9	80881357	80881357	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttttgtttttccttctaGtttcagaaaattacaggtga	7	5	2	2	rs146563928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:80881357G>C	ENST00000424347.2	+	15	2086		c.e15-1		CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000376597.4_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTCCTTCTAGTTTCAGAAAA	0.378													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18264	0.0		0.001	False		,,,				2504	0.0				.		Atlas-SNP	.											.	CEP78	79	.	0			c.1849-1G>C						PASS	.	G	,	1,3681		0,1,1840	40	40	40		,	4	1	9	dbSNP_134	40	21,8139		0,21,4059	yes	splice-3,splice-3	CEP78	NM_001098802.1,NM_032171.1	,	0,22,5899	CC,CG,GG		0.2574,0.0272,0.1858	,	,	80881357	22,11820	1841	4080	5921	SO:0001630	splice_region_variant	84131	exon16			CTTCTAGTTTCAG	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1798-1G>C	9.37:g.80881357G>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	29	10	0.344828	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Splice_Site	SNP	ENST00000424347.2	37		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.72	2.618270	0.46736	2.72E-4	0.002574	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	6.07	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3193	0.26517	0.1296:0.1641:0.7063:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP78	80071177	0.987000	0.35691	0.999000	0.59377	0.943000	0.58893	1.038000	0.30254	2.885000	0.99019	0.655000	0.94253	.	G|0.999;C|0.001	0.001	strong		0.378	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	Intron	C	80881357	G	C	80881357	5	2	22	1	0	0	0	0	0	0	1	0	3262	1043	36	4	1910	4	CEP78	9	80881357	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	737258	80881357	60332074	5165	10273										
FLJ46321	389763	hgsc.bcm.edu	37	chr9	84607758	84607758	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttgcatggtccggagacTtcttcagacaaggatctgag	12	9	3	3	rs10867826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:84607758T>A	ENST00000344803.2	+	4	2420	c.2373T>A	c.(2371-2373)acT>acA	p.T791T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	791					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCCGGAGACTTCTTCAGACA	0.473													A|||	3126	0.624201	0.975	0.4294	5008	,	,		20246	0.7024		0.4473	False		,,,				2504	0.3896				p.T791T		Atlas-SNP	.											.	.	.	.	0			c.T2373A						PASS	.	A		3408,420		1525,358,31	106	102	103		2373	-4.7	0	9	dbSNP_120	103	3519,4719		754,2011,1354	no	coding-synonymous	FAM75D1	NM_001001670.2		2279,2369,1385	AA,AT,TT		42.7167,10.9718,42.5908		791/1577	84607758	6927,5139	1914	4119	6033	SO:0001819	synonymous_variant	389763	exon4			GGAGACTTCTTCA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2373T>A	9.37:g.84607758T>A		Somatic	375	2	0.00533333		WXS	Illumina HiSeq	Phase_I	490	307	0.626531	NM_001001670		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																			T|0.426;A|0.574	0.574	strong		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84607758	T	A	84607758	2	1	22	1	0	0	0	0	0	0	0	1	5932	1596	56	5		5	FLJ46321	9	84607758	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3726401	84607758	56605673	5166	10274										
GOLM1	51280	hgsc.bcm.edu	37	chr9	88650332	88650332	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccgtcggggatgacaagCtggtctcgctcagggccctc	14	13	2	1	rs61741197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:88650332C>G	ENST00000388712.3	-	8	1134	c.966G>C	c.(964-966)caG>caC	p.Q322H	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.Q322H	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	322					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GGATGACAAGCTGGTCTCGCT	0.652											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	249	0.0497204	0.1823	0.0115	5008	,	,		15263	0.0		0.0	False		,,,				2504	0.0				p.Q322H		Atlas-SNP	.											.	GOLM1	36	.	0			c.G966C						PASS	.	C	HIS/GLN,HIS/GLN	673,3733	284.6+/-277.7	59,555,1589	76	84	81		966,966	2.7	1	9	dbSNP_129	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GOLM1	NM_016548.3,NM_177937.2	24,24	59,556,5888	GG,GC,CC		0.0116,15.2746,5.1822	possibly-damaging,possibly-damaging	322/402,322/402	88650332	674,12332	2203	4300	6503	SO:0001583	missense	51280	exon8			GACAAGCTGGTCT	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.966G>C	9.37:g.88650332C>G	ENSP00000373364:p.Gln322His	Somatic	93	0	0	1261	WXS	Illumina HiSeq	Phase_I	104	71	0.682692	NM_016548	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	CCDS35054.1	90	0.04120879120879121	84	0.17073170731707318	6	0.016574585635359115	0	0.0	0	0.0	C	11.23	1.576207	0.28092	0.152746	1.16E-4	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.47177	0.85;0.85	4.54	2.7	0.31948	.	0.524964	0.19303	N	0.117587	T	0.00241	0.0007	L	0.56769	1.78	0.33372	P	0.42634399999999995	D	0.64830	0.994	D	0.64321	0.924	T	0.06625	-1.0816	9	0.40728	T	0.16	-0.0466	6.3297	0.21262	0.0:0.7825:0.0:0.2175	rs61741197	322	Q8NBJ4	GOLM1_HUMAN	H	322	ENSP00000373364:Q322H;ENSP00000373363:Q322H	ENSP00000373363:Q322H	Q	-	3	2	GOLM1	87840152	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	1.172000	0.31908	1.282000	0.44496	0.462000	0.41574	CAG	C|0.947;G|0.053	0.053	strong		0.652	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		G	88650332	C	G	88650332	3	3	22	1	0	0	0	0	1	0	0	0	6567	796	28	4	251	4	GOLM1	9	88650332	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4042574	88650332	52563099	5167	10275										
GOLM1	51280	hgsc.bcm.edu	37	chr9	88651370	88651370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccttgtggcacctctgtgTgtggcaggcctgctgcctgc	13	14	1	0	rs2297002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:88651370T>C	ENST00000388712.3	-	7	818	c.650A>G	c.(649-651)cAc>cGc	p.H217R	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.H217R	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	217			H -> R (in dbSNP:rs2297002).		nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.H217R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CACCTCTGTGTGTGGCAGGCC	0.577													C|||	1148	0.229233	0.4546	0.0879	5008	,	,		18134	0.3492		0.005	False		,,,				2504	0.1319				p.H217R		Atlas-SNP	.											GOLM1,NS,carcinoma,0,1	GOLM1	36	1	1	Substitution - Missense(1)	stomach(1)	c.A650G						PASS	.	C	ARG/HIS,ARG/HIS	1736,2670	647.9+/-398.6	351,1034,818	105	90	95		650,650	-3.2	0	9	dbSNP_100	95	49,8551	817.1+/-406.9	0,49,4251	yes	missense,missense	GOLM1	NM_016548.3,NM_177937.2	29,29	351,1083,5069	CC,CT,TT		0.5698,39.4008,13.7244	benign,benign	217/402,217/402	88651370	1785,11221	2203	4300	6503	SO:0001583	missense	51280	exon7			TCTGTGTGTGGCA	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.650A>G	9.37:g.88651370T>C	ENSP00000373364:p.His217Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	112	73	0.651786	NM_016548	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	CCDS35054.1	476	0.21794871794871795	203	0.41260162601626016	31	0.0856353591160221	237	0.4143356643356643	5	0.006596306068601583	C	3.673	-0.067038	0.07273	0.394008	0.005698	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.40476	1.03;1.03	3.93	-3.2	0.05156	.	1.770890	0.02390	N	0.079638	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	9	0.25106	T	0.35	-0.044	8.6564	0.34066	0.0:0.0925:0.5461:0.3614	rs2297002;rs52804982;rs57362226;rs2297002	217	Q8NBJ4	GOLM1_HUMAN	R	217	ENSP00000373364:H217R;ENSP00000373363:H217R	ENSP00000373363:H217R	H	-	2	0	GOLM1	87841190	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.416000	0.07097	-1.017000	0.03367	-1.163000	0.01768	CAC	T|0.830;C|0.170	0.170	strong		0.577	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		C	88651370	T	C	88651370	3	2	22	1	0	0	0	0	1	0	0	0	6567	1696	59	2	571	2	GOLM1	9	88651370	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1038	88651370	52562061	5168	10276										
ZCCHC6	79670	hgsc.bcm.edu	37	chr9	88937852	88937854	+	In_Frame_Del	DEL	TTT	TTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagactgatccacaggtgaaTttttttcttcacatacattt					rs58050565|rs77621374|rs200402481|rs397759922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:88937852_88937854delTTT	ENST00000375963.3	-	13	2983_2985	c.2811_2813delAAA	c.(2809-2814)aaaaat>aat	p.K937del	ZCCHC6_ENST00000277141.6_In_Frame_Del_p.K226del|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_In_Frame_Del_p.K814del|ZCCHC6_ENST00000375961.2_In_Frame_Del_p.K937del	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	937				Missing (in Ref. 1; CAI45944/CAH56219). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.N938delN(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CACAGGTGAATTTTTTTCTTCAC	0.345														2624	0.523962	0.562	0.4899	5008	,	,		19309	0.4792		0.5417	False		,,,				2504	0.5245				p.938_938del		Pindel,Atlas-Indel	.											.	ZCCHC6	105	.	1	Deletion - In frame(1)	large_intestine(1)	c.2812_2814del						PASS	.		,,	2377,1887		665,1047,420					,,	4.1	1		dbSNP_129	62	4461,3793		1183,2095,849	no	coding,coding,coding	ZCCHC6	NM_024617.3,NM_001185074.1,NM_001185059.1	,,	1848,3142,1269	A1A1,A1R,RR		45.9535,44.2542,45.3747	,,	,,		6838,5680				SO:0001651	inframe_deletion	79670	exon13			.	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2811_2813delAAA	9.37:g.88937855_88937857delTTT	ENSP00000365130:p.Lys937del	Somatic	230	.	.		WXS	Illumina HiSeq	Phase_I	210	62	0.295	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	In_Frame_Del	DEL	ENST00000375963.3	37	CCDS35057.1																																																																																			.	.	weak		0.345	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		-	88937854	TTT	-	88937852	7	5	22	1	0	1	0	1	0	0	0	0	17589	1493	52	0	1734	0	ZCCHC6	9	88937852	In_Frame_Del	DEL	TTT	TCGA-G8-6324-01A-11D-2210-10	286482	88937852	52275579	5169	10277										
ZCCHC6	79670	hgsc.bcm.edu	37	chr9	88959938	88959938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatgatacgtttaatttcCagcctctgttccaagttctc	5	12	2	1	rs791323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:88959938C>T	ENST00000375963.3	-	5	1123	c.951G>A	c.(949-951)ctG>ctA	p.L317L	ZCCHC6_ENST00000375961.2_Silent_p.L317L|ZCCHC6_ENST00000375947.1_Silent_p.L150L|ZCCHC6_ENST00000375960.2_Silent_p.L317L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	317					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTTTAATTTCCAGCCTCTGTT	0.383													T|||	3102	0.619409	0.8253	0.5288	5008	,	,		19149	0.5308		0.5447	False		,,,				2504	0.5736				p.L317L		Atlas-SNP	.											ZCCHC6,colon,carcinoma,0,1	ZCCHC6	105	1	0			c.G951A						PASS	.	T	,,	3447,959	362.6+/-316.2	1346,755,102	143	130	134		951,951,951	2.7	1	9	dbSNP_86	134	4670,3930	548.2+/-385.3	1249,2172,879	no	coding-synonymous,coding-synonymous,coding-synonymous	ZCCHC6	NM_001185059.1,NM_001185074.1,NM_024617.3	,,	2595,2927,981	TT,TC,CC		45.6977,21.7658,37.5903	,,	317/1496,317/1260,317/1496	88959938	8117,4889	2203	4300	6503	SO:0001819	synonymous_variant	79670	exon5			AATTTCCAGCCTC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.951G>A	9.37:g.88959938C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	187	62	0.331551	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																			C|0.379;N|0.000	.	strong		0.383	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		T	88959938	C	T	88959938	2	4	22	1	0	0	0	0	0	0	0	1	17589	581	21	2		2	ZCCHC6	9	88959938	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22086	88959938	52253493	5170	10278										
C9orf79	286234	hgsc.bcm.edu	37	chr9	90500189	90500189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctccacccgactccagcCtggctggacttcagtgtggc	10	17	1	0	rs77127003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:90500189C>G	ENST00000325643.5	+	4	853	c.787C>G	c.(787-789)Ctg>Gtg	p.L263V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	263	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGACTCCAGCCTGGCTGGACT	0.617													.|||	253	0.0505192	0.0938	0.0922	5008	,	,		17918	0.001		0.0308	False		,,,				2504	0.0337				p.L263V		Atlas-SNP	.											.	.	.	.	0			c.C787G						PASS	.	C	VAL/LEU	428,3978		22,384,1797	62	66	64		787	-3.3	0	9	dbSNP_131	64	305,8295		5,295,4000	no	missense	C9orf79	NM_178828.4	32	27,679,5797	GG,GC,CC		3.5465,9.714,5.6359	benign	263/1446	90500189	733,12273	2203	4300	6503	SO:0001583	missense	286234	exon4			TCCAGCCTGGCTG	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.787C>G	9.37:g.90500189C>G	ENSP00000322640:p.Leu263Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	123	82	0.666667	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	104	0.047619047619047616	47	0.09552845528455285	33	0.09116022099447514	0	0.0	24	0.0316622691292876	.	3.872	-0.027620	0.07589	0.09714	0.035465	ENSG00000177992	ENST00000325643	T	0.05513	3.43	1.98	-3.34	0.04943	.	.	.	.	.	T	0.00178	0.0005	M	0.64404	1.975	0.09310	N	1	B	0.32573	0.376	B	0.28784	0.094	T	0.32107	-0.9919	9	0.51188	T	0.08	.	0.2178	0.00164	0.2083:0.2735:0.2064:0.3118	.	263	Q6ZUB1	CI079_HUMAN	V	263	ENSP00000322640:L263V	ENSP00000322640:L263V	L	+	1	2	C9orf79	89690009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.046000	0.14035	-0.914000	0.03827	-0.519000	0.04390	CTG	C|0.948;G|0.052	0.052	strong		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90500189	C	G	90500189	3	3	22	1	0	0	0	0	1	0	0	0	2497	680	24	4	801	4	C9orf79	9	90500189	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1540251	90500189	50713242	5171	10279										
C9orf79	286234	hgsc.bcm.edu	37	chr9	90501514	90501514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccggaaggttctctgaCaaggggtgcttagggtccaa	14	9	1	1	rs4076794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:90501514C>G	ENST00000325643.5	+	4	2178	c.2112C>G	c.(2110-2112)gaC>gaG	p.D704E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	704			D -> E (in dbSNP:rs4076794). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTTCTCTGACAAGGGGTGCT	0.602													.|||	1492	0.297923	0.6142	0.2882	5008	,	,		18485	0.253		0.1103	False		,,,				2504	0.1166				p.D704E		Atlas-SNP	.											C9orf79,middle_lobe,carcinoma,+1,2	.	.	2	0			c.C2112G						PASS	.	G	GLU/ASP	2348,2058	555.7+/-379.3	619,1110,474	50	64	59		2112	-3.8	0	9	dbSNP_108	59	812,7786	770.1+/-407.7	38,736,3525	yes	missense	C9orf79	NM_178828.4	45	657,1846,3999	GG,GC,CC		9.4441,46.709,24.3002	benign	704/1446	90501514	3160,9844	2203	4299	6502	SO:0001583	missense	286234	exon4			CTCTGACAAGGGG	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2112C>G	9.37:g.90501514C>G	ENSP00000322640:p.Asp704Glu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	72	48	0.666667	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	632	0.2893772893772894	305	0.6199186991869918	95	0.26243093922651933	141	0.2465034965034965	91	0.12005277044854881	g	0.010	-1.758496	0.00657	0.53291	0.094441	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06218	3.33	2.47	-3.84	0.04256	.	8.130670	0.00166	N	0.000000	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.45542	-0.9254	9	0.02654	T	1	.	1.9593	0.03383	0.2337:0.4335:0.1834:0.1494	rs4076794;rs4076794	704;356	Q6ZUB1;Q8NA33	CI079_HUMAN;.	E	704;356	ENSP00000322640:D704E	ENSP00000322640:D704E	D	+	3	2	C9orf79	89691334	0.066000	0.20996	0.000000	0.03702	0.003000	0.03518	0.004000	0.13106	-1.590000	0.01623	-0.224000	0.12420	GAC	C|0.751;G|0.249	0.249	strong		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90501514	C	G	90501514	3	3	22	1	0	0	0	0	1	0	0	0	2497	477	17	4	2126	4	C9orf79	9	90501514	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1325	90501514	50711917	5172	10280										
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534206	90534206	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtcatcttgtctcccagTgtccaacagggcggaggggg	15	11	3	0	rs2481989		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:90534206T>C	ENST00000602681.1	+	0	952							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTCTCCCAGTGTCCAACAGG	0.582																																					p.C76R		Atlas-SNP	.											.	.	.	.	0			c.T226C						PASS	.						153	124	133					9																	90534206		692	1591	2283			441452	exon2			TCCCAGTGTCCAA	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534206T>C		Somatic	861	2	0.00232288		WXS	Illumina HiSeq	Phase_I	658	157	0.238602	NM_001145124		Missense_Mutation	SNP	ENST00000602681.1	37																																																																																				.	.	weak		0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		C	90534206	T	C	90534206	1	2	22	0	1	0	0	0	0	0	0	0	5623	1696	59	2		2	FAM75C1	9	90534206	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32692	90534206	50679225	5173	10281										
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90537856	90537856	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagaaacagcctccttcaAtaagccactttggagaaaac	6	11	1	2	rs512437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:90537856A>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCTCCTTCAATAAGCCACTT	0.443													.|||	1468	0.293131	0.1611	0.3271	5008	,	,		15140	0.1438		0.492	False		,,,				2504	0.3967				p.I1012V		Atlas-SNP	.											.	.	.	.	0			c.A3034G						PASS	.						20	32	28					9																	90537856		677	1431	2108			441452	exon4			CCTTCAATAAGCC	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537856A>G		Somatic	840	0	0		WXS	Illumina HiSeq	Phase_I	509	501	0.984283	NM_001145124		Missense_Mutation	SNP	ENST00000602681.1	37																																																																																				A|0.767;G|0.233	0.233	strong		0.443	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		G	90537856	A	G	90537856	1	3	22	0	1	0	0	0	0	0	0	0	5623	101	4	2		2	FAM75C1	9	90537856	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3650	90537856	50675575	5174	10282										
SEMA4D	10507	hgsc.bcm.edu	37	chr9	91978397	91978397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgctccccagccacagccCtccaggcagagagctctctg	10	18	1	1	rs13295305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:91978397C>T	ENST00000420987.1	-	19	2584	c.2138G>A	c.(2137-2139)aGg>aAg	p.R713K	SEMA4D_ENST00000455551.2_Missense_Mutation_p.R713K|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R713K|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R713K|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R98K|SEMA4D_ENST00000469653.1_5'UTR	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AGCCACAGCCCTCCAGGCAGA	0.627													C|||	788	0.157348	0.025	0.366	5008	,	,		17146	0.2331		0.1203	False		,,,				2504	0.1483				p.R713K		Atlas-SNP	.											.	SEMA4D	81	.	0			c.G2138A						PASS	.	C	LYS/ARG	184,4222	117.5+/-155.4	5,174,2024	59	64	62		2138	0.8	0.5	9	dbSNP_121	62	1147,7453	235.4+/-268.0	84,979,3237	yes	missense	SEMA4D	NM_001142287.1	26	89,1153,5261	TT,TC,CC		13.3372,4.1761,10.2337		713/739	91978397	1331,11675	2203	4300	6503	SO:0001583	missense	10507	exon20			ACAGCCCTCCAGG	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000420987.1:c.2138G>A	9.37:g.91978397C>T	ENSP00000391733:p.Arg713Lys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	94	58	0.617021	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000420987.1	37	CCDS47991.1	345	0.15796703296703296	21	0.042682926829268296	116	0.32044198895027626	100	0.17482517482517482	108	0.1424802110817942	C	10.11	1.260965	0.23051	0.041761	0.133372	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000420101;ENST00000455551;ENST00000343780	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.99	0.793	0.18632	.	0.437294	0.20662	N	0.088017	T	0.00012	0.0000	.	.	.	0.33217	P	0.44578799999999996	B	0.11235	0.004	B	0.12156	0.007	T	0.47446	-0.9117	8	0.13470	T	0.59	.	8.526	0.33304	0.0:0.6353:0.0:0.3647	rs13295305	713	Q92854-2	.	K	713;713;98;713;713	ENSP00000344923:R713K;ENSP00000391733:R713K;ENSP00000411981:R713K;ENSP00000343418:R713K	ENSP00000344923:R713K	R	-	2	0	SEMA4D	91168217	0.113000	0.22115	0.486000	0.27416	0.819000	0.46315	0.259000	0.18405	0.285000	0.22329	0.561000	0.74099	AGG	C|0.880;T|0.120	0.120	strong		0.627	SEMA4D-203	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402418.2	NM_006378		T	91978397	C	T	91978397	3	4	22	1	0	0	0	0	1	0	0	0	14034	681	24	2	86	2	SEMA4D	9	91978397	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1440541	91978397	49235034	5175	10283										
SYK	6850	hgsc.bcm.edu	37	chr9	93606309	93606309	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctttatttgctgcgccaGagccgcaactacctgggtgg	14	11	0	1	rs35758162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:93606309G>A	ENST00000375754.4	+	2	277	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Silent_p.Q43Q|SYK_ENST00000375747.1_Silent_p.Q43Q|SYK_ENST00000375746.1_Silent_p.Q43Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	43	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCTGCGCCAGAGCCGCAACT	0.612			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								G|||	556	0.111022	0.1067	0.1138	5008	,	,		18957	0.0159		0.168	False		,,,				2504	0.1544				p.Q43Q		Atlas-SNP	.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK	132	.	0			c.G129A						PASS	.	G	,,,	529,3877	232.6+/-246.1	36,457,1710	60	41	48		129,129,129,129	4.1	1	9	dbSNP_126	48	1795,6805	313.7+/-311.4	181,1433,2686	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	217,1890,4396	AA,AG,GG		20.8721,12.0064,17.8687	,,,	43/613,43/636,43/613,43/636	93606309	2324,10682	2203	4300	6503	SO:0001819	synonymous_variant	6850	exon2			GCGCCAGAGCCGC	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.129G>A	9.37:g.93606309G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	88	32	0.363636	NM_003177		Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																			G|0.847;A|0.153	0.153	strong		0.612	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			A	93606309	G	A	93606309	2	1	22	1	0	0	0	0	0	0	0	1	15435	933	33	2		2	SYK	9	93606309	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1627912	93606309	47607122	5176	10284										
ROR2	4920	hgsc.bcm.edu	37	chr9	94499797	94499797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccatcctcgtggtaatcAtccctggtaagaaacacaca	6	13	1	1	rs16907720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:94499797A>G	ENST00000375708.3	-	5	696	c.498T>C	c.(496-498)gaT>gaC	p.D166D	ROR2_ENST00000375715.1_Silent_p.D26D|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	166					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTAATCATCCCTGGTAA	0.512													A|||	361	0.0720847	0.1959	0.0504	5008	,	,		16550	0.0		0.0537	False		,,,				2504	0.0133				p.D166D		Atlas-SNP	.											.	ROR2	167	.	0			c.T498C						PASS	.	A		757,3649	309.1+/-290.9	63,631,1509	80	73	75		498	-4.9	0.8	9	dbSNP_123	75	573,8027	153.7+/-208.1	19,535,3746	no	coding-synonymous	ROR2	NM_004560.3		82,1166,5255	GG,GA,AA		6.6628,17.1811,10.226		166/944	94499797	1330,11676	2203	4300	6503	SO:0001819	synonymous_variant	4920	exon5			GTAATCATCCCTG	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.498T>C	9.37:g.94499797A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	38	26	0.684211	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																			A|0.902;G|0.098	0.098	strong		0.512	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			G	94499797	A	G	94499797	2	3	22	1	0	0	0	0	0	0	0	1	13527	214	8	2		2	ROR2	9	94499797	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	893488	94499797	46713634	5177	10285										
NOL8	55035	hgsc.bcm.edu	37	chr9	95072907	95072907	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcttcagaatcagattcGtcatcatcactgctatcaaa	4	11	8	2	rs15717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95072907G>C	ENST00000535387.1	-	7	2408	c.2409C>G	c.(2407-2409)gaC>gaG	p.D803E	NOL8_ENST00000545558.1_Missense_Mutation_p.D841E|NOL8_ENST00000358855.4_Missense_Mutation_p.D773E|NOL8_ENST00000542053.1_Missense_Mutation_p.D773E|NOL8_ENST00000442668.2_Missense_Mutation_p.D841E					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AATCAGATTCGTCATCATCAC	0.378													C|||	356	0.0710863	0.1188	0.0533	5008	,	,		22396	0.0446		0.0239	False		,,,				2504	0.0951				p.D841E		Atlas-SNP	.											.	NOL8	118	.	0			c.C2523G						PASS	.	C	GLU/ASP	398,3486		18,362,1562	151	140	144		2523	-2	0.1	9	dbSNP_52	144	350,7940		12,326,3807	yes	missense	NOL8	NM_017948.5	45	30,688,5369	CC,CG,GG		4.222,10.2472,6.1442	benign	841/1168	95072907	748,11426	1942	4145	6087	SO:0001583	missense	55035	exon9			AGATTCGTCATCA	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2409C>G	9.37:g.95072907G>C	ENSP00000441300:p.Asp803Glu	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	161	91	0.565217	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	124	0.056776556776556776	67	0.13617886178861788	20	0.055248618784530384	20	0.03496503496503497	17	0.022427440633245383	C	0.796	-0.757244	0.03019	0.102472	0.04222	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.9	-2.04	0.07343	.	0.142678	0.64402	N	0.000007	T	0.00039	0.0001	N	0.00450	-1.49	0.58432	P	5.999999999950489E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17653	-1.0362	9	0.02654	T	1	-9.3841	2.5268	0.04693	0.0919:0.2999:0.2696:0.3386	rs15717;rs2236342;rs7025559;rs60708680;rs15717	773;841	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	E	841;805;773;841;803;773;841	ENSP00000401177:D841E;ENSP00000351723:D773E;ENSP00000441140:D841E;ENSP00000441300:D803E;ENSP00000440709:D773E;ENSP00000414112:D841E	ENSP00000351723:D773E	D	-	3	2	NOL8	94112728	0.522000	0.26266	0.089000	0.20774	0.635000	0.38103	-0.115000	0.10741	-0.629000	0.05575	-0.752000	0.03492	GAC	G|0.940;C|0.060	0.060	strong		0.378	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95072907	G	C	95072907	3	2	22	1	0	0	0	0	1	0	0	0	10527	1136	40	4	1016	4	NOL8	9	95072907	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	573110	95072907	46140524	5178	10286										
NOL8	55035	hgsc.bcm.edu	37	chr9	95076665	95076665	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcttatctttagcactcaCatctgacgaattactaatag	5	9	3	1	rs2236344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95076665C>G	ENST00000535387.1	-	6	2241	c.2242G>C	c.(2242-2244)Gtg>Ctg	p.V748L	NOL8_ENST00000358855.4_Missense_Mutation_p.V680L|NOL8_ENST00000442668.2_Missense_Mutation_p.V748L|NOL8_ENST00000545558.1_Missense_Mutation_p.V748L|NOL8_ENST00000542053.1_Missense_Mutation_p.V680L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTAGCACTCACATCTGACGAA	0.433													G|||	354	0.0706869	0.1188	0.0533	5008	,	,		21015	0.0446		0.0239	False		,,,				2504	0.093				p.V748L		Atlas-SNP	.											.	NOL8	118	.	0			c.G2242C						PASS	.	G	LEU/VAL	405,3465		18,369,1548	91	82	85		2242	0.8	0	9	dbSNP_98	85	352,7962		12,328,3817	yes	missense	NOL8	NM_017948.5	32	30,697,5365	GG,GC,CC		4.2338,10.4651,6.2131	benign	748/1168	95076665	757,11427	1935	4157	6092	SO:0001583	missense	55035	exon7			CACTCACATCTGA	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2242G>C	9.37:g.95076665C>G	ENSP00000441300:p.Val748Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	99	56	0.565657	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	124	0.056776556776556776	67	0.13617886178861788	20	0.055248618784530384	20	0.03496503496503497	17	0.022427440633245383	G	0.058	-1.230797	0.01518	0.104651	0.042338	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.83	0.776	0.18532	.	1.179860	0.06090	N	0.663456	T	0.00241	0.0007	L	0.51422	1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.11203	-1.0597	9	0.23302	T	0.38	1.1273	2.3112	0.04186	0.2858:0.3908:0.195:0.1284	rs2236344;rs61437291;rs2236344	748	Q76FK4	NOL8_HUMAN	L	748;750;680;748;748;680;748	ENSP00000401177:V748L;ENSP00000351723:V680L;ENSP00000441140:V748L;ENSP00000441300:V748L;ENSP00000440709:V680L;ENSP00000414112:V748L	ENSP00000351723:V680L	V	-	1	0	NOL8	94116486	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.436000	0.06922	-0.410000	0.07542	-1.164000	0.01763	GTG	C|0.939;G|0.061	0.061	strong		0.433	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		G	95076665	C	G	95076665	3	3	22	1	0	0	0	0	1	0	0	0	10527	478	17	4	1305	4	NOL8	9	95076665	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3758	95076665	46136766	5179	10287										
NOL8	55035	hgsc.bcm.edu	37	chr9	95076833	95076833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctgtctttgtcaaagcCtatgttgtgagtctttgcac	10	9	3	1	rs373764183		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95076833C>G	ENST00000535387.1	-	6	2073	c.2074G>C	c.(2074-2076)Ggc>Cgc	p.G692R	NOL8_ENST00000358855.4_Missense_Mutation_p.G624R|NOL8_ENST00000442668.2_Missense_Mutation_p.G692R|NOL8_ENST00000545558.1_Missense_Mutation_p.G692R|NOL8_ENST00000542053.1_Missense_Mutation_p.G624R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTGTCAAAGCCTATGTTGTGA	0.433																																					p.G692R		Atlas-SNP	.											.	NOL8	118	.	0			c.G2074C						PASS	.	C	ARG/GLY	1,3761		0,1,1880	37	33	35		2074	1.5	0	9		35	0,8226		0,0,4113	no	missense	NOL8	NM_017948.5	125	0,1,5993	GG,GC,CC		0.0,0.0266,0.0083	probably-damaging	692/1168	95076833	1,11987	1881	4113	5994	SO:0001583	missense	55035	exon7			CAAAGCCTATGTT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2074G>C	9.37:g.95076833C>G	ENSP00000441300:p.Gly692Arg	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	97	65	0.670103	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582405	0.28180	2.66E-4	0.0	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.48	1.52	0.23074	.	1.217900	0.05599	N	0.576075	T	0.33556	0.0867	L	0.29908	0.895	0.09310	N	1	P	0.41265	0.744	B	0.39068	0.289	T	0.21793	-1.0235	10	0.52906	T	0.07	0.5806	1.5277	0.02529	0.1481:0.4632:0.1439:0.2448	.	692	Q76FK4	NOL8_HUMAN	R	692;694;624;692;692;624;692	ENSP00000401177:G692R;ENSP00000351723:G624R;ENSP00000441140:G692R;ENSP00000441300:G692R;ENSP00000440709:G624R;ENSP00000414112:G692R	ENSP00000351723:G624R	G	-	1	0	NOL8	94116654	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.191000	0.17076	0.018000	0.15052	0.561000	0.74099	GGC	.	.	weak		0.433	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		G	95076833	C	G	95076833	3	3	22	1	0	0	0	0	1	0	0	0	10527	681	24	4	1473	4	NOL8	9	95076833	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168	95076833	46136598	5180	10288										
NOL8	55035	hgsc.bcm.edu	37	chr9	95077498	95077498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcattatactcctcacctCcttcagagtcagctaattct	5	13	4	1	rs58545014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95077498C>T	ENST00000535387.1	-	6	1408	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	NOL8_ENST00000358855.4_Missense_Mutation_p.G402E|NOL8_ENST00000442668.2_Missense_Mutation_p.G470E|NOL8_ENST00000545558.1_Missense_Mutation_p.G470E|NOL8_ENST00000542053.1_Missense_Mutation_p.G402E					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTCCTCACCTCCTTCAGAGTC	0.433													C|||	166	0.033147	0.1172	0.0159	5008	,	,		20446	0.0		0.0	False		,,,				2504	0.0				p.G470E		Atlas-SNP	.											.	NOL8	118	.	0			c.G1409A						PASS	.	C	GLU/GLY	379,3445		15,349,1548	67	62	63		1409	-2.3	0	9	dbSNP_129	63	9,8283		0,9,4137	yes	missense	NOL8	NM_017948.5	98	15,358,5685	TT,TC,CC		0.1085,9.9111,3.2024	benign	470/1168	95077498	388,11728	1912	4146	6058	SO:0001583	missense	55035	exon7			TCACCTCCTTCAG	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1409G>A	9.37:g.95077498C>T	ENSP00000441300:p.Gly470Glu	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	161	118	0.732919	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	73	0.033424908424908424	67	0.13617886178861788	6	0.016574585635359115	0	0.0	0	0.0	C	2.889	-0.230150	0.05983	0.099111	0.001085	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.15256	2.71;2.7;2.71;2.93;2.7;2.44	5.69	-2.34	0.06704	.	1.014810	0.07869	N	0.967526	T	0.00039	0.0001	N	0.16656	0.425	0.80722	P	0.0	B	0.15141	0.012	B	0.11329	0.006	T	0.41124	-0.9526	9	0.10377	T	0.69	-5.5238	1.3463	0.02164	0.171:0.3053:0.1593:0.3644	rs58545014;rs61740235	470	Q76FK4	NOL8_HUMAN	E	470;472;402;470;470;402;470	ENSP00000401177:G470E;ENSP00000351723:G402E;ENSP00000441140:G470E;ENSP00000441300:G470E;ENSP00000440709:G402E;ENSP00000414112:G470E	ENSP00000351723:G402E	G	-	2	0	NOL8	94117319	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-1.648000	0.01995	-0.302000	0.08869	-0.345000	0.07892	GGA	C|0.972;T|0.028	0.028	strong		0.433	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		T	95077498	C	T	95077498	3	4	22	1	0	0	0	0	1	0	0	0	10527	855	30	2	2138	2	NOL8	9	95077498	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	665	95077498	46135933	5181	10289										
NOL8	55035	hgsc.bcm.edu	37	chr9	95078413	95078413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtattttgagggatcatatTtgatgatgttacgcaagtca	10	4	2	3	rs41305617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95078413T>C	ENST00000535387.1	-	6	493	c.494A>G	c.(493-495)aAa>aGa	p.K165R	NOL8_ENST00000545558.1_Missense_Mutation_p.K165R|NOL8_ENST00000358855.4_Missense_Mutation_p.K97R|NOL8_ENST00000542053.1_Missense_Mutation_p.K97R|NOL8_ENST00000442668.2_Missense_Mutation_p.K165R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGGATCATATTTGATGATGTT	0.363													T|||	47	0.00938498	0.0023	0.0144	5008	,	,		20765	0.0		0.0338	False		,,,				2504	0.0				p.K165R		Atlas-SNP	.											.	NOL8	118	.	0			c.A494G						PASS	.	T	ARG/LYS	16,3702		0,16,1843	96	85	89		494	5.1	1	9	dbSNP_127	89	231,7979		3,225,3877	yes	missense	NOL8	NM_017948.5	26	3,241,5720	CC,CT,TT		2.8136,0.4303,2.0708	probably-damaging	165/1168	95078413	247,11681	1859	4105	5964	SO:0001583	missense	55035	exon7			TCATATTTGATGA	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.494A>G	9.37:g.95078413T>C	ENSP00000441300:p.Lys165Arg	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	242	91	0.376033	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	33	0.01510989010989011	2	0.0040650406504065045	7	0.019337016574585635	0	0.0	24	0.0316622691292876	T	21.3	4.129430	0.77549	0.004303	0.028136	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807	T;T;T;T;T;T;T;T	0.54479	2.12;2.06;2.12;2.32;2.06;1.84;0.57;0.66	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	L	0.39147	1.195	0.47659	D	0.999482	D	0.89917	1.0	D	0.87578	0.998	T	0.60949	-0.7161	10	0.87932	D	0	-23.0153	15.1284	0.72500	0.0:0.0:0.0:1.0	rs41305617	165	Q76FK4	NOL8_HUMAN	R	165;167;97;165;165;97;165;165;165;97;97	ENSP00000401177:K165R;ENSP00000351723:K97R;ENSP00000441140:K165R;ENSP00000441300:K165R;ENSP00000440709:K97R;ENSP00000414112:K165R;ENSP00000412471:K165R;ENSP00000390143:K165R	ENSP00000351723:K97R	K	-	2	0	NOL8	94118234	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.001000	0.76297	2.021000	0.59480	0.528000	0.53228	AAA	T|0.986;C|0.014	0.014	strong		0.363	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95078413	T	C	95078413	3	2	22	1	0	0	0	0	1	0	0	0	10527	1841	64	2	3053	2	NOL8	9	95078413	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	915	95078413	46135018	5182	10290										
NOL8	55035	hgsc.bcm.edu	37	chr9	95081569	95081569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactcctcctgtcttttcTaacaagttggcgttacctgt	6	13	2	0	rs16908298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95081569T>C	ENST00000535387.1	-	4	350	c.351A>G	c.(349-351)ttA>ttG	p.L117L	NOL8_ENST00000545558.1_Silent_p.L117L|NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000358855.4_Silent_p.L49L|NOL8_ENST00000542053.1_Silent_p.L49L|NOL8_ENST00000442668.2_Silent_p.L117L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTGTCTTTTCTAACAAGTTGG	0.428													T|||	166	0.033147	0.1172	0.0159	5008	,	,		20037	0.0		0.0	False		,,,				2504	0.0				p.L117L		Atlas-SNP	.											.	NOL8	118	.	0			c.A351G						PASS	.	T		382,3474		15,352,1561	183	167	172		351	-3.3	0	9	dbSNP_123	172	9,8229		0,9,4110	no	coding-synonymous	NOL8	NM_017948.5		15,361,5671	CC,CT,TT		0.1092,9.9066,3.233		117/1168	95081569	391,11703	1928	4119	6047	SO:0001819	synonymous_variant	55035	exon5			CTTTTCTAACAAG	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.351A>G	9.37:g.95081569T>C		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	241	156	0.647303	NM_017948		Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																			T|0.969;C|0.031	0.031	strong		0.428	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95081569	T	C	95081569	2	2	22	1	0	0	0	0	0	0	0	1	10527	1519	53	3		3	NOL8	9	95081569	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3156	95081569	46131862	5183	10291										
ECM2	1842	hgsc.bcm.edu	37	chr9	95267938	95267938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcttcactgagattgttTccttccaattctaaggtgac	8	9	2	2	rs35161698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95267938T>C	ENST00000344604.5	-	7	1490	c.1341A>G	c.(1339-1341)ggA>ggG	p.G447G	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.G425G	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	447					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TGAGATTGTTTCCTTCCAATT	0.323													T|||	117	0.0233626	0.0802	0.0159	5008	,	,		15033	0.0		0.0	False		,,,				2504	0.0				p.G447G		Atlas-SNP	.											.	ECM2	147	.	0			c.A1341G						PASS	.	T	,,,	294,4112	144.2+/-179.2	6,282,1915	80	85	83		,1275,1275,1341	5.8	1	9	dbSNP_126	83	8,8592	5.7+/-21.5	0,8,4292	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	ECM2,CENPP	NM_001012267.1,NM_001197295.1,NM_001197296.1,NM_001393.3	,,,	6,290,6207	CC,CT,TT		0.093,6.6727,2.322	,,,	,425/678,425/644,447/700	95267938	302,12704	2203	4300	6503	SO:0001819	synonymous_variant	1842	exon7			ATTGTTTCCTTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1341A>G	9.37:g.95267938T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	99	62	0.626263	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	CCDS6698.1																																																																																			T|0.978;C|0.022	0.022	strong		0.323	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		C	95267938	T	C	95267938	2	2	22	1	0	0	0	0	0	0	0	1	4898	1770	62	2		2	ECM2	9	95267938	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	186369	95267938	45945493	5184	10292										
IPPK	64768	hgsc.bcm.edu	37	chr9	95411816	95411816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattaggaaggcacatagcGtaaccactgagagtatccag	10	8	0	1	rs16908484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95411816G>A	ENST00000287996.3	-	5	609	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	111					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCACATAGCGTAACCACTGA	0.512													G|||	59	0.0117812	0.0424	0.0043	5008	,	,		19264	0.0		0.0	False		,,,				2504	0.0				p.Y111Y		Atlas-SNP	.											.	IPPK	34	.	0			c.C333T						PASS	.	G		156,4250	106.0+/-144.5	1,154,2048	165	127	140		333	-1.9	1	9	dbSNP_123	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IPPK	NM_022755.5		1,155,6347	AA,AG,GG		0.0116,3.5406,1.2071		111/492	95411816	157,12849	2203	4300	6503	SO:0001819	synonymous_variant	64768	exon5			CATAGCGTAACCA	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.333C>T	9.37:g.95411816G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	116	69	0.594828	NM_022755	Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	CCDS6699.1																																																																																			G|0.986;A|0.014	0.014	strong		0.512	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		A	95411816	G	A	95411816	2	1	22	1	0	0	0	0	0	0	0	1	7801	1140	40	1		1	IPPK	9	95411816	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	143878	95411816	45801615	5185	10293										
FGD3	89846	hgsc.bcm.edu	37	chr9	95766336	95766336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccagaagtcatcatgggCatattctctaacatctcctc	5	14	4	1	rs201073654		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95766336C>T	ENST00000375482.3	+	5	1093	c.597C>T	c.(595-597)ggC>ggT	p.G199G	FGD3_ENST00000416701.2_Silent_p.G199G|FGD3_ENST00000337352.6_Silent_p.G199G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	199	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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCATCATGGGCATATTCTCTA	0.582											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G199G		Atlas-SNP	.											.	FGD3	116	.	0			c.C597T						PASS	.	C	,	1,4183		0,1,2091	77	81	80		597,597	-0.6	1	9		80	0,8488		0,0,4244	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	0,1,6335	TT,TC,CC		0.0,0.0239,0.0079	,	199/726,199/726	95766336	1,12671	2092	4244	6336	SO:0001819	synonymous_variant	89846	exon5			CATGGGCATATTC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.597C>T	9.37:g.95766336C>T		Somatic	99	0	0	1315	WXS	Illumina HiSeq	Phase_I	93	60	0.645161	NM_001083536	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																			C|1.000;T|0.000	0.000	strong		0.582	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95766336	C	T	95766336	2	4	22	1	0	0	0	0	0	0	0	1	5834	697	25	2		2	FGD3	9	95766336	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	354520	95766336	45447095	5186	10294										
FGD3	89846	hgsc.bcm.edu	37	chr9	95768396	95768396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaagaactttgaccgagcCgtagggctggtgagcacgtg	15	9	1	3	rs199786328		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95768396C>T	ENST00000375482.3	+	6	1267	c.771C>T	c.(769-771)gcC>gcT	p.A257A	FGD3_ENST00000416701.2_Silent_p.A257A|FGD3_ENST00000337352.6_Silent_p.A257A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	257	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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TTGACCGAGCCGTAGGGCTGG	0.587																																					p.A257A		Atlas-SNP	.											.	FGD3	116	.	0			c.C771T						PASS	.	C	,	1,4327		0,1,2163	64	71	69		771,771	-7.4	0	9		69	0,8568		0,0,4284	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	0,1,6447	TT,TC,CC		0.0,0.0231,0.0078	,	257/726,257/726	95768396	1,12895	2164	4284	6448	SO:0001819	synonymous_variant	89846	exon6			CCGAGCCGTAGGG	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.771C>T	9.37:g.95768396C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	85	56	0.658824	NM_001083536	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																			C|1.000;T|0.000	0.000	strong		0.587	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95768396	C	T	95768396	2	4	22	1	0	0	0	0	0	0	0	1	5834	639	23	1		1	FGD3	9	95768396	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2060	95768396	45445035	5187	10295										
FGD3	89846	hgsc.bcm.edu	37	chr9	95782667	95782667	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcttttggtggcgccttCagccaggatgaggaccccag	14	11	1	1	rs11790517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95782667C>T	ENST00000375482.3	+	13	1951	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	FGD3_ENST00000538555.1_Silent_p.F88F|FGD3_ENST00000416701.2_Silent_p.F485F|FGD3_ENST00000337352.6_Silent_p.F485F	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	485					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGGCGCCTTCAGCCAGGATG	0.577													C|||	1414	0.282348	0.3812	0.3876	5008	,	,		16496	0.2411		0.2903	False		,,,				2504	0.1084				p.F485F		Atlas-SNP	.											.	FGD3	116	.	0			c.C1455T						PASS	.	C	,	1536,2680		298,940,870	60	66	64		1455,1455	0.2	0	9	dbSNP_120	64	2352,6102		331,1690,2206	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	629,2630,3076	TT,TC,CC		27.8211,36.4326,30.6867	,	485/726,485/726	95782667	3888,8782	2108	4227	6335	SO:0001819	synonymous_variant	89846	exon13			CGCCTTCAGCCAG	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1455C>T	9.37:g.95782667C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	86	28	0.325581	NM_001083536	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																			C|0.684;T|0.316	0.316	strong		0.577	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95782667	C	T	95782667	2	4	22	1	0	0	0	0	0	0	0	1	5834	825	29	2		2	FGD3	9	95782667	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14271	95782667	45430764	5188	10296										
WNK2	65268	hgsc.bcm.edu	37	chr9	95993326	95993326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaccggaccaactgggtcTgtgaagattggcgacttggg	14	9	2	2	rs11787888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:95993326T>C	ENST00000297954.4	+	3	1011	c.1011T>C	c.(1009-1011)tcT>tcC	p.S337S	WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.S337S|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395475.2_Silent_p.S323S|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAACTGGGTCTGTGAAGATTG	0.537													T|||	744	0.148562	0.0983	0.111	5008	,	,		20051	0.0843		0.1541	False		,,,				2504	0.3037				p.S337S		Atlas-SNP	.											WNK2_ENST00000297954,NS,carcinoma,+1,2	WNK2	277	2	0			c.T1011C						PASS	.	T		467,3939	221.0+/-238.3	15,437,1751	184	183	184		1011	-6.7	0.5	9	dbSNP_120	184	1181,7419	242.1+/-272.2	87,1007,3206	no	coding-synonymous	WNK2	NM_006648.3		102,1444,4957	CC,CT,TT		13.7326,10.5992,12.6711		337/2218	95993326	1648,11358	2203	4300	6503	SO:0001819	synonymous_variant	65268	exon3			TGGGTCTGTGAAG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1011T>C	9.37:g.95993326T>C		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	214	64	0.299065	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		247	0.1130952380952381	49	0.09959349593495935	42	0.11602209944751381	38	0.06643356643356643	118	0.15567282321899736	T	10.56	1.385337	0.25031	0.105992	0.137326	ENSG00000165238	ENST00000432730	.	.	.	5.52	-6.68	0.01778	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.18840	-1.0324	3	.	.	.	.	3.2884	0.06940	0.1033:0.3687:0.2131:0.315	rs11787888;rs11787888	.	.	.	P	333	.	.	L	+	2	0	WNK2	95033147	0.000000	0.05858	0.535000	0.28026	0.976000	0.68499	-1.965000	0.01511	-1.726000	0.01370	0.533000	0.62120	CTG	T|0.881;C|0.119	0.119	strong		0.537	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		C	95993326	T	C	95993326	2	2	22	1	0	0	0	0	0	0	0	1	17375	1567	55	3		3	WNK2	9	95993326	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	210659	95993326	45220105	5189	10297										
WNK2	65268	hgsc.bcm.edu	37	chr9	96026243	96026243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggagtgccagctggagacGcacaaccacaagatggtgac	14	10	0	3	rs55981123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:96026243G>A	ENST00000297954.4	+	15	3624	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T	WNK2_ENST00000349097.3_Silent_p.T820T|WNK2_ENST00000395477.2_Silent_p.T1208T|WNK2_ENST00000427277.2_Silent_p.T820T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1208					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGCTGGAGACGCACAACCACA	0.607													G|||	514	0.102636	0.1762	0.1124	5008	,	,		10483	0.001		0.1431	False		,,,				2504	0.0593				p.T1208T		Atlas-SNP	.											WNK2_ENST00000297954,caecum,carcinoma,0,4	WNK2	277	4	0			c.G3624A						PASS	.	G		726,3680	298.1+/-285.1	58,610,1535	132	96	108		3624	-10.3	0.4	9	dbSNP_129	108	1025,7575	218.4+/-256.8	66,893,3341	no	coding-synonymous	WNK2	NM_006648.3		124,1503,4876	AA,AG,GG		11.9186,16.4775,13.463		1208/2218	96026243	1751,11255	2203	4300	6503	SO:0001819	synonymous_variant	65268	exon15			GGAGACGCACAAC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3624G>A	9.37:g.96026243G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		242|242	0.1108058608058608|0.1108058608058608	90|90	0.18292682926829268|0.18292682926829268	45|45	0.12430939226519337|0.12430939226519337	1|1	0.0017482517482517483|0.0017482517482517483	106|106	0.13984168865435356|0.13984168865435356	G|G	9.325|9.325	1.058954|1.058954	0.19987|0.19987	0.164775|0.164775	0.119186|0.119186	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251	.|.	.|.	.|.	5.15|5.15	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999999997|0.9999999999999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.08086|0.08086	-1.0739|-1.0739	3|3	.|.	.|.	.|.	.|.	4.5012|4.5012	0.11865|0.11865	0.5339:0.2285:0.0848:0.1528|0.5339:0.2285:0.0848:0.1528	rs55981123|rs55981123	.|.	.|.	.|.	T|H	812|1204;5	.|.	.|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95066064|95066064	0.000000|0.000000	0.05858|0.05858	0.410000|0.410000	0.26471|0.26471	0.988000|0.988000	0.76386|0.76386	-1.789000|-1.789000	0.01761|0.01761	-2.243000|-2.243000	0.00707|0.00707	-0.251000|-0.251000	0.11542|0.11542	GCA|CGC	G|0.870;A|0.130	0.130	strong		0.607	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		A	96026243	G	A	96026243	2	1	22	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WNK2	9	96026243	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32917	96026243	45187188	5190	10298										
FBP2	8789	hgsc.bcm.edu	37	chr9	97325726	97325726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccacatacctggccccAtagggagcactgccatccta	9	16	0	0	rs41281154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:97325726A>G	ENST00000375337.3	-	6	789	c.723T>C	c.(721-723)taT>taC	p.Y241Y	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	241					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				ACCTGGCCCCATAGGGAGCAC	0.562													.|||	655	0.130791	0.2413	0.111	5008	,	,		20161	0.124		0.0298	False		,,,				2504	0.1063				p.Y241Y		Atlas-SNP	.											.	FBP2	26	.	0			c.T723C						PASS	.	A		955,3451		112,731,1360	120	106	111		723	1	1	9	dbSNP_127	111	193,8407		3,187,4110	no	coding-synonymous	FBP2	NM_003837.2		115,918,5470	GG,GA,AA		2.2442,21.675,8.8267		241/340	97325726	1148,11858	2203	4300	6503	SO:0001819	synonymous_variant	8789	exon6			GGCCCCATAGGGA	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.723T>C	9.37:g.97325726A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	79	24	0.303797	NM_003837	Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	CCDS6711.1																																																																																			A|0.912;G|0.088	0.088	strong		0.562	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		G	97325726	A	G	97325726	2	3	22	1	0	0	0	0	0	0	0	1	5706	224	8	2		2	FBP2	9	97325726	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1299483	97325726	43887705	5191	10299										
FBP2	8789	hgsc.bcm.edu	37	chr9	97349591	97349591	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagccccatgacgcacccGcttctccttggcggtgatga	11	16	1	3	rs2280301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:97349591G>T	ENST00000375337.3	-	2	397	c.331C>A	c.(331-333)Cgg>Agg	p.R111R		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	111					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGACGCACCCGCTTCTCCTTG	0.522													T|||	554	0.110623	0.2579	0.049	5008	,	,		17195	0.0685		0.0437	False		,,,				2504	0.0675				p.R111R		Atlas-SNP	.											.	FBP2	26	.	0			c.C331A						PASS	.	T		1000,3406	730.0+/-410.1	108,784,1311	80	72	75		331	2	0.2	9	dbSNP_100	75	360,8240	803.3+/-407.3	8,344,3948	no	coding-synonymous	FBP2	NM_003837.2		116,1128,5259	TT,TG,GG		4.186,22.6963,10.4567		111/340	97349591	1360,11646	2203	4300	6503	SO:0001819	synonymous_variant	8789	exon2			GCACCCGCTTCTC	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.331C>A	9.37:g.97349591G>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	55	0.611111	NM_003837	Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	CCDS6711.1																																																																																			G|0.890;T|0.110	0.110	strong		0.522	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97349591	G	T	97349591	2	4	22	1	0	0	0	0	0	0	0	1	5706	1086	38	4		4	FBP2	9	97349591	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23865	97349591	43863840	5192	10300										
C9orf3	84909	hgsc.bcm.edu	37	chr9	97563076	97563076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacatggaatacccctgcCgcttccagaatgcttctgcc	8	15	2	1	rs34557833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:97563076C>T	ENST00000375315.2	+	4	1156	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	C9orf3_ENST00000277198.2_Missense_Mutation_p.R386C|C9orf3_ENST00000297979.5_Missense_Mutation_p.R386C|C9orf3_ENST00000395357.2_Missense_Mutation_p.R6C	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	386			R -> C (in dbSNP:rs34557833).		leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATACCCCTGCCGCTTCCAGAA	0.507													C|||	30	0.00599042	0.0227	0.0	5008	,	,		20701	0.0		0.0	False		,,,				2504	0.0				p.R386C		Atlas-SNP	.											.	C9orf3	100	.	0			c.C1156T						PASS	.	C	CYS/ARG,CYS/ARG,CYS/ARG	58,4348	56.2+/-92.4	0,58,2145	102	94	97		1156,1156,1156	4.4	1	9	dbSNP_126	97	0,8600		0,0,4300	yes	missense,missense,missense	C9orf3	NM_001193329.1,NM_001193331.2,NM_032823.5	180,180,180	0,58,6445	TT,TC,CC		0.0,1.3164,0.4459	possibly-damaging,possibly-damaging,possibly-damaging	386/820,386/567,386/721	97563076	58,12948	2203	4300	6503	SO:0001583	missense	84909	exon5			CCCTGCCGCTTCC	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1156C>T	9.37:g.97563076C>T	ENSP00000364464:p.Arg386Cys	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	141	88	0.624114	NM_001193331	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	23.3	4.397577	0.83120	0.013164	0.0	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.15952	4.18;2.39;2.74;2.43;2.38;4.18	5.28	4.38	0.52667	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.995;0.998	T	0.13710	-1.0499	10	0.72032	D	0.01	-13.0857	15.6642	0.77213	0.1375:0.8625:0.0:0.0	rs34557833	386;386;386;386	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	C	386;386;386;209;168;6	ENSP00000277198:R386C;ENSP00000297979:R386C;ENSP00000364464:R386C;ENSP00000402171:R209C;ENSP00000401854:R168C;ENSP00000378763:R6C	ENSP00000277198:R386C	R	+	1	0	C9orf3	96602897	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.291000	0.59025	1.432000	0.47375	0.650000	0.86243	CGC	C|0.995;T|0.005	0.005	strong		0.507	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		T	97563076	C	T	97563076	3	4	22	1	0	0	0	0	1	0	0	0	2477	652	23	1	1170	1	C9orf3	9	97563076	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	213485	97563076	43650355	5193	10301										
HABP4	22927	hgsc.bcm.edu	37	chr9	99250463	99250463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagattaattttggtaacctCcctcgtcctgggcgtggagc	12	10	0	1	rs7030316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99250463C>T	ENST00000375249.4	+	7	1167	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	HABP4_ENST00000375251.3_Silent_p.L259L|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTGGTAACCTCCCTCGTCCTG	0.547													C|||	940	0.1877	0.444	0.1066	5008	,	,		19743	0.0248		0.165	False		,,,				2504	0.09				p.L364L		Atlas-SNP	.											.	HABP4	25	.	0			c.C1092T						PASS	.	C		1820,2586	531.5+/-373.2	377,1066,760	147	141	143		1092	0.8	1	9	dbSNP_116	143	1552,7048	291.6+/-300.4	147,1258,2895	no	coding-synonymous	HABP4	NM_014282.2		524,2324,3655	TT,TC,CC		18.0465,41.3073,25.9265		364/414	99250463	3372,9634	2203	4300	6503	SO:0001819	synonymous_variant	22927	exon7			TAACCTCCCTCGT	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1092C>T	9.37:g.99250463C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	88	21	0.238636	NM_014282		Silent	SNP	ENST00000375249.4	37	CCDS6719.1																																																																																			C|0.771;T|0.229	0.229	strong		0.547	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		T	99250463	C	T	99250463	2	4	22	1	0	0	0	0	0	0	0	1	6939	842	30	2		2	HABP4	9	99250463	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1687387	99250463	41962968	5194	10302										
C9orf21	195827	hgsc.bcm.edu	37	chr9	99417000	99417000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcacttgtaagaaactcCtggggattttggccagatcc	9	10	1	2	rs9886834|rs77297714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99417000C>T	ENST00000375234.3	-	2	247	c.248G>A	c.(247-249)aGg>aAg	p.R83K	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	83			R -> K (in dbSNP:rs9886834).														TAAGAAACTCCTGGGGATTTT	0.572													T|||	410	0.081869	0.2912	0.0259	5008	,	,		16276	0.0		0.002	False		,,,				2504	0.0051				p.R83K		Atlas-SNP	.											.	.	.	.	0			c.G248A						PASS	.	T	LYS/ARG	1109,3283		125,859,1212	59	58	58		248	-1.6	0.8	9	dbSNP_119	58	16,8558		0,16,4271	yes	missense	C9orf21	NM_153698.1	26	125,875,5483	TT,TC,CC		0.1866,25.2505,8.6765	benign	83/227	99417000	1125,11841	2196	4287	6483	SO:0001583	missense	195827	exon2			AAACTCCTGGGGA	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 21"	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.248G>A	9.37:g.99417000C>T	ENSP00000364382:p.Arg83Lys	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	69	41	0.594203	NM_153698	B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	CCDS35073.1	132|132	0.06043956043956044|0.06043956043956044	124|124	0.25203252032520324|0.25203252032520324	8|8	0.022099447513812154|0.022099447513812154	0|0	0.0|0.0	0|0	0.0|0.0	T|T	0.325|0.325	-0.959491|-0.959491	0.02267|0.02267	0.252505|0.252505	0.001866|0.001866	ENSG00000158122|ENSG00000158122	ENST00000411939|ENST00000375234;ENST00000375233	.|T	.|0.39592	.|1.07	4.79|4.79	-1.64|-1.64	0.08318|0.08318	.|Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (2);	.|0.514983	.|0.21661	.|N	.|0.071010	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.20240|0.20240	-1.0281|-1.0281	4|9	.|0.02654	.|T	.|1	-1.013|-1.013	5.5316|5.5316	0.16987|0.16987	0.1376:0.4036:0.0:0.4588|0.1376:0.4036:0.0:0.4588	rs9886834;rs11538195;rs57315001;rs9886834|rs9886834;rs11538195;rs57315001;rs9886834	.|83	.|Q7RTV5	.|CI021_HUMAN	R|K	11|83	.|ENSP00000364382:R83K	.|ENSP00000364381:R83K	G|R	-|-	1|2	0|0	C9orf21|C9orf21	98456821|98456821	0.175000|0.175000	0.23083|0.23083	0.814000|0.814000	0.32528|0.32528	0.098000|0.098000	0.18820|0.18820	-0.008000|-0.008000	0.12788|0.12788	-0.858000|-0.858000	0.04110|0.04110	-1.916000|-1.916000	0.00518|0.00518	GGA|AGG	C|0.901;T|0.099	0.099	strong		0.572	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		T	99417000	C	T	99417000	3	4	22	1	0	0	0	0	1	0	0	0	2473	681	24	2	452	2	C9orf21	9	99417000	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166537	99417000	41796431	5195	10303										
ZNF510	22869	hgsc.bcm.edu	37	chr9	99521150	99521150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattcattgcattcataagaTttctccccactgtgagtcct	5	11	3	2	rs61735521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99521150T>C	ENST00000375231.1	-	6	2612	c.1962A>G	c.(1960-1962)aaA>aaG	p.K654K	ZNF510_ENST00000223428.4_Silent_p.K654K			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	654					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(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTCATAAGATTTCTCCCCAC	0.383													T|||	174	0.0347444	0.1278	0.0072	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.0				p.K654K		Atlas-SNP	.											.	ZNF510	59	.	0			c.A1962G						PASS	.	T		448,3958	211.8+/-231.9	22,404,1777	101	107	105		1962	-0.6	0	9	dbSNP_129	105	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF510	NM_014930.1		22,406,6075	CC,CT,TT		0.0233,10.168,3.4599		654/684	99521150	450,12556	2203	4300	6503	SO:0001819	synonymous_variant	22869	exon6			ATAAGATTTCTCC	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1962A>G	9.37:g.99521150T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	162	103	0.635802	NM_014930	Q5SZP5	Silent	SNP	ENST00000375231.1	37	CCDS35074.1																																																																																			T|0.970;C|0.030	0.030	strong		0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		C	99521150	T	C	99521150	2	2	22	1	0	0	0	0	0	0	0	1	17951	1490	52	2		2	ZNF510	9	99521150	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	104150	99521150	41692281	5196	10304										
ZNF510	22869	hgsc.bcm.edu	37	chr9	99522508	99522508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacatacattaccgcaacCtattttctttgttgaatagt	4	10	2	1	rs61731162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99522508C>T	ENST00000375231.1	-	6	1254	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	ZNF510_ENST00000472201.1_5'Flank|ZNF510_ENST00000223428.4_Missense_Mutation_p.G202S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	202					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(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTACCGCAACCTATTTTCTTT	0.294													C|||	172	0.034345	0.1263	0.0072	5008	,	,		17618	0.0		0.0	False		,,,				2504	0.0				p.G202S		Atlas-SNP	.											.	ZNF510	59	.	0			c.G604A						PASS	.	C	SER/GLY	441,3957	195.0+/-219.7	22,397,1780	39	44	42		604	0	0	9	dbSNP_129	42	2,8588	2.2+/-6.3	0,2,4293	yes	missense	ZNF510	NM_014930.1	56	22,399,6073	TT,TC,CC		0.0233,10.0273,3.4108	benign	202/684	99522508	443,12545	2199	4295	6494	SO:0001583	missense	22869	exon6			CGCAACCTATTTT	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.604G>A	9.37:g.99522508C>T	ENSP00000364379:p.Gly202Ser	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	108	67	0.62037	NM_014930	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	53	0.024267399267399268	50	0.1016260162601626	3	0.008287292817679558	0	0.0	0	0.0	c	10.85	1.467776	0.26335	0.100273	2.33E-4	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.05139	3.49;3.49	3.02	0.0252	0.14144	.	.	.	.	.	T	0.00109	0.0003	N	0.12569	0.235	0.09310	N	1	B	0.26002	0.139	B	0.19946	0.027	T	0.48305	-0.9047	9	0.18710	T	0.47	.	2.8749	0.05628	0.3758:0.3954:0.0:0.2288	.	202	Q9Y2H8	ZN510_HUMAN	S	202	ENSP00000364379:G202S;ENSP00000223428:G202S	ENSP00000223428:G202S	G	-	1	0	ZNF510	98562329	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	0.101000	0.15251	0.012000	0.14892	0.655000	0.94253	GGT	C|0.973;T|0.027	0.027	strong		0.294	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		T	99522508	C	T	99522508	3	4	22	1	0	0	0	0	1	0	0	0	17951	681	24	2	1451	2	ZNF510	9	99522508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1358	99522508	41690923	5197	10305										
ZNF782	158431	hgsc.bcm.edu	37	chr9	99581440	99581440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaaggatttccctcctgTgagagttttgtgagtgattc	12	7	0	4	rs35403084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99581440T>C	ENST00000481138.1	-	6	1526	c.865A>G	c.(865-867)Aca>Gca	p.T289A	ZNF782_ENST00000535338.1_Missense_Mutation_p.T157A|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	289			T -> A (in dbSNP:rs35403084).		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(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTCCCTCCTGTGAGAGTTTTG	0.363													T|||	174	0.0347444	0.1278	0.0072	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.0				p.T289A		Atlas-SNP	.											.	ZNF782	64	.	0			c.A865G						PASS	.	T	ALA/THR	440,3966	207.8+/-229.1	21,398,1784	84	88	86		865	0.7	0	9	dbSNP_126	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF782	NM_001001662.1	58	21,400,6082	CC,CT,TT		0.0233,9.9864,3.3984	benign	289/700	99581440	442,12564	2203	4300	6503	SO:0001583	missense	158431	exon6			CTCCTGTGAGAGT	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.865A>G	9.37:g.99581440T>C	ENSP00000419397:p.Thr289Ala	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	92	57	0.619565	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	55|55	0.025183150183150184|0.025183150183150184	52|52	0.10569105691056911|0.10569105691056911	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	T|T	11.19|11.19	1.564629|1.564629	0.27915|0.27915	0.099864|0.099864	2.33E-4|2.33E-4	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|T;T	.|0.05996	.|3.5;3.36	3.29|3.29	0.74|0.74	0.18330|0.18330	.|Zinc finger, C2H2 (1);	.|1.047330	.|0.07644	.|N	.|0.930840	T|T	0.00144|0.00144	0.0004|0.0004	L|L	0.45051|0.45051	1.395|1.395	0.20821|0.20821	N|N	0.999841|0.999841	.|P	.|0.37525	.|0.598	.|B	.|0.32211	.|0.142	T|T	0.44757|0.44757	-0.9307|-0.9307	5|10	.|0.42905	.|T	.|0.14	.|.	8.5445|8.5445	0.33413|0.33413	0.0:0.0:0.3768:0.6232|0.0:0.0:0.3768:0.6232	rs35403084|rs35403084	.|289	.|Q6ZMW2	.|ZN782_HUMAN	R|A	277|289;157	.|ENSP00000419397:T289A;ENSP00000440624:T157A	.|ENSP00000419397:T289A	H|T	-|-	2|1	0|0	ZNF782|ZNF782	98621261|98621261	0.044000|0.044000	0.20184|0.20184	0.000000|0.000000	0.03702|0.03702	0.137000|0.137000	0.21094|0.21094	1.139000|1.139000	0.31504|0.31504	0.142000|0.142000	0.18901|0.18901	0.524000|0.524000	0.50904|0.50904	CAC|ACA	T|0.971;C|0.029	0.029	strong		0.363	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		C	99581440	T	C	99581440	3	2	22	1	0	0	0	0	1	0	0	0	18152	1696	59	2	1238	2	ZNF782	9	99581440	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58932	99581440	41631991	5198	10306										
ZNF782	158431	hgsc.bcm.edu	37	chr9	99581811	99581811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatttgtcacaaacattaCgctcatgagccttttctttt	5	11	3	1	rs4645656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:99581811C>T	ENST00000481138.1	-	6	1155	c.494G>A	c.(493-495)cGt>cAt	p.R165H	ZNF782_ENST00000535338.1_Missense_Mutation_p.R33H|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	165			R -> H (in dbSNP:rs4645656).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R165H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACAAACATTACGCTCATGAGC	0.433													T|||	1364	0.272364	0.6271	0.0735	5008	,	,		17730	0.3185		0.0318	False		,,,				2504	0.1339				p.R165H		Atlas-SNP	.											ZNF782,rectum,carcinoma,-1,2	ZNF782	64	2	1	Substitution - Missense(1)	stomach(1)	c.G494A						scavenged	.	T	HIS/ARG	2402,2004	559.9+/-380.3	661,1080,462	83	85	84		494	-4	0	9	dbSNP_111	84	176,8424	811.3+/-407.1	1,174,4125	yes	missense	ZNF782	NM_001001662.1	29	662,1254,4587	TT,TC,CC		2.0465,45.4834,19.8216	benign	165/700	99581811	2578,10428	2203	4300	6503	SO:0001583	missense	158431	exon6			ACATTACGCTCAT	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.494G>A	9.37:g.99581811C>T	ENSP00000419397:p.Arg165His	Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	107	67	0.626168	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	548	0.2509157509157509	303	0.6158536585365854	27	0.07458563535911603	192	0.3356643356643357	26	0.03430079155672823	T	5.842	0.339619	0.11069	0.545166	0.020465	ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850	T;T;T	0.05996	3.53;3.36;5.86	3.38	-4.0	0.04057	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	8	0.17369	T	0.5	.	3.2255	0.06730	0.1753:0.4618:0.0921:0.2708	rs4645656;rs52822922;rs4645656	165	Q6ZMW2	ZN782_HUMAN	H	165;33;165	ENSP00000419397:R165H;ENSP00000440624:R33H;ENSP00000417577:R165H	ENSP00000417577:R165H	R	-	2	0	ZNF782	98621632	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.145000	0.10265	-1.320000	0.02283	-0.987000	0.02553	CGT	C|0.769;T|0.231	0.231	strong		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		T	99581811	C	T	99581811	3	4	22	1	0	0	0	0	1	0	0	0	18152	536	19	1	1609	1	ZNF782	9	99581811	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	371	99581811	41631620	5199	10307										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100087345	100087345	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacagagtggcagagttcAcacctcttcaagtatttcca	8	11	3	3	rs3747496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100087345A>G	ENST00000357054.1	+	28	2900	c.1965A>G	c.(1963-1965)tcA>tcG	p.S655S	CCDC180_ENST00000529487.1_Silent_p.S516S|CCDC180_ENST00000375202.2_Silent_p.S516S|CCDC180_ENST00000395220.1_Missense_Mutation_p.H627R|CCDC180_ENST00000411667.2_Silent_p.S513S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	655						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S655S(1)									GGCAGAGTTCACACCTCTTCA	0.562													G|||	2995	0.598043	0.7587	0.6671	5008	,	,		18972	0.5843		0.3956	False		,,,				2504	0.5542				p.S516S		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.A1548G						PASS	.	G		3229,1177	412.2+/-336.0	1184,861,158	52	50	51		1548	-10.3	0	9	dbSNP_107	51	3985,4615	598.9+/-394.0	916,2153,1231	no	coding-synonymous	C9orf174	NM_020893.2		2100,3014,1389	GG,GA,AA		46.3372,26.7136,44.5333		516/1702	100087345	7214,5792	2203	4300	6503	SO:0001819	synonymous_variant	0	exon14			GAGTTCACACCTC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1965A>G	9.37:g.100087345A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	66	0.733333	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37		1225	0.5608974358974359	357	0.725609756097561	224	0.6187845303867403	341	0.5961538461538461	303	0.3997361477572559	G	2.270	-0.367181	0.05069	0.732864	0.463372	ENSG00000197816	ENST00000395220	T	0.24350	1.86	5.39	-10.3	0.00346	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.26155	-1.0111	5	0.16420	T	0.52	3.1745	6.5357	0.22352	0.308:0.0946:0.504:0.0934	rs3747496;rs58149924;rs3747496	.	.	.	R	627	ENSP00000378646:H627R	ENSP00000378646:H627R	H	+	2	0	C9orf174	99127166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.804000	0.04535	-2.480000	0.00523	-2.236000	0.00289	CAC	A|0.437;G|0.563	0.563	strong		0.562	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100087345	A	G	100087345	2	3	22	1	0	0	0	0	0	0	0	1	8240	146	6	2		2	KIAA1529	9	100087345	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	505534	100087345	41126086	5200	10308										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100105735	100105735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctggaagaagagcattgTaggaagtcccattccacctt	9	12	0	2	rs1947717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100105735T>C	ENST00000357054.1	+	33	3872	c.2937T>C	c.(2935-2937)tgT>tgC	p.C979C	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.C840C|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.C837C|CCDC180_ENST00000375202.2_Silent_p.C840C			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	979						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AAGAGCATTGTAGGAAGTCCC	0.423													C|||	2973	0.59365	0.7458	0.6628	5008	,	,		17941	0.5843		0.3936	False		,,,				2504	0.5542				p.C840C		Atlas-SNP	.											.	.	.	.	0			c.T2520C						PASS	.	C		3195,1211	420.2+/-338.9	1154,887,162	123	113	116		2520	2.3	0	9	dbSNP_92	116	3980,4620	600.2+/-394.2	912,2156,1232	no	coding-synonymous	C9orf174	NM_020893.2		2066,3043,1394	CC,CT,TT		46.2791,27.4852,44.8332		840/1702	100105735	7175,5831	2203	4300	6503	SO:0001819	synonymous_variant	0	exon19			GCATTGTAGGAAG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2937T>C	9.37:g.100105735T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	107	72	0.672897	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				T|0.445;C|0.555	0.555	strong		0.423	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100105735	T	C	100105735	2	2	22	1	0	0	0	0	0	0	0	1	8240	1644	57	2		2	KIAA1529	9	100105735	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18390	100105735	41107696	5201	10309										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100105782	100105782	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgttcatcaacgacacttCcagtgccaagttcatagaac	6	12	3	1	rs2061634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100105782C>G	ENST00000357054.1	+	33	3919	c.2984C>G	c.(2983-2985)tCc>tGc	p.S995C	CCDC180_ENST00000529487.1_Missense_Mutation_p.S856C|CCDC180_ENST00000375202.2_Missense_Mutation_p.S856C|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S853C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	995			S -> C (in dbSNP:rs2061634).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AACGACACTTCCAGTGCCAAG	0.383													C|||	1394	0.278355	0.41	0.304	5008	,	,		19363	0.1835		0.1998	False		,,,				2504	0.2607				p.S856C		Atlas-SNP	.											.	.	.	.	0			c.C2567G						PASS	.	C	CYS/SER	1846,2560	537.6+/-374.8	400,1046,757	100	94	96		2567	1.9	0	9	dbSNP_94	96	2349,6251	392.1+/-343.9	320,1709,2271	yes	missense	C9orf174	NM_020893.2	112	720,2755,3028	GG,GC,CC		27.314,41.8974,32.2543	benign	856/1702	100105782	4195,8811	2203	4300	6503	SO:0001583	missense	0	exon19			ACACTTCCAGTGC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2984C>G	9.37:g.100105782C>G	ENSP00000349562:p.Ser995Cys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	92	52	0.565217	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		542	0.24816849816849818	207	0.42073170731707316	88	0.2430939226519337	106	0.1853146853146853	141	0.18601583113456466	C	15.07	2.723583	0.48728	0.418974	0.27314	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.13307	2.9;2.9;2.6;2.9	5.39	1.93	0.25924	.	1.074820	0.07175	N	0.853079	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B;B	0.17038	0.02;0.012;0.02	B;B;B	0.17098	0.017;0.01;0.017	T	0.47761	-0.9092	9	0.52906	T	0.07	-0.9304	4.218	0.10544	0.0:0.5169:0.2133:0.2698	rs2061634;rs2061634	879;995;995	Q86Y65;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	C	995;856;853;879;856	ENSP00000349562:S995C;ENSP00000364348:S856C;ENSP00000414000:S853C;ENSP00000434727:S856C	ENSP00000349562:S995C	S	+	2	0	C9orf174	99145603	0.001000	0.12720	0.002000	0.10522	0.059000	0.15707	0.649000	0.24843	0.490000	0.27771	0.655000	0.94253	TCC	C|0.698;G|0.302	0.302	strong		0.383	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100105782	C	G	100105782	3	3	22	1	0	0	0	0	1	0	0	0	8240	855	30	4	3070	4	KIAA1529	9	100105782	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47	100105782	41107649	5202	10310										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100128003	100128003	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgggagagcagtgagaaCctgctgacagtcgcagaggt	15	9	1	4	rs148165882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100128003C>G	ENST00000357054.1	+	42	4931	c.3996C>G	c.(3994-3996)aaC>aaG	p.N1332K	CCDC180_ENST00000529487.1_Missense_Mutation_p.N1387K|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.N1387K|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1332						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCAGTGAGAACCTGCTGACAG	0.587													C|||	16	0.00319489	0.0008	0.0014	5008	,	,		17985	0.0		0.0129	False		,,,				2504	0.001				p.N1387K		Atlas-SNP	.											KIAA1529,NS,haematopoietic_neoplasm,0,2	.	.	2	0			c.C4161G						PASS	.	C	LYS/ASN	10,4396	16.8+/-37.8	0,10,2193	132	126	128		4161	-3.1	0.1	9	dbSNP_134	128	67,8533	40.3+/-97.0	0,67,4233	yes	missense	C9orf174	NM_020893.2	94	0,77,6426	GG,GC,CC		0.7791,0.227,0.592	possibly-damaging	1387/1702	100128003	77,12929	2203	4300	6503	SO:0001583	missense	0	exon30			TGAGAACCTGCTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3996C>G	9.37:g.100128003C>G	ENSP00000349562:p.Asn1332Lys	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	110	37	0.336364	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		13	0.005952380952380952	1	0.0020325203252032522	0	0.0	0	0.0	12	0.0158311345646438	C	10.99	1.508248	0.27036	0.00227	0.007791	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.07567	3.19;3.18;3.18	4.73	-3.11	0.05299	.	0.520038	0.17321	N	0.178515	T	0.01627	0.0052	N	0.19112	0.55	0.20074	N	0.999931	B;P	0.49559	0.257;0.925	B;B	0.43478	0.074;0.421	T	0.33904	-0.9850	10	0.05721	T	0.95	-0.9292	5.5431	0.17049	0.0:0.2861:0.3182:0.3956	.	1526;1332	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	K	1332;1387;1387	ENSP00000349562:N1332K;ENSP00000364348:N1387K;ENSP00000434727:N1387K	ENSP00000349562:N1332K	N	+	3	2	C9orf174	99167824	0.001000	0.12720	0.142000	0.22268	0.006000	0.05464	-0.935000	0.03950	-0.344000	0.08338	-0.302000	0.09304	AAC	C|0.994;G|0.006	0.006	strong		0.587	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100128003	C	G	100128003	3	3	22	1	0	0	0	0	1	0	0	0	8240	506	18	4	4118	4	KIAA1529	9	100128003	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22221	100128003	41085428	5203	10311										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100139161	100139161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtccctgcacactatccaAggcctgtatgtgtgaccctc	8	15	0	1	rs11581	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100139161A>G	ENST00000357054.1	+	49	5861	c.4926A>G	c.(4924-4926)caA>caG	p.Q1642Q	CCDC180_ENST00000529487.1_Silent_p.Q1697Q|CCDC180_ENST00000375202.2_Silent_p.Q1697Q|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1642						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q1642Q(1)									ACACTATCCAAGGCCTGTATG	0.517													G|||	2100	0.419329	0.5726	0.4582	5008	,	,		21290	0.5248		0.1958	False		,,,				2504	0.3057				p.Q1697Q		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.A5091G						PASS	.	G		2343,2063	566.4+/-381.9	643,1057,503	127	104	112		5091	2.1	0.6	9	dbSNP_52	112	1624,6976	739.4+/-407.1	146,1332,2822	no	coding-synonymous	C9orf174	NM_020893.2		789,2389,3325	GG,GA,AA		18.8837,46.8225,30.5013		1697/1702	100139161	3967,9039	2203	4300	6503	SO:0001819	synonymous_variant	0	exon37			TATCCAAGGCCTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4926A>G	9.37:g.100139161A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				A|0.654;G|0.346	0.346	strong		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100139161	A	G	100139161	2	3	22	1	0	0	0	0	0	0	0	1	8240	69	3	3		3	KIAA1529	9	100139161	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11158	100139161	41074270	5204	10312										
TSTD2	158427	hgsc.bcm.edu	37	chr9	100388119	100388119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagttgctttaaaatagaaGctgtctggtgataaatttca	8	6	2	2	rs10817858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100388119G>T	ENST00000341170.4	-	3	708	c.326C>A	c.(325-327)gCt>gAt	p.A109D	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	109			A -> D (in dbSNP:rs10817858).					p.A109D(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TAAAATAGAAGCTGTCTGGTG	0.423													G|||	1089	0.217452	0.0991	0.1167	5008	,	,		19402	0.253		0.2177	False		,,,				2504	0.4121				p.A109D		Atlas-SNP	.											TSTD2,NS,carcinoma,0,1	TSTD2	42	1	1	Substitution - Missense(1)	stomach(1)	c.C326A						PASS	.	G	ASP/ALA	496,3910	229.4+/-244.0	22,452,1729	161	154	156		326	1.8	0.1	9	dbSNP_120	156	1640,6960	303.6+/-306.5	150,1340,2810	yes	missense	TSTD2	NM_139246.4	126	172,1792,4539	TT,TG,GG		19.0698,11.2574,16.4232	benign	109/517	100388119	2136,10870	2203	4300	6503	SO:0001583	missense	158427	exon3			ATAGAAGCTGTCT	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.326C>A	9.37:g.100388119G>T	ENSP00000342499:p.Ala109Asp	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	140	85	0.607143	NM_139246	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	CCDS6727.2	389	0.17811355311355312	53	0.10772357723577236	40	0.11049723756906077	133	0.23251748251748253	163	0.21503957783641162	G	12.26	1.885639	0.33255	0.112574	0.190698	ENSG00000136925	ENST00000341170	T	0.32272	1.46	4.8	1.8	0.24995	.	0.832652	0.11148	N	0.594432	T	0.00012	0.0000	L	0.51422	1.61	0.53688	P	2.599999999997049E-5	B	0.17038	0.02	B	0.14578	0.011	T	0.34900	-0.9810	9	0.12430	T	0.62	-0.337	1.6494	0.02768	0.1632:0.1405:0.4078:0.2885	rs10817858;rs56741257;rs10817858	109	Q5T7W7	TSTD2_HUMAN	D	109	ENSP00000342499:A109D	ENSP00000342499:A109D	A	-	2	0	TSTD2	99427940	0.001000	0.12720	0.087000	0.20705	0.959000	0.62525	0.262000	0.18460	0.258000	0.21686	0.563000	0.77884	GCT	G|0.832;T|0.168	0.168	strong		0.423	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		T	100388119	G	T	100388119	3	4	22	1	0	0	0	0	1	0	0	0	16672	971	34	4	1256	4	TSTD2	9	100388119	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248958	100388119	40825312	5205	10313										
XPA	7507	hgsc.bcm.edu	37	chr9	100449436	100449436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatgtggattcttcttcAcaataaatttaagaggtggc	9	5	3	2	rs143374902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100449436A>G	ENST00000375128.4	-	4	561	c.497T>C	c.(496-498)gTg>gCg	p.V166A		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	166					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				ATTCTTCTTCACAATAAATTT	0.313			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A|||	10	0.00199681	0.0076	0.0	5008	,	,		15259	0.0		0.0	False		,,,				2504	0.0				p.V166A		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"xeroderma pigmentosum, complementation group A"		E	.	XPA	21	.	0			c.T497C						PASS	.	A	ALA/VAL	48,4358	48.9+/-83.8	0,48,2155	119	126	123		497	5.4	1	9	dbSNP_134	123	0,8596		0,0,4298	yes	missense	XPA	NM_000380.3	64	0,48,6453	GG,GA,AA		0.0,1.0894,0.3692	benign	166/274	100449436	48,12954	2203	4298	6501	SO:0001583	missense	7507	exon4	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TTCTTCACAATAA	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.497T>C	9.37:g.100449436A>G	ENSP00000364270:p.Val166Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	55	0.774648	NM_000380	Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	CCDS6729.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	15.65	2.896170	0.52121	0.010894	0.0	ENSG00000136936	ENST00000375128	T	0.59224	0.28	5.42	5.42	0.78866	DNA binding domain, putative (1);XPA C- terminal (1);	0.212392	0.44483	D	0.000454	T	0.48624	0.1510	L	0.48362	1.52	0.45852	D	0.998718	B	0.24426	0.103	B	0.36766	0.232	T	0.53063	-0.8491	10	0.40728	T	0.16	.	13.2937	0.60284	1.0:0.0:0.0:0.0	.	166	P23025	XPA_HUMAN	A	166	ENSP00000364270:V166A	ENSP00000364270:V166A	V	-	2	0	XPA	99489257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.196000	0.70406	0.533000	0.62120	GTG	A|0.996;G|0.004	0.004	strong		0.313	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		G	100449436	A	G	100449436	3	3	22	1	0	0	0	0	1	0	0	0	17437	159	6	2	336	2	XPA	9	100449436	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61317	100449436	40763995	5206	10314										
C9orf156	51531	hgsc.bcm.edu	37	chr9	100672338	100672338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcacccaggcaggaaccaCgctgcggggagctccatcag	13	14	2	0	rs2282192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100672338C>T	ENST00000375119.3	-	4	1046	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	324			V -> M (in dbSNP:rs2282192).		viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GCAGGAACCACGCTGCGGGGA	0.592													C|||	2951	0.589257	0.7935	0.4553	5008	,	,		19915	0.7788		0.2704	False		,,,				2504	0.5409				p.V324M		Atlas-SNP	.											C9orf156,NS,meningioma,0,1	C9orf156	35	1	0			c.G970A						PASS	.	C	MET/VAL	3121,1285	699.7+/-406.5	1113,895,195	58	53	54		970	-3.4	0	9	dbSNP_100	54	2332,6268	389.4+/-342.9	311,1710,2279	yes	missense	C9orf156	NM_016481.3	21	1424,2605,2474	TT,TC,CC		27.1163,29.1648,41.9268	benign	324/442	100672338	5453,7553	2203	4300	6503	SO:0001583	missense	51531	exon4			GAACCACGCTGCG	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.970G>A	9.37:g.100672338C>T	ENSP00000364260:p.Val324Met	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	95	62	0.652632	NM_016481	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	CCDS6730.1	1203	0.5508241758241759	391	0.7947154471544715	152	0.4198895027624309	445	0.777972027972028	215	0.2836411609498681	C	10.47	1.360029	0.24598	0.708352	0.271163	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.47528	0.84;0.84	5.03	-3.42	0.04825	Uncharacterised domain UPF0066, YaeB-like domain (1);	1.123640	0.06526	N	0.740603	T	0.00012	0.0000	L	0.38838	1.175	0.80722	P	0.0	B;B	0.18610	0.029;0.007	B;B	0.13407	0.009;0.001	T	0.39502	-0.9611	9	0.44086	T	0.13	-0.2542	1.5546	0.02582	0.1786:0.3526:0.102:0.3668	rs2282192;rs52801806;rs61011015;rs2282192	178;324	Q5T114;Q9BU70	.;NAP1_HUMAN	M	324;178	ENSP00000364260:V324M;ENSP00000364259:V178M	ENSP00000364259:V178M	V	-	1	0	C9orf156	99712159	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	-0.162000	0.10012	-0.506000	0.06558	-1.559000	0.00887	GTG	C|0.504;T|0.496	0.496	strong		0.592	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		T	100672338	C	T	100672338	3	4	22	1	0	0	0	0	1	0	0	0	2465	536	19	1	363	1	C9orf156	9	100672338	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	222902	100672338	40541093	5207	10315										
NANS	54187	hgsc.bcm.edu	37	chr9	100819192	100819192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccaccagggcgacctggaCgtagccaagcgcatgatccg	12	14	0	1	rs3739670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100819192C>T	ENST00000210444.5	+	1	172	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	34					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GCGACCTGGACGTAGCCAAGC	0.726													C|||	1962	0.391773	0.6778	0.2622	5008	,	,		9444	0.124		0.2068	False		,,,				2504	0.5634				p.D34D		Atlas-SNP	.											.	NANS	24	.	0			c.C102T						PASS	.	C		2708,1694		832,1044,325	26	27	27		102	-1.5	1	9	dbSNP_107	27	1697,6901		162,1373,2764	no	coding-synonymous	NANS	NM_018946.3		994,2417,3089	TT,TC,CC		19.7371,38.4825,33.8846		34/360	100819192	4405,8595	2201	4299	6500	SO:0001819	synonymous_variant	54187	exon1			CCTGGACGTAGCC	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.102C>T	9.37:g.100819192C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	91	56	0.615385	NM_018946	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	ENST00000210444.5	37	CCDS6733.1																																																																																			C|0.679;T|0.321	0.321	strong		0.726	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		T	100819192	C	T	100819192	2	4	22	1	0	0	0	0	0	0	0	1	10155	535	19	1		1	NANS	9	100819192	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146854	100819192	40394239	5208	10316										
TBC1D2	55357	hgsc.bcm.edu	37	chr9	100995721	100995721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgctggcgtcagaggccAagggctgctcctccctctga	15	13	2	2	rs879369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100995721A>G	ENST00000375064.1	-	4	796	c.758T>C	c.(757-759)tTg>tCg	p.L253S	TBC1D2_ENST00000375066.5_Missense_Mutation_p.L253S|TBC1D2_ENST00000342112.5_Missense_Mutation_p.L35S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	253			L -> S (in dbSNP:rs879369). {ECO:0000269|PubMed:11785977, ECO:0000269|PubMed:14702039}.		positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTCAGAGGCCAAGGGCTGCTC	0.622													G|||	2065	0.41234	0.8011	0.3372	5008	,	,		19660	0.1756		0.339	False		,,,				2504	0.2597				p.L253S		Atlas-SNP	.											.	TBC1D2	70	.	0			c.T758C						PASS	.	G	SER/LEU	3240,1166	410.4+/-335.4	1196,848,159	104	93	97		758	-6	0	9	dbSNP_86	97	2730,5870	681.8+/-403.7	425,1880,1995	yes	missense	TBC1D2	NM_018421.3	145	1621,2728,2154	GG,GA,AA		31.7442,26.4639,45.9019	benign	253/918	100995721	5970,7036	2203	4300	6503	SO:0001583	missense	55357	exon4			GAGGCCAAGGGCT	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.758T>C	9.37:g.100995721A>G	ENSP00000364205:p.Leu253Ser	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	101	59	0.584158	NM_001267571	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		882	0.40384615384615385	382	0.7764227642276422	130	0.35911602209944754	99	0.17307692307692307	271	0.3575197889182058	G	0.006	-2.118793	0.00346	0.735361	0.317442	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.13196	2.61;3.15;2.61	4.95	-5.96	0.02234	.	1.754710	0.02901	N	0.135376	T	0.00012	0.0000	L	0.35723	1.085	0.80722	P	0.0	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.18710	T	0.47	.	15.9903	0.80199	0.7218:0.0:0.2782:0.0	rs879369;rs17761260;rs61283010;rs879369	253;253	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	S	253;253;35	ENSP00000364205:L253S;ENSP00000364207:L253S;ENSP00000341567:L35S	ENSP00000341567:L35S	L	-	2	0	TBC1D2	100035542	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.964000	0.01512	-2.065000	0.00887	-2.930000	0.00088	TTG	T|0.000;G|0.439;C|0.000;A|0.561	0.439	strong		0.622	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		G	100995721	A	G	100995721	3	3	22	1	0	0	0	0	1	0	0	0	15605	131	5	2	2035	2	TBC1D2	9	100995721	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	176529	100995721	40217710	5209	10317										
TBC1D2	55357	hgsc.bcm.edu	37	chr9	100995758	100995758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggctccccactctgtgGagaatcttcccctggaggtt	11	13	2	2	rs879368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:100995758G>T	ENST00000375064.1	-	4	759	c.721C>A	c.(721-723)Cca>Aca	p.P241T	TBC1D2_ENST00000375066.5_Missense_Mutation_p.P241T|TBC1D2_ENST00000342112.5_Missense_Mutation_p.P23T	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	241			P -> T (in dbSNP:rs879368). {ECO:0000269|PubMed:14702039}.		positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCACTCTGTGGAGAATCTTCC	0.602													G|||	1055	0.210663	0.1687	0.2507	5008	,	,		20031	0.1627		0.2744	False		,,,				2504	0.2229				p.P241T		Atlas-SNP	.											.	TBC1D2	70	.	0			c.C721A						PASS	.	G	THR/PRO	785,3621	318.0+/-295.4	79,627,1497	158	142	147		721	0.8	0	9	dbSNP_86	147	2261,6339	381.8+/-340.2	287,1687,2326	yes	missense	TBC1D2	NM_018421.3	38	366,2314,3823	TT,TG,GG		26.2907,17.8166,23.42	benign	241/918	100995758	3046,9960	2203	4300	6503	SO:0001583	missense	55357	exon4			TCTGTGGAGAATC	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.721C>A	9.37:g.100995758G>T	ENSP00000364205:p.Pro241Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	131	81	0.618321	NM_001267571	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		494	0.2261904761904762	79	0.16056910569105692	100	0.27624309392265195	93	0.16258741258741258	222	0.2928759894459103	G	5.827	0.336876	0.11013	0.178166	0.262907	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.15603	2.41;3.15;2.41	4.88	0.842	0.18927	.	0.473238	0.20036	N	0.100610	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	B;P	0.34724	0.335;0.465	B;B	0.31101	0.058;0.124	T	0.45425	-0.9262	9	0.18276	T	0.48	.	4.9031	0.13784	0.2703:0.1646:0.5651:0.0	rs879368;rs52794052;rs58612705;rs879368	241;241	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	T	241;241;23	ENSP00000364205:P241T;ENSP00000364207:P241T;ENSP00000341567:P23T	ENSP00000341567:P23T	P	-	1	0	TBC1D2	100035579	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.811000	0.04500	-0.011000	0.14247	0.655000	0.94253	CCA	G|0.769;T|0.231	0.231	strong		0.602	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		T	100995758	G	T	100995758	3	4	22	1	0	0	0	0	1	0	0	0	15605	1174	41	4	2072	4	TBC1D2	9	100995758	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37	100995758	40217673	5210	10318										
GABBR2	9568	hgsc.bcm.edu	37	chr9	101068580	101068580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttgctgtcgttgagtgcGgggatgctgacgttgcgggt	17	7	0	2	rs2304389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101068580G>A	ENST00000259455.2	-	15	2511	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	684					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGTTGAGTGCGGGGATGCTGA	0.557													G|||	970	0.19369	0.1815	0.2061	5008	,	,		19497	0.1925		0.17	False		,,,				2504	0.227				p.P684P		Atlas-SNP	.											GABBR2,NS,malignant_melanoma,-1,1	GABBR2	126	1	0			c.C2052T						PASS	.	G		737,3669	303.2+/-287.8	63,611,1529	119	80	93		2052	-10.3	0.1	9	dbSNP_100	93	1427,7173	273.0+/-290.4	122,1183,2995	no	coding-synonymous	GABBR2	NM_005458.7		185,1794,4524	AA,AG,GG		16.593,16.7272,16.6385		684/942	101068580	2164,10842	2203	4300	6503	SO:0001819	synonymous_variant	9568	exon15			GAGTGCGGGGATG	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2052C>T	9.37:g.101068580G>A		Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	290	93	0.32069	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																			G|0.831;A|0.169	0.169	strong		0.557	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			A	101068580	G	A	101068580	2	1	22	1	0	0	0	0	0	0	0	1	6156	1103	39	1		1	GABBR2	9	101068580	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72822	101068580	40144851	5211	10319										
GABBR2	9568	hgsc.bcm.edu	37	chr9	101304193	101304193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttgcgtcagcgtgcccaCgcgcttccactggtagtgct	12	14	2	0	rs369347155		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101304193C>T	ENST00000259455.2	-	3	1051	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	198					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.V198L(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCGTGCCCACGCGCTTCCAC	0.522																																					p.V198M		Atlas-SNP	.											GABBR2,NS,carcinoma,0,1	GABBR2	126	1	1	Substitution - Missense(1)	lung(1)	c.G592A						scavenged	.	C	MET/VAL	0,4406		0,0,2203	156	112	127		592	5.1	1	9		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABBR2	NM_005458.7	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	198/942	101304193	1,13005	2203	4300	6503	SO:0001583	missense	9568	exon3			TGCCCACGCGCTT	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.592G>A	9.37:g.101304193C>T	ENSP00000259455:p.Val198Met	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198200	0.94997	0.0	1.16E-4	ENSG00000136928	ENST00000259455	D	0.88277	-2.36	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95024	0.8163	10	0.87932	D	0	-12.6839	16.3412	0.83082	0.0:1.0:0.0:0.0	.	198	O75899	GABR2_HUMAN	M	198	ENSP00000259455:V198M	ENSP00000259455:V198M	V	-	1	0	GABBR2	100344014	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.661000	0.83786	2.538000	0.85594	0.655000	0.94253	GTG	.	.	weak		0.522	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			T	101304193	C	T	101304193	3	4	22	1	0	0	0	0	1	0	0	0	6156	536	19	1	2301	1	GABBR2	9	101304193	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	235613	101304193	39909238	5212	10320										
GABBR2	9568	hgsc.bcm.edu	37	chr9	101340316	101340316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttaggcccgtattttatTgcatcgtagaaggctttcaa	10	7	1	1	rs3750344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101340316T>C	ENST00000259455.2	-	2	819	c.360A>G	c.(358-360)gcA>gcG	p.A120A		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	120					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGTATTTTATTGCATCGTAGA	0.493													t|||	807	0.161142	0.236	0.0908	5008	,	,		21374	0.1508		0.1799	False		,,,				2504	0.1012				p.A120A		Atlas-SNP	.											.	GABBR2	126	.	0			c.A360G						PASS	.			996,3410	373.0+/-320.6	113,770,1320	181	165	171	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	360	2.2	1	9	dbSNP_107	171	1435,7165	274.9+/-291.5	123,1189,2988	no	coding-synonymous	GABBR2	NM_005458.7		236,1959,4308	CC,CT,TT		16.686,22.6055,18.6914		120/942	101340316	2431,10575	2203	4300	6503	SO:0001819	synonymous_variant	9568	exon2			TTTTATTGCATCG	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.360A>G	9.37:g.101340316T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	102	30	0.294118	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																			T|0.809;C|0.191	0.191	strong		0.493	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			C	101340316	T	C	101340316	2	2	22	1	0	0	0	0	0	0	0	1	6156	1799	63	2		2	GABBR2	9	101340316	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36123	101340316	39873115	5213	10321										
GALNT12	79695	hgsc.bcm.edu	37	chr9	101594219	101594219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggagaggatacggatgcaAtcccccgtcgatgtcatcag	13	10	2	1	rs16917929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101594219A>G	ENST00000375011.3	+	4	897	c.897A>G	c.(895-897)caA>caG	p.Q299Q		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	299					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TACGGATGCAATCCCCCGTCG	0.572													A|||	206	0.0411342	0.1513	0.0086	5008	,	,		14266	0.0		0.0	False		,,,				2504	0.0				p.Q299Q		Atlas-SNP	.											.	GALNT12	37	.	0			c.A897G						PASS	.	A		592,3814	257.7+/-262.0	43,506,1654	65	49	54		897	-4	0.6	9	dbSNP_123	54	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GALNT12	NM_024642.4		43,509,5951	GG,GA,AA		0.0349,13.4362,4.5748		299/582	101594219	595,12411	2203	4300	6503	SO:0001819	synonymous_variant	79695	exon4			GATGCAATCCCCC	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.897A>G	9.37:g.101594219A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	89	56	0.629214	NM_024642	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	CCDS6737.1																																																																																			A|0.954;G|0.046	0.046	strong		0.572	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		G	101594219	A	G	101594219	2	3	22	1	0	0	0	0	0	0	0	1	6210	98	4	2		2	GALNT12	9	101594219	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	253903	101594219	39619212	5214	10322										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101748356	101748356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccagcgctggaatcttcAtgggcaatgcaggagctaca	12	10	2	0	rs2075663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101748356A>G	ENST00000375001.3	+	3	1033	c.610A>G	c.(610-612)Atg>Gtg	p.M204V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	204	Laminin G-like.		M -> V (in dbSNP:rs2075663). {ECO:0000269|PubMed:8307960}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGAATCTTCATGGGCAATGC	0.552													G|||	3019	0.602835	0.8064	0.5447	5008	,	,		18380	0.5853		0.4155	False		,,,				2504	0.5798				p.M204V		Atlas-SNP	.											.	COL15A1	211	.	0			c.A610G						PASS	.	G	VAL/MET	3291,1115		1231,829,143	32	34	34		610	4.3	1	9	dbSNP_96	34	3228,5370		616,1996,1687	yes	missense	COL15A1	NM_001855.3	21	1847,2825,1830	GG,GA,AA		37.5436,25.3064,49.8693	benign	204/1389	101748356	6519,6485	2203	4299	6502	SO:0001583	missense	1306	exon3			ATCTTCATGGGCA	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.610A>G	9.37:g.101748356A>G	ENSP00000364140:p.Met204Val	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	1226	0.5613553113553114	396	0.8048780487804879	172	0.47513812154696133	339	0.5926573426573427	319	0.420844327176781	G	10.07	1.249435	0.22880	0.746936	0.375436	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.71222	-0.55	5.25	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.061993	0.64402	N	0.000004	T	0.00012	0.0000	N	0.00024	-2.69	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44802	-0.9304	9	0.02654	T	1	-11.6491	8.8377	0.35121	0.08:0.0:0.7714:0.1485	rs2075663;rs2229801;rs4742754;rs17711315;rs57249290;rs4742754	204;174	P39059;B3KTP7	COFA1_HUMAN;.	V	204;174	ENSP00000364140:M204V	ENSP00000364140:M204V	M	+	1	0	COL15A1	100788177	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	4.927000	0.63440	0.704000	0.31869	-0.128000	0.14901	ATG	A|0.472;C|0.000;G|0.528	0.528	strong		0.552	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		G	101748356	A	G	101748356	3	3	22	1	0	0	0	0	1	0	0	0	3672	217	8	2	620	2	COL15A1	9	101748356	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	154137	101748356	39465075	5215	10323										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101778272	101778272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagggtcctggtgatgaAgaagacttggcagcagccac	13	9	1	4	rs35250850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101778272A>C	ENST00000375001.3	+	11	1941	c.1518A>C	c.(1516-1518)gaA>gaC	p.E506D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	506	4 X tandem repeats.|Nonhelical region 1 (NC1).		E -> D (in dbSNP:rs35250850).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGTGATGAAGAAGACTTGG	0.597													A|||	320	0.0638978	0.1135	0.036	5008	,	,		16463	0.001		0.1004	False		,,,				2504	0.044				p.E506D		Atlas-SNP	.											.	COL15A1	211	.	0			c.A1518C						PASS	.	A	ASP/GLU	403,4003	196.0+/-220.5	15,373,1815	57	55	56		1518	-1	0	9	dbSNP_126	56	705,7895	170.0+/-221.2	30,645,3625	yes	missense	COL15A1	NM_001855.3	45	45,1018,5440	CC,CA,AA		8.1977,9.1466,8.5191	benign	506/1389	101778272	1108,11898	2203	4300	6503	SO:0001583	missense	1306	exon11			TGATGAAGAAGAC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1518A>C	9.37:g.101778272A>C	ENSP00000364140:p.Glu506Asp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	116	28	0.241379	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	131	0.059981684981684984	43	0.08739837398373984	15	0.04143646408839779	1	0.0017482517482517483	72	0.09498680738786279	A	4.651	0.121027	0.08881	0.091466	0.081977	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89681	-2.55	3.08	-1.03	0.10102	.	4.968620	0.01193	N	0.007377	T	0.19765	0.0475	L	0.48642	1.525	0.09310	N	1	B	0.28026	0.198	B	0.24006	0.05	T	0.51764	-0.8664	10	0.16420	T	0.52	.	6.0688	0.19877	0.5556:0.0:0.4444:0.0	rs35250850;rs62561254	506	P39059	COFA1_HUMAN	D	506;476	ENSP00000364140:E506D	ENSP00000364140:E506D	E	+	3	2	COL15A1	100818093	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.241000	0.02911	-0.312000	0.08741	-0.267000	0.10333	GAA	A|0.927;C|0.073	0.073	strong		0.597	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		C	101778272	A	C	101778272	3	2	22	1	0	0	0	0	1	0	0	0	3672	69	3	5	1560	5	COL15A1	9	101778272	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29916	101778272	39435159	5216	10324										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101816873	101816873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggtgttaaaggagagaAaggatcctggggtcttcctg	16	6	1	1	rs35642150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101816873A>G	ENST00000375001.3	+	32	3389	c.2966A>G	c.(2965-2967)aAa>aGa	p.K989R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	989	Triple-helical region 6 (COL6).		K -> R (in dbSNP:rs35642150).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAAGGAGAGAAAGGATCCTGG	0.433													A|||	71	0.0141773	0.0514	0.0043	5008	,	,		19547	0.0		0.0	False		,,,				2504	0.0				p.K989R		Atlas-SNP	.											.	COL15A1	211	.	0			c.A2966G						PASS	.	A	ARG/LYS	123,4283	91.1+/-129.8	1,121,2081	79	84	82		2966	5.7	1	9	dbSNP_126	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL15A1	NM_001855.3	26	1,122,6380	GG,GA,AA		0.0116,2.7916,0.9534	probably-damaging	989/1389	101816873	124,12882	2203	4300	6503	SO:0001583	missense	1306	exon32			GAGAGAAAGGATC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2966A>G	9.37:g.101816873A>G	ENSP00000364140:p.Lys989Arg	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	134	94	0.701493	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	A	16.86	3.239791	0.58995	0.027916	1.16E-4	ENSG00000204291	ENST00000375001	T	0.30448	1.53	5.67	5.67	0.87782	C-type lectin fold (1);	0.172969	0.41396	D	0.000883	T	0.13030	0.0316	L	0.33753	1.03	0.41059	D	0.985365	D	0.63880	0.993	D	0.72625	0.978	T	0.02560	-1.1141	10	0.20046	T	0.44	-17.3435	12.5857	0.56416	1.0:0.0:0.0:0.0	rs35642150	989	P39059	COFA1_HUMAN	R	989	ENSP00000364140:K989R	ENSP00000364140:K989R	K	+	2	0	COL15A1	100856694	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.712000	0.37940	2.288000	0.76882	0.533000	0.62120	AAA	A|0.988;G|0.012	0.012	strong		0.433	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		G	101816873	A	G	101816873	3	3	22	1	0	0	0	0	1	0	0	0	3672	14	1	2	3092	2	COL15A1	9	101816873	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38601	101816873	39396558	5217	10325										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101822220	101822220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacagccagggcttccCggatccagaaacctggtcag	12	14	1	1	rs4480177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:101822220C>T	ENST00000375001.3	+	36	3810	c.3387C>T	c.(3385-3387)ccC>ccT	p.P1129P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1129	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGGCTTCCCGGATCCAGAA	0.463													C|||	1930	0.385383	0.4024	0.3473	5008	,	,		15742	0.5268		0.2038	False		,,,				2504	0.4305				p.P1129P		Atlas-SNP	.											.	COL15A1	211	.	0			c.C3387T						PASS	.	C		1684,2722	512.4+/-368.1	327,1030,846	138	135	136		3387	-11.1	0.1	9	dbSNP_111	136	1741,6859	317.0+/-313.0	183,1375,2742	no	coding-synonymous	COL15A1	NM_001855.3		510,2405,3588	TT,TC,CC		20.2442,38.2206,26.334		1129/1389	101822220	3425,9581	2203	4300	6503	SO:0001819	synonymous_variant	1306	exon36			GCTTCCCGGATCC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3387C>T	9.37:g.101822220C>T		Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	218	139	0.637615	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																			C|0.706;T|0.294	0.294	strong		0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101822220	C	T	101822220	2	4	22	1	0	0	0	0	0	0	0	1	3672	639	23	1		1	COL15A1	9	101822220	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5347	101822220	39391211	5218	10326										
TEX10	54881	hgsc.bcm.edu	37	chr9	103064530	103064530	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccagtgatatacacgttGaagcagtaatgtaagtctgt	10	7	1	2	rs7472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:103064530G>A	ENST00000374902.4	-	15	2909	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F	TEX10_ENST00000535814.1_Silent_p.F895F|TEX10_ENST00000477648.1_5'UTR	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	911						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATACACGTTGAAGCAGTAAT	0.448													G|||	3140	0.626997	0.6188	0.611	5008	,	,		18565	0.8542		0.329	False		,,,				2504	0.7219				p.F911F		Atlas-SNP	.											.	TEX10	99	.	0			c.C2733T						PASS	.	G	,	2581,1825	638.1+/-396.9	750,1081,372	153	130	137		2685,2733	5.3	1	9	dbSNP_52	137	2933,5667	456.2+/-364.0	503,1927,1870	no	coding-synonymous,coding-synonymous	TEX10	NM_001161584.1,NM_017746.3	,	1253,3008,2242	AA,AG,GG		34.1047,41.4208,42.3958	,	895/914,911/930	103064530	5514,7492	2203	4300	6503	SO:0001819	synonymous_variant	54881	exon15			CACGTTGAAGCAG	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2733C>T	9.37:g.103064530G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																			G|0.502;A|0.498	0.498	strong		0.448	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		A	103064530	G	A	103064530	2	1	22	1	0	0	0	0	0	0	0	1	15769	1281	45	2		2	TEX10	9	103064530	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1242310	103064530	38148901	5219	10327										
MURC	347273	hgsc.bcm.edu	37	chr9	103348634	103348634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcctccccatgaaggaagGgaaatccccacccccgagcc	8	17	0	1	rs2780956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:103348634G>A	ENST00000307584.5	+	2	1061	c.996G>A	c.(994-996)agG>agA	p.R332R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	332					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				ATGAAGGAAGGGAAATCCCCA	0.483													G|||	1469	0.293331	0.2405	0.4784	5008	,	,		15010	0.0804		0.4254	False		,,,				2504	0.317				p.R332R		Atlas-SNP	.											.	MURC	43	.	0			c.G996A						PASS	.	G		1353,3053	445.9+/-347.8	209,935,1059	48	51	50		996	3.4	0.2	9	dbSNP_100	50	3583,5017	516.7+/-378.9	729,2125,1446	no	coding-synonymous	MURC	NM_001018116.1		938,3060,2505	AA,AG,GG		41.6628,30.7081,37.9517		332/365	103348634	4936,8070	2203	4300	6503	SO:0001819	synonymous_variant	347273	exon2			AGGAAGGGAAATC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.996G>A	9.37:g.103348634G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	52	31	0.596154	NM_001018116	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																			G|0.649;A|0.351	0.351	strong		0.483	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		A	103348634	G	A	103348634	2	1	22	1	0	0	0	0	0	0	0	1	9987	1223	43	2		2	MURC	9	103348634	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	284104	103348634	37864797	5220	10328										
ZNF189	7743	hgsc.bcm.edu	37	chr9	104170580	104170580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactggtgagaaaccttttcAgtgcaatgaatgtgggaaaa	11	5	1	2	rs148414030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:104170580A>G	ENST00000339664.2	+	3	659	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	ZNF189_ENST00000259395.4_Missense_Mutation_p.Q135R|ZNF189_ENST00000374861.3_Missense_Mutation_p.Q163R	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	177					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCTTTTCAGTGCAATGAA	0.408													A|||	6	0.00119808	0.0045	0.0	5008	,	,		21632	0.0		0.0	False		,,,				2504	0.0				p.Q177R		Atlas-SNP	.											.	ZNF189	79	.	0			c.A530G						PASS	.	A	ARG/GLN,ARG/GLN	19,4387	25.3+/-52.1	0,19,2184	82	82	82		530,404	4.6	1	9	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	ZNF189	NM_003452.2,NM_197977.1	43,43	0,19,6484	GG,GA,AA		0.0,0.4312,0.1461	benign,benign	177/627,135/585	104170580	19,12987	2203	4300	6503	SO:0001583	missense	7743	exon3			CTTTTCAGTGCAA	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.530A>G	9.37:g.104170580A>G	ENSP00000342019:p.Gln177Arg	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	158	102	0.64557	NM_003452	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	9.515	1.106655	0.20714	0.004312	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19105	2.17;2.17;2.17	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000288	T	0.18841	0.0452	N	0.13235	0.315	0.27578	N	0.949673	B;B;B	0.34372	0.056;0.451;0.262	B;P;B	0.47102	0.115;0.537;0.115	T	0.10359	-1.0633	10	0.54805	T	0.06	.	7.7508	0.28896	0.8138:0.0:0.0:0.1862	.	162;163;177	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	R	163;177;135	ENSP00000363995:Q163R;ENSP00000342019:Q177R;ENSP00000259395:Q135R	ENSP00000259395:Q135R	Q	+	2	0	ZNF189	103210401	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	0.093000	0.15086	2.272000	0.75746	0.460000	0.39030	CAG	A|0.998;G|0.002	0.002	strong		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		G	104170580	A	G	104170580	3	3	22	1	0	0	0	0	1	0	0	0	17751	188	7	3	540	3	ZNF189	9	104170580	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	821946	104170580	37042851	5221	10329										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104335682	104335682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggatgtcctggtggatcCggatgcccagctggttttgt	17	8	0	0	rs3739722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:104335682C>T	ENST00000361820.3	-	9	3722	c.3122G>A	c.(3121-3123)cGg>cAg	p.R1041Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1041			R -> Q (in dbSNP:rs3739722). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:15489334}.		calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGGTGGATCCGGATGCCCAG	0.522													C|||	933	0.186302	0.2171	0.2046	5008	,	,		20654	0.2579		0.1173	False		,,,				2504	0.1288				p.R1041Q		Atlas-SNP	.											.	GRIN3A	186	.	0			c.G3122A						PASS	.	C	GLN/ARG	933,3473	356.9+/-313.7	104,725,1374	152	139	144		3122	-4	0	9	dbSNP_107	144	1126,7474	233.0+/-266.5	88,950,3262	yes	missense	GRIN3A	NM_133445.2	43	192,1675,4636	TT,TC,CC		13.093,21.1757,15.8312	benign	1041/1116	104335682	2059,10947	2203	4300	6503	SO:0001583	missense	116443	exon9			TGGATCCGGATGC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3122G>A	9.37:g.104335682C>T	ENSP00000355155:p.Arg1041Gln	Somatic	232	1	0.00431034		WXS	Illumina HiSeq	Phase_I	251	154	0.613546	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	421	0.19276556776556777	111	0.22560975609756098	63	0.17403314917127072	150	0.26223776223776224	97	0.1279683377308707	C	10.40	1.340250	0.24339	0.211757	0.13093	ENSG00000198785	ENST00000361820	T	0.09911	2.93	5.46	-3.96	0.04106	.	0.924765	0.09105	N	0.847883	T	0.00012	0.0000	M	0.66939	2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42155	-0.9468	9	0.18710	T	0.47	.	13.8051	0.63225	0.0:0.3847:0.0:0.6153	rs3739722;rs52800836;rs59648517;rs3739722	1041	Q8TCU5	NMD3A_HUMAN	Q	1041	ENSP00000355155:R1041Q	ENSP00000355155:R1041Q	R	-	2	0	GRIN3A	103375503	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	-1.991000	0.01478	-0.711000	0.04995	-0.136000	0.14681	CGG	C|0.831;T|0.169	0.169	strong		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104335682	C	T	104335682	3	4	22	1	0	0	0	0	1	0	0	0	6783	652	23	1	229	1	GRIN3A	9	104335682	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	165102	104335682	36877749	5222	10330										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104385646	104385646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagaagtttgcagtcagcAtctattgacacttcataatc	8	8	3	2	rs138253972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:104385646A>G	ENST00000361820.3	-	5	3168	c.2568T>C	c.(2566-2568)gaT>gaC	p.D856D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	856					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGCAGTCAGCATCTATTGACA	0.413													A|||	5	0.000998403	0.0023	0.0029	5008	,	,		18756	0.0		0.0	False		,,,				2504	0.0				p.D856D		Atlas-SNP	.											.	GRIN3A	186	.	0			c.T2568C						PASS	.	A		7,4399	12.9+/-30.5	0,7,2196	165	149	154		2568	1.7	1	9	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,7,6496	GG,GA,AA		0.0,0.1589,0.0538		856/1116	104385646	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	116443	exon5			GTCAGCATCTATT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2568T>C	9.37:g.104385646A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	183	121	0.661202	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																			A|1.000;G|0.000	0.000	strong		0.413	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104385646	A	G	104385646	2	3	22	1	0	0	0	0	0	0	0	1	6783	214	8	2		2	GRIN3A	9	104385646	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49964	104385646	36827785	5223	10331										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104432462	104432462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcccaaaggttcattagAaaccttccagtccaacattt	6	11	1	1	rs200841145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:104432462A>G	ENST00000361820.3	-	3	2832	c.2232T>C	c.(2230-2232)ttT>ttC	p.F744F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	744					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGTTCATTAGAAACCTTCCAG	0.433													A|||	3	0.000599042	0.0015	0.0014	5008	,	,		19652	0.0		0.0	False		,,,				2504	0.0				p.F744F		Atlas-SNP	.											.	GRIN3A	186	.	0			c.T2232C						PASS	.	A		3,4403	6.2+/-15.9	0,3,2200	90	86	87		2232	5.4	1	9		87	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,3,6500	GG,GA,AA		0.0,0.0681,0.0231		744/1116	104432462	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	116443	exon3			CATTAGAAACCTT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2232T>C	9.37:g.104432462A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	79	48	0.607595	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																			A|1.000;G|0.000	0.000	strong		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104432462	A	G	104432462	2	3	22	1	0	0	0	0	0	0	0	1	6783	243	9	2		2	GRIN3A	9	104432462	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46816	104432462	36780969	5224	10332										
SMC2	10592	hgsc.bcm.edu	37	chr9	106888978	106888978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagagagcatacatcttaCaaacaacagcttgaagctgt	8	8	1	3	rs6479217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:106888978C>T	ENST00000286398.7	+	19	2796	c.2508C>T	c.(2506-2508)taC>taT	p.Y836Y	SMC2_ENST00000374787.3_Silent_p.Y836Y|SMC2_ENST00000374793.3_Silent_p.Y836Y|SMC2_ENST00000303219.8_Silent_p.Y836Y	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	836					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATACATCTTACAAACAACAGC	0.348													C|||	326	0.0650958	0.2209	0.013	5008	,	,		16974	0.0129		0.007	False		,,,				2504	0.0051				p.Y836Y		Atlas-SNP	.											.	SMC2	127	.	0			c.C2508T						PASS	.	C	,,	745,3661	303.5+/-288.0	55,635,1513	82	83	83		2508,2508,2508	-0.1	0	9	dbSNP_116	83	62,8538	38.8+/-94.9	0,62,4238	no	coding-synonymous,coding-synonymous,coding-synonymous	SMC2	NM_001042550.1,NM_001042551.1,NM_006444.2	,,	55,697,5751	TT,TC,CC		0.7209,16.9088,6.2048	,,	836/1198,836/1198,836/1198	106888978	807,12199	2203	4300	6503	SO:0001819	synonymous_variant	10592	exon19			ATCTTACAAACAA	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2508C>T	9.37:g.106888978C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	41	8	0.195122	NM_006444	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																			C|0.935;T|0.065	0.065	strong		0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			T	106888978	C	T	106888978	2	4	22	1	0	0	0	0	0	0	0	1	14783	489	17	2		2	SMC2	9	106888978	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2456516	106888978	34324453	5225	10333										
SMC2	10592	hgsc.bcm.edu	37	chr9	106896809	106896809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagttcaaggttgccttGggaaatacctggaaagaaaa	12	6	1	1	rs7872034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:106896809G>A	ENST00000286398.7	+	23	3510	c.3222G>A	c.(3220-3222)ttG>ttA	p.L1074L	SMC2_ENST00000374787.3_Silent_p.L1074L|SMC2_ENST00000303219.8_Silent_p.L1074L|SMC2_ENST00000374793.3_Silent_p.L1074L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1074					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGGTTGCCTTGGGAAATACCT	0.393													A|||	2532	0.505591	0.7943	0.4063	5008	,	,		15029	0.2044		0.5746	False		,,,				2504	0.4254				p.L1074L		Atlas-SNP	.											.	SMC2	127	.	0			c.G3222A						PASS	.	A	,,	3270,1136	404.2+/-333.0	1211,848,144	111	116	114		3222,3222,3222	3.6	1	9	dbSNP_116	114	4843,3757	534.0+/-382.5	1403,2037,860	no	coding-synonymous,coding-synonymous,coding-synonymous	SMC2	NM_001042550.1,NM_001042551.1,NM_006444.2	,,	2614,2885,1004	AA,AG,GG		43.686,25.783,37.6211	,,	1074/1198,1074/1198,1074/1198	106896809	8113,4893	2203	4300	6503	SO:0001819	synonymous_variant	10592	exon23			TGCCTTGGGAAAT	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3222G>A	9.37:g.106896809G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	82	81	0.987805	NM_006444	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																			G|0.502;A|0.498	0.498	strong		0.393	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106896809	G	A	106896809	2	1	22	1	0	0	0	0	0	0	0	1	14783	1339	47	2		2	SMC2	9	106896809	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7831	106896809	34316622	5226	10334										
SMC2	10592	hgsc.bcm.edu	37	chr9	106901506	106901506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggatggtgtttctacagtAgccagatttactcaatgtca	10	7	3	1	rs16923746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:106901506A>G	ENST00000286398.7	+	25	3792	c.3504A>G	c.(3502-3504)gtA>gtG	p.V1168V	SMC2_ENST00000374787.3_Silent_p.V1168V|SMC2_ENST00000374793.3_Silent_p.V1168V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1168					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTTCTACAGTAGCCAGATTTA	0.363													A|||	326	0.0650958	0.2209	0.013	5008	,	,		15837	0.0129		0.007	False		,,,				2504	0.0051				p.V1168V		Atlas-SNP	.											.	SMC2	127	.	0			c.A3504G						PASS	.	A	,,	742,3664	302.7+/-287.5	56,630,1517	89	89	89		3504,3504,3504	-3	1	9	dbSNP_123	89	62,8538	39.3+/-95.6	0,62,4238	no	coding-synonymous,coding-synonymous,coding-synonymous	SMC2	NM_001042550.1,NM_001042551.1,NM_006444.2	,,	56,692,5755	GG,GA,AA		0.7209,16.8407,6.1818	,,	1168/1198,1168/1198,1168/1198	106901506	804,12202	2203	4300	6503	SO:0001819	synonymous_variant	10592	exon25			TACAGTAGCCAGA	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3504A>G	9.37:g.106901506A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	194	66	0.340206	NM_006444	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																			A|0.935;G|0.065	0.065	strong		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			G	106901506	A	G	106901506	2	3	22	1	0	0	0	0	0	0	0	1	14783	407	15	3		3	SMC2	9	106901506	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4697	106901506	34311925	5227	10335										
OR13F1	138805	hgsc.bcm.edu	37	chr9	107266813	107266813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactttgtttcagggagaaaCactatttcattctcagggtg	9	7	3	1	rs61754949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107266813C>T	ENST00000334726.2	+	1	359	c.270C>T	c.(268-270)aaC>aaT	p.N90N		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGGGAGAAACACTATTTCAT	0.517													C|||	55	0.0109824	0.0401	0.0029	5008	,	,		20598	0.0		0.0	False		,,,				2504	0.0				p.N90N		Atlas-SNP	.											.	OR13F1	75	.	0			c.C270T						PASS	.	C		161,4245	108.2+/-146.6	3,155,2045	132	117	122		270	2.2	0.9	9	dbSNP_129	122	0,8600		0,0,4300	no	coding-synonymous	OR13F1	NM_001004485.1		3,155,6345	TT,TC,CC		0.0,3.6541,1.2379		90/320	107266813	161,12845	2203	4300	6503	SO:0001819	synonymous_variant	138805	exon1			GAGAAACACTATT		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.270C>T	9.37:g.107266813C>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	168	47	0.279762	NM_001004485	Q6IF50	Silent	SNP	ENST00000334726.2	37	CCDS35087.1																																																																																			C|0.987;T|0.013	0.013	strong		0.517	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			T	107266813	C	T	107266813	2	4	22	1	0	0	0	0	0	0	0	1	10941	477	17	2		2	OR13F1	9	107266813	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	365307	107266813	33946618	5228	10336										
OR13F1	138805	hgsc.bcm.edu	37	chr9	107267352	107267352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgtagattcacaggaaaTagacaaatttatggctttgg	10	6	1	2	rs7847413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107267352T>C	ENST00000334726.2	+	1	898	c.809T>C	c.(808-810)aTa>aCa	p.I270T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	270			I -> T (in dbSNP:rs7847413).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCACAGGAAATAGACAAATTT	0.468													T|||	1178	0.235224	0.3457	0.1427	5008	,	,		17624	0.3284		0.1054	False		,,,				2504	0.1892				p.I270T		Atlas-SNP	.											.	OR13F1	75	.	0			c.T809C						PASS	.	T	THR/ILE	1394,3012	458.2+/-351.9	217,960,1026	86	84	84		809	1.9	0.9	9	dbSNP_116	84	852,7748	194.2+/-239.7	52,748,3500	yes	missense	OR13F1	NM_001004485.1	89	269,1708,4526	CC,CT,TT		9.907,31.6387,17.269	benign	270/320	107267352	2246,10760	2203	4300	6503	SO:0001583	missense	138805	exon1			AGGAAATAGACAA		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.809T>C	9.37:g.107267352T>C	ENSP00000334452:p.Ile270Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	118	44	0.372881	NM_001004485	Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	471	0.21565934065934067	160	0.3252032520325203	43	0.11878453038674033	188	0.32867132867132864	80	0.10554089709762533	T	6.365	0.435499	0.12045	0.316387	0.09907	ENSG00000186881	ENST00000334726	T	0.00115	8.71	4.3	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.265123	0.27613	N	0.018596	T	0.00012	0.0000	N	0.11000	0.08	0.46631	P	8.629999999999471E-4	B	0.16166	0.016	B	0.18871	0.023	T	0.00102	-1.2062	9	0.22706	T	0.39	.	7.4916	0.27464	0.0:0.1872:0.0:0.8128	rs7847413;rs52823428;rs7847413	270	Q8NGS4	O13F1_HUMAN	T	270	ENSP00000334452:I270T	ENSP00000334452:I270T	I	+	2	0	OR13F1	106307173	0.000000	0.05858	0.942000	0.38095	0.995000	0.86356	0.026000	0.13599	0.419000	0.25927	0.533000	0.62120	ATA	T|0.794;C|0.206	0.206	strong		0.468	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			C	107267352	T	C	107267352	3	2	22	1	0	0	0	0	1	0	0	0	10941	1406	49	2	811	2	OR13F1	9	107267352	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	539	107267352	33946079	5229	10337										
OR13C4	138804	hgsc.bcm.edu	37	chr9	107289352	107289352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatccaagatgcttgctaTgatcagaacaccattgccaa	7	10	1	4	rs61738891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107289352T>C	ENST00000277216.3	-	1	138	c.139A>G	c.(139-141)Ata>Gta	p.I47V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGCTTGCTATGATCAGAACA	0.438													T|||	43	0.00858626	0.0318	0.0014	5008	,	,		22015	0.0		0.0	False		,,,				2504	0.0				p.I47V		Atlas-SNP	.											.	OR13C4	55	.	0			c.A139G						PASS	.	T	VAL/ILE	119,4287	89.2+/-127.9	1,117,2085	149	127	134		139	1.9	0.6	9	dbSNP_129	134	0,8600		0,0,4300	yes	missense	OR13C4	NM_001001919.1	29	1,117,6385	CC,CT,TT		0.0,2.7009,0.915	benign	47/319	107289352	119,12887	2203	4300	6503	SO:0001583	missense	138804	exon1			TTGCTATGATCAG		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.139A>G	9.37:g.107289352T>C	ENSP00000277216:p.Ile47Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	82	32	0.390244	NM_001001919	Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	CCDS35088.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	T	4.428	0.079162	0.08533	0.027009	0.0	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.03889	3.77	4.45	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.410669	0.20335	U	0.094356	T	0.00815	0.0027	N	0.10782	0.045	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.44772	-0.9306	10	0.40728	T	0.16	.	3.6631	0.08246	0.3365:0.0958:0.0:0.5676	.	47	Q8NGS5	O13C4_HUMAN	V	47;76	ENSP00000277216:I47V	ENSP00000277216:I47V	I	-	1	0	OR13C4	106329173	0.000000	0.05858	0.607000	0.28956	0.763000	0.43281	-0.351000	0.07711	0.256000	0.21614	0.482000	0.46254	ATA	T|0.992;C|0.008	0.008	strong		0.438	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			C	107289352	T	C	107289352	3	2	22	1	0	0	0	0	1	0	0	0	10936	1464	51	2	819	2	OR13C4	9	107289352	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22000	107289352	33924079	5230	10338										
OR13C5	138799	hgsc.bcm.edu	37	chr9	107360922	107360922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacttgggcttcatgtacAtgaggaagatggtcccacag	13	8	1	3	rs1851724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107360922A>G	ENST00000374779.2	-	1	866	c.773T>C	c.(772-774)aTg>aCg	p.M258T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTTCATGTACATGAGGAAGAT	0.443													A|||	3390	0.676917	0.7466	0.5937	5008	,	,		20659	0.9573		0.4235	False		,,,				2504	0.6135				p.M258T		Atlas-SNP	.											OR13C5,NS,lymphoid_neoplasm,0,1	OR13C5	60	1	0			c.T773C						PASS	.	A	THR/MET	3165,1241	706.6+/-407.4	1144,877,182	137	123	128		773	4	0.9	9	dbSNP_92	128	3648,4952	525.3+/-380.7	806,2036,1458	yes	missense	OR13C5	NM_001004482.1	81	1950,2913,1640	GG,GA,AA		42.4186,28.1661,47.6165	possibly-damaging	258/319	107360922	6813,6193	2203	4300	6503	SO:0001583	missense	138799	exon1			ATGTACATGAGGA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.773T>C	9.37:g.107360922A>G	ENSP00000363911:p.Met258Thr	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	217	141	0.64977	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	1440	0.6593406593406593	349	0.709349593495935	207	0.5718232044198895	550	0.9615384615384616	334	0.44063324538258575	A	14.53	2.562208	0.45694	0.718339	0.424186	ENSG00000255800	ENST00000374779	T	0.00164	8.64	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00012	0.0000	L	0.41492	1.28	0.45806	P	0.0013180000000000414	P	0.39601	0.68	P	0.45406	0.479	T	0.48536	-0.9027	9	0.51188	T	0.08	.	6.0217	0.19632	0.8838:0.0:0.1162:0.0	rs1851724;rs52797012;rs61541229;rs1851724	258	Q8NGS8	O13C5_HUMAN	T	258	ENSP00000363911:M258T	ENSP00000363911:M258T	M	-	2	0	OR13C5	106400743	0.036000	0.19791	0.947000	0.38551	0.290000	0.27261	1.107000	0.31110	1.704000	0.51252	0.347000	0.21830	ATG	A|0.421;G|0.579	0.579	strong		0.443	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107360922	A	G	107360922	3	3	22	1	0	0	0	0	1	0	0	0	10937	217	8	2	185	2	OR13C5	9	107360922	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71570	107360922	33852509	5231	10339			16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361009	107361009	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctcccctccgaagagCtaattttgaagatgctcaaa	7	11	2	3	rs73508187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361009C>G	ENST00000374779.2	-	1	779	c.686G>C	c.(685-687)aGc>aCc	p.S229T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCGAAGAGCTAATTTTGAA	0.428													C|||	65	0.0129792	0.0454	0.0072	5008	,	,		22160	0.0		0.0	False		,,,				2504	0.0				p.S229T		Atlas-SNP	.											.	OR13C5	60	.	0			c.G686C						PASS	.	C	THR/SER	125,4281	92.5+/-131.2	0,125,2078	122	115	117		686	-1.2	0	9	dbSNP_130	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR13C5	NM_001004482.1	58	0,126,6377	GG,GC,CC		0.0116,2.837,0.9688	benign	229/319	107361009	126,12880	2203	4300	6503	SO:0001583	missense	138799	exon1			GAAGAGCTAATTT		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.686G>C	9.37:g.107361009C>G	ENSP00000363911:p.Ser229Thr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	210	132	0.628571	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	C	10.96	1.499301	0.26861	0.02837	1.16E-4	ENSG00000255800	ENST00000374779	T	0.38722	1.12	4.03	-1.21	0.09524	GPCR, rhodopsin-like superfamily (1);	1.008970	0.07986	U	0.986370	T	0.05777	0.0151	L	0.29908	0.895	0.09310	N	1	B	0.22800	0.075	B	0.32022	0.139	T	0.36915	-0.9728	10	0.59425	D	0.04	.	5.1916	0.15212	0.0:0.2959:0.4158:0.2883	.	229	Q8NGS8	O13C5_HUMAN	T	229	ENSP00000363911:S229T	ENSP00000363911:S229T	S	-	2	0	OR13C5	106400830	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-5.456000	0.00121	-0.113000	0.11958	0.423000	0.28283	AGC	C|0.990;G|0.010	0.010	strong		0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107361009	C	G	107361009	3	3	22	1	0	0	0	0	1	0	0	0	10937	797	28	4	272	4	OR13C5	9	107361009	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87	107361009	33852422	5232	10340			16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361038	107361038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgctcaaaatgattaaCgtgtaagagacaataattaa	7	4	1	3	rs75872480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361038C>T	ENST00000374779.2	-	1	750	c.657G>A	c.(655-657)acG>acA	p.T219T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAATGATTAACGTGTAAGAGA	0.428													C|||	14	0.00279553	0.0106	0.0	5008	,	,		22708	0.0		0.0	False		,,,				2504	0.0				p.T219T		Atlas-SNP	.											OR13C5,NS,haematopoietic_neoplasm,-1,1	OR13C5	60	1	0			c.G657A						PASS	.	C		24,4382	30.8+/-60.4	0,24,2179	131	124	127		657	-8.1	0	9	dbSNP_131	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C5	NM_001004482.1		0,25,6478	TT,TC,CC		0.0116,0.5447,0.1922		219/319	107361038	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	138799	exon1			GATTAACGTGTAA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.657G>A	9.37:g.107361038C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	212	134	0.632075	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	CCDS35091.1																																																																																			C|0.998;T|0.002	0.002	strong		0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		T	107361038	C	T	107361038	2	4	22	1	0	0	0	0	0	0	0	1	10937	523	19	1		1	OR13C5	9	107361038	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29	107361038	33852393	5233	10341			16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361312	107361312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgggatatctcagagggTtgcagatagccacatagcgg	14	7	1	3	rs1851723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361312T>C	ENST00000374779.2	-	1	476	c.383A>G	c.(382-384)aAc>aGc	p.N128S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCTCAGAGGGTTGCAGATAGC	0.522													T|||	1208	0.241214	0.1006	0.366	5008	,	,		20196	0.3819		0.2445	False		,,,				2504	0.1943				p.N128S		Atlas-SNP	.											.	OR13C5	60	.	0			c.A383G						PASS	.	T	SER/ASN	649,3757		108,433,1662	74	102	93		383	3	0.9	9	dbSNP_92	93	2026,6574		283,1460,2557	no	missense	OR13C5	NM_001004482.1	46	391,1893,4219	CC,CT,TT		23.5581,14.7299,20.5674	possibly-damaging	128/319	107361312	2675,10331	2203	4300	6503	SO:0001583	missense	138799	exon1			AGAGGGTTGCAGA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.383A>G	9.37:g.107361312T>C	ENSP00000363911:p.Asn128Ser	Somatic	444	2	0.0045045		WXS	Illumina HiSeq	Phase_I	455	281	0.617582	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	611	0.27976190476190477	56	0.11382113821138211	127	0.35082872928176795	225	0.39335664335664333	203	0.2678100263852243	T	5.443	0.266842	0.10294	0.147299	0.235581	ENSG00000255800	ENST00000374779	T	0.01313	5.02	4.17	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.617973	0.13202	N	0.405869	T	0.00012	0.0000	L	0.39020	1.185	0.80722	P	0.0	B	0.24317	0.101	B	0.25884	0.064	T	0.40905	-0.9538	9	0.37606	T	0.19	.	3.444	0.07474	0.1978:0.1083:0.0:0.6939	rs1851723;rs59632018	128	Q8NGS8	O13C5_HUMAN	S	128	ENSP00000363911:N128S	ENSP00000363911:N128S	N	-	2	0	OR13C5	106401133	0.000000	0.05858	0.937000	0.37676	0.088000	0.18126	-0.341000	0.07811	0.669000	0.31146	-0.430000	0.05897	AAC	.	.	weak		0.522	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		C	107361312	T	C	107361312	3	2	22	1	0	0	0	0	1	0	0	0	10937	1725	60	2	575	2	OR13C5	9	107361312	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	274	107361312	33852119	5234	10342			16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361439	107361439	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggtctttctttctgaaaGgaagctcactagcgtggagg					rs4629933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361439G>C	ENST00000374779.2	-	1	349	c.256C>G	c.(256-258)Ctt>Gtt	p.L86V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	86			L -> V (in dbSNP:rs4629933).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTTTCTGAAAGGAAGCTCACT	0.527													G|||	3389	0.676717	0.7504	0.5937	5008	,	,		20678	0.9573		0.4225	False		,,,				2504	0.6084				p.L86V		Atlas-SNP	.											.	OR13C5	60	.	0			c.C256G						PASS	.						27	42	37					9																	107361439		2189	4294	6483	SO:0001583	missense	138799	exon1			CTGAAAGGAAGCT		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.256C>G	9.37:g.107361439G>C	ENSP00000363911:p.Leu86Val	Somatic	693	1	0.001443		WXS	Illumina HiSeq	Phase_I	666	298	0.447447	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	1384	0.6336996336996337	336	0.6829268292682927	201	0.5552486187845304	521	0.9108391608391608	326	0.43007915567282323	G	14.72	2.618900	0.46736	.	.	ENSG00000255800	ENST00000374779	T	0.01369	4.97	4.03	-8.0	0.01126	GPCR, rhodopsin-like superfamily (1);	0.289560	0.17451	U	0.173772	T	0.00012	0.0000	L	0.48877	1.53	0.80722	P	0.0	P	0.51791	0.948	B	0.42555	0.391	T	0.48570	-0.9024	9	0.32370	T	0.25	.	1.5125	0.02499	0.1543:0.3065:0.2305:0.3087	rs4629933;rs7025562	86	Q8NGS8	O13C5_HUMAN	V	86	ENSP00000363911:L86V	ENSP00000363911:L86V	L	-	1	0	OR13C5	106401260	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-1.382000	0.02546	-1.158000	0.02811	0.531000	0.56144	CTT	G|0.308;C|0.692	0.692	strong		0.527	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		C	107361439	G	C	107361439	3	2	22	1	0	0	0	0	1	0	0	0	10937	1000	35	4	702	4	OR13C5	9	107361439	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	127	107361439	33851992	5235	10343	214	4	16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361449	107361449	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctgaaaggaagctcacTagcgtggagggaatagaggt					rs146576115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361449T>C	ENST00000374779.2	-	1	339	c.246A>G	c.(244-246)ctA>ctG	p.L82L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GGAAGCTCACTAGCGTGGAGG	0.517													C|||	3407	0.680312	0.761	0.5937	5008	,	,		20749	0.9573		0.4225	False		,,,				2504	0.6125				p.L82L		Atlas-SNP	.											.	OR13C5	60	.	0			c.A246G						PASS	.						17	31	26					9																	107361449		2130	4279	6409	SO:0001819	synonymous_variant	138799	exon1			GCTCACTAGCGTG		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.246A>G	9.37:g.107361449T>C		Somatic	752	2	0.00265957		WXS	Illumina HiSeq	Phase_I	705	293	0.415603	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	CCDS35091.1																																																																																			.	.	weak		0.517	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		C	107361449	T	C	107361449	2	2	22	1	0	0	0	0	0	0	0	1	10937	1509	53	3		3	OR13C5	9	107361449	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	107361449	33851982	5236	10344	214	4	16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361451	107361451	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgaaaggaagctcactaGcgtggagggaatagaggtgg					rs376107801|rs201540433|rs377523807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361451G>A	ENST00000374779.2	-	1	337	c.244C>T	c.(244-246)Cta>Tta	p.L82L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGA	0.512													A|||	3407	0.680312	0.761	0.5937	5008	,	,		19219	0.9573		0.4225	False		,,,				2504	0.6125				p.L82L		Atlas-SNP	.											.	OR13C5	60	.	0			c.C244T						PASS	.																																			SO:0001819	synonymous_variant	138799	exon1			TCACTAGCGTGGA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.244C>T	9.37:g.107361451G>A		Somatic	757	0	0		WXS	Illumina HiSeq	Phase_I	713	296	0.415147	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	CCDS35091.1																																																																																			.	.	weak		0.512	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361451	G	A	107361451	2	1	22	1	0	0	0	0	0	0	0	1	10937	962	34	2		2	OR13C5	9	107361451	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	107361451	33851980	5237	10345	214	4	16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361452	107361452	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaaaggaagctcactagCgtggagggaatagaggtggt					rs376107801|rs377523807|rs199665292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361452C>G	ENST00000374779.2	-	1	336	c.243G>C	c.(241-243)acG>acC	p.T81T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCTCACTAGCGTGGAGGGAA	0.512													G|||	1377	0.27496	0.3116	0.2133	5008	,	,		19807	0.4504		0.1163	False		,,,				2504	0.2515				p.T81T		Atlas-SNP	.											OR13C5,NS,carcinoma,-2,1	OR13C5	60	1	0			c.G243C						PASS	.						15	28	23					9																	107361452		2059	4256	6315	SO:0001819	synonymous_variant	138799	exon1			CACTAGCGTGGAG		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243G>C	9.37:g.107361452C>G		Somatic	753	1	0.00132802		WXS	Illumina HiSeq	Phase_I	718	299	0.416435	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	CCDS35091.1																																																																																			.	.	weak		0.512	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107361452	C	G	107361452	2	3	22	1	0	0	0	0	0	0	0	1	10937	755	27	4		4	OR13C5	9	107361452	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	107361452	33851979	5238	10346	214	4	16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361642	107361642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcaagtcttgggtgaccaGaaagtcccttcagaaaaaat	8	9	3	3	rs1851722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107361642G>A	ENST00000374779.2	-	1	146	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	18			S -> F (in dbSNP:rs1851722).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGGGTGACCAGAAAGTCCCTT	0.388													G|||	1205	0.240615	0.0998	0.366	5008	,	,		20151	0.38		0.2445	False		,,,				2504	0.1943				p.S18F		Atlas-SNP	.											.	OR13C5	60	.	0			c.C53T						PASS	.						49	52	51					9																	107361642		2201	4294	6495	SO:0001583	missense	138799	exon1			TGACCAGAAAGTC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.53C>T	9.37:g.107361642G>A	ENSP00000363911:p.Ser18Phe	Somatic	478	1	0.00209205		WXS	Illumina HiSeq	Phase_I	489	234	0.478528	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	599	0.2742673992673993	53	0.10772357723577236	127	0.35082872928176795	218	0.3811188811188811	201	0.26517150395778366	G	15.10	2.732376	0.48939	.	.	ENSG00000255800	ENST00000374779	T	0.00441	7.41	3.84	2.91	0.33838	.	0.000000	0.36932	U	0.002336	T	0.00012	0.0000	M	0.76170	2.325	0.80722	P	0.0	D	0.60575	0.988	P	0.54924	0.764	T	0.49143	-0.8970	9	0.87932	D	0	.	10.221	0.43196	0.0:0.0:0.8:0.2	rs1851722;rs35304986;rs57432004;rs1851722	18	Q8NGS8	O13C5_HUMAN	F	18	ENSP00000363911:S18F	ENSP00000363911:S18F	S	-	2	0	OR13C5	106401463	0.025000	0.19082	0.002000	0.10522	0.240000	0.25518	2.042000	0.41222	0.777000	0.33496	0.531000	0.56144	TCT	G|1.000;|0.000	.	weak		0.388	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361642	G	A	107361642	3	1	22	1	0	0	0	0	1	0	0	0	10937	942	33	2	905	2	OR13C5	9	107361642	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190	107361642	33851789	5239	10347			16	45		9	6	721	N	T_G_C_A	7.450499e-06
OR13D1	286365	hgsc.bcm.edu	37	chr9	107457275	107457275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctgacctccctattgcaAacagttctgacaatgatgtt	7	10	2	3	rs10820709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107457275A>C	ENST00000318763.5	+	1	616	c.573A>C	c.(571-573)caA>caC	p.Q191H		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	191			Q -> H (in dbSNP:rs10820709). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CCCTATTGCAAACAGTTCTGA	0.428													A|||	2439	0.487021	0.6778	0.4827	5008	,	,		22591	0.505		0.3151	False		,,,				2504	0.3906				p.Q191H		Atlas-SNP	.											.	OR13D1	42	.	0			c.A573C						PASS	.	A	HIS/GLN	2788,1618	664.0+/-401.3	887,1014,302	164	147	153		573	-0.5	0.2	9	dbSNP_120	153	2602,5998	420.9+/-353.5	407,1788,2105	no	missense	OR13D1	NM_001004484.1	24	1294,2802,2407	CC,CA,AA		30.2558,36.7227,41.4424	probably-damaging	191/347	107457275	5390,7616	2203	4300	6503	SO:0001583	missense	286365	exon1			ATTGCAAACAGTT		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.573A>C	9.37:g.107457275A>C	ENSP00000317357:p.Gln191His	Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	344	109	0.31686	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	1006	0.4606227106227106	313	0.6361788617886179	155	0.4281767955801105	289	0.5052447552447552	249	0.32849604221635886	A	2.797	-0.249970	0.05867	0.632773	0.302558	ENSG00000179055	ENST00000318763	T	0.00019	9.06	3.87	-0.483	0.12075	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.21147	0.052	B	0.27887	0.084	T	0.40346	-0.9568	9	0.35671	T	0.21	.	4.6636	0.12655	0.6395:0.162:0.1985:0.0	rs10820709;rs10820709	191	Q8NGV5	O13D1_HUMAN	H	191	ENSP00000317357:Q191H	ENSP00000317357:Q191H	Q	+	3	2	OR13D1	106497096	0.000000	0.05858	0.150000	0.22450	0.078000	0.17371	-0.772000	0.04694	0.074000	0.16767	0.418000	0.28097	CAA	A|0.560;C|0.440	0.440	strong		0.428	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			C	107457275	A	C	107457275	3	2	22	1	0	0	0	0	1	0	0	0	10940	11	1	5	575	5	OR13D1	9	107457275	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	95633	107457275	33756156	5240	10348										
OR13D1	286365	hgsc.bcm.edu	37	chr9	107457532	107457532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctacctgttcagcgcactCgattgtggtcatcttattct	7	12	5	0	rs10761073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107457532C>T	ENST00000318763.5	+	1	873	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCAGCGCACTCGATTGTGGTC	0.388													T|||	3835	0.765775	0.8593	0.6643	5008	,	,		21481	0.9901		0.506	False		,,,				2504	0.7474				p.S277L		Atlas-SNP	.											OR13D1,colon,carcinoma,+1,1	OR13D1	42	1	0			c.C830T						PASS	.	T	LEU/SER	3599,807	318.0+/-295.4	1480,639,84	175	169	171		830	1.4	0	9	dbSNP_120	171	4429,4171	568.1+/-388.9	1169,2091,1040	yes	missense	OR13D1	NM_001004484.1	145	2649,2730,1124	TT,TC,CC		48.5,18.3159,38.2746	benign	277/347	107457532	8028,4978	2203	4300	6503	SO:0001583	missense	286365	exon1			CGCACTCGATTGT		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.830C>T	9.37:g.107457532C>T	ENSP00000317357:p.Ser277Leu	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	210	77	0.366667	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	1606	0.7353479853479854	409	0.8313008130081301	238	0.6574585635359116	567	0.9912587412587412	392	0.5171503957783641	T	0.001	-2.996412	0.00044	0.816841	0.515	ENSG00000179055	ENST00000318763	T	0.26957	1.7	3.87	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003311	T	0.00012	0.0000	N	0.00000	-4.525	0.80722	P	0.0	B	0.10296	0.003	B	0.01281	0.0	T	0.46247	-0.9205	9	0.02654	T	1	.	5.1409	0.14959	0.1374:0.1771:0.0:0.6855	rs10761073;rs61440455;rs10761073	277	Q8NGV5	O13D1_HUMAN	L	277	ENSP00000317357:S277L	ENSP00000317357:S277L	S	+	2	0	OR13D1	106497353	0.496000	0.26059	0.001000	0.08648	0.001000	0.01503	4.054000	0.57434	-0.522000	0.06417	-2.611000	0.00159	TCG	C|0.321;T|0.679	0.679	strong		0.388	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			T	107457532	C	T	107457532	3	4	22	1	0	0	0	0	1	0	0	0	10940	893	31	1	832	1	OR13D1	9	107457532	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	257	107457532	33755899	5241	10349										
ABCA1	19	hgsc.bcm.edu	37	chr9	107547872	107547872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggacaggcttcaggtcCgggttggaccctgctattcg	13	12	1	0	rs61741359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107547872C>T	ENST00000374736.3	-	49	6844	c.6450G>A	c.(6448-6450)ccG>ccA	p.P2150P		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2150			P -> L (in HDLD2). {ECO:0000269|PubMed:11086027}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCTTCAGGTCCGGGTTGGACC	0.418													C|||	57	0.0113818	0.0386	0.0072	5008	,	,		17972	0.0		0.001	False		,,,				2504	0.0				p.P2150P		Atlas-SNP	.											.	ABCA1	244	.	0			c.G6450A						PASS	.	C		172,4234	112.5+/-150.6	0,172,2031	85	87	87		6450	2.2	1	9	dbSNP_129	87	0,8600		0,0,4300	yes	coding-synonymous	ABCA1	NM_005502.3		0,172,6331	TT,TC,CC		0.0,3.9038,1.3225		2150/2262	107547872	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	19	exon49			CAGGTCCGGGTTG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6450G>A	9.37:g.107547872C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	71	54	0.760563	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			C|0.985;T|0.015	0.015	strong		0.418	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107547872	C	T	107547872	2	4	22	1	0	0	0	0	0	0	0	1	28	639	23	1		1	ABCA1	9	107547872	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90340	107547872	33665559	5242	10350										
ABCA1	19	hgsc.bcm.edu	37	chr9	107578478	107578478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatgcccaggtctgagagCcggtcatcaatctcatgaaa	10	10	4	2	rs2230807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107578478C>T	ENST00000374736.3	-	25	4078	c.3684G>A	c.(3682-3684)cgG>cgA	p.R1228R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1228					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGTCTGAGAGCCGGTCATCAA	0.488													C|||	316	0.063099	0.2269	0.0231	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0				p.R1228R		Atlas-SNP	.											.	ABCA1	244	.	0			c.G3684A						PASS	.	C		778,3628	314.7+/-293.7	70,638,1495	159	165	163		3684	-2.1	1	9	dbSNP_98	163	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ABCA1	NM_005502.3		70,647,5786	TT,TC,CC		0.1047,17.6577,6.0511		1228/2262	107578478	787,12219	2203	4300	6503	SO:0001819	synonymous_variant	19	exon25			TGAGAGCCGGTCA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3684G>A	9.37:g.107578478C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	158	87	0.550633	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			T|0.049;G|0.134	0.049	strong		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107578478	C	T	107578478	2	4	22	1	0	0	0	0	0	0	0	1	28	726	26	2		2	ABCA1	9	107578478	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30606	107578478	33634953	5243	10351										
ABCA1	19	hgsc.bcm.edu	37	chr9	107586753	107586753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacagcacttactttctgaTattctcttctggttggaacc	6	11	3	1	rs2066714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107586753T>C	ENST00000374736.3	-	18	3043	c.2649A>G	c.(2647-2649)atA>atG	p.I883M	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	883			I -> M (associated with higher plasma cholesterol; dbSNP:rs2066714). {ECO:0000269|PubMed:10431237, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11238261, ECO:0000269|PubMed:11257261, ECO:0000269|PubMed:12709788, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:15520867}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TACTTTCTGATATTCTCTTCT	0.493													C|||	1787	0.356829	0.5083	0.2233	5008	,	,		20805	0.6865		0.1352	False		,,,				2504	0.135				p.I883M		Atlas-SNP	.											ABCA1,NS,adenoma,0,1	ABCA1	244	1	0			c.A2649G	GRCh37	CM990005	ABCA1	M	rs2066714	scavenged	.	C	MET/ILE	2045,2361	609.1+/-391.3	497,1051,655	118	103	108		2649	0.2	0.1	9	dbSNP_94	108	1154,7446	766.1+/-407.6	72,1010,3218	yes	missense	ABCA1	NM_005502.3	10	569,2061,3873	CC,CT,TT		13.4186,46.414,24.5963	benign	883/2262	107586753	3199,9807	2203	4300	6503	SO:0001583	missense	19	exon18			TTCTGATATTCTC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2649A>G	9.37:g.107586753T>C	ENSP00000363868:p.Ile883Met	Somatic	211	2	0.00947867		WXS	Illumina HiSeq	Phase_I	229	156	0.681223	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	799	0.3658424908424908	244	0.4959349593495935	77	0.212707182320442	387	0.6765734265734266	91	0.12005277044854881	C	2.696	-0.272003	0.05716	0.46414	0.134186	ENSG00000165029	ENST00000374736	D	0.88586	-2.4	5.71	0.162	0.14981	.	2.186690	0.01451	N	0.015505	T	0.00012	0.0000	N	0.22421	0.69	0.36654	P	0.12242900000000001	B	0.09022	0.002	B	0.06405	0.002	T	0.46484	-0.9188	9	0.45353	T	0.12	.	3.2794	0.06909	0.133:0.2132:0.0845:0.5693	rs2066714;rs2853570;rs4149313;rs58387182;rs4149313	883	O95477	ABCA1_HUMAN	M	883	ENSP00000363868:I883M	ENSP00000363868:I883M	I	-	3	3	ABCA1	106626574	0.000000	0.05858	0.065000	0.19835	0.016000	0.09150	-1.119000	0.03276	-0.081000	0.12662	-1.212000	0.01626	ATA	T|0.686;C|0.314	0.314	strong		0.493	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107586753	T	C	107586753	3	2	22	1	0	0	0	0	1	0	0	0	28	1396	49	2	4268	2	ABCA1	9	107586753	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8275	107586753	33626678	5244	10352										
ABCA1	19	hgsc.bcm.edu	37	chr9	107591272	107591272	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaaccagctaaaccagagGatgctgttgtccaggcccat	10	11	0	2	rs2853579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:107591272G>T	ENST00000374736.3	-	15	2434	c.2040C>A	c.(2038-2040)atC>atA	p.I680I	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	680					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TAAACCAGAGGATGCTGTTGT	0.532													G|||	1698	0.339058	0.4607	0.2075	5008	,	,		21588	0.6855		0.1213	False		,,,				2504	0.135				p.I680I		Atlas-SNP	.											ABCA1,NS,adenoma,0,1	ABCA1	244	1	0			c.C2040A						PASS	.	G		1831,2575	535.3+/-374.2	404,1023,776	144	112	123		2040	6	1	9	dbSNP_100	123	1084,7516	226.5+/-262.2	66,952,3282	no	coding-synonymous	ABCA1	NM_005502.3		470,1975,4058	TT,TG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	12.6047,41.557,22.4127		680/2262	107591272	2915,10091	2203	4300	6503	SO:0001819	synonymous_variant	19	exon15			CCAGAGGATGCTG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2040C>A	9.37:g.107591272G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	120	77	0.641667	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			G|0.593;T|0.233	0.233	strong		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107591272	G	T	107591272	2	4	22	1	0	0	0	0	0	0	0	1	28	1164	41	4		4	ABCA1	9	107591272	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4519	107591272	33622159	5245	10353										
FKTN	2218	hgsc.bcm.edu	37	chr9	108366499	108366499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctttggttctaggaaGgctggtttcggatagctgag	14	6	2	1	rs34006675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:108366499G>A	ENST00000223528.2	+	5	497	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	FKTN_ENST00000357998.5_Missense_Mutation_p.G125S|FKTN_ENST00000602661.1_Missense_Mutation_p.G125S|FKTN_ENST00000448551.2_Missense_Mutation_p.G125S|FKTN_ENST00000540160.1_Missense_Mutation_p.G125S	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	125			G -> S (in a patient diagnosed with Walker-Warburg syndrome; dbSNP:rs34006675). {ECO:0000269|PubMed:18177472}.		muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GTTCTAGGAAGGCTGGTTTCG	0.373													G|||	186	0.0371406	0.1263	0.013	5008	,	,		19669	0.0		0.008	False		,,,				2504	0.002				p.G125S		Atlas-SNP	.											.	FKTN	47	.	0			c.G373A	GRCh37	CM080364	FKTN	M	rs34006675	PASS	.	G	SER/GLY,SER/GLY,SER/GLY	382,4024	194.0+/-219.0	22,338,1843	84	86	86	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	373,373,373	1.7	1	9	dbSNP_126	86	98,8502	54.0+/-114.7	1,96,4203	yes	missense,missense,missense	FKTN	NM_001079802.1,NM_001198963.1,NM_006731.2	56,56,56	23,434,6046	AA,AG,GG		1.1395,8.67,3.6906	benign,benign,benign	125/462,125/431,125/462	108366499	480,12526	2203	4300	6503	SO:0001583	missense	2218	exon5			TAGGAAGGCTGGT		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.373G>A	9.37:g.108366499G>A	ENSP00000223528:p.Gly125Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	86	40	0.465116	NM_006731	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	77	0.035256410256410256	65	0.13211382113821138	7	0.019337016574585635	0	0.0	5	0.006596306068601583	G	17.19	3.325170	0.60634	0.0867	0.011395	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	D;D;T;D;T	0.89939	-2.26;-2.59;-1.42;-2.59;-1.45	5.07	1.71	0.24356	.	0.628558	0.17157	N	0.184851	T	0.05181	0.0138	L	0.41236	1.265	0.32344	N	0.559308	P;B;B	0.51351	0.944;0.085;0.047	P;B;B	0.48270	0.572;0.023;0.023	T	0.52830	-0.8523	10	0.19147	T	0.46	-9.476	9.4051	0.38457	0.334:0.0:0.666:0.0	rs34006675	125;125;125	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	S	125;125;125;125;102	ENSP00000223528:G125S;ENSP00000399140:G125S;ENSP00000439423:G125S;ENSP00000350687:G125S;ENSP00000363837:G102S	ENSP00000223528:G125S	G	+	1	0	FKTN	107406320	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.142000	0.42177	0.526000	0.28541	0.563000	0.77884	GGC	G|0.968;A|0.032	0.032	strong		0.373	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		A	108366499	G	A	108366499	3	1	22	1	0	0	0	0	1	0	0	0	5919	1000	35	2	387	2	FKTN	9	108366499	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	775227	108366499	32846932	5246	10354										
FKTN	2218	hgsc.bcm.edu	37	chr9	108366734	108366734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaaatttgttcccttccGaaagttacagtttggtcgtt	9	8	0	0	rs34787999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:108366734G>A	ENST00000223528.2	+	5	732	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	FKTN_ENST00000448551.2_Missense_Mutation_p.R203Q|FKTN_ENST00000357998.5_Missense_Mutation_p.R203Q|FKTN_ENST00000602661.1_Missense_Mutation_p.R203Q|FKTN_ENST00000540160.1_Missense_Mutation_p.R203Q	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	203			R -> Q (in dbSNP:rs34787999). {ECO:0000269|PubMed:9690476}.		muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GTTCCCTTCCGAAAGTTACAG	0.433													G|||	792	0.158147	0.1339	0.2205	5008	,	,		16548	0.0913		0.2724	False		,,,				2504	0.0982				p.R203Q		Atlas-SNP	.											.	FKTN	47	.	0			c.G608A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG	698,3708	291.5+/-281.6	57,584,1562	78	76	77		608,608,608	5.4	1	9	dbSNP_126	77	2743,5857	435.7+/-358.1	394,1955,1951	yes	missense,missense,missense	FKTN	NM_001079802.1,NM_001198963.1,NM_006731.2	43,43,43	451,2539,3513	AA,AG,GG		31.8953,15.842,26.457	benign,benign,benign	203/462,203/431,203/462	108366734	3441,9565	2203	4300	6503	SO:0001583	missense	2218	exon5			CCTTCCGAAAGTT		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.608G>A	9.37:g.108366734G>A	ENSP00000223528:p.Arg203Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_006731	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	426	0.19505494505494506	63	0.12804878048780488	87	0.24033149171270718	57	0.09965034965034965	219	0.28891820580474936	G	17.31	3.356859	0.61293	0.15842	0.318953	ENSG00000106692	ENST00000223528;ENST00000540160;ENST00000357998;ENST00000374705	D;D;D;D	0.90844	-2.41;-1.61;-2.74;-1.63	5.36	5.36	0.76844	.	0.279452	0.35407	N	0.003239	T	0.00012	0.0000	M	0.67953	2.075	0.28330	P	0.9218189999999999	P;B;B	0.51653	0.947;0.332;0.074	B;B;B	0.35182	0.197;0.013;0.013	T	0.00953	-1.1502	9	0.40728	T	0.16	-14.7124	11.5448	0.50688	0.081:0.0:0.919:0.0	rs34787999;rs52801818;rs57126925;rs62575143	203;203;203	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	Q	203;203;203;180	ENSP00000223528:R203Q;ENSP00000439423:R203Q;ENSP00000350687:R203Q;ENSP00000363837:R180Q	ENSP00000223528:R203Q	R	+	2	0	FKTN	107406555	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.399000	0.59703	2.496000	0.84212	0.563000	0.77884	CGA	G|0.755;A|0.245	0.245	strong		0.433	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		A	108366734	G	A	108366734	3	1	22	1	0	0	0	0	1	0	0	0	5919	1058	37	1	622	1	FKTN	9	108366734	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	235	108366734	32846697	5247	10355										
FKTN	2218	hgsc.bcm.edu	37	chr9	108380355	108380355	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggatgcaggacttccgctCaaacacaaatttgggaaggt	11	9	1	0	rs17309806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:108380355C>A	ENST00000223528.2	+	8	1150	c.1026C>A	c.(1024-1026)ctC>ctA	p.L342L	FKTN_ENST00000448551.2_Silent_p.L342L|FKTN_ENST00000357998.5_Silent_p.L342L|FKTN_ENST00000602661.1_Silent_p.L342L|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	342					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GACTTCCGCTCAAACACAAAT	0.328													C|||	893	0.178315	0.2088	0.2248	5008	,	,		16658	0.0903		0.2724	False		,,,				2504	0.0982				p.L342L		Atlas-SNP	.											.	FKTN	47	.	0			c.C1026A						PASS	.	C	,,	1051,3355	357.6+/-314.0	133,785,1285	41	41	41		1026,1026,1026	3	1	9	dbSNP_123	41	2731,5865	418.5+/-352.8	394,1943,1961	no	coding-synonymous,coding-synonymous,coding-synonymous	FKTN	NM_001079802.1,NM_001198963.1,NM_006731.2	,,	527,2728,3246	AA,AC,CC		31.7706,23.8538,29.0878	,,	342/462,342/431,342/462	108380355	3782,9220	2203	4298	6501	SO:0001819	synonymous_variant	2218	exon8			TCCGCTCAAACAC		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1026C>A	9.37:g.108380355C>A		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	235	159	0.676596	NM_006731	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	CCDS6766.1	460	0.21062271062271062	97	0.19715447154471544	87	0.24033149171270718	57	0.09965034965034965	219	0.28891820580474936	C	7.979	0.750751	0.15778	0.238538	0.317706	ENSG00000106692	ENST00000457847	.	.	.	6.02	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999988	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8012	1.8877	0.03241	0.203:0.4984:0.1286:0.17	rs17309806;rs17309806	.	.	.	X	39	.	.	S	+	2	0	FKTN	107420176	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.601000	0.24119	1.563000	0.49615	-0.142000	0.14014	TCA	C|0.750;A|0.250	0.250	strong		0.328	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		A	108380355	C	A	108380355	2	1	22	1	0	0	0	0	0	0	0	1	5919	813	29	4		4	FKTN	9	108380355	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13621	108380355	32833076	5248	10356										
ZNF462	58499	hgsc.bcm.edu	37	chr9	109687288	109687288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacagagagatcccgttaTggaatgactgacatgaccaa	10	8	0	6	rs1000152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:109687288T>C	ENST00000277225.5	+	3	1384	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.Y365Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	365					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GATCCCGTTATGGAATGACTG	0.418													T|||	988	0.197284	0.4297	0.17	5008	,	,		23464	0.129		0.0895	False		,,,				2504	0.0838				p.Y365Y		Atlas-SNP	.											ZNF462,colon,carcinoma,0,1	ZNF462	322	1	0			c.T1095C						PASS	.	T		1634,2772	503.5+/-365.6	291,1052,860	73	69	70		1095	-6.4	0.9	9	dbSNP_86	70	806,7794	188.7+/-235.6	50,706,3544	no	coding-synonymous	ZNF462	NM_021224.4		341,1758,4404	CC,CT,TT		9.3721,37.0858,18.7606		365/2507	109687288	2440,10566	2203	4300	6503	SO:0001819	synonymous_variant	58499	exon3			CCGTTATGGAATG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1095T>C	9.37:g.109687288T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	81	18	0.222222	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																			T|0.801;C|0.199	0.199	strong		0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109687288	T	C	109687288	2	2	22	1	0	0	0	0	0	0	0	1	17923	1471	51	2		2	ZNF462	9	109687288	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1306933	109687288	31526143	5249	10357										
KLF4	9314	hgsc.bcm.edu	37	chr9	110249415	110249415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttttccggggccacgaTcgtcttcccctctttggctt	9	15	2	0	rs45596731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:110249415T>C	ENST00000374672.4	-	4	1631	c.1158A>G	c.(1156-1158)cgA>cgG	p.R386R		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	420	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGGGCCACGATCGTCTTCCCC	0.597													T|||	18	0.00359425	0.0129	0.0014	5008	,	,		17148	0.0		0.0	False		,,,				2504	0.0				p.R386R		Atlas-SNP	.											.	KLF4	106	.	0			c.A1158G						PASS	.	T		51,4355	52.3+/-87.9	0,51,2152	192	175	180		1158	4.4	1	9	dbSNP_127	180	0,8600		0,0,4300	no	coding-synonymous	KLF4	NM_004235.4		0,51,6452	CC,CT,TT		0.0,1.1575,0.3921		386/480	110249415	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	9314	exon4			CCACGATCGTCTT	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1158A>G	9.37:g.110249415T>C		Somatic	270	1	0.0037037		WXS	Illumina HiSeq	Phase_I	269	171	0.635688	NM_004235	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Silent	SNP	ENST00000374672.4	37	CCDS6770.2																																																																																			T|0.996;C|0.004	0.004	strong		0.597	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		C	110249415	T	C	110249415	2	2	22	1	0	0	0	0	0	0	0	1	8348	1422	50	2		2	KLF4	9	110249415	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	562127	110249415	30964016	5250	10358										
IKBKAP	8518	hgsc.bcm.edu	37	chr9	111641825	111641825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctgactcttgcccgtggGgtacctcatcatctagaaaa	10	11	5	2	rs1538660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:111641825G>A	ENST00000374647.5	-	33	3780	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Missense_Mutation_p.P809L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1158			P -> L (in dbSNP:rs1538660). {ECO:0000269|PubMed:17974005}.		chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTGCCCGTGGGGTACCTCATC	0.473													G|||	1227	0.245008	0.3207	0.1599	5008	,	,		17712	0.2937		0.172	False		,,,				2504	0.228				p.P1158L		Atlas-SNP	.											.	IKBKAP	122	.	0			c.C3473T						PASS	.	G	LEU/PRO	1333,3073	446.5+/-348.0	194,945,1064	98	79	86		3473	3	0	9	dbSNP_88	86	1423,7177	272.7+/-290.2	129,1165,3006	yes	missense	IKBKAP	NM_003640.3	98	323,2110,4070	AA,AG,GG		16.5465,30.2542,21.1902	benign	1158/1333	111641825	2756,10250	2203	4300	6503	SO:0001583	missense	8518	exon33			CCGTGGGGTACCT	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3473C>T	9.37:g.111641825G>A	ENSP00000363779:p.Pro1158Leu	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	202	144	0.712871	NM_003640	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	488	0.22344322344322345	141	0.2865853658536585	49	0.13535911602209943	165	0.28846153846153844	133	0.17546174142480211	G	8.589	0.884182	0.17467	0.302542	0.165465	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.27557	2.05;1.66	5.96	2.96	0.34315	.	0.316290	0.33813	N	0.004524	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.41413	-0.9510	9	0.15952	T	0.53	1.6491	6.3668	0.21459	0.1673:0.0:0.6873:0.1454	rs1538660;rs2230797;rs52816671;rs56685838;rs1538660	1158	O95163	ELP1_HUMAN	L	1158;809	ENSP00000363779:P1158L;ENSP00000439367:P809L	ENSP00000363779:P1158L	P	-	2	0	IKBKAP	110681646	0.982000	0.34865	0.027000	0.17364	0.657000	0.38888	3.011000	0.49567	0.334000	0.23590	-0.345000	0.07892	CCC	G|0.773;A|0.227	0.227	strong		0.473	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			A	111641825	G	A	111641825	3	1	22	1	0	0	0	0	1	0	0	0	7610	1232	43	2	545	2	IKBKAP	9	111641825	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1392410	111641825	29571606	5251	10359										
IKBKAP	8518	hgsc.bcm.edu	37	chr9	111651620	111651620	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgagtttacctgggcacActcttccaaaaccatggccg	8	12	1	1	rs3204145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:111651620A>T	ENST00000374647.5	-	29	3521	c.3214T>A	c.(3214-3216)Tgt>Agt	p.C1072S	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Missense_Mutation_p.C723S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1072			C -> S (in dbSNP:rs3204145). {ECO:0000269|PubMed:11179008, ECO:0000269|PubMed:17974005}.		chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACCTGGGCACACTCTTCCAAA	0.433													A|||	1231	0.245807	0.3245	0.1585	5008	,	,		18947	0.2937		0.172	False		,,,				2504	0.228				p.C1072S		Atlas-SNP	.											.	IKBKAP	122	.	0			c.T3214A						PASS	.	A	SER/CYS	1341,3065	448.8+/-348.8	196,949,1058	169	161	164		3214	5.5	1	9	dbSNP_105	164	1423,7177	273.7+/-290.8	129,1165,3006	yes	missense	IKBKAP	NM_003640.3	112	325,2114,4064	TT,TA,AA		16.5465,30.4358,21.2517	benign	1072/1333	111651620	2764,10242	2203	4300	6503	SO:0001583	missense	8518	exon29			GGGCACACTCTTC	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3214T>A	9.37:g.111651620A>T	ENSP00000363779:p.Cys1072Ser	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	99	65	0.656566	NM_003640	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	489	0.2239010989010989	142	0.2886178861788618	49	0.13535911602209943	165	0.28846153846153844	133	0.17546174142480211	A	16.58	3.162160	0.57368	0.304358	0.165465	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26223	1.75;1.75	5.51	5.51	0.81932	.	0.176099	0.48767	D	0.000171	T	0.00012	0.0000	N	0.08118	0	0.47065	P	6.930000000000547E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	9	0.66056	D	0.02	-4.7817	13.5727	0.61856	1.0:0.0:0.0:0.0	rs3204145;rs3824462;rs56566330;rs60095549;rs3204145	1072	O95163	ELP1_HUMAN	S	1072;723	ENSP00000363779:C1072S;ENSP00000439367:C723S	ENSP00000363779:C1072S	C	-	1	0	IKBKAP	110691441	1.000000	0.71417	0.995000	0.50966	0.842000	0.47809	6.550000	0.73905	2.080000	0.62538	0.533000	0.62120	TGT	A|0.773;T|0.227	0.227	strong		0.433	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			T	111651620	A	T	111651620	3	4	22	1	0	0	0	0	1	0	0	0	7610	159	6	5	820	5	IKBKAP	9	111651620	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9795	111651620	29561811	5252	10360										
EPB41L4B	54566	hgsc.bcm.edu	37	chr9	112017883	112017883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaagaatgcgtggtgctcAactgcacacttccaaaggtg	12	10	1	1	rs73529389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:112017883A>G	ENST00000374566.3	-	11	1594	c.1077T>C	c.(1075-1077)gtT>gtC	p.V359V	EPB41L4B_ENST00000374557.4_Silent_p.V359V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	359	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGTGCTCAACTGCACACT	0.532													G|||	30	0.00599042	0.0219	0.0014	5008	,	,		20496	0.0		0.0	False		,,,				2504	0.0				p.V359V		Atlas-SNP	.											.	EPB41L4B	111	.	0			c.T1077C						PASS	.	G	,	79,3947		0,79,1934	131	125	127		1077,1077	-11.6	0	9	dbSNP_130	127	0,8322		0,0,4161	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,79,6095	GG,GA,AA		0.0,1.9622,0.6398	,	359/519,359/901	112017883	79,12269	2013	4161	6174	SO:0001819	synonymous_variant	54566	exon11			GTGCTCAACTGCA	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1077T>C	9.37:g.112017883A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	116	34	0.293103	NM_019114	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																			A|0.997;G|0.003	0.003	strong		0.532	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112017883	A	G	112017883	2	3	22	1	0	0	0	0	0	0	0	1	5156	117	5	2		2	EPB41L4B	9	112017883	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	366263	112017883	29195548	5253	10361										
PTPN3	5774	hgsc.bcm.edu	37	chr9	112219474	112219474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttaactgcttcctgatggCtttgcttgcttccagccatc	7	12	0	1	rs3793524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:112219474C>G	ENST00000374541.2	-	4	372	c.268G>C	c.(268-270)Gcc>Ccc	p.A90P	PTPN3_ENST00000262539.3_Missense_Mutation_p.S7T	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		A -> P (in dbSNP:rs3793524). {ECO:0000269|PubMed:1648725}.		negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTCCTGATGGCTTTGCTTGCT	0.408													G|||	2045	0.408347	0.5318	0.2939	5008	,	,		23696	0.3442		0.3439	False		,,,				2504	0.455				p.A90P		Atlas-SNP	.											.	PTPN3	106	.	0			c.G268C						PASS	.	G	PRO/ALA,PRO/ALA	2124,2282	598.3+/-389.1	495,1134,574	185	160	169		268,268	5.6	1	9	dbSNP_107	169	2915,5685	670.0+/-402.7	485,1945,1870	yes	missense,missense	PTPN3	NM_001145368.1,NM_002829.3	27,27	980,3079,2444	GG,GC,CC		33.8953,48.207,38.7437	benign,benign	90/869,90/914	112219474	5039,7967	2203	4300	6503	SO:0001583	missense	5774	exon4			TGATGGCTTTGCT		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.268G>C	9.37:g.112219474C>G	ENSP00000363667:p.Ala90Pro	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	129	91	0.705426	NM_001145368	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	829|829	0.37957875457875456|0.37957875457875456	244|244	0.4959349593495935|0.4959349593495935	118|118	0.3259668508287293|0.3259668508287293	202|202	0.3531468531468531|0.3531468531468531	265|265	0.3496042216358839|0.3496042216358839	G|G	24.4|24.4	4.525557|4.525557	0.85600|0.85600	0.48207|0.48207	0.338953|0.338953	ENSG00000070159|ENSG00000070159	ENST00000394831;ENST00000374541|ENST00000262539	T|T	0.76709|0.67865	-1.04|-0.29	5.56|5.56	5.56|5.56	0.83823|0.83823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);|.	0.052669|.	0.85682|.	N|.	0.000000|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00073|0.00073	-2.26|-2.26	0.09310|0.09310	P|P	1.0|1.0	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.33189|0.33189	-0.9878|-0.9878	9|6	0.02654|0.16896	T|T	1|0.51	.|.	16.3119|16.3119	0.82874|0.82874	0.0:0.1326:0.8674:0.0|0.0:0.1326:0.8674:0.0	rs3793524;rs52793477;rs59962731;rs3793524|rs3793524;rs52793477;rs59962731;rs3793524	90;90;90|.	B7Z9V1;Q45VJ3;P26045|.	.;.;PTN3_HUMAN|.	P|T	90|7	ENSP00000363667:A90P|ENSP00000262539:S7T	ENSP00000363667:A90P|ENSP00000262539:S7T	A|S	-|-	1|2	0|0	PTPN3|PTPN3	111259295|111259295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.534000|6.534000	0.73833|0.73833	1.370000|1.370000	0.46153|0.46153	-0.371000|-0.371000	0.07208|0.07208	GCC|AGC	C|0.619;G|0.380	0.380	strong		0.408	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			G	112219474	C	G	112219474	3	3	22	1	0	0	0	0	1	0	0	0	12789	797	28	4	2565	4	PTPN3	9	112219474	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201591	112219474	28993957	5254	10362										
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		Atlas-SNP	.											.	AKAP2	98	.	0			c.C59T						PASS	.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_001004065	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083	0.083	strong		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	22	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	591564	112811038	28402393	5255	10363										
TXNDC8	255220	hgsc.bcm.edu	37	chr9	113091523	113091523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcttaccggagaattgtTcacatccacattagcaaaaa	6	9	2	1	rs7041938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113091523T>G	ENST00000374511.3	-	3	226	c.178A>C	c.(178-180)Aac>Cac	p.N60H	TXNDC8_ENST00000374510.4_Missense_Mutation_p.N60H|TXNDC8_ENST00000374507.4_Intron|TXNDC8_ENST00000423740.2_Intron			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	60	Thioredoxin.		N -> H (in dbSNP:rs7041938).		acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGAGAATTGTTCACATCCACA	0.289													T|||	491	0.0980431	0.0446	0.1643	5008	,	,		18731	0.0774		0.1173	False		,,,				2504	0.1247				p.N60H		Atlas-SNP	.											.	TXNDC8	30	.	0			c.A178C						PASS	.	T	HIS/ASN	284,4120	157.4+/-190.3	9,266,1927	103	103	103		178	0.1	0.2	9	dbSNP_116	103	1068,7524	221.7+/-259.0	70,928,3298	yes	missense	TXNDC8	NM_001003936.2	68	79,1194,5225	GG,GT,TT		12.4302,6.4487,10.4032	possibly-damaging	60/116	113091523	1352,11644	2202	4296	6498	SO:0001583	missense	255220	exon3			AATTGTTCACATC	BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 3"						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.178A>C	9.37:g.113091523T>G	ENSP00000363635:p.Asn60His	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	21	13	0.619048	NM_001003936	A1L4I2|A6NDK7|Q5T934	Missense_Mutation	SNP	ENST00000374511.3	37		214	0.09798534798534798	26	0.052845528455284556	48	0.13259668508287292	46	0.08041958041958042	94	0.12401055408970976	T	10.25	1.297687	0.23650	0.064487	0.124302	ENSG00000204193	ENST00000374511;ENST00000374510	T;T	0.22539	1.95;1.95	4.07	0.139	0.14798	.	0.502303	0.18424	N	0.141656	T	0.00178	0.0005	N	0.20986	0.625	0.80722	P	0.0	D	0.60575	0.988	P	0.52066	0.689	T	0.13980	-1.0489	9	0.87932	D	0	-0.0906	6.2333	0.20747	0.0:0.5362:0.0:0.4638	rs7041938;rs17806208;rs52792001;rs56845930;rs7041938	60	Q6A555-2	.	H	60	ENSP00000363635:N60H;ENSP00000363634:N60H	ENSP00000363634:N60H	N	-	1	0	TXNDC8	112131344	0.978000	0.34361	0.163000	0.22734	0.431000	0.31685	0.376000	0.20535	0.018000	0.15052	-0.468000	0.05107	AAC	T|0.904;G|0.096	0.096	strong		0.289	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001003936		G	113091523	T	G	113091523	3	3	22	1	0	0	0	0	1	0	0	0	16798	1783	62	5	185	5	TXNDC8	9	113091523	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	280485	113091523	28121908	5256	10364										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113149612	113149612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttccattttctgtgcagTgtgcctcagatggcccttca	10	11	3	1	rs114581956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113149612T>C	ENST00000401783.2	-	42	10349	c.10013A>G	c.(10012-10014)cAc>cGc	p.H3338R	SVEP1_ENST00000374469.1_Missense_Mutation_p.H3315R|SVEP1_ENST00000297826.5_Missense_Mutation_p.H1264R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3338	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCTGTGCAGTGTGCCTCAGA	0.468													T|||	47	0.00938498	0.0333	0.0029	5008	,	,		17065	0.0		0.001	False		,,,				2504	0.0				p.H3338R		Atlas-SNP	.											.	SVEP1	326	.	0			c.A10013G						PASS	.	T	ARG/HIS	94,3784		1,92,1846	140	140	140		10013	1.4	0	9	dbSNP_132	140	0,8258		0,0,4129	yes	missense	SVEP1	NM_153366.3	29	1,92,5975	CC,CT,TT		0.0,2.4239,0.7746	benign	3338/3572	113149612	94,12042	1939	4129	6068	SO:0001583	missense	79987	exon42			GTGCAGTGTGCCT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10013A>G	9.37:g.113149612T>C	ENSP00000384917:p.His3338Arg	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	241	80	0.33195	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	27	0.012362637362637362	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	3.480	-0.106077	0.06924	0.024239	0.0	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63580	-0.05;-0.05;-0.05	5.09	1.42	0.22433	Complement control module (2);Sushi/SCR/CCP (3);	0.889971	0.09909	N	0.740049	T	0.08133	0.0203	N	0.11892	0.195	0.09310	N	0.999999	B	0.18013	0.025	B	0.22152	0.038	T	0.09662	-1.0664	10	0.21014	T	0.42	.	3.9589	0.09403	0.1226:0.0714:0.1426:0.6634	.	3338	Q4LDE5	SVEP1_HUMAN	R	3338;3315;1264	ENSP00000384917:H3338R;ENSP00000363593:H3315R;ENSP00000297826:H1264R	ENSP00000297826:H1264R	H	-	2	0	SVEP1	112189433	0.005000	0.15991	0.021000	0.16686	0.386000	0.30323	1.484000	0.35508	0.055000	0.16094	0.529000	0.55759	CAC	T|0.987;C|0.013	0.013	strong		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113149612	T	C	113149612	3	2	22	1	0	0	0	0	1	0	0	0	15417	1696	59	2	730	2	SVEP1	9	113149612	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58089	113149612	28063819	5257	10365										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113169116	113169116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttggagcaccgtgcaagaTgtagccctcgtgacagtgga	13	9	0	2	rs16914996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113169116T>C	ENST00000401783.2	-	38	9100	c.8764A>G	c.(8764-8766)Atc>Gtc	p.I2922V	SVEP1_ENST00000374469.1_Missense_Mutation_p.I2899V|SVEP1_ENST00000297826.5_Missense_Mutation_p.I848V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2922	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.		I -> V (in dbSNP:rs16914996).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGTGCAAGATGTAGCCCTCG	0.527													T|||	207	0.0413339	0.149	0.0144	5008	,	,		21879	0.0		0.0	False		,,,				2504	0.0				p.I2922V		Atlas-SNP	.											.	SVEP1	326	.	0			c.A8764G						PASS	.	T	VAL/ILE	495,3643		27,441,1601	141	142	141		8764	-1.4	0	9	dbSNP_123	141	5,8423		0,5,4209	yes	missense	SVEP1	NM_153366.3	29	27,446,5810	CC,CT,TT		0.0593,11.9623,3.979	benign	2922/3572	113169116	500,12066	2069	4214	6283	SO:0001583	missense	79987	exon38			GCAAGATGTAGCC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8764A>G	9.37:g.113169116T>C	ENSP00000384917:p.Ile2922Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	74	52	0.702703	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	74	0.03388278388278388	71	0.1443089430894309	3	0.008287292817679558	0	0.0	0	0.0	T	0.008	-1.879969	0.00537	0.119623	5.93E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.61859	0.07;0.07;0.07	5.41	-1.41	0.08941	Complement control module (2);Sushi/SCR/CCP (3);	1.252220	0.05177	N	0.500598	T	0.00178	0.0005	N	0.01146	-0.985	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03651	-1.1016	9	0.17369	T	0.5	.	6.9527	0.24554	0.1169:0.3452:0.0:0.5379	rs16914996;rs52792614;rs16914996	2922	Q4LDE5	SVEP1_HUMAN	V	2922;2899;848	ENSP00000384917:I2922V;ENSP00000363593:I2899V;ENSP00000297826:I848V	ENSP00000297826:I848V	I	-	1	0	SVEP1	112208937	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	-1.006000	0.03671	-0.630000	0.05567	-0.326000	0.08463	ATC	T|0.943;C|0.057	0.057	strong		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113169116	T	C	113169116	3	2	22	1	0	0	0	0	1	0	0	0	15417	1464	51	2	1995	2	SVEP1	9	113169116	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19504	113169116	28044315	5258	10366										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113169631	113169631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagccttaagtcagagcctGctagaatgtgtccaggttta	10	8	1	2	rs71492888|rs7030192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113169631G>A	ENST00000401783.2	-	38	8585	c.8249C>T	c.(8248-8250)gCa>gTa	p.A2750V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2727V|SVEP1_ENST00000297826.5_Missense_Mutation_p.A676V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2750	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.		A -> V (in dbSNP:rs7030192). {ECO:0000269|PubMed:14702039}.		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCAGAGCCTGCTAGAATGTG	0.458													A|||	2138	0.426917	0.5726	0.3256	5008	,	,		22620	0.4365		0.328	False		,,,				2504	0.3937				p.A2750V		Atlas-SNP	.											.	SVEP1	326	.	0			c.C8249T						PASS	.	A	VAL/ALA	1929,2047		465,999,524	75	79	78		8249	4.7	0.1	9	dbSNP_116	78	2601,5709		391,1819,1945	yes	missense	SVEP1	NM_153366.3	64	856,2818,2469	AA,AG,GG		31.2996,48.5161,36.8712	benign	2750/3572	113169631	4530,7756	1988	4155	6143	SO:0001583	missense	79987	exon38			GAGCCTGCTAGAA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8249C>T	9.37:g.113169631G>A	ENSP00000384917:p.Ala2750Val	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	239	65	0.271967	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	742	0.33974358974358976	212	0.43089430894308944	108	0.2983425414364641	213	0.3723776223776224	209	0.2757255936675462	A	0	-2.739132	0.00088	0.485161	0.312996	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.62364	0.03;0.03;0.03	5.87	4.71	0.59529	Complement control module (2);Sushi/SCR/CCP (3);	0.717443	0.14280	N	0.329611	T	0.00012	0.0000	N	0.00205	-1.85	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.45934	-0.9227	9	0.25106	T	0.35	.	6.1143	0.20117	0.568:0.0:0.0664:0.3656	rs7030192;rs60576083;rs7030192	2750	Q4LDE5	SVEP1_HUMAN	V	2750;2727;676;422	ENSP00000384917:A2750V;ENSP00000363593:A2727V;ENSP00000297826:A676V	ENSP00000297826:A676V	A	-	2	0	SVEP1	112209452	0.005000	0.15991	0.139000	0.22197	0.028000	0.11728	1.821000	0.39041	0.451000	0.26802	-0.352000	0.07741	GCA	A|0.380;G|0.620	0.380	strong		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113169631	G	A	113169631	3	1	22	1	0	0	0	0	1	0	0	0	15417	1319	46	2	2510	2	SVEP1	9	113169631	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	515	113169631	28043800	5259	10367										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113169816	113169816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttccccagaagttcataTcctggattacaggtgtatga	11	8	1	2	rs116159392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113169816T>C	ENST00000401783.2	-	38	8400	c.8064A>G	c.(8062-8064)ggA>ggG	p.G2688G	SVEP1_ENST00000374469.1_Silent_p.G2665G|SVEP1_ENST00000297826.5_Silent_p.G614G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2688	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGTTCATATCCTGGATTAC	0.453													T|||	207	0.0413339	0.149	0.0144	5008	,	,		22581	0.0		0.0	False		,,,				2504	0.0				p.G2688G		Atlas-SNP	.											SVEP1,NS,carcinoma,0,1	SVEP1	326	1	0			c.A8064G						PASS	.	T		461,3353		27,407,1473	169	166	167		8064	-6.8	0.9	9	dbSNP_132	167	5,8265		0,5,4130	no	coding-synonymous	SVEP1	NM_153366.3		27,412,5603	CC,CT,TT		0.0605,12.087,3.8563		2688/3572	113169816	466,11618	1907	4135	6042	SO:0001819	synonymous_variant	79987	exon38			TTCATATCCTGGA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8064A>G	9.37:g.113169816T>C		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	118	75	0.635593	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			T|0.959;C|0.041	0.041	strong		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113169816	T	C	113169816	2	2	22	1	0	0	0	0	0	0	0	1	15417	1422	50	2		2	SVEP1	9	113169816	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	185	113169816	28043615	5260	10368										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113170323	113170323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggttgcaagagtaggtaacGgtctgtccatagtgtaggtc	14	7	1	1	rs111722103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113170323G>A	ENST00000401783.2	-	38	7893	c.7557C>T	c.(7555-7557)acC>acT	p.T2519T	SVEP1_ENST00000374469.1_Silent_p.T2496T|SVEP1_ENST00000297826.5_Silent_p.T445T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2519	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.			T -> I (in Ref. 6; CAD97901). {ECO:0000305}.	cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTAGGTAACGGTCTGTCCAT	0.488													G|||	154	0.0307508	0.1097	0.013	5008	,	,		21854	0.0		0.0	False		,,,				2504	0.0				p.T2519T		Atlas-SNP	.											SVEP1,NS,carcinoma,0,1	SVEP1	326	1	0			c.C7557T						PASS	.	G		334,3532		13,308,1612	49	48	49		7557	-1.3	0	9	dbSNP_132	49	5,8261		0,5,4128	no	coding-synonymous	SVEP1	NM_153366.3		13,313,5740	AA,AG,GG		0.0605,8.6394,2.7943		2519/3572	113170323	339,11793	1933	4133	6066	SO:0001819	synonymous_variant	79987	exon38			GGTAACGGTCTGT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7557C>T	9.37:g.113170323G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	90	66	0.733333	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			G|0.977;A|0.023	0.023	strong		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113170323	G	A	113170323	2	1	22	1	0	0	0	0	0	0	0	1	15417	1103	39	1		1	SVEP1	9	113170323	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	507	113170323	28043108	5261	10369										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113208250	113208250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatggagagatgggagcaTgccatctagcatgacatatc	12	8	1	2	rs7863519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113208250T>G	ENST00000401783.2	-	26	4666	c.4330A>C	c.(4330-4332)Atg>Ctg	p.M1444L	SVEP1_ENST00000374469.1_Missense_Mutation_p.M1421L|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1444L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1444	Pentaxin.		M -> L (in dbSNP:rs7863519).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.M1444L(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGGAGCATGCCATCTAGC	0.438													C|||	1701	0.339657	0.4569	0.2205	5008	,	,		20843	0.4504		0.1918	False		,,,				2504	0.3037				p.M1444L		Atlas-SNP	.											SVEP1,NS,carcinoma,0,2	SVEP1	326	2	2	Substitution - Missense(2)	prostate(2)	c.A4330C						PASS	.	C	LEU/MET	1478,2424		275,928,748	119	114	116		4330	3.6	0	9	dbSNP_116	116	1600,6712		164,1272,2720	yes	missense	SVEP1	NM_153366.3	15	439,2200,3468	GG,GT,TT		19.2493,37.878,25.2006	benign	1444/3572	113208250	3078,9136	1951	4156	6107	SO:0001583	missense	79987	exon26			GGAGCATGCCATC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4330A>C	9.37:g.113208250T>G	ENSP00000384917:p.Met1444Leu	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	153	46	0.300654	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	699	0.32005494505494503	228	0.4634146341463415	80	0.22099447513812154	241	0.42132867132867136	150	0.19788918205804748	C	0.025	-1.378392	0.01204	0.37878	0.192493	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.71817	3.35;3.35;-0.6	5.5	3.62	0.41486	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.301359	0.35466	N	0.003189	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.08055	0.0;0.003	T	0.41197	-0.9522	9	0.10377	T	0.69	.	8.2245	0.31560	0.0:0.6915:0.1135:0.195	rs7863519;rs52830057;rs60340468;rs7863519	1444;1444	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1444;1421;1444	ENSP00000384917:M1444L;ENSP00000363593:M1421L;ENSP00000304118:M1444L	ENSP00000304118:M1444L	M	-	1	0	SVEP1	112248071	0.004000	0.15560	0.023000	0.16930	0.138000	0.21146	0.095000	0.15127	0.361000	0.24292	-0.119000	0.15052	ATG	T|0.684;G|0.316	0.316	strong		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113208250	T	G	113208250	3	3	22	1	0	0	0	0	1	0	0	0	15417	1464	51	5	6477	5	SVEP1	9	113208250	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37927	113208250	28005181	5262	10370										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113233738	113233738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggctataagtatttctgaTgcaagctgaaaggaatacat	9	6	1	2	rs61732942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113233738T>C	ENST00000401783.2	-	16	3240	c.2904A>G	c.(2902-2904)gcA>gcG	p.A968A	SVEP1_ENST00000374469.1_Silent_p.A945A|SVEP1_ENST00000302728.8_Silent_p.A968A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	968					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTATTTCTGATGCAAGCTGAA	0.428													T|||	210	0.0419329	0.1513	0.0144	5008	,	,		16743	0.0		0.0	False		,,,				2504	0.0				p.A968A		Atlas-SNP	.											.	SVEP1	326	.	0			c.A2904G						PASS	.	T		458,3258		27,404,1427	122	112	115		2904	-11	0.2	9	dbSNP_129	115	5,8209		0,5,4102	no	coding-synonymous	SVEP1	NM_153366.3		27,409,5529	CC,CT,TT		0.0609,12.3251,3.881		968/3572	113233738	463,11467	1858	4107	5965	SO:0001819	synonymous_variant	79987	exon16			TTCTGATGCAAGC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2904A>G	9.37:g.113233738T>C		Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	267	181	0.677903	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			T|0.963;C|0.037	0.037	strong		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113233738	T	C	113233738	2	2	22	1	0	0	0	0	0	0	0	1	15417	1451	51	2		2	SVEP1	9	113233738	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25488	113233738	27979693	5263	10371										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113259152	113259152	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtaacattggcagaatcTtgctgttccagagtcttagc	10	9	2	2	rs10817033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113259152T>G	ENST00000401783.2	-	8	2079	c.1743A>C	c.(1741-1743)caA>caC	p.Q581H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Q558H|SVEP1_ENST00000374461.1_Missense_Mutation_p.Q558H|SVEP1_ENST00000302728.8_Missense_Mutation_p.Q581H|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	581	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.		Q -> H (in dbSNP:rs10817033).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCAGAATCTTGCTGTTCCA	0.398													T|||	464	0.0926518	0.1861	0.0836	5008	,	,		21855	0.001		0.1233	False		,,,				2504	0.0358				p.Q581H		Atlas-SNP	.											.	SVEP1	326	.	0			c.A1743C						PASS	.	T	HIS/GLN	687,3101		70,547,1277	98	91	93		1743	1	1	9	dbSNP_120	93	951,7239		63,825,3207	yes	missense	SVEP1	NM_153366.3	24	133,1372,4484	GG,GT,TT		11.6117,18.1362,13.6751	probably-damaging	581/3572	113259152	1638,10340	1894	4095	5989	SO:0001583	missense	79987	exon8			AGAATCTTGCTGT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1743A>C	9.37:g.113259152T>G	ENSP00000384917:p.Gln581His	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	187	117	0.625668	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	228	0.1043956043956044	99	0.20121951219512196	38	0.10497237569060773	0	0.0	91	0.12005277044854881	T	19.63	3.864224	0.71949	0.181362	0.116117	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.8	0.969	0.19686	Hyalin (2);	0.055337	0.64402	D	0.000001	T	0.00039	0.0001	M	0.72118	2.19	0.36870	P	0.11113300000000004	D;D;B	0.76494	0.998;0.999;0.028	D;D;B	0.83275	0.996;0.983;0.011	T	0.02269	-1.1185	9	0.51188	T	0.08	.	5.2267	0.15399	0.0:0.2637:0.1483:0.588	rs10817033;rs52813620;rs10817033	581;581;581	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	H	581;558;581;558	ENSP00000384917:Q581H;ENSP00000363593:Q558H;ENSP00000304118:Q581H;ENSP00000363585:Q558H	ENSP00000304118:Q581H	Q	-	3	2	SVEP1	112298973	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	-0.153000	0.10144	0.462000	0.27095	0.528000	0.53228	CAA	T|0.887;G|0.113	0.113	strong		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113259152	T	G	113259152	3	3	22	1	0	0	0	0	1	0	0	0	15417	1606	56	5	9136	5	SVEP1	9	113259152	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25414	113259152	27954279	5264	10372										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113265448	113265448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataacatttcccttgtagaAcagctgatgtggccatgttt	8	8	0	2	rs10120982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:113265448A>G	ENST00000401783.2	-	6	1689	c.1353T>C	c.(1351-1353)tgT>tgC	p.C451C	SVEP1_ENST00000374469.1_Silent_p.C428C|SVEP1_ENST00000374461.1_Silent_p.C428C|SVEP1_ENST00000302728.8_Silent_p.C451C|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	451	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTTGTAGAACAGCTGATGT	0.393													A|||	56	0.0111821	0.0378	0.0072	5008	,	,		20793	0.0		0.001	False		,,,				2504	0.0				p.C451C		Atlas-SNP	.											SVEP1,NS,carcinoma,-1,2	SVEP1	326	2	0			c.T1353C						PASS	.	A		130,3830		4,122,1854	152	149	150		1353	0.9	1	9	dbSNP_119	150	2,8308		0,2,4153	no	coding-synonymous	SVEP1	NM_153366.3		4,124,6007	GG,GA,AA		0.0241,3.2828,1.0758		451/3572	113265448	132,12138	1980	4155	6135	SO:0001819	synonymous_variant	79987	exon6			TGTAGAACAGCTG	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1353T>C	9.37:g.113265448A>G		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	202	59	0.292079	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			A|0.992;G|0.008	0.008	strong		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113265448	A	G	113265448	2	3	22	1	0	0	0	0	0	0	0	1	15417	41	2	2		2	SVEP1	9	113265448	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6296	113265448	27947983	5265	10373										
OR2K2	26248	hgsc.bcm.edu	37	chr9	114089883	114089883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacataggggtaagcactccGtaaagcaacgagatgatttt	10	7	0	2	rs61748722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114089883G>A	ENST00000374428.1	-	1	917	c.918C>T	c.(916-918)taC>taT	p.Y306Y	OR2K2_ENST00000302681.1_Silent_p.Y277Y			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAAGCACTCCGTAAAGCAACG	0.383													A|||	74	0.0147764	0.053	0.0058	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.0				p.Y277Y		Atlas-SNP	.											.	OR2K2	77	.	0			c.C831T						PASS	.	A		233,4173	805.1+/-415.8	5,223,1975	131	124	126		831	4.6	1	9	dbSNP_129	126	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	OR2K2	NM_205859.1		5,224,6274	AA,AG,GG		0.0116,5.2882,1.7992		277/317	114089883	234,12772	2203	4300	6503	SO:0001819	synonymous_variant	26248	exon1			CACTCCGTAAAGC	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.918C>T	9.37:g.114089883G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	171	123	0.719298	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	ENST00000374428.1	37																																																																																				G|0.982;A|0.018	0.018	strong		0.383	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		A	114089883	G	A	114089883	2	1	22	1	0	0	0	0	0	0	0	1	11005	1140	40	1		1	OR2K2	9	114089883	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	824435	114089883	27123548	5266	10374										
OR2K2	26248	hgsc.bcm.edu	37	chr9	114090277	114090277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccgtcacccaggagaccGtagccatccgtgcacagacg	10	16	1	2	rs73656223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114090277G>A	ENST00000374428.1	-	1	523	c.524C>T	c.(523-525)aCg>aTg	p.T175M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T146M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCAGGAGACCGTAGCCATCCG	0.547													G|||	74	0.0147764	0.053	0.0058	5008	,	,		21286	0.0		0.0	False		,,,				2504	0.0				p.T146M		Atlas-SNP	.											.	OR2K2	77	.	0			c.C437T						PASS	.	G	MET/THR	226,4180	116.7+/-154.6	5,216,1982	99	80	86		437	1.1	0	9	dbSNP_130	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2K2	NM_205859.1	81	5,217,6281	AA,AG,GG		0.0116,5.1294,1.7453	benign	146/317	114090277	227,12779	2203	4300	6503	SO:0001583	missense	26248	exon1			GAGACCGTAGCCA	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.524C>T	9.37:g.114090277G>A	ENSP00000363550:p.Thr175Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	78	44	0.564103	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	G	4.460	0.085171	0.08583	0.051294	1.16E-4	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.37752	1.18;1.18	4.92	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	1.107710	0.07088	U	0.838300	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.20371	-1.0277	10	0.72032	D	0.01	.	6.3971	0.21618	0.1168:0.2929:0.5903:0.0	.	175	Q8NGT1	OR2K2_HUMAN	M	146;175	ENSP00000305055:T146M;ENSP00000363550:T175M	ENSP00000305055:T146M	T	-	2	0	OR2K2	113130098	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	0.116000	0.15561	0.150000	0.19136	-0.423000	0.05987	ACG	G|0.982;A|0.018	0.018	strong		0.547	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		A	114090277	G	A	114090277	3	1	22	1	0	0	0	0	1	0	0	0	11005	1145	40	1	516	1	OR2K2	9	114090277	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394	114090277	27123154	5267	10375										
KIAA0368	23392	hgsc.bcm.edu	37	chr9	114146832	114146832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttcagagctagttctgcCgcttttcgtacagattccta	8	10	2	2	rs16916040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114146832C>T	ENST00000338205.5	-	33	3870	c.3651G>A	c.(3649-3651)gcG>gcA	p.A1217A	KIAA0368_ENST00000259335.4_Silent_p.A1395A|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1223					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.A1395A(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTAGTTCTGCCGCTTTTCGTA	0.403													T|||	481	0.0960463	0.1861	0.0187	5008	,	,		19176	0.1627		0.0119	False		,,,				2504	0.047				p.A1395A		Atlas-SNP	.											KIAA0368,NS,carcinoma,0,2	KIAA0368	144	2	1	Substitution - coding silent(1)	stomach(1)	c.G4185A						PASS	.	T		553,3193		43,467,1363	105	105	105		4185	-1.4	1	9	dbSNP_123	105	112,8080		0,112,3984	no	coding-synonymous	KIAA0368	NM_001080398.1		43,579,5347	TT,TC,CC		1.3672,14.7624,5.5704		1395/2018	114146832	665,11273	1873	4096	5969	SO:0001819	synonymous_variant	23392	exon35			TTCTGCCGCTTTT	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3651G>A	9.37:g.114146832C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	135	82	0.607407	NM_001080398	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																				C|0.908;T|0.092	0.092	strong		0.403	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114146832	C	T	114146832	2	4	22	1	0	0	0	0	0	0	0	1	8171	639	23	1		1	KIAA0368	9	114146832	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56555	114146832	27066599	5268	10376										
KIAA0368	23392	hgsc.bcm.edu	37	chr9	114182353	114182353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatatgatctgagggaaaCaccgtactggcaaatttcac	11	8	2	2	rs16916080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114182353C>T	ENST00000338205.5	-	15	1722	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	KIAA0368_ENST00000259335.4_Silent_p.V679V			Q5VYK3	ECM29_HUMAN	KIAA0368	507					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.V679V(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGAGGGAAACACCGTACTGG	0.398													C|||	479	0.095647	0.1868	0.0187	5008	,	,		13432	0.1627		0.0109	False		,,,				2504	0.045				p.V679V		Atlas-SNP	.											KIAA0368,NS,carcinoma,0,1	KIAA0368	144	1	1	Substitution - coding silent(1)	stomach(1)	c.G2037A						PASS	.	C		553,3213		43,467,1373	101	99	99		2037	5.4	1	9	dbSNP_123	99	114,8106		0,114,3996	no	coding-synonymous	KIAA0368	NM_001080398.1		43,581,5369	TT,TC,CC		1.3869,14.684,5.5648		679/2018	114182353	667,11319	1883	4110	5993	SO:0001819	synonymous_variant	23392	exon17			GGGAAACACCGTA	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1503G>A	9.37:g.114182353C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	58	36	0.62069	NM_001080398	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																				C|0.908;T|0.092	0.092	strong		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114182353	C	T	114182353	2	4	22	1	0	0	0	0	0	0	0	1	8171	465	17	2		2	KIAA0368	9	114182353	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35521	114182353	27031078	5269	10377										
KIAA0368	23392	hgsc.bcm.edu	37	chr9	114184477	114184477	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagtgaataaatgtggcatCcgactgcaaaagaatgtaaa	9	5	0	2	rs868405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114184477C>T	ENST00000338205.5	-	13	1488	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R	KIAA0368_ENST00000259335.4_Silent_p.R601R			Q5VYK3	ECM29_HUMAN	KIAA0368	429					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R601R(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AATGTGGCATCCGACTGCAAA	0.358													T|||	479	0.095647	0.1861	0.0187	5008	,	,		19517	0.1617		0.0109	False		,,,				2504	0.047				p.R601R		Atlas-SNP	.											KIAA0368,NS,carcinoma,0,1	KIAA0368	144	1	1	Substitution - coding silent(1)	stomach(1)	c.G1803A						scavenged	.	T		546,3132		43,460,1336	69	67	68		1803	2.6	1	9	dbSNP_86	68	113,8081		0,113,3984	no	coding-synonymous	KIAA0368	NM_001080398.1		43,573,5320	TT,TC,CC		1.3791,14.845,5.5509		601/2018	114184477	659,11213	1839	4097	5936	SO:0001819	synonymous_variant	23392	exon15			TGGCATCCGACTG	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1269G>A	9.37:g.114184477C>T		Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	92	52	0.565217	NM_001080398	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																				C|0.909;T|0.091	0.091	strong		0.358	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114184477	C	T	114184477	2	4	22	1	0	0	0	0	0	0	0	1	8171	842	30	2		2	KIAA0368	9	114184477	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2124	114184477	27028954	5270	10378										
DNAJC25	548645	hgsc.bcm.edu	37	chr9	114411945	114411945	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaaaatagatataaagggGggctatcagaaaccccaaat	9	6	1	2	rs7019332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114411945G>T	ENST00000313525.3	+	3	758	c.702G>T	c.(700-702)ggG>ggT	p.G234G	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	234						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATATAAAGGGGGGCTATCAGA	0.353													G|||	1563	0.312101	0.3517	0.4251	5008	,	,		18464	0.4127		0.2306	False		,,,				2504	0.1585				p.G234G		Atlas-SNP	.											.	DNAJC25	20	.	0			c.G702T						PASS	.	G	,	1147,2465		194,759,853	41	42	42		702,	-0.3	1	9	dbSNP_116	42	1718,6410		175,1368,2521	no	coding-synonymous,intron	DNAJC25,DNAJC25-GNG10	NM_001015882.2,NM_004125.3	,	369,2127,3374	TT,TG,GG		21.1368,31.7553,24.4037	,	234/361,	114411945	2865,8875	1806	4064	5870	SO:0001819	synonymous_variant	548645	exon3			AAAGGGGGGCTAT		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.702G>T	9.37:g.114411945G>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	67	25	0.373134	NM_001015882	Q5QTD8|Q96BN9	Silent	SNP	ENST00000313525.3	37	CCDS43862.1																																																																																			G|0.691;T|0.309	0.309	strong		0.353	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		T	114411945	G	T	114411945	2	4	22	1	0	0	0	0	0	0	0	1	4643	1219	43	4		4	DNAJC25	9	114411945	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	227468	114411945	26801486	5271	10379										
C9orf84	158401	hgsc.bcm.edu	37	chr9	114454735	114454735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggtgacgaaatttgcggTgattttgttatggaagaaga	14	2	0	5	rs73656294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:114454735T>C	ENST00000318737.4	-	25	3458	c.3330A>G	c.(3328-3330)tcA>tcG	p.S1110S	C9orf84_ENST00000394779.3_Silent_p.S1071S|C9orf84_ENST00000374287.3_Silent_p.S1110S|C9orf84_ENST00000394777.4_Silent_p.S1036S	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1110										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						AAATTTGCGGTGATTTTGTTA	0.323													T|||	67	0.0133786	0.0477	0.0058	5008	,	,		18851	0.0		0.0	False		,,,				2504	0.0				p.S1110S		Atlas-SNP	.											.	C9orf84	207	.	0			c.A3330G						PASS	.	T	,	151,4255		2,147,2054	53	58	57		3213,3330	3	1	9	dbSNP_130	57	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	C9orf84	NM_001080551.1,NM_173521.3	,	2,148,6348	CC,CT,TT		0.0116,3.4271,1.1696	,	1071/1406,1110/1445	114454735	152,12844	2203	4295	6498	SO:0001819	synonymous_variant	158401	exon25			TTGCGGTGATTTT	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.3330A>G	9.37:g.114454735T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	40	9	0.225	NM_173521	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	CCDS6781.3																																																																																			T|0.988;C|0.012	0.012	strong		0.323	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		C	114454735	T	C	114454735	2	2	22	1	0	0	0	0	0	0	0	1	2500	1683	59	2		2	C9orf84	9	114454735	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42790	114454735	26758696	5272	10380										
SNX30	401548	hgsc.bcm.edu	37	chr9	115567184	115567184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagatctcttcgttatagtTgatgatcccaagaagcatgt	9	7	1	4	rs1891402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:115567184T>C	ENST00000374232.3	+	2	449	c.285T>C	c.(283-285)gtT>gtC	p.V95V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	95	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCGTTATAGTTGATGATCCCA	0.438													C|||	4802	0.958866	0.9796	0.9654	5008	,	,		17614	0.999		0.9095	False		,,,				2504	0.9356				p.V95V		Atlas-SNP	.											.	SNX30	32	.	0			c.T285C						PASS	.	C		3818,114		1853,112,1	218	195	202		285	-0.1	1	9	dbSNP_92	202	7600,732		3467,666,33	no	coding-synonymous	SNX30	NM_001012994.1		5320,778,34	CC,CT,TT		8.7854,2.8993,6.8982		95/438	115567184	11418,846	1966	4166	6132	SO:0001819	synonymous_variant	401548	exon2			TATAGTTGATGAT	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.285T>C	9.37:g.115567184T>C		Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	176	175	0.994318	NM_001012994		Silent	SNP	ENST00000374232.3	37	CCDS43865.1																																																																																			T|0.054;C|0.946	0.946	strong		0.438	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			C	115567184	T	C	115567184	2	2	22	1	0	0	0	0	0	0	0	1	14900	1799	63	2		2	SNX30	9	115567184	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1112449	115567184	25646247	5273	10381										
SNX30	401548	hgsc.bcm.edu	37	chr9	115580008	115580008	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcgggtggagtttgacctGccagaatattctgttcgtcg	12	9	1	2	rs10117709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:115580008G>C	ENST00000374232.3	+	3	536	c.372G>C	c.(370-372)ctG>ctC	p.L124L		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	124	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTTTGACCTGCCAGAATATT	0.433													G|||	3829	0.764577	0.6384	0.7939	5008	,	,		18242	0.7877		0.7932	False		,,,				2504	0.8609				p.L124L		Atlas-SNP	.											.	SNX30	32	.	0			c.G372C						PASS	.	G		2506,1166		844,818,174	119	106	110		372	3.7	1	9	dbSNP_119	110	6573,1613		2651,1271,171	no	coding-synonymous	SNX30	NM_001012994.1		3495,2089,345	CC,CG,GG		19.7044,31.7538,23.4357		124/438	115580008	9079,2779	1836	4093	5929	SO:0001819	synonymous_variant	401548	exon3			TGACCTGCCAGAA	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.372G>C	9.37:g.115580008G>C		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	229	228	0.995633	NM_001012994		Silent	SNP	ENST00000374232.3	37	CCDS43865.1																																																																																			G|0.217;C|0.783	0.783	strong		0.433	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			C	115580008	G	C	115580008	2	2	22	1	0	0	0	0	0	0	0	1	14900	1306	46	4		4	SNX30	9	115580008	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12824	115580008	25633423	5274	10382										
SLC46A2	57864	hgsc.bcm.edu	37	chr9	115652836	115652836	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtaggacgccttcaccacGaggagtagccccgcatcgta	11	15	1	0	rs3802492	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:115652836G>A	ENST00000374228.4	-	1	357	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	42					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCTTCACCACGAGGAGTAGCC	0.677													G|||	1408	0.28115	0.3986	0.2363	5008	,	,		15844	0.0982		0.3191	False		,,,				2504	0.3037				p.L42L		Atlas-SNP	.											.	SLC46A2	30	.	0			c.C126T						PASS	.	G		1716,2690	514.7+/-368.7	349,1018,836	57	60	59		126	-1.1	1	9	dbSNP_107	59	2750,5850	437.4+/-358.6	472,1806,2022	no	coding-synonymous	SLC46A2	NM_033051.3		821,2824,2858	AA,AG,GG		31.9767,38.9469,34.338		42/476	115652836	4466,8540	2203	4300	6503	SO:0001819	synonymous_variant	57864	exon1			CACCACGAGGAGT	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.126C>T	9.37:g.115652836G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	48	48	1	NM_033051	B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	CCDS6786.1																																																																																			G|0.682;A|0.318	0.318	strong		0.677	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		A	115652836	G	A	115652836	2	1	22	1	0	0	0	0	0	0	0	1	14645	1045	37	1		1	SLC46A2	9	115652836	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72828	115652836	25560595	5275	10383										
FKBP15	23307	hgsc.bcm.edu	37	chr9	115931703	115931703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtctgaagtcagggacaGtcttgtggagctttcttgta	15	6	4	1	rs3810910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:115931703G>A	ENST00000238256.3	-	26	3403	c.3286C>T	c.(3286-3288)Ctg>Ttg	p.L1096L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1096					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GTCAGGGACAGTCTTGTGGAG	0.577													G|||	1420	0.283546	0.3351	0.2954	5008	,	,		17925	0.1617		0.3489	False		,,,				2504	0.2638				p.L1096L		Atlas-SNP	.											.	FKBP15	128	.	0			c.C3286T						PASS	.	G		1174,2710		177,820,945	96	98	98		3286	3.5	0	9	dbSNP_107	98	2704,5574		443,1818,1878	no	coding-synonymous	FKBP15	NM_015258.1		620,2638,2823	AA,AG,GG		32.6649,30.2266,31.8862		1096/1220	115931703	3878,8284	1942	4139	6081	SO:0001819	synonymous_variant	23307	exon26			GGGACAGTCTTGT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3286C>T	9.37:g.115931703G>A		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	227	225	0.991189	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																			G|0.712;A|0.288	0.288	strong		0.577	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		A	115931703	G	A	115931703	2	1	22	1	0	0	0	0	0	0	0	1	5905	1020	36	2		2	FKBP15	9	115931703	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	278867	115931703	25281728	5276	10384										
PRPF4	9128	hgsc.bcm.edu	37	chr9	116041316	116041316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgagcccggcagatcaaTgtttccacagatgactcaga	10	11	2	4	rs146246780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116041316T>C	ENST00000374198.4	+	3	402	c.300T>C	c.(298-300)aaT>aaC	p.N100N	PRPF4_ENST00000374199.4_Silent_p.N99N	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	100				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261). {ECO:0000305}.	gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGCAGATCAATGTTTCCACAG	0.473													T|||	7	0.00139776	0.0045	0.0014	5008	,	,		15580	0.0		0.0	False		,,,				2504	0.0				p.N100N		Atlas-SNP	.											.	PRPF4	56	.	0			c.T300C						PASS	.	T		14,4392	21.2+/-45.6	0,14,2189	95	91	92		300	0.2	1	9	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	PRPF4	NM_004697.3		0,14,6489	CC,CT,TT		0.0,0.3177,0.1076		100/523	116041316	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	9128	exon3			GATCAATGTTTCC	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.300T>C	9.37:g.116041316T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	97	57	0.587629	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	37	CCDS6791.1																																																																																			T|0.999;C|0.001	0.001	strong		0.473	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		C	116041316	T	C	116041316	2	2	22	1	0	0	0	0	0	0	0	1	12570	1461	51	2		2	PRPF4	9	116041316	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	109613	116041316	25172115	5277	10385										
PRPF4	9128	hgsc.bcm.edu	37	chr9	116053895	116053895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgatgggcagctcatagcCacttgctcatatgacaggac	10	12	2	1	rs146201781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116053895C>T	ENST00000374198.4	+	14	1626	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	PRPF4_ENST00000374199.4_Silent_p.A507A	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	508					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AGCTCATAGCCACTTGCTCAT	0.517													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		19015	0.0		0.0	False		,,,				2504	0.0				p.A508A		Atlas-SNP	.											.	PRPF4	56	.	0			c.C1524T						PASS	.	C		14,4392	21.2+/-45.6	0,14,2189	88	80	83		1524	3.9	1	9	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	PRPF4	NM_004697.3		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		508/523	116053895	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	9128	exon14			CATAGCCACTTGC	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.1524C>T	9.37:g.116053895C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	122	78	0.639344	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	37	CCDS6791.1																																																																																			C|0.999;T|0.001	0.001	strong		0.517	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		T	116053895	C	T	116053895	2	4	22	1	0	0	0	0	0	0	0	1	12570	581	21	2		2	PRPF4	9	116053895	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12579	116053895	25159536	5278	10386										
WDR31	114987	hgsc.bcm.edu	37	chr9	116085148	116085148	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtcaccacatcccacagAagcagggtgttgtcccgaga	10	14	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116085148A>C	ENST00000374193.4	-	7	759	c.513T>G	c.(511-513)ctT>ctG	p.L171L	WDR31_ENST00000374195.3_Silent_p.L46L|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L170L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	171										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCCACAGAAGCAGGGTGT	0.527																																					p.L171L		Atlas-SNP	.											.	WDR31	23	.	0			c.T513G						PASS	.						124	104	111					9																	116085148		2203	4300	6503	SO:0001819	synonymous_variant	114987	exon7			CCACAGAAGCAGG	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.513T>G	9.37:g.116085148A>C		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	195	68	0.348718	NM_001012361	Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	CCDS35110.1																																																																																			.	.	none		0.527	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		C	116085148	A	C	116085148	2	2	22	1	0	0	0	0	0	0	0	1	17283	233	9	5		5	WDR31	9	116085148	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31253	116085148	25128283	5279	10387										
BSPRY	54836	hgsc.bcm.edu	37	chr9	116122954	116122954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccgaggcgctgcagaaActtgacaccatccgcactgg	13	13	0	2	rs752757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116122954A>G	ENST00000374183.4	+	3	507	c.468A>G	c.(466-468)aaA>aaG	p.K156K	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	156					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGCTGCAGAAACTTGACACCA	0.617													G|||	1825	0.364417	0.5393	0.3343	5008	,	,		17996	0.3919		0.1978	False		,,,				2504	0.2924				p.K156K		Atlas-SNP	.											BSPRY,NS,carcinoma,0,2	BSPRY	21	2	0			c.A468G						PASS	.	G		1966,2332		424,1118,607	36	42	40		468	5.1	1	9	dbSNP_86	40	1813,6705		192,1429,2638	no	coding-synonymous	BSPRY	NM_017688.2		616,2547,3245	GG,GA,AA		21.2843,45.7422,29.4866		156/403	116122954	3779,9037	2149	4259	6408	SO:0001819	synonymous_variant	54836	exon3			GCAGAAACTTGAC	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.468A>G	9.37:g.116122954A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	85	19	0.223529	NM_017688	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	CCDS43868.1																																																																																			G|0.353;C|0.000;N|0.000;A|0.647	0.353	strong		0.617	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		G	116122954	A	G	116122954	2	3	22	1	0	0	0	0	0	0	0	1	1532	40	2	2		2	BSPRY	9	116122954	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37806	116122954	25090477	5280	10388										
BSPRY	54836	hgsc.bcm.edu	37	chr9	116131916	116131916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacagaggacatacggatcGatgagaggacagtcagcccc	13	11	1	2	rs377189582		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116131916G>A	ENST00000374183.4	+	6	742	c.703G>A	c.(703-705)Gat>Aat	p.D235N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATACGGATCGATGAGAGGAC	0.562																																					p.D235N		Atlas-SNP	.											.	BSPRY	21	.	0			c.G703A						PASS	.						85	85	85					9																	116131916		2012	4204	6216	SO:0001583	missense	54836	exon6			CGGATCGATGAGA	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.703G>A	9.37:g.116131916G>A	ENSP00000363298:p.Asp235Asn	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	50	0.746269	NM_017688	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868407	0.72065	.	.	ENSG00000119411	ENST00000374183	T	0.61274	0.12	5.6	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.047007	0.85682	D	0.000000	T	0.67951	0.2948	M	0.92317	3.295	0.58432	D	0.999992	P	0.44195	0.828	B	0.41174	0.349	T	0.76429	-0.2962	10	0.59425	D	0.04	-17.9828	13.9619	0.64185	0.0733:0.0:0.9267:0.0	.	235	Q5W0U4	BSPRY_HUMAN	N	235	ENSP00000363298:D235N	ENSP00000363298:D235N	D	+	1	0	BSPRY	115171737	1.000000	0.71417	0.645000	0.29479	0.973000	0.67179	4.224000	0.58593	1.355000	0.45865	0.561000	0.74099	GAT	.	.	alt		0.562	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		A	116131916	G	A	116131916	3	1	22	1	0	0	0	0	1	0	0	0	1532	1058	37	1	725	1	BSPRY	9	116131916	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8962	116131916	25081515	5281	10389										
RGS3	5998	hgsc.bcm.edu	37	chr9	116224452	116224452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttctccagccaggaagaGgatcacgcatgccaaagtcc	9	13	2	1	rs16933949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116224452G>A	ENST00000374140.2	+	4	595	c.386G>A	c.(385-387)aGg>aAg	p.R129K	RGS3_ENST00000350696.5_Missense_Mutation_p.R129K|RGS3_ENST00000317613.6_5'Flank	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	129			R -> K (in dbSNP:rs16933949).		inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCAGGAAGAGGATCACGCAT	0.537													G|||	288	0.057508	0.2088	0.0159	5008	,	,		16916	0.0		0.001	False		,,,				2504	0.0				p.R129K		Atlas-SNP	.											.	RGS3	251	.	0			c.G386A						PASS	.	G	LYS/ARG	726,3434		72,582,1426	77	81	79		386	-1.2	0	9	dbSNP_123	79	4,8432		0,4,4214	yes	missense	RGS3	NM_144488.4	26	72,586,5640	AA,AG,GG		0.0474,17.4519,5.7955	possibly-damaging	129/1199	116224452	730,11866	2080	4218	6298	SO:0001583	missense	5998	exon4			GGAAGAGGATCAC	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.386G>A	9.37:g.116224452G>A	ENSP00000363255:p.Arg129Lys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	105	72	0.685714	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	100	0.045787545787545784	93	0.18902439024390244	7	0.019337016574585635	0	0.0	0	0.0	G	6.337	0.430283	0.12045	0.174519	4.74E-4	ENSG00000138835	ENST00000374140;ENST00000350696	T;T	0.41065	1.01;1.01	4.39	-1.25	0.09405	.	.	.	.	.	T	0.00039	0.0001	N	0.12182	0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.15321	-1.0441	8	0.87932	D	0	.	7.8729	0.29576	0.5369:0.0:0.4631:0.0	rs16933949;rs59024905;rs16933949	129	P49796	RGS3_HUMAN	K	129	ENSP00000363255:R129K;ENSP00000259406:R129K	ENSP00000259406:R129K	R	+	2	0	RGS3	115264273	0.022000	0.18835	0.003000	0.11579	0.862000	0.49288	0.044000	0.13992	-0.349000	0.08274	0.591000	0.81541	AGG	G|0.957;A|0.043	0.043	strong		0.537	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116224452	G	A	116224452	3	1	22	1	0	0	0	0	1	0	0	0	13306	1000	35	2	396	2	RGS3	9	116224452	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	92536	116224452	24988979	5282	10390										
RGS3	5998	hgsc.bcm.edu	37	chr9	116279880	116279880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaggagctgctgctgtaTgaagggaggaacaaggctgc	16	7	1	2	rs35270441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116279880T>C	ENST00000374140.2	+	17	1943	c.1734T>C	c.(1732-1734)taT>taC	p.Y578Y	RGS3_ENST00000317613.6_Silent_p.Y466Y|RGS3_ENST00000374136.1_Silent_p.Y204Y|RGS3_ENST00000394646.3_Silent_p.Y297Y|RGS3_ENST00000350696.5_Silent_p.Y578Y|RGS3_ENST00000343817.5_Silent_p.Y297Y	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	578					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCTGCTGTATGAAGGGAGGA	0.537													C|||	417	0.0832668	0.1785	0.0663	5008	,	,		15392	0.0		0.0964	False		,,,				2504	0.0389				p.Y578Y		Atlas-SNP	.											.	RGS3	251	.	0			c.T1734C						PASS	.	C	,,	803,3603	750.3+/-412.1	87,629,1487	99	100	99		1398,891,1734	-4.2	0.8	9	dbSNP_126	99	861,7739	780.3+/-407.7	39,783,3478	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS3	NM_017790.3,NM_130795.2,NM_144488.4	,,	126,1412,4965	CC,CT,TT		10.0116,18.2251,12.7941	,,	466/603,297/918,578/1199	116279880	1664,11342	2203	4300	6503	SO:0001819	synonymous_variant	5998	exon17			GCTGTATGAAGGG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1734T>C	9.37:g.116279880T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	82	60	0.731707	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1	184	0.08424908424908426	81	0.16463414634146342	27	0.07458563535911603	0	0.0	76	0.10026385224274406	C	8.330	0.826272	0.16749	0.182251	0.100116	ENSG00000138835	ENST00000496113	.	.	.	4.88	-4.22	0.03800	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999665589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.128	0.31010	0.1119:0.2787:0.0:0.6094	rs35270441;rs61749205	.	.	.	R	33	.	.	X	+	1	0	RGS3	115319701	0.008000	0.16893	0.781000	0.31783	0.895000	0.52256	-1.812000	0.01726	-1.163000	0.02793	-1.476000	0.00998	TGA	T|0.889;C|0.111	0.111	strong		0.537	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		C	116279880	T	C	116279880	2	2	22	1	0	0	0	0	0	0	0	1	13306	1471	51	2		2	RGS3	9	116279880	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	55428	116279880	24933551	5283	10391										
RGS3	5998	hgsc.bcm.edu	37	chr9	116346118	116346118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccaggaatcccccacccGggaccttccaccctgtcaag	7	19	1	0	rs41305473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116346118G>A	ENST00000374140.2	+	21	2635	c.2426G>A	c.(2425-2427)cGg>cAg	p.R809Q	RGS3_ENST00000462143.1_Missense_Mutation_p.R130Q|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.R130Q|RGS3_ENST00000343817.5_Missense_Mutation_p.R528Q|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.R809Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	809	Pro-rich.		R -> Q (in dbSNP:rs41305473).		inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCCCACCCGGGACCTTCCA	0.617													g|||	428	0.0854633	0.18	0.0692	5008	,	,		17267	0.0		0.1034	False		,,,				2504	0.0389				p.R809Q		Atlas-SNP	.											.	RGS3	251	.	0			c.G2426A						PASS	.	G	GLN/ARG,GLN/ARG,,GLN/ARG	803,3603	322.9+/-297.8	85,633,1485	128	142	137		389,1583,,2426	2.6	1	9	dbSNP_127	137	900,7700	200.7+/-244.4	40,820,3440	yes	missense,missense,intron,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4	43,43,,43	125,1453,4925	AA,AG,GG		10.4651,18.2251,13.094	benign,benign,,benign	130/520,528/918,,809/1199	116346118	1703,11303	2203	4300	6503	SO:0001583	missense	5998	exon21			CCACCCGGGACCT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2426G>A	9.37:g.116346118G>A	ENSP00000363255:p.Arg809Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	93	62	0.666667	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	190	0.08699633699633699	82	0.16666666666666666	28	0.07734806629834254	0	0.0	80	0.10554089709762533	g	4.500	0.092706	0.08632	0.182251	0.104651	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.55760	1.0;1.0;0.5;0.51;0.51	4.97	2.57	0.30868	.	0.286735	0.28914	N	0.013727	T	0.00039	0.0001	N	0.01874	-0.695	0.09310	P	0.999999999897227	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.14896	-1.0456	9	0.05525	T	0.97	.	2.2403	0.04018	0.5987:0.1609:0.0857:0.1548	rs41305473;rs61754069	148;705;130;528;699;809	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	Q	809;809;528;130;130	ENSP00000363255:R809Q;ENSP00000259406:R809Q;ENSP00000340284:R528Q;ENSP00000420356:R130Q;ENSP00000363249:R130Q	ENSP00000340284:R528Q	R	+	2	0	RGS3	115385939	0.847000	0.29606	0.953000	0.39169	0.214000	0.24535	0.807000	0.27140	0.424000	0.26061	-0.285000	0.09966	CGG	G|0.884;A|0.116	0.116	strong		0.617	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116346118	G	A	116346118	3	1	22	1	0	0	0	0	1	0	0	0	13306	1116	39	1	2757	1	RGS3	9	116346118	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66238	116346118	24867313	5284	10392										
RGS3	5998	hgsc.bcm.edu	37	chr9	116346236	116346236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctactggggacccacctgcGgcccccaggccagccttcgt	12	18	0	0	rs41301525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116346236G>A	ENST00000374140.2	+	21	2753	c.2544G>A	c.(2542-2544)gcG>gcA	p.A848A	RGS3_ENST00000462143.1_Silent_p.A169A|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Silent_p.A169A|RGS3_ENST00000343817.5_Silent_p.A567A|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Silent_p.A848A	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCCACCTGCGGCCCCCAGGC	0.642													G|||	421	0.0840655	0.18	0.0663	5008	,	,		17005	0.0		0.0974	False		,,,				2504	0.0399				p.A848A		Atlas-SNP	.											.	RGS3	251	.	0			c.G2544A						PASS	.	G	,,,	797,3609	319.1+/-295.9	83,631,1489	48	54	52		507,1701,,2544	0.2	0.1	9	dbSNP_127	52	862,7738	194.8+/-240.1	39,784,3477	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4	,,,	122,1415,4966	AA,AG,GG		10.0233,18.089,12.7557	,,,	169/520,567/918,,848/1199	116346236	1659,11347	2203	4300	6503	SO:0001819	synonymous_variant	5998	exon21			ACCTGCGGCCCCC	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2544G>A	9.37:g.116346236G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	105	68	0.647619	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																			G|0.886;A|0.114	0.114	strong		0.642	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116346236	G	A	116346236	2	1	22	1	0	0	0	0	0	0	0	1	13306	1103	39	1		1	RGS3	9	116346236	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118	116346236	24867195	5285	10393										
RGS3	5998	hgsc.bcm.edu	37	chr9	116356389	116356389	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgtctgagtcccagcccCggcttgtgcctgggagtcca	12	15	1	1	rs57845277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116356389C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.R64W|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCCAGCCCCGGCTTGTGCC	0.637													C|||	54	0.0107827	0.0393	0.0029	5008	,	,		15146	0.0		0.0	False		,,,				2504	0.0				p.R64W		Atlas-SNP	.											.	RGS3	251	.	0			c.C190T						PASS	.	C	,,,,TRP/ARG	146,4260		5,136,2062	66	74	71		,,,,190	-5.5	0	9	dbSNP_129	71	1,8599		0,1,4299	no	intron,intron,intron,intron,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4,NM_144489.2	,,,,101	5,137,6361	TT,TC,CC		0.0116,3.3137,1.1302	,,,,	,,,,64/312	116356389	147,12859	2203	4300	6503	SO:0001627	intron_variant	5998	exon1			CAGCCCCGGCTTG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-321C>T	9.37:g.116356389C>T		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	259	94	0.362934	NM_144489	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	C	1.749	-0.489752	0.04352	0.033137	1.16E-4	ENSG00000138835	ENST00000462403	T	0.62232	0.04	4.25	-5.51	0.02568	.	.	.	.	.	T	0.12390	0.0301	N	0.08118	0	0.20074	N	0.999939	B	0.02656	0.0	B	0.01281	0.0	T	0.09707	-1.0662	9	0.87932	D	0	.	0.1774	0.00120	0.2449:0.2726:0.1703:0.3122	rs57845277	64	Q5VZ06	.	W	64	ENSP00000436168:R64W	ENSP00000436168:R64W	R	+	1	2	RGS3	115396210	0.000000	0.05858	0.010000	0.14722	0.220000	0.24768	-2.218000	0.01219	-1.939000	0.01044	-1.946000	0.00489	CGG	C|0.988;T|0.012	0.012	strong		0.637	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		T	116356389	C	T	116356389	1	4	22	0	1	0	0	0	0	0	0	0	13306	643	23	1		1	RGS3	9	116356389	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10153	116356389	24857042	5286	10394										
RGS3	5998	hgsc.bcm.edu	37	chr9	116356549	116356549	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccccaaggtggggggccCtacagagatgctccgaggca	16	13	0	1	rs113405588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116356549C>G	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.P117R|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGGGGGGCCCTACAGAGATG	0.662													C|||	68	0.0135783	0.0492	0.0043	5008	,	,		13726	0.0		0.0	False		,,,				2504	0.0				p.P117R		Atlas-SNP	.											.	RGS3	251	.	0			c.C350G						PASS	.	C	,,,,ARG/PRO	206,4196		8,190,2003	37	45	42		,,,,350	5.2	0.8	9	dbSNP_132	42	1,8595		0,1,4297	yes	intron,intron,intron,intron,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4,NM_144489.2	,,,,103	8,191,6300	GG,GC,CC		0.0116,4.6797,1.5926	,,,,	,,,,117/312	116356549	207,12791	2201	4298	6499	SO:0001627	intron_variant	5998	exon1			GGGGCCCTACAGA	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-161C>G	9.37:g.116356549C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	42	0.583333	NM_144489	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	C	14.66	2.600389	0.46423	0.046797	1.16E-4	ENSG00000138835	ENST00000462403	T	0.65364	-0.15	5.23	5.23	0.72850	.	.	.	.	.	T	0.09949	0.0244	N	0.14661	0.345	0.47819	D	0.99952	P	0.41313	0.745	B	0.36418	0.224	T	0.14200	-1.0481	9	0.49607	T	0.09	.	11.4969	0.50413	0.1792:0.8208:0.0:0.0	.	117	Q5VZ06	.	R	117	ENSP00000436168:P117R	ENSP00000436168:P117R	P	+	2	0	RGS3	115396370	0.373000	0.25073	0.808000	0.32385	0.977000	0.68977	2.249000	0.43169	2.442000	0.82660	0.558000	0.71614	CCT	C|0.988;G|0.012	0.012	strong		0.662	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		G	116356549	C	G	116356549	1	3	22	0	1	0	0	0	0	0	0	0	13306	681	24	4		4	RGS3	9	116356549	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	160	116356549	24856882	5287	10395										
ZNF618	114991	hgsc.bcm.edu	37	chr9	116810204	116810204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaacattgcctccaaccaGtcccgatcgccacctgctgt	6	17	0	0	rs12378906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116810204G>A	ENST00000374126.5	+	14	1377	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	ZNF618_ENST00000288466.7_Silent_p.Q333Q|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTCCAACCAGTCCCGATCGC	0.532													G|||	329	0.0656949	0.1203	0.0605	5008	,	,		21014	0.0		0.0885	False		,,,				2504	0.0399				p.Q333Q		Atlas-SNP	.											.	ZNF618	184	.	0			c.G999A						PASS	.	G		467,3649		17,433,1608	75	78	77		999	3.6	1	9	dbSNP_120	77	715,7715		33,649,3533	yes	coding-synonymous	ZNF618	NM_133374.2		50,1082,5141	AA,AG,GG		8.4816,11.346,9.4213		333/862	116810204	1182,11364	2058	4215	6273	SO:0001819	synonymous_variant	114991	exon13			CAACCAGTCCCGA	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1278G>A	9.37:g.116810204G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	121	57	0.471074	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				G|0.927;A|0.073	0.073	strong		0.532	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116810204	G	A	116810204	2	1	22	1	0	0	0	0	0	0	0	1	18039	1020	36	2		2	ZNF618	9	116810204	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	453655	116810204	24403227	5288	10396										
ZNF618	114991	hgsc.bcm.edu	37	chr9	116811184	116811184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcatgtacaaccaggtgaaGgtgaaagtgacctgtgcctt	12	9	0	3	rs7852282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116811184G>A	ENST00000374126.5	+	15	1701	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	ZNF618_ENST00000288466.7_Silent_p.K441K|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACCAGGTGAAGGTGAAAGTGA	0.587													G|||	338	0.067492	0.2375	0.0303	5008	,	,		21657	0.0		0.0	False		,,,				2504	0.0031				p.K441K		Atlas-SNP	.											.	ZNF618	184	.	0			c.G1323A						PASS	.	G		796,3538		77,642,1448	27	30	29		1323	3.5	1	9	dbSNP_116	29	18,8520		0,18,4251	no	coding-synonymous	ZNF618	NM_133374.2		77,660,5699	AA,AG,GG		0.2108,18.3664,6.3238		441/862	116811184	814,12058	2167	4269	6436	SO:0001819	synonymous_variant	114991	exon14			GGTGAAGGTGAAA	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1602G>A	9.37:g.116811184G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	60	38	0.633333	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				G|0.921;A|0.079	0.079	strong		0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116811184	G	A	116811184	2	1	22	1	0	0	0	0	0	0	0	1	18039	991	35	2		2	ZNF618	9	116811184	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	980	116811184	24402247	5289	10397										
ZNF618	114991	hgsc.bcm.edu	37	chr9	116812084	116812084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtctgtgagctcatcaaCgaggtgaaggagtcctgggc	15	8	3	2	rs7856141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116812084C>T	ENST00000374126.5	+	15	2601	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	ZNF618_ENST00000288466.7_Silent_p.N741N|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	834					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGCTCATCAACGAGGTGAAGG	0.637													C|||	339	0.0676917	0.1271	0.0605	5008	,	,		19158	0.0		0.0895	False		,,,				2504	0.0399				p.N741N		Atlas-SNP	.											.	ZNF618	184	.	0			c.C2223T						PASS	.	C		488,3642		20,448,1597	61	68	65		2223	-11.3	0.1	9	dbSNP_116	65	707,7651		34,639,3506	no	coding-synonymous	ZNF618	NM_133374.2		54,1087,5103	TT,TC,CC		8.459,11.816,9.5692		741/862	116812084	1195,11293	2065	4179	6244	SO:0001819	synonymous_variant	114991	exon14			CATCAACGAGGTG	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2502C>T	9.37:g.116812084C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	73	24	0.328767	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				C|0.923;T|0.077	0.077	strong		0.637	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116812084	C	T	116812084	2	4	22	1	0	0	0	0	0	0	0	1	18039	535	19	1		1	ZNF618	9	116812084	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	900	116812084	24401347	5290	10398										
KIF12	113220	hgsc.bcm.edu	37	chr9	116856481	116856481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagcctctcattctctagCatgaactcctgtagcatccc	6	15	2	2	rs35719524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116856481C>A	ENST00000374118.3	-	10	1116	c.879G>T	c.(877-879)atG>atT	p.M293I	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	426	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CATTCTCTAGCATGAACTCCT	0.627													C|||	485	0.096845	0.1218	0.1052	5008	,	,		16353	0.001		0.164	False		,,,				2504	0.0869				p.M293I		Atlas-SNP	.											.	KIF12	35	.	0			c.G879T						PASS	.	C	ILE/MET	678,3728	286.3+/-278.7	58,562,1583	63	66	65		879	5.6	1	9	dbSNP_126	65	1541,7059	289.0+/-299.1	132,1277,2891	yes	missense	KIF12	NM_138424.1	10	190,1839,4474	AA,AC,CC		17.9186,15.3881,17.0614	benign	293/514	116856481	2219,10787	2203	4300	6503	SO:0001583	missense	113220	exon10			CTCTAGCATGAAC	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.879G>T	9.37:g.116856481C>A	ENSP00000363232:p.Met293Ile	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	72	46	0.638889	NM_138424	Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	CCDS6801.1	236	0.10805860805860806	69	0.1402439024390244	42	0.11602209944751381	1	0.0017482517482517483	124	0.16358839050131926	C	17.41	3.382259	0.61845	0.153881	0.179186	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.73681	-0.77	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.00241	0.0007	L	0.34521	1.04	0.25332	P	0.9890252	B	0.33266	0.404	B	0.32533	0.147	T	0.10132	-1.0643	9	0.36615	T	0.2	.	15.0246	0.71659	0.0:1.0:0.0:0.0	rs35719524;rs62556539	426	Q96FN5	KIF12_HUMAN	I	293;426	ENSP00000363232:M293I	ENSP00000259410:M426I	M	-	3	0	KIF12	115896302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.060000	0.41394	2.608000	0.88229	0.655000	0.94253	ATG	C|0.851;A|0.149	0.149	strong		0.627	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		A	116856481	C	A	116856481	3	1	22	1	0	0	0	0	1	0	0	0	8273	710	25	4	690	4	KIF12	9	116856481	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44397	116856481	24356950	5291	10399										
KIF12	113220	hgsc.bcm.edu	37	chr9	116859631	116859631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcccaaattccaccaccCgcagctgctccacatagaag	6	17	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116859631C>T	ENST00000374118.3	-	4	419	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	194	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCCACCACCCGCAGCTGCTC	0.622																																					p.R61Q		Atlas-SNP	.											KIF12,NS,carcinoma,-1,1	KIF12	35	1	0			c.G182A						scavenged	.						37	40	39					9																	116859631		2203	4300	6503	SO:0001583	missense	113220	exon4			ACCACCCGCAGCT	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.182G>A	9.37:g.116859631C>T	ENSP00000363232:p.Arg61Gln	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	226	4	0.0176991	NM_138424	Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672966	0.29693	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.74842	-0.88	5.44	3.36	0.38483	Kinesin, motor domain (4);	0.541938	0.17542	N	0.170484	T	0.54175	0.1842	N	0.16266	0.395	0.31159	N	0.70452	B	0.22080	0.064	B	0.16289	0.015	T	0.54912	-0.8222	10	0.49607	T	0.09	.	5.373	0.16150	0.0:0.7195:0.0:0.2805	.	194	Q96FN5	KIF12_HUMAN	Q	61;194	ENSP00000363232:R61Q	ENSP00000259410:R194Q	R	-	2	0	KIF12	115899452	0.139000	0.22563	0.996000	0.52242	0.408000	0.30992	1.023000	0.30065	1.290000	0.44636	0.555000	0.69702	CGG	.	.	none		0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		T	116859631	C	T	116859631	3	4	22	1	0	0	0	0	1	0	0	0	8273	652	23	1	1411	1	KIF12	9	116859631	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3150	116859631	24353800	5292	10400										
COL27A1	85301	hgsc.bcm.edu	37	chr9	116930013	116930013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcagctggacgaaggccGggagccctgcacccccggga	15	16	1	0	rs74339956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116930013G>A	ENST00000356083.3	+	3	569	c.178G>A	c.(178-180)Ggg>Agg	p.G60R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	60					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACGAAGGCCGGGAGCCCTGC	0.677													G|||	70	0.0139776	0.0522	0.0014	5008	,	,		16813	0.0		0.0	False		,,,				2504	0.0				p.G60R		Atlas-SNP	.											.	COL27A1	200	.	0			c.G178A						PASS	.	G	ARG/GLY	211,4195	122.5+/-159.9	6,199,1998	71	84	80		178	2.3	1	9	dbSNP_131	80	0,8598		0,0,4299	yes	missense	COL27A1	NM_032888.2	125	6,199,6297	AA,AG,GG		0.0,4.7889,1.6226	benign	60/1861	116930013	211,12793	2203	4299	6502	SO:0001583	missense	85301	exon3			AAGGCCGGGAGCC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.178G>A	9.37:g.116930013G>A	ENSP00000348385:p.Gly60Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	102	37	0.362745	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	9.795	1.179007	0.21787	0.047889	0.0	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.03242	4.0;4.0	5.32	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.00300	0.0009	N	0.01576	-0.805	0.24118	N	0.995813	B	0.02656	0.0	B	0.01281	0.0	T	0.48885	-0.8995	9	0.32370	T	0.25	.	6.932	0.24447	0.0:0.5451:0.36:0.095	.	60	Q8IZC6	CORA1_HUMAN	R	60;60;7;7	ENSP00000348385:G60R;ENSP00000391328:G7R	ENSP00000348385:G60R	G	+	1	0	COL27A1	115969834	0.010000	0.17322	1.000000	0.80357	0.271000	0.26615	1.569000	0.36428	0.627000	0.30340	-0.516000	0.04426	GGG	G|0.985;A|0.015	0.015	strong		0.677	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116930013	G	A	116930013	3	1	22	1	0	0	0	0	1	0	0	0	3685	1116	39	1	188	1	COL27A1	9	116930013	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70382	116930013	24283418	5293	10401			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116930100	116930100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggctcccacgggcaccGtcattcctgccgccttgggc	11	18	1	0	rs2567707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116930100G>A	ENST00000356083.3	+	3	656	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	89	Laminin G-like.		V -> I (in dbSNP:rs2567707).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACGGGCACCGTCATTCCTGC	0.662													G|||	678	0.135383	0.1634	0.1427	5008	,	,		16185	0.001		0.2704	False		,,,				2504	0.092				p.V89I		Atlas-SNP	.											.	COL27A1	200	.	0			c.G265A						PASS	.	G	ILE/VAL	732,3674	296.4+/-284.2	61,610,1532	56	62	60		265	0.9	0	9	dbSNP_100	60	2199,6401	364.2+/-333.4	272,1655,2373	yes	missense	COL27A1	NM_032888.2	29	333,2265,3905	AA,AG,GG		25.5698,16.6137,22.5358	benign	89/1861	116930100	2931,10075	2203	4300	6503	SO:0001583	missense	85301	exon3			GGCACCGTCATTC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.265G>A	9.37:g.116930100G>A	ENSP00000348385:p.Val89Ile	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	77	52	0.675325	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	332	0.152014652014652	82	0.16666666666666666	61	0.1685082872928177	1	0.0017482517482517483	188	0.24802110817941952	G	1.272	-0.612896	0.03690	0.166137	0.255698	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02140	4.43;4.43	5.32	0.882	0.19172	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.20610	0.595	0.80722	P	0.0	B	0.22211	0.066	B	0.11329	0.006	T	0.44143	-0.9347	8	0.20046	T	0.44	.	8.2128	0.31494	0.4585:0.0:0.5415:0.0	rs2567707;rs17801084;rs52825865;rs57459248;rs2567707	89	Q8IZC6	CORA1_HUMAN	I	89;89;36;36	ENSP00000348385:V89I;ENSP00000391328:V36I	ENSP00000348385:V89I	V	+	1	0	COL27A1	115969921	0.001000	0.12720	0.011000	0.14972	0.085000	0.17905	-0.062000	0.11674	0.249000	0.21456	-0.439000	0.05793	GTC	G|0.811;A|0.189	0.189	strong		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116930100	G	A	116930100	3	1	22	1	0	0	0	0	1	0	0	0	3685	1145	40	1	275	1	COL27A1	9	116930100	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87	116930100	24283331	5294	10402			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116930194	116930194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttcgctgtccgcagccAgaaacgcaagctgcagctgg	11	15	1	1	rs2567706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116930194A>G	ENST00000356083.3	+	3	750	c.359A>G	c.(358-360)cAg>cGg	p.Q120R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	120	Laminin G-like.		Q -> R (in dbSNP:rs2567706).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTCCGCAGCCAGAAACGCAAG	0.662													G|||	1060	0.211661	0.3033	0.17	5008	,	,		16427	0.1329		0.2883	False		,,,				2504	0.1196				p.Q120R		Atlas-SNP	.											.	COL27A1	200	.	0			c.A359G						PASS	.	G	ARG/GLN	1367,3037	682.0+/-404.1	209,949,1044	60	61	61		359	2.2	1	9	dbSNP_100	61	2356,6244	692.5+/-404.6	317,1722,2261	yes	missense	COL27A1	NM_032888.2	43	526,2671,3305	GG,GA,AA		27.3953,31.04,28.6297	benign	120/1861	116930194	3723,9281	2202	4300	6502	SO:0001583	missense	85301	exon3			GCAGCCAGAAACG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.359A>G	9.37:g.116930194A>G	ENSP00000348385:p.Gln120Arg	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	63	45	0.714286	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	496	0.2271062271062271	155	0.3150406504065041	69	0.19060773480662985	69	0.12062937062937062	203	0.2678100263852243	G	8.628	0.893086	0.17613	0.3104	0.273953	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02067	4.47;4.47	5.14	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.00538	-1.39	0.53688	P	2.5000000000052758E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	8	0.02654	T	1	.	4.1964	0.10445	0.3302:0.0:0.5205:0.1493	rs2567706;rs17801114;rs52832119;rs60803978;rs2567706	120	Q8IZC6	CORA1_HUMAN	R	120;120;67;67	ENSP00000348385:Q120R;ENSP00000391328:Q67R	ENSP00000348385:Q120R	Q	+	2	0	COL27A1	115970015	0.940000	0.31905	0.997000	0.53966	0.805000	0.45488	0.676000	0.25247	0.213000	0.20722	-1.700000	0.00722	CAG	A|0.748;G|0.252	0.252	strong		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		G	116930194	A	G	116930194	3	3	22	1	0	0	0	0	1	0	0	0	3685	188	7	3	369	3	COL27A1	9	116930194	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94	116930194	24283237	5295	10403			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116931099	116931099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccagagtctcccgtcccGcagagaagcccatccagagg	11	16	1	3	rs2241671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116931099G>A	ENST00000356083.3	+	3	1655	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	422	Pro-rich.		A -> T (in dbSNP:rs2241671). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.A422T(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCCGTCCCGCAGAGAAGCC	0.592													G|||	1885	0.376398	0.3041	0.317	5008	,	,		14098	0.5129		0.4304	False		,,,				2504	0.32				p.A422T		Atlas-SNP	.											COL27A1,NS,carcinoma,0,1	COL27A1	200	1	1	Substitution - Missense(1)	stomach(1)	c.G1264A						PASS	.	G	THR/ALA	1469,2937	473.3+/-356.6	230,1009,964	115	137	130		1264	-8.5	0	9	dbSNP_98	130	3717,4883	531.2+/-381.9	788,2141,1371	yes	missense	COL27A1	NM_032888.2	58	1018,3150,2335	AA,AG,GG		43.2209,33.3409,39.8739	benign	422/1861	116931099	5186,7820	2203	4300	6503	SO:0001583	missense	85301	exon3			CGTCCCGCAGAGA	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1264G>A	9.37:g.116931099G>A	ENSP00000348385:p.Ala422Thr	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	128	90	0.703125	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	900	0.41208791208791207	154	0.3130081300813008	126	0.34806629834254144	303	0.5297202797202797	317	0.4182058047493404	G	8.990	0.977384	0.18812	0.333409	0.432209	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.90676	-2.45;-2.71	4.26	-8.53	0.00916	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.22871	-1.0204	8	0.02654	T	1	.	1.1229	0.01728	0.3173:0.2275:0.0884:0.3667	rs2241671;rs17207056;rs57097923;rs2241671	422;369	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	422;422;369;369	ENSP00000348385:A422T;ENSP00000391328:A369T	ENSP00000348385:A422T	A	+	1	0	COL27A1	115970920	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.604000	0.05667	-1.614000	0.01575	-2.761000	0.00122	GCA	G|0.596;A|0.404	0.404	strong		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116931099	G	A	116931099	3	1	22	1	0	0	0	0	1	0	0	0	3685	1087	38	1	1274	1	COL27A1	9	116931099	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	905	116931099	24282332	5296	10404			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116931445	116931445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactggaagcaagaagcccaTtggatcggaagcctcaaaga	11	10	1	2	rs2808770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116931445T>C	ENST00000356083.3	+	3	2001	c.1610T>C	c.(1609-1611)aTt>aCt	p.I537T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	537	Pro-rich.		I -> T (in dbSNP:rs2808770). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAGAAGCCCATTGGATCGGAA	0.627													C|||	1091	0.217851	0.3048	0.183	5008	,	,		14995	0.1339		0.2992	False		,,,				2504	0.1278				p.I537T		Atlas-SNP	.											.	COL27A1	200	.	0			c.T1610C						PASS	.	C	THR/ILE	1367,3039	690.7+/-405.3	211,945,1047	87	107	100		1610	4.5	0.7	9	dbSNP_100	100	2409,6191	699.2+/-405.1	328,1753,2219	yes	missense	COL27A1	NM_032888.2	89	539,2698,3266	CC,CT,TT		28.0116,31.0259,29.0328	benign	537/1861	116931445	3776,9230	2203	4300	6503	SO:0001583	missense	85301	exon3			AGCCCATTGGATC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1610T>C	9.37:g.116931445T>C	ENSP00000348385:p.Ile537Thr	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	101	60	0.594059	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	513	0.2348901098901099	157	0.31910569105691056	74	0.20441988950276244	70	0.12237762237762238	212	0.2796833773087071	C	6.209	0.406695	0.11754	0.310259	0.280116	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.90732	-2.47;-2.72	5.41	4.51	0.55191	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04128	-1.0975	8	0.07990	T	0.79	.	8.4602	0.32923	0.0:0.8205:0.0:0.1795	rs2808770;rs52809082;rs57844925;rs2808770	537;484	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	537;537;484;484	ENSP00000348385:I537T;ENSP00000391328:I484T	ENSP00000348385:I537T	I	+	2	0	COL27A1	115971266	0.000000	0.05858	0.709000	0.30452	0.168000	0.22595	0.053000	0.14184	0.670000	0.31165	-0.213000	0.12676	ATT	C|0.259;N|0.000	0.259	strong		0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		C	116931445	T	C	116931445	3	2	22	1	0	0	0	0	1	0	0	0	3685	1493	52	2	1620	2	COL27A1	9	116931445	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	346	116931445	24281986	5297	10405			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116931666	116931666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgagcagtggctattcgAtcttccacctggcaggatct	10	13	2	0	rs2567705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116931666A>T	ENST00000356083.3	+	3	2222	c.1831A>T	c.(1831-1833)Atc>Ttc	p.I611F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	611	Pro-rich.		I -> F (in dbSNP:rs2567705). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGCTATTCGATCTTCCACCT	0.647													T|||	1457	0.290935	0.3654	0.2795	5008	,	,		16947	0.1151		0.4215	False		,,,				2504	0.2454				p.I611F		Atlas-SNP	.											.	COL27A1	200	.	0			c.A1831T						PASS	.	T	PHE/ILE	1664,2742	652.9+/-399.5	313,1038,852	59	66	64		1831	4.7	0.7	9	dbSNP_100	64	3368,5232	639.6+/-399.5	666,2036,1598	yes	missense	COL27A1	NM_032888.2	21	979,3074,2450	TT,TA,AA		39.1628,37.7667,38.6898	benign	611/1861	116931666	5032,7974	2203	4300	6503	SO:0001583	missense	85301	exon3			TATTCGATCTTCC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1831A>T	9.37:g.116931666A>T	ENSP00000348385:p.Ile611Phe	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	657	0.3008241758241758	180	0.36585365853658536	114	0.3149171270718232	58	0.10139860139860139	305	0.4023746701846966	T	11.39	1.623941	0.28889	0.377667	0.391628	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.96136	-3.92;-2.73	4.66	4.66	0.58398	.	.	.	.	.	T	0.00012	0.0000	N	0.00926	-1.1	0.48087	P	4.1400000000002546E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27262	-1.0079	8	0.02654	T	1	.	7.5893	0.28012	0.1893:0.0:0.0:0.8107	rs2567705;rs17801180;rs59019220;rs2567705	611;558	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	F	611;611;558;558	ENSP00000348385:I611F;ENSP00000391328:I558F	ENSP00000348385:I611F	I	+	1	0	COL27A1	115971487	0.777000	0.28628	0.708000	0.30435	0.682000	0.39822	0.927000	0.28818	0.823000	0.34589	-0.364000	0.07487	ATC	A|0.648;T|0.352	0.352	strong		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931666	A	T	116931666	3	4	22	1	0	0	0	0	1	0	0	0	3685	333	12	5	1841	5	COL27A1	9	116931666	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	221	116931666	24281765	5298	10406			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116931737	116931737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacccaagggagactgtggCttgccggtaagactgagtgg	17	8	0	3	rs2808771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116931737C>T	ENST00000356083.3	+	3	2293	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	634	Collagen-like 1.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGACTGTGGCTTGCCGGTAA	0.607													T|||	1078	0.215256	0.295	0.183	5008	,	,		16987	0.1339		0.2992	False		,,,				2504	0.1278				p.G634G		Atlas-SNP	.											.	COL27A1	200	.	0			c.C1902T						PASS	.	T		1340,3066		210,920,1073	41	43	42		1902	-0.9	0.9	9	dbSNP_100	42	2400,6196		329,1742,2227	no	coding-synonymous	COL27A1	NM_032888.2		539,2662,3300	TT,TC,CC		27.92,30.4131,28.7648		634/1861	116931737	3740,9262	2203	4298	6501	SO:0001819	synonymous_variant	85301	exon3			CTGTGGCTTGCCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1902C>T	9.37:g.116931737C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	20	10	0.5	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			C|0.745;T|0.255	0.255	strong		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931737	C	T	116931737	2	4	22	1	0	0	0	0	0	0	0	1	3685	784	28	2		2	COL27A1	9	116931737	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71	116931737	24281694	5299	10407			17	46	9568371	7	7	1725	N	T_G_C_A	4.431077e-05
COL27A1	85301	hgsc.bcm.edu	37	chr9	116958283	116958283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgggaatccaggacctccGggacgaaaggtactgtttgg	14	10	0	0	rs10982098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:116958283G>A	ENST00000356083.3	+	7	2506	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	705	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGACCTCCGGGACGAAAGG	0.592													G|||	39	0.00778754	0.0295	0.0	5008	,	,		19536	0.0		0.0	False		,,,				2504	0.0				p.P705P		Atlas-SNP	.											.	COL27A1	200	.	0			c.G2115A						PASS	.	G		101,4305	79.3+/-117.8	2,97,2104	160	134	143		2115	1.2	0.4	9	dbSNP_120	143	0,8600		0,0,4300	no	coding-synonymous	COL27A1	NM_032888.2		2,97,6404	AA,AG,GG		0.0,2.2923,0.7766		705/1861	116958283	101,12905	2203	4300	6503	SO:0001819	synonymous_variant	85301	exon7			ACCTCCGGGACGA	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2115G>A	9.37:g.116958283G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	77	27	0.350649	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			G|0.993;A|0.007	0.007	strong		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116958283	G	A	116958283	2	1	22	1	0	0	0	0	0	0	0	1	3685	1103	39	1		1	COL27A1	9	116958283	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26546	116958283	24255148	5300	10408										
COL27A1	85301	hgsc.bcm.edu	37	chr9	117051020	117051020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaccgcggggaaccgggAgaccctgggtaccctgtaag	17	11	0	2	rs1687410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117051020A>G	ENST00000356083.3	+	43	4474	c.4083A>G	c.(4081-4083)ggA>ggG	p.G1361G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1361	Collagen-like 12.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGAACCGGGAGACCCTGGGT	0.577													G|||	1173	0.234225	0.3631	0.1988	5008	,	,		15830	0.2827		0.1372	False		,,,				2504	0.135				p.G1361G		Atlas-SNP	.											.	COL27A1	200	.	0			c.A4083G						PASS	.	G		1440,2966	676.4+/-403.2	249,942,1012	59	64	62		4083	2.8	1	9	dbSNP_89	62	1142,7458	764.3+/-407.6	75,992,3233	no	coding-synonymous	COL27A1	NM_032888.2		324,1934,4245	GG,GA,AA		13.2791,32.6827,19.8524		1361/1861	117051020	2582,10424	2203	4300	6503	SO:0001819	synonymous_variant	85301	exon43			ACCGGGAGACCCT	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4083A>G	9.37:g.117051020A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	100	69	0.69	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			A|0.790;G|0.210	0.210	strong		0.577	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		G	117051020	A	G	117051020	2	3	22	1	0	0	0	0	0	0	0	1	3685	291	11	3		3	COL27A1	9	117051020	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	92737	117051020	24162411	5301	10409										
COL27A1	85301	hgsc.bcm.edu	37	chr9	117068826	117068826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctatccagaccggctggtGctggaccagggaggagagat	16	9	0	2	rs1249762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117068826G>A	ENST00000356083.3	+	58	5356	c.4965G>A	c.(4963-4965)gtG>gtA	p.V1655V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1655					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCGGCTGGTGCTGGACCAGG	0.587											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	112	0.0223642	0.0847	0.0	5008	,	,		14302	0.0		0.0	False		,,,				2504	0.0				p.V1655V		Atlas-SNP	.											.	COL27A1	200	.	0			c.G4965A						PASS	.	G		298,4108	162.9+/-194.8	12,274,1917	61	64	63		4965	4.4	1	9	dbSNP_87	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL27A1	NM_032888.2		12,275,6216	AA,AG,GG		0.0116,6.7635,2.2989		1655/1861	117068826	299,12707	2203	4300	6503	SO:0001819	synonymous_variant	85301	exon58			GCTGGTGCTGGAC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4965G>A	9.37:g.117068826G>A		Somatic	62	0	0	1478	WXS	Illumina HiSeq	Phase_I	73	31	0.424658	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			G|0.974;A|0.026	0.026	strong		0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	117068826	G	A	117068826	2	1	22	1	0	0	0	0	0	0	0	1	3685	1306	46	2		2	COL27A1	9	117068826	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17806	117068826	24144605	5302	10410										
ORM1	5004	hgsc.bcm.edu	37	chr9	117088618	117088620	+	In_Frame_Del	DEL	AGG	AGG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacgagaaggagaggaaacAggaggagggggaatcctagc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117088618_117088620delAGG	ENST00000259396.8	+	6	665_667	c.587_589delAGG	c.(586-591)caggag>cag	p.E198del		NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	198					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	GAGAGGAAACAGGAGGAGGGGGA	0.581																																					p.196_196del		Atlas-Indel	.											.	ORM1	20	.	0			c.586_588del						PASS	.																																			SO:0001651	inframe_deletion	5004	exon6			.		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.587_589delAGG	9.37:g.117088624_117088626delAGG	ENSP00000259396:p.Glu198del	Somatic	915	0	0		WXS	Illumina HiSeq	Phase_I	979	178	0.181818	NM_000607	B7ZKQ5|Q5T539|Q5U067|Q8TC16	In_Frame_Del	DEL	ENST00000259396.8	37	CCDS6803.1																																																																																			.	.	none		0.581	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			-	117088620	AGG	-	117088618	7	5	22	1	0	1	0	1	0	0	0	0	11267	188	7	0	609	0	ORM1	9	117088618	In_Frame_Del	DEL	AGG	TCGA-G8-6324-01A-11D-2210-10	19792	117088618	24124813	5303	10411										
ORM2	5005	hgsc.bcm.edu	37	chr9	117093856	117093856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcttccagagggaggccGagaacatgttgctcacctgc	11	12	2	2	rs142633392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117093856G>A	ENST00000431067.2	+	4	374	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	113					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	GAGGGAGGCCGAGAACATGTT	0.537													-|||	29	0.00579073	0.0197	0.0029	5008	,	,		18793	0.0		0.001	False		,,,				2504	0.0				p.R113Q	NSCLC(65;867 1308 1814 2391 12508)	Atlas-SNP	.											.	ORM2	13	.	0			c.G338A						PASS	.	G	GLN/ARG	77,4329		1,75,2127	132	116	121		338	-5.9	0	9	dbSNP_134	121	0,8600		0,0,4300	yes	missense	ORM2	NM_000608.2	43	1,75,6427	AA,AG,GG		0.0,1.7476,0.592		113/202	117093856	77,12929	2203	4300	6503	SO:0001583	missense	5005	exon4			GAGGCCGAGAACA		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.338G>A	9.37:g.117093856G>A	ENSP00000394936:p.Arg113Gln	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	216	135	0.625	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	CCDS6804.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	-	0.084	-1.178327	0.01633	0.017476	0.0	ENSG00000228278	ENST00000431067	T	0.08008	3.14	2.95	-5.9	0.02275	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.906400	0.02445	N	0.084964	T	0.03095	0.0091	L	0.37561	1.115	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.20519	T	0.43	4.2497	6.8017	0.23754	0.121:0.0928:0.6382:0.148	.	113	P19652	A1AG2_HUMAN	Q	113	ENSP00000394936:R113Q	ENSP00000394936:R113Q	R	+	2	0	ORM2	116133677	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.988000	0.00319	-4.920000	0.00027	-2.326000	0.00250	CGA	G|0.995;A|0.005	0.005	strong		0.537	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		A	117093856	G	A	117093856	3	1	22	1	0	0	0	0	1	0	0	0	11268	1058	37	1	352	1	ORM2	9	117093856	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5238	117093856	24119575	5304	10412										
ORM2	5005	hgsc.bcm.edu	37	chr9	117094119	117094119	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcagctgacaagccagaGacgaccaaggagcaactggg	13	12	0	2	rs148394636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117094119G>A	ENST00000431067.2	+	5	486	c.450G>A	c.(448-450)gaG>gaA	p.E150E	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	150					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ACAAGCCAGAGACGACCAAGG	0.602													G|||	399	0.0796725	0.2943	0.0144	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0				p.E150E	NSCLC(65;867 1308 1814 2391 12508)	Atlas-SNP	.											.	ORM2	13	.	0			c.G450A						PASS	.	G		955,3451	347.2+/-309.4	112,731,1360	59	63	62		450	-2.4	0	9	dbSNP_134	62	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ORM2	NM_000608.2		112,732,5656	AA,AG,GG		0.0116,21.675,7.3538		150/202	117094119	956,12044	2203	4297	6500	SO:0001819	synonymous_variant	5005	exon5			GCCAGAGACGACC		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.450G>A	9.37:g.117094119G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	182	46	0.252747	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	CCDS6804.1																																																																																			G|0.931;A|0.069	0.069	strong		0.602	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		A	117094119	G	A	117094119	2	1	22	1	0	0	0	0	0	0	0	1	11268	933	33	2		2	ORM2	9	117094119	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	263	117094119	24119312	5305	10413										
ORM2	5005	hgsc.bcm.edu	37	chr9	117094159	117094159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagttctacgaagctctcGactgcttgtgcattcccagg	11	11	2	1	rs148221879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117094159G>A	ENST00000431067.2	+	5	526	c.490G>A	c.(490-492)Gac>Aac	p.D164N	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	164					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	CGAAGCTCTCGACTGCTTGTG	0.572													G|||	14	0.00279553	0.0083	0.0014	5008	,	,		18564	0.0		0.001	False		,,,				2504	0.001				p.D164N	NSCLC(65;867 1308 1814 2391 12508)	Atlas-SNP	.											.	ORM2	13	.	0			c.G490A						PASS	.	G	ASN/ASP	54,4352	53.6+/-89.4	1,52,2150	103	99	100		490	-5.1	0	9	dbSNP_134	100	0,8600		0,0,4300	yes	missense	ORM2	NM_000608.2	23	1,52,6450	AA,AG,GG		0.0,1.2256,0.4152		164/202	117094159	54,12952	2203	4300	6503	SO:0001583	missense	5005	exon5			GCTCTCGACTGCT		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.490G>A	9.37:g.117094159G>A	ENSP00000394936:p.Asp164Asn	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	215	152	0.706977	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	CCDS6804.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	14.61	2.587382	0.46110	0.012256	0.0	ENSG00000228278	ENST00000431067	T	0.07567	3.18	3.83	-5.07	0.02938	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.832830	0.02642	N	0.105407	T	0.03827	0.0108	L	0.36672	1.1	0.09310	N	1	P	0.39748	0.686	B	0.27076	0.076	T	0.35822	-0.9773	10	0.24483	T	0.36	-2.7618	10.116	0.42591	0.3551:0.0:0.6449:0.0	.	164	P19652	A1AG2_HUMAN	N	164	ENSP00000394936:D164N	ENSP00000394936:D164N	D	+	1	0	ORM2	116133980	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.487000	0.02310	-1.079000	0.03113	0.544000	0.68410	GAC	G|0.997;A|0.003	0.003	strong		0.572	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		A	117094159	G	A	117094159	3	1	22	1	0	0	0	0	1	0	0	0	11268	1058	37	1	508	1	ORM2	9	117094159	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40	117094159	24119272	5306	10414										
ORM2	5005	hgsc.bcm.edu	37	chr9	117094200	117094200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatgtcatgtacaccgaCtggaaaaaggtaaacgcaag	10	8	2	1	rs1826232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117094200C>T	ENST00000431067.2	+	5	567	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	177					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	TGTACACCGACTGGAAAAAGG	0.567													T|||	747	0.149161	0.4894	0.0403	5008	,	,		18828	0.0605		0.002	False		,,,				2504	0.0092				p.D177D	NSCLC(65;867 1308 1814 2391 12508)	Atlas-SNP	.											ORM2,face,carcinoma,-2,1	ORM2	13	1	0			c.C531T						PASS	.	T		1790,2616	641.6+/-397.5	383,1024,796	92	92	92		531	-4.5	0	9	dbSNP_92	92	20,8580	818.0+/-406.9	0,20,4280	no	coding-synonymous	ORM2	NM_000608.2		383,1044,5076	TT,TC,CC		0.2326,40.6264,13.9167		177/202	117094200	1810,11196	2203	4300	6503	SO:0001819	synonymous_variant	5005	exon5			CACCGACTGGAAA		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.531C>T	9.37:g.117094200C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	160	49	0.30625	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	CCDS6804.1																																																																																			C|0.873;T|0.127	0.127	strong		0.567	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		T	117094200	C	T	117094200	2	4	22	1	0	0	0	0	0	0	0	1	11268	564	20	2		2	ORM2	9	117094200	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41	117094200	24119231	5307	10415										
ORM2	5005	hgsc.bcm.edu	37	chr9	117095395	117095397	+	In_Frame_Del	DEL	AGG	AGG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacgagaaggagaggaaacAggaggagggggaatcctagc					rs530796283|rs537714275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117095395_117095397delAGG	ENST00000431067.2	+	6	623_625	c.587_589delAGG	c.(586-591)caggag>cag	p.E198del		NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	198					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	GAGAGGAAACAGGAGGAGGGGGA	0.581														13	0.00259585	0.0083	0.0014	5008	,	,		22543	0.0		0.001	False		,,,				2504	0.0				p.196_196del	NSCLC(65;867 1308 1814 2391 12508)	Atlas-Indel	.											.	ORM2	13	.	0			c.586_588del						PASS	.			39,3131		1,37,1547						1.8	0			15	1,5925		0,1,2962	no	coding	ORM2	NM_000608.2		1,38,4509	A1A1,A1R,RR		0.0169,1.2303,0.4398				40,9056				SO:0001651	inframe_deletion	5005	exon6			.		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.587_589delAGG	9.37:g.117095401_117095403delAGG	ENSP00000394936:p.Glu198del	Somatic	871	0	0		WXS	Illumina HiSeq	Phase_I	888	290	0.326577	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	In_Frame_Del	DEL	ENST00000431067.2	37	CCDS6804.1																																																																																			.	.	none		0.581	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		-	117095397	AGG	-	117095395	7	5	22	1	0	1	0	1	0	0	0	0	11268	188	7	0	609	0	ORM2	9	117095395	In_Frame_Del	DEL	AGG	TCGA-G8-6324-01A-11D-2210-10	1195	117095395	24118036	5308	10416										
AKNA	80709	hgsc.bcm.edu	37	chr9	117099574	117099574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctgaggtaggtcctgcAggcgcatagtacctgaggag	17	8	0	2	rs148856699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117099574A>G	ENST00000307564.4	-	22	4241	c.4080T>C	c.(4078-4080)ccT>ccC	p.P1360P	AKNA_ENST00000223791.3_Silent_p.P820P|AKNA_ENST00000374075.5_Silent_p.P1279P|AKNA_ENST00000374079.4_Silent_p.P305P|AKNA_ENST00000374088.3_Silent_p.P1360P|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1360					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TAGGTCCTGCAGGCGCATAGT	0.652													G|||	29	0.00579073	0.0197	0.0029	5008	,	,		10995	0.0		0.001	False		,,,				2504	0.0				p.P1360P		Atlas-SNP	.											.	AKNA	119	.	0			c.T4080C						PASS	.	G		77,4329	810.3+/-416.0	1,75,2127	41	44	43		4080	-5.6	0	9	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	AKNA	NM_030767.4		1,75,6426	GG,GA,AA		0.0,1.7476,0.5921		1360/1440	117099574	77,12927	2203	4299	6502	SO:0001819	synonymous_variant	80709	exon22			TCCTGCAGGCGCA	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4080T>C	9.37:g.117099574A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	147	99	0.673469	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	G	8.193	0.796449	0.16327	0.017476	0.0	ENSG00000106948	ENST00000320310	.	.	.	5.0	-5.55	0.02536	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.21822	N	0.999529	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-1.4841	3.3389	0.07111	0.561:0.1076:0.2123:0.119	.	.	.	.	P	371	.	.	L	-	2	0	AKNA	116139395	0.000000	0.05858	0.014000	0.15608	0.849000	0.48306	-0.506000	0.06359	-1.037000	0.03283	-0.349000	0.07799	CTG	A|0.995;G|0.005	0.005	strong		0.652	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		G	117099574	A	G	117099574	2	3	22	1	0	0	0	0	0	0	0	1	463	175	7	3		3	AKNA	9	117099574	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4179	117099574	24113857	5309	10417										
AKNA	80709	hgsc.bcm.edu	37	chr9	117103900	117103900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggggcgctgttgccagaTaccacagtccggggggtggg	19	10	0	1	rs2787344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117103900T>C	ENST00000307564.4	-	21	4141	c.3980A>G	c.(3979-3981)tAt>tGt	p.Y1327C	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.Y1246C|AKNA_ENST00000374079.4_Missense_Mutation_p.Y272C|AKNA_ENST00000374088.3_Missense_Mutation_p.Y1327C|AKNA_ENST00000223791.3_Missense_Mutation_p.Y787C	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1327			Y -> C (in dbSNP:rs2787344).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGTTGCCAGATACCACAGTCC	0.622													T|||	395	0.0788738	0.2897	0.0173	5008	,	,		15911	0.0		0.0	False		,,,				2504	0.0				p.Y1327C		Atlas-SNP	.											.	AKNA	119	.	0			c.A3980G						PASS	.	T	CYS/TYR	981,3425	369.1+/-318.9	102,777,1324	56	62	60		3980	5.5	1	9	dbSNP_100	60	6,8594	4.3+/-15.6	0,6,4294	yes	missense	AKNA	NM_030767.4	194	102,783,5618	CC,CT,TT		0.0698,22.2651,7.5888	probably-damaging	1327/1440	117103900	987,12019	2203	4300	6503	SO:0001583	missense	80709	exon21			GCCAGATACCACA	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3980A>G	9.37:g.117103900T>C	ENSP00000303769:p.Tyr1327Cys	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	126	40	0.31746	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	141|141	0.06456043956043957|0.06456043956043957	135|135	0.27439024390243905|0.27439024390243905	6|6	0.016574585635359115|0.016574585635359115	0|0	0.0|0.0	0|0	0.0|0.0	T|T	16.55|16.55	3.154873|3.154873	0.57259|0.57259	0.222651|0.222651	6.98E-4|6.98E-4	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.39592	.|1.99;1.07;1.99;1.73;1.97	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.53938	.|D	.|0.000059	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.36672|0.36672	1.1|1.1	0.27590|0.27590	P|P	0.9492969|0.9492969	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.10567|0.10567	-1.0624|-1.0624	5|9	0.51188|0.72032	T|D	0.08|0.01	-18.4356|-18.4356	12.2902|12.2902	0.54815|0.54815	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs2787344;rs2787344|rs2787344;rs2787344	.|1327;1246	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	V|C	338|1327;272;1327;787;1246	.|ENSP00000303769:Y1327C;ENSP00000363192:Y272C;ENSP00000363201:Y1327C;ENSP00000223791:Y787C;ENSP00000363188:Y1246C	ENSP00000314538:I338V|ENSP00000223791:Y787C	I|Y	-|-	1|2	0|0	AKNA|AKNA	116143721|116143721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.450000|0.450000	0.32258|0.32258	4.341000|4.341000	0.59335|0.59335	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	ATC|TAT	T|0.919;C|0.081	0.081	strong		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117103900	T	C	117103900	3	2	22	1	0	0	0	0	1	0	0	0	463	1406	49	2	347	2	AKNA	9	117103900	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4326	117103900	24109531	5310	10418										
AKNA	80709	hgsc.bcm.edu	37	chr9	117104368	117104368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacactgaagggtatcagcGggaggcggtcccagtgggtc	18	9	1	1	rs73548990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117104368G>A	ENST00000307564.4	-	20	3956	c.3795C>T	c.(3793-3795)ccC>ccT	p.P1265P	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Silent_p.P1184P|AKNA_ENST00000374079.4_Silent_p.P210P|AKNA_ENST00000374088.3_Silent_p.P1265P|AKNA_ENST00000223791.3_Silent_p.P725P	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1265					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGTATCAGCGGGAGGCGGTC	0.567													G|||	130	0.0259585	0.093	0.0072	5008	,	,		18549	0.0		0.002	False		,,,				2504	0.0				p.P1265P		Atlas-SNP	.											.	AKNA	119	.	0			c.C3795T						PASS	.	G		303,4103	164.0+/-195.7	7,289,1907	52	51	51		3795	1.6	0	9	dbSNP_130	51	1,8599		0,1,4299	no	coding-synonymous	AKNA	NM_030767.4		7,290,6206	AA,AG,GG		0.0116,6.877,2.3374		1265/1440	117104368	304,12702	2203	4300	6503	SO:0001819	synonymous_variant	80709	exon20			ATCAGCGGGAGGC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3795C>T	9.37:g.117104368G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	50	34	0.68	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1	56	0.02564102564102564	51	0.10365853658536585	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	4.086	0.013849	0.07959	0.06877	1.16E-4	ENSG00000106948	ENST00000320310	.	.	.	4.95	1.61	0.23674	.	0.482521	0.19304	N	0.117578	T	0.01189	0.0039	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.03130	-1.1069	6	0.87932	D	0	-5.6524	5.4261	0.16427	0.1935:0.0:0.6201:0.1863	.	.	.	.	L	276	.	ENSP00000314538:P276L	P	-	2	0	AKNA	116144189	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.483000	0.02318	0.275000	0.22094	-0.244000	0.11960	CCG	G|0.978;A|0.022	0.022	strong		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117104368	G	A	117104368	2	1	22	1	0	0	0	0	0	0	0	1	463	1103	39	1		1	AKNA	9	117104368	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	468	117104368	24109063	5311	10419										
AKNA	80709	hgsc.bcm.edu	37	chr9	117110112	117110112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgggctgccctggagtggcTggtgcaggctgtcttccagc	16	12	1	0	rs1265891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117110112T>C	ENST00000307564.4	-	16	3451	c.3290A>G	c.(3289-3291)cAg>cGg	p.Q1097R	AKNA_ENST00000223791.3_Missense_Mutation_p.Q557R|AKNA_ENST00000374075.5_Missense_Mutation_p.Q1016R|AKNA_ENST00000374079.4_Missense_Mutation_p.Q42R|AKNA_ENST00000374088.3_Missense_Mutation_p.Q1097R|AKNA_ENST00000492875.1_5'Flank	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1097			Q -> R (in dbSNP:rs1265891).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTGGAGTGGCTGGTGCAGGCT	0.667													C|||	1051	0.209864	0.6891	0.0605	5008	,	,		14024	0.0526		0.003	False		,,,				2504	0.0429				p.Q1097R		Atlas-SNP	.											.	AKNA	119	.	0			c.A3290G						PASS	.	C	ARG/GLN	2091,2139		503,1085,527	15	15	15		3290	-3.5	0	9	dbSNP_87	15	21,8365		0,21,4172	no	missense	AKNA	NM_030767.4	43	503,1106,4699	CC,CT,TT		0.2504,49.4326,16.7406	benign	1097/1440	117110112	2112,10504	2115	4193	6308	SO:0001583	missense	80709	exon16			AGTGGCTGGTGCA	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3290A>G	9.37:g.117110112T>C	ENSP00000303769:p.Gln1097Arg	Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	398	0.18223443223443223	337	0.6849593495934959	27	0.07458563535911603	32	0.055944055944055944	2	0.002638522427440633	C	6.830	0.522364	0.13066	0.494326	0.002504	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.17370	2.74;2.28;2.74;2.51;2.74	5.44	-3.52	0.04682	.	1.042290	0.07587	N	0.921372	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40459	-0.9562	9	0.02654	T	1	-2.0827	6.3932	0.21599	0.0:0.2694:0.3256:0.405	rs1265891;rs52814197;rs1265891	1097;1016	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	R	1097;42;109;1097;557;1016	ENSP00000303769:Q1097R;ENSP00000363192:Q42R;ENSP00000363201:Q1097R;ENSP00000223791:Q557R;ENSP00000363188:Q1016R	ENSP00000223791:Q557R	Q	-	2	0	AKNA	116149933	0.001000	0.12720	0.019000	0.16419	0.639000	0.38242	-0.315000	0.08081	-0.930000	0.03752	-0.726000	0.03593	CAG	T|0.754;C|0.246	0.246	strong		0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117110112	T	C	117110112	3	2	22	1	0	0	0	0	1	0	0	0	463	1580	55	3	1057	3	AKNA	9	117110112	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5744	117110112	24103319	5312	10420										
AKNA	80709	hgsc.bcm.edu	37	chr9	117129921	117129921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctccggaagccaccccaGggtgggcatgctggtaagcg	15	12	1	0	rs62640865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117129921G>C	ENST00000307564.4	-	6	1791	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	AKNA_ENST00000223791.3_Missense_Mutation_p.L4V|AKNA_ENST00000374075.5_Missense_Mutation_p.L463V|AKNA_ENST00000374088.3_Missense_Mutation_p.L544V|AKNA_ENST00000312033.3_Missense_Mutation_p.L544V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	544					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGCCACCCCAGGGTGGGCATG	0.607													G|||	180	0.0359425	0.1324	0.0072	5008	,	,		20087	0.0		0.0	False		,,,				2504	0.0				p.L544V		Atlas-SNP	.											.	AKNA	119	.	0			c.C1630G						PASS	.	G	VAL/LEU	445,3961	213.8+/-233.3	20,405,1778	50	50	50		1630	3.2	0	9	dbSNP_129	50	3,8597	2.2+/-6.3	0,3,4297	yes	missense	AKNA	NM_030767.4	32	20,408,6075	CC,CG,GG		0.0349,10.0999,3.4446	benign	544/1440	117129921	448,12558	2203	4300	6503	SO:0001583	missense	80709	exon6			ACCCCAGGGTGGG	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1630C>G	9.37:g.117129921G>C	ENSP00000303769:p.Leu544Val	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	71	0.03250915750915751	68	0.13821138211382114	3	0.008287292817679558	0	0.0	0	0.0	G	8.010	0.757277	0.15846	0.100999	3.49E-4	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.30714	2.72;2.72;2.46;2.72;1.52	5.05	3.17	0.36434	.	0.310451	0.23710	N	0.045338	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.17268	0.005;0.021	B;B	0.15484	0.004;0.013	T	0.21042	-1.0257	10	0.30078	T	0.28	-0.342	6.9494	0.24536	0.0931:0.1751:0.7318:0.0	rs62640865	544;463	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	544;385;544;4;463;544	ENSP00000303769:L544V;ENSP00000363201:L544V;ENSP00000223791:L4V;ENSP00000363188:L463V;ENSP00000309222:L544V	ENSP00000223791:L4V	L	-	1	2	AKNA	116169742	0.004000	0.15560	0.002000	0.10522	0.008000	0.06430	1.056000	0.30480	0.802000	0.34089	0.655000	0.94253	CTG	G|0.957;C|0.043	0.043	strong		0.607	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117129921	G	C	117129921	3	2	22	1	0	0	0	0	1	0	0	0	463	991	35	4	2757	4	AKNA	9	117129921	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19809	117129921	24083510	5313	10421										
AKNA	80709	hgsc.bcm.edu	37	chr9	117130838	117130838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccattcccgtgtggatgCtgtggttgggctggggtggg	19	8	0	0	rs138188658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117130838C>T	ENST00000307564.4	-	5	1615	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.S404N|AKNA_ENST00000374088.3_Missense_Mutation_p.S485N|AKNA_ENST00000312033.3_Missense_Mutation_p.S485N	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	485					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGTGTGGATGCTGTGGTTGGG	0.652													C|||	18	0.00359425	0.0113	0.0029	5008	,	,		18213	0.0		0.001	False		,,,				2504	0.0				p.S485N		Atlas-SNP	.											.	AKNA	119	.	0			c.G1454A						PASS	.	C	ASN/SER	61,4345	56.8+/-93.2	0,61,2142	80	54	63		1454	4	0.6	9	dbSNP_134	63	0,8600		0,0,4300	yes	missense	AKNA	NM_030767.4	46	0,61,6442	TT,TC,CC		0.0,1.3845,0.469	probably-damaging	485/1440	117130838	61,12945	2203	4300	6503	SO:0001583	missense	80709	exon5			TGGATGCTGTGGT	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1454G>A	9.37:g.117130838C>T	ENSP00000303769:p.Ser485Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	120	66	0.55	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	5	0.0022893772893772895	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	C	6.631	0.484937	0.12641	0.013845	0.0	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.33654	2.63;2.63;2.63;1.4	4.87	3.97	0.46021	.	0.575422	0.18059	N	0.153006	T	0.23886	0.0578	L	0.56769	1.78	0.09310	N	0.999995	B;B	0.30937	0.079;0.301	B;B	0.27715	0.037;0.082	T	0.15780	-1.0425	10	0.41790	T	0.15	-10.4751	7.9366	0.29933	0.1595:0.755:0.0:0.0855	.	485;404	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	N	485;326;485;404;485	ENSP00000303769:S485N;ENSP00000363201:S485N;ENSP00000363188:S404N;ENSP00000309222:S485N	ENSP00000303769:S485N	S	-	2	0	AKNA	116170659	0.924000	0.31332	0.604000	0.28916	0.007000	0.05969	0.647000	0.24812	1.279000	0.44446	-0.140000	0.14226	AGC	C|0.996;T|0.004	0.004	strong		0.652	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117130838	C	T	117130838	3	4	22	1	0	0	0	0	1	0	0	0	463	797	28	2	2937	2	AKNA	9	117130838	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	917	117130838	24082593	5314	10422										
TNFSF15	9966	hgsc.bcm.edu	37	chr9	117568219	117568219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgctcctggccttgggcCtgcagctgccgtgctctggc	14	15	1	0	rs150191342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117568219C>T	ENST00000374045.4	-	1	187	c.74G>A	c.(73-75)aGg>aAg	p.R25K		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	25					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGCCTTGGGCCTGCAGCTGCC	0.627													C|||	20	0.00399361	0.0151	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0				p.R25K		Atlas-SNP	.											.	TNFSF15	23	.	0			c.G74A						PASS	.	C	LYS/ARG	54,4352	53.6+/-89.4	1,52,2150	64	58	60		74	3.2	0.5	9	dbSNP_134	60	0,8600		0,0,4300	yes	missense	TNFSF15	NM_005118.3	26	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	25/252	117568219	54,12952	2203	4300	6503	SO:0001583	missense	9966	exon1			TTGGGCCTGCAGC	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.74G>A	9.37:g.117568219C>T	ENSP00000363157:p.Arg25Lys	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	108	75	0.694444	NM_005118	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	CCDS6809.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.31	1.898972	0.33535	0.012256	0.0	ENSG00000181634	ENST00000374045	T	0.28069	1.63	5.11	3.23	0.37069	.	2.547720	0.01464	N	0.015995	T	0.14700	0.0355	N	0.24115	0.695	0.48696	D	0.999692	B	0.20261	0.043	B	0.19946	0.027	T	0.44862	-0.9300	10	0.02654	T	1	-17.7812	6.6172	0.22782	0.0:0.7011:0.1969:0.102	.	25	O95150	TNF15_HUMAN	K	25	ENSP00000363157:R25K	ENSP00000363157:R25K	R	-	2	0	TNFSF15	116608040	0.122000	0.22280	0.461000	0.27105	0.699000	0.40488	0.565000	0.23578	0.616000	0.30141	0.484000	0.47621	AGG	C|0.996;T|0.004	0.004	strong		0.627	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		T	117568219	C	T	117568219	3	4	22	1	0	0	0	0	1	0	0	0	16305	681	24	2	697	2	TNFSF15	9	117568219	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	437381	117568219	23645212	5315	10423										
TNFSF8	944	hgsc.bcm.edu	37	chr9	117668142	117668142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgacttcttgaatggagcCcttttcaggatacataagag	9	8	2	3	rs3181195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117668142C>T	ENST00000223795.2	-	3	389	c.276G>A	c.(274-276)agG>agA	p.R92R	TNFSF8_ENST00000474301.1_5'Flank	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	92					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TGAATGGAGCCCTTTTCAGGA	0.418													C|||	1648	0.329073	0.1974	0.5	5008	,	,		13628	0.245		0.4016	False		,,,				2504	0.3978				p.R92R		Atlas-SNP	.											TNFSF8,colon,carcinoma,-1,1	TNFSF8	34	1	0			c.G276A						PASS	.	C		1084,3322	394.7+/-329.4	135,814,1254	171	173	172		276	1.7	0.1	9	dbSNP_105	172	3491,5109	510.8+/-377.6	663,2165,1472	no	coding-synonymous	TNFSF8	NM_001244.2		798,2979,2726	TT,TC,CC		40.593,24.6028,35.1761		92/235	117668142	4575,8431	2203	4300	6503	SO:0001819	synonymous_variant	944	exon3			TGGAGCCCTTTTC	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.276G>A	9.37:g.117668142C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	163	51	0.312883	NM_001252290	O43404	Silent	SNP	ENST00000223795.2	37	CCDS6810.1																																																																																			C|0.661;T|0.339	0.339	strong		0.418	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			T	117668142	C	T	117668142	2	4	22	1	0	0	0	0	0	0	0	1	16308	622	22	2		2	TNFSF8	9	117668142	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99923	117668142	23545289	5316	10424										
TNC	3371	hgsc.bcm.edu	37	chr9	117803271	117803271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctcaaagcccttcatggCgatgatgctgacaaggtact	9	11	2	2	rs2274750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117803271C>T	ENST00000350763.4	-	19	5752	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	TNC_ENST00000340094.3_Missense_Mutation_p.A1417T|TNC_ENST00000537320.1_Missense_Mutation_p.A1144T|TNC_ENST00000346706.3_Missense_Mutation_p.A1235T|TNC_ENST00000542877.1_Missense_Mutation_p.A1418T|TNC_ENST00000345230.3_Missense_Mutation_p.A1144T|TNC_ENST00000535648.1_Missense_Mutation_p.A1326T|TNC_ENST00000341037.4_Missense_Mutation_p.A1599T|TNC_ENST00000423613.2_Missense_Mutation_p.A1508T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs2274750).		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCCTTCATGGCGATGATGCTG	0.507													C|||	411	0.0820687	0.0983	0.1527	5008	,	,		18369	0.1151		0.0318	False		,,,				2504	0.0276				p.A1781T		Atlas-SNP	.											TNC,NS,carcinoma,+2,1	TNC	282	1	0			c.G5341A	GRCh37	CM067722	TNC	M	rs2274750	PASS	.	C	THR/ALA	400,4006	200.4+/-223.7	14,372,1817	198	166	177		5341	4.1	0.9	9	dbSNP_100	177	266,8334	102.3+/-163.5	4,258,4038	yes	missense	TNC	NM_002160.3	58	18,630,5855	TT,TC,CC		3.093,9.0785,5.1207	possibly-damaging	1781/2202	117803271	666,12340	2203	4300	6503	SO:0001583	missense	3371	exon19			TCATGGCGATGAT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5341G>A	9.37:g.117803271C>T	ENSP00000265131:p.Ala1781Thr	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	210	62	0.295238	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	174|174	0.07967032967032966|0.07967032967032966	48|48	0.0975609756097561|0.0975609756097561	44|44	0.12154696132596685|0.12154696132596685	56|56	0.0979020979020979|0.0979020979020979	26|26	0.03430079155672823|0.03430079155672823	C|C	22.7|22.7	4.323493|4.323493	0.81580|0.81580	0.090785|0.090785	0.03093|0.03093	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27|.	6.08|6.08	4.08|4.08	0.47627|0.47627	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.221485|.	0.47455|.	D|.	0.000227|.	T|T	0.04363|0.04363	0.0120|0.0120	M|M	0.89287|0.89287	3.02|3.02	0.53005|0.53005	P|P	3.399999999997849E-5|3.399999999997849E-5	D;P|.	0.61697|.	0.99;0.949|.	P;P|.	0.61132|.	0.884;0.743|.	T|T	0.58869|0.58869	-0.7560|-0.7560	9|4	0.72032|.	D|.	0.01|.	.|.	12.6089|12.6089	0.56540|0.56540	0.5553:0.4447:0.0:0.0|0.5553:0.4447:0.0:0.0	rs2274750;rs52811748;rs2274750|rs2274750;rs52811748;rs2274750	1508;1781|.	E9PC84;P24821|.	.;TENA_HUMAN|.	T|H	1417;1326;1235;1144;1781;1599;1508;1144;1418|343	ENSP00000344400:A1417T;ENSP00000438152:A1326T;ENSP00000344555:A1235T;ENSP00000345861:A1144T;ENSP00000265131:A1781T;ENSP00000339553:A1599T;ENSP00000411406:A1508T;ENSP00000443478:A1144T;ENSP00000442242:A1418T|.	ENSP00000344400:A1417T|.	A|R	-|-	1|2	0|0	TNC|TNC	116843092|116843092	0.997000|0.997000	0.39634|0.39634	0.929000|0.929000	0.37066|0.37066	0.752000|0.752000	0.42762|0.42762	2.473000|2.473000	0.45145|0.45145	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	GCC|CGC	C|0.937;T|0.063	0.063	strong		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117803271	C	T	117803271	3	4	22	1	0	0	0	0	1	0	0	0	16267	768	27	1	1304	1	TNC	9	117803271	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	135129	117803271	23410160	5317	10425										
TNC	3371	hgsc.bcm.edu	37	chr9	117804544	117804544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaagctctccacttgggcTgtgggtgccctccagctgac	13	14	1	1	rs1061495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117804544T>C	ENST00000350763.4	-	18	5613	c.5202A>G	c.(5200-5202)acA>acG	p.T1734T	TNC_ENST00000535648.1_Silent_p.T1279T|TNC_ENST00000341037.4_Silent_p.T1552T|TNC_ENST00000423613.2_Silent_p.T1461T|TNC_ENST00000537320.1_Silent_p.T1097T|TNC_ENST00000542877.1_Silent_p.T1371T|TNC_ENST00000340094.3_Silent_p.T1370T|TNC_ENST00000346706.3_Silent_p.T1188T|TNC_ENST00000345230.3_Silent_p.T1097T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1734	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCACTTGGGCTGTGGGTGCCC	0.517													t|||	1417	0.282947	0.528	0.2795	5008	,	,		17872	0.1478		0.2575	False		,,,				2504	0.1196				p.T1734T		Atlas-SNP	.											.	TNC	282	.	0			c.A5202G						PASS	.	T		2170,2236	585.4+/-386.2	545,1080,578	102	98	100		5202	-7.2	0.6	9	dbSNP_86	100	2197,6403	374.9+/-337.6	295,1607,2398	no	coding-synonymous	TNC	NM_002160.3		840,2687,2976	CC,CT,TT		25.5465,49.251,33.5768		1734/2202	117804544	4367,8639	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon18			TTGGGCTGTGGGT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5202A>G	9.37:g.117804544T>C		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	94	25	0.265957	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	623	0.28525641025641024	262	0.532520325203252	95	0.26243093922651933	68	0.11888111888111888	198	0.2612137203166227	t	0.947	-0.707721	0.03230	0.49251	0.255465	ENSG00000041982	ENST00000544972	.	.	.	6.08	-7.17	0.01511	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.46289	-0.9202	3	.	.	.	.	2.9726	0.05927	0.1397:0.4085:0.1194:0.3325	rs1061495;rs3202589;rs17435046;rs1061495	.	.	.	G	297	.	.	S	-	1	0	TNC	116844365	0.056000	0.20664	0.591000	0.28745	0.159000	0.22180	0.132000	0.15891	-1.139000	0.02881	-2.708000	0.00134	AGC	T|0.688;C|0.312	0.312	strong		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117804544	T	C	117804544	2	2	22	1	0	0	0	0	0	0	0	1	16267	1567	55	3		3	TNC	9	117804544	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1273	117804544	23408887	5318	10426										
TNC	3371	hgsc.bcm.edu	37	chr9	117810651	117810651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaagctccagcttcctctgGgttcctgaaagtgtgaattc	9	11	1	2	rs146504512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117810651G>A	ENST00000350763.4	-	16	5151	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	TNC_ENST00000341037.4_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Silent_p.T1216T|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1580	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCTTCCTCTGGGTTCCTGAAA	0.527													G|||	26	0.00519169	0.0144	0.0072	5008	,	,		18220	0.0		0.001	False		,,,				2504	0.001				p.T1580T		Atlas-SNP	.											.	TNC	282	.	0			c.C4740T						PASS	.	G		39,4367	43.8+/-77.6	0,39,2164	89	82	84		4740	3.1	1	9	dbSNP_134	84	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	TNC	NM_002160.3		0,47,6456	AA,AG,GG		0.093,0.8852,0.3614		1580/2202	117810651	47,12959	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon16			CCTCTGGGTTCCT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4740C>T	9.37:g.117810651G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																			G|0.996;A|0.004	0.004	strong		0.527	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117810651	G	A	117810651	2	1	22	1	0	0	0	0	0	0	0	1	16267	1219	43	2		2	TNC	9	117810651	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6107	117810651	23402780	5319	10427										
TNC	3371	hgsc.bcm.edu	37	chr9	117846580	117846580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaccaggctccagctccTggatgatggtggacgtctgg	13	13	1	1	rs1061494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117846580T>C	ENST00000350763.4	-	4	2450	c.2039A>G	c.(2038-2040)cAg>cGg	p.Q680R	TNC_ENST00000535648.1_Missense_Mutation_p.Q680R|TNC_ENST00000341037.4_Missense_Mutation_p.Q680R|TNC_ENST00000423613.2_Missense_Mutation_p.Q680R|TNC_ENST00000537320.1_Missense_Mutation_p.Q680R|TNC_ENST00000542877.1_Missense_Mutation_p.Q680R|TNC_ENST00000340094.3_Missense_Mutation_p.Q680R|TNC_ENST00000346706.3_Missense_Mutation_p.Q680R|TNC_ENST00000345230.3_Missense_Mutation_p.Q680R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	680	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Q -> R (in dbSNP:rs1061494). {ECO:0000269|PubMed:1707164}.		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.Q680R(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTCCAGCTCCTGGATGATGGT	0.572													C|||	2252	0.449681	0.6014	0.5519	5008	,	,		19356	0.2857		0.4423	False		,,,				2504	0.3487				p.Q680R		Atlas-SNP	.											TNC,NS,carcinoma,0,1	TNC	282	1	1	Substitution - Missense(1)	stomach(1)	c.A2039G						PASS	.	C	ARG/GLN	2489,1917	547.8+/-377.4	707,1075,421	98	93	95		2039	1	1	9	dbSNP_86	95	3764,4836	615.5+/-396.4	833,2098,1369	yes	missense	TNC	NM_002160.3	43	1540,3173,1790	CC,CT,TT		43.7674,43.5089,48.0778	benign	680/2202	117846580	6253,6753	2203	4300	6503	SO:0001583	missense	3371	exon4			AGCTCCTGGATGA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2039A>G	9.37:g.117846580T>C	ENSP00000265131:p.Gln680Arg	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	970	0.4441391941391941	288	0.5853658536585366	188	0.5193370165745856	153	0.2674825174825175	341	0.449868073878628	C	2.031	-0.422463	0.04734	0.564911	0.437674	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.93	1.04	0.20106	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.436137	0.23700	N	0.045439	T	0.00012	0.0000	N	0.02685	-0.53	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.47071	-0.9145	9	0.02654	T	1	.	12.0326	0.53406	0.0:0.608:0.0:0.392	rs1061494;rs1757112;rs3202586;rs16932200;rs59848703;rs1061494	680;680	E9PC84;P24821	.;TENA_HUMAN	R	680	ENSP00000344400:Q680R;ENSP00000438152:Q680R;ENSP00000344555:Q680R;ENSP00000345861:Q680R;ENSP00000265131:Q680R;ENSP00000339553:Q680R;ENSP00000411406:Q680R;ENSP00000443478:Q680R;ENSP00000442242:Q680R	ENSP00000344400:Q680R	Q	-	2	0	TNC	116886401	0.000000	0.05858	0.977000	0.42913	0.958000	0.62258	-0.363000	0.07593	-0.273000	0.09246	-0.119000	0.15052	CAG	T|0.531;C|0.469	0.469	strong		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117846580	T	C	117846580	3	2	22	1	0	0	0	0	1	0	0	0	16267	1580	55	3	4666	3	TNC	9	117846580	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35929	117846580	23366851	5320	10428										
TNC	3371	hgsc.bcm.edu	37	chr9	117848368	117848368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cataaatccttcatggcacaCgcactgcccattcacacagc	5	16	2	0	rs61729478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117848368C>T	ENST00000350763.4	-	3	2053	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	TNC_ENST00000341037.4_Missense_Mutation_p.V548M|TNC_ENST00000535648.1_Missense_Mutation_p.V548M|TNC_ENST00000542877.1_Missense_Mutation_p.V548M|TNC_ENST00000340094.3_Missense_Mutation_p.V548M|TNC_ENST00000537320.1_Missense_Mutation_p.V548M|TNC_ENST00000423613.2_Missense_Mutation_p.V548M|TNC_ENST00000346706.3_Missense_Mutation_p.V548M|TNC_ENST00000345230.3_Missense_Mutation_p.V548M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	548	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATGGCACACGCACTGCCCA	0.587													C|||	32	0.00638978	0.0038	0.0072	5008	,	,		21065	0.0		0.0119	False		,,,				2504	0.0102				p.V548M		Atlas-SNP	.											.	TNC	282	.	0			c.G1642A						PASS	.	C	MET/VAL	41,4365	44.6+/-78.6	0,41,2162	106	76	86		1642	4.1	0.9	9	dbSNP_129	86	123,8477	63.1+/-125.2	1,121,4178	yes	missense	TNC	NM_002160.3	21	1,162,6340	TT,TC,CC		1.4302,0.9305,1.261	benign	548/2202	117848368	164,12842	2203	4300	6503	SO:0001583	missense	3371	exon3			GGCACACGCACTG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1642G>A	9.37:g.117848368C>T	ENSP00000265131:p.Val548Met	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	165	108	0.654545	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	15	0.006868131868131868	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	9.105	1.005034	0.19199	0.009305	0.014302	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.95	4.13	0.48395	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.111211	0.64402	N	0.000008	T	0.16471	0.0396	M	0.79614	2.46	0.51767	D	0.999938	D;P	0.55385	0.971;0.52	P;B	0.49953	0.627;0.223	T	0.01245	-1.1407	10	0.59425	D	0.04	.	12.6844	0.56940	0.0:0.8672:0.0:0.1328	.	548;548	E9PC84;P24821	.;TENA_HUMAN	M	548	ENSP00000344400:V548M;ENSP00000438152:V548M;ENSP00000344555:V548M;ENSP00000345861:V548M;ENSP00000265131:V548M;ENSP00000339553:V548M;ENSP00000411406:V548M;ENSP00000443478:V548M;ENSP00000442242:V548M	ENSP00000344400:V548M	V	-	1	0	TNC	116888189	0.008000	0.16893	0.874000	0.34290	0.117000	0.20001	0.248000	0.18198	0.867000	0.35654	-0.222000	0.12452	GTG	C|0.990;T|0.010	0.010	strong		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117848368	C	T	117848368	3	4	22	1	0	0	0	0	1	0	0	0	16267	536	19	1	5067	1	TNC	9	117848368	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1788	117848368	23365063	5321	10429										
TNC	3371	hgsc.bcm.edu	37	chr9	117849314	117849314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacagatgcagactccattTacgcacttgccctggtcatt	7	12	1	2	rs2992147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117849314T>C	ENST00000350763.4	-	3	1107	c.696A>G	c.(694-696)gtA>gtG	p.V232V	TNC_ENST00000340094.3_Silent_p.V232V|TNC_ENST00000537320.1_Silent_p.V232V|TNC_ENST00000346706.3_Silent_p.V232V|TNC_ENST00000542877.1_Silent_p.V232V|TNC_ENST00000345230.3_Silent_p.V232V|TNC_ENST00000535648.1_Silent_p.V232V|TNC_ENST00000341037.4_Silent_p.V232V|TNC_ENST00000423613.2_Silent_p.V232V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	232	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGACTCCATTTACGCACTTGC	0.602													C|||	2255	0.45028	0.6021	0.5533	5008	,	,		21340	0.2857		0.4423	False		,,,				2504	0.3497				p.V232V		Atlas-SNP	.											.	TNC	282	.	0			c.A696G						PASS	.	C		2489,1917	547.8+/-377.4	707,1075,421	93	76	81		696	0.7	0	9	dbSNP_101	81	3766,4834	614.8+/-396.3	834,2098,1368	no	coding-synonymous	TNC	NM_002160.3		1541,3173,1789	CC,CT,TT		43.7907,43.5089,48.0932		232/2202	117849314	6255,6751	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon3			TCCATTTACGCAC		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.696A>G	9.37:g.117849314T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	130	130	1	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																			T|0.532;C|0.468	0.468	strong		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117849314	T	C	117849314	2	2	22	1	0	0	0	0	0	0	0	1	16267	1741	61	2		2	TNC	9	117849314	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	946	117849314	23364117	5322	10430										
TNC	3371	hgsc.bcm.edu	37	chr9	117853022	117853022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatctggttttccccatcCactgtgtgctcctgaaagct	7	13	1	1	rs944510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:117853022C>T	ENST00000350763.4	-	2	687	c.276G>A	c.(274-276)gtG>gtA	p.V92V	TNC_ENST00000341037.4_Silent_p.V92V|TNC_ENST00000535648.1_Silent_p.V92V|TNC_ENST00000542877.1_Silent_p.V92V|TNC_ENST00000340094.3_Silent_p.V92V|TNC_ENST00000537320.1_Silent_p.V92V|TNC_ENST00000423613.2_Silent_p.V92V|TNC_ENST00000346706.3_Silent_p.V92V|TNC_ENST00000345230.3_Silent_p.V92V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	92					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.V92V(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTCCCCATCCACTGTGTGCT	0.592													C|||	2238	0.446885	0.6014	0.5216	5008	,	,		19059	0.2837		0.4463	False		,,,				2504	0.3538				p.V92V		Atlas-SNP	.											TNC,NS,carcinoma,0,1	TNC	282	1	1	Substitution - coding silent(1)	stomach(1)	c.G276A						PASS	.	C		2480,1926	625.1+/-394.5	700,1080,423	215	210	211		276	-1.1	0.6	9	dbSNP_86	211	3789,4811	537.4+/-383.2	843,2103,1354	no	coding-synonymous	TNC	NM_002160.3		1543,3183,1777	TT,TC,CC		44.0581,43.7131,48.2008		92/2202	117853022	6269,6737	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon2			CCCATCCACTGTG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.276G>A	9.37:g.117853022C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	126	125	0.992063	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																			C|0.530;T|0.470	0.470	strong		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117853022	C	T	117853022	2	4	22	1	0	0	0	0	0	0	0	1	16267	581	21	2		2	TNC	9	117853022	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3708	117853022	23360409	5323	10431										
PAPPA	5069	hgsc.bcm.edu	37	chr9	118950208	118950208	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcctgggagctggacgtGctggaggtgagcaactcctc	14	11	1	1	rs80284365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:118950208G>T	ENST00000328252.3	+	2	1560	c.1191G>T	c.(1189-1191)gtG>gtT	p.V397V	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	397	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTGGACGTGCTGGAGGTGA	0.582													G|||	222	0.0443291	0.1581	0.0115	5008	,	,		19158	0.0		0.003	False		,,,				2504	0.002				p.V397V		Atlas-SNP	.											.	PAPPA	243	.	0			c.G1191T						PASS	.	G		626,3780	270.7+/-269.8	45,536,1622	71	61	64		1191	1	1	9	dbSNP_132	64	32,8568	20.4+/-63.3	1,30,4269	no	coding-synonymous	PAPPA	NM_002581.3		46,566,5891	TT,TG,GG		0.3721,14.2079,5.0592		397/1628	118950208	658,12348	2203	4300	6503	SO:0001819	synonymous_variant	5069	exon2			GGACGTGCTGGAG		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1191G>T	9.37:g.118950208G>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	78	52	0.666667	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																			G|0.955;T|0.045	0.045	strong		0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118950208	G	T	118950208	2	4	22	1	0	0	0	0	0	0	0	1	11432	1306	46	4		4	PAPPA	9	118950208	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1097186	118950208	22263223	5324	10432										
ASTN2	23245	hgsc.bcm.edu	37	chr9	119249690	119249690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgactgagtagatactgaCttcagggacctctccatggc	11	10	2	4	rs16933591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:119249690C>T	ENST00000313400.4	-	20	3545	c.3445G>A	c.(3445-3447)Gtc>Atc	p.V1149I	ASTN2_ENST00000341734.4_Missense_Mutation_p.V201I|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1098I|ASTN2_ENST00000288520.5_Missense_Mutation_p.V250I|ASTN2_ENST00000361477.3_Missense_Mutation_p.V201I|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1145I			O75129	ASTN2_HUMAN	astrotactin 2	1149	Fibronectin type-III.		V -> I (in dbSNP:rs16933591).		negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.V1098F(1)|p.V201F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGATACTGACTTCAGGGACC	0.507													C|||	101	0.0201677	0.0741	0.0043	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0				p.V1098I		Atlas-SNP	.											ASTN2_ENST00000361477,NS,carcinoma,0,1	ASTN2	307	1	2	Substitution - Missense(2)	lung(2)	c.G3292A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	262,4144	150.7+/-184.7	5,252,1946	118	106	110		601,3292,748,601,601	3.6	1	9	dbSNP_123	110	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense,missense,missense	ASTN2	NM_001184734.1,NM_014010.4,NM_198186.3,NM_198187.3,NM_198188.2	29,29,29,29,29	5,254,6244	TT,TC,CC		0.0233,5.9464,2.0298	benign,benign,benign,benign,benign	201/376,1098/1289,250/441,201/403,201/396	119249690	264,12742	2203	4300	6503	SO:0001583	missense	23245	exon19			TACTGACTTCAGG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3445G>A	9.37:g.119249690C>T	ENSP00000314038:p.Val1149Ile	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	79	50	0.632911	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	C	12.97	2.096981	0.37048	0.059464	2.33E-4	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.49	3.6	0.41247	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.383922	0.28225	N	0.016137	T	0.01320	0.0043	N	0.08118	0	0.29275	N	0.870436	B;B;B;B;B;B;B	0.15473	0.013;0.0;0.006;0.0;0.01;0.0;0.0	B;B;B;B;B;B;B	0.11329	0.006;0.0;0.001;0.001;0.005;0.0;0.0	T	0.06338	-1.0832	10	0.20519	T	0.43	-28.4103	5.7264	0.18015	0.0:0.6328:0.0:0.3672	rs16933591;rs52796427;rs16933591	201;201;1098;1149;1145;201;250	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	I	1149;1145;250;201;872;1098;201	ENSP00000314038:V1149I;ENSP00000363108:V1145I;ENSP00000288520:V250I;ENSP00000339925:V201I;ENSP00000363098:V872I;ENSP00000354504:V1098I;ENSP00000355116:V201I	ENSP00000288520:V250I	V	-	1	0	ASTN2	118289511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.748000	0.47483	1.436000	0.47453	0.655000	0.94253	GTC	C|0.979;T|0.021	0.021	strong		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119249690	C	T	119249690	3	4	22	1	0	0	0	0	1	0	0	0	1065	565	20	2	631	2	ASTN2	9	119249690	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	299482	119249690	21963741	5325	10433										
ASTN2	23245	hgsc.bcm.edu	37	chr9	119739015	119739015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcactgcgcacacacagGtgtctgtgaacagggtcagg	13	11	3	1	rs10983437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:119739015G>A	ENST00000313400.4	-	8	1741	c.1641C>T	c.(1639-1641)caC>caT	p.H547H	ASTN2_ENST00000361209.2_Silent_p.H496H|ASTN2_ENST00000373996.3_Silent_p.H547H|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	547	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCACACACAGGTGTCTGTGAA	0.498													G|||	687	0.137181	0.2655	0.0793	5008	,	,		20485	0.0823		0.1123	False		,,,				2504	0.0869				p.H496H		Atlas-SNP	.											.	ASTN2	307	.	0			c.C1488T						PASS	.	G		1089,3317	392.4+/-328.5	143,803,1257	111	89	96		1488	4	1	9	dbSNP_120	96	917,7683	204.1+/-246.9	47,823,3430	no	coding-synonymous	ASTN2	NM_014010.4		190,1626,4687	AA,AG,GG		10.6628,24.7163,15.4237		496/1289	119739015	2006,11000	2203	4300	6503	SO:0001819	synonymous_variant	23245	exon7			ACACAGGTGTCTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1641C>T	9.37:g.119739015G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	141	102	0.723404	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				G|0.856;A|0.144	0.144	strong		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		A	119739015	G	A	119739015	2	1	22	1	0	0	0	0	0	0	0	1	1065	1252	44	2		2	ASTN2	9	119739015	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	489325	119739015	21474416	5326	10434										
DBC1	1620	hgsc.bcm.edu	37	chr9	121929575	121929575	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaacaagaggagcatcacTgacgaagaggaatagaactg	11	8	1	4	rs28453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:121929575T>C	ENST00000265922.3	-	8	2534	c.2073A>G	c.(2071-2073)tcA>tcG	p.S691S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	691					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGAGCATCACTGACGAAGAGG	0.572													C|||	933	0.186302	0.5136	0.1124	5008	,	,		18193	0.004		0.0915	False		,,,				2504	0.0818				p.S691S		Atlas-SNP	.											.	DBC1	194	.	0			c.A2073G						PASS	.	C		1908,2498	626.9+/-394.8	431,1046,726	130	127	128		2073	-11	0	9	dbSNP_79	128	717,7883	786.8+/-407.6	35,647,3618	no	coding-synonymous	DBC1	NM_014618.2		466,1693,4344	CC,CT,TT		8.3372,43.3046,20.183		691/762	121929575	2625,10381	2203	4300	6503	SO:0001819	synonymous_variant	1620	exon8			CATCACTGACGAA	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2073A>G	9.37:g.121929575T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	207	77	0.371981	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	CCDS6822.1																																																																																			T|0.797;C|0.203	0.203	strong		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		C	121929575	T	C	121929575	2	2	22	1	0	0	0	0	0	0	0	1	4247	1567	55	3		3	DBC1	9	121929575	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2190560	121929575	19283856	5327	10435										
TRAF1	7185	hgsc.bcm.edu	37	chr9	123671613	123671613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccatctccattcaggtaCagccgcaggcacaacttgta	9	13	2	0	rs112060909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:123671613C>T	ENST00000373887.3	-	7	3372	c.927G>A	c.(925-927)ctG>ctA	p.L309L	TRAF1_ENST00000540010.1_Silent_p.L309L|TRAF1_ENST00000546084.1_Silent_p.L187L	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	309	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CATTCAGGTACAGCCGCAGGC	0.547													C|||	68	0.0135783	0.0492	0.0043	5008	,	,		20674	0.0		0.0	False		,,,				2504	0.0				p.L309L		Atlas-SNP	.											.	TRAF1	42	.	0			c.G927A						PASS	.	C	,,	179,4227	117.1+/-155.0	3,173,2027	173	163	167		927,561,927	-0.2	1	9	dbSNP_132	167	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	TRAF1	NM_001190945.1,NM_001190947.1,NM_005658.4	,,	3,179,6321	TT,TC,CC		0.0698,4.0626,1.4224	,,	309/417,187/295,309/417	123671613	185,12821	2203	4300	6503	SO:0001819	synonymous_variant	7185	exon7			CAGGTACAGCCGC	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.927G>A	9.37:g.123671613C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	127	48	0.377953	NM_005658	B4DJ77|Q658U1|Q8NF13	Silent	SNP	ENST00000373887.3	37	CCDS6825.1																																																																																			C|0.983;T|0.017	0.017	strong		0.547	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		T	123671613	C	T	123671613	2	4	22	1	0	0	0	0	0	0	0	1	16434	465	17	2		2	TRAF1	9	123671613	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1742038	123671613	17541818	5328	10436										
C5	727	hgsc.bcm.edu	37	chr9	123725971	123725971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaaggagatgtccatcacCgcatgagaggatccagatga	13	9	1	4	rs12237774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:123725971C>T	ENST00000223642.1	-	34	4295	c.4266G>A	c.(4264-4266)gcG>gcA	p.A1422A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGTCCATCACCGCATGAGAGG	0.358													C|||	534	0.106629	0.1936	0.0375	5008	,	,		17051	0.1994		0.0109	False		,,,				2504	0.0409				p.A1422A		Atlas-SNP	.											.	C5	124	.	0			c.G4266A						PASS	.	C		824,3582	329.1+/-300.9	77,670,1456	79	76	77		4266	-2.5	1	9	dbSNP_120	77	107,8493	57.2+/-118.5	0,107,4193	no	coding-synonymous	C5	NM_001735.2		77,777,5649	TT,TC,CC		1.2442,18.7018,7.1582		1422/1677	123725971	931,12075	2203	4300	6503	SO:0001819	synonymous_variant	727	exon34			CATCACCGCATGA	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4266G>A	9.37:g.123725971C>T		Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	279	101	0.362007	NM_001735	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																			C|0.914;T|0.086	0.086	strong		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123725971	C	T	123725971	2	4	22	1	0	0	0	0	0	0	0	1	2280	639	23	1		1	C5	9	123725971	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54358	123725971	17487460	5329	10437										
C5	727	hgsc.bcm.edu	37	chr9	123783934	123783934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcattcagtgttactgggacTcctcctaccaactggtcaag	9	12	2	0	rs10985126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:123783934T>C	ENST00000223642.1	-	11	1184	c.1155A>G	c.(1153-1155)ggA>ggG	p.G385G		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	385					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTACTGGGACTCCTCCTACCA	0.393													C|||	1208	0.241214	0.4418	0.1037	5008	,	,		19524	0.244		0.167	False		,,,				2504	0.1411				p.G385G		Atlas-SNP	.											C5,NS,adenoma,0,1	C5	124	1	0			c.A1155G						PASS	.	C		1677,2729	653.1+/-399.5	318,1041,844	189	177	181		1155	1.9	0.2	9	dbSNP_120	181	1548,7052	745.4+/-407.3	141,1266,2893	no	coding-synonymous	C5	NM_001735.2		459,2307,3737	CC,CT,TT		18.0,38.0617,24.7962		385/1677	123783934	3225,9781	2203	4300	6503	SO:0001819	synonymous_variant	727	exon11			TGGGACTCCTCCT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1155A>G	9.37:g.123783934T>C		Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	285	97	0.340351	NM_001735	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																			T|0.764;C|0.236	0.236	strong		0.393	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123783934	T	C	123783934	2	2	22	1	0	0	0	0	0	0	0	1	2280	1538	54	3		3	C5	9	123783934	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	57963	123783934	17429497	5330	10438										
C5	727	hgsc.bcm.edu	37	chr9	123800218	123800218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtcattcaacgaataaaCtctaacttttactgtaagaa	5	8	3	1	rs17216529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:123800218C>T	ENST00000223642.1	-	4	462	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	145			V -> I (in dbSNP:rs17216529). {ECO:0000269|Ref.2}.		activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACGAATAAACTCTAACTTTT	0.249													C|||	734	0.146565	0.3124	0.0504	5008	,	,		15211	0.1845		0.0696	False		,,,				2504	0.0307				p.V145I		Atlas-SNP	.											.	C5	124	.	0			c.G433A						PASS	.	C	ILE/VAL	991,3401		108,775,1313	21	22	22		433	3.5	1	9	dbSNP_123	22	612,7928		29,554,3687	yes	missense	C5	NM_001735.2	29	137,1329,5000	TT,TC,CC		7.1663,22.5638,12.3956	possibly-damaging	145/1677	123800218	1603,11329	2196	4270	6466	SO:0001583	missense	727	exon4			AATAAACTCTAAC	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.433G>A	9.37:g.123800218C>T	ENSP00000223642:p.Val145Ile	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	152	48	0.315789	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	330	0.1510989010989011	155	0.3150406504065041	18	0.049723756906077346	103	0.18006993006993008	54	0.0712401055408971	C	16.12	3.033935	0.54896	0.225638	0.071663	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.74106	-0.81	5.44	3.48	0.39840	Alpha-2-macroglobulin, N-terminal (1);	0.063724	0.64402	D	0.000006	T	0.00012	0.0000	L	0.36672	1.1	0.24814	P	0.99262246	P;P	0.48407	0.821;0.91	P;P	0.46237	0.461;0.508	T	0.05852	-1.0860	9	0.40728	T	0.16	.	9.9544	0.41657	0.0:0.784:0.1389:0.0771	rs17216529	216;145	Q59GS8;P01031	.;CO5_HUMAN	I	145;216	ENSP00000223642:V145I	ENSP00000223642:V145I	V	-	1	0	C5	122840039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.460000	0.53028	1.444000	0.47605	0.650000	0.86243	GTT	C|0.880;T|0.120	0.120	strong		0.249	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123800218	C	T	123800218	3	4	22	1	0	0	0	0	1	0	0	0	2280	565	20	2	4749	2	C5	9	123800218	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16284	123800218	17413213	5331	10439										
GSN	2934	hgsc.bcm.edu	37	chr9	124091256	124091256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggatgcccatcctcctcGcctctttgcctgctccaaca	7	17	1	0	rs9696578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:124091256G>T	ENST00000373818.4	+	14	2072	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L	GSN_ENST00000449733.1_Missense_Mutation_p.R617L|GSN_ENST00000373808.2_Missense_Mutation_p.R617L|GSN_ENST00000373807.1_Missense_Mutation_p.R399L|GSN_ENST00000373806.1_Missense_Mutation_p.R93L|GSN_ENST00000412819.1_Missense_Mutation_p.R617L|GSN_ENST00000373823.3_Missense_Mutation_p.R617L|GSN_ENST00000341272.2_Missense_Mutation_p.R617L|GSN_ENST00000436847.1_Missense_Mutation_p.R628L|GSN_ENST00000545652.1_Missense_Mutation_p.R625L|GSN_ENST00000394353.2_Missense_Mutation_p.R628L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	668	Actin-binding, Ca-sensitive. {ECO:0000255}.		R -> L (in dbSNP:rs9696578).		actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CATCCTCCTCGCCTCTTTGCC	0.622													G|||	18	0.00359425	0.0129	0.0	5008	,	,		21562	0.0		0.001	False		,,,				2504	0.0				p.R668L		Atlas-SNP	.											.	GSN	81	.	0			c.G2003T						PASS	.	G	LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG	46,4360	49.6+/-84.7	0,46,2157	89	74	79		2003,1850,1850,1850,1850,1883,1883,1850	4.7	1	9	dbSNP_119	79	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	102,102,102,102,102,102,102,102	0,47,6456	TT,TG,GG		0.0116,1.044,0.3614	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	668/783,617/732,617/732,617/732,617/732,628/743,628/743,617/732	124091256	47,12959	2203	4300	6503	SO:0001583	missense	2934	exon14			CTCCTCGCCTCTT	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2003G>T	9.37:g.124091256G>T	ENSP00000362924:p.Arg668Leu	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	49	25	0.510204	NM_000177	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	0	0.0	1	0.0013192612137203166	G	27.6	4.842728	0.91197	0.01044	1.16E-4	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.57595	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;2.41;0.39	5.56	4.66	0.58398	.	0.110224	0.64402	D	0.000005	T	0.74527	0.3728	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.999;0.992;0.999	D	0.84690	0.0722	10	0.87932	D	0	-20.0116	15.541	0.76048	0.0:0.1383:0.8617:0.0	rs9696578;rs9696578	641;625;628;399;668	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	L	617;628;628;617;617;617;617;601;591;625;668;399;93;93	ENSP00000362929:R617L;ENSP00000411293:R628L;ENSP00000377882:R628L;ENSP00000409358:R617L;ENSP00000416586:R617L;ENSP00000340888:R617L;ENSP00000362914:R617L;ENSP00000445823:R625L;ENSP00000362924:R668L;ENSP00000362913:R399L;ENSP00000362912:R93L	ENSP00000340888:R617L	R	+	2	0	GSN	123131077	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.362000	0.97126	1.322000	0.45245	0.655000	0.94253	CGC	G|0.993;T|0.007	0.007	strong		0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		T	124091256	G	T	124091256	3	4	22	1	0	0	0	0	1	0	0	0	6825	1087	38	4	2085	4	GSN	9	124091256	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	291038	124091256	17122175	5332	10440										
STOM	2040	hgsc.bcm.edu	37	chr9	124110368	124110368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacaggtagtttcacatcCttaatttccacacgctccac	5	14	1	0	rs115702601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:124110368C>T	ENST00000286713.2	-	6	602	c.585G>A	c.(583-585)aaG>aaA	p.K195K	AL161784.1_ENST00000594963.1_Silent_p.S46S|STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.K144K	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	195					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GTTTCACATCCTTAATTTCCA	0.493													C|||	19	0.00379393	0.0136	0.0	5008	,	,		16533	0.0		0.001	False		,,,				2504	0.0				p.K195K		Atlas-SNP	.											.	STOM	15	.	0			c.G585A						PASS	.	C	,	50,4356	52.3+/-87.9	0,50,2153	123	121	122		585,	1.5	1	9	dbSNP_132	122	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,intron	STOM	NM_004099.4,NM_198194.1	,	0,51,6452	TT,TC,CC		0.0116,1.1348,0.3921	,	195/289,	124110368	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	2040	exon6			CACATCCTTAATT		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"erythrocyte membrane protein band 7.2 (stomatin)"	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.585G>A	9.37:g.124110368C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	100	55	0.55	NM_001270526	B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Silent	SNP	ENST00000286713.2	37	CCDS6830.1																																																																																			C|0.996;T|0.004	0.004	strong		0.493	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		T	124110368	C	T	124110368	2	4	22	1	0	0	0	0	0	0	0	1	15311	680	24	2		2	STOM	9	124110368	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19112	124110368	17103063	5333	10441										
TTLL11	158135	hgsc.bcm.edu	37	chr9	124633018	124633018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcgaatggtttttcaagCtgctgagacctgaagcacac	10	11	1	2	rs16911064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:124633018C>T	ENST00000321582.5	-	7	1948	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					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						GTTTTTCAAGCTGCTGAGACC	0.488													C|||	88	0.0175719	0.0613	0.0058	5008	,	,		21797	0.0		0.003	False		,,,				2504	0.0				p.Q587Q		Atlas-SNP	.											.	TTLL11	67	.	0			c.G1761A						PASS	.	C		96,1288		2,92,598	142	125	130		1761	1.6	0.8	9	dbSNP_123	130	0,3182		0,0,1591	no	coding-synonymous	TTLL11	NM_001139442.1		2,92,2189	TT,TC,CC		0.0,6.9364,2.1025		587/801	124633018	96,4470	692	1591	2283	SO:0001819	synonymous_variant	158135	exon7			TTCAAGCTGCTGA	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	ENST00000321582.5:c.1761G>A	9.37:g.124633018C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	132	67	0.507576	NM_001139442		Silent	SNP	ENST00000321582.5	37	CCDS48012.1																																																																																			C|0.983;T|0.017	0.017	strong		0.488	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088486		T	124633018	C	T	124633018	2	4	22	1	0	0	0	0	0	0	0	1	16721	796	28	2		2	TTLL11	9	124633018	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	522650	124633018	16580413	5334	10442										
TTLL11	158135	hgsc.bcm.edu	37	chr9	124855220	124855220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcctcagccgcactggGctgcgccggggccggggcca	15	19	1	0	rs61742325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:124855220G>A	ENST00000373776.3	-	1	665	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.P160S	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	160					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						GCCGCACTGGGCTGCGCCGGG	0.766													G|||	247	0.0493211	0.1808	0.0115	5008	,	,		11208	0.0		0.0	False		,,,				2504	0.0				p.P160S		Atlas-SNP	.											.	TTLL11	67	.	0			c.C478T						PASS	.	G	SER/PRO,SER/PRO	440,3254		12,416,1419	5	6	6		478,478	0.4	0.2	9	dbSNP_129	6	1,7393		0,1,3696	no	missense,missense	TTLL11	NM_001139442.1,NM_194252.2	74,74	12,417,5115	AA,AG,GG		0.0135,11.9112,3.9773	possibly-damaging,possibly-damaging	160/801,160/539	124855220	441,10647	1847	3697	5544	SO:0001583	missense	158135	exon1			CACTGGGCTGCGC	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.478C>T	9.37:g.124855220G>A	ENSP00000362881:p.Pro160Ser	Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_001139442		Missense_Mutation	SNP	ENST00000373776.3	37	CCDS6834.2	98	0.04487179487179487	90	0.18292682926829268	8	0.022099447513812154	0	0.0	0	0.0	G	8.451	0.853131	0.17106	0.119112	1.35E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.08458	3.24;3.09	4.73	0.383	0.16239	.	8.202900	0.00520	U	0.000189	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.003	T	0.41360	-0.9513	8	.	.	.	.	3.3638	0.07196	0.0901:0.2587:0.426:0.2252	.	160;160	F8W6M1;Q8NHH1	.;TTL11_HUMAN	S	160	ENSP00000321346:P160S;ENSP00000362881:P160S	.	P	-	1	0	TTLL11	123895041	0.067000	0.21026	0.156000	0.22583	0.281000	0.26958	0.757000	0.26433	0.382000	0.24878	-0.379000	0.06801	CCC	G|0.955;A|0.045	0.045	strong		0.766	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		A	124855220	G	A	124855220	3	1	22	1	0	0	0	0	1	0	0	0	16721	1203	42	2	2038	2	TTLL11	9	124855220	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222202	124855220	16358211	5335	10443										
PTGS1	5742	hgsc.bcm.edu	37	chr9	125143792	125143792	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttcttcaaaacttctggCaagatgggtcctggcttcac	9	11	4	1	rs5788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125143792C>A	ENST00000362012.2	+	6	644	c.639C>A	c.(637-639)ggC>ggA	p.G213G	PTGS1_ENST00000540753.1_Silent_p.G188G|PTGS1_ENST00000373698.5_Silent_p.G104G|PTGS1_ENST00000223423.4_Silent_p.G213G	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	213					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.G213G(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAACTTCTGGCAAGATGGGTC	0.542													C|||	1356	0.270767	0.6876	0.2406	5008	,	,		19091	0.0407		0.1402	False		,,,				2504	0.1002				p.G213G		Atlas-SNP	.											PTGS1,NS,carcinoma,0,1	PTGS1	84	1	1	Substitution - coding silent(1)	stomach(1)	c.C639A						PASS	.	C	,	2612,1794	640.2+/-397.3	804,1004,395	65	71	69		639,639	1.9	1	9	dbSNP_52	69	1130,7470	233.0+/-266.5	70,990,3240	no	coding-synonymous,coding-synonymous	PTGS1	NM_000962.2,NM_080591.1	,	874,1994,3635	AA,AC,CC		13.1395,40.7172,28.7713	,	213/600,213/563	125143792	3742,9264	2203	4300	6503	SO:0001819	synonymous_variant	5742	exon6			TTCTGGCAAGATG	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.639C>A	9.37:g.125143792C>A		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	175	174	0.994286	NM_000962	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	CCDS6842.1																																																																																			C|0.722;A|0.278	0.278	strong		0.542	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			A	125143792	C	A	125143792	2	1	22	1	0	0	0	0	0	0	0	1	12755	697	25	4		4	PTGS1	9	125143792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288572	125143792	16069639	5336	10444										
OR1J1	347168	hgsc.bcm.edu	37	chr9	125239449	125239449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagagaccaataattgtccGataatagatagtcaccactg	7	8	1	2	rs192344372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125239449G>A	ENST00000259357.2	-	1	786	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATAATTGTCCGATAATAGATA	0.453													C|||	3	0.000599042	0.0023	0.0	5008	,	,		23406	0.0		0.0	False		,,,				2504	0.0				p.R253W		Atlas-SNP	.											OR1J1,colon,carcinoma,0,1	OR1J1	46	1	0			c.C757T						PASS	.						135	129	131					9																	125239449		2203	4300	6503	SO:0001583	missense	347168	exon1			TTGTCCGATAATA	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.757C>T	9.37:g.125239449G>A	ENSP00000259357:p.Arg253Trp	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	137	92	0.671533	NM_001004451	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	CCDS35120.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.97	3.734988	0.69189	.	.	ENSG00000136834	ENST00000259357	T	0.37058	1.22	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.23965	0.0580	N	0.24115	0.695	0.35696	D	0.81525	P	0.36874	0.572	B	0.26614	0.071	T	0.35176	-0.9799	10	0.87932	D	0	.	14.8875	0.70582	0.0:0.8554:0.1446:0.0	.	253	Q8NGS3	OR1J1_HUMAN	W	253	ENSP00000259357:R253W	ENSP00000259357:R253W	R	-	1	2	OR1J1	124279270	0.076000	0.21285	1.000000	0.80357	0.049000	0.14656	1.108000	0.31123	1.482000	0.48325	-0.181000	0.13052	CGG	G|0.999;A|0.001	0.001	strong		0.453	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			A	125239449	G	A	125239449	3	1	22	1	0	0	0	0	1	0	0	0	10959	1057	37	1	214	1	OR1J1	9	125239449	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95657	125239449	15973982	5337	10445										
OR1J2	26740	hgsc.bcm.edu	37	chr9	125273435	125273435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttccttattacatcaatgGcatatgaccgatatgttgcc	7	10	1	1	rs41277120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125273435G>A	ENST00000335302.5	+	1	355	c.355G>A	c.(355-357)Gca>Aca	p.A119T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	119			A -> T (in dbSNP:rs41277120).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TACATCAATGGCATATGACCG	0.408													G|||	483	0.0964457	0.0734	0.0187	5008	,	,		24802	0.2817		0.0149	False		,,,				2504	0.0757				p.A119T		Atlas-SNP	.											.	OR1J2	64	.	0			c.G355A						PASS	.	G	THR/ALA	273,4133	152.9+/-186.6	8,257,1938	162	136	145		355	4.1	0.6	9	dbSNP_127	145	122,8478	63.5+/-125.6	3,116,4181	yes	missense	OR1J2	NM_054107.1	58	11,373,6119	AA,AG,GG		1.4186,6.1961,3.0371	probably-damaging	119/314	125273435	395,12611	2203	4300	6503	SO:0001583	missense	26740	exon1			TCAATGGCATATG		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.355G>A	9.37:g.125273435G>A	ENSP00000335575:p.Ala119Thr	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	250	77	0.308	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	243	0.11126373626373626	32	0.06504065040650407	7	0.019337016574585635	195	0.3409090909090909	9	0.011873350923482849	G	15.03	2.710987	0.48517	0.061961	0.014186	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.54071	0.59	5.02	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001302	T	0.00012	0.0000	H	0.97635	4.045	0.38813	P	0.044537999999999967	D	0.89917	1.0	D	0.97110	1.0	T	0.25398	-1.0133	9	0.87932	D	0	.	5.6578	0.17652	0.0953:0.0:0.6023:0.3024	rs41277120	119	Q8NGS2	OR1J2_HUMAN	T	119	ENSP00000335575:A119T	ENSP00000335575:A119T	A	+	1	0	OR1J2	124313256	1.000000	0.71417	0.570000	0.28473	0.034000	0.12701	1.969000	0.40510	1.339000	0.45563	0.650000	0.86243	GCA	G|0.948;A|0.052	0.052	strong		0.408	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			A	125273435	G	A	125273435	3	1	22	1	0	0	0	0	1	0	0	0	10960	1203	42	2	357	2	OR1J2	9	125273435	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33986	125273435	15939996	5338	10446										
OR1J2	26740	hgsc.bcm.edu	37	chr9	125274015	125274015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtagagcaacatttttctCttggtgacatctgacttttt	7	8	2	3	rs150890302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125274015C>T	ENST00000335302.5	+	1	935	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACATTTTTCTCTTGGTGACAT	0.378													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		20140	0.0		0.0	False		,,,				2504	0.0				p.S312F		Atlas-SNP	.											.	OR1J2	64	.	0			c.C935T						PASS	.	C	PHE/SER	35,4371	29.0+/-57.7	0,35,2168	39	42	41		935	-0.7	0	9	dbSNP_134	41	0,8600		0,0,4300	yes	missense	OR1J2	NM_054107.1	155	0,35,6468	TT,TC,CC		0.0,0.7944,0.2691	benign	312/314	125274015	35,12971	2203	4300	6503	SO:0001583	missense	26740	exon1			TTTTCTCTTGGTG		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.935C>T	9.37:g.125274015C>T	ENSP00000335575:p.Ser312Phe	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	36	0.375	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.26	1.301654	0.23736	0.007944	0.0	ENSG00000197233	ENST00000335302	T	0.01505	4.82	4.67	-0.71	0.11234	.	2.214490	0.02811	U	0.124264	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47114	-0.9142	10	0.52906	T	0.07	.	1.4467	0.02366	0.1417:0.3067:0.138:0.4137	.	312	Q8NGS2	OR1J2_HUMAN	F	312	ENSP00000335575:S312F	ENSP00000335575:S312F	S	+	2	0	OR1J2	124313836	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.098000	0.03346	0.218000	0.20820	0.632000	0.83419	TCT	C|0.998;T|0.002	0.002	strong		0.378	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			T	125274015	C	T	125274015	3	4	22	1	0	0	0	0	1	0	0	0	10960	913	32	2	937	2	OR1J2	9	125274015	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	580	125274015	15939416	5339	10447										
OR1N1	138883	hgsc.bcm.edu	37	chr9	125288893	125288893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccaccccaccacgggttCggaccctcaggatagctggc	11	17	1	0	rs58226717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125288893C>T	ENST00000304880.2	-	1	679	c.680G>A	c.(679-681)cGa>cAa	p.R227Q		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	227			R -> Q (in dbSNP:rs58226717).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACCACGGGTTCGGACCCTCAG	0.537													C|||	483	0.0964457	0.0734	0.0187	5008	,	,		22785	0.2798		0.0149	False		,,,				2504	0.0777				p.R227Q		Atlas-SNP	.											OR1N1,NS,carcinoma,-1,2	OR1N1	38	2	0			c.G680A						PASS	.	C	GLN/ARG	263,4143	149.2+/-183.4	7,249,1947	86	73	78		680	-7.5	0	9	dbSNP_129	78	114,8486	60.6+/-122.4	2,110,4188	yes	missense	OR1N1	NM_012363.1	43	9,359,6135	TT,TC,CC		1.3256,5.9691,2.8987	benign	227/312	125288893	377,12629	2203	4300	6503	SO:0001583	missense	138883	exon1			CGGGTTCGGACCC	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.680G>A	9.37:g.125288893C>T	ENSP00000306974:p.Arg227Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	102	31	0.303922	NM_012363	A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	CCDS6844.1	241	0.11034798534798534	32	0.06504065040650407	7	0.019337016574585635	193	0.3374125874125874	9	0.011873350923482849	C	11.08	1.533018	0.27387	0.059691	0.013256	ENSG00000171505	ENST00000304880	T	0.37915	1.17	3.75	-7.49	0.01355	GPCR, rhodopsin-like superfamily (1);	0.293204	0.17403	U	0.175464	T	0.00012	0.0000	N	0.17278	0.47	0.80722	P	0.0	B	0.20671	0.047	B	0.10450	0.005	T	0.32587	-0.9901	9	0.72032	D	0.01	.	6.5113	0.22224	0.0849:0.0918:0.4865:0.3368	rs58226717	227	Q8NGS0	OR1N1_HUMAN	Q	227	ENSP00000306974:R227Q	ENSP00000306974:R227Q	R	-	2	0	OR1N1	124328714	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-6.175000	0.00077	-2.251000	0.00700	0.545000	0.68477	CGA	C|0.949;T|0.051	0.051	strong		0.537	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			T	125288893	C	T	125288893	3	4	22	1	0	0	0	0	1	0	0	0	10969	884	31	1	259	1	OR1N1	9	125288893	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14878	125288893	15924538	5340	10448										
OR1N2	138882	hgsc.bcm.edu	37	chr9	125315557	125315557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttctaggactctctgagTggccagaggagcagcctctt	11	12	3	2	rs1831370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125315557T>C	ENST00000373688.2	+	1	167	c.109T>C	c.(109-111)Tgg>Cgg	p.W37R		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	37			W -> R (in dbSNP:rs1831370). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W37R(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACTCTCTGAGTGGCCAGAGGA	0.517													C|||	2797	0.558506	0.5946	0.5908	5008	,	,		18962	0.6637		0.4791	False		,,,				2504	0.4601				p.W37R		Atlas-SNP	.											OR1N2,colon,carcinoma,-1,2	OR1N2	51	2	1	Substitution - Missense(1)	stomach(1)	c.T109C						PASS	.	C	ARG/TRP	2528,1878	541.4+/-375.8	714,1100,389	107	98	101		109	-2.6	0	9	dbSNP_92	101	4212,4388	583.3+/-391.5	1011,2190,1099	yes	missense	OR1N2	NM_001004457.1	101	1725,3290,1488	CC,CT,TT		48.9767,42.6237,48.1778	benign	37/331	125315557	6740,6266	2203	4300	6503	SO:0001583	missense	138882	exon1			TCTGAGTGGCCAG		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.109T>C	9.37:g.125315557T>C	ENSP00000362792:p.Trp37Arg	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	204	71	0.348039	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	1197	0.5480769230769231	280	0.5691056910569106	211	0.5828729281767956	353	0.6171328671328671	353	0.4656992084432718	C	1.129	-0.653039	0.03480	0.573763	0.489767	ENSG00000171501	ENST00000373688	T	0.01059	5.39	4.31	-2.62	0.06152	.	1.300740	0.05678	N	0.589889	T	0.00012	0.0000	N	0.02842	-0.48	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	9	0.28530	T	0.3	.	0.6697	0.00856	0.2434:0.3281:0.1193:0.3093	rs1831370;rs17530879;rs60632643;rs1831370	37	Q8NGR9	OR1N2_HUMAN	R	37	ENSP00000362792:W37R	ENSP00000362792:W37R	W	+	1	0	OR1N2	124355378	0.000000	0.05858	0.002000	0.10522	0.463000	0.32649	-5.227000	0.00139	-0.761000	0.04670	-0.860000	0.03012	TGG	T|0.471;C|0.529	0.529	strong		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			C	125315557	T	C	125315557	3	2	22	1	0	0	0	0	1	0	0	0	10970	1696	59	2	111	2	OR1N2	9	125315557	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26664	125315557	15897874	5341	10449										
OR1N2	138882	hgsc.bcm.edu	37	chr9	125315778	125315778	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccagagtcagatcatctcGtattctgggtgtcttgcaca	9	11	5	2	rs1411271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125315778G>C	ENST00000373688.2	+	1	388	c.330G>C	c.(328-330)tcG>tcC	p.S110S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGATCATCTCGTATTCTGGGT	0.483													C|||	2802	0.559505	0.5953	0.5908	5008	,	,		25005	0.6677		0.4791	False		,,,				2504	0.4601				p.S110S		Atlas-SNP	.											.	OR1N2	51	.	0			c.G330C						PASS	.	C		2529,1877	541.3+/-375.7	715,1099,389	232	227	229		330	3.5	1	9	dbSNP_88	229	4211,4389	583.4+/-391.5	1011,2189,1100	no	coding-synonymous	OR1N2	NM_001004457.1		1726,3288,1489	CC,CG,GG		48.9651,42.601,48.1778		110/331	125315778	6740,6266	2203	4300	6503	SO:0001819	synonymous_variant	138882	exon1			CATCTCGTATTCT		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.330G>C	9.37:g.125315778G>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	174	64	0.367816	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	CCDS35123.1																																																																																			G|0.468;C|0.532	0.532	strong		0.483	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			C	125315778	G	C	125315778	2	2	22	1	0	0	0	0	0	0	0	1	10970	1132	40	4		4	OR1N2	9	125315778	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	221	125315778	15897653	5342	10450										
OR1N2	138882	hgsc.bcm.edu	37	chr9	125316033	125316033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagccatccctcatttctaTtgtgatcctagtgctctcct	5	13	3	1	rs1341042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125316033T>C	ENST00000373688.2	+	1	643	c.585T>C	c.(583-585)taT>taC	p.Y195Y		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCATTTCTATTGTGATCCTA	0.537													C|||	2799	0.558906	0.5961	0.5908	5008	,	,		18406	0.6637		0.4791	False		,,,				2504	0.4601				p.Y195Y		Atlas-SNP	.											.	OR1N2	51	.	0			c.T585C						PASS	.	C		2530,1876	541.1+/-375.7	715,1100,388	168	154	159		585	2.5	1	9	dbSNP_88	159	4211,4389	583.4+/-391.5	1011,2189,1100	no	coding-synonymous	OR1N2	NM_001004457.1		1726,3289,1488	CC,CT,TT		48.9651,42.5783,48.1701		195/331	125316033	6741,6265	2203	4300	6503	SO:0001819	synonymous_variant	138882	exon1			TTTCTATTGTGAT		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.585T>C	9.37:g.125316033T>C		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	236	80	0.338983	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	CCDS35123.1																																																																																			T|0.470;C|0.530	0.530	strong		0.537	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			C	125316033	T	C	125316033	2	2	22	1	0	0	0	0	0	0	0	1	10970	1500	52	2		2	OR1N2	9	125316033	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	255	125316033	15897398	5343	10451										
OR1N2	138882	hgsc.bcm.edu	37	chr9	125316350	125316350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatatggtgattattcccaCgctaaacccattcatttata	4	10	1	1	rs1411272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125316350C>T	ENST00000373688.2	+	1	960	c.902C>T	c.(901-903)aCg>aTg	p.T301M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	301			T -> M (in dbSNP:rs1411272). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T301M(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTATTCCCACGCTAAACCCA	0.393													T|||	2963	0.591653	0.6362	0.5994	5008	,	,		22233	0.6667		0.5457	False		,,,				2504	0.4959				p.T301M		Atlas-SNP	.											OR1N2,NS,carcinoma,0,1	OR1N2	51	1	1	Substitution - Missense(1)	stomach(1)	c.C902T						PASS	.	T	MET/THR	2739,1667	507.4+/-366.7	830,1079,294	138	138	138		902	4.6	1	9	dbSNP_88	138	4597,4003	553.7+/-386.4	1205,2187,908	yes	missense	OR1N2	NM_001004457.1	81	2035,3266,1202	TT,TC,CC		46.5465,37.8348,43.5953	benign	301/331	125316350	7336,5670	2203	4300	6503	SO:0001583	missense	138882	exon1			TTCCCACGCTAAA		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.902C>T	9.37:g.125316350C>T	ENSP00000362792:p.Thr301Met	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	145	50	0.344828	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	1269	0.5810439560439561	292	0.5934959349593496	215	0.5939226519337016	355	0.6206293706293706	407	0.5369393139841688	T	0.802	-0.755023	0.03019	0.621652	0.534535	ENSG00000171501	ENST00000373688	T	0.36340	1.26	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000020	T	0.00012	0.0000	N	0.01464	-0.85	0.51233	P	8.099999999999774E-5	B	0.10296	0.003	B	0.04013	0.001	T	0.45145	-0.9281	9	0.02654	T	1	.	9.4731	0.38856	0.0:0.0857:0.0:0.9143	rs1411272;rs17446467;rs52827441;rs59353884;rs1411272	301	Q8NGR9	OR1N2_HUMAN	M	301	ENSP00000362792:T301M	ENSP00000362792:T301M	T	+	2	0	OR1N2	124356171	0.924000	0.31332	1.000000	0.80357	0.841000	0.47740	3.075000	0.50073	0.800000	0.34041	-0.268000	0.10319	ACG	C|0.431;N|0.000	.	strong		0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			T	125316350	C	T	125316350	3	4	22	1	0	0	0	0	1	0	0	0	10970	536	19	1	904	1	OR1N2	9	125316350	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	317	125316350	15897081	5344	10452										
OR1L1	26737	hgsc.bcm.edu	37	chr9	125424164	125424164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagacactcgtctccagaCgcccatgtacttctttctaa	5	15	4	2	rs111803762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125424164C>T	ENST00000373686.1	+	1	320	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OR1L1_ENST00000309623.1_Missense_Mutation_p.T57M			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CGTCTCCAGACGCCCATGTAC	0.463													.|||	67	0.0133786	0.0477	0.0058	5008	,	,		21488	0.0		0.0	False		,,,				2504	0.0				p.T57M		Atlas-SNP	.											OR1L1,caecum,carcinoma,0,1	OR1L1	54	1	0			c.C170T						PASS	.	C	MET/THR	147,4259	102.1+/-140.7	3,141,2059	133	124	127		170	1	0.2	9	dbSNP_132	127	1,8599		0,1,4299	yes	missense	OR1L1	NM_001005236.3	81	3,142,6358	TT,TC,CC		0.0116,3.3364,1.1379	probably-damaging	57/311	125424164	148,12858	2203	4300	6503	SO:0001583	missense	26737	exon1			TCCAGACGCCCAT		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.320C>T	9.37:g.125424164C>T	ENSP00000362790:p.Thr107Met	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	226	151	0.668142	NM_001005236	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	C	14.01	2.408566	0.42715	0.033364	1.16E-4	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00481	7.11;7.11	3.11	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.58428	1.81	0.09310	N	0.999997	D	0.59357	0.985	P	0.55391	0.775	T	0.54077	-0.8347	9	0.72032	D	0.01	.	9.8389	0.40987	0.511:0.489:0.0:0.0	.	107	Q8NH94	OR1L1_HUMAN	M	107;57	ENSP00000362790:T107M;ENSP00000310773:T57M	ENSP00000310773:T57M	T	+	2	0	OR1L1	124463985	0.000000	0.05858	0.188000	0.23233	0.075000	0.17131	-1.376000	0.02561	0.095000	0.17434	0.313000	0.20887	ACG	C|0.987;T|0.013	0.013	strong		0.463	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				T	125424164	C	T	125424164	3	4	22	1	0	0	0	0	1	0	0	0	10963	536	19	1	172	1	OR1L1	9	125424164	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107814	125424164	15789267	5345	10453										
OR1L1	26737	hgsc.bcm.edu	37	chr9	125424277	125424277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacaaagaccatctcttacAgtgagtgtctgacccagatg	9	10	2	5	rs70157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125424277A>G	ENST00000373686.1	+	1	433	c.433A>G	c.(433-435)Agt>Ggt	p.S145G	OR1L1_ENST00000309623.1_Missense_Mutation_p.S95G			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	145			S -> G (in dbSNP:rs70157). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATCTCTTACAGTGAGTGTCT	0.428													.|||	649	0.129593	0.4713	0.036	5008	,	,		24856	0.0		0.001	False		,,,				2504	0.0				p.S95G		Atlas-SNP	.											.	OR1L1	54	.	0			c.A283G						PASS	.	G	GLY/SER	1689,2717	654.4+/-399.7	329,1031,843	202	199	200		283	1.1	0	9	dbSNP_79	200	10,8590	818.9+/-406.8	0,10,4290	yes	missense	OR1L1	NM_001005236.3	56	329,1041,5133	GG,GA,AA		0.1163,38.3341,13.0632	benign	95/311	125424277	1699,11307	2203	4300	6503	SO:0001583	missense	26737	exon1			TCTTACAGTGAGT		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.433A>G	9.37:g.125424277A>G	ENSP00000362790:p.Ser145Gly	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	180	114	0.633333	NM_001005236	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		228	0.1043956043956044	217	0.4410569105691057	11	0.03038674033149171	0	0.0	0	0.0	G	2.229	-0.376473	0.05000	0.383341	0.001163	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00402	7.56;7.56	3.11	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.11756	0.17	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.22941	-1.0202	8	0.46703	T	0.11	.	1.3175	0.02110	0.2108:0.169:0.4474:0.1728	rs70157;rs700052;rs56487442;rs70157	145	Q8NH94	OR1L1_HUMAN	G	145;95	ENSP00000362790:S145G;ENSP00000310773:S95G	ENSP00000310773:S95G	S	+	1	0	OR1L1	124464098	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-3.542000	0.00436	-0.119000	0.11830	-0.642000	0.03964	AGT	A|0.860;G|0.140	0.140	strong		0.428	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				G	125424277	A	G	125424277	3	3	22	1	0	0	0	0	1	0	0	0	10963	188	7	3	285	3	OR1L1	9	125424277	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113	125424277	15789154	5346	10454										
OR1L1	26737	hgsc.bcm.edu	37	chr9	125424507	125424507	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctcatcttctgtgcctcAaatgtcatccatcacttttt	4	13	6	0	rs70156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125424507A>C	ENST00000373686.1	+	1	663	c.663A>C	c.(661-663)tcA>tcC	p.S221S	OR1L1_ENST00000309623.1_Silent_p.S171S			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCTGTGCCTCAAATGTCATCC	0.438													.|||	2253	0.44988	0.7292	0.3213	5008	,	,		25158	0.5089		0.2147	False		,,,				2504	0.3446				p.S171S		Atlas-SNP	.											.	OR1L1	54	.	0			c.A513C						PASS	.	C		2877,1529	484.2+/-360.0	940,997,266	315	287	297		513	-1	0	9	dbSNP_79	297	1710,6890	737.8+/-407.0	179,1352,2769	no	coding-synonymous	OR1L1	NM_001005236.3		1119,2349,3035	CC,CA,AA		19.8837,34.7027,35.2683		171/311	125424507	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	26737	exon1			TGCCTCAAATGTC		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.663A>C	9.37:g.125424507A>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	196	125	0.637755	NM_001005236	Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37																																																																																				A|0.606;C|0.394	0.394	strong		0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				C	125424507	A	C	125424507	2	2	22	1	0	0	0	0	0	0	0	1	10963	117	5	5		5	OR1L1	9	125424507	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	230	125424507	15788924	5347	10455										
OR1L3	26735	hgsc.bcm.edu	37	chr9	125437725	125437725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagatgtatttcttcctggTttttggaaacatagatagtt	8	5	1	2	rs16912096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125437725T>C	ENST00000304820.2	+	1	411	c.317T>C	c.(316-318)gTt>gCt	p.V106A		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	106			V -> A (in dbSNP:rs16912096).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TTCTTCCTGGTTTTTGGAAAC	0.423													T|||	397	0.0792732	0.2224	0.0231	5008	,	,		22639	0.0734		0.001	False		,,,				2504	0.0123				p.V106A		Atlas-SNP	.											OR1L3,NS,carcinoma,+1,1	OR1L3	51	1	0			c.T317C						PASS	.	T	ALA/VAL	812,3594	326.4+/-299.6	77,658,1468	151	154	153		317	-0.3	0.2	9	dbSNP_123	153	12,8588	7.1+/-27.0	0,12,4288	yes	missense	OR1L3	NM_001005234.1	64	77,670,5756	CC,CT,TT		0.1395,18.4294,6.3355	benign	106/325	125437725	824,12182	2203	4300	6503	SO:0001583	missense	26735	exon1			TCCTGGTTTTTGG		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"GPCR / Class A : Olfactory receptors"	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.317T>C	9.37:g.125437725T>C	ENSP00000302863:p.Val106Ala	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	136	136	1	NM_001005234	B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	CCDS35128.1	148	0.06776556776556776	92	0.18699186991869918	7	0.019337016574585635	48	0.08391608391608392	1	0.0013192612137203166	T	0.284	-0.984222	0.02180	0.184294	0.001395	ENSG00000171481	ENST00000304820	T	0.00333	8.07	4.54	-0.329	0.12686	GPCR, rhodopsin-like superfamily (1);	0.474644	0.15407	U	0.263970	T	0.00012	0.0000	N	0.00855	-1.145	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.00107	-1.2052	9	0.13853	T	0.58	-4.8218	8.9232	0.35623	0.0:0.4499:0.0:0.5501	rs16912096;rs16912096	106	Q8NH93	OR1L3_HUMAN	A	106	ENSP00000302863:V106A	ENSP00000302863:V106A	V	+	2	0	OR1L3	124477546	0.000000	0.05858	0.231000	0.23993	0.948000	0.59901	-0.588000	0.05774	0.065000	0.16485	-0.308000	0.09152	GTT	T|0.931;C|0.069	0.069	strong		0.423	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			C	125437725	T	C	125437725	3	2	22	1	0	0	0	0	1	0	0	0	10964	1725	60	2	319	2	OR1L3	9	125437725	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13218	125437725	15775706	5348	10456										
OR1L3	26735	hgsc.bcm.edu	37	chr9	125437769	125437769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggcggctatggccatcAaccgctgtgtagccatttgt	11	12	1	0	rs16912099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:125437769A>G	ENST00000304820.2	+	1	455	c.361A>G	c.(361-363)Aac>Gac	p.N121D		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	121			N -> D (in dbSNP:rs16912099).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TATGGCCATCAACCGCTGTGT	0.428													G|||	684	0.136581	0.4327	0.0331	5008	,	,		21908	0.0734		0.002	False		,,,				2504	0.0133				p.N121D		Atlas-SNP	.											.	OR1L3	51	.	0			c.A361G						PASS	.	G	ASP/ASN	1614,2792	662.4+/-401.0	291,1032,880	169	162	165		361	4.5	0.9	9	dbSNP_123	165	12,8588	818.8+/-406.8	0,12,4288	yes	missense	OR1L3	NM_001005234.1	23	291,1044,5168	GG,GA,AA		0.1395,36.6319,12.5019	benign	121/325	125437769	1626,11380	2203	4300	6503	SO:0001583	missense	26735	exon1			GCCATCAACCGCT		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"GPCR / Class A : Olfactory receptors"	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.361A>G	9.37:g.125437769A>G	ENSP00000302863:p.Asn121Asp	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	188	188	1	NM_001005234	B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	CCDS35128.1	251	0.11492673992673992	190	0.3861788617886179	11	0.03038674033149171	48	0.08391608391608392	2	0.002638522427440633	G	2.296	-0.361332	0.05103	0.366319	0.001395	ENSG00000171481	ENST00000304820	T	0.00374	7.72	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	N	0.000747	T	0.00012	0.0000	N	0.00001	-3.775	0.40266	P	0.021765000000000034	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	9	0.02654	T	1	-4.8376	12.2785	0.54751	0.0841:0.0:0.9159:0.0	rs16912099;rs57092164;rs16912099	121	Q8NH93	OR1L3_HUMAN	D	121	ENSP00000302863:N121D	ENSP00000302863:N121D	N	+	1	0	OR1L3	124477590	1.000000	0.71417	0.915000	0.36163	0.122000	0.20287	7.536000	0.82023	1.312000	0.45043	-0.131000	0.14894	AAC	A|0.868;G|0.132	0.132	strong		0.428	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			G	125437769	A	G	125437769	3	3	22	1	0	0	0	0	1	0	0	0	10964	130	5	2	363	2	OR1L3	9	125437769	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44	125437769	15775662	5349	10457										
CRB2	286204	hgsc.bcm.edu	37	chr9	126133252	126133252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatagaggtcccacgtgCgctgatggtgaggaataagc	13	11	0	3	rs55965026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:126133252C>T	ENST00000373631.3	+	7	1921	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	CRB2_ENST00000359999.3_Silent_p.C640C|CRB2_ENST00000373629.2_Silent_p.C308C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	640	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTCCCACGTGCGCTGATGGTG	0.617													C|||	160	0.0319489	0.0893	0.0159	5008	,	,		19920	0.0		0.0229	False		,,,				2504	0.0082				p.C640C		Atlas-SNP	.											.	CRB2	86	.	0			c.C1920T						PASS	.	C		332,4074	168.3+/-199.2	12,308,1883	56	61	59		1920	-3.2	0.1	9	dbSNP_129	59	257,8343	97.9+/-159.5	8,241,4051	no	coding-synonymous	CRB2	NM_173689.5		20,549,5934	TT,TC,CC		2.9884,7.5352,4.5287		640/1286	126133252	589,12417	2203	4300	6503	SO:0001819	synonymous_variant	286204	exon7			CACGTGCGCTGAT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1920C>T	9.37:g.126133252C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	33	0.647059	NM_173689	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			C|0.962;T|0.038	0.038	strong		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126133252	C	T	126133252	2	4	22	1	0	0	0	0	0	0	0	1	3849	776	27	1		1	CRB2	9	126133252	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	695483	126133252	15080179	5350	10458										
NR5A1	2516	hgsc.bcm.edu	37	chr9	127245070	127245070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgcagcatttcgatgagCaggttgttgcggggcatctc	14	9	1	1	rs79833327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:127245070C>T	ENST00000373588.4	-	7	1549	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	451	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						TTTCGATGAGCAGGTTGTTGC	0.697													C|||	45	0.00898562	0.0333	0.0014	5008	,	,		11167	0.0		0.0	False		,,,				2504	0.0				p.L451L		Atlas-SNP	.											.	NR5A1	32	.	0			c.G1353A						PASS	.	C		214,4188	122.1+/-159.5	5,204,1992	64	45	51		1353	3.9	1	9	dbSNP_131	51	2,8594		0,2,4296	no	coding-synonymous	NR5A1	NM_004959.4		5,206,6288	TT,TC,CC		0.0233,4.8614,1.6618		451/462	127245070	216,12782	2201	4298	6499	SO:0001819	synonymous_variant	2516	exon7			GATGAGCAGGTTG	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.1353G>A	9.37:g.127245070C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	115	42	0.365217	NM_004959	O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	CCDS6856.1																																																																																			C|0.983;T|0.017	0.017	strong		0.697	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127245070	C	T	127245070	2	4	22	1	0	0	0	0	0	0	0	1	10635	697	25	2		2	NR5A1	9	127245070	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1111818	127245070	13968361	5351	10459										
NR5A1	2516	hgsc.bcm.edu	37	chr9	127262864	127262864	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcgggggcacccccatCgggggccctgtctccagctt	16	16	1	0	rs1110062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:127262864C>T	ENST00000373588.4	-	4	571	c.375G>A	c.(373-375)ccG>ccA	p.P125P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	125					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GCACCCCCATCGGGGGCCCTG	0.682													C|||	436	0.0870607	0.3154	0.0245	5008	,	,		12705	0.002		0.0	False		,,,				2504	0.0				p.P125P		Atlas-SNP	.											.	NR5A1	32	.	0			c.G375A						PASS	.	C		1188,3052		158,872,1090	19	22	21		375	-9.1	0	9	dbSNP_86	21	9,8255		0,9,4123	no	coding-synonymous	NR5A1	NM_004959.4		158,881,5213	TT,TC,CC		0.1089,28.0189,9.5729		125/462	127262864	1197,11307	2120	4132	6252	SO:0001819	synonymous_variant	2516	exon4			CCCCATCGGGGGC	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.375G>A	9.37:g.127262864C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_004959	O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	CCDS6856.1																																																																																			C|0.948;T|0.052	0.052	strong		0.682	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127262864	C	T	127262864	2	4	22	1	0	0	0	0	0	0	0	1	10635	871	31	1		1	NR5A1	9	127262864	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17794	127262864	13950567	5352	10460										
WDR38	401551	hgsc.bcm.edu	37	chr9	127616537	127616537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgctcacaggctcagaAgatggctgcgtgtatggctg	14	9	2	2	rs12375547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:127616537A>G	ENST00000373574.1	+	2	179	c.123A>G	c.(121-123)gaA>gaG	p.E41E		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	41					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAGGCTCAGAAGATGGCTGCG	0.612													G|||	2267	0.452676	0.4803	0.3573	5008	,	,		18063	0.5804		0.4324	False		,,,				2504	0.3722				p.K10R		Atlas-SNP	.											.	WDR38	21	.	0			c.A29G						PASS	.	G		1968,2132		475,1018,557	125	134	131		123	-6.9	0.2	9	dbSNP_120	131	3636,4778		832,1972,1403	yes	coding-synonymous	WDR38	NM_001045476.1		1307,2990,1960	GG,GA,AA		43.2137,48.0,44.7818		41/315	127616537	5604,6910	2050	4207	6257	SO:0001819	synonymous_variant	401551	exon2			CTCAGAAGATGGC		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.123A>G	9.37:g.127616537A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	107	79	0.738318	NM_001276376	A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	CCDS43876.1																																																																																			A|0.541;G|0.459	0.459	strong		0.612	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		G	127616537	A	G	127616537	2	3	22	1	0	0	0	0	0	0	0	1	17289	69	3	3		3	WDR38	9	127616537	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	353673	127616537	13596894	5353	10461										
GOLGA1	2800	hgsc.bcm.edu	37	chr9	127661645	127661645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtctggtcagctgcccgcGttctctccagggccactatc	11	15	3	0	rs634710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:127661645G>A	ENST00000373555.4	-	14	1607	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	AL354928.1_ENST00000580940.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	425	Gln-rich.		T -> M (in dbSNP:rs634710). {ECO:0000269|PubMed:15489334}.		protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGCTGCCCGCGTTCTCTCCAG	0.637													G|||	2004	0.40016	0.2965	0.353	5008	,	,		17342	0.5694		0.4254	False		,,,				2504	0.3732				p.T425M		Atlas-SNP	.											.	GOLGA1	60	.	0			c.C1274T						PASS	.	G	MET/THR	1359,2935		238,883,1026	44	36	39		1274	3.5	0	9	dbSNP_83	39	3473,4877		832,1809,1534	yes	missense	GOLGA1	NM_002077.3	81	1070,2692,2560	AA,AG,GG		41.5928,31.6488,38.2158	possibly-damaging	425/768	127661645	4832,7812	2147	4175	6322	SO:0001583	missense	2800	exon14			GCCCGCGTTCTCT	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1274C>T	9.37:g.127661645G>A	ENSP00000362656:p.Thr425Met	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	69	46	0.666667	NM_002077	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	921	0.4217032967032967	150	0.3048780487804878	130	0.35911602209944754	339	0.5926573426573427	302	0.39841688654353563	G	11.28	1.590714	0.28357	0.316488	0.415928	ENSG00000136935	ENST00000373555	T	0.22539	1.95	5.36	3.5	0.40072	.	0.913583	0.09089	U	0.850191	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	D	0.54772	0.968	B	0.35182	0.197	T	0.38693	-0.9649	9	0.51188	T	0.08	-0.0077	7.3442	0.26654	0.0889:0.1684:0.7427:0.0	rs634710;rs3816271;rs16927715;rs17855565;rs52820334;rs56548659;rs58712407;rs634710	425	Q92805	GOGA1_HUMAN	M	425	ENSP00000362656:T425M	ENSP00000362656:T425M	T	-	2	0	GOLGA1	126701466	0.024000	0.19004	0.001000	0.08648	0.002000	0.02628	1.416000	0.34759	0.800000	0.34041	-0.150000	0.13652	ACG	G|0.595;T|0.005	.	strong		0.637	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		A	127661645	G	A	127661645	3	1	22	1	0	0	0	0	1	0	0	0	6551	1145	40	1	1069	1	GOLGA1	9	127661645	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45108	127661645	13551786	5354	10462										
RABEPK	10244	hgsc.bcm.edu	37	chr9	127975654	127975654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaatgttttccaggaaaaCaccagtgggacttagatacc	9	8	0	2	rs1128362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:127975654C>T	ENST00000373538.3	+	4	527	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	RABEPK_ENST00000394124.4_Missense_Mutation_p.H73Y|RABEPK_ENST00000394125.4_Missense_Mutation_p.H73Y|RABEPK_ENST00000373544.1_Missense_Mutation_p.H73Y|RABEPK_ENST00000259460.8_Intron	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	73			H -> Y (in dbSNP:rs16927965). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCCAGGAAAACACCAGTGGGA	0.493													C|||	483	0.0964457	0.118	0.0879	5008	,	,		18384	0.005		0.1362	False		,,,				2504	0.1268				p.H73Y		Atlas-SNP	.											.	RABEPK	46	.	0			c.C217T						PASS	.	C	TYR/HIS,,TYR/HIS	593,3813	259.5+/-263.1	41,511,1651	116	110	112		217,,217	3.6	1	9	dbSNP_123	112	1219,7381	246.7+/-275.0	94,1031,3175	yes	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	83,,83	135,1542,4826	TT,TC,CC		14.1744,13.4589,13.932	probably-damaging,,probably-damaging	73/373,,73/373	127975654	1812,11194	2203	4300	6503	SO:0001583	missense	10244	exon4			GGAAAACACCAGT	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.217C>T	9.37:g.127975654C>T	ENSP00000362639:p.His73Tyr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	77	21	0.272727	NM_005833	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	200	0.09157509157509157	58	0.11788617886178862	40	0.11049723756906077	0	0.0	102	0.1345646437994723	C	11.28	1.592552	0.28357	0.134589	0.141744	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.47	3.63	0.41609	Galactose oxidase, beta-propeller (1);	0.099119	0.64402	D	0.000002	T	0.00178	0.0005	L	0.47716	1.5	0.23425	P	0.99770432	B;P	0.50369	0.014;0.934	B;P	0.50708	0.017;0.648	T	0.07712	-1.0758	9	0.09590	T	0.72	-13.4768	9.2746	0.37692	0.0:0.8267:0.0:0.1733	rs16927965;rs17252930;rs17849327;rs52838209;rs16927965	73;73	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	Y	73;73;73;73;156	ENSP00000377683:H73Y;ENSP00000362645:H73Y;ENSP00000377682:H73Y;ENSP00000362639:H73Y;ENSP00000402234:H156Y	ENSP00000362639:H73Y	H	+	1	0	RABEPK	127015475	0.968000	0.33430	1.000000	0.80357	0.890000	0.51754	2.254000	0.43214	1.330000	0.45394	-0.218000	0.12543	CAC	C|0.880;T|0.120	0.120	strong		0.493	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		T	127975654	C	T	127975654	3	4	22	1	0	0	0	0	1	0	0	0	12963	478	17	2	227	2	RABEPK	9	127975654	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	314009	127975654	13237777	5355	10463										
GAPVD1	26130	hgsc.bcm.edu	37	chr9	128099784	128099784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagagcgagaactccctCcagctgcagccattggtgct	11	12	0	3	rs62637637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:128099784C>T	ENST00000495955.1	+	17	3081	c.2791C>T	c.(2791-2793)Cca>Tca	p.P931S	GAPVD1_ENST00000297933.6_Missense_Mutation_p.P931S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P910S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P905S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P910S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P958S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P931S|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P931S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	931				P -> S (in Ref. 6; AAH13635). {ECO:0000305}.	endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAACTCCCTCCAGCTGCAGC	0.532													C|||	30	0.00599042	0.0219	0.0014	5008	,	,		18533	0.0		0.0	False		,,,				2504	0.0				p.P958S		Atlas-SNP	.											.	GAPVD1	124	.	0			c.C2872T						PASS	.	C	SER/PRO	68,4338	62.9+/-100.1	1,66,2136	70	69	70		2872	5.3	0.9	9	dbSNP_129	70	0,8600		0,0,4300	yes	missense	GAPVD1	NM_015635.2	74	1,66,6436	TT,TC,CC		0.0,1.5433,0.5228	benign	958/1488	128099784	68,12938	2203	4300	6503	SO:0001583	missense	26130	exon16			CTCCCTCCAGCTG		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2791C>T	9.37:g.128099784C>T	ENSP00000419063:p.Pro931Ser	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	136	33	0.242647	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		14|14	0.00641025641025641|0.00641025641025641	13|13	0.026422764227642278|0.026422764227642278	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.329|8.329	0.826071|0.826071	0.16749|0.16749	0.015433|0.015433	0.0|0.0	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.	.|.	.|.	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	0.267957|.	0.43416|.	D|.	0.000568|.	T|T	0.15955|0.15955	0.0384|0.0384	N|N	0.19112|0.19112	0.55|0.55	0.32006|0.32006	N|N	0.602735|0.602735	B;B;B;B;B;B|.	0.15930|.	0.002;0.002;0.001;0.001;0.001;0.015|.	B;B;B;B;B;B|.	0.12837|.	0.006;0.004;0.004;0.004;0.004;0.008|.	T|T	0.35895|0.35895	-0.9770|-0.9770	9|5	0.15066|.	T|.	0.55|.	.|.	11.4079|11.4079	0.49908|0.49908	0.1307:0.6166:0.2527:0.0|0.1307:0.6166:0.2527:0.0	rs62637637|rs62637637	905;931;931;910;931;958|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	S|F	931;958;931;905;910;931;931;931;910|767	.|.	ENSP00000265956:P905S|.	P|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127139605|127139605	0.914000|0.914000	0.31030|0.31030	0.948000|0.948000	0.38648|0.38648	0.162000|0.162000	0.22319|0.22319	2.148000|2.148000	0.42235|0.42235	1.586000|1.586000	0.49944|0.49944	0.655000|0.655000	0.94253|0.94253	CCA|TCC	C|0.993;T|0.007	0.007	strong		0.532	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			T	128099784	C	T	128099784	3	4	22	1	0	0	0	0	1	0	0	0	6239	855	30	2	2930	2	GAPVD1	9	128099784	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124130	128099784	13113647	5356	10464										
MAPKAP1	79109	hgsc.bcm.edu	37	chr9	128206855	128206855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtcgtgattgcttagataCgtgagtttaaatattgcgtg	11	4	0	3	rs35549826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:128206855C>T	ENST00000373498.1	-	10	1436	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	MAPKAP1_ENST00000394063.1_Silent_p.T264T|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373497.5_Silent_p.T169T|MAPKAP1_ENST00000265960.3_Silent_p.T456T|MAPKAP1_ENST00000350766.3_Silent_p.T420T|MAPKAP1_ENST00000373511.2_Silent_p.T409T|MAPKAP1_ENST00000373503.3_Silent_p.T264T			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	456					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 Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGCTTAGATACGTGAGTTTAA	0.453													c|||	29	0.00579073	0.0212	0.0014	5008	,	,		20762	0.0		0.0	False		,,,				2504	0.0				p.T456T		Atlas-SNP	.											MAPKAP1_ENST00000265960,NS,carcinoma,-1,4	MAPKAP1	68	4	0			c.G1368A						scavenged	.	T	,,,,	63,4343	59.9+/-96.7	1,61,2141	167	147	154		1368,1227,792,792,1260	-6.7	0.7	9	dbSNP_126	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPKAP1	NM_001006617.1,NM_001006619.1,NM_001006620.1,NM_001006621.1,NM_024117.3	,,,,	1,62,6440	TT,TC,CC		0.0116,1.4299,0.4921	,,,,	456/523,409/476,264/331,264/331,420/487	128206855	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	79109	exon11			TAGATACGTGAGT	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1368G>A	9.37:g.128206855C>T		Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	166	67	0.403614	NM_001006617	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	CCDS35140.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	c	4.720	0.133973	0.09032	0.014299	1.16E-4	ENSG00000119487	ENST00000444226	.	.	.	5.91	-6.66	0.01789	.	.	.	.	.	T	0.34948	0.0915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53457	-0.8436	4	.	.	.	-6.8579	10.2871	0.43573	0.0:0.2969:0.167:0.5361	rs35549826	.	.	.	I	28	.	.	V	-	1	0	MAPKAP1	127246676	0.012000	0.17670	0.657000	0.29651	0.643000	0.38383	-1.022000	0.03611	-1.316000	0.02295	-4.302000	0.00007	GTA	C|0.994;T|0.006	0.006	strong		0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			T	128206855	C	T	128206855	2	4	22	1	0	0	0	0	0	0	0	1	9288	523	19	1		1	MAPKAP1	9	128206855	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107071	128206855	13006576	5357	10465										
SLC2A8	29988	hgsc.bcm.edu	37	chr9	130162230	130162230	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcagtccgggggttgctCggctcctgtgtgcagctaat	14	12	0	0	rs36057295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130162230C>G	ENST00000373371.3	+	4	560	c.471C>G	c.(469-471)ctC>ctG	p.L157L	SLC2A8_ENST00000373352.1_5'UTR|SLC2A8_ENST00000373360.3_Silent_p.L157L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	157					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GGGGGTTGCTCGGCTCCTGTG	0.557													C|||	130	0.0259585	0.0968	0.0029	5008	,	,		17695	0.0		0.0	False		,,,				2504	0.0				p.L157L		Atlas-SNP	.											.	SLC2A8	27	.	0			c.C471G						PASS	.	C		315,4091	169.1+/-199.8	9,297,1897	137	134	135		471	-5.9	1	9	dbSNP_126	135	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC2A8	NM_014580.3		9,299,6195	GG,GC,CC		0.0233,7.1493,2.4373		157/478	130162230	317,12689	2203	4300	6503	SO:0001819	synonymous_variant	29988	exon4			GTTGCTCGGCTCC	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.471C>G	9.37:g.130162230C>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	108	32	0.296296	NM_014580	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1	38	0.0173992673992674	37	0.07520325203252033	1	0.0027624309392265192	0	0.0	0	0.0	C	1.094	-0.663174	0.03428	0.071493	2.33E-4	ENSG00000136856	ENST00000419132	.	.	.	5.35	-5.92	0.02261	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	.	7.9566	0.30047	0.0948:0.1228:0.603:0.1794	rs36057295	.	.	.	W	67	.	.	S	+	2	0	SLC2A8	129202051	0.005000	0.15991	0.967000	0.41034	0.066000	0.16364	-2.012000	0.01451	-0.659000	0.05359	-0.302000	0.09304	TCG	C|0.975;G|0.025	0.025	strong		0.557	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		G	130162230	C	G	130162230	2	3	22	1	0	0	0	0	0	0	0	1	14551	871	31	4		4	SLC2A8	9	130162230	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1955375	130162230	11051201	5358	10466										
LRSAM1	90678	hgsc.bcm.edu	37	chr9	130263362	130263362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgagtctgtgaggccatcCgctccccctgcagagctgga	12	15	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130263362C>T	ENST00000323301.4	+	24	2590	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	LRSAM1_ENST00000300417.6_Silent_p.S662S|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.S662S|LRSAM1_ENST00000373324.4_Silent_p.S635S	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	662					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGAGGCCATCCGCTCCCCCTG	0.662																																					p.S662S		Atlas-SNP	.											.	LRSAM1	40	.	0			c.C1986T						PASS	.						57	55	56					9																	130263362		2203	4300	6503	SO:0001819	synonymous_variant	90678	exon25			GCCATCCGCTCCC	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1986C>T	9.37:g.130263362C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_001005373	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																			.	.	none		0.662	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		T	130263362	C	T	130263362	2	4	22	1	0	0	0	0	0	0	0	1	9043	639	23	1		1	LRSAM1	9	130263362	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101132	130263362	10950069	5359	10467										
TTC16	158248	hgsc.bcm.edu	37	chr9	130485476	130485476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccaggatgctgctccagAagatggtggcccaggcccag	15	12	0	2	rs115363266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130485476A>C	ENST00000373289.3	+	7	816	c.736A>C	c.(736-738)Aag>Cag	p.K246Q	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.K70Q|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	246										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCTGCTCCAGAAGATGGTGGC	0.662													A|||	136	0.0271565	0.0983	0.0086	5008	,	,		19586	0.0		0.0	False		,,,				2504	0.0				p.K246Q		Atlas-SNP	.											.	TTC16	55	.	0			c.A736C						PASS	.	A	GLN/LYS	459,3947	211.5+/-231.7	30,399,1774	55	56	55		736	0.1	0.1	9	dbSNP_132	55	0,8600		0,0,4300	yes	missense	TTC16	NM_144965.1	53	30,399,6074	CC,CA,AA		0.0,10.4176,3.5291	benign	246/874	130485476	459,12547	2203	4300	6503	SO:0001583	missense	158248	exon7			CTCCAGAAGATGG	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.736A>C	9.37:g.130485476A>C	ENSP00000362386:p.Lys246Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	100	62	0.62	NM_144965	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	69|69	0.03159340659340659|0.03159340659340659	66|66	0.13414634146341464|0.13414634146341464	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	A|A	7.212|7.212	0.595622|0.595622	0.13875|0.13875	0.104176|0.104176	0.0|0.0	ENSG00000167094|ENSG00000167094	ENST00000373288|ENST00000373289;ENST00000393748;ENST00000316259	.|T	.|0.54866	.|0.55	5.08|5.08	0.119|0.119	0.14685|0.14685	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|1.102050	.|0.06828	.|N	.|0.793373	T|T	0.00637|0.00637	0.0021|0.0021	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	.|P;B;P	.|0.51351	.|0.944;0.022;0.944	.|B;B;B	.|0.44044	.|0.439;0.013;0.439	T|T	0.02491|0.02491	-1.1151|-1.1151	6|10	0.87932|0.46703	D|T	0|0.11	-1.776|-1.776	7.3747|7.3747	0.26821|0.26821	0.6016:0.0:0.3984:0.0|0.6016:0.0:0.3984:0.0	.|.	.|233;198;246	.|B4DZ42;B4DH05;Q8NEE8	.|.;.;TTC16_HUMAN	A|Q	71|246;70;191	.|ENSP00000362386:K246Q	ENSP00000362385:E71A|ENSP00000319048:K191Q	E|K	+|+	2|1	0|0	TTC16|TTC16	129525297|129525297	0.005000|0.005000	0.15991|0.15991	0.113000|0.113000	0.21522|0.21522	0.358000|0.358000	0.29455|0.29455	0.441000|0.441000	0.21611|0.21611	-0.113000|-0.113000	0.11958|0.11958	0.374000|0.374000	0.22700|0.22700	GAA|AAG	A|0.962;C|0.038	0.038	strong		0.662	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		C	130485476	A	C	130485476	3	2	22	1	0	0	0	0	1	0	0	0	16680	247	9	5	762	5	TTC16	9	130485476	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	222114	130485476	10727955	5360	10468										
ENG	2022	hgsc.bcm.edu	37	chr9	130616621	130616621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcaacagccagagggagcGtgccgcggtccatgctgtcc	16	13	0	1	rs35400405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130616621G>A	ENST00000373203.4	-	1	414	c.14C>T	c.(13-15)aCg>aTg	p.T5M	ENG_ENST00000344849.3_Missense_Mutation_p.T5M	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	5			T -> M (in dbSNP:rs35400405). {ECO:0000269|PubMed:9245986}.		artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGAGGGAGCGTGCCGCGGTC	0.721									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				g|||	204	0.0407348	0.1256	0.0231	5008	,	,		13491	0.0		0.0199	False		,,,				2504	0.002				p.T5M		Atlas-SNP	.											.	ENG	44	.	0			c.C14T	GRCh37	CM004889	ENG	M	rs35400405	PASS	.		MET/THR,MET/THR	445,3945		20,405,1770	33	35	34		14,14	0.1	0	9	dbSNP_126	34	196,8378		4,188,4095	yes	missense,missense	ENG	NM_000118.2,NM_001114753.1	81,81	24,593,5865	AA,AG,GG		2.286,10.1367,4.9445	possibly-damaging,possibly-damaging	5/626,5/659	130616621	641,12323	2195	4287	6482	SO:0001583	missense	2022	exon1	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	GGGAGCGTGCCGC	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.14C>T	9.37:g.130616621G>A	ENSP00000362299:p.Thr5Met	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	129	86	0.666667	NM_001114753	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	CCDS48029.1	91	0.041666666666666664	66	0.13414634146341464	10	0.027624309392265192	0	0.0	15	0.01978891820580475	G	3.401	-0.122326	0.06795	0.101367	0.02286	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.42900	0.96;1.54	5.27	0.0968	0.14491	.	1.824350	0.02663	N	0.107751	T	0.00271	0.0008	N	0.08118	0	0.58432	P	4.000000000004E-6	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.11324	-1.0592	9	0.39692	T	0.17	-15.5952	8.2349	0.31620	0.4735:0.0:0.5265:0.0	rs35400405	5;5	Q5T9B9;P17813	.;EGLN_HUMAN	M	5	ENSP00000362299:T5M;ENSP00000341917:T5M	ENSP00000341917:T5M	T	-	2	0	ENG	129656442	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.362000	0.07602	0.037000	0.15575	-0.265000	0.10407	ACG	G|0.950;A|0.050	0.050	strong		0.721	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			A	130616621	G	A	130616621	3	1	22	1	0	0	0	0	1	0	0	0	5117	1145	40	1	2048	1	ENG	9	130616621	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131145	130616621	10596810	5361	10469										
CIZ1	25792	hgsc.bcm.edu	37	chr9	130938650	130938650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcctctgtctccaggacGtcccggggcacgggcagcag	13	15	3	0	rs45475893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130938650G>A	ENST00000393608.1	-	11	2125	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	CIZ1_ENST00000538431.1_Silent_p.D641D|CIZ1_ENST00000325721.8_Silent_p.D612D|CIZ1_ENST00000372948.3_Silent_p.D585D|CIZ1_ENST00000372954.1_Silent_p.D561D|CIZ1_ENST00000541172.1_Silent_p.D540D|CIZ1_ENST00000277465.4_Silent_p.D613D|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372938.5_Silent_p.D641D|CIZ1_ENST00000357558.5_Silent_p.D613D	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	641					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCTCCAGGACGTCCCGGGGCA	0.637													G|||	22	0.00439297	0.0151	0.0029	5008	,	,		19335	0.0		0.0	False		,,,				2504	0.0				p.D671D		Atlas-SNP	.											.	CIZ1	75	.	0			c.C2013T						PASS	.	G	,,,,	75,4331	67.0+/-104.6	0,75,2128	98	103	101		1755,1923,1740,1683,1923	-8.3	0	9	dbSNP_127	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,76,6427	AA,AG,GG		0.0116,1.7022,0.5843	,,,,	585/843,641/899,580/838,561/819,641/899	130938650	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	25792	exon11			CAGGACGTCCCGG	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1923C>T	9.37:g.130938650G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	119	86	0.722689	NM_001257975	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	CCDS6894.1																																																																																			G|0.994;A|0.006	0.006	strong		0.637	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		A	130938650	G	A	130938650	2	1	22	1	0	0	0	0	0	0	0	1	3441	1136	40	1		1	CIZ1	9	130938650	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	322029	130938650	10274781	5362	10470										
CIZ1	25792	hgsc.bcm.edu	37	chr9	130941451	130941451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggagaggtctgtgtttgCgcctgcttctgcagctttgg	14	9	3	1	rs45536439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130941451C>T	ENST00000393608.1	-	8	1237	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	CIZ1_ENST00000357558.5_Silent_p.A345A|CIZ1_ENST00000325721.8_Silent_p.A316A|CIZ1_ENST00000277465.4_Silent_p.A345A|CIZ1_ENST00000372954.1_Silent_p.A321A|CIZ1_ENST00000372938.5_Silent_p.A345A|CIZ1_ENST00000372948.3_Silent_p.A345A|CIZ1_ENST00000541172.1_Silent_p.A244A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Silent_p.A345A	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	345	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCTGTGTTTGCGCCTGCTTCT	0.617													C|||	174	0.0347444	0.1225	0.0159	5008	,	,		20540	0.0		0.001	False		,,,				2504	0.0				p.A375A		Atlas-SNP	.											.	CIZ1	75	.	0			c.G1125A						PASS	.	C	,,,,	553,3853	248.7+/-256.4	38,477,1688	63	64	64		1035,1035,1020,963,1035	-5.6	0.9	9	dbSNP_127	64	13,8587	7.7+/-29.5	0,13,4287	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	38,490,5975	TT,TC,CC		0.1512,12.5511,4.3518	,,,,	345/843,345/899,340/838,321/819,345/899	130941451	566,12440	2203	4300	6503	SO:0001819	synonymous_variant	25792	exon8			TGTTTGCGCCTGC	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1035G>A	9.37:g.130941451C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	118	70	0.59322	NM_001257975	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	CCDS6894.1																																																																																			C|0.961;T|0.039	0.039	strong		0.617	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		T	130941451	C	T	130941451	2	4	22	1	0	0	0	0	0	0	0	1	3441	755	27	1		1	CIZ1	9	130941451	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2801	130941451	10271980	5363	10471										
CIZ1	25792	hgsc.bcm.edu	37	chr9	130948018	130948018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtgaggctgggggctgcGaggcctggggatgccatgcc	21	9	0	1	rs45545033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:130948018G>A	ENST00000393608.1	-	5	598	c.396C>T	c.(394-396)ctC>ctT	p.L132L	CIZ1_ENST00000325721.8_Silent_p.L108L|CIZ1_ENST00000372948.3_Silent_p.L132L|CIZ1_ENST00000372954.1_Silent_p.L108L|CIZ1_ENST00000541172.1_Silent_p.L31L|CIZ1_ENST00000277465.4_Silent_p.L132L|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_Silent_p.L132L|CIZ1_ENST00000372938.5_Silent_p.L132L|CIZ1_ENST00000357558.5_Silent_p.L132L	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	132					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGGGGGCTGCGAGGCCTGGGG	0.602													G|||	162	0.0323482	0.1165	0.0115	5008	,	,		16972	0.0		0.0	False		,,,				2504	0.0				p.L162L		Atlas-SNP	.											.	CIZ1	75	.	0			c.C486T						PASS	.	G	,,,,	520,3886	238.4+/-249.8	36,448,1719	38	38	38		396,396,396,324,396	0.2	0	9	dbSNP_127	38	8,8592	3.7+/-12.6	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	36,456,6011	AA,AG,GG		0.093,11.8021,4.0597	,,,,	132/843,132/899,132/838,108/819,132/899	130948018	528,12478	2203	4300	6503	SO:0001819	synonymous_variant	25792	exon5			GGCTGCGAGGCCT	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.396C>T	9.37:g.130948018G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	63	43	0.68254	NM_001257975	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	CCDS6894.1																																																																																			G|0.962;A|0.038	0.038	strong		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		A	130948018	G	A	130948018	2	1	22	1	0	0	0	0	0	0	0	1	3441	1045	37	1		1	CIZ1	9	130948018	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6567	130948018	10265413	5364	10472										
COQ4	51117	hgsc.bcm.edu	37	chr9	131088076	131088076	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggagcgtccccggatttcGacatccaccctcgacctggg	12	15	0	0	rs2270203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131088076G>A	ENST00000300452.3	+	4	641	c.318G>A	c.(316-318)tcG>tcA	p.S106S	COQ4_ENST00000372875.3_Silent_p.S106S	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						CCCGGATTTCGACATCCACCC	0.602													G|||	668	0.133387	0.2065	0.0677	5008	,	,		21989	0.1935		0.0467	False		,,,				2504	0.1084				p.S106S		Atlas-SNP	.											.	COQ4	20	.	0			c.G318A						PASS	.	G		845,3561	334.1+/-303.3	75,695,1433	89	80	83		318	-4.7	0.3	9	dbSNP_100	83	358,8242	120.6+/-179.8	7,344,3949	no	coding-synonymous	COQ4	NM_016035.3		82,1039,5382	AA,AG,GG		4.1628,19.1784,9.2496		106/266	131088076	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	51117	exon4			GATTTCGACATCC	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.318G>A	9.37:g.131088076G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	146	55	0.376712	NM_016035		Silent	SNP	ENST00000300452.3	37	CCDS6898.1																																																																																			G|0.891;A|0.109	0.109	strong		0.602	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		A	131088076	G	A	131088076	2	1	22	1	0	0	0	0	0	0	0	1	3747	1045	37	1		1	COQ4	9	131088076	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	140058	131088076	10125355	5365	10473										
CERCAM	51148	hgsc.bcm.edu	37	chr9	131196704	131196704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacagctacctcggacggaaGcaggtgaaccctgagaagga	13	10	0	2	rs7259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131196704G>A	ENST00000372838.4	+	11	1745	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	CERCAM_ENST00000372842.1_Silent_p.K371K|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	449					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCGGACGGAAGCAGGTGAACC	0.662													G|||	1884	0.376198	0.6604	0.2089	5008	,	,		16087	0.4048		0.2117	False		,,,				2504	0.2505				p.K449K		Atlas-SNP	.											.	CERCAM	104	.	0			c.G1347A						PASS	.	G		2657,1749	623.6+/-394.2	814,1029,360	43	49	47		1347	3.4	1	9	dbSNP_52	47	1567,7033	281.2+/-294.9	134,1299,2867	no	coding-synonymous	CERCAM	NM_016174.4		948,2328,3227	AA,AG,GG		18.2209,39.6959,32.4773		449/596	131196704	4224,8782	2203	4300	6503	SO:0001819	synonymous_variant	51148	exon11			ACGGAAGCAGGTG	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1347G>A	9.37:g.131196704G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_016174	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	CCDS6901.2																																																																																			G|0.673;A|0.327	0.327	strong		0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		A	131196704	G	A	131196704	2	1	22	1	0	0	0	0	0	0	0	1	3266	962	34	2		2	CERCAM	9	131196704	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108628	131196704	10016727	5366	10474										
ODF2	4957	hgsc.bcm.edu	37	chr9	131260808	131260808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaacacgggaatgtgggaCcctggcaaggcagttggaga	16	7	0	1	rs16930426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131260808C>G	ENST00000434106.3	+	19	2492	c.2129C>G	c.(2128-2130)aCc>aGc	p.T710S	ODF2_ENST00000604420.1_Missense_Mutation_p.T710S|ODF2_ENST00000351030.3_Missense_Mutation_p.T705S|ODF2_ENST00000372807.5_Missense_Mutation_p.T705S|ODF2_ENST00000393527.3_Missense_Mutation_p.T686S|ODF2_ENST00000444119.2_Missense_Mutation_p.T686S	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	710			T -> S (in dbSNP:rs16930426).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGTGGGACCctggcaagg	0.542													C|||	106	0.0211661	0.0749	0.0086	5008	,	,		20036	0.0		0.001	False		,,,				2504	0.0				p.T774S		Atlas-SNP	.											.	ODF2	227	.	0			c.C2321G						PASS	.	C	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	330,4076	173.0+/-202.9	15,300,1888	73	62	66		2114,2129,2057,2129,2321	3.8	0.3	9	dbSNP_123	66	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense,missense,missense	ODF2	NM_001242352.1,NM_001242353.1,NM_002540.4,NM_153433.1,NM_153435.1	58,58,58,58,58	15,304,6184	GG,GC,CC		0.0465,7.4898,2.568	benign,benign,benign,benign,benign	705/825,710/830,686/806,710/830,774/894	131260808	334,12672	2203	4300	6503	SO:0001583	missense	4957	exon19			GTGGGACCCTGGC	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2129C>G	9.37:g.131260808C>G	ENSP00000403453:p.Thr710Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	117	76	0.649573	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	45	0.020604395604395604	41	0.08333333333333333	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	9.645	1.139924	0.21205	0.074898	4.65E-4	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.20069	2.1;2.11;2.1	5.67	3.8	0.43715	.	1.035180	0.07583	N	0.920674	T	0.00468	0.0015	N	0.01576	-0.805	0.25699	N	0.985609	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	0.09997	-1.0649	10	0.05721	T	0.95	-0.0175	15.5266	0.75915	0.0:0.6681:0.3319:0.0	rs16930426;rs52827709;rs16930426	705;55;710;686	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	S	705;710;686	ENSP00000342581:T705S;ENSP00000361882:T710S;ENSP00000307781:T686S	ENSP00000307781:T686S	T	+	2	0	ODF2	130300629	0.000000	0.05858	0.265000	0.24526	0.689000	0.40095	0.677000	0.25262	0.685000	0.31468	-0.211000	0.12701	ACC	C|0.971;G|0.029	0.029	strong		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131260808	C	G	131260808	3	3	22	1	0	0	0	0	1	0	0	0	10827	507	18	4	2317	4	ODF2	9	131260808	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64104	131260808	9952623	5367	10475										
SPTAN1	6709	hgsc.bcm.edu	37	chr9	131362361	131362361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctctttctttgaataggaTgaaactgattccaagacagc	7	9	2	4	rs945831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131362361T>C	ENST00000372731.4	+	27	3656	c.3546T>C	c.(3544-3546)gaT>gaC	p.D1182D	SPTAN1_ENST00000358161.5_Silent_p.D1182D|SPTAN1_ENST00000372739.3_Silent_p.D1182D	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1182					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGAATAGGATGAAACTGATT	0.433													T|||	175	0.0349441	0.1263	0.0115	5008	,	,		18973	0.0		0.0	False		,,,				2504	0.0				p.D1182D	NSCLC(120;833 1744 2558 35612 37579)	Atlas-SNP	.											.	SPTAN1	266	.	0			c.T3546C						PASS	.	T	,,	478,3928	223.3+/-239.8	28,422,1753	124	113	117		3546,3486,3546	6.1	1	9	dbSNP_86	117	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	28,430,6045	CC,CT,TT		0.093,10.8488,3.7367	,,	1182/2478,1162/2453,1182/2473	131362361	486,12520	2203	4300	6503	SO:0001819	synonymous_variant	6709	exon27			ATAGGATGAAACT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3546T>C	9.37:g.131362361T>C		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	229	93	0.406114	NM_003127	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																			T|0.963;C|0.037	0.037	strong		0.433	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131362361	T	C	131362361	2	2	22	1	0	0	0	0	0	0	0	1	15116	1461	51	2		2	SPTAN1	9	131362361	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	101553	131362361	9851070	5368	10476										
SPTAN1	6709	hgsc.bcm.edu	37	chr9	131395568	131395568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggccgcgagctccccacCgcgttcgactacgtggagtt	13	14	0	0	rs2228952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131395568C>T	ENST00000372731.4	+	56	7484	c.7374C>T	c.(7372-7374)acC>acT	p.T2458T	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Silent_p.T2463T|SPTAN1_ENST00000358161.5_Silent_p.T2463T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2458					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTCCCCACCGCGTTCGACT	0.632													C|||	116	0.0231629	0.0817	0.0101	5008	,	,		17940	0.0		0.001	False		,,,				2504	0.0				p.T2463T	NSCLC(120;833 1744 2558 35612 37579)	Atlas-SNP	.											.	SPTAN1	266	.	0			c.C7389T						PASS	.	C	,,	348,4058	182.9+/-210.6	11,326,1866	83	72	76		7389,7314,7374	-10.7	0	9	dbSNP_98	76	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	11,331,6161	TT,TC,CC		0.0581,7.8983,2.7141	,,	2463/2478,2438/2453,2458/2473	131395568	353,12653	2203	4300	6503	SO:0001819	synonymous_variant	6709	exon57			CCCCACCGCGTTC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7374C>T	9.37:g.131395568C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	77	52	0.675325	NM_001130438	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																			C|0.967;T|0.033	0.033	strong		0.632	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131395568	C	T	131395568	2	4	22	1	0	0	0	0	0	0	0	1	15116	639	23	1		1	SPTAN1	9	131395568	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33207	131395568	9817863	5369	10477										
WDR34	89891	hgsc.bcm.edu	37	chr9	131398633	131398633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggacctccaccacggccgaCggctgctggggacgcaggtc	16	15	0	0	rs61744155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131398633C>T	ENST00000372715.2	-	4	690	c.630G>A	c.(628-630)ccG>ccA	p.P210P	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	210						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCACGGCCGACGGCTGCTGGG	0.682													C|||	77	0.0153754	0.056	0.0043	5008	,	,		16542	0.0		0.0	False		,,,				2504	0.0				p.P210P		Atlas-SNP	.											.	WDR34	29	.	0			c.G630A						PASS	.	C		252,4150	136.5+/-172.5	10,232,1959	56	49	51		630	-5.2	0	9	dbSNP_129	51	5,8589	3.7+/-12.6	0,5,4292	no	coding-synonymous	WDR34	NM_052844.3		10,237,6251	TT,TC,CC		0.0582,5.7247,1.9775		210/537	131398633	257,12739	2201	4297	6498	SO:0001819	synonymous_variant	89891	exon4			GGCCGACGGCTGC	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.630G>A	9.37:g.131398633C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	110	30	0.272727	NM_052844	Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	CCDS6906.2																																																																																			C|0.978;T|0.022	0.022	strong		0.682	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		T	131398633	C	T	131398633	2	4	22	1	0	0	0	0	0	0	0	1	17285	523	19	1		1	WDR34	9	131398633	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3065	131398633	9814798	5370	10478										
PKN3	29941	hgsc.bcm.edu	37	chr9	131467782	131467782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgagctgcgggagctgcaCgcccgaatcctgctgcccgg	16	15	0	0	rs55665019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131467782C>T	ENST00000291906.4	+	2	618	c.225C>T	c.(223-225)caC>caT	p.H75H		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	75					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGGAGCTGCACGCCCGAATCC	0.706													C|||	530	0.105831	0.3767	0.0317	5008	,	,		15403	0.0069		0.003	False		,,,				2504	0.0				p.H75H		Atlas-SNP	.											.	PKN3	62	.	0			c.C225T						PASS	.	C		1131,3035		106,919,1058	4	4	4		225	-10.4	0.1	9	dbSNP_129	4	36,8126		0,36,4045	no	coding-synonymous	PKN3	NM_013355.3		106,955,5103	TT,TC,CC		0.4411,27.1483,9.4663		75/890	131467782	1167,11161	2083	4081	6164	SO:0001819	synonymous_variant	29941	exon2			GCTGCACGCCCGA	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.225C>T	9.37:g.131467782C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	15	11	0.733333	NM_013355	Q9UM03	Silent	SNP	ENST00000291906.4	37	CCDS6908.1																																																																																			C|0.909;T|0.091	0.091	strong		0.706	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		T	131467782	C	T	131467782	2	4	22	1	0	0	0	0	0	0	0	1	11981	535	19	1		1	PKN3	9	131467782	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69149	131467782	9745649	5371	10479										
TBC1D13	54662	hgsc.bcm.edu	37	chr9	131565554	131565554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccacacaagaactctgTgccatcatccctaaatgagt	5	15	2	2	rs1572912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131565554T>C	ENST00000372648.5	+	8	719	c.569T>C	c.(568-570)gTg>gCg	p.V190A	TBC1D13_ENST00000539497.1_Missense_Mutation_p.V9A|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	190	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.		V -> A (in dbSNP:rs1572912). {ECO:0000269|PubMed:15489334}.				Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						AAGAACTCTGTGCCATCATCC	0.552													C|||	2520	0.503195	0.9206	0.2637	5008	,	,		19402	0.3571		0.2863	False		,,,				2504	0.4826				p.V190A		Atlas-SNP	.											.	TBC1D13	27	.	0			c.T569C						PASS	.	C	ALA/VAL	3576,830	328.3+/-300.5	1455,666,82	102	93	96		569	2.5	0	9	dbSNP_88	96	2434,6166	698.7+/-405.0	322,1790,2188	yes	missense	TBC1D13	NM_018201.3	64	1777,2456,2270	CC,CT,TT		28.3023,18.8379,46.2094	benign	190/401	131565554	6010,6996	2203	4300	6503	SO:0001583	missense	54662	exon8			ACTCTGTGCCATC	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.569T>C	9.37:g.131565554T>C	ENSP00000361731:p.Val190Ala	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	166	163	0.981928	NM_018201	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	928	0.4249084249084249	435	0.8841463414634146	103	0.2845303867403315	206	0.36013986013986016	184	0.24274406332453827	C	0.579	-0.838026	0.02692	0.811621	0.283023	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.41758	0.99;1.55	5.36	2.49	0.30216	Rab-GAP/TBC domain (3);	0.812882	0.11683	N	0.539641	T	0.00012	0.0000	N	0.16656	0.425	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	9	0.07030	T	0.85	0.5411	6.3238	0.21232	0.0:0.6384:0.1326:0.229	rs1572912;rs52793555;rs60746730;rs1572912	190	Q9NVG8	TBC13_HUMAN	A	190;9	ENSP00000361731:V190A;ENSP00000437751:V9A	ENSP00000361731:V190A	V	+	2	0	TBC1D13	130605375	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.664000	0.25068	0.013000	0.14918	-1.536000	0.00914	GTG	T|0.535;C|0.464	0.464	strong		0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		C	131565554	T	C	131565554	3	2	22	1	0	0	0	0	1	0	0	0	15599	1696	59	2	599	2	TBC1D13	9	131565554	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	97772	131565554	9647877	5372	10480										
ENDOG	2021	hgsc.bcm.edu	37	chr9	131584649	131584649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtaaagtaccaggtcatCggcaagaaccacgtggcagt	11	10	1	1	rs55985529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131584649C>T	ENST00000372642.4	+	3	865	c.654C>T	c.(652-654)atC>atT	p.I218I	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	218					apoptotic DNA fragmentation (GO:0006309)|DNA recombination (GO:0006310)|in utero embryonic development (GO:0001701)|positive regulation of apoptotic process (GO:0043065)|response to antibiotic (GO:0046677)|response to tumor necrosis factor (GO:0034612)	mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|nucleic acid binding (GO:0003676)										ACCAGGTCATCGGCAAGAACC	0.592													C|||	136	0.0271565	0.0961	0.0101	5008	,	,		20205	0.0		0.002	False		,,,				2504	0.0				p.I218I		Atlas-SNP	.											.	ENDOG	8	.	0			c.C654T						PASS	.	C	,	338,4068	177.3+/-206.3	10,318,1875	88	78	82		654,	-11.3	0	9	dbSNP_129	82	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous,utr-3	ENDOG,C9orf114	NM_004435.2,NM_016390.2	,	10,323,6170	TT,TC,CC		0.0581,7.6714,2.6372	,	218/298,	131584649	343,12663	2203	4300	6503	SO:0001819	synonymous_variant	2021	exon3			GGTCATCGGCAAG	X79444	CCDS6912.1	9q34.1	2008-06-04			ENSG00000167136	ENSG00000167136			3346	protein-coding gene	gene with protein product		600440				7789991	Standard	NM_004435		Approved		uc004bwc.3	Q14249	OTTHUMG00000020763	ENST00000372642.4:c.654C>T	9.37:g.131584649C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	107	66	0.616822	NM_004435	Q5T281|Q9BSP2	Silent	SNP	ENST00000372642.4	37	CCDS6912.1																																																																																			C|0.970;T|0.030	0.030	strong		0.592	ENDOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054505.1	NM_004435		T	131584649	C	T	131584649	2	4	22	1	0	0	0	0	0	0	0	1	5115	874	31	1		1	ENDOG	9	131584649	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19095	131584649	9628782	5373	10481										
C9orf114	51490	hgsc.bcm.edu	37	chr9	131588888	131588888	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccttcttcccaactcctGtgaattccccctccacagtc	4	20	1	1	rs6478854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131588888G>C	ENST00000361256.5	-	5	429	c.389C>G	c.(388-390)aCa>aGa	p.T130R		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	130			T -> R (in dbSNP:rs6478854). {ECO:0000269|PubMed:15489334}.				poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CCCAACTCCTGTGAATTCCCC	0.587													G|||	2311	0.461462	0.7602	0.2536	5008	,	,		18444	0.3601		0.2942	False		,,,				2504	0.4816				p.T130R		Atlas-SNP	.											.	C9orf114	28	.	0			c.C389G						PASS	.	G	ARG/THR	2973,1433	683.1+/-404.2	996,981,226	56	56	56		389	-4.3	0.9	9	dbSNP_116	56	2493,6107	409.2+/-349.7	337,1819,2144	yes	missense	C9orf114	NM_016390.2	71	1333,2800,2370	CC,CG,GG		28.9884,32.5238,42.0268	benign	130/377	131588888	5466,7540	2203	4300	6503	SO:0001583	missense	51490	exon5			ACTCCTGTGAATT		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.389C>G	9.37:g.131588888G>C	ENSP00000354812:p.Thr130Arg	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_016390	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	870|870	0.3983516483516483|0.3983516483516483	370|370	0.7520325203252033|0.7520325203252033	101|101	0.27900552486187846|0.27900552486187846	208|208	0.36363636363636365|0.36363636363636365	191|191	0.2519788918205805|0.2519788918205805	G|G	10.12|10.12	1.263936|1.263936	0.23136|0.23136	0.674762|0.674762	0.289884|0.289884	ENSG00000198917|ENSG00000198917	ENST00000372618|ENST00000361256	.|T	.|0.41065	.|1.01	5.62|5.62	-4.31|-4.31	0.03698|0.03698	.|.	0.428510|.	0.28914|.	N|.	0.013729|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.39633|0.39633	1.23|1.23	0.52099|0.52099	P|P	5.999999999994898E-5|5.999999999994898E-5	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.44436|0.44436	-0.9328|-0.9328	6|8	0.02654|0.15952	T|T	1|0.53	-0.1618|-0.1618	1.7504|1.7504	0.02970|0.02970	0.2463:0.1486:0.1088:0.4963|0.2463:0.1486:0.1088:0.4963	rs6478854;rs11540575;rs17855860;rs56866944;rs6478854|rs6478854;rs11540575;rs17855860;rs56866944;rs6478854	.|130	.|Q5T280	.|CI114_HUMAN	E|R	130|130	.|ENSP00000354812:T130R	ENSP00000361701:Q130E|ENSP00000354812:T130R	Q|T	-|-	1|2	0|0	C9orf114|C9orf114	130628709|130628709	0.001000|0.001000	0.12720|0.12720	0.892000|0.892000	0.35008|0.35008	0.880000|0.880000	0.50808|0.50808	-0.159000|-0.159000	0.10056|0.10056	-0.654000|-0.654000	0.05394|0.05394	-0.143000|-0.143000	0.13931|0.13931	CAG|ACA	G|0.583;C|0.417	0.417	strong		0.587	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		C	131588888	G	C	131588888	3	2	22	1	0	0	0	0	1	0	0	0	2449	1377	48	4	773	4	C9orf114	9	131588888	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4239	131588888	9624543	5374	10482										
LRRC8A	56262	hgsc.bcm.edu	37	chr9	131670457	131670457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacggcctcatctgcatgtaTacactgtggtggatgctacg	11	10	2	0	rs3750320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131670457T>C	ENST00000259324.5	+	3	1537	c.1014T>C	c.(1012-1014)taT>taC	p.Y338Y	LRRC8A_ENST00000372599.3_Silent_p.Y338Y|LRRC8A_ENST00000372600.4_Silent_p.Y338Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	338					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						TCTGCATGTATACACTGTGGT	0.562													C|||	1324	0.264377	0.4297	0.1513	5008	,	,		20578	0.1746		0.2008	False		,,,				2504	0.2791				p.Y338Y		Atlas-SNP	.											.	LRRC8A	69	.	0			c.T1014C						PASS	.	C	,,	1735,2671	648.2+/-398.7	308,1119,776	199	145	164		1014,1014,1014	4.3	1	9	dbSNP_107	164	1596,7004	743.6+/-407.2	141,1314,2845	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	449,2433,3621	CC,CT,TT		18.5581,39.3781,25.6113	,,	338/811,338/811,338/811	131670457	3331,9675	2203	4300	6503	SO:0001819	synonymous_variant	56262	exon3			CATGTATACACTG	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.1014T>C	9.37:g.131670457T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	104	39	0.375	NM_001127244	Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	CCDS35155.1																																																																																			T|0.745;C|0.255	0.255	strong		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		C	131670457	T	C	131670457	2	2	22	1	0	0	0	0	0	0	0	1	9021	1413	49	2		2	LRRC8A	9	131670457	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	81569	131670457	9542974	5375	10483										
PHYHD1	254295	hgsc.bcm.edu	37	chr9	131689361	131689361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaaggattcttgtctgcGgaagagtgtgtggccatgca	15	7	2	1	rs751340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131689361G>A	ENST00000372592.3	+	4	1011	c.78G>A	c.(76-78)gcG>gcA	p.A26A	PHYHD1_ENST00000308941.5_Silent_p.A26A|PHYHD1_ENST00000421063.2_Silent_p.A26A|PHYHD1_ENST00000353176.5_Silent_p.A26A	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	26							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A26A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TCTTGTCTGCGGAAGAGTGTG	0.542													A|||	1852	0.369808	0.4228	0.4294	5008	,	,		20654	0.2371		0.4105	False		,,,				2504	0.3507				p.A26A		Atlas-SNP	.											PHYHD1,caecum,carcinoma,+1,2	PHYHD1	29	2	1	Substitution - coding silent(1)	stomach(1)	c.G78A						PASS	.	A	,,	1846,2560	634.6+/-396.2	366,1114,723	212	175	187		78,78,78	-9.8	0	9	dbSNP_86	187	3252,5348	649.9+/-400.7	632,1988,1680	no	coding-synonymous,coding-synonymous,coding-synonymous	PHYHD1	NM_001100876.1,NM_001100877.1,NM_174933.3	,,	998,3102,2403	AA,AG,GG		37.814,41.8974,39.1973	,,	26/292,26/271,26/298	131689361	5098,7908	2203	4300	6503	SO:0001819	synonymous_variant	254295	exon2			GTCTGCGGAAGAG	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.78G>A	9.37:g.131689361G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	204	204	1	NM_001100877	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Silent	SNP	ENST00000372592.3	37	CCDS43885.1																																																																																			G|0.615;A|0.385	0.385	strong		0.542	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		A	131689361	G	A	131689361	2	1	22	1	0	0	0	0	0	0	0	1	11865	1103	39	1		1	PHYHD1	9	131689361	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18904	131689361	9524070	5376	10484										
PHYHD1	254295	hgsc.bcm.edu	37	chr9	131702891	131702891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcaggtggtgtgtcaagAaggatggtccgggcccctgt	16	10	1	1	rs2273866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131702891A>G	ENST00000372592.3	+	11	1533	c.600A>G	c.(598-600)agA>agG	p.R200R	RP11-101E3.5_ENST00000482796.1_5'Flank|PHYHD1_ENST00000421063.2_Silent_p.R179R|PHYHD1_ENST00000487504.1_3'UTR|PHYHD1_ENST00000308941.5_Missense_Mutation_p.E193G|PHYHD1_ENST00000353176.5_Silent_p.R179R	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	200							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E193G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						GTGTGTCAAGAAGGATGGTCC	0.607													A|||	1760	0.351438	0.3555	0.4251	5008	,	,		18832	0.2381		0.4095	False		,,,				2504	0.3507				p.E193G		Atlas-SNP	.											PHYHD1,NS,carcinoma,0,1	PHYHD1	29	1	1	Substitution - Missense(1)	stomach(1)	c.A578G						PASS	.	A	,,GLY/GLU	1558,2848	490.6+/-361.9	254,1050,899	108	100	103		600,537,578	-1.5	0.9	9	dbSNP_100	103	3247,5353	488.0+/-372.2	631,1985,1684	yes	coding-synonymous,coding-synonymous,missense	PHYHD1	NM_001100876.1,NM_001100877.1,NM_174933.3	,,98	885,3035,2583	GG,GA,AA		37.7558,35.3609,36.9445	,,	200/292,179/271,193/298	131702891	4805,8201	2203	4300	6503	SO:0001819	synonymous_variant	254295	exon10			GTCAAGAAGGATG	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.600A>G	9.37:g.131702891A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_174933	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	CCDS43885.1	790	0.3617216117216117	198	0.4024390243902439	149	0.4116022099447514	130	0.22727272727272727	313	0.4129287598944591	A	14.23	2.473911	0.43942	0.353609	0.377558	ENSG00000175287	ENST00000308941	.	.	.	4.78	-1.45	0.08828	.	2.450790	0.02210	N	0.063064	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999990798	B	0.06786	0.001	B	0.08055	0.003	T	0.39143	-0.9628	7	0.22109	T	0.4	0.7128	8.2316	0.31601	0.2791:0.1426:0.5782:0.0	rs2273866;rs17452324;rs17455259;rs17485374;rs17850494;rs52819401;rs56896723;rs2273866	193	Q5SRE7-3	.	G	193	.	ENSP00000309515:E193G	E	+	2	0	PHYHD1	130742712	0.920000	0.31207	0.901000	0.35422	0.949000	0.60115	-0.020000	0.12525	-0.043000	0.13513	0.454000	0.30748	GAA	A|0.643;G|0.357	0.357	strong		0.607	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		G	131702891	A	G	131702891	2	3	22	1	0	0	0	0	0	0	0	1	11865	246	9	2		2	PHYHD1	9	131702891	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13530	131702891	9510540	5377	10485										
NUP188	23511	hgsc.bcm.edu	37	chr9	131755891	131755891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgatactggtgcccacccCtgctgcatcgtgccgccatt	9	16	0	0	rs17485583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131755891C>T	ENST00000372577.2	+	27	2956	c.2935C>T	c.(2935-2937)Ctg>Ttg	p.L979L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	979					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGCCCACCCCTGCTGCATCG	0.562													C|||	169	0.033746	0.1203	0.0115	5008	,	,		20683	0.0		0.002	False		,,,				2504	0.0				p.L979L		Atlas-SNP	.											.	NUP188	140	.	0			c.C2935T						PASS	.	C		452,3954	218.1+/-236.3	17,418,1768	169	137	148		2935	5.6	1	9	dbSNP_123	148	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	NUP188	NM_015354.1		17,424,6062	TT,TC,CC		0.0698,10.2587,3.5215		979/1750	131755891	458,12548	2203	4300	6503	SO:0001819	synonymous_variant	23511	exon27			CCACCCCTGCTGC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2935C>T	9.37:g.131755891C>T		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	218	140	0.642202	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																			C|0.962;T|0.038	0.038	strong		0.562	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			T	131755891	C	T	131755891	2	4	22	1	0	0	0	0	0	0	0	1	10758	680	24	2		2	NUP188	9	131755891	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53000	131755891	9457540	5378	10486										
NUP188	23511	hgsc.bcm.edu	37	chr9	131767668	131767668	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgctgccccctcctcctcAaagcagcccgctgctgacac	7	20	2	1	rs2287363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131767668A>C	ENST00000372577.2	+	40	4617	c.4596A>C	c.(4594-4596)tcA>tcC	p.S1532S	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1532					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTCCTCCTCAAAGCAGCCCG	0.597													C|||	2262	0.451677	0.4728	0.4957	5008	,	,		19526	0.4067		0.4672	False		,,,				2504	0.4223				p.S1532S		Atlas-SNP	.											.	NUP188	140	.	0			c.A4596C						PASS	.	C		2007,2399	582.1+/-385.5	439,1129,635	37	38	38		4596	2	1	9	dbSNP_100	38	3525,5075	607.7+/-395.3	739,2047,1514	no	coding-synonymous	NUP188	NM_015354.1		1178,3176,2149	CC,CA,AA		40.9884,45.5515,42.5342		1532/1750	131767668	5532,7474	2203	4300	6503	SO:0001819	synonymous_variant	23511	exon40			CTCCTCAAAGCAG	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4596A>C	9.37:g.131767668A>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																			A|0.553;C|0.447	0.447	strong		0.597	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			C	131767668	A	C	131767668	2	2	22	1	0	0	0	0	0	0	0	1	10758	117	5	5		5	NUP188	9	131767668	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11777	131767668	9445763	5379	10487										
FAM73B	84895	hgsc.bcm.edu	37	chr9	131804785	131804785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggaaggtcccttcagTgaagaaaggtaggtgtgagg	17	6	1	3	rs11544968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131804785T>C	ENST00000358369.4	+	3	525	c.299T>C	c.(298-300)gTg>gCg	p.V100A	FAM73B_ENST00000406926.2_Missense_Mutation_p.V100A|FAM73B_ENST00000277475.5_Missense_Mutation_p.V100A|FAM73B_ENST00000474534.1_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	100			V -> A (in dbSNP:rs16930845).		bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GTCCCTTCAGTGAAGAAaggt	0.602													T|||	1068	0.213259	0.4183	0.1686	5008	,	,		22200	0.1944		0.0567	False		,,,				2504	0.1483				p.V100A		Atlas-SNP	.											.	FAM73B	37	.	0			c.T299C						PASS	.	T	ALA/VAL	1652,2736		298,1056,840	55	35	42		299	4.5	1	9	dbSNP_123	42	400,8172		9,382,3895	yes	missense	FAM73B	NM_032809.2	64	307,1438,4735	CC,CT,TT		4.6664,37.6481,15.8333	benign	100/594	131804785	2052,10908	2194	4286	6480	SO:0001583	missense	84895	exon3			CTTCAGTGAAGAA	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.299T>C	9.37:g.131804785T>C	ENSP00000351138:p.Val100Ala	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_032809	Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	CCDS6917.1	416	0.19047619047619047	216	0.43902439024390244	57	0.1574585635359116	108	0.1888111888111888	35	0.04617414248021108	T	12.26	1.884006	0.33255	0.376481	0.046664	ENSG00000148343	ENST00000358369;ENST00000406926;ENST00000277475	T;T;T	0.20200	2.09;2.09;2.09	5.67	4.51	0.55191	.	0.540568	0.19798	N	0.105805	T	0.00012	0.0000	N	0.22421	0.69	0.26401	P	0.9764219	B;B	0.17465	0.022;0.005	B;B	0.17433	0.018;0.007	T	0.44620	-0.9316	9	0.02654	T	1	-16.7083	6.9735	0.24662	0.0:0.0749:0.1509:0.7742	rs16930845;rs17452589;rs17485814;rs52826972;rs58723091;rs16930845	164;100	B4DZP8;Q7L4E1	.;FA73B_HUMAN	A	100	ENSP00000351138:V100A;ENSP00000384662:V100A;ENSP00000277475:V100A	ENSP00000277475:V100A	V	+	2	0	FAM73B	130844606	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	4.102000	0.57776	0.945000	0.37605	0.459000	0.35465	GTG	T|0.791;C|0.209	0.209	strong		0.602	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		C	131804785	T	C	131804785	3	2	22	1	0	0	0	0	1	0	0	0	5618	1696	59	2	305	2	FAM73B	9	131804785	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37117	131804785	9408646	5380	10488										
CRAT	1384	hgsc.bcm.edu	37	chr9	131860421	131860421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtggcacatgcctgtccGtagatcctggtgggaaatgg	15	8	0	1	rs16930895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131860421G>A	ENST00000318080.2	-	11	1629	c.1335C>T	c.(1333-1335)taC>taT	p.Y445Y	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	445					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ATGCCTGTCCGTAGATCCTGG	0.642													G|||	198	0.0395367	0.1445	0.0086	5008	,	,		20455	0.0		0.001	False		,,,				2504	0.0				p.Y445Y		Atlas-SNP	.											.	CRAT	43	.	0			c.C1335T						PASS	.	G		605,3801	264.1+/-265.8	34,537,1632	113	114	114		1335	1.2	0.6	9	dbSNP_123	114	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CRAT	NM_000755.3		34,540,5929	AA,AG,GG		0.0349,13.7313,4.6748		445/627	131860421	608,12398	2203	4300	6503	SO:0001819	synonymous_variant	1384	exon11			CTGTCCGTAGATC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1335C>T	9.37:g.131860421G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_000755	Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	CCDS6919.1	82	0.037545787545787544	77	0.1565040650406504	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	5.678	0.309678	0.10733	0.137313	3.49E-4	ENSG00000095321	ENST00000455396	.	.	.	5.65	1.21	0.21127	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	P	0.999999999693856	.	.	.	.	.	.	T	0.10706	-1.0618	3	.	.	.	-22.048	9.4792	0.38891	0.4152:0.0:0.5848:0.0	rs16930895;rs17486087;rs16930895	.	.	.	W	44	.	.	R	-	1	2	CRAT	130900242	0.002000	0.14202	0.565000	0.28409	0.678000	0.39670	-0.028000	0.12350	0.332000	0.23536	0.561000	0.74099	CGG	G|0.943;A|0.057	0.057	strong		0.642	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			A	131860421	G	A	131860421	2	1	22	1	0	0	0	0	0	0	0	1	3847	1140	40	1		1	CRAT	9	131860421	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55636	131860421	9353010	5381	10489										
CRAT	1384	hgsc.bcm.edu	37	chr9	131866523	131866523	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtagcatcacgcctgggctCgagtagatgaccacaggctg	14	11	1	2	rs2228304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:131866523C>G	ENST00000318080.2	-	3	648	c.354G>C	c.(352-354)tcG>tcC	p.S118S	AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000464290.1_Intron	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	118					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CGCCTGGGCTCGAGTAGATGA	0.647													C|||	717	0.143171	0.3691	0.0519	5008	,	,		15850	0.123		0.006	False		,,,				2504	0.0644				p.S118S		Atlas-SNP	.											.	CRAT	43	.	0			c.G354C						PASS	.	C		1401,3001	448.3+/-348.6	229,943,1029	51	38	42		354	2	1	9	dbSNP_98	42	52,8548	27.9+/-77.7	0,52,4248	no	coding-synonymous	CRAT	NM_000755.3		229,995,5277	GG,GC,CC		0.6047,31.8264,11.1752		118/627	131866523	1453,11549	2201	4300	6501	SO:0001819	synonymous_variant	1384	exon3			TGGGCTCGAGTAG	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.354G>C	9.37:g.131866523C>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	122	81	0.663934	NM_000755	Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	CCDS6919.1																																																																																			C|0.852;G|0.148	0.148	strong		0.647	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			G	131866523	C	G	131866523	2	3	22	1	0	0	0	0	0	0	0	1	3847	871	31	4		4	CRAT	9	131866523	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6102	131866523	9346908	5382	10490										
C9orf50	375759	hgsc.bcm.edu	37	chr9	132377769	132377769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgtctgcttacctgagcGtctgcgctcccagtagcgga	11	14	2	1	rs117566704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132377769G>A	ENST00000372478.4	-	4	1075	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	292										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TTACCTGAGCGTCTGCGCTCC	0.642													g|||	3	0.000599042	0.0015	0.0	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.001				p.R292C		Atlas-SNP	.											.	C9orf50	25	.	0			c.C874T						PASS	.		CYS/ARG	11,4395	17.9+/-39.9	0,11,2192	53	45	48		874	0.8	0	9	dbSNP_132	48	0,8600		0,0,4300	yes	missense	C9orf50	NM_199350.3	180	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	292/432	132377769	11,12995	2203	4300	6503	SO:0001583	missense	375759	exon4			CTGAGCGTCTGCG	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.874C>T	9.37:g.132377769G>A	ENSP00000361556:p.Arg292Cys	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	63	35	0.555556	NM_199350	Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	g	6.146	0.395061	0.11638	0.002497	0.0	ENSG00000179058	ENST00000372478	T	0.18657	2.2	3.17	0.799	0.18667	.	1.485060	0.04472	N	0.376207	T	0.11196	0.0273	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	10	0.46703	T	0.11	1.6017	5.7707	0.18251	0.5791:0.0:0.4209:0.0	.	292	Q5SZB4	CI050_HUMAN	C	292	ENSP00000361556:R292C	ENSP00000361556:R292C	R	-	1	0	C9orf50	131417590	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.457000	0.21875	-0.097000	0.12307	-1.479000	0.00991	CGC	A|0.001;C|0.002;G|0.998	0.001	strong		0.642	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		A	132377769	G	A	132377769	3	1	22	1	0	0	0	0	1	0	0	0	2487	1145	40	1	437	1	C9orf50	9	132377769	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	511246	132377769	8835662	5383	10491										
PTGES	9536	hgsc.bcm.edu	37	chr9	132510960	132510960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgttccacgtcggggtcGctcctgcaatactgggggcc	14	14	0	0	rs3205181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132510960G>A	ENST00000340607.4	-	2	217	c.183C>T	c.(181-183)agC>agT	p.S61S	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	61					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CGTCGGGGTCGCTCCTGCAAT	0.607													G|||	132	0.0263578	0.093	0.0115	5008	,	,		16751	0.0		0.001	False		,,,				2504	0.0				p.S61S		Atlas-SNP	.											.	PTGES	7	.	0			c.C183T						PASS	.	G		367,4039	185.7+/-212.7	14,339,1850	49	42	44		183	-12.2	0	9	dbSNP_105	44	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	PTGES	NM_004878.4		14,345,6144	AA,AG,GG		0.0698,8.3296,2.8679		61/153	132510960	373,12633	2203	4300	6503	SO:0001819	synonymous_variant	9536	exon2			GGGGTCGCTCCTG	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.183C>T	9.37:g.132510960G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	71	48	0.676056	NM_004878	O14900|Q5SZC0	Silent	SNP	ENST00000340607.4	37	CCDS6927.1																																																																																			G|0.969;A|0.031	0.031	strong		0.607	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		A	132510960	G	A	132510960	2	1	22	1	0	0	0	0	0	0	0	1	12746	1078	38	1		1	PTGES	9	132510960	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133191	132510960	8702471	5384	10492										
PTGES	9536	hgsc.bcm.edu	37	chr9	132515247	132515247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtgctgcagagcaggaaGgccgggagggccgggctgct	20	10	0	1	rs11792431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132515247G>A	ENST00000340607.4	-	1	79	c.45C>T	c.(43-45)gcC>gcT	p.A15A	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	15					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				AGAGCAGGAAGGCCGGGAGGG	0.637													G|||	438	0.0874601	0.211	0.049	5008	,	,		17159	0.0169		0.0596	False		,,,				2504	0.0491				p.A15A		Atlas-SNP	.											.	PTGES	7	.	0			c.C45T						PASS	.	G		784,3622	306.0+/-289.3	63,658,1482	56	59	58		45	3.6	1	9	dbSNP_120	58	559,8041	150.6+/-205.5	6,547,3747	no	coding-synonymous	PTGES	NM_004878.4		69,1205,5229	AA,AG,GG		6.5,17.7939,10.326		15/153	132515247	1343,11663	2203	4300	6503	SO:0001819	synonymous_variant	9536	exon1			CAGGAAGGCCGGG	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.45C>T	9.37:g.132515247G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_004878	O14900|Q5SZC0	Silent	SNP	ENST00000340607.4	37	CCDS6927.1																																																																																			G|0.905;A|0.095	0.095	strong		0.637	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		A	132515247	G	A	132515247	2	1	22	1	0	0	0	0	0	0	0	1	12746	987	35	2		2	PTGES	9	132515247	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4287	132515247	8698184	5385	10493										
C9orf78	51759	hgsc.bcm.edu	37	chr9	132591509	132591509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctctggcttctccgtgtcAcctactctcaagggccgggc	12	15	4	0	rs3818553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132591509A>G	ENST00000372447.3	-	8	806	c.753T>C	c.(751-753)ggT>ggC	p.G251G	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	251						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G251G(1)		kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCTCCGTGTCACCTACTCTCA	0.597													G|||	1190	0.23762	0.2194	0.2147	5008	,	,		17171	0.2143		0.2734	False		,,,				2504	0.2658				p.G251G		Atlas-SNP	.											C9orf78,NS,carcinoma,0,1	C9orf78	26	1	1	Substitution - coding silent(1)	stomach(1)	c.T753C						PASS	.	G		995,3411	730.4+/-410.2	109,777,1317	62	60	61		753	-11.9	0.2	9	dbSNP_107	61	2145,6455	714.0+/-406.0	276,1593,2431	no	coding-synonymous	C9orf78	NM_016520.2		385,2370,3748	GG,GA,AA		24.9419,22.5828,24.1427		251/290	132591509	3140,9866	2203	4300	6503	SO:0001819	synonymous_variant	51759	exon8			CGTGTCACCTACT	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 59"					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.753T>C	9.37:g.132591509A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	122	44	0.360656	NM_016520	B3KPX8|Q8WVU6|Q9NT39	Silent	SNP	ENST00000372447.3	37	CCDS6931.1	516	0.23626373626373626	95	0.19308943089430894	82	0.2265193370165746	127	0.22202797202797203	212	0.2796833773087071	G	9.641	1.139016	0.21205	0.225828	0.249419	ENSG00000136819	ENST00000435276	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999997752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5548	0.22454	0.2478:0.2074:0.465:0.0798	rs3818553;rs3818553	.	.	.	R	176	.	.	X	-	1	0	C9orf78	131631330	0.000000	0.05858	0.217000	0.23759	0.854000	0.48673	-2.932000	0.00688	-2.722000	0.00388	-1.140000	0.01884	TGA	A|0.766;G|0.234	0.234	strong		0.597	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		G	132591509	A	G	132591509	2	3	22	1	0	0	0	0	0	0	0	1	2496	146	6	2		2	C9orf78	9	132591509	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76262	132591509	8621922	5386	10494										
C9orf78	51759	hgsc.bcm.edu	37	chr9	132597021	132597021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttcctcaagttctgtacCtctctggtctcttccagttt	5	14	5	0	rs3814547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132597021C>T	ENST00000372447.3	-	2	161	c.108G>A	c.(106-108)gaG>gaA	p.E36E	C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000358355.1_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	36						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E36E(1)		kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				AGTTCTGTACCTCTCTGGTCT	0.547													C|||	1166	0.232827	0.1997	0.2133	5008	,	,		17649	0.2143		0.2753	False		,,,				2504	0.2669				p.E36E		Atlas-SNP	.											C9orf78,NS,carcinoma,0,1	C9orf78	26	1	1	Substitution - coding silent(1)	stomach(1)	c.G108A						PASS	.	C		912,3494	348.0+/-309.7	91,730,1382	148	137	141		108	-1.2	1	9	dbSNP_107	141	2151,6449	368.4+/-335.1	278,1595,2427	no	coding-synonymous	C9orf78	NM_016520.2		369,2325,3809	TT,TC,CC		25.0116,20.699,23.5507		36/290	132597021	3063,9943	2203	4300	6503	SO:0001819	synonymous_variant	51759	exon2			CTGTACCTCTCTG	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 59"					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.108G>A	9.37:g.132597021C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	150	51	0.34	NM_016520	B3KPX8|Q8WVU6|Q9NT39	Silent	SNP	ENST00000372447.3	37	CCDS6931.1																																																																																			C|0.765;T|0.235	0.235	strong		0.547	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		T	132597021	C	T	132597021	2	4	22	1	0	0	0	0	0	0	0	1	2496	680	24	2		2	C9orf78	9	132597021	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5512	132597021	8616410	5387	10495										
GPR107	57720	hgsc.bcm.edu	37	chr9	132854643	132854643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgggaccatctggattcaTatccttcgaaaacgacggta	9	10	3	0	rs34227818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:132854643T>C	ENST00000372406.1	+	9	1353	c.846T>C	c.(844-846)caT>caC	p.H282H	GPR107_ENST00000372410.3_Silent_p.H282H|GPR107_ENST00000347136.6_Silent_p.H282H	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	282						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCTGGATTCATATCCTTCGAA	0.423													T|||	120	0.0239617	0.0825	0.0144	5008	,	,		15888	0.0		0.001	False		,,,				2504	0.0				p.H282H		Atlas-SNP	.											.	GPR107	30	.	0			c.T846C						PASS	.	T	,,	325,4081	173.0+/-202.9	5,315,1883	147	144	145		846,846,846	2.2	1	9	dbSNP_126	145	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR107	NM_001136557.1,NM_001136558.1,NM_020960.4	,,	5,322,6176	CC,CT,TT		0.0814,7.3763,2.5527	,,	282/601,282/572,282/553	132854643	332,12674	2203	4300	6503	SO:0001819	synonymous_variant	57720	exon9			GATTCATATCCTT	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.846T>C	9.37:g.132854643T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	203	126	0.62069	NM_001136557	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	CCDS48041.1																																																																																			T|0.980;C|0.020	0.020	strong		0.423	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			C	132854643	T	C	132854643	2	2	22	1	0	0	0	0	0	0	0	1	6623	1403	49	2		2	GPR107	9	132854643	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	257622	132854643	8358788	5388	10496										
PRDM12	59335	hgsc.bcm.edu	37	chr9	133553993	133553993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggatcccaggtgtgccCgggctagaggaggaccagaa	17	10	0	2	rs7021384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133553993C>T	ENST00000253008.2	+	4	708	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	216					neurogenesis (GO:0022008)|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)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGGTGTGCCCGGGCTAGAGG	0.592													C|||	1893	0.377995	0.3336	0.451	5008	,	,		18722	0.4722		0.3211	False		,,,				2504	0.3476				p.P216P		Atlas-SNP	.											.	PRDM12	24	.	0			c.C648T						PASS	.	C		1542,2864	486.4+/-360.6	264,1014,925	89	85	86		648	-11.5	0	9	dbSNP_116	86	2733,5867	436.9+/-358.5	436,1861,2003	no	coding-synonymous	PRDM12	NM_021619.2		700,2875,2928	TT,TC,CC		31.7791,34.9977,32.8694		216/368	133553993	4275,8731	2203	4300	6503	SO:0001819	synonymous_variant	59335	exon4			TGTGCCCGGGCTA	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.648C>T	9.37:g.133553993C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_021619	A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																			C|0.650;T|0.350	0.350	strong		0.592	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		T	133553993	C	T	133553993	2	4	22	1	0	0	0	0	0	0	0	1	12453	639	23	1		1	PRDM12	9	133553993	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	699350	133553993	7659438	5389	10497										
ABL1	25	hgsc.bcm.edu	37	chr9	133759546	133759546	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagcagctccttccgggaGatggacggccagccggagcg	16	14	0	1	rs34717358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133759546G>A	ENST00000318560.5	+	11	2250	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	623					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCTTCCGGGAGATGGACGGCC	0.602			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								G|||	116	0.0231629	0.0613	0.0245	5008	,	,		16665	0.0		0.0179	False		,,,				2504	0.0				p.E642E		Atlas-SNP	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1	1632	.	0			c.G1926A						PASS	.	G	,	232,4174		6,220,1977	46	56	52		1869,1926	4.7	1	9	dbSNP_126	52	145,8455		0,145,4155	no	coding-synonymous,coding-synonymous	ABL1	NM_005157.4,NM_007313.2	,	6,365,6132	AA,AG,GG		1.686,5.2655,2.8987	,	623/1131,642/1150	133759546	377,12629	2203	4300	6503	SO:0001819	synonymous_variant	25	exon11			CCGGGAGATGGAC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1869G>A	9.37:g.133759546G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	80	63	0.7875	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			G|0.971;A|0.029	0.029	strong		0.602	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		A	133759546	G	A	133759546	2	1	22	1	0	0	0	0	0	0	0	1	92	933	33	2		2	ABL1	9	133759546	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205553	133759546	7453885	5390	10498										
ABL1	25	hgsc.bcm.edu	37	chr9	133760592	133760592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacagtccgccaagccgtCggggacccccatcagcccag	11	19	1	0	rs2229067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133760592C>T	ENST00000318560.5	+	11	3296	c.2915C>T	c.(2914-2916)tCg>tTg	p.S972L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	972	F-actin-binding.|Pro-rich.		S -> L (in dbSNP:rs2229067). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.4}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCAAGCCGTCGGGGACCCCC	0.672			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								C|||	93	0.0185703	0.0431	0.0245	5008	,	,		15811	0.0		0.0189	False		,,,				2504	0.0				p.S991L		Atlas-SNP	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1	1632	.	0			c.C2972T						PASS	.	C	LEU/SER,LEU/SER	190,4214	111.6+/-149.8	4,182,2016	41	51	48		2915,2972	2.4	0	9	dbSNP_98	48	172,8420	75.7+/-138.4	0,172,4124	yes	missense,missense	ABL1	NM_005157.4,NM_007313.2	145,145	4,354,6140	TT,TC,CC		2.0019,4.3143,2.7855	benign,benign	972/1131,991/1150	133760592	362,12634	2202	4296	6498	SO:0001583	missense	25	exon11			AGCCGTCGGGGAC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2915C>T	9.37:g.133760592C>T	ENSP00000323315:p.Ser972Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	96	60	0.625	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	39	0.017857142857142856	16	0.032520325203252036	9	0.024861878453038673	0	0.0	14	0.018469656992084433	C	9.404	1.078707	0.20227	0.043143	0.020019	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.11495	2.77;2.77	5.27	2.43	0.29744	F-actin binding (1);	1.170500	0.05873	N	0.625078	T	0.01800	0.0057	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.004;0.007	T	0.35871	-0.9771	10	0.42905	T	0.14	.	7.9383	0.29944	0.0:0.6637:0.0:0.3363	rs2229067;rs2229067	972;1009	P00519;Q59FK4	ABL1_HUMAN;.	L	787;991;972	ENSP00000361423:S991L;ENSP00000323315:S972L	ENSP00000323315:S972L	S	+	2	0	ABL1	132750413	0.000000	0.05858	0.009000	0.14445	0.707000	0.40811	0.591000	0.23969	0.613000	0.30089	-0.258000	0.10820	TCG	C|0.971;T|0.029	0.029	strong		0.672	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133760592	C	T	133760592	3	4	22	1	0	0	0	0	1	0	0	0	92	893	31	1	3097	1	ABL1	9	133760592	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1046	133760592	7452839	5391	10499										
ABL1	25	hgsc.bcm.edu	37	chr9	133761001	133761001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacagcaggcagtggtccAgcggccactcaggacttcag	14	13	2	0	rs1056171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133761001A>G	ENST00000318560.5	+	11	3705	c.3324A>G	c.(3322-3324)ccA>ccG	p.P1108P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1108	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCAGTGGTCCAGCGGCCACTC	0.557			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								G|||	3276	0.654153	0.882	0.6974	5008	,	,		18771	0.5952		0.4881	False		,,,				2504	0.547				p.P1127P		Atlas-SNP	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	ABL1,scalp,carcinoma,+2,1	ABL1	1632	1	0			c.A3381G						PASS	.	G	,	3592,814	300.1+/-286.2	1470,652,81	29	34	32		3324,3381	-10.5	0.2	9	dbSNP_86	32	4015,4585	586.5+/-392.0	924,2167,1209	no	coding-synonymous,coding-synonymous	ABL1	NM_005157.4,NM_007313.2	,	2394,2819,1290	GG,GA,AA		46.686,18.4748,41.5116	,	1108/1131,1127/1150	133761001	7607,5399	2203	4300	6503	SO:0001819	synonymous_variant	25	exon11			TGGTCCAGCGGCC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3324A>G	9.37:g.133761001A>G		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			A|0.391;G|0.609	0.609	strong		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		G	133761001	A	G	133761001	2	3	22	1	0	0	0	0	0	0	0	1	92	175	7	3		3	ABL1	9	133761001	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	409	133761001	7452430	5392	10500										
QRFP	347148	hgsc.bcm.edu	37	chr9	133768921	133768921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcttctcccccgcagcaGggaggaagccggtggcctca	14	14	3	0	rs140393161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133768921G>A	ENST00000343079.1	-	1	304	c.305C>T	c.(304-306)cCt>cTt	p.P102L		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CCCCGCAGCAGGGAGGAAGCC	0.642													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18404	0.0		0.0	False		,,,				2504	0.0				p.P102L		Atlas-SNP	.											.	QRFP	14	.	0			c.C305T						PASS	.	G	LEU/PRO	4,4400	6.2+/-15.9	0,4,2198	57	63	61		305	0.9	0	9	dbSNP_134	61	0,8600		0,0,4300	yes	missense	QRFP	NM_198180.1	98	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	102/137	133768921	4,13000	2202	4300	6502	SO:0001583	missense	347148	exon1			GCAGCAGGGAGGA	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.305C>T	9.37:g.133768921G>A	ENSP00000345487:p.Pro102Leu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	105	38	0.361905	NM_198180		Missense_Mutation	SNP	ENST00000343079.1	37	CCDS6936.1	5	0.0022893772893772895	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	G	7.215	0.596183	0.13875	9.08E-4	0.0	ENSG00000188710	ENST00000343079	T	0.41065	1.01	4.12	0.912	0.19349	.	0.654924	0.13732	N	0.366612	T	0.19087	0.0458	L	0.37507	1.11	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.18461	-1.0336	10	0.22109	T	0.4	-0.0237	3.2515	0.06816	0.1026:0.1401:0.4738:0.2835	.	102	P83859	OX26_HUMAN	L	102	ENSP00000345487:P102L	ENSP00000345487:P102L	P	-	2	0	QRFP	132758742	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.074000	0.11450	-0.057000	0.13199	0.313000	0.20887	CCT	G|0.999;A|0.001	0.001	strong		0.642	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		A	133768921	G	A	133768921	3	1	22	1	0	0	0	0	1	0	0	0	12877	1000	35	2	108	2	QRFP	9	133768921	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7920	133768921	7444510	5393	10501										
QRFP	347148	hgsc.bcm.edu	37	chr9	133768987	133768987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatctgcagccagcatgcTctctgcccgatgtctgcagc	11	14	3	0	rs111763002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133768987T>C	ENST00000343079.1	-	1	238	c.239A>G	c.(238-240)gAg>gGg	p.E80G		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GCCAGCATGCTCTCTGCCCGA	0.667													T|||	95	0.0189696	0.0582	0.0173	5008	,	,		18583	0.0		0.006	False		,,,				2504	0.0				p.E80G		Atlas-SNP	.											.	QRFP	14	.	0			c.A239G						PASS	.	T	GLY/GLU	197,4209	120.0+/-157.7	7,183,2013	62	65	64		239	-2.3	0	9	dbSNP_132	64	48,8552	29.0+/-79.6	0,48,4252	yes	missense	QRFP	NM_198180.1	98	7,231,6265	CC,CT,TT		0.5581,4.4712,1.8837	benign	80/137	133768987	245,12761	2203	4300	6503	SO:0001583	missense	347148	exon1			GCATGCTCTCTGC	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.239A>G	9.37:g.133768987T>C	ENSP00000345487:p.Glu80Gly	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	145	95	0.655172	NM_198180		Missense_Mutation	SNP	ENST00000343079.1	37	CCDS6936.1	30	0.013736263736263736	22	0.044715447154471545	6	0.016574585635359115	0	0.0	2	0.002638522427440633	T	13.86	2.362823	0.41902	0.044712	0.005581	ENSG00000188710	ENST00000343079	T	0.50813	0.73	4.65	-2.29	0.06805	.	0.447428	0.19611	N	0.110130	T	0.09905	0.0243	L	0.52573	1.65	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.12066	-1.0562	10	0.54805	T	0.06	-1.6953	5.0319	0.14413	0.0:0.2479:0.2911:0.461	.	80	P83859	OX26_HUMAN	G	80	ENSP00000345487:E80G	ENSP00000345487:E80G	E	-	2	0	QRFP	132758808	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-1.142000	0.03203	-0.649000	0.05430	0.379000	0.24179	GAG	T|0.983;C|0.017	0.017	strong		0.667	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		C	133768987	T	C	133768987	3	2	22	1	0	0	0	0	1	0	0	0	12877	1551	54	3	174	3	QRFP	9	133768987	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66	133768987	7444444	5394	10502										
QRFP	347148	hgsc.bcm.edu	37	chr9	133769169	133769169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttctgtccagtagaggGaagcaggcgcccagcggcag	14	12	2	1	rs3847193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133769169G>A	ENST00000343079.1	-	1	56	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CCAGTAGAGGGAAGCAGGCGC	0.637													A|||	1786	0.356629	0.7436	0.2939	5008	,	,		19043	0.0714		0.2475	False		,,,				2504	0.2843				p.F19F		Atlas-SNP	.											.	QRFP	14	.	0			c.C57T						PASS	.	A		2880,1526		958,964,281	42	49	47		57	-0.2	0.9	9	dbSNP_108	47	2249,6351		298,1653,2349	no	coding-synonymous	QRFP	NM_198180.1		1256,2617,2630	AA,AG,GG		26.1512,34.6346,39.4356		19/137	133769169	5129,7877	2203	4300	6503	SO:0001819	synonymous_variant	347148	exon1			TAGAGGGAAGCAG	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.57C>T	9.37:g.133769169G>A		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_198180		Silent	SNP	ENST00000343079.1	37	CCDS6936.1																																																																																			G|0.629;A|0.371	0.371	strong		0.637	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		A	133769169	G	A	133769169	2	1	22	1	0	0	0	0	0	0	0	1	12877	1165	41	2		2	QRFP	9	133769169	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	182	133769169	7444262	5395	10503										
FIBCD1	84929	hgsc.bcm.edu	37	chr9	133787225	133787225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaagccgtctcggtacgcAtcccagccccggaagaagtt	10	15	1	1	rs6597650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133787225A>G	ENST00000372338.4	-	5	1142	c.900T>C	c.(898-900)gaT>gaC	p.D300D	FIBCD1_ENST00000253018.4_Silent_p.D142D|FIBCD1_ENST00000372337.2_Silent_p.D142D|FIBCD1_ENST00000448616.1_Silent_p.D300D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	300	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTCGGTACGCATCCCAGCCCC	0.672													G|||	3010	0.601038	0.8381	0.5965	5008	,	,		16495	0.6121		0.4046	False		,,,				2504	0.4744				p.D300D		Atlas-SNP	.											.	FIBCD1	34	.	0			c.T900C						PASS	.	G	,	3424,974		1338,748,113	47	39	42		900,900	-2	0.7	9	dbSNP_116	42	3425,5175		682,2061,1557	no	coding-synonymous,coding-synonymous	FIBCD1	NM_001145106.1,NM_032843.4	,	2020,2809,1670	GG,GA,AA		39.8256,22.1464,47.3073	,	300/462,300/462	133787225	6849,6149	2199	4300	6499	SO:0001819	synonymous_variant	84929	exon6			GTACGCATCCCAG	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.900T>C	9.37:g.133787225A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	130	51	0.392308	NM_001145106	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	1262	0.5778388278388278	404	0.8211382113821138	185	0.511049723756906	362	0.6328671328671329	311	0.4102902374670185	G	3.545	-0.092788	0.07053	0.778536	0.398256	ENSG00000130720	ENST00000444139	.	.	.	5.06	-1.98	0.07480	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999850689	.	.	.	.	.	.	T	0.23655	-1.0182	3	.	.	.	.	1.5364	0.02546	0.2048:0.2805:0.3178:0.1969	rs6597650;rs59798032;rs6597650	.	.	.	T	254	.	.	M	-	2	0	FIBCD1	132777046	0.000000	0.05858	0.664000	0.29753	0.275000	0.26752	-1.838000	0.01687	-0.680000	0.05211	-1.535000	0.00915	ATG	A|0.442;G|0.558	0.558	strong		0.672	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		G	133787225	A	G	133787225	2	3	22	1	0	0	0	0	0	0	0	1	5884	214	8	2		2	FIBCD1	9	133787225	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18056	133787225	7426206	5396	10504										
LAMC3	10319	hgsc.bcm.edu	37	chr9	133951230	133951230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacacagccacagagacacCgccaccaagatcgcagccac	7	18	1	2	rs3818800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:133951230C>T	ENST00000361069.4	+	21	3640	c.3507C>T	c.(3505-3507)acC>acT	p.T1169T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1169	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACAGAGACACCGCCACCAAGA	0.622													C|||	911	0.181909	0.3782	0.0965	5008	,	,		17905	0.1558		0.0666	False		,,,				2504	0.1227				p.T1169T		Atlas-SNP	.											.	LAMC3	167	.	0			c.C3507T						PASS	.	C		1340,3066	420.4+/-339.0	219,902,1082	45	39	41		3507	-10.2	0	9	dbSNP_107	41	579,8021	149.8+/-204.8	20,539,3741	no	coding-synonymous	LAMC3	NM_006059.3		239,1441,4823	TT,TC,CC		6.7326,30.4131,14.7547		1169/1576	133951230	1919,11087	2203	4300	6503	SO:0001819	synonymous_variant	10319	exon21			AGACACCGCCACC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3507C>T	9.37:g.133951230C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_006059	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																			C|0.830;T|0.170	0.170	strong		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133951230	C	T	133951230	2	4	22	1	0	0	0	0	0	0	0	1	8616	639	23	1		1	LAMC3	9	133951230	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	164005	133951230	7262201	5397	10505										
POMT1	10585	hgsc.bcm.edu	37	chr9	134393834	134393834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatgtctttttgcaggaAattgtgaacagaggatctga	12	4	2	4	rs62620174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:134393834A>G	ENST00000372228.3	+	14	1520	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	POMT1_ENST00000402686.3_Silent_p.E425E|POMT1_ENST00000354713.4_Silent_p.E395E|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000404875.2_Silent_p.E308E|POMT1_ENST00000423007.1_Silent_p.E425E|POMT1_ENST00000341012.7_Silent_p.E371E|POMT1_ENST00000419118.2_Silent_p.E273E|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000541219.1_Silent_p.E203E	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	447	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTTTGCAGGAAATTGTGAACA	0.418													A|||	111	0.0221645	0.0794	0.0086	5008	,	,		22316	0.0		0.0	False		,,,				2504	0.0				p.E447E		Atlas-SNP	.											.	POMT1	59	.	0			c.A1341G						PASS	.	A	,,,,	283,4123	154.4+/-187.8	8,267,1928	192	202	198		1275,1113,1275,924,1341	0.8	1	9	dbSNP_129	198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	8,267,6228	GG,GA,AA		0.0,6.4231,2.1759	,,,,	425/726,371/672,425/726,308/609,447/748	134393834	283,12723	2203	4300	6503	SO:0001819	synonymous_variant	10585	exon14			GCAGGAAATTGTG	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1341A>G	9.37:g.134393834A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	115	68	0.591304	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																			A|0.976;G|0.024	0.024	strong		0.418	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		G	134393834	A	G	134393834	2	3	22	1	0	0	0	0	0	0	0	1	12245	11	1	2		2	POMT1	9	134393834	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	442604	134393834	6819597	5398	10506										
UCK1	83549	hgsc.bcm.edu	37	chr9	134404337	134404337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgagcacaggtaccggcagGcagaactcctcgaaggccgg	15	13	0	1	rs11557925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:134404337G>A	ENST00000372215.4	-	5	690	c.597C>T	c.(595-597)tgC>tgT	p.C199C	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Silent_p.C204C|UCK1_ENST00000372210.3_Silent_p.C190C|UCK1_ENST00000372208.3_Intron	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	199					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTACCGGCAGGCAGAACTCCT	0.602													G|||	111	0.0221645	0.0794	0.0086	5008	,	,		17080	0.0		0.0	False		,,,				2504	0.0				p.C204C	Melanoma(42;523 1129 28385 43975 48113)	Atlas-SNP	.											.	UCK1	29	.	0			c.C612T						PASS	.	G	,	281,4125	153.7+/-187.2	8,265,1930	74	57	63		,597	3.7	1	9	dbSNP_120	63	0,8600		0,0,4300	no	intron,coding-synonymous	UCK1	NM_001135954.1,NM_031432.2	,	8,265,6230	AA,AG,GG		0.0,6.3777,2.1605	,	,199/278	134404337	281,12725	2203	4300	6503	SO:0001819	synonymous_variant	83549	exon5			CGGCAGGCAGAAC	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.597C>T	9.37:g.134404337G>A		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	35	20	0.571429	NM_001261451	Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Silent	SNP	ENST00000372215.4	37	CCDS6944.1																																																																																			G|0.976;A|0.024	0.024	strong		0.602	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		A	134404337	G	A	134404337	2	1	22	1	0	0	0	0	0	0	0	1	16920	1195	42	2		2	UCK1	9	134404337	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10503	134404337	6809094	5399	10507										
RAPGEF1	2889	hgsc.bcm.edu	37	chr9	134473655	134473655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagctcgtccacttcctcCtccgactgagccgactccag	8	18	0	1	rs11243446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:134473655C>T	ENST00000372189.3	-	13	2109	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	RAPGEF1_ENST00000372190.3_Silent_p.E680E|RAPGEF1_ENST00000372195.1_Silent_p.E679E	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	662					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACTTCCTCCTCCGACTGAG	0.587													C|||	468	0.0934505	0.1861	0.0418	5008	,	,		19644	0.0913		0.0229	False		,,,				2504	0.0798				p.E680E		Atlas-SNP	.											.	RAPGEF1	126	.	0			c.G2040A						PASS	.	C	,	622,3374		52,518,1428	57	60	59		1986,2040	1.1	1	9	dbSNP_120	59	172,8176		5,162,4007	no	coding-synonymous,coding-synonymous	RAPGEF1	NM_005312.2,NM_198679.1	,	57,680,5435	TT,TC,CC		2.0604,15.5656,6.4323	,	662/1078,680/1096	134473655	794,11550	1998	4174	6172	SO:0001819	synonymous_variant	2889	exon13			TTCCTCCTCCGAC	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1986G>A	9.37:g.134473655C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	48	0.6	NM_198679	Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	CCDS48047.1	190	0.08699633699633699	89	0.18089430894308944	20	0.055248618784530384	63	0.11013986013986014	18	0.023746701846965697	C	7.173	0.587989	0.13812	0.155656	0.020604	ENSG00000107263	ENST00000414781	.	.	.	4.69	1.11	0.20524	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.16335	-1.0406	3	.	.	.	.	4.7838	0.13215	0.0:0.5459:0.149:0.3051	rs11243446;rs11243446	.	.	.	R	90	.	.	G	-	1	0	RAPGEF1	133463476	0.512000	0.26186	0.980000	0.43619	0.729000	0.41735	-0.244000	0.08903	-0.007000	0.14345	-0.448000	0.05591	GGA	C|0.912;T|0.088	0.088	strong		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		T	134473655	C	T	134473655	2	4	22	1	0	0	0	0	0	0	0	1	13043	680	24	2		2	RAPGEF1	9	134473655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69318	134473655	6739776	5400	10508										
C9orf171	389799	hgsc.bcm.edu	37	chr9	135285802	135285802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttccggcatggagaacgaGcggctgggggtcgtgcggga	20	9	0	1	rs111465967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135285802G>A	ENST00000343036.2	+	1	192	c.144G>A	c.(142-144)gaG>gaA	p.E48E	C9orf171_ENST00000393216.2_Silent_p.E48E|C9orf171_ENST00000393215.3_Silent_p.E48E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	48										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TGGAGAACGAGCGGCTGGGGG	0.706													G|||	178	0.0355431	0.0552	0.0144	5008	,	,		12105	0.0208		0.0239	False		,,,				2504	0.0511				p.E48E		Atlas-SNP	.											.	C9orf171	53	.	0			c.G144A						PASS	.	G		209,4079		4,201,1939	20	17	18		144	4	1	9	dbSNP_132	18	326,8108		6,314,3897	no	coding-synonymous	C9orf171	NM_207417.1		10,515,5836	AA,AG,GG		3.8653,4.8741,4.2053		48/321	135285802	535,12187	2144	4217	6361	SO:0001819	synonymous_variant	389799	exon1			GAACGAGCGGCTG	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.144G>A	9.37:g.135285802G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	84	60	0.714286	NM_207417	Q147X1	Silent	SNP	ENST00000343036.2	37	CCDS6949.1																																																																																			G|0.959;A|0.041	0.041	strong		0.706	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135285802	G	A	135285802	2	1	22	1	0	0	0	0	0	0	0	1	2470	962	34	2		2	C9orf171	9	135285802	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	812147	135285802	5927629	5401	10509										
C9orf171	389799	hgsc.bcm.edu	37	chr9	135418389	135418389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgaggaagtacaagccGcccgtgaagctggacaccct	12	13	0	2	rs61308567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135418389G>A	ENST00000343036.2	+	6	843	c.795G>A	c.(793-795)ccG>ccA	p.P265P	C9orf171_ENST00000393216.2_Silent_p.P229P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	265										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AGTACAAGCCGCCCGTGAAGC	0.602													G|||	245	0.0489217	0.1762	0.0173	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.0				p.P265P		Atlas-SNP	.											.	C9orf171	53	.	0			c.G795A						PASS	.	G		590,3816	262.2+/-264.8	37,516,1650	156	136	143		795	-5.2	0.9	9	dbSNP_129	143	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	C9orf171	NM_207417.1		37,521,5945	AA,AG,GG		0.0581,13.3908,4.5748		265/321	135418389	595,12411	2203	4300	6503	SO:0001819	synonymous_variant	389799	exon6			CAAGCCGCCCGTG	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.795G>A	9.37:g.135418389G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_207417	Q147X1	Silent	SNP	ENST00000343036.2	37	CCDS6949.1																																																																																			G|0.948;A|0.052	0.052	strong		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135418389	G	A	135418389	2	1	22	1	0	0	0	0	0	0	0	1	2470	1074	38	1		1	C9orf171	9	135418389	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132587	135418389	5795042	5402	10510										
DDX31	64794	hgsc.bcm.edu	37	chr9	135493792	135493792	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctgcaagactgtggctcGctctcggatttcctgggggc	14	12	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135493792G>A	ENST00000372159.3	-	18	2216	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	DDX31_ENST00000372153.1_Intron|DDX31_ENST00000438527.3_Nonsense_Mutation_p.R560*	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	689						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACTGTGGCTCGCTCTCGGATT	0.507																																					p.R689X		Atlas-SNP	.											.	DDX31	76	.	0			c.C2065T						PASS	.						105	93	97					9																	135493792		2203	4300	6503	SO:0001587	stop_gained	64794	exon18			TGGCTCGCTCTCG	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2065C>T	9.37:g.135493792G>A	ENSP00000361232:p.Arg689*	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	120	48	0.4	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Nonsense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126157	0.98667	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	.	.	.	5.7	5.7	0.88788	.	0.264197	0.35320	N	0.003292	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-6.5596	13.6113	0.62080	0.0:0.0:0.8456:0.1544	.	.	.	.	X	689;689;560	.	ENSP00000361228:R689X	R	-	1	2	DDX31	134483613	1.000000	0.71417	0.965000	0.40720	0.956000	0.61745	3.757000	0.55212	2.686000	0.91538	0.591000	0.81541	CGA	.	.	none		0.507	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		A	135493792	G	A	135493792	4	1	22	1	0	0	0	0	0	1	0	0	4356	1095	38	1	502	1	DDX31	9	135493792	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75403	135493792	5719639	5403	10511										
C9orf98	158067	hgsc.bcm.edu	37	chr9	135601126	135601126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcccactctcgatgtattcGaagactgtgtatgggtcctg	10	10	1	1	rs28477720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135601126G>A	ENST00000298545.3	-	13	1910	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	463	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CGATGTATTCGAAGACTGTGT	0.532													G|||	151	0.0301518	0.1089	0.0086	5008	,	,		18753	0.0		0.001	False		,,,				2504	0.0				p.F463F		Atlas-SNP	.											.	AK8	45	.	0			c.C1389T						PASS	.	G		452,3954		24,404,1775	80	61	67		1389	-1.5	0.8	9	dbSNP_125	67	3,8597		0,3,4297	no	coding-synonymous	AK8	NM_152572.2		24,407,6072	AA,AG,GG		0.0349,10.2587,3.4984		463/480	135601126	455,12551	2203	4300	6503	SO:0001819	synonymous_variant	158067	exon13			GTATTCGAAGACT	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1389C>T	9.37:g.135601126G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	117	89	0.760684	NM_152572	A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	CCDS6954.1																																																																																			G|0.966;A|0.034	0.034	strong		0.532	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		A	135601126	G	A	135601126	2	1	22	1	0	0	0	0	0	0	0	1	2509	1049	37	1		1	C9orf98	9	135601126	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	107334	135601126	5612305	5404	10512										
C9orf98	158067	hgsc.bcm.edu	37	chr9	135753629	135753629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggatacggtgcggggcgAtagtggcgtccatgtagccg	20	8	0	0	rs2231400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135753629A>G	ENST00000298545.3	-	1	535	c.14T>C	c.(13-15)aTc>aCc	p.I5T	C9orf9_ENST00000372136.3_5'UTR|C9orf9_ENST00000350499.6_5'Flank|C9orf9_ENST00000356311.5_5'Flank|AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	5			I -> T (in dbSNP:rs2231400).		nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GTGCGGGGCGATAGTGGCGTC	0.701													G|||	587	0.117212	0.3555	0.0605	5008	,	,		12654	0.002		0.0427	False		,,,				2504	0.0307				p.I5T		Atlas-SNP	.											.	AK8	45	.	0			c.T14C						PASS	.	G	THR/ILE	1329,3077		228,873,1102	37	33	35		14	1.5	0	9	dbSNP_98	35	382,8216		14,354,3931	yes	missense	AK8	NM_152572.2	89	242,1227,5033	GG,GA,AA		4.4429,30.1634,13.1575	benign	5/480	135753629	1711,11293	2203	4299	6502	SO:0001583	missense	158067	exon1			GGGGCGATAGTGG	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.14T>C	9.37:g.135753629A>G	ENSP00000298545:p.Ile5Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_152572	A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	CCDS6954.1	209	0.09569597069597069	153	0.31097560975609756	21	0.058011049723756904	0	0.0	35	0.04617414248021108	G	0.022	-1.414199	0.01145	0.301634	0.044429	ENSG00000165695	ENST00000298545	T	0.65178	-0.14	4.62	1.49	0.22878	.	0.932048	0.09057	N	0.854846	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	4.000000000004E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29518	-1.0009	9	0.10111	T	0.7	-4.0202	11.827	0.52273	0.0741:0.4465:0.4795:0.0	rs2231400;rs2231400	5;5	Q8N9Z7;Q96MA6	.;KAD8_HUMAN	T	5	ENSP00000298545:I5T	ENSP00000298545:I5T	I	-	2	0	AK8	134743450	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.520000	0.22878	-0.182000	0.10602	-3.955000	0.00015	ATC	A|0.871;G|0.129	0.129	strong		0.701	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		G	135753629	A	G	135753629	3	3	22	1	0	0	0	0	1	0	0	0	2509	333	12	2	1477	2	C9orf98	9	135753629	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	152503	135753629	5459802	5405	10513										
GFI1B	8328	hgsc.bcm.edu	37	chr9	135864547	135864547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcaaaaccttcggccacGctgtgagcctggagcagcac	13	14	0	1	rs62638686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135864547G>A	ENST00000339463.3	+	9	1429	c.610G>A	c.(610-612)Gct>Act	p.A204T	GFI1B_ENST00000450530.1_Missense_Mutation_p.A204T|GFI1B_ENST00000372122.1_Missense_Mutation_p.A204T|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372124.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	204	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTTCGGCCACGCTGTGAGCCT	0.662													G|||	75	0.014976	0.0537	0.0043	5008	,	,		19398	0.0		0.001	False		,,,				2504	0.0				p.A204T		Atlas-SNP	.											.	GFI1B	37	.	0			c.G610A						PASS	.	G	,THR/ALA	228,4178	134.5+/-170.7	6,216,1981	63	50	55		,610	2.5	0.3	9	dbSNP_129	55	3,8597	2.2+/-6.3	0,3,4297	yes	intron,missense	GFI1B	NM_001135031.1,NM_004188.4	,58	6,219,6278	AA,AG,GG		0.0349,5.1748,1.7761	,benign	,204/331	135864547	231,12775	2203	4300	6503	SO:0001583	missense	8328	exon5			GGCCACGCTGTGA	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.610G>A	9.37:g.135864547G>A	ENSP00000344782:p.Ala204Thr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	121	41	0.338843	NM_004188	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	38	0.0173992673992674	34	0.06910569105691057	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	13.62	2.290120	0.40494	0.051748	3.49E-4	ENSG00000165702	ENST00000339463;ENST00000450530;ENST00000372122	T;T;T	0.07800	3.16;3.16;3.16	5.42	2.45	0.29901	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129163	0.51477	D	0.000098	T	0.00524	0.0017	N	0.21142	0.635	0.47245	D	0.99936	B	0.30727	0.292	B	0.31812	0.136	T	0.44877	-0.9299	10	0.72032	D	0.01	-23.2176	14.0232	0.64571	0.0:0.0:0.6057:0.3943	rs62638686	204	Q5VTD9	GFI1B_HUMAN	T	204	ENSP00000344782:A204T;ENSP00000409546:A204T;ENSP00000361195:A204T	ENSP00000344782:A204T	A	+	1	0	GFI1B	134854368	1.000000	0.71417	0.338000	0.25549	0.016000	0.09150	4.773000	0.62331	0.649000	0.30751	-0.122000	0.15005	GCT	A|0.017;G|0.983;T|0.000	0.017	strong		0.662	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		A	135864547	G	A	135864547	3	1	22	1	0	0	0	0	1	0	0	0	6340	1087	38	1	624	1	GFI1B	9	135864547	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	110918	135864547	5348884	5406	10514										
RALGDS	5900	hgsc.bcm.edu	37	chr9	135974054	135974054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctccgtgcttgaccttcaCtcccttggtgaaggtccgct	11	14	1	2	rs143209866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:135974054C>T	ENST00000372050.3	-	18	2686	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	RALGDS_ENST00000393157.3_Missense_Mutation_p.V888M|RALGDS_ENST00000542690.1_Missense_Mutation_p.V960M|RALGDS_ENST00000372062.3_Missense_Mutation_p.V860M|RALGDS_ENST00000393160.3_Missense_Mutation_p.V834M|RALGDS_ENST00000372047.3_Missense_Mutation_p.V877M|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	889					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGACCTTCACTCCCTTGGTG	0.542			T	CIITA	"PMBL, Hodgkin Lymphona, "								C|||	4	0.000798722	0.003	0.0	5008	,	,		21550	0.0		0.0	False		,,,				2504	0.0				p.V889M	Melanoma(189;762 2088 15384 21931 52515)	Atlas-SNP	.		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	.	RALGDS	75	.	0			c.G2665A						PASS	.	C	MET/VAL,MET/VAL	19,4387	26.2+/-53.5	0,19,2184	116	93	100		2500,2665	2.5	0.8	9	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RALGDS	NM_001042368.1,NM_006266.2	21,21	0,20,6483	TT,TC,CC		0.0116,0.4312,0.1538	possibly-damaging,possibly-damaging	834/860,889/915	135974054	20,12986	2203	4300	6503	SO:0001583	missense	5900	exon18			CCTTCACTCCCTT	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2665G>A	9.37:g.135974054C>T	ENSP00000361120:p.Val889Met	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	189	65	0.343915	NM_006266	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	CCDS6959.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.20	1.285630	0.23478	0.004312	1.16E-4	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.40476	1.52;1.04;1.52;1.5;1.68;1.03	5.37	2.55	0.30701	.	0.458064	0.20879	N	0.084033	T	0.34716	0.0907	L	0.46157	1.445	0.19945	N	0.999946	B;P;P;P;P;B	0.51240	0.349;0.943;0.694;0.758;0.943;0.35	B;B;B;B;B;B	0.41271	0.057;0.352;0.295;0.173;0.352;0.077	T	0.18053	-1.0349	10	0.72032	D	0.01	.	9.9724	0.41763	0.0:0.7793:0.0:0.2207	.	960;860;834;888;877;889	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	M	889;877;834;888;960;860	ENSP00000361120:V889M;ENSP00000361117:V877M;ENSP00000376867:V834M;ENSP00000376864:V888M;ENSP00000437518:V960M;ENSP00000361132:V860M	ENSP00000361117:V877M	V	-	1	0	RALGDS	134963875	0.000000	0.05858	0.797000	0.32132	0.292000	0.27327	0.038000	0.13862	0.259000	0.21709	0.561000	0.74099	GTG	C|0.998;T|0.002	0.002	strong		0.542	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		T	135974054	C	T	135974054	3	4	22	1	0	0	0	0	1	0	0	0	13016	565	20	2	83	2	RALGDS	9	135974054	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109507	135974054	5239377	5407	10515										
GBGT1	26301	hgsc.bcm.edu	37	chr9	136029474	136029474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatccggcgcatggatgtCtcctcccagtgggagtgacc	12	14	1	1	rs35808997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136029474C>T	ENST00000372040.3	-	7	845	c.534G>A	c.(532-534)gaG>gaA	p.E178E	GBGT1_ENST00000372043.3_Missense_Mutation_p.R172K|GBGT1_ENST00000372038.3_3'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Silent_p.E161E	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	178					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GCATGGATGTCTCCTCCCAGT	0.607													C|||	364	0.0726837	0.2632	0.0202	5008	,	,		17590	0.0		0.002	False		,,,				2504	0.0				p.E178E		Atlas-SNP	.											.	GBGT1	25	.	0			c.G534A						PASS	.	C		957,3449	360.1+/-315.1	109,739,1355	59	47	51		534	2.9	0.6	9	dbSNP_126	51	6,8592	4.3+/-15.6	0,6,4293	no	coding-synonymous	GBGT1	NM_021996.4		109,745,5648	TT,TC,CC		0.0698,21.7204,7.4054		178/348	136029474	963,12041	2203	4299	6502	SO:0001819	synonymous_variant	26301	exon7			GGATGTCTCCTCC	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.534G>A	9.37:g.136029474C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	118	69	0.584746	NM_021996	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Silent	SNP	ENST00000372040.3	37	CCDS6960.1	115	0.052655677655677656	109	0.22154471544715448	6	0.016574585635359115	0	0.0	0	0.0	C	6.220	0.408804	0.11812	0.217204	6.98E-4	ENSG00000148288	ENST00000372043	T	0.22134	1.97	5.16	2.91	0.33838	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999742809	.	.	.	.	.	.	T	0.13575	-1.0504	5	0.87932	D	0	-9.1051	9.1909	0.37197	0.0:0.6371:0.2769:0.086	rs35808997;rs62638706	.	.	.	K	172	ENSP00000361113:R172K	ENSP00000361113:R172K	R	-	2	0	GBGT1	135019295	0.950000	0.32346	0.650000	0.29550	0.003000	0.03518	0.078000	0.14761	1.145000	0.42336	-0.479000	0.04858	AGA	C|0.934;T|0.066	0.066	strong		0.607	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		T	136029474	C	T	136029474	2	4	22	1	0	0	0	0	0	0	0	1	6272	912	32	2		2	GBGT1	9	136029474	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55420	136029474	5183957	5408	10516										
OBP2B	29989	hgsc.bcm.edu	37	chr9	136083580	136083580	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattttcttctggatgcaccTatcctccctcctggaaaaca	6	13	2	0	rs2073870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136083580T>G	ENST00000372034.3	-	3	258	c.217A>C	c.(217-219)Agg>Cgg	p.R73R	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Splice_Site	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	73					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TGGATGCACCTATCCTCCCTC	0.647													G|||	3692	0.73722	0.7481	0.8429	5008	,	,		10803	0.6607		0.837	False		,,,				2504	0.6237				p.R73R		Atlas-SNP	.											.	OBP2B	20	.	0			c.A217C						PASS	.	G		3363,1043	382.5+/-324.5	1273,817,113	56	58	58		217	0.9	0	9	dbSNP_96	58	7188,1410	268.2+/-287.7	2990,1208,101	no	coding-synonymous	OBP2B	NM_014581.2		4263,2025,214	GG,GT,TT		16.3992,23.6723,18.8634		73/171	136083580	10551,2453	2203	4299	6502	SO:0001819	synonymous_variant	29989	exon3			TGCACCTATCCTC	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.217A>C	9.37:g.136083580T>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_014581	Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	ENST00000372034.3	37	CCDS6961.1	1529	0.700091575091575	292	0.5934959349593496	293	0.8093922651933702	348	0.6083916083916084	596	0.7862796833773087	G	2.664	-0.279128	0.05642	0.763277	0.836008	ENSG00000171102	ENST00000372032	.	.	.	1.91	0.93	0.19454	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1884	0.20510	0.0:0.0:0.4618:0.5382	rs2073870;rs2073870	.	.	.	.	-1	.	.	.	-	.	.	OBP2B	135073401	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.862000	0.04263	-0.059000	0.13154	-1.114000	0.02060	.	T|0.223;G|0.777	0.777	strong		0.647	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		G	136083580	T	G	136083580	2	3	22	1	0	0	0	0	0	0	0	1	10811	1521	53	5		5	OBP2B	9	136083580	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	54106	136083580	5129851	5409	10517										
MED22	6837	hgsc.bcm.edu	37	chr9	136208405	136208405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatgggagtgggcaggggCtgccacctgtagggggccag	20	9	0	0	rs145653063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136208405C>T	ENST00000491289.1	-	5	1134	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	MED22_ENST00000344469.5_3'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.A185T|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	185						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGGCAGGGGCTGCCACCTGT	0.677													C|||	52	0.0103834	0.0378	0.0029	5008	,	,		15147	0.0		0.0	False		,,,				2504	0.0				p.A185T		Atlas-SNP	.											.	MED22	13	.	0			c.G553A						PASS	.	C	THR/ALA,	116,4286	85.3+/-124.0	2,112,2087	22	26	25		553,	1.2	0	9	dbSNP_134	25	5,8589	3.7+/-12.6	0,5,4292	no	missense,utr-3	MED22	NM_133640.3,NM_181491.1	58,	2,117,6379	TT,TC,CC		0.0582,2.6352,0.9311	benign,	185/201,	136208405	121,12875	2201	4297	6498	SO:0001583	missense	6837	exon5			CAGGGGCTGCCAC		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.553G>A	9.37:g.136208405C>T	ENSP00000420393:p.Ala185Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	115	39	0.33913	NM_133640	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	CCDS6963.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	C	0.576	-0.838931	0.02692	0.026352	5.82E-4	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.15	1.23	0.21249	.	0.579278	0.18389	N	0.142701	T	0.02418	0.0074	N	0.04880	-0.145	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	9	0.05620	T	0.96	-4.6055	2.9823	0.05957	0.1951:0.4783:0.0:0.3266	.	185	Q15528	MED22_HUMAN	T	185	.	ENSP00000342343:A185T	A	-	1	0	MED22	135198226	0.879000	0.30193	0.041000	0.18516	0.049000	0.14656	1.605000	0.36815	0.146000	0.19002	0.563000	0.77884	GCC	C|0.989;T|0.011	0.011	strong		0.677	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		T	136208405	C	T	136208405	3	4	22	1	0	0	0	0	1	0	0	0	9440	797	28	2	53	2	MED22	9	136208405	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124825	136208405	5005026	5410	10518										
DBH	1621	hgsc.bcm.edu	37	chr9	136507473	136507473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccggagttgccctcagacGcgtgcaccatggaggtccaa	12	13	1	1	rs5320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136507473G>A	ENST00000393056.2	+	3	643	c.631G>A	c.(631-633)Gcg>Acg	p.A211T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	211			A -> T (in dbSNP:rs5320). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:3443096}.		behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCCTCAGACGCGTGCACCAT	0.607													G|||	510	0.101837	0.171	0.0447	5008	,	,		19685	0.1121		0.0616	False		,,,				2504	0.0798				p.A211T		Atlas-SNP	.											.	DBH	86	.	0			c.G631A						PASS	.	G	THR/ALA	635,3771	272.2+/-270.6	35,565,1603	69	64	66		631	-4.7	0	9	dbSNP_52	66	482,8118	140.1+/-196.7	18,446,3836	yes	missense	DBH	NM_000787.3	58	53,1011,5439	AA,AG,GG		5.6047,14.4122,8.5883	benign	211/618	136507473	1117,11889	2203	4300	6503	SO:0001583	missense	1621	exon3			TCAGACGCGTGCA	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.631G>A	9.37:g.136507473G>A	ENSP00000376776:p.Ala211Thr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	106	27	0.254717	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	231	0.10576923076923077	87	0.17682926829268292	19	0.052486187845303865	76	0.13286713286713286	49	0.06464379947229551	G	0.079	-1.187984	0.01607	0.144122	0.056047	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.34072	1.38;1.38	4.67	-4.71	0.03279	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	1.057760	0.07311	N	0.875897	T	0.00039	0.0001	N	0.01242	-0.935	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.29671	-1.0004	9	0.22109	T	0.4	-12.7818	5.3345	0.15949	0.3613:0.1174:0.4357:0.0856	rs5320;rs61440943;rs5320	211	P09172	DOPO_HUMAN	T	211;148;148	ENSP00000376776:A211T;ENSP00000263611:A148T	ENSP00000263611:A148T	A	+	1	0	DBH	135497294	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.137000	0.10389	-0.677000	0.05231	-0.573000	0.04149	GCG	G|0.905;A|0.095	0.095	strong		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		A	136507473	G	A	136507473	3	1	22	1	0	0	0	0	1	0	0	0	4250	1087	38	1	641	1	DBH	9	136507473	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	299068	136507473	4705958	5411	10519										
DBH	1621	hgsc.bcm.edu	37	chr9	136507577	136507577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggcttctctcggcaccaCattatcaaggtacgtgcggg	12	11	2	0	rs5322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136507577C>T	ENST00000393056.2	+	3	747	c.735C>T	c.(733-735)caC>caT	p.H245H		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	245					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTCGGCACCACATTATCAAGG	0.612													C|||	102	0.0203674	0.0333	0.0101	5008	,	,		20395	0.003		0.0159	False		,,,				2504	0.0327				p.H245H		Atlas-SNP	.											.	DBH	86	.	0			c.C735T						PASS	.	C		145,4261	97.1+/-135.8	0,145,2058	49	45	46		735	2.3	1	9	dbSNP_52	46	169,8431	74.8+/-137.4	2,165,4133	no	coding-synonymous	DBH	NM_000787.3		2,310,6191	TT,TC,CC		1.9651,3.291,2.4143		245/618	136507577	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	1621	exon3			GCACCACATTATC	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.735C>T	9.37:g.136507577C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	38	0.703704	NM_000787	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																			C|0.978;T|0.022	0.022	strong		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136507577	C	T	136507577	2	4	22	1	0	0	0	0	0	0	0	1	4250	477	17	2		2	DBH	9	136507577	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104	136507577	4705854	5412	10520										
DBH	1621	hgsc.bcm.edu	37	chr9	136509370	136509370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccagaggaagccggccttGccttcgggggtccagggtcc	15	14	0	1	rs4531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136509370G>T	ENST00000393056.2	+	5	964	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	318			A -> S (in allele DBH-B; dbSNP:rs4531). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:10490716}.		behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGCCGGCCTTGCCTTCGGGGG	0.607													G|||	327	0.0652955	0.1316	0.0346	5008	,	,		18372	0.003		0.0716	False		,,,				2504	0.0552				p.A318S		Atlas-SNP	.											.	DBH	86	.	0			c.G952T						PASS	.	G	SER/ALA	530,3876	241.2+/-251.7	34,462,1707	99	94	96		952	-0.9	0	9	dbSNP_52	96	668,7932	167.5+/-219.3	26,616,3658	yes	missense	DBH	NM_000787.3	99	60,1078,5365	TT,TG,GG		7.7674,12.0291,9.2111	benign	318/618	136509370	1198,11808	2203	4300	6503	SO:0001583	missense	1621	exon5			GGCCTTGCCTTCG	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.952G>T	9.37:g.136509370G>T	ENSP00000376776:p.Ala318Ser	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	75	49	0.653333	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	137	0.06272893772893773	66	0.13414634146341464	16	0.04419889502762431	1	0.0017482517482517483	54	0.0712401055408971	G	6.768	0.510628	0.12883	0.120291	0.077674	ENSG00000123454	ENST00000393056	T	0.28255	1.62	5.13	-0.852	0.10713	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.296425	0.37012	N	0.002299	T	0.00271	0.0008	L	0.31752	0.955	0.58432	P	1.0000000000287557E-6	B	0.22276	0.067	B	0.32393	0.145	T	0.12811	-1.0533	9	0.25751	T	0.34	-27.7151	18.7539	0.91825	0.0:0.6379:0.3621:0.0	rs4531;rs4531	318	P09172	DOPO_HUMAN	S	318	ENSP00000376776:A318S	ENSP00000376776:A318S	A	+	1	0	DBH	135499191	0.697000	0.27767	0.000000	0.03702	0.003000	0.03518	0.926000	0.28804	-0.130000	0.11599	-0.311000	0.09066	GCC	G|0.913;T|0.087	0.087	strong		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136509370	G	T	136509370	3	4	22	1	0	0	0	0	1	0	0	0	4250	1319	46	4	970	4	DBH	9	136509370	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1793	136509370	4704061	5413	10521										
DBH	1621	hgsc.bcm.edu	37	chr9	136521749	136521749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacgccggcttcctgcaGaagtacttccacctcatcaa	9	14	2	1	rs78516399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136521749G>A	ENST00000393056.2	+	10	1551	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	513					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCTTCCTGCAGAAGTACTTCC	0.622													G|||	33	0.00658946	0.025	0.0	5008	,	,		17798	0.0		0.0	False		,,,				2504	0.0				p.Q513Q		Atlas-SNP	.											.	DBH	86	.	0			c.G1539A						PASS	.	G		77,4329	68.7+/-106.4	0,77,2126	47	44	45		1539	1.7	1	9	dbSNP_131	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DBH	NM_000787.3		0,78,6425	AA,AG,GG		0.0116,1.7476,0.5997		513/618	136521749	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	1621	exon10			CCTGCAGAAGTAC	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1539G>A	9.37:g.136521749G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	31	18	0.580645	NM_000787	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																			G|0.993;A|0.007	0.007	strong		0.622	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		A	136521749	G	A	136521749	2	1	22	1	0	0	0	0	0	0	0	1	4250	933	33	2		2	DBH	9	136521749	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12379	136521749	4691682	5414	10522										
SARDH	1757	hgsc.bcm.edu	37	chr9	136535746	136535746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcgccggcggaggcctgCggcccgctgctgctccaggg	18	16	0	0	rs61685718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136535746C>T	ENST00000371872.4	-	19	2712	c.2455G>A	c.(2455-2457)Gca>Aca	p.A819T	SARDH_ENST00000422262.2_Missense_Mutation_p.A651T|SARDH_ENST00000371868.1_Missense_Mutation_p.A247T|SARDH_ENST00000439388.1_Missense_Mutation_p.A819T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	819					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGGAGGCCTGCGGCCCGCTGC	0.697													C|||	75	0.014976	0.0545	0.0043	5008	,	,		13059	0.0		0.0	False		,,,				2504	0.0				p.A819T		Atlas-SNP	.											SARDH,colon,carcinoma,0,1	SARDH	112	1	0			c.G2455A						PASS	.	C	THR/ALA,THR/ALA	197,4115		3,191,1962	11	11	11		2455,2455	-10	0	9	dbSNP_129	11	6,8490		0,6,4242	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	58,58	3,197,6204	TT,TC,CC		0.0706,4.5686,1.5849	benign,benign	819/919,819/919	136535746	203,12605	2156	4248	6404	SO:0001583	missense	1757	exon19			GGCCTGCGGCCCG		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2455G>A	9.37:g.136535746C>T	ENSP00000360938:p.Ala819Thr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	119	41	0.344538	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	27	0.012362637362637362	24	0.04878048780487805	3	0.008287292817679558	0	0.0	0	0.0	C	5.568	0.289698	0.10567	0.045686	7.06E-4	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.01	-10.0	0.00425	Glycine cleavage T-protein, C-terminal barrel (1);	1.295140	0.05116	N	0.489711	T	0.12774	0.0310	N	0.11131	0.1	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.26224	-1.0109	10	0.30854	T	0.27	5.8048	0.49	0.00562	0.358:0.2261:0.1855:0.2303	rs61685718;rs61745311	819;247	Q9UL12;Q5SYV2	SARDH_HUMAN;.	T	819;247;819;651	ENSP00000360938:A819T;ENSP00000360934:A247T;ENSP00000403084:A819T;ENSP00000415537:A651T	ENSP00000360934:A247T	A	-	1	0	SARDH	135525567	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	-0.744000	0.04839	-2.619000	0.00441	-0.485000	0.04761	GCA	C|0.987;T|0.013	0.013	strong		0.697	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136535746	C	T	136535746	3	4	22	1	0	0	0	0	1	0	0	0	13841	768	27	1	313	1	SARDH	9	136535746	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13997	136535746	4677685	5415	10523										
SARDH	1757	hgsc.bcm.edu	37	chr9	136577770	136577770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccatgcatgtccttctcCgggcgcccatggatgatcca	10	14	1	1	rs147188337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136577770C>T	ENST00000371872.4	-	10	1556	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	SARDH_ENST00000422262.2_Silent_p.P265P|SARDH_ENST00000439388.1_Silent_p.P433P	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	433					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTCCTTCTCCGGGCGCCCAT	0.642													C|||	12	0.00239617	0.0091	0.0	5008	,	,		16347	0.0		0.0	False		,,,				2504	0.0				p.P433P		Atlas-SNP	.											.	SARDH	112	.	0			c.G1299A						PASS	.	C	,	54,4352	54.9+/-90.9	0,54,2149	69	68	69		1299,1299	-9.4	0.5	9	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	0,55,6448	TT,TC,CC		0.0116,1.2256,0.4229	,	433/919,433/919	136577770	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	1757	exon10			CTTCTCCGGGCGC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1299G>A	9.37:g.136577770C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	58	42	0.724138	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			C|0.996;T|0.004	0.004	strong		0.642	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136577770	C	T	136577770	2	4	22	1	0	0	0	0	0	0	0	1	13841	639	23	1		1	SARDH	9	136577770	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42024	136577770	4635661	5416	10524										
SARDH	1757	hgsc.bcm.edu	37	chr9	136595253	136595253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacacccgcgacccgccgCaccccaaaatcatccgtcca	5	22	1	0	rs35457000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136595253C>T	ENST00000371872.4	-	5	1004	c.747G>A	c.(745-747)gtG>gtA	p.V249V	SARDH_ENST00000298628.5_Silent_p.V249V|SARDH_ENST00000371867.1_Silent_p.V160V|SARDH_ENST00000422262.2_Silent_p.V81V|SARDH_ENST00000439388.1_Silent_p.V249V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	249					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGACCCGCCGCACCCCAAAAT	0.577													C|||	82	0.0163738	0.0598	0.0043	5008	,	,		17220	0.0		0.0	False		,,,				2504	0.0				p.V249V		Atlas-SNP	.											.	SARDH	112	.	0			c.G747A						PASS	.	C	,	174,4232	114.6+/-152.6	5,164,2034	92	85	88		747,747	3.1	1	9	dbSNP_126	88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	5,166,6332	TT,TC,CC		0.0233,3.9492,1.3532	,	249/919,249/919	136595253	176,12830	2203	4300	6503	SO:0001819	synonymous_variant	1757	exon5			CCGCCGCACCCCA		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.747G>A	9.37:g.136595253C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	113	40	0.353982	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			C|0.985;T|0.015	0.015	strong		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136595253	C	T	136595253	2	4	22	1	0	0	0	0	0	0	0	1	13841	697	25	2		2	SARDH	9	136595253	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17483	136595253	4618178	5417	10525										
VAV2	7410	hgsc.bcm.edu	37	chr9	136633606	136633606	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccagccctggtctccgccGatgcggctgtagatcctcac	10	17	2	1	rs9722384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136633606G>A	ENST00000371850.3	-	29	2578	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	VAV2_ENST00000371851.1_Silent_p.I839I|VAV2_ENST00000406606.3_Silent_p.I810I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	849	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGTCTCCGCCGATGCGGCTGT	0.662													G|||	487	0.0972444	0.3086	0.0461	5008	,	,		17818	0.003		0.0308	False		,,,				2504	0.0133				p.I849I		Atlas-SNP	.											.	VAV2	165	.	0			c.C2547T						PASS	.	G	,	1178,3228	413.3+/-336.4	166,846,1191	84	78	80		2547,2430	-3.2	1	9	dbSNP_119	80	280,8320	104.4+/-165.4	8,264,4028	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	174,1110,5219	AA,AG,GG		3.2558,26.7363,11.2102	,	849/879,810/840	136633606	1458,11548	2203	4300	6503	SO:0001819	synonymous_variant	7410	exon29			TCCGCCGATGCGG		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2547C>T	9.37:g.136633606G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	95	68	0.715789	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	CCDS48053.1																																																																																			G|0.895;A|0.105	0.105	strong		0.662	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136633606	G	A	136633606	2	1	22	1	0	0	0	0	0	0	0	1	17129	1048	37	1		1	VAV2	9	136633606	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38353	136633606	4579825	5418	10526										
VAV2	7410	hgsc.bcm.edu	37	chr9	136640122	136640122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaggtaggtcccgctggcGtgggacttgagcaggttgtc	16	9	1	1	rs7875953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136640122G>A	ENST00000371850.3	-	25	2101	c.2070C>T	c.(2068-2070)caC>caT	p.H690H	VAV2_ENST00000371851.1_Silent_p.H680H|VAV2_ENST00000406606.3_Silent_p.H680H	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	690	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCCGCTGGCGTGGGACTTGA	0.617													G|||	132	0.0263578	0.0923	0.0115	5008	,	,		18617	0.0		0.002	False		,,,				2504	0.0				p.H690H		Atlas-SNP	.											VAV2_ENST00000371850,colon,carcinoma,0,2	VAV2	165	2	0			c.C2070T						PASS	.	G	,	426,3980	207.2+/-228.6	26,374,1803	71	64	66		2070,2040	-3.2	1	9	dbSNP_116	66	5,8593	3.0+/-9.4	0,5,4294	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	26,379,6097	AA,AG,GG		0.0582,9.6686,3.3144	,	690/879,680/840	136640122	431,12573	2203	4299	6502	SO:0001819	synonymous_variant	7410	exon25			GCTGGCGTGGGAC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2070C>T	9.37:g.136640122G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	135	86	0.637037	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	CCDS48053.1																																																																																			G|0.963;A|0.037	0.037	strong		0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136640122	G	A	136640122	2	1	22	1	0	0	0	0	0	0	0	1	17129	1136	40	1		1	VAV2	9	136640122	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6516	136640122	4573309	5419	10527										
VAV2	7410	hgsc.bcm.edu	37	chr9	136662928	136662928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtactccccgtagatcagAagcctggacggtgcacacac	10	14	1	2	rs7865299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136662928A>G	ENST00000371850.3	-	10	871	c.840T>C	c.(838-840)ctT>ctC	p.L280L	VAV2_ENST00000371851.1_Silent_p.L275L|VAV2_ENST00000406606.3_Silent_p.L275L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	280	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CGTAGATCAGAAGCCTGGACG	0.587													G|||	1306	0.260783	0.5129	0.2507	5008	,	,		16522	0.0863		0.169	False		,,,				2504	0.2014				p.L280L		Atlas-SNP	.											.	VAV2	165	.	0			c.T840C						PASS	.	G	,	2022,2384	608.6+/-391.2	484,1054,665	100	85	90		840,825	-1	1	9	dbSNP_116	90	1748,6852	733.1+/-406.9	180,1388,2732	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	664,2442,3397	GG,GA,AA		20.3256,45.892,28.9866	,	280/879,275/840	136662928	3770,9236	2203	4300	6503	SO:0001819	synonymous_variant	7410	exon10			GATCAGAAGCCTG		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.840T>C	9.37:g.136662928A>G		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	CCDS48053.1																																																																																			A|0.741;G|0.259	0.259	strong		0.587	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			G	136662928	A	G	136662928	2	3	22	1	0	0	0	0	0	0	0	1	17129	233	9	2		2	VAV2	9	136662928	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22806	136662928	4550503	5420	10528										
BRD3	8019	hgsc.bcm.edu	37	chr9	136913355	136913355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgctgtcgcagtagcgTaggtgctccgacagcttgcc	14	11	0	0	rs464826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:136913355T>C	ENST00000303407.7	-	6	1121	c.936A>G	c.(934-936)ctA>ctG	p.L312L	BRD3_ENST00000357885.2_Silent_p.L312L|BRD3_ENST00000371834.2_Silent_p.L312L	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	312					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCAGTAGCGTAGGTGCTCCG	0.647			T	C15orf55	lethal midline carcinoma of young people								C|||	3631	0.72504	0.8691	0.5418	5008	,	,		16109	0.6845		0.6759	False		,,,				2504	0.7526				p.L312L		Atlas-SNP	.		Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	BRD3	82	.	0			c.A936G						PASS	.	C		3601,803	316.1+/-294.4	1471,659,72	81	60	67		936	3.9	1	9	dbSNP_80	67	5602,2998	460.7+/-365.2	1833,1936,531	no	coding-synonymous	BRD3	NM_007371.3		3304,2595,603	CC,CT,TT		34.8605,18.2334,29.2295		312/727	136913355	9203,3801	2202	4300	6502	SO:0001819	synonymous_variant	8019	exon6			GTAGCGTAGGTGC		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.936A>G	9.37:g.136913355T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_007371	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	CCDS6980.1																																																																																			T|0.288;C|0.712	0.712	strong		0.647	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		C	136913355	T	C	136913355	2	2	22	1	0	0	0	0	0	0	0	1	1503	1625	57	2		2	BRD3	9	136913355	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	250427	136913355	4300076	5421	10529										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137619195	137619195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacagccctgactgtgacacCgcagtacctgacaccccaca	7	17	0	3	rs3124299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:137619195C>T	ENST00000371817.3	+	5	1152	c.738C>T	c.(736-738)acC>acT	p.T246T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	246	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTGTGACACCGCAGTACCTG	0.537													C|||	1716	0.342652	0.0424	0.5519	5008	,	,		18306	0.4077		0.4652	False		,,,				2504	0.407				p.T246T		Atlas-SNP	.											.	COL5A1	323	.	0			c.C738T						PASS	.	C		427,3979	204.8+/-226.9	33,361,1809	107	94	98		738	-8.4	0	9	dbSNP_103	98	3893,4707	545.0+/-384.7	895,2103,1302	yes	coding-synonymous	COL5A1	NM_000093.3		928,2464,3111	TT,TC,CC		45.2674,9.6913,33.2154		246/1839	137619195	4320,8686	2203	4300	6503	SO:0001819	synonymous_variant	1289	exon5			TGACACCGCAGTA	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.738C>T	9.37:g.137619195C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	125	42	0.336	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			C|0.665;T|0.335	0.335	strong		0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137619195	C	T	137619195	2	4	22	1	0	0	0	0	0	0	0	1	3696	639	23	1		1	COL5A1	9	137619195	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	705840	137619195	3594236	5422	10530										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137630361	137630361	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggcccagaaggccccgcGgtgagtatccggctttatcc	12	15	0	2	rs61729545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:137630361G>A	ENST00000371817.3	+	10	1845	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	477	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGGCCCCGCGGTGAGTATCC	0.637													G|||	351	0.0700879	0.2549	0.0202	5008	,	,		15920	0.0		0.0	False		,,,				2504	0.0				p.A477A		Atlas-SNP	.											COL5A1,NS,carcinoma,+1,1	COL5A1	323	1	0			c.G1431A						PASS	.	G		894,3512	343.1+/-307.5	90,714,1399	42	46	44		1431	-5.2	0.9	9	dbSNP_129	44	13,8587	7.1+/-27.0	0,13,4287	yes	coding-synonymous-near-splice	COL5A1	NM_000093.3		90,727,5686	AA,AG,GG		0.1512,20.2905,6.9737		477/1839	137630361	907,12099	2203	4300	6503	SO:0001630	splice_region_variant	1289	exon10			CCCCGCGGTGAGT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1431+1G>A	9.37:g.137630361G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	160	100	0.625	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			G|0.937;A|0.063	0.063	strong		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Silent	A	137630361	G	A	137630361	5	1	22	1	0	0	0	0	0	0	1	0	3696	1130	39	1	1469	1	COL5A1	9	137630361	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11166	137630361	3583070	5423	10531										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137707834	137707834	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggtgaacccgggcagacGgtgagtccacaatctgggct	15	10	1	3	rs3827848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:137707834G>A	ENST00000371817.3	+	52	4536	c.4122G>A	c.(4120-4122)acG>acA	p.T1374T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1374	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T1374T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGCAGACGGTGAGTCCAC	0.552													G|||	650	0.129792	0.1014	0.0994	5008	,	,		20008	0.1696		0.1392	False		,,,				2504	0.1391				p.T1374T		Atlas-SNP	.											COL5A1,NS,carcinoma,0,2	COL5A1	323	2	2	Substitution - coding silent(2)	prostate(1)|stomach(1)	c.G4122A						PASS	.	G		486,3920	228.1+/-243.1	34,418,1751	143	131	135		4122	3.2	1	9	dbSNP_107	135	1358,7242	264.8+/-285.7	114,1130,3056	yes	coding-synonymous-near-splice	COL5A1	NM_000093.3		148,1548,4807	AA,AG,GG		15.7907,11.0304,14.1781		1374/1839	137707834	1844,11162	2203	4300	6503	SO:0001630	splice_region_variant	1289	exon52			GCAGACGGTGAGT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4122+1G>A	9.37:g.137707834G>A		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	237	76	0.320675	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			G|0.865;A|0.135	0.135	strong		0.552	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Silent	A	137707834	G	A	137707834	5	1	22	1	0	0	0	0	0	0	1	0	3696	1130	39	1	4328	1	COL5A1	9	137707834	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77473	137707834	3505597	5424	10532										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137711997	137711997	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgggctcatcggtcctccGggtgaacagggtgagaaggg	17	9	1	2	rs2228560	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:137711997G>C	ENST00000371817.3	+	58	4896	c.4482G>C	c.(4480-4482)ccG>ccC	p.P1494P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1494	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGTCCTCCGGGTGAACAGG	0.627													G|||	2044	0.408147	0.5416	0.3256	5008	,	,		21008	0.375		0.3439	False		,,,				2504	0.3865				p.P1494P		Atlas-SNP	.											.	COL5A1	323	.	0			c.G4482C						PASS	.	G		2257,2149		590,1077,536	101	95	97		4482	-9.4	0	9	dbSNP_107	97	3273,5327		731,1811,1758	no	coding-synonymous	COL5A1	NM_000093.3		1321,2888,2294	CC,CG,GG		38.0581,48.7744,42.5188		1494/1839	137711997	5530,7476	2203	4300	6503	SO:0001819	synonymous_variant	1289	exon58			TCCTCCGGGTGAA	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4482G>C	9.37:g.137711997G>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	123	41	0.333333	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			A|0.009;C|0.408;G|0.583	0.408	strong		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		C	137711997	G	C	137711997	2	2	22	1	0	0	0	0	0	0	0	1	3696	1103	39	4		4	COL5A1	9	137711997	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4163	137711997	3501434	5425	10533										
FCN2	2220	hgsc.bcm.edu	37	chr9	137779026	137779026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacaggagattccctgaCgttccacaacaaccagtcct	7	15	0	2	rs17549193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:137779026C>T	ENST00000291744.6	+	8	717	c.707C>T	c.(706-708)aCg>aTg	p.T236M	FCN2_ENST00000350339.2_Missense_Mutation_p.T198M	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	236	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		T -> M (in dbSNP:rs17549193).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GATTCCCTGACGTTCCACAAC	0.468													C|||	1246	0.248802	0.3646	0.2493	5008	,	,		24104	0.0665		0.2753	False		,,,				2504	0.2526				p.T236M		Atlas-SNP	.											.	FCN2	55	.	0			c.C707T	GRCh37	CM051922	FCN2	M	rs17549193	PASS	.	C	MET/THR,MET/THR	1500,2906	479.0+/-358.4	252,996,955	161	141	148	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	707,593	2.1	0	9	dbSNP_123	148	2495,6105	409.4+/-349.8	363,1769,2168	yes	missense,missense	FCN2	NM_004108.2,NM_015837.2	81,81	615,2765,3123	TT,TC,CC		29.0116,34.0445,30.7166	benign,benign	236/314,198/276	137779026	3995,9011	2203	4300	6503	SO:0001583	missense	2220	exon8			CCCTGACGTTCCA	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.707C>T	9.37:g.137779026C>T	ENSP00000291744:p.Thr236Met	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	142	98	0.690141	NM_004108	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	528	0.24175824175824176	194	0.3943089430894309	93	0.2569060773480663	29	0.050699300699300696	212	0.2796833773087071	C	9.210	1.030738	0.19512	0.340445	0.290116	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.79247	-1.25;-1.25	4.05	2.06	0.26882	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.557101	0.14767	N	0.299635	T	0.00012	0.0000	M	0.75884	2.315	0.44395	P	0.0026960000000000317	P;P	0.44578	0.838;0.57	B;B	0.30855	0.121;0.1	T	0.11084	-1.0602	9	0.46703	T	0.11	.	6.6263	0.22830	0.1744:0.7225:0.0:0.1031	rs57863140	198;236	Q15485-2;Q15485	.;FCN2_HUMAN	M	198;236	ENSP00000291741:T198M;ENSP00000291744:T236M	ENSP00000291744:T236M	T	+	2	0	FCN2	136918847	0.011000	0.17503	0.023000	0.16930	0.042000	0.13812	0.771000	0.26633	0.628000	0.30357	0.563000	0.77884	ACG	C|0.716;T|0.284	0.284	strong		0.468	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		T	137779026	C	T	137779026	3	4	22	1	0	0	0	0	1	0	0	0	5792	536	19	1	737	1	FCN2	9	137779026	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67029	137779026	3434405	5426	10534										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138376649	138376649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccacccgcgttggctgTctgtggtctcgttgctgact	14	12	2	1	rs3748192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138376649T>C	ENST00000356818.2	+	4	842	c.293T>C	c.(292-294)gTc>gCc	p.V98A	PPP1R26_ENST00000605660.1_Missense_Mutation_p.V98A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.V98A|PPP1R26_ENST00000605286.1_Missense_Mutation_p.V98A|PPP1R26_ENST00000604351.1_Missense_Mutation_p.V98A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	98			V -> A (in dbSNP:rs3748192). {ECO:0000269|PubMed:15489334}.		negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCGTTGGCTGTCTGTGGTCTC	0.627													C|||	2095	0.418331	0.2905	0.4899	5008	,	,		16315	0.6528		0.2117	False		,,,				2504	0.5112				p.V98A		Atlas-SNP	.											KIAA0649,NS,carcinoma,0,1	.	.	1	0			c.T293C						PASS	.	C	ALA/VAL	1113,3291		132,849,1221	41	48	46		293	3.4	0.1	9	dbSNP_107	46	1777,6821		195,1387,2717	no	missense	KIAA0649	NM_014811.3	64	327,2236,3938	CC,CT,TT		20.6676,25.2725,22.2273	benign	98/1210	138376649	2890,10112	2202	4299	6501	SO:0001583	missense	9858	exon4			TGGCTGTCTGTGG	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.293T>C	9.37:g.138376649T>C	ENSP00000349274:p.Val98Ala	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	50	34	0.68	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	833	0.3814102564102564	122	0.24796747967479674	158	0.43646408839779005	394	0.6888111888111889	159	0.20976253298153033	C	0.007	-2.011636	0.00422	0.252725	0.206676	ENSG00000196422	ENST00000356818;ENST00000401470	T;T	0.46063	0.88;0.88	4.39	3.41	0.39046	.	0.854487	0.10136	N	0.711490	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45116	-0.9283	9	0.02654	T	1	-12.6961	7.3836	0.26870	0.2105:0.6922:0.0:0.0973	rs3748192;rs17846422;rs17859468;rs3748192	98	Q5T8A7	PPR26_HUMAN	A	98	ENSP00000349274:V98A;ENSP00000385826:V98A	ENSP00000349274:V98A	V	+	2	0	KIAA0649	137516470	0.006000	0.16342	0.106000	0.21319	0.067000	0.16453	1.185000	0.32065	1.085000	0.41206	-0.119000	0.15052	GTC	T|0.723;C|0.277	0.277	strong		0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		C	138376649	T	C	138376649	3	2	22	1	0	0	0	0	1	0	0	0	8187	1667	58	2	295	2	KIAA0649	9	138376649	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	597623	138376649	2836782	5427	10535										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138376972	138376972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccaggtgggatccagcAaggaccagggctccgcctcc	14	15	0	0	rs3928777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138376972A>G	ENST00000356818.2	+	4	1165	c.616A>G	c.(616-618)Aag>Gag	p.K206E	PPP1R26_ENST00000604351.1_Missense_Mutation_p.K206E|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.K206E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K206E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K206E	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	206			K -> E (in dbSNP:rs3928777). {ECO:0000269|PubMed:15489334}.		negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGGATCCAGCAAGGACCAGGG	0.607													G|||	2059	0.411142	0.2927	0.4899	5008	,	,		17027	0.6319		0.2107	False		,,,				2504	0.4939				p.K206E		Atlas-SNP	.											.	.	.	.	0			c.A616G						PASS	.	G	GLU/LYS	1123,3281		138,847,1217	48	57	54		616	-5	0	9	dbSNP_108	54	1779,6809		195,1389,2710	yes	missense	KIAA0649	NM_014811.3	56	333,2236,3927	GG,GA,AA		20.715,25.4995,22.3368	benign	206/1210	138376972	2902,10090	2202	4294	6496	SO:0001583	missense	9858	exon4			TCCAGCAAGGACC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.616A>G	9.37:g.138376972A>G	ENSP00000349274:p.Lys206Glu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	56	39	0.696429	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	825	0.37774725274725274	124	0.25203252032520324	158	0.43646408839779005	385	0.6730769230769231	158	0.20844327176781002	G	1.359	-0.589194	0.03799	0.254995	0.20715	ENSG00000196422	ENST00000356818	T	0.08370	3.1	5.4	-4.97	0.03029	.	1.900700	0.02781	N	0.120907	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	9	0.02654	T	1	0.0044	4.3603	0.11199	0.2545:0.4099:0.2528:0.0828	rs3928777;rs17846423;rs17859469;rs56846731	206	Q5T8A7	PPR26_HUMAN	E	206	ENSP00000349274:K206E	ENSP00000349274:K206E	K	+	1	0	KIAA0649	137516793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.040000	0.12104	-2.103000	0.00844	-2.245000	0.00285	AAG	A|0.724;G|0.276	0.276	strong		0.607	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		G	138376972	A	G	138376972	3	3	22	1	0	0	0	0	1	0	0	0	8187	131	5	2	618	2	KIAA0649	9	138376972	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	323	138376972	2836459	5428	10536										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138377657	138377657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctagtggccaccaagaccaTggaccctggtccagggggcc	14	14	0	1	rs1808998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138377657T>C	ENST00000356818.2	+	4	1850	c.1301T>C	c.(1300-1302)aTg>aCg	p.M434T	PPP1R26_ENST00000605660.1_Missense_Mutation_p.M434T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.M434T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.M434T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.M434T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	434			M -> T (in dbSNP:rs1808998). {ECO:0000269|PubMed:15489334}.		negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACCAAGACCATGGACCCTGGT	0.592													C|||	2324	0.464058	0.4183	0.5231	5008	,	,		18270	0.6825		0.2147	False		,,,				2504	0.5153				p.M434T		Atlas-SNP	.											.	.	.	.	0			c.T1301C						PASS	.	C	THR/MET	1645,2761	636.1+/-396.5	304,1037,862	33	37	36		1301	-2	0	9	dbSNP_92	36	1822,6778	713.3+/-405.9	201,1420,2679	yes	missense	KIAA0649	NM_014811.3	81	505,2457,3541	CC,CT,TT		21.186,37.3355,26.6569	benign	434/1210	138377657	3467,9539	2203	4300	6503	SO:0001583	missense	9858	exon4			AGACCATGGACCC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1301T>C	9.37:g.138377657T>C	ENSP00000349274:p.Met434Thr	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	31	20	0.645161	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	908	0.4157509157509158	168	0.34146341463414637	163	0.45027624309392267	416	0.7272727272727273	161	0.21240105540897097	C	0.016	-1.520221	0.00967	0.373355	0.21186	ENSG00000196422	ENST00000356818	T	0.08102	3.13	5.06	-1.98	0.07480	.	1.322620	0.05171	N	0.499637	T	0.00012	0.0000	N	0.00729	-1.24	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	0.02654	T	1	0.4383	1.8933	0.03252	0.1239:0.3712:0.1217:0.3833	rs1808998;rs3748193;rs17846421;rs17859466;rs1808998	434	Q5T8A7	PPR26_HUMAN	T	434	ENSP00000349274:M434T	ENSP00000349274:M434T	M	+	2	0	KIAA0649	137517478	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.935000	0.03950	-1.293000	0.02362	-1.859000	0.00561	ATG	T|0.653;C|0.347	0.347	strong		0.592	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		C	138377657	T	C	138377657	3	2	22	1	0	0	0	0	1	0	0	0	8187	1464	51	2	1303	2	KIAA0649	9	138377657	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	685	138377657	2835774	5429	10537										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138377853	138377853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatcctgccggcccctgtAgagggcagtgacgggtccct	14	14	0	2	rs2004074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138377853A>G	ENST00000356818.2	+	4	2046	c.1497A>G	c.(1495-1497)gtA>gtG	p.V499V	PPP1R26_ENST00000605660.1_Silent_p.V499V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.V499V|PPP1R26_ENST00000605286.1_Silent_p.V499V|PPP1R26_ENST00000604351.1_Silent_p.V499V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	499					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CGGCCCCTGTAGAGGGCAGTG	0.612													G|||	2141	0.427516	0.3275	0.4971	5008	,	,		18876	0.6577		0.2107	False		,,,				2504	0.499				p.V499V		Atlas-SNP	.											KIAA0649,colon,carcinoma,0,1	.	.	1	0			c.A1497G						PASS	.	G		1266,3140	686.0+/-404.6	174,918,1111	48	48	48		1497	2.8	0	9	dbSNP_92	48	1799,6801	719.5+/-406.3	193,1413,2694	no	coding-synonymous	KIAA0649	NM_014811.3		367,2331,3805	GG,GA,AA		20.9186,28.7335,23.566		499/1210	138377853	3065,9941	2203	4300	6503	SO:0001819	synonymous_variant	9858	exon4			CCCTGTAGAGGGC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1497A>G	9.37:g.138377853A>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	54	31	0.574074	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	CCDS6988.1																																																																																			A|0.691;G|0.309	0.309	strong		0.612	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		G	138377853	A	G	138377853	2	3	22	1	0	0	0	0	0	0	0	1	8187	407	15	3		3	KIAA0649	9	138377853	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	196	138377853	2835578	5430	10538										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138378308	138378308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggccctgggaggggaggGcaccgccaggggccctggcg	21	12	0	1	rs35142799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138378308G>A	ENST00000356818.2	+	4	2501	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	PPP1R26_ENST00000605660.1_Missense_Mutation_p.G651D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G651D|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G651D|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G651D	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	651					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGAGGGGAGGGCACCGCCAGG	0.652													G|||	36	0.0071885	0.0272	0.0	5008	,	,		17736	0.0		0.0	False		,,,				2504	0.0				p.G651D		Atlas-SNP	.											.	.	.	.	0			c.G1952A						PASS	.	G	ASP/GLY	100,4300	73.1+/-111.1	1,98,2101	29	33	31		1952	0.7	0	9	dbSNP_126	31	0,8600		0,0,4300	no	missense	KIAA0649	NM_014811.3	94	1,98,6401	AA,AG,GG		0.0,2.2727,0.7692	benign	651/1210	138378308	100,12900	2200	4300	6500	SO:0001583	missense	9858	exon4			GGGAGGGCACCGC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1952G>A	9.37:g.138378308G>A	ENSP00000349274:p.Gly651Asp	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	147	107	0.727891	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	3.546	-0.092690	0.07053	0.022727	0.0	ENSG00000196422	ENST00000356818	T	0.20738	2.05	4.34	0.693	0.18056	.	0.864323	0.09973	N	0.732016	T	0.07143	0.0181	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.26189	-1.0110	10	0.52906	T	0.07	-15.8819	6.8421	0.23969	0.1852:0.6278:0.187:0.0	rs35142799	651	Q5T8A7	PPR26_HUMAN	D	651	ENSP00000349274:G651D	ENSP00000349274:G651D	G	+	2	0	KIAA0649	137518129	0.060000	0.20803	0.001000	0.08648	0.006000	0.05464	1.152000	0.31663	0.249000	0.21456	0.561000	0.74099	GGC	G|0.994;A|0.006	0.006	strong		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		A	138378308	G	A	138378308	3	1	22	1	0	0	0	0	1	0	0	0	8187	1203	42	2	1954	2	KIAA0649	9	138378308	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	455	138378308	2835123	5431	10539										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138379059	138379059	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggggggtcccacatctGgccgaagggcttcgaggcac	16	13	1	0	rs3748198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138379059G>T	ENST00000356818.2	+	4	3252	c.2703G>T	c.(2701-2703)ctG>ctT	p.L901L	PPP1R26_ENST00000604351.1_Silent_p.L901L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.L901L|PPP1R26_ENST00000605286.1_Silent_p.L901L|PPP1R26_ENST00000401470.3_Silent_p.L901L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	901					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCCCACATCTGGCCGAAGGGC	0.711													G|||	908	0.18131	0.1029	0.2075	5008	,	,		15467	0.4464		0.0328	False		,,,				2504	0.1483				p.L901L		Atlas-SNP	.											.	.	.	.	0			c.G2703T						PASS	.	G		347,3887		10,327,1780	31	39	36		2703	-2.7	0	9	dbSNP_107	36	254,8026		4,246,3890	no	coding-synonymous	KIAA0649	NM_014811.3		14,573,5670	TT,TG,GG		3.0676,8.1956,4.8026		901/1210	138379059	601,11913	2117	4140	6257	SO:0001819	synonymous_variant	9858	exon4			ACATCTGGCCGAA	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2703G>T	9.37:g.138379059G>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	71	49	0.690141	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	CCDS6988.1																																																																																			G|0.858;T|0.142	0.142	strong		0.711	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		T	138379059	G	T	138379059	2	4	22	1	0	0	0	0	0	0	0	1	8187	1335	47	4		4	KIAA0649	9	138379059	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	751	138379059	2834372	5432	10540										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138379608	138379608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcgccgctgctgtccacCcagctcttccactttggaaa	7	16	2	0	rs139160467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138379608C>T	ENST00000356818.2	+	4	3801	c.3252C>T	c.(3250-3252)acC>acT	p.T1084T	PPP1R26_ENST00000605660.1_Silent_p.T1084T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.T1084T|PPP1R26_ENST00000605286.1_Silent_p.T1084T|PPP1R26_ENST00000604351.1_Silent_p.T1084T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1084					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGCTGTCCACCCAGCTCTTCC	0.726													C|||	57	0.0113818	0.0424	0.0014	5008	,	,		14055	0.0		0.0	False		,,,				2504	0.0				p.T1084T		Atlas-SNP	.											.	.	.	.	0			c.C3252T						PASS	.	C		72,3236		0,72,1582	4	5	5		3252	-7.1	0.1	9	dbSNP_134	5	2,7236		0,2,3617	no	coding-synonymous	KIAA0649	NM_014811.3		0,74,5199	TT,TC,CC		0.0276,2.1765,0.7017		1084/1210	138379608	74,10472	1654	3619	5273	SO:0001819	synonymous_variant	9858	exon4			GTCCACCCAGCTC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3252C>T	9.37:g.138379608C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	22	8	0.363636	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	CCDS6988.1																																																																																			C|0.989;T|0.011	0.011	strong		0.726	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		T	138379608	C	T	138379608	2	4	22	1	0	0	0	0	0	0	0	1	8187	610	22	2		2	KIAA0649	9	138379608	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	549	138379608	2833823	5433	10541										
MRPS2	51116	hgsc.bcm.edu	37	chr9	138395969	138395969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggggctgacatgagccAttccctgtgatgttcactct	10	12	2	3	rs3748199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138395969A>G	ENST00000371785.1	+	5	1090	c.881A>G	c.(880-882)cAt>cGt	p.H294R	C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.H294R			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	294			H -> R (in dbSNP:rs3748199).		translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GACATGAGCCATTCCCTGTGA	0.637													G|||	783	0.15635	0.3608	0.0807	5008	,	,		18075	0.0685		0.0606	False		,,,				2504	0.1227				p.H294R		Atlas-SNP	.											.	MRPS2	17	.	0			c.A881G						PASS	.	G	ARG/HIS	1293,3103		202,889,1107	20	21	21		881	-6.4	0	9	dbSNP_107	21	527,8071		18,491,3790	yes	missense	MRPS2	NM_016034.3	29	220,1380,4897	GG,GA,AA		6.1293,29.4131,14.0065	benign	294/297	138395969	1820,11174	2198	4299	6497	SO:0001583	missense	51116	exon4			TGAGCCATTCCCT	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.881A>G	9.37:g.138395969A>G	ENSP00000360850:p.His294Arg	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_016034	Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	CCDS6990.1	255	0.11675824175824176	154	0.3130081300813008	27	0.07458563535911603	26	0.045454545454545456	48	0.0633245382585752	G	0.005	-2.214476	0.00289	0.294131	0.061293	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.24723	1.84;1.84	3.21	-6.41	0.01938	.	1.900150	0.03877	N	0.276508	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	9	0.06494	T	0.89	0.3993	9.5981	0.39587	0.245:0.3254:0.4296:0.0	rs3748199;rs60286354;rs3748199	294	Q9Y399	RT02_HUMAN	R	294	ENSP00000360850:H294R;ENSP00000241600:H294R	ENSP00000241600:H294R	H	+	2	0	MRPS2	137535790	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.560000	0.00431	-3.340000	0.00183	-1.400000	0.01143	CAT	A|0.868;G|0.132	0.132	strong		0.637	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			G	138395969	A	G	138395969	3	3	22	1	0	0	0	0	1	0	0	0	9831	217	8	2	895	2	MRPS2	9	138395969	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16361	138395969	2817462	5434	10542										
KCNT1	57582	hgsc.bcm.edu	37	chr9	138651648	138651648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacgcccaagatctggccAtcgcagctgctggtggtcat	12	13	3	1	rs61739517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138651648A>G	ENST00000263604.3	+	11	921	c.921A>G	c.(919-921)ccA>ccG	p.P307P	KCNT1_ENST00000491806.2_Silent_p.P293P|KCNT1_ENST00000371757.2_Silent_p.P326P|KCNT1_ENST00000488444.2_Silent_p.P307P|KCNT1_ENST00000490355.2_Silent_p.P307P|KCNT1_ENST00000486577.2_Silent_p.P287P|KCNT1_ENST00000298480.5_Silent_p.P326P|KCNT1_ENST00000487664.1_Silent_p.P281P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	307					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGATCTGGCCATCGCAGCTGC	0.642													A|||	142	0.0283546	0.1051	0.0043	5008	,	,		20814	0.0		0.0	False		,,,				2504	0.0				p.P326P		Atlas-SNP	.											.	KCNT1	139	.	0			c.A978G						PASS	.	A		385,4021	194.0+/-219.0	20,345,1838	137	98	111		978	-9.7	0.7	9	dbSNP_129	111	4,8596	1.2+/-3.3	0,4,4296	no	coding-synonymous	KCNT1	NM_020822.2		20,349,6134	GG,GA,AA		0.0465,8.7381,2.9909		326/1236	138651648	389,12617	2203	4300	6503	SO:0001819	synonymous_variant	57582	exon11			CTGGCCATCGCAG	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.921A>G	9.37:g.138651648A>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	116	39	0.336207	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																				A|0.967;G|0.033	0.033	strong		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		G	138651648	A	G	138651648	2	3	22	1	0	0	0	0	0	0	0	1	8091	204	8	2		2	KCNT1	9	138651648	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	255679	138651648	2561783	5435	10543										
KCNT1	57582	hgsc.bcm.edu	37	chr9	138662273	138662273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaagagcttcacctacgcGgccttccacgcccacaagaa	9	16	1	2	rs17038714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138662273G>A	ENST00000263604.3	+	17	1692	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A	KCNT1_ENST00000371757.2_Silent_p.A583A|KCNT1_ENST00000487664.1_Silent_p.A538A|KCNT1_ENST00000488444.2_Silent_p.A564A|KCNT1_ENST00000490355.2_Silent_p.A564A|KCNT1_ENST00000298480.5_Silent_p.A583A|KCNT1_ENST00000486577.2_Silent_p.A544A|KCNT1_ENST00000491806.2_Silent_p.A550A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	564	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCACCTACGCGGCCTTCCACG	0.647													G|||	1780	0.355431	0.4924	0.1772	5008	,	,		15769	0.4147		0.2217	False		,,,				2504	0.3732				p.A583A		Atlas-SNP	.											.	KCNT1	139	.	0			c.G1749A						PASS	.	G		2074,2330	558.6+/-380.0	487,1100,615	86	66	73		1749	-3.1	1	9	dbSNP_123	73	1784,6816	317.8+/-313.4	193,1398,2709	no	coding-synonymous	KCNT1	NM_020822.2		680,2498,3324	AA,AG,GG		20.7442,47.0936,29.6678		583/1236	138662273	3858,9146	2202	4300	6502	SO:0001819	synonymous_variant	57582	exon17			CTACGCGGCCTTC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1692G>A	9.37:g.138662273G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																				G|0.695;A|0.305	0.305	strong		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138662273	G	A	138662273	2	1	22	1	0	0	0	0	0	0	0	1	8091	1103	39	1		1	KCNT1	9	138662273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10625	138662273	2551158	5436	10544										
CAMSAP1	157922	hgsc.bcm.edu	37	chr9	138742077	138742077	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaataaaaaccataacattCggctaaaagacaaaaacaaa	4	8	0	1	rs35981196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138742077C>G	ENST00000389532.4	-	7	1015	c.951G>C	c.(949-951)ccG>ccC	p.P317P	CAMSAP1_ENST00000312405.6_Silent_p.P39P|CAMSAP1_ENST00000409386.3_Silent_p.P328P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	317	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCATAACATTCGGCTAAAAGA	0.378													C|||	609	0.121605	0.2057	0.0879	5008	,	,		18956	0.0		0.1322	False		,,,				2504	0.1462				p.P317P		Atlas-SNP	.											.	CAMSAP1	142	.	0			c.G951C						PASS	.	C		884,3522	337.3+/-304.8	105,674,1424	44	42	43		951	-10.7	0	9	dbSNP_126	43	1523,7077	283.9+/-296.4	134,1255,2911	no	coding-synonymous	CAMSAP1	NM_015447.3		239,1929,4335	GG,GC,CC		17.7093,20.0635,18.5068		317/1603	138742077	2407,10599	2203	4300	6503	SO:0001819	synonymous_variant	157922	exon7			AACATTCGGCTAA	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.951G>C	9.37:g.138742077C>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	82	30	0.365854	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																			C|0.836;G|0.164	0.164	strong		0.378	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		G	138742077	C	G	138742077	2	3	22	1	0	0	0	0	0	0	0	1	2611	871	31	4		4	CAMSAP1	9	138742077	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79804	138742077	2471354	5437	10545										
NACC2	138151	hgsc.bcm.edu	37	chr9	138905136	138905136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcccgcagctgttggccagCgtgttcctggtggagggacc	16	12	0	0	rs2280486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:138905136C>T	ENST00000371753.1	-	4	1222	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	NACC2_ENST00000467669.1_5'Flank|NACC2_ENST00000277554.2_Silent_p.T388T			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						TGTTGGCCAGCGTGTTCCTGG	0.672													C|||	2325	0.464257	0.5469	0.4741	5008	,	,		11939	0.4494		0.4284	False		,,,				2504	0.3978				p.T388T		Atlas-SNP	.											.	NACC2	16	.	0			c.G1164A						PASS	.	C		2254,2150	576.4+/-384.2	586,1082,534	43	47	46		1164	-9.9	0.6	9	dbSNP_100	46	3615,4977	512.0+/-377.8	765,2085,1446	no	coding-synonymous	NACC2	NM_144653.4		1351,3167,1980	TT,TC,CC		42.074,48.8193,45.16		388/588	138905136	5869,7127	2202	4296	6498	SO:0001819	synonymous_variant	138151	exon5			GGCCAGCGTGTTC	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1164G>A	9.37:g.138905136C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	199	71	0.356784	NM_144653		Silent	SNP	ENST00000371753.1	37	CCDS6993.1																																																																																			C|0.543;T|0.457	0.457	strong		0.672	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		T	138905136	C	T	138905136	2	4	22	1	0	0	0	0	0	0	0	1	10136	755	27	1		1	NACC2	9	138905136	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	163059	138905136	2308295	5438	10546										
LHX3	8022	hgsc.bcm.edu	37	chr9	139096782	139096782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcctgctggggcttacccCgagtcccgcccaaggtgcag	13	15	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139096782C>T	ENST00000371748.5	-	1	173	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	LHX3_ENST00000371746.3_5'Flank	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	26					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGGCTTACCCCGAGTCCCGCC	0.721																																					p.R26Q		Atlas-SNP	.											.	LHX3	23	.	0			c.G77A						PASS	.						15	16	15					9																	139096782		2173	4271	6444	SO:0001583	missense	8022	exon1			TTACCCCGAGTCC	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.77G>A	9.37:g.139096782C>T	ENSP00000360813:p.Arg26Gln	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	36	12	0.333333	NM_178138	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571243	0.00895	.	.	ENSG00000107187	ENST00000371748	D	0.87729	-2.29	2.48	-3.37	0.04898	.	.	.	.	.	T	0.68805	0.3041	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55503	-0.8131	9	0.08599	T	0.76	.	5.7854	0.18331	0.0:0.2132:0.172:0.6149	.	26	Q9UBR4	LHX3_HUMAN	Q	26	ENSP00000360813:R26Q	ENSP00000360813:R26Q	R	-	2	0	LHX3	138236603	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.334000	0.02665	-0.951000	0.03654	-0.350000	0.07774	CGG	.	.	none		0.721	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			T	139096782	C	T	139096782	3	4	22	1	0	0	0	0	1	0	0	0	8772	652	23	1	1238	1	LHX3	9	139096782	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	191646	139096782	2116649	5439	10547										
CARD9	64170	hgsc.bcm.edu	37	chr9	139264827	139264827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcctggtggtcccgcagCgcctgccgccagtcctcctc	11	19	0	0	rs115057256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139264827C>T	ENST00000371732.5	-	6	1035	c.870G>A	c.(868-870)gcG>gcA	p.A290A	CARD9_ENST00000371734.3_Silent_p.A290A|CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Silent_p.A290A	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	290					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGTCCCGCAGCGCCTGCCGCC	0.687													C|||	50	0.00998403	0.0363	0.0029	5008	,	,		16294	0.0		0.0	False		,,,				2504	0.0				p.A290A		Atlas-SNP	.											CARD9,NS,NS,-1,1	CARD9	47	1	0			c.G870A						PASS	.	C	,	145,4233	94.8+/-133.5	2,141,2046	33	36	35		870,870	-8.2	0.2	9	dbSNP_132	35	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	2,142,6343	TT,TC,CC		0.0116,3.312,1.1253	,	290/537,290/493	139264827	146,12828	2189	4298	6487	SO:0001819	synonymous_variant	64170	exon6			CCGCAGCGCCTGC	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.870G>A	9.37:g.139264827C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	91	71	0.78022	NM_052813	Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																			C|0.989;T|0.011	0.011	strong		0.687	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		T	139264827	C	T	139264827	2	4	22	1	0	0	0	0	0	0	0	1	2652	755	27	1		1	CARD9	9	139264827	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168045	139264827	1948604	5440	10548										
SNAPC4	6621	hgsc.bcm.edu	37	chr9	139273402	139273402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtgccaggtttggctgcCgcgggggccccaggcccaga	17	13	0	1	rs3812567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139273402C>T	ENST00000298532.2	-	21	3245	c.2877G>A	c.(2875-2877)gcG>gcA	p.A959A		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTTTGGCTGCCGCGGGGGCCC	0.662													T|||	3910	0.780751	0.9856	0.6455	5008	,	,		11872	0.8452		0.6909	False		,,,				2504	0.6258				p.A959A		Atlas-SNP	.											.	SNAPC4	82	.	0			c.G2877A						PASS	.	T		4127,257		1947,233,12	16	19	18		2877	-2	0	9	dbSNP_107	18	5890,2690		2015,1860,415	no	coding-synonymous	SNAPC4	NM_003086.2		3962,2093,427	TT,TC,CC		31.352,5.8622,22.7322		959/1470	139273402	10017,2947	2192	4290	6482	SO:0001819	synonymous_variant	6621	exon21			GGCTGCCGCGGGG	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2877G>A	9.37:g.139273402C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	258	257	0.996124	NM_003086		Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																			C|0.201;T|0.799	0.799	strong		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		T	139273402	C	T	139273402	2	4	22	1	0	0	0	0	0	0	0	1	14837	639	23	1		1	SNAPC4	9	139273402	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8575	139273402	1940029	5441	10549										
SNAPC4	6621	hgsc.bcm.edu	37	chr9	139292751	139292751	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaggtacaaggggcttacCtgcttcagaatctgactcga	11	10	2	2	rs7031489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139292751C>T	ENST00000298532.2	-	1	498	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGGGCTTACCTGCTTCAGAA	0.557													C|||	36	0.0071885	0.0257	0.0029	5008	,	,		15053	0.0		0.0	False		,,,				2504	0.0				p.D44N		Atlas-SNP	.											.	SNAPC4	82	.	0			c.G130A						PASS	.	C	ASN/ASP	86,4320	73.1+/-111.1	0,86,2117	105	108	107		130	4.2	0.8	9	dbSNP_116	107	12,8588	9.1+/-34.3	0,12,4288	yes	missense-near-splice	SNAPC4	NM_003086.2	23	0,98,6405	TT,TC,CC		0.1395,1.9519,0.7535	benign	44/1470	139292751	98,12908	2203	4300	6503	SO:0001630	splice_region_variant	6621	exon1			GCTTACCTGCTTC	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.130+1G>A	9.37:g.139292751C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	91	30	0.32967	NM_003086		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	c	12.43	1.935886	0.34189	0.019519	0.001395	ENSG00000165684	ENST00000298532	T	0.28895	1.59	4.18	4.18	0.49190	.	0.853272	0.10561	N	0.660279	T	0.15609	0.0376	L	0.46157	1.445	0.26436	N	0.975854	B	0.32245	0.361	B	0.29440	0.102	T	0.05835	-1.0861	9	.	.	.	-10.7631	14.4014	0.67050	0.0:1.0:0.0:0.0	rs7031489;rs7031489	44	Q5SXM2	SNPC4_HUMAN	N	44	ENSP00000298532:D44N	.	D	-	1	0	SNAPC4	138412572	0.988000	0.35896	0.779000	0.31741	0.410000	0.31052	3.351000	0.52232	2.327000	0.79052	0.651000	0.88453	GAT	C|0.991;T|0.009	0.009	strong		0.557	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	Missense_Mutation	T	139292751	C	T	139292751	5	4	22	1	0	0	0	0	0	0	1	0	14837	695	24	2	4367	2	SNAPC4	9	139292751	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19349	139292751	1920680	5442	10550										
SEC16A	9919	hgsc.bcm.edu	37	chr9	139370829	139370829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccccacgtgtgtaggtgcGggcggacggcctagcccagg	17	14	0	0	rs114386206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139370829G>A	ENST00000371706.3	-	1	738	c.705C>T	c.(703-705)ccC>ccT	p.P235P	SEC16A_ENST00000431893.2_Silent_p.P235P|SEC16A_ENST00000290037.6_Silent_p.P235P|SEC16A_ENST00000313050.7_Silent_p.P413P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	235					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)		GTGTAGGTGCGGGCGGACGGC	0.592													g|||	19	0.00379393	0.0136	0.0014	5008	,	,		16416	0.0		0.0	False		,,,				2504	0.0				p.P413P		Atlas-SNP	.											.	SEC16A	249	.	0			c.C1239T						PASS	.	C		42,3906		0,42,1932	21	24	23		1239	-7.4	0	9	dbSNP_132	23	9,8283		0,9,4137	no	coding-synonymous	SEC16A	NM_014866.1		0,51,6069	AA,AG,GG		0.1085,1.0638,0.4167		413/2358	139370829	51,12189	1974	4146	6120	SO:0001819	synonymous_variant	9919	exon3			AGGTGCGGGCGGA	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.705C>T	9.37:g.139370829G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	121	45	0.371901	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																				G|0.996;A|0.004	0.004	strong		0.592	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139370829	G	A	139370829	2	1	22	1	0	0	0	0	0	0	0	1	13986	1103	39	1		1	SEC16A	9	139370829	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78078	139370829	1842602	5443	10551										
NOTCH1	4851	hgsc.bcm.edu	37	chr9	139390649	139390650	+	Frame_Shift_Del	DEL	AG	AG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccactggtcaggggactcAggggacggggtgaggaaggg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139390649_139390650delAG	ENST00000277541.6	-	34	7616_7617	c.7541_7542delCT	c.(7540-7542)cctfs	p.P2514fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2514					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P2515fs*4(145)|p.T2512fs*1(1)|p.E2515fs*3(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGGGACTCAGGGGACGGGGT	0.663			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.2514_2515del		Pindel,Atlas-Indel	.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1	1980	.	147	Complex - frameshift(145)|Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(147)	c.7542_7543del						PASS	.																																			SO:0001589	frameshift_variant	4851	exon34			.	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7541_7542delCT	9.37:g.139390649_139390650delAG	ENSP00000277541:p.Pro2514fs	Somatic	113	.	.		WXS	Illumina HiSeq	Phase_I	118	38	0.322	NM_017617	Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	CCDS43905.1																																																																																			.	.	none		0.663	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		-	139390650	AG	-	139390649	7	5	22	1	0	1	0	1	0	0	0	0	10547	175	7	0	129	0	NOTCH1	9	139390649	Frame_Shift_Del	DEL	AG	TCGA-G8-6324-01A-11D-2210-10	19820	139390649	1822782	5444	10552										
NOTCH1	4851	hgsc.bcm.edu	37	chr9	139390958	139390958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggctgtggtggtggtggTggcggctgcaggctttgctg	21	7	0	0	rs11574911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139390958T>C	ENST00000277541.6	-	34	7308	c.7233A>G	c.(7231-7233)ccA>ccG	p.P2411P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2411	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P2412P(1)|p.P2412del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGTGGTGGTGGCGGCTGCA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T|||	160	0.0319489	0.1112	0.0144	5008	,	,		14401	0.0		0.003	False		,,,				2504	0.0				p.P2411P		Atlas-SNP	.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	NOTCH1,NS,lymphoid_neoplasm,0,1	NOTCH1	1980	1	2	Substitution - coding silent(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	c.A7233G						PASS	.	T		313,3979		8,297,1841	22	30	27		7233	-1.5	0	9	dbSNP_120	27	17,8511		0,17,4247	no	coding-synonymous	NOTCH1	NM_017617.3		8,314,6088	CC,CT,TT		0.1993,7.2926,2.5741		2411/2556	139390958	330,12490	2146	4264	6410	SO:0001819	synonymous_variant	4851	exon34			TGGTGGTGGCGGC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7233A>G	9.37:g.139390958T>C		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	31	11	0.354839	NM_017617	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			T|0.968;C|0.032	0.032	strong		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		C	139390958	T	C	139390958	2	2	22	1	0	0	0	0	0	0	0	1	10547	1683	59	2		2	NOTCH1	9	139390958	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	309	139390958	1822473	5445	10553										
NOTCH1	4851	hgsc.bcm.edu	37	chr9	139391636	139391636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcaggcagcccttgccGtcctgggacttcttcctccg	10	17	1	0	rs2229974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139391636G>A	ENST00000277541.6	-	34	6630	c.6555C>T	c.(6553-6555)gaC>gaT	p.D2185D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2185					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCCCTTGCCGTCCTGGGACT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G|||	3481	0.695088	0.6278	0.6542	5008	,	,		16337	0.9494		0.5775	False		,,,				2504	0.6738				p.D2185D		Atlas-SNP	.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1	1980	.	2	Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	c.C6555T						PASS	.	G		2777,1589		891,995,297	47	54	52		6555	-0.8	1	9	dbSNP_98	52	4726,3816		1319,2088,864	no	coding-synonymous	NOTCH1	NM_017617.3		2210,3083,1161	AA,AG,GG		44.6734,36.3949,41.8733		2185/2556	139391636	7503,5405	2183	4271	6454	SO:0001819	synonymous_variant	4851	exon34			CTTGCCGTCCTGG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6555C>T	9.37:g.139391636G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	133	77	0.578947	NM_017617	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			G|0.341;A|0.659	0.659	strong		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139391636	G	A	139391636	2	1	22	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139391636	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	678	139391636	1821795	5446	10554										
EGFL7	51162	hgsc.bcm.edu	37	chr9	139564668	139564668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggctgtccccagcgctgcGtcaacaccgccggcagttac	12	17	1	0	rs2297538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139564668G>A	ENST00000371699.1	+	7	1368	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	EGFL7_ENST00000371698.3_Missense_Mutation_p.V153I|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Missense_Mutation_p.V153I|EGFL7_ENST00000308874.7_Missense_Mutation_p.V153I|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	153	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		V -> I (in dbSNP:rs2297538). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CCAGCGCTGCGTCAACACCGC	0.672													g|||	843	0.168331	0.2073	0.1945	5008	,	,		17073	0.1349		0.2087	False		,,,				2504	0.09				p.V153I		Atlas-SNP	.											.	EGFL7	11	.	0			c.G457A						PASS	.	G	ILE/VAL,ILE/VAL	967,3427		108,751,1338	35	38	37		457,457	0.5	0.9	9	dbSNP_100	37	1757,6825		169,1419,2703	yes	missense,missense	EGFL7	NM_016215.4,NM_201446.2	29,29	277,2170,4041	AA,AG,GG		20.4731,22.0073,20.9926	benign,benign	153/274,153/274	139564668	2724,10252	2197	4291	6488	SO:0001583	missense	51162	exon8			CGCTGCGTCAACA	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.457G>A	9.37:g.139564668G>A	ENSP00000360764:p.Val153Ile	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	100	30	0.3	NM_016215	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	CCDS7002.1	407	0.18635531135531136	118	0.23983739837398374	66	0.18232044198895028	68	0.11888111888111888	155	0.20448548812664907	G	6.763	0.509711	0.12883	0.220073	0.204731	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.05	0.508	0.16972	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.447530	0.23342	N	0.049234	T	0.00012	0.0000	N	0.05230	-0.09	0.26060	P	0.9813663	B	0.15473	0.013	B	0.12837	0.008	T	0.40384	-0.9566	9	0.27082	T	0.32	-17.081	9.6192	0.39710	0.4213:0.0:0.5787:0.0	rs2297538;rs17850906;rs61338841;rs2297538	153	Q9UHF1	EGFL7_HUMAN	I	153	ENSP00000360764:V153I;ENSP00000307843:V153I;ENSP00000385639:V153I;ENSP00000360763:V153I	ENSP00000307843:V153I	V	+	1	0	EGFL7	138684489	0.020000	0.18652	0.857000	0.33713	0.266000	0.26442	-0.001000	0.12947	0.173000	0.19788	-0.254000	0.11334	GTC	G|0.800;A|0.200	0.200	strong		0.672	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		A	139564668	G	A	139564668	3	1	22	1	0	0	0	0	1	0	0	0	4964	1145	40	1	475	1	EGFL7	9	139564668	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	173032	139564668	1648763	5447	10555										
AGPAT2	10555	hgsc.bcm.edu	37	chr9	139571560	139571560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccgcttggcgatctgcacGcagcgctccggaaggacctc	12	16	1	0	rs73668354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139571560G>A	ENST00000371696.2	-	3	410	c.345C>T	c.(343-345)tgC>tgT	p.C115C	AGPAT2_ENST00000538402.1_Silent_p.C115C|AGPAT2_ENST00000371694.3_Silent_p.C115C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	115					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGATCTGCACGCAGCGCTCCG	0.637													G|||	72	0.014377	0.0461	0.013	5008	,	,		15024	0.0		0.002	False		,,,				2504	0.0				p.C115C		Atlas-SNP	.											AGPAT2,NS,carcinoma,0,1	AGPAT2	17	1	0			c.C345T						PASS	.	A	,	183,4223	115.0+/-153.0	2,179,2022	50	57	54		345,345	-3.2	0.7	9	dbSNP_130	54	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	AGPAT2	NM_001012727.1,NM_006412.3	,	2,185,6316	AA,AG,GG		0.0698,4.1534,1.4532	,	115/247,115/279	139571560	189,12817	2203	4300	6503	SO:0001819	synonymous_variant	10555	exon3			CTGCACGCAGCGC	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.345C>T	9.37:g.139571560G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	116	85	0.732759	NM_001012727	O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	CCDS7003.1																																																																																			G|0.982;A|0.018	0.018	strong		0.637	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		A	139571560	G	A	139571560	2	1	22	1	0	0	0	0	0	0	0	1	387	1079	38	1		1	AGPAT2	9	139571560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6892	139571560	1641871	5448	10556										
LCN10	414332	hgsc.bcm.edu	37	chr9	139634495	139634495	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaagctcgaaacattctGcctatctgaggttgagatca	10	9	3	2	rs9886752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139634495G>A	ENST00000474369.1	-	4	441	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	LCN10_ENST00000497771.1_Nonsense_Mutation_p.Q161*|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Nonsense_Mutation_p.Q125*			Q6JVE6	LCN10_HUMAN	lipocalin 10	148					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GAAACATTCTGCCTATCTGAG	0.542													g|||	998	0.199281	0.1808	0.2421	5008	,	,		19016	0.2698		0.1491	False		,,,				2504	0.1728				p.Q161X		Atlas-SNP	.											.	LCN10	21	.	0			c.C481T						PASS	.		stop/GLN	795,3607		82,631,1488	71	57	62		481	1.7	0.1	9	dbSNP_119	62	1317,7273		105,1107,3083	yes	stop-gained	LCN10	NM_001001712.2		187,1738,4571	AA,AG,GG		15.3318,18.06,16.2562		161/201	139634495	2112,10880	2201	4295	6496	SO:0001587	stop_gained	414332	exon5			CATTCTGCCTATC	AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.442C>T	9.37:g.139634495G>A	ENSP00000420564:p.Gln148*	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	117	79	0.675214	NM_001001712	A2RUU3|B0QZ79	Nonsense_Mutation	SNP	ENST00000474369.1	37	CCDS35182.2	438	0.20054945054945056	99	0.20121951219512196	77	0.212707182320442	151	0.263986013986014	111	0.14643799472295516	g	11.56	1.674100	0.29693	0.1806	0.153318	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	.	.	.	2.66	1.7	0.24286	.	0.672061	0.12237	N	0.486894	.	.	.	.	.	.	0.09310	P	0.999999999541476	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	7.2424	0.26104	0.0:0.2777:0.7222:0.0	rs9886752;rs61671998;rs9886752	.	.	.	X	125;161;148	.	ENSP00000420564:Q148X	Q	-	1	0	LCN10	138754316	0.004000	0.15560	0.055000	0.19348	0.030000	0.12068	1.072000	0.30678	0.657000	0.30906	0.539000	0.68188	CAG	G|0.818;A|0.182	0.182	strong		0.542	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712		A	139634495	G	A	139634495	4	1	22	1	0	0	0	0	0	1	0	0	8681	1328	46	2	129	2	LCN10	9	139634495	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62935	139634495	1578936	5449	10557										
LCN8	138307	hgsc.bcm.edu	37	chr9	139649612	139649612	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggagctcggcacaccgcCctgcaggataggccagcatg	13	14	1	0	rs2282258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139649612C>A	ENST00000371688.3	-	6	717	c.422G>T	c.(421-423)gGg>gTg	p.G141V	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	164					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GGCACACCGCCCTGCAGGATA	0.716													C|||	776	0.154952	0.1467	0.2363	5008	,	,		14332	0.1518		0.1292	False		,,,				2504	0.138				p.G141V		Atlas-SNP	.											LCN8,colon,carcinoma,0,1	LCN8	14	1	0			c.G422T						PASS	.	C	VAL/GLY	616,3770		43,530,1620	23	25	24		422	2.7	1	9	dbSNP_100	24	1184,7410		84,1016,3197	yes	missense-near-splice	LCN8	NM_178469.3	109	127,1546,4817	AA,AC,CC		13.7771,14.0447,13.8675	probably-damaging	141/153	139649612	1800,11180	2193	4297	6490	SO:0001630	splice_region_variant	138307	exon6			CACCGCCCTGCAG	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"Lipocalins"	27038	protein-coding gene	gene with protein product		612902	"chromosome 9 open reading frame 137", "lipocalin 5"	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.422-1G>T	9.37:g.139649612C>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	156	104	0.666667	NM_178469	A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	CCDS35183.1	350	0.16025641025641027	98	0.1991869918699187	73	0.20165745856353592	83	0.1451048951048951	96	0.1266490765171504	C	10.47	1.358374	0.24598	0.140447	0.137771	ENSG00000204001	ENST00000371688	T	0.52295	0.67	2.74	2.74	0.32292	.	.	.	.	.	T	0.00073	0.0002	L	0.27053	0.805	0.19575	P	0.999969191	D	0.89917	1.0	D	0.91635	0.999	T	0.03829	-1.1000	8	0.28530	T	0.3	.	9.1522	0.36971	0.0:1.0:0.0:0.0	rs2282258	141	Q6JVE9-2	.	V	141	ENSP00000360753:G141V	ENSP00000360753:G141V	G	-	2	0	LCN8	138769433	0.896000	0.30565	0.962000	0.40283	0.010000	0.07245	1.807000	0.38902	1.850000	0.53721	0.561000	0.74099	GGG	C|0.851;A|0.149	0.149	strong		0.716	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469	Missense_Mutation	A	139649612	C	A	139649612	5	1	22	1	0	0	0	0	0	0	1	0	8686	637	22	4	44	4	LCN8	9	139649612	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15117	139649612	1563819	5450	10558										
LCN8	138307	hgsc.bcm.edu	37	chr9	139649701	139649701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccctgggctcaccaggcCgggccgccaggtagagacca	15	16	1	1	rs144857499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139649701C>T	ENST00000371688.3	-	5	711	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	162					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTCACCAGGCCGGGCCGCCAG	0.682													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		14888	0.0		0.0	False		,,,				2504	0.0				p.R139Q		Atlas-SNP	.											.	LCN8	14	.	0			c.G416A						PASS	.	C	GLN/ARG	25,4379	30.8+/-60.4	0,25,2177	39	48	45		416	1.9	0.2	9	dbSNP_134	45	1,8599		0,1,4299	yes	missense	LCN8	NM_178469.3	43	0,26,6476	TT,TC,CC		0.0116,0.5677,0.1999	probably-damaging	139/153	139649701	26,12978	2202	4300	6502	SO:0001583	missense	138307	exon5			CCAGGCCGGGCCG	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"Lipocalins"	27038	protein-coding gene	gene with protein product		612902	"chromosome 9 open reading frame 137", "lipocalin 5"	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.416G>A	9.37:g.139649701C>T	ENSP00000360753:p.Arg139Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	55	0.6875	NM_178469	A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	CCDS35183.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	9.456	1.091903	0.20471	0.005677	1.16E-4	ENSG00000204001	ENST00000371688	T	0.34667	1.35	2.76	1.85	0.25348	.	.	.	.	.	T	0.14700	0.0355	N	0.24115	0.695	0.09310	N	1	B	0.23490	0.086	B	0.15870	0.014	T	0.15723	-1.0427	9	0.28530	T	0.3	.	5.487	0.16755	0.0:0.8418:0.0:0.1582	.	139	Q6JVE9-2	.	Q	139	ENSP00000360753:R139Q	ENSP00000360753:R139Q	R	-	2	0	LCN8	138769522	0.058000	0.20735	0.229000	0.23960	0.549000	0.35272	0.257000	0.18369	0.731000	0.32448	0.491000	0.48974	CGG	C|0.997;T|0.003	0.003	strong		0.682	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		T	139649701	C	T	139649701	3	4	22	1	0	0	0	0	1	0	0	0	8686	652	23	1	54	1	LCN8	9	139649701	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89	139649701	1563730	5451	10559										
LCN15	389812	hgsc.bcm.edu	37	chr9	139657874	139657874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgtaaaggacggcgaagGagctgtagtctgtgtccacg	15	7	1	1	rs11145871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139657874G>C	ENST00000316144.5	-	4	377	c.353C>G	c.(352-354)tCc>tGc	p.S118C	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	118					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GACGGCGAAGGAGCTGTAGTC	0.642													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		8323	0.0		0.0	False		,,,				2504	0.0				p.S118C		Atlas-SNP	.											.	LCN15	11	.	0			c.C353G						PASS	.	G	CYS/SER	55,4351	54.2+/-90.2	1,53,2149	83	75	77		353	3.8	0.3	9	dbSNP_120	77	0,8600		0,0,4300	yes	missense	LCN15	NM_203347.1	112	1,53,6449	CC,CG,GG		0.0,1.2483,0.4229	probably-damaging	118/185	139657874	55,12951	2203	4300	6503	SO:0001583	missense	389812	exon4			GCGAAGGAGCTGT		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.353C>G	9.37:g.139657874G>C	ENSP00000313833:p.Ser118Cys	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	37	21	0.567568	NM_203347		Missense_Mutation	SNP	ENST00000316144.5	37	CCDS7006.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	14.93	2.681579	0.47991	0.012483	0.0	ENSG00000177984	ENST00000316144	T	0.08720	3.06	3.76	3.76	0.43208	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.023620	0.07803	N	0.956885	T	0.17577	0.0422	M	0.71581	2.175	0.09310	N	1	D	0.69078	0.997	P	0.58077	0.832	T	0.08700	-1.0709	10	0.62326	D	0.03	.	11.2408	0.48968	0.0:0.0:1.0:0.0	rs11145871	118	Q6UWW0	LCN15_HUMAN	C	118	ENSP00000313833:S118C	ENSP00000313833:S118C	S	-	2	0	LCN15	138777695	0.919000	0.31177	0.273000	0.24645	0.776000	0.43924	2.771000	0.47670	2.104000	0.64026	0.561000	0.74099	TCC	G|0.994;C|0.006	0.006	strong		0.642	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		C	139657874	G	C	139657874	3	2	22	1	0	0	0	0	1	0	0	0	8683	1174	41	4	213	4	LCN15	9	139657874	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8173	139657874	1555557	5452	10560										
LCN15	389812	hgsc.bcm.edu	37	chr9	139657900	139657900	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtctgtgtccacgatgcgCacgtccaggtagcccaaggc	12	13	1	0	rs11145872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139657900C>G	ENST00000316144.5	-	4	351	c.327G>C	c.(325-327)gtG>gtC	p.V109V	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	109					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CCACGATGCGCACGTCCAGGT	0.642													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		8406	0.0		0.0	False		,,,				2504	0.0				p.V109V		Atlas-SNP	.											.	LCN15	11	.	0			c.G327C						PASS	.	C		56,4350	54.9+/-90.9	1,54,2148	76	67	70		327	3.9	1	9	dbSNP_120	70	0,8600		0,0,4300	no	coding-synonymous	LCN15	NM_203347.1		1,54,6448	GG,GC,CC		0.0,1.271,0.4306		109/185	139657900	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	389812	exon4			GATGCGCACGTCC		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.327G>C	9.37:g.139657900C>G		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	32	20	0.625	NM_203347		Silent	SNP	ENST00000316144.5	37	CCDS7006.1																																																																																			C|0.994;G|0.006	0.006	strong		0.642	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		G	139657900	C	G	139657900	2	3	22	1	0	0	0	0	0	0	0	1	8683	697	25	4		4	LCN15	9	139657900	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26	139657900	1555531	5453	10561										
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139693596	139693596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaggggtgaaagagaataTggaccagaacaaggccacgc	13	9	0	3	rs945386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139693596T>C	ENST00000338005.6	+	2	148	c.113T>C	c.(112-114)aTg>aCg	p.M38T	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.M94T|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		38			M -> T (in dbSNP:rs945386).							biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AAAGAGAATATGGACCAGAAC	0.637													C|||	1369	0.273363	0.3374	0.2968	5008	,	,		18525	0.2421		0.2147	False		,,,				2504	0.2628				p.M38T		Atlas-SNP	.											.	KIAA1984	39	.	0			c.T113C						PASS	.	C	THR/MET	1221,2859		191,839,1010	53	62	59		113	1	0	9	dbSNP_86	59	1821,6553		208,1405,2574	yes	missense	KIAA1984	NM_001039374.4	81	399,2244,3584	CC,CT,TT		21.7459,29.9265,24.4259	benign	38/535	139693596	3042,9412	2040	4187	6227	SO:0001583	missense	84960	exon2			AGAATATGGACCA																												ENST00000338005.6:c.113T>C	9.37:g.139693596T>C	ENSP00000338013:p.Met38Thr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_001039374	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	539	0.2467948717948718	160	0.3252032520325203	98	0.27071823204419887	124	0.21678321678321677	157	0.20712401055408972	C	1.102	-0.660878	0.03454	0.299265	0.217459	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.10960	2.82	3.91	1.02	0.19986	.	0.979372	0.08252	N	0.974461	T	0.00012	0.0000	N	0.02142	-0.665	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.49312	-0.8953	9	0.20519	T	0.43	-3.8689	7.3765	0.26831	0.0:0.6152:0.0:0.3848	rs945386;rs945386	38	Q5T5S1	K1984_HUMAN	T	38	ENSP00000338013:M38T	ENSP00000338013:M38T	M	+	2	0	KIAA1984	138813417	0.207000	0.23482	0.025000	0.17156	0.000000	0.00434	0.284000	0.18864	-0.124000	0.11724	-0.994000	0.02522	ATG	T|0.759;C|0.241	0.241	strong		0.637	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			C	139693596	T	C	139693596	3	2	22	1	0	0	0	0	1	0	0	0	8266	1464	51	2	119	2	KIAA1984	9	139693596	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35696	139693596	1519835	5454	10562										
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694521	139694521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaacctactgatccaccTggtgcggcggcgcgggcaga	14	14	0	2	rs4546744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139694521T>G	ENST00000338005.6	+	4	373	c.338T>G	c.(337-339)cTg>cGg	p.L113R	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.L143R|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		113			L -> R (in dbSNP:rs4546744).							biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTGATCCACCTGGTGCGGCGG	0.667													T|||	1327	0.264976	0.3003	0.2954	5008	,	,		10067	0.2421		0.2177	False		,,,				2504	0.2679				p.L113R		Atlas-SNP	.											KIAA1984,NS,carcinoma,0,1	KIAA1984	39	1	0			c.T338G						scavenged	.	T	ARG/LEU	1040,3066		153,734,1166	14	17	16		338	4.8	1	9	dbSNP_111	16	1716,6654		209,1298,2678	yes	missense	KIAA1984	NM_001039374.4	102	362,2032,3844	GG,GT,TT		20.5018,25.3288,22.0904	probably-damaging	113/535	139694521	2756,9720	2053	4185	6238	SO:0001583	missense	84960	exon4			TCCACCTGGTGCG																												ENST00000338005.6:c.338T>G	9.37:g.139694521T>G	ENSP00000338013:p.Leu113Arg	Somatic	28	1	0.0357143		WXS	Illumina HiSeq	Phase_I	26	26	1	NM_001039374	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	513	0.2348901098901099	132	0.2682926829268293	98	0.27071823204419887	124	0.21678321678321677	159	0.20976253298153033	T	20.4	3.987669	0.74589	0.253288	0.205018	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11495	2.77	4.85	4.85	0.62838	.	0.569511	0.13099	U	0.413906	T	0.00012	0.0000	M	0.61703	1.905	0.24583	P	0.99386576	D	0.57257	0.979	P	0.59487	0.858	T	0.37549	-0.9701	9	0.15952	T	0.53	-15.2278	10.827	0.46638	0.0:0.0:0.0:1.0	rs4546744;rs60974315;rs4546744	113	Q5T5S1	K1984_HUMAN	R	113	ENSP00000338013:L113R	ENSP00000338013:L113R	L	+	2	0	KIAA1984	138814342	0.931000	0.31567	1.000000	0.80357	0.960000	0.62799	0.669000	0.25142	1.808000	0.52836	0.379000	0.24179	CTG	T|0.772;G|0.228	0.228	strong		0.667	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			G	139694521	T	G	139694521	3	3	22	1	0	0	0	0	1	0	0	0	8266	1580	55	5	352	5	KIAA1984	9	139694521	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	925	139694521	1518910	5455	10563										
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694569	139694569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcatgcagctggagctggAcagcctgcggagccagcccg	16	13	0	0	rs7859194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139694569A>C	ENST00000338005.6	+	4	421	c.386A>C	c.(385-387)gAc>gCc	p.D129A	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.D159A|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		129			D -> A (in dbSNP:rs7859194).							biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTGGAGCTGGACAGCCTGCGG	0.682													C|||	1376	0.27476	0.3381	0.2968	5008	,	,		9043	0.2421		0.2157	False		,,,				2504	0.2679				p.D129A		Atlas-SNP	.											.	KIAA1984	39	.	0			c.A386C						PASS	.	C	ALA/ASP	963,2909		140,683,1113	10	12	12		386	-3.1	0	9	dbSNP_116	12	1531,6531		185,1161,2685	no	missense	KIAA1984	NM_001039374.4	126	325,1844,3798	CC,CA,AA		18.9903,24.8709,20.8983	benign	129/535	139694569	2494,9440	1936	4031	5967	SO:0001583	missense	84960	exon4			AGCTGGACAGCCT																												ENST00000338005.6:c.386A>C	9.37:g.139694569A>C	ENSP00000338013:p.Asp129Ala	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	18	18	1	NM_001039374	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	535	0.24496336996336995	158	0.32113821138211385	97	0.26795580110497236	122	0.21328671328671328	158	0.20844327176781002	C	5.124	0.208555	0.09757	0.248709	0.189903	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.95	-3.07	0.05363	.	0.822281	0.09595	N	0.780992	T	0.00012	0.0000	N	0.00246	-1.78	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45145	-0.9281	9	0.09843	T	0.71	-0.1055	5.2268	0.15399	0.6236:0.1793:0.1142:0.0829	rs7859194;rs60792782;rs7859194	129	Q5T5S1	K1984_HUMAN	A	129	ENSP00000338013:D129A	ENSP00000338013:D129A	D	+	2	0	KIAA1984	138814390	0.000000	0.05858	0.004000	0.12327	0.086000	0.17979	-0.016000	0.12613	-0.448000	0.07128	-0.358000	0.07595	GAC	A|0.754;C|0.246	0.246	strong		0.682	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			C	139694569	A	C	139694569	3	2	22	1	0	0	0	0	1	0	0	0	8266	275	10	5	400	5	KIAA1984	9	139694569	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48	139694569	1518862	5456	10564										
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694613	139694613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaaggaggagctgcggCtgctgcaggtggagaggcgg	20	9	0	1	rs35342663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139694613C>A	ENST00000338005.6	+	4	465	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.L174M|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		144										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGAGCTGCGGCTGCTGCAGGT	0.741													C|||	462	0.0922524	0.152	0.0144	5008	,	,		7965	0.1389		0.0219	False		,,,				2504	0.091				p.L144M		Atlas-SNP	.											.	KIAA1984	39	.	0			c.C430A						PASS	.	C	MET/LEU	345,2927		9,327,1300	4	4	4		430	-3.5	0	9	dbSNP_126	4	162,7194		2,158,3518	no	missense	KIAA1984	NM_001039374.4	15	11,485,4818	AA,AC,CC		2.2023,10.544,4.7704	benign	144/535	139694613	507,10121	1636	3678	5314	SO:0001583	missense	84960	exon4			CTGCGGCTGCTGC																												ENST00000338005.6:c.430C>A	9.37:g.139694613C>A	ENSP00000338013:p.Leu144Met	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	11	9	0.818182	NM_001039374	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	155	0.07097069597069597	63	0.12804878048780488	6	0.016574585635359115	71	0.12412587412587413	15	0.01978891820580475	C	8.887	0.953003	0.18431	0.10544	0.022023	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.69	-3.55	0.04639	.	1.415250	0.05927	U	0.634446	T	0.00073	0.0002	N	0.21448	0.665	0.80722	P	0.0	B	0.24368	0.102	B	0.23852	0.049	T	0.40098	-0.9581	9	0.45353	T	0.12	-2.6838	3.6184	0.08086	0.384:0.3008:0.0:0.3152	rs35342663;rs59016673;rs62581420	144	Q5T5S1	K1984_HUMAN	M	144	ENSP00000338013:L144M	ENSP00000338013:L144M	L	+	1	2	KIAA1984	138814434	0.000000	0.05858	0.004000	0.12327	0.449000	0.32228	-3.365000	0.00496	-1.346000	0.02211	-0.384000	0.06662	CTG	C|0.929;A|0.071	0.071	strong		0.741	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139694613	C	A	139694613	3	1	22	1	0	0	0	0	1	0	0	0	8266	796	28	4	444	4	KIAA1984	9	139694613	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44	139694613	1518818	5457	10565										
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139698977	139698977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatgaggcaaagggaggcGtccttcatcgaggagcgccg	15	10	1	1	rs11145892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139698977G>A	ENST00000338005.6	+	7	725	c.690G>A	c.(688-690)gcG>gcA	p.A230A	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		230										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AAAGGGAGGCGTCCTTCATCG	0.612													G|||	64	0.0127796	0.0424	0.0058	5008	,	,		18627	0.0		0.002	False		,,,				2504	0.002				p.A230A		Atlas-SNP	.											.	KIAA1984	39	.	0			c.G690A						PASS	.	G		120,3832		1,118,1857	39	44	42		690	-5.7	0.4	9	dbSNP_120	42	37,8243		0,37,4103	no	coding-synonymous	KIAA1984	NM_001039374.4		1,155,5960	AA,AG,GG		0.4469,3.0364,1.2835		230/535	139698977	157,12075	1976	4140	6116	SO:0001819	synonymous_variant	84960	exon7			GGAGGCGTCCTTC																												ENST00000338005.6:c.690G>A	9.37:g.139698977G>A		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	40	27	0.675	NM_001039374	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	CCDS43906.1																																																																																			G|0.993;A|0.007	0.007	strong		0.612	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139698977	G	A	139698977	2	1	22	1	0	0	0	0	0	0	0	1	8266	1132	40	1		1	KIAA1984	9	139698977	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4364	139698977	1514454	5458	10566										
C9orf172	389813	hgsc.bcm.edu	37	chr9	139740900	139740900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaccgagaccatgttcaaCgcctgcctctacttcaagtc	7	16	3	1	rs147735504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139740900C>T	ENST00000436881.1	+	1	2034	c.2034C>T	c.(2032-2034)aaC>aaT	p.N678N	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	678										endometrium(2)|large_intestine(1)|lung(6)	9						CCATGTTCAACGCCTGCCTCT	0.682													c|||	31	0.0061901	0.0227	0.0014	5008	,	,		10471	0.0		0.0	False		,,,				2504	0.0				p.N678N		Atlas-SNP	.											.	C9orf172	23	.	0			c.C2034T						PASS	.	C		90,4048		0,90,1979	23	28	27		2034	3.2	1	9	dbSNP_134	27	1,8323		0,1,4161	no	coding-synonymous	C9orf172	NM_001080482.2		0,91,6140	TT,TC,CC		0.012,2.175,0.7302		678/977	139740900	91,12371	2069	4162	6231	SO:0001819	synonymous_variant	389813	exon1			GTTCAACGCCTGC		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2034C>T	9.37:g.139740900C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_001080482		Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																			C|0.994;T|0.006	0.006	strong		0.682	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		T	139740900	C	T	139740900	2	4	22	1	0	0	0	0	0	0	0	1	2471	535	19	1		1	C9orf172	9	139740900	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41923	139740900	1472531	5459	10567										
PHPT1	29085	hgsc.bcm.edu	37	chr9	139745012	139745012	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccaggatccaccatcaaGgtttgcttgcctgtggaggt	12	12	1	0	rs149543778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139745012G>T	ENST00000247665.10	+	3	622				MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Splice_Site_p.G114C|PHPT1_ENST00000371661.1_Splice_Site_p.G114C|PHPT1_ENST00000492540.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCACCATCAAGGTTTGCTTGC	0.637													G|||	26	0.00519169	0.0159	0.0072	5008	,	,		18692	0.0		0.0	False		,,,				2504	0.0				p.G114C		Atlas-SNP	.											.	PHPT1	14	.	0			c.G340T						PASS	.	G	CYS/GLY,	37,3091		0,37,1527	37	38	38		340,	1.5	0	9	dbSNP_134	38	0,7150		0,0,3575	yes	missense-near-splice,intron	PHPT1	NM_001135861.1,NM_014172.4	159,	0,37,5102	TT,TG,GG		0.0,1.1829,0.36	,	114/125,	139745012	37,10241	1564	3575	5139	SO:0001627	intron_variant	29085	exon3			CATCAAGGTTTGC	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.286-195G>T	9.37:g.139745012G>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	61	36	0.590164	NM_001135861	B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	CCDS7009.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	.	11.23	1.576676	0.28092	0.011829	0.0	ENSG00000054148	ENST00000371661;ENST00000545326	.	.	.	1.54	1.54	0.23209	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41875	-0.9484	7	0.54805	T	0.06	.	9.0668	0.36469	0.0:0.0:1.0:0.0	.	114	Q9NRX4-2	.	C	114	.	ENSP00000360724:G114C	G	+	1	0	PHPT1	138864833	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.167000	0.16602	1.174000	0.42811	0.462000	0.41574	GGC	G|0.996;T|0.004	0.004	strong		0.637	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		T	139745012	G	T	139745012	1	4	22	0	1	0	0	0	0	0	0	0	11860	1014	35	4		4	PHPT1	9	139745012	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4112	139745012	1468419	5460	10568										
TRAF2	7186	hgsc.bcm.edu	37	chr9	139814931	139814931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcagccggcagcaccgGctggaccaagacaagattga	13	13	0	3	rs17244166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139814931G>T	ENST00000247668.2	+	8	976	c.924G>T	c.(922-924)cgG>cgT	p.R308R	TRAF2_ENST00000359662.3_Silent_p.R360R|TRAF2_ENST00000536468.1_Silent_p.R308R	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	308				Missing (in Ref. 2; BAB70792). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCAGCACCGGCTGGACCAAG	0.597													G|||	30	0.00599042	0.0219	0.0014	5008	,	,		15208	0.0		0.0	False		,,,				2504	0.0				p.R308R		Atlas-SNP	.											.	TRAF2	46	.	0			c.G924T						PASS	.	G		114,4290	85.8+/-124.5	1,112,2089	30	33	32		924	-1.9	1	9	dbSNP_123	32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRAF2	NM_021138.3		1,113,6388	TT,TG,GG		0.0116,2.5886,0.8843		308/502	139814931	115,12889	2202	4300	6502	SO:0001819	synonymous_variant	7186	exon8			GCACCGGCTGGAC	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.924G>T	9.37:g.139814931G>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	77	29	0.376623	NM_021138	A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	CCDS7013.1																																																																																			G|0.989;T|0.011	0.011	strong		0.597	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		T	139814931	G	T	139814931	2	4	22	1	0	0	0	0	0	0	0	1	16435	1190	42	4		4	TRAF2	9	139814931	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69919	139814931	1398500	5461	10569										
LCNL1	401562	hgsc.bcm.edu	37	chr9	139879427	139879428	+	Frame_Shift_Ins	INS	-	-	GG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcccctccctgcccctctINSctccctctcttcgcccctcc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139879427_139879428insGG	ENST00000408973.2	+	3	1053_1054	c.459_460insGG	c.(460-462)ctcfs	p.L154fs	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	154																	cctgcccctctctccctctctt	0.678																																					p.S153fs		Atlas-Indel	.											.	LCNL1	4	.	0			c.459_460insGG						PASS	.			103,3313		9,85,1614						-1.1	0			10	3,7317		0,3,3657	no	frameshift	LCNL1	NM_207510.3		9,88,5271	A1A1,A1R,RR		0.041,3.0152,0.9873				106,10630				SO:0001589	frameshift_variant	401562	exon3			.		CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"Lipocalins"	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	Exception_encountered	9.37:g.139879427_139879428insGG	ENSP00000386162:p.Leu154fs	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	217	14	0.0645161	NM_207510		Frame_Shift_Ins	INS	ENST00000408973.2	37	CCDS43908.1																																																																																			.	.	none		0.678	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356128.1	NM_207510		GG	139879428	-	GG	139879427	7	5	22	1	0	1	1	0	0	0	0	0	8688	1538	54	0	469	0	LCNL1	9	139879427	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	64496	139879427	1334004	5462	10570	215	2								
LCNL1	401562	hgsc.bcm.edu	37	chr9	139879429	139879429	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccctccctgcccctctcTccctctcttcgcccctccag							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139879429delT	ENST00000408973.2	+	3	1055	c.461delT	c.(460-462)ctcfs	p.L154fs	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	154																	tgcccctctctccctctcttc	0.682																																					p.L154fs		Atlas-Indel	.											.	LCNL1	4	.	0			c.460delC						PASS	.						8	11	10					9																	139879429		1791	3853	5644	SO:0001589	frameshift_variant	401562	exon3			.		CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"Lipocalins"	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.461delT	9.37:g.139879429delT	ENSP00000386162:p.Leu154fs	Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	209	15	0.0717703	NM_207510		Frame_Shift_Del	DEL	ENST00000408973.2	37	CCDS43908.1																																																																																			.	.	none		0.682	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356128.1	NM_207510		-	139879429	T	-	139879429	7	5	22	1	0	1	0	1	0	0	0	0	8688	1551	54	0	471	0	LCNL1	9	139879429	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	2	139879429	1334002	5463	10571	215	2								
ABCA2	20	hgsc.bcm.edu	37	chr9	139911983	139911983	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtggccaccgcgtagacTgccaggaagagccagatgat	14	10	0	4	rs12348881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139911983T>G	ENST00000371605.3	-	16	2517	c.2370A>C	c.(2368-2370)gcA>gcC	p.A790A	ABCA2_ENST00000265662.5_Silent_p.A791A|ABCA2_ENST00000341511.6_Silent_p.A791A|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	790					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGCGTAGACTGCCAGGAAGA	0.607													G|||	523	0.104433	0.1853	0.0994	5008	,	,		18298	0.0337		0.1074	False		,,,				2504	0.0685				p.A821A		Atlas-SNP	.											.	ABCA2	113	.	0			c.A2463C						PASS	.	G	,	821,3489		92,637,1426	57	66	63		2373,2463	-8.2	0.3	9	dbSNP_120	63	831,7649		38,755,3447	yes	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	130,1392,4873	GG,GT,TT		9.7995,19.0487,12.9163	,	791/2437,821/2467	139911983	1652,11138	2155	4240	6395	SO:0001819	synonymous_variant	20	exon17			GTAGACTGCCAGG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2370A>C	9.37:g.139911983T>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	39	0.65	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																				T|0.905;G|0.095	0.095	strong		0.607	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		G	139911983	T	G	139911983	2	3	22	1	0	0	0	0	0	0	0	1	32	1567	55	5		5	ABCA2	9	139911983	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32554	139911983	1301448	5464	10572										
ABCA2	20	hgsc.bcm.edu	37	chr9	139916833	139916833	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacacgggcggccaagagTgcttgggccgtgctattggg	16	11	0	1	rs35590326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139916833T>G	ENST00000371605.3	-	5	681	c.534A>C	c.(532-534)gcA>gcC	p.A178A	ABCA2_ENST00000265662.5_Silent_p.A179A|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.A179A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	178					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGCCAAGAGTGCTTGGGCCG	0.652													g|||	460	0.091853	0.1732	0.0937	5008	,	,		13783	0.0317		0.0994	False		,,,				2504	0.0348				p.A209A		Atlas-SNP	.											ABCA2,NS,carcinoma,0,1	ABCA2	113	1	0			c.A627C						scavenged	.	G	,	757,3287		82,593,1347	27	34	31		537,627	-0.6	0.8	9	dbSNP_126	31	714,7574		31,652,3461	yes	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	113,1245,4808	GG,GT,TT		8.6149,18.7191,11.9283	,	179/2437,209/2467	139916833	1471,10861	2022	4144	6166	SO:0001819	synonymous_variant	20	exon6			CAAGAGTGCTTGG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.534A>C	9.37:g.139916833T>G		Somatic	132	2	0.0151515		WXS	Illumina HiSeq	Phase_I	149	94	0.630872	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																				T|0.914;G|0.086	0.086	strong		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		G	139916833	T	G	139916833	2	3	22	1	0	0	0	0	0	0	0	1	32	1683	59	5		5	ABCA2	9	139916833	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4850	139916833	1296598	5465	10573										
FUT7	2529	hgsc.bcm.edu	37	chr9	139925459	139925459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtgccagccaccagtgcGttgcgccagaatttctccgt	10	14	1	1	rs11145973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139925459G>A	ENST00000314412.6	-	2	1750	c.732C>T	c.(730-732)aaC>aaT	p.N244N	ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000341511.6_5'Flank|ABCA2_ENST00000492260.1_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	244					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCACCAGTGCGTTGCGCCAGA	0.627													g|||	24	0.00479233	0.0166	0.0	5008	,	,		17645	0.0		0.001	False		,,,				2504	0.001				p.N244N		Atlas-SNP	.											.	FUT7	24	.	0			c.C732T						PASS	.		,	89,4317	67.0+/-104.6	2,85,2116	88	104	99		732,	-1.4	0.9	9	dbSNP_120	99	0,8598		0,0,4299	no	coding-synonymous,intron	FUT7,C9orf139	NM_004479.3,NM_207511.1	,	2,85,6415	AA,AG,GG		0.0,2.02,0.6844	,	244/343,	139925459	89,12915	2203	4299	6502	SO:0001819	synonymous_variant	2529	exon2			CAGTGCGTTGCGC	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"Fucosyltransferases"	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.732C>T	9.37:g.139925459G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	98	71	0.72449	NM_004479	B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	37	CCDS7022.1																																																																																			G|0.993;A|0.007	0.007	strong		0.627	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		A	139925459	G	A	139925459	2	1	22	1	0	0	0	0	0	0	0	1	6109	1136	40	1		1	FUT7	9	139925459	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8626	139925459	1287972	5466	10574										
ENTPD2	954	hgsc.bcm.edu	37	chr9	139943112	139943112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcccccgtcggcccctaAatggtgcttggcagcttggc	13	15	0	0	rs17853460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139943112A>G	ENST00000355097.2	-	9	1532	c.1485T>C	c.(1483-1485)atT>atC	p.I495I	ENTPD2_ENST00000460614.1_5'UTR|NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371601.4_5'Flank|ENTPD2_ENST00000312665.5_Silent_p.I472I	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	495					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGGCCCCTAAATGGTGCTTG	0.682													A|||	1152	0.230032	0.0855	0.3156	5008	,	,		5420	0.3522		0.2266	False		,,,				2504	0.2423				p.I495I		Atlas-SNP	.											.	ENTPD2	30	.	0			c.T1485C						PASS	.	A	,	512,3836		40,432,1702	12	12	12		1416,1485	2.7	0.1	9	dbSNP_123	12	1832,6718		191,1450,2634	no	coding-synonymous,coding-synonymous	ENTPD2	NM_001246.2,NM_203468.1	,	231,1882,4336	GG,GA,AA		21.4269,11.7755,18.1734	,	472/473,495/496	139943112	2344,10554	2174	4275	6449	SO:0001819	synonymous_variant	954	exon9			CCCCTAAATGGTG	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1485T>C	9.37:g.139943112A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	89	58	0.651685	NM_203468	O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	CCDS7026.1																																																																																			A|0.802;G|0.198	0.198	strong		0.682	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		G	139943112	A	G	139943112	2	3	22	1	0	0	0	0	0	0	0	1	5139	10	1	2		2	ENTPD2	9	139943112	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17653	139943112	1270319	5467	10575										
ENTPD2	954	hgsc.bcm.edu	37	chr9	139945363	139945363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggggcacctggagggcGctggccagcagcctctggag	19	11	1	0	rs2292925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:139945363G>A	ENST00000355097.2	-	5	812	c.765C>T	c.(763-765)agC>agT	p.S255S	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Silent_p.S255S	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	255					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTGGAGGGCGCTGGCCAGCA	0.647													G|||	1097	0.21905	0.0507	0.317	5008	,	,		14884	0.3472		0.2247	False		,,,				2504	0.2393				p.S255S		Atlas-SNP	.											.	ENTPD2	30	.	0			c.C765T						PASS	.	G	,	386,4008	188.1+/-214.6	18,350,1829	47	39	42		765,765	-1.4	0.1	9	dbSNP_100	42	1938,6656	337.7+/-322.4	209,1520,2568	no	coding-synonymous,coding-synonymous	ENTPD2	NM_001246.2,NM_203468.1	,	227,1870,4397	AA,AG,GG		22.5506,8.7847,17.8934	,	255/473,255/496	139945363	2324,10664	2197	4297	6494	SO:0001819	synonymous_variant	954	exon5			GAGGGCGCTGGCC	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.765C>T	9.37:g.139945363G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	69	44	0.637681	NM_203468	O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	CCDS7026.1																																																																																			G|0.806;A|0.194	0.194	strong		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		A	139945363	G	A	139945363	2	1	22	1	0	0	0	0	0	0	0	1	5139	1078	38	1		1	ENTPD2	9	139945363	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2251	139945363	1268068	5468	10576										
DPP7	29952	hgsc.bcm.edu	37	chr9	140005117	140005118	+	Frame_Shift_Ins	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagaggctgagtctgggINSccccccacgcagagctggct					rs11391519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140005117_140005118insC	ENST00000371579.2	-	13	1465_1466	c.1461_1462insG	c.(1459-1464)gggcccfs	p.P488fs		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	488						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)		CTGAGTCTGGGCCCCCCACGCA	0.644													CCCCCC|CCCCCC|CCCCCCC|insertion	168	0.0335463	0.1157	0.0043	5008	,	,		15960	0.005		0.0	False		,,,				2504	0.0072				p.P488fs		Pindel,Atlas-Indel	.											.	DPP7	22	.	0			c.1462_1463insG						PASS	.			406,3854		27,352,1751						2	0		dbSNP_120	43	8,8238		0,8,4115	no	frameshift	DPP7	NM_013379.2		27,360,5866	A1A1,A1R,RR		0.097,9.5305,3.3104				414,12092				SO:0001589	frameshift_variant	29952	exon13			.	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.1462dupG	9.37:g.140005123_140005123dupC	ENSP00000360635:p.Pro488fs	Somatic	42	.	.		WXS	Illumina HiSeq	Phase_I	43	18	0.419	NM_013379	A8K7U7|Q5VSF1|Q969X4	Frame_Shift_Ins	INS	ENST00000371579.2	37	CCDS7030.1																																																																																			-|0.973;C|0.027	0.027	strong		0.644	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		C	140005118	-	C	140005117	7	5	22	1	0	1	1	0	0	0	0	0	4731	1203	42	0	20	0	DPP7	9	140005117	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	59754	140005117	1208314	5469	10577										
TPRN	286262	hgsc.bcm.edu	37	chr9	140086940	140086940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgagagctctcgggtctCacgctgctcacaaacgtggc	12	14	3	1	rs115446132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140086940C>T	ENST00000409012.4	-	2	2015	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Silent_p.V582V	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	643					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TCTCGGGTCTCACGCTGCTCA	0.642													C|||	20	0.00399361	0.0129	0.0043	5008	,	,		17266	0.0		0.0	False		,,,				2504	0.0				p.V643V		Atlas-SNP	.											.	TPRN	28	.	0			c.G1929A						PASS	.	C		48,4356	46.7+/-81.2	0,48,2154	33	26	28		1929	3	0	9	dbSNP_132	28	0,8596		0,0,4298	no	coding-synonymous	TPRN	NM_001128228.2		0,48,6452	TT,TC,CC		0.0,1.0899,0.3692		643/712	140086940	48,12952	2202	4298	6500	SO:0001819	synonymous_variant	286262	exon2			GGGTCTCACGCTG	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1929G>A	9.37:g.140086940C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	71	41	0.577465	NM_001128228	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	CCDS56594.1																																																																																			C|0.996;T|0.004	0.004	strong		0.642	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		T	140086940	C	T	140086940	2	4	22	1	0	0	0	0	0	0	0	1	16418	813	29	2		2	TPRN	9	140086940	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81823	140086940	1126491	5470	10578										
TMEM203	94107	hgsc.bcm.edu	37	chr9	140099675	140099675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgcacggacacgatggtGgtgaagtaggtgctgagccc	17	9	0	2	rs113235610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140099675G>A	ENST00000343666.5	-	1	415	c.192C>T	c.(190-192)acC>acT	p.T64T	NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank|TPRN_ENST00000541945.1_5'Flank|TMEM203_ENST00000537254.1_Silent_p.T64T|NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	64						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACACGATGGTGGTGAAGTAGG	0.617													G|||	33	0.00658946	0.0212	0.0072	5008	,	,		15733	0.0		0.0	False		,,,				2504	0.0				p.T64T		Atlas-SNP	.											TMEM203,NS,carcinoma,0,1	TMEM203	8	1	0			c.C192T						PASS	.	G		83,4319	70.3+/-108.2	1,81,2119	45	47	46		192	3.1	1	9	dbSNP_132	46	0,8584		0,0,4292	no	coding-synonymous	TMEM203	NM_053045.1		1,81,6411	AA,AG,GG		0.0,1.8855,0.6391		64/137	140099675	83,12903	2201	4292	6493	SO:0001819	synonymous_variant	94107	exon1			GATGGTGGTGAAG	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.192C>T	9.37:g.140099675G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	80	56	0.7	NM_053045	Q6NW08	Silent	SNP	ENST00000343666.5	37	CCDS35185.1																																																																																			G|0.992;A|0.008	0.008	strong		0.617	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		A	140099675	G	A	140099675	2	1	22	1	0	0	0	0	0	0	0	1	16125	1335	47	2		2	TMEM203	9	140099675	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12735	140099675	1113756	5471	10579										
NDOR1	27158	hgsc.bcm.edu	37	chr9	140108468	140108468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacttgtgggacagggttCtggggctgtacccgccgcct	16	11	1	1	rs114934623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140108468C>T	ENST00000344894.5	+	5	543	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	NDOR1_ENST00000427047.2_Intron|NDOR1_ENST00000458322.2_Silent_p.L154L|NDOR1_ENST00000371521.4_Silent_p.L154L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGACAGGGTTCTGGGGCTGTA	0.711													C|||	26	0.00519169	0.0182	0.0029	5008	,	,		14886	0.0		0.0	False		,,,				2504	0.0				p.L154L		Atlas-SNP	.											.	NDOR1	71	.	0			c.C460T						PASS	.	C	,,,	43,4245		0,43,2101	18	22	21		460,,460,460	2.3	0.6	9	dbSNP_132	21	0,8378		0,0,4189	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	NDOR1	NM_001144026.1,NM_001144027.1,NM_001144028.1,NM_014434.2	,,,	0,43,6290	TT,TC,CC		0.0,1.0028,0.3395	,,,	154/607,,154/591,154/598	140108468	43,12623	2144	4189	6333	SO:0001819	synonymous_variant	27158	exon5			AGGGTTCTGGGGC	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.460C>T	9.37:g.140108468C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	69	15	0.217391	NM_001144026		Silent	SNP	ENST00000344894.5	37	CCDS7036.1																																																																																			C|0.994;T|0.006	0.006	strong		0.711	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		T	140108468	C	T	140108468	2	4	22	1	0	0	0	0	0	0	0	1	10249	912	32	2		2	NDOR1	9	140108468	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8793	140108468	1104963	5472	10580										
RNF208	727800	hgsc.bcm.edu	37	chr9	140115554	140115554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcagggaacttttcaggGtggacaatcttcatggcctc	11	10	4	0	rs144152667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140115554G>A	ENST00000392827.1	-	2	279	c.111C>T	c.(109-111)caC>caT	p.H37H	RNF208_ENST00000391553.1_Silent_p.H37H			Q9H0X6	RN208_HUMAN	ring finger protein 208	37					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTTTCAGGGTGGACAATCT	0.667													G|||	151	0.0301518	0.0507	0.0634	5008	,	,		10373	0.0129		0.0209	False		,,,				2504	0.0061				p.H37H		Atlas-SNP	.											.	RNF208	11	.	0			c.C111T						PASS	.	G		190,3734		6,178,1778	17	21	20		111	0.2	1	9	dbSNP_134	20	157,8129		2,153,3988	no	coding-synonymous	RNF208	NM_031297.4		8,331,5766	AA,AG,GG		1.8948,4.842,2.8419		37/262	140115554	347,11863	1962	4143	6105	SO:0001819	synonymous_variant	727800	exon1			TTCAGGGTGGACA	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.111C>T	9.37:g.140115554G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	156	48	0.307692	NM_031297	A2BFA0	Silent	SNP	ENST00000392827.1	37	CCDS7037.2																																																																																			G|0.964;A|0.036	0.036	strong		0.667	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		A	140115554	G	A	140115554	2	1	22	1	0	0	0	0	0	0	0	1	13475	1252	44	2		2	RNF208	9	140115554	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7086	140115554	1097877	5473	10581										
FAM166A	401565	hgsc.bcm.edu	37	chr9	140140188	140140188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacttgggtttggacatGggggacagcacagagcaggg	17	6	0	2	rs112239130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140140188G>A	ENST00000344774.4	-	2	228	c.174C>T	c.(172-174)ccC>ccT	p.P58P	FAM166A_ENST00000388932.2_Silent_p.P58P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	58						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTTTGGACATGGGGGACAGCA	0.622													G|||	33	0.00658946	0.0234	0.0029	5008	,	,		18282	0.0		0.0	False		,,,				2504	0.0				p.P58P		Atlas-SNP	.											.	FAM166A	44	.	0			c.C174T						PASS	.	G		69,4337	63.5+/-100.7	0,69,2134	55	58	57		174	-2.9	0.3	9	dbSNP_132	57	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FAM166A	NM_001001710.1		0,70,6432	AA,AG,GG		0.0116,1.566,0.5383		58/318	140140188	70,12934	2203	4299	6502	SO:0001819	synonymous_variant	401565	exon2			GGACATGGGGGAC	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.174C>T	9.37:g.140140188G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	116	76	0.655172	NM_001001710	A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	CCDS35186.1																																																																																			G|0.992;A|0.008	0.008	strong		0.622	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		A	140140188	G	A	140140188	2	1	22	1	0	0	0	0	0	0	0	1	5481	1335	47	2		2	FAM166A	9	140140188	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24634	140140188	1073243	5474	10582										
C9orf173	441476	hgsc.bcm.edu	37	chr9	140146526	140146526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtaccaggtgccgagcccGtccgtacgagagtcctcccc	12	16	0	1	rs74822962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140146526G>A	ENST00000412566.1	+	3	351	c.342G>A	c.(340-342)ccG>ccA	p.P114P	C9orf173_ENST00000388931.3_Silent_p.P114P			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	114								p.P114P(1)		kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						TGCCGAGCCCGTCCGTACGAG	0.672													G|||	36	0.0071885	0.0257	0.0029	5008	,	,		16156	0.0		0.0	False		,,,				2504	0.0				p.P114P		Atlas-SNP	.											C9orf173,colon,carcinoma,0,1	C9orf173	19	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G342A						PASS	.	G		64,4044		0,64,1990	40	50	47		342	-7.8	0	9	dbSNP_132	47	1,8369		0,1,4184	no	coding-synonymous	C9orf173	NM_001004353.2		0,65,6174	AA,AG,GG		0.0119,1.5579,0.5209		114/309	140146526	65,12413	2054	4185	6239	SO:0001819	synonymous_variant	441476	exon3			GAGCCCGTCCGTA		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.342G>A	9.37:g.140146526G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	71	52	0.732394	NM_001256701	A2RU24|B7ZM72|B7ZM76|Q8NEA3	Silent	SNP	ENST00000412566.1	37	CCDS48065.1																																																																																			G|0.991;A|0.009	0.009	strong		0.672	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		A	140146526	G	A	140146526	2	1	22	1	0	0	0	0	0	0	0	1	2472	1132	40	1		1	C9orf173	9	140146526	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6338	140146526	1066905	5475	10583										
EXD3	54932	hgsc.bcm.edu	37	chr9	140201604	140201604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacccctgccagctgcagcCgggtgccgtcggccagcatg	15	16	0	0	rs28685844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140201604C>T	ENST00000340951.4	-	22	2624	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	EXD3_ENST00000342129.4_Missense_Mutation_p.R448Q	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CAGCTGCAGCCGGGTGCCGTC	0.697													C|||	240	0.0479233	0.0204	0.0101	5008	,	,		12927	0.1458		0.008	False		,,,				2504	0.0521				p.R810Q		Atlas-SNP	.											EXD3_ENST00000340951,NS,carcinoma,0,1	EXD3	86	1	0			c.G2429A						scavenged	.	C	GLN/ARG	72,3920		0,72,1924	11	14	13		2429	-4	0	9	dbSNP_125	13	51,8271		1,49,4111	no	missense	EXD3	NM_017820.3	43	1,121,6035	TT,TC,CC		0.6128,1.8036,0.9989	benign	810/877	140201604	123,12191	1996	4161	6157	SO:0001583	missense	54932	exon22			TGCAGCCGGGTGC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2429G>A	9.37:g.140201604C>T	ENSP00000340474:p.Arg810Gln	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	111	87	0.783784	NM_017820	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	94	0.04304029304029304	14	0.028455284552845527	2	0.0055248618784530384	72	0.1258741258741259	6	0.0079155672823219	C	12.91	2.080318	0.36662	0.018036	0.006128	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.64260	-0.09;0.63	4.42	-3.99	0.04069	.	.	.	.	.	T	0.00468	0.0015	L	0.43923	1.385	0.80722	P	0.0	B;B	0.27910	0.107;0.193	B;B	0.19946	0.027;0.014	T	0.05784	-1.0864	8	0.25106	T	0.35	.	1.0757	0.01632	0.2167:0.1659:0.3759:0.2415	rs28685844;rs28685844	448;810	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	Q	448;810	ENSP00000343705:R448Q;ENSP00000340474:R810Q	ENSP00000340474:R810Q	R	-	2	0	EXD3	139321425	0.270000	0.24152	0.000000	0.03702	0.001000	0.01503	-0.364000	0.07583	-0.596000	0.05821	-0.291000	0.09656	CGG	C|0.957;T|0.043	0.043	strong		0.697	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140201604	C	T	140201604	3	4	22	1	0	0	0	0	1	0	0	0	5299	652	23	1	205	1	EXD3	9	140201604	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55078	140201604	1011827	5476	10584										
EXD3	54932	hgsc.bcm.edu	37	chr9	140218212	140218212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtctgcgtgggtgacacGcacgttgaaatgcttgagca	14	8	1	3	rs56750318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140218212G>A	ENST00000340951.4	-	19	2344	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	EXD3_ENST00000342129.4_Missense_Mutation_p.R368C	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGGGTGACACGCACGTTGAAA	0.672													G|||	343	0.0684904	0.2504	0.0159	5008	,	,		15324	0.0		0.001	False		,,,				2504	0.0				p.R717C		Atlas-SNP	.											.	EXD3	86	.	0			c.C2149T						PASS	.	G	CYS/ARG	794,3434		61,672,1381	49	56	54		2149	2	0	9	dbSNP_129	54	14,8456		0,14,4221	yes	missense	EXD3	NM_017820.3	180	61,686,5602	AA,AG,GG		0.1653,18.7796,6.3632	benign	717/877	140218212	808,11890	2114	4235	6349	SO:0001583	missense	54932	exon19			TGACACGCACGTT		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2149C>T	9.37:g.140218212G>A	ENSP00000340474:p.Arg717Cys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	97	29	0.298969	NM_017820	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	118	0.05402930402930403	114	0.23170731707317074	4	0.011049723756906077	0	0.0	0	0.0	G	7.535	0.659472	0.14645	0.187796	0.001653	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66280	-0.2;0.56	3.9	2.01	0.26516	.	0.304355	0.32802	N	0.005624	T	0.00039	0.0001	L	0.38531	1.155	0.33825	P	0.37048099999999995	B;B	0.32781	0.384;0.274	B;B	0.23275	0.023;0.045	T	0.04708	-1.0932	9	0.56958	D	0.05	.	7.7883	0.29106	0.2171:0.0:0.7829:0.0	rs56750318	368;717	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	C	368;717	ENSP00000343705:R368C;ENSP00000340474:R717C	ENSP00000340474:R717C	R	-	1	0	EXD3	139338033	0.009000	0.17119	0.004000	0.12327	0.090000	0.18270	1.489000	0.35562	0.136000	0.18733	0.305000	0.20034	CGT	G|0.957;A|0.043	0.043	strong		0.672	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		A	140218212	G	A	140218212	3	1	22	1	0	0	0	0	1	0	0	0	5299	1087	38	1	497	1	EXD3	9	140218212	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16608	140218212	995219	5477	10585										
EXD3	54932	hgsc.bcm.edu	37	chr9	140247103	140247103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaaccggcggagttccaCagccaccgcagccggcagcc	12	18	0	1	rs115998217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140247103C>T	ENST00000340951.4	-	11	1201	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	EXD3_ENST00000342129.4_Missense_Mutation_p.V16M	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGAGTTCCACAGCCACCGCA	0.701													C|||	163	0.0325479	0.1142	0.0101	5008	,	,		8184	0.001		0.004	False		,,,				2504	0.0				p.V336M		Atlas-SNP	.											.	EXD3	86	.	0			c.G1006A						PASS	.	C	MET/VAL	259,3395		3,253,1571	5	7	6		1006	-0.7	0	9	dbSNP_132	6	35,7739		0,35,3852	yes	missense	EXD3	NM_017820.3	21	3,288,5423	TT,TC,CC		0.4502,7.0881,2.5726	benign	336/877	140247103	294,11134	1827	3887	5714	SO:0001583	missense	54932	exon11			GTTCCACAGCCAC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1006G>A	9.37:g.140247103C>T	ENSP00000340474:p.Val336Met	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	78	29	0.371795	NM_017820	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	84	0.038461538461538464	78	0.15853658536585366	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	10.88	1.476873	0.26511	0.070881	0.004502	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.64085	-0.08;0.68	3.69	-0.678	0.11353	.	0.954002	0.08598	N	0.921938	T	0.00210	0.0006	N	0.22421	0.69	0.80722	P	0.0	P;P	0.46327	0.876;0.831	B;B	0.41036	0.346;0.254	T	0.01848	-1.1261	9	0.54805	T	0.06	.	4.8317	0.13443	0.0:0.5455:0.1562:0.2983	.	16;336	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	M	16;336	ENSP00000343705:V16M;ENSP00000340474:V336M	ENSP00000340474:V336M	V	-	1	0	EXD3	139366924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.999000	0.03697	-0.415000	0.07484	-0.494000	0.04653	GTG	C|0.960;T|0.040	0.040	strong		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140247103	C	T	140247103	3	4	22	1	0	0	0	0	1	0	0	0	5299	478	17	2	1672	2	EXD3	9	140247103	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28891	140247103	966328	5478	10586										
WDR85	92715	hgsc.bcm.edu	37	chr9	140472034	140472034	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcctaaacggacctgagGctccttaacttccattccac	7	15	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140472034G>C	ENST00000277540.2	-	2	332	c.175C>G	c.(175-177)Cct>Gct	p.P59A	DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	59					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CGGACCTGAGGCTCCTTAACT	0.458																																					p.P59A		Atlas-SNP	.											.	WDR85	20	.	0			c.C175G						PASS	.						110	98	102					9																	140472034		2203	4300	6503	SO:0001583	missense	92715	exon2			CCTGAGGCTCCTT	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"WD repeat domain containing"	25199	protein-coding gene	gene with protein product		613210	"chromosome 9 open reading frame 112", "WD repeat domain 85"	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.175C>G	9.37:g.140472034G>C	ENSP00000277540:p.Pro59Ala	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	133	92	0.691729	NM_138778	Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471496	0.43942	.	.	ENSG00000148399	ENST00000277540	T	0.12569	2.67	5.11	4.2	0.49525	.	0.243332	0.33875	N	0.004464	T	0.09468	0.0233	L	0.32530	0.975	0.29436	N	0.859517	B	0.33549	0.417	B	0.30105	0.111	T	0.11690	-1.0577	10	0.21540	T	0.41	.	10.6122	0.45429	0.0936:0.0:0.9064:0.0	.	59	Q9BTV6	WDR85_HUMAN	A	59	ENSP00000277540:P59A	ENSP00000277540:P59A	P	-	1	0	WDR85	139591855	0.998000	0.40836	0.361000	0.25849	0.016000	0.09150	1.030000	0.30153	2.363000	0.80096	0.455000	0.32223	CCT	.	.	none		0.458	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		C	140472034	G	C	140472034	3	2	22	1	0	0	0	0	1	0	0	0	17330	1203	42	4	1215	4	WDR85	9	140472034	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224931	140472034	741397	5479	10587										
EHMT1	79813	hgsc.bcm.edu	37	chr9	140671147	140671147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcctctcgagtcaataaCgccagctattgtccccactg	8	14	2	0	rs7868455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140671147C>T	ENST00000460843.1	+	12	1896	c.1869C>T	c.(1867-1869)aaC>aaT	p.N623N	EHMT1_ENST00000462484.1_Silent_p.N623N|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.N592N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	623					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGTCAATAACGCCAGCTATT	0.527													C|||	315	0.0628994	0.2315	0.0115	5008	,	,		18209	0.0		0.001	False		,,,				2504	0.0				p.N623N		Atlas-SNP	.											.	EHMT1	196	.	0			c.C1869T						PASS	.	C	,	712,3694	297.3+/-284.7	63,586,1554	126	111	116		1869,1869	-6.8	0.8	9	dbSNP_116	116	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous,coding-synonymous	EHMT1	NM_001145527.1,NM_024757.4	,	63,597,5843	TT,TC,CC		0.1279,16.1598,5.559	,	623/809,623/1299	140671147	723,12283	2203	4300	6503	SO:0001819	synonymous_variant	79813	exon12			CAATAACGCCAGC	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1869C>T	9.37:g.140671147C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_001145527	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																			C|0.939;T|0.061	0.061	strong		0.527	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		T	140671147	C	T	140671147	2	4	22	1	0	0	0	0	0	0	0	1	4983	535	19	1		1	EHMT1	9	140671147	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199113	140671147	542284	5480	10588										
EHMT1	79813	hgsc.bcm.edu	37	chr9	140707590	140707590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgcaggactcggccccCgacaggcccagccccgtgga	13	18	1	0	rs35943616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140707590C>T	ENST00000460843.1	+	20	3027	c.3000C>T	c.(2998-3000)ccC>ccT	p.P1000P		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1000					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTCGGCCCCCGACAGGCCCA	0.622													C|||	555	0.110823	0.4017	0.0274	5008	,	,		17819	0.005		0.0	False		,,,				2504	0.0				p.P1000P		Atlas-SNP	.											.	EHMT1	196	.	0			c.C3000T						PASS	.	C		1428,2978	446.9+/-348.2	236,956,1011	34	40	38		3000	-9.4	0	9	dbSNP_126	38	12,8588	7.7+/-29.5	1,10,4289	no	coding-synonymous	EHMT1	NM_024757.4		237,966,5300	TT,TC,CC		0.1395,32.4103,11.0718		1000/1299	140707590	1440,11566	2203	4300	6503	SO:0001819	synonymous_variant	79813	exon20			GGCCCCCGACAGG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3000C>T	9.37:g.140707590C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_024757	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																			C|0.899;T|0.101	0.101	strong		0.622	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		T	140707590	C	T	140707590	2	4	22	1	0	0	0	0	0	0	0	1	4983	639	23	1		1	EHMT1	9	140707590	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36443	140707590	505841	5481	10589										
CACNA1B	774	hgsc.bcm.edu	37	chr9	140918171	140918185	+	In_Frame_Del	DEL	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctgctcacgaggctgtGgagaaggagaccacggagaa					rs145816559|rs11137342|rs370787788|rs551405755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140918171_140918185delGGAGAAGGAGACCAC	ENST00000371372.1	+	19	3121_3135	c.2976_2990delGGAGAAGGAGACCAC	c.(2974-2991)gtggagaaggagaccacg>gtg	p.EKETT993del	CACNA1B_ENST00000371367.5_5'UTR|CACNA1B_ENST00000371357.1_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.EKETT993del|CACNA1B_ENST00000277549.5_In_Frame_Del_p.EKETT185del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.EKETT993del|CACNA1B_ENST00000545473.1_5'Flank	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	993					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.T996_E1000delTTEKE(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGAGGCTGTGGAGAAGGAGACCACGGAGAAGGAG	0.735														1990	0.397364	0.6225	0.1282	5008	,	,		9031	0.6349		0.1521	False		,,,				2504	0.2914				p.992_997del		Pindel,Atlas-Indel	.											.	CACNA1B	266	.	1	Deletion - In frame(1)	breast(1)	c.2975_2989del						PASS	.			1091,1197		364,363,417						-1.3	0		dbSNP_134	8	691,4399		126,439,1980	no	coding	CACNA1B	NM_000718.3		490,802,2397	A1A1,A1R,RR		13.5756,47.6836,24.1529				1782,5596				SO:0001651	inframe_deletion	774	exon19			.	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2976_2990delGGAGAAGGAGACCAC	9.37:g.140918171_140918185delGGAGAAGGAGACCAC	ENSP00000360423:p.Glu993_Thr997del	Somatic	108	.	.		WXS	Illumina HiSeq	Phase_I	41	27	0.659	NM_001243812	B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	CCDS59522.1																																																																																			GGAGAAGGAGACCAC|0.621;-|0.379	0.379	strong		0.735	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		-	140918185	GGAGAAGGAGACCAC	-	140918171	7	5	22	1	0	1	0	1	0	0	0	0	2539	1335	47	0	3050	0	CACNA1B	9	140918171	In_Frame_Del	DEL	GGAGAAGGAGACCAC	TCGA-G8-6324-01A-11D-2210-10	210581	140918171	295260	5482	10590										
CACNA1B	774	hgsc.bcm.edu	37	chr9	140952690	140952690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatgtctgaatgcagcctGgagaagaacgaggtaggtgg	17	5	1	4	rs2229950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr9:140952690G>A	ENST00000371372.1	+	28	4441	c.4296G>A	c.(4294-4296)ctG>ctA	p.L1432L	CACNA1B_ENST00000277549.5_Silent_p.L628L|CACNA1B_ENST00000371357.1_Silent_p.L1433L|CACNA1B_ENST00000277551.2_Silent_p.L1432L|CACNA1B_ENST00000371363.1_Silent_p.L1432L|CACNA1B_ENST00000371355.4_Silent_p.L1433L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1432					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AATGCAGCCTGGAGAAGAACG	0.537													G|||	1000	0.199681	0.5166	0.0432	5008	,	,		23336	0.1855		0.0149	False		,,,				2504	0.0869				p.L1432L		Atlas-SNP	.											.	CACNA1B	266	.	0			c.G4296A						PASS	.	G		1758,2596		385,988,804	195	191	192		4296	3.2	1	9	dbSNP_98	192	63,8465		0,63,4201	no	coding-synonymous	CACNA1B	NM_000718.3		385,1051,5005	AA,AG,GG		0.7387,40.3767,14.136		1432/2340	140952690	1821,11061	2177	4264	6441	SO:0001819	synonymous_variant	774	exon28			CAGCCTGGAGAAG	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4296G>A	9.37:g.140952690G>A		Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_001243812	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																			G|0.843;A|0.157	0.157	strong		0.537	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	140952690	G	A	140952690	2	1	22	1	0	0	0	0	0	0	0	1	2539	1335	47	2		2	CACNA1B	9	140952690	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34519	140952690	260741	5483	10591										
TUBB8	347688	hgsc.bcm.edu	37	chr10	93714	93714	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggaacatatgtcatacagAgcttcgttatctatgcaaaa	7	7	2	1	rs41288743		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:93714A>C	ENST00000309812.4	-	4	680	c.618T>G	c.(616-618)gcT>gcG	p.A206A	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Silent_p.A134A|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	206					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTCATACAGAGCTTCGTTAT	0.537																																					p.A206A	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,NS,carcinoma,0,1	TUBB8	62	1	0			c.T618G						scavenged	.						94	87	90					10																	93714		2203	4299	6502	SO:0001819	synonymous_variant	347688	exon4			ATACAGAGCTTCG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.618T>G	10.37:g.93714A>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	84	14	0.166667	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			.	.	weak		0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	93714	A	C	93714	2	2	22	1	0	0	0	0	0	0	0	1	16758	291	11	5		5	TUBB8	10	93714	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10		93714	135441033	5484	10592										
TUBB8	347688	hgsc.bcm.edu	37	chr10	94562	94562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcagctcaccgaagatGaagttgtctggcctgaagac	12	12	2	4	rs145350711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:94562G>A	ENST00000309812.4	-	3	332	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Silent_p.F18F|TUBB8_ENST00000332708.5_Missense_Mutation_p.S54L	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	90					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACCGAAGATGAAGTTGTCTG	0.637													g|||	2	0.000399361	0.0015	0.0	5008	,	,		15565	0.0		0.0	False		,,,				2504	0.0				p.F90F	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											.	TUBB8	62	.	0			c.C270T						PASS	.	G		16,4386	21.2+/-45.6	0,16,2185	42	52	49		270	0.1	0	10	dbSNP_134	49	0,8596		0,0,4298	no	coding-synonymous	TUBB8	NM_177987.2		0,16,6483	AA,AG,GG		0.0,0.3635,0.1231		90/445	94562	16,12982	2201	4298	6499	SO:0001819	synonymous_variant	347688	exon3			GAAGATGAAGTTG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.270C>T	10.37:g.94562G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	111	62	0.558559	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	6.257	0.415577	0.11870	0.003635	0.0	ENSG00000173876	ENST00000332708	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55598	-0.8116	5	0.87932	D	0	.	2.6667	0.05054	0.4741:0.0:0.5259:0.0	.	.	.	.	L	54	.	ENSP00000371071:S54L	S	-	2	0	RP11-631M21.2	84562	0.988000	0.35896	0.031000	0.17742	0.032000	0.12392	0.081000	0.14823	0.181000	0.19994	0.184000	0.17185	TCA	G|0.999;A|0.001	0.001	strong		0.637	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	94562	G	A	94562	2	1	22	1	0	0	0	0	0	0	0	1	16758	1281	45	2		2	TUBB8	10	94562	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	848	94562	135440185	5485	10593										
TUBB8	347688	hgsc.bcm.edu	37	chr10	95167	95167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccgatctgcgtgagcacGatctccctcatggccaaggc	11	15	3	1	rs202227666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95167G>A	ENST00000309812.4	-	1	74	c.12C>T	c.(10-12)atC>atT	p.I4I	TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Silent_p.I4I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	4					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCGTGAGCACGATCTCCCTCA	0.667																																					p.I4I	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,colon,carcinoma,-2,2	TUBB8	62	2	0			c.C12T						scavenged	.						18	17	17					10																	95167		2197	4294	6491	SO:0001819	synonymous_variant	347688	exon1			GAGCACGATCTCC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.12C>T	10.37:g.95167G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	148	8	0.0540541	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			G|0.980;A|0.019	0.019	strong		0.667	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	95167	G	A	95167	2	1	22	1	0	0	0	0	0	0	0	1	16758	1048	37	1		1	TUBB8	10	95167	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	605	95167	135439580	5486	10594										
ADARB2	105	hgsc.bcm.edu	37	chr10	1405835	1405835	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctccaccgctaccgcgaaGaccggggcatgcaccgggcc	12	18	0	1	rs35398040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:1405835G>A	ENST00000381312.1	-	3	790	c.465C>T	c.(463-465)gtC>gtT	p.V155V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	155	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTACCGCGAAGACCGGGGCAT	0.692													g|||	72	0.014377	0.0522	0.0043	5008	,	,		9729	0.0		0.0	False		,,,				2504	0.0				p.V155V		Atlas-SNP	.											.	ADARB2	95	.	0			c.C465T						PASS	.			185,4221	107.8+/-146.2	5,175,2023	35	30	32		465	1.2	1	10	dbSNP_126	32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADARB2	NM_018702.3		5,176,6322	AA,AG,GG		0.0116,4.1988,1.4301		155/740	1405835	186,12820	2203	4300	6503	SO:0001819	synonymous_variant	105	exon3			CGCGAAGACCGGG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.465C>T	10.37:g.1405835G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_018702	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																			G|0.981;A|0.019	0.019	strong		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		A	1405835	G	A	1405835	2	1	22	1	0	0	0	0	0	0	0	1	283	929	33	2		2	ADARB2	10	1405835	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1310668	1405835	134128912	5487	10595										
PFKP	5214	hgsc.bcm.edu	37	chr10	3177944	3177944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggaaaaaaatttaccacCgatgattccatttgtgtgct	7	7	0	1	rs61731934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:3177944C>T	ENST00000381125.4	+	21	2215	c.2139C>T	c.(2137-2139)acC>acT	p.T713T	PFKP_ENST00000381075.2_Silent_p.T705T|PFKP_ENST00000381072.1_Silent_p.T131T|PITRM1_ENST00000464395.1_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	713	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AATTTACCACCGATGATTCCA	0.413													C|||	53	0.0105831	0.0356	0.0043	5008	,	,		18020	0.0		0.001	False		,,,				2504	0.002				p.T713T		Atlas-SNP	.											PFKP_ENST00000381075,NS,carcinoma,+2,2	PFKP	182	2	0			c.C2139T						PASS	.	C	,	224,4182	130.6+/-167.2	9,206,1988	62	63	63		2115,2139	-7.3	0	10	dbSNP_129	63	5,8595	5.0+/-18.6	0,5,4295	yes	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	9,211,6283	TT,TC,CC		0.0581,5.084,1.7607	,	705/777,713/785	3177944	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	5214	exon21			TACCACCGATGAT	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2139C>T	10.37:g.3177944C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	CCDS7059.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	c	2.293	-0.362014	0.05103	0.05084	5.81E-4	ENSG00000067057	ENST00000433193	.	.	.	5.21	-7.26	0.01466	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.48288	D	0.999629	.	.	.	.	.	.	T	0.59413	-0.7459	4	.	.	.	.	13.2504	0.60048	0.0:0.5807:0.1633:0.256	rs61731934	.	.	.	L	66	.	.	P	+	2	0	PFKP	3167944	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.635000	0.00108	-1.087000	0.03081	-1.012000	0.02466	CCG	C|0.983;T|0.017	0.017	strong		0.413	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		T	3177944	C	T	3177944	2	4	22	1	0	0	0	0	0	0	0	1	11766	639	23	1		1	PFKP	10	3177944	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1772109	3177944	132356803	5488	10596										
PITRM1	10531	hgsc.bcm.edu	37	chr10	3180298	3180298	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccaggccgtgtgtgctCttcccagtgccgaggtatct	13	12	2	0	rs10175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:3180298C>T	ENST00000224949.4	-	27	3073	c.3039G>A	c.(3037-3039)aaG>aaA	p.K1013K	PITRM1_ENST00000380994.1_Silent_p.K571K|PITRM1_ENST00000451104.2_Silent_p.K915K|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Silent_p.K1014K			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1013					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGTGTGCTCTTCCCAGTGC	0.607													C|||	1180	0.235623	0.2027	0.3473	5008	,	,		17500	0.1617		0.3121	False		,,,				2504	0.1984				p.K1014K		Atlas-SNP	.											.	PITRM1	109	.	0			c.G3042A						PASS	.	C	,,	989,3275		113,763,1256	46	51	49		3042,2745,3039	1.8	0.2	10	dbSNP_52	49	2305,6179		314,1677,2251	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	427,2440,3507	TT,TC,CC		27.1688,23.1942,25.8393	,,	1014/1039,915/940,1013/1038	3180298	3294,9454	2132	4242	6374	SO:0001819	synonymous_variant	10531	exon27			TGTGCTCTTCCCA	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3039G>A	10.37:g.3180298C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	111	46	0.414414	NM_001242307	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																			C|0.756;T|0.244	0.244	strong		0.607	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3180298	C	T	3180298	2	4	22	1	0	0	0	0	0	0	0	1	11953	912	32	2		2	PITRM1	10	3180298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2354	3180298	132354449	5489	10597										
PITRM1	10531	hgsc.bcm.edu	37	chr10	3180316	3180316	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttcccagtgccgaggtaTctgagaggaaggcaggcgtg	15	10	2	1	rs11414|rs397705014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:3180316T>C	ENST00000224949.4	-	27	3055	c.3021A>G	c.(3019-3021)agA>agG	p.R1007R	PITRM1_ENST00000380994.1_Splice_Site_p.R565R|PITRM1_ENST00000451104.2_Splice_Site_p.R909R|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Splice_Site_p.R1008R			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1007					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R1008R(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCCGAGGTATCTGAGAGGAA	0.612													C|||	3054	0.609824	0.677	0.621	5008	,	,		17615	0.5327		0.6292	False		,,,				2504	0.5706				p.R1008R		Atlas-SNP	.											PITRM1,NS,carcinoma,0,1	PITRM1	109	1	1	Substitution - coding silent(1)	stomach(1)	c.A3024G						PASS	.	C	,,	2938,1330		1054,830,250	44	48	47		3024,2727,3021	2.9	1	10	dbSNP_52	47	4997,3501		1488,2021,740	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	2542,2851,990	CC,CT,TT		41.1979,31.1621,37.8427	,,	1008/1039,909/940,1007/1038	3180316	7935,4831	2134	4249	6383	SO:0001630	splice_region_variant	10531	exon27			GAGGTATCTGAGA	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3021-1A>G	10.37:g.3180316T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_001242307	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																			T|0.393;G|0.000;C|0.607	0.607	strong		0.612	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		Silent	C	3180316	T	C	3180316	5	2	22	1	0	0	0	0	0	0	1	0	11953	1449	50	2	96	2	PITRM1	10	3180316	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18	3180316	132354431	5490	10598										
PITRM1	10531	hgsc.bcm.edu	37	chr10	3187831	3187831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctccgttcctttttactcCgaccgatgcttctaaggaag	8	13	1	0	rs34837384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:3187831C>T	ENST00000224949.4	-	21	2448	c.2414G>A	c.(2413-2415)cGg>cAg	p.R805Q	PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R363Q|PITRM1_ENST00000451104.2_Missense_Mutation_p.R707Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Missense_Mutation_p.R806Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	805			R -> Q (in dbSNP:rs34837384).		positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTTTTTACTCCGACCGATGCT	0.547													C|||	45	0.00898562	0.0325	0.0029	5008	,	,		17900	0.0		0.0	False		,,,				2504	0.0				p.R806Q		Atlas-SNP	.											.	PITRM1	109	.	0			c.G2417A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	145,3603		5,135,1734	51	52	52		2417,2120,2414	3.4	0	10	dbSNP_126	52	1,7975		0,1,3987	yes	missense,missense,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	43,43,43	5,136,5721	TT,TC,CC		0.0125,3.8687,1.2453	benign,benign,benign	806/1039,707/940,805/1038	3187831	146,11578	1874	3988	5862	SO:0001583	missense	10531	exon21			TTACTCCGACCGA	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2414G>A	10.37:g.3187831C>T	ENSP00000224949:p.Arg805Gln	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_001242307	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	c	13.97	2.394997	0.42512	0.038687	1.25E-4	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000424714	T;T;T;T;T	0.54866	1.57;1.57;1.57;1.57;0.55	5.29	3.43	0.39272	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.301189	0.35495	N	0.003174	T	0.14570	0.0352	L	0.46947	1.48	0.09310	N	1	B;B;B;B;B	0.24043	0.017;0.045;0.056;0.056;0.096	B;B;B;B;B	0.26969	0.005;0.046;0.075;0.075;0.075	T	0.08126	-1.0737	10	0.17369	T	0.5	-8.921	12.181	0.54211	0.0:0.8592:0.0:0.1408	rs34837384	798;707;806;805;798	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	Q	805;798;806;363;707;24	ENSP00000224949:R805Q;ENSP00000370377:R806Q;ENSP00000370382:R363Q;ENSP00000401201:R707Q;ENSP00000402072:R24Q	ENSP00000224949:R805Q	R	-	2	0	PITRM1	3177831	0.021000	0.18746	0.004000	0.12327	0.004000	0.04260	1.792000	0.38754	0.725000	0.32318	0.462000	0.41574	CGG	C|0.992;T|0.008	0.008	strong		0.547	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3187831	C	T	3187831	3	4	22	1	0	0	0	0	1	0	0	0	11953	652	23	1	727	1	PITRM1	10	3187831	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7515	3187831	132346916	5491	10599										
PITRM1	10531	hgsc.bcm.edu	37	chr10	3214939	3214939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcctcagcacacacaggCcctgccgcccgccgcagcgc	11	22	1	0	rs199766052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:3214939C>A	ENST00000224949.4	-	1	60	c.26G>T	c.(25-27)gGc>gTc	p.G9V	PITRM1_ENST00000451104.2_Silent_p.G11G|PITRM1_ENST00000380989.2_Missense_Mutation_p.G9V			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	9					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CACACACAGGCCCTGCCGCCC	0.751													C|||	58	0.0115815	0.0416	0.0029	5008	,	,		8716	0.0		0.0	False		,,,				2504	0.001				p.G9V		Atlas-SNP	.											.	PITRM1	109	.	0			c.G26T						PASS	.	C	VAL/GLY,,VAL/GLY	125,3595		1,123,1736	4	7	6		26,33,26	-4.6	0	10		6	3,7519		0,3,3758	no	missense,coding-synonymous,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	109,,109	1,126,5494	AA,AC,CC		0.0399,3.3602,1.1386	benign,,benign	9/1039,11/940,9/1038	3214939	128,11114	1860	3761	5621	SO:0001583	missense	10531	exon1			CACAGGCCCTGCC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.26G>T	10.37:g.3214939C>A	ENSP00000224949:p.Gly9Val	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530296	0.27387	0.033602	3.99E-4	ENSG00000107959	ENST00000224949;ENST00000380989	T;T	0.03920	3.76;3.76	3.31	-4.59	0.03400	.	2.102200	0.01907	N	0.039579	T	0.01092	0.0036	.	.	.	0.09310	N	0.999998	B;B	0.18968	0.032;0.019	B;B	0.19391	0.025;0.011	T	0.42699	-0.9436	9	0.30078	T	0.28	.	7.0117	0.24865	0.2341:0.5702:0.1957:0.0	.	9;9	Q5JRX3-2;Q5JRX3	.;PREP_HUMAN	V	9	ENSP00000224949:G9V;ENSP00000370377:G9V	ENSP00000224949:G9V	G	-	2	0	PITRM1	3204939	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.576000	0.05974	0.313000	0.20887	GGC	.	.	weak		0.751	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			A	3214939	C	A	3214939	3	1	22	1	0	0	0	0	1	0	0	0	11953	739	26	4	3195	4	PITRM1	10	3214939	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27108	3214939	132319808	5492	10600										
AKR1C2	1646	hgsc.bcm.edu	37	chr10	5043749	5043749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcttcacactgccatctGcaatcttgcttcggatggcc	7	15	4	0	rs147648222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5043749G>A	ENST00000380753.4	-	2	396	c.209C>T	c.(208-210)gCa>gTa	p.A70V	AKR1C2_ENST00000407674.1_Missense_Mutation_p.A70V|AKR1C2_ENST00000455190.1_Missense_Mutation_p.A70V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A70V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	70					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	ACTGCCATCTGCAATCTTGCT	0.443													G|||	17	0.00339457	0.0121	0.0	5008	,	,		21154	0.0		0.001	False		,,,				2504	0.0				p.A70V		Atlas-SNP	.											.	AKR1C2	68	.	0			c.C209T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA	44,4362	48.2+/-83.0	1,42,2160	132	114	120		209,209,209	-1.2	0.9	10	dbSNP_134	120	0,8596		0,0,4298	no	missense,missense,missense	AKR1C2	NM_001135241.1,NM_001354.4,NM_205845.1	64,64,64	1,42,6458	AA,AG,GG		0.0,0.9986,0.3384	benign,benign,benign	70/140,70/324,70/324	5043749	44,12958	2203	4298	6501	SO:0001583	missense	1646	exon4			CCATCTGCAATCT	L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"Aldo-keto reductases"	385	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"	600450	"aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)", "testicular 17,20-desmolase deficiency"	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.209C>T	10.37:g.5043749G>A	ENSP00000370129:p.Ala70Val	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	328	172	0.52439	NM_001354	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	ENST00000380753.4	37	CCDS7062.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	8.905	0.957221	0.18507	0.009986	0.0	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	2.35	-1.18	0.09617	NADP-dependent oxidoreductase domain (3);	0.225703	0.28730	N	0.014335	T	0.33177	0.0854	M	0.65498	2.005	0.20821	N	0.999846	B;B;B	0.30526	0.283;0.128;0.063	B;B;B	0.30646	0.118;0.071;0.057	T	0.36744	-0.9735	10	0.62326	D	0.03	.	9.2164	0.37351	0.0:0.0:0.4586:0.5414	.	70;70;70	B4DKR9;B4DK69;P52895	.;.;AK1C2_HUMAN	V	70	ENSP00000370129:A70V;ENSP00000392694:A70V;ENSP00000385221:A70V;ENSP00000408440:A70V	ENSP00000370129:A70V	A	-	2	0	AKR1C2	5033749	0.876000	0.30132	0.896000	0.35187	0.326000	0.28443	3.023000	0.49666	-0.272000	0.09259	0.205000	0.17691	GCA	G|0.998;A|0.002	0.002	strong		0.443	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		A	5043749	G	A	5043749	3	1	22	1	0	0	0	0	1	0	0	0	470	1319	46	2	849	2	AKR1C2	10	5043749	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1828810	5043749	130490998	5493	10601										
AKR1C3	8644	hgsc.bcm.edu	37	chr10	5138607	5138607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttgctcctccaggttccGagaagtaaagctttggaggt	13	8	0	1	rs7741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5138607G>A	ENST00000380554.3	+	2	742	c.90G>A	c.(88-90)ccG>ccA	p.P30P	AKR1C3_ENST00000439082.2_5'UTR|U8_ENST00000459536.1_RNA|AKR1C3_ENST00000605149.1_Silent_p.P7P|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	30					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	TCCAGGTTCCGAGAAGTAAAG	0.438													G|||	1083	0.216254	0.3381	0.196	5008	,	,		20326	0.0		0.3648	False		,,,				2504	0.136				p.P30P		Atlas-SNP	.											.	AKR1C3	21	.	0			c.G90A						PASS	.	G		1485,2921	475.7+/-357.4	246,993,964	72	68	69		90	-3.2	0	10	dbSNP_52	69	3041,5557	468.9+/-367.4	544,1953,1802	no	coding-synonymous	AKR1C3	NM_003739.4		790,2946,2766	AA,AG,GG		35.3687,33.704,34.8047		30/324	5138607	4526,8478	2203	4299	6502	SO:0001819	synonymous_variant	8644	exon2			GGTTCCGAGAAGT	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.90G>A	10.37:g.5138607G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	173	73	0.421965	NM_001253908	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	CCDS7063.1																																																																																			G|0.710;A|0.290	0.290	strong		0.438	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		A	5138607	G	A	5138607	2	1	22	1	0	0	0	0	0	0	0	1	471	1045	37	1		1	AKR1C3	10	5138607	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94858	5138607	130396140	5494	10602										
UCN3	114131	hgsc.bcm.edu	37	chr10	5416027	5416027	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacacggccaagagtcCccaccgcaccaagttcaccc	8	19	1	1	rs201708420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5416027C>G	ENST00000380433.3	+	2	572	c.344C>G	c.(343-345)cCc>cGc	p.P115R		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	115					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						GCCAAGAGTCCCCACCGCACC	0.642													.|||	4	0.000798722	0.003	0.0	5008	,	,		10358	0.0		0.0	False		,,,				2504	0.0				p.P115R		Atlas-SNP	.											.	UCN3	13	.	0			c.C344G						PASS	.	C	ARG/PRO	4,4402	8.1+/-20.4	0,4,2199	74	76	76		344	1.7	0	10		76	0,8600		0,0,4300	yes	missense	UCN3	NM_053049.2	103	0,4,6499	GG,GC,CC		0.0,0.0908,0.0308	possibly-damaging	115/162	5416027	4,13002	2203	4300	6503	SO:0001583	missense	114131	exon2			AGAGTCCCCACCG	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.344C>G	10.37:g.5416027C>G	ENSP00000369798:p.Pro115Arg	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	57	25	0.438596	NM_053049	Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	C	6.795	0.515627	0.12944	9.08E-4	0.0	ENSG00000178473	ENST00000380433	T	0.30182	1.54	5.49	1.67	0.24075	.	0.332477	0.29884	N	0.010946	T	0.18045	0.0433	N	0.22421	0.69	0.23144	N	0.998221	B	0.23490	0.086	B	0.21360	0.034	T	0.16630	-1.0396	10	0.59425	D	0.04	-11.4379	7.1327	0.25510	0.6324:0.291:0.0767:0.0	.	115	Q969E3	UCN3_HUMAN	R	115	ENSP00000369798:P115R	ENSP00000369798:P115R	P	+	2	0	UCN3	5406027	1.000000	0.71417	0.003000	0.11579	0.007000	0.05969	3.203000	0.51075	0.390000	0.25115	-0.500000	0.04577	CCC	.	.	weak		0.642	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		G	5416027	C	G	5416027	3	3	22	1	0	0	0	0	1	0	0	0	16926	623	22	4	346	4	UCN3	10	5416027	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	277420	5416027	130118720	5495	10603										
NET1	10276	hgsc.bcm.edu	37	chr10	5498102	5498102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttctgactcggcccgtcaCacggaacgaacggcactctt	11	14	3	1	rs34658946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5498102C>T	ENST00000355029.4	+	11	1392	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	NET1_ENST00000380359.3_Missense_Mutation_p.T363I|NET1_ENST00000542715.1_Missense_Mutation_p.T236I|NET1_ENST00000484741.1_3'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	417	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		T -> I (in dbSNP:rs34658946).		apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CGGCCCGTCACACGGAACGAA	0.473													C|||	76	0.0151757	0.056	0.0029	5008	,	,		18225	0.0		0.0	False		,,,				2504	0.0				p.T417I		Atlas-SNP	.											.	NET1	82	.	0			c.C1250T						PASS	.	C	ILE/THR,ILE/THR	177,4229	115.4+/-153.4	4,169,2030	88	90	89		1250,1088	4.7	1	10	dbSNP_126	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	NET1	NM_001047160.1,NM_005863.3	89,89	4,170,6329	TT,TC,CC		0.0116,4.0172,1.3686	benign,benign	417/597,363/543	5498102	178,12828	2203	4300	6503	SO:0001583	missense	10276	exon11			CCGTCACACGGAA	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1250C>T	10.37:g.5498102C>T	ENSP00000347134:p.Thr417Ile	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	20	0.363636	NM_001047160	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	C	15.93	2.978394	0.53720	0.040172	1.16E-4	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.31510	1.49;1.49;1.49	5.78	4.69	0.59074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43110	D	0.000603	T	0.06050	0.0157	L	0.49350	1.555	0.58432	D	0.999994	B;B	0.23490	0.048;0.086	B;B	0.34138	0.153;0.176	T	0.02491	-1.1151	10	0.48119	T	0.1	-20.9971	10.7957	0.46459	0.0:0.8395:0.0:0.1605	rs34658946	363;417	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	I	417;236;363	ENSP00000347134:T417I;ENSP00000446452:T236I;ENSP00000369717:T363I	ENSP00000347134:T417I	T	+	2	0	NET1	5488102	0.967000	0.33354	0.997000	0.53966	0.951000	0.60555	2.640000	0.46579	2.735000	0.93741	0.557000	0.71058	ACA	C|0.984;T|0.016	0.016	strong		0.473	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		T	5498102	C	T	5498102	3	4	22	1	0	0	0	0	1	0	0	0	10338	478	17	2	1389	2	NET1	10	5498102	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	82075	5498102	130036645	5496	10604										
CALML3	810	hgsc.bcm.edu	37	chr10	5567366	5567366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgtcagcgccgccgagctGcgacacgtcatgacccggct	12	16	2	1	rs1142825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5567366G>A	ENST00000315238.1	+	1	443	c.318G>A	c.(316-318)ctG>ctA	p.L106L	CALML3-AS1_ENST00000543008.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	106	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CCGCCGAGCTGCGACACGTCA	0.647													G|||	2095	0.418331	0.5076	0.3156	5008	,	,		15693	0.6091		0.2455	False		,,,				2504	0.3517				p.L106L	Colon(173;2070 2647 27580 52203)	Atlas-SNP	.											.	CALML3	12	.	0			c.G318A						PASS	.	G		2067,2339	564.2+/-381.4	482,1103,618	76	58	64		318	1.8	1	10	dbSNP_86	64	2114,6486	359.3+/-331.5	259,1596,2445	no	coding-synonymous	CALML3	NM_005185.2		741,2699,3063	AA,AG,GG		24.5814,46.9133,32.1467		106/150	5567366	4181,8825	2203	4300	6503	SO:0001819	synonymous_variant	810	exon1			CGAGCTGCGACAC	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.318G>A	10.37:g.5567366G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_005185	B2R9V6|Q5SQI4	Silent	SNP	ENST00000315238.1	37	CCDS7069.1																																																																																			G|0.641;A|0.359	0.359	strong		0.647	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		A	5567366	G	A	5567366	2	1	22	1	0	0	0	0	0	0	0	1	2587	1306	46	2		2	CALML3	10	5567366	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69264	5567366	129967381	5497	10605										
ANKRD16	54522	hgsc.bcm.edu	37	chr10	5920244	5920244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgacctgcacaggccagaTgcagggctgaggggtgacaa	16	10	0	4	rs61729846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5920244T>C	ENST00000380094.5	-	7	1478	c.935A>G	c.(934-936)cAt>cGt	p.H312R	ANKRD16_ENST00000191063.8_Missense_Mutation_p.I286V|ANKRD16_ENST00000380092.4_Missense_Mutation_p.H312R	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	312										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						ACAGGCCAGATGCAGGGCTGA	0.502													T|||	310	0.061901	0.2247	0.0173	5008	,	,		19150	0.0		0.001	False		,,,				2504	0.0				p.H312R		Atlas-SNP	.											.	ANKRD16	32	.	0			c.A935G						PASS	.	T	ARG/HIS,VAL/ILE,ARG/HIS	885,3521	343.8+/-307.8	98,689,1416	67	66	66		935,856,935	5	1	10	dbSNP_129	66	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	ANKRD16	NM_001009941.2,NM_001009943.2,NM_019046.2	29,29,29	98,694,5711	CC,CT,TT		0.0581,20.0862,6.843	probably-damaging,probably-damaging,probably-damaging	312/362,286/305,312/362	5920244	890,12116	2203	4300	6503	SO:0001583	missense	54522	exon7			GCCAGATGCAGGG	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.935A>G	10.37:g.5920244T>C	ENSP00000369436:p.His312Arg	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	47	30	0.638298	NM_001009941	A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	102|102	0.046703296703296704|0.046703296703296704	96|96	0.1951219512195122|0.1951219512195122	6|6	0.016574585635359115|0.016574585635359115	0|0	0.0|0.0	0|0	0.0|0.0	T|T	12.88|12.88	2.071823|2.071823	0.36566|0.36566	0.200862|0.200862	5.81E-4|5.81E-4	ENSG00000134461|ENSG00000134461	ENST00000380094;ENST00000380092|ENST00000191063	T;T|T	0.71461|0.58797	-0.57;-0.57|0.31	4.97|4.97	4.97|4.97	0.65823|0.65823	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.00144|0.00144	0.0004|0.0004	M|M	0.85099|0.85099	2.735|2.735	0.35597|0.35597	P|P	0.192465|0.192465	D|B	0.89917|0.19073	1.0|0.033	D|B	0.91635|0.21917	0.999|0.037	T|T	0.20672|0.20672	-1.0268|-1.0268	9|8	0.51188|0.62326	T|D	0.08|0.03	-15.6176|-15.6176	13.4896|13.4896	0.61386|0.61386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	312|286	Q6P6B7|F8WEI4	ANR16_HUMAN|.	R|V	312|286	ENSP00000369436:H312R;ENSP00000369434:H312R|ENSP00000352361:I286V	ENSP00000369434:H312R|ENSP00000352361:I286V	H|I	-|-	2|1	0|0	ANKRD16|ANKRD16	5960250|5960250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	6.409000|6.409000	0.73289|0.73289	1.858000|1.858000	0.53909|0.53909	0.254000|0.254000	0.18369|0.18369	CAT|ATC	T|0.928;C|0.072	0.072	strong		0.502	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		C	5920244	T	C	5920244	3	2	22	1	0	0	0	0	1	0	0	0	645	1464	51	2	154	2	ANKRD16	10	5920244	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	352878	5920244	129614503	5498	10606										
FBXO18	84893	hgsc.bcm.edu	37	chr10	5979117	5979117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctacctctgccactcctgTgcggagcagcgcatcgggcc	13	16	1	0	rs2274033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:5979117T>C	ENST00000362091.4	+	21	3121	c.3006T>C	c.(3004-3006)tgT>tgC	p.C1002C	RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000379999.5_Silent_p.C1053C|FBXO18_ENST00000397269.3_Silent_p.C506C	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1002					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCACTCCTGTGCGGAGCAGC	0.597													C|||	360	0.071885	0.0333	0.0389	5008	,	,		17143	0.1558		0.0358	False		,,,				2504	0.0982				p.C1053C		Atlas-SNP	.											.	FBXO18	108	.	0			c.T3159C						PASS	.	C	,	157,4249		0,157,2046	37	43	41		3159,3006	-5.3	0	10	dbSNP_100	41	291,8309		1,289,4010	no	coding-synonymous,coding-synonymous	FBXO18	NM_032807.3,NM_178150.1	,	1,446,6056	CC,CT,TT		3.3837,3.5633,3.4446	,	1053/1095,1002/1044	5979117	448,12558	2203	4300	6503	SO:0001819	synonymous_variant	84893	exon22			CTCCTGTGCGGAG	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3006T>C	10.37:g.5979117T>C		Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	213	106	0.497653	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																			T|0.958;C|0.042	0.042	strong		0.597	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		C	5979117	T	C	5979117	2	2	22	1	0	0	0	0	0	0	0	1	5731	1702	59	2		2	FBXO18	10	5979117	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58873	5979117	129555630	5499	10607										
ITIH5	80760	hgsc.bcm.edu	37	chr10	7605067	7605067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctccctggacattcccCggccaagtgtccatccctgt	9	16	0	1	rs3824658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:7605067C>T	ENST00000446830.2	-	15	2909	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q	ITIH5_ENST00000298441.6_Silent_p.P722P|ITIH5_ENST00000256861.6_Silent_p.P936P|ITIH5_ENST00000397146.2_Intron			Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	936					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGACATTCCCCGGCCAAGTGT	0.542													C|||	2863	0.571685	0.407	0.6225	5008	,	,		19488	0.5179		0.7694	False		,,,				2504	0.6104				p.R936Q		Atlas-SNP	.											.	ITIH5	343	.	0			c.G2807A						PASS	.	C	GLN/ARG,GLN/ARG	2047,2359	564.0+/-381.3	455,1137,611	185	178	180		2808,2166	-6.9	0	10	dbSNP_107	180	6597,2003	721.9+/-406.4	2523,1551,226	no	missense,missense	ITIH5	NM_030569.6,NM_032817.5	43,43	2978,2688,837	TT,TC,CC		23.2907,46.4594,33.5384	,	936/943,722/729	7605067	8644,4362	2203	4300	6503	SO:0001583	missense	80760	exon15			ATTCCCCGGCCAA			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000446830.2:c.2150G>A	10.37:g.7605067C>T	ENSP00000387969:p.Arg717Gln	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	192	98	0.510417	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000446830.2	37		1294	0.5924908424908425	205	0.4166666666666667	244	0.6740331491712708	259	0.4527972027972028	586	0.7730870712401056	C	10.17	1.276540	0.23307	0.464594	0.767093	ENSG00000123243	ENST00000446830	T	0.01787	4.64	4.72	-6.94	0.01633	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.14924	-1.0455	5	0.20046	T	0.44	-0.6082	2.0444	0.03557	0.1645:0.3936:0.2346:0.2073	rs3824658;rs59732486;rs3824658	.	.	.	Q	717	ENSP00000387969:R717Q	ENSP00000387969:R717Q	R	-	2	0	ITIH5	7645073	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.061000	0.03472	-1.075000	0.03129	-1.036000	0.02392	CGG	C|0.373;T|0.627	0.627	strong		0.542	ITIH5-203	KNOWN	basic	protein_coding	protein_coding		NM_030569		T	7605067	C	T	7605067	3	4	22	1	0	0	0	0	1	0	0	0	7907	639	23	1	66	1	ITIH5	10	7605067	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1625950	7605067	127929680	5500	10608										
ITIH5	80760	hgsc.bcm.edu	37	chr10	7628027	7628027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaattgtgaagagggcatcCttggtctaggcaaacacaaa	11	7	1	3	rs11255206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:7628027C>T	ENST00000256861.6	-	8	1023	c.945G>A	c.(943-945)aaG>aaA	p.K315K	ITIH5_ENST00000298441.6_Silent_p.K101K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.K315K|ITIH5_ENST00000446830.2_Silent_p.K97K|ITIH5_ENST00000397145.2_Silent_p.K315K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	315	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGAGGGCATCCTTGGTCTAGG	0.493													C|||	98	0.0195687	0.0643	0.0043	5008	,	,		17370	0.0069		0.002	False		,,,				2504	0.001				p.K315K		Atlas-SNP	.											.	ITIH5	343	.	0			c.G945A						PASS	.	C	,,	215,4191	126.6+/-163.6	5,205,1993	94	84	87		945,945,303	-0.6	1	10	dbSNP_120	87	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	,,	5,209,6289	TT,TC,CC		0.0465,4.8797,1.6838	,,	315/703,315/943,101/729	7628027	219,12787	2203	4300	6503	SO:0001819	synonymous_variant	80760	exon8			GGCATCCTTGGTC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.945G>A	10.37:g.7628027C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_001001851	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																				C|0.983;T|0.017	0.017	strong		0.493	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7628027	C	T	7628027	2	4	22	1	0	0	0	0	0	0	0	1	7907	680	24	2		2	ITIH5	10	7628027	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22960	7628027	127906720	5501	10609										
ITIH2	3698	hgsc.bcm.edu	37	chr10	7759595	7759595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttcacctttaggagcagCgctcttgatatggaaaactt	9	9	2	1	rs7072478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:7759595C>T	ENST00000358415.4	+	6	640	c.474C>T	c.(472-474)agC>agT	p.S158S	ITIH2_ENST00000379587.4_Silent_p.S147S|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	158	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S158S(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTAGGAGCAGCGCTCTTGATA	0.488													C|||	1037	0.207069	0.2201	0.2781	5008	,	,		21172	0.2202		0.172	False		,,,				2504	0.1616				p.S158S		Atlas-SNP	.											ITIH2,NS,carcinoma,0,1	ITIH2	144	1	1	Substitution - coding silent(1)	stomach(1)	c.C474T						PASS	.	C		994,3412	370.3+/-319.5	113,768,1322	163	174	171		474	-8.4	0	10	dbSNP_116	171	1200,7400	243.3+/-273.0	84,1032,3184	no	coding-synonymous	ITIH2	NM_002216.2		197,1800,4506	TT,TC,CC		13.9535,22.5601,16.8691		158/947	7759595	2194,10812	2203	4300	6503	SO:0001819	synonymous_variant	3698	exon6			GAGCAGCGCTCTT	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.474C>T	10.37:g.7759595C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																			C|0.819;T|0.181	0.181	strong		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7759595	C	T	7759595	2	4	22	1	0	0	0	0	0	0	0	1	7904	767	27	1		1	ITIH2	10	7759595	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	131568	7759595	127775152	5502	10610										
GATA3	2625	hgsc.bcm.edu	37	chr10	8100632	8100632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagtcgtcccactcccgTggcagcatgaccgccctggg	13	16	0	1	rs2228254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:8100632T>C	ENST00000346208.3	+	3	1061	c.606T>C	c.(604-606)cgT>cgC	p.R202R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.R202R			P23771	GATA3_HUMAN	GATA binding protein 3	202					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCACTCCCGTGGCAGCATGA	0.687			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						T|||	189	0.0377396	0.1392	0.0058	5008	,	,		14132	0.0		0.001	False		,,,				2504	0.0				p.R202R		Atlas-SNP	.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3	182	.	0			c.T606C						PASS	.	T	,	504,3902	227.8+/-242.9	31,442,1730	85	77	80		606,606	-11.1	0.4	10	dbSNP_98	80	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous	GATA3	NM_001002295.1,NM_002051.2	,	31,444,6027	CC,CT,TT		0.0233,11.4389,3.8911	,	202/445,202/444	8100632	506,12498	2203	4299	6502	SO:0001819	synonymous_variant	2625	exon3			CTCCCGTGGCAGC	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.606T>C	10.37:g.8100632T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	27	0.586957	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																			T|0.959;C|0.041	0.041	strong		0.687	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		C	8100632	T	C	8100632	2	2	22	1	0	0	0	0	0	0	0	1	6255	1683	59	2		2	GATA3	10	8100632	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	341037	8100632	127434115	5503	10611										
CELF2	10659	hgsc.bcm.edu	37	chr10	11356160	11356160	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaactccttgacctctctCgggactctgcaaggactggc	10	13	2	2	rs2246449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:11356160C>T	ENST00000379261.4	+	10	1106	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	CELF2_ENST00000450189.1_Silent_p.L345L|CELF2_ENST00000609692.1_Silent_p.L314L|CELF2_ENST00000354440.2_Silent_p.L314L|CELF2_ENST00000537122.1_Silent_p.L227L|CELF2_ENST00000417956.2_Silent_p.L314L|CELF2_ENST00000354897.3_Silent_p.L314L|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000399850.3_Silent_p.L314L|CELF2_ENST00000315874.4_Silent_p.L314L|CELF2_ENST00000542579.1_Silent_p.L345L|CELF2_ENST00000416382.2_Silent_p.L338L|CELF2_ENST00000427450.1_Silent_p.L314L|CELF2_ENST00000608830.1_Silent_p.L314L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	338	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGACCTCTCTCGGGACTCTGC	0.507													T|||	2259	0.451078	0.6377	0.2594	5008	,	,		19547	0.4871		0.2684	False		,,,				2504	0.4857				p.L345L		Atlas-SNP	.											.	CELF2	78	.	0			c.C1035T						PASS	.	T	,,,	2154,1694		611,932,381	101	99	100		942,1014,942,1035	-10.4	0.5	10	dbSNP_100	100	2162,6106		300,1562,2272	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CELF2	NM_001025076.2,NM_001025077.2,NM_001083591.1,NM_006561.3	,,,	911,2494,2653	TT,TC,CC		26.149,44.0229,35.6223	,,,	314/491,338/509,314/489,345/522	11356160	4316,7800	1924	4134	6058	SO:0001819	synonymous_variant	10659	exon10			CTCTCTCGGGACT	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1014C>T	10.37:g.11356160C>T		Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	175	94	0.537143	NM_006561	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	CCDS44354.1																																																																																			C|0.603;T|0.397	0.397	strong		0.507	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	11356160	C	T	11356160	2	4	22	1	0	0	0	0	0	0	0	1	3216	871	31	1		1	CELF2	10	11356160	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3255528	11356160	124178587	5504	10612										
USP6NL	9712	hgsc.bcm.edu	37	chr10	11505175	11505175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcgtgctttctcgggctAggagggtaaagggcatgccg	16	9	2	0	rs3740204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:11505175A>G	ENST00000609104.1	-	15	2146	c.1752T>C	c.(1750-1752)ccT>ccC	p.P584P	USP6NL_ENST00000277575.5_Silent_p.P601P|USP6NL_ENST00000379237.2_Silent_p.P607P	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	584					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCTCGGGCTAGGAGGGTAAA	0.567													G|||	2501	0.499401	0.5772	0.2997	5008	,	,		18328	0.7351		0.3042	False		,,,				2504	0.4939				p.P601P		Atlas-SNP	.											.	USP6NL	57	.	0			c.T1803C						PASS	.	G	,	2008,1898		504,1000,449	47	49	48		1803,1752	-1.2	0	10	dbSNP_107	48	2613,5693		402,1809,1942	no	coding-synonymous,coding-synonymous	USP6NL	NM_001080491.2,NM_014688.2	,	906,2809,2391	GG,GA,AA		31.4592,48.5919,37.8398	,	601/846,584/829	11505175	4621,7591	1953	4153	6106	SO:0001819	synonymous_variant	9712	exon14			CGGGCTAGGAGGG	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1752T>C	10.37:g.11505175A>G		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_001080491	A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	CCDS53492.1																																																																																			A|0.502;G|0.498	0.498	strong		0.567	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		G	11505175	A	G	11505175	2	3	22	1	0	0	0	0	0	0	0	1	17084	407	15	3		3	USP6NL	10	11505175	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	149015	11505175	124029572	5505	10613										
ECHDC3	79746	hgsc.bcm.edu	37	chr10	11797484	11797484	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcggctgccggctgtcaActggttgccagctgcgacat	14	14	1	0	rs34878615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:11797484A>G	ENST00000379215.4	+	4	679	c.468A>G	c.(466-468)caA>caG	p.Q156Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	156						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCGGCTGTCAACTGGTTGCCA	0.607													A|||	94	0.01877	0.0681	0.0043	5008	,	,		13971	0.0		0.001	False		,,,				2504	0.0				p.Q156Q		Atlas-SNP	.											.	ECHDC3	12	.	0			c.A468G						PASS	.	A		251,4155	144.6+/-179.5	10,231,1962	51	42	45		468	3.4	1	10	dbSNP_126	45	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ECHDC3	NM_024693.4		10,235,6258	GG,GA,AA		0.0465,5.6968,1.9606		156/304	11797484	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	79746	exon4			CTGTCAACTGGTT	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.468A>G	10.37:g.11797484A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	100	53	0.53	NM_024693	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																			A|0.981;G|0.019	0.019	strong		0.607	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		G	11797484	A	G	11797484	2	3	22	1	0	0	0	0	0	0	0	1	4895	40	2	2		2	ECHDC3	10	11797484	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	292309	11797484	123737263	5506	10614										
ECHDC3	79746	hgsc.bcm.edu	37	chr10	11805249	11805249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggagatgctctttactggTgagcccatttctgcccagga	11	10	2	2	rs61739577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:11805249T>C	ENST00000379215.4	+	5	829	c.618T>C	c.(616-618)ggT>ggC	p.G206G	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	206						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						TCTTTACTGGTGAGCCCATTT	0.642													C|||	734	0.146565	0.1831	0.1556	5008	,	,		18562	0.0139		0.2256	False		,,,				2504	0.1462				p.G206G		Atlas-SNP	.											.	ECHDC3	12	.	0			c.T618C						PASS	.	C		834,3572	746.1+/-411.7	80,674,1449	75	60	65		618	2.6	1	10	dbSNP_129	65	2084,6516	716.1+/-406.1	280,1524,2496	no	coding-synonymous	ECHDC3	NM_024693.4		360,2198,3945	CC,CT,TT		24.2326,18.9287,22.4358		206/304	11805249	2918,10088	2203	4300	6503	SO:0001819	synonymous_variant	79746	exon5			TACTGGTGAGCCC	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.618T>C	10.37:g.11805249T>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	50	22	0.44	NM_024693	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																			T|0.807;C|0.193	0.193	strong		0.642	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		C	11805249	T	C	11805249	2	2	22	1	0	0	0	0	0	0	0	1	4895	1683	59	2		2	ECHDC3	10	11805249	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7765	11805249	123729498	5507	10615										
C10orf47	254427	hgsc.bcm.edu	37	chr10	11912381	11912381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaggccctgcggaagctGgggctgctcagggagagttc	19	9	1	1	rs191542752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:11912381G>A	ENST00000277570.5	+	4	1438	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	PROSER2_ENST00000379200.1_Silent_p.L232L|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	428																	TGCGGAAGCTGGGGCTGCTCA	0.726													G|||	45	0.00898562	0.031	0.0058	5008	,	,		11702	0.0		0.0	False		,,,				2504	0.0				p.L428L		Atlas-SNP	.											.	.	.	.	0			c.G1284A						PASS	.	G		34,2126		0,34,1046	1	1	1		1284	-10.4	0.7	10		1	1,4447		0,1,2223	no	coding-synonymous	C10orf47	NM_153256.3		0,35,3269	AA,AG,GG		0.0225,1.5741,0.5297		428/436	11912381	35,6573	1080	2224	3304	SO:0001819	synonymous_variant	254427	exon4			GAAGCTGGGGCTG	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1284G>A	10.37:g.11912381G>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	19	10	0.526316	NM_153256	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	CCDS7085.1																																																																																			G|0.993;A|0.007	0.007	strong		0.726	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		A	11912381	G	A	11912381	2	1	22	1	0	0	0	0	0	0	0	1	1605	1335	47	2		2	C10orf47	10	11912381	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	107132	11912381	123622366	5508	10616										
UPF2	26019	hgsc.bcm.edu	37	chr10	12071397	12071397	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttcttcaaacttgagtcGaggcggctgaagaagttttc	10	7	2	3	rs11257490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:12071397G>A	ENST00000356352.2	-	2	965	c.492C>T	c.(490-492)ctC>ctT	p.L164L	UPF2_ENST00000357604.5_Silent_p.L164L|UPF2_ENST00000397053.2_Silent_p.L164L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	164					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AACTTGAGTCGAGGCGGCTGA	0.403													A|||	1311	0.261781	0.2814	0.2507	5008	,	,		16409	0.4435		0.161	False		,,,				2504	0.1595				p.L164L		Atlas-SNP	.											.	UPF2	111	.	0			c.C492T						PASS	.	A	,	1166,3240	703.9+/-407.1	145,876,1182	102	111	108		492,492	-3.3	1	10	dbSNP_120	108	1443,7157	746.8+/-407.3	132,1179,2989	no	coding-synonymous,coding-synonymous	UPF2	NM_015542.2,NM_080599.1	,	277,2055,4171	AA,AG,GG		16.7791,26.4639,20.06	,	164/1273,164/1273	12071397	2609,10397	2203	4300	6503	SO:0001819	synonymous_variant	26019	exon3			TGAGTCGAGGCGG	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.492C>T	10.37:g.12071397G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	113	113	1	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																			G|0.765;A|0.235	0.235	strong		0.403	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	12071397	G	A	12071397	2	1	22	1	0	0	0	0	0	0	0	1	17001	1045	37	1		1	UPF2	10	12071397	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159016	12071397	123463350	5509	10617										
DHTKD1	55526	hgsc.bcm.edu	37	chr10	12160868	12160868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagaggaactctgccccttCccgttggattctttacagca	9	12	2	1	rs12769375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:12160868C>T	ENST00000263035.4	+	15	2585	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	841					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCTGCCCCTTCCCGTTGGATT	0.448													C|||	48	0.00958466	0.0356	0.0014	5008	,	,		17605	0.0		0.0	False		,,,				2504	0.0				p.F841F		Atlas-SNP	.											.	DHTKD1	104	.	0			c.C2523T						PASS	.	C		153,4253	104.7+/-143.2	4,145,2054	146	143	144		2523	3.2	1	10	dbSNP_121	144	0,8600		0,0,4300	no	coding-synonymous	DHTKD1	NM_018706.5		4,145,6354	TT,TC,CC		0.0,3.4725,1.1764		841/920	12160868	153,12853	2203	4300	6503	SO:0001819	synonymous_variant	55526	exon15			CCCCTTCCCGTTG	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2523C>T	10.37:g.12160868C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1																																																																																			C|0.985;T|0.015	0.015	strong		0.448	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		T	12160868	C	T	12160868	2	4	22	1	0	0	0	0	0	0	0	1	4500	854	30	2		2	DHTKD1	10	12160868	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89471	12160868	123373879	5510	10618										
SEC61A2	55176	hgsc.bcm.edu	37	chr10	12200092	12200092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactttttagtaaatttactAggacagtgggccgtgagtat	10	5	0	1	rs61731911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:12200092A>G	ENST00000298428.9	+	9	1052	c.963A>G	c.(961-963)ctA>ctG	p.L321L	SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Silent_p.L299L|SEC61A2_ENST00000304267.8_Silent_p.L321L	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	321					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TAAATTTACTAGGACAGTGGG	0.373													A|||	91	0.0181709	0.0651	0.0072	5008	,	,		16175	0.0		0.0	False		,,,				2504	0.0				p.L321L		Atlas-SNP	.											.	SEC61A2	48	.	0			c.A963G						PASS	.	A	,,	258,4148	145.7+/-180.5	6,246,1951	83	77	79		963,897,963	-1.3	1	10	dbSNP_129	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SEC61A2	NM_001142627.1,NM_001142628.1,NM_018144.3	,,	6,246,6251	GG,GA,AA		0.0,5.8557,1.9837	,,	321/438,299/455,321/477	12200092	258,12748	2203	4300	6503	SO:0001819	synonymous_variant	55176	exon9			TTTACTAGGACAG	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.963A>G	10.37:g.12200092A>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	142	82	0.577465	NM_001142627	A8K8D0|B4DX72|F8W773	Silent	SNP	ENST00000298428.9	37	CCDS7088.1																																																																																			A|0.974;G|0.026	0.026	strong		0.373	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		G	12200092	A	G	12200092	2	3	22	1	0	0	0	0	0	0	0	1	14001	407	15	3		3	SEC61A2	10	12200092	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39224	12200092	123334655	5511	10619										
PHYH	5264	hgsc.bcm.edu	37	chr10	13330402	13330402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttcagggagcccttgtgTgtgcctgggagcacaaccag	15	11	1	0	rs473407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:13330402T>C	ENST00000263038.4	-	6	694	c.636A>G	c.(634-636)acA>acG	p.T212T	PHYH_ENST00000396913.2_Silent_p.T112T|PHYH_ENST00000396920.3_Silent_p.T195T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	212					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AGCCCTTGTGTGTGCCTGGGA	0.587													T|||	1197	0.239018	0.4312	0.1686	5008	,	,		16570	0.124		0.2286	False		,,,				2504	0.1585				p.T212T		Atlas-SNP	.											.	PHYH	50	.	0			c.A636G						PASS	.	T	,	1709,2697	509.9+/-367.4	339,1031,833	57	55	56		336,636	-5.6	0.3	10	dbSNP_83	56	2192,6408	372.2+/-336.6	278,1636,2386	no	coding-synonymous,coding-synonymous	PHYH	NM_001037537.1,NM_006214.3	,	617,2667,3219	CC,CT,TT		25.4884,38.788,29.9938	,	112/239,212/339	13330402	3901,9105	2203	4300	6503	SO:0001819	synonymous_variant	5264	exon6			CTTGTGTGTGCCT		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.636A>G	10.37:g.13330402T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_006214	A8MTS8|B1ALH5	Silent	SNP	ENST00000263038.4	37	CCDS7097.1																																																																																			T|0.728;C|0.272	0.272	strong		0.587	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			C	13330402	T	C	13330402	2	2	22	1	0	0	0	0	0	0	0	1	11864	1683	59	2		2	PHYH	10	13330402	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1130310	13330402	122204345	5512	10620										
PRPF18	8559	hgsc.bcm.edu	37	chr10	13658436	13658436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatggccattggaaatgcGccttggcccatcggtgtcac	12	12	1	1	rs11258476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:13658436G>A	ENST00000378572.3	+	9	991	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	277					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTGGAAATGCGCCTTGGCCCA	0.413													G|||	335	0.066893	0.1687	0.013	5008	,	,		21058	0.0407		0.0	False		,,,				2504	0.0634				p.A277A		Atlas-SNP	.											.	PRPF18	32	.	0			c.G831A						PASS	.	G		616,3790	267.1+/-267.6	48,520,1635	152	141	145		831	-6.8	1	10	dbSNP_120	145	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	PRPF18	NM_003675.3		48,528,5927	AA,AG,GG		0.093,13.9809,4.7978		277/343	13658436	624,12382	2203	4300	6503	SO:0001819	synonymous_variant	8559	exon9			AAATGCGCCTTGG	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.831G>A	10.37:g.13658436G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	33	0.44	NM_003675	Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	CCDS7100.1																																																																																			G|0.943;A|0.057	0.057	strong		0.413	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			A	13658436	G	A	13658436	2	1	22	1	0	0	0	0	0	0	0	1	12563	1074	38	1		1	PRPF18	10	13658436	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	328034	13658436	121876311	5513	10621										
CDNF	441549	hgsc.bcm.edu	37	chr10	14862140	14862140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccgcaggtcaactgatgCcaagtccagtgttttttcta	8	11	2	1	rs61740068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:14862140C>A	ENST00000378442.1	-	6	600	c.97G>T	c.(97-99)Gca>Tca	p.A33S	CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	135						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						TCAACTGATGCCAAGTCCAGT	0.418													C|||	76	0.0151757	0.0522	0.0072	5008	,	,		19434	0.0		0.0	False		,,,				2504	0.002				p.A135S		Atlas-SNP	.											.	CDNF	19	.	0			c.G403T						PASS	.	C	SER/ALA	205,4201	127.4+/-164.3	3,199,2001	96	98	97		403	5.9	1	10	dbSNP_129	97	0,8600		0,0,4300	yes	missense	CDNF	NM_001029954.2	99	3,199,6301	AA,AC,CC		0.0,4.6527,1.5762	benign	135/188	14862140	205,12801	2203	4300	6503	SO:0001583	missense	441549	exon4			CTGATGCCAAGTC	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"conserved dopamine neurotrophic factor"	611233	"arginine-rich, mutated in early stage tumors-like 1"	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.97G>T	10.37:g.14862140C>A	ENSP00000367703:p.Ala33Ser	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	128	60	0.46875	NM_001029954	A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37		27	0.012362637362637362	24	0.04878048780487805	3	0.008287292817679558	0	0.0	0	0.0	C	3.967	-0.009097	0.07727	0.046527	0.0	ENSG00000185267	ENST00000378442;ENST00000465530	.	.	.	5.9	5.9	0.94986	.	0.284770	0.36519	N	0.002549	T	0.03783	0.0107	N	0.04994	-0.135	0.34379	D	0.692882	B	0.22983	0.078	B	0.21360	0.034	T	0.09185	-1.0686	9	0.02654	T	1	-13.8964	13.0686	0.59048	0.0:0.9231:0.0:0.0769	.	135	Q49AH0	CDNF_HUMAN	S	33;135	.	ENSP00000367703:A33S	A	-	1	0	CDNF	14902146	1.000000	0.71417	0.997000	0.53966	0.555000	0.35460	3.795000	0.55499	2.806000	0.96561	0.655000	0.94253	GCA	C|0.985;A|0.015	0.015	strong		0.418	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954		A	14862140	C	A	14862140	3	1	22	1	0	0	0	0	1	0	0	0	3168	739	26	4	164	4	CDNF	10	14862140	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1203704	14862140	120672607	5514	10622										
SUV39H2	79723	hgsc.bcm.edu	37	chr10	14939067	14939067	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgaagaaggctaaacaaAggatagctctgcagagatgg	13	5	1	3	rs45473500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:14939067A>C	ENST00000354919.6	+	3	400	c.400A>C	c.(400-402)Agg>Cgg	p.R134R	SUV39H2_ENST00000313519.5_Silent_p.R74R|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	134					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGCTAAACAAAGGATAGCTCT	0.368													A|||	29	0.00579073	0.0	0.0086	5008	,	,		20305	0.0		0.0199	False		,,,				2504	0.0031				p.R134R		Atlas-SNP	.											.	SUV39H2	72	.	0			c.A400C						PASS	.	A	,,,,	21,4385	28.1+/-56.4	0,21,2182	71	67	69		400,220,,,220	5.9	1	10	dbSNP_127	69	141,8459	70.3+/-132.9	4,133,4163	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	SUV39H2	NM_001193424.1,NM_001193425.1,NM_001193426.1,NM_001193427.1,NM_024670.3	,,,,	4,154,6345	CC,CA,AA		1.6395,0.4766,1.2456	,,,,	134/411,74/351,,,74/351	14939067	162,12844	2203	4300	6503	SO:0001819	synonymous_variant	79723	exon3			AAACAAAGGATAG	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.400A>C	10.37:g.14939067A>C		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	23	0.534884	NM_001193424	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	CCDS53494.1																																																																																			A|0.990;C|0.010	0.010	strong		0.368	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		C	14939067	A	C	14939067	2	2	22	1	0	0	0	0	0	0	0	1	15410	63	3	5		5	SUV39H2	10	14939067	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76927	14939067	120595680	5515	10623										
C10orf111	221060	hgsc.bcm.edu	37	chr10	15138615	15138615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcgactccgatggtagcCtgagtctccattgcttggag	13	11	1	1	rs7896053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:15138615C>T	ENST00000378207.3	-	2	482	c.209G>A	c.(208-210)aGg>aAg	p.R70K	RPP38_ENST00000378197.4_5'Flank|RPP38_ENST00000378202.5_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	70			R -> K (in dbSNP:rs7896053).			integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						CGATGGTAGCCTGAGTCTCCA	0.502													T|||	1194	0.238419	0.6649	0.1182	5008	,	,		16927	0.0625		0.1113	False		,,,				2504	0.0593				p.R70K		Atlas-SNP	.											.	C10orf111	11	.	0			c.G209A						PASS	.	T	LYS/ARG	2472,1934	549.9+/-377.9	678,1116,409	141	138	139		209	-1.9	0	10	dbSNP_116	139	923,7677	776.9+/-407.7	51,821,3428	yes	missense	C10orf111	NM_153244.1	26	729,1937,3837	TT,TC,CC		10.7326,43.8947,26.1033	benign	70/156	15138615	3395,9611	2203	4300	6503	SO:0001583	missense	221060	exon2			GGTAGCCTGAGTC	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.209G>A	10.37:g.15138615C>T	ENSP00000367449:p.Arg70Lys	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	206	206	1	NM_153244	B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	CCDS7107.1	497	0.22756410256410256	327	0.6646341463414634	52	0.143646408839779	32	0.055944055944055944	86	0.11345646437994723	T	8.664	0.901234	0.17760	0.561053	0.107326	ENSG00000176236	ENST00000378207	T	0.53857	0.6	2.83	-1.94	0.07571	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41233	-0.9520	8	0.87932	D	0	.	4.5021	0.11869	0.1568:0.5125:0.0:0.3307	rs7896053;rs52818153;rs58141984;rs7896053	70	Q8N326	CJ111_HUMAN	K	70	ENSP00000367449:R70K	ENSP00000367449:R70K	R	-	2	0	C10orf111	15178621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.525000	0.00221	-0.731000	0.04862	-2.791000	0.00116	AGG	C|0.740;T|0.260	0.260	strong		0.502	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		T	15138615	C	T	15138615	3	4	22	1	0	0	0	0	1	0	0	0	1583	681	24	2	262	2	C10orf111	10	15138615	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199548	15138615	120396132	5516	10624										
RPP38	10557	hgsc.bcm.edu	37	chr10	15145855	15145855	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatgtgttctagccttggCgttcaaaaagaacaccactg	8	9	2	1	rs15772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:15145855C>G	ENST00000378197.4	+	3	1056	c.542C>G	c.(541-543)gCg>gGg	p.A181G	RPP38_ENST00000378202.5_Missense_Mutation_p.A181G|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	181			A -> G (in dbSNP:rs15772). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.4}.		RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTAGCCTTGGCGTTCAAAAAG	0.488													G|||	1813	0.362021	0.8699	0.2118	5008	,	,		19539	0.1131		0.2346	False		,,,				2504	0.1697				p.A181G	GBM(118;1591 1611 9649 34378 50720)	Atlas-SNP	.											.	RPP38	26	.	0			c.C542G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA	3327,1079	390.3+/-327.6	1253,821,129	67	67	67		542,542,542	5.7	1	10	dbSNP_52	67	2031,6569	720.8+/-406.3	239,1553,2508	yes	missense,missense,missense	RPP38	NM_001097590.1,NM_006414.3,NM_183005.3	60,60,60	1492,2374,2637	GG,GC,CC		23.6163,24.4893,41.1964	benign,benign,benign	181/284,181/284,181/284	15145855	5358,7648	2203	4300	6503	SO:0001583	missense	10557	exon2			CCTTGGCGTTCAA	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.542C>G	10.37:g.15145855C>G	ENSP00000367439:p.Ala181Gly	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_001265601	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	CCDS7108.1	760	0.34798534798534797	430	0.8739837398373984	89	0.24585635359116023	63	0.11013986013986014	178	0.23482849604221637	G	3.216	-0.160663	0.06502	0.755107	0.236163	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197	T;T;T	0.53206	0.63;0.63;0.63	5.68	5.68	0.88126	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00808	-1.17	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41822	-0.9487	9	0.02654	T	1	-20.1945	16.8756	0.86051	0.0:0.1285:0.8715:0.0	rs15772;rs1132102;rs3192597;rs52820525;rs58876686;rs15772	181	P78345	RPP38_HUMAN	G	181	ENSP00000367445:A181G;ENSP00000367444:A181G;ENSP00000367439:A181G	ENSP00000367439:A181G	A	+	2	0	RPP38	15185861	1.000000	0.71417	0.961000	0.40146	0.003000	0.03518	7.662000	0.83803	1.415000	0.47037	-0.187000	0.12897	GCG	C|0.612;G|0.388	0.388	strong		0.488	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		G	15145855	C	G	15145855	3	3	22	1	0	0	0	0	1	0	0	0	13613	768	27	4	544	4	RPP38	10	15145855	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7240	15145855	120388892	5517	10625										
RPP38	10557	hgsc.bcm.edu	37	chr10	15145917	15145917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcatccccagagtccccAgtttaagtgtaccatggctt	7	14	1	1	rs12249258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:15145917A>C	ENST00000378197.4	+	3	1118	c.604A>C	c.(604-606)Agt>Cgt	p.S202R	RPP38_ENST00000378202.5_Missense_Mutation_p.S202R|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	202			S -> R (in dbSNP:rs12249258).		RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CAGAGTCCCCAGTTTAAGTGT	0.463													A|||	241	0.048123	0.1725	0.013	5008	,	,		20068	0.0		0.004	False		,,,				2504	0.0				p.S202R	GBM(118;1591 1611 9649 34378 50720)	Atlas-SNP	.											.	RPP38	26	.	0			c.A604C						PASS	.	A	ARG/SER,ARG/SER,ARG/SER	543,3863	244.7+/-253.9	41,461,1701	68	69	69		604,604,604	-3	0	10	dbSNP_120	69	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense,missense	RPP38	NM_001097590.1,NM_006414.3,NM_183005.3	110,110,110	41,466,5996	CC,CA,AA		0.0581,12.3241,4.2134	benign,benign,benign	202/284,202/284,202/284	15145917	548,12458	2203	4300	6503	SO:0001583	missense	10557	exon2			GTCCCCAGTTTAA	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.604A>C	10.37:g.15145917A>C	ENSP00000367439:p.Ser202Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	87	44	0.505747	NM_001265601	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	CCDS7108.1	96	0.04395604395604396	86	0.17479674796747968	7	0.019337016574585635	0	0.0	3	0.00395778364116095	A	5.707	0.315044	0.10789	0.123241	5.81E-4	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197	T;T;T	0.10192	2.9;2.9;2.9	5.88	-2.97	0.05530	.	1.421770	0.04406	N	0.365158	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.43360	-0.9396	9	0.15952	T	0.53	-0.0859	5.4796	0.16717	0.2215:0.5329:0.1457:0.0999	rs12249258;rs52829912;rs57326558;rs12249258	202	P78345	RPP38_HUMAN	R	202	ENSP00000367445:S202R;ENSP00000367444:S202R;ENSP00000367439:S202R	ENSP00000367439:S202R	S	+	1	0	RPP38	15185923	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	-0.048000	0.11944	-0.396000	0.07703	0.482000	0.46254	AGT	A|0.946;C|0.054	0.054	strong		0.463	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		C	15145917	A	C	15145917	3	2	22	1	0	0	0	0	1	0	0	0	13613	188	7	5	606	5	RPP38	10	15145917	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	62	15145917	120388830	5518	10626										
NMT2	9397	hgsc.bcm.edu	37	chr10	15170387	15170387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcattgttctctgtaaagTcatatttctactcaagtgag	6	8	5	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:15170387T>C	ENST00000378165.4	-	8	1041	c.961A>G	c.(961-963)Act>Gct	p.T321A	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.T133A|NMT2_ENST00000535341.1_Missense_Mutation_p.T308A|NMT2_ENST00000378150.1_Missense_Mutation_p.T308A	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	321					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTCTGTAAAGTCATATTTCTA	0.328																																					p.T321A	Melanoma(117;1345 1645 4130 12688 30625)	Atlas-SNP	.											.	NMT2	44	.	0			c.A961G						PASS	.						85	88	87					10																	15170387		2202	4300	6502	SO:0001583	missense	9397	exon8			GTAAAGTCATATT	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.961A>G	10.37:g.15170387T>C	ENSP00000367407:p.Thr321Ala	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	149	6	0.0402685	NM_004808	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582566	0.86748	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.50813	0.73	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	H	0.95437	3.67	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	D;D;D	0.75020	0.985;0.985;0.985	D	0.85108	0.0961	10	0.87932	D	0	-19.6603	15.7488	0.77967	0.0:0.0:0.0:1.0	.	321;308;321	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	A	321;308;352;133;308	ENSP00000367407:T321A	ENSP00000367385:T352A	T	-	1	0	NMT2	15210393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.115000	0.64714	0.533000	0.62120	ACT	.	.	none		0.328	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		C	15170387	T	C	15170387	3	2	22	1	0	0	0	0	1	0	0	0	10504	1667	58	2	555	2	NMT2	10	15170387	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24470	15170387	120364360	5519	10627										
CUBN	8029	hgsc.bcm.edu	37	chr10	16918972	16918972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagttaagcagaaccggcccAgcgatggtgaggggagctgg	17	8	0	2	rs1801241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:16918972A>G	ENST00000377833.4	-	57	9095	c.9030T>C	c.(9028-9030)gcT>gcC	p.A3010A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3010	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A3010A(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACCGGCCCAGCGATGGTGA	0.488													G|||	1239	0.247404	0.354	0.2882	5008	,	,		17623	0.3065		0.0855	False		,,,				2504	0.18				p.A3010A		Atlas-SNP	.											CUBN,NS,carcinoma,0,1	CUBN	515	1	1	Substitution - coding silent(1)	stomach(1)	c.T9030C						PASS	.	G		1441,2965	682.7+/-404.2	242,957,1004	121	105	111		9030	-6.2	0	10	dbSNP_89	111	494,8106	797.5+/-407.4	16,462,3822	no	coding-synonymous	CUBN	NM_001081.3		258,1419,4826	GG,GA,AA		5.7442,32.7054,14.8777		3010/3624	16918972	1935,11071	2203	4300	6503	SO:0001819	synonymous_variant	8029	exon57			CGGCCCAGCGATG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9030T>C	10.37:g.16918972A>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	90	38	0.422222	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			A|0.814;G|0.186	0.186	strong		0.488	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16918972	A	G	16918972	2	3	22	1	0	0	0	0	0	0	0	1	4051	175	7	3		3	CUBN	10	16918972	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1748585	16918972	118615775	5520	10628										
CUBN	8029	hgsc.bcm.edu	37	chr10	16932490	16932490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcccacagccagtggctaGcagggctttgtccacctcct	10	15	0	0	rs1801238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:16932490G>T	ENST00000377833.4	-	55	8700	c.8635C>A	c.(8635-8637)Cta>Ata	p.L2879I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2879	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.		L -> I (in dbSNP:rs45474496). {ECO:0000269|PubMed:10080186}.		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGTGGCTAGCAGGGCTTTG	0.522													G|||	70	0.0139776	0.0023	0.0144	5008	,	,		14824	0.0		0.0398	False		,,,				2504	0.0174				p.L2879I		Atlas-SNP	.											.	CUBN	515	.	0			c.C8635A						PASS	.	G	ILE/LEU	23,4383	29.9+/-59.1	0,23,2180	112	102	106		8635	-0.4	0.9	10	dbSNP_127	106	322,8278	113.9+/-173.9	7,308,3985	yes	missense	CUBN	NM_001081.3	5	7,331,6165	TT,TG,GG		3.7442,0.522,2.6526	probably-damaging	2879/3624	16932490	345,12661	2203	4300	6503	SO:0001583	missense	8029	exon55			TGGCTAGCAGGGC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8635C>A	10.37:g.16932490G>T	ENSP00000367064:p.Leu2879Ile	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	24	0.0316622691292876	G	14.23	2.473839	0.43942	0.00522	0.037442	ENSG00000107611	ENST00000377833	T	0.19250	2.16	5.78	-0.444	0.12245	CUB (5);	0.000000	0.36703	N	0.002460	T	0.09555	0.0235	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00891	-1.1525	10	0.72032	D	0.01	.	6.8581	0.24052	0.4405:0.0:0.4375:0.1221	rs45474496;rs52835348	2879	O60494	CUBN_HUMAN	I	2879	ENSP00000367064:L2879I	ENSP00000367064:L2879I	L	-	1	2	CUBN	16972496	0.986000	0.35501	0.875000	0.34327	0.192000	0.23643	0.421000	0.21280	-0.028000	0.13850	0.655000	0.94253	CTA	G|0.977;T|0.023	0.023	strong		0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16932490	G	T	16932490	3	4	22	1	0	0	0	0	1	0	0	0	4051	962	34	4	2288	4	CUBN	10	16932490	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13518	16932490	118602257	5521	10629										
CUBN	8029	hgsc.bcm.edu	37	chr10	16979661	16979661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagaaggaatcccttcccTgagattgaagagtcggagta	11	9	0	4	rs1801234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:16979661T>C	ENST00000377833.4	-	39	5921	c.5856A>G	c.(5854-5856)tcA>tcG	p.S1952S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1952	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCCCTTCCCTGAGATTGAAG	0.438													C|||	2711	0.541334	0.7542	0.5548	5008	,	,		14518	0.4911		0.4175	False		,,,				2504	0.4233				p.S1952S		Atlas-SNP	.											.	CUBN	515	.	0			c.A5856G						PASS	.	C		3022,1384	454.4+/-350.6	1029,964,210	62	66	65		5856	-4	0.2	10	dbSNP_89	65	3622,4978	625.2+/-397.7	782,2058,1460	no	coding-synonymous	CUBN	NM_001081.3		1811,3022,1670	CC,CT,TT		42.1163,31.4117,48.9159		1952/3624	16979661	6644,6362	2203	4300	6503	SO:0001819	synonymous_variant	8029	exon39			CTTCCCTGAGATT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5856A>G	10.37:g.16979661T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	70	40	0.571429	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			T|0.475;C|0.525	0.525	strong		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16979661	T	C	16979661	2	2	22	1	0	0	0	0	0	0	0	1	4051	1567	55	3		3	CUBN	10	16979661	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47171	16979661	118555086	5522	10630										
CUBN	8029	hgsc.bcm.edu	37	chr10	16979714	16979714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagaatttccagtggagcTgaaagattcagtctgggtac	11	7	2	3	rs41289305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:16979714T>C	ENST00000377833.4	-	39	5868	c.5803A>G	c.(5803-5805)Agc>Ggc	p.S1935G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1935	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.		S -> G (in dbSNP:rs41289305).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGTGGAGCTGAAAGATTCA	0.443													T|||	440	0.0878594	0.0189	0.1326	5008	,	,		14269	0.0387		0.165	False		,,,				2504	0.1207				p.S1935G		Atlas-SNP	.											.	CUBN	515	.	0			c.A5803G						PASS	.	T	GLY/SER	216,4190	127.4+/-164.3	7,202,1994	69	74	72		5803	0	0.1	10	dbSNP_127	72	1671,6929	306.6+/-308.0	174,1323,2803	yes	missense	CUBN	NM_001081.3	56	181,1525,4797	CC,CT,TT		19.4302,4.9024,14.5087	benign	1935/3624	16979714	1887,11119	2203	4300	6503	SO:0001583	missense	8029	exon39			TGGAGCTGAAAGA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5803A>G	10.37:g.16979714T>C	ENSP00000367064:p.Ser1935Gly	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	71	36	0.507042	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	202	0.0924908424908425	14	0.028455284552845527	46	0.1270718232044199	21	0.03671328671328671	121	0.15963060686015831	T	8.719	0.913980	0.17907	0.049024	0.194302	ENSG00000107611	ENST00000377833	T	0.34667	1.35	5.14	0.0435	0.14221	CUB (5);	0.158448	0.29932	N	0.010840	T	0.00039	0.0001	M	0.70903	2.155	0.80722	P	0.0	P	0.35527	0.507	B	0.37550	0.253	T	0.07809	-1.0753	9	0.23302	T	0.38	.	5.0229	0.14370	0.0:0.3313:0.1561:0.5126	rs41289305;rs61841446	1935	O60494	CUBN_HUMAN	G	1935	ENSP00000367064:S1935G	ENSP00000367064:S1935G	S	-	1	0	CUBN	17019720	0.192000	0.23301	0.136000	0.22124	0.696000	0.40369	0.548000	0.23314	0.036000	0.15547	0.482000	0.46254	AGC	T|0.874;C|0.126	0.126	strong		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16979714	T	C	16979714	3	2	22	1	0	0	0	0	1	0	0	0	4051	1580	55	3	5184	3	CUBN	10	16979714	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53	16979714	118555033	5523	10631										
CUBN	8029	hgsc.bcm.edu	37	chr10	17146590	17146590	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcacacttacaaaaataAccagagacagtgtcctaagg	8	9	1	1	rs12571671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:17146590A>G	ENST00000377833.4	-	12	1310	c.1245T>C	c.(1243-1245)ggT>ggC	p.G415G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	415	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G415G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACAAAAATAACCAGAGACAG	0.378													A|||	585	0.116813	0.0862	0.0937	5008	,	,		12733	0.25		0.0378	False		,,,				2504	0.1186				p.G415G		Atlas-SNP	.											CUBN,NS,carcinoma,0,1	CUBN	515	1	1	Substitution - coding silent(1)	stomach(1)	c.T1245C						PASS	.	A		403,4003	198.1+/-222.0	21,361,1821	71	57	62		1245	1.8	1	10	dbSNP_120	62	221,8379	90.6+/-152.8	5,211,4084	no	coding-synonymous	CUBN	NM_001081.3		26,572,5905	GG,GA,AA		2.5698,9.1466,4.7978		415/3624	17146590	624,12382	2203	4300	6503	SO:0001819	synonymous_variant	8029	exon12			AAAATAACCAGAG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1245T>C	10.37:g.17146590A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	142	73	0.514085	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			A|0.935;G|0.065	0.065	strong		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17146590	A	G	17146590	2	3	22	1	0	0	0	0	0	0	0	1	4051	30	2	2		2	CUBN	10	17146590	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	166876	17146590	118388157	5524	10632										
CUBN	8029	hgsc.bcm.edu	37	chr10	17152994	17152994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccacagaacagccgccGttatttatctcacattcatt	7	12	2	1	rs1801223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:17152994G>A	ENST00000377833.4	-	9	1004	c.939C>T	c.(937-939)aaC>aaT	p.N313N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	313	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACAGCCGCCGTTATTTATCT	0.473													G|||	1076	0.214856	0.1944	0.2262	5008	,	,		16541	0.25		0.2584	False		,,,				2504	0.1534				p.N313N		Atlas-SNP	.											.	CUBN	515	.	0			c.C939T						PASS	.	G		956,3450	361.4+/-315.7	109,738,1356	95	92	93		939	-0.5	0.9	10	dbSNP_89	93	1607,6993	299.3+/-304.4	157,1293,2850	no	coding-synonymous	CUBN	NM_001081.3		266,2031,4206	AA,AG,GG		18.686,21.6977,19.7063		313/3624	17152994	2563,10443	2203	4300	6503	SO:0001819	synonymous_variant	8029	exon9			GCCGCCGTTATTT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.939C>T	10.37:g.17152994G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			G|0.680;T|0.036	.	strong		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17152994	G	A	17152994	2	1	22	1	0	0	0	0	0	0	0	1	4051	1136	40	1		1	CUBN	10	17152994	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6404	17152994	118381753	5525	10633										
TRDMT1	1787	hgsc.bcm.edu	37	chr10	17204187	17204187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggagaatatctagaatatGtaagaagctattcgtccttg	10	5	1	3	rs11254413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:17204187G>A	ENST00000377799.3	-	4	348	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.H42Y|TRDMT1_ENST00000358282.7_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	101	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		H -> Y (in dbSNP:rs11254413). {ECO:0000269|PubMed:15489334}.		C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TCTAGAATATGTAAGAAGCTA	0.348													A|||	1928	0.384984	0.4039	0.4265	5008	,	,		15672	0.2599		0.494	False		,,,				2504	0.3466				p.H101Y		Atlas-SNP	.											.	TRDMT1	46	.	0			c.C301T						PASS	.	A	TYR/HIS	1898,2508	625.3+/-394.5	417,1064,722	125	135	132		301	-2.2	0.4	10	dbSNP_120	132	3897,4703	605.4+/-394.9	894,2109,1297	yes	missense	TRDMT1	NM_004412.5	83	1311,3173,2019	AA,AG,GG		45.314,43.0776,44.5564	benign	101/392	17204187	5795,7211	2203	4300	6503	SO:0001583	missense	1787	exon4			GAATATGTAAGAA	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.301C>T	10.37:g.17204187G>A	ENSP00000367030:p.His101Tyr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	96	34	0.354167	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	846	0.3873626373626374	180	0.36585365853658536	157	0.43370165745856354	147	0.256993006993007	362	0.47757255936675463	A	0.023	-1.403758	0.01165	0.430776	0.45314	ENSG00000107614	ENST00000377799;ENST00000457442	D;T	0.83837	-1.77;0.96	6.07	-2.15	0.07102	.	0.270142	0.43579	N	0.000550	T	0.00012	0.0000	N	0.16066	0.365	0.28965	P	0.889615	B;B	0.14805	0.0;0.011	B;B	0.24541	0.001;0.054	T	0.19192	-1.0313	9	0.06625	T	0.88	-4.2663	13.9397	0.64048	0.5764:0.0:0.4236:0.0	rs11254413;rs17857339;rs52789833;rs11254413	42;101	E7EMI8;O14717	.;TRDMT_HUMAN	Y	101;42	ENSP00000367030:H101Y;ENSP00000412256:H42Y	ENSP00000367030:H101Y	H	-	1	0	TRDMT1	17244193	0.130000	0.22417	0.408000	0.26446	0.422000	0.31414	0.633000	0.24598	-0.550000	0.06183	-1.036000	0.02392	CAT	G|0.579;A|0.421	0.421	strong		0.348	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		A	17204187	G	A	17204187	3	1	22	1	0	0	0	0	1	0	0	0	16464	1377	48	2	906	2	TRDMT1	10	17204187	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51193	17204187	118330560	5526	10634										
TRDMT1	1787	hgsc.bcm.edu	37	chr10	17216556	17216556	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacaattactcacttcaatCgtcttggcaagtaactgtgt	7	9	3	1	rs2273734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:17216556C>T	ENST00000377799.3	-	2	215	c.168G>A	c.(166-168)acG>acA	p.T56T	TRDMT1_ENST00000351358.4_Silent_p.T56T|TRDMT1_ENST00000377766.5_Silent_p.T56T|TRDMT1_ENST00000488990.1_Silent_p.T56T|TRDMT1_ENST00000412821.3_Silent_p.T56T|TRDMT1_ENST00000457442.2_Missense_Mutation_p.R23Q|TRDMT1_ENST00000358282.7_Silent_p.T56T	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	56	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TCACTTCAATCGTCTTGGCAA	0.383													T|||	1921	0.383586	0.4002	0.4265	5008	,	,		18412	0.2599		0.494	False		,,,				2504	0.3446				p.T56T		Atlas-SNP	.											.	TRDMT1	46	.	0			c.G168A						PASS	.	T		1874,2532	631.1+/-395.6	411,1052,740	130	114	119		168	-0.2	1	10	dbSNP_100	119	3900,4700	605.8+/-395.0	894,2112,1294	no	coding-synonymous	TRDMT1	NM_004412.5		1305,3164,2034	TT,TC,CC		45.3488,42.5329,44.3949		56/392	17216556	5774,7232	2203	4300	6503	SO:0001819	synonymous_variant	1787	exon2			TTCAATCGTCTTG	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.168G>A	10.37:g.17216556C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	62	27	0.435484	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Silent	SNP	ENST00000377799.3	37	CCDS7114.1	842|842	0.38553113553113555|0.38553113553113555	175|175	0.3556910569105691|0.3556910569105691	158|158	0.43646408839779005|0.43646408839779005	147|147	0.256993006993007|0.256993006993007	362|362	0.47757255936675463|0.47757255936675463	T|T	1.165|1.165	-0.642762|-0.642762	0.03531|0.03531	0.425329|0.425329	0.453488|0.453488	ENSG00000107614|ENSG00000107614	ENST00000313936;ENST00000436968|ENST00000457442	.|T	.|0.42513	.|0.97	5.35|5.35	-0.151|-0.151	0.13411|0.13411	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999999921|0.9999999999999921	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.44605|0.44605	-0.9317|-0.9317	3|7	.|0.87932	.|D	.|0	-12.7603|-12.7603	0.7609|0.7609	0.01007|0.01007	0.2203:0.1366:0.2313:0.4118|0.2203:0.1366:0.2313:0.4118	rs2273734;rs17465066;rs17854514;rs58298820;rs2273734|rs2273734;rs17465066;rs17854514;rs58298820;rs2273734	.|23	.|E7EMI8	.|.	N|Q	36|23	.|ENSP00000412256:R23Q	.|ENSP00000412256:R23Q	D|R	-|-	1|2	0|0	TRDMT1|TRDMT1	17256562|17256562	0.919000|0.919000	0.31177|0.31177	0.998000|0.998000	0.56505|0.56505	0.151000|0.151000	0.21798|0.21798	-0.303000|-0.303000	0.08210|0.08210	-0.112000|-0.112000	0.11979|0.11979	-1.584000|-1.584000	0.00852|0.00852	GAT|CGA	C|0.581;T|0.419	0.419	strong		0.383	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		T	17216556	C	T	17216556	2	4	22	1	0	0	0	0	0	0	0	1	16464	871	31	1		1	TRDMT1	10	17216556	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12369	17216556	118318191	5527	10635										
MRC1	4360	hgsc.bcm.edu	37	chr10	17891705	17891705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctgcaggaaggaaggcAgtgacctcgcaagtatccac	11	13	0	1	rs1926736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:17891705A>G	ENST00000331429.2	+	7	1289	c.1186A>G	c.(1186-1188)Agt>Ggt	p.S396G	MRC1L1_ENST00000457317.1_Missense_Mutation_p.S396G																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAAGGAAGGCAGTGACCTCGC	0.453													G|||	3115	0.622005	0.9002	0.4193	5008	,	,		10035	0.5833		0.5348	False		,,,				2504	0.5194				p.S396G		Atlas-SNP	.											.	MRC1	13	.	0			c.A1186G						PASS	.	G		3535,779		1611,313,233	152	181	171			3.7	1	10	dbSNP_92	171	4317,3961		1531,1255,1353	yes	intergenic				3142,1568,1586	GG,GA,AA		47.8497,18.0575,37.6429			17891705	7852,4740	2157	4139	6296	SO:0001583	missense	4360	exon7			GAAGGCAGTGACC																												ENST00000331429.2:c.1186A>G	10.37:g.17891705A>G	ENSP00000332124:p.Ser396Gly	Somatic	460	0	0		WXS	Illumina HiSeq	Phase_I	264	263	0.996212	NM_002438		Missense_Mutation	SNP	ENST00000331429.2	37		1273	0.5828754578754579	425	0.8638211382113821	173	0.47790055248618785	287	0.5017482517482518	388	0.5118733509234829	G	0.018	-1.471947	0.01044	0.819425	0.521503	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.16743	2.32;2.32	3.74	3.74	0.42951	.	0.000000	0.56097	N	0.000031	T	0.00012	0.0000	.	.	.	0.09310	P	0.999993	.	.	.	.	.	.	T	0.32929	-0.9888	6	0.02654	T	1	-10.1753	10.1029	0.42515	0.0957:0.0:0.9043:0.0	rs1926736;rs7077734;rs1926736	.	.	.	G	396	ENSP00000332124:S396G;ENSP00000391843:S396G	ENSP00000332124:S396G	S	+	1	0	AL928580.1	17931711	1.000000	0.71417	0.961000	0.40146	0.006000	0.05464	6.527000	0.73803	0.922000	0.37019	-0.360000	0.07572	AGT	.	.	weak		0.453	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			G	17891705	A	G	17891705	3	3	22	1	0	0	0	0	1	0	0	0	9756	188	7	3	1212	3	MRC1	10	17891705	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	675149	17891705	117643042	5528	10636										
MRC1	4360	hgsc.bcm.edu	37	chr10	18122716	18122716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgctttaacgtggcaccaAgcgaggaaaagctgccaaca	10	12	0	0	rs111490411		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:18122716A>G	ENST00000239761.3	+	4	829	c.726A>G	c.(724-726)caA>caG	p.Q242Q		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	242	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CGTGGCACCAAGCGAGGAAAA	0.468																																					p.Q242Q	GBM(115;1153 1594 28187 28781 35884)	Atlas-SNP	.											.	MRC1	13	.	0			c.G726G						PASS	.	G		250,2932		90,70,1431	90	79	83		726	2.6	1	10	dbSNP_132	83	1642,5476		728,186,2645	no	coding-synonymous	MRC1	NM_002438.2		818,256,4076	GG,GA,AA		23.0683,7.8567,18.3689		242/1457	18122716	1892,8408	1591	3559	5150	SO:0001819	synonymous_variant	4360	exon4			GCACCAAGCGAGG	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.726A>G	10.37:g.18122716A>G		Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_002438	A5PKW3|Q5VSJ2|Q5VSK2	Silent	SNP	ENST00000239761.3	37	CCDS7123.1																																																																																			A|0.250;G|0.750	0.750	weak		0.468	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		G	18122716	A	G	18122716	2	3	22	1	0	0	0	0	0	0	0	1	9756	69	3	3		3	MRC1	10	18122716	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	231011	18122716	117412031	5529	10637										
CACNB2	783	hgsc.bcm.edu	37	chr10	18828635	18828635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggggagtggaacagggaTgtttacatccgccaatgagt	15	7	0	1	rs58225473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:18828635T>G	ENST00000324631.7	+	14	2025	c.1965T>G	c.(1963-1965)gaT>gaG	p.D655E	RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.D562E|CACNB2_ENST00000377331.2_Missense_Mutation_p.D603E|CACNB2_ENST00000377329.4_Missense_Mutation_p.D601E|CACNB2_ENST00000396576.2_Missense_Mutation_p.D600E|CACNB2_ENST00000282343.8_Missense_Mutation_p.D627E|CACNB2_ENST00000377315.4_Missense_Mutation_p.D607E|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.D405E|CACNB2_ENST00000352115.6_Missense_Mutation_p.D631E	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	655					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAACAGGGATGTTTACATCC	0.413													T|||	486	0.0970447	0.0953	0.1138	5008	,	,		16792	0.0		0.1978	False		,,,				2504	0.0838				p.D655E		Atlas-SNP	.											.	CACNB2	220	.	0			c.T1965G						PASS	.	T	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	485,3921		25,435,1743	63	61	62		1800,1767,1821,1881,1809,1803,1851,1965,1893	2.8	1	10	dbSNP_129	62	1486,7110		130,1226,2942	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNB2	NM_000724.3,NM_001167945.1,NM_201570.2,NM_201571.3,NM_201572.3,NM_201590.2,NM_201593.2,NM_201596.2,NM_201597.2	45,45,45,45,45,45,45,45,45	155,1661,4685	GG,GT,TT		17.2871,11.0077,15.1592	benign,benign,benign,benign,benign,benign,benign,benign,benign	600/606,589/595,607/613,627/633,603/609,601/607,617/623,655/661,631/637	18828635	1971,11031	2203	4298	6501	SO:0001583	missense	783	exon14			CAGGGATGTTTAC	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1965T>G	10.37:g.18828635T>G	ENSP00000320025:p.Asp655Glu	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	59	36	0.610169	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	242	0.1108058608058608	50	0.1016260162601626	40	0.11049723756906077	0	0.0	152	0.20052770448548812	T	14.90	2.673763	0.47781	0.110077	0.172871	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.85702	-1.84;-1.87;-2.02;-1.82;-1.88;-1.83;-1.88;-1.83;-1.83	5.17	2.76	0.32466	.	0.047638	0.85682	N	0.000000	T	0.00608	0.0020	L	0.52573	1.65	0.22457	P	0.999087671	B;D;B;D;B;B;D;D;B;B;D;B	0.89917	0.008;1.0;0.001;0.996;0.005;0.011;0.99;0.996;0.013;0.031;0.998;0.014	B;D;B;D;B;B;D;D;B;B;D;B	0.83275	0.015;0.996;0.006;0.99;0.021;0.015;0.98;0.99;0.021;0.026;0.995;0.015	T	0.32771	-0.9894	9	0.59425	D	0.04	-13.1197	12.0567	0.53540	0.0:0.0:0.2731:0.7269	rs58225473	627;405;607;577;601;611;562;603;627;617;631;655	Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	E	655;631;405;627;603;600;562;601;607	ENSP00000320025:D655E;ENSP00000344474:D631E;ENSP00000366545:D405E;ENSP00000282343:D627E;ENSP00000366548:D603E;ENSP00000379821:D600E;ENSP00000366536:D562E;ENSP00000366546:D601E;ENSP00000366532:D607E	ENSP00000282343:D627E	D	+	3	2	CACNB2	18868641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.309000	0.33539	0.407000	0.25591	0.533000	0.62120	GAT	T|0.858;G|0.142	0.142	strong		0.413	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		G	18828635	T	G	18828635	3	3	22	1	0	0	0	0	1	0	0	0	2553	1461	51	5	2329	5	CACNB2	10	18828635	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	705919	18828635	116706112	5530	10638										
NEBL	10529	hgsc.bcm.edu	37	chr10	21134282	21134282	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaatctccttctcaaaatCctctttgtaaactttctgtt	2	10	4	0	rs41277370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:21134282C>G	ENST00000377122.4	-	12	1528	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	378			D -> H (in dbSNP:rs41277370).		cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D378H(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTCAAAATCCTCTTTGTAA	0.348													C|||	193	0.0385383	0.0053	0.0461	5008	,	,		16267	0.0268		0.0835	False		,,,				2504	0.044				p.D378H		Atlas-SNP	.											NEBL,NS,carcinoma,0,1	NEBL	199	1	1	Substitution - Missense(1)	stomach(1)	c.G1132C						PASS	.	C	,HIS/ASP,	81,4325	69.8+/-107.6	1,79,2123	113	110	111		,1132,	4.2	1	10	dbSNP_127	111	712,7886	174.2+/-224.5	27,658,3614	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,81,	28,737,5737	GG,GC,CC		8.281,1.8384,6.0981	,probably-damaging,	,378/1015,	21134282	793,12211	2203	4299	6502	SO:0001583	missense	10529	exon12			CAAAATCCTCTTT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1132G>C	10.37:g.21134282C>G	ENSP00000366326:p.Asp378His	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	26	0.40625	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	102	0.046703296703296704	8	0.016260162601626018	20	0.055248618784530384	15	0.026223776223776224	59	0.07783641160949868	C	16.21	3.059222	0.55325	0.018384	0.08281	ENSG00000078114	ENST00000377122	T	0.54071	0.59	6.14	4.24	0.50183	.	0.284706	0.36409	N	0.002617	T	0.12263	0.0298	M	0.86097	2.795	0.80722	D	1	P	0.48589	0.912	P	0.62298	0.9	T	0.47959	-0.9076	10	0.72032	D	0.01	.	9.0226	0.36209	0.0:0.8194:0.0:0.1806	rs41277370	378	O76041	NEBL_HUMAN	H	378	ENSP00000366326:D378H	ENSP00000366326:D378H	D	-	1	0	NEBL	21174288	0.999000	0.42202	0.978000	0.43139	0.719000	0.41307	3.614000	0.54160	0.869000	0.35703	-0.145000	0.13849	GAT	C|0.937;G|0.063	0.063	strong		0.348	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		G	21134282	C	G	21134282	3	3	22	1	0	0	0	0	1	0	0	0	10303	855	30	4	1980	4	NEBL	10	21134282	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2305647	21134282	114400465	5531	10639										
NEBL	10529	hgsc.bcm.edu	37	chr10	21139389	21139389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctcaacaaattcaagcaTtggctttcccttatttttct	4	10	3	0	rs4025981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:21139389T>C	ENST00000377122.4	-	11	1447	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	351			M -> V (in dbSNP:rs4025981). {ECO:0000269|PubMed:11140941}.		cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.M351V(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATTCAAGCATTGGCTTTCCC	0.318													T|||	194	0.038738	0.0053	0.0461	5008	,	,		19089	0.0268		0.0835	False		,,,				2504	0.045				p.M351V		Atlas-SNP	.											NEBL,NS,carcinoma,0,1	NEBL	199	1	1	Substitution - Missense(1)	stomach(1)	c.A1051G						PASS	.	T	,VAL/MET,	78,4328	68.7+/-106.4	0,78,2125	179	170	173		,1051,	4.1	0.8	10	dbSNP_108	173	717,7883	175.3+/-225.4	28,661,3611	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,21,	28,739,5736	CC,CT,TT		8.3372,1.7703,6.1126	,benign,	,351/1015,	21139389	795,12211	2203	4300	6503	SO:0001583	missense	10529	exon11			CAAGCATTGGCTT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1051A>G	10.37:g.21139389T>C	ENSP00000366326:p.Met351Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	102	0.046703296703296704	8	0.016260162601626018	20	0.055248618784530384	15	0.026223776223776224	59	0.07783641160949868	T	10.23	1.293962	0.23564	0.017703	0.083372	ENSG00000078114	ENST00000377122	T	0.04406	3.63	5.27	4.11	0.48088	.	0.150621	0.64402	D	0.000008	T	0.00384	0.0012	M	0.62209	1.925	0.80722	D	1	B	0.16396	0.017	B	0.17722	0.019	T	0.33214	-0.9877	10	0.52906	T	0.07	.	9.0093	0.36131	0.2954:0.0:0.0:0.7046	rs4025981;rs4025981	351	O76041	NEBL_HUMAN	V	351	ENSP00000366326:M351V	ENSP00000366326:M351V	M	-	1	0	NEBL	21179395	0.984000	0.35163	0.762000	0.31397	0.935000	0.57460	1.954000	0.40362	0.924000	0.37069	0.533000	0.62120	ATG	T|0.942;C|0.058	0.058	strong		0.318	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		C	21139389	T	C	21139389	3	2	22	1	0	0	0	0	1	0	0	0	10303	1493	52	2	2065	2	NEBL	10	21139389	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5107	21139389	114395358	5532	10640										
C10orf113	387638	hgsc.bcm.edu	37	chr10	21414892	21414892	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggcccagttgcctggatCtggttcaggagctgcctgga	14	11	2	0	rs625223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:21414892C>G	ENST00000534331.1	-	2	378	c.328G>C	c.(328-330)Gat>Cat	p.D110H	C10orf113_ENST00000377118.4_Missense_Mutation_p.D100H|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_3'UTR	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	110			D -> H (in dbSNP:rs625223). {ECO:0000269|PubMed:15489334}.							endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTGCCTGGATCTGGTTCAGGA	0.542													C|||	2719	0.542931	0.6657	0.3847	5008	,	,		16457	0.7063		0.3181	False		,,,				2504	0.5521				p.D110H		Atlas-SNP	.											.	C10orf113	32	.	0			c.G328C						PASS	.	C	,,,HIS/ASP	2636,1770	644.5+/-398.0	789,1058,356	67	69	68		,,,328	2.6	0.8	10	dbSNP_83	68	2896,5704	454.0+/-363.4	507,1882,1911	yes	intron,utr-3,intron,missense	NEBL,C10orf113	NM_001173484.1,NM_001177483.1,NM_213569.2,NM_001010896.2	,,,81	1296,2940,2267	GG,GC,CC		33.6744,40.1725,42.5342	,,,benign	,,,110/156	21414892	5532,7474	2203	4300	6503	SO:0001583	missense	387638	exon2			CTGGATCTGGTTC		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.328G>C	10.37:g.21414892C>G	ENSP00000433646:p.Asp110His	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	127	62	0.488189	NM_001010896	B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	CCDS31162.2	1069	0.48946886446886445	317	0.6443089430894309	127	0.35082872928176795	389	0.6800699300699301	236	0.3113456464379947	C	11.97	1.796893	0.31777	0.598275	0.336744	ENSG00000204683	ENST00000534331;ENST00000377118	T;T	0.41065	1.01;1.01	4.51	2.6	0.31112	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.52099	P	5.299999999996974E-5	B	0.23735	0.09	B	0.20767	0.031	T	0.33163	-0.9879	8	0.87932	D	0	-0.1856	10.9676	0.47421	0.0:0.5718:0.4282:0.0	rs625223;rs979004;rs52825206;rs625223	110	Q5VZT2	CJ113_HUMAN	H	110;100	ENSP00000433646:D110H;ENSP00000366322:D100H	ENSP00000366322:D100H	D	-	1	0	C10orf113	21454898	0.969000	0.33509	0.775000	0.31657	0.991000	0.79684	0.708000	0.25719	0.589000	0.29677	0.460000	0.39030	GAT	C|0.539;G|0.461	0.461	strong		0.542	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		G	21414892	C	G	21414892	3	3	22	1	0	0	0	0	1	0	0	0	1584	913	32	4	143	4	C10orf113	10	21414892	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	275503	21414892	114119855	5533	10641										
C10orf113	387638	hgsc.bcm.edu	37	chr10	21435341	21435344	+	Frame_Shift_Del	DEL	CACT	CACT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgattagtaaagcacaaaCactctctctcatataagcta					rs200339723|rs45546236|rs72102767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:21435341_21435344delCACT	ENST00000534331.1	-	1	144_147	c.94_97delAGTG	c.(94-99)agtgttfs	p.SV32fs	C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_Frame_Shift_Del_p.SV32fs	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	32										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAAGCACAAACACTCTCTCTCATA	0.397														1260	0.251597	0.2315	0.1671	5008	,	,		20280	0.3571		0.1948	False		,,,				2504	0.2883				p.32_33del		Pindel,Atlas-Indel	.											.	C10orf113	32	.	0			c.95_98del						PASS	.		,,,	902,3362		95,712,1325					,,,	-1.1	0		dbSNP_130	149	1513,6741		144,1225,2758	no	intron,frameshift,intron,frameshift	NEBL,C10orf113	NM_213569.2,NM_001177483.1,NM_001173484.1,NM_001010896.2	,,,	239,1937,4083	A1A1,A1R,RR		18.3305,21.1538,19.2922	,,,	,,,		2415,10103				SO:0001589	frameshift_variant	387638	exon1			.		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.94_97delAGTG	10.37:g.21435341_21435344delCACT	ENSP00000433646:p.Ser32fs	Somatic	130	.	.		WXS	Illumina HiSeq	Phase_I	151	59	0.391	NM_001177483	B9EIM9|E9PRX7	Frame_Shift_Del	DEL	ENST00000534331.1	37	CCDS31162.2																																																																																			CACT|0.769;-|0.231	0.231	strong		0.397	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		-	21435344	CACT	-	21435341	7	5	22	1	0	1	0	1	0	0	0	0	1584	478	17	0	413	0	C10orf113	10	21435341	Frame_Shift_Del	DEL	CACT	TCGA-G8-6324-01A-11D-2210-10	20449	21435341	114099406	5534	10642										
PIP4K2A	5305	hgsc.bcm.edu	37	chr10	22830842	22830842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatctgggggggttcccacCgggtgggtgccatcgctctc	15	13	2	0	rs61731109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:22830842C>T	ENST00000376573.4	-	8	1155	c.927G>A	c.(925-927)ccG>ccA	p.P309P	PIP4K2A_ENST00000545335.1_Silent_p.P250P|PIP4K2A_ENST00000323883.7_Silent_p.P169P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	309	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GGGTTCCCACCGGGTGGGTGC	0.592													C|||	98	0.0195687	0.0522	0.0101	5008	,	,		18503	0.0		0.0149	False		,,,				2504	0.0072				p.P309P		Atlas-SNP	.											.	PIP4K2A	59	.	0			c.G927A						PASS	.	C		217,4189	133.7+/-170.0	6,205,1992	79	73	75		927	-12.1	0	10	dbSNP_129	75	110,8490	58.3+/-119.8	1,108,4191	no	coding-synonymous	PIP4K2A	NM_005028.4		7,313,6183	TT,TC,CC		1.2791,4.9251,2.5142		309/407	22830842	327,12679	2203	4300	6503	SO:0001819	synonymous_variant	5305	exon8			TCCCACCGGGTGG	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.927G>A	10.37:g.22830842C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	41	0.418367	NM_005028	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	CCDS7141.1																																																																																			C|0.976;T|0.024	0.024	strong		0.592	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		T	22830842	C	T	22830842	2	4	22	1	0	0	0	0	0	0	0	1	11936	639	23	1		1	PIP4K2A	10	22830842	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1395501	22830842	112703905	5535	10643										
MSRB2	22921	hgsc.bcm.edu	37	chr10	23408278	23408278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgggtggccttcgttttcCgaggctcatggtacgtctgg	14	10	2	0	rs7427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:23408278C>T	ENST00000376510.3	+	4	445	c.342C>T	c.(340-342)tcC>tcT	p.S114S	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	114					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CTTCGTTTTCCGAGGCTCATG	0.502													C|||	1130	0.225639	0.2315	0.1571	5008	,	,		20241	0.123		0.327	False		,,,				2504	0.2679				p.S114S	Esophageal Squamous(89;1240 1363 4973 30188 42299)	Atlas-SNP	.											.	MSRB2	21	.	0			c.C342T						PASS	.	C		906,3100		97,712,1194	106	107	107		342	-10.5	0.6	10	dbSNP_52	107	2897,5443		477,1943,1750	no	coding-synonymous	MSRB2	NM_012228.3		574,2655,2944	TT,TC,CC		34.7362,22.6161,30.8035		114/183	23408278	3803,8543	2003	4170	6173	SO:0001819	synonymous_variant	22921	exon4			GTTTTCCGAGGCT	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.342C>T	10.37:g.23408278C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	118	53	0.449153	NM_012228	Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	ENST00000376510.3	37	CCDS41495.1																																																																																			C|0.746;T|0.254	0.254	strong		0.502	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		T	23408278	C	T	23408278	2	4	22	1	0	0	0	0	0	0	0	1	9888	639	23	1		1	MSRB2	10	23408278	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	577436	23408278	112126469	5536	10644										
THNSL1	79896	hgsc.bcm.edu	37	chr10	25312689	25312689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgtaggtcagaattctggAacatctatgaaagacttact	8	6	3	3	rs4748997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:25312689A>G	ENST00000524413.1	+	3	884	c.537A>G	c.(535-537)ggA>ggG	p.G179G	THNSL1_ENST00000376356.4_Silent_p.G179G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	179						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGAATTCTGGAACATCTATGA	0.358													A|||	1542	0.307907	0.0749	0.4308	5008	,	,		19714	0.4851		0.2714	False		,,,				2504	0.3906				p.G179G		Atlas-SNP	.											.	THNSL1	70	.	0			c.A537G						PASS	.	A		410,3996	190.2+/-216.2	26,358,1819	58	61	60		537	0.7	0.6	10	dbSNP_111	60	2451,6149	396.6+/-345.4	334,1783,2183	no	coding-synonymous	THNSL1	NM_024838.4		360,2141,4002	GG,GA,AA		28.5,9.3055,21.9975		179/744	25312689	2861,10145	2203	4300	6503	SO:0001819	synonymous_variant	79896	exon3			TTCTGGAACATCT	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.537A>G	10.37:g.25312689A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	48	48	1	NM_024838	B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	CCDS7147.1																																																																																			A|0.746;G|0.254	0.254	strong		0.358	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		G	25312689	A	G	25312689	2	3	22	1	0	0	0	0	0	0	0	1	15859	233	9	2		2	THNSL1	10	25312689	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1904411	25312689	110222058	5537	10645										
THNSL1	79896	hgsc.bcm.edu	37	chr10	25312895	25312895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgaacagaaggtttcagCaaaattctttagtgaagctg	10	6	2	3	rs34929144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:25312895C>A	ENST00000524413.1	+	3	1090	c.743C>A	c.(742-744)gCa>gAa	p.A248E	THNSL1_ENST00000376356.4_Missense_Mutation_p.A248E			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	248			A -> E (in dbSNP:rs34929144).			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AAGGTTTCAGCAAAATTCTTT	0.423													C|||	134	0.0267572	0.0015	0.0461	5008	,	,		19867	0.0		0.0368	False		,,,				2504	0.0644				p.A248E		Atlas-SNP	.											.	THNSL1	70	.	0			c.C743A						PASS	.	C	GLU/ALA	28,4378	31.7+/-61.6	0,28,2175	108	116	113		743	5.7	0.7	10	dbSNP_126	113	386,8214	123.9+/-182.7	10,366,3924	yes	missense	THNSL1	NM_024838.4	107	10,394,6099	AA,AC,CC		4.4884,0.6355,3.1831	benign	248/744	25312895	414,12592	2203	4300	6503	SO:0001583	missense	79896	exon3			TTTCAGCAAAATT	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.743C>A	10.37:g.25312895C>A	ENSP00000434887:p.Ala248Glu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	125	48	0.384	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	39	0.017857142857142856	2	0.0040650406504065045	15	0.04143646408839779	0	0.0	22	0.029023746701846966	C	12.01	1.808256	0.31961	0.006355	0.044884	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.28454	1.61;1.61	5.71	5.71	0.89125	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.882556	0.09541	N	0.788227	T	0.04452	0.0122	N	0.03608	-0.345	0.23739	N	0.996979	B	0.06786	0.001	B	0.06405	0.002	T	0.14062	-1.0486	10	0.72032	D	0.01	-15.6055	15.5512	0.76155	0.1463:0.8537:0.0:0.0	rs34929144	248	Q8IYQ7	THNS1_HUMAN	E	248	ENSP00000434887:A248E;ENSP00000365534:A248E	ENSP00000365534:A248E	A	+	2	0	THNSL1	25352901	0.002000	0.14202	0.664000	0.29753	0.906000	0.53458	1.046000	0.30354	2.700000	0.92200	0.650000	0.86243	GCA	C|0.974;A|0.026	0.026	strong		0.423	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		A	25312895	C	A	25312895	3	1	22	1	0	0	0	0	1	0	0	0	15859	710	25	4	745	4	THNSL1	10	25312895	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	206	25312895	110221852	5538	10646										
GAD2	2572	hgsc.bcm.edu	37	chr10	26559610	26559610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgccacagctggaaccacCgtgtacggagcatttgaccc	11	13	0	1	rs1805397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:26559610C>T	ENST00000376261.3	+	10	1520	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	GAD2_ENST00000259271.3_Silent_p.T339T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	339					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.T339T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGGAACCACCGTGTACGGAG	0.478													C|||	24	0.00479233	0.0008	0.0058	5008	,	,		20405	0.0		0.0189	False		,,,				2504	0.0				p.T339T		Atlas-SNP	.											.	GAD2	116	.	1	Substitution - coding silent(1)	lung(1)	c.C1017T						PASS	.	C	,	20,4386	27.2+/-55.0	0,20,2183	170	162	165		1017,1017	-11.5	0.4	10	dbSNP_92	165	165,8435	77.2+/-139.8	2,161,4137	no	coding-synonymous,coding-synonymous	GAD2	NM_000818.2,NM_001134366.1	,	2,181,6320	TT,TC,CC		1.9186,0.4539,1.4224	,	339/586,339/586	26559610	185,12821	2203	4300	6503	SO:0001819	synonymous_variant	2572	exon10			AACCACCGTGTAC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1017C>T	10.37:g.26559610C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	157	80	0.509554	NM_000818	Q9UD87	Silent	SNP	ENST00000376261.3	37	CCDS7149.1																																																																																			C|0.988;T|0.012	0.012	strong		0.478	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		T	26559610	C	T	26559610	2	4	22	1	0	0	0	0	0	0	0	1	6180	639	23	1		1	GAD2	10	26559610	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1246715	26559610	108975137	5539	10647										
MASTL	84930	hgsc.bcm.edu	37	chr10	27459670	27459670	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagattcagatagaagcatCaaagaatcctcttttgaaga	7	6	3	6	rs1981296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:27459670C>T	ENST00000375940.4	+	8	1839	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	MASTL_ENST00000342386.6_Silent_p.I594I|MASTL_ENST00000375946.4_Silent_p.I594I|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAGAAGCATCAAAGAATCCT	0.358													C|||	2527	0.504593	0.5234	0.5231	5008	,	,		16535	0.4375		0.6024	False		,,,				2504	0.4346				p.I594I		Atlas-SNP	.											.	MASTL	81	.	0			c.C1782T						PASS	.	C	,,	2428,1978	590.6+/-387.4	663,1102,438	34	35	35		1782,1782,1782	-0.8	0.9	10	dbSNP_92	35	5587,3013	633.7+/-398.8	1807,1973,520	no	coding-synonymous,coding-synonymous,coding-synonymous	MASTL	NM_001172303.1,NM_001172304.1,NM_032844.3	,,	2470,3075,958	TT,TC,CC		35.0349,44.8933,38.3746	,,	594/880,594/841,594/879	27459670	8015,4991	2203	4300	6503	SO:0001819	synonymous_variant	84930	exon8			AAGCATCAAAGAA	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1782C>T	10.37:g.27459670C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	73	37	0.506849	NM_032844	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	ENST00000375940.4	37	CCDS53502.1																																																																																			C|0.431;T|0.569	0.569	strong		0.358	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		T	27459670	C	T	27459670	2	4	22	1	0	0	0	0	0	0	0	1	9328	816	29	2		2	MASTL	10	27459670	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	900060	27459670	108075077	5540	10648										
MASTL	84930	hgsc.bcm.edu	37	chr10	27475444	27475444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatactgctcagcacctgacTgtatctggatttagtctgta	8	9	3	1	rs10741130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:27475444T>C	ENST00000375940.4	+	12	2676	c.2619T>C	c.(2617-2619)acT>acC	p.T873T	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Silent_p.T834T|MASTL_ENST00000375946.4_Silent_p.T872T			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	873	AGC-kinase C-terminal.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCACCTGACTGTATCTGGAT	0.388													C|||	2559	0.510982	0.5295	0.5231	5008	,	,		19363	0.4563		0.6103	False		,,,				2504	0.4315				p.T873T		Atlas-SNP	.											.	MASTL	81	.	0			c.T2619C						PASS	.	C	,,	2476,1930	549.0+/-377.7	689,1098,416	164	157	160		2619,2502,2616	-11.3	0	10	dbSNP_120	160	5659,2941	459.0+/-364.8	1853,1953,494	no	coding-synonymous,coding-synonymous,coding-synonymous	MASTL	NM_001172303.1,NM_001172304.1,NM_032844.3	,,	2542,3051,910	CC,CT,TT		34.1977,43.8039,37.4519	,,	873/880,834/841,872/879	27475444	8135,4871	2203	4300	6503	SO:0001819	synonymous_variant	84930	exon12			CCTGACTGTATCT	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2619T>C	10.37:g.27475444T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	111	57	0.513514	NM_001172303	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	ENST00000375940.4	37	CCDS53502.1																																																																																			T|0.404;C|0.596	0.596	strong		0.388	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		C	27475444	T	C	27475444	2	2	22	1	0	0	0	0	0	0	0	1	9328	1567	55	3		3	MASTL	10	27475444	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15774	27475444	108059303	5541	10649										
ACBD5	91452	hgsc.bcm.edu	37	chr10	27508758	27508758	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattaacggttttggcgttTggagtagaagtgagaacatt	12	5	0	2	rs10764690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:27508758T>C	ENST00000375888.1	-	6	610	c.546A>G	c.(544-546)ccA>ccG	p.P182P	ACBD5_ENST00000396271.3_Silent_p.P173P|ACBD5_ENST00000375897.3_Silent_p.P64P|ACBD5_ENST00000375905.4_Silent_p.P138P|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Silent_p.P64P			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	182					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTTTGGCGTTTGGAGTAGAAG	0.388													T|||	1592	0.317891	0.0696	0.3905	5008	,	,		4066	0.4147		0.4652	False		,,,				2504	0.3507				p.P173P		Atlas-SNP	.											ACBD5_ENST00000396271,NS,adenoma,0,2	ACBD5	75	2	0			c.A519G						PASS	.	T	,	714,3692	297.3+/-284.7	54,606,1543	131	114	119		414,519	2	1	10	dbSNP_120	119	4408,4192	584.9+/-391.8	1149,2110,1041	no	coding-synonymous,coding-synonymous	ACBD5	NM_001042473.2,NM_145698.3	,	1203,2716,2584	CC,CT,TT		48.7442,16.2052,39.3818	,	138/491,173/526	27508758	5122,7884	2203	4300	6503	SO:0001819	synonymous_variant	91452	exon6			GGCGTTTGGAGTA	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.546A>G	10.37:g.27508758T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	199	98	0.492462	NM_145698	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37																																																																																				T|0.634;C|0.366	0.366	strong		0.388	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		C	27508758	T	C	27508758	2	2	22	1	0	0	0	0	0	0	0	1	125	1799	63	2		2	ACBD5	10	27508758	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33314	27508758	108025989	5542	10650										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27702169	27702169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagccactgcttgctctgCacgtcgtactcagggtcctc	11	14	2	1	rs6482625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:27702169C>T	ENST00000438700.3	-	1	1128	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	337					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTTGCTCTGCACGTCGTACT	0.522													C|||	993	0.198283	0.3805	0.2839	5008	,	,		19255	0.0129		0.2137	False		,,,				2504	0.0665				p.V337V		Atlas-SNP	.											.	PTCHD3	140	.	0			c.G1011A						PASS	.	C		1589,2817	495.1+/-363.2	282,1025,896	132	135	134		1011	-0.2	0	10	dbSNP_116	134	1947,6653	341.6+/-324.1	234,1479,2587	no	coding-synonymous	PTCHD3	NM_001034842.3		516,2504,3483	TT,TC,CC		22.6395,36.0645,27.1875		337/768	27702169	3536,9470	2203	4300	6503	SO:0001819	synonymous_variant	374308	exon1			GCTCTGCACGTCG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1011G>A	10.37:g.27702169C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	155	155	1	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																			C|0.765;T|0.235	0.235	strong		0.522	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702169	C	T	27702169	2	4	22	1	0	0	0	0	0	0	0	1	12734	697	25	2		2	PTCHD3	10	27702169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193411	27702169	107832578	5543	10651										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27702688	27702688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatgctcctctaggtcttcCtcttcgtccttgggtaggta	9	11	3	0	rs7087552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:27702688C>T	ENST00000438700.3	-	1	609	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	164					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTAGGTCTTCCTCTTCGTCCT	0.652													C|||	993	0.198283	0.3805	0.2839	5008	,	,		14646	0.0129		0.2137	False		,,,				2504	0.0665				p.E164E		Atlas-SNP	.											.	PTCHD3	140	.	0			c.G492A						PASS	.	C		1586,2820	485.3+/-360.3	282,1022,899	90	100	96		492	-5	0	10	dbSNP_116	96	1936,6664	332.3+/-320.0	234,1468,2598	no	coding-synonymous	PTCHD3	NM_001034842.3		516,2490,3497	TT,TC,CC		22.5116,35.9964,27.0798		164/768	27702688	3522,9484	2203	4300	6503	SO:0001819	synonymous_variant	374308	exon1			GTCTTCCTCTTCG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.492G>A	10.37:g.27702688C>T		Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	102	101	0.990196	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																			C|0.764;T|0.236	0.236	strong		0.652	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702688	C	T	27702688	2	4	22	1	0	0	0	0	0	0	0	1	12734	680	24	2		2	PTCHD3	10	27702688	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	519	27702688	107832059	5544	10652										
SVIL	6840	hgsc.bcm.edu	37	chr10	29839787	29839787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcggaagagccgtcacccAcatggagggcatagtccttg	14	11	1	1	rs10160013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:29839787A>G	ENST00000355867.4	-	6	1318	c.566T>C	c.(565-567)gTg>gCg	p.V189A	SVIL_ENST00000375398.2_Missense_Mutation_p.V189A|SVIL_ENST00000375400.3_Missense_Mutation_p.V189A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	189			V -> A (in dbSNP:rs10160013). {ECO:0000269|PubMed:12711699, ECO:0000269|PubMed:9867483}.		cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V189A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCCGTCACCCACATGGAGGGC	0.592													C|||	1542	0.307907	0.4228	0.2651	5008	,	,		18277	0.3462		0.2386	False		,,,				2504	0.2147				p.V189A		Atlas-SNP	.											SVIL,NS,carcinoma,0,1	SVIL	226	1	1	Substitution - Missense(1)	stomach(1)	c.T566C						PASS	.	C	ALA/VAL,ALA/VAL	1833,2573		375,1083,745	91	92	92		566,566	-0.7	0	10	dbSNP_119	92	2246,6354		293,1660,2347	yes	missense,missense	SVIL	NM_003174.3,NM_021738.2	64,64	668,2743,3092	GG,GA,AA		26.1163,41.6024,31.3624	benign,benign	189/1789,189/2215	29839787	4079,8927	2203	4300	6503	SO:0001583	missense	6840	exon8			TCACCCACATGGA	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.566T>C	10.37:g.29839787A>G	ENSP00000348128:p.Val189Ala	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	108	53	0.490741	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	672	0.3076923076923077	201	0.40853658536585363	98	0.27071823204419887	190	0.3321678321678322	183	0.24142480211081793	C	5.753	0.323264	0.10900	0.416024	0.261163	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.40476	1.03;1.03;1.03	4.89	-0.679	0.11350	.	1.309280	0.04659	N	0.408500	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42378	-0.9455	8	.	.	.	0.0556	2.3037	0.04169	0.1303:0.1857:0.4323:0.2516	rs10160013;rs56604844;rs57764178;rs10160013	189;189	O95425-2;O95425	.;SVIL_HUMAN	A	189	ENSP00000364549:V189A;ENSP00000364547:V189A;ENSP00000348128:V189A	.	V	-	2	0	SVIL	29879793	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.415000	0.07106	-0.477000	0.06832	-0.187000	0.12897	GTG	A|0.692;G|0.308	0.308	strong		0.592	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29839787	A	G	29839787	3	3	22	1	0	0	0	0	1	0	0	0	15418	159	6	2	6210	2	SVIL	10	29839787	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2137099	29839787	105694960	5545	10653										
SVIL	6840	hgsc.bcm.edu	37	chr10	29840038	29840038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctgctttgtaccttgcAattctttcggctttggactc	7	11	2	0	rs3740003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:29840038A>G	ENST00000355867.4	-	6	1067	c.315T>C	c.(313-315)atT>atC	p.I105I	SVIL_ENST00000375400.3_Silent_p.I105I|SVIL_ENST00000375398.2_Silent_p.I105I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	105	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.I105I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTACCTTGCAATTCTTTCGG	0.527													G|||	1625	0.324481	0.4228	0.2666	5008	,	,		19588	0.3472		0.2416	False		,,,				2504	0.2945				p.I105I		Atlas-SNP	.											SVIL,NS,carcinoma,0,1	SVIL	226	1	1	Substitution - coding silent(1)	stomach(1)	c.T315C						PASS	.	G	,	1833,2573	636.9+/-396.7	375,1083,745	184	156	165		315,315	-1.8	0	10	dbSNP_107	165	2271,6329	707.6+/-405.6	294,1683,2323	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	669,2766,3068	GG,GA,AA		26.407,41.6024,31.5547	,	105/1789,105/2215	29840038	4104,8902	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon8			CCTTGCAATTCTT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.315T>C	10.37:g.29840038A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	184	82	0.445652	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			A|0.678;G|0.322	0.322	strong		0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29840038	A	G	29840038	2	3	22	1	0	0	0	0	0	0	0	1	15418	126	5	2		2	SVIL	10	29840038	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	251	29840038	105694709	5546	10654										
SVIL	6840	hgsc.bcm.edu	37	chr10	29840164	29840164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttttctagagaagaatcAgaagtttcctcctcttcatt	6	9	4	3	rs3740002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:29840164A>G	ENST00000355867.4	-	6	941	c.189T>C	c.(187-189)tcT>tcC	p.S63S	SVIL_ENST00000375398.2_Silent_p.S63S|SVIL_ENST00000375400.3_Silent_p.S63S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	63	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAGAAGAATCAGAAGTTTCCT	0.453													A|||	1277	0.254992	0.2337	0.245	5008	,	,		21044	0.3462		0.2376	False		,,,				2504	0.2147				p.S63S		Atlas-SNP	.											.	SVIL	226	.	0			c.T189C						PASS	.	A	,	1160,3246	398.8+/-331.0	153,854,1196	55	46	49		189,189	-4.9	0.4	10	dbSNP_107	49	2233,6367	362.0+/-332.6	287,1659,2354	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	440,2513,3550	GG,GA,AA		25.9651,26.3277,26.088	,	63/1789,63/2215	29840164	3393,9613	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon8			AGAATCAGAAGTT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.189T>C	10.37:g.29840164A>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	54	23	0.425926	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			A|0.744;G|0.256	0.256	strong		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29840164	A	G	29840164	2	3	22	1	0	0	0	0	0	0	0	1	15418	175	7	3		3	SVIL	10	29840164	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126	29840164	105694583	5547	10655										
SVIL	6840	hgsc.bcm.edu	37	chr10	29843833	29843833	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgagtgtcattttcaatCccttccaggcgcctggcaat	10	12	2	1	rs1547169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:29843833C>T	ENST00000355867.4	-	5	791	c.39G>A	c.(37-39)ggG>ggA	p.G13G	SVIL_ENST00000375400.3_Silent_p.G13G|SVIL_ENST00000375398.2_Silent_p.G13G	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	13	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CATTTTCAATCCCTTCCAGGC	0.502													C|||	1289	0.257388	0.2352	0.245	5008	,	,		16868	0.3552		0.2386	False		,,,				2504	0.2147				p.G13G		Atlas-SNP	.											.	SVIL	226	.	0			c.G39A						PASS	.	C	,	1161,3245	408.6+/-334.7	153,855,1195	77	74	75		39,39	-7.4	0.3	10	dbSNP_88	75	2236,6364	379.1+/-339.1	291,1654,2355	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	444,2509,3550	TT,TC,CC		26.0,26.3504,26.1187	,	13/1789,13/2215	29843833	3397,9609	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon7			TTCAATCCCTTCC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.39G>A	10.37:g.29843833C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			C|0.740;T|0.260	0.260	strong		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29843833	C	T	29843833	2	4	22	1	0	0	0	0	0	0	0	1	15418	842	30	2		2	SVIL	10	29843833	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3669	29843833	105690914	5548	10656										
KIAA1462	57608	hgsc.bcm.edu	37	chr10	30316872	30316872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgatcaccggtagggaaTgctgtgtgcgtctgagcttc	14	8	2	2	rs3739996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:30316872T>C	ENST00000375377.1	-	3	2306	c.2205A>G	c.(2203-2205)gcA>gcG	p.A735A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	735					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGGTAGGGAATGCTGTGTGCG	0.577													T|||	1058	0.211262	0.1127	0.2406	5008	,	,		20585	0.2242		0.3897	False		,,,				2504	0.1268				p.A735A		Atlas-SNP	.											.	KIAA1462	162	.	0			c.A2205G						PASS	.	T		556,3696		45,466,1615	54	57	56		2205	-11.2	0	10	dbSNP_107	56	3196,5302		593,2010,1646	no	coding-synonymous	KIAA1462	NM_020848.2		638,2476,3261	CC,CT,TT		37.6088,13.0762,29.4275		735/1360	30316872	3752,8998	2126	4249	6375	SO:0001819	synonymous_variant	57608	exon3			AGGGAATGCTGTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2205A>G	10.37:g.30316872T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	183	82	0.448087	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																			T|0.732;C|0.268	0.268	strong		0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		C	30316872	T	C	30316872	2	2	22	1	0	0	0	0	0	0	0	1	8234	1451	51	2		2	KIAA1462	10	30316872	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	473039	30316872	105217875	5549	10657										
CCDC7	79741	hgsc.bcm.edu	37	chr10	32832249	32832249	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactaagcctacaaataatCgaacaaagaaagctgtgaaa	6	7	0	2	rs201935164		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:32832249C>T	ENST00000362006.5	+	13	1558	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	CCDC7_ENST00000277657.6_Nonsense_Mutation_p.R339*	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	339										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TACAAATAATCGAACAAAGAA	0.264													C|||	1	0.000199681	0.0	0.0	5008	,	,		14861	0.001		0.0	False		,,,				2504	0.0				p.R339X		Atlas-SNP	.											CCDC7,colon,carcinoma,-1,1	CCDC7	47	1	0			c.C1015T						scavenged	.						28	29	29					10																	32832249		2186	4257	6443	SO:0001587	stop_gained	221016	exon13			AATAATCGAACAA	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1015C>T	10.37:g.32832249C>T	ENSP00000355078:p.Arg339*	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	213	3	0.0140845	NM_145023	Q5VW55|Q8IVQ0|Q8NEQ0	Nonsense_Mutation	SNP	ENST00000362006.5	37	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419212	0.96092	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	.	.	.	3.47	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-4.3315	8.3553	0.32327	0.2342:0.7658:0.0:0.0	.	.	.	.	X	339;339;8	.	ENSP00000277657:R339X	R	+	1	2	CCDC7	32872255	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.047000	0.11963	1.058000	0.40530	-0.278000	0.10074	CGA	C|0.999;T|0.001	0.001	weak		0.264	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		T	32832249	C	T	32832249	4	4	22	1	0	0	0	0	0	1	0	0	2842	876	31	1	1061	1	CCDC7	10	32832249	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2515377	32832249	102702498	5550	10658										
NRP1	8829	hgsc.bcm.edu	37	chr10	33469181	33469181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggaggacccccagggcActcatggctatgatggtgat	13	12	1	2	rs1048804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:33469181A>G	ENST00000265371.4	-	18	3120	c.2595T>C	c.(2593-2595)agT>agC	p.S865S	NRP1_ENST00000374867.2_Silent_p.S865S|NRP1_ENST00000395995.1_Silent_p.S848S|NRP1_ENST00000374875.1_Silent_p.S677S			O14786	NRP1_HUMAN	neuropilin 1	865					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S865S(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCCCAGGGCACTCATGGCTA	0.532													G|||	2125	0.424321	0.5666	0.2061	5008	,	,		18341	0.622		0.2455	False		,,,				2504	0.3671				p.S865S	Melanoma(104;886 1489 44640 45944 51153)	Atlas-SNP	.											NRP1,NS,carcinoma,0,1	NRP1	126	1	1	Substitution - coding silent(1)	stomach(1)	c.T2595C						PASS	.	G		2210,2196	585.1+/-386.2	574,1062,567	187	177	181		2595	-4.9	0.8	10	dbSNP_86	181	2024,6576	721.1+/-406.3	223,1578,2499	no	coding-synonymous	NRP1	NM_003873.5		797,2640,3066	GG,GA,AA		23.5349,49.8411,32.5542		865/924	33469181	4234,8772	2203	4300	6503	SO:0001819	synonymous_variant	8829	exon17			CAGGGCACTCATG	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2595T>C	10.37:g.33469181A>G		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	304	157	0.516447	NM_003873	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	CCDS7177.1																																																																																			A|0.634;G|0.366	0.366	strong		0.532	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			G	33469181	A	G	33469181	2	3	22	1	0	0	0	0	0	0	0	1	10660	156	6	2		2	NRP1	10	33469181	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	636932	33469181	102065566	5551	10659										
ANKRD30A	91074	hgsc.bcm.edu	37	chr10	37451768	37451768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaaaaatgaacaaacatTgagagcaggtaaatttttca	7	4	1	3	rs41276130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:37451768T>G	ENST00000602533.1	+	17	1925	c.1826T>G	c.(1825-1827)tTg>tGg	p.L609W	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L609W|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.L609W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	665					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAACAAACATTGAGAGCAGGT	0.328													.|||	209	0.0417332	0.0272	0.049	5008	,	,		15937	0.0		0.0885	False		,,,				2504	0.0511				p.L609W		Atlas-SNP	.											.	ANKRD30A	448	.	0			c.T1826G						PASS	.	T	TRP/LEU	141,3483		1,139,1672	99	88	91		1826	-0.2	0	10	dbSNP_127	91	759,7371		29,701,3335	no	missense	ANKRD30A	NM_052997.2	61	30,840,5007	GG,GT,TT		9.3358,3.8907,7.657	possibly-damaging	609/1342	37451768	900,10854	1812	4065	5877	SO:0001583	missense	91074	exon17			AAACATTGAGAGC	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1826T>G	10.37:g.37451768T>G	ENSP00000473551:p.Leu609Trp	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	221	105	0.475113	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		139	0.06364468864468864	27	0.054878048780487805	23	0.06353591160220995	0	0.0	89	0.11741424802110818	.	9.596	1.127302	0.20959	0.038907	0.093358	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.09911	2.94;2.93	0.882	-0.146	0.13432	.	.	.	.	.	T	0.00144	0.0004	L	0.36672	1.1	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.31024	-0.9958	9	0.56958	D	0.05	.	3.2093	0.06677	0.0:0.6711:0.0:0.3289	rs41276130	665	Q9BXX3	AN30A_HUMAN	W	609	ENSP00000354432:L609W;ENSP00000363792:L609W	ENSP00000354432:L609W	L	+	2	0	ANKRD30A	37491774	0.000000	0.05858	0.034000	0.17996	0.190000	0.23558	-1.984000	0.01487	-0.041000	0.13558	0.076000	0.15429	TTG	T|0.930;G|0.070	0.070	strong		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37451768	T	G	37451768	3	3	22	1	0	0	0	0	1	0	0	0	658	1821	63	5	1892	5	ANKRD30A	10	37451768	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3982587	37451768	98082979	5552	10660										
RET	5979	hgsc.bcm.edu	37	chr10	43615094	43615094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcagccgcaactccagCtccctggaccacccggatga	12	16	0	1	rs1800862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:43615094C>T	ENST00000355710.3	+	14	2740	c.2508C>T	c.(2506-2508)agC>agT	p.S836S	RET_ENST00000340058.5_Silent_p.S836S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	836	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCAACTCCAGCTCCCTGGACC	0.642		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				C|||	180	0.0359425	0.0129	0.0303	5008	,	,		15331	0.0		0.0586	False		,,,				2504	0.0849				p.S836S	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.C2508T	GRCh37	CM012798	RET	M	rs1800862	PASS	.	C	,	117,4289	83.9+/-122.4	2,113,2088	36	35	35		2508,2508	2.5	1	10	dbSNP_89	35	435,8163	128.3+/-186.6	17,401,3881	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	19,514,5969	TT,TC,CC		5.0593,2.6555,4.2448	,	836/1073,836/1115	43615094	552,12452	2203	4299	6502	SO:0001819	synonymous_variant	5979	exon14	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	CTCCAGCTCCCTG	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.2508C>T	10.37:g.43615094C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	61	0.491935	NM_020630	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																			C|0.960;T|0.040	0.040	strong		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43615094	C	T	43615094	2	4	22	1	0	0	0	0	0	0	0	1	13235	796	28	2		2	RET	10	43615094	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6163326	43615094	91919653	5553	10661										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43650915	43650915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaatgtaggggctaatggCataggctatcagagcaacaa	13	6	1	1	rs41298781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:43650915C>T	ENST00000374466.3	+	2	653	c.318C>T	c.(316-318)ggC>ggT	p.G106G	CSGALNACT2_ENST00000374464.1_Silent_p.G106G	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	106					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGGCTAATGGCATAGGCTATC	0.423													C|||	189	0.0377396	0.0121	0.0317	5008	,	,		20405	0.0		0.0636	False		,,,				2504	0.089				p.G106G		Atlas-SNP	.											CSGALNACT2,NS,carcinoma,+2,1	CSGALNACT2	67	1	0			c.C318T						PASS	.	C		112,4294	87.3+/-125.9	3,106,2094	77	65	69		318	3.7	1	10	dbSNP_127	69	511,8089	145.9+/-201.5	22,467,3811	no	coding-synonymous	CSGALNACT2	NM_018590.3		25,573,5905	TT,TC,CC		5.9419,2.542,4.7901		106/543	43650915	623,12383	2203	4300	6503	SO:0001819	synonymous_variant	55454	exon2			TAATGGCATAGGC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.318C>T	10.37:g.43650915C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	59	0.508621	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	CCDS7201.1																																																																																			C|0.955;T|0.045	0.045	strong		0.423	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43650915	C	T	43650915	2	4	22	1	0	0	0	0	0	0	0	1	3939	697	25	2		2	CSGALNACT2	10	43650915	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35821	43650915	91883832	5554	10662										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43654194	43654194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgagagagataagggcacAcagtatgaactcttttttaa	9	6	1	3	rs35718664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:43654194A>G	ENST00000374466.3	+	3	1028	c.693A>G	c.(691-693)acA>acG	p.T231T	CSGALNACT2_ENST00000374464.1_Silent_p.T231T	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	231					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATAAGGGCACACAGTATGAAC	0.403													G|||	189	0.0377396	0.0121	0.0317	5008	,	,		16738	0.0		0.0636	False		,,,				2504	0.089				p.T231T		Atlas-SNP	.											.	CSGALNACT2	67	.	0			c.A693G						PASS	.	G		112,4294	815.6+/-416.2	3,106,2094	101	96	97		693	-4.9	0.7	10	dbSNP_126	97	511,8089	796.1+/-407.5	22,467,3811	no	coding-synonymous	CSGALNACT2	NM_018590.3		25,573,5905	GG,GA,AA		5.9419,2.542,4.7901		231/543	43654194	623,12383	2203	4300	6503	SO:0001819	synonymous_variant	55454	exon3			GGGCACACAGTAT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.693A>G	10.37:g.43654194A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	101	57	0.564356	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	CCDS7201.1																																																																																			A|0.955;G|0.045	0.045	strong		0.403	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		G	43654194	A	G	43654194	2	3	22	1	0	0	0	0	0	0	0	1	3939	146	6	2		2	CSGALNACT2	10	43654194	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3279	43654194	91880553	5555	10663										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43678796	43678796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgattcggactccggttCctggtcttttccacctctgg	10	12	2	1	rs2435381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:43678796C>T	ENST00000374466.3	+	8	1770	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	479			P -> S (in dbSNP:rs2435381). {ECO:0000269|PubMed:17974005}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACTCCGGTTCCTGGTCTTTT	0.493													C|||	794	0.158546	0.0204	0.1945	5008	,	,		18543	0.1974		0.2644	False		,,,				2504	0.1708				p.P479S		Atlas-SNP	.											.	CSGALNACT2	67	.	0			c.C1435T						PASS	.	C	SER/PRO	306,4100	166.2+/-197.5	12,282,1909	140	138	138		1435	5.9	1	10	dbSNP_100	138	2293,6307	387.6+/-342.3	316,1661,2323	no	missense	CSGALNACT2	NM_018590.3	74	328,1943,4232	TT,TC,CC		26.6628,6.9451,19.9831	benign	479/543	43678796	2599,10407	2203	4300	6503	SO:0001583	missense	55454	exon8			CCGGTTCCTGGTC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1435C>T	10.37:g.43678796C>T	ENSP00000363590:p.Pro479Ser	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	232	103	0.443966	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	402	0.18406593406593408	16	0.032520325203252036	79	0.21823204419889503	115	0.20104895104895104	192	0.2532981530343008	C	13.73	2.324034	0.41096	0.069451	0.266628	ENSG00000169826	ENST00000374466	T	0.28069	1.63	5.87	5.87	0.94306	.	0.145736	0.64402	N	0.000004	T	0.00012	0.0000	L	0.39566	1.225	0.09310	P	1.0	B	0.25521	0.128	B	0.27887	0.084	T	0.23440	-1.0188	9	0.40728	T	0.16	-13.0868	20.5827	0.99408	0.0:1.0:0.0:0.0	rs2435381;rs3758518;rs17435753;rs2435381	479	Q8N6G5	CGAT2_HUMAN	S	479	ENSP00000363590:P479S	ENSP00000363590:P479S	P	+	1	0	CSGALNACT2	42998802	0.941000	0.31946	1.000000	0.80357	0.989000	0.77384	2.883000	0.48554	2.941000	0.99782	0.655000	0.94253	CCT	C|0.815;T|0.185	0.185	strong		0.493	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43678796	C	T	43678796	3	4	22	1	0	0	0	0	1	0	0	0	3939	855	30	2	1461	2	CSGALNACT2	10	43678796	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24602	43678796	91855951	5556	10664										
C10orf25	220979	hgsc.bcm.edu	37	chr10	45496126	45496126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaaatctcaaaatttgtGgaaagtatgcagtttctagg	8	5	3	0	rs41301609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:45496126G>A	ENST00000298298.1	-	1	210	c.182C>T	c.(181-183)cCa>cTa	p.P61L	ZNF22_ENST00000298299.3_5'UTR|CEP164P1_ENST00000456938.2_RNA	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	61			P -> L (in dbSNP:rs41301609).			extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CAAAATTTGTGGAAAGTATGC	0.458													A|||	276	0.0551118	0.0749	0.013	5008	,	,		17077	0.0972		0.0427	False		,,,				2504	0.0276				p.P61L		Atlas-SNP	.											.	C10orf25	11	.	0			c.C182T						PASS	.	A	LEU/PRO	243,4163	802.0+/-415.6	7,229,1967	72	74	73		182	-5.2	0	10	dbSNP_127	73	404,8196	800.0+/-407.4	6,392,3902	yes	missense	C10orf25	NM_001039380.2	98	13,621,5869	AA,AG,GG		4.6977,5.5152,4.9746	benign	61/123	45496126	647,12359	2203	4300	6503	SO:0001583	missense	220979	exon1			ATTTGTGGAAAGT	AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.182C>T	10.37:g.45496126G>A	ENSP00000298298:p.Pro61Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_001039380	A1L424|Q96NM5	Missense_Mutation	SNP	ENST00000298298.1	37	CCDS31187.1	146	0.06684981684981685	41	0.08333333333333333	6	0.016574585635359115	66	0.11538461538461539	33	0.04353562005277045	A	6.705	0.498748	0.12762	0.055152	0.046977	ENSG00000165511	ENST00000298298	T	0.39997	1.05	2.81	-5.15	0.02866	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.54753	P	1.3000000000040757E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.12734	-1.0536	8	0.87932	D	0	.	9.3936	0.38388	0.1834:0.1546:0.662:0.0	rs41301609	61	Q5T742	CJ025_HUMAN	L	61	ENSP00000298298:P61L	ENSP00000298298:P61L	P	-	2	0	C10orf25	44816132	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.507000	0.06352	-1.884000	0.01119	-0.360000	0.07572	CCA	G|0.948;A|0.052	0.052	strong		0.458	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047763.1	NM_145022		A	45496126	G	A	45496126	3	1	22	1	0	0	0	0	1	0	0	0	1598	1348	47	2	194	2	C10orf25	10	45496126	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1817330	45496126	90038621	5557	10665										
ZNF22	7570	hgsc.bcm.edu	37	chr10	45499272	45499272	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgtttcagccagagctcCcaccttattcaacatcagag	8	13	3	2	rs3740092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:45499272C>G	ENST00000298299.3	+	2	1049	c.456C>G	c.(454-456)tcC>tcG	p.S152S	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	152					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GCCAGAGCTCCCACCTTATTC	0.483													C|||	187	0.0373403	0.0151	0.0101	5008	,	,		17093	0.0893		0.0427	False		,,,				2504	0.0276				p.S152S		Atlas-SNP	.											ZNF22,colon,carcinoma,0,1	ZNF22	28	1	0			c.C456G						PASS	.	C		63,4343	60.5+/-97.4	0,63,2140	92	98	96		456	1.7	1	10	dbSNP_107	96	417,8183	131.3+/-189.1	6,405,3889	no	coding-synonymous	ZNF22	NM_006963.4		6,468,6029	GG,GC,CC		4.8488,1.4299,3.6906		152/225	45499272	480,12526	2203	4300	6503	SO:0001819	synonymous_variant	7570	exon2			GAGCTCCCACCTT	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.456C>G	10.37:g.45499272C>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_006963	Q5T741|Q96FM4	Silent	SNP	ENST00000298299.3	37	CCDS7211.1																																																																																			C|0.960;G|0.040	0.040	strong		0.483	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		G	45499272	C	G	45499272	2	3	22	1	0	0	0	0	0	0	0	1	17771	610	22	4		4	ZNF22	10	45499272	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3146	45499272	90035475	5558	10666										
ALOX5	240	hgsc.bcm.edu	37	chr10	45878050	45878050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtacatcacgctgaagacGccccacggggactacatcga	10	13	1	2	rs2228064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:45878050G>A	ENST00000374391.2	+	2	323	c.270G>A	c.(268-270)acG>acA	p.T90T	ALOX5_ENST00000542434.1_Silent_p.T90T	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	90	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGCTGAAGACGCCCCACGGGG	0.597													G|||	607	0.121206	0.3608	0.0519	5008	,	,		20104	0.0714		0.006	False		,,,				2504	0.0164				p.T90T		Atlas-SNP	.											ALOX5,right_lower_lobe,carcinoma,+1,1	ALOX5	88	1	0			c.G270A						PASS	.	G		1229,3177	423.8+/-340.2	151,927,1125	107	79	88		270	-6.7	0.8	10	dbSNP_98	88	40,8560	25.1+/-72.6	0,40,4260	yes	coding-synonymous	ALOX5	NM_000698.2		151,967,5385	AA,AG,GG		0.4651,27.8938,9.757		90/675	45878050	1269,11737	2203	4300	6503	SO:0001819	synonymous_variant	240	exon2			GAAGACGCCCCAC	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.270G>A	10.37:g.45878050G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	135	70	0.518519	NM_000698	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	CCDS7212.1																																																																																			G|0.902;A|0.098	0.098	strong		0.597	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45878050	G	A	45878050	2	1	22	1	0	0	0	0	0	0	0	1	540	1074	38	1		1	ALOX5	10	45878050	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	378778	45878050	89656697	5559	10667										
GPRIN2	9721	hgsc.bcm.edu	37	chr10	46999385	46999385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccagggtggccaggccCctgcaggcctggaaagggac	17	13	0	0	rs113256776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:46999385C>T	ENST00000374317.1	+	3	778	c.505C>T	c.(505-507)Cct>Tct	p.P169S	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P169S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	169										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCCAGGCCCCTGCAGGCCT	0.637													C|||	128	0.0255591	0.09	0.0115	5008	,	,		39000	0.0		0.001	False		,,,				2504	0.0				p.P169S		Atlas-SNP	.											.	GPRIN2	94	.	0			c.C505T						PASS	.	C	SER/PRO	231,4175		0,231,1972	39	40	40		505	0.7	0	10	dbSNP_132	40	1,8599		0,1,4299	yes	missense	GPRIN2	NM_014696.3	74	0,232,6271	TT,TC,CC		0.0116,5.2429,1.7838	probably-damaging	169/459	46999385	232,12774	2203	4300	6503	SO:0001583	missense	9721	exon3			CAGGCCCCTGCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.505C>T	10.37:g.46999385C>T	ENSP00000363436:p.Pro169Ser	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	70	15	0.214286	NM_014696	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181582	0.21787	0.052429	1.16E-4	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03330	3.97;3.97	4.71	0.695	0.18070	.	0.700953	0.12491	N	0.464220	T	0.00695	0.0023	M	0.63428	1.95	0.09310	N	1	B	0.22909	0.077	B	0.20767	0.031	T	0.39165	-0.9627	10	0.87932	D	0	-0.5548	3.3753	0.07235	0.1809:0.5265:0.0:0.2926	.	169	O60269	GRIN2_HUMAN	S	169	ENSP00000363436:P169S;ENSP00000363433:P169S	ENSP00000363433:P169S	P	+	1	0	GPRIN2	46419391	0.000000	0.05858	0.003000	0.11579	0.063000	0.16089	0.087000	0.14958	0.036000	0.15547	0.650000	0.86243	CCT	C|0.975;T|0.025	0.025	strong		0.637	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	46999385	C	T	46999385	3	4	22	1	0	0	0	0	1	0	0	0	6730	623	22	2	507	2	GPRIN2	10	46999385	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1121335	46999385	88535362	5560	10668										
PPYR1	5540	hgsc.bcm.edu	37	chr10	47086915	47086915	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacgtgatggtcttcatCgtcacttcctacagcattga	10	10	3	2	rs59974223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:47086915C>T	ENST00000395716.1	+	2	217	c.132C>T	c.(130-132)atC>atT	p.I44I	NPY4R_ENST00000374312.1_Silent_p.I44I			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	44					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGGTCTTCATCGTCACTTCCT	0.522																																					p.I44I		Atlas-SNP	.											.	PPYR1	54	.	0			c.C132T						PASS	.	C		589,3817		0,589,1614	238	209	219		132	0.5	0.5	10	dbSNP_129	219	922,7678		0,922,3378	no	coding-synonymous	PPYR1	NM_005972.4		0,1511,4992	TT,TC,CC		10.7209,13.3681,11.6177		44/376	47086915	1511,11495	2203	4300	6503	SO:0001819	synonymous_variant	5540	exon3			CTTCATCGTCACT		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.132C>T	10.37:g.47086915C>T		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	428	114	0.266355	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	CCDS31193.1																																																																																			C|0.835;T|0.165	0.165	strong		0.522	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			T	47086915	C	T	47086915	2	4	22	1	0	0	0	0	0	0	0	1	12416	874	31	1		1	PPYR1	10	47086915	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87530	47086915	88447832	5561	10669										
PPYR1	5540	hgsc.bcm.edu	37	chr10	47086978	47086978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctctgcctgatgtgtgtGactgtgaggcagaaggagaa	14	7	1	5	rs3740294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:47086978G>A	ENST00000395716.1	+	2	280	c.195G>A	c.(193-195)gtG>gtA	p.V65V	NPY4R_ENST00000374312.1_Silent_p.V65V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	65					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGATGTGTGTGACTGTGAGGC	0.557													G|||	871	0.173922	0.1029	0.1369	5008	,	,		43421	0.3264		0.1521	False		,,,				2504	0.1616				p.V65V		Atlas-SNP	.											.	PPYR1	54	.	0			c.G195A						PASS	.	G		302,4104		0,302,1901	234	210	218		195	1	0	10	dbSNP_107	218	974,7626		0,974,3326	no	coding-synonymous	PPYR1	NM_005972.4		0,1276,5227	AA,AG,GG		11.3256,6.8543,9.8109		65/376	47086978	1276,11730	2203	4300	6503	SO:0001819	synonymous_variant	5540	exon3			GTGTGTGACTGTG		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.195G>A	10.37:g.47086978G>A		Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	386	89	0.23057	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	CCDS31193.1																																																																																			G|0.852;A|0.148	0.148	strong		0.557	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			A	47086978	G	A	47086978	2	1	22	1	0	0	0	0	0	0	0	1	12416	1277	45	2		2	PPYR1	10	47086978	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63	47086978	88447769	5562	10670										
ZNF488	118738	hgsc.bcm.edu	37	chr10	48370595	48370595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatcaccatggcagctggGaagggagccccgttgagccc	15	12	1	2	rs11204210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:48370595G>A	ENST00000395702.2	+	2	290	c.63G>A	c.(61-63)ggG>ggA	p.G21G	ZNF488_ENST00000494156.1_Silent_p.G21G|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	21					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGCAGCTGGGAAGGGAGCCC	0.612													g|||	1837	0.366813	0.3396	0.2421	5008	,	,		18570	0.4812		0.329	False		,,,				2504	0.4131				p.G21G		Atlas-SNP	.											ZNF488,NS,carcinoma,0,2	ZNF488	38	2	0			c.G63A						PASS	.	G		1512,2892		262,988,952	54	60	58		63	0.1	0	10	dbSNP_120	58	2876,5720		490,1896,1912	no	coding-synonymous	ZNF488	NM_153034.2		752,2884,2864	AA,AG,GG		33.4574,34.3324,33.7538		21/341	48370595	4388,8612	2202	4298	6500	SO:0001819	synonymous_variant	118738	exon2			AGCTGGGAAGGGA	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.63G>A	10.37:g.48370595G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	87	29	0.333333	NM_153034	Q05CE0	Silent	SNP	ENST00000395702.2	37	CCDS7217.1																																																																																			G|0.644;A|0.356	0.356	strong		0.612	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		A	48370595	G	A	48370595	2	1	22	1	0	0	0	0	0	0	0	1	17937	1161	41	2		2	ZNF488	10	48370595	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1283617	48370595	87164152	5563	10671										
ZNF488	118738	hgsc.bcm.edu	37	chr10	48370747	48370747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccgggatgtgggcagtgCggagctggcactgttggtag	21	7	0	0	rs35618062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:48370747C>T	ENST00000395702.2	+	2	442	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ZNF488_ENST00000494156.1_Intron|ZNF488_ENST00000586537.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	72			A -> V (in dbSNP:rs35618062).		negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GTGGGCAGTGCGGAGCTGGCA	0.701													c|||	444	0.0886581	0.0666	0.0764	5008	,	,		12714	0.0724		0.1183	False		,,,				2504	0.1135				p.A72V		Atlas-SNP	.											.	ZNF488	38	.	0			c.C215T						PASS	.	C	VAL/ALA	388,4012		22,344,1834	25	31	29		215	3	0	10	dbSNP_126	29	1252,7344		73,1106,3119	yes	missense	ZNF488	NM_153034.2	64	95,1450,4953	TT,TC,CC		14.5649,8.8182,12.6193	benign	72/341	48370747	1640,11356	2200	4298	6498	SO:0001583	missense	118738	exon2			GCAGTGCGGAGCT	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.215C>T	10.37:g.48370747C>T	ENSP00000379054:p.Ala72Val	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	74	41	0.554054	NM_153034	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	189	0.08653846153846154	23	0.046747967479674794	29	0.08011049723756906	43	0.07517482517482517	94	0.12401055408970976	C	11.25	1.583609	0.28268	0.088182	0.145649	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.58210	1.79;0.53;0.53;0.35;1.21;1.19	4.85	2.98	0.34508	.	1.107820	0.06849	U	0.796999	T	0.00328	0.0010	L	0.54323	1.7	0.58432	P	1.0000000000287557E-6	B	0.22683	0.073	B	0.14578	0.011	T	0.05099	-1.0906	9	0.49607	T	0.09	.	8.3626	0.32367	0.0:0.705:0.1375:0.1575	rs35618062	72	Q96MN9	ZN488_HUMAN	V	72	ENSP00000379054:A72V;ENSP00000401469:A72V;ENSP00000415923:A72V;ENSP00000406508:A72V;ENSP00000410326:A72V;ENSP00000412898:A72V	ENSP00000379054:A72V	A	+	2	0	ZNF488	47990753	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.140000	0.16056	0.201000	0.20466	-2.110000	0.00354	GCG	C|0.890;T|0.110	0.110	strong		0.701	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		T	48370747	C	T	48370747	3	4	22	1	0	0	0	0	1	0	0	0	17937	768	27	1	217	1	ZNF488	10	48370747	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152	48370747	87164000	5564	10672										
FRMPD2	143162	hgsc.bcm.edu	37	chr10	49420008	49420008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccttaccctcaagaactTcagctcagcatcctctcccc	5	18	4	1	rs1864345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:49420008T>C	ENST00000374201.3	-	13	1902	c.1600A>G	c.(1600-1602)Aag>Gag	p.K534E	FRMPD2_ENST00000305531.3_Missense_Mutation_p.K509E|FRMPD2_ENST00000407470.4_Missense_Mutation_p.K502E	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	534	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		K -> E (in dbSNP:rs1864345). {ECO:0000269|PubMed:14702039}.		tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCAAGAACTTCAGCTCAGCA	0.577													C|||	1414	0.282348	0.6074	0.183	5008	,	,		16139	0.0694		0.2535	False		,,,				2504	0.1626				p.K534E		Atlas-SNP	.											.	FRMPD2	157	.	0			c.A1600G						PASS	.	C	GLU/LYS	2392,2014	561.2+/-380.7	663,1066,474	101	88	92		1600	3.4	1	10	dbSNP_92	92	1870,6730	727.7+/-406.6	186,1498,2616	yes	missense	FRMPD2	NM_001018071.3	56	849,2564,3090	CC,CT,TT		21.7442,45.7104,32.7695	benign	534/1310	49420008	4262,8744	2203	4300	6503	SO:0001583	missense	143162	exon13			AGAACTTCAGCTC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1600A>G	10.37:g.49420008T>C	ENSP00000363317:p.Lys534Glu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	596	0.27289377289377287	307	0.6239837398373984	73	0.20165745856353592	26	0.045454545454545456	190	0.25065963060686014	C	4.384	0.070801	0.08436	0.542896	0.217442	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.78595	-1.19;-1.19;-1.19	5.28	3.39	0.38822	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.00012	0.0000	N	0.00034	-2.56	0.58432	P	9.000000000036756E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47484	-0.9114	8	0.02654	T	1	.	8.6763	0.34181	0.0:0.6075:0.3133:0.0792	rs1864345;rs52798519;rs57169678;rs1864345	509;534;502	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	E	534;509;502	ENSP00000363317:K534E;ENSP00000307079:K509E;ENSP00000384339:K502E	ENSP00000307079:K509E	K	-	1	0	FRMPD2	49090014	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.490000	0.35573	0.225000	0.20959	-1.147000	0.01851	AAG	T|0.692;C|0.308	0.308	strong		0.577	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		C	49420008	T	C	49420008	3	2	22	1	0	0	0	0	1	0	0	0	6058	1792	62	2	2397	2	FRMPD2	10	49420008	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1049261	49420008	86114739	5565	10673										
FRMPD2	143162	hgsc.bcm.edu	37	chr10	49440168	49440168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgcttacttttcatataCgccaagccaaagtaggtgag	9	8	1	2	rs11816450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:49440168C>T	ENST00000374201.3	-	10	1460	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	FRMPD2_ENST00000305531.3_Silent_p.A362A|FRMPD2_ENST00000407470.4_Silent_p.A355A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	386	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTTTCATATACGCCAAGCCAA	0.498													C|||	226	0.0451278	0.1188	0.0173	5008	,	,		20618	0.0258		0.0109	False		,,,				2504	0.0204				p.A386A		Atlas-SNP	.											.	FRMPD2	157	.	0			c.G1158A						PASS	.	C		431,3975	209.8+/-230.5	28,375,1800	127	118	121		1158	-3	0.3	10	dbSNP_120	121	57,8543	34.8+/-89.0	2,53,4245	no	coding-synonymous	FRMPD2	NM_001018071.3		30,428,6045	TT,TC,CC		0.6628,9.7821,3.7521		386/1310	49440168	488,12518	2203	4300	6503	SO:0001819	synonymous_variant	143162	exon10			CATATACGCCAAG	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1158G>A	10.37:g.49440168C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	42	0.43299	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	CCDS31195.1																																																																																			C|0.961;T|0.039	0.039	strong		0.498	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		T	49440168	C	T	49440168	2	4	22	1	0	0	0	0	0	0	0	1	6058	523	19	1		1	FRMPD2	10	49440168	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20160	49440168	86094579	5566	10674										
LRRC18	474354	hgsc.bcm.edu	37	chr10	50121785	50121785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccttcagggcccccagtGtggtgggcacgctgtccagg	15	14	1	0	rs11101561|rs386743529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50121785G>A	ENST00000374160.3	-	1	492	c.416C>T	c.(415-417)aCa>aTa	p.T139I	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.T139I|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	139						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGCCCCCAGTGTGGTGGGCAC	0.592													G|||	639	0.127596	0.3994	0.085	5008	,	,		19487	0.0		0.0258	False		,,,				2504	0.0266				p.T139I		Atlas-SNP	.											.	LRRC18	52	.	0			c.C416T						PASS	.	G	ILE/THR,	1405,3001		269,867,1067	75	75	75		416,	6	1	10	dbSNP_120	75	190,8410		4,182,4114	yes	missense,intron	WDFY4,LRRC18	NM_001006939.3,NM_020945.1	89,	273,1049,5181	AA,AG,GG		2.2093,31.8883,12.2636	probably-damaging,	139/262,	50121785	1595,11411	2203	4300	6503	SO:0001583	missense	474354	exon1			CCCAGTGTGGTGG	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.416C>T	10.37:g.50121785G>A	ENSP00000363275:p.Thr139Ile	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	146	62	0.424658	NM_001006939	Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	CCDS31197.1	183	0.08379120879120878	142	0.2886178861788618	25	0.06906077348066299	0	0.0	16	0.021108179419525065	G	18.40	3.616785	0.66672	0.318883	0.022093	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.17054	2.3;2.3	5.98	5.98	0.97165	.	0.102656	0.64402	D	0.000002	T	0.00012	0.0000	M	0.85099	2.735	0.22342	P	0.999185278	D	0.59767	0.986	P	0.53649	0.731	T	0.03875	-1.0996	8	.	.	.	.	20.4434	0.99119	0.0:0.0:1.0:0.0	rs11101561;rs61200891	139	Q8N456	LRC18_HUMAN	I	139	ENSP00000363275:T139I;ENSP00000298124:T139I	.	T	-	2	0	LRRC18	49791791	0.986000	0.35501	0.969000	0.41365	0.830000	0.47004	1.869000	0.39519	2.838000	0.97847	0.655000	0.94253	ACA	G|0.891;A|0.109	0.109	strong		0.592	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		A	50121785	G	A	50121785	3	1	22	1	0	0	0	0	1	0	0	0	8974	1377	48	2	377	2	LRRC18	10	50121785	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	681617	50121785	85412962	5567	10675										
C10orf72	196740	hgsc.bcm.edu	37	chr10	50315893	50315893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaggcctcctgggagtcgAaggagtgtgcaaagaaccag	14	9	1	1	rs13088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50315893A>G	ENST00000332853.4	-	2	226	c.203T>C	c.(202-204)tTc>tCc	p.F68S	VSTM4_ENST00000298454.3_Missense_Mutation_p.F68S	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	68	Ig-like.		F -> S (in dbSNP:rs13088). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGGGAGTCGAAGGAGTGTGC	0.607													G|||	2485	0.496206	0.7753	0.4827	5008	,	,		19434	0.2401		0.3907	False		,,,				2504	0.501				p.F68S		Atlas-SNP	.											.	VSTM4	83	.	0			c.T203C						PASS	.	G	SER/PHE,SER/PHE	3121,1285	438.0+/-345.2	1116,889,198	61	61	61		203,203	1.8	0	10	dbSNP_52	61	3376,5224	640.7+/-399.6	676,2024,1600	yes	missense,missense	VSTM4	NM_001031746.3,NM_144984.2	155,155	1792,2913,1798	GG,GA,AA		39.2558,29.1648,49.9539	benign,benign	68/321,68/192	50315893	6497,6509	2203	4300	6503	SO:0001583	missense	196740	exon2			GAGTCGAAGGAGT	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.203T>C	10.37:g.50315893A>G	ENSP00000331062:p.Phe68Ser	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	131	61	0.465649	NM_144984	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	954	0.4368131868131868	374	0.7601626016260162	170	0.4696132596685083	121	0.21153846153846154	289	0.3812664907651715	G	0.006	-2.068113	0.00382	0.708352	0.392558	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.62941	-0.01;-0.01	1.75	1.75	0.24633	.	0.284997	0.21139	N	0.079509	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46414	-0.9193	9	0.02654	T	1	.	4.4037	0.11399	0.2404:0.0:0.7596:0.0	rs13088;rs1137471;rs3201257;rs17857253;rs52807236;rs61590125;rs13088	68;68	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	S	68	ENSP00000331062:F68S;ENSP00000298454:F68S	ENSP00000298454:F68S	F	-	2	0	VSTM4	49985899	0.001000	0.12720	0.001000	0.08648	0.046000	0.14306	-0.111000	0.10807	-0.651000	0.05415	-0.642000	0.03964	TTC	A|0.518;G|0.482	0.482	strong		0.607	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		G	50315893	A	G	50315893	3	3	22	1	0	0	0	0	1	0	0	0	1615	246	9	2	910	2	C10orf72	10	50315893	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	194108	50315893	85218854	5568	10676										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50531520	50531520	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcactatggggacacgacCttgctaagagaaccctgtcc	10	12	0	1	rs73307889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50531520C>A	ENST00000374144.3	+	3	1218	c.930C>A	c.(928-930)acC>acA	p.T310T	C10orf71_ENST00000323868.4_Silent_p.T310T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	310										endometrium(1)	1						GGGACACGACCTTGCTAAGAG	0.567													C|||	98	0.0195687	0.0719	0.0043	5008	,	,		19049	0.0		0.0	False		,,,				2504	0.0				p.T310T		Atlas-SNP	.											C10orf71_ENST00000374144,NS,carcinoma,+1,2	C10orf71	179	2	0			c.C930A						scavenged	.	C	,	237,3885		7,223,1831	70	79	76		930,930	-1.9	0	10	dbSNP_130	76	3,8405		0,3,4201	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	7,226,6032	AA,AC,CC		0.0357,5.7496,1.9154	,	310/1436,310/720	50531520	240,12290	2061	4204	6265	SO:0001819	synonymous_variant	118461	exon3			CACGACCTTGCTA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.930C>A	10.37:g.50531520C>A		Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			C|0.984;A|0.016	0.016	strong		0.567	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50531520	C	A	50531520	2	1	22	1	0	0	0	0	0	0	0	1	1614	668	24	4		4	C10orf71	10	50531520	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	215627	50531520	85003227	5569	10677										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50531907	50531907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaatgaacattatgatccCccctttaacatcagtaagct	4	13	1	2	rs74528495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50531907C>T	ENST00000374144.3	+	3	1605	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C10orf71_ENST00000323868.4_Silent_p.P439P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	439										endometrium(1)	1						ATTATGATCCCCCCTTTAACA	0.522													C|||	27	0.00539137	0.0182	0.0043	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.0				p.P439P		Atlas-SNP	.											.	C10orf71	179	.	0			c.C1317T						PASS	.	C	,	53,3975		0,53,1961	84	88	87		1317,1317	-2.9	0.4	10	dbSNP_133	87	1,8371		0,1,4185	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,54,6146	TT,TC,CC		0.0119,1.3158,0.4355	,	439/1436,439/720	50531907	54,12346	2014	4186	6200	SO:0001819	synonymous_variant	118461	exon3			TGATCCCCCCTTT	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1317C>T	10.37:g.50531907C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	98	42	0.428571	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			C|0.994;T|0.006	0.006	strong		0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50531907	C	T	50531907	2	4	22	1	0	0	0	0	0	0	0	1	1614	610	22	2		2	C10orf71	10	50531907	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	387	50531907	85002840	5570	10678										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50531931	50531931	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaacatcagtaagctcctGacccccatcatacccagcaa	4	15	2	1	rs75053680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50531931G>A	ENST00000374144.3	+	3	1629	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	C10orf71_ENST00000323868.4_Silent_p.L447L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	447										endometrium(1)	1						GTAAGCTCCTGACCCCCATCA	0.522													G|||	21	0.00419329	0.0008	0.0058	5008	,	,		17546	0.0		0.0139	False		,,,				2504	0.002				p.L447L		Atlas-SNP	.											C10orf71_ENST00000374144,NS,carcinoma,+2,2	C10orf71	179	2	0			c.G1341A						PASS	.	G	,	16,4066		0,16,2025	71	75	74		1341,1341	2.6	1	10	dbSNP_132	74	164,8262		3,158,4052	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	3,174,6077	AA,AG,GG		1.9464,0.392,1.4391	,	447/1436,447/720	50531931	180,12328	2041	4213	6254	SO:0001819	synonymous_variant	118461	exon3			GCTCCTGACCCCC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1341G>A	10.37:g.50531931G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			G|0.996;A|0.004	0.004	strong		0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50531931	G	A	50531931	2	1	22	1	0	0	0	0	0	0	0	1	1614	1277	45	2		2	C10orf71	10	50531931	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24	50531931	85002816	5571	10679										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50532155	50532155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctcacctctcttgaaagTgcttgatgagaaaactagag	8	9	2	4	rs61453891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50532155T>G	ENST00000374144.3	+	3	1853	c.1565T>G	c.(1564-1566)gTg>gGg	p.V522G	C10orf71_ENST00000323868.4_Missense_Mutation_p.V522G			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	522			V -> G (in dbSNP:rs61453891).							endometrium(1)	1						CTCTTGAAAGTGCTTGATGAG	0.502													T|||	150	0.0299521	0.1067	0.0115	5008	,	,		21076	0.0		0.001	False		,,,				2504	0.0				p.V522G		Atlas-SNP	.											.	C10orf71	179	.	0			c.T1565G						PASS	.	T	GLY/VAL,GLY/VAL	381,3695		19,343,1676	71	75	74		1565,1565	3.6	0.7	10	dbSNP_129	74	6,8358		0,6,4176	yes	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	109,109	19,349,5852	GG,GT,TT		0.0717,9.3474,3.1109	benign,benign	522/1436,522/720	50532155	387,12053	2038	4182	6220	SO:0001583	missense	118461	exon3			TGAAAGTGCTTGA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1565T>G	10.37:g.50532155T>G	ENSP00000363259:p.Val522Gly	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	45	0.511364	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	49	0.022435897435897436	44	0.08943089430894309	5	0.013812154696132596	0	0.0	0	0.0	T	0.006	-2.028060	0.00410	0.093474	7.17E-4	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13196	2.61;3.75	5.52	3.62	0.41486	.	0.465425	0.15896	N	0.239327	T	0.00109	0.0003	N	0.00170	-1.935	0.37892	D	0.930737	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	10	0.08599	T	0.76	.	4.4351	0.11547	0.071:0.3245:0.3604:0.2441	rs61453891	522	Q711Q0-3	.	G	522	ENSP00000318713:V522G;ENSP00000363259:V522G	ENSP00000318713:V522G	V	+	2	0	C10orf71	50202161	0.998000	0.40836	0.723000	0.30687	0.214000	0.24535	1.664000	0.37439	0.651000	0.30788	-0.202000	0.12741	GTG	T|0.977;G|0.023	0.023	strong		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		G	50532155	T	G	50532155	3	3	22	1	0	0	0	0	1	0	0	0	1614	1696	59	5	1567	5	C10orf71	10	50532155	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	224	50532155	85002592	5572	10680										
CHAT	1103	hgsc.bcm.edu	37	chr10	50824117	50824117	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgtggccggaatgcagaGatgaagcactgagcacagta	14	7	0	4	rs1880676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50824117G>A	ENST00000337653.2	+	2	439				CHAT_ENST00000395559.2_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000395562.2_Missense_Mutation_p.D7N|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Intron	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase						adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAATGCAGAGATGAAGCACT	0.502													G|||	809	0.161542	0.0061	0.1686	5008	,	,		23013	0.1716		0.2316	False		,,,				2504	0.2843				p.D7N		Atlas-SNP	.											CHAT_ENST00000395562,NS,meningioma,0,1	CHAT	162	1	0			c.G19A						PASS	.	G	,ASN/ASP,,,,,	157,2979		6,145,1417	205	171	181		,19,,,,,	3.2	0	10	dbSNP_92	181	1775,5389		221,1333,2028	yes	intron,missense,utr-5,intron,intron,intron,intron	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,23,,,,,	227,1478,3445	AA,AG,GG		24.7767,5.0064,18.7573	,,,,,,	,7/667,,,,,	50824117	1932,8368	1568	3582	5150	SO:0001627	intron_variant	1103	exon2			TGCAGAGATGAAG	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.287-431G>A	10.37:g.50824117G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	138	67	0.485507	NM_001142933	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	334	0.15293040293040294	5	0.01016260162601626	77	0.212707182320442	89	0.1555944055944056	163	0.21503957783641162	G	13.30	2.197365	0.38806	0.050064	0.247767	ENSG00000070748	ENST00000395562	D	0.85088	-1.94	3.16	3.16	0.36331	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.36813	P	0.11398900000000001	.	.	.	.	.	.	T	0.00984	-1.1491	5	0.87932	D	0	.	10.0691	0.42322	0.0:0.0:1.0:0.0	rs1880676;rs56499801;rs59491670;rs1880676	.	.	.	N	7	ENSP00000378929:D7N	ENSP00000378929:D7N	D	+	1	0	CHAT	50494123	0.004000	0.15560	0.013000	0.15412	0.005000	0.04900	1.413000	0.34725	2.090000	0.63153	0.655000	0.94253	GAT	G|0.836;A|0.164	0.164	strong		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		A	50824117	G	A	50824117	1	1	22	0	1	0	0	0	0	0	0	0	3313	942	33	2		2	CHAT	10	50824117	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	291962	50824117	84710630	5573	10681										
CHAT	1103	hgsc.bcm.edu	37	chr10	50824619	50824619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaggtcccccgtaagatgGcagcaaaaactcccagcagt	9	12	0	1	rs3810950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50824619G>A	ENST00000337653.2	+	2	511	c.358G>A	c.(358-360)Gca>Aca	p.A120T	CHAT_ENST00000351556.3_Missense_Mutation_p.A2T|CHAT_ENST00000395559.2_Missense_Mutation_p.A2T|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Missense_Mutation_p.A2T|CHAT_ENST00000395562.2_Missense_Mutation_p.A38T|CHAT_ENST00000339797.1_Missense_Mutation_p.A2T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	120			A -> T (in dbSNP:rs3810950). {ECO:0000269|PubMed:11172068, ECO:0000269|PubMed:1388731, ECO:0000269|PubMed:15489334}.		adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCGTAAGATGGCAGCAAAAAC	0.557													G|||	804	0.160543	0.0053	0.1671	5008	,	,		18114	0.1696		0.2316	False		,,,				2504	0.2832				p.A120T		Atlas-SNP	.											CHAT,NS,carcinoma,-1,1	CHAT	162	1	0			c.G358A	GRCh37	CM025920	CHAT	M	rs3810950	PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	228,4178	131.4+/-167.9	7,214,1982	114	85	95		4,112,4,358,4,4,4	3	0	10	dbSNP_107	95	2144,6456	354.6+/-329.6	263,1618,2419	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	58,58,58,58,58,58,58	270,1832,4401	AA,AG,GG		24.9302,5.1748,18.2377	benign,benign,benign,benign,benign,benign,benign	2/631,38/667,2/631,120/749,2/631,2/631,2/631	50824619	2372,10634	2203	4300	6503	SO:0001583	missense	1103	exon2			AAGATGGCAGCAA	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.358G>A	10.37:g.50824619G>A	ENSP00000337103:p.Ala120Thr	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_020549	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	332	0.152014652014652	5	0.01016260162601626	77	0.212707182320442	87	0.1520979020979021	163	0.21503957783641162	G	6.004	0.369097	0.11352	0.051748	0.249302	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-1.9;-1.95;-1.92	3.96	3.03	0.35002	.	0.678932	0.14323	N	0.326861	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B	0.25609	0.13;0.014	B;B	0.29942	0.109;0.005	T	0.05386	-1.0888	9	0.17369	T	0.5	-2.7401	5.388	0.16227	0.1117:0.222:0.6664:0.0	rs3810950;rs17775591;rs60084580;rs3810950	2;120	F8W8I2;P28329	.;CLAT_HUMAN	T	2;2;2;120;38;2	ENSP00000343486:A2T;ENSP00000345878:A2T;ENSP00000378926:A2T;ENSP00000337103:A120T;ENSP00000378929:A38T;ENSP00000390521:A2T	ENSP00000337103:A120T	A	+	1	0	CHAT	50494625	0.048000	0.20356	0.004000	0.12327	0.745000	0.42441	2.188000	0.42612	1.229000	0.43630	0.655000	0.94253	GCA	G|0.762;A|0.237	0.237	strong		0.557	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		A	50824619	G	A	50824619	3	1	22	1	0	0	0	0	1	0	0	0	3313	1203	42	2	408	2	CHAT	10	50824619	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	502	50824619	84710128	5574	10682										
OGDHL	55753	hgsc.bcm.edu	37	chr10	50954850	50954850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtgtaggagggcaggtcGctcaggtggaaggtctcata	17	7	2	0	rs75974530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:50954850G>A	ENST00000374103.4	-	10	1327	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	OGDHL_ENST00000419399.1_Silent_p.S357S|OGDHL_ENST00000432695.1_Silent_p.S205S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	414					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGGCAGGTCGCTCAGGTGGA	0.617													G|||	88	0.0175719	0.062	0.0072	5008	,	,		22610	0.0		0.001	False		,,,				2504	0.0				p.S414S		Atlas-SNP	.											.	OGDHL	149	.	0			c.C1242T						PASS	.	G	,,	299,4107	164.4+/-196.0	9,281,1913	151	102	119		1071,615,1242	-11.5	0.2	10	dbSNP_131	119	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	,,	9,290,6204	AA,AG,GG		0.1047,6.7862,2.3681	,,	357/954,205/802,414/1011	50954850	308,12698	2203	4300	6503	SO:0001819	synonymous_variant	55753	exon10			CAGGTCGCTCAGG	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1242C>T	10.37:g.50954850G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	126	66	0.52381	NM_018245	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	CCDS7234.1																																																																																			G|0.976;A|0.024	0.024	strong		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		A	50954850	G	A	50954850	2	1	22	1	0	0	0	0	0	0	0	1	10840	1078	38	1		1	OGDHL	10	50954850	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	130231	50954850	84579897	5575	10683										
AGAP7	653268	hgsc.bcm.edu	37	chr10	51465429	51465429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccagcccggtgtccatgtCcttggataggccatcgcttt	10	14	0	0	rs183573385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:51465429C>T	ENST00000374095.5	-	7	1152	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GTGTCCATGTCCTTGGATAGG	0.562													-|||	17	0.00339457	0.0	0.0043	5008	,	,		17858	0.0		0.0139	False		,,,				2504	0.0				p.D343N		Atlas-SNP	.											.	AGAP7	33	.	0			c.G1027A						PASS	.	C	ASN/ASP	8,4396		0,8,2194	116	137	130		1027		0	10		130	44,8556		0,44,4256	no	missense	AGAP7	NM_001077685.1	23	0,52,6450	TT,TC,CC		0.5116,0.1817,0.3999	benign	343/664	51465429	52,12952	2202	4300	6502	SO:0001583	missense	653268	exon7			CCATGTCCTTGGA																												ENST00000374095.5:c.1027G>A	10.37:g.51465429C>T	ENSP00000363208:p.Asp343Asn	Somatic	591	0	0		WXS	Illumina HiSeq	Phase_I	650	348	0.535385	NM_001077685	A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	12	0.005494505494505495	0	0.0	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	.	4.603	0.112029	0.08831	0.001817	0.005116	ENSG00000204169	ENST00000374095	T	0.56103	0.48	.	.	.	Pleckstrin homology domain (3);	0.720818	0.12823	N	0.436252	T	0.35393	0.0930	M	0.74647	2.275	0.25300	N	0.98928	B	0.06786	0.001	B	0.15052	0.012	T	0.30937	-0.9961	9	0.27082	T	0.32	.	4.5676	0.12195	0.0:0.6819:0.0:0.3181	.	343	Q5VUJ5	AGAP7_HUMAN	N	343	ENSP00000363208:D343N	ENSP00000363208:D343N	D	-	1	0	AGAP7	51135435	0.999000	0.42202	0.016000	0.15963	0.016000	0.09150	2.917000	0.48821	-1.351000	0.02197	-1.360000	0.01215	GAC	C|0.996;T|0.004	0.004	strong		0.562	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			T	51465429	C	T	51465429	3	4	22	1	0	0	0	0	1	0	0	0	373	855	30	2	968	2	AGAP7	10	51465429	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	510579	51465429	84069318	5576	10684										
FAM21A	387680	hgsc.bcm.edu	37	chr10	51827934	51827934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgggagcggccgtggtcgGtggaggagatccgcaggagc	21	8	0	1	rs55875820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:51827934G>A	ENST00000282633.5	+	2	118	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000314664.7_Missense_Mutation_p.V25M|FAM21A_ENST00000351071.6_Missense_Mutation_p.V25M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	25					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GCCGTGGTCGGTGGAGGAGAT	0.701													.|||	1540	0.307508	0.0681	0.3213	5008	,	,		12321	0.3304		0.5189	False		,,,				2504	0.3804				p.V25M		Atlas-SNP	.											FAM21A,NS,carcinoma,0,1	FAM21A	32	1	0			c.G73A						PASS	.	G	MET/VAL	488,3032		88,312,1360	8	12	11		73	1.6	1	10	dbSNP_129	11	3767,4229		1086,1595,1317	no	missense	FAM21A	NM_001005751.1	21	1174,1907,2677	AA,AG,GG		47.1111,13.8636,36.9486	benign	25/1342	51827934	4255,7261	1760	3998	5758	SO:0001583	missense	387680	exon2			TGGTCGGTGGAGG	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.73G>A	10.37:g.51827934G>A	ENSP00000282633:p.Val25Met	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_001005751	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	677	0.309981684981685	36	0.07317073170731707	112	0.30939226519337015	189	0.3304195804195804	340	0.44854881266490765	G	13.62	2.291169	0.40494	0.138636	0.471111	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	2.71	1.65	0.23941	.	0.156736	0.42821	D	0.000653	T	0.00012	0.0000	L	0.59912	1.85	0.09310	P	0.9999999999999996	B;B;B	0.30634	0.181;0.288;0.181	B;B;B	0.34722	0.136;0.136;0.188	T	0.46803	-0.9165	8	0.72032	D	0.01	-9.0815	6.6531	0.22973	0.0:0.0:0.5652:0.4347	rs55875820	25;25;25	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	M	25;25;24;25	.	ENSP00000282633:V25M	V	+	1	0	FAM21A	51497940	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	2.625000	0.46452	1.523000	0.49018	0.194000	0.17425	GTG	G|0.689;A|0.311	0.311	strong		0.701	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		A	51827934	G	A	51827934	3	1	22	1	0	0	0	0	1	0	0	0	5540	1261	44	2	79	2	FAM21A	10	51827934	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	362505	51827934	83706813	5577	10685										
ASAH2	56624	hgsc.bcm.edu	37	chr10	52005153	52005153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctgtggagcgttgggcAgctgtggagccctgggtggc	21	8	0	0	rs7097319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:52005153A>G	ENST00000395526.4	-	2	188	c.189T>C	c.(187-189)gcT>gcC	p.A63A	ASAH2_ENST00000329428.6_Silent_p.A44A|ASAH2_ENST00000447815.1_Silent_p.A63A	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	63					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						AGCGTTGGGCAGCTGTGGAGC	0.507													G|||	1663	0.332069	0.5719	0.1888	5008	,	,		13467	0.4276		0.0934	False		,,,				2504	0.2566				p.A63A		Atlas-SNP	.											ASAH2_ENST00000395526,NS,carcinoma,-1,2	ASAH2	69	2	0			c.T189C						scavenged	.	G	,	2234,2172	583.8+/-385.9	584,1066,553	71	81	78		189,189	1.4	0	10	dbSNP_116	78	821,7779	781.9+/-407.6	36,749,3515	no	coding-synonymous,coding-synonymous	ASAH2	NM_001143974.1,NM_019893.2	,	620,1815,4068	GG,GA,AA		9.5465,49.2964,23.4892	,	63/746,63/781	52005153	3055,9951	2203	4300	6503	SO:0001819	synonymous_variant	56624	exon2			TTGGGCAGCTGTG	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.189T>C	10.37:g.52005153A>G		Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	194	69	0.35567	NM_019893	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Silent	SNP	ENST00000395526.4	37	CCDS7239.2																																																																																			A|0.738;G|0.262	0.262	strong		0.507	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		G	52005153	A	G	52005153	2	3	22	1	0	0	0	0	0	0	0	1	1007	175	7	3		3	ASAH2	10	52005153	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	177219	52005153	83529594	5578	10686										
PRKG1	5592	hgsc.bcm.edu	37	chr10	53822344	53822344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaagacccagtctttctTagaactttaggaaaaggaga	10	6	2	4	rs113994747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:53822344T>C	ENST00000401604.2	+	7	1037	c.843T>C	c.(841-843)ctT>ctC	p.L281L	PRKG1_ENST00000373985.1_Silent_p.L269L|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000373980.4_Silent_p.L296L			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	281	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGTCTTTCTTAGAACTTTAG	0.403													T|||	106	0.0211661	0.0764	0.0058	5008	,	,		15835	0.0		0.001	False		,,,				2504	0.0				p.L296L		Atlas-SNP	.											.	PRKG1	167	.	0			c.T888C						PASS	.	T	,	299,4107	162.9+/-194.8	15,269,1919	65	67	66		843,888	0.8	1	10	dbSNP_132	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKG1	NM_001098512.2,NM_006258.3	,	15,269,6219	CC,CT,TT		0.0,6.7862,2.2989	,	281/672,296/687	53822344	299,12707	2203	4300	6503	SO:0001819	synonymous_variant	5592	exon7			CTTTCTTAGAACT		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.843T>C	10.37:g.53822344T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	119	68	0.571429	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	CCDS44399.1																																																																																			T|0.976;C|0.024	0.024	strong		0.403	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	53822344	T	C	53822344	2	2	22	1	0	0	0	0	0	0	0	1	12522	1741	61	2		2	PRKG1	10	53822344	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1817191	53822344	81712403	5579	10687										
PRKG1	5592	hgsc.bcm.edu	37	chr10	53921655	53921655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcgtctgacagctctttTaaacatttgattggagggct	9	7	2	2	rs56047641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:53921655T>C	ENST00000401604.2	+	9	1157	c.963T>C	c.(961-963)ttT>ttC	p.F321F	PRKG1_ENST00000373985.1_Silent_p.F309F|PRKG1_ENST00000373975.2_Silent_p.F39F|PRKG1_ENST00000373980.4_Silent_p.F336F			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	321	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGCTCTTTTAAACATTTGA	0.338													C|||	357	0.0712859	0.1944	0.0115	5008	,	,		17583	0.0605		0.001	False		,,,				2504	0.0307				p.F336F		Atlas-SNP	.											.	PRKG1	167	.	0			c.T1008C						PASS	.	C	,	722,3684	754.6+/-412.5	55,612,1536	156	147	150		963,1008	3.5	1	10	dbSNP_129	150	11,8589	816.8+/-406.9	0,11,4289	no	coding-synonymous,coding-synonymous	PRKG1	NM_001098512.2,NM_006258.3	,	55,623,5825	CC,CT,TT		0.1279,16.3867,5.6359	,	321/672,336/687	53921655	733,12273	2203	4300	6503	SO:0001819	synonymous_variant	5592	exon9			CTCTTTTAAACAT		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.963T>C	10.37:g.53921655T>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	CCDS44399.1																																																																																			T|0.947;C|0.053	0.053	strong		0.338	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	53921655	T	C	53921655	2	2	22	1	0	0	0	0	0	0	0	1	12522	1751	61	2		2	PRKG1	10	53921655	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99311	53921655	81613092	5580	10688										
MBL2	4153	hgsc.bcm.edu	37	chr10	54528236	54528236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattggtcaggaagaacttGttcccaacttgtttgcccag	9	11	1	1	rs35805975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:54528236G>A	ENST00000373968.3	-	4	472	c.408C>T	c.(406-408)aaC>aaT	p.N136N		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGAAGAACTTGTTCCCAACTT	0.463													G|||	56	0.0111821	0.0	0.0173	5008	,	,		18022	0.0		0.0358	False		,,,				2504	0.0082				p.N136N		Atlas-SNP	.											.	MBL2	55	.	0			c.C408T						PASS	.	G		22,4382	29.0+/-57.7	0,22,2180	91	97	95		408	-6.3	0	10	dbSNP_126	95	211,8389	90.4+/-152.6	2,207,4091	no	coding-synonymous	MBL2	NM_000242.2		2,229,6271	AA,AG,GG		2.4535,0.4995,1.7918		136/249	54528236	233,12771	2202	4300	6502	SO:0001819	synonymous_variant	4153	exon4			GAACTTGTTCCCA	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.408C>T	10.37:g.54528236G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	58	27	0.465517	NM_000242	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	CCDS7247.1																																																																																			G|0.981;A|0.019	0.019	strong		0.463	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		A	54528236	G	A	54528236	2	1	22	1	0	0	0	0	0	0	0	1	9350	1368	48	2		2	MBL2	10	54528236	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	606581	54528236	81006511	5581	10689										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55755491	55755491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccatccctttgtatattCgtttactaaagacaggagga	7	10	0	1	rs2135720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:55755491C>T	ENST00000320301.6	-	21	3180	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	PCDH15_ENST00000395438.1_Missense_Mutation_p.R929Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R929Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R934Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R929Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R892Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R858Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R936Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.R540Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R936Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R929Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R907Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	929	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs2135720). {ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGTATATTCGTTTACTAAA	0.403										HNSCC(58;0.16)			c|||	1579	0.315296	0.2368	0.1859	5008	,	,		18799	0.495		0.1988	False		,,,				2504	0.4479				p.R934Q		Atlas-SNP	.											PCDH15_ENST00000417177,NS,carcinoma,-1,4	PCDH15	1715	4	0			c.G2801A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1027,3379	379.2+/-323.2	116,795,1292	125	111	116	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2801,2786,2573,2786,2675,2720,2822,2786,2801,2786,2720,2786	3	0.9	10	dbSNP_96	116	1719,6881	313.0+/-311.1	160,1399,2741	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	43,43,43,43,43,43,43,43,43,43,43,43	276,2194,4033	TT,TC,CC		19.9884,23.3091,21.1133	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	934/1963,929/1958,858/1887,929/1953,892/1916,907/1936,941/1791,929/1540,934/1683,929/1678,907/1933,929/1956	55755491	2746,10260	2203	4300	6503	SO:0001583	missense	65217	exon22			TATATTCGTTTAC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2786G>A	10.37:g.55755491C>T	ENSP00000322604:p.Arg929Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	110	52	0.472727	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	646	0.2957875457875458	119	0.241869918699187	64	0.17679558011049723	307	0.5367132867132867	156	0.20580474934036938	C	5.539	0.284333	0.10513	0.233091	0.199884	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.60672	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;0.17	5.93	2.97	0.34412	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.04297	-0.235	0.45883	P	0.0012689999999999646	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30664	0.109;0.067;0.067;0.011;0.289;0.067;0.109;0.01;0.032;0.032;0.067;0.067;0.014;0.067	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24848	0.028;0.018;0.018;0.008;0.056;0.018;0.028;0.005;0.008;0.008;0.018;0.018;0.01;0.018	T	0.46105	-0.9215	8	0.16896	T	0.51	.	7.6818	0.28518	0.0:0.5239:0.3189:0.1572	rs2135720;rs61298453;rs2135720	907;929;929;934;858;892;929;929;936;936;929;934;929;929	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	936;934;929;929;540;936;892;929;907;929;929;934;858;929	ENSP00000363076:R936Q;ENSP00000410304:R934Q;ENSP00000378826:R929Q;ENSP00000386693:R540Q;ENSP00000378832:R936Q;ENSP00000378820:R892Q;ENSP00000354950:R929Q;ENSP00000378821:R907Q;ENSP00000322604:R929Q;ENSP00000378818:R929Q;ENSP00000412628:R858Q;ENSP00000363066:R929Q	ENSP00000322604:R929Q	R	-	2	0	PCDH15	55425497	0.002000	0.14202	0.929000	0.37066	0.126000	0.20510	0.539000	0.23175	1.512000	0.48834	-0.136000	0.14681	CGA	C|0.754;T|0.246	0.246	strong		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55755491	C	T	55755491	3	4	22	1	0	0	0	0	1	0	0	0	11511	884	31	1	4752	1	PCDH15	10	55755491	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1227255	55755491	79779256	5582	10690										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55955485	55955485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctactattcttaaaggtgaAgtcaaattgagactgtccga	9	7	2	2	rs7921598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:55955485A>G	ENST00000320301.6	-	11	1657	c.1263T>C	c.(1261-1263)acT>acC	p.T421T	PCDH15_ENST00000395438.1_Silent_p.T421T|PCDH15_ENST00000395430.1_Silent_p.T421T|PCDH15_ENST00000414778.1_Silent_p.T426T|PCDH15_ENST00000361849.3_Silent_p.T421T|PCDH15_ENST00000395432.2_Silent_p.T384T|PCDH15_ENST00000373957.3_Silent_p.T399T|PCDH15_ENST00000395446.1_Silent_p.T421T|PCDH15_ENST00000437009.1_Silent_p.T421T|PCDH15_ENST00000395445.1_Silent_p.T421T|PCDH15_ENST00000409834.1_Silent_p.T25T|PCDH15_ENST00000395440.1_Silent_p.T421T|PCDH15_ENST00000373965.2_Silent_p.T421T|PCDH15_ENST00000373955.1_Silent_p.T421T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.T399T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAAAGGTGAAGTCAAATTGA	0.358										HNSCC(58;0.16)			G|||	1282	0.25599	0.5348	0.2118	5008	,	,		17037	0.0863		0.1382	False		,,,				2504	0.2065				p.T426T		Atlas-SNP	.											.	PCDH15	1715	.	0			c.T1278C						PASS	.	G	,,,,,,,,,,,	2108,2298	601.9+/-389.8	506,1096,601	124	116	119	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1278,1263,1263,1263,1152,1197,1278,1263,1278,1263,1197,1263	4.1	0.9	10	dbSNP_116	119	1102,7498	768.6+/-407.6	65,972,3263	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	571,2068,3864	GG,GA,AA		12.814,47.8438,24.6809	,,,,,,,,,,,	426/1963,421/1958,421/1887,421/1953,384/1916,399/1936,426/1791,421/1540,426/1683,421/1678,399/1933,421/1956	55955485	3210,9796	2203	4300	6503	SO:0001819	synonymous_variant	65217	exon12			AGGTGAAGTCAAA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1263T>C	10.37:g.55955485A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																			A|0.756;G|0.244	0.244	strong		0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55955485	A	G	55955485	2	3	22	1	0	0	0	0	0	0	0	1	11511	59	3	3		3	PCDH15	10	55955485	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	199994	55955485	79579262	5583	10691										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55955610	55955610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtatttcaatgtgtagacCggcaaaggcaggaagaggat	13	6	1	2	rs10825269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:55955610C>T	ENST00000320301.6	-	11	1532	c.1138G>A	c.(1138-1140)Ggt>Agt	p.G380S	PCDH15_ENST00000395438.1_Missense_Mutation_p.G380S|PCDH15_ENST00000395430.1_Missense_Mutation_p.G380S|PCDH15_ENST00000414778.1_Missense_Mutation_p.G385S|PCDH15_ENST00000361849.3_Missense_Mutation_p.G380S|PCDH15_ENST00000395432.2_Missense_Mutation_p.G343S|PCDH15_ENST00000373957.3_Missense_Mutation_p.G358S|PCDH15_ENST00000395446.1_Missense_Mutation_p.G380S|PCDH15_ENST00000437009.1_Missense_Mutation_p.G380S|PCDH15_ENST00000395445.1_Missense_Mutation_p.G380S|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.G380S|PCDH15_ENST00000373965.2_Missense_Mutation_p.G380S|PCDH15_ENST00000373955.1_Missense_Mutation_p.G380S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G358S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	380	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> S (in dbSNP:rs10825269). {ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGTGTAGACCGGCAAAGGCA	0.383										HNSCC(58;0.16)			T|||	1218	0.243211	0.4871	0.2104	5008	,	,		16076	0.0863		0.1382	False		,,,				2504	0.2065				p.G385S		Atlas-SNP	.											.	PCDH15	1715	.	0			c.G1153A						PASS	.	T	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1947,2459	622.6+/-394.0	442,1063,698	127	122	124	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1153,1138,1138,1138,1027,1072,1153,1138,1153,1138,1072,1138	5.2	1	10	dbSNP_120	124	1101,7499	768.8+/-407.6	65,971,3264	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	56,56,56,56,56,56,56,56,56,56,56,56	507,2034,3962	TT,TC,CC		12.8023,44.1897,23.4353	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	385/1963,380/1958,380/1887,380/1953,343/1916,358/1936,385/1791,380/1540,385/1683,380/1678,358/1933,380/1956	55955610	3048,9958	2203	4300	6503	SO:0001583	missense	65217	exon12			GTAGACCGGCAAA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1138G>A	10.37:g.55955610C>T	ENSP00000322604:p.Gly380Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	454	0.2078754578754579	235	0.47764227642276424	68	0.1878453038674033	49	0.08566433566433566	102	0.1345646437994723	T	5.780	0.328284	0.10956	0.441897	0.128023	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;2.53;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.11201	0.11	0.51767	P	7.00000000000145E-5	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16396	0.017;0.004;0.004;0.007;0.004;0.007;0.017;0.0;0.014;0.014;0.0;0.0;0.0;0.001;0.007	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.003;0.003;0.002;0.004;0.0;0.003;0.003;0.0;0.0;0.001;0.001;0.002	T	0.41448	-0.9508	8	0.05959	T	0.93	.	10.7228	0.46050	0.0:0.0763:0.0:0.9237	rs10825269;rs52818022;rs59807776;rs10825269	358;380;380;385;380;343;380;380;380;380;380;385;380;358;380	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	380;385;380;380;380;380;380;343;380;358;358;380;380;385;380;380	ENSP00000363076:G380S;ENSP00000410304:G385S;ENSP00000378826:G380S;ENSP00000378832:G380S;ENSP00000378833:G380S;ENSP00000378827:G380S;ENSP00000378820:G343S;ENSP00000354950:G380S;ENSP00000378821:G358S;ENSP00000363068:G358S;ENSP00000322604:G380S;ENSP00000378818:G380S;ENSP00000412628:G380S;ENSP00000363066:G380S	ENSP00000322604:G380S	G	-	1	0	PCDH15	55625616	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.210000	0.42816	0.823000	0.34589	-0.332000	0.08345	GGT	C|0.772;T|0.228	0.228	strong		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55955610	C	T	55955610	3	4	22	1	0	0	0	0	1	0	0	0	11511	652	23	1	6465	1	PCDH15	10	55955610	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	125	55955610	79579137	5584	10692										
PCDH15	65217	hgsc.bcm.edu	37	chr10	56423968	56423968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcagatttcaaagagagAgcccaggatgatccctgaag	11	9	1	5	rs11004439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:56423968A>C	ENST00000320301.6	-	2	449	c.55T>G	c.(55-57)Tct>Gct	p.S19A	PCDH15_ENST00000395438.1_Missense_Mutation_p.S19A|PCDH15_ENST00000395430.1_Missense_Mutation_p.S19A|PCDH15_ENST00000414778.1_Missense_Mutation_p.S19A|PCDH15_ENST00000361849.3_Missense_Mutation_p.S19A|PCDH15_ENST00000395432.2_Missense_Mutation_p.S19A|PCDH15_ENST00000373957.3_Missense_Mutation_p.S19A|PCDH15_ENST00000395446.1_Missense_Mutation_p.S19A|PCDH15_ENST00000437009.1_Missense_Mutation_p.S19A|PCDH15_ENST00000395445.1_Missense_Mutation_p.S19A|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.S19A|PCDH15_ENST00000373965.2_Missense_Mutation_p.S19A|PCDH15_ENST00000373955.1_Missense_Mutation_p.S19A|PCDH15_ENST00000395442.1_Missense_Mutation_p.S19A|PCDH15_ENST00000395433.1_Missense_Mutation_p.S19A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	19			S -> A (in dbSNP:rs11004439). {ECO:0000269|PubMed:16369489, ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAAAGAGAGAGCCCAGGATG	0.383										HNSCC(58;0.16)			A|||	866	0.172923	0.1248	0.268	5008	,	,		17077	0.1409		0.2485	False		,,,				2504	0.1258				p.S19A		Atlas-SNP	.											.	PCDH15	1715	.	0			c.T55G						PASS	.	A	ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER,ALA/SER	662,3744	279.6+/-274.9	38,586,1579	82	74	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	55,55,55,55,55,55,55,55,55,55,55,55	0.6	0	10	dbSNP_120	77	2148,6452	363.6+/-333.2	290,1568,2442	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	99,99,99,99,99,99,99,99,99,99,99,99	328,2154,4021	CC,CA,AA		24.9767,15.025,21.6054	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	19/1963,19/1958,19/1887,19/1953,19/1916,19/1936,19/1791,19/1540,19/1683,19/1678,19/1933,19/1956	56423968	2810,10196	2203	4300	6503	SO:0001583	missense	65217	exon2			AGAGAGAGCCCAG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.55T>G	10.37:g.56423968A>C	ENSP00000322604:p.Ser19Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	72	39	0.541667	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	455	0.20833333333333334	70	0.14227642276422764	105	0.2900552486187845	86	0.15034965034965034	194	0.2559366754617414	A	6.536	0.467173	0.12402	0.15025	0.249767	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63096	0.54;0.58;0.5;0.49;0.49;0.73;0.63;0.48;0.47;-0.02;0.11;0.48;0.48;0.51;0.61;0.93	5.8	0.635	0.17723	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27229	0.033;0.033;0.033;0.033;0.112;0.033;0.033;0.059;0.105;0.048;0.172;0.0;0.023;0.0;0.033	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26416	0.035;0.066;0.066;0.066;0.014;0.066;0.035;0.023;0.034;0.034;0.034;0.002;0.069;0.001;0.066	T	0.14671	-1.0464	8	0.49607	T	0.09	.	5.8385	0.18621	0.337:0.3921:0.0:0.271	rs11004439;rs17500214;rs52833921;rs61191357;rs11004439	19;19;19;19;19;19;19;19;19;19;19;19;19;19;19	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	19	ENSP00000363076:S19A;ENSP00000410304:S19A;ENSP00000378826:S19A;ENSP00000378832:S19A;ENSP00000378833:S19A;ENSP00000378829:S19A;ENSP00000378827:S19A;ENSP00000378820:S19A;ENSP00000354950:S19A;ENSP00000378821:S19A;ENSP00000363068:S19A;ENSP00000322604:S19A;ENSP00000378818:S19A;ENSP00000412628:S19A;ENSP00000363066:S19A;ENSP00000394465:S19A	ENSP00000322604:S19A	S	-	1	0	PCDH15	56093974	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	-0.338000	0.07842	0.451000	0.26802	-0.723000	0.03601	TCT	A|0.797;C|0.203	0.203	strong		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		C	56423968	A	C	56423968	3	2	22	1	0	0	0	0	1	0	0	0	11511	304	11	5	7603	5	PCDH15	10	56423968	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	468358	56423968	79110779	5585	10693										
ZWINT	11130	hgsc.bcm.edu	37	chr10	58118630	58118630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaagtttctgaaacacccTgtcaagctcctgctgagtcc	7	14	2	2	rs2241666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:58118630T>C	ENST00000373944.3	-	6	597	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZWINT_ENST00000395405.1_Missense_Mutation_p.R187G|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.R67G|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	187			R -> G (in dbSNP:rs2241666). {ECO:0000269|PubMed:10806105, ECO:0000269|PubMed:15489334}.		establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGAAACACCCTGTCAAGCTCC	0.552													C|||	3816	0.761981	0.8026	0.7781	5008	,	,		18623	0.8313		0.6382	False		,,,				2504	0.7515				p.R187G		Atlas-SNP	.											.	ZWINT	39	.	0			c.A559G						PASS	.	C	,GLY/ARG,GLY/ARG	3318,1088	393.3+/-328.8	1247,824,132	125	123	124		,559,559	1.4	0	10	dbSNP_98	124	5429,3171	482.1+/-370.8	1714,2001,585	yes	intron,missense,missense	ZWINT	NM_001005413.1,NM_032997.2,NM_007057.3	,125,125	2961,2825,717	CC,CT,TT		36.8721,24.6936,32.7464	,benign,benign	,187/278,187/278	58118630	8747,4259	2203	4300	6503	SO:0001583	missense	11130	exon6			ACACCCTGTCAAG	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.559A>G	10.37:g.58118630T>C	ENSP00000363055:p.Arg187Gly	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	269	268	0.996283	NM_007057	A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	1607	0.7358058608058609	374	0.7601626016260162	275	0.7596685082872928	470	0.8216783216783217	488	0.6437994722955145	C	0.045	-1.268236	0.01433	0.753064	0.631279	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.48201	0.82;0.82;0.82	4.48	1.39	0.22231	.	0.919113	0.09040	N	0.857498	T	0.00012	0.0000	N	0.20401	0.57	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.35051	-0.9804	9	0.14656	T	0.56	-13.4497	7.0588	0.25113	0.0:0.3325:0.3545:0.3129	rs2241666;rs17652937;rs17856625;rs52808198;rs57541824;rs2241666	187	O95229	ZWINT_HUMAN	G	187;187;67	ENSP00000363055:R187G;ENSP00000378801:R187G;ENSP00000322850:R67G	ENSP00000322850:R67G	R	-	1	2	ZWINT	57788636	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.152000	0.16302	0.061000	0.16311	-0.821000	0.03111	AGG	C|0.704;N|0.000	0.704	strong		0.552	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			C	58118630	T	C	58118630	3	2	22	1	0	0	0	0	1	0	0	0	18246	1579	55	3	286	3	ZWINT	10	58118630	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1694662	58118630	77416117	5586	10694										
PHYHIPL	84457	hgsc.bcm.edu	37	chr10	61005244	61005244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccctgtggatctttctGtgggcaccgtggcagaaatc	12	11	2	2	rs2452505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:61005244G>C	ENST00000373880.4	+	5	1288	c.1024G>C	c.(1024-1026)Gtg>Ctg	p.V342L	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.V316L	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	342			V -> L (in dbSNP:rs2452505). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.5}.			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GGATCTTTCTGTGGGCACCGT	0.443													C|||	3704	0.739617	0.4781	0.8703	5008	,	,		18638	0.8829		0.8688	False		,,,				2504	0.7198				p.V342L		Atlas-SNP	.											.	PHYHIPL	44	.	0			c.G1024C						PASS	.	C	LEU/VAL,LEU/VAL	2376,2030	564.4+/-381.4	661,1054,488	74	70	71		946,1024	5.6	1	10	dbSNP_100	71	7239,1361	265.6+/-286.2	3059,1121,120	yes	missense,missense	PHYHIPL	NM_001143774.1,NM_032439.3	32,32	3720,2175,608	CC,CG,GG		15.8256,46.0735,26.0726	benign,benign	316/351,342/377	61005244	9615,3391	2203	4300	6503	SO:0001583	missense	84457	exon5			CTTTCTGTGGGCA	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.1024G>C	10.37:g.61005244G>C	ENSP00000362987:p.Val342Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	129	76	0.589147	NM_032439	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	CCDS7254.1	1687	0.7724358974358975	222	0.45121951219512196	310	0.856353591160221	499	0.8723776223776224	656	0.8654353562005277	C	1.226	-0.625495	0.03610	0.539265	0.841744	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.35236	1.32;1.32	5.56	5.56	0.83823	.	0.124557	0.35970	N	0.002863	T	0.00012	0.0000	N	0.00347	-1.61	0.09310	P	0.9999999999956716	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37820	-0.9689	9	0.02654	T	1	-27.1979	10.0761	0.42362	0.0:0.7902:0.1386:0.0712	rs2452505;rs17845284;rs17858117;rs52790960;rs2452505	316;342	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	L	342;316	ENSP00000362987:V342L;ENSP00000362985:V316L	ENSP00000362985:V316L	V	+	1	0	PHYHIPL	60675250	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.542000	0.36137	1.359000	0.45940	-0.120000	0.15030	GTG	G|0.259;C|0.741	0.741	strong		0.443	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		C	61005244	G	C	61005244	3	2	22	1	0	0	0	0	1	0	0	0	11867	1377	48	4	1074	4	PHYHIPL	10	61005244	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2886614	61005244	74529503	5587	10695										
ANK3	288	hgsc.bcm.edu	37	chr10	61830256	61830256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgataacttcaagtttactTtggctaaaagagcggtcagc	9	8	2	1	rs61732400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:61830256T>C	ENST00000280772.2	-	37	10574	c.10383A>G	c.(10381-10383)caA>caG	p.Q3461Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3461					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAAGTTTACTTTGGCTAAAAG	0.438													T|||	159	0.0317492	0.1135	0.0115	5008	,	,		21138	0.001		0.0	False		,,,				2504	0.0				p.Q3461Q		Atlas-SNP	.											.	ANK3	703	.	0			c.A10383G						PASS	.	T	,,,	449,3957	215.1+/-234.2	19,411,1773	83	80	81		,,,10383	-2.4	1	10	dbSNP_129	81	6,8594	4.3+/-15.6	0,6,4294	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	19,417,6067	CC,CT,TT		0.0698,10.1906,3.4984	,,,	,,,3461/4378	61830256	455,12551	2203	4300	6503	SO:0001819	synonymous_variant	288	exon37			TTTACTTTGGCTA	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10383A>G	10.37:g.61830256T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	120	62	0.516667	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																			T|0.970;C|0.030	0.030	strong		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61830256	T	C	61830256	2	2	22	1	0	0	0	0	0	0	0	1	622	1838	64	2		2	ANK3	10	61830256	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	825012	61830256	73704491	5588	10696										
ARID5B	84159	hgsc.bcm.edu	37	chr10	63829539	63829539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagcgctgccacttgtacCcgcagacattatgaaaggta	9	12	0	2	rs76296217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:63829539C>T	ENST00000279873.7	+	8	1592	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	ARID5B_ENST00000309334.5_Silent_p.T151T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	394	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCACTTGTACCCGCAGACATT	0.428													C|||	107	0.0213658	0.003	0.0389	5008	,	,		19689	0.0		0.0716	False		,,,				2504	0.0041				p.T394T		Atlas-SNP	.											.	ARID5B	125	.	0			c.C1182T						PASS	.	C		83,4323	70.9+/-108.8	1,81,2121	50	51	51		1182	-2.3	1	10	dbSNP_131	51	652,7948	166.7+/-218.6	28,596,3676	no	coding-synonymous	ARID5B	NM_032199.2		29,677,5797	TT,TC,CC		7.5814,1.8838,5.6512		394/1189	63829539	735,12271	2203	4300	6503	SO:0001819	synonymous_variant	84159	exon8			TTGTACCCGCAGA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1182C>T	10.37:g.63829539C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																			C|0.954;T|0.046	0.046	strong		0.428	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63829539	C	T	63829539	2	4	22	1	0	0	0	0	0	0	0	1	922	610	22	2		2	ARID5B	10	63829539	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1999283	63829539	71705208	5589	10697										
RTKN2	219790	hgsc.bcm.edu	37	chr10	63964653	63964653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccagaaggcttccatccaCttctgaagatcttctctatt	6	12	3	3	rs41274060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:63964653C>T	ENST00000373789.3	-	10	1245	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	RTKN2_ENST00000395265.1_Silent_p.K404K|RTKN2_ENST00000315289.2_Silent_p.K185K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	383	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCCATCCACTTCTGAAGAT	0.358													C|||	704	0.140575	0.295	0.1066	5008	,	,		17023	0.005		0.16	False		,,,				2504	0.0757				p.K383K		Atlas-SNP	.											.	RTKN2	68	.	0			c.G1149A						PASS	.	C		1173,3233	412.4+/-336.1	170,833,1200	77	79	78		1149	0.4	1	10	dbSNP_127	78	1355,7245	264.9+/-285.8	114,1127,3059	no	coding-synonymous	RTKN2	NM_145307.2		284,1960,4259	TT,TC,CC		15.7558,26.6228,19.4372		383/610	63964653	2528,10478	2203	4300	6503	SO:0001819	synonymous_variant	219790	exon10			CATCCACTTCTGA	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1149G>A	10.37:g.63964653C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_145307	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																			C|0.821;T|0.179	0.179	strong		0.358	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		T	63964653	C	T	63964653	2	4	22	1	0	0	0	0	0	0	0	1	13723	564	20	2		2	RTKN2	10	63964653	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	135114	63964653	71570094	5590	10698										
ADO	84890	hgsc.bcm.edu	37	chr10	64564892	64564892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcaccttccggggcagcGggggcggccgcggcgcttcc	17	17	1	0	rs2236295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:64564892G>T	ENST00000373783.1	+	1	377	c.73G>T	c.(73-75)Ggg>Tgg	p.G25W	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	25			G -> W (in dbSNP:rs2236295). {ECO:0000269|PubMed:15489334}.			mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCGGGGCAGCGGGGGCGGCCG	0.706													G|||	1060	0.211661	0.028	0.2305	5008	,	,		10717	0.1677		0.3678	False		,,,				2504	0.3313				p.G25W		Atlas-SNP	.											.	ADO	10	.	0			c.G73T						PASS	.	G	TRP/GLY	356,3958		29,298,1830	9	10	9		73	2	1	10	dbSNP_98	9	3015,5439		561,1893,1773	yes	missense	ADO	NM_032804.5	184	590,2191,3603	TT,TG,GG		35.6636,8.2522,26.4019	possibly-damaging	25/271	64564892	3371,9397	2157	4227	6384	SO:0001583	missense	84890	exon1			GGCAGCGGGGGCG	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.73G>T	10.37:g.64564892G>T	ENSP00000362888:p.Gly25Trp	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	13	9	0.692308	NM_032804	B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	CCDS7266.2	480	0.21978021978021978	20	0.04065040650406504	94	0.2596685082872928	90	0.15734265734265734	276	0.3641160949868074	g	17.48	3.401343	0.62288	0.082522	0.356636	ENSG00000181915	ENST00000373783	T	0.23348	1.91	3.86	1.95	0.26073	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.39150	P	0.037799999999999945	D	0.57899	0.981	P	0.48627	0.584	T	0.46665	-0.9175	8	0.37606	T	0.19	.	5.5759	0.17222	0.1642:0.1938:0.642:0.0	rs2236295	25	Q96SZ5	AEDO_HUMAN	W	25	ENSP00000362888:G25W	ENSP00000362888:G25W	G	+	1	0	ADO	64234898	0.998000	0.40836	0.994000	0.49952	0.783000	0.44284	2.261000	0.43276	0.948000	0.37687	0.651000	0.88453	GGG	G|0.779;T|0.221	0.221	strong		0.706	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		T	64564892	G	T	64564892	3	4	22	1	0	0	0	0	1	0	0	0	325	1116	39	4	75	4	ADO	10	64564892	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	600239	64564892	70969855	5591	10699										
LRRTM3	347731	hgsc.bcm.edu	37	chr10	68687179	68687179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacatttacggtctaactccCtgagaaccatccctgtgcga	7	13	1	1	rs35733981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:68687179C>T	ENST00000361320.4	+	2	1083	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	169					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GTCTAACTCCCTGAGAACCAT	0.488													C|||	185	0.0369409	0.1233	0.0072	5008	,	,		17671	0.001		0.004	False		,,,				2504	0.0123				p.L169L		Atlas-SNP	.											.	LRRTM3	241	.	0			c.C505T						PASS	.	C	,,	426,3980	204.5+/-226.7	23,380,1800	85	91	89		,,505	4.5	1	10	dbSNP_126	89	77,8523	44.5+/-102.8	0,77,4223	no	intron,intron,coding-synonymous	CTNNA3,LRRTM3	NM_001127384.1,NM_013266.2,NM_178011.3	,,	23,457,6023	TT,TC,CC		0.8953,9.6686,3.8674	,,	,,169/582	68687179	503,12503	2203	4300	6503	SO:0001819	synonymous_variant	347731	exon2			AACTCCCTGAGAA	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.505C>T	10.37:g.68687179C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	106	51	0.481132	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	CCDS7270.1																																																																																			C|0.964;T|0.036	0.036	strong		0.488	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		T	68687179	C	T	68687179	2	4	22	1	0	0	0	0	0	0	0	1	9041	680	24	2		2	LRRTM3	10	68687179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4122287	68687179	66847568	5592	10700										
PBLD	64081	hgsc.bcm.edu	37	chr10	70044031	70044031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccagctctcctcctcggTgggaacactgaaaagctaaa	8	13	1	1	rs4142048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70044031T>C	ENST00000358769.2	-	10	972	c.770A>G	c.(769-771)cAc>cGc	p.H257R	PBLD_ENST00000336578.1_Missense_Mutation_p.H224R|PBLD_ENST00000309049.4_Missense_Mutation_p.H257R	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	257			H -> R (in dbSNP:rs4142048). {ECO:0000269|PubMed:15806103}.		biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCTCCTCGGTGGGAACACTG	0.418													C|||	1499	0.299321	0.3275	0.3847	5008	,	,		19313	0.2946		0.1968	False		,,,				2504	0.3108				p.H257R		Atlas-SNP	.											.	PBLD	53	.	0			c.A770G						PASS	.	C	ARG/HIS	1394,3012	688.1+/-404.9	224,946,1033	129	112	118		770	-3.4	0	10	dbSNP_110	118	1656,6944	740.9+/-407.1	155,1346,2799	yes	missense	PBLD	NM_022129.3	29	379,2292,3832	CC,CT,TT		19.2558,31.6387,23.4507	benign	257/289	70044031	3050,9956	2203	4300	6503	SO:0001583	missense	64081	exon10			CCTCGGTGGGAAC	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.770A>G	10.37:g.70044031T>C	ENSP00000351619:p.His257Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_022129	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	600	0.27472527472527475	153	0.31097560975609756	119	0.3287292817679558	175	0.30594405594405594	153	0.20184696569920843	C	0.014	-1.582466	0.00879	0.316387	0.192558	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049	T;T;T	0.27890	1.64;1.64;1.64	5.76	-3.42	0.04825	.	0.876636	0.10093	N	0.716886	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.13470	T	0.59	19.1478	8.1479	0.31124	0.0:0.3771:0.2466:0.3763	rs4142048;rs52827340;rs59287186;rs4142048	257	P30039	PBLD_HUMAN	R	224;257;257	ENSP00000338041:H224R;ENSP00000351619:H257R;ENSP00000308466:H257R	ENSP00000308466:H257R	H	-	2	0	PBLD	69714037	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-4.606000	0.00209	-1.970000	0.01003	-2.815000	0.00110	CAC	T|0.753;C|0.247	0.247	strong		0.418	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		C	70044031	T	C	70044031	3	2	22	1	0	0	0	0	1	0	0	0	11489	1696	59	2	100	2	PBLD	10	70044031	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1356852	70044031	65490716	5593	10701										
HNRNPH3	3189	hgsc.bcm.edu	37	chr10	70101417	70101417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggttctggaatgggagGctacggaagagatggaatgg	20	3	1	1	rs16925347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70101417G>C	ENST00000265866.7	+	8	1016	c.851G>C	c.(850-852)gGc>gCc	p.G284A	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G269A|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G176A	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	284	Gly-rich.		G -> A (in dbSNP:rs16925347).		epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGAATGGGAGGCTACGGAAGA	0.368													G|||	183	0.0365415	0.003	0.098	5008	,	,		17232	0.001		0.0845	False		,,,				2504	0.0256				p.G284A		Atlas-SNP	.											.	HNRNPH3	33	.	0			c.G851C						PASS	.	G	ALA/GLY,ALA/GLY	89,4317	74.1+/-112.3	2,85,2116	95	101	99		851,806	4.8	1	10	dbSNP_123	99	787,7813	185.3+/-233.1	39,709,3552	yes	missense,missense	HNRNPH3	NM_012207.2,NM_021644.3	60,60	41,794,5668	CC,CG,GG		9.1512,2.02,6.7354	probably-damaging,probably-damaging	284/347,269/332	70101417	876,12130	2203	4300	6503	SO:0001583	missense	3189	exon8			TGGGAGGCTACGG		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.851G>C	10.37:g.70101417G>C	ENSP00000265866:p.Gly284Ala	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	122	65	0.532787	NM_012207	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	113	0.051739926739926737	1	0.0020325203252032522	41	0.1132596685082873	1	0.0017482517482517483	70	0.09234828496042216	G	11.23	1.577265	0.28092	0.0202	0.091512	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.16196	2.7;2.36;2.55	5.68	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.071468	0.64402	D	0.000018	T	0.00356	0.0011	L	0.52011	1.625	0.09310	P	0.9999999999804431	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.08055	0.001;0.003;0.002	T	0.11842	-1.0571	9	0.20046	T	0.44	.	16.8329	0.85949	0.0:0.1285:0.8715:0.0	rs16925347;rs52833498;rs16925347	176;269;284	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	A	284;176;269	ENSP00000265866:G284A;ENSP00000409869:G176A;ENSP00000346726:G269A	ENSP00000265866:G284A	G	+	2	0	HNRNPH3	69771423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.872000	0.56085	1.390000	0.46547	0.563000	0.77884	GGC	G|0.943;C|0.057	0.057	strong		0.368	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			C	70101417	G	C	70101417	3	2	22	1	0	0	0	0	1	0	0	0	7268	1203	42	4	877	4	HNRNPH3	10	70101417	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57386	70101417	65433330	5594	10702										
DNA2	1763	hgsc.bcm.edu	37	chr10	70218890	70218890	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatctgagggaagtcagtCgaagtgtttttatgcatgaa	12	5	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70218890C>T	ENST00000358410.3	-	5	740	c.690G>A	c.(688-690)tcG>tcA	p.S230S	RNA5SP319_ENST00000362768.1_RNA|DNA2_ENST00000399179.2_Silent_p.S230S|DNA2_ENST00000399180.2_Silent_p.S316S	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	230	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GGAAGTCAGTCGAAGTGTTTT	0.358																																					p.S230S		Atlas-SNP	.											DNA2L,NS,carcinoma,-1,4	DNA2	76	4	0			c.G690A						PASS	.						88	78	81					10																	70218890		1845	4099	5944	SO:0001819	synonymous_variant	1763	exon5			GTCAGTCGAAGTG	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.690G>A	10.37:g.70218890C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	103	5	0.0485437	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37																																																																																				.	.	none		0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			T	70218890	C	T	70218890	2	4	22	1	0	0	0	0	0	0	0	1	4596	871	31	1		1	DNA2	10	70218890	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117473	70218890	65315857	5595	10703										
DNA2	1763	hgsc.bcm.edu	37	chr10	70225504	70225504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcaaagctattatttatGgctttttgaaacacctcatg	9	7	1	1	rs3758626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70225504G>T	ENST00000358410.3	-	4	557	c.507C>A	c.(505-507)gcC>gcA	p.A169A	DNA2_ENST00000399179.2_Silent_p.A169A|DNA2_ENST00000399180.2_Silent_p.A255A	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	169	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TATTATTTATGGCTTTTTGAA	0.358													T|||	1835	0.366414	0.4554	0.3545	5008	,	,		15821	0.379		0.2087	False		,,,				2504	0.4039				p.A169A		Atlas-SNP	.											.	DNA2	76	.	0			c.C507A						PASS	.	T		1561,2093		339,883,605	67	63	64		507	0.6	0.9	10	dbSNP_107	64	1702,6474		188,1326,2574	no	coding-synonymous	DNA2	NM_001080449.2		527,2209,3179	TT,TG,GG		20.817,42.7203,27.5824		169/1061	70225504	3263,8567	1827	4088	5915	SO:0001819	synonymous_variant	1763	exon4			ATTTATGGCTTTT	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.507C>A	10.37:g.70225504G>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37																																																																																				G|0.672;T|0.328	0.328	strong		0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			T	70225504	G	T	70225504	2	4	22	1	0	0	0	0	0	0	0	1	4596	1335	47	4		4	DNA2	10	70225504	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6614	70225504	65309243	5596	10704										
TET1	80312	hgsc.bcm.edu	37	chr10	70332672	70332672	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagacaactcagttttggTcccaaagagttgaggattcc	10	8	1	3	rs12773594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70332672T>A	ENST00000373644.4	+	2	786	c.577T>A	c.(577-579)Tcc>Acc	p.S193T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	193			S -> T (in dbSNP:rs12773594).		chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAGTTTTGGTCCCAAAGAGT	0.478													T|||	860	0.171725	0.0983	0.1513	5008	,	,		20171	0.1726		0.1849	False		,,,				2504	0.271				p.S193T		Atlas-SNP	.											.	TET1	255	.	0			c.T577A						PASS	.	T	THR/SER	494,3912	227.2+/-242.5	28,438,1737	61	61	61		577	2.5	0.7	10	dbSNP_121	61	1291,7309	252.3+/-278.5	105,1081,3114	yes	missense	TET1	NM_030625.2	58	133,1519,4851	AA,AT,TT		15.0116,11.212,13.7244	benign	193/2137	70332672	1785,11221	2203	4300	6503	SO:0001583	missense	80312	exon2			TTTTGGTCCCAAA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.577T>A	10.37:g.70332672T>A	ENSP00000362748:p.Ser193Thr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	59	23	0.38983	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	344	0.1575091575091575	29	0.05894308943089431	64	0.17679558011049723	111	0.19405594405594406	140	0.18469656992084432	T	11.91	1.780553	0.31502	0.11212	0.150116	ENSG00000138336	ENST00000373644	T	0.07688	3.17	5.0	2.55	0.30701	.	1.544370	0.04021	N	0.299769	T	0.00012	0.0000	N	0.24115	0.695	0.53005	P	3.6000000000036E-5	P	0.43477	0.808	B	0.29785	0.107	T	0.46062	-0.9218	9	0.27785	T	0.31	.	6.9496	0.24538	0.0:0.1915:0.0:0.8085	rs12773594;rs52825337;rs12773594	193	Q8NFU7	TET1_HUMAN	T	193	ENSP00000362748:S193T	ENSP00000362748:S193T	S	+	1	0	TET1	70002678	0.006000	0.16342	0.655000	0.29622	0.917000	0.54804	-0.025000	0.12413	0.301000	0.22738	0.460000	0.39030	TCC	T|0.854;A|0.146	0.146	strong		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		A	70332672	T	A	70332672	3	1	22	1	0	0	0	0	1	0	0	0	15766	1667	58	5	579	5	TET1	10	70332672	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	107168	70332672	65202075	5597	10705										
TET1	80312	hgsc.bcm.edu	37	chr10	70406747	70406747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaaagattctgaactgcccAcctgcagctgtcttggtgag	10	11	2	3	rs144156611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70406747A>G	ENST00000373644.4	+	4	4470	c.4261A>G	c.(4261-4263)Acc>Gcc	p.T1421A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1421					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGAACTGCCCACCTGCAGCTG	0.368													A|||	43	0.00858626	0.0008	0.0504	5008	,	,		19982	0.0		0.005	False		,,,				2504	0.002				p.T1421A		Atlas-SNP	.											.	TET1	255	.	0			c.A4261G						PASS	.	A	ALA/THR	4,4402	8.1+/-20.4	0,4,2199	61	58	59		4261	-10.4	0	10	dbSNP_134	59	39,8561	24.6+/-71.5	0,39,4261	yes	missense	TET1	NM_030625.2	58	0,43,6460	GG,GA,AA		0.4535,0.0908,0.3306	benign	1421/2137	70406747	43,12963	2203	4300	6503	SO:0001583	missense	80312	exon4			CTGCCCACCTGCA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4261A>G	10.37:g.70406747A>G	ENSP00000362748:p.Thr1421Ala	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	127	54	0.425197	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	22	0.010073260073260074	0	0.0	19	0.052486187845303865	0	0.0	3	0.00395778364116095	A	11.19	1.565969	0.27915	9.08E-4	0.004535	ENSG00000138336	ENST00000373644	T	0.20881	2.04	5.22	-10.4	0.00318	TET cysteine-rich domain (1);	2.737390	0.01161	N	0.006653	T	0.01661	0.0053	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14392	-1.0474	10	0.66056	D	0.02	.	0.6454	0.00817	0.1857:0.2739:0.184:0.3564	.	1421	Q8NFU7	TET1_HUMAN	A	1421	ENSP00000362748:T1421A	ENSP00000362748:T1421A	T	+	1	0	TET1	70076753	0.001000	0.12720	0.000000	0.03702	0.862000	0.49288	-0.836000	0.04382	-2.685000	0.00406	0.455000	0.32223	ACC	A|0.995;G|0.005	0.005	strong		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70406747	A	G	70406747	3	3	22	1	0	0	0	0	1	0	0	0	15766	159	6	2	4271	2	TET1	10	70406747	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74075	70406747	65128000	5598	10706										
CCAR1	55749	hgsc.bcm.edu	37	chr10	70549579	70549579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaaaacttaaagatttcGgaaaacatgaatttacaatt	5	5	0	3	rs11594683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70549579G>A	ENST00000265872.6	+	24	3419	c.3300G>A	c.(3298-3300)tcG>tcA	p.S1100S	CCAR1_ENST00000535016.1_Silent_p.S1085S|CCAR1_ENST00000543719.1_Silent_p.S1085S	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1100					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAAAGATTTCGGAAAACATGA	0.328													G|||	203	0.0405351	0.0408	0.0634	5008	,	,		11157	0.006		0.0596	False		,,,				2504	0.0399				p.S1100S		Atlas-SNP	.											.	CCAR1	118	.	0			c.G3300A						PASS	.	G		152,4254	98.9+/-137.6	3,146,2054	49	53	52		3300	3.4	1	10	dbSNP_120	52	556,8018	148.9+/-204.1	18,520,3749	no	coding-synonymous	CCAR1	NM_018237.2		21,666,5803	AA,AG,GG		6.4847,3.4498,5.4545		1100/1151	70549579	708,12272	2203	4287	6490	SO:0001819	synonymous_variant	55749	exon24			GATTTCGGAAAAC	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3300G>A	10.37:g.70549579G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	166	69	0.415663	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																			G|0.947;A|0.053	0.053	strong		0.328	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		A	70549579	G	A	70549579	2	1	22	1	0	0	0	0	0	0	0	1	2730	1103	39	1		1	CCAR1	10	70549579	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	142832	70549579	64985168	5599	10707										
STOX1	219736	hgsc.bcm.edu	37	chr10	70646139	70646139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attactatagcgcaagaaaaGccagttttgaagctgaagtc	9	7	0	3	rs7904300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70646139G>A	ENST00000298596.6	+	3	2670	c.2587G>A	c.(2587-2589)Gcc>Acc	p.A863T	STOX1_ENST00000421961.2_Missense_Mutation_p.A753T|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.A863T|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	863			A -> T (in dbSNP:rs7904300).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CGCAAGAAAAGCCAGTTTTGA	0.423													G|||	145	0.0289537	0.1014	0.0144	5008	,	,		20639	0.0		0.001	False		,,,				2504	0.0				p.A863T		Atlas-SNP	.											.	STOX1	75	.	0			c.G2587A						PASS	.	G	,,THR/ALA,THR/ALA,THR/ALA	385,3671		22,341,1665	81	81	81		,,2587,2257,2587	-1.5	0	10	dbSNP_116	81	4,8436		0,4,4216	yes	intron,intron,missense,missense,missense	STOX1	NM_001130159.2,NM_001130160.2,NM_001130161.2,NM_001130162.2,NM_152709.4	,,58,58,58	22,345,5881	AA,AG,GG		0.0474,9.4921,3.113	,,benign,benign,benign	,,863/990,753/880,863/990	70646139	389,12107	2028	4220	6248	SO:0001583	missense	219736	exon3			AGAAAAGCCAGTT	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2587G>A	10.37:g.70646139G>A	ENSP00000298596:p.Ala863Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	105	42	0.4	NM_152709	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	56	0.02564102564102564	52	0.10569105691056911	4	0.011049723756906077	0	0.0	0	0.0	G	7.158	0.585121	0.13749	0.094921	4.74E-4	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.66815	-0.23;-0.23;-0.23	6.17	-1.51	0.08664	.	0.471664	0.25324	N	0.031488	T	0.01695	0.0054	L	0.56769	1.78	0.80722	P	0.0	B	0.19445	0.036	B	0.17098	0.017	T	0.09618	-1.0666	9	0.46703	T	0.11	.	7.4728	0.27359	0.2424:0.2162:0.5415:0.0	rs7904300;rs52803686;rs7904300	863	Q6ZVD7	STOX1_HUMAN	T	863;863;753	ENSP00000382121:A863T;ENSP00000298596:A863T;ENSP00000394509:A753T	ENSP00000298596:A863T	A	+	1	0	STOX1	70316145	0.119000	0.22226	0.000000	0.03702	0.006000	0.05464	0.598000	0.24074	-0.561000	0.06094	0.655000	0.94253	GCC	G|0.968;A|0.032	0.032	strong		0.423	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		A	70646139	G	A	70646139	3	1	22	1	0	0	0	0	1	0	0	0	15318	971	34	2	2597	2	STOX1	10	70646139	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96560	70646139	64888608	5600	10708										
KIAA1279	26128	hgsc.bcm.edu	37	chr10	70775329	70775329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcttgatcttgataaacaGtctgaacttagagctttaag	9	6	2	4	rs16926021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70775329G>A	ENST00000361983.4	+	7	1125	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	341					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGATAAACAGTCTGAACTTA	0.373													G|||	306	0.0611022	0.2148	0.0303	5008	,	,		18364	0.0		0.001	False		,,,				2504	0.0				p.Q341Q		Atlas-SNP	.											.	KIAA1279	35	.	0			c.G1023A						PASS	.	G		817,3589	310.2+/-291.5	78,661,1464	78	82	80		1023	-2	0.9	10	dbSNP_123	80	11,8589	5.7+/-21.5	0,11,4289	no	coding-synonymous	KIAA1279	NM_015634.3		78,672,5753	AA,AG,GG		0.1279,18.5429,6.3663		341/622	70775329	828,12178	2203	4300	6503	SO:0001819	synonymous_variant	26128	exon7			TAAACAGTCTGAA	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1023G>A	10.37:g.70775329G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	52	24	0.461538	NM_015634	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	37	CCDS7284.1																																																																																			G|0.946;A|0.054	0.054	strong		0.373	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		A	70775329	G	A	70775329	2	1	22	1	0	0	0	0	0	0	0	1	8221	1020	36	2		2	KIAA1279	10	70775329	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129190	70775329	64759418	5601	10709										
SRGN	5552	hgsc.bcm.edu	37	chr10	70863699	70863699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggatcaggcttcggctcCggctccggctctggatcagg	14	13	4	0	rs4892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70863699C>T	ENST00000242465.3	+	3	340	c.300C>T	c.(298-300)tcC>tcT	p.S100S	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	100	9 X 2 AA tandem repeats of [SF]-G.				biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GCTTCGGCTCCGGCTCCGGCT	0.463													C|||	430	0.0858626	0.2663	0.049	5008	,	,		16308	0.0367		0.004	False		,,,				2504	0.0031				p.S100S		Atlas-SNP	.											SRGN,mouth,carcinoma,+1,1	SRGN	15	1	0			c.C300T						PASS	.	C		1043,3363	384.0+/-325.1	122,799,1282	74	68	70		300	-7.3	0.5	10	dbSNP_52	70	14,8586	9.1+/-34.3	0,14,4286	no	coding-synonymous	SRGN	NM_002727.2		122,813,5568	TT,TC,CC		0.1628,23.6723,8.127		100/159	70863699	1057,11949	2203	4300	6503	SO:0001819	synonymous_variant	5552	exon3			CGGCTCCGGCTCC	BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"Proteoglycans / Extracellular Matrix : Other"	9361	protein-coding gene	gene with protein product	"serglycin proteoglycan"	177040	"proteoglycan 1, secretory granule"	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.300C>T	10.37:g.70863699C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	93	40	0.430108	NM_002727	B2R4L7|Q5VW06	Silent	SNP	ENST00000242465.3	37	CCDS7285.1																																																																																			C|0.925;T|0.075	0.075	strong		0.463	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727		T	70863699	C	T	70863699	2	4	22	1	0	0	0	0	0	0	0	1	15147	639	23	1		1	SRGN	10	70863699	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88370	70863699	64671048	5602	10710										
SUPV3L1	6832	hgsc.bcm.edu	37	chr10	70940052	70940052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacctgcggcctcgatgtCcttctcccgtgccctattgt	9	15	1	1	rs33998366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70940052C>T	ENST00000359655.4	+	1	65	c.5C>T	c.(4-6)tCc>tTc	p.S2F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	2			S -> F (in dbSNP:rs33998366).		ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTCGATGTCCTTCTCCCGT	0.692													C|||	218	0.0435304	0.1573	0.013	5008	,	,		16089	0.0		0.001	False		,,,				2504	0.0				p.S2F		Atlas-SNP	.											.	SUPV3L1	61	.	0			c.C5T						PASS	.	C	PHE/SER	537,3867	208.5+/-229.5	33,471,1698	25	29	28		5	4.9	1	10	dbSNP_126	28	2,8596	2.2+/-6.3	0,2,4297	yes	missense	SUPV3L1	NM_003171.3	155	33,473,5995	TT,TC,CC		0.0233,12.1935,4.1455	probably-damaging	2/787	70940052	539,12463	2202	4299	6501	SO:0001583	missense	6832	exon1			CGATGTCCTTCTC	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.5C>T	10.37:g.70940052C>T	ENSP00000352678:p.Ser2Phe	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	52	24	0.461538	NM_003171	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	89	0.04075091575091575	81	0.16463414634146342	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	22.0	4.227112	0.79576	0.121935	2.33E-4	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.35973	1.43;1.28	5.78	4.88	0.63580	.	0.080168	0.50627	N	0.000116	T	0.00073	0.0002	N	0.22421	0.69	0.31663	N	0.645286	P	0.35077	0.483	B	0.33392	0.163	T	0.02789	-1.1110	10	0.87932	D	0	-0.6733	8.3656	0.32385	0.1559:0.7643:0.0:0.0797	rs33998366	2	Q8IYB8	SUV3_HUMAN	F	2	ENSP00000352678:S2F;ENSP00000409072:S2F	ENSP00000352678:S2F	S	+	2	0	SUPV3L1	70610058	0.672000	0.27530	1.000000	0.80357	0.919000	0.55068	1.022000	0.30052	2.729000	0.93468	0.655000	0.94253	TCC	C|0.961;T|0.039	0.039	strong		0.692	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		T	70940052	C	T	70940052	3	4	22	1	0	0	0	0	1	0	0	0	15399	855	30	2	7	2	SUPV3L1	10	70940052	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76353	70940052	64594695	5603	10711										
SUPV3L1	6832	hgsc.bcm.edu	37	chr10	70940066	70940066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatgtccttctcccgtgccCtattgtgggctcggctcccg	11	16	1	0	rs12251842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70940066C>T	ENST00000359655.4	+	1	79	c.19C>T	c.(19-21)Cta>Tta	p.L7L	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	7					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCGTGCCCTATTGTGGGC	0.706													C|||	232	0.0463259	0.1672	0.0144	5008	,	,		16416	0.0		0.001	False		,,,				2504	0.0				p.L7L		Atlas-SNP	.											.	SUPV3L1	61	.	0			c.C19T						PASS	.	C		575,3829	214.1+/-233.5	41,493,1668	25	29	28		19	0.8	0.6	10	dbSNP_120	28	4,8594	2.2+/-6.3	0,4,4295	no	coding-synonymous	SUPV3L1	NM_003171.3		41,497,5963	TT,TC,CC		0.0465,13.0563,4.4532		7/787	70940066	579,12423	2202	4299	6501	SO:0001819	synonymous_variant	6832	exon1			CGTGCCCTATTGT	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.19C>T	10.37:g.70940066C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	62	27	0.435484	NM_003171	A8K301|O43630	Silent	SNP	ENST00000359655.4	37	CCDS7287.1																																																																																			C|0.962;T|0.038	0.038	strong		0.706	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		T	70940066	C	T	70940066	2	4	22	1	0	0	0	0	0	0	0	1	15399	680	24	2		2	SUPV3L1	10	70940066	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	70940066	64594681	5604	10712										
HKDC1	80201	hgsc.bcm.edu	37	chr10	70980243	70980243	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaagctgaaggaggacCagatcaagaaggtaaggagg	15	6	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:70980243C>A	ENST00000354624.5	+	1	185	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	HKDC1_ENST00000395086.2_Missense_Mutation_p.Q18K|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	18	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGGAGGACCAGATCAAGAA	0.468																																					p.Q18K		Atlas-SNP	.											.	HKDC1	98	.	0			c.C52A						PASS	.						81	76	78					10																	70980243		2203	4300	6503	SO:0001583	missense	80201	exon1			GAGGACCAGATCA		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.52C>A	10.37:g.70980243C>A	ENSP00000346643:p.Gln18Lys	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270551	0.59540	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98968	-5.28;-5.28	5.44	5.44	0.79542	Hexokinase, N-terminal (1);	0.149729	0.47093	D	0.000250	D	0.98232	0.9415	M	0.86740	2.835	0.54753	D	0.99998	B	0.14438	0.01	B	0.20184	0.028	D	0.98393	1.0564	10	0.25106	T	0.35	-10.1756	19.279	0.94044	0.0:1.0:0.0:0.0	.	18	Q2TB90	HKDC1_HUMAN	K	18	ENSP00000346643:Q18K;ENSP00000378521:Q18K	ENSP00000346643:Q18K	Q	+	1	0	HKDC1	70650249	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.339000	0.79282	2.554000	0.86153	0.655000	0.94253	CAG	.	.	none		0.468	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		A	70980243	C	A	70980243	3	1	22	1	0	0	0	0	1	0	0	0	7193	595	21	4	54	4	HKDC1	10	70980243	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40177	70980243	64554504	5605	10713										
TACR2	6865	hgsc.bcm.edu	37	chr10	71167027	71167027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaccaccagcaccatggTcttcacaaactggtccagga	8	15	2	0	rs142415572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:71167027T>C	ENST00000373306.4	-	4	1294	c.751A>G	c.(751-753)Acc>Gcc	p.T251A	TACR2_ENST00000373307.1_Missense_Mutation_p.T39A	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	251					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AGCACCATGGTCTTCACAAAC	0.587													T|||	81	0.0161741	0.0567	0.0086	5008	,	,		17645	0.0		0.0	False		,,,				2504	0.0				p.T251A		Atlas-SNP	.											.	TACR2	37	.	0			c.A751G						PASS	.	T	ALA/THR	263,4143	150.7+/-184.7	8,247,1948	152	129	137		751	3.6	1	10	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TACR2	NM_001057.2	58	8,248,6247	CC,CT,TT		0.0116,5.9691,2.0298	benign	251/399	71167027	264,12742	2203	4300	6503	SO:0001583	missense	6865	exon4			CCATGGTCTTCAC		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.751A>G	10.37:g.71167027T>C	ENSP00000362403:p.Thr251Ala	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	170	87	0.511765	NM_001057	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	CCDS7293.1	25	0.011446886446886446	23	0.046747967479674794	2	0.0055248618784530384	0	0.0	0	0.0	T	15.05	2.719253	0.48728	0.059691	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.38722	1.12;1.12	5.11	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.240149	0.42964	N	0.000624	T	0.06005	0.0156	M	0.65677	2.01	0.29494	N	0.855447	B	0.10296	0.003	B	0.15484	0.013	T	0.12967	-1.0527	10	0.56958	D	0.05	.	9.0838	0.36567	0.0:0.1185:0.0:0.8815	.	251	P21452	NK2R_HUMAN	A	39;251	ENSP00000362404:T39A;ENSP00000362403:T251A	ENSP00000362403:T251A	T	-	1	0	TACR2	70837033	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.251000	0.72441	0.541000	0.28827	0.454000	0.30748	ACC	T|0.979;C|0.021	0.021	strong		0.587	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			C	71167027	T	C	71167027	3	2	22	1	0	0	0	0	1	0	0	0	15503	1667	58	2	453	2	TACR2	10	71167027	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	186784	71167027	64367720	5606	10714										
NEUROG3	50674	hgsc.bcm.edu	37	chr10	71332480	71332480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaggtgggcaggacaccgCgcagggcgtccagtgccgag	19	11	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:71332480C>T	ENST00000242462.4	-	2	349	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> S (in DIAR4; attenuated NEUROG3 function in vivo). {ECO:0000269|PubMed:16855267}.		central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CAGGACACCGCGCAGGGCGTC	0.627																																					p.R107H		Atlas-SNP	.											NEUROG3,NS,carcinoma,+1,1	NEUROG3	33	1	0			c.G320A						scavenged	.						96	66	76					10																	71332480		2203	4300	6503	SO:0001583	missense	50674	exon2			ACACCGCGCAGGG	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.320G>A	10.37:g.71332480C>T	ENSP00000242462:p.Arg107His	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	275	3	0.0109091	NM_020999	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182012	0.94885	.	.	ENSG00000122859	ENST00000242462	D	0.98717	-5.09	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.40640	N	0.001046	D	0.99435	0.9800	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98206	1.0470	10	0.87932	D	0	-21.6233	15.9925	0.80217	0.0:1.0:0.0:0.0	.	107	Q9Y4Z2	NGN3_HUMAN	H	107	ENSP00000242462:R107H	ENSP00000242462:R107H	R	-	2	0	NEUROG3	71002486	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.516000	0.81772	2.307000	0.77673	0.591000	0.81541	CGC	.	.	none		0.627	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		T	71332480	C	T	71332480	3	4	22	1	0	0	0	0	1	0	0	0	10354	768	27	1	328	1	NEUROG3	10	71332480	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	165453	71332480	64202267	5607	10715										
EIF4EBP2	1979	hgsc.bcm.edu	37	chr10	72179746	72179746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagaccccaccctgccaCctgcccaatatcccaggagt	7	19	1	1	rs1043098	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72179746C>T	ENST00000373218.4	+	2	245	c.222C>T	c.(220-222)caC>caT	p.H74H		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	74					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						CACCCTGCCACCTGCCCAATA	0.448													T|||	2568	0.51278	0.4266	0.4712	5008	,	,		17456	0.7272		0.4612	False		,,,				2504	0.4908				p.H74H		Atlas-SNP	.											.	EIF4EBP2	7	.	0			c.C222T						PASS	.	T		1858,2548	633.8+/-396.1	400,1058,745	85	84	84		222	1.3	1	10	dbSNP_86	84	4213,4387	583.0+/-391.5	1028,2157,1115	no	coding-synonymous	EIF4EBP2	NM_004096.4		1428,3215,1860	TT,TC,CC		48.9884,42.1698,46.6785		74/121	72179746	6071,6935	2203	4300	6503	SO:0001819	synonymous_variant	1979	exon2			CTGCCACCTGCCC		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.222C>T	10.37:g.72179746C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_004096		Silent	SNP	ENST00000373218.4	37	CCDS7303.1																																																																																			C|0.528;T|0.472	0.472	strong		0.448	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096		T	72179746	C	T	72179746	2	4	22	1	0	0	0	0	0	0	0	1	5033	506	18	2		2	EIF4EBP2	10	72179746	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	847266	72179746	63355001	5608	10716										
KIAA1274	27143	hgsc.bcm.edu	37	chr10	72294192	72294192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcgacagggctgcccccaCgcaggccaagcccctgccta	10	20	0	0	rs141167395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72294192C>T	ENST00000263563.6	+	9	1302	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	345						cytosol (GO:0005829)											GCTGCCCCCACGCAGGCCAAG	0.622													C|||	6	0.00119808	0.0038	0.0	5008	,	,		16332	0.001		0.0	False		,,,				2504	0.0				p.T345M		Atlas-SNP	.											.	.	.	.	0			c.C1034T						PASS	.	C	MET/THR	13,4391	20.2+/-43.8	0,13,2189	38	35	36		1034	-4	0	10	dbSNP_134	36	0,8598		0,0,4299	yes	missense	KIAA1274	NM_014431.2	81	0,13,6488	TT,TC,CC		0.0,0.2952,0.1	benign	345/857	72294192	13,12989	2202	4299	6501	SO:0001583	missense	27143	exon9			CCCCCACGCAGGC	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1034C>T	10.37:g.72294192C>T	ENSP00000263563:p.Thr345Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	92	40	0.434783	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	9.315	1.056639	0.19907	0.002952	0.0	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.24908	1.83	4.62	-3.99	0.04069	.	1.808830	0.02724	N	0.114334	T	0.13628	0.0330	N	0.11201	0.11	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.23619	-1.0183	10	0.45353	T	0.12	0.2671	6.7714	0.23596	0.1154:0.3697:0.0:0.5148	.	345	Q9ULE6	PALD_HUMAN	M	345	ENSP00000263563:T345M	ENSP00000263563:T345M	T	+	2	0	KIAA1274	71964198	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.206000	0.01231	-1.208000	0.02634	-0.448000	0.05591	ACG	C|0.999;T|0.001	0.001	strong		0.622	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		T	72294192	C	T	72294192	3	4	22	1	0	0	0	0	1	0	0	0	8220	536	19	1	1064	1	KIAA1274	10	72294192	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	114446	72294192	63240555	5609	10717										
KIAA1274	27143	hgsc.bcm.edu	37	chr10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgaaggcagcgaaagaggCgcaagaaatgcggaggctgc	18	8	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72324139C>T	ENST00000263563.6	+	19	2550	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	761						cytosol (GO:0005829)											GCGAAAGAGGCGCAAGAAATG	0.617																																					p.A761V		Atlas-SNP	.											KIAA1274,NS,carcinoma,-1,1	.	.	1	0			c.C2282T						PASS	.						77	75	76					10																	72324139		2203	4300	6503	SO:0001583	missense	27143	exon19			AAGAGGCGCAAGA	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2282C>T	10.37:g.72324139C>T	ENSP00000263563:p.Ala761Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	135	60	0.444444	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	10.63	1.404595	0.25378	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.9	2.42	0.29668	.	0.426837	0.24803	N	0.035474	T	0.24547	0.0595	L	0.47716	1.5	0.26423	N	0.976068	B	0.18610	0.029	B	0.12156	0.007	T	0.16158	-1.0412	10	0.40728	T	0.16	-12.6907	8.4465	0.32845	0.3575:0.52:0.0:0.1225	.	761	Q9ULE6	PALD_HUMAN	V	761;737	ENSP00000263563:A761V	ENSP00000263563:A761V	A	+	2	0	KIAA1274	71994145	1.000000	0.71417	0.147000	0.22382	0.613000	0.37349	1.533000	0.36040	0.168000	0.19655	-0.410000	0.06199	GCG	.	.	none		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		T	72324139	C	T	72324139	3	4	22	1	0	0	0	0	1	0	0	0	8220	768	27	1	2352	1	KIAA1274	10	72324139	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29947	72324139	63210608	5610	10718										
PRF1	5551	hgsc.bcm.edu	37	chr10	72358407	72358407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccctcctcagtgcctccCgccgcgggtcctggctgtcc	13	19	1	0	rs140787739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72358407C>T	ENST00000441259.1	-	3	1230	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R357Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	357	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CAGTGCCTCCCGCCGCGGGTC	0.697			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				C|||	2	0.000399361	0.0008	0.0	5008	,	,		16023	0.0		0.0	False		,,,				2504	0.001				p.R357Q		Atlas-SNP	.	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	PRF1,caecum,carcinoma,-1,1	PRF1	64	1	0			c.G1070A						PASS	.	C	GLN/ARG,GLN/ARG	5,4399		0,5,2197	19	23	22		1070,1070	4.9	1	10	dbSNP_134	22	2,8588		0,2,4293	yes	missense,missense	PRF1	NM_001083116.1,NM_005041.4	43,43	0,7,6490	TT,TC,CC		0.0233,0.1135,0.0539	probably-damaging,probably-damaging	357/556,357/556	72358407	7,12987	2202	4295	6497	SO:0001583	missense	5551	exon3	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GCCTCCCGCCGCG	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1070G>A	10.37:g.72358407C>T	ENSP00000398568:p.Arg357Gln	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001083116	B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547379	0.65311	0.001135	2.33E-4	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.85013	-1.93;-1.93	5.83	4.92	0.64577	Membrane attack complex component/perforin (MACPF) domain (3);	0.263415	0.37669	N	0.001991	D	0.88463	0.6443	M	0.66378	2.025	0.41451	D	0.987985	D	0.76494	0.999	P	0.61940	0.896	D	0.87239	0.2265	10	0.44086	T	0.13	-49.1524	7.9431	0.29969	0.0:0.8314:0.0:0.1686	.	357	P14222	PERF_HUMAN	Q	357	ENSP00000362305:R357Q;ENSP00000398568:R357Q	ENSP00000316746:R357Q	R	-	2	0	PRF1	72028413	0.050000	0.20438	0.966000	0.40874	0.070000	0.16714	0.384000	0.20668	2.741000	0.93983	0.655000	0.94253	CGG	C|0.999;T|0.001	0.001	strong		0.697	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		T	72358407	C	T	72358407	3	4	22	1	0	0	0	0	1	0	0	0	12478	652	23	1	601	1	PRF1	10	72358407	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34268	72358407	63176340	5611	10719										
PRF1	5551	hgsc.bcm.edu	37	chr10	72358577	72358577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccgccaaccacttccgaGtggcgctcccggtaggtttg	13	14	0	0	rs885822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72358577G>A	ENST00000441259.1	-	3	1060	c.900C>T	c.(898-900)caC>caT	p.H300H	PRF1_ENST00000373209.2_Silent_p.H300H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	300	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCACTTCCGAGTGGCGCTCCC	0.612			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				A|||	3485	0.695887	0.8381	0.6427	5008	,	,		19157	0.7341		0.5885	False		,,,				2504	0.6125				p.H300H		Atlas-SNP	.	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	.	PRF1	64	.	0			c.C900T						PASS	.	A	,	3504,902	348.7+/-310.1	1397,710,96	182	125	144		900,900	-11.7	0	10	dbSNP_86	144	5111,3489	509.6+/-377.3	1534,2043,723	no	coding-synonymous,coding-synonymous	PRF1	NM_001083116.1,NM_005041.4	,	2931,2753,819	AA,AG,GG		40.5698,20.4721,33.7613	,	300/556,300/556	72358577	8615,4391	2203	4300	6503	SO:0001819	synonymous_variant	5551	exon3	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TTCCGAGTGGCGC	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.900C>T	10.37:g.72358577G>A		Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	272	122	0.448529	NM_001083116	B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	CCDS7305.1																																																																																			G|0.316;A|0.684	0.684	strong		0.612	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		A	72358577	G	A	72358577	2	1	22	1	0	0	0	0	0	0	0	1	12478	1020	36	2		2	PRF1	10	72358577	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	170	72358577	63176170	5612	10720										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72500863	72500863	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgtgccaagcgcaactcCtactatgtgcaccagaatgc	9	13	0	1	rs10999500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72500863C>G	ENST00000373207.1	+	12	1869	c.1869C>G	c.(1867-1869)tcC>tcG	p.S623S	ADAMTS14_ENST00000373208.1_Silent_p.S626S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	623	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGCGCAACTCCTACTATGTGC	0.612													C|||	3341	0.667133	0.6498	0.5663	5008	,	,		20631	0.8571		0.6113	False		,,,				2504	0.6237				p.S626S		Atlas-SNP	.											.	ADAMTS14	148	.	0			c.C1878G						PASS	.	C	,	2866,1540	670.9+/-402.4	928,1010,265	75	64	68		1869,1878	3.4	1	10	dbSNP_120	68	5173,3427	638.3+/-399.3	1572,2029,699	no	coding-synonymous,coding-synonymous	ADAMTS14	NM_080722.3,NM_139155.2	,	2500,3039,964	GG,GC,CC		39.8488,34.9523,38.1901	,	623/1224,626/1227	72500863	8039,4967	2203	4300	6503	SO:0001819	synonymous_variant	140766	exon12			CAACTCCTACTAT	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1869C>G	10.37:g.72500863C>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	126	56	0.444444	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																			C|0.339;G|0.661	0.661	strong		0.612	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		G	72500863	C	G	72500863	2	3	22	1	0	0	0	0	0	0	0	1	259	668	24	4		4	ADAMTS14	10	72500863	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	142286	72500863	63033884	5613	10721										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72517830	72517830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacactgtccaggtctgcaGcctgcccgcctgtggaggtg	14	13	1	1	rs10999516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72517830G>A	ENST00000373207.1	+	20	3050	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.S1020N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1017	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		S -> N (in dbSNP:rs10999516).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGGTCTGCAGCCTGCCCGCC	0.622													G|||	1069	0.213458	0.1543	0.2262	5008	,	,		18477	0.37		0.1849	False		,,,				2504	0.1524				p.S1020N		Atlas-SNP	.											.	ADAMTS14	148	.	0			c.G3059A						PASS	.	G	ASN/SER,ASN/SER	769,3637	307.5+/-290.0	67,635,1501	40	38	38		3050,3059	3.4	1	10	dbSNP_120	38	1384,7216	264.8+/-285.7	113,1158,3029	yes	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	46,46	180,1793,4530	AA,AG,GG		16.093,17.4535,16.5539	benign,benign	1017/1224,1020/1227	72517830	2153,10853	2203	4300	6503	SO:0001583	missense	140766	exon20			TCTGCAGCCTGCC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3050G>A	10.37:g.72517830G>A	ENSP00000362303:p.Ser1017Asn	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	85	30	0.352941	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	500	0.22893772893772893	75	0.1524390243902439	69	0.19060773480662985	213	0.3723776223776224	143	0.18865435356200527	G	11.65	1.702981	0.30232	0.174535	0.16093	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.52754	0.65;0.65	4.34	3.39	0.38822	.	0.482320	0.22699	N	0.056718	T	0.00012	0.0000	N	0.01640	-0.785	0.38674	P	0.047624	B;P	0.34699	0.019;0.464	B;B	0.39027	0.044;0.288	T	0.35773	-0.9775	9	0.10111	T	0.7	.	5.8642	0.18765	0.1314:0.0:0.6843:0.1842	rs10999516;rs57370271	1017;1020	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	1020;1017	ENSP00000362304:S1020N;ENSP00000362303:S1017N	ENSP00000362303:S1017N	S	+	2	0	ADAMTS14	72187836	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	2.373000	0.44266	2.250000	0.74265	0.561000	0.74099	AGC	G|0.824;A|0.176	0.176	strong		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72517830	G	A	72517830	3	1	22	1	0	0	0	0	1	0	0	0	259	971	34	2	3137	2	ADAMTS14	10	72517830	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16967	72517830	63016917	5614	10722										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72518009	72518009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtgggtgccacaatctgAacccctacatcccattaaca	7	14	1	1	rs4747096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72518009A>G	ENST00000373207.1	+	21	3146	c.3146A>G	c.(3145-3147)gAa>gGa	p.E1049G	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E1052G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1049			E -> G (in dbSNP:rs4747096).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCACAATCTGAACCCCTACAT	0.537													G|||	1092	0.218051	0.1694	0.2305	5008	,	,		21129	0.37		0.1849	False		,,,				2504	0.1524				p.E1052G		Atlas-SNP	.											.	ADAMTS14	148	.	0			c.A3155G						PASS	.	G	GLY/GLU,GLY/GLU	830,3576	746.6+/-411.8	76,678,1449	118	103	108		3146,3155	3	0	10	dbSNP_111	108	1387,7213	753.3+/-407.4	114,1159,3027	yes	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	98,98	190,1837,4476	GG,GA,AA		16.1279,18.8379,17.046	benign,benign	1049/1224,1052/1227	72518009	2217,10789	2203	4300	6503	SO:0001583	missense	140766	exon21			AATCTGAACCCCT	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3146A>G	10.37:g.72518009A>G	ENSP00000362303:p.Glu1049Gly	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	512	0.23443223443223443	85	0.17276422764227642	71	0.19613259668508287	213	0.3723776223776224	143	0.18865435356200527	G	3.106	-0.183744	0.06340	0.188379	0.161279	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61742	0.08;0.11	3.88	2.98	0.34508	.	0.684465	0.13976	N	0.349826	T	0.00012	0.0000	N	0.01219	-0.95	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41822	-0.9487	9	0.20519	T	0.43	.	4.9891	0.14205	0.1808:0.0:0.6537:0.1655	rs4747096;rs52814326;rs59944244;rs4747096	1049;1052	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	G	1052;1049	ENSP00000362304:E1052G;ENSP00000362303:E1049G	ENSP00000362303:E1049G	E	+	2	0	ADAMTS14	72188015	0.609000	0.26975	0.001000	0.08648	0.084000	0.17831	1.663000	0.37429	0.334000	0.23590	-0.974000	0.02594	GAA	A|0.804;G|0.196;N|0.001	0.196	strong		0.537	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		G	72518009	A	G	72518009	3	3	22	1	0	0	0	0	1	0	0	0	259	246	9	2	3237	2	ADAMTS14	10	72518009	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	179	72518009	63016738	5615	10723										
C10orf27	219793	hgsc.bcm.edu	37	chr10	72536936	72536936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgatcctgaaggaggaaAgcctggactccttcatgtct	10	11	2	2	rs2254433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72536936A>G	ENST00000299290.1	-	7	1052	c.663T>C	c.(661-663)gcT>gcC	p.A221A	TBATA_ENST00000456372.2_Silent_p.A221A	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	221					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											GAAGGAGGAAAGCCTGGACTC	0.617													G|||	1185	0.236621	0.3268	0.1571	5008	,	,		17113	0.1091		0.2863	False		,,,				2504	0.2515				p.A221A		Atlas-SNP	.											C10orf27,NS,carcinoma,-2,1	.	.	1	0			c.T663C						scavenged	.	G		1542,2864	671.3+/-402.5	266,1010,927	58	59	59		663	0.6	0	10	dbSNP_100	59	2545,6055	690.8+/-404.5	374,1797,2129	no	coding-synonymous	C10orf27	NM_152710.2		640,2807,3056	GG,GA,AA		29.593,34.9977,31.424		221/352	72536936	4087,8919	2203	4300	6503	SO:0001819	synonymous_variant	219793	exon7			GAGGAAAGCCTGG	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.663T>C	10.37:g.72536936A>G		Somatic	49	1	0.0204082		WXS	Illumina HiSeq	Phase_I	52	24	0.461538	NM_152710	A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	CCDS7308.1																																																																																			A|0.710;G|0.290	0.290	strong		0.617	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		G	72536936	A	G	72536936	2	3	22	1	0	0	0	0	0	0	0	1	1600	59	3	3		3	C10orf27	10	72536936	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18927	72536936	62997811	5616	10724										
UNC5B	219699	hgsc.bcm.edu	37	chr10	72972770	72972770	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggagcggagctcggggcGcgctgctgctggcactgctg					rs61757568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72972770G>T	ENST00000335350.6	+	1	444	c.28G>T	c.(28-30)Gcg>Tcg	p.A10S	AL359832.1_ENST00000401185.1_RNA|UNC5B_ENST00000373192.4_Missense_Mutation_p.A10S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	10					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCTCGGGGCGCGCTGCTGCT	0.751													g|||	77	0.0153754	0.0537	0.0072	5008	,	,		10768	0.0		0.001	False		,,,				2504	0.0				p.A10S		Atlas-SNP	.											.	UNC5B	123	.	0			c.G28T						PASS	.	G	SER/ALA	40,4190		3,34,2078	6	8	7		28	4.3	1	10	dbSNP_129	7	2,8392		0,2,4195	no	missense	UNC5B	NM_170744.4	99	3,36,6273	TT,TG,GG		0.0238,0.9456,0.3327	possibly-damaging	10/946	72972770	42,12582	2115	4197	6312	SO:0001583	missense	219699	exon1			CGGGGCGCGCTGC	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.28G>T	10.37:g.72972770G>T	ENSP00000334329:p.Ala10Ser	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_001244889	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	g	10.46	1.355935	0.24598	0.009456	2.38E-4	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48836	0.86;0.8	4.28	4.28	0.50868	.	0.385350	0.22088	U	0.064791	T	0.08358	0.0208	N	0.11560	0.145	0.29489	N	0.855747	P;P	0.50156	0.932;0.889	P;B	0.45167	0.472;0.281	T	0.01848	-1.1261	10	0.22109	T	0.4	-12.4358	12.2354	0.54512	0.0:0.0:1.0:0.0	rs61757568	10;10	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	10	ENSP00000334329:A10S;ENSP00000362288:A10S	ENSP00000334329:A10S	A	+	1	0	UNC5B	72642776	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	4.071000	0.57556	1.946000	0.56461	0.298000	0.19748	GCG	G|0.986;T|0.014	0.014	strong		0.751	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	72972770	G	T	72972770	3	4	22	1	0	0	0	0	1	0	0	0	16989	1087	38	4	30	4	UNC5B	10	72972770	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	435834	72972770	62561977	5617	10725	216	2								
UNC5B	219699	hgsc.bcm.edu	37	chr10	72972771	72972771	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggagcggagctcggggcgCgctgctgctggcactgctgc					rs61757569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:72972771C>T	ENST00000335350.6	+	1	445	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AL359832.1_ENST00000401185.1_RNA|UNC5B_ENST00000373192.4_Missense_Mutation_p.A10V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	10					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCTCGGGGCGCGCTGCTGCTG	0.746													c|||	77	0.0153754	0.0537	0.0072	5008	,	,		10870	0.0		0.001	False		,,,				2504	0.0				p.A10V		Atlas-SNP	.											.	UNC5B	123	.	0			c.C29T						PASS	.	C	VAL/ALA	40,4190		3,34,2078	6	8	7		29	2.5	1	10	dbSNP_129	7	2,8386		0,2,4192	yes	missense	UNC5B	NM_170744.4	64	3,36,6270	TT,TC,CC		0.0238,0.9456,0.3329	benign	10/946	72972771	42,12576	2115	4194	6309	SO:0001583	missense	219699	exon1			GGGGCGCGCTGCT	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.29C>T	10.37:g.72972771C>T	ENSP00000334329:p.Ala10Val	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_001244889	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	26	0.011904761904761904	22	0.044715447154471545	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	c	11.78	1.740401	0.30865	0.009456	2.38E-4	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48836	0.87;0.8	4.39	2.52	0.30459	.	0.385350	0.22088	U	0.064791	T	0.07638	0.0192	L	0.29908	0.895	0.30473	N	0.773157	B;B	0.20459	0.045;0.027	B;B	0.12837	0.008;0.003	T	0.08472	-1.0720	10	0.17832	T	0.49	-12.4358	6.2386	0.20776	0.0:0.771:0.0:0.229	rs61757569	10;10	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	10	ENSP00000334329:A10V;ENSP00000362288:A10V	ENSP00000334329:A10V	A	+	2	0	UNC5B	72642777	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	1.192000	0.32150	0.853000	0.35312	-0.701000	0.03672	GCG	C|0.986;T|0.014	0.014	strong		0.746	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	72972771	C	T	72972771	3	4	22	1	0	0	0	0	1	0	0	0	16989	768	27	1	31	1	UNC5B	10	72972771	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	72972771	62561976	5618	10726	216	2								
UNC5B	219699	hgsc.bcm.edu	37	chr10	73039594	73039594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggcactgattctggcagCgaggtgctccctgactcctt	12	13	1	2	rs80333477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73039594C>T	ENST00000335350.6	+	2	512	c.96C>T	c.(94-96)agC>agT	p.S32S	UNC5B_ENST00000373192.4_Silent_p.S32S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	32					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATTCTGGCAGCGAGGTGCTCC	0.657													C|||	79	0.0157748	0.0582	0.0029	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.0				p.S32S		Atlas-SNP	.											.	UNC5B	123	.	0			c.C96T						PASS	.	C		186,4220	118.8+/-156.5	4,178,2021	37	32	34		96	-3.5	0.3	10	dbSNP_132	34	0,8600		0,0,4300	no	coding-synonymous	UNC5B	NM_170744.4		4,178,6321	TT,TC,CC		0.0,4.2215,1.4301		32/946	73039594	186,12820	2203	4300	6503	SO:0001819	synonymous_variant	219699	exon2			TGGCAGCGAGGTG	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.96C>T	10.37:g.73039594C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	177	97	0.548023	NM_001244889	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	CCDS7309.1																																																																																			C|0.987;T|0.013	0.013	strong		0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73039594	C	T	73039594	2	4	22	1	0	0	0	0	0	0	0	1	16989	767	27	1		1	UNC5B	10	73039594	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66823	73039594	62495153	5619	10727										
UNC5B	219699	hgsc.bcm.edu	37	chr10	73051440	73051440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacataccctagcgatttcGcccgggacacccacttcctg	8	17	0	0	rs10509332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73051440G>A	ENST00000335350.6	+	10	1962	c.1546G>A	c.(1546-1548)Gcc>Acc	p.A516T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A505T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	516			A -> T (in dbSNP:rs10509332).		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TAGCGATTTCGCCCGGGACAC	0.682													g|||	174	0.0347444	0.0923	0.013	5008	,	,		16797	0.0		0.0169	False		,,,				2504	0.0266				p.A516T		Atlas-SNP	.											.	UNC5B	123	.	0			c.G1546A						PASS	.		THR/ALA	326,4080	175.9+/-205.1	12,302,1889	49	51	50		1546	-7.4	0	10	dbSNP_119	50	235,8363	96.3+/-158.1	3,229,4067	yes	missense	UNC5B	NM_170744.4	58	15,531,5956	AA,AG,GG		2.7332,7.399,4.3141	benign	516/946	73051440	561,12443	2203	4299	6502	SO:0001583	missense	219699	exon10			GATTTCGCCCGGG	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1546G>A	10.37:g.73051440G>A	ENSP00000334329:p.Ala516Thr	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	66	0.03021978021978022	44	0.08943089430894309	6	0.016574585635359115	0	0.0	16	0.021108179419525065	g	0.003	-2.576838	0.00131	0.07399	0.027332	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48836	0.86;0.8	3.71	-7.42	0.01388	.	1.034760	0.07589	N	0.921713	T	0.00754	0.0025	N	0.22421	0.69	0.09310	N	1	B;B	0.24483	0.104;0.063	B;B	0.15870	0.014;0.006	T	0.04128	-1.0975	10	0.14656	T	0.56	-3.517	0.8807	0.01233	0.1728:0.2213:0.3114:0.2946	rs10509332;rs10509332	505;516	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	516;505	ENSP00000334329:A516T;ENSP00000362288:A505T	ENSP00000334329:A516T	A	+	1	0	UNC5B	72721446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.641000	0.02007	-3.747000	0.00112	-2.851000	0.00103	GCC	G|0.960;A|0.040	0.040	strong		0.682	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		A	73051440	G	A	73051440	3	1	22	1	0	0	0	0	1	0	0	0	16989	1087	38	1	1584	1	UNC5B	10	73051440	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11846	73051440	62483307	5620	10728										
UNC5B	219699	hgsc.bcm.edu	37	chr10	73057755	73057755	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgccttcaagatcccactGtccatccgccagaagatatg	7	13	1	3	rs10823720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73057755G>C	ENST00000335350.6	+	16	2996	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L	UNC5B_ENST00000373192.4_Silent_p.L849L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	860					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGATCCCACTGTCCATCCGCC	0.577													G|||	330	0.0658946	0.0492	0.0072	5008	,	,		21886	0.1786		0.0089	False		,,,				2504	0.0726				p.L860L		Atlas-SNP	.											.	UNC5B	123	.	0			c.G2580C						PASS	.	G		191,4215	122.5+/-159.9	5,181,2017	137	100	113		2580	0.5	0.4	10	dbSNP_120	113	177,8423	81.8+/-144.4	1,175,4124	no	coding-synonymous	UNC5B	NM_170744.4		6,356,6141	CC,CG,GG		2.0581,4.335,2.8295		860/946	73057755	368,12638	2203	4300	6503	SO:0001819	synonymous_variant	219699	exon16			CCCACTGTCCATC	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2580G>C	10.37:g.73057755G>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	94	37	0.393617	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	CCDS7309.1																																																																																			G|0.964;C|0.036	0.036	strong		0.577	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		C	73057755	G	C	73057755	2	2	22	1	0	0	0	0	0	0	0	1	16989	1364	48	4		4	UNC5B	10	73057755	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6315	73057755	62476992	5621	10729										
SLC29A3	55315	hgsc.bcm.edu	37	chr10	73082563	73082563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagttcaaactccacctacAgaaccacaagcagcagtctc	5	15	2	1	rs2277257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73082563A>G	ENST00000373189.5	+	2	104	c.52A>G	c.(52-54)Aga>Gga	p.R18G	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	18			R -> G (in dbSNP:rs2277257). {ECO:0000269|PubMed:12975309}.		transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCCACCTACAGAACCACAAG	0.587													A|||	2350	0.469249	0.7005	0.3444	5008	,	,		19962	0.3601		0.4006	False		,,,				2504	0.4284				p.R18G	Esophageal Squamous(200;1319 2142 18949 31248 39672)	Atlas-SNP	.											.	SLC29A3	51	.	0			c.A52G						PASS	.	A	GLY/ARG,GLY/ARG	2802,1604	663.8+/-401.3	894,1014,295	128	129	129		52,52	1.2	0.4	10	dbSNP_100	129	3537,5063	515.4+/-378.6	725,2087,1488	yes	missense,missense	SLC29A3	NM_001174098.1,NM_018344.5	125,125	1619,3101,1783	GG,GA,AA		41.1279,36.4049,48.739	possibly-damaging,possibly-damaging	18/259,18/476	73082563	6339,6667	2203	4300	6503	SO:0001583	missense	55315	exon2			ACCTACAGAACCA	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.52A>G	10.37:g.73082563A>G	ENSP00000362285:p.Arg18Gly	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_018344	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	983	0.4500915750915751	334	0.6788617886178862	132	0.36464088397790057	219	0.38286713286713286	298	0.39313984168865435	A	6.233	0.411183	0.11812	0.635951	0.411279	ENSG00000198246	ENST00000373189	T	0.68331	-0.32	5.15	1.21	0.21127	.	0.644976	0.15117	N	0.279597	T	0.00012	0.0000	M	0.63428	1.95	0.26705	P	0.971088	B	0.06786	0.001	B	0.06405	0.002	T	0.41627	-0.9498	9	0.39692	T	0.17	-3.3134	7.3753	0.26825	0.5473:0.3726:0.0801:0.0	rs2277257;rs17629116;rs52808361;rs56776781;rs2277257	18	Q9BZD2	S29A3_HUMAN	G	18	ENSP00000362285:R18G	ENSP00000362285:R18G	R	+	1	2	SLC29A3	72752569	0.324000	0.24652	0.394000	0.26270	0.007000	0.05969	0.728000	0.26013	0.363000	0.24346	-0.321000	0.08615	AGA	A|0.527;G|0.473	0.473	strong		0.587	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		G	73082563	A	G	73082563	3	3	22	1	0	0	0	0	1	0	0	0	14536	180	7	3	58	3	SLC29A3	10	73082563	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24808	73082563	62452184	5622	10730										
CDH23	64072	hgsc.bcm.edu	37	chr10	73199595	73199595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccccaggagccatggggCgccatgttgccaccagctgc	13	15	0	0	rs7902757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73199595C>T	ENST00000224721.6	+	1	12	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CDH23_ENST00000398842.3_Missense_Mutation_p.R3C|CDH23_ENST00000461841.3_Missense_Mutation_p.R48C|CDH23_ENST00000299366.7_Missense_Mutation_p.R48C|CDH23_ENST00000398809.4_Missense_Mutation_p.R3C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3			R -> C (in dbSNP:rs7902757). {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12975309}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGCCATGGGGCGCCATGTTGC	0.617													T|||	686	0.136981	0.4266	0.0504	5008	,	,		18630	0.002		0.0318	False		,,,				2504	0.0542				p.R3C		Atlas-SNP	.											.	CDH23	365	.	0			c.C7T						PASS	.	T	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1330,2752		216,898,927	44	49	47	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7,7,7,7,7	0.5	1	10	dbSNP_116	47	202,8132		5,192,3970	yes	missense,missense,missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_001171932.1,NM_022124.5,NM_052836.3	180,180,180,180,180	221,1090,4897	TT,TC,CC		2.4238,32.5821,12.3389	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	3/1382,3/1062,3/407,3/3355,3/531	73199595	1532,10884	2041	4167	6208	SO:0001583	missense	64072	exon2			ATGGGGCGCCATG	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7C>T	10.37:g.73199595C>T	ENSP00000224721:p.Arg3Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_052836	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		241	0.11034798534798534	199	0.40447154471544716	18	0.049723756906077346	3	0.005244755244755245	21	0.027704485488126648	T	6.746	0.506418	0.12883	0.325821	0.024238	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	T;T	0.59502	0.26;0.31	4.59	0.539	0.17156	.	0.664336	0.13012	N	0.420749	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.999999999868258	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39603	-0.9606	9	0.48119	T	0.1	.	4.2952	0.10897	0.0:0.1904:0.3357:0.4739	rs7902757;rs60485232;rs7902757	3;3;3	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	C	3	ENSP00000381789:R3C;ENSP00000381822:R3C	ENSP00000224721:R3C	R	+	1	0	CDH23	72869601	0.978000	0.34361	0.987000	0.45799	0.212000	0.24457	-0.053000	0.11846	-0.351000	0.08249	-0.817000	0.03123	CGC	C|0.895;T|0.105	0.105	strong		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73199595	C	T	73199595	3	4	22	1	0	0	0	0	1	0	0	0	3108	768	27	1	9	1	CDH23	10	73199595	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117032	73199595	62335152	5623	10731										
CDH23	64072	hgsc.bcm.edu	37	chr10	73377069	73377069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccggagttcaacagctcCgagtacagcgtggccatcac	11	15	2	0	rs7903475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73377069C>T	ENST00000224721.6	+	10	1073	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	CDH23_ENST00000398842.3_Silent_p.S351S|CDH23_ENST00000461841.3_Silent_p.S396S|CDH23_ENST00000299366.7_Silent_p.S396S|CDH23_ENST00000398809.4_Silent_p.S351S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	351	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAACAGCTCCGAGTACAGCG	0.547													C|||	368	0.0734824	0.2625	0.0259	5008	,	,		21110	0.0		0.003	False		,,,				2504	0.0				p.S351S		Atlas-SNP	.											.	CDH23	365	.	0			c.C1053T						PASS	.	C	,,,,	967,3407	328.0+/-300.3	116,735,1336	83	86	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1053,1053,1053,1053,1053	-10.9	0.2	10	dbSNP_116	85	12,8568	7.7+/-29.5	0,12,4278	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171930.1,NM_001171931.1,NM_001171932.1,NM_022124.5,NM_052836.3	,,,,	116,747,5614	TT,TC,CC		0.1399,22.1079,7.5575	,,,,	351/1382,351/1062,351/407,351/3355,351/531	73377069	979,11975	2187	4290	6477	SO:0001819	synonymous_variant	64072	exon11			CAGCTCCGAGTAC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1068C>T	10.37:g.73377069C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	108	52	0.481481	NM_052836	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				C|0.932;T|0.068	0.068	strong		0.547	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73377069	C	T	73377069	2	4	22	1	0	0	0	0	0	0	0	1	3108	639	23	1		1	CDH23	10	73377069	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	177474	73377069	62157678	5624	10732										
CDH23	64072	hgsc.bcm.edu	37	chr10	73466709	73466709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggccgtgtacaatgtgtcTgtgtccgaggacgtgccacg	14	12	1	0	rs10823829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73466709T>C	ENST00000224721.6	+	25	3029	c.3024T>C	c.(3022-3024)tcT>tcC	p.S1008S	CDH23_ENST00000299366.7_Silent_p.S1048S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1003	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAATGTGTCTGTGTCCGAGG	0.637													C|||	1039	0.207468	0.4062	0.1513	5008	,	,		19342	0.2698		0.0348	False		,,,				2504	0.092				p.S1003S		Atlas-SNP	.											.	CDH23	365	.	0			c.T3009C						PASS	.	C	,,	1436,2890		225,986,952	43	54	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3009,3009,3009	-4.1	0.7	10	dbSNP_120	51	277,8211		5,267,3972	no	coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	,,	230,1253,4924	CC,CT,TT		3.2634,33.1946,13.3682	,,	1003/1382,1003/1062,1003/3355	73466709	1713,11101	2163	4244	6407	SO:0001819	synonymous_variant	64072	exon25			TGTGTCTGTGTCC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.3024T>C	10.37:g.73466709T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	144	142	0.986111	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				T|0.793;C|0.207	0.207	strong		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73466709	T	C	73466709	2	2	22	1	0	0	0	0	0	0	0	1	3108	1567	55	3		3	CDH23	10	73466709	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	89640	73466709	62068038	5625	10733										
CDH23	64072	hgsc.bcm.edu	37	chr10	73550969	73550969	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagctgctgctgctggctGaggacatcgggctgctcaac	15	11	1	1	rs10466026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73550969G>A	ENST00000224721.6	+	46	6150	c.6145G>A	c.(6145-6147)Gag>Aag	p.E2049K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2044	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E2049K(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCTGCTGGCTGAGGACATCGG	0.627													G|||	1666	0.332668	0.261	0.3473	5008	,	,		20132	0.5288		0.2763	False		,,,				2504	0.2751				p.E2044K		Atlas-SNP	.											CDH23,colon,carcinoma,0,2	CDH23	365	2	1	Substitution - Missense(1)	stomach(1)	c.G6130A						scavenged	.	G	LYS/GLU	1189,3207		151,887,1160	51	58	55	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6130	5.9	1	10	dbSNP_119	55	2258,6330		313,1632,2349	yes	missense	CDH23	NM_022124.5	56	464,2519,3509	AA,AG,GG		26.2925,27.0473,26.5481	possibly-damaging	2044/3355	73550969	3447,9537	2198	4294	6492	SO:0001583	missense	64072	exon45			CTGGCTGAGGACA	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6145G>A	10.37:g.73550969G>A	ENSP00000224721:p.Glu2049Lys	Somatic	92	1	0.0108696		WXS	Illumina HiSeq	Phase_I	98	44	0.44898	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		760	0.34798534798534797	145	0.29471544715447157	108	0.2983425414364641	299	0.5227272727272727	208	0.27440633245382584	G	21.3	4.130608	0.77549	0.270473	0.262925	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.91	5.91	0.95273	Cadherin (3);Cadherin-like (1);	0.213542	0.38605	N	0.001630	T	0.00012	0.0000	N	0.02142	-0.665	0.09310	P	1.0	P	0.38535	0.635	B	0.40134	0.32	T	0.18840	-1.0324	8	0.08179	T	0.78	.	11.4841	0.50344	0.0683:0.1272:0.8045:0.0	rs10466026;rs58573365;rs10466026	2044	Q9H251	CAD23_HUMAN	K	2049;2044;2047	.	ENSP00000224721:E2049K	E	+	1	0	CDH23	73220975	0.996000	0.38824	1.000000	0.80357	0.837000	0.47467	2.222000	0.42926	2.793000	0.96121	0.655000	0.94253	GAG	G|0.661;A|0.339	0.339	strong		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73550969	G	A	73550969	3	1	22	1	0	0	0	0	1	0	0	0	3108	1291	45	2	6657	2	CDH23	10	73550969	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84260	73550969	61983778	5626	10734										
CDH23	64072	hgsc.bcm.edu	37	chr10	73551088	73551088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctgctagagaactgcccGcctggtaagcaggggacagg	14	11	1	1	rs55964031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73551088G>A	ENST00000224721.6	+	46	6269	c.6264G>A	c.(6262-6264)ccG>ccA	p.P2088P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2083	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P2088P(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGAACTGCCCGCCTGGTAAGC	0.627													G|||	135	0.0269569	0.0976	0.0072	5008	,	,		16895	0.0		0.001	False		,,,				2504	0.0				p.P2083P		Atlas-SNP	.											CDH23,NS,carcinoma,0,1	CDH23	365	1	1	Substitution - coding silent(1)	prostate(1)	c.G6249A						scavenged	.	G		276,3814		11,254,1780	42	43	43	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6249	-8.6	1	10	dbSNP_129	43	4,8364		0,4,4180	no	coding-synonymous	CDH23	NM_022124.5		11,258,5960	AA,AG,GG		0.0478,6.7482,2.2476		2083/3355	73551088	280,12178	2045	4184	6229	SO:0001819	synonymous_variant	64072	exon45			CTGCCCGCCTGGT	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6264G>A	10.37:g.73551088G>A		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				G|0.974;A|0.026	0.026	strong		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73551088	G	A	73551088	2	1	22	1	0	0	0	0	0	0	0	1	3108	1074	38	1		1	CDH23	10	73551088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	119	73551088	61983659	5627	10735										
CDH23	64072	hgsc.bcm.edu	37	chr10	73553177	73553177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccattgtcaccattctgatCgatgacatcaatgactcccg	7	13	3	3	rs41281332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73553177C>T	ENST00000224721.6	+	47	6512	c.6507C>T	c.(6505-6507)atC>atT	p.I2169I	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2164	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCATTCTGATCGATGACATCA	0.597													C|||	131	0.0261581	0.0946	0.0072	5008	,	,		18788	0.0		0.001	False		,,,				2504	0.0				p.I2164I		Atlas-SNP	.											.	CDH23	365	.	0			c.C6492T						PASS	.	C		294,3964		11,272,1846	75	82	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6492	-2.9	1	10	dbSNP_127	80	4,8500		0,4,4248	no	coding-synonymous	CDH23	NM_022124.5		11,276,6094	TT,TC,CC		0.047,6.9047,2.3351		2164/3355	73553177	298,12464	2129	4252	6381	SO:0001819	synonymous_variant	64072	exon46			TCTGATCGATGAC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6507C>T	10.37:g.73553177C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	120	63	0.525	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				C|0.976;T|0.024	0.024	strong		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73553177	C	T	73553177	2	4	22	1	0	0	0	0	0	0	0	1	3108	874	31	1		1	CDH23	10	73553177	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2089	73553177	61981570	5628	10736										
CDH23	64072	hgsc.bcm.edu	37	chr10	73558886	73558886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaaggtcattgccaaccGgacagtggactacgaggagg	16	8	1	0	rs4747194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73558886G>A	ENST00000224721.6	+	50	7093	c.7088G>A	c.(7087-7089)cGg>cAg	p.R2363Q	CDH23_ENST00000398788.3_Missense_Mutation_p.R118Q|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2358	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R2363Q(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATTGCCAACCGGACAGTGGAC	0.572													G|||	1709	0.341254	0.267	0.3501	5008	,	,		19822	0.5298		0.2783	False		,,,				2504	0.3057				p.R2358Q		Atlas-SNP	.											CDH23,NS,carcinoma,0,1	CDH23	365	1	1	Substitution - Missense(1)	stomach(1)	c.G7073A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG	1060,2966		127,806,1080	85	95	92	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7073,353,353	2.7	1	10	dbSNP_111	92	2191,6191		309,1573,2309	yes	missense,missense,missense	CDH23	NM_022124.5,NM_001171934.1,NM_001171933.1	43,43,43	436,2379,3389	AA,AG,GG		26.1393,26.3289,26.2008	benign,benign,benign	2358/3355,118/1080,118/1115	73558886	3251,9157	2013	4191	6204	SO:0001583	missense	64072	exon49			CCAACCGGACAGT	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7088G>A	10.37:g.73558886G>A	ENSP00000224721:p.Arg2363Gln	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	44	0.556962	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		765	0.35027472527472525	144	0.2926829268292683	109	0.3011049723756906	300	0.5244755244755245	212	0.2796833773087071	G	14.24	2.477311	0.44044	0.263289	0.261393	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01725	4.67	5.55	2.71	0.32032	Cadherin (4);Cadherin-like (1);	0.138749	0.45867	N	0.000323	T	0.00012	0.0000	L	0.53617	1.68	0.20764	P	0.999855664	B;B	0.18310	0.004;0.027	B;B	0.16289	0.01;0.015	T	0.22941	-1.0202	9	0.08179	T	0.78	.	10.5972	0.45345	0.2081:0.0:0.7919:0.0	rs4747194;rs52818762;rs57656556;rs4747194	2358;2358	E9PEX1;Q9H251	.;CAD23_HUMAN	Q	2363;2358;2361;118	ENSP00000381768:R118Q	ENSP00000224721:R2363Q	R	+	2	0	CDH23	73228892	1.000000	0.71417	0.958000	0.39756	0.856000	0.48823	0.823000	0.27366	0.314000	0.23086	-0.137000	0.14449	CGG	G|0.658;A|0.342	0.342	strong		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73558886	G	A	73558886	3	1	22	1	0	0	0	0	1	0	0	0	3108	1116	39	1	7616	1	CDH23	10	73558886	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5709	73558886	61975861	5629	10737										
CDH23	64072	hgsc.bcm.edu	37	chr10	73558952	73558952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcagacaacgggtcccCgccccgggcagctgagatcc	13	17	1	2	rs4747195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73558952C>T	ENST00000224721.6	+	50	7159	c.7154C>T	c.(7153-7155)cCg>cTg	p.P2385L	CDH23_ENST00000398788.3_Missense_Mutation_p.P140L|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2380	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P2385L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACGGGTCCCCGCCCCGGGCA	0.592													C|||	1644	0.328275	0.2443	0.3473	5008	,	,		19778	0.5298		0.2744	False		,,,				2504	0.2761				p.P2380L		Atlas-SNP	.											CDH23,NS,carcinoma,0,1	CDH23	365	1	1	Substitution - Missense(1)	stomach(1)	c.C7139T						PASS	.	C	LEU/PRO,LEU/PRO,LEU/PRO	966,3058		114,738,1160	70	80	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	419,419,7139	5.6	1	10	dbSNP_111	77	2173,6145		304,1565,2290	yes	missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	98,98,98	418,2303,3450	TT,TC,CC		26.1241,24.006,25.4335	probably-damaging,probably-damaging,probably-damaging	140/1115,140/1080,2380/3355	73558952	3139,9203	2012	4159	6171	SO:0001583	missense	64072	exon49			GGTCCCCGCCCCG	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7154C>T	10.37:g.73558952C>T	ENSP00000224721:p.Pro2385Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		749	0.34294871794871795	133	0.2703252032520325	108	0.2983425414364641	300	0.5244755244755245	208	0.27440633245382584	C	22.5	4.304758	0.81247	0.24006	0.261241	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.00792	5.69	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.82716	2.605	0.09310	P	0.99999999999995	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.53373	-0.8448	9	0.62326	D	0.03	.	19.516	0.95165	0.0:1.0:0.0:0.0	rs4747195;rs60719007;rs4747195	2380;2380	E9PEX1;Q9H251	.;CAD23_HUMAN	L	2385;2380;2383;140	ENSP00000381768:P140L	ENSP00000224721:P2385L	P	+	2	0	CDH23	73228958	1.000000	0.71417	0.994000	0.49952	0.319000	0.28217	7.786000	0.85741	2.623000	0.88846	0.655000	0.94253	CCG	C|0.668;T|0.332	0.332	strong		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73558952	C	T	73558952	3	4	22	1	0	0	0	0	1	0	0	0	3108	652	23	1	7682	1	CDH23	10	73558952	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66	73558952	61975795	5630	10738										
CDH23	64072	hgsc.bcm.edu	37	chr10	73562744	73562744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtatgagaatgagccggcGggcacctcggtcatcaccat	13	11	2	2	rs10823849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73562744G>A	ENST00000224721.6	+	53	7592	c.7587G>A	c.(7585-7587)gcG>gcA	p.A2529A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.A284A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2524	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.A2529A(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATGAGCCGGCGGGCACCTCGG	0.577													G|||	1645	0.328474	0.2307	0.3444	5008	,	,		20495	0.5298		0.2783	False		,,,				2504	0.2935				p.A2524A		Atlas-SNP	.											CDH23,NS,carcinoma,0,1	CDH23	365	1	1	Substitution - coding silent(1)	stomach(1)	c.G7572A						PASS	.	G	,,	904,3136		96,712,1212	69	73	72	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	852,852,7572	-10	0.4	10	dbSNP_120	72	2180,6174		306,1568,2303	no	coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	,,	402,2280,3515	AA,AG,GG		26.0953,22.3762,24.883	,,	284/1115,284/1080,2524/3355	73562744	3084,9310	2020	4177	6197	SO:0001819	synonymous_variant	64072	exon52			GCCGGCGGGCACC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7587G>A	10.37:g.73562744G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	140	82	0.585714	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				G|0.681;A|0.319	0.319	strong		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73562744	G	A	73562744	2	1	22	1	0	0	0	0	0	0	0	1	3108	1103	39	1		1	CDH23	10	73562744	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3792	73562744	61972003	5631	10739										
CDH23	5660	hgsc.bcm.edu	37	chr10	73574948	73574948	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccactgccttcgagcgcaaCgcccgcacagaatccgccaa	9	18	0	1	rs73277900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73574948C>T	ENST00000394936.3	-	0	2866				CDH23_ENST00000224721.6_Silent_p.N3331N|CDH23_ENST00000398788.3_Silent_p.N1086N|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCGAGCGCAACGCCCGCACAG	0.637													C|||	106	0.0211661	0.0756	0.0072	5008	,	,		17511	0.0		0.001	False		,,,				2504	0.0				p.N3326N		Atlas-SNP	.											.	CDH23	365	.	0			c.C9978T						PASS	.	C	,,,,	260,4058		7,246,1906	21	28	26	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3258,3153,669,564,9978	-0.8	1	10	dbSNP_130	26	3,8497		0,3,4247	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	,,,,	7,249,6153	TT,TC,CC		0.0353,6.0213,2.0518	,,,,	1086/1115,1051/1080,223/252,188/217,3326/3355	73574948	263,12555	2159	4250	6409	SO:0001628	intergenic_variant	64072	exon68			GCGCAACGCCCGC	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574948C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_022124	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	CCDS7311.1																																																																																			C|0.984;T|0.016	0.016	strong		0.637	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		T	73574948	C	T	73574948	1	4	22	0	1	0	0	0	0	0	0	0	3108	535	19	1		1	CDH23	10	73574948	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12204	73574948	61959799	5632	10740										
SPOCK2	9806	hgsc.bcm.edu	37	chr10	73826775	73826775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttgtccaggttgatggcGgccagctccgtctggtccag	13	12	1	1	rs7079142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73826775G>A	ENST00000373109.2	-	8	1257	c.813C>T	c.(811-813)gcC>gcT	p.A271A	SPOCK2_ENST00000317376.4_Silent_p.A271A|SPOCK2_ENST00000536168.1_Silent_p.A271A|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	271					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGTTGATGGCGGCCAGCTCCG	0.582													G|||	46	0.0091853	0.034	0.0014	5008	,	,		18389	0.0		0.0	False		,,,				2504	0.0				p.A271A		Atlas-SNP	.											.	SPOCK2	32	.	0			c.C813T						PASS	.	G		112,4294	85.8+/-124.5	0,112,2091	121	106	111		813	-7.5	0.6	10	dbSNP_116	111	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SPOCK2	NM_014767.2		0,115,6388	AA,AG,GG		0.0349,2.542,0.8842		271/425	73826775	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	9806	exon8			GATGGCGGCCAGC	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.813C>T	10.37:g.73826775G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_001244950	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			G|0.990;A|0.010	0.010	strong		0.582	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			A	73826775	G	A	73826775	2	1	22	1	0	0	0	0	0	0	0	1	15079	1103	39	1		1	SPOCK2	10	73826775	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	251827	73826775	61707972	5633	10741										
ANAPC16	119504	hgsc.bcm.edu	37	chr10	73992862	73992862	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgctgggattcaccccCtcttcaggttgatactgcct	9	14	3	1	rs9275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:73992862C>G	ENST00000299381.4	+	4	439	c.321C>G	c.(319-321)ccC>ccG	p.P107P	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	107					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)				large_intestine(1)|ovary(1)	2						GATTCACCCCCTCTTCAGGTT	0.542													C|||	364	0.0726837	0.2595	0.0274	5008	,	,		14954	0.0		0.002	False		,,,				2504	0.0				p.P107P		Atlas-SNP	.											.	ANAPC16	10	.	0			c.C321G						PASS	.	C	,,,	919,3487	344.1+/-307.9	90,739,1374	66	64	65		321,321,246,321	-0.3	1	10	dbSNP_52	65	13,8587	9.1+/-34.3	0,13,4287	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANAPC16	NM_001242546.1,NM_001242547.1,NM_001242548.1,NM_173473.3	,,,	90,752,5661	GG,GC,CC		0.1512,20.8579,7.1659	,,,	107/111,107/111,82/86,107/111	73992862	932,12074	2203	4300	6503	SO:0001819	synonymous_variant	119504	exon5			CACCCCCTCTTCA	BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"Anaphase promoting complex subunits"	26976	protein-coding gene	gene with protein product	"centromere protein 27"	613427	"chromosome 10 open reading frame 104"	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.321C>G	10.37:g.73992862C>G		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	45	26	0.577778	NM_001242546		Silent	SNP	ENST00000299381.4	37	CCDS7314.1																																																																																			G|0.064;C|0.936	0.064	strong		0.542	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048565.2	NM_173473		G	73992862	C	G	73992862	2	3	22	1	0	0	0	0	0	0	0	1	602	668	24	4		4	ANAPC16	10	73992862	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166087	73992862	61541885	5634	10742										
CBARA1	10367	hgsc.bcm.edu	37	chr10	74183034	74183034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagctgcctctgcatggcGgtcagcttcttggactgcac	12	12	3	1	rs186054834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:74183034G>A	ENST00000361114.5	-	9	1125	c.1029C>T	c.(1027-1029)acC>acT	p.T343T	MICU1_ENST00000398763.4_Silent_p.T145T|MICU1_ENST00000418483.2_Silent_p.T145T|MICU1_ENST00000398761.4_Silent_p.T345T|MICU1_ENST00000401998.3_Silent_p.T343T	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	343					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TCTGCATGGCGGTCAGCTTCT	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19951	0.0		0.0	False		,,,				2504	0.0				p.T343T		Atlas-SNP	.											.	.	.	.	0			c.C1029T						PASS	.	G	,,	5,3985		0,5,1990	106	100	102		1029,435,1035	-11.3	0.3	10		102	0,8342		0,0,4171	no	coding-synonymous,coding-synonymous,coding-synonymous	MICU1	NM_001195518.1,NM_001195519.1,NM_006077.3	,,	0,5,6161	AA,AG,GG		0.0,0.1253,0.0405	,,	343/477,145/279,345/479	74183034	5,12327	1995	4171	6166	SO:0001819	synonymous_variant	10367	exon9			CATGGCGGTCAGC	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1029C>T	10.37:g.74183034G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	160	69	0.43125	NM_001195518	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	CCDS55715.1																																																																																			G|0.999;A|0.001	0.001	strong		0.493	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		A	74183034	G	A	74183034	2	1	22	1	0	0	0	0	0	0	0	1	2696	1103	39	1		1	CBARA1	10	74183034	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190172	74183034	61351713	5635	10743										
SYNPO2L	79933	hgsc.bcm.edu	37	chr10	75407887	75407887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctgcgaagacaagaagGggggtggggcggggctgagg	22	8	0	3	rs57006992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:75407887G>T	ENST00000394810.2	-	4	1672	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P284H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	508	Pro-rich.		P -> H (in dbSNP:rs57006992).			cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AGACAAGAAGGGGGGTGGGGC	0.667													G|||	383	0.0764776	0.2511	0.0346	5008	,	,		12697	0.0089		0.007	False		,,,				2504	0.0112				p.P508H		Atlas-SNP	.											.	SYNPO2L	118	.	0			c.C1523A						PASS	.	G	HIS/PRO,HIS/PRO	846,3216		60,726,1245	6	9	8		1523,851	4.4	0.7	10	dbSNP_129	8	51,7955		2,47,3954	yes	missense,missense	SYNPO2L	NM_001114133.1,NM_024875.3	77,77	62,773,5199	TT,TG,GG		0.637,20.8272,7.4329	probably-damaging,probably-damaging	508/978,284/754	75407887	897,11171	2031	4003	6034	SO:0001583	missense	79933	exon4			AAGAAGGGGGGTG	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1523C>A	10.37:g.75407887G>T	ENSP00000378289:p.Pro508His	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	58	32	0.551724	NM_001114133	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	144	0.06593406593406594	115	0.23373983739837398	16	0.04419889502762431	7	0.012237762237762238	6	0.0079155672823219	G	12.87	2.067278	0.36470	0.208272	0.00637	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.35048	1.85;1.33;2.16	5.31	4.41	0.53225	.	0.264551	0.37715	N	0.001977	T	0.00012	0.0000	L	0.40543	1.245	0.22066	P	0.999386352	B;B	0.33171	0.278;0.4	B;B	0.36464	0.07;0.225	T	0.15578	-1.0432	9	0.62326	D	0.03	-5.2926	15.6046	0.76652	0.0:0.0:0.8615:0.1385	rs57006992	508;284	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	284;508;508	ENSP00000361964:P284H;ENSP00000361963:P508H;ENSP00000378289:P508H	ENSP00000361963:P508H	P	-	2	0	SYNPO2L	75077893	0.994000	0.37717	0.666000	0.29783	0.768000	0.43524	2.544000	0.45761	1.474000	0.48178	-0.268000	0.10319	CCC	G|0.933;T|0.067	0.067	strong		0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		T	75407887	G	T	75407887	3	4	22	1	0	0	0	0	1	0	0	0	15455	1232	43	4	1414	4	SYNPO2L	10	75407887	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1224853	75407887	60126860	5636	10744										
DUPD1	338599	hgsc.bcm.edu	37	chr10	76797660	76797660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcgcctctgctgcaccagCtgcttgtccagctcccggag	11	17	1	0	rs1868624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76797660C>T	ENST00000338487.5	-	3	596	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	199	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCTGCACCAGCTGCTTGTCCA	0.657													C|||	34	0.00678914	0.0227	0.0058	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0				p.Q199Q		Atlas-SNP	.											.	DUPD1	30	.	0			c.G597A						PASS	.	C		89,4317	74.1+/-112.3	0,89,2114	60	60	60		597	4.1	1	10	dbSNP_92	60	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	DUPD1	NM_001003892.1		0,91,6412	TT,TC,CC		0.0233,2.02,0.6997		199/221	76797660	91,12915	2203	4300	6503	SO:0001819	synonymous_variant	338599	exon3			CACCAGCTGCTTG		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.597G>A	10.37:g.76797660C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_001003892	B2RP93	Silent	SNP	ENST00000338487.5	37	CCDS31223.1																																																																																			C|0.959;T|0.041	0.041	strong		0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		T	76797660	C	T	76797660	2	4	22	1	0	0	0	0	0	0	0	1	4804	796	28	2		2	DUPD1	10	76797660	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1389773	76797660	58737087	5637	10745										
DUPD1	338599	hgsc.bcm.edu	37	chr10	76803567	76803567	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttactgtggtcgtcgcTtagcgctctgtcgatgaagg	12	10	2	1	rs16931938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76803567T>G	ENST00000338487.5	-	2	408	c.409A>C	c.(409-411)Agc>Cgc	p.S137R		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	137	Tyrosine-protein phosphatase.		S -> R (in dbSNP:rs16931938).		protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGTCGTCGCTTAGCGCTCTG	0.706													G|||	1507	0.300919	0.6543	0.2061	5008	,	,		6796	0.2738		0.0457	False		,,,				2504	0.181				p.S137R		Atlas-SNP	.											.	DUPD1	30	.	0			c.A409C						PASS	.	G	ARG/SER	2448,1958	550.5+/-378.0	702,1044,457	67	60	62		409	-1.6	0	10	dbSNP_123	62	425,8175	797.7+/-407.4	11,403,3886	yes	missense	DUPD1	NM_001003892.1	110	713,1447,4343	GG,GT,TT		4.9419,44.4394,22.0898	benign	137/221	76803567	2873,10133	2203	4300	6503	SO:0001583	missense	338599	exon2			CGTCGCTTAGCGC		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.409A>C	10.37:g.76803567T>G	ENSP00000340609:p.Ser137Arg	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_001003892	B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	608	0.2783882783882784	335	0.6808943089430894	71	0.19613259668508287	171	0.29895104895104896	31	0.040897097625329816	G	10.15	1.270877	0.23221	0.555606	0.049419	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.63	-1.65	0.08291	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.810313	0.11263	N	0.582345	T	0.00012	0.0000	L	0.48260	1.515	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.23891	T	0.37	-0.524	13.1202	0.59321	0.0:0.0959:0.2121:0.692	rs16931938;rs52825920;rs16931938	137	Q68J44	DUPD1_HUMAN	R	137	ENSP00000340609:S137R	ENSP00000340609:S137R	S	-	1	0	DUPD1	76473573	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	-0.950000	0.03659	-0.847000	0.03039	AGC	T|0.742;G|0.258	0.258	strong		0.706	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		G	76803567	T	G	76803567	3	3	22	1	0	0	0	0	1	0	0	0	4804	1609	56	5	261	5	DUPD1	10	76803567	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5907	76803567	58731180	5638	10746										
DUPD1	338599	hgsc.bcm.edu	37	chr10	76803600	76803602	+	In_Frame_Del	DEL	AGA	AGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaaggctgccgccgggtAgaagaagacactgaggtcga					rs571550955|rs370448554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76803600_76803602delAGA	ENST00000338487.5	-	2	373_375	c.374_376delTCT	c.(373-378)ttctac>tac	p.F125del		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	125	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCGCCGGGTAGAAGAAGACACT	0.68														33	0.00658946	0.0219	0.0058	5008	,	,		9789	0.0		0.0	False		,,,				2504	0.0				p.125_126del		Pindel,Atlas-Indel	.											.	DUPD1	30	.	0			c.375_377del						PASS	.			103,4161		6,91,2035						2.5	0.2			84	42,8212		16,10,4101	no	coding	DUPD1	NM_001003892.1		22,101,6136	A1A1,A1R,RR		0.5088,2.4156,1.1583				145,12373				SO:0001651	inframe_deletion	338599	exon2			.		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.374_376delTCT	10.37:g.76803606_76803608delAGA	ENSP00000340609:p.Phe125del	Somatic	44	.	.		WXS	Illumina HiSeq	Phase_I	56	18	0.321	NM_001003892	B2RP93	In_Frame_Del	DEL	ENST00000338487.5	37	CCDS31223.1																																																																																			.	.	none		0.68	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		-	76803602	AGA	-	76803600	7	5	22	1	0	1	0	1	0	0	0	0	4804	420	15	0	294	0	DUPD1	10	76803600	In_Frame_Del	DEL	AGA	TCGA-G8-6324-01A-11D-2210-10	33	76803600	58731147	5639	10747										
DUSP13	51207	hgsc.bcm.edu	37	chr10	76854463	76854463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgtctcccgccccagtcGgttgtccagaacctggagct	10	18	1	1	rs16931996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76854463G>C	ENST00000472493.2	-	4	646	c.568C>G	c.(568-570)Cga>Gga	p.R190G	DUSP13_ENST00000491677.2_Missense_Mutation_p.R319G|DUSP13_ENST00000607131.1_Missense_Mutation_p.R283G|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Missense_Mutation_p.R326G|DUSP13_ENST00000372700.3_Missense_Mutation_p.R240G|DUSP13_ENST00000605915.1_Missense_Mutation_p.R212G|DUSP13_ENST00000464872.1_Missense_Mutation_p.R139G	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	190			R -> G (in dbSNP:rs16931996).		meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGCCCCAGTCGGTTGTCCAGA	0.642													G|||	149	0.0297524	0.1082	0.0072	5008	,	,		17269	0.0		0.001	False		,,,				2504	0.0				p.R283G	NSCLC(174;1655 2059 12324 40663 42963)	Atlas-SNP	.											.	DUSP13	82	.	0			c.C847G						PASS	.	G	,GLY/ARG,GLY/ARG,GLY/ARG	462,3944	213.8+/-233.3	24,414,1765	47	45	46		,718,847,568	3.6	1	10	dbSNP_123	46	3,8597	3.0+/-9.4	0,3,4297	yes	utr-3,missense,missense,missense	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1,NM_016364.3	,125,125,125	24,417,6062	CC,CG,GG		0.0349,10.4857,3.5753	,probably-damaging,probably-damaging,probably-damaging	,240/249,283/292,190/199	76854463	465,12541	2203	4300	6503	SO:0001583	missense	51207	exon6			CCAGTCGGTTGTC	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.568C>G	10.37:g.76854463G>C	ENSP00000444580:p.Arg190Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	56	35	0.625	NM_001007273	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	CCDS7346.1	59	0.027014652014652016	55	0.11178861788617886	4	0.011049723756906077	0	0.0	0	0.0	G	19.55	3.847958	0.71603	0.104857	3.49E-4	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.52	3.61	0.41365	Dual specificity phosphatase, subgroup, catalytic domain (2);	0.557970	0.19913	N	0.103241	T	0.03564	0.0102	M	0.74647	2.275	0.34897	D	0.74614	P;D;B	0.54772	0.556;0.968;0.157	B;P;B	0.54706	0.248;0.759;0.146	T	0.53500	-0.8430	10	0.49607	T	0.09	-3.9628	14.5469	0.68038	0.0:0.0:0.61:0.39	rs16931996;rs52804188;rs16931996	240;319;190	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	G	190;190;319;283;139;240	ENSP00000311051:R190G;ENSP00000444580:R190G;ENSP00000436312:R319G;ENSP00000434041:R139G;ENSP00000361785:R240G	ENSP00000311051:R190G	R	-	1	2	DUSP13	76524469	0.947000	0.32204	1.000000	0.80357	0.987000	0.75469	1.817000	0.39002	0.635000	0.30488	-0.169000	0.13324	CGA	G|0.956;C|0.044	0.044	strong		0.642	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			C	76854463	G	C	76854463	3	2	22	1	0	0	0	0	1	0	0	0	4813	1124	39	4	32	4	DUSP13	10	76854463	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50863	76854463	58680284	5640	10748										
DUSP13	51207	hgsc.bcm.edu	37	chr10	76855412	76855412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcgaagaaggggttgtcGtccgcctcgatgccatagta	14	9	0	1	rs3740317	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76855412G>A	ENST00000472493.2	-	3	393	c.315C>T	c.(313-315)gaC>gaT	p.D105D	DUSP13_ENST00000478873.2_Silent_p.D241D|DUSP13_ENST00000491677.2_Silent_p.D234D|DUSP13_ENST00000607131.1_Silent_p.D198D|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000372700.3_Silent_p.D155D|DUSP13_ENST00000605915.1_Silent_p.D127D|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	105					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D234D(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGGGTTGTCGTCCGCCTCGA	0.552													A|||	2110	0.421326	0.4289	0.4424	5008	,	,		21230	0.6379		0.2773	False		,,,				2504	0.3211				p.D198D	NSCLC(174;1655 2059 12324 40663 42963)	Atlas-SNP	.											DUSP13_ENST00000356369,NS,carcinoma,0,1	DUSP13	82	1	1	Substitution - coding silent(1)	stomach(1)	c.C594T						scavenged	.	A	,,,	1849,2557	634.9+/-396.3	383,1083,737	263	210	228		,465,594,315	2.7	1	10	dbSNP_107	228	2298,6302	705.7+/-405.5	303,1692,2305	no	utr-3,coding-synonymous,coding-synonymous,coding-synonymous	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1,NM_016364.3	,,,	686,2775,3042	AA,AG,GG		26.7209,41.9655,31.8853	,,,	,155/249,198/292,105/199	76855412	4147,8859	2203	4300	6503	SO:0001819	synonymous_variant	51207	exon5			GTTGTCGTCCGCC	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.315C>T	10.37:g.76855412G>A		Somatic	122	2	0.0163934		WXS	Illumina HiSeq	Phase_I	125	124	0.992	NM_001007273	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	ENST00000472493.2	37	CCDS7346.1																																																																																			G|0.642;A|0.358	0.358	strong		0.552	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			A	76855412	G	A	76855412	2	1	22	1	0	0	0	0	0	0	0	1	4813	1136	40	1		1	DUSP13	10	76855412	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	949	76855412	58679335	5641	10749										
DUSP13	51207	hgsc.bcm.edu	37	chr10	76867899	76867899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccctgacagtagaggcccTtgtgggcggcgttcagcacg	15	13	1	2	rs7912300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:76867899T>C	ENST00000372702.3	-	2	281	c.218A>G	c.(217-219)aAg>aGg	p.K73R	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	81					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGAGGCCCTTGTGGGCGGC	0.632													C|||	2271	0.453474	0.5348	0.4452	5008	,	,		18611	0.6438		0.2823	False		,,,				2504	0.3292				p.K73R	NSCLC(174;1655 2059 12324 40663 42963)	Atlas-SNP	.											.	DUSP13	82	.	0			c.A218G						PASS	.	C	ARG/LYS,,	1971,2081		500,971,555	48	56	53		218,,	4.9	1	10	dbSNP_116	53	2211,6115		294,1623,2246	yes	missense,intron,intron	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	26,,	794,2594,2801	CC,CT,TT		26.5554,48.6426,33.7857	,,	73/189,,	76867899	4182,8196	2026	4163	6189	SO:0001583	missense	51207	exon2			AGGCCCTTGTGGG	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.218A>G	10.37:g.76867899T>C	ENSP00000361787:p.Lys73Arg	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	138	57	0.413043	NM_001007271	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	37	CCDS53542.1	980	0.44871794871794873	257	0.5223577235772358	134	0.3701657458563536	362	0.6328671328671329	227	0.2994722955145119	C	24.0	4.482367	0.84747	0.486426	0.265554	ENSG00000079393	ENST00000372702	D	0.85629	-2.01	4.93	4.93	0.64822	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.00012	0.0000	N	0.05306	-0.075	0.09310	P	1.0	B	0.10296	0.003	B	0.10450	0.005	T	0.47355	-0.9124	8	0.42905	T	0.14	.	12.5486	0.56214	0.0:0.9181:0.0:0.0819	rs7912300;rs57157460;rs7912300	73	Q6B8I1	MDSP_HUMAN	R	73	ENSP00000361787:K73R	ENSP00000361787:K73R	K	-	2	0	DUSP13	76537905	0.996000	0.38824	0.994000	0.49952	0.992000	0.81027	5.371000	0.66150	1.312000	0.45043	-0.119000	0.15052	AAG	T|0.574;C|0.426	0.426	strong		0.632	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3			C	76867899	T	C	76867899	3	2	22	1	0	0	0	0	1	0	0	0	4813	1609	56	3	1252	3	DUSP13	10	76867899	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12487	76867899	58666848	5642	10750										
KCNMA1	3778	hgsc.bcm.edu	37	chr10	78944590	78944590	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaacttacccgcaagccGaagtagagaaggaagaacac	9	11	0	2	rs1131824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:78944590G>A	ENST00000286628.8	-	4	686	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCNMA1_ENST00000286627.5_Silent_p.F229F|KCNMA1_ENST00000406533.3_Silent_p.F229F|KCNMA1_ENST00000404771.3_Silent_p.F229F|KCNMA1_ENST00000354353.5_Silent_p.F229F|KCNMA1_ENST00000404857.1_Silent_p.F229F|KCNMA1_ENST00000372440.1_Silent_p.F229F|KCNMA1_ENST00000372443.1_Silent_p.F229F	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	229					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCCGCAAGCCGAAGTAGAGAA	0.468													A|||	2033	0.40595	0.705	0.2695	5008	,	,		18937	0.249		0.335	False		,,,				2504	0.3333				p.F229F		Atlas-SNP	.											.	KCNMA1	370	.	0			c.C687T						PASS	.	A	,,,	2735,1671	508.4+/-367.0	857,1021,325	155	140	145		687,687,687,687	5.3	1	10	dbSNP_86	145	3109,5491	658.9+/-401.6	549,2011,1740	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	1406,3032,2065	AA,AG,GG		36.1512,37.9256,44.9331	,,,	229/1183,229/1237,229/1220,229/1179	78944590	5844,7162	2203	4300	6503	SO:0001819	synonymous_variant	3778	exon4			CAAGCCGAAGTAG	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.687C>T	10.37:g.78944590G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_001161352	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		835|835	0.3823260073260073|0.3823260073260073	335|335	0.6808943089430894|0.6808943089430894	108|108	0.2983425414364641|0.2983425414364641	138|138	0.24125874125874125|0.24125874125874125	254|254	0.33509234828496043|0.33509234828496043	A|A	6.974|6.974	0.549742|0.549742	0.13374|0.13374	0.620744|0.620744	0.361512|0.361512	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45366|0.45366	-0.9266|-0.9266	3|3	.|.	.|.	.|.	-11.1608|-11.1608	10.553|10.553	0.45101|0.45101	0.8628:0.0:0.1372:0.0|0.8628:0.0:0.1372:0.0	rs1131824;rs2227912;rs2296678;rs3192016;rs7098260;rs17414082;rs17482985;rs41318619;rs57078861;rs1131824|rs1131824;rs2227912;rs2296678;rs3192016;rs7098260;rs17414082;rs17482985;rs41318619;rs57078861;rs1131824	.|.	.|.	.|.	W|L	218|180	.|.	.|.	R|S	-|-	1|2	2|0	KCNMA1|KCNMA1	78614596|78614596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.408000|1.408000	0.34668|0.34668	1.101000|1.101000	0.41535|0.41535	-0.254000|-0.254000	0.11334|0.11334	CGG|TCG	G|0.579;A|0.421	0.421	strong		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		A	78944590	G	A	78944590	2	1	22	1	0	0	0	0	0	0	0	1	8073	1049	37	1		1	KCNMA1	10	78944590	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2076691	78944590	56590157	5643	10751										
DLG5	9231	hgsc.bcm.edu	37	chr10	79556301	79556301	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaatcaggacaggcctcAgagcggtgcagtccaccttc					rs74140333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79556301A>G	ENST00000372391.2	-	28	5221	c.5216T>C	c.(5215-5217)cTg>cCg	p.L1739P	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.L1399P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1739	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GACAGGCCTCAGAGCGGTGCA	0.602													A|||	68	0.0135783	0.0499	0.0014	5008	,	,		20065	0.0		0.001	False		,,,				2504	0.0				p.L1739P		Atlas-SNP	.											.	DLG5	154	.	0			c.T5216C						PASS	.	A	PRO/LEU	150,4256	104.3+/-142.8	2,146,2055	100	85	90		5216	3.6	1	10	dbSNP_130	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DLG5	NM_004747.3	98	2,148,6353	GG,GA,AA		0.0233,3.4044,1.1687	benign	1739/1920	79556301	152,12854	2203	4300	6503	SO:0001583	missense	9231	exon28			GGCCTCAGAGCGG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5216T>C	10.37:g.79556301A>G	ENSP00000361467:p.Leu1739Pro	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	211	98	0.464455	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	A	12.73	2.026468	0.35701	0.034044	2.33E-4	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.20598	2.06;2.06;2.06	5.97	3.63	0.41609	Guanylate kinase/L-type calcium channel (1);	0.000000	0.31519	N	0.007516	T	0.00784	0.0026	N	0.00652	-1.29	0.58432	D	0.999999	B;B	0.10296	0.001;0.003	B;B	0.17433	0.002;0.018	T	0.31586	-0.9938	10	0.24483	T	0.36	.	4.6381	0.12534	0.5759:0.0:0.4241:0.0	.	1739;1399	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	P	1739;700;1399	ENSP00000361467:L1739P;ENSP00000394797:L700P;ENSP00000361464:L1399P	ENSP00000361464:L1399P	L	-	2	0	DLG5	79226307	1.000000	0.71417	0.970000	0.41538	0.687000	0.40016	4.450000	0.60041	1.069000	0.40788	0.533000	0.62120	CTG	A|0.989;G|0.011	0.011	strong		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			G	79556301	A	G	79556301	3	3	22	1	0	0	0	0	1	0	0	0	4558	188	7	3	563	3	DLG5	10	79556301	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	611711	79556301	55978446	5644	10752	217	2								
DLG5	9231	hgsc.bcm.edu	37	chr10	79556305	79556305	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcaggacaggcctcagagCggtgcagtccaccttctgga					rs74140334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79556305C>T	ENST00000372391.2	-	28	5217	c.5212G>A	c.(5212-5214)Gct>Act	p.A1738T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.A1398T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1738	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCCTCAGAGCGGTGCAGTCC	0.597													C|||	70	0.0139776	0.0514	0.0014	5008	,	,		19795	0.0		0.001	False		,,,				2504	0.0				p.A1738T		Atlas-SNP	.											.	DLG5	154	.	0			c.G5212A						PASS	.	C	THR/ALA	164,4242	110.4+/-148.6	2,160,2041	100	85	90		5212	2.4	0.1	10	dbSNP_130	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DLG5	NM_004747.3	58	2,162,6339	TT,TC,CC		0.0233,3.7222,1.2763	benign	1738/1920	79556305	166,12840	2203	4300	6503	SO:0001583	missense	9231	exon28			TCAGAGCGGTGCA	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5212G>A	10.37:g.79556305C>T	ENSP00000361467:p.Ala1738Thr	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	210	96	0.457143	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	C	6.638	0.486271	0.12641	0.037222	2.33E-4	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.16457	2.34;2.34;2.34	5.97	2.38	0.29361	Guanylate kinase/L-type calcium channel (1);	0.200014	0.25233	N	0.032160	T	0.00552	0.0018	N	0.03608	-0.345	0.29378	N	0.863515	B;B	0.27882	0.0;0.192	B;B	0.21360	0.0;0.034	T	0.39333	-0.9619	10	0.02654	T	1	.	8.5372	0.33371	0.6271:0.2508:0.0:0.1221	.	1738;1398	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	T	1738;699;1398	ENSP00000361467:A1738T;ENSP00000394797:A699T;ENSP00000361464:A1398T	ENSP00000361464:A1398T	A	-	1	0	DLG5	79226311	0.996000	0.38824	0.059000	0.19551	0.082000	0.17680	3.446000	0.52928	0.153000	0.19213	-0.262000	0.10625	GCT	C|0.988;T|0.012	0.012	strong		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79556305	C	T	79556305	3	4	22	1	0	0	0	0	1	0	0	0	4558	768	27	1	567	1	DLG5	10	79556305	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	79556305	55978442	5645	10753	217	2								
DLG5	9231	hgsc.bcm.edu	37	chr10	79603423	79603423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccatggccgtgtcataCagtttgttgagaatctcgga	11	8	2	1	rs12257229	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79603423C>T	ENST00000372391.2	-	6	911	c.906G>A	c.(904-906)ctG>ctA	p.L302L	DLG5_ENST00000372388.2_Silent_p.L302L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	302					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCGTGTCATACAGTTTGTTGA	0.532													C|||	497	0.0992412	0.3593	0.0274	5008	,	,		21222	0.0		0.003	False		,,,				2504	0.0				p.L302L		Atlas-SNP	.											.	DLG5	154	.	0			c.G906A						PASS	.	C		1351,3055	449.4+/-349.0	200,951,1052	180	162	168		906	2.6	1	10	dbSNP_120	168	21,8579	14.0+/-48.4	0,21,4279	no	coding-synonymous	DLG5	NM_004747.3		200,972,5331	TT,TC,CC		0.2442,30.6627,10.549		302/1920	79603423	1372,11634	2203	4300	6503	SO:0001819	synonymous_variant	9231	exon6			GTCATACAGTTTG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.906G>A	10.37:g.79603423C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	201	94	0.467662	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			C|0.888;T|0.112	0.112	strong		0.532	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79603423	C	T	79603423	2	4	22	1	0	0	0	0	0	0	0	1	4558	465	17	2		2	DLG5	10	79603423	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47118	79603423	55931324	5646	10754										
DLG5	9231	hgsc.bcm.edu	37	chr10	79616520	79616520	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgtgccatgcgtagcaaaGgccaggcgcttgcggagctc	15	13	0	0	rs12243930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79616520G>C	ENST00000372391.2	-	3	509	c.504C>G	c.(502-504)gcC>gcG	p.A168A	DLG5_ENST00000372388.2_Silent_p.A168A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	168					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCGTAGCAAAGGCCAGGCGCT	0.592													G|||	720	0.14377	0.5197	0.0432	5008	,	,		18218	0.0		0.003	False		,,,				2504	0.0				p.A168A		Atlas-SNP	.											.	DLG5	154	.	0			c.C504G						PASS	.	G		1939,2467	545.8+/-376.9	450,1039,714	46	48	47		504	4.5	1	10	dbSNP_120	47	24,8576	14.6+/-50.1	0,24,4276	no	coding-synonymous	DLG5	NM_004747.3		450,1063,4990	CC,CG,GG		0.2791,44.0082,15.093		168/1920	79616520	1963,11043	2203	4300	6503	SO:0001819	synonymous_variant	9231	exon3			AGCAAAGGCCAGG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.504C>G	10.37:g.79616520G>C		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	198	95	0.479798	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			G|0.857;C|0.143	0.143	strong		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			C	79616520	G	C	79616520	2	2	22	1	0	0	0	0	0	0	0	1	4558	987	35	4		4	DLG5	10	79616520	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13097	79616520	55918227	5647	10755										
POLR3A	11128	hgsc.bcm.edu	37	chr10	79781326	79781326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcaggaaaagttagaattTtggccacatgaactggcaca	9	8	1	2	rs550436426		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79781326T>C	ENST00000372371.3	-	8	1300	c.1163A>G	c.(1162-1164)aAa>aGa	p.K388R	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	388					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGTTAGAATTTTGGCCACATG	0.423													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18712	0.0		0.0	False		,,,				2504	0.0				p.K388R		Atlas-SNP	.											.	POLR3A	104	.	0			c.A1163G						PASS	.						74	71	72					10																	79781326		2203	4300	6503	SO:0001583	missense	11128	exon8			AGAATTTTGGCCA	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1163A>G	10.37:g.79781326T>C	ENSP00000361446:p.Lys388Arg	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845255	0.91197	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68331	-0.32	5.58	5.58	0.84498	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.41906	1.305	0.80722	D	1	P	0.46578	0.88	B	0.44133	0.442	T	0.61705	-0.7008	9	.	.	.	-24.6898	16.0507	0.80760	0.0:0.0:0.0:1.0	.	388	O14802	RPC1_HUMAN	R	388	ENSP00000361446:K388R	.	K	-	2	0	POLR3A	79451332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	2.243000	0.73865	0.528000	0.53228	AAA	.	.	none		0.423	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		C	79781326	T	C	79781326	3	2	22	1	0	0	0	0	1	0	0	0	12228	1841	64	2	3105	2	POLR3A	10	79781326	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	164806	79781326	55753421	5648	10756										
RPS24	6229	hgsc.bcm.edu	37	chr10	79814747	79814747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctccccaccttcctgCctctctggtctgggccacta	7	18	3	0	rs76653255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:79814747C>T	ENST00000440692.1	+	5	991	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			caccttcctgcctctctggtc	0.542													C|||	318	0.0634984	0.2231	0.0202	5008	,	,		17984	0.0		0.0089	False		,,,				2504	0.0				p.C283C		Atlas-SNP	.											.	RPS24	23	.	0			c.C849T						PASS	.	C		237,1147		17,203,472	37	35	35		849	-4.1	0	10	dbSNP_132	35	7,3175		0,7,1584	yes	coding-synonymous	RPS24	NM_001142285.1		17,210,2056	TT,TC,CC		0.22,17.1243,5.3438		283/290	79814747	244,4322	692	1591	2283	SO:0001819	synonymous_variant	6229	exon5			TTCCTGCCTCTCT	AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"S ribosomal proteins"	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.849C>T	10.37:g.79814747C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	108	55	0.509259	NM_001142285	E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Silent	SNP	ENST00000440692.1	37	CCDS44443.1																																																																																			C|0.947;T|0.053	0.053	strong		0.542	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026		T	79814747	C	T	79814747	2	4	22	1	0	0	0	0	0	0	0	1	13635	747	26	2		2	RPS24	10	79814747	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33421	79814747	55720000	5649	10757										
ANXA11	311	hgsc.bcm.edu	37	chr10	81926702	81926702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgctgcttgttggagcGactccccaggcagtcaatga	12	13	1	1	rs1049550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:81926702G>A	ENST00000438331.1	-	8	1170	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	ANXA11_ENST00000535999.1_Missense_Mutation_p.R230C|ANXA11_ENST00000422982.3_Missense_Mutation_p.R230C|ANXA11_ENST00000360615.4_Missense_Mutation_p.R230C|ANXA11_ENST00000265447.4_Missense_Mutation_p.R230C|ANXA11_ENST00000372231.3_Missense_Mutation_p.R230C|ANXA11_ENST00000537102.1_Missense_Mutation_p.R197C	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	230			R -> C (in dbSNP:rs1049550).		cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTGTTGGAGCGACTCCCCAGG	0.637													.|||	1964	0.392173	0.1551	0.4654	5008	,	,		14900	0.6429		0.4503	False		,,,				2504	0.3425				p.R230C		Atlas-SNP	.											.	ANXA11	32	.	0			c.C688T	GRCh37	CM064971	ANXA11	M	rs1049550	PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	891,3515		93,705,1405	58	49	52	http://omim.org/entry/612388	688,688,688	4.3	1	10	dbSNP_86	52	3521,5079		740,2041,1519	yes	missense,missense,missense	ANXA11	NM_001157.2,NM_145868.1,NM_145869.1	180,180,180	833,2746,2924	AA,AG,GG		40.9419,20.2224,33.9228	probably-damaging,probably-damaging,probably-damaging	230/506,230/506,230/506	81926702	4412,8594	2203	4300	6503	SO:0001583	missense	311	exon7			TGGAGCGACTCCC	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.688C>T	10.37:g.81926702G>A	ENSP00000398610:p.Arg230Cys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	39	18	0.461538	NM_145868	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	927	0.42445054945054944	72	0.14634146341463414	152	0.4198895027624309	370	0.6468531468531469	333	0.4393139841688654	.	24.1	4.488911	0.84962	0.202224	0.409419	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64;2.64	5.26	4.35	0.52113	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.96833	3.89	0.09310	P	0.9999999781241	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.45026	-0.9289	9	0.72032	D	0.01	.	9.1797	0.37134	0.0:0.16:0.6742:0.1658	rs1049550;rs1802933;rs2070070;rs2228426;rs3189725;rs17676239;rs52830790;rs1049550	330;230;230	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	C	230;230;230;230;230;230;230;137;197	ENSP00000361305:R230C;ENSP00000404412:R230C;ENSP00000398610:R230C;ENSP00000353827:R230C;ENSP00000265447:R230C;ENSP00000441748:R230C;ENSP00000441400:R197C	ENSP00000265447:R230C	R	-	1	0	ANXA11	81916682	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	7.474000	0.81024	1.360000	0.45960	0.561000	0.74099	CGC	G|0.630;T|0.004	.	strong		0.637	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		A	81926702	G	A	81926702	3	1	22	1	0	0	0	0	1	0	0	0	716	1058	37	1	869	1	ANXA11	10	81926702	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2111955	81926702	53608045	5650	10758										
MAT1A	4143	hgsc.bcm.edu	37	chr10	82034842	82034842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccagcgggcagcatatgcAgctgagcggtctaccttggt	13	12	1	1	rs10887711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:82034842A>G	ENST00000372213.3	-	7	1142	c.882T>C	c.(880-882)gcT>gcC	p.A294A	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	294					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCATATGCAGCTGAGCGGT	0.607													G|||	4209	0.840455	0.9266	0.7781	5008	,	,		16178	0.9712		0.6412	False		,,,				2504	0.8384				p.A294A		Atlas-SNP	.											MAT1A,NS,carcinoma,0,1	MAT1A	52	1	0			c.T882C						PASS	.	G		3831,573		1675,481,46	33	34	34		882	-10	0	10	dbSNP_120	34	5359,3235		1696,1967,634	no	coding-synonymous	MAT1A	NM_000429.2		3371,2448,680	GG,GA,AA		37.6425,13.0109,29.2968		294/396	82034842	9190,3808	2202	4297	6499	SO:0001819	synonymous_variant	4143	exon7			ATATGCAGCTGAG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.882T>C	10.37:g.82034842A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_000429	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			A|0.229;G|0.771	0.771	strong		0.607	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		G	82034842	A	G	82034842	2	3	22	1	0	0	0	0	0	0	0	1	9329	175	7	3		3	MAT1A	10	82034842	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	108140	82034842	53499905	5651	10759										
MAT1A	4143	hgsc.bcm.edu	37	chr10	82034854	82034854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatatgcagctgagcggtcTaccttggtgtagtccttccc	11	12	1	1	rs10788546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:82034854T>C	ENST00000372213.3	-	7	1130	c.870A>G	c.(868-870)gtA>gtG	p.V290V	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	290					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGAGCGGTCTACCTTGGTGT	0.617													C|||	4211	0.840855	0.9266	0.7781	5008	,	,		15774	0.9712		0.6412	False		,,,				2504	0.8405				p.V290V		Atlas-SNP	.											.	MAT1A	52	.	0			c.A870G						PASS	.	C		3841,561		1681,479,41	39	39	39		870	4.1	1	10	dbSNP_120	39	5379,3217		1700,1979,619	no	coding-synonymous	MAT1A	NM_000429.2		3381,2458,660	CC,CT,TT		37.4244,12.7442,29.066		290/396	82034854	9220,3778	2201	4298	6499	SO:0001819	synonymous_variant	4143	exon7			GCGGTCTACCTTG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.870A>G	10.37:g.82034854T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	52	51	0.980769	NM_000429	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			T|0.235;C|0.765	0.765	strong		0.617	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		C	82034854	T	C	82034854	2	2	22	1	0	0	0	0	0	0	0	1	9329	1509	53	3		3	MAT1A	10	82034854	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12	82034854	53499893	5652	10760										
MAT1A	4143	hgsc.bcm.edu	37	chr10	82040052	82040052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcctctgtctcgtcggtAgcatagccgaacatcaaacc	7	15	3	0	rs1143694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:82040052A>G	ENST00000372213.3	-	5	686	c.426T>C	c.(424-426)gcT>gcC	p.A142A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	142					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCGTCGGTAGCATAGCCGA	0.627													G|||	4324	0.863419	0.9743	0.7968	5008	,	,		17860	0.9722		0.669	False		,,,				2504	0.8487				p.A142A		Atlas-SNP	.											.	MAT1A	52	.	0			c.T426C						PASS	.	G		4058,348	181.5+/-209.5	1870,318,15	72	71	71		426	2.2	0.9	10	dbSNP_86	71	5676,2924	456.3+/-364.0	1904,1868,528	no	coding-synonymous	MAT1A	NM_000429.2		3774,2186,543	GG,GA,AA		34.0,7.8983,25.1576		142/396	82040052	9734,3272	2203	4300	6503	SO:0001819	synonymous_variant	4143	exon5			GTCGGTAGCATAG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.426T>C	10.37:g.82040052A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_000429	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			A|0.209;G|0.791	0.791	strong		0.627	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		G	82040052	A	G	82040052	2	3	22	1	0	0	0	0	0	0	0	1	9329	407	15	3		3	MAT1A	10	82040052	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5198	82040052	53494695	5653	10761										
GHITM	27069	hgsc.bcm.edu	37	chr10	85902479	85902479	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaactcaaagaggcagcAttggaaccatcgatggaaaa	10	8	1	2	rs146877821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:85902479A>T	ENST00000372134.3	+	3	391	c.198A>T	c.(196-198)gcA>gcT	p.A66A	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	66					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						AAGAGGCAGCATTGGAACCAT	0.408													A|||	29	0.00579073	0.0212	0.0014	5008	,	,		15827	0.0		0.0	False		,,,				2504	0.0				p.A66A		Atlas-SNP	.											.	GHITM	30	.	0			c.A198T						PASS	.	A		53,3701		0,53,1824	100	102	101		198	-9.6	0	10	dbSNP_134	101	0,8224		0,0,4112	no	coding-synonymous	GHITM	NM_014394.2		0,53,5936	TT,TA,AA		0.0,1.4118,0.4425		66/346	85902479	53,11925	1877	4112	5989	SO:0001819	synonymous_variant	27069	exon3			GGCAGCATTGGAA	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.198A>T	10.37:g.85902479A>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	97	46	0.474227	NM_014394	A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	CCDS41542.1																																																																																			A|0.995;T|0.005	0.005	strong		0.408	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		T	85902479	A	T	85902479	2	4	22	1	0	0	0	0	0	0	0	1	6370	204	8	5		5	GHITM	10	85902479	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3862427	85902479	49632268	5654	10762										
LRIT2	340745	hgsc.bcm.edu	37	chr10	85981756	85981756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgtcatcacagacagctgGatgttctctaaaggagccat	9	11	3	1	rs74145770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:85981756G>T	ENST00000372113.4	-	3	1578	c.1573C>A	c.(1573-1575)Cca>Aca	p.P525T	LRIT2_ENST00000538192.1_Missense_Mutation_p.P535T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	525						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGACAGCTGGATGTTCTCTA	0.592													G|||	227	0.0453275	0.1672	0.0086	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.0				p.P525T		Atlas-SNP	.											.	LRIT2	81	.	0			c.C1573A						PASS	.	G	THR/PRO	600,3806	252.1+/-258.6	50,500,1653	117	105	109		1573	-5.7	0	10	dbSNP_130	109	18,8582	12.6+/-44.7	0,18,4282	yes	missense	LRIT2	NM_001017924.2	38	50,518,5935	TT,TG,GG		0.2093,13.6178,4.7517	benign	525/551	85981756	618,12388	2203	4300	6503	SO:0001583	missense	340745	exon3			CAGCTGGATGTTC		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1573C>A	10.37:g.85981756G>T	ENSP00000361185:p.Pro525Thr	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	208	119	0.572115	NM_001017924	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	91	0.041666666666666664	87	0.17682926829268292	4	0.011049723756906077	0	0.0	0	0.0	G	0.610	-0.825514	0.02734	0.136178	0.002093	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.16597	2.33;2.33	4.57	-5.65	0.02459	.	1.918670	0.02557	N	0.096284	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.31336	-0.9947	9	0.13108	T	0.6	.	3.6424	0.08172	0.1993:0.4518:0.2433:0.1056	.	535;525	B7ZME6;A6NDA9	.;LRIT2_HUMAN	T	525;535	ENSP00000361185:P525T;ENSP00000438264:P535T	ENSP00000361185:P525T	P	-	1	0	LRIT2	85971736	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.226000	0.09139	-1.353000	0.02191	0.655000	0.94253	CCA	G|0.957;T|0.043	0.043	strong		0.592	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		T	85981756	G	T	85981756	3	4	22	1	0	0	0	0	1	0	0	0	8948	1174	41	4	83	4	LRIT2	10	85981756	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79277	85981756	49552991	5655	10763										
LRIT2	340745	hgsc.bcm.edu	37	chr10	85982075	85982075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaggaggtcatccacagcAtaagtattgattccggggcc	13	9	1	1	rs7901410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:85982075A>G	ENST00000372113.4	-	3	1259	c.1254T>C	c.(1252-1254)taT>taC	p.Y418Y	LRIT2_ENST00000538192.1_Silent_p.Y428Y	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	418	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CATCCACAGCATAAGTATTGA	0.537													A|||	227	0.0453275	0.1672	0.0086	5008	,	,		21319	0.0		0.0	False		,,,				2504	0.0				p.Y418Y		Atlas-SNP	.											.	LRIT2	81	.	0			c.T1254C						PASS	.	A		602,3804	265.9+/-266.9	50,502,1651	121	114	116		1254	-10.1	0	10	dbSNP_116	116	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous	LRIT2	NM_001017924.2		50,520,5933	GG,GA,AA		0.2093,13.6632,4.767		418/551	85982075	620,12386	2203	4300	6503	SO:0001819	synonymous_variant	340745	exon3			CACAGCATAAGTA		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1254T>C	10.37:g.85982075A>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_001017924	B7ZME6	Silent	SNP	ENST00000372113.4	37	CCDS31234.1																																																																																			A|0.945;G|0.055	0.055	strong		0.537	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		G	85982075	A	G	85982075	2	3	22	1	0	0	0	0	0	0	0	1	8948	224	8	2		2	LRIT2	10	85982075	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	319	85982075	49552672	5656	10764										
LRIT1	26103	hgsc.bcm.edu	37	chr10	85992390	85992390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagtggccaggacagcggGtttgggaatctgggggacat	17	8	1	0	rs12262099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:85992390G>T	ENST00000372105.3	-	4	1186	c.1165C>A	c.(1165-1167)Ccc>Acc	p.P389T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	389			P -> T (in dbSNP:rs12262099).			integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGACAGCGGGTTTGGGAATC	0.617													G|||	968	0.193291	0.5507	0.1081	5008	,	,		19158	0.0417		0.0378	False		,,,				2504	0.0869				p.P389T		Atlas-SNP	.											.	LRIT1	73	.	0			c.C1165A						PASS	.	G	THR/PRO	2073,2333	545.5+/-376.8	497,1079,627	59	48	51		1165	2.8	0	10	dbSNP_120	51	381,8219	122.4+/-181.4	4,373,3923	yes	missense	LRIT1	NM_015613.2	38	501,1452,4550	TT,TG,GG		4.4302,47.0495,18.8682	benign	389/624	85992390	2454,10552	2203	4300	6503	SO:0001583	missense	26103	exon4			CAGCGGGTTTGGG	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1165C>A	10.37:g.85992390G>T	ENSP00000361177:p.Pro389Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	143	56	0.391608	NM_015613	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	370	0.16941391941391942	260	0.5284552845528455	42	0.11602209944751381	26	0.045454545454545456	42	0.055408970976253295	G	0.586	-0.834861	0.02713	0.470495	0.044302	ENSG00000148602	ENST00000372105	T	0.35236	1.32	5.66	2.78	0.32641	.	0.653998	0.15885	N	0.239854	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.19445	0.036	B	0.06405	0.002	T	0.45116	-0.9283	9	0.05525	T	0.97	.	9.0016	0.36085	0.3071:0.0:0.6929:0.0	rs12262099;rs52819914;rs57593568;rs12262099	389	Q9P2V4	LRIT1_HUMAN	T	389	ENSP00000361177:P389T	ENSP00000361177:P389T	P	-	1	0	LRIT1	85982370	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-0.135000	0.10420	0.317000	0.23160	0.655000	0.94253	CCC	G|0.815;T|0.185	0.185	strong		0.617	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		T	85992390	G	T	85992390	3	4	22	1	0	0	0	0	1	0	0	0	8947	1261	44	4	710	4	LRIT1	10	85992390	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10315	85992390	49542357	5657	10765										
LRIT1	26103	hgsc.bcm.edu	37	chr10	85993923	85993923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtagcagtgctgtgccaccCaaaagggacctgatgctggc	13	12	0	1	rs149121025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:85993923C>T	ENST00000372105.3	-	3	822	c.801G>A	c.(799-801)ttG>ttA	p.L267L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	267	Ig-like C2-type.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGTGCCACCCAAAAGGGACC	0.622													C|||	11	0.00219649	0.0083	0.0	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.0				p.L267L		Atlas-SNP	.											LRIT1,NS,haematopoietic_neoplasm,0,1	LRIT1	73	1	0			c.G801A						PASS	.	C		27,4379	34.3+/-65.2	0,27,2176	73	72	72		801	5.9	1	10	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	LRIT1	NM_015613.2		0,27,6476	TT,TC,CC		0.0,0.6128,0.2076		267/624	85993923	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	26103	exon3			GCCACCCAAAAGG	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.801G>A	10.37:g.85993923C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_015613	Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	CCDS7373.1																																																																																			C|0.998;T|0.002	0.002	strong		0.622	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		T	85993923	C	T	85993923	2	4	22	1	0	0	0	0	0	0	0	1	8947	593	21	2		2	LRIT1	10	85993923	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1533	85993923	49540824	5658	10766										
RGR	5995	hgsc.bcm.edu	37	chr10	86012713	86012713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctgggttggggtcactaCgactatgagccactggggac	14	10	2	1	rs1042454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:86012713C>T	ENST00000359452.4	+	4	509	c.471C>T	c.(469-471)taC>taT	p.Y157Y	RGR_ENST00000358110.5_Silent_p.Y153Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	153					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.Y157Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GGGGTCACTACGACTATGAGC	0.602													T|||	2520	0.503195	0.8548	0.4841	5008	,	,		16744	0.3313		0.3588	False		,,,				2504	0.3671				p.Y157Y	NSCLC(15;204 545 5889 6385 32445)	Atlas-SNP	.											RGR,NS,adenoma,0,2	RGR	42	2	1	Substitution - coding silent(1)	stomach(1)	c.C471T						PASS	.	T	,,	3437,969	364.1+/-316.8	1366,705,132	92	71	78		459,459,471	2.6	1	10	dbSNP_86	78	3133,5467	656.7+/-401.4	552,2029,1719	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	1918,2734,1851	TT,TC,CC		36.4302,21.9927,49.4849	,,	153/292,153/254,157/296	86012713	6570,6436	2203	4300	6503	SO:0001819	synonymous_variant	5995	exon4			TCACTACGACTAT	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.471C>T	10.37:g.86012713C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_002921	A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	CCDS7374.1																																																																																			C|0.502;T|0.498	0.498	strong		0.602	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		T	86012713	C	T	86012713	2	4	22	1	0	0	0	0	0	0	0	1	13291	547	19	1		1	RGR	10	86012713	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18790	86012713	49522034	5659	10767										
GRID1	2894	hgsc.bcm.edu	37	chr10	88126072	88126072	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctccagccgcgcttaccGatgtggatgatggagtcggc	15	12	0	1	rs61856638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88126072G>A	ENST00000327946.7	-	1	163	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	26					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGCGCTTACCGATGTGGATGA	0.716										Multiple Myeloma(13;0.14)			G|||	1721	0.34365	0.5219	0.1398	5008	,	,		6767	0.5218		0.172	False		,,,				2504	0.2403				p.I26I		Atlas-SNP	.											.	GRID1	204	.	0			c.C78T						PASS	.	G		1885,2343		423,1039,652	10	9	10		78	2.2	1	10	dbSNP_129	10	1203,7105		112,979,3063	yes	coding-synonymous-near-splice	GRID1	NM_017551.2		535,2018,3715	AA,AG,GG		14.48,44.5837,24.6331		26/1010	88126072	3088,9448	2114	4154	6268	SO:0001630	splice_region_variant	2894	exon1			CTTACCGATGTGG	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.79+1C>T	10.37:g.88126072G>A		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	25	16	0.64	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																			G|0.654;A|0.346	0.346	strong		0.716	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	Silent	A	88126072	G	A	88126072	5	1	22	1	0	0	0	0	0	0	1	0	6771	1072	37	1	3015	1	GRID1	10	88126072	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2113359	88126072	47408675	5660	10768										
OPN4	94233	hgsc.bcm.edu	37	chr10	88416963	88416963	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaacagagctgtgcttcGtggagtcactgtgatgatgc	13	8	1	3	rs7901458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88416963G>A	ENST00000241891.5	+	3	457				OPN4_ENST00000372071.2_Missense_Mutation_p.R101H	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						gctgtgcttcgtggagtcact	0.542													G|||	236	0.0471246	0.1346	0.0144	5008	,	,		22029	0.0119		0.0149	False		,,,				2504	0.0215				p.R101H		Atlas-SNP	.											OPN4,NS,carcinoma,+1,1	OPN4	61	1	0			c.G302A						PASS	.	G	HIS/ARG,	500,3906	230.7+/-244.8	27,446,1730	235	162	187		302,	-4.8	0	10	dbSNP_116	187	140,8460	69.4+/-131.9	1,138,4161	yes	missense,intron	OPN4	NM_001030015.2,NM_033282.3	29,	28,584,5891	AA,AG,GG		1.6279,11.3482,4.9208	benign,	101/490,	88416963	640,12366	2203	4300	6503	SO:0001627	intron_variant	94233	exon3			TGCTTCGTGGAGT	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.291-826G>A	10.37:g.88416963G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	113	50	0.442478	NM_001030015	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	91	0.041666666666666664	73	0.1483739837398374	6	0.016574585635359115	5	0.008741258741258742	7	0.009234828496042216	G	9.031	0.987272	0.18889	0.113482	0.016279	ENSG00000122375	ENST00000372071;ENST00000443292	T;T	0.19938	2.11;2.11	3.66	-4.79	0.03200	.	2.203020	0.03070	N	0.157117	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	9	0.25751	T	0.34	.	1.278	0.02034	0.2835:0.1229:0.1084:0.4851	rs7901458;rs56530469;rs7901458	101;101	C9JWU6;Q9UHM6-2	.;.	H	101	ENSP00000361141:R101H;ENSP00000393132:R101H	ENSP00000361141:R101H	R	+	2	0	OPN4	88406943	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.680000	0.01939	-0.849000	0.04158	-0.247000	0.11927	CGT	G|0.949;A|0.051	0.051	strong		0.542	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88416963	G	A	88416963	1	1	22	0	1	0	0	0	0	0	0	0	10882	1145	40	1		1	OPN4	10	88416963	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	290891	88416963	47117784	5661	10769										
OPN4	94233	hgsc.bcm.edu	37	chr10	88421041	88421041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccttctctgtcctaggtaCgcacacgtcctgacacccta	6	17	1	1	rs7478092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88421041C>T	ENST00000241891.5	+	7	1136	c.969C>T	c.(967-969)taC>taT	p.Y323Y	OPN4_ENST00000372071.2_Silent_p.Y334Y	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	323					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GTCCTAGGTACGCACACGTCC	0.587													C|||	375	0.0748802	0.1762	0.0259	5008	,	,		18007	0.0357		0.0169	False		,,,				2504	0.0726				p.Y334Y		Atlas-SNP	.											.	OPN4	61	.	0			c.C1002T						PASS	.	C	,	681,3725	286.0+/-278.5	50,581,1572	219	153	175		1002,969	-3.2	0.1	10	dbSNP_116	175	146,8454	71.0+/-133.6	1,144,4155	no	coding-synonymous,coding-synonymous	OPN4	NM_001030015.2,NM_033282.3	,	51,725,5727	TT,TC,CC		1.6977,15.4562,6.3586	,	334/490,323/479	88421041	827,12179	2203	4300	6503	SO:0001819	synonymous_variant	94233	exon8			TAGGTACGCACAC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.969C>T	10.37:g.88421041C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_001030015	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	CCDS7376.1																																																																																			C|0.934;T|0.066	0.066	strong		0.587	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		T	88421041	C	T	88421041	2	4	22	1	0	0	0	0	0	0	0	1	10882	547	19	1		1	OPN4	10	88421041	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4078	88421041	47113706	5662	10770										
LDB3	11155	hgsc.bcm.edu	37	chr10	88446985	88446985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaggatgccatcatggaTgccatcgctgggcaggccca	12	14	1	0	rs76615432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88446985T>C	ENST00000372066.3	+	5	583	c.504T>C	c.(502-504)gaT>gaC	p.D168D	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Silent_p.D283D|LDB3_ENST00000263066.6_Silent_p.D168D|LDB3_ENST00000458213.2_Silent_p.D168D|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Silent_p.D283D|LDB3_ENST00000310944.6_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCATCATGGATGCCATCGCTG	0.622													C|||	284	0.0567093	0.1498	0.0245	5008	,	,		20082	0.005		0.0288	False		,,,				2504	0.0358				p.D283D		Atlas-SNP	.											.	LDB3	164	.	0			c.T849C						PASS	.	C	,,,,,	593,3763		39,515,1624	101	117	112		504,,504,849,849,	-1.1	1	10	dbSNP_132	112	347,8177		11,325,3926	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,intron	LDB3	NM_001080114.1,NM_001080115.1,NM_001080116.1,NM_001171610.1,NM_001171611.1,NM_007078.2	,,,,,	50,840,5550	CC,CT,TT		4.0709,13.6134,7.2981	,,,,,	168/618,,168/284,283/733,283/399,	88446985	940,11940	2178	4262	6440	SO:0001819	synonymous_variant	11155	exon6			CATGGATGCCATC	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.504T>C	10.37:g.88446985T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	138	69	0.5	NM_001171610		Silent	SNP	ENST00000372066.3	37	CCDS41545.1																																																																																			T|0.954;C|0.046	0.046	strong		0.622	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			C	88446985	T	C	88446985	2	2	22	1	0	0	0	0	0	0	0	1	8697	1461	51	2		2	LDB3	10	88446985	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	25944	88446985	47087762	5663	10771										
LDB3	11155	hgsc.bcm.edu	37	chr10	88476458	88476458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccacttgccagggggaccGtccagagggctgagcgattc	14	13	0	2	rs113817827		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88476458G>A	ENST00000361373.4	+	9	1627	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	LDB3_ENST00000352360.5_Missense_Mutation_p.V279I|LDB3_ENST00000429277.2_Missense_Mutation_p.V541I|LDB3_ENST00000263066.6_Missense_Mutation_p.V426I|LDB3_ENST00000458213.2_Missense_Mutation_p.V426I	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAGGGGGACCGTCCAGAGGGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		13034	0.001		0.0	False		,,,				2504	0.0				p.V541I		Atlas-SNP	.											.	LDB3	164	.	0			c.G1621A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	33	33	33		1276,1621,1606	-0.3	0.9	10	dbSNP_132	33	0,8600		0,0,4300	no	missense,missense,missense	LDB3	NM_001080114.1,NM_001171610.1,NM_007078.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	426/618,541/733,536/728	88476458	2,13004	2203	4300	6503	SO:0001583	missense	11155	exon10			GGGACCGTCCAGA	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1606G>A	10.37:g.88476458G>A	ENSP00000355296:p.Val536Ile	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	235	105	0.446809	NM_001171610		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.41	2.227523	0.39399	4.54E-4	0.0	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54279	0.82;0.67;0.61;0.67;0.58	4.85	-0.331	0.12679	.	0.302757	0.18155	N	0.149948	T	0.21509	0.0518	N	0.05124	-0.11	0.80722	D	1	B;B;B;P;B	0.38729	0.001;0.003;0.0;0.644;0.0	B;B;B;B;B	0.32805	0.001;0.004;0.001;0.153;0.0	T	0.02852	-1.1102	10	0.35671	T	0.21	.	4.289	0.10869	0.1864:0.0:0.2957:0.5179	.	541;457;279;536;426	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	I	457;541;426;279;426;536	ENSP00000401437:V541I;ENSP00000409148:V426I;ENSP00000263067:V279I;ENSP00000263066:V426I;ENSP00000355296:V536I	ENSP00000263066:V426I	V	+	1	0	LDB3	88466438	0.975000	0.34042	0.879000	0.34478	0.874000	0.50279	1.816000	0.38992	0.095000	0.17434	0.555000	0.69702	GTC	G|0.998;A|0.002	0.002	strong		0.667	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			A	88476458	G	A	88476458	3	1	22	1	0	0	0	0	1	0	0	0	8697	1145	40	1	1976	1	LDB3	10	88476458	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29473	88476458	47058289	5664	10772										
FAM35A	54537	hgsc.bcm.edu	37	chr10	88912541	88912541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttagcaacagttacagtaaTtgatcaatcagaaactaaga	6	6	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:88912541T>G	ENST00000298784.1	+	3	1544	c.1430T>G	c.(1429-1431)aTt>aGt	p.I477S	FAM35A_ENST00000298786.4_Missense_Mutation_p.I477S|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	477								p.I477S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTTACAGTAATTGATCAATCA	0.378																																					p.I477S	Ovarian(175;703 2004 25460 32514 43441)	Atlas-SNP	.											FAM35A,NS,carcinoma,0,1	FAM35A	48	1	1	Substitution - Missense(1)	prostate(1)	c.T1430G						scavenged	.						41	42	42					10																	88912541		2197	4279	6476	SO:0001583	missense	54537	exon3			CAGTAATTGATCA	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1430T>G	10.37:g.88912541T>G	ENSP00000298784:p.Ile477Ser	Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	343	12	0.0349854	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	4.685|4.685	0.127308|0.127308	0.08981|0.08981	.|.	.|.	ENSG00000122376|ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313|ENST00000342900	T;T;T|.	0.64260|.	-0.09;-0.09;-0.09|.	3.92|3.92	-1.26|-1.26	0.09376|0.09376	.|.	1.097140|.	0.07191|.	N|.	0.855695|.	T|T	0.34861|0.34861	0.0912|0.0912	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.32829|.	0.386|.	B|.	0.31101|.	0.124|.	T|T	0.36163|0.36163	-0.9759|-0.9759	9|4	0.37606|.	T|.	0.19|.	-0.8006|-0.8006	10.715|10.715	0.46006|0.46006	0.0:0.4414:0.0:0.5586|0.0:0.4414:0.0:0.5586	.|.	477|.	Q86V20|.	FA35A_HUMAN|.	S|K	477|131	ENSP00000298786:I477S;ENSP00000298784:I477S;ENSP00000351064:I477S|.	ENSP00000298784:I477S|.	I|N	+|+	2|3	0|2	FAM35A|FAM35A	88902521|88902521	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.938000|0.938000	0.57974|0.57974	-0.111000|-0.111000	0.10807|0.10807	-0.121000|-0.121000	0.11787|0.11787	0.438000|0.438000	0.28831|0.28831	ATT|AAT	.	.	none		0.378	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88912541	T	G	88912541	3	3	22	1	0	0	0	0	1	0	0	0	5553	1493	52	5	1432	5	FAM35A	10	88912541	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	436083	88912541	46622206	5665	10773										
MINPP1	9562	hgsc.bcm.edu	37	chr10	89312046	89312046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttaccactgtgaaaatgcTaagactcctaaagaacaatt	5	9	0	3	rs2233169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:89312046T>C	ENST00000371996.4	+	5	1316	c.1275T>C	c.(1273-1275)gcT>gcC	p.A425A	MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A224A|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	425					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GTGAAAATGCTAAGACTCCTA	0.368													T|||	142	0.0283546	0.0998	0.0086	5008	,	,		20648	0.0		0.002	False		,,,				2504	0.002				p.A425A		Atlas-SNP	.											.	MINPP1	22	.	0			c.T1275C						PASS	.	T	,,	354,4052	181.5+/-209.5	14,326,1863	126	123	124		,672,1275	-4.7	1	10	dbSNP_98	124	11,8589	7.7+/-29.5	0,11,4289	no	utr-3,coding-synonymous,coding-synonymous	MINPP1	NM_001178117.1,NM_001178118.1,NM_004897.4	,,	14,337,6152	CC,CT,TT		0.1279,8.0345,2.8064	,,	,224/287,425/488	89312046	365,12641	2203	4300	6503	SO:0001819	synonymous_variant	9562	exon5			AAATGCTAAGACT	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1275T>C	10.37:g.89312046T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	137	61	0.445255	NM_004897	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	ENST00000371996.4	37	CCDS7384.1																																																																																			T|0.975;C|0.025	0.025	strong		0.368	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			C	89312046	T	C	89312046	2	2	22	1	0	0	0	0	0	0	0	1	9588	1509	53	3		3	MINPP1	10	89312046	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	399505	89312046	46222701	5666	10774										
LIPF	8513	hgsc.bcm.edu	37	chr10	90433345	90433345	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagtgcctttatttttcagTttatatttggtgacaaaata	6	4	1	1	rs6586145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:90433345T>A	ENST00000238983.4	+	7	716	c.670T>A	c.(670-672)Ttt>Att	p.F224I	LIPF_ENST00000355843.2_Splice_Site_p.F201I|LIPF_ENST00000394375.3_Splice_Site_p.F234I|LIPF_ENST00000608620.1_Splice_Site_p.F191I	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	224			F -> I (in dbSNP:rs6586145). {ECO:0000269|Ref.4}.		lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TATTTTTCAGTTTATATTTGG	0.373													A|||	669	0.133586	0.2753	0.0793	5008	,	,		19782	0.1419		0.0626	False		,,,				2504	0.045				p.F234I		Atlas-SNP	.											.	LIPF	62	.	0			c.T700A						PASS	.	A	ILE/PHE,ILE/PHE,ILE/PHE,ILE/PHE	1077,3327	722.4+/-409.3	140,797,1265	148	154	152		571,700,601,670	-10.6	0	10	dbSNP_116	152	701,7895	787.3+/-407.6	27,647,3624	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	LIPF	NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3	21,21,21,21	167,1444,4889	AA,AT,TT		8.155,24.455,13.6769	benign,benign,benign,benign	191/366,234/409,201/376,224/399	90433345	1778,11222	2202	4298	6500	SO:0001630	splice_region_variant	8513	exon8			TTTCAGTTTATAT	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.670-1T>A	10.37:g.90433345T>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	140	74	0.528571	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	261	0.11950549450549451	115	0.23373983739837398	37	0.10220994475138122	63	0.11013986013986014	46	0.06068601583113457	A	12.75	2.031527	0.35797	0.24455	0.08155	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.70631	-0.5;-0.5;-0.5	5.32	-10.6	0.00265	Alpha/beta hydrolase fold-1 (1);	1.890000	0.02357	N	0.076489	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	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	0.02450	-1.1157	8	.	.	.	-0.8645	6.7281	0.23369	0.1059:0.4165:0.3392:0.1384	rs6586145;rs17287100;rs52816421;rs6586145	191;234;201;224	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	I	234;224;191	ENSP00000377900:F234I;ENSP00000238983:F224I;ENSP00000348101:F191I	.	F	+	1	0	LIPF	90423325	0.000000	0.05858	0.000000	0.03702	0.447000	0.32167	-3.313000	0.00516	-3.715000	0.00116	-0.257000	0.10917	TTT	T|0.872;A|0.128	0.128	strong		0.373	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		Missense_Mutation	A	90433345	T	A	90433345	5	1	22	1	0	0	0	0	0	0	1	0	8822	1739	60	5	692	5	LIPF	10	90433345	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1121299	90433345	45101402	5667	10775										
LIPF	8513	hgsc.bcm.edu	37	chr10	90438207	90438207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgtgttttctagtcccaAcctccctactacaatgtgac	5	13	2	1	rs1228187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:90438207A>G	ENST00000238983.4	+	10	1012	c.966A>G	c.(964-966)caA>caG	p.Q322Q	LIPF_ENST00000355843.2_Silent_p.Q299Q|LIPF_ENST00000394375.3_Silent_p.Q332Q|LIPF_ENST00000608620.1_Silent_p.Q289Q	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	322					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TCTAGTCCCAACCTCCCTACT	0.448													A|||	1144	0.228435	0.1248	0.3069	5008	,	,		19364	0.3274		0.2107	False		,,,				2504	0.229				p.Q332Q		Atlas-SNP	.											.	LIPF	62	.	0			c.A996G						PASS	.	A	,,,	618,3788	268.9+/-268.7	43,532,1628	186	170	175		867,996,897,966	-9.7	0	10	dbSNP_87	175	1777,6823	321.5+/-315.1	196,1385,2719	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LIPF	NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3	,,,	239,1917,4347	GG,GA,AA		20.6628,14.0263,18.4146	,,,	289/366,332/409,299/376,322/399	90438207	2395,10611	2203	4300	6503	SO:0001819	synonymous_variant	8513	exon11			GTCCCAACCTCCC	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.966A>G	10.37:g.90438207A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	143	72	0.503497	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	CCDS7389.1																																																																																			A|0.799;G|0.201	0.201	strong		0.448	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			G	90438207	A	G	90438207	2	3	22	1	0	0	0	0	0	0	0	1	8822	40	2	2		2	LIPF	10	90438207	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4862	90438207	45096540	5668	10776										
LIPN	643418	hgsc.bcm.edu	37	chr10	90530683	90530683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatctgcaacaataagataCtctggttgatatgtagcgaa	8	6	2	2	rs114737713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:90530683C>T	ENST00000404459.1	+	6	754	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	252					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CAATAAGATACTCTGGTTGAT	0.323													C|||	76	0.0151757	0.0545	0.0043	5008	,	,		17038	0.0		0.001	False		,,,				2504	0.0				p.L252F		Atlas-SNP	.											.	LIPN	28	.	0			c.C754T						PASS	.	C	PHE/LEU	117,3509		2,113,1698	67	64	65		754	1.9	0.4	10	dbSNP_132	65	3,8125		0,3,4061	yes	missense	LIPN	NM_001102469.1	22	2,116,5759	TT,TC,CC		0.0369,3.2267,1.0209	benign	252/399	90530683	120,11634	1813	4064	5877	SO:0001583	missense	643418	exon6			AAGATACTCTGGT		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.754C>T	10.37:g.90530683C>T	ENSP00000383923:p.Leu252Phe	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	150	76	0.506667	NM_001102469	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	35	0.016025641025641024	32	0.06504065040650407	3	0.008287292817679558	0	0.0	0	0.0	C	6.188	0.402853	0.11696	0.032267	3.69E-4	ENSG00000204020	ENST00000404459	T	0.62232	0.04	4.86	1.85	0.25348	Alpha/beta hydrolase fold-1 (1);	0.760258	0.11368	N	0.571199	T	0.03783	0.0107	N	0.20845	0.615	0.09310	N	1	B	0.26975	0.165	B	0.25506	0.061	T	0.04635	-1.0937	10	0.10377	T	0.69	-8.2711	5.458	0.16602	0.0:0.4967:0.0:0.5032	.	252	Q5VXI9	LIPN_HUMAN	F	252	ENSP00000383923:L252F	ENSP00000383923:L252F	L	+	1	0	LIPN	90520663	0.003000	0.15002	0.412000	0.26496	0.894000	0.52154	-0.146000	0.10250	0.668000	0.31126	0.650000	0.86243	CTC	C|0.983;T|0.017	0.017	strong		0.323	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		T	90530683	C	T	90530683	3	4	22	1	0	0	0	0	1	0	0	0	8828	565	20	2	776	2	LIPN	10	90530683	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92476	90530683	45004064	5669	10777										
STAMBPL1	57559	hgsc.bcm.edu	37	chr10	90681048	90681048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctatttatagacacatccCactcaaactgcatttttatc	2	11	2	1	rs34083181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:90681048C>T	ENST00000371926.3	+	9	2008	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	STAMBPL1_ENST00000371922.1_Silent_p.P184P|STAMBPL1_ENST00000371924.1_Silent_p.P350P|STAMBPL1_ENST00000371927.3_Silent_p.P350P	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	350	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGACACATCCCACTCAAACTG	0.368													C|||	133	0.0265575	0.0272	0.0101	5008	,	,		19700	0.0387		0.0089	False		,,,				2504	0.0429				p.P350P		Atlas-SNP	.											.	STAMBPL1	63	.	0			c.C1050T						PASS	.	C		87,4319	75.2+/-113.4	0,87,2116	110	103	105		1050	-10	0.7	10	dbSNP_126	105	72,8528	42.6+/-100.3	0,72,4228	no	coding-synonymous	STAMBPL1	NM_020799.2		0,159,6344	TT,TC,CC		0.8372,1.9746,1.2225		350/437	90681048	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	57559	exon9			ACATCCCACTCAA	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.1050C>T	10.37:g.90681048C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_020799	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	CCDS7391.1																																																																																			C|0.982;T|0.018	0.018	strong		0.368	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		T	90681048	C	T	90681048	2	4	22	1	0	0	0	0	0	0	0	1	15250	581	21	2		2	STAMBPL1	10	90681048	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	150365	90681048	44853699	5670	10778										
KIF20B	9585	hgsc.bcm.edu	37	chr10	91532574	91532574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatttcatctcctattgatAtatcaggccaagtggtaagc	7	8	3	1	rs150021584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:91532574A>G	ENST00000371728.3	+	32	5436	c.5371A>G	c.(5371-5373)Ata>Gta	p.I1791V	KIF20B_ENST00000416354.1_Missense_Mutation_p.I1821V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1751V|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1791	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCCTATTGATATATCAGGCCA	0.323													A|||	3	0.000599042	0.0023	0.0	5008	,	,		15182	0.0		0.0	False		,,,				2504	0.0				p.I1751V		Atlas-SNP	.											.	KIF20B	191	.	0			c.A5251G						PASS	.	A	VAL/ILE	17,4389	22.3+/-47.3	0,17,2186	137	137	137		5251	4.8	1	10	dbSNP_134	137	0,8600		0,0,4300	yes	missense	KIF20B	NM_016195.2	29	0,17,6486	GG,GA,AA		0.0,0.3858,0.1307	benign	1751/1781	91532574	17,12989	2203	4300	6503	SO:0001583	missense	9585	exon32			ATTGATATATCAG	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5371A>G	10.37:g.91532574A>G	ENSP00000360793:p.Ile1791Val	Somatic	407	1	0.002457		WXS	Illumina HiSeq	Phase_I	389	182	0.467866	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.08	3.757963	0.69648	0.003858	0.0	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.54479	0.57;0.57;0.57	5.91	4.76	0.60689	.	0.125603	0.35235	N	0.003352	T	0.49983	0.1589	M	0.66939	2.045	0.80722	D	1	P;P	0.43287	0.702;0.802	B;B	0.40677	0.182;0.337	T	0.52961	-0.8505	10	0.66056	D	0.02	-7.6635	8.0076	0.30334	0.7238:0.1411:0.0:0.1351	.	1791;1751	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	1751;1821;1791	ENSP00000260753:I1751V;ENSP00000411545:I1821V;ENSP00000360793:I1791V	ENSP00000260753:I1751V	I	+	1	0	KIF20B	91522554	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	2.459000	0.45023	1.027000	0.39758	0.533000	0.62120	ATA	A|0.999;G|0.001	0.001	strong		0.323	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91532574	A	G	91532574	3	3	22	1	0	0	0	0	1	0	0	0	8287	449	16	2	5373	2	KIF20B	10	91532574	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	851526	91532574	44002173	5671	10779										
HECTD2	143279	hgsc.bcm.edu	37	chr10	93260363	93260363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggctatgcaaaaacggaCttaactataaagtgagctct	9	7	1	1	rs34553731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:93260363C>T	ENST00000298068.5	+	19	2149	c.2055C>T	c.(2053-2055)gaC>gaT	p.D685D	HECTD2_ENST00000446394.1_Silent_p.D689D|HECTD2_ENST00000536715.1_Silent_p.D274D|HECTD2_ENST00000371667.1_Silent_p.D335D	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	685	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CAAAAACGGACTTAACTATAA	0.418													C|||	61	0.0121805	0.0439	0.0029	5008	,	,		16343	0.0		0.001	False		,,,				2504	0.0				p.D685D	NSCLC(12;376 469 1699 39910 41417)	Atlas-SNP	.											.	HECTD2	60	.	0			c.C2055T						PASS	.	C		205,4201	127.0+/-164.0	5,195,2003	103	95	98		2055	3.9	0.6	10	dbSNP_126	98	6,8594	3.0+/-9.4	0,6,4294	no	coding-synonymous	HECTD2	NM_182765.3		5,201,6297	TT,TC,CC		0.0698,4.6527,1.6223		685/777	93260363	211,12795	2203	4300	6503	SO:0001819	synonymous_variant	143279	exon19			AACGGACTTAACT	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2055C>T	10.37:g.93260363C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	CCDS7414.1																																																																																			C|0.985;T|0.015	0.015	strong		0.418	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			T	93260363	C	T	93260363	2	4	22	1	0	0	0	0	0	0	0	1	7040	564	20	2		2	HECTD2	10	93260363	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1727789	93260363	42274384	5672	10780										
CPEB3	22849	hgsc.bcm.edu	37	chr10	93999850	93999850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcggcggctgctgaggAggctgatggaaactcaagcc	18	10	1	2	rs3824734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:93999850A>G	ENST00000265997.4	-	2	430	c.258T>C	c.(256-258)ccT>ccC	p.P86P	CPEB3_ENST00000412050.4_Silent_p.P86P	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	86	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCTGCTGAGGAGGCTGATGGA	0.721													G|||	3298	0.658546	0.9501	0.745	5008	,	,		9820	0.499		0.6173	False		,,,				2504	0.41				p.P86P		Atlas-SNP	.											.	CPEB3	43	.	0			c.T258C						PASS	.	G	,	3896,456		1755,386,35	13	15	14		258,258	-0.1	1	10	dbSNP_107	14	5207,3285		1622,1963,661	no	coding-synonymous,coding-synonymous	CPEB3	NM_001178137.1,NM_014912.4	,	3377,2349,696	GG,GA,AA		38.6835,10.4779,29.1264	,	86/685,86/699	93999850	9103,3741	2176	4246	6422	SO:0001819	synonymous_variant	22849	exon2			CTGAGGAGGCTGA	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.258T>C	10.37:g.93999850A>G		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	33	13	0.393939	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	CCDS31246.1																																																																																			A|0.307;G|0.693	0.693	strong		0.721	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		G	93999850	A	G	93999850	2	3	22	1	0	0	0	0	0	0	0	1	3802	291	11	3		3	CPEB3	10	93999850	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	739487	93999850	41534897	5673	10781										
CEP55	55165	hgsc.bcm.edu	37	chr10	95259979	95259979	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgactgataaagagagacaCagacttttggaggtaaatgg	12	5	0	5	rs3740370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95259979C>G	ENST00000371485.3	+	2	475	c.171C>G	c.(169-171)caC>caG	p.H57Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	57			H -> Q (in dbSNP:rs3740370). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16406728}.		establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAGAGAGACACAGACTTTTGG	0.383													C|||	1345	0.26857	0.3238	0.1715	5008	,	,		18932	0.2887		0.2207	False		,,,				2504	0.2914				p.H57Q		Atlas-SNP	.											.	CEP55	35	.	0			c.C171G						PASS	.	C	GLN/HIS,GLN/HIS	1263,3143	430.1+/-342.5	192,879,1132	117	128	124		171,171	-1.1	0.9	10	dbSNP_107	124	1955,6645	345.8+/-325.9	210,1535,2555	yes	missense,missense	CEP55	NM_001127182.1,NM_018131.4	24,24	402,2414,3687	GG,GC,CC		22.7326,28.6655,24.7424	benign,benign	57/465,57/465	95259979	3218,9788	2203	4300	6503	SO:0001583	missense	55165	exon2			GAGACACAGACTT	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.171C>G	10.37:g.95259979C>G	ENSP00000360540:p.His57Gln	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	15	0.384615	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	540	0.24725274725274726	160	0.3252032520325203	64	0.17679558011049723	161	0.28146853146853146	155	0.20448548812664907	C	4.002	-0.002321	0.07819	0.286655	0.227326	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.15952	2.38	5.39	-1.15	0.09709	.	0.772035	0.12648	N	0.450712	T	0.00012	0.0000	L	0.47716	1.5	0.50632	P	1.1099999999997223E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.46386	-0.9195	9	0.10377	T	0.69	-0.1339	2.9794	0.05948	0.2209:0.3378:0.3252:0.1162	rs3740370;rs11546296;rs52801109;rs3740370	57	Q53EZ4	CEP55_HUMAN	Q	57	ENSP00000360540:H57Q	ENSP00000351102:H57Q	H	+	3	2	CEP55	95249969	0.799000	0.28903	0.864000	0.33941	0.730000	0.41778	-0.508000	0.06344	-0.016000	0.14127	-1.121000	0.02013	CAC	C|0.756;G|0.244	0.244	strong		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		G	95259979	C	G	95259979	3	3	22	1	0	0	0	0	1	0	0	0	3255	477	17	4	173	4	CEP55	10	95259979	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1260129	95259979	40274768	5674	10782										
CEP55	55165	hgsc.bcm.edu	37	chr10	95262890	95262890	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaattcgagtccttgaggcTgagaaggagaagaatgctta	12	5	0	4	rs61865305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95262890T>A	ENST00000371485.3	+	3	508	c.204T>A	c.(202-204)gcT>gcA	p.A68A		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	68					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TCCTTGAGGCTGAGAAGGAGA	0.383													T|||	128	0.0255591	0.0008	0.0303	5008	,	,		21051	0.0		0.0895	False		,,,				2504	0.0164				p.A68A		Atlas-SNP	.											.	CEP55	35	.	0			c.T204A						PASS	.	T	,	79,4327	69.8+/-107.6	1,77,2125	78	74	75		204,204	2.9	1	10	dbSNP_129	75	672,7928	168.8+/-220.3	19,634,3647	no	coding-synonymous,coding-synonymous	CEP55	NM_001127182.1,NM_018131.4	,	20,711,5772	AA,AT,TT		7.814,1.793,5.7743	,	68/465,68/465	95262890	751,12255	2203	4300	6503	SO:0001819	synonymous_variant	55165	exon3			TGAGGCTGAGAAG	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.204T>A	10.37:g.95262890T>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	56	19	0.339286	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Silent	SNP	ENST00000371485.3	37	CCDS7428.1																																																																																			T|0.944;A|0.056	0.056	strong		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		A	95262890	T	A	95262890	2	1	22	1	0	0	0	0	0	0	0	1	3255	1567	55	5		5	CEP55	10	95262890	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2911	95262890	40271857	5675	10783										
CEP55	55165	hgsc.bcm.edu	37	chr10	95262980	95262980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccagatatagtactacCacattgcttgaacagctgga	9	9	0	2	rs62642530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95262980C>T	ENST00000371485.3	+	3	598	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	98					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATAGTACTACCACATTGCTTG	0.443													C|||	20	0.00399361	0.0129	0.0014	5008	,	,		19829	0.0		0.0	False		,,,				2504	0.002				p.T98T		Atlas-SNP	.											.	CEP55	35	.	0			c.C294T						PASS	.	C	,	38,4368	16.8+/-37.8	0,38,2165	147	131	136		294,294	-10.7	0	10	dbSNP_129	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CEP55	NM_001127182.1,NM_018131.4	,	0,38,6465	TT,TC,CC		0.0,0.8625,0.2922	,	98/465,98/465	95262980	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	55165	exon3			TACTACCACATTG	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.294C>T	10.37:g.95262980C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	82	43	0.52439	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Silent	SNP	ENST00000371485.3	37	CCDS7428.1																																																																																			C|0.996;T|0.004	0.004	strong		0.443	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		T	95262980	C	T	95262980	2	4	22	1	0	0	0	0	0	0	0	1	3255	581	21	2		2	CEP55	10	95262980	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90	95262980	40271767	5676	10784										
CEP55	55165	hgsc.bcm.edu	37	chr10	95278683	95278683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcaagaagaacaaacaaGggtagctctgttggaacaac	11	8	1	2	rs75139274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95278683G>A	ENST00000371485.3	+	7	1347	c.1043G>A	c.(1042-1044)aGg>aAg	p.R348K	CEP55_ENST00000496302.1_3'UTR	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	348					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAACAAACAAGGGTAGCTCTG	0.408													G|||	170	0.0339457	0.0008	0.0504	5008	,	,		21704	0.001		0.1034	False		,,,				2504	0.0297				p.R348K		Atlas-SNP	.											.	CEP55	35	.	0			c.G1043A						PASS	.	G	LYS/ARG,LYS/ARG	94,4312	75.2+/-113.4	1,92,2110	193	161	172		1043,1043	5	0.7	10	dbSNP_132	172	876,7724	183.9+/-232.0	39,798,3463	yes	missense,missense	CEP55	NM_001127182.1,NM_018131.4	26,26	40,890,5573	AA,AG,GG		10.186,2.1335,7.4581	benign,benign	348/465,348/465	95278683	970,12036	2203	4300	6503	SO:0001583	missense	55165	exon7			AAACAAGGGTAGC	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1043G>A	10.37:g.95278683G>A	ENSP00000360540:p.Arg348Lys	Somatic	256	1	0.00390625		WXS	Illumina HiSeq	Phase_I	251	110	0.438247	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	116|116	0.05311355311355311|0.05311355311355311	2|2	0.0040650406504065045|0.0040650406504065045	26|26	0.0718232044198895|0.0718232044198895	0|0	0.0|0.0	88|88	0.11609498680738786|0.11609498680738786	G|G	15.90|15.90	2.968022|2.968022	0.53507|0.53507	0.021335|0.021335	0.10186|0.10186	ENSG00000138180|ENSG00000138180	ENST00000445435|ENST00000371485;ENST00000358339	.|T	.|0.20738	.|2.05	5.88|5.88	4.97|4.97	0.65823|0.65823	.|.	.|0.130357	.|0.64402	.|D	.|0.000001	T|T	0.00241|0.00241	0.0007|0.0007	L|L	0.38531|0.38531	1.155|1.155	0.23572|0.23572	P|P	0.99738673|0.99738673	.|B	.|0.28512	.|0.214	.|B	.|0.24269	.|0.052	T|T	0.07271|0.07271	-1.0781|-1.0781	4|9	.|0.37606	.|T	.|0.19	-10.4322|-10.4322	11.4386|11.4386	0.50083|0.50083	0.1379:0.0:0.8621:0.0|0.1379:0.0:0.8621:0.0	.|.	.|348	.|Q53EZ4	.|CEP55_HUMAN	R|K	188|348	.|ENSP00000360540:R348K	.|ENSP00000351102:R348K	G|R	+|+	1|2	0|0	CEP55|CEP55	95268673|95268673	1.000000|1.000000	0.71417|0.71417	0.654000|0.654000	0.29608|0.29608	0.813000|0.813000	0.45954|0.45954	2.379000|2.379000	0.44318|0.44318	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GGG|AGG	G|0.931;A|0.069	0.069	strong		0.408	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		A	95278683	G	A	95278683	3	1	22	1	0	0	0	0	1	0	0	0	3255	1000	35	2	1065	2	CEP55	10	95278683	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15703	95278683	40256064	5677	10785										
FRA10AC1	118924	hgsc.bcm.edu	37	chr10	95441272	95441272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggcctcttctgcagaaGataatctggattttttatgt	10	6	3	2	rs11187583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:95441272G>A	ENST00000359204.4	-	11	949	c.752C>T	c.(751-753)tCt>tTt	p.S251F	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.S251F|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.S251F|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.S251F	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	251	Lys-rich.		S -> F (in dbSNP:rs11187583).			nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTCTGCAGAAGATAATCTGGA	0.303													G|||	409	0.0816693	0.093	0.0965	5008	,	,		15209	0.0337		0.1193	False		,,,				2504	0.0665				p.S251F		Atlas-SNP	.											FRA10AC1_ENST00000371426,colon,carcinoma,-1,2	FRA10AC1	68	2	0			c.C752T						PASS	.	G	PHE/SER	385,4019	194.0+/-219.0	18,349,1835	177	156	163		752	5.2	0.9	10	dbSNP_120	163	974,7624	211.0+/-251.7	65,844,3390	yes	missense	FRA10AC1	NM_145246.4	155	83,1193,5225	AA,AG,GG		11.3282,8.7421,10.4522	possibly-damaging	251/316	95441272	1359,11643	2202	4299	6501	SO:0001583	missense	118924	exon11			GCAGAAGATAATC	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.752C>T	10.37:g.95441272G>A	ENSP00000360488:p.Ser251Phe	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	147	73	0.496599	NM_145246	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	CCDS7430.1	188	0.08608058608058608	42	0.08536585365853659	46	0.1270718232044199	14	0.024475524475524476	86	0.11345646437994723	G	15.10	2.734050	0.48939	0.087421	0.113282	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25579	1.81;1.8;1.79;1.8	5.17	5.17	0.71159	.	0.293421	0.37857	N	0.001919	T	0.00328	0.0010	L	0.59436	1.845	0.38708	P	0.04685600000000001	P	0.48407	0.91	B	0.43575	0.424	T	0.03139	-1.1068	9	0.66056	D	0.02	-3.4566	15.7456	0.77939	0.0:0.0:1.0:0.0	rs11187583;rs52826468;rs11187583	251	Q70Z53	F10C1_HUMAN	F	251	ENSP00000360488:S251F;ENSP00000438405:S251F;ENSP00000360484:S251F;ENSP00000377660:S251F	ENSP00000360488:S251F	S	-	2	0	FRA10AC1	95431262	1.000000	0.71417	0.890000	0.34922	0.831000	0.47069	4.748000	0.62148	2.572000	0.86782	0.655000	0.94253	TCT	G|0.902;A|0.098	0.098	strong		0.303	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		A	95441272	G	A	95441272	3	1	22	1	0	0	0	0	1	0	0	0	6041	942	33	2	211	2	FRA10AC1	10	95441272	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	162589	95441272	40093475	5678	10786										
PLCE1	51196	hgsc.bcm.edu	37	chr10	96012108	96012108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggcccaactttggctcaCgctgtggagttgtttggtgg	15	8	1	0	rs61732522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:96012108C>T	ENST00000371380.3	+	8	3367	c.3132C>T	c.(3130-3132)caC>caT	p.H1044H	PLCE1_ENST00000371375.1_Silent_p.H736H|PLCE1_ENST00000260766.3_Silent_p.H1044H|PLCE1_ENST00000371385.3_Silent_p.H736H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1044					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTTGGCTCACGCTGTGGAGT	0.483													C|||	151	0.0301518	0.0908	0.0173	5008	,	,		19190	0.0		0.0109	False		,,,				2504	0.0082				p.H1044H		Atlas-SNP	.											.	PLCE1	543	.	0			c.C3132T						PASS	.	C	,	257,3883		6,245,1819	118	120	119		2208,3132	-12	0.4	10	dbSNP_129	119	29,8393		0,29,4182	no	coding-synonymous,coding-synonymous	PLCE1	NM_001165979.1,NM_016341.3	,	6,274,6001	TT,TC,CC		0.3443,6.2077,2.2767	,	736/1995,1044/2303	96012108	286,12276	2070	4211	6281	SO:0001819	synonymous_variant	51196	exon9			GGCTCACGCTGTG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3132C>T	10.37:g.96012108C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	202	75	0.371287	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			C|0.983;T|0.017	0.017	strong		0.483	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	96012108	C	T	96012108	2	4	22	1	0	0	0	0	0	0	0	1	12034	535	19	1		1	PLCE1	10	96012108	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	570836	96012108	39522639	5679	10787										
PLCE1	51196	hgsc.bcm.edu	37	chr10	96025697	96025697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctcaaaggagaatcctcGgtagaactctacagccaggt	10	11	2	2	rs41291134	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:96025697G>A	ENST00000371380.3	+	15	4498	c.4263G>A	c.(4261-4263)tcG>tcA	p.S1421S	PLCE1_ENST00000371385.3_Silent_p.S1113S|PLCE1_ENST00000371375.1_Silent_p.S1113S|PLCE1_ENST00000260766.3_Silent_p.S1421S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1421	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAATCCTCGGTAGAACTCT	0.433													G|||	327	0.0652955	0.1392	0.036	5008	,	,		16901	0.0327		0.0368	False		,,,				2504	0.0491				p.S1421S		Atlas-SNP	.											PLCE1_ENST00000371375,NS,carcinoma,+1,3	PLCE1	543	3	0			c.G4263A						PASS	.	G	,	426,3338		17,392,1473	89	88	88		3339,4263	-2.6	1	10	dbSNP_127	88	182,8042		3,176,3933	no	coding-synonymous,coding-synonymous	PLCE1	NM_001165979.1,NM_016341.3	,	20,568,5406	AA,AG,GG		2.213,11.3177,5.0717	,	1113/1995,1421/2303	96025697	608,11380	1882	4112	5994	SO:0001819	synonymous_variant	51196	exon16			ATCCTCGGTAGAA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4263G>A	10.37:g.96025697G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	159	78	0.490566	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			G|0.957;A|0.043	0.043	strong		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		A	96025697	G	A	96025697	2	1	22	1	0	0	0	0	0	0	0	1	12034	1103	39	1		1	PLCE1	10	96025697	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13589	96025697	39509050	5680	10788										
PLCE1	51196	hgsc.bcm.edu	37	chr10	96058298	96058298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtattctcagaaactgaCccagcacaccgcctgtcagc	8	15	2	2	rs3765524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:96058298C>T	ENST00000371380.3	+	23	5565	c.5330C>T	c.(5329-5331)aCc>aTc	p.T1777I	PLCE1_ENST00000371375.1_Missense_Mutation_p.T1469I|PLCE1_ENST00000260766.3_Missense_Mutation_p.T1777I|PLCE1_ENST00000371385.3_Missense_Mutation_p.T1469I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1777	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.		T -> I (in dbSNP:rs3765524). {ECO:0000269|PubMed:11022048, ECO:0000269|Ref.8}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGAAACTGACCCAGCACACC	0.522													T|||	1542	0.307907	0.4561	0.2104	5008	,	,		16656	0.2381		0.3091	False		,,,				2504	0.2474				p.T1777I		Atlas-SNP	.											.	PLCE1	543	.	0			c.C5330T						PASS	.	T	ILE/THR,ILE/THR	1593,2455		327,939,758	82	83	83	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4406,5330	5.6	1	10	dbSNP_107	83	2378,5946		316,1746,2100	yes	missense,missense	PLCE1	NM_001165979.1,NM_016341.3	89,89	643,2685,2858	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	28.568,39.3528,32.0967	benign,benign	1469/1995,1777/2303	96058298	3971,8401	2024	4162	6186	SO:0001583	missense	51196	exon24			AACTGACCCAGCA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5330C>T	10.37:g.96058298C>T	ENSP00000360431:p.Thr1777Ile	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	144	75	0.520833	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	614	0.28113553113553114	207	0.42073170731707316	79	0.21823204419889503	110	0.19230769230769232	218	0.287598944591029	T	6.575	0.474472	0.12521	0.393528	0.28568	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00446	-1.495	0.49483	P	2.0500000000001073E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40308	-0.9570	9	0.02654	T	1	.	11.3769	0.49733	0.0:0.0715:0.0:0.9285	rs3765524;rs52790405;rs56794598;rs3765524	1761;1469;1777	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	1777;1777;1469;1469	ENSP00000260766:T1777I;ENSP00000360431:T1777I;ENSP00000360438:T1469I;ENSP00000360426:T1469I	ENSP00000260766:T1777I	T	+	2	0	PLCE1	96048288	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.148000	0.64857	0.968000	0.38212	-0.254000	0.11334	ACC	C|0.684;T|0.316	0.316	strong		0.522	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	96058298	C	T	96058298	3	4	22	1	0	0	0	0	1	0	0	0	12034	507	18	2	5706	2	PLCE1	10	96058298	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32601	96058298	39476449	5681	10789										
NOC3L	64318	hgsc.bcm.edu	37	chr10	96098373	96098373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccactcttacccgcagagCatgcagttcccacagagcag	10	15	1	2	rs17517578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:96098373C>T	ENST00000371361.3	-	18	2183	c.2083G>A	c.(2083-2085)Gct>Act	p.A695T	NOC3L_ENST00000371350.1_Missense_Mutation_p.A695T|NOC3L_ENST00000543788.1_Missense_Mutation_p.A433T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	695			A -> T (in dbSNP:rs17517578).		fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACCCGCAGAGCATGCAGTTCC	0.438													C|||	553	0.110423	0.1059	0.111	5008	,	,		16705	0.003		0.1839	False		,,,				2504	0.1513				p.A695T		Atlas-SNP	.											.	NOC3L	67	.	0			c.G2083A						PASS	.	C	THR/ALA	493,3913	230.7+/-244.8	24,445,1734	100	98	99		2083	3.8	0.2	10	dbSNP_123	99	1376,7224	267.6+/-287.4	103,1170,3027	yes	missense	NOC3L	NM_022451.9	58	127,1615,4761	TT,TC,CC		16.0,11.1893,14.3703	benign	695/801	96098373	1869,11137	2203	4300	6503	SO:0001583	missense	64318	exon18			GCAGAGCATGCAG	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2083G>A	10.37:g.96098373C>T	ENSP00000360412:p.Ala695Thr	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	233	105	0.450644	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	222	0.10164835164835165	45	0.09146341463414634	41	0.1132596685082873	1	0.0017482517482517483	135	0.17810026385224276	C	0.836	-0.743469	0.03088	0.111893	0.16	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.21734	1.99;1.99;1.99	5.63	3.77	0.43336	CCAAT-binding factor (1);	0.744226	0.13218	N	0.404571	T	0.00039	0.0001	N	0.20574	0.59	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.34477	-0.9827	9	0.25751	T	0.34	-1.7679	3.1464	0.06473	0.123:0.5555:0.1192:0.2023	rs17517578;rs52814170;rs17517578	695	Q8WTT2	NOC3L_HUMAN	T	433;695;695	ENSP00000437838:A433T;ENSP00000360412:A695T;ENSP00000360401:A695T	ENSP00000360401:A695T	A	-	1	0	NOC3L	96088363	0.004000	0.15560	0.176000	0.23000	0.002000	0.02628	0.359000	0.20233	0.844000	0.35094	-0.136000	0.14681	GCT	C|0.868;T|0.132	0.132	strong		0.438	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		T	96098373	C	T	96098373	3	4	22	1	0	0	0	0	1	0	0	0	10514	710	25	2	335	2	NOC3L	10	96098373	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40075	96098373	39436374	5682	10790										
CYP2C8	1558	hgsc.bcm.edu	37	chr10	96818106	96818106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttacctgctccattttgaTcaggaagcaatcgataaagt	7	9	2	1	rs11572103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:96818106T>A	ENST00000371270.3	-	5	899	c.805A>T	c.(805-807)Atc>Ttc	p.I269F	CYP2C8_ENST00000539050.1_Missense_Mutation_p.I183F|CYP2C8_ENST00000535898.1_Missense_Mutation_p.I167F	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	269			I -> F (in allele CYP2C8*2; only found in African-Americans; dbSNP:rs11572103). {ECO:0000269|PubMed:11668219, ECO:0000269|PubMed:12429347, ECO:0000269|PubMed:15469410, ECO:0000269|Ref.5}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TCCATTTTGATCAGGAAGCAA	0.358													T|||	274	0.0547125	0.1891	0.0115	5008	,	,		17668	0.0		0.004	False		,,,				2504	0.0123				p.I269F		Atlas-SNP	.											.	CYP2C8	73	.	0			c.A805T	GRCh37	CM016067	CYP2C8	M	rs11572103	PASS	.	T	PHE/ILE,PHE/ILE,PHE/ILE,PHE/ILE	690,3716	289.5+/-280.5	68,554,1581	156	139	145		805,595,499,595	4.2	0.8	10	dbSNP_120	145	30,8570	21.0+/-64.5	0,30,4270	yes	missense,missense,missense,missense	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	21,21,21,21	68,584,5851	AA,AT,TT		0.3488,15.6605,5.5359	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	269/491,199/421,167/389,199/421	96818106	720,12286	2203	4300	6503	SO:0001583	missense	1558	exon5			TTTTGATCAGGAA	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.805A>T	10.37:g.96818106T>A	ENSP00000360317:p.Ile269Phe	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	136	73	0.536765	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	CCDS7438.1	85	0.03891941391941392	82	0.16666666666666666	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	T	13.62	2.290753	0.40494	0.156605	0.003488	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.68624	-0.34;-0.34;-0.34	4.17	4.17	0.49024	.	0.225081	0.35235	U	0.003341	T	0.00524	0.0017	M	0.66378	2.025	0.23903	P	0.99651506	P;D;D;D	0.59767	0.898;0.961;0.986;0.961	P;P;P;P	0.57101	0.622;0.675;0.795;0.813	T	0.32134	-0.9918	9	0.72032	D	0.01	.	11.4277	0.50020	0.0:0.0:0.0:1.0	rs11572103;rs52833642;rs58027822;rs11572103	183;167;237;269	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	F	269;236;167;183	ENSP00000360317:I269F;ENSP00000445062:I167F;ENSP00000442343:I183F	ENSP00000360317:I269F	I	-	1	0	CYP2C8	96808096	0.980000	0.34600	0.793000	0.32043	0.156000	0.22039	1.316000	0.33620	1.642000	0.50584	0.254000	0.18369	ATC	T|0.950;A|0.050	0.050	strong		0.358	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		A	96818106	T	A	96818106	3	1	22	1	0	0	0	0	1	0	0	0	4167	1435	50	5	687	5	CYP2C8	10	96818106	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	719733	96818106	38716641	5683	10791										
SORBS1	10580	hgsc.bcm.edu	37	chr10	97154762	97154762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaagtttatggtaccttcGgaagtttgctggatttcagg	11	6	2	0	rs17110703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:97154762G>A	ENST00000361941.3	-	12	1319	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000354106.3_Silent_p.S422S|SORBS1_ENST00000347291.4_Silent_p.S299S|SORBS1_ENST00000371247.2_Silent_p.S431S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Silent_p.S431S|SORBS1_ENST00000371246.2_Silent_p.S431S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Silent_p.S422S|SORBS1_ENST00000607232.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGTACCTTCGGAAGTTTGCT	0.393													G|||	188	0.0375399	0.1369	0.0086	5008	,	,		19554	0.0		0.001	False		,,,				2504	0.0				p.S431S		Atlas-SNP	.											.	SORBS1	185	.	0			c.C1293T						PASS	.	G	,,,,,,	505,3901	233.6+/-246.7	26,453,1724	237	281	266		1293,1293,,,,,	4.9	1	10	dbSNP_123	266	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	26,462,6015	AA,AG,GG		0.1047,11.4616,3.952	,,,,,,	431/1293,431/1152,,,,,	97154762	514,12492	2203	4300	6503	SO:0001819	synonymous_variant	10580	exon12			ACCTTCGGAAGTT	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1293C>T	10.37:g.97154762G>A		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	214	108	0.504673	NM_001034955		Silent	SNP	ENST00000361941.3	37	CCDS31255.1																																																																																			G|0.952;A|0.048	0.048	strong		0.393	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			A	97154762	G	A	97154762	2	1	22	1	0	0	0	0	0	0	0	1	14927	1103	39	1		1	SORBS1	10	97154762	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	336656	97154762	38379985	5684	10792										
SORBS1	10580	hgsc.bcm.edu	37	chr10	97174352	97174352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgagaaggatggtggcgTctggctaatgggggcaaagg	20	4	1	1	rs2281939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:97174352T>C	ENST00000361941.3	-	7	735	c.709A>G	c.(709-711)Acg>Gcg	p.T237A	SORBS1_ENST00000371245.3_Missense_Mutation_p.T168A|SORBS1_ENST00000371227.4_Missense_Mutation_p.T237A|SORBS1_ENST00000371246.2_Missense_Mutation_p.T237A|SORBS1_ENST00000354106.3_Missense_Mutation_p.T228A|SORBS1_ENST00000371247.2_Missense_Mutation_p.T237A|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.T237A|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.T228A|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.T205A|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.T168A	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GATGGTGGCGTCTGGCTAATG	0.637													T|||	802	0.160144	0.3434	0.062	5008	,	,		17833	0.1171		0.0586	False		,,,				2504	0.1309				p.T237A		Atlas-SNP	.											SORBS1_ENST00000371247,NS,carcinoma,+2,2	SORBS1	185	2	0			c.A709G	GRCh37	CM012804	SORBS1	M	rs2281939	PASS	.	T	ALA/THR,ALA/THR,ALA/THR,,,ALA/THR,	1344,3062	420.2+/-338.9	210,924,1069	31	32	31		709,709,502,,,613,	1.8	1	10	dbSNP_100	31	444,8154	130.0+/-188.0	13,418,3868	yes	missense,missense,missense,intron,intron,missense,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	58,58,58,,,58,	223,1342,4937	CC,CT,TT		5.164,30.5039,13.7496	possibly-damaging,possibly-damaging,possibly-damaging,,,possibly-damaging,	237/1293,237/1152,168/906,,,205/817,	97174352	1788,11216	2203	4299	6502	SO:0001583	missense	10580	exon7			GTGGCGTCTGGCT	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.709A>G	10.37:g.97174352T>C	ENSP00000355136:p.Thr237Ala	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	160	72	0.45	NM_001034955		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	300	0.13736263736263737	168	0.34146341463414637	21	0.058011049723756904	68	0.11888111888111888	43	0.05672823218997362	T	6.644	0.487361	0.12641	0.305039	0.05164	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.39056	1.59;1.57;1.1;1.57;1.1;1.1;1.59;1.1;1.1;1.1	5.54	1.8	0.24995	.	0.341205	0.21497	N	0.073592	T	0.00012	0.0000	L	0.51422	1.61	0.09310	P	0.999999999036363	P;P;P;B;P;B;P	0.43788	0.817;0.739;0.787;0.038;0.571;0.329;0.514	B;B;B;B;B;B;B	0.39840	0.164;0.225;0.311;0.054;0.121;0.077;0.17	T	0.38112	-0.9676	9	0.34782	T	0.22	-1.483	6.5738	0.22553	0.0:0.138:0.1308:0.7313	rs2281939;rs17849165;rs61182067;rs2281939	435;205;237;205;168;237;237	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	A	168;205;237;237;237;228;168;237;237;228	ENSP00000360291:T168A;ENSP00000360295:T205A;ENSP00000360293:T237A;ENSP00000360271:T237A;ENSP00000360292:T237A;ENSP00000377521:T228A;ENSP00000343998:T168A;ENSP00000355136:T237A;ENSP00000277982:T237A;ENSP00000277984:T228A	ENSP00000277982:T237A	T	-	1	0	SORBS1	97164342	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	1.022000	0.30052	0.053000	0.16036	0.454000	0.30748	ACG	T|0.860;C|0.140	0.140	strong		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			C	97174352	T	C	97174352	3	2	22	1	0	0	0	0	1	0	0	0	14927	1667	58	2	3466	2	SORBS1	10	97174352	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19590	97174352	38360395	5685	10793										
ALDH18A1	5832	hgsc.bcm.edu	37	chr10	97371146	97371146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcggagtgacttcacttcGgaggggctgaaggtcagata	15	7	2	3	rs1804934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:97371146G>A	ENST00000371224.2	-	16	2114	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	ALDH18A1_ENST00000371221.3_Silent_p.S657S	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	659	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		ACTTCACTTCGGAGGGGCTGA	0.468													G|||	125	0.0249601	0.0325	0.0274	5008	,	,		22175	0.0139		0.0318	False		,,,				2504	0.0174				p.S659S		Atlas-SNP	.											.	ALDH18A1	63	.	0			c.C1977T						PASS	.	G	,	180,4226	115.9+/-153.8	3,174,2026	216	217	217		1971,1977	-11.2	0.2	10	dbSNP_89	217	215,8385	90.9+/-153.0	4,207,4089	no	coding-synonymous,coding-synonymous	ALDH18A1	NM_001017423.1,NM_002860.3	,	7,381,6115	AA,AG,GG		2.5,4.0853,3.0371	,	657/794,659/796	97371146	395,12611	2203	4300	6503	SO:0001819	synonymous_variant	5832	exon16			CACTTCGGAGGGG	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1977C>T	10.37:g.97371146G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	216	98	0.453704	NM_002860	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																			G|0.971;A|0.029	0.029	strong		0.468	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		A	97371146	G	A	97371146	2	1	22	1	0	0	0	0	0	0	0	1	489	1103	39	1		1	ALDH18A1	10	97371146	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	196794	97371146	38163601	5686	10794										
CC2D2B	387707	hgsc.bcm.edu	37	chr10	97779510	97779510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatggctgtattttttgacTattcaaaggaaagtttctgg	9	5	2	1	rs9943393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:97779510T>C	ENST00000344386.3	+	8	873	c.709T>C	c.(709-711)Tat>Cat	p.Y237H	ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.Y237H|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	237			Y -> H (in dbSNP:rs9943393).							large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATTTTTTGACTATTCAAAGGA	0.338													T|||	67	0.0133786	0.0477	0.0043	5008	,	,		17685	0.0		0.001	False		,,,				2504	0.0				p.Y237H		Atlas-SNP	.											.	CC2D2B	46	.	0			c.T709C						PASS	.	T	HIS/TYR,HIS/TYR	124,3472		7,110,1681	105	107	106		709,709	3.7	1	10	dbSNP_119	106	3,8137		0,3,4067	yes	missense,missense	CC2D2B	NM_001001732.3,NM_001159747.1	83,83	7,113,5748	CC,CT,TT		0.0369,3.4483,1.0821	possibly-damaging,possibly-damaging	237/323,237/402	97779510	127,11609	1798	4070	5868	SO:0001583	missense	387707	exon8			TTTGACTATTCAA	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.709T>C	10.37:g.97779510T>C	ENSP00000343747:p.Tyr237His	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	288	127	0.440972	NM_001001732	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	T	14.01	2.407470	0.42715	0.034483	3.69E-4	ENSG00000188649	ENST00000451649;ENST00000410012;ENST00000344386	T;T	0.70399	-0.48;-0.48	4.93	3.73	0.42828	.	.	.	.	.	T	0.22166	0.0534	L	0.44542	1.39	0.26525	N	0.974358	P;B	0.44195	0.828;0.392	B;B	0.42593	0.392;0.141	T	0.31194	-0.9952	9	0.39692	T	0.17	.	7.3082	0.26459	0.2619:0.0:0.0:0.7381	rs9943393;rs9943393	237;237	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	H	237	ENSP00000386988:Y237H;ENSP00000343747:Y237H	ENSP00000343747:Y237H	Y	+	1	0	CC2D2B	97769500	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.130000	0.42064	2.072000	0.62099	0.454000	0.30748	TAT	T|0.988;C|0.012	0.012	strong		0.338	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		C	97779510	T	C	97779510	3	2	22	1	0	0	0	0	1	0	0	0	2729	1522	53	3	735	3	CC2D2B	10	97779510	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	408364	97779510	37755237	5687	10795										
TLL2	7093	hgsc.bcm.edu	37	chr10	98240156	98240156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttggtccagtctctggctTtgtcaatgtgaaacagcttc	10	10	2	1	rs61738802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98240156T>A	ENST00000357947.3	-	2	461	c.236A>T	c.(235-237)aAa>aTa	p.K79I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	79					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTCTCTGGCTTTGTCAATGTG	0.502													T|||	19	0.00379393	0.0144	0.0	5008	,	,		22069	0.0		0.0	False		,,,				2504	0.0				p.K79I		Atlas-SNP	.											.	TLL2	122	.	0			c.A236T						PASS	.	T	ILE/LYS	66,4340	61.7+/-98.7	1,64,2138	285	234	251		236	3.4	0.4	10	dbSNP_129	251	1,8599		0,1,4299	yes	missense	TLL2	NM_012465.3	102	1,65,6437	AA,AT,TT		0.0116,1.498,0.5151	benign	79/1016	98240156	67,12939	2203	4300	6503	SO:0001583	missense	7093	exon2			CTGGCTTTGTCAA	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.236A>T	10.37:g.98240156T>A	ENSP00000350630:p.Lys79Ile	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	256	118	0.460938	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	16.21	3.058034	0.55325	0.01498	1.16E-4	ENSG00000095587	ENST00000357947	T	0.16457	2.34	5.74	3.37	0.38596	.	0.384078	0.18126	U	0.150896	T	0.07863	0.0197	L	0.38175	1.15	0.24846	N	0.992434	B	0.34103	0.437	B	0.29716	0.106	T	0.22695	-1.0209	10	0.72032	D	0.01	.	4.0306	0.09708	0.0:0.1654:0.1858:0.6489	rs61738802	79	Q9Y6L7	TLL2_HUMAN	I	79	ENSP00000350630:K79I	ENSP00000350630:K79I	K	-	2	0	TLL2	98230146	0.920000	0.31207	0.364000	0.25888	0.337000	0.28794	1.236000	0.32683	0.959000	0.37980	0.459000	0.35465	AAA	T|0.986;A|0.014	0.014	strong		0.502	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			A	98240156	T	A	98240156	3	1	22	1	0	0	0	0	1	0	0	0	15943	1841	64	5	2891	5	TLL2	10	98240156	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	460646	98240156	37294591	5688	10796										
TM9SF3	56889	hgsc.bcm.edu	37	chr10	98282083	98282083	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgttcccatgtaaccaatCgctcctgcaaagataaaata	5	11	0	1	rs35359279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98282083C>T	ENST00000371142.4	-	15	1923	c.1707G>A	c.(1705-1707)gcG>gcA	p.A569A		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	569						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGTAACCAATCGCTCCTGCAA	0.338													C|||	47	0.00938498	0.0356	0.0	5008	,	,		18641	0.0		0.0	False		,,,				2504	0.0				p.A569A		Atlas-SNP	.											.	TM9SF3	45	.	0			c.G1707A						PASS	.	C		106,4300	82.9+/-121.4	3,100,2100	98	101	100		1707	-2.1	1	10	dbSNP_126	100	3,8595		0,3,4296	no	coding-synonymous	TM9SF3	NM_020123.3		3,103,6396	TT,TC,CC		0.0349,2.4058,0.8382		569/590	98282083	109,12895	2203	4299	6502	SO:0001819	synonymous_variant	56889	exon15			ACCAATCGCTCCT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1707G>A	10.37:g.98282083C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	95	35	0.368421	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																			C|0.990;T|0.010	0.010	strong		0.338	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		T	98282083	C	T	98282083	2	4	22	1	0	0	0	0	0	0	0	1	15976	871	31	1		1	TM9SF3	10	98282083	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41927	98282083	37252664	5689	10797										
TM9SF3	56889	hgsc.bcm.edu	37	chr10	98287792	98287792	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaataggtacttaccaccGgtaatcttctgcatttagta	6	9	2	0	rs12779720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98287792G>T	ENST00000371142.4	-	12	1753	c.1537C>A	c.(1537-1539)Cgg>Agg	p.R513R		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	513						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACTTACCACCGGTAATCTTCT	0.368													T|||	1164	0.232428	0.2958	0.3573	5008	,	,		16783	0.1548		0.2018	False		,,,				2504	0.1697				p.R513R		Atlas-SNP	.											.	TM9SF3	45	.	0			c.C1537A						PASS	.	T		1204,3202	707.1+/-407.5	172,860,1171	103	99	100		1537	4.8	0.9	10	dbSNP_121	100	1475,7123	749.0+/-407.4	124,1227,2948	no	coding-synonymous	TM9SF3	NM_020123.3		296,2087,4119	TT,TG,GG		17.1552,27.3264,20.6014		513/590	98287792	2679,10325	2203	4299	6502	SO:0001819	synonymous_variant	56889	exon12			ACCACCGGTAATC	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1537C>A	10.37:g.98287792G>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	151	79	0.523179	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																			G|0.783;T|0.217	0.217	strong		0.368	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		T	98287792	G	T	98287792	2	4	22	1	0	0	0	0	0	0	0	1	15976	1115	39	4		4	TM9SF3	10	98287792	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5709	98287792	37246955	5690	10798										
PIK3AP1	118788	hgsc.bcm.edu	37	chr10	98469734	98469734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggatgtcgcatcctctgGgcacccctggacaagaatga	12	11	1	3	rs73334383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98469734G>A	ENST00000339364.5	-	2	139	c.20C>T	c.(19-21)cCc>cTc	p.P7L		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	7					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCATCCTCTGGGCACCCCTGG	0.597													G|||	61	0.0121805	0.0416	0.0086	5008	,	,		17446	0.0		0.0	False		,,,				2504	0.0				p.P7L		Atlas-SNP	.											.	PIK3AP1	111	.	0			c.C20T						PASS	.	G	LEU/PRO	128,4168		2,124,2022	52	43	46		20	-9.5	0	10	dbSNP_130	46	2,8428		0,2,4213	yes	missense	PIK3AP1	NM_152309.2	98	2,126,6235	AA,AG,GG		0.0237,2.9795,1.0215	benign	7/806	98469734	130,12596	2148	4215	6363	SO:0001583	missense	118788	exon2			CCTCTGGGCACCC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.20C>T	10.37:g.98469734G>A	ENSP00000339826:p.Pro7Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	40	0.43956	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	26	0.011904761904761904	21	0.042682926829268296	5	0.013812154696132596	0	0.0	0	0.0	G	2.065	-0.414443	0.04766	0.029795	2.37E-4	ENSG00000155629	ENST00000339364	T	0.09255	3.0	4.73	-9.46	0.00597	.	2.649450	0.01208	N	0.007761	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	10	0.22109	T	0.4	4.4446	5.2642	0.15589	0.1057:0.174:0.5472:0.173	.	7	Q6ZUJ8	BCAP_HUMAN	L	7	ENSP00000339826:P7L	ENSP00000339826:P7L	P	-	2	0	PIK3AP1	98459724	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.446000	0.06837	-2.205000	0.00742	-0.345000	0.07892	CCC	G|0.987;A|0.013	0.013	strong		0.597	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		A	98469734	G	A	98469734	3	1	22	1	0	0	0	0	1	0	0	0	11908	1232	43	2	2461	2	PIK3AP1	10	98469734	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	181942	98469734	37065013	5691	10799										
C10orf12	26148	hgsc.bcm.edu	37	chr10	98742021	98742021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaaagattaagccgaacCtgagcagctcccctaggtca	8	14	1	2	rs7098255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98742021C>T	ENST00000286067.2	+	1	981	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	292								p.L292L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TAAGCCGAACCTGAGCAGCTC	0.562													C|||	701	0.139976	0.0492	0.1282	5008	,	,		19757	0.2808		0.0229	False		,,,				2504	0.2464				p.L292L		Atlas-SNP	.											C10orf12,NS,carcinoma,0,1	C10orf12	94	1	1	Substitution - coding silent(1)	stomach(1)	c.C874T						PASS	.	C		204,4202	128.2+/-165.1	5,194,2004	66	70	69		874	5.1	0	10	dbSNP_116	69	197,8403	85.6+/-148.0	2,193,4105	no	coding-synonymous	C10orf12	NM_015652.2		7,387,6109	TT,TC,CC		2.2907,4.63,3.0832		292/1248	98742021	401,12605	2203	4300	6503	SO:0001819	synonymous_variant	26148	exon1			CCGAACCTGAGCA	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.874C>T	10.37:g.98742021C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_015652	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	CCDS7452.1																																																																																			C|0.931;T|0.069	0.069	strong		0.562	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		T	98742021	C	T	98742021	2	4	22	1	0	0	0	0	0	0	0	1	1589	680	24	2		2	C10orf12	10	98742021	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	272287	98742021	36792726	5692	10800										
C10orf12	26148	hgsc.bcm.edu	37	chr10	98742088	98742088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcctctccctgctcaccTtcctgaagaggacctgccag	10	16	2	2	rs7082522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98742088T>C	ENST00000286067.2	+	1	1048	c.941T>C	c.(940-942)cTt>cCt	p.L314P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	314			L -> P (in dbSNP:rs7082522).							NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCTGCTCACCTTCCTGAAGAG	0.572													T|||	42	0.00838658	0.0234	0.0101	5008	,	,		19340	0.0		0.004	False		,,,				2504	0.0				p.L314P		Atlas-SNP	.											.	C10orf12	94	.	0			c.T941C						PASS	.	T	PRO/LEU	82,4324	69.8+/-107.6	0,82,2121	66	67	67		941	2.5	0.1	10	dbSNP_116	67	19,8581	12.6+/-44.7	0,19,4281	yes	missense	C10orf12	NM_015652.2	98	0,101,6402	CC,CT,TT		0.2209,1.8611,0.7766	benign	314/1248	98742088	101,12905	2203	4300	6503	SO:0001583	missense	26148	exon1			CTCACCTTCCTGA	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.941T>C	10.37:g.98742088T>C	ENSP00000286067:p.Leu314Pro	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	9	0.004120879120879121	5	0.01016260162601626	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	T	6.674	0.492926	0.12702	0.018611	0.002209	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08720	3.06	6.05	2.49	0.30216	.	0.311072	0.22801	N	0.055461	T	0.02156	0.0067	N	0.14661	0.345	0.20638	N	0.999875	B;B	0.17038	0.006;0.02	B;B	0.16722	0.009;0.016	T	0.40850	-0.9541	10	0.33141	T	0.24	0.0135	8.0912	0.30801	0.0:0.3649:0.0:0.6351	rs7082522;rs7082522	148;314	A0PJI9;Q8N655	.;CJ012_HUMAN	P	314;148	ENSP00000286067:L314P	ENSP00000286067:L314P	L	+	2	0	C10orf12	98732078	0.000000	0.05858	0.055000	0.19348	0.931000	0.56810	-0.378000	0.07446	0.189000	0.20188	0.533000	0.62120	CTT	T|0.994;C|0.006	0.006	strong		0.572	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		C	98742088	T	C	98742088	3	2	22	1	0	0	0	0	1	0	0	0	1589	1609	56	3	943	3	C10orf12	10	98742088	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67	98742088	36792659	5693	10801										
C10orf12	26148	hgsc.bcm.edu	37	chr10	98742605	98742605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatacaagcattgactcactCgaagagaatttggacaagaa	9	7	1	3	rs3814163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:98742605C>T	ENST00000286067.2	+	1	1565	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	486								p.L486L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTGACTCACTCGAAGAGAATT	0.423													C|||	1034	0.20647	0.2821	0.1441	5008	,	,		20933	0.2808		0.0229	False		,,,				2504	0.2607				p.L486L		Atlas-SNP	.											C10orf12,NS,carcinoma,0,1	C10orf12	94	1	1	Substitution - coding silent(1)	stomach(1)	c.C1458T						scavenged	.	C		1057,3349	359.9+/-315.0	136,785,1282	75	81	79		1458	-6.4	0.3	10	dbSNP_107	79	207,8393	82.6+/-145.2	2,203,4095	no	coding-synonymous	C10orf12	NM_015652.2		138,988,5377	TT,TC,CC		2.407,23.99,9.7186		486/1248	98742605	1264,11742	2203	4300	6503	SO:0001819	synonymous_variant	26148	exon1			CTCACTCGAAGAG	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1458C>T	10.37:g.98742605C>T		Somatic	46	1	0.0217391		WXS	Illumina HiSeq	Phase_I	56	34	0.607143	NM_015652	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	CCDS7452.1																																																																																			C|0.862;T|0.138	0.138	strong		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		T	98742605	C	T	98742605	2	4	22	1	0	0	0	0	0	0	0	1	1589	871	31	1		1	C10orf12	10	98742605	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	517	98742605	36792142	5694	10802										
ANKRD2	26287	hgsc.bcm.edu	37	chr10	99337572	99337572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagaaactccgaggagacGcacgccagaagctgcccatg	11	14	0	3	rs7094973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99337572G>A	ENST00000307518.5	+	2	451	c.184G>A	c.(184-186)Gca>Aca	p.A62T	ANKRD2_ENST00000298808.5_Missense_Mutation_p.A62T|ANKRD2_ENST00000370655.1_Missense_Mutation_p.A35T|ANKRD2_ENST00000455090.1_Missense_Mutation_p.A35T			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	62	May mediate interaction with PML, p53/TP53 and YBX1.		A -> T (in dbSNP:rs7094973). {ECO:0000269|PubMed:11444853, ECO:0000269|PubMed:11453652, ECO:0000269|PubMed:14583192, ECO:0000269|PubMed:14702039}.		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)	p.A62T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCGAGGAGACGCACGCCAGAA	0.617													G|||	2274	0.454073	0.1921	0.6585	5008	,	,		15754	0.4018		0.6869	False		,,,				2504	0.4775				p.A62T		Atlas-SNP	.											ANKRD2,NS,carcinoma,0,1	ANKRD2	27	1	1	Substitution - Missense(1)	stomach(1)	c.G184A						PASS	.	G	THR/ALA,THR/ALA	1255,3145		204,847,1149	48	36	40		184,184	-7.9	0	10	dbSNP_116	40	6028,2552		2122,1784,384	yes	missense,missense	ANKRD2	NM_001129981.1,NM_020349.2	58,58	2326,2631,1533	AA,AG,GG		29.7436,28.5227,43.8906	benign,benign	62/328,62/361	99337572	7283,5697	2200	4290	6490	SO:0001583	missense	26287	exon2			GGAGACGCACGCC	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.184G>A	10.37:g.99337572G>A	ENSP00000306163:p.Ala62Thr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	48	18	0.375	NM_001129981	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	1079	0.49404761904761907	85	0.17276422764227642	232	0.6408839779005525	233	0.40734265734265734	529	0.6978891820580475	G	6.465	0.453901	0.12283	0.285227	0.702564	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.50277	0.98;0.77;0.93;0.75	4.65	-7.86	0.01187	.	1.506750	0.03523	N	0.221279	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33394	-0.9870	9	0.19147	T	0.46	0.7688	2.8043	0.05423	0.4552:0.1831:0.2615:0.1001	rs7094973;rs56731722;rs7094973	62;62	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	T	62;62;35;35	ENSP00000306163:A62T;ENSP00000298808:A62T;ENSP00000359689:A35T;ENSP00000403114:A35T	ENSP00000298808:A62T	A	+	1	0	ANKRD2	99327562	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.752000	0.00791	-1.293000	0.02362	0.561000	0.74099	GCA	G|0.516;A|0.484	0.484	strong		0.617	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	99337572	G	A	99337572	3	1	22	1	0	0	0	0	1	0	0	0	647	1087	38	1	190	1	ANKRD2	10	99337572	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	594967	99337572	36197175	5695	10803										
C10orf62	414157	hgsc.bcm.edu	37	chr10	99350017	99350017	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagccccatccactgatgaGgccacgtgggccgctgtggc	13	14	0	2	rs7093840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99350017G>C	ENST00000370640.3	+	1	568	c.363G>C	c.(361-363)gaG>gaC	p.E121D	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	121			E -> D (in dbSNP:rs7093840). {ECO:0000269|PubMed:15489334}.							endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCACTGATGAGGCCACGTGGG	0.612													G|||	1327	0.264976	0.3124	0.2896	5008	,	,		17502	0.1369		0.3082	False		,,,				2504	0.271				p.E121D		Atlas-SNP	.											.	C10orf62	14	.	0			c.G363C						PASS	.	G	ASP/GLU,,	1472,2934	464.7+/-354.0	252,968,983	42	45	44		363,,	-0.3	0.4	10	dbSNP_116	44	2699,5901	425.6+/-355.0	414,1871,2015	yes	missense,intron,intron	HOGA1,C10orf62	NM_001009997.2,NM_001134670.1,NM_138413.3	45,,	666,2839,2998	CC,CG,GG		31.3837,33.409,32.0698	benign,,	121/224,,	99350017	4171,8835	2203	4300	6503	SO:0001583	missense	414157	exon1			TGATGAGGCCACG		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.363G>C	10.37:g.99350017G>C	ENSP00000359674:p.Glu121Asp	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_001009997	Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	CCDS31261.1	555	0.2541208791208791	168	0.34146341463414637	91	0.2513812154696133	71	0.12412587412587413	225	0.29683377308707126	G	7.559	0.664348	0.14710	0.33409	0.313837	ENSG00000203942	ENST00000370640	T	0.51325	0.71	5.27	-0.32	0.12721	.	0.532357	0.15253	N	0.272205	T	0.00012	0.0000	N	0.12182	0.205	0.43214	P	0.0049120000000000275	B	0.20052	0.041	B	0.20184	0.028	T	0.43065	-0.9414	9	0.20519	T	0.43	-6.3121	4.6706	0.12687	0.1697:0.0:0.3888:0.4415	rs7093840;rs17853720;rs7093840	121	Q5T681	CJ062_HUMAN	D	121	ENSP00000359674:E121D	ENSP00000359674:E121D	E	+	3	2	C10orf62	99340007	0.000000	0.05858	0.396000	0.26296	0.743000	0.42351	-0.377000	0.07456	-0.074000	0.12820	0.643000	0.83706	GAG	G|0.706;C|0.294	0.294	strong		0.612	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		C	99350017	G	C	99350017	3	2	22	1	0	0	0	0	1	0	0	0	1611	991	35	4	365	4	C10orf62	10	99350017	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12445	99350017	36184730	5696	10804										
C10orf62	414157	hgsc.bcm.edu	37	chr10	99350128	99350128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccagcactcaggtcacctAgagtccaaggacatcaacca	7	14	3	1	rs7093643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99350128A>G	ENST00000370640.3	+	1	679	c.474A>G	c.(472-474)ctA>ctG	p.L158L	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	158										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CAGGTCACCTAGAGTCCAAGG	0.587													G|||	1392	0.277955	0.3548	0.2968	5008	,	,		20226	0.1369		0.3091	False		,,,				2504	0.274				p.L158L		Atlas-SNP	.											C10orf62,colon,carcinoma,0,1	C10orf62	14	1	0			c.A474G						scavenged	.	G	,,	1611,2795	663.3+/-401.2	295,1021,887	75	74	75		474,,	2	0.9	10	dbSNP_116	75	2716,5884	681.7+/-403.7	422,1872,2006	no	coding-synonymous,intron,intron	HOGA1,C10orf62	NM_001009997.2,NM_001134670.1,NM_138413.3	,,	717,2893,2893	GG,GA,AA		31.5814,36.5638,33.2693	,,	158/224,,	99350128	4327,8679	2203	4300	6503	SO:0001819	synonymous_variant	414157	exon1			TCACCTAGAGTCC		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.474A>G	10.37:g.99350128A>G		Somatic	46	1	0.0217391		WXS	Illumina HiSeq	Phase_I	51	29	0.568627	NM_001009997	Q49A70|Q8N3Y6	Silent	SNP	ENST00000370640.3	37	CCDS31261.1																																																																																			A|0.704;G|0.296	0.296	strong		0.587	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		G	99350128	A	G	99350128	2	3	22	1	0	0	0	0	0	0	0	1	1611	407	15	3		3	C10orf62	10	99350128	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111	99350128	36184619	5697	10805										
DHDPSL	112817	hgsc.bcm.edu	37	chr10	99371344	99371344	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatggaggcccctgccgcgcCcccttgcaggagctgagccc	13	17	0	1	rs12261752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99371344C>A	ENST00000370646.4	+	7	1273	c.912C>A	c.(910-912)gcC>gcA	p.A304A	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Silent_p.A141A	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	304					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CCTGCCGCGCCCCCTTGCAGG	0.627													C|||	1590	0.317492	0.3177	0.2363	5008	,	,		17499	0.3492		0.2545	False		,,,				2504	0.407				p.A304A		Atlas-SNP	.											HOGA1,colon,carcinoma,+2,1	HOGA1	25	1	0			c.C912A						PASS	.	C	,	1348,3058	446.9+/-348.2	195,958,1050	41	44	43		423,912	4.1	0.9	10	dbSNP_120	43	2573,6027	414.9+/-351.6	392,1789,2119	no	coding-synonymous,coding-synonymous	HOGA1	NM_001134670.1,NM_138413.3	,	587,2747,3169	AA,AC,CC		29.9186,30.5946,30.1476	,	141/165,304/328	99371344	3921,9085	2203	4300	6503	SO:0001819	synonymous_variant	112817	exon7			CCGCGCCCCCTTG	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.912C>A	10.37:g.99371344C>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	50	0.462963	NM_138413	A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Silent	SNP	ENST00000370646.4	37	CCDS7467.1																																																																																			C|0.700;A|0.300	0.300	strong		0.627	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		A	99371344	C	A	99371344	2	1	22	1	0	0	0	0	0	0	0	1	4480	610	22	4		4	DHDPSL	10	99371344	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21216	99371344	36163403	5698	10806										
MORN4	118812	hgsc.bcm.edu	37	chr10	99376092	99376092	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcagaacacttctcacgTcgcagcagcttgttgttctc	9	12	2	1	rs3814555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99376092T>C	ENST00000307450.6	-	5	532	c.369A>G	c.(367-369)cgA>cgG	p.R123R	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000335628.3_Silent_p.R181R	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	123								p.R123R(2)		large_intestine(1)|lung(1)|stomach(2)	4						ACTTCTCACGTCGCAGCAGCT	0.532													C|||	1497	0.298922	0.4864	0.2507	5008	,	,		19837	0.2817		0.1978	False		,,,				2504	0.2014				p.R123R		Atlas-SNP	.											MORN4_ENST00000307450,NS,carcinoma,0,4	MORN4	24	4	2	Substitution - coding silent(2)	stomach(2)	c.A369G						PASS	.	C	,	1921,2485	625.6+/-394.6	423,1075,705	61	58	59		369,369	-1.8	0.5	10	dbSNP_107	59	1886,6714	728.0+/-406.7	195,1496,2609	no	coding-synonymous,coding-synonymous	MORN4	NM_001098831.1,NM_178832.3	,	618,2571,3314	CC,CT,TT		21.9302,43.5996,29.2711	,	123/147,123/147	99376092	3807,9199	2203	4300	6503	SO:0001819	synonymous_variant	118812	exon5			CTCACGTCGCAGC	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.369A>G	10.37:g.99376092T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	92	36	0.391304	NM_001098831	Q86Y54	Silent	SNP	ENST00000307450.6	37	CCDS7468.1																																																																																			T|0.703;C|0.297	0.297	strong		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		C	99376092	T	C	99376092	2	2	22	1	0	0	0	0	0	0	0	1	9710	1654	58	2		2	MORN4	10	99376092	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4748	99376092	36158655	5699	10807										
MORN4	118812	hgsc.bcm.edu	37	chr10	99376152	99376152	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggattccatgagaaccatcAgggaaagtcagcaggccttt	12	9	2	1	rs3814556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99376152A>G	ENST00000307450.6	-	5	472	c.309T>C	c.(307-309)ccT>ccC	p.P103P	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_Nonstop_Mutation_p.*67R|MORN4_ENST00000335628.3_Silent_p.P161P	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	103								p.P103P(2)		large_intestine(1)|lung(1)|stomach(2)	4						GAGAACCATCAGGGAAAGTCA	0.493													G|||	1675	0.334465	0.6142	0.2608	5008	,	,		21271	0.2837		0.1978	False		,,,				2504	0.2014				p.P103P		Atlas-SNP	.											MORN4_ENST00000307450,NS,carcinoma,0,2	MORN4	24	2	2	Substitution - coding silent(2)	stomach(2)	c.T309C						PASS	.	G	,	2385,2021	560.3+/-380.4	650,1085,468	45	44	44		309,309	-10.1	0.1	10	dbSNP_107	44	1889,6711	724.4+/-406.5	195,1499,2606	no	coding-synonymous,coding-synonymous	MORN4	NM_001098831.1,NM_178832.3	,	845,2584,3074	GG,GA,AA		21.9651,45.8693,32.8618	,	103/147,103/147	99376152	4274,8732	2203	4300	6503	SO:0001819	synonymous_variant	118812	exon5			ACCATCAGGGAAA	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.309T>C	10.37:g.99376152A>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_001098831	Q86Y54	Silent	SNP	ENST00000307450.6	37	CCDS7468.1	697	0.3191391941391941	298	0.6056910569105691	95	0.26243093922651933	161	0.28146853146853146	143	0.18865435356200527	G	1.553	-0.538700	0.04053	0.541307	0.219651	ENSG00000171160	ENST00000478953	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999911	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3015	3.4743	0.07578	0.3815:0.164:0.3555:0.0991	rs3814556;rs17850630;rs60361165;rs3814556	.	.	.	R	67	.	.	X	-	1	0	MORN4	99366142	0.000000	0.05858	0.146000	0.22360	0.884000	0.51177	-2.921000	0.00693	-3.319000	0.00188	-1.163000	0.01768	TGA	A|0.673;G|0.327	0.327	strong		0.493	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		G	99376152	A	G	99376152	2	3	22	1	0	0	0	0	0	0	0	1	9710	175	7	3		3	MORN4	10	99376152	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60	99376152	36158595	5700	10808										
PI4K2A	55361	hgsc.bcm.edu	37	chr10	99410790	99410790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagaagctgtgctgtccTtgctgctttggccgtgactg	13	11	0	2	rs7915721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99410790T>C	ENST00000370631.3	+	2	585	c.528T>C	c.(526-528)ccT>ccC	p.P176P	PI4K2A_ENST00000555577.1_Silent_p.P146P|PI4K2A_ENST00000370649.3_Silent_p.P146P	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	176	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.P176P(2)|p.P146P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGTGCTGTCCTTGCTGCTTTG	0.517													C|||	1715	0.342452	0.6233	0.2666	5008	,	,		20300	0.3006		0.2028	False		,,,				2504	0.2035				p.P176P		Atlas-SNP	.											PI4K2A_ENST00000555577,NS,carcinoma,0,2	PI4K2A	57	2	3	Substitution - coding silent(3)	prostate(3)	c.T528C						scavenged	.	C		2425,1981	556.8+/-379.6	676,1073,454	92	79	83		528	3.1	1	10	dbSNP_116	83	1911,6689	726.6+/-406.6	192,1527,2581	no	coding-synonymous	PI4K2A	NM_018425.2		868,2600,3035	CC,CT,TT		22.2209,44.9614,33.3385		176/480	99410790	4336,8670	2203	4300	6503	SO:0001819	synonymous_variant	55361	exon2			CTGTCCTTGCTGC	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.528T>C	10.37:g.99410790T>C		Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	130	65	0.5	NM_018425	D3DR59|Q9NSG8	Silent	SNP	ENST00000370631.3	37	CCDS7469.1																																																																																			T|0.663;C|0.337	0.337	strong		0.517	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		C	99410790	T	C	99410790	2	2	22	1	0	0	0	0	0	0	0	1	11871	1596	56	3		3	PI4K2A	10	99410790	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34638	99410790	36123957	5701	10809										
AVPI1	60370	hgsc.bcm.edu	37	chr10	99439541	99439541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgctgcgttgaaacaggGcttggatctgcagcagctcg	13	13	1	1	rs2275047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99439541G>C	ENST00000370626.3	-	2	689	c.122C>G	c.(121-123)gCc>gGc	p.A41G		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	41			A -> G (in dbSNP:rs2275047). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874, ECO:0000269|Ref.3}.		activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TTGAAACAGGGCTTGGATCTG	0.662													C|||	2545	0.508187	0.6982	0.438	5008	,	,		17525	0.4742		0.3579	False		,,,				2504	0.4908				p.A41G		Atlas-SNP	.											AVPI1,NS,carcinoma,0,2	AVPI1	16	2	0			c.C122G						PASS	.	C	GLY/ALA	2846,1560		944,958,301	38	29	32		122	5.1	1	10	dbSNP_100	32	3408,5192		678,2052,1570	yes	missense	AVPI1	NM_021732.2	60	1622,3010,1871	CC,CG,GG		39.6279,35.4063,48.0855	benign	41/148	99439541	6254,6752	2203	4300	6503	SO:0001583	missense	60370	exon2			AACAGGGCTTGGA	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.122C>G	10.37:g.99439541G>C	ENSP00000359660:p.Ala41Gly	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	155	78	0.503226	NM_021732	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	37	CCDS7470.1	1018	0.4661172161172161	339	0.6890243902439024	149	0.4116022099447514	261	0.4562937062937063	269	0.3548812664907652	C	4.439	0.081327	0.08533	0.645937	0.396279	ENSG00000119986	ENST00000370626	T	0.28895	1.59	5.09	5.09	0.68999	.	.	.	.	.	T	0.00012	0.0000	N	0.00926	-1.1	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	8	0.32370	T	0.25	0.0051	13.3971	0.60861	0.0:0.6982:0.3018:0.0	rs2275047;rs17856022;rs52810646;rs57044806;rs2275047	41	Q5T686	AVPI1_HUMAN	G	41	ENSP00000359660:A41G	ENSP00000359660:A41G	A	-	2	0	AVPI1	99429531	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.539000	0.36104	1.383000	0.46405	-0.216000	0.12614	GCC	G|0.524;C|0.476	0.476	strong		0.662	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732		C	99439541	G	C	99439541	3	2	22	1	0	0	0	0	1	0	0	0	1230	1203	42	4	329	4	AVPI1	10	99439541	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28751	99439541	36095206	5702	10810										
CRTAC1	55118	hgsc.bcm.edu	37	chr10	99667840	99667840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagttaggcccattctcAttgtcgcagaagatatccga	10	9	1	2	rs35333633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99667840A>G	ENST00000370597.3	-	6	1135	c.780T>C	c.(778-780)aaT>aaC	p.N260N	CRTAC1_ENST00000370591.2_Silent_p.N260N|CRTAC1_ENST00000298819.4_Silent_p.N260N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	260						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCCCATTCTCATTGTCGCAGA	0.607													G|||	285	0.0569089	0.2005	0.0231	5008	,	,		20899	0.0		0.004	False		,,,				2504	0.0				p.N260N		Atlas-SNP	.											.	CRTAC1	86	.	0			c.T780C						PASS	.	G	,	725,3681	757.9+/-412.8	68,589,1546	89	68	75		780,780	-2.7	1	10	dbSNP_126	75	7,8593	819.0+/-406.8	0,7,4293	no	coding-synonymous,coding-synonymous	CRTAC1	NM_001206528.2,NM_018058.6	,	68,596,5839	GG,GA,AA		0.0814,16.4548,5.6282	,	260/646,260/662	99667840	732,12274	2203	4300	6503	SO:0001819	synonymous_variant	55118	exon6			ATTCTCATTGTCG	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.780T>C	10.37:g.99667840A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	153	75	0.490196	NM_001206528	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1																																																																																			A|0.946;G|0.054	0.054	strong		0.607	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		G	99667840	A	G	99667840	2	3	22	1	0	0	0	0	0	0	0	1	3896	214	8	2		2	CRTAC1	10	99667840	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	228299	99667840	35866907	5703	10811										
CRTAC1	55118	hgsc.bcm.edu	37	chr10	99696031	99696031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccctgccggtcccgcagcGcgtagtagggtgagctgcgc	15	15	0	1	rs80014629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:99696031G>A	ENST00000370597.3	-	3	672	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A106V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCCCGCAGCGCGTAGTAGGG	0.617													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18551	0.0		0.0	False		,,,				2504	0.0				p.A106V		Atlas-SNP	.											CRTAC1,NS,carcinoma,0,2	CRTAC1	86	2	1	Substitution - Missense(1)	endometrium(1)	c.C317T						PASS	.	G	VAL/ALA,VAL/ALA	18,4388	24.3+/-50.5	0,18,2185	66	54	58		317,317	4.8	1	10	dbSNP_131	58	0,8600		0,0,4300	yes	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	64,64	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	benign,benign	106/646,106/662	99696031	18,12988	2203	4300	6503	SO:0001583	missense	55118	exon3			CGCAGCGCGTAGT	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.317C>T	10.37:g.99696031G>A	ENSP00000359629:p.Ala106Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	112	52	0.464286	NM_001206528	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.45	2.537920	0.45176	0.004085	0.0	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.75050	1.37;-0.9;1.27;-0.05;-0.06	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.57536	1.79	0.80722	D	1	P;P	0.50710	0.68;0.938	B;B	0.43386	0.089;0.418	T	0.68239	-0.5461	10	0.15066	T	0.55	-16.5833	17.7665	0.88480	0.0:0.0:1.0:0.0	.	106;106	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	2;106;106;98;106	ENSP00000408445:A2V;ENSP00000359629:A106V;ENSP00000298819:A106V;ENSP00000310810:A98V;ENSP00000359623:A106V	ENSP00000298819:A106V	A	-	2	0	CRTAC1	99686021	1.000000	0.71417	0.958000	0.39756	0.350000	0.29205	7.675000	0.84002	2.204000	0.70986	0.313000	0.20887	GCG	G|0.999;A|0.001	0.001	strong		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99696031	G	A	99696031	3	1	22	1	0	0	0	0	1	0	0	0	3896	1087	38	1	1720	1	CRTAC1	10	99696031	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28191	99696031	35838716	5704	10812										
PYROXD2	84795	hgsc.bcm.edu	37	chr10	100144782	100144782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcaggggcacggggcgggCgaagtagagctggtccaggg	21	8	0	1	rs2296441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:100144782C>T	ENST00000370575.4	-	15	1645	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	533			A -> T (in dbSNP:rs2296441). {ECO:0000269|PubMed:14702039}.				oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ACGGGGCGGGCGAAGTAGAGC	0.607													C|||	2026	0.404553	0.3691	0.4121	5008	,	,		18541	0.4425		0.2634	False		,,,				2504	0.5532				p.A533T		Atlas-SNP	.											.	PYROXD2	43	.	0			c.G1597A						PASS	.	C	THR/ALA	1642,2764	502.2+/-365.2	309,1024,870	82	78	79		1597	5.2	1	10	dbSNP_100	79	2610,5990	422.3+/-354.0	421,1768,2111	yes	missense	PYROXD2	NM_032709.2	58	730,2792,2981	TT,TC,CC		30.3488,37.2674,32.6926	benign	533/582	100144782	4252,8754	2203	4300	6503	SO:0001583	missense	84795	exon15			GGCGGGCGAAGTA	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1597G>A	10.37:g.100144782C>T	ENSP00000359607:p.Ala533Thr	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_032709	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	788	0.3608058608058608	179	0.3638211382113821	144	0.39779005524861877	266	0.46503496503496505	199	0.262532981530343	C	10.91	1.483060	0.26598	0.372674	0.303488	ENSG00000119943	ENST00000370575	T	0.48522	0.81	5.16	5.16	0.70880	.	0.102848	0.64402	D	0.000003	T	0.00012	0.0000	L	0.28054	0.825	0.19945	P	0.9999441106	B	0.25048	0.117	B	0.14023	0.01	T	0.43734	-0.9373	9	0.15066	T	0.55	-20.8698	8.1427	0.31093	0.1586:0.7598:0.0:0.0816	rs2296441;rs57309996;rs2296441	533	Q8N2H3	PYRD2_HUMAN	T	533	ENSP00000359607:A533T	ENSP00000359607:A533T	A	-	1	0	PYROXD2	100134772	0.477000	0.25909	0.991000	0.47740	0.968000	0.65278	0.920000	0.28705	2.394000	0.81467	0.557000	0.71058	GCC	C|0.662;T|0.338	0.338	strong		0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		T	100144782	C	T	100144782	3	4	22	1	0	0	0	0	1	0	0	0	12867	768	27	1	156	1	PYROXD2	10	100144782	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448751	100144782	35389965	5705	10813										
PYROXD2	84795	hgsc.bcm.edu	37	chr10	100147060	100147060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatagacctcgatgcaatcAaacactggggtgccaaaaac	9	11	1	1	rs4345897	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:100147060A>G	ENST00000370575.4	-	14	1500	c.1452T>C	c.(1450-1452)ttT>ttC	p.F484F	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	484							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGATGCAATCAAACACTGGGG	0.468													G|||	2610	0.521166	0.6422	0.4755	5008	,	,		18833	0.5615		0.334	False		,,,				2504	0.5409				p.F484F		Atlas-SNP	.											.	PYROXD2	43	.	0			c.T1452C						PASS	.	G		2574,1832	535.0+/-374.1	747,1080,376	83	80	81		1452	0.4	1	10	dbSNP_111	81	3045,5555	662.2+/-401.9	565,1915,1820	no	coding-synonymous	PYROXD2	NM_032709.2		1312,2995,2196	GG,GA,AA		35.407,41.5797,43.2031		484/582	100147060	5619,7387	2203	4300	6503	SO:0001819	synonymous_variant	84795	exon14			GCAATCAAACACT	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1452T>C	10.37:g.100147060A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	84	32	0.380952	NM_032709	D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	CCDS7474.1																																																																																			A|0.541;G|0.459	0.459	strong		0.468	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		G	100147060	A	G	100147060	2	3	22	1	0	0	0	0	0	0	0	1	12867	127	5	2		2	PYROXD2	10	100147060	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2278	100147060	35387687	5706	10814										
PYROXD2	84795	hgsc.bcm.edu	37	chr10	100148176	100148176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagccagcgtatagggcAtgtactgagtgaagagggag	15	8	0	3	rs2147896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:100148176A>G	ENST00000370575.4	-	13	1430	c.1382T>C	c.(1381-1383)aTg>aCg	p.M461T	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	461			M -> T (in dbSNP:rs2147896). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.				oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGTATAGGGCATGTACTGAGT	0.607													G|||	3003	0.599641	0.8752	0.5418	5008	,	,		19828	0.5833		0.3479	False		,,,				2504	0.544				p.M461T		Atlas-SNP	.											.	PYROXD2	43	.	0			c.T1382C						PASS	.	G	THR/MET	3380,1026	379.2+/-323.2	1312,756,135	70	58	62		1382	4.9	1	10	dbSNP_96	62	3079,5521	659.9+/-401.7	579,1921,1800	yes	missense	PYROXD2	NM_032709.2	81	1891,2677,1935	GG,GA,AA		35.8023,23.2864,49.6617	benign	461/582	100148176	6459,6547	2203	4300	6503	SO:0001583	missense	84795	exon13			TAGGGCATGTACT	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1382T>C	10.37:g.100148176A>G	ENSP00000359607:p.Met461Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_032709	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	1215	0.5563186813186813	430	0.8739837398373984	183	0.505524861878453	335	0.5856643356643356	267	0.35224274406332456	G	0.834	-0.744101	0.03088	0.767136	0.358023	ENSG00000119943	ENST00000370575	T	0.20463	2.07	4.92	4.92	0.64577	.	0.047135	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00069	-2.28	0.47341	P	6.070000000000242E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.37957	-0.9683	9	0.02654	T	1	-40.2811	13.1208	0.59325	0.0789:0.0:0.9211:0.0	rs2147896;rs17856169;rs52809965;rs59725796;rs2147896	461	Q8N2H3	PYRD2_HUMAN	T	461	ENSP00000359607:M461T	ENSP00000359607:M461T	M	-	2	0	PYROXD2	100138166	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	6.425000	0.73370	1.095000	0.41419	-0.642000	0.03964	ATG	T|0.003;G|0.526	0.526	strong		0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		G	100148176	A	G	100148176	3	3	22	1	0	0	0	0	1	0	0	0	12867	217	8	2	379	2	PYROXD2	10	100148176	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1116	100148176	35386571	5707	10815										
PYROXD2	84795	hgsc.bcm.edu	37	chr10	100167396	100167396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgagcaggtaggacgcGcgggagaacttaaaccctga	15	9	0	3	rs12763326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:100167396G>A	ENST00000370575.4	-	4	306	c.258C>T	c.(256-258)cgC>cgT	p.R86R	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	86							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTAGGACGCGCGGGAGAACT	0.622													g|||	2092	0.417732	0.5053	0.3775	5008	,	,		16640	0.4395		0.2376	False		,,,				2504	0.4908				p.R86R		Atlas-SNP	.											.	PYROXD2	43	.	0			c.C258T						PASS	.	A		2086,2320	569.8+/-382.7	481,1124,598	44	51	49		258	-5.8	0.9	10	dbSNP_121	49	2287,6313	384.7+/-341.2	316,1655,2329	no	coding-synonymous	PYROXD2	NM_032709.2		797,2779,2927	AA,AG,GG		26.593,47.3445,33.6229		86/582	100167396	4373,8633	2203	4300	6503	SO:0001819	synonymous_variant	84795	exon4			GGACGCGCGGGAG	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.258C>T	10.37:g.100167396G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_032709	D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	CCDS7474.1																																																																																			G|0.643;A|0.356	0.356	strong		0.622	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		A	100167396	G	A	100167396	2	1	22	1	0	0	0	0	0	0	0	1	12867	1074	38	1		1	PYROXD2	10	100167396	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19220	100167396	35367351	5708	10816										
HPSE2	60495	hgsc.bcm.edu	37	chr10	100219374	100219374	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattgacattcttgaccacaTaaaagcccatggtgactgga	8	10	1	3	rs10883100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:100219374T>A	ENST00000370552.3	-	12	1795	c.1736A>T	c.(1735-1737)tAt>tTt	p.Y579F	HPSE2_ENST00000370549.1_Missense_Mutation_p.Y521F|HPSE2_ENST00000370546.1_3'UTR|HPSE2_ENST00000404542.1_Missense_Mutation_p.Y467F	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	579			Y -> F (in dbSNP:rs10883100). {ECO:0000269|PubMed:11027606, ECO:0000269|Ref.2}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTTGACCACATAAAAGCCCAT	0.597													T|||	2657	0.530551	0.6233	0.5346	5008	,	,		17494	0.5119		0.5099	False		,,,				2504	0.4427				p.Y579F		Atlas-SNP	.											HPSE2,NS,carcinoma,0,1	HPSE2	203	1	0			c.A1736T						PASS	.	T	PHE/TYR,PHE/TYR,,PHE/TYR	2738,1668	654.7+/-399.8	851,1036,316	71	70	70		1562,1400,,1736	5.3	1	10	dbSNP_120	70	4185,4415	567.2+/-388.8	1027,2131,1142	yes	missense,missense,utr-3,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	22,22,,22	1878,3167,1458	AA,AT,TT		48.6628,37.8575,46.7707	benign,benign,,benign	521/535,467/481,,579/593	100219374	6923,6083	2203	4300	6503	SO:0001583	missense	60495	exon12			ACCACATAAAAGC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1736A>T	10.37:g.100219374T>A	ENSP00000359583:p.Tyr579Phe	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	103	48	0.466019	NM_021828	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	1186	0.543040293040293	309	0.6280487804878049	195	0.5386740331491713	300	0.5244755244755245	382	0.503957783641161	T	13.65	2.301038	0.40694	0.621425	0.486628	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000404542	T;T;T	0.41758	0.99;1.0;1.0	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	N	0.17674	0.51	0.09310	P	0.9999999693858	D;D;B	0.67145	0.996;0.996;0.001	D;D;B	0.73380	0.98;0.98;0.003	T	0.04103	-1.0977	9	0.02654	T	1	-6.674	15.2788	0.73764	0.0:0.0:0.0:1.0	rs10883100;rs52819603;rs60701436;rs10883100	467;521;579	Q8WWQ2-4;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	F	579;521;467	ENSP00000359583:Y579F;ENSP00000359580:Y521F;ENSP00000384384:Y467F	ENSP00000359580:Y521F	Y	-	2	0	HPSE2	100209364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.564000	0.82326	2.013000	0.59113	0.528000	0.53228	TAT	A|0.539;N|0.000	0.539	strong		0.597	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100219374	T	A	100219374	3	1	22	1	0	0	0	0	1	0	0	0	7345	1406	49	5	46	5	HPSE2	10	100219374	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51978	100219374	35315373	5709	10817										
CNNM1	26507	hgsc.bcm.edu	37	chr10	101120671	101120671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtttaagctttcggacacGgagatgcgggtgaagatctc	13	7	1	3	rs61735150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101120671G>A	ENST00000356713.4	+	3	2086	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	CNNM1_ENST00000446890.1_Silent_p.T528T|CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000370534.4_Silent_p.T234T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTTCGGACACGGAGATGCGGG	0.542													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		20089	0.0		0.0	False		,,,				2504	0.0				p.T599T		Atlas-SNP	.											CNNM1_ENST00000356713,NS,carcinoma,0,2	CNNM1	101	2	0			c.G1797A						PASS	.	G		86,4320	72.5+/-110.5	0,86,2117	117	111	113		1797	-11.5	0	10	dbSNP_129	113	0,8600		0,0,4300	no	coding-synonymous	CNNM1	NM_020348.2		0,86,6417	AA,AG,GG		0.0,1.9519,0.6612		599/952	101120671	86,12920	2203	4300	6503	SO:0001819	synonymous_variant	26507	exon3			GGACACGGAGATG	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1797G>A	10.37:g.101120671G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2																																																																																			G|0.992;A|0.008	0.008	strong		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		A	101120671	G	A	101120671	2	1	22	1	0	0	0	0	0	0	0	1	3612	1103	39	1		1	CNNM1	10	101120671	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	901297	101120671	34414076	5710	10818										
ABCC2	1244	hgsc.bcm.edu	37	chr10	101604107	101604107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgactgataagaggcctcCgccagattggcccagcaaag	13	11	0	4	rs17216317	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101604107C>T	ENST00000370449.4	+	28	3985	c.3872C>T	c.(3871-3873)cCg>cTg	p.P1291L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1291			P -> L (altered transporter activity; dbSNP:rs17216317). {ECO:0000269|PubMed:22290738}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AAGAGGCCTCCGCCAGATTGG	0.532													C|||	55	0.0109824	0.0363	0.0086	5008	,	,		20061	0.0		0.001	False		,,,				2504	0.0				p.P1291L		Atlas-SNP	.											.	ABCC2	160	.	0			c.C3872T						PASS	.		LEU/PRO	145,4261	101.2+/-139.8	3,139,2061	95	89	91		3872	5.8	1	10	dbSNP_126	91	3,8597	2.2+/-6.3	0,3,4297	yes	missense	ABCC2	NM_000392.3	98	3,142,6358	TT,TC,CC		0.0349,3.291,1.1379	probably-damaging	1291/1546	101604107	148,12858	2203	4300	6503	SO:0001583	missense	1244	exon28			GGCCTCCGCCAGA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3872C>T	10.37:g.101604107C>T	ENSP00000359478:p.Pro1291Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	33	0.532258	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	C	18.14	3.557532	0.65425	0.03291	3.49E-4	ENSG00000023839	ENST00000370449	D	0.89681	-2.55	5.79	5.79	0.91817	.	0.099134	0.64402	D	0.000001	D	0.84556	0.5498	M	0.65320	2	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	D	0.87880	0.2677	10	0.87932	D	0	-8.0E-4	15.6234	0.76829	0.1379:0.8621:0.0:0.0	rs17216317;rs52825311;rs61667815	1291	Q92887	MRP2_HUMAN	L	1291	ENSP00000359478:P1291L	ENSP00000359478:P1291L	P	+	2	0	ABCC2	101594097	1.000000	0.71417	0.968000	0.41197	0.881000	0.50899	5.706000	0.68362	2.733000	0.93635	0.655000	0.94253	CCG	C|0.988;T|0.012	0.012	strong		0.532	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		T	101604107	C	T	101604107	3	4	22	1	0	0	0	0	1	0	0	0	53	652	23	1	3982	1	ABCC2	10	101604107	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	483436	101604107	33930640	5711	10819										
ABCC2	1244	hgsc.bcm.edu	37	chr10	101611294	101611294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacgggaagattatagagtGcggcagccctgaagaactgc	13	9	0	4	rs8187710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101611294G>A	ENST00000370449.4	+	32	4657	c.4544G>A	c.(4543-4545)tGc>tAc	p.C1515Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1515	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		C -> Y (in dbSNP:rs8187710). {ECO:0000269|PubMed:22290738, ECO:0000269|Ref.2}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATTATAGAGTGCGGCAGCCCT	0.418													A|||	340	0.0678914	0.1619	0.0548	5008	,	,		14647	0.0		0.0706	False		,,,				2504	0.0174				p.C1515Y		Atlas-SNP	.											ABCC2,NS,carcinoma,-1,1	ABCC2	160	1	0			c.G4544A						scavenged	.		TYR/CYS	692,3714	761.2+/-413.0	60,572,1571	117	117	117		4544	2	0.9	10	dbSNP_123	117	533,8067	795.7+/-407.5	14,505,3781	yes	missense	ABCC2	NM_000392.3	194	74,1077,5352	AA,AG,GG		6.1977,15.7059,9.4187	benign	1515/1546	101611294	1225,11781	2203	4300	6503	SO:0001583	missense	1244	exon32			TAGAGTGCGGCAG	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4544G>A	10.37:g.101611294G>A	ENSP00000359478:p.Cys1515Tyr	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	77	35	0.454545	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	152	0.0695970695970696	84	0.17073170731707318	22	0.06077348066298342	0	0.0	46	0.06068601583113457	A	8.691	0.907406	0.17833	0.157059	0.061977	ENSG00000023839	ENST00000370449	T	0.65549	-0.16	4.58	1.96	0.26148	ABC transporter-like (1);	0.109437	0.64402	N	0.000005	T	0.00073	0.0002	N	0.02334	-0.595	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06991	-1.0796	9	0.15952	T	0.53	-1.6801	4.8001	0.13292	0.3743:0.0:0.0982:0.5274	rs8187710;rs17222568;rs52804507;rs58135906;rs8187710	1515	Q92887	MRP2_HUMAN	Y	1515	ENSP00000359478:C1515Y	ENSP00000359478:C1515Y	C	+	2	0	ABCC2	101601284	0.174000	0.23070	0.931000	0.37212	0.717000	0.41224	0.593000	0.23999	0.241000	0.21283	-0.361000	0.07541	TGC	G|0.752;A|0.248	0.248	strong		0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101611294	G	A	101611294	3	1	22	1	0	0	0	0	1	0	0	0	53	1319	46	2	4670	2	ABCC2	10	101611294	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7187	101611294	33923453	5712	10820										
DNMBP	23268	hgsc.bcm.edu	37	chr10	101716112	101716112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtcctcgtcctgataagaGtttctgtctgtgtcatactc	9	10	3	2	rs35924554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101716112G>C	ENST00000324109.4	-	4	1210	c.1119C>G	c.(1117-1119)aaC>aaG	p.N373K	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.N373K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	373			N -> K (in dbSNP:rs35924554).		intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTGATAAGAGTTTCTGTCTG	0.557													G|||	248	0.0495208	0.0893	0.062	5008	,	,		18015	0.0288		0.0398	False		,,,				2504	0.0184				p.N373K		Atlas-SNP	.											.	DNMBP	173	.	0			c.C1119G						PASS	.		LYS/ASN	338,4068	176.6+/-205.7	9,320,1874	93	94	93		1119	-1.3	0	10	dbSNP_126	93	344,8256	117.4+/-177.0	5,334,3961	yes	missense	DNMBP	NM_015221.2	94	14,654,5835	CC,CG,GG		4.0,7.6714,5.2437	benign	373/1578	101716112	682,12324	2203	4300	6503	SO:0001583	missense	23268	exon4			ATAAGAGTTTCTG	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1119C>G	10.37:g.101716112G>C	ENSP00000315659:p.Asn373Lys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	116	0.05311355311355311	49	0.09959349593495935	21	0.058011049723756904	20	0.03496503496503497	26	0.03430079155672823	G	3.528	-0.096237	0.07010	0.076714	0.04	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11169	2.85;2.8	5.53	-1.33	0.09172	.	1.860880	0.02542	N	0.094741	T	0.00178	0.0005	N	0.19112	0.55	0.80722	P	0.0	B	0.20887	0.049	B	0.16722	0.016	T	0.27806	-1.0063	9	0.06494	T	0.89	2.8121	5.6267	0.17487	0.3019:0.2417:0.4563:0.0	rs35924554;rs61751506	373	Q6XZF7	DNMBP_HUMAN	K	373	ENSP00000344914:N373K;ENSP00000315659:N373K	ENSP00000315659:N373K	N	-	3	2	DNMBP	101706102	0.005000	0.15991	0.000000	0.03702	0.106000	0.19336	0.245000	0.18142	0.069000	0.16605	0.561000	0.74099	AAC	G|0.947;C|0.053	0.053	strong		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		C	101716112	G	C	101716112	3	2	22	1	0	0	0	0	1	0	0	0	4674	1020	36	4	3670	4	DNMBP	10	101716112	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	104818	101716112	33818635	5713	10821										
CPN1	1369	hgsc.bcm.edu	37	chr10	101824954	101824954	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccacataccttctggaaGagcttgtcgtcaggcgtggg	12	11	3	1	rs3750717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101824954G>A	ENST00000370418.3	-	4	1001	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	250	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCTTCTGGAAGAGCTTGTCGT	0.607													A|||	287	0.0573083	0.1097	0.0144	5008	,	,		15395	0.0516		0.0139	False		,,,				2504	0.0675				p.L250L		Atlas-SNP	.											.	CPN1	62	.	0			c.C750T						PASS	.			469,3937	741.6+/-411.3	23,423,1757	50	54	53		750	-4	1	10	dbSNP_107	53	139,8461	778.9+/-407.7	0,139,4161	no	coding-synonymous	CPN1	NM_001308.2		23,562,5918	AA,AG,GG		1.6163,10.6446,4.6748		250/459	101824954	608,12398	2203	4300	6503	SO:0001819	synonymous_variant	1369	exon4			CTGGAAGAGCTTG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.750C>T	10.37:g.101824954G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	54	26	0.481481	NM_001308	B1AP59	Silent	SNP	ENST00000370418.3	37	CCDS7486.1																																																																																			G|0.957;A|0.043	0.043	strong		0.607	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		A	101824954	G	A	101824954	2	1	22	1	0	0	0	0	0	0	0	1	3809	929	33	2		2	CPN1	10	101824954	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108842	101824954	33709793	5714	10822										
CPN1	1369	hgsc.bcm.edu	37	chr10	101835764	101835764	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatgcgctggttcctgttCcggaactcctcgcacagaaa	10	13	0	1	rs61754515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101835764C>G	ENST00000370418.3	-	2	575	c.324G>C	c.(322-324)cgG>cgC	p.R108R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	108	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GGTTCCTGTTCCGGAACTCCT	0.602													C|||	187	0.0373403	0.1324	0.0159	5008	,	,		18603	0.0		0.001	False		,,,				2504	0.0				p.R108R		Atlas-SNP	.											.	CPN1	62	.	0			c.G324C						PASS	.			560,3846	250.3+/-257.4	33,494,1676	143	118	126		324	-2.5	0.1	10	dbSNP_129	126	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CPN1	NM_001308.2		33,499,5971	GG,GC,CC		0.0581,12.7099,4.3441		108/459	101835764	565,12441	2203	4300	6503	SO:0001819	synonymous_variant	1369	exon2			CCTGTTCCGGAAC	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.324G>C	10.37:g.101835764C>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	88	46	0.522727	NM_001308	B1AP59	Silent	SNP	ENST00000370418.3	37	CCDS7486.1																																																																																			C|0.959;G|0.041	0.041	strong		0.602	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		G	101835764	C	G	101835764	2	3	22	1	0	0	0	0	0	0	0	1	3809	842	30	4		4	CPN1	10	101835764	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10810	101835764	33698983	5715	10823										
CWF19L1	55280	hgsc.bcm.edu	37	chr10	101993024	101993024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagggctcaaagtctttcCggaagcggcgagccagggtc	14	11	2	0	rs7922946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:101993024C>T	ENST00000354105.4	-	14	1663	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R241Q	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	526			R -> Q (in dbSNP:rs7922946).				catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAAGTCTTTCCGGAAGCGGCG	0.448													C|||	34	0.00678914	0.0257	0.0	5008	,	,		16484	0.0		0.0	False		,,,				2504	0.0				p.R526Q		Atlas-SNP	.											.	CWF19L1	39	.	0			c.G1577A						PASS	.	C	GLN/ARG	107,4299	83.4+/-121.9	1,105,2097	85	90	88		1577	2.5	1	10	dbSNP_116	88	0,8600		0,0,4300	yes	missense	CWF19L1	NM_018294.4	43	1,105,6397	TT,TC,CC		0.0,2.4285,0.8227	probably-damaging	526/539	101993024	107,12899	2203	4300	6503	SO:0001583	missense	55280	exon14			TCTTTCCGGAAGC	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1577G>A	10.37:g.101993024C>T	ENSP00000326411:p.Arg526Gln	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	CCDS7489.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	21.5	4.159440	0.78226	0.024285	0.0	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.30714	1.52;1.52	5.38	2.55	0.30701	Histidine triad motif (1);Cwf19-like protein, C-terminal domain-2 (1);	0.099847	0.64402	N	0.000004	T	0.31104	0.0786	M	0.79475	2.455	0.43168	D	0.994968	P;D;D	0.76494	0.815;0.993;0.999	B;P;P	0.60173	0.394;0.596;0.87	T	0.19063	-1.0317	10	0.41790	T	0.15	-3.3822	9.1705	0.37078	0.0:0.7604:0.0:0.2396	rs7922946;rs7922946	230;389;526	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	Q	526;241	ENSP00000326411:R526Q;ENSP00000359405:R241Q	ENSP00000326411:R526Q	R	-	2	0	CWF19L1	101983014	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	4.389000	0.59639	0.262000	0.21774	-0.219000	0.12488	CGG	C|0.993;T|0.007	0.007	strong		0.448	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		T	101993024	C	T	101993024	3	4	22	1	0	0	0	0	1	0	0	0	4071	652	23	1	43	1	CWF19L1	10	101993024	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	157260	101993024	33541723	5716	10824										
CWF19L1	55280	hgsc.bcm.edu	37	chr10	102016044	102016044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattcccaaagttccccacaCacttgggccatggggatgtg	10	12	0	0	rs2270962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102016044C>T	ENST00000354105.4	-	5	565	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	CWF19L1_ENST00000478047.1_5'Flank|RNU6-422P_ENST00000384632.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	160			C -> Y (in dbSNP:rs2270962).				catalytic activity (GO:0003824)	p.C160Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTTCCCCACACACTTGGGCCA	0.423													T|||	1257	0.250998	0.5998	0.1311	5008	,	,		18538	0.1419		0.0775	False		,,,				2504	0.1554				p.C160Y		Atlas-SNP	.											CWF19L1,NS,carcinoma,0,1	CWF19L1	39	1	1	Substitution - Missense(1)	stomach(1)	c.G479A						PASS	.	T	TYR/CYS	2270,2136	579.1+/-384.8	590,1090,523	129	121	124		479	4.8	1	10	dbSNP_100	124	569,8031	793.7+/-407.5	19,531,3750	yes	missense	CWF19L1	NM_018294.4	194	609,1621,4273	TT,TC,CC		6.6163,48.4793,21.8284	benign	160/539	102016044	2839,10167	2203	4300	6503	SO:0001583	missense	55280	exon5			CCCACACACTTGG	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.479G>A	10.37:g.102016044C>T	ENSP00000326411:p.Cys160Tyr	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	CCDS7489.1	475	0.2174908424908425	277	0.5630081300813008	47	0.1298342541436464	84	0.14685314685314685	67	0.08839050131926121	T	11.57	1.677721	0.29783	0.515207	0.066163	ENSG00000095485	ENST00000354105	T	0.27402	1.67	6.16	4.85	0.62838	.	0.261247	0.44483	N	0.000453	T	0.00012	0.0000	N	0.01352	-0.895	0.52501	P	4.499999999996174E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39502	-0.9611	9	0.32370	T	0.25	-3.1421	9.637	0.39814	0.0:0.1624:0.0:0.8376	rs2270962;rs52822289;rs59268290;rs2270962	23;160	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	Y	160	ENSP00000326411:C160Y	ENSP00000326411:C160Y	C	-	2	0	CWF19L1	102006034	0.996000	0.38824	0.998000	0.56505	0.940000	0.58332	1.883000	0.39658	1.152000	0.42452	-0.269000	0.10298	TGT	C|0.775;T|0.225	0.225	strong		0.423	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		T	102016044	C	T	102016044	3	4	22	1	0	0	0	0	1	0	0	0	4071	478	17	2	1177	2	CWF19L1	10	102016044	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23020	102016044	33518703	5717	10825										
BLOC1S2	282991	hgsc.bcm.edu	37	chr10	102046402	102046402	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggtcgccagtacgccctcGgctgccgccgccatagcgga	14	17	0	0	rs12250221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102046402G>C	ENST00000370372.2	-	1	67	c.15C>G	c.(13-15)gcC>gcG	p.A5A	BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_5'Flank	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	5					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GTACGCCCTCGGCTGCCGCCG	0.751													-|||	293	0.0585064	0.2148	0.0115	5008	,	,		12869	0.0		0.001	False		,,,				2504	0.0				p.A5A		Atlas-SNP	.											.	BLOC1S2	10	.	0			c.C15G						PASS	.			564,3608		30,504,1552	8	12	11		15	-6.3	0.1	10	dbSNP_120	11	10,8242		0,10,4116	no	coding-synonymous	BLOC1S2	NM_173809.2		30,514,5668	CC,CG,GG		0.1212,13.5187,4.6201		5/143	102046402	574,11850	2086	4126	6212	SO:0001819	synonymous_variant	282991	exon1			GCCCTCGGCTGCC	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"Biogenesis of lysosomal organelles complex-1 subunits"	20984	protein-coding gene	gene with protein product	"centrosome protein oncogene", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 2", "BLOC-1 subunit 2"	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.15C>G	10.37:g.102046402G>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	53	22	0.415094	NM_173809	B4DQV2|Q5W040|Q8WUI8	Silent	SNP	ENST00000370372.2	37	CCDS7490.1																																																																																			G|0.949;C|0.051	0.051	strong		0.751	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809		C	102046402	G	C	102046402	2	2	22	1	0	0	0	0	0	0	0	1	1449	1103	39	4		4	BLOC1S2	10	102046402	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30358	102046402	33488345	5718	10826										
WNT8B	7479	hgsc.bcm.edu	37	chr10	102242030	102242030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctagctctctccccaggcGgtgaagggcaccatgaaacg	11	14	1	2	rs9420786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102242030G>A	ENST00000343737.5	+	6	641	c.513G>A	c.(511-513)gcG>gcA	p.A171A		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	171					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)		CTCCCCAGGCGGTGAAGGGCA	0.622											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	90	0.0179712	0.0514	0.0029	5008	,	,		16675	0.002		0.001	False		,,,				2504	0.0174				p.A171A		Atlas-SNP	.											.	WNT8B	31	.	0			c.G513A						PASS	.	G		247,4131		4,239,1946	15	16	16		513	-3.3	0.9	10	dbSNP_119	16	2,8544		0,2,4271	no	coding-synonymous	WNT8B	NM_003393.3		4,241,6217	AA,AG,GG		0.0234,5.6418,1.9266		171/352	102242030	249,12675	2189	4273	6462	SO:0001819	synonymous_variant	7479	exon6			CCAGGCGGTGAAG	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.513G>A	10.37:g.102242030G>A		Somatic	17	0	0	1365	WXS	Illumina HiSeq	Phase_I	29	12	0.413793	NM_003393	O00771|Q5VX55|Q8WYK9	Silent	SNP	ENST00000343737.5	37	CCDS7494.1																																																																																			G|0.978;A|0.022	0.022	strong		0.622	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		A	102242030	G	A	102242030	2	1	22	1	0	0	0	0	0	0	0	1	17394	1103	39	1		1	WNT8B	10	102242030	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	195628	102242030	33292717	5719	10827										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102262227	102262227	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggaggccaaaagtaacCagcttccctccaaactggtg	11	12	0	0	rs143541316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102262227C>G	ENST00000370345.3	-	11	1291	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L	SEC31B_ENST00000494350.1_5'Flank|SEC31B_ENST00000451524.1_Silent_p.L398L	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	398					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CAAAAGTAACCAGCTTCCCTC	0.483													c|||	34	0.00678914	0.0219	0.0043	5008	,	,		19175	0.0		0.002	False		,,,				2504	0.0				p.L398L		Atlas-SNP	.											.	SEC31B	84	.	0			c.G1194C						PASS	.			126,4280	92.5+/-131.2	3,120,2080	40	42	41		1194	4.5	1	10	dbSNP_134	41	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	SEC31B	NM_015490.3		3,126,6374	GG,GC,CC		0.0698,2.8597,1.0149		398/1180	102262227	132,12874	2203	4300	6503	SO:0001819	synonymous_variant	25956	exon11			AGTAACCAGCTTC	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1194G>C	10.37:g.102262227C>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	40	18	0.45	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	CCDS7495.1																																																																																			C|0.990;G|0.010	0.010	strong		0.483	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		G	102262227	C	G	102262227	2	3	22	1	0	0	0	0	0	0	0	1	13999	581	21	4		4	SEC31B	10	102262227	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20197	102262227	33272520	5720	10828										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102269085	102269085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtagtacctggaaaggattCaagtcgagggctctgacagc	13	8	2	1	rs3793706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102269085C>A	ENST00000370345.3	-	4	484	c.387G>T	c.(385-387)ttG>ttT	p.L129F	SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000531258.1_Intron|SEC31B_ENST00000370329.5_Missense_Mutation_p.L129F|SEC31B_ENST00000451524.1_Missense_Mutation_p.L129F	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	129			L -> F (in dbSNP:rs3793706). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGAAAGGATTCAAGTCGAGGG	0.493											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	972	0.194089	0.23	0.1873	5008	,	,		18265	0.1319		0.1928	False		,,,				2504	0.2157				p.L129F		Atlas-SNP	.											.	SEC31B	84	.	0			c.G387T						PASS	.	A	PHE/LEU	1058,3348	723.6+/-409.4	131,796,1276	161	169	166		387	4.8	1	10	dbSNP_107	166	1899,6701	727.9+/-406.7	216,1467,2617	yes	missense	SEC31B	NM_015490.3	22	347,2263,3893	AA,AC,CC		22.0814,24.0127,22.7357	benign	129/1180	102269085	2957,10049	2203	4300	6503	SO:0001583	missense	25956	exon4			AGGATTCAAGTCG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.387G>T	10.37:g.102269085C>A	ENSP00000359370:p.Leu129Phe	Somatic	132	0	0	1365	WXS	Illumina HiSeq	Phase_I	127	61	0.480315	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	415	0.190018315018315	89	0.18089430894308944	72	0.19889502762430938	94	0.16433566433566432	160	0.21108179419525067	A	3.549	-0.092094	0.07053	0.240127	0.220814	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000370329	T;T;T	0.51325	0.71;0.71;0.71	5.9	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044767	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00053	-2.39	0.38832	P	0.04412700000000003	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.29882	-0.9997	9	0.02654	T	1	-10.7429	1.3668	0.02202	0.5458:0.1513:0.1581:0.1448	rs3793706;rs61612790;rs3793706	129;129;129;129	B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;SC31B_HUMAN	F	129	ENSP00000359370:L129F;ENSP00000391178:L129F;ENSP00000359354:L129F	ENSP00000359354:L129F	L	-	3	2	SEC31B	102259075	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.670000	0.25157	0.501000	0.28013	-0.362000	0.07510	TTG	C|0.796;A|0.204	0.204	strong		0.493	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102269085	C	A	102269085	3	1	22	1	0	0	0	0	1	0	0	0	13999	825	29	4	3244	4	SEC31B	10	102269085	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6858	102269085	33265662	5721	10829										
PAX2	5076	hgsc.bcm.edu	37	chr10	102568983	102568983	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggcacacagacatacccAgttgtgactggtaagggggc	13	10	1	2	rs1800898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102568983A>C	ENST00000428433.1	+	8	1528	c.978A>C	c.(976-978)ccA>ccC	p.P326P	PAX2_ENST00000355243.3_Silent_p.P303P|PAX2_ENST00000556085.1_Silent_p.P302P|PAX2_ENST00000370296.2_Silent_p.P326P|PAX2_ENST00000361791.3_Silent_p.P303P	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	326					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGACATACCCAGTTGTGACTG	0.607													C|||	1882	0.375799	0.8215	0.2363	5008	,	,		18525	0.0982		0.2594	False		,,,				2504	0.2781				p.P326P		Atlas-SNP	.											.	PAX2	83	.	0			c.A978C						PASS	.	C	,,,,	3261,1145	406.2+/-333.8	1229,803,171	77	67	70	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	909,978,909,909,978	-8.4	0	10	dbSNP_89	70	2458,6142	695.6+/-404.8	357,1744,2199	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PAX2	NM_000278.3,NM_003987.3,NM_003988.3,NM_003989.3,NM_003990.3	,,,,	1586,2547,2370	CC,CA,AA		28.5814,25.9873,43.972	,,,,	303/395,326/418,303/397,303/410,326/433	102568983	5719,7287	2203	4300	6503	SO:0001819	synonymous_variant	5076	exon8			ATACCCAGTTGTG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.978A>C	10.37:g.102568983A>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_003987	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	CCDS53569.1																																																																																			A|0.594;C|0.406	0.406	strong		0.607	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				C	102568983	A	C	102568983	2	2	22	1	0	0	0	0	0	0	0	1	11479	175	7	5		5	PAX2	10	102568983	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	299898	102568983	32965764	5722	10830										
LZTS2	84445	hgsc.bcm.edu	37	chr10	102762439	102762439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagctcctccccgccaccaCggccctcctgggcccacctt	7	24	0	0	rs142122181|rs35061268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102762439C>T	ENST00000370220.1	+	1	3207	c.144C>T	c.(142-144)caC>caT	p.H48H	LZTS2_ENST00000370223.3_Silent_p.H48H					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCCGCCACCACGGCCCTCCTG	0.682													C|||	6	0.00119808	0.003	0.0014	5008	,	,		16468	0.0		0.001	False		,,,				2504	0.0				p.H48H	Esophageal Squamous(8;38 437 13604 19902 37640)	Atlas-SNP	.											.	LZTS2	57	.	0			c.C144T						PASS	.	C		22,4384		0,22,2181	36	43	41		144	-9.3	0	10	dbSNP_134	41	2,8596		0,2,4297	no	coding-synonymous	LZTS2	NM_032429.2		0,24,6478	TT,TC,CC		0.0233,0.4993,0.1846		48/670	102762439	24,12980	2203	4299	6502	SO:0001819	synonymous_variant	84445	exon2			CCACCACGGCCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.144C>T	10.37:g.102762439C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	122	70	0.57377	NM_032429		Silent	SNP	ENST00000370220.1	37	CCDS7507.1																																																																																			C|0.998;T|0.002	0.002	strong		0.682	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		T	102762439	C	T	102762439	2	4	22	1	0	0	0	0	0	0	0	1	9139	535	19	1		1	LZTS2	10	102762439	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193456	102762439	32772308	5723	10831										
SFXN3	81855	hgsc.bcm.edu	37	chr10	102795819	102795819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttcaatgccattgttaActactccaaccgcagtggtg	8	12	1	0	rs35361377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:102795819A>T	ENST00000224807.5	+	5	860	c.404A>T	c.(403-405)aAc>aTc	p.N135I	SFXN3_ENST00000393459.1_Missense_Mutation_p.N131I	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	135					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCATTGTTAACTACTCCAAC	0.572													A|||	59	0.0117812	0.0431	0.0029	5008	,	,		18920	0.0		0.0	False		,,,				2504	0.0				p.N135I		Atlas-SNP	.											.	SFXN3	19	.	0			c.A404T						PASS	.	A	ILE/ASN	161,4245	109.1+/-147.4	3,155,2045	173	153	159		404	5.4	1	10	dbSNP_126	159	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SFXN3	NM_030971.3	149	3,156,6344	TT,TA,AA		0.0116,3.6541,1.2456	probably-damaging	135/326	102795819	162,12844	2203	4300	6503	SO:0001583	missense	81855	exon5			TTGTTAACTACTC	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"Sideroflexins"	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.404A>T	10.37:g.102795819A>T	ENSP00000224807:p.Asn135Ile	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	116	67	0.577586	NM_030971	Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	CCDS7508.2	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	A	29.2	4.982999	0.93044	0.036541	1.16E-4	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.54279	0.58;0.58	5.36	5.36	0.76844	.	0.041188	0.85682	D	0.000000	T	0.54886	0.1886	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.80699	-0.1266	10	0.87932	D	0	-24.293	15.3508	0.74384	1.0:0.0:0.0:0.0	rs35361377	139;135;135	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	I	131;135	ENSP00000377103:N131I;ENSP00000224807:N135I	ENSP00000224807:N135I	N	+	2	0	SFXN3	102785809	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	9.329000	0.96413	2.024000	0.59613	0.379000	0.24179	AAC	A|0.986;T|0.014	0.014	strong		0.572	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		T	102795819	A	T	102795819	3	4	22	1	0	0	0	0	1	0	0	0	14196	43	2	5	418	5	SFXN3	10	102795819	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33380	102795819	32738928	5724	10832										
DPCD	25911	hgsc.bcm.edu	37	chr10	103368654	103368654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacctctggatgacgcctTgctgagctttgcccacgcca	10	15	1	2	rs7006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:103368654T>C	ENST00000370151.4	+	5	516	c.467T>C	c.(466-468)tTg>tCg	p.L156S	DPCD_ENST00000370147.1_Missense_Mutation_p.C170R|DPCD_ENST00000370148.2_Missense_Mutation_p.C170R|FBXW4_ENST00000470093.1_5'Flank	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	156			L -> S (in dbSNP:rs7006). {ECO:0000269|PubMed:14630615, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GATGACGCCTTGCTGAGCTTT	0.537													T|||	1138	0.227236	0.2882	0.2233	5008	,	,		21971	0.1637		0.3111	False		,,,				2504	0.1268				p.L156S		Atlas-SNP	.											.	DPCD	15	.	0			c.T467C						PASS	.	T	SER/LEU	1354,3052	450.8+/-349.5	195,964,1044	211	189	196		467	-0.6	0.1	10	dbSNP_52	196	2639,5961	426.7+/-355.4	422,1795,2083	yes	missense	DPCD	NM_015448.1	145	617,2759,3127	CC,CT,TT		30.686,30.7308,30.7012	benign	156/204	103368654	3993,9013	2203	4300	6503	SO:0001583	missense	25911	exon5			ACGCCTTGCTGAG		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.467T>C	10.37:g.103368654T>C	ENSP00000359170:p.Leu156Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	36	0.387097	NM_015448	A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	CCDS7514.1	551|551	0.2522893772893773|0.2522893772893773	157|157	0.31910569105691056|0.31910569105691056	84|84	0.23204419889502761|0.23204419889502761	79|79	0.1381118881118881|0.1381118881118881	231|231	0.30474934036939316|0.30474934036939316	T|T	16.00|16.00	2.997571|2.997571	0.54147|0.54147	0.307308|0.307308	0.30686|0.30686	ENSG00000166171|ENSG00000166171	ENST00000370147;ENST00000370148|ENST00000370151	T;T|T	0.47869|0.28069	0.83;0.83|1.63	5.93|5.93	-0.552|-0.552	0.11818|0.11818	.|.	.|0.444204	.|0.25241	.|N	.|0.032083	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.12182|0.12182	0.205|0.205	0.22693|0.22693	P|P	0.99884019|0.99884019	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.44406|0.44406	-0.9330|-0.9330	6|9	0.87932|0.07990	D|T	0|0.79	-14.2862|-14.2862	10.3322|10.3322	0.43829|0.43829	0.0:0.5911:0.0:0.4089|0.0:0.5911:0.0:0.4089	rs7006;rs1047015;rs3187013;rs52814802;rs56505439;rs60202911;rs7006|rs7006;rs1047015;rs3187013;rs52814802;rs56505439;rs60202911;rs7006	.|156	.|Q9BVM2	.|DPCD_HUMAN	R|S	170|156	ENSP00000359166:C170R;ENSP00000359167:C170R|ENSP00000359170:L156S	ENSP00000359166:C170R|ENSP00000359170:L156S	C|L	+|+	1|2	0|0	DPCD|DPCD	103358644|103358644	0.055000|0.055000	0.20627|0.20627	0.079000|0.079000	0.20413|0.20413	0.768000|0.768000	0.43524|0.43524	0.568000|0.568000	0.23623|0.23623	-0.384000|-0.384000	0.07845|0.07845	-0.366000|-0.366000	0.07423|0.07423	TGC|TTG	T|0.720;C|0.280	0.280	strong		0.537	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			C	103368654	T	C	103368654	3	2	22	1	0	0	0	0	1	0	0	0	4711	1821	63	2	485	2	DPCD	10	103368654	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	572835	103368654	32166093	5725	10833										
NOLC1	9221	hgsc.bcm.edu	37	chr10	103920255	103920255	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccttctaagccagctggTaccaccaagaattcttcaaa	6	13	3	1	rs145855726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:103920255T>A	ENST00000605788.1	+	10	1381	c.1146T>A	c.(1144-1146)ggT>ggA	p.G382G	NOLC1_ENST00000405356.1_Silent_p.G392G|NOLC1_ENST00000488254.2_Silent_p.G383G|NOLC1_ENST00000603742.1_Silent_p.G101G	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	382	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCCAGCTGGTACCACCAAGA	0.542													T|||	7	0.00139776	0.0053	0.0	5008	,	,		20457	0.0		0.0	False		,,,				2504	0.0				p.G382G		Atlas-SNP	.											.	NOLC1	61	.	0			c.T1146A						PASS	.	T		31,4375	36.0+/-67.5	0,31,2172	63	67	66		1146	-1	0	10	dbSNP_134	66	0,8600		0,0,4300	yes	coding-synonymous	NOLC1	NM_004741.3		0,31,6472	AA,AT,TT		0.0,0.7036,0.2384		382/700	103920255	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	9221	exon10			AGCTGGTACCACC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1146T>A	10.37:g.103920255T>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	102	51	0.5	NM_004741	Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	CCDS7530.1																																																																																			T|0.997;A|0.003	0.003	strong		0.542	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		A	103920255	T	A	103920255	2	1	22	1	0	0	0	0	0	0	0	1	10529	1625	57	5		5	NOLC1	10	103920255	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	551601	103920255	31614492	5726	10834										
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210861	104210861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacatacatggtcggccccCcaggcggctgctgttcttac	10	15	1	0	rs73349055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:104210861C>A	ENST00000239125.1	-	2	201	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000494270.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	43										liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GGTCGGCCCCCCAGGCGGCTG	0.657													C|||	318	0.0634984	0.2315	0.0144	5008	,	,		11331	0.0		0.002	False		,,,				2504	0.0				p.G43W		Atlas-SNP	.											.	C10orf95	5	.	0			c.G127T						PASS	.	C	TRP/GLY	452,2752		21,410,1171	9	11	10		127	-0.7	0	10	dbSNP_130	10	11,6951		0,11,3470	yes	missense	C10orf95	NM_024886.1	184	21,421,4641	AA,AC,CC		0.158,14.1074,4.5544	probably-damaging	43/258	104210861	463,9703	1602	3481	5083	SO:0001583	missense	79946	exon2			GGCCCCCCAGGCG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.127G>T	10.37:g.104210861C>A	ENSP00000239125:p.Gly43Trp	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	16	7	0.4375	NM_024886	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	121	0.0554029304029304	115	0.23373983739837398	6	0.016574585635359115	0	0.0	0	0.0	C	12.67	2.007558	0.35415	0.141074	0.00158	ENSG00000120055	ENST00000239125	.	.	.	4.67	-0.695	0.11291	.	1.984030	0.02659	N	0.107299	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.63046	0.992	P	0.56751	0.805	T	0.04281	-1.0963	8	0.87932	D	0	-26.9089	1.7389	0.02948	0.1583:0.0984:0.3263:0.417	.	43	Q9H7T3	CJ095_HUMAN	W	43	.	ENSP00000239125:G43W	G	-	1	0	C10orf95	104200851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.146000	0.16180	-0.211000	0.10124	-0.350000	0.07774	GGG	C|0.954;A|0.046	0.046	strong		0.657	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210861	C	A	104210861	3	1	22	1	0	0	0	0	1	0	0	0	1626	623	22	4	650	4	C10orf95	10	104210861	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	290606	104210861	31323886	5727	10835										
SUFU	51684	hgsc.bcm.edu	37	chr10	104386934	104386934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccttgtgccttcacagatTctgttgaccgaagagtttgt	10	9	2	3	rs17114803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:104386934T>C	ENST00000369902.3	+	11	1465	c.1299T>C	c.(1297-1299)atT>atC	p.I433I		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	433					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CTTCACAGATTCTGTTGACCG	0.398			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				T|||	1232	0.246006	0.2277	0.2378	5008	,	,		20545	0.4335		0.0934	False		,,,				2504	0.2403				p.I433I		Atlas-SNP	.	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	.	SUFU	44	.	0			c.T1299C						PASS	.	T		954,3452	362.1+/-316.0	97,760,1346	169	169	169		1299	2.2	1	10	dbSNP_123	169	717,7883	175.5+/-225.5	26,665,3609	no	coding-synonymous	SUFU	NM_016169.3		123,1425,4955	CC,CT,TT		8.3372,21.6523,12.8479		433/485	104386934	1671,11335	2203	4300	6503	SO:0001819	synonymous_variant	51684	exon11	Familial Cancer Database		ACAGATTCTGTTG	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1299T>C	10.37:g.104386934T>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_016169	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	CCDS7537.1																																																																																			T|0.814;C|0.186	0.186	strong		0.398	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		C	104386934	T	C	104386934	2	2	22	1	0	0	0	0	0	0	0	1	15367	1771	62	2		2	SUFU	10	104386934	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	176073	104386934	31147813	5728	10836										
SFXN2	118980	hgsc.bcm.edu	37	chr10	104486489	104486489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttcctaaacatcacggaCccccgcactgtctttgtatc	5	16	2	0	rs35153373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:104486489C>T	ENST00000369893.5	+	2	263	c.96C>T	c.(94-96)gaC>gaT	p.D32D	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	32					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACATCACGGACCCCCGCACTG	0.597													C|||	98	0.0195687	0.0719	0.0043	5008	,	,		19104	0.0		0.0	False		,,,				2504	0.0				p.D32D		Atlas-SNP	.											.	SFXN2	40	.	0			c.C96T						PASS	.	C		273,4133	153.3+/-186.9	5,263,1935	91	90	90		96	1.1	1	10	dbSNP_126	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SFXN2	NM_178858.4		5,264,6234	TT,TC,CC		0.0116,6.1961,2.1067		32/323	104486489	274,12732	2203	4300	6503	SO:0001819	synonymous_variant	118980	exon2			CACGGACCCCCGC	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.96C>T	10.37:g.104486489C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	156	77	0.49359	NM_178858	Q5JSM6	Silent	SNP	ENST00000369893.5	37	CCDS7539.1																																																																																			C|0.980;T|0.020	0.020	strong		0.597	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		T	104486489	C	T	104486489	2	4	22	1	0	0	0	0	0	0	0	1	14195	506	18	2		2	SFXN2	10	104486489	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99555	104486489	31048258	5729	10837										
SFXN2	118980	hgsc.bcm.edu	37	chr10	104486822	104486822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgactcggccttccacccCgacactggggagaagatgaa	11	12	0	4	rs35094483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:104486822C>T	ENST00000369893.5	+	3	407	c.240C>T	c.(238-240)ccC>ccT	p.P80P	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	80					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCTTCCACCCCGACACTGGGG	0.597													C|||	166	0.033147	0.121	0.0086	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0				p.P80P		Atlas-SNP	.											.	SFXN2	40	.	0			c.C240T						PASS	.	C		444,3962	212.2+/-232.1	13,418,1772	84	74	77		240	-5.3	1	10	dbSNP_126	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SFXN2	NM_178858.4		13,420,6070	TT,TC,CC		0.0233,10.0772,3.4292		80/323	104486822	446,12560	2203	4300	6503	SO:0001819	synonymous_variant	118980	exon3			CCACCCCGACACT	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.240C>T	10.37:g.104486822C>T		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	191	190	0.994764	NM_178858	Q5JSM6	Silent	SNP	ENST00000369893.5	37	CCDS7539.1																																																																																			C|0.969;T|0.031	0.031	strong		0.597	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		T	104486822	C	T	104486822	2	4	22	1	0	0	0	0	0	0	0	1	14195	639	23	1		1	SFXN2	10	104486822	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	333	104486822	31047925	5730	10838										
CALHM2	51063	hgsc.bcm.edu	37	chr10	105207176	105207176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacccgagagtgcacctcGgccgtgcgctggaacagctg	14	14	0	1	rs2232663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:105207176G>A	ENST00000260743.5	-	4	1228	c.705C>T	c.(703-705)gcC>gcT	p.A235A	CALHM2_ENST00000369788.3_Silent_p.A235A|CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	235					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGTGCACCTCGGCCGTGCGCT	0.597													G|||	370	0.0738818	0.2663	0.0216	5008	,	,		20251	0.0		0.003	False		,,,				2504	0.0				p.A235A		Atlas-SNP	.											.	CALHM2	30	.	0			c.C705T						PASS	.	G		896,3510	345.7+/-308.6	84,728,1391	67	61	63		705	-8.1	0.7	10	dbSNP_98	63	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous	CALHM2	NM_015916.4		84,755,5664	AA,AG,GG		0.314,20.3359,7.0967		235/324	105207176	923,12083	2203	4300	6503	SO:0001819	synonymous_variant	51063	exon4			CACCTCGGCCGTG	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.705C>T	10.37:g.105207176G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_015916	D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	CCDS7549.1																																																																																			G|0.925;A|0.075	0.075	strong		0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105207176	G	A	105207176	2	1	22	1	0	0	0	0	0	0	0	1	2583	1103	39	1		1	CALHM2	10	105207176	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	720354	105207176	30327571	5731	10839										
CALHM1	255022	hgsc.bcm.edu	37	chr10	105215071	105215071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcggaggccggggcccaCccccagcccagccgttgccc	13	20	0	0	rs114015468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:105215071C>T	ENST00000329905.5	-	2	1125	c.989G>A	c.(988-990)gGt>gAt	p.G330D	CALHM2_ENST00000260743.5_5'Flank|CALHM2_ENST00000369788.3_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	330					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCGGGGCCCACCCCCAGCCCA	0.662													C|||	63	0.0125799	0.0477	0.0	5008	,	,		17190	0.0		0.0	False		,,,				2504	0.0				p.G330D		Atlas-SNP	.											.	CALHM1	33	.	0			c.G989A						PASS	.	C	ASP/GLY	151,4255	95.7+/-134.4	1,149,2053	30	27	28		989	1.8	0	10	dbSNP_132	28	1,8599	2.2+/-6.3	0,1,4299	yes	missense	CALHM1	NM_001001412.3	94	1,150,6352	TT,TC,CC		0.0116,3.4271,1.1687	benign	330/347	105215071	152,12854	2203	4300	6503	SO:0001583	missense	255022	exon2			GGCCCACCCCCAG	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.989G>A	10.37:g.105215071C>T	ENSP00000329926:p.Gly330Asp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	123	75	0.609756	NM_001001412	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	C	0.028	-1.354143	0.01256	0.034271	1.16E-4	ENSG00000185933	ENST00000329905	T	0.17054	2.3	4.8	1.83	0.25207	.	1.229190	0.05379	N	0.536826	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.18561	0.022	T	0.36625	-0.9740	10	0.13108	T	0.6	-4.9354	5.3984	0.16283	0.0:0.5539:0.146:0.3001	.	330	Q8IU99	CAHM1_HUMAN	D	330	ENSP00000329926:G330D	ENSP00000329926:G330D	G	-	2	0	CALHM1	105205061	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.057000	0.11768	0.169000	0.19679	-0.379000	0.06801	GGT	C|0.988;T|0.012	0.012	strong		0.662	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		T	105215071	C	T	105215071	3	4	22	1	0	0	0	0	1	0	0	0	2582	507	18	2	55	2	CALHM1	10	105215071	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7895	105215071	30319676	5732	10840										
OBFC1	79991	hgsc.bcm.edu	37	chr10	105657363	105657363	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagggacagcaaagactcCaccatttccagctcctgctg	9	14	0	1	rs11191853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:105657363C>G	ENST00000224950.3	-	7	863	c.696G>C	c.(694-696)gtG>gtC	p.V232V	OBFC1_ENST00000369764.1_Silent_p.V232V|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	232	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCAAAGACTCCACCATTTCCA	0.527													C|||	942	0.188099	0.2035	0.2046	5008	,	,		19002	0.1577		0.2545	False		,,,				2504	0.1186				p.V232V		Atlas-SNP	.											.	OBFC1	33	.	0			c.G696C						PASS	.	C		957,3449	362.1+/-316.0	115,727,1361	131	108	116		696	5.4	0.5	10	dbSNP_120	116	2007,6593	351.9+/-328.4	205,1597,2498	no	coding-synonymous	OBFC1	NM_024928.4		320,2324,3859	GG,GC,CC		23.3372,21.7204,22.7895		232/369	105657363	2964,10042	2203	4300	6503	SO:0001819	synonymous_variant	79991	exon7			AGACTCCACCATT	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.696G>C	10.37:g.105657363C>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	117	115	0.982906	NM_024928	D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	CCDS7552.1																																																																																			C|0.780;G|0.220	0.220	strong		0.527	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		G	105657363	C	G	105657363	2	3	22	1	0	0	0	0	0	0	0	1	10807	581	21	4		4	OBFC1	10	105657363	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	442292	105657363	29877384	5733	10841										
COL17A1	1308	hgsc.bcm.edu	37	chr10	105824332	105824332	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaggttggcatccaggatCgttgcatcgtaggtgcctga	15	8	0	1	rs149012179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:105824332C>T	ENST00000353479.5	-	10	920	c.630G>A	c.(628-630)acG>acA	p.T210T	COL17A1_ENST00000393211.3_Silent_p.T210T|COL17A1_ENST00000369733.3_Silent_p.T210T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	210	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).		T -> M (in dbSNP:rs805708). {ECO:0000269|PubMed:15489334}.		cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATCCAGGATCGTTGCATCGT	0.547													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		15732	0.0		0.0	False		,,,				2504	0.0				p.T210T		Atlas-SNP	.											.	COL17A1	149	.	0			c.G630A						PASS	.	C		90,4316	74.7+/-112.8	0,90,2113	119	81	94		630	-8	0.1	10	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	COL17A1	NM_000494.3		0,90,6413	TT,TC,CC		0.0,2.0427,0.692		210/1498	105824332	90,12916	2203	4300	6503	SO:0001819	synonymous_variant	1308	exon10			CAGGATCGTTGCA	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.630G>A	10.37:g.105824332C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	156	79	0.50641	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																			C|0.993;T|0.007	0.007	strong		0.547	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105824332	C	T	105824332	2	4	22	1	0	0	0	0	0	0	0	1	3674	871	31	1		1	COL17A1	10	105824332	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166969	105824332	29710415	5734	10842										
C10orf79	80217	hgsc.bcm.edu	37	chr10	105906077	105906077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacacatccaggtcttctcTagatttccgaacagcttctg	7	13	3	1	rs369682196		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:105906077T>C	ENST00000357060.3	-	30	3914	c.3799A>G	c.(3799-3801)Aga>Gga	p.R1267G	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGTCTTCTCTAGATTTCCGA	0.418																																					p.R1267G		Atlas-SNP	.											WDR96,NS,carcinoma,+1,1	WDR96	183	1	0			c.A3799G						PASS	.	T	GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	139	125	130		3799	3.5	0	10		130	0,8600		0,0,4300	no	missense	WDR96	NM_025145.5	125	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	1267/1666	105906077	1,13005	2203	4300	6503	SO:0001583	missense	80217	exon30			CTTCTCTAGATTT																												ENST00000357060.3:c.3799A>G	10.37:g.105906077T>C	ENSP00000349568:p.Arg1267Gly	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	167	85	0.508982	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	7.040	0.562289	0.13498	2.27E-4	0.0	ENSG00000197748	ENST00000357060	T	0.14640	2.49	6.07	3.55	0.40652	.	0.466125	0.21837	N	0.068397	T	0.15132	0.0365	M	0.63428	1.95	0.09310	N	1	P	0.43094	0.799	B	0.36092	0.217	T	0.08973	-1.0696	10	0.51188	T	0.08	.	13.497	0.61432	0.0:0.0:0.2551:0.7449	.	1267	Q8NDM7	WDR96_HUMAN	G	1267	ENSP00000349568:R1267G	ENSP00000349568:R1267G	R	-	1	2	WDR96	105896067	0.005000	0.15991	0.036000	0.18154	0.021000	0.10359	1.590000	0.36654	1.078000	0.41014	0.533000	0.62120	AGA	.	.	none		0.418	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	105906077	T	C	105906077	3	2	22	1	0	0	0	0	1	0	0	0	1618	1530	53	3	1234	3	C10orf79	10	105906077	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	81745	105906077	29628670	5735	10843										
GSTO2	119391	hgsc.bcm.edu	37	chr10	106058940	106058940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatcagccatgaagtgggaCcccacagtctgtgctcttct	9	12	4	1	rs157078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:106058940C>T	ENST00000338595.2	+	7	950	c.630C>T	c.(628-630)gaC>gaT	p.D210D	GSTO2_ENST00000369707.2_Silent_p.D182D|GSTO2_ENST00000450629.2_Silent_p.D176D|GSTO2_ENST00000429569.2_Missense_Mutation_p.P113S	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	210	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGAAGTGGGACCCCACAGTCT	0.522													C|||	247	0.0493211	0.1823	0.0086	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.0				p.D210D		Atlas-SNP	.											.	GSTO2	23	.	0			c.C630T						PASS	.	C	,,,	643,3763	276.0+/-272.9	61,521,1621	104	100	101		528,546,444,630	4.1	1	10	dbSNP_79	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSTO2	NM_001191013.1,NM_001191014.1,NM_001191015.1,NM_183239.1	,,,	61,523,5919	TT,TC,CC		0.0233,14.5937,4.9592	,,,	176/210,182/216,148/182,210/244	106058940	645,12361	2203	4300	6503	SO:0001819	synonymous_variant	119391	exon7			GTGGGACCCCACA	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.630C>T	10.37:g.106058940C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	130	61	0.469231	NM_183239	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Silent	SNP	ENST00000338595.2	37	CCDS7556.1	76	0.0347985347985348	71	0.1443089430894309	5	0.013812154696132596	0	0.0	0	0.0	C	13.14	2.149018	0.37923	0.145937	2.33E-4	ENSG00000065621	ENST00000429569	T	0.13901	2.55	5.9	4.06	0.47325	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.24759	N	0.992935	B	0.12630	0.006	B	0.11329	0.006	T	0.36553	-0.9743	8	0.33141	T	0.24	-34.5724	8.1478	0.31121	0.0:0.8242:0.0:0.1758	rs157078;rs545826;rs157078	113	B4DML4	.	S	113	ENSP00000407381:P113S	ENSP00000407381:P113S	P	+	1	0	GSTO2	106048930	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	0.617000	0.24359	1.501000	0.48654	0.563000	0.77884	CCC	C|0.952;T|0.048	0.048	strong		0.522	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		T	106058940	C	T	106058940	2	4	22	1	0	0	0	0	0	0	0	1	6843	506	18	2		2	GSTO2	10	106058940	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152863	106058940	29475807	5736	10844										
CCDC147	159686	hgsc.bcm.edu	37	chr10	106152111	106152111	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctatatgaagctgtgagaTcagacagaaatctgtatagc	9	7	2	4	rs11192036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:106152111T>A	ENST00000369704.3	+	10	1620	c.1486T>A	c.(1486-1488)Tca>Aca	p.S496T		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		496			S -> T (in dbSNP:rs11192036).			extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCTGTGAGATCAGACAGAAA	0.303													T|||	1104	0.220447	0.2042	0.1945	5008	,	,		16246	0.2341		0.2634	False		,,,				2504	0.2025				p.S496T		Atlas-SNP	.											.	CCDC147	137	.	0			c.T1486A						PASS	.	T	THR/SER	872,3532	315.2+/-294.0	93,686,1423	54	61	59		1486	5.5	1	10	dbSNP_120	59	2203,6393	358.1+/-331.0	281,1641,2376	yes	missense	CCDC147	NM_001008723.1	58	374,2327,3799	AA,AT,TT		25.6282,19.8002,23.6538	benign	496/873	106152111	3075,9925	2202	4298	6500	SO:0001583	missense	159686	exon10			GTGAGATCAGACA																												ENST00000369704.3:c.1486T>A	10.37:g.106152111T>A	ENSP00000358718:p.Ser496Thr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	65	35	0.538462	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	519	0.23763736263736263	98	0.1991869918699187	75	0.20718232044198895	149	0.26048951048951047	197	0.2598944591029024	T	12.33	1.905796	0.33628	0.198002	0.256282	ENSG00000120051	ENST00000369704	T	0.44482	0.92	5.49	5.49	0.81192	.	0.260201	0.38897	N	0.001522	T	0.00012	0.0000	L	0.31804	0.96	0.09310	P	1.0	B	0.25521	0.128	B	0.25405	0.06	T	0.28396	-1.0045	9	0.17832	T	0.49	-4.5368	11.393	0.49825	0.1433:0.0:0.0:0.8567	rs11192036;rs17755504;rs52829473;rs11192036	496	Q5T655	CC147_HUMAN	T	496	ENSP00000358718:S496T	ENSP00000358718:S496T	S	+	1	0	CCDC147	106142101	0.999000	0.42202	0.994000	0.49952	0.920000	0.55202	2.502000	0.45398	2.093000	0.63338	0.533000	0.62120	TCA	T|0.767;A|0.233	0.233	strong		0.303	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			A	106152111	T	A	106152111	3	1	22	1	0	0	0	0	1	0	0	0	2781	1435	50	5	1524	5	CCDC147	10	106152111	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93171	106152111	29382636	5737	10845										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108367020	108367020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggtaagccagggagcacCgccaccaggatgtgctggcc	16	12	0	0	rs7082289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:108367020C>T	ENST00000263054.6	-	23	3076	c.3069G>A	c.(3067-3069)gcG>gcA	p.A1023A	SORCS1_ENST00000344440.6_Silent_p.A1023A|SORCS1_ENST00000369698.1_Silent_p.A558A|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1023					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGAGCACCGCCACCAGGA	0.552													C|||	1187	0.237021	0.323	0.0994	5008	,	,		19392	0.2401		0.0765	False		,,,				2504	0.3804				p.A1023A		Atlas-SNP	.											.	SORCS1	534	.	0			c.G3069A						PASS	.	C	,,,,,	1246,3160	428.5+/-341.9	184,878,1141	70	67	68		3069,3069,3069,3069,3069,3069	-11.8	0	10	dbSNP_116	68	721,7879	175.9+/-225.9	31,659,3610	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	215,1537,4751	TT,TC,CC		8.3837,28.2796,15.1238	,,,,,	1023/1199,1023/1180,1023/1131,1023/1160,1023/1180,1023/1169	108367020	1967,11039	2203	4300	6503	SO:0001819	synonymous_variant	114815	exon23			GAGCACCGCCACC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3069G>A	10.37:g.108367020C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1	358	0.16391941391941392	135	0.27439024390243905	36	0.09944751381215469	125	0.21853146853146854	62	0.08179419525065963	C	5.613	0.297926	0.10622	0.282796	0.083837	ENSG00000108018	ENST00000452214	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999955085	.	.	.	.	.	.	T	0.23976	-1.0173	3	.	.	.	-22.0366	9.601	0.39603	0.055:0.1218:0.2746:0.5486	rs7082289;rs60556865;rs7082289	.	.	.	Q	38	.	.	R	-	2	0	SORCS1	108357010	0.000000	0.05858	0.001000	0.08648	0.710000	0.40934	-2.984000	0.00661	-5.598000	0.00012	-0.136000	0.14681	CGG	C|0.839;T|0.161	0.161	strong		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108367020	C	T	108367020	2	4	22	1	0	0	0	0	0	0	0	1	14930	639	23	1		1	SORCS1	10	108367020	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2214909	108367020	27167727	5738	10846										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108380213	108380213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtttccgtaccaccacacGtaagtgagggtgcccacttg	10	12	0	1	rs4917481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:108380213G>A	ENST00000263054.6	-	20	2776	c.2769C>T	c.(2767-2769)taC>taT	p.Y923Y	SORCS1_ENST00000344440.6_Silent_p.Y923Y|SORCS1_ENST00000369698.1_Silent_p.Y458Y|SORCS1_ENST00000478809.2_5'Flank	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	923					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCACCACACGTAAGTGAGGG	0.547													A|||	1883	0.375998	0.4682	0.2435	5008	,	,		12097	0.5069		0.171	False		,,,				2504	0.4213				p.Y923Y		Atlas-SNP	.											.	SORCS1	534	.	0			c.C2769T						PASS	.	A	,,,,,	1883,2523	630.4+/-395.5	403,1077,723	170	136	147		2769,2769,2769,2769,2769,2769	-3.2	0.8	10	dbSNP_111	147	1450,7150	751.3+/-407.4	117,1216,2967	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	520,2293,3690	AA,AG,GG		16.8605,42.7372,25.6266	,,,,,	923/1199,923/1180,923/1131,923/1160,923/1180,923/1169	108380213	3333,9673	2203	4300	6503	SO:0001819	synonymous_variant	114815	exon20			CCACACGTAAGTG	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2769C>T	10.37:g.108380213G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	107	57	0.53271	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			G|0.707;A|0.293	0.293	strong		0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108380213	G	A	108380213	2	1	22	1	0	0	0	0	0	0	0	1	14930	1140	40	1		1	SORCS1	10	108380213	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13193	108380213	27154534	5739	10847										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108389111	108389111	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaccgcgataccatcgccAaagtccacttggatgagtgt	10	12	0	1	rs3802553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:108389111A>G	ENST00000263054.6	-	19	2518	c.2511T>C	c.(2509-2511)ttT>ttC	p.F837F	SORCS1_ENST00000344440.6_Silent_p.F837F|SORCS1_ENST00000369698.1_Silent_p.F372F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	837	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACCATCGCCAAAGTCCACTT	0.512													A|||	1162	0.232029	0.2829	0.1052	5008	,	,		21478	0.3383		0.0815	False		,,,				2504	0.2986				p.F837F		Atlas-SNP	.											.	SORCS1	534	.	0			c.T2511C						PASS	.	A	,,,,,	1141,3265	404.6+/-333.2	146,849,1208	141	102	115		2511,2511,2511,2511,2511,2511	-9	0.1	10	dbSNP_107	115	637,7963	163.8+/-216.2	27,583,3690	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	173,1432,4898	GG,GA,AA		7.407,25.8965,13.6706	,,,,,	837/1199,837/1180,837/1131,837/1160,837/1180,837/1169	108389111	1778,11228	2203	4300	6503	SO:0001819	synonymous_variant	114815	exon19			ATCGCCAAAGTCC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2511T>C	10.37:g.108389111A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	81	43	0.530864	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			A|0.841;G|0.159	0.159	strong		0.512	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		G	108389111	A	G	108389111	2	3	22	1	0	0	0	0	0	0	0	1	14930	127	5	2		2	SORCS1	10	108389111	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8898	108389111	27145636	5740	10848										
SMC3	9126	hgsc.bcm.edu	37	chr10	112349422	112349422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaactggacagaaaataTtacgaagtaaaaaataagaa	8	3	0	3	rs75323904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:112349422T>C	ENST00000361804.4	+	14	1491	c.1365T>C	c.(1363-1365)taT>taC	p.Y455Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	455					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACAGAAAATATTACGAAGTAA	0.284													T|||	249	0.0497204	0.1135	0.0447	5008	,	,		19657	0.0		0.0417	False		,,,				2504	0.0266				p.Y455Y		Atlas-SNP	.											.	SMC3	103	.	0			c.T1365C						PASS	.	T		466,3938	205.8+/-227.6	29,408,1765	29	30	29		1365	-0.4	1	10	dbSNP_132	29	378,8216	121.1+/-180.3	5,368,3924	no	coding-synonymous	SMC3	NM_005445.3		34,776,5689	CC,CT,TT		4.3984,10.5813,6.4933		455/1218	112349422	844,12154	2202	4297	6499	SO:0001819	synonymous_variant	9126	exon14			AAAATATTACGAA	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1365T>C	10.37:g.112349422T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	189	95	0.502645	NM_005445	A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	CCDS31285.1																																																																																			T|0.942;C|0.058	0.058	strong		0.284	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		C	112349422	T	C	112349422	2	2	22	1	0	0	0	0	0	0	0	1	14784	1500	52	2		2	SMC3	10	112349422	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3960311	112349422	23185325	5741	10849										
ADRA2A	150	hgsc.bcm.edu	37	chr10	112838135	112838135	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgagatctacctggcgctCgacgtgctcttctgcacgtc	11	14	3	1	rs142434876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:112838135C>G	ENST00000280155.2	+	1	1346	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	112					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCTGGCGCTCGACGTGCTCT	0.602													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		15105	0.0		0.0	False		,,,				2504	0.0				p.L127L	Esophageal Squamous(173;605 2658 7278 49362)	Atlas-SNP	.											.	ADRA2A	38	.	0			c.C381G						PASS	.	C		32,4374	36.8+/-68.6	0,32,2171	94	75	82		381	2.3	1	10	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	ADRA2A	NM_000681.3		0,32,6471	GG,GC,CC		0.0,0.7263,0.246		127/466	112838135	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			GGCGCTCGACGTG	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.381C>G	10.37:g.112838135C>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	172	97	0.563953	NM_000681	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			C|0.998;G|0.002	0.002	strong		0.602	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		G	112838135	C	G	112838135	2	3	22	1	0	0	0	0	0	0	0	1	337	871	31	4		4	ADRA2A	10	112838135	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	488713	112838135	22696612	5742	10850										
GPAM	57678	hgsc.bcm.edu	37	chr10	113920465	113920465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgataaaaaactcatcGttcctgctagtgtgggtgat	13	6	1	2	rs2277207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:113920465G>A	ENST00000348367.4	-	16	1853	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	GPAM_ENST00000423155.1_Silent_p.N552N|GPAM_ENST00000369425.1_Silent_p.N552N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	552					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAAACTCATCGTTCCTGCTAG	0.453													G|||	2772	0.553514	0.528	0.4553	5008	,	,		19398	0.6002		0.5437	False		,,,				2504	0.6196				p.N552N	Ovarian(161;1017 2606 18293 52943)	Atlas-SNP	.											.	GPAM	68	.	0			c.C1656T						PASS	.	G		2218,2188	590.7+/-387.4	553,1112,538	153	126	135		1656	-12.1	0	10	dbSNP_100	135	5045,3555	630.2+/-398.3	1498,2049,753	no	coding-synonymous	GPAM	NM_020918.4		2051,3161,1291	AA,AG,GG		41.3372,49.6596,44.1565		552/829	113920465	7263,5743	2203	4300	6503	SO:0001819	synonymous_variant	57678	exon16			CTCATCGTTCCTG	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1656C>T	10.37:g.113920465G>A		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	229	229	1	NM_001244949	Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	CCDS7570.1																																																																																			G|0.445;A|0.555	0.555	strong		0.453	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113920465	G	A	113920465	2	1	22	1	0	0	0	0	0	0	0	1	6588	1136	40	1		1	GPAM	10	113920465	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1082330	113920465	21614282	5743	10851										
GPAM	57678	hgsc.bcm.edu	37	chr10	113935379	113935379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgctgttcagcacatttTcagtcacattggtggcaaac	8	10	3	0	rs10787428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:113935379T>C	ENST00000348367.4	-	6	589	c.392A>G	c.(391-393)gAa>gGa	p.E131G	GPAM_ENST00000369425.1_Missense_Mutation_p.E131G|GPAM_ENST00000423155.1_Missense_Mutation_p.E131G			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	131			E -> G (in dbSNP:rs10787428).		acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAGCACATTTTCAGTCACATT	0.502													T|||	2778	0.554712	0.528	0.4582	5008	,	,		20154	0.6042		0.5437	False		,,,				2504	0.6196				p.E131G	Ovarian(161;1017 2606 18293 52943)	Atlas-SNP	.											.	GPAM	68	.	0			c.A392G	GRCh37	CM067418	GPAM	M	rs10787428	PASS	.	T	GLY/GLU	2220,2186	591.0+/-387.5	554,1112,537	184	157	166		392	5.1	0.7	10	dbSNP_120	166	5054,3546	630.8+/-398.4	1504,2046,750	yes	missense	GPAM	NM_020918.4	98	2058,3158,1287	CC,CT,TT		41.2326,49.6142,44.072	benign	131/829	113935379	7274,5732	2203	4300	6503	SO:0001583	missense	57678	exon6			ACATTTTCAGTCA	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.392A>G	10.37:g.113935379T>C	ENSP00000265276:p.Glu131Gly	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_001244949	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	1198	0.5485347985347986	278	0.5650406504065041	170	0.4696132596685083	338	0.5909090909090909	412	0.5435356200527705	T	18.26	3.584072	0.65992	0.503858	0.587674	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.70869	-0.52;-0.52;-0.51	5.11	5.11	0.69529	.	0.118515	0.56097	D	0.000025	T	0.00012	0.0000	M	0.62723	1.935	0.18873	P	0.9999885123	P;B	0.34562	0.457;0.247	B;B	0.27608	0.081;0.057	T	0.48547	-0.9026	9	0.44086	T	0.13	-12.3902	13.5006	0.61452	0.0:0.0:0.0:1.0	rs10787428;rs52812454;rs59176203;rs10787428	131;131	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	G	131	ENSP00000265276:E131G;ENSP00000409242:E131G;ENSP00000358433:E131G	ENSP00000265276:E131G	E	-	2	0	GPAM	113925369	1.000000	0.71417	0.729000	0.30791	0.982000	0.71751	7.129000	0.77225	1.929000	0.55896	0.528000	0.53228	GAA	C|0.558;N|0.000	0.558	strong		0.502	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		C	113935379	T	C	113935379	3	2	22	1	0	0	0	0	1	0	0	0	6588	1783	62	2	2162	2	GPAM	10	113935379	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14914	113935379	21599368	5744	10852										
ACSL5	51703	hgsc.bcm.edu	37	chr10	114181773	114181773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgacatgaactactttAcagtgaataatgaaggagag	11	5	0	5	rs12254915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:114181773A>G	ENST00000393081.1	+	16	1763	c.1456A>G	c.(1456-1458)Aca>Gca	p.T486A	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.T486A|ACSL5_ENST00000369410.3_Missense_Mutation_p.T268A|ACSL5_ENST00000433418.1_Missense_Mutation_p.T486A|ACSL5_ENST00000354273.4_Missense_Mutation_p.T486A|ACSL5_ENST00000356116.1_Missense_Mutation_p.T542A	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	486			T -> A (in dbSNP:rs12254915).		cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAACTACTTTACAGTGAATAA	0.458													A|||	75	0.014976	0.0552	0.0029	5008	,	,		20705	0.0		0.0	False		,,,				2504	0.0				p.T542A		Atlas-SNP	.											.	ACSL5	51	.	0			c.A1624G						PASS	.	A	ALA/THR,ALA/THR,ALA/THR	193,4213	122.9+/-160.3	2,189,2012	135	132	133		1624,1456,1456	0.6	0.7	10	dbSNP_120	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ACSL5	NM_016234.3,NM_203379.1,NM_203380.1	58,58,58	2,190,6311	GG,GA,AA		0.0116,4.3804,1.4916	benign,benign,benign	542/740,486/684,486/684	114181773	194,12812	2203	4300	6503	SO:0001583	missense	51703	exon16			TACTTTACAGTGA	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1456A>G	10.37:g.114181773A>G	ENSP00000376796:p.Thr486Ala	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	70	22	0.314286	NM_016234	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	25	0.011446886446886446	23	0.046747967479674794	2	0.0055248618784530384	0	0.0	0	0.0	A	2.991	-0.208102	0.06180	0.043804	1.16E-4	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.86	0.636	0.17729	AMP-dependent synthetase/ligase (1);	0.395320	0.28724	N	0.014342	T	0.00356	0.0011	N	0.00405	-1.535	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44283	-0.9338	10	0.02654	T	1	-2.9242	8.9257	0.35639	0.2131:0.0:0.462:0.3249	rs12254915;rs52833907;rs12254915	268;486;542;486	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	A	486;486;542;486;486;268	ENSP00000346680:T486A;ENSP00000376796:T486A;ENSP00000348429:T542A;ENSP00000403647:T486A;ENSP00000346223:T486A;ENSP00000358418:T268A	ENSP00000346223:T486A	T	+	1	0	ACSL5	114171763	0.994000	0.37717	0.677000	0.29947	0.906000	0.53458	1.059000	0.30517	-0.131000	0.11578	-0.270000	0.10280	ACA	A|0.982;G|0.018	0.018	strong		0.458	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		G	114181773	A	G	114181773	3	3	22	1	0	0	0	0	1	0	0	0	180	391	14	2	1686	2	ACSL5	10	114181773	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	246394	114181773	21352974	5745	10853										
NRAP	3026	hgsc.bcm.edu	37	chr10	115348749	115348751	+	3'UTR	DEL	CTT	CTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggctcacaacagcagggcCttcttctttttgacgtgcag					rs141729427|rs148467563|rs200486696|rs11575787|rs144589482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115348749_115348751delCTT	ENST00000351270.3	+	0	2400_2402				HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000369360.3_In_Frame_Del_p.K1699del|NRAP_ENST00000369358.4_In_Frame_Del_p.K1734del|NRAP_ENST00000359988.3_In_Frame_Del_p.K1726del|NRAP_ENST00000360478.3_In_Frame_Del_p.K1691del	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ACAGCAGGGCCTTCTTCTTTTTG	0.537														34	0.00678914	0.025	0.0014	5008	,	,		16073	0.0		0.0	False		,,,				2504	0.0				p.1727_1728del		Pindel,Atlas-Indel	.											.	NRAP	208	.	0			c.5180_5182del						PASS	.		,,,	162,4102		7,148,1977					,,,	3.8	1		dbSNP_120	163	28,8226		11,6,4110	no	coding,coding,utr-3,utr-3	HABP2,NRAP	NM_198060.2,NM_006175.3,NM_004132.3,NM_001177660.1	,,,	18,154,6087	A1A1,A1R,RR		0.3392,3.7992,1.5178	,,,	,,,		190,12328				SO:0001624	3_prime_UTR_variant	4892	exon42			.		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*623CTT>-	10.37:g.115348755_115348757delCTT		Somatic	144	.	.		WXS	Illumina HiSeq	Phase_I	187	61	0.326	NM_001261463	A8K467|B7Z8U5|F5H5M6|O00663	In_Frame_Del	DEL	ENST00000351270.3	37	CCDS7577.1																																																																																			CTT|0.992;-|0.008	0.008	strong		0.537	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		-	115348751	CTT	-	115348749	6	5	22	0	1	1	0	1	0	0	0	0	10638	680	24	0		0	NRAP	10	115348749	3'UTR	DEL	CTT	TCGA-G8-6324-01A-11D-2210-10	1166976	115348749	20185998	5746	10854										
NRAP	4892	hgsc.bcm.edu	37	chr10	115375528	115375528	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcagggaggtcagcagtCggtgtgtaatgatgctttat	13	6	2	1	rs11196397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115375528C>A	ENST00000359988.3	-	27	3265	c.3021G>T	c.(3019-3021)ccG>ccT	p.P1007P	NRAP_ENST00000369360.3_Silent_p.P980P|NRAP_ENST00000369358.4_Silent_p.P1015P|NRAP_ENST00000360478.3_Silent_p.P972P	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.P1007P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTCAGCAGTCGGTGTGTAAT	0.498													C|||	1140	0.227636	0.0802	0.2507	5008	,	,		20885	0.3958		0.2783	False		,,,				2504	0.1851				p.P1007P		Atlas-SNP	.											NRAP,NS,carcinoma,0,1	NRAP	208	1	1	Substitution - coding silent(1)	stomach(1)	c.G3021T						PASS	.	C	,	450,3956	217.4+/-235.8	30,390,1783	386	288	321		2916,3021	1.9	0.6	10	dbSNP_120	321	2318,6282	389.1+/-342.8	312,1694,2294	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	342,2084,4077	AA,AC,CC		26.9535,10.2133,21.2825	,	972/1696,1007/1731	115375528	2768,10238	2203	4300	6503	SO:0001819	synonymous_variant	4892	exon27			AGCAGTCGGTGTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3021G>T	10.37:g.115375528C>A		Somatic	449	0	0		WXS	Illumina HiSeq	Phase_I	444	221	0.497748	NM_001261463		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																			C|0.772;A|0.228	0.228	strong		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115375528	C	A	115375528	2	1	22	1	0	0	0	0	0	0	0	1	10638	871	31	4		4	NRAP	10	115375528	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26779	115375528	20159219	5747	10855										
NRAP	4892	hgsc.bcm.edu	37	chr10	115392919	115392919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaatgtgtaattcaacttaTttttctcatagtcagcacgg	7	8	3	0	rs2270182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115392919T>A	ENST00000359988.3	-	16	1800	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I	NRAP_ENST00000360478.3_Missense_Mutation_p.N484I|NRAP_ENST00000369360.3_Missense_Mutation_p.N484I|NRAP_ENST00000369358.4_Missense_Mutation_p.N519I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTCAACTTATTTTTCTCATA	0.423													T|||	1296	0.258786	0.3336	0.2248	5008	,	,		19373	0.1915		0.2714	False		,,,				2504	0.2382				p.N519I		Atlas-SNP	.											.	NRAP	208	.	0			c.A1556T						PASS	.	T	ILE/ASN,ILE/ASN	1556,2850	488.5+/-361.2	276,1004,923	139	118	125		1451,1556	5.7	1	10	dbSNP_100	125	2383,6217	394.7+/-344.8	332,1719,2249	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	149,149	608,2723,3172	AA,AT,TT		27.7093,35.3155,30.286	benign,benign	484/1696,519/1731	115392919	3939,9067	2203	4300	6503	SO:0001583	missense	4892	exon16			AACTTATTTTTCT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1556A>T	10.37:g.115392919T>A	ENSP00000353078:p.Asn519Ile	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	204	103	0.504902	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	561	0.25686813186813184	152	0.3089430894308943	75	0.20718232044198895	117	0.20454545454545456	217	0.2862796833773087	T	17.26	3.344359	0.61073	0.353155	0.277093	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.67	5.67	0.87782	.	0.097718	0.64402	D	0.000002	T	0.00012	0.0000	N	0.17082	0.46	0.32215	P	0.576051	D;P;D	0.53151	0.958;0.889;0.958	P;P;P	0.55749	0.783;0.578;0.783	T	0.38542	-0.9656	9	0.37606	T	0.19	.	11.4347	0.50062	0.0:0.0:0.2723:0.7277	rs2270182;rs60908683;rs2270182	519;484;519	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	I	519;484;519;484;248;248	ENSP00000358365:N519I;ENSP00000358367:N484I;ENSP00000353078:N519I;ENSP00000353666:N484I	ENSP00000353078:N519I	N	-	2	0	NRAP	115382909	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	2.477000	0.45180	2.159000	0.67721	0.455000	0.32223	AAT	T|0.718;A|0.282	0.282	strong		0.423	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115392919	T	A	115392919	3	1	22	1	0	0	0	0	1	0	0	0	10638	1493	52	5	3744	5	NRAP	10	115392919	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17391	115392919	20141828	5748	10856										
NRAP	4892	hgsc.bcm.edu	37	chr10	115393929	115393929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtggggtgtcagtcaccGagctgtacttcaacttgtcg	12	10	4	0	rs3189030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115393929G>A	ENST00000359988.3	-	15	1713	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	NRAP_ENST00000369360.3_Missense_Mutation_p.S455L|NRAP_ENST00000369358.4_Missense_Mutation_p.S490L|NRAP_ENST00000360478.3_Missense_Mutation_p.S455L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCAGTCACCGAGCTGTACTT	0.453													G|||	1456	0.290735	0.1203	0.2781	5008	,	,		19322	0.4266		0.328	False		,,,				2504	0.3517				p.S490L		Atlas-SNP	.											NRAP,NS,adenoma,0,1	NRAP	208	1	0			c.C1469T						PASS	.	G	LEU/SER,LEU/SER	614,3792	269.2+/-268.9	52,510,1641	210	181	191		1364,1469	3.3	0.7	10	dbSNP_105	191	2652,5948	426.9+/-355.4	387,1878,2035	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	145,145	439,2388,3676	AA,AG,GG		30.8372,13.9355,25.1115	benign,benign	455/1696,490/1731	115393929	3266,9740	2203	4300	6503	SO:0001583	missense	4892	exon15			GTCACCGAGCTGT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1469C>T	10.37:g.115393929G>A	ENSP00000353078:p.Ser490Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	122	52	0.42623	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	654	0.29945054945054944	57	0.11585365853658537	113	0.31215469613259667	253	0.4423076923076923	231	0.30474934036939316	G	9.361	1.068063	0.20067	0.139355	0.308372	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.17854	2.48;2.45;2.33;2.25	5.17	3.28	0.37604	.	0.399627	0.28296	N	0.015870	T	0.00012	0.0000	M	0.65498	2.005	0.34483	P	0.295894	B;B	0.23316	0.083;0.05	B;B	0.17433	0.018;0.008	T	0.44097	-0.9350	9	0.29301	T	0.29	.	10.6605	0.45700	0.072:0.1322:0.7957:0.0	rs3189030;rs56518502;rs59496803;rs3189030	455;490	Q86VF7-4;Q86VF7	.;NRAP_HUMAN	L	490;455;490;455;219;219	ENSP00000358365:S490L;ENSP00000358367:S455L;ENSP00000353078:S490L;ENSP00000353666:S455L	ENSP00000353078:S490L	S	-	2	0	NRAP	115383919	1.000000	0.71417	0.668000	0.29813	0.069000	0.16628	2.948000	0.49066	0.542000	0.28846	-0.444000	0.05651	TCG	G|0.727;A|0.273	0.273	strong		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115393929	G	A	115393929	3	1	22	1	0	0	0	0	1	0	0	0	10638	1059	37	1	3835	1	NRAP	10	115393929	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1010	115393929	20140818	5749	10857										
NRAP	4892	hgsc.bcm.edu	37	chr10	115393948	115393948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagctgtacttcaacttgtCgatgctctgcctataattgg	9	10	2	0	rs11196400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115393948C>T	ENST00000359988.3	-	15	1694	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	NRAP_ENST00000369360.3_Missense_Mutation_p.D449N|NRAP_ENST00000369358.4_Missense_Mutation_p.D484N|NRAP_ENST00000360478.3_Missense_Mutation_p.D449N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAACTTGTCGATGCTCTGC	0.463													C|||	962	0.192093	0.3094	0.1124	5008	,	,		19731	0.1677		0.1382	False		,,,				2504	0.1708				p.D484N		Atlas-SNP	.											.	NRAP	208	.	0			c.G1450A						PASS	.	C	ASN/ASP,ASN/ASP	1305,3101	442.7+/-346.8	189,927,1087	190	163	173		1345,1450	4.3	0.8	10	dbSNP_120	173	1141,7459	234.7+/-267.5	81,979,3240	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	23,23	270,1906,4327	TT,TC,CC		13.2674,29.6187,18.8067	benign,benign	449/1696,484/1731	115393948	2446,10560	2203	4300	6503	SO:0001583	missense	4892	exon15			ACTTGTCGATGCT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1450G>A	10.37:g.115393948C>T	ENSP00000353078:p.Asp484Asn	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	116	67	0.577586	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	396	0.1813186813186813	139	0.28252032520325204	40	0.11049723756906077	99	0.17307692307692307	118	0.15567282321899736	C	17.16	3.317823	0.60524	0.296187	0.132674	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.19250	2.35;2.41;2.23;2.16	5.17	4.27	0.50696	.	0.050281	0.85682	D	0.000000	T	0.00012	0.0000	L	0.59436	1.845	0.23144	P	0.99822988	P;D;P	0.54047	0.94;0.964;0.94	B;P;B	0.45343	0.211;0.477;0.353	T	0.37079	-0.9721	9	0.54805	T	0.06	.	13.9788	0.64291	0.0:0.9269:0.0:0.0731	rs11196400;rs52831195;rs59150146;rs11196400	484;449;484	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	N	484;449;484;449;213;213	ENSP00000358365:D484N;ENSP00000358367:D449N;ENSP00000353078:D484N;ENSP00000353666:D449N	ENSP00000353078:D484N	D	-	1	0	NRAP	115383938	1.000000	0.71417	0.784000	0.31847	0.409000	0.31022	5.350000	0.66016	1.181000	0.42912	-0.362000	0.07510	GAC	C|0.811;T|0.189	0.189	strong		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115393948	C	T	115393948	3	4	22	1	0	0	0	0	1	0	0	0	10638	884	31	1	3854	1	NRAP	10	115393948	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	115393948	20140799	5750	10858										
NRAP	4892	hgsc.bcm.edu	37	chr10	115409840	115409840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgtcaagatgccctcagCtccaatggctggaccagcca	9	15	2	1	rs2275799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115409840C>T	ENST00000359988.3	-	9	1088	c.844G>A	c.(844-846)Gct>Act	p.A282T	NRAP_ENST00000360478.3_Missense_Mutation_p.A282T|NRAP_ENST00000369360.3_Missense_Mutation_p.A282T|NRAP_ENST00000369358.4_Missense_Mutation_p.A282T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGCCCTCAGCTCCAATGGCT	0.458													C|||	1341	0.267772	0.3419	0.2248	5008	,	,		18853	0.2173		0.2684	False		,,,				2504	0.2495				p.A282T		Atlas-SNP	.											.	NRAP	208	.	0			c.G844A						PASS	.	C	THR/ALA,THR/ALA	1595,2811	497.7+/-363.9	294,1007,902	184	168	174		844,844	5.2	1	10	dbSNP_100	174	2389,6211	397.6+/-345.8	334,1721,2245	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	58,58	628,2728,3147	TT,TC,CC		27.7791,36.2006,30.632	benign,benign	282/1696,282/1731	115409840	3984,9022	2203	4300	6503	SO:0001583	missense	4892	exon9			CCTCAGCTCCAAT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.844G>A	10.37:g.115409840C>T	ENSP00000353078:p.Ala282Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	120	68	0.566667	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	584	0.2673992673992674	159	0.3231707317073171	75	0.20718232044198895	134	0.23426573426573427	216	0.2849604221635884	C	9.493	1.101124	0.20552	0.362006	0.277791	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.16743	2.51;2.54;2.44;2.32	6.06	5.15	0.70609	.	0.150870	0.64402	D	0.000011	T	0.00012	0.0000	N	0.14661	0.345	0.35895	P	0.17004300000000006	B;B;B	0.27656	0.184;0.036;0.038	B;B;B	0.27262	0.078;0.06;0.02	T	0.49341	-0.8950	9	0.19590	T	0.45	.	10.3614	0.43996	0.0:0.8583:0.0:0.1417	rs2275799;rs52833940;rs60271628;rs2275799	282;282;282	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	T	282;282;282;282;11;11	ENSP00000358365:A282T;ENSP00000358367:A282T;ENSP00000353078:A282T;ENSP00000353666:A282T	ENSP00000353078:A282T	A	-	1	0	NRAP	115399830	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	1.080000	0.30779	2.876000	0.98609	0.655000	0.94253	GCT	C|0.708;T|0.292	0.292	strong		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115409840	C	T	115409840	3	4	22	1	0	0	0	0	1	0	0	0	10638	797	28	2	4484	2	NRAP	10	115409840	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15892	115409840	20124907	5751	10859										
NRAP	4892	hgsc.bcm.edu	37	chr10	115411598	115411598	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccagccttgctccgtagCagctcaggagtatccaccac	9	17	1	0	rs4918861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115411598C>A	ENST00000359988.3	-	7	883	c.639G>T	c.(637-639)ctG>ctT	p.L213L	NRAP_ENST00000369360.3_Silent_p.L213L|NRAP_ENST00000369358.4_Silent_p.L213L|NRAP_ENST00000360478.3_Silent_p.L213L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCGTAGCAGCTCAGGAG	0.522													C|||	1325	0.264577	0.3306	0.2248	5008	,	,		20859	0.2163		0.2684	False		,,,				2504	0.2495				p.L213L		Atlas-SNP	.											.	NRAP	208	.	0			c.G639T						PASS	.	C	,	1511,2895	482.8+/-359.5	263,985,955	105	81	89		639,639	2.9	1	10	dbSNP_111	89	2389,6211	397.4+/-345.7	335,1719,2246	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	598,2704,3201	AA,AC,CC		27.7791,34.2941,29.9862	,	213/1696,213/1731	115411598	3900,9106	2203	4300	6503	SO:0001819	synonymous_variant	4892	exon7			CCGTAGCAGCTCA		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.639G>T	10.37:g.115411598C>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_001261463		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																			C|0.712;A|0.288	0.288	strong		0.522	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115411598	C	A	115411598	2	1	22	1	0	0	0	0	0	0	0	1	10638	697	25	4		4	NRAP	10	115411598	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1758	115411598	20123149	5752	10860										
NRAP	4892	hgsc.bcm.edu	37	chr10	115412793	115412793	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttgctcatagtcttctgtAtattcctgttggtcagaacc	9	9	4	1	rs3737322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115412793A>G	ENST00000359988.3	-	6	715	c.471T>C	c.(469-471)taT>taC	p.Y157Y	NRAP_ENST00000369360.3_Silent_p.Y157Y|NRAP_ENST00000369358.4_Silent_p.Y157Y|NRAP_ENST00000360478.3_Silent_p.Y157Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGTCTTCTGTATATTCCTGTT	0.443													A|||	1543	0.308107	0.4887	0.2378	5008	,	,		16745	0.2173		0.2664	False		,,,				2504	0.2505				p.Y157Y		Atlas-SNP	.											.	NRAP	208	.	0			c.T471C						PASS	.	A	,	1969,2435		499,971,732	157	139	145		471,471	-1.3	0.2	10	dbSNP_107	145	2390,6210		336,1718,2246	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	835,2689,2978	GG,GA,AA		27.7907,44.7094,33.5205	,	157/1696,157/1731	115412793	4359,8645	2202	4300	6502	SO:0001819	synonymous_variant	4892	exon6			TTCTGTATATTCC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.471T>C	10.37:g.115412793A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	126	54	0.428571	NM_001261463		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																			A|0.676;G|0.324	0.324	strong		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		G	115412793	A	G	115412793	2	3	22	1	0	0	0	0	0	0	0	1	10638	456	16	2		2	NRAP	10	115412793	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1195	115412793	20121954	5753	10861										
C10orf81	79949	hgsc.bcm.edu	37	chr10	115531790	115531790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacaagatttatcagaagCcactcaagatgtgaaggaag	9	8	2	4	rs143039412		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115531790C>T	ENST00000369310.3	+	7	1158	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.A205V|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.A117V|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.A19V	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	199																	TTATCAGAAGCCACTCAAGAT	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21165	0.0		0.0	False		,,,				2504	0.0				p.A205V		Atlas-SNP	.											.	PLEKHS1	19	.	0			c.C614T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	3,4403	4.2+/-10.8	0,3,2200	147	137	140		350,350,614,596	2.6	0	10	dbSNP_134	140	0,8600		0,0,4300	no	missense,missense,missense,missense	C10orf81	NM_001193434.1,NM_001193435.1,NM_024889.4,NM_182601.1	64,64,64,64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign,benign,benign	117/367,117/367,205/364,199/466	115531790	3,13003	2203	4300	6503	SO:0001583	missense	79949	exon8			CAGAAGCCACTCA	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.596C>T	10.37:g.115531790C>T	ENSP00000358316:p.Ala199Val	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	126	56	0.444444	NM_024889	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843362	0.32606	6.81E-4	0.0	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.63	2.59	0.31030	.	1.116260	0.06460	N	0.729232	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	B;B;B;B	0.31077	0.307;0.009;0.049;0.043	B;B;B;B	0.23419	0.046;0.005;0.019;0.03	T	0.17198	-1.0377	10	0.36615	T	0.2	-21.7194	3.245	0.06794	0.1867:0.5589:0.1595:0.095	.	199;199;199;205	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	V	205;117;199;19	ENSP00000354332:A205V;ENSP00000358318:A117V;ENSP00000358316:A199V;ENSP00000358315:A19V	ENSP00000354332:A205V	A	+	2	0	C10orf81	115521780	0.002000	0.14202	0.002000	0.10522	0.072000	0.16883	0.513000	0.22770	1.390000	0.46547	0.650000	0.86243	GCC	C|1.000;T|0.000	0.000	weak		0.353	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		T	115531790	C	T	115531790	3	4	22	1	0	0	0	0	1	0	0	0	1619	739	26	2	640	2	C10orf81	10	115531790	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118997	115531790	20002957	5754	10862										
ADRB1	153	hgsc.bcm.edu	37	chr10	115804123	115804123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcgtggcgggcaatgtgCtggtgatcgtggccatcgcc	15	11	1	1	rs373125312		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115804123C>T	ENST00000369295.2	+	1	318	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	78					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GGGCAATGTGCTGGTGATCGT	0.657																																					p.L78L		Atlas-SNP	.											.	ADRB1	16	.	0			c.C232T						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	43	39	40		232	2.1	1	10		40	0,8600		0,0,4300	no	coding-synonymous	ADRB1	NM_000684.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		78/478	115804123	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153	exon1			AATGTGCTGGTGA	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.232C>T	10.37:g.115804123C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_000684	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	CCDS7586.1																																																																																			.	.	none		0.657	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			T	115804123	C	T	115804123	2	4	22	1	0	0	0	0	0	0	0	1	340	796	28	2		2	ADRB1	10	115804123	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	272333	115804123	19730624	5755	10863										
ADRB1	153	hgsc.bcm.edu	37	chr10	115804206	115804206	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctggccagcgccgacctGgtcatggggctgctggtggt	16	13	1	0	rs7921133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115804206G>T	ENST00000369295.2	+	1	401	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	105					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCGCCGACCTGGTCATGGGGC	0.662													G|||	144	0.028754	0.1044	0.0086	5008	,	,		15320	0.0		0.0	False		,,,				2504	0.0				p.L105L		Atlas-SNP	.											.	ADRB1	16	.	0			c.G315T						PASS	.	G		447,3959	205.8+/-227.6	24,399,1780	57	67	63		315	4.1	1	10	dbSNP_116	63	8,8590	6.4+/-24.3	0,8,4291	no	coding-synonymous	ADRB1	NM_000684.2		24,407,6071	TT,TG,GG		0.093,10.1453,3.4989		105/478	115804206	455,12549	2203	4299	6502	SO:0001819	synonymous_variant	153	exon1			CGACCTGGTCATG	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.315G>T	10.37:g.115804206G>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	116	52	0.448276	NM_000684	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	CCDS7586.1																																																																																			G|0.963;T|0.037	0.037	strong		0.662	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			T	115804206	G	T	115804206	2	4	22	1	0	0	0	0	0	0	0	1	340	1335	47	4		4	ADRB1	10	115804206	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83	115804206	19730541	5756	10864										
ADRB1	153	hgsc.bcm.edu	37	chr10	115805057	115805057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccgcaaggccttccaggGactgctctgctgcgcgcgca	12	16	1	0	rs17875445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115805057G>T	ENST00000369295.2	+	1	1252	c.1166G>T	c.(1165-1167)gGa>gTa	p.G389V		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	389			R -> G (reduced binding to G proteins; dbSNP:rs1801253). {ECO:0000269|PubMed:10212248, ECO:0000269|PubMed:10477438, ECO:0000269|PubMed:15164054, ECO:0000269|Ref.3}.|R -> L. {ECO:0000269|Ref.3}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCCTTCCAGGGACTGCTCTGC	0.721													G|||	27	0.00539137	0.0197	0.0014	5008	,	,		5822	0.0		0.0	False		,,,				2504	0.0				p.G389V		Atlas-SNP	.											.	ADRB1	16	.	0			c.G1166T						PASS	.	G	VAL/GLY	35,4029		0,35,1997	15	13	13		1166	1.7	1	10	dbSNP_124	13	0,7986		0,0,3993	no	missense	ADRB1	NM_000684.2	109	0,35,5990	TT,TG,GG		0.0,0.8612,0.2905		389/478	115805057	35,12015	2032	3993	6025	SO:0001583	missense	153	exon1			TCCAGGGACTGCT	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1166G>T	10.37:g.115805057G>T	ENSP00000358301:p.Gly389Val	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_000684	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	CCDS7586.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	G	8.144	0.785930	0.16189	0.008612	0.0	ENSG00000043591	ENST00000369295	T	0.37235	1.21	3.81	1.72	0.24424	.	0.000000	0.85682	U	0.000000	T	0.26484	0.0647	M	0.64404	1.975	0.36477	D	0.867582	.	.	.	.	.	.	T	0.37079	-0.9721	8	0.62326	D	0.03	.	7.2309	0.26043	0.3079:0.0:0.6921:0.0	rs17875445	.	.	.	V	389	ENSP00000358301:G389V	ENSP00000358301:G389V	G	+	2	0	ADRB1	115795047	1.000000	0.71417	0.998000	0.56505	0.291000	0.27294	3.494000	0.53273	0.129000	0.18514	0.484000	0.47621	GGA	G|0.994;T|0.006	0.006	strong		0.721	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			T	115805057	G	T	115805057	3	4	22	1	0	0	0	0	1	0	0	0	340	1174	41	4	1168	4	ADRB1	10	115805057	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	851	115805057	19729690	5757	10865										
C10orf118	55088	hgsc.bcm.edu	37	chr10	115887340	115887340	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctcaatcaacatggccTtatctacttgtggaaagtta	6	9	4	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115887340T>A	ENST00000369287.3	-	14	2539	c.2273A>T	c.(2272-2274)aAg>aTg	p.K758M	C10orf118_ENST00000543782.1_Missense_Mutation_p.K356M|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		758										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CAACATGGCCTTATCTACTTG	0.433																																					p.K758M		Atlas-SNP	.											C10orf118,NS,malignant_melanoma,0,1	C10orf118	70	1	0			c.A2273T						scavenged	.						139	125	130					10																	115887340		2203	4300	6503	SO:0001583	missense	55088	exon14			ATGGCCTTATCTA																												ENST00000369287.3:c.2273A>T	10.37:g.115887340T>A	ENSP00000358293:p.Lys758Met	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	139	3	0.0215827	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.378994|4.378994	0.82682|0.82682	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T|.	0.27890|.	1.64|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74137|.	0.3677|.	M|M	0.79258|0.79258	2.445|2.445	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|.	0.75811|.	-0.3186|.	10|.	0.62326|.	D|.	0.03|.	.|.	13.1396|13.1396	0.59428|0.59428	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	356;758|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	M|Y	758;356;864|386	ENSP00000358293:K758M|.	ENSP00000358293:K758M|.	K|X	-|-	2|3	0|2	C10orf118|C10orf118	115877330|115877330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.008000|8.008000	0.88588|0.88588	1.826000|1.826000	0.53198|0.53198	0.449000|0.449000	0.29647|0.29647	AAG|TAA	.	.	none		0.433	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			A	115887340	T	A	115887340	3	1	22	1	0	0	0	0	1	0	0	0	1587	1609	56	5	435	5	C10orf118	10	115887340	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82283	115887340	19647407	5758	10866										
C10orf118	55088	hgsc.bcm.edu	37	chr10	115910928	115910928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgtcttgagctattagttGatctctggaagctttaactt	8	7	2	2	rs7095762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115910928G>T	ENST00000369287.3	-	4	1077	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		271			Q -> K (in dbSNP:rs7095762). {ECO:0000269|PubMed:14996095, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GCTATTAGTTGATCTCTGGAA	0.328													T|||	1038	0.207268	0.3434	0.2349	5008	,	,		16833	0.0585		0.2505	False		,,,				2504	0.1125				p.Q271K		Atlas-SNP	.											.	C10orf118	70	.	0			c.C811A						PASS	.	T	LYS/GLN	1397,3009	686.3+/-404.7	210,977,1016	198	173	181		811	4.8	1	10	dbSNP_116	181	2021,6579	720.7+/-406.3	246,1529,2525	yes	missense	C10orf118	NM_018017.2	53	456,2506,3541	TT,TG,GG		23.5,31.7068,26.2802	benign	271/899	115910928	3418,9588	2203	4300	6503	SO:0001583	missense	55088	exon4			TTAGTTGATCTCT																												ENST00000369287.3:c.811C>A	10.37:g.115910928G>T	ENSP00000358293:p.Gln271Lys	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	175	64	0.365714	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	459	0.21016483516483517	152	0.3089430894308943	92	0.2541436464088398	34	0.05944055944055944	181	0.23878627968337732	T	0.970	-0.700333	0.03279	0.317068	0.235	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.35605	1.3	5.94	4.8	0.61643	.	0.096473	0.64402	N	0.000001	T	0.00012	0.0000	N	0.02802	-0.49	0.09310	P	0.9999999999999921	B	0.02656	0.0	B	0.01281	0.0	T	0.37009	-0.9724	9	0.02654	T	1	.	11.9902	0.53171	0.0:0.0:0.2861:0.7139	rs7095762;rs52832101;rs57533496;rs7095762	271	Q7Z3E2	CJ118_HUMAN	K	271;377	ENSP00000358293:Q271K	ENSP00000358293:Q271K	Q	-	1	0	C10orf118	115900918	1.000000	0.71417	0.984000	0.44739	0.247000	0.25773	4.641000	0.61375	0.496000	0.27904	-0.270000	0.10280	CAA	G|0.758;T|0.242	0.242	strong		0.328	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			T	115910928	G	T	115910928	3	4	22	1	0	0	0	0	1	0	0	0	1587	1299	45	4	1937	4	C10orf118	10	115910928	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23588	115910928	19623819	5759	10867										
C10orf118	55088	hgsc.bcm.edu	37	chr10	115922774	115922774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcagaattttctgagcctGtgtctgttttggcacaagaa	10	7	3	3	rs1061159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:115922774G>A	ENST00000369287.3	-	2	520	c.254C>T	c.(253-255)aCa>aTa	p.T85I	C10orf118_ENST00000369285.3_Missense_Mutation_p.T85I|C10orf118_ENST00000369286.1_Missense_Mutation_p.T85I	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		85			T -> I (in dbSNP:rs1061159). {ECO:0000269|PubMed:14996095, ECO:0000269|PubMed:15489334}.							NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCTGAGCCTGTGTCTGTTTT	0.333													A|||	1038	0.207268	0.3434	0.2349	5008	,	,		19563	0.0585		0.2505	False		,,,				2504	0.1125				p.T85I		Atlas-SNP	.											.	C10orf118	70	.	0			c.C254T						PASS	.	A	ILE/THR	1395,3011	680.6+/-403.9	208,979,1016	84	87	86		254	-9.5	0.1	10	dbSNP_86	86	2024,6576	719.2+/-406.3	246,1532,2522	yes	missense	C10orf118	NM_018017.2	89	454,2511,3538	AA,AG,GG		23.5349,31.6614,26.2879	benign	85/899	115922774	3419,9587	2203	4300	6503	SO:0001583	missense	55088	exon2			GAGCCTGTGTCTG																												ENST00000369287.3:c.254C>T	10.37:g.115922774G>A	ENSP00000358293:p.Thr85Ile	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	176	87	0.494318	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	459	0.21016483516483517	152	0.3089430894308943	92	0.2541436464088398	34	0.05944055944055944	181	0.23878627968337732	A	0.074	-1.196215	0.01594	0.316614	0.235349	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.32753	1.87;1.44;1.44	5.65	-9.53	0.00575	.	1.254280	0.05071	N	0.481642	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	9	0.20519	T	0.43	.	19.1548	0.93506	0.1006:0.1643:0.7351:0.0	rs1061159;rs3167863;rs52837087;rs60892464;rs1061159	85	Q7Z3E2	CJ118_HUMAN	I	85;191;85;85	ENSP00000358293:T85I;ENSP00000358292:T85I;ENSP00000358291:T85I	ENSP00000358291:T85I	T	-	2	0	C10orf118	115912764	0.000000	0.05858	0.051000	0.19133	0.029000	0.11900	-0.821000	0.04452	-1.547000	0.01715	-1.781000	0.00649	ACA	G|0.762;N|0.000	.	strong		0.333	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			A	115922774	G	A	115922774	3	1	22	1	0	0	0	0	1	0	0	0	1587	1377	48	2	2502	2	C10orf118	10	115922774	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11846	115922774	19611973	5760	10868										
VWA2	340706	hgsc.bcm.edu	37	chr10	116008497	116008497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctttcctgttgctggaaGccgtctgtgttttcctgttt	9	12	1	0	rs9664945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116008497G>A	ENST00000392982.3	+	2	275	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	VWA2_ENST00000603594.1_Missense_Mutation_p.A9T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	9			A -> T (in dbSNP:rs9664945). {ECO:0000269|PubMed:14506275, ECO:0000269|PubMed:14702039}.		calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTTGCTGGAAGCCGTCTGTGT	0.468													A|||	1018	0.203275	0.3396	0.2176	5008	,	,		19544	0.0605		0.2515	False		,,,				2504	0.1063				p.A9T		Atlas-SNP	.											.	VWA2	64	.	0			c.G25A						PASS	.	A	THR/ALA	1361,3045	691.9+/-405.5	202,957,1044	271	231	245		25	3.1	0.3	10	dbSNP_119	245	2043,6557	720.2+/-406.3	251,1541,2508	yes	missense	VWA2	NM_198496.1	58	453,2498,3552	AA,AG,GG		23.7558,30.8897,26.1725	benign	9/726	116008497	3404,9602	2203	4300	6503	SO:0001583	missense	340706	exon2			CTGGAAGCCGTCT	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.25G>A	10.37:g.116008497G>A	ENSP00000376708:p.Ala9Thr	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	248	143	0.576613	NM_001272046	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		444	0.2032967032967033	138	0.2804878048780488	88	0.2430939226519337	35	0.06118881118881119	183	0.24142480211081793	A	3.769	-0.047993	0.07407	0.308897	0.237558	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.69306	-0.39	4.98	3.07	0.35406	.	0.802559	0.11330	N	0.575165	T	0.00012	0.0000	L	0.46157	1.445	0.58432	P	5.999999999950489E-6	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.16541	-1.0399	9	0.15066	T	0.55	.	7.1349	0.25523	0.178:0.0:0.6789:0.1431	rs9664945;rs52800746;rs59454685;rs9664945	9;9	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	T	9	ENSP00000376708:A9T	ENSP00000298715:A9T	A	+	1	0	VWA2	115998487	0.252000	0.23972	0.350000	0.25708	0.270000	0.26580	0.762000	0.26503	0.600000	0.29862	-1.014000	0.02459	GCC	G|0.764;A|0.236	0.236	strong		0.468	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		A	116008497	G	A	116008497	3	1	22	1	0	0	0	0	1	0	0	0	17236	971	34	2	27	2	VWA2	10	116008497	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85723	116008497	19526250	5761	10869										
VWA2	340706	hgsc.bcm.edu	37	chr10	116032519	116032519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagggcgcacggagacggAacttgctctgaaataccttc	13	10	1	2	rs597371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116032519A>G	ENST00000392982.3	+	6	642	c.392A>G	c.(391-393)gAa>gGa	p.E131G	VWA2_ENST00000603594.1_Missense_Mutation_p.E131G			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	131	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.		E -> G (in dbSNP:rs597371). {ECO:0000269|PubMed:14702039}.		calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACGGAGACGGAACTTGCTCTG	0.517													G|||	2790	0.557109	0.8782	0.4741	5008	,	,		21147	0.3373		0.4324	False		,,,				2504	0.5368				p.E131G		Atlas-SNP	.											.	VWA2	64	.	0			c.A392G						PASS	.	G	GLY/GLU	3526,880	342.0+/-307.0	1402,722,79	108	109	109		392	4.3	0.5	10	dbSNP_83	109	3700,4900	620.6+/-397.1	802,2096,1402	yes	missense	VWA2	NM_198496.1	98	2204,2818,1481	GG,GA,AA		43.0233,19.9728,44.441	benign	131/726	116032519	7226,5780	2203	4300	6503	SO:0001583	missense	340706	exon6			AGACGGAACTTGC	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.392A>G	10.37:g.116032519A>G	ENSP00000376708:p.Glu131Gly	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_001272046	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		1102	0.5045787545787546	423	0.8597560975609756	166	0.4585635359116022	195	0.3409090909090909	318	0.41952506596306066	G	1.007	-0.689115	0.03328	0.800272	0.430233	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.80033	-1.33	5.2	4.28	0.50868	von Willebrand factor, type A (3);	0.120923	0.56097	N	0.000030	T	0.00012	0.0000	N	0.00000	-4.035	0.39718	P	0.02856599999999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48525	-0.9028	9	0.02654	T	1	.	9.0543	0.36397	0.079:0.1468:0.7743:0.0	rs597371;rs59737203;rs597371	131;131	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	G	131	ENSP00000376708:E131G	ENSP00000298715:E131G	E	+	2	0	VWA2	116022509	1.000000	0.71417	0.454000	0.27019	0.223000	0.24884	5.047000	0.64232	0.556000	0.29098	-0.119000	0.15052	GAA	A|0.454;G|0.546	0.546	strong		0.517	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		G	116032519	A	G	116032519	3	3	22	1	0	0	0	0	1	0	0	0	17236	246	9	2	410	2	VWA2	10	116032519	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24022	116032519	19502228	5762	10870										
VWA2	340706	hgsc.bcm.edu	37	chr10	116049199	116049199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatccacgtggcagcttaCgccgacctgcggtaccacca	10	16	0	1	rs148020287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116049199C>T	ENST00000392982.3	+	12	2323	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y	VWA2_ENST00000603594.1_Silent_p.Y691Y			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	691	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGGCAGCTTACGCCGACCTGC	0.642													C|||	29	0.00579073	0.0212	0.0014	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0				p.Y691Y		Atlas-SNP	.											VWA2,caecum,carcinoma,0,1	VWA2	64	1	0			c.C2073T						PASS	.	C		62,4344	58.7+/-95.3	0,62,2141	126	100	109		2073	-0.5	0.1	10	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	VWA2	NM_198496.1		0,62,6441	TT,TC,CC		0.0,1.4072,0.4767		691/726	116049199	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	340706	exon12			AGCTTACGCCGAC	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.2073C>T	10.37:g.116049199C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	162	93	0.574074	NM_001272046	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37																																																																																				C|0.994;T|0.006	0.006	strong		0.642	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		T	116049199	C	T	116049199	2	4	22	1	0	0	0	0	0	0	0	1	17236	547	19	1		1	VWA2	10	116049199	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16680	116049199	19485548	5763	10871										
AFAP1L2	84632	hgsc.bcm.edu	37	chr10	116056779	116056779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgcctgtgaccacgacCgagagaggcctgttcttgag	12	12	1	3	rs62641713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116056779C>T	ENST00000304129.4	-	18	2417	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	AFAP1L2_ENST00000369271.3_Silent_p.S792S|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.S849S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGACCACGACCGAGAGAGGCC	0.567													C|||	206	0.0411342	0.1467	0.0115	5008	,	,		19382	0.001		0.003	False		,,,				2504	0.0				p.S796S		Atlas-SNP	.											.	AFAP1L2	90	.	0			c.G2388A						PASS	.	C	,	664,3742	280.8+/-275.6	62,540,1601	180	157	164		2388,2376	-10.9	0.1	10	dbSNP_129	164	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous	AFAP1L2	NM_001001936.1,NM_032550.2	,	62,547,5894	TT,TC,CC		0.0814,15.0704,5.1592	,	796/819,792/815	116056779	671,12335	2203	4300	6503	SO:0001819	synonymous_variant	84632	exon18			CACGACCGAGAGA	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.2388G>A	10.37:g.116056779C>T		Somatic	297	1	0.003367		WXS	Illumina HiSeq	Phase_I	337	337	1	NM_001001936	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	CCDS31286.1																																																																																			C|0.953;T|0.047	0.047	strong		0.567	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		T	116056779	C	T	116056779	2	4	22	1	0	0	0	0	0	0	0	1	355	639	23	1		1	AFAP1L2	10	116056779	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7580	116056779	19477968	5764	10872										
AFAP1L2	84632	hgsc.bcm.edu	37	chr10	116064528	116064528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgcggaaggagtagaGgtggtcggggctggggtctg	23	4	1	1	rs73365341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116064528G>A	ENST00000304129.4	-	11	1263	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.L465F|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.L412F			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	412	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AAGGAGTAGAGGTGGTCGGGG	0.682													G|||	531	0.10603	0.354	0.0375	5008	,	,		12908	0.0		0.0199	False		,,,				2504	0.0174				p.L412F		Atlas-SNP	.											.	AFAP1L2	90	.	0			c.C1234T						PASS	.	G	PHE/LEU,PHE/LEU	1464,2940	461.5+/-352.9	257,950,995	39	38	38		1234,1234	5.3	1	10	dbSNP_130	38	165,8435	76.3+/-139.0	3,159,4138	yes	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	22,22	260,1109,5133	AA,AG,GG		1.9186,33.2425,12.5269	probably-damaging,probably-damaging	412/819,412/815	116064528	1629,11375	2202	4300	6502	SO:0001583	missense	84632	exon11			AGTAGAGGTGGTC	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1234C>T	10.37:g.116064528G>A	ENSP00000303042:p.Leu412Phe	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_032550	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	224	0.10256410256410256	195	0.39634146341463417	15	0.04143646408839779	0	0.0	14	0.018469656992084433	G	26.3	4.722438	0.89298	0.332425	0.019186	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.75589	-0.95;-0.95;-0.95	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.62723	1.935	0.09310	P	0.999999814385	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.984;0.998;1.0	T	0.02104	-1.1213	9	0.45353	T	0.12	-16.927	18.9486	0.92632	0.0:0.0:1.0:0.0	.	465;466;440;412;412	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	F	412;412;439;465	ENSP00000358276:L412F;ENSP00000303042:L412F;ENSP00000444511:L465F	ENSP00000303042:L412F	L	-	1	0	AFAP1L2	116054518	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.973000	0.88032	2.470000	0.83445	0.563000	0.77884	CTC	G|0.884;A|0.116	0.116	strong		0.682	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		A	116064528	G	A	116064528	3	1	22	1	0	0	0	0	1	0	0	0	355	1000	35	2	1258	2	AFAP1L2	10	116064528	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7749	116064528	19470219	5765	10873										
ABLIM1	3983	hgsc.bcm.edu	37	chr10	116203801	116203801	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttacctgagttgatgggAgaatcgtagcgactggctaa	13	7	0	3	rs74158004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116203801A>C	ENST00000277895.5	-	17	2017	c.1920T>G	c.(1918-1920)tcT>tcG	p.S640S	ABLIM1_ENST00000369253.2_Silent_p.S263S|ABLIM1_ENST00000369266.3_Silent_p.S317S|ABLIM1_ENST00000533213.2_Silent_p.S580S|ABLIM1_ENST00000392952.3_Silent_p.S317S|ABLIM1_ENST00000369252.4_Silent_p.S580S	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	640					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)		AGTTGATGGGAGAATCGTAGC	0.512													C|||	165	0.0329473	0.1233	0.0029	5008	,	,		16633	0.0		0.0	False		,,,				2504	0.0				p.S640S		Atlas-SNP	.											.	ABLIM1	131	.	0			c.T1920G						PASS	.	C	,,,	418,3988	788.2+/-414.9	31,356,1816	185	183	184		1740,1824,1920,951	-1.1	1	10	dbSNP_130	184	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	,,,	31,358,6114	CC,CA,AA		0.0233,9.4871,3.2293	,,,	580/719,608/747,640/779,317/456	116203801	420,12586	2203	4300	6503	SO:0001819	synonymous_variant	3983	exon17			GATGGGAGAATCG	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.1920T>G	10.37:g.116203801A>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	57	0.459677	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	57	0.0260989010989011	56	0.11382113821138211	1	0.0027624309392265192	0	0.0	0	0.0	C	7.510	0.654490	0.14580	0.094871	2.33E-4	ENSG00000099204	ENST00000392955	.	.	.	5.79	-1.12	0.09808	.	.	.	.	.	T	0.00967	0.0032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04268	-1.0964	4	.	.	.	.	3.7237	0.08466	0.5347:0.1057:0.0608:0.2988	.	.	.	.	R	514	.	.	L	-	2	0	ABLIM1	116193791	0.990000	0.36364	0.988000	0.46212	0.621000	0.37620	0.259000	0.18405	-0.380000	0.07894	-2.704000	0.00135	CTC	A|0.963;C|0.037	0.037	strong		0.512	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			C	116203801	A	C	116203801	2	2	22	1	0	0	0	0	0	0	0	1	94	291	11	5		5	ABLIM1	10	116203801	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	139273	116203801	19330946	5766	10874										
ABLIM1	3983	hgsc.bcm.edu	37	chr10	116335246	116335246	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaccacttcgccctccacGaactccccacagccatggca	6	20	1	0	rs985273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:116335246G>A	ENST00000277895.5	-	3	589	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ABLIM1_ENST00000369252.4_Silent_p.F104F|ABLIM1_ENST00000533213.2_Silent_p.F104F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	164	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)	p.F104F(1)		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)		CGCCCTCCACGAACTCCCCAC	0.537													G|||	1525	0.304513	0.475	0.3602	5008	,	,		19474	0.2321		0.2078	False		,,,				2504	0.2086				p.F164F		Atlas-SNP	.											ABLIM1,NS,carcinoma,0,1	ABLIM1	131	1	1	Substitution - coding silent(1)	stomach(1)	c.C492T						PASS	.	G	,,	1935,2471	549.1+/-377.7	436,1063,704	141	113	122		312,312,492	-3.2	1	10	dbSNP_86	122	1537,7063	289.4+/-299.3	147,1243,2910	no	coding-synonymous,coding-synonymous,coding-synonymous	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5	,,	583,2306,3614	AA,AG,GG		17.8721,43.9174,26.6954	,,	104/719,104/747,164/779	116335246	3472,9534	2203	4300	6503	SO:0001819	synonymous_variant	3983	exon3			CTCCACGAACTCC	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.492C>T	10.37:g.116335246G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1																																																																																			G|0.719;A|0.281	0.281	strong		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			A	116335246	G	A	116335246	2	1	22	1	0	0	0	0	0	0	0	1	94	1049	37	1		1	ABLIM1	10	116335246	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131445	116335246	19199501	5767	10875										
PNLIPRP3	119548	hgsc.bcm.edu	37	chr10	118187528	118187528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaaaaatcagcttagatgCttggaatttggattgttgca	9	4	1	1	rs10885929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:118187528C>T	ENST00000369230.3	+	1	150	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	2			L -> F (in dbSNP:rs10885929).		lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGCTTAGATGCTTGGAATTTG	0.284													C|||	219	0.04373	0.0484	0.1282	5008	,	,		15738	0.0298		0.0219	False		,,,				2504	0.0143				p.L2F		Atlas-SNP	.											.	PNLIPRP3	101	.	0			c.C4T						PASS	.	C	PHE/LEU	191,4215	119.6+/-157.3	3,185,2015	72	80	77		4	-1.3	1	10	dbSNP_120	77	204,8394	85.0+/-147.5	2,200,4097	yes	missense	PNLIPRP3	NM_001011709.2	22	5,385,6112	TT,TC,CC		2.3726,4.335,3.0375	benign	2/468	118187528	395,12609	2203	4299	6502	SO:0001583	missense	119548	exon1			TAGATGCTTGGAA	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.4C>T	10.37:g.118187528C>T	ENSP00000358232:p.Leu2Phe	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	160	73	0.45625	NM_001011709		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	112	0.05128205128205128	30	0.06097560975609756	48	0.13259668508287292	20	0.03496503496503497	14	0.018469656992084433	C	8.735	0.917534	0.17982	0.04335	0.023726	ENSG00000203837	ENST00000369230	D	0.87650	-2.28	5.32	-1.27	0.09347	.	0.534295	0.16670	N	0.204387	T	0.01905	0.0060	N	0.20574	0.59	0.47659	P	5.169999999999897E-4	B	0.18166	0.026	B	0.20767	0.031	T	0.18777	-1.0326	9	0.44086	T	0.13	.	3.3014	0.06984	0.287:0.2116:0.0:0.5013	rs10885929;rs10885929	2	Q17RR3	LIPR3_HUMAN	F	2	ENSP00000358232:L2F	ENSP00000358232:L2F	L	+	1	0	PNLIPRP3	118177518	0.984000	0.35163	0.963000	0.40424	0.921000	0.55340	-0.158000	0.10070	-0.490000	0.06707	-0.218000	0.12543	CTT	C|0.961;T|0.039	0.039	strong		0.284	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		T	118187528	C	T	118187528	3	4	22	1	0	0	0	0	1	0	0	0	12152	797	28	2	6	2	PNLIPRP3	10	118187528	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1852282	118187528	17347219	5768	10876										
KCNK18	338567	hgsc.bcm.edu	37	chr10	118969353	118969353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtttgagagatctcatgCgctagagaaacagaacacac	10	9	1	4	rs363360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:118969353C>T	ENST00000334549.1	+	3	698	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	233			A -> V (in dbSNP:rs363360). {ECO:0000269|PubMed:20871611}.		cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AGATCTCATGCGCTAGAGAAA	0.527													C|||	163	0.0325479	0.1165	0.013	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0				p.A233V		Atlas-SNP	.											KCNK18,colon,carcinoma,0,1	KCNK18	70	1	0			c.C698T						scavenged	.	C	VAL/ALA	421,3985	204.1+/-226.4	22,377,1804	103	99	100		698	2.8	0	10	dbSNP_79	100	3,8597	2.2+/-6.3	0,3,4297	no	missense	KCNK18	NM_181840.1	64	22,380,6101	TT,TC,CC		0.0349,9.5552,3.26	benign	233/385	118969353	424,12582	2203	4300	6503	SO:0001583	missense	338567	exon3			CTCATGCGCTAGA	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.698C>T	10.37:g.118969353C>T	ENSP00000334650:p.Ala233Val	Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	67	0.030677655677655676	59	0.11991869918699187	8	0.022099447513812154	0	0.0	0	0.0	C	4.454	0.084176	0.08583	0.095552	3.49E-4	ENSG00000186795	ENST00000334549	T	0.14640	2.49	4.87	2.83	0.33086	.	0.649699	0.15587	N	0.254599	T	0.00144	0.0004	L	0.32530	0.975	0.09310	N	1	P	0.36010	0.532	B	0.27380	0.079	T	0.37957	-0.9683	10	0.31617	T	0.26	.	9.2831	0.37740	0.0:0.648:0.2759:0.0761	rs363360;rs363360	233	Q7Z418	KCNKI_HUMAN	V	233	ENSP00000334650:A233V	ENSP00000334650:A233V	A	+	2	0	KCNK18	118959343	0.289000	0.24334	0.002000	0.10522	0.001000	0.01503	1.454000	0.35178	1.379000	0.46325	0.655000	0.94253	GCG	A|0.000;C|0.963;T|0.037	0.037	strong		0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		T	118969353	C	T	118969353	3	4	22	1	0	0	0	0	1	0	0	0	8065	768	27	1	708	1	KCNK18	10	118969353	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	781825	118969353	16565394	5769	10877										
PDZD8	118987	hgsc.bcm.edu	37	chr10	119133968	119133968	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggccgcccttcaaactgGgagcgcacctcgaagtcgat	12	13	1	0	rs3814230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:119133968G>C	ENST00000334464.5	-	1	1010	c.771C>G	c.(769-771)tcC>tcG	p.S257S		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	257					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCAAACTGGGAGCGCACCT	0.577													G|||	1548	0.309105	0.3782	0.2392	5008	,	,		18250	0.4415		0.1501	False		,,,				2504	0.2924				p.S257S		Atlas-SNP	.											.	PDZD8	85	.	0			c.C771G						PASS	.	G		1491,2915	475.5+/-357.3	242,1007,954	59	62	61		771	-1.7	1	10	dbSNP_107	61	1330,7270	261.2+/-283.7	101,1128,3071	no	coding-synonymous	PDZD8	NM_173791.3		343,2135,4025	CC,CG,GG		15.4651,33.8402,21.69		257/1155	119133968	2821,10185	2203	4300	6503	SO:0001819	synonymous_variant	118987	exon1			AAACTGGGAGCGC	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.771C>G	10.37:g.119133968G>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	CCDS7600.1																																																																																			G|0.766;C|0.234	0.234	strong		0.577	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		C	119133968	G	C	119133968	2	2	22	1	0	0	0	0	0	0	0	1	11705	1219	43	4		4	PDZD8	10	119133968	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	164615	119133968	16400779	5770	10878										
EMX2	2018	hgsc.bcm.edu	37	chr10	119305282	119305282	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcactacgtggtgggcgcCgaaaggaagcagctggcaca	14	10	1	0	rs424112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:119305282C>A	ENST00000553456.3	+	2	1370	c.546C>A	c.(544-546)gcC>gcA	p.A182A	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	182					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGTGGGCGCCGAAAGGAAGC	0.642													C|||	191	0.038139	0.1354	0.0159	5008	,	,		15931	0.0		0.001	False		,,,				2504	0.0				p.A182A		Atlas-SNP	.											.	EMX2	25	.	0			c.C546A						PASS	.	C	,	469,3937	219.7+/-237.4	28,413,1762	46	44	45		,546	-3.2	1	10	dbSNP_80	45	4,8596	3.7+/-12.6	0,4,4296	no	intron,coding-synonymous	EMX2	NM_001165924.1,NM_004098.3	,	28,417,6058	AA,AC,CC		0.0465,10.6446,3.6368	,	,182/253	119305282	473,12533	2203	4300	6503	SO:0001819	synonymous_variant	2018	exon2			GGGCGCCGAAAGG	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.546C>A	10.37:g.119305282C>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	178	95	0.533708	NM_004098	G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	CCDS7601.1																																																																																			C|0.962;A|0.038	0.038	strong		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		A	119305282	C	A	119305282	2	1	22	1	0	0	0	0	0	0	0	1	5108	639	23	4		4	EMX2	10	119305282	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171314	119305282	16229465	5771	10879										
FAM45A	404636	hgsc.bcm.edu	37	chr10	120883045	120883045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcactcttacgtgcacctcAacgccgatgagctggaagcc	9	14	3	1	rs74157632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:120883045A>G	ENST00000361432.2	+	6	684	c.658A>G	c.(658-660)Aac>Gac	p.N220D	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Silent_p.S182S|FAM45A_ENST00000544016.1_Missense_Mutation_p.N69D	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	220										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CGTGCACCTCAACGCCGATGA	0.522													A|||	412	0.0822684	0.2345	0.0591	5008	,	,		17423	0.0466		0.007	False		,,,				2504	0.0072				p.N220D		Atlas-SNP	.											.	FAM45A	30	.	0			c.A658G						PASS	.	A	ASP/ASN	791,3615	316.9+/-294.8	65,661,1477	87	70	76		658	-6	0	10	dbSNP_130	76	56,8544	36.4+/-91.3	1,54,4245	yes	missense	FAM45A	NM_207009.2	23	66,715,5722	GG,GA,AA		0.6512,17.9528,6.5124	benign	220/358	120883045	847,12159	2203	4300	6503	SO:0001583	missense	404636	exon6			CACCTCAACGCCG	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.658A>G	10.37:g.120883045A>G	ENSP00000354688:p.Asn220Asp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_207009	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	161|161	0.07371794871794872|0.07371794871794872	102|102	0.2073170731707317|0.2073170731707317	22|22	0.06077348066298342|0.06077348066298342	33|33	0.057692307692307696|0.057692307692307696	4|4	0.005277044854881266|0.005277044854881266	A|A	1.353|1.353	-0.590889|-0.590889	0.03799|0.03799	0.179528|0.179528	0.006512|0.006512	ENSG00000119979|ENSG00000119979	ENST00000361432;ENST00000544016|ENST00000546291	.|.	.|.	.|.	5.41|5.41	-5.98|-5.98	0.02220|0.02220	.|.	1.163350|.	0.05862|.	N|.	0.623246|.	T|T	0.00039|0.00039	0.0001|0.0001	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.001|.	T|T	0.31724|0.31724	-0.9933|-0.9933	8|5	0.11485|0.87932	T|D	0.65|0	.|.	6.6451|6.6451	0.22931|0.22931	0.2901:0.387:0.3228:0.0|0.2901:0.387:0.3228:0.0	.|.	147;69;212;220|.	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6|.	.;.;.;FA45A_HUMAN|.	D|R	220;69|219	.|.	ENSP00000354688:N220D|ENSP00000442471:Q219R	N|Q	+|+	1|2	0|0	FAM45A|FAM45A	120873035|120873035	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.075000|0.075000	0.17131|0.17131	-0.489000|-0.489000	0.06490|0.06490	-0.952000|-0.952000	0.03649|0.03649	0.443000|0.443000	0.29094|0.29094	AAC|CAA	A|0.934;G|0.066	0.066	strong		0.522	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		G	120883045	A	G	120883045	3	3	22	1	0	0	0	0	1	0	0	0	5564	130	5	2	680	2	FAM45A	10	120883045	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1577763	120883045	14651702	5772	10880										
SFXN4	119559	hgsc.bcm.edu	37	chr10	120920588	120920588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactccgcttccaagcttcTtgtatcttaaaggagaaaaa	7	9	2	2	rs10749291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:120920588T>C	ENST00000355697.2	-	4	277	c.258A>G	c.(256-258)caA>caG	p.Q86Q	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Intron	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	86					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCCAAGCTTCTTGTATCTTAA	0.393													T|||	2476	0.494409	0.4349	0.4496	5008	,	,		17752	0.7163		0.4374	False		,,,				2504	0.4366				p.Q86Q		Atlas-SNP	.											.	SFXN4	24	.	0			c.A258G						PASS	.	T		1901,2505	541.3+/-375.7	412,1077,714	98	105	103		258	2.8	1	10	dbSNP_120	103	4171,4429	560.6+/-387.6	975,2221,1104	no	coding-synonymous	SFXN4	NM_213649.1		1387,3298,1818	CC,CT,TT		48.5,43.1457,46.6861		86/338	120920588	6072,6934	2203	4300	6503	SO:0001819	synonymous_variant	119559	exon4			AGCTTCTTGTATC		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.258A>G	10.37:g.120920588T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_213649	Q6WSU4|Q86TD9	Silent	SNP	ENST00000355697.2	37	CCDS7610.1																																																																																			T|0.515;C|0.485	0.485	strong		0.393	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		C	120920588	T	C	120920588	2	2	22	1	0	0	0	0	0	0	0	1	14197	1606	56	3		3	SFXN4	10	120920588	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37543	120920588	14614159	5773	10881										
GRK5	2869	hgsc.bcm.edu	37	chr10	121086097	121086097	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagttccctcacattagccAgtgtgaagacctccgaagga	10	11	1	2	rs2230345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:121086097A>T	ENST00000392870.2	+	2	451	c.122A>T	c.(121-123)cAg>cTg	p.Q41L		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	41	N-terminal.		Q -> L (exerts a protective effect in heart failure and ischemia; dbSNP:rs17098707). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:18425130}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CACATTAGCCAGTGTGAAGAC	0.552													A|||	532	0.10623	0.3003	0.0331	5008	,	,		18780	0.0188		0.0139	False		,,,				2504	0.0808				p.Q41L		Atlas-SNP	.											.	GRK5	58	.	0			c.A122T	GRCh37	CM082797	GRK5	M	rs17098707	PASS	.	A	LEU/GLN	1166,3240	411.3+/-335.7	162,842,1199	70	65	66		122	3.9	1	10	dbSNP_123	66	97,8503	53.1+/-113.8	0,97,4203	yes	missense	GRK5	NM_005308.2	113	162,939,5402	TT,TA,AA		1.1279,26.4639,9.7109	benign	41/591	121086097	1263,11743	2203	4300	6503	SO:0001583	missense	2869	exon2			TTAGCCAGTGTGA	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.122A>T	10.37:g.121086097A>T	ENSP00000376609:p.Gln41Leu	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_005308	D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	CCDS7612.1	192	0.08791208791208792	160	0.3252032520325203	15	0.04143646408839779	6	0.01048951048951049	11	0.014511873350923483	A	19.26	3.792917	0.70452	0.264639	0.011279	ENSG00000198873	ENST00000369106;ENST00000392870	T	0.02280	4.36	5.02	3.87	0.44632	Regulator of G protein signalling superfamily (1);	0.000000	0.49305	U	0.000157	T	0.00012	0.0000	L	0.28776	0.89	0.09310	P	0.9999999999999988	B	0.09022	0.002	B	0.04013	0.001	T	0.50215	-0.8854	9	0.56958	D	0.05	-14.9861	10.8419	0.46720	0.8506:0.0:0.0:0.1494	rs17098707;rs52829401;rs17098707	41	P34947	GRK5_HUMAN	L	41	ENSP00000376609:Q41L	ENSP00000358102:Q41L	Q	+	2	0	GRK5	121076087	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.862000	0.56009	0.833000	0.34828	0.533000	0.62120	CAG	A|0.905;T|0.095	0.095	strong		0.552	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		T	121086097	A	T	121086097	3	4	22	1	0	0	0	0	1	0	0	0	6792	188	7	5	128	5	GRK5	10	121086097	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	165509	121086097	14448650	5774	10882										
RGS10	6001	hgsc.bcm.edu	37	chr10	121275099	121275099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgagactgcccctccacGttgacctgtgatgaggcctt	11	14	0	4	rs11550215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:121275099G>A	ENST00000369101.3	-	3	324	c.297C>T	c.(295-297)aaC>aaT	p.N99N	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000392865.1_Silent_p.N93N|RGS10_ENST00000369103.2_Silent_p.N107N			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	99	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GCCCCTCCACGTTGACCTGTG	0.552													G|||	160	0.0319489	0.0227	0.0749	5008	,	,		17708	0.001		0.0527	False		,,,				2504	0.0245				p.N107N		Atlas-SNP	.											.	RGS10	14	.	0			c.C321T						PASS	.	G	,	136,4270	98.0+/-136.7	0,136,2067	215	171	186		321,279	-4.1	1	10	dbSNP_120	186	524,8076	146.5+/-202.0	10,504,3786	no	coding-synonymous,coding-synonymous	RGS10	NM_001005339.1,NM_002925.3	,	10,640,5853	AA,AG,GG		6.093,3.0867,5.0746	,	107/182,93/168	121275099	660,12346	2203	4300	6503	SO:0001819	synonymous_variant	6001	exon4			CTCCACGTTGACC	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.297C>T	10.37:g.121275099G>A		Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	250	128	0.512	NM_001005339	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP	ENST00000369101.3	37																																																																																				G|0.951;A|0.049	0.049	strong		0.552	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		A	121275099	G	A	121275099	2	1	22	1	0	0	0	0	0	0	0	1	13293	1136	40	1		1	RGS10	10	121275099	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	189002	121275099	14259648	5775	10883										
C10orf119	79892	hgsc.bcm.edu	37	chr10	121602830	121602830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatgtgttgcaacttctgGgctaagatcacatgaattct	9	7	3	3	rs34297798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:121602830G>A	ENST00000360003.3	-	9	1105	c.936C>T	c.(934-936)gcC>gcT	p.A312A	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.A312A	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	312					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						GCAACTTCTGGGCTAAGATCA	0.483													G|||	44	0.00878594	0.0303	0.0058	5008	,	,		20195	0.0		0.0	False		,,,				2504	0.0				p.A312A		Atlas-SNP	.											.	MCMBP	49	.	0			c.C936T						PASS	.	G		113,4293	86.8+/-125.4	0,113,2090	289	228	249		936	-1.7	1	10	dbSNP_126	249	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	MCMBP	NM_024834.2		0,117,6386	AA,AG,GG		0.0465,2.5647,0.8996		312/643	121602830	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	79892	exon9			CTTCTGGGCTAAG	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.936C>T	10.37:g.121602830G>A		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	214	111	0.518692	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	CCDS7617.1																																																																																			G|0.990;A|0.010	0.010	strong		0.483	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		A	121602830	G	A	121602830	2	1	22	1	0	0	0	0	0	0	0	1	1588	1219	43	2		2	C10orf119	10	121602830	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	327731	121602830	13931917	5776	10884										
WDR11	55717	hgsc.bcm.edu	37	chr10	122649481	122649481	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaatcaaaaattaatagCaatgtacaatgatggagctg					rs150399543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:122649481C>T	ENST00000263461.6	+	18	2549	c.2303C>T	c.(2302-2304)gCa>gTa	p.A768V	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAATTAATAGCAATGTACAAT	0.393													C|||	12	0.00239617	0.0091	0.0	5008	,	,		15112	0.0		0.0	False		,,,				2504	0.0				p.A768V		Atlas-SNP	.											WDR11,NS,carcinoma,-1,1	WDR11	95	1	0			c.C2303T						PASS	.	C	VAL/ALA	30,4376	23.3+/-48.9	0,30,2173	114	108	110		2303	5.5	1	10	dbSNP_134	110	0,8600		0,0,4300	yes	missense	WDR11	NM_018117.11	64	0,30,6473	TT,TC,CC		0.0,0.6809,0.2307	benign	768/1225	122649481	30,12976	2203	4300	6503	SO:0001583	missense	55717	exon18			TAATAGCAATGTA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2303C>T	10.37:g.122649481C>T	ENSP00000263461:p.Ala768Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	58	26	0.448276	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	9.054	0.992836	0.18966	0.006809	0.0	ENSG00000120008	ENST00000263461	T	0.50001	0.76	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);	0.184844	0.49916	D	0.000125	T	0.11024	0.0269	N	0.00648	-1.295	0.44477	D	0.99741	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30357	-0.9981	10	0.02654	T	1	-9.4036	13.0155	0.58754	0.0:0.9262:0.0:0.0738	.	768;768;59;297	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	768	ENSP00000263461:A768V	ENSP00000263461:A768V	A	+	2	0	WDR11	122639471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.417000	0.66423	2.733000	0.93635	0.655000	0.94253	GCA	C|0.997;T|0.003	0.003	strong		0.393	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			T	122649481	C	T	122649481	3	4	22	1	0	0	0	0	1	0	0	0	17270	710	25	2	2373	2	WDR11	10	122649481	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1046651	122649481	12885266	5777	10885	218	2								
WDR11	55717	hgsc.bcm.edu	37	chr10	122649482	122649482	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaatcaaaaattaatagcAatgtacaatgatggagctga					rs2289337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:122649482A>G	ENST00000263461.6	+	18	2550	c.2304A>G	c.(2302-2304)gcA>gcG	p.A768A	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.A768A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AATTAATAGCAATGTACAATG	0.398													A|||	987	0.197085	0.2579	0.1628	5008	,	,		15097	0.0962		0.2207	False		,,,				2504	0.2188				p.A768A		Atlas-SNP	.											WDR11,NS,carcinoma,0,1	WDR11	95	1	1	Substitution - coding silent(1)	stomach(1)	c.A2304G						PASS	.	A		1230,3176	420.2+/-338.9	180,870,1153	113	107	109		2304	-2.9	1	10	dbSNP_100	109	1909,6691	338.5+/-322.8	216,1477,2607	yes	coding-synonymous	WDR11	NM_018117.11		396,2347,3760	GG,GA,AA		22.1977,27.9165,24.135		768/1225	122649482	3139,9867	2203	4300	6503	SO:0001819	synonymous_variant	55717	exon18			AATAGCAATGTAC	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2304A>G	10.37:g.122649482A>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	58	24	0.413793	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																			T|0.005;G|0.229	0.229	strong		0.398	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			G	122649482	A	G	122649482	2	3	22	1	0	0	0	0	0	0	0	1	17270	117	5	2		2	WDR11	10	122649482	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	122649482	12885265	5778	10886	218	2								
FGFR2	2263	hgsc.bcm.edu	37	chr10	123310871	123310871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccaccgcatggttggcAttgggttccccccggctggg	14	14	1	0	rs755793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:123310871A>G	ENST00000358487.5	-	5	829	c.557T>C	c.(556-558)aTg>aCg	p.M186T	FGFR2_ENST00000457416.2_Missense_Mutation_p.M186T|FGFR2_ENST00000357555.5_Missense_Mutation_p.M97T|FGFR2_ENST00000360144.3_Missense_Mutation_p.M97T|FGFR2_ENST00000359354.2_Missense_Mutation_p.M186T|FGFR2_ENST00000356226.4_Missense_Mutation_p.M71T|FGFR2_ENST00000369061.4_Missense_Mutation_p.M186T|FGFR2_ENST00000346997.2_Missense_Mutation_p.M186T|FGFR2_ENST00000369059.1_Missense_Mutation_p.M71T|FGFR2_ENST00000369056.1_Missense_Mutation_p.M186T|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.M186T|FGFR2_ENST00000351936.6_Missense_Mutation_p.M186T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	186	Ig-like C2-type 2.		M -> T (in dbSNP:rs755793). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.15}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATGGTTGGCATTGGGTTCCC	0.517		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				G|||	629	0.125599	0.3638	0.1066	5008	,	,		15709	0.0645		0.007	False		,,,				2504	0.002				p.M186T		Atlas-SNP	.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	FGFR2	758	.	0			c.T557C	GRCh37	CM071761	FGFR2	M	rs755793	PASS	.	G	THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET	1295,3111	698.3+/-406.3	194,907,1102	115	107	109		557,557,557,290,212,557,212,290,557	3.9	0.8	10	dbSNP_86	109	15,8585	818.8+/-406.8	0,15,4285	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	81,81,81,81,81,81,81,81,81	194,922,5387	GG,GA,AA		0.1744,29.3917,10.0723	benign,benign,benign,benign,benign,benign,benign,benign,benign	186/822,186/770,186/710,97/708,71/707,186/706,71/705,97/681,186/823	123310871	1310,11696	2203	4300	6503	SO:0001583	missense	2263	exon5	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	GTTGGCATTGGGT	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.557T>C	10.37:g.123310871A>G	ENSP00000351276:p.Met186Thr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	93	37	0.397849	NM_022970	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	263	0.12042124542124542	176	0.35772357723577236	42	0.11602209944751381	40	0.06993006993006994	5	0.006596306068601583	G	0.006	-2.076963	0.00375	0.293917	0.001744	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.89	3.86	0.44501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.389842	0.28279	N	0.015928	T	0.00012	0.0000	N	0.00855	-1.145	0.80722	P	0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.09377	0.0;0.001;0.0;0.002;0.0;0.0;0.003;0.0;0.004;0.0;0.0;0.002	T	0.29941	-0.9995	9	0.02654	T	1	.	9.2544	0.37575	0.2804:0.0:0.7196:0.0	rs755793;rs52828989;rs60409063;rs755793	205;205;71;186;205;186;97;71;186;205;97;186	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	T	97;186;186;186;71;186;71;186;186;186;97;186;186;97;186	ENSP00000350166:M97T;ENSP00000358057:M186T;ENSP00000351276:M186T;ENSP00000348559:M71T;ENSP00000358056:M186T;ENSP00000358055:M71T;ENSP00000263451:M186T;ENSP00000410294:M186T;ENSP00000309878:M186T;ENSP00000353262:M97T;ENSP00000358052:M186T;ENSP00000358054:M186T;ENSP00000337665:M97T;ENSP00000352309:M186T	ENSP00000337665:M97T	M	-	2	0	FGFR2	123300861	0.028000	0.19301	0.838000	0.33150	0.277000	0.26821	1.098000	0.31000	1.065000	0.40693	-0.166000	0.13349	ATG	A|0.878;G|0.122	0.122	strong		0.517	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		G	123310871	A	G	123310871	3	3	22	1	0	0	0	0	1	0	0	0	5866	217	8	2	2220	2	FGFR2	10	123310871	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	661389	123310871	12223876	5779	10887										
TACC2	10579	hgsc.bcm.edu	37	chr10	123843946	123843946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggggggtgctgggcacaCggacgggccccactctcaga	16	12	1	1	rs60531929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:123843946C>T	ENST00000369005.1	+	4	2271	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	TACC2_ENST00000515273.1_Missense_Mutation_p.T644M|TACC2_ENST00000515603.1_Missense_Mutation_p.T644M|TACC2_ENST00000453444.2_Missense_Mutation_p.T644M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.T644M|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	644					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTGGGCACACGGACGGGCCC	0.612													C|||	150	0.0299521	0.1036	0.0173	5008	,	,		18351	0.0		0.001	False		,,,				2504	0.0				p.T644M		Atlas-SNP	.											.	TACC2	271	.	0			c.C1931T						PASS	.	C	,MET/THR	445,3961	208.8+/-229.8	26,393,1784	37	35	35		,1931	-10	0	10	dbSNP_129	35	9,8591	5.0+/-18.6	0,9,4291	yes	intron,missense	TACC2	NM_206861.1,NM_206862.2	,81	26,402,6075	TT,TC,CC		0.1047,10.0999,3.4907	,possibly-damaging	,644/2949	123843946	454,12552	2203	4300	6503	SO:0001583	missense	10579	exon4			GGCACACGGACGG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1931C>T	10.37:g.123843946C>T	ENSP00000358001:p.Thr644Met	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	31	16	0.516129	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	47	0.02152014652014652	41	0.08333333333333333	6	0.016574585635359115	0	0.0	0	0.0	C	6.831	0.522532	0.13066	0.100999	0.001047	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03413	3.96;3.94;3.94;3.96;3.94	5.02	-10.0	0.00425	.	3.389020	0.01191	N	0.007326	T	0.00073	0.0002	N	0.14661	0.345	0.09310	N	1	P;P;P	0.42757	0.789;0.789;0.789	B;B;B	0.29785	0.107;0.107;0.107	T	0.45659	-0.9246	10	0.45353	T	0.12	11.5241	1.2386	0.01958	0.331:0.1646:0.0943:0.41	rs60531929	644;644;644	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	M	644;644;644;644;644;634	ENSP00000358001:T644M;ENSP00000424467:T644M;ENSP00000427618:T644M;ENSP00000334280:T644M;ENSP00000395048:T644M	ENSP00000334280:T644M	T	+	2	0	TACC2	123833936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.942000	0.00167	-1.779000	0.01280	0.561000	0.74099	ACG	C|0.965;T|0.035	0.035	strong		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123843946	C	T	123843946	3	4	22	1	0	0	0	0	1	0	0	0	15499	536	19	1	1941	1	TACC2	10	123843946	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	533075	123843946	11690801	5780	10888										
TACC2	10579	hgsc.bcm.edu	37	chr10	123970173	123970173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccacggattccgtccccaTctctaagtctacactgtccc	6	17	2	0	rs7083331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:123970173T>C	ENST00000369005.1	+	9	6573	c.6233T>C	c.(6232-6234)aTc>aCc	p.I2078T	TACC2_ENST00000515273.1_Missense_Mutation_p.I2082T|TACC2_ENST00000334433.3_Missense_Mutation_p.I2078T|TACC2_ENST00000368999.1_Missense_Mutation_p.I156T|TACC2_ENST00000453444.2_Missense_Mutation_p.I2082T|TACC2_ENST00000358010.1_Missense_Mutation_p.I224T|TACC2_ENST00000369004.3_Missense_Mutation_p.I156T|TACC2_ENST00000360561.3_Missense_Mutation_p.I156T|TACC2_ENST00000260733.3_Missense_Mutation_p.I156T|TACC2_ENST00000515603.1_Missense_Mutation_p.I2033T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.I224T|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2078			I -> T (in dbSNP:rs7083331).		astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCGTCCCCATCTCTAAGTCT	0.567													T|||	522	0.104233	0.3737	0.0375	5008	,	,		16691	0.0		0.002	False		,,,				2504	0.0				p.I2078T		Atlas-SNP	.											.	TACC2	271	.	0			c.T6233C						PASS	.	T	THR/ILE,THR/ILE,THR/ILE,THR/ILE	1380,3026	456.5+/-351.3	234,912,1057	98	95	96		467,467,671,6233	2.1	0.1	10	dbSNP_116	96	21,8579	14.0+/-48.4	0,21,4279	yes	missense,missense,missense,missense	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	89,89,89,89	234,933,5336	CC,CT,TT		0.2442,31.3209,10.772	benign,benign,benign,benign	156/1027,156/997,224/1095,2078/2949	123970173	1401,11605	2203	4300	6503	SO:0001583	missense	10579	exon9			TCCCCATCTCTAA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6233T>C	10.37:g.123970173T>C	ENSP00000358001:p.Ile2078Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	188	0.08608058608058608	177	0.3597560975609756	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	T	2.370	-0.344560	0.05208	0.313209	0.002442	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.08370	4.02;3.63;4.02;4.04;4.02;3.63;4.02;3.52;3.52;3.52;3.52;3.1	5.5	2.1	0.27182	.	1.500250	0.04801	N	0.433439	T	0.00012	0.0000	N	0.01352	-0.895	0.52099	P	5.8000000000002494E-5	B;B;B;B;B;B;B;B;B	0.13145	0.002;0.007;0.0;0.007;0.007;0.0;0.0;0.001;0.007	B;B;B;B;B;B;B;B;B	0.12156	0.004;0.007;0.001;0.007;0.007;0.002;0.002;0.004;0.007	T	0.47535	-0.9110	9	0.11794	T	0.64	0.8103	7.4447	0.27205	0.0:0.4578:0.0:0.5422	rs7083331;rs52830245;rs7083331	173;2082;156;2033;2082;156;156;224;2078	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	T	2078;224;2082;2033;2078;224;2082;2068;156;156;156;156;173	ENSP00000358001:I2078T;ENSP00000425062:I224T;ENSP00000424467:I2082T;ENSP00000427618:I2033T;ENSP00000334280:I2078T;ENSP00000350701:I224T;ENSP00000395048:I2082T;ENSP00000353763:I156T;ENSP00000357995:I156T;ENSP00000422815:I156T;ENSP00000260733:I156T;ENSP00000420967:I173T	ENSP00000260733:I156T	I	+	2	0	TACC2	123960163	0.000000	0.05858	0.128000	0.21923	0.313000	0.28021	0.587000	0.23909	0.130000	0.18549	0.533000	0.62120	ATC	T|0.899;C|0.101	0.101	strong		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			C	123970173	T	C	123970173	3	2	22	1	0	0	0	0	1	0	0	0	15499	1435	50	2	6335	2	TACC2	10	123970173	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	126227	123970173	11564574	5781	10889										
TACC2	10579	hgsc.bcm.edu	37	chr10	123970513	123970513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagccttattggaggagacGccccttgagcccgctgtggg	14	13	0	2	rs35913854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:123970513G>A	ENST00000369005.1	+	9	6913	c.6573G>A	c.(6571-6573)acG>acA	p.T2191T	TACC2_ENST00000515273.1_Silent_p.T2195T|TACC2_ENST00000515603.1_Silent_p.T2146T|TACC2_ENST00000453444.2_Silent_p.T2195T|TACC2_ENST00000358010.1_Silent_p.T337T|TACC2_ENST00000360561.3_Silent_p.T269T|TACC2_ENST00000368999.1_Silent_p.T269T|TACC2_ENST00000334433.3_Silent_p.T2191T|TACC2_ENST00000369004.3_Silent_p.T269T|TACC2_ENST00000260733.3_Silent_p.T269T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Silent_p.T337T|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2191					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGGAGACGCCCCTTGAGC	0.597													G|||	369	0.0736821	0.2648	0.0259	5008	,	,		15618	0.0		0.001	False		,,,				2504	0.0				p.T2191T		Atlas-SNP	.											.	TACC2	271	.	0			c.G6573A						PASS	.	G	,,,	913,3491	324.5+/-298.6	109,695,1398	54	66	62		807,807,1011,6573	-11.1	0	10	dbSNP_126	62	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	109,709,5684	AA,AG,GG		0.1628,20.7312,7.1286	,,,	269/1027,269/997,337/1095,2191/2949	123970513	927,12077	2202	4300	6502	SO:0001819	synonymous_variant	10579	exon9			GGAGACGCCCCTT	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6573G>A	10.37:g.123970513G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	52	23	0.442308	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																			G|0.936;A|0.064	0.064	strong		0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123970513	G	A	123970513	2	1	22	1	0	0	0	0	0	0	0	1	15499	1074	38	1		1	TACC2	10	123970513	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	340	123970513	11564234	5782	10890										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124351954	124351954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtggctgggccacgtcGgccccaggaaatgcccggtt	16	13	0	0	rs4752722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:124351954G>A	ENST00000338354.3	+	20	2449	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S	DMBT1_ENST00000344338.3_Silent_p.S771S|DMBT1_ENST00000368909.3_Silent_p.S781S|DMBT1_ENST00000368955.3_Silent_p.S771S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	781	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGCCACGTCGGCCCCAGGAA	0.617													g|||	1864	0.372204	0.5469	0.2435	5008	,	,		17432	0.4395		0.1511	False		,,,				2504	0.3855				p.S781S	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											.	DMBT1	677	.	0			c.G2343A						PASS	.	A	,,	1880,2108		461,958,575	179	145	156		,2343,2313	-7.7	0	10	dbSNP_111	156	1157,7105		170,817,3144	no	intron,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	631,1775,3719	AA,AG,GG		14.0039,47.1414,24.7918	,,	,781/2414,771/2404	124351954	3037,9213	1994	4131	6125	SO:0001819	synonymous_variant	1755	exon20			CACGTCGGCCCCA		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2343G>A	10.37:g.124351954G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	154	109	0.707792	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																				G|0.732;A|0.268	0.268	strong		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124351954	G	A	124351954	2	1	22	1	0	0	0	0	0	0	0	1	4577	1103	39	1		1	DMBT1	10	124351954	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	381441	124351954	11182793	5783	10891										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124402677	124402677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacggaccctactcctcgccAtctcttcgcattgcccgctt	6	18	1	0	rs1052715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:124402677A>G	ENST00000338354.3	+	53	7111	c.7005A>G	c.(7003-7005)ccA>ccG	p.P2335P	DMBT1_ENST00000344338.3_Silent_p.P2325P|DMBT1_ENST00000368909.3_Silent_p.P2335P|DMBT1_ENST00000368955.3_Silent_p.P2325P|DMBT1_ENST00000359586.6_Silent_p.P1055P|DMBT1_ENST00000330163.4_Silent_p.P1707P|DMBT1_ENST00000368956.2_Silent_p.P1707P			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2335	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTCCTCGCCATCTCTTCGCA	0.562													G|||	3224	0.64377	0.8767	0.5029	5008	,	,		18545	0.6687		0.4125	False		,,,				2504	0.6411				p.P2335P	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											.	DMBT1	677	.	0			c.A7005G						PASS	.	G	,,	3414,776		1430,554,111	122	133	130		5121,7005,6975	-10.6	0	10	dbSNP_86	130	3531,4913		739,2053,1430	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	2169,2607,1541	GG,GA,AA		41.8167,18.5203,45.0293	,,	1707/1786,2335/2414,2325/2404	124402677	6945,5689	2095	4222	6317	SO:0001819	synonymous_variant	1755	exon53			CTCGCCATCTCTT		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7005A>G	10.37:g.124402677A>G		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																				A|0.423;G|0.577	0.577	strong		0.562	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124402677	A	G	124402677	2	3	22	1	0	0	0	0	0	0	0	1	4577	204	8	2		2	DMBT1	10	124402677	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50723	124402677	11132070	5784	10892										
PSTK	118672	hgsc.bcm.edu	37	chr10	124742858	124742858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacagaggaatggccagagGccacaggcactgcctcctga	12	12	0	3	rs45498396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:124742858G>A	ENST00000368887.3	+	3	1019	c.579G>A	c.(577-579)agG>agA	p.R193R	PSTK_ENST00000405485.1_Silent_p.R193R|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	193					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		ATGGCCAGAGGCCACAGGCAC	0.453													G|||	563	0.11242	0.1785	0.1254	5008	,	,		17620	0.0099		0.1869	False		,,,				2504	0.0429				p.R193R		Atlas-SNP	.											.	PSTK	34	.	0			c.G579A						PASS	.	G		648,3758	277.5+/-273.7	59,530,1614	71	71	71		579	-2.4	0	10	dbSNP_127	71	1557,7043	292.6+/-300.9	140,1277,2883	no	coding-synonymous	PSTK	NM_153336.2		199,1807,4497	AA,AG,GG		18.1047,14.7072,16.9537		193/349	124742858	2205,10801	2203	4300	6503	SO:0001819	synonymous_variant	118672	exon3			CCAGAGGCCACAG	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.579G>A	10.37:g.124742858G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	103	58	0.563107	NM_153336	Q6ZSS9	Silent	SNP	ENST00000368887.3	37	CCDS7633.1	270	0.12362637362637363	71	0.1443089430894309	54	0.14917127071823205	5	0.008741258741258742	140	0.18469656992084432	G	7.080	0.569992	0.13560	0.147072	0.181047	ENSG00000179988	ENST00000406217	.	.	.	5.86	-2.41	0.06562	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.09310	P	0.99999999577586	.	.	.	.	.	.	T	0.30736	-0.9968	3	.	.	.	-11.4716	15.141	0.72609	0.3487:0.0:0.6513:0.0	rs45498396;rs61744313	.	.	.	D	194	.	.	G	+	2	0	PSTK	124732848	0.019000	0.18553	0.020000	0.16555	0.948000	0.59901	0.213000	0.17521	-0.708000	0.05015	-0.471000	0.05019	GGC	G|0.842;A|0.158	0.158	strong		0.453	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		A	124742858	G	A	124742858	2	1	22	1	0	0	0	0	0	0	0	1	12720	1194	42	2		2	PSTK	10	124742858	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	340181	124742858	10791889	5785	10893										
GPR26	2849	hgsc.bcm.edu	37	chr10	125447511	125447511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgtccaagtgcttggcGtacagcaaggccgcatccga	13	12	0	0	rs62640899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:125447511G>A	ENST00000284674.1	+	3	902	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	283					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGTGCTTGGCGTACAGCAAGG	0.577													G|||	139	0.0277556	0.1006	0.0072	5008	,	,		17997	0.0		0.001	False		,,,				2504	0.0				p.A283A		Atlas-SNP	.											.	GPR26	47	.	0			c.G849A						PASS	.	G		363,4043	186.4+/-213.3	16,331,1856	91	80	84		849	2.3	1	10	dbSNP_129	84	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	GPR26	NM_153442.3		16,338,6149	AA,AG,GG		0.0814,8.2388,2.8448		283/338	125447511	370,12636	2203	4300	6503	SO:0001819	synonymous_variant	2849	exon3			CTTGGCGTACAGC		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.849G>A	10.37:g.125447511G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	67	31	0.462687	NM_153442	Q2M2E2	Silent	SNP	ENST00000284674.1	37	CCDS7636.1																																																																																			G|0.970;A|0.030	0.030	strong		0.577	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			A	125447511	G	A	125447511	2	1	22	1	0	0	0	0	0	0	0	1	6684	1132	40	1		1	GPR26	10	125447511	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	704653	125447511	10087236	5786	10894										
CPXM2	119587	hgsc.bcm.edu	37	chr10	125528048	125528048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagggccattaccccttcGtaggccttctcgtagccatc	9	16	1	0	rs1219725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:125528048G>A	ENST00000241305.3	-	9	1447	c.1293C>T	c.(1291-1293)taC>taT	p.Y431Y	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	431					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTACCCCTTCGTAGGCCTTCT	0.612													G|||	1897	0.378794	0.1528	0.4784	5008	,	,		11886	0.5992		0.3738	False		,,,				2504	0.3916				p.Y431Y		Atlas-SNP	.											.	CPXM2	120	.	0			c.C1293T						PASS	.	G		844,3562	331.8+/-302.1	73,698,1432	68	56	60		1293	-4.3	0.4	10	dbSNP_87	60	3228,5372	485.9+/-371.8	614,2000,1686	no	coding-synonymous	CPXM2	NM_198148.2		687,2698,3118	AA,AG,GG		37.5349,19.1557,31.3086		431/757	125528048	4072,8934	2203	4300	6503	SO:0001819	synonymous_variant	119587	exon9			CCCTTCGTAGGCC	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1293C>T	10.37:g.125528048G>A		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	36	36	1	NM_198148	B4E3Q2	Silent	SNP	ENST00000241305.3	37	CCDS7637.1																																																																																			G|0.654;A|0.346	0.346	strong		0.612	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125528048	G	A	125528048	2	1	22	1	0	0	0	0	0	0	0	1	3838	1140	40	1		1	CPXM2	10	125528048	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80537	125528048	10006699	5787	10895										
CPXM2	119587	hgsc.bcm.edu	37	chr10	125651150	125651150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcaccagggccagcgctGgggtagcggtccccgggcgg	20	13	0	0	rs112027854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:125651150G>A	ENST00000241305.3	-	1	180	c.26C>T	c.(25-27)cCa>cTa	p.P9L	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	9					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCAGCGCTGGGGTAGCGGT	0.751													g|||	131	0.0261581	0.0938	0.0101	5008	,	,		8004	0.0		0.0	False		,,,				2504	0.0				p.P9L		Atlas-SNP	.											CPXM2,rectum,carcinoma,0,1	CPXM2	120	1	0			c.C26T						PASS	.		LEU/PRO	153,2681		2,149,1266	4	6	5		26	-2.5	0	10	dbSNP_132	5	3,5397		0,3,2697	no	missense	CPXM2	NM_198148.2	98	2,152,3963	AA,AG,GG		0.0556,5.3987,1.8946	benign	9/757	125651150	156,8078	1417	2700	4117	SO:0001583	missense	119587	exon1			AGCGCTGGGGTAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.26C>T	10.37:g.125651150G>A	ENSP00000241305:p.Pro9Leu	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	18	7	0.388889	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.916952	0.33815	0.053987	5.56E-4	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.96716	-4.1	3.45	-2.48	0.06423	.	3.521810	0.01155	N	0.006503	T	0.66406	0.2786	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.78841	-0.2045	10	0.30078	T	0.28	0.0228	7.7622	0.28959	0.6768:0.0:0.3232:0.0	.	9	Q8N436	CPXM2_HUMAN	L	9	ENSP00000241305:P9L	ENSP00000241305:P9L	P	-	2	0	CPXM2	125641140	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.090000	0.11163	-0.418000	0.07450	-0.701000	0.03672	CCA	G|0.500;A|0.500	0.500	weak		0.751	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125651150	G	A	125651150	3	1	22	1	0	0	0	0	1	0	0	0	3838	1348	47	2	2300	2	CPXM2	10	125651150	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	123102	125651150	9883597	5788	10896										
ZRANB1	54764	hgsc.bcm.edu	37	chr10	126631482	126631482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgatccttgtgaggaataCaatgatagaaataaactgaa	9	4	0	5			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:126631482C>T	ENST00000359653.4	+	1	791	c.420C>T	c.(418-420)taC>taT	p.Y140Y	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	140					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTGAGGAATACAATGATAGAA	0.443																																					p.Y140Y		Atlas-SNP	.											ZRANB1,NS,carcinoma,+1,1	ZRANB1	60	1	0			c.C420T						scavenged	.						104	100	101					10																	126631482		2203	4300	6503	SO:0001819	synonymous_variant	54764	exon1			GGAATACAATGAT	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.420C>T	10.37:g.126631482C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_017580	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	CCDS7642.1																																																																																			.	.	none		0.443	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		T	126631482	C	T	126631482	2	4	22	1	0	0	0	0	0	0	0	1	18219	489	17	2		2	ZRANB1	10	126631482	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	980332	126631482	8903265	5789	10897										
CTBP2	1488	hgsc.bcm.edu	37	chr10	126715075	126715075	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggggcagaataggtggcTgccgtctccaggaggtgctg	17	10	1	1	rs3781413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:126715075T>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Silent_p.A418A|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AATAGGTGGCTGCCGTCTCCA	0.687													C|||	609	0.121605	0.1074	0.2896	5008	,	,		13999	0.0456		0.1352	False		,,,				2504	0.0859				p.A418A		Atlas-SNP	.											CTBP2,NS,carcinoma,0,1	CTBP2	100	1	0			c.A1254G						PASS	.	C	,,	411,3985		17,377,1804	28	26	27		,,1254	-6	0	10	dbSNP_107	27	1080,7510		61,958,3276	no	intron,intron,coding-synonymous	CTBP2	NM_001083914.1,NM_001329.2,NM_022802.2	,,	78,1335,5080	CC,CT,TT		12.5728,9.3494,11.4816	,,	,,418/986	126715075	1491,11495	2198	4295	6493	SO:0001627	intron_variant	1488	exon1			GGTGGCTGCCGTC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12490A>G	10.37:g.126715075T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_022802	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																			T|0.892;C|0.108	0.108	strong		0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		C	126715075	T	C	126715075	1	2	22	0	1	0	0	0	0	0	0	0	3998	1567	55	3		3	CTBP2	10	126715075	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	83593	126715075	8819672	5790	10898										
CTBP2	1488	hgsc.bcm.edu	37	chr10	126715436	126715436	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgccagcccctccgccCgcagaaaggccaggaactca	9	19	2	1	rs3781411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:126715436C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R298Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCCCTCCGCCCGCAGAAAGGC	0.632													C|||	611	0.122005	0.1089	0.2896	5008	,	,		17635	0.0456		0.1352	False		,,,				2504	0.0859				p.R298Q		Atlas-SNP	.											.	CTBP2	100	.	0			c.G893A						PASS	.	C	,,GLN/ARG	449,3957	210.5+/-231.0	18,413,1772	43	45	44		,,893	4	1	10	dbSNP_107	44	1127,7473	229.1+/-263.9	66,995,3239	yes	intron,intron,missense	CTBP2	NM_001083914.1,NM_001329.2,NM_022802.2	,,43	84,1408,5011	TT,TC,CC		13.1047,10.1906,12.1175	,,probably-damaging	,,298/986	126715436	1576,11430	2203	4300	6503	SO:0001627	intron_variant	1488	exon1			TCCGCCCGCAGAA	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12129G>A	10.37:g.126715436C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	202	106	0.524752	NM_022802	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	260	0.11904761904761904	48	0.0975609756097561	86	0.23756906077348067	30	0.05244755244755245	96	0.1266490765171504	C	22.1	4.249659	0.80024	0.101906	0.131047	ENSG00000175029	ENST00000309035	D	0.87571	-2.27	4.88	3.96	0.45880	.	0.086330	0.44483	D	0.000446	T	0.00241	0.0007	.	.	.	0.09310	P	1.0	D	0.76494	0.999	P	0.60345	0.873	T	0.00005	-1.2543	8	0.87932	D	0	.	14.1729	0.65522	0.0:0.923:0.0:0.077	rs3781411;rs3781411	298	P56545-2	.	Q	298	ENSP00000311825:R298Q	ENSP00000311825:R298Q	R	-	2	0	CTBP2	126705426	1.000000	0.71417	0.988000	0.46212	0.723000	0.41478	3.859000	0.55987	2.423000	0.82170	0.655000	0.94253	CGG	C|0.882;T|0.118	0.118	strong		0.632	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		T	126715436	C	T	126715436	1	4	22	0	1	0	0	0	0	0	0	0	3998	652	23	1		1	CTBP2	10	126715436	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	361	126715436	8819311	5791	10899										
MMP21	118856	hgsc.bcm.edu	37	chr10	127456150	127456150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtcttcggtcataaaacGccgtgtctaggggacttggg	13	9	4	0	rs28381319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:127456150G>A	ENST00000368808.3	-	6	1360	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	454			A -> V (in dbSNP:rs28381319). {ECO:0000269|Ref.3}.		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GTCATAAAACGCCGTGTCTAG	0.443													G|||	174	0.0347444	0.1225	0.013	5008	,	,		19942	0.001		0.0	False		,,,				2504	0.002				p.A454V		Atlas-SNP	.											.	MMP21	46	.	0			c.C1361T						PASS	.	G	VAL/ALA	372,4034	189.2+/-215.4	8,356,1839	152	146	148		1361	5.8	1	10	dbSNP_125	148	2,8598	1.2+/-3.3	0,2,4298	yes	missense	MMP21	NM_147191.1	64	8,358,6137	AA,AG,GG		0.0233,8.443,2.8756	possibly-damaging	454/570	127456150	374,12632	2203	4300	6503	SO:0001583	missense	118856	exon6			TAAAACGCCGTGT	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1361C>T	10.37:g.127456150G>A	ENSP00000357798:p.Ala454Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	126	64	0.507937	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	77	0.035256410256410256	72	0.14634146341463414	5	0.013812154696132596	0	0.0	0	0.0	G	18.53	3.643997	0.67244	0.08443	2.33E-4	ENSG00000154485	ENST00000368808	T	0.04194	3.68	5.75	5.75	0.90469	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.00073	0.0002	M	0.80616	2.505	0.09310	P	0.99999826623	D	0.59767	0.986	B	0.43360	0.417	T	0.14587	-1.0467	9	0.54805	T	0.06	-14.0558	17.4385	0.87559	0.0:0.0:1.0:0.0	rs28381319	454	Q8N119	MMP21_HUMAN	V	454	ENSP00000357798:A454V	ENSP00000357798:A454V	A	-	2	0	MMP21	127446140	1.000000	0.71417	0.957000	0.39632	0.017000	0.09413	8.132000	0.89603	2.719000	0.93026	0.655000	0.94253	GCG	G|0.956;A|0.044	0.044	strong		0.443	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			A	127456150	G	A	127456150	3	1	22	1	0	0	0	0	1	0	0	0	9660	1087	38	1	356	1	MMP21	10	127456150	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	740714	127456150	8078597	5792	10900										
ADAM12	8038	hgsc.bcm.edu	37	chr10	127737930	127737930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccggcctccttgctgcagGgggatgtttgtttctatgga	13	9	1	0	rs2292692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:127737930G>A	ENST00000368679.4	-	16	2127	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P	ADAM12_ENST00000368676.4_Silent_p.P606P|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	606	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGCTGCAGGGGGATGTTTG	0.562													g|||	618	0.123403	0.1256	0.1513	5008	,	,		18562	0.0278		0.162	False		,,,				2504	0.1595				p.P606P		Atlas-SNP	.											.	ADAM12	388	.	0			c.C1818T						PASS	.	A	,	562,3844	249.6+/-257.0	29,504,1670	109	113	112		1818,1818	-10.1	0.1	10	dbSNP_100	112	1161,7439	237.4+/-269.2	76,1009,3215	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	105,1513,4885	AA,AG,GG		13.5,12.7553,13.2477	,	606/910,606/739	127737930	1723,11283	2203	4300	6503	SO:0001819	synonymous_variant	8038	exon16			CTGCAGGGGGATG	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1818C>T	10.37:g.127737930G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	136	60	0.441176	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																			G|0.869;A|0.131	0.131	strong		0.562	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			A	127737930	G	A	127737930	2	1	22	1	0	0	0	0	0	0	0	1	236	1219	43	2		2	ADAM12	10	127737930	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	281780	127737930	7796817	5793	10901										
ADAM12	8038	hgsc.bcm.edu	37	chr10	127753478	127753478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccatcgtgcaggtacacGttggctgggcagtgagggct	16	10	0	1	rs1278279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:127753478G>A	ENST00000368679.4	-	14	1824	c.1515C>T	c.(1513-1515)aaC>aaT	p.N505N	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.N505N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	505	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCAGGTACACGTTGGCTGGGC	0.607													G|||	1516	0.302716	0.3775	0.4294	5008	,	,		19629	0.1647		0.2406	False		,,,				2504	0.318				p.N505N		Atlas-SNP	.											.	ADAM12	388	.	0			c.C1515T						PASS	.	G	,	1498,2908	465.7+/-354.3	249,1000,954	107	84	92		1515,1515	-2.3	1	10	dbSNP_87	92	1809,6791	321.5+/-315.1	174,1461,2665	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	423,2461,3619	AA,AG,GG		21.0349,33.9991,25.4267	,	505/910,505/739	127753478	3307,9699	2203	4300	6503	SO:0001819	synonymous_variant	8038	exon14			GTACACGTTGGCT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1515C>T	10.37:g.127753478G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	74	37	0.5	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																			G|0.726;A|0.274	0.274	strong		0.607	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			A	127753478	G	A	127753478	2	1	22	1	0	0	0	0	0	0	0	1	236	1136	40	1		1	ADAM12	10	127753478	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15548	127753478	7781269	5794	10902										
ADAM12	8038	hgsc.bcm.edu	37	chr10	127824167	127824167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttacctgagaccagaacaCgtgctgagactgactgctga	10	11	0	5	rs12098586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:127824167C>T	ENST00000368679.4	-	5	720	c.411G>A	c.(409-411)acG>acA	p.T137T	ADAM12_ENST00000368676.4_Silent_p.T137T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	137					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACCAGAACACGTGCTGAGAC	0.498													c|||	207	0.0413339	0.1415	0.0259	5008	,	,		19767	0.0		0.002	False		,,,				2504	0.0				p.T137T		Atlas-SNP	.											.	ADAM12	388	.	0			c.G411A						PASS	.	C	,	514,3892	237.4+/-249.2	33,448,1722	161	120	134		411,411	-6.5	0.9	10	dbSNP_120	134	24,8576	17.9+/-57.8	0,24,4276	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	33,472,5998	TT,TC,CC		0.2791,11.6659,4.1366	,	137/910,137/739	127824167	538,12468	2203	4300	6503	SO:0001819	synonymous_variant	8038	exon5			AGAACACGTGCTG	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.411G>A	10.37:g.127824167C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	125	61	0.488	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																			C|0.960;T|0.040	0.040	strong		0.498	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127824167	C	T	127824167	2	4	22	1	0	0	0	0	0	0	0	1	236	523	19	1		1	ADAM12	10	127824167	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70689	127824167	7710580	5795	10903										
C10orf90	118611	hgsc.bcm.edu	37	chr10	128192985	128192985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctacgtaatagattgaatCtggacactgctgagacaccc	9	10	2	3	rs11245007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:128192985C>T	ENST00000284694.7	-	3	904	c.784G>A	c.(784-786)Gat>Aat	p.D262N	C10orf90_ENST00000356858.3_Missense_Mutation_p.D215N|C10orf90_ENST00000454341.1_Missense_Mutation_p.D262N|C10orf90_ENST00000544758.1_Missense_Mutation_p.D359N|C10orf90_ENST00000392694.1_Missense_Mutation_p.D215N|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	262			D -> N (in dbSNP:rs11245007). {ECO:0000269|PubMed:15489334}.		mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TAGATTGAATCTGGACACTGC	0.522											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	2507	0.500599	0.6876	0.4121	5008	,	,		17270	0.5099		0.3082	False		,,,				2504	0.499				p.D262N		Atlas-SNP	.											.	C10orf90	121	.	0			c.G784A						PASS	.	T	ASN/ASP	2620,1786	525.9+/-371.7	780,1060,363	107	114	112		784	1.6	0	10	dbSNP_120	112	2596,6004	688.7+/-404.3	388,1820,2092	yes	missense	C10orf90	NM_001004298.2	23	1168,2880,2455	TT,TC,CC		30.186,40.5356,40.1046	benign	262/700	128192985	5216,7790	2203	4300	6503	SO:0001583	missense	118611	exon3			TTGAATCTGGACA	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.784G>A	10.37:g.128192985C>T	ENSP00000284694:p.Asp262Asn	Somatic	105	0	0	1563	WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	973	0.44551282051282054	330	0.6707317073170732	140	0.3867403314917127	273	0.4772727272727273	230	0.3034300791556728	T	2.249	-0.371988	0.05034	0.594644	0.30186	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.14516	2.82;2.83;2.74;2.81;2.5	5.38	1.59	0.23543	.	0.558322	0.17356	N	0.177212	T	0.00012	0.0000	N	0.00268	-1.735	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.34650	-0.9820	9	0.02654	T	1	-6.3276	5.2208	0.15368	0.0:0.1499:0.286:0.5641	rs11245007;rs52797966;rs56501299;rs60291468;rs11245007	359;359;215;262;262	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	N	215;262;262;359;262;215;215	ENSP00000284694:D262N;ENSP00000398786:D262N;ENSP00000444369:D359N;ENSP00000405995:D262N;ENSP00000376459:D215N	ENSP00000284694:D262N	D	-	1	0	C10orf90	128182975	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	1.599000	0.36751	-0.113000	0.11958	-1.062000	0.02293	GAT	C|0.557;T|0.443	0.443	strong		0.522	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		T	128192985	C	T	128192985	3	4	22	1	0	0	0	0	1	0	0	0	1623	913	32	2	1343	2	C10orf90	10	128192985	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	368818	128192985	7341762	5796	10904										
C10orf90	118611	hgsc.bcm.edu	37	chr10	128193368	128193368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatggatgcaaaccctctgCgggggcccccacagggtctc	13	14	2	1	rs11245008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:128193368C>T	ENST00000284694.7	-	3	521	c.401G>A	c.(400-402)cGc>cAc	p.R134H	C10orf90_ENST00000356858.3_Missense_Mutation_p.R87H|C10orf90_ENST00000544758.1_Missense_Mutation_p.R231H|C10orf90_ENST00000454341.1_Missense_Mutation_p.R134H|C10orf90_ENST00000392694.1_Missense_Mutation_p.R87H|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	134	Required for interaction with HDAC1. {ECO:0000250}.		R -> H (in dbSNP:rs11245008).		mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AAACCCTCTGCGGGGGCCCCC	0.672											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1077	0.215056	0.4592	0.1599	5008	,	,		14007	0.129		0.1153	False		,,,				2504	0.1155				p.R134H		Atlas-SNP	.											.	C10orf90	121	.	0			c.G401A						PASS	.	C	HIS/ARG	1634,2730		321,992,869	28	33	32		401	-9.9	0	10	dbSNP_120	32	1103,7457		75,953,3252	yes	missense	C10orf90	NM_001004298.2	29	396,1945,4121	TT,TC,CC		12.8855,37.4427,21.1777	benign	134/700	128193368	2737,10187	2182	4280	6462	SO:0001583	missense	118611	exon3			CCTCTGCGGGGGC	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.401G>A	10.37:g.128193368C>T	ENSP00000284694:p.Arg134His	Somatic	105	0	0	1563	WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	449	0.20558608058608058	217	0.4410569105691057	59	0.16298342541436464	85	0.1486013986013986	88	0.11609498680738786	C	9.636	1.137739	0.21123	0.374427	0.128855	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.26810	2.01;2.01;2.03;2.02;1.71	4.97	-9.93	0.00452	.	1.535690	0.03830	N	0.268998	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B;B;B;B;B	0.18741	0.003;0.008;0.03;0.008;0.008	B;B;B;B;B	0.14578	0.003;0.002;0.011;0.003;0.003	T	0.31052	-0.9957	9	0.30078	T	0.28	-0.0577	11.4554	0.50179	0.0:0.2321:0.1567:0.6112	rs11245008;rs60449744;rs11245008	231;231;87;134;134	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	H	87;134;134;231;134;87;87	ENSP00000284694:R134H;ENSP00000398786:R134H;ENSP00000444369:R231H;ENSP00000405995:R134H;ENSP00000376459:R87H	ENSP00000284694:R134H	R	-	2	0	C10orf90	128183358	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.225000	0.01212	-3.872000	0.00096	-1.421000	0.01109	CGC	C|0.781;T|0.219	0.219	strong		0.672	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		T	128193368	C	T	128193368	3	4	22	1	0	0	0	0	1	0	0	0	1623	768	27	1	1726	1	C10orf90	10	128193368	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	383	128193368	7341379	5797	10905										
DOCK1	1793	hgsc.bcm.edu	37	chr10	128795081	128795081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatccagaattaactagcacGattagtctcttcagagctca	7	10	3	2	rs79043452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:128795081G>A	ENST00000280333.6	+	7	652	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	181					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TAACTAGCACGATTAGTCTCT	0.368													G|||	19	0.00379393	0.0144	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.0				p.T181T		Atlas-SNP	.											.	DOCK1	188	.	0			c.G543A						PASS	.	G		40,3640		0,40,1800	214	203	206		498	-10.2	0	10	dbSNP_133	206	1,8191		0,1,4095	no	coding-synonymous	DOCK1	NM_001380.3		0,41,5895	AA,AG,GG		0.0122,1.087,0.3454		166/1851	128795081	41,11831	1840	4096	5936	SO:0001819	synonymous_variant	1793	exon7			TAGCACGATTAGT	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.543G>A	10.37:g.128795081G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	159	79	0.496855	NM_001380	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																				G|0.997;A|0.003	0.003	strong		0.368	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	128795081	G	A	128795081	2	1	22	1	0	0	0	0	0	0	0	1	4684	1045	37	1		1	DOCK1	10	128795081	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	601713	128795081	6739666	5798	10906										
FAM196A	642938	hgsc.bcm.edu	37	chr10	128974220	128974220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctcgttcttctctttcGcatctgttagaaacccattg	6	13	3	1	rs11594560	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:128974220G>A	ENST00000522781.1	-	4	995	c.440C>T	c.(439-441)gCg>gTg	p.A147V	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.A147V	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	147			A -> V (in dbSNP:rs11594560).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTCTCTTTCGCATCTGTTAG	0.547													G|||	830	0.165735	0.0446	0.2133	5008	,	,		17929	0.0347		0.2793	False		,,,				2504	0.3139				p.A147V		Atlas-SNP	.											.	FAM196A	55	.	0			c.C440T						PASS	.	G	VAL/ALA,	341,4065	178.0+/-206.8	14,313,1876	90	85	87		440,	2.6	0	10	dbSNP_120	87	2355,6245	393.7+/-344.5	324,1707,2269	yes	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	64,	338,2020,4145	AA,AG,GG		27.3837,7.7394,20.7289	benign,	147/480,	128974220	2696,10310	2203	4300	6503	SO:0001583	missense	642938	exon4			TCTTTCGCATCTG		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.440C>T	10.37:g.128974220G>A	ENSP00000429763:p.Ala147Val	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	158	83	0.525316	NM_001039762	B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	CCDS31312.1	346	0.15842490842490842	27	0.054878048780487805	92	0.2541436464088398	12	0.02097902097902098	215	0.2836411609498681	G	0.008	-1.931052	0.00488	0.077394	0.273837	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.42513	0.97;0.97	4.46	2.58	0.30949	.	1.061370	0.07259	N	0.867102	T	0.00012	0.0000	L	0.56769	1.78	0.80722	P	0.0	B;B	0.13145	0.007;0.003	B;B	0.09377	0.001;0.004	T	0.35375	-0.9791	9	0.02654	T	1	.	6.43	0.21790	0.3258:0.0:0.6742:0.0	rs11594560;rs56480626;rs60757760;rs11594560	147;147	B7ZME7;Q6ZSG2	.;F196A_HUMAN	V	147	ENSP00000429763:A147V;ENSP00000428730:A147V	ENSP00000428730:A147V	A	-	2	0	FAM196A	128864210	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.577000	0.23758	1.180000	0.42898	0.563000	0.77884	GCG	G|0.829;A|0.171	0.171	strong		0.547	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		A	128974220	G	A	128974220	3	1	22	1	0	0	0	0	1	0	0	0	5528	1087	38	1	1011	1	FAM196A	10	128974220	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	179139	128974220	6560527	5799	10907										
CLRN3	119467	hgsc.bcm.edu	37	chr10	129676520	129676520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgatggttacagtgactaTatttagaagaatgacgagca	11	4	0	5	rs34656572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129676520T>C	ENST00000368671.3	-	3	736	c.574A>G	c.(574-576)Ata>Gta	p.I192V		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	192						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAGTGACTATATTTAGAAGA	0.458													T|||	45	0.00898562	0.0333	0.0014	5008	,	,		22782	0.0		0.0	False		,,,				2504	0.0				p.I192V		Atlas-SNP	.											.	CLRN3	27	.	0			c.A574G						PASS	.	T	VAL/ILE	169,4237	113.3+/-151.4	3,163,2037	220	190	200		574	-6.1	0	10	dbSNP_126	200	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CLRN3	NM_152311.3	29	3,165,6335	CC,CT,TT		0.0233,3.8357,1.3148	benign	192/227	129676520	171,12835	2203	4300	6503	SO:0001583	missense	119467	exon3			TGACTATATTTAG	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.574A>G	10.37:g.129676520T>C	ENSP00000357660:p.Ile192Val	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	136	69	0.507353	NM_152311	Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	CCDS7656.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	T	4.071	0.010943	0.07912	0.038357	2.33E-4	ENSG00000180745	ENST00000368671	T	0.75154	-0.91	4.48	-6.08	0.02151	.	0.505264	0.18944	N	0.126863	T	0.21761	0.0524	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.24941	-1.0146	10	0.10377	T	0.69	.	16.6501	0.85187	0.0:0.7096:0.0:0.2904	rs34656572	192;124	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	V	192	ENSP00000357660:I192V	ENSP00000357660:I192V	I	-	1	0	CLRN3	129566510	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.443000	0.01013	-1.177000	0.02744	-0.263000	0.10527	ATA	T|0.989;C|0.011	0.011	strong		0.458	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		C	129676520	T	C	129676520	3	2	22	1	0	0	0	0	1	0	0	0	3559	1406	49	2	110	2	CLRN3	10	129676520	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	702300	129676520	5858227	5800	10908										
PTPRE	5791	hgsc.bcm.edu	37	chr10	129866449	129866449	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacttcaccagctggccCgacttcggagtgccttttac	9	15	1	0	rs7100666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129866449C>G	ENST00000254667.3	+	12	1185	c.906C>G	c.(904-906)ccC>ccG	p.P302P	PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.P244P|PTPRE_ENST00000419012.2_Silent_p.P302P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	302	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCAGCTGGCCCGACTTCGGAG	0.607													C|||	876	0.17492	0.1528	0.1585	5008	,	,		17460	0.2609		0.0835	False		,,,				2504	0.2219				p.P302P	Colon(52;977 1184 20575 41685)	Atlas-SNP	.											PTPRE_ENST00000306042,NS,carcinoma,0,4	PTPRE	132	4	0			c.C906G						PASS	.	C	,	697,3709	291.5+/-281.6	60,577,1566	56	54	55		906,732	-5.1	1	10	dbSNP_116	55	720,7880	174.8+/-225.0	34,652,3614	no	coding-synonymous,coding-synonymous	PTPRE	NM_006504.4,NM_130435.3	,	94,1229,5180	GG,GC,CC		8.3721,15.8193,10.895	,	302/701,244/643	129866449	1417,11589	2203	4300	6503	SO:0001819	synonymous_variant	5791	exon12			CTGGCCCGACTTC	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.906C>G	10.37:g.129866449C>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	67	37	0.552239	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																			C|0.880;G|0.120	0.120	strong		0.607	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			G	129866449	C	G	129866449	2	3	22	1	0	0	0	0	0	0	0	1	12800	639	23	4		4	PTPRE	10	129866449	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	189929	129866449	5668298	5801	10909										
PTPRE	5791	hgsc.bcm.edu	37	chr10	129871690	129871690	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgatctgggaatggaaAtcccacactatcgtgatgct	11	8	1	2	rs2275803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129871690A>G	ENST00000254667.3	+	17	1833	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K	PTPRE_ENST00000306042.5_Silent_p.K460K|PTPRE_ENST00000419012.2_Silent_p.K518K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	518	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K518K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGGAATGGAAATCCCACACTA	0.597													A|||	1296	0.258786	0.2829	0.2435	5008	,	,		20991	0.2599		0.2018	False		,,,				2504	0.2945				p.K518K	Colon(52;977 1184 20575 41685)	Atlas-SNP	.											PTPRE,NS,carcinoma,0,1	PTPRE	132	1	1	Substitution - coding silent(1)	stomach(1)	c.A1554G						PASS	.	A	,	1176,3230	415.2+/-337.1	153,870,1180	119	101	107		1554,1380	1.5	1	10	dbSNP_100	107	1752,6848	317.9+/-313.4	185,1382,2733	no	coding-synonymous,coding-synonymous	PTPRE	NM_006504.4,NM_130435.3	,	338,2252,3913	GG,GA,AA		20.3721,26.6909,22.5127	,	518/701,460/643	129871690	2928,10078	2203	4300	6503	SO:0001819	synonymous_variant	5791	exon17			ATGGAAATCCCAC	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1554A>G	10.37:g.129871690A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																			G|0.223;N|0.000	0.223	strong		0.597	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			G	129871690	A	G	129871690	2	3	22	1	0	0	0	0	0	0	0	1	12800	98	4	2		2	PTPRE	10	129871690	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5241	129871690	5663057	5802	10910										
MKI67	4288	hgsc.bcm.edu	37	chr10	129899543	129899543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttggattttctgcacaCctcttgacactccgcgttac	6	13	3	1	rs10082504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129899543C>T	ENST00000368654.3	-	14	10059	c.9684G>A	c.(9682-9684)agG>agA	p.R3228R	MKI67_ENST00000368653.3_Silent_p.R2868R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3228					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R3228R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGCACACCTCTTGACAC	0.433													C|||	519	0.103634	0.0666	0.1556	5008	,	,		21188	0.1389		0.0785	False		,,,				2504	0.1063				p.R3228R		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - coding silent(1)	stomach(1)	c.G9684A						scavenged	.	C	,	301,4105	164.4+/-196.0	13,275,1915	130	121	124		8604,9684	-0.4	0	10	dbSNP_119	124	803,7797	188.0+/-235.1	40,723,3537	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	53,998,5452	TT,TC,CC		9.3372,6.8316,8.4884	,	2868/2897,3228/3257	129899543	1104,11902	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon14			TGCACACCTCTTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9684G>A	10.37:g.129899543C>T		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	161	73	0.453416	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			C|0.913;T|0.087	0.087	strong		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129899543	C	T	129899543	2	4	22	1	0	0	0	0	0	0	0	1	9598	506	18	2		2	MKI67	10	129899543	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27853	129899543	5635204	5803	10911										
MKI67	4288	hgsc.bcm.edu	37	chr10	129901393	129901393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccttaggtgctcttggcTgtctcctgctgccaattaca	8	12	2	0	rs11016071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129901393T>C	ENST00000368654.3	-	13	9086	c.8711A>G	c.(8710-8712)cAg>cGg	p.Q2904R	MKI67_ENST00000368653.3_Missense_Mutation_p.Q2544R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2904	16 X 122 AA approximate repeats.		Q -> R (in dbSNP:rs11016071).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTCTTGGCTGTCTCCTGCT	0.537													C|||	1169	0.233427	0.3442	0.2291	5008	,	,		18105	0.2619		0.1571	False		,,,				2504	0.136				p.Q2904R		Atlas-SNP	.											.	MKI67	363	.	0			c.A8711G						PASS	.	C	ARG/GLN,ARG/GLN	1370,3036	690.7+/-405.3	209,952,1042	162	160	161		7631,8711	-7.3	0	10	dbSNP_120	161	1493,7107	749.0+/-407.4	138,1217,2945	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	43,43	347,2169,3987	CC,CT,TT		17.3605,31.094,22.0129	benign,benign	2544/2897,2904/3257	129901393	2863,10143	2203	4300	6503	SO:0001583	missense	4288	exon13			CTTGGCTGTCTCC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8711A>G	10.37:g.129901393T>C	ENSP00000357643:p.Gln2904Arg	Somatic	234	1	0.0042735		WXS	Illumina HiSeq	Phase_I	260	115	0.442308	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	488	0.22344322344322345	147	0.29878048780487804	68	0.1878453038674033	150	0.26223776223776224	123	0.16226912928759896	C	0.157	-1.084907	0.01888	0.31094	0.173605	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	4.28	-7.32	0.01436	.	.	.	.	.	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.48547	-0.9026	8	0.13470	T	0.59	.	7.3884	0.26895	0.2543:0.1277:0.0:0.6179	rs11016071;rs52808796;rs59734042;rs11016071	2903;2544;2904	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2904;2544;2903	ENSP00000357643:Q2904R;ENSP00000357642:Q2544R	ENSP00000357642:Q2544R	Q	-	2	0	MKI67	129791383	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.024000	0.03603	-2.219000	0.00729	-1.082000	0.02213	CAG	T|0.781;C|0.219	0.219	strong		0.537	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129901393	T	C	129901393	3	2	22	1	0	0	0	0	1	0	0	0	9598	1580	55	3	1071	3	MKI67	10	129901393	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1850	129901393	5633354	5804	10912										
MKI67	4288	hgsc.bcm.edu	37	chr10	129901722	129901722	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaggtcttctatggcttgGgcactttccctgggtgctct					rs10082432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129901722G>A	ENST00000368654.3	-	13	8757	c.8382C>T	c.(8380-8382)gcC>gcT	p.A2794A	MKI67_ENST00000368653.3_Silent_p.A2434A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2794	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTATGGCTTGGGCACTTTCCC	0.493													G|||	1162	0.232029	0.3404	0.2277	5008	,	,		17212	0.2599		0.1581	False		,,,				2504	0.136				p.A2794A		Atlas-SNP	.											.	MKI67	363	.	0			c.C8382T						PASS	.	G	,	1359,3047	450.8+/-349.5	207,945,1051	94	89	91		7302,8382	-5.2	0	10	dbSNP_119	91	1489,7111	282.0+/-295.3	136,1217,2947	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	343,2162,3998	AA,AG,GG		17.314,30.8443,21.8976	,	2434/2897,2794/3257	129901722	2848,10158	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			GGCTTGGGCACTT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8382C>T	10.37:g.129901722G>A		Somatic	281	1	0.00355872		WXS	Illumina HiSeq	Phase_I	238	106	0.445378	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			G|0.782;A|0.218	0.218	strong		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129901722	G	A	129901722	2	1	22	1	0	0	0	0	0	0	0	1	9598	1219	43	2		2	MKI67	10	129901722	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	329	129901722	5633025	5805	10913	219	2								
MKI67	4288	hgsc.bcm.edu	37	chr10	129901726	129901726	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcttctatggcttgggcaCtttccctgggtgctcttggc					rs10082533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129901726C>T	ENST00000368654.3	-	13	8753	c.8378G>A	c.(8377-8379)aGt>aAt	p.S2793N	MKI67_ENST00000368653.3_Missense_Mutation_p.S2433N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2793	16 X 122 AA approximate repeats.		S -> N (in dbSNP:rs10082533).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTTGGGCACTTTCCCTGGG	0.493													T|||	1163	0.232228	0.3404	0.2277	5008	,	,		16851	0.2599		0.1581	False		,,,				2504	0.137				p.S2793N		Atlas-SNP	.											.	MKI67	363	.	0			c.G8378A						PASS	.	T	ASN/SER,ASN/SER	1359,3047	690.3+/-405.2	207,945,1051	93	88	90		7298,8378	-0.3	0	10	dbSNP_119	90	1489,7111	747.2+/-407.3	137,1215,2948	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	46,46	344,2160,3999	TT,TC,CC		17.314,30.8443,21.8976	benign,benign	2433/2897,2793/3257	129901726	2848,10158	2203	4300	6503	SO:0001583	missense	4288	exon13			TGGGCACTTTCCC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8378G>A	10.37:g.129901726C>T	ENSP00000357643:p.Ser2793Asn	Somatic	289	1	0.00346021		WXS	Illumina HiSeq	Phase_I	232	103	0.443966	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	489	0.2239010989010989	147	0.29878048780487804	68	0.1878453038674033	150	0.26223776223776224	124	0.16358839050131926	T	3.636	-0.074525	0.07184	0.308443	0.17314	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.93	-0.274	0.12910	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36841	-0.9731	8	0.17832	T	0.49	.	4.2767	0.10813	0.0:0.365:0.1847:0.4503	rs10082533;rs59377110	2792;2433;2793	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2793;2433;2792	ENSP00000357643:S2793N;ENSP00000357642:S2433N	ENSP00000357642:S2433N	S	-	2	0	MKI67	129791716	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	-0.437000	0.07243	-0.982000	0.02568	AGT	C|0.784;T|0.216	0.216	strong		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129901726	C	T	129901726	3	4	22	1	0	0	0	0	1	0	0	0	9598	565	20	2	1404	2	MKI67	10	129901726	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	129901726	5633021	5806	10914	219	2								
MKI67	4288	hgsc.bcm.edu	37	chr10	129901825	129901825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatgctttgatgcctttaTcttcacctgctggttctttg	7	10	4	1	rs10082391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129901825T>C	ENST00000368654.3	-	13	8654	c.8279A>G	c.(8278-8280)gAt>gGt	p.D2760G	MKI67_ENST00000368653.3_Missense_Mutation_p.D2400G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2760	16 X 122 AA approximate repeats.		D -> G (in dbSNP:rs10082391).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATGCCTTTATCTTCACCTGC	0.498													T|||	1162	0.232029	0.3404	0.2277	5008	,	,		21174	0.2599		0.1571	False		,,,				2504	0.137				p.D2760G		Atlas-SNP	.											.	MKI67	363	.	0			c.A8279G						PASS	.	T	GLY/ASP,GLY/ASP	1359,3047	452.0+/-349.9	207,945,1051	169	150	157		7199,8279	-2.4	0	10	dbSNP_119	157	1493,7107	283.5+/-296.1	137,1219,2944	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	94,94	344,2164,3995	CC,CT,TT		17.3605,30.8443,21.9283	possibly-damaging,possibly-damaging	2400/2897,2760/3257	129901825	2852,10154	2203	4300	6503	SO:0001583	missense	4288	exon13			CCTTTATCTTCAC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8279A>G	10.37:g.129901825T>C	ENSP00000357643:p.Asp2760Gly	Somatic	347	1	0.00288184		WXS	Illumina HiSeq	Phase_I	380	190	0.5	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	488	0.22344322344322345	147	0.29878048780487804	68	0.1878453038674033	150	0.26223776223776224	123	0.16226912928759896	T	12.16	1.856009	0.32791	0.308443	0.173605	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.34	-2.42	0.06542	.	.	.	.	.	T	0.00012	0.0000	N	0.10874	0.06	0.80722	P	0.0	P;D;P	0.61697	0.928;0.99;0.845	P;P;P	0.53102	0.588;0.718;0.58	T	0.48547	-0.9026	8	0.27082	T	0.32	.	4.821	0.13390	0.0:0.5127:0.2059:0.2814	rs10082391;rs52833203;rs60789844;rs10082391	2759;2400;2760	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	2760;2400;2759	ENSP00000357643:D2760G;ENSP00000357642:D2400G	ENSP00000357642:D2400G	D	-	2	0	MKI67	129791815	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.206000	0.17375	-0.615000	0.05679	-0.256000	0.11100	GAT	A|0.005;C|0.218	0.218	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129901825	T	C	129901825	3	2	22	1	0	0	0	0	1	0	0	0	9598	1435	50	2	1503	2	MKI67	10	129901825	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99	129901825	5632922	5807	10915										
MKI67	4288	hgsc.bcm.edu	37	chr10	129901946	129901946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcctgagatgcctctttgTgcttgctgtggtgtctacca	11	10	2	1	rs1050767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129901946T>G	ENST00000368654.3	-	13	8533	c.8158A>C	c.(8158-8160)Aca>Cca	p.T2720P	MKI67_ENST00000368653.3_Missense_Mutation_p.T2360P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2720	16 X 122 AA approximate repeats.		T -> P (in dbSNP:rs1050767).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCTCTTTGTGCTTGCTGTG	0.488													T|||	1113	0.222244	0.3056	0.2233	5008	,	,		21121	0.2599		0.1571	False		,,,				2504	0.137				p.T2720P		Atlas-SNP	.											MKI67,NS,carcinoma,+2,1	MKI67	363	1	0			c.A8158C						scavenged	.	T	PRO/THR,PRO/THR	1190,3216	416.7+/-337.7	157,876,1170	122	113	116		7078,8158	-0.4	0	10	dbSNP_86	116	1489,7111	282.8+/-295.8	137,1215,2948	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	38,38	294,2091,4118	GG,GT,TT		17.314,27.0086,20.5982	possibly-damaging,possibly-damaging	2360/2897,2720/3257	129901946	2679,10327	2203	4300	6503	SO:0001583	missense	4288	exon13			TCTTTGTGCTTGC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8158A>C	10.37:g.129901946T>G	ENSP00000357643:p.Thr2720Pro	Somatic	231	2	0.00865801		WXS	Illumina HiSeq	Phase_I	255	111	0.435294	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	466	0.21336996336996336	127	0.258130081300813	66	0.18232044198895028	150	0.26223776223776224	123	0.16226912928759896	T	12.94	2.087836	0.36855	0.270086	0.17314	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02682	4.2;4.2	3.71	-0.381	0.12485	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	P;D;D	0.62365	0.952;0.991;0.985	P;P;P	0.57057	0.529;0.791;0.812	T	0.51458	-0.8703	8	0.30854	T	0.27	.	3.2228	0.06721	0.4951:0.1273:0.0:0.3777	rs1050767;rs52803075;rs61581411;rs1050767	2719;2360;2720	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	2720;2360;2719	ENSP00000357643:T2720P;ENSP00000357642:T2360P	ENSP00000357642:T2360P	T	-	1	0	MKI67	129791936	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.422000	0.07043	-0.169000	0.10834	0.533000	0.62120	ACA	T|0.794;G|0.206	0.206	strong		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129901946	T	G	129901946	3	3	22	1	0	0	0	0	1	0	0	0	9598	1696	59	5	1624	5	MKI67	10	129901946	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	121	129901946	5632801	5808	10916										
MKI67	4288	hgsc.bcm.edu	37	chr10	129903592	129903592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctaccagttacacttgctGctgggtccagtttctgtttt	9	10	1	0	rs45549235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129903592G>A	ENST00000368654.3	-	13	6887	c.6512C>T	c.(6511-6513)gCa>gTa	p.A2171V	MKI67_ENST00000368653.3_Missense_Mutation_p.A1811V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2171	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TACACTTGCTGCTGGGTCCAG	0.498													G|||	365	0.0728834	0.0303	0.0029	5008	,	,		19867	0.1558		0.0169	False		,,,				2504	0.1524				p.A2171V		Atlas-SNP	.											.	MKI67	363	.	0			c.C6512T						PASS	.	G	VAL/ALA,VAL/ALA	111,4295	86.3+/-125.0	0,111,2092	162	150	154		5432,6512	-4.9	0	10	dbSNP_127	154	80,8520	47.2+/-106.3	2,76,4222	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	64,64	2,187,6314	AA,AG,GG		0.9302,2.5193,1.4686	possibly-damaging,possibly-damaging	1811/2897,2171/3257	129903592	191,12815	2203	4300	6503	SO:0001583	missense	4288	exon13			CTTGCTGCTGGGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6512C>T	10.37:g.129903592G>A	ENSP00000357643:p.Ala2171Val	Somatic	507	2	0.00394477		WXS	Illumina HiSeq	Phase_I	466	227	0.487124	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	124	0.056776556776556776	11	0.022357723577235773	0	0.0	96	0.16783216783216784	17	0.022427440633245383	G	12.58	1.982018	0.34942	0.025193	0.009302	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02280	4.36;4.36	4.79	-4.89	0.03103	.	2.259380	0.02081	N	0.052303	T	0.00012	0.0000	L	0.31845	0.965	0.80722	P	0.0	P;P;D	0.61080	0.582;0.708;0.989	B;B;P	0.62298	0.208;0.227;0.9	T	0.37911	-0.9685	9	0.27082	T	0.32	.	1.6494	0.02768	0.2213:0.1286:0.1356:0.5145	rs45549235	2170;1811;2171	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2171;1811;2170	ENSP00000357643:A2171V;ENSP00000357642:A1811V	ENSP00000357642:A1811V	A	-	2	0	MKI67	129793582	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.011000	0.13264	-0.713000	0.04981	-0.258000	0.10820	GCA	G|0.973;A|0.027	0.027	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129903592	G	A	129903592	3	1	22	1	0	0	0	0	1	0	0	0	9598	1319	46	2	3270	2	MKI67	10	129903592	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1646	129903592	5631155	5809	10917										
MKI67	4288	hgsc.bcm.edu	37	chr10	129904474	129904474	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcttgaggcttctcttgGgccgttgctttgtgtttgtt					rs61738284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129904474G>A	ENST00000368654.3	-	13	6005	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L	MKI67_ENST00000368653.3_Missense_Mutation_p.P1517L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1877	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTTCTCTTGGGCCGTTGCTT	0.468													G|||	515	0.102835	0.0666	0.1556	5008	,	,		20450	0.1359		0.0785	False		,,,				2504	0.1053				p.P1877L		Atlas-SNP	.											.	MKI67	363	.	0			c.C5630T						PASS	.	G	LEU/PRO,LEU/PRO	295,4111	161.8+/-193.9	11,273,1919	257	262	260		4550,5630	-4	0	10	dbSNP_129	260	771,7829	183.7+/-231.9	39,693,3568	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	98,98	50,966,5487	AA,AG,GG		8.9651,6.6954,8.1962	probably-damaging,probably-damaging	1517/2897,1877/3257	129904474	1066,11940	2203	4300	6503	SO:0001583	missense	4288	exon13			CTCTTGGGCCGTT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5630C>T	10.37:g.129904474G>A	ENSP00000357643:p.Pro1877Leu	Somatic	432	1	0.00231481		WXS	Illumina HiSeq	Phase_I	448	226	0.504464	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	209	0.09569597069597069	33	0.06707317073170732	39	0.10773480662983426	79	0.1381118881118881	58	0.07651715039577836	G	7.574	0.667296	0.14710	0.066954	0.089651	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02158	4.42;4.42	3.01	-4.0	0.04057	.	2.514200	0.02262	N	0.067604	T	0.00012	0.0000	N	0.17800	0.525	0.80722	P	0.0	B;B;B	0.29232	0.008;0.118;0.238	B;B;B	0.33890	0.014;0.172;0.085	T	0.43114	-0.9411	9	0.25106	T	0.35	.	4.3421	0.11115	0.3141:0.3137:0.3722:0.0	rs61738284	1876;1517;1877	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1877;1517;1876	ENSP00000357643:P1877L;ENSP00000357642:P1517L	ENSP00000357642:P1517L	P	-	2	0	MKI67	129794464	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-1.098000	0.03038	-0.291000	0.09656	CCC	G|0.915;A|0.085	0.085	strong		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129904474	G	A	129904474	3	1	22	1	0	0	0	0	1	0	0	0	9598	1232	43	2	4152	2	MKI67	10	129904474	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	882	129904474	5630273	5810	10918	220	2								
MKI67	4288	hgsc.bcm.edu	37	chr10	129904477	129904477	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgaggcttctcttgggcCgttgctttgtgtttgttggg					rs11591817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129904477C>T	ENST00000368654.3	-	13	6002	c.5627G>A	c.(5626-5628)cGg>cAg	p.R1876Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1516Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1876	16 X 122 AA approximate repeats.		R -> Q (in dbSNP:rs11591817).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCTTGGGCCGTTGCTTTGT	0.468													C|||	1114	0.222444	0.3056	0.2233	5008	,	,		20557	0.2609		0.1571	False		,,,				2504	0.137				p.R1876Q		Atlas-SNP	.											.	MKI67	363	.	0			c.G5627A						PASS	.	C	GLN/ARG,GLN/ARG	1187,3219	416.5+/-337.6	157,873,1173	258	264	262		4547,5627	-4.3	0	10	dbSNP_120	262	1489,7111	283.1+/-295.9	137,1215,2948	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	43,43	294,2088,4121	TT,TC,CC		17.314,26.9405,20.5751	probably-damaging,probably-damaging	1516/2897,1876/3257	129904477	2676,10330	2203	4300	6503	SO:0001583	missense	4288	exon13			TTGGGCCGTTGCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5627G>A	10.37:g.129904477C>T	ENSP00000357643:p.Arg1876Gln	Somatic	439	1	0.0022779		WXS	Illumina HiSeq	Phase_I	447	228	0.510067	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	466	0.21336996336996336	127	0.258130081300813	66	0.18232044198895028	150	0.26223776223776224	123	0.16226912928759896	C	12.64	1.999002	0.35226	0.269405	0.17314	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01963	4.53;4.53	2.66	-4.27	0.03744	.	2.427910	0.02422	N	0.082631	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;P;D	0.89917	0.019;0.493;1.0	B;B;D	0.66716	0.006;0.05;0.946	T	0.48559	-0.9025	9	0.13470	T	0.59	.	0.5944	0.00733	0.172:0.2647:0.1738:0.3895	rs11591817;rs52809288;rs58668910	1875;1516;1876	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1876;1516;1875	ENSP00000357643:R1876Q;ENSP00000357642:R1516Q	ENSP00000357642:R1516Q	R	-	2	0	MKI67	129794467	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.628000	0.00206	-0.537000	0.06290	-0.367000	0.07326	CGG	C|0.798;T|0.202	0.202	strong		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129904477	C	T	129904477	3	4	22	1	0	0	0	0	1	0	0	0	9598	652	23	1	4155	1	MKI67	10	129904477	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	129904477	5630270	5811	10919	220	2								
MKI67	4288	hgsc.bcm.edu	37	chr10	129905429	129905429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaggtccagtttctgcaCtggagttcccataaatgcgt	10	10	2	0	rs7918199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129905429C>T	ENST00000368654.3	-	13	5050	c.4675G>A	c.(4675-4677)Gtg>Atg	p.V1559M	MKI67_ENST00000368653.3_Missense_Mutation_p.V1199M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1559	16 X 122 AA approximate repeats.		V -> M (in dbSNP:rs7918199).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.V1559M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTGCACTGGAGTTCCC	0.498													C|||	515	0.102835	0.0666	0.1556	5008	,	,		20762	0.1359		0.0785	False		,,,				2504	0.1053				p.V1559M		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - Missense(1)	stomach(1)	c.G4675A						PASS	.	C	MET/VAL,MET/VAL	296,4110	162.5+/-194.5	11,274,1918	278	249	259		3595,4675	-2	0	10	dbSNP_116	259	771,7829	183.7+/-231.9	39,693,3568	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	21,21	50,967,5486	TT,TC,CC		8.9651,6.7181,8.2039	possibly-damaging,possibly-damaging	1199/2897,1559/3257	129905429	1067,11939	2203	4300	6503	SO:0001583	missense	4288	exon13			TCTGCACTGGAGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4675G>A	10.37:g.129905429C>T	ENSP00000357643:p.Val1559Met	Somatic	394	0	0		WXS	Illumina HiSeq	Phase_I	369	186	0.504065	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	209	0.09569597069597069	33	0.06707317073170732	39	0.10773480662983426	79	0.1381118881118881	58	0.07651715039577836	C	10.76	1.440781	0.25900	0.067181	0.089651	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02258	4.37;4.37	4.21	-1.95	0.07548	.	1.347280	0.05153	N	0.496442	T	0.00039	0.0001	L	0.44542	1.39	0.80722	P	0.0	B;P;P	0.48503	0.128;0.911;0.56	B;P;B	0.49953	0.033;0.627;0.446	T	0.42464	-0.9450	9	0.46703	T	0.11	.	9.7412	0.40420	0.0:0.5379:0.0:0.4621	rs7918199;rs52813597;rs60630618;rs7918199	1558;1199;1559	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1559;1199;1558	ENSP00000357643:V1559M;ENSP00000357642:V1199M	ENSP00000357642:V1199M	V	-	1	0	MKI67	129795419	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.562000	0.00920	-0.576000	0.05974	0.462000	0.41574	GTG	C|0.914;T|0.086	0.086	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129905429	C	T	129905429	3	4	22	1	0	0	0	0	1	0	0	0	9598	565	20	2	5107	2	MKI67	10	129905429	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	952	129905429	5629318	5812	10920										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906364	129906364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtcgcagggtattttaGtggttttaccagcagccact	12	8	0	1	rs4750685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129906364G>A	ENST00000368654.3	-	13	4115	c.3740C>T	c.(3739-3741)aCt>aTt	p.T1247I	MKI67_ENST00000368653.3_Missense_Mutation_p.T887I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1247	16 X 122 AA approximate repeats.		T -> I (in dbSNP:rs4750685).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T1247I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGTATTTTAGTGGTTTTACC	0.512													G|||	515	0.102835	0.0666	0.1556	5008	,	,		18082	0.1359		0.0785	False		,,,				2504	0.1053				p.T1247I		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - Missense(1)	stomach(1)	c.C3740T						scavenged	.	G	ILE/THR,ILE/THR	295,4111	161.4+/-193.6	11,273,1919	105	108	107		2660,3740	1	0	10	dbSNP_111	107	771,7829	183.5+/-231.7	39,693,3568	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	89,89	50,966,5487	AA,AG,GG		8.9651,6.6954,8.1962	possibly-damaging,possibly-damaging	887/2897,1247/3257	129906364	1066,11940	2203	4300	6503	SO:0001583	missense	4288	exon13			ATTTTAGTGGTTT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3740C>T	10.37:g.129906364G>A	ENSP00000357643:p.Thr1247Ile	Somatic	289	2	0.00692042		WXS	Illumina HiSeq	Phase_I	272	121	0.444853	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	209	0.09569597069597069	33	0.06707317073170732	39	0.10773480662983426	79	0.1381118881118881	58	0.07651715039577836	G	12.96	2.093039	0.36952	0.066954	0.089651	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	3.0	1.05	0.20165	.	0.914623	0.08986	N	0.865071	T	0.00073	0.0002	M	0.65975	2.015	0.80722	P	0.0	P;D;D	0.89917	0.936;1.0;0.997	P;D;D	0.79108	0.559;0.992;0.939	T	0.31280	-0.9949	9	0.32370	T	0.25	.	4.5988	0.12343	0.4006:0.0:0.5994:0.0	rs4750685;rs52820823;rs57830646;rs4750685	1246;887;1247	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	1247;887;1246	ENSP00000357643:T1247I;ENSP00000357642:T887I	ENSP00000357642:T887I	T	-	2	0	MKI67	129796354	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.535000	0.23114	0.583000	0.29574	0.456000	0.33151	ACT	G|0.915;A|0.085	0.085	strong		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129906364	G	A	129906364	3	1	22	1	0	0	0	0	1	0	0	0	9598	1029	36	2	6042	2	MKI67	10	129906364	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	935	129906364	5628383	5813	10921										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906468	129906468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccttttccttaggagtCtgtagctgtcttttgctgcc	11	10	2	0	rs4750936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129906468C>T	ENST00000368654.3	-	13	4011	c.3636G>A	c.(3634-3636)caG>caA	p.Q1212Q	MKI67_ENST00000368653.3_Silent_p.Q852Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1212	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTTAGGAGTCTGTAGCTGTC	0.493													T|||	1164	0.232428	0.3419	0.2277	5008	,	,		19866	0.2609		0.1571	False		,,,				2504	0.136				p.Q1212Q		Atlas-SNP	.											.	MKI67	363	.	0			c.G3636A						PASS	.	T	,	1357,3049	692.1+/-405.5	206,945,1052	138	135	136		2556,3636	-2.9	0	10	dbSNP_111	136	1491,7109	749.1+/-407.4	137,1217,2946	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	343,2162,3998	TT,TC,CC		17.3372,30.7989,21.8976	,	852/2897,1212/3257	129906468	2848,10158	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			AGGAGTCTGTAGC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3636G>A	10.37:g.129906468C>T		Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	325	158	0.486154	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			C|0.782;T|0.218	0.218	strong		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129906468	C	T	129906468	2	4	22	1	0	0	0	0	0	0	0	1	9598	912	32	2		2	MKI67	10	129906468	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104	129906468	5628279	5814	10922										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906903	129906903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttggagactccttaaaCgttctgatgctcttgccatc	8	11	2	2	rs3740424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129906903C>T	ENST00000368654.3	-	13	3576	c.3201G>A	c.(3199-3201)acG>acA	p.T1067T	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.T707T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1067	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTCCTTAAACGTTCTGATGC	0.547													C|||	360	0.071885	0.031	0.0029	5008	,	,		19029	0.1548		0.0149	False		,,,				2504	0.1493				p.T1067T		Atlas-SNP	.											.	MKI67	363	.	0			c.G3201A						PASS	.	C	,	111,4295	86.3+/-125.0	0,111,2092	232	209	217		2121,3201	-3.4	0	10	dbSNP_107	217	65,8535	40.3+/-97.0	1,63,4236	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	1,174,6328	TT,TC,CC		0.7558,2.5193,1.3532	,	707/2897,1067/3257	129906903	176,12830	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			CTTAAACGTTCTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3201G>A	10.37:g.129906903C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	223	107	0.479821	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			C|0.970;T|0.030	0.030	strong		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129906903	C	T	129906903	2	4	22	1	0	0	0	0	0	0	0	1	9598	523	19	1		1	MKI67	10	129906903	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	435	129906903	5627844	5815	10923										
MKI67	4288	hgsc.bcm.edu	37	chr10	129907544	129907544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgaagtttttgtctccaGagaagtcattttgtaggtgt	10	5	3	2	rs2240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129907544G>C	ENST00000368654.3	-	13	2935	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.L494V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	854			L -> V (in dbSNP:rs2240).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTCTCCAGAGAAGTCATT	0.428													C|||	1166	0.232827	0.3427	0.2291	5008	,	,		18353	0.2609		0.1571	False		,,,				2504	0.136				p.L854V		Atlas-SNP	.											.	MKI67	363	.	0			c.C2560G						PASS	.	C	VAL/LEU,VAL/LEU	1363,3043	691.3+/-405.4	207,949,1047	215	207	210		1480,2560	-2.7	0	10	dbSNP_36	210	1493,7107	749.0+/-407.4	137,1219,2944	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	32,32	344,2168,3991	CC,CG,GG		17.3605,30.9351,21.9591	benign,benign	494/2897,854/3257	129907544	2856,10150	2203	4300	6503	SO:0001583	missense	4288	exon13			TCTCCAGAGAAGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2560C>G	10.37:g.129907544G>C	ENSP00000357643:p.Leu854Val	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	375	156	0.416	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	488	0.22344322344322345	147	0.29878048780487804	68	0.1878453038674033	150	0.26223776223776224	123	0.16226912928759896	C	0.010	-1.790947	0.00623	0.309351	0.173605	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01369	5.02;4.97	3.48	-2.73	0.05950	.	1.865620	0.03587	N	0.231244	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45440	-0.9261	9	0.27785	T	0.31	.	1.125	0.01732	0.1886:0.2259:0.3634:0.2221	rs2240;rs52809582;rs2240	853;494;854	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	854;494;853	ENSP00000357643:L854V;ENSP00000357642:L494V	ENSP00000357642:L494V	L	-	1	2	MKI67	129797534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.747000	0.01827	-1.216000	0.02607	-0.215000	0.12644	CTG	G|0.776;C|0.224	0.224	strong		0.428	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129907544	G	C	129907544	3	2	22	1	0	0	0	0	1	0	0	0	9598	933	33	4	7222	4	MKI67	10	129907544	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	641	129907544	5627203	5816	10924										
MKI67	4288	hgsc.bcm.edu	37	chr10	129910475	129910475	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatgttgacttcggctgaTagacactctctttgaaggca	9	9	2	4	rs997983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129910475T>G	ENST00000368654.3	-	9	2266	c.1891A>C	c.(1891-1893)Atc>Ctc	p.I631L	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.I271L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	631			I -> L (in dbSNP:rs997983).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.I631V(1)|p.I631L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCGGCTGATAGACACTCTC	0.443													T|||	553	0.110423	0.093	0.1585	5008	,	,		20495	0.1359		0.0795	False		,,,				2504	0.1053				p.I631L		Atlas-SNP	.											MKI67,rectum,carcinoma,0,2	MKI67	363	2	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.A1891C						PASS	.	T	LEU/ILE,LEU/ILE	412,3994	203.5+/-225.9	22,368,1813	112	100	104		811,1891	-8.1	0	10	dbSNP_86	104	777,7823	184.6+/-232.5	39,699,3562	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	5,5	61,1067,5375	GG,GT,TT		9.0349,9.3509,9.1419	benign,benign	271/2897,631/3257	129910475	1189,11817	2203	4300	6503	SO:0001583	missense	4288	exon9			GGCTGATAGACAC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1891A>C	10.37:g.129910475T>G	ENSP00000357643:p.Ile631Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	98	41	0.418367	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	220	0.10073260073260074	43	0.08739837398373984	40	0.11049723756906077	79	0.1381118881118881	58	0.07651715039577836	T	7.470	0.646557	0.14451	0.093509	0.090349	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01246	5.14;5.11	4.03	-8.06	0.01102	.	0.788319	0.11269	N	0.581682	T	0.00012	0.0000	N	0.13043	0.29	0.80722	P	0.0	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.002	T	0.44726	-0.9309	9	0.25106	T	0.35	.	1.3818	0.02232	0.1695:0.3373:0.2008:0.2923	rs997983;rs17731527;rs52826393;rs58983470;rs997983	630;271;631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	631;271;630;206	ENSP00000357643:I631L;ENSP00000357642:I271L	ENSP00000357641:I206L	I	-	1	0	MKI67	129800465	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.743000	0.04845	-2.155000	0.00791	-0.291000	0.09656	ATC	T|0.906;G|0.094	0.094	strong		0.443	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129910475	T	G	129910475	3	3	22	1	0	0	0	0	1	0	0	0	9598	1406	49	5	7907	5	MKI67	10	129910475	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2931	129910475	5624272	5817	10925										
MKI67	4288	hgsc.bcm.edu	37	chr10	129913960	129913960	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgactcataaagcttccAaaagggagattcattttttt	6	8	2	2	rs7095325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129913960A>T	ENST00000368654.3	-	7	1087	c.712T>A	c.(712-714)Tgg>Agg	p.W238R	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	238			W -> R (in dbSNP:rs7095325).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAAAGCTTCCAAAAGGGAGAT	0.348													T|||	1269	0.253395	0.3026	0.2522	5008	,	,		21557	0.247		0.2455	False		,,,				2504	0.2025				p.W238R		Atlas-SNP	.											.	MKI67	363	.	0			c.T712A						PASS	.	T	,ARG/TRP	1385,3021	687.4+/-404.8	218,949,1036	70	68	69		,712	-0.7	0	10	dbSNP_116	69	2140,6460	713.8+/-406.0	280,1580,2440	yes	intron,missense	MKI67	NM_001145966.1,NM_002417.4	,101	498,2529,3476	TT,TA,AA		24.8837,31.4344,27.1029	,benign	,238/3257	129913960	3525,9481	2203	4300	6503	SO:0001583	missense	4288	exon7			GCTTCCAAAAGGG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.712T>A	10.37:g.129913960A>T	ENSP00000357643:p.Trp238Arg	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	42	19	0.452381	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	531	0.24313186813186813	126	0.25609756097560976	75	0.20718232044198895	144	0.2517482517482518	186	0.24538258575197888	T	0.147	-1.095509	0.01858	0.314344	0.248837	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.20069	2.1	3.69	-0.736	0.11133	.	0.696409	0.13509	N	0.382650	T	0.00012	0.0000	N	0.01576	-0.805	0.30494	P	0.7710440000000001	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	8	.	.	.	.	1.3191	0.02113	0.1504:0.1432:0.3532:0.3531	rs7095325;rs52812070;rs57013021;rs7095325	238	P46013	KI67_HUMAN	R	238	ENSP00000357643:W238R	.	W	-	1	0	MKI67	129803950	0.838000	0.29461	0.022000	0.16811	0.971000	0.66376	0.172000	0.16704	-0.415000	0.07484	-0.257000	0.10917	TGG	A|0.739;T|0.261	0.261	strong		0.348	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129913960	A	T	129913960	3	4	22	1	0	0	0	0	1	0	0	0	9598	130	5	5	9094	5	MKI67	10	129913960	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3485	129913960	5620787	5818	10926										
MKI67	4288	hgsc.bcm.edu	37	chr10	129921195	129921195	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccatgttttagccgtacAggctcatcaataacagaccc	6	13	3	1	rs1063536	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:129921195A>T	ENST00000368654.3	-	4	612	c.237T>A	c.(235-237)ccT>ccA	p.P79P	MKI67_ENST00000368653.3_Silent_p.P79P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	79					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P79P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTAGCCGTACAGGCTCATCAA	0.353													A|||	619	0.123602	0.1641	0.1441	5008	,	,		20270	0.122		0.0875	False		,,,				2504	0.093				p.P79P		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - coding silent(1)	stomach(1)	c.T237A						PASS	.	A	,	647,3759	277.2+/-273.6	42,563,1598	144	135	138		237,237	-5.6	0	10	dbSNP_86	138	669,7931	169.3+/-220.7	28,613,3659	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	70,1176,5257	TT,TA,AA		7.7791,14.6845,10.1184	,	79/2897,79/3257	129921195	1316,11690	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon4			CCGTACAGGCTCA	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.237T>A	10.37:g.129921195A>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	161	80	0.496894	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			A|0.894;T|0.106	0.106	strong		0.353	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129921195	A	T	129921195	2	4	22	1	0	0	0	0	0	0	0	1	9598	175	7	5		5	MKI67	10	129921195	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7235	129921195	5613552	5819	10927										
JAKMIP3	282973	hgsc.bcm.edu	37	chr10	133918372	133918372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcagaggccctcgcggcGctgcaggcggccaacgagga	17	13	0	1	rs10870252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:133918372G>A	ENST00000298622.4	+	1	198	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	20						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTCGCGGCGCTGCAGGCGG	0.667													G|||	1173	0.234225	0.3941	0.1412	5008	,	,		15314	0.2907		0.175	False		,,,				2504	0.0869				p.A20A		Atlas-SNP	.											.	JAKMIP3	69	.	0			c.G60A						PASS	.	G		1332,2794		223,886,954	17	23	21		60	-7.6	0	10	dbSNP_120	21	1493,6905		139,1215,2845	no	coding-synonymous	JAKMIP3	NM_001105521.2		362,2101,3799	AA,AG,GG		17.778,32.2831,22.5567		20/845	133918372	2825,9699	2063	4199	6262	SO:0001819	synonymous_variant	282973	exon1			CGCGGCGCTGCAG	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.60G>A	10.37:g.133918372G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	171	87	0.508772	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																			G|0.741;A|0.259	0.259	strong		0.667	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		A	133918372	G	A	133918372	2	1	22	1	0	0	0	0	0	0	0	1	7942	1074	38	1		1	JAKMIP3	10	133918372	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3997177	133918372	1616375	5820	10928										
DPYSL4	10570	hgsc.bcm.edu	37	chr10	134017388	134017388	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccaggcaagatctccgtCcctcctgtgcgcaacctaca	8	17	1	1	rs1052556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134017388C>G	ENST00000338492.4	+	13	1748	c.1584C>G	c.(1582-1584)gtC>gtG	p.V528V	DPYSL4_ENST00000368629.1_Silent_p.V368V|DPYSL4_ENST00000368627.1_Silent_p.V368V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	528					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AGATCTCCGTCCCTCCTGTGC	0.682													C|||	761	0.151957	0.0756	0.1153	5008	,	,		16346	0.372		0.1262	False		,,,				2504	0.0808				p.V528V		Atlas-SNP	.											.	DPYSL4	91	.	0			c.C1584G						PASS	.	C		434,3972	208.8+/-229.8	22,390,1791	98	94	95		1584	-0.6	0.3	10	dbSNP_86	95	999,7601	215.2+/-254.6	64,871,3365	no	coding-synonymous	DPYSL4	NM_006426.2		86,1261,5156	GG,GC,CC		11.6163,9.8502,11.018		528/573	134017388	1433,11573	2203	4300	6503	SO:0001819	synonymous_variant	10570	exon13			CTCCGTCCCTCCT	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1584C>G	10.37:g.134017388C>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	177	67	0.378531	NM_006426	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	CCDS7665.1																																																																																			C|0.865;G|0.135	0.135	strong		0.682	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			G	134017388	C	G	134017388	2	3	22	1	0	0	0	0	0	0	0	1	4749	842	30	4		4	DPYSL4	10	134017388	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99016	134017388	1517359	5821	10929										
STK32C	282974	hgsc.bcm.edu	37	chr10	134038817	134038817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagccggtcccgccgttgaCaaaagagtggaagatctccg	13	11	1	3	rs148669059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134038817C>T	ENST00000368622.1	-	7	826	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	STK32C_ENST00000368625.4_Missense_Mutation_p.V279I					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGCCGTTGACAAAAGAGTGG	0.627													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		18797	0.0		0.0	False		,,,				2504	0.0				p.V266I		Atlas-SNP	.											.	STK32C	61	.	0			c.G796A						PASS	.	C	ILE/VAL	38,4360	40.8+/-73.8	0,38,2161	27	30	29		796	4.5	1	10	dbSNP_134	29	2,8592	2.2+/-6.3	0,2,4295	yes	missense	STK32C	NM_173575.2	29	0,40,6456	TT,TC,CC		0.0233,0.864,0.3079	benign	266/487	134038817	40,12952	2199	4297	6496	SO:0001583	missense	282974	exon7			CGTTGACAAAAGA	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.445G>A	10.37:g.134038817C>T	ENSP00000357611:p.Val149Ile	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	102	54	0.529412	NM_173575		Missense_Mutation	SNP	ENST00000368622.1	37		.	.	.	.	.	.	.	.	.	.	C	18.26	3.583708	0.65992	0.00864	2.33E-4	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.62364	0.03;0.03;0.03	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.264823	0.24443	N	0.038493	T	0.47655	0.1457	N	0.14661	0.345	0.42125	D	0.991448	P;P;P	0.39376	0.67;0.629;0.577	P;B;B	0.50537	0.643;0.439;0.179	T	0.56962	-0.7892	10	0.46703	T	0.11	.	11.5206	0.50549	0.0:0.7538:0.2461:0.0	.	279;266;149	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	I	149;266;279	ENSP00000357611:V149I;ENSP00000298630:V266I;ENSP00000357614:V279I	ENSP00000298630:V266I	V	-	1	0	STK32C	133888807	0.991000	0.36638	0.998000	0.56505	0.753000	0.42808	2.948000	0.49066	2.059000	0.61396	0.585000	0.79938	GTC	C|0.996;T|0.004	0.004	strong		0.627	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		T	134038817	C	T	134038817	3	4	22	1	0	0	0	0	1	0	0	0	15298	478	17	2	688	2	STK32C	10	134038817	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21429	134038817	1495930	5822	10930										
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134218802	134218802	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagggcaagggagaggtGgtcaagatcccctcccgcgt	14	14	1	2	rs76160300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134218802G>T	ENST00000305233.5	+	2	857	c.798G>T	c.(796-798)gtG>gtT	p.V266V	PWWP2B_ENST00000368609.4_Silent_p.V266V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	266										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGGGAGAGGTGGTCAAGATCC	0.701													G|||	36	0.0071885	0.0272	0.0	5008	,	,		12729	0.0		0.0	False		,,,				2504	0.0				p.V266V		Atlas-SNP	.											.	PWWP2B	33	.	0			c.G798T						PASS	.	G	,	107,4271		1,105,2083	15	20	19		798,798	-1.2	1	10	dbSNP_131	19	1,8565		0,1,4282	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	1,106,6365	TT,TG,GG		0.0117,2.444,0.8344	,	266/500,266/591	134218802	108,12836	2189	4283	6472	SO:0001819	synonymous_variant	170394	exon2			AGAGGTGGTCAAG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.798G>T	10.37:g.134218802G>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	93	52	0.55914	NM_001098637	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			G|0.993;T|0.007	0.007	strong		0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134218802	G	T	134218802	2	4	22	1	0	0	0	0	0	0	0	1	12846	1335	47	4		4	PWWP2B	10	134218802	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	179985	134218802	1315945	5823	10931										
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219291	134219291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcagcgacagcctggaCgaggccagatcgtccggctc	14	14	0	1	rs139452616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134219291C>T	ENST00000305233.5	+	2	1346	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PWWP2B_ENST00000368609.4_Silent_p.D429D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	429										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ACAGCCTGGACGAGGCCAGAT	0.697													C|||	57	0.0113818	0.0393	0.0058	5008	,	,		15963	0.0		0.001	False		,,,				2504	0.0				p.D429D		Atlas-SNP	.											.	PWWP2B	33	.	0			c.C1287T						PASS	.	C	,	156,4234	103.4+/-141.9	3,150,2042	30	29	29		1287,1287	-7.2	0.1	10	dbSNP_134	29	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	3,152,6338	TT,TC,CC		0.0233,3.5535,1.2167	,	429/500,429/591	134219291	158,12828	2195	4298	6493	SO:0001819	synonymous_variant	170394	exon2			CCTGGACGAGGCC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1287C>T	10.37:g.134219291C>T		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	17	12	0.705882	NM_001098637	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.986;T|0.014	0.014	strong		0.697	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219291	C	T	134219291	2	4	22	1	0	0	0	0	0	0	0	1	12846	535	19	1		1	PWWP2B	10	134219291	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	489	134219291	1315456	5824	10932										
C10orf93	54777	hgsc.bcm.edu	37	chr10	134748281	134748281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcactgatagagggaaagcGctggtggttgtaatgaccta	13	6	1	3	rs74460040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134748281G>A	ENST00000368586.5	-	8	941	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TTC40_ENST00000368582.2_Missense_Mutation_p.R281C|TTC40_ENST00000368585.3_Missense_Mutation_p.R281C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GAGGGAAAGCGCTGGTGGTTG	0.378													G|||	134	0.0267572	0.0613	0.0346	5008	,	,		18945	0.0		0.0268	False		,,,				2504	0.002				p.R281C		Atlas-SNP	.											.	TTC40	100	.	0			c.C841T						PASS	.	G	CYS/ARG	195,4211	124.1+/-161.4	5,185,2013	98	93	95		841	1	0	10	dbSNP_131	95	148,8452	72.3+/-134.9	1,146,4153	yes	missense	C10orf93	NM_173572.3	180	6,331,6166	AA,AG,GG		1.7209,4.4258,2.6372	probably-damaging	281/406	134748281	343,12663	2203	4300	6503	SO:0001583	missense	54777	exon8			GAAAGCGCTGGTG																												ENST00000368586.5:c.841C>T	10.37:g.134748281G>A	ENSP00000357575:p.Arg281Cys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	41	22	0.536585	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	52	0.023809523809523808	24	0.04878048780487805	13	0.03591160220994475	0	0.0	15	0.01978891820580475	G	14.76	2.631822	0.46944	0.044258	0.017209	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.55588	0.51;0.51;0.51	4.08	0.967	0.19674	.	0.829047	0.10271	N	0.694809	T	0.14700	0.0355	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	P	0.53649	0.731	T	0.11446	-1.0587	10	0.59425	D	0.04	.	4.147	0.10220	0.1146:0.0:0.4685:0.4169	.	281	Q5SR76-1	.	C	281	ENSP00000357575:R281C;ENSP00000357571:R281C;ENSP00000357574:R281C	ENSP00000357571:R281C	R	-	1	0	C10orf93	134598271	0.007000	0.16637	0.001000	0.08648	0.208000	0.24298	0.015000	0.13355	0.385000	0.24970	0.609000	0.83330	CGC	G|0.972;A|0.028	0.028	strong		0.378	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			A	134748281	G	A	134748281	3	1	22	1	0	0	0	0	1	0	0	0	1625	1087	38	1	384	1	C10orf93	10	134748281	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	528990	134748281	786466	5825	10933										
GPR123	84435	hgsc.bcm.edu	37	chr10	134942166	134942166	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcggggcgctggcggtgtcAcagggccacttcctggacat	15	12	1	0	rs2806452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134942166A>G	ENST00000392607.3	+	7	1270	c.834A>G	c.(832-834)tcA>tcG	p.S278S	GPR123_ENST00000392606.2_Silent_p.S181S|GPR123_ENST00000607359.1_Silent_p.S997S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	278					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGCGGTGTCACAGGGCCACT	0.652													G|||	2450	0.489217	0.4826	0.621	5008	,	,		13237	0.5357		0.4145	False		,,,				2504	0.4335				p.S278S		Atlas-SNP	.											.	GPR123	118	.	0			c.A834G						PASS	.	G		2082,2306		513,1056,625	29	22	25		834	-9.5	0.1	10	dbSNP_100	25	3242,5342		623,1996,1673	no	coding-synonymous	GPR123	NM_001083909.1		1136,3052,2298	GG,GA,AA		37.7679,47.4476,41.0422		278/561	134942166	5324,7648	2194	4292	6486	SO:0001819	synonymous_variant	84435	exon7			GGTGTCACAGGGC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.834A>G	10.37:g.134942166A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_001083909	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																			A|0.559;G|0.441	0.441	strong		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			G	134942166	A	G	134942166	2	3	22	1	0	0	0	0	0	0	0	1	6637	146	6	2		2	GPR123	10	134942166	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	193885	134942166	592581	5826	10934										
GPR123	84435	hgsc.bcm.edu	37	chr10	134942832	134942832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacagctgccccacgcagccGggcagggaggcagcgctcgg	16	15	0	0	rs45586231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:134942832G>A	ENST00000392607.3	+	7	1936	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	GPR123_ENST00000392606.2_Silent_p.P403P|GPR123_ENST00000607359.1_Silent_p.P1219P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	500					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCACGCAGCCGGGCAGGGAGG	0.706													G|||	1275	0.254593	0.2648	0.2421	5008	,	,		13293	0.4454		0.0905	False		,,,				2504	0.2219				p.P500P		Atlas-SNP	.											.	GPR123	118	.	0			c.G1500A						PASS	.	G		899,3391		95,709,1341	8	8	8		1500	-7.4	0	10	dbSNP_127	8	622,7836		33,556,3640	no	coding-synonymous	GPR123	NM_001083909.1		128,1265,4981	AA,AG,GG		7.354,20.9557,11.9313		500/561	134942832	1521,11227	2145	4229	6374	SO:0001819	synonymous_variant	84435	exon7			GCAGCCGGGCAGG	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1500G>A	10.37:g.134942832G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	62	61	0.983871	NM_001083909	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																			G|0.756;A|0.244	0.244	strong		0.706	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			A	134942832	G	A	134942832	2	1	22	1	0	0	0	0	0	0	0	1	6637	1103	39	1		1	GPR123	10	134942832	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	666	134942832	591915	5827	10935										
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012583	135012583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgccggggaacgtgatgaCcagagtccagacagtgtccc	13	13	0	4	rs111276772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135012583C>A	ENST00000304613.3	+	14	2592	c.2571C>A	c.(2569-2571)gaC>gaA	p.D857E	KNDC1_ENST00000368571.2_Missense_Mutation_p.D792E|KNDC1_ENST00000368572.2_Missense_Mutation_p.D857E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	857	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACGTGATGACCAGAGTCCAG	0.741													C|||	102	0.0203674	0.0749	0.0029	5008	,	,		10501	0.0		0.001	False		,,,				2504	0.0				p.D857E		Atlas-SNP	.											.	KNDC1	155	.	0			c.C2571A						PASS	.		GLU/ASP	232,4062		3,226,1918	10	12	11		2571	-3.8	0	10	dbSNP_132	11	5,8501		0,5,4248	yes	missense	KNDC1	NM_152643.6	45	3,231,6166	AA,AC,CC		0.0588,5.4029,1.8516	benign	857/1750	135012583	237,12563	2147	4253	6400	SO:0001583	missense	85442	exon14			TGATGACCAGAGT	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2571C>A	10.37:g.135012583C>A	ENSP00000304437:p.Asp857Glu	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	C	7.348	0.622286	0.14193	0.054029	5.88E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18502	2.69;2.69;2.21	1.93	-3.85	0.04243	.	13.355300	0.01309	U	0.010560	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B;B;B	0.26195	0.144;0.002;0.106	B;B;B	0.19666	0.026;0.003;0.018	T	0.19614	-1.0300	10	0.22109	T	0.4	.	6.2917	0.21063	0.192:0.2336:0.5744:0.0	.	857;792;857	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	E	857;857;792	ENSP00000304437:D857E;ENSP00000357561:D857E;ENSP00000357560:D792E	ENSP00000304437:D857E	D	+	3	2	KNDC1	134862573	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	-0.906000	0.03866	-0.828000	0.03084	GAC	C|0.983;A|0.017	0.017	strong		0.741	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135012583	C	A	135012583	3	1	22	1	0	0	0	0	1	0	0	0	8426	506	18	4	2625	4	KNDC1	10	135012583	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69751	135012583	522164	5828	10936										
VENTX	27287	hgsc.bcm.edu	37	chr10	135051543	135051543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcctgccgacttctcccTggggagcctccctggcccag	12	18	1	0	rs2240892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135051543T>C	ENST00000325980.9	+	1	636	c.125T>C	c.(124-126)cTg>cCg	p.L42P		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	42			L -> P (in dbSNP:rs2240892). {ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GACTTCTCCCTGGGGAGCCTC	0.716													T|||	1221	0.24381	0.2943	0.1859	5008	,	,		12549	0.376		0.1123	False		,,,				2504	0.2157				p.L42P		Atlas-SNP	.											VENTX,caecum,carcinoma,0,1	VENTX	24	1	0			c.T125C						PASS	.	T	PRO/LEU	737,3379		49,639,1370	5	7	6		125	-2.4	0	10	dbSNP_98	6	776,7542		42,692,3425	no	missense	VENTX	NM_014468.2	98	91,1331,4795	CC,CT,TT		9.3292,17.9057,12.1682	benign	42/259	135051543	1513,10921	2058	4159	6217	SO:0001583	missense	27287	exon1			TCTCCCTGGGGAG	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.125T>C	10.37:g.135051543T>C	ENSP00000357556:p.Leu42Pro	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	19	0.263889	NM_014468	Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	489	0.2239010989010989	143	0.29065040650406504	71	0.19613259668508287	190	0.3321678321678322	85	0.11213720316622691	T	2.856	-0.237276	0.05944	0.179057	0.093292	ENSG00000151650	ENST00000325980	T	0.43294	0.95	1.78	-2.36	0.06663	.	1.462090	0.04704	N	0.416452	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.33940	T	0.23	.	0.8221	0.01113	0.1484:0.1943:0.2644:0.393	rs2240892;rs60200993;rs2240892	42	O95231	VENTX_HUMAN	P	42	ENSP00000357556:L42P	ENSP00000357556:L42P	L	+	2	0	VENTX	134901533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.183000	0.09712	-0.933000	0.03737	-1.572000	0.00871	CTG	T|0.766;C|0.234	0.234	strong		0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		C	135051543	T	C	135051543	3	2	22	1	0	0	0	0	1	0	0	0	17150	1580	55	3	127	3	VENTX	10	135051543	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38960	135051543	483204	5829	10937										
ADAM8	101	hgsc.bcm.edu	37	chr10	135077265	135077265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgcgaacgttggcttgAtgacctgggaggaaacagac	17	7	0	3	rs3008319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135077265A>G	ENST00000445355.3	-	22	2374	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	ADAM8_ENST00000415217.3_Silent_p.H719H|ADAM8_ENST00000485491.2_Intron	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	775			I -> T (in dbSNP:rs3008319).		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)	p.I775T(1)		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)		CGTTGGCTTGATGACCTGGGA	0.642													A|||	341	0.0680911	0.2421	0.0288	5008	,	,		15527	0.0		0.001	False		,,,				2504	0.0				p.I775T		Atlas-SNP	.											ADAM8,NS,carcinoma,0,1	ADAM8	41	1	1	Substitution - Missense(1)	prostate(1)	c.T2324C						PASS	.	A	THR/ILE,,	990,3408		102,786,1311	41	39	40		2324,2157,	1	0.1	10	dbSNP_101	40	12,8580		0,12,4284	yes	missense,coding-synonymous,intron	ADAM8	NM_001109.4,NM_001164489.1,NM_001164490.1	89,,	102,798,5595	GG,GA,AA		0.1397,22.5102,7.7136	benign,,	775/825,719/743,	135077265	1002,11988	2199	4296	6495	SO:0001583	missense	101	exon22			GGCTTGATGACCT	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.2324T>C	10.37:g.135077265A>G	ENSP00000453302:p.Ile775Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	52	22	0.423077	NM_001109	B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	CCDS31319.2																																																																																			A|0.917;G|0.083	0.083	strong		0.642	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		G	135077265	A	G	135077265	3	3	22	1	0	0	0	0	1	0	0	0	252	333	12	2	76	2	ADAM8	10	135077265	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25722	135077265	457482	5830	10938										
TUBGCP2	10844	hgsc.bcm.edu	37	chr10	135106718	135106718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttcacctgcccgtactcGaaggaagacttctcttcaat	8	12	3	1	rs3008344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135106718G>A	ENST00000252936.3	-	6	888	c.849C>T	c.(847-849)ttC>ttT	p.F283F	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Silent_p.F153F|TUBGCP2_ENST00000368563.2_Silent_p.F283F|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Silent_p.F311F			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	283					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCCCGTACTCGAAGGAAGACT	0.547													G|||	16	0.00319489	0.0106	0.0014	5008	,	,		20270	0.0		0.001	False		,,,				2504	0.0				p.F311F		Atlas-SNP	.											.	TUBGCP2	79	.	0			c.C933T						PASS	.	G		48,4358	50.2+/-85.5	0,48,2155	60	58	59		849	-6.7	0.8	10	dbSNP_101	59	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	TUBGCP2	NM_006659.2		0,51,6452	AA,AG,GG		0.0349,1.0894,0.3921		283/903	135106718	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	10844	exon8			GTACTCGAAGGAA	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.849C>T	10.37:g.135106718G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	58	26	0.448276	NM_001256617	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																			G|0.996;A|0.004	0.004	strong		0.547	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			A	135106718	G	A	135106718	2	1	22	1	0	0	0	0	0	0	0	1	16763	1049	37	1		1	TUBGCP2	10	135106718	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29453	135106718	428029	5831	10939										
SYCE1	93426	hgsc.bcm.edu	37	chr10	135368590	135368590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacatcaggccctgcttggTgtgcagctccaggtctttct	12	12	3	0	rs3737031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135368590T>C	ENST00000343131.5	-	13	1066	c.962A>G	c.(961-963)cAc>cGc	p.H321R	SYCE1_ENST00000432597.2_Intron|SYCE1_ENST00000368517.3_Intron|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	321				H -> R (in Ref. 5; AAH34821). {ECO:0000305}.	synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.H321R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCCTGCTTGGTGTGCAGCTCC	0.552													t|||	775	0.154752	0.0454	0.1715	5008	,	,		20610	0.2698		0.1093	False		,,,				2504	0.2188				p.H321R		Atlas-SNP	.											SYCE1_ENST00000343131,NS,carcinoma,0,1	SYCE1	81	1	1	Substitution - Missense(1)	stomach(1)	c.A962G						PASS	.	A	,ARG/HIS,	76,1308		3,70,619	167	139	147		,962,	0	0	10	dbSNP_107	147	282,2900		10,262,1319	yes	intron,missense,intron	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	,29,	13,332,1938	CC,CT,TT		8.8624,5.4913,7.8406	,benign,	,321/352,	135368590	358,4208	692	1591	2283	SO:0001583	missense	93426	exon13			GCTTGGTGTGCAG	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.962A>G	10.37:g.135368590T>C	ENSP00000341282:p.His321Arg	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	179	85	0.47486	NM_001143764	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	329	0.15064102564102563	24	0.04878048780487805	62	0.1712707182320442	153	0.2674825174825175	90	0.11873350923482849	t	5.594	0.294345	0.10567	0.054913	0.088624	ENSG00000171772	ENST00000343131	T	0.08634	3.07	3.84	-0.0272	0.13927	.	2.080430	0.01972	N	0.044198	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.11235	0.004	B	0.10450	0.005	T	0.46373	-0.9196	9	0.46703	T	0.11	4.5253	1.2555	0.01990	0.1808:0.104:0.1877:0.5274	rs3737031;rs17846112;rs17859115;rs52813729;rs3737031	321	Q8N0S2	SYCE1_HUMAN	R	321	ENSP00000341282:H321R	ENSP00000341282:H321R	H	-	2	0	SYCE1	135218580	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.269000	0.18589	-0.003000	0.14444	-0.364000	0.07487	CAC	T|0.856;C|0.144	0.144	strong		0.552	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		C	135368590	T	C	135368590	3	2	22	1	0	0	0	0	1	0	0	0	15425	1696	59	2	140	2	SYCE1	10	135368590	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	261872	135368590	166157	5832	10940										
SYCE1	93426	hgsc.bcm.edu	37	chr10	135369532	135369532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccagggcacaaatctccTttgccagccgctctggcatc	9	15	2	0	rs3747881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135369532T>C	ENST00000343131.5	-	9	652	c.548A>G	c.(547-549)aAg>aGg	p.K183R	SYCE1_ENST00000432597.2_Missense_Mutation_p.K147R|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.K147R	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	183			K -> R (in dbSNP:rs3747881). {ECO:0000269|PubMed:15489334}.		synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACAAATCTCCTTTGCCAGCCG	0.552													C|||	988	0.197284	0.1997	0.1844	5008	,	,		21691	0.2698		0.1093	False		,,,				2504	0.2188				p.K183R		Atlas-SNP	.											.	SYCE1	81	.	0			c.A548G						PASS	.	C	ARG/LYS,ARG/LYS,ARG/LYS	722,3684	748.4+/-411.9	41,640,1522	99	87	91		548,548,440	-3.9	0	10	dbSNP_107	91	807,7793	779.6+/-407.7	45,717,3538	yes	missense,missense,missense	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	26,26,26	86,1357,5060	CC,CT,TT		9.3837,16.3867,11.7561	benign,benign,benign	183/319,183/352,147/283	135369532	1529,11477	2203	4300	6503	SO:0001583	missense	93426	exon9			ATCTCCTTTGCCA	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.548A>G	10.37:g.135369532T>C	ENSP00000341282:p.Lys183Arg	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	57	28	0.491228	NM_001143763	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	404	0.184981684981685	93	0.18902439024390244	68	0.1878453038674033	153	0.2674825174825175	90	0.11873350923482849	C	0.855	-0.737129	0.03111	0.163867	0.093837	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.38	-3.92	0.04155	.	0.864322	0.10196	N	0.704037	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.28996	-1.0026	9	0.05959	T	0.93	-9.816	7.6589	0.28392	0.133:0.1995:0.0:0.6675	rs3747881;rs17857025;rs52827544;rs60545805;rs3747881	55;183;147	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	R	183;147;147;183	ENSP00000303978:K183R;ENSP00000411779:K147R;ENSP00000357503:K147R;ENSP00000341282:K183R	ENSP00000303978:K183R	K	-	2	0	SYCE1	135219522	0.001000	0.12720	0.005000	0.12908	0.017000	0.09413	-1.544000	0.02192	-1.244000	0.02516	-0.119000	0.15052	AAG	T|0.851;C|0.149	0.149	strong		0.552	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		C	135369532	T	C	135369532	3	2	22	1	0	0	0	0	1	0	0	0	15425	1609	56	3	570	3	SYCE1	10	135369532	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	942	135369532	165215	5833	10941										
SYCE1	93426	hgsc.bcm.edu	37	chr10	135370633	135370633	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagggcagaaattctctcCttgcactcctgcaacatggt					rs8181356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135370633C>T	ENST00000343131.5	-	7	506	c.402G>A	c.(400-402)aaG>aaA	p.K134K	SYCE1_ENST00000432597.2_Silent_p.K98K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Silent_p.K98K	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	134					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.K134K(1)|p.K98K(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AAATTCTCTCCTTGCACTCCT	0.552													C|||	775	0.154752	0.0454	0.1715	5008	,	,		21865	0.2698		0.1093	False		,,,				2504	0.2188				p.K134K		Atlas-SNP	.											SYCE1_ENST00000343131,NS,carcinoma,0,2	SYCE1	81	2	2	Substitution - coding silent(2)	stomach(2)	c.G402A						PASS	.	C	,,	260,4146	142.7+/-177.9	6,248,1949	274	260	264		402,402,294	0.3	1	10	dbSNP_117	264	815,7785	186.2+/-233.7	45,725,3530	no	coding-synonymous,coding-synonymous,coding-synonymous	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	,,	51,973,5479	TT,TC,CC		9.4767,5.901,8.2654	,,	134/319,134/352,98/283	135370633	1075,11931	2203	4300	6503	SO:0001819	synonymous_variant	93426	exon7			TCTCTCCTTGCAC	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.402G>A	10.37:g.135370633C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	182	97	0.532967	NM_001143763	B2RC80|Q9BWU3|Q9BWU4	Silent	SNP	ENST00000343131.5	37	CCDS44501.1																																																																																			C|0.889;T|0.111	0.111	strong		0.552	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		T	135370633	C	T	135370633	2	4	22	1	0	0	0	0	0	0	0	1	15425	680	24	2		2	SYCE1	10	135370633	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1101	135370633	164114	5834	10942	221	2								
SYCE1	93426	hgsc.bcm.edu	37	chr10	135370639	135370639	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaattctctccttgcaCtcctgcaacatggtgtgctt					rs8181357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135370639C>A	ENST00000343131.5	-	7	500	c.396G>T	c.(394-396)gaG>gaT	p.E132D	SYCE1_ENST00000432597.2_Missense_Mutation_p.E96D|SYCE1_ENST00000368517.3_Missense_Mutation_p.E96D|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	132			E -> D (in dbSNP:rs8181357). {ECO:0000269|PubMed:15489334}.		synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.E96D(1)|p.E132D(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTCCTTGCACTCCTGCAACA	0.552													C|||	775	0.154752	0.0454	0.1715	5008	,	,		21943	0.2698		0.1093	False		,,,				2504	0.2188				p.E132D		Atlas-SNP	.											SYCE1_ENST00000343131,NS,carcinoma,0,2	SYCE1	81	2	2	Substitution - Missense(2)	stomach(2)	c.G396T						PASS	.	C	ASP/GLU,ASP/GLU,ASP/GLU	274,4132	151.4+/-185.3	6,262,1935	253	239	244		396,396,288	0.2	0.9	10	dbSNP_117	244	822,7778	189.1+/-236.0	45,732,3523	yes	missense,missense,missense	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	45,45,45	51,994,5458	AA,AC,CC		9.5581,6.2188,8.4269	probably-damaging,probably-damaging,probably-damaging	132/319,132/352,96/283	135370639	1096,11910	2203	4300	6503	SO:0001583	missense	93426	exon7			CTTGCACTCCTGC	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.396G>T	10.37:g.135370639C>A	ENSP00000341282:p.Glu132Asp	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	174	89	0.511494	NM_001143763	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	329	0.15064102564102563	24	0.04878048780487805	62	0.1712707182320442	153	0.2674825174825175	90	0.11873350923482849	C	12.63	1.996834	0.35226	0.062188	0.095581	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.32272	1.46;3.12;3.12;3.12	4.3	0.217	0.15264	.	0.389128	0.24176	N	0.040858	T	0.00012	0.0000	L	0.44542	1.39	0.42354	P	0.00761400000000001	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.19946	0.016;0.027;0.016	T	0.30822	-0.9965	9	0.38643	T	0.18	-1.8451	5.4635	0.16630	0.0:0.5252:0.306:0.1688	rs8181357;rs11537981;rs17857024;rs52803233;rs8181357	4;132;96	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	D	132;96;96;132	ENSP00000303978:E132D;ENSP00000411779:E96D;ENSP00000357503:E96D;ENSP00000341282:E132D	ENSP00000303978:E132D	E	-	3	2	SYCE1	135220629	0.154000	0.22792	0.912000	0.35992	0.873000	0.50193	-0.666000	0.05280	0.050000	0.15949	0.655000	0.94253	GAG	C|0.892;A|0.108	0.108	strong		0.552	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		A	135370639	C	A	135370639	3	1	22	1	0	0	0	0	1	0	0	0	15425	564	20	4	730	4	SYCE1	10	135370639	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	135370639	164108	5835	10943	221	2								
FRG2B	441581	hgsc.bcm.edu	37	chr10	135440203	135440203	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggtcagtggagcactggAtggaggagcagtggagatcg	19	6	1	1	rs200661929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr10:135440203A>T	ENST00000425520.1	-	1	96	c.44T>A	c.(43-45)aTc>aAc	p.I15N	FRG2B_ENST00000443774.1_Missense_Mutation_p.I15N	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	15						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGAGCACTGGATGGAGGAGCA	0.507													.|||	867	0.173123	0.1437	0.1254	5008	,	,		19912	0.2411		0.0885	False		,,,				2504	0.2638				p.I15N		Atlas-SNP	.											FRG2B,NS,haematopoietic_neoplasm,0,1	FRG2B	47	1	0			c.T44A						scavenged	.	A	ASN/ILE	303,4103		0,303,1900	227	254	245		44	0.1	0	10		245	380,8220		0,380,3920	no	missense	FRG2B	NM_001080998.1	149	0,683,5820	TT,TA,AA		4.4186,6.877,5.2514	benign	15/279	135440203	683,12323	2203	4300	6503	SO:0001583	missense	441581	exon1			CACTGGATGGAGG	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.44T>A	10.37:g.135440203A>T	ENSP00000401310:p.Ile15Asn	Somatic	1248	0	0		WXS	Illumina HiSeq	Phase_I	1297	230	0.177332	NM_001080998	Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	3.902	-0.021862	0.07634	0.06877	0.044186	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.44881	0.91;0.91	0.109	0.109	0.14578	.	2.975530	0.01571	N	0.020585	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	B	0.31859	0.343	B	0.24155	0.051	T	0.14227	-1.0480	9	0.87932	D	0	1.8074	.	.	.	.	15	Q96QU4	FRG2B_HUMAN	N	15	ENSP00000408343:I15N;ENSP00000401310:I15N	ENSP00000401310:I15N	I	-	2	0	FRG2B	135290193	0.957000	0.32711	0.030000	0.17652	0.030000	0.12068	0.803000	0.27083	0.156000	0.19299	0.155000	0.16302	ATC	A|0.986;T|0.014	0.014	strong		0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135440203	A	T	135440203	3	4	22	1	0	0	0	0	1	0	0	0	6047	333	12	5	807	5	FRG2B	10	135440203	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69564	135440203	94544	5836	10944										
NLRP6	171389	hgsc.bcm.edu	37	chr11	284299	284299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgagggcagcccccgcActgacggagctgggcctcct	14	17	0	2	rs7108261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:284299A>G	ENST00000312165.5	+	6	2271	c.2271A>G	c.(2269-2271)gcA>gcG	p.A757A	NLRP6_ENST00000534750.1_Silent_p.A756A	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	757					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCCCCCGCACTGACGGAGC	0.637													G|||	862	0.172125	0.6165	0.062	5008	,	,		17322	0.0		0.004	False		,,,				2504	0.0				p.A757A		Atlas-SNP	.											NALP6,NS,carcinoma,+1,1	NLRP6	4	1	0			c.A2271G						scavenged	.	G		2265,2141	587.2+/-386.6	600,1065,538	41	43	42		2271	-0.8	0	11	dbSNP_116	42	25,8575	14.6+/-50.1	0,25,4275	yes	coding-synonymous	NLRP6	NM_138329.1		600,1090,4813	GG,GA,AA		0.2907,48.5928,17.6073		757/893	284299	2290,10716	2203	4300	6503	SO:0001819	synonymous_variant	171389	exon6			CCCCGCACTGACG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2271A>G	11.37:g.284299A>G		Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	94	42	0.446809	NM_138329	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																			A|0.837;G|0.163	0.163	strong		0.637	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		G	284299	A	G	284299	2	3	22	1	0	0	0	0	0	0	0	1	10481	146	6	2		2	NLRP6	11	284299	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10		284299	134722217	5837	10945										
NLRP6	171389	hgsc.bcm.edu	37	chr11	284477	284477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcggccctcccacagggTacagctgcctgacccccagc	11	18	0	1	rs74044411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:284477T>C	ENST00000312165.5	+	7	2375	c.2375T>C	c.(2374-2376)gTa>gCa	p.V792A	NLRP6_ENST00000534750.1_Missense_Mutation_p.V791A|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	792					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCACAGGGTACAGCTGCCT	0.697													T|||	324	0.0646965	0.2337	0.0202	5008	,	,		14829	0.0		0.001	False		,,,				2504	0.0				p.V792A		Atlas-SNP	.											.	NLRP6	4	.	0			c.T2375C						PASS	.	T	ALA/VAL	832,3574	301.5+/-286.9	87,658,1458	26	28	27		2375	1.9	0.1	11	dbSNP_130	27	11,8589	7.1+/-27.0	0,11,4289	yes	missense	NLRP6	NM_138329.1	64	87,669,5747	CC,CT,TT		0.1279,18.8833,6.4816	benign	792/893	284477	843,12163	2203	4300	6503	SO:0001583	missense	171389	exon7			ACAGGGTACAGCT	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2375T>C	11.37:g.284477T>C	ENSP00000309767:p.Val792Ala	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	79	30	0.379747	NM_138329	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	99	0.04532967032967033	90	0.18292682926829268	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	T	10.94	1.491727	0.26774	0.188833	0.001279	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.54675	0.56;0.56	3.06	1.93	0.25924	.	1.705140	0.04569	U	0.393007	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	1	B;B	0.29037	0.006;0.231	B;B	0.22386	0.008;0.039	T	0.07927	-1.0747	10	0.87932	D	0	.	6.1513	0.20313	0.0:0.1362:0.0:0.8638	.	791;792	E9PJZ8;P59044	.;NALP6_HUMAN	A	791;792	ENSP00000433617:V791A;ENSP00000309767:V792A	ENSP00000309767:V792A	V	+	2	0	NLRP6	274477	0.524000	0.26282	0.112000	0.21494	0.161000	0.22273	1.453000	0.35167	1.414000	0.47017	0.374000	0.22700	GTA	T|0.940;C|0.060	0.060	strong		0.697	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		C	284477	T	C	284477	3	2	22	1	0	0	0	0	1	0	0	0	10481	1638	57	2	2401	2	NLRP6	11	284477	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	178	284477	134722039	5838	10946										
NLRP6	171389	hgsc.bcm.edu	37	chr11	285256	285256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtcatcacacacccagcGctggacggccacccacaacc	8	19	2	0	rs144727560	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:285256G>A	ENST00000312165.5	+	8	2631	c.2631G>A	c.(2629-2631)gcG>gcA	p.A877A	RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|NLRP6_ENST00000534750.1_Silent_p.A876A|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	877					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACACCCAGCGCTGGACGGCC	0.597													G|||	19	0.00379393	0.0106	0.0029	5008	,	,		15333	0.0		0.0	False		,,,				2504	0.0031				p.A877A		Atlas-SNP	.											.	NLRP6	4	.	0			c.G2631A						PASS	.	G		49,4357	45.3+/-79.5	0,49,2154	84	69	74		2631	-4.3	0	11	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	NLRP6	NM_138329.1		0,49,6454	AA,AG,GG		0.0,1.1121,0.3767		877/893	285256	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	171389	exon8			CCCAGCGCTGGAC	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2631G>A	11.37:g.285256G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	78	36	0.461538	NM_138329	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																			G|0.995;A|0.005	0.005	strong		0.597	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		A	285256	G	A	285256	2	1	22	1	0	0	0	0	0	0	0	1	10481	1074	38	1		1	NLRP6	11	285256	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	779	285256	134721260	5839	10947										
ATHL1	80162	hgsc.bcm.edu	37	chr11	293188	293188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcccccgacgagtaccaTtcaggggtcaacaactctgt	9	13	3	0	rs12801980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:293188T>C	ENST00000409548.2	+	8	1411	c.1296T>C	c.(1294-1296)caT>caC	p.H432H	ATHL1_ENST00000409655.1_Silent_p.H255H|ATHL1_ENST00000409479.1_Silent_p.H459H	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	432					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACGAGTACCATTCAGGGGTCA	0.602													t|||	2007	0.400759	0.3585	0.3718	5008	,	,		14854	0.3998		0.3668	False		,,,				2504	0.5143				p.H432H		Atlas-SNP	.											.	ATHL1	88	.	0			c.T1296C						PASS	.	T		1434,2972	466.4+/-354.5	245,944,1014	236	205	216		1296	-4.6	0	11	dbSNP_121	216	2969,5631	461.2+/-365.4	510,1949,1841	no	coding-synonymous	ATHL1	NM_025092.4		755,2893,2855	CC,CT,TT		34.5233,32.5465,33.8536		432/738	293188	4403,8603	2203	4300	6503	SO:0001819	synonymous_variant	80162	exon8			GTACCATTCAGGG	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1296T>C	11.37:g.293188T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_025092	Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	CCDS31322.2																																																																																			C|0.344;N|0.000	0.344	strong		0.602	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		C	293188	T	C	293188	2	2	22	1	0	0	0	0	0	0	0	1	1104	1490	52	2		2	ATHL1	11	293188	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7932	293188	134713328	5840	10948										
IFITM2	10581	hgsc.bcm.edu	37	chr11	308314	308314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaaccctgctcccccgaTgtccaccgtgatccacatcc	5	21	0	1	rs14408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:308314T>C	ENST00000399817.4	+	1	152	c.122T>C	c.(121-123)aTg>aCg	p.M41T	IFITM2_ENST00000533141.1_Missense_Mutation_p.M21T|RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000602569.1_Missense_Mutation_p.M21T	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	41			M -> T (in dbSNP:rs14408). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1906403}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTCCCCCGATGTCCACCGTG	0.607													t|||	3531	0.705072	0.7617	0.6657	5008	,	,		14037	0.9593		0.3787	False		,,,				2504	0.7301				p.M41T		Atlas-SNP	.											IFITM2,rectum,carcinoma,0,1	IFITM2	21	1	0			c.T122C						PASS	.	T	THR/MET	2520,1396		857,806,295	63	88	80		122	-2.8	0	11	dbSNP_52	80	3019,5275		590,1839,1718	no	missense	IFITM2	NM_006435.2	81	1447,2645,2013	CC,CT,TT		36.3998,35.6486,45.3645	benign	41/133	308314	5539,6671	1958	4147	6105	SO:0001583	missense	10581	exon1			CCCCGATGTCCAC	X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"interferon induced transmembrane protein 2 (1-8D)"			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.122T>C	11.37:g.308314T>C	ENSP00000382714:p.Met41Thr	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	152	151	0.993421	NM_006435	Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	1298	0.5943223443223443	337	0.6849593495934959	199	0.5497237569060773	523	0.9143356643356644	239	0.3153034300791557	T	0.004	-2.266536	0.00259	0.643514	0.363998	ENSG00000185201	ENST00000533141;ENST00000399817;ENST00000327366	T;T	0.76709	-1.04;-0.8	2.59	-2.76	0.05896	.	1.327100	0.06148	N	0.673694	T	0.00012	0.0000	N	0.00010	-3.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	9	0.02654	T	1	2.4836	3.407	0.07344	0.3221:0.496:0.0:0.1819	rs14408;rs3179090;rs17850538;rs58885107;rs14408	41	Q01629	IFM2_HUMAN	T	21;41;41	ENSP00000434443:M21T;ENSP00000382714:M41T	ENSP00000327996:M41T	M	+	2	0	IFITM2	298314	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.620000	0.00879	-0.998000	0.03446	-3.056000	0.00068	ATG	.	.	weak		0.607	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		C	308314	T	C	308314	3	2	22	1	0	0	0	0	1	0	0	0	7527	1464	51	2	124	2	IFITM2	11	308314	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15126	308314	134698202	5841	10949										
IFITM2	10581	hgsc.bcm.edu	37	chr11	309127	309127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcatgaccattctgctcAtcatcatcccagtgttggtc	6	13	6	1	rs1059091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:309127A>G	ENST00000399817.4	+	2	391	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000602569.1_Missense_Mutation_p.I101V|IFITM2_ENST00000533141.1_Missense_Mutation_p.I101V	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	121			I -> V (in dbSNP:rs1059091). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1906403}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATTCTGCTCATCATCATCCC	0.577													N|||	2707	0.540535	0.5976	0.4553	5008	,	,		21628	0.6944		0.332	False		,,,				2504	0.5798				p.I121V		Atlas-SNP	.											.	IFITM2	21	.	0			c.A361G						PASS	.	G	VAL/ILE	2248,1872		615,1018,427	83	84	84		361	-3.8	0	11	dbSNP_86	84	2757,5609		453,1851,1879	yes	missense	IFITM2	NM_006435.2	29	1068,2869,2306	GG,GA,AA		32.9548,45.4369,40.0849	benign	121/133	309127	5005,7481	2060	4183	6243	SO:0001583	missense	10581	exon2			CTGCTCATCATCA	X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"interferon induced transmembrane protein 2 (1-8D)"			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.361A>G	11.37:g.309127A>G	ENSP00000382714:p.Ile121Val	Somatic	410	0	0		WXS	Illumina HiSeq	Phase_I	447	447	1	NM_006435	Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	1097|1097	0.5022893772893773|0.5022893772893773	287|287	0.5833333333333334|0.5833333333333334	160|160	0.4419889502762431|0.4419889502762431	396|396	0.6923076923076923|0.6923076923076923	254|254	0.33509234828496043|0.33509234828496043	G|G	8.381|8.381	0.837569|0.837569	0.16891|0.16891	0.545631|0.545631	0.329548|0.329548	ENSG00000185201|ENSG00000185201	ENST00000327366|ENST00000533141;ENST00000399817	.|D;D	.|0.86627	.|-2.15;-2.15	2.35|2.35	-3.77|-3.77	0.04346|0.04346	.|.	1.013090|.	0.07963|.	N|.	0.982712|.	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.42050|0.42050	-0.9474|-0.9474	6|8	0.87932|0.35671	D|T	0|0.21	-6.1667|-6.1667	4.3203|4.3203	0.11013|0.11013	0.3671:0.0:0.4565:0.1764|0.3671:0.0:0.4565:0.1764	rs1059091;rs3168356;rs3765194;rs17845234;rs17858050;rs1059091|rs1059091;rs3168356;rs3765194;rs17845234;rs17858050;rs1059091	.|121	.|Q01629	.|IFM2_HUMAN	R|V	117|101;121	.|ENSP00000434443:I101V;ENSP00000382714:I121V	ENSP00000327996:H117R|ENSP00000382714:I121V	H|I	+|+	2|1	0|0	IFITM2|IFITM2	299127|299127	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.264000|-0.264000	0.08658|0.08658	-1.307000|-1.307000	0.02321|0.02321	-2.523000|-2.523000	0.00184|0.00184	CAT|ATC	A|0.607;C|0.000;G|0.393	0.393	strong		0.577	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		G	309127	A	G	309127	3	3	22	1	0	0	0	0	1	0	0	0	7527	217	8	2	367	2	IFITM2	11	309127	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	813	309127	134697389	5842	10950										
IFITM3	10410	hgsc.bcm.edu	37	chr11	320723	320723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgtggggcgcccccagcaCagccacctcgtgctcctcct	11	18	0	0	rs199582787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M|IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	31					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCCAGCACAGCCACCTCG	0.612																																					p.V31M		Atlas-SNP	.											IFITM3,brain,glioma,0,1	IFITM3	132	1	0			c.G91A						scavenged	.						87	98	95					11																	320723		1967	4140	6107	SO:0001583	missense	10410	exon1			CCAGCACAGCCAC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.91G>A	11.37:g.320723C>T	ENSP00000382707:p.Val31Met	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_021034	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526447	0.27299	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.79454	-1.03;-1.27	4.61	-4.91	0.03085	.	11.488500	0.02440	N	0.084490	T	0.64516	0.2605	L	0.39147	1.195	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46400	-0.9194	10	0.13108	T	0.6	0.9022	6.4601	0.21952	0.1231:0.361:0.0:0.5159	.	31	Q01628	IFM3_HUMAN	M	31;15;10	ENSP00000382707:V31M;ENSP00000432108:V10M	ENSP00000372047:V15M	V	-	1	0	IFITM3	310723	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.638000	0.02013	-0.562000	0.06086	-1.790000	0.00627	GTG	.	.	weak		0.612	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		T	320723	C	T	320723	3	4	22	1	0	0	0	0	1	0	0	0	7528	478	17	2	318	2	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11596	320723	134685793	5843	10951										
B4GALNT4	338707	hgsc.bcm.edu	37	chr11	372157	372157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccggggggtccacgctgCgccatccacacagagggctg	16	15	0	1	rs34063493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:372157C>T	ENST00000329962.6	+	2	200	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	67			A -> V (in dbSNP:rs34063493).		metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCACGCTGCGCCATCCACA	0.647													.|||	1881	0.375599	0.4887	0.3098	5008	,	,		19615	0.3859		0.2952	False		,,,				2504	0.3415				p.A67V		Atlas-SNP	.											.	B4GALNT4	83	.	0			c.C200T						PASS	.	T	VAL/ALA	1576,1900		360,856,522	65	57	60		200	-4	0	11	dbSNP_126	60	1762,4752		249,1264,1744	yes	missense	B4GALNT4	NM_178537.4	64	609,2120,2266	TT,TC,CC		27.0494,45.3395,33.4134	benign	67/1040	372157	3338,6652	1738	3257	4995	SO:0001583	missense	338707	exon2			ACGCTGCGCCATC	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.200C>T	11.37:g.372157C>T	ENSP00000328277:p.Ala67Val	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	107	42	0.392523	NM_178537	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	817	0.3740842490842491	223	0.4532520325203252	119	0.3287292817679558	245	0.42832167832167833	230	0.3034300791556728	c	3.145	-0.175445	0.06421	0.453395	0.270494	ENSG00000182272	ENST00000329962	T	0.04862	3.54	3.52	-3.99	0.04069	.	2.616520	0.02606	N	0.101596	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.46610	-0.9179	9	0.02654	T	1	-0.5022	10.2695	0.43475	0.0:0.4536:0.0:0.5464	rs34063493;rs59064726	67	Q76KP1	B4GN4_HUMAN	V	67	ENSP00000328277:A67V	ENSP00000328277:A67V	A	+	2	0	B4GALNT4	362157	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.321000	0.08018	-0.770000	0.04614	-1.740000	0.00687	GCG	A|0.000;C|0.629;G|0.000;T|0.371	0.371	strong		0.647	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		T	372157	C	T	372157	3	4	22	1	0	0	0	0	1	0	0	0	1269	768	27	1	206	1	B4GALNT4	11	372157	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51434	372157	134634359	5844	10952										
B4GALNT4	338707	hgsc.bcm.edu	37	chr11	372700	372700	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatgctgtttcctgggggGgctgggaggctgccactgaa	17	9	0	1	rs35475866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:372700G>C	ENST00000329962.6	+	3	294	c.294G>C	c.(292-294)ggG>ggC	p.G98G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	98					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCTGGGGGGGCTGGGAGGC	0.647													.|||	1656	0.330671	0.3253	0.2997	5008	,	,		10061	0.3839		0.2952	False		,,,				2504	0.3415				p.G98G		Atlas-SNP	.											B4GALNT4,rectum,carcinoma,0,1	B4GALNT4	83	1	0			c.G294C						PASS	.	G		1430,2946		245,940,1003	18	21	20		294	-1.3	0	11	dbSNP_126	20	2375,6187		331,1713,2237	no	coding-synonymous	B4GALNT4	NM_178537.4		576,2653,3240	CC,CG,GG		27.7388,32.6782,29.4095		98/1040	372700	3805,9133	2188	4281	6469	SO:0001819	synonymous_variant	338707	exon3			TGGGGGGGCTGGG	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.294G>C	11.37:g.372700G>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_178537	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																			G|0.714;C|0.286	0.286	strong		0.647	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		C	372700	G	C	372700	2	2	22	1	0	0	0	0	0	0	0	1	1269	1219	43	4		4	B4GALNT4	11	372700	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	543	372700	134633816	5845	10953										
B4GALNT4	338707	hgsc.bcm.edu	37	chr11	379598	379598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacggagaaagtcccgaAcccgctcccgccgcctccgt	11	18	0	2	rs1134699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:379598A>G	ENST00000329962.6	+	15	2385	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	795					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGTCCCGAACCCGCTCCCG	0.731													.|||	2497	0.498602	0.6664	0.464	5008	,	,		10232	0.4911		0.4026	False		,,,				2504	0.4029				p.E795E		Atlas-SNP	.											B4GALNT4,rectum,carcinoma,0,1	B4GALNT4	83	1	0			c.A2385G						scavenged	.	G		2237,1841		675,887,477	5	7	7		2385	2.7	0.3	11	dbSNP_86	7	2925,5275		621,1683,1796	no	coding-synonymous	B4GALNT4	NM_178537.4		1296,2570,2273	GG,GA,AA		35.6707,45.1447,42.0427		795/1040	379598	5162,7116	2039	4100	6139	SO:0001819	synonymous_variant	338707	exon15			TCCCGAACCCGCT	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2385A>G	11.37:g.379598A>G		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_178537	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																			A|0.483;G|0.517	0.517	strong		0.731	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		G	379598	A	G	379598	2	3	22	1	0	0	0	0	0	0	0	1	1269	40	2	2		2	B4GALNT4	11	379598	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6898	379598	134626918	5846	10954										
B4GALNT4	338707	hgsc.bcm.edu	37	chr11	380390	380390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgtggagggcaggctggcCttcgcgcccgtggtcatgcg	18	12	1	0	rs115057328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:380390C>T	ENST00000329962.6	+	18	2814	c.2814C>T	c.(2812-2814)gcC>gcT	p.A938A		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	938					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCTGGCCTTCGCGCCCG	0.682													.|||	22	0.00439297	0.0151	0.0029	5008	,	,		13932	0.0		0.0	False		,,,				2504	0.0				p.A938A		Atlas-SNP	.											.	B4GALNT4	83	.	0			c.C2814T						PASS	.	C		57,4349	51.6+/-87.1	0,57,2146	60	43	49		2814	3.8	1	11	dbSNP_132	49	0,8598		0,0,4299	no	coding-synonymous	B4GALNT4	NM_178537.4		0,57,6445	TT,TC,CC		0.0,1.2937,0.4383		938/1040	380390	57,12947	2203	4299	6502	SO:0001819	synonymous_variant	338707	exon18			GCTGGCCTTCGCG	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2814C>T	11.37:g.380390C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	104	64	0.615385	NM_178537	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																			C|0.995;T|0.005	0.005	strong		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		T	380390	C	T	380390	2	4	22	1	0	0	0	0	0	0	0	1	1269	668	24	2		2	B4GALNT4	11	380390	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	792	380390	134626126	5847	10955										
PKP3	11187	hgsc.bcm.edu	37	chr11	403764	403764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaacgctaggaacaaggaCgagatgtgtgagtcgggcag	17	7	0	2	rs113114984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:403764C>T	ENST00000331563.2	+	10	2146	c.2070C>T	c.(2068-2070)gaC>gaT	p.D690D		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	690					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACAAGGACGAGATGTGTG	0.602													c|||	181	0.0361422	0.0477	0.0259	5008	,	,		19612	0.0605		0.0258	False		,,,				2504	0.0133				p.D690D		Atlas-SNP	.											.	PKP3	36	.	0			c.C2070T						PASS	.			191,4193	118.8+/-156.5	2,187,2003	94	85	88		2070	-3.7	1	11	dbSNP_132	88	158,8412	75.1+/-137.7	3,152,4130	no	coding-synonymous	PKP3	NM_007183.2		5,339,6133	TT,TC,CC		1.8436,4.3568,2.6941		690/798	403764	349,12605	2192	4285	6477	SO:0001819	synonymous_variant	11187	exon10			CAAGGACGAGATG	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2070C>T	11.37:g.403764C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	35	13	0.371429	NM_007183	F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	CCDS7695.1																																																																																			C|0.969;T|0.031	0.031	strong		0.602	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		T	403764	C	T	403764	2	4	22	1	0	0	0	0	0	0	0	1	11986	535	19	1		1	PKP3	11	403764	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23374	403764	134602752	5848	10956										
PTDSS2	81490	hgsc.bcm.edu	37	chr11	490036	490036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctcggctccgtcctggcGctcacctggaccgtctggcg	12	18	2	0	rs75782220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:490036G>A	ENST00000308020.5	+	11	1445	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	423					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCGTCCTGGCGCTCACCTGGA	0.657													G|||	347	0.0692891	0.0182	0.1282	5008	,	,		15765	0.1508		0.0258	False		,,,				2504	0.0573				p.A423A		Atlas-SNP	.											PTDSS2,caecum,carcinoma,0,3	PTDSS2	27	3	0			c.G1269A						PASS	.	G		107,4299	84.4+/-122.9	0,107,2096	88	59	69		1269	1.6	1	11	dbSNP_131	69	283,8317	105.0+/-166.0	9,265,4026	no	coding-synonymous	PTDSS2	NM_030783.1		9,372,6122	AA,AG,GG		3.2907,2.4285,2.9986		423/488	490036	390,12616	2203	4300	6503	SO:0001819	synonymous_variant	81490	exon11			CCTGGCGCTCACC	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1269G>A	11.37:g.490036G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	61	22	0.360656	NM_030783		Silent	SNP	ENST00000308020.5	37	CCDS7696.1																																																																																			G|0.960;A|0.040	0.040	strong		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			A	490036	G	A	490036	2	1	22	1	0	0	0	0	0	0	0	1	12737	1074	38	1		1	PTDSS2	11	490036	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86272	490036	134516480	5849	10957										
RNH1	6050	hgsc.bcm.edu	37	chr11	499120	499120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgagctccttgaagtccGgcttggccctgagcacggag	14	13	0	3	rs17585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:499120G>A	ENST00000534797.1	-	4	1916	c.509C>T	c.(508-510)cCg>cTg	p.P170L	RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397614.1_Missense_Mutation_p.P170L|RNH1_ENST00000438658.2_Missense_Mutation_p.P170L|RNH1_ENST00000354420.2_Missense_Mutation_p.P170L|RNH1_ENST00000397615.2_Missense_Mutation_p.P170L|RNH1_ENST00000533410.1_Missense_Mutation_p.P170L|RNH1_ENST00000356187.5_Missense_Mutation_p.P170L|RNH1_ENST00000397604.3_Missense_Mutation_p.P170L			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGAAGTCCGGCTTGGCCCT	0.642													G|||	437	0.0872604	0.0756	0.0879	5008	,	,		15651	0.003		0.1352	False		,,,				2504	0.1401				p.P170L		Atlas-SNP	.											.	RNH1	24	.	0			c.C509T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	403,4003	194.3+/-219.2	14,375,1814	63	50	55		509,509,509,509,509,509,509,509	-2.6	0	11	dbSNP_63	55	1171,7429	236.1+/-268.4	90,991,3219	yes	missense,missense,missense,missense,missense,missense,missense,missense	RNH1	NM_002939.3,NM_203383.1,NM_203384.1,NM_203385.1,NM_203386.1,NM_203387.1,NM_203388.1,NM_203389.1	98,98,98,98,98,98,98,98	104,1366,5033	AA,AG,GG		13.6163,9.1466,12.1021	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	170/462,170/462,170/462,170/462,170/462,170/462,170/462,170/462	499120	1574,11432	2203	4300	6503	SO:0001583	missense	6050	exon5			AAGTCCGGCTTGG		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.509C>T	11.37:g.499120G>A	ENSP00000433999:p.Pro170Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_203384	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	CCDS7697.1	193	0.08836996336996338	49	0.09959349593495935	44	0.12154696132596685	3	0.005244755244755245	97	0.1279683377308707	G	15.28	2.788088	0.49997	0.091466	0.136163	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368;ENST00000529306	T;T;T;T;T;T;T;T;T;T;T	0.54866	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;0.55	3.7	-2.59	0.06209	.	2.250640	0.02604	N	0.101387	T	0.00412	0.0013	M	0.61703	1.905	0.80722	P	0.0	B	0.15930	0.015	B	0.06405	0.002	T	0.11966	-1.0566	9	0.51188	T	0.08	.	1.3186	0.02112	0.176:0.2885:0.3163:0.2191	rs17585;rs17155880;rs17585	170	P13489	RINI_HUMAN	L	170	ENSP00000433999:P170L;ENSP00000380738:P170L;ENSP00000380739:P170L;ENSP00000380729:P170L;ENSP00000435594:P170L;ENSP00000416589:P170L;ENSP00000346402:P170L;ENSP00000348515:P170L;ENSP00000435748:P170L;ENSP00000435057:P170L;ENSP00000434947:P170L	ENSP00000346402:P170L	P	-	2	0	RNH1	489120	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.054000	0.11826	-0.238000	0.09724	0.478000	0.44815	CCG	G|0.891;A|0.109	0.109	strong		0.642	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		A	499120	G	A	499120	3	1	22	1	0	0	0	0	1	0	0	0	13504	1116	39	1	900	1	RNH1	11	499120	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9084	499120	134507396	5850	10958										
LRRC56	115399	hgsc.bcm.edu	37	chr11	549949	549949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtgctgtggctggctcGctgtggcctcgctgacctgg	17	12	0	1	rs371135949		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:549949G>A	ENST00000270115.7	+	7	874	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	125										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTGGCTCGCTGTGGCCTC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		18623	0.001		0.0	False		,,,				2504	0.0				p.R125H		Atlas-SNP	.											.	LRRC56	23	.	0			c.G374A						PASS	.	G	HIS/ARG	0,4406		0,0,2203	64	56	59		374	3.8	1	11		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC56	NM_198075.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/543	549949	1,13005	2203	4300	6503	SO:0001583	missense	115399	exon7			TGGCTCGCTGTGG		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.374G>A	11.37:g.549949G>A	ENSP00000270115:p.Arg125His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_198075	Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809742	0.70797	0.0	1.16E-4	ENSG00000161328	ENST00000270115	T	0.09538	2.97	4.71	3.8	0.43715	.	0.119263	0.64402	D	0.000014	T	0.21921	0.0528	L	0.46819	1.47	0.40148	D	0.976912	D	0.89917	1.0	D	0.81914	0.995	T	0.01256	-1.1404	10	0.72032	D	0.01	-17.8379	7.3187	0.26515	0.1956:0.0:0.8044:0.0	.	125	Q8IYG6	LRC56_HUMAN	H	125	ENSP00000270115:R125H	ENSP00000270115:R125H	R	+	2	0	LRRC56	539949	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.731000	0.55013	1.219000	0.43474	-0.186000	0.12905	CGC	.	.	weak		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		A	549949	G	A	549949	3	1	22	1	0	0	0	0	1	0	0	0	9012	1087	38	1	388	1	LRRC56	11	549949	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50829	549949	134456567	5851	10959										
RASSF7	8045	hgsc.bcm.edu	37	chr11	562421	562421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgctgcacagacctgcGgggcctggagctcagggtgc	17	12	1	1	rs2242182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:562421G>A	ENST00000397583.3	+	3	900	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	RASSF7_ENST00000454668.2_Missense_Mutation_p.R156Q|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.R156Q|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000344375.4_Missense_Mutation_p.R156Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.R156Q	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	156			R -> Q (in dbSNP:rs2242182).		apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGACCTGCGGGGCCTGGAG	0.701													G|||	409	0.0816693	0.003	0.1398	5008	,	,		16128	0.1696		0.0517	False		,,,				2504	0.0869				p.R156Q	Pancreas(184;1170 3913 7268)	Atlas-SNP	.											.	RASSF7	22	.	0			c.G467A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG	33,4161		0,33,2064	12	11	12		467,467,467	1.1	1	11	dbSNP_98	12	314,8032		7,300,3866	yes	missense,missense,missense	RASSF7	NM_001143993.1,NM_001143994.1,NM_003475.3	43,43,43	7,333,5930	AA,AG,GG		3.7623,0.7868,2.7671	benign,benign,benign	156/338,156/321,156/374	562421	347,12193	2097	4173	6270	SO:0001583	missense	8045	exon3			ACCTGCGGGGCCT	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.467G>A	11.37:g.562421G>A	ENSP00000380713:p.Arg156Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	130	55	0.423077	NM_001143994	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	CCDS7702.1	170	0.07783882783882784	2	0.0040650406504065045	35	0.09668508287292818	92	0.16083916083916083	41	0.05408970976253298	G	0.055	-1.239467	0.01493	0.007868	0.037623	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.28666	1.61;1.61;1.6;1.6;1.62	3.52	1.13	0.20643	.	0.374590	0.26650	N	0.023219	T	0.00039	0.0001	N	0.00347	-1.61	0.80722	P	0.0	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.36040	-0.9764	9	0.02654	T	1	0.0495	5.3402	0.15979	0.3872:0.0:0.6128:0.0	rs2242182	156;156;156	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	Q	156	ENSP00000403068:R156Q;ENSP00000380712:R156Q;ENSP00000344226:R156Q;ENSP00000380713:R156Q;ENSP00000405606:R156Q	ENSP00000344226:R156Q	R	+	2	0	RASSF7	552421	0.012000	0.17670	0.963000	0.40424	0.208000	0.24298	0.289000	0.18957	0.463000	0.27118	-0.379000	0.06801	CGG	G|0.923;A|0.077	0.077	strong		0.701	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		A	562421	G	A	562421	3	1	22	1	0	0	0	0	1	0	0	0	13091	1116	39	1	473	1	RASSF7	11	562421	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12472	562421	134444095	5852	10960										
RASSF7	8045	hgsc.bcm.edu	37	chr11	563257	563257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctgcagcagttcatccaGcagaccggggctgcgctgcc	12	15	1	1	rs34954482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:563257G>A	ENST00000397583.3	+	4	1324	c.891G>A	c.(889-891)caG>caA	p.Q297Q	RASSF7_ENST00000431809.1_Silent_p.Q297Q|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000454668.2_Silent_p.Q297Q|RASSF7_ENST00000344375.4_Silent_p.Q297Q|RASSF7_ENST00000397582.3_Silent_p.Q297Q|MIR210HG_ENST00000500447.1_lincRNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	297					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCATCCAGCAGACCGGGG	0.662													G|||	584	0.116613	0.1263	0.1556	5008	,	,		18575	0.1696		0.0527	False		,,,				2504	0.0869				p.Q297Q	Pancreas(184;1170 3913 7268)	Atlas-SNP	.											.	RASSF7	22	.	0			c.G891A						PASS	.	G	,,	483,3921	214.8+/-234.0	24,435,1743	27	29	28		891,891,891	3.2	1	11	dbSNP_126	28	382,8218	121.0+/-180.1	8,366,3926	no	coding-synonymous,coding-synonymous,coding-synonymous	RASSF7	NM_001143993.1,NM_001143994.1,NM_003475.3	,,	32,801,5669	AA,AG,GG		4.4419,10.9673,6.6518	,,	297/338,297/321,297/374	563257	865,12139	2202	4300	6502	SO:0001819	synonymous_variant	8045	exon4			CATCCAGCAGACC	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.891G>A	11.37:g.563257G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	155	59	0.380645	NM_001143994	G5E9N9|Q3KP41|Q3KP42	Silent	SNP	ENST00000397583.3	37	CCDS7702.1																																																																																			G|0.921;A|0.079	0.079	strong		0.662	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		A	563257	G	A	563257	2	1	22	1	0	0	0	0	0	0	0	1	13091	962	34	2		2	RASSF7	11	563257	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	836	563257	134443259	5853	10961										
PHRF1	57661	hgsc.bcm.edu	37	chr11	609577	609577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggaagacagcccctctgCgagtgggagggtacaggagg	18	8	1	1	rs7123948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:609577C>T	ENST00000264555.5	+	14	4249	c.4121C>T	c.(4120-4122)gCg>gTg	p.A1374V	PHRF1_ENST00000533464.1_Missense_Mutation_p.A1370V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1372V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1373V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1374			A -> V (in dbSNP:rs7123948).		mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCCCCTCTGCGAGTGGGAGG	0.677													T|||	425	0.0848642	0.2474	0.0476	5008	,	,		12381	0.001		0.0427	False		,,,				2504	0.0215				p.A1373V		Atlas-SNP	.											.	PHRF1	188	.	0			c.C4118T						PASS	.	T	VAL/ALA	734,3328		68,598,1365	15	21	19		4118	-6.4	0	11	dbSNP_116	19	345,7995		14,317,3839	yes	missense	PHRF1	NM_020901.2	64	82,915,5204	TT,TC,CC		4.1367,18.0699,8.7002	benign	1373/1649	609577	1079,11323	2031	4170	6201	SO:0001583	missense	57661	exon14			CCTCTGCGAGTGG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4121C>T	11.37:g.609577C>T	ENSP00000264555:p.Ala1374Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_020901	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		169	0.07738095238095238	116	0.23577235772357724	20	0.055248618784530384	0	0.0	33	0.04353562005277045	T	3.357	-0.131373	0.06753	0.180699	0.041367	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	3.21	-6.43	0.01926	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	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	0.02104	-1.1213	8	0.23891	T	0.37	1.1815	3.0647	0.06211	0.2082:0.457:0.105:0.2298	rs7123948;rs7123948	1370;1372;1373;1374	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	1374;1372;1373;1370	ENSP00000264555:A1374V;ENSP00000388589:A1372V;ENSP00000410626:A1373V;ENSP00000431870:A1370V	ENSP00000264555:A1374V	A	+	2	0	PHRF1	599577	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.142000	0.03203	-3.050000	0.00260	-2.422000	0.00218	GCG	C|0.902;T|0.098	0.098	strong		0.677	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	609577	C	T	609577	3	4	22	1	0	0	0	0	1	0	0	0	11861	768	27	1	4168	1	PHRF1	11	609577	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46320	609577	134396939	5854	10962										
IRF7	3665	hgsc.bcm.edu	37	chr11	614367	614367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcttggagtccagcatgTgtgtgtgccaggaatggccc	17	9	0	0	rs11246214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:614367T>C	ENST00000397574.2	-	6	855	c.486A>G	c.(484-486)acA>acG	p.T162T	IRF7_ENST00000525445.1_Silent_p.T56T|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Silent_p.T175T|IRF7_ENST00000397570.1_Silent_p.T162T|IRF7_ENST00000348655.6_Silent_p.T162T|IRF7_ENST00000397566.1_Silent_p.T175T	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	162					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGCATGTGTGTGTGCCA	0.662													t|||	200	0.0399361	0.0772	0.0375	5008	,	,		15192	0.001		0.0527	False		,,,				2504	0.0184				p.T175T		Atlas-SNP	.											.	IRF7	23	.	0			c.A525G						PASS	.		,,	233,4147	129.8+/-166.5	8,217,1965	32	32	32		486,486,525	-2.5	0	11	dbSNP_120	32	405,8189	118.3+/-177.8	12,381,3904	no	coding-synonymous,coding-synonymous,coding-synonymous	IRF7	NM_001572.3,NM_004029.2,NM_004031.2	,,	20,598,5869	CC,CT,TT		4.7126,5.3196,4.9175	,,	162/504,162/475,175/517	614367	638,12336	2190	4297	6487	SO:0001819	synonymous_variant	3665	exon4			AGCATGTGTGTGT	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.486A>G	11.37:g.614367T>C		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	45	21	0.466667	NM_004031	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																			T|0.956;C|0.044	0.044	strong		0.662	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		C	614367	T	C	614367	2	2	22	1	0	0	0	0	0	0	0	1	7835	1683	59	2		2	IRF7	11	614367	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4790	614367	134392149	5855	10963										
CDHR5	53841	hgsc.bcm.edu	37	chr11	621242	621242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggttccacattctccccCggagtgtcctgcaacagacg	10	15	1	1	rs112269777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:621242C>T	ENST00000358353.3	-	8	949	c.627G>A	c.(625-627)ccG>ccA	p.P209P	CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.P209P|CDHR5_ENST00000349570.7_Silent_p.P209P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CATTCTCCCCCGGAGTGTCCT	0.682													C|||	200	0.0399361	0.0772	0.036	5008	,	,		11793	0.001		0.0527	False		,,,				2504	0.0194				p.P209P		Atlas-SNP	.											.	CDHR5	77	.	0			c.G627A						PASS	.	C	,,	236,4170	137.3+/-173.1	8,220,1975	52	54	53		627,627,627	0.8	0	11	dbSNP_132	53	412,8186	127.8+/-186.1	14,384,3901	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	22,604,5876	TT,TC,CC		4.7918,5.3563,4.9831	,,	209/840,209/846,209/652	621242	648,12356	2203	4299	6502	SO:0001819	synonymous_variant	53841	exon7			CTCCCCCGGAGTG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.627G>A	11.37:g.621242C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	204	88	0.431373	NM_031264	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1	105	0.04807692307692308	49	0.09959349593495935	17	0.04696132596685083	0	0.0	39	0.051451187335092345	C	8.290	0.817618	0.16607	0.053563	0.047918	ENSG00000099834	ENST00000526077	T	0.50813	0.73	3.87	0.819	0.18785	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05699	-1.0869	6	0.87932	D	0	0.1364	6.7107	0.23276	0.0:0.6467:0.0:0.3533	.	.	.	.	R	183	ENSP00000435082:G183R	ENSP00000435082:G183R	G	-	1	0	CDHR5	611242	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.268000	0.18571	0.264000	0.21851	-0.258000	0.10820	GGG	C|0.953;T|0.047	0.047	strong		0.682	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		T	621242	C	T	621242	2	4	22	1	0	0	0	0	0	0	0	1	3122	639	23	1		1	CDHR5	11	621242	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6875	621242	134385274	5856	10964										
DEAF1	10522	hgsc.bcm.edu	37	chr11	653968	653968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtgagacctaccttgcgTtggcagaaggtggagcagta	15	7	0	2	rs10615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:653968T>C	ENST00000382409.3	-	11	2071	c.1587A>G	c.(1585-1587)caA>caG	p.Q529Q	DEAF1_ENST00000338675.6_Silent_p.Q454Q|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	529					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CTACCTTGCGTTGGCAGAAGG	0.632													C|||	1426	0.284744	0.6263	0.1369	5008	,	,		16402	0.2202		0.1312	False		,,,				2504	0.1524				p.Q529Q		Atlas-SNP	.											.	DEAF1	47	.	0			c.A1587G						PASS	.	C		2383,2023	563.4+/-381.2	659,1065,479	188	148	161		1587	3.5	1	11	dbSNP_116	161	1052,7548	771.0+/-407.7	73,906,3321	no	coding-synonymous	DEAF1	NM_021008.2		732,1971,3800	CC,CT,TT		12.2326,45.9147,26.4109		529/566	653968	3435,9571	2203	4300	6503	SO:0001819	synonymous_variant	10522	exon11			CTTGCGTTGGCAG	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1587A>G	11.37:g.653968T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	71	37	0.521127	NM_021008	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000382409.3	37	CCDS31327.1																																																																																			T|0.726;C|0.274	0.274	strong		0.632	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		C	653968	T	C	653968	2	2	22	1	0	0	0	0	0	0	0	1	4380	1722	60	2		2	DEAF1	11	653968	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32726	653968	134352548	5857	10965										
LRDD	79751	hgsc.bcm.edu	37	chr11	800186	800186	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctgcgcccttcctctgcCgggcagcctcagcctcctcg	10	20	3	0	rs148849040		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:800186C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R740Q|PIDD_ENST00000411829.2_Missense_Mutation_p.R723Q	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCCTCTGCCGGGCAGCCTC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14878	0.0		0.0	False		,,,				2504	0.0				p.R740Q	Colon(93;848 1468 3270 23355 49636)	Atlas-SNP	.											.	PIDD	76	.	0			c.G2219A						PASS	.	C	GLN/ARG,GLN/ARG	5,4369		0,5,2182	15	17	16		2219,2168	3.3	1	11	dbSNP_134	16	0,8574		0,0,4287	yes	missense,missense	PIDD	NM_145886.3,NM_145887.3	43,43	0,5,6469	TT,TC,CC		0.0,0.1143,0.0386	probably-damaging,probably-damaging	740/911,723/894	800186	5,12943	2187	4287	6474	SO:0001631	upstream_gene_variant	55367	exon14			CTCTGCCGGGCAG	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800186C>T	Exception_encountered	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	60	41	0.683333	NM_145886	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238462	0.79800	0.001143	0.0	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.48201	0.82;0.94	4.24	3.29	0.37713	.	0.138436	0.46145	N	0.000315	T	0.49236	0.1545	L	0.29908	0.895	0.32961	D	0.521066	D;D;D;D	0.76494	0.999;0.999;0.996;0.999	D;P;P;D	0.64776	0.929;0.886;0.806;0.928	T	0.58429	-0.7638	10	0.54805	T	0.06	.	7.9393	0.29948	0.0:0.7476:0.0:0.2524	.	451;740;583;723	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	Q	723;740	ENSP00000416801:R723Q;ENSP00000337797:R740Q	ENSP00000337797:R740Q	R	-	2	0	PIDD	790186	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	1.731000	0.38135	2.193000	0.70182	0.462000	0.41574	CGG	C|1.000;T|0.000	0.000	weak		0.692	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			T	800186	C	T	800186	1	4	22	0	1	0	0	0	0	0	0	0	8936	652	23	1		1	LRDD	11	800186	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146218	800186	134206330	5858	10966										
AP2A2	161	hgsc.bcm.edu	37	chr11	993907	993907	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgcagcgacagccagctCaggaacgcagacgtggagct	14	13	1	1	rs11538725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:993907C>G	ENST00000448903.2	+	13	1845	c.1704C>G	c.(1702-1704)ctC>ctG	p.L568L	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.L569L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	568					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)		ACAGCCAGCTCAGGAACGCAG	0.657													g|||	924	0.184505	0.295	0.0533	5008	,	,		17321	0.2976		0.0885	False		,,,				2504	0.1104				p.L569L		Atlas-SNP	.											.	AP2A2	50	.	0			c.C1707G						PASS	.	G	,	1015,3335		116,783,1276	27	30	29		1707,1704	1	0.2	11	dbSNP_120	29	675,7879		26,623,3628	yes	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	142,1406,4904	GG,GC,CC		7.891,23.3333,13.0967	,	569/941,568/940	993907	1690,11214	2175	4277	6452	SO:0001819	synonymous_variant	161	exon13			CCAGCTCAGGAAC	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.1704C>G	11.37:g.993907C>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	57	25	0.438596	NM_001242837	O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	CCDS44512.1																																																																																			C|0.832;G|0.168	0.168	strong		0.657	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		G	993907	C	G	993907	2	3	22	1	0	0	0	0	0	0	0	1	740	813	29	4		4	AP2A2	11	993907	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193721	993907	134012609	5859	10967										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	1941	41	0.0211231		WXS	Illumina HiSeq	Phase_I	2201	89	0.0404362	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	22	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22942	1016849	133989667	5860	10968	222	2	18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	1912	36	0.0188285		WXS	Illumina HiSeq	Phase_I	2182	80	0.0366636	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	22	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2	1016851	133989665	5861	10969	222	2	18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1016960	1016960	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgggccacaggggttctGgtgcctgtactggtgtgttt	17	7	1	0	rs113980831		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1016960G>T	ENST00000421673.2	-	31	5891	c.5841C>A	c.(5839-5841)acC>acA	p.T1947T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1947	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGGGTTCTGGTGCCTGTAC	0.572																																					p.T1947T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.C5841A						scavenged	.						516	536	529					11																	1016960		2200	4292	6492	SO:0001819	synonymous_variant	4588	exon31			GGTTCTGGTGCCT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5841C>A	11.37:g.1016960G>T		Somatic	918	5	0.00544662		WXS	Illumina HiSeq	Phase_I	1031	130	0.126091	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			G|0.500;T|0.500	0.500	weak		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016960	G	T	1016960	2	4	22	1	0	0	0	0	0	0	0	1	9980	1335	47	4		4	MUC6	11	1016960	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109	1016960	133989556	5862	10970			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	930	100	0.107527		WXS	Illumina HiSeq	Phase_I	1028	143	0.139105	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	22	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108	1017068	133989448	5863	10971			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017316	1017316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggtgtgagggtgtgatgGggttggataggtagtggtgg	23	0	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017316G>T	ENST00000421673.2	-	31	5535	c.5485C>A	c.(5485-5487)Cca>Aca	p.P1829T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1829	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTGTGATGGGGTTGGATAG	0.547																																					p.P1829T		Atlas-SNP	.											MUC6_ENST00000421673,right_upper_lobe,carcinoma,+1,2	MUC6	408	2	0			c.C5485A						scavenged	.																																			SO:0001583	missense	4588	exon31			GTGATGGGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5485C>A	11.37:g.1017316G>T	ENSP00000406861:p.Pro1829Thr	Somatic	1180	17	0.0144068		WXS	Illumina HiSeq	Phase_I	1388	64	0.0461095	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335327	0.24253	.	.	ENSG00000184956	ENST00000421673	T	0.24723	1.84	3.21	-0.343	0.12632	.	.	.	.	.	T	0.30355	0.0762	L	0.52126	1.63	0.09310	N	1	D	0.54964	0.969	P	0.61477	0.889	T	0.17531	-1.0366	9	0.02654	T	1	.	7.2552	0.26173	0.0:0.2939:0.4065:0.2996	.	1829	Q6W4X9	MUC6_HUMAN	T	1829	ENSP00000406861:P1829T	ENSP00000406861:P1829T	P	-	1	0	MUC6	1007316	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.664000	0.05292	-0.177000	0.10690	0.313000	0.20887	CCA	.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017316	G	T	1017316	3	4	22	1	0	0	0	0	1	0	0	0	9980	1232	43	4	1846	4	MUC6	11	1017316	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248	1017316	133989200	5864	10972			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017483	1017483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctggtgcctgtactggtgTggttgggggtgatgctggtg	19	5	1	1	rs79986665		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017483T>G	ENST00000421673.2	-	31	5368	c.5318A>C	c.(5317-5319)cAc>cCc	p.H1773P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1773	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGGTGTGGTTGGGGGT	0.577																																					p.H1773P		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.A5318C						scavenged	.						544	541	542					11																	1017483		2199	4294	6493	SO:0001583	missense	4588	exon31			CTGGTGTGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5318A>C	11.37:g.1017483T>G	ENSP00000406861:p.His1773Pro	Somatic	901	170	0.188679		WXS	Illumina HiSeq	Phase_I	1213	220	0.181369	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	4.174	0.030796	0.08101	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.91	0.844	0.18943	.	.	.	.	.	T	0.04907	0.0132	N	0.01109	-1.01	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.43065	-0.9414	9	0.22706	T	0.39	.	6.6218	0.22808	0.0:0.1732:0.4682:0.3586	.	1773	Q6W4X9	MUC6_HUMAN	P	1773	ENSP00000406861:H1773P	ENSP00000406861:H1773P	H	-	2	0	MUC6	1007483	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	0.066000	0.16515	-0.743000	0.03520	CAC	T|0.500;G|0.500	0.500	weak		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017483	T	G	1017483	3	3	22	1	0	0	0	0	1	0	0	0	9980	1696	59	5	2013	5	MUC6	11	1017483	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	167	1017483	133989033	5865	10973			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017522	1017522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtagaagttgaggtgactTcaggatggtgtgtggaggaa	18	2	1	3	rs199592093		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017522T>G	ENST00000421673.2	-	31	5329	c.5279A>C	c.(5278-5280)gAa>gCa	p.E1760A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1760	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGGTGACTTCAGGATGGTG	0.567																																					p.E1760A		Atlas-SNP	.											.	MUC6	408	.	0			c.A5279C						PASS	.						751	715	727					11																	1017522		2200	4294	6494	SO:0001583	missense	4588	exon31			GTGACTTCAGGAT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5279A>C	11.37:g.1017522T>G	ENSP00000406861:p.Glu1760Ala	Somatic	957	0	0		WXS	Illumina HiSeq	Phase_I	1236	124	0.100324	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	0.655	-0.808100	0.02819	.	.	ENSG00000184956	ENST00000421673	T	0.20332	2.08	0.235	0.235	0.15431	.	.	.	.	.	T	0.25195	0.0612	L	0.38175	1.15	0.09310	N	1	D	0.67145	0.996	D	0.70227	0.968	T	0.11966	-1.0566	8	0.05833	T	0.94	.	.	.	.	.	1760	Q6W4X9	MUC6_HUMAN	A	1760	ENSP00000406861:E1760A	ENSP00000406861:E1760A	E	-	2	0	MUC6	1007522	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-3.356000	0.00499	0.263000	0.21812	0.260000	0.18958	GAA	.	.	weak		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017522	T	G	1017522	3	3	22	1	0	0	0	0	1	0	0	0	9980	1783	62	5	2052	5	MUC6	11	1017522	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39	1017522	133988994	5866	10974			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017566	1017566	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgaatgtagggatgtagaGgttttggccgtgctaaatga							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017566G>A	ENST00000421673.2	-	31	5285	c.5235C>T	c.(5233-5235)acC>acT	p.T1745T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1745	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGTAGAGGTTTTGGCCG	0.547																																					p.T1745T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-2,2	MUC6	408	2	0			c.C5235T						scavenged	.						769	740	750					11																	1017566		2199	4287	6486	SO:0001819	synonymous_variant	4588	exon31			TGTAGAGGTTTTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5235C>T	11.37:g.1017566G>A		Somatic	1007	23	0.0228401		WXS	Illumina HiSeq	Phase_I	1214	88	0.0724876	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017566	G	A	1017566	2	1	22	1	0	0	0	0	0	0	0	1	9980	987	35	2		2	MUC6	11	1017566	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44	1017566	133988950	5867	10975	223	2	18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017575	1017575	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggatgtagaggttttggcCgtgctaaatgagcttcggga					rs76222533		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017575C>T	ENST00000421673.2	-	31	5276	c.5226G>A	c.(5224-5226)acG>acA	p.T1742T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTTTTGGCCGTGCTAAATG	0.537													-|||	1	0.000199681	0.0	0.0014	5008	,	,		39036	0.0		0.0	False		,,,				2504	0.0				p.T1742T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.G5226A						scavenged	.						697	677	684					11																	1017575		2190	4282	6472	SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5226G>A	11.37:g.1017575C>T		Somatic	983	92	0.093591		WXS	Illumina HiSeq	Phase_I	1148	138	0.120209	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	strong		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017575	C	T	1017575	2	4	22	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017575	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	1017575	133988941	5868	10976	223	2	18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC6	4588	hgsc.bcm.edu	37	chr11	1017945	1017945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcaccaaagaggtggagAaaggtggaacgtgagtggga	18	4	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1017945A>G	ENST00000421673.2	-	31	4906	c.4856T>C	c.(4855-4857)tTc>tCc	p.F1619S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1619	Approximate repeats.|Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGGTGGAGAAAGGTGGAAC	0.542																																					p.F1619S		Atlas-SNP	.											.	MUC6	408	.	0			c.T4856C						PASS	.																																			SO:0001583	missense	4588	exon31			GTGGAGAAAGGTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4856T>C	11.37:g.1017945A>G	ENSP00000406861:p.Phe1619Ser	Somatic	1032	0	0		WXS	Illumina HiSeq	Phase_I	1212	49	0.040429	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.375208	0.01214	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.39	-1.65	0.08291	.	.	.	.	.	T	0.14227	0.0344	L	0.41710	1.295	0.09310	N	1	B	0.29341	0.242	B	0.35931	0.214	T	0.39860	-0.9593	9	0.06625	T	0.88	.	6.4604	0.21954	0.6729:0.0:0.3271:0.0	.	1619	Q6W4X9	MUC6_HUMAN	S	1619	ENSP00000406861:F1619S	ENSP00000406861:F1619S	F	-	2	0	MUC6	1007945	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.579000	0.05834	-0.502000	0.06596	-0.917000	0.02746	TTC	.	.	none		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017945	A	G	1017945	3	3	22	1	0	0	0	0	1	0	0	0	9980	246	9	2	2475	2	MUC6	11	1017945	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	370	1017945	133988571	5869	10977			18	47		10	8	1097	N	T_G_C_A	1.943378e-07
MUC2	4583	hgsc.bcm.edu	37	chr11	1075850	1075850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcccccgccggggtggaGtccatcctgctgaccatcaa	13	15	1	1	rs11825969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1075850G>A	ENST00000441003.2	+	2	303	c.276G>A	c.(274-276)gaG>gaA	p.E92E	MUC2_ENST00000359061.5_Silent_p.E92E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	92	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	CCGGGGTGGAGTCCATCCTGC	0.647													G|||	582	0.116214	0.2179	0.0821	5008	,	,		16206	0.001		0.2078	False		,,,				2504	0.0276				p.E92E		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.G276A						PASS	.	G		840,3090		104,632,1229	23	26	25		276	-0.8	0	11	dbSNP_120	25	1728,6528		193,1342,2593	no	coding-synonymous	MUC2	NM_002457.2		297,1974,3822	AA,AG,GG		20.9302,21.374,21.0734		92/2813	1075850	2568,9618	1965	4128	6093	SO:0001819	synonymous_variant	4583	exon2			GGTGGAGTCCATC	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.276G>A	11.37:g.1075850G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	99	49	0.494949	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				G|0.844;A|0.156	0.156	strong		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1075850	G	A	1075850	2	1	22	1	0	0	0	0	0	0	0	1	9975	1020	36	2		2	MUC2	11	1075850	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57905	1075850	133930666	5870	10978										
MUC2	4583	hgsc.bcm.edu	37	chr11	1075920	1075920	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgtgcttaacggggccGtgtgagtgtggtcggtggca	19	7	0	1	rs11825977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1075920G>A	ENST00000441003.2	+	2	373	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	MUC2_ENST00000359061.5_Splice_Site_p.V116M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	116	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.		V -> M (in dbSNP:rs11825977).		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)	TAACGGGGCCGTGTGAGTGTG	0.632													A|||	578	0.115415	0.2148	0.0821	5008	,	,		17247	0.001		0.2078	False		,,,				2504	0.0276				p.V116M		Atlas-SNP	.											.	MUC2	614	.	0			c.G346A						PASS	.	A	MET/VAL	826,3184		103,620,1282	18	20	19		346	-7.6	0.6	11	dbSNP_120	19	1757,6545		199,1359,2593	yes	missense-near-splice	MUC2	NM_002457.2	21	302,1979,3875	AA,AG,GG		21.1636,20.5985,20.9795	possibly-damaging	116/2813	1075920	2583,9729	2005	4151	6156	SO:0001630	splice_region_variant	4583	exon2			GGGGCCGTGTGAG	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.347+1G>A	11.37:g.1075920G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		313	0.1433150183150183	102	0.2073170731707317	39	0.10773480662983426	1	0.0017482517482517483	171	0.22559366754617413	A	1.513	-0.548989	0.04024	0.205985	0.211636	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.59772	0.24;0.24	3.78	-7.56	0.01322	.	1.101460	0.07009	N	0.824818	T	0.00012	0.0000	N	0.11131	0.1	0.80722	P	0.0	B	0.31413	0.322	B	0.21708	0.036	T	0.04165	-1.0972	9	0.33141	T	0.24	.	2.0602	0.03590	0.3385:0.3431:0.2074:0.111	rs11825977;rs59632081;rs11825977	116	E7EUV1	.	M	116	ENSP00000415183:V116M;ENSP00000351956:V116M	ENSP00000351956:V116M	V	+	1	0	MUC2	1065920	0.020000	0.18652	0.582000	0.28627	0.104000	0.19210	-0.102000	0.10956	-2.618000	0.00441	-2.870000	0.00099	GTG	G|0.851;A|0.149	0.149	strong		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	Missense_Mutation	A	1075920	G	A	1075920	5	1	22	1	0	0	0	0	0	0	1	0	9975	1159	40	1	352	1	MUC2	11	1075920	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70	1075920	133930596	5871	10979										
MUC2	4583	hgsc.bcm.edu	37	chr11	1085941	1085941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcctccgggcagaggacGgagctgaagttggaagacaa	14	10	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1085941G>A	ENST00000441003.2	+	22	2808	c.2781G>A	c.(2779-2781)acG>acA	p.T927T	MUC2_ENST00000359061.5_Silent_p.T927T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	927	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		p.T927T(2)		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)	GGCAGAGGACGGAGCTGAAGT	0.652																																					p.T927T		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	2	Substitution - coding silent(2)	lung(2)	c.G2781A						scavenged	.						49	56	54					11																	1085941		2122	4215	6337	SO:0001819	synonymous_variant	4583	exon22			GAGGACGGAGCTG	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.2781G>A	11.37:g.1085941G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	66	2	0.030303	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.	.	none		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1085941	G	A	1085941	2	1	22	1	0	0	0	0	0	0	0	1	9975	1103	39	1		1	MUC2	11	1085941	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10021	1085941	133920575	5872	10980										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092890	1092890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaccaccaccacggtgaCcccaaccccaacacccaccg	4	24	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1092890C>T	ENST00000441003.2	+	30	4736	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1571I|MUC2_ENST00000333592.6_5'Flank	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)	ACCACGGTGaccccaacccca	0.637																																					p.T1570I		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,-1,2	MUC2	614	2	0			c.C4709T						scavenged	.						119	156	143					11																	1092890		1961	3652	5613	SO:0001583	missense	4583	exon30			CGGTGACCCCAAC	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.4709C>T	11.37:g.1092890C>T	ENSP00000415183:p.Thr1570Ile	Somatic	159	2	0.0125786		WXS	Illumina HiSeq	Phase_I	163	8	0.0490798	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536608	0.04082	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15487	2.42;3.24	1.3	-2.33	0.06724	.	0.589600	0.12692	U	0.447130	T	0.07548	0.0190	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.21546	0.035	T	0.24799	-1.0150	9	0.38643	T	0.18	.	4.395	0.11358	0.3284:0.4793:0.1923:0.0	.	1570	E7EUV1	.	I	1570;1571	ENSP00000415183:T1570I;ENSP00000351956:T1571I	ENSP00000351956:T1571I	T	+	2	0	MUC2	1082890	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.404000	0.20999	-0.107000	0.12088	0.064000	0.15345	ACC	.	.	none		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092890	C	T	1092890	3	4	22	1	0	0	0	0	1	0	0	0	9975	507	18	2	4827	2	MUC2	11	1092890	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6949	1092890	133913626	5873	10981										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093228	1093228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccatcaccaccaccactAcggtgaccccaaccccaaca	4	21	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1093228A>G	ENST00000441003.2	+	30	5074	c.5047A>G	c.(5047-5049)Acg>Gcg	p.T1683A	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1650A	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)	caccaccactacGGTGacccc	0.632																																					p.T1683A		Atlas-SNP	.											.	MUC2	614	.	0			c.A5047G						PASS	.						85	148	126					11																	1093228		1822	3322	5144	SO:0001583	missense	4583	exon30			ACCACTACGGTGA	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.5047A>G	11.37:g.1093228A>G	ENSP00000415183:p.Thr1683Ala	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	66	13	0.19697	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	3.524	-0.097228	0.07010	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12465	2.97;2.68	1.75	0.234	0.15390	.	0.000000	0.34750	U	0.003714	T	0.04497	0.0123	.	.	.	0.09310	N	1	B	0.28933	0.228	B	0.21546	0.035	T	0.37126	-0.9719	9	0.11485	T	0.65	.	3.3046	0.06996	0.6291:0.0:0.0:0.3709	.	1683	E7EUV1	.	A	1683;1650	ENSP00000415183:T1683A;ENSP00000351956:T1650A	ENSP00000351956:T1650A	T	+	1	0	MUC2	1083228	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.225000	0.09151	0.813000	0.34350	0.155000	0.16302	ACG	.	.	none		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093228	A	G	1093228	3	3	22	1	0	0	0	0	1	0	0	0	9975	391	14	2	5165	2	MUC2	11	1093228	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	338	1093228	133913288	5874	10982										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093362	1093362	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgacacccatctccaccacCactacggtgaccccaacccc	4	23	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1093362C>G	ENST00000441003.2	+	30	5208	c.5181C>G	c.(5179-5181)acC>acG	p.T1727T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1694T|MUC2_ENST00000333592.6_Silent_p.T15T	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)	tctccaccaccactacggtga	0.647																																					p.T1727T		Atlas-SNP	.											.	MUC2	614	.	0			c.C5181G						PASS	.						187	230	215					11																	1093362		1968	3798	5766	SO:0001819	synonymous_variant	4583	exon30			CACCACCACTACG	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.5181C>G	11.37:g.1093362C>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	132	8	0.0606061	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.	.	none		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093362	C	G	1093362	2	3	22	1	0	0	0	0	0	0	0	1	9975	581	21	4		4	MUC2	11	1093362	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	134	1093362	133913154	5875	10983										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093600	1093600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcaaccccaacacccaccGgcacacagaccccaaccatg	5	22	0	1	rs74193969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1093600G>A	ENST00000441003.2	+	30	5446	c.5419G>A	c.(5419-5421)Ggc>Agc	p.G1807S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.G1763S|MUC2_ENST00000333592.6_Missense_Mutation_p.G95S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	AACACCCACCGGCACACAGAC	0.607													N|||	721	0.14397	0.0189	0.1398	5008	,	,		19218	0.4117		0.0358	False		,,,				2504	0.1513				p.G1807S		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.G5419A						scavenged	.	G	SER/GLY	136,4252		1,134,2059	104	140	128		5416	0.5	0	11	dbSNP_130	128	224,8326		2,220,4053	yes	missense	MUC2	NM_002457.2	56	3,354,6112	AA,AG,GG		2.6199,3.0994,2.7825	benign	1806/2813	1093600	360,12578	2194	4275	6469	SO:0001583	missense	4583	exon30			CCCACCGGCACAC	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.5419G>A	11.37:g.1093600G>A	ENSP00000415183:p.Gly1807Ser	Somatic	127	2	0.015748		WXS	Illumina HiSeq	Phase_I	141	55	0.390071	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382251	0.04966	0.030994	0.026199	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.17370	3.2;3.45;2.28	1.71	0.462	0.16695	.	0.254805	0.16288	U	0.221059	T	0.01976	0.0062	.	.	.	0.50313	P	1.3900000000000023E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	8	0.09590	T	0.72	.	5.0135	0.14324	0.8191:0.0:0.1809:0.0	.	1807	E7EUV1	.	S	1807;1763;95	ENSP00000415183:G1807S;ENSP00000351956:G1763S;ENSP00000331373:G95S	ENSP00000331373:G95S	G	+	1	0	MUC2	1083600	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.389000	0.07342	-0.046000	0.13446	-1.373000	0.01185	GGC	G|0.965;A|0.036	0.036	strong		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093600	G	A	1093600	3	1	22	1	0	0	0	0	1	0	0	0	9975	1116	39	1	5537	1	MUC2	11	1093600	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	238	1093600	133912916	5876	10984										
MUC2	4583	hgsc.bcm.edu	37	chr11	1103876	1103876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacggaggtttcgtacgcCggctgcaccaagaccgtcct	11	15	0	1	rs41532344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1103876C>T	ENST00000441003.2	+	48	8202	c.8175C>T	c.(8173-8175)gcC>gcT	p.A2725A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5087					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)	TTTCGTACGCCGGCTGCACCA	0.657													c|||	531	0.10603	0.1331	0.0548	5008	,	,		15043	0.1448		0.0447	False		,,,				2504	0.1288				p.A2721A		Atlas-SNP	.											.	MUC2	614	.	0			c.C8163T						PASS	.	T		408,3738		18,372,1683	26	30	28		8160	-4.7	0	11	dbSNP_127	28	311,8061		4,303,3879	no	coding-synonymous	MUC2	NM_002457.2		22,675,5562	TT,TC,CC		3.7148,9.8408,5.7437		2720/2813	1103876	719,11799	2073	4186	6259	SO:0001819	synonymous_variant	4583	exon49			GTACGCCGGCTGC	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.8175C>T	11.37:g.1103876C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	103	53	0.514563	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				C|0.898;T|0.102	0.102	strong		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1103876	C	T	1103876	2	4	22	1	0	0	0	0	0	0	0	1	9975	639	23	1		1	MUC2	11	1103876	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10276	1103876	133902640	5877	10985										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1250488	1250488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagcgcgcgcagctctgCgaggaccactgtgtggacgg	15	15	1	0	rs2075859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1250488C>T	ENST00000529681.1	+	9	1123	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	MUC5B_ENST00000447027.1_Silent_p.C355C|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	355	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCAGCTCTGCGAGGACCACT	0.682													c|||	1967	0.392772	0.2814	0.4366	5008	,	,		14317	0.6052		0.34	False		,,,				2504	0.3476				p.C355C		Atlas-SNP	.											MUC5B,NS,carcinoma,0,2	MUC5B	473	2	0			c.C1065T						PASS	.	C		1063,3051		143,777,1137	22	28	26		1065	-0.9	0.8	11	dbSNP_96	26	2915,5479		531,1853,1813	no	coding-synonymous	MUC5B	NM_002458.2		674,2630,2950	TT,TC,CC		34.7272,25.8386,31.8036		355/5763	1250488	3978,8530	2057	4197	6254	SO:0001819	synonymous_variant	727897	exon9			GCTCTGCGAGGAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1065C>T	11.37:g.1250488C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	136	74	0.544118	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.604;T|0.396	0.396	strong		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1250488	C	T	1250488	2	4	22	1	0	0	0	0	0	0	0	1	9979	776	27	1		1	MUC5B	11	1250488	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146612	1250488	133756028	5878	10986										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1252708	1252708	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtggtgcagacaggcctGgggctgcagctgctggtgca	17	10	0	1	rs2735709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1252708G>C	ENST00000529681.1	+	14	1654	c.1596G>C	c.(1594-1596)ctG>ctC	p.L532L	MUC5B_ENST00000447027.1_Silent_p.L535L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	532	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGACAGGCCTGGGGCTGCAGC	0.667													c|||	2852	0.569489	0.5726	0.611	5008	,	,		15576	0.6548		0.498	False		,,,				2504	0.5215				p.L532L		Atlas-SNP	.											.	MUC5B	473	.	0			c.G1596C						PASS	.	C		2349,1667		712,925,371	22	25	24		1596	-5.9	0	11	dbSNP_100	24	4204,4172		1100,2004,1084	no	coding-synonymous	MUC5B	NM_002458.2		1812,2929,1455	CC,CG,GG		49.809,41.509,47.1191		532/5763	1252708	6553,5839	2008	4188	6196	SO:0001819	synonymous_variant	727897	exon14			AGGCCTGGGGCTG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1596G>C	11.37:g.1252708G>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	132	68	0.515152	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			G|0.443;C|0.557	0.557	strong		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1252708	G	C	1252708	2	2	22	1	0	0	0	0	0	0	0	1	9979	1335	47	4		4	MUC5B	11	1252708	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2220	1252708	133753808	5879	10987										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1255773	1255773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagttcagcacacactgCgtgtccggctgtgtctgtcc	10	15	2	0	rs7116614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1255773C>T	ENST00000529681.1	+	21	2551	c.2493C>T	c.(2491-2493)tgC>tgT	p.C831C	MUC5B_ENST00000447027.1_Silent_p.C834C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	831	TIL 3.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACACACTGCGTGTCCGGCT	0.667													c|||	1700	0.339457	0.2095	0.33	5008	,	,		11037	0.5982		0.2883	False		,,,				2504	0.3078				p.C831C		Atlas-SNP	.											MUC5B,NS,carcinoma,0,2	MUC5B	473	2	0			c.C2493T						PASS	.			812,3458		79,654,1402	25	30	28		2493	-8.2	0	11	dbSNP_116	28	2440,6004		386,1668,2168	no	coding-synonymous	MUC5B	NM_002458.2		465,2322,3570	TT,TC,CC		28.8963,19.0164,25.5781		831/5763	1255773	3252,9462	2135	4222	6357	SO:0001819	synonymous_variant	727897	exon21			ACACTGCGTGTCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2493C>T	11.37:g.1255773C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	186	87	0.467742	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.647;T|0.353	0.353	strong		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1255773	C	T	1255773	2	4	22	1	0	0	0	0	0	0	0	1	9979	776	27	1		1	MUC5B	11	1255773	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3065	1255773	133750743	5880	10988										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1262312	1262312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaggtggactgtgaccGcatgcgggggctgatgtgcg	18	10	0	2	rs10835639	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1262312G>A	ENST00000529681.1	+	31	4260	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R1404H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1401	7 X Cys-rich subdomain repeats.		R -> H (in dbSNP:rs10835639).		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACTGTGACCGCATGCGGGGG	0.667													g|||	681	0.135982	0.1067	0.1282	5008	,	,		16163	0.3105		0.003	False		,,,				2504	0.138				p.R1401H		Atlas-SNP	.											.	MUC5B	473	.	0			c.G4202A						PASS	.		HIS/ARG	334,3912		17,300,1806	25	32	30		4202	-8.8	0	11	dbSNP_120	30	10,8450		0,10,4220	yes	missense	MUC5B	NM_002458.2	29	17,310,6026	AA,AG,GG		0.1182,7.8662,2.7074	benign	1401/5763	1262312	344,12362	2123	4230	6353	SO:0001583	missense	727897	exon31			GTGACCGCATGCG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4202G>A	11.37:g.1262312G>A	ENSP00000436812:p.Arg1401His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	89	52	0.58427	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	256	0.11721611721611722	49	0.09959349593495935	37	0.10220994475138122	168	0.2937062937062937	2	0.002638522427440633	g	5.080	0.200476	0.09652	0.078662	0.001182	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.29	4.39	-8.78	0.00824	.	.	.	.	.	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	B;B	0.20052	0.041;0.023	B;B	0.12837	0.008;0.005	T	0.24190	-1.0167	8	0.87932	D	0	.	3.2169	0.06702	0.3283:0.414:0.1804:0.0773	rs10835639	2094;1404	A7Y9J9;E9PBJ0	.;.	H	1401;1404;1402;1471	ENSP00000436812:R1401H;ENSP00000415793:R1404H	ENSP00000343037:R1402H	R	+	2	0	MUC5B	1218888	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-10.746000	0.00005	-4.160000	0.00068	-2.213000	0.00299	CGC	G|0.894;A|0.106	0.106	strong		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1262312	G	A	1262312	3	1	22	1	0	0	0	0	1	0	0	0	9979	1087	38	1	4333	1	MUC5B	11	1262312	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6539	1262312	133744204	5881	10989										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264823	1264823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggtgacttcccacacccTagcagcaaccaccggtacca	7	18	0	1	rs200832980|rs4963031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1264823T>C	ENST00000529681.1	+	31	6771	c.6713T>C	c.(6712-6714)cTa>cCa	p.L2238P	MUC5B_ENST00000447027.1_Missense_Mutation_p.L2241P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2238	7 X Cys-rich subdomain repeats.|Thr-rich.		L -> P (in dbSNP:rs4963031). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCACACCCTAGCAGCAACC	0.642													c|||	3991	0.796925	0.7526	0.817	5008	,	,		14042	0.9722		0.6889	False		,,,				2504	0.773				p.L2238P		Atlas-SNP	.											MUC5B,brain,glioma,0,2	MUC5B	473	2	0			c.T6713C						PASS	.	C	PRO/LEU	2768,1496		1195,378,559	84	122	109		6713	-0.5	0	11	dbSNP_111	109	4759,3685		1955,849,1418	no	missense	MUC5B	NM_002458.2	98	3150,1227,1977	CC,CT,TT		43.6405,35.0844,40.7696	possibly-damaging	2238/5763	1264823	7527,5181	2132	4222	6354	SO:0001583	missense	727897	exon31			ACACCCTAGCAGC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6713T>C	11.37:g.1264823T>C	ENSP00000436812:p.Leu2238Pro	Somatic	518	1	0.0019305		WXS	Illumina HiSeq	Phase_I	490	489	0.997959	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1481	0.6781135531135531	288	0.5853658536585366	249	0.6878453038674033	504	0.8811188811188811	440	0.5804749340369393	c	1.936	-0.444712	0.04604	0.649156	0.563595	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24350	1.86;2.05	1.87	-0.497	0.12023	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	8	0.87932	D	0	.	2.2153	0.03958	0.1675:0.3503:0.3535:0.1287	rs4963031;rs58599618;rs4963031	2876;2241	A7Y9J9;E9PBJ0	.;.	P	2238;2241;2239;2253	ENSP00000436812:L2238P;ENSP00000415793:L2241P	ENSP00000343037:L2239P	L	+	2	0	MUC5B	1221399	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.462000	0.00997	-0.462000	0.06984	-0.684000	0.03749	CTA	T|0.297;C|0.703	0.703	strong		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264823	T	C	1264823	3	2	22	1	0	0	0	0	1	0	0	0	9979	1522	53	3	6844	3	MUC5B	11	1264823	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2511	1264823	133741693	5882	10990										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1265786	1265786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacagaccaccacacccaCggccaccatgtccacagcca	5	20	1	1	rs60787297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1265786C>T	ENST00000529681.1	+	31	7734	c.7676C>T	c.(7675-7677)aCg>aTg	p.T2559M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2562M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2559	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		T -> M (in dbSNP:rs2860722).	Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACACCCACGGCCACCATG	0.637													C|||	2056	0.410543	0.295	0.4539	5008	,	,		18934	0.5774		0.3837	False		,,,				2504	0.3916				p.T2559M		Atlas-SNP	.											.	MUC5B	473	.	0			c.C7676T						PASS	.						19	29	26					11																	1265786		1879	4070	5949	SO:0001583	missense	727897	exon31			CACCCACGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7676C>T	11.37:g.1265786C>T	ENSP00000436812:p.Thr2559Met	Somatic	506	1	0.00197628		WXS	Illumina HiSeq	Phase_I	607	202	0.332784	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.373|5.373	0.254033|0.254033	0.10185|0.10185	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.17854	.|2.25;2.44	2.96|2.96	-3.82|-3.82	0.04281|0.04281	.|.	.|.	.|.	.|.	.|.	T|T	0.08268|0.08268	0.0206|0.0206	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	P|P	0.0|0.0	.|P;P	.|0.44260	.|0.83;0.83	.|B;B	.|0.28139	.|0.086;0.086	T|T	0.13683|0.13683	-1.0500|-1.0500	5|8	0.59425|0.87932	D|D	0.04|0	.|.	1.3164|1.3164	0.02108|0.02108	0.1479:0.4211:0.1448:0.2861|0.1479:0.4211:0.1448:0.2861	rs2860722;rs4046522;rs4046525;rs2860722|rs2860722;rs4046522;rs4046525;rs2860722	.|3197;2562	.|A7Y9J9;E9PBJ0	.|.;.	W|M	103|2559;2562;2531;2574	.|ENSP00000436812:T2559M;ENSP00000415793:T2562M	ENSP00000440615:R103W|ENSP00000343037:T2531M	R|T	+|+	1|2	2|0	MUC5B|MUC5B	1222362|1222362	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.051000|0.051000	0.14141|0.14141	-1.007000|-1.007000	0.03408|0.03408	0.195000|0.195000	0.17529|0.17529	CGG|ACG	C|0.500;T|0.500	0.500	strong		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1265786	C	T	1265786	3	4	22	1	0	0	0	0	1	0	0	0	9979	536	19	1	7807	1	MUC5B	11	1265786	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	963	1265786	133740730	5883	10991										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1267325	1267325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttacacccatcccctcctTcacccttgggaccaccggga	6	19	1	0	rs55813014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1267325T>C	ENST00000529681.1	+	31	9273	c.9215T>C	c.(9214-9216)tTc>tCc	p.F3072S	MUC5B_ENST00000447027.1_Missense_Mutation_p.F3075S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3072	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		F -> S (in dbSNP:rs3021161). {ECO:0000269|PubMed:9013550}.	Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCCCCTCCTTCACCCTTGGG	0.607													N|||	2407	0.480631	0.348	0.5576	5008	,	,		18233	0.6558		0.4573	False		,,,				2504	0.4489				p.F3072S		Atlas-SNP	.											.	MUC5B	473	.	0			c.T9215C						PASS	.	C	SER/PHE	847,3291		220,407,1442	154	163	160		9215	-0.5	0	11	dbSNP_129	160	2932,5428		897,1138,2145	no	missense	MUC5B	NM_002458.2	155	1117,1545,3587	CC,CT,TT		35.0718,20.4688,30.2368	benign	3072/5763	1267325	3779,8719	2069	4180	6249	SO:0001583	missense	727897	exon31			CCTCCTTCACCCT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9215T>C	11.37:g.1267325T>C	ENSP00000436812:p.Phe3072Ser	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	248	113	0.455645	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	896	0.41025641025641024	119	0.241869918699187	156	0.430939226519337	337	0.5891608391608392	284	0.37467018469656993	C	3.245	-0.154468	0.06544	0.204688	0.350718	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18016	2.24;2.42	1.82	-0.504	0.11997	.	.	.	.	.	T	0.00012	0.0000	N	0.02802	-0.49	0.80722	P	0.0	B;B	0.15141	0.012;0.0	B;B	0.04013	0.001;0.0	T	0.37079	-0.9721	8	0.87932	D	0	.	6.2501	0.20842	0.0:0.5527:0.0:0.4473	rs55813014;rs61296301	3655;3075	A7Y9J9;E9PBJ0	.;.	S	3072;3075;3044;3032	ENSP00000436812:F3072S;ENSP00000415793:F3075S	ENSP00000343037:F3044S	F	+	2	0	MUC5B	1223901	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.258000	0.18387	-0.825000	0.04290	-1.762000	0.00668	TTC	T|0.574;C|0.426	0.426	strong		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1267325	T	C	1267325	3	2	22	1	0	0	0	0	1	0	0	0	9979	1783	62	2	9346	2	MUC5B	11	1267325	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1539	1267325	133739191	5884	10992										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1267562	1267562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgcagccactggccccaCggccaccccgtcctccaccc	7	23	0	0	rs60268710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1267562C>T	ENST00000529681.1	+	31	9510	c.9452C>T	c.(9451-9453)aCg>aTg	p.T3151M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3154M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3151	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|TGPTA -> LPHG (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGGCCCCACGGCCACCCCG	0.677													c|||	1706	0.340655	0.2133	0.33	5008	,	,		17737	0.6012		0.2883	False		,,,				2504	0.3057				p.T3151M		Atlas-SNP	.											MUC5AC,NS,carcinoma,-1,1	MUC5B	473	1	0			c.C9452T						PASS	.	C	MET/THR	782,3294		71,640,1327	53	69	63		9452	-3.5	0	11	dbSNP_129	63	2471,5819		394,1683,2068	no	missense	MUC5B	NM_002458.2	81	465,2323,3395	TT,TC,CC		29.807,19.1855,26.306	possibly-damaging	3151/5763	1267562	3253,9113	2038	4145	6183	SO:0001583	missense	727897	exon31			GCCCCACGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9452C>T	11.37:g.1267562C>T	ENSP00000436812:p.Thr3151Met	Somatic	342	1	0.00292398		WXS	Illumina HiSeq	Phase_I	392	193	0.492347	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	769	0.35210622710622713	111	0.22560975609756098	107	0.2955801104972376	346	0.6048951048951049	205	0.2704485488126649	c	2.006	-0.428266	0.04701	0.191855	0.29807	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.26	1.73	-3.46	0.04767	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	P;P	0.44260	0.707;0.83	B;B	0.28139	0.029;0.086	T	0.35699	-0.9778	8	0.87932	D	0	.	5.8817	0.18858	0.0:0.1548:0.426:0.4192	rs60268710	3734;3154	A7Y9J9;E9PBJ0	.;.	M	3151;3154;3123;3111	ENSP00000436812:T3151M;ENSP00000415793:T3154M	ENSP00000343037:T3123M	T	+	2	0	MUC5B	1224138	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.828000	0.01702	-1.881000	0.01123	-0.708000	0.03648	ACG	C|0.929;T|0.071	0.071	strong		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1267562	C	T	1267562	3	4	22	1	0	0	0	0	1	0	0	0	9979	536	19	1	9583	1	MUC5B	11	1267562	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	237	1267562	133738954	5885	10993										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1267917	1267917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacagccacaccctcctcTactccagagactgtccacac	4	20	1	1	rs3021163		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1267917T>C	ENST00000529681.1	+	31	9865	c.9807T>C	c.(9805-9807)tcT>tcC	p.S3269S	MUC5B_ENST00000447027.1_Silent_p.S3272S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3269	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCTCCTCTACTCCAGAGA	0.647																																					p.S3269S		Atlas-SNP	.											MUC5B,NS,neuroblastoma,0,2	MUC5B	473	2	0			c.T9807C						PASS	.						107	138	128					11																	1267917		2063	4169	6232	SO:0001819	synonymous_variant	727897	exon31			CTCCTCTACTCCA	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9807T>C	11.37:g.1267917T>C		Somatic	395	1	0.00253165		WXS	Illumina HiSeq	Phase_I	377	141	0.374005	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|1.000;|0.000	1.000	weak		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1267917	T	C	1267917	2	2	22	1	0	0	0	0	0	0	0	1	9979	1509	53	3		3	MUC5B	11	1267917	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	355	1267917	133738599	5886	10994										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1268064	1268064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaccacgggcttcacagcCaccccctcctccagcccagg	7	21	1	0	rs200948102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1268064C>T	ENST00000529681.1	+	31	10012	c.9954C>T	c.(9952-9954)gcC>gcT	p.A3318A	MUC5B_ENST00000447027.1_Silent_p.A3321A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3318	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTTCACAGCCACCCCCTCCT	0.652													c|||	1636	0.326677	0.2156	0.3256	5008	,	,		19867	0.5387		0.2853	False		,,,				2504	0.3016				p.A3318A		Atlas-SNP	.											MUC5B,NS,carcinoma,0,2	MUC5B	473	2	0			c.C9954T						PASS	.						15	28	24					11																	1268064		1776	4009	5785	SO:0001819	synonymous_variant	727897	exon31			CACAGCCACCCCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9954C>T	11.37:g.1268064C>T		Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	365	171	0.468493	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.753	-0.051234	0.07407	.	.	ENSG00000117983	ENST00000538459	.	.	.	3.18	0.963	0.19649	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.38908	-0.9639	4	0.02654	T	1	.	6.2137	0.20644	0.3708:0.4477:0.1814:0.0	.	.	.	.	Y	201	.	ENSP00000442622:H201Y	H	+	1	0	MUC5B	1224640	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.998000	0.03701	-0.041000	0.13558	0.305000	0.20034	CAC	C|0.846;T|0.154	0.154	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1268064	C	T	1268064	2	4	22	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC5B	11	1268064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147	1268064	133738452	5887	10995										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1268513	1268513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagtccccacacggtgcGcacagcctggacttcggcca	11	17	0	0	rs2943529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1268513G>C	ENST00000529681.1	+	31	10461	c.10403G>C	c.(10402-10404)cGc>cCc	p.R3468P	MUC5B_ENST00000447027.1_Missense_Mutation_p.R3471P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3468	7 X Cys-rich subdomain repeats.|Thr-rich.		R -> P (in dbSNP:rs2943529). {ECO:0000269|PubMed:9013550}.	Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACGGTGCGCACAGCCTGG	0.677													-|||	2474	0.49401	0.4002	0.5591	5008	,	,		19180	0.6558		0.4533	False		,,,				2504	0.4499				p.R3468P		Atlas-SNP	.											.	MUC5B	473	.	0			c.G10403C						PASS	.	C	PRO/ARG	1603,2577		380,843,867	69	94	86		10403	-0.6	0	11	dbSNP_101	86	3901,4509		996,1909,1300	no	missense	MUC5B	NM_002458.2	103	1376,2752,2167	CC,CG,GG		46.3853,38.3493,43.7172	benign	3468/5763	1268513	5504,7086	2090	4205	6295	SO:0001583	missense	727897	exon31			CGGTGCGCACAGC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10403G>C	11.37:g.1268513G>C	ENSP00000436812:p.Arg3468Pro	Somatic	476	0	0		WXS	Illumina HiSeq	Phase_I	715	422	0.59021	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1113	0.5096153846153846	200	0.4065040650406504	184	0.5082872928176796	388	0.6783216783216783	341	0.449868073878628	g	3.574	-0.086941	0.07097	0.383493	0.463853	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22134	1.97;2.15	1.68	-0.591	0.11675	.	.	.	.	.	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B;B	0.21606	0.058;0.0	B;B	0.27500	0.08;0.0	T	0.26087	-1.0113	8	0.87932	D	0	.	5.8264	0.18556	0.0:0.5015:0.371:0.1274	.	3996;3471	A7Y9J9;E9PBJ0	.;.	P	3468;3471;3440;3373	ENSP00000436812:R3468P;ENSP00000415793:R3471P	ENSP00000343037:R3440P	R	+	2	0	MUC5B	1225089	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.554000	0.00926	-0.555000	0.06142	-0.647000	0.03941	CGC	G|0.497;C|0.503	0.503	strong		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1268513	G	C	1268513	3	2	22	1	0	0	0	0	1	0	0	0	9979	1087	38	4	10534	4	MUC5B	11	1268513	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	449	1268513	133738003	5888	10996										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1268528	1268528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcgcacagcctggacttCggccacctcgggcatcttgg	14	14	1	0	rs202008769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1268528C>T	ENST00000529681.1	+	31	10476	c.10418C>T	c.(10417-10419)tCg>tTg	p.S3473L	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3476L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3473	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTGGACTTCGGCCACCTCG	0.672													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		18693	0.0		0.0	False		,,,				2504	0.0				p.S3473L		Atlas-SNP	.											MUC5B,colon,carcinoma,0,4	MUC5B	473	4	0			c.C10418T						PASS	.	C	LEU/SER	11,4213		0,11,2101	60	85	77		10418	0	0	11		77	2,8406		0,2,4202	no	missense	MUC5B	NM_002458.2	145	0,13,6303	TT,TC,CC		0.0238,0.2604,0.1029	benign	3473/5763	1268528	13,12619	2112	4204	6316	SO:0001583	missense	727897	exon31			GGACTTCGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10418C>T	11.37:g.1268528C>T	ENSP00000436812:p.Ser3473Leu	Somatic	462	0	0		WXS	Illumina HiSeq	Phase_I	657	250	0.380518	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	4.864	0.160630	0.09287	0.002604	2.38E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20598	2.06;2.24	2.0	0.00491	0.14060	.	.	.	.	.	T	0.16811	0.0404	L	0.50333	1.59	0.09310	N	1	B;B	0.33494	0.414;0.001	B;B	0.29716	0.106;0.0	T	0.18745	-1.0327	9	0.87932	D	0	.	5.899	0.18955	0.0:0.6851:0.0:0.3149	.	4001;3476	A7Y9J9;E9PBJ0	.;.	L	3473;3476;3445;3378	ENSP00000436812:S3473L;ENSP00000415793:S3476L	ENSP00000343037:S3445L	S	+	2	0	MUC5B	1225104	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-1.189000	0.03061	0.007000	0.14760	-0.712000	0.03635	TCG	.	.	weak		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1268528	C	T	1268528	3	4	22	1	0	0	0	0	1	0	0	0	9979	893	31	1	10549	1	MUC5B	11	1268528	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	1268528	133737988	5889	10997										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1269835	1269835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacggtgaccccctcctccGtcccggggaccacccacacc	8	23	0	1	rs2943521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1269835G>A	ENST00000529681.1	+	31	11783	c.11725G>A	c.(11725-11727)Gtc>Atc	p.V3909I	MUC5B_ENST00000447027.1_Missense_Mutation_p.V3912I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3909	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			V -> I (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCTCCTCCGTCCCGGGGAC	0.652													A|||	2311	0.461462	0.3185	0.5418	5008	,	,		14910	0.6567		0.4205	False		,,,				2504	0.4387				p.V3909I		Atlas-SNP	.											.	MUC5B	473	.	0			c.G11725A						PASS	.						90	102	98					11																	1269835		2055	4169	6224	SO:0001583	missense	727897	exon31			TCCTCCGTCCCGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11725G>A	11.37:g.1269835G>A	ENSP00000436812:p.Val3909Ile	Somatic	476	1	0.00210084		WXS	Illumina HiSeq	Phase_I	474	234	0.493671	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	797	0.3649267399267399	99	0.20121951219512196	132	0.36464088397790057	322	0.5629370629370629	244	0.32189973614775724	A	4.241	0.043603	0.08196	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	3.11	-6.22	0.02058	.	.	.	.	.	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.51317	-0.8721	8	0.87932	D	0	.	1.5831	0.02638	0.1585:0.328:0.222:0.2914	rs59902608	4437;3912	A7Y9J9;E9PBJ0	.;.	I	3909;3912;3853;3814	ENSP00000436812:V3909I;ENSP00000415793:V3912I	ENSP00000343037:V3853I	V	+	1	0	MUC5B	1226411	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.108000	0.15396	-4.491000	0.00046	-0.848000	0.03037	GTC	G|0.614;A|0.386	0.386	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1269835	G	A	1269835	3	1	22	1	0	0	0	0	1	0	0	0	9979	1145	40	1	11856	1	MUC5B	11	1269835	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1307	1269835	133736681	5890	10998										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271321	1271321	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagccactacaactgcagCcactggccccacggccaccc	8	20	0	0	rs2943517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1271321C>G	ENST00000529681.1	+	31	13269	c.13211C>G	c.(13210-13212)gCc>gGc	p.A4404G	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4407G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4404	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		A -> G (in dbSNP:rs2943517). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACTGCAGCCACTGGCCCC	0.647													-|||	2263	0.451877	0.3071	0.5447	5008	,	,		17919	0.629		0.4195	False		,,,				2504	0.4325				p.A4404G		Atlas-SNP	.											MUC5B,caecum,carcinoma,+1,2	MUC5B	473	2	0			c.C13211G						PASS	.						51	64	60					11																	1271321		1918	4115	6033	SO:0001583	missense	727897	exon31			CTGCAGCCACTGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13211C>G	11.37:g.1271321C>G	ENSP00000436812:p.Ala4404Gly	Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	353	185	0.524079	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.216	0.038984	0.08148	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17370	2.28;2.47	2.36	-0.666	0.11399	.	.	.	.	.	T	0.18215	0.0437	L	0.54323	1.7	0.80722	P	0.0	P;P	0.51933	0.86;0.949	B;P	0.46825	0.431;0.528	T	0.20605	-1.0270	8	0.87932	D	0	.	5.3307	0.15930	0.0:0.5875:0.0:0.4125	rs2943517	4877;4407	A7Y9J9;E9PBJ0	.;.	G	4404;4407;4348;4254;183	ENSP00000436812:A4404G;ENSP00000415793:A4407G	ENSP00000343037:A4348G	A	+	2	0	MUC5B	1227897	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.172000	0.09868	-0.552000	0.06167	-0.706000	0.03657	GCC	C|0.633;G|0.367	0.367	strong		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1271321	C	G	1271321	3	3	22	1	0	0	0	0	1	0	0	0	9979	739	26	4	13342	4	MUC5B	11	1271321	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1486	1271321	133735195	5891	10999										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271429	1271429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactggatccacggccacccCgtcctccaccccagggacca	8	21	0	0	rs2943516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1271429C>T	ENST00000529681.1	+	31	13377	c.13319C>T	c.(13318-13320)cCg>cTg	p.P4440L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P4443L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4440	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		P -> L (in dbSNP:rs2943516). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.682													-|||	2339	0.467053	0.3222	0.5476	5008	,	,		18729	0.6518		0.4423	False		,,,				2504	0.4407				p.P4440L		Atlas-SNP	.											.	MUC5B	473	.	0			c.C13319T						PASS	.	C	LEU/PRO	1253,2885		195,863,1011	105	124	118		13319	-0.1	0	11	dbSNP_101	118	3605,4779		799,2007,1386	no	missense	MUC5B	NM_002458.2	98	994,2870,2397	TT,TC,CC		42.9986,30.2803,38.7957	benign	4440/5763	1271429	4858,7664	2069	4192	6261	SO:0001583	missense	727897	exon31			CCACCCCGTCCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13319C>T	11.37:g.1271429C>T	ENSP00000436812:p.Pro4440Leu	Somatic	443	1	0.00225734		WXS	Illumina HiSeq	Phase_I	470	208	0.442553	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1045	0.4784798534798535	151	0.30691056910569103	181	0.5	386	0.6748251748251748	327	0.4313984168865435	-	5.129	0.209405	0.09757	0.302803	0.429986	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17854	2.25;2.44	2.45	-0.0467	0.13846	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.31931	0.347;0.347	B;B	0.13407	0.005;0.009	T	0.29336	-1.0015	8	0.87932	D	0	.	4.2572	0.10722	0.0:0.5967:0.2354:0.1679	rs2943516	4913;4443	A7Y9J9;E9PBJ0	.;.	L	4440;4443;4384;4290;219	ENSP00000436812:P4440L;ENSP00000415793:P4443L	ENSP00000343037:P4384L	P	+	2	0	MUC5B	1228005	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.119000	0.15626	0.155000	0.19261	0.298000	0.19748	CCG	C|0.521;T|0.479	0.479	strong		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1271429	C	T	1271429	3	4	22	1	0	0	0	0	1	0	0	0	9979	652	23	1	13450	1	MUC5B	11	1271429	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108	1271429	133735087	5892	11000										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271582	1271582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacgacacccacagtcaCcagctccaaagccactccct	6	20	1	0	rs200110193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1271582C>T	ENST00000529681.1	+	31	13530	c.13472C>T	c.(13471-13473)aCc>aTc	p.T4491I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4494I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4491	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGTCACCAGCTCCAAA	0.642													C|||	68	0.0135783	0.0469	0.0086	5008	,	,		18910	0.0		0.0	False		,,,				2504	0.0				p.T4491I		Atlas-SNP	.											.	MUC5B	473	.	0			c.C13472T						PASS	.	C	ILE/THR	95,4235		2,91,2072	114	152	139		13472	0.4	0	11		139	0,8520		0,0,4260	no	missense	MUC5B	NM_002458.2	89	2,91,6332	TT,TC,CC		0.0,2.194,0.7393	probably-damaging	4491/5763	1271582	95,12755	2165	4260	6425	SO:0001583	missense	727897	exon31			CAGTCACCAGCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13472C>T	11.37:g.1271582C>T	ENSP00000436812:p.Thr4491Ile	Somatic	827	2	0.00241838		WXS	Illumina HiSeq	Phase_I	596	279	0.468121	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	1.101	-0.661133	0.03454	0.02194	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.25749	1.78;1.97	0.399	0.399	0.16325	.	.	.	.	.	T	0.22475	0.0542	L	0.60455	1.87	0.09310	N	1	D;D	0.58970	0.984;0.984	P;P	0.59595	0.86;0.86	T	0.08351	-1.0726	8	0.87932	D	0	.	.	.	.	.	4964;4494	A7Y9J9;E9PBJ0	.;.	I	4491;4494;4435;4341;270	ENSP00000436812:T4491I;ENSP00000415793:T4494I	ENSP00000343037:T4435I	T	+	2	0	MUC5B	1228158	0.000000	0.05858	0.019000	0.16419	0.023000	0.10783	-0.180000	0.09754	0.440000	0.26502	0.162000	0.16502	ACC	.	.	weak		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1271582	C	T	1271582	3	4	22	1	0	0	0	0	1	0	0	0	9979	507	18	2	13603	2	MUC5B	11	1271582	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	153	1271582	133734934	5893	11001										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1272246	1272246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccagtgctgaccagcacGgccaccacacccgcagccac	8	21	0	1	rs115045504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1272246G>A	ENST00000529681.1	+	31	14194	c.14136G>A	c.(14134-14136)acG>acA	p.T4712T	MUC5B_ENST00000447027.1_Silent_p.T4715T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4712	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		T -> M (in dbSNP:rs2943511). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		tgaccagcacggccaccacac	0.617													g|||	69	0.013778	0.0477	0.0086	5008	,	,		18297	0.0		0.0	False		,,,				2504	0.0				p.T4712T		Atlas-SNP	.											MUC5B,colon,carcinoma,+1,2	MUC5B	473	2	0			c.G14136A						PASS	.	G		97,4189		3,91,2049	108	139	128		14136	-3.3	0	11	dbSNP_132	128	0,8456		0,0,4228	no	coding-synonymous	MUC5B	NM_002458.2		3,91,6277	AA,AG,GG		0.0,2.2632,0.7613		4712/5763	1272246	97,12645	2143	4228	6371	SO:0001819	synonymous_variant	727897	exon31			CAGCACGGCCACC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14136G>A	11.37:g.1272246G>A		Somatic	551	2	0.00362976		WXS	Illumina HiSeq	Phase_I	520	253	0.486538	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			G|0.988;A|0.012	0.012	strong		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1272246	G	A	1272246	2	1	22	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1272246	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	664	1272246	133734270	5894	11002										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1272858	1272858	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagcagcctgccaaccttCagcgtgtccactgtgtcctc	8	18	1	0	rs4963059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1272858C>T	ENST00000529681.1	+	31	14806	c.14748C>T	c.(14746-14748)ttC>ttT	p.F4916F	MUC5B_ENST00000447027.1_Silent_p.F4919F|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4916	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCCAACCTTCAGCGTGTCCA	0.642													C|||	1697	0.338858	0.2141	0.33	5008	,	,		19521	0.6052		0.2853	False		,,,				2504	0.2945				p.F4916F		Atlas-SNP	.											.	MUC5B	473	.	0			c.C14748T						PASS	.	C		833,3505		82,669,1418	58	68	65		14748	0.6	0	11	dbSNP_111	65	2509,6001		390,1729,2136	no	coding-synonymous	MUC5B	NM_002458.2		472,2398,3554	TT,TC,CC		29.483,19.2024,26.0118		4916/5763	1272858	3342,9506	2169	4255	6424	SO:0001819	synonymous_variant	727897	exon31			AACCTTCAGCGTG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14748C>T	11.37:g.1272858C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	90	50	0.555556	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.663;T|0.337	0.337	strong		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1272858	C	T	1272858	2	4	22	1	0	0	0	0	0	0	0	1	9979	825	29	2		2	MUC5B	11	1272858	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	612	1272858	133733658	5895	11003										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1276327	1276327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgggacggaaccactgccGccagttgcaaggacatggcc	14	13	0	0	rs3829224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1276327G>A	ENST00000529681.1	+	36	15779	c.15721G>A	c.(15721-15723)Gcc>Acc	p.A5241T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5244T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5241	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACCACTGCCGCCAGTTGCAA	0.682													G|||	649	0.129593	0.1089	0.1282	5008	,	,		10373	0.2768		0.003	False		,,,				2504	0.137				p.A5241T		Atlas-SNP	.											.	MUC5B	473	.	0			c.G15721A						PASS	.	G	THR/ALA	322,3860		16,290,1785	19	26	24		15721	-8.4	0	11	dbSNP_107	24	13,8351		0,13,4169	yes	missense	MUC5B	NM_002458.2	58	16,303,5954	AA,AG,GG		0.1554,7.6997,2.6702	benign	5241/5763	1276327	335,12211	2091	4182	6273	SO:0001583	missense	727897	exon36			ACTGCCGCCAGTT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15721G>A	11.37:g.1276327G>A	ENSP00000436812:p.Ala5241Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	160	83	0.51875	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	234	0.10714285714285714	51	0.10365853658536585	37	0.10220994475138122	144	0.2517482517482518	2	0.002638522427440633	G	9.622	1.134084	0.21123	0.076997	0.001554	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.15139	2.45;2.64	4.19	-8.39	0.00969	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.12630	0.003;0.006	B;B	0.04013	0.001;0.001	T	0.43940	-0.9360	8	0.87932	D	0	.	0.5699	0.00694	0.3961:0.1875:0.1911:0.2253	rs3829224	5578;5244	A7Y9J9;E9PBJ0	.;.	T	5241;5244;5185;140;4953	ENSP00000436812:A5241T;ENSP00000415793:A5244T	ENSP00000343037:A5185T	A	+	1	0	MUC5B	1232903	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.161000	0.01278	-1.669000	0.01470	-1.856000	0.00563	GCC	G|0.887;A|0.113	0.113	strong		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1276327	G	A	1276327	3	1	22	1	0	0	0	0	1	0	0	0	9979	1087	38	1	15872	1	MUC5B	11	1276327	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3469	1276327	133730189	5896	11004										
KRTAP5-1	387264	hgsc.bcm.edu	37	chr11	1605983	1605983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccccacaagaaccacagGcccccttggagcacccacag	8	19	0	1	rs59007122		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1605983G>C	ENST00000382171.2	-	1	530	c.497C>G	c.(496-498)gCc>gGc	p.A166G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	166	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGAACCACAGGCCCCCTTGGA	0.657																																					p.A166G		Atlas-SNP	.											KRTAP5-1,caecum,carcinoma,0,3	KRTAP5-1	74	3	0			c.C497G						scavenged	.																																			SO:0001583	missense	387264	exon1			CCACAGGCCCCCT	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.497C>G	11.37:g.1605983G>C	ENSP00000371606:p.Ala166Gly	Somatic	239	13	0.0543933		WXS	Illumina HiSeq	Phase_I	245	25	0.102041	NM_001005922		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	0.306	-0.971005	0.02232	.	.	ENSG00000205869	ENST00000382171	T	0.03860	3.78	3.47	2.54	0.30619	.	.	.	.	.	T	0.01189	0.0039	N	0.00134	-2.025	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.44817	-0.9303	9	0.39692	T	0.17	.	5.0286	0.14398	0.0:0.6557:0.2202:0.1241	rs59007122	166	Q6L8H4	KRA51_HUMAN	G	166	ENSP00000371606:A166G	ENSP00000371606:A166G	A	-	2	0	KRTAP5-1	1562559	0.000000	0.05858	0.726000	0.30738	0.031000	0.12232	-0.388000	0.07352	0.444000	0.26612	-0.803000	0.03203	GCC	G|0.500;C|0.500	0.500	weak		0.657	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		C	1605983	G	C	1605983	3	2	22	1	0	0	0	0	1	0	0	0	8558	1203	42	4	343	4	KRTAP5-1	11	1605983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	329656	1605983	133400533	5897	11005										
KRTAP5-1	387264	hgsc.bcm.edu	37	chr11	1606150	1606150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttggatcccccacaagaGccacagccccccttggagcc	8	20	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																					p.G110G		Atlas-SNP	.											.	KRTAP5-1	74	.	0			c.C330T						PASS	.						28	40	36					11																	1606150		2036	4035	6071	SO:0001819	synonymous_variant	387264	exon1			ACAAGAGCCACAG	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330C>T	11.37:g.1606150G>A		Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	102	42	0.411765	NM_001005922		Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																			.	.	none		0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		A	1606150	G	A	1606150	2	1	22	1	0	0	0	0	0	0	0	1	8558	958	34	2		2	KRTAP5-1	11	1606150	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	167	1606150	133400366	5898	11006										
KRTAP5-3	387266	hgsc.bcm.edu	37	chr11	1628965	1628965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagcagggcttgcagcaGctggactggcagcaggatga	18	8	0	1	rs57186801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1628965G>A	ENST00000399685.1	-	1	728	c.651C>T	c.(649-651)agC>agT	p.S217S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	217	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCTTgcagcagctggactggc	0.607													g|||	2317	0.46266	0.4962	0.4524	5008	,	,		18609	0.3889		0.5239	False		,,,				2504	0.4376				p.S217S		Atlas-SNP	.											.	KRTAP5-3	33	.	0			c.C651T						PASS	.	G		2171,2233	571.1+/-383.0	545,1081,576	142	148	146		651	1.2	1	11	dbSNP_129	146	4694,3904	603.4+/-394.7	1312,2070,917	no	coding-synonymous	KRTAP5-3	NM_001012708.2		1857,3151,1493	AA,AG,GG		45.4059,49.2961,47.2004		217/239	1628965	6865,6137	2202	4299	6501	SO:0001819	synonymous_variant	387266	exon1			GCAGCAGCTGGAC	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.651C>T	11.37:g.1628965G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	201	200	0.995025	NM_001012708	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																			G|0.525;A|0.475	0.475	strong		0.607	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1628965	G	A	1628965	2	1	22	1	0	0	0	0	0	0	0	1	8562	962	34	2		2	KRTAP5-3	11	1628965	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22815	1628965	133377551	5899	11007										
KRTAP5-3	387266	hgsc.bcm.edu	37	chr11	1628992	1628992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcagcaggatgacccacaGcctgaggagcagcagcaggg	16	11	0	2	rs60210378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1628992G>A	ENST00000399685.1	-	1	701	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	208	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		atgacccacagcctgaggagc	0.617													g|||	2309	0.461062	0.4939	0.4467	5008	,	,		17035	0.3879		0.5239	False		,,,				2504	0.4376				p.G208G		Atlas-SNP	.											KRTAP5-3,NS,carcinoma,0,1	KRTAP5-3	33	1	0			c.C624T						PASS	.						111	121	118					11																	1628992		2201	4295	6496	SO:0001819	synonymous_variant	387266	exon1			CCCACAGCCTGAG	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.624C>T	11.37:g.1628992G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	191	186	0.973822	NM_001012708	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																			G|0.561;A|0.439	0.439	strong		0.617	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1628992	G	A	1628992	2	1	22	1	0	0	0	0	0	0	0	1	8562	958	34	2		2	KRTAP5-3	11	1628992	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	1628992	133377524	5900	11008										
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643073	1643073	+	Frame_Shift_Del	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccccttggaacccccaCaagagccatagccccccttg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1643073delC	ENST00000399682.1	-	1	295	c.251delG	c.(250-252)tgtfs	p.C84fs		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAACCCCCACAAGAGCCATA	0.667																																					p.C84fs		Atlas-Indel	.											KRTAP5-4,NS,carcinoma,0,1	KRTAP5-4	78	1	0			c.252delT						PASS	.						9	15	13					11																	1643073		682	1575	2257	SO:0001589	frameshift_variant	387267	exon1			.	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.251delG	11.37:g.1643073delC	ENSP00000382590:p.Cys84fs	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	284	23	0.0809859	NM_001012709		Frame_Shift_Del	DEL	ENST00000399682.1	37																																																																																				.	.	none		0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		-	1643073	C	-	1643073	7	5	22	1	0	1	0	1	0	0	0	0	8563	478	17	0	439	0	KRTAP5-4	11	1643073	Frame_Shift_Del	DEL	C	TCGA-G8-6324-01A-11D-2210-10	14081	1643073	133363443	5901	11009										
SYT8	90019	hgsc.bcm.edu	37	chr11	1857762	1857762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccgtctgccactgggcacCgtggatctgcagcatgttct	11	14	3	0	rs3741230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1857762C>T	ENST00000381968.3	+	6	794	c.666C>T	c.(664-666)acC>acT	p.T222T	SYT8_ENST00000341958.3_Silent_p.T208T|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	222					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACTGGGCACCGTGGATCTGC	0.657													C|||	457	0.091254	0.0507	0.0749	5008	,	,		14854	0.0724		0.1223	False		,,,				2504	0.1452				p.T222T		Atlas-SNP	.											.	SYT8	29	.	0			c.C666T						PASS	.	C		229,4171		9,211,1980	25	30	28		666	-4.5	0	11	dbSNP_107	28	1000,7590		58,884,3353	no	coding-synonymous	SYT8	NM_138567.3		67,1095,5333	TT,TC,CC		11.6414,5.2045,9.4611		222/402	1857762	1229,11761	2200	4295	6495	SO:0001819	synonymous_variant	90019	exon6			GGGCACCGTGGAT	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.666C>T	11.37:g.1857762C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_138567	A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	CCDS7726.2	200	0.09157509157509157	33	0.06707317073170732	31	0.0856353591160221	48	0.08391608391608392	88	0.11609498680738786	c	10.60	1.396992	0.25205	0.052045	0.116414	ENSG00000149043	ENST00000381978	.	.	.	3.28	-4.52	0.03472	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.23904	-1.0175	3	.	.	.	.	0.2565	0.00212	0.2237:0.2566:0.2221:0.2976	rs3741230	.	.	.	C	221	.	.	R	+	1	0	SYT8	1814338	0.000000	0.05858	0.002000	0.10522	0.572000	0.35998	-2.531000	0.00943	-0.771000	0.04608	0.313000	0.20887	CGT	C|0.910;T|0.090	0.090	strong		0.657	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1857762	C	T	1857762	2	4	22	1	0	0	0	0	0	0	0	1	15477	639	23	1		1	SYT8	11	1857762	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	214689	1857762	133148754	5902	11010										
SYT8	90019	hgsc.bcm.edu	37	chr11	1858076	1858076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggaggctcgaggcctgCgtccaggacttgcaggtgag	17	10	0	1	rs115217397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1858076C>T	ENST00000381968.3	+	7	945	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	SYT8_ENST00000341958.3_Missense_Mutation_p.R259C|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	273	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCGAGGCCTGCGTCCAGGACT	0.682													C|||	38	0.00758786	0.0272	0.0014	5008	,	,		16027	0.0		0.0	False		,,,				2504	0.001				p.R273C		Atlas-SNP	.											.	SYT8	29	.	0			c.C817T						PASS	.	C	CYS/ARG	108,4292	82.4+/-120.9	2,104,2094	37	38	38		817	0.6	0.2	11	dbSNP_132	38	1,8595	1.2+/-3.3	0,1,4297	yes	missense	SYT8	NM_138567.3	180	2,105,6391	TT,TC,CC		0.0116,2.4545,0.8387	probably-damaging	273/402	1858076	109,12887	2200	4298	6498	SO:0001583	missense	90019	exon7			GGCCTGCGTCCAG	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.817C>T	11.37:g.1858076C>T	ENSP00000371394:p.Arg273Cys	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	21	0.368421	NM_138567	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	17|17	0.007783882783882784|0.007783882783882784	17|17	0.034552845528455285|0.034552845528455285	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	13.17|13.17	2.156344|2.156344	0.38021|0.38021	0.024545|0.024545	1.16E-4|1.16E-4	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.69685	.|-0.42;-0.42	3.07|3.07	0.632|0.632	0.17705|0.17705	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	T|T	0.35278|0.35278	0.0926|0.0926	L|L	0.33245|0.33245	0.995|0.995	0.18873|0.18873	N|N	0.999986|0.999986	.|D;D	.|0.63046	.|0.992;0.992	.|P;P	.|0.51918	.|0.684;0.684	T|T	0.40136|0.40136	-0.9579|-0.9579	5|9	.|0.87932	.|D	.|0	.|.	5.0271|5.0271	0.14391|0.14391	0.6967:0.1957:0.1076:0.0|0.6967:0.1957:0.1076:0.0	.|.	.|273;259	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|C	271|273;259	.|ENSP00000371394:R273C;ENSP00000343691:R259C	.|ENSP00000343691:R259C	A|R	+|+	2|1	0|0	SYT8|SYT8	1814652|1814652	0.012000|0.012000	0.17670|0.17670	0.210000|0.210000	0.23637|0.23637	0.473000|0.473000	0.32948|0.32948	-0.050000|-0.050000	0.11904|0.11904	0.015000|0.015000	0.14971|0.14971	0.313000|0.313000	0.20887|0.20887	GCG|CGT	C|0.991;T|0.009	0.009	strong		0.682	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858076	C	T	1858076	3	4	22	1	0	0	0	0	1	0	0	0	15477	768	27	1	843	1	SYT8	11	1858076	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	314	1858076	133148440	5903	11011										
MRPL23	6150	hgsc.bcm.edu	37	chr11	1972229	1972229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcccagcccgaggacaccGtgcagttccggatccccatg	12	16	0	0	rs377324983		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1972229G>A	ENST00000397298.3	+	2	203	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	MRPL23_ENST00000381519.1_Missense_Mutation_p.V40M|MRPL23_ENST00000397294.3_Missense_Mutation_p.V40M|MRPL23_ENST00000397297.3_Missense_Mutation_p.V40M|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000381514.3_Missense_Mutation_p.V40M	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	40					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGAGGACACCGTGCAGTTCCG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.001		0.0	False		,,,				2504	0.0				p.V40M		Atlas-SNP	.											.	MRPL23	14	.	0			c.G118A						PASS	.						38	31	33					11																	1972229		2198	4297	6495	SO:0001583	missense	6150	exon2			GACACCGTGCAGT	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.118G>A	11.37:g.1972229G>A	ENSP00000380466:p.Val40Met	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_021134	A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663671	0.88251	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.46	4.46	0.54185	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.159427	0.41097	U	0.000941	T	0.71921	0.3397	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80522	-0.1345	10	0.72032	D	0.01	.	17.4877	0.87693	0.0:0.0:1.0:0.0	.	40	Q16540	RM23_HUMAN	M	40	ENSP00000380466:V40M;ENSP00000370930:V40M;ENSP00000380465:V40M;ENSP00000370925:V40M;ENSP00000380462:V40M	ENSP00000370925:V40M	V	+	1	0	MRPL23	1928805	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	5.989000	0.70587	2.199000	0.70637	0.491000	0.48974	GTG	.	.	weak		0.657	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		A	1972229	G	A	1972229	3	1	22	1	0	0	0	0	1	0	0	0	9789	1145	40	1	124	1	MRPL23	11	1972229	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	114153	1972229	133034287	5904	11012										
MRPL23	6150	hgsc.bcm.edu	37	chr11	1977552	1977552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgagagccctgaaggcagcGctgccgacgacctctacagc	12	15	1	2	rs12812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:1977552G>A	ENST00000397298.3	+	5	449	c.364G>A	c.(364-366)Gct>Act	p.A122T	MRPL23_ENST00000381519.1_Missense_Mutation_p.A122T|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	122			A -> T (in dbSNP:rs12812). {ECO:0000269|PubMed:11543634}.		translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGAAGGCAGCGCTGCCGACGA	0.647													G|||	715	0.142772	0.0121	0.2032	5008	,	,		12924	0.1389		0.169	False		,,,				2504	0.2536				p.A122T		Atlas-SNP	.											MRPL23,NS,carcinoma,0,1	MRPL23	14	1	0			c.G364A						PASS	.	G	THR/ALA	203,4199	126.1+/-163.2	4,195,2002	83	83	83		364	-6.5	0	11	dbSNP_52	83	1296,7302	255.4+/-280.3	91,1114,3094	yes	missense	MRPL23	NM_021134.3	58	95,1309,5096	AA,AG,GG		15.0733,4.6115,11.5308	benign	122/154	1977552	1499,11501	2201	4299	6500	SO:0001583	missense	6150	exon5			GGCAGCGCTGCCG	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.364G>A	11.37:g.1977552G>A	ENSP00000380466:p.Ala122Thr	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	39	24	0.615385	NM_021134	A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	CCDS31336.1	318	0.14560439560439561	13	0.026422764227642278	68	0.1878453038674033	88	0.15384615384615385	149	0.19656992084432717	G	5.460	0.269875	0.10349	0.046115	0.150733	ENSG00000214026	ENST00000397298;ENST00000381519	T;T	0.14266	2.52;2.52	3.24	-6.48	0.01896	.	.	.	.	.	T	0.00012	0.0000	N	0.11560	0.145	0.50813	P	1.0900000000002574E-4	B	0.06786	0.001	B	0.01281	0.0	T	0.31943	-0.9925	8	0.15499	T	0.54	.	3.0296	0.06102	0.2037:0.1638:0.4707:0.1619	rs12812;rs217212;rs3168309;rs12812	122	Q16540	RM23_HUMAN	T	122	ENSP00000380466:A122T;ENSP00000370930:A122T	ENSP00000370930:A122T	A	+	1	0	MRPL23	1934128	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.103000	0.03329	-3.533000	0.00145	-2.560000	0.00174	GCT	G|0.874;A|0.126	0.126	strong		0.647	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		A	1977552	G	A	1977552	3	1	22	1	0	0	0	0	1	0	0	0	9789	1087	38	1	382	1	MRPL23	11	1977552	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5323	1977552	133028964	5905	11013										
TH	7054	hgsc.bcm.edu	37	chr11	2190951	2190951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaagagcaggtttagcaCggccttcccctccttctcct	10	14	1	2	rs6356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2190951C>T	ENST00000381178.1	-	3	352	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	TH_ENST00000381175.1_Missense_Mutation_p.V108M|TH_ENST00000352909.3_Missense_Mutation_p.V81M|TH_ENST00000333684.5_Missense_Mutation_p.V85M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	112			V -> M (common polymorphism; dbSNP:rs6356). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21940685, ECO:0000269|PubMed:7789962, ECO:0000269|PubMed:9613851}.		anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGTTTAGCACGGCCTTCCCC	0.697													C|||	2156	0.430511	0.1014	0.3919	5008	,	,		15378	0.7877		0.4026	False		,,,				2504	0.5634				p.V112M		Atlas-SNP	.											.	TH	43	.	0			c.G334A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL	623,3779	265.6+/-266.7	36,551,1614	58	60	60	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	241,334,322	-1.8	0	11	dbSNP_52	60	3121,5477	472.4+/-368.3	569,1983,1747	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	21,21,21	605,2534,3361	TT,TC,CC		36.2991,14.1527,28.8	benign,benign,benign	81/498,112/529,108/525	2190951	3744,9256	2201	4299	6500	SO:0001583	missense	7054	exon3			TTAGCACGGCCTT	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.334G>A	11.37:g.2190951C>T	ENSP00000370571:p.Val112Met	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	179	94	0.52514	NM_199292	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	913	0.41804029304029305	52	0.10569105691056911	127	0.35082872928176795	443	0.7744755244755245	291	0.3839050131926121	C	13.68	2.310931	0.40895	0.141527	0.362991	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	3.59	-1.8	0.07907	.	0.577810	0.17552	N	0.170143	T	0.00012	0.0000	L	0.31664	0.95	0.80722	P	0.0	B;B;B;B;B	0.24576	0.037;0.037;0.044;0.016;0.106	B;B;B;B;B	0.21151	0.006;0.006;0.02;0.005;0.033	T	0.41662	-0.9496	9	0.33141	T	0.24	.	4.7289	0.12955	0.0:0.2915:0.2918:0.4167	rs6356;rs57599796;rs6356	85;81;81;112;108	Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;TY3H_HUMAN;.	M	112;108;81;85	ENSP00000370571:V112M;ENSP00000370567:V108M;ENSP00000325951:V81M;ENSP00000328814:V85M	ENSP00000328814:V85M	V	-	1	0	TH	2147527	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.327000	0.07955	-0.189000	0.10482	0.491000	0.48974	GTG	C|0.652;T|0.348	0.348	strong		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2190951	C	T	2190951	3	4	22	1	0	0	0	0	1	0	0	0	15835	536	19	1	1300	1	TH	11	2190951	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	213399	2190951	132815565	5906	11014										
TH	7054	hgsc.bcm.edu	37	chr11	2190982	2190982	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttctcctcaaaggccacAgcctccagggggtccccggg	11	17	2	0	rs7950050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2190982A>G	ENST00000381178.1	-	3	321	c.303T>C	c.(301-303)gcT>gcC	p.A101A	TH_ENST00000352909.3_Silent_p.A70A|TH_ENST00000333684.5_Silent_p.A74A|TH_ENST00000381175.1_Silent_p.A97A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	101					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CAAAGGCCACAGCCTCCAGGG	0.697													G|||	168	0.0335463	0.1233	0.0058	5008	,	,		14629	0.0		0.001	False		,,,				2504	0.0				p.A101A		Atlas-SNP	.											.	TH	43	.	0			c.T303C						PASS	.	G	,,	522,3882	744.0+/-411.5	23,476,1703	32	34	34		210,303,291	-1.3	0.1	11	dbSNP_116	34	13,8583	796.2+/-407.5	0,13,4285	no	coding-synonymous,coding-synonymous,coding-synonymous	TH	NM_000360.3,NM_199292.2,NM_199293.2	,,	23,489,5988	GG,GA,AA		0.1512,11.8529,4.1154	,,	70/498,101/529,97/525	2190982	535,12465	2202	4298	6500	SO:0001819	synonymous_variant	7054	exon3			GGCCACAGCCTCC	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.303T>C	11.37:g.2190982A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	116	62	0.534483	NM_199292	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	CCDS7731.1																																																																																			A|0.952;G|0.048	0.048	strong		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		G	2190982	A	G	2190982	2	3	22	1	0	0	0	0	0	0	0	1	15835	175	7	3		3	TH	11	2190982	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31	2190982	132815534	5907	11015										
TH	7054	hgsc.bcm.edu	37	chr11	2191006	2191006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagggggtccccgggctcCgaggggactgcagcggccgc	18	15	0	0	rs34510659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2191006C>T	ENST00000381178.1	-	3	297	c.279G>A	c.(277-279)tcG>tcA	p.S93S	TH_ENST00000352909.3_Silent_p.S62S|TH_ENST00000333684.5_Silent_p.S66S|TH_ENST00000381175.1_Silent_p.S89S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	93					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCCGGGCTCCGAGGGGACTG	0.711													C|||	122	0.024361	0.0893	0.0058	5008	,	,		13970	0.0		0.0	False		,,,				2504	0.0				p.S93S		Atlas-SNP	.											.	TH	43	.	0			c.G279A						PASS	.	C	,,	343,4043		10,323,1860	17	20	19		186,279,267	-1	0	11	dbSNP_126	19	6,8586		0,6,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	TH	NM_000360.3,NM_199292.2,NM_199293.2	,,	10,329,6150	TT,TC,CC		0.0698,7.8203,2.6892	,,	62/498,93/529,89/525	2191006	349,12629	2193	4296	6489	SO:0001819	synonymous_variant	7054	exon3			GGGCTCCGAGGGG	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.279G>A	11.37:g.2191006C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	68	40	0.588235	NM_199292	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	CCDS7731.1																																																																																			C|0.971;T|0.029	0.029	strong		0.711	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2191006	C	T	2191006	2	4	22	1	0	0	0	0	0	0	0	1	15835	639	23	1		1	TH	11	2191006	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24	2191006	132815510	5908	11016										
TSSC4	10078	hgsc.bcm.edu	37	chr11	2424541	2424541	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaggggtcgaagccagacaCgagaggaagagggtcctggg	19	8	0	3	rs2234279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2424541C>G	ENST00000333256.6	+	3	1121	c.678C>G	c.(676-678)caC>caG	p.H226Q	TSSC4_ENST00000467308.1_Intron|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000451491.2_Missense_Mutation_p.H226Q|TSSC4_ENST00000380996.5_Missense_Mutation_p.H162Q|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	226										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCCAGACACGAGAGGAAGA	0.657													c|||	670	0.133786	0.3411	0.0735	5008	,	,		16131	0.1151		0.0258	False		,,,				2504	0.0266				p.H226Q		Atlas-SNP	.											.	TSSC4	19	.	0			c.C678G						PASS	.	T	GLN/HIS	1263,3139	418.3+/-338.2	200,863,1138	41	49	47		678	-7.3	0	11	dbSNP_98	47	259,8339	97.7+/-159.3	5,249,4045	yes	missense	TSSC4	NM_005706.2	24	205,1112,5183	GG,GC,CC		3.0123,28.6915,11.7077	benign	226/330	2424541	1522,11478	2201	4299	6500	SO:0001583	missense	10078	exon2			CAGACACGAGAGG	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.678C>G	11.37:g.2424541C>G	ENSP00000331087:p.His226Gln	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	183	92	0.502732	NM_005706	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	CCDS7735.1	279	0.12774725274725274	165	0.3353658536585366	30	0.08287292817679558	68	0.11888111888111888	16	0.021108179419525065	c	0.016	-1.531603	0.00951	0.286915	0.030123	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.21191	2.3;2.56;2.02;2.56	3.67	-7.33	0.01431	.	1.177240	0.06289	U	0.698832	T	0.00012	0.0000	N	0.22421	0.69	0.58432	P	1.0000000000287557E-6	B;B	0.33379	0.41;0.41	B;B	0.30179	0.112;0.112	T	0.25293	-1.0136	9	0.32370	T	0.25	-0.1137	4.7935	0.13261	0.0803:0.2104:0.1601:0.5493	rs2234279	226;162	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Q	162;226;162;226	ENSP00000370384:H162Q;ENSP00000331087:H226Q;ENSP00000416937:H162Q;ENSP00000411224:H226Q	ENSP00000331087:H226Q	H	+	3	2	TSSC4	2381117	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-1.962000	0.01514	-2.708000	0.00395	-1.297000	0.01338	CAC	C|0.883;G|0.117	0.117	strong		0.657	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		G	2424541	C	G	2424541	3	3	22	1	0	0	0	0	1	0	0	0	16664	535	19	4	680	4	TSSC4	11	2424541	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	233535	2424541	132581975	5909	11017										
TRPM5	29850	hgsc.bcm.edu	37	chr11	2428434	2428434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagcaggatgaagggcggGgccagggcggggcgctcgtg	22	9	0	2	rs369339407		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2428434G>A	ENST00000155858.6	-	20	3041	c.3033C>T	c.(3031-3033)gcC>gcT	p.A1011A	TRPM5_ENST00000533060.1_Silent_p.A1011A|TRPM5_ENST00000528453.1_Silent_p.A1011A|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Silent_p.A1013A	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGGGCGGGGCCAGGGCGG	0.637																																					p.A1011A	NSCLC(1;49 61 17205 18850 43201)	Atlas-SNP	.											.	TRPM5	86	.	0			c.C3033T						PASS	.						35	34	34					11																	2428434		2198	4299	6497	SO:0001819	synonymous_variant	29850	exon20			GGGCGGGGCCAGG	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.3033C>T	11.37:g.2428434G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	123	70	0.569106	NM_014555		Silent	SNP	ENST00000155858.6	37	CCDS31340.1																																																																																			.	.	weak		0.637	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		A	2428434	G	A	2428434	2	1	22	1	0	0	0	0	0	0	0	1	16586	1219	43	2		2	TRPM5	11	2428434	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3893	2428434	132578082	5910	11018										
TRPM5	29850	hgsc.bcm.edu	37	chr11	2435956	2435956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcactcaccaagggccagcCgctcgtatttcgcctcgcgc	10	17	2	0	rs4929982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2435956C>T	ENST00000155858.6	-	11	1741	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	TRPM5_ENST00000533060.1_Missense_Mutation_p.R578Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.R578Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.R580Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAGGGCCAGCCGCTCGTATTT	0.721													T|||	2649	0.528954	0.4924	0.5663	5008	,	,		13260	0.6597		0.4533	False		,,,				2504	0.4949				p.R578Q	NSCLC(1;49 61 17205 18850 43201)	Atlas-SNP	.											.	TRPM5	86	.	0			c.G1733A						PASS	.	T	GLN/ARG	1688,2054		457,774,640	4	6	5		1733	3.8	1	11	dbSNP_111	5	3146,4326		788,1570,1378	no	missense	TRPM5	NM_014555.3	43	1245,2344,2018	TT,TC,CC		42.1039,45.1096,43.1068	benign	578/1166	2435956	4834,6380	1871	3736	5607	SO:0001583	missense	29850	exon11			GCCAGCCGCTCGT	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1733G>A	11.37:g.2435956C>T	ENSP00000155858:p.Arg578Gln	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_014555		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	1179	0.5398351648351648	259	0.5264227642276422	196	0.5414364640883977	381	0.666083916083916	343	0.4525065963060686	T	7.351	0.622828	0.14193	0.451096	0.421039	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	3.83	3.83	0.44106	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00179	-1.91	0.54753	P	1.799999999996249E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.46105	-0.9215	9	0.02654	T	1	-25.6987	7.4097	0.27011	0.0:0.1022:0.0:0.8978	rs4929982;rs56720767	578;580;578	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	572;578;580;578;578;578	ENSP00000434383:R572Q;ENSP00000155858:R578Q;ENSP00000387965:R580Q;ENSP00000434121:R578Q;ENSP00000436809:R578Q	ENSP00000155858:R578Q	R	-	2	0	TRPM5	2392532	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	2.934000	0.48956	0.646000	0.30693	-0.490000	0.04691	CGG	C|0.459;T|0.541	0.541	strong		0.721	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2435956	C	T	2435956	3	4	22	1	0	0	0	0	1	0	0	0	16586	652	23	1	1820	1	TRPM5	11	2435956	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7522	2435956	132570560	5911	11019										
TRPM5	29850	hgsc.bcm.edu	37	chr11	2439767	2439767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcccctacctccaaggtgTtgggatcaccattgaccagc	10	14	1	1	rs886277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2439767T>C	ENST00000155858.6	-	5	712	c.704A>G	c.(703-705)aAc>aGc	p.N235S	TRPM5_ENST00000528453.1_Missense_Mutation_p.N235S|TRPM5_ENST00000533060.1_Missense_Mutation_p.N235S|TRPM5_ENST00000452833.1_Missense_Mutation_p.N237S	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCCAAGGTGTTGGGATCACC	0.667													C|||	2691	0.53734	0.6407	0.5375	5008	,	,		17424	0.6607		0.3678	False		,,,				2504	0.4448				p.N235S	NSCLC(1;49 61 17205 18850 43201)	Atlas-SNP	.											.	TRPM5	86	.	0			c.A704G						PASS	.	C	SER/ASN	2693,1703	488.7+/-361.3	839,1015,344	41	39	40		704	1.4	1	11	dbSNP_86	40	3312,5282	624.2+/-397.5	650,2012,1635	yes	missense	TRPM5	NM_014555.3	46	1489,3027,1979	CC,CT,TT		38.5385,38.7398,46.2279	benign	235/1166	2439767	6005,6985	2198	4297	6495	SO:0001583	missense	29850	exon5			AAGGTGTTGGGAT	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.704A>G	11.37:g.2439767T>C	ENSP00000155858:p.Asn235Ser	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	190	190	1	NM_014555		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	1160	0.5311355311355311	307	0.6239837398373984	192	0.5303867403314917	381	0.666083916083916	280	0.36939313984168864	C	0.011	-1.713757	0.00706	0.612602	0.385385	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	3.41	1.44	0.22558	.	0.358275	0.27336	N	0.019824	T	0.00012	0.0000	L	0.39898	1.24	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43294	-0.9400	9	0.07813	T	0.8	-17.7773	7.5438	0.27755	0.0:0.6853:0.0:0.3147	rs886277;rs56695969;rs886277	235;237;235	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	S	229;235;237;235;235;235	ENSP00000434383:N229S;ENSP00000155858:N235S;ENSP00000387965:N237S;ENSP00000434121:N235S;ENSP00000436809:N235S	ENSP00000155858:N235S	N	-	2	0	TRPM5	2396343	0.874000	0.30092	1.000000	0.80357	0.459000	0.32528	0.252000	0.18278	0.262000	0.21774	-0.320000	0.08662	AAC	T|0.506;C|0.494	0.494	strong		0.667	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		C	2439767	T	C	2439767	3	2	22	1	0	0	0	0	1	0	0	0	16586	1725	60	2	2873	2	TRPM5	11	2439767	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3811	2439767	132566749	5912	11020										
KCNQ1	3784	hgsc.bcm.edu	37	chr11	2683252	2683252	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatgagaaccaacagcttCgccgaggacctggacctgga	11	12	1	1	rs17215465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:2683252C>T	ENST00000155840.5	+	11	1563	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	KCNQ1_ENST00000335475.5_Silent_p.F358F|KCNQ1OT1_ENST00000597346.1_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	485					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCAACAGCTTCGCCGAGGACC	0.577													C|||	78	0.0155751	0.0514	0.0029	5008	,	,		17275	0.0		0.001	False		,,,				2504	0.0072				p.F485F		Atlas-SNP	.											.	KCNQ1	60	.	0			c.C1455T						PASS	.	C	,	211,4193	128.6+/-165.4	4,203,1995	170	158	162		1455,1074	-5.4	0	11	dbSNP_125	162	7,8591	5.0+/-18.6	0,7,4292	no	coding-synonymous,coding-synonymous	KCNQ1	NM_000218.2,NM_181798.1	,	4,210,6287	TT,TC,CC		0.0814,4.7911,1.6767	,	485/677,358/550	2683252	218,12784	2202	4299	6501	SO:0001819	synonymous_variant	3784	exon11			CAGCTTCGCCGAG	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1455C>T	11.37:g.2683252C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	150	83	0.553333	NM_000218	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	CCDS7736.1																																																																																			C|0.983;T|0.017	0.017	strong		0.577	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2683252	C	T	2683252	2	4	22	1	0	0	0	0	0	0	0	1	8082	883	31	1		1	KCNQ1	11	2683252	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	243485	2683252	132323264	5913	11021										
MRGPRE	116534	hgsc.bcm.edu	37	chr11	3249552	3249552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaactgggtgcaggcgcCgctgagcagcaggtgcagca	17	10	0	2	rs4391795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:3249552C>T	ENST00000389832.5	-	2	784	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.G159S			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	160			G -> S (in dbSNP:rs4391795).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCAGGCGCCGCTGAGCAGC	0.692													C|||	1467	0.292931	0.0953	0.2392	5008	,	,		13177	0.378		0.4523	False		,,,				2504	0.3466				p.G160S		Atlas-SNP	.											.	MRGPRE	35	.	0			c.G478A						PASS	.	C	SER/GLY	481,3647		34,413,1617	5	9	8		475	0.8	0	11	dbSNP_111	8	3172,5086		621,1930,1578	yes	missense	MRGPRE	NM_001039165.2	56	655,2343,3195	TT,TC,CC		38.4112,11.6521,29.493	probably-damaging	159/312	3249552	3653,8733	2064	4129	6193	SO:0001583	missense	116534	exon2			AGGCGCCGCTGAG	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.478G>A	11.37:g.3249552C>T	ENSP00000374482:p.Gly160Ser	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	38	21	0.552632	NM_001039165	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		712	0.326007326007326	37	0.07520325203252033	100	0.27624309392265195	229	0.40034965034965037	346	0.45646437994722955	c	7.476	0.647610	0.14516	0.116521	0.384112	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.75	0.817	0.18773	GPCR, rhodopsin-like superfamily (1);	0.506640	0.14301	U	0.328254	T	0.00012	0.0000	L	0.39397	1.21	0.80722	P	0.0	D	0.61080	0.989	P	0.55455	0.776	T	0.44697	-0.9311	8	0.24483	T	0.36	-11.0184	5.6296	0.17504	0.0:0.6298:0.0:0.3702	rs4391795;rs4990224	159	Q86SM8	MRGRE_HUMAN	S	160;159	.	ENSP00000374482:G159S	G	-	1	0	MRGPRE	3206128	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.733000	0.26087	-0.017000	0.14103	-0.229000	0.12294	GGC	C|0.673;T|0.327	0.327	strong		0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249552	C	T	3249552	3	4	22	1	0	0	0	0	1	0	0	0	9764	652	23	1	464	1	MRGPRE	11	3249552	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	566300	3249552	131756964	5914	11022										
ZNF195	7748	hgsc.bcm.edu	37	chr11	3383015	3383015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaggcctggctgggcacGgtggttcacacctgtaatcc	13	11	1	1	rs7125523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:3383015G>A	ENST00000399602.4	-	4	457	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF195_ENST00000354599.6_Intron|ZNF195_ENST00000438262.2_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.R111C|ZNF195_ENST00000526601.1_Missense_Mutation_p.R115C|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Intron|ZNF195_ENST00000343338.7_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	111	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ggctgggcacggtggttcaca	0.502													g|||	110	0.0219649	0.0794	0.0072	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0				p.R115C		Atlas-SNP	.											.	ZNF195	77	.	0			c.C343T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG,,,	87,1297		0,87,605	184	176	179		331,331,343,,,	-0.4	0	11	dbSNP_116	179	4,3178		0,4,1587	yes	missense,missense,missense,intron,intron,intron	ZNF195	NM_001130519.2,NM_001130520.2,NM_001242841.1,NM_001242842.1,NM_001242843.1,NM_007152.4	180,180,180,,,	0,91,2192	AA,AG,GG		0.1257,6.2861,1.993	possibly-damaging,possibly-damaging,possibly-damaging,,,	111/607,111/630,115/611,,,	3383015	91,4475	692	1591	2283	SO:0001583	missense	7748	exon5			GGGCACGGTGGTT		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.331C>T	11.37:g.3383015G>A	ENSP00000382511:p.Arg111Cys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	50	29	0.58	NM_001242841	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	43	0.019688644688644688	39	0.07926829268292683	4	0.011049723756906077	0	0.0	0	0.0	g	0.950	-0.706656	0.03230	0.062861	0.001257	ENSG00000005801	ENST00000399602;ENST00000005082;ENST00000526601;ENST00000533036;ENST00000534569	T;T;T;T;T	0.14766	5.12;5.12;5.12;5.12;2.48	0.225	-0.451	0.12214	.	.	.	.	.	T	0.00271	0.0008	N	0.25992	0.78	0.09310	N	1	B;B;P	0.50710	0.0;0.0;0.938	B;B;B	0.22753	0.0;0.0;0.041	T	0.33727	-0.9857	8	0.56958	D	0.05	.	.	.	.	rs7125523	115;111;111	O14628-6;O14628-5;O14628	.;.;ZN195_HUMAN	C	111;111;115;130;115	ENSP00000382511:R111C;ENSP00000005082:R111C;ENSP00000435828:R115C;ENSP00000433911:R130C;ENSP00000437265:R115C	ENSP00000005082:R111C	R	-	1	0	ZNF195	3339591	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.653000	0.05360	-1.864000	0.01148	-1.842000	0.00583	CGT	G|0.980;A|0.020	0.020	strong		0.502	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			A	3383015	G	A	3383015	3	1	22	1	0	0	0	0	1	0	0	0	17755	1116	39	1	1570	1	ZNF195	11	3383015	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133463	3383015	131623501	5915	11023										
NUP98	4928	hgsc.bcm.edu	37	chr11	3714489	3714489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcttcatacatgctgagCgccctagaaatggaggctgt	11	10	2	2	rs1875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:3714489C>T	ENST00000324932.7	-	27	4704	c.4284G>A	c.(4282-4284)gcG>gcA	p.A1428A	NUP98_ENST00000359171.4_Silent_p.A1428A|NUP98_ENST00000355260.3_Silent_p.A1428A|NUP98_ENST00000488828.1_5'Flank|snoU13_ENST00000458786.1_RNA	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1445					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACATGCTGAGCGCCCTAGAAA	0.448			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C|||	1381	0.275759	0.3608	0.0965	5008	,	,		17398	0.3185		0.1938	False		,,,				2504	0.3282				p.A1428A		Atlas-SNP	.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	NUP98	149	.	0			c.G4284A						PASS	.	C	,	1444,2958	470.0+/-355.6	241,962,998	163	163	163		4284,4284	-4.2	1	11	dbSNP_36	163	1465,7131	279.7+/-294.1	138,1189,2971	no	coding-synonymous,coding-synonymous	NUP98	NM_016320.4,NM_139132.3	,	379,2151,3969	TT,TC,CC		17.0428,32.8033,22.3804	,	1428/1801,1428/1727	3714489	2909,10089	2201	4298	6499	SO:0001819	synonymous_variant	4928	exon27			GCTGAGCGCCCTA	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4284G>A	11.37:g.3714489C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	76	29	0.381579	NM_016320	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1	546	0.25	178	0.3617886178861789	38	0.10497237569060773	186	0.32517482517482516	144	0.18997361477572558	C	10.09	1.253636	0.22965	0.328033	0.170428	ENSG00000110713	ENST00000429801	.	.	.	5.65	-4.15	0.03881	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.30851	-0.9964	5	0.62326	D	0.03	-17.5027	0.5337	0.00633	0.382:0.1448:0.1736:0.2996	rs1875;rs3740668;rs17173889;rs58248468;rs1875	.	.	.	T	381	.	ENSP00000413146:A381T	A	-	1	0	NUP98	3671065	0.410000	0.25376	0.989000	0.46669	0.919000	0.55068	-0.501000	0.06398	-0.463000	0.06973	-1.397000	0.01146	GCT	C|0.757;N|0.000	.	strong		0.448	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3714489	C	T	3714489	2	4	22	1	0	0	0	0	0	0	0	1	10773	755	27	1		1	NUP98	11	3714489	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	331474	3714489	131292027	5916	11024										
OR52K2	119774	hgsc.bcm.edu	37	chr11	4471276	4471276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgcctctcaggaggcccGctacaaggcatttgggacat	12	12	1	0	rs331537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4471276G>A	ENST00000325719.4	+	1	752	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	236			R -> H (in dbSNP:rs331537). {ECO:0000269|Ref.1}.			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(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGGCCCGCTACAAGGCA	0.488													G|||	1116	0.222843	0.7239	0.0879	5008	,	,		22301	0.0347		0.0318	False		,,,				2504	0.0317				p.R236H		Atlas-SNP	.											.	OR52K2	61	.	0			c.G707A						PASS	.	G	HIS/ARG	2604,1798	641.6+/-397.5	782,1040,379	268	228	242		707	4	1	11	dbSNP_79	242	268,8328	101.6+/-162.9	4,260,4034	yes	missense	OR52K2	NM_001005172.2	29	786,1300,4413	AA,AG,GG		3.1177,40.8451,22.0957	benign	236/315	4471276	2872,10126	2201	4298	6499	SO:0001583	missense	119774	exon1			AGGCCCGCTACAA	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.707G>A	11.37:g.4471276G>A	ENSP00000318956:p.Arg236His	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	253	128	0.505929	NM_001005172	A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	439	0.20100732600732601	363	0.7378048780487805	29	0.08011049723756906	23	0.04020979020979021	24	0.0316622691292876	G	11.70	1.718104	0.30503	0.591549	0.031177	ENSG00000181963	ENST00000325719	T	0.00333	8.07	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.140701	0.30126	N	0.010342	T	0.00012	0.0000	M	0.86740	2.835	0.48185	P	3.990000000000382E-4	B	0.18968	0.032	B	0.19391	0.025	T	0.36962	-0.9726	9	0.87932	D	0	.	9.6637	0.39972	0.1047:0.0:0.8953:0.0	rs331537;rs59989102;rs331537	236	Q8NGK3	O52K2_HUMAN	H	236	ENSP00000318956:R236H	ENSP00000318956:R236H	R	+	2	0	OR52K2	4427852	0.001000	0.12720	0.999000	0.59377	0.879000	0.50718	0.949000	0.29109	2.082000	0.62665	0.485000	0.47835	CGC	G|0.792;A|0.208	0.208	strong		0.488	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		A	4471276	G	A	4471276	3	1	22	1	0	0	0	0	1	0	0	0	11124	1087	38	1	709	1	OR52K2	11	4471276	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	756787	4471276	130535240	5917	11025										
OR52K2	119774	hgsc.bcm.edu	37	chr11	4471473	4471473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtcaagaccaagcaaatcCgtgagagcatcttgggagta	12	8	2	2	rs7934336	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4471473C>T	ENST00000325719.4	+	1	949	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	302			R -> C (in dbSNP:rs7934336).			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(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGCAAATCCGTGAGAGCAT	0.498													C|||	633	0.126398	0.3737	0.0706	5008	,	,		21207	0.0347		0.0298	False		,,,				2504	0.0256				p.R302C		Atlas-SNP	.											.	OR52K2	61	.	0			c.C904T						PASS	.	C	CYS/ARG	1407,2995	463.6+/-353.6	216,975,1010	96	92	94		904	2.2	1	11	dbSNP_116	94	235,8361	94.7+/-156.6	4,227,4067	yes	missense	OR52K2	NM_001005172.2	180	220,1202,5077	TT,TC,CC		2.7338,31.9627,12.6327	benign	302/315	4471473	1642,11356	2201	4298	6499	SO:0001583	missense	119774	exon1			CAAATCCGTGAGA	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.904C>T	11.37:g.4471473C>T	ENSP00000318956:p.Arg302Cys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	116	58	0.5	NM_001005172	A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	275	0.1259157509157509	206	0.4186991869918699	24	0.06629834254143646	23	0.04020979020979021	22	0.029023746701846966	C	8.510	0.866352	0.17250	0.319627	0.027338	ENSG00000181963	ENST00000325719	T	0.58358	0.34	4.16	2.24	0.28232	.	0.139494	0.32785	N	0.005660	T	0.00012	0.0000	M	0.79614	2.46	0.27898	P	0.9390894	B	0.18310	0.027	B	0.11329	0.006	T	0.25433	-1.0132	9	0.87932	D	0	.	6.7791	0.23636	0.1741:0.7276:0.0:0.0984	rs7934336;rs52810694;rs7934336	302	Q8NGK3	O52K2_HUMAN	C	302	ENSP00000318956:R302C	ENSP00000318956:R302C	R	+	1	0	OR52K2	4428049	0.817000	0.29147	0.990000	0.47175	0.395000	0.30598	2.067000	0.41461	0.387000	0.25024	0.586000	0.80456	CGT	C|0.868;T|0.132	0.132	strong		0.498	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		T	4471473	C	T	4471473	3	4	22	1	0	0	0	0	1	0	0	0	11124	652	23	1	906	1	OR52K2	11	4471473	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	197	4471473	130535043	5918	11026										
OR52M1	119772	hgsc.bcm.edu	37	chr11	4566870	4566870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcgtttggggcttgtttcTctcctccggggtgttctcta	13	10	2	0	rs61747520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4566870T>C	ENST00000360213.1	+	1	450	c.450T>C	c.(448-450)tcT>tcC	p.S150S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTGTTTCTCTCCTCCGGG	0.532													T|||	133	0.0265575	0.0303	0.0159	5008	,	,		18160	0.0337		0.0288	False		,,,				2504	0.0194				p.S150S		Atlas-SNP	.											OR52M1,right_upper_lobe,carcinoma,+1,1	OR52M1	53	1	0			c.T450C						PASS	.	T		133,4269	97.6+/-136.3	4,125,2072	102	101	101		450	1.1	0.3	11	dbSNP_129	101	272,8324	102.9+/-164.1	5,262,4031	no	coding-synonymous	OR52M1	NM_001004137.1		9,387,6103	CC,CT,TT		3.1643,3.0214,3.1159		150/318	4566870	405,12593	2201	4298	6499	SO:0001819	synonymous_variant	119772	exon1			TGTTTCTCTCCTC	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.450T>C	11.37:g.4566870T>C		Somatic	432	2	0.00462963		WXS	Illumina HiSeq	Phase_I	470	218	0.46383	NM_001004137		Silent	SNP	ENST00000360213.1	37	CCDS31353.1																																																																																			T|0.968;C|0.032	0.032	strong		0.532	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		C	4566870	T	C	4566870	2	2	22	1	0	0	0	0	0	0	0	1	11126	1538	54	3		3	OR52M1	11	4566870	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95397	4566870	130439646	5919	11027										
C11orf40	143501	hgsc.bcm.edu	37	chr11	4592706	4592707	+	Frame_Shift_Ins	INS	-	-	AC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagtagaacacgatccatINSacagtttttccctgcaaaga					rs80310454|rs67702097|rs141600462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4592706_4592707insAC	ENST00000307616.1	-	4	599_600	c.600_601insGT	c.(598-603)tgtatgfs	p.M201fs		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	201										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acacgatccatacagtttttcc	0.426																																					p.M201fs		Pindel	.											.	C11orf40	37	.	0			c.601_602insGT						PASS	.			2670,1456		925,820,318						-0.7	0		dbSNP_130	78	4274,3706		1320,1634,1036	no	frameshift	C11orf40	NM_144663.1		2245,2454,1354	A1A1,A1R,RR		46.4411,35.2884,42.64				6944,5162				SO:0001589	frameshift_variant	143501	exon4			.		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.599_600dupGT	11.37:g.4592707_4592708dupAC	ENSP00000302918:p.Met201fs	Somatic	152	.	.		WXS	Illumina HiSeq	Phase_I	161	46	0.286	NM_144663		Frame_Shift_Ins	INS	ENST00000307616.1	37	CCDS31354.1																																																																																			-|0.377;AC|0.623	0.623	strong		0.426	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		AC	4592707	-	AC	4592706	7	5	22	1	0	1	1	0	0	0	0	0	1639	1406	49	0	55	0	C11orf40	11	4592706	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	25836	4592706	130413810	5920	11028										
C11orf40	143501	hgsc.bcm.edu	37	chr11	4593411	4593411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctaaccagaaagaaagcGtgataagatccattaagtca	8	8	1	4	rs34097396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4593411G>A	ENST00000307616.1	-	3	421	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	141										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAAGAAAGCGTGATAAGATC	0.428													G|||	462	0.0922524	0.2103	0.072	5008	,	,		21422	0.0397		0.0716	False		,,,				2504	0.0225				p.T141M		Atlas-SNP	.											.	C11orf40	37	.	0			c.C422T						PASS	.	G	MET/THR	934,3468	356.4+/-313.5	113,708,1380	146	131	136		422	-1.7	0	11	dbSNP_126	136	593,8003	156.9+/-210.6	30,533,3735	yes	missense	C11orf40	NM_144663.1	81	143,1241,5115	AA,AG,GG		6.8986,21.2176,11.748	benign	141/218	4593411	1527,11471	2201	4298	6499	SO:0001583	missense	143501	exon3			GAAAGCGTGATAA		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.422C>T	11.37:g.4593411G>A	ENSP00000302918:p.Thr141Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	153	78	0.509804	NM_144663		Missense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	199	0.09111721611721611	100	0.2032520325203252	27	0.07458563535911603	24	0.04195804195804196	48	0.0633245382585752	G	0.060	-1.226114	0.01518	0.212176	0.068986	ENSG00000171987	ENST00000307616	T	0.54071	0.59	0.835	-1.67	0.08238	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.17465	0.022	B	0.04013	0.001	T	0.11084	-1.0602	8	0.87932	D	0	.	4.4149	0.11452	0.4476:0.0:0.5524:0.0	rs34097396	141	Q8WZ69	CK040_HUMAN	M	141	ENSP00000302918:T141M	ENSP00000302918:T141M	T	-	2	0	C11orf40	4549987	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	0.055000	0.14229	-0.765000	0.04645	-0.684000	0.03749	ACG	G|0.888;A|0.112	0.112	strong		0.428	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		A	4593411	G	A	4593411	3	1	22	1	0	0	0	0	1	0	0	0	1639	1145	40	1	238	1	C11orf40	11	4593411	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	705	4593411	130413105	5921	11029										
OR52I1	390037	hgsc.bcm.edu	37	chr11	4615869	4615869	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccccgtgcccagcagtCtctacagtctgattggttcc	9	15	2	2	rs78745657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4615869C>G	ENST00000530443.2	+	1	601	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	OR52I1_ENST00000450052.2_Missense_Mutation_p.L225V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAGCAGTCTCTACAGTCT	0.493													C|||	75	0.014976	0.0227	0.0	5008	,	,		22142	0.0367		0.001	False		,,,				2504	0.0072				p.L201V		Atlas-SNP	.											.	OR52I1	29	.	0			c.C601G						PASS	.	C	VAL/LEU	75,4327	65.8+/-103.3	1,73,2127	168	161	163		601	5	1	11	dbSNP_131	163	2,8588	2.2+/-6.3	0,2,4293	no	missense	OR52I1	NM_001005169.1	32	1,75,6420	GG,GC,CC		0.0233,1.7038,0.5927	probably-damaging	201/325	4615869	77,12915	2201	4295	6496	SO:0001583	missense	390037	exon1			AGCAGTCTCTACA	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.601C>G	11.37:g.4615869C>G	ENSP00000436453:p.Leu201Val	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	279	144	0.516129	NM_001005169	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	38	0.0173992673992674	15	0.03048780487804878	0	0.0	21	0.03671328671328671	2	0.002638522427440633	C	13.11	2.140228	0.37825	0.017038	2.33E-4	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.37915	1.17;1.17	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001137	T	0.20820	0.0501	L	0.45581	1.43	0.31746	N	0.635184	D	0.89917	1.0	D	0.91635	0.999	T	0.17198	-1.0377	9	0.30854	T	0.27	-16.639	16.0681	0.80903	0.0:1.0:0.0:0.0	.	201	Q8NGK6	O52I1_HUMAN	V	225;201	ENSP00000409094:L225V;ENSP00000436453:L201V	ENSP00000409094:L225V	L	+	1	0	OR52I1	4572445	0.000000	0.05858	1.000000	0.80357	0.841000	0.47740	-1.429000	0.02437	2.741000	0.93983	0.555000	0.69702	CTC	C|0.983;G|0.017	0.017	strong		0.493	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		G	4615869	C	G	4615869	3	3	22	1	0	0	0	0	1	0	0	0	11120	913	32	4	603	4	OR52I1	11	4615869	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22458	4615869	130390647	5922	11030										
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790471	4790471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggcaattctgaggacaGagtgaataattaagatatat	12	3	1	4	rs1030723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4790471G>A	ENST00000380383.1	-	1	697	c.698C>T	c.(697-699)tCt>tTt	p.S233F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S226F			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	233			S -> F (in dbSNP:rs1030723).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTGAGGACAGAGTGAATAAT	0.453													G|||	837	0.167133	0.4418	0.1052	5008	,	,		23334	0.0		0.1292	False		,,,				2504	0.0511				p.S226F		Atlas-SNP	.											.	OR51F1	60	.	0			c.C677T						PASS	.	G	PHE/SER	1745,2657	520.2+/-370.2	356,1033,812	126	123	124		677	4.3	0.8	11	dbSNP_86	124	1019,7577	217.8+/-256.4	74,871,3353	yes	missense	OR51F1	NM_001004752.1	155	430,1904,4165	AA,AG,GG		11.8544,39.6411,21.2648	probably-damaging	226/313	4790471	2764,10234	2201	4298	6499	SO:0001583	missense	256892	exon1			AGGACAGAGTGAA	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.698C>T	11.37:g.4790471G>A	ENSP00000369744:p.Ser233Phe	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	142	63	0.443662	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		330	0.1510989010989011	217	0.4410569105691057	34	0.09392265193370165	0	0.0	79	0.10422163588390501	G	13.37	2.217842	0.39201	0.396411	0.118544	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00158	8.65;8.65	5.24	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.378221	0.23017	N	0.052898	T	0.00012	0.0000	M	0.92317	3.295	0.34571	P	0.28654900000000005	D	0.89917	1.0	D	0.97110	1.0	T	0.08166	-1.0735	9	0.87932	D	0	.	9.1496	0.36955	0.0805:0.1504:0.7692:0.0	rs1030723;rs52810044;rs57519163;rs1030723	233	A6NGY5	O51F1_HUMAN	F	226;233	ENSP00000345163:S226F;ENSP00000369744:S233F	ENSP00000345163:S226F	S	-	2	0	OR51F1	4747047	0.651000	0.27340	0.821000	0.32701	0.348000	0.29142	3.919000	0.56439	1.428000	0.47296	0.655000	0.94253	TCT	G|0.798;A|0.202	0.202	strong		0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		A	4790471	G	A	4790471	3	1	22	1	0	0	0	0	1	0	0	0	11096	942	33	2	264	2	OR51F1	11	4790471	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	174602	4790471	130216045	5923	11031										
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790868	4790868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcagctatatagactgaTttcacgtgcctcaaaccaga	7	10	2	3	rs75972277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4790868T>C	ENST00000380383.1	-	1	300	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.I94V			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATAGACTGATTTCACGTGCC	0.428													T|||	230	0.0459265	0.1649	0.0159	5008	,	,		22485	0.0		0.001	False		,,,				2504	0.0				p.I94V		Atlas-SNP	.											.	OR51F1	60	.	0			c.A280G						PASS	.	T	VAL/ILE	655,3747	277.2+/-273.6	49,557,1595	78	75	76		280	1.3	0.2	11	dbSNP_132	76	12,8584	7.7+/-29.5	0,12,4286	yes	missense	OR51F1	NM_001004752.1	29	49,569,5881	CC,CT,TT		0.1396,14.8796,5.1316	probably-damaging	94/313	4790868	667,12331	2201	4298	6499	SO:0001583	missense	256892	exon1			GACTGATTTCACG	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.301A>G	11.37:g.4790868T>C	ENSP00000369744:p.Ile101Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	83	33	0.39759	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		96	0.04395604395604396	91	0.18495934959349594	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	t	14.41	2.525656	0.44969	0.148796	0.001396	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00590	6.36;6.36	4.91	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.114787	0.38381	N	0.001718	T	0.00012	0.0000	M	0.87097	2.86	0.24681	N	0.993366	D	0.67145	0.996	D	0.80764	0.994	T	0.45527	-0.9255	10	0.46703	T	0.11	.	8.2938	0.31973	0.0:0.2382:0.0:0.7618	.	101	A6NGY5	O51F1_HUMAN	V	94;101	ENSP00000345163:I94V;ENSP00000369744:I101V	ENSP00000345163:I94V	I	-	1	0	OR51F1	4747444	0.937000	0.31787	0.237000	0.24090	0.676000	0.39594	1.729000	0.38115	0.058000	0.16222	0.473000	0.43528	ATC	T|0.955;C|0.045	0.045	strong		0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		C	4790868	T	C	4790868	3	2	22	1	0	0	0	0	1	0	0	0	11096	1493	52	2	661	2	OR51F1	11	4790868	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	397	4790868	130215648	5924	11032										
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790951	4790951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcagtggctgatagcctgAagaggaaataatacatgggt	13	5	1	3	rs11033801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4790951A>G	ENST00000380383.1	-	1	217	c.218T>C	c.(217-219)tTc>tCc	p.F73S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F66S			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	73			F -> S (in dbSNP:rs11033801).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGATAGCCTGAAGAGGAAATA	0.443													G|||	1080	0.215655	0.4569	0.2017	5008	,	,		21639	0.0		0.2704	False		,,,				2504	0.0654				p.F66S		Atlas-SNP	.											.	OR51F1	60	.	0			c.T197C						PASS	.	G	SER/PHE	1966,2436	617.7+/-393.0	443,1080,678	67	63	65		197	4.8	1	11	dbSNP_120	65	2164,6432	712.0+/-405.9	286,1592,2420	yes	missense	OR51F1	NM_001004752.1	155	729,2672,3098	GG,GA,AA		25.1745,44.6615,31.7741	benign	66/313	4790951	4130,8868	2201	4298	6499	SO:0001583	missense	256892	exon1			AGCCTGAAGAGGA	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.218T>C	11.37:g.4790951A>G	ENSP00000369744:p.Phe73Ser	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		494	0.2261904761904762	225	0.4573170731707317	82	0.2265193370165746	0	0.0	187	0.24670184696569922	G	0.026	-1.367725	0.01225	0.446615	0.251745	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00449	7.37;7.37	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.133054	0.34580	N	0.003857	T	0.00012	0.0000	N	0.00186	-1.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06643	-1.0815	9	0.02654	T	1	.	7.3933	0.26921	0.0863:0.0:0.7488:0.1649	rs11033801;rs52802475;rs58778978;rs11033801	73	A6NGY5	O51F1_HUMAN	S	66;73	ENSP00000345163:F66S;ENSP00000369744:F73S	ENSP00000345163:F66S	F	-	2	0	OR51F1	4747527	0.352000	0.24895	0.965000	0.40720	0.712000	0.41017	0.483000	0.22292	1.271000	0.44313	-0.197000	0.12766	TTC	A|0.702;G|0.298	0.298	strong		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790951	A	G	4790951	3	3	22	1	0	0	0	0	1	0	0	0	11096	246	9	2	744	2	OR51F1	11	4790951	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	83	4790951	130215565	5925	11033										
OR51F1	256892	hgsc.bcm.edu	37	chr11	4791012	4791012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgatgacaaacaggatcaCgctgttcccagagagggcaa	11	9	1	3	rs146706676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4791012C>T	ENST00000380383.1	-	1	156	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V46M			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAGGATCACGCTGTTCCCA	0.478													C|||	4	0.000798722	0.003	0.0	5008	,	,		20537	0.0		0.0	False		,,,				2504	0.0				p.V46M		Atlas-SNP	.											.	OR51F1	60	.	0			c.G136A						PASS	.	C	MET/VAL	15,4387	22.3+/-47.3	0,15,2186	66	63	64		136	1	1	11	dbSNP_134	64	0,8596		0,0,4298	yes	missense	OR51F1	NM_001004752.1	21	0,15,6484	TT,TC,CC		0.0,0.3408,0.1154	benign	46/313	4791012	15,12983	2201	4298	6499	SO:0001583	missense	256892	exon1			GGATCACGCTGTT	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.157G>A	11.37:g.4791012C>T	ENSP00000369744:p.Val53Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	C	0.094	-1.162853	0.01673	0.003408	0.0	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00451	7.35;7.35	4.81	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.193258	0.36234	N	0.002716	T	0.00109	0.0003	N	0.00595	-1.35	0.22762	N	0.998768	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.18710	T	0.47	.	3.1994	0.06645	0.1376:0.0783:0.1435:0.6405	.	53	A6NGY5	O51F1_HUMAN	M	46;53	ENSP00000345163:V46M;ENSP00000369744:V53M	ENSP00000345163:V46M	V	-	1	0	OR51F1	4747588	0.000000	0.05858	0.993000	0.49108	0.775000	0.43874	-1.227000	0.02950	0.008000	0.14787	-0.385000	0.06624	GTG	C|0.999;T|0.001	0.001	strong		0.478	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		T	4791012	C	T	4791012	3	4	22	1	0	0	0	0	1	0	0	0	11096	536	19	1	805	1	OR51F1	11	4791012	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61	4791012	130215504	5926	11034										
OR51F2	119694	hgsc.bcm.edu	37	chr11	4843119	4843119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgataagaaatgttgcCgtcatgttgccagtcatgct	10	7	2	2	rs142530902		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4843119C>T	ENST00000322110.5	+	1	569	c.504C>T	c.(502-504)gcC>gcT	p.A168A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAATGTTGCCGTCATGTTGC	0.443																																					p.A168A		Atlas-SNP	.											.	OR51F2	72	.	0			c.C504T						PASS	.	C		2,4400	6.2+/-15.9	0,2,2199	336	287	303		504	-1.1	1	11	dbSNP_134	303	0,8596		0,0,4298	no	coding-synonymous	OR51F2	NM_001004753.1		0,2,6497	TT,TC,CC		0.0,0.0454,0.0154		168/343	4843119	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	119694	exon1			TGTTGCCGTCATG	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.504C>T	11.37:g.4843119C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	143	83	0.58042	NM_001004753	Q6IFI1	Silent	SNP	ENST00000322110.5	37	CCDS31361.1																																																																																			C|1.000;T|0.000	0.000	weak		0.443	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		T	4843119	C	T	4843119	2	4	22	1	0	0	0	0	0	0	0	1	11097	639	23	1		1	OR51F2	11	4843119	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52107	4843119	130163397	5927	11035										
OR51S1	119692	hgsc.bcm.edu	37	chr11	4869792	4869792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaataagcagggggtccAaacccatggctgaaagaacc	11	9	0	3	rs57238061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4869792A>G	ENST00000322101.2	-	1	722	c.647T>C	c.(646-648)tTg>tCg	p.L216S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGGTCCAAACCCATGGC	0.527													A|||	307	0.0613019	0.2209	0.0202	5008	,	,		18029	0.0		0.001	False		,,,				2504	0.0				p.L216S		Atlas-SNP	.											.	OR51S1	83	.	0			c.T647C						PASS	.	A	SER/LEU	791,3611	318.8+/-295.8	72,647,1482	78	82	80		647	4.1	1	11	dbSNP_129	80	11,8585	8.4+/-32.0	0,11,4287	yes	missense	OR51S1	NM_001004758.1	145	72,658,5769	GG,GA,AA		0.128,17.9691,6.1702	probably-damaging	216/324	4869792	802,12196	2201	4298	6499	SO:0001583	missense	119692	exon1			GGGTCCAAACCCA	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.647T>C	11.37:g.4869792A>G	ENSP00000322754:p.Leu216Ser	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	113	0.051739926739926737	105	0.21341463414634146	8	0.022099447513812154	0	0.0	0	0.0	A	16.28	3.079144	0.55753	0.179691	0.00128	ENSG00000176922	ENST00000322101	T	0.44482	0.92	5.25	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	N	0.002844	T	0.00039	0.0001	L	0.43923	1.385	0.54753	P	1.799999999996249E-5	P	0.39535	0.677	B	0.39419	0.299	T	0.11567	-1.0582	9	0.51188	T	0.08	-6.8936	10.3194	0.43756	0.9202:0.0:0.0798:0.0	rs57238061;rs61746907	216	Q8NGJ8	O51S1_HUMAN	S	216	ENSP00000322754:L216S	ENSP00000322754:L216S	L	-	2	0	OR51S1	4826368	0.007000	0.16637	0.966000	0.40874	0.681000	0.39784	2.118000	0.41949	2.203000	0.70933	0.533000	0.62120	TTG	A|0.944;G|0.056	0.056	strong		0.527	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		G	4869792	A	G	4869792	3	3	22	1	0	0	0	0	1	0	0	0	11105	131	5	2	327	2	OR51S1	11	4869792	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26673	4869792	130136724	5928	11036										
OR51G1	79324	hgsc.bcm.edu	37	chr11	4945196	4945196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggttgcagacggccacgTagcggtcaatggacatggat	16	8	1	1	rs1378739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:4945196T>G	ENST00000321961.2	-	1	441	c.374A>C	c.(373-375)tAc>tCc	p.Y125S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	125			Y -> S (in dbSNP:rs1378739). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACGGCCACGTAGCGGTCAAT	0.507													T|||	3292	0.657348	0.7231	0.6484	5008	,	,		22751	0.7222		0.5686	False		,,,				2504	0.5992				p.Y125S		Atlas-SNP	.											.	OR51G1	74	.	0			c.A374C						PASS	.	T	SER/TYR	3078,1324	695.5+/-405.9	1059,960,182	110	98	102		374	3	1	11	dbSNP_88	102	4985,3611	625.5+/-397.7	1451,2083,764	yes	missense	OR51G1	NM_001005237.1	144	2510,3043,946	GG,GT,TT		42.0079,30.0772,37.9674	probably-damaging	125/322	4945196	8063,4935	2201	4298	6499	SO:0001583	missense	79324	exon1			GCCACGTAGCGGT	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.374A>C	11.37:g.4945196T>G	ENSP00000322546:p.Tyr125Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	51	50	0.980392	NM_001005237	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	1442	0.6602564102564102	372	0.7560975609756098	244	0.6740331491712708	410	0.7167832167832168	416	0.5488126649076517	T	9.340	1.062863	0.19987	0.699228	0.579921	ENSG00000176879	ENST00000321961	T	0.57436	0.4	4.2	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.227317	0.22524	U	0.058922	T	0.00012	0.0000	M	0.86953	2.85	0.30227	P	0.796256	P	0.41748	0.761	B	0.37346	0.247	T	0.38542	-0.9656	9	0.87932	D	0	.	9.0162	0.36170	0.1644:0.0:0.0:0.8356	rs1378739;rs17337943	125	Q8NGK1	O51G1_HUMAN	S	125	ENSP00000322546:Y125S	ENSP00000322546:Y125S	Y	-	2	0	OR51G1	4901772	0.085000	0.21516	0.996000	0.52242	0.061000	0.15899	0.375000	0.20518	1.760000	0.52011	0.455000	0.32223	TAC	T|0.355;G|0.645	0.645	strong		0.507	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		G	4945196	T	G	4945196	3	3	22	1	0	0	0	0	1	0	0	0	11098	1638	57	5	593	5	OR51G1	11	4945196	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75404	4945196	130061320	5929	11037										
OR51L1	119682	hgsc.bcm.edu	37	chr11	5020542	5020542	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcatccacacattcacAttcctggagtcctcagtgtt	5	13	4	0	rs368384016		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5020542A>T	ENST00000321543.1	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACATTCACATTCCTGGAGT	0.502																																					p.T110T		Atlas-SNP	.											.	OR51L1	60	.	0			c.A330T						PASS	.	A		6,4396	11.4+/-27.6	0,6,2195	296	222	247		330	0	1	11		247	0,8596		0,0,4298	no	coding-synonymous	OR51L1	NM_001004755.1		0,6,6493	TT,TA,AA		0.0,0.1363,0.0462		110/316	5020542	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	119682	exon1			ATTCACATTCCTG	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.330A>T	11.37:g.5020542A>T		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	423	203	0.479905	NM_001004755	Q6IFE5	Silent	SNP	ENST00000321543.1	37	CCDS31369.1																																																																																			.	.	weak		0.502	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		T	5020542	A	T	5020542	2	4	22	1	0	0	0	0	0	0	0	1	11102	204	8	5		5	OR51L1	11	5020542	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75346	5020542	129985974	5930	11038										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5067984	5067984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattgatttggccctttctAcaacctctgtgcctcgcatg	7	13	2	1	rs2500016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5067984A>G	ENST00000380370.1	+	1	229	c.229A>G	c.(229-231)Aca>Gca	p.T77A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	77			T -> A (in dbSNP:rs2500016). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1, ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCCTTTCTACAACCTCTGT	0.488													A|||	2442	0.48762	0.5915	0.4971	5008	,	,		19708	0.2619		0.508	False		,,,				2504	0.5521				p.T77A		Atlas-SNP	.											.	OR52J3	77	.	0			c.A229G						PASS	.	A	ALA/THR	2443,1959	621.2+/-393.7	687,1069,445	129	110	117		229	4.2	1	11	dbSNP_100	117	4304,4292	577.8+/-390.6	1067,2170,1061	no	missense	OR52J3	NM_001001916.2	58	1754,3239,1506	GG,GA,AA		49.9302,44.5025,48.092	probably-damaging	77/312	5067984	6747,6251	2201	4298	6499	SO:0001583	missense	119679	exon1			CTTTCTACAACCT	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.229A>G	11.37:g.5067984A>G	ENSP00000369728:p.Thr77Ala	Somatic	265	1	0.00377358		WXS	Illumina HiSeq	Phase_I	291	145	0.498282	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	995	0.4555860805860806	290	0.5894308943089431	170	0.4696132596685083	149	0.26048951048951047	386	0.5092348284960422	A	15.11	2.736934	0.49045	0.554975	0.500698	ENSG00000205495	ENST00000380370	T	0.04603	3.59	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.293409	0.24016	N	0.042331	T	0.00012	0.0000	M	0.74881	2.28	0.80722	P	0.0	P	0.47350	0.894	P	0.49301	0.606	T	0.24693	-1.0153	9	0.87932	D	0	.	12.2358	0.54514	1.0:0.0:0.0:0.0	rs2500016	77	Q8NH60	O52J3_HUMAN	A	77	ENSP00000369728:T77A	ENSP00000369728:T77A	T	+	1	0	OR52J3	5024560	0.001000	0.12720	0.986000	0.45419	0.937000	0.57800	0.843000	0.27640	1.742000	0.51746	0.533000	0.62120	ACA	A|0.493;G|0.507	0.507	strong		0.488	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		G	5067984	A	G	5067984	3	3	22	1	0	0	0	0	1	0	0	0	11122	391	14	2	231	2	OR52J3	11	5067984	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47442	5067984	129938532	5931	11039										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068137	5068137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttgaccgttatgtggccGtctgtgctccactacattac	8	12	1	1	rs2500017	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5068137G>A	ENST00000380370.1	+	1	382	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	128			V -> I (in dbSNP:rs2500017). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1, ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATGTGGCCGTCTGTGCTCC	0.483													A|||	2442	0.48762	0.5915	0.4971	5008	,	,		20351	0.2619		0.508	False		,,,				2504	0.5521				p.V128I		Atlas-SNP	.											.	OR52J3	77	.	0			c.G382A						PASS	.	A	ILE/VAL	2444,1958	553.0+/-378.7	688,1068,445	176	117	137		382	4.2	0.9	11	dbSNP_100	137	4303,4293	576.3+/-390.4	1068,2167,1063	yes	missense	OR52J3	NM_001001916.2	29	1756,3235,1508	AA,AG,GG		49.9418,44.4798,48.092	benign	128/312	5068137	6747,6251	2201	4298	6499	SO:0001583	missense	119679	exon1			GTGGCCGTCTGTG	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.382G>A	11.37:g.5068137G>A	ENSP00000369728:p.Val128Ile	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	269	130	0.483271	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	995	0.4555860805860806	290	0.5894308943089431	170	0.4696132596685083	149	0.26048951048951047	386	0.5092348284960422	A	0.017	-1.494256	0.01009	0.555202	0.500582	ENSG00000205495	ENST00000380370	T	0.26518	1.73	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	N	0.000211	T	0.00012	0.0000	N	0.00038	-2.52	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.46373	-0.9196	9	0.02654	T	1	.	8.6796	0.34201	0.9077:0.0:0.0923:0.0	rs2500017;rs17350722;rs52791516;rs60675916;rs2500017	128	Q8NH60	O52J3_HUMAN	I	128	ENSP00000369728:V128I	ENSP00000369728:V128I	V	+	1	0	OR52J3	5024713	0.985000	0.35326	0.891000	0.34965	0.100000	0.18952	2.872000	0.48467	0.651000	0.30788	-0.254000	0.11334	GTC	G|0.493;A|0.507	0.507	strong		0.483	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		A	5068137	G	A	5068137	3	1	22	1	0	0	0	0	1	0	0	0	11122	1145	40	1	384	1	OR52J3	11	5068137	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153	5068137	129938379	5932	11040										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068177	5068177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaaccatcttgacatcccAagtgttggtgggcattagca	10	11	1	1	rs2500018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5068177A>T	ENST00000380370.1	+	1	422	c.422A>T	c.(421-423)cAa>cTa	p.Q141L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	141			Q -> L (in dbSNP:rs2500018). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1, ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGACATCCCAAGTGTTGGTG	0.493													A|||	2442	0.48762	0.5915	0.4971	5008	,	,		21422	0.2619		0.508	False		,,,				2504	0.5521				p.Q141L		Atlas-SNP	.											OR52J3,NS,carcinoma,-1,1	OR52J3	77	1	0			c.A422T						PASS	.	A	LEU/GLN	2444,1958	621.1+/-393.7	688,1068,445	182	118	139		422	-5.2	0	11	dbSNP_100	139	4304,4292	578.0+/-390.6	1067,2170,1061	yes	missense	OR52J3	NM_001001916.2	113	1755,3238,1506	TT,TA,AA		49.9302,44.4798,48.0843	benign	141/312	5068177	6748,6250	2201	4298	6499	SO:0001583	missense	119679	exon1			CATCCCAAGTGTT	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.422A>T	11.37:g.5068177A>T	ENSP00000369728:p.Gln141Leu	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	299	163	0.545151	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	995	0.4555860805860806	290	0.5894308943089431	170	0.4696132596685083	149	0.26048951048951047	386	0.5092348284960422	A	1.867	-0.461166	0.04508	0.555202	0.500698	ENSG00000205495	ENST00000380370	T	0.11277	2.79	4.19	-5.19	0.02832	GPCR, rhodopsin-like superfamily (1);	1.059250	0.07502	N	0.907470	T	0.00012	0.0000	L	0.33293	1	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	9	0.46703	T	0.11	.	7.2722	0.26262	0.4249:0.2007:0.3744:0.0	rs2500018;rs17259473;rs52831001;rs60936519;rs2500018	141	Q8NH60	O52J3_HUMAN	L	141	ENSP00000369728:Q141L	ENSP00000369728:Q141L	Q	+	2	0	OR52J3	5024753	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-0.989000	0.03485	-2.338000	0.00246	CAA	A|0.494;T|0.506	0.506	strong		0.493	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068177	A	T	5068177	3	4	22	1	0	0	0	0	1	0	0	0	11122	130	5	5	424	5	OR52J3	11	5068177	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40	5068177	129938339	5933	11041										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068661	5068661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaccaaacagattcgagaAcgagtgctctatgtttttac	9	8	1	2	rs2500019|rs386750099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5068661A>G	ENST00000380370.1	+	1	906	c.906A>G	c.(904-906)gaA>gaG	p.E302E		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATTCGAGAACGAGTGCTCT	0.383													G|||	2444	0.488019	0.5923	0.4971	5008	,	,		21199	0.2619		0.508	False		,,,				2504	0.5532				p.E302E		Atlas-SNP	.											.	OR52J3	77	.	0			c.A906G						PASS	.	G		2432,1970		689,1054,458	58	55	56		906	-0.4	0	11	dbSNP_100	56	4226,4370		1065,2096,1137	no	coding-synonymous	OR52J3	NM_001001916.2		1754,3150,1595	GG,GA,AA		49.1624,44.7524,48.7767		302/312	5068661	6658,6340	2201	4298	6499	SO:0001819	synonymous_variant	119679	exon1			TCGAGAACGAGTG	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.906A>G	11.37:g.5068661A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	48	0.551724	NM_001001916	Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																			A|0.493;G|0.507	0.507	strong		0.383	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		G	5068661	A	G	5068661	2	3	22	1	0	0	0	0	0	0	0	1	11122	40	2	2		2	OR52J3	11	5068661	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	484	5068661	129937855	5934	11042										
OR52E2	119678	hgsc.bcm.edu	37	chr11	5080523	5080523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaaggactgctgactccAtaagtgtgaagttgtggata	11	8	0	2	rs144077173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5080523A>G	ENST00000321522.2	-	1	334	c.335T>C	c.(334-336)aTg>aCg	p.M112T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCTGACTCCATAAGTGTGAA	0.468													a|||	3	0.000599042	0.0	0.0	5008	,	,		22727	0.003		0.0	False		,,,				2504	0.0				p.M112T		Atlas-SNP	.											.	OR52E2	63	.	0			c.T335C						PASS	.	G	THR/MET	3,4399	8.1+/-20.4	0,3,2198	75	71	72		335	1.4	0.7	11	dbSNP_134	72	0,8596		0,0,4298	yes	missense	OR52E2	NM_001005164.2	81	0,3,6496	GG,GA,AA		0.0,0.0682,0.0231	benign	112/326	5080523	3,12995	2201	4298	6499	SO:0001583	missense	119678	exon1			GACTCCATAAGTG	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.335T>C	11.37:g.5080523A>G	ENSP00000322088:p.Met112Thr	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_001005164		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	a	2.241	-0.373782	0.05034	6.82E-4	0.0	ENSG00000176787	ENST00000321522	T	0.01613	4.73	3.77	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.185074	0.38111	N	0.001815	T	0.01222	0.0040	L	0.35249	1.045	0.09310	N	1	B	0.23316	0.083	B	0.25291	0.059	T	0.44697	-0.9311	10	0.54805	T	0.06	.	7.9034	0.29748	0.8183:0.0:0.1817:0.0	.	112	Q8NGJ4	O52E2_HUMAN	T	112	ENSP00000322088:M112T	ENSP00000322088:M112T	M	-	2	0	OR52E2	5037099	0.000000	0.05858	0.673000	0.29887	0.113000	0.19764	0.661000	0.25023	0.311000	0.23014	-0.259000	0.10710	ATG	A|0.999;G|0.001	0.001	strong		0.468	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		G	5080523	A	G	5080523	3	3	22	1	0	0	0	0	1	0	0	0	11115	217	8	2	645	2	OR52E2	11	5080523	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11862	5080523	129925993	5935	11043										
OR52A5	390054	hgsc.bcm.edu	37	chr11	5153261	5153261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctaggattgcaaaggcaacAaataggccatatatcttgtt	8	8	1	0	rs2472530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5153261A>G	ENST00000307388.1	-	1	611	c.612T>C	c.(610-612)ttT>ttC	p.F204F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAGGCAACAAATAGGCCAT	0.423													A|||	995	0.198682	0.0144	0.232	5008	,	,		23011	0.3929		0.2028	False		,,,				2504	0.2198				p.F204F		Atlas-SNP	.											.	OR52A5	80	.	0			c.T612C						PASS	.	A		220,4182	131.0+/-167.6	7,206,1988	108	104	105		612	5.1	1	11	dbSNP_100	105	1823,6773	326.6+/-317.4	213,1397,2688	no	coding-synonymous	OR52A5	NM_001005160.2		220,1603,4676	GG,GA,AA		21.2075,4.9977,15.7178		204/317	5153261	2043,10955	2201	4298	6499	SO:0001819	synonymous_variant	390054	exon1			GGCAACAAATAGG	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.612T>C	11.37:g.5153261A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	97	46	0.474227	NM_001005160		Silent	SNP	ENST00000307388.1	37	CCDS31373.1																																																																																			A|0.815;G|0.185	0.185	strong		0.423	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		G	5153261	A	G	5153261	2	3	22	1	0	0	0	0	0	0	0	1	11110	127	5	2		2	OR52A5	11	5153261	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72738	5153261	129853255	5936	11044										
OR51V1	283111	hgsc.bcm.edu	37	chr11	5221132	5221132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacggtgcaccattgtgaGgctaatgatagggatgtaga	13	5	0	3	rs61736992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5221132G>A	ENST00000321255.1	-	1	798	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATTGTGAGGCTAATGATA	0.483													G|||	126	0.0251597	0.0378	0.0086	5008	,	,		19744	0.0		0.0189	False		,,,				2504	0.0521				p.L267F		Atlas-SNP	.											.	OR51V1	77	.	0			c.C799T						PASS	.	G	PHE/LEU	182,4220	116.3+/-154.2	1,180,2020	134	117	123		799	1.4	0	11	dbSNP_129	123	209,8387	89.4+/-151.6	4,201,4093	yes	missense	OR51V1	NM_001004760.2	22	5,381,6113	AA,AG,GG		2.4314,4.1345,3.0082	probably-damaging	267/322	5221132	391,12607	2201	4298	6499	SO:0001583	missense	283111	exon1			TTGTGAGGCTAAT	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.799C>T	11.37:g.5221132G>A	ENSP00000321729:p.Leu267Phe	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	104	58	0.557692	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	32	0.014652014652014652	15	0.03048780487804878	6	0.016574585635359115	0	0.0	11	0.014511873350923483	G	10.05	1.243241	0.22796	0.041345	0.024314	ENSG00000176742	ENST00000321255	T	0.72835	-0.69	5.27	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001163	T	0.56992	0.2023	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63972	-0.6516	10	0.87932	D	0	.	8.363	0.32369	0.3867:0.0:0.6133:0.0	.	267	Q9H2C8	O51V1_HUMAN	F	267	ENSP00000321729:L267F	ENSP00000321729:L267F	L	-	1	0	OR51V1	5177708	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.502000	0.06390	0.103000	0.17682	0.655000	0.94253	CTC	G|0.975;A|0.025	0.025	strong		0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		A	5221132	G	A	5221132	3	1	22	1	0	0	0	0	1	0	0	0	11107	1000	35	2	169	2	OR51V1	11	5221132	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67871	5221132	129785384	5937	11045										
OR51B6	390058	hgsc.bcm.edu	37	chr11	5372863	5372863	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacttcttggcaatggcacTcttctctttctcatcaggaa	6	11	5	0	rs10837882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5372863T>A	ENST00000380219.1	+	1	126	c.126T>A	c.(124-126)acT>acA	p.T42T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	42					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATGGCACTCTTCTCTTTC	0.468													T|||	750	0.14976	0.0658	0.0937	5008	,	,		22274	0.2351		0.1193	False		,,,				2504	0.2464				p.T42T		Atlas-SNP	.											.	OR51B6	53	.	0			c.T126A						PASS	.	T		412,3990	202.1+/-225.0	19,374,1808	175	139	151		126	-5.6	0.1	11	dbSNP_120	151	1090,7504	228.0+/-263.2	80,930,3287	no	coding-synonymous	OR51B6	NM_001004750.1		99,1304,5095	AA,AT,TT		12.6833,9.3594,11.5574		42/313	5372863	1502,11494	2201	4297	6498	SO:0001819	synonymous_variant	390058	exon1			TGGCACTCTTCTC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.126T>A	11.37:g.5372863T>A		Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	306	304	0.993464	NM_001004750		Silent	SNP	ENST00000380219.1	37	CCDS31379.1																																																																																			T|0.871;A|0.129	0.129	strong		0.468	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5372863	T	A	5372863	2	1	22	1	0	0	0	0	0	0	0	1	11092	1538	54	5		5	OR51B6	11	5372863	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	151731	5372863	129633653	5938	11046										
OR51B6	390058	hgsc.bcm.edu	37	chr11	5373114	5373114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtttcattaccatccgcaGccccttaagatatacctcta	4	14	2	1	rs5006888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5373114G>A	ENST00000380219.1	+	1	377	c.377G>A	c.(376-378)aGc>aAc	p.S126N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	126			S -> N (in dbSNP:rs5006888).	TIRS -> AIHN (in Ref. 1; AAG41682). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATCCGCAGCCCCTTAAGA	0.468													A|||	3037	0.60643	0.587	0.5692	5008	,	,		23218	0.5446		0.6054	False		,,,				2504	0.7239				p.S126N		Atlas-SNP	.											.	OR51B6	53	.	0			c.G377A						PASS	.	A	ASN/SER	2560,1842	534.4+/-373.9	757,1046,398	127	116	120		377	2.7	0	11	dbSNP_113	120	5070,3524	511.0+/-377.6	1515,2040,742	yes	missense	OR51B6	NM_001004750.1	46	2272,3086,1140	AA,AG,GG		41.0054,41.8446,41.2896	benign	126/313	5373114	7630,5366	2201	4297	6498	SO:0001583	missense	390058	exon1			TCCGCAGCCCCTT		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.377G>A	11.37:g.5373114G>A	ENSP00000369568:p.Ser126Asn	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	248	246	0.991935	NM_001004750		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	1268	0.5805860805860806	288	0.5853658536585366	218	0.6022099447513812	315	0.5506993006993007	447	0.5897097625329816	A	0	-2.607379	0.00121	0.581554	0.589946	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00532	6.75	5.01	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.101582	0.42964	N	0.000623	T	0.00012	0.0000	N	0.00217	-1.83	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.13980	-1.0489	9	0.02654	T	1	.	4.9735	0.14129	0.5439:0.2965:0.1596:0.0	rs5006888;rs59241671	126	Q9H340	O51B6_HUMAN	N	125;126	ENSP00000369568:S126N	ENSP00000369568:S126N	S	+	2	0	OR51B6	5329690	0.008000	0.16893	0.040000	0.18447	0.030000	0.12068	2.394000	0.44450	0.070000	0.16634	-0.556000	0.04195	AGC	G|0.408;A|0.592	0.592	strong		0.468	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373114	G	A	5373114	3	1	22	1	0	0	0	0	1	0	0	0	11092	971	34	2	379	2	OR51B6	11	5373114	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	251	5373114	129633402	5939	11047										
OR51B6	390058	hgsc.bcm.edu	37	chr11	5373646	5373646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcagagtggcatacttcgTttattctctctgcctcactc	6	12	4	1	rs5024041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5373646T>C	ENST00000380219.1	+	1	909	c.909T>C	c.(907-909)cgT>cgC	p.R303R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	303					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATACTTCGTTTATTCTCTC	0.413													C|||	3023	0.603634	0.5764	0.5692	5008	,	,		20475	0.5466		0.6054	False		,,,				2504	0.7219				p.R303R		Atlas-SNP	.											OR51B6,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	OR51B6	53	1	0			c.T909C						scavenged	.	C		2551,1849	483.7+/-359.8	736,1079,385	87	88	88		909	-1.1	0	11	dbSNP_113	88	5122,3468	490.7+/-372.9	1520,2082,693	no	coding-synonymous	OR51B6	NM_001004750.1		2256,3161,1078	CC,CT,TT		40.3725,42.0227,40.9315		303/313	5373646	7673,5317	2200	4295	6495	SO:0001819	synonymous_variant	390058	exon1			ACTTCGTTTATTC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.909T>C	11.37:g.5373646T>C		Somatic	59	1	0.0169492		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001004750		Silent	SNP	ENST00000380219.1	37	CCDS31379.1																																																																																			T|0.407;C|0.593	0.593	strong		0.413	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		C	5373646	T	C	5373646	2	2	22	1	0	0	0	0	0	0	0	1	11092	1712	60	2		2	OR51B6	11	5373646	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	532	5373646	129632870	5940	11048										
OR51M1	390059	hgsc.bcm.edu	37	chr11	5411398	5411398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagacatgcaccgctcctcTctgtgctgtgctagtattct	8	13	3	1	rs2736531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5411398T>G	ENST00000328611.3	+	1	792	c.770T>G	c.(769-771)cTc>cGc	p.L257R	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	257			L -> R (in dbSNP:rs2736531). {ECO:0000269|PubMed:11121057}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCGCTCCTCTCTGTGCTGTG	0.562													T|||	1805	0.360423	0.3419	0.3228	5008	,	,		20493	0.3145		0.3767	False		,,,				2504	0.4427				p.L257R		Atlas-SNP	.											.	OR51M1	60	.	0			c.T770G						PASS	.	T	ARG/LEU	1355,2769		217,921,924	99	92	94		770	5.2	1	11	dbSNP_100	94	3136,5260		601,1934,1663	yes	missense	OR51M1	NM_001004756.2	102	818,2855,2587	GG,GT,TT		37.3511,32.8565,35.8706	benign	257/327	5411398	4491,8029	2062	4198	6260	SO:0001583	missense	390059	exon1			CTCCTCTCTGTGC	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.770T>G	11.37:g.5411398T>G	ENSP00000333196:p.Leu257Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_001004756	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	721	0.3301282051282051	157	0.31910569105691056	127	0.35082872928176795	174	0.3041958041958042	263	0.3469656992084433	T	18.57	3.653476	0.67472	0.328565	0.373511	ENSG00000184698	ENST00000328611	T	0.51325	0.71	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.288076	0.18688	U	0.133956	T	0.00012	0.0000	M	0.68952	2.095	0.27897	P	0.939105	P	0.49307	0.922	P	0.59948	0.866	T	0.21314	-1.0249	9	0.87932	D	0	.	14.0973	0.65032	0.0:0.0:0.0:1.0	rs2736531;rs52814371;rs2736531	246	Q9H341	O51M1_HUMAN	R	257	ENSP00000333196:L257R	ENSP00000333196:L257R	L	+	2	0	OR51M1	5367974	0.569000	0.26643	1.000000	0.80357	0.790000	0.44656	4.461000	0.60115	2.207000	0.71202	0.533000	0.62120	CTC	T|0.663;G|0.337	0.337	strong		0.562	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		G	5411398	T	G	5411398	3	3	22	1	0	0	0	0	1	0	0	0	11103	1551	54	5	772	5	OR51M1	11	5411398	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37752	5411398	129595118	5941	11049										
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443442	5443442	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcagtcatgtcccaggtGactaacaccacacaagaagg	8	12	3	2	rs2736590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443442G>C	ENST00000300778.4	+	1	102	c.12G>C	c.(10-12)gtG>gtC	p.V4V	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCCAGGTGACTAACACCA	0.453													G|||	2382	0.475639	0.3623	0.4006	5008	,	,		22376	0.7024		0.3986	False		,,,				2504	0.5276				p.V4V		Atlas-SNP	.											.	OR51Q1	79	.	0			c.G12C						PASS	.	G		1585,2817	495.5+/-363.3	287,1011,903	199	150	167		12	-1	0	11	dbSNP_100	167	3379,5215	500.2+/-375.2	680,2019,1598	no	coding-synonymous	OR51Q1	NM_001004757.2		967,3030,2501	CC,CG,GG		39.3181,36.0064,38.1964		4/318	5443442	4964,8032	2201	4297	6498	SO:0001819	synonymous_variant	390061	exon1			CCAGGTGACTAAC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.12G>C	11.37:g.5443442G>C		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	209	208	0.995215	NM_001004757	B2RNN1	Silent	SNP	ENST00000300778.4	37	CCDS31381.1																																																																																			G|0.587;C|0.413	0.413	strong		0.453	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		C	5443442	G	C	5443442	2	2	22	1	0	0	0	0	0	0	0	1	11104	1277	45	4		4	OR51Q1	11	5443442	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32044	5443442	129563074	5942	11050			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443700	5443700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagcttctctggttcaaCgttcgtagaatcagctctga	9	10	4	2	rs2736588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443700C>T	ENST00000300778.4	+	1	360	c.270C>T	c.(268-270)aaC>aaT	p.N90N	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGTTCAACGTTCGTAGAA	0.517													C|||	2272	0.453674	0.2799	0.3991	5008	,	,		23503	0.7024		0.3986	False		,,,				2504	0.5276				p.N90N		Atlas-SNP	.											.	OR51Q1	79	.	0			c.C270T						PASS	.	C		1332,3070	447.3+/-348.3	203,926,1072	158	141	147		270	-2.3	0	11	dbSNP_100	147	3373,5221	499.6+/-375.0	676,2021,1600	no	coding-synonymous	OR51Q1	NM_001004757.2		879,2947,2672	TT,TC,CC		39.2483,30.259,36.2034		90/318	5443700	4705,8291	2201	4297	6498	SO:0001819	synonymous_variant	390061	exon1			GTTCAACGTTCGT	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.270C>T	11.37:g.5443700C>T		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	198	198	1	NM_001004757	B2RNN1	Silent	SNP	ENST00000300778.4	37	CCDS31381.1																																																																																			C|0.602;T|0.398	0.398	strong		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5443700	C	T	5443700	2	4	22	1	0	0	0	0	0	0	0	1	11104	535	19	1		1	OR51Q1	11	5443700	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	258	5443700	129562816	5943	11051			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443739	5443739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcctgttttgctcagttTttcttccttcatggattctc	8	10	4	0	rs2736587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443739T>C	ENST00000300778.4	+	1	399	c.309T>C	c.(307-309)ttT>ttC	p.F103F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCTCAGTTTTTCTTCCTTC	0.517													C|||	2272	0.453674	0.2799	0.3991	5008	,	,		22512	0.7024		0.3986	False		,,,				2504	0.5276				p.F103F		Atlas-SNP	.											.	OR51Q1	79	.	0			c.T309C						PASS	.	C		1332,3070	694.1+/-405.8	203,926,1072	157	138	144		309	-10	0	11	dbSNP_100	144	3373,5221	641.9+/-399.7	676,2021,1600	no	coding-synonymous	OR51Q1	NM_001004757.2		879,2947,2672	CC,CT,TT		39.2483,30.259,36.2034		103/318	5443739	4705,8291	2201	4297	6498	SO:0001819	synonymous_variant	390061	exon1			TCAGTTTTTCTTC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.309T>C	11.37:g.5443739T>C		Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	197	197	1	NM_001004757	B2RNN1	Silent	SNP	ENST00000300778.4	37	CCDS31381.1																																																																																			T|0.601;C|0.399	0.399	strong		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		C	5443739	T	C	5443739	2	2	22	1	0	0	0	0	0	0	0	1	11104	1838	64	2		2	OR51Q1	11	5443739	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39	5443739	129562777	5944	11052			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443867	5443867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgaagtcattggtagaaCtgggttagccatcatttgct	10	7	2	2	rs10838092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443867C>T	ENST00000300778.4	+	1	527	c.437C>T	c.(436-438)aCt>aTt	p.T146I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	146			T -> I (in dbSNP:rs10838092). {ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGTAGAACTGGGTTAGCC	0.527													T|||	2272	0.453674	0.2799	0.3991	5008	,	,		21966	0.7024		0.3986	False		,,,				2504	0.5276				p.T146I		Atlas-SNP	.											.	OR51Q1	79	.	0			c.C437T						PASS	.	T	ILE/THR	1328,3074	693.8+/-405.7	202,924,1075	269	229	242		437	5	0.1	11	dbSNP_120	242	3372,5222	641.9+/-399.8	675,2022,1600	yes	missense	OR51Q1	NM_001004757.2	89	877,2946,2675	TT,TC,CC		39.2367,30.1681,36.165	benign	146/318	5443867	4700,8296	2201	4297	6498	SO:0001583	missense	390061	exon1			GTAGAACTGGGTT	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.437C>T	11.37:g.5443867C>T	ENSP00000300778:p.Thr146Ile	Somatic	275	2	0.00727273		WXS	Illumina HiSeq	Phase_I	226	224	0.99115	NM_001004757	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	966	0.4423076923076923	139	0.28252032520325204	148	0.4088397790055249	395	0.6905594405594405	284	0.37467018469656993	T	1.308	-0.603044	0.03744	0.301681	0.392367	ENSG00000167360	ENST00000300778	T	0.34275	1.37	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.101808	0.42420	N	0.000719	T	0.00012	0.0000	N	0.00042	-2.475	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	9	0.02654	T	1	.	9.9808	0.41813	0.0:0.0807:0.0:0.9193	rs10838092;rs58812600;rs10838092	146	Q8NH59	O51Q1_HUMAN	I	146	ENSP00000300778:T146I	ENSP00000300778:T146I	T	+	2	0	OR51Q1	5400443	0.000000	0.05858	0.067000	0.19924	0.667000	0.39255	0.024000	0.13555	0.960000	0.38005	-1.531000	0.00922	ACT	C|0.602;T|0.398	0.398	strong		0.527	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5443867	C	T	5443867	3	4	22	1	0	0	0	0	1	0	0	0	11104	565	20	2	439	2	OR51Q1	11	5443867	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	128	5443867	129562649	5945	11053			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443887	5443887	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggttagccatcatttgcTgctgtgttctggcggttctt					rs10838093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443887T>C	ENST00000300778.4	+	1	547	c.457T>C	c.(457-459)Tgc>Cgc	p.C153R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	153			C -> R (in dbSNP:rs10838093).	CCV -> RCI (in Ref. 3; BAC05778). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCATTTGCTGCTGTGTTCT	0.512													C|||	2272	0.453674	0.2799	0.3991	5008	,	,		21029	0.7024		0.3986	False		,,,				2504	0.5276				p.C153R		Atlas-SNP	.											OR51Q1,colon,carcinoma,-1,1	OR51Q1	79	1	0			c.T457C						PASS	.	C	ARG/CYS	1316,3086	694.4+/-405.8	202,912,1087	261	224	236		457	3.1	1	11	dbSNP_120	236	3370,5224	641.7+/-399.7	675,2020,1602	yes	missense	OR51Q1	NM_001004757.2	180	877,2932,2689	CC,CT,TT		39.2134,29.8955,36.0572	benign	153/318	5443887	4686,8310	2201	4297	6498	SO:0001583	missense	390061	exon1			ATTTGCTGCTGTG	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.457T>C	11.37:g.5443887T>C	ENSP00000300778:p.Cys153Arg	Somatic	298	1	0.0033557		WXS	Illumina HiSeq	Phase_I	226	225	0.995575	NM_001004757	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	966	0.4423076923076923	139	0.28252032520325204	148	0.4088397790055249	395	0.6905594405594405	284	0.37467018469656993	C	0.004	-2.346301	0.00219	0.298955	0.392134	ENSG00000167360	ENST00000300778	T	0.36520	1.25	5.0	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.102173	0.44097	N	0.000496	T	0.00012	0.0000	N	0.00008	-3.13	0.52099	P	5.900000000003125E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.44390	-0.9331	9	0.02654	T	1	.	6.8803	0.24168	0.1413:0.7052:0.0:0.1535	rs10838093;rs52801150;rs57444579;rs10838093	153	Q8NH59	O51Q1_HUMAN	R	153	ENSP00000300778:C153R	ENSP00000300778:C153R	C	+	1	0	OR51Q1	5400463	0.000000	0.05858	0.991000	0.47740	0.181000	0.23173	-1.070000	0.03440	0.308000	0.22923	-1.239000	0.01543	TGC	C|0.398;N|0.001	0.398	strong		0.512	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		C	5443887	T	C	5443887	3	2	22	1	0	0	0	0	1	0	0	0	11104	1580	55	3	459	3	OR51Q1	11	5443887	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20	5443887	129562629	5946	11054	224	2	19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5443893	5443893	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccatcatttgctgctgtGttctggcggttcttccctcc					rs10838094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5443893G>A	ENST00000300778.4	+	1	553	c.463G>A	c.(463-465)Gtt>Att	p.V155I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	155			V -> I (in dbSNP:rs10838094).	CCV -> RCI (in Ref. 3; BAC05778). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCTGCTGTGTTCTGGCGGT	0.522													G|||	2272	0.453674	0.2799	0.3991	5008	,	,		20719	0.7024		0.3986	False		,,,				2504	0.5276				p.V155I		Atlas-SNP	.											.	OR51Q1	79	.	0			c.G463A						PASS	.	G	ILE/VAL	1319,3083	444.3+/-347.3	202,915,1084	256	221	233		463	2	0.9	11	dbSNP_120	233	3371,5223	499.2+/-374.9	675,2021,1601	yes	missense	OR51Q1	NM_001004757.2	29	877,2936,2685	AA,AG,GG		39.225,29.9637,36.088	benign	155/318	5443893	4690,8306	2201	4297	6498	SO:0001583	missense	390061	exon1			TGCTGTGTTCTGG	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.463G>A	11.37:g.5443893G>A	ENSP00000300778:p.Val155Ile	Somatic	297	2	0.00673401		WXS	Illumina HiSeq	Phase_I	236	233	0.987288	NM_001004757	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	966	0.4423076923076923	139	0.28252032520325204	148	0.4088397790055249	395	0.6905594405594405	284	0.37467018469656993	G	1.521	-0.547012	0.04024	0.299637	0.39225	ENSG00000167360	ENST00000300778	T	0.36699	1.24	5.0	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.540328	0.16655	N	0.205041	T	0.00012	0.0000	N	0.13098	0.295	0.80722	P	0.0	B	0.19817	0.039	B	0.22386	0.039	T	0.32929	-0.9888	9	0.22109	T	0.4	.	6.2064	0.20606	0.1572:0.0:0.6211:0.2218	rs10838094;rs58915254;rs10838094	155	Q8NH59	O51Q1_HUMAN	I	155	ENSP00000300778:V155I	ENSP00000300778:V155I	V	+	1	0	OR51Q1	5400469	0.000000	0.05858	0.938000	0.37757	0.060000	0.15804	-1.229000	0.02945	0.734000	0.32515	-0.579000	0.04138	GTT	G|0.611;A|0.389	0.389	strong		0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		A	5443893	G	A	5443893	3	1	22	1	0	0	0	0	1	0	0	0	11104	1377	48	2	465	2	OR51Q1	11	5443893	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	5443893	129562623	5947	11055	224	2	19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5444061	5444061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccttgctcattattatcGtggatcctctgctcattgtg	8	10	3	0	rs2736586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5444061G>A	ENST00000300778.4	+	1	721	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	211			V -> M (in dbSNP:rs2736586).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTATTATCGTGGATCCTCT	0.498													A|||	2272	0.453674	0.2799	0.3991	5008	,	,		22644	0.7024		0.3986	False		,,,				2504	0.5276				p.V211M		Atlas-SNP	.											.	OR51Q1	79	.	0			c.G631A						PASS	.	A	MET/VAL	1332,3070	694.1+/-405.8	203,926,1072	176	150	159		631	-6.4	0	11	dbSNP_100	159	3373,5221	641.9+/-399.7	676,2021,1600	yes	missense	OR51Q1	NM_001004757.2	21	879,2947,2672	AA,AG,GG		39.2483,30.259,36.2034	benign	211/318	5444061	4705,8291	2201	4297	6498	SO:0001583	missense	390061	exon1			ATTATCGTGGATC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.631G>A	11.37:g.5444061G>A	ENSP00000300778:p.Val211Met	Somatic	276	2	0.00724638		WXS	Illumina HiSeq	Phase_I	223	220	0.986547	NM_001004757	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	966	0.4423076923076923	139	0.28252032520325204	148	0.4088397790055249	395	0.6905594405594405	284	0.37467018469656993	A	1.024	-0.684014	0.03353	0.30259	0.392483	ENSG00000167360	ENST00000300778	T	0.40225	1.04	5.0	-6.36	0.01969	GPCR, rhodopsin-like superfamily (1);	0.797893	0.10688	N	0.645565	T	0.00012	0.0000	N	0.16066	0.365	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.41893	-0.9483	9	0.34782	T	0.22	.	2.3076	0.04178	0.162:0.4157:0.2302:0.1921	rs2736586;rs17359689;rs56459839;rs60685018;rs2736586	211	Q8NH59	O51Q1_HUMAN	M	211	ENSP00000300778:V211M	ENSP00000300778:V211M	V	+	1	0	OR51Q1	5400637	0.000000	0.05858	0.034000	0.17996	0.033000	0.12548	-3.921000	0.00334	-1.154000	0.02825	-1.540000	0.00911	GTG	G|0.599;A|0.401	0.401	strong		0.498	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		A	5444061	G	A	5444061	3	1	22	1	0	0	0	0	1	0	0	0	11104	1145	40	1	633	1	OR51Q1	11	5444061	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	5444061	129562455	5948	11056			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5444136	5444136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacagccacctgggctgagCgactccgtgccctcaataac	10	16	1	1	rs2647574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5444136C>T	ENST00000300778.4	+	1	796	c.706C>T	c.(706-708)Cga>Tga	p.R236*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCTGAGCGACTCCGTGC	0.483													C|||	2273	0.453874	0.2799	0.4006	5008	,	,		20965	0.7024		0.3986	False		,,,				2504	0.5276				p.R236X		Atlas-SNP	.											.	OR51Q1	79	.	0			c.C706T						PASS	.	C	stop/ARG	1332,3070	447.3+/-348.3	203,926,1072	135	114	121		706	-10	0	11	dbSNP_100	121	3372,5222	499.5+/-375.0	676,2020,1601	yes	stop-gained	OR51Q1	NM_001004757.2		879,2946,2673	TT,TC,CC		39.2367,30.259,36.1958		236/318	5444136	4704,8292	2201	4297	6498	SO:0001587	stop_gained	390061	exon1			GCTGAGCGACTCC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.706C>T	11.37:g.5444136C>T	ENSP00000300778:p.Arg236*	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	137	136	0.992701	NM_001004757	B2RNN1	Nonsense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	966	0.4423076923076923	139	0.28252032520325204	148	0.4088397790055249	395	0.6905594405594405	284	0.37467018469656993	C	9.017	0.983956	0.18889	0.30259	0.392367	ENSG00000167360	ENST00000300778	.	.	.	5.0	-9.99	0.00435	.	0.244803	0.27388	N	0.019593	.	.	.	.	.	.	0.09310	P	0.99999999896276	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	26.1186	0.99996	0.1626:0.8374:0.0:0.0	rs2647574;rs52806938;rs58830716;rs2647574	.	.	.	X	236	.	ENSP00000300778:R236X	R	+	1	2	OR51Q1	5400712	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-6.681000	0.00057	-1.753000	0.01323	-1.378000	0.01179	CGA	C|0.603;T|0.397	0.397	strong		0.483	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5444136	C	T	5444136	4	4	22	1	0	0	0	0	0	1	0	0	11104	760	27	1	708	1	OR51Q1	11	5444136	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75	5444136	129562380	5949	11057			19	48	4425497	8	7	695	N	T_G_C	2.544458e-07
OR51I2	390064	hgsc.bcm.edu	37	chr11	5474894	5474894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagcctccatgagcccaTgtactacttcctgtccatgt	7	16	0	1	rs74049540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5474894T>C	ENST00000341449.2	+	1	257	c.176T>C	c.(175-177)aTg>aCg	p.M59T	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	59					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGAGCCCATGTACTACTTC	0.572													T|||	291	0.058107	0.2118	0.0144	5008	,	,		21590	0.0		0.001	False		,,,				2504	0.0				p.M59T		Atlas-SNP	.											.	OR51I2	76	.	0			c.T176C						PASS	.	T	THR/MET	709,3693	295.6+/-283.7	60,589,1552	109	98	102		176	5.6	1	11	dbSNP_130	102	9,8585	5.0+/-18.6	0,9,4288	yes	missense	OR51I2	NM_001004754.2	81	60,598,5840	CC,CT,TT		0.1047,16.1063,5.5248	possibly-damaging	59/313	5474894	718,12278	2201	4297	6498	SO:0001583	missense	390064	exon1			AGCCCATGTACTA	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.176T>C	11.37:g.5474894T>C	ENSP00000341987:p.Met59Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	135	64	0.474074	NM_001004754	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	128	0.05860805860805861	123	0.25	5	0.013812154696132596	0	0.0	0	0.0	T	13.85	2.359159	0.41801	0.161063	0.001047	ENSG00000187918	ENST00000341449	T	0.09817	2.94	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.94771	3.58	0.25314	P	0.9891777	D	0.55800	0.973	P	0.61201	0.885	T	0.04621	-1.0938	9	0.72032	D	0.01	.	14.7065	0.69194	0.0:0.0:0.0:1.0	.	59	Q9H344	O51I2_HUMAN	T	59	ENSP00000341987:M59T	ENSP00000341987:M59T	M	+	2	0	OR51I2	5431470	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	4.672000	0.61597	2.340000	0.79590	0.528000	0.53228	ATG	T|0.937;C|0.063	0.063	strong		0.572	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		C	5474894	T	C	5474894	3	2	22	1	0	0	0	0	1	0	0	0	11101	1464	51	2	178	2	OR51I2	11	5474894	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30758	5474894	129531622	5950	11058										
OR52D1	390066	hgsc.bcm.edu	37	chr11	5510498	5510499	+	Frame_Shift_Ins	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgagcatatgggcattgINScccgactggcctgtgccaac					rs571241475|rs386750177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5510498_5510499insC	ENST00000322641.5	+	1	584_585	c.562_563insC	c.(562-564)gccfs	p.A188fs	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	188					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGGCATTGCCCGACTGGCC	0.51													CCC|CCC|CCCC|insertion	9	0.00179712	0.0053	0.0029	5008	,	,		22033	0.0		0.0	False		,,,				2504	0.0				p.A188fs		Atlas-Indel	.											.	OR52D1	66	.	0			c.562_563insC						PASS	.																																			SO:0001589	frameshift_variant	390066	exon1			.	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.565dupC	11.37:g.5510501_5510501dupC	ENSP00000326232:p.Ala188fs	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	134	54	0.402985	NM_001005163	B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	CCDS31384.1																																																																																			.	.	none		0.51	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		C	5510499	-	C	5510498	7	5	22	1	0	1	1	0	0	0	0	0	11114	1319	46	0	564	0	OR52D1	11	5510498	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	35604	5510498	129496018	5951	11059										
OR52D1	390066	hgsc.bcm.edu	37	chr11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgtcaatattgtctatgINSggctaactgtggctctgctg					rs146317894|rs576495879|rs190320444|rs36066208|rs377247106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49														471	0.0940495	0.0212	0.1715	5008	,	,		23752	0.0754		0.1779	False		,,,				2504	0.0706				p.G202fs		Pindel,Atlas-Indel	.											.	OR52D1	66	.	0			c.604_605insGGCT						PASS	.			221,4041		4,213,1914						5.5	1		dbSNP_130	269	1217,7035		95,1027,3004	no	frameshift	OR52D1	NM_001005163.2		99,1240,4918	A1A1,A1R,RR		14.7479,5.1854,11.4911				1438,11076				SO:0001589	frameshift_variant	390066	exon1			.	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.605_608dupGGCT	11.37:g.5510541_5510544dupGGCT	ENSP00000326232:p.Leu203fs	Somatic	135	.	.		WXS	Illumina HiSeq	Phase_I	134	21	0.157	NM_001005163	B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	CCDS31384.1																																																																																			.	.	strong		0.49	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		GGCT	5510541	-	GGCT	5510540	7	5	22	1	0	1	1	0	0	0	0	0	11114	1348	47	0	606	0	OR52D1	11	5510540	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	42	5510540	129495976	5952	11060										
OR52H1	390067	hgsc.bcm.edu	37	chr11	5565906	5565906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgtagagattggcaaacAtgatgtggaaggtgcgagag	15	4	0	3	rs7934354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5565906A>G	ENST00000322653.4	-	1	873	c.848T>C	c.(847-849)aTg>aCg	p.M283T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	283			M -> T (in dbSNP:rs7934354).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGCAAACATGATGTGGAA	0.448													A|||	855	0.170727	0.1619	0.1124	5008	,	,		22980	0.3671		0.0219	False		,,,				2504	0.1748				p.M283T		Atlas-SNP	.											.	OR52H1	46	.	0			c.T848C						PASS	.	A	THR/MET	611,3791	270.4+/-269.6	44,523,1634	212	200	204		848	5.2	1	11	dbSNP_116	204	171,8423	78.9+/-141.6	1,169,4127	yes	missense	OR52H1	NM_001005289.1	81	45,692,5761	GG,GA,AA		1.9898,13.8801,6.0172	benign	283/321	5565906	782,12214	2201	4297	6498	SO:0001583	missense	390067	exon1			GCAAACATGATGT	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.848T>C	11.37:g.5565906A>G	ENSP00000326259:p.Met283Thr	Somatic	336	1	0.00297619		WXS	Illumina HiSeq	Phase_I	287	147	0.512195	NM_001005289	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	CCDS31386.1	340	0.15567765567765568	85	0.17276422764227642	28	0.07734806629834254	208	0.36363636363636365	19	0.025065963060686015	A	13.74	2.326455	0.41197	0.138801	0.019898	ENSG00000181616	ENST00000322653	T	0.00137	8.68	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.337248	0.29145	N	0.013005	T	0.00012	0.0000	N	0.21583	0.68	0.37226	P	0.09451699999999996	P	0.34699	0.464	B	0.36092	0.217	T	0.48502	-0.9030	9	0.87932	D	0	.	13.9278	0.63972	1.0:0.0:0.0:0.0	rs7934354;rs56428950;rs58313900;rs7934354	283	Q8NGJ2	O52H1_HUMAN	T	283	ENSP00000326259:M283T	ENSP00000326259:M283T	M	-	2	0	OR52H1	5522482	0.009000	0.17119	1.000000	0.80357	0.965000	0.64279	2.635000	0.46537	1.968000	0.57251	0.528000	0.53228	ATG	A|0.887;G|0.113	0.113	strong		0.448	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		G	5565906	A	G	5565906	3	3	22	1	0	0	0	0	1	0	0	0	11119	217	8	2	117	2	OR52H1	11	5565906	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55366	5565906	129440610	5953	11061										
OR52H1	390067	hgsc.bcm.edu	37	chr11	5566460	5566460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctgggaatgtgatttcGcgagcccctagccaaaagat	10	11	0	2	rs115541630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5566460G>A	ENST00000322653.4	-	1	319	c.294C>T	c.(292-294)cgC>cgT	p.R98R	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGATTTCGCGAGCCCCTA	0.468													G|||	61	0.0121805	0.0439	0.0043	5008	,	,		22055	0.0		0.0	False		,,,				2504	0.0				p.R98R		Atlas-SNP	.											OR52H1,NS,carcinoma,0,1	OR52H1	46	1	0			c.C294T						PASS	.	G		242,4160	142.7+/-177.9	6,230,1965	73	70	71		294	-9.5	0	11	dbSNP_132	71	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	OR52H1	NM_001005289.1		6,231,6261	AA,AG,GG		0.0116,5.4975,1.8698		98/321	5566460	243,12753	2201	4297	6498	SO:0001819	synonymous_variant	390067	exon1			GATTTCGCGAGCC	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.294C>T	11.37:g.5566460G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	117	58	0.495726	NM_001005289	B9EH26|Q6IF79	Silent	SNP	ENST00000322653.4	37	CCDS31386.1																																																																																			G|0.983;A|0.017	0.017	strong		0.468	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		A	5566460	G	A	5566460	2	1	22	1	0	0	0	0	0	0	0	1	11119	1074	38	1		1	OR52H1	11	5566460	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	554	5566460	129440056	5954	11062										
OR52B6	340980	hgsc.bcm.edu	37	chr11	5602275	5602275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttctgcatcatgtacatcActgccctggaaggcaatggc	9	13	3	0	rs1077126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5602275A>G	ENST00000345043.2	+	1	169	c.169A>G	c.(169-171)Act>Gct	p.T57A	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	57			T -> A (in dbSNP:rs1077126).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTACATCACTGCCCTGGA	0.517													G|||	2866	0.572284	0.6362	0.5692	5008	,	,		22571	0.7669		0.331	False		,,,				2504	0.5358				p.T57A		Atlas-SNP	.											.	OR52B6	37	.	0			c.A169G						PASS	.	G	ALA/THR	2410,1890		676,1058,416	137	134	135		169	3.2	0	11	dbSNP_86	135	2665,5879		430,1805,2037	yes	missense	OR52B6	NM_001005162.2	58	1106,2863,2453	GG,GA,AA		31.1915,43.9535,39.5126	benign	57/336	5602275	5075,7769	2150	4272	6422	SO:0001583	missense	340980	exon1			TACATCACTGCCC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.169A>G	11.37:g.5602275A>G	ENSP00000341581:p.Thr57Ala	Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	237	237	1	NM_001005162	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	1194	0.5467032967032966	309	0.6280487804878049	191	0.5276243093922652	437	0.763986013986014	257	0.3390501319261214	G	0.219	-1.029841	0.02045	0.560465	0.311915	ENSG00000187747	ENST00000345043	T	0.00424	7.45	5.15	3.24	0.37175	.	0.000000	0.39146	N	0.001448	T	0.00012	0.0000	N	0.16567	0.415	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.04065	-1.0980	9	0.28530	T	0.3	.	9.2843	0.37746	0.2456:0.0:0.7544:0.0	rs1077126;rs16933198;rs17341305;rs52803016;rs58461358;rs1077126	57	Q8NGF0	O52B6_HUMAN	A	57	ENSP00000341581:T57A	ENSP00000341581:T57A	T	+	1	0	OR52B6	5558851	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.981000	0.03766	0.774000	0.33427	-0.748000	0.03510	ACT	A|0.482;G|0.518	0.518	strong		0.517	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		G	5602275	A	G	5602275	3	3	22	1	0	0	0	0	1	0	0	0	11113	159	6	2	171	2	OR52B6	11	5602275	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35815	5602275	129404241	5955	11063										
TRIM6	117854	hgsc.bcm.edu	37	chr11	5625784	5625784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagtttcaggagtctctAaagaagctgaagaacgagga	13	5	2	4	rs3751005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5625784A>G	ENST00000278302.5	+	3	584	c.444A>G	c.(442-444)ctA>ctG	p.L148L	TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000380107.1_Silent_p.L122L|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Silent_p.L176L|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L176L	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	148					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAGTCTCTAAAGAAGCTGA	0.438													A|||	431	0.0860623	0.0598	0.0836	5008	,	,		20410	0.1756		0.0109	False		,,,				2504	0.1084				p.L176L		Atlas-SNP	.											.	TRIM6-TRIM34	68	.	0			c.A528G						PASS	.	A	,,,,	306,4096	165.8+/-197.2	9,288,1904	127	131	130		528,528,,,444	2.6	1	11	dbSNP_107	130	124,8470	64.9+/-127.2	3,118,4176	no	coding-synonymous,coding-synonymous,utr-5,intron,coding-synonymous	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	,,,,	12,406,6080	GG,GA,AA		1.4429,6.9514,3.3087	,,,,	176/517,176/843,,,148/489	5625784	430,12566	2201	4297	6498	SO:0001819	synonymous_variant	445372	exon3			GTCTCTAAAGAAG	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.444A>G	11.37:g.5625784A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_001003819	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																			A|0.949;G|0.051	0.051	strong		0.438	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		G	5625784	A	G	5625784	2	3	22	1	0	0	0	0	0	0	0	1	16530	349	13	2		2	TRIM6	11	5625784	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23509	5625784	129380732	5956	11064										
TRIM6	117854	hgsc.bcm.edu	37	chr11	5629607	5629607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttttccttcctaggatgtGagtgatgtcacagaaaggta	10	7	1	3	rs10769121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5629607G>A	ENST00000278302.5	+	5	896	c.756G>A	c.(754-756)gtG>gtA	p.V252V	TRIM6_ENST00000507320.1_Silent_p.V77V|TRIM6_ENST00000445329.1_Silent_p.V77V|TRIM6_ENST00000380107.1_Silent_p.V226V|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Silent_p.V280V|TRIM6_ENST00000515022.1_Silent_p.V77V|TRIM6_ENST00000506134.1_Silent_p.V77V|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.V280V|TRIM6_ENST00000481603.1_3'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	252					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.V280V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTAGGATGTGAGTGATGTCA	0.443													G|||	1987	0.396765	0.5643	0.3559	5008	,	,		22825	0.4335		0.2326	False		,,,				2504	0.3303				p.V280V		Atlas-SNP	.											TRIM6-TRIM34,NS,carcinoma,0,2	TRIM6-TRIM34	68	2	2	Substitution - coding silent(2)	stomach(2)	c.G840A						PASS	.	G	,,,,	2224,2178	592.9+/-387.9	563,1098,540	305	215	246		840,840,231,231,756	2.6	1	11	dbSNP_120	246	2128,6466	364.7+/-333.6	257,1614,2426	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	,,,,	820,2712,2966	AA,AG,GG		24.7615,49.4775,33.4872	,,,,	280/517,280/843,77/314,77/314,252/489	5629607	4352,8644	2201	4297	6498	SO:0001819	synonymous_variant	445372	exon5			GGATGTGAGTGAT	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.756G>A	11.37:g.5629607G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	197	93	0.472081	NM_001003819	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																			G|0.632;A|0.368	0.368	strong		0.443	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		A	5629607	G	A	5629607	2	1	22	1	0	0	0	0	0	0	0	1	16530	1277	45	2		2	TRIM6	11	5629607	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3823	5629607	129376909	5957	11065										
TRIM5	85363	hgsc.bcm.edu	37	chr11	5688940	5688940	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttatgacgccatccacaCcctaggaagaagagagaaaa	8	9	0	4	rs11038628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5688940C>T	ENST00000380034.3	-	5	1002	c.746G>A	c.(745-747)gGt>gAt	p.G249D	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Splice_Site_p.G249D|TRIM5_ENST00000396847.3_Splice_Site_p.G249D|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396855.3_Splice_Site_p.G249D	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	249			G -> D (in dbSNP:rs11038628). {ECO:0000269|PubMed:16401428, ECO:0000269|Ref.9}.		activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GCCATCCACACCCTAGGAAGA	0.418													C|||	1228	0.245208	0.3124	0.2291	5008	,	,		16810	0.4256		0.0586	False		,,,				2504	0.1718				p.G249D		Atlas-SNP	.											.	TRIM5	111	.	0			c.G746A						PASS	.	C	ASP/GLY,ASP/GLY,ASP/GLY	1122,3280	401.5+/-332.0	146,830,1225	131	119	123		746,746,746	1.3	1	11	dbSNP_120	123	502,8092	144.3+/-200.2	20,462,3815	yes	missense-near-splice,missense-near-splice,missense-near-splice	TRIM5	NM_033034.2,NM_033092.2,NM_033093.2	94,94,94	166,1292,5040	TT,TC,CC		5.8413,25.4884,12.4962	possibly-damaging,possibly-damaging,possibly-damaging	249/494,249/348,249/327	5688940	1624,11372	2201	4297	6498	SO:0001630	splice_region_variant	85363	exon5			TCCACACCCTAGG	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.745-1G>A	11.37:g.5688940C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	71	45	0.633803	NM_033093	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	CCDS31393.1	519|519	0.23763736263736263|0.23763736263736263	160|160	0.3252032520325203|0.3252032520325203	73|73	0.20165745856353592|0.20165745856353592	243|243	0.42482517482517484|0.42482517482517484	43|43	0.05672823218997362|0.05672823218997362	C|C	0.074|0.074	-1.197052|-1.197052	0.01594|0.01594	0.254884|0.254884	0.058413|0.058413	ENSG00000132256|ENSG00000132256	ENST00000396855;ENST00000380034;ENST00000380027;ENST00000396847|ENST00000438025	T;T;T;T|.	0.03920|.	3.76;3.76;3.76;3.76|.	3.6|3.6	1.31|1.31	0.21738|0.21738	.|.	118.454000|.	0.00166|.	N|.	0.000000|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02842|0.02842	-0.48|-0.48	0.09310|0.09310	P|P	0.99999999276468|0.99999999276468	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.002;0.001|.	T|T	0.47761|0.47761	-0.9092|-0.9092	9|4	0.02654|.	T|.	1|.	.|.	4.6583|4.6583	0.12630|0.12630	0.0:0.3059:0.0:0.6941|0.0:0.3059:0.0:0.6941	rs11038628;rs52820439;rs61161783;rs11038628|rs11038628;rs52820439;rs61161783;rs11038628	249;249;249|.	Q9C035-3;Q9C035-4;Q9C035|.	.;.;TRIM5_HUMAN|.	D|M	249|126	ENSP00000380064:G249D;ENSP00000369373:G249D;ENSP00000369366:G249D;ENSP00000380058:G249D|.	ENSP00000369366:G249D|.	G|V	-|-	2|1	0|0	TRIM5|TRIM5	5645516|5645516	0.411000|0.411000	0.25384|0.25384	0.971000|0.971000	0.41717|0.41717	0.026000|0.026000	0.11368|0.11368	-0.094000|-0.094000	0.11094|0.11094	0.279000|0.279000	0.22186|0.22186	-0.378000|-0.378000	0.06908|0.06908	GGT|GTG	C|0.821;T|0.179	0.179	strong		0.418	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034	Missense_Mutation	T	5688940	C	T	5688940	5	4	22	1	0	0	0	0	0	0	1	0	16522	521	18	2	990	2	TRIM5	11	5688940	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59333	5688940	129317576	5958	11066										
TRIM22	10346	hgsc.bcm.edu	37	chr11	5719649	5719649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaaaagctggaggaaggTgaggtgaatgtgctggataa	16	4	0	2	rs78484876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5719649T>C	ENST00000379965.3	+	4	901	c.624T>C	c.(622-624)ggT>ggC	p.G208G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	208					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGGAGGAAGGTGAGGTGAATG	0.512													T|||	135	0.0269569	0.0825	0.0072	5008	,	,		20336	0.0		0.004	False		,,,				2504	0.0174				p.G208G	GBM(104;491 2336 5222)	Atlas-SNP	.											.	TRIM22	66	.	0			c.T624C						PASS	.	T	,	248,3932		10,228,1852	70	78	76		612,624	-3.5	0	11	dbSNP_132	76	25,8435		0,25,4205	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	10,253,6057	CC,CT,TT		0.2955,5.933,2.1598	,	204/495,208/499	5719649	273,12367	2090	4230	6320	SO:0001819	synonymous_variant	10346	exon4			GGAAGGTGAGGTG	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.624T>C	11.37:g.5719649T>C		Somatic	217	1	0.00460829		WXS	Illumina HiSeq	Phase_I	239	116	0.485356	NM_006074	Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	CCDS41612.1																																																																																			T|0.990;C|0.010	0.010	strong		0.512	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		C	5719649	T	C	5719649	2	2	22	1	0	0	0	0	0	0	0	1	16493	1683	59	2		2	TRIM22	11	5719649	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30709	5719649	129286867	5959	11067										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862532	5862532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatactgccaagaccaaacAtaatgttgactttgatgctg	7	8	0	3	rs10742809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862532A>C	ENST00000329322.5	-	1	595	c.596T>G	c.(595-597)aTg>aGg	p.M199R	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M203R	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	199			M -> R (in dbSNP:rs10742809).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGACCAAACATAATGTTGAC	0.473													A|||	1644	0.328275	0.2224	0.304	5008	,	,		21378	0.4593		0.3439	False		,,,				2504	0.3374				p.M199R		Atlas-SNP	.											.	OR52E6	70	.	0			c.T596G						PASS	.	A	ARG/MET	1031,3371	373.4+/-320.8	122,787,1292	87	84	85		596	3.5	0	11	dbSNP_120	85	2800,5792	441.4+/-359.8	448,1904,1944	yes	missense	OR52E6	NM_001005167.1	91	570,2691,3236	CC,CA,AA		32.5885,23.4212,29.4828	benign	199/314	5862532	3831,9163	2201	4296	6497	SO:0001583	missense	390078	exon1			CCAAACATAATGT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.596T>G	11.37:g.5862532A>C	ENSP00000328878:p.Met199Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	751	0.34386446886446886	102	0.2073170731707317	115	0.31767955801104975	264	0.46153846153846156	270	0.3562005277044855	A	8.103	0.777055	0.16120	0.234212	0.325885	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00084	8.75;8.75	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	1.217830	0.05771	N	0.606787	T	0.00012	0.0000	N	0.16201	0.385	0.80722	P	0.0	B	0.02656	0.0	B	0.10450	0.005	T	0.13335	-1.0513	9	0.48119	T	0.1	.	10.9113	0.47110	1.0:0.0:0.0:0.0	rs10742809;rs61269500;rs10742809	199	Q96RD3	O52E6_HUMAN	R	199;203	ENSP00000328878:M199R;ENSP00000369279:M203R	ENSP00000328878:M199R	M	-	2	0	OR52E6	5819108	0.000000	0.05858	0.003000	0.11579	0.564000	0.35744	0.650000	0.24858	1.430000	0.47334	0.450000	0.29827	ATG	A|0.670;C|0.330	0.330	strong		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862532	A	C	5862532	3	2	22	1	0	0	0	0	1	0	0	0	11117	217	8	5	347	5	OR52E6	11	5862532	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	142883	5862532	129143984	5960	11068			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862653	5862653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagaaacaccagtggaaTgaccatgtacaagctcctca	10	10	1	2	rs4357719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862653T>C	ENST00000329322.5	-	1	474	c.475A>G	c.(475-477)Att>Gtt	p.I159V	OR52E6_ENST00000379946.2_Missense_Mutation_p.I163V|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	159			I -> V (in dbSNP:rs4357719).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGTGGAATGACCATGTAC	0.498													t|||	1924	0.384185	0.3782	0.3184	5008	,	,		20596	0.4593		0.3728	False		,,,				2504	0.3732				p.I159V		Atlas-SNP	.											.	OR52E6	70	.	0			c.A475G						PASS	.	C	VAL/ILE	1615,2787	499.3+/-364.4	291,1033,877	170	157	162		475	-6.9	0	11	dbSNP_111	162	3009,5583	464.3+/-366.2	533,1943,1820	yes	missense	OR52E6	NM_001005167.1	29	824,2976,2697	CC,CT,TT		35.0209,36.6879,35.5857	benign	159/314	5862653	4624,8370	2201	4296	6497	SO:0001583	missense	390078	exon1			GTGGAATGACCAT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.475A>G	11.37:g.5862653T>C	ENSP00000328878:p.Ile159Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	174	87	0.5	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	t	0.012	-1.651578	0.00785	0.366879	0.350209	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.37584	1.19;1.19	3.45	-6.91	0.01649	GPCR, rhodopsin-like superfamily (1);	1.903210	0.02623	N	0.103478	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.23190	-1.0195	9	0.30854	T	0.27	.	0.8012	0.01075	0.1831:0.2466:0.2267:0.3437	rs4357719;rs59781833;rs4357719	159	Q96RD3	O52E6_HUMAN	V	159;163	ENSP00000328878:I159V;ENSP00000369279:I163V	ENSP00000328878:I159V	I	-	1	0	OR52E6	5819229	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-12.782000	0.00001	-3.731000	0.00114	-2.248000	0.00284	ATT	T|0.605;C|0.395	0.395	strong		0.498	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862653	T	C	5862653	3	2	22	1	0	0	0	0	1	0	0	0	11117	1464	51	2	468	2	OR52E6	11	5862653	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	121	5862653	129143863	5961	11069			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862731	5862731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaggatcatggtgtaccAaagaggtttgcaaatggcaa	14	5	1	2	rs10838719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862731A>G	ENST00000329322.5	-	1	396	c.397T>C	c.(397-399)Tgg>Cgg	p.W133R	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.W137R	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	133			W -> R (in dbSNP:rs10838719).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGTACCAAAGAGGTTTG	0.473													A|||	1940	0.38738	0.2352	0.389	5008	,	,		21277	0.4593		0.5258	False		,,,				2504	0.3753				p.W133R		Atlas-SNP	.											OR52E6,NS,carcinoma,+2,2	OR52E6	70	2	0			c.T397C						PASS	.	A	ARG/TRP	1206,3196	418.7+/-338.4	169,868,1164	207	187	194		397	-6.9	0	11	dbSNP_120	194	4339,4253	579.2+/-390.9	1071,2197,1028	no	missense	OR52E6	NM_001005167.1	101	1240,3065,2192	GG,GA,AA		49.4995,27.3966,42.6735	benign	133/314	5862731	5545,7449	2201	4296	6497	SO:0001583	missense	390078	exon1			TGTACCAAAGAGG	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.397T>C	11.37:g.5862731A>G	ENSP00000328878:p.Trp133Arg	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	202	88	0.435644	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	864	0.3956043956043956	94	0.1910569105691057	141	0.38950276243093923	250	0.4370629370629371	379	0.5	a	0.012	-1.656056	0.00779	0.273966	0.505005	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.32272	1.46;1.46	3.45	-6.91	0.01649	GPCR, rhodopsin-like superfamily (1);	1.171350	0.06439	N	0.725641	T	0.00012	0.0000	N	0.00000	-4.27	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.53034	-0.8495	9	0.02654	T	1	.	5.0066	0.14291	0.3246:0.0:0.2032:0.4721	rs10838719	133	Q96RD3	O52E6_HUMAN	R	133;137	ENSP00000328878:W133R;ENSP00000369279:W137R	ENSP00000328878:W133R	W	-	1	0	OR52E6	5819307	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-0.533000	0.06157	-1.517000	0.01780	-0.319000	0.08680	TGG	A|0.622;G|0.378	0.378	strong		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		G	5862731	A	G	5862731	3	3	22	1	0	0	0	0	1	0	0	0	11117	130	5	2	546	2	OR52E6	11	5862731	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	78	5862731	129143785	5962	11070			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862780	5862780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaggccatggccaccaaTacgatgctctccatgacagt	8	13	2	1	rs4362172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862780T>C	ENST00000329322.5	-	1	347	c.348A>G	c.(346-348)gtA>gtG	p.V116V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.V120V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	116						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCACCAATACGATGCTCT	0.453													C|||	1924	0.384185	0.3782	0.3184	5008	,	,		22675	0.4603		0.3728	False		,,,				2504	0.3722				p.V116V		Atlas-SNP	.											.	OR52E6	70	.	0			c.A348G						PASS	.	C		1620,2782	661.0+/-400.8	294,1032,875	189	177	181		348	-1	0	11	dbSNP_111	181	3009,5583	664.5+/-402.2	533,1943,1820	no	coding-synonymous	OR52E6	NM_001005167.1		827,2975,2695	CC,CT,TT		35.0209,36.8015,35.6241		116/314	5862780	4629,8365	2201	4296	6497	SO:0001819	synonymous_variant	390078	exon1			CACCAATACGATG	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.348A>G	11.37:g.5862780T>C		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	179	79	0.441341	NM_001005167	Q6IFF8	Silent	SNP	ENST00000329322.5	37	CCDS53597.1																																																																																			T|0.607;C|0.393	0.393	strong		0.453	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862780	T	C	5862780	2	2	22	1	0	0	0	0	0	0	0	1	11117	1393	49	2		2	OR52E6	11	5862780	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49	5862780	129143736	5963	11071			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862845	5862845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaggtagcctccaaaagAtatttccttgatattgaacc	7	8	0	4	rs4592451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862845A>G	ENST00000329322.5	-	1	282	c.283T>C	c.(283-285)Tct>Cct	p.S95P	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S99P	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	95			S -> P (in dbSNP:rs4592451).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCAAAAGATATTTCCTTG	0.468													A|||	1923	0.383986	0.3782	0.3184	5008	,	,		22268	0.4593		0.3728	False		,,,				2504	0.3722				p.S95P		Atlas-SNP	.											.	OR52E6	70	.	0			c.T283C						PASS	.	A	PRO/SER	1619,2783	499.1+/-364.3	294,1031,876	134	133	133		283	-4.4	0	11	dbSNP_111	133	3009,5583	464.1+/-366.1	533,1943,1820	yes	missense	OR52E6	NM_001005167.1	74	827,2974,2696	GG,GA,AA		35.0209,36.7787,35.6164	possibly-damaging	95/314	5862845	4628,8366	2201	4296	6497	SO:0001583	missense	390078	exon1			CAAAAGATATTTC	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.283T>C	11.37:g.5862845A>G	ENSP00000328878:p.Ser95Pro	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	145	74	0.510345	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	A	14.27	2.483961	0.44147	0.367787	0.350209	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.41400	1.0;1.0	3.64	-4.43	0.03568	GPCR, rhodopsin-like superfamily (1);	0.410878	0.20792	N	0.085583	T	0.00012	0.0000	M	0.73598	2.24	0.80722	P	0.0	P	0.48016	0.904	P	0.49597	0.616	T	0.27502	-1.0072	9	0.54805	T	0.06	.	5.397	0.16275	0.2086:0.4033:0.0:0.3881	rs4592451;rs52793358;rs4592451	95	Q96RD3	O52E6_HUMAN	P	95;99	ENSP00000328878:S95P;ENSP00000369279:S99P	ENSP00000328878:S95P	S	-	1	0	OR52E6	5819421	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-4.844000	0.00179	-0.345000	0.08325	0.450000	0.29827	TCT	A|0.608;G|0.392	0.392	strong		0.468	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		G	5862845	A	G	5862845	3	3	22	1	0	0	0	0	1	0	0	0	11117	333	12	2	660	2	OR52E6	11	5862845	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	65	5862845	129143671	5964	11072			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862937	5862937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaatccaacatggccaggCagtagtacatgggctcatgg	13	9	1	0	rs4495918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862937C>A	ENST00000329322.5	-	1	190	c.191G>T	c.(190-192)tGc>tTc	p.C64F	OR52E6_ENST00000379946.2_Missense_Mutation_p.C68F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	64			C -> F (in dbSNP:rs4495918).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCCAGGCAGTAGTACAT	0.448													A|||	1924	0.384185	0.379	0.3184	5008	,	,		22509	0.4593		0.3728	False		,,,				2504	0.3722				p.C64F		Atlas-SNP	.											.	OR52E6	70	.	0			c.G191T						PASS	.	A	PHE/CYS	1620,2782	658.7+/-400.4	294,1032,875	125	123	124		191	3.6	0.5	11	dbSNP_111	124	3008,5584	663.9+/-402.1	533,1942,1821	no	missense	OR52E6	NM_001005167.1	205	827,2974,2696	AA,AC,CC		35.0093,36.8015,35.6164	benign	64/314	5862937	4628,8366	2201	4296	6497	SO:0001583	missense	390078	exon1			GCCAGGCAGTAGT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.191G>T	11.37:g.5862937C>A	ENSP00000328878:p.Cys64Phe	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	155	79	0.509677	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	A	0.003	-2.527363	0.00147	0.368015	0.350093	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00784	5.7;5.7	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.105180	0.42548	N	0.000695	T	0.00012	0.0000	N	0.00001	-3.875	0.52501	P	4.899999999996574E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.33803	-0.9854	9	0.02654	T	1	.	9.1143	0.36748	0.8144:0.1856:0.0:0.0	rs4495918;rs52836131;rs4495918	64	Q96RD3	O52E6_HUMAN	F	64;68	ENSP00000328878:C64F;ENSP00000369279:C68F	ENSP00000328878:C64F	C	-	2	0	OR52E6	5819513	0.540000	0.26410	0.519000	0.27824	0.036000	0.12997	4.740000	0.62087	0.475000	0.27415	-0.381000	0.06696	TGC	C|0.611;A|0.389	0.389	strong		0.448	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		A	5862937	C	A	5862937	3	1	22	1	0	0	0	0	1	0	0	0	11117	710	25	4	752	4	OR52E6	11	5862937	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92	5862937	129143579	5965	11073			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862984	5862984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcagtttggatcacaaaGaagatagcagcatttcccag	9	9	2	2	rs10769272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5862984G>C	ENST00000329322.5	-	1	143	c.144C>G	c.(142-144)ttC>ttG	p.F48L	OR52E6_ENST00000379946.2_Missense_Mutation_p.F52L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	48			F -> L (in dbSNP:rs10769272).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F52L(1)|p.F48L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCACAAAGAAGATAGCAG	0.483													C|||	1924	0.384185	0.379	0.3184	5008	,	,		20915	0.4593		0.3728	False		,,,				2504	0.3722				p.F48L		Atlas-SNP	.											OR52E6,NS,carcinoma,0,1	OR52E6	70	1	2	Substitution - Missense(2)	prostate(2)	c.C144G						PASS	.	C	LEU/PHE	1620,2782	652.3+/-399.4	294,1032,875	120	120	120		144	-7.3	0	11	dbSNP_120	120	3010,5582	662.7+/-402.0	533,1944,1819	yes	missense	OR52E6	NM_001005167.1	22	827,2976,2694	CC,CG,GG		35.0326,36.8015,35.6318	benign	48/314	5862984	4630,8364	2201	4296	6497	SO:0001583	missense	390078	exon1			CACAAAGAAGATA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.144C>G	11.37:g.5862984G>C	ENSP00000328878:p.Phe48Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	146	77	0.527397	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	C	0.015	-1.558484	0.00910	0.368015	0.350326	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00482	8.17;7.1	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	N	0.000475	T	0.00012	0.0000	N	0.00022	-2.74	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.02654	T	1	.	4.0047	0.09595	0.163:0.1201:0.4805:0.2364	rs10769272;rs52812932;rs10769272	48	Q96RD3	O52E6_HUMAN	L	48;52	ENSP00000328878:F48L;ENSP00000369279:F52L	ENSP00000328878:F48L	F	-	3	2	OR52E6	5819560	0.000000	0.05858	0.001000	0.08648	0.436000	0.31835	-7.918000	0.00027	-1.655000	0.01497	-0.231000	0.12243	TTC	G|0.607;C|0.393	0.393	strong		0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862984	G	C	5862984	3	2	22	1	0	0	0	0	1	0	0	0	11117	933	33	4	799	4	OR52E6	11	5862984	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47	5862984	129143532	5966	11074			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5863013	5863013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatttcccaggagtgcaaTaagatacacagagaaaaaag	9	7	0	2	rs4362173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5863013T>C	ENST00000329322.5	-	1	114	c.115A>G	c.(115-117)Att>Gtt	p.I39V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.I43V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	39			I -> V (in dbSNP:rs4362173).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGTGCAATAAGATACACA	0.468													C|||	1924	0.384185	0.379	0.3184	5008	,	,		20747	0.4593		0.3728	False		,,,				2504	0.3722				p.I39V		Atlas-SNP	.											.	OR52E6	70	.	0			c.A115G						PASS	.	C	VAL/ILE	1625,2775	632.2+/-395.8	300,1025,875	119	119	119		115	-3.2	0	11	dbSNP_111	119	3011,5581	659.9+/-401.7	534,1943,1819	yes	missense	OR52E6	NM_001005167.1	29	834,2968,2694	CC,CT,TT		35.0442,36.9318,35.6835	benign	39/314	5863013	4636,8356	2200	4296	6496	SO:0001583	missense	390078	exon1			GTGCAATAAGATA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.115A>G	11.37:g.5863013T>C	ENSP00000328878:p.Ile39Val	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	175	94	0.537143	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	879	0.4024725274725275	201	0.40853658536585363	120	0.3314917127071823	264	0.46153846153846156	294	0.38786279683377306	C	0	-2.611809	0.00120	0.369318	0.350442	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00253	8.43;8.43	3.64	-3.21	0.05140	.	0.674836	0.13488	N	0.384173	T	0.00012	0.0000	N	0.12569	0.235	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.23048	-1.0199	9	0.02654	T	1	.	7.5924	0.28029	0.1155:0.2699:0.0:0.6146	rs4362173;rs52822593;rs4362173	39	Q96RD3	O52E6_HUMAN	V	39;43	ENSP00000328878:I39V;ENSP00000369279:I43V	ENSP00000328878:I39V	I	-	1	0	OR52E6	5819589	0.000000	0.05858	0.002000	0.10522	0.119000	0.20118	-5.184000	0.00143	-0.999000	0.03442	-0.229000	0.12294	ATT	T|0.606;C|0.394	0.394	strong		0.468	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5863013	T	C	5863013	3	2	22	1	0	0	0	0	1	0	0	0	11117	1406	49	2	828	2	OR52E6	11	5863013	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29	5863013	129143503	5967	11075			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E6	390078	hgsc.bcm.edu	37	chr11	5863113	5863113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtatggaactgggtgtcGttagctataggcattctttc	12	6	1	0	rs10742810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5863113G>A	ENST00000329322.5	-	1	14	c.15C>T	c.(13-15)aaC>aaT	p.N5N	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.N9N	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	5						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGGTGTCGTTAGCTATAG	0.408													A|||	1924	0.384185	0.379	0.3184	5008	,	,		20800	0.4593		0.3728	False		,,,				2504	0.3722				p.N5N		Atlas-SNP	.											OR52E6,NS,carcinoma,0,1	OR52E6	70	1	0			c.C15T						scavenged	.	A		1565,2771		287,991,890	66	63	64		15	-0.6	0	11	dbSNP_120	64	2999,5575		538,1923,1826	no	coding-synonymous	OR52E6	NM_001005167.1		825,2914,2716	AA,AG,GG		34.9778,36.0932,35.3524		5/314	5863113	4564,8346	2168	4287	6455	SO:0001819	synonymous_variant	390078	exon1			GGTGTCGTTAGCT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.15C>T	11.37:g.5863113G>A		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	137	67	0.489051	NM_001005167	Q6IFF8	Silent	SNP	ENST00000329322.5	37	CCDS53597.1																																																																																			G|0.605;A|0.395	0.395	strong		0.408	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		A	5863113	G	A	5863113	2	1	22	1	0	0	0	0	0	0	0	1	11117	1136	40	1		1	OR52E6	11	5863113	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100	5863113	129143403	5968	11076			20	49	418396	9	9	582	N	T_G_C_A	6.738045e-11
OR52E8	390079	hgsc.bcm.edu	37	chr11	5878458	5878458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtggaacaaccatgtacaGgctcctcaggacagcaatgc	10	12	1	0	rs549924845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5878458G>A	ENST00000537935.1	-	1	506	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAGGCTCCTCAGG	0.507													G|||	10	0.00199681	0.0068	0.0	5008	,	,		18808	0.0		0.0	False		,,,				2504	0.001				p.L159L		Atlas-SNP	.											OR52E8,NS,carcinoma,0,1	OR52E8	54	1	0			c.C475T						scavenged	.						135	147	143					11																	5878458		2154	4296	6450	SO:0001819	synonymous_variant	390079	exon1			TGTACAGGCTCCT	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.475C>T	11.37:g.5878458G>A		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	207	7	0.0338164	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.	.	none		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	22	1	0	0	0	0	0	0	0	1	11118	991	35	2		2	OR52E8	11	5878458	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15345	5878458	129128058	5969	11077										
OR52E4	390081	hgsc.bcm.edu	37	chr11	5906205	5906205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatccttagagctgtttttcGccttccctctcaagatgtcc	6	13	1	2	rs4757987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:5906205G>A	ENST00000316987.2	+	1	705	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	228			R -> H (in dbSNP:rs4757987).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTTTTTCGCCTTCCCTCT	0.388													G|||	2115	0.422324	0.4894	0.3516	5008	,	,		21841	0.4613		0.3907	False		,,,				2504	0.3742				p.R228H		Atlas-SNP	.											.	OR52E4	65	.	0			c.G683A						PASS	.	G	HIS/ARG	2083,2319	572.5+/-383.3	497,1089,615	300	257	272		683	0.1	0	11	dbSNP_111	272	3142,5450	477.4+/-369.6	585,1972,1739	yes	missense	OR52E4	NM_001005165.1	29	1082,3061,2354	AA,AG,GG		36.5689,47.3194,40.2109	benign	228/313	5906205	5225,7769	2201	4296	6497	SO:0001583	missense	390081	exon1			TTTTTCGCCTTCC	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.683G>A	11.37:g.5906205G>A	ENSP00000321426:p.Arg228His	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	316	151	0.477848	NM_001005165	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	944	0.43223443223443225	240	0.4878048780487805	131	0.36187845303867405	265	0.4632867132867133	308	0.40633245382585753	G	6.342	0.431134	0.12045	0.473194	0.365689	ENSG00000180974	ENST00000316987	T	0.00262	8.4	5.15	0.0472	0.14280	GPCR, rhodopsin-like superfamily (1);	0.135165	0.32190	N	0.006445	T	0.00012	0.0000	L	0.52759	1.655	0.80722	P	0.0	B	0.10296	0.003	B	0.15484	0.013	T	0.06499	-1.0823	9	0.18276	T	0.48	.	9.6342	0.39798	0.3688:0.0:0.6312:0.0	rs4757987	228	Q8NGH9	O52E4_HUMAN	H	228	ENSP00000321426:R228H	ENSP00000321426:R228H	R	+	2	0	OR52E4	5862781	0.000000	0.05858	0.023000	0.16930	0.756000	0.42949	-1.394000	0.02518	0.078000	0.16900	-0.149000	0.13747	CGC	G|0.588;A|0.412	0.412	strong		0.388	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		A	5906205	G	A	5906205	3	1	22	1	0	0	0	0	1	0	0	0	11116	1087	38	1	685	1	OR52E4	11	5906205	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27747	5906205	129100311	5970	11078										
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007272	6007272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggcatgaggagataccAtgtggccagaagaacatgga	15	6	0	4	rs4237768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6007272A>G	ENST00000332249.4	-	1	943	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	297			W -> R (in dbSNP:rs4237768). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGATACCATGTGGCCAGA	0.493													.|||	4152	0.829073	0.7821	0.8703	5008	,	,		22363	0.8681		0.8489	False		,,,				2504	0.8027				p.W297R	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											.	OR52L1	100	.	0			c.T889C						PASS	.	G	ARG/TRP	3295,887		1294,707,90	83	84	83		889	2.6	0.9	11	dbSNP_111	83	6994,1490		2886,1222,134	yes	missense	OR52L1	NM_001005173.2	101	4180,1929,224	GG,GA,AA		17.5625,21.2099,18.7668	benign	297/330	6007272	10289,2377	2091	4242	6333	SO:0001583	missense	338751	exon1			GATACCATGTGGC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.889T>C	11.37:g.6007272A>G	ENSP00000330338:p.Trp297Arg	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	140	67	0.478571	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	1845	0.8447802197802198	381	0.774390243902439	312	0.861878453038674	512	0.8951048951048951	640	0.8443271767810027	G	1.924	-0.447696	0.04572	0.787901	0.824375	ENSG00000183313	ENST00000332249	T	0.00084	8.75	3.54	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001486	T	0.00012	0.0000	M	0.94101	3.495	0.58432	P	1.999999999946489E-6	B	0.06786	0.001	B	0.01281	0.0	T	0.48681	-0.9014	9	0.66056	D	0.02	.	5.0625	0.14564	0.1965:0.0:0.6388:0.1647	rs4237768;rs17265701;rs52807381;rs57331053;rs4237768	297	Q8NGH7	O52L1_HUMAN	R	297	ENSP00000330338:W297R	ENSP00000330338:W297R	W	-	1	0	OR52L1	5963848	0.000000	0.05858	0.947000	0.38551	0.008000	0.06430	-2.451000	0.01006	0.318000	0.23185	-1.803000	0.00618	TGG	A|0.165;G|0.835	0.835	strong		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		G	6007272	A	G	6007272	3	3	22	1	0	0	0	0	1	0	0	0	11125	217	8	2	104	2	OR52L1	11	6007272	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	101067	6007272	128999244	5971	11079										
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007679	6007679	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaccaccattccgatgCaccctatgacccctggatgc					rs61742092|rs386750238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6007679C>T	ENST00000332249.4	-	1	536	c.482G>A	c.(481-483)tGc>tAc	p.C161Y		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	161			C -> R (in dbSNP:rs4436524). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCCGATGCACCCTATGAC	0.512													.|||	122	0.024361	0.0855	0.013	5008	,	,		23519	0.0		0.0	False		,,,				2504	0.0				p.C161Y	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											OR52L1_ENST00000332249,NS,carcinoma,-1,2	OR52L1	100	2	0			c.G482A						PASS	.	C	TYR/CYS	26,4038		3,20,2009	76	73	74		482	0.5	0	11	dbSNP_129	74	2,8378		0,2,4188	no	missense	OR52L1	NM_001005173.2	194	3,22,6197	TT,TC,CC		0.0239,0.6398,0.225	benign	161/330	6007679	28,12416	2032	4190	6222	SO:0001583	missense	338751	exon1			CCGATGCACCCTA	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.482G>A	11.37:g.6007679C>T	ENSP00000330338:p.Cys161Tyr	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	160	70	0.4375	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	C	0.004	-2.262469	0.00262	0.006398	2.39E-4	ENSG00000183313	ENST00000332249	T	0.36520	1.25	3.85	0.545	0.17190	GPCR, rhodopsin-like superfamily (1);	0.486110	0.17495	N	0.172195	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15867	-1.0422	10	0.18276	T	0.48	.	4.1238	0.10118	0.0:0.4045:0.2702:0.3253	.	161	Q8NGH7	O52L1_HUMAN	Y	161	ENSP00000330338:C161Y	ENSP00000330338:C161Y	C	-	2	0	OR52L1	5964255	0.000000	0.05858	0.027000	0.17364	0.006000	0.05464	-3.285000	0.00526	0.235000	0.21160	0.313000	0.20887	TGC	A|0.000;C|0.988;T|0.012	0.012	strong		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		T	6007679	C	T	6007679	3	4	22	1	0	0	0	0	1	0	0	0	11125	710	25	2	511	2	OR52L1	11	6007679	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	407	6007679	128998837	5972	11080	225	2								
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007680	6007680	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaccaccattccgatgcAccctatgacccctggatgca					rs4436524|rs386750238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6007680A>G	ENST00000332249.4	-	1	535	c.481T>C	c.(481-483)Tgc>Cgc	p.C161R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	161			C -> R (in dbSNP:rs4436524). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCCGATGCACCCTATGACC	0.517													.|||	3759	0.750599	0.562	0.8357	5008	,	,		23293	0.8631		0.8171	False		,,,				2504	0.7607				p.C161R	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											OR52L1_ENST00000332249,NS,carcinoma,0,2	OR52L1	100	2	0			c.T481C						PASS	.	G	ARG/CYS	2544,1520		834,876,322	74	71	72		481	0.2	0	11	dbSNP_111	72	6656,1726		2648,1360,183	no	missense	OR52L1	NM_001005173.2	180	3482,2236,505	GG,GA,AA		20.5917,37.4016,26.0807	benign	161/330	6007680	9200,3246	2032	4191	6223	SO:0001583	missense	338751	exon1			CGATGCACCCTAT	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.481T>C	11.37:g.6007680A>G	ENSP00000330338:p.Cys161Arg	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	160	71	0.44375	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	1698	0.7774725274725275	278	0.5650406504065041	296	0.8176795580110497	507	0.8863636363636364	617	0.8139841688654353	G	0	-2.730502	0.00089	0.625984	0.794083	ENSG00000183313	ENST00000332249	T	0.35973	1.28	3.85	0.241	0.15494	GPCR, rhodopsin-like superfamily (1);	0.486110	0.17495	N	0.172195	T	0.00012	0.0000	N	0.01228	-0.945	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	9	0.15952	T	0.53	.	2.2228	0.03977	0.2875:0.1684:0.431:0.1131	rs4436524;rs17265708;rs52827577;rs61074917;rs4436524	161	Q8NGH7	O52L1_HUMAN	R	161	ENSP00000330338:C161R	ENSP00000330338:C161R	C	-	1	0	OR52L1	5964256	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	-4.145000	0.00286	-0.371000	0.08004	-3.149000	0.00058	TGC	A|0.245;G|0.755;T|0.000	0.755	strong		0.517	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		G	6007680	A	G	6007680	3	3	22	1	0	0	0	0	1	0	0	0	11125	159	6	2	512	2	OR52L1	11	6007680	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	6007680	128998836	5973	11081	225	2								
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007743	6007743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacaaatggctacatagcAatccagagccatggccacaa	9	11	0	2	rs4436525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6007743A>G	ENST00000332249.4	-	1	472	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	140			C -> R (in dbSNP:rs4436525). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATAGCAATCCAGAGCC	0.527													.|||	4011	0.800919	0.7428	0.853	5008	,	,		22693	0.8681		0.7863	False		,,,				2504	0.7883				p.C140R	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											.	OR52L1	100	.	0			c.T418C						PASS	.	G	ARG/CYS	3038,1074		1115,808,133	43	44	44		418	2.5	1	11	dbSNP_111	44	6419,1983		2474,1471,256	no	missense	OR52L1	NM_001005173.2	180	3589,2279,389	GG,GA,AA		23.6015,26.1187,24.4286	benign	140/330	6007743	9457,3057	2056	4201	6257	SO:0001583	missense	338751	exon1			CATAGCAATCCAG	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.418T>C	11.37:g.6007743A>G	ENSP00000330338:p.Cys140Arg	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	104	39	0.375	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	1691	0.7742673992673993	346	0.7032520325203252	296	0.8176795580110497	496	0.8671328671328671	553	0.7295514511873351	G	0.011	-1.724626	0.00694	0.738813	0.763985	ENSG00000183313	ENST00000332249	T	0.04809	3.55	3.5	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	N	0.000875	T	0.00012	0.0000	.	.	.	0.31669	P	0.6446270000000001	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	8	0.02654	T	1	.	6.3452	0.21345	0.1058:0.0:0.7146:0.1796	rs4436525;rs41442444;rs58231611;rs4436525	140	Q8NGH7	O52L1_HUMAN	R	140	ENSP00000330338:C140R	ENSP00000330338:C140R	C	-	1	0	OR52L1	5964319	0.998000	0.40836	0.996000	0.52242	0.516000	0.34256	1.845000	0.39279	0.588000	0.29660	-0.642000	0.03964	TGC	A|0.286;G|0.714	0.714	strong		0.527	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		G	6007743	A	G	6007743	3	3	22	1	0	0	0	0	1	0	0	0	11125	130	5	2	575	2	OR52L1	11	6007743	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63	6007743	128998773	5974	11082										
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007992	6007992	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggtaacattgcccactaAagcaaggaggtaaaggatgc	11	7	0	0	rs115266467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6007992A>G	ENST00000332249.4	-	1	223	c.169T>C	c.(169-171)Tta>Cta	p.L57L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCCCACTAAAGCAAGGAGG	0.512													.|||	116	0.0231629	0.0809	0.013	5008	,	,		22867	0.0		0.0	False		,,,				2504	0.0				p.L57L	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											.	OR52L1	100	.	0			c.T169C						PASS	.	G		204,3818		9,186,1816	75	75	75		169	0.5	0.9	11	dbSNP_132	75	6,8360		0,6,4177	no	coding-synonymous	OR52L1	NM_001005173.2		9,192,5993	GG,GA,AA		0.0717,5.0721,1.6952		57/330	6007992	210,12178	2011	4183	6194	SO:0001819	synonymous_variant	338751	exon1			CCACTAAAGCAAG	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.169T>C	11.37:g.6007992A>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	163	74	0.453988	NM_001005173	B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	CCDS44529.1																																																																																			A|0.989;G|0.011	0.011	strong		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		G	6007992	A	G	6007992	2	3	22	1	0	0	0	0	0	0	0	1	11125	11	1	2		2	OR52L1	11	6007992	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	249	6007992	128998524	5975	11083										
CNGA4	1262	hgsc.bcm.edu	37	chr11	6262715	6262715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgaggtagccatcttacaGcacttgcctgagcggctgcg	12	12	1	1	rs7129498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6262715G>A	ENST00000379936.2	+	5	1087	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CNGA4_ENST00000533426.1_Silent_p.Q93Q	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	324					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCTTACAGCACTTGCCTG	0.552													G|||	1062	0.212061	0.4546	0.1599	5008	,	,		21775	0.0407		0.163	False		,,,				2504	0.1483				p.Q324Q		Atlas-SNP	.											.	CNGA4	96	.	0			c.G972A						PASS	.	G		1736,2666	518.6+/-369.8	334,1068,799	99	93	95		972	1.2	1	11	dbSNP_116	95	1513,7079	287.0+/-298.0	125,1263,2908	no	coding-synonymous	CNGA4	NM_001037329.3		459,2331,3707	AA,AG,GG		17.6094,39.4366,25.0038		324/576	6262715	3249,9745	2201	4296	6497	SO:0001819	synonymous_variant	1262	exon5			CTTACAGCACTTG	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.972G>A	11.37:g.6262715G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	140	68	0.485714	NM_001037329		Silent	SNP	ENST00000379936.2	37	CCDS31408.1																																																																																			G|0.774;A|0.226	0.226	strong		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		A	6262715	G	A	6262715	2	1	22	1	0	0	0	0	0	0	0	1	3599	962	34	2		2	CNGA4	11	6262715	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	254723	6262715	128743801	5976	11084										
CNGA4	1262	hgsc.bcm.edu	37	chr11	6262909	6262909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagagatgtacatcatccGagagggtcaactggccgtgg	13	10	2	2	rs61745230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6262909G>A	ENST00000379936.2	+	5	1281	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CNGA4_ENST00000533426.1_Missense_Mutation_p.R158Q	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	389					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACATCATCCGAGAGGGTCAA	0.532													G|||	143	0.0285543	0.0492	0.0317	5008	,	,		22525	0.0129		0.0308	False		,,,				2504	0.0123				p.R389Q		Atlas-SNP	.											.	CNGA4	96	.	0			c.G1166A						PASS	.	G	GLN/ARG	215,4187	131.0+/-167.6	5,205,1991	278	238	251		1166	5	1	11	dbSNP_129	251	193,8399	84.5+/-147.0	3,187,4106	yes	missense	CNGA4	NM_001037329.3	43	8,392,6097	AA,AG,GG		2.2463,4.8841,3.1399	probably-damaging	389/576	6262909	408,12586	2201	4296	6497	SO:0001583	missense	1262	exon5			TCATCCGAGAGGG	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1166G>A	11.37:g.6262909G>A	ENSP00000369268:p.Arg389Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	160	78	0.4875	NM_001037329		Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	65	0.02976190476190476	27	0.054878048780487805	14	0.03867403314917127	6	0.01048951048951049	18	0.023746701846965697	G	17.57	3.422670	0.62733	0.048841	0.022463	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.92299	-3.01;-3.01	5.0	5.0	0.66597	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.139396	0.49305	D	0.000150	T	0.50718	0.1632	N	0.20445	0.575	0.37153	D	0.90222	P;P;P	0.49961	0.806;0.93;0.803	B;B;B	0.39339	0.249;0.174;0.297	T	0.74134	-0.3763	10	0.24483	T	0.36	.	10.5989	0.45354	0.0881:0.0:0.9119:0.0	rs61745230	158;389;349	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	Q	158;389	ENSP00000433399:R158Q;ENSP00000369268:R389Q	ENSP00000369268:R389Q	R	+	2	0	CNGA4	6219485	0.642000	0.27260	0.957000	0.39632	0.974000	0.67602	1.297000	0.33400	2.588000	0.87417	0.655000	0.94253	CGA	G|0.966;A|0.034	0.034	strong		0.532	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		A	6262909	G	A	6262909	3	1	22	1	0	0	0	0	1	0	0	0	3599	1058	37	1	1184	1	CNGA4	11	6262909	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	194	6262909	128743607	5977	11085										
CNGA4	1262	hgsc.bcm.edu	37	chr11	6262945	6262945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggtggcagatgatggtaTcacacagtatgctgtgctcg	14	8	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6262945T>C	ENST00000379936.2	+	5	1317	c.1202T>C	c.(1201-1203)aTc>aCc	p.I401T	CNGA4_ENST00000533426.1_Missense_Mutation_p.I170T	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	401					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGATGGTATCACACAGTAT	0.502																																					p.I401T		Atlas-SNP	.											CNGA4,arm,malignant_melanoma,-1,1	CNGA4	96	1	0			c.T1202C						scavenged	.						262	223	236					11																	6262945		2201	4296	6497	SO:0001583	missense	1262	exon5			ATGGTATCACACA	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1202T>C	11.37:g.6262945T>C	ENSP00000369268:p.Ile401Thr	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	176	2	0.0113636	NM_001037329		Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764941	0.49574	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.96522	-4.04;-4.04	5.0	5.0	0.66597	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.264148	0.36303	N	0.002667	D	0.89164	0.6637	N	0.04320	-0.23	0.42043	D	0.991081	B;B;B	0.15141	0.012;0.001;0.006	B;B;B	0.20577	0.03;0.012;0.009	D	0.85541	0.1215	10	0.14656	T	0.56	.	13.6811	0.62487	0.0:0.0:0.0:1.0	.	170;401;361	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	T	170;401	ENSP00000433399:I170T;ENSP00000369268:I401T	ENSP00000369268:I401T	I	+	2	0	CNGA4	6219521	0.065000	0.20965	0.919000	0.36401	0.967000	0.64934	2.558000	0.45879	2.092000	0.63282	0.533000	0.62120	ATC	.	.	none		0.502	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		C	6262945	T	C	6262945	3	2	22	1	0	0	0	0	1	0	0	0	3599	1435	50	2	1220	2	CNGA4	11	6262945	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36	6262945	128743571	5978	11086										
CCKBR	887	hgsc.bcm.edu	37	chr11	6291120	6291120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacattcatctttggcaccGtcatctgcaaggcggtttcc	9	13	4	0	rs1805002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6291120G>A	ENST00000334619.2	+	2	566	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.V125I|CCKBR_ENST00000525014.1_Missense_Mutation_p.V125I	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	125			V -> I (in dbSNP:rs1805002).		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTTTGGCACCGTCATCTGCAA	0.592													G|||	226	0.0451278	0.062	0.0346	5008	,	,		18733	0.0198		0.0636	False		,,,				2504	0.0368				p.V125I		Atlas-SNP	.											.	CCKBR	232	.	0			c.G373A	GRCh37	CM024094	CCKBR	M	rs1805002	PASS	.	G	ILE/VAL	250,4152	145.0+/-179.8	7,236,1958	83	69	74		373	3.9	1	11	dbSNP_89	74	458,8134	136.2+/-193.3	16,426,3854	yes	missense	CCKBR	NM_176875.2	29	23,662,5812	AA,AG,GG		5.3305,5.6792,5.4487	benign	125/448	6291120	708,12286	2201	4296	6497	SO:0001583	missense	887	exon2			GGCACCGTCATCT	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.373G>A	11.37:g.6291120G>A	ENSP00000335544:p.Val125Ile	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_176875	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	100	0.045787545787545784	30	0.06097560975609756	14	0.03867403314917127	13	0.022727272727272728	43	0.05672823218997362	G	16.88	3.245072	0.59103	0.056792	0.053305	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.72051	-0.62;-0.62;-0.62	4.83	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.234868	0.35615	N	0.003083	T	0.12860	0.0312	L	0.41632	1.29	0.27696	N	0.945969	P;B;P	0.43231	0.801;0.334;0.462	B;B;B	0.33750	0.081;0.038;0.169	T	0.12218	-1.0556	10	0.34782	T	0.22	.	13.1706	0.59595	0.0:0.0:0.8388:0.1612	rs1805002;rs17239904;rs17846997;rs52798899;rs60198583;rs1805002	125;59;125	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	125	ENSP00000335544:V125I;ENSP00000437001:V125I;ENSP00000435534:V125I	ENSP00000335544:V125I	V	+	1	0	CCKBR	6247696	0.997000	0.39634	0.996000	0.52242	0.910000	0.53928	4.442000	0.59988	1.233000	0.43693	0.563000	0.77884	GTC	G|0.949;A|0.051	0.051	strong		0.592	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		A	6291120	G	A	6291120	3	1	22	1	0	0	0	0	1	0	0	0	2881	1145	40	1	379	1	CCKBR	11	6291120	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28175	6291120	128715396	5979	11087										
TRIM3	10612	hgsc.bcm.edu	37	chr11	6477831	6477831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggtccaccactggcacCggaaggcgcgtgccgtccgg	15	14	0	0	rs10606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6477831C>T	ENST00000525074.1	-	6	1519	c.1125G>A	c.(1123-1125)ccG>ccA	p.P375P	TRIM3_ENST00000537602.1_Silent_p.P297P|TRIM3_ENST00000345851.3_Silent_p.P375P|TRIM3_ENST00000536344.1_Silent_p.P256P|TRIM3_ENST00000359518.3_Silent_p.P375P|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	375					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P375P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACTGGCACCGGAAGGCGCG	0.637													C|||	940	0.1877	0.2973	0.1772	5008	,	,		18660	0.0188		0.1849	False		,,,				2504	0.2239				p.P375P	Melanoma(6;5 510 1540 25169 29084)	Atlas-SNP	.											TRIM3,NS,lymphoid_neoplasm,0,1	TRIM3	67	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1125A						PASS	.	C	,	1261,3125		180,901,1112	31	31	31		1125,1125	-10.3	0	11	dbSNP_52	31	1738,6816		198,1342,2737	no	coding-synonymous,coding-synonymous	TRIM3	NM_006458.2,NM_033278.2	,	378,2243,3849	TT,TC,CC		20.318,28.7506,23.1762	,	375/745,375/745	6477831	2999,9941	2193	4277	6470	SO:0001819	synonymous_variant	10612	exon6			TGGCACCGGAAGG	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1125G>A	11.37:g.6477831C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	65	36	0.553846	NM_001248006	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																			C|0.791;T|0.209	0.209	strong		0.637	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		T	6477831	C	T	6477831	2	4	22	1	0	0	0	0	0	0	0	1	16501	639	23	1		1	TRIM3	11	6477831	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	186711	6477831	128528685	5980	11088										
TRIM3	10612	hgsc.bcm.edu	37	chr11	6478619	6478619	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcctcgaacgctgcactGatctgggccagggcctctgc	13	14	2	1	rs16913748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6478619G>A	ENST00000525074.1	-	5	997	c.603C>T	c.(601-603)atC>atT	p.I201I	TRIM3_ENST00000537602.1_Silent_p.I201I|TRIM3_ENST00000345851.3_Silent_p.I201I|TRIM3_ENST00000536344.1_Silent_p.I82I|TRIM3_ENST00000359518.3_Silent_p.I201I|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	201					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGCACTGATCTGGGCCA	0.617													G|||	938	0.1873	0.2973	0.1772	5008	,	,		20774	0.0188		0.1849	False		,,,				2504	0.2219				p.I201I	Melanoma(6;5 510 1540 25169 29084)	Atlas-SNP	.											.	TRIM3	67	.	0			c.C603T						PASS	.	G	,	1271,3131	434.1+/-343.8	178,915,1108	95	87	90		603,603	2.1	1	11	dbSNP_123	90	1764,6828	318.4+/-313.7	189,1386,2721	no	coding-synonymous,coding-synonymous	TRIM3	NM_006458.2,NM_033278.2	,	367,2301,3829	AA,AG,GG		20.5307,28.8732,23.3569	,	201/745,201/745	6478619	3035,9959	2201	4296	6497	SO:0001819	synonymous_variant	10612	exon5			TGCACTGATCTGG	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.603C>T	11.37:g.6478619G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	77	35	0.454545	NM_001248006	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																			G|0.791;A|0.209	0.209	strong		0.617	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		A	6478619	G	A	6478619	2	1	22	1	0	0	0	0	0	0	0	1	16501	1280	45	2		2	TRIM3	11	6478619	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	788	6478619	128527897	5981	11089										
FXC1	26515	hgsc.bcm.edu	37	chr11	6502780	6502780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcagcaacagcaactgCgaaacgtaagtgagaactaa	10	9	0	1	rs11555935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6502780C>A	ENST00000254616.6	+	1	104	c.34C>A	c.(34-36)Cga>Aga	p.R12R	ARFIP2_ENST00000445086.2_5'Flank|ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000396777.3_5'Flank|ARFIP2_ENST00000423813.2_5'Flank|TIMM10B_ENST00000472836.1_Silent_p.R12R|ARFIP2_ENST00000525235.1_5'Flank|TIMM10B_ENST00000530751.1_Silent_p.R12R	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	12					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										acagcaACTGCGAAACGTAAG	0.607													A|||	837	0.167133	0.2118	0.1686	5008	,	,		17547	0.0327		0.1839	False		,,,				2504	0.227				p.R12R		Atlas-SNP	.											.	.	.	.	0			c.C34A						PASS	.	A		910,3492	721.9+/-409.2	93,724,1384	98	67	78		34	2.9	0.9	11	dbSNP_120	78	1667,6925	727.2+/-406.6	170,1327,2799	no	coding-synonymous	FXC1	NM_012192.3		263,2051,4183	AA,AC,CC		19.4018,20.6724,19.8322		12/104	6502780	2577,10417	2201	4296	6497	SO:0001819	synonymous_variant	26515	exon1			CAACTGCGAAACG	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"fracture callus 1 (rat) homolog", "fracture callus 1 homolog (rat)"	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.34C>A	11.37:g.6502780C>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_012192	Q96FF3	Silent	SNP	ENST00000254616.6	37	CCDS7766.1																																																																																			A|0.180;C|0.820;G|0.000;T|0.000	0.180	strong		0.607	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		A	6502780	C	A	6502780	2	1	22	1	0	0	0	0	0	0	0	1	6113	760	27	4		4	FXC1	11	6502780	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24161	6502780	128503736	5982	11090										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6524072	6524072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttccttcctggatagccAggtgatgactgctctgaaga	11	10	1	4	rs11605196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6524072A>C	ENST00000527990.2	+	2	836	c.836A>C	c.(835-837)cAg>cCg	p.Q279P	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q279P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q279P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	279			Q -> P (in dbSNP:rs11605196).		microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGATAGCCAGGTGATGACT	0.502													A|||	499	0.0996406	0.0408	0.147	5008	,	,		20522	0.0169		0.1789	False		,,,				2504	0.1493				p.Q279P		Atlas-SNP	.											.	DNHD1	198	.	0			c.A836C						PASS	.	A	PRO/GLN,PRO/GLN	277,4125	155.2+/-188.4	10,257,1934	122	102	109		836,836	4.5	0	11	dbSNP_120	109	1636,6956	302.2+/-305.8	165,1306,2825	yes	missense,missense	DNHD1	NM_144666.2,NM_173589.3	76,76	175,1563,4759	CC,CA,AA		19.041,6.2926,14.7222	benign,benign	279/4754,279/598	6524072	1913,11081	2201	4296	6497	SO:0001583	missense	144132	exon3			ATAGCCAGGTGAT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.836A>C	11.37:g.6524072A>C	ENSP00000436180:p.Gln279Pro	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	99	38	0.383838	NM_173589	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	224	0.10256410256410256	26	0.052845528455284556	46	0.1270718232044199	11	0.019230769230769232	141	0.18601583113456466	A	11.40	1.627054	0.28978	0.062926	0.19041	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27890	1.64;2.65;1.64	5.64	4.52	0.55395	.	0.540708	0.18166	N	0.149607	T	0.00039	0.0001	L	0.40543	1.245	0.80722	P	0.0	P;B	0.44578	0.838;0.004	B;B	0.41813	0.367;0.004	T	0.18178	-1.0345	9	0.28530	T	0.3	.	8.2343	0.31616	0.9095:0.0:0.0905:0.0	rs11605196;rs52824639;rs11605196	279;279	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	279	ENSP00000254579:Q279P;ENSP00000346716:Q279P;ENSP00000436180:Q279P	ENSP00000254579:Q279P	Q	+	2	0	DNHD1	6480648	0.000000	0.05858	0.019000	0.16419	0.032000	0.12392	0.115000	0.15540	0.971000	0.38288	0.460000	0.39030	CAG	A|0.862;C|0.138	0.138	strong		0.502	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6524072	A	C	6524072	3	2	22	1	0	0	0	0	1	0	0	0	4668	188	7	5	842	5	DNHD1	11	6524072	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21292	6524072	128482444	5983	11091										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6530138	6530138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgatggtggtgccacccGacaaggtgaatcccgagcac	13	13	0	2	rs2555152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6530138G>A	ENST00000527990.2	+	3	949	c.949G>A	c.(949-951)Gac>Aac	p.D317N	DNHD1_ENST00000254579.6_Missense_Mutation_p.D317N|DNHD1_ENST00000354685.3_Missense_Mutation_p.D317N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	317			D -> N (in dbSNP:rs2555152).		microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTGCCACCCGACAAGGTGAA	0.512													G|||	199	0.0397364	0.1452	0.0086	5008	,	,		19143	0.001		0.0	False		,,,				2504	0.0				p.D317N		Atlas-SNP	.											.	DNHD1	198	.	0			c.G949A						PASS	.	G	ASN/ASP,ASN/ASP	526,3876	241.2+/-251.7	39,448,1714	126	110	115		949,949	-1.4	0.3	11	dbSNP_100	115	6,8586	4.3+/-15.6	0,6,4290	yes	missense,missense	DNHD1	NM_144666.2,NM_173589.3	23,23	39,454,6004	AA,AG,GG		0.0698,11.9491,4.0942	benign,benign	317/4754,317/598	6530138	532,12462	2201	4296	6497	SO:0001583	missense	144132	exon4			CCACCCGACAAGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.949G>A	11.37:g.6530138G>A	ENSP00000436180:p.Asp317Asn	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	175	83	0.474286	NM_173589	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	63	0.028846153846153848	60	0.12195121951219512	3	0.008287292817679558	0	0.0	0	0.0	G	3.791	-0.043754	0.07452	0.119491	6.98E-4	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.13307	2.6;2.6;2.6	5.83	-1.38	0.09027	.	1.055320	0.07371	N	0.885883	T	0.00073	0.0002	N	0.04043	-0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44205	-0.9343	10	0.15499	T	0.54	.	1.9717	0.03407	0.4587:0.1254:0.2943:0.1216	rs2555152;rs56854107;rs2555152	317;317	Q96M86;Q96M86-4	DNHD1_HUMAN;.	N	317	ENSP00000254579:D317N;ENSP00000346716:D317N;ENSP00000436180:D317N	ENSP00000254579:D317N	D	+	1	0	DNHD1	6486714	0.000000	0.05858	0.341000	0.25589	0.889000	0.51656	-0.054000	0.11826	-0.108000	0.12066	-0.300000	0.09419	GAC	G|0.962;A|0.038	0.038	strong		0.512	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6530138	G	A	6530138	3	1	22	1	0	0	0	0	1	0	0	0	4668	1058	37	1	959	1	DNHD1	11	6530138	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6066	6530138	128476378	5984	11092										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6541225	6541225	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaccctttctctcatcaCagctggtctttgatgatcat	6	11	5	3	rs11603869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6541225C>G	ENST00000527990.2	+	7	1678	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q560E|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q560E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	560			Q -> E (in dbSNP:rs11603869).		microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTCTCATCACAGCTGGTCTT	0.488													C|||	714	0.142572	0.1233	0.1628	5008	,	,		20440	0.0327		0.1909	False		,,,				2504	0.2178				p.Q560E		Atlas-SNP	.											.	DNHD1	198	.	0			c.C1678G						PASS	.	C	GLU/GLN,GLU/GLN	545,3857	247.2+/-255.5	36,473,1692	161	149	153		1678,1678	3.6	0.2	11	dbSNP_120	153	1840,6752	328.8+/-318.4	201,1438,2657	yes	missense,missense	DNHD1	NM_144666.2,NM_173589.3	29,29	237,1911,4349	GG,GC,CC		21.4153,12.3807,18.3546	possibly-damaging,possibly-damaging	560/4754,560/598	6541225	2385,10609	2201	4296	6497	SO:0001583	missense	144132	exon8			TCATCACAGCTGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1678C>G	11.37:g.6541225C>G	ENSP00000436180:p.Gln560Glu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	114	53	0.464912	NM_173589	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	291	0.13324175824175824	65	0.13211382113821138	52	0.143646408839779	25	0.043706293706293704	149	0.19656992084432717	C	10.69	1.420306	0.25552	0.123807	0.214153	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.25579	1.79;2.79;1.79	5.7	3.63	0.41609	.	0.813344	0.10962	N	0.614855	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	B;B	0.32467	0.001;0.372	B;B	0.27796	0.002;0.083	T	0.13019	-1.0525	9	0.02654	T	1	.	9.8502	0.41053	0.1636:0.695:0.1414:0.0	rs11603869;rs11603869	560;560	Q96M86;Q96M86-4	DNHD1_HUMAN;.	E	560	ENSP00000254579:Q560E;ENSP00000346716:Q560E;ENSP00000436180:Q560E	ENSP00000254579:Q560E	Q	+	1	0	DNHD1	6497801	0.348000	0.24861	0.198000	0.23420	0.556000	0.35491	1.531000	0.36018	1.401000	0.46761	0.561000	0.74099	CAG	C|0.836;G|0.164	0.164	strong		0.488	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		G	6541225	C	G	6541225	3	3	22	1	0	0	0	0	1	0	0	0	4668	479	17	4	1704	4	DNHD1	11	6541225	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11087	6541225	128465291	5985	11093										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6549779	6549779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagaggaggactcaaaagAcgaatttctgatgcccaagt	11	7	2	4	rs4633449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6549779A>C	ENST00000527990.2	+	9	1865	c.1865A>C	c.(1864-1866)gAc>gCc	p.D622A	DNHD1_ENST00000254579.6_Missense_Mutation_p.D622A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	622					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTCAAAAGACGAATTTCTG	0.532													C|||	3656	0.730032	0.6944	0.6585	5008	,	,		19003	0.874		0.6302	False		,,,				2504	0.7832				p.D622A		Atlas-SNP	.											.	DNHD1	198	.	0			c.A1865C						PASS	.	C	ALA/ASP	954,430		326,302,64	94	85	88		1865	-2.8	0	11	dbSNP_111	88	2138,1044		723,692,176	yes	missense	DNHD1	NM_144666.2	126	1049,994,240	CC,CA,AA		32.8096,31.0694,32.2821	benign	622/4754	6549779	3092,1474	692	1591	2283	SO:0001583	missense	144132	exon11			CAAAAGACGAATT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1865A>C	11.37:g.6549779A>C	ENSP00000436180:p.Asp622Ala	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	1562	0.7152014652014652	353	0.717479674796748	236	0.6519337016574586	487	0.8513986013986014	486	0.6411609498680739	C	4.359	0.066121	0.08388	0.689306	0.671904	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.24151	1.87;1.87	4.47	-2.8	0.05823	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25257	-1.0137	8	0.07175	T	0.84	.	3.7229	0.08463	0.408:0.2437:0.0:0.3484	rs4633449;rs61259590;rs4633449	622	Q96M86	DNHD1_HUMAN	A	622	ENSP00000254579:D622A;ENSP00000436180:D622A	ENSP00000254579:D622A	D	+	2	0	DNHD1	6506355	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.220000	0.02971	-1.046000	0.03246	-0.217000	0.12591	GAC	A|0.272;C|0.728	0.728	strong		0.532	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6549779	A	C	6549779	3	2	22	1	0	0	0	0	1	0	0	0	4668	275	10	5	1908	5	DNHD1	11	6549779	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8554	6549779	128456737	5986	11094										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6549995	6549995	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagatccagcaggcactgaAtatacaacaggtgctgctgg					rs7480644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6549995A>G	ENST00000527990.2	+	9	2081	c.2081A>G	c.(2080-2082)aAt>aGt	p.N694S	DNHD1_ENST00000254579.6_Missense_Mutation_p.N694S			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	694					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGGCACTGAATATACAACAG	0.537													A|||	3633	0.725439	0.6831	0.6571	5008	,	,		20488	0.87		0.6302	False		,,,				2504	0.7802				p.N694S		Atlas-SNP	.											DNHD1,colon,carcinoma,0,1	DNHD1	198	1	0			c.A2081G						PASS	.	A	SER/ASN	937,447		321,295,76	55	47	49		2081	-0.9	0	11	dbSNP_116	49	2141,1041		726,689,176	yes	missense	DNHD1	NM_144666.2	46	1047,984,252	GG,GA,AA		32.7153,32.2977,32.5887	benign	694/4754	6549995	3078,1488	692	1591	2283	SO:0001583	missense	144132	exon11			CACTGAATATACA	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2081A>G	11.37:g.6549995A>G	ENSP00000436180:p.Asn694Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	66	31	0.469697	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	1547	0.7083333333333334	342	0.6951219512195121	235	0.649171270718232	484	0.8461538461538461	486	0.6411609498680739	A	2.474	-0.321286	0.05386	0.677023	0.672847	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.26223	1.75;1.75	5.6	-0.949	0.10376	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.14012	0.009	B	0.10450	0.005	T	0.27739	-1.0065	8	0.09338	T	0.73	.	1.8355	0.03139	0.4088:0.3113:0.1243:0.1556	rs7480644;rs58671974;rs7480644	694	Q96M86	DNHD1_HUMAN	S	694	ENSP00000254579:N694S;ENSP00000436180:N694S	ENSP00000254579:N694S	N	+	2	0	DNHD1	6506571	0.001000	0.12720	0.006000	0.13384	0.022000	0.10575	-0.181000	0.09740	-0.478000	0.06823	-1.017000	0.02453	AAT	A|0.284;G|0.716	0.716	strong		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		G	6549995	A	G	6549995	3	3	22	1	0	0	0	0	1	0	0	0	4668	101	4	2	2124	2	DNHD1	11	6549995	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	216	6549995	128456521	5987	11095	226	2								
DNHD1	144132	hgsc.bcm.edu	37	chr11	6550004	6550004	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggcactgaatatacaacAggtgctgctggaggtgagaa					rs2344828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6550004A>G	ENST00000527990.2	+	9	2090	c.2090A>G	c.(2089-2091)cAg>cGg	p.Q697R	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q697R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	697					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATATACAACAGGTGCTGCTG	0.537													A|||	3656	0.730032	0.6944	0.6585	5008	,	,		20172	0.874		0.6302	False		,,,				2504	0.7832				p.Q697R		Atlas-SNP	.											DNHD1,colon,carcinoma,0,1	DNHD1	198	1	0			c.A2090G						PASS	.	A	ARG/GLN	955,429		327,301,64	54	45	48		2090	4.5	0	11	dbSNP_100	48	2141,1041		726,689,176	yes	missense	DNHD1	NM_144666.2	43	1053,990,240	GG,GA,AA		32.7153,30.9971,32.1945	possibly-damaging	697/4754	6550004	3096,1470	692	1591	2283	SO:0001583	missense	144132	exon11			TACAACAGGTGCT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2090A>G	11.37:g.6550004A>G	ENSP00000436180:p.Gln697Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	31	0.449275	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	1562	0.7152014652014652	353	0.717479674796748	236	0.6519337016574586	487	0.8513986013986014	486	0.6411609498680739	A	5.599	0.295334	0.10622	0.690029	0.672847	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.27104	1.69;1.69	5.6	4.48	0.54585	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.20052	0.041	B	0.21917	0.037	T	0.12708	-1.0537	8	0.24483	T	0.36	.	8.4785	0.33027	0.9121:0.0:0.0879:0.0	rs2344828;rs52806435;rs58180413;rs2344828	697	Q96M86	DNHD1_HUMAN	R	697	ENSP00000254579:Q697R;ENSP00000436180:Q697R	ENSP00000254579:Q697R	Q	+	2	0	DNHD1	6506580	0.741000	0.28217	0.007000	0.13788	0.001000	0.01503	1.937000	0.40193	0.951000	0.37770	-0.280000	0.10049	CAG	A|0.275;G|0.725	0.725	strong		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		G	6550004	A	G	6550004	3	3	22	1	0	0	0	0	1	0	0	0	4668	188	7	3	2133	3	DNHD1	11	6550004	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9	6550004	128456512	5988	11096	226	2								
DNHD1	144132	hgsc.bcm.edu	37	chr11	6550309	6550309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgagttgctcacaaaaggcGggttgctgctacttagctgc	12	10	1	0	rs2344829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6550309G>A	ENST00000527990.2	+	10	2305	c.2305G>A	c.(2305-2307)Ggg>Agg	p.G769R	DNHD1_ENST00000254579.6_Missense_Mutation_p.G769R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	769					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAAAAGGCGGGTTGCTGCT	0.527													A|||	3582	0.715256	0.6422	0.6527	5008	,	,		20739	0.874		0.6292	False		,,,				2504	0.7832				p.G769R		Atlas-SNP	.											.	DNHD1	198	.	0			c.G2305A						PASS	.	A	ARG/GLY	894,490		284,326,82	142	136	138		2305	3	1	11	dbSNP_100	138	2137,1045		722,693,176	yes	missense	DNHD1	NM_144666.2	125	1006,1019,258	AA,AG,GG		32.841,35.4046,33.618	benign	769/4754	6550309	3031,1535	692	1591	2283	SO:0001583	missense	144132	exon12			AAAGGCGGGTTGC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2305G>A	11.37:g.6550309G>A	ENSP00000436180:p.Gly769Arg	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	132	67	0.507576	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	1538	0.7042124542124543	330	0.6707317073170732	235	0.649171270718232	487	0.8513986013986014	486	0.6411609498680739	A	5.682	0.310322	0.10733	0.645954	0.67159	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.25579	1.79;1.79	5.54	3.02	0.34903	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16364	-1.0405	8	0.27082	T	0.32	.	6.0678	0.19873	0.6721:0.2398:0.0882:0.0	rs2344829;rs52815182;rs58903745;rs2344829	769	Q96M86	DNHD1_HUMAN	R	769;769;35	ENSP00000254579:G769R;ENSP00000436180:G769R	ENSP00000254579:G769R	G	+	1	0	DNHD1	6506885	0.799000	0.28903	0.992000	0.48379	0.938000	0.57974	1.170000	0.31883	0.928000	0.37168	-0.269000	0.10298	GGG	G|0.292;A|0.708	0.708	strong		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6550309	G	A	6550309	3	1	22	1	0	0	0	0	1	0	0	0	4668	1116	39	1	2352	1	DNHD1	11	6550309	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	305	6550309	128456207	5989	11097										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6569896	6569896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaacggctcttgtatgtgGtggacctgcttctgtcaggg	14	9	3	1	rs11606889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6569896G>A	ENST00000527990.2	+	22	7120	c.7120G>A	c.(7120-7122)Gtg>Atg	p.V2374M	DNHD1_ENST00000254579.6_Missense_Mutation_p.V2374M			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2374					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGTATGTGGTGGACCTGCT	0.522													G|||	636	0.126997	0.0832	0.1729	5008	,	,		19672	0.0228		0.1829	False		,,,				2504	0.2035				p.V2374M		Atlas-SNP	.											.	DNHD1	198	.	0			c.G7120A						PASS	.	G	MET/VAL	136,1248		8,120,564	59	52	54		7120	4.9	1	11	dbSNP_120	54	619,2563		51,517,1023	yes	missense	DNHD1	NM_144666.2	21	59,637,1587	AA,AG,GG		19.4532,9.8266,16.5353	probably-damaging	2374/4754	6569896	755,3811	692	1591	2283	SO:0001583	missense	144132	exon24			TATGTGGTGGACC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7120G>A	11.37:g.6569896G>A	ENSP00000436180:p.Val2374Met	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	253	0.11584249084249085	47	0.09552845528455285	50	0.13812154696132597	18	0.03146853146853147	138	0.1820580474934037	G	15.97	2.988476	0.53934	0.098266	0.194532	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.29397	1.57;1.57	5.96	4.95	0.65309	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.39708	P	0.028714000000000017	D	0.63046	0.992	P	0.58077	0.832	T	0.06006	-1.0851	8	0.22706	T	0.39	.	9.6269	0.39757	0.1245:0.0:0.8755:0.0	rs11606889;rs58131910;rs11606889	2374	Q96M86	DNHD1_HUMAN	M	2374	ENSP00000254579:V2374M;ENSP00000436180:V2374M	ENSP00000254579:V2374M	V	+	1	0	DNHD1	6526472	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.820000	0.39032	2.813000	0.96785	0.655000	0.94253	GTG	G|0.887;A|0.113	0.113	strong		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6569896	G	A	6569896	3	1	22	1	0	0	0	0	1	0	0	0	4668	1261	44	2	7215	2	DNHD1	11	6569896	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19587	6569896	128436620	5990	11098										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6579354	6579354	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagccagccagtggctctGttggtacccagtggtgtgga	14	9	1	0	rs16915382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6579354G>C	ENST00000527990.2	+	23	8829	c.8829G>C	c.(8827-8829)ctG>ctC	p.L2943L	DNHD1_ENST00000254579.6_Silent_p.L2943L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2943					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGTGGCTCTGTTGGTACCCA	0.547													G|||	1144	0.228435	0.5545	0.1599	5008	,	,		18259	0.0159		0.0994	False		,,,				2504	0.1881				p.L2943L		Atlas-SNP	.											.	DNHD1	198	.	0			c.G8829C						PASS	.	G		719,665		187,345,160	76	66	69		8829	0	0.1	11	dbSNP_123	69	420,2762		30,360,1201	no	coding-synonymous	DNHD1	NM_144666.2		217,705,1361	CC,CG,GG		13.1992,48.0491,24.9452		2943/4754	6579354	1139,3427	692	1591	2283	SO:0001819	synonymous_variant	144132	exon25			GGCTCTGTTGGTA	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8829G>C	11.37:g.6579354G>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	129	65	0.503876	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			G|0.805;C|0.195	0.195	strong		0.547	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6579354	G	C	6579354	2	2	22	1	0	0	0	0	0	0	0	1	4668	1364	48	4		4	DNHD1	11	6579354	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9458	6579354	128427162	5991	11099										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6585670	6585670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcgccaagagctactggaCgagtggttagctctgtgtag	15	9	1	1	rs16915423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6585670C>T	ENST00000527990.2	+	30	10392	c.10392C>T	c.(10390-10392)gaC>gaT	p.D3464D	DNHD1_ENST00000254579.6_Silent_p.D3464D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3464					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTACTGGACGAGTGGTTAG	0.552													C|||	600	0.119808	0.295	0.0922	5008	,	,		21225	0.0149		0.0169	False		,,,				2504	0.1166				p.D3464D		Atlas-SNP	.											.	DNHD1	198	.	0			c.C10392T						PASS	.	C		356,1028		43,270,379	115	110	112		10392	-1.9	0.9	11	dbSNP_123	112	81,3101		0,81,1510	no	coding-synonymous	DNHD1	NM_144666.2		43,351,1889	TT,TC,CC		2.5456,25.7225,9.5707		3464/4754	6585670	437,4129	692	1591	2283	SO:0001819	synonymous_variant	144132	exon32			ACTGGACGAGTGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10392C>T	11.37:g.6585670C>T		Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	215	110	0.511628	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			C|0.905;T|0.095	0.095	strong		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6585670	C	T	6585670	2	4	22	1	0	0	0	0	0	0	0	1	4668	535	19	1		1	DNHD1	11	6585670	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6316	6585670	128420846	5992	11100										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6585838	6585838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagctctgaatcggagcaGtaccagtgggatggaaacct	13	9	1	2	rs11825255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6585838G>A	ENST00000527990.2	+	30	10560	c.10560G>A	c.(10558-10560)caG>caA	p.Q3520Q	DNHD1_ENST00000254579.6_Silent_p.Q3520Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3520					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATCGGAGCAGTACCAGTGGG	0.552													G|||	991	0.197883	0.5484	0.1254	5008	,	,		19760	0.0149		0.0417	False		,,,				2504	0.1247				p.Q3520Q		Atlas-SNP	.											.	DNHD1	198	.	0			c.G10560A						PASS	.	G		681,703		168,345,179	124	119	120		10560	4.7	0.9	11	dbSNP_120	120	153,3029		3,147,1441	no	coding-synonymous	DNHD1	NM_144666.2		171,492,1620	AA,AG,GG		4.8083,49.2052,18.2654		3520/4754	6585838	834,3732	692	1591	2283	SO:0001819	synonymous_variant	144132	exon32			GGAGCAGTACCAG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10560G>A	11.37:g.6585838G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			G|0.816;A|0.184	0.184	strong		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6585838	G	A	6585838	2	1	22	1	0	0	0	0	0	0	0	1	4668	1020	36	2		2	DNHD1	11	6585838	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	6585838	128420678	5993	11101										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6588553	6588553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttggtgggtgcattgggCgctttggctctgctgcaagc	15	11	1	0	rs56313830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6588553C>T	ENST00000527990.2	+	34	11814	c.11814C>T	c.(11812-11814)ggC>ggT	p.G3938G	DNHD1_ENST00000254579.6_Silent_p.G3938G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3938					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCATTGGGCGCTTTGGCTC	0.597													C|||	967	0.193091	0.531	0.1239	5008	,	,		21235	0.0149		0.0417	False		,,,				2504	0.1247				p.G3938G		Atlas-SNP	.											.	DNHD1	198	.	0			c.C11814T						PASS	.	C		1869,2321		424,1021,650	54	62	59		11814	0.7	1	11	dbSNP_129	59	384,8054		6,372,3841	no	coding-synonymous	DNHD1	NM_144666.2		430,1393,4491	TT,TC,CC		4.5508,44.6062,17.8413		3938/4754	6588553	2253,10375	2095	4219	6314	SO:0001819	synonymous_variant	144132	exon36			ATTGGGCGCTTTG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11814C>T	11.37:g.6588553C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	85	49	0.576471	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			C|0.870;T|0.130	0.130	strong		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6588553	C	T	6588553	2	4	22	1	0	0	0	0	0	0	0	1	4668	755	27	1		1	DNHD1	11	6588553	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2715	6588553	128417963	5994	11102										
ILK	3611	hgsc.bcm.edu	37	chr11	6629665	6629665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaatgcagtgaatgaacaCgggaatgtgcccctgcacta	10	10	1	2	rs1043388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6629665C>T	ENST00000396751.2	+	3	753	c.297C>T	c.(295-297)caC>caT	p.H99H	ILK_ENST00000528995.1_Silent_p.H99H|ILK_ENST00000537806.1_5'UTR|TAF10_ENST00000531760.1_5'Flank|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Silent_p.H99H|ILK_ENST00000420936.2_Silent_p.H99H	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	99	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGAATGAACACGGGAATGTGC	0.483													T|||	1576	0.314696	0.4153	0.2608	5008	,	,		24191	0.3512		0.2535	False		,,,				2504	0.2423				p.H99H		Atlas-SNP	.											.	ILK	41	.	0			c.C297T						PASS	.	T	,,	1685,2717	654.2+/-399.7	315,1055,831	138	118	124		297,297,297	2.4	1	11	dbSNP_86	124	2148,6444	713.9+/-406.0	260,1628,2408	no	coding-synonymous,coding-synonymous,coding-synonymous	ILK	NM_001014794.1,NM_001014795.1,NM_004517.2	,,	575,2683,3239	TT,TC,CC		25.0,38.2781,29.4982	,,	99/453,99/453,99/453	6629665	3833,9161	2201	4296	6497	SO:0001819	synonymous_variant	3611	exon4			TGAACACGGGAAT	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.297C>T	11.37:g.6629665C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	168	85	0.505952	NM_001014794	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	ENST00000396751.2	37	CCDS7768.1																																																																																			C|0.690;T|0.310	0.310	strong		0.483	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		T	6629665	C	T	6629665	2	4	22	1	0	0	0	0	0	0	0	1	7713	535	19	1		1	ILK	11	6629665	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41112	6629665	128376851	5995	11103										
ILK	3611	hgsc.bcm.edu	37	chr11	6630833	6630833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatcacacactggatgccGtatggatccctctacaatgt	7	13	3	0	rs1043390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6630833G>A	ENST00000396751.2	+	8	1275	c.819G>A	c.(817-819)ccG>ccA	p.P273P	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Silent_p.P139P|ILK_ENST00000420936.2_Silent_p.P273P|ILK_ENST00000528995.1_Silent_p.P212P|ILK_ENST00000299421.4_Silent_p.P273P|ILK_ENST00000526711.1_3'UTR	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ACTGGATGCCGTATGGATCCC	0.507													A|||	1740	0.347444	0.5303	0.2651	5008	,	,		22842	0.3492		0.2555	False		,,,				2504	0.2515				p.P273P		Atlas-SNP	.											.	ILK	41	.	0			c.G819A						PASS	.	A	,,	2088,2314	603.5+/-390.1	482,1124,595	156	141	146		819,819,819	4.4	1	11	dbSNP_86	146	2160,6432	713.4+/-405.9	265,1630,2401	no	coding-synonymous,coding-synonymous,coding-synonymous	ILK	NM_001014794.1,NM_001014795.1,NM_004517.2	,,	747,2754,2996	AA,AG,GG		25.1397,47.433,32.692	,,	273/453,273/453,273/453	6630833	4248,8746	2201	4296	6497	SO:0001819	synonymous_variant	3611	exon9			GATGCCGTATGGA	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.819G>A	11.37:g.6630833G>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	255	117	0.458824	NM_001014794	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	ENST00000396751.2	37	CCDS7768.1																																																																																			G|0.669;A|0.331	0.331	strong		0.507	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		A	6630833	G	A	6630833	2	1	22	1	0	0	0	0	0	0	0	1	7713	1132	40	1		1	ILK	11	6630833	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1168	6630833	128375683	5996	11104										
OR10A2	341276	hgsc.bcm.edu	37	chr11	6891704	6891704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgtctctcttttctataTatcattaagcctcacctact	3	11	5	0	rs10839632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6891704T>C	ENST00000307322.4	+	1	781	c.719T>C	c.(718-720)aTa>aCa	p.I240T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	240			I -> T (in dbSNP:rs10839632).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTTTCTATATATCATTAAGC	0.428													-|||	1557	0.310903	0.205	0.2882	5008	,	,		23908	0.4067		0.325	False		,,,				2504	0.3569				p.I240T		Atlas-SNP	.											.	OR10A2	55	.	0			c.T719C						PASS	.	T	THR/ILE	1041,3361	382.8+/-324.6	133,775,1293	217	196	203		719	1.6	1	11	dbSNP_120	203	2448,6144	403.4+/-347.8	363,1722,2211	yes	missense	OR10A2	NM_001004460.1	89	496,2497,3504	CC,CT,TT		28.4916,23.6483,26.8509	benign	240/304	6891704	3489,9505	2201	4296	6497	SO:0001583	missense	341276	exon1			TCTATATATCATT	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.719T>C	11.37:g.6891704T>C	ENSP00000303862:p.Ile240Thr	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	176	96	0.545455	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	653	0.298992673992674	95	0.19308943089430894	102	0.281767955801105	206	0.36013986013986016	250	0.32981530343007914	t	3.738	-0.054205	0.07362	0.236483	0.284916	ENSG00000170790	ENST00000307322	T	0.37915	1.17	4.18	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.240340	0.28606	N	0.014748	T	0.00012	0.0000	N	0.04373	-0.215	0.54753	P	2.0000000000020002E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.42327	-0.9458	9	0.87932	D	0	.	9.3933	0.38386	0.0:0.0:0.3374:0.6626	rs10839632;rs52827835;rs58894419;rs10839632	240	Q9H208	O10A2_HUMAN	T	240	ENSP00000303862:I240T	ENSP00000303862:I240T	I	+	2	0	OR10A2	6848280	0.000000	0.05858	0.986000	0.45419	0.121000	0.20230	0.050000	0.14120	0.754000	0.32968	-0.323000	0.08544	ATA	T|0.723;C|0.277	0.277	strong		0.428	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		C	6891704	T	C	6891704	3	2	22	1	0	0	0	0	1	0	0	0	10890	1406	49	2	721	2	OR10A2	11	6891704	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	260871	6891704	128114812	5997	11105										
OR10A4	283297	hgsc.bcm.edu	37	chr11	6898663	6898663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccatcctcacgtatttccGaccccaatccagtgcctctt	5	17	2	0	rs10839635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6898663G>A	ENST00000379829.2	+	1	808	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	262			R -> Q (in dbSNP:rs10839635). {ECO:0000269|PubMed:15489334}.		axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGTATTTCCGACCCCAATCC	0.522													G|||	1548	0.309105	0.2042	0.2882	5008	,	,		19605	0.3988		0.325	False		,,,				2504	0.3569				p.R262Q		Atlas-SNP	.											OR10A4,NS,carcinoma,-1,1	OR10A4	65	1	0			c.G785A						PASS	.		GLN/ARG	1040,3362	382.5+/-324.5	134,772,1295	171	140	150		785	4	0.9	11	dbSNP_120	150	2442,6150	402.8+/-347.6	362,1718,2216	yes	missense	OR10A4	NM_207186.2	43	496,2490,3511	AA,AG,GG		28.4218,23.6256,26.797	possibly-damaging	262/316	6898663	3482,9512	2201	4296	6497	SO:0001583	missense	283297	exon1			ATTTCCGACCCCA	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.785G>A	11.37:g.6898663G>A	ENSP00000369157:p.Arg262Gln	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	73	28	0.383562	NM_207186	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	CCDS7774.1	649	0.29716117216117216	95	0.19308943089430894	102	0.281767955801105	202	0.3531468531468531	250	0.32981530343007914	g	9.692	1.152108	0.21371	0.236256	0.284218	ENSG00000170782	ENST00000379829	T	0.37235	1.21	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37530	N	0.002055	T	0.00012	0.0000	N	0.20357	0.565	0.39828	P	0.027078999999999964	P	0.48230	0.907	P	0.49953	0.627	T	0.35674	-0.9779	9	0.15952	T	0.53	.	7.8776	0.29603	0.1097:0.0:0.8903:0.0	rs10839635;rs52822008;rs60284173;rs10839635	262	Q9H209	O10A4_HUMAN	Q	262	ENSP00000369157:R262Q	ENSP00000369157:R262Q	R	+	2	0	OR10A4	6855239	0.001000	0.12720	0.916000	0.36221	0.131000	0.20780	0.803000	0.27083	2.554000	0.86153	0.651000	0.88453	CGA	G|0.724;A|0.276	0.276	strong		0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		A	6898663	G	A	6898663	3	1	22	1	0	0	0	0	1	0	0	0	10892	1058	37	1	787	1	OR10A4	11	6898663	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6959	6898663	128107853	5998	11106										
OR2D3	120775	hgsc.bcm.edu	37	chr11	6942628	6942628	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagtgtgcgctgctggcAgtgatgtcctatgaccggta	14	9	0	3	rs11605995	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6942628A>C	ENST00000317834.3	+	1	424	c.396A>C	c.(394-396)gcA>gcC	p.A132A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	132						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGCTGCTGGCAGTGATGTCCT	0.483													C|||	2040	0.407348	0.6241	0.3329	5008	,	,		19923	0.4464		0.1948	False		,,,				2504	0.3456				p.A132A		Atlas-SNP	.											.	OR2D3	51	.	0			c.A396C						PASS	.	C		2479,1923	547.5+/-377.3	692,1095,414	165	155	158		396	-10.1	0	11	dbSNP_120	158	1701,6891	738.4+/-407.1	172,1357,2767	no	coding-synonymous	OR2D3	NM_001004684.1		864,2452,3181	CC,CA,AA		19.7975,43.6847,32.1687		132/331	6942628	4180,8814	2201	4296	6497	SO:0001819	synonymous_variant	120775	exon1			GCTGGCAGTGATG	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.396A>C	11.37:g.6942628A>C		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	266	125	0.469925	NM_001004684	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																			A|0.655;C|0.345	0.345	strong		0.483	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		C	6942628	A	C	6942628	2	2	22	1	0	0	0	0	0	0	0	1	10995	175	7	5		5	OR2D3	11	6942628	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43965	6942628	128063888	5999	11107										
OR2D3	120775	hgsc.bcm.edu	37	chr11	6942695	6942695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctaccatcatgacacaaCgggtgtgtctctggctgtcc	9	13	3	1	rs12806437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6942695C>T	ENST00000317834.3	+	1	491	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	155			R -> W (in dbSNP:rs12806437). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R155W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATGACACAACGGGTGTGTCT	0.532													C|||	856	0.170927	0.0408	0.17	5008	,	,		19587	0.2143		0.1581	False		,,,				2504	0.316				p.R155W		Atlas-SNP	.											OR2D3,NS,carcinoma,0,1	OR2D3	51	1	1	Substitution - Missense(1)	stomach(1)	c.C463T						PASS	.	C	TRP/ARG	306,4096	165.8+/-197.2	5,296,1900	141	122	129		463	-3	0	11	dbSNP_121	129	1532,7060	290.5+/-299.9	130,1272,2894	yes	missense	OR2D3	NM_001004684.1	101	135,1568,4794	TT,TC,CC		17.8305,6.9514,14.145	benign	155/331	6942695	1838,11156	2201	4296	6497	SO:0001583	missense	120775	exon1			ACACAACGGGTGT	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.463C>T	11.37:g.6942695C>T	ENSP00000320560:p.Arg155Trp	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	335	168	0.501493	NM_001004684	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	321	0.14697802197802198	22	0.044715447154471545	59	0.16298342541436464	115	0.20104895104895104	125	0.16490765171503957	C	3.804	-0.041195	0.07452	0.069514	0.178305	ENSG00000178358	ENST00000317834	T	0.00949	5.51	5.17	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	2.457810	0.02011	N	0.047015	T	0.00012	0.0000	L	0.56280	1.765	0.80722	P	0.0	B	0.26845	0.161	B	0.24269	0.052	T	0.44590	-0.9318	9	0.36615	T	0.2	-0.698	4.0012	0.09580	0.3231:0.2905:0.0:0.3864	rs12806437;rs52811082;rs59333628;rs12806437	155	Q8NGH3	OR2D3_HUMAN	W	155	ENSP00000320560:R155W	ENSP00000320560:R155W	R	+	1	2	OR2D3	6899271	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.952000	0.03881	-0.292000	0.08999	0.655000	0.94253	CGG	C|0.859;T|0.141	0.141	strong		0.532	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		T	6942695	C	T	6942695	3	4	22	1	0	0	0	0	1	0	0	0	10995	527	19	1	465	1	OR2D3	11	6942695	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67	6942695	128063821	6000	11108										
OR2D3	120775	hgsc.bcm.edu	37	chr11	6942952	6942952	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattggaatattatctccacTgttatccagatgcagtctgg	8	8	2	1	rs2035844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:6942952T>C	ENST00000317834.3	+	1	748	c.720T>C	c.(718-720)acT>acC	p.T240T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	240						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTATCTCCACTGTTATCCAGA	0.463													T|||	2040	0.407348	0.6241	0.3329	5008	,	,		20687	0.4464		0.1948	False		,,,				2504	0.3456				p.T240T		Atlas-SNP	.											.	OR2D3	51	.	0			c.T720C						PASS	.	T		2479,1923	626.0+/-394.6	692,1095,414	110	98	102		720	-0.1	1	11	dbSNP_94	102	1701,6891	310.0+/-309.6	172,1357,2767	no	coding-synonymous	OR2D3	NM_001004684.1		864,2452,3181	CC,CT,TT		19.7975,43.6847,32.1687		240/331	6942952	4180,8814	2201	4296	6497	SO:0001819	synonymous_variant	120775	exon1			CTCCACTGTTATC	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.720T>C	11.37:g.6942952T>C		Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	319	151	0.473354	NM_001004684	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																			T|0.667;C|0.333	0.333	strong		0.463	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		C	6942952	T	C	6942952	2	2	22	1	0	0	0	0	0	0	0	1	10995	1567	55	3		3	OR2D3	11	6942952	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	257	6942952	128063564	6001	11109										
NLRP14	338323	hgsc.bcm.edu	37	chr11	7060092	7060092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatctgtgtgagagagcgaAagaagagatcaactgtgagt	15	4	2	5	rs16921697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7060092A>G	ENST00000299481.4	+	2	621	c.275A>G	c.(274-276)aAa>aGa	p.K92R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	92	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		K -> R (in dbSNP:rs16921697). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.K92R(1)|p.K92E(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGAGCGAAAGAAGAGATC	0.463													A|||	408	0.0814696	0.0038	0.0533	5008	,	,		19978	0.2133		0.0258	False		,,,				2504	0.1278				p.K92R		Atlas-SNP	.											NLRP14_ENST00000299481,NS,carcinoma,0,2	NLRP14	187	2	2	Substitution - Missense(2)	stomach(2)	c.A275G						PASS	.	A	ARG/LYS	37,4365	39.2+/-71.8	0,37,2164	56	60	59		275	1.7	0.9	11	dbSNP_123	59	283,8309	101.6+/-162.9	2,279,4015	yes	missense	NLRP14	NM_176822.3	26	2,316,6179	GG,GA,AA		3.2938,0.8405,2.4627	possibly-damaging	92/1094	7060092	320,12674	2201	4296	6497	SO:0001583	missense	338323	exon2			GAGCGAAAGAAGA	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.275A>G	11.37:g.7060092A>G	ENSP00000299481:p.Lys92Arg	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	53	29	0.54717	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	176	0.08058608058608059	2	0.0040650406504065045	19	0.052486187845303865	133	0.23251748251748253	22	0.029023746701846966	A	6.877	0.531182	0.13127	0.008405	0.032938	ENSG00000158077	ENST00000299481	T	0.47177	0.85	4.08	1.71	0.24356	Pyrin (2);DEATH-like (2);	0.368276	0.23644	N	0.045991	T	0.00012	0.0000	L	0.37750	1.13	0.43377	P	0.004530000000000034	B	0.26672	0.156	B	0.30105	0.111	T	0.16689	-1.0394	9	0.06891	T	0.86	.	4.1081	0.10047	0.6793:0.2112:0.1095:0.0	rs16921697;rs52822095;rs16921697	92	Q86W24	NAL14_HUMAN	R	92	ENSP00000299481:K92R	ENSP00000299481:K92R	K	+	2	0	NLRP14	7016668	0.388000	0.25197	0.937000	0.37676	0.737000	0.42083	-0.064000	0.11636	0.358000	0.24211	0.533000	0.62120	AAA	A|0.957;G|0.043	0.043	strong		0.463	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		G	7060092	A	G	7060092	3	3	22	1	0	0	0	0	1	0	0	0	10476	14	1	2	277	2	NLRP14	11	7060092	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	117140	7060092	127946424	6002	11110										
NLRP14	338323	hgsc.bcm.edu	37	chr11	7064271	7064271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgcaagagaggagtaTatttaccagttttttgaaga	12	3	0	3	rs116753166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7064271T>C	ENST00000299481.4	+	4	1360	c.1014T>C	c.(1012-1014)taT>taC	p.Y338Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	338	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGGAGTATATTTACCAGT	0.398													T|||	87	0.0173722	0.0613	0.0072	5008	,	,		22160	0.0		0.001	False		,,,				2504	0.0				p.Y338Y		Atlas-SNP	.											.	NLRP14	187	.	0			c.T1014C						PASS	.	T		260,4142	146.9+/-181.5	14,232,1955	100	105	103		1014	2.2	0.4	11	dbSNP_132	103	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	NLRP14	NM_176822.3		14,233,6250	CC,CT,TT		0.0116,5.9064,2.0086		338/1094	7064271	261,12733	2201	4296	6497	SO:0001819	synonymous_variant	338323	exon4			GGAGTATATTTAC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1014T>C	11.37:g.7064271T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	166	82	0.493976	NM_176822	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																			T|0.983;C|0.017	0.017	strong		0.398	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7064271	T	C	7064271	2	2	22	1	0	0	0	0	0	0	0	1	10476	1413	49	2		2	NLRP14	11	7064271	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4179	7064271	127942245	6003	11111										
NLRP14	338323	hgsc.bcm.edu	37	chr11	7064457	7064457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacaaccacagctctgttTacctgctatatttctagctt	4	12	2	0	rs76429148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7064457T>C	ENST00000299481.4	+	4	1546	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	400	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGCTCTGTTTACCTGCTATA	0.512													T|||	276	0.0551118	0.1483	0.0389	5008	,	,		20476	0.0		0.0249	False		,,,				2504	0.0286				p.F400F		Atlas-SNP	.											.	NLRP14	187	.	0			c.T1200C						PASS	.	T		620,3782	268.9+/-268.7	58,504,1639	150	144	146		1200	-0.5	0	11	dbSNP_132	146	315,8277	112.1+/-172.3	5,305,3986	no	coding-synonymous	NLRP14	NM_176822.3		63,809,5625	CC,CT,TT		3.6662,14.0845,7.1956		400/1094	7064457	935,12059	2201	4296	6497	SO:0001819	synonymous_variant	338323	exon4			TCTGTTTACCTGC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1200T>C	11.37:g.7064457T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	147	65	0.442177	NM_176822	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																			T|0.938;C|0.062	0.062	strong		0.512	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7064457	T	C	7064457	2	2	22	1	0	0	0	0	0	0	0	1	10476	1751	61	2		2	NLRP14	11	7064457	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	186	7064457	127942059	6004	11112										
PPFIBP2	8495	hgsc.bcm.edu	37	chr11	7662732	7662732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacagaaagtggctgggaCgacactgctgtggtcaatga	14	8	1	2	rs4643071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7662732C>T	ENST00000299492.4	+	16	1786	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	PPFIBP2_ENST00000533792.1_Silent_p.D308D|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.D354D|PPFIBP2_ENST00000530181.1_Silent_p.D323D	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	466					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGGCTGGGACGACACTGCTG	0.527													T|||	3338	0.666534	0.7905	0.6182	5008	,	,		17093	0.5813		0.6431	False		,,,				2504	0.6452				p.D466D		Atlas-SNP	.											PPFIBP2,NS,carcinoma,+1,1	PPFIBP2	87	1	0			c.C1398T						PASS	.	T		3471,931	354.6+/-312.7	1360,751,90	123	107	112		1398	-1	0.8	11	dbSNP_111	112	5725,2867	450.1+/-362.3	1916,1893,487	no	coding-synonymous	PPFIBP2	NM_003621.2		3276,2644,577	TT,TC,CC		33.3682,21.1495,29.2289		466/877	7662732	9196,3798	2201	4296	6497	SO:0001819	synonymous_variant	8495	exon16			CTGGGACGACACT	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1398C>T	11.37:g.7662732C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	129	74	0.573643	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	CCDS31419.1	1468	0.6721611721611722	389	0.790650406504065	229	0.6325966850828729	357	0.6241258741258742	493	0.6503957783641161	T	0.184	-1.059576	0.01950	0.788505	0.666318	ENSG00000166387	ENST00000534409	.	.	.	5.93	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.27699	P	0.9458467	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4907	6.3408	0.21322	0.1535:0.4429:0.0:0.4036	rs4643071;rs17851926;rs58264303;rs4643071	.	.	.	X	157	.	.	R	+	1	2	PPFIBP2	7619308	0.093000	0.21703	0.812000	0.32479	0.138000	0.21146	-0.815000	0.04481	-0.495000	0.06659	-0.972000	0.02603	CGA	C|0.307;T|0.693	0.693	strong		0.527	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		T	7662732	C	T	7662732	2	4	22	1	0	0	0	0	0	0	0	1	12314	535	19	1		1	PPFIBP2	11	7662732	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	598275	7662732	127343784	6005	11113										
PPFIBP2	8495	hgsc.bcm.edu	37	chr11	7673015	7673015	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccggaggctgaacaggaGaagcgagagaaaatggcctc	16	8	0	3	rs5864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7673015G>A	ENST00000299492.4	+	23	2764	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	PPFIBP2_ENST00000533792.1_Silent_p.E634E|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.E680E|PPFIBP2_ENST00000530181.1_Silent_p.E649E	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	792					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGAACAGGAGAAGCGAGAGA	0.582													A|||	3308	0.660543	0.7466	0.6138	5008	,	,		19890	0.6012		0.6392	False		,,,				2504	0.6605				p.E792E		Atlas-SNP	.											PPFIBP2,NS,carcinoma,+2,1	PPFIBP2	87	1	0			c.G2376A						PASS	.	A		3235,1167	410.6+/-335.4	1170,895,136	133	127	129		2376	2.2	1	11	dbSNP_52	129	5730,2862	449.3+/-362.1	1925,1880,491	no	coding-synonymous	PPFIBP2	NM_003621.2		3095,2775,627	AA,AG,GG		33.3101,26.5107,31.0066		792/877	7673015	8965,4029	2201	4296	6497	SO:0001819	synonymous_variant	8495	exon23			ACAGGAGAAGCGA	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2376G>A	11.37:g.7673015G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	64	20	0.3125	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	CCDS31419.1	1444	0.6611721611721612	368	0.7479674796747967	227	0.6270718232044199	359	0.6276223776223776	490	0.6464379947229552	A	8.368	0.834661	0.16820	0.734893	0.666899	ENSG00000166387	ENST00000534552	.	.	.	5.77	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.33163	-0.9879	5	0.37606	T	0.19	-23.889	8.9551	0.35812	0.6941:0.0:0.3059:0.0	rs5864;rs1128011;rs17187285;rs17348501;rs17851927;rs57460904;rs5864	.	.	.	K	24	.	ENSP00000436489:E24K	E	+	1	0	PPFIBP2	7629591	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	2.058000	0.41374	-0.044000	0.13491	-0.254000	0.11334	GAA	G|0.325;A|0.675	0.675	strong		0.582	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		A	7673015	G	A	7673015	2	1	22	1	0	0	0	0	0	0	0	1	12314	933	33	2		2	PPFIBP2	11	7673015	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10283	7673015	127333501	6006	11114			21	50	1809902	3	3	35	N	T_G_C	7.092376e-05
PPFIBP2	8495	hgsc.bcm.edu	37	chr11	7673029	7673029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggagaagcgagagaaaaTggcctcaccagcttacacac	10	11	1	2	rs77873429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7673029T>C	ENST00000299492.4	+	23	2778	c.2390T>C	c.(2389-2391)aTg>aCg	p.M797T	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.M639T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.M685T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.M654T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	797					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CGAGAGAAAATGGCCTCACCA	0.597													T|||	471	0.0940495	0.2708	0.0476	5008	,	,		19476	0.0149		0.004	False		,,,				2504	0.0624				p.M797T		Atlas-SNP	.											.	PPFIBP2	87	.	0			c.T2390C						PASS	.	T	THR/MET	1144,3258	408.0+/-334.4	146,852,1203	134	129	130		2390	5.8	1	11	dbSNP_131	130	40,8552	27.4+/-76.7	0,40,4256	yes	missense	PPFIBP2	NM_003621.2	81	146,892,5459	CC,CT,TT		0.4655,25.9882,9.1119	benign	797/877	7673029	1184,11810	2201	4296	6497	SO:0001583	missense	8495	exon23			AGAAAATGGCCTC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2390T>C	11.37:g.7673029T>C	ENSP00000299492:p.Met797Thr	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	59	17	0.288136	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	160	0.07326007326007326	129	0.2621951219512195	15	0.04143646408839779	13	0.022727272727272728	3	0.00395778364116095	T	7.418	0.636121	0.14386	0.259882	0.004655	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.29655	1.98;1.57;1.98;1.56	5.77	5.77	0.91146	.	0.127954	0.53938	D	0.000047	T	0.00012	0.0000	L	0.38531	1.155	0.25772	P	0.984823	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002;0.001	T	0.31861	-0.9928	9	0.18276	T	0.48	-17.2519	14.3292	0.66541	0.0:0.0:0.0:1.0	.	685;685;720;639;654;797	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	797;138;639;720;685;654	ENSP00000299492:M797T;ENSP00000436498:M639T;ENSP00000435469:M685T;ENSP00000437321:M654T	ENSP00000299492:M797T	M	+	2	0	PPFIBP2	7629605	1.000000	0.71417	0.994000	0.49952	0.142000	0.21351	2.644000	0.46613	2.326000	0.78906	0.533000	0.62120	ATG	T|0.914;C|0.086	0.086	strong		0.597	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		C	7673029	T	C	7673029	3	2	22	1	0	0	0	0	1	0	0	0	12314	1464	51	2	2476	2	PPFIBP2	11	7673029	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	7673029	127333487	6007	11115			21	50	1809902	3	3	35	N	T_G_C	7.092376e-05
PPFIBP2	8495	hgsc.bcm.edu	37	chr11	7673049	7673049	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcctcaccagcttacacaCcactgaccaccacagccaaa	5	18	1	1	rs77975665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7673049C>G	ENST00000299492.4	+	23	2798	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646A|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692A|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661A	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	804					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGCTTACACACCACTGACCAC	0.612													C|||	445	0.0888578	0.2542	0.0418	5008	,	,		19239	0.0149		0.004	False		,,,				2504	0.0624				p.P804A		Atlas-SNP	.											.	PPFIBP2	87	.	0			c.C2410G						PASS	.	C	ALA/PRO	1038,3364	381.8+/-324.2	119,800,1282	117	116	117		2410	4.8	1	11	dbSNP_132	117	38,8554	26.3+/-74.7	0,38,4258	yes	missense	PPFIBP2	NM_003621.2	27	119,838,5540	GG,GC,CC		0.4423,23.5802,8.2807	probably-damaging	804/877	7673049	1076,11918	2201	4296	6497	SO:0001583	missense	8495	exon23			TACACACCACTGA	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2410C>G	11.37:g.7673049C>G	ENSP00000299492:p.Pro804Ala	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	46	13	0.282609	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	146|146	0.06684981684981685|0.06684981684981685	118|118	0.23983739837398374|0.23983739837398374	12|12	0.03314917127071823|0.03314917127071823	13|13	0.022727272727272728|0.022727272727272728	3|3	0.00395778364116095|0.00395778364116095	C|C	9.478|9.478	1.097421|1.097421	0.20552|0.20552	0.235802|0.235802	0.004423|0.004423	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181|ENST00000534552	T;T;T;T|.	0.36157|.	1.7;1.28;1.68;1.27|.	5.77|5.77	4.84|4.84	0.62591|0.62591	.|.	0.078622|.	0.53938|.	N|.	0.000047|.	T|T	0.00073|0.00073	0.0002|0.0002	M|M	0.76574|0.76574	2.34|2.34	0.09310|0.09310	P|P	0.99999648842|0.99999648842	B;B;P;B;B;B|.	0.36768|.	0.231;0.009;0.569;0.009;0.009;0.231|.	B;B;B;B;B;B|.	0.37480|.	0.128;0.016;0.251;0.01;0.016;0.08|.	T|T	0.00191|0.00191	-1.1936|-1.1936	9|5	0.15499|0.41790	T|T	0.54|0.15	-9.5207|-9.5207	15.0756|15.0756	0.72074|0.72074	0.0:0.846:0.154:0.0|0.0:0.846:0.154:0.0	.|.	692;692;727;646;661;804|.	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;.;LIPB2_HUMAN|.	A|S	804;145;646;727;692;661|35	ENSP00000299492:P804A;ENSP00000436498:P646A;ENSP00000435469:P692A;ENSP00000437321:P661A|.	ENSP00000299492:P804A|ENSP00000436489:T35S	P|T	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7629625|7629625	0.998000|0.998000	0.40836|0.40836	0.987000|0.987000	0.45799|0.45799	0.905000|0.905000	0.53344|0.53344	4.020000|4.020000	0.57189|0.57189	1.525000|1.525000	0.49052|0.49052	0.655000|0.655000	0.94253|0.94253	CCA|ACC	C|0.922;G|0.078	0.078	strong		0.612	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		G	7673049	C	G	7673049	3	3	22	1	0	0	0	0	1	0	0	0	12314	507	18	4	2496	4	PPFIBP2	11	7673049	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20	7673049	127333467	6008	11116			21	50	1809902	3	3	35	N	T_G_C	7.092376e-05
CYB5R2	51700	hgsc.bcm.edu	37	chr11	7687715	7687715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagggtgtaccacaggtTgaactggtctgggtgagtcc	15	9	1	2	rs12801394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7687715T>C	ENST00000533558.1	-	8	1181	c.625A>G	c.(625-627)Aac>Gac	p.N209D	CYB5R2_ENST00000524790.1_Missense_Mutation_p.N209D|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.N209D|CYB5R2_ENST00000299497.9_Missense_Mutation_p.N209D			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	209			N -> D (in dbSNP:rs12801394). {ECO:0000269|PubMed:10611283, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACCACAGGTTGAACTGGTCT	0.512											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3938	0.786342	0.8525	0.6787	5008	,	,		18935	0.8165		0.7634	False		,,,				2504	0.7658				p.N209D		Atlas-SNP	.											.	CYB5R2	23	.	0			c.A625G						PASS	.	C	ASP/ASN	3751,651	278.4+/-274.2	1587,577,37	171	147	155		625	-0.6	0	11	dbSNP_121	155	6621,1971	345.5+/-325.8	2542,1537,217	yes	missense	CYB5R2	NM_016229.3	23	4129,2114,254	CC,CT,TT		22.9399,14.7887,20.1785	benign	209/277	7687715	10372,2622	2201	4296	6497	SO:0001583	missense	51700	exon8			ACAGGTTGAACTG	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.625A>G	11.37:g.7687715T>C	ENSP00000437041:p.Asn209Asp	Somatic	149	0	0	643	WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	1720	0.7875457875457875	420	0.8536585365853658	254	0.7016574585635359	461	0.8059440559440559	585	0.7717678100263852	C	8.160	0.789250	0.16258	0.852113	0.770601	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.79	-0.576	0.11731	Oxidoreductase FAD/NAD(P)-binding (1);	1.013800	0.07867	N	0.967262	T	0.00012	0.0000	N	0.20986	0.625	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45131	-0.9282	9	0.52906	T	0.07	-0.0752	8.1297	0.31020	0.0:0.2108:0.111:0.6782	rs12801394;rs17856046;rs52811226;rs60257764;rs12801394	209	Q6BCY4	NB5R2_HUMAN	D	209	ENSP00000435916:N209D;ENSP00000299498:N209D;ENSP00000437041:N209D;ENSP00000299497:N209D	ENSP00000299497:N209D	N	-	1	0	CYB5R2	7644291	0.414000	0.25408	0.006000	0.13384	0.116000	0.19942	1.336000	0.33850	-0.687000	0.05162	-3.273000	0.00048	AAC	T|0.205;C|0.795	0.795	strong		0.512	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		C	7687715	T	C	7687715	3	2	22	1	0	0	0	0	1	0	0	0	4127	1812	63	2	213	2	CYB5R2	11	7687715	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14666	7687715	127318801	6009	11117										
NLRP10	338322	hgsc.bcm.edu	37	chr11	7982432	7982432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccaggatgaacaggagccGctctggctgcctcagaatct	11	12	3	2	rs59039403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:7982432G>A	ENST00000328600.2	-	2	888	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	243	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACAGGAGCCGCTCTGGCTGC	0.552													G|||	163	0.0325479	0.0446	0.0014	5008	,	,		17215	0.1002		0.001	False		,,,				2504	0.001				p.R243W		Atlas-SNP	.											.	NLRP10	146	.	0			c.C727T						PASS	.	G	TRP/ARG	169,4233	108.6+/-147.0	7,155,2039	41	43	42		727	0.1	1	11	dbSNP_129	42	3,8589	3.0+/-9.4	0,3,4293	yes	missense	NLRP10	NM_176821.3	101	7,158,6332	AA,AG,GG		0.0349,3.8392,1.3237	probably-damaging	243/656	7982432	172,12822	2201	4296	6497	SO:0001583	missense	338322	exon2			GGAGCCGCTCTGG	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.727C>T	11.37:g.7982432G>A	ENSP00000327763:p.Arg243Trp	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	92	0.04212454212454213	22	0.044715447154471545	1	0.0027624309392265192	68	0.11888111888111888	1	0.0013192612137203166	G	15.04	2.715929	0.48622	0.038392	3.49E-4	ENSG00000182261	ENST00000328600	D	0.83914	-1.78	4.85	0.12	0.14691	NACHT nucleoside triphosphatase (1);	0.000000	0.35207	N	0.003364	T	0.15349	0.0370	M	0.92833	3.35	0.38979	P	0.041081000000000034	D	0.89917	1.0	D	0.97110	1.0	T	0.68394	-0.5420	9	0.87932	D	0	.	5.8866	0.18884	0.0987:0.0:0.4385:0.4628	rs59039403	243	Q86W26	NAL10_HUMAN	W	243	ENSP00000327763:R243W	ENSP00000327763:R243W	R	-	1	2	NLRP10	7939008	0.000000	0.05858	0.994000	0.49952	0.475000	0.33008	0.234000	0.17930	0.136000	0.18733	0.655000	0.94253	CGG	G|0.976;A|0.024	0.024	strong		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		A	7982432	G	A	7982432	3	1	22	1	0	0	0	0	1	0	0	0	10472	1086	38	1	1244	1	NLRP10	11	7982432	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	294717	7982432	127024084	6010	11118										
RIC3	79608	hgsc.bcm.edu	37	chr11	8159843	8159843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcctgtgggtgtttccagGcatggcagtatagcatttcc	11	9	0	0	rs73411617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:8159843G>A	ENST00000309737.6	-	3	402	c.403C>T	c.(403-405)Cct>Tct	p.P135S	RIC3_ENST00000425599.2_Missense_Mutation_p.P135S|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.P135S|RIC3_ENST00000539720.1_Missense_Mutation_p.P86S|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	135					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GTGTTTCCAGGCATGGCAGTA	0.453													G|||	272	0.0543131	0.0809	0.0202	5008	,	,		15958	0.0417		0.0229	False		,,,				2504	0.0879				p.P135S		Atlas-SNP	.											.	RIC3	42	.	0			c.C403T						PASS	.	G	,SER/PRO,SER/PRO,SER/PRO	227,4175	135.3+/-171.4	6,215,1980	295	284	288		,403,403,403	2.8	1	11	dbSNP_130	288	298,8294	110.8+/-171.2	2,294,4000	yes	intron,missense,missense,missense	RIC3	NM_001135109.1,NM_001206671.1,NM_001206672.1,NM_024557.3	,74,74,74	8,509,5980	AA,AG,GG		3.4683,5.1567,4.0403	,benign,benign,benign	,135/370,135/289,135/369	8159843	525,12469	2201	4296	6497	SO:0001583	missense	79608	exon3			TTCCAGGCATGGC		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.403C>T	11.37:g.8159843G>A	ENSP00000308820:p.Pro135Ser	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_001206672	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	CCDS55742.1	84	0.038461538461538464	41	0.08333333333333333	7	0.019337016574585635	24	0.04195804195804196	12	0.0158311345646438	G	9.655	1.142697	0.21205	0.051567	0.034683	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.78	2.83	0.33086	.	0.507406	0.21009	N	0.081709	T	0.00875	0.0029	L	0.35723	1.085	0.38464	D	0.947287	B;P;B;B	0.46859	0.046;0.885;0.015;0.005	B;B;B;B	0.39805	0.018;0.31;0.02;0.02	T	0.07578	-1.0765	10	0.26408	T	0.33	.	10.4847	0.44715	0.0715:0.4431:0.4854:0.0	.	135;135;135;135	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	S	135;135;135;86;135;135	ENSP00000344904:P135S;ENSP00000308820:P135S;ENSP00000443871:P86S;ENSP00000395320:P135S;ENSP00000431658:P135S	ENSP00000308820:P135S	P	-	1	0	RIC3	8116419	0.643000	0.27269	0.960000	0.40013	0.733000	0.41908	0.812000	0.27211	0.330000	0.23485	-0.233000	0.12211	CCT	G|0.958;A|0.042	0.042	strong		0.453	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		A	8159843	G	A	8159843	3	1	22	1	0	0	0	0	1	0	0	0	13354	1203	42	2	719	2	RIC3	11	8159843	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	177411	8159843	126846673	6011	11119										
LMO1	4004	hgsc.bcm.edu	37	chr11	8246181	8246181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttactgaacttgggattcAaaggtgccattgagctgccc	11	10	1	2	rs1042359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:8246181A>G	ENST00000335790.3	-	4	948	c.453T>C	c.(451-453)ttT>ttC	p.F151F	LMO1_ENST00000534484.1_Silent_p.F140F|LMO1_ENST00000428101.2_Silent_p.F150F	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	151					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CTTGGGATTCAAAGGTGCCAT	0.552			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							A|||	898	0.179313	0.3759	0.1225	5008	,	,		16806	0.0585		0.1431	False		,,,				2504	0.1155				p.F151F		Atlas-SNP	.	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	.	LMO1	14	.	0			c.T453C						PASS	.	A		1221,2657		189,843,907	67	68	68		453	3.2	1	11	dbSNP_86	68	1344,6948		105,1134,2907	no	coding-synonymous	LMO1	NM_002315.1		294,1977,3814	GG,GA,AA		16.2084,31.4853,21.0764		151/157	8246181	2565,9605	1939	4146	6085	SO:0001819	synonymous_variant	4004	exon4			GGATTCAAAGGTG	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.453T>C	11.37:g.8246181A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	123	68	0.552846	NM_002315	E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	37	CCDS44534.1																																																																																			G|0.176;N|0.002	0.176	strong		0.552	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		G	8246181	A	G	8246181	2	3	22	1	0	0	0	0	0	0	0	1	8851	127	5	2		2	LMO1	11	8246181	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86338	8246181	126760335	6012	11120										
C11orf16	56673	hgsc.bcm.edu	37	chr11	8942889	8942890	+	Frame_Shift_Del	DEL	AT	AT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaattcttgttccactgacAtattgcaaggctctgactcc					rs398102297|rs10583719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:8942889_8942890delAT	ENST00000326053.5	-	6	1483_1484	c.1377_1378delAT	c.(1375-1380)atatgtfs	p.IC459fs	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	459										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCCACTGACATATTGCAAGGC	0.54														164	0.0327476	0.1135	0.0173	5008	,	,		18882	0.0		0.002	False		,,,				2504	0.0				p.460_460del		Pindel,Atlas-Indel	.											.	C11orf16	43	.	0			c.1378_1379del						PASS	.			445,3819		22,401,1709						-1.1	0		dbSNP_119	130	6,8248		0,6,4121	no	frameshift	C11orf16	NM_020643.2		22,407,5830	A1A1,A1R,RR		0.0727,10.4362,3.6028				451,12067				SO:0001589	frameshift_variant	56673	exon6			.	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1377_1378delAT	11.37:g.8942891_8942892delAT	ENSP00000318999:p.Ile459fs	Somatic	174	.	.		WXS	Illumina HiSeq	Phase_I	179	52	0.291	NM_020643	Q53FB2|Q8N6Y9	Frame_Shift_Del	DEL	ENST00000326053.5	37	CCDS7794.1																																																																																			AT|0.978;-|0.022	0.022	strong		0.54	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		-	8942890	AT	-	8942889	7	5	22	1	0	1	0	1	0	0	0	0	1631	217	8	0	29	0	C11orf16	11	8942889	Frame_Shift_Del	DEL	AT	TCGA-G8-6324-01A-11D-2210-10	696708	8942889	126063627	6013	11121										
SCUBE2	57758	hgsc.bcm.edu	37	chr11	9051475	9051475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccatcaaagtcagtcgtaGtatttcctgggcaagaaaca	9	9	2	1	rs3751057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:9051475G>C	ENST00000309263.3	-	18	2444	c.2372C>G	c.(2371-2373)aCt>aGt	p.T791S	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.T665S|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T763S|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T820S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	791			T -> S (in dbSNP:rs3751057).			extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTCAGTCGTAGTATTTCCTGG	0.433													G|||	475	0.0948482	0.1097	0.0519	5008	,	,		20560	0.121		0.0676	False		,,,				2504	0.1063				p.T763S		Atlas-SNP	.											.	SCUBE2	102	.	0			c.C2288G						PASS	.	G	SER/THR,SER/THR	476,3926	226.2+/-241.8	20,436,1745	208	202	204		1994,2288	5.2	1	11	dbSNP_107	204	703,7889	173.2+/-223.7	27,649,3620	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	58,58	47,1085,5365	CC,CG,GG		8.182,10.8133,9.0734	probably-damaging,probably-damaging	665/808,763/972	9051475	1179,11815	2201	4296	6497	SO:0001583	missense	57758	exon18			GTCGTAGTATTTC	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2372C>G	11.37:g.9051475G>C	ENSP00000310658:p.Thr791Ser	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	269	123	0.457249	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		176	0.08058608058608059	57	0.11585365853658537	17	0.04696132596685083	53	0.09265734265734266	49	0.06464379947229551	G	26.1	4.705731	0.89018	0.108133	0.08182	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.19	5.19	0.71726	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	M	0.84585	2.705	0.09310	P	0.9999999293489	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.55127	-0.8189	9	0.62326	D	0.03	.	18.7036	0.91630	0.0:0.0:1.0:0.0	rs3751057;rs52803158;rs56444362;rs3751057	665;763;791	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	S	820;791;665;763	ENSP00000390481:T820S;ENSP00000310658:T791S;ENSP00000415187:T665S;ENSP00000429969:T763S	ENSP00000310658:T791S	T	-	2	0	SCUBE2	9008051	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	7.879000	0.87236	2.415000	0.81967	0.491000	0.48974	ACT	G|0.908;C|0.092	0.092	strong		0.433	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		C	9051475	G	C	9051475	3	2	22	1	0	0	0	0	1	0	0	0	13945	1029	36	4	647	4	SCUBE2	11	9051475	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108586	9051475	125955041	6014	11122										
DENND5A	23258	hgsc.bcm.edu	37	chr11	9286515	9286515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcgcactcacccgacagCtcgtccggctccagcccggt	12	19	1	0	rs75717840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:9286515C>T	ENST00000328194.3	-	1	422	c.102G>A	c.(100-102)gaG>gaA	p.E34E	DENND5A_ENST00000530044.1_Silent_p.E34E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	34					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACCCGACAGCTCGTCCGGCT	0.711													C|||	104	0.0207668	0.0772	0.0029	5008	,	,		8908	0.0		0.0	False		,,,				2504	0.0				p.E34E		Atlas-SNP	.											.	DENND5A	84	.	0			c.G102A						PASS	.	C		216,3890		5,206,1842	6	7	6		102	1.3	0.2	11	dbSNP_132	6	4,8126		0,4,4061	no	coding-synonymous	DENND5A	NM_015213.3		5,210,5903	TT,TC,CC		0.0492,5.2606,1.798		34/1288	9286515	220,12016	2053	4065	6118	SO:0001819	synonymous_variant	23258	exon1			CGACAGCTCGTCC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.102G>A	11.37:g.9286515C>T		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	42	25	0.595238	NM_015213	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	CCDS31423.1																																																																																			C|0.980;T|0.020	0.020	strong		0.711	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		T	9286515	C	T	9286515	2	4	22	1	0	0	0	0	0	0	0	1	4436	796	28	2		2	DENND5A	11	9286515	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	235040	9286515	125720001	6015	11123										
TMEM41B	440026	hgsc.bcm.edu	37	chr11	9305136	9305136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacaaaagaaggaggtgcGacacctgaaataaaatataa	9	6	0	2	rs77349011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:9305136G>A	ENST00000528080.1	-	7	1049	c.711C>T	c.(709-711)gtC>gtT	p.V237V	TMEM41B_ENST00000527813.1_Missense_Mutation_p.S191L	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	237					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAGGAGGTGCGACACCTGAAA	0.333													G|||	356	0.0710863	0.2557	0.0231	5008	,	,		14041	0.0		0.002	False		,,,				2504	0.0				p.V237V		Atlas-SNP	.											TMEM41B,NS,haematopoietic_neoplasm,0,1	TMEM41B	22	1	0			c.C711T						PASS	.	G		876,3526	335.5+/-303.9	87,702,1412	45	43	44		711	0.6	1	11	dbSNP_131	44	9,8583	7.1+/-27.0	0,9,4287	no	coding-synonymous	TMEM41B	NM_015012.3		87,711,5699	AA,AG,GG		0.1047,19.9,6.8108		237/292	9305136	885,12109	2201	4296	6497	SO:0001819	synonymous_variant	440026	exon7			AGGTGCGACACCT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.711C>T	11.37:g.9305136G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_015012	D3DQU9|E9PP29|Q15055|Q4G0P0	Silent	SNP	ENST00000528080.1	37	CCDS31424.1	109	0.04990842490842491	102	0.2073170731707317	7	0.019337016574585635	0	0.0	0	0.0	G	11.73	1.724415	0.30593	0.199	0.001047	ENSG00000166471	ENST00000527813	.	.	.	5.55	0.652	0.17823	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.17137	-1.0379	4	0.59425	D	0.04	-12.5515	1.822	0.03112	0.415:0.2125:0.2657:0.1069	.	.	.	.	L	191	.	ENSP00000435685:S191L	S	-	2	0	TMEM41B	9261712	0.806000	0.28996	0.997000	0.53966	0.830000	0.47004	0.020000	0.13466	-0.132000	0.11557	-1.004000	0.02495	TCG	G|0.941;A|0.059	0.059	strong		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			A	9305136	G	A	9305136	2	1	22	1	0	0	0	0	0	0	0	1	16162	1045	37	1		1	TMEM41B	11	9305136	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18621	9305136	125701380	6016	11124										
IPO7	10527	hgsc.bcm.edu	37	chr11	9456506	9456506	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcccctccttcataattaTgtaacagttgatacagacac	5	11	1	2	rs148344816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:9456506T>C	ENST00000379719.3	+	19	2242	c.2100T>C	c.(2098-2100)taT>taC	p.Y700Y	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	700					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTCATAATTATGTAACAGTTG	0.308													T|||	6	0.00119808	0.0045	0.0	5008	,	,		19628	0.0		0.0	False		,,,				2504	0.0				p.Y700Y		Atlas-SNP	.											.	IPO7	72	.	0			c.T2100C						PASS	.	T		23,4379	29.9+/-59.1	0,23,2178	119	115	116		2100	3.3	1	11	dbSNP_134	116	0,8588		0,0,4294	no	coding-synonymous	IPO7	NM_006391.2		0,23,6472	CC,CT,TT		0.0,0.5225,0.1771		700/1039	9456506	23,12967	2201	4294	6495	SO:0001819	synonymous_variant	10527	exon19			TAATTATGTAACA	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2100T>C	11.37:g.9456506T>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	89	55	0.617977	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	CCDS31425.1																																																																																			T|0.998;C|0.002	0.002	strong		0.308	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		C	9456506	T	C	9456506	2	2	22	1	0	0	0	0	0	0	0	1	7797	1471	51	2		2	IPO7	11	9456506	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	151370	9456506	125550010	6017	11125										
SWAP70	23075	hgsc.bcm.edu	37	chr11	9769483	9769483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggccattcagacaacCgaggcggagaagcaggagtt	14	10	1	2	rs34696762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:9769483C>T	ENST00000318950.6	+	10	1537	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	SWAP70_ENST00000447399.2_Silent_p.T420T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	478					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TTCAGACAACCGAGGCGGAGA	0.552													C|||	917	0.183107	0.3351	0.1599	5008	,	,		16981	0.3075		0.008	False		,,,				2504	0.046				p.T478T		Atlas-SNP	.											.	SWAP70	40	.	0			c.C1434T						PASS	.	C		1151,3251	410.6+/-335.4	151,849,1201	99	95	96		1434	-11.7	0	11	dbSNP_126	96	65,8523	37.8+/-93.5	0,65,4229	no	coding-synonymous	SWAP70	NM_015055.2		151,914,5430	TT,TC,CC		0.7569,26.1472,9.361		478/586	9769483	1216,11774	2201	4294	6495	SO:0001819	synonymous_variant	23075	exon10			GACAACCGAGGCG	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1434C>T	11.37:g.9769483C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	130	61	0.469231	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	CCDS31426.1																																																																																			C|0.889;T|0.111	0.111	strong		0.552	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		T	9769483	C	T	9769483	2	4	22	1	0	0	0	0	0	0	0	1	15422	639	23	1		1	SWAP70	11	9769483	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	312977	9769483	125237033	6018	11126										
AMPD3	272	hgsc.bcm.edu	37	chr11	10503756	10503756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggcggatactgcacctccGgaagagggccttccaggtat	14	12	0	1	rs16907852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:10503756G>A	ENST00000396554.3	+	4	941	c.600G>A	c.(598-600)ccG>ccA	p.P200P	AMPD3_ENST00000444303.2_Silent_p.P32P	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	191					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGCACCTCCGGAAGAGGGCC	0.607													G|||	657	0.13119	0.3253	0.0879	5008	,	,		17518	0.003		0.0994	False		,,,				2504	0.0644				p.P200P		Atlas-SNP	.											.	AMPD3	68	.	0			c.G600A						PASS	.	G	,,,,	1210,3188		160,890,1149	37	42	40		600,573,594,573,96	-4.3	0	11	dbSNP_123	40	796,7790		30,736,3527	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	190,1626,4676	AA,AG,GG		9.2709,27.5125,15.4498	,,,,	200/777,191/768,198/775,191/768,32/609	10503756	2006,10978	2199	4293	6492	SO:0001819	synonymous_variant	272	exon4			ACCTCCGGAAGAG	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.600G>A	11.37:g.10503756G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	25	0.480769	NM_000480	A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	CCDS7802.1																																																																																			G|0.846;A|0.154	0.154	strong		0.607	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		A	10503756	G	A	10503756	2	1	22	1	0	0	0	0	0	0	0	1	587	1103	39	1		1	AMPD3	11	10503756	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	734273	10503756	124502760	6019	11127										
AMPD3	272	hgsc.bcm.edu	37	chr11	10526179	10526179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgagatcgccaggaacagCgtgctgcagagcggcctctc	14	12	1	2	rs375685508		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:10526179C>T	ENST00000396554.3	+	14	2468	c.2127C>T	c.(2125-2127)agC>agT	p.S709S	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.S541S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	700					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCAGGAACAGCGTGCTGCAGA	0.587																																					p.S709S		Atlas-SNP	.											.	AMPD3	68	.	0			c.C2127T						PASS	.	C	,,,,	0,4402		0,0,2201	177	141	154		2127,2100,2121,2100,1623	-9.7	0.5	11		154	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,,,,	709/777,700/768,707/775,700/768,541/609	10526179	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	272	exon14			GAACAGCGTGCTG	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.2127C>T	11.37:g.10526179C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	120	43	0.358333	NM_000480	A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	CCDS7802.1																																																																																			.	.	weak		0.587	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		T	10526179	C	T	10526179	2	4	22	1	0	0	0	0	0	0	0	1	587	767	27	1		1	AMPD3	11	10526179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22423	10526179	124480337	6020	11128										
EIF4G2	1982	hgsc.bcm.edu	37	chr11	10821185	10821185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttatatatggtttgaggGgatggatccaactttatttg	10	4	0	1	rs11542384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:10821185G>A	ENST00000526148.1	-	19	2748	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	EIF4G2_ENST00000396525.2_Silent_p.S708S|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.S746S|EIF4G2_ENST00000525681.1_Silent_p.S746S	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGTTTGAGGGGATGGATCCA	0.378													G|||	614	0.122604	0.4342	0.0504	5008	,	,		20172	0.0		0.005	False		,,,				2504	0.0				p.S746S		Atlas-SNP	.											.	EIF4G2	89	.	0			c.C2238T						PASS	.	G	,,	1686,2716	512.4+/-368.1	337,1012,852	148	145	146		2124,2238,2238	4.6	1	11	dbSNP_120	146	27,8561	17.3+/-56.4	0,27,4267	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4G2	NM_001042559.2,NM_001172705.1,NM_001418.3	,,	337,1039,5119	AA,AG,GG		0.3144,38.3008,13.1871	,,	708/870,746/908,746/908	10821185	1713,11277	2201	4294	6495	SO:0001819	synonymous_variant	1982	exon19			TTGAGGGGATGGA	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2238C>T	11.37:g.10821185G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	198	86	0.434343	NM_001172705		Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																			T|0.000;G|0.885;C|0.000;A|0.115	0.115	strong		0.378	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		A	10821185	G	A	10821185	2	1	22	1	0	0	0	0	0	0	0	1	5037	1219	43	2		2	EIF4G2	11	10821185	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	295006	10821185	124185331	6021	11129										
GALNTL4	374378	hgsc.bcm.edu	37	chr11	11292700	11292700	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccggtgggtcaggacgcGaggctcctcaggacgttggt	17	12	2	0	rs10831567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:11292700G>C	ENST00000227756.4	-	11	2226	c.1815C>G	c.(1813-1815)ctC>ctG	p.L605L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	605					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L605L(1)									GTCAGGACGCGAGGCTCCTCA	0.612													c|||	2005	0.400359	0.32	0.5058	5008	,	,		14500	0.38		0.4294	False		,,,				2504	0.4254				p.L605L		Atlas-SNP	.											GALNTL4,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.C1815G						PASS	.			1557,2845	668.4+/-402.0	272,1013,916	59	56	57		1815	4.8	1	11	dbSNP_120	57	3659,4929	622.1+/-397.3	765,2129,1400	no	coding-synonymous	GALNTL4	NM_198516.2		1037,3142,2316	CC,CG,GG		42.606,35.3703,40.154		605/608	11292700	5216,7774	2201	4294	6495	SO:0001819	synonymous_variant	374378	exon11			GGACGCGAGGCTC	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1815C>G	11.37:g.11292700G>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_198516	O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	CCDS7807.1																																																																																			G|0.596;C|0.404	0.404	strong		0.612	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		C	11292700	G	C	11292700	2	2	22	1	0	0	0	0	0	0	0	1	6223	1045	37	4		4	GALNTL4	11	11292700	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	471515	11292700	123713816	6022	11130										
DKK3	27122	hgsc.bcm.edu	37	chr11	12023868	12023868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgaatttctcggtgcacAtggatggtattatttccaac	9	7	1	1	rs79628149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:12023868A>G	ENST00000396505.2	-	3	568	c.330T>C	c.(328-330)caT>caC	p.H110H	DKK3_ENST00000525493.1_Silent_p.H110H|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Silent_p.H110H|DKK3_ENST00000450094.2_Silent_p.H110H	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	110					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTCGGTGCACATGGATGGTAT	0.433													A|||	45	0.00898562	0.028	0.0101	5008	,	,		18698	0.0		0.001	False		,,,				2504	0.0				p.H110H		Atlas-SNP	.											.	DKK3	35	.	0			c.T330C						PASS	.	A	,,	109,4293	86.3+/-125.0	0,109,2092	308	260	276		330,330,330	-11.1	0.1	11	dbSNP_132	276	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	DKK3	NM_001018057.1,NM_013253.4,NM_015881.5	,,	0,109,6386	GG,GA,AA		0.0,2.4761,0.8391	,,	110/351,110/351,110/351	12023868	109,12881	2201	4294	6495	SO:0001819	synonymous_variant	27122	exon2			GTGCACATGGATG	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.330T>C	11.37:g.12023868A>G		Somatic	362	1	0.00276243		WXS	Illumina HiSeq	Phase_I	361	164	0.454294	NM_001018057	A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	CCDS7808.1																																																																																			A|0.991;G|0.009	0.009	strong		0.433	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		G	12023868	A	G	12023868	2	3	22	1	0	0	0	0	0	0	0	1	4546	214	8	2		2	DKK3	11	12023868	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	731168	12023868	122982648	6023	11131										
MICAL2	9645	hgsc.bcm.edu	37	chr11	12229655	12229655	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtggagttcgtgaaggtTctagagcctcctgaagatca	12	7	2	4	rs2279390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:12229655T>G	ENST00000256194.4	+	5	846	c.558T>G	c.(556-558)gtT>gtG	p.V186V	MICAL2_ENST00000537344.1_Silent_p.V186V|MICAL2_ENST00000342902.5_Silent_p.V186V|MICAL2_ENST00000527546.1_Silent_p.V186V|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Silent_p.V186V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	186	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCGTGAAGGTTCTAGAGCCTC	0.423													T|||	2012	0.401757	0.4856	0.245	5008	,	,		20845	0.501		0.2584	False		,,,				2504	0.4448				p.V186V		Atlas-SNP	.											.	MICAL2	114	.	0			c.T558G						PASS	.	T		2029,2373	564.5+/-381.5	461,1107,633	185	169	174		558	-0.9	0.7	11	dbSNP_100	174	2028,6560	354.2+/-329.4	230,1568,2496	no	coding-synonymous	MICAL2	NM_014632.2		691,2675,3129	GG,GT,TT		23.6143,46.0927,31.2317		186/1125	12229655	4057,8933	2201	4294	6495	SO:0001819	synonymous_variant	9645	exon5			GAAGGTTCTAGAG	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.558T>G	11.37:g.12229655T>G		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	162	160	0.987654	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																			G|0.341;N|0.000	0.341	strong		0.423	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		G	12229655	T	G	12229655	2	3	22	1	0	0	0	0	0	0	0	1	9570	1770	62	5		5	MICAL2	11	12229655	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	205787	12229655	122776861	6024	11132										
MICALCL	84953	hgsc.bcm.edu	37	chr11	12315186	12315186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaactttcggaggcgagccGtagcccaaggagcacccagg	13	13	0	0	rs10741578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:12315186G>A	ENST00000256186.2	+	3	499	c.208G>A	c.(208-210)Gta>Ata	p.V70I		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	70	Interaction with MAPK1. {ECO:0000250}.		V -> I (in dbSNP:rs10741578). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGGCGAGCCGTAGCCCAAGG	0.567													A|||	2673	0.533746	0.6377	0.585	5008	,	,		12833	0.5952		0.3658	False		,,,				2504	0.4663				p.V70I		Atlas-SNP	.											.	MICALCL	59	.	0			c.G208A						PASS	.	A	ILE/VAL	2193,1683		622,949,367	140	147	145		208	2.1	0	11	dbSNP_120	145	2950,5296		529,1892,1702	yes	missense	MICALCL	NM_032867.2	29	1151,2841,2069	AA,AG,GG		35.7749,43.4211,42.427	benign	70/696	12315186	5143,6979	1938	4123	6061	SO:0001583	missense	84953	exon3			CGAGCCGTAGCCC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.208G>A	11.37:g.12315186G>A	ENSP00000256186:p.Val70Ile	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	109	53	0.486239	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	1116	0.510989010989011	292	0.5934959349593496	187	0.5165745856353591	361	0.6311188811188811	276	0.3641160949868074	A	10.32	1.317556	0.23908	0.565789	0.357749	ENSG00000133808	ENST00000256186	T	0.05855	3.38	5.71	2.09	0.27110	.	0.527164	0.15463	N	0.261051	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13791	-1.0496	9	0.12430	T	0.62	.	5.1684	0.15098	0.4295:0.3887:0.1818:0.0	rs10741578;rs56735949;rs10741578	70	Q6ZW33	MICLK_HUMAN	I	70	ENSP00000256186:V70I	ENSP00000256186:V70I	V	+	1	0	MICALCL	12271762	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.283000	0.18846	0.095000	0.17434	-0.254000	0.11334	GTA	G|0.506;A|0.494	0.494	strong		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		A	12315186	G	A	12315186	3	1	22	1	0	0	0	0	1	0	0	0	9572	1145	40	1	214	1	MICALCL	11	12315186	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85531	12315186	122691330	6025	11133										
MICALCL	84953	hgsc.bcm.edu	37	chr11	12315848	12315848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctttccaactctgaaggCgggaagaaggcctgggccaa	12	12	1	2	rs1493952	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:12315848C>T	ENST00000256186.2	+	3	1161	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	290					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACTCTGAAGGCGGGAAGAAGG	0.567																																					p.G290G		Atlas-SNP	.											.	MICALCL	59	.	0			c.C870T						PASS	.	T		2016,1876		518,980,448	52	58	56		870	-1.6	0	11	dbSNP_88	56	2614,5620		424,1766,1927	no	coding-synonymous	MICALCL	NM_032867.2		942,2746,2375	TT,TC,CC		31.7464,48.2014,38.1824		290/696	12315848	4630,7496	1946	4117	6063	SO:0001819	synonymous_variant	84953	exon3			TGAAGGCGGGAAG	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.870C>T	11.37:g.12315848C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	26	16	0.615385	NM_032867	Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	CCDS41620.1																																																																																			C|0.576;T|0.424	0.424	strong		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		T	12315848	C	T	12315848	2	4	22	1	0	0	0	0	0	0	0	1	9572	755	27	1		1	MICALCL	11	12315848	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	662	12315848	122690668	6026	11134										
MICALCL	84953	hgsc.bcm.edu	37	chr11	12315915	12315915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctgcactcgctcattcAgccttcggaaaaccaattcc	7	15	2	0	rs1493954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:12315915A>G	ENST00000256186.2	+	3	1228	c.937A>G	c.(937-939)Agc>Ggc	p.S313G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	313			S -> G (in dbSNP:rs1493954). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCGCTCATTCAGCCTTCGGAA	0.572													A|||	2659	0.53095	0.618	0.4755	5008	,	,		17570	0.6786		0.3429	False		,,,				2504	0.4939				p.S313G		Atlas-SNP	.											.	MICALCL	59	.	0			c.A937G						PASS	.	A	GLY/SER	2129,1777		601,927,425	87	97	94		937	5.4	0.1	11	dbSNP_88	94	2779,5495		490,1799,1848	yes	missense	MICALCL	NM_032867.2	56	1091,2726,2273	GG,GA,AA		33.5871,45.4941,40.2956	benign	313/696	12315915	4908,7272	1953	4137	6090	SO:0001583	missense	84953	exon3			TCATTCAGCCTTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.937A>G	11.37:g.12315915A>G	ENSP00000256186:p.Ser313Gly	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	1080	0.4945054945054945	284	0.5772357723577236	154	0.425414364640884	381	0.666083916083916	261	0.34432717678100266	A	9.494	1.101419	0.20632	0.545059	0.335871	ENSG00000133808	ENST00000256186	T	0.37915	1.17	5.41	5.41	0.78517	.	0.217809	0.32640	N	0.005834	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	B	0.22851	0.076	B	0.20384	0.029	T	0.35500	-0.9786	9	0.22109	T	0.4	.	11.8195	0.52230	1.0:0.0:0.0:0.0	rs1493954;rs56583837;rs57257051;rs1493954	313	Q6ZW33	MICLK_HUMAN	G	313	ENSP00000256186:S313G	ENSP00000256186:S313G	S	+	1	0	MICALCL	12272491	0.750000	0.28316	0.132000	0.22025	0.076000	0.17211	3.504000	0.53347	2.049000	0.60858	0.455000	0.32223	AGC	A|0.511;C|0.004	.	strong		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		G	12315915	A	G	12315915	3	3	22	1	0	0	0	0	1	0	0	0	9572	188	7	3	943	3	MICALCL	11	12315915	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67	12315915	122690601	6027	11135										
INSC	387755	hgsc.bcm.edu	37	chr11	15170686	15170686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattttcagggtcacgaccGctgcaagcaggctttgctgc	11	12	2	0	rs61877970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:15170686G>A	ENST00000379554.3	+	2	153	c.107G>A	c.(106-108)cGc>cAc	p.R36H	INSC_ENST00000424273.1_De_novo_Start_OutOfFrame|INSC_ENST00000525218.1_De_novo_Start_OutOfFrame|INSC_ENST00000379556.3_De_novo_Start_OutOfFrame|INSC_ENST00000528567.1_De_novo_Start_OutOfFrame|INSC_ENST00000530161.1_De_novo_Start_OutOfFrame	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	36					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGTCACGACCGCTGCAAGCAG	0.562													G|||	198	0.0395367	0.0424	0.0605	5008	,	,		20792	0.0159		0.0646	False		,,,				2504	0.0194				p.R36H		Atlas-SNP	.											.	INSC	104	.	0			c.G107A						PASS	.	G	HIS/ARG,	255,4143	134.1+/-170.4	16,223,1960	61	62	62		107,	0.9	0.1	11	dbSNP_129	62	615,7967	158.5+/-212.0	28,559,3704	yes	missense,utr-5	INSC	NM_001031853.3,NM_001042536.1	29,	44,782,5664	AA,AG,GG		7.1662,5.7981,6.7026	possibly-damaging,	36/580,	15170686	870,12110	2199	4291	6490	SO:0001583	missense	387755	exon2			ACGACCGCTGCAA	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.107G>A	11.37:g.15170686G>A	ENSP00000368872:p.Arg36His	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_001031853	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	105	0.04807692307692308	20	0.04065040650406504	20	0.055248618784530384	13	0.022727272727272728	52	0.06860158311345646	G	3.156	-0.173145	0.06421	0.057981	0.071662	ENSG00000188487	ENST00000379554	T	0.33654	1.4	4.99	0.942	0.19525	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.19775	N	0.99995	B	0.02656	0.0	B	0.01281	0.0	T	0.13845	-1.0494	9	0.56958	D	0.05	-0.8183	6.8675	0.24102	0.3934:0.0:0.6066:0.0	rs61877970	36	Q1MX18	INSC_HUMAN	H	36	ENSP00000368872:R36H	ENSP00000368872:R36H	R	+	2	0	INSC	15127262	0.036000	0.19791	0.100000	0.21137	0.019000	0.09904	0.086000	0.14935	0.015000	0.14971	0.561000	0.74099	CGC	G|0.946;A|0.054	0.054	strong		0.562	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		A	15170686	G	A	15170686	3	1	22	1	0	0	0	0	1	0	0	0	7764	1087	38	1	113	1	INSC	11	15170686	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2854771	15170686	119835830	6028	11136										
PLEKHA7	144100	hgsc.bcm.edu	37	chr11	16837788	16837788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taacccatggagggcatggaGcgtcggtccacatgagatga	14	9	0	2	rs217750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:16837788G>A	ENST00000355661.3	-	12	1900	c.1890C>T	c.(1888-1890)cgC>cgT	p.R630R	PLEKHA7_ENST00000448080.2_Silent_p.R630R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R630R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	630	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGGCATGGAGCGTCGGTCCA	0.557													G|||	566	0.113019	0.2466	0.0735	5008	,	,		19217	0.0		0.17	False		,,,				2504	0.0184				p.R630R		Atlas-SNP	.											.	PLEKHA7	120	.	0			c.C1890T						PASS	.	G		985,3415	368.1+/-318.5	109,767,1324	104	87	93		1890	4.8	1	11	dbSNP_79	93	1265,7323	251.2+/-277.8	71,1123,3100	no	coding-synonymous	PLEKHA7	NM_175058.4		180,1890,4424	AA,AG,GG		14.7299,22.3864,17.3237		630/1122	16837788	2250,10738	2200	4294	6494	SO:0001819	synonymous_variant	144100	exon12			CATGGAGCGTCGG	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1890C>T	11.37:g.16837788G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	64	35	0.546875	NM_175058	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1	262	0.11996336996336997	105	0.21341463414634146	22	0.06077348066298342	0	0.0	135	0.17810026385224276	G	10.56	1.384486	0.25031	0.223864	0.147299	ENSG00000166689	ENST00000530489	.	.	.	5.67	4.75	0.60458	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.01725	-1.1287	3	.	.	.	-18.1367	13.7276	0.62767	0.0748:0.0:0.9252:0.0	rs217750;rs217750	.	.	.	V	261	.	.	A	-	2	0	PLEKHA7	16794364	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.547000	0.36190	1.364000	0.46038	0.563000	0.77884	GCT	G|0.854;A|0.146	0.146	strong		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		A	16837788	G	A	16837788	2	1	22	1	0	0	0	0	0	0	0	1	12061	958	34	2		2	PLEKHA7	11	16837788	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1667102	16837788	118168728	6029	11137										
PIK3C2A	5286	hgsc.bcm.edu	37	chr11	17118687	17118687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgtctaaaggagtatgTtttaggtgaaaatgaaagga	11	2	2	2	rs11604561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:17118687T>C	ENST00000265970.7	-	26	4242	c.4243A>G	c.(4243-4245)Aca>Gca	p.T1415A	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T1035A	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1415			T -> A (in dbSNP:rs11604561).		clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAGGAGTATGTTTTAGGTGAA	0.348													T|||	402	0.0802716	0.0968	0.1081	5008	,	,		19717	0.0109		0.1243	False		,,,				2504	0.0644				p.T1415A		Atlas-SNP	.											.	PIK3C2A	148	.	0			c.A4243G						PASS	.	T	ALA/THR	431,3969	209.8+/-230.5	24,383,1793	121	117	118		4243	5	1	11	dbSNP_120	118	1075,7511	225.5+/-261.6	73,929,3291	yes	missense	PIK3C2A	NM_002645.2	58	97,1312,5084	CC,CT,TT		12.5204,9.7955,11.5971	benign	1415/1687	17118687	1506,11480	2200	4293	6493	SO:0001583	missense	5286	exon26			AGTATGTTTTAGG	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4243A>G	11.37:g.17118687T>C	ENSP00000265970:p.Thr1415Ala	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	42	0.538462	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	185	0.08470695970695971	43	0.08739837398373984	48	0.13259668508287292	6	0.01048951048951049	88	0.11609498680738786	T	15.83	2.950077	0.53186	0.097955	0.125204	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.63580	-0.05;0.37	6.07	4.96	0.65561	.	0.042928	0.85682	D	0.000000	T	0.00967	0.0032	M	0.71581	2.175	0.09310	P	0.999996412	B	0.16603	0.018	B	0.15052	0.012	T	0.30822	-0.9965	9	0.33141	T	0.24	-17.7599	11.6847	0.51479	0.0:0.0683:0.0:0.9317	rs11604561;rs17640755;rs57703026;rs11604561	1415	O00443	P3C2A_HUMAN	A	1415;1035	ENSP00000265970:T1415A;ENSP00000438687:T1035A	ENSP00000265970:T1415A	T	-	1	0	PIK3C2A	17075263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.121000	0.57904	2.326000	0.78906	0.533000	0.62120	ACA	T|0.898;C|0.102	0.102	strong		0.348	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		C	17118687	T	C	17118687	3	2	22	1	0	0	0	0	1	0	0	0	11909	1725	60	2	845	2	PIK3C2A	11	17118687	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	280899	17118687	117887829	6030	11138										
PIK3C2A	5286	hgsc.bcm.edu	37	chr11	17191019	17191019	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtgagcttttctacatcAatatctaatgctcttttttg	7	7	4	1	rs214936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:17191019A>G	ENST00000265970.7	-	1	269	c.270T>C	c.(268-270)atT>atC	p.I90I	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	90	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTCTACATCAATATCTAATG	0.378													a|||	1823	0.364018	0.3744	0.3847	5008	,	,		21861	0.1845		0.497	False		,,,				2504	0.3834				p.I90I		Atlas-SNP	.											.	PIK3C2A	148	.	0			c.T270C						PASS	.	A		1680,2720	509.6+/-367.3	318,1044,838	182	181	182		270	2	1	11	dbSNP_79	182	3973,4613	552.3+/-386.1	900,2173,1220	no	coding-synonymous	PIK3C2A	NM_002645.2		1218,3217,2058	GG,GA,AA		46.273,38.1818,43.5315		90/1687	17191019	5653,7333	2200	4293	6493	SO:0001819	synonymous_variant	5286	exon1			TACATCAATATCT	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.270T>C	11.37:g.17191019A>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	292	139	0.476027	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																			A|0.601;G|0.399	0.399	strong		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17191019	A	G	17191019	2	3	22	1	0	0	0	0	0	0	0	1	11909	126	5	2		2	PIK3C2A	11	17191019	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72332	17191019	117815497	6031	11139										
KCNJ11	3767	hgsc.bcm.edu	37	chr11	17408630	17408630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtggtgtgggcactttgaCggtgttgccaaacttggagt	16	6	0	1	rs5215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:17408630C>T	ENST00000339994.4	-	1	1576	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.V250I	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	337			I -> V (linked to K-23; dbSNP:rs5215). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:16429405, ECO:0000269|PubMed:16554811, ECO:0000269|PubMed:8897013, ECO:0000269|PubMed:9032109}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGCACTTTGACGGTGTTGCCA	0.617											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	3659	0.730631	0.9546	0.7032	5008	,	,		20339	0.6617		0.6471	False		,,,				2504	0.6043				p.V337I		Atlas-SNP	.											.	KCNJ11	39	.	0			c.G1009A						PASS	.	T	ILE/VAL,ILE/VAL	4018,382	190.2+/-216.2	1833,352,15	165	145	152	http://www.ncbi.nlm.nih.gov/pubmed?term	1009,748	-6	0.8	11	dbSNP_52	152	5488,3098	473.5+/-368.6	1740,2008,545	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	29,29	3573,2360,560	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	36.082,8.6818,26.7981	benign,benign	337/391,250/304	17408630	9506,3480	2200	4293	6493	SO:0001583	missense	3767	exon1			CTTTGACGGTGTT	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1009G>A	11.37:g.17408630C>T	ENSP00000345708:p.Val337Ile	Somatic	207	0	0	717	WXS	Illumina HiSeq	Phase_I	229	227	0.991266	NM_000525	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	1573	0.7202380952380952	465	0.9451219512195121	250	0.6906077348066298	355	0.6206293706293706	503	0.6635883905013192	T	11.98	1.800702	0.31869	0.913182	0.63918	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.94138	-3.36;-3.36	5.43	-5.99	0.02213	.	0.498835	0.19829	N	0.105135	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.11235	0.004	B	0.13407	0.009	T	0.54754	-0.8246	8	0.48119	T	0.1	.	21.9712	0.99964	0.0:0.8139:0.0:0.1861	rs5215;rs56731467;rs5215	337	B2RC52	.	I	337;250	ENSP00000345708:V337I;ENSP00000434755:V250I	ENSP00000345708:V337I	V	-	1	0	KCNJ11	17365206	0.007000	0.16637	0.778000	0.31720	0.975000	0.68041	-0.140000	0.10342	-1.420000	0.02009	-0.361000	0.07541	GTC	C|0.272;T|0.728	0.728	strong		0.617	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		T	17408630	C	T	17408630	3	4	22	1	0	0	0	0	1	0	0	0	8045	536	19	1	167	1	KCNJ11	11	17408630	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	217611	17408630	117597886	6032	11140										
ABCC8	6833	hgsc.bcm.edu	37	chr11	17419279	17419279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggccagcagagagctcCctgtgcagggagttggagat	15	10	0	2	rs1799859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:17419279C>T	ENST00000389817.3	-	31	3887	c.3819G>A	c.(3817-3819)agG>agA	p.R1273R	ABCC8_ENST00000302539.4_Silent_p.R1274R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1273	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAGAGAGCTCCCTGTGCAGGG	0.652													C|||	1958	0.390974	0.77	0.4236	5008	,	,		18243	0.0873		0.2704	False		,,,				2504	0.2924				p.R1273R		Atlas-SNP	.											.	ABCC8	170	.	0			c.G3819A	GRCh37	CM981881	ABCC8	M	rs1799859	PASS	.	C		3006,1394	686.5+/-404.7	1022,962,216	90	84	86		3819	-0.4	1	11	dbSNP_89	86	2314,6272	389.5+/-342.9	307,1700,2286	no	coding-synonymous	ABCC8	NM_000352.3		1329,2662,2502	TT,TC,CC		26.9509,31.6818,40.9672		1273/1582	17419279	5320,7666	2200	4293	6493	SO:0001819	synonymous_variant	6833	exon31			GAGCTCCCTGTGC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3819G>A	11.37:g.17419279C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1	723	0.33104395604395603	322	0.6544715447154471	144	0.39779005524861877	56	0.0979020979020979	201	0.26517150395778366	C	9.687	1.150834	0.21371	0.683182	0.269509	ENSG00000006071	ENST00000528374	.	.	.	5.12	-0.368	0.12537	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27281	P	0.9580932	.	.	.	.	.	.	T	0.35549	-0.9784	3	.	.	.	.	0.9041	0.01281	0.1595:0.2632:0.1952:0.3822	rs1799859;rs2229689;rs4148643;rs12787564;rs17846763;rs57092202;rs1799859	.	.	.	R	97	.	.	G	-	1	0	ABCC8	17375855	0.983000	0.35010	0.977000	0.42913	0.974000	0.67602	0.311000	0.19380	0.034000	0.15491	0.555000	0.69702	GGA	C|0.611;T|0.389	0.389	strong		0.652	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		T	17419279	C	T	17419279	2	4	22	1	0	0	0	0	0	0	0	1	58	622	22	2		2	ABCC8	11	17419279	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10649	17419279	117587237	6033	11141										
USH1C	10083	hgsc.bcm.edu	37	chr11	17531057	17531057	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcgccgagggcagtgggCgggtgggagtgaggtcttgg	22	8	1	1	rs139996942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:17531057C>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.R620L|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGGCAGTGGGCGGGTGGGAGT	0.637													C|||	55	0.0109824	0.0401	0.0029	5008	,	,		9520	0.0		0.0	False		,,,				2504	0.0				p.R620L		Atlas-SNP	.											USH1C,NS,carcinoma,-1,2	USH1C	157	2	0			c.G1859T	GRCh37	CM024263	ush1cpst	M	rs139996942	scavenged	.	C	,LEU/ARG	139,4261	97.6+/-136.3	3,133,2064	46	46	46		,1859	5.9	1	11	dbSNP_134	46	1,8585	1.2+/-3.3	0,1,4292	yes	intron,missense	USH1C	NM_005709.3,NM_153676.3	,102	3,134,6356	AA,AC,CC		0.0116,3.1591,1.0781	,benign	,620/900	17531057	140,12846	2200	4293	6493	SO:0001627	intron_variant	10083	exon18			AGTGGGCGGGTGG	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7530G>T	11.37:g.17531057C>A		Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	124	64	0.516129	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	23	0.010531135531135532	21	0.042682926829268296	2	0.0055248618784530384	0	0.0	0	0.0	C	15.92	2.975208	0.53720	0.031591	1.16E-4	ENSG00000006611	ENST00000005226	T	0.37411	1.2	5.93	5.93	0.95920	.	0.378995	0.24557	N	0.037515	T	0.10165	0.0249	.	.	.	0.27896	N	0.93916	D	0.54207	0.965	B	0.44224	0.444	T	0.22277	-1.0221	9	0.66056	D	0.02	.	11.2233	0.48869	0.0:0.9172:0.0:0.0828	.	620	Q7RTU8	.	L	620	ENSP00000005226:R620L	ENSP00000005226:R620L	R	-	2	0	USH1C	17487633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.046000	0.30354	2.814000	0.96858	0.591000	0.81541	CGC	C|0.988;A|0.012	0.012	strong		0.637	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		A	17531057	C	A	17531057	1	1	22	0	1	0	0	0	0	0	0	0	17031	768	27	4		4	USH1C	11	17531057	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111778	17531057	117475459	6034	11142										
MRGPRX3	117195	hgsc.bcm.edu	37	chr11	18159406	18159406	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgtacgtgaccatcctCctcacagtgctggtcttcct	9	14	2	1	rs28628238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18159406C>G	ENST00000396275.2	+	3	1018	c.657C>G	c.(655-657)ctC>ctG	p.L219L		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACCATCCTCCTCACAGTGC	0.542													.|||	273	0.0545128	0.1952	0.0216	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0				p.L219L		Atlas-SNP	.											.	MRGPRX3	59	.	0			c.C657G						PASS	.	G		816,3584	748.0+/-411.9	83,650,1467	113	107	109		657	1.3	0.3	11	dbSNP_125	109	5,8581	818.5+/-406.9	0,5,4288	no	coding-synonymous	MRGPRX3	NM_054031.3		83,655,5755	GG,GC,CC		0.0582,18.5455,6.3222		219/323	18159406	821,12165	2200	4293	6493	SO:0001819	synonymous_variant	117195	exon3			CATCCTCCTCACA		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.657C>G	11.37:g.18159406C>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	CCDS7830.1																																																																																			C|0.948;G|0.052	0.052	strong		0.542	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		G	18159406	C	G	18159406	2	3	22	1	0	0	0	0	0	0	0	1	9768	842	30	4		4	MRGPRX3	11	18159406	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	628349	18159406	116847110	6035	11143										
SAA1	6288	hgsc.bcm.edu	37	chr11	18290866	18290866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacctgggggtgcctgggcTgcagaagtgatcacgtaact	16	9	1	2	rs1136745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18290866T>C	ENST00000405158.2	+	3	400	c.216T>C	c.(214-216)gcT>gcC	p.A72A	RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000532858.1_Silent_p.A72A|SAA1_ENST00000356524.4_Silent_p.A72A	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	72					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.A72A(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GTGCCTGGGCTGCAGAAGTGA	0.562																																					p.A72A		Atlas-SNP	.											SAA1,NS,carcinoma,0,1	SAA1	14	1	1	Substitution - coding silent(1)	stomach(1)	c.T216C						scavenged	.						20	21	20					11																	18290866		2190	4260	6450	SO:0001819	synonymous_variant	6288	exon3			CTGGGCTGCAGAA	M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.216T>C	11.37:g.18290866T>C		Somatic	138	14	0.101449		WXS	Illumina HiSeq	Phase_I	129	22	0.170543	NM_199161	P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	ENST00000405158.2	37	CCDS7835.1																																																																																			C|1.000;|0.000	1.000	weak		0.562	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		C	18290866	T	C	18290866	2	2	22	1	0	0	0	0	0	0	0	1	13798	1567	55	3		3	SAA1	11	18290866	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	131460	18290866	116715650	6036	11144										
HPS5	11234	hgsc.bcm.edu	37	chr11	18327684	18327684	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccatacaaatcgttacctGagagtaatcacagggagagg	11	8	1	2	rs1140047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18327684G>T	ENST00000349215.3	-	7	1099	c.822C>A	c.(820-822)ctC>ctA	p.L274L	HPS5_ENST00000396253.3_Silent_p.L160L|HPS5_ENST00000531848.1_Silent_p.L160L|HPS5_ENST00000438420.2_Silent_p.L160L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	274					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCGTTACCTGAGAGTAATCA	0.398									Hermansky-Pudlak syndrome				T|||	4030	0.804712	0.7852	0.7536	5008	,	,		18638	0.9722		0.7107	False		,,,				2504	0.7914				p.L274L		Atlas-SNP	.											.	HPS5	70	.	0			c.C822A						PASS	.	T	,,	3367,1031	381.4+/-324.0	1287,793,119	78	77	77		480,822,480	1.8	0.9	11	dbSNP_86	77	5881,2705	433.5+/-357.4	2021,1839,433	no	coding-synonymous,coding-synonymous,coding-synonymous	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	,,	3308,2632,552	TT,TG,GG		31.5048,23.4425,28.7739	,,	160/1016,274/1130,160/1016	18327684	9248,3736	2199	4293	6492	SO:0001819	synonymous_variant	11234	exon7	Familial Cancer Database	HPS, HPS1-8	TTACCTGAGAGTA	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.822C>A	11.37:g.18327684G>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	169	71	0.420118	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			G|0.215;T|0.590	0.590	strong		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18327684	G	T	18327684	2	4	22	1	0	0	0	0	0	0	0	1	7342	1277	45	4		4	HPS5	11	18327684	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36818	18327684	116678832	6037	11145										
HPS5	11234	hgsc.bcm.edu	37	chr11	18330522	18330522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacacaagaaggatcgagtAagtgaagatataagtagcct	10	6	1	3	rs146455658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18330522A>G	ENST00000349215.3	-	6	859	c.582T>C	c.(580-582)ctT>ctC	p.L194L	HPS5_ENST00000438420.2_Silent_p.L80L|HPS5_ENST00000531848.1_Silent_p.L80L|HPS5_ENST00000396253.3_Silent_p.L80L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	194					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGATCGAGTAAGTGAAGATA	0.388									Hermansky-Pudlak syndrome				A|||	2	0.000399361	0.0008	0.0014	5008	,	,		16667	0.0		0.0	False		,,,				2504	0.0				p.L194L		Atlas-SNP	.											.	HPS5	70	.	0			c.T582C						PASS	.	A	,,	15,4383	22.3+/-47.3	0,15,2184	136	118	124		240,582,240	0.2	1	11	dbSNP_134	124	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	,,	0,15,6477	GG,GA,AA		0.0,0.3411,0.1155	,,	80/1016,194/1130,80/1016	18330522	15,12969	2199	4293	6492	SO:0001819	synonymous_variant	11234	exon6	Familial Cancer Database	HPS, HPS1-8	TCGAGTAAGTGAA	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.582T>C	11.37:g.18330522A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			A|0.999;G|0.001	0.001	strong		0.388	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		G	18330522	A	G	18330522	2	3	22	1	0	0	0	0	0	0	0	1	7342	349	13	2		2	HPS5	11	18330522	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2838	18330522	116675994	6038	11146										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18729367	18729367	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacctgccacgcgcacatgGatgtcatagcgtgcttctcc	9	14	2	0	rs57253324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18729367G>T	ENST00000513874.1	-	20	3403	c.3264C>A	c.(3262-3264)atC>atA	p.I1088I	IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	693										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGCGCACATGGATGTCATAGC	0.532													G|||	553	0.110423	0.1778	0.1239	5008	,	,		21190	0.0615		0.0686	False		,,,				2504	0.1033				p.I1088I		Atlas-SNP	.											.	IGSF22	211	.	0			c.C3264A						PASS	.	G		237,1147		17,203,472	152	124	133		3264	3	0	11	dbSNP_129	133	218,2964		7,204,1380	no	coding-synonymous	IGSF22	NM_173588.3		24,407,1852	TT,TG,GG		6.851,17.1243,9.965		1088/1327	18729367	455,4111	692	1591	2283	SO:0001819	synonymous_variant	283284	exon20			CACATGGATGTCA	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3264C>A	11.37:g.18729367G>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																			G|0.901;T|0.099	0.099	strong		0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		T	18729367	G	T	18729367	2	4	22	1	0	0	0	0	0	0	0	1	7600	1164	41	4		4	IGSF22	11	18729367	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	398845	18729367	116277149	6039	11147										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18731905	18731905	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggccactactgagctggaTggcacactgggctgtccagg	14	11	0	1	rs114511413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18731905T>A	ENST00000513874.1	-	17	2809	c.2670A>T	c.(2668-2670)ccA>ccT	p.P890P	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	888	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGCTGGATGGCACACTGG	0.493													T|||	67	0.0133786	0.0484	0.0043	5008	,	,		20918	0.0		0.0	False		,,,				2504	0.0				p.P890P		Atlas-SNP	.											.	IGSF22	211	.	0			c.A2670T						PASS	.	T		123,3791		3,117,1837	119	119	119		2670	-0.4	0.2	11	dbSNP_132	119	3,8295		0,3,4146	no	coding-synonymous	IGSF22	NM_173588.3		3,120,5983	AA,AT,TT		0.0362,3.1426,1.0318		890/1327	18731905	126,12086	1957	4149	6106	SO:0001819	synonymous_variant	283284	exon17			GCTGGATGGCACA	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2670A>T	11.37:g.18731905T>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	110	53	0.481818	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																			T|0.991;A|0.009	0.009	strong		0.493	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18731905	T	A	18731905	2	1	22	1	0	0	0	0	0	0	0	1	7600	1451	51	5		5	IGSF22	11	18731905	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2538	18731905	116274611	6040	11148										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18735480	18735480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaggccgctgtcttcacGcacacagttggagatggtga	14	9	2	3	rs111397851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18735480G>A	ENST00000513874.1	-	14	2153	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGTCTTCACGCACACAGTTG	0.602													g|||	236	0.0471246	0.1415	0.0317	5008	,	,		23327	0.0		0.0258	False		,,,				2504	0.001				p.R672C		Atlas-SNP	.											.	IGSF22	211	.	0			c.C2014T						PASS	.		CYS/ARG	491,3899	207.2+/-228.6	24,443,1728	88	95	93		2014	1	0	11	dbSNP_132	93	219,8353	90.4+/-152.6	3,213,4070	yes	missense	IGSF22	NM_173588.3	180	27,656,5798	AA,AG,GG		2.5548,11.1845,5.4775	probably-damaging	672/1327	18735480	710,12252	2195	4286	6481	SO:0001583	missense	283284	exon14			CTTCACGCACACA	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2014C>T	11.37:g.18735480G>A	ENSP00000421191:p.Arg672Cys	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	194	107	0.551546	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	94	0.04304029304029304	61	0.12398373983739837	15	0.04143646408839779	0	0.0	18	0.023746701846965697	G	11.60	1.686151	0.29962	0.111845	0.025548	ENSG00000179057	ENST00000513874	T	0.46063	0.88	3.98	0.959	0.19624	.	0.000000	0.33327	U	0.005033	T	0.02418	0.0074	H	0.97896	4.1	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.16129	-1.0413	10	0.62326	D	0.03	.	3.8194	0.08828	0.1944:0.0:0.384:0.4215	.	672	D6RGV7	.	C	672	ENSP00000421191:R672C	ENSP00000322422:R672C	R	-	1	0	IGSF22	18692056	0.003000	0.15002	0.002000	0.10522	0.321000	0.28281	0.178000	0.16820	0.027000	0.15297	0.448000	0.29417	CGT	G|0.961;A|0.039	0.039	strong		0.602	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18735480	G	A	18735480	3	1	22	1	0	0	0	0	1	0	0	0	7600	1087	38	1	2006	1	IGSF22	11	18735480	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3575	18735480	116271036	6041	11149										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18735947	18735947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctgcttcacaatctgcaTgcctggcaagtccgtgatct	8	14	3	1	rs386751189|rs7125943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18735947T>C	ENST00000513874.1	-	13	1814	c.1675A>G	c.(1675-1677)Atg>Gtg	p.M559V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	559			M -> V (in dbSNP:rs7125943). {ECO:0000269|PubMed:14702039}.							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACAATCTGCATGCCTGGCAAG	0.602													C|||	3787	0.75619	0.851	0.7075	5008	,	,		20261	0.8125		0.7783	False		,,,				2504	0.5818				p.M559V		Atlas-SNP	.											.	IGSF22	211	.	0			c.A1675G						PASS	.	C	VAL/MET	3391,765		1383,625,70	101	107	105		1675	-2.1	0	11	dbSNP_116	105	6295,2107		2362,1571,268	yes	missense	IGSF22	NM_173588.3	21	3745,2196,338	CC,CT,TT		25.0774,18.4071,22.8699	benign	559/1327	18735947	9686,2872	2078	4201	6279	SO:0001583	missense	283284	exon13			TCTGCATGCCTGG	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1675A>G	11.37:g.18735947T>C	ENSP00000421191:p.Met559Val	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	1730	0.7921245421245421	418	0.8495934959349594	266	0.7348066298342542	461	0.8059440559440559	585	0.7717678100263852	C	0.003	-2.461414	0.00171	0.815929	0.749226	ENSG00000179057	ENST00000513874	T	0.37915	1.17	4.42	-2.12	0.07165	.	0.599024	0.12707	N	0.445853	T	0.00012	0.0000	N	0.00778	-1.195	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	9	0.12766	T	0.61	.	11.1401	0.48398	0.0:0.2996:0.0:0.7004	rs7125943;rs52828196;rs57257526;rs7125943	559	D6RGV7	.	V	559	ENSP00000421191:M559V	ENSP00000322422:M559V	M	-	1	0	IGSF22	18692523	0.001000	0.12720	0.001000	0.08648	0.392000	0.30506	-0.173000	0.09854	-0.897000	0.03910	-0.954000	0.02651	ATG	T|0.224;C|0.776	0.776	strong		0.602	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		C	18735947	T	C	18735947	3	2	22	1	0	0	0	0	1	0	0	0	7600	1464	51	2	2349	2	IGSF22	11	18735947	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	467	18735947	116270569	6042	11150										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18737095	18737095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaatgatcagctctgctCgcttgccctcatggttcatg	8	14	5	1	rs4424652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18737095C>T	ENST00000513874.1	-	11	1554	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	472	Ig-like 3.		R -> Q (in dbSNP:rs4424652). {ECO:0000269|PubMed:14702039}.							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGCTCTGCTCGCTTGCCCTC	0.537													C|||	3753	0.749401	0.829	0.7032	5008	,	,		22546	0.8125		0.7734	False		,,,				2504	0.5849				p.R472Q		Atlas-SNP	.											.	IGSF22	211	.	0			c.G1415A						PASS	.	C	GLN/ARG	3470,926	703.4+/-407.0	1375,720,103	132	128	130		1415	2.5	0.8	11	dbSNP_111	130	6358,2218	695.6+/-404.8	2352,1654,282	yes	missense	IGSF22	NM_173588.3	43	3727,2374,385	TT,TC,CC		25.8629,21.0646,24.2368	probably-damaging	472/1327	18737095	9828,3144	2198	4288	6486	SO:0001583	missense	283284	exon11			TCTGCTCGCTTGC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1415G>A	11.37:g.18737095C>T	ENSP00000421191:p.Arg472Gln	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	179	179	1	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	1712	0.7838827838827839	405	0.823170731707317	264	0.7292817679558011	461	0.8059440559440559	582	0.7678100263852242	C	8.657	0.899532	0.17686	0.789354	0.741371	ENSG00000179057	ENST00000513874	T	0.67523	-0.27	4.79	2.53	0.30540	.	0.000000	0.32785	N	0.005652	T	0.00012	0.0000	L	0.33293	1	0.47905	P	4.509999999999792E-4	P	0.34800	0.469	B	0.21546	0.035	T	0.33701	-0.9858	9	0.31617	T	0.26	.	5.0144	0.14328	0.0:0.6128:0.1612:0.226	rs4424652;rs52801068;rs4424652	472	D6RGV7	.	Q	472	ENSP00000421191:R472Q	ENSP00000322422:R472Q	R	-	2	0	IGSF22	18693671	0.967000	0.33354	0.814000	0.32528	0.595000	0.36748	1.983000	0.40648	0.249000	0.21456	0.455000	0.32223	CGA	C|0.231;N|0.000	.	strong		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		T	18737095	C	T	18737095	3	4	22	1	0	0	0	0	1	0	0	0	7600	884	31	1	2617	1	IGSF22	11	18737095	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1148	18737095	116269421	6043	11151										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18738281	18738281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaaccactcacggtcaaCagtgagctgggccttttgta	10	13	2	1	rs10766494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18738281C>T	ENST00000513874.1	-	10	1379	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	414			V -> I (in dbSNP:rs10766494). {ECO:0000269|PubMed:14702039}.							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCACGGTCAACAGTGAGCTGG	0.522													T|||	3751	0.749002	0.8298	0.7032	5008	,	,		20180	0.8125		0.7724	False		,,,				2504	0.5828				p.V414I		Atlas-SNP	.											.	IGSF22	211	.	0			c.G1240A						PASS	.	T	ILE/VAL	3124,792		1252,620,86	95	93	94		1240	3.8	0.9	11	dbSNP_120	94	6169,2135		2291,1587,274	yes	missense	IGSF22	NM_173588.3	29	3543,2207,360	TT,TC,CC		25.7105,20.2247,23.9525	benign	414/1327	18738281	9293,2927	1958	4152	6110	SO:0001583	missense	283284	exon10			GGTCAACAGTGAG	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1240G>A	11.37:g.18738281C>T	ENSP00000421191:p.Val414Ile	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	1711	0.7834249084249084	405	0.823170731707317	264	0.7292817679558011	461	0.8059440559440559	581	0.7664907651715039	T	7.426	0.637650	0.14386	0.797753	0.742895	ENSG00000179057	ENST00000513874	T	0.62788	0.0	4.88	3.75	0.43078	.	0.210848	0.23519	N	0.047319	T	0.00012	0.0000	M	0.80183	2.485	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.27571	-1.0070	9	0.37606	T	0.19	.	7.7518	0.28901	0.0:0.1664:0.0:0.8336	rs10766494;rs57990712;rs10766494	414	D6RGV7	.	I	414	ENSP00000421191:V414I	ENSP00000322422:V414I	V	-	1	0	IGSF22	18694857	0.975000	0.34042	0.895000	0.35142	0.719000	0.41307	1.514000	0.35834	0.237000	0.21200	-0.254000	0.11334	GTT	C|0.232;T|0.768	0.768	strong		0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		T	18738281	C	T	18738281	3	4	22	1	0	0	0	0	1	0	0	0	7600	478	17	2	2796	2	IGSF22	11	18738281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1186	18738281	116268235	6044	11152										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18743529	18743529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcagggatgtttgagcTccgggtcactaagctgaaga	14	10	1	3	rs115954314	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18743529T>C	ENST00000513874.1	-	3	308	c.169A>G	c.(169-171)Agc>Ggc	p.S57G	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	57										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATGTTTGAGCTCCGGGTCACT	0.627											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	34	0.00678914	0.025	0.0014	5008	,	,		17155	0.0		0.0	False		,,,				2504	0.0				p.S57G		Atlas-SNP	.											.	IGSF22	211	.	0			c.A169G						PASS	.	T	GLY/SER	74,3986		0,74,1956	74	81	79		169	3	0	11	dbSNP_132	79	1,8327		0,1,4163	yes	missense	IGSF22	NM_173588.3	56	0,75,6119	CC,CT,TT		0.012,1.8227,0.6054	possibly-damaging	57/1327	18743529	75,12313	2030	4164	6194	SO:0001583	missense	283284	exon3			TTGAGCTCCGGGT	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.169A>G	11.37:g.18743529T>C	ENSP00000421191:p.Ser57Gly	Somatic	50	0	0	90	WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	T	13.41	2.229888	0.39399	0.018227	1.2E-4	ENSG00000179057	ENST00000513874	T	0.53640	0.61	4.23	3.05	0.35203	.	0.206612	0.23787	U	0.044561	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.08700	-1.0709	10	0.28530	T	0.3	.	5.4317	0.16456	0.1745:0.0:0.1813:0.6442	.	57	D6RGV7	.	G	57	ENSP00000421191:S57G	ENSP00000322422:S57G	S	-	1	0	IGSF22	18700105	0.780000	0.28664	0.001000	0.08648	0.989000	0.77384	2.349000	0.44054	0.471000	0.27319	0.533000	0.62120	AGC	T|0.992;C|0.008	0.008	strong		0.627	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		C	18743529	T	C	18743529	3	2	22	1	0	0	0	0	1	0	0	0	7600	1551	54	3	3895	3	IGSF22	11	18743529	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5248	18743529	116262987	6045	11153										
PTPN5	84867	hgsc.bcm.edu	37	chr11	18751041	18751041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtcttcaggatgtccacCacaccctcctgccgcagctg	10	16	2	0	rs1550870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18751041C>T	ENST00000358540.2	-	14	1993	c.1563G>A	c.(1561-1563)gtG>gtA	p.V521V	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Silent_p.V489V|PTPN5_ENST00000396168.1_Silent_p.V497V|PTPN5_ENST00000396167.2_Silent_p.V489V|PTPN5_ENST00000477854.1_Silent_p.V325V|PTPN5_ENST00000396171.4_Silent_p.V521V|PTPN5_ENST00000396166.3_Silent_p.V127V	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	521	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGATGTCCACCACACCCTCCT	0.667													C|||	1590	0.317492	0.3185	0.3055	5008	,	,		15381	0.2619		0.4423	False		,,,				2504	0.2536				p.V521V		Atlas-SNP	.											.	PTPN5	163	.	0			c.G1563A						PASS	.	C	,,	1410,2988	454.2+/-350.6	239,932,1028	47	46	46		1467,1563,1563	3.3	1	11	dbSNP_88	46	3945,4641	539.1+/-383.5	925,2095,1273	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN5	NM_001039970.1,NM_006906.1,NM_032781.3	,,	1164,3027,2301	TT,TC,CC		45.9469,32.06,41.2431	,,	489/534,521/566,521/566	18751041	5355,7629	2199	4293	6492	SO:0001819	synonymous_variant	84867	exon14			GTCCACCACACCC	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1563G>A	11.37:g.18751041C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	59	28	0.474576	NM_032781	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	CCDS7845.1																																																																																			C|0.633;T|0.367	0.367	strong		0.667	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		T	18751041	C	T	18751041	2	4	22	1	0	0	0	0	0	0	0	1	12791	581	21	2		2	PTPN5	11	18751041	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7512	18751041	116255475	6046	11154										
MRGPRX1	259249	hgsc.bcm.edu	37	chr11	18955744	18955744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatcctgatcagcaggacCaggctggacccacagagaac	11	12	1	3	rs11599929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:18955744C>T	ENST00000302797.3	-	1	812	c.588G>A	c.(586-588)ctG>ctA	p.L196L	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	196					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L196L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCAGGACCAGGCTGGACC	0.522													C|||	1479	0.295327	0.2769	0.2695	5008	,	,		24177	0.3879		0.2237	False		,,,				2504	0.317				p.L196L		Atlas-SNP	.											MRGPRX1,NS,carcinoma,0,1	MRGPRX1	84	1	1	Substitution - coding silent(1)	stomach(1)	c.G588A						scavenged	.	C		1209,3179		61,1087,1046	118	101	107		588	1.4	0.3	11	dbSNP_120	107	1862,6710		49,1764,2473	no	coding-synonymous	MRGPRX1	NM_147199.3		110,2851,3519	TT,TC,CC		21.7219,27.5524,23.696		196/323	18955744	3071,9889	2194	4286	6480	SO:0001819	synonymous_variant	259249	exon1			CAGGACCAGGCTG		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.588G>A	11.37:g.18955744C>T		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	159	101	0.63522	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	CCDS7846.1																																																																																			C|0.741;T|0.259	0.259	strong		0.522	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		T	18955744	C	T	18955744	2	4	22	1	0	0	0	0	0	0	0	1	9766	581	21	2		2	MRGPRX1	11	18955744	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	204703	18955744	116050772	6047	11155										
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077755	19077755	+	Silent	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggctgaggacgtagacAgagaaggcgttcctgcgcat					rs11024969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:19077755A>C	ENST00000329773.2	-	2	282	c.195T>G	c.(193-195)tcT>tcG	p.S65S		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	65					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S65S(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGACGTAGACAGAGAAGGCGT	0.557													A|||	566	0.113019	0.1944	0.036	5008	,	,		18324	0.1468		0.0656	False		,,,				2504	0.0716				p.S65S	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											MRGPRX2,NS,carcinoma,0,1	MRGPRX2	42	1	1	Substitution - coding silent(1)	stomach(1)	c.T195G						PASS	.	A		701,3697		61,579,1559	84	92	89		195	-4.8	0	11	dbSNP_120	89	428,8158		7,414,3872	no	coding-synonymous	MRGPRX2	NM_054030.2		68,993,5431	CC,CA,AA		4.9849,15.9391,8.6953		65/331	19077755	1129,11855	2199	4293	6492	SO:0001819	synonymous_variant	117194	exon2			GTAGACAGAGAAG		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.195T>G	11.37:g.19077755A>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	99	45	0.454545	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	CCDS7847.1																																																																																			A|0.900;C|0.100	0.100	strong		0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		C	19077755	A	C	19077755	2	2	22	1	0	0	0	0	0	0	0	1	9767	175	7	5		5	MRGPRX2	11	19077755	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	122011	19077755	115928761	6048	11156	227	2								
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077765	19077765	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacgtagacagagaaggcgTtcctgcgcatgcggaagccc					rs10833049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:19077765T>C	ENST00000329773.2	-	2	272	c.185A>G	c.(184-186)aAc>aGc	p.N62S		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049). {ECO:0000269|PubMed:15862286, ECO:0000269|Ref.5}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.N62S(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAGAAGGCGTTCCTGCGCAT	0.562													T|||	1595	0.31849	0.5265	0.2781	5008	,	,		17944	0.2659		0.2614	False		,,,				2504	0.1789				p.N62S	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											MRGPRX2,NS,carcinoma,0,1	MRGPRX2	42	1	1	Substitution - Missense(1)	stomach(1)	c.A185G						PASS	.	T	SER/ASN	2074,2324		504,1066,629	82	90	87		185	1.4	0	11	dbSNP_120	87	2283,6303		301,1681,2311	yes	missense	MRGPRX2	NM_054030.2	46	805,2747,2940	CC,CT,TT		26.5898,47.1578,33.5567	probably-damaging	62/331	19077765	4357,8627	2199	4293	6492	SO:0001583	missense	117194	exon2			AAGGCGTTCCTGC		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.185A>G	11.37:g.19077765T>C	ENSP00000333800:p.Asn62Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	101	45	0.445545	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	690	0.3159340659340659	257	0.5223577235772358	102	0.281767955801105	142	0.24825174825174826	189	0.24934036939313983	.	14.37	2.515471	0.44763	0.471578	0.265898	ENSG00000183695	ENST00000329773	T	0.09073	3.02	5.14	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.079983	0.52532	D	0.000064	T	0.00012	0.0000	L	0.58428	1.81	0.80722	P	0.0	D	0.56521	0.976	P	0.57283	0.817	T	0.48570	-0.9024	9	0.66056	D	0.02	.	2.9449	0.05842	0.1426:0.0803:0.1486:0.6285	rs10833049;rs52795288;rs60268974;rs10833049	62	Q96LB1	MRGX2_HUMAN	S	62	ENSP00000333800:N62S	ENSP00000333800:N62S	N	-	2	0	MRGPRX2	19034341	0.172000	0.23043	0.001000	0.08648	0.447000	0.32167	0.390000	0.20768	0.130000	0.18549	0.533000	0.62120	AAC	C|0.329;G|0.000;T|0.671	0.329	strong		0.562	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		C	19077765	T	C	19077765	3	2	22	1	0	0	0	0	1	0	0	0	9767	1725	60	2	811	2	MRGPRX2	11	19077765	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10	19077765	115928751	6049	11157	227	2								
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077904	19077904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggcttggtcatttccatTcactgttgtactttctgttc	8	9	3	0	rs11024970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:19077904T>G	ENST00000329773.2	-	2	133	c.46A>C	c.(46-48)Aat>Cat	p.N16H		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	16			N -> H (in dbSNP:rs11024970). {ECO:0000269|PubMed:15862286}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCATTTCCATTCACTGTTGTA	0.532													T|||	566	0.113019	0.1944	0.036	5008	,	,		18231	0.1468		0.0656	False		,,,				2504	0.0716				p.N16H	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											.	MRGPRX2	42	.	0			c.A46C						PASS	.	T	HIS/ASN	702,3696		61,580,1558	192	208	203		46	3.9	0	11	dbSNP_120	203	428,8158		7,414,3872	yes	missense	MRGPRX2	NM_054030.2	68	68,994,5430	GG,GT,TT		4.9849,15.9618,8.703	probably-damaging	16/331	19077904	1130,11854	2199	4293	6492	SO:0001583	missense	117194	exon2			TTCCATTCACTGT		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.46A>C	11.37:g.19077904T>G	ENSP00000333800:p.Asn16His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	118	53	0.449153	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	219	0.10027472527472528	92	0.18699186991869918	14	0.03867403314917127	67	0.11713286713286714	46	0.06068601583113457	.	15.60	2.882651	0.51908	0.159618	0.049849	ENSG00000183695	ENST00000329773	T	0.06687	3.27	5.04	3.91	0.45181	.	1.260630	0.05164	N	0.498462	T	0.00039	0.0001	L	0.54323	1.7	0.80722	P	0.0	P	0.50617	0.937	P	0.58266	0.836	T	0.13150	-1.0520	9	0.72032	D	0.01	.	6.4342	0.21815	0.0:0.1872:0.0:0.8128	rs11024970;rs52815501;rs59607758;rs11024970	16	Q96LB1	MRGX2_HUMAN	H	16	ENSP00000333800:N16H	ENSP00000333800:N16H	N	-	1	0	MRGPRX2	19034480	0.000000	0.05858	0.048000	0.18961	0.032000	0.12392	0.063000	0.14410	1.052000	0.40392	0.533000	0.62120	AAT	T|0.899;G|0.101	0.101	strong		0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		G	19077904	T	G	19077904	3	3	22	1	0	0	0	0	1	0	0	0	9767	1783	62	5	950	5	MRGPRX2	11	19077904	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139	19077904	115928612	6050	11158										
NAV2	89797	hgsc.bcm.edu	37	chr11	19735325	19735325	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcccatcctgcacgtgccCccggcccgggcgggccccca	13	22	0	0	rs11828836	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:19735325C>A	ENST00000396087.3	+	1	183	c.84C>A	c.(82-84)ccC>ccA	p.P28P	RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396085.1_Silent_p.P28P|NAV2_ENST00000349880.4_Silent_p.P28P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	28					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						TGCACGTgcccccggcccggg	0.662													C|||	112	0.0223642	0.0825	0.0043	5008	,	,		13608	0.0		0.0	False		,,,				2504	0.0				p.P28P		Atlas-SNP	.											.	NAV2	255	.	0			c.C84A						PASS	.	C	,,	269,4121		8,253,1934	20	22	21		,84,84	4.4	1	11	dbSNP_120	21	5,8571		0,5,4283	no	intron,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	8,258,6217	AA,AC,CC		0.0583,6.1276,2.1132	,,	,28/2430,28/2433	19735325	274,12692	2195	4288	6483	SO:0001819	synonymous_variant	89797	exon1			CGTGCCCCCGGCC	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.84C>A	11.37:g.19735325C>A		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	38	28	0.736842	NM_145117	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.975;A|0.025	0.025	strong		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19735325	C	A	19735325	2	1	22	1	0	0	0	0	0	0	0	1	10184	610	22	4		4	NAV2	11	19735325	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	657421	19735325	115271191	6051	11159										
NAV2	89797	hgsc.bcm.edu	37	chr11	20067064	20067064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctggtcaaccaaacagaCaaggagaaaggcatctcatc	10	10	3	2	rs7125647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:20067064C>T	ENST00000396087.3	+	15	3918	c.3819C>T	c.(3817-3819)gaC>gaT	p.D1273D	NAV2_ENST00000360655.4_Silent_p.D1186D|NAV2_ENST00000527559.2_Silent_p.D1202D|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.D1204D|NAV2_ENST00000396085.1_Silent_p.D1250D|NAV2_ENST00000349880.4_Silent_p.D1250D|NAV2_ENST00000311043.8_Silent_p.D336D|NAV2_ENST00000533917.1_Silent_p.D336D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1273					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						ACCAAACAGACAAGGAGAAAG	0.557													T|||	3317	0.66234	0.5983	0.6628	5008	,	,		19526	0.8313		0.5378	False		,,,				2504	0.7025				p.D1273D		Atlas-SNP	.											.	NAV2	255	.	0			c.C3819T						PASS	.	T	,,,	2696,1710	515.2+/-368.8	834,1028,341	68	65	66		3558,1008,3750,3750	-0.5	0.9	11	dbSNP_116	66	4672,3928	547.1+/-385.1	1261,2150,889	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	2095,3178,1230	TT,TC,CC		45.6744,38.8107,43.3492	,,,	1186/2366,336/1494,1250/2430,1250/2433	20067064	7368,5638	2203	4300	6503	SO:0001819	synonymous_variant	89797	exon15			AACAGACAAGGAG	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.3819C>T	11.37:g.20067064C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.384;T|0.616	0.616	strong		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20067064	C	T	20067064	2	4	22	1	0	0	0	0	0	0	0	1	10184	477	17	2		2	NAV2	11	20067064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	331739	20067064	114939452	6052	11160										
NAV2	89797	hgsc.bcm.edu	37	chr11	20070349	20070349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaattcggtggtcatctcCaatcctcatgccaccatgac	6	13	3	1	rs78806867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:20070349C>T	ENST00000396087.3	+	16	4146	c.4047C>T	c.(4045-4047)tcC>tcT	p.S1349S	NAV2_ENST00000360655.4_Silent_p.S1262S|NAV2_ENST00000527559.2_Silent_p.S1278S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.S1280S|NAV2_ENST00000396085.1_Silent_p.S1326S|NAV2_ENST00000349880.4_Silent_p.S1326S|NAV2_ENST00000311043.8_Silent_p.S412S|NAV2_ENST00000533917.1_Silent_p.S412S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1349					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						TGGTCATCTCCAATCCTCATG	0.522													C|||	63	0.0125799	0.0454	0.0014	5008	,	,		21187	0.0		0.002	False		,,,				2504	0.0				p.S1349S		Atlas-SNP	.											.	NAV2	255	.	0			c.C4047T						PASS	.	C	,,,	145,4261	101.2+/-139.8	5,135,2063	136	113	121		3786,1236,3978,3978	1.9	1	11	dbSNP_131	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	5,136,6362	TT,TC,CC		0.0116,3.291,1.1226	,,,	1262/2366,412/1494,1326/2430,1326/2433	20070349	146,12860	2203	4300	6503	SO:0001819	synonymous_variant	89797	exon16			CATCTCCAATCCT	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.4047C>T	11.37:g.20070349C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	155	76	0.490323	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.988;T|0.012	0.012	strong		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20070349	C	T	20070349	2	4	22	1	0	0	0	0	0	0	0	1	10184	581	21	2		2	NAV2	11	20070349	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3285	20070349	114936167	6053	11161										
DBX1	120237	hgsc.bcm.edu	37	chr11	20178717	20178717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcgacgcagcatgccccGccgaggcttcccgcgcgcgg	14	18	0	0	rs831464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:20178717G>T	ENST00000524983.2	-	3	826	c.538C>A	c.(538-540)Cgg>Agg	p.R180R	DBX1_ENST00000227256.3_Silent_p.R180R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	180					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AGCATGCCCCGCCGAGGCTTC	0.667													G|||	494	0.0986422	0.2405	0.0836	5008	,	,		11232	0.0198		0.0805	False		,,,				2504	0.0174				p.R180R		Atlas-SNP	.											DBX1,NS,carcinoma,0,1	DBX1	39	1	0			c.C538A						PASS	.	G		936,3464		105,726,1369	13	13	13		538	1.4	1	11	dbSNP_86	13	617,7969		26,565,3702	no	coding-synonymous	DBX1	NM_001029865.2		131,1291,5071	TT,TG,GG		7.1861,21.2727,11.959		180/344	20178717	1553,11433	2200	4293	6493	SO:0001819	synonymous_variant	120237	exon3			TGCCCCGCCGAGG			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.538C>A	11.37:g.20178717G>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	52	26	0.5	NM_001029865		Silent	SNP	ENST00000524983.2	37																																																																																				G|0.881;T|0.119	0.119	strong		0.667	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		T	20178717	G	T	20178717	2	4	22	1	0	0	0	0	0	0	0	1	4259	1086	38	4		4	DBX1	11	20178717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108368	20178717	114827799	6054	11162										
SLC6A5	9152	hgsc.bcm.edu	37	chr11	20622975	20622975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggacttgagagaggcgcaaGgcgcgcaggcctcgccccct	16	14	0	2	rs1443547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:20622975G>A	ENST00000525748.1	+	2	577	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	102			G -> S (in dbSNP:rs1443547). {ECO:0000269|PubMed:10381548}.		glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGAGGCGCAAGGCGCGCAGGC	0.701													G|||	2032	0.405751	0.447	0.3804	5008	,	,		14053	0.3651		0.3847	False		,,,				2504	0.4315				p.G102S		Atlas-SNP	.											.	SLC6A5	151	.	0			c.G304A						PASS	.	G	SER/GLY	1916,2474		441,1034,720	16	19	18		304	-4	0	11	dbSNP_88	18	2871,5697		529,1813,1942	no	missense	SLC6A5	NM_004211.3	56	970,2847,2662	AA,AG,GG		33.5084,43.6446,36.9424	benign	102/798	20622975	4787,8171	2195	4284	6479	SO:0001583	missense	9152	exon2			GCGCAAGGCGCGC	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.304G>A	11.37:g.20622975G>A	ENSP00000434364:p.Gly102Ser	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	806	0.36904761904761907	202	0.4105691056910569	126	0.34806629834254144	201	0.3513986013986014	277	0.3654353562005277	G	1.537	-0.542827	0.04053	0.436446	0.335084	ENSG00000165970	ENST00000525748	T	0.70631	-0.5	5.37	-3.96	0.04106	.	1.669100	0.02954	N	0.142135	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.13176	-1.0519	9	0.07175	T	0.84	.	6.8887	0.24216	0.5281:0.227:0.2449:0.0	rs1443547;rs1443547	102	Q9Y345	SC6A5_HUMAN	S	102	ENSP00000434364:G102S	ENSP00000298923:G102S	G	+	1	0	SLC6A5	20579551	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-0.675000	0.05227	-0.904000	0.03876	0.462000	0.41574	GGC	G|0.607;A|0.393	0.393	strong		0.701	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		A	20622975	G	A	20622975	3	1	22	1	0	0	0	0	1	0	0	0	14687	1000	35	2	310	2	SLC6A5	11	20622975	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	444258	20622975	114383541	6055	11163										
SLC6A5	9152	hgsc.bcm.edu	37	chr11	20652291	20652291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaagcatctttgccggcttCgtcatcttctccgttatcgg	8	13	4	0	rs143680068		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:20652291C>T	ENST00000525748.1	+	10	1827	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	518					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCGGCTTCGTCATCTTCT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23670	0.0		0.0	False		,,,				2504	0.0				p.F518F		Atlas-SNP	.											.	SLC6A5	151	.	0			c.C1554T						PASS	.	C		9,4397	15.5+/-35.6	0,9,2194	204	173	183		1554	-9.9	0.5	11	dbSNP_134	183	0,8600		0,0,4300	no	coding-synonymous	SLC6A5	NM_004211.3		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		518/798	20652291	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	9152	exon10			CGGCTTCGTCATC	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1554C>T	11.37:g.20652291C>T		Somatic	316	1	0.00316456		WXS	Illumina HiSeq	Phase_I	298	138	0.463087	NM_004211	O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																			C|1.000;T|0.000	0.000	strong		0.493	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		T	20652291	C	T	20652291	2	4	22	1	0	0	0	0	0	0	0	1	14687	883	31	1		1	SLC6A5	11	20652291	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29316	20652291	114354225	6056	11164										
NELL1	4745	hgsc.bcm.edu	37	chr11	21581805	21581805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatcaacctggcagggggCtttgactgtctctgcccctc	11	14	2	1	rs8176789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:21581805C>T	ENST00000357134.5	+	17	2009	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	NELL1_ENST00000532434.1_Silent_p.G572G|NELL1_ENST00000298925.5_Silent_p.G647G|NELL1_ENST00000325319.5_Silent_p.G562G|NELL1_ENST00000529218.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	619	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGCAGGGGGCTTTGACTGTC	0.522													C|||	2720	0.543131	0.2481	0.634	5008	,	,		20084	0.5774		0.8101	False		,,,				2504	0.5675				p.G619G		Atlas-SNP	.											.	NELL1	179	.	0			c.C1857T						PASS	.	C	,	1630,2776	501.0+/-364.9	307,1016,880	134	118	123		1857,1716	3.7	1	11	dbSNP_117	123	7040,1560	745.5+/-407.3	2899,1242,159	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	3206,2258,1039	TT,TC,CC		18.1395,36.995,33.3385	,	619/811,572/764	21581805	8670,4336	2203	4300	6503	SO:0001819	synonymous_variant	4745	exon17			AGGGGGCTTTGAC	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1857C>T	11.37:g.21581805C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	185	83	0.448649	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	CCDS7855.1																																																																																			C|0.342;T|0.658	0.658	strong		0.522	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21581805	C	T	21581805	2	4	22	1	0	0	0	0	0	0	0	1	10333	784	28	2		2	NELL1	11	21581805	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	929514	21581805	113424711	6057	11165										
GAS2	2620	hgsc.bcm.edu	37	chr11	22770669	22770669	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggtctttttaaaggtaTggtgtggagcctcctggttt	13	7	1	0	rs7122835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:22770669T>C	ENST00000454584.2	+	6	782	c.477T>C	c.(475-477)taT>taC	p.Y159Y	GAS2_ENST00000278187.3_Silent_p.Y159Y|GAS2_ENST00000433790.1_Silent_p.Y159Y	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	159					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTTAAAGGTATGGTGTGGAGC	0.378													t|||	80	0.0159744	0.059	0.0029	5008	,	,		18402	0.0		0.0	False		,,,				2504	0.0				p.Y159Y		Atlas-SNP	.											.	GAS2	46	.	0			c.T477C						PASS	.	C	,,	212,4194	128.6+/-165.4	5,202,1996	73	76	75		477,477,477	4.7	1	11	dbSNP_116	75	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS2	NM_001143830.1,NM_005256.3,NM_177553.2	,,	5,205,6292	CC,CT,TT		0.0349,4.8116,1.6533	,,	159/314,159/314,159/314	22770669	215,12789	2203	4299	6502	SO:0001819	synonymous_variant	2620	exon6			AAGGTATGGTGTG	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.477T>C	11.37:g.22770669T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	121	56	0.46281	NM_177553	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	ENST00000454584.2	37	CCDS7858.1																																																																																			T|0.988;C|0.012	0.012	strong		0.378	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		C	22770669	T	C	22770669	2	2	22	1	0	0	0	0	0	0	0	1	6245	1471	51	2		2	GAS2	11	22770669	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1188864	22770669	112235847	6058	11166										
SLC5A12	159963	hgsc.bcm.edu	37	chr11	26700344	26700344	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtaggagatcgagtaccaGgtatcagctattccaggtct	12	8	2	1	rs150900623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:26700344G>C	ENST00000396005.3	-	13	1803	c.1494C>G	c.(1492-1494)acC>acG	p.T498T		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	498					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCGAGTACCAGGTATCAGCTA	0.453													G|||	42	0.00838658	0.031	0.0014	5008	,	,		16935	0.0		0.0	False		,,,				2504	0.0				p.T498T		Atlas-SNP	.											.	SLC5A12	134	.	0			c.C1494G						PASS	.	G		75,3887		0,75,1906	116	114	115		1494	0.2	0.8	11	dbSNP_134	115	0,8338		0,0,4169	no	coding-synonymous	SLC5A12	NM_178498.3		0,75,6075	CC,CG,GG		0.0,1.893,0.6098		498/619	26700344	75,12225	1981	4169	6150	SO:0001819	synonymous_variant	159963	exon13			GTACCAGGTATCA	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1494C>G	11.37:g.26700344G>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	90	39	0.433333	NM_178498	Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																			G|0.994;C|0.006	0.006	strong		0.453	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		C	26700344	G	C	26700344	2	2	22	1	0	0	0	0	0	0	0	1	14664	987	35	4		4	SLC5A12	11	26700344	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3929675	26700344	108306172	6059	11167										
CCDC34	91057	hgsc.bcm.edu	37	chr11	27384449	27384466	+	In_Frame_Del	DEL	TCATCCACGTCTTCCTCA	TCATCCACGTCTTCCTCA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgaatcatgggcatctTcatccacgtcttcctcatca					rs368035683|rs138931796|rs377198931|rs3207371|rs558321598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCATCCACGTCTTCCTCA	TCATCCACGTCTTCCTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:27384449_27384466delTCATCCACGTCTTCCTCA	ENST00000328697.6	-	1	949_966	c.276_293delTGAGGAAGACGTGGATGA	c.(274-294)gatgaggaagacgtggatgaa>gaa	p.DEEDVD92del	CCDC34_ENST00000317945.6_In_Frame_Del_p.DEEDVD92del	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	92	Asp-rich.									endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ATGGGCATCTTCATCCACGTCTTCCTCATCATCCACGT	0.592														162	0.0323482	0.1097	0.0144	5008	,	,		19380	0.001		0.004	False		,,,				2504	0.002				p.93_98del		Pindel,Atlas-Indel	.											.	CCDC34	48	.	0			c.277_294del						PASS	.		,	353,3911		23,307,1802					,	0.9	0		dbSNP_134	173	50,8204		11,28,4088	no	coding,coding	CCDC34	NM_080654.2,NM_030771.1	,	34,335,5890	A1A1,A1R,RR		0.6058,8.2786,3.2194	,	,		403,12115				SO:0001651	inframe_deletion	91057	exon1			.	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.276_293delTGAGGAAGACGTGGATGA	11.37:g.27384449_27384466delTCATCCACGTCTTCCTCA	ENSP00000330240:p.Asp92_Asp97del	Somatic	294	.	.		WXS	Illumina HiSeq	Phase_I	215	39	0.181	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	In_Frame_Del	DEL	ENST00000328697.6	37	CCDS31448.1																																																																																			TCATCCACGTCTTCCTCA|0.966;-|0.034	0.034	strong		0.592	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		-	27384466	TCATCCACGTCTTCCTCA	-	27384449	7	5	22	1	0	1	0	1	0	0	0	0	2807	1783	62	0	936	0	CCDC34	11	27384449	In_Frame_Del	DEL	TCATCCACGTCTTCCTCA	TCGA-G8-6324-01A-11D-2210-10	684105	27384449	107622067	6060	11168										
LGR4	55366	hgsc.bcm.edu	37	chr11	27402475	27402475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggattaccatcaaatgctCcatcagggataacagaaata	8	8	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:27402475C>T	ENST00000379214.4	-	8	1240	c.797G>A	c.(796-798)gGa>gAa	p.G266E	LGR4_ENST00000389858.4_Missense_Mutation_p.G242E	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	266					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.G266V(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCAAATGCTCCATCAGGGAT	0.318																																					p.G266E		Atlas-SNP	.											LGR4,NS,NS,0,1	LGR4	87	1	1	Substitution - Missense(1)	NS(1)	c.G797A						scavenged	.						43	46	45					11																	27402475		2202	4292	6494	SO:0001583	missense	55366	exon8			AATGCTCCATCAG	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.797G>A	11.37:g.27402475C>T	ENSP00000368516:p.Gly266Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	177	2	0.0112994	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159291	0.57368	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.02345	4.34;4.33	5.55	4.64	0.57946	.	0.060171	0.64402	D	0.000002	T	0.08980	0.0222	L	0.41356	1.27	0.80722	D	1	B;D	0.71674	0.044;0.998	B;D	0.66716	0.067;0.946	T	0.21415	-1.0246	10	0.41790	T	0.15	.	14.4971	0.67698	0.0:0.929:0.0:0.071	.	242;266	G5E9B3;Q9BXB1	.;LGR4_HUMAN	E	266;242	ENSP00000368516:G266E;ENSP00000374508:G242E	ENSP00000368516:G266E	G	-	2	0	LGR4	27359051	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.792000	0.69052	1.336000	0.45506	0.460000	0.39030	GGA	.	.	none		0.318	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		T	27402475	C	T	27402475	3	4	22	1	0	0	0	0	1	0	0	0	8756	855	30	2	2102	2	LGR4	11	27402475	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18026	27402475	107604041	6061	11169										
BDNF	627	hgsc.bcm.edu	37	chr11	27679976	27679976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgccttgggcccattcaCgctctccagagtcccatggg	10	16	2	1	rs146354977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:27679976C>T	ENST00000525528.1	-	1	1229	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	BDNF_ENST00000438929.1_Missense_Mutation_p.V128M|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.V46M|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.V46M|BDNF_ENST00000533246.1_Missense_Mutation_p.V46M|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.V46M|BDNF_ENST00000439476.2_Missense_Mutation_p.V46M|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Missense_Mutation_p.V46M|BDNF_ENST00000533131.1_Missense_Mutation_p.V46M|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.V46M|BDNF_ENST00000395981.3_Missense_Mutation_p.V46M|BDNF_ENST00000420794.1_Missense_Mutation_p.V46M|BDNF_ENST00000395978.3_Missense_Mutation_p.V46M|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.V46M|BDNF_ENST00000395986.2_Missense_Mutation_p.V61M|BDNF_ENST00000356660.4_Missense_Mutation_p.V46M|BDNF_ENST00000314915.6_Missense_Mutation_p.V54M	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	46					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						GGCCCATTCACGCTCTCCAGA	0.547													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0				p.V128M		Atlas-SNP	.											.	BDNF	63	.	0			c.G382A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4403	2.1+/-5.4	0,1,2201	149	149	149		136,136,136,136,223,382,136,136,136,136,136,136,160,136,136,181,136	-1.7	1	11	dbSNP_134	149	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	BDNF	NM_001143805.1,NM_001143806.1,NM_001143807.1,NM_001143808.1,NM_001143809.1,NM_001143810.1,NM_001143811.1,NM_001143812.1,NM_001143813.1,NM_001143814.1,NM_001143816.1,NM_001709.4,NM_170731.4,NM_170732.4,NM_170733.3,NM_170734.3,NM_170735.5	21,21,21,21,21,21,21,21,21,21,21,21,21,21,21,21,21	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/248,46/248,46/248,46/248,75/277,128/330,46/248,46/248,46/248,46/248,46/248,46/248,54/256,46/248,46/248,61/263,46/248	27679976	1,13001	2202	4299	6501	SO:0001583	missense	627	exon3			CATTCACGCTCTC	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.136G>A	11.37:g.27679976C>T	ENSP00000437138:p.Val46Met	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	131	61	0.465649	NM_001143810	A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	CCDS7866.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	6.658	0.489860	0.12702	2.27E-4	0.0	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	6.16	-1.67	0.08238	.	0.752012	0.13050	N	0.417798	T	0.20495	0.0493	N	0.14661	0.345	0.26003	N	0.98209	B;B;B;B;B	0.19445	0.012;0.013;0.014;0.002;0.036	B;B;B;B;B	0.16722	0.016;0.002;0.01;0.003;0.01	T	0.20306	-1.0279	10	0.87932	D	0	-29.8815	9.1961	0.37228	0.0:0.2875:0.1522:0.5603	.	75;128;54;46;61	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	M	46;46;61;46;46;46;46;46;46;128;46;46;46;46;46;54;46;46	ENSP00000389345:V46M;ENSP00000437138:V46M;ENSP00000379309:V61M;ENSP00000432727:V46M;ENSP00000349084:V46M;ENSP00000400502:V46M;ENSP00000432376:V46M;ENSP00000435564:V46M;ENSP00000379307:V46M;ENSP00000414303:V128M;ENSP00000379304:V46M;ENSP00000435805:V46M;ENSP00000379305:V46M;ENSP00000379302:V46M;ENSP00000432035:V46M;ENSP00000320002:V54M;ENSP00000389564:V46M	ENSP00000320002:V54M	V	-	1	0	BDNF	27636552	0.977000	0.34250	0.957000	0.39632	0.991000	0.79684	0.156000	0.16382	-0.215000	0.10063	-0.142000	0.14014	GTG	C|0.999;T|0.001	0.001	strong		0.547	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		T	27679976	C	T	27679976	3	4	22	1	0	0	0	0	1	0	0	0	1394	536	19	1	611	1	BDNF	11	27679976	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	277501	27679976	107326540	6062	11170										
METT5D1	196074	hgsc.bcm.edu	37	chr11	28351963	28351963	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcatttcctccctctgctAtttatacacggaaagactta	6	11	1	1	rs11030280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:28351963A>T	ENST00000407364.3	+	7	1151	c.799A>T	c.(799-801)Att>Ttt	p.I267F	METTL15_ENST00000303459.6_3'UTR|METTL15_ENST00000342303.5_3'UTR|METTL15_ENST00000406787.3_Missense_Mutation_p.Y252F			A6NJ78	MET15_HUMAN	methyltransferase like 15	267			I -> F (in dbSNP:rs11030280).				methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						TCCCTCTGCTATTTATACACG	0.368													a|||	66	0.0131789	0.0484	0.0029	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.0				p.I267F		Atlas-SNP	.											.	METTL15	63	.	0			c.A799T						PASS	.						26	20	22					11																	28351963		692	1591	2283	SO:0001583	missense	196074	exon7			TCTGCTATTTATA	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.799A>T	11.37:g.28351963A>T	ENSP00000384369:p.Ile267Phe	Somatic	229	1	0.00436681		WXS	Illumina HiSeq	Phase_I	242	117	0.483471	NM_001113528	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	CCDS44559.1	16|16	0.007326007326007326|0.007326007326007326	16|16	0.032520325203252036|0.032520325203252036	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	a|a	6.700|6.700	0.497771|0.497771	0.12762|0.12762	.|.	.|.	ENSG00000169519|ENSG00000169519	ENST00000407364|ENST00000406787	T|T	0.22743|0.42513	1.94|0.97	5.32|5.32	-8.55|-8.55	0.00908|0.00908	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);|.	1.236540|.	0.05563|.	N|.	0.569607|.	T|T	0.04497|0.04497	0.0123|0.0123	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|B	0.15473|0.02656	0.013|0.0	B|B	0.17979|0.04013	0.02|0.001	T|T	0.14227|0.14227	-1.0480|-1.0480	9|8	.|.	.|.	.|.	.|.	1.7987|1.7987	0.03067|0.03067	0.2726:0.3206:0.2653:0.1414|0.2726:0.3206:0.2653:0.1414	rs11030280|rs11030280	267|252	A6NJ78|A6NJ78-4	MET15_HUMAN|.	F|F	267|252	ENSP00000384369:I267F|ENSP00000385507:Y252F	.|.	I|Y	+|+	1|2	0|0	METTL15|METTL15	28308539|28308539	0.002000|0.002000	0.14202|0.14202	0.010000|0.010000	0.14722|0.14722	0.688000|0.688000	0.40055|0.40055	-0.377000|-0.377000	0.07456|0.07456	-0.966000|-0.966000	0.03587|0.03587	-1.125000|-1.125000	0.01998|0.01998	ATT|TAT	A|0.993;T|0.007	0.007	strong		0.368	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		T	28351963	A	T	28351963	3	4	22	1	0	0	0	0	1	0	0	0	9492	449	16	5	865	5	METT5D1	11	28351963	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	671987	28351963	106654553	6063	11171										
FSHB	2488	hgsc.bcm.edu	37	chr11	30255185	30255185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttcaaggaactggtataCgaaacagtgagagtgcccgg	12	9	1	1	rs6169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:30255185C>T	ENST00000417547.1	+	3	267	c.228C>T	c.(226-228)taC>taT	p.Y76Y	FSHB_ENST00000533718.1_Silent_p.Y76Y|FSHB_ENST00000254122.3_Silent_p.Y76Y	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	76					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						AACTGGTATACGAAACAGTGA	0.498													T|||	3079	0.614816	0.7572	0.5317	5008	,	,		18146	0.6696		0.4503	False		,,,				2504	0.5941				p.Y76Y		Atlas-SNP	.											.	FSHB	28	.	0			c.C228T						PASS	.	T	,	3124,1280	437.6+/-345.0	1100,924,178	107	94	99		228,228	-8.5	0.5	11	dbSNP_52	99	3747,4851	617.0+/-396.6	825,2097,1377	no	coding-synonymous,coding-synonymous	FSHB	NM_000510.2,NM_001018080.1	,	1925,3021,1555	TT,TC,CC		43.5799,29.0645,47.1543	,	76/130,76/130	30255185	6871,6131	2202	4299	6501	SO:0001819	synonymous_variant	2488	exon3			GGTATACGAAACA		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"Endogenous ligands"	3964	protein-coding gene	gene with protein product	"follitropin, beta chain", "follicle-stimulating hormone beta subunit"	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.228C>T	11.37:g.30255185C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_000510	A2TF08|A5JVV3|Q14D61	Silent	SNP	ENST00000417547.1	37	CCDS7868.1																																																																																			C|0.436;T|0.564	0.564	strong		0.498	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		T	30255185	C	T	30255185	2	4	22	1	0	0	0	0	0	0	0	1	6072	547	19	1		1	FSHB	11	30255185	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1903222	30255185	104751331	6064	11172										
DCDC1	341019	hgsc.bcm.edu	37	chr11	31327316	31327316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagcttttctgtgcactcCtccagcagctagaagaaagc	8	12	2	2	rs2616815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:31327316C>T	ENST00000452803.1	-	6	801	c.600G>A	c.(598-600)gaG>gaA	p.E200E	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Silent_p.E200E	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	200	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGTGCACTCCTCCAGCAGCT	0.428													T|||	3404	0.679712	0.9357	0.7032	5008	,	,		15827	0.3839		0.674	False		,,,				2504	0.6278				p.E200E		Atlas-SNP	.											.	DCDC1	74	.	0			c.G600A						PASS	.	T		3972,432	209.8+/-230.5	1792,388,22	82	84	83		600	0.7	0	11	dbSNP_100	83	5600,2998	464.9+/-366.4	1799,2002,498	no	coding-synonymous	DCDC1	NM_181807.3		3591,2390,520	TT,TC,CC		34.8686,9.8093,26.3806		200/355	31327316	9572,3430	2202	4299	6501	SO:0001819	synonymous_variant	341019	exon6			GCACTCCTCCAGC	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.600G>A	11.37:g.31327316C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	135	133	0.985185	NM_181807	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000452803.1	37	CCDS7872.1																																																																																			C|0.298;T|0.702	0.702	strong		0.428	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		T	31327316	C	T	31327316	2	4	22	1	0	0	0	0	0	0	0	1	4284	680	24	2		2	DCDC1	11	31327316	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1072131	31327316	103679200	6065	11173										
EIF3M	10480	hgsc.bcm.edu	37	chr11	32610617	32610617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaagatacacagtgtattGcagccttattaaagtggcag	10	6	0	1	rs140562244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:32610617G>T	ENST00000531120.1	+	4	437	c.374G>T	c.(373-375)tGc>tTc	p.C125F	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					ACAGTGTATTGCAGCCTTATT	0.408																																					p.C125F		Atlas-SNP	.											.	EIF3M	37	.	0			c.G374T						PASS	.	G	PHE/CYS	14,4390	14.3+/-33.2	0,14,2188	115	102	106		374	5.8	1	11	dbSNP_134	106	0,8598		0,0,4299	yes	missense	EIF3M	NM_006360.3	205	0,14,6487	TT,TG,GG		0.0,0.3179,0.1077	benign	125/375	32610617	14,12988	2202	4299	6501	SO:0001583	missense	10480	exon4			TGTATTGCAGCCT	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.374G>T	11.37:g.32610617G>T	ENSP00000436049:p.Cys125Phe	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	154	21	0.136364	NM_006360		Missense_Mutation	SNP	ENST00000531120.1	37	CCDS7880.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	14.72	2.618767	0.46736	0.003179	0.0	ENSG00000149100	ENST00000531120;ENST00000323213;ENST00000533439	T;T	0.36878	1.23;1.23	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.59436	1.845	0.80722	D	1	D	0.61080	0.989	P	0.62014	0.897	T	0.27536	-1.0071	10	0.12766	T	0.61	-25.8093	20.0797	0.97768	0.0:0.0:1.0:0.0	.	125	Q7L2H7	EIF3M_HUMAN	F	125;62;62	ENSP00000436049:C125F;ENSP00000319910:C62F	ENSP00000319910:C62F	C	+	2	0	EIF3M	32567193	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	9.476000	0.97823	2.752000	0.94435	0.467000	0.42956	TGC	G|0.998;T|0.002	0.002	strong		0.408	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		T	32610617	G	T	32610617	3	4	22	1	0	0	0	0	1	0	0	0	5023	1319	46	4	388	4	EIF3M	11	32610617	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1283301	32610617	102395899	6066	11174										
EIF3M	493860	hgsc.bcm.edu	37	chr11	32622233	32622233	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcactattctgttttctAggcctgttacatgaacagaa	7	9	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:32622233A>T	ENST00000335185.5	-	0	3849				EIF3M_ENST00000531120.1_Splice_Site|EIF3M_ENST00000524896.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTGTTTTCTAGGCCTGTTAC	0.333																																					.		Atlas-SNP	.											.	EIF3M	37	.	0			c.800-2A>T						PASS	.						65	63	63					11																	32622233		2202	4299	6501	SO:0001628	intergenic_variant	10480	exon9			TTTTCTAGGCCTG	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279		11.37:g.32622233A>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	108	12	0.111111	NM_006360	Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	31	5.076612	0.94000	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000526267	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3M	32578809	1.000000	0.71417	0.634000	0.29324	0.673000	0.39480	8.701000	0.91331	2.270000	0.75569	0.482000	0.46254	.	.	.	none		0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32622233	A	T	32622233	1	4	22	0	1	0	0	0	0	0	0	0	5023	434	15	5		5	EIF3M	11	32622233	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11616	32622233	102384283	6067	11175										
PRRG4	79056	hgsc.bcm.edu	37	chr11	32852172	32852172	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcttctaagcatgcgggaGaagaaggtaagcactaaaac	12	7	1	2	rs33962176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:32852172G>A	ENST00000257836.3	+	2	350	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	33			E -> K (in dbSNP:rs33962176).			extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E33K(1)		large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GCATGCGGGAGAAGAAGGTAA	0.488													G|||	364	0.0726837	0.0688	0.0504	5008	,	,		14880	0.0		0.1193	False		,,,				2504	0.1207				p.E33K		Atlas-SNP	.											PRRG4,NS,carcinoma,0,1	PRRG4	15	1	1	Substitution - Missense(1)	prostate(1)	c.G97A						PASS	.	G	LYS/GLU	329,4075	173.7+/-203.5	11,307,1884	90	80	84		97	2.8	0.6	11	dbSNP_126	84	1049,7549	220.9+/-258.5	48,953,3298	yes	missense	PRRG4	NM_024081.5	56	59,1260,5182	AA,AG,GG		12.2005,7.4705,10.5984	benign	33/227	32852172	1378,11624	2202	4299	6501	SO:0001583	missense	79056	exon2			GCGGGAGAAGAAG	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.97G>A	11.37:g.32852172G>A	ENSP00000257836:p.Glu33Lys	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	44	18	0.409091	NM_024081		Missense_Mutation	SNP	ENST00000257836.3	37	CCDS7881.1	154	0.07051282051282051	31	0.06300813008130081	18	0.049723756906077346	0	0.0	105	0.13852242744063326	G	6.368	0.436089	0.12104	0.074705	0.122005	ENSG00000135378	ENST00000257836	D	0.97731	-4.51	4.99	2.84	0.33178	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.376451	0.29172	N	0.012929	T	0.07234	0.0183	N	0.12746	0.255	0.42859	P	0.005898999999999988	B	0.06786	0.001	B	0.08055	0.003	T	0.66388	-0.5936	9	0.07175	T	0.84	-10.946	4.509	0.11901	0.3813:0.0:0.6187:0.0	rs33962176	33	Q9BZD6	TMG4_HUMAN	K	33	ENSP00000257836:E33K	ENSP00000257836:E33K	E	+	1	0	PRRG4	32808748	0.617000	0.27043	0.589000	0.28718	0.051000	0.14879	0.807000	0.27140	1.086000	0.41228	-0.192000	0.12808	GAA	G|0.902;A|0.098	0.098	strong		0.488	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		A	32852172	G	A	32852172	3	1	22	1	0	0	0	0	1	0	0	0	12608	943	33	2	99	2	PRRG4	11	32852172	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	229939	32852172	102154344	6068	11176										
PRRG4	79056	hgsc.bcm.edu	37	chr11	32874919	32874919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggaggctgccttgtctcCattgccgccttctgtggagg	14	11	2	1	rs34139105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:32874919C>A	ENST00000257836.3	+	6	780	c.527C>A	c.(526-528)cCa>cAa	p.P176Q		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	176			P -> Q (in dbSNP:rs34139105).			extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GCCTTGTCTCCATTGCCGCCT	0.517													C|||	271	0.0541134	0.0635	0.0346	5008	,	,		16129	0.0		0.0825	False		,,,				2504	0.0818				p.P176Q		Atlas-SNP	.											PRRG4,NS,carcinoma,+1,1	PRRG4	15	1	0			c.C527A						PASS	.	C	GLN/PRO	288,4116	159.2+/-191.8	8,272,1922	106	100	102		527	2.6	0	11	dbSNP_126	102	733,7865	176.6+/-226.4	26,681,3592	yes	missense	PRRG4	NM_024081.5	76	34,953,5514	AA,AC,CC		8.5252,6.5395,7.8526	possibly-damaging	176/227	32874919	1021,11981	2202	4299	6501	SO:0001583	missense	79056	exon6			TGTCTCCATTGCC	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.527C>A	11.37:g.32874919C>A	ENSP00000257836:p.Pro176Gln	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_024081		Missense_Mutation	SNP	ENST00000257836.3	37	CCDS7881.1	115	0.052655677655677656	28	0.056910569105691054	14	0.03867403314917127	0	0.0	73	0.09630606860158311	C	6.598	0.478792	0.12521	0.065395	0.085252	ENSG00000135378	ENST00000257836	D	0.98012	-4.66	5.56	2.57	0.30868	.	0.152215	0.64402	D	0.000011	T	0.51568	0.1682	M	0.62723	1.935	0.09310	N	0.999997	P	0.50272	0.933	P	0.45577	0.486	T	0.71510	-0.4571	10	0.29301	T	0.29	-0.7029	6.8589	0.24056	0.0:0.6953:0.1443:0.1605	rs34139105	176	Q9BZD6	TMG4_HUMAN	Q	176	ENSP00000257836:P176Q	ENSP00000257836:P176Q	P	+	2	0	PRRG4	32831495	0.005000	0.15991	0.001000	0.08648	0.018000	0.09664	1.561000	0.36342	0.265000	0.21872	0.551000	0.68910	CCA	C|0.927;A|0.073	0.073	strong		0.517	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		A	32874919	C	A	32874919	3	1	22	1	0	0	0	0	1	0	0	0	12608	594	21	4	545	4	PRRG4	11	32874919	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22747	32874919	102131597	6069	11177										
DEPDC7	91614	hgsc.bcm.edu	37	chr11	33053107	33053107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttaaatcacttatctgaCgttcataatggaattgcaga	7	7	3	2	rs966191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:33053107C>T	ENST00000241051.3	+	5	1058	c.966C>T	c.(964-966)gaC>gaT	p.D322D	DEPDC7_ENST00000311388.3_Silent_p.D313D	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	322					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ACTTATCTGACGTTCATAATG	0.373													C|||	1987	0.396765	0.4402	0.4553	5008	,	,		21448	0.4236		0.4105	False		,,,				2504	0.2546				p.D322D		Atlas-SNP	.											.	DEPDC7	94	.	0			c.C966T						PASS	.	C	,	1578,2102		331,916,593	88	83	85		966,939	-4.4	0.9	11	dbSNP_86	85	3291,4905		676,1939,1483	no	coding-synonymous,coding-synonymous	DEPDC7	NM_001077242.1,NM_139160.2	,	1007,2855,2076	TT,TC,CC		40.1537,42.8804,40.9987	,	322/512,313/503	33053107	4869,7007	1840	4098	5938	SO:0001819	synonymous_variant	91614	exon5			ATCTGACGTTCAT		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.966C>T	11.37:g.33053107C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	111	57	0.513514	NM_001077242	G5E941|Q8N602|Q8NCU9|Q9UGK5	Silent	SNP	ENST00000241051.3	37	CCDS41632.1																																																																																			C|0.588;T|0.412	0.412	strong		0.373	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		T	33053107	C	T	33053107	2	4	22	1	0	0	0	0	0	0	0	1	4444	535	19	1		1	DEPDC7	11	33053107	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178188	33053107	101953409	6070	11178										
TCP11L1	55346	hgsc.bcm.edu	37	chr11	33065394	33065394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgattctgaggaaggcctCgaagatgctgtggaaggtgc	15	6	1	3	rs1064005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:33065394C>T	ENST00000334274.4	+	2	475	c.75C>T	c.(73-75)ctC>ctT	p.L25L	TCP11L1_ENST00000531632.2_Silent_p.L25L|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000432887.1_Silent_p.L25L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	25						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						AGGAAGGCCTCGAAGATGCTG	0.408													C|||	1991	0.397564	0.4576	0.4467	5008	,	,		19560	0.4226		0.3986	False		,,,				2504	0.2546				p.L25L		Atlas-SNP	.											.	TCP11L1	40	.	0			c.C75T						PASS	.	C	,	1991,2413	558.9+/-380.1	435,1121,646	199	205	203		75,75	-2	1	11	dbSNP_86	203	3417,5179	505.6+/-376.4	691,2035,1572	yes	coding-synonymous,coding-synonymous	TCP11L1	NM_001145541.1,NM_018393.3	,	1126,3156,2218	TT,TC,CC		39.751,45.2089,41.6	,	25/510,25/510	33065394	5408,7592	2202	4298	6500	SO:0001819	synonymous_variant	55346	exon2			AGGCCTCGAAGAT	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.75C>T	11.37:g.33065394C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	86	40	0.465116	NM_001145541	D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	CCDS7882.1																																																																																			C|0.583;T|0.417	0.417	strong		0.408	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		T	33065394	C	T	33065394	2	4	22	1	0	0	0	0	0	0	0	1	15711	871	31	1		1	TCP11L1	11	33065394	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12287	33065394	101941122	6071	11179										
NAT10	55226	hgsc.bcm.edu	37	chr11	34133767	34133767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttcggcatgtgtgtgctGcaggtgggtggcttcctcta	14	10	1	0	rs36003235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34133767G>A	ENST00000257829.3	+	4	575	c.369G>A	c.(367-369)ctG>ctA	p.L123L	NAT10_ENST00000531159.2_Silent_p.L51L|NAT10_ENST00000527971.1_Silent_p.L123L	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	123						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGTGTGTGCTGCAGGTGGGTG	0.517													G|||	32	0.00638978	0.0219	0.0043	5008	,	,		20244	0.0		0.0	False		,,,				2504	0.0				p.L123L		Atlas-SNP	.											.	NAT10	78	.	0			c.G369A						PASS	.	G	,	49,4355	50.9+/-86.3	0,49,2153	115	82	93		153,369	-2.1	1	11	dbSNP_126	93	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	NAT10	NM_001144030.1,NM_024662.2	,	0,50,6450	AA,AG,GG		0.0116,1.1126,0.3846	,	51/954,123/1026	34133767	50,12950	2202	4298	6500	SO:0001819	synonymous_variant	55226	exon4			TGTGCTGCAGGTG	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.369G>A	11.37:g.34133767G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	163	77	0.472393	NM_024662	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	CCDS7889.1																																																																																			G|0.996;A|0.004	0.004	strong		0.517	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		A	34133767	G	A	34133767	2	1	22	1	0	0	0	0	0	0	0	1	10174	1306	46	2		2	NAT10	11	34133767	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1068373	34133767	100872749	6072	11180										
ABTB2	25841	hgsc.bcm.edu	37	chr11	34176262	34176262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcacctccaggatgtcagTggtggggatctccatggatt	12	10	3	0	rs2473928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34176262T>C	ENST00000435224.2	-	15	3176	c.2752A>G	c.(2752-2754)Act>Gct	p.T918A	ABTB2_ENST00000298992.2_Missense_Mutation_p.T732A	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	918			T -> A (in dbSNP:rs2473928).		cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AGGATGTCAGTGGTGGGGATC	0.602													C|||	142	0.0283546	0.1044	0.0058	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0				p.T918A		Atlas-SNP	.											.	ABTB2	101	.	0			c.A2752G						PASS	.	C	ALA/THR	328,4076	796.1+/-415.3	14,300,1888	153	134	140		2752	-0.4	0	11	dbSNP_100	140	3,8593	819.0+/-406.8	0,3,4295	yes	missense	ABTB2	NM_145804.2	58	14,303,6183	CC,CT,TT		0.0349,7.4478,2.5462	benign	918/1026	34176262	331,12669	2202	4298	6500	SO:0001583	missense	25841	exon15			TGTCAGTGGTGGG	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2752A>G	11.37:g.34176262T>C	ENSP00000410157:p.Thr918Ala	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	122	69	0.565574	NM_145804	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	41	0.018772893772893772	40	0.08130081300813008	1	0.0027624309392265192	0	0.0	0	0.0	C	0.013	-1.626374	0.00813	0.074478	3.49E-4	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.65732	-0.17;-0.17	4.79	-0.445	0.12242	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.385085	0.29178	N	0.012911	T	0.02012	0.0063	N	0.20807	0.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07481	-1.0770	10	0.02654	T	1	-15.8719	6.5214	0.22277	0.1139:0.4201:0.0:0.466	rs2473928;rs16925228;rs52811333;rs2473928	732	Q8N961	ABTB2_HUMAN	A	918;732	ENSP00000410157:T918A;ENSP00000298992:T732A	ENSP00000298992:T732A	T	-	1	0	ABTB2	34132838	0.000000	0.05858	0.016000	0.15963	0.433000	0.31745	-0.763000	0.04740	-0.594000	0.05836	-2.820000	0.00109	ACT	T|0.973;C|0.027	0.027	strong		0.602	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		C	34176262	T	C	34176262	3	2	22	1	0	0	0	0	1	0	0	0	103	1696	59	2	337	2	ABTB2	11	34176262	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42495	34176262	100830254	6073	11181										
ABTB2	25841	hgsc.bcm.edu	37	chr11	34226140	34226140	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggagggactgctccagGgttcggagctccagctgggc	17	12	0	0	rs77165558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34226140G>T	ENST00000435224.2	-	2	1405	c.981C>A	c.(979-981)acC>acA	p.T327T	ABTB2_ENST00000298992.2_Silent_p.T141T|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	327					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACTGCTCCAGGGTTCGGAGCT	0.637													G|||	142	0.0283546	0.1036	0.0072	5008	,	,		17394	0.0		0.0	False		,,,				2504	0.0				p.T327T		Atlas-SNP	.											ABTB2,NS,carcinoma,-2,1	ABTB2	101	1	0			c.C981A						PASS	.	G		392,4012	193.0+/-218.2	21,350,1831	45	43	44		981	-5.2	1	11	dbSNP_132	44	4,8592	3.0+/-9.4	0,4,4294	no	coding-synonymous	ABTB2	NM_145804.2		21,354,6125	TT,TG,GG		0.0465,8.901,3.0462		327/1026	34226140	396,12604	2202	4298	6500	SO:0001819	synonymous_variant	25841	exon2			CTCCAGGGTTCGG	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.981C>A	11.37:g.34226140G>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	33	17	0.515152	NM_145804	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	CCDS7890.2																																																																																			G|0.972;T|0.028	0.028	strong		0.637	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34226140	G	T	34226140	2	4	22	1	0	0	0	0	0	0	0	1	103	1219	43	4		4	ABTB2	11	34226140	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49878	34226140	100780376	6074	11182										
ABTB2	25841	hgsc.bcm.edu	37	chr11	34378381	34378381	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctccgccatcagggctGtggctggccatcaccctggc	12	18	2	0	rs1925368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34378381G>C	ENST00000435224.2	-	1	1174	c.750C>G	c.(748-750)caC>caG	p.H250Q	ABTB2_ENST00000298992.2_Missense_Mutation_p.H64Q	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	250			H -> Q (in dbSNP:rs1925368). {ECO:0000269|PubMed:14702039}.		cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATCAGGGCTGTGGCTGGCCA	0.667													C|||	896	0.178914	0.2859	0.0879	5008	,	,		16857	0.373		0.0626	False		,,,				2504	0.0184				p.H250Q		Atlas-SNP	.											.	ABTB2	101	.	0			c.C750G						PASS	.	C	GLN/HIS	1058,3346		127,804,1271	24	21	22		750	3.8	1	11	dbSNP_92	22	575,8019		12,551,3734	yes	missense	ABTB2	NM_145804.2	24	139,1355,5005	CC,CG,GG		6.6907,24.0236,12.5635	benign	250/1026	34378381	1633,11365	2202	4297	6499	SO:0001583	missense	25841	exon1			AGGGCTGTGGCTG	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.750C>G	11.37:g.34378381G>C	ENSP00000410157:p.His250Gln	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_145804	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	438	0.20054945054945056	137	0.2784552845528455	36	0.09944751381215469	225	0.39335664335664333	40	0.052770448548812667	C	2.321	-0.355532	0.05138	0.240236	0.066907	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.57907	0.37;0.37	4.72	3.81	0.43845	Histone-fold (2);	0.145459	0.47093	N	0.000255	T	0.00012	0.0000	N	0.00436	-1.5	0.51233	P	8.60000000000305E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	9	0.11485	T	0.65	-9.1489	9.2476	0.37536	0.0:0.7737:0.1463:0.08	rs1925368;rs3740794;rs1925368	64	Q8N961	ABTB2_HUMAN	Q	250;64	ENSP00000410157:H250Q;ENSP00000298992:H64Q	ENSP00000298992:H64Q	H	-	3	2	ABTB2	34334957	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	2.560000	0.45896	0.437000	0.26423	-0.371000	0.07208	CAC	G|0.844;C|0.156	0.156	strong		0.667	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		C	34378381	G	C	34378381	3	2	22	1	0	0	0	0	1	0	0	0	103	1368	48	4	2395	4	ABTB2	11	34378381	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152241	34378381	100628135	6075	11183										
CAT	847	hgsc.bcm.edu	37	chr11	34482908	34482908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggccaactaccagcgtgaCggcccgatgtgcatgcagga	14	12	0	1	rs769217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34482908C>T	ENST00000241052.4	+	9	1256	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	389					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACCAGCGTGACGGCCCGATGT	0.607													C|||	1316	0.26278	0.1422	0.2896	5008	,	,		18460	0.5		0.2147	False		,,,				2504	0.2117				p.D389D		Atlas-SNP	.											.	CAT	42	.	0			c.C1167T	GRCh37	CM025323	CAT	M	rs769217	PASS	.	C		739,3665	305.8+/-289.2	57,625,1520	113	106	108		1167	-2.6	1	11	dbSNP_92	108	2007,6589	351.1+/-328.1	209,1589,2500	no	coding-synonymous	CAT	NM_001752.3		266,2214,4020	TT,TC,CC		23.3481,16.7802,21.1231		389/528	34482908	2746,10254	2202	4298	6500	SO:0001819	synonymous_variant	847	exon9			GCGTGACGGCCCG	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1167C>T	11.37:g.34482908C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	123	68	0.552846	NM_001752	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	CCDS7891.1																																																																																			C|0.745;T|0.255	0.255	strong		0.607	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		T	34482908	C	T	34482908	2	4	22	1	0	0	0	0	0	0	0	1	2686	535	19	1		1	CAT	11	34482908	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104527	34482908	100523608	6076	11184										
PDHX	8050	hgsc.bcm.edu	37	chr11	34938269	34938269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgtgggcttccccggcCgccgaagcgtagggctggtg	16	12	1	0	rs1049306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34938269C>T	ENST00000227868.4	+	1	151	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	PDHX_ENST00000430469.2_Missense_Mutation_p.R23C|PDHX_ENST00000448838.3_Intron|APIP_ENST00000278359.5_5'Flank|APIP_ENST00000395787.3_5'Flank|APIP_ENST00000527830.1_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	23			R -> C (in dbSNP:rs1049306). {ECO:0000269|PubMed:9242632}.		cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTCCCCGGCCGCCGAAGCGT	0.642													C|||	964	0.192492	0.4395	0.1037	5008	,	,		12243	0.0873		0.1173	False		,,,				2504	0.1074				p.R23C		Atlas-SNP	.											.	PDHX	40	.	0			c.C67T						PASS	.	C	,CYS/ARG,CYS/ARG	1727,2677	490.1+/-361.7	352,1023,827	31	35	34		,67,67	-0.6	0	11	dbSNP_86	34	947,7649	199.7+/-243.7	56,835,3407	no	intron,missense,missense	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	,180,180	408,1858,4234	TT,TC,CC		11.0168,39.2144,20.5692	,benign,benign	,23/275,23/502	34938269	2674,10326	2202	4298	6500	SO:0001583	missense	8050	exon1			CCCGGCCGCCGAA	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.67C>T	11.37:g.34938269C>T	ENSP00000227868:p.Arg23Cys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	387	0.1771978021978022	195	0.39634146341463417	41	0.1132596685082873	63	0.11013986013986014	88	0.11609498680738786	C	10.40	1.340934	0.24339	0.392144	0.110168	ENSG00000110435	ENST00000227868;ENST00000430469;ENST00000533262	T;T;T	0.40225	1.87;1.04;1.76	5.26	-0.622	0.11560	.	0.878589	0.10162	N	0.708207	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.44817	-0.9303	8	0.37606	T	0.19	0.1283	7.7318	0.28791	0.0:0.4515:0.38:0.1685	rs1049306;rs3189450;rs3818399;rs17173964;rs1049306	23;23	E9PBP7;O00330	.;ODPX_HUMAN	C	23	ENSP00000227868:R23C;ENSP00000415695:R23C;ENSP00000432277:R23C	ENSP00000227868:R23C	R	+	1	0	PDHX	34894845	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.080000	0.11339	-0.171000	0.10797	-1.134000	0.01955	CGC	C|0.802;T|0.198	0.198	strong		0.642	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		T	34938269	C	T	34938269	3	4	22	1	0	0	0	0	1	0	0	0	11667	652	23	1	188	1	PDHX	11	34938269	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	455361	34938269	100068247	6077	11185										
PDHX	8050	hgsc.bcm.edu	37	chr11	34938310	34938310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggggctcttgggtggtcTgtaagccgcggagctaattg	17	7	2	0	rs1049307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34938310T>C	ENST00000227868.4	+	1	192	c.108T>C	c.(106-108)tcT>tcC	p.S36S	APIP_ENST00000395787.3_5'Flank|PDHX_ENST00000448838.3_Intron|APIP_ENST00000527830.1_5'Flank|PDHX_ENST00000430469.2_Silent_p.S36S|APIP_ENST00000278359.5_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	36					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TTGGGTGGTCTGTAAGCCGCG	0.637													T|||	965	0.192692	0.4395	0.1052	5008	,	,		13072	0.0873		0.1173	False		,,,				2504	0.1074				p.S36S		Atlas-SNP	.											.	PDHX	40	.	0			c.T108C						PASS	.	T	,,	1719,2683		349,1021,831	37	39	38		,108,108	0.4	0	11	dbSNP_86	38	946,7650		57,832,3409	no	intron,coding-synonymous,coding-synonymous	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	,,	406,1853,4240	CC,CT,TT		11.0051,39.0504,20.5032	,,	,36/275,36/502	34938310	2665,10333	2201	4298	6499	SO:0001819	synonymous_variant	8050	exon1			GTGGTCTGTAAGC	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.108T>C	11.37:g.34938310T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1																																																																																			T|0.802;C|0.198	0.198	strong		0.637	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		C	34938310	T	C	34938310	2	2	22	1	0	0	0	0	0	0	0	1	11667	1567	55	3		3	PDHX	11	34938310	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41	34938310	100068206	6078	11186										
PDHX	8050	hgsc.bcm.edu	37	chr11	34969150	34969150	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggaatcttggccaaaatCgtggtaagtttttattttaa	9	4	1	0	rs34582941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34969150C>T	ENST00000227868.4	+	3	423	c.339C>T	c.(337-339)atC>atT	p.I113I	PDHX_ENST00000448838.3_Silent_p.I98I|PDHX_ENST00000430469.2_Silent_p.I113I			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	113	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGGCCAAAATCGTGGTAAGTT	0.353													C|||	272	0.0543131	0.1974	0.0159	5008	,	,		15319	0.0		0.0	False		,,,				2504	0.0				p.I113I		Atlas-SNP	.											.	PDHX	40	.	0			c.C339T						PASS	.	C	,,	720,3684	299.3+/-285.7	67,586,1549	163	154	157		294,339,339	-2.9	1	11	dbSNP_126	157	10,8586	5.7+/-21.5	0,10,4288	no	coding-synonymous,coding-synonymous,coding-synonymous	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	,,	67,596,5837	TT,TC,CC		0.1163,16.3488,5.6154	,,	98/487,113/275,113/502	34969150	730,12270	2202	4298	6500	SO:0001819	synonymous_variant	8050	exon3			CAAAATCGTGGTA	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.339C>T	11.37:g.34969150C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1																																																																																			C|0.951;T|0.049	0.049	strong		0.353	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		T	34969150	C	T	34969150	2	4	22	1	0	0	0	0	0	0	0	1	11667	874	31	1		1	PDHX	11	34969150	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30840	34969150	100037366	6079	11187										
PDHX	8050	hgsc.bcm.edu	37	chr11	34988343	34988343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcccaccagtatcaactccTggacaacccaatgcagtggt	7	14	1	0	rs61760973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:34988343T>C	ENST00000227868.4	+	6	882	c.798T>C	c.(796-798)ccT>ccC	p.P266P	PDHX_ENST00000448838.3_Silent_p.P251P|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	266					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TATCAACTCCTGGACAACCCA	0.493													T|||	586	0.117013	0.3177	0.062	5008	,	,		19415	0.0159		0.0318	False		,,,				2504	0.0767				p.P266P		Atlas-SNP	.											.	PDHX	40	.	0			c.T798C						PASS	.	T	,,	1204,3200	421.3+/-339.3	166,872,1164	97	94	95		753,,798	1.8	1	11	dbSNP_129	95	281,8315	104.6+/-165.6	5,271,4022	no	coding-synonymous,intron,coding-synonymous	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	,,	171,1143,5186	CC,CT,TT		3.269,27.3388,11.4231	,,	251/487,,266/502	34988343	1485,11515	2202	4298	6500	SO:0001819	synonymous_variant	8050	exon6			AACTCCTGGACAA	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.798T>C	11.37:g.34988343T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1																																																																																			T|0.897;C|0.103	0.103	strong		0.493	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		C	34988343	T	C	34988343	2	2	22	1	0	0	0	0	0	0	0	1	11667	1567	55	3		3	PDHX	11	34988343	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19193	34988343	100018173	6080	11188										
CD44	960	hgsc.bcm.edu	37	chr11	35201842	35201842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgggttcatagaagggcaCgtggtgattccccggatcca	13	9	1	2	rs1071695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:35201842C>T	ENST00000428726.2	+	3	378	c.255C>T	c.(253-255)caC>caT	p.H85H	CD44_ENST00000415148.2_Silent_p.H85H|CD44_ENST00000526669.2_Silent_p.H85H|CD44_ENST00000433354.2_Silent_p.H85H|CD44_ENST00000449691.2_Silent_p.H85H|CD44_ENST00000263398.6_Silent_p.H85H|CD44_ENST00000434472.2_Silent_p.H85H|CD44_ENST00000360158.4_Silent_p.H85H|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Silent_p.H85H|CD44_ENST00000437706.2_Silent_p.H85H|CD44_ENST00000433892.2_Silent_p.H85H	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	85	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|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 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TAGAAGGGCACGTGGTGATTC	0.438													C|||	698	0.139377	0.149	0.2205	5008	,	,		19558	0.0714		0.173	False		,,,				2504	0.1043				p.H85H		Atlas-SNP	.											CD44,colon,carcinoma,0,1	CD44	48	1	0			c.C255T	GRCh37	CM076085	CD44	M	rs1071695	PASS	.	C	,,,,,,,	712,3692	296.7+/-284.4	54,604,1544	168	140	150		255,255,255,255,,255,255,255	-8.2	0.3	11	dbSNP_86	150	1477,7119	280.8+/-294.7	123,1231,2944	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	,,,,,,,	177,1835,4488	TT,TC,CC		17.1824,16.1671,16.8385	,,,,,,,	85/743,85/700,85/494,85/362,,85/430,85/341,85/295	35201842	2189,10811	2202	4298	6500	SO:0001819	synonymous_variant	960	exon3			AGGGCACGTGGTG	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.255C>T	11.37:g.35201842C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	231	114	0.493506	NM_001001391	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	CCDS7897.1	333|333	0.15247252747252749|0.15247252747252749	75|75	0.1524390243902439|0.1524390243902439	79|79	0.21823204419889503|0.21823204419889503	47|47	0.08216783216783216|0.08216783216783216	132|132	0.1741424802110818|0.1741424802110818	C|C	4.473|4.473	0.087625|0.087625	0.08583|0.08583	0.161671|0.161671	0.171824|0.171824	ENSG00000026508|ENSG00000026508	ENST00000442151;ENST00000528455|ENST00000527889;ENST00000531873	.|.	.|.	.|.	5.86|5.86	-8.16|-8.16	0.01061|0.01061	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999831683|0.999999831683	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.18366|0.18366	-1.0339|-1.0339	3|3	.|.	.|.	.|.	-5.8315|-5.8315	17.4346|17.4346	0.87548|0.87548	0.0:0.1989:0.0:0.8011|0.0:0.1989:0.0:0.8011	rs1071695;rs3198437;rs3198804;rs11542696;rs17423178;rs17849845;rs1071695|rs1071695;rs3198437;rs3198804;rs11542696;rs17423178;rs17849845;rs1071695	.|.	.|.	.|.	C|M	85;22|41;6	.|.	.|.	R|T	+|+	1|2	0|0	CD44|CD44	35158418|35158418	0.001000|0.001000	0.12720|0.12720	0.296000|0.296000	0.24974|0.24974	0.509000|0.509000	0.34042|0.34042	-3.037000|-3.037000	0.00634|0.00634	-1.565000|-1.565000	0.01676|0.01676	-0.806000|-0.806000	0.03193|0.03193	CGT|ACG	C|0.835;T|0.165	0.165	strong		0.438	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		T	35201842	C	T	35201842	2	4	22	1	0	0	0	0	0	0	0	1	3017	535	19	1		1	CD44	11	35201842	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	213499	35201842	99804674	6081	11189										
CD44	960	hgsc.bcm.edu	37	chr11	35223303	35223303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcaccatgagcatcatgaGgaagaagagaccccacattc	8	11	2	4	rs11033026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:35223303G>A	ENST00000428726.2	+	9	1245	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	CD44_ENST00000415148.2_Silent_p.E331E|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Silent_p.E375E|CD44_ENST00000449691.2_Silent_p.E374E|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Silent_p.E374E|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	374	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|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 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGCATCATGAGGAAGAAGAGA	0.473													G|||	473	0.0944489	0.3449	0.0245	5008	,	,		18781	0.0		0.0	False		,,,				2504	0.0				p.E374E		Atlas-SNP	.											.	CD44	48	.	0			c.G1122A						PASS	.	G	,,,,,,,	1185,3219	417.2+/-337.8	174,837,1191	153	129	137		1122,993,,,,,,	-10.3	0.1	11	dbSNP_120	137	12,8584	5.7+/-21.5	0,12,4286	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron,intron	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	,,,,,,,	174,849,5477	AA,AG,GG		0.1396,26.9074,9.2077	,,,,,,,	374/743,331/700,,,,,,	35223303	1197,11803	2202	4298	6500	SO:0001819	synonymous_variant	960	exon9			TCATGAGGAAGAA	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1122G>A	11.37:g.35223303G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	161	160	0.993789	NM_000610	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	CCDS7897.1	176	0.08058608058608059	170	0.34552845528455284	6	0.016574585635359115	0	0.0	0	0.0	G	0.022	-1.413724	0.01145	0.269074	0.001396	ENSG00000026508	ENST00000528455	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.35450	-0.9788	3	.	.	.	-9.2826	1.2309	0.01943	0.2577:0.2623:0.3217:0.1583	rs11033026;rs11033026	.	.	.	R	226	.	.	G	+	1	0	CD44	35179879	0.000000	0.05858	0.068000	0.19968	0.002000	0.02628	-2.933000	0.00687	-1.585000	0.01634	-1.108000	0.02087	GGA	G|0.883;A|0.117	0.117	strong		0.473	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		A	35223303	G	A	35223303	2	1	22	1	0	0	0	0	0	0	0	1	3017	991	35	2		2	CD44	11	35223303	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21461	35223303	99783213	6082	11190										
PAMR1	25891	hgsc.bcm.edu	37	chr11	35492351	35492351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgtagtcaaactccagGctcaacatgacaaatctgtg	7	11	3	1	rs16927500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:35492351G>A	ENST00000378880.2	-	5	955	c.510C>T	c.(508-510)agC>agT	p.S170S	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Silent_p.S130S|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.S170S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	170	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAAACTCCAGGCTCAACATGA	0.557													A|||	464	0.0926518	0.2595	0.0591	5008	,	,		22839	0.0377		0.0249	False		,,,				2504	0.0174				p.S170S		Atlas-SNP	.											.	PAMR1	85	.	0			c.C510T						PASS	.	A	,	1006,3398	729.6+/-410.1	95,816,1291	111	80	90		510,510	1.5	1	11	dbSNP_123	90	183,8413	810.9+/-407.1	3,177,4118	no	coding-synonymous,coding-synonymous	PAMR1	NM_001001991.1,NM_015430.2	,	98,993,5409	AA,AG,GG		2.1289,22.8429,9.1462	,	170/721,170/738	35492351	1189,11811	2202	4298	6500	SO:0001819	synonymous_variant	25891	exon5			CTCCAGGCTCAAC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.510C>T	11.37:g.35492351G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	123	71	0.577236	NM_001001991	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	CCDS31460.1																																																																																			G|0.906;A|0.094	0.094	strong		0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		A	35492351	G	A	35492351	2	1	22	1	0	0	0	0	0	0	0	1	11413	1194	42	2		2	PAMR1	11	35492351	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	269048	35492351	99514165	6083	11191										
FJX1	24147	hgsc.bcm.edu	37	chr11	35641428	35641428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgctcagctgctacagcGccgcctcgacttcctcgcca	8	20	1	0	rs12286850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:35641428G>A	ENST00000317811.4	+	1	1694	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	415			R -> H (in dbSNP:rs12286850).		retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CTGCTACAGCGCCGCCTCGAC	0.667													G|||	358	0.0714856	0.2617	0.0159	5008	,	,		13330	0.0		0.001	False		,,,				2504	0.0				p.R415H	Melanoma(161;10 2587 27165 47356)	Atlas-SNP	.											.	FJX1	32	.	0			c.G1244A						PASS	.	G	HIS/ARG	717,3093		68,581,1256	6	7	7		1244	4.3	1	11	dbSNP_120	7	9,8147		0,9,4069	yes	missense	FJX1	NM_014344.3	29	68,590,5325	AA,AG,GG		0.1103,18.8189,6.0672	probably-damaging	415/438	35641428	726,11240	1905	4078	5983	SO:0001583	missense	24147	exon1			TACAGCGCCGCCT	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.1244G>A	11.37:g.35641428G>A	ENSP00000400223:p.Arg415His	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	47	27	0.574468	NM_014344	B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	CCDS44570.1	124	0.056776556776556776	118	0.23983739837398374	6	0.016574585635359115	0	0.0	0	0.0	G	13.12	2.141657	0.37825	0.188189	0.001103	ENSG00000179431	ENST00000317811	T	0.80480	-1.38	5.21	4.29	0.51040	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.35833	P	0.174551	B	0.11235	0.004	B	0.08055	0.003	T	0.03354	-1.1045	8	0.51188	T	0.08	-3.1322	7.4212	0.27073	0.1565:0.1395:0.7039:0.0	rs12286850	415	Q86VR8	FJX1_HUMAN	H	415	ENSP00000400223:R415H	ENSP00000400223:R415H	R	+	2	0	FJX1	35598004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	1.184000	0.42957	0.555000	0.69702	CGC	G|0.908;A|0.092	0.092	strong		0.667	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		A	35641428	G	A	35641428	3	1	22	1	0	0	0	0	1	0	0	0	5901	1087	38	1	1246	1	FJX1	11	35641428	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149077	35641428	99365088	6084	11192										
LRRC4C	57689	hgsc.bcm.edu	37	chr11	40137543	40137543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgtaggatttccaagtgTctcaagtgcttgaagctgtt	10	7	1	1	rs2953310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:40137543T>C	ENST00000278198.2	-	2	2263	c.300A>G	c.(298-300)agA>agG	p.R100R	LRRC4C_ENST00000528697.1_Silent_p.R100R|LRRC4C_ENST00000530763.1_Silent_p.R100R|LRRC4C_ENST00000527150.1_Silent_p.R100R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	100					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R100R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTCCAAGTGTCTCAAGTGCT	0.473													C|||	2501	0.499401	0.7027	0.5058	5008	,	,		19910	0.6052		0.3728	False		,,,				2504	0.2413				p.R100R		Atlas-SNP	.											LRRC4C,NS,carcinoma,0,1	LRRC4C	190	1	1	Substitution - coding silent(1)	stomach(1)	c.A300G						scavenged	.	C		2917,1489	477.0+/-357.8	981,955,267	96	90	92		300	3.9	1	11	dbSNP_101	92	3562,5038	629.9+/-398.3	730,2102,1468	no	coding-synonymous	LRRC4C	NM_020929.1		1711,3057,1735	CC,CT,TT		41.4186,33.7948,49.8155		100/641	40137543	6479,6527	2203	4300	6503	SO:0001819	synonymous_variant	57689	exon7			CAAGTGTCTCAAG	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.300A>G	11.37:g.40137543T>C		Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	161	81	0.503106	NM_001258419	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																			T|0.478;C|0.522	0.522	strong		0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40137543	T	C	40137543	2	2	22	1	0	0	0	0	0	0	0	1	9008	1664	58	2		2	LRRC4C	11	40137543	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4496115	40137543	94868973	6085	11193										
TTC17	55761	hgsc.bcm.edu	37	chr11	43413028	43413028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttagtcctgaagattatAtagacacagaatctcctgtc	6	8	1	4	rs12099204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:43413028A>C	ENST00000039989.4	+	4	447	c.433A>C	c.(433-435)Ata>Cta	p.I145L	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.I145L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	145			I -> L (in dbSNP:rs12099204).		actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGAAGATTATATAGACACAGA	0.328													A|||	528	0.105431	0.382	0.0317	5008	,	,		16846	0.0		0.001	False		,,,				2504	0.0				p.I145L		Atlas-SNP	.											.	TTC17	112	.	0			c.A433C						PASS	.	A	LEU/ILE	1459,2947	469.6+/-355.5	256,947,1000	80	82	82		433	5.2	1	11	dbSNP_120	82	9,8591	6.4+/-24.3	0,9,4291	yes	missense	TTC17	NM_018259.5	5	256,956,5291	CC,CA,AA		0.1047,33.1139,11.2871	benign	145/1142	43413028	1468,11538	2203	4300	6503	SO:0001583	missense	55761	exon4			GATTATATAGACA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.433A>C	11.37:g.43413028A>C	ENSP00000039989:p.Ile145Leu	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	203	203	1	NM_018259	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	202	0.0924908424908425	193	0.39227642276422764	9	0.024861878453038673	0	0.0	0	0.0	A	12.70	2.015330	0.35511	0.331139	0.001047	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.31510	1.49;1.59	5.2	5.2	0.72013	.	0.264075	0.45606	D	0.000357	T	0.00012	0.0000	N	0.08118	0	0.34987	P	0.245382	B;B;B	0.16802	0.011;0.007;0.019	B;B;B	0.17433	0.008;0.006;0.018	T	0.41088	-0.9528	9	0.09338	T	0.73	-16.7019	9.8335	0.40956	0.9228:0.0:0.0772:0.0	rs12099204;rs12099204	145;145;145	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	L	145	ENSP00000299240:I145L;ENSP00000039989:I145L	ENSP00000039989:I145L	I	+	1	0	TTC17	43369604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.614000	0.36911	2.091000	0.63221	0.460000	0.39030	ATA	A|0.883;C|0.117	0.117	strong		0.328	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43413028	A	C	43413028	3	2	22	1	0	0	0	0	1	0	0	0	16681	449	16	5	447	5	TTC17	11	43413028	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3275485	43413028	91593488	6086	11194										
HSD17B12	51144	hgsc.bcm.edu	37	chr11	43876698	43876698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattctgtttccctagggctCgataatctcaaacctgcctt	6	13	2	0	rs11555762	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:43876698C>T	ENST00000278353.4	+	11	958	c.839C>T	c.(838-840)tCg>tTg	p.S280L	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	280			S -> L (in dbSNP:rs11555762). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CCCTAGGGCTCGATAATCTCA	0.328													C|||	1798	0.359026	0.4236	0.464	5008	,	,		17419	0.256		0.3211	False		,,,				2504	0.3425				p.S280L	Ovarian(58;548 1143 13948 16572 34258)	Atlas-SNP	.											.	HSD17B12	25	.	0			c.C839T						PASS	.	C	LEU/SER	1835,2571	530.8+/-373.0	371,1093,739	113	115	114		839	0.4	0	11	dbSNP_120	114	2661,5939	427.2+/-355.5	385,1891,2024	yes	missense	HSD17B12	NM_016142.2	145	756,2984,2763	TT,TC,CC		30.9419,41.6478,34.5687	benign	280/313	43876698	4496,8510	2203	4300	6503	SO:0001583	missense	51144	exon11			AGGGCTCGATAAT	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.839C>T	11.37:g.43876698C>T	ENSP00000278353:p.Ser280Leu	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	132	62	0.469697	NM_016142	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	ENST00000278353.4	37	CCDS7905.1	711	0.32554945054945056	207	0.42073170731707316	162	0.44751381215469616	110	0.19230769230769232	232	0.30606860158311344	C	2.602	-0.292759	0.05568	0.416478	0.309419	ENSG00000149084	ENST00000278353	T	0.45668	0.89	5.63	0.382	0.16234	NAD(P)-binding domain (1);	1.871760	0.02473	N	0.087729	T	0.00012	0.0000	N	0.21097	0.63	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.38542	-0.9656	9	0.09590	T	0.72	2.0097	7.7993	0.29166	0.0:0.4083:0.3545:0.2373	rs11555762;rs12576296;rs52827594;rs60391800;rs11555762	280	Q53GQ0	DHB12_HUMAN	L	280	ENSP00000278353:S280L	ENSP00000278353:S280L	S	+	2	0	HSD17B12	43833274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.692000	0.25482	-0.122000	0.11766	-2.389000	0.00228	TCG	C|0.665;T|0.335	0.335	strong		0.328	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			T	43876698	C	T	43876698	3	4	22	1	0	0	0	0	1	0	0	0	7381	893	31	1	881	1	HSD17B12	11	43876698	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	463670	43876698	91129818	6087	11195										
ACCS	84680	hgsc.bcm.edu	37	chr11	44089352	44089352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctgccatgatctcctctGatacctcctacctgtcctct	4	17	3	2	rs33952257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:44089352G>A	ENST00000263776.8	+	2	609	c.175G>A	c.(175-177)Gat>Aat	p.D59N	ACCS_ENST00000533208.1_Intron|ACCS_ENST00000432284.2_Missense_Mutation_p.D59N	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	59			D -> N (in dbSNP:rs33952257).		biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GATCTCCTCTGATACCTCCTA	0.512													G|||	1339	0.267372	0.4818	0.098	5008	,	,		1910	0.3085		0.1581	False		,,,				2504	0.1677				p.D59N	Esophageal Squamous(158;148 1889 8077 23160 41213)	Atlas-SNP	.											.	ACCS	64	.	0			c.G175A						PASS	.	G	ASN/ASP,ASN/ASP	1889,2517	543.6+/-376.3	404,1081,718	92	87	89		175,175	-0.4	0.1	11	dbSNP_126	89	1255,7345	251.4+/-277.9	98,1059,3143	yes	missense,missense	ACCS	NM_001127219.1,NM_032592.3	23,23	502,2140,3861	AA,AG,GG		14.593,42.8734,24.1735	benign,benign	59/502,59/502	44089352	3144,9862	2203	4300	6503	SO:0001583	missense	84680	exon2			TCCTCTGATACCT	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.175G>A	11.37:g.44089352G>A	ENSP00000263776:p.Asp59Asn	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	156	79	0.50641	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	547	0.25045787545787546	218	0.44308943089430897	38	0.10497237569060773	179	0.3129370629370629	112	0.14775725593667546	G	8.622	0.891541	0.17613	0.428734	0.14593	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.60040	0.98;0.22;0.98;0.88	5.37	-0.447	0.12234	Pyridoxal phosphate-dependent transferase, major domain (1);	1.373470	0.04542	N	0.388436	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B;B	0.17667	0.023;0.0	B;B	0.15052	0.012;0.001	T	0.35674	-0.9779	8	.	.	.	-3.0453	8.032	0.30470	0.6237:0.0:0.3763:0.0	rs33952257;rs58939098	59;59	B4E219;Q96QU6	.;1A1L1_HUMAN	N	59	ENSP00000434156:D59N;ENSP00000263776:D59N;ENSP00000391775:D59N;ENSP00000435919:D59N	.	D	+	1	0	ACCS	44045928	0.000000	0.05858	0.133000	0.22050	0.227000	0.25037	0.427000	0.21379	0.019000	0.15079	0.591000	0.81541	GAT	G|0.754;A|0.246	0.246	strong		0.512	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		A	44089352	G	A	44089352	3	1	22	1	0	0	0	0	1	0	0	0	133	1290	45	2	177	2	ACCS	11	44089352	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	212654	44089352	90917164	6088	11196										
EXT2	2132	hgsc.bcm.edu	37	chr11	44129386	44129386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcctcattgccactggcAtgtttcagttttggccccat	10	12	2	0	rs4755779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:44129386A>G	ENST00000343631.3	+	2	253	c.124A>G	c.(124-126)Atg>Gtg	p.M42V	EXT2_ENST00000533608.1_Missense_Mutation_p.M42V|EXT2_ENST00000395673.3_Missense_Mutation_p.M75V|EXT2_ENST00000358681.4_Missense_Mutation_p.M42V			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	42			M -> V (in dbSNP:rs4755779).		carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCCACTGGCATGTTTCAGTT	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				A|||	65	0.0129792	0.0492	0.0	5008	,	,		19628	0.0		0.0	False		,,,				2504	0.0				p.M75V		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	.	EXT2	129	.	0			c.A223G						PASS	.	A	VAL/MET,VAL/MET,VAL/MET	215,4191	132.1+/-168.6	3,209,1991	158	164	162		223,124,124	-1.5	1	11	dbSNP_111	162	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	21,21,21	3,210,6290	GG,GA,AA		0.0116,4.8797,1.6608	benign,benign,benign	75/752,42/729,42/719	44129386	216,12790	2203	4300	6503	SO:0001583	missense	2132	exon2	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ACTGGCATGTTTC		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.124A>G	11.37:g.44129386A>G	ENSP00000342656:p.Met42Val	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	204	98	0.480392	NM_000401	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	CCDS7908.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	A	9.644	1.139669	0.21205	0.048797	1.16E-4	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.45	-1.52	0.08637	.	0.204155	0.64402	N	0.000019	T	0.03095	0.0091	N	0.24115	0.695	0.43814	D	0.996377	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.17018	-1.0383	10	0.07990	T	0.79	-5.2768	8.2837	0.31915	0.5707:0.1043:0.3249:0.0	rs4755779;rs52810595;rs4755779	42;42;42;42;55	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	V	42;42;42;42;75;42	ENSP00000431173:M42V;ENSP00000433827:M42V;ENSP00000434716:M42V;ENSP00000351509:M42V;ENSP00000379032:M75V;ENSP00000342656:M42V	ENSP00000342656:M42V	M	+	1	0	EXT2	44085962	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.323000	0.33701	-0.161000	0.10983	0.528000	0.53228	ATG	A|0.981;G|0.019	0.019	strong		0.527	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		G	44129386	A	G	44129386	3	3	22	1	0	0	0	0	1	0	0	0	5324	217	8	2	229	2	EXT2	11	44129386	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40034	44129386	90877130	6089	11197										
ALX4	60529	hgsc.bcm.edu	37	chr11	44286722	44286722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgttgttgccgagccaggaCgggttctgaatctgggagag	16	9	2	2	rs145904583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:44286722C>T	ENST00000329255.3	-	4	1021	c.918G>A	c.(916-918)ccG>ccA	p.P306P		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	306			P -> L. {ECO:0000269|PubMed:22829454}.		anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P306P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGAGCCAGGACGGGTTCTGAA	0.687													C|||	47	0.00938498	0.0325	0.0043	5008	,	,		16566	0.0		0.0	False		,,,				2504	0.001				p.P306P		Atlas-SNP	.											ALX4,NS,carcinoma,0,1	ALX4	58	1	1	Substitution - coding silent(1)	prostate(1)	c.G918A						PASS	.	C		100,4198		1,98,2050	17	16	16		918	-7.6	0.3	11	dbSNP_134	16	5,8425		0,5,4210	no	coding-synonymous	ALX4	NM_021926.3		1,103,6260	TT,TC,CC		0.0593,2.3267,0.825		306/412	44286722	105,12623	2149	4215	6364	SO:0001819	synonymous_variant	60529	exon4			CCAGGACGGGTTC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.918G>A	11.37:g.44286722C>T		Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	221	109	0.493213	NM_021926	Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	CCDS31468.1																																																																																			C|0.991;T|0.009	0.009	strong		0.687	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			T	44286722	C	T	44286722	2	4	22	1	0	0	0	0	0	0	0	1	558	523	19	1		1	ALX4	11	44286722	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	157336	44286722	90719794	6090	11198										
TSPAN18	90139	hgsc.bcm.edu	37	chr11	44931308	44931308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtcatggtggaccccaCcggcttccgggagatcgtgg	16	12	1	1	rs34282417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:44931308C>T	ENST00000520358.2	+	5	531	c.116C>T	c.(115-117)aCc>aTc	p.T39I	TSPAN18_ENST00000340160.3_Missense_Mutation_p.T39I			Q96SJ8	TSN18_HUMAN	tetraspanin 18	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						GTGGACCCCACCGGCTTCCGG	0.667													C|||	17	0.00339457	0.0121	0.0014	5008	,	,		14867	0.0		0.0	False		,,,				2504	0.0				p.T39I		Atlas-SNP	.											.	TSPAN18	38	.	0			c.C116T						PASS	.	C	ILE/THR	46,4360	47.5+/-82.1	0,46,2157	45	49	48		116	5	1	11	dbSNP_126	48	0,8598		0,0,4299	yes	missense	TSPAN18	NM_130783.4	89	0,46,6456	TT,TC,CC		0.0,1.044,0.3537	probably-damaging	39/249	44931308	46,12958	2203	4299	6502	SO:0001583	missense	90139	exon4			ACCCCACCGGCTT	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.116C>T	11.37:g.44931308C>T	ENSP00000429993:p.Thr39Ile	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	87	44	0.505747	NM_130783	Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	CCDS7910.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	C	18.20	3.570526	0.65765	0.01044	0.0	ENSG00000157570	ENST00000533786;ENST00000533202;ENST00000520358;ENST00000520999;ENST00000340160;ENST00000520837	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.67517	2.055	0.80722	D	1	B;P	0.40050	0.143;0.7	B;B	0.42882	0.228;0.401	T	0.76041	-0.3104	10	0.40728	T	0.16	.	18.2971	0.90150	0.0:1.0:0.0:0.0	rs34282417	39;39	Q8WUV1;Q96SJ8	.;TSN18_HUMAN	I	39;39;39;49;39;49	ENSP00000433592:T39I;ENSP00000434625:T39I;ENSP00000429993:T39I;ENSP00000427942:T49I;ENSP00000339820:T39I;ENSP00000430343:T49I	ENSP00000339820:T39I	T	+	2	0	TSPAN18	44887884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.845000	0.62853	2.319000	0.78375	0.561000	0.74099	ACC	C|0.995;T|0.005	0.005	strong		0.667	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		T	44931308	C	T	44931308	3	4	22	1	0	0	0	0	1	0	0	0	16639	507	18	2	122	2	TSPAN18	11	44931308	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	644586	44931308	90075208	6091	11199										
TSPAN18	90139	hgsc.bcm.edu	37	chr11	44948263	44948263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaacaccttcgagacctaCgtctacttggccggagccct	8	16	2	1	rs34695714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:44948263C>T	ENST00000520358.2	+	9	1069	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TSPAN18_ENST00000340160.3_Silent_p.Y218Y			Q96SJ8	TSN18_HUMAN	tetraspanin 18	218						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TCGAGACCTACGTCTACTTGG	0.602											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	129	0.0257588	0.0953	0.0043	5008	,	,		17858	0.0		0.0	False		,,,				2504	0.0				p.Y218Y		Atlas-SNP	.											TSPAN18,colon,carcinoma,+1,1	TSPAN18	38	1	0			c.C654T						PASS	.	C		320,4086	169.8+/-200.3	6,308,1889	217	187	197		654	-1	1	11	dbSNP_126	197	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TSPAN18	NM_130783.4		6,310,6186	TT,TC,CC		0.0233,7.2628,2.4762		218/249	44948263	322,12682	2203	4299	6502	SO:0001819	synonymous_variant	90139	exon8			GACCTACGTCTAC	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.654C>T	11.37:g.44948263C>T		Somatic	107	0	0	927	WXS	Illumina HiSeq	Phase_I	124	65	0.524194	NM_130783	Q6UY44|Q8NBI9	Silent	SNP	ENST00000520358.2	37	CCDS7910.1	58	0.026556776556776556	57	0.11585365853658537	1	0.0027624309392265192	0	0.0	0	0.0	C	3.000	-0.206236	0.06180	0.072628	2.33E-4	ENSG00000157570	ENST00000518429	.	.	.	4.54	-1.0	0.10196	.	.	.	.	.	T	0.00666	0.0022	.	.	.	0.09310	P	0.9999999999999879	.	.	.	.	.	.	T	0.23511	-1.0186	3	.	.	.	.	9.8138	0.40840	0.0:0.4987:0.0:0.5013	rs34695714	.	.	.	C	222	.	.	R	+	1	0	TSPAN18	44904839	0.935000	0.31712	0.991000	0.47740	0.329000	0.28539	0.060000	0.14342	-0.186000	0.10533	0.479000	0.44913	CGT	C|0.972;T|0.028	0.028	strong		0.602	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		T	44948263	C	T	44948263	2	4	22	1	0	0	0	0	0	0	0	1	16639	547	19	1		1	TSPAN18	11	44948263	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16955	44948263	90058253	6092	11200										
SLC35C1	55343	hgsc.bcm.edu	37	chr11	45827783	45827783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcggtgtggccttctacaAtgtgggccgctcactcacca	11	14	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:45827783A>G	ENST00000314134.3	+	1	1827	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SLC35C1_ENST00000442528.2_Missense_Mutation_p.N131S|SLC35C1_ENST00000456334.1_Missense_Mutation_p.N131S	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	144					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTTCTACAATGTGGGCCGC	0.587																																					p.N144S		Atlas-SNP	.											.	SLC35C1	23	.	0			c.A431G						PASS	.						137	96	110					11																	45827783		2203	4299	6502	SO:0001583	missense	55343	exon1			TCTACAATGTGGG		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.431A>G	11.37:g.45827783A>G	ENSP00000313318:p.Asn144Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	77	4	0.0519481	NM_018389	B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323167	0.41096	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.64	4.64	0.57946	Drug/metabolite transporter (1);	0.049836	0.85682	D	0.000000	T	0.28732	0.0712	L	0.39898	1.24	0.42596	D	0.993269	B	0.22909	0.077	B	0.26614	0.071	T	0.08289	-1.0729	10	0.23302	T	0.38	-24.5504	10.2877	0.43577	0.8343:0.1656:0.0:0.0	.	144	Q96A29	FUCT1_HUMAN	S	131;131;65;144;131;144	ENSP00000412408:N131S;ENSP00000399779:N131S;ENSP00000313318:N144S;ENSP00000432669:N131S	ENSP00000313318:N144S	N	+	2	0	SLC35C1	45784359	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	4.671000	0.61590	1.738000	0.51689	0.460000	0.39030	AAT	.	.	none		0.587	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		G	45827783	A	G	45827783	3	3	22	1	0	0	0	0	1	0	0	0	14579	101	4	2	433	2	SLC35C1	11	45827783	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	879520	45827783	89178733	6093	11201										
SLC35C1	55343	hgsc.bcm.edu	37	chr11	45832509	45832509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacaacgtcaacgcctgcAtcctcttcctgcccctgctc	5	19	2	0	rs7130656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:45832509A>G	ENST00000314134.3	+	2	2114	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	SLC35C1_ENST00000442528.2_Missense_Mutation_p.I227V|SLC35C1_ENST00000456334.1_Missense_Mutation_p.I227V|CTD-2210P24.6_ENST00000534128.1_lincRNA	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	240			I -> V (in dbSNP:rs7130656).		carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGCCTGCATCCTCTTCCT	0.632													G|||	515	0.102835	0.2337	0.0677	5008	,	,		19582	0.001		0.1382	False		,,,				2504	0.0194				p.I240V		Atlas-SNP	.											SLC35C1,NS,carcinoma,0,2	SLC35C1	23	2	0			c.A718G						PASS	.	G	VAL/ILE,VAL/ILE,VAL/ILE	906,3500	738.9+/-411.0	86,734,1383	57	54	55		679,679,718	1.1	1	11	dbSNP_116	55	959,7639	774.1+/-407.7	68,823,3408	yes	missense,missense,missense	SLC35C1	NM_001145265.1,NM_001145266.1,NM_018389.4	29,29,29	154,1557,4791	GG,GA,AA		11.1538,20.5629,14.3417	benign,benign,benign	227/352,227/352,240/365	45832509	1865,11139	2203	4299	6502	SO:0001583	missense	55343	exon2			GCCTGCATCCTCT		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.718A>G	11.37:g.45832509A>G	ENSP00000313318:p.Ile240Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_018389	B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	CCDS7914.1	259	0.11858974358974358	119	0.241869918699187	34	0.09392265193370165	0	0.0	106	0.13984168865435356	G	2.482	-0.319429	0.05386	0.205629	0.111538	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.65916	-0.18;-0.18;-0.18	6.17	1.14	0.20703	Domain of unknown function DUF250 (1);	0.522394	0.21103	N	0.080121	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.13415	-1.0510	9	0.07175	T	0.84	-22.5421	5.0846	0.14675	0.2866:0.0:0.5:0.2134	rs7130656;rs17725077;rs57668458;rs7130656	240	Q96A29	FUCT1_HUMAN	V	227;227;161;240;240	ENSP00000412408:I227V;ENSP00000399779:I227V;ENSP00000313318:I240V	ENSP00000313318:I240V	I	+	1	0	SLC35C1	45789085	0.391000	0.25221	0.969000	0.41365	0.663000	0.39108	0.551000	0.23361	0.186000	0.20125	-1.617000	0.00794	ATC	A|0.866;G|0.134	0.134	strong		0.632	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		G	45832509	A	G	45832509	3	3	22	1	0	0	0	0	1	0	0	0	14579	217	8	2	724	2	SLC35C1	11	45832509	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4726	45832509	89174007	6094	11202										
PEX16	9409	hgsc.bcm.edu	37	chr11	45932458	45932458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctgcttacttgtgaccaGgccaacgccagggacgtggt	12	13	0	1	rs150774189	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:45932458G>A	ENST00000378750.5	-	10	1186	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	PEX16_ENST00000532681.1_Silent_p.L220L|PEX16_ENST00000241041.3_Silent_p.L315L			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	315	Interaction with PEX19.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTTGTGACCAGGCCAACGCCA	0.597													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		18792	0.0		0.0	False		,,,				2504	0.0				p.L315L		Atlas-SNP	.											.	PEX16	24	.	0			c.C943T						PASS	.	G	,	68,4338	62.3+/-99.4	2,64,2137	118	102	108		943,943	3.4	1	11	dbSNP_134	108	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PEX16	NM_004813.2,NM_057174.2	,	2,64,6436	AA,AG,GG		0.0,1.5433,0.5229	,	315/337,315/347	45932458	68,12936	2203	4299	6502	SO:0001819	synonymous_variant	9409	exon10			TGACCAGGCCAAC	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.943C>T	11.37:g.45932458G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	111	60	0.540541	NM_004813	Q9BWB9	Silent	SNP	ENST00000378750.5	37	CCDS31472.1																																																																																			G|0.995;A|0.005	0.005	strong		0.597	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		A	45932458	G	A	45932458	2	1	22	1	0	0	0	0	0	0	0	1	11743	991	35	2		2	PEX16	11	45932458	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99949	45932458	89074058	6095	11203										
CREB3L1	90993	hgsc.bcm.edu	37	chr11	46339011	46339011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggaagaccccctggccGcagacggcgtctacacggcc	13	15	1	3	rs35652107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46339011G>A	ENST00000529193.1	+	10	1682	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.A411T|CREB3L1_ENST00000534616.1_3'UTR			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	411			A -> T (in dbSNP:rs35652107).		regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCCCCTGGCCGCAGACGGCGT	0.672			T	FUS	myxofibrosarcoma								G|||	368	0.0734824	0.0847	0.0447	5008	,	,		15933	0.0843		0.0775	False		,,,				2504	0.0634				p.A411T	Pancreas(3;159 194 19597 26278 47995)	Atlas-SNP	.		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	.	CREB3L1	30	.	0			c.G1231A						PASS	.	G	THR/ALA	310,3666		24,262,1702	38	42	41		1231	-10.2	0.2	11	dbSNP_126	41	629,7693		18,593,3550	yes	missense	CREB3L1	NM_052854.2	58	42,855,5252	AA,AG,GG		7.5583,7.7968,7.6354	benign	411/520	46339011	939,11359	1988	4161	6149	SO:0001583	missense	90993	exon10			CTGGCCGCAGACG		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1231G>A	11.37:g.46339011G>A	ENSP00000434939:p.Ala411Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_052854	Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	CCDS53620.1	188	0.08608058608058608	50	0.1016260162601626	18	0.049723756906077346	62	0.10839160839160839	58	0.07651715039577836	G	3.986	-0.005371	0.07773	0.077968	0.075583	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.64260	-0.09;-0.09	5.08	-10.2	0.00374	.	1.168090	0.06301	N	0.701005	T	0.00637	0.0021	N	0.13098	0.295	0.80722	P	0.0	B;B	0.19583	0.037;0.001	B;B	0.13407	0.009;0.001	T	0.02567	-1.1140	9	0.10636	T	0.68	-16.3211	8.1366	0.31058	0.1832:0.1525:0.595:0.0693	rs35652107	323;411	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	T	411;411;323	ENSP00000434939:A411T;ENSP00000288400:A411T	ENSP00000288400:A411T	A	+	1	0	CREB3L1	46295587	0.000000	0.05858	0.202000	0.23494	0.103000	0.19146	-1.101000	0.03336	-1.999000	0.00967	-1.079000	0.02226	GCA	G|0.914;A|0.086	0.086	strong		0.672	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		A	46339011	G	A	46339011	3	1	22	1	0	0	0	0	1	0	0	0	3856	1087	38	1	1269	1	CREB3L1	11	46339011	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	406553	46339011	88667505	6096	11204										
DGKZ	8525	hgsc.bcm.edu	37	chr11	46388024	46388024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccagggttccagccgccGgcgctccagcactgtgcccc	13	19	0	0	rs11827702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46388024G>A	ENST00000454345.1	+	2	343	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	73					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCAGCCGCCGGCGCTCCAGC	0.701													G|||	204	0.0407348	0.1475	0.0101	5008	,	,		12532	0.0		0.001	False		,,,				2504	0.001				p.R73Q		Atlas-SNP	.											.	DGKZ	199	.	0			c.G218A						PASS	.	G	GLN/ARG,,,,,,	346,3634		8,330,1652	13	15	15		218,,,,,,	3.2	1	11	dbSNP_120	15	4,8270		0,4,4133	yes	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	43,,,,,,	8,334,5785	AA,AG,GG		0.0483,8.6935,2.8562	possibly-damaging,,,,,,	73/1118,,,,,,	46388024	350,11904	1990	4137	6127	SO:0001583	missense	8525	exon2			GCCGCCGGCGCTC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.218G>A	11.37:g.46388024G>A	ENSP00000412178:p.Arg73Gln	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_001105540	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	68	0.031135531135531136	63	0.12804878048780488	5	0.013812154696132596	0	0.0	0	0.0	G	23.1	4.371425	0.82573	0.086935	4.83E-4	ENSG00000149091	ENST00000454345	T	0.74002	-0.8	4.15	3.15	0.36227	.	2.389100	0.02186	N	0.060943	T	0.03520	0.0101	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.57745	-0.7758	10	0.72032	D	0.01	.	12.8442	0.57821	0.0:0.0:0.8362:0.1637	rs11827702	73	Q13574	DGKZ_HUMAN	Q	73	ENSP00000412178:R73Q	ENSP00000412178:R73Q	R	+	2	0	DGKZ	46344600	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	6.808000	0.75206	2.033000	0.60031	0.462000	0.41574	CGG	G|0.968;A|0.032	0.032	strong		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		A	46388024	G	A	46388024	3	1	22	1	0	0	0	0	1	0	0	0	4474	1116	39	1	664	1	DGKZ	11	46388024	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49013	46388024	88618492	6097	11205										
CHRM4	1132	hgsc.bcm.edu	37	chr11	46406767	46406767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatagcaggcagggttgatGgtgctgttgacgtagcagag	17	6	0	3	rs2067482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46406767G>A	ENST00000433765.2	-	1	1340	c.1341C>T	c.(1339-1341)acC>acT	p.T447T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	447					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGGGTTGATGGTGCTGTTGA	0.572													g|||	555	0.110823	0.1059	0.0807	5008	,	,		20073	0.0506		0.167	False		,,,				2504	0.1431				p.T447T	Esophageal Squamous(171;1020 1936 4566 30205 42542)	Atlas-SNP	.											.	CHRM4	47	.	0			c.C1341T						PASS	.			498,3906	225.6+/-241.4	27,444,1731	138	141	140		1341	3.7	1	11	dbSNP_96	140	1492,7106	281.7+/-295.2	121,1250,2928	no	coding-synonymous	CHRM4	NM_000741.2		148,1694,4659	AA,AG,GG		17.3529,11.3079,15.3053		447/480	46406767	1990,11012	2202	4299	6501	SO:0001819	synonymous_variant	1132	exon1			GTTGATGGTGCTG	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1341C>T	11.37:g.46406767G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	201	93	0.462687	NM_000741	B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	CCDS44581.1																																																																																			G|0.844;T|0.003	.	strong		0.572	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		A	46406767	G	A	46406767	2	1	22	1	0	0	0	0	0	0	0	1	3379	1335	47	2		2	CHRM4	11	46406767	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18743	46406767	88599749	6098	11206										
LRP4	4038	hgsc.bcm.edu	37	chr11	46914526	46914526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgagatacaacttacccCtccatgggatgcaaggcaat	9	12	0	1	rs61741501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46914526C>T	ENST00000378623.1	-	13	1937	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	565					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAACTTACCCCTCCATGGGAT	0.567													C|||	306	0.0611022	0.2216	0.0173	5008	,	,		17231	0.0		0.001	False		,,,				2504	0.0				p.E565E		Atlas-SNP	.											.	LRP4	160	.	0			c.G1695A						PASS	.	C		763,3639	303.2+/-287.8	67,629,1505	43	41	42		1695	2.7	1	11	dbSNP_129	42	3,8595	2.2+/-6.3	0,3,4296	no	coding-synonymous	LRP4	NM_002334.3		67,632,5801	TT,TC,CC		0.0349,17.333,5.8923		565/1906	46914526	766,12234	2201	4299	6500	SO:0001819	synonymous_variant	4038	exon13			TTACCCCTCCATG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1695G>A	11.37:g.46914526C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																			C|0.947;T|0.053	0.053	strong		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46914526	C	T	46914526	2	4	22	1	0	0	0	0	0	0	0	1	8959	680	24	2		2	LRP4	11	46914526	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	507759	46914526	88091990	6099	11207										
LRP4	4038	hgsc.bcm.edu	37	chr11	46917868	46917868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaacacaggaactggtccAaggcacattgggggcttcct	11	12	0	0	rs7926667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46917868A>G	ENST00000378623.1	-	9	1183	c.941T>C	c.(940-942)tTg>tCg	p.L314S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	314	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.		L -> S (in dbSNP:rs7926667).		dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAACTGGTCCAAGGCACATTG	0.562													G|||	306	0.0611022	0.2216	0.0173	5008	,	,		20751	0.0		0.001	False		,,,				2504	0.0				p.L314S		Atlas-SNP	.											.	LRP4	160	.	0			c.T941C						PASS	.	G	SER/LEU	769,3633	752.8+/-412.3	67,635,1499	90	86	87		941	6	0.9	11	dbSNP_116	87	3,8595	818.6+/-406.8	0,3,4296	yes	missense	LRP4	NM_002334.3	145	67,638,5795	GG,GA,AA		0.0349,17.4693,5.9385	benign	314/1906	46917868	772,12228	2201	4299	6500	SO:0001583	missense	4038	exon9			TGGTCCAAGGCAC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.941T>C	11.37:g.46917868A>G	ENSP00000367888:p.Leu314Ser	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	22	7	0.318182	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	100	0.045787545787545784	92	0.18699186991869918	8	0.022099447513812154	0	0.0	0	0.0	G	4.491	0.091136	0.08632	0.174693	3.49E-4	ENSG00000134569	ENST00000378623	T	0.55234	0.53	5.96	5.96	0.96718	.	0.074366	0.56097	N	0.000024	T	0.00039	0.0001	N	0.02368	-0.58	0.42982	P	0.005531999999999981	B	0.02656	0.0	B	0.06405	0.002	T	0.08806	-1.0704	9	0.07482	T	0.82	.	10.2442	0.43330	0.0677:0.0:0.7975:0.1348	rs7926667;rs52792198;rs7926667	314	O75096	LRP4_HUMAN	S	314	ENSP00000367888:L314S	ENSP00000367888:L314S	L	-	2	0	LRP4	46874444	1.000000	0.71417	0.886000	0.34754	0.907000	0.53573	4.687000	0.61708	1.543000	0.49345	-0.119000	0.15052	TTG	A|0.948;G|0.052	0.052	strong		0.562	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		G	46917868	A	G	46917868	3	3	22	1	0	0	0	0	1	0	0	0	8959	131	5	2	4896	2	LRP4	11	46917868	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3342	46917868	88088648	6100	11208										
LRP4	4038	hgsc.bcm.edu	37	chr11	46918529	46918529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacagcggaactgttctgcCgtacacatggaggtggctgg	15	9	1	1	rs879721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:46918529C>T	ENST00000378623.1	-	8	1055	c.813G>A	c.(811-813)acG>acA	p.T271T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	271	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTGTTCTGCCGTACACATGG	0.552													T|||	309	0.0617013	0.2239	0.0173	5008	,	,		17998	0.0		0.001	False		,,,				2504	0.0				p.T271T		Atlas-SNP	.											.	LRP4	160	.	0			c.G813A						PASS	.	T		770,3632	753.5+/-412.4	68,634,1499	113	100	104		813	-11.6	0	11	dbSNP_86	104	3,8595	819.0+/-406.8	0,3,4296	no	coding-synonymous	LRP4	NM_002334.3		68,637,5795	TT,TC,CC		0.0349,17.492,5.9462		271/1906	46918529	773,12227	2201	4299	6500	SO:0001819	synonymous_variant	4038	exon8			TTCTGCCGTACAC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.813G>A	11.37:g.46918529C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																			C|0.943;T|0.057	0.057	strong		0.552	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46918529	C	T	46918529	2	4	22	1	0	0	0	0	0	0	0	1	8959	639	23	1		1	LRP4	11	46918529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	661	46918529	88087987	6101	11209										
NR1H3	10062	hgsc.bcm.edu	37	chr11	47282024	47282024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggaacgagctatgcagCgtgtgtggggacaaggcctc	17	9	0	0	rs2279238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:47282024C>T	ENST00000467728.1	+	3	1535	c.297C>T	c.(295-297)agC>agT	p.S99S	NR1H3_ENST00000405853.3_Silent_p.S99S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Silent_p.S99S|NR1H3_ENST00000481889.2_Silent_p.S54S|NR1H3_ENST00000527949.1_Silent_p.S8S|NR1H3_ENST00000407404.1_Silent_p.S99S|NR1H3_ENST00000405576.1_Silent_p.S54S|NR1H3_ENST00000395397.3_Silent_p.S54S			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	99					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGCTATGCAGCGTGTGTGGGG	0.582													C|||	1772	0.353834	0.4228	0.2622	5008	,	,		19004	0.6726		0.1521	False		,,,				2504	0.2045				p.S105S		Atlas-SNP	.											.	NR1H3	52	.	0			c.C315T	GRCh37	CM066153	NR1H3	M	rs2279238	PASS	.	C	,,	1612,2790	498.1+/-364.0	290,1032,879	73	68	70		297,162,297	-6.7	0.9	11	dbSNP_100	70	1281,7315	253.3+/-279.0	94,1093,3111	no	coding-synonymous,coding-synonymous,coding-synonymous	NR1H3	NM_001130101.1,NM_001130102.1,NM_005693.2	,,	384,2125,3990	TT,TC,CC		14.9023,36.6197,22.2573	,,	99/388,54/403,99/448	47282024	2893,10105	2201	4298	6499	SO:0001819	synonymous_variant	10062	exon4			ATGCAGCGTGTGT	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.297C>T	11.37:g.47282024C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_001251934	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	CCDS7929.1																																																																																			C|0.733;T|0.267	0.267	strong		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			T	47282024	C	T	47282024	2	4	22	1	0	0	0	0	0	0	0	1	10618	767	27	1		1	NR1H3	11	47282024	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	363495	47282024	87724492	6102	11210										
MADD	8567	hgsc.bcm.edu	37	chr11	47306585	47306585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcattggcaaatcgaacGtggacagacgtcaggcagaa	12	10	1	2	rs1051006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:47306585G>A	ENST00000311027.5	+	13	2416	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	MADD_ENST00000407859.3_Missense_Mutation_p.V751M|MADD_ENST00000406482.1_Missense_Mutation_p.V751M|MADD_ENST00000349238.3_Missense_Mutation_p.V751M|MADD_ENST00000402192.2_Missense_Mutation_p.V751M|MADD_ENST00000395344.3_Missense_Mutation_p.V751M|MADD_ENST00000342922.4_Missense_Mutation_p.V751M|MADD_ENST00000402799.1_Missense_Mutation_p.V751M|MADD_ENST00000395336.3_Missense_Mutation_p.V751M	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAATCGAACGTGGACAGACG	0.552													G|||	1678	0.335064	0.3873	0.2608	5008	,	,		19647	0.622		0.162	False		,,,				2504	0.1994				p.V751M		Atlas-SNP	.											.	MADD	172	.	0			c.G2251A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1517,2885	481.4+/-359.1	266,985,950	91	88	89		2251,2251,2251,2251,2251,2251,2251,2251,2251,2251	-5.5	0	11	dbSNP_86	89	1414,7182	271.7+/-289.7	118,1178,3002	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	21,21,21,21,21,21,21,21,21,21	384,2163,3952	AA,AG,GG		16.4495,34.4616,22.5496	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	751/1545,751/1542,751/1648,751/1589,751/1566,751/1546,751/1609,751/1480,751/1582,751/1588	47306585	2931,10067	2201	4298	6499	SO:0001583	missense	8567	exon13			TCGAACGTGGACA	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2251G>A	11.37:g.47306585G>A	ENSP00000310933:p.Val751Met	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	71	42	0.591549	NM_130474		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	711	0.32554945054945056	153	0.31097560975609756	100	0.27624309392265195	331	0.5786713286713286	127	0.16754617414248021	G	11.28	1.593369	0.28357	0.344616	0.164495	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06068	3.42;3.35;3.35;3.41;3.4;3.36;3.36;3.4;3.42	5.88	-5.48	0.02592	.	0.643077	0.16526	N	0.210600	T	0.00012	0.0000	N	0.02011	-0.69	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B;B;B;B	0.27932	0.122;0.008;0.006;0.013;0.062;0.194;0.002;0.006;0.003;0.003	B;B;B;B;B;B;B;B;B;B	0.20577	0.014;0.001;0.005;0.004;0.012;0.03;0.002;0.004;0.002;0.005	T	0.37549	-0.9701	9	0.35671	T	0.21	0.0134	4.5741	0.12225	0.5719:0.1332:0.1482:0.1467	rs1051006;rs3736103;rs17702266;rs58641924;rs1051006	751;751;751;751;751;751;751;751;751;751	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	M	751	ENSP00000343902:V751M;ENSP00000385585:V751M;ENSP00000384435:V751M;ENSP00000304505:V751M;ENSP00000310933:V751M;ENSP00000384204:V751M;ENSP00000378753:V751M;ENSP00000378745:V751M;ENSP00000384287:V751M	ENSP00000310933:V751M	V	+	1	0	MADD	47263161	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.823000	0.04443	-0.592000	0.05851	0.655000	0.94253	GTG	G|0.733;A|0.267	0.267	strong		0.552	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47306585	G	A	47306585	3	1	22	1	0	0	0	0	1	0	0	0	9152	1145	40	1	2297	1	MADD	11	47306585	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24561	47306585	87699931	6103	11211										
SLC39A13	91252	hgsc.bcm.edu	37	chr11	47431703	47431703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaaggctcctcttcctcActgcccttgccctggagctc	8	19	2	0	rs61897432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:47431703A>G	ENST00000362021.4	+	2	100	c.58A>G	c.(58-60)Act>Gct	p.T20A	RP11-750H9.5_ENST00000532943.1_RNA|SLC39A13_ENST00000524928.1_Missense_Mutation_p.T20A|SLC39A13_ENST00000531974.1_Missense_Mutation_p.T20A|SLC39A13_ENST00000354884.4_Missense_Mutation_p.T20A|SLC39A13_ENST00000533076.1_Missense_Mutation_p.T20A|RP11-750H9.5_ENST00000532340.1_RNA	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	20					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CCTCTTCCTCACTGCCCTTGC	0.627													A|||	383	0.0764776	0.0628	0.098	5008	,	,		3883	0.0466		0.1491	False		,,,				2504	0.0358				p.T20A		Atlas-SNP	.											.	SLC39A13	18	.	0			c.A58G						PASS	.	A	ALA/THR,ALA/THR	370,4020		15,340,1840	53	60	58		58,58	-1.2	0.1	11	dbSNP_129	58	1191,7375		97,997,3189	yes	missense,missense	SLC39A13	NM_001128225.2,NM_152264.4	58,58	112,1337,5029	GG,GA,AA		13.9038,8.4282,12.0485	benign,benign	20/372,20/365	47431703	1561,11395	2195	4283	6478	SO:0001583	missense	91252	exon2			TTCCTCACTGCCC		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.58A>G	11.37:g.47431703A>G	ENSP00000354689:p.Thr20Ala	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	123	58	0.471545	NM_152264	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	212	0.09706959706959707	42	0.08536585365853659	40	0.11049723756906077	18	0.03146853146853147	112	0.14775725593667546	A	10.11	1.260164	0.23051	0.084282	0.139038	ENSG00000165915	ENST00000533076;ENST00000531974;ENST00000531419;ENST00000531865;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000527091;ENST00000524928	T;T;T;T;T;T;T;T;T	0.70282	-0.47;1.01;1.03;-0.44;-0.33;-0.13;0.02;1.01;0.96	5.4	-1.24	0.09435	.	0.820829	0.10843	N	0.627968	T	0.00241	0.0007	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.12156	0.002;0.001;0.007	T	0.06862	-1.0803	9	0.08381	T	0.77	-2.3508	5.0379	0.14443	0.3836:0.0:0.4545:0.1619	rs61897432	20;20;20	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	A	20	ENSP00000434290:T20A;ENSP00000435845:T20A;ENSP00000432302:T20A;ENSP00000434684:T20A;ENSP00000354689:T20A;ENSP00000346956:T20A;ENSP00000432499:T20A;ENSP00000435076:T20A;ENSP00000437186:T20A	ENSP00000346956:T20A	T	+	1	0	SLC39A13	47388279	0.000000	0.05858	0.100000	0.21137	0.592000	0.36648	-0.111000	0.10807	0.052000	0.16007	0.459000	0.35465	ACT	A|0.882;G|0.118	0.118	strong		0.627	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		G	47431703	A	G	47431703	3	3	22	1	0	0	0	0	1	0	0	0	14616	159	6	2	60	2	SLC39A13	11	47431703	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	125118	47431703	87574813	6104	11212										
RAPSN	5913	hgsc.bcm.edu	37	chr11	47463220	47463220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacccagcagcgcctgcacCtgccccaggcggtttccgat	10	18	0	0	rs45603036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:47463220C>T	ENST00000298854.2	-	5	1068	c.855G>A	c.(853-855)caG>caA	p.Q285Q	RAPSN_ENST00000524487.1_Silent_p.Q232Q|RAPSN_ENST00000352508.3_Intron|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000528356.1_5'UTR|RAPSN_ENST00000529341.1_Intron	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	285					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCGCCTGCACCTGCCCCAGGC	0.647													C|||	358	0.0714856	0.0446	0.0951	5008	,	,		13668	0.0466		0.1501	False		,,,				2504	0.0358				p.Q285Q		Atlas-SNP	.											.	RAPSN	27	.	0			c.G855A						PASS	.	C	,	294,4108	152.2+/-185.9	7,280,1914	32	32	32		855,	2.8	1	11	dbSNP_127	32	1229,7367	238.2+/-269.8	97,1035,3166	no	coding-synonymous,intron	RAPSN	NM_005055.4,NM_032645.4	,	104,1315,5080	TT,TC,CC		14.2973,6.6788,11.7172	,	285/413,	47463220	1523,11475	2201	4298	6499	SO:0001819	synonymous_variant	5913	exon5			CTGCACCTGCCCC		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.855G>A	11.37:g.47463220C>T		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	242	118	0.487603	NM_005055	Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																			C|0.891;T|0.109	0.109	strong		0.647	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			T	47463220	C	T	47463220	2	4	22	1	0	0	0	0	0	0	0	1	13051	680	24	2		2	RAPSN	11	47463220	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31517	47463220	87543296	6105	11213										
PTPRJ	5795	hgsc.bcm.edu	37	chr11	48149352	48149352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctattcaggtttttgacGtcaccgctgtgaacatcagt	9	9	3	2	rs2229703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48149352G>A	ENST00000418331.2	+	7	1466	c.1114G>A	c.(1114-1116)Gtc>Atc	p.V372I	PTPRJ_ENST00000440289.2_Missense_Mutation_p.V372I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	372	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> I (in dbSNP:rs2229703).		contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.V372L(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTTTTTGACGTCACCGCTGT	0.498													G|||	156	0.0311502	0.1112	0.0115	5008	,	,		23784	0.0		0.0	False		,,,				2504	0.001				p.V372I		Atlas-SNP	.											PTPRJ_ENST00000418331,rectum,carcinoma,-1,5	PTPRJ	225	5	1	Substitution - Missense(1)	kidney(1)	c.G1114A						PASS	.	G	ILE/VAL,ILE/VAL	397,4005	197.7+/-221.8	9,379,1813	108	95	99		1114,1114	-11.5	0	11	dbSNP_98	99	4,8592	1.2+/-3.3	0,4,4294	yes	missense,missense	PTPRJ	NM_001098503.1,NM_002843.3	29,29	9,383,6107	AA,AG,GG		0.0465,9.0186,3.0851	benign,benign	372/540,372/1338	48149352	401,12597	2201	4298	6499	SO:0001583	missense	5795	exon7			TTTGACGTCACCG	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1114G>A	11.37:g.48149352G>A	ENSP00000400010:p.Val372Ile	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	96	38	0.395833	NM_001098503	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	53	0.024267399267399268	48	0.0975609756097561	5	0.013812154696132596	0	0.0	0	0.0	G	4.166	0.029336	0.08054	0.090186	4.65E-4	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.59906	0.23;0.23	5.75	-11.5	0.00074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00637	0.0021	N	0.04297	-0.235	0.09310	N	1	B;P	0.36027	0.035;0.533	B;B	0.34652	0.024;0.187	T	0.28713	-1.0035	9	0.23302	T	0.38	.	9.7949	0.40728	0.1072:0.3001:0.5182:0.0745	rs2229703;rs16905649;rs56484607;rs16905649	372;372	Q12913;Q6P4H4	PTPRJ_HUMAN;.	I	372	ENSP00000400010:V372I;ENSP00000409733:V372I	ENSP00000278456:V372I	V	+	1	0	PTPRJ	48105928	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.405000	0.02492	-3.757000	0.00111	-0.136000	0.14681	GTC	G|0.964;A|0.036	0.036	strong		0.498	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48149352	G	A	48149352	3	1	22	1	0	0	0	0	1	0	0	0	12804	1145	40	1	1140	1	PTPRJ	11	48149352	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	686132	48149352	86857164	6106	11214										
PTPRJ	5795	hgsc.bcm.edu	37	chr11	48166267	48166267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctgaaatacacgtatgaGgatttcaaaaagggagcctc	10	8	1	2	rs4752904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48166267G>C	ENST00000418331.2	+	13	2968	c.2616G>C	c.(2614-2616)gaG>gaC	p.E872D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	872	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> D (in dbSNP:rs4752904). {ECO:0000269|PubMed:12089527, ECO:0000269|PubMed:15378013, ECO:0000269|PubMed:7937872, ECO:0000269|PubMed:7994032}.		contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACACGTATGAGGATTTCAAAA	0.403													G|||	1839	0.367212	0.056	0.5908	5008	,	,		23017	0.3839		0.5835	False		,,,				2504	0.3896				p.E872D		Atlas-SNP	.											.	PTPRJ	225	.	0			c.G2616C	GRCh37	CM043073	PTPRJ	M	rs4752904	PASS	.	G	ASP/GLU	654,3748	277.5+/-273.7	49,556,1596	99	94	96		2616	-10.9	0	11	dbSNP_111	96	4952,3644	625.0+/-397.7	1407,2138,753	yes	missense	PTPRJ	NM_002843.3	45	1456,2694,2349	CC,CG,GG		42.3918,14.8569,43.1297	possibly-damaging	872/1338	48166267	5606,7392	2201	4298	6499	SO:0001583	missense	5795	exon13			GTATGAGGATTTC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2616G>C	11.37:g.48166267G>C	ENSP00000400010:p.Glu872Asp	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	117	60	0.512821	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	955	0.43727106227106227	39	0.07926829268292683	214	0.5911602209944752	252	0.4405594405594406	450	0.5936675461741425	G	4.648	0.120524	0.08881	0.148569	0.576082	ENSG00000149177	ENST00000418331	T	0.13657	2.57	5.45	-10.9	0.00192	Fibronectin, type III (2);	.	.	.	.	T	0.00012	0.0000	N	0.17082	0.46	0.21184	P	0.999766262	B	0.13145	0.007	B	0.11329	0.006	T	0.47535	-0.9110	8	0.02654	T	1	.	1.7439	0.02958	0.2538:0.0802:0.3284:0.3375	rs4752904;rs17789721;rs52831595;rs56898824;rs4752904	872	Q12913	PTPRJ_HUMAN	D	872	ENSP00000400010:E872D	ENSP00000400010:E872D	E	+	3	2	PTPRJ	48122843	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-4.356000	0.00247	-2.555000	0.00477	-0.911000	0.02809	GAG	G|0.569;C|0.431	0.431	strong		0.403	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			C	48166267	G	C	48166267	3	2	22	1	0	0	0	0	1	0	0	0	12804	991	35	4	2675	4	PTPRJ	11	48166267	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16915	48166267	86840249	6107	11215										
PTPRJ	5795	hgsc.bcm.edu	37	chr11	48166642	48166642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctatgtgtccttcagtcgCtactcagatgctgtttcctt	8	11	2	1	rs34300475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48166642C>T	ENST00000418331.2	+	14	3229	c.2877C>T	c.(2875-2877)cgC>cgT	p.R959R		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	959					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTTCAGTCGCTACTCAGATG	0.532													C|||	350	0.0698882	0.2564	0.013	5008	,	,		22420	0.0		0.002	False		,,,				2504	0.0				p.R959R		Atlas-SNP	.											.	PTPRJ	225	.	0			c.C2877T						PASS	.	C		789,3613	319.1+/-295.9	68,653,1480	164	145	151		2877	2.3	0	11	dbSNP_126	151	5,8591	3.0+/-9.4	0,5,4293	no	coding-synonymous	PTPRJ	NM_002843.3		68,658,5773	TT,TC,CC		0.0582,17.9237,6.1086		959/1338	48166642	794,12204	2201	4298	6499	SO:0001819	synonymous_variant	5795	exon14			CAGTCGCTACTCA	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2877C>T	11.37:g.48166642C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	198	100	0.50505	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	CCDS7945.1																																																																																			C|0.944;T|0.056	0.056	strong		0.532	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48166642	C	T	48166642	2	4	22	1	0	0	0	0	0	0	0	1	12804	784	28	2		2	PTPRJ	11	48166642	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	375	48166642	86839874	6108	11216										
OR4B1	119765	hgsc.bcm.edu	37	chr11	48239071	48239071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcacaaagccctctccaCctgtgcttctcacatcacag	7	16	3	0	rs12292056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48239071C>A	ENST00000309562.2	+	1	728	c.710C>A	c.(709-711)aCc>aAc	p.T237N		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	237			T -> N (in dbSNP:rs12292056).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T237N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCCTCTCCACCTGTGCTTCT	0.463													c|||	485	0.096845	0.1967	0.0605	5008	,	,		22492	0.0605		0.0785	False		,,,				2504	0.044				p.T237N		Atlas-SNP	.											OR4B1,NS,carcinoma,0,1	OR4B1	52	1	1	Substitution - Missense(1)	stomach(1)	c.C710A						PASS	.	C	ASN/THR	837,3565	331.8+/-302.1	85,667,1449	151	117	129		710	5.5	1	11	dbSNP_120	129	550,8046	150.6+/-205.5	17,516,3765	yes	missense	OR4B1	NM_001005470.1	65	102,1183,5214	AA,AC,CC		6.3983,19.0141,10.6709	probably-damaging	237/310	48239071	1387,11611	2201	4298	6499	SO:0001583	missense	119765	exon1			TCTCCACCTGTGC	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.710C>A	11.37:g.48239071C>A	ENSP00000311605:p.Thr237Asn	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	245	125	0.510204	NM_001005470	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	215	0.09844322344322344	109	0.22154471544715448	24	0.06629834254143646	31	0.05419580419580419	51	0.06728232189973615	C	23.3	4.393877	0.83011	0.190141	0.063983	ENSG00000175619	ENST00000309562	T	0.40476	1.03	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.00144	0.0004	H	0.98786	4.33	0.21553	P	0.999645381	D	0.89917	1.0	D	0.97110	1.0	T	0.41945	-0.9480	9	0.87932	D	0	.	16.9603	0.86271	0.0:1.0:0.0:0.0	rs12292056;rs52837392;rs57096167;rs12292056	237	Q8NGF8	OR4B1_HUMAN	N	237	ENSP00000311605:T237N	ENSP00000311605:T237N	T	+	2	0	OR4B1	48195647	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.906000	0.69900	2.595000	0.87683	0.502000	0.49764	ACC	C|0.890;A|0.110	0.110	strong		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		A	48239071	C	A	48239071	3	1	22	1	0	0	0	0	1	0	0	0	11044	507	18	4	712	4	OR4B1	11	48239071	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72429	48239071	86767445	6109	11217										
OR4X1	390113	hgsc.bcm.edu	37	chr11	48285424	48285424	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttaaaatatggttgctacAaacaatgtgactgaaataat	6	5	0	2	rs713323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48285424A>G	ENST00000320048.1	+	1	12	c.12A>G	c.(10-12)acA>acG	p.T4T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGTTGCTACAAACAATGTGA	0.428													A|||	80	0.0159744	0.0575	0.0058	5008	,	,		20768	0.0		0.0	False		,,,				2504	0.0				p.T4T		Atlas-SNP	.											.	OR4X1	75	.	0			c.A12G						PASS	.	A		203,4199	125.7+/-162.9	5,193,2003	94	90	91		12	-1.7	0	11	dbSNP_86	91	0,8596		0,0,4298	no	coding-synonymous	OR4X1	NM_001004726.1		5,193,6301	GG,GA,AA		0.0,4.6115,1.5618		4/306	48285424	203,12795	2201	4298	6499	SO:0001819	synonymous_variant	390113	exon1			TGCTACAAACAAT	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.12A>G	11.37:g.48285424A>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	167	82	0.491018	NM_001004726	Q6IF74	Silent	SNP	ENST00000320048.1	37	CCDS31487.1																																																																																			A|0.982;G|0.018	0.018	strong		0.428	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		G	48285424	A	G	48285424	2	3	22	1	0	0	0	0	0	0	0	1	11084	117	5	2		2	OR4X1	11	48285424	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46353	48285424	86721092	6110	11218										
OR4X1	390113	hgsc.bcm.edu	37	chr11	48286256	48286256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcacacctctcttaaacCctgtgatttactccttcagg	6	13	3	1	rs10838852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48286256C>T	ENST00000320048.1	+	1	844	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	282			P -> S (in dbSNP:rs10838852).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCTCTTAAACCCTGTGATTTA	0.413													C|||	1924	0.384185	0.1641	0.5807	5008	,	,		22893	0.3829		0.5696	False		,,,				2504	0.3528				p.P282S		Atlas-SNP	.											.	OR4X1	75	.	0			c.C844T						PASS	.	C	SER/PRO	959,3443	361.6+/-315.8	97,765,1339	84	79	81		844	4.3	1	11	dbSNP_120	81	4869,3727	618.2+/-396.8	1377,2115,806	yes	missense	OR4X1	NM_001004726.1	74	1474,2880,2145	TT,TC,CC		43.3574,21.7856,44.8377	probably-damaging	282/306	48286256	5828,7170	2201	4298	6499	SO:0001583	missense	390113	exon1			TTAAACCCTGTGA	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.844C>T	11.37:g.48286256C>T	ENSP00000321506:p.Pro282Ser	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	257	119	0.463035	NM_001004726	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	1002	0.45879120879120877	101	0.20528455284552846	210	0.580110497237569	251	0.4388111888111888	440	0.5804749340369393	C	13.59	2.283838	0.40394	0.217856	0.566426	ENSG00000176567	ENST00000320048	T	0.63417	-0.04	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	H	0.98314	4.2	0.34700	P	0.27333700000000005	D	0.89917	1.0	D	0.91635	0.999	T	0.48927	-0.8991	8	0.87932	D	0	.	14.6159	0.68547	0.0:1.0:0.0:0.0	rs10838852;rs17728056;rs60486813;rs10838852	282	Q8NH49	OR4X1_HUMAN	S	282	ENSP00000321506:P282S	ENSP00000321506:P282S	P	+	1	0	OR4X1	48242832	0.999000	0.42202	0.985000	0.45067	0.098000	0.18820	4.351000	0.59398	2.368000	0.80403	0.563000	0.77884	CCT	C|0.567;N|0.000	.	strong		0.413	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		T	48286256	C	T	48286256	3	4	22	1	0	0	0	0	1	0	0	0	11084	623	22	2	846	2	OR4X1	11	48286256	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	832	48286256	86720260	6111	11219										
OR4A47	403253	hgsc.bcm.edu	37	chr11	48510654	48510654	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagctctttatcgagcacAttttcggtgggtcagaggtc	11	11	2	1	rs7103557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48510654A>C	ENST00000446524.1	+	1	386	c.310A>C	c.(310-312)Att>Ctt	p.I104L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	104			I -> L (in dbSNP:rs7103557).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATCGAGCACATTTTCGGTGG	0.438													C|||	2406	0.480431	0.3767	0.5922	5008	,	,		20770	0.4474		0.6451	False		,,,				2504	0.4059				p.I104L		Atlas-SNP	.											.	OR4A47	72	.	0			c.A310C						PASS	.	C	LEU/ILE	1937,2465		433,1071,697	102	96	98		310	1	0.2	11	dbSNP_116	98	5345,3251		1663,2019,616	yes	missense	OR4A47	NM_001005512.2	5	2096,3090,1313	CC,CA,AA		37.8199,44.0027,43.976	benign	104/310	48510654	7282,5716	2201	4298	6499	SO:0001583	missense	403253	exon1			GAGCACATTTTCG	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.310A>C	11.37:g.48510654A>C	ENSP00000412752:p.Ile104Leu	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	183	98	0.535519	NM_001005512		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	1177	0.5389194139194139	182	0.3699186991869919	225	0.6215469613259669	282	0.493006993006993	488	0.6437994722955145	N	0.005	-2.152709	0.00325	0.440027	0.621801	ENSG00000237388	ENST00000446524	T	0.00695	5.83	4.82	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.394443	0.22074	N	0.064984	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03249	-1.1056	8	0.17369	T	0.5	.	4.3157	0.10991	0.1398:0.2725:0.0:0.5876	rs7103557;rs7103557	104	Q6IF82	O4A47_HUMAN	L	104	ENSP00000412752:I104L	ENSP00000412752:I104L	I	+	1	0	OR4A47	48467230	0.000000	0.05858	0.174000	0.22961	0.013000	0.08279	-2.133000	0.01308	-0.063000	0.13065	-1.375000	0.01183	ATT	A|0.441;C|0.559	0.559	strong		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		C	48510654	A	C	48510654	3	2	22	1	0	0	0	0	1	0	0	0	11042	217	8	5	312	5	OR4A47	11	48510654	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	224398	48510654	86495862	6112	11220										
OR4A47	403253	hgsc.bcm.edu	37	chr11	48510777	48510777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgttgtgctgctggtaGtgtcctgggttggaggattt	17	4	0	0	rs7103992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:48510777G>A	ENST00000446524.1	+	1	509	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	145			V -> M (in dbSNP:rs7103992).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCTGCTGGTAGTGTCCTGGGT	0.448													G|||	2406	0.480431	0.3767	0.5922	5008	,	,		20789	0.4474		0.6451	False		,,,				2504	0.4059				p.V145M		Atlas-SNP	.											.	OR4A47	72	.	0			c.G433A						PASS	.	G	MET/VAL	1939,2463		433,1073,695	126	109	115		433	2.7	0	11	dbSNP_116	115	5358,3238		1665,2028,605	no	missense	OR4A47	NM_001005512.2	21	2098,3101,1300	AA,AG,GG		37.6687,44.0482,43.8606	benign	145/310	48510777	7297,5701	2201	4298	6499	SO:0001583	missense	403253	exon1			CTGGTAGTGTCCT	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.433G>A	11.37:g.48510777G>A	ENSP00000412752:p.Val145Met	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	297	155	0.521886	NM_001005512		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	1175	0.538003663003663	182	0.3699186991869919	224	0.6187845303867403	282	0.493006993006993	487	0.6424802110817942	N	6.195	0.404118	0.11754	0.440482	0.623313	ENSG00000237388	ENST00000446524	T	0.39592	1.07	4.84	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.464403	0.18016	N	0.154387	T	0.00012	0.0000	L	0.49350	1.555	0.80722	P	0.0	P	0.44090	0.826	P	0.44359	0.447	T	0.41734	-0.9492	9	0.39692	T	0.17	.	4.9609	0.14066	0.1014:0.0:0.5026:0.396	rs7103992	145	Q6IF82	O4A47_HUMAN	M	145	ENSP00000412752:V145M	ENSP00000412752:V145M	V	+	1	0	OR4A47	48467353	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.261000	0.08694	0.948000	0.37687	0.511000	0.50034	GTG	G|0.441;A|0.559	0.559	strong		0.448	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		A	48510777	G	A	48510777	3	1	22	1	0	0	0	0	1	0	0	0	11042	1029	36	2	435	2	OR4A47	11	48510777	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	123	48510777	86495739	6113	11221										
OR4A5	81318	hgsc.bcm.edu	37	chr11	51411817	51411817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattgacaacaacagtgagGcctataaagtaggtgtcagt	10	7	1	2	rs144502772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:51411817G>A	ENST00000319760.6	-	1	631	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAACAGTGAGGCCTATAAAGT	0.428													.|||	30	0.00599042	0.0219	0.0014	5008	,	,		20435	0.0		0.0	False		,,,				2504	0.0				p.G193G		Atlas-SNP	.											.	OR4A5	116	.	0			c.C579T						PASS	.	G		102,4300		2,98,2101	62	55	57		579	-2.1	0.1	11	dbSNP_134	57	0,8590		0,0,4295	no	coding-synonymous	OR4A5	NM_001005272.3		2,98,6396	AA,AG,GG		0.0,2.3171,0.7851		193/316	51411817	102,12890	2201	4295	6496	SO:0001819	synonymous_variant	81318	exon1			AGTGAGGCCTATA	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.579C>T	11.37:g.51411817G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	105	58	0.552381	NM_001005272	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																			G|0.993;A|0.007	0.007	strong		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		A	51411817	G	A	51411817	2	1	22	1	0	0	0	0	0	0	0	1	11043	1190	42	2		2	OR4A5	11	51411817	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2901040	51411817	83594699	6114	11222										
OR4A5	81318	hgsc.bcm.edu	37	chr11	51412370	51412370	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagcccaggaggacaaatTctgtaatattgttattctgt	8	6	2	0	rs149177099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:51412370T>A	ENST00000319760.6	-	1	78	c.26A>T	c.(25-27)gAa>gTa	p.E9V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAGGACAAATTCTGTAATATT	0.423													.|||	42	0.00838658	0.0272	0.0086	5008	,	,		18603	0.0		0.0	False		,,,				2504	0.0				p.E9V		Atlas-SNP	.											OR4A5,NS,carcinoma,-1,1	OR4A5	116	1	0			c.A26T						PASS	.	T	VAL/GLU	130,4266		1,128,2069	28	27	27		26	2	0.3	11	dbSNP_134	27	6,8576		0,6,4285	no	missense	OR4A5	NM_001005272.3	121	1,134,6354	AA,AT,TT		0.0699,2.9572,1.0479	probably-damaging	9/316	51412370	136,12842	2198	4291	6489	SO:0001583	missense	81318	exon1			ACAAATTCTGTAA	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.26A>T	11.37:g.51412370T>A	ENSP00000367664:p.Glu9Val	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	88	38	0.431818	NM_001005272	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	13	0.005952380952380952	10	0.02032520325203252	3	0.008287292817679558	0	0.0	0	0.0	.	4.648	0.120435	0.08881	0.029572	6.99E-4	ENSG00000221840	ENST00000319760	T	0.01139	5.28	2.01	2.01	0.26516	.	0.000000	0.48286	D	0.000188	T	0.00845	0.0028	M	0.84511	2.7	0.09310	N	0.999991	P	0.35714	0.517	B	0.37833	0.259	T	0.24512	-1.0158	10	0.72032	D	0.01	.	7.9849	0.30205	0.0:0.0:0.0:1.0	.	9	Q8NH83	OR4A5_HUMAN	V	9	ENSP00000367664:E9V	ENSP00000367664:E9V	E	-	2	0	OR4A5	51268946	0.027000	0.19231	0.318000	0.25279	0.086000	0.17979	1.684000	0.37649	1.181000	0.42912	0.136000	0.15936	GAA	T|0.990;A|0.010	0.010	strong		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		A	51412370	T	A	51412370	3	1	22	1	0	0	0	0	1	0	0	0	11043	1783	62	5	925	5	OR4A5	11	51412370	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	553	51412370	83594146	6115	11223										
OR4C46	119749	hgsc.bcm.edu	37	chr11	51515413	51515441	+	Frame_Shift_Del	DEL	GGTCACCATCACTGCCAGCCCATCACTGG	GGTCACCATCACTGCCAGCCCATCACTGG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggatatgtgctcattgtGgtcaccatcactgccagccc					rs372979385|rs142892443|rs148928414|rs151059393|rs545486160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGTCACCATCACTGCCAGCCCATCACTGG	GGTCACCATCACTGCCAGCCCATCACTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:51515413_51515441delGGTCACCATCACTGCCAGCCCATCACTGG	ENST00000328188.1	+	1	132_160	c.132_160delGGTCACCATCACTGCCAGCCCATCACTGG	c.(130-162)gtggtcaccatcactgccagcccatcactggggfs	p.VTITASPSLG45fs		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P51Q(2)|p.V45fs*35(1)|p.G54W(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCTCATTGTGGTCACCATCACTGCCAGCCCATCACTGGGGTCCCCCAT	0.445														96	0.0191693	0.0673	0.0101	5008	,	,		22740	0.0		0.0	False		,,,				2504	0.0				p.44_53del		Pindel,Atlas-Indel	.											OR4C46,colon,carcinoma,0,1	OR4C46	96	1	4	Substitution - Missense(3)|Deletion - Frameshift(1)	lung(4)	c.131_159del						PASS	.			322,3942		8,306,1818						1.5	0			233	9,8245		0,9,4118	no	frameshift	OR4C46	NM_001004703.1		8,315,5936	A1A1,A1R,RR		0.109,7.5516,2.6442				331,12187				SO:0001589	frameshift_variant	119749	exon1			.		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.132_160delGGTCACCATCACTGCCAGCCCATCACTGG	11.37:g.51515413_51515441delGGTCACCATCACTGCCAGCCCATCACTGG	ENSP00000329056:p.Val45fs	Somatic	212	.	.		WXS	Illumina HiSeq	Phase_I	117	74	0.632	NM_001004703		Frame_Shift_Del	DEL	ENST00000328188.1	37	CCDS31498.1																																																																																			.	.	none		0.445	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		-	51515441	GGTCACCATCACTGCCAGCCCATCACTGG	-	51515413	7	5	22	1	0	1	0	1	0	0	0	0	11051	1335	47	0	134	0	OR4C46	11	51515413	Frame_Shift_Del	DEL	GGTCACCATCACTGCCAGCCCATCACTGG	TCGA-G8-6324-01A-11D-2210-10	103043	51515413	83491103	6116	11224										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55029787	55029787	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccttcaaagaacccagcGgtgagtgaaacttatattga	8	9	1	4	rs12799381	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55029787G>A	ENST00000417545.2	+	1	130	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	0						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R15Q(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGAACCCAGCGGTGAGTGAAA	0.333													.|||	496	0.0990415	0.1505	0.049	5008	,	,		17203	0.0853		0.1113	False		,,,				2504	0.0665				p.R15Q		Atlas-SNP	.											TRIM48_ENST00000417545,caecum,carcinoma,+1,2	TRIM48	149	2	1	Substitution - Missense(1)	stomach(1)	c.G44A						PASS	.	G	GLN/ARG	205,1179		16,173,503	41	36	38		44	-0.8	0	11	dbSNP_121	38	343,2839		19,305,1267	no	missense-near-splice	TRIM48	NM_024114.3	43	35,478,1770	AA,AG,GG		10.7794,14.8121,12.0018		15/225	55029787	548,4018	692	1591	2283	SO:0001630	splice_region_variant	79097	exon1			CCCAGCGGTGAGT	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.44+1G>A	11.37:g.55029787G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	161	82	0.509317	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	227	0.10393772893772894	87	0.17682926829268292	22	0.06077348066298342	35	0.06118881118881119	83	0.10949868073878628	.	6.705	0.498677	0.12762	0.148121	0.107794	ENSG00000150244	ENST00000417545	T	0.73047	-0.71	0.41	-0.821	0.10822	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.11155	-1.0599	4	0.41790	T	0.15	.	.	.	.	rs12799381	.	.	.	Q	15	ENSP00000402414:R15Q	ENSP00000402414:R15Q	R	+	2	0	TRIM48	54786363	0.006000	0.16342	0.028000	0.17463	0.009000	0.06853	0.470000	0.22084	-0.494000	0.06669	-1.202000	0.01658	CGA	G|0.891;A|0.109	0.109	strong		0.333	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1		Missense_Mutation	A	55029787	G	A	55029787	5	1	22	1	0	0	0	0	0	0	1	0	16520	1130	39	1	46	1	TRIM48	11	55029787	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3514374	55029787	79976729	6117	11225										
OR4A16	81327	hgsc.bcm.edu	37	chr11	55110989	55110989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcttcatagaacacttaCttggtggtgcagaggtcttc	10	9	3	2	rs116541488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55110989C>G	ENST00000314721.2	+	1	363	c.313C>G	c.(313-315)Ctt>Gtt	p.L105V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGAACACTTACTTGGTGGTGC	0.448													.|||	50	0.00998403	0.0333	0.0086	5008	,	,		22391	0.0		0.0	False		,,,				2504	0.0				p.L105V		Atlas-SNP	.											.	OR4A16	120	.	0			c.C313G						PASS	.	C	VAL/LEU	142,4260	100.3+/-138.9	1,140,2060	201	188	192		313	1.4	0.2	11	dbSNP_132	192	5,8587	5.0+/-18.6	0,5,4291	yes	missense	OR4A16	NM_001005274.1	32	1,145,6351	GG,GC,CC		0.0582,3.2258,1.1313	benign	105/329	55110989	147,12847	2201	4296	6497	SO:0001583	missense	81327	exon1			CACTTACTTGGTG	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.313C>G	11.37:g.55110989C>G	ENSP00000325128:p.Leu105Val	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	289	128	0.442907	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	16	0.007326007326007326	13	0.026422764227642278	3	0.008287292817679558	0	0.0	0	0.0	c	0.720	-0.783973	0.02907	0.032258	5.82E-4	ENSG00000181961	ENST00000314721	T	0.00700	5.82	2.57	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	L	0.41079	1.255	0.09310	N	1	B	0.25007	0.116	B	0.29353	0.101	T	0.48658	-0.9016	9	0.87932	D	0	.	4.5335	0.12017	0.0:0.3127:0.0:0.6873	.	105	Q8NH70	O4A16_HUMAN	V	105	ENSP00000325128:L105V	ENSP00000325128:L105V	L	+	1	0	OR4A16	54867565	0.036000	0.19791	0.157000	0.22605	0.029000	0.11900	0.995000	0.29706	0.240000	0.21263	-0.664000	0.03847	CTT	C|0.988;G|0.012	0.012	strong		0.448	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		G	55110989	C	G	55110989	3	3	22	1	0	0	0	0	1	0	0	0	11041	565	20	4	315	4	OR4A16	11	55110989	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81202	55110989	79895527	6118	11226										
OR4C15	81309	hgsc.bcm.edu	37	chr11	55322211	55322211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactccctctatgtgacaaaAaccatctcttttgaaggctg	7	11	2	2	rs9804659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55322211A>G	ENST00000314644.2	+	1	429	c.429A>G	c.(427-429)aaA>aaG	p.K143K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGTGACAAAAACCATCTCTT	0.478										HNSCC(20;0.049)			a|||	1265	0.252596	0.1014	0.3242	5008	,	,		19759	0.3919		0.2833	False		,,,				2504	0.2311				p.K143K		Atlas-SNP	.											.	OR4C15	145	.	0			c.A429G						PASS	.	A		561,3841	252.1+/-258.6	27,507,1667	159	140	146		429	2.8	1	11	dbSNP_119	146	2288,6304	385.5+/-341.5	329,1630,2337	no	coding-synonymous	OR4C15	NM_001001920.1		356,2137,4004	GG,GA,AA		26.6294,12.7442,21.9255		143/371	55322211	2849,10145	2201	4296	6497	SO:0001819	synonymous_variant	81309	exon1			GACAAAAACCATC	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.429A>G	11.37:g.55322211A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	103	56	0.543689	NM_001001920	Q6IFE2	Silent	SNP	ENST00000314644.2	37	CCDS31501.1																																																																																			A|0.760;G|0.240	0.240	strong		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		G	55322211	A	G	55322211	2	3	22	1	0	0	0	0	0	0	0	1	11048	11	1	2		2	OR4C15	11	55322211	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	211222	55322211	79684305	6119	11227										
OR4C16	219428	hgsc.bcm.edu	37	chr11	55339652	55339652	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattctgcttggattgacaCaggatcctttttggaagaaa	9	7	2	2	rs1459101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55339652C>T	ENST00000314634.3	+	1	49	c.49C>T	c.(49-51)Cag>Tag	p.Q17*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGATTGACACAGGATCCTTT	0.388													c|||	1265	0.252596	0.1014	0.3242	5008	,	,		18829	0.3909		0.2843	False		,,,				2504	0.2311				p.Q17X		Atlas-SNP	.											OR4C16,NS,carcinoma,-2,1	OR4C16	104	1	0			c.C49T						scavenged	.	C	stop/GLN	561,3841	252.1+/-258.6	27,507,1667	132	122	125		49	0.8	0	11	dbSNP_88	125	2290,6302	386.3+/-341.8	329,1632,2335	yes	stop-gained	OR4C16	NM_001004701.2		356,2139,4002	TT,TC,CC		26.6527,12.7442,21.9409		17/311	55339652	2851,10143	2201	4296	6497	SO:0001587	stop_gained	219428	exon1			TTGACACAGGATC	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.49C>T	11.37:g.55339652C>T	ENSP00000324913:p.Gln17*	Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	164	79	0.481707	NM_001004701	Q6IEV8	Nonsense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	605	0.27701465201465203	47	0.09552845528455285	126	0.34806629834254144	214	0.3741258741258741	218	0.287598944591029	C	15.62	2.886232	0.51908	0.127442	0.266527	ENSG00000181935	ENST00000314634	.	.	.	4.98	0.756	0.18421	.	0.325431	0.26677	N	0.023065	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.4911	0.16777	0.0:0.5122:0.3092:0.1786	rs1459101;rs52825307;rs60632881;rs1459101	.	.	.	X	17	.	ENSP00000324913:Q17X	Q	+	1	0	OR4C16	55096228	0.000000	0.05858	0.017000	0.16124	0.810000	0.45777	-1.242000	0.02908	0.253000	0.21552	0.549000	0.68633	CAG	C|0.759;T|0.241	0.241	strong		0.388	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		T	55339652	C	T	55339652	4	4	22	1	0	0	0	0	0	1	0	0	11049	479	17	2	51	2	OR4C16	11	55339652	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17441	55339652	79666864	6120	11228										
OR4C16	219428	hgsc.bcm.edu	37	chr11	55340057	55340057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcctgggtgggatcctgtGtgcattctttagttcagatt	13	7	2	1	rs144962866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55340057G>A	ENST00000314634.3	+	1	454	c.454G>A	c.(454-456)Gtg>Atg	p.V152M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGGATCCTGTGTGCATTCTTT	0.488													g|||	34	0.00678914	0.025	0.0014	5008	,	,		19716	0.0		0.0	False		,,,				2504	0.0				p.V152M		Atlas-SNP	.											.	OR4C16	104	.	0			c.G454A						PASS	.	G	MET/VAL	101,4301	79.9+/-118.3	2,97,2102	149	137	141		454	-2.6	0.3	11	dbSNP_134	141	0,8592		0,0,4296	yes	missense	OR4C16	NM_001004701.2	21	2,97,6398	AA,AG,GG		0.0,2.2944,0.7773	benign	152/311	55340057	101,12893	2201	4296	6497	SO:0001583	missense	219428	exon1			TCCTGTGTGCATT	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.454G>A	11.37:g.55340057G>A	ENSP00000324913:p.Val152Met	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	159	85	0.534591	NM_001004701	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	9.386	1.074257	0.20227	0.022944	0.0	ENSG00000181935	ENST00000314634	T	0.39997	1.05	4.83	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.267871	0.27139	N	0.020760	T	0.16428	0.0395	L	0.39566	1.225	0.09310	N	1	B	0.18461	0.028	B	0.32211	0.142	T	0.25363	-1.0134	10	0.62326	D	0.03	.	5.5455	0.17061	0.4732:0.1409:0.3859:0.0	.	152	Q8NGL9	OR4CG_HUMAN	M	152	ENSP00000324913:V152M	ENSP00000324913:V152M	V	+	1	0	OR4C16	55096633	0.000000	0.05858	0.326000	0.25389	0.412000	0.31113	-3.095000	0.00607	-0.293000	0.08986	-0.272000	0.10252	GTG	G|0.994;A|0.006	0.006	strong		0.488	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55340057	G	A	55340057	3	1	22	1	0	0	0	0	1	0	0	0	11049	1377	48	2	456	2	OR4C16	11	55340057	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	405	55340057	79666459	6121	11229										
OR4S2	219431	hgsc.bcm.edu	37	chr11	55419147	55419147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccctgtacttttatgtaCatgcgccctgatacgacctt	8	13	0	1	rs74538149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55419147C>T	ENST00000312422.2	+	1	768	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTTTTATGTACATGCGCCCTG	0.463													c|||	56	0.0111821	0.0416	0.0014	5008	,	,		14395	0.0		0.0	False		,,,				2504	0.0				p.Y256Y		Atlas-SNP	.											.	OR4S2	89	.	0			c.C768T						PASS	.	C		169,4189		21,127,2031	161	136	145		768	0.1	1	11	dbSNP_132	145	3,8047		0,3,4022	yes	coding-synonymous	OR4S2	NM_001004059.2		21,130,6053	TT,TC,CC		0.0373,3.8779,1.3862		256/312	55419147	172,12236	2179	4025	6204	SO:0001819	synonymous_variant	219431	exon1			TATGTACATGCGC	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.768C>T	11.37:g.55419147C>T		Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	73	72	0.986301	NM_001004059	Q6IF72	Silent	SNP	ENST00000312422.2	37	CCDS31505.1																																																																																			C|0.988;T|0.012	0.012	strong		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		T	55419147	C	T	55419147	2	4	22	1	0	0	0	0	0	0	0	1	11083	489	17	2		2	OR4S2	11	55419147	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79090	55419147	79587369	6122	11230										
OR5D14	219436	hgsc.bcm.edu	37	chr11	55563602	55563602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctctcatctctgtgtctGgctctgatatactcatcccc	6	15	5	1	rs68042892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55563602G>A	ENST00000335605.1	+	1	571	c.571G>A	c.(571-573)Ggc>Agc	p.G191S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G191S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTCTGTGTCTGGCTCTGATAT	0.438													N|||	525	0.104832	0.1884	0.0461	5008	,	,		20460	0.0813		0.0924	False		,,,				2504	0.0706				p.G191S		Atlas-SNP	.											OR5D14,NS,carcinoma,0,1	OR5D14	116	1	1	Substitution - Missense(1)	stomach(1)	c.G571A						PASS	.	A	SER/GLY	670,3730	763.2+/-413.2	63,544,1593	213	207	209		571	-1	0	11	dbSNP_130	209	727,7865	786.0+/-407.6	32,663,3601	yes	missense	OR5D14	NM_001004735.1	56	95,1207,5194	AA,AG,GG		8.4614,15.2273,10.7528	benign	191/315	55563602	1397,11595	2200	4296	6496	SO:0001583	missense	219436	exon1			GTGTCTGGCTCTG	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.571G>A	11.37:g.55563602G>A	ENSP00000334456:p.Gly191Ser	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	315	157	0.498413	NM_001004735	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	213	0.09752747252747253	92	0.18699186991869918	21	0.058011049723756904	35	0.06118881118881119	65	0.08575197889182058	a	6.430	0.447491	0.12223	0.152273	0.084614	ENSG00000186113	ENST00000335605	T	0.00048	8.82	5.08	-0.978	0.10279	GPCR, rhodopsin-like superfamily (1);	0.566189	0.16176	N	0.226056	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05115	-1.0905	9	0.59425	D	0.04	-3.1471	7.6783	0.28499	0.2259:0.0:0.0843:0.6898	.	191	Q8NGL3	OR5DE_HUMAN	S	191	ENSP00000334456:G191S	ENSP00000334456:G191S	G	+	1	0	OR5D14	55320178	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	0.417000	0.21214	-0.350000	0.08262	-1.237000	0.01550	GGC	G|0.896;A|0.104	0.104	strong		0.438	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		A	55563602	G	A	55563602	3	1	22	1	0	0	0	0	1	0	0	0	11155	1348	47	2	573	2	OR5D14	11	55563602	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	144455	55563602	79442914	6123	11231										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55578987	55578987	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctgagttcattctcctTggactatcagatgtccctga					rs386753698|rs67727364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55578987T>C	ENST00000333973.2	+	1	134	c.45T>C	c.(43-45)ctT>ctC	p.L15L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L15L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCATTCTCCTTGGACTATCAG	0.433													N|||	525	0.104832	0.1884	0.0461	5008	,	,		18304	0.0813		0.0924	False		,,,				2504	0.0706				p.L15L		Atlas-SNP	.											OR5L1,NS,carcinoma,0,1	OR5L1	145	1	1	Substitution - coding silent(1)	stomach(1)	c.T45C						scavenged	.	C		670,3730		63,544,1593	201	191	194		45	-2.8	0	11	dbSNP_130	194	724,7862		32,660,3601	no	coding-synonymous	OR5L1	NM_001004738.1		95,1204,5194	CC,CT,TT		8.4323,15.2273,10.7346		15/312	55578987	1394,11592	2200	4293	6493	SO:0001819	synonymous_variant	219437	exon1			TCTCCTTGGACTA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.45T>C	11.37:g.55578987T>C		Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	113	63	0.557522	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			T|0.898;C|0.102	0.102	strong		0.433	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55578987	T	C	55578987	2	2	22	1	0	0	0	0	0	0	0	1	11170	1799	63	2		2	OR5L1	11	55578987	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15385	55578987	79427529	6124	11232	228	2								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55578991	55578991	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagttcattctccttggaCtatcagatgtccctgagttg					rs61732387|rs386753698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55578991C>T	ENST00000333973.2	+	1	138	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTCCTTGGACTATCAGATGT	0.438													N|||	525	0.104832	0.1884	0.0461	5008	,	,		18141	0.0813		0.0924	False		,,,				2504	0.0706				p.L17L		Atlas-SNP	.											OR5L1,NS,carcinoma,0,1	OR5L1	145	1	1	Substitution - coding silent(1)	stomach(1)	c.C49T						PASS	.	T		670,3730	763.4+/-413.2	63,544,1593	208	196	200		49	-2	0	11	dbSNP_130	200	724,7862	785.1+/-407.6	32,660,3601	no	coding-synonymous	OR5L1	NM_001004738.1		95,1204,5194	TT,TC,CC		8.4323,15.2273,10.7346		17/312	55578991	1394,11592	2200	4293	6493	SO:0001819	synonymous_variant	219437	exon1			CTTGGACTATCAG	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.49C>T	11.37:g.55578991C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	117	66	0.564103	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			C|0.899;T|0.101	0.101	strong		0.438	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55578991	C	T	55578991	2	4	22	1	0	0	0	0	0	0	0	1	11170	564	20	2		2	OR5L1	11	55578991	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	55578991	79427525	6125	11233	228	2								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579068	55579068	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtcacgttgttagccaaCctgggcatgattgcactgat					rs575553149		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579068C>T	ENST00000333973.2	+	1	215	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTTAGCCAACCTGGGCATGA	0.498																																					p.N42N		Atlas-SNP	.											OR5L1,colon,carcinoma,0,3	OR5L1	145	3	0			c.C126T						scavenged	.						325	285	299					11																	55579068		2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			AGCCAACCTGGGC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.126C>T	11.37:g.55579068C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	214	8	0.0373832	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			.	.	none		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579068	C	T	55579068	2	4	22	1	0	0	0	0	0	0	0	1	11170	506	18	2		2	OR5L1	11	55579068	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77	55579068	79427448	6126	11234	229	2								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579078	55579078	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttagccaacctgggcatgAttgcactgattcaggtcagc					rs2869020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579078A>T	ENST00000333973.2	+	1	225	c.136A>T	c.(136-138)Att>Ttt	p.I46F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	46			I -> F (in dbSNP:rs2869020).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTGGGCATGATTGCACTGAT	0.493													N|||	121	0.0241613	0.0862	0.0101	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0				p.I46F		Atlas-SNP	.											.	OR5L1	145	.	0			c.A136T						PASS	.	A	PHE/ILE	307,4093	167.3+/-198.3	16,275,1909	330	288	302		136	0.6	0.1	11	dbSNP_101	302	6,8586	5.7+/-21.5	0,6,4290	yes	missense	OR5L1	NM_001004738.1	21	16,281,6199	TT,TA,AA		0.0698,6.9773,2.4092	benign	46/312	55579078	313,12679	2200	4296	6496	SO:0001583	missense	219437	exon1			GGCATGATTGCAC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.136A>T	11.37:g.55579078A>T	ENSP00000335529:p.Ile46Phe	Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	238	107	0.44958	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	43	0.019688644688644688	39	0.07926829268292683	4	0.011049723756906077	0	0.0	0	0.0	a	12.72	2.022276	0.35701	0.069773	6.98E-4	ENSG00000186117	ENST00000333973	T	0.00638	6.04	4.32	0.548	0.17208	GPCR, rhodopsin-like superfamily (1);	0.454491	0.18670	N	0.134475	T	0.00109	0.0003	M	0.84219	2.685	0.09310	N	1	B	0.29612	0.251	B	0.35039	0.194	T	0.39603	-0.9606	10	0.87932	D	0	-7.0075	8.3108	0.32071	0.6568:0.0:0.3432:0.0	rs2869020;rs52812745;rs2869020	46	Q8NGL2	OR5L1_HUMAN	F	46	ENSP00000335529:I46F	ENSP00000335529:I46F	I	+	1	0	OR5L1	55335654	0.000000	0.05858	0.057000	0.19452	0.019000	0.09904	-0.143000	0.10296	-0.167000	0.10871	0.358000	0.22013	ATT	A|0.976;T|0.024	0.024	strong		0.493	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579078	A	T	55579078	3	4	22	1	0	0	0	0	1	0	0	0	11170	333	12	5	138	5	OR5L1	11	55579078	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10	55579078	79427438	6127	11235	229	2								
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579102	55579102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgattcaggtcagctctCggctccacacccccatgtac	7	17	3	1	rs34961497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579102C>T	ENST00000333973.2	+	1	249	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	54			R -> W (in dbSNP:rs34961497).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.468													N|||	448	0.0894569	0.1309	0.0432	5008	,	,		20175	0.0813		0.0924	False		,,,				2504	0.0716				p.R54W		Atlas-SNP	.											OR5L1,NS,carcinoma,-1,1	OR5L1	145	1	0			c.C160T						PASS	.	C	TRP/ARG	518,3882	235.5+/-248.0	32,454,1714	311	273	286		160	-4.8	0	11	dbSNP_126	286	716,7876	175.0+/-225.2	26,664,3606	no	missense	OR5L1	NM_001004738.1	101	58,1118,5320	TT,TC,CC		8.3333,11.7727,9.4982	probably-damaging	54/312	55579102	1234,11758	2200	4296	6496	SO:0001583	missense	219437	exon1			AGCTCTCGGCTCC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.160C>T	11.37:g.55579102C>T	ENSP00000335529:p.Arg54Trp	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	276	131	0.474638	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	199	0.09111721611721611	78	0.15853658536585366	20	0.055248618784530384	36	0.06293706293706294	65	0.08575197889182058	c	14.43	2.533746	0.45073	0.117727	0.083333	ENSG00000186117	ENST00000333973	T	0.01152	5.26	4.32	-4.81	0.03180	GPCR, rhodopsin-like superfamily (1);	1.504320	0.04361	N	0.357399	T	0.00012	0.0000	M	0.87097	2.86	0.80722	P	0.0	D	0.59767	0.986	P	0.46339	0.513	T	0.33979	-0.9847	9	0.87932	D	0	9.4321	9.3255	0.37990	0.4691:0.2081:0.3227:0.0	rs34961497;rs61998195	54	Q8NGL2	OR5L1_HUMAN	W	54	ENSP00000335529:R54W	ENSP00000335529:R54W	R	+	1	2	OR5L1	55335678	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.488000	0.06497	-0.824000	0.04295	-0.575000	0.04146	CGG	C|0.907;T|0.093	0.093	strong		0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579102	C	T	55579102	3	4	22	1	0	0	0	0	1	0	0	0	11170	875	31	1	162	1	OR5L1	11	55579102	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24	55579102	79427414	6128	11236										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579182	55579182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaataattgtgccaaaAatgttggctaatatctttaa	5	7	2	0	rs139708815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579182A>G	ENST00000333973.2	+	1	329	c.240A>G	c.(238-240)aaA>aaG	p.K80K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGTGCCAAAAATGTTGGCTA	0.458																																					p.K80K		Atlas-SNP	.											OR5L1,NS,carcinoma,0,3	OR5L1	145	3	1	Substitution - coding silent(1)	pancreas(1)	c.A240G						PASS	.						234	216	222					11																	55579182		2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			GCCAAAAATGTTG	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.240A>G	11.37:g.55579182A>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	204	12	0.0588235	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			A|1.000;G|0.000	0.000	strong		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		G	55579182	A	G	55579182	2	3	22	1	0	0	0	0	0	0	0	1	11170	11	1	2		2	OR5L1	11	55579182	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	80	55579182	79427334	6129	11237										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579419	55579419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtgtgttctctgattcaTttgtgcttagctcttaggat	10	7	3	1	rs34948392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579419T>C	ENST00000333973.2	+	1	566	c.477T>C	c.(475-477)caT>caC	p.H159H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H159H(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCTGATTCATTTGTGCTTAG	0.443													N|||	525	0.104832	0.1884	0.0461	5008	,	,		22589	0.0813		0.0924	False		,,,				2504	0.0706				p.H159H		Atlas-SNP	.											OR5L1,NS,carcinoma,+2,3	OR5L1	145	3	1	Substitution - coding silent(1)	stomach(1)	c.T477C						PASS	.	C		670,3730		63,544,1593	217	191	200		477	-4.7	0	11	dbSNP_126	200	725,7867		32,661,3603	no	coding-synonymous	OR5L1	NM_001004738.1		95,1205,5196	CC,CT,TT		8.4381,15.2273,10.7374		159/312	55579419	1395,11597	2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			GATTCATTTGTGC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.477T>C	11.37:g.55579419T>C		Somatic	402	0	0		WXS	Illumina HiSeq	Phase_I	489	236	0.482618	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			T|0.896;C|0.104	0.104	strong		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579419	T	C	55579419	2	2	22	1	0	0	0	0	0	0	0	1	11170	1490	52	2		2	OR5L1	11	55579419	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	237	55579419	79427097	6130	11238										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579801	55579801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtgattcctatgctgaacTctgtgatctacagcctgaga	9	10	2	4	rs12790505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55579801T>C	ENST00000333973.2	+	1	948	c.859T>C	c.(859-861)Tct>Cct	p.S287P		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	287			S -> P (in dbSNP:rs12790505).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S287P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATGCTGAACTCTGTGATCTA	0.433													N|||	525	0.104832	0.1884	0.0461	5008	,	,		15985	0.0813		0.0924	False		,,,				2504	0.0706				p.S287P		Atlas-SNP	.											OR5L1,NS,carcinoma,0,1	OR5L1	145	1	1	Substitution - Missense(1)	stomach(1)	c.T859C						PASS	.	C	PRO/SER	669,3731		63,543,1594	56	54	55		859	4.1	0.9	11	dbSNP_121	55	726,7866		32,662,3602	yes	missense	OR5L1	NM_001004738.1	74	95,1205,5196	CC,CT,TT		8.4497,15.2045,10.7374	benign	287/312	55579801	1395,11597	2200	4296	6496	SO:0001583	missense	219437	exon1			CTGAACTCTGTGA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.859T>C	11.37:g.55579801T>C	ENSP00000335529:p.Ser287Pro	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	175	79	0.451429	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	213	0.09752747252747253	92	0.18699186991869918	21	0.058011049723756904	35	0.06118881118881119	65	0.08575197889182058	N	0.453	-0.892792	0.02491	0.152045	0.084497	ENSG00000186117	ENST00000333973	T	0.14516	2.5	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	N	0.000079	T	0.00012	0.0000	N	0.00001	-3.64	0.49213	P	2.4000000000001798E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.37663	-0.9696	9	0.02654	T	1	-51.3685	11.1525	0.48466	0.0:0.9065:0.0:0.0935	rs12790505;rs52821601;rs12790505	287	Q8NGL2	OR5L1_HUMAN	P	287	ENSP00000335529:S287P	ENSP00000335529:S287P	S	+	1	0	OR5L1	55336377	0.997000	0.39634	0.884000	0.34674	0.299000	0.27559	3.578000	0.53892	0.738000	0.32606	-0.984000	0.02558	TCT	T|0.888;C|0.112	0.112	strong		0.433	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579801	T	C	55579801	3	2	22	1	0	0	0	0	1	0	0	0	11170	1551	54	3	861	3	OR5L1	11	55579801	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	382	55579801	79426715	6131	11239										
OR5D18	219438	hgsc.bcm.edu	37	chr11	55587591	55587591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttccttggaactgacgtgCtctgctttaaagttatgttt	9	7	1	1	rs142792552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55587591C>T	ENST00000333976.4	+	1	506	c.486C>T	c.(484-486)tgC>tgT	p.C162C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	162						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(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AACTGACGTGCTCTGCTTTAA	0.453													N|||	7	0.00139776	0.0053	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0				p.C162C		Atlas-SNP	.											.	OR5D18	121	.	0			c.C486T						PASS	.	C		43,4357		0,43,2157	203	189	193		486	-0.8	0.2	11	dbSNP_134	193	0,8592		0,0,4296	no	coding-synonymous	OR5D18	NM_001001952.1		0,43,6453	TT,TC,CC		0.0,0.9773,0.331		162/314	55587591	43,12949	2200	4296	6496	SO:0001819	synonymous_variant	219438	exon1			GACGTGCTCTGCT	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.486C>T	11.37:g.55587591C>T		Somatic	309	1	0.00323625		WXS	Illumina HiSeq	Phase_I	345	163	0.472464	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	CCDS31510.1																																																																																			C|0.997;T|0.003	0.003	strong		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		T	55587591	C	T	55587591	2	4	22	1	0	0	0	0	0	0	0	1	11157	805	28	2		2	OR5D18	11	55587591	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7790	55587591	79418925	6132	11240										
OR5L2	26338	hgsc.bcm.edu	37	chr11	55594869	55594869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctcggctccacacccccGtgtactttttcctcagccac	6	19	2	0	rs56711116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55594869G>A	ENST00000378397.1	+	1	175	c.175G>A	c.(175-177)Gtg>Atg	p.V59M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	59			V -> M (in dbSNP:rs56711116).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V59M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCACACCCCCGTGTACTTTTT	0.468										HNSCC(27;0.073)			N|||	537	0.107228	0.1952	0.0461	5008	,	,		20056	0.0843		0.0924	False		,,,				2504	0.0706				p.V59M		Atlas-SNP	.											OR5L2,colon,carcinoma,0,2	OR5L2	135	2	1	Substitution - Missense(1)	stomach(1)	c.G175A						PASS	.	A	MET/VAL	658,3742		64,530,1606	244	226	232		175	5.3	1	11	dbSNP_129	232	702,7890		32,638,3626	no	missense	OR5L2	NM_001004739.1	21	96,1168,5232	AA,AG,GG		8.1704,14.9545,10.468	benign	59/312	55594869	1360,11632	2200	4296	6496	SO:0001583	missense	26338	exon1			ACCCCCGTGTACT	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.175G>A	11.37:g.55594869G>A	ENSP00000367650:p.Val59Met	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	283	149	0.526502	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	169	0.07738095238095238	62	0.12601626016260162	19	0.052486187845303865	35	0.06118881118881119	53	0.06992084432717678	.	1.359	-0.589350	0.03799	0.149545	0.081704	ENSG00000205030	ENST00000378397	T	0.01197	5.19	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00005	-3.255	0.53005	P	3.6999999999953737E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.25882	-1.0119	9	0.02654	T	1	-56.956	10.8374	0.46696	0.9241:0.0:0.0759:0.0	rs56711116;rs61739473	59	Q8NGL0	OR5L2_HUMAN	M	59	ENSP00000367650:V59M	ENSP00000367650:V59M	V	+	1	0	OR5L2	55351445	1.000000	0.71417	0.999000	0.59377	0.249000	0.25844	3.918000	0.56432	0.965000	0.38133	-0.377000	0.06932	GTG	G|0.901;A|0.099	0.099	strong		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		A	55594869	G	A	55594869	3	1	22	1	0	0	0	0	1	0	0	0	11171	1145	40	1	177	1	OR5L2	11	55594869	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7278	55594869	79411647	6133	11241										
OR5L2	26338	hgsc.bcm.edu	37	chr11	55594980	55594980	+	Frame_Shift_Del	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaagccatctccttcctaGggtgcatggtgcaattctac					rs571342053|rs144106069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55594980delG	ENST00000378397.1	+	1	286	c.286delG	c.(286-288)gggfs	p.G96fs		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCCTTCCTAGGGTGCATGGT	0.473										HNSCC(27;0.073)			|||unknown(ALL_OTHER_Ns)	28	0.00559105	0.0189	0.0043	5008	,	,		23720	0.0		0.0	False		,,,				2504	0.0				p.L95fs		Pindel,Atlas-Indel	.											OR5L2,NS,carcinoma,+2,2	OR5L2	135	2	0			c.285delA						PASS	.			101,4161		1,99,2031	187	181	183			-0.1	0	11	dbSNP_134	184	4,8248		0,4,4122	no	frameshift	OR5L2	NM_001004739.1		1,103,6153	A1A1,A1R,RR		0.0485,2.3698,0.8391			55594980	105,12409	2200	4296	6496	SO:0001589	frameshift_variant	26338	exon1			.	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.286delG	11.37:g.55594980delG	ENSP00000367650:p.Gly96fs	Somatic	201	.	.		WXS	Illumina HiSeq	Phase_I	141	37	0.262	NM_001004739	Q6IF66|Q96RB2	Frame_Shift_Del	DEL	ENST00000378397.1	37	CCDS31511.1																																																																																			G|0.995;-|0.005	0.005	strong		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		-	55594980	G	-	55594980	7	5	22	1	0	1	0	1	0	0	0	0	11171	1000	35	0	288	0	OR5L2	11	55594980	Frame_Shift_Del	DEL	G	TCGA-G8-6324-01A-11D-2210-10	111	55594980	79411536	6134	11242										
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595012	55595012	+	Silent	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caattctacttgttttgcacAtgtggagtcactgaggtctt					rs35645945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595012A>T	ENST00000378397.1	+	1	318	c.318A>T	c.(316-318)acA>acT	p.T106T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTTTTGCACATGTGGAGTCA	0.483										HNSCC(27;0.073)																											p.T106T		Atlas-SNP	.											.	OR5L2	135	.	0			c.A318T						PASS	.						187	175	179					11																	55595012		2199	4295	6494	SO:0001819	synonymous_variant	26338	exon1			TTGCACATGTGGA	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.318A>T	11.37:g.55595012A>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	129	54	0.418605	NM_001004739	Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	CCDS31511.1																																																																																			A|0.934;T|0.066	0.066	strong		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55595012	A	T	55595012	2	4	22	1	0	0	0	0	0	0	0	1	11171	204	8	5		5	OR5L2	11	55595012	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	32	55595012	79411504	6135	11243	230	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595017	55595017	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacttgttttgcacatgtgGagtcactgaggtcttcctgc					rs117277709|rs34954823|rs386753700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595017G>T	ENST00000378397.1	+	1	323	c.323G>T	c.(322-324)gGa>gTa	p.G108V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCACATGTGGAGTCACTGAG	0.483										HNSCC(27;0.073)			N|||	342	0.0682907	0.0938	0.036	5008	,	,		22494	0.0704		0.0736	False		,,,				2504	0.0491				p.G108V		Atlas-SNP	.											OR5L2,NS,carcinoma,-1,2	OR5L2	135	2	1	Substitution - Missense(1)	stomach(1)	c.G323T						PASS	.						184	173	177					11																	55595017		2190	4290	6480	SO:0001583	missense	26338	exon1			CATGTGGAGTCAC	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.323G>T	11.37:g.55595017G>T	ENSP00000367650:p.Gly108Val	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	134	49	0.365672	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.868356	0.00063	.	.	ENSG00000205030	ENST00000378397	T	0.01359	4.98	5.18	-5.23	0.02798	GPCR, rhodopsin-like superfamily (1);	0.868328	0.09720	N	0.764589	T	0.00815	0.0027	N	0.13272	0.32	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.48019	-0.9071	10	0.02654	T	1	3.6392	9.8956	0.41316	0.0:0.2622:0.5569:0.1809	.	108	Q8NGL0	OR5L2_HUMAN	V	108	ENSP00000367650:G108V	ENSP00000367650:G108V	G	+	2	0	OR5L2	55351593	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.226000	0.00075	-0.884000	0.03976	-1.313000	0.01306	GGA	.	.	weak		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55595017	G	T	55595017	3	4	22	1	0	0	0	0	1	0	0	0	11171	1174	41	4	325	4	OR5L2	11	55595017	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5	55595017	79411499	6136	11244	230	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595018	55595018	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttgttttgcacatgtggAgtcactgaggtcttcctgct					rs61745634|rs34954823|rs386753700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595018A>G	ENST00000378397.1	+	1	324	c.324A>G	c.(322-324)ggA>ggG	p.G108G		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108G(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCACATGTGGAGTCACTGAGG	0.488										HNSCC(27;0.073)			N|||	342	0.0682907	0.0938	0.036	5008	,	,		22005	0.0704		0.0736	False		,,,				2504	0.0491				p.G108G		Atlas-SNP	.											OR5L2,NS,carcinoma,0,2	OR5L2	135	2	1	Substitution - coding silent(1)	stomach(1)	c.A324G						PASS	.						183	172	176					11																	55595018		2197	4293	6490	SO:0001819	synonymous_variant	26338	exon1			ATGTGGAGTCACT	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.324A>G	11.37:g.55595018A>G		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	135	49	0.362963	NM_001004739	Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	CCDS31511.1																																																																																			A|0.993;G|0.007	0.007	strong		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		G	55595018	A	G	55595018	2	3	22	1	0	0	0	0	0	0	0	1	11171	291	11	3		3	OR5L2	11	55595018	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	55595018	79411498	6137	11245	230	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595114	55595114	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaccatgtctcagaagctGcgtgtggagctgacctcttg					rs34929168|rs386753701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595114G>T	ENST00000378397.1	+	1	420	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCAGAAGCTGCGTGTGGAGC	0.522										HNSCC(27;0.073)			N|||	449	0.0896565	0.1309	0.0403	5008	,	,		21339	0.0853		0.0924	False		,,,				2504	0.0706				p.L140L		Atlas-SNP	.											.	OR5L2	135	.	0			c.G420T						PASS	.						211	182	192					11																	55595114		2200	4296	6496	SO:0001819	synonymous_variant	26338	exon1			GAAGCTGCGTGTG	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.420G>T	11.37:g.55595114G>T		Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	280	126	0.45	NM_001004739	Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	CCDS31511.1																																																																																			G|0.913;T|0.087	0.087	strong		0.522	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55595114	G	T	55595114	2	4	22	1	0	0	0	0	0	0	0	1	11171	1306	46	4		4	OR5L2	11	55595114	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96	55595114	79411402	6138	11246	231	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595115	55595115	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccatgtctcagaagctgCgtgtggagctgacctcttgc					rs35214936|rs71490506|rs386753701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595115C>T	ENST00000378397.1	+	1	421	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R141C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGAAGCTGCGTGTGGAGCT	0.517										HNSCC(27;0.073)			N|||	449	0.0896565	0.1309	0.0403	5008	,	,		21374	0.0853		0.0924	False		,,,				2504	0.0706				p.R141C		Atlas-SNP	.											OR5L2,NS,carcinoma,0,1	OR5L2	135	1	1	Substitution - Missense(1)	stomach(1)	c.C421T						PASS	.						211	182	192					11																	55595115		2200	4296	6496	SO:0001583	missense	26338	exon1			AAGCTGCGTGTGG	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.421C>T	11.37:g.55595115C>T	ENSP00000367650:p.Arg141Cys	Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	282	127	0.450355	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	146	0.06684981684981685	47	0.09552845528455285	17	0.04696132596685083	36	0.06293706293706294	46	0.06068601583113457	.	0.003	-2.453880	0.00175	.	.	ENSG00000205030	ENST00000378397	T	0.34275	1.37	5.18	0.994	0.19832	GPCR, rhodopsin-like superfamily (1);	0.359940	0.24334	N	0.039423	T	0.00178	0.0005	N	0.00084	-2.21	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	9	0.02654	T	1	-1.0929	8.8173	0.35004	0.0:0.2583:0.0:0.7417	.	141	Q8NGL0	OR5L2_HUMAN	C	141	ENSP00000367650:R141C	ENSP00000367650:R141C	R	+	1	0	OR5L2	55351691	0.010000	0.17322	0.064000	0.19789	0.051000	0.14879	0.390000	0.20768	-0.004000	0.14419	-0.389000	0.06534	CGT	C|0.913;G|0.000;T|0.087	0.087	strong		0.517	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55595115	C	T	55595115	3	4	22	1	0	0	0	0	1	0	0	0	11171	768	27	1	423	1	OR5L2	11	55595115	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	55595115	79411401	6139	11247	231	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595116	55595116	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccatgtctcagaagctgcGtgtggagctgacctcttgct					rs75822385|rs35214936|rs386753701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595116G>C	ENST00000378397.1	+	1	422	c.422G>C	c.(421-423)cGt>cCt	p.R141P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAGAAGCTGCGTGTGGAGCTG	0.517										HNSCC(27;0.073)			N|||	446	0.0890575	0.1293	0.0403	5008	,	,		21243	0.0843		0.0924	False		,,,				2504	0.0706				p.R141P		Atlas-SNP	.											OR5L2,NS,carcinoma,+1,1	OR5L2	135	1	0			c.G422C						PASS	.						211	182	192					11																	55595116		2200	4296	6496	SO:0001583	missense	26338	exon1			AGCTGCGTGTGGA	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.422G>C	11.37:g.55595116G>C	ENSP00000367650:p.Arg141Pro	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	286	128	0.447552	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653845	0.29425	.	.	ENSG00000205030	ENST00000378397	T	0.37058	1.22	5.18	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.359940	0.24334	N	0.039423	T	0.48003	0.1476	M	0.63843	1.955	0.09310	N	1	P	0.38395	0.629	P	0.51055	0.657	T	0.43442	-0.9391	10	0.87932	D	0	-1.0929	9.6016	0.39607	0.1634:0.0:0.8366:0.0	.	141	Q8NGL0	OR5L2_HUMAN	P	141	ENSP00000367650:R141P	ENSP00000367650:R141P	R	+	2	0	OR5L2	55351692	0.036000	0.19791	0.083000	0.20561	0.052000	0.14988	2.184000	0.42575	1.346000	0.45694	0.626000	0.83405	CGT	A|0.002;C|0.069;G|0.929	0.069	strong		0.517	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		C	55595116	G	C	55595116	3	2	22	1	0	0	0	0	1	0	0	0	11171	1145	40	4	424	4	OR5L2	11	55595116	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	55595116	79411400	6140	11248	231	3								
OR5L2	26338	hgsc.bcm.edu	37	chr11	55595401	55595401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgcagagagcaggcacaAagctttctccacctgtgcct	9	14	2	1	rs148148644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55595401A>G	ENST00000378397.1	+	1	707	c.707A>G	c.(706-708)aAa>aGa	p.K236R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGCAGGCACAAAGCTTTCTCC	0.488										HNSCC(27;0.073)			N|||	7	0.00139776	0.0053	0.0	5008	,	,		17988	0.0		0.0	False		,,,				2504	0.0				p.K236R		Atlas-SNP	.											.	OR5L2	135	.	0			c.A707G						PASS	.	A	ARG/LYS	43,4357		0,43,2157	177	150	159		707	5.2	1	11	dbSNP_134	159	0,8592		0,0,4296	yes	missense	OR5L2	NM_001004739.1	26	0,43,6453	GG,GA,AA		0.0,0.9773,0.331	benign	236/312	55595401	43,12949	2200	4296	6496	SO:0001583	missense	26338	exon1			GGCACAAAGCTTT	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.707A>G	11.37:g.55595401A>G	ENSP00000367650:p.Lys236Arg	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	159	73	0.459119	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	.	13.65	2.300050	0.40694	0.009773	0.0	ENSG00000205030	ENST00000378397	T	0.00360	7.86	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.110656	0.40640	N	0.001045	T	0.00300	0.0009	M	0.62723	1.935	0.39567	D	0.969221	B	0.31581	0.329	B	0.37304	0.246	T	0.77520	-0.2557	10	0.66056	D	0.02	-6.4806	14.3209	0.66487	1.0:0.0:0.0:0.0	.	236	Q8NGL0	OR5L2_HUMAN	R	236	ENSP00000367650:K236R	ENSP00000367650:K236R	K	+	2	0	OR5L2	55351977	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	2.879000	0.48522	2.115000	0.64714	0.514000	0.50259	AAA	A|0.997;G|0.003	0.003	strong		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		G	55595401	A	G	55595401	3	3	22	1	0	0	0	0	1	0	0	0	11171	14	1	2	709	2	OR5L2	11	55595401	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	285	55595401	79411115	6141	11249										
OR5W2	390148	hgsc.bcm.edu	37	chr11	55681130	55681130	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatttttactatttccttaaAataaaattttatttttcagt	1	4	1	0	rs34573569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55681130A>T	ENST00000344514.1	-	1	928	c.929T>A	c.(928-930)tTt>tAt	p.F310Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	310			F -> Y (in dbSNP:rs34573569).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTTCCttaaaataaaatttt	0.299													A|||	454	0.090655	0.1278	0.0403	5008	,	,		13909	0.0903		0.0944	False		,,,				2504	0.0726				p.F310Y	Melanoma(48;171 1190 15239 43886 49348)	Atlas-SNP	.											.	OR5W2	112	.	0			c.T929A						PASS	.	A	TYR/PHE	402,3740		23,356,1692	12	13	13		929	-0.4	0	11	dbSNP_126	13	624,7858		22,580,3639	yes	missense	OR5W2	NM_001001960.1	22	45,936,5331	TT,TA,AA		7.3568,9.7055,8.1274	probably-damaging	310/311	55681130	1026,11598	2071	4241	6312	SO:0001583	missense	390148	exon1			CCTTAAAATAAAA	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.929T>A	11.37:g.55681130A>T	ENSP00000342448:p.Phe310Tyr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_001001960		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	205	0.09386446886446886	74	0.15040650406504066	18	0.049723756906077346	46	0.08041958041958042	67	0.08839050131926121	.	13.26	2.183817	0.38609	0.097055	0.073568	ENSG00000187612	ENST00000344514	T	0.02280	4.36	4.0	-0.387	0.12463	.	0.579014	0.13070	N	0.416199	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.20164	0.042	B	0.21917	0.037	T	0.45716	-0.9242	9	0.59425	D	0.04	.	4.1446	0.10210	0.6166:0.0:0.2232:0.1602	rs34573569	310	Q8NH69	OR5W2_HUMAN	Y	310	ENSP00000342448:F310Y	ENSP00000342448:F310Y	F	-	2	0	OR5W2	55437706	.	.	0.027000	0.17364	0.423000	0.31445	.	.	0.003000	0.14656	0.448000	0.29417	TTT	A|0.877;T|0.123	0.123	strong		0.299	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681130	A	T	55681130	3	4	22	1	0	0	0	0	1	0	0	0	11185	14	1	5	5	5	OR5W2	11	55681130	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85729	55681130	79325386	6142	11250										
OR5I1	10798	hgsc.bcm.edu	37	chr11	55703523	55703523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcgatcataggccatggcGgccaggatgaaggattctgt	14	8	2	1	rs11231594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55703523G>A	ENST00000301532.3	-	1	353	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	118					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGCCATGGCGGCCAGGATGA	0.433													G|||	121	0.0241613	0.0862	0.0101	5008	,	,		19053	0.0		0.0	False		,,,				2504	0.0				p.A118A		Atlas-SNP	.											.	OR5I1	110	.	0			c.C354T						PASS	.	G		304,4098	162.9+/-194.8	16,272,1913	52	55	54		354	-2.7	0.3	11	dbSNP_120	54	6,8578	5.7+/-21.5	0,6,4286	no	coding-synonymous	OR5I1	NM_006637.1		16,278,6199	AA,AG,GG		0.0699,6.906,2.3872		118/315	55703523	310,12676	2201	4292	6493	SO:0001819	synonymous_variant	10798	exon1			CATGGCGGCCAGG	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.354C>T	11.37:g.55703523G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																			G|0.974;A|0.026	0.026	strong		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703523	G	A	55703523	2	1	22	1	0	0	0	0	0	0	0	1	11164	1103	39	1		1	OR5I1	11	55703523	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22393	55703523	79302993	6143	11251										
OR5I1	10798	hgsc.bcm.edu	37	chr11	55703728	55703728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaggatcaatcctgatcAacagcatcaatccaatgttc	8	10	3	2	rs4367963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55703728A>G	ENST00000301532.3	-	1	148	c.149T>C	c.(148-150)tTg>tCg	p.L50S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	50			L -> S (in dbSNP:rs4367963).		signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATCCTGATCAACAGCATCAA	0.398													A|||	457	0.091254	0.1286	0.0418	5008	,	,		16386	0.0903		0.0954	False		,,,				2504	0.0726				p.L50S		Atlas-SNP	.											OR5I1,caecum,carcinoma,+1,2	OR5I1	110	2	1	Substitution - Missense(1)	stomach(1)	c.T149C						PASS	.	A	SER/LEU	502,3900	229.1+/-243.8	32,438,1731	70	69	69		149	5.1	0.2	11	dbSNP_111	69	720,7872	174.2+/-224.5	31,658,3607	yes	missense	OR5I1	NM_006637.1	145	63,1096,5338	GG,GA,AA		8.3799,11.4039,9.4043	probably-damaging	50/315	55703728	1222,11772	2201	4296	6497	SO:0001583	missense	10798	exon1			CTGATCAACAGCA	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.149T>C	11.37:g.55703728A>G	ENSP00000301532:p.Leu50Ser	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	138	69	0.5	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	202	0.0924908424908425	73	0.1483739837398374	18	0.049723756906077346	44	0.07692307692307693	67	0.08839050131926121	A	18.62	3.663270	0.67700	0.114039	0.083799	ENSG00000167825	ENST00000301532	T	0.02837	4.14	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	N	0.002444	T	0.00073	0.0002	M	0.65498	2.005	0.52501	P	4.4000000000044004E-5	D	0.76494	0.999	D	0.80764	0.994	T	0.08186	-1.0734	9	0.87932	D	0	.	13.0502	0.58950	1.0:0.0:0.0:0.0	rs4367963;rs52814279;rs57530320;rs4367963	50	Q13606	OR5I1_HUMAN	S	50	ENSP00000301532:L50S	ENSP00000301532:L50S	L	-	2	0	OR5I1	55460304	0.186000	0.23225	0.247000	0.24249	0.903000	0.53119	4.378000	0.59568	2.020000	0.59435	0.519000	0.50382	TTG	A|0.901;G|0.099	0.099	strong		0.398	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		G	55703728	A	G	55703728	3	3	22	1	0	0	0	0	1	0	0	0	11164	131	5	2	798	2	OR5I1	11	55703728	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	205	55703728	79302788	6144	11252										
OR10AG1	282770	hgsc.bcm.edu	37	chr11	55735091	55735091	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatgatatctttgttcctCagggtatatataataggatt	7	6	2	1	rs12292026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55735091C>T	ENST00000312345.2	-	1	899	c.849G>A	c.(847-849)ctG>ctA	p.L283L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTTTGTTCCTCAGGGTATATA	0.328													C|||	121	0.0241613	0.0862	0.0101	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0				p.L283L		Atlas-SNP	.											.	OR10AG1	100	.	0			c.G849A						PASS	.	C		306,4096	161.4+/-193.6	17,272,1912	55	61	59		849	3.2	1	11	dbSNP_120	59	6,8586	5.7+/-21.5	0,6,4290	no	coding-synonymous	OR10AG1	NM_001005491.1		17,278,6202	TT,TC,CC		0.0698,6.9514,2.4011		283/302	55735091	312,12682	2201	4296	6497	SO:0001819	synonymous_variant	282770	exon1			GTTCCTCAGGGTA	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.849G>A	11.37:g.55735091C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	106	55	0.518868	NM_001005491	B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	CCDS31514.1																																																																																			C|0.974;T|0.026	0.026	strong		0.328	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735091	C	T	55735091	2	4	22	1	0	0	0	0	0	0	0	1	10897	813	29	2		2	OR10AG1	11	55735091	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31363	55735091	79271425	6145	11253										
OR10AG1	282770	hgsc.bcm.edu	37	chr11	55735343	55735343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatcaacagaaatggcacCgtgataaacaccaccgctac	6	13	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55735343C>T	ENST00000312345.2	-	1	647	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAATGGCACCGTGATAAACA	0.408																																					p.T199T		Atlas-SNP	.											OR10AG1,NS,carcinoma,0,1	OR10AG1	100	1	1	Substitution - coding silent(1)	lung(1)	c.G597A						scavenged	.						80	80	80					11																	55735343		2201	4296	6497	SO:0001819	synonymous_variant	282770	exon1			TGGCACCGTGATA	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.597G>A	11.37:g.55735343C>T		Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	226	3	0.0132743	NM_001005491	B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	CCDS31514.1																																																																																			.	.	none		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735343	C	T	55735343	2	4	22	1	0	0	0	0	0	0	0	1	10897	639	23	1		1	OR10AG1	11	55735343	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	252	55735343	79271173	6146	11254										
OR5F1	338674	hgsc.bcm.edu	37	chr11	55761528	55761528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgctttctttcaggattgTgtcagaacaagagagcttga	10	6	3	3	rs35607186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55761528T>C	ENST00000278409.1	-	1	573	c.574A>G	c.(574-576)Aca>Gca	p.T192A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	192			T -> A (in dbSNP:rs35607186).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCAGGATTGTGTCAGAACAA	0.453													T|||	457	0.091254	0.1293	0.0403	5008	,	,		19955	0.0913		0.0944	False		,,,				2504	0.0726				p.T192A		Atlas-SNP	.											OR5F1,NS,carcinoma,+1,1	OR5F1	116	1	0			c.A574G						scavenged	.	T	ALA/THR	514,3888	235.5+/-248.0	35,444,1722	90	84	86		574	3	0.6	11	dbSNP_126	86	725,7867	176.3+/-226.2	31,663,3602	yes	missense	OR5F1	NM_003697.1	58	66,1107,5324	CC,CT,TT		8.4381,11.6765,9.5352	benign	192/315	55761528	1239,11755	2201	4296	6497	SO:0001583	missense	338674	exon1			GGATTGTGTCAGA	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.574A>G	11.37:g.55761528T>C	ENSP00000278409:p.Thr192Ala	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	141	69	0.489362	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	203	0.09294871794871795	74	0.15040650406504066	18	0.049723756906077346	45	0.07867132867132867	66	0.0870712401055409	T	14.83	2.653859	0.47362	0.116765	0.084381	ENSG00000149133	ENST00000278409	T	0.00235	8.48	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	M	0.81341	2.54	0.33552	P	0.40374	P	0.34997	0.479	B	0.40066	0.318	T	0.05616	-1.0874	8	0.66056	D	0.02	.	6.9603	0.24593	0.2046:0.0:0.0:0.7954	rs35607186	192	O95221	OR5F1_HUMAN	A	192	ENSP00000278409:T192A	ENSP00000278409:T192A	T	-	1	0	OR5F1	55518104	0.001000	0.12720	0.605000	0.28930	0.483000	0.33249	0.499000	0.22546	1.167000	0.42706	0.247000	0.18012	ACA	T|0.905;C|0.095	0.095	strong		0.453	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		C	55761528	T	C	55761528	3	2	22	1	0	0	0	0	1	0	0	0	11158	1696	59	2	373	2	OR5F1	11	55761528	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26185	55761528	79244988	6147	11255										
OR8H2	390151	hgsc.bcm.edu	37	chr11	55873401	55873401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatttatagtcttagaaacAaagaggtgaaaaatgctgtc	8	5	2	3	rs115405120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55873401A>G	ENST00000313503.1	+	1	883	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCTTAGAAACAAAGAGGTGAA	0.368										HNSCC(53;0.14)			a|||	35	0.00698882	0.0219	0.0086	5008	,	,		17201	0.0		0.0	False		,,,				2504	0.0				p.K295E		Atlas-SNP	.											.	OR8H2	117	.	0			c.A883G						PASS	.	A	GLU/LYS	102,4298	78.8+/-117.2	1,100,2099	81	89	87		883	3.3	1	11	dbSNP_132	87	2,8586	3.0+/-9.4	0,2,4292	yes	missense	OR8H2	NM_001005200.1	56	1,102,6391	GG,GA,AA		0.0233,2.3182,0.8007	possibly-damaging	295/313	55873401	104,12884	2200	4294	6494	SO:0001583	missense	390151	exon1			AGAAACAAAGAGG	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.883A>G	11.37:g.55873401A>G	ENSP00000323982:p.Lys295Glu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_001005200	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	19	0.0086996336996337	16	0.032520325203252036	3	0.008287292817679558	0	0.0	0	0.0	a	8.777	0.927390	0.18056	0.023182	2.33E-4	ENSG00000181767	ENST00000313503	T	0.44083	0.93	3.35	3.35	0.38373	.	0.000000	0.56097	D	0.000025	T	0.18341	0.0440	M	0.76170	2.325	0.25971	N	0.982491	B	0.28378	0.209	B	0.27380	0.079	T	0.35301	-0.9794	10	0.87932	D	0	.	8.3251	0.32151	0.9009:0.0:0.0991:0.0	.	295	Q8N162	OR8H2_HUMAN	E	295	ENSP00000323982:K295E	ENSP00000323982:K295E	K	+	1	0	OR8H2	55629977	0.009000	0.17119	0.992000	0.48379	0.067000	0.16453	2.182000	0.42556	1.497000	0.48584	0.362000	0.22060	AAA	A|0.991;G|0.009	0.009	strong		0.368	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		G	55873401	A	G	55873401	3	3	22	1	0	0	0	0	1	0	0	0	11238	131	5	2	885	2	OR8H2	11	55873401	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111873	55873401	79133115	6148	11256										
OR8H3	390152	hgsc.bcm.edu	37	chr11	55889918	55889918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgtcagactctgaagagGtccagatggctctgtttatg	12	8	3	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55889918G>A	ENST00000313472.3	+	1	70	c.70G>A	c.(70-72)Gtc>Atc	p.V24I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCTGAAGAGGTCCAGATGGC	0.453																																					p.V24I		Atlas-SNP	.											.	OR8H3	92	.	0			c.G70A						PASS	.						204	194	198					11																	55889918		2201	4296	6497	SO:0001583	missense	390152	exon1			GAAGAGGTCCAGA	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.70G>A	11.37:g.55889918G>A	ENSP00000323928:p.Val24Ile	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	231	18	0.0779221	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551434	0.03996	.	.	ENSG00000181761	ENST00000313472	T	0.01359	4.98	3.43	-6.36	0.01969	.	1.100610	0.06932	N	0.811320	T	0.00552	0.0018	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49504	-0.8933	10	0.54805	T	0.06	.	2.0752	0.03623	0.3689:0.211:0.3126:0.1075	.	24	Q8N146	OR8H3_HUMAN	I	24	ENSP00000323928:V24I	ENSP00000323928:V24I	V	+	1	0	OR8H3	55646494	0.000000	0.05858	0.104000	0.21259	0.032000	0.12392	-5.175000	0.00144	-0.849000	0.04158	-1.252000	0.01501	GTC	.	.	none		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55889918	G	A	55889918	3	1	22	1	0	0	0	0	1	0	0	0	11239	1261	44	2	72	2	OR8H3	11	55889918	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16517	55889918	79116598	6149	11257										
OR8H3	390152	hgsc.bcm.edu	37	chr11	55889987	55889987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggggaatgtggggatgCtattgataatccgcctggac	15	7	0	1	rs7107077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55889987C>A	ENST00000313472.3	+	1	139	c.139C>A	c.(139-141)Cta>Ata	p.L47I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	47			L -> I (in dbSNP:rs7107077).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTGGGGATGCTATTGATAAT	0.453													A|||	316	0.063099	0.1906	0.0447	5008	,	,		20197	0.001		0.0308	False		,,,				2504	0.001				p.L47I		Atlas-SNP	.											OR8H3,caecum,carcinoma,0,1	OR8H3	92	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C139A						PASS	.	A	ILE/LEU	627,3775		68,491,1642	302	304	303		139	3.4	0.4	11	dbSNP_116	303	337,8255		9,319,3968	no	missense	OR8H3	NM_001005201.1	5	77,810,5610	AA,AC,CC		3.9223,14.2435,7.4188	benign	47/313	55889987	964,12030	2201	4296	6497	SO:0001583	missense	390152	exon1			GGGATGCTATTGA	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.139C>A	11.37:g.55889987C>A	ENSP00000323928:p.Leu47Ile	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	349	98	0.280802	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	107	0.04899267399267399	70	0.14227642276422764	18	0.049723756906077346	1	0.0017482517482517483	18	0.023746701846965697	A	0	-2.823779	0.00071	0.142435	0.039223	ENSG00000181761	ENST00000313472	T	0.00378	7.66	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.204125	0.35179	N	0.003382	T	0.00012	0.0000	N	0.00405	-1.535	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	9	0.02654	T	1	.	5.5115	0.16884	0.5681:0.3353:0.0966:0.0	rs7107077;rs7112617	47	Q8N146	OR8H3_HUMAN	I	47	ENSP00000323928:L47I	ENSP00000323928:L47I	L	+	1	2	OR8H3	55646563	0.033000	0.19621	0.401000	0.26359	0.041000	0.13682	0.065000	0.14466	0.334000	0.23590	-1.536000	0.00914	CTA	C|0.950;A|0.050	0.050	strong		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55889987	C	A	55889987	3	1	22	1	0	0	0	0	1	0	0	0	11239	796	28	4	141	4	OR8H3	11	55889987	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69	55889987	79116529	6150	11258										
OR8H3	390152	hgsc.bcm.edu	37	chr11	55890066	55890066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtcatttattgacctcaGttactcaactgtcgtcacac	5	13	4	1	rs140843028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55890066G>A	ENST00000313472.3	+	1	218	c.218G>A	c.(217-219)aGt>aAt	p.S73N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTGACCTCAGTTACTCAACT	0.448													G|||	73	0.0145767	0.0499	0.0101	5008	,	,		20989	0.0		0.0	False		,,,				2504	0.0				p.S73N		Atlas-SNP	.											.	OR8H3	92	.	0			c.G218A						PASS	.	G	ASN/SER	175,4227	115.0+/-153.0	4,167,2030	255	252	253		218	-0.2	0.9	11	dbSNP_134	253	4,8582	4.3+/-15.6	0,4,4289	no	missense	OR8H3	NM_001005201.1	46	4,171,6319	AA,AG,GG		0.0466,3.9755,1.3782	possibly-damaging	73/313	55890066	179,12809	2201	4293	6494	SO:0001583	missense	390152	exon1			ACCTCAGTTACTC	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.218G>A	11.37:g.55890066G>A	ENSP00000323928:p.Ser73Asn	Somatic	368	0	0		WXS	Illumina HiSeq	Phase_I	390	160	0.410256	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	26	0.011904761904761904	22	0.044715447154471545	4	0.011049723756906077	0	0.0	0	0.0	G	11.76	1.735059	0.30774	0.039755	4.66E-4	ENSG00000181761	ENST00000313472	T	0.01359	4.98	3.44	-0.164	0.13359	GPCR, rhodopsin-like superfamily (1);	0.421176	0.23038	N	0.052645	T	0.00875	0.0029	M	0.86864	2.845	0.09310	N	1	D	0.56287	0.975	P	0.52267	0.694	T	0.26849	-1.0091	10	0.87932	D	0	.	3.7935	0.08730	0.0939:0.291:0.4667:0.1484	.	73	Q8N146	OR8H3_HUMAN	N	73	ENSP00000323928:S73N	ENSP00000323928:S73N	S	+	2	0	OR8H3	55646642	0.006000	0.16342	0.902000	0.35471	0.267000	0.26476	1.600000	0.36762	0.075000	0.16796	0.173000	0.16961	AGT	G|0.986;A|0.014	0.014	weak		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890066	G	A	55890066	3	1	22	1	0	0	0	0	1	0	0	0	11239	1029	36	2	220	2	OR8H3	11	55890066	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79	55890066	79116450	6151	11259										
OR8J3	81168	hgsc.bcm.edu	37	chr11	55904422	55904422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtttggggctgcaaatacAtaaatagcattgtcccatag	10	7	0	0	rs114758947	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55904422A>G	ENST00000301529.1	-	1	772	c.773T>C	c.(772-774)aTg>aCg	p.M258T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTGCAAATACATAAATAGCAT	0.428													A|||	88	0.0175719	0.0628	0.0058	5008	,	,		18131	0.0		0.001	False		,,,				2504	0.0				p.M258T		Atlas-SNP	.											.	OR8J3	112	.	0			c.T773C						PASS	.	A	THR/MET	235,4167	139.2+/-174.8	7,221,1973	138	133	135		773	2.1	0.5	11	dbSNP_132	135	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR8J3	NM_001004064.1	81	7,223,6267	GG,GA,AA		0.0233,5.3385,1.8239	probably-damaging	258/316	55904422	237,12757	2201	4296	6497	SO:0001583	missense	81168	exon1			AAATACATAAATA		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.773T>C	11.37:g.55904422A>G	ENSP00000301529:p.Met258Thr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	236	127	0.538136	NM_001004064	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	41	0.018772893772893772	38	0.07723577235772358	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	7.537	0.659897	0.14645	0.053385	2.33E-4	ENSG00000167822	ENST00000301529	T	0.00164	8.64	3.27	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.136411	0.52532	D	0.000070	T	0.00039	0.0001	L	0.53561	1.675	0.09310	N	1	D	0.53619	0.961	P	0.62298	0.9	T	0.47169	-0.9138	10	0.72032	D	0.01	.	5.506	0.16854	0.6758:0.0:0.3242:0.0	.	258	Q8NGG0	OR8J3_HUMAN	T	258	ENSP00000301529:M258T	ENSP00000301529:M258T	M	-	2	0	OR8J3	55660998	0.000000	0.05858	0.453000	0.27007	0.065000	0.16274	-0.305000	0.08188	1.272000	0.44329	0.247000	0.18012	ATG	A|0.983;G|0.017	0.017	strong		0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		G	55904422	A	G	55904422	3	3	22	1	0	0	0	0	1	0	0	0	11242	217	8	2	176	2	OR8J3	11	55904422	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14356	55904422	79102094	6152	11260										
OR8K5	219453	hgsc.bcm.edu	37	chr11	55927591	55927591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaattaccaagatcaacaAaagccaaatgtctgatagaa	6	7	2	4	rs2512938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55927591A>G	ENST00000313447.1	-	1	202	c.203T>C	c.(202-204)tTt>tCt	p.F68S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	68			F -> S (in dbSNP:rs2512938).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAGATCAACAAAAGCCAAATG	0.398													.|||	111	0.0221645	0.0779	0.0115	5008	,	,		21695	0.0		0.0	False		,,,				2504	0.0				p.F68S		Atlas-SNP	.											.	OR8K5	82	.	0			c.T203C						PASS	.	A	SER/PHE	280,4122	155.9+/-189.0	9,262,1930	110	109	109		203	2.7	0.9	11	dbSNP_100	109	6,8586	4.3+/-15.6	0,6,4290	yes	missense	OR8K5	NM_001004058.2	155	9,268,6220	GG,GA,AA		0.0698,6.3607,2.201	possibly-damaging	68/308	55927591	286,12708	2201	4296	6497	SO:0001583	missense	219453	exon1			TCAACAAAAGCCA	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.203T>C	11.37:g.55927591A>G	ENSP00000323853:p.Phe68Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	138	68	0.492754	NM_001004058	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	44	0.020146520146520148	39	0.07926829268292683	5	0.013812154696132596	0	0.0	0	0.0	A	11.51	1.659357	0.29515	0.063607	6.98E-4	ENSG00000181752	ENST00000313447	T	0.01005	5.45	3.87	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.79475	2.455	0.23834	N	0.996718	D	0.56746	0.977	P	0.47744	0.556	T	0.48559	-0.9025	9	0.72032	D	0.01	.	8.9967	0.36057	0.8337:0.0:0.0:0.1663	rs2512938;rs56484064;rs2512938	68	Q8NH50	OR8K5_HUMAN	S	68	ENSP00000323853:F68S	ENSP00000323853:F68S	F	-	2	0	OR8K5	55684167	0.082000	0.21442	0.937000	0.37676	0.050000	0.14768	3.809000	0.55606	0.621000	0.30232	-0.555000	0.04198	TTT	A|0.974;G|0.026	0.026	strong		0.398	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		G	55927591	A	G	55927591	3	3	22	1	0	0	0	0	1	0	0	0	11245	14	1	2	723	2	OR8K5	11	55927591	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23169	55927591	79078925	6153	11261										
OR5J2	282775	hgsc.bcm.edu	37	chr11	55944501	55944501	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctttacactgtagccatGtctgatagaaagtgtgtgga	11	6	1	2	rs12279899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55944501G>C	ENST00000312298.1	+	1	408	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	136			M -> I (in dbSNP:rs12279899).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGTAGCCATGTCTGATAGAA	0.453													.|||	111	0.0221645	0.0779	0.0115	5008	,	,		23867	0.0		0.0	False		,,,				2504	0.0				p.M136I		Atlas-SNP	.											.	OR5J2	98	.	0			c.G408C						PASS	.	G	ILE/MET	280,4122	156.6+/-189.7	9,262,1930	164	150	155		408	4.7	0.4	11	dbSNP_120	155	6,8586	4.3+/-15.6	0,6,4290	yes	missense	OR5J2	NM_001005492.1	10	9,268,6220	CC,CG,GG		0.0698,6.3607,2.201	probably-damaging	136/313	55944501	286,12708	2201	4296	6497	SO:0001583	missense	282775	exon1			AGCCATGTCTGAT	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.408G>C	11.37:g.55944501G>C	ENSP00000310788:p.Met136Ile	Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	426	193	0.453052	NM_001005492	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	44	0.020146520146520148	39	0.07926829268292683	5	0.013812154696132596	0	0.0	0	0.0	G	16.43	3.120975	0.56613	0.063607	6.98E-4	ENSG00000174957	ENST00000312298	T	0.00551	6.65	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00073	0.0002	M	0.70595	2.14	0.51482	D	0.999923	P	0.41313	0.745	B	0.36719	0.231	T	0.75425	-0.3322	10	0.66056	D	0.02	.	17.6944	0.88277	0.0:0.0:1.0:0.0	rs12279899;rs52802580;rs12279899	136	Q8NH18	OR5J2_HUMAN	I	136	ENSP00000310788:M136I	ENSP00000310788:M136I	M	+	3	0	OR5J2	55701077	1.000000	0.71417	0.364000	0.25888	0.028000	0.11728	6.151000	0.71806	2.350000	0.79820	0.584000	0.79450	ATG	G|0.979;C|0.021	0.021	strong		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		C	55944501	G	C	55944501	3	2	22	1	0	0	0	0	1	0	0	0	11165	1377	48	4	410	4	OR5J2	11	55944501	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16910	55944501	79062015	6154	11262										
OR5T2	219464	hgsc.bcm.edu	37	chr11	55999879	55999879	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacatcttcagaatggccaaCagaatcaaaccataggagat	7	9	3	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:55999879C>A	ENST00000313264.4	-	1	858	c.783G>T	c.(781-783)ctG>ctT	p.L261L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATGGCCAACAGAATCAAAC	0.438																																					p.L261L		Atlas-SNP	.											OR5T2,NS,carcinoma,0,1	OR5T2	107	1	0			c.G783T						scavenged	.						129	120	123					11																	55999879		2201	4296	6497	SO:0001819	synonymous_variant	219464	exon1			GGCCAACAGAATC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.783G>T	11.37:g.55999879C>A		Somatic	197	1	0.00507614		WXS	Illumina HiSeq	Phase_I	219	94	0.429224	NM_001004746	B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																			.	.	none		0.438	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		A	55999879	C	A	55999879	2	1	22	1	0	0	0	0	0	0	0	1	11182	465	17	4		4	OR5T2	11	55999879	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55378	55999879	79006637	6155	11263										
OR8K1	390157	hgsc.bcm.edu	37	chr11	56113703	56113703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggactccaagctacacacCcccatgtactttttccttag	5	14	0	0	rs145394503	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56113703C>T	ENST00000279783.2	+	1	283	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AGCTACACACCCCCATGTACT	0.433										HNSCC(65;0.19)			C|||	35	0.00698882	0.0242	0.0029	5008	,	,		19161	0.0		0.001	False		,,,				2504	0.0				p.T63T		Atlas-SNP	.											.	OR8K1	93	.	0			c.C189T						PASS	.	C		108,4294	83.9+/-122.4	2,104,2095	165	149	154		189	-10	0	11	dbSNP_134	154	3,8589	2.2+/-6.3	0,3,4293	no	coding-synonymous	OR8K1	NM_001002907.1		2,107,6388	TT,TC,CC		0.0349,2.4534,0.8542		63/320	56113703	111,12883	2201	4296	6497	SO:0001819	synonymous_variant	390157	exon1			ACACACCCCCATG	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.189C>T	11.37:g.56113703C>T		Somatic	216	1	0.00462963		WXS	Illumina HiSeq	Phase_I	189	94	0.497355	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	CCDS31528.1																																																																																			C|0.993;T|0.007	0.007	strong		0.433	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		T	56113703	C	T	56113703	2	4	22	1	0	0	0	0	0	0	0	1	11243	610	22	2		2	OR8K1	11	56113703	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	113824	56113703	78892813	6156	11264										
OR8K1	390157	hgsc.bcm.edu	37	chr11	56113923	56113923	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccatctgtaaacctcttCtgtacgtgatcatcatggca	7	11	5	1	rs61745885	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56113923C>T	ENST00000279783.2	+	1	503	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L137M(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TAAACCTCTTCTGTACGTGAT	0.403										HNSCC(65;0.19)			C|||	35	0.00698882	0.0242	0.0029	5008	,	,		21543	0.0		0.001	False		,,,				2504	0.0				p.L137L		Atlas-SNP	.											OR8K1,shoulder,malignant_melanoma,0,1	OR8K1	93	1	1	Substitution - Missense(1)	skin(1)	c.C409T						PASS	.	C		108,4294	83.4+/-121.9	2,104,2095	213	211	211		409	3.1	0.9	11	dbSNP_129	211	3,8589	2.2+/-6.3	0,3,4293	no	coding-synonymous	OR8K1	NM_001002907.1		2,107,6388	TT,TC,CC		0.0349,2.4534,0.8542		137/320	56113923	111,12883	2201	4296	6497	SO:0001819	synonymous_variant	390157	exon1			CCTCTTCTGTACG	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.409C>T	11.37:g.56113923C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	148	71	0.47973	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	CCDS31528.1																																																																																			C|0.993;T|0.007	0.007	strong		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		T	56113923	C	T	56113923	2	4	22	1	0	0	0	0	0	0	0	1	11243	912	32	2		2	OR8K1	11	56113923	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	220	56113923	78892593	6157	11265										
OR8J1	219477	hgsc.bcm.edu	37	chr11	56128226	56128226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtattctctgtgtcttaTtgctcttctaatataatcaa	4	7	5	0	rs11823483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56128226T>C	ENST00000303039.3	+	1	536	c.504T>C	c.(502-504)taT>taC	p.Y168Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	168						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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTGTGTCTTATTGCTCTTCTA	0.388													T|||	240	0.0479233	0.1687	0.0231	5008	,	,		18982	0.0		0.001	False		,,,				2504	0.0				p.Y168Y		Atlas-SNP	.											.	OR8J1	87	.	0			c.T504C						PASS	.	T		628,3774	272.5+/-270.8	48,532,1621	120	108	112		504	-2.3	1	11	dbSNP_120	112	9,8583	4.3+/-15.6	0,9,4287	no	coding-synonymous	OR8J1	NM_001005205.2		48,541,5908	CC,CT,TT		0.1047,14.2662,4.9023		168/317	56128226	637,12357	2201	4296	6497	SO:0001819	synonymous_variant	219477	exon1			GTCTTATTGCTCT	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.504T>C	11.37:g.56128226T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	161	73	0.453416	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	CCDS31529.1																																																																																			T|0.955;C|0.045	0.045	strong		0.388	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		C	56128226	T	C	56128226	2	2	22	1	0	0	0	0	0	0	0	1	11241	1500	52	2		2	OR8J1	11	56128226	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14303	56128226	78878290	6158	11266										
OR8U8	219417	hgsc.bcm.edu	37	chr11	56143952	56143952	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacagtgatcattcccatgTtgaatcccttaatctatagc	5	11	2	2	rs78408319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56143952T>C	ENST00000302270.1	+	1	853	c.853T>C	c.(853-855)Ttg>Ctg	p.L285L		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CATTCCCATGTTGAATCCCTT	0.388													T|||	237	0.0473243	0.1664	0.0231	5008	,	,		18826	0.0		0.001	False		,,,				2504	0.0				p.L285L		Atlas-SNP	.											.	OR8U1	59	.	0			c.T853C						PASS	.	T		535,3441		39,457,1492	139	144	142		853	-11.4	0.2	11	dbSNP_132	142	8,8396		0,8,4194	no	coding-synonymous	OR8U1	NM_001005204.1		39,465,5686	CC,CT,TT		0.0952,13.4557,4.3861		285/310	56143952	543,11837	1988	4202	6190	SO:0001819	synonymous_variant	219417	exon1			CCCATGTTGAATC	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"GPCR / Class A : Olfactory receptors"	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.853T>C	11.37:g.56143952T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	125	60	0.48	NM_001005204		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																			T|0.973;C|0.027	0.027	strong		0.388	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		C	56143952	T	C	56143952	2	2	22	1	0	0	0	0	0	0	0	1	11247	1722	60	2		2	OR8U8	11	56143952	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15726	56143952	78862564	6159	11267										
OR5R1	219479	hgsc.bcm.edu	37	chr11	56185327	56185327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgaataatgcaggggacTacagatggcgacatagcaat	12	6	0	2	rs7933772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56185327T>C	ENST00000312253.1	-	1	381	c.382A>G	c.(382-384)Agt>Ggt	p.S128G		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	128			S -> G (in dbSNP:rs7933772).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGCAGGGGACTACAGATGGCG	0.478													T|||	1391	0.277756	0.5378	0.1816	5008	,	,		21435	0.123		0.2664	False		,,,				2504	0.1656				p.S128G		Atlas-SNP	.											.	OR5R1	83	.	0			c.A382G						PASS	.	T	GLY/SER	2203,2199	587.9+/-386.8	567,1069,565	106	104	105		382	4.7	0.3	11	dbSNP_116	105	2394,6196	397.6+/-345.8	320,1754,2221	yes	missense	OR5R1	NM_001004744.1	56	887,2823,2786	CC,CT,TT		27.8696,49.9546,35.3833	benign	128/325	56185327	4597,8395	2201	4295	6496	SO:0001583	missense	219479	exon1			GGGGACTACAGAT	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.382A>G	11.37:g.56185327T>C	ENSP00000308595:p.Ser128Gly	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	43	28	0.651163	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	600	0.27472527472527475	249	0.5060975609756098	63	0.17403314917127072	80	0.13986013986013987	208	0.27440633245382584	T	14.94	2.686423	0.47991	0.500454	0.278696	ENSG00000174942	ENST00000312253	T	0.00478	7.13	5.78	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.200266	0.24488	U	0.038084	T	0.00012	0.0000	M	0.64997	1.995	0.58432	P	1.999999999946489E-6	B	0.22909	0.077	B	0.26614	0.071	T	0.16988	-1.0384	9	0.72032	D	0.01	-0.2935	10.9674	0.47421	0.0:0.0737:0.0:0.9263	rs7933772;rs52833006;rs58645970;rs7933772	128	Q8NH85	OR5R1_HUMAN	G	128	ENSP00000308595:S128G	ENSP00000308595:S128G	S	-	1	0	OR5R1	55941903	0.000000	0.05858	0.329000	0.25429	0.907000	0.53573	0.565000	0.23578	2.211000	0.71520	0.391000	0.25812	AGT	C|0.324;N|0.000	0.324	strong		0.478	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		C	56185327	T	C	56185327	3	2	22	1	0	0	0	0	1	0	0	0	11180	1522	53	3	594	3	OR5R1	11	56185327	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41375	56185327	78821189	6160	11268										
OR5R1	219479	hgsc.bcm.edu	37	chr11	56185689	56185689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgaatacagtgacataaAtgatattaacttcagccatt	6	6	1	3	rs7931261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56185689A>G	ENST00000312253.1	-	1	19	c.20T>C	c.(19-21)aTt>aCt	p.I7T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	7			I -> T (in dbSNP:rs7931261).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I7T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGTGACATAAATGATATTAAC	0.398													G|||	1415	0.282548	0.5386	0.1916	5008	,	,		20124	0.1369		0.2664	False		,,,				2504	0.1677				p.I7T		Atlas-SNP	.											OR5R1,NS,carcinoma,0,1	OR5R1	83	1	1	Substitution - Missense(1)	prostate(1)	c.T20C						PASS	.	G	THR/ILE	2208,2194	580.7+/-385.2	571,1066,564	76	87	83		20	5.7	0	11	dbSNP_116	83	2398,6192	693.5+/-404.7	320,1758,2217	yes	missense	OR5R1	NM_001004744.1	89	891,2824,2781	GG,GA,AA		27.9162,49.841,35.4526	benign	7/325	56185689	4606,8386	2201	4295	6496	SO:0001583	missense	219479	exon1			ACATAAATGATAT	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.20T>C	11.37:g.56185689A>G	ENSP00000308595:p.Ile7Thr	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	37	21	0.567568	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	609	0.27884615384615385	250	0.508130081300813	63	0.17403314917127072	88	0.15384615384615385	208	0.27440633245382584	G	1.234	-0.623366	0.03636	0.50159	0.279162	ENSG00000174942	ENST00000312253	T	0.02863	4.13	5.7	5.7	0.88788	.	0.256774	0.20090	N	0.099479	T	0.00012	0.0000	N	0.00014	-2.905	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35500	-0.9786	9	0.02654	T	1	-8.0744	9.7118	0.40249	0.076:0.1401:0.7839:0.0	rs7931261;rs52793105;rs60855759;rs7931261	7	Q8NH85	OR5R1_HUMAN	T	7	ENSP00000308595:I7T	ENSP00000308595:I7T	I	-	2	0	OR5R1	55942265	0.000000	0.05858	0.004000	0.12327	0.307000	0.27823	0.400000	0.20932	1.434000	0.47414	-0.695000	0.03696	ATT	A|0.675;G|0.325	0.325	strong		0.398	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		G	56185689	A	G	56185689	3	3	22	1	0	0	0	0	1	0	0	0	11180	101	4	2	956	2	OR5R1	11	56185689	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	362	56185689	78820827	6161	11269										
OR5AK2	390181	hgsc.bcm.edu	37	chr11	56756565	56756565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagatttcaaacactcacGtacttttttctacaacattt	2	11	3	1	rs62001001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56756565G>A	ENST00000326855.2	+	1	219	c.177G>A	c.(175-177)acG>acA	p.T59T		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAACACTCACGTACTTTTTTC	0.363													.|||	58	0.0115815	0.0431	0.0014	5008	,	,		21424	0.0		0.0	False		,,,				2504	0.0				p.T59T		Atlas-SNP	.											OR5AK2,NS,carcinoma,0,1	OR5AK2	45	1	1	Substitution - coding silent(1)	prostate(1)	c.G177A						PASS	.	G		174,4228	113.8+/-151.8	2,170,2029	118	104	109		177	0.4	0.9	11	dbSNP_129	109	3,8589	2.2+/-6.3	0,3,4293	no	coding-synonymous	OR5AK2	NM_001005323.1		2,173,6322	AA,AG,GG		0.0349,3.9527,1.3622		59/310	56756565	177,12817	2201	4296	6497	SO:0001819	synonymous_variant	390181	exon1			ACTCACGTACTTT	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.177G>A	11.37:g.56756565G>A		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	251	116	0.462151	NM_001005323	B2RNZ9	Silent	SNP	ENST00000326855.2	37	CCDS31538.1																																																																																			G|0.987;A|0.013	0.013	strong		0.363	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		A	56756565	G	A	56756565	2	1	22	1	0	0	0	0	0	0	0	1	11142	1132	40	1		1	OR5AK2	11	56756565	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	570876	56756565	78249951	6162	11270										
LRRC55	219527	hgsc.bcm.edu	37	chr11	56949529	56949529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcccagcttccctggccCgggccaccccacccagcaat	10	20	0	0	rs80306837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:56949529C>T	ENST00000497933.1	+	1	309	c.162C>T	c.(160-162)ccC>ccT	p.P54P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	24	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTCCCTGGCCCGGGCCACCCC	0.632													C|||	184	0.0367412	0.1339	0.0101	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0				p.P54P		Atlas-SNP	.											.	LRRC55	52	.	0			c.C162T						PASS	.	C		516,3886	234.9+/-247.6	28,460,1713	43	38	40		162	-11.3	0.8	11	dbSNP_131	40	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	LRRC55	NM_001005210.2		28,464,6005	TT,TC,CC		0.0466,11.7219,4.0018		54/342	56949529	520,12474	2201	4296	6497	SO:0001819	synonymous_variant	219527	exon1			CTGGCCCGGGCCA		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.162C>T	11.37:g.56949529C>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	142	66	0.464789	NM_001005210	A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	CCDS31539.1																																																																																			C|0.952;T|0.048	0.048	strong		0.632	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		T	56949529	C	T	56949529	2	4	22	1	0	0	0	0	0	0	0	1	9011	639	23	1		1	LRRC55	11	56949529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	192964	56949529	78056987	6163	11271										
TNKS1BP1	85456	hgsc.bcm.edu	37	chr11	57077464	57077464	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtccctcttccccaaatcTtggccctgctcgttggcatc	8	16	2	0	rs10896602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57077464T>C	ENST00000532437.1	-	5	3032	c.2721A>G	c.(2719-2721)caA>caG	p.Q907Q	TNKS1BP1_ENST00000358252.3_Silent_p.Q907Q|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	907	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCCCCAAATCTTGGCCCTGCT	0.537													T|||	1661	0.331669	0.4531	0.2522	5008	,	,		19426	0.2827		0.33	False		,,,				2504	0.2761				p.Q907Q		Atlas-SNP	.											.	TNKS1BP1	148	.	0			c.A2721G						PASS	.	T		1893,2509	544.2+/-376.5	393,1107,701	190	185	186		2721	-1.2	0	11	dbSNP_120	186	2785,5807	442.5+/-360.1	456,1873,1967	no	coding-synonymous	TNKS1BP1	NM_033396.2		849,2980,2668	CC,CT,TT		32.4139,43.0032,36.0012		907/1730	57077464	4678,8316	2201	4296	6497	SO:0001819	synonymous_variant	85456	exon6			CAAATCTTGGCCC	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2721A>G	11.37:g.57077464T>C		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	182	92	0.505495	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																			T|0.650;C|0.350	0.350	strong		0.537	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		C	57077464	T	C	57077464	2	2	22	1	0	0	0	0	0	0	0	1	16317	1606	56	3		3	TNKS1BP1	11	57077464	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	127935	57077464	77929052	6164	11272										
SSRP1	6749	hgsc.bcm.edu	37	chr11	57101000	57101000	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagttttgaagaaatcagaGagtttctcaaactcctgtgg	10	6	2	4	rs7932705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57101000G>C	ENST00000278412.2	-	4	521	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	85					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AGAAATCAGAGAGTTTCTCAA	0.468													G|||	76	0.0151757	0.0537	0.0072	5008	,	,		19918	0.0		0.0	False		,,,				2504	0.0				p.L85L	Colon(89;1000 1340 6884 23013 41819)	Atlas-SNP	.											.	SSRP1	75	.	0			c.C255G						PASS	.	G		189,4213	122.1+/-159.5	2,185,2014	90	87	88		255	-0.2	1	11	dbSNP_116	88	5,8587	3.7+/-12.6	0,5,4291	no	coding-synonymous	SSRP1	NM_003146.2		2,190,6305	CC,CG,GG		0.0582,4.2935,1.493		85/710	57101000	194,12800	2201	4296	6497	SO:0001819	synonymous_variant	6749	exon4			ATCAGAGAGTTTC	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.255C>G	11.37:g.57101000G>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_003146	Q5BJG8	Silent	SNP	ENST00000278412.2	37	CCDS7952.1																																																																																			G|0.986;C|0.014	0.014	strong		0.468	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		C	57101000	G	C	57101000	2	2	22	1	0	0	0	0	0	0	0	1	15193	929	33	4		4	SSRP1	11	57101000	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23536	57101000	77905516	6165	11273										
CTNND1	1500	hgsc.bcm.edu	37	chr11	57563991	57563991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcgctatgggaccagaCgggttgcctgtggatgcttc	14	11	0	1	rs10896644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57563991C>T	ENST00000399050.4	+	6	1019	c.483C>T	c.(481-483)gaC>gaT	p.D161D	CTNND1_ENST00000534579.1_Silent_p.D107D|CTNND1_ENST00000361796.4_Silent_p.D161D|CTNND1_ENST00000532787.1_Silent_p.D60D|CTNND1_ENST00000415361.2_Silent_p.D60D|CTNND1_ENST00000360682.6_Silent_p.D161D|CTNND1_ENST00000529873.1_Silent_p.D107D|CTNND1_ENST00000428599.2_Silent_p.D161D|CTNND1_ENST00000528621.1_Silent_p.D107D|CTNND1_ENST00000528232.1_Silent_p.D60D|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000399039.4_Silent_p.D161D|CTNND1_ENST00000526938.1_Silent_p.D161D|CTNND1_ENST00000426142.2_Silent_p.D60D|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_Silent_p.D107D|CTNND1_ENST00000532463.1_Silent_p.D60D|CTNND1_ENST00000530748.1_Silent_p.D107D|CTNND1_ENST00000361391.6_Silent_p.D161D|CTNND1_ENST00000532245.1_Silent_p.D60D|CTNND1_ENST00000361332.4_Silent_p.D161D|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529919.1_Silent_p.D161D|CTNND1_ENST00000532649.1_Silent_p.D107D|CTNND1_ENST00000530094.1_Silent_p.D60D|CTNND1_ENST00000532844.1_Silent_p.D107D|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.D161D|CTNND1_ENST00000526357.1_Silent_p.D107D|CTNND1_ENST00000529986.1_Silent_p.D60D|CTNND1_ENST00000524630.1_Silent_p.D161D	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	161					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGGACCAGACGGGTTGCCTG	0.463													C|||	1359	0.271366	0.1762	0.3314	5008	,	,		20175	0.1012		0.4284	False		,,,				2504	0.3712				p.D161D		Atlas-SNP	.											.	CTNND1	203	.	0			c.C483T						PASS	.	C	,,,,,,,,,,,,,,,,,,,,,	893,3063		116,661,1201	82	86	85		483,483,483,483,483,180,180,180,180,180,180,180,321,321,483,321,321,321,321,180,321,483	-5.8	0.8	11	dbSNP_120	85	3413,4933		696,2021,1456	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CTNND1	NM_001085458.1,NM_001085459.1,NM_001085460.1,NM_001085461.1,NM_001085462.1,NM_001085463.1,NM_001085464.1,NM_001085465.1,NM_001085466.1,NM_001085467.1,NM_001085468.1,NM_001085469.1,NM_001206883.1,NM_001206884.1,NM_001206885.1,NM_001206886.1,NM_001206887.1,NM_001206888.1,NM_001206889.1,NM_001206890.1,NM_001206891.1,NM_001331.2	,,,,,,,,,,,,,,,,,,,,,	812,2682,2657	TT,TC,CC		40.8938,22.5733,35.0024	,,,,,,,,,,,,,,,,,,,,,	161/969,161/963,161/934,161/934,161/934,60/868,60/862,60/841,60/839,60/833,60/833,60/833,107/915,107/886,161/940,107/909,107/888,107/880,107/880,60/833,107/880,161/942	57563991	4306,7996	1978	4173	6151	SO:0001819	synonymous_variant	1500	exon6			ACCAGACGGGTTG	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.483C>T	11.37:g.57563991C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	116	61	0.525862	NM_001085461	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	CCDS44604.1																																																																																			C|0.728;T|0.272	0.272	strong		0.463	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		T	57563991	C	T	57563991	2	4	22	1	0	0	0	0	0	0	0	1	4019	535	19	1		1	CTNND1	11	57563991	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	462991	57563991	77442525	6166	11274										
OR6Q1	219952	hgsc.bcm.edu	37	chr11	57799109	57799109	+	Frame_Shift_Del	DEL	C	C	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcaacatcgtctggacaCtgctgcacatccgctcagct					rs34846253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57799109delC	ENST00000302622.3	+	1	708	c.685delC	c.(685-687)ctgfs	p.L230fs	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CGTCTGGACACTGCTGCACAT	0.532													C|C|-|deletion	594	0.11861	0.1225	0.1153	5008	,	,		22097	0.0218		0.2048	False		,,,				2504	0.1268				p.T228fs		Pindel,Atlas-Indel	.											.	OR6Q1	58	.	0			c.684delA	GRCh37	CD035873	OR6Q1	D	rs34846253	PASS	.			656,3608		57,542,1533	155	121	133			-7	0.1	11	dbSNP_126	158	1588,6664		147,1294,2685	no	frameshift	OR6Q1	NM_001005186.2		204,1836,4218	A1A1,A1R,RR		19.2438,15.3846,17.9291			57799109	2244,10272	2161	4187	6348	SO:0001589	frameshift_variant	219952	exon1			.	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.685delC	11.37:g.57799109delC	ENSP00000307734:p.Leu230fs	Somatic	205	.	.		WXS	Illumina HiSeq	Phase_I	218	65	0.298	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Frame_Shift_Del	DEL	ENST00000302622.3	37	CCDS31541.1																																																																																			C|0.867;-|0.133	0.133	strong		0.532	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		-	57799109	C	-	57799109	7	5	22	1	0	1	0	1	0	0	0	0	11208	564	20	0	687	0	OR6Q1	11	57799109	Frame_Shift_Del	DEL	C	TCGA-G8-6324-01A-11D-2210-10	235118	57799109	77207407	6167	11275										
OR6Q1	219952	hgsc.bcm.edu	37	chr11	57799371	57799371	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctcaacttttggaaggGacagtgaggaggcaggtggg	16	6	2	1	rs1374570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57799371G>C	ENST00000302622.3	+	1	970	c.947G>C	c.(946-948)gGa>gCa	p.G316A	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	316			G -> A (in dbSNP:rs1374570).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTTGGAAGGGACAGTGAGGA	0.448													G|||	2094	0.418131	0.4871	0.5418	5008	,	,		21163	0.244		0.5417	False		,,,				2504	0.2894				p.G316A		Atlas-SNP	.											OR6Q1,NS,carcinoma,-1,1	OR6Q1	58	1	0			c.G947C						PASS	.	G	ALA/GLY	2168,2114		585,998,558	39	41	40		947	2.4	0	11	dbSNP_88	40	4542,3790		1282,1978,906	yes	missense	OR6Q1	NM_001005186.2	60	1867,2976,1464	CC,CG,GG		45.4873,49.3695,46.8051	benign	316/318	57799371	6710,5904	2141	4166	6307	SO:0001583	missense	219952	exon1			GGAAGGGACAGTG	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.947G>C	11.37:g.57799371G>C	ENSP00000307734:p.Gly316Ala	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	60	0.983607	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	1028	0.4706959706959707	247	0.5020325203252033	210	0.580110497237569	159	0.27797202797202797	412	0.5435356200527705	G	10.01	1.234500	0.22626	0.506305	0.545127	ENSG00000172381	ENST00000302622	T	0.02103	4.45	4.29	2.38	0.29361	.	0.640127	0.12873	N	0.432114	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.24258	0.1	B	0.21708	0.036	T	0.09378	-1.0677	9	0.56958	D	0.05	.	11.799	0.52116	0.0:0.3418:0.6582:0.0	rs1374570;rs52838041;rs1374570	316	Q8NGQ2	OR6Q1_HUMAN	A	316	ENSP00000307734:G316A	ENSP00000307734:G316A	G	+	2	0	OR6Q1	57555947	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	0.146000	0.16180	0.443000	0.26582	-0.122000	0.15005	GGA	G|0.500;C|0.500	0.500	strong		0.448	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		C	57799371	G	C	57799371	3	2	22	1	0	0	0	0	1	0	0	0	11208	1174	41	4	949	4	OR6Q1	11	57799371	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262	57799371	77207145	6168	11276										
OR9Q2	219957	hgsc.bcm.edu	37	chr11	57958497	57958497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgagatcaacttcattttcTgtgacctccctcctctatta	4	12	4	2	rs34337292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57958497T>C	ENST00000311591.3	+	1	592	c.535T>C	c.(535-537)Tgt>Cgt	p.C179R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	179			C -> R (in dbSNP:rs34337292).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTCATTTTCTGTGACCTCCC	0.458													T|||	1021	0.203874	0.2806	0.2939	5008	,	,		22568	0.0734		0.2406	False		,,,				2504	0.1329				p.C179R		Atlas-SNP	.											OR9Q2,NS,carcinoma,-1,1	OR9Q2	78	1	0			c.T535C						scavenged	.	T	ARG/CYS	1245,3157	429.5+/-342.2	178,889,1134	112	108	109		535	5.1	1	11	dbSNP_126	109	2252,6340	380.7+/-339.8	303,1646,2347	yes	missense	OR9Q2	NM_001005283.2	180	481,2535,3481	CC,CT,TT		26.2104,28.2826,26.9124	probably-damaging	179/315	57958497	3497,9497	2201	4296	6497	SO:0001583	missense	219957	exon1			ATTTTCTGTGACC	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.535T>C	11.37:g.57958497T>C	ENSP00000308714:p.Cys179Arg	Somatic	358	2	0.00558659		WXS	Illumina HiSeq	Phase_I	384	194	0.505208	NM_001005283		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	480	0.21978021978021978	139	0.28252032520325204	106	0.292817679558011	53	0.09265734265734266	182	0.24010554089709762	T	19.00	3.741288	0.69304	0.282826	0.262104	ENSG00000186513	ENST00000311591	T	0.62498	0.02	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.00039	0.0001	H	0.97611	4.04	0.09310	P	0.99999999660194	D	0.63880	0.993	D	0.65573	0.936	T	0.01393	-1.1366	9	0.87932	D	0	-13.7757	14.4675	0.67494	0.0:0.0:0.0:1.0	rs34337292	179	Q8NGE9	OR9Q2_HUMAN	R	179	ENSP00000308714:C179R	ENSP00000308714:C179R	C	+	1	0	OR9Q2	57715073	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.986000	0.63851	2.264000	0.75181	0.533000	0.62120	TGT	T|0.754;C|0.246	0.246	strong		0.458	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		C	57958497	T	C	57958497	3	2	22	1	0	0	0	0	1	0	0	0	11256	1580	55	3	537	3	OR9Q2	11	57958497	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	159126	57958497	77048019	6169	11277										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971478	57971478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatccaagctgatagccacaAtgatgagcccgttcccaacc	7	14	0	3	rs11229281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57971478A>G	ENST00000302592.6	-	1	175	c.176T>C	c.(175-177)aTt>aCt	p.I59T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	59			I -> T (in dbSNP:rs11229281).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GATAGCCACAATGATGAGCCC	0.473													A|||	438	0.0874601	0.056	0.1095	5008	,	,		21576	0.0417		0.1083	False		,,,				2504	0.1401				p.I59T		Atlas-SNP	.											.	OR1S2	119	.	0			c.T176C						PASS	.	A	THR/ILE	230,4172	137.3+/-173.1	6,218,1977	207	192	197		176	4.3	0.9	11	dbSNP_120	197	834,7758	192.1+/-238.2	46,742,3508	yes	missense	OR1S2	NM_001004459.1	89	52,960,5485	GG,GA,AA		9.7067,5.2249,8.1884	probably-damaging	59/326	57971478	1064,11930	2201	4296	6497	SO:0001583	missense	219958	exon1			GCCACAATGATGA	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.176T>C	11.37:g.57971478A>G	ENSP00000305469:p.Ile59Thr	Somatic	391	0	0		WXS	Illumina HiSeq	Phase_I	398	181	0.454774	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	171	0.0782967032967033	38	0.07723577235772358	33	0.09116022099447514	22	0.038461538461538464	78	0.10290237467018469	A	11.87	1.767166	0.31320	0.052249	0.097067	ENSG00000197887	ENST00000302592	T	0.03124	4.04	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.274748	0.25552	N	0.029897	T	0.00384	0.0012	M	0.89414	3.03	0.44985	P	0.0019970000000000265	D	0.62365	0.991	P	0.56700	0.804	T	0.02860	-1.1101	9	0.87932	D	0	.	9.5868	0.39521	0.8241:0.1759:0.0:0.0	rs11229281	59	Q8NGQ3	OR1S2_HUMAN	T	59	ENSP00000305469:I59T	ENSP00000305469:I59T	I	-	2	0	OR1S2	57728054	0.574000	0.26684	0.928000	0.36995	0.353000	0.29299	4.177000	0.58276	1.921000	0.55644	0.533000	0.62120	ATT	A|0.913;G|0.087	0.087	strong		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971478	A	G	57971478	3	3	22	1	0	0	0	0	1	0	0	0	10973	101	4	2	804	2	OR1S2	11	57971478	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12981	57971478	77035038	6170	11278										
OR10Q1	219960	hgsc.bcm.edu	37	chr11	57996084	57996084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttctgggcccccaaaatGttggaaagcatcaagggtac	12	10	2	0	rs61902844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57996084G>A	ENST00000316770.2	-	1	306	c.264C>T	c.(262-264)aaC>aaT	p.N88N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCCCCAAAATGTTGGAAAGCA	0.542													g|||	1276	0.254792	0.1369	0.2882	5008	,	,		20320	0.1438		0.4404	False		,,,				2504	0.3139				p.N88N		Atlas-SNP	.											OR10Q1,NS,carcinoma,-2,1	OR10Q1	79	1	0			c.C264T						PASS	.	G		730,3672	300.7+/-286.5	72,586,1543	75	69	71		264	1.7	0.8	11	dbSNP_129	71	3741,4849	533.1+/-382.3	798,2145,1352	no	coding-synonymous	OR10Q1	NM_001004471.2		870,2731,2895	AA,AG,GG		43.5506,16.5834,34.4135		88/320	57996084	4471,8521	2201	4295	6496	SO:0001819	synonymous_variant	219960	exon1			CAAAATGTTGGAA	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.264C>T	11.37:g.57996084G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	81	44	0.54321	NM_001004471	Q6IFG4	Silent	SNP	ENST00000316770.2	37	CCDS31547.1																																																																																			G|0.667;A|0.333	0.333	strong		0.542	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		A	57996084	G	A	57996084	2	1	22	1	0	0	0	0	0	0	0	1	10916	1368	48	2		2	OR10Q1	11	57996084	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24606	57996084	77010432	6171	11279										
OR10Q1	219960	hgsc.bcm.edu	37	chr11	57996289	57996289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcagtggctgtggtgaacGcacggaacacaaactcagtg	12	9	2	1	rs112800197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:57996289G>A	ENST00000316770.2	-	1	101	c.59C>T	c.(58-60)gCg>gTg	p.A20V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTGGTGAACGCACGGAACAC	0.507													g|||	51	0.0101837	0.0378	0.0014	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0				p.A20V		Atlas-SNP	.											.	OR10Q1	79	.	0			c.C59T						PASS	.	G	VAL/ALA	114,4248		1,112,2068	126	133	130		59	-1.3	0	11	dbSNP_132	130	0,8558		0,0,4279	yes	missense	OR10Q1	NM_001004471.2	64	1,112,6347	AA,AG,GG		0.0,2.6135,0.8824	benign	20/320	57996289	114,12806	2181	4279	6460	SO:0001583	missense	219960	exon1			GTGAACGCACGGA	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.59C>T	11.37:g.57996289G>A	ENSP00000314324:p.Ala20Val	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	212	103	0.485849	NM_001004471	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	20	0.009157509157509158	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	0	0.0	G	2.409	-0.335766	0.05278	0.026135	0.0	ENSG00000180475	ENST00000316770	T	0.00330	8.08	4.98	-1.34	0.09143	.	0.376700	0.19161	N	0.121185	T	0.00039	0.0001	N	0.10760	0.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	10	0.51188	T	0.08	.	7.7104	0.28673	0.3775:0.1422:0.4802:0.0	.	20	Q8NGQ4	O10Q1_HUMAN	V	20	ENSP00000314324:A20V	ENSP00000314324:A20V	A	-	2	0	OR10Q1	57752865	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.355000	0.07671	-0.439000	0.07222	-0.295000	0.09555	GCG	G|0.991;A|0.009	0.009	strong		0.507	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		A	57996289	G	A	57996289	3	1	22	1	0	0	0	0	1	0	0	0	10916	1087	38	1	904	1	OR10Q1	11	57996289	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205	57996289	77010227	6172	11280										
OR5B3	441608	hgsc.bcm.edu	37	chr11	58169996	58169996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactttcttgaatgcactcTtcacttccttgttcctcaga	4	13	4	2	rs12279895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58169996T>C	ENST00000309403.2	-	1	886	c.887A>G	c.(886-888)aAg>aGg	p.K296R		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	296			K -> R (in dbSNP:rs12279895).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K296R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAATGCACTCTTCACTTCCTT	0.428													T|||	1453	0.290136	0.3533	0.2695	5008	,	,		20749	0.1448		0.3628	False		,,,				2504	0.2945				p.K296R		Atlas-SNP	.											OR5B3,NS,carcinoma,0,1	OR5B3	65	1	1	Substitution - Missense(1)	stomach(1)	c.A887G						PASS	.	T	ARG/LYS	1442,2960	468.1+/-355.0	229,984,988	159	132	142		887	3.9	0.9	11	dbSNP_120	142	3093,5497	473.7+/-368.7	549,1995,1751	yes	missense	OR5B3	NM_001005469.1	26	778,2979,2739	CC,CT,TT		36.007,32.7578,34.9061	possibly-damaging	296/315	58169996	4535,8457	2201	4295	6496	SO:0001583	missense	441608	exon1			GCACTCTTCACTT	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.887A>G	11.37:g.58169996T>C	ENSP00000308270:p.Lys296Arg	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	231	113	0.489177	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	655	0.2999084249084249	195	0.39634146341463417	89	0.24585635359116023	95	0.1660839160839161	276	0.3641160949868074	t	7.380	0.628589	0.14257	0.327578	0.36007	ENSG00000172769	ENST00000309403	T	0.23552	1.9	3.92	3.92	0.45320	.	0.314716	0.22940	N	0.053786	T	0.00012	0.0000	L	0.42744	1.35	0.80722	P	0.0	B	0.31752	0.338	B	0.33620	0.167	T	0.46190	-0.9209	9	0.72032	D	0.01	-24.2061	7.7587	0.28940	0.187:0.0:0.0:0.813	rs12279895;rs52812066;rs60634758;rs12279895	296	Q8NH48	OR5B3_HUMAN	R	296	ENSP00000308270:K296R	ENSP00000308270:K296R	K	-	2	0	OR5B3	57926572	0.022000	0.18835	0.891000	0.34965	0.096000	0.18686	0.918000	0.28678	1.768000	0.52137	0.533000	0.62120	AAG	T|0.672;C|0.328	0.328	strong		0.428	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		C	58169996	T	C	58169996	3	2	22	1	0	0	0	0	1	0	0	0	11152	1609	56	3	59	3	OR5B3	11	58169996	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	173707	58169996	76836520	6173	11281			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170025	58170025	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttcctcagactatagacCagagggttcagcatggggat	12	8	2	3	rs12271646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170025C>G	ENST00000309403.2	-	1	857	c.858G>C	c.(856-858)ctG>ctC	p.L286L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L286L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACTATAGACCAGAGGGTTCA	0.438													C|||	1453	0.290136	0.3533	0.2695	5008	,	,		20773	0.1448		0.3628	False		,,,				2504	0.2945				p.L286L		Atlas-SNP	.											OR5B3,NS,carcinoma,0,1	OR5B3	65	1	1	Substitution - coding silent(1)	stomach(1)	c.G858C						scavenged	.	C		1442,2960	468.3+/-355.1	229,984,988	140	121	127		858	-0.6	0.2	11	dbSNP_120	127	3093,5497	473.2+/-368.5	550,1993,1752	no	coding-synonymous	OR5B3	NM_001005469.1		779,2977,2740	GG,GC,CC		36.007,32.7578,34.9061		286/315	58170025	4535,8457	2201	4295	6496	SO:0001819	synonymous_variant	441608	exon1			ATAGACCAGAGGG	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.858G>C	11.37:g.58170025C>G		Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	217	105	0.483871	NM_001005469	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																			C|0.665;G|0.335	0.335	strong		0.438	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		G	58170025	C	G	58170025	2	3	22	1	0	0	0	0	0	0	0	1	11152	581	21	4		4	OR5B3	11	58170025	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29	58170025	76836491	6174	11282			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170143	58170143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatagtcccatagaagatgCcgactgcaatgaaatgagag	10	7	0	4	rs11229409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170143C>G	ENST00000309403.2	-	1	739	c.740G>C	c.(739-741)gGc>gCc	p.G247A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	247			G -> A (in dbSNP:rs11229409).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G247A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATAGAAGATGCCGACTGCAAT	0.428													G|||	1453	0.290136	0.3533	0.2695	5008	,	,		22285	0.1448		0.3628	False		,,,				2504	0.2945				p.G247A		Atlas-SNP	.											OR5B3,colon,carcinoma,-1,2	OR5B3	65	2	1	Substitution - Missense(1)	stomach(1)	c.G740C						scavenged	.	G	ALA/GLY	1442,2960	681.5+/-404.0	229,984,988	88	88	88		740	4.1	0.8	11	dbSNP_120	88	3093,5497	658.3+/-401.6	549,1995,1751	yes	missense	OR5B3	NM_001005469.1	60	778,2979,2739	GG,GC,CC		36.007,32.7578,34.9061	benign	247/315	58170143	4535,8457	2201	4295	6496	SO:0001583	missense	441608	exon1			AAGATGCCGACTG	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.740G>C	11.37:g.58170143C>G	ENSP00000308270:p.Gly247Ala	Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	113	57	0.504425	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	655	0.2999084249084249	195	0.39634146341463417	89	0.24585635359116023	95	0.1660839160839161	276	0.3641160949868074	g	4.175	0.031006	0.08101	0.327578	0.36007	ENSG00000172769	ENST00000309403	T	0.35789	1.29	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.290390	0.25050	N	0.033521	T	0.00012	0.0000	N	0.05230	-0.09	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44892	-0.9298	9	0.33141	T	0.24	-22.6339	6.9802	0.24698	0.096:0.1787:0.7253:0.0	rs11229409;rs52829287;rs60600384;rs11229409	247	Q8NH48	OR5B3_HUMAN	A	247	ENSP00000308270:G247A	ENSP00000308270:G247A	G	-	2	0	OR5B3	57926719	0.000000	0.05858	0.764000	0.31436	0.106000	0.19336	0.063000	0.14410	1.070000	0.40811	-0.127000	0.14921	GGC	C|0.674;G|0.326	0.326	strong		0.428	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		G	58170143	C	G	58170143	3	3	22	1	0	0	0	0	1	0	0	0	11152	739	26	4	206	4	OR5B3	11	58170143	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118	58170143	76836373	6175	11283			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170291	58170291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaagctcacaacataaaTaagaacaagctcgctaatat	5	8	1	2	rs11229410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170291T>C	ENST00000309403.2	-	1	591	c.592A>G	c.(592-594)Att>Gtt	p.I198V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	198			I -> V (in dbSNP:rs11229410).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACAACATAAATAAGAACAAGC	0.373													C|||	1453	0.290136	0.3533	0.2695	5008	,	,		23834	0.1448		0.3628	False		,,,				2504	0.2945				p.I198V		Atlas-SNP	.											.	OR5B3	65	.	0			c.A592G						PASS	.	C	VAL/ILE	1442,2960	681.0+/-403.9	229,984,988	74	71	72		592	-8.1	0	11	dbSNP_120	72	3095,5495	658.3+/-401.6	550,1995,1750	yes	missense	OR5B3	NM_001005469.1	29	779,2979,2738	CC,CT,TT		36.0303,32.7578,34.9215	benign	198/315	58170291	4537,8455	2201	4295	6496	SO:0001583	missense	441608	exon1			CATAAATAAGAAC	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.592A>G	11.37:g.58170291T>C	ENSP00000308270:p.Ile198Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	655	0.2999084249084249	195	0.39634146341463417	89	0.24585635359116023	95	0.1660839160839161	276	0.3641160949868074	c	0.009	-1.829691	0.00584	0.327578	0.360303	ENSG00000172769	ENST00000309403	T	0.00091	8.74	4.05	-8.1	0.01086	GPCR, rhodopsin-like superfamily (1);	1.011050	0.07957	N	0.981760	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.06881	-1.0802	9	0.29301	T	0.29	-3.0942	9.5789	0.39475	0.0:0.1083:0.2724:0.6193	rs11229410;rs58700205;rs11229410	198	Q8NH48	OR5B3_HUMAN	V	198	ENSP00000308270:I198V	ENSP00000308270:I198V	I	-	1	0	OR5B3	57926867	0.524000	0.26282	0.001000	0.08648	0.011000	0.07611	0.903000	0.28475	-1.857000	0.01159	-0.147000	0.13772	ATT	C|0.321;T|0.679	0.321	strong		0.373	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		C	58170291	T	C	58170291	3	2	22	1	0	0	0	0	1	0	0	0	11152	1406	49	2	354	2	OR5B3	11	58170291	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	148	58170291	76836225	6176	11284			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170342	58170342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagagagaaccatgactgCtggaatatcacagaaaaagt	10	7	1	4	rs11229411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170342C>T	ENST00000309403.2	-	1	540	c.541G>A	c.(541-543)Gca>Aca	p.A181T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	181			A -> T (in dbSNP:rs11229411).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A181T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCATGACTGCTGGAATATCA	0.408													C|||	1453	0.290136	0.3533	0.2695	5008	,	,		23137	0.1448		0.3628	False		,,,				2504	0.2945				p.A181T		Atlas-SNP	.											OR5B3,NS,carcinoma,0,1	OR5B3	65	1	1	Substitution - Missense(1)	stomach(1)	c.G541A						PASS	.	C	THR/ALA	1442,2960	467.6+/-354.9	229,984,988	98	91	94		541	3	1	11	dbSNP_120	94	3095,5495	473.1+/-368.5	550,1995,1750	yes	missense	OR5B3	NM_001005469.1	58	779,2979,2738	TT,TC,CC		36.0303,32.7578,34.9215	possibly-damaging	181/315	58170342	4537,8455	2201	4295	6496	SO:0001583	missense	441608	exon1			TGACTGCTGGAAT	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.541G>A	11.37:g.58170342C>T	ENSP00000308270:p.Ala181Thr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	656	0.30036630036630035	195	0.39634146341463417	89	0.24585635359116023	95	0.1660839160839161	277	0.3654353562005277	c	13.88	2.369354	0.42003	0.327578	0.360303	ENSG00000172769	ENST00000309403	T	0.00130	8.69	4.05	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.146062	0.31976	N	0.006773	T	0.00012	0.0000	M	0.73962	2.25	0.46564	P	8.979999999999544E-4	D	0.56968	0.978	P	0.59825	0.864	T	0.34976	-0.9807	9	0.87932	D	0	-35.6255	10.4344	0.44426	0.0:0.6318:0.3682:0.0	rs11229411;rs61524907;rs11229411	181	Q8NH48	OR5B3_HUMAN	T	181	ENSP00000308270:A181T	ENSP00000308270:A181T	A	-	1	0	OR5B3	57926918	0.000000	0.05858	0.999000	0.59377	0.105000	0.19272	-0.039000	0.12124	2.264000	0.75181	0.650000	0.86243	GCA	C|0.676;T|0.324	0.324	strong		0.408	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		T	58170342	C	T	58170342	3	4	22	1	0	0	0	0	1	0	0	0	11152	797	28	2	405	2	OR5B3	11	58170342	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51	58170342	76836174	6177	11285			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170374	58170374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaaagtgatggacttcaTtggacttacagaaagagaga	11	4	1	5	rs12280114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170374T>C	ENST00000309403.2	-	1	508	c.509A>G	c.(508-510)aAt>aGt	p.N170S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	170			N -> S (in dbSNP:rs12280114).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N170S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGACTTCATTGGACTTACA	0.448													T|||	1453	0.290136	0.3533	0.2695	5008	,	,		22324	0.1448		0.3628	False		,,,				2504	0.2945				p.N170S		Atlas-SNP	.											OR5B3,NS,carcinoma,0,1	OR5B3	65	1	1	Substitution - Missense(1)	stomach(1)	c.A509G						PASS	.	T	SER/ASN	1442,2960	467.9+/-355.0	229,984,988	107	99	102		509	1.7	0	11	dbSNP_120	102	3094,5496	473.6+/-368.6	550,1994,1751	yes	missense	OR5B3	NM_001005469.1	46	779,2978,2739	CC,CT,TT		36.0186,32.7578,34.9138	benign	170/315	58170374	4536,8456	2201	4295	6496	SO:0001583	missense	441608	exon1			ACTTCATTGGACT	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.509A>G	11.37:g.58170374T>C	ENSP00000308270:p.Asn170Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	655	0.2999084249084249	195	0.39634146341463417	89	0.24585635359116023	95	0.1660839160839161	276	0.3641160949868074	t	10.45	1.352391	0.24512	0.327578	0.360186	ENSG00000172769	ENST00000309403	T	0.00241	8.46	4.05	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.255793	0.27577	N	0.018745	T	0.00012	0.0000	M	0.91196	3.185	0.80722	P	0.0	P	0.44044	0.825	P	0.48524	0.58	T	0.17776	-1.0358	9	0.87932	D	0	-35.2106	7.5725	0.27915	0.0:0.1867:0.0:0.8133	rs12280114;rs52832394;rs57173256;rs12280114	170	Q8NH48	OR5B3_HUMAN	S	170	ENSP00000308270:N170S	ENSP00000308270:N170S	N	-	2	0	OR5B3	57926950	0.114000	0.22134	0.001000	0.08648	0.382000	0.30200	2.299000	0.43611	0.232000	0.21100	0.528000	0.53228	AAT	T|0.668;C|0.332	0.332	strong		0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		C	58170374	T	C	58170374	3	2	22	1	0	0	0	0	1	0	0	0	11152	1493	52	2	437	2	OR5B3	11	58170374	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32	58170374	76836142	6178	11286			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B3	441608	hgsc.bcm.edu	37	chr11	58170469	58170469	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatggccagacgagcacaCacagttgttgtcatggttgt	11	10	1	1	rs11229412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58170469C>A	ENST00000309403.2	-	1	413	c.414G>T	c.(412-414)gtG>gtT	p.V138V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V138V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACGAGCACACACAGTTGTTG	0.493													c|||	1453	0.290136	0.3525	0.2695	5008	,	,		20988	0.1448		0.3638	False		,,,				2504	0.2945				p.V138V		Atlas-SNP	.											OR5B3,NS,carcinoma,0,1	OR5B3	65	1	1	Substitution - coding silent(1)	stomach(1)	c.G414T						scavenged	.	C		1442,2960	467.9+/-355.0	229,984,988	121	109	113		414	-0.8	0.3	11	dbSNP_120	113	3094,5496	473.5+/-368.6	550,1994,1751	no	coding-synonymous	OR5B3	NM_001005469.1		779,2978,2739	AA,AC,CC		36.0186,32.7578,34.9138		138/315	58170469	4536,8456	2201	4295	6496	SO:0001819	synonymous_variant	441608	exon1			AGCACACACAGTT	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.414G>T	11.37:g.58170469C>A		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	124	69	0.556452	NM_001005469	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																			C|0.672;A|0.328	0.328	strong		0.493	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		A	58170469	C	A	58170469	2	1	22	1	0	0	0	0	0	0	0	1	11152	465	17	4		4	OR5B3	11	58170469	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95	58170469	76836047	6179	11287			22	51	50496947	7	7	474	N	T_C	2.700525e-08
OR5B2	390190	hgsc.bcm.edu	37	chr11	58190112	58190112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agataaagataactagaagaAcaaaaaagatattaaagctt	6	3	0	5	rs10466659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58190112A>G	ENST00000302581.2	-	1	674	c.623T>C	c.(622-624)gTt>gCt	p.V208A		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	208			V -> A (in dbSNP:rs10466659).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V208A(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACTAGAAGAACAAAAAAGAT	0.383													G|||	1120	0.223642	0.2708	0.2032	5008	,	,		22875	0.1448		0.2097	False		,,,				2504	0.2699				p.V208A		Atlas-SNP	.											OR5B2,NS,carcinoma,0,1	OR5B2	75	1	1	Substitution - Missense(1)	stomach(1)	c.T623C						PASS	.	G	ALA/VAL	1033,3369	726.5+/-409.7	104,825,1272	61	60	61		623	3.7	0.8	11	dbSNP_119	61	1854,6736	729.5+/-406.7	200,1454,2641	yes	missense	OR5B2	NM_001005566.2	64	304,2279,3913	GG,GA,AA		21.5832,23.4666,22.2214	benign	208/310	58190112	2887,10105	2201	4295	6496	SO:0001583	missense	390190	exon1			AGAAGAACAAAAA	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.623T>C	11.37:g.58190112A>G	ENSP00000303076:p.Val208Ala	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	92	41	0.445652	NM_001005566	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	476	0.21794871794871795	159	0.3231707317073171	60	0.16574585635359115	95	0.1660839160839161	162	0.21372031662269128	G	0.003	-2.458902	0.00173	0.234666	0.215832	ENSG00000172365	ENST00000302581	T	0.37235	1.21	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003307	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39313	-0.9620	9	0.07813	T	0.8	-5.0223	7.397	0.26942	0.1004:0.1696:0.73:0.0	rs10466659;rs17565464;rs10466659	208	Q96R09	OR5B2_HUMAN	A	208	ENSP00000303076:V208A	ENSP00000303076:V208A	V	-	2	0	OR5B2	57946688	0.013000	0.17824	0.831000	0.32960	0.037000	0.13140	1.975000	0.40569	0.932000	0.37266	-0.197000	0.12766	GTT	A|0.781;G|0.219	0.219	strong		0.383	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		G	58190112	A	G	58190112	3	3	22	1	0	0	0	0	1	0	0	0	11150	43	2	2	310	2	OR5B2	11	58190112	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19643	58190112	76816404	6180	11288										
OR5B2	390190	hgsc.bcm.edu	37	chr11	58190228	58190228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaagtgatgtaccagattGgatttacagaaagagagact	10	4	0	5	rs77952368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58190228G>A	ENST00000302581.2	-	1	558	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTACCAGATTGGATTTACAGA	0.453													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		22719	0.0		0.0	False		,,,				2504	0.0				p.S169S		Atlas-SNP	.											OR5B2,NS,carcinoma,-1,1	OR5B2	75	1	0			c.C507T						PASS	.	G		59,4343	56.2+/-92.4	1,57,2143	61	57	58		507	1.8	0	11	dbSNP_131	58	1,8589		0,1,4294	no	coding-synonymous	OR5B2	NM_001005566.2		1,58,6437	AA,AG,GG		0.0116,1.3403,0.4618		169/310	58190228	60,12932	2201	4295	6496	SO:0001819	synonymous_variant	390190	exon1			CAGATTGGATTTA	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.507C>T	11.37:g.58190228G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	72	43	0.597222	NM_001005566	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	CCDS31550.1																																																																																			G|0.993;A|0.007	0.007	strong		0.453	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		A	58190228	G	A	58190228	2	1	22	1	0	0	0	0	0	0	0	1	11150	1335	47	2		2	OR5B2	11	58190228	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	116	58190228	76816288	6181	11289										
OR5B12	390191	hgsc.bcm.edu	37	chr11	58207203	58207203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaggagcctatggccaggCaagcacatacatttgttgtc	11	9	0	0	rs11229457|rs386753911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58207203C>T	ENST00000302572.2	-	1	443	c.422G>A	c.(421-423)tGc>tAc	p.C141Y		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	141			C -> R (in dbSNP:rs4938895). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.|C -> Y (in dbSNP:rs11229457).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATGGCCAGGCAAGCACATAC	0.473													C|||	1119	0.223442	0.2708	0.2032	5008	,	,		20166	0.1438		0.2097	False		,,,				2504	0.2699				p.C141Y		Atlas-SNP	.											.	OR5B12	80	.	0			c.G422A						PASS	.	C	TYR/CYS	1033,3369	375.1+/-321.5	104,825,1272	135	128	131		422	2.5	0	11	dbSNP_120	131	1846,6744	321.6+/-315.2	199,1448,2648	yes	missense	OR5B12	NM_001004733.2	194	303,2273,3920	TT,TC,CC		21.4901,23.4666,22.1598	benign	141/315	58207203	2879,10113	2201	4295	6496	SO:0001583	missense	390191	exon1			GCCAGGCAAGCAC	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.422G>A	11.37:g.58207203C>T	ENSP00000306657:p.Cys141Tyr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_001004733	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	407	0.18635531135531136	127	0.258130081300813	57	0.1574585635359116	81	0.14160839160839161	142	0.18733509234828497	C	0.001	-3.150305	0.00029	0.234666	0.214901	ENSG00000172362	ENST00000302572	T	0.00084	8.75	4.44	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.766506	0.11955	N	0.513292	T	0.00012	0.0000	N	0.21097	0.63	0.80722	P	0.0	B	0.09022	0.002	B	0.10450	0.005	T	0.13361	-1.0512	9	0.02654	T	1	-16.6186	4.2654	0.10761	0.259:0.5239:0.1357:0.0815	rs11229457;rs60468483;rs11229457	141	Q96R08	OR5BC_HUMAN	Y	141	ENSP00000306657:C141Y	ENSP00000306657:C141Y	C	-	2	0	OR5B12	57963779	0.000000	0.05858	0.021000	0.16686	0.072000	0.16883	-1.307000	0.02733	0.560000	0.29169	0.462000	0.41574	TGC	C|0.782;T|0.218	0.218	strong		0.473	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		T	58207203	C	T	58207203	3	4	22	1	0	0	0	0	1	0	0	0	11148	710	25	2	526	2	OR5B12	11	58207203	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16975	58207203	76799313	6182	11290										
ZFP91	80829	hgsc.bcm.edu	37	chr11	58378424	58378424	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctatttacttatttttagtAgtgaagaggaagaggaggag	12	2	1	3	rs8373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58378424A>G	ENST00000316059.6	+	5	790	c.619A>G	c.(619-621)Agt>Ggt	p.S207G	ZFP91-CNTF_ENST00000389919.4_Splice_Site_p.S207G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	207	Glu-rich.		S -> G (in dbSNP:rs8373). {ECO:0000269|Ref.6}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TATTTTTAGTAGTGAAGAGGA	0.373													A|||	1075	0.214657	0.1626	0.2176	5008	,	,		17003	0.1835		0.2505	False		,,,				2504	0.2781				p.S207G		Atlas-SNP	.											.	ZFP91	66	.	0			c.A619G						PASS	.	A	,GLY/SER	631,3771	270.4+/-269.6	44,543,1614	73	65	68		,619	5.8	1	11	dbSNP_52	68	2108,6482	361.1+/-332.2	264,1580,2451	no	splice-3,missense-near-splice	ZFP91	NM_001197051.1,NM_053023.4	,56	308,2123,4065	GG,GA,AA		24.5402,14.3344,21.0822	,probably-damaging	,207/571	58378424	2739,10253	2201	4295	6496	SO:0001630	splice_region_variant	80829	exon5			TTTAGTAGTGAAG	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.618-1A>G	11.37:g.58378424A>G		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_053023	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	488	0.22344322344322345	109	0.22154471544715448	69	0.19060773480662985	114	0.1993006993006993	196	0.25857519788918204	A	17.02	3.282804	0.59867	0.143344	0.245402	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11930	2.73	5.76	5.76	0.90799	.	2.285560	0.01956	N	0.042984	T	0.00012	0.0000	N	0.24115	0.695	0.30548	P	0.765736	P	0.48764	0.915	B	0.40940	0.344	T	0.17440	-1.0369	9	0.15499	T	0.54	-3.059	8.6083	0.33786	0.9147:0.0:0.0853:0.0	rs8373;rs1129269;rs2275992;rs3177502;rs11541681;rs17016487;rs17489327;rs52827541;rs57129919;rs8373	207	Q96JP5	ZFP91_HUMAN	G	207	ENSP00000339030:S207G	ENSP00000374569:S207G	S	+	1	0	ZFP91	58135000	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.471000	0.60182	2.199000	0.70637	0.528000	0.53228	AGT	A|0.780;G|0.220	0.220	strong		0.373	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023	Missense_Mutation	G	58378424	A	G	58378424	5	3	22	1	0	0	0	0	0	0	1	0	17652	434	15	3	637	3	ZFP91	11	58378424	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	171221	58378424	76628092	6183	11291										
FAM111B	374393	hgsc.bcm.edu	37	chr11	58892558	58892558	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattctcccacctcaggatCtaagccattatattaaagat	4	10	3	1	rs35732637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58892558C>T	ENST00000343597.3	+	4	1179	c.988C>T	c.(988-990)Cta>Tta	p.L330L	FAM111B_ENST00000411426.1_Silent_p.L300L|FAM111B_ENST00000529618.1_Silent_p.L300L	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	330							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						ACCTCAGGATCTAAGCCATTA	0.373													C|||	538	0.107428	0.2005	0.0605	5008	,	,		17210	0.1786		0.004	False		,,,				2504	0.0481				p.L330L		Atlas-SNP	.											.	FAM111B	84	.	0			c.C988T						PASS	.	C	,,	595,3793		38,519,1637	71	84	79		898,898,988	-3.4	0	11	dbSNP_126	79	25,8561		0,25,4268	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	38,544,5905	TT,TC,CC		0.2912,13.5597,4.7788	,,	300/705,300/705,330/735	58892558	620,12354	2194	4293	6487	SO:0001819	synonymous_variant	374393	exon4			CAGGATCTAAGCC	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.988C>T	11.37:g.58892558C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	69	38	0.550725	NM_198947	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																			C|0.940;T|0.060	0.060	strong		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		T	58892558	C	T	58892558	2	4	22	1	0	0	0	0	0	0	0	1	5400	912	32	2		2	FAM111B	11	58892558	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	514134	58892558	76113958	6184	11292										
FAM111A	63901	hgsc.bcm.edu	37	chr11	58919813	58919813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaaaccatcaaggatgcActgtgcaaggatggcagatt	13	7	1	2	rs10896928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58919813A>G	ENST00000528737.1	+	5	3490	c.672A>G	c.(670-672)gcA>gcG	p.A224A	FAM111A_ENST00000361723.3_Silent_p.A224A|FAM111A_ENST00000420244.1_Silent_p.A224A|FAM111A_ENST00000531147.1_Silent_p.A224A|FAM111A_ENST00000533703.1_Silent_p.A224A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	224					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCAAGGATGCACTGTGCAAGG	0.408													G|||	1408	0.28115	0.3971	0.2507	5008	,	,		20950	0.2917		0.2028	False		,,,				2504	0.2157				p.A224A		Atlas-SNP	.											.	FAM111A	57	.	0			c.A672G						PASS	.	G	,,,,	1481,2921	677.6+/-403.4	255,971,975	122	122	122		672,672,672,672,672	-4.8	0	11	dbSNP_120	122	1826,6764	731.4+/-406.8	201,1424,2670	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM111A	NM_001142519.1,NM_001142520.1,NM_001142521.1,NM_022074.3,NM_198847.2	,,,,	456,2395,3645	GG,GA,AA		21.2573,33.6438,25.4541	,,,,	224/612,224/612,224/612,224/612,224/612	58919813	3307,9685	2201	4295	6496	SO:0001819	synonymous_variant	63901	exon5			GGATGCACTGTGC	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.672A>G	11.37:g.58919813A>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	30	0.5	NM_001142520	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	CCDS7973.1																																																																																			A|0.739;G|0.261	0.261	strong		0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		G	58919813	A	G	58919813	2	3	22	1	0	0	0	0	0	0	0	1	5399	146	6	2		2	FAM111A	11	58919813	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27255	58919813	76086703	6185	11293										
DTX4	23220	hgsc.bcm.edu	37	chr11	58949852	58949852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacccaacagcaagacCggaagggtggccctggccac	13	15	0	1	rs75403375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:58949852C>T	ENST00000227451.3	+	2	956	c.852C>T	c.(850-852)acC>acT	p.T284T	DTX4_ENST00000532982.1_Silent_p.T178T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	284					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACAGCAAGACCGGAAGGGTGG	0.637													C|||	135	0.0269569	0.0983	0.0072	5008	,	,		19567	0.0		0.0	False		,,,				2504	0.0				p.T284T		Atlas-SNP	.											.	DTX4	84	.	0			c.C852T						PASS	.	C		245,3755		7,231,1762	30	40	37		852	-9.1	0	11	dbSNP_132	37	0,8320		0,0,4160	no	coding-synonymous	DTX4	NM_015177.1		7,231,5922	TT,TC,CC		0.0,6.125,1.9886		284/620	58949852	245,12075	2000	4160	6160	SO:0001819	synonymous_variant	23220	exon2			CAAGACCGGAAGG	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.852C>T	11.37:g.58949852C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	49	25	0.510204	NM_015177	Q0VF38	Silent	SNP	ENST00000227451.3	37	CCDS44612.1																																																																																			C|0.975;T|0.025	0.025	strong		0.637	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		T	58949852	C	T	58949852	2	4	22	1	0	0	0	0	0	0	0	1	4797	639	23	1		1	DTX4	11	58949852	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30039	58949852	76056664	6186	11294										
OR4D11	219986	hgsc.bcm.edu	37	chr11	59271637	59271637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacacttttgctcttgagTtcttgatgatttccaacaat	6	9	2	4	rs7120079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59271637T>C	ENST00000313253.1	+	1	589	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	197			F -> L (in dbSNP:rs7120079).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F197L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGCTCTTGAGTTCTTGATGAT	0.498													N|||	1515	0.302516	0.289	0.2219	5008	,	,		21137	0.2758		0.3091	False		,,,				2504	0.3988				p.F197L		Atlas-SNP	.											OR4D11,NS,carcinoma,0,1	OR4D11	62	1	1	Substitution - Missense(1)	stomach(1)	c.T589C						scavenged	.	C	LEU/PHE	1225,3177		173,879,1149	221	211	214		589	1.1	0.7	11	dbSNP_116	214	2595,5995		396,1803,2096	yes	missense	OR4D11	NM_001004706.1	22	569,2682,3245	CC,CT,TT		30.2095,27.8283,29.4027	benign	197/312	59271637	3820,9172	2201	4295	6496	SO:0001583	missense	219986	exon1			CTTGAGTTCTTGA	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.589T>C	11.37:g.59271637T>C	ENSP00000320077:p.Phe197Leu	Somatic	431	3	0.00696056		WXS	Illumina HiSeq	Phase_I	427	220	0.515222	NM_001004706		Missense_Mutation	SNP	ENST00000313253.1	37	CCDS31563.1	646	0.2957875457875458	178	0.3617886178861789	89	0.24585635359116023	151	0.263986013986014	228	0.3007915567282322	N	0.008	-1.881657	0.00532	0.278283	0.302095	ENSG00000176200	ENST00000313253	T	0.00027	8.93	5.44	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.310617	0.23135	N	0.051532	T	0.00012	0.0000	N	0.00188	-1.89	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.02654	T	1	-13.1729	5.4471	0.16541	0.4598:0.3596:0.1128:0.0679	rs7120079;rs52793081;rs60254438;rs7120079	197	Q8NGI4	OR4DB_HUMAN	L	197	ENSP00000320077:F197L	ENSP00000320077:F197L	F	+	1	0	OR4D11	59028213	0.000000	0.05858	0.686000	0.30086	0.074000	0.17049	-0.412000	0.07132	-0.284000	0.09102	-0.226000	0.12346	TTC	T|0.696;C|0.304	0.304	strong		0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		C	59271637	T	C	59271637	3	2	22	1	0	0	0	0	1	0	0	0	11055	1725	60	2	591	2	OR4D11	11	59271637	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	321785	59271637	75734879	6187	11295										
OR4D9	390199	hgsc.bcm.edu	37	chr11	59282651	59282651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatagatcttctatcagagaCaaaaaccatctccttcagtg	6	10	5	2	rs76276934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59282651C>T	ENST00000329328.3	+	1	266	c.266C>T	c.(265-267)aCa>aTa	p.T89I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTATCAGAGACAAAAACCATC	0.483													c|||	108	0.0215655	0.0802	0.0029	5008	,	,		20793	0.0		0.0	False		,,,				2504	0.0				p.T89I		Atlas-SNP	.											.	OR4D9	47	.	0			c.C266T						PASS	.	C	ILE/THR	263,4139	149.5+/-183.7	9,245,1947	122	118	119		266	-6.1	0	11	dbSNP_131	119	1,8589		0,1,4294	yes	missense	OR4D9	NM_001004711.1	89	9,246,6241	TT,TC,CC		0.0116,5.9746,2.032	benign	89/315	59282651	264,12728	2201	4295	6496	SO:0001583	missense	390199	exon1			CAGAGACAAAAAC	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.266C>T	11.37:g.59282651C>T	ENSP00000328563:p.Thr89Ile	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	174	88	0.505747	NM_001004711	Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	CCDS31564.1	53	0.024267399267399268	52	0.10569105691056911	1	0.0027624309392265192	0	0.0	0	0.0	C	1.435	-0.569257	0.03910	0.059746	1.16E-4	ENSG00000172742	ENST00000329328	T	0.01397	4.94	4.02	-6.07	0.02158	GPCR, rhodopsin-like superfamily (1);	0.913714	0.08973	U	0.866909	T	0.00039	0.0001	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46076	-0.9217	10	0.52906	T	0.07	.	2.2328	0.04001	0.3788:0.3173:0.1962:0.1076	.	89	Q8NGE8	OR4D9_HUMAN	I	89	ENSP00000328563:T89I	ENSP00000328563:T89I	T	+	2	0	OR4D9	59039227	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.882000	0.00714	-1.736000	0.01352	-1.265000	0.01443	ACA	C|0.979;T|0.021	0.021	strong		0.483	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		T	59282651	C	T	59282651	3	4	22	1	0	0	0	0	1	0	0	0	11059	478	17	2	268	2	OR4D9	11	59282651	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11014	59282651	75723865	6188	11296			23	52	1112182	5	5	649	N	T_G_C_A	9.834855e-05
OR4D9	390199	hgsc.bcm.edu	37	chr11	59282685	59282685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagtggctgtgtcactcaAatgttcttcttccaccttct	6	12	6	0	rs76175424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59282685A>G	ENST00000329328.3	+	1	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GTGTCACTCAAATGTTCTTCT	0.463													G|||	180	0.0359425	0.1331	0.0058	5008	,	,		19738	0.0		0.0	False		,,,				2504	0.0				p.Q100Q		Atlas-SNP	.											.	OR4D9	47	.	0			c.A300G						PASS	.	G		451,3951	784.6+/-414.7	18,415,1768	98	95	96		300	0.5	0.1	11	dbSNP_131	96	2,8588	818.8+/-406.8	0,2,4293	no	coding-synonymous	OR4D9	NM_001004711.1		18,417,6061	GG,GA,AA		0.0233,10.2453,3.4868		100/315	59282685	453,12539	2201	4295	6496	SO:0001819	synonymous_variant	390199	exon1			CACTCAAATGTTC	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.300A>G	11.37:g.59282685A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	169	87	0.514793	NM_001004711	Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																			A|0.966;G|0.034	0.034	strong		0.463	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		G	59282685	A	G	59282685	2	3	22	1	0	0	0	0	0	0	0	1	11059	11	1	2		2	OR4D9	11	59282685	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34	59282685	75723831	6189	11297			23	52	1112182	5	5	649	N	T_G_C_A	9.834855e-05
OR4D9	390199	hgsc.bcm.edu	37	chr11	59282838	59282838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtggcttcctgggtgggGggctttgtccactccatagc	14	11	0	0	rs75125922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59282838G>A	ENST00000329328.3	+	1	453	c.453G>A	c.(451-453)ggG>ggA	p.G151G		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	151				ASWVGGF -> GFLGGGL (in Ref. 2; AC019093). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGGGTGGGGGGCTTTGTCC	0.547													G|||	180	0.0359425	0.1331	0.0058	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.0				p.G151G		Atlas-SNP	.											.	OR4D9	47	.	0			c.G453A						PASS	.	G		451,3951	215.8+/-234.7	18,415,1768	81	79	79		453	2.1	1	11	dbSNP_131	79	2,8588	1.2+/-3.3	0,2,4293	no	coding-synonymous	OR4D9	NM_001004711.1		18,417,6061	AA,AG,GG		0.0233,10.2453,3.4868		151/315	59282838	453,12539	2201	4295	6496	SO:0001819	synonymous_variant	390199	exon1			GGTGGGGGGCTTT	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.453G>A	11.37:g.59282838G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	144	72	0.5	NM_001004711	Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																			G|0.966;A|0.034	0.034	strong		0.547	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		A	59282838	G	A	59282838	2	1	22	1	0	0	0	0	0	0	0	1	11059	1219	43	2		2	OR4D9	11	59282838	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153	59282838	75723678	6190	11298			23	52	1112182	5	5	649	N	T_G_C_A	9.834855e-05
OR4D9	390199	hgsc.bcm.edu	37	chr11	59282960	59282960	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacttgcctgcactgacaCcttcactctggagctcctga	7	15	2	2	rs113146895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59282960C>G	ENST00000329328.3	+	1	575	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCACTGACACCTTCACTCTG	0.453													C|||	108	0.0215655	0.0802	0.0029	5008	,	,		21548	0.0		0.0	False		,,,				2504	0.0				p.T192S		Atlas-SNP	.											.	OR4D9	47	.	0			c.C575G						PASS	.	C	SER/THR	263,4139	149.5+/-183.7	9,245,1947	189	162	171		575	3.5	0.1	11	dbSNP_132	171	1,8589		0,1,4294	yes	missense	OR4D9	NM_001004711.1	58	9,246,6241	GG,GC,CC		0.0116,5.9746,2.032	possibly-damaging	192/315	59282960	264,12728	2201	4295	6496	SO:0001583	missense	390199	exon1			CTGACACCTTCAC	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.575C>G	11.37:g.59282960C>G	ENSP00000328563:p.Thr192Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	169	82	0.485207	NM_001004711	Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	CCDS31564.1	53	0.024267399267399268	52	0.10569105691056911	1	0.0027624309392265192	0	0.0	0	0.0	C	11.61	1.689273	0.29962	0.059746	1.16E-4	ENSG00000172742	ENST00000329328	T	0.00207	8.55	4.44	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000628	T	0.00012	0.0000	M	0.78916	2.43	0.09310	N	1	D	0.53151	0.958	P	0.59825	0.864	T	0.37174	-0.9717	10	0.72032	D	0.01	-12.673	11.2423	0.48977	0.0:0.9081:0.0:0.0919	.	192	Q8NGE8	OR4D9_HUMAN	S	192	ENSP00000328563:T192S	ENSP00000328563:T192S	T	+	2	0	OR4D9	59039536	0.004000	0.15560	0.109000	0.21407	0.328000	0.28507	0.698000	0.25571	0.977000	0.38444	0.557000	0.71058	ACC	C|0.979;G|0.021	0.021	strong		0.453	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		G	59282960	C	G	59282960	3	3	22	1	0	0	0	0	1	0	0	0	11059	507	18	4	577	4	OR4D9	11	59282960	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122	59282960	75723556	6191	11299			23	52	1112182	5	5	649	N	T_G_C_A	9.834855e-05
OR4D9	390199	hgsc.bcm.edu	37	chr11	59283299	59283299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaaactgaagagacggcTaggacaatcagaaaggattt	13	5	1	3	rs79922105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59283299T>C	ENST00000329328.3	+	1	914	c.914T>C	c.(913-915)cTa>cCa	p.L305P		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AAGAGACGGCTAGGACAATCA	0.383													T|||	108	0.0215655	0.0802	0.0029	5008	,	,		20633	0.0		0.0	False		,,,				2504	0.0				p.L305P		Atlas-SNP	.											.	OR4D9	47	.	0			c.T914C						PASS	.	T	PRO/LEU	260,4142	140.0+/-175.5	8,244,1949	54	56	55		914	2.3	0	11	dbSNP_132	55	1,8589		0,1,4294	yes	missense	OR4D9	NM_001004711.1	98	8,245,6243	CC,CT,TT		0.0116,5.9064,2.0089	possibly-damaging	305/315	59283299	261,12731	2201	4295	6496	SO:0001583	missense	390199	exon1			GACGGCTAGGACA	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.914T>C	11.37:g.59283299T>C	ENSP00000328563:p.Leu305Pro	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	83	26	0.313253	NM_001004711	Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	CCDS31564.1	53	0.024267399267399268	52	0.10569105691056911	1	0.0027624309392265192	0	0.0	0	0.0	T	6.379	0.438092	0.12104	0.059064	1.16E-4	ENSG00000172742	ENST00000329328	T	0.38887	1.11	3.47	2.29	0.28610	.	0.257134	0.20056	U	0.100183	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.09975	-1.0650	10	0.37606	T	0.19	.	4.1407	0.10191	0.208:0.0:0.2151:0.5769	.	305	Q8NGE8	OR4D9_HUMAN	P	305	ENSP00000328563:L305P	ENSP00000328563:L305P	L	+	2	0	OR4D9	59039875	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.303000	0.33470	0.480000	0.27534	-0.490000	0.04691	CTA	T|0.980;C|0.020	0.020	strong		0.383	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		C	59283299	T	C	59283299	3	2	22	1	0	0	0	0	1	0	0	0	11059	1522	53	3	916	3	OR4D9	11	59283299	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	339	59283299	75723217	6192	11300			23	52	1112182	5	5	649	N	T_G_C_A	9.834855e-05
OR10V1	390201	hgsc.bcm.edu	37	chr11	59480952	59480952	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacagatcgctataaactGgtcataagccatgactacca	8	10	1	3	rs386754016|rs499037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59480952G>A	ENST00000307552.2	-	1	385	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	123			Q -> R (in dbSNP:rs499033). {ECO:0000269|PubMed:12213199, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q123K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCTATAAACTGGTCATAAGCC	0.517													G|||	319	0.0636981	0.1127	0.1427	5008	,	,		20626	0.0377		0.0089	False		,,,				2504	0.0245				p.Q123X		Atlas-SNP	.											.	OR10V1	40	.	1	Substitution - Missense(1)	lung(1)	c.C367T						PASS	.	G	stop/GLN	389,4013	184.0+/-211.4	17,355,1829	73	61	65		367	4.4	1	11	dbSNP_83	65	108,8482	57.2+/-118.5	3,102,4190	yes	stop-gained	OR10V1	NM_001005324.1		20,457,6019	AA,AG,GG		1.2573,8.8369,3.8254		123/310	59480952	497,12495	2201	4295	6496	SO:0001587	stop_gained	390201	exon1			TAAACTGGTCATA	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.367C>T	11.37:g.59480952G>A	ENSP00000302199:p.Gln123*	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	69	26	0.376812	NM_001005324	Q6IFD9|Q96R50	Nonsense_Mutation	SNP	ENST00000307552.2	37	CCDS31565.1	108	0.04945054945054945	49	0.09959349593495935	37	0.10220994475138122	17	0.02972027972027972	5	0.006596306068601583	G	19.75	3.886451	0.72410	0.088369	0.012573	ENSG00000172289	ENST00000307552	.	.	.	4.36	4.36	0.52297	.	0.140023	0.32852	N	0.005569	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0805	0.42386	0.0:0.0:0.7996:0.2004	rs499037;rs499037	.	.	.	X	123	.	ENSP00000302199:Q123X	Q	-	1	0	OR10V1	59237528	0.999000	0.42202	1.000000	0.80357	0.723000	0.41478	2.450000	0.44943	2.453000	0.82957	0.543000	0.68304	CAG	G|0.953;A|0.047	0.047	strong		0.517	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		A	59480952	G	A	59480952	4	1	22	1	0	0	0	0	0	1	0	0	10920	1357	47	2	566	2	OR10V1	11	59480952	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	197653	59480952	75525564	6193	11301										
OR10V1	390201	hgsc.bcm.edu	37	chr11	59480969	59480969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggtcataagccatgactAccagcaggacacaatcagcc	8	13	2	1	rs472177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59480969A>G	ENST00000307552.2	-	1	368	c.350T>C	c.(349-351)gTa>gCa	p.V117A	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	117			V -> A (in dbSNP:rs472177).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGCCATGACTACCAGCAGGAC	0.507													G|||	936	0.186901	0.4796	0.1787	5008	,	,		20892	0.0685		0.0636	False		,,,				2504	0.046				p.V117A		Atlas-SNP	.											.	OR10V1	40	.	0			c.T350C						PASS	.	G	ALA/VAL	1772,2630	644.2+/-398.0	356,1060,785	76	64	68		350	4.4	0.9	11	dbSNP_83	68	529,8061	794.8+/-407.5	20,489,3786	yes	missense	OR10V1	NM_001005324.1	64	376,1549,4571	GG,GA,AA		6.1583,40.2544,17.7109	benign	117/310	59480969	2301,10691	2201	4295	6496	SO:0001583	missense	390201	exon1			ATGACTACCAGCA	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.350T>C	11.37:g.59480969A>G	ENSP00000302199:p.Val117Ala	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	29	0.39726	NM_001005324	Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	CCDS31565.1	353	0.16163003663003664	218	0.44308943089430897	56	0.15469613259668508	28	0.04895104895104895	51	0.06728232189973615	G	0.088	-1.171484	0.01660	0.402544	0.061583	ENSG00000172289	ENST00000307552	T	0.01295	5.04	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	N	0.000073	T	0.00012	0.0000	N	0.00230	-1.795	0.32056	P	0.5963350000000001	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	9	0.02654	T	1	.	10.7611	0.46266	0.0938:0.0:0.9062:0.0	rs472177;rs52800483;rs60332505;rs472177	117	Q8NGI7	O10V1_HUMAN	A	117	ENSP00000302199:V117A	ENSP00000302199:V117A	V	-	2	0	OR10V1	59237545	0.261000	0.24063	0.860000	0.33809	0.525000	0.34531	2.361000	0.44160	1.227000	0.43598	-0.245000	0.11935	GTA	A|0.824;G|0.176	0.176	strong		0.507	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		G	59480969	A	G	59480969	3	3	22	1	0	0	0	0	1	0	0	0	10920	391	14	2	583	2	OR10V1	11	59480969	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17	59480969	75525547	6194	11302										
OR10V1	390201	hgsc.bcm.edu	37	chr11	59481016	59481016	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagacaaagaaaaacatCtgggtgccacatcccgtgat	9	9	1	4	rs537595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59481016C>T	ENST00000307552.2	-	1	321	c.303G>A	c.(301-303)caG>caA	p.Q101Q	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGAAAAACATCTGGGTGCCAC	0.478													T|||	591	0.118011	0.3064	0.1527	5008	,	,		22641	0.0367		0.0189	False		,,,				2504	0.0245				p.Q101Q		Atlas-SNP	.											.	OR10V1	40	.	0			c.G303A						PASS	.	T		1037,3365	726.4+/-409.7	160,717,1324	74	66	69		303	-5.8	0.9	11	dbSNP_83	69	156,8434	811.8+/-407.1	3,150,4142	no	coding-synonymous	OR10V1	NM_001005324.1		163,867,5466	TT,TC,CC		1.8161,23.5575,9.1826		101/310	59481016	1193,11799	2201	4295	6496	SO:0001819	synonymous_variant	390201	exon1			AAACATCTGGGTG	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.303G>A	11.37:g.59481016C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	93	43	0.462366	NM_001005324	Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	CCDS31565.1																																																																																			C|0.894;T|0.106	0.106	strong		0.478	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		T	59481016	C	T	59481016	2	4	22	1	0	0	0	0	0	0	0	1	10920	912	32	2		2	OR10V1	11	59481016	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47	59481016	75525500	6195	11303										
GIF	2694	hgsc.bcm.edu	37	chr11	59612859	59612859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catactcacagcatgaactcTgggtctgggtactagtccca	9	12	3	1	rs35211634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59612859T>C	ENST00000257248.2	-	1	115	c.68A>G	c.(67-69)cAg>cGg	p.Q23R	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	23			Q -> R (in dbSNP:rs35211634). {ECO:0000269|PubMed:14695536, ECO:0000269|PubMed:15738392}.		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GCATGAACTCTGGGTCTGGGT	0.537													C|||	514	0.102636	0.2716	0.0331	5008	,	,		17712	0.0417		0.0567	False		,,,				2504	0.0337				p.Q23R	NSCLC(53;1139 1245 16872 38474 42853)	Atlas-SNP	.											.	GIF	43	.	0			c.A68G						PASS	.	C	ARG/GLN	866,3536	744.2+/-411.5	90,686,1425	152	149	150	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	68	-4.4	0	11	dbSNP_126	150	413,8177	800.6+/-407.4	18,377,3900	yes	missense	GIF	NM_005142.2	43	108,1063,5325	CC,CT,TT		4.8079,19.6729,9.8445	benign	23/418	59612859	1279,11713	2201	4295	6496	SO:0001583	missense	2694	exon1			GAACTCTGGGTCT	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.68A>G	11.37:g.59612859T>C	ENSP00000257248:p.Gln23Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_005142	B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	CCDS7977.1	185	0.08470695970695971	117	0.23780487804878048	10	0.027624309392265192	13	0.022727272727272728	45	0.059366754617414245	C	2.352	-0.348630	0.05208	0.196729	0.048079	ENSG00000134812	ENST00000257248	T	0.34667	1.35	5.46	-4.43	0.03568	.	0.905508	0.09152	N	0.841440	T	0.00012	0.0000	N	0.01267	-0.92	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44528	-0.9322	9	0.11794	T	0.64	2.9968	14.5605	0.68133	0.0:0.2199:0.0:0.7801	rs35211634;rs35211634	23;23	B4DVY6;P27352	.;IF_HUMAN	R	23	ENSP00000257248:Q23R	ENSP00000257248:Q23R	Q	-	2	0	GIF	59369435	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.402000	0.01047	-1.452000	0.01931	-0.215000	0.12644	CAG	T|0.902;C|0.098	0.098	strong		0.537	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		C	59612859	T	C	59612859	3	2	22	1	0	0	0	0	1	0	0	0	6376	1580	55	3	1221	3	GIF	11	59612859	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	131843	59612859	75393657	6196	11304										
TCN1	6947	hgsc.bcm.edu	37	chr11	59623433	59623433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctgcagcgtttggattGctgaatgctccttgagaaat	13	7	0	2	rs1042613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59623433G>A	ENST00000257264.3	-	6	950	c.846C>T	c.(844-846)agC>agT	p.S282S	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	282	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.S282S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTTTGGATTGCTGAATGCTC	0.433													a|||	1491	0.297724	0.5484	0.1556	5008	,	,		17327	0.1607		0.2266	False		,,,				2504	0.274				p.S282S		Atlas-SNP	.											TCN1,NS,carcinoma,0,1	TCN1	64	1	1	Substitution - coding silent(1)	stomach(1)	c.C846T						PASS	.			2036,2366	610.4+/-391.6	470,1096,635	129	130	130		846	2.2	0	11	dbSNP_86	130	1898,6692	727.3+/-406.6	211,1476,2608	no	coding-synonymous	TCN1	NM_001062.3		681,2572,3243	AA,AG,GG		22.0955,46.2517,30.2802		282/434	59623433	3934,9058	2201	4295	6496	SO:0001819	synonymous_variant	6947	exon6			TGGATTGCTGAAT	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.846C>T	11.37:g.59623433G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	129	127	0.984496	NM_001062	A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	CCDS7978.1																																																																																			G|0.704;A|0.296	0.296	strong		0.433	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		A	59623433	G	A	59623433	2	1	22	1	0	0	0	0	0	0	0	1	15703	1310	46	2		2	TCN1	11	59623433	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10574	59623433	75383083	6197	11305										
MS4A6A	64231	hgsc.bcm.edu	37	chr11	59943082	59943082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccaaccaggctgctatgCacctgaaagagaaatgttgg	10	10	0	2	rs138028890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:59943082C>T	ENST00000530839.1	-	6	834	c.342G>A	c.(340-342)gtG>gtA	p.V114V	MS4A6A_ENST00000412309.2_Silent_p.V142V|MS4A6A_ENST00000323961.3_Silent_p.V114V|MS4A6A_ENST00000528851.1_Silent_p.V114V|MS4A6A_ENST00000426738.2_Silent_p.V69V|MS4A6A_ENST00000533023.1_Silent_p.V50V|MS4A6A_ENST00000529054.1_Silent_p.V142V|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000420732.2_Silent_p.V114V	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	114						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTGCTATGCACCTGAAAGA	0.448													C|||	9	0.00179712	0.0068	0.0	5008	,	,		21254	0.0		0.0	False		,,,				2504	0.0				p.V142V		Atlas-SNP	.											.	MS4A6A	85	.	0			c.G426A						PASS	.	C	,,	26,4376	31.7+/-61.6	0,26,2175	95	84	88		342,342,342	-5.1	0	11	dbSNP_134	88	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	MS4A6A	NM_022349.2,NM_152851.1,NM_152852.1	,,	0,26,6470	TT,TC,CC		0.0,0.5906,0.2001	,,	114/226,114/179,114/249	59943082	26,12966	2201	4295	6496	SO:0001819	synonymous_variant	64231	exon6			GCTATGCACCTGA	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.342G>A	11.37:g.59943082C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	110	64	0.581818	NM_001247999	A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	CCDS7981.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	1.565	-0.535705	0.04082	0.005906	0.0	ENSG00000110077	ENST00000533989	.	.	.	4.99	-5.13	0.02884	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25187	-1.0139	4	.	.	.	.	0.3632	0.00367	0.2373:0.2707:0.2458:0.2462	.	.	.	.	Y	49	.	.	C	-	2	0	MS4A6A	59699658	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.770000	0.01791	-0.810000	0.04375	-0.976000	0.02587	TGC	C|0.997;T|0.003	0.003	strong		0.448	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			T	59943082	C	T	59943082	2	4	22	1	0	0	0	0	0	0	0	1	9864	697	25	2		2	MS4A6A	11	59943082	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	319649	59943082	75063434	6198	11306										
MS4A7	58475	hgsc.bcm.edu	37	chr11	60154242	60154242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaaaacaatcaactaagcCctttgtaagtataaggacca	7	8	1	0	rs2233249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60154242C>A	ENST00000300184.3	+	4	531	c.335C>A	c.(334-336)cCc>cAc	p.P112H	MS4A7_ENST00000358246.1_Missense_Mutation_p.P67H|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.P67H|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	112			P -> H (in dbSNP:rs2233249).			integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TCAACTAAGCCCTTTGTAAGT	0.373													C|||	122	0.024361	0.0688	0.0058	5008	,	,		20741	0.001		0.0	False		,,,				2504	0.0266				p.P112H		Atlas-SNP	.											.	MS4A7	38	.	0			c.C335A						PASS	.	C	HIS/PRO,HIS/PRO,HIS/PRO,HIS/PRO	306,4100	166.5+/-197.7	9,288,1906	132	122	125		335,200,335,200	-0.3	0	11	dbSNP_98	125	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense,missense	MS4A7	NM_021201.4,NM_206938.1,NM_206939.1,NM_206940.1	77,77,77,77	9,290,6204	AA,AC,CC		0.0233,6.9451,2.3681	probably-damaging,probably-damaging,probably-damaging,probably-damaging	112/241,67/196,112/241,67/196	60154242	308,12698	2203	4300	6503	SO:0001583	missense	58475	exon4			CTAAGCCCTTTGT	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.335C>A	11.37:g.60154242C>A	ENSP00000300184:p.Pro112His	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	112	53	0.473214	NM_021201	A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	CCDS7985.1	34	0.015567765567765568	31	0.06300813008130081	3	0.008287292817679558	0	0.0	0	0.0	C	10.60	1.397107	0.25205	0.069451	2.33E-4	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000528215	T;T;T;T;T	0.68624	4.35;4.35;4.35;4.35;-0.34	3.81	-0.294	0.12831	.	2.546860	0.01657	N	0.024878	T	0.21387	0.0515	M	0.66939	2.045	0.09310	N	1	D;D;D	0.76494	0.992;0.99;0.999	P;P;D	0.65323	0.873;0.723;0.934	T	0.44174	-0.9345	10	0.18710	T	0.47	-25.1732	3.2297	0.06744	0.1847:0.5024:0.0:0.3128	rs2233249;rs52808452;rs60638376;rs2233249	67;67;112	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	H	112;67;67;67;38	ENSP00000300184:P112H;ENSP00000350983:P67H;ENSP00000434637:P67H;ENSP00000433861:P67H;ENSP00000431408:P38H	ENSP00000300184:P112H	P	+	2	0	MS4A7	59910818	0.000000	0.05858	0.012000	0.15200	0.386000	0.30323	0.406000	0.21032	-0.149000	0.11215	-0.471000	0.05019	CCC	C|0.973;A|0.027	0.027	strong		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			A	60154242	C	A	60154242	3	1	22	1	0	0	0	0	1	0	0	0	9866	623	22	4	345	4	MS4A7	11	60154242	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	211160	60154242	74852274	6199	11307										
MS4A7	58475	hgsc.bcm.edu	37	chr11	60161273	60161273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctagagttcattttcctCgacccagtcacaagatcata	5	11	4	2	rs372900689		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60161273C>T	ENST00000300184.3	+	7	858	c.662C>T	c.(661-663)tCg>tTg	p.S221L	MS4A7_ENST00000534016.1_Missense_Mutation_p.S176L|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.S176L|MS4A14_ENST00000395005.2_5'Flank|MS4A14_ENST00000300187.6_5'Flank|MS4A14_ENST00000531783.1_5'Flank	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	221						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TCATTTTCCTCGACCCAGTCA	0.348																																					p.S221L		Atlas-SNP	.											.	MS4A7	38	.	0			c.C662T						PASS	.	C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	103	105	104		527,662,527,662	0	0	11		104	0,8600		0,0,4300	no	missense,missense,missense,missense	MS4A7	NM_206940.1,NM_206939.1,NM_206938.1,NM_021201.4	145,145,145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	176/196,221/241,176/196,221/241	60161273	1,13005	2203	4300	6503	SO:0001583	missense	58475	exon7			TTTCCTCGACCCA	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.662C>T	11.37:g.60161273C>T	ENSP00000300184:p.Ser221Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	70	41	0.585714	NM_021201	A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.453245	0.01071	2.27E-4	0.0	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530027	T;T;T;T	0.12984	3.36;2.63;2.63;2.9	3.79	-0.0112	0.13993	.	2.053890	0.03732	N	0.253570	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27434	-1.0074	10	0.02654	T	1	-35.547	3.542	0.07815	0.0:0.2192:0.1969:0.5839	.	176;221	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	L	221;176;176;157	ENSP00000300184:S221L;ENSP00000350983:S176L;ENSP00000434637:S176L;ENSP00000434819:S157L	ENSP00000300184:S221L	S	+	2	0	MS4A7	59917849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.094000	0.11094	-0.015000	0.14150	-0.592000	0.04112	TCG	.	.	weak		0.348	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			T	60161273	C	T	60161273	3	4	22	1	0	0	0	0	1	0	0	0	9866	893	31	1	684	1	MS4A7	11	60161273	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7031	60161273	74845243	6200	11308										
MS4A14	84689	hgsc.bcm.edu	37	chr11	60183401	60183401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatatatcacctgaagacttGccatcccaagctctaccagt	6	13	2	2	rs376669252		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60183401G>T	ENST00000300187.6	+	5	1237	c.960G>T	c.(958-960)ttG>ttT	p.L320F	MS4A14_ENST00000395005.2_Missense_Mutation_p.L303F|MS4A14_ENST00000531783.1_Missense_Mutation_p.L353F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.L208F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	320						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGAAGACTTGCCATCCCAAG	0.448																																					p.L353F		Atlas-SNP	.											.	MS4A14	120	.	0			c.G1059T						PASS	.	G	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	99	91	94		909,960	-0.6	0	11		94	0,8600		0,0,4300	no	missense,missense	MS4A14	NM_001079692.1,NM_032597.3	22,22	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	303/663,320/680	60183401	1,13005	2203	4300	6503	SO:0001583	missense	84689	exon6			AGACTTGCCATCC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.960G>T	11.37:g.60183401G>T	ENSP00000300187:p.Leu320Phe	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	164	77	0.469512	NM_001261828	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193578	0.22037	2.27E-4	0.0	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.39787	1.07;2.31;1.06;2.67	3.83	-0.63	0.11530	.	3.820730	0.00986	N	0.003454	T	0.32071	0.0817	L	0.36672	1.1	0.09310	N	1	P;P	0.40107	0.703;0.578	B;B	0.35413	0.202;0.099	T	0.27331	-1.0077	10	0.52906	T	0.07	-0.0477	5.6589	0.17658	0.0999:0.0:0.3621:0.5381	.	303;320	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	F	208;320;303;353	ENSP00000437222:L208F;ENSP00000300187:L320F;ENSP00000378453:L303F;ENSP00000433761:L353F	ENSP00000300187:L320F	L	+	3	2	MS4A14	59939977	0.000000	0.05858	0.007000	0.13788	0.081000	0.17604	-0.924000	0.03996	-0.103000	0.12175	-0.143000	0.13931	TTG	.	.	weak		0.448	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60183401	G	T	60183401	3	4	22	1	0	0	0	0	1	0	0	0	9858	1310	46	4	978	4	MS4A14	11	60183401	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22128	60183401	74823115	6201	11309										
MS4A15	219995	hgsc.bcm.edu	37	chr11	60531264	60531264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcccgccaaacaacgccAgtggcctctgcccacctccg	7	20	2	0	rs12363342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60531264A>G	ENST00000405633.3	+	2	137	c.58A>G	c.(58-60)Agt>Ggt	p.S20G	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.S20G	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	20			S -> G (in dbSNP:rs12363342).			integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						AAACAACGCCAGTGGCCTCTG	0.572													A|||	1321	0.263778	0.2398	0.2853	5008	,	,		20159	0.2123		0.3588	False		,,,				2504	0.2362				p.S20G		Atlas-SNP	.											.	MS4A15	37	.	0			c.A58G						PASS	.	A	GLY/SER,	1092,2998		168,756,1121	102	102	102		58,	4.1	1	11	dbSNP_120	102	3246,5118		639,1968,1575	yes	missense,intron	MS4A15	NM_001098835.1,NM_152717.2	56,	807,2724,2696	GG,GA,AA		38.8092,26.6993,34.8322	probably-damaging,	20/241,	60531264	4338,8116	2045	4182	6227	SO:0001583	missense	219995	exon2			AACGCCAGTGGCC	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.58A>G	11.37:g.60531264A>G	ENSP00000386022:p.Ser20Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	85	33	0.388235	NM_001098835	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	593	0.2715201465201465	108	0.21951219512195122	117	0.32320441988950277	99	0.17307692307692307	269	0.3548812664907652	A	13.46	2.242511	0.39598	0.266993	0.388092	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.17213	2.29;2.87	5.21	4.07	0.47477	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.40139	P	0.02318600000000004	D;D	0.63880	0.993;0.982	P;D	0.67548	0.842;0.952	T	0.46062	-0.9218	8	0.51188	T	0.08	-21.4375	7.8754	0.29590	0.9042:0.0:0.0958:0.0	rs12363342	20;20	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	G	20	ENSP00000434165:S20G;ENSP00000386022:S20G	ENSP00000386022:S20G	S	+	1	0	MS4A15	60287840	0.267000	0.24122	0.968000	0.41197	0.097000	0.18754	0.111000	0.15458	0.797000	0.33971	0.379000	0.24179	AGT	A|0.709;G|0.291	0.291	strong		0.572	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			G	60531264	A	G	60531264	3	3	22	1	0	0	0	0	1	0	0	0	9859	188	7	3	60	3	MS4A15	11	60531264	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	347863	60531264	74475252	6202	11310										
ZP1	22917	hgsc.bcm.edu	37	chr11	60642633	60642633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaggtcaccgtaatgaCactgccaggccccaggacat	9	15	2	1	rs112864814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60642633C>T	ENST00000278853.5	+	11	1686	c.1686C>T	c.(1684-1686)gaC>gaT	p.D562D		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	562					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCGTAATGACACTGCCAGGC	0.627													C|||	78	0.0155751	0.056	0.0029	5008	,	,		19463	0.0		0.002	False		,,,				2504	0.0				p.D562D		Atlas-SNP	.											.	ZP1	69	.	0			c.C1686T						PASS	.	C		240,4166	142.3+/-177.5	3,234,1966	69	73	72		1686	-4.2	0	11	dbSNP_132	72	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZP1	NM_207341.2		3,235,6264	TT,TC,CC		0.0116,5.4471,1.8533		562/639	60642633	241,12763	2203	4299	6502	SO:0001819	synonymous_variant	22917	exon11			TAATGACACTGCC	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1686C>T	11.37:g.60642633C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	126	60	0.47619	NM_207341		Silent	SNP	ENST00000278853.5	37	CCDS31572.1																																																																																			C|0.980;T|0.020	0.020	strong		0.627	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		T	60642633	C	T	60642633	2	4	22	1	0	0	0	0	0	0	0	1	18212	477	17	2		2	ZP1	11	60642633	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111369	60642633	74363883	6203	11311										
CD6	923	hgsc.bcm.edu	37	chr11	60776103	60776103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatcagtgtgcgatgacacTtgggacctggaggacgccca	15	10	1	1	rs61899223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60776103T>C	ENST00000313421.7	+	4	753	c.567T>C	c.(565-567)acT>acC	p.T189T	CD6_ENST00000344028.5_Silent_p.T189T|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Silent_p.T189T|CD6_ENST00000352009.5_Silent_p.T189T|CD6_ENST00000346437.4_Silent_p.T189T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	189	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GCGATGACACTTGGGACCTGG	0.711													T|||	795	0.158746	0.2693	0.1081	5008	,	,		15451	0.0764		0.1382	False		,,,				2504	0.1513				p.T189T	Pancreas(169;904 2017 4767 38890 42505)	Atlas-SNP	.											.	CD6	122	.	0			c.T567C						PASS	.	T		1091,3307		152,787,1260	47	34	38		567	-8	0	11	dbSNP_129	38	1154,7444		71,1012,3216	no	coding-synonymous	CD6	NM_006725.3		223,1799,4476	CC,CT,TT		13.4217,24.8067,17.2745		189/669	60776103	2245,10751	2199	4299	6498	SO:0001819	synonymous_variant	923	exon4			TGACACTTGGGAC		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.567T>C	11.37:g.60776103T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	110	53	0.481818	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	CCDS7999.1	286	0.13095238095238096	115	0.23373983739837398	45	0.12430939226519337	35	0.06118881118881119	91	0.12005277044854881	T	1.073	-0.669235	0.03403	0.248067	0.134217	ENSG00000013725	ENST00000538611	.	.	.	4.0	-8.0	0.01126	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999330317	.	.	.	.	.	.	T	0.15009	-1.0452	3	.	.	.	.	6.2436	0.20805	0.1516:0.5662:0.1209:0.1613	rs61899223	.	.	.	P	33	.	.	L	+	2	0	CD6	60532679	0.000000	0.05858	0.037000	0.18230	0.011000	0.07611	-0.993000	0.03720	-2.159000	0.00787	-1.231000	0.01572	CTT	T|0.838;C|0.162	0.162	strong		0.711	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		C	60776103	T	C	60776103	2	2	22	1	0	0	0	0	0	0	0	1	3028	1596	56	3		3	CD6	11	60776103	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	133470	60776103	74230413	6204	11312										
CD6	923	hgsc.bcm.edu	37	chr11	60776209	60776209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggccgcgggcctatccacCgggaccaggtgaactgctcg	14	16	0	1	rs11230563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60776209C>T	ENST00000313421.7	+	4	859	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	CD6_ENST00000344028.5_Missense_Mutation_p.R225W|CD6_ENST00000452451.2_Missense_Mutation_p.R225W|CD6_ENST00000346437.4_Missense_Mutation_p.R225W|CD6_ENST00000352009.5_Missense_Mutation_p.R225W|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	225	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.		R -> W (in dbSNP:rs11230563).		cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GCCTATCCACCGGGACCAGGT	0.711													C|||	1754	0.35024	0.612	0.2968	5008	,	,		13804	0.1706		0.3579	False		,,,				2504	0.2117				p.R225W	Pancreas(169;904 2017 4767 38890 42505)	Atlas-SNP	.											.	CD6	122	.	0			c.C673T						PASS	.	C	TRP/ARG	2381,2019		684,1013,503	17	18	18		673	1.2	0.4	11	dbSNP_120	18	2855,5731		483,1889,1921	yes	missense	CD6	NM_006725.3	101	1167,2902,2424	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	33.2518,45.8864,40.3203	benign	225/669	60776209	5236,7750	2200	4293	6493	SO:0001583	missense	923	exon4			ATCCACCGGGACC		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.673C>T	11.37:g.60776209C>T	ENSP00000323280:p.Arg225Trp	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	763	0.34935897435897434	288	0.5853658536585366	126	0.34806629834254144	92	0.16083916083916083	257	0.3390501319261214	C	11.21	1.572893	0.28092	0.541136	0.332518	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	4.21	1.17	0.20885	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.340153	0.20669	N	0.087870	T	0.00012	0.0000	N	0.16478	0.41	0.37772	P	0.07327799999999995	B;P;B;B;B	0.38642	0.434;0.641;0.173;0.371;0.443	B;B;B;B;B	0.32533	0.087;0.109;0.055;0.133;0.147	T	0.41431	-0.9509	9	0.59425	D	0.04	.	4.6963	0.12806	0.1512:0.6004:0.0:0.2484	rs11230563;rs57136002;rs11230563	225;225;225;225;225	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	W	225	ENSP00000344108:R225W;ENSP00000345566:R225W;ENSP00000323280:R225W;ENSP00000440055:R225W;ENSP00000410638:R225W;ENSP00000390676:R225W;ENSP00000340628:R225W	ENSP00000323280:R225W	R	+	1	2	CD6	60532785	0.439000	0.25610	0.353000	0.25747	0.098000	0.18820	1.031000	0.30165	0.412000	0.25729	0.655000	0.94253	CGG	C|0.622;T|0.378	0.378	strong		0.711	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		T	60776209	C	T	60776209	3	4	22	1	0	0	0	0	1	0	0	0	3028	643	23	1	687	1	CD6	11	60776209	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106	60776209	74230307	6205	11313										
CD6	923	hgsc.bcm.edu	37	chr11	60776307	60776307	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaagaggacgcgggcgcGgtgtgctcaggtcagtgggc	18	10	2	1	rs79848107|rs386754116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:60776307G>C	ENST00000313421.7	+	4	957	c.771G>C	c.(769-771)gcG>gcC	p.A257A	CD6_ENST00000344028.5_Silent_p.A257A|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Silent_p.A257A|CD6_ENST00000352009.5_Silent_p.A257A|CD6_ENST00000346437.4_Silent_p.A257A	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	257	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.		A -> V (in dbSNP:rs2074225). {ECO:0000269|PubMed:17371992, ECO:0000269|PubMed:1919444, ECO:0000269|PubMed:9013954}.		cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACGCGGGCGCGGTGTGCTCAG	0.652													G|||	834	0.166534	0.298	0.1095	5008	,	,		15908	0.0764		0.1382	False		,,,				2504	0.1513				p.A257A	Pancreas(169;904 2017 4767 38890 42505)	Atlas-SNP	.											CD6_ENST00000313421,NS,carcinoma,0,2	CD6	122	2	0			c.G771C						PASS	.						14	14	14					11																	60776307		2194	4286	6480	SO:0001819	synonymous_variant	923	exon4			GGGCGCGGTGTGC		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.771G>C	11.37:g.60776307G>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	CCDS7999.1	287	0.13141025641025642	120	0.24390243902439024	44	0.12154696132596685	35	0.06118881118881119	88	0.11609498680738786	G	0.743	-0.775758	0.02951	.	.	ENSG00000013725	ENST00000538611	.	.	.	4.42	-4.17	0.03857	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.29238	P	0.872832	.	.	.	.	.	.	T	0.20840	-1.0263	3	.	.	.	.	9.121	0.36786	0.2071:0.5517:0.2412:0.0	.	.	.	.	P	101	.	.	R	+	2	0	CD6	60532883	0.198000	0.23374	0.008000	0.14137	0.038000	0.13279	-0.013000	0.12678	-1.223000	0.02584	-0.175000	0.13238	CGG	G|0.870;C|0.130	0.130	strong		0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		C	60776307	G	C	60776307	2	2	22	1	0	0	0	0	0	0	0	1	3028	1103	39	4		4	CD6	11	60776307	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98	60776307	74230209	6206	11314										
VWCE	220001	hgsc.bcm.edu	37	chr11	61048322	61048322	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactccttgattcatgcatGgctcccaggtgccagcaggg	12	13	1	1	rs61744427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61048322G>C	ENST00000335613.5	-	8	1559	c.1173C>G	c.(1171-1173)gcC>gcG	p.A391A		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	391	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATTCATGCATGGCTCCCAGGT	0.662													G|||	142	0.0283546	0.0613	0.0058	5008	,	,		17203	0.0268		0.001	False		,,,				2504	0.0297				p.A391A		Atlas-SNP	.											.	VWCE	84	.	0			c.C1173G						PASS	.	G		240,4164		3,234,1965	12	14	13		1173	1.2	0.5	11	dbSNP_129	13	3,8587		0,3,4292	no	coding-synonymous	VWCE	NM_152718.2		3,237,6257	CC,CG,GG		0.0349,5.4496,1.8701		391/956	61048322	243,12751	2202	4295	6497	SO:0001819	synonymous_variant	220001	exon8			ATGCATGGCTCCC	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1173C>G	11.37:g.61048322G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	67	36	0.537313	NM_152718	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																			G|0.971;C|0.029	0.029	strong		0.662	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		C	61048322	G	C	61048322	2	2	22	1	0	0	0	0	0	0	0	1	17242	1335	47	4		4	VWCE	11	61048322	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	272015	61048322	73958194	6207	11315										
SYT7	9066	hgsc.bcm.edu	37	chr11	61291922	61291922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggggatggacacctccccAatggggtcgttgcggctgaa	16	10	0	1	rs10897167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61291922A>G	ENST00000263846.4	-	6	1032	c.705T>C	c.(703-705)atT>atC	p.I235I	SYT7_ENST00000535826.1_Silent_p.I354I|SYT7_ENST00000539008.1_Silent_p.I518I|SYT7_ENST00000540677.1_Silent_p.I310I|SYT7_ENST00000542670.1_Silent_p.I443I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Silent_p.I279I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	235	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACACCTCCCCAATGGGGTCGT	0.557													G|||	758	0.151358	0.4455	0.0504	5008	,	,		20942	0.002		0.0348	False		,,,				2504	0.0992				p.I310I		Atlas-SNP	.											.	SYT7	39	.	0			c.T930C						PASS	.	G		1686,2718	653.9+/-399.7	348,990,864	87	80	83		705	-7.1	0.6	11	dbSNP_120	83	378,8220	802.4+/-407.3	8,362,3929	no	coding-synonymous	SYT7	NM_004200.2		356,1352,4793	GG,GA,AA		4.3964,38.2834,15.8745		235/404	61291922	2064,10938	2202	4299	6501	SO:0001819	synonymous_variant	9066	exon7			CTCCCCAATGGGG	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.705T>C	11.37:g.61291922A>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_001252065	F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	CCDS31577.1																																																																																			A|0.836;G|0.164	0.164	strong		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		G	61291922	A	G	61291922	2	3	22	1	0	0	0	0	0	0	0	1	15476	126	5	2		2	SYT7	11	61291922	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	243600	61291922	73714594	6208	11316										
DAGLA	747	hgsc.bcm.edu	37	chr11	61511498	61511498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcggtgggggtggcgggcCggcctcccgcggggagctgg	24	11	0	0	rs3741252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61511498C>T	ENST00000257215.5	+	20	2782	c.2666C>T	c.(2665-2667)cCg>cTg	p.P889L	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	889			P -> L (in dbSNP:rs3741252).		arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGGCGGGCCGGCCTCCCGC	0.706													c|||	896	0.178914	0.3086	0.0504	5008	,	,		12076	0.2569		0.0954	False		,,,				2504	0.1002				p.P889L		Atlas-SNP	.											.	DAGLA	109	.	0			c.C2666T						PASS	.	T	LEU/PRO	1066,3312		114,838,1237	18	21	20		2666	-5.5	0	11	dbSNP_107	20	565,7987		18,529,3729	yes	missense	DAGLA	NM_006133.2	98	132,1367,4966	TT,TC,CC		6.6066,24.349,12.6141	benign	889/1043	61511498	1631,11299	2189	4276	6465	SO:0001583	missense	747	exon20			GCGGGCCGGCCTC	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2666C>T	11.37:g.61511498C>T	ENSP00000257215:p.Pro889Leu	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	17	12	0.705882	NM_006133	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	474	0.21703296703296704	171	0.3475609756097561	21	0.058011049723756904	214	0.3741258741258741	68	0.08970976253298153	c	0	-2.791726	0.00077	0.24349	0.066066	ENSG00000134780	ENST00000257215	T	0.20463	2.07	3.1	-5.51	0.02568	.	3.006760	0.01066	N	0.004721	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	9	0.11485	T	0.65	3.2016	9.9369	0.41556	0.0:0.3231:0.0967:0.5803	rs3741252	889	Q9Y4D2	DGLA_HUMAN	L	889	ENSP00000257215:P889L	ENSP00000257215:P889L	P	+	2	0	DAGLA	61268074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.895000	0.00707	-1.994000	0.00972	-3.260000	0.00049	CCG	C|0.840;T|0.160	0.160	strong		0.706	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61511498	C	T	61511498	3	4	22	1	0	0	0	0	1	0	0	0	4226	652	23	1	2740	1	DAGLA	11	61511498	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	219576	61511498	73495018	6209	11317										
RAB3IL1	5866	hgsc.bcm.edu	37	chr11	61672235	61672235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgcctcacctcctgcatTgtgaagtccaggcaggggcc	11	15	1	1	rs174473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61672235T>C	ENST00000394836.2	-	6	934	c.777A>G	c.(775-777)acA>acG	p.T259T	RAB3IL1_ENST00000301773.5_Silent_p.T233T	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	259					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCTCCTGCATTGTGAAGTCCA	0.682													C|||	1755	0.350439	0.3601	0.2161	5008	,	,		15452	0.378		0.2336	False		,,,				2504	0.5245				p.T259T		Atlas-SNP	.											.	RAB3IL1	39	.	0			c.A777G						PASS	.	C		1565,2829		282,1001,914	22	22	22		777	-4.3	0	11	dbSNP_79	22	1877,6717		220,1437,2640	no	coding-synonymous	RAB3IL1	NM_013401.2		502,2438,3554	CC,CT,TT		21.8408,35.6168,26.5014		259/383	61672235	3442,9546	2197	4297	6494	SO:0001819	synonymous_variant	5866	exon6			CTGCATTGTGAAG	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.777A>G	11.37:g.61672235T>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	230	87	0.378261	NM_013401	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																			T|0.713;C|0.287	0.287	strong		0.682	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		C	61672235	T	C	61672235	2	2	22	1	0	0	0	0	0	0	0	1	12937	1799	63	2		2	RAB3IL1	11	61672235	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	160737	61672235	73334281	6210	11318										
RAB3IL1	5866	hgsc.bcm.edu	37	chr11	61672265	61672265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcaggggcccacgtcctcTcggtacaccctttccaggaa	11	15	1	0	rs174474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61672265T>C	ENST00000394836.2	-	6	904	c.747A>G	c.(745-747)cgA>cgG	p.R249R	RAB3IL1_ENST00000301773.5_Silent_p.R223R	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	249					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCACGTCCTCTCGGTACACCC	0.667													C|||	1571	0.313698	0.27	0.2003	5008	,	,		15287	0.3353		0.2336	False		,,,				2504	0.5133				p.R249R		Atlas-SNP	.											RAB3IL1,NS,carcinoma,-2,1	RAB3IL1	39	1	0			c.A747G						PASS	.	C		1226,3178	670.8+/-402.4	167,892,1143	29	29	29		747	-2	1	11	dbSNP_79	29	1940,6658	699.3+/-405.1	222,1496,2581	no	coding-synonymous	RAB3IL1	NM_013401.2		389,2388,3724	CC,CT,TT		22.5634,27.8383,24.3501		249/383	61672265	3166,9836	2202	4299	6501	SO:0001819	synonymous_variant	5866	exon6			GTCCTCTCGGTAC	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.747A>G	11.37:g.61672265T>C		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	298	120	0.402685	NM_013401	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																			T|0.759;C|0.241	0.241	strong		0.667	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		C	61672265	T	C	61672265	2	2	22	1	0	0	0	0	0	0	0	1	12937	1538	54	3		3	RAB3IL1	11	61672265	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30	61672265	73334251	6211	11319										
RAB3IL1	5866	hgsc.bcm.edu	37	chr11	61675644	61675644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcggggccctcctggcctTgggcctcctcccctgcagag	13	18	0	1	rs174477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61675644T>C	ENST00000394836.2	-	2	303	c.146A>G	c.(145-147)cAa>cGa	p.Q49R	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.Q96R	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	49			Q -> R (in dbSNP:rs174477).		positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTCCTGGCCTTGGGCCTCCTC	0.682													T|||	369	0.0736821	0.0998	0.0807	5008	,	,		15756	0.0		0.1451	False		,,,				2504	0.0358				p.Q96R		Atlas-SNP	.											RAB3IL1,NS,carcinoma,0,1	RAB3IL1	39	1	0			c.A287G						PASS	.	T	ARG/GLN	439,3883		20,399,1742	8	9	9		146	-1.3	0.1	11	dbSNP_79	9	1141,7311		89,963,3174	no	missense	RAB3IL1	NM_013401.2	43	109,1362,4916	CC,CT,TT		13.4998,10.1573,12.3689	benign	49/383	61675644	1580,11194	2161	4226	6387	SO:0001583	missense	5866	exon2			TGGCCTTGGGCCT	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.146A>G	11.37:g.61675644T>C	ENSP00000378313:p.Gln49Arg	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	92	36	0.391304	NM_001271686	Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	CCDS8014.1	193	0.08836996336996338	53	0.10772357723577236	34	0.09392265193370165	0	0.0	106	0.13984168865435356	T	6.248	0.413969	0.11870	0.101573	0.134998	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.44881	0.91;0.91;0.91	4.73	-1.31	0.09230	.	0.527456	0.16430	N	0.214781	T	0.00144	0.0004	L	0.44542	1.39	0.80722	P	0.0	P;B	0.41265	0.744;0.089	B;B	0.31495	0.131;0.021	T	0.07385	-1.0775	9	0.41790	T	0.15	1.193	0.4651	0.00523	0.1991:0.3048:0.203:0.2931	rs174477	96;49	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	R	49;96;96	ENSP00000378313:Q49R;ENSP00000301773:Q96R;ENSP00000435444:Q96R	ENSP00000301773:Q96R	Q	-	2	0	RAB3IL1	61432220	0.013000	0.17824	0.103000	0.21229	0.109000	0.19521	-0.071000	0.11505	-0.066000	0.12998	0.459000	0.35465	CAA	T|0.917;C|0.083	0.083	strong		0.682	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		C	61675644	T	C	61675644	3	2	22	1	0	0	0	0	1	0	0	0	12937	1812	63	2	1038	2	RAB3IL1	11	61675644	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3379	61675644	73330872	6212	11320										
BEST1	7439	hgsc.bcm.edu	37	chr11	61719387	61719387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgctatatggcgagttcTtaatcttcctgctctgctac	8	11	3	0	rs1800007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61719387T>C	ENST00000378043.4	+	2	752	c.109T>C	c.(109-111)Tta>Cta	p.L37L	BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Silent_p.L37L|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	37					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGGCGAGTTCTTAATCTTCCT	0.572													T|||	3408	0.680511	0.7988	0.5893	5008	,	,		15117	0.8978		0.3052	False		,,,				2504	0.7474				p.L37L		Atlas-SNP	.											.	BEST1	85	.	0			c.T109C						PASS	.	T	,	3153,1251	703.6+/-407.0	1136,881,185	112	114	113		,109	-1.9	0.9	11	dbSNP_89	113	2663,5935	428.0+/-355.8	435,1793,2071	no	intron,coding-synonymous	BEST1	NM_001139443.1,NM_004183.3	,	1571,2674,2256	CC,CT,TT		30.9723,28.406,44.7316	,	,37/586	61719387	5816,7186	2202	4299	6501	SO:0001819	synonymous_variant	7439	exon2			GAGTTCTTAATCT	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.109T>C	11.37:g.61719387T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_004183	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																			T|0.448;C|0.552	0.552	strong		0.572	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61719387	T	C	61719387	2	2	22	1	0	0	0	0	0	0	0	1	1404	1606	56	3		3	BEST1	11	61719387	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43743	61719387	73287129	6213	11321										
BEST1	7439	hgsc.bcm.edu	37	chr11	61722645	61722645	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtattgcgacagctacatCcagctcatccccatttcctt	5	15	1	0	rs1109748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61722645C>A	ENST00000378043.4	+	3	862	c.219C>A	c.(217-219)atC>atA	p.I73I	BEST1_ENST00000378042.3_Silent_p.I13I|BEST1_ENST00000526988.1_5'UTR|BEST1_ENST00000449131.2_Silent_p.I13I|BEST1_ENST00000534553.1_5'UTR|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000435278.2_Silent_p.I73I	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	73			I -> N (in VMD2). {ECO:0000269|PubMed:11241846}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACAGCTACATCCAGCTCATCC	0.602													C|||	1590	0.317492	0.0825	0.2839	5008	,	,		13980	0.6498		0.0726	False		,,,				2504	0.5685				p.I73I		Atlas-SNP	.											.	BEST1	85	.	0			c.C219A						PASS	.	C	,	366,4038	187.1+/-213.8	19,328,1855	187	155	166	http://www.ncbi.nlm.nih.gov/pubmed?term	39,219	3.9	1	11	dbSNP_86	166	629,7969	162.0+/-214.8	30,569,3700	no	coding-synonymous,coding-synonymous	BEST1	NM_001139443.1,NM_004183.3	,	49,897,5555	AA,AC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	7.3157,8.3106,7.6527	,	13/605,73/586	61722645	995,12007	2202	4299	6501	SO:0001819	synonymous_variant	7439	exon3			CTACATCCAGCTC	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.219C>A	11.37:g.61722645C>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	135	68	0.503704	NM_004183	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																			C|0.838;A|0.162	0.162	strong		0.602	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		A	61722645	C	A	61722645	2	1	22	1	0	0	0	0	0	0	0	1	1404	845	30	4		4	BEST1	11	61722645	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3258	61722645	73283871	6214	11322										
BEST1	7439	hgsc.bcm.edu	37	chr11	61730234	61730234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcaagtgaggaggaaaacTgtggagtttaacctgacgga	13	6	1	2	rs1800009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61730234T>C	ENST00000378043.4	+	10	2251	c.1608T>C	c.(1606-1608)acT>acC	p.T536T	BEST1_ENST00000378042.3_Silent_p.T449T|BEST1_ENST00000449131.2_Silent_p.T476T|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Silent_p.T164T	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	536					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGAGGAAAACTGTGGAGTTTA	0.463													C|||	2962	0.591454	0.5348	0.4899	5008	,	,		21553	0.8552		0.3539	False		,,,				2504	0.7127				p.T536T		Atlas-SNP	.											.	BEST1	85	.	0			c.T1608C						PASS	.	C	,	2166,2238	593.3+/-388.0	530,1106,566	109	111	110		1428,1608	-4.6	0.8	11	dbSNP_89	110	3026,5572	663.5+/-402.1	553,1920,1826	no	coding-synonymous,coding-synonymous	BEST1	NM_001139443.1,NM_004183.3	,	1083,3026,2392	CC,CT,TT		35.1942,49.1826,39.9323	,	476/605,536/586	61730234	5192,7810	2202	4299	6501	SO:0001819	synonymous_variant	7439	exon10			GAAAACTGTGGAG	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1608T>C	11.37:g.61730234T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	126	67	0.531746	NM_004183	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																			C|0.406;N|0.000	0.406	strong		0.463	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61730234	T	C	61730234	2	2	22	1	0	0	0	0	0	0	0	1	1404	1567	55	3		3	BEST1	11	61730234	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7589	61730234	73276282	6215	11323										
BEST1	7439	hgsc.bcm.edu	37	chr11	61730414	61730414	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcattgccctgtgccccacCccagcttcccttgctctgag	8	18	1	1	rs115379107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61730414C>A	ENST00000378043.4	+	10	2382				BEST1_ENST00000378042.3_Intron|BEST1_ENST00000449131.2_Silent_p.T536T|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Silent_p.T224T	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGTGCCCCACCCCAGCTTCCC	0.557													C|||	141	0.028155	0.1014	0.0101	5008	,	,		20189	0.0		0.0	False		,,,				2504	0.0				p.T536T		Atlas-SNP	.											.	BEST1	85	.	0			c.C1608A						PASS	.	C	,	329,4041		12,305,1868	69	76	74		1608,	-0.5	0	11	dbSNP_132	74	0,8586		0,0,4293	no	coding-synonymous,intron	BEST1	NM_001139443.1,NM_004183.3	,	12,305,6161	AA,AC,CC		0.0,7.5286,2.5394	,	536/605,	61730414	329,12627	2185	4293	6478	SO:0001627	intron_variant	7439	exon9			CCCCACCCCAGCT	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+49C>A	11.37:g.61730414C>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	163	84	0.515337	NM_001139443	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																			C|0.974;A|0.026	0.026	strong		0.557	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		A	61730414	C	A	61730414	1	1	22	0	1	0	0	0	0	0	0	0	1404	610	22	4		4	BEST1	11	61730414	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180	61730414	73276102	6216	11324										
BEST1	7439	hgsc.bcm.edu	37	chr11	61730427	61730427	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccaccccagcttcccttGctctgagcctacccttcctc	5	22	1	1	rs115979721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61730427G>T	ENST00000378043.4	+	10	2382				FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.A541S|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.A229S	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGCTTCCCTTGCTCTGAGCCT	0.562													G|||	107	0.0213658	0.0764	0.0086	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.0				p.A541S		Atlas-SNP	.											.	BEST1	85	.	0			c.G1621T						PASS	.	G	SER/ALA,	74,1310		2,70,620	123	114	116		1621,	-5.3	0	11	dbSNP_132	116	0,3182		0,0,1591	yes	missense,intron	BEST1	NM_001139443.1,NM_004183.3	99,	2,70,2211	TT,TG,GG		0.0,5.3468,1.6207	,	541/605,	61730427	74,4492	692	1591	2283	SO:0001627	intron_variant	7439	exon9			TCCCTTGCTCTGA	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+62G>T	11.37:g.61730427G>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	165	81	0.490909	NM_001139443	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	40	0.018315018315018316	38	0.07723577235772358	2	0.0055248618784530384	0	0.0	0	0.0	G	12.96	2.094835	0.36952	0.053468	0.0	ENSG00000167995	ENST00000301774;ENST00000449131	T;D	0.97089	-0.32;-4.24	4.13	-5.35	0.02697	.	.	.	.	.	T	0.35098	0.0920	N	0.08118	0	0.09310	N	0.999995	B	0.17268	0.021	B	0.14023	0.01	T	0.73116	-0.4084	8	.	.	.	.	0.3641	0.00369	0.2188:0.2264:0.2454:0.3094	.	541	O76090-3	.	S	229;541	ENSP00000301774:A229S;ENSP00000399709:A541S	.	A	+	1	0	BEST1	61487003	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.419000	0.07071	-1.297000	0.02351	-0.311000	0.09066	GCT	G|0.977;T|0.023	0.023	strong		0.562	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		T	61730427	G	T	61730427	1	4	22	0	1	0	0	0	0	0	0	0	1404	1319	46	4		4	BEST1	11	61730427	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13	61730427	73276089	6217	11325										
INCENP	3619	hgsc.bcm.edu	37	chr11	61897542	61897542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcgccagaatgctgagcaGcatgtcacccagctcatgtc	11	13	2	2	rs145875137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61897542G>A	ENST00000394818.3	+	4	745	c.543G>A	c.(541-543)caG>caA	p.Q181Q	INCENP_ENST00000278849.4_Silent_p.Q181Q	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	181					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATGCTGAGCAGCATGTCACCC	0.617													G|||	13	0.00259585	0.0098	0.0	5008	,	,		16459	0.0		0.0	False		,,,				2504	0.0				p.Q181Q		Atlas-SNP	.											.	INCENP	122	.	0			c.G543A						PASS	.	G	,	50,4354	50.9+/-86.3	0,50,2152	65	56	59		543,543	1.8	0	11	dbSNP_134	59	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous	INCENP	NM_001040694.1,NM_020238.2	,	0,51,6450	AA,AG,GG		0.0116,1.1353,0.3922	,	181/919,181/915	61897542	51,12951	2202	4299	6501	SO:0001819	synonymous_variant	3619	exon4			TGAGCAGCATGTC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.543G>A	11.37:g.61897542G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	40	20	0.5	NM_001040694	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																			G|0.996;A|0.004	0.004	strong		0.617	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61897542	G	A	61897542	2	1	22	1	0	0	0	0	0	0	0	1	7733	962	34	2		2	INCENP	11	61897542	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	167115	61897542	73108974	6218	11326										
INCENP	3619	hgsc.bcm.edu	37	chr11	61906216	61906216	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaccccccgaggaggctGagcctgtggcggcagctgag	17	12	0	2	rs61751226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61906216G>A	ENST00000394818.3	+	6	1349	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	INCENP_ENST00000278849.4_Missense_Mutation_p.E383K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	383					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGAGGAGGCTGAGCCTGTGGC	0.642													G|||	58	0.0115815	0.0159	0.0	5008	,	,		17187	0.0		0.0	False		,,,				2504	0.0378				p.E383K		Atlas-SNP	.											.	INCENP	122	.	0			c.G1147A						PASS	.	G	LYS/GLU,LYS/GLU	83,4321	72.0+/-110.0	2,79,2121	47	53	51		1147,1147	1.9	0	11	dbSNP_129	51	1,8597		0,1,4298	yes	missense,missense	INCENP	NM_020238.2,NM_001040694.1	56,56	2,80,6419	AA,AG,GG		0.0116,1.8847,0.6461	benign,benign	383/915,383/919	61906216	84,12918	2202	4299	6501	SO:0001583	missense	3619	exon6			GAGGCTGAGCCTG	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1147G>A	11.37:g.61906216G>A	ENSP00000378295:p.Glu383Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_001040694	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	9.415	1.081416	0.20309	0.018847	1.16E-4	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.16743	2.37;2.32	4.98	1.93	0.25924	.	0.347185	0.24786	N	0.035604	T	0.05731	0.0150	M	0.68952	2.095	0.09310	N	1	P;B;B	0.43788	0.817;0.208;0.132	B;B;B	0.36666	0.23;0.038;0.017	T	0.12682	-1.0538	10	0.08381	T	0.77	.	4.7767	0.13182	0.1895:0.1777:0.6328:0.0	rs61751226	383;383;383	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	383	ENSP00000378295:E383K;ENSP00000278849:E383K	ENSP00000278849:E383K	E	+	1	0	INCENP	61662792	0.351000	0.24887	0.039000	0.18376	0.000000	0.00434	2.664000	0.46783	0.816000	0.34421	-0.768000	0.03414	GAG	G|0.995;A|0.005	0.005	strong		0.642	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61906216	G	A	61906216	3	1	22	1	0	0	0	0	1	0	0	0	7733	1291	45	2	1165	2	INCENP	11	61906216	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8674	61906216	73100300	6219	11327										
INCENP	3619	hgsc.bcm.edu	37	chr11	61906397	61906397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaataactcgtggccccacaAtgacacggagattgccaaca	8	12	0	2	rs138049815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61906397A>G	ENST00000394818.3	+	7	1413	c.1211A>G	c.(1210-1212)aAt>aGt	p.N404S	INCENP_ENST00000278849.4_Missense_Mutation_p.N404S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	404					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCCCCACAATGACACGGAG	0.587													A|||	13	0.00259585	0.0098	0.0	5008	,	,		17407	0.0		0.0	False		,,,				2504	0.0				p.N404S		Atlas-SNP	.											.	INCENP	122	.	0			c.A1211G						PASS	.	A	SER/ASN,SER/ASN	48,4356	49.6+/-84.7	0,48,2154	133	122	125		1211,1211	1.4	0.1	11	dbSNP_134	125	1,8597		0,1,4298	yes	missense,missense	INCENP	NM_020238.2,NM_001040694.1	46,46	0,49,6452	GG,GA,AA		0.0116,1.0899,0.3769	benign,benign	404/915,404/919	61906397	49,12953	2202	4299	6501	SO:0001583	missense	3619	exon7			CCCACAATGACAC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1211A>G	11.37:g.61906397A>G	ENSP00000378295:p.Asn404Ser	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	124	68	0.548387	NM_001040694	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	A	0.939	-0.710017	0.03230	0.010899	1.16E-4	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.13196	2.61;2.61	5.24	1.43	0.22495	.	0.301301	0.29113	N	0.013114	T	0.02156	0.0067	N	0.01410	-0.885	0.09310	N	1	B;B;B	0.18610	0.029;0.0;0.0	B;B;B	0.18871	0.023;0.001;0.001	T	0.44605	-0.9317	10	0.07325	T	0.83	.	6.0369	0.19712	0.4261:0.0:0.5739:0.0	.	404;404;404	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	S	404	ENSP00000378295:N404S;ENSP00000278849:N404S	ENSP00000278849:N404S	N	+	2	0	INCENP	61662973	0.048000	0.20356	0.068000	0.19968	0.006000	0.05464	0.392000	0.20801	0.558000	0.29135	-0.242000	0.12053	AAT	A|0.996;G|0.004	0.004	strong		0.587	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		G	61906397	A	G	61906397	3	3	22	1	0	0	0	0	1	0	0	0	7733	101	4	2	1233	2	INCENP	11	61906397	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	181	61906397	73100119	6220	11328										
INCENP	3619	hgsc.bcm.edu	37	chr11	61908440	61908440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaggaaccagatgctcaTgaccccgacctcagccccac	9	17	2	3	rs2277283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61908440T>C	ENST00000394818.3	+	10	1719	c.1517T>C	c.(1516-1518)aTg>aCg	p.M506T	INCENP_ENST00000278849.4_Missense_Mutation_p.M506T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	506			M -> T (in dbSNP:rs2277283).		chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATGCTCATGACCCCGACC	0.642													T|||	853	0.170327	0.1498	0.1916	5008	,	,		19216	0.0744		0.3002	False		,,,				2504	0.1483				p.M506T		Atlas-SNP	.											.	INCENP	122	.	0			c.T1517C						PASS	.	T	THR/MET,THR/MET	777,3627	310.8+/-291.8	67,643,1492	77	76	77		1517,1517	5.5	1	11	dbSNP_100	77	2670,5928	428.7+/-356.0	422,1826,2051	yes	missense,missense	INCENP	NM_001040694.1,NM_020238.2	81,81	489,2469,3543	CC,CT,TT		31.0537,17.6431,26.5113	probably-damaging,probably-damaging	506/919,506/915	61908440	3447,9555	2202	4299	6501	SO:0001583	missense	3619	exon10			TGCTCATGACCCC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1517T>C	11.37:g.61908440T>C	ENSP00000378295:p.Met506Thr	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	201	95	0.472637	NM_001040694	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	440	0.20146520146520147	79	0.16056910569105692	79	0.21823204419889503	39	0.06818181818181818	243	0.32058047493403696	T	15.33	2.802715	0.50315	0.176431	0.310537	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.39997	1.05;1.05	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000004	T	0.00012	0.0000	L	0.57536	1.79	0.21184	P	0.9997604	P;D;D	0.76494	0.568;0.999;0.998	P;D;D	0.77557	0.472;0.99;0.977	T	0.16364	-1.0405	9	0.35671	T	0.21	.	13.5006	0.61452	0.0:0.0:0.0:1.0	rs2277283;rs17707972	506;506;506	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	T	506	ENSP00000378295:M506T;ENSP00000278849:M506T	ENSP00000278849:M506T	M	+	2	0	INCENP	61665016	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.826000	0.75298	2.081000	0.62600	0.533000	0.62120	ATG	T|0.764;C|0.236;A|0.000	0.236	strong		0.642	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		C	61908440	T	C	61908440	3	2	22	1	0	0	0	0	1	0	0	0	7733	1464	51	2	1551	2	INCENP	11	61908440	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2043	61908440	73098076	6221	11329										
SCGB1D1	10648	hgsc.bcm.edu	37	chr11	61959636	61959636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttaaggcacctctggaagCtgttgcagccaagatggaag	12	8	1	1	rs116188604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:61959636C>T	ENST00000306238.3	+	2	233	c.164C>T	c.(163-165)gCt>gTt	p.A55V		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	55						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CCTCTGGAAGCTGTTGCAGCC	0.423													C|||	69	0.013778	0.0484	0.0058	5008	,	,		21854	0.0		0.001	False		,,,				2504	0.0				p.A55V		Atlas-SNP	.											SCGB1D1,NS,carcinoma,0,1	SCGB1D1	18	1	0			c.C164T						PASS	.	C	VAL/ALA	192,4212	122.1+/-159.5	6,180,2016	132	126	128		164	-4.4	0	11	dbSNP_132	128	4,8594	3.7+/-12.6	0,4,4295	yes	missense	SCGB1D1	NM_006552.1	64	6,184,6311	TT,TC,CC		0.0465,4.3597,1.5075	probably-damaging	55/91	61959636	196,12806	2202	4299	6501	SO:0001583	missense	10648	exon2			TGGAAGCTGTTGC	AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"Secretoglobins"	18395	protein-coding gene	gene with protein product	"prostatein-like lipophilin A", "lipophilin A (uteroglobin family member)"	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.164C>T	11.37:g.61959636C>T	ENSP00000303070:p.Ala55Val	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	165	88	0.533333	NM_006552		Missense_Mutation	SNP	ENST00000306238.3	37	CCDS8015.1	36	0.016483516483516484	30	0.06097560975609756	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	13.33	2.203741	0.38905	0.043597	4.65E-4	ENSG00000168515	ENST00000306238	T	0.15372	2.43	3.88	-4.42	0.03579	.	1.484950	0.04929	N	0.456544	T	0.01029	0.0034	.	.	.	0.09310	N	1	P	0.42735	0.788	B	0.37144	0.242	T	0.14309	-1.0477	9	0.51188	T	0.08	.	3.9086	0.09193	0.269:0.2885:0.0:0.4425	.	55	O95968	SG1D1_HUMAN	V	55	ENSP00000303070:A55V	ENSP00000303070:A55V	A	+	2	0	SCGB1D1	61716212	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.404000	0.02494	-1.026000	0.03330	-0.857000	0.03018	GCT	C|0.982;T|0.018	0.018	strong		0.423	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552		T	61959636	C	T	61959636	3	4	22	1	0	0	0	0	1	0	0	0	13896	797	28	2	170	2	SCGB1D1	11	61959636	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51196	61959636	73046880	6222	11330										
SCGB1D2	10647	hgsc.bcm.edu	37	chr11	62010863	62010863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaaatttgatgcccctcCggaagctgttgcagccaagt	10	12	0	1	rs2232950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62010863C>T	ENST00000244926.3	+	2	256	c.158C>T	c.(157-159)cCg>cTg	p.P53L	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	53			P -> L (in dbSNP:rs2232950).			extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						GATGCCCCTCCGGAAGCTGTT	0.473													C|||	2359	0.471046	0.2322	0.4251	5008	,	,		20799	0.7927		0.337	False		,,,				2504	0.6329				p.P53L		Atlas-SNP	.											.	SCGB1D2	11	.	0			c.C158T						PASS	.	C	LEU/PRO	1039,3365	382.1+/-324.3	123,793,1286	136	126	130		158	-4.9	0	11	dbSNP_98	130	2813,5785	445.9+/-361.1	449,1915,1935	yes	missense	SCGB1D2	NM_006551.3	98	572,2708,3221	TT,TC,CC		32.7169,23.5922,29.6262	possibly-damaging	53/91	62010863	3852,9150	2202	4299	6501	SO:0001583	missense	10647	exon2			CCCCTCCGGAAGC	AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"Secretoglobins"	18396	protein-coding gene	gene with protein product	"prostatein-like lipophilin B", "lipophilin B (uteroglobin family member), prostatein-like"	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.158C>T	11.37:g.62010863C>T	ENSP00000244926:p.Pro53Leu	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	197	112	0.568528	NM_006551	Q2M3N9	Missense_Mutation	SNP	ENST00000244926.3	37	CCDS8017.1	1008	0.46153846153846156	129	0.2621951219512195	161	0.4447513812154696	458	0.8006993006993007	260	0.34300791556728233	C	7.537	0.659889	0.14645	0.235922	0.327169	ENSG00000124935	ENST00000244926	T	0.16073	2.37	2.44	-4.87	0.03123	.	3.173700	0.01291	N	0.010028	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P	0.47545	0.897	B	0.39465	0.3	T	0.42599	-0.9442	8	0.27785	T	0.31	.	5.5062	0.16856	0.66:0.2146:0.0:0.1254	rs2232950;rs3855295;rs17542874;rs58183460;rs2232950	53	O95969	SG1D2_HUMAN	L	53	ENSP00000244926:P53L	ENSP00000244926:P53L	P	+	2	0	SCGB1D2	61767439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.574000	0.00061	-1.209000	0.02631	0.313000	0.20887	CCG	C|0.614;N|0.000	.	strong		0.473	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551		T	62010863	C	T	62010863	3	4	22	1	0	0	0	0	1	0	0	0	13897	652	23	1	164	1	SCGB1D2	11	62010863	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51227	62010863	72995653	6223	11331										
AHNAK	79026	hgsc.bcm.edu	37	chr11	62291912	62291912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggccctttatatccaaaCtgggagctttaatgtcacct	8	11	1	0	rs115362908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62291912C>T	ENST00000378024.4	-	5	10251	c.9977G>A	c.(9976-9978)aGt>aAt	p.S3326N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3326					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATATCCAAACTGGGAGCTTT	0.413													C|||	16	0.00319489	0.0098	0.0043	5008	,	,		19033	0.0		0.0	False		,,,				2504	0.0				p.S3326N		Atlas-SNP	.											.	AHNAK	532	.	0			c.G9977A						PASS	.	C	ASN/SER,	53,4351	52.3+/-87.9	3,47,2152	58	53	55		9977,	1.6	0.1	11	dbSNP_132	55	1,8597	1.2+/-3.3	0,1,4298	yes	missense,intron	AHNAK	NM_001620.1,NM_024060.2	46,	3,48,6450	TT,TC,CC		0.0116,1.2035,0.4153	benign,	3326/5891,	62291912	54,12948	2202	4299	6501	SO:0001583	missense	79026	exon5			TCCAAACTGGGAG	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9977G>A	11.37:g.62291912C>T	ENSP00000367263:p.Ser3326Asn	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	76	45	0.592105	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	C	1.856	-0.463832	0.04476	0.012035	1.16E-4	ENSG00000124942	ENST00000378024	T	0.00672	5.89	4.07	1.61	0.23674	.	.	.	.	.	T	0.00608	0.0020	L	0.28556	0.865	0.09310	N	1	B	0.25719	0.132	B	0.35278	0.199	T	0.48747	-0.9008	9	0.20519	T	0.43	.	6.9065	0.24311	0.0:0.2034:0.0:0.7966	.	3326	Q09666	AHNK_HUMAN	N	3326	ENSP00000367263:S3326N	ENSP00000367263:S3326N	S	-	2	0	AHNAK	62048488	0.000000	0.05858	0.067000	0.19924	0.419000	0.31324	0.794000	0.26958	0.089000	0.17243	0.305000	0.20034	AGT	C|0.996;T|0.004	0.004	strong		0.413	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62291912	C	T	62291912	3	4	22	1	0	0	0	0	1	0	0	0	414	565	20	2	7815	2	AHNAK	11	62291912	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	281049	62291912	72714604	6224	11332										
AHNAK	79026	hgsc.bcm.edu	37	chr11	62295149	62295149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgctgaacttgggcattTtcatcttaggcatcttcagg	10	9	4	1	rs61524789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62295149T>G	ENST00000378024.4	-	5	7014	c.6740A>C	c.(6739-6741)aAa>aCa	p.K2247T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2247			K -> T (in dbSNP:rs61524789).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGCATTTTCATCTTAGG	0.522													T|||	148	0.0295527	0.1051	0.0101	5008	,	,		20293	0.0		0.002	False		,,,				2504	0.0				p.K2247T		Atlas-SNP	.											.	AHNAK	532	.	0			c.A6740C						PASS	.	T	THR/LYS,	378,4026	192.6+/-218.0	16,346,1840	305	305	305		6740,	3.4	1	11	dbSNP_129	305	3,8595	2.2+/-6.3	0,3,4296	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	78,	16,349,6136	GG,GT,TT		0.0349,8.5831,2.9303	probably-damaging,	2247/5891,	62295149	381,12621	2202	4299	6501	SO:0001583	missense	79026	exon5			GGCATTTTCATCT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6740A>C	11.37:g.62295149T>G	ENSP00000367263:p.Lys2247Thr	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	274	131	0.478102	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	73	0.033424908424908424	68	0.13821138211382114	3	0.008287292817679558	0	0.0	2	0.002638522427440633	T	16.14	3.038892	0.55003	0.085831	3.49E-4	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.12147	2.71	3.38	3.38	0.38709	.	0.000000	0.39083	U	0.001465	T	0.00440	0.0014	H	0.95470	3.675	0.44660	D	0.997647	D	0.69078	0.997	D	0.77557	0.99	T	0.01743	-1.1283	10	0.62326	D	0.03	.	12.0108	0.53286	0.0:0.0:0.0:1.0	rs61524789	2247	Q09666	AHNK_HUMAN	T	336;2247	ENSP00000367263:K2247T	ENSP00000244934:K336T	K	-	2	0	AHNAK	62051725	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	5.886000	0.69743	1.546000	0.49388	0.242000	0.17961	AAA	T|0.965;G|0.035	0.035	strong		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62295149	T	G	62295149	3	3	22	1	0	0	0	0	1	0	0	0	414	1841	64	5	11052	5	AHNAK	11	62295149	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3237	62295149	72711367	6225	11333										
GANAB	23193	hgsc.bcm.edu	37	chr11	62396263	62396263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgacaggaatgccttcccGatgggcctgatataagaggg	13	9	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62396263G>A	ENST00000356638.3	-	17	2174	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	GANAB_ENST00000540933.1_Missense_Mutation_p.R623W|GANAB_ENST00000534779.1_Missense_Mutation_p.R628W|GANAB_ENST00000346178.4_Missense_Mutation_p.R742W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	720					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ATGCCTTCCCGATGGGCCTGA	0.527																																					p.R742W	Melanoma(23;1005 1074 15747 18937)	Atlas-SNP	.											GANAB_ENST00000346178,NS,carcinoma,+1,3	GANAB	110	3	0			c.C2224T						scavenged	.						157	143	148					11																	62396263		2202	4299	6501	SO:0001583	missense	23193	exon18			CTTCCCGATGGGC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2158C>T	11.37:g.62396263G>A	ENSP00000349053:p.Arg720Trp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	163	3	0.0184049	NM_198335	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386672	0.61956	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.1	3.16	0.36331	Glycoside hydrolase, superfamily (1);	0.442370	0.23183	N	0.050981	D	0.94624	0.8267	M	0.85299	2.745	0.33291	D	0.563592	D;D;D;D	0.64830	0.978;0.978;0.994;0.986	P;P;P;P	0.55303	0.773;0.773;0.773;0.663	D	0.95989	0.8984	10	0.62326	D	0.03	-1.6549	12.3479	0.55132	0.0:0.0:0.697:0.303	.	606;628;720;742	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	742;720;628;623	ENSP00000340466:R742W;ENSP00000349053:R720W;ENSP00000435306:R628W;ENSP00000442962:R623W	ENSP00000340466:R742W	R	-	1	2	GANAB	62152839	0.557000	0.26546	0.323000	0.25347	0.757000	0.42996	0.856000	0.27818	0.794000	0.33899	0.561000	0.74099	CGG	.	.	none		0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		A	62396263	G	A	62396263	3	1	22	1	0	0	0	0	1	0	0	0	6233	1057	37	1	708	1	GANAB	11	62396263	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101114	62396263	72610253	6226	11334										
INTS5	80789	hgsc.bcm.edu	37	chr11	62415285	62415285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgggtggctttaagccaCggccgatgactccagcatgg	13	11	0	1	rs149821915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62415285C>T	ENST00000330574.2	-	2	2319	c.2267G>A	c.(2266-2268)cGt>cAt	p.R756H	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	756					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTTTAAGCCACGGCCGATGAC	0.557																																					p.R756H		Atlas-SNP	.											.	INTS5	81	.	0			c.G2267A						PASS	.	C	HIS/ARG	6,4398	11.4+/-27.6	0,6,2196	51	57	55		2267	3.5	1	11	dbSNP_134	55	0,8598		0,0,4299	yes	missense	INTS5	NM_030628.1	29	0,6,6495	TT,TC,CC		0.0,0.1362,0.0461	benign	756/1020	62415285	6,12996	2202	4299	6501	SO:0001583	missense	80789	exon2			AAGCCACGGCCGA	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2267G>A	11.37:g.62415285C>T	ENSP00000327889:p.Arg756His	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	143	75	0.524476	NM_030628	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	7.215	0.596297	0.13875	0.001362	0.0	ENSG00000185085	ENST00000330574	.	.	.	5.43	3.53	0.40419	.	0.200939	0.45867	D	0.000336	T	0.29126	0.0724	L	0.28115	0.83	0.30938	N	0.726113	B	0.10296	0.003	B	0.04013	0.001	T	0.14282	-1.0478	9	0.25106	T	0.35	.	6.0709	0.19889	0.0:0.6759:0.1555:0.1686	.	756	Q6P9B9	INT5_HUMAN	H	756	.	ENSP00000327889:R756H	R	-	2	0	INTS5	62171861	0.146000	0.22672	1.000000	0.80357	0.864000	0.49448	0.847000	0.27696	1.530000	0.49136	-0.145000	0.13849	CGT	C|1.000;T|0.000	0.000	strong		0.557	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		T	62415285	C	T	62415285	3	4	22	1	0	0	0	0	1	0	0	0	7781	536	19	1	796	1	INTS5	11	62415285	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19022	62415285	72591231	6227	11335										
ZBTB3	79842	hgsc.bcm.edu	37	chr11	62519565	62519565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcagctcatgctcccttaGatgttagtttttggggccaa	9	10	2	1	rs544641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62519565G>C	ENST00000394807.3	-	2	1847	c.1722C>G	c.(1720-1722)atC>atG	p.I574M		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	574			I -> M (in dbSNP:rs544641).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGCTCCCTTAGATGTTAGTTT	0.527													G|||	565	0.112819	0.2504	0.0303	5008	,	,		17043	0.1518		0.0189	False		,,,				2504	0.0419				p.I574M		Atlas-SNP	.											.	ZBTB3	47	.	0			c.C1722G						PASS	.	G	MET/ILE	909,3495	350.8+/-311.0	106,697,1399	74	68	70		1722	3.2	0	11	dbSNP_83	70	195,8403	85.8+/-148.2	1,193,4105	yes	missense	ZBTB3	NM_024784.3	10	107,890,5504	CC,CG,GG		2.268,20.6403,8.491	benign	574/575	62519565	1104,11898	2202	4299	6501	SO:0001583	missense	79842	exon2			CCCTTAGATGTTA	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1722C>G	11.37:g.62519565G>C	ENSP00000378286:p.Ile574Met	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_024784		Missense_Mutation	SNP	ENST00000394807.3	37	CCDS8034.1	224|224	0.10256410256410256|0.10256410256410256	119|119	0.241869918699187|0.241869918699187	10|10	0.027624309392265192|0.027624309392265192	78|78	0.13636363636363635|0.13636363636363635	17|17	0.022427440633245383|0.022427440633245383	G|G	10.98|10.98	1.505033|1.505033	0.26949|0.26949	0.206403|0.206403	0.02268|0.02268	ENSG00000185670|ENSG00000185670	ENST00000394807|ENST00000530112	T|.	0.14266|.	2.52|.	4.15|4.15	3.24|3.24	0.37175|0.37175	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B|.	0.25169|.	0.119|.	B|.	0.21917|.	0.037|.	T|T	0.33854|0.33854	-0.9852|-0.9852	8|4	0.51188|.	T|.	0.08|.	.|.	7.9669|7.9669	0.30104|0.30104	0.117:0.0:0.883:0.0|0.117:0.0:0.883:0.0	rs544641;rs3881260;rs17652170;rs544641|rs544641;rs3881260;rs17652170;rs544641	574|.	Q9H5J0|.	ZBTB3_HUMAN|.	M|V	574|3	ENSP00000378286:I574M|.	ENSP00000378286:I574M|.	I|L	-|-	3|1	3|2	ZBTB3|ZBTB3	62276141|62276141	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.858000|0.858000	0.48976|0.48976	0.116000|0.116000	0.15561|0.15561	0.874000|0.874000	0.35823|0.35823	0.561000|0.561000	0.74099|0.74099	ATC|CTA	G|0.908;C|0.092	0.092	strong		0.527	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		C	62519565	G	C	62519565	3	2	22	1	0	0	0	0	1	0	0	0	17531	932	33	4	6	4	ZBTB3	11	62519565	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	104280	62519565	72486951	6228	11336										
TMEM223	79064	hgsc.bcm.edu	37	chr11	62559301	62559301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaagcccagaagacgcCctggcccgcgcagaacagcc	12	16	0	3	rs2956139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62559301C>T	ENST00000307366.7	-	1	192	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_Missense_Mutation_p.G56S|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	56						integral component of membrane (GO:0016021)											CAGAAGACGCCCTGGCCCGCG	0.672													C|||	121	0.0241613	0.0855	0.0086	5008	,	,		14072	0.0		0.002	False		,,,				2504	0.0				p.G56S		Atlas-SNP	.											.	TMEM223	22	.	0			c.G166A						PASS	.	C	SER/GLY	221,3653		5,211,1721	17	26	23		166	5	1	11	dbSNP_101	23	2,8218		0,2,4108	yes	missense	TMEM223	NM_001080501.2	56	5,213,5829	TT,TC,CC		0.0243,5.7047,1.8439	benign	56/203	62559301	223,11871	1937	4110	6047	SO:0001583	missense	79064	exon1			AGACGCCCTGGCC		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.166G>A	11.37:g.62559301C>T	ENSP00000303987:p.Gly56Ser	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	128	58	0.453125	NM_001080501	Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	ENST00000307366.7	37	CCDS44628.1	57|57	0.0260989010989011|0.0260989010989011	53|53	0.10772357723577236|0.10772357723577236	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	C|C	21.4|21.4	4.141694|4.141694	0.77775|0.77775	0.057047|0.057047	2.43E-4|2.43E-4	ENSG00000168569|ENSG00000168569	ENST00000528367|ENST00000525631;ENST00000307366	.|T;T	.|0.41758	.|0.99;0.99	5.94|5.94	5.02|5.02	0.67125|0.67125	.|.	0.275955|0.275955	0.35407|0.35407	N|N	0.003221|0.003221	T|T	0.00608|0.00608	0.0020|0.0020	L|L	0.34521|0.34521	1.04|1.04	0.35563|0.35563	D|D	0.804871|0.804871	.|B	.|0.30281	.|0.275	.|B	.|0.28916	.|0.096	T|T	0.09952|0.09952	-1.0651|-1.0651	6|9	.|.	.|.	.|.	-15.5835|-15.5835	13.3061|13.3061	0.60352|0.60352	0.0:0.9227:0.0:0.0773|0.0:0.9227:0.0:0.0773	rs2956139|rs2956139	.|56	.|A0PJW6	.|TM223_HUMAN	E|S	55|56	.|ENSP00000436670:G56S;ENSP00000303987:G56S	.|.	G|G	-|-	2|1	0|0	TMEM223|TMEM223	62315877|62315877	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	1.735000|1.735000	0.38176|0.38176	1.499000|1.499000	0.48617|0.48617	0.561000|0.561000	0.74099|0.74099	GGG|GGC	C|0.973;T|0.027	0.027	strong		0.672	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			T	62559301	C	T	62559301	3	4	22	1	0	0	0	0	1	0	0	0	16143	623	22	2	450	2	TMEM223	11	62559301	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39736	62559301	72447215	6229	11337										
SLC3A2	6520	hgsc.bcm.edu	37	chr11	62648748	62648748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcacccgctgggcactgCtgctgctcttctggctcggc	12	16	2	0	rs73487878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62648748C>T	ENST00000377890.2	+	4	724	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	SLC3A2_ENST00000377889.2_Silent_p.L124L|SLC3A2_ENST00000377891.2_Silent_p.L187L|SLC3A2_ENST00000377892.1_Silent_p.L217L|SLC3A2_ENST00000535296.1_Silent_p.L155L|SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000338663.7_Silent_p.L85L	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	186					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTGGGCACTGCTGCTGCTCTT	0.687											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	116	0.0231629	0.0809	0.0101	5008	,	,		13125	0.0		0.002	False		,,,				2504	0.0				p.L187L		Atlas-SNP	.											.	SLC3A2	55	.	0			c.C559T						PASS	.	C	,,,	239,4153		11,217,1968	15	16	16		559,370,253,556	5	1	11	dbSNP_130	16	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC3A2	NM_001012662.2,NM_001012664.2,NM_001013251.2,NM_002394.5	,,,	11,218,6257	TT,TC,CC		0.0117,5.4417,1.8501	,,,	187/632,124/569,85/530,186/631	62648748	240,12732	2196	4290	6486	SO:0001819	synonymous_variant	6520	exon4			GCACTGCTGCTGC		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.556C>T	11.37:g.62648748C>T		Somatic	57	0	0	1062	WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_001012662	Q13543	Silent	SNP	ENST00000377890.2	37	CCDS8039.2																																																																																			C|0.975;T|0.025	0.025	strong		0.687	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		T	62648748	C	T	62648748	2	4	22	1	0	0	0	0	0	0	0	1	14627	796	28	2		2	SLC3A2	11	62648748	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89447	62648748	72357768	6230	11338										
CHRM1	1128	hgsc.bcm.edu	37	chr11	62677529	62677529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtcttccgcttggccagCtgctcctttccacggggctt	11	14	1	0	rs2067478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62677529C>T	ENST00000306960.3	-	2	1585	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	348					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	GCTTGGCCAGCTGCTCCTTTC	0.612													C|||	293	0.0585064	0.1286	0.0231	5008	,	,		19135	0.0169		0.0258	False		,,,				2504	0.0654				p.Q348Q		Atlas-SNP	.											.	CHRM1	29	.	0			c.G1044A						PASS	.	C		496,3906	230.7+/-244.8	25,446,1730	50	49	49		1044	1.5	1	11	dbSNP_96	49	307,8289	110.8+/-171.2	7,293,3998	no	coding-synonymous	CHRM1	NM_000738.2		32,739,5728	TT,TC,CC		3.5714,11.2676,6.1779		348/461	62677529	803,12195	2201	4298	6499	SO:0001819	synonymous_variant	1128	exon2			GGCCAGCTGCTCC	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1044G>A	11.37:g.62677529C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_000738	Q96RH1	Silent	SNP	ENST00000306960.3	37	CCDS8040.1																																																																																			C|0.938;T|0.062	0.062	strong		0.612	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		T	62677529	C	T	62677529	2	4	22	1	0	0	0	0	0	0	0	1	3376	796	28	2		2	CHRM1	11	62677529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28781	62677529	72328987	6231	11339										
SLC22A24	283238	hgsc.bcm.edu	37	chr11	62886706	62886706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagaaccctgccaagaagCgcagtatgcagtaaacaagg	12	9	0	2	rs116063135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62886706C>T	ENST00000417740.1	-	3	1049	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC22A24_ENST00000326192.5_Missense_Mutation_p.R203H	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	203					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGCCAAGAAGCGCAGTATGCA	0.438													C|||	58	0.0115815	0.0439	0.0	5008	,	,		21113	0.0		0.0	False		,,,				2504	0.0				p.R203H		Atlas-SNP	.											.	SLC22A24	31	.	0			c.G608A						PASS	.	C	HIS/ARG	59,1325		0,59,633	136	120	125		608	1.8	0	11	dbSNP_132	125	1,3181		0,1,1590	yes	missense	SLC22A24	NM_001136506.2	29	0,60,2223	TT,TC,CC		0.0314,4.263,1.3141	probably-damaging	203/553	62886706	60,4506	692	1591	2283	SO:0001583	missense	283238	exon3			AAGAAGCGCAGTA		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.608G>A	11.37:g.62886706C>T	ENSP00000396586:p.Arg203His	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	162	84	0.518519	NM_001136506		Missense_Mutation	SNP	ENST00000417740.1	37		23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	C	19.33	3.807587	0.70797	0.04263	3.14E-4	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	D;T	0.90197	-2.63;-0.51	3.77	1.79	0.24919	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.83353	0.5236	H	0.96365	3.81	0.09310	N	1	D;D	0.76494	0.999;0.995	D;P	0.66602	0.945;0.843	T	0.80094	-0.1526	10	0.87932	D	0	.	8.3277	0.32167	0.0:0.7891:0.0:0.2109	.	203;203	Q8N4F4;C9JC66	S22AO_HUMAN;.	H	203	ENSP00000396586:R203H;ENSP00000321549:R203H	ENSP00000321549:R203H	R	-	2	0	SLC22A24	62643282	0.007000	0.16637	0.002000	0.10522	0.505000	0.33919	1.812000	0.38952	0.801000	0.34066	0.501000	0.49751	CGC	C|0.988;T|0.012	0.012	strong		0.438	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		T	62886706	C	T	62886706	3	4	22	1	0	0	0	0	1	0	0	0	14453	768	27	1	1077	1	SLC22A24	11	62886706	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	209177	62886706	72119810	6232	11340										
SLC22A25	387601	hgsc.bcm.edu	37	chr11	62931547	62931547	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattccagtagctcttccccTtggagtaaaaacagcaacag	8	11	1	0	rs114205803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62931547T>C	ENST00000306494.6	-	9	1394		c.e9-2		SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCTCTTCCCCTTGGAGTAAAA	0.403													T|||	18	0.00359425	0.0136	0.0	5008	,	,		20838	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	SLC22A25	87	.	0			c.1395-2A>G						PASS	.	T		48,4354	35.2+/-66.4	1,46,2154	102	113	110			3.9	0.7	11	dbSNP_132	110	0,8596		0,0,4298	yes	splice-3	SLC22A25	NM_199352.3		1,46,6452	CC,CT,TT		0.0,1.0904,0.3693			62931547	48,12950	2201	4298	6499	SO:0001630	splice_region_variant	387601	exon10			TTCCCCTTGGAGT	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1395-2A>G	11.37:g.62931547T>C		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	230	91	0.395652	NM_199352		Splice_Site	SNP	ENST00000306494.6	37	CCDS31592.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	T	10.76	1.441510	0.25900	0.010904	0.0	ENSG00000196600	ENST00000306494	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2959	0.37815	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A25	62688123	0.077000	0.21312	0.693000	0.30195	0.010000	0.07245	1.743000	0.38258	1.768000	0.52137	0.477000	0.44152	.	T|0.996;C|0.004	0.004	strong		0.403	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	Intron	C	62931547	T	C	62931547	5	2	22	1	0	0	0	0	0	0	1	0	14454	1623	56	3	254	3	SLC22A25	11	62931547	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44841	62931547	72074969	6233	11341										
SLC22A25	387601	hgsc.bcm.edu	37	chr11	62996038	62996038	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcgcataccagatcccacTggaagaaaaggaaaccctca	7	12	1	2	rs1783657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62996038T>C	ENST00000306494.6	-	2	402		c.e2-2		SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGATCCCACTGGAAGAAAAG	0.413													T|||	360	0.071885	0.2572	0.0173	5008	,	,		19271	0.0		0.004	False		,,,				2504	0.0041				.		Atlas-SNP	.											.	SLC22A25	87	.	0			c.403-2A>G						PASS	.	T		828,3574	329.3+/-301.0	75,678,1448	92	84	86			3.5	0.9	11	dbSNP_89	86	51,8545	31.2+/-83.2	0,51,4247	yes	splice-3	SLC22A25	NM_199352.3		75,729,5695	CC,CT,TT		0.5933,18.8096,6.7626			62996038	879,12119	2201	4298	6499	SO:0001630	splice_region_variant	387601	exon3			TCCCACTGGAAGA	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.403-2A>G	11.37:g.62996038T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_199352		Splice_Site	SNP	ENST00000306494.6	37	CCDS31592.1	118	0.05402930402930403	108	0.21951219512195122	6	0.016574585635359115	0	0.0	4	0.005277044854881266	T	11.87	1.766935	0.31320	0.188096	0.005933	ENSG00000196600	ENST00000306494;ENST00000451441	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.356	0.43964	0.0:0.0:0.0:1.0	rs1783657;rs57074306;rs1783657	.	.	.	.	-1	.	.	.	-	.	.	SLC22A25	62752614	1.000000	0.71417	0.944000	0.38274	0.580000	0.36256	4.657000	0.61490	1.388000	0.46506	0.391000	0.25812	.	T|0.940;C|0.060	0.060	strong		0.413	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	Intron	C	62996038	T	C	62996038	5	2	22	1	0	0	0	0	0	0	1	0	14454	1594	55	3	1274	3	SLC22A25	11	62996038	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	64491	62996038	72010478	6234	11342										
SLC22A25	387601	hgsc.bcm.edu	37	chr11	62996774	62996775	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcatatacccagccatccINSacacagggctctgtatctgg					rs112260121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:62996774_62996775insA	ENST00000306494.6	-	1	349_350	c.350_351insT	c.(349-351)gtgfs	p.V117fs	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCCAGCCATCCACACAGGGCTC	0.51													A|A|AA|insertion	42	0.00838658	0.0318	0.0	5008	,	,		19685	0.0		0.0	False		,,,				2504	0.0				p.V117fs		Pindel,Atlas-Indel	.											.	SLC22A25	87	.	0			c.351_352insT						PASS	.			104,4160		2,100,2030						1.9	1		dbSNP_132	130	4,8250		0,4,4123	yes	frameshift	SLC22A25	NM_199352.3		2,104,6153	A1A1,A1R,RR		0.0485,2.439,0.8628				108,12410				SO:0001589	frameshift_variant	387601	exon1			.	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.351dupT	11.37:g.62996775_62996775dupA	ENSP00000307443:p.Val117fs	Somatic	235	.	.		WXS	Illumina HiSeq	Phase_I	200	57	0.285	NM_199352		Frame_Shift_Ins	INS	ENST00000306494.6	37	CCDS31592.1																																																																																			-|0.990;A|0.010	0.010	strong		0.51	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		A	62996775	-	A	62996774	7	5	22	1	0	1	1	0	0	0	0	0	14454	581	21	0	1328	0	SLC22A25	11	62996774	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	736	62996774	72009742	6235	11343										
HRASLS5	117245	hgsc.bcm.edu	37	chr11	63256441	63256441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctccaagctaactacagCcttctccctaaatgattttg	6	12	2	1	rs940611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:63256441C>G	ENST00000301790.4	-	3	436	c.277G>C	c.(277-279)Gct>Cct	p.A93P	HRASLS5_ENST00000540857.1_Missense_Mutation_p.A83P|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A93P			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	93			A -> P (in dbSNP:rs940611).				transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTAACTACAGCCTTCTCCCTA	0.373													G|||	1156	0.230831	0.652	0.0893	5008	,	,		16993	0.1478		0.0487	False		,,,				2504	0.0348				p.A93P		Atlas-SNP	.											.	HRASLS5	28	.	0			c.G277C						PASS	.	G	PRO/ALA,PRO/ALA,PRO/ALA	2309,2093	565.1+/-381.6	603,1103,495	158	155	156		277,247,277	-1	0	11	dbSNP_86	156	402,8194	801.0+/-407.4	12,378,3908	yes	missense,missense,missense	HRASLS5	NM_001146728.1,NM_001146729.1,NM_054108.3	27,27,27	615,1481,4403	GG,GC,CC		4.6766,47.5466,20.8571	benign,benign,benign	93/254,83/270,93/280	63256441	2711,10287	2201	4298	6499	SO:0001583	missense	117245	exon3			CTACAGCCTTCTC	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.277G>C	11.37:g.63256441C>G	ENSP00000301790:p.Ala93Pro	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	175	89	0.508571	NM_001146728	B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	CCDS8044.1	450	0.20604395604395603	300	0.6097560975609756	30	0.08287292817679558	85	0.1486013986013986	35	0.04617414248021108	G	0.008	-1.880860	0.00532	0.524534	0.046766	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.25250	1.81;2.31;1.85	3.25	-1.03	0.10102	.	3.853830	0.00877	N	0.002097	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42207	-0.9465	9	0.02654	T	1	-5.2561	5.7094	0.17927	0.2081:0.486:0.3059:0.0	rs940611;rs52822334;rs60572363;rs940611	93;83;93	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	P	83;93;93	ENSP00000444809:A83P;ENSP00000443873:A93P;ENSP00000301790:A93P	ENSP00000301790:A93P	A	-	1	0	HRASLS5	63013017	0.005000	0.15991	0.017000	0.16124	0.001000	0.01503	-0.444000	0.06854	-0.480000	0.06803	-1.255000	0.01485	GCT	C|0.786;G|0.214	0.214	strong		0.373	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		G	63256441	C	G	63256441	3	3	22	1	0	0	0	0	1	0	0	0	7351	739	26	4	578	4	HRASLS5	11	63256441	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	259667	63256441	71750075	6236	11344										
FLRT1	28992	hgsc.bcm.edu	37	chr11	63884453	63884453	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctgctggccaaccagcgCatcgccgacgacaccttcag	9	17	1	0	rs3751120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:63884453C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.R238R|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CCAACCAGCGCATCGCCGACG	0.657													C|||	1768	0.353035	0.6014	0.1873	5008	,	,		19038	0.5377		0.0865	False		,,,				2504	0.2188				p.R238R		Atlas-SNP	.											.	FLRT1	46	.	0			c.C714T						PASS	.	C	,	2191,2211	546.4+/-377.0	556,1079,566	33	31	32		714,	2.5	1	11	dbSNP_107	32	616,7978	154.3+/-208.6	29,558,3710	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	585,1637,4276	TT,TC,CC		7.1678,49.7728,21.599	,	238/675,	63884453	2807,10189	2201	4297	6498	SO:0001627	intron_variant	23769	exon2			CCAGCGCATCGCC	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34257G>A	11.37:g.63884453C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_013280	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			C|0.702;T|0.298	0.298	strong		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		T	63884453	C	T	63884453	1	4	22	0	1	0	0	0	0	0	0	0	5938	697	25	2		2	FLRT1	11	63884453	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	628012	63884453	71122063	6237	11345										
FERMT3	83706	hgsc.bcm.edu	37	chr11	63988045	63988045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacgggcagtgggggcccGggcaaccacccccacggccc	15	19	0	0	rs3802932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:63988045G>A	ENST00000279227.5	+	12	1556	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	FERMT3_ENST00000345728.5_Silent_p.P483P	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	487	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTGGGGGCCCGGGCAACCACC	0.682													G|||	828	0.165335	0.1172	0.147	5008	,	,		15893	0.4762		0.0726	False		,,,				2504	0.0184				p.P487P		Atlas-SNP	.											URP2,NS,carcinoma,0,2	FERMT3	51	2	0			c.G1461A						scavenged	.	G	,	431,3951		29,373,1789	11	13	12		1449,1461	-8.6	0	11	dbSNP_107	12	480,8084		24,432,3826	no	coding-synonymous,coding-synonymous	FERMT3	NM_031471.5,NM_178443.2	,	53,805,5615	AA,AG,GG		5.6049,9.8357,7.0369	,	483/664,487/668	63988045	911,12035	2191	4282	6473	SO:0001819	synonymous_variant	83706	exon12			GGGCCCGGGCAAC	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1461G>A	11.37:g.63988045G>A		Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	80	46	0.575	NM_178443	Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	CCDS8060.1	432	0.1978021978021978	65	0.13211382113821138	45	0.12430939226519337	271	0.4737762237762238	51	0.06728232189973615	G	0.006	-2.020701	0.00418	0.098357	0.056049	ENSG00000149781	ENST00000545896	T	0.56611	0.45	4.31	-8.61	0.00885	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.25357	P	0.9888111	.	.	.	.	.	.	T	0.11767	-1.0574	5	0.38643	T	0.18	-6.5345	0.571	0.00695	0.3445:0.2066:0.2388:0.21	rs3802932	.	.	.	Q	46	ENSP00000440209:R46Q	ENSP00000440209:R46Q	R	+	2	0	FERMT3	63744621	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-1.539000	0.02202	-3.948000	0.00088	-2.961000	0.00082	CGG	G|0.808;A|0.192	0.192	strong		0.682	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		A	63988045	G	A	63988045	2	1	22	1	0	0	0	0	0	0	0	1	5819	1103	39	1		1	FERMT3	11	63988045	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	103592	63988045	71018471	6238	11346										
GPR137	572	hgsc.bcm.edu	37	chr11	64051853	64051853	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaacatgctctgggctgtGaggacaagatgttacgtagt	14	6	1	2	rs75052600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64051853G>A	ENST00000394532.3	-	0	258				BAD_ENST00000544785.1_5'Flank|BAD_ENST00000309032.3_Intron|GPR137_ENST00000313074.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.V5V|GPR137_ENST00000539851.1_5'Flank|BAD_ENST00000394531.3_Intron|GPR137_ENST00000377702.4_5'Flank|GPR137_ENST00000438980.2_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TCTGGGCTGTGAGGACAAGAT	0.647													G|||	95	0.0189696	0.0658	0.0101	5008	,	,		18548	0.0		0.001	False		,,,				2504	0.0				p.V5V		Atlas-SNP	.											.	GPR137	52	.	0			c.G15A						PASS	.	G	,,	193,4209	120.8+/-158.4	8,177,2016	59	64	62		15,,	0.8	0	11	dbSNP_131	62	3,8591	3.0+/-9.4	0,3,4294	no	coding-synonymous,utr-5,intron	BAD,GPR137	NM_001170726.1,NM_004322.3,NM_032989.2	,,	8,180,6310	AA,AG,GG		0.0349,4.3844,1.5082	,,	5/476,,	64051853	196,12800	2201	4297	6498	SO:0001623	5_prime_UTR_variant	56834	exon1			GGCTGTGAGGACA	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.-13C>T	11.37:g.64051853G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	48	26	0.541667	NM_001170726	O14803|Q6FH21	Silent	SNP	ENST00000394532.3	37	CCDS8065.1																																																																																			G|0.986;A|0.014	0.014	strong		0.647	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		A	64051853	G	A	64051853	1	1	22	0	1	0	0	0	0	0	0	0	6645	1277	45	2		2	GPR137	11	64051853	5'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63808	64051853	70954663	6239	11347										
KCNK4	50801	hgsc.bcm.edu	37	chr11	64066999	64066999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccccgagaaggctcagcCgccttccccgcccacggcct	10	22	1	1	rs953778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64066999C>T	ENST00000539216.1	+	6	1343	c.983C>T	c.(982-984)cCg>cTg	p.P328L	KCNK4_ENST00000422670.2_Missense_Mutation_p.P328L|KCNK4_ENST00000394525.2_Missense_Mutation_p.P328L|RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000538767.1_Silent_p.A212A|TEX40_ENST00000328404.6_5'Flank			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	328			P -> L (in dbSNP:rs953778). {ECO:0000269|Ref.2}.		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						AAGGCTCAGCCGCCTTCCCCG	0.721													C|||	1406	0.280751	0.2383	0.2939	5008	,	,		12588	0.5437		0.1561	False		,,,				2504	0.1861				p.P328L		Atlas-SNP	.											.	KCNK4	22	.	0			c.C983T						PASS	.	C	LEU/PRO	872,3476		82,708,1384	19	23	22		983	3.3	0.2	11	dbSNP_86	22	1220,7270		96,1028,3121	yes	missense	KCNK4	NM_033310.2	98	178,1736,4505	TT,TC,CC		14.3698,20.0552,16.2954	benign	328/394	64066999	2092,10746	2174	4245	6419	SO:0001583	missense	50801	exon7			CTCAGCCGCCTTC	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.983C>T	11.37:g.64066999C>T	ENSP00000444948:p.Pro328Leu	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	28	17	0.607143	NM_033310	B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	CCDS8067.1	632	0.2893772893772894	115	0.23373983739837398	104	0.287292817679558	300	0.5244755244755245	113	0.14907651715039577	C	10.37	1.330851	0.24167	0.200552	0.143698	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.14893	2.47;2.47;2.47	4.28	3.34	0.38264	.	1.739010	0.03339	N	0.194476	T	0.00012	0.0000	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	B;B	0.19445	0.036;0.003	B;B	0.14023	0.01;0.003	T	0.45175	-0.9279	9	0.62326	D	0.03	.	8.1533	0.31154	0.0:0.8877:0.0:0.1123	rs953778;rs3741401;rs953778	354;328	Q9NYG8-2;Q9NYG8	.;KCNK4_HUMAN	L	328;353;328;390;328	ENSP00000402797:P328L;ENSP00000378033:P328L;ENSP00000444948:P328L	ENSP00000378033:P328L	P	+	2	0	KCNK4	63823575	0.220000	0.23631	0.156000	0.22583	0.206000	0.24218	1.855000	0.39378	2.233000	0.73108	0.561000	0.74099	CCG	C|0.772;T|0.228	0.228	strong		0.721	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		T	64066999	C	T	64066999	3	4	22	1	0	0	0	0	1	0	0	0	8068	652	23	1	1005	1	KCNK4	11	64066999	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15146	64066999	70939517	6240	11348										
SLC22A12	116085	hgsc.bcm.edu	37	chr11	64367862	64367862	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggggctctgcgctcagccTtggccgtgctggggctgggc	19	12	2	0	rs7932775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64367862T>C	ENST00000377574.1	+	8	2056	c.1309T>C	c.(1309-1311)Ttg>Ctg	p.L437L	SLC22A12_ENST00000473690.1_Silent_p.L216L|SLC22A12_ENST00000336464.7_Silent_p.L403L|SLC22A12_ENST00000377567.2_Silent_p.L329L|SLC22A12_ENST00000377572.1_Silent_p.L329L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	437					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCGCTCAGCCTTGGCCGTGCT	0.647													C|||	1990	0.397364	0.674	0.255	5008	,	,		14174	0.5129		0.2018	False		,,,				2504	0.2065				p.L437L		Atlas-SNP	.											.	SLC22A12	68	.	0			c.T1309C						PASS	.	C	,	2545,1845		746,1053,396	14	17	16		1309,646	2.9	1	11	dbSNP_116	16	1592,6994		173,1246,2874	no	coding-synonymous,coding-synonymous	SLC22A12	NM_144585.2,NM_153378.1	,	919,2299,3270	CC,CT,TT		18.5418,42.0273,31.8819	,	437/554,216/333	64367862	4137,8839	2195	4293	6488	SO:0001819	synonymous_variant	116085	exon8			TCAGCCTTGGCCG	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1309T>C	11.37:g.64367862T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_144585	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																			T|0.629;C|0.371	0.371	strong		0.647	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		C	64367862	T	C	64367862	2	2	22	1	0	0	0	0	0	0	0	1	14443	1606	56	3		3	SLC22A12	11	64367862	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	300863	64367862	70638654	6241	11349										
PYGM	5837	hgsc.bcm.edu	37	chr11	64520569	64520569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaatgacctctgccagcccGgggttacacagaaccagcca	10	15	1	2	rs11231865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64520569G>A	ENST00000164139.3	-	12	1892	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.P410P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	498					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCAGCCCGGGGTTACACA	0.572													G|||	177	0.0353435	0.1293	0.0058	5008	,	,		18308	0.0		0.002	False		,,,				2504	0.0				p.P498P		Atlas-SNP	.											.	PYGM	77	.	0			c.C1494T						PASS	.	G	,	539,3863	245.3+/-254.3	24,491,1686	202	231	221		1230,1494	-11.6	0.1	11	dbSNP_120	221	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous	PYGM	NM_001164716.1,NM_005609.2	,	24,492,5982	AA,AG,GG		0.0116,12.2444,4.1551	,	410/755,498/843	64520569	540,12456	2201	4297	6498	SO:0001819	synonymous_variant	5837	exon12			CAGCCCGGGGTTA		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1494C>T	11.37:g.64520569G>A		Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	221	121	0.547511	NM_005609	A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	CCDS8079.1																																																																																			G|0.963;A|0.037	0.037	strong		0.572	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		A	64520569	G	A	64520569	2	1	22	1	0	0	0	0	0	0	0	1	12862	1103	39	1		1	PYGM	11	64520569	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152707	64520569	70485947	6242	11350										
CDC42BPG	55561	hgsc.bcm.edu	37	chr11	64594212	64594212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcaacgcctcggagaagcTgtggggccgctgtgggccgg	18	13	0	1	rs61744174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64594212T>G	ENST00000342711.5	-	35	4443	c.4444A>C	c.(4444-4446)Agc>Cgc	p.S1482R		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCGGAGAAGCTGTGGGGCCGC	0.697													T|||	89	0.0177716	0.062	0.0072	5008	,	,		13371	0.0		0.002	False		,,,				2504	0.0				p.S1482R		Atlas-SNP	.											.	CDC42BPG	101	.	0			c.A4444C						PASS	.	T	ARG/SER	188,4154		6,176,1989	10	14	12		4444	4.9	1	11	dbSNP_129	12	0,8458		0,0,4229	no	missense	CDC42BPG	NM_017525.2	110	6,176,6218	GG,GT,TT		0.0,4.3298,1.4688	probably-damaging	1482/1552	64594212	188,12612	2171	4229	6400	SO:0001583	missense	55561	exon35			AGAAGCTGTGGGG	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4444A>C	11.37:g.64594212T>G	ENSP00000345133:p.Ser1482Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	40	13	0.325	NM_017525		Missense_Mutation	SNP	ENST00000342711.5	37	CCDS31601.1	29	0.013278388278388278	25	0.0508130081300813	4	0.011049723756906077	0	0.0	0	0.0	t	17.89	3.500160	0.64298	0.043298	0.0	ENSG00000171219	ENST00000342711	T	0.69435	-0.4	4.92	4.92	0.64577	.	0.000000	0.50627	D	0.000114	T	0.25827	0.0629	M	0.71581	2.175	0.26185	N	0.979679	P	0.40476	0.718	B	0.41860	0.368	T	0.45264	-0.9273	10	0.27785	T	0.31	.	11.2564	0.49056	0.0:0.0:0.0:1.0	.	1482	Q6DT37	MRCKG_HUMAN	R	1482	ENSP00000345133:S1482R	ENSP00000345133:S1482R	S	-	1	0	CDC42BPG	64350788	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.830000	0.39131	1.985000	0.57927	0.478000	0.44815	AGC	T|0.987;G|0.013	0.013	strong		0.697	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		G	64594212	T	G	64594212	3	3	22	1	0	0	0	0	1	0	0	0	3074	1580	55	5	223	5	CDC42BPG	11	64594212	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73643	64594212	70412304	6243	11351										
ATG2A	23130	hgsc.bcm.edu	37	chr11	64665444	64665444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggctcgagtctcggggcGagctaggggaggggaggtca	21	8	2	0	rs61740228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64665444G>A	ENST00000377264.3	-	35	4973	c.4861C>T	c.(4861-4863)Cgc>Tgc	p.R1621C	ATG2A_ENST00000421419.2_Missense_Mutation_p.R1623C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1621					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTCTCGGGGCGAGCTAGGGGA	0.687													G|||	271	0.0541134	0.1891	0.0259	5008	,	,		14801	0.0		0.003	False		,,,				2504	0.0				p.R1621C		Atlas-SNP	.											.	ATG2A	133	.	0			c.C4861T						PASS	.	G	CYS/ARG	712,3680		63,586,1547	31	39	36		4861	2.5	0.4	11	dbSNP_129	36	4,8578		0,4,4287	yes	missense	ATG2A	NM_015104.2	180	63,590,5834	AA,AG,GG		0.0466,16.2113,5.5187	probably-damaging	1621/1939	64665444	716,12258	2196	4291	6487	SO:0001583	missense	23130	exon35			CGGGGCGAGCTAG		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4861C>T	11.37:g.64665444G>A	ENSP00000366475:p.Arg1621Cys	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	24	12	0.5	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	86|86	0.039377289377289376|0.039377289377289376	77|77	0.1565040650406504|0.1565040650406504	9|9	0.024861878453038673|0.024861878453038673	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.496|9.496	1.101947|1.101947	0.20632|0.20632	0.162113|0.162113	4.66E-4|4.66E-4	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.07327|.	3.2;3.2|.	4.38|4.38	2.5|2.5	0.30297|0.30297	.|.	1.153450|.	0.06390|.	N|.	0.716880|.	T|T	0.00178|0.00178	0.0005|0.0005	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.10359|0.10359	-1.0633|-1.0633	9|4	0.54805|.	T|.	0.06|.	.|.	6.7746|6.7746	0.23613|0.23613	0.2147:0.0:0.7853:0.0|0.2147:0.0:0.7853:0.0	.|.	1621;1623|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	C|L	1623;1621|1424	ENSP00000410522:R1623C;ENSP00000366475:R1621C|.	ENSP00000366475:R1621C|.	R|S	-|-	1|2	0|0	ATG2A|ATG2A	64422020|64422020	0.987000|0.987000	0.35691|0.35691	0.426000|0.426000	0.26672|0.26672	0.016000|0.016000	0.09150|0.09150	2.246000|2.246000	0.43142|0.43142	0.594000|0.594000	0.29761|0.29761	-0.258000|-0.258000	0.10820|0.10820	CGC|TCG	G|0.957;A|0.043	0.043	strong		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64665444	G	A	64665444	3	1	22	1	0	0	0	0	1	0	0	0	1093	1058	37	1	983	1	ATG2A	11	64665444	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71232	64665444	70341072	6244	11352										
ATG2A	23130	hgsc.bcm.edu	37	chr11	64675074	64675074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggaagcccgagggctggGcggcggggtcgggggtggga	26	8	0	0	rs61741398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64675074G>A	ENST00000377264.3	-	18	2682	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A857V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	857					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGAGGGCTGGGCGGCGGGGTC	0.627													G|||	108	0.0215655	0.0756	0.0086	5008	,	,		12877	0.0		0.002	False		,,,				2504	0.0				p.A857V		Atlas-SNP	.											.	ATG2A	133	.	0			c.C2570T						PASS	.	G	VAL/ALA	297,4069		13,271,1899	14	15	15		2570	3.3	0	11	dbSNP_129	15	0,8564		0,0,4282	yes	missense	ATG2A	NM_015104.2	64	13,271,6181	AA,AG,GG		0.0,6.8026,2.297	benign	857/1939	64675074	297,12633	2183	4282	6465	SO:0001583	missense	23130	exon18			GGCTGGGCGGCGG		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2570C>T	11.37:g.64675074G>A	ENSP00000366475:p.Ala857Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	118	47	0.398305	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	G	8.222	0.802766	0.16397	0.068026	0.0	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.45668	0.89;0.89	4.19	3.27	0.37495	.	0.651391	0.14546	N	0.312930	T	0.02767	0.0083	L	0.47716	1.5	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.01692	-1.1294	10	0.41790	T	0.15	.	7.2311	0.26043	0.1175:0.0:0.8825:0.0	.	857	Q2TAZ0	ATG2A_HUMAN	V	857	ENSP00000410522:A857V;ENSP00000366475:A857V	ENSP00000366475:A857V	A	-	2	0	ATG2A	64431650	0.021000	0.18746	0.009000	0.14445	0.008000	0.06430	1.467000	0.35321	2.350000	0.79820	0.655000	0.94253	GCC	G|0.984;A|0.016	0.016	strong		0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64675074	G	A	64675074	3	1	22	1	0	0	0	0	1	0	0	0	1093	1203	42	2	3342	2	ATG2A	11	64675074	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9630	64675074	70331442	6245	11353										
ATG2A	23130	hgsc.bcm.edu	37	chr11	64677270	64677270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgaagctgctcagcccgcaCggcctggcccgcccaggggt	14	18	1	0	rs61746812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64677270C>T	ENST00000377264.3	-	14	2102	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	ATG2A_ENST00000421419.2_Missense_Mutation_p.V664M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	664					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCAGCCCGCACGGCCTGGCCC	0.701													C|||	91	0.0181709	0.0635	0.0072	5008	,	,		14186	0.0		0.002	False		,,,				2504	0.0				p.V664M		Atlas-SNP	.											ATG2A,NS,carcinoma,0,1	ATG2A	133	1	0			c.G1990A						PASS	.	C	MET/VAL	252,4150		10,232,1959	24	28	26		1990	4.3	1	11	dbSNP_129	26	0,8590		0,0,4295	yes	missense	ATG2A	NM_015104.2	21	10,232,6254	TT,TC,CC		0.0,5.7247,1.9397	probably-damaging	664/1939	64677270	252,12740	2201	4295	6496	SO:0001583	missense	23130	exon14			CCCGCACGGCCTG		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1990G>A	11.37:g.64677270C>T	ENSP00000366475:p.Val664Met	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	56	32	0.571429	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	26|26	0.011904761904761904|0.011904761904761904	24|24	0.04878048780487805|0.04878048780487805	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	19.46|19.46	3.831305|3.831305	0.71258|0.71258	0.057247|0.057247	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.11712	.|2.75;2.75	4.28|4.28	4.28|4.28	0.50868|0.50868	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.02970|0.02970	0.0088|0.0088	L|L	0.55481|0.55481	1.735|1.735	0.45541|0.45541	D|D	0.99849|0.99849	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.00024|0.00024	-1.2328|-1.2328	5|10	.|0.72032	.|D	.|0.01	.|.	12.4406|12.4406	0.55623|0.55623	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|664	.|Q2TAZ0	.|ATG2A_HUMAN	H|M	465|664	.|ENSP00000410522:V664M;ENSP00000366475:V664M	.|ENSP00000366475:V664M	R|V	-|-	2|1	0|0	ATG2A|ATG2A	64433846|64433846	0.981000|0.981000	0.34729|0.34729	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	2.528000|2.528000	0.45624|0.45624	2.386000|2.386000	0.81285|0.81285	0.561000|0.561000	0.74099|0.74099	CGT|GTG	C|0.978;T|0.022	0.022	strong		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64677270	C	T	64677270	3	4	22	1	0	0	0	0	1	0	0	0	1093	536	19	1	3938	1	ATG2A	11	64677270	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2196	64677270	70329246	6246	11354										
ATG2A	23130	hgsc.bcm.edu	37	chr11	64681360	64681360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtgctccaccctcacgaCagtgtccaggaaggtcactt	10	13	2	1	rs12293826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64681360C>T	ENST00000377264.3	-	4	635	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	ATG2A_ENST00000421419.2_Missense_Mutation_p.V175I	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	175			V -> I (in dbSNP:rs12293826).		autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACCCTCACGACAGTGTCCAGG	0.602													C|||	258	0.0515176	0.18	0.0245	5008	,	,		19362	0.0		0.003	False		,,,				2504	0.0				p.V175I		Atlas-SNP	.											.	ATG2A	133	.	0			c.G523A						PASS	.	C	ILE/VAL	739,3663	301.5+/-286.9	74,591,1536	112	96	101		523	2.6	0.9	11	dbSNP_120	101	3,8591	2.2+/-6.3	0,3,4294	yes	missense	ATG2A	NM_015104.2	29	74,594,5830	TT,TC,CC		0.0349,16.7878,5.7094	benign	175/1939	64681360	742,12254	2201	4297	6498	SO:0001583	missense	23130	exon4			TCACGACAGTGTC		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.523G>A	11.37:g.64681360C>T	ENSP00000366475:p.Val175Ile	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	73	37	0.506849	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	85	0.03891941391941392	76	0.15447154471544716	9	0.024861878453038673	0	0.0	0	0.0	c	13.28	2.190900	0.38707	0.167878	3.49E-4	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.56275	0.47;0.47	3.89	2.61	0.31194	.	0.073749	0.52532	D	0.000064	T	0.00073	0.0002	N	0.11364	0.135	0.34629	P	0.280571	B	0.02656	0.0	B	0.04013	0.001	T	0.05131	-1.0904	9	0.34782	T	0.22	.	4.4866	0.11792	0.0:0.6331:0.0:0.3669	rs12293826;rs52838292;rs12293826	175	Q2TAZ0	ATG2A_HUMAN	I	175	ENSP00000410522:V175I;ENSP00000366475:V175I	ENSP00000227459:V175I	V	-	1	0	ATG2A	64437936	0.840000	0.29493	0.858000	0.33744	0.791000	0.44710	1.131000	0.31406	0.964000	0.38108	0.457000	0.33378	GTC	C|0.940;T|0.060	0.060	strong		0.602	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64681360	C	T	64681360	3	4	22	1	0	0	0	0	1	0	0	0	1093	478	17	2	5445	2	ATG2A	11	64681360	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4090	64681360	70325156	6247	11355										
C11orf85	283129	hgsc.bcm.edu	37	chr11	64714908	64714908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttcgtttcctcatcacAgctcctactgctttcttctc	4	14	4	0	rs75184517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64714908A>G	ENST00000301896.5	-	8	484	c.411T>C	c.(409-411)gcT>gcC	p.A137A	C11orf85_ENST00000536065.1_Silent_p.A31A|C11orf85_ENST00000432175.1_Silent_p.A137A|C11orf85_ENST00000530444.1_Silent_p.A59A	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	137										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TCCTCATCACAGCTCCTACTG	0.567													A|||	92	0.0183706	0.0643	0.0072	5008	,	,		19731	0.0		0.002	False		,,,				2504	0.0				p.A137A		Atlas-SNP	.											.	C11orf85	20	.	0			c.T411C						PASS	.	A		261,4141	148.8+/-183.1	10,241,1950	153	128	137		411	-1.4	0	11	dbSNP_132	137	0,8594		0,0,4297	no	coding-synonymous	C11orf85	NM_001037225.1		10,241,6247	GG,GA,AA		0.0,5.9291,2.0083		137/217	64714908	261,12735	2201	4297	6498	SO:0001819	synonymous_variant	283129	exon7			CATCACAGCTCCT	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.411T>C	11.37:g.64714908A>G		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	41	20	0.487805	NM_001037225	B3KS99	Silent	SNP	ENST00000301896.5	37	CCDS31603.1																																																																																			A|0.982;G|0.018	0.018	strong		0.567	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1	NM_001037225		G	64714908	A	G	64714908	2	3	22	1	0	0	0	0	0	0	0	1	1668	175	7	3		3	C11orf85	11	64714908	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33548	64714908	70291608	6248	11356										
ZFPL1	7542	hgsc.bcm.edu	37	chr11	64854812	64854812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggaaggtgtatgatacgcGggatgatgaccggacaccag	15	7	0	3	rs35251366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64854812G>A	ENST00000294258.3	+	7	805	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	218			R -> Q (in dbSNP:rs35251366).		regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TATGATACGCGGGATGATGAC	0.597													G|||	194	0.038738	0.0734	0.0303	5008	,	,		17531	0.0317		0.0258	False		,,,				2504	0.0184				p.R218Q		Atlas-SNP	.											.	ZFPL1	25	.	0			c.G653A						PASS	.	G	GLN/ARG	248,4154	143.5+/-178.5	6,236,1959	88	91	90		653	4.6	1	11	dbSNP_126	90	160,8434	77.2+/-139.8	3,154,4140	yes	missense	ZFPL1	NM_006782.3	43	9,390,6099	AA,AG,GG		1.8618,5.6338,3.1394	possibly-damaging	218/311	64854812	408,12588	2201	4297	6498	SO:0001583	missense	7542	exon7			ATACGCGGGATGA		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.653G>A	11.37:g.64854812G>A	ENSP00000294258:p.Arg218Gln	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	154	68	0.441558	NM_006782	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	82	0.037545787545787544	33	0.06707317073170732	14	0.03867403314917127	19	0.033216783216783216	16	0.021108179419525065	G	22.1	4.248880	0.80024	0.056338	0.018618	ENSG00000162300	ENST00000294258	T	0.45668	0.89	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.04440	-1.0951	10	0.29301	T	0.29	-20.8505	15.2787	0.73764	0.0:0.0:1.0:0.0	rs35251366;rs35251366	218	O95159	ZFPL1_HUMAN	Q	218	ENSP00000294258:R218Q	ENSP00000294258:R218Q	R	+	2	0	ZFPL1	64611388	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	8.025000	0.88777	2.537000	0.85549	0.650000	0.86243	CGG	G|0.966;A|0.034	0.034	strong		0.597	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		A	64854812	G	A	64854812	3	1	22	1	0	0	0	0	1	0	0	0	17653	1116	39	1	675	1	ZFPL1	11	64854812	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139904	64854812	70151704	6249	11357										
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64882441	64882441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtttggcttcatgctggcGtttggggacatggcctgggt	18	7	1	0	rs33981236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64882441G>A	ENST00000279263.7	+	7	942	c.780G>A	c.(778-780)gcG>gcA	p.A260A	TM7SF2_ENST00000531029.1_3'UTR|AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.A260A|TM7SF2_ENST00000540748.1_Silent_p.A144A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	260					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATGCTGGCGTTTGGGGACA	0.617													G|||	152	0.0303514	0.0681	0.0187	5008	,	,		20654	0.0317		0.003	False		,,,				2504	0.0143				p.A260A		Atlas-SNP	.											TM7SF2,NS,carcinoma,+1,1	TM7SF2	30	1	0			c.G780A						PASS	.	G		201,4019		2,197,1911	171	181	178		780	-2.3	1	11	dbSNP_126	178	14,8428		0,14,4207	no	coding-synonymous	TM7SF2	NM_003273.2		2,211,6118	AA,AG,GG		0.1658,4.763,1.698		260/419	64882441	215,12447	2110	4221	6331	SO:0001819	synonymous_variant	7108	exon7			GCTGGCGTTTGGG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.780G>A	11.37:g.64882441G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	174	93	0.534483	NM_003273	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1	62	0.028388278388278388	33	0.06707317073170732	7	0.019337016574585635	19	0.033216783216783216	3	0.00395778364116095	G	6.877	0.531230	0.13127	0.04763	0.001658	ENSG00000149809	ENST00000528802	.	.	.	5.23	-2.3	0.06785	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21655	-1.0239	4	.	.	.	-10.0796	0.2725	0.00233	0.2909:0.1876:0.2797:0.2419	rs33981236	.	.	.	H	88	.	.	R	+	2	0	TM7SF2	64639017	0.000000	0.05858	0.991000	0.47740	0.658000	0.38924	-1.832000	0.01696	-0.207000	0.10187	-1.332000	0.01269	CGT	G|0.981;A|0.019	0.019	strong		0.617	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		A	64882441	G	A	64882441	2	1	22	1	0	0	0	0	0	0	0	1	15971	1132	40	1		1	TM7SF2	11	64882441	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27629	64882441	70124075	6250	11358										
ZNHIT2	741	hgsc.bcm.edu	37	chr11	64884599	64884599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaagaacccgctcggcgGccgcgggctccgcggcggag	16	17	0	1	rs35983251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64884599G>A	ENST00000310597.4	-	1	571	c.527C>T	c.(526-528)gCc>gTc	p.A176V	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	176			A -> V (in dbSNP:rs35983251).				metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCGCTCGGCGGCCGCGGGCTC	0.721													G|||	118	0.0235623	0.0832	0.0086	5008	,	,		12576	0.0		0.002	False		,,,				2504	0.0				p.A176V		Atlas-SNP	.											.	ZNHIT2	12	.	0			c.C527T						PASS	.	G	VAL/ALA	263,3933		7,249,1842	6	9	8		527	1	0	11	dbSNP_126	8	2,8288		0,2,4143	no	missense	ZNHIT2	NM_014205.2	64	7,251,5985	AA,AG,GG		0.0241,6.2679,2.1224	possibly-damaging	176/404	64884599	265,12221	2098	4145	6243	SO:0001583	missense	741	exon1			TCGGCGGCCGCGG		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.527C>T	11.37:g.64884599G>A	ENSP00000308548:p.Ala176Val	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	9	5	0.555556	NM_014205	Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	CCDS8094.1	42	0.019230769230769232	39	0.07926829268292683	3	0.008287292817679558	0	0.0	0	0.0	G	2.847	-0.239276	0.05944	0.062679	2.41E-4	ENSG00000174276	ENST00000310597	T	0.32272	1.46	0.973	0.973	0.19710	.	1.340080	0.05310	U	0.524668	T	0.01320	0.0043	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.02654	T	1	-0.1191	7.7809	0.29064	0.0:0.0:1.0:0.0	rs35983251	176	Q9UHR6	ZNHI2_HUMAN	V	176	ENSP00000308548:A176V	ENSP00000308548:A176V	A	-	2	0	ZNHIT2	64641175	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.476000	0.06591	0.821000	0.34540	0.561000	0.74099	GCC	G|0.980;A|0.020	0.020	strong		0.721	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		A	64884599	G	A	64884599	3	1	22	1	0	0	0	0	1	0	0	0	18204	1203	42	2	688	2	ZNHIT2	11	64884599	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2158	64884599	70121917	6251	11359										
SYVN1	84447	hgsc.bcm.edu	37	chr11	64898226	64898226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggtgactgcgctggcagCgatgcacgaaggacatccat	15	10	0	1	rs9971407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64898226C>T	ENST00000377190.3	-	11	1105	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	SYVN1_ENST00000307289.6_Silent_p.S286S|SYVN1_ENST00000526060.1_Silent_p.S337S|SYVN1_ENST00000294256.8_Silent_p.S337S|SYVN1_ENST00000526121.1_5'UTR	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	337					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.S337S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCGCTGGCAGCGATGCACGAA	0.692													c|||	657	0.13119	0.1051	0.1556	5008	,	,		10257	0.0615		0.2266	False		,,,				2504	0.1227				p.S337S		Atlas-SNP	.											SYVN1,NS,lymphoid_neoplasm,0,1	SYVN1	55	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1011A						PASS	.	C	,	524,3876		36,452,1712	21	25	24		1011,1011	-10.4	0.1	11	dbSNP_119	24	2025,6561		255,1515,2523	no	coding-synonymous,coding-synonymous	SYVN1	NM_032431.2,NM_172230.2	,	291,1967,4235	TT,TC,CC		23.5849,11.9091,19.6288	,	337/617,337/618	64898226	2549,10437	2200	4293	6493	SO:0001819	synonymous_variant	84447	exon11			TGGCAGCGATGCA	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1011G>A	11.37:g.64898226C>T		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_172230	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1																																																																																			C|0.844;T|0.156	0.156	strong		0.692	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		T	64898226	C	T	64898226	2	4	22	1	0	0	0	0	0	0	0	1	15484	755	27	1		1	SYVN1	11	64898226	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13627	64898226	70108290	6252	11360										
SLC22A20	823	hgsc.bcm.edu	37	chr11	64981472	64981472	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcctgcagaacttcacGgccgctgtccccccccacca	6	20	1	1	rs239258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64981472G>C	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.T43T(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGAACTTCACGGCCGCTGTCC	0.687													G|||	1736	0.346645	0.233	0.2939	5008	,	,		12972	0.3929		0.4553	False		,,,				2504	0.3783				p.T43T		Atlas-SNP	.											SLC22A20,NS,carcinoma,0,6	SLC22A20	36	6	2	Substitution - coding silent(2)	prostate(2)	c.G129C						PASS	.	G		845,3041		105,635,1203	10	15	13		129	-4.7	0.8	11	dbSNP_79	13	3702,4532		877,1948,1292	no	coding-synonymous	SLC22A20	NM_001004326.4		982,2583,2495	CC,CG,GG		44.9599,21.7447,37.5165		43/350	64981472	4547,7573	1943	4117	6060	SO:0001628	intergenic_variant	440044	exon1			CTTCACGGCCGCT	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981472G>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_001004326	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			G|0.614;C|0.386	0.386	strong		0.687	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			C	64981472	G	C	64981472	1	2	22	0	1	0	0	0	0	0	0	0	14451	1103	39	4		4	SLC22A20	11	64981472	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83246	64981472	70025044	6253	11361										
SLC22A20	823	hgsc.bcm.edu	37	chr11	64981853	64981853	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcgcagtccgtctacatGgccggggtgctggtgggggc	19	11	1	0	rs239259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:64981853G>T	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGTCTACATGGCCGGGGTGC	0.667													G|||	1489	0.297324	0.1082	0.268	5008	,	,		14644	0.3889		0.4115	False		,,,				2504	0.362				p.M146I		Atlas-SNP	.											SLC22A20,NS,carcinoma,0,4	SLC22A20	36	4	0			c.G438T						PASS	.	G	ILE/MET	617,3463		55,507,1478	30	34	33		438	4.5	1	11	dbSNP_79	33	3571,4793		742,2087,1353	yes	missense	SLC22A20	NM_001004326.4	10	797,2594,2831	TT,TG,GG		42.6949,15.1225,33.6548	probably-damaging	146/350	64981853	4188,8256	2040	4182	6222	SO:0001628	intergenic_variant	440044	exon2			CTACATGGCCGGG	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981853G>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	40	0.493827	NM_001004326	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			G|0.667;T|0.333	0.333	strong		0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			T	64981853	G	T	64981853	1	4	22	0	1	0	0	0	0	0	0	0	14451	1348	47	4		4	SLC22A20	11	64981853	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	381	64981853	70024663	6254	11362										
CDC42EP2	10435	hgsc.bcm.edu	37	chr11	65088498	65088498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgccacaccattcatatTggcagtggcggcggcagtga	12	12	1	1	rs4149835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65088498T>C	ENST00000544348.1	+	2	735	c.129T>C	c.(127-129)atT>atC	p.I43I	CDC42EP2_ENST00000533419.1_Silent_p.I43I|CDC42EP2_ENST00000279249.2_Silent_p.I43I			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	43	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CCATTCATATTGGCAGTGGCG	0.612													C|||	393	0.0784744	0.2791	0.0303	5008	,	,		19020	0.0		0.003	False		,,,				2504	0.0				p.I43I		Atlas-SNP	.											.	CDC42EP2	13	.	0			c.T129C						PASS	.	C		1061,3341	705.0+/-407.2	120,821,1260	59	59	59		129	-9.5	0.1	11	dbSNP_110	59	9,8585	804.3+/-407.3	0,9,4288	no	coding-synonymous	CDC42EP2	NM_006779.3		120,830,5548	CC,CT,TT		0.1047,24.1027,8.2333		43/211	65088498	1070,11926	2201	4297	6498	SO:0001819	synonymous_variant	10435	exon2			TCATATTGGCAGT	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.129T>C	11.37:g.65088498T>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	128	57	0.445312	NM_006779	B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	CCDS8099.1																																																																																			T|0.914;C|0.086	0.086	strong		0.612	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		C	65088498	T	C	65088498	2	2	22	1	0	0	0	0	0	0	0	1	3076	1800	63	2		2	CDC42EP2	11	65088498	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	106645	65088498	69918018	6255	11363										
DPF2	5977	hgsc.bcm.edu	37	chr11	65113459	65113459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgtgacttctgcctgggGgactcaaagattaacaagaa	10	8	2	3	rs61736579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65113459G>T	ENST00000528416.1	+	8	967	c.834G>T	c.(832-834)ggG>ggT	p.G278G	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G292G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	278					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCTGCCTGGGGGACTCAAAGA	0.537													G|||	57	0.0113818	0.0295	0.0029	5008	,	,		18964	0.0149		0.001	False		,,,				2504	0.0				p.G278G		Atlas-SNP	.											.	DPF2	54	.	0			c.G834T						PASS	.	G		96,4306	78.3+/-116.7	0,96,2105	118	123	121		834	-7.1	0.6	11	dbSNP_129	121	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DPF2	NM_006268.4		0,98,6400	TT,TG,GG		0.0233,2.1808,0.7541		278/392	65113459	98,12898	2201	4297	6498	SO:0001819	synonymous_variant	5977	exon8			CCTGGGGGACTCA	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.834G>T	11.37:g.65113459G>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	103	51	0.495146	NM_006268	A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	CCDS8100.1	26	0.011904761904761904	19	0.03861788617886179	0	0.0	7	0.012237762237762238	0	0.0	G	12.47	1.947810	0.34377	0.021808	2.33E-4	ENSG00000133884	ENST00000531989	D	0.90504	-2.68	5.92	-7.09	0.01553	.	0.000000	0.38005	N	0.001851	T	0.61515	0.2353	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69187	-0.5211	7	0.24483	T	0.36	-20.6054	6.2509	0.20845	0.5834:0.0898:0.2361:0.0906	rs61736579	.	.	.	V	41	ENSP00000435887:G41V	ENSP00000435887:G41V	G	+	2	0	DPF2	64870035	0.000000	0.05858	0.648000	0.29521	0.864000	0.49448	-1.570000	0.02140	-1.394000	0.02077	-2.076000	0.00381	GGG	G|0.989;T|0.011	0.011	strong		0.537	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		T	65113459	G	T	65113459	2	4	22	1	0	0	0	0	0	0	0	1	4717	1219	43	4		4	DPF2	11	65113459	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24961	65113459	69893057	6256	11364										
FRMD8	83786	hgsc.bcm.edu	37	chr11	65164357	65164357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggccgtggggccagggcCgggccgggcgagcagggcct	23	13	0	0	rs12417665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65164357C>T	ENST00000317568.5	+	7	832	c.669C>T	c.(667-669)gcC>gcT	p.A223A	FRMD8_ENST00000355991.5_Silent_p.A167A|FRMD8_ENST00000416776.2_Silent_p.A189A	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	223	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GGGCCAGGGCCGGGCCGGGCG	0.721													C|||	715	0.142772	0.121	0.3401	5008	,	,		14498	0.0615		0.161	False		,,,				2504	0.0971				p.A223A		Atlas-SNP	.											.	FRMD8	28	.	0			c.C669T						PASS	.	C		568,3814		45,478,1668	13	14	14		669	-8.4	0.2	11	dbSNP_120	14	1289,7269		102,1085,3092	no	coding-synonymous	FRMD8	NM_031904.3		147,1563,4760	TT,TC,CC		15.0619,12.9621,14.3509		223/465	65164357	1857,11083	2191	4279	6470	SO:0001819	synonymous_variant	83786	exon7			CAGGGCCGGGCCG	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.669C>T	11.37:g.65164357C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	12	9	0.75	NM_031904	B4E2P1|Q86V56|Q8NCB5	Silent	SNP	ENST00000317568.5	37	CCDS8102.1																																																																																			C|0.850;T|0.150	0.150	strong		0.721	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		T	65164357	C	T	65164357	2	4	22	1	0	0	0	0	0	0	0	1	6056	639	23	1		1	FRMD8	11	65164357	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50898	65164357	69842159	6257	11365										
EHBP1L1	254102	hgsc.bcm.edu	37	chr11	65347723	65347723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgctgctgcgggagggcCgtgccacgtgagtgcctacc	18	12	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65347723C>T	ENST00000309295.4	+	5	749	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	162						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCGGGAGGGCCGTGCCACGTG	0.617																																					p.R162C		Atlas-SNP	.											EHBP1L1,colon,carcinoma,-1,1	EHBP1L1	64	1	0			c.C484T						scavenged	.						82	90	87					11																	65347723		2197	4290	6487	SO:0001583	missense	254102	exon5			GAGGGCCGTGCCA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.484C>T	11.37:g.65347723C>T	ENSP00000312671:p.Arg162Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	97	3	0.0309278	NM_001099409	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298806	0.81025	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.44881	0.91;0.91	5.56	5.56	0.83823	.	0.093689	0.43579	D	0.000545	T	0.53206	0.1782	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55617	-0.8113	10	0.87932	D	0	.	15.0194	0.71617	0.0:1.0:0.0:0.0	.	162	Q8N3D4	EH1L1_HUMAN	C	162	ENSP00000312671:R162C;ENSP00000431996:R162C	ENSP00000312671:R162C	R	+	1	0	EHBP1L1	65104299	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.759000	0.55227	2.619000	0.88677	0.555000	0.69702	CGT	.	.	none		0.617	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		T	65347723	C	T	65347723	3	4	22	1	0	0	0	0	1	0	0	0	4976	652	23	1	502	1	EHBP1L1	11	65347723	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	183366	65347723	69658793	6258	11366										
EHBP1L1	254102	hgsc.bcm.edu	37	chr11	65347922	65347922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcatggcccaggagccccGgaggcccgggctcgagtccc	15	17	1	0	rs78852393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65347922G>A	ENST00000309295.4	+	6	871	c.606G>A	c.(604-606)ccG>ccA	p.P202P		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	202						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAGGAGCCCCGGAGGCCCGGG	0.622													G|||	97	0.019369	0.0688	0.0058	5008	,	,		17515	0.0		0.002	False		,,,				2504	0.0				p.P202P		Atlas-SNP	.											.	EHBP1L1	64	.	0			c.G606A						PASS	.	G		270,3658		8,254,1702	61	66	65		606	-6.2	0.6	11	dbSNP_131	65	2,8312		0,2,4155	no	coding-synonymous	EHBP1L1	NM_001099409.1		8,256,5857	AA,AG,GG		0.0241,6.8737,2.2219		202/1524	65347922	272,11970	1964	4157	6121	SO:0001819	synonymous_variant	254102	exon6			AGCCCCGGAGGCC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.606G>A	11.37:g.65347922G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	36	0.666667	NM_001099409	Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	CCDS44649.1																																																																																			G|0.990;A|0.010	0.010	strong		0.622	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		A	65347922	G	A	65347922	2	1	22	1	0	0	0	0	0	0	0	1	4976	1103	39	1		1	EHBP1L1	11	65347922	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	199	65347922	69658594	6259	11367										
PCNXL3	399909	hgsc.bcm.edu	37	chr11	65392695	65392695	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcagtcttctgtggcctCctggtggcactgtcctacca	9	14	3	0	rs1205259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65392695C>T	ENST00000355703.3	+	17	3512	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	991						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTGTGGCCTCCTGGTGGCAC	0.632													C|||	1178	0.235224	0.3245	0.2421	5008	,	,		13681	0.1349		0.337	False		,,,				2504	0.1084				p.L991L		Atlas-SNP	.											.	PCNXL3	140	.	0			c.C2973T						PASS	.	C		1463,2935		241,981,977	45	48	47		2973	2.6	1	11	dbSNP_87	47	2975,5607		519,1937,1835	no	coding-synonymous	PCNXL3	NM_032223.2		760,2918,2812	TT,TC,CC		34.6656,33.2651,34.1911		991/2035	65392695	4438,8542	2199	4291	6490	SO:0001819	synonymous_variant	399909	exon17			TGGCCTCCTGGTG	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2973C>T	11.37:g.65392695C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	84	43	0.511905	NM_032223	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			C|0.733;T|0.267	0.267	strong		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65392695	C	T	65392695	2	4	22	1	0	0	0	0	0	0	0	1	11593	842	30	2		2	PCNXL3	11	65392695	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44773	65392695	69613821	6260	11368										
PCNXL3	399909	hgsc.bcm.edu	37	chr11	65403666	65403666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcacaagggctgtggcgcCggctgcaatagtggcgggaa	16	10	1	0	rs61732727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65403666C>T	ENST00000355703.3	+	33	6020	c.5481C>T	c.(5479-5481)gcC>gcT	p.A1827A	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1827	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGTGGCGCCGGCTGCAATA	0.632													C|||	160	0.0319489	0.1112	0.0173	5008	,	,		17328	0.0		0.001	False		,,,				2504	0.0				p.A1827A		Atlas-SNP	.											.	PCNXL3	140	.	0			c.C5481T						PASS	.	C		352,3732		7,338,1697	27	32	30		5481	-7.7	0.9	11	dbSNP_129	30	4,8360		0,4,4178	no	coding-synonymous	PCNXL3	NM_032223.2		7,342,5875	TT,TC,CC		0.0478,8.619,2.8599		1827/2035	65403666	356,12092	2042	4182	6224	SO:0001819	synonymous_variant	399909	exon33			TGGCGCCGGCTGC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5481C>T	11.37:g.65403666C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	151	78	0.516556	NM_032223	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			C|0.974;T|0.026	0.026	strong		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65403666	C	T	65403666	2	4	22	1	0	0	0	0	0	0	0	1	11593	639	23	1		1	PCNXL3	11	65403666	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10971	65403666	69602850	6261	11369										
SIPA1	6494	hgsc.bcm.edu	37	chr11	65418048	65418048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcaccccaggagaaggcGgacagggcggccctggagga	18	13	0	1	rs76089059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65418048G>A	ENST00000394224.3	+	16	3287	c.2991G>A	c.(2989-2991)gcG>gcA	p.A997A	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.A997A|SIPA1_ENST00000394227.3_Silent_p.A895A|SIPA1_ENST00000527525.1_Silent_p.A895A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	997					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGGAGAAGGCGGACAGGGCGG	0.692													G|||	134	0.0267572	0.0968	0.0058	5008	,	,		14580	0.0		0.002	False		,,,				2504	0.0				p.A997A		Atlas-SNP	.											SIPA1,colon,carcinoma,+1,1	SIPA1	45	1	0			c.G2991A						PASS	.	G	,	448,3942		20,408,1767	24	29	27		2991,2991	-7.9	0.9	11	dbSNP_131	27	7,8561		0,7,4277	no	coding-synonymous,coding-synonymous	SIPA1	NM_006747.3,NM_153253.29	,	20,415,6044	AA,AG,GG		0.0817,10.205,3.5113	,	997/1043,997/1043	65418048	455,12503	2195	4284	6479	SO:0001819	synonymous_variant	6494	exon16			GAAGGCGGACAGG	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2991G>A	11.37:g.65418048G>A		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	241	105	0.435685	NM_006747	O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	CCDS8108.1																																																																																			G|0.964;A|0.036	0.036	strong		0.692	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		A	65418048	G	A	65418048	2	1	22	1	0	0	0	0	0	0	0	1	14328	1103	39	1		1	SIPA1	11	65418048	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14382	65418048	69588468	6262	11370										
RELA	5970	hgsc.bcm.edu	37	chr11	65422374	65422374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggggccggggccaaggcCgaggcctggctgatctgccc	19	13	1	1	rs7116571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65422374C>T	ENST00000406246.3	-	11	1392	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	RELA_ENST00000308639.9_Silent_p.S374S|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	377				QISQASALA -> RSARPRLG (in Ref. 2; CAA80524). {ECO:0000305}.	acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						gggccaaggccgaggcCTGGC	0.647													C|||	153	0.0305511	0.1074	0.0159	5008	,	,		14470	0.0		0.0	False		,,,				2504	0.0				p.S377S		Atlas-SNP	.											.	RELA	44	.	0			c.G1131A						PASS	.	C	,	346,4040		7,332,1854	10	10	10		1122,1131	-7.6	0.2	11	dbSNP_116	10	6,8576		0,6,4285	no	coding-synonymous,coding-synonymous	RELA	NM_001145138.1,NM_021975.3	,	7,338,6139	TT,TC,CC		0.0699,7.8887,2.7144	,	374/549,377/552	65422374	352,12616	2193	4291	6484	SO:0001819	synonymous_variant	5970	exon11			CAAGGCCGAGGCC	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1131G>A	11.37:g.65422374C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	149	69	0.463087	NM_021975	Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	CCDS31609.1																																																																																			C|0.965;T|0.035	0.035	strong		0.647	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		T	65422374	C	T	65422374	2	4	22	1	0	0	0	0	0	0	0	1	13216	639	23	1		1	RELA	11	65422374	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4326	65422374	69584142	6263	11371										
DKFZp761E198	91056	hgsc.bcm.edu	37	chr11	65547775	65547775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaggcgtcgggccacagCtgcgcagggtactccatgct	15	13	0	1	rs114368095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65547775C>T	ENST00000532090.2	-	2	399	c.189G>A	c.(187-189)caG>caA	p.Q63Q		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	63					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						CGGGCCACAGCTGCGCAGGGT	0.667													C|||	130	0.0259585	0.0893	0.0173	5008	,	,		13769	0.0		0.0	False		,,,				2504	0.0				p.Q63Q		Atlas-SNP	.											.	AP5B1	40	.	0			c.G189A						PASS	.	C		220,3598		0,220,1689	5	7	6		18	3.2	1	11	dbSNP_132	6	4,8094		0,4,4045	no	coding-synonymous	DKFZp761E198	NM_138368.3		0,224,5734	TT,TC,CC		0.0494,5.7622,1.8798		6/822	65547775	224,11692	1909	4049	5958	SO:0001819	synonymous_variant	91056	exon2			CCACAGCTGCGCA	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.189G>A	11.37:g.65547775C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_138368	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	CCDS58146.1																																																																																			C|0.975;T|0.025	0.025	strong		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		T	65547775	C	T	65547775	2	4	22	1	0	0	0	0	0	0	0	1	4543	796	28	2		2	DKFZp761E198	11	65547775	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	125401	65547775	69458741	6264	11372										
EIF1AD	84285	hgsc.bcm.edu	37	chr11	65767578	65767578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcatgctcaccaggaagcGctgcccttgggctgtctcca	13	14	2	0	rs35497370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65767578G>A	ENST00000312234.2	-	3	476	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	EIF1AD_ENST00000526451.1_Missense_Mutation_p.R48C|EIF1AD_ENST00000525767.1_5'UTR|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R48C|EIF1AD_ENST00000527249.1_Missense_Mutation_p.R48C|BANF1_ENST00000445560.2_5'Flank|BANF1_ENST00000527348.1_5'Flank|BANF1_ENST00000533166.1_5'Flank|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000529964.1_Missense_Mutation_p.R48C	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	48	S1-like. {ECO:0000255|PROSITE- ProRule:PRU00181}.					intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						ACCAGGAAGCGCTGCCCTTGG	0.517													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		21003	0.0		0.0	False		,,,				2504	0.0				p.R48C		Atlas-SNP	.											EIF1AD,colon,carcinoma,+1,1	EIF1AD	10	1	0			c.C142T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	29,4373	36.0+/-67.5	0,29,2172	128	115	119		142,142,142,142,142,142,142	5.3	1	11	dbSNP_126	119	0,8592		0,0,4296	yes	missense,missense,missense,missense,missense,missense,missense	EIF1AD	NM_001242481.1,NM_001242482.1,NM_001242483.1,NM_001242484.1,NM_001242485.1,NM_001242486.1,NM_032325.3	180,180,180,180,180,180,180	0,29,6468	AA,AG,GG		0.0,0.6588,0.2232	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	48/166,48/166,48/166,48/166,48/166,48/166,48/166	65767578	29,12965	2201	4296	6497	SO:0001583	missense	84285	exon3			GGAAGCGCTGCCC	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.142C>T	11.37:g.65767578G>A	ENSP00000309175:p.Arg48Cys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_001242483	B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	CCDS8124.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	26.8	4.770117	0.90108	0.006588	0.0	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000529964;ENST00000533544;ENST00000527249;ENST00000530462;ENST00000532707;ENST00000527051	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	0.170574	0.50627	D	0.000112	T	0.51381	0.1671	M	0.62723	1.935	0.80722	D	1	D	0.60575	0.988	P	0.61477	0.889	T	0.58532	-0.7620	10	0.59425	D	0.04	.	16.4684	0.84092	0.0:0.0:1.0:0.0	rs35497370	48	Q8N9N8	EIF1A_HUMAN	C	48	ENSP00000436644:R48C;ENSP00000309175:R48C;ENSP00000435942:R48C;ENSP00000434056:R48C;ENSP00000435439:R48C;ENSP00000435891:R48C;ENSP00000433320:R48C;ENSP00000432135:R48C	ENSP00000309175:R48C	R	-	1	0	EIF1AD	65524154	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.963000	0.49184	2.488000	0.83962	0.561000	0.74099	CGC	G|0.997;A|0.003	0.003	strong		0.517	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		A	65767578	G	A	65767578	3	1	22	1	0	0	0	0	1	0	0	0	4991	1087	38	1	371	1	EIF1AD	11	65767578	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219803	65767578	69238938	6265	11373										
CATSPER1	117144	hgsc.bcm.edu	37	chr11	65787666	65787666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttctcttggatccgggcGgccctctgggaagaagaggc	15	11	2	2	rs34769321|rs3829937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:65787666G>A	ENST00000312106.5	-	9	2207	c.2070C>T	c.(2068-2070)gcC>gcT	p.A690A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	690					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGATCCGGGCGGCCCTCTGGG	0.662													G|||	814	0.16254	0.2065	0.1254	5008	,	,		15119	0.1181		0.16	False		,,,				2504	0.1779				p.A690A		Atlas-SNP	.											.	CATSPER1	101	.	0			c.C2070T						PASS	.	G		904,3498	344.9+/-308.3	95,714,1392	43	45	44		2070	-9.2	0	11	dbSNP_107	44	1331,7261	257.5+/-281.5	102,1127,3067	no	coding-synonymous	CATSPER1	NM_053054.3		197,1841,4459	AA,AG,GG		15.4912,20.5361,17.2002		690/781	65787666	2235,10759	2201	4296	6497	SO:0001819	synonymous_variant	117144	exon9			CCGGGCGGCCCTC	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2070C>T	11.37:g.65787666G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	144	58	0.402778	NM_053054	Q96P76	Silent	SNP	ENST00000312106.5	37	CCDS8127.1																																																																																			G|0.834;A|0.166	0.166	strong		0.662	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		A	65787666	G	A	65787666	2	1	22	1	0	0	0	0	0	0	0	1	2687	1103	39	1		1	CATSPER1	11	65787666	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20088	65787666	69218850	6266	11374										
KLC2	64837	hgsc.bcm.edu	37	chr11	66033430	66033430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatggctgggggtgccgggCctcggtctgagtctgacctc	16	12	2	2	rs2276036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:66033430C>T	ENST00000417856.1	+	13	1792	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	KLC2_ENST00000394065.2_Missense_Mutation_p.P378S|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000316924.5_Missense_Mutation_p.P517S|KLC2_ENST00000394066.2_Missense_Mutation_p.P440S|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000421552.1_Missense_Mutation_p.P440S|KLC2_ENST00000394067.2_Missense_Mutation_p.P517S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	517			P -> S (in dbSNP:rs2276036).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGTGCCGGGCCTCGGTCTGA	0.682													C|||	970	0.19369	0.1823	0.1268	5008	,	,		13064	0.2887		0.173	False		,,,				2504	0.18				p.P517S		Atlas-SNP	.											.	KLC2	50	.	0			c.C1549T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	762,3634	295.0+/-283.4	70,622,1506	36	43	41		1318,1549,1549,1549	0.4	1	11	dbSNP_100	41	1488,7096	269.1+/-288.2	137,1214,2941	yes	missense,missense,missense,missense	KLC2	NM_001134774.1,NM_001134775.1,NM_001134776.1,NM_022822.2	74,74,74,74	207,1836,4447	TT,TC,CC		17.3346,17.3339,17.3344	benign,benign,benign,benign	440/546,517/623,517/623,517/623	66033430	2250,10730	2198	4292	6490	SO:0001583	missense	64837	exon13			GCCGGGCCTCGGT	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1549C>T	11.37:g.66033430C>T	ENSP00000399403:p.Pro517Ser	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	236	111	0.470339	NM_022822	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	422	0.19322344322344323	77	0.1565040650406504	49	0.13535911602209943	160	0.27972027972027974	136	0.17941952506596306	C	4.543	0.100733	0.08731	0.173339	0.173346	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.82081	-0.94;-0.94;-0.94;-0.95;-0.95;-1.57	3.71	0.365	0.16131	.	0.603350	0.14605	N	0.309400	T	0.00012	0.0000	L	0.29908	0.895	0.34550	P	0.288802	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.03453	-1.1035	9	0.18276	T	0.48	-0.0827	7.7791	0.29054	0.0:0.6758:0.1993:0.1249	rs2276036;rs59407109;rs2276036	378;440;517	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	S	517;517;517;440;440;378	ENSP00000399403:P517S;ENSP00000377631:P517S;ENSP00000314837:P517S;ENSP00000408484:P440S;ENSP00000377630:P440S;ENSP00000377629:P378S	ENSP00000314837:P517S	P	+	1	0	KLC2	65790006	0.000000	0.05858	0.986000	0.45419	0.343000	0.28985	-0.074000	0.11450	0.241000	0.21283	0.491000	0.48974	CCT	C|0.818;T|0.182	0.182	strong		0.682	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		T	66033430	C	T	66033430	3	4	22	1	0	0	0	0	1	0	0	0	8334	739	26	2	1595	2	KLC2	11	66033430	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	245764	66033430	68973086	6267	11375										
RIN1	9610	hgsc.bcm.edu	37	chr11	66099888	66099888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggctttgaccccagcatcCccatctccctggcacccttg	7	19	1	1	rs61547186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:66099888C>T	ENST00000311320.4	-	10	2337	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Silent_p.G571G	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	737					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCCAGCATCCCCATCTCCCT	0.647													C|||	153	0.0305511	0.1104	0.0101	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0				p.G737G		Atlas-SNP	.											.	RIN1	64	.	0			c.G2211A						PASS	.	C		437,3963	211.5+/-231.7	17,403,1780	156	151	153		2211	-2.9	0	11	dbSNP_129	153	2,8588	1.2+/-3.3	0,2,4293	no	coding-synonymous	RIN1	NM_004292.2		17,405,6073	TT,TC,CC		0.0233,9.9318,3.3795		737/784	66099888	439,12551	2200	4295	6495	SO:0001819	synonymous_variant	9610	exon10			AGCATCCCCATCT	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.2211G>A	11.37:g.66099888C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	182	182	1	NM_004292	O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																			C|0.969;T|0.031	0.031	strong		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		T	66099888	C	T	66099888	2	4	22	1	0	0	0	0	0	0	0	1	13371	610	22	2		2	RIN1	11	66099888	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66458	66099888	68906628	6268	11376										
RIN1	9610	hgsc.bcm.edu	37	chr11	66102088	66102088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgcagctcctggggctcGggcccagcccgcacctgggt	14	18	0	0	rs3814740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:66102088G>A	ENST00000311320.4	-	6	1308	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Silent_p.P289P|RIN1_ENST00000530056.1_Silent_p.P289P	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	394	Ras and 14-3-3 protein binding region.			AGPE -> DGQR (in Ref. 1, 2 and 3). {ECO:0000305}.	associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCTGGGGCTCGGGCCCAGCCC	0.721													G|||	740	0.147764	0.3026	0.0836	5008	,	,		11802	0.1399		0.0885	False		,,,				2504	0.0532				p.P394P		Atlas-SNP	.											.	RIN1	64	.	0			c.C1182T						PASS	.	G		1109,3245		154,801,1222	10	11	11		1182	-8.5	0	11	dbSNP_107	11	652,7874		43,566,3654	no	coding-synonymous	RIN1	NM_004292.2		197,1367,4876	AA,AG,GG		7.6472,25.4708,13.6724		394/784	66102088	1761,11119	2177	4263	6440	SO:0001819	synonymous_variant	9610	exon6			GGGCTCGGGCCCA	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1182C>T	11.37:g.66102088G>A		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_004292	O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																			G|0.847;A|0.153	0.153	strong		0.721	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66102088	G	A	66102088	2	1	22	1	0	0	0	0	0	0	0	1	13371	1103	39	1		1	RIN1	11	66102088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2200	66102088	68904428	6269	11377										
CCS	9973	hgsc.bcm.edu	37	chr11	66366682	66366682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctctcctggaaggcacgGggcggcaggcggtactcaag	17	11	2	0	rs61731812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:66366682G>A	ENST00000533244.1	+	3	649	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	CCS_ENST00000310190.4_Missense_Mutation_p.G51R	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	70	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GGAAGGCACGGGGCGGCAGGC	0.642													G|||	21	0.00419329	0.0144	0.0029	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0				p.G70R		Atlas-SNP	.											.	CCS	22	.	0			c.G208A						PASS	.	G	ARG/GLY	48,4352	50.9+/-86.3	0,48,2152	68	59	62		208	4.9	1	11	dbSNP_129	62	0,8590		0,0,4295	yes	missense	CCS	NM_005125.1	125	0,48,6447	AA,AG,GG		0.0,1.0909,0.3695	probably-damaging	70/275	66366682	48,12942	2200	4295	6495	SO:0001583	missense	9973	exon3			GGCACGGGGCGGC	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.208G>A	11.37:g.66366682G>A	ENSP00000436318:p.Gly70Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	57	0.626374	NM_005125	Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	CCDS8146.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	27.6	4.842813	0.91197	0.010909	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	D;D	0.94092	-3.35;-2.58	4.87	4.87	0.63330	Heavy metal-associated domain, HMA (3);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96137	0.9097	10	0.87932	D	0	.	13.3773	0.60747	0.0:0.0:1.0:0.0	rs61731812	70	O14618	CCS_HUMAN	R	70;51	ENSP00000436318:G70R;ENSP00000307870:G51R	ENSP00000307870:G51R	G	+	1	0	CCS	66123258	1.000000	0.71417	0.955000	0.39395	0.970000	0.65996	7.533000	0.81994	2.546000	0.85860	0.561000	0.74099	GGG	G|0.996;A|0.004	0.004	strong		0.642	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		A	66366682	G	A	66366682	3	1	22	1	0	0	0	0	1	0	0	0	2952	1232	43	2	218	2	CCS	11	66366682	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	264594	66366682	68639834	6270	11378										
ADRBK1	156	hgsc.bcm.edu	37	chr11	67052322	67052322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtctctcgcctcagactaCgccctgggcaaggactgcat	10	15	2	1	rs115867067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67052322C>T	ENST00000308595.5	+	19	1949	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	553					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCAGACTACGCCCTGGGCA	0.587													C|||	66	0.0131789	0.0484	0.0029	5008	,	,		15108	0.0		0.0	False		,,,				2504	0.0				p.Y553Y		Atlas-SNP	.											.	ADRBK1	51	.	0			c.C1659T						PASS	.	C		168,4230	108.2+/-146.6	4,160,2035	77	56	63		1659	1	1	11	dbSNP_132	63	1,8589		0,1,4294	no	coding-synonymous	ADRBK1	NM_001619.3		4,161,6329	TT,TC,CC		0.0116,3.8199,1.3012		553/690	67052322	169,12819	2199	4295	6494	SO:0001819	synonymous_variant	156	exon19			AGACTACGCCCTG	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1659C>T	11.37:g.67052322C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	76	25	0.328947	NM_001619	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																			C|0.987;T|0.013	0.013	strong		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		T	67052322	C	T	67052322	2	4	22	1	0	0	0	0	0	0	0	1	343	547	19	1		1	ADRBK1	11	67052322	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	685640	67052322	67954194	6271	11379										
SSH3	54961	hgsc.bcm.edu	37	chr11	67075131	67075131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaggagagactgaactcCgaacagagctgcctcaatga	10	11	1	4	rs57238619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67075131C>T	ENST00000308127.4	+	7	892	c.714C>T	c.(712-714)tcC>tcT	p.S238S	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000376757.5_Silent_p.S238S|SSH3_ENST00000308298.7_Silent_p.S238S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	238					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACTGAACTCCGAACAGAGCT	0.642													C|||	508	0.101438	0.2231	0.0634	5008	,	,		19319	0.1101		0.0338	False		,,,				2504	0.0245				p.S238S		Atlas-SNP	.											.	SSH3	54	.	0			c.C714T						PASS	.	C		823,3577	317.4+/-295.1	74,675,1451	41	45	44		714	-2.2	1	11	dbSNP_129	44	216,8374	88.1+/-150.5	2,212,4081	no	coding-synonymous	SSH3	NM_017857.3		76,887,5532	TT,TC,CC		2.5146,18.7045,7.9985		238/660	67075131	1039,11951	2200	4295	6495	SO:0001819	synonymous_variant	54961	exon7			GAACTCCGAACAG	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.714C>T	11.37:g.67075131C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	189	89	0.470899	NM_017857	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	CCDS8157.1																																																																																			C|0.916;T|0.084	0.084	strong		0.642	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		T	67075131	C	T	67075131	2	4	22	1	0	0	0	0	0	0	0	1	15185	639	23	1		1	SSH3	11	67075131	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22809	67075131	67931385	6272	11380										
CLCF1	23529	hgsc.bcm.edu	37	chr11	67135006	67135006	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttctggatggaggggccAggccctgggtcccctgtgcg	17	11	1	0	rs867193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67135006A>T	ENST00000312438.7	-	2	305	c.108T>A	c.(106-108)ccT>ccA	p.P36P	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Silent_p.P26P|CLCF1_ENST00000533438.1_Silent_p.P26P	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	36					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TGGAGGGGCCAGGCCCTGGGT	0.622													A|||	391	0.0780751	0.1422	0.0519	5008	,	,		16418	0.1141		0.0358	False		,,,				2504	0.0164				p.P36P		Atlas-SNP	.											.	CLCF1	15	.	0			c.T108A						PASS	.	A	,	591,3809	260.4+/-263.7	47,497,1656	123	103	110		78,108	-4.2	1	11	dbSNP_86	110	290,8300	107.2+/-168.0	7,276,4012	no	coding-synonymous,coding-synonymous	CLCF1	NM_001166212.1,NM_013246.2	,	54,773,5668	TT,TA,AA		3.376,13.4318,6.7821	,	26/216,36/226	67135006	881,12109	2200	4295	6495	SO:0001819	synonymous_variant	23529	exon2			GGGGCCAGGCCCT	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1"	607672	"CRLF1 associated cytokine-like factor 1"			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.108T>A	11.37:g.67135006A>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	128	72	0.5625	NM_013246	B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	CCDS31617.1																																																																																			A|0.928;T|0.072	0.072	strong		0.622	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		T	67135006	A	T	67135006	2	4	22	1	0	0	0	0	0	0	0	1	3461	175	7	5		5	CLCF1	11	67135006	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59875	67135006	67871510	6273	11381										
TBC1D10C	374403	hgsc.bcm.edu	37	chr11	67171736	67171736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaggatgactccagctcCttggggtccgactcagagct	12	13	1	2	rs2514256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67171736C>T	ENST00000542590.1	+	1	77	c.63C>T	c.(61-63)tcC>tcT	p.S21S	PPP1CA_ENST00000532446.1_5'Flank|PPP1CA_ENST00000358239.4_5'Flank|TBC1D10C_ENST00000312390.5_Silent_p.S21S|TBC1D10C_ENST00000526387.1_Silent_p.S21S|PPP1CA_ENST00000376745.4_5'Flank|PPP1CA_ENST00000312989.7_5'Flank			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	21					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACTCCAGCTCCTTGGGGTCCG	0.667													T|||	1762	0.351837	0.8283	0.4049	5008	,	,		15412	0.2589		0.0785	False		,,,				2504	0.047				p.S21S		Atlas-SNP	.											TBC1D10C,NS,carcinoma,0,1	TBC1D10C	42	1	0			c.C63T						scavenged	.	T		2948,1446		1011,926,260	17	19	18		63	-4.5	0.5	11	dbSNP_100	18	633,7937		24,585,3676	no	coding-synonymous	TBC1D10C	NM_198517.2		1035,1511,3936	TT,TC,CC		7.3862,32.9085,27.6226		21/447	67171736	3581,9383	2197	4285	6482	SO:0001819	synonymous_variant	374403	exon2			CAGCTCCTTGGGG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.63C>T	11.37:g.67171736C>T		Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	77	76	0.987013	NM_001256508	G3V1D6	Silent	SNP	ENST00000542590.1	37	CCDS8162.1																																																																																			C|0.683;T|0.317	0.317	strong		0.667	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		T	67171736	C	T	67171736	2	4	22	1	0	0	0	0	0	0	0	1	15597	668	24	2		2	TBC1D10C	11	67171736	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36730	67171736	67834780	6274	11382										
TBC1D10C	374403	hgsc.bcm.edu	37	chr11	67172911	67172911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatcccgtctgccctgcgCgcccgatgctggcccctgtt	12	18	1	0	rs61734600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67172911C>T	ENST00000542590.1	+	3	308	c.294C>T	c.(292-294)cgC>cgT	p.R98R	TBC1D10C_ENST00000312390.5_Silent_p.R98R|TBC1D10C_ENST00000526387.1_Silent_p.R98R			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	98	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGCCCTGCGCGCCCGATGCT	0.652													C|||	303	0.0605032	0.0794	0.0461	5008	,	,		18421	0.1141		0.0348	False		,,,				2504	0.0164				p.R98R		Atlas-SNP	.											.	TBC1D10C	42	.	0			c.C294T						PASS	.	C		323,4077	166.9+/-198.0	16,291,1893	47	44	45		294	-3.7	0.9	11	dbSNP_129	45	284,8306	106.2+/-167.1	7,270,4018	no	coding-synonymous	TBC1D10C	NM_198517.2		23,561,5911	TT,TC,CC		3.3062,7.3409,4.6728		98/447	67172911	607,12383	2200	4295	6495	SO:0001819	synonymous_variant	374403	exon4			CCTGCGCGCCCGA	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.294C>T	11.37:g.67172911C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	122	77	0.631148	NM_001256508	G3V1D6	Silent	SNP	ENST00000542590.1	37	CCDS8162.1																																																																																			C|0.948;T|0.052	0.052	strong		0.652	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		T	67172911	C	T	67172911	2	4	22	1	0	0	0	0	0	0	0	1	15597	755	27	1		1	TBC1D10C	11	67172911	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1175	67172911	67833605	6275	11383										
TBC1D10C	374403	hgsc.bcm.edu	37	chr11	67176898	67176898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcacagcgtggtgctgtcAgagcgggacctgcagcggga	18	10	1	1	rs11227788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67176898A>G	ENST00000542590.1	+	9	1028	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S	TBC1D10C_ENST00000312390.5_Silent_p.S338S|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.R274G			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	338					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGTGCTGTCAGAGCGGGACC	0.706													G|||	1769	0.353235	0.829	0.4063	5008	,	,		15246	0.2579		0.0835	False		,,,				2504	0.0481				p.R274G		Atlas-SNP	.											.	TBC1D10C	42	.	0			c.A820G						PASS	.	G		1874,1720		484,906,407	4	5	5		1014	-10.1	0	11	dbSNP_120	5	442,6982		21,400,3291	no	coding-synonymous	TBC1D10C	NM_198517.2		505,1306,3698	GG,GA,AA		5.9537,47.8575,21.0201		338/447	67176898	2316,8702	1797	3712	5509	SO:0001819	synonymous_variant	374403	exon9			GCTGTCAGAGCGG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1014A>G	11.37:g.67176898A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_001256508	G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	739	0.3383699633699634	403	0.8191056910569106	117	0.32320441988950277	150	0.26223776223776224	69	0.09102902374670185	G	4.738	0.137218	0.09032	0.521425	0.059537	ENSG00000175463	ENST00000526387	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999260067	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	6	0.62326	D	0.03	.	3.0224	0.06079	0.3073:0.0692:0.3588:0.2647	rs11227788;rs59198381	274	G3V1D6	.	G	274	.	ENSP00000435543:R274G	R	+	1	2	TBC1D10C	66933474	0.000000	0.05858	0.013000	0.15412	0.052000	0.14988	-7.640000	0.00032	-5.141000	0.00021	-3.964000	0.00015	AGA	A|0.659;G|0.341	0.341	strong		0.706	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		G	67176898	A	G	67176898	2	3	22	1	0	0	0	0	0	0	0	1	15597	175	7	3		3	TBC1D10C	11	67176898	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3987	67176898	67829618	6276	11384										
CARNS1	57571	hgsc.bcm.edu	37	chr11	67191449	67191449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgttgtttggtgggcggTtgctggctgcctttgtctcc	16	8	1	0	rs1790747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67191449T>C	ENST00000307823.3	+	9	2313	c.1861T>C	c.(1861-1863)Ttg>Ctg	p.L621L	CARNS1_ENST00000423745.2_Silent_p.L621L|CARNS1_ENST00000531040.1_Silent_p.L718L|CARNS1_ENST00000445895.2_Silent_p.L744L	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	621	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TGGTGGGCGGTTGCTGGCTGC	0.652													C|||	1802	0.359824	0.8298	0.4063	5008	,	,		17757	0.2897		0.0835	False		,,,				2504	0.0481				p.L744L		Atlas-SNP	.											.	CARNS1	60	.	0			c.T2230C						PASS	.	C	,	2879,1419		993,893,263	119	143	135		2230,1861	3.9	0.8	11	dbSNP_89	135	653,7809		21,611,3599	no	coding-synonymous,coding-synonymous	CARNS1	NM_001166222.1,NM_020811.1	,	1014,1504,3862	CC,CT,TT		7.7169,33.0154,27.6803	,	744/951,621/828	67191449	3532,9228	2149	4231	6380	SO:0001819	synonymous_variant	57571	exon10			GGGCGGTTGCTGG		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1861T>C	11.37:g.67191449T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_001166222	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Silent	SNP	ENST00000307823.3	37	CCDS44658.1																																																																																			T|0.648;C|0.352	0.352	strong		0.652	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		C	67191449	T	C	67191449	2	2	22	1	0	0	0	0	0	0	0	1	2656	1722	60	2		2	CARNS1	11	67191449	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14551	67191449	67815067	6277	11385										
RPS6KB2	6199	hgsc.bcm.edu	37	chr11	67200819	67200819	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcctccagccgcccttCaccgcagagaaccggaagaa	8	18	1	2	rs4930427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67200819C>T	ENST00000312629.5	+	10	852	c.807C>T	c.(805-807)ttC>ttT	p.F269F	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	269	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)	p.F269F(1)		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)			AGCCGCCCTTCACCGCAGAGA	0.637													C|||	1783	0.35603	0.3283	0.5389	5008	,	,		17222	0.3264		0.4225	False		,,,				2504	0.226				p.F269F		Atlas-SNP	.											RPS6KB2_ENST00000312629,NS,carcinoma,0,1	RPS6KB2	92	1	1	Substitution - coding silent(1)	stomach(1)	c.C807T						PASS	.	C		1221,2719		198,825,947	89	100	97		807	0.6	1	11	dbSNP_111	97	3473,4791		759,1955,1418	no	coding-synonymous	RPS6KB2	NM_003952.2		957,2780,2365	TT,TC,CC		42.0257,30.9898,38.4628		269/483	67200819	4694,7510	1970	4132	6102	SO:0001819	synonymous_variant	6199	exon10			GCCCTTCACCGCA	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.807C>T	11.37:g.67200819C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_003952	B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	CCDS41677.1																																																																																			A|0.000;C|0.599;T|0.400	0.400	strong		0.637	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		T	67200819	C	T	67200819	2	4	22	1	0	0	0	0	0	0	0	1	13657	825	29	2		2	RPS6KB2	11	67200819	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9370	67200819	67805697	6278	11386										
RPS6KB2	6199	hgsc.bcm.edu	37	chr11	67202156	67202156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaacagtagcccccgggCccccgtcaggtactgaggga	12	16	2	1	rs13859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67202156C>T	ENST00000312629.5	+	14	1304	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	420	Pro-rich.		A -> V (in dbSNP:rs13859). {ECO:0000269|PubMed:10490847, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9804755, ECO:0000269|PubMed:9878560}.		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)			AGCCCCCGGGCCCCCGTCAGG	0.657													C|||	2438	0.486821	0.8079	0.5692	5008	,	,		17451	0.3264		0.4225	False		,,,				2504	0.226				p.A420V		Atlas-SNP	.											RPS6KB2_ENST00000312629,NS,carcinoma,0,2	RPS6KB2	92	2	0			c.C1259T						PASS	.	C	VAL/ALA	2835,1023		1045,745,139	12	13	13		1259	4.4	1	11	dbSNP_52	13	3510,4694		792,1926,1384	yes	missense	RPS6KB2	NM_003952.2	64	1837,2671,1523	TT,TC,CC		42.784,26.5163,47.3968	benign	420/483	67202156	6345,5717	1929	4102	6031	SO:0001583	missense	6199	exon14			CCCGGGCCCCCGT	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.1259C>T	11.37:g.67202156C>T	ENSP00000308413:p.Ala420Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	91	89	0.978022	NM_003952	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	1093	0.5004578754578755	381	0.774390243902439	195	0.5386740331491713	182	0.3181818181818182	335	0.4419525065963061	C	14.64	2.596768	0.46318	0.734837	0.42784	ENSG00000175634	ENST00000312629	T	0.68331	-0.32	4.45	4.45	0.53987	.	0.068776	0.56097	D	0.000031	T	0.00012	0.0000	N	0.08118	0	0.09310	P	1.0	B	0.10296	0.003	B	0.13407	0.009	T	0.39210	-0.9625	9	0.51188	T	0.08	.	15.058	0.71930	0.0:1.0:0.0:0.0	rs13859;rs1132410;rs1790751;rs3178163;rs3193142;rs11558387;rs17296783	420	Q9UBS0	KS6B2_HUMAN	V	420	ENSP00000308413:A420V	ENSP00000308413:A420V	A	+	2	0	RPS6KB2	66958732	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	6.850000	0.75420	2.300000	0.77407	0.462000	0.41574	GCC	C|0.515;T|0.485	0.485	strong		0.657	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		T	67202156	C	T	67202156	3	4	22	1	0	0	0	0	1	0	0	0	13657	739	26	2	1313	2	RPS6KB2	11	67202156	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1337	67202156	67804360	6279	11387										
AIP	9049	hgsc.bcm.edu	37	chr11	67258362	67258362	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctggagctggacccagcCctggcgcctgtggtgagccg	17	13	0	1	rs35665586|rs267606585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67258362C>A	ENST00000279146.3	+	6	1009	c.891C>A	c.(889-891)gcC>gcA	p.A297A	PITPNM1_ENST00000526450.1_5'Flank	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	297					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGGACCCAGCCCTGGCGCCTG	0.652									Familial Isolated Pituitary Adenoma				C|||	31	0.0061901	0.0219	0.0029	5008	,	,		16963	0.0		0.0	False		,,,				2504	0.0				p.A297A		Atlas-SNP	.											.	AIP	26	.	0			c.C891A						PASS	.	C		70,4322	61.1+/-98.1	1,68,2127	25	27	26		891	4	1	11	dbSNP_126	26	1,8585		0,1,4292	no	coding-synonymous	AIP	NM_003977.2		1,69,6419	AA,AC,CC		0.0116,1.5938,0.5471		297/331	67258362	71,12907	2196	4293	6489	SO:0001819	synonymous_variant	9049	exon6	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	CCCAGCCCTGGCG	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"aryl hydrocarbon receptor-interacting protein"			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.891C>A	11.37:g.67258362C>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	148	70	0.472973	NM_003977	A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Silent	SNP	ENST00000279146.3	37	CCDS8168.1																																																																																			C|0.995;A|0.005	0.005	strong		0.652	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			A	67258362	C	A	67258362	2	1	22	1	0	0	0	0	0	0	0	1	435	610	22	4		4	AIP	11	67258362	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56206	67258362	67748154	6280	11388										
PITPNM1	9600	hgsc.bcm.edu	37	chr11	67267636	67267636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaagctggcatcgggggaGgcatctgggcctgggggggc	20	10	1	0	rs59249357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67267636G>A	ENST00000534749.1	-	5	1085	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PITPNM1_ENST00000436757.2_Silent_p.A299A|PITPNM1_ENST00000356404.3_Silent_p.A299A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	299					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCGGGGGAGGCATCTGGGC	0.687													G|||	68	0.0135783	0.0492	0.0043	5008	,	,		14719	0.0		0.0	False		,,,				2504	0.0				p.A299A	GBM(28;144 709 4607 5525)	Atlas-SNP	.											.	PITPNM1	84	.	0			c.C897T						PASS	.						26	32	30					11																	67267636		2172	4257	6429	SO:0001819	synonymous_variant	9600	exon6			GGGGGAGGCATCT	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.897C>T	11.37:g.67267636G>A		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	29	13	0.448276	NM_001130848	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	CCDS31620.1																																																																																			A|0.006;C|0.005;G|0.988	0.006	strong		0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		A	67267636	G	A	67267636	2	1	22	1	0	0	0	0	0	0	0	1	11950	987	35	2		2	PITPNM1	11	67267636	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9274	67267636	67738880	6281	11389										
GSTP1	2950	hgsc.bcm.edu	37	chr11	67353970	67353970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatatgtggggcgcctcagTgcccggcccaagctcaaggc	14	14	2	0	rs4891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67353970T>C	ENST00000398606.3	+	7	804	c.555T>C	c.(553-555)agT>agC	p.S185S	GSTP1_ENST00000398603.1_Silent_p.S149S|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	185	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCGCCTCAGTGCCCGGCCCA	0.622													C|||	1783	0.35603	0.5182	0.4885	5008	,	,		18460	0.1736		0.337	False		,,,				2504	0.2505				p.S185S		Atlas-SNP	.											.	GSTP1	21	.	0			c.T555C						PASS	.	C		1846,2220		420,1006,607	40	43	42		555	-8.6	0	11	dbSNP_52	42	2844,5488		513,1818,1835	no	coding-synonymous	GSTP1	NM_000852.3		933,2824,2442	CC,CT,TT		34.1335,45.4009,37.8287		185/211	67353970	4690,7708	2033	4166	6199	SO:0001819	synonymous_variant	2950	exon7			CCTCAGTGCCCGG	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.555T>C	11.37:g.67353970T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_000852	O00460|Q15690|Q5TZY3	Silent	SNP	ENST00000398606.3	37	CCDS41679.1																																																																																			T|0.688;C|0.312	0.312	strong		0.622	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		C	67353970	T	C	67353970	2	2	22	1	0	0	0	0	0	0	0	1	6844	1693	59	2		2	GSTP1	11	67353970	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86334	67353970	67652546	6282	11390										
NUDT8	254552	hgsc.bcm.edu	37	chr11	67397251	67397251	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtgtacagcagcgccggGaccccacgcactgagcagag	14	14	0	2	rs17851655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:67397251G>C	ENST00000376693.2	-	1	141	c.132C>G	c.(130-132)gtC>gtG	p.V44V	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Silent_p.V44V	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	44	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GCAGCGCCGGGACCCCACGCA	0.766													G|||	750	0.14976	0.289	0.0937	5008	,	,		9332	0.0704		0.0944	False		,,,				2504	0.1401				p.V44V		Atlas-SNP	.											.	NUDT8	12	.	0			c.C132G						PASS	.	G		762,3106		62,638,1234	7	6	6		132	0.8	1	11	dbSNP_123	6	742,6910		41,660,3125	no	coding-synonymous	NUDT8	NM_181843.2		103,1298,4359	CC,CG,GG		9.6968,19.7001,13.0556		44/141	67397251	1504,10016	1934	3826	5760	SO:0001819	synonymous_variant	254552	exon1			CGCCGGGACCCCA	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"Nudix motif containing"	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.132C>G	11.37:g.67397251G>C		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_181843	Q6ZW59	Silent	SNP	ENST00000376693.2	37	CCDS58151.1																																																																																			G|0.869;C|0.131	0.131	strong		0.766	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		C	67397251	G	C	67397251	2	2	22	1	0	0	0	0	0	0	0	1	10745	1161	41	4		4	NUDT8	11	67397251	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43281	67397251	67609265	6283	11391										
SAPS3	55291	hgsc.bcm.edu	37	chr11	68341661	68341661	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagcactgacaagggcccCaacagtgcattagtgcagca	10	13	0	1	rs114505709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:68341661C>A	ENST00000393800.2	+	13	1682	c.1428C>A	c.(1426-1428)ccC>ccA	p.P476P	PPP6R3_ENST00000393799.2_Silent_p.P476P|PPP6R3_ENST00000527403.2_Silent_p.P476P|PPP6R3_ENST00000393801.3_Silent_p.P476P|PPP6R3_ENST00000529710.1_Silent_p.P425P|PPP6R3_ENST00000534534.1_Silent_p.P244P|PPP6R3_ENST00000524845.1_Silent_p.P476P|PPP6R3_ENST00000524904.1_Silent_p.P476P|PPP6R3_ENST00000265637.4_Silent_p.P476P|PPP6R3_ENST00000265636.5_Silent_p.P425P	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	476					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACAAGGGCCCCAACAGTGCAT	0.448													C|||	37	0.00738818	0.025	0.0029	5008	,	,		20069	0.0		0.002	False		,,,				2504	0.0				p.P476P		Atlas-SNP	.											.	PPP6R3	159	.	0			c.C1428A						PASS	.	C	,,,,,	105,4295	80.9+/-119.3	3,99,2098	143	122	129		1428,1428,1428,1428,1275,1275	0.1	1	11	dbSNP_132	129	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R3	NM_001164160.1,NM_001164161.1,NM_001164162.1,NM_001164163.1,NM_001164164.1,NM_018312.4	,,,,,	3,99,6392	AA,AC,CC		0.0,2.3864,0.8084	,,,,,	476/880,476/874,476/868,476/845,425/792,425/794	68341661	105,12883	2200	4294	6494	SO:0001819	synonymous_variant	55291	exon13			GGGCCCCAACAGT	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1428C>A	11.37:g.68341661C>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	68	23	0.338235	NM_001164162	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																			C|0.991;A|0.009	0.009	strong		0.448	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		A	68341661	C	A	68341661	2	1	22	1	0	0	0	0	0	0	0	1	13838	581	21	4		4	SAPS3	11	68341661	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	944410	68341661	66664855	6284	11392										
SAPS3	55291	hgsc.bcm.edu	37	chr11	68377446	68377446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtcccgagactgcagaggCgaagtgcgcggcgcccaggc	17	13	0	2	rs34009811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:68377446C>T	ENST00000393800.2	+	23	2779	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	PPP6R3_ENST00000393799.2_Missense_Mutation_p.A848V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A848V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A762V|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A807V|PPP6R3_ENST00000534534.1_Missense_Mutation_p.A610V|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A813V|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A836V|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A796V|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A762V	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	842			A -> V (in dbSNP:rs34009811).		regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTGCAGAGGCGAAGTGCGCG	0.607													C|||	219	0.04373	0.1604	0.0058	5008	,	,		19105	0.0		0.003	False		,,,				2504	0.0				p.A848V		Atlas-SNP	.											.	PPP6R3	159	.	0			c.C2543T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	566,3834	255.2+/-260.5	35,496,1669	89	80	83		2543,2525,2507,2438,2285,2285	-0.6	0	11	dbSNP_126	83	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense,missense,missense,missense,missense	PPP6R3	NM_001164160.1,NM_001164161.1,NM_001164162.1,NM_001164163.1,NM_001164164.1,NM_018312.4	64,64,64,64,64,64	35,498,5961	TT,TC,CC		0.0233,12.8636,4.3733	benign,benign,benign,benign,benign,benign	848/880,842/874,836/868,813/845,762/792,762/794	68377446	568,12420	2200	4294	6494	SO:0001583	missense	55291	exon24			CAGAGGCGAAGTG	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2525C>T	11.37:g.68377446C>T	ENSP00000377389:p.Ala842Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	129	128	0.992248	NM_001164160	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	85|85	0.03891941391941392|0.03891941391941392	80|80	0.16260162601626016|0.16260162601626016	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	C|C	10.96|10.96	1.498149|1.498149	0.26861|0.26861	0.128636|0.128636	2.33E-4|2.33E-4	ENSG00000110075|ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190|ENST00000530734	T;T;T;T;T;T;T;T;T;T;T|.	0.52295|.	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67|.	5.08|5.08	-0.623|-0.623	0.11556|0.11556	.|.	0.964243|.	0.08580|.	N|.	0.924730|.	T|.	0.00073|.	0.0002|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B;B;B;B;B|.	0.09022|.	0.001;0.0;0.002;0.001;0.002;0.001;0.001;0.001|.	B;B;B;B;B;B;B;B|.	0.11329|.	0.001;0.0;0.006;0.001;0.001;0.0;0.001;0.001|.	T|.	0.23547|.	-1.0185|.	9|.	0.30078|.	T|.	0.28|.	.|.	0.4596|0.4596	0.00514|0.00514	0.2168:0.3253:0.2173:0.2406|0.2168:0.3253:0.2173:0.2406	rs34009811;rs59254728|rs34009811;rs59254728	525;610;762;813;836;842;848;762|.	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4|.	.;.;.;.;.;PP6R3_HUMAN;.;.|.	V|X	848;842;610;813;796;836;848;762;762;807;549|10	ENSP00000377388:A848V;ENSP00000377389:A842V;ENSP00000434429:A610V;ENSP00000431415:A813V;ENSP00000265637:A796V;ENSP00000433058:A836V;ENSP00000377390:A848V;ENSP00000265636:A762V;ENSP00000437329:A762V;ENSP00000433565:A807V;ENSP00000436209:A549V|.	ENSP00000265636:A762V|.	A|R	+|+	2|1	0|2	PPP6R3|PPP6R3	68134022|68134022	0.006000|0.006000	0.16342|0.16342	0.006000|0.006000	0.13384|0.13384	0.008000|0.008000	0.06430|0.06430	0.042000|0.042000	0.13949|0.13949	-0.088000|-0.088000	0.12506|0.12506	-0.459000|-0.459000	0.05422|0.05422	GCG|CGA	C|0.950;T|0.050	0.050	strong		0.607	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		T	68377446	C	T	68377446	3	4	22	1	0	0	0	0	1	0	0	0	13838	768	27	1	2629	1	SAPS3	11	68377446	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35785	68377446	66629070	6285	11393										
CPT1A	1374	hgsc.bcm.edu	37	chr11	68529027	68529027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaggaaaggggactccacAgcgagatatttagacaccac	10	9	0	2	rs2228503	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:68529027A>G	ENST00000265641.5	-	16	2158	c.2004T>C	c.(2002-2004)gcT>gcC	p.A668A	CPT1A_ENST00000539743.1_Silent_p.A668A|CPT1A_ENST00000376618.2_Silent_p.A668A|CPT1A_ENST00000540367.1_Silent_p.A668A|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	668					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A668A(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGACTCCACAGCGAGATATT	0.473													G|||	63	0.0125799	0.0461	0.0014	5008	,	,		19324	0.0		0.001	False		,,,				2504	0.0				p.A668A		Atlas-SNP	.											CPT1A,colon,carcinoma,0,1	CPT1A	89	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T2004C						PASS	.	G	,	117,4283	815.3+/-416.2	2,113,2085	176	173	174		2004,2004	-11.3	0	11	dbSNP_132	174	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	CPT1A	NM_001031847.2,NM_001876.3	,	2,113,6379	GG,GA,AA		0.0,2.6591,0.9008	,	668/757,668/774	68529027	117,12871	2200	4294	6494	SO:0001819	synonymous_variant	1374	exon16			CTCCACAGCGAGA	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2004T>C	11.37:g.68529027A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_001876	Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	CCDS8185.1																																																																																			A|0.991;G|0.009	0.009	strong		0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		G	68529027	A	G	68529027	2	3	22	1	0	0	0	0	0	0	0	1	3831	175	7	3		3	CPT1A	11	68529027	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	151581	68529027	66477489	6286	11394										
MRGPRF	116535	hgsc.bcm.edu	37	chr11	68773403	68773403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacgccggtaaggaacatGcagagccccaggacccggca	12	15	1	1	rs11544722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:68773403G>A	ENST00000309099.6	-	3	757	c.375C>T	c.(373-375)tgC>tgT	p.C125C	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.C125C	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	125						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TAAGGAACATGCAGAGCCCCA	0.687													G|||	1164	0.232428	0.2065	0.1354	5008	,	,		14674	0.2272		0.2694	False		,,,				2504	0.3037				p.C125C		Atlas-SNP	.											.	MRGPRF	22	.	0			c.C375T						PASS	.	G	,	885,3459		100,685,1387	21	21	21		375,375	2.7	0.8	11	dbSNP_120	21	2185,6331		295,1595,2368	no	coding-synonymous,coding-synonymous	MRGPRF	NM_001098515.1,NM_145015.4	,	395,2280,3755	AA,AG,GG		25.6576,20.3729,23.8725	,	125/344,125/344	68773403	3070,9790	2172	4258	6430	SO:0001819	synonymous_variant	116535	exon3			GAACATGCAGAGC	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.375C>T	11.37:g.68773403G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_001098515	B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	CCDS8188.1																																																																																			G|0.763;A|0.237	0.237	strong		0.687	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		A	68773403	G	A	68773403	2	1	22	1	0	0	0	0	0	0	0	1	9765	1311	46	2		2	MRGPRF	11	68773403	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	244376	68773403	66233113	6287	11395										
ORAOV1	220064	hgsc.bcm.edu	37	chr11	69490001	69490001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgaatatgtcctgactgcCagccatagcggcaagcagcc	10	13	0	1	rs56107468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:69490001C>T	ENST00000535657.1	-	1	88	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	ORAOV1_ENST00000279147.4_Missense_Mutation_p.G3S|ORAOV1_ENST00000542341.1_Missense_Mutation_p.G3S|ORAOV1_ENST00000536870.1_Missense_Mutation_p.G3S|ORAOV1_ENST00000539414.1_Missense_Mutation_p.G3S			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	3			G -> S (in dbSNP:rs56107468).							NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCCTGACTGCCAGCCATAGCG	0.677													C|||	111	0.0221645	0.0802	0.0072	5008	,	,		15446	0.0		0.0	False		,,,				2504	0.0				p.G3S		Atlas-SNP	.											.	ORAOV1	11	.	0			c.G7A						PASS	.	C	SER/GLY	279,4109		8,263,1923	28	26	26		7	1.8	0.1	11	dbSNP_129	26	3,8577		0,3,4287	yes	missense	ORAOV1	NM_153451.2	56	8,266,6210	TT,TC,CC		0.035,6.3582,2.1746	benign	3/138	69490001	282,12686	2194	4290	6484	SO:0001583	missense	220064	exon1			GACTGCCAGCCAT		CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"oral cancer overexpressed protein 1-A"	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.7G>A	11.37:g.69490001C>T	ENSP00000446129:p.Gly3Ser	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	218	101	0.463303	NM_153451	B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	CCDS8192.1	46	0.021062271062271064	42	0.08536585365853659	4	0.011049723756906077	0	0.0	0	0.0	C	12.95	2.091045	0.36855	0.063582	3.5E-4	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000536870;ENST00000535657;ENST00000539414;ENST00000441922;ENST00000542341;ENST00000355486;ENST00000543023	T;T;T;T;T;T;T	0.44083	0.95;1.04;0.93;1.04;1.03;0.97;1.03	3.78	1.83	0.25207	.	0.922530	0.09022	N	0.859968	T	0.01029	0.0034	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.34015	0.435;0.034;0.004;0.041	B;B;B;B	0.35510	0.204;0.017;0.01;0.017	T	0.09662	-1.0664	10	0.09338	T	0.73	-25.5519	3.1767	0.06571	0.209:0.5597:0.0:0.2313	rs56107468	3;3;3;3	B4DFA5;F5H6T8;F5GWS9;Q8WV07	.;.;.;ORAV1_HUMAN	S	3	ENSP00000446428:G3S;ENSP00000279147:G3S;ENSP00000441984:G3S;ENSP00000446129:G3S;ENSP00000444112:G3S;ENSP00000409643:G3S;ENSP00000437367:G3S	ENSP00000279147:G3S	G	-	1	0	ORAOV1	69199182	0.000000	0.05858	0.060000	0.19600	0.298000	0.27526	0.050000	0.14120	0.878000	0.35920	0.561000	0.74099	GGC	C|0.978;T|0.022	0.022	strong		0.677	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		T	69490001	C	T	69490001	3	4	22	1	0	0	0	0	1	0	0	0	11260	594	21	2	426	2	ORAOV1	11	69490001	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	716598	69490001	65516515	6288	11396										
FGF4	2249	hgsc.bcm.edu	37	chr11	69588798	69588798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcggtactcaccgagccAtagagcttgcccttgctgct	10	15	1	1	rs61738964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:69588798A>G	ENST00000168712.1	-	2	756	c.438T>C	c.(436-438)taT>taC	p.Y146Y	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_Intron	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	146					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TCACCGAGCCATAGAGCTTGC	0.657													A|||	31	0.0061901	0.0212	0.0043	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0				p.Y146Y		Atlas-SNP	.											.	FGF4	13	.	0			c.T438C						PASS	.	A		100,4300	77.8+/-116.1	3,94,2103	38	34	35		438	1.5	1	11	dbSNP_129	35	0,8588		0,0,4294	no	coding-synonymous	FGF4	NM_002007.2		3,94,6397	GG,GA,AA		0.0,2.2727,0.7699		146/207	69588798	100,12888	2200	4294	6494	SO:0001819	synonymous_variant	2249	exon2			CGAGCCATAGAGC	M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.438T>C	11.37:g.69588798A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	174	83	0.477012	NM_002007	B7U994	Silent	SNP	ENST00000168712.1	37	CCDS8194.1																																																																																			A|0.994;G|0.006	0.006	strong		0.657	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		G	69588798	A	G	69588798	2	3	22	1	0	0	0	0	0	0	0	1	5854	224	8	2		2	FGF4	11	69588798	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	98797	69588798	65417718	6289	11397										
PPFIA1	8500	hgsc.bcm.edu	37	chr11	70185325	70185325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggttccccatggcagaCggccacacagactcctacag	9	15	1	2	rs1061328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:70185325C>T	ENST00000253925.7	+	14	1835	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.D540D	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	540					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCATGGCAGACGGCCACACAG	0.517													C|||	1074	0.214457	0.5219	0.2262	5008	,	,		16990	0.0407		0.1233	False		,,,				2504	0.0634				p.D540D		Atlas-SNP	.											.	PPFIA1	114	.	0			c.C1620T						PASS	.	C	,	2054,2346	559.2+/-380.2	481,1092,627	54	57	56		1620,1620	-3	0	11	dbSNP_86	56	1045,7543	220.2+/-258.0	66,913,3315	no	coding-synonymous,coding-synonymous	PPFIA1	NM_003626.2,NM_177423.1	,	547,2005,3942	TT,TC,CC		12.1681,46.6818,23.8605	,	540/1203,540/1186	70185325	3099,9889	2200	4294	6494	SO:0001819	synonymous_variant	8500	exon14			GGCAGACGGCCAC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1620C>T	11.37:g.70185325C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	200	199	0.995	NM_177423	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	418	0.19139194139194138	230	0.46747967479674796	69	0.19060773480662985	27	0.0472027972027972	92	0.12137203166226913	C	10.25	1.297429	0.23650	0.466818	0.121681	ENSG00000131626	ENST00000530798	.	.	.	5.13	-2.95	0.05564	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.19945	P	0.9999429774	.	.	.	.	.	.	T	0.47886	-0.9082	3	.	.	.	.	6.9386	0.24481	0.0:0.4076:0.1164:0.4759	rs1061328;rs3202388;rs17846080;rs17859080;rs57951249;rs1061328	.	.	.	W	92	.	.	R	+	1	2	PPFIA1	69862973	0.657000	0.27393	0.040000	0.18447	0.017000	0.09413	-0.118000	0.10692	-0.263000	0.09378	-0.258000	0.10820	CGG	C|0.776;T|0.224	0.224	strong		0.517	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		T	70185325	C	T	70185325	2	4	22	1	0	0	0	0	0	0	0	1	12309	535	19	1		1	PPFIA1	11	70185325	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	596527	70185325	64821191	6290	11398										
PPFIA1	8500	hgsc.bcm.edu	37	chr11	70200516	70200516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaccggctgcacaaaggggCgctgcacaccgtcagccacg	13	15	1	1	rs139448605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:70200516C>T	ENST00000253925.7	+	17	2488	c.2273C>T	c.(2272-2274)gCg>gTg	p.A758V	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.A758V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	758					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CACAAAGGGGCGCTGCACACC	0.567													C|||	50	0.00998403	0.0378	0.0	5008	,	,		15864	0.0		0.0	False		,,,				2504	0.0				p.A758V		Atlas-SNP	.											.	PPFIA1	114	.	0			c.C2273T						PASS	.	C	VAL/ALA,VAL/ALA	116,4284	88.2+/-126.9	0,116,2084	51	44	46		2273,2273	4.4	0	11	dbSNP_134	46	2,8586	1.2+/-3.3	0,2,4292	yes	missense,missense	PPFIA1	NM_003626.2,NM_177423.1	64,64	0,118,6376	TT,TC,CC		0.0233,2.6364,0.9085	benign,benign	758/1203,758/1186	70200516	118,12870	2200	4294	6494	SO:0001583	missense	8500	exon17			AAGGGGCGCTGCA	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2273C>T	11.37:g.70200516C>T	ENSP00000253925:p.Ala758Val	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	63	26	0.412698	NM_177423	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	14|14	0.00641025641025641|0.00641025641025641	14|14	0.028455284552845527|0.028455284552845527	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	14.81|14.81	2.646317|2.646317	0.47258|0.47258	0.026364|0.026364	2.33E-4|2.33E-4	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000528750	T;T|.	0.28255|.	1.62;1.62|.	5.36|5.36	4.45|4.45	0.53987|0.53987	.|.	0.314716|.	0.29508|.	N|.	0.011941|.	T|T	0.36580|0.36580	0.0972|0.0972	M|M	0.62723|0.62723	1.935|1.935	0.31697|0.31697	N|N	0.64121|0.64121	B;B|.	0.23377|.	0.012;0.084|.	B;B|.	0.15870|.	0.004;0.014|.	T|T	0.59920|0.59920	-0.7363|-0.7363	10|5	0.29301|.	T|.	0.29|.	.|.	14.198|14.198	0.65684|0.65684	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	758;758|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	V|C	758;758;255|201	ENSP00000253925:A758V;ENSP00000374198:A758V|.	ENSP00000253925:A758V|.	A|R	+|+	2|1	0|0	PPFIA1|PPFIA1	69878164|69878164	0.926000|0.926000	0.31397|0.31397	0.009000|0.009000	0.14445|0.14445	0.490000|0.490000	0.33462|0.33462	2.135000|2.135000	0.42112|0.42112	1.272000|1.272000	0.44329|0.44329	0.561000|0.561000	0.74099|0.74099	GCG|CGC	C|0.992;T|0.008	0.008	strong		0.567	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		T	70200516	C	T	70200516	3	4	22	1	0	0	0	0	1	0	0	0	12309	768	27	1	2335	1	PPFIA1	11	70200516	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15191	70200516	64806000	6291	11399										
PPFIA1	8500	hgsc.bcm.edu	37	chr11	70200529	70200529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggggcgctgcacaccgtCagccacgaggacatcaggga	14	12	2	0	rs17853270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:70200529C>T	ENST00000253925.7	+	17	2501	c.2286C>T	c.(2284-2286)gtC>gtT	p.V762V	PPFIA1_ENST00000389547.3_Silent_p.V762V|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	762					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCACACCGTCAGCCACGAGG	0.552													C|||	655	0.130791	0.2194	0.2003	5008	,	,		16140	0.0407		0.1223	False		,,,				2504	0.0634				p.V762V		Atlas-SNP	.											.	PPFIA1	114	.	0			c.C2286T						PASS	.	C	,	870,3530	334.9+/-303.7	88,694,1418	45	40	42		2286,2286	2.4	1	11	dbSNP_123	42	1038,7550	220.2+/-258.0	65,908,3321	no	coding-synonymous,coding-synonymous	PPFIA1	NM_003626.2,NM_177423.1	,	153,1602,4739	TT,TC,CC		12.0866,19.7727,14.6905	,	762/1203,762/1186	70200529	1908,11080	2200	4294	6494	SO:0001819	synonymous_variant	8500	exon17			CACCGTCAGCCAC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2286C>T	11.37:g.70200529C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	63	62	0.984127	NM_177423	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	289|289	0.13232600732600733|0.13232600732600733	108|108	0.21951219512195122|0.21951219512195122	62|62	0.1712707182320442|0.1712707182320442	27|27	0.0472027972027972|0.0472027972027972	92|92	0.12137203166226913|0.12137203166226913	C|C	10.55|10.55	1.380523|1.380523	0.24944|0.24944	0.197727|0.197727	0.120866|0.120866	ENSG00000131626|ENSG00000131626	ENST00000530798|ENST00000528750	.|.	.|.	.|.	5.36|5.36	2.36|2.36	0.29203|0.29203	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999999256|0.9999999999999256	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.20472	.|-1.0274	.|3	.|.	.|.	.|.	.|.	4.0275|4.0275	0.09693|0.09693	0.1192:0.4429:0.3422:0.0956|0.1192:0.4429:0.3422:0.0956	rs17853270|rs17853270	.|.	.|.	.|.	X|L	155|205	.|.	.|.	Q|S	+|+	1|2	0|0	PPFIA1|PPFIA1	69878177|69878177	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.859000|0.859000	0.49053|0.49053	2.049000|2.049000	0.41288|0.41288	1.281000|1.281000	0.44480|0.44480	0.561000|0.561000	0.74099|0.74099	CAG|TCA	C|0.855;T|0.145	0.145	strong		0.552	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		T	70200529	C	T	70200529	2	4	22	1	0	0	0	0	0	0	0	1	12309	813	29	2		2	PPFIA1	11	70200529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	70200529	64805987	6292	11400										
CTTN	2017	hgsc.bcm.edu	37	chr11	70279759	70279759	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctttcttttagaggacaGcacctacgatgagtacgaga					rs56162978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:70279759G>A	ENST00000301843.8	+	17	1657	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	CTTN_ENST00000376561.3_Missense_Mutation_p.S447N|CTTN_ENST00000538675.1_Missense_Mutation_p.S168N|CTTN_ENST00000346329.3_Missense_Mutation_p.S447N	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	484					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTAGAGGACAGCACCTACGAT	0.517													G|||	261	0.0521166	0.1884	0.0173	5008	,	,		16431	0.0		0.0	False		,,,				2504	0.0				p.S484N		Atlas-SNP	.											.	CTTN	162	.	0			c.G1451A						PASS	.		ASN/SER,ASN/SER,ASN/SER	788,3612	319.1+/-295.9	55,678,1467	159	153	155		1340,1451,1340	-0.8	0	11	dbSNP_129	155	5,8583	3.7+/-12.6	0,5,4289	yes	missense,missense,missense	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	46,46,46	55,683,5756	AA,AG,GG		0.0582,17.9091,6.1056	benign,benign,benign	447/635,484/551,447/514	70279759	793,12195	2200	4294	6494	SO:0001583	missense	2017	exon17			AGGACAGCACCTA	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1451G>A	11.37:g.70279759G>A	ENSP00000301843:p.Ser484Asn	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	138	64	0.463768	NM_005231	Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	CCDS41680.1	85	0.03891941391941392	81	0.16463414634146342	4	0.011049723756906077	0	0.0	0	0.0	G	1.497	-0.553053	0.03996	0.179091	5.82E-4	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.32753	1.44;1.45;1.48;1.88;1.86	4.86	-0.816	0.10839	Src homology-3 domain (1);	0.722113	0.13537	N	0.380525	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.0;0.0;0.001	T	0.21143	-1.0254	10	0.05525	T	0.97	-27.692	5.4208	0.16400	0.6072:0.1347:0.258:0.0	rs56162978;rs58344286	168;447;484;447	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	N	447;484;447;168;141	ENSP00000317189:S447N;ENSP00000301843:S484N;ENSP00000365745:S447N;ENSP00000439762:S168N;ENSP00000431421:S141N	ENSP00000301843:S484N	S	+	2	0	CTTN	69957407	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.316000	0.19469	-0.462000	0.06984	-0.891000	0.02926	AGC	G|0.941;A|0.059	0.059	strong		0.517	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		A	70279759	G	A	70279759	3	1	22	1	0	0	0	0	1	0	0	0	4044	971	34	2	1509	2	CTTN	11	70279759	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79230	70279759	64726757	6293	11401	232	2								
CTTN	2017	hgsc.bcm.edu	37	chr11	70279766	70279766	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttagaggacagcacctaCgatgagtacgagaacgatct					rs643301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:70279766C>T	ENST00000301843.8	+	17	1664	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	CTTN_ENST00000376561.3_Silent_p.Y449Y|CTTN_ENST00000538675.1_Silent_p.Y170Y|CTTN_ENST00000346329.3_Silent_p.Y449Y	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	486					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACAGCACCTACGATGAGTACG	0.532													C|||	917	0.183107	0.2413	0.134	5008	,	,		16466	0.0119		0.1988	False		,,,				2504	0.2996				p.Y486Y		Atlas-SNP	.											.	CTTN	162	.	0			c.C1458T						PASS	.		,,	973,3427	366.4+/-317.8	105,763,1332	156	150	152		1347,1458,1347	-2.7	0	11	dbSNP_83	152	1801,6787	325.0+/-316.7	195,1411,2688	no	coding-synonymous,coding-synonymous,coding-synonymous	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	,,	300,2174,4020	TT,TC,CC		20.9711,22.1136,21.3582	,,	449/635,486/551,449/514	70279766	2774,10214	2200	4294	6494	SO:0001819	synonymous_variant	2017	exon17			CACCTACGATGAG	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1458C>T	11.37:g.70279766C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	140	71	0.507143	NM_005231	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1																																																																																			C|0.811;T|0.189	0.189	strong		0.532	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		T	70279766	C	T	70279766	2	4	22	1	0	0	0	0	0	0	0	1	4044	547	19	1		1	CTTN	11	70279766	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	70279766	64726750	6294	11402	232	2								
KRTAP5-7	440050	hgsc.bcm.edu	37	chr11	71238453	71238453	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatgtggctccagctgctGtgtgcccgtctgctgctgca					rs147685834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71238453G>C	ENST00000398536.4	+	1	141	c.107G>C	c.(106-108)tGt>tCt	p.C36S		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	36	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TCCAGCTGCTGTGTGCCCGTC	0.682													g|||	1257	0.250998	0.2088	0.2233	5008	,	,		10723	0.2877		0.1918	False		,,,				2504	0.3507				p.C36S		Atlas-SNP	.											KRTAP5-7,NS,carcinoma,0,1	KRTAP5-7	23	1	0			c.G107C						PASS	.	G	SER/CYS	856,3544		65,726,1409	69	90	83		107	1.8	1	11	dbSNP_134	83	1314,7270		110,1094,3088	no	missense	KRTAP5-7	NM_001012503.1	112	175,1820,4497	CC,CG,GG		15.3075,19.4545,16.7129	possibly-damaging	36/166	71238453	2170,10814	2200	4292	6492	SO:0001583	missense	440050	exon1			GCTGCTGTGTGCC	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.107G>C	11.37:g.71238453G>C	ENSP00000417330:p.Cys36Ser	Somatic	334	0	0		WXS	Illumina HiSeq	Phase_I	361	164	0.454294	NM_001012503	B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	497	0.22756410256410256	100	0.2032520325203252	86	0.23756906077348067	173	0.30244755244755245	138	0.1820580474934037	N	6.704	0.498625	0.12762	0.194545	0.153075	ENSG00000244411	ENST00000398536	T	0.01397	4.94	1.8	1.8	0.24995	.	.	.	.	.	T	0.00012	0.0000	M	0.89658	3.05	0.43608	P	0.004022999999999999	P	0.47106	0.89	P	0.54965	0.765	T	0.33624	-0.9861	8	0.54805	T	0.06	.	7.1256	0.25469	0.0:0.0:1.0:0.0	.	36	Q6L8G8	KRA57_HUMAN	S	36	ENSP00000417330:C36S	ENSP00000417330:C36S	C	+	2	0	KRTAP5-7	70916101	1.000000	0.71417	0.978000	0.43139	0.179000	0.23085	3.185000	0.50934	1.345000	0.45676	0.281000	0.19383	TGT	G|0.807;C|0.193	0.193	strong		0.682	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			C	71238453	G	C	71238453	3	2	22	1	0	0	0	0	1	0	0	0	8566	1377	48	4	109	4	KRTAP5-7	11	71238453	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	958687	71238453	63768063	6295	11403	233	2								
KRTAP5-7	440050	hgsc.bcm.edu	37	chr11	71238461	71238461	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccagctgctgtgtgcccGtctgctgctgcaagcccgtg					rs200128074		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71238461G>A	ENST00000398536.4	+	1	149	c.115G>A	c.(115-117)Gtc>Atc	p.V39I		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	39	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGTGCCCGTCTGCTGCTG	0.687																																					p.V39I		Atlas-SNP	.											.	KRTAP5-7	23	.	0			c.G115A						PASS	.	G	ILE/VAL	5,4395		0,5,2195	71	93	86		115	1.8	0.7	11		86	13,8569		0,13,4278	no	missense	KRTAP5-7	NM_001012503.1	29	0,18,6473	AA,AG,GG		0.1515,0.1136,0.1387	possibly-damaging	39/166	71238461	18,12964	2200	4291	6491	SO:0001583	missense	440050	exon1			GTGCCCGTCTGCT	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.115G>A	11.37:g.71238461G>A	ENSP00000417330:p.Val39Ile	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	365	19	0.0520548	NM_001012503	B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	8.822	0.937856	0.18206	0.001136	0.001515	ENSG00000244411	ENST00000398536	T	0.01484	4.84	1.8	1.8	0.24995	.	.	.	.	.	T	0.01320	0.0043	L	0.38838	1.175	0.09310	N	0.999992	P	0.51537	0.946	B	0.30782	0.12	T	0.53528	-0.8426	9	0.41790	T	0.15	.	7.1256	0.25469	0.0:0.0:1.0:0.0	.	39	Q6L8G8	KRA57_HUMAN	I	39	ENSP00000417330:V39I	ENSP00000417330:V39I	V	+	1	0	KRTAP5-7	70916109	1.000000	0.71417	0.723000	0.30687	0.465000	0.32709	2.993000	0.49425	1.345000	0.45676	0.281000	0.19383	GTC	G|0.999;A|0.001	0.001	weak		0.687	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			A	71238461	G	A	71238461	3	1	22	1	0	0	0	0	1	0	0	0	8566	1145	40	1	117	1	KRTAP5-7	11	71238461	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8	71238461	63768055	6296	11404	233	2								
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249121	71249121	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgggctgctgtggctgctCtggaggctgtggctccggct					rs200585722		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	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						PASS	.						47	66	60					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	11.37:g.71249121C>G	ENSP00000420723:p.Ser7Cys	Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	233	37	0.158798	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	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	.	.	weak		0.657	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249121	C	G	71249121	3	3	22	1	0	0	0	0	1	0	0	0	8567	913	32	4	22	4	KRTAP5-8	11	71249121	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10660	71249121	63757395	6297	11405	234	2	24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249125	71249125	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgctgtggctgctctggAggctgtggctccggctgtgg					rs537752041|rs113379698|rs55848980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																					p.G8G		Atlas-SNP	.											KRTAP5-8,rectum,carcinoma,0,2	KRTAP5-8	28	2	0			c.A24G						scavenged	.						47	66	60					11																	71249125		2189	4280	6469	SO:0001819	synonymous_variant	57830	exon1			CTCTGGAGGCTGT	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.24A>G	11.37:g.71249125A>G		Somatic	327	1	0.0030581		WXS	Illumina HiSeq	Phase_I	234	55	0.235043	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			A|0.500;G|0.500	0.500	weak		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249125	A	G	71249125	2	3	22	1	0	0	0	0	0	0	0	1	8567	291	11	3		3	KRTAP5-8	11	71249125	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	71249125	63757391	6298	11406	234	2	24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249152	71249152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctccggctgtgggggctgCggctctggctgtgggggatg	22	9	1	0	rs112809261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249152C>T	ENST00000398534.3	+	1	82	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	17						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GTGGGGGCTGCGGCTCTGGCT	0.652																																					p.C17C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,+1,1	KRTAP5-8	28	1	0			c.C51T						scavenged	.						55	75	68					11																	71249152		2195	4284	6479	SO:0001819	synonymous_variant	57830	exon1			GGGCTGCGGCTCT	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.51C>T	11.37:g.71249152C>T		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	226	88	0.389381	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			C|0.896;T|0.104	0.104	strong		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249152	C	T	71249152	2	4	22	1	0	0	0	0	0	0	0	1	8567	776	27	1		1	KRTAP5-8	11	71249152	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27	71249152	63757364	6299	11407			24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249183	71249183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggggatgtggctctagcTgctgtgtgcccatctgctgc	16	10	2	0	rs55921335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249183T>C	ENST00000398534.3	+	1	113	c.82T>C	c.(82-84)Tgc>Cgc	p.C28R		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	28	9 X 4 AA repeats of C-C-X-P.		C -> R (in dbSNP:rs55921335).	SC -> GCGGCGSSR (in Ref. 1; CAA07188). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGCTCTAGCTGCTGTGTGCC	0.677													t|||	1658	0.33107	0.27	0.4323	5008	,	,		12402	0.4772		0.3141	False		,,,				2504	0.2086				p.C28R		Atlas-SNP	.											KRTAP5-8,colon,carcinoma,0,1	KRTAP5-8	28	1	0			c.T82C						PASS	.	T	ARG/CYS	1293,3107		205,883,1112	78	101	93		82	1.6	0.9	11	dbSNP_129	93	2482,6104		366,1750,2177	no	missense	KRTAP5-8	NM_021046.2	180	571,2633,3289	CC,CT,TT		28.9075,29.3864,29.0698	probably-damaging	28/188	71249183	3775,9211	2200	4293	6493	SO:0001583	missense	57830	exon1			TCTAGCTGCTGTG	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.82T>C	11.37:g.71249183T>C	ENSP00000420723:p.Cys28Arg	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	235	101	0.429787	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	861	0.3942307692307692	142	0.2886178861788618	159	0.43922651933701656	307	0.5367132867132867	253	0.3337730870712401	t	0.655	-0.808097	0.02819	0.293864	0.289075	ENSG00000241233	ENST00000398534	T	0.03242	4.0	1.57	1.57	0.23409	.	.	.	.	.	T	0.00012	0.0000	M	0.90542	3.125	0.24078	P	0.9959551	D	0.76494	0.999	D	0.74023	0.982	T	0.45131	-0.9282	8	0.72032	D	0.01	.	3.3369	0.07105	0.0:0.225:0.0:0.775	rs55921335	28	O75690	KRA58_HUMAN	R	28	ENSP00000420723:C28R	ENSP00000420723:C28R	C	+	1	0	KRTAP5-8	70926831	0.997000	0.39634	0.853000	0.33588	0.060000	0.15804	2.213000	0.42844	0.974000	0.38366	0.421000	0.28195	TGC	T|0.650;C|0.350	0.350	strong		0.677	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		C	71249183	T	C	71249183	3	2	22	1	0	0	0	0	1	0	0	0	8567	1580	55	3	84	3	KRTAP5-8	11	71249183	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31	71249183	63757333	6300	11408			24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249458	71249458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgttcccagtccagctgTtgtaagccctgcagctgctc	10	14	0	0	rs372455775		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249458T>C	ENST00000398534.3	+	1	388	c.357T>C	c.(355-357)tgT>tgC	p.C119C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	119	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGTTGTAAGCCCT	0.607																																					p.C119C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,0,1	KRTAP5-8	28	1	0			c.T357C						scavenged	.						174	186	182					11																	71249458		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CAGCTGTTGTAAG	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.357T>C	11.37:g.71249458T>C		Somatic	181	6	0.0331492		WXS	Illumina HiSeq	Phase_I	235	9	0.0382979	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			.	.	weak		0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		C	71249458	T	C	71249458	2	2	22	1	0	0	0	0	0	0	0	1	8567	1731	60	2		2	KRTAP5-8	11	71249458	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	275	71249458	63757058	6301	11409			24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249471	71249471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagctgttgtaagccctgcAgctgctcttcaggctgtggg	13	12	2	0	rs112605265		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249471A>T	ENST00000398534.3	+	1	401	c.370A>T	c.(370-372)Agc>Tgc	p.S124C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	124	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S124C(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCAGCTGCTCTTC	0.602																																					p.S124C		Atlas-SNP	.											KRTAP5-8,extremity,malignant_melanoma,0,1	KRTAP5-8	28	1	1	Substitution - Missense(1)	skin(1)	c.A370T						scavenged	.						172	182	179					11																	71249471		2200	4294	6494	SO:0001583	missense	57830	exon1			CCCTGCAGCTGCT	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.370A>T	11.37:g.71249471A>T	ENSP00000420723:p.Ser124Cys	Somatic	173	2	0.0115607		WXS	Illumina HiSeq	Phase_I	241	12	0.0497925	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.403875	0.00195	.	.	ENSG00000241233	ENST00000398534	T	0.01234	5.13	0.978	-1.96	0.07525	.	.	.	.	.	T	0.00241	0.0007	N	0.00009	-3.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	9	0.02654	T	1	.	4.0663	0.09862	0.6007:0.0:0.0:0.3993	.	124	O75690	KRA58_HUMAN	C	124	ENSP00000420723:S124C	ENSP00000420723:S124C	S	+	1	0	KRTAP5-8	70927119	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.224000	0.17738	-0.699000	0.05077	-2.447000	0.00209	AGC	A|0.500;T|0.500	0.500	weak		0.602	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249471	A	T	71249471	3	4	22	1	0	0	0	0	1	0	0	0	8567	188	7	5	372	5	KRTAP5-8	11	71249471	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13	71249471	63757045	6302	11410			24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249530	71249530	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgctgcaagccctgctgTtcccagtccagctgctgtaa					rs532438179|rs369043826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249530T>C	ENST00000398534.3	+	1	460	c.429T>C	c.(427-429)tgT>tgC	p.C143C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	143	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGCCCTGCTGTTCCCAGTCCA	0.612																																					p.C143C		Atlas-SNP	.											KRTAP5-8,NS,carcinoma,+1,1	KRTAP5-8	28	1	0			c.T429C						scavenged	.						146	159	155					11																	71249530		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CTGCTGTTCCCAG	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.429T>C	11.37:g.71249530T>C		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	229	16	0.069869	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			.	.	none		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		C	71249530	T	C	71249530	2	2	22	1	0	0	0	0	0	0	0	1	8567	1731	60	2		2	KRTAP5-8	11	71249530	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	59	71249530	63756986	6303	11411	235	2	24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249532	71249532	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgcaagccctgctgttCccagtccagctgctgtaagc					rs532438179|rs11234084|rs369043826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249532C>G	ENST00000398534.3	+	1	462	c.431C>G	c.(430-432)tCc>tGc	p.S144C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	144	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCCTGCTGTTCCCAGTCCAGC	0.612																																					p.S144C		Atlas-SNP	.											.	KRTAP5-8	28	.	0			c.C431G						PASS	.						148	160	156					11																	71249532		2200	4294	6494	SO:0001583	missense	57830	exon1			GCTGTTCCCAGTC	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.431C>G	11.37:g.71249532C>G	ENSP00000420723:p.Ser144Cys	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	222	9	0.0405405	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	3.125	-0.179750	0.06380	.	.	ENSG00000241233	ENST00000398534	T	0.01197	5.19	1.57	-2.99	0.05497	.	.	.	.	.	T	0.00552	0.0018	N	0.02213	-0.635	0.21861	N	0.999505	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.02654	T	1	.	12.0511	0.53507	0.0:0.7645:0.2355:0.0	rs11234084	144	O75690	KRA58_HUMAN	C	144	ENSP00000420723:S144C	ENSP00000420723:S144C	S	+	2	0	KRTAP5-8	70927180	0.000000	0.05858	0.375000	0.26029	0.014000	0.08584	-0.627000	0.05521	-0.723000	0.04915	-0.951000	0.02657	TCC	.	.	weak		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249532	C	G	71249532	3	3	22	1	0	0	0	0	1	0	0	0	8567	855	30	4	433	4	KRTAP5-8	11	71249532	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	71249532	63756984	6304	11412	235	2	24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249605	71249605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgccagtccagctgctgCaagccctgctgttcccagtc	10	16	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71249605C>T	ENST00000398534.3	+	1	535	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	168	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCAGCTGCTGCAAGCCCTGCT	0.592																																					p.C168C		Atlas-SNP	.											.	KRTAP5-8	28	.	0			c.C504T						PASS	.						134	144	141					11																	71249605		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CTGCTGCAAGCCC	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.504C>T	11.37:g.71249605C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	195	32	0.164103	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			.	.	none		0.592	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249605	C	T	71249605	2	4	22	1	0	0	0	0	0	0	0	1	8567	718	25	2		2	KRTAP5-8	11	71249605	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73	71249605	63756911	6305	11413			24	53	11965822	9	7	485	N	T_C_A	3.091802e-08
KRTAP5-9	3846	hgsc.bcm.edu	37	chr11	71259709	71259709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatccaccagaaccatgggCtgctgtggctgctccggagg	13	13	0	1	rs180808688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71259709C>T	ENST00000528743.2	+	1	244	c.6C>T	c.(4-6)ggC>ggT	p.G2G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	2					epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GAACCATGGGCTGCTGTGGCT	0.642													c|||	10	0.00199681	0.0068	0.0014	5008	,	,		17898	0.0		0.0	False		,,,				2504	0.0				p.G2G		Atlas-SNP	.											.	KRTAP5-9	19	.	0			c.C6T						PASS	.	C		32,4366		0,32,2167	84	95	91		6	1.6	1	11		91	0,8588		0,0,4294	no	coding-synonymous	KRTAP5-9	NM_005553.3		0,32,6461	TT,TC,CC		0.0,0.7276,0.2464		2/170	71259709	32,12954	2199	4294	6493	SO:0001819	synonymous_variant	3846	exon1			CATGGGCTGCTGT	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.6C>T	11.37:g.71259709C>T		Somatic	453	1	0.00220751		WXS	Illumina HiSeq	Phase_I	521	234	0.449136	NM_005553	Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	CCDS53677.1																																																																																			C|0.999;T|0.001	0.001	strong		0.642	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			T	71259709	C	T	71259709	2	4	22	1	0	0	0	0	0	0	0	1	8568	784	28	2		2	KRTAP5-9	11	71259709	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10104	71259709	63746807	6306	11414										
KRTAP5-9	3846	hgsc.bcm.edu	37	chr11	71259818	71259818	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccagctgctgtgcacccGtctactgctgcaagcccgtg					rs146869772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71259818G>A	ENST00000528743.2	+	1	353	c.115G>A	c.(115-117)Gtc>Atc	p.V39I		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	39	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.V39I(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGTGCACCCGTCTACTGCTG	0.667													g|||	10	0.00199681	0.0068	0.0014	5008	,	,		17781	0.0		0.0	False		,,,				2504	0.0				p.V39I		Atlas-SNP	.											KRTAP5-9,caecum,carcinoma,0,1	KRTAP5-9	19	1	1	Substitution - Missense(1)	large_intestine(1)	c.G115A						PASS	.	G	ILE/VAL	37,4363		0,37,2163	80	91	87		115	1.6	0	11	dbSNP_134	87	0,8588		0,0,4294	no	missense	KRTAP5-9	NM_005553.3	29	0,37,6457	AA,AG,GG		0.0,0.8409,0.2849	possibly-damaging	39/170	71259818	37,12951	2200	4294	6494	SO:0001583	missense	3846	exon1			GCACCCGTCTACT	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.115G>A	11.37:g.71259818G>A	ENSP00000431443:p.Val39Ile	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	324	145	0.447531	NM_005553	Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	CCDS53677.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	N	4.044	0.005754	0.07866	0.008409	0.0	ENSG00000254997	ENST00000528743	T	0.03745	3.82	1.57	1.57	0.23409	.	.	.	.	.	T	0.04003	0.0112	L	0.42487	1.325	0.09310	N	1	P	0.51537	0.946	P	0.50270	0.636	T	0.38067	-0.9678	9	0.49607	T	0.09	.	6.6099	0.22745	0.0:0.0:1.0:0.0	.	39	P26371	KRA59_HUMAN	I	39	ENSP00000431443:V39I	ENSP00000431443:V39I	V	+	1	0	KRTAP5-9	70937466	0.000000	0.05858	0.015000	0.15790	0.167000	0.22549	-0.373000	0.07494	1.189000	0.43028	0.442000	0.29010	GTC	G|0.999;A|0.001	0.001	strong		0.667	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			A	71259818	G	A	71259818	3	1	22	1	0	0	0	0	1	0	0	0	8568	1145	40	1	117	1	KRTAP5-9	11	71259818	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109	71259818	63746698	6307	11415	236	2								
KRTAP5-9	3846	hgsc.bcm.edu	37	chr11	71259822	71259822	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgctgtgcacccgtctActgctgcaagcccgtgtgct					rs10792769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71259822A>G	ENST00000528743.2	+	1	357	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	40	8 X 4 AA repeats of C-C-X-P.		Y -> C (in dbSNP:rs10792769). {ECO:0000269|Ref.3}.		epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCACCCGTCTACTGCTGCAAG	0.662													N|||	989	0.197484	0.4062	0.1455	5008	,	,		17872	0.1329		0.1362	False		,,,				2504	0.0818				p.Y40C		Atlas-SNP	.											.	KRTAP5-9	19	.	0			c.A119G						PASS	.	G	CYS/TYR	1598,2802		316,966,918	83	94	90		119	1.6	0.9	11	dbSNP_120	90	1063,7525		68,927,3299	no	missense	KRTAP5-9	NM_005553.3	194	384,1893,4217	GG,GA,AA		12.3777,36.3182,20.4881	benign	40/170	71259822	2661,10327	2200	4294	6494	SO:0001583	missense	3846	exon1			CCGTCTACTGCTG	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.119A>G	11.37:g.71259822A>G	ENSP00000431443:p.Tyr40Cys	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	329	327	0.993921	NM_005553	Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	CCDS53677.1	400	0.18315018315018314	178	0.3617886178861789	51	0.1408839779005525	70	0.12237762237762238	101	0.13324538258575197	N	6.676	0.493371	0.12702	0.363182	0.123777	ENSG00000254997	ENST00000528743	T	0.02579	4.24	1.57	1.57	0.23409	.	.	.	.	.	T	0.00012	0.0000	N	0.00004	-3.37	0.48236	P	3.8800000000005497E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.42982	-0.9419	8	0.02654	T	1	.	4.1148	0.10076	0.3975:0.0:0.6025:0.0	rs10792769;rs10792769	40	P26371	KRA59_HUMAN	C	40	ENSP00000431443:Y40C	ENSP00000431443:Y40C	Y	+	2	0	KRTAP5-9	70937470	0.994000	0.37717	0.931000	0.37212	0.616000	0.37450	0.754000	0.26390	0.236000	0.21180	-0.391000	0.06502	TAC	A|0.819;G|0.181	0.181	strong		0.662	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			G	71259822	A	G	71259822	3	3	22	1	0	0	0	0	1	0	0	0	8568	391	14	2	121	2	KRTAP5-9	11	71259822	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	71259822	63746694	6308	11416	236	2								
KRTAP5-10	387273	hgsc.bcm.edu	37	chr11	71276876	71276876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcttgtgggggctccaaAgggggctgtggttcctgtgg	19	8	1	0	rs12788123		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																					p.K81K		Atlas-SNP	.											KRTAP5-10,NS,carcinoma,0,1	KRTAP5-10	37	1	1	Substitution - coding silent(1)	endometrium(1)	c.A243G						scavenged	.						51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273	exon1			CTCCAAAGGGGGC	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G		Somatic	162	20	0.123457		WXS	Illumina HiSeq	Phase_I	177	24	0.135593	NM_001012710	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																			A|0.998;G|0.002	0.002	weak		0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71276876	A	G	71276876	2	3	22	1	0	0	0	0	0	0	0	1	8559	69	3	3		3	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17054	71276876	63729640	6309	11417										
KRTAP5-10	387273	hgsc.bcm.edu	37	chr11	71276909	71276909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgtgggggctccaagggGggctgtggctcctgtggggg	21	9	0	0	rs71272260|rs12289712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71276909G>A	ENST00000398531.1	+	1	301	c.276G>A	c.(274-276)ggG>ggA	p.G92G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	92	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGGCTGTGGCT	0.677																																					p.G92G		Atlas-SNP	.											KRTAP5-10,rectum,carcinoma,0,3	KRTAP5-10	37	3	0			c.G276A						scavenged	.						35	54	47					11																	71276909		2068	4190	6258	SO:0001819	synonymous_variant	387273	exon1			CAAGGGGGGCTGT	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.276G>A	11.37:g.71276909G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	177	34	0.19209	NM_001012710	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																			A|0.153;G|0.847	0.153	strong		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			A	71276909	G	A	71276909	2	1	22	1	0	0	0	0	0	0	0	1	8559	1219	43	2		2	KRTAP5-10	11	71276909	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33	71276909	63729607	6310	11418										
FAM86C	55199	hgsc.bcm.edu	37	chr11	71507186	71507186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccgtctgcaacccagagaTgtgccagctgttcaccaccg	9	15	2	1	rs74830167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71507186T>C	ENST00000359244.4	+	4	408	c.385T>C	c.(385-387)Tgt>Cgt	p.C129R	FAM86C1_ENST00000426628.2_Missense_Mutation_p.C122R|FAM86C1_ENST00000346333.6_Missense_Mutation_p.C95R	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	129										lung(1)	1						AACCCAGAGATGTGCCAGCTG	0.632																																					p.C129R		Atlas-SNP	.											FAM86C1_ENST00000426628,brain,glioma,0,3	FAM86C1	27	3	0			c.T385C						scavenged	.						117	127	124					11																	71507186		2200	4293	6493	SO:0001583	missense	55199	exon4			CAGAGATGTGCCA	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.385T>C	11.37:g.71507186T>C	ENSP00000352182:p.Cys129Arg	Somatic	238	2	0.00840336		WXS	Illumina HiSeq	Phase_I	295	22	0.0745763	NM_018172	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.281242	0.01398	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.17213	2.34;2.58;2.34;2.29	1.49	1.49	0.22878	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.30869	N	0.732718	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41716	-0.9493	8	0.06236	T	0.91	.	4.112	0.10063	0.0:0.7698:0.0:0.2302	.	122;95;129	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	R	95;129;122;95	ENSP00000325662:C95R;ENSP00000352182:C129R;ENSP00000391329:C122R;ENSP00000436598:C95R	ENSP00000325662:C95R	C	+	1	0	FAM86C1	71184834	0.987000	0.35691	0.038000	0.18304	0.002000	0.02628	3.044000	0.49830	0.199000	0.20427	-1.160000	0.01791	TGT	T|0.940;C|0.060	0.060	strong		0.632	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		C	71507186	T	C	71507186	3	2	22	1	0	0	0	0	1	0	0	0	5646	1464	51	2	484	2	FAM86C	11	71507186	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	230277	71507186	63499330	6311	11419										
IL18BP	10068	hgsc.bcm.edu	37	chr11	71711438	71711438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcctgtgtgcccacgtcGtcactctcctggtcagagcc	10	16	3	1	rs376290357		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71711438G>A	ENST00000393703.4	+	3	607	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	IL18BP_ENST00000393707.4_Missense_Mutation_p.V24I|IL18BP_ENST00000531053.1_Missense_Mutation_p.V24I|IL18BP_ENST00000260049.5_Missense_Mutation_p.V24I|IL18BP_ENST00000393705.4_Missense_Mutation_p.V24I|IL18BP_ENST00000337131.5_Missense_Mutation_p.V24I|IL18BP_ENST00000404792.1_Missense_Mutation_p.V24I|IL18BP_ENST00000497194.2_Missense_Mutation_p.V24I	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGCCCACGTCGTCACTCTCCT	0.617																																					p.V24I		Atlas-SNP	.											.	IL18BP	15	.	0			c.G70A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	3,4255		0,3,2126	98	107	104		70,70,70,70,70,70,70	-8.2	0	11		104	0,8508		0,0,4254	no	missense,missense,missense,missense,missense,missense,missense	IL18BP	NM_001039659.1,NM_001039660.1,NM_001145055.1,NM_001145057.1,NM_005699.3,NM_173042.2,NM_173044.2	29,29,29,29,29,29,29	0,3,6380	AA,AG,GG		0.0,0.0705,0.0235	benign,benign,benign,benign,benign,benign,benign	24/195,24/195,24/116,24/195,24/200,24/195,24/164	71711438	3,12763	2129	4254	6383	SO:0001583	missense	10068	exon3			CACGTCGTCACTC	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.70G>A	11.37:g.71711438G>A	ENSP00000377306:p.Val24Ile	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	85	44	0.517647	NM_001145057	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	0	-2.676183	0.00102	7.05E-4	0.0	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049;ENST00000393707	T;T;T;T;T;T;T	0.35236	1.35;1.32;1.35;1.35;1.32;1.35;1.35	4.08	-8.16	0.01061	.	1.862160	0.02902	N	0.135517	T	0.13329	0.0323	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.20273	-1.0280	10	0.06099	T	0.92	-2.0645	7.9891	0.30229	0.1145:0.1776:0.6198:0.0881	.	24;24;24	O95998-3;G3V1C5;O95998	.;.;I18BP_HUMAN	I	24	ENSP00000377306:V24I;ENSP00000434717:V24I;ENSP00000377308:V24I;ENSP00000338723:V24I;ENSP00000434835:V24I;ENSP00000384212:V24I;ENSP00000260049:V24I	ENSP00000260049:V24I	V	+	1	0	IL18BP	71389086	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-2.169000	0.01269	-3.683000	0.00121	-0.340000	0.08031	GTC	.	.	weak		0.617	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		A	71711438	G	A	71711438	3	1	22	1	0	0	0	0	1	0	0	0	7646	1145	40	1	76	1	IL18BP	11	71711438	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	204252	71711438	63295078	6312	11420										
NUMA1	4926	hgsc.bcm.edu	37	chr11	71718413	71718413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctaccttggggggcaggCgctgggagataggtgaggct	18	7	1	2	rs149588226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71718413C>T	ENST00000393695.3	-	21	5616	c.5285G>A	c.(5284-5286)cGc>cAc	p.R1762H	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1748H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R626H	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGGGGCAGGCGCTGGGAGAT	0.622			T	RARA	APL								C|||	14	0.00279553	0.0106	0.0	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.0				p.R1762H		Atlas-SNP	.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1	142	.	0			c.G5285A						PASS	.	C	HIS/ARG	72,4328	63.5+/-100.7	1,70,2129	40	43	42		5285	4.6	1	11	dbSNP_134	42	0,8586		0,0,4293	yes	missense	NUMA1	NM_006185.2	29	1,70,6422	TT,TC,CC		0.0,1.6364,0.5544	probably-damaging	1762/2116	71718413	72,12914	2200	4293	6493	SO:0001583	missense	4926	exon21			GGCAGGCGCTGGG	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5285G>A	11.37:g.71718413C>T	ENSP00000377298:p.Arg1762His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	85	28	0.329412	NM_006185		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	4|4	0.0018315018315018315|0.0018315018315018315	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	20.5|20.5	3.994037|3.994037	0.74703|0.74703	0.016364|0.016364	0.0|0.0	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.21543	.|2.0;2.46;2.46	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.56097	.|D	.|0.000035	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.24115|0.24115	0.695|0.695	0.40559|0.40559	D|D	0.981196|0.981196	.|D;D;D;D	.|0.89917	.|0.999;0.999;0.999;1.0	.|P;D;P;D	.|0.67231	.|0.897;0.95;0.855;0.938	T|T	0.01587|0.01587	-1.1318|-1.1318	5|10	.|0.52906	.|T	.|0.07	.|.	6.077|6.077	0.19921|0.19921	0.0:0.7688:0.0:0.2312|0.0:0.7688:0.0:0.2312	.|.	.|1768;1748;1762;626	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	T|H	611|626;1748;1762;1311;735	.|ENSP00000260051:R626H;ENSP00000351851:R1748H;ENSP00000377298:R1762H	.|ENSP00000260051:R626H	A|R	-|-	1|2	0|0	NUMA1|NUMA1	71396061|71396061	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	1.062000|1.062000	0.30555|0.30555	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCC|CGC	C|0.995;T|0.005	0.005	strong		0.622	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71718413	C	T	71718413	3	4	22	1	0	0	0	0	1	0	0	0	10750	768	27	1	1090	1	NUMA1	11	71718413	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6975	71718413	63288103	6313	11421										
NUMA1	4926	hgsc.bcm.edu	37	chr11	71725612	71725612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcagccgttccagctcAttgcccatctgctctgcctc	8	19	3	0	rs142372284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71725612A>G	ENST00000393695.3	-	15	3268	c.2937T>C	c.(2935-2937)aaT>aaC	p.N979N	NUMA1_ENST00000358965.6_Silent_p.N979N|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTTCCAGCTCATTGCCCATCT	0.672			T	RARA	APL								A|||	14	0.00279553	0.0106	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0				p.N979N		Atlas-SNP	.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1	142	.	0			c.T2937C						PASS	.	A		71,4329	59.3+/-96.0	1,69,2130	66	73	71		2937	-6	0.9	11	dbSNP_134	71	0,8586		0,0,4293	no	coding-synonymous	NUMA1	NM_006185.2		1,69,6423	GG,GA,AA		0.0,1.6136,0.5467		979/2116	71725612	71,12915	2200	4293	6493	SO:0001819	synonymous_variant	4926	exon15			CAGCTCATTGCCC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2937T>C	11.37:g.71725612A>G		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	87	39	0.448276	NM_006185		Silent	SNP	ENST00000393695.3	37	CCDS31633.1																																																																																			A|0.995;G|0.005	0.005	strong		0.672	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			G	71725612	A	G	71725612	2	3	22	1	0	0	0	0	0	0	0	1	10750	214	8	2		2	NUMA1	11	71725612	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7199	71725612	63280904	6314	11422										
LRTOMT	220074	hgsc.bcm.edu	37	chr11	71806515	71806515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacagctgaagtctggaaAcgcatgaacatcaagcccaa	8	12	2	2	rs150245488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71806515A>G	ENST00000289488.2	+	6	906	c.528A>G	c.(526-528)aaA>aaG	p.K176K	LRTOMT_ENST00000539587.1_Missense_Mutation_p.N42S|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000423494.2_Silent_p.K158K|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000447974.1_Intron|LAMTOR1_ENST00000539797.1_5'Flank|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.K176K|LRTOMT_ENST00000539271.1_Missense_Mutation_p.N42S|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000541614.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000440313.2_Intron|LRTOMT_ENST00000435085.1_Intron	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	176						cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						AAGTCTGGAAACGCATGAACA	0.537													A|||	14	0.00279553	0.0106	0.0	5008	,	,		20529	0.0		0.0	False		,,,				2504	0.0				p.K176K		Atlas-SNP	.											.	LRTOMT	20	.	0			c.A528G						PASS	.	A	,,,	72,4328	64.7+/-102.0	1,70,2129	96	69	78		,,474,528	0.6	1	11	dbSNP_134	78	0,8586		0,0,4293	no	intron,intron,coding-synonymous,coding-synonymous	LRTOMT	NM_001145307.2,NM_001145308.2,NM_001205138.1,NM_145309.3	,,,	1,70,6422	GG,GA,AA		0.0,1.6364,0.5544	,,,	,,158/175,176/193	71806515	72,12914	2200	4293	6493	SO:0001819	synonymous_variant	220074	exon6			CTGGAAACGCATG		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"leucine rich repeat containing 51", "deafness, autosomal recessive 63"	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.528A>G	11.37:g.71806515A>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	149	81	0.543624	NM_145309	B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Silent	SNP	ENST00000289488.2	37	CCDS8208.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	14.26	2.483004	0.44147	0.016364	0.0	ENSG00000184154	ENST00000539271;ENST00000539587	.	.	.	5.9	0.652	0.17823	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58446	-0.7635	5	0.87932	D	0	-16.0144	8.9883	0.36008	0.4707:0.0:0.5292:0.0	.	.	.	.	S	42	.	ENSP00000442267:N42S	N	+	2	0	LRTOMT	71484163	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.340000	0.19892	0.072000	0.16694	0.496000	0.49642	AAC	A|0.995;G|0.005	0.005	strong		0.537	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309		G	71806515	A	G	71806515	2	3	22	1	0	0	0	0	0	0	0	1	9046	40	2	2		2	LRTOMT	11	71806515	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	80903	71806515	63200001	6315	11423										
LRTOMT	55004	hgsc.bcm.edu	37	chr11	71817250	71817250	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgagccacatggggcctGtcaaaggtcagtgttcccta	11	11	2	1	rs181092713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71817250G>A	ENST00000278671.5	-	0	0				snoU13_ENST00000459046.1_RNA|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000435085.1_Missense_Mutation_p.V118I|LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000307198.7_Missense_Mutation_p.V118I|LRTOMT_ENST00000419228.1_Missense_Mutation_p.V78I|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000545249.1_5'Flank	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CATGGGGCCTGTCAAAGGTCA	0.562													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0				p.V118I		Atlas-SNP	.											.	LRTOMT	20	.	0			c.G352A						PASS	.	G	ILE/VAL	21,1363		0,21,671	35	38	37		352	1.4	1	11		37	0,3182		0,0,1591	no	missense	LRTOMT	NM_001145308.2	29	0,21,2262	AA,AG,GG		0.0,1.5173,0.4599	benign	118/292	71817250	21,4545	692	1591	2283	SO:0001631	upstream_gene_variant	220074	exon7			GGGCCTGTCAAAG	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817250G>A	Exception_encountered	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	15	6	0.4	NM_001145309	Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	CCDS8209.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	13.30	2.195071	0.38806	0.015173	0.0	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	T;T;T	0.21734	1.99;1.99;1.99	4.59	1.43	0.22495	.	.	.	.	.	T	0.05364	0.0142	N	0.21240	0.645	0.21445	N	0.99969	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.26573	-1.0099	9	0.38643	T	0.18	-3.0892	2.2276	0.03988	0.1802:0.2893:0.404:0.1265	.	118;78	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	I	78;118;118	ENSP00000392233:V78I;ENSP00000409789:V118I;ENSP00000305742:V118I	ENSP00000305742:V78I	V	+	1	0	LRTOMT	71494898	0.617000	0.27043	0.999000	0.59377	0.980000	0.70556	1.049000	0.30392	0.642000	0.30620	0.462000	0.41574	GTC	G|0.998;A|0.002	0.002	strong		0.562	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396733.1	NM_017907		A	71817250	G	A	71817250	1	1	22	0	1	0	0	0	0	0	0	0	9046	1377	48	2		2	LRTOMT	11	71817250	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10735	71817250	63189266	6316	11424										
C11orf51	25906	hgsc.bcm.edu	37	chr11	71821236	71821236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcttcactatcctcatcAtcttcatcatcctcttcttc	0	17	9	0	rs17161980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71821236A>G	ENST00000227618.4	-	5	441	c.216T>C	c.(214-216)gaT>gaC	p.D72D	ANAPC15_ENST00000535503.1_Silent_p.D72D|ANAPC15_ENST00000543587.1_Silent_p.D72D|ANAPC15_ENST00000545944.1_Silent_p.D72D|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000542531.1_Silent_p.D72D|ANAPC15_ENST00000538919.1_Silent_p.D72D|ANAPC15_ENST00000535234.1_Silent_p.D72D|ANAPC15_ENST00000545680.1_Silent_p.D72D|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538393.1_Silent_p.D72D|ANAPC15_ENST00000543015.1_5'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000543050.1_Silent_p.D72D	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	72	Asp-rich.				mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											tatcctcatcatcttcatcat	0.498													g|||	873	0.174321	0.208	0.1974	5008	,	,		23194	0.2242		0.0596	False		,,,				2504	0.1789				p.D72D		Atlas-SNP	.											.	.	.	.	0			c.T216C						PASS	.	G	,	819,3581	749.0+/-412.0	71,677,1452	329	281	297		,216	-5.3	0.5	11	dbSNP_123	297	451,8135	798.5+/-407.4	13,425,3855	no	utr-3,coding-synonymous	C11orf51,LRTOMT	NM_001145308.2,NM_014042.2	,	84,1102,5307	GG,GA,AA		5.2527,18.6136,9.7798	,	,72/122	71821236	1270,11716	2200	4293	6493	SO:0001819	synonymous_variant	25906	exon5			CTCATCATCTTCA	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.216T>C	11.37:g.71821236A>G		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	190	96	0.505263	NM_014042	G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	CCDS8210.1																																																																																			A|0.864;G|0.136	0.136	strong		0.498	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		G	71821236	A	G	71821236	2	3	22	1	0	0	0	0	0	0	0	1	1646	214	8	2		2	C11orf51	11	71821236	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3986	71821236	63185280	6317	11425										
INPPL1	3636	hgsc.bcm.edu	37	chr11	71941212	71941212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccaagattgggaagtcAcagaagttcacgctgagcgt	12	9	2	4	rs2276048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71941212A>G	ENST00000298229.2	+	9	1191	c.987A>G	c.(985-987)tcA>tcG	p.S329S	INPPL1_ENST00000541756.1_Silent_p.S87S|INPPL1_ENST00000538751.1_Silent_p.S87S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	329					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGGAAGTCACAGAAGTTCA	0.617													G|||	1814	0.36222	0.5121	0.2622	5008	,	,		20209	0.3403		0.2087	False		,,,				2504	0.411				p.S329S		Atlas-SNP	.											.	INPPL1	120	.	0			c.A987G						PASS	.	G		2147,2253		531,1085,584	67	65	66		987	-10.8	0.7	11	dbSNP_100	66	1493,7093		121,1251,2921	no	coding-synonymous	INPPL1	NM_001567.3		652,2336,3505	GG,GA,AA		17.3888,48.7955,28.0302		329/1259	71941212	3640,9346	2200	4293	6493	SO:0001819	synonymous_variant	3636	exon9			GAAGTCACAGAAG	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.987A>G	11.37:g.71941212A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_001567	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																			G|0.306;A|0.694	0.306	strong		0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71941212	A	G	71941212	2	3	22	1	0	0	0	0	0	0	0	1	7761	146	6	2		2	INPPL1	11	71941212	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	119976	71941212	63065304	6318	11426										
INPPL1	3636	hgsc.bcm.edu	37	chr11	71945332	71945332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttctcctcagggctctcAaagacttcagaccaggccta	7	15	4	2	rs61736312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71945332A>G	ENST00000298229.2	+	20	2424	c.2220A>G	c.(2218-2220)tcA>tcG	p.S740S	INPPL1_ENST00000541756.1_Silent_p.S498S|INPPL1_ENST00000538751.1_Silent_p.S498S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	740					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGGGCTCTCAAAGACTTCAG	0.532													G|||	790	0.157748	0.3018	0.1196	5008	,	,		19677	0.1508		0.0746	False		,,,				2504	0.0828				p.S740S		Atlas-SNP	.											.	INPPL1	120	.	0			c.A2220G						PASS	.	G		1168,3232		153,862,1185	74	63	67		2220	-11	0.3	11	dbSNP_129	67	523,8063		13,497,3783	no	coding-synonymous	INPPL1	NM_001567.3		166,1359,4968	GG,GA,AA		6.0913,26.5455,13.0217		740/1259	71945332	1691,11295	2200	4293	6493	SO:0001819	synonymous_variant	3636	exon20			GCTCTCAAAGACT	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2220A>G	11.37:g.71945332A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	149	61	0.409396	NM_001567	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																			A|0.867;G|0.133	0.133	strong		0.532	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71945332	A	G	71945332	2	3	22	1	0	0	0	0	0	0	0	1	7761	117	5	2		2	INPPL1	11	71945332	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4120	71945332	63061184	6319	11427										
INPPL1	3636	hgsc.bcm.edu	37	chr11	71948536	71948536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccggggccgtggtggggCtgaggcccgtggcccaccac	19	14	0	1	rs11548491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:71948536C>G	ENST00000298229.2	+	26	3452	c.3248C>G	c.(3247-3249)gCt>gGt	p.A1083G	INPPL1_ENST00000541756.1_Missense_Mutation_p.A841G|INPPL1_ENST00000538751.1_Missense_Mutation_p.A841G|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1083	Pro-rich.		A -> G (in dbSNP:rs11548491). {ECO:0000269|PubMed:15687335}.		actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTGGTGGGGCTGAGGCCCGT	0.687													G|||	784	0.15655	0.298	0.1196	5008	,	,		15497	0.1498		0.0746	False		,,,				2504	0.0828				p.A1083G		Atlas-SNP	.											.	INPPL1	120	.	0			c.C3248G						PASS	.	G	GLY/ALA	1109,3287		153,803,1242	17	18	18		3248	2.6	1	11	dbSNP_120	18	501,8083		13,475,3804	yes	missense	INPPL1	NM_001567.3	60	166,1278,5046	GG,GC,CC		5.8364,25.2275,12.4037	benign	1083/1259	71948536	1610,11370	2198	4292	6490	SO:0001583	missense	3636	exon26			GTGGGGCTGAGGC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3248C>G	11.37:g.71948536C>G	ENSP00000298229:p.Ala1083Gly	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	158	78	0.493671	NM_001567	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	320	0.14652014652014653	142	0.2886178861788618	53	0.1464088397790055	70	0.12237762237762238	55	0.07255936675461741	N	2.288	-0.363144	0.05103	0.252275	0.058364	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	D;D;D;T	0.96619	-2.95;-4.07;-4.07;1.47	4.66	2.62	0.31277	.	0.242758	0.33732	N	0.004607	T	0.00039	0.0001	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.12630	-1.0540	9	0.19590	T	0.45	.	9.1488	0.36951	0.0:0.2732:0.5708:0.156	rs11548491;rs17847211;rs61512395	1083	O15357	SHIP2_HUMAN	G	1083;841;841;96	ENSP00000298229:A1083G;ENSP00000446360:A841G;ENSP00000444619:A841G;ENSP00000441094:A96G	ENSP00000298229:A1083G	A	+	2	0	INPPL1	71626184	0.992000	0.36948	0.988000	0.46212	0.014000	0.08584	0.104000	0.15313	0.594000	0.29761	-1.089000	0.02181	GCT	C|0.871;G|0.129	0.129	strong		0.687	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71948536	C	G	71948536	3	3	22	1	0	0	0	0	1	0	0	0	7761	797	28	4	3350	4	INPPL1	11	71948536	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3204	71948536	63057980	6320	11428										
CLPB	81570	hgsc.bcm.edu	37	chr11	72040784	72040784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctcagaagcttcatcacTtccccttctcgggcataatc	6	15	4	1	rs36049191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:72040784T>C	ENST00000294053.3	-	7	1103	c.930A>G	c.(928-930)gaA>gaG	p.E310E	CLPB_ENST00000437826.2_Silent_p.E265E|CLPB_ENST00000340729.5_Silent_p.E251E|CLPB_ENST00000538039.1_Silent_p.E280E|CLPB_ENST00000543042.1_Silent_p.E109E	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	310					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GCTTCATCACTTCCCCTTCTC	0.493													T|||	678	0.135383	0.27	0.0937	5008	,	,		19379	0.1577		0.0398	False		,,,				2504	0.0583				p.E310E		Atlas-SNP	.											.	CLPB	45	.	0			c.A930G						PASS	.	T		945,3455	360.9+/-315.4	94,757,1349	102	96	98		930	2.4	1	11	dbSNP_126	98	265,8321	102.9+/-164.1	2,261,4030	no	coding-synonymous	CLPB	NM_030813.3		96,1018,5379	CC,CT,TT		3.0864,21.4773,9.3177		310/708	72040784	1210,11776	2200	4293	6493	SO:0001819	synonymous_variant	81570	exon7			CATCACTTCCCCT	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.930A>G	11.37:g.72040784T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_030813	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	CCDS8215.1	257	0.11767399267399267	116	0.23577235772357724	35	0.09668508287292818	79	0.1381118881118881	27	0.03562005277044855	T	1.116	-0.656719	0.03480	0.214773	0.030864	ENSG00000162129	ENST00000544382	.	.	.	5.43	2.39	0.29439	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999975282	.	.	.	.	.	.	T	0.10941	-1.0608	3	.	.	.	-22.2024	8.4064	0.32616	0.0:0.6921:0.0:0.3079	rs36049191;rs60307678	.	.	.	R	88	.	.	K	-	2	0	CLPB	71718432	0.974000	0.33945	1.000000	0.80357	0.105000	0.19272	0.048000	0.14078	0.195000	0.20347	-0.290000	0.09829	AAG	C|0.101;T|0.899	0.101	strong		0.493	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		C	72040784	T	C	72040784	2	2	22	1	0	0	0	0	0	0	0	1	3551	1606	56	3		3	CLPB	11	72040784	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	92248	72040784	62965732	6321	11429										
ARAP1	116985	hgsc.bcm.edu	37	chr11	72403832	72403832	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctccacggcctctggctcTgtttgatagaggatcagggt	13	11	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:72403832T>C	ENST00000393609.3	-	30	4157		c.e30-2		ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Splice_Site|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000393605.3_Splice_Site|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000359373.5_Intron	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTCTGGCTCTGTTTGATAGA	0.587																																					.	Ovarian(102;1198 1520 13195 17913 37529)	Atlas-SNP	.											.	ARAP1	168	.	0			c.3220-2A>G						PASS	.						46	46	46					11																	72403832		2200	4293	6493	SO:0001630	splice_region_variant	116985	exon29			TGGCTCTGTTTGA	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3955-2A>G	11.37:g.72403832T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_015242	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Splice_Site	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.491402	0.64074	.	.	ENSG00000186635	ENST00000393605;ENST00000334211;ENST00000393609	.	.	.	5.73	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4138	0.32659	0.1738:0.0:0.0:0.8262	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP1	72081480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.927000	0.40094	2.184000	0.69523	0.448000	0.29417	.	.	.	none		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	Intron	C	72403832	T	C	72403832	5	2	22	1	0	0	0	0	0	0	1	0	838	1594	55	3	423	3	ARAP1	11	72403832	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	363048	72403832	62602684	6322	11430										
ARHGEF17	9828	hgsc.bcm.edu	37	chr11	73078685	73078685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccttggcaccgaggccccGcccctgccaggcctaaaatg	10	19	0	0	rs143114785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73078685G>A	ENST00000263674.3	+	21	6402	c.6052G>A	c.(6052-6054)Gcc>Acc	p.A2018T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2018					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						CCGAGGCCCCGCCCCTGCCAG	0.647													G|||	42	0.00838658	0.031	0.0014	5008	,	,		16959	0.0		0.0	False		,,,				2504	0.0				p.A2018T		Atlas-SNP	.											.	ARHGEF17	117	.	0			c.G6052A						PASS	.	G	THR/ALA	112,4288	86.8+/-125.4	0,112,2088	69	71	70		6052	-2.7	0	11	dbSNP_134	70	0,8586		0,0,4293	yes	missense	ARHGEF17	NM_014786.3	58	0,112,6381	AA,AG,GG		0.0,2.5455,0.8625	benign	2018/2064	73078685	112,12874	2200	4293	6493	SO:0001583	missense	9828	exon21			GGCCCCGCCCCTG	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.6052G>A	11.37:g.73078685G>A	ENSP00000263674:p.Ala2018Thr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	4.409	0.075520	0.08485	0.025455	0.0	ENSG00000110237	ENST00000263674	T	0.57436	0.4	5.42	-2.69	0.06022	.	0.281147	0.33753	N	0.004585	T	0.07728	0.0194	N	0.02830	-0.485	0.18873	N	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.15499	T	0.54	-2.6535	11.6716	0.51406	0.5979:0.0:0.4021:0.0	.	2018	Q96PE2	ARHGH_HUMAN	T	2018	ENSP00000263674:A2018T	ENSP00000263674:A2018T	A	+	1	0	ARHGEF17	72756333	0.001000	0.12720	0.004000	0.12327	0.145000	0.21501	-0.227000	0.09126	-0.943000	0.03691	-0.459000	0.05422	GCC	G|0.991;A|0.009	0.009	strong		0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73078685	G	A	73078685	3	1	22	1	0	0	0	0	1	0	0	0	900	1087	38	1	6134	1	ARHGEF17	11	73078685	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	674853	73078685	61927831	6323	11431										
DNAJB13	374407	hgsc.bcm.edu	37	chr11	73670645	73670645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaactggttacgtcttccaTggcaaacctgaaaaggtgtt	9	9	1	1	rs653263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73670645T>C	ENST00000339764.1	+	3	1030	c.279T>C	c.(277-279)caT>caC	p.H93H		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	93					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACGTCTTCCATGGCAAACCTG	0.507													t|||	3010	0.601038	0.8971	0.5663	5008	,	,		15368	0.4534		0.4751	False		,,,				2504	0.5072				p.H93H		Atlas-SNP	.											.	DNAJB13	28	.	0			c.T279C						PASS	.			3532,868	744.3+/-411.5	1428,676,96	113	97	102		279	-8.4	0.2	11	dbSNP_83	102	3949,4637	549.7+/-385.6	918,2113,1262	no	coding-synonymous	DNAJB13	NM_153614.2		2346,2789,1358	CC,CT,TT		45.9935,19.7273,42.3918		93/317	73670645	7481,5505	2200	4293	6493	SO:0001819	synonymous_variant	374407	exon3			CTTCCATGGCAAA	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"Heat shock proteins / DNAJ (HSP40)"	30718	protein-coding gene	gene with protein product	"radial spoke 16 homolog A (Chlamydomonas)"	610263	"DnaJ (Hsp40) related, subfamily B, member 13"				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.279T>C	11.37:g.73670645T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_153614	B3LEP4|Q8IZW5	Silent	SNP	ENST00000339764.1	37	CCDS8227.1																																																																																			T|0.418;C|0.582	0.582	strong		0.507	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		C	73670645	T	C	73670645	2	2	22	1	0	0	0	0	0	0	0	1	4618	1461	51	2		2	DNAJB13	11	73670645	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	591960	73670645	61335871	6324	11432										
UCP2	7351	hgsc.bcm.edu	37	chr11	73689104	73689104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgcggtactgggcgctgGctgtagcgcgcactggcccc	15	16	0	0	rs660339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73689104G>A	ENST00000310473.3	-	4	1006	c.164C>T	c.(163-165)gCc>gTc	p.A55V	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.A55V	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	55			A -> V (in dbSNP:rs660339). {ECO:0000269|PubMed:9133562, ECO:0000269|Ref.4, ECO:0000269|Ref.7, ECO:0000269|Ref.8}.		aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CTGGGCGCTGGCTGTAGCGCG	0.617													g|||	2084	0.416134	0.447	0.4409	5008	,	,		18773	0.4177		0.4046	False		,,,				2504	0.3671				p.A55V	Colon(191;388 2040 43557 45622 48925)	Atlas-SNP	.											.	UCP2	24	.	0			c.C164T	GRCh37	CM994639	UCP2	M	rs660339	PASS	.	G	VAL/ALA	1923,2477	547.2+/-377.2	391,1141,668	38	42	41		164	5.1	1	11	dbSNP_83	41	3503,5083	510.0+/-377.4	717,2069,1507	yes	missense	UCP2	NM_003355.2	64	1108,3210,2175	AA,AG,GG		40.799,43.7045,41.7835	benign	55/310	73689104	5426,7560	2200	4293	6493	SO:0001583	missense	7351	exon4			GCGCTGGCTGTAG	U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.164C>T	11.37:g.73689104G>A	ENSP00000312029:p.Ala55Val	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_003355	Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	943	0.4317765567765568	208	0.42276422764227645	160	0.4419889502762431	258	0.45104895104895104	317	0.4182058047493404	G	9.072	0.997031	0.19043	0.437045	0.40799	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.80393	-1.37;-1.37;-1.37	6.07	5.14	0.70334	Mitochondrial carrier domain (2);	0.170469	0.49916	D	0.000126	T	0.00012	0.0000	N	0.13043	0.29	0.42283	P	0.007897000000000043	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.29397	-1.0013	9	0.39692	T	0.17	-31.8322	9.5193	0.39124	0.0:0.1378:0.5773:0.2849	rs660339;rs1050841;rs2228495;rs17848359;rs59652865;rs660339	55;55	F5GX45;P55851	.;UCP2_HUMAN	V	55;55;28	ENSP00000312029:A55V;ENSP00000441147:A55V;ENSP00000439951:A28V	ENSP00000312029:A55V	A	-	2	0	UCP2	73366752	0.146000	0.22672	0.974000	0.42286	0.013000	0.08279	1.934000	0.40163	1.533000	0.49186	0.655000	0.94253	GCC	G|0.573;T|0.004	.	strong		0.617	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		A	73689104	G	A	73689104	3	1	22	1	0	0	0	0	1	0	0	0	16928	1203	42	2	785	2	UCP2	11	73689104	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18459	73689104	61317412	6325	11433										
UCP3	7352	hgsc.bcm.edu	37	chr11	73717247	73717247	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtgtacacctgcttgaCggagtcatagaggccgatgc					rs2229707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73717247C>T	ENST00000314032.4	-	3	856	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	UCP3_ENST00000348534.4_Missense_Mutation_p.V102I|UCP3_ENST00000426995.2_Missense_Mutation_p.V102I	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	102			V -> I (in obesity; dbSNP:rs2229707). {ECO:0000269|PubMed:9769326}.		aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ACCTGCTTGACGGAGTCATAG	0.627													C|||	216	0.043131	0.1513	0.013	5008	,	,		19077	0.0		0.005	False		,,,				2504	0.002				p.V102I		Atlas-SNP	.											.	UCP3	31	.	0			c.G304A	GRCh37	CM981987	UCP3	M	rs2229707	PASS	.	C	ILE/VAL,ILE/VAL	524,3876	236.8+/-248.8	36,452,1712	44	43	44	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	304,304	5.8	1	11	dbSNP_98	44	12,8574	9.1+/-34.3	0,12,4281	yes	missense,missense	UCP3	NM_003356.3,NM_022803.2	29,29	36,464,5993	TT,TC,CC		0.1398,11.9091,4.1275	benign,benign	102/313,102/276	73717247	536,12450	2200	4293	6493	SO:0001583	missense	7352	exon3			GCTTGACGGAGTC	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.304G>A	11.37:g.73717247C>T	ENSP00000323740:p.Val102Ile	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_003356	O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	CCDS8229.1	81	0.03708791208791209	75	0.1524390243902439	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	15.72	2.915545	0.52546	0.119091	0.001398	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	T;T;T	0.78816	-1.21;-1.21;-1.21	5.76	5.76	0.90799	Mitochondrial carrier domain (2);	0.054467	0.64402	D	0.000001	T	0.00967	0.0032	L	0.39020	1.185	0.22933	P	0.99854677	B	0.20459	0.045	B	0.23275	0.045	T	0.24764	-1.0151	9	0.59425	D	0.04	-25.6915	19.5566	0.95351	0.0:1.0:0.0:0.0	rs2229707;rs2734830;rs2229707	102	P55916	UCP3_HUMAN	I	102	ENSP00000323740:V102I;ENSP00000343615:V102I;ENSP00000392143:V102I	ENSP00000323740:V102I	V	-	1	0	UCP3	73394895	1.000000	0.71417	0.990000	0.47175	0.261000	0.26267	5.621000	0.67743	2.724000	0.93272	0.561000	0.74099	GTC	C|0.964;T|0.036	0.036	strong		0.627	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		T	73717247	C	T	73717247	3	4	22	1	0	0	0	0	1	0	0	0	16929	536	19	1	658	1	UCP3	11	73717247	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28143	73717247	61289269	6326	11434	237	3								
UCP3	7352	hgsc.bcm.edu	37	chr11	73717254	73717254	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacacctgcttgacggagtcAtagaggccgatgcggatgga					rs1800006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73717254A>G	ENST00000314032.4	-	3	849	c.297T>C	c.(295-297)taT>taC	p.Y99Y	UCP3_ENST00000348534.4_Silent_p.Y99Y|UCP3_ENST00000426995.2_Silent_p.Y99Y	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	99					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGACGGAGTCATAGAGGCCGA	0.622													G|||	1719	0.343251	0.6445	0.1556	5008	,	,		18847	0.2808		0.2416	False		,,,				2504	0.2382				p.Y99Y		Atlas-SNP	.											.	UCP3	31	.	0			c.T297C						PASS	.	G	,	2599,1801	528.9+/-372.5	772,1055,373	44	44	44		297,297	-7.6	0.3	11	dbSNP_89	44	2091,6495	715.0+/-406.0	256,1579,2458	no	coding-synonymous,coding-synonymous	UCP3	NM_003356.3,NM_022803.2	,	1028,2634,2831	GG,GA,AA		24.3536,40.9318,36.1158	,	99/313,99/276	73717254	4690,8296	2200	4293	6493	SO:0001819	synonymous_variant	7352	exon3			GGAGTCATAGAGG	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.297T>C	11.37:g.73717254A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_003356	O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	CCDS8229.1																																																																																			A|0.651;G|0.349	0.349	strong		0.622	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		G	73717254	A	G	73717254	2	3	22	1	0	0	0	0	0	0	0	1	16929	224	8	2		2	UCP3	11	73717254	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7	73717254	61289262	6327	11435	237	3								
UCP3	7352	hgsc.bcm.edu	37	chr11	73717263	73717263	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacggagtcatagaggccGatgcggatggaggcgaagct					rs2229706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73717263G>A	ENST00000314032.4	-	3	840	c.288C>T	c.(286-288)atC>atT	p.I96I	UCP3_ENST00000348534.4_Silent_p.I96I|UCP3_ENST00000426995.2_Silent_p.I96I	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	96					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CATAGAGGCCGATGCGGATGG	0.627													G|||	34	0.00678914	0.0242	0.0029	5008	,	,		18530	0.0		0.0	False		,,,				2504	0.0				p.I96I		Atlas-SNP	.											.	UCP3	31	.	0			c.C288T						PASS	.	G	,	102,4298	80.9+/-119.3	1,100,2099	44	43	43		288,288	-4	1	11	dbSNP_98	43	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	UCP3	NM_003356.3,NM_022803.2	,	1,101,6391	AA,AG,GG		0.0116,2.3182,0.7932	,	96/313,96/276	73717263	103,12883	2200	4293	6493	SO:0001819	synonymous_variant	7352	exon3			GAGGCCGATGCGG	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.288C>T	11.37:g.73717263G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	70	39	0.557143	NM_003356	O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	CCDS8229.1																																																																																			G|0.991;A|0.009	0.009	strong		0.627	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		A	73717263	G	A	73717263	2	1	22	1	0	0	0	0	0	0	0	1	16929	1048	37	1		1	UCP3	11	73717263	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9	73717263	61289253	6328	11436	237	3								
C2CD3	26005	hgsc.bcm.edu	37	chr11	73759251	73759251	+	Splice_Site	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcaagaattcactcaccTcccaggagaggagaaatcaa					rs1632242|rs200356969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73759251T>C	ENST00000334126.7	-	28	5720	c.5494A>G	c.(5494-5496)Aga>Gga	p.R1832G	C2CD3_ENST00000313663.7_Splice_Site_p.R1832G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1832			R -> G (in dbSNP:rs1632242).		brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCACTCACCTCCCAGGAGAG	0.438													T|||	243	0.0485224	0.1778	0.0115	5008	,	,		19079	0.0		0.0	False		,,,				2504	0.0				p.R1832G		Atlas-SNP	.											.	C2CD3	288	.	0			c.A5494G						PASS	.						56	52	53					11																	73759251		2200	4293	6493	SO:0001630	splice_region_variant	26005	exon28			CTCACCTCCCAGG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5495+1A>G	11.37:g.73759251T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	99	42	0.424242	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		76|76	0.0347985347985348|0.0347985347985348	71|71	0.1443089430894309|0.1443089430894309	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	T|T	11.88|11.88	1.770709|1.770709	0.31320|0.31320	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000538361|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	.|T;T;T	.|0.15952	.|2.73;2.77;2.38	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.440230	.|0.27172	.|N	.|0.020590	T|T	0.00144|0.00144	0.0004|0.0004	M|M	0.72894|0.72894	2.215|2.215	0.34135|0.34135	P|P	0.334317|0.334317	.|P	.|0.35272	.|0.493	.|B	.|0.33620	.|0.167	T|T	0.09292|0.09292	-1.0681|-1.0681	4|9	.|0.44086	.|T	.|0.13	-5.0634|-5.0634	10.8098|10.8098	0.46540|0.46540	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs1632242;rs52837313;rs1632242|rs1632242;rs52837313;rs1632242	.|1832	.|Q4AC94-1	.|.	G|G	65|1832;1832;1813;640	.|ENSP00000334379:R1832G;ENSP00000323339:R1832G;ENSP00000388750:R640G	.|ENSP00000323339:R1832G	E|R	-|-	2|1	0|2	C2CD3|C2CD3	73436899|73436899	0.997000|0.997000	0.39634|0.39634	0.981000|0.981000	0.43875|0.43875	0.172000|0.172000	0.22775|0.22775	2.829000|2.829000	0.48128|0.48128	2.114000|2.114000	0.64651|0.64651	0.533000|0.533000	0.62120|0.62120	GAG|AGA	T|0.962;C|0.038	0.038	strong		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Missense_Mutation	C	73759251	T	C	73759251	5	2	22	1	0	0	0	0	0	0	1	0	2154	1565	54	3	413	3	C2CD3	11	73759251	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41988	73759251	61247265	6329	11437	238	2								
C2CD3	26005	hgsc.bcm.edu	37	chr11	73759254	73759254	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagaattcactcacctccCaggagaggagaaatcaagct					rs1632245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73759254C>A	ENST00000334126.7	-	28	5717	c.5491G>T	c.(5491-5493)Ggg>Tgg	p.G1831W	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1831W			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1831			G -> W (in dbSNP:rs1632245).		brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTCACCTCCCAGGAGAGGAG	0.443													C|||	243	0.0485224	0.1778	0.0115	5008	,	,		19111	0.0		0.0	False		,,,				2504	0.0				p.G1831W		Atlas-SNP	.											C2CD3_ENST00000334126,NS,carcinoma,+2,2	C2CD3	288	2	0			c.G5491T						PASS	.						58	53	55					11																	73759254		2200	4293	6493	SO:0001583	missense	26005	exon28			ACCTCCCAGGAGA	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5491G>T	11.37:g.73759254C>A	ENSP00000334379:p.Gly1831Trp	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		76|76	0.0347985347985348|0.0347985347985348	71|71	0.1443089430894309|0.1443089430894309	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.63|12.63	1.994257|1.994257	0.35226|0.35226	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160|ENST00000538361	T;T;T|.	0.14266|.	2.91;2.93;2.52|.	4.75|4.75	0.796|0.796	0.18648|0.18648	.|.	0.878366|.	0.10272|.	N|.	0.694613|.	T|T	0.00328|0.00328	0.0010|0.0010	L|L	0.47716|0.47716	1.5|1.5	0.42535|0.42535	P|P	0.006946000000000008|0.006946000000000008	D|.	0.60575|.	0.988|.	P|.	0.62089|.	0.898|.	T|T	0.09640|0.09640	-1.0665|-1.0665	9|4	0.72032|.	D|.	0.01|.	.|.	3.8081|3.8081	0.08786|0.08786	0.0:0.518:0.1836:0.2984|0.0:0.518:0.1836:0.2984	rs1632245;rs52791226;rs1632245|rs1632245;rs52791226;rs1632245	1831|.	Q4AC94-1|.	.|.	W|L	1831;1831;1812;639|64	ENSP00000334379:G1831W;ENSP00000323339:G1831W;ENSP00000388750:G639W|.	ENSP00000323339:G1831W|.	G|W	-|-	1|2	0|0	C2CD3|C2CD3	73436902|73436902	0.919000|0.919000	0.31177|0.31177	0.959000|0.959000	0.39883|0.39883	0.175000|0.175000	0.22909|0.22909	0.834000|0.834000	0.27518|0.27518	0.312000|0.312000	0.23038|0.23038	0.655000|0.655000	0.94253|0.94253	GGG|TGG	A|0.037;C|0.963	0.037	strong		0.443	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		A	73759254	C	A	73759254	3	1	22	1	0	0	0	0	1	0	0	0	2154	594	21	4	416	4	C2CD3	11	73759254	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	73759254	61247262	6330	11438	238	2								
C2CD3	26005	hgsc.bcm.edu	37	chr11	73789332	73789332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccaaagcagtgatgggccCctggtgacttctgctctttt	10	11	2	2	rs75137555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73789332C>T	ENST00000334126.7	-	23	4657	c.4431G>A	c.(4429-4431)agG>agA	p.R1477R	C2CD3_ENST00000313663.7_Silent_p.R1477R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1477					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGATGGGCCCCTGGTGACTT	0.488													C|||	74	0.0147764	0.0363	0.0029	5008	,	,		20003	0.0069		0.0129	False		,,,				2504	0.0041				p.R1477R		Atlas-SNP	.											.	C2CD3	288	.	0			c.G4431A						PASS	.	C		199,4201	123.3+/-160.7	4,191,2005	128	114	119		4431	3.5	0.8	11	dbSNP_132	119	97,8489	54.4+/-115.2	1,95,4197	no	coding-synonymous	C2CD3	NM_015531.4		5,286,6202	TT,TC,CC		1.1297,4.5227,2.2794		1477/1964	73789332	296,12690	2200	4293	6493	SO:0001819	synonymous_variant	26005	exon23			TGGGCCCCTGGTG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4431G>A	11.37:g.73789332C>T		Somatic	397	0	0		WXS	Illumina HiSeq	Phase_I	431	230	0.533643	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																				C|0.979;T|0.021	0.021	strong		0.488	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73789332	C	T	73789332	2	4	22	1	0	0	0	0	0	0	0	1	2154	622	22	2		2	C2CD3	11	73789332	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30078	73789332	61217184	6331	11439										
C2CD3	26005	hgsc.bcm.edu	37	chr11	73796683	73796683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacttggtattttcatgaTagacagcaaaaataacttct	6	7	2	3	rs1095423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73796683T>C	ENST00000334126.7	-	21	4116	c.3890A>G	c.(3889-3891)tAt>tGt	p.Y1297C	C2CD3_ENST00000313663.7_Missense_Mutation_p.Y1297C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1297			Y -> C (in dbSNP:rs1095423).		brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTTTCATGATAGACAGCAAA	0.413													T|||	239	0.0477236	0.1747	0.0115	5008	,	,		19547	0.0		0.0	False		,,,				2504	0.0				p.Y1297C		Atlas-SNP	.											.	C2CD3	288	.	0			c.A3890G						PASS	.	T	CYS/TYR	554,3846	248.7+/-256.4	40,474,1686	64	62	63		3890	5.9	1	11	dbSNP_86	63	15,8571	11.2+/-40.8	0,15,4278	yes	missense	C2CD3	NM_015531.4	194	40,489,5964	CC,CT,TT		0.1747,12.5909,4.3816	probably-damaging	1297/1964	73796683	569,12417	2200	4293	6493	SO:0001583	missense	26005	exon21			TCATGATAGACAG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3890A>G	11.37:g.73796683T>C	ENSP00000334379:p.Tyr1297Cys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	101	47	0.465347	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		75	0.034340659340659344	70	0.14227642276422764	5	0.013812154696132596	0	0.0	0	0.0	T	18.08	3.542983	0.65198	0.125909	0.001747	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.46063	0.88;0.88;0.88	5.95	5.95	0.96441	.	0.188748	0.48767	D	0.000167	T	0.00754	0.0025	M	0.68317	2.08	0.29764	P	0.835337	D	0.89917	1.0	D	0.91635	0.999	T	0.29427	-1.0012	9	0.72032	D	0.01	-12.7519	11.7864	0.52045	0.1316:0.0:0.0:0.8684	rs1095423;rs1790396;rs52807296;rs61681570;rs1095423	1297	Q4AC94-1	.	C	1297;1297;1297;105	ENSP00000334379:Y1297C;ENSP00000323339:Y1297C;ENSP00000388750:Y105C	ENSP00000323339:Y1297C	Y	-	2	0	C2CD3	73474331	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.834000	0.55798	2.268000	0.75426	0.533000	0.62120	TAT	T|0.951;C|0.049	0.049	strong		0.413	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		C	73796683	T	C	73796683	3	2	22	1	0	0	0	0	1	0	0	0	2154	1406	49	2	2045	2	C2CD3	11	73796683	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7351	73796683	61209833	6332	11440										
C2CD3	26005	hgsc.bcm.edu	37	chr11	73796917	73796917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaactgtagagcgggttccCgttcagccaaagccctgtag	11	11	1	1	rs826058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:73796917C>T	ENST00000334126.7	-	21	3882	c.3656G>A	c.(3655-3657)cGg>cAg	p.R1219Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1219	C2 1.		R -> Q (in dbSNP:rs826058). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1}.		brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCGGGTTCCCGTTCAGCCAA	0.493													T|||	1754	0.35024	0.5741	0.4135	5008	,	,		20841	0.1577		0.3091	False		,,,				2504	0.2434				p.R1219Q		Atlas-SNP	.											C2CD3_ENST00000334126,NS,adenoma,0,2	C2CD3	288	2	0			c.G3656A						PASS	.	T	GLN/ARG	2227,2173	585.0+/-386.2	561,1105,534	50	47	48		3656	4.7	1	11	dbSNP_86	48	2640,5946	685.7+/-404.1	410,1820,2063	yes	missense	C2CD3	NM_015531.4	43	971,2925,2597	TT,TC,CC		30.7477,49.3864,37.4788	benign	1219/1964	73796917	4867,8119	2200	4293	6493	SO:0001583	missense	26005	exon21			GGTTCCCGTTCAG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3656G>A	11.37:g.73796917C>T	ENSP00000334379:p.Arg1219Gln	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	131	130	0.992366	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		772	0.3534798534798535	291	0.5914634146341463	138	0.3812154696132597	97	0.16958041958041958	246	0.3245382585751979	T	2.369	-0.344862	0.05208	0.506136	0.307477	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.12147	3.16;3.15;2.71	5.8	4.66	0.58398	.	0.243070	0.42053	N	0.000770	T	0.00012	0.0000	N	0.00308	-1.67	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	8	.	.	.	-2.6174	7.8745	0.29586	0.1231:0.0674:0.0:0.8096	rs826058;rs1278706;rs17244733;rs58708907;rs826058	1219	Q4AC94-1	.	Q	1219;1219;1219;27	ENSP00000334379:R1219Q;ENSP00000323339:R1219Q;ENSP00000388750:R27Q	.	R	-	2	0	C2CD3	73474565	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	2.328000	0.43867	0.447000	0.26695	-0.254000	0.11334	CGG	C|0.635;T|0.365	0.365	strong		0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73796917	C	T	73796917	3	4	22	1	0	0	0	0	1	0	0	0	2154	652	23	1	2279	1	C2CD3	11	73796917	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	234	73796917	61209599	6333	11441										
CHRDL2	25884	hgsc.bcm.edu	37	chr11	74413872	74413872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaggtagatctccaccaAgtccgaggcctcgtgttcca	10	14	1	2	rs34528207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:74413872A>G	ENST00000376332.3	-	9	1583	c.1087T>C	c.(1087-1089)Ttg>Ctg	p.L363L	CHRDL2_ENST00000263671.5_Silent_p.L363L|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	363					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					ATCTCCACCAAGTCCGAGGCC	0.642											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1465	0.292532	0.3835	0.1268	5008	,	,		16956	0.3264		0.1332	False		,,,				2504	0.4162				p.L363L		Atlas-SNP	.											.	CHRDL2	47	.	0			c.T1087C						PASS	.	G		1425,2975	683.6+/-404.3	225,975,1000	112	109	110		1087	3.1	1	11	dbSNP_126	110	1180,7406	764.1+/-407.6	70,1040,3183	no	coding-synonymous	CHRDL2	NM_015424.3		295,2015,4183	GG,GA,AA		13.7433,32.3864,20.0601		363/452	74413872	2605,10381	2200	4293	6493	SO:0001819	synonymous_variant	25884	exon9			CCACCAAGTCCGA	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1087T>C	11.37:g.74413872A>G		Somatic	39	0	0	1152	WXS	Illumina HiSeq	Phase_I	47	20	0.425532	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37																																																																																				A|0.791;G|0.209	0.209	strong		0.642	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			G	74413872	A	G	74413872	2	3	22	1	0	0	0	0	0	0	0	1	3374	69	3	3		3	CHRDL2	11	74413872	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	616955	74413872	60592644	6334	11442										
CHRDL2	25884	hgsc.bcm.edu	37	chr11	74415606	74415606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtctgaagtggcgagggaTgaagctcagaggggcgctga	20	6	2	4	rs59876990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:74415606T>C	ENST00000376332.3	-	7	1172	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	CHRDL2_ENST00000263671.5_Missense_Mutation_p.I226V|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	226					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TGGCGAGGGATGAAGCTCAGA	0.582													T|||	102	0.0203674	0.0756	0.0029	5008	,	,		14376	0.0		0.0	False		,,,				2504	0.0				p.I226V		Atlas-SNP	.											.	CHRDL2	47	.	0			c.A676G						PASS	.	T	VAL/ILE	246,4154	144.6+/-179.5	7,232,1961	65	62	63		676	-1.4	1	11	dbSNP_129	63	0,8586		0,0,4293	yes	missense	CHRDL2	NM_015424.3	29	7,232,6254	CC,CT,TT		0.0,5.5909,1.8943	benign	226/452	74415606	246,12740	2200	4293	6493	SO:0001583	missense	25884	exon7			GAGGGATGAAGCT	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.676A>G	11.37:g.74415606T>C	ENSP00000365510:p.Ile226Val	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	229	102	0.445415	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		42	0.019230769230769232	41	0.08333333333333333	1	0.0027624309392265192	0	0.0	0	0.0	T	12.53	1.964712	0.34659	0.055909	0.0	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.62105	0.94;0.98;0.05	5.39	-1.36	0.09085	.	0.361824	0.31472	N	0.007600	T	0.03871	0.0109	L	0.56769	1.78	0.27110	N	0.962407	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.06232	-1.0838	10	0.19147	T	0.46	-7.7366	6.1715	0.20421	0.0:0.1511:0.3979:0.451	rs59876990	226;226;226	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	V	226;226;112;110;226	ENSP00000263671:I226V;ENSP00000365510:I226V;ENSP00000431380:I226V	ENSP00000263671:I226V	I	-	1	0	CHRDL2	74093254	0.983000	0.35010	0.996000	0.52242	0.980000	0.70556	-0.008000	0.12788	-0.250000	0.09555	0.379000	0.24179	ATC	T|0.978;C|0.022	0.022	strong		0.582	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			C	74415606	T	C	74415606	3	2	22	1	0	0	0	0	1	0	0	0	3374	1464	51	2	703	2	CHRDL2	11	74415606	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1734	74415606	60590910	6335	11443										
SPCS2	9789	hgsc.bcm.edu	37	chr11	74688086	74688086	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatagaaagaaaaataaagTagccaattctaaaagtagcc	6	7	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:74688086T>C	ENST00000263672.6	+	5	718	c.679T>C	c.(679-681)Tag>Cag	p.*227Q	SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Nonstop_Mutation_p.*88Q|SPCS2_ENST00000530257.1_Nonstop_Mutation_p.*158Q	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						AAAAATAAAGTAGCCAATTCT	0.418																																					p.X227Q		Atlas-SNP	.											SPCS2_ENST00000263672,colon,carcinoma,-2,1	SPCS2	17	1	0			c.T679C						scavenged	.						6	6	6					11																	74688086		1717	3855	5572	SO:0001578	stop_lost	9789	exon5			ATAAAGTAGCCAA	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.679T>C	11.37:g.74688086T>C	ENSP00000263672:p.*227Glnext*27	Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	378	4	0.010582	NM_014752	Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	37	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.821118	0.32237	.	.	ENSG00000118363	ENST00000263672;ENST00000530257;ENST00000526361;ENST00000532972	.	.	.	5.36	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.554	0.39328	0.0:0.0839:0.0:0.9161	.	.	.	.	Q	227;158;88;258	.	.	X	+	1	0	SPCS2	74365734	1.000000	0.71417	0.932000	0.37286	0.229000	0.25112	7.129000	0.77225	0.986000	0.38683	0.533000	0.62120	TAG	.	.	none		0.418	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752		C	74688086	T	C	74688086	4	2	22	1	0	0	0	0	0	0	0	0	15023	1651	57	2	697	2	SPCS2	11	74688086	Nonstop_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	272480	74688086	60318430	6336	11444										
SERPINH1	871	hgsc.bcm.edu	37	chr11	75277757	75277757	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgctcactcagcaactcCacggcgcgcaacgtgacctg	10	17	2	1	rs650241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:75277757C>G	ENST00000524558.1	+	2	1798	c.363C>G	c.(361-363)tcC>tcG	p.S121S	SERPINH1_ENST00000358171.3_Silent_p.S121S|SERPINH1_ENST00000530284.1_Silent_p.S121S|SERPINH1_ENST00000533603.1_Silent_p.S121S|SERPINH1_ENST00000525876.1_5'Flank			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	121					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					TCAGCAACTCCACGGCGCGCA	0.672													C|||	1868	0.373003	0.4614	0.3804	5008	,	,		16855	0.2103		0.2972	False		,,,				2504	0.4939				p.S121S		Atlas-SNP	.											SERPINH1,NS,carcinoma,0,1	SERPINH1	33	1	0			c.C363G						PASS	.	C	,	1898,2502		424,1050,726	20	18	18		363,363	4.1	0.9	11	dbSNP_83	18	2587,5991		381,1825,2083	no	coding-synonymous,coding-synonymous	SERPINH1	NM_001207014.1,NM_001235.3	,	805,2875,2809	GG,GC,CC		30.1585,43.1364,34.5585	,	121/419,121/419	75277757	4485,8493	2200	4289	6489	SO:0001819	synonymous_variant	871	exon2			CAACTCCACGGCG	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.363C>G	11.37:g.75277757C>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	CCDS8239.1																																																																																			C|0.668;G|0.332	0.332	strong		0.672	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		G	75277757	C	G	75277757	2	3	22	1	0	0	0	0	0	0	0	1	14117	581	21	4		4	SERPINH1	11	75277757	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	589671	75277757	59728759	6337	11445										
SERPINH1	871	hgsc.bcm.edu	37	chr11	75279846	75279846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgactcggtcctatacCgtgggtgtcatgatgatgca	13	8	1	3	rs649257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:75279846C>T	ENST00000524558.1	+	3	2128	c.693C>T	c.(691-693)acC>acT	p.T231T	SERPINH1_ENST00000358171.3_Silent_p.T231T|SERPINH1_ENST00000530284.1_Silent_p.T231T|SERPINH1_ENST00000533603.1_Silent_p.T231T|SERPINH1_ENST00000525876.1_Silent_p.T14T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	231					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T231T(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGTCCTATACCGTGGGTGTCA	0.567													C|||	1888	0.376997	0.4766	0.379	5008	,	,		19111	0.2103		0.2972	False		,,,				2504	0.4949				p.T231T		Atlas-SNP	.											SERPINH1,NS,carcinoma,0,1	SERPINH1	33	1	1	Substitution - coding silent(1)	stomach(1)	c.C693T						PASS	.	C	,	1954,2446	553.2+/-378.7	444,1066,690	149	113	125		693,693	-11.4	0.2	11	dbSNP_83	125	2616,5970	422.8+/-354.1	383,1850,2060	no	coding-synonymous,coding-synonymous	SERPINH1	NM_001207014.1,NM_001235.3	,	827,2916,2750	TT,TC,CC		30.4682,44.4091,35.1917	,	231/419,231/419	75279846	4570,8416	2200	4293	6493	SO:0001819	synonymous_variant	871	exon3			CTATACCGTGGGT	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.693C>T	11.37:g.75279846C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	113	55	0.486726	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	CCDS8239.1																																																																																			C|0.660;T|0.340	0.340	strong		0.567	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		T	75279846	C	T	75279846	2	4	22	1	0	0	0	0	0	0	0	1	14117	639	23	1		1	SERPINH1	11	75279846	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2089	75279846	59726670	6338	11446										
SERPINH1	871	hgsc.bcm.edu	37	chr11	75282882	75282882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaagaacaaggccgacttGtcacgcatgtcaggcaagaa	11	10	2	2	rs585821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:75282882G>A	ENST00000524558.1	+	5	2446	c.1011G>A	c.(1009-1011)ttG>ttA	p.L337L	SERPINH1_ENST00000358171.3_Silent_p.L337L|SERPINH1_ENST00000533603.1_Silent_p.L337L|SERPINH1_ENST00000525876.1_Silent_p.L120L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	337					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					AGGCCGACTTGTCACGCATGT	0.587													G|||	1887	0.376797	0.4758	0.3775	5008	,	,		18407	0.2073		0.2972	False		,,,				2504	0.499				p.L337L		Atlas-SNP	.											.	SERPINH1	33	.	0			c.G1011A						PASS	.	G	,	1940,2460	550.6+/-378.1	437,1066,697	66	51	56		1011,1011	2.3	1	11	dbSNP_83	56	2609,5977	420.8+/-353.5	377,1855,2061	no	coding-synonymous,coding-synonymous	SERPINH1	NM_001207014.1,NM_001235.3	,	814,2921,2758	AA,AG,GG		30.3867,44.0909,35.03	,	337/419,337/419	75282882	4549,8437	2200	4293	6493	SO:0001819	synonymous_variant	871	exon5			CGACTTGTCACGC	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1011G>A	11.37:g.75282882G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	45	19	0.422222	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	CCDS8239.1																																																																																			G|0.662;A|0.338	0.338	strong		0.587	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		A	75282882	G	A	75282882	2	1	22	1	0	0	0	0	0	0	0	1	14117	1368	48	2		2	SERPINH1	11	75282882	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3036	75282882	59723634	6339	11447										
MOGAT2	80168	hgsc.bcm.edu	37	chr11	75431049	75431049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccagccgagatctgcaCtgtgggcttcatagccctcc	9	17	2	1	rs35828061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:75431049C>T	ENST00000198801.5	+	2	174	c.104C>T	c.(103-105)aCt>aTt	p.T35I	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	35					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GAGATCTGCACTGTGGGCTTC	0.592													C|||	122	0.024361	0.0908	0.0	5008	,	,		19209	0.0		0.002	False		,,,				2504	0.0				p.T35I		Atlas-SNP	.											MOGAT2,NS,carcinoma,+1,1	MOGAT2	49	1	0			c.C104T						PASS	.	C	ILE/THR	311,4089	169.8+/-200.3	8,295,1897	165	143	150		104	-7.3	0	11	dbSNP_126	150	6,8580	4.3+/-15.6	0,6,4287	yes	missense	MOGAT2	NM_025098.2	89	8,301,6184	TT,TC,CC		0.0699,7.0682,2.4411	benign	35/335	75431049	317,12669	2200	4293	6493	SO:0001583	missense	80168	exon2			TCTGCACTGTGGG	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.104C>T	11.37:g.75431049C>T	ENSP00000198801:p.Thr35Ile	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	69	31	0.449275	NM_025098	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	CCDS8240.1	37	0.01694139194139194	37	0.07520325203252033	0	0.0	0	0.0	0	0.0	C	2.919	-0.223665	0.06061	0.070682	6.99E-4	ENSG00000166391	ENST00000198801	T	0.09163	3.01	4.99	-7.32	0.01436	.	1.133530	0.06466	N	0.730377	T	0.00241	0.0007	N	0.04959	-0.14	0.20307	N	0.999911	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.42716	-0.9435	10	0.05833	T	0.94	2.7006	8.1687	0.31241	0.201:0.487:0.0:0.3121	rs35828061;rs61085918	35;35	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	I	35	ENSP00000198801:T35I	ENSP00000198801:T35I	T	+	2	0	MOGAT2	75108697	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-2.562000	0.00920	-1.376000	0.02126	-1.300000	0.01332	ACT	C|0.974;T|0.026	0.026	strong		0.592	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		T	75431049	C	T	75431049	3	4	22	1	0	0	0	0	1	0	0	0	9695	565	20	2	110	2	MOGAT2	11	75431049	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148167	75431049	59575467	6340	11448										
TSKU	25987	hgsc.bcm.edu	37	chr11	76507403	76507403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccctgagctggcgcccaGtggcttccgtgagctaccgg	14	15	0	2	rs11236938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:76507403G>A	ENST00000527881.1	+	2	1769	c.743G>A	c.(742-744)aGt>aAt	p.S248N	TSKU_ENST00000333090.4_Missense_Mutation_p.S248N			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	248			S -> N (in dbSNP:rs11236938).		anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CTGGCGCCCAGTGGCTTCCGT	0.647													A|||	423	0.0844649	0.2201	0.0605	5008	,	,		17127	0.0556		0.0278	False		,,,				2504	0.0061				p.S248N		Atlas-SNP	.											.	TSKU	26	.	0			c.G743A						PASS	.	A	ASN/SER	828,3562		90,648,1457	51	57	55		743	2.1	0	11	dbSNP_120	55	234,8338		2,230,4054	yes	missense	TSKU	NM_015516.3	46	92,878,5511	AA,AG,GG		2.7298,18.861,8.1932	benign	248/354	76507403	1062,11900	2195	4286	6481	SO:0001583	missense	25987	exon2			CGCCCAGTGGCTT	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"leucine rich repeat containing 54", "tsukushin", "tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.743G>A	11.37:g.76507403G>A	ENSP00000434847:p.Ser248Asn	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	114	67	0.587719	NM_015516	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	CCDS8246.1	197	0.0902014652014652	109	0.22154471544715448	23	0.06353591160220995	40	0.06993006993006994	25	0.032981530343007916	A	2.555	-0.303289	0.05495	0.18861	0.027298	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.56444	0.46;0.46	4.64	2.14	0.27477	.	0.967627	0.08640	N	0.915639	T	0.00039	0.0001	N	0.21324	0.655	0.80722	P	0.0	B	0.09022	0.002	B	0.17979	0.02	T	0.19063	-1.0317	9	0.23302	T	0.38	1.1007	4.8846	0.13697	0.6969:0.0:0.1656:0.1376	rs11236938;rs60587105;rs11236938	248	Q8WUA8	TSK_HUMAN	N	248;216;248	ENSP00000332668:S248N;ENSP00000434847:S248N	ENSP00000332668:S248N	S	+	2	0	TSKU	76185051	0.002000	0.14202	0.003000	0.11579	0.084000	0.17831	1.788000	0.38714	0.263000	0.21812	-0.361000	0.07541	AGT	G|0.913;A|0.087	0.087	strong		0.647	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		A	76507403	G	A	76507403	3	1	22	1	0	0	0	0	1	0	0	0	16624	1029	36	2	745	2	TSKU	11	76507403	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1076354	76507403	58499113	6341	11449										
CAPN5	726	hgsc.bcm.edu	37	chr11	76796022	76796022	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgctcttcgaggacccCctcttccccgccactgacga	9	17	2	1	rs34236021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:76796022C>A	ENST00000278559.3	+	2	279	c.90C>A	c.(88-90)ccC>ccA	p.P30P	CAPN5_ENST00000531028.1_Silent_p.P30P|CAPN5_ENST00000529629.1_Silent_p.P30P|CAPN5_ENST00000456580.2_Silent_p.P30P	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	30	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TCGAGGACCCCCTCTTCCCCG	0.637													c|||	176	0.0351438	0.1278	0.0072	5008	,	,		14704	0.0		0.002	False		,,,				2504	0.0				p.P30P		Atlas-SNP	.											.	CAPN5	67	.	0			c.C90A						PASS	.	C		424,3976	186.0+/-213.0	16,392,1792	33	37	36		90	0.5	1	11	dbSNP_126	36	9,8575	6.4+/-24.3	0,9,4283	no	coding-synonymous	CAPN5	NM_004055.4		16,401,6075	AA,AC,CC		0.1048,9.6364,3.3349		30/641	76796022	433,12551	2200	4292	6492	SO:0001819	synonymous_variant	726	exon2			GGACCCCCTCTTC		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.90C>A	11.37:g.76796022C>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	73	24	0.328767	NM_004055	O00263	Silent	SNP	ENST00000278559.3	37	CCDS8248.1																																																																																			C|0.973;A|0.027	0.027	strong		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		A	76796022	C	A	76796022	2	1	22	1	0	0	0	0	0	0	0	1	2629	610	22	4		4	CAPN5	11	76796022	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288619	76796022	58210494	6342	11450										
OMP	4975	hgsc.bcm.edu	37	chr11	76814110	76814110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtcgtgctggacaagccGggcaaggtcaccatcacagg	13	11	2	0	rs2233549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:76814110G>A	ENST00000529803.1	+	1	225	c.225G>A	c.(223-225)ccG>ccA	p.P75P	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	75					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACAAGCCGGGCAAGGTCA	0.622													G|||	1199	0.239417	0.1952	0.2061	5008	,	,		17152	0.2321		0.2107	False		,,,				2504	0.3599				p.P75P		Atlas-SNP	.											OMP,NS,carcinoma,+2,1	OMP	14	1	0			c.G225A						PASS	.	G	,	794,3570		65,664,1453	54	65	61		,225	-7.9	0.6	11	dbSNP_98	61	1673,6867		168,1337,2765	no	intron,coding-synonymous	CAPN5,OMP	NM_004055.4,NM_006189.1	,	233,2001,4218	AA,AG,GG		19.5902,18.1943,19.1181	,	,75/164	76814110	2467,10437	2182	4270	6452	SO:0001819	synonymous_variant	4975	exon1			CAAGCCGGGCAAG	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.225G>A	11.37:g.76814110G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	136	75	0.551471	NM_006189	Q562G2	Silent	SNP	ENST00000529803.1	37	CCDS53682.1																																																																																			G|0.790;A|0.210	0.210	strong		0.622	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		A	76814110	G	A	76814110	2	1	22	1	0	0	0	0	0	0	0	1	10867	1103	39	1		1	OMP	11	76814110	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18088	76814110	58192406	6343	11451										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76853783	76853783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtggatggacctgagatTggggcaggagttcgacgtgc	18	6	0	1	rs1052030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:76853783T>C	ENST00000409709.3	+	3	319	c.47T>C	c.(46-48)tTg>tCg	p.L16S	MYO7A_ENST00000458637.2_Missense_Mutation_p.L16S|MYO7A_ENST00000409619.2_Missense_Mutation_p.L5S|MYO7A_ENST00000409893.1_Missense_Mutation_p.L16S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	16			L -> S (in USH1B; heterozygosity approaching 50%; dbSNP:rs1052030). {ECO:0000269|PubMed:15660226}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACCTGAGATTGGGGCAGGAG	0.612													C|||	2572	0.513578	0.8109	0.3775	5008	,	,		18560	0.4812		0.341	False		,,,				2504	0.4192				p.L16S		Atlas-SNP	.											.	MYO7A	164	.	0			c.T47C	GRCh37	CM050716|CM990894	MYO7A	M	rs1052030	PASS	.	C	SER/LEU,SER/LEU,SER/LEU	3006,1148		1104,798,175	77	88	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	47,47,47	3.9	0.8	11	dbSNP_86	85	2871,5517		494,1883,1817	yes	missense,missense,missense	MYO7A	NM_000260.3,NM_001127179.2,NM_001127180.1	145,145,145	1598,2681,1992	CC,CT,TT		34.2275,27.636,46.8586	benign,benign,benign	16/2216,16/1179,16/2176	76853783	5877,6665	2077	4194	6271	SO:0001583	missense	4647	exon3			TGAGATTGGGGCA	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.47T>C	11.37:g.76853783T>C	ENSP00000386331:p.Leu16Ser	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	1061	0.4858058608058608	388	0.7886178861788617	157	0.43370165745856354	270	0.47202797202797203	246	0.3245382585751979	C	3.679	-0.065832	0.07273	0.72364	0.342275	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87412	-2.17;-2.25;-2.17;-2.18	4.84	3.91	0.45181	.	0.142236	0.45126	N	0.000387	T	0.00012	0.0000	N	0.00500	-1.43	0.53688	P	2.599999999997049E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45308	-0.9270	9	0.13470	T	0.59	.	10.384	0.44129	0.0:0.7921:0.1347:0.0732	rs1052030;rs1801156;rs3740761;rs60249649;rs1052030	16;16;16	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	S	16;16;16;5;15;15;15;15	ENSP00000386331:L16S;ENSP00000386689:L16S;ENSP00000392185:L16S;ENSP00000386635:L5S	ENSP00000345075:L15S	L	+	2	0	MYO7A	76531431	1.000000	0.71417	0.847000	0.33407	0.961000	0.63080	4.469000	0.60169	0.636000	0.30508	-0.355000	0.07637	TTG	T|0.491;C|0.509	0.509	strong		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		C	76853783	T	C	76853783	3	2	22	1	0	0	0	0	1	0	0	0	10082	1821	63	2	53	2	MYO7A	11	76853783	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39673	76853783	58152733	6344	11452										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76922208	76922208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgacaggagttgcccaaGtatctccgaggctaccacaa	9	13	2	1	rs111033209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:76922208G>A	ENST00000409709.3	+	45	6335	c.6063G>A	c.(6061-6063)aaG>aaA	p.K2021K	MYO7A_ENST00000409619.2_Silent_p.K1972K|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.K1983K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2021	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTTGCCCAAGTATCTCCGAG	0.617													G|||	155	0.0309505	0.1142	0.0043	5008	,	,		19584	0.0		0.001	False		,,,				2504	0.0				p.K2021K		Atlas-SNP	.											.	MYO7A	164	.	0			c.G6063A						PASS	.	G	,	352,3800		22,308,1746	19	23	22	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6063,5949	1.4	1	11	dbSNP_132	22	6,8398		0,6,4196	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	22,314,5942	AA,AG,GG		0.0714,8.4778,2.8512	,	2021/2216,1983/2176	76922208	358,12198	2076	4202	6278	SO:0001819	synonymous_variant	4647	exon45			GCCCAAGTATCTC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6063G>A	11.37:g.76922208G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			G|0.966;A|0.034	0.034	strong		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76922208	G	A	76922208	2	1	22	1	0	0	0	0	0	0	0	1	10082	1020	36	2		2	MYO7A	11	76922208	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68425	76922208	58084308	6345	11453										
RSF1	51773	hgsc.bcm.edu	37	chr11	77413223	77413223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatattgccaccaaattcgaTcctttcaggctcctgtgcca	6	13	1	0	rs78433827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77413223T>C	ENST00000308488.6	-	6	1353	c.1051A>G	c.(1051-1053)Atc>Gtc	p.I351V	RSF1_ENST00000360355.2_Missense_Mutation_p.I320V|RSF1_ENST00000480887.1_Missense_Mutation_p.I99V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	351	Glu-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAAATTCGATCCTTTCAGGC	0.398													T|||	29	0.00579073	0.0197	0.0043	5008	,	,		18269	0.0		0.0	False		,,,				2504	0.0				p.I351V		Atlas-SNP	.											RSF1,caecum,carcinoma,+2,1	RSF1	105	1	0			c.A1051G						PASS	.	T	VAL/ILE	110,4290	86.8+/-125.4	1,108,2091	149	147	148		1051	-0.2	0	11	dbSNP_131	148	2,8582	2.2+/-6.3	0,2,4290	yes	missense	RSF1	NM_016578.3	29	1,110,6381	CC,CT,TT		0.0233,2.5,0.8626	benign	351/1442	77413223	112,12872	2200	4292	6492	SO:0001583	missense	51773	exon6			ATTCGATCCTTTC	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1051A>G	11.37:g.77413223T>C	ENSP00000311513:p.Ile351Val	Somatic	256	1	0.00390625		WXS	Illumina HiSeq	Phase_I	288	162	0.5625	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	9	0.004120879120879121	6	0.012195121951219513	3	0.008287292817679558	0	0.0	0	0.0	T	0.003	-2.567968	0.00133	0.025	2.33E-4	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.84589	-1.85;-1.85;-1.87;-1.86;1.6	5.9	-0.187	0.13268	.	1.083410	0.07199	N	0.857181	T	0.41026	0.1141	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41124	-0.9526	10	0.21014	T	0.42	3.5725	1.2586	0.01996	0.175:0.2018:0.3389:0.2843	.	351	Q96T23	RSF1_HUMAN	V	351;99;320;152;350	ENSP00000311513:I351V;ENSP00000434509:I99V;ENSP00000353511:I320V;ENSP00000432022:I152V;ENSP00000436408:I350V	ENSP00000311513:I351V	I	-	1	0	RSF1	77090871	0.000000	0.05858	0.014000	0.15608	0.387000	0.30353	-0.043000	0.12043	0.057000	0.16193	-0.313000	0.08912	ATC	T|0.992;C|0.008	0.008	strong		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77413223	T	C	77413223	3	2	22	1	0	0	0	0	1	0	0	0	13699	1435	50	2	3318	2	RSF1	11	77413223	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	491015	77413223	57593293	6346	11454										
C11orf67	28971	hgsc.bcm.edu	37	chr11	77553638	77553638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaaagtatggccagggggTagtcggacttgggattggag	18	5	0	0	rs585721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77553638T>C	ENST00000526415.1	+	3	269	c.96T>C	c.(94-96)ggT>ggC	p.G32G	RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000533193.1_Silent_p.G32G|AAMDC_ENST00000525409.1_Silent_p.G32G|AAMDC_ENST00000532481.1_Silent_p.G32G|AAMDC_ENST00000525034.1_Silent_p.G51G|AAMDC_ENST00000393427.2_Silent_p.G32G|AAMDC_ENST00000527134.1_Silent_p.G32G|AAMDC_ENST00000304716.8_Silent_p.G32G			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	32	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)		p.G32G(1)									GGCCAGGGGGTAGTCGGACTT	0.433													C|||	1957	0.390775	0.5265	0.3948	5008	,	,		17605	0.2688		0.3688	False		,,,				2504	0.3528				p.G32G		Atlas-SNP	.											C11orf67,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.T96C						PASS	.	C		2296,2104	575.6+/-384.0	583,1130,487	69	67	68		96	-1.8	1	11	dbSNP_83	68	3162,5422	653.5+/-401.1	586,1990,1716	no	coding-synonymous	C11orf67	NM_024684.2		1169,3120,2203	CC,CT,TT		36.836,47.8182,42.0364		32/123	77553638	5458,7526	2200	4292	6492	SO:0001819	synonymous_variant	28971	exon2			AGGGGGTAGTCGG	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.96T>C	11.37:g.77553638T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_024684	Q96AQ4|Q9Y6B1	Silent	SNP	ENST00000526415.1	37	CCDS8254.1																																																																																			T|0.588;C|0.412	0.412	strong		0.433	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		C	77553638	T	C	77553638	2	2	22	1	0	0	0	0	0	0	0	1	1657	1625	57	2		2	C11orf67	11	77553638	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	140415	77553638	57452878	6347	11455										
INTS4	92105	hgsc.bcm.edu	37	chr11	77635882	77635882	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatcccttctttggttgaAacattagtacagcataagag	8	7	1	3	rs7119720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77635882A>C	ENST00000534064.1	-	12	1462	c.1428T>G	c.(1426-1428)gtT>gtG	p.V476V	INTS4_ENST00000529807.1_Silent_p.V476V|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	476					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTTGGTTGAAACATTAGTAC	0.353													A|||	871	0.173922	0.1687	0.1427	5008	,	,		20915	0.1478		0.2068	False		,,,				2504	0.1963				p.V476V		Atlas-SNP	.											.	INTS4	89	.	0			c.T1428G						PASS	.	A		763,3625		57,649,1488	25	25	25		1428	0.7	1	11	dbSNP_116	25	1735,6825		166,1403,2711	no	coding-synonymous	INTS4	NM_033547.3		223,2052,4199	CC,CA,AA		20.2687,17.3883,19.2926		476/964	77635882	2498,10450	2194	4280	6474	SO:0001819	synonymous_variant	92105	exon12			GGTTGAAACATTA	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1428T>G	11.37:g.77635882A>C		Somatic	372	1	0.00268817		WXS	Illumina HiSeq	Phase_I	401	168	0.418953	NM_033547	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																			A|0.818;C|0.182	0.182	strong		0.353	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		C	77635882	A	C	77635882	2	2	22	1	0	0	0	0	0	0	0	1	7780	1	1	5		5	INTS4	11	77635882	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82244	77635882	57370634	6348	11456										
THRSP	7069	hgsc.bcm.edu	37	chr11	77775157	77775157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccatgggctgctgccgcGggaggagtggcaggccaagg	20	10	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77775157G>A	ENST00000281030.2	+	1	251	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	77					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGCTGCCGCGGGAGGAGTGG	0.632																																					p.R77Q		Atlas-SNP	.											.	THRSP	18	.	0			c.G230A						PASS	.						66	70	68					11																	77775157		2200	4292	6492	SO:0001583	missense	7069	exon1			TGCCGCGGGAGGA	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"SPOT14 homolog (rat)"	601926	"thyroid hormone responsive SPOT14 (rat) homolog", "lipogenic protein 1"	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.230G>A	11.37:g.77775157G>A	ENSP00000281030:p.Arg77Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	120	62	0.516667	NM_003251	B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	9.274	1.046346	0.19748	.	.	ENSG00000151365	ENST00000281030	.	.	.	4.96	1.88	0.25563	.	0.320599	0.29328	N	0.012474	T	0.18045	0.0433	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.17722	0.019	T	0.09684	-1.0663	8	0.26408	T	0.33	-4.5778	3.7206	0.08454	0.3124:0.1858:0.5018:0.0	.	77	Q92748	THRSP_HUMAN	Q	77	.	ENSP00000281030:R77Q	R	+	2	0	THRSP	77452805	0.582000	0.26749	0.195000	0.23364	0.730000	0.41778	0.188000	0.17018	0.700000	0.31782	0.561000	0.74099	CGG	.	.	none		0.632	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		A	77775157	G	A	77775157	3	1	22	1	0	0	0	0	1	0	0	0	15873	1116	39	1	232	1	THRSP	11	77775157	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139275	77775157	57231359	6349	11457										
USP35	57558	hgsc.bcm.edu	37	chr11	77911224	77911224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtccggggagctgccttgTctgtgctcaagtacatgctc	12	12	2	0	rs115848453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77911224T>C	ENST00000529308.1	+	5	1243	c.982T>C	c.(982-984)Tct>Cct	p.S328P	USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.S59P|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	328					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGCTGCCTTGTCTGTGCTCAA	0.602													T|||	28	0.00559105	0.0212	0.0	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.0				p.S328P		Atlas-SNP	.											.	USP35	179	.	0			c.T982C						PASS	.	T	PRO/SER	46,4006		1,44,1981	105	108	107		982	5	1	11	dbSNP_132	107	0,8330		0,0,4165	yes	missense	USP35	NM_020798.2	74	1,44,6146	CC,CT,TT		0.0,1.1352,0.3715	probably-damaging	328/1019	77911224	46,12336	2026	4165	6191	SO:0001583	missense	57558	exon5			GCCTTGTCTGTGC	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.982T>C	11.37:g.77911224T>C	ENSP00000431876:p.Ser328Pro	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	182	71	0.39011	NM_020798		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	T	9.269	1.045301	0.19748	0.011352	0.0	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.68624	-0.34;-0.34;0.91	4.97	4.97	0.65823	Armadillo-like helical (1);	0.253449	0.28161	N	0.016373	T	0.40094	0.1103	N	0.13098	0.295	0.80722	D	1	D	0.53885	0.963	P	0.48425	0.577	T	0.50972	-0.8764	10	0.29301	T	0.29	-4.9719	14.8266	0.70117	0.0:0.0:0.0:1.0	.	328	Q9P2H5	UBP35_HUMAN	P	84;328;59	ENSP00000436001:S84P;ENSP00000431876:S328P;ENSP00000434942:S59P	ENSP00000434942:S59P	S	+	1	0	USP35	77588872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.519000	0.45546	2.092000	0.63282	0.533000	0.62120	TCT	T|0.995;C|0.005	0.005	strong		0.602	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		C	77911224	T	C	77911224	3	2	22	1	0	0	0	0	1	0	0	0	17063	1667	58	2	996	2	USP35	11	77911224	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136067	77911224	57095292	6350	11458										
USP35	57558	hgsc.bcm.edu	37	chr11	77920563	77920563	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtccagctcgccctctccGcccgaggagcccccggcccc	10	23	1	0	rs2510045	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77920563G>T	ENST00000529308.1	+	10	1923	c.1662G>T	c.(1660-1662)ccG>ccT	p.P554P	USP35_ENST00000530267.1_Silent_p.P122P|USP35_ENST00000526425.1_Silent_p.P285P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.P140P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	554	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGCCCTCTCCGCCCGAGGAGC	0.567													g|||	1316	0.26278	0.1952	0.3156	5008	,	,		18184	0.3968		0.1779	False		,,,				2504	0.2658				p.P554P		Atlas-SNP	.											.	USP35	179	.	0			c.G1662T						PASS	.			669,3251		55,559,1346	35	40	38		1662	-6.3	0	11	dbSNP_100	38	1291,6959		105,1081,2939	no	coding-synonymous	USP35	NM_020798.2		160,1640,4285	TT,TG,GG		15.6485,17.0663,16.1052		554/1019	77920563	1960,10210	1960	4125	6085	SO:0001819	synonymous_variant	57558	exon10			CTCTCCGCCCGAG	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1662G>T	11.37:g.77920563G>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	161	79	0.490683	NM_020798		Silent	SNP	ENST00000529308.1	37	CCDS41693.1																																																																																			G|0.761;T|0.239	0.239	strong		0.567	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77920563	G	T	77920563	2	4	22	1	0	0	0	0	0	0	0	1	17063	1074	38	4		4	USP35	11	77920563	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9339	77920563	57085953	6351	11459										
USP35	57558	hgsc.bcm.edu	37	chr11	77921013	77921013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagcaccagaggggaaggAgagagggagaaagaggagga	20	3	0	4	rs78142936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77921013A>G	ENST00000529308.1	+	10	2373	c.2112A>G	c.(2110-2112)ggA>ggG	p.G704G	USP35_ENST00000530267.1_Silent_p.G272G|USP35_ENST00000526425.1_Silent_p.G435G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.G290G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	704	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			gaggggaaggagagagggaga	0.547													A|||	394	0.0786741	0.2814	0.0231	5008	,	,		18681	0.0		0.005	False		,,,				2504	0.001				p.G704G		Atlas-SNP	.											.	USP35	179	.	0			c.A2112G						PASS	.	A		976,3208		101,774,1217	46	61	56		2112	0.8	0	11	dbSNP_131	56	25,8435		1,23,4206	no	coding-synonymous	USP35	NM_020798.2		102,797,5423	GG,GA,AA		0.2955,23.327,7.9168		704/1019	77921013	1001,11643	2092	4230	6322	SO:0001819	synonymous_variant	57558	exon10			GGAAGGAGAGAGG	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2112A>G	11.37:g.77921013A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_020798		Silent	SNP	ENST00000529308.1	37	CCDS41693.1																																																																																			A|0.935;G|0.065	0.065	strong		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		G	77921013	A	G	77921013	2	3	22	1	0	0	0	0	0	0	0	1	17063	291	11	3		3	USP35	11	77921013	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	450	77921013	57085503	6352	11460										
GAB2	9846	hgsc.bcm.edu	37	chr11	77936166	77936166	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactcaccaggaaagagccAactccatcactcatggattc	6	14	3	1	rs1385600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77936166A>G	ENST00000361507.4	-	5	1375	c.1290T>C	c.(1288-1290)gtT>gtC	p.V430V	GAB2_ENST00000340149.2_Silent_p.V392V|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	430					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGAAAGAGCCAACTCCATCAC	0.532													G|||	1734	0.346246	0.4924	0.3357	5008	,	,		20447	0.4008		0.1829	False		,,,				2504	0.2679				p.V430V		Atlas-SNP	.											.	GAB2	63	.	0			c.T1290C						PASS	.	G	,	1879,2521	630.1+/-395.4	410,1059,731	133	126	129		1176,1290	2.3	0	11	dbSNP_88	129	1413,7171	752.5+/-407.4	125,1163,3004	no	coding-synonymous,coding-synonymous	GAB2	NM_012296.3,NM_080491.2	,	535,2222,3735	GG,GA,AA		16.4609,42.7045,25.3543	,	392/639,430/677	77936166	3292,9692	2200	4292	6492	SO:0001819	synonymous_variant	9846	exon5			AGAGCCAACTCCA	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1290T>C	11.37:g.77936166A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	97	43	0.443299	NM_080491	A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	CCDS8259.1																																																																																			A|0.691;G|0.309	0.309	strong		0.532	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		G	77936166	A	G	77936166	2	3	22	1	0	0	0	0	0	0	0	1	6149	117	5	2		2	GAB2	11	77936166	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15153	77936166	57070350	6353	11461										
GAB2	9846	hgsc.bcm.edu	37	chr11	77937800	77937800	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtctaccaggaggtccccGaactccctgcacagggtgtt	11	13	1	0	rs2248407	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:77937800G>A	ENST00000361507.4	-	4	1003	c.918C>T	c.(916-918)ttC>ttT	p.F306F	GAB2_ENST00000340149.2_Silent_p.F268F|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	306					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGAGGTCCCCGAACTCCCTGC	0.557													A|||	1582	0.315895	0.3888	0.3285	5008	,	,		17019	0.3978		0.1789	False		,,,				2504	0.2648				p.F306F		Atlas-SNP	.											.	GAB2	63	.	0			c.C918T						PASS	.	A	,	1490,2910	676.3+/-403.2	249,992,959	68	64	65		804,918	-1.1	1	11	dbSNP_100	65	1378,7206	754.1+/-407.5	116,1146,3030	no	coding-synonymous,coding-synonymous	GAB2	NM_012296.3,NM_080491.2	,	365,2138,3989	AA,AG,GG		16.0531,33.8636,22.0887	,	268/639,306/677	77937800	2868,10116	2200	4292	6492	SO:0001819	synonymous_variant	9846	exon4			GTCCCCGAACTCC	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.918C>T	11.37:g.77937800G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	182	104	0.571429	NM_080491	A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	CCDS8259.1																																																																																			G|0.738;A|0.262	0.262	strong		0.557	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		A	77937800	G	A	77937800	2	1	22	1	0	0	0	0	0	0	0	1	6149	1049	37	1		1	GAB2	11	77937800	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1634	77937800	57068716	6354	11462										
NARS2	79731	hgsc.bcm.edu	37	chr11	78279744	78279744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacattttgccttttggaTggactttttatcagctgccc	7	11	1	0	rs60510975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:78279744T>C	ENST00000281038.5	-	3	681	c.306A>G	c.(304-306)ccA>ccG	p.P102P	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	102					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCCTTTTGGATGGACTTTTTA	0.333													T|||	225	0.0449281	0.1657	0.0072	5008	,	,		17073	0.0		0.001	False		,,,				2504	0.0				p.P102P		Atlas-SNP	.											NARS2,lower_third,carcinoma,-2,1	NARS2	62	1	0			c.A306G						PASS	.	T		604,3796	264.1+/-265.8	41,522,1637	182	174	177		306	-1.5	1	11	dbSNP_129	177	3,8579	3.0+/-9.4	0,3,4288	no	coding-synonymous	NARS2	NM_024678.5		41,525,5925	CC,CT,TT		0.035,13.7273,4.6757		102/478	78279744	607,12375	2200	4291	6491	SO:0001819	synonymous_variant	79731	exon3			TTTGGATGGACTT	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.306A>G	11.37:g.78279744T>C		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	193	97	0.502591	NM_024678	G3V178	Silent	SNP	ENST00000281038.5	37	CCDS8261.1																																																																																			T|0.960;C|0.040	0.040	strong		0.333	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		C	78279744	T	C	78279744	2	2	22	1	0	0	0	0	0	0	0	1	10171	1451	51	2		2	NARS2	11	78279744	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	341944	78279744	56726772	6355	11463										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78387356	78387356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtggggctcagtctgcagCgccacctccatgccgttggc	13	14	2	0	rs59660398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:78387356C>T	ENST00000278550.7	-	30	5799	c.5337G>A	c.(5335-5337)gcG>gcA	p.A1779A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1779					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)										CAGTCTGCAGCGCCACCTCCA	0.632													C|||	301	0.0601038	0.2224	0.0101	5008	,	,		15294	0.0		0.0	False		,,,				2504	0.0				p.A1779A		Atlas-SNP	.											.	.	.	.	0			c.G5337A						PASS	.	C		802,3514		60,682,1416	30	37	35		5337	-9.4	0.2	11	dbSNP_129	35	15,8485		0,15,4235	no	coding-synonymous	ODZ4	NM_001098816.2		60,697,5651	TT,TC,CC		0.1765,18.582,6.3748		1779/2770	78387356	817,11999	2158	4250	6408	SO:0001819	synonymous_variant	26011	exon30			CTGCAGCGCCACC	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.5337G>A	11.37:g.78387356C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																			C|0.963;T|0.037	0.037	strong		0.632	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78387356	C	T	78387356	2	4	22	1	0	0	0	0	0	0	0	1	10837	755	27	1		1	ODZ4	11	78387356	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107612	78387356	56619160	6356	11464										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78399121	78399121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcagtgtgtagaaggcGcctgaggcagacaggttggt	17	7	0	3	rs1792148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:78399121G>A	ENST00000278550.7	-	29	5700	c.5238C>T	c.(5236-5238)ggC>ggT	p.G1746G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1746					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)										TGTAGAAGGCGCCTGAGGCAG	0.542													A|||	662	0.132188	0.3222	0.1023	5008	,	,		18874	0.002		0.1342	False		,,,				2504	0.0286				p.G1746G		Atlas-SNP	.											ODZ4_ENST00000278550,colon,carcinoma,-2,1	.	.	1	0			c.C5238T						PASS	.	A		1085,3021		145,795,1113	159	163	162		5238	2.5	1	11	dbSNP_89	162	889,7415		45,799,3308	no	coding-synonymous	ODZ4	NM_001098816.2		190,1594,4421	AA,AG,GG		10.7057,26.4247,15.9065		1746/2770	78399121	1974,10436	2053	4152	6205	SO:0001819	synonymous_variant	26011	exon29			GAAGGCGCCTGAG	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.5238C>T	11.37:g.78399121G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	122	65	0.532787	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																			G|0.864;A|0.136	0.136	strong		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78399121	G	A	78399121	2	1	22	1	0	0	0	0	0	0	0	1	10837	1074	38	1		1	ODZ4	11	78399121	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11765	78399121	56607395	6357	11465										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78437182	78437182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctccaagcttggacgcGtcaatttcatagccctgcag	8	14	2	0	rs689369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:78437182G>A	ENST00000278550.7	-	23	3954	c.3492C>T	c.(3490-3492)gaC>gaT	p.D1164D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1164					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)										GCTTGGACGCGTCAATTTCAT	0.453													A|||	903	0.180312	0.2398	0.2277	5008	,	,		20862	0.1438		0.161	False		,,,				2504	0.1237				p.D1164D		Atlas-SNP	.											.	.	.	.	0			c.C3492T						PASS	.	A		810,3066		100,610,1228	317	307	310		3492	-1	1	11	dbSNP_83	310	1377,6895		121,1135,2880	yes	coding-synonymous	ODZ4	NM_001098816.2		221,1745,4108	AA,AG,GG		16.6465,20.8978,18.003		1164/2770	78437182	2187,9961	1938	4136	6074	SO:0001819	synonymous_variant	26011	exon23			GGACGCGTCAATT	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.3492C>T	11.37:g.78437182G>A		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	251	123	0.49004	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																			G|0.814;A|0.186	0.186	strong		0.453	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78437182	G	A	78437182	2	1	22	1	0	0	0	0	0	0	0	1	10837	1136	40	1		1	ODZ4	11	78437182	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38061	78437182	56569334	6358	11466										
FAM181B	220382	hgsc.bcm.edu	37	chr11	82443672	82443672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaaagaggccaaatggcccCgcccgtcctccccgccggga	12	18	0	1	rs6592081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:82443672C>G	ENST00000329203.3	-	1	1234	c.1100G>C	c.(1099-1101)cGg>cCg	p.R367P		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	367	Pro-rich.		R -> P (in dbSNP:rs6592081).							large_intestine(1)|lung(2)|prostate(1)	4						CAAATGGCCCCGCCCGTCCTC	0.706													G|||	3205	0.639976	0.8949	0.5764	5008	,	,		10642	0.6319		0.3608	False		,,,				2504	0.636				p.R367P		Atlas-SNP	.											.	FAM181B	14	.	0			c.G1100C						PASS	.	G	PRO/ARG	2058,1152		682,694,229	2	3	3		1100	3.3	0	11	dbSNP_116	3	2285,4835		476,1333,1751	yes	missense	FAM181B	NM_175885.3	103	1158,2027,1980	GG,GC,CC		32.0927,35.8879,42.0426	benign	367/427	82443672	4343,5987	1605	3560	5165	SO:0001583	missense	220382	exon1			TGGCCCCGCCCGT	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1100G>C	11.37:g.82443672C>G	ENSP00000365295:p.Arg367Pro	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_175885	B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	CCDS31648.1	1303	0.5966117216117216	438	0.8902439024390244	195	0.5386740331491713	388	0.6783216783216783	282	0.3720316622691293	G	0.357	-0.941794	0.02322	0.641121	0.320927	ENSG00000182103	ENST00000329203	T	0.29142	1.58	5.27	3.26	0.37387	.	0.262193	0.23708	N	0.045345	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	14.2854	0.66243	0.0:0.4276:0.5724:0.0	rs6592081	367	A6NEQ2	F181B_HUMAN	P	367	ENSP00000365295:R367P	.	R	-	2	0	FAM181B	82121320	0.136000	0.22515	0.002000	0.10522	0.827000	0.46813	1.620000	0.36976	0.610000	0.30035	-0.216000	0.12614	CGG	C|0.402;G|0.598	0.598	strong		0.706	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		G	82443672	C	G	82443672	3	3	22	1	0	0	0	0	1	0	0	0	5509	652	23	4	184	4	FAM181B	11	82443672	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4006490	82443672	52562844	6359	11467										
PRCP	5547	hgsc.bcm.edu	37	chr11	82550387	82550387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctggcccgaataattgtaAtatacattcagagcttggaa	8	8	1	1	rs4843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:82550387A>G	ENST00000313010.3	-	7	1196	c.1002T>C	c.(1000-1002)taT>taC	p.Y334Y	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Silent_p.Y355Y|PRCP_ENST00000535099.1_Silent_p.Y229Y	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	334	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AATAATTGTAATATACATTCA	0.378													A|||	525	0.104832	0.267	0.0418	5008	,	,		18163	0.005		0.0278	False		,,,				2504	0.1125				p.Y355Y		Atlas-SNP	.											.	PRCP	69	.	0			c.T1065C						PASS	.	A	,	1014,3392	375.4+/-321.6	108,798,1297	91	91	91		1002,1065	4.4	1	11	dbSNP_52	91	315,8285	112.1+/-172.3	5,305,3990	no	coding-synonymous,coding-synonymous	PRCP	NM_005040.2,NM_199418.2	,	113,1103,5287	GG,GA,AA		3.6628,23.0141,10.2184	,	334/497,355/518	82550387	1329,11677	2203	4300	6503	SO:0001819	synonymous_variant	5547	exon8			ATTGTAATATACA	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1002T>C	11.37:g.82550387A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	37	0.672727	NM_199418	A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	CCDS8262.1																																																																																			A|0.900;G|0.100	0.100	strong		0.378	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		G	82550387	A	G	82550387	2	3	22	1	0	0	0	0	0	0	0	1	12449	108	4	2		2	PRCP	11	82550387	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	106715	82550387	52456129	6360	11468										
C11orf82	220042	hgsc.bcm.edu	37	chr11	82644059	82644059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactcttaagaagactatcaGaatctcaccacacagggaga	7	10	3	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:82644059G>C	ENST00000533655.1	+	6	1891	c.1679G>C	c.(1678-1680)aGa>aCa	p.R560T	C11orf82_ENST00000329143.3_Missense_Mutation_p.R259T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.R560T|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		560					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						AAGACTATCAGAATCTCACCA	0.333																																					p.R560T		Atlas-SNP	.											.	C11orf82	71	.	0			c.G1679C						PASS	.						39	40	40					11																	82644059		2203	4297	6500	SO:0001583	missense	220042	exon6			CTATCAGAATCTC																												ENST00000533655.1:c.1679G>C	11.37:g.82644059G>C	ENSP00000435421:p.Arg560Thr	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	33	17	0.515152	NM_145018	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	3.431	-0.116076	0.06881	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18338	2.48;2.48;2.22	5.73	0.776	0.18532	.	0.891385	0.09988	N	0.730156	T	0.20901	0.0503	L	0.57536	1.79	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.17167	-1.0378	9	.	.	.	.	8.4326	0.32766	0.3684:0.0:0.6316:0.0	.	560	Q8IXT1	NOXIN_HUMAN	T	560;560;259	ENSP00000414687:R560T;ENSP00000435421:R560T;ENSP00000329930:R259T	.	R	+	2	0	C11orf82	82321707	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.075000	0.11431	0.102000	0.17638	0.655000	0.94253	AGA	.	.	none		0.333	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			C	82644059	G	C	82644059	3	2	22	1	0	0	0	0	1	0	0	0	1665	942	33	4	1693	4	C11orf82	11	82644059	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93672	82644059	52362457	6361	11469										
PCF11	51585	hgsc.bcm.edu	37	chr11	82875359	82875359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaacaactaataaggcaGcagttactggcaaagcaaaa	8	8	0	1	rs7130527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:82875359G>A	ENST00000298281.4	+	4	1070	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	206					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TAATAAGGCAGCAGTTACTGG	0.428													A|||	519	0.103634	0.1641	0.0663	5008	,	,		15411	0.0496		0.0805	False		,,,				2504	0.1278				p.Q206Q		Atlas-SNP	.											.	PCF11	220	.	0			c.G618A						PASS	.	A		547,3157		44,459,1349	58	52	54		618	-2.9	1	11	dbSNP_116	54	702,7482		27,648,3417	no	coding-synonymous	PCF11	NM_015885.3		71,1107,4766	AA,AG,GG		8.5777,14.7678,10.5064		206/1556	82875359	1249,10639	1852	4092	5944	SO:0001819	synonymous_variant	51585	exon4			AAGGCAGCAGTTA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.618G>A	11.37:g.82875359G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	53	52	0.981132	NM_015885	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																			G|0.905;A|0.095	0.095	strong		0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		A	82875359	G	A	82875359	2	1	22	1	0	0	0	0	0	0	0	1	11573	962	34	2		2	PCF11	11	82875359	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	231300	82875359	52131157	6362	11470										
PCF11	51585	hgsc.bcm.edu	37	chr11	82880341	82880341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgagggtccacatggtcaGccaggggttggtatcaggtt	15	7	2	1	rs12284052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:82880341G>A	ENST00000298281.4	+	8	3416	c.2964G>A	c.(2962-2964)caG>caA	p.Q988Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	988	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CACATGGTCAGCCAGGGGTTG	0.517													A|||	1226	0.244808	0.6657	0.1167	5008	,	,		20858	0.0496		0.0835	False		,,,				2504	0.1339				p.Q988Q		Atlas-SNP	.											.	PCF11	220	.	0			c.G2964A						PASS	.	A		2068,1764		558,952,406	90	92	91		2964	-1	1	11	dbSNP_120	91	727,7533		29,669,3432	no	coding-synonymous	PCF11	NM_015885.3		587,1621,3838	AA,AG,GG		8.8015,46.0334,23.1145		988/1556	82880341	2795,9297	1916	4130	6046	SO:0001819	synonymous_variant	51585	exon8			TGGTCAGCCAGGG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2964G>A	11.37:g.82880341G>A		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	206	206	1	NM_015885	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																			G|0.783;A|0.217	0.217	strong		0.517	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		A	82880341	G	A	82880341	2	1	22	1	0	0	0	0	0	0	0	1	11573	962	34	2		2	PCF11	11	82880341	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4982	82880341	52126175	6363	11471										
DLG2	1740	hgsc.bcm.edu	37	chr11	83182726	83182726	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcaagtcgtcattgatccGatccttcatgggccccagga	9	12	3	1	rs34857356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:83182726G>T	ENST00000532653.1	-	19	2322	c.2020C>A	c.(2020-2022)Cgg>Agg	p.R674R	DLG2_ENST00000524982.1_Silent_p.R688R|DLG2_ENST00000404783.3_Silent_p.R170R|DLG2_ENST00000330014.6_Silent_p.R613R|DLG2_ENST00000376104.2_Silent_p.R797R|DLG2_ENST00000543673.1_Silent_p.R797R|DLG2_ENST00000376106.3_Silent_p.R156R|DLG2_ENST00000531015.1_Silent_p.R659R|DLG2_ENST00000537455.1_Silent_p.R442R|DLG2_ENST00000398309.2_Silent_p.R692R|DLG2_ENST00000418306.2_Silent_p.R571R|DLG2_ENST00000426717.2_Silent_p.R156R|DLG2_ENST00000280241.8_Silent_p.R731R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	389					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTGATCCGATCCTTCATG	0.433													G|||	105	0.0209665	0.0688	0.013	5008	,	,		17636	0.0		0.005	False		,,,				2504	0.0				p.R797R		Atlas-SNP	.											DLG2_ENST00000418306,colon,carcinoma,+2,9	DLG2	448	9	0			c.C2389A						PASS	.	G	,,,,	221,3475		11,199,1638	67	65	65		2389,1711,466,2191,2074	4.2	1	11	dbSNP_126	65	11,8175		0,11,4082	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLG2	NM_001142699.1,NM_001142700.1,NM_001142702.1,NM_001206769.1,NM_001364.3	,,,,	11,210,5720	TT,TG,GG		0.1344,5.9794,1.9525	,,,,	797/976,571/750,156/335,731/910,692/871	83182726	232,11650	1848	4093	5941	SO:0001819	synonymous_variant	1740	exon24			TGATCCGATCCTT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2020C>A	11.37:g.83182726G>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	111	60	0.540541	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37																																																																																				G|0.984;T|0.016	0.016	strong		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		T	83182726	G	T	83182726	2	4	22	1	0	0	0	0	0	0	0	1	4555	1057	37	4		4	DLG2	11	83182726	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	302385	83182726	51823790	6364	11472										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85435730	85435730	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcactctcagttattaaCggagcctcggccttttctac	7	12	2	0	rs550404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85435730C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Silent_p.P590P|SYTL2_ENST00000525423.1_Silent_p.P590P|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Silent_p.P1114P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P590P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAGTTATTAACGGAGCCTCGG	0.438													C|||	3013	0.601637	0.6483	0.5461	5008	,	,		18027	0.6042		0.6541	False		,,,				2504	0.5215				p.P590P		Atlas-SNP	.											.	SYTL2	231	.	1	Substitution - coding silent(1)	prostate(1)	c.G1770A						PASS	.	C	,,,,	2856,1550	664.5+/-401.4	929,998,276	66	64	65		,,,1770,1770	-7	0	11	dbSNP_83	65	5644,2954	665.0+/-402.2	1877,1890,532	yes	intron,intron,intron,coding-synonymous,coding-synonymous	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,,	2806,2888,808	TT,TC,CC		34.3568,35.1793,34.6355	,,,,	,,,590/1273,590/1257	85435730	8500,4504	2203	4299	6502	SO:0001627	intron_variant	54843	exon1			TATTAACGGAGCC	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3208G>A	11.37:g.85435730C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	100	99	0.99	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																			C|0.366;T|0.634	0.634	strong		0.438	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85435730	C	T	85435730	1	4	22	0	1	0	0	0	0	0	0	0	15480	523	19	1		1	SYTL2	11	85435730	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2253004	85435730	49570786	6365	11473										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85435742	85435742	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttattaacggagcctcggcCttttctactgtttcttttaa	7	9	2	0	rs146372321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85435742C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Silent_p.K1110K|SYTL2_ENST00000354566.3_Silent_p.K586K|SYTL2_ENST00000525423.1_Silent_p.K586K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGCCTCGGCCTTTTCTACTG	0.443													C|||	30	0.00599042	0.0219	0.0014	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0				p.K586K		Atlas-SNP	.											.	SYTL2	231	.	0			c.G1758A						PASS	.	C	,,,,	79,4327	62.3+/-99.4	0,79,2124	67	65	66		,,,1758,1758	1	0.1	11	dbSNP_134	66	0,8598		0,0,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,,	0,79,6423	TT,TC,CC		0.0,1.793,0.6075	,,,,	,,,586/1273,586/1257	85435742	79,12925	2203	4299	6502	SO:0001627	intron_variant	54843	exon1			CTCGGCCTTTTCT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3196G>A	11.37:g.85435742C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	117	47	0.401709	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																			C|0.995;T|0.005	0.005	strong		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85435742	C	T	85435742	1	4	22	0	1	0	0	0	0	0	0	0	15480	680	24	2		2	SYTL2	11	85435742	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	85435742	49570774	6366	11474										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85436352	85436352	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacagtctccgaaatttccGtttgagaagggtgtacccta	9	10	1	1	rs641393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85436352G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T383M|SYTL2_ENST00000525423.1_Missense_Mutation_p.T383M|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.T907M	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CGAAATTTCCGTTTGAGAAGG	0.473													G|||	2611	0.521366	0.4062	0.4957	5008	,	,		20487	0.5972		0.6282	False		,,,				2504	0.5072				p.T383M		Atlas-SNP	.											SYTL2,NS,carcinoma,+1,1	SYTL2	231	1	0			c.C1148T						PASS	.	G	,,,MET/THR,MET/THR	1923,2483	530.0+/-372.8	436,1051,716	53	54	54		,,,1148,1148	-0.9	0.8	11	dbSNP_83	54	5429,3167	629.7+/-398.3	1730,1969,599	yes	intron,intron,intron,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,81,81	2166,3020,1315	AA,AG,GG		36.8427,43.645,43.4549	,,,possibly-damaging,possibly-damaging	,,,383/1273,383/1257	85436352	7352,5650	2203	4298	6501	SO:0001627	intron_variant	54843	exon1			ATTTCCGTTTGAG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2586C>T	11.37:g.85436352G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	108	107	0.990741	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	1200	0.5494505494505495	204	0.4146341463414634	196	0.5414364640883977	323	0.5646853146853147	477	0.6292875989445911	G	0.463	-0.888140	0.02511	0.43645	0.631573	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.25579	1.79;1.79;1.79	6.16	-0.906	0.10524	.	0.743599	0.12813	N	0.437013	T	0.00012	0.0000	N	0.04508	-0.205	0.43857	P	0.0035410000000000164	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.37641	-0.9697	8	.	.	.	-6.2622	2.8743	0.05626	0.2165:0.4856:0.0993:0.1986	rs641393;rs17208805;rs52804408;rs58119009;rs641393	383;383;383	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	M	907;383;383	ENSP00000352065:T907M;ENSP00000346576:T383M;ENSP00000432694:T383M	.	T	-	2	0	SYTL2	85114000	0.000000	0.05858	0.819000	0.32651	0.225000	0.24961	-0.488000	0.06497	-0.026000	0.13895	-0.839000	0.03059	ACG	G|0.451;A|0.549	0.549	strong		0.473	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85436352	G	A	85436352	1	1	22	0	1	0	0	0	0	0	0	0	15480	1145	40	1		1	SYTL2	11	85436352	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	610	85436352	49570164	6367	11475										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85436500	85436500	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgagaatcttctgcagccaTctgaatcaaattctgtgtgc	8	9	5	2	rs580459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85436500T>C	ENST00000528231.1	-	7	1737				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.M858V|SYTL2_ENST00000354566.3_Missense_Mutation_p.M334V|SYTL2_ENST00000525423.1_Missense_Mutation_p.M334V|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTGCAGCCATCTGAATCAAA	0.463													T|||	3338	0.666534	0.8812	0.5706	5008	,	,		19951	0.6012		0.6551	False		,,,				2504	0.5235				p.M334V		Atlas-SNP	.											.	SYTL2	231	.	0			c.A1000G						PASS	.	T	,,,VAL/MET,VAL/MET	3631,775	753.6+/-412.4	1499,633,71	95	96	96		,,,1000,1000	1.7	0	11	dbSNP_83	96	5650,2948	668.6+/-402.6	1881,1888,530	yes	intron,intron,intron,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,21,21	3380,2521,601	CC,CT,TT		34.287,17.5897,28.6297	,,,benign,benign	,,,334/1273,334/1257	85436500	9281,3723	2203	4299	6502	SO:0001627	intron_variant	54843	exon1			CAGCCATCTGAAT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2438A>G	11.37:g.85436500T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	1480	0.6776556776556777	428	0.8699186991869918	223	0.6160220994475138	326	0.5699300699300699	503	0.6635883905013192	T	7.460	0.644420	0.14451	0.824103	0.65713	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26660	1.72;1.73;1.73	5.43	1.74	0.24563	.	0.842935	0.10717	N	0.642187	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.12156	0.007;0.007;0.007	T	0.15292	-1.0442	8	.	.	.	-0.0784	3.4297	0.07424	0.1717:0.2449:0.0:0.5834	rs580459;rs17810970;rs52803235;rs59688999;rs580459	334;334;334	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	V	858;334;334	ENSP00000352065:M858V;ENSP00000346576:M334V;ENSP00000432694:M334V	.	M	-	1	0	SYTL2	85114148	0.000000	0.05858	0.030000	0.17652	0.963000	0.63663	-2.079000	0.01369	0.490000	0.27771	0.533000	0.62120	ATG	T|0.304;C|0.696	0.696	strong		0.463	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85436500	T	C	85436500	1	2	22	0	1	0	0	0	0	0	0	0	15480	1435	50	2		2	SYTL2	11	85436500	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	148	85436500	49570016	6368	11476										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85436868	85436868	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttcttcctcagtatcaGcaaaatctgttttttgaggc	7	9	4	2	rs597480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85436868G>C	ENST00000528231.1	-	7	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.A735G|SYTL2_ENST00000354566.3_Missense_Mutation_p.A211G|SYTL2_ENST00000525423.1_Missense_Mutation_p.A211G|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGTATCAGCAAAATCTGT	0.398													G|||	2613	0.521765	0.4077	0.4986	5008	,	,		21672	0.5972		0.6282	False		,,,				2504	0.5051				p.A211G		Atlas-SNP	.											.	SYTL2	231	.	0			c.C632G						PASS	.	G	,,,GLY/ALA,GLY/ALA	1927,2479	547.8+/-377.4	436,1055,712	147	133	138		,,,632,632	3	0	11	dbSNP_83	138	5436,3162	655.2+/-401.2	1734,1968,597	yes	intron,intron,intron,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,60,60	2170,3023,1309	CC,CG,GG		36.776,43.7358,43.379	,,,possibly-damaging,possibly-damaging	,,,211/1273,211/1257	85436868	7363,5641	2203	4299	6502	SO:0001627	intron_variant	54843	exon1			GTATCAGCAAAAT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2070C>G	11.37:g.85436868G>C		Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	200	200	1	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	1202	0.5503663003663004	207	0.42073170731707316	195	0.5386740331491713	323	0.5646853146853147	477	0.6292875989445911	G	11.68	1.709859	0.30322	0.437358	0.63224	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.33654	1.4;1.41;1.41	6.03	2.97	0.34412	.	0.135236	0.33792	N	0.004544	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	P;P;P	0.37370	0.592;0.592;0.592	B;B;B	0.40199	0.322;0.322;0.322	T	0.37337	-0.9710	8	.	.	.	-0.2866	5.1608	0.15060	0.2405:0.1501:0.6094:0.0	rs597480;rs17810982;rs56612956;rs597480	211;211;211	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	G	735;211;211	ENSP00000352065:A735G;ENSP00000346576:A211G;ENSP00000432694:A211G	.	A	-	2	0	SYTL2	85114516	0.000000	0.05858	0.009000	0.14445	0.899000	0.52679	0.469000	0.22067	0.849000	0.35215	0.655000	0.94253	GCT	G|0.491;C|0.509	0.509	strong		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85436868	G	C	85436868	1	2	22	0	1	0	0	0	0	0	0	0	15480	971	34	4		4	SYTL2	11	85436868	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	368	85436868	49569648	6369	11477										
SYTL2	54843	hgsc.bcm.edu	37	chr11	85447611	85447611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatttttagtttgttgtgaTgagtgaccttctggcaactt	9	6	2	3	rs680498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85447611T>C	ENST00000528231.1	-	5	793	c.516A>G	c.(514-516)tcA>tcG	p.S172S	SYTL2_ENST00000389960.4_Silent_p.S172S|SYTL2_ENST00000316356.4_Silent_p.S173S|SYTL2_ENST00000527523.1_Silent_p.S124S|SYTL2_ENST00000524452.1_Silent_p.S172S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	172					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGTTGTGATGAGTGACCTT	0.313													C|||	3275	0.653954	0.823	0.5677	5008	,	,		16958	0.6171		0.6551	False		,,,				2504	0.5235				p.S173S		Atlas-SNP	.											SYTL2_ENST00000316356,bladder,carcinoma,-1,1	SYTL2	231	1	0			c.A519G						PASS	.	C	,,	3463,943	356.9+/-313.7	1363,737,103	128	126	127		516,519,516	2.2	0.3	11	dbSNP_83	127	5655,2941	456.2+/-364.0	1884,1887,527	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3	,,	3247,2624,630	CC,CT,TT		34.2136,21.4026,29.8723	,,	172/935,173/936,172/911	85447611	9118,3884	2203	4298	6501	SO:0001819	synonymous_variant	54843	exon5			TTGTGATGAGTGA	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.516A>G	11.37:g.85447611T>C		Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_001162953	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																			C|0.687;T|0.313	0.687	strong		0.313	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85447611	T	C	85447611	2	2	22	1	0	0	0	0	0	0	0	1	15480	1451	51	2		2	SYTL2	11	85447611	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10743	85447611	49558905	6370	11478										
CCDC83	220047	hgsc.bcm.edu	37	chr11	85627108	85627108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacccacagaagtagaaagTagagacttgatgtcctcatc	8	10	1	4	rs7927222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:85627108T>C	ENST00000342404.3	+	10	1128	c.912T>C	c.(910-912)agT>agC	p.S304S	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000280245.4_Silent_p.S335S|CCDC83_ENST00000376067.1_Silent_p.S204S			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	304										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGTAGAAAGTAGAGACTTGA	0.323													T|||	631	0.125998	0.1399	0.1585	5008	,	,		19840	0.0		0.2604	False		,,,				2504	0.0757				p.S335S		Atlas-SNP	.											.	CCDC83	48	.	0			c.T1005C						PASS	.	T		662,3744	280.8+/-275.6	57,548,1598	113	114	114		1005	-10.3	0	11	dbSNP_116	114	2106,6492	363.6+/-333.2	275,1556,2468	no	coding-synonymous	CCDC83	NM_173556.3		332,2104,4066	CC,CT,TT		24.4941,15.025,21.2858		335/445	85627108	2768,10236	2203	4299	6502	SO:0001819	synonymous_variant	220047	exon11			AGAAAGTAGAGAC	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.912T>C	11.37:g.85627108T>C		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	172	78	0.453488	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Silent	SNP	ENST00000342404.3	37		320	0.14652014652014653	61	0.12398373983739837	64	0.17679558011049723	0	0.0	195	0.25725593667546176	T	4.888	0.165049	0.09339	0.15025	0.244941	ENSG00000150676	ENST00000526729	.	.	.	5.17	-10.3	0.00346	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.15867	-1.0422	3	.	.	.	0.2638	4.5566	0.12140	0.2081:0.4914:0.1158:0.1848	rs7927222;rs17744860;rs57862723;rs7927222	.	.	.	A	209	.	.	V	+	2	0	CCDC83	85304756	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.837000	0.01689	-1.808000	0.01234	-0.468000	0.05107	GTA	T|0.812;C|0.188	0.188	strong		0.323	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		C	85627108	T	C	85627108	2	2	22	1	0	0	0	0	0	0	0	1	2857	1635	57	2		2	CCDC83	11	85627108	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	179497	85627108	49379408	6371	11479										
ME3	10873	hgsc.bcm.edu	37	chr11	86267633	86267633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccatagtgctgacaggcCagccccacggtaggcgtgta	14	12	0	1	rs17211115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:86267633C>T	ENST00000393324.3	-	3	682	c.429G>A	c.(427-429)ctG>ctA	p.L143L	ME3_ENST00000543262.1_Silent_p.L143L|ME3_ENST00000323418.6_Silent_p.L81L|ME3_ENST00000359636.2_Silent_p.L143L|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	143					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GCTGACAGGCCAGCCCCACGG	0.582													C|||	1380	0.275559	0.1921	0.3487	5008	,	,		18963	0.5317		0.1799	False		,,,				2504	0.1708				p.L143L		Atlas-SNP	.											.	ME3	70	.	0			c.G429A						PASS	.	C	,,	819,3585	325.6+/-299.2	67,685,1450	75	60	65		429,429,429	5.1	1	11	dbSNP_123	65	1448,7150	276.9+/-292.6	110,1228,2961	no	coding-synonymous,coding-synonymous,coding-synonymous	ME3	NM_001014811.1,NM_001161586.1,NM_006680.2	,,	177,1913,4411	TT,TC,CC		16.8411,18.5967,17.4358	,,	143/605,143/605,143/605	86267633	2267,10735	2202	4299	6501	SO:0001819	synonymous_variant	10873	exon4			ACAGGCCAGCCCC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.429G>A	11.37:g.86267633C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_006680	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																			C|0.784;T|0.216	0.216	strong		0.582	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			T	86267633	C	T	86267633	2	4	22	1	0	0	0	0	0	0	0	1	9419	581	21	2		2	ME3	11	86267633	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	640525	86267633	48738883	6372	11480										
CTSC	1075	hgsc.bcm.edu	37	chr11	88027209	88027209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgtggctgccactgctaTgctctcaattgcacactcat	9	12	2	0	rs3888798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:88027209T>C	ENST00000227266.5	-	7	1471	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	453			I -> V (rare polymorphism; dbSNP:rs3888798). {ECO:0000269|PubMed:11180012}.		aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCACTGCTATGCTCTCAATT	0.463													T|||	420	0.0838658	0.0802	0.1023	5008	,	,		16827	0.1151		0.0517	False		,,,				2504	0.0767				p.I453V		Atlas-SNP	.											.	CTSC	46	.	0			c.A1357G	GRCh37	CM086741	CTSC	M	rs3888798	PASS	.	T	VAL/ILE	302,4100	163.6+/-195.4	11,280,1910	87	82	84		1357	6	1	11	dbSNP_108	84	332,8266	115.7+/-175.5	6,320,3973	yes	missense	CTSC	NM_001814.4	29	17,600,5883	CC,CT,TT		3.8614,6.8605,4.8769	possibly-damaging	453/464	88027209	634,12366	2201	4299	6500	SO:0001583	missense	1075	exon7			CTGCTATGCTCTC	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1357A>G	11.37:g.88027209T>C	ENSP00000227266:p.Ile453Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	29	0.408451	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	186	0.08516483516483517	35	0.07113821138211382	27	0.07458563535911603	75	0.13111888111888112	49	0.06464379947229551	T	24.7	4.556481	0.86231	0.068605	0.038614	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.86627	-2.15	5.97	5.97	0.96955	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.06280	0.0162	N	0.20574	0.59	0.80722	D	1	P;B	0.39759	0.687;0.444	P;B	0.52909	0.713;0.307	T	0.53585	-0.8418	9	.	.	.	.	16.4504	0.83984	0.0:0.0:0.0:1.0	rs3888798;rs4581448;rs56447948;rs3888798	436;453	B4DJQ8;P53634	.;CATC_HUMAN	V	436;453	ENSP00000227266:I453V	.	I	-	1	0	CTSC	87666857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.156000	0.71840	2.288000	0.76882	0.533000	0.62120	ATA	T|0.939;C|0.061	0.061	strong		0.463	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		C	88027209	T	C	88027209	3	2	22	1	0	0	0	0	1	0	0	0	4031	1464	51	2	38	2	CTSC	11	88027209	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1759576	88027209	46979307	6373	11481										
CTSC	1075	hgsc.bcm.edu	37	chr11	88027393	88027393	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaaagggtctcttagaccAgtgtggtggtagatcccctt	12	8	1	3	rs17594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:88027393A>C	ENST00000227266.5	-	7	1287	c.1173T>G	c.(1171-1173)acT>acG	p.T391T		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	391					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCTTAGACCAGTGTGGTGGT	0.488													A|||	429	0.0856629	0.0802	0.1023	5008	,	,		19653	0.1151		0.0507	False		,,,				2504	0.0869				p.T391T		Atlas-SNP	.											.	CTSC	46	.	0			c.T1173G						PASS	.	A		302,4100	163.6+/-195.4	11,280,1910	140	113	122		1173	-5.8	1	11	dbSNP_63	122	326,8272	114.6+/-174.5	5,316,3978	no	coding-synonymous	CTSC	NM_001814.4		16,596,5888	CC,CA,AA		3.7916,6.8605,4.8308		391/464	88027393	628,12372	2201	4299	6500	SO:0001819	synonymous_variant	1075	exon7			TAGACCAGTGTGG	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1173T>G	11.37:g.88027393A>C		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	192	79	0.411458	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	CCDS8282.1																																																																																			A|0.942;C|0.058	0.058	strong		0.488	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		C	88027393	A	C	88027393	2	2	22	1	0	0	0	0	0	0	0	1	4031	175	7	5		5	CTSC	11	88027393	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	184	88027393	46979123	6374	11482										
GRM5	2915	hgsc.bcm.edu	37	chr11	88337922	88337922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattctcatcgaataggatcGtatctccagaaaccccagta	6	12	2	1	rs61741175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:88337922G>A	ENST00000305447.4	-	4	1507	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	GRM5_ENST00000418177.2_Missense_Mutation_p.T453M|GRM5_ENST00000305432.5_Missense_Mutation_p.T453M|GRM5_ENST00000393297.1_Missense_Mutation_p.T453M|GRM5_ENST00000455756.2_Missense_Mutation_p.T453M	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	453					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAATAGGATCGTATCTCCAGA	0.448													G|||	136	0.0271565	0.0946	0.0144	5008	,	,		20219	0.0		0.001	False		,,,				2504	0.0				p.T453M		Atlas-SNP	.											GRM5_ENST00000418177,right_upper_lobe,carcinoma,+1,2	GRM5	414	2	0			c.C1358T						PASS	.	G	MET/THR,MET/THR	352,4050	181.9+/-209.8	14,324,1863	58	60	59		1358,1358	2.1	1	11	dbSNP_129	59	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense	GRM5	NM_000842.3,NM_001143831.2	81,81	14,326,6160	AA,AG,GG		0.0233,7.9964,2.7231	benign,benign	453/1181,453/1213	88337922	354,12646	2201	4299	6500	SO:0001583	missense	2915	exon5			AGGATCGTATCTC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1358C>T	11.37:g.88337922G>A	ENSP00000306138:p.Thr453Met	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	47	0.02152014652014652	43	0.08739837398373984	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	9.419	1.082463	0.20309	0.079964	2.33E-4	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.77	2.13	0.27403	Extracellular ligand-binding receptor (1);	0.320592	0.41294	N	0.000913	T	0.10121	0.0248	L	0.45137	1.4	0.22479	N	0.999063	B;B	0.19935	0.04;0.002	B;B	0.15484	0.013;0.002	T	0.12041	-1.0563	9	.	.	.	.	9.7316	0.40363	0.7425:0.0:0.2575:0.0	.	453;453	P41594-2;P41594	.;GRM5_HUMAN	M	453	ENSP00000402912:T453M;ENSP00000405690:T453M;ENSP00000305905:T453M;ENSP00000306138:T453M;ENSP00000376975:T453M	.	T	-	2	0	GRM5	87977570	0.706000	0.27856	1.000000	0.80357	0.863000	0.49368	0.371000	0.20450	0.461000	0.27071	-1.721000	0.00707	ACG	G|0.972;A|0.028	0.028	strong		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88337922	G	A	88337922	3	1	22	1	0	0	0	0	1	0	0	0	6800	1145	40	1	2304	1	GRM5	11	88337922	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	310529	88337922	46668594	6375	11483										
GRM5	2915	hgsc.bcm.edu	37	chr11	88338074	88338074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggccatcgaatagatggcGttgatcacaaatcccatttt	8	9	1	2	rs61745770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:88338074G>A	ENST00000305447.4	-	4	1355	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	GRM5_ENST00000418177.2_Silent_p.N402N|GRM5_ENST00000305432.5_Silent_p.N402N|GRM5_ENST00000393297.1_Silent_p.N402N|GRM5_ENST00000455756.2_Silent_p.N402N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	402					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATAGATGGCGTTGATCACAA	0.458													g|||	136	0.0271565	0.0946	0.0144	5008	,	,		20660	0.0		0.001	False		,,,				2504	0.0				p.N402N		Atlas-SNP	.											.	GRM5	414	.	0			c.C1206T						PASS	.	A	,	353,4049	183.3+/-210.9	14,325,1862	101	86	91		1206,1206	-2.1	1	11	dbSNP_129	91	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GRM5	NM_000842.3,NM_001143831.2	,	14,325,6161	AA,AG,GG		0.0,8.0191,2.7154	,	402/1181,402/1213	88338074	353,12647	2201	4299	6500	SO:0001819	synonymous_variant	2915	exon5			GATGGCGTTGATC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1206C>T	11.37:g.88338074G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	40	0.56338	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																			G|0.971;A|0.029	0.029	strong		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88338074	G	A	88338074	2	1	22	1	0	0	0	0	0	0	0	1	6800	1136	40	1		1	GRM5	11	88338074	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152	88338074	46668442	6376	11484										
TRIM49	57093	hgsc.bcm.edu	37	chr11	89531619	89531619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caattccaggagtcccctacAtggacctcccagtaatattt	6	13	0	0	rs11824402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:89531619A>G	ENST00000329758.1	-	8	1366	c.1038T>C	c.(1036-1038)caT>caC	p.H346H	TRIM49_ENST00000532501.2_Silent_p.H269H	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGTCCCCTACATGGACCTCCC	0.448																																					p.H346H		Atlas-SNP	.											.	TRIM49	45	.	0			c.T1038C						PASS	.						31	36	35					11																	89531619		2139	4257	6396	SO:0001819	synonymous_variant	57093	exon8			CCCTACATGGACC	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1038T>C	11.37:g.89531619A>G		Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	180	84	0.466667	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	CCDS8287.1																																																																																			.	.	weak		0.448	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		G	89531619	A	G	89531619	2	3	22	1	0	0	0	0	0	0	0	1	16521	214	8	2		2	TRIM49	11	89531619	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1193545	89531619	45474897	6377	11485										
FAT3	120114	hgsc.bcm.edu	37	chr11	92088177	92088177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgatccagatcttggaCtggggggtcaagtgcgctat	13	10	2	2	rs7479732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92088177C>T	ENST00000298047.6	+	1	2916	c.2899C>T	c.(2899-2901)Ctg>Ttg	p.L967L	FAT3_ENST00000525166.1_Silent_p.L817L|FAT3_ENST00000541502.1_Silent_p.L967L|FAT3_ENST00000409404.2_Silent_p.L967L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	967	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATCTTGGACTGGGGGGTCA	0.458										TCGA Ovarian(4;0.039)			T|||	1758	0.351038	0.8079	0.1801	5008	,	,		19090	0.1746		0.2038	False		,,,				2504	0.1881				p.L967L		Atlas-SNP	.											FAT3_ENST00000409404,colon,carcinoma,0,2	FAT3	1822	2	0			c.C2899T						PASS	.	T		2521,1247		857,807,220	71	70	70		2899	2.5	1	11	dbSNP_116	70	1774,6460		199,1376,2542	no	coding-synonymous	FAT3	NM_001008781.2		1056,2183,2762	TT,TC,CC		21.5448,33.0945,35.7857		967/4558	92088177	4295,7707	1884	4117	6001	SO:0001819	synonymous_variant	120114	exon1			CTTGGACTGGGGG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2899C>T	11.37:g.92088177C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				C|0.697;T|0.303	0.303	strong		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92088177	C	T	92088177	2	4	22	1	0	0	0	0	0	0	0	1	5691	564	20	2		2	FAT3	11	92088177	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2556558	92088177	42918339	6378	11486										
FAT3	120114	hgsc.bcm.edu	37	chr11	92534829	92534829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgaaggacctagatcacGagacagaccccacattcacc	7	15	2	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92534829G>A	ENST00000298047.6	+	9	8667	c.8650G>A	c.(8650-8652)Gag>Aag	p.E2884K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2884	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2884K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAGATCACGAGACAGACCC	0.512										TCGA Ovarian(4;0.039)																											p.E2884K		Atlas-SNP	.											FAT3_ENST00000409404,extremity,malignant_melanoma,0,1	FAT3	1822	1	1	Substitution - Missense(1)	skin(1)	c.G8650A						scavenged	.						89	93	92					11																	92534829		2109	4228	6337	SO:0001583	missense	120114	exon9			GATCACGAGACAG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8650G>A	11.37:g.92534829G>A	ENSP00000298047:p.Glu2884Lys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	117	2	0.017094	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.931088	0.92389	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.72394	-0.65;-0.65;-0.65	6.04	6.04	0.98038	.	.	.	.	.	D	0.89591	0.6759	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89840	0.4002	9	0.42905	T	0.14	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2884	Q8TDW7-3	.	K	2884;2884;2734	ENSP00000298047:E2884K;ENSP00000387040:E2884K;ENSP00000432586:E2734K	ENSP00000298047:E2884K	E	+	1	0	FAT3	92174477	1.000000	0.71417	0.973000	0.42090	0.907000	0.53573	9.787000	0.99055	2.873000	0.98535	0.563000	0.77884	GAG	.	.	none		0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92534829	G	A	92534829	3	1	22	1	0	0	0	0	1	0	0	0	5691	1059	37	1	8684	1	FAT3	11	92534829	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	446652	92534829	42471687	6379	11487										
FAT3	120114	hgsc.bcm.edu	37	chr11	92534968	92534968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcgcgcaggaagtgtaccGagggaatgtgaaggagagcg	17	7	0	2	rs370539148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92534968G>A	ENST00000298047.6	+	9	8806	c.8789G>A	c.(8788-8790)cGa>cAa	p.R2930Q	FAT3_ENST00000525166.1_Missense_Mutation_p.R2780Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R2930Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2930	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGTGTACCGAGGGAATGTG	0.552										TCGA Ovarian(4;0.039)			G|||	4	0.000798722	0.003	0.0	5008	,	,		21033	0.0		0.0	False		,,,				2504	0.0				p.R2930Q		Atlas-SNP	.											.	FAT3	1822	.	0			c.G8789A						PASS	.	G	GLN/ARG	7,4033		0,7,2013	94	93	93		8789	5.1	1	11		93	0,8374		0,0,4187	no	missense	FAT3	NM_001008781.2	43	0,7,6200	AA,AG,GG		0.0,0.1733,0.0564	possibly-damaging	2930/4558	92534968	7,12407	2020	4187	6207	SO:0001583	missense	120114	exon9			TGTACCGAGGGAA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8789G>A	11.37:g.92534968G>A	ENSP00000298047:p.Arg2930Gln	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	90	49	0.544444	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	16.93	3.257586	0.59321	0.001733	0.0	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01725	4.67;4.67;4.67	6.04	5.08	0.68730	.	.	.	.	.	T	0.02455	0.0075	N	0.20766	0.605	0.80722	D	1	D	0.59357	0.985	P	0.52267	0.694	T	0.71206	-0.4661	9	0.24483	T	0.36	.	10.4452	0.44490	0.157:0.0:0.843:0.0	.	2930	Q8TDW7-3	.	Q	2930;2930;2780	ENSP00000298047:R2930Q;ENSP00000387040:R2930Q;ENSP00000432586:R2780Q	ENSP00000298047:R2930Q	R	+	2	0	FAT3	92174616	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.983000	0.40648	1.433000	0.47394	0.563000	0.77884	CGA	.	.	weak		0.552	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92534968	G	A	92534968	3	1	22	1	0	0	0	0	1	0	0	0	5691	1058	37	1	8823	1	FAT3	11	92534968	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139	92534968	42471548	6380	11488										
FAT3	120114	hgsc.bcm.edu	37	chr11	92538351	92538351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaaggtttgctctgggcCtggtgcaaagtgagtggaag	18	5	1	1	rs56843577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92538351C>T	ENST00000298047.6	+	10	8946	c.8929C>T	c.(8929-8931)Ctg>Ttg	p.L2977L	FAT3_ENST00000525166.1_Silent_p.L2827L|FAT3_ENST00000409404.2_Silent_p.L2977L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2977	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTCTGGGCCTGGTGCAAAG	0.428										TCGA Ovarian(4;0.039)			C|||	81	0.0161741	0.059	0.0043	5008	,	,		19268	0.0		0.0	False		,,,				2504	0.0				p.L2977L		Atlas-SNP	.											.	FAT3	1822	.	0			c.C8929T						PASS	.	C		197,3563		4,189,1687	80	81	81		8929	5.1	1	11	dbSNP_129	81	0,8218		0,0,4109	no	coding-synonymous	FAT3	NM_001008781.2		4,189,5796	TT,TC,CC		0.0,5.2394,1.6447		2977/4558	92538351	197,11781	1880	4109	5989	SO:0001819	synonymous_variant	120114	exon10			CTGGGCCTGGTGC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8929C>T	11.37:g.92538351C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	178	81	0.455056	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				C|0.988;T|0.012	0.012	strong		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92538351	C	T	92538351	2	4	22	1	0	0	0	0	0	0	0	1	5691	680	24	2		2	FAT3	11	92538351	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3383	92538351	42468165	6381	11489										
FAT3	120114	hgsc.bcm.edu	37	chr11	92538422	92538422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaggacatttactttctCaatatcactgccactgatgg	7	10	2	1	rs59542280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92538422C>T	ENST00000298047.6	+	10	9017	c.9000C>T	c.(8998-9000)ctC>ctT	p.L3000L	FAT3_ENST00000525166.1_Silent_p.L2850L|FAT3_ENST00000409404.2_Silent_p.L3000L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3000	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTACTTTCTCAATATCACTG	0.488										TCGA Ovarian(4;0.039)			C|||	78	0.0155751	0.0567	0.0043	5008	,	,		16467	0.0		0.0	False		,,,				2504	0.0				p.L3000L		Atlas-SNP	.											.	FAT3	1822	.	0			c.C9000T						PASS	.	C		199,3665		5,189,1738	82	84	83		9000	4.2	1	11	dbSNP_129	83	0,8304		0,0,4152	no	coding-synonymous	FAT3	NM_001008781.2		5,189,5890	TT,TC,CC		0.0,5.1501,1.6354		3000/4558	92538422	199,11969	1932	4152	6084	SO:0001819	synonymous_variant	120114	exon10			CTTTCTCAATATC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9000C>T	11.37:g.92538422C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	140	65	0.464286	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				C|0.988;T|0.012	0.012	strong		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92538422	C	T	92538422	2	4	22	1	0	0	0	0	0	0	0	1	5691	813	29	2		2	FAT3	11	92538422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	71	92538422	42468094	6382	11490										
FAT3	120114	hgsc.bcm.edu	37	chr11	92568196	92568196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcccaagttcagccaagaCgtctacagtgcggttatcag	9	13	3	1	rs374591402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92568196C>T	ENST00000298047.6	+	14	10049	c.10032C>T	c.(10030-10032)gaC>gaT	p.D3344D	FAT3_ENST00000525166.1_Silent_p.D3194D|FAT3_ENST00000409404.2_Silent_p.D3344D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3344	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGCCAAGACGTCTACAGTG	0.527										TCGA Ovarian(4;0.039)			C|||	4	0.000798722	0.0023	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.001				p.D3344D		Atlas-SNP	.											.	FAT3	1822	.	0			c.C10032T						PASS	.	C		7,3905		0,7,1949	55	55	55		10032	-1.9	1	11		55	0,8324		0,0,4162	no	coding-synonymous	FAT3	NM_001008781.2		0,7,6111	TT,TC,CC		0.0,0.1789,0.0572		3344/4558	92568196	7,12229	1956	4162	6118	SO:0001819	synonymous_variant	120114	exon14			CCAAGACGTCTAC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10032C>T	11.37:g.92568196C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	150	83	0.553333	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.	.	weak		0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92568196	C	T	92568196	2	4	22	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92568196	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29774	92568196	42438320	6383	11491										
FAT3	120114	hgsc.bcm.edu	37	chr11	92590448	92590448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggacatgcagtgtgtcAgttatgaagccagcaggaga	15	7	1	2	rs4753069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92590448A>G	ENST00000298047.6	+	19	11451	c.11434A>G	c.(11434-11436)Agt>Ggt	p.S3812G	FAT3_ENST00000525166.1_Missense_Mutation_p.S3662G|FAT3_ENST00000409404.2_Missense_Mutation_p.S3812G|FAT3_ENST00000533797.1_Missense_Mutation_p.S147G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3812	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		S -> G (in dbSNP:rs4753069). {ECO:0000269|PubMed:11811999}.		homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGTGTGTCAGTTATGAAGC	0.537										TCGA Ovarian(4;0.039)			G|||	4149	0.828474	0.9191	0.7968	5008	,	,		19078	0.6706		0.8121	False		,,,				2504	0.908				p.S3812G		Atlas-SNP	.											.	FAT3	1822	.	0			c.A11434G						PASS	.	G	GLY/SER	3706,356		1694,318,19	116	123	121		11434	4.1	0.4	11	dbSNP_111	121	6781,1615		2754,1273,171	yes	missense	FAT3	NM_001008781.2	56	4448,1591,190	GG,GA,AA		19.2354,8.7642,15.8212	benign	3812/4558	92590448	10487,1971	2031	4198	6229	SO:0001583	missense	120114	exon19			TGTGTCAGTTATG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11434A>G	11.37:g.92590448A>G	ENSP00000298047:p.Ser3812Gly	Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	122	121	0.991803	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		1749	0.8008241758241759	458	0.9308943089430894	288	0.7955801104972375	394	0.6888111888111889	609	0.8034300791556728	G	4.059	0.008696	0.07912	0.912358	0.807646	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.95	4.1	0.47936	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.02315	-0.6	0.09310	P	0.9999999999902903	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27297	-1.0078	8	0.14252	T	0.57	.	11.5604	0.50774	0.1905:0.0:0.8095:0.0	rs4753069;rs52805125;rs56954308;rs4753069	3812;3812	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	G	3812;3812;3662;147	ENSP00000298047:S3812G;ENSP00000387040:S3812G;ENSP00000432586:S3662G;ENSP00000436399:S147G	ENSP00000298047:S3812G	S	+	1	0	FAT3	92230096	0.995000	0.38212	0.419000	0.26584	0.944000	0.59088	2.301000	0.43628	0.446000	0.26666	-1.551000	0.00897	AGT	A|0.184;G|0.816	0.816	strong		0.537	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92590448	A	G	92590448	3	3	22	1	0	0	0	0	1	0	0	0	5691	188	7	3	11508	3	FAT3	11	92590448	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22252	92590448	42416068	6384	11492										
FAT3	120114	hgsc.bcm.edu	37	chr11	92616006	92616006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaactgcacgccgggctaCgtgggccagtactgcgggct	15	13	0	0	rs58474174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92616006C>T	ENST00000298047.6	+	23	12401	c.12384C>T	c.(12382-12384)taC>taT	p.Y4128Y	FAT3_ENST00000525166.1_Silent_p.Y3978Y|FAT3_ENST00000409404.2_Silent_p.Y4128Y|FAT3_ENST00000533797.1_Silent_p.Y463Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4128	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGCCGGGCTACGTGGGCCAGT	0.632										TCGA Ovarian(4;0.039)			C|||	182	0.0363419	0.1309	0.0115	5008	,	,		15044	0.0		0.001	False		,,,				2504	0.0				p.Y4128Y		Atlas-SNP	.											.	FAT3	1822	.	0			c.C12384T						PASS	.	C		392,3806		19,354,1726	62	79	73		12384	1.9	1	11	dbSNP_129	73	2,8424		0,2,4211	no	coding-synonymous	FAT3	NM_001008781.2		19,356,5937	TT,TC,CC		0.0237,9.3378,3.121		4128/4558	92616006	394,12230	2099	4213	6312	SO:0001819	synonymous_variant	120114	exon23			GGGCTACGTGGGC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12384C>T	11.37:g.92616006C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	115	47	0.408696	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				C|0.976;T|0.024	0.024	strong		0.632	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92616006	C	T	92616006	2	4	22	1	0	0	0	0	0	0	0	1	5691	547	19	1		1	FAT3	11	92616006	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25558	92616006	42390510	6385	11493										
FAT3	120114	hgsc.bcm.edu	37	chr11	92623877	92623877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgcctcctcctctcccGgaggacttcccagaccaata	7	18	1	1	rs12277422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92623877G>A	ENST00000298047.6	+	27	13385	c.13368G>A	c.(13366-13368)ccG>ccA	p.P4456P	FAT3_ENST00000525166.1_Silent_p.P4306P|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Silent_p.P4424P|FAT3_ENST00000533797.1_Silent_p.P759P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4456	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCTCTCCCGGAGGACTTCC	0.577										TCGA Ovarian(4;0.039)			G|||	1133	0.226238	0.2148	0.2954	5008	,	,		17038	0.2381		0.2455	False		,,,				2504	0.1605				p.P4424P		Atlas-SNP	.											.	FAT3	1822	.	0			c.G13272A						PASS	.	G		884,3136		90,704,1216	30	34	33		13272	-11.3	0	11	dbSNP_120	33	2081,6257		268,1545,2356	yes	coding-synonymous	FAT3	NM_001008781.2		358,2249,3572	AA,AG,GG		24.958,21.99,23.9926		4424/4558	92623877	2965,9393	2010	4169	6179	SO:0001819	synonymous_variant	120114	exon25			TCTCCCGGAGGAC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13368G>A	11.37:g.92623877G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				A|0.259;G|0.741	0.259	strong		0.577	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92623877	G	A	92623877	2	1	22	1	0	0	0	0	0	0	0	1	5691	1103	39	1		1	FAT3	11	92623877	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7871	92623877	42382639	6386	11494										
FAT3	120114	hgsc.bcm.edu	37	chr11	92624276	92624276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcagcatcagactcaagtGtagacatcacatcttgggta	8	10	5	2	rs371790138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:92624276G>A	ENST00000298047.6	+	27	13784	c.13767G>A	c.(13765-13767)gtG>gtA	p.V4589V	FAT3_ENST00000525166.1_Silent_p.V4439V|FAT3_ENST00000409404.2_Silent_p.V4557V|FAT3_ENST00000533797.1_Silent_p.V892V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4589					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACTCAAGTGTAGACATCAC	0.507										TCGA Ovarian(4;0.039)			G|||	3	0.000599042	0.0023	0.0	5008	,	,		20727	0.0		0.0	False		,,,				2504	0.0				p.V4557V		Atlas-SNP	.											.	FAT3	1822	.	0			c.G13671A						PASS	.	G		9,4135		0,9,2063	43	45	44		13671	3.8	1	11		44	0,8398		0,0,4199	no	coding-synonymous	FAT3	NM_001008781.2		0,9,6262	AA,AG,GG		0.0,0.2172,0.0718		4557/4558	92624276	9,12533	2072	4199	6271	SO:0001819	synonymous_variant	120114	exon25			TCAAGTGTAGACA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13767G>A	11.37:g.92624276G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.	.	weak		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92624276	G	A	92624276	2	1	22	1	0	0	0	0	0	0	0	1	5691	1364	48	2		2	FAT3	11	92624276	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	399	92624276	42382240	6387	11495										
HEPHL1	341208	hgsc.bcm.edu	37	chr11	93844722	93844722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaacaggattccttactcCaccacatctcctggagtggc	8	14	1	0	rs76467816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:93844722C>T	ENST00000315765.9	+	19	3236	c.3228C>T	c.(3226-3228)tcC>tcT	p.S1076S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1076	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCCTTACTCCACCACATCTC	0.428													C|||	147	0.029353	0.1067	0.0086	5008	,	,		20649	0.0		0.0	False		,,,				2504	0.0				p.S1076S		Atlas-SNP	.											.	HEPHL1	144	.	0			c.C3228T						PASS	.	C		310,3668		15,280,1694	48	47	48		3228	-4	0.9	11	dbSNP_131	48	1,8347		0,1,4173	no	coding-synonymous	HEPHL1	NM_001098672.1		15,281,5867	TT,TC,CC		0.012,7.7929,2.5231		1076/1160	93844722	311,12015	1989	4174	6163	SO:0001819	synonymous_variant	341208	exon19			TTACTCCACCACA	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3228C>T	11.37:g.93844722C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	194	193	0.994845	NM_001098672	Q3C1W7	Silent	SNP	ENST00000315765.9	37	CCDS44710.1																																																																																			C|0.979;T|0.021	0.021	strong		0.428	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93844722	C	T	93844722	2	4	22	1	0	0	0	0	0	0	0	1	7055	581	21	2		2	HEPHL1	11	93844722	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1220446	93844722	41161794	6388	11496										
PANX1	24145	hgsc.bcm.edu	37	chr11	93913392	93913392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtctgcagagatgagagaGgagcaggggaaccagacggc	17	7	1	4	rs74549886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:93913392G>T	ENST00000227638.3	+	4	1555	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	PANX1_ENST00000436171.2_Missense_Mutation_p.E390D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	390					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	AGATGAGAGAGGAGCAGGGGA	0.532													G|||	180	0.0359425	0.1286	0.0115	5008	,	,		17647	0.0		0.002	False		,,,				2504	0.0				p.E390D		Atlas-SNP	.											.	PANX1	38	.	0			c.G1170T						PASS	.	G	ASP/GLU	484,3918	225.9+/-241.6	21,442,1738	68	64	66		1170	1	0	11	dbSNP_131	66	6,8590	4.3+/-15.6	0,6,4292	yes	missense	PANX1	NM_015368.3	45	21,448,6030	TT,TG,GG		0.0698,10.995,3.7698	benign	390/427	93913392	490,12508	2201	4298	6499	SO:0001583	missense	24145	exon4			GAGAGAGGAGCAG	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1170G>T	11.37:g.93913392G>T	ENSP00000227638:p.Glu390Asp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_015368	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	CCDS8296.1	62	0.028388278388278388	57	0.11585365853658537	5	0.013812154696132596	0	0.0	0	0.0	G	12.51	1.958933	0.34565	0.10995	6.98E-4	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.19250	2.17;2.16	5.22	0.965	0.19661	.	1.495480	0.03723	N	0.252178	T	0.00300	0.0009	M	0.67953	2.075	0.09310	N	1	B;B	0.32573	0.376;0.29	B;B	0.29785	0.049;0.107	T	0.16600	-1.0397	10	0.39692	T	0.17	-15.6543	4.6163	0.12428	0.3593:0.2803:0.3603:0.0	.	390;390	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	D	390	ENSP00000227638:E390D;ENSP00000411461:E390D	ENSP00000227638:E390D	E	+	3	2	PANX1	93553040	0.059000	0.20769	0.005000	0.12908	0.026000	0.11368	0.183000	0.16919	0.606000	0.29965	0.655000	0.94253	GAG	G|0.968;T|0.032	0.032	strong		0.532	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		T	93913392	G	T	93913392	3	4	22	1	0	0	0	0	1	0	0	0	11420	991	35	4	1184	4	PANX1	11	93913392	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68670	93913392	41093124	6389	11497										
FUT4	2526	hgsc.bcm.edu	37	chr11	94278713	94278713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctccctggcctcgtacCtgcttttcctcgaccgcaac	6	20	0	0	rs2230274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94278713C>T	ENST00000358752.2	+	1	1697	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	472					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCCTCGTACCTGCTTTTCCT	0.652													C|||	356	0.0710863	0.034	0.1369	5008	,	,		15600	0.0536		0.0586	False		,,,				2504	0.1053				p.L472L		Atlas-SNP	.											FUT4,NS,carcinoma,0,1	FUT4	17	1	0			c.C1414T						PASS	.	C		114,4288	83.4+/-121.9	2,110,2089	51	52	52		1414	2.1	1	11	dbSNP_98	52	472,8124	136.8+/-193.9	6,460,3832	no	coding-synonymous	FUT4	NM_002033.3		8,570,5921	TT,TC,CC		5.4909,2.5897,4.5084		472/531	94278713	586,12412	2201	4298	6499	SO:0001819	synonymous_variant	2526	exon1			TCGTACCTGCTTT		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1414C>T	11.37:g.94278713C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	115	47	0.408696	NM_002033	B2RMS0	Silent	SNP	ENST00000358752.2	37	CCDS8301.1																																																																																			C|0.940;T|0.060	0.060	strong		0.652	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		T	94278713	C	T	94278713	2	4	22	1	0	0	0	0	0	0	0	1	6106	680	24	2		2	FUT4	11	94278713	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	365321	94278713	40727803	6390	11498										
PIWIL4	143689	hgsc.bcm.edu	37	chr11	94320237	94320237	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatccctttggcctgggttTgccatttctgtgtcatattt	8	9	2	0	rs7110167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94320237T>C	ENST00000299001.6	+	7	949	c.738T>C	c.(736-738)ttT>ttC	p.F246F	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	246					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCCTGGGTTTGCCATTTCTG	0.358													T|||	2772	0.553514	0.8124	0.4524	5008	,	,		19065	0.5		0.4016	False		,,,				2504	0.4867				p.F246F		Atlas-SNP	.											PIWIL4,NS,carcinoma,+2,1	PIWIL4	70	1	0			c.T738C						PASS	.	T		3284,1118	717.2+/-408.7	1239,806,156	144	153	150		738	-0.4	0.2	11	dbSNP_116	150	3427,5169	504.7+/-376.2	705,2017,1576	no	coding-synonymous	PIWIL4	NM_152431.2		1944,2823,1732	CC,CT,TT		39.8674,25.3975,48.369		246/853	94320237	6711,6287	2201	4298	6499	SO:0001819	synonymous_variant	143689	exon7			TGGGTTTGCCATT	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.738T>C	11.37:g.94320237T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	58	21	0.362069	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	CCDS31656.1																																																																																			T|0.476;C|0.524	0.524	strong		0.358	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		C	94320237	T	C	94320237	2	2	22	1	0	0	0	0	0	0	0	1	11960	1809	63	2		2	PIWIL4	11	94320237	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41524	94320237	40686279	6391	11499										
PIWIL4	143689	hgsc.bcm.edu	37	chr11	94320300	94320300	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgatgtgagttacaaagtCctccggaatgagacggttct	12	8	1	3	rs145516372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94320300C>T	ENST00000299001.6	+	7	1012	c.801C>T	c.(799-801)gtC>gtT	p.V267V	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	267					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTACAAAGTCCTCCGGAATG	0.433													C|||	51	0.0101837	0.0371	0.0029	5008	,	,		18230	0.0		0.0	False		,,,				2504	0.0				p.V267V		Atlas-SNP	.											.	PIWIL4	70	.	0			c.C801T						PASS	.	C		116,4286	88.7+/-127.4	2,112,2087	188	191	190		801	1.8	0.9	11	dbSNP_134	190	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	PIWIL4	NM_152431.2		2,113,6384	TT,TC,CC		0.0116,2.6352,0.9001		267/853	94320300	117,12881	2201	4298	6499	SO:0001819	synonymous_variant	143689	exon7			CAAAGTCCTCCGG	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.801C>T	11.37:g.94320300C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	124	47	0.379032	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	CCDS31656.1																																																																																			C|0.992;T|0.008	0.008	strong		0.433	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		T	94320300	C	T	94320300	2	4	22	1	0	0	0	0	0	0	0	1	11960	842	30	2		2	PIWIL4	11	94320300	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	63	94320300	40686216	6392	11500										
PIWIL4	143689	hgsc.bcm.edu	37	chr11	94335037	94335037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgcacagtctttgaataCctggttgattttatgtagcg	9	6	1	2	rs35885673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94335037C>A	ENST00000299001.6	+	12	1668	c.1457C>A	c.(1456-1458)aCc>aAc	p.T486N	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	486					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTTGAATACCTGGTTGATT	0.403													C|||	155	0.0309505	0.1036	0.013	5008	,	,		19752	0.0		0.003	False		,,,				2504	0.0061				p.T486N		Atlas-SNP	.											.	PIWIL4	70	.	0			c.C1457A						PASS	.	C	ASN/THR	344,4058	182.2+/-210.1	17,310,1874	161	156	158		1457	0.3	0	11	dbSNP_126	158	30,8566	21.0+/-64.5	0,30,4268	yes	missense	PIWIL4	NM_152431.2	65	17,340,6142	AA,AC,CC		0.349,7.8146,2.8774	benign	486/853	94335037	374,12624	2201	4298	6499	SO:0001583	missense	143689	exon12			TGAATACCTGGTT	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1457C>A	11.37:g.94335037C>A	ENSP00000299001:p.Thr486Asn	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	144	66	0.458333	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	49	0.022435897435897436	43	0.08739837398373984	6	0.016574585635359115	0	0.0	0	0.0	C	0.008	-1.862658	0.00552	0.078146	0.00349	ENSG00000134627	ENST00000299001	T	0.03441	3.93	5.05	0.257	0.15574	Ribonuclease H-like (1);	0.749315	0.12149	N	0.495051	T	0.00039	0.0001	N	0.00661	-1.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49771	-0.8904	10	0.02654	T	1	-5.5732	5.8364	0.18609	0.5293:0.3107:0.16:0.0	rs35885673	486	Q7Z3Z4	PIWL4_HUMAN	N	486	ENSP00000299001:T486N	ENSP00000299001:T486N	T	+	2	0	PIWIL4	93974685	0.997000	0.39634	0.017000	0.16124	0.169000	0.22640	1.860000	0.39428	-0.099000	0.12263	0.655000	0.94253	ACC	C|0.975;A|0.025	0.025	strong		0.403	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		A	94335037	C	A	94335037	3	1	22	1	0	0	0	0	1	0	0	0	11960	507	18	4	1503	4	PIWIL4	11	94335037	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14737	94335037	40671479	6393	11501										
PIWIL4	143689	hgsc.bcm.edu	37	chr11	94337220	94337220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttgatcctgatgttcagCtggtaagtacaggatacttt	10	6	1	2	rs593690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94337220C>T	ENST00000299001.6	+	13	1847	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	546	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATGTTCAGCTGGTAAGTAC	0.318													T|||	2933	0.585663	0.9085	0.4524	5008	,	,		14671	0.502		0.4145	False		,,,				2504	0.5061				p.L546L		Atlas-SNP	.											.	PIWIL4	70	.	0			c.C1636T						PASS	.	T		3586,810	313.0+/-292.9	1473,640,85	89	90	90		1636	-0.6	1	11	dbSNP_83	90	3446,5146	623.1+/-397.4	706,2034,1556	no	coding-synonymous	PIWIL4	NM_152431.2		2179,2674,1641	TT,TC,CC		40.1071,18.4258,45.8577		546/853	94337220	7032,5956	2198	4296	6494	SO:0001819	synonymous_variant	143689	exon13			GTTCAGCTGGTAA	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1636C>T	11.37:g.94337220C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	69	23	0.333333	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	CCDS31656.1																																																																																			C|0.455;T|0.545	0.545	strong		0.318	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		T	94337220	C	T	94337220	2	4	22	1	0	0	0	0	0	0	0	1	11960	796	28	2		2	PIWIL4	11	94337220	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2183	94337220	40669296	6394	11502										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94533373	94533373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttatggtgaccagcacccCgggatgctccacgagatggt	12	11	0	2	rs2303960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94533373C>T	ENST00000433060.2	+	3	1158	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	AMOTL1_ENST00000317829.8_Silent_p.P289P|AMOTL1_ENST00000317837.9_Silent_p.P339P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	339					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACCAGCACCCCGGGATGCTCC	0.587													C|||	1309	0.261382	0.0719	0.464	5008	,	,		16586	0.4444		0.1889	False		,,,				2504	0.2597				p.P339P		Atlas-SNP	.											AMOTL1,colon,carcinoma,+2,1	AMOTL1	95	1	0			c.C1017T						PASS	.	C		368,3618		18,332,1643	123	124	124		1017	-10.3	0.1	11	dbSNP_100	124	1729,6613		177,1375,2619	no	coding-synonymous	AMOTL1	NM_130847.2		195,1707,4262	TT,TC,CC		20.7264,9.2323,17.0101		339/957	94533373	2097,10231	1993	4171	6164	SO:0001819	synonymous_variant	154810	exon3			GCACCCCGGGATG	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1017C>T	11.37:g.94533373C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																			C|0.744;T|0.256	0.256	strong		0.587	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		T	94533373	C	T	94533373	2	4	22	1	0	0	0	0	0	0	0	1	583	639	23	1		1	AMOTL1	11	94533373	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	196153	94533373	40473143	6395	11503										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94602457	94602457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccatagcctccactacGgcagccagcagtgcccacgc	8	19	0	0	rs181764487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94602457G>A	ENST00000433060.2	+	12	2724	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	AMOTL1_ENST00000317829.8_Silent_p.T811T|AMOTL1_ENST00000317837.9_Silent_p.T448T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	861					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTCCACTACGGCAGCCAGCA	0.632													G|||	20	0.00399361	0.0106	0.0072	5008	,	,		14338	0.0		0.0	False		,,,				2504	0.001				p.T861T		Atlas-SNP	.											AMOTL1,NS,carcinoma,+1,2	AMOTL1	95	2	0			c.G2583A						PASS	.	G		24,4298		0,24,2137	25	34	31		2583	-10.3	0	11		31	2,8548		0,2,4273	no	coding-synonymous	AMOTL1	NM_130847.2		0,26,6410	AA,AG,GG		0.0234,0.5553,0.202		861/957	94602457	26,12846	2161	4275	6436	SO:0001819	synonymous_variant	154810	exon12			CACTACGGCAGCC	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2583G>A	11.37:g.94602457G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	139	69	0.496403	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																			G|0.995;A|0.005	0.005	strong		0.632	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94602457	G	A	94602457	2	1	22	1	0	0	0	0	0	0	0	1	583	1103	39	1		1	AMOTL1	11	94602457	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69084	94602457	40404059	6396	11504										
ENDOD1	23052	hgsc.bcm.edu	37	chr11	94862340	94862340	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtggtgtgttaccaagcAggtgattaatggcatagaaa	12	6	0	2	rs188091415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:94862340A>T	ENST00000278505.4	+	2	1218	c.1100A>T	c.(1099-1101)cAg>cTg	p.Q367L		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	367						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GTTACCAAGCAGGTGATTAAT	0.438													A|||	5	0.000998403	0.0038	0.0	5008	,	,		21650	0.0		0.0	False		,,,				2504	0.0				p.Q367L		Atlas-SNP	.											.	ENDOD1	26	.	0			c.A1100T						PASS	.	A	LEU/GLN	12,3830		0,12,1909	114	102	106		1100	4.9	1	11		106	0,8256		0,0,4128	yes	missense	ENDOD1	NM_015036.2	113	0,12,6037	TT,TA,AA		0.0,0.3123,0.0992	possibly-damaging	367/501	94862340	12,12086	1921	4128	6049	SO:0001583	missense	23052	exon2			CCAAGCAGGTGAT	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1100A>T	11.37:g.94862340A>T	ENSP00000278505:p.Gln367Leu	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	145	89	0.613793	NM_015036	A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	CCDS41699.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	13.12	2.141283	0.37825	0.003123	0.0	ENSG00000149218	ENST00000278505	T	0.33865	1.39	6.03	4.88	0.63580	.	0.171913	0.40469	N	0.001086	T	0.26991	0.0661	M	0.67953	2.075	0.32644	N	0.52035	B	0.18461	0.028	B	0.17433	0.018	T	0.44360	-0.9333	10	0.87932	D	0	-24.9899	6.2791	0.20997	0.7766:0.0:0.0796:0.1438	.	367	O94919	ENDD1_HUMAN	L	367	ENSP00000278505:Q367L	ENSP00000278505:Q367L	Q	+	2	0	ENDOD1	94501988	0.987000	0.35691	0.993000	0.49108	0.553000	0.35397	1.425000	0.34859	1.066000	0.40716	0.455000	0.32223	CAG	A|0.998;T|0.002	0.002	strong		0.438	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		T	94862340	A	T	94862340	3	4	22	1	0	0	0	0	1	0	0	0	5114	188	7	5	1106	5	ENDOD1	11	94862340	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	259883	94862340	40144176	6397	11505										
CNTN5	53942	hgsc.bcm.edu	37	chr11	100226883	100226883	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcacagtcgacccttcacTctctctccacatcttcgtca	5	17	5	0	rs1216183	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:100226883T>A	ENST00000524871.1	+	25	3525	c.3235T>A	c.(3235-3237)Tct>Act	p.S1079T	CNTN5_ENST00000279463.3_Missense_Mutation_p.S1079T|CNTN5_ENST00000528682.1_Missense_Mutation_p.S1079T|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.S1005T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1079			S -> T (in dbSNP:rs1216183). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACCCTTCACTCTCTCTCCAC	0.413													A|||	1638	0.327077	0.531	0.2896	5008	,	,		19676	0.3313		0.1193	False		,,,				2504	0.2873				p.S1079T		Atlas-SNP	.											CNTN5_ENST00000524871,colon,carcinoma,-2,2	CNTN5	324	2	0			c.T3235A						PASS	.	A	THR/SER,THR/SER	1708,2280		366,976,652	137	133	134		3235,3013	1.5	0.1	11	dbSNP_87	134	886,7448		52,782,3333	yes	missense,missense	CNTN5	NM_014361.3,NM_175566.2	58,58	418,1758,3985	AA,AT,TT		10.6311,42.8285,21.0518	benign,benign	1079/1101,1005/1027	100226883	2594,9728	1994	4167	6161	SO:0001583	missense	53942	exon24			CTTCACTCTCTCT	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3235T>A	11.37:g.100226883T>A	ENSP00000435637:p.Ser1079Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	95	54	0.568421	NM_001243270	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	636	0.29120879120879123	254	0.516260162601626	95	0.26243093922651933	193	0.3374125874125874	94	0.12401055408970976	A	0.081	-1.183514	0.01620	0.428285	0.106311	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.54479	0.58;0.58;0.57;0.58	5.4	1.5	0.22942	.	0.581661	0.18924	N	0.127412	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46748	-0.9169	8	.	.	.	.	0.953	0.01379	0.3979:0.1191:0.1366:0.3463	rs1216183;rs17094898;rs52792685;rs1216183	1005;1079	O94779-2;O94779	.;CNTN5_HUMAN	T	1079;1079;1005;1079	ENSP00000436185:S1079T;ENSP00000435637:S1079T;ENSP00000393229:S1005T;ENSP00000279463:S1079T	.	S	+	1	0	CNTN5	99732093	0.000000	0.05858	0.057000	0.19452	0.209000	0.24338	-0.013000	0.12678	-0.254000	0.09500	-0.364000	0.07487	TCT	T|0.706;A|0.294	0.294	strong		0.413	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100226883	T	A	100226883	3	1	22	1	0	0	0	0	1	0	0	0	3644	1551	54	5	3325	5	CNTN5	11	100226883	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5364543	100226883	34779633	6398	11506										
CNTN5	53942	hgsc.bcm.edu	37	chr11	100226900	100226900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactctctctccacatcttcGtcatcagtcaccttgctctt	3	17	7	0	rs34539243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:100226900G>A	ENST00000524871.1	+	25	3542	c.3252G>A	c.(3250-3252)tcG>tcA	p.S1084S	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.S1010S|CNTN5_ENST00000279463.3_Silent_p.S1084S|CNTN5_ENST00000528682.1_Silent_p.S1084S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1084					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCACATCTTCGTCATCAGTCA	0.418													G|||	88	0.0175719	0.0651	0.0	5008	,	,		20062	0.0		0.002	False		,,,				2504	0.0				p.S1084S		Atlas-SNP	.											.	CNTN5	324	.	0			c.G3252A						PASS	.	G	,	209,3773		7,195,1789	143	139	140		3252,3030	-4.7	0	11	dbSNP_126	140	5,8327		0,5,4161	no	coding-synonymous,coding-synonymous	CNTN5	NM_014361.3,NM_175566.2	,	7,200,5950	AA,AG,GG		0.06,5.2486,1.7379	,	1084/1101,1010/1027	100226900	214,12100	1991	4166	6157	SO:0001819	synonymous_variant	53942	exon24			ATCTTCGTCATCA	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3252G>A	11.37:g.100226900G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	94	56	0.595745	NM_001243270	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																			G|0.988;A|0.012	0.012	strong		0.418	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100226900	G	A	100226900	2	1	22	1	0	0	0	0	0	0	0	1	3644	1132	40	1		1	CNTN5	11	100226900	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17	100226900	34779616	6399	11507										
PGR	5241	hgsc.bcm.edu	37	chr11	100909991	100909991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaagcagtacagatgaagTtgtttgacaagctgttggtt	11	5	1	3	rs500760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:100909991T>C	ENST00000325455.5	-	8	4111	c.2658A>G	c.(2656-2658)caA>caG	p.Q886Q	PGR_ENST00000534013.1_Silent_p.Q292Q|PGR_ENST00000263463.5_Silent_p.Q784Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	886	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	ACAGATGAAGTTGTTTGACAA	0.323													T|||	1310	0.261581	0.413	0.2651	5008	,	,		14650	0.2133		0.2525	False		,,,				2504	0.1135				p.Q886Q	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.A2658G						PASS	.	T	,	1679,2727	506.9+/-366.5	327,1025,851	85	82	83		2658,2166	-3	1	11	dbSNP_83	83	2102,6496	361.3+/-332.3	264,1574,2461	no	coding-synonymous,coding-synonymous	PGR	NM_000926.4,NM_001202474.1	,	591,2599,3312	CC,CT,TT		24.4475,38.1071,29.0757	,	886/934,722/770	100909991	3781,9223	2203	4299	6502	SO:0001819	synonymous_variant	5241	exon8			ATGAAGTTGTTTG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2658A>G	11.37:g.100909991T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	92	92	1	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	CCDS8310.1																																																																																			T|0.704;C|0.296	0.296	strong		0.323	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			C	100909991	T	C	100909991	2	2	22	1	0	0	0	0	0	0	0	1	11805	1722	60	2		2	PGR	11	100909991	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	683091	100909991	34096525	6400	11508										
TRPC6	7225	hgsc.bcm.edu	37	chr11	101347093	101347093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaagtccttcaaagtatcAtttgcgtcaatgatgctctg	8	9	5	1	rs12366144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:101347093A>G	ENST00000344327.3	-	6	2107	c.1683T>C	c.(1681-1683)aaT>aaC	p.N561N	TRPC6_ENST00000360497.4_Silent_p.N506N|TRPC6_ENST00000348423.4_Silent_p.N445N|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	561					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCAAAGTATCATTTGCGTCAA	0.373													A|||	1497	0.298922	0.5832	0.2046	5008	,	,		21717	0.0724		0.2495	False		,,,				2504	0.2658				p.N561N	Colon(166;1315 1927 11094 12848 34731)	Atlas-SNP	.											.	TRPC6	132	.	0			c.T1683C						PASS	.	A		2299,2107	601.6+/-389.7	605,1089,509	106	91	96		1683	3.4	1	11	dbSNP_120	96	2044,6554	354.2+/-329.4	243,1558,2498	no	coding-synonymous	TRPC6	NM_004621.5		848,2647,3007	GG,GA,AA		23.773,47.8212,33.3974		561/932	101347093	4343,8661	2203	4299	6502	SO:0001819	synonymous_variant	7225	exon6			AGTATCATTTGCG	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1683T>C	11.37:g.101347093A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	CCDS8311.1																																																																																			A|0.699;G|0.301	0.301	strong		0.373	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		G	101347093	A	G	101347093	2	3	22	1	0	0	0	0	0	0	0	1	16580	214	8	2		2	TRPC6	11	101347093	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	437102	101347093	33659423	6401	11509										
KIAA1377	57562	hgsc.bcm.edu	37	chr11	101829070	101829070	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaaactcagaaactcctCgaagatcaacatctaagcaa	7	10	3	2	rs61742070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:101829070C>T	ENST00000263468.8	+	5	948	c.678C>T	c.(676-678)ctC>ctT	p.L226L	KIAA1377_ENST00000537689.1_Silent_p.L27L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	226										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAAACTCCTCGAAGATCAAC	0.343													C|||	49	0.00978435	0.0371	0.0	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.0				p.L226L		Atlas-SNP	.											.	KIAA1377	111	.	0			c.C678T						PASS	.	C		129,4277	90.2+/-128.9	0,129,2074	105	113	110		678	0.7	1	11	dbSNP_129	110	0,8598		0,0,4299	no	coding-synonymous	KIAA1377	NM_020802.2		0,129,6373	TT,TC,CC		0.0,2.9278,0.992		226/1118	101829070	129,12875	2203	4299	6502	SO:0001819	synonymous_variant	57562	exon5			ACTCCTCGAAGAT	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.678C>T	11.37:g.101829070C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_020802	Q4G0U6	Silent	SNP	ENST00000263468.8	37	CCDS31658.1																																																																																			C|0.989;T|0.011	0.011	strong		0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		T	101829070	C	T	101829070	2	4	22	1	0	0	0	0	0	0	0	1	8227	871	31	1		1	KIAA1377	11	101829070	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481977	101829070	33177446	6402	11510										
MMP20	9313	hgsc.bcm.edu	37	chr11	102477377	102477377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggggggcatggggcagaGtgggcttccccaggaatact	18	8	0	1	rs1784424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:102477377G>T	ENST00000260228.2	-	6	854	c.842C>A	c.(841-843)aCt>aAt	p.T281N	RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	300					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	ATGGGGCAGAGTGGGCTTCCC	0.532													G|||	2103	0.419928	0.2625	0.4424	5008	,	,		20032	0.4325		0.4364	False		,,,				2504	0.5869				p.T281N		Atlas-SNP	.											.	MMP20	52	.	0			c.C842A						PASS	.	G	ASN/THR	1360,3046	451.8+/-349.8	204,952,1047	113	109	110		842	2.3	0.2	11	dbSNP_89	110	3926,4672	547.7+/-385.2	867,2192,1240	yes	missense	MMP20	NM_004771.3	65	1071,3144,2287	TT,TG,GG		45.6618,30.867,40.649	benign	281/484	102477377	5286,7718	2203	4299	6502	SO:0001583	missense	9313	exon6			GGCAGAGTGGGCT	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.842C>A	11.37:g.102477377G>T	ENSP00000260228:p.Thr281Asn	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	166	90	0.542169	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	876	0.4010989010989011	129	0.2621951219512195	170	0.4696132596685083	248	0.43356643356643354	329	0.4340369393139842	G	0.027	-1.362562	0.01235	0.30867	0.456618	ENSG00000137674	ENST00000260228	T	0.14516	2.5	5.45	2.3	0.28687	.	0.506134	0.22203	N	0.063204	T	0.00012	0.0000	L	0.34521	1.04	0.53688	P	2.599999999997049E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.46317	-0.9200	9	0.16420	T	0.52	.	8.1778	0.31292	0.1424:0.0:0.6217:0.2359	rs1784424;rs52816330;rs1784424	281	O60882	MMP20_HUMAN	N	281	ENSP00000260228:T281N	ENSP00000260228:T281N	T	-	2	0	MMP20	101982587	0.576000	0.26700	0.164000	0.22755	0.001000	0.01503	0.646000	0.24797	0.417000	0.25871	-0.813000	0.03139	ACT	G|0.598;T|0.402	0.402	strong		0.532	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			T	102477377	G	T	102477377	3	4	22	1	0	0	0	0	1	0	0	0	9659	1029	36	4	629	4	MMP20	11	102477377	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	648307	102477377	32529139	6403	11511										
MMP20	9313	hgsc.bcm.edu	37	chr11	102477395	102477395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtgggcttccccaggaatActttccgaggtcctaggatt	12	10	0	0	rs1784423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:102477395A>G	ENST00000260228.2	-	6	836	c.824T>C	c.(823-825)gTa>gCa	p.V275A	RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	294					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CCCCAGGAATACTTTCCGAGG	0.527													G|||	2103	0.419928	0.2625	0.4424	5008	,	,		19891	0.4325		0.4364	False		,,,				2504	0.5869				p.V275A		Atlas-SNP	.											.	MMP20	52	.	0			c.T824C						PASS	.	G	ALA/VAL	1359,3047	692.2+/-405.5	203,953,1047	97	97	97		824	4.5	0	11	dbSNP_89	97	3927,4671	604.8+/-394.9	867,2193,1239	yes	missense	MMP20	NM_004771.3	64	1070,3146,2286	GG,GA,AA		45.6734,30.8443,40.649	benign	275/484	102477395	5286,7718	2203	4299	6502	SO:0001583	missense	9313	exon6			AGGAATACTTTCC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.824T>C	11.37:g.102477395A>G	ENSP00000260228:p.Val275Ala	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	152	81	0.532895	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	876	0.4010989010989011	129	0.2621951219512195	170	0.4696132596685083	248	0.43356643356643354	329	0.4340369393139842	G	0.012	-1.683853	0.00745	0.308443	0.456734	ENSG00000137674	ENST00000260228	T	0.12361	2.69	5.45	4.53	0.55603	.	1.200790	0.05857	N	0.622272	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44892	-0.9298	9	0.07175	T	0.84	.	7.9149	0.29812	0.2475:0.0:0.7525:0.0	rs1784423;rs1784423	275	O60882	MMP20_HUMAN	A	275	ENSP00000260228:V275A	ENSP00000260228:V275A	V	-	2	0	MMP20	101982605	0.005000	0.15991	0.017000	0.16124	0.020000	0.10135	0.727000	0.25999	0.855000	0.35359	-0.128000	0.14901	GTA	G|0.400;N|0.000	0.400	strong		0.527	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			G	102477395	A	G	102477395	3	3	22	1	0	0	0	0	1	0	0	0	9659	391	14	2	647	2	MMP20	11	102477395	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18	102477395	32529121	6404	11512										
MMP20	9313	hgsc.bcm.edu	37	chr11	102487643	102487643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcttcttgatcacgttcaTtgtggtctggtctaacttcc	9	10	5	1	rs61730848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:102487643T>C	ENST00000260228.2	-	2	286	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	82					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	ATCACGTTCATTGTGGTCTGG	0.458													T|||	12	0.00239617	0.0083	0.0014	5008	,	,		20171	0.0		0.0	False		,,,				2504	0.0				p.M92V		Atlas-SNP	.											.	MMP20	52	.	0			c.A274G						PASS	.	T	VAL/MET	31,4375	36.8+/-68.6	0,31,2172	174	149	158		274	4	0.4	11	dbSNP_129	158	0,8598		0,0,4299	yes	missense	MMP20	NM_004771.3	21	0,31,6471	CC,CT,TT		0.0,0.7036,0.2384	benign	92/484	102487643	31,12973	2203	4299	6502	SO:0001583	missense	9313	exon2			CGTTCATTGTGGT	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.274A>G	11.37:g.102487643T>C	ENSP00000260228:p.Met92Val	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	223	91	0.408072	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	T	8.312	0.822400	0.16678	0.007036	0.0	ENSG00000137674	ENST00000260228	T	0.34072	1.38	5.09	3.95	0.45737	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.248296	0.48286	D	0.000186	T	0.22126	0.0533	L	0.48174	1.505	0.31775	N	0.631573	B	0.10296	0.003	B	0.12837	0.008	T	0.24368	-1.0162	10	0.54805	T	0.06	.	7.274	0.26273	0.1337:0.0:0.2769:0.5894	.	92	O60882	MMP20_HUMAN	V	92	ENSP00000260228:M92V	ENSP00000260228:M92V	M	-	1	0	MMP20	101992853	0.016000	0.18221	0.382000	0.26119	0.387000	0.30353	0.103000	0.15292	1.044000	0.40200	0.533000	0.62120	ATG	T|0.998;C|0.002	0.002	strong		0.458	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			C	102487643	T	C	102487643	3	2	22	1	0	0	0	0	1	0	0	0	9659	1493	52	2	1213	2	MMP20	11	102487643	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10248	102487643	32518873	6405	11513										
MMP27	64066	hgsc.bcm.edu	37	chr11	102576382	102576382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcattttccgtcatccGgactaagggaaatgcagaag	9	9	3	1	rs12099177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:102576382G>A	ENST00000260229.4	-	1	155	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	22			R -> W (in dbSNP:rs12099177).		collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R22W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCCGTCATCCGGACTAAGGGA	0.363													G|||	844	0.16853	0.1687	0.1455	5008	,	,		19020	0.2996		0.0666	False		,,,				2504	0.1544				p.R22W		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	1	Substitution - Missense(1)	stomach(1)	c.C64T						PASS	.	G	TRP/ARG	741,3665	301.0+/-286.6	67,607,1529	99	106	104		64	0.5	0	11	dbSNP_120	104	550,8048	150.4+/-205.3	15,520,3764	yes	missense	MMP27	NM_022122.2	101	82,1127,5293	AA,AG,GG		6.3968,16.818,9.9277	possibly-damaging	22/514	102576382	1291,11713	2203	4299	6502	SO:0001583	missense	64066	exon1			TCATCCGGACTAA	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.64C>T	11.37:g.102576382G>A	ENSP00000260229:p.Arg22Trp	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	123	46	0.373984	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	340	0.15567765567765568	93	0.18902439024390244	43	0.11878453038674033	161	0.28146853146853146	43	0.05672823218997362	G	10.72	1.429129	0.25726	0.16818	0.063968	ENSG00000137675	ENST00000260229	T	0.36520	1.25	4.98	0.533	0.17121	.	1.468070	0.05201	U	0.505000	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.21606	0.058	B	0.20384	0.029	T	0.33548	-0.9864	9	0.66056	D	0.02	.	3.9186	0.09234	0.0821:0.1352:0.4882:0.2945	rs12099177;rs60819172;rs12099177	22	Q9H306	MMP27_HUMAN	W	22	ENSP00000260229:R22W	ENSP00000260229:R22W	R	-	1	2	MMP27	102081592	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.091000	0.30915	0.330000	0.23485	0.655000	0.94253	CGG	G|0.882;A|0.118	0.118	strong		0.363	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102576382	G	A	102576382	3	1	22	1	0	0	0	0	1	0	0	0	9664	1115	39	1	1517	1	MMP27	11	102576382	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88739	102576382	32430134	6406	11514										
MMP13	4322	hgsc.bcm.edu	37	chr11	102818662	102818662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggagagtcttgcctgtaTcctcaaagtgaacagctgca	10	10	2	2	rs17860568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:102818662T>C	ENST00000260302.3	-	8	1197	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	MMP13_ENST00000340273.4_Missense_Mutation_p.D390G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	390	Interaction with collagen.		D -> G (in dbSNP:rs17860568). {ECO:0000269|Ref.4}.		bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTTGCCTGTATCCTCAAAGTG	0.438													T|||	41	0.0081869	0.0287	0.0014	5008	,	,		16765	0.0		0.002	False		,,,				2504	0.0				p.D390G		Atlas-SNP	.											.	MMP13	75	.	0			c.A1169G						PASS	.	T	GLY/ASP	75,4329	67.0+/-104.6	2,71,2129	135	113	120		1169	2	0.2	11	dbSNP_123	120	1,8597		0,1,4298	yes	missense	MMP13	NM_002427.3	94	2,72,6427	CC,CT,TT		0.0116,1.703,0.5845	benign	390/472	102818662	76,12926	2202	4299	6501	SO:0001583	missense	4322	exon8			CCTGTATCCTCAA	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1169A>G	11.37:g.102818662T>C	ENSP00000260302:p.Asp390Gly	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	89	32	0.359551	NM_002427	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	T	12.68	2.009730	0.35415	0.01703	1.16E-4	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.02863	4.13;4.13	5.82	1.98	0.26296	Hemopexin/matrixin (2);	0.232869	0.49916	D	0.000139	T	0.01061	0.0035	L	0.39566	1.225	0.35073	D	0.762662	B	0.18741	0.03	B	0.30716	0.119	T	0.37407	-0.9707	10	0.44086	T	0.13	.	7.3488	0.26678	0.0:0.1373:0.2092:0.6535	rs17860568	390	P45452	MMP13_HUMAN	G	390	ENSP00000260302:D390G;ENSP00000339672:D390G	ENSP00000260302:D390G	D	-	2	0	MMP13	102323872	0.008000	0.16893	0.234000	0.24042	0.991000	0.79684	1.812000	0.38952	0.479000	0.27511	0.533000	0.62120	GAT	T|0.991;C|0.009	0.009	strong		0.438	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		C	102818662	T	C	102818662	3	2	22	1	0	0	0	0	1	0	0	0	9652	1435	50	2	258	2	MMP13	11	102818662	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	242280	102818662	32187854	6407	11515										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103124135	103124135	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcagcttccattgttacTgaggttaactttactacaac	7	9	0	1	rs11225634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:103124135T>G	ENST00000375735.2	+	66	10308	c.10164T>G	c.(10162-10164)acT>acG	p.T3388T	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.T3395T	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3388	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATTGTTACTGAGGTTAACT	0.348													T|||	907	0.18111	0.3752	0.1254	5008	,	,		15809	0.0933		0.1252	False		,,,				2504	0.1063				p.T3395T		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.T10185G						PASS	.	T	,	1168,2482		189,790,846	109	105	106		10185,10164	0.5	1	11	dbSNP_120	106	955,7229		63,829,3200	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	252,1619,4046	GG,GT,TT		11.6691,32.0,17.9398	,	3395/4315,3388/4308	103124135	2123,9711	1825	4092	5917	SO:0001819	synonymous_variant	79659	exon67			TGTTACTGAGGTT	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10164T>G	11.37:g.103124135T>G		Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	194	118	0.608247	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			T|0.824;G|0.176	0.176	strong		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103124135	T	G	103124135	2	3	22	1	0	0	0	0	0	0	0	1	4846	1567	55	5		5	DYNC2H1	11	103124135	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	305473	103124135	31882381	6408	11516										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103152919	103152919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcaataggaatgggatacGtttacaggtgtggttgttgg	14	3	1	0	rs12574626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:103152919G>A	ENST00000375735.2	+	72	10917	c.10773G>A	c.(10771-10773)acG>acA	p.T3591T	DYNC2H1_ENST00000398093.3_Silent_p.T3598T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3591					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATGGGATACGTTTACAGGTG	0.284													G|||	970	0.19369	0.4198	0.1282	5008	,	,		15088	0.0913		0.1272	False		,,,				2504	0.1084				p.T3598T		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.G10794A						PASS	.	G	,	1299,2303		234,831,736	87	88	88		10794,10773	-11.7	0.6	11	dbSNP_120	88	952,7168		62,828,3170	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	296,1659,3906	AA,AG,GG		11.7241,36.0633,19.2032	,	3598/4315,3591/4308	103152919	2251,9471	1801	4060	5861	SO:0001819	synonymous_variant	79659	exon73			GGATACGTTTACA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10773G>A	11.37:g.103152919G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	28	20	0.714286	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			G|0.808;A|0.192	0.192	strong		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103152919	G	A	103152919	2	1	22	1	0	0	0	0	0	0	0	1	4846	1132	40	1		1	DYNC2H1	11	103152919	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28784	103152919	31853597	6409	11517										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103158278	103158278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagattcttgtagtacaggCgctaagaccggacagattgc	11	8	1	3	rs10895391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:103158278C>T	ENST00000375735.2	+	75	11183	c.11039C>T	c.(11038-11040)gCg>gTg	p.A3680V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3687V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3680			A -> V (in dbSNP:rs10895391). {ECO:0000269|PubMed:12056414}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTAGTACAGGCGCTAAGACCG	0.328													C|||	1434	0.286342	0.1725	0.2464	5008	,	,		17114	0.3016		0.338	False		,,,				2504	0.3998				p.A3687V		Atlas-SNP	.											DYNC2H1_ENST00000398093,colon,carcinoma,-1,1	DYNC2H1	246	1	0			c.C11060T						PASS	.	C	VAL/ALA,VAL/ALA	742,2904		81,580,1162	89	83	85		11060,11039	5.8	1	11	dbSNP_120	85	2869,5279		511,1847,1716	yes	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	64,64	592,2427,2878	TT,TC,CC		35.2111,20.3511,30.6173	benign,benign	3687/4315,3680/4308	103158278	3611,8183	1823	4074	5897	SO:0001583	missense	79659	exon76			TACAGGCGCTAAG	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11039C>T	11.37:g.103158278C>T	ENSP00000364887:p.Ala3680Val	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	155	59	0.380645	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	608	0.2783882783882784	90	0.18292682926829268	102	0.281767955801105	157	0.2744755244755245	259	0.341688654353562	C	21.8	4.207195	0.79127	0.203511	0.352111	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.09911	2.93;2.93	5.79	5.79	0.91817	Dynein heavy chain (1);	0.054526	0.64402	D	0.000001	T	0.00012	0.0000	M	0.63428	1.95	0.09310	P	0.9999999859533	P;P	0.46656	0.596;0.882	B;B	0.38655	0.201;0.278	T	0.53143	-0.8480	9	0.45353	T	0.12	.	19.6264	0.95679	0.0:1.0:0.0:0.0	rs10895391;rs52827900;rs58780461;rs10895391	3680;3687	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	3680;3687	ENSP00000364887:A3680V;ENSP00000381167:A3687V	ENSP00000364887:A3680V	A	+	2	0	DYNC2H1	102663488	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.123000	0.71614	2.746000	0.94184	0.655000	0.94253	GCG	C|0.709;T|0.291	0.291	strong		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103158278	C	T	103158278	3	4	22	1	0	0	0	0	1	0	0	0	4846	768	27	1	11362	1	DYNC2H1	11	103158278	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5359	103158278	31848238	6410	11518										
DDI1	414301	hgsc.bcm.edu	37	chr11	103908517	103908517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctttctccatacttgagGatcaacccatggatatgctt	7	11	3	1	rs116423827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:103908517G>A	ENST00000302259.3	+	1	1210	c.967G>A	c.(967-969)Gat>Aat	p.D323N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	323							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CATACTTGAGGATCAACCCAT	0.448													G|||	30	0.00599042	0.0219	0.0014	5008	,	,		19982	0.0		0.0	False		,,,				2504	0.0				p.D323N		Atlas-SNP	.											.	DDI1	222	.	0			c.G967A						PASS	.	G	ASN/ASP,,	55,4349	54.9+/-90.9	1,53,2148	139	129	133		967,,	5.2	1	11	dbSNP_132	133	1,8597	1.2+/-3.3	0,1,4298	yes	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	23,,	1,54,6446	AA,AG,GG		0.0116,1.2489,0.4307	possibly-damaging,,	323/397,,	103908517	56,12946	2202	4299	6501	SO:0001583	missense	414301	exon1			CTTGAGGATCAAC		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.967G>A	11.37:g.103908517G>A	ENSP00000302805:p.Asp323Asn	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	117	41	0.350427	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	11.40	1.628901	0.28978	0.012489	1.16E-4	ENSG00000170967	ENST00000302259	T	0.43688	0.94	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.165679	0.52532	D	0.000074	T	0.19765	0.0475	N	0.11364	0.135	0.47862	D	0.999536	B	0.26547	0.152	B	0.32090	0.14	T	0.06197	-1.0840	10	0.10636	T	0.68	-21.2941	16.6709	0.85266	0.0:0.0:1.0:0.0	.	323	Q8WTU0	DDI1_HUMAN	N	323	ENSP00000302805:D323N	ENSP00000302805:D323N	D	+	1	0	DDI1	103413727	1.000000	0.71417	0.954000	0.39281	0.097000	0.18754	9.016000	0.93645	2.884000	0.98904	0.655000	0.94253	GAT	G|0.995;A|0.005	0.005	strong		0.448	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		A	103908517	G	A	103908517	3	1	22	1	0	0	0	0	1	0	0	0	4328	1174	41	2	969	2	DDI1	11	103908517	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	750239	103908517	31097999	6411	11519										
CASP4	837	hgsc.bcm.edu	37	chr11	104819333	104819333	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcatcttcctctaggttCtcagatgactgtgaagaggc	10	10	3	4	rs55901059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:104819333C>A	ENST00000444739.2	-	6	1762	c.852G>T	c.(850-852)gaG>gaT	p.E284D	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Missense_Mutation_p.E228D	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	284			E -> D (in dbSNP:rs55901059).		apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCTCTAGGTTCTCAGATGACT	0.493													c|||	93	0.0185703	0.0688	0.0029	5008	,	,		19215	0.0		0.0	False		,,,				2504	0.0				p.E284D		Atlas-SNP	.											.	CASP4	57	.	0			c.G852T						PASS	.	C	ASP/GLU,ASP/GLU	287,4117	157.8+/-190.6	12,263,1927	157	117	131		852,684	-2.6	0	11	dbSNP_129	131	1,8597		0,1,4298	yes	missense,missense	CASP4	NM_001225.3,NM_033306.2	45,45	12,264,6225	AA,AC,CC		0.0116,6.5168,2.215	benign,benign	284/378,228/322	104819333	288,12714	2202	4299	6501	SO:0001583	missense	837	exon6			TAGGTTCTCAGAT	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.852G>T	11.37:g.104819333C>A	ENSP00000388566:p.Glu284Asp	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	141	86	0.609929	NM_001225	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	43	0.019688644688644688	42	0.08536585365853659	1	0.0027624309392265192	0	0.0	0	0.0	C	9.595	1.127085	0.20959	0.065168	1.16E-4	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	5.08	-2.61	0.06171	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.203310	0.05999	N	0.647483	T	0.00580	0.0019	L	0.37800	1.135	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32587	-0.9901	10	0.19590	T	0.45	.	12.8207	0.57692	0.0:0.3484:0.58:0.0716	rs55901059;rs61735787	284	P49662	CASP4_HUMAN	D	284;228;237	ENSP00000388566:E284D;ENSP00000376857:E228D	ENSP00000347741:E237D	E	-	3	2	CASP4	104324543	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.270000	0.02831	-0.407000	0.07576	-0.494000	0.04653	GAG	C|0.979;A|0.021	0.021	strong		0.493	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		A	104819333	C	A	104819333	3	1	22	1	0	0	0	0	1	0	0	0	2673	912	32	4	293	4	CASP4	11	104819333	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	910816	104819333	30187183	6412	11520										
CASP4	837	hgsc.bcm.edu	37	chr11	104825597	104825597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtcttcagttttagcatCgtaatatttctttttttcct	4	7	3	0	rs56226603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:104825597C>T	ENST00000444739.2	-	2	1049	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	47	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.		D -> N (in dbSNP:rs56226603).		apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTTTTAGCATCGTAATATTTC	0.398													C|||	136	0.0271565	0.0946	0.0159	5008	,	,		19636	0.0		0.0	False		,,,				2504	0.0				p.D47N		Atlas-SNP	.											.	CASP4	57	.	0			c.G139A						PASS	.	C	ASN/ASP,	361,4043	185.0+/-212.2	22,317,1863	226	209	215		139,	0	0	11	dbSNP_129	215	1,8597	1.2+/-3.3	0,1,4298	yes	missense,utr-5	CASP4	NM_001225.3,NM_033306.2	23,	22,318,6161	TT,TC,CC		0.0116,8.1971,2.7842	benign,	47/378,	104825597	362,12640	2202	4299	6501	SO:0001583	missense	837	exon2			TAGCATCGTAATA	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.139G>A	11.37:g.104825597C>T	ENSP00000388566:p.Asp47Asn	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	180	60	0.333333	NM_001225	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	65	0.02976190476190476	57	0.11585365853658537	8	0.022099447513812154	0	0.0	0	0.0	C	0.022	-1.408830	0.01155	0.081971	1.16E-4	ENSG00000196954	ENST00000444739;ENST00000417440	T;T	0.19394	2.15;2.15	3.04	0.0232	0.14136	DEATH-like (2);Caspase Recruitment (3);	0.704837	0.13761	N	0.364575	T	0.00073	0.0002	N	0.02357	-0.585	0.09310	N	0.999999	B;B;B	0.33288	0.406;0.007;0.002	B;B;B	0.26969	0.075;0.006;0.006	T	0.27123	-1.0083	10	0.02654	T	1	.	6.0472	0.19766	0.0:0.469:0.0:0.531	rs56226603;rs61751520	47;47;47	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	N	47	ENSP00000388566:D47N;ENSP00000401673:D47N	ENSP00000401673:D47N	D	-	1	0	CASP4	104330807	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.945000	0.03909	0.002000	0.14630	-0.140000	0.14226	GAT	C|0.969;T|0.031	0.031	strong		0.398	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		T	104825597	C	T	104825597	3	4	22	1	0	0	0	0	1	0	0	0	2673	884	31	1	1022	1	CASP4	11	104825597	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6264	104825597	30180919	6413	11521										
CASP5	838	hgsc.bcm.edu	37	chr11	104871193	104871193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttgtgctctggtctggcAgcaaatgccctcagcactga	11	12	3	1	rs45501691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:104871193A>G	ENST00000260315.3	-	6	746	c.747T>C	c.(745-747)gcT>gcC	p.A249A	CASP5_ENST00000444749.2_Silent_p.A191A|CASP5_ENST00000531367.1_Silent_p.A107A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Silent_p.A107A|CASP5_ENST00000526056.1_Silent_p.A262A|CASP5_ENST00000393141.2_Silent_p.A262A			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	249					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTGGTCTGGCAGCAAATGCCC	0.448													A|||	212	0.0423323	0.1543	0.0115	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.0				p.A262A		Atlas-SNP	.											.	CASP5	213	.	0			c.T786C						PASS	.	A	,,,	601,3803		51,499,1652	98	89	92		573,321,786,747	1.9	0.2	11	dbSNP_127	92	5,8593		0,5,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CASP5	NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3	,,,	51,504,5946	GG,GA,AA		0.0582,13.6467,4.6608	,,,	191/377,107/293,262/448,249/435	104871193	606,12396	2202	4299	6501	SO:0001819	synonymous_variant	838	exon6			TCTGGCAGCAAAT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.747T>C	11.37:g.104871193A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	118	68	0.576271	NM_001136112	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	CCDS8328.2																																																																																			A|0.954;G|0.046	0.046	strong		0.448	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		G	104871193	A	G	104871193	2	3	22	1	0	0	0	0	0	0	0	1	2674	175	7	3		3	CASP5	11	104871193	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45596	104871193	30135323	6414	11522										
CARD17	440068	hgsc.bcm.edu	37	chr11	104971257	104971257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctgctgagagtcccagcGtccctgccaggtgactgtct	11	14	1	2	rs12806837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:104971257G>A	ENST00000375707.1	-	2	273	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GAGTCCCAGCGTCCCTGCCAG	0.488													.|||	512	0.102236	0.143	0.2233	5008	,	,		20238	0.006		0.0815	False		,,,				2504	0.0818				p.T86M		Atlas-SNP	.											.	CARD17	15	.	0			c.C257T						PASS	.	G	MET/THR	601,3803		31,539,1632	122	106	111		257	-2.5	0	11	dbSNP_121	111	694,7904		29,636,3634	no	missense	CARD17	NM_001007232.1	81	60,1175,5266	AA,AG,GG		8.0716,13.6467,9.96		86/111	104971257	1295,11707	2202	4299	6501	SO:0001583	missense	440068	exon2			CCCAGCGTCCCTG		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.257C>T	11.37:g.104971257G>A	ENSP00000364859:p.Thr86Met	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	210	66	0.314286	NM_001007232		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	216	0.0989010989010989	81	0.16463414634146342	75	0.20718232044198895	2	0.0034965034965034965	58	0.07651715039577836	.	6.103	0.387223	0.11581	0.136467	0.080716	ENSG00000255221	ENST00000375707	T	0.20881	2.04	2.69	-2.47	0.06442	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	P	0.38617	0.64	B	0.29598	0.104	T	0.12167	-1.0558	8	0.40728	T	0.16	.	2.9218	0.05771	0.4783:0.0:0.2414:0.2803	rs12806837	86	Q5XLA6	CAR17_HUMAN	M	86	ENSP00000364859:T86M	ENSP00000364859:T86M	T	-	2	0	CARD17	104476467	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-0.752000	0.04728	0.511000	0.50034	ACG	G|0.903;A|0.097	0.097	strong		0.488	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104971257	G	A	104971257	3	1	22	1	0	0	0	0	1	0	0	0	2648	1145	40	1	83	1	CARD17	11	104971257	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100064	104971257	30035259	6415	11523										
ALKBH8	91801	hgsc.bcm.edu	37	chr11	107427616	107427616	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatcttgcaaatgagtaCggcttgttaggtggcattaa	11	6	1	1	rs17107135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:107427616C>G	ENST00000428149.2	-	3	394	c.243G>C	c.(241-243)ccG>ccC	p.P81P	ALKBH8_ENST00000429370.1_Silent_p.P81P|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Silent_p.P81P|ALKBH8_ENST00000417449.2_Silent_p.P84P	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	81	RRM.				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)		CAAATGAGTACGGCTTGTTAG	0.443													G|||	545	0.108826	0.3918	0.036	5008	,	,		14479	0.001		0.001	False		,,,				2504	0.0				p.P81P		Atlas-SNP	.											.	ALKBH8	88	.	0			c.G243C						PASS	.	G		1354,3048	692.3+/-405.5	220,914,1067	130	121	124		243	2.7	1	11	dbSNP_123	124	24,8572	818.1+/-406.9	0,24,4274	no	coding-synonymous	ALKBH8	NM_138775.2		220,938,5341	GG,GC,CC		0.2792,30.7587,10.6016		81/665	107427616	1378,11620	2201	4298	6499	SO:0001819	synonymous_variant	91801	exon3			TGAGTACGGCTTG	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.243G>C	11.37:g.107427616C>G		Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	152	152	1	NM_138775	B1Q2M0|B4DEF6|Q8N989	Silent	SNP	ENST00000428149.2	37	CCDS8337.2																																																																																			C|0.896;G|0.104	0.104	strong		0.443	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		G	107427616	C	G	107427616	2	3	22	1	0	0	0	0	0	0	0	1	533	523	19	4		4	ALKBH8	11	107427616	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2456359	107427616	27578900	6416	11524										
ELMOD1	55531	hgsc.bcm.edu	37	chr11	107501428	107501428	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttgctgctttcacagaaAcatcactgagggattctaaa	8	8	3	2	rs201717101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:107501428A>T	ENST00000265840.7	+	4	431	c.166A>T	c.(166-168)Aca>Tca	p.T56S	ELMOD1_ENST00000443271.2_Missense_Mutation_p.T56S|ELMOD1_ENST00000531234.1_Missense_Mutation_p.T50S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	56					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTTCACAGAAACATCACTGAG	0.313													A|||	6	0.00119808	0.0045	0.0	5008	,	,		19465	0.0		0.0	False		,,,				2504	0.0				p.T56S		Atlas-SNP	.											.	ELMOD1	40	.	0			c.A166T						PASS	.	A	SER/THR,SER/THR	8,3684		0,8,1838	93	89	90		166,166	3.2	1	11		90	0,8158		0,0,4079	yes	missense,missense	ELMOD1	NM_001130037.1,NM_018712.3	58,58	0,8,5917	TT,TA,AA		0.0,0.2167,0.0675	benign,benign	56/327,56/335	107501428	8,11842	1846	4079	5925	SO:0001583	missense	55531	exon4			ACAGAAACATCAC	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.166A>T	11.37:g.107501428A>T	ENSP00000265840:p.Thr56Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	152	58	0.381579	NM_018712	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251659	0.22880	0.002167	0.0	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.62	3.19	0.36642	.	0.250304	0.42294	D	0.000737	T	0.09686	0.0238	N	0.01277	-0.915	0.30939	N	0.726031	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	9	0.08381	T	0.77	.	4.3202	0.11013	0.5821:0.0:0.178:0.2399	.	56;56	Q8N336;G5E9S5	ELMD1_HUMAN;.	S	50;56;56	.	ENSP00000265840:T56S	T	+	1	0	ELMOD1	107006638	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.228000	0.32588	0.957000	0.37930	0.533000	0.62120	ACA	.	.	weak		0.313	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		T	107501428	A	T	107501428	3	4	22	1	0	0	0	0	1	0	0	0	5068	43	2	5	176	5	ELMOD1	11	107501428	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	73812	107501428	27505088	6417	11525										
CUL5	8065	hgsc.bcm.edu	37	chr11	107943124	107943124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagagccaatgttgaaagacTtggaggaacatatcattagt	10	5	1	3	rs111339569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:107943124T>C	ENST00000393094.2	+	9	1556	c.940T>C	c.(940-942)Ttg>Ctg	p.L314L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	314					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GTTGAAAGACTTGGAGGAACA	0.348													T|||	72	0.014377	0.053	0.0029	5008	,	,		19109	0.0		0.0	False		,,,				2504	0.0				p.L314L		Atlas-SNP	.											.	CUL5	71	.	0			c.T940C						PASS	.	T		204,4198	127.0+/-164.0	4,196,2001	113	111	112		940	3.9	1	11	dbSNP_132	112	1,8595		0,1,4297	no	coding-synonymous	CUL5	NM_003478.3		4,197,6298	CC,CT,TT		0.0116,4.6343,1.5772		314/781	107943124	205,12793	2201	4298	6499	SO:0001819	synonymous_variant	8065	exon9			AAAGACTTGGAGG	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.940T>C	11.37:g.107943124T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	62	28	0.451613	NM_003478	A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	CCDS31668.1																																																																																			T|0.987;C|0.013	0.013	strong		0.348	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			C	107943124	T	C	107943124	2	2	22	1	0	0	0	0	0	0	0	1	4059	1606	56	3		3	CUL5	11	107943124	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	441696	107943124	27063392	6418	11526										
ATM	472	hgsc.bcm.edu	37	chr11	108143299	108143299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatatattctctgtaagaAtggccctagtaaattgcctt	6	7	1	1	rs3092857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108143299A>G	ENST00000452508.2	+	22	3307	c.3118A>G	c.(3118-3120)Atg>Gtg	p.M1040V	ATM_ENST00000278616.4_Missense_Mutation_p.M1040V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1040			M -> V (in B-cell non-Hodgkin lymphoma; dbSNP:rs3092857). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.M1040V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTCTGTAAGAATGGCCCTAGT	0.303			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A|||	71	0.0141773	0.053	0.0014	5008	,	,		17666	0.0		0.0	False		,,,				2504	0.0				p.M1040V		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	ATM_ENST00000278616,colon,carcinoma,-1,7	ATM	1657	7	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A3118G						PASS	.	A	VAL/MET	177,4225	112.5+/-150.6	1,175,2025	112	117	115	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3118	-1.1	1	11	dbSNP_103	115	0,8596		0,0,4298	yes	missense	ATM	NM_000051.3	21	1,175,6323	GG,GA,AA		0.0,4.0209,1.3617	benign	1040/3057	108143299	177,12821	2201	4298	6499	SO:0001583	missense	472	exon21	Familial Cancer Database	AT, Louis-Bar syndrome	GTAAGAATGGCCC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3118A>G	11.37:g.108143299A>G	ENSP00000388058:p.Met1040Val	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	142	51	0.359155	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	A	0.185	-1.058171	0.01950	0.040209	0.0	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.68624	-0.34;-0.34;-0.34	5.43	-1.09	0.09904	Armadillo-type fold (1);	0.532223	0.22706	N	0.056633	T	0.10380	0.0254	L	0.35723	1.085	0.20926	N	0.999827	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	10	0.02654	T	1	.	6.8803	0.24168	0.4453:0.1325:0.4222:0.0	rs3092857;rs17107892;rs52804880;rs3092857	1040	Q13315	ATM_HUMAN	V	1040	ENSP00000435747:M1040V;ENSP00000278616:M1040V;ENSP00000388058:M1040V	ENSP00000278616:M1040V	M	+	1	0	ATM	107648509	0.995000	0.38212	0.990000	0.47175	0.533000	0.34776	0.324000	0.19610	-0.134000	0.11516	0.533000	0.62120	ATG	A|0.985;G|0.015	0.015	strong		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108143299	A	G	108143299	3	3	22	1	0	0	0	0	1	0	0	0	1109	101	4	2	3196	2	ATM	11	108143299	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	200175	108143299	26863217	6419	11527										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108380609	108380609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatatagatattgcagaCctgggacctgtttttgtccc	9	9	0	2	rs115867994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108380609C>T	ENST00000265843.4	-	6	5735	c.5625G>A	c.(5623-5625)agG>agA	p.R1875R	EXPH5_ENST00000443411.1_Silent_p.R1687R|EXPH5_ENST00000428840.1_Silent_p.R1799R|EXPH5_ENST00000525344.1_Silent_p.R1868R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1875					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATATTGCAGACCTGGGACCTG	0.418													C|||	66	0.0131789	0.0492	0.0014	5008	,	,		19501	0.0		0.0	False		,,,				2504	0.0				p.R1875R		Atlas-SNP	.											.	EXPH5	193	.	0			c.G5625A						PASS	.	C		174,4228	114.6+/-152.6	0,174,2027	62	63	63		5625	2.2	0.2	11	dbSNP_132	63	0,8596		0,0,4298	no	coding-synonymous	EXPH5	NM_015065.2		0,174,6325	TT,TC,CC		0.0,3.9527,1.3387		1875/1990	108380609	174,12824	2201	4298	6499	SO:0001819	synonymous_variant	23086	exon6			TGCAGACCTGGGA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5625G>A	11.37:g.108380609C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	157	74	0.471338	NM_015065	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																			C|0.986;T|0.014	0.014	strong		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108380609	C	T	108380609	2	4	22	1	0	0	0	0	0	0	0	1	5322	506	18	2		2	EXPH5	11	108380609	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	237310	108380609	26625907	6420	11528										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108380740	108380740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcattcccaagggtcagtcGactcagggcattgtcaatag	10	10	4	0	rs36005552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108380740G>C	ENST00000265843.4	-	6	5604	c.5494C>G	c.(5494-5496)Cga>Gga	p.R1832G	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1644G|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1756G|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1825G	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1832					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGGTCAGTCGACTCAGGGCA	0.443													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		20136	0.0		0.0	False		,,,				2504	0.0				p.R1832G		Atlas-SNP	.											.	EXPH5	193	.	0			c.C5494G						PASS	.	G	GLY/ARG	134,4268	96.2+/-134.9	0,134,2067	63	63	63		5494	0.4	0	11	dbSNP_126	63	0,8596		0,0,4298	yes	missense	EXPH5	NM_015065.2	125	0,134,6365	CC,CG,GG		0.0,3.0441,1.0309	benign	1832/1990	108380740	134,12864	2201	4298	6499	SO:0001583	missense	23086	exon6			TCAGTCGACTCAG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5494C>G	11.37:g.108380740G>C	ENSP00000265843:p.Arg1832Gly	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	89	56	0.629214	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	G	8.864	0.947649	0.18356	0.030441	0.0	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.03181	4.24;4.17;4.02;4.24	6.17	0.414	0.16406	.	1.706240	0.03093	N	0.160006	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.43294	-0.9400	10	0.41790	T	0.15	7.6536	3.311	0.07016	0.1263:0.1752:0.4527:0.2458	rs36005552	1832	Q8NEV8	EXPH5_HUMAN	G	1832;1756;1644;1825;662	ENSP00000265843:R1832G;ENSP00000391966:R1756G;ENSP00000411390:R1644G;ENSP00000432546:R1825G	ENSP00000265843:R1832G	R	-	1	2	EXPH5	107885950	0.000000	0.05858	0.047000	0.18901	0.426000	0.31534	0.086000	0.14935	0.144000	0.18951	0.655000	0.94253	CGA	G|0.990;C|0.010	0.010	strong		0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		C	108380740	G	C	108380740	3	2	22	1	0	0	0	0	1	0	0	0	5322	1066	37	4	479	4	EXPH5	11	108380740	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131	108380740	26625776	6421	11529										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108383560	108383560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagcatcaagggaagaatTctttgatggtgaggaatctg	14	4	3	3	rs10890850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108383560T>A	ENST00000265843.4	-	6	2784	c.2674A>T	c.(2674-2676)Aat>Tat	p.N892Y	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.N704Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.N816Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.N885Y	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	892			N -> Y (in dbSNP:rs10890850).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGGAAGAATTCTTTGATGGT	0.438													T|||	270	0.0539137	0.1316	0.0115	5008	,	,		19382	0.0119		0.002	False		,,,				2504	0.0757				p.N892Y		Atlas-SNP	.											.	EXPH5	193	.	0			c.A2674T						PASS	.	T	TYR/ASN	493,3909	229.8+/-244.2	29,435,1737	182	167	172		2674	-2	0	11	dbSNP_120	172	9,8587	7.1+/-27.0	0,9,4289	yes	missense	EXPH5	NM_015065.2	143	29,444,6026	AA,AT,TT		0.1047,11.1995,3.8621	benign	892/1990	108383560	502,12496	2201	4298	6499	SO:0001583	missense	23086	exon6			AAGAATTCTTTGA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2674A>T	11.37:g.108383560T>A	ENSP00000265843:p.Asn892Tyr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	130	86	0.661538	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	59	0.027014652014652016	46	0.09349593495934959	5	0.013812154696132596	7	0.012237762237762238	1	0.0013192612137203166	T	14.92	2.680490	0.47886	0.111995	0.001047	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04603	4.17;4.1;3.95;4.17;4.02;3.59	5.74	-1.97	0.07503	.	0.712890	0.13437	N	0.387972	T	0.00109	0.0003	L	0.44542	1.39	0.09310	N	1	P	0.49090	0.919	B	0.43445	0.42	T	0.40813	-0.9543	10	0.72032	D	0.01	-0.8859	6.5046	0.22188	0.0:0.4682:0.1578:0.3739	rs10890850;rs10890850	892	Q8NEV8	EXPH5_HUMAN	Y	892;816;704;885;816;704	ENSP00000265843:N892Y;ENSP00000391966:N816Y;ENSP00000411390:N704Y;ENSP00000432546:N885Y;ENSP00000432683:N816Y;ENSP00000446434:N704Y	ENSP00000265843:N892Y	N	-	1	0	EXPH5	107888770	0.000000	0.05858	0.002000	0.10522	0.230000	0.25150	-0.173000	0.09854	-0.270000	0.09285	0.460000	0.39030	AAT	T|0.967;A|0.033	0.033	strong		0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108383560	T	A	108383560	3	1	22	1	0	0	0	0	1	0	0	0	5322	1783	62	5	3299	5	EXPH5	11	108383560	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2820	108383560	26622956	6422	11530										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108383676	108383676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcattttgagtatcagtcAgtgcagagctccagtggtta	12	7	2	2	rs10749920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108383676A>G	ENST00000265843.4	-	6	2668	c.2558T>C	c.(2557-2559)cTg>cCg	p.L853P	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.L665P|EXPH5_ENST00000428840.1_Missense_Mutation_p.L777P|EXPH5_ENST00000525344.1_Missense_Mutation_p.L846P	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	853			L -> P (in dbSNP:rs10749920).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTATCAGTCAGTGCAGAGCT	0.403													G|||	1795	0.358427	0.6876	0.1844	5008	,	,		19778	0.2093		0.1909	False		,,,				2504	0.363				p.L853P		Atlas-SNP	.											.	EXPH5	193	.	0			c.T2558C						PASS	.	G	PRO/LEU	2667,1735	518.5+/-369.7	837,993,371	235	228	231		2558	1.3	0	11	dbSNP_120	231	1594,7002	743.4+/-407.2	166,1262,2870	yes	missense	EXPH5	NM_015065.2	98	1003,2255,3241	GG,GA,AA		18.5435,39.4139,32.782	benign	853/1990	108383676	4261,8737	2201	4298	6499	SO:0001583	missense	23086	exon6			TCAGTCAGTGCAG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2558T>C	11.37:g.108383676A>G	ENSP00000265843:p.Leu853Pro	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	650	0.2976190476190476	324	0.6585365853658537	61	0.1685082872928177	132	0.23076923076923078	133	0.17546174142480211	G	0.483	-0.879129	0.02550	0.605861	0.185435	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03801	4.39;4.32;4.16;4.39;4.25;3.8	5.4	1.31	0.21738	.	0.983285	0.08319	N	0.964210	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35525	-0.9785	9	0.05620	T	0.96	0.8463	2.5384	0.04720	0.1563:0.2705:0.4337:0.1395	rs10749920;rs12786084;rs17108124;rs52803067;rs58088271;rs10749920	853	Q8NEV8	EXPH5_HUMAN	P	853;777;665;846;777;665	ENSP00000265843:L853P;ENSP00000391966:L777P;ENSP00000411390:L665P;ENSP00000432546:L846P;ENSP00000432683:L777P;ENSP00000446434:L665P	ENSP00000265843:L853P	L	-	2	0	EXPH5	107888886	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.200000	0.09478	-0.133000	0.11537	-0.213000	0.12676	CTG	A|0.676;G|0.324	0.324	strong		0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108383676	A	G	108383676	3	3	22	1	0	0	0	0	1	0	0	0	5322	188	7	3	3415	3	EXPH5	11	108383676	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	116	108383676	26622840	6423	11531										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108384207	108384207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtcaactgaattgctgCtggtcacagtgacttctgta	11	8	3	3	rs2846412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108384207C>T	ENST00000265843.4	-	6	2137	c.2027G>A	c.(2026-2028)aGc>aAc	p.S676N	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.S488N|EXPH5_ENST00000428840.1_Missense_Mutation_p.S600N|EXPH5_ENST00000525344.1_Missense_Mutation_p.S669N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	676			S -> N (in dbSNP:rs2846412). {ECO:0000269|PubMed:12062444, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAATTGCTGCTGGTCACAGT	0.413													T|||	3211	0.641174	0.6982	0.5533	5008	,	,		20113	0.8542		0.4384	False		,,,				2504	0.6155				p.S676N		Atlas-SNP	.											.	EXPH5	193	.	0			c.G2027A						PASS	.	T	ASN/SER	2893,1509	479.2+/-358.4	976,941,284	119	114	116		2027	1.1	0	11	dbSNP_100	116	3627,4969	624.4+/-397.6	786,2055,1457	yes	missense	EXPH5	NM_015065.2	46	1762,2996,1741	TT,TC,CC		42.194,34.2799,49.8384	benign	676/1990	108384207	6520,6478	2201	4298	6499	SO:0001583	missense	23086	exon6			TTGCTGCTGGTCA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2027G>A	11.37:g.108384207C>T	ENSP00000265843:p.Ser676Asn	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	1351	0.6185897435897436	333	0.676829268292683	176	0.4861878453038674	506	0.8846153846153846	336	0.44327176781002636	T	0.006	-2.111572	0.00353	0.657201	0.42194	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03831	4.38;4.3;4.15;4.38;4.23;3.79	6.03	1.14	0.20703	.	0.625758	0.16479	N	0.212613	T	0.00012	0.0000	N	0.00823	-1.155	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	9	0.02654	T	1	-0.745	9.5688	0.39416	0.0:0.3732:0.0:0.6268	rs2846412;rs3824986;rs52806719;rs59043239;rs2846412	676	Q8NEV8	EXPH5_HUMAN	N	676;600;488;669;520;600;488	ENSP00000265843:S676N;ENSP00000391966:S600N;ENSP00000411390:S488N;ENSP00000432546:S669N;ENSP00000432683:S600N;ENSP00000446434:S488N	ENSP00000265843:S676N	S	-	2	0	EXPH5	107889417	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	0.673000	0.25203	-0.041000	0.13558	-1.396000	0.01147	AGC	C|0.440;T|0.560	0.560	strong		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108384207	C	T	108384207	3	4	22	1	0	0	0	0	1	0	0	0	5322	797	28	2	3946	2	EXPH5	11	108384207	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	531	108384207	26622309	6424	11532										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108384857	108384857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtattgctgaagaaagaTctggtaaatgtgttgctttg	12	3	1	3	rs116565594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:108384857T>C	ENST00000265843.4	-	6	1487	c.1377A>G	c.(1375-1377)agA>agG	p.R459R	EXPH5_ENST00000443411.1_Silent_p.R271R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R383R|EXPH5_ENST00000525344.1_Silent_p.R452R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	459					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAAGAAAGATCTGGTAAATG	0.438													T|||	64	0.0127796	0.0477	0.0014	5008	,	,		22659	0.0		0.0	False		,,,				2504	0.0				p.R459R		Atlas-SNP	.											.	EXPH5	193	.	0			c.A1377G						PASS	.	T		168,4234	112.5+/-150.6	0,168,2033	158	150	152		1377	2.5	1	11	dbSNP_132	152	0,8596		0,0,4298	no	coding-synonymous	EXPH5	NM_015065.2		0,168,6331	CC,CT,TT		0.0,3.8164,1.2925		459/1990	108384857	168,12830	2201	4298	6499	SO:0001819	synonymous_variant	23086	exon6			GAAAGATCTGGTA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1377A>G	11.37:g.108384857T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	116	55	0.474138	NM_015065	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																			T|0.987;C|0.013	0.013	strong		0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		C	108384857	T	C	108384857	2	2	22	1	0	0	0	0	0	0	0	1	5322	1432	50	2		2	EXPH5	11	108384857	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	650	108384857	26621659	6425	11533										
ZC3H12C	85463	hgsc.bcm.edu	37	chr11	110007834	110007834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaagcaaagaaaccaccTgatgtggtgcgagaatacca	11	8	0	3	rs78240010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:110007834T>C	ENST00000278590.3	+	2	519	c.468T>C	c.(466-468)ccT>ccC	p.P156P	ZC3H12C_ENST00000528673.1_Silent_p.P157P|ZC3H12C_ENST00000453089.2_Silent_p.P125P	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	156							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGAAACCACCTGATGTGGTGC	0.413													N|||	66	0.0131789	0.0431	0.0043	5008	,	,		22894	0.003		0.0	False		,,,				2504	0.0031				p.P156P		Atlas-SNP	.											.	ZC3H12C	83	.	0			c.T468C						PASS	.	C		127,3593		4,119,1737	71	66	67		468	-8.4	0.9	11	dbSNP_132	67	0,8192		0,0,4096	no	coding-synonymous	ZC3H12C	NM_033390.1		4,119,5833	CC,CT,TT		0.0,3.414,1.0662		156/884	110007834	127,11785	1860	4096	5956	SO:0001819	synonymous_variant	85463	exon2			ACCACCTGATGTG		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.468T>C	11.37:g.110007834T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	54	24	0.444444	NM_033390	B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	CCDS44727.1																																																																																			T|0.992;C|0.008	0.008	strong		0.413	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		C	110007834	T	C	110007834	2	2	22	1	0	0	0	0	0	0	0	1	17560	1567	55	3		3	ZC3H12C	11	110007834	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1622977	110007834	24998682	6426	11534										
RDX	5962	hgsc.bcm.edu	37	chr11	110118459	110118459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaattgtctgctcttcaatTtgttttagacgttccattag	6	7	3	1	rs139953187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:110118459T>C	ENST00000343115.4	-	10	1378	c.1059A>G	c.(1057-1059)caA>caG	p.Q353Q	RDX_ENST00000528900.1_Silent_p.Q6Q|RDX_ENST00000405097.1_Silent_p.Q353Q|RDX_ENST00000544551.1_Silent_p.Q217Q|RDX_ENST00000528498.1_Silent_p.Q353Q|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	353	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCTTCAATTTGTTTTAGAC	0.308													T|||	53	0.0105831	0.0333	0.0115	5008	,	,		17959	0.0		0.001	False		,,,				2504	0.0				p.Q353Q	Esophageal Squamous(55;25 1062 11040 28755 44273)	Atlas-SNP	.											.	RDX	59	.	0			c.A1059G						PASS	.	T		107,4289	79.3+/-117.8	1,105,2092	134	122	126		1059	2.8	1	11	dbSNP_134	126	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RDX	NM_002906.3		1,106,6385	CC,CT,TT		0.0116,2.434,0.8318		353/584	110118459	108,12876	2198	4294	6492	SO:0001819	synonymous_variant	5962	exon10			TTCAATTTGTTTT	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1059A>G	11.37:g.110118459T>C		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	163	99	0.607362	NM_001260493	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	CCDS8343.1																																																																																			T|0.989;C|0.011	0.011	strong		0.308	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		C	110118459	T	C	110118459	2	2	22	1	0	0	0	0	0	0	0	1	13198	1838	64	2		2	RDX	11	110118459	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110625	110118459	24888057	6427	11535										
ARHGAP20	57569	hgsc.bcm.edu	37	chr11	110451470	110451470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatctttttgagaaagaaTtgcatcacagctggacttgc	8	8	3	2	rs151169911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:110451470T>C	ENST00000260283.4	-	16	2484	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I698V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I708V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I698V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I711V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I277V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I708V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	734					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGAGAAAGAATTGCATCACAG	0.448													T|||	3	0.000599042	0.0023	0.0	5008	,	,		21606	0.0		0.0	False		,,,				2504	0.0				p.I734V		Atlas-SNP	.											.	ARHGAP20	150	.	0			c.A2200G						PASS	.	T	VAL/ILE	10,4392	15.5+/-35.6	0,10,2191	66	69	68		2200	-1.6	0	11	dbSNP_134	68	0,8596		0,0,4298	yes	missense	ARHGAP20	NM_020809.2	29	0,10,6489	CC,CT,TT		0.0,0.2272,0.0769	benign	734/1192	110451470	10,12988	2201	4298	6499	SO:0001583	missense	57569	exon16			AAAGAATTGCATC	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2200A>G	11.37:g.110451470T>C	ENSP00000260283:p.Ile734Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	4.295	0.054024	0.08291	0.002272	0.0	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.07908	3.15;3.15;3.18;3.15;3.15;3.15;3.15	5.93	-1.65	0.08291	.	0.430046	0.22922	N	0.054011	T	0.03220	0.0094	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.002	T	0.44205	-0.9343	10	0.06365	T	0.9	.	13.7174	0.62705	0.0:0.7298:0.0:0.2702	.	708;734;711	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	734;708;277;711;698;708;698	ENSP00000260283:I734V;ENSP00000349660:I708V;ENSP00000437905:I277V;ENSP00000432076:I711V;ENSP00000436319:I698V;ENSP00000436522:I708V;ENSP00000431399:I698V	ENSP00000260283:I734V	I	-	1	0	ARHGAP20	109956680	0.028000	0.19301	0.033000	0.17914	0.860000	0.49131	0.237000	0.17985	-0.263000	0.09378	-0.408000	0.06270	ATT	T|0.999;C|0.001	0.001	strong		0.448	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		C	110451470	T	C	110451470	3	2	22	1	0	0	0	0	1	0	0	0	870	1493	52	2	1379	2	ARHGAP20	11	110451470	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	333011	110451470	24555046	6428	11536										
C11orf53	341032	hgsc.bcm.edu	37	chr11	111156523	111156523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcacaggggctcaagctGggggtcatccctggctgggg	17	12	2	0	rs74649813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:111156523G>T	ENST00000280325.4	+	4	602	c.455G>T	c.(454-456)tGg>tTg	p.W152L		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	152										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGCTCAAGCTGGGGGTCATCC	0.642													G|||	223	0.0445288	0.1589	0.0187	5008	,	,		21186	0.0		0.0	False		,,,				2504	0.0				p.W152L		Atlas-SNP	.											C11orf53,NS,haematopoietic_neoplasm,-1,1	C11orf53	17	1	0			c.G455T						PASS	.	G	LEU/TRP	526,3876	237.4+/-249.2	36,454,1711	75	72	73		455	5.2	1	11	dbSNP_131	73	3,8591	2.2+/-6.3	0,3,4294	yes	missense	C11orf53	NM_198498.1	61	36,457,6005	TT,TG,GG		0.0349,11.9491,4.0705	probably-damaging	152/237	111156523	529,12467	2201	4297	6498	SO:0001583	missense	341032	exon4			CAAGCTGGGGGTC	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.455G>T	11.37:g.111156523G>T	ENSP00000280325:p.Trp152Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	56	34	0.607143	NM_198498		Missense_Mutation	SNP	ENST00000280325.4	37	CCDS31674.1	86	0.039377289377289376	77	0.1565040650406504	9	0.024861878453038673	0	0.0	0	0.0	G	18.56	3.650861	0.67472	0.119491	3.49E-4	ENSG00000150750	ENST00000280325	.	.	.	5.15	5.15	0.70609	.	0.069080	0.64402	D	0.000009	T	0.00754	0.0025	M	0.67953	2.075	0.24566	P	0.99394883	D	0.89917	1.0	D	0.87578	0.998	T	0.23833	-1.0177	8	0.12103	T	0.63	-12.1586	16.1285	0.81410	0.0:0.0:1.0:0.0	.	152	Q8IXP5	CK053_HUMAN	L	152	.	ENSP00000280325:W152L	W	+	2	0	C11orf53	110661733	1.000000	0.71417	0.995000	0.50966	0.655000	0.38815	6.849000	0.75414	2.402000	0.81655	0.561000	0.74099	TGG	G|0.961;T|0.039	0.039	strong		0.642	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		T	111156523	G	T	111156523	3	4	22	1	0	0	0	0	1	0	0	0	1648	1357	47	4	465	4	C11orf53	11	111156523	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	705053	111156523	23849993	6429	11537										
SIK2	23235	hgsc.bcm.edu	37	chr11	111594520	111594520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctcctcctctgcccacGcagctacagcagcagcagcc	9	19	1	0	rs75997369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:111594520G>A	ENST00000304987.3	+	15	2621	c.2448G>A	c.(2446-2448)acG>acA	p.T816T		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	816					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCTGCCCACGCAGCTACAGC	0.637													G|||	9	0.00179712	0.0068	0.0	5008	,	,		10597	0.0		0.0	False		,,,				2504	0.0				p.T816T		Atlas-SNP	.											.	SIK2	89	.	0			c.G2448A						PASS	.	G		48,4354	49.6+/-84.7	0,48,2153	64	72	69		2448	-8.7	0	11	dbSNP_131	69	0,8594		0,0,4297	no	coding-synonymous	SIK2	NM_015191.1		0,48,6450	AA,AG,GG		0.0,1.0904,0.3693		816/927	111594520	48,12948	2201	4297	6498	SO:0001819	synonymous_variant	23235	exon15			GCCCACGCAGCTA	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2448G>A	11.37:g.111594520G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	57	36	0.631579	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	CCDS8347.1																																																																																			G|0.997;A|0.003	0.003	strong		0.637	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		A	111594520	G	A	111594520	2	1	22	1	0	0	0	0	0	0	0	1	14318	1074	38	1		1	SIK2	11	111594520	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	437997	111594520	23411996	6430	11538										
DLAT	1737	hgsc.bcm.edu	37	chr11	111908137	111908137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctgactataggccaaccGaagtaacagatttaaaacca	7	9	0	2	rs116125936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:111908137G>A	ENST00000280346.6	+	6	1587	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	DLAT_ENST00000537636.1_Missense_Mutation_p.E81K|DLAT_ENST00000393051.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	310					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TAGGCCAACCGAAGTAACAGA	0.448													G|||	24	0.00479233	0.0166	0.0029	5008	,	,		19194	0.0		0.0	False		,,,				2504	0.0				p.E310K		Atlas-SNP	.											.	DLAT	39	.	0			c.G928A						PASS	.	G	LYS/GLU	97,4305	78.3+/-116.7	0,97,2104	75	75	75		928	6.1	1	11	dbSNP_132	75	0,8594		0,0,4297	yes	missense	DLAT	NM_001931.4	56	0,97,6401	AA,AG,GG		0.0,2.2035,0.7464	benign	310/648	111908137	97,12899	2201	4297	6498	SO:0001583	missense	1737	exon6			CCAACCGAAGTAA	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.928G>A	11.37:g.111908137G>A	ENSP00000280346:p.Glu310Lys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_001931	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	15.75	2.925111	0.52759	0.022035	0.0	ENSG00000150768	ENST00000280346;ENST00000531306;ENST00000537636	T;T;T	0.21932	1.98;1.98;1.98	6.07	6.07	0.98685	Single hybrid motif (1);	0.512867	0.20290	N	0.095276	T	0.08179	0.0204	N	0.19112	0.55	0.40612	D	0.981685	B;B	0.21520	0.057;0.057	B;B	0.19148	0.024;0.024	T	0.16335	-1.0406	10	0.12103	T	0.63	-12.1494	20.6525	0.99598	0.0:0.0:1.0:0.0	.	310;310	Q86YI5;P10515	.;ODP2_HUMAN	K	310;142;81	ENSP00000280346:E310K;ENSP00000433432:E142K;ENSP00000442427:E81K	ENSP00000280346:E310K	E	+	1	0	DLAT	111413347	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	9.458000	0.97634	2.890000	0.99128	0.585000	0.79938	GAA	G|0.992;A|0.008	0.008	strong		0.448	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		A	111908137	G	A	111908137	3	1	22	1	0	0	0	0	1	0	0	0	4549	1059	37	1	950	1	DLAT	11	111908137	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	313617	111908137	23098379	6431	11539										
BCO2	83875	hgsc.bcm.edu	37	chr11	112071464	112071464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaaccccagtgtaatacgCggtttcatgtggtggaaaaa	13	7	1	0	rs115780398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:112071464C>T	ENST00000357685.5	+	7	1129	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	BCO2_ENST00000393032.2_Missense_Mutation_p.R298W|BCO2_ENST00000526088.1_Missense_Mutation_p.R298W|BCO2_ENST00000438022.1_Missense_Mutation_p.R298W|BCO2_ENST00000532593.1_Missense_Mutation_p.R227W|BCO2_ENST00000531169.1_Missense_Mutation_p.R298W|BCO2_ENST00000361053.4_Missense_Mutation_p.R259W			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	332					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GTGTAATACGCGGTTTCATGT	0.398													C|||	31	0.0061901	0.0212	0.0014	5008	,	,		18093	0.002		0.0	False		,,,				2504	0.0				p.R332W	GBM(177;1916 2099 21049 29541 39946)	Atlas-SNP	.											BCO2,colon,carcinoma,0,1	BCO2	44	1	0			c.C994T						PASS	.	C	TRP/ARG,TRP/ARG	81,4321	69.8+/-107.6	0,81,2120	120	123	122		892,994	0	0	11	dbSNP_132	122	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	BCO2	NM_001037290.1,NM_031938.4	101,101	0,82,6416	TT,TC,CC		0.0116,1.8401,0.631	probably-damaging,probably-damaging	298/546,332/580	112071464	82,12914	2201	4297	6498	SO:0001583	missense	83875	exon7			AATACGCGGTTTC	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.994C>T	11.37:g.112071464C>T	ENSP00000350314:p.Arg332Trp	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	64	35	0.546875	NM_031938	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	16	0.007326007326007326	13	0.026422764227642278	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	5.058	0.196301	0.09599	0.018401	1.16E-4	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.45	0.0177	0.14113	.	0.629740	0.16560	N	0.209094	D	0.85120	0.5624	L	0.39566	1.225	0.09310	N	1	D;D;D;D	0.63046	0.965;0.99;0.965;0.992	P;P;P;P	0.58970	0.788;0.659;0.788;0.849	T	0.81052	-0.1107	10	0.37606	T	0.19	-11.5438	1.2953	0.02068	0.2227:0.4126:0.1085:0.2562	.	309;259;332;159	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	W	332;298;259;298;298;227;298	ENSP00000350314:R332W;ENSP00000376752:R298W;ENSP00000354338:R259W;ENSP00000414843:R298W;ENSP00000436615:R298W;ENSP00000431802:R227W;ENSP00000437053:R298W	ENSP00000350314:R332W	R	+	1	2	BCO2	111576674	0.000000	0.05858	0.010000	0.14722	0.089000	0.18198	0.047000	0.14056	0.024000	0.15214	-0.203000	0.12734	CGG	C|0.994;T|0.006	0.006	strong		0.398	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		T	112071464	C	T	112071464	3	4	22	1	0	0	0	0	1	0	0	0	1385	759	27	1	1020	1	BCO2	11	112071464	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	163327	112071464	22935052	6432	11540										
TMPRSS5	80975	hgsc.bcm.edu	37	chr11	113565322	113565322	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcccaggagccacagactgCccaccaactatccgggaagc	10	17	0	1	rs17115841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:113565322C>A	ENST00000299882.5	-	8	811	c.663G>T	c.(661-663)ggG>ggT	p.G221G	TMPRSS5_ENST00000538955.1_Silent_p.G177G|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Silent_p.G212G|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000536856.1_5'UTR	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CCACAGACTGCCCACCAACTA	0.642													C|||	448	0.0894569	0.2186	0.0908	5008	,	,		15182	0.0		0.0746	False		,,,				2504	0.0215				p.G221G		Atlas-SNP	.											TMPRSS5_ENST00000299882,NS,neuroblastoma,-2,2	TMPRSS5	69	2	0			c.G663T						PASS	.	C		655,3211		43,569,1321	11	16	14		663	1.3	1	11	dbSNP_123	14	509,7585		13,483,3551	no	coding-synonymous	TMPRSS5	NM_030770.2		56,1052,4872	AA,AC,CC		6.2886,16.9426,9.7324		221/458	113565322	1164,10796	1933	4047	5980	SO:0001819	synonymous_variant	80975	exon8			AGACTGCCCACCA	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.663G>T	11.37:g.113565322C>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	64	42	0.65625	NM_030770		Silent	SNP	ENST00000299882.5	37	CCDS44735.1																																																																																			C|0.913;A|0.087	0.087	strong		0.642	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		A	113565322	C	A	113565322	2	1	22	1	0	0	0	0	0	0	0	1	16247	726	26	4		4	TMPRSS5	11	113565322	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1493858	113565322	21441194	6433	11541										
HTR3A	3359	hgsc.bcm.edu	37	chr11	113857661	113857661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgtgcctgcttggctgcGtcacctggttctggagagaa	14	12	2	1	rs35815285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:113857661G>A	ENST00000504030.2	+	8	1476	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	HTR3A_ENST00000535865.1_Missense_Mutation_p.R88H|HTR3A_ENST00000355556.2_Missense_Mutation_p.R382H|HTR3A_ENST00000299961.5_Missense_Mutation_p.R329H|HTR3A_ENST00000375498.2_Missense_Mutation_p.R350H|HTR3A_ENST00000506841.2_Missense_Mutation_p.R376H			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	344			R -> H (in dbSNP:rs35815285). {ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCTTGGCTGCGTCACCTGGTT	0.592													G|||	172	0.034345	0.121	0.0144	5008	,	,		17839	0.0		0.002	False		,,,				2504	0.0				p.R382H		Atlas-SNP	.											HTR3A,NS,carcinoma,+1,1	HTR3A	93	1	0			c.G1145A	GRCh37	CM011786	HTR3A	M	rs35815285	scavenged	.	G	HIS/ARG,HIS/ARG,HIS/ARG	419,3983	205.2+/-227.1	17,385,1799	55	50	52		1049,986,1145	3.5	0.6	11	dbSNP_126	52	6,8586	5.0+/-18.6	0,6,4290	yes	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	29,29,29	17,391,6089	AA,AG,GG		0.0698,9.5184,3.2707	possibly-damaging,possibly-damaging,possibly-damaging	350/485,329/464,382/517	113857661	425,12569	2201	4296	6497	SO:0001583	missense	3359	exon7			GGCTGCGTCACCT	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1031G>A	11.37:g.113857661G>A	ENSP00000424189:p.Arg344His	Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	119	69	0.579832	NM_213621	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		59	0.027014652014652016	52	0.10569105691056911	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	G	18.10	3.548612	0.65311	0.095184	6.98E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.87966	-2.32;-0.77;-2.32;-0.77;-2.32;-2.32	5.37	3.51	0.40186	.	0.166108	0.48767	D	0.000170	T	0.12603	0.0306	L	0.45581	1.43	0.44104	D	0.996877	P;D;D	0.58970	0.944;0.98;0.984	P;P;P	0.52957	0.602;0.681;0.714	T	0.55405	-0.8146	10	0.59425	D	0.04	-19.81	6.9616	0.24599	0.3829:0.0:0.6171:0.0	rs35815285	329;382;350	B4DSY6;G5E986;Q7KZM7	.;.;.	H	344;382;350;376;88;329	ENSP00000424189:R344H;ENSP00000347754:R382H;ENSP00000364648:R350H;ENSP00000424776:R376H;ENSP00000437776:R88H;ENSP00000299961:R329H	ENSP00000299961:R329H	R	+	2	0	HTR3A	113362871	1.000000	0.71417	0.646000	0.29493	0.545000	0.35147	4.552000	0.60747	0.765000	0.33221	0.561000	0.74099	CGT	G|0.965;A|0.035	0.035	strong		0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113857661	G	A	113857661	3	1	22	1	0	0	0	0	1	0	0	0	7444	1145	40	1	1197	1	HTR3A	11	113857661	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	292339	113857661	21148855	6434	11542										
FAM55A	120400	hgsc.bcm.edu	37	chr11	114393066	114393066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcacctgatagccggtcaAtttcccgagggatataatca	9	10	3	1	rs34993124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:114393066A>G	ENST00000424269.1	-	5	1267	c.1268T>C	c.(1267-1269)aTt>aCt	p.I423T	NXPE1_ENST00000251921.2_Missense_Mutation_p.I281T|NXPE1_ENST00000536271.1_Missense_Mutation_p.I139T			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	423			I -> T (in dbSNP:rs34993124).			extracellular region (GO:0005576)											TAGCCGGTCAATTTCCCGAGG	0.443													A|||	95	0.0189696	0.0651	0.013	5008	,	,		18652	0.0		0.0	False		,,,				2504	0.0				p.I281T		Atlas-SNP	.											.	NXPE1	8	.	0			c.T842C						PASS	.	A	THR/ILE	254,4148	146.1+/-180.8	4,246,1951	147	140	142		842	2.1	0.6	11	dbSNP_126	142	3,8589	3.0+/-9.4	0,3,4293	yes	missense	FAM55A	NM_152315.2	89	4,249,6244	GG,GA,AA		0.0349,5.7701,1.9778	probably-damaging	281/406	114393066	257,12737	2201	4296	6497	SO:0001583	missense	120400	exon6			CGGTCAATTTCCC	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1268T>C	11.37:g.114393066A>G	ENSP00000411690:p.Ile423Thr	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	161	74	0.459627	NM_152315	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		38	0.0173992673992674	34	0.06910569105691057	4	0.011049723756906077	0	0.0	0	0.0	A	27.2	4.809928	0.90707	0.057701	3.49E-4	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27256	1.68;1.68;1.68	4.44	2.07	0.26955	.	0.082106	0.49916	D	0.000132	T	0.07503	0.0189	M	0.92367	3.3	0.28092	N	0.931779	D	0.76494	0.999	D	0.67382	0.951	T	0.10177	-1.0641	10	0.56958	D	0.05	.	8.0262	0.30438	0.8267:0.0:0.1733:0.0	rs34993124	423	Q8N323	FA55A_HUMAN	T	139;281;423	ENSP00000445200:I139T;ENSP00000251921:I281T;ENSP00000411690:I423T	ENSP00000251921:I281T	I	-	2	0	FAM55A	113898276	0.993000	0.37304	0.643000	0.29450	0.931000	0.56810	1.124000	0.31320	0.298000	0.22638	0.528000	0.53228	ATT	A|0.982;G|0.018	0.018	strong		0.443	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		G	114393066	A	G	114393066	3	3	22	1	0	0	0	0	1	0	0	0	5584	101	4	2	379	2	FAM55A	11	114393066	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	535405	114393066	20613450	6435	11543										
FAM55A	120400	hgsc.bcm.edu	37	chr11	114393757	114393757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccttgtaaagtataacCaccagggacaggaggcttca	9	9	1	0	rs79538449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:114393757C>T	ENST00000424269.1	-	4	951	c.952G>A	c.(952-954)Ggt>Agt	p.G318S	NXPE1_ENST00000251921.2_Missense_Mutation_p.G176S|NXPE1_ENST00000536271.1_Missense_Mutation_p.G34S			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	318						extracellular region (GO:0005576)											AAAGTATAACCACCAGGGACA	0.363													C|||	16	0.00319489	0.0121	0.0	5008	,	,		19211	0.0		0.0	False		,,,				2504	0.0				p.G176S		Atlas-SNP	.											.	NXPE1	8	.	0			c.G526A						PASS	.	C	SER/GLY	56,4346	56.2+/-92.4	0,56,2145	101	91	95		526	4.4	0.2	11	dbSNP_131	95	1,8591	1.2+/-3.3	0,1,4295	yes	missense	FAM55A	NM_152315.2	56	0,57,6440	TT,TC,CC		0.0116,1.2721,0.4387	probably-damaging	176/406	114393757	57,12937	2201	4296	6497	SO:0001583	missense	120400	exon5			TATAACCACCAGG	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.952G>A	11.37:g.114393757C>T	ENSP00000411690:p.Gly318Ser	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	166	99	0.596386	NM_152315	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	33	5.276316	0.95459	0.012721	1.16E-4	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.60797	0.55;0.29;0.16	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000003	T	0.72011	0.3408	M	0.84585	2.705	0.42372	D	0.992458	D	0.89917	1.0	D	0.97110	1.0	T	0.80777	-0.1231	10	0.87932	D	0	.	15.2699	0.73693	0.0:1.0:0.0:0.0	.	318	Q8N323	FA55A_HUMAN	S	34;176;318	ENSP00000445200:G34S;ENSP00000251921:G176S;ENSP00000411690:G318S	ENSP00000251921:G176S	G	-	1	0	FAM55A	113898967	0.425000	0.25498	0.152000	0.22495	0.689000	0.40095	2.280000	0.43443	2.372000	0.80975	0.650000	0.86243	GGT	C|0.997;T|0.003	0.003	strong		0.363	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		T	114393757	C	T	114393757	3	4	22	1	0	0	0	0	1	0	0	0	5584	594	21	2	699	2	FAM55A	11	114393757	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	691	114393757	20612759	6436	11544										
APOA4	337	hgsc.bcm.edu	37	chr11	116692558	116692558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttctgcaggtcacctgcGtaagtgttcacttctccaag	8	12	5	0	rs5101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:116692558G>A	ENST00000357780.3	-	3	330	c.216C>T	c.(214-216)taC>taT	p.Y72Y		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	72	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ggtcacctgcgtAAGTGTTCA	0.547													G|||	488	0.0974441	0.3517	0.0317	5008	,	,		21530	0.0		0.001	False		,,,				2504	0.0				p.Y72Y		Atlas-SNP	.											.	APOA4	51	.	0			c.C216T						PASS	.	G		1211,3191	420.6+/-339.1	162,887,1152	126	117	120		216	0.6	0	11	dbSNP_52	120	9,8583	5.7+/-21.5	0,9,4287	no	coding-synonymous	APOA4	NM_000482.3		162,896,5439	AA,AG,GG		0.1047,27.5102,9.3889		72/397	116692558	1220,11774	2201	4296	6497	SO:0001819	synonymous_variant	337	exon3			ACCTGCGTAAGTG		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.216C>T	11.37:g.116692558G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	85	31	0.364706	NM_000482	A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	CCDS31681.1																																																																																			G|0.883;A|0.117	0.117	strong		0.547	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		A	116692558	G	A	116692558	2	1	22	1	0	0	0	0	0	0	0	1	783	1140	40	1		1	APOA4	11	116692558	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2298801	116692558	18313958	6437	11545										
SIDT2	51092	hgsc.bcm.edu	37	chr11	117050007	117050007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgggcttgcccttcttgGtgctcttggtggcctcggtc	13	13	3	0	rs61729992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117050007G>A	ENST00000324225.4	+	1	559	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	SIDT2_ENST00000431081.2_Missense_Mutation_p.V10M	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	10					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCCCTTCTTGGTGCTCTTGGT	0.677													G|||	43	0.00858626	0.0303	0.0029	5008	,	,		11337	0.0		0.001	False		,,,				2504	0.0				p.V10M		Atlas-SNP	.											.	SIDT2	82	.	0			c.G28A						PASS	.	G	MET/VAL	83,4319	70.3+/-108.2	0,83,2118	72	66	68		28	2.3	0.1	11	dbSNP_129	68	0,8592		0,0,4296	yes	missense	SIDT2	NM_001040455.1	21	0,83,6414	AA,AG,GG		0.0,1.8855,0.6388	benign	10/833	117050007	83,12911	2201	4296	6497	SO:0001583	missense	51092	exon1			TTCTTGGTGCTCT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.28G>A	11.37:g.117050007G>A	ENSP00000314023:p.Val10Met	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	15	0.340909	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	19	0.0086996336996337	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	11.97	1.798338	0.31777	0.018855	0.0	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000392956	T;T;T;T	0.50548	2.12;0.74;2.1;2.12	4.19	2.28	0.28536	.	1.095770	0.07106	N	0.841382	T	0.19644	0.0472	L	0.44542	1.39	0.25313	N	0.989181	B;P;P;B	0.43701	0.126;0.815;0.718;0.232	B;B;B;B	0.43251	0.206;0.413;0.235;0.07	T	0.17806	-1.0357	10	0.62326	D	0.03	-4.7017	5.5137	0.16894	0.1108:0.2032:0.6859:0.0	rs61729992	10;10;10;10	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	M	10	ENSP00000314023:V10M;ENSP00000431176:V10M;ENSP00000278951:V10M;ENSP00000399635:V10M	ENSP00000278951:V10M	V	+	1	0	SIDT2	116555217	1.000000	0.71417	0.081000	0.20488	0.384000	0.30261	3.334000	0.52097	0.393000	0.25203	0.561000	0.74099	GTG	G|0.991;A|0.009	0.009	strong		0.677	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		A	117050007	G	A	117050007	3	1	22	1	0	0	0	0	1	0	0	0	14303	1261	44	2	30	2	SIDT2	11	117050007	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	357449	117050007	17956509	6438	11546										
SIDT2	51092	hgsc.bcm.edu	37	chr11	117062989	117062989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctttggcaaagggaacaCggcgttctggatcgtcttct	13	9	4	0	rs12285035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117062989C>T	ENST00000324225.4	+	20	2423	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	SIDT2_ENST00000431081.2_Missense_Mutation_p.T628M|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	631			T -> M (in dbSNP:rs12285035).		cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAAGGGAACACGGCGTTCTGG	0.617													C|||	83	0.0165735	0.0575	0.0086	5008	,	,		18145	0.0		0.001	False		,,,				2504	0.0				p.T631M		Atlas-SNP	.											.	SIDT2	82	.	0			c.C1892T						PASS	.	C	MET/THR	214,4188	129.8+/-166.5	6,202,1993	114	97	103		1892	3.4	0.9	11	dbSNP_120	103	2,8590	2.2+/-6.3	0,2,4294	yes	missense	SIDT2	NM_001040455.1	81	6,204,6287	TT,TC,CC		0.0233,4.8614,1.6623	benign	631/833	117062989	216,12778	2201	4296	6497	SO:0001583	missense	51092	exon20			GGAACACGGCGTT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1892C>T	11.37:g.117062989C>T	ENSP00000314023:p.Thr631Met	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	34	0.015567765567765568	29	0.05894308943089431	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	9.873	1.199548	0.22121	0.048614	2.33E-4	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.21932	1.98;1.98;1.98	5.47	3.36	0.38483	.	0.304899	0.37761	N	0.001945	T	0.00784	0.0026	N	0.02247	-0.625	0.35238	D	0.777525	B;B;B;B	0.16166	0.013;0.005;0.006;0.016	B;B;B;B	0.15484	0.007;0.003;0.008;0.013	T	0.22661	-1.0210	10	0.32370	T	0.25	-5.8591	8.774	0.34751	0.0:0.6961:0.0:0.3039	rs12285035;rs52809888;rs12285035	652;628;631;652	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	M	631;652;628	ENSP00000314023:T631M;ENSP00000278951:T652M;ENSP00000399635:T628M	ENSP00000278951:T652M	T	+	2	0	SIDT2	116568199	0.066000	0.20996	0.886000	0.34754	0.994000	0.84299	0.421000	0.21280	1.308000	0.44962	0.655000	0.94253	ACG	C|0.978;T|0.022	0.022	strong		0.617	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		T	117062989	C	T	117062989	3	4	22	1	0	0	0	0	1	0	0	0	14303	536	19	1	1970	1	SIDT2	11	117062989	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12982	117062989	17943527	6439	11547										
SIDT2	51092	hgsc.bcm.edu	37	chr11	117063020	117063020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtcttctccatcattcaCatcatcgccaccctgctcct	3	18	5	0	rs12285062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117063020C>T	ENST00000324225.4	+	20	2454	c.1923C>T	c.(1921-1923)caC>caT	p.H641H	SIDT2_ENST00000431081.2_Silent_p.H638H|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	641					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCATCATTCACATCATCGCCA	0.632													C|||	40	0.00798722	0.0272	0.0058	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.0				p.H641H		Atlas-SNP	.											.	SIDT2	82	.	0			c.C1923T						PASS	.	C		125,4277	92.0+/-130.7	2,121,2078	122	102	109		1923	0	1	11	dbSNP_120	109	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	SIDT2	NM_001040455.1		2,123,6372	TT,TC,CC		0.0233,2.8396,0.9774		641/833	117063020	127,12867	2201	4296	6497	SO:0001819	synonymous_variant	51092	exon20			CATTCACATCATC	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1923C>T	11.37:g.117063020C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_001040455	Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	CCDS31682.1																																																																																			C|0.990;T|0.010	0.010	strong		0.632	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		T	117063020	C	T	117063020	2	4	22	1	0	0	0	0	0	0	0	1	14303	477	17	2		2	SIDT2	11	117063020	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31	117063020	17943496	6440	11548										
TAGLN	6876	hgsc.bcm.edu	37	chr11	117075014	117075014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccttcagatgggcagcaAcagaggggcctcccaggccg	15	13	1	2	rs12284316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117075014A>G	ENST00000532870.1	+	4	1686	c.545A>G	c.(544-546)aAc>aGc	p.N182S	TAGLN_ENST00000392951.4_Missense_Mutation_p.N182S|PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000530649.1_Missense_Mutation_p.N182S			Q01995	TAGL_HUMAN	transgelin	182			N -> S (in dbSNP:rs12284316).		epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		ATGGGCAGCAACAGAGGGGCC	0.612													A|||	15	0.00299521	0.0113	0.0	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.0				p.N182S		Atlas-SNP	.											.	TAGLN	17	.	0			c.A545G						PASS	.	A	SER/ASN,SER/ASN	46,4356	48.2+/-83.0	0,46,2155	80	83	82		545,545	4.6	1	11	dbSNP_120	82	0,8592		0,0,4296	yes	missense,missense	TAGLN	NM_001001522.1,NM_003186.3	46,46	0,46,6451	GG,GA,AA		0.0,1.045,0.354	probably-damaging,probably-damaging	182/202,182/202	117075014	46,12948	2201	4296	6497	SO:0001583	missense	6876	exon5			GCAGCAACAGAGG	M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"SM22-alpha", "transgelin variant 2"	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.545A>G	11.37:g.117075014A>G	ENSP00000432282:p.Asn182Ser	Somatic	312	1	0.00320513		WXS	Illumina HiSeq	Phase_I	255	146	0.572549	NM_001001522	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	6|6	0.0027472527472527475|0.0027472527472527475	6|6	0.012195121951219513|0.012195121951219513	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	22.5|22.5	4.294103|4.294103	0.81025|0.81025	0.01045|0.01045	0.0|0.0	ENSG00000149591|ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870|ENST00000529622	T;T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32;-0.32|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Calponin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82231|0.82231	0.4992|0.4992	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71414|.	0.973|.	D|D	0.88266|0.88266	0.2926|0.2926	10|5	0.87932|.	D|.	0|.	.|.	13.0278|13.0278	0.58825|0.58825	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs12284316|rs12284316	182|.	Q01995|.	TAGL_HUMAN|.	S|A	182|132	ENSP00000376678:N182S;ENSP00000432054:N182S;ENSP00000278968:N182S;ENSP00000431941:N182S;ENSP00000432282:N182S|.	ENSP00000278968:N182S|.	N|T	+|+	2|1	0|0	TAGLN|TAGLN	116580224|116580224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.709000|8.709000	0.91379|0.91379	1.954000|1.954000	0.56735|0.56735	0.402000|0.402000	0.26972|0.26972	AAC|ACA	A|0.996;G|0.004	0.004	strong		0.612	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522		G	117075014	A	G	117075014	3	3	22	1	0	0	0	0	1	0	0	0	15535	43	2	2	559	2	TAGLN	11	117075014	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11994	117075014	17931502	6441	11549										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117079687	117079687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttcagctccaagctgccGcgccgtgggtgagtgatgga	15	11	1	2	rs148329047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117079687G>A	ENST00000320934.3	-	13	2247	c.1617C>T	c.(1615-1617)cgC>cgT	p.R539R	PCSK7_ENST00000540028.1_Silent_p.R180R|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	539					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCAAGCTGCCGCGCCGTGGGT	0.617			T	IGH@	MLCLS								G|||	44	0.00878594	0.031	0.0029	5008	,	,		24069	0.0		0.001	False		,,,				2504	0.0				p.R539R		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	PCSK7	59	.	0			c.C1617T						PASS	.	G		81,4321	62.3+/-99.4	0,81,2120	41	42	41		1617	-9.1	0.2	11	dbSNP_134	41	0,8590		0,0,4295	no	coding-synonymous	PCSK7	NM_004716.2		0,81,6415	AA,AG,GG		0.0,1.8401,0.6235		539/786	117079687	81,12911	2201	4295	6496	SO:0001819	synonymous_variant	9159	exon13			GCTGCCGCGCCGT	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1617C>T	11.37:g.117079687G>A		Somatic	393	0	0		WXS	Illumina HiSeq	Phase_I	246	92	0.373984	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1																																																																																			G|0.991;A|0.009	0.009	strong		0.617	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		A	117079687	G	A	117079687	2	1	22	1	0	0	0	0	0	0	0	1	11605	1074	38	1		1	PCSK7	11	117079687	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4673	117079687	17926829	6442	11550										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117089801	117089801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattcacgagcctccaggcgTtgaggaggccgaaaccgtgc	13	13	1	1	rs61729982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117089801T>C	ENST00000320934.3	-	11	2033	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	PCSK7_ENST00000540028.1_Missense_Mutation_p.N109S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	468	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCTCCAGGCGTTGAGGAGGCC	0.607			T	IGH@	MLCLS								T|||	20	0.00399361	0.0151	0.0	5008	,	,		21331	0.0		0.0	False		,,,				2504	0.0				p.N468S		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	PCSK7	59	.	0			c.A1403G						PASS	.	T	SER/ASN	48,4354	49.6+/-84.7	0,48,2153	67	53	57		1403	5.2	0.9	11	dbSNP_129	57	0,8592		0,0,4296	yes	missense	PCSK7	NM_004716.2	46	0,48,6449	CC,CT,TT		0.0,1.0904,0.3694	benign	468/786	117089801	48,12946	2201	4296	6497	SO:0001583	missense	9159	exon11			CAGGCGTTGAGGA	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1403A>G	11.37:g.117089801T>C	ENSP00000325917:p.Asn468Ser	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	41	29	0.707317	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	CCDS8382.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	13.08	2.129420	0.37630	0.010904	0.0	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.83163	-1.69;-1.69	5.2	5.2	0.72013	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.050433	0.85682	D	0.000000	T	0.65688	0.2715	L	0.43923	1.385	0.52501	D	0.999951	B	0.18013	0.025	B	0.17722	0.019	T	0.71583	-0.4549	10	0.59425	D	0.04	-22.611	13.9011	0.63804	0.0:0.0:0.0:1.0	.	468	Q16549	PCSK7_HUMAN	S	468;109;468	ENSP00000325917:N468S;ENSP00000441944:N109S	ENSP00000325917:N468S	N	-	2	0	PCSK7	116595011	0.999000	0.42202	0.924000	0.36721	0.523000	0.34469	3.028000	0.49705	1.977000	0.57605	0.482000	0.46254	AAC	T|0.996;C|0.004	0.004	strong		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		C	117089801	T	C	117089801	3	2	22	1	0	0	0	0	1	0	0	0	11605	1725	60	2	982	2	PCSK7	11	117089801	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10114	117089801	17916715	6443	11551										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117097931	117097931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctgttgttgggcacagcCgcgatctctcctgcacatcg	11	13	1	0	rs45528535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117097931C>T	ENST00000320934.3	-	5	1341	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGGCACAGCCGCGATCTCTC	0.607			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	227	0.0453275	0.1415	0.0375	5008	,	,		18045	0.0		0.0119	False		,,,				2504	0.002				p.A237A		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	PCSK7,NS,carcinoma,-2,1	PCSK7	59	1	0			c.G711A						PASS	.	C		535,3867	243.1+/-252.9	28,479,1694	114	94	101		711	-11.2	0	11	dbSNP_127	101	31,8561	22.2+/-67.0	0,31,4265	no	coding-synonymous	PCSK7	NM_004716.2		28,510,5959	TT,TC,CC		0.3608,12.1536,4.3559		237/786	117097931	566,12428	2201	4296	6497	SO:0001819	synonymous_variant	9159	exon5			CACAGCCGCGATC	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.711G>A	11.37:g.117097931C>T		Somatic	78	0	0	1478	WXS	Illumina HiSeq	Phase_I	79	28	0.35443	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1																																																																																			C|0.956;T|0.044	0.044	strong		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		T	117097931	C	T	117097931	2	4	22	1	0	0	0	0	0	0	0	1	11605	639	23	1		1	PCSK7	11	117097931	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8130	117097931	17908585	6444	11552										
BACE1	23621	hgsc.bcm.edu	37	chr11	117163824	117163824	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctccacccgcacaatgatCacctcataataccactcccg	3	18	3	1	rs638405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117163824C>G	ENST00000313005.6	-	5	1246	c.786G>C	c.(784-786)gtG>gtC	p.V262V	BACE1_ENST00000528053.1_Silent_p.V262V|BACE1_ENST00000510630.1_Silent_p.V137V|BACE1_ENST00000428381.2_Silent_p.V193V|BACE1_ENST00000445823.2_Silent_p.V218V|BACE1_ENST00000513780.1_Silent_p.V237V|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000392937.6_Silent_p.V162V	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	262					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCACAATGATCACCTCATAAT	0.507													C|||	2772	0.553514	0.5363	0.549	5008	,	,		17135	0.6498		0.4076	False		,,,				2504	0.6309				p.V262V		Atlas-SNP	.											.	BACE1	33	.	0			c.G786C						PASS	.	C	,,,,,	2289,2113	601.2+/-389.7	589,1111,501	250	238	242		486,411,786,654,711,579	0.6	1	11	dbSNP_83	242	3400,5192	502.6+/-375.7	683,2034,1579	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_001207048.1,NM_001207049.1,NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,,,	1272,3145,2080	GG,GC,CC		39.5717,48.0009,43.7817	,,,,,	162/402,137/377,262/502,218/458,237/477,193/433	117163824	5689,7305	2201	4296	6497	SO:0001819	synonymous_variant	23621	exon5			AATGATCACCTCA	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.786G>C	11.37:g.117163824C>G		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	114	66	0.578947	NM_012104	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	CCDS8383.1	1119	0.5123626373626373	278	0.5650406504065041	190	0.5248618784530387	354	0.6188811188811189	297	0.391820580474934	C	10.34	1.322171	0.23994	0.519991	0.395717	ENSG00000186318	ENST00000530844;ENST00000504995	.	.	.	6.07	0.58	0.17402	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.40553	-0.9557	3	.	.	.	.	1.3856	0.02240	0.1254:0.3307:0.2724:0.2714	rs638405;rs60889749;rs638405	.	.	.	H	132;192	.	.	D	-	1	0	BACE1	116669034	0.957000	0.32711	1.000000	0.80357	0.977000	0.68977	0.011000	0.13264	0.414000	0.25790	-0.768000	0.03414	GAT	C|0.533;G|0.467	0.467	strong		0.507	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			G	117163824	C	G	117163824	2	3	22	1	0	0	0	0	0	0	0	1	1281	813	29	4		4	BACE1	11	117163824	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	65893	117163824	17842692	6445	11553										
BACE1	23621	hgsc.bcm.edu	37	chr11	117186285	117186285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcccacggtcatctccacgTagtagccctgccccgacttg	9	17	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117186285T>C	ENST00000313005.6	-	1	687	c.227A>G	c.(226-228)tAc>tGc	p.Y76C	BACE1_ENST00000513780.1_Missense_Mutation_p.Y76C|BACE1_ENST00000428381.2_Missense_Mutation_p.Y76C|BACE1_ENST00000528053.1_Missense_Mutation_p.Y76C|BACE1_ENST00000514464.1_5'UTR|AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000445823.2_Missense_Mutation_p.Y76C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	76					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CATCTCCACGTAGTAGCCCTG	0.677																																					p.Y76C		Atlas-SNP	.											.	BACE1	33	.	0			c.A227G						PASS	.						45	44	44					11																	117186285		2201	4296	6497	SO:0001583	missense	23621	exon1			TCCACGTAGTAGC	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.227A>G	11.37:g.117186285T>C	ENSP00000318585:p.Tyr76Cys	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_138972	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420349	0.83559	.	.	ENSG00000186318	ENST00000313005;ENST00000528053;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.99	4.99	0.66335	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.061196	0.64402	D	0.000002	T	0.72179	0.3428	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.982;0.964;0.999	T	0.78186	-0.2302	10	0.87932	D	0	.	12.6208	0.56601	0.0:0.0:0.0:1.0	.	76;76;76;76;76	Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;BACE1_HUMAN;.;.;.	C	76	ENSP00000318585:Y76C;ENSP00000431848:Y76C;ENSP00000402228:Y76C;ENSP00000424536:Y76C;ENSP00000403685:Y76C	ENSP00000318585:Y76C	Y	-	2	0	BACE1	116691495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.012000	0.76366	1.866000	0.54105	0.533000	0.62120	TAC	.	.	none		0.677	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			C	117186285	T	C	117186285	3	2	22	1	0	0	0	0	1	0	0	0	1281	1638	57	2	1314	2	BACE1	11	117186285	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22461	117186285	17820231	6446	11554										
DSCAML1	57453	hgsc.bcm.edu	37	chr11	117303858	117303858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacctgtcactcacccagTtgcttgatgccttctttgtc	8	14	3	1	rs11216382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117303858T>C	ENST00000321322.6	-	29	5203	c.5202A>G	c.(5200-5202)caA>caG	p.Q1734Q	DSCAML1_ENST00000527706.1_Silent_p.Q1464Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1674					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTCACCCAGTTGCTTGATGC	0.587													C|||	706	0.140974	0.2557	0.1758	5008	,	,		18607	0.0565		0.1551	False		,,,				2504	0.0337				p.Q1734Q		Atlas-SNP	.											DSCAML1,NS,carcinoma,-2,1	DSCAML1	286	1	0			c.A5202G						PASS	.	C		1077,3325	719.8+/-409.0	131,815,1255	111	94	100		5202	2.6	1	11	dbSNP_120	100	1439,7153	749.8+/-407.4	118,1203,2975	yes	coding-synonymous	DSCAML1	NM_020693.2		249,2018,4230	CC,CT,TT		16.7481,24.4662,19.3628		1734/2114	117303858	2516,10478	2201	4296	6497	SO:0001819	synonymous_variant	57453	exon29			ACCCAGTTGCTTG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5202A>G	11.37:g.117303858T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																			T|0.826;C|0.174	0.174	strong		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		C	117303858	T	C	117303858	2	2	22	1	0	0	0	0	0	0	0	1	4769	1722	60	2		2	DSCAML1	11	117303858	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	117573	117303858	17702658	6447	11555										
DSCAML1	57453	hgsc.bcm.edu	37	chr11	117329597	117329597	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccacccgctcccgcgtGgtggtgatgttctgcatctc	11	15	2	1	rs115831160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117329597G>C	ENST00000321322.6	-	19	3622	c.3621C>G	c.(3619-3621)acC>acG	p.T1207T	DSCAML1_ENST00000527706.1_Silent_p.T937T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1147	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTCCCGCGTGGTGGTGATGT	0.652													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.0				p.T1207T		Atlas-SNP	.											.	DSCAML1	286	.	0			c.C3621G						PASS	.	G		14,4388	22.3+/-47.3	0,14,2187	104	95	98		3621	-7.8	0.7	11	dbSNP_132	98	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	DSCAML1	NM_020693.2		0,16,6481	CC,CG,GG		0.0233,0.318,0.1231		1207/2114	117329597	16,12978	2201	4296	6497	SO:0001819	synonymous_variant	57453	exon19			CCGCGTGGTGGTG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3621C>G	11.37:g.117329597G>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	48	0.40678	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																			G|0.999;C|0.001	0.001	strong		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		C	117329597	G	C	117329597	2	2	22	1	0	0	0	0	0	0	0	1	4769	1335	47	4		4	DSCAML1	11	117329597	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25739	117329597	17676919	6448	11556										
DSCAML1	57453	hgsc.bcm.edu	37	chr11	117392110	117392110	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttggtgtcagggtcacAtgaaggggatctgggccggg	17	7	4	1	rs35503235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117392110A>G	ENST00000321322.6	-	6	1129	c.1128T>C	c.(1126-1128)caT>caC	p.H376H	DSCAML1_ENST00000527706.1_Silent_p.H106H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	316	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGGGTCACATGAAGGGGAT	0.587													A|||	191	0.038139	0.0711	0.0115	5008	,	,		17910	0.0258		0.0199	False		,,,				2504	0.044				p.H376H		Atlas-SNP	.											.	DSCAML1	286	.	0			c.T1128C						PASS	.	A		219,4183	128.2+/-165.1	2,215,1984	26	27	27		1128	-5.8	0.9	11	dbSNP_126	27	206,8386	84.8+/-147.2	1,204,4091	no	coding-synonymous	DSCAML1	NM_020693.2		3,419,6075	GG,GA,AA		2.3976,4.975,3.2707		376/2114	117392110	425,12569	2201	4296	6497	SO:0001819	synonymous_variant	57453	exon6			GGTCACATGAAGG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1128T>C	11.37:g.117392110A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	80	28	0.35	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																			A|0.969;G|0.031	0.031	strong		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		G	117392110	A	G	117392110	2	3	22	1	0	0	0	0	0	0	0	1	4769	214	8	2		2	DSCAML1	11	117392110	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	62513	117392110	17614406	6449	11557										
IL10RA	3587	hgsc.bcm.edu	37	chr11	117870257	117870257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctttgcccatgaccttgcCcctctaggctgtgtggcagc	11	14	1	1	rs146193205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117870257C>T	ENST00000227752.3	+	7	1758	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A	IL10RA_ENST00000545409.1_Silent_p.A397A|IL10RA_ENST00000541785.1_Silent_p.A526A|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	546					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTGCCCCTCTAGGCT	0.592													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19108	0.0		0.0	False		,,,				2504	0.0				p.A546A		Atlas-SNP	.											.	IL10RA	46	.	0			c.C1638T						PASS	.	C		6,4394	11.4+/-27.6	0,6,2194	51	48	49		1638	-0.1	0	11	dbSNP_134	49	0,8592		0,0,4296	no	coding-synonymous	IL10RA	NM_001558.3		0,6,6490	TT,TC,CC		0.0,0.1364,0.0462		546/579	117870257	6,12986	2200	4296	6496	SO:0001819	synonymous_variant	3587	exon7			CCTTGCCCCTCTA	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1638C>T	11.37:g.117870257C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	53	30	0.566038	NM_001558	A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	CCDS8388.1																																																																																			C|0.999;T|0.001	0.001	strong		0.592	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117870257	C	T	117870257	2	4	22	1	0	0	0	0	0	0	0	1	7620	610	22	2		2	IL10RA	11	117870257	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	478147	117870257	17136259	6450	11558										
TMPRSS4	56649	hgsc.bcm.edu	37	chr11	117978578	117978578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccaggagcttcgcatgcGgaactcaagtgggtaagtga	14	9	1	1	rs1894176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117978578G>A	ENST00000437212.3	+	6	744	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.R172Q|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.R175Q|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.R137Q|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.R30Q			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	177	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		R -> Q (in dbSNP:rs1894176).		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTTCGCATGCGGAACTCAAGT	0.547													G|||	204	0.0407348	0.1415	0.0216	5008	,	,		19296	0.0		0.002	False		,,,				2504	0.0				p.R177Q		Atlas-SNP	.											TMPRSS4,NS,carcinoma,-1,1	TMPRSS4	46	1	0			c.G530A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	452,3948	216.1+/-234.9	26,400,1774	67	60	62		515,524,410,530	-7.9	0	11	dbSNP_92	62	13,8579	9.1+/-34.3	0,13,4283	yes	missense,missense,missense,missense	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	43,43,43,43	26,413,6057	AA,AG,GG		0.1513,10.2727,3.5791	benign,benign,benign,benign	172/433,175/436,137/398,177/438	117978578	465,12527	2200	4296	6496	SO:0001583	missense	56649	exon6			GCATGCGGAACTC	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.530G>A	11.37:g.117978578G>A	ENSP00000416037:p.Arg177Gln	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	51	35	0.686275	NM_019894	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	84	0.038461538461538464	78	0.15853658536585366	6	0.016574585635359115	0	0.0	0	0.0	G	2.686	-0.274296	0.05679	0.102727	0.001513	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;D;T;T;T;T	0.88201	0.21;-2.35;0.21;0.21;0.21;0.21	5.31	-7.95	0.01148	Speract/scavenger receptor-related (2);	1.636540	0.03489	N	0.216335	T	0.00384	0.0012	N	0.00642	-1.3	0.80722	P	0.0	B;B;B;B;B	0.15719	0.014;0.014;0.008;0.005;0.005	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001	T	0.33752	-0.9856	9	0.13108	T	0.6	.	4.6674	0.12673	0.2857:0.1209:0.4751:0.1183	rs1894176;rs1894176	152;137;30;177;175	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	Q	175;30;137;177;172;124	ENSP00000435184:R175Q;ENSP00000428814:R30Q;ENSP00000429209:R137Q;ENSP00000416037:R177Q;ENSP00000430547:R172Q;ENSP00000428407:R124Q	ENSP00000416037:R177Q	R	+	2	0	TMPRSS4	117483788	0.000000	0.05858	0.033000	0.17914	0.003000	0.03518	-1.134000	0.03228	-1.008000	0.03404	-1.105000	0.02106	CGG	G|0.955;A|0.045	0.045	strong		0.547	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117978578	G	A	117978578	3	1	22	1	0	0	0	0	1	0	0	0	16246	1116	39	1	552	1	TMPRSS4	11	117978578	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108321	117978578	17027938	6451	11559										
TMPRSS4	56649	hgsc.bcm.edu	37	chr11	117982464	117982464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgtgtccagcctgtgggAagagcctgaagaccccccgt	13	14	0	3	rs12270001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:117982464A>G	ENST00000437212.3	+	8	806	c.592A>G	c.(592-594)Aag>Gag	p.K198E	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.K193E|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.K196E|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.K158E|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.K51E			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	198	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		K -> E (in dbSNP:rs12270001).		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		AGCCTGTGGGAAGAGCCTGAA	0.602													G|||	605	0.120807	0.2746	0.036	5008	,	,		17485	0.1558		0.008	False		,,,				2504	0.0532				p.K198E		Atlas-SNP	.											.	TMPRSS4	46	.	0			c.A592G						PASS	.	G	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	925,3475	726.9+/-409.8	104,717,1379	63	53	57		577,586,472,592	-2.7	0.1	11	dbSNP_120	57	59,8533	815.5+/-407.0	0,59,4237	yes	missense,missense,missense,missense	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	56,56,56,56	104,776,5616	GG,GA,AA		0.6867,21.0227,7.5739	benign,benign,benign,benign	193/433,196/436,158/398,198/438	117982464	984,12008	2200	4296	6496	SO:0001583	missense	56649	exon8			TGTGGGAAGAGCC	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.592A>G	11.37:g.117982464A>G	ENSP00000416037:p.Lys198Glu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	52	31	0.596154	NM_019894	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	242	0.1108058608058608	139	0.28252032520325204	12	0.03314917127071823	85	0.1486013986013986	6	0.0079155672823219	G	0.022	-1.413570	0.01145	0.210227	0.006867	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	4.89	-2.73	0.05950	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	1.150470	0.06415	N	0.721296	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.08269	-1.0730	9	0.02654	T	1	.	6.512	0.22226	0.4509:0.3501:0.199:0.0	rs12270001;rs60127784;rs12270001	173;158;51;198;196	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	E	196;51;158;198;193;145	ENSP00000435184:K196E;ENSP00000428814:K51E;ENSP00000429209:K158E;ENSP00000416037:K198E;ENSP00000430547:K193E;ENSP00000428407:K145E	ENSP00000416037:K198E	K	+	1	0	TMPRSS4	117487674	0.000000	0.05858	0.117000	0.21633	0.507000	0.33981	-0.196000	0.09532	-0.937000	0.03719	-0.912000	0.02778	AAG	A|0.911;G|0.089	0.089	strong		0.602	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		G	117982464	A	G	117982464	3	3	22	1	0	0	0	0	1	0	0	0	16246	247	9	2	622	2	TMPRSS4	11	117982464	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3886	117982464	17024052	6452	11560										
MPZL3	196264	hgsc.bcm.edu	37	chr11	118100634	118100634	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtctcttcatagtctgaaTcctggagggagcaaaacagc	10	9	3	1	rs7105729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118100634T>A	ENST00000278949.4	-	6	738	c.683A>T	c.(682-684)gAt>gTt	p.D228V	MPZL3_ENST00000525386.1_Splice_Site_p.I47F|MPZL3_ENST00000527472.1_Splice_Site_p.D216V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	228			D -> V (in dbSNP:rs7105729).		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATAGTCTGAATCCTGGAGGGA	0.453													T|||	223	0.0445288	0.1528	0.0274	5008	,	,		19501	0.0		0.002	False		,,,				2504	0.0				p.D228V		Atlas-SNP	.											.	MPZL3	22	.	0			c.A683T						PASS	.	T	VAL/ASP	613,3787	268.6+/-268.5	54,505,1641	101	93	96		683	5.8	1	11	dbSNP_116	96	7,8585	6.4+/-24.3	0,7,4289	yes	missense-near-splice	MPZL3	NM_198275.1	152	54,512,5930	AA,AT,TT		0.0815,13.9318,4.7722	benign	228/236	118100634	620,12372	2200	4296	6496	SO:0001630	splice_region_variant	196264	exon6			TCTGAATCCTGGA	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.682-1A>T	11.37:g.118100634T>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	49	0.662162	NM_198275	A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	CCDS8392.1	92|92	0.04212454212454213|0.04212454212454213	81|81	0.16463414634146342|0.16463414634146342	11|11	0.03038674033149171|0.03038674033149171	0|0	0.0|0.0	0|0	0.0|0.0	T|T	19.48|19.48	3.834812|3.834812	0.71373|0.71373	0.139318|0.139318	8.15E-4|8.15E-4	ENSG00000160588|ENSG00000160588	ENST00000278949;ENST00000527472|ENST00000525386	D;D|.	0.96651|.	-3.93;-4.08|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.00271|0.00271	0.0008|0.0008	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	P|P	0.9999999999999915|0.9999999999999915	P;P|.	0.47191|.	0.693;0.891|.	P;P|.	0.45681|.	0.49;0.49|.	T|T	0.11792|0.11792	-1.0573|-1.0573	9|5	0.87932|0.41790	D|T	0|0.15	.|.	12.5017|12.5017	0.55960|0.55960	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs7105729;rs52792812;rs7105729|rs7105729;rs52792812;rs7105729	216;228|.	B4E2I8;Q6UWV2|.	.;MPZL3_HUMAN|.	V|F	228;216|47	ENSP00000278949:D228V;ENSP00000432106:D216V|.	ENSP00000278949:D228V|ENSP00000434636:I47F	D|I	-|-	2|1	0|0	MPZL3|MPZL3	117605844|117605844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	4.093000|4.093000	0.57714|0.57714	2.215000|2.215000	0.71742|0.71742	0.460000|0.460000	0.39030|0.39030	GAT|ATT	T|0.954;A|0.046	0.046	strong		0.453	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275	Missense_Mutation	A	118100634	T	A	118100634	5	1	22	1	0	0	0	0	0	0	1	0	9751	1449	50	5	28	5	MPZL3	11	118100634	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	118170	118100634	16905882	6453	11561										
MPZL2	10205	hgsc.bcm.edu	37	chr11	118133334	118133334	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaaccgcccactcatgggTtggaagggatctatgtggta	12	8	2	0	rs17122002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118133334T>C	ENST00000278937.2	-	3	383	c.255A>G	c.(253-255)caA>caG	p.Q85Q	MPZL2_ENST00000438295.2_Silent_p.Q85Q|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	85	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CACTCATGGGTTGGAAGGGAT	0.537													T|||	205	0.0409345	0.1467	0.013	5008	,	,		20403	0.0		0.002	False		,,,				2504	0.0				p.Q85Q		Atlas-SNP	.											.	MPZL2	20	.	0			c.A255G						PASS	.	T	,	655,3745	280.8+/-275.6	62,531,1607	62	57	59		255,255	-6.6	0	11	dbSNP_123	59	5,8587	4.3+/-15.6	0,5,4291	no	coding-synonymous,coding-synonymous	MPZL2	NM_005797.3,NM_144765.2	,	62,536,5898	CC,CT,TT		0.0582,14.8864,5.08	,	85/216,85/216	118133334	660,12332	2200	4296	6496	SO:0001819	synonymous_variant	10205	exon3			CATGGGTTGGAAG	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.255A>G	11.37:g.118133334T>C		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	120	70	0.583333	NM_005797	A8K2R1	Silent	SNP	ENST00000278937.2	37	CCDS8393.1																																																																																			T|0.954;C|0.046	0.046	strong		0.537	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		C	118133334	T	C	118133334	2	2	22	1	0	0	0	0	0	0	0	1	9750	1722	60	2		2	MPZL2	11	118133334	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32700	118133334	16873182	6454	11562										
CD3G	917	hgsc.bcm.edu	37	chr11	118221349	118221349	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagcattttcgtccttgcTgttggggtctacttcattgc					rs71469175|rs3753059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118221349T>C	ENST00000532917.1	+	4	458	c.390T>C	c.(388-390)gcT>gcC	p.A130A	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	130					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCGTCCTTGCTGTTGGGGTCT	0.478													T|||	1484	0.296326	0.1611	0.1095	5008	,	,		19810	0.5119		0.1789	False		,,,				2504	0.5102				p.A130A		Atlas-SNP	.											.	CD3G	31	.	0			c.T390C						PASS	.	T		12,4388		5,2,2193	193	167	176		390	2.2	1	11	dbSNP_107	176	21,8571		6,9,4281	no	coding-synonymous	CD3G	NM_000073.2		11,11,6474	CC,CT,TT		0.2444,0.2727,0.254		130/183	118221349	33,12959	2200	4296	6496	SO:0001819	synonymous_variant	917	exon4			CCTTGCTGTTGGG	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.390T>C	11.37:g.118221349T>C		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	197	104	0.527919	NM_000073	Q2HIZ6	Silent	SNP	ENST00000532917.1	37	CCDS8395.1																																																																																			CT|0.500;TG|0.500	.	alt		0.478	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		C	118221349	T	C	118221349	2	2	22	1	0	0	0	0	0	0	0	1	3013	1567	55	3		3	CD3G	11	118221349	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	88015	118221349	16785167	6455	11563	239	2								
CD3G	917	hgsc.bcm.edu	37	chr11	118221350	118221350	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcattttcgtccttgctGttggggtctacttcattgct					rs71469175|rs3753058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118221350G>T	ENST00000532917.1	+	4	459	c.391G>T	c.(391-393)Gtt>Ttt	p.V131F	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	131			V -> F (in dbSNP:rs3753058).		cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CGTCCTTGCTGTTGGGGTCTA	0.473													G|||	1490	0.297524	0.1611	0.1124	5008	,	,		19740	0.5119		0.1789	False		,,,				2504	0.5143				p.V131F		Atlas-SNP	.											.	CD3G	31	.	0			c.G391T						PASS	.	G	PHE/VAL	19,4381		7,5,2188	193	167	176		391	1.6	1	11	dbSNP_107	176	38,8554		10,18,4268	yes	missense	CD3G	NM_000073.2	50	17,23,6456	TT,TG,GG		0.4423,0.4318,0.4387	probably-damaging	131/183	118221350	57,12935	2200	4296	6496	SO:0001583	missense	917	exon4			CTTGCTGTTGGGG	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.391G>T	11.37:g.118221350G>T	ENSP00000431445:p.Val131Phe	Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	195	102	0.523077	NM_000073	Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	CCDS8395.1	451	0.2065018315018315	49	0.09959349593495935	41	0.1132596685082873	256	0.44755244755244755	105	0.13852242744063326	G	20.7	4.042038	0.75732	0.004318	0.004423	ENSG00000160654	ENST00000532917	T	0.63255	-0.03	5.76	1.63	0.23807	.	0.332375	0.31495	N	0.007550	T	0.00012	0.0000	M	0.72894	2.215	0.09310	P	0.999999999950223	D	0.59767	0.986	P	0.51415	0.669	T	0.39603	-0.9606	9	0.49607	T	0.09	.	9.2037	0.37275	0.0784:0.4192:0.5024:0.0	rs3753058	131	P09693	CD3G_HUMAN	F	131	ENSP00000431445:V131F	ENSP00000431445:V131F	V	+	1	0	CD3G	117726560	0.999000	0.42202	0.994000	0.49952	0.986000	0.74619	0.322000	0.19576	0.046000	0.15833	0.655000	0.94253	GTT	G|0.828;T|0.172	0.172	strong		0.473	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		T	118221350	G	T	118221350	3	4	22	1	0	0	0	0	1	0	0	0	3013	1377	48	4	405	4	CD3G	11	118221350	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	118221350	16785166	6456	11564	239	2								
MLL	4297	hgsc.bcm.edu	37	chr11	118373861	118373861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacagatcatccattatcaaCgaacatatgggatctagttc	6	9	3	1	rs2071702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118373861C>T	ENST00000389506.5	+	27	7245	c.7245C>T	c.(7243-7245)aaC>aaT	p.N2415N	KMT2A_ENST00000354520.4_Silent_p.N2377N|KMT2A_ENST00000534358.1_Silent_p.N2418N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2415					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCATTATCAACGAACATATGG	0.378													T|||	334	0.0666933	0.115	0.0476	5008	,	,		22088	0.0258		0.0626	False		,,,				2504	0.0613				p.N2418N		Atlas-SNP	.											.	MLL	548	.	0			c.C7254T						PASS	.	T	,	505,3895	766.1+/-413.4	32,441,1727	63	61	61		7254,7245	-4.9	0	11	dbSNP_96	61	526,8066	793.8+/-407.5	21,484,3791	no	coding-synonymous,coding-synonymous	MLL	NM_001197104.1,NM_005933.3	,	53,925,5518	TT,TC,CC		6.122,11.4773,7.9357	,	2418/3973,2415/3970	118373861	1031,11961	2200	4296	6496	SO:0001819	synonymous_variant	4297	exon27			TATCAACGAACAT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7245C>T	11.37:g.118373861C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	40	22	0.55	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																			C|0.930;T|0.070	0.070	strong		0.378	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118373861	C	T	118373861	2	4	22	1	0	0	0	0	0	0	0	1	9620	535	19	1		1	MLL	11	118373861	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152511	118373861	16632655	6457	11565										
CXCR5	643	hgsc.bcm.edu	37	chr11	118764382	118764382	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgccctgccacagagggGcccctcatggcctccttcaa	9	18	3	1	rs2230319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118764382G>T	ENST00000292174.4	+	2	305	c.129G>T	c.(127-129)ggG>ggT	p.G43G		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	43					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCACAGAGGGGCCCCTCATGG	0.597													G|||	275	0.0549121	0.202	0.0101	5008	,	,		17609	0.0		0.001	False		,,,				2504	0.0				p.G43G		Atlas-SNP	.											.	CXCR5	34	.	0			c.G129T						PASS	.	G	,	589,3811	259.8+/-263.3	34,521,1645	87	83	85		129,	-1.9	0.9	11	dbSNP_98	85	8,8582	5.7+/-21.5	0,8,4287	no	coding-synonymous,utr-5	CXCR5	NM_001716.4,NM_032966.2	,	34,529,5932	TT,TG,GG		0.0931,13.3864,4.5958	,	43/373,	118764382	597,12393	2200	4295	6495	SO:0001819	synonymous_variant	643	exon2			AGAGGGGCCCCTC	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.129G>T	11.37:g.118764382G>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	114	67	0.587719	NM_001716	Q14811	Silent	SNP	ENST00000292174.4	37	CCDS8402.1																																																																																			G|0.952;T|0.048	0.048	strong		0.597	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		T	118764382	G	T	118764382	2	4	22	1	0	0	0	0	0	0	0	1	4094	1190	42	4		4	CXCR5	11	118764382	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	390521	118764382	16242134	6458	11566										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118770054	118770054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccccctgtcccctgtgcGttgggatgcagtggaatgtt	14	12	0	0	rs12277303	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118770054G>A	ENST00000334801.3	-	8	4534	c.3570C>T	c.(3568-3570)aaC>aaT	p.N1190N	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1190	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCCCTGTGCGTTGGGATGCA	0.692													G|||	262	0.0523163	0.1921	0.0101	5008	,	,		11201	0.0		0.001	False		,,,				2504	0.0				p.N1190N		Atlas-SNP	.											.	BCL9L	254	.	0			c.C3570T						PASS	.	G		401,3799		5,391,1704	5	6	6		3570	-0.1	0.9	11	dbSNP_120	6	6,8276		0,6,4135	no	coding-synonymous	BCL9L	NM_182557.2		5,397,5839	AA,AG,GG		0.0724,9.5476,3.2607		1190/1500	118770054	407,12075	2100	4141	6241	SO:0001819	synonymous_variant	283149	exon8			CTGTGCGTTGGGA	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3570C>T	11.37:g.118770054G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	95	55	0.578947	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																			G|0.948;A|0.052	0.052	strong		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118770054	G	A	118770054	2	1	22	1	0	0	0	0	0	0	0	1	1382	1136	40	1		1	BCL9L	11	118770054	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5672	118770054	16236462	6459	11567										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118773204	118773204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagcagcagtcgctcaatGtctcgcagcgtctggaggga	15	11	3	0	rs7119065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118773204G>A	ENST00000334801.3	-	6	2212	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	416	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTCGCTCAATGTCTCGCAGCG	0.682													G|||	294	0.0587061	0.2156	0.0101	5008	,	,		12409	0.0		0.002	False		,,,				2504	0.0				p.D416D		Atlas-SNP	.											BCL9L_ENST00000392849,right_upper_lobe,carcinoma,-1,2	BCL9L	254	2	0			c.C1248T						PASS	.	G		615,3783		41,533,1625	27	30	29		1248	3.6	1	11	dbSNP_116	29	11,8575		0,11,4282	no	coding-synonymous	BCL9L	NM_182557.2		41,544,5907	AA,AG,GG		0.1281,13.9836,4.8213		416/1500	118773204	626,12358	2199	4293	6492	SO:0001819	synonymous_variant	283149	exon6			CTCAATGTCTCGC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1248C>T	11.37:g.118773204G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	30	19	0.633333	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																			G|0.949;A|0.051	0.051	strong		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118773204	G	A	118773204	2	1	22	1	0	0	0	0	0	0	0	1	1382	1368	48	2		2	BCL9L	11	118773204	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3150	118773204	16233312	6460	11568										
UPK2	7379	hgsc.bcm.edu	37	chr11	118827655	118827655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taacggagagcctgctggttGccttgcccccctgtcacctc	10	16	1	1	rs3886020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118827655G>T	ENST00000264031.2	+	2	174	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	47			A -> S (in dbSNP:rs3886020).		epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTGCTGGTTGCCTTGCCCCC	0.597											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	215	0.0429313	0.1581	0.0072	5008	,	,		19091	0.0		0.001	False		,,,				2504	0.0				p.A47S		Atlas-SNP	.											.	UPK2	12	.	0			c.G139T						PASS	.	G	SER/ALA	507,3893	234.9+/-247.6	33,441,1726	103	88	93		139	4.6	1	11	dbSNP_108	93	7,8583	4.3+/-15.6	0,7,4288	yes	missense	UPK2	NM_006760.3	99	33,448,6014	TT,TG,GG		0.0815,11.5227,3.9569	probably-damaging	47/185	118827655	514,12476	2200	4295	6495	SO:0001583	missense	7379	exon2			CTGGTTGCCTTGC	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"uroplakin II", "uroplakin-2"	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.139G>T	11.37:g.118827655G>T	ENSP00000264031:p.Ala47Ser	Somatic	82	0	0	1491	WXS	Illumina HiSeq	Phase_I	95	57	0.6	NM_006760	B0YJ92|O00457|Q53YV0	Missense_Mutation	SNP	ENST00000264031.2	37	CCDS8404.1	81	0.03708791208791209	79	0.16056910569105692	2	0.0055248618784530384	0	0.0	0	0.0	G	19.30	3.800203	0.70567	0.115227	8.15E-4	ENSG00000110375	ENST00000264031	T	0.38887	1.11	5.5	4.56	0.56223	.	0.129460	0.35235	N	0.003349	T	0.00241	0.0007	L	0.53249	1.67	0.29043	N	0.884952	P	0.51240	0.943	P	0.52066	0.689	T	0.00071	-1.2131	10	0.36615	T	0.2	-9.9761	12.1032	0.53796	0.0:0.1729:0.8271:0.0	rs3886020	47	O00526	UPK2_HUMAN	S	47	ENSP00000264031:A47S	ENSP00000264031:A47S	A	+	1	0	UPK2	118332865	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	3.281000	0.51685	1.258000	0.44101	0.655000	0.94253	GCC	A|0.000;C|0.008	.	strong		0.597	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	NM_006760		T	118827655	G	T	118827655	3	4	22	1	0	0	0	0	1	0	0	0	17006	1319	46	4	145	4	UPK2	11	118827655	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54451	118827655	16178861	6461	11569										
CCDC84	338657	hgsc.bcm.edu	37	chr11	118886117	118886117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgccctcttttggccgCgtctggaataatggacgccg	13	12	2	0	rs10111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118886117C>T	ENST00000334418.1	+	10	962	c.906C>T	c.(904-906)cgC>cgT	p.R302R	RPS25_ENST00000528547.1_5'Flank	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	302										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTTTTGGCCGCGTCTGGAATA	0.547													C|||	1261	0.251797	0.3517	0.2334	5008	,	,		15190	0.0685		0.2286	False		,,,				2504	0.3425				p.R302R		Atlas-SNP	.											.	CCDC84	21	.	0			c.C906T						PASS	.	C		1486,2914	454.5+/-350.7	253,980,967	39	41	40		906	-9.9	0.7	11	dbSNP_52	40	1934,6654	321.7+/-315.2	221,1492,2581	no	coding-synonymous	CCDC84	NM_198489.1		474,2472,3548	TT,TC,CC		22.5198,33.7727,26.332		302/333	118886117	3420,9568	2200	4294	6494	SO:0001819	synonymous_variant	338657	exon10			TGGCCGCGTCTGG	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.906C>T	11.37:g.118886117C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	128	55	0.429688	NM_198489		Silent	SNP	ENST00000334418.1	37	CCDS8405.1																																																																																			C|0.763;T|0.237	0.237	strong		0.547	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		T	118886117	C	T	118886117	2	4	22	1	0	0	0	0	0	0	0	1	2858	755	27	1		1	CCDC84	11	118886117	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58462	118886117	16120399	6462	11570										
SLC37A4	51399	hgsc.bcm.edu	37	chr11	118895686	118895686	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtaggaggaagaaggcagcCgtgctggccgcacaaatcac	14	11	1	1	rs8192696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118895686C>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000545985.1_Silent_p.T408T|SLC37A4_ENST00000330775.7_Silent_p.T429T|SLC37A4_ENST00000357590.5_Silent_p.T430T|SLC37A4_ENST00000538950.1_Silent_p.T335T|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.P234L	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AGAAGGCAGCCGTGCTGGCCG	0.592													T|||	1241	0.247804	0.3638	0.2161	5008	,	,		19263	0.0823		0.2157	False		,,,				2504	0.317				p.T430T		Atlas-SNP	.											.	SLC37A4	19	.	0			c.G1290A						PASS	.	T	,,,,	1363,2679		231,901,889	47	54	51		1225,1291,1006,1225,1225	-0.1	0.9	11	dbSNP_117	51	1809,6553		200,1409,2572	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC37A4	NM_001164277.1,NM_001164278.1,NM_001164279.1,NM_001164280.1,NM_001467.5	,,,,	431,2310,3461	TT,TC,CC		21.6336,33.7209,25.5724	,,,,	408/430,430/452,335/357,408/430,408/430	118895686	3172,9232	2021	4181	6202	SO:0001628	intergenic_variant	2542	exon12			GGCAGCCGTGCTG	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895686C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	105	44	0.419048	NM_001164278	A8K3A5|B4DME1	Silent	SNP	ENST00000533632.1	37	CCDS8407.1	455	0.20833333333333334	179	0.3638211382113821	83	0.2292817679558011	36	0.06293706293706294	157	0.20712401055408972	T	10.78	1.446975	0.25987	0.337209	0.216336	ENSG00000196655	ENST00000533058	T	0.51071	0.72	5.27	-0.0512	0.13827	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.48185	P	3.9999999999995595E-4	.	.	.	.	.	.	T	0.35871	-0.9771	5	0.87932	D	0	-10.0	9.1911	0.37200	0.0:0.1376:0.3931:0.4693	rs8192696;rs17849572;rs17849775;rs57728725;rs8192696	.	.	.	L	234	ENSP00000432920:P234L	ENSP00000432920:P234L	P	+	2	0	TRAPPC4	118400896	0.000000	0.05858	0.928000	0.36995	0.888000	0.51559	-1.146000	0.03191	-0.115000	0.11915	-1.466000	0.01016	CCG	C|0.768;T|0.232	0.232	strong		0.592	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		T	118895686	C	T	118895686	1	4	22	0	1	0	0	0	0	0	0	0	14600	639	23	1		1	SLC37A4	11	118895686	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9569	118895686	16110830	6463	11571										
DPAGT1	1798	hgsc.bcm.edu	37	chr11	118967758	118967758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatcgaatggagaaggtgaTggcactgcccaggatctgca	13	8	1	2	rs643788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:118967758T>C	ENST00000409993.2	-	11	2728	c.1177A>G	c.(1177-1179)Atc>Gtc	p.I393V	DPAGT1_ENST00000432443.2_Missense_Mutation_p.I312V|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.I393V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	393			I -> V (in dbSNP:rs643788). {ECO:0000269|PubMed:15489334}.		cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGAAGGTGATGGCACTGCCC	0.488													T|||	2170	0.433307	0.2844	0.2983	5008	,	,		23742	0.631		0.4563	False		,,,				2504	0.5031				p.I393V		Atlas-SNP	.											.	DPAGT1	43	.	0			c.A1177G						PASS	.	T	VAL/ILE	1307,3093	441.0+/-346.2	199,909,1092	146	131	136		1177	-4.2	0	11	dbSNP_83	136	3723,4867	530.4+/-381.8	811,2101,1383	yes	missense	DPAGT1	NM_001382.3	29	1010,3010,2475	CC,CT,TT		43.3411,29.7045,38.7221	benign	393/409	118967758	5030,7960	2200	4295	6495	SO:0001583	missense	1798	exon9			AGGTGATGGCACT	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1177A>G	11.37:g.118967758T>C	ENSP00000386597:p.Ile393Val	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	144	59	0.409722	NM_001382	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	938	0.42948717948717946	120	0.24390243902439024	127	0.35082872928176795	357	0.6241258741258742	334	0.44063324538258575	T	0.012	-1.647350	0.00792	0.297045	0.433411	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91068	-2.78;-2.78;-2.63	5.38	-4.23	0.03789	.	0.950055	0.08878	N	0.880464	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36016	-0.9765	9	0.12766	T	0.61	-29.2396	2.1096	0.03699	0.2219:0.1524:0.1217:0.504	rs643788;rs3186349;rs17259019;rs17854515;rs58852432;rs643788	312;393	E7EW40;Q9H3H5	.;GPT_HUMAN	V	393;393;312	ENSP00000386597:I393V;ENSP00000346142:I393V;ENSP00000404036:I312V	ENSP00000346142:I393V	I	-	1	0	DPAGT1	118472968	0.000000	0.05858	0.037000	0.18230	0.231000	0.25187	-0.320000	0.08028	-0.993000	0.03467	-3.207000	0.00054	ATC	A|0.003;C|0.413	0.413	strong		0.488	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		C	118967758	T	C	118967758	3	2	22	1	0	0	0	0	1	0	0	0	4710	1464	51	2	53	2	DPAGT1	11	118967758	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	72072	118967758	16038758	6464	11572										
ABCG4	64137	hgsc.bcm.edu	37	chr11	119027691	119027691	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagcagccctgagaagaaCgaggtccctgccccatgccc	11	15	0	3	rs12271907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119027691C>G	ENST00000449422.2	+	9	1223	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	ABCG4_ENST00000531739.1_Missense_Mutation_p.N345K|ABCG4_ENST00000307417.3_Missense_Mutation_p.N345K|AP002956.1_ENST00000599663.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	345					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGAGAAGAACGAGGTCCCTG	0.607													C|||	379	0.0756789	0.2685	0.0331	5008	,	,		22013	0.0		0.001	False		,,,				2504	0.0				p.N345K		Atlas-SNP	.											.	ABCG4	77	.	0			c.C1035G						PASS	.	C	LYS/ASN,LYS/ASN	977,3423	367.3+/-318.2	117,743,1340	169	155	159		1035,1035	-11.3	0	11	dbSNP_120	159	7,8583	4.3+/-15.6	0,7,4288	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	94,94	117,750,5628	GG,GC,CC		0.0815,22.2045,7.5751	benign,benign	345/647,345/647	119027691	984,12006	2200	4295	6495	SO:0001583	missense	64137	exon9			GAAGAACGAGGTC	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1035C>G	11.37:g.119027691C>G	ENSP00000406874:p.Asn345Lys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	49	29	0.591837	NM_022169	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	162	0.07417582417582418	154	0.3130081300813008	8	0.022099447513812154	0	0.0	0	0.0	C	9.694	1.152791	0.21371	0.222045	8.15E-4	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	D;D;D;T	0.86562	-2.14;-2.14;-2.14;0.92	5.65	-11.3	0.00108	.	0.718923	0.14549	N	0.312774	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.22604	0.072	B	0.20577	0.03	T	0.08493	-1.0719	9	0.06365	T	0.9	-5.4059	11.0626	0.47957	0.0:0.2915:0.2915:0.4171	rs12271907;rs12271907	345	Q9H172	ABCG4_HUMAN	K	345;345;345;23	ENSP00000304111:N345K;ENSP00000406874:N345K;ENSP00000434318:N345K;ENSP00000434571:N23K	ENSP00000304111:N345K	N	+	3	2	ABCG4	118532901	0.002000	0.14202	0.001000	0.08648	0.350000	0.29205	-2.018000	0.01444	-3.564000	0.00140	-1.778000	0.00651	AAC	C|0.928;G|0.072;T|0.000	0.072	strong		0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		G	119027691	C	G	119027691	3	3	22	1	0	0	0	0	1	0	0	0	70	535	19	4	1065	4	ABCG4	11	119027691	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59933	119027691	15978825	6465	11573										
NLRX1	79671	hgsc.bcm.edu	37	chr11	119043656	119043656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtagatagcgctcccccaCccgggaggcatggacggctg	15	14	0	1	rs643423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119043656C>T	ENST00000409109.1	+	4	774	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	NLRX1_ENST00000292199.2_Missense_Mutation_p.P63S|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P63S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P63S|NLRX1_ENST00000525863.1_Missense_Mutation_p.P63S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	63			P -> S (in dbSNP:rs643423). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039}.		innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGCTCCCCCACCCGGGAGGCA	0.632													T|||	3417	0.682308	0.6936	0.402	5008	,	,		16229	0.8829		0.5497	False		,,,				2504	0.7955				p.P63S		Atlas-SNP	.											.	NLRX1	128	.	0			c.C187T						PASS	.	T	SER/PRO,SER/PRO	2863,1537	486.0+/-360.5	927,1009,264	72	71	72		187,187	-4.8	0	11	dbSNP_83	72	4487,4103	563.2+/-388.1	1169,2149,977	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	74,74	2096,3158,1241	TT,TC,CC		47.7648,34.9318,43.418	benign,benign	63/976,63/922	119043656	7350,5640	2200	4295	6495	SO:0001583	missense	79671	exon4			CCCCCACCCGGGA	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.187C>T	11.37:g.119043656C>T	ENSP00000387334:p.Pro63Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	60	28	0.466667	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	1387	0.63507326007326	319	0.6483739837398373	162	0.44751381215469616	496	0.8671328671328671	410	0.5408970976253298	T	0.040	-1.287510	0.01387	0.650682	0.522352	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.69806	1.67;1.67;1.67;-0.3;-0.3;-0.43;-0.3;-0.43	5.4	-4.75	0.03239	.	1.123620	0.06731	N	0.776696	T	0.00012	0.0000	N	0.04880	-0.145	0.80722	P	0.0	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.0	T	0.32161	-0.9917	9	0.06099	T	0.92	.	11.9448	0.52922	0.0:0.6535:0.1091:0.2373	rs643423;rs59337253;rs643423	63;63	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	63	ENSP00000400268:P63S;ENSP00000402801:P63S;ENSP00000402381:P63S;ENSP00000386851:P63S;ENSP00000292199:P63S;ENSP00000386858:P63S;ENSP00000387334:P63S;ENSP00000433442:P63S	ENSP00000292199:P63S	P	+	1	0	NLRX1	118548866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.208000	0.01229	-1.172000	0.02762	-1.177000	0.01723	CCC	C|0.405;T|0.595	0.595	strong		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119043656	C	T	119043656	3	4	22	1	0	0	0	0	1	0	0	0	10485	507	18	2	197	2	NLRX1	11	119043656	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15965	119043656	15962860	6466	11574										
NLRX1	79671	hgsc.bcm.edu	37	chr11	119052826	119052826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccaacaacccgctgacggCggcaggtgttgccgtgctaa	13	13	0	1	rs4245191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119052826C>A	ENST00000409109.1	+	9	2965	c.2378C>A	c.(2377-2379)gCg>gAg	p.A793E	NLRX1_ENST00000292199.2_Missense_Mutation_p.A793E|NLRX1_ENST00000409991.1_Missense_Mutation_p.A793E|NLRX1_ENST00000409265.4_Missense_Mutation_p.A793E|NLRX1_ENST00000525863.1_Missense_Mutation_p.A793E	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	793	Required for the repression of MAVS- induced interferon signaling.		A -> E (in dbSNP:rs4245191). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGACGGCGGCAGGTGTT	0.632													C|||	3447	0.688299	0.708	0.4179	5008	,	,		18563	0.8839		0.5477	False		,,,				2504	0.7965				p.A793E		Atlas-SNP	.											.	NLRX1	128	.	0			c.C2378A						PASS	.	C	GLU/ALA,GLU/ALA	2971,1429	652.9+/-399.5	1024,923,253	124	118	120		2378,2378	2.9	0	11	dbSNP_111	120	4477,4113	565.2+/-388.4	1172,2133,990	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	107,107	2196,3056,1243	AA,AC,CC		47.8813,32.4773,42.6636	benign,benign	793/976,793/922	119052826	7448,5542	2200	4295	6495	SO:0001583	missense	79671	exon9			TGACGGCGGCAGG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2378C>A	11.37:g.119052826C>A	ENSP00000387334:p.Ala793Glu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	1419	0.6497252747252747	349	0.709349593495935	166	0.4585635359116022	496	0.8671328671328671	408	0.5382585751978892	C	0.006	-2.091840	0.00364	0.675227	0.521187	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.78	2.91	0.33838	.	0.152719	0.40640	N	0.001049	T	0.00012	0.0000	N	0.03115	-0.41	0.54753	P	1.799999999996249E-5	B;B	0.15719	0.014;0.007	B;B	0.17979	0.02;0.006	T	0.40590	-0.9555	9	0.02654	T	1	.	6.5557	0.22460	0.1759:0.6611:0.0:0.163	rs4245191;rs17627663;rs17845376;rs17858230;rs61333211;rs4245191	793;793	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	E	793	ENSP00000386851:A793E;ENSP00000292199:A793E;ENSP00000386858:A793E;ENSP00000387334:A793E;ENSP00000433442:A793E	ENSP00000292199:A793E	A	+	2	0	NLRX1	118558036	0.979000	0.34478	0.018000	0.16275	0.003000	0.03518	2.559000	0.45888	0.628000	0.30357	0.609000	0.83330	GCG	C|0.378;A|0.622	0.622	strong		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119052826	C	A	119052826	3	1	22	1	0	0	0	0	1	0	0	0	10485	768	27	4	2408	4	NLRX1	11	119052826	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9170	119052826	15953690	6467	11575										
PDZD3	79849	hgsc.bcm.edu	37	chr11	119059404	119059404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggctcccgcctcgccccGgggcagcagctcagcctcac	12	19	2	1	rs1815811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119059404G>A	ENST00000531114.1	+	7	1862	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	PDZD3_ENST00000392817.2_Missense_Mutation_p.R438Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R358Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R359Q|PDZD3_ENST00000355547.5_Missense_Mutation_p.R372Q			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	438				R -> Q (in Ref. 2; BAC76050 and 5; AAH29042). {ECO:0000305}.	cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GCCTCGCCCCGGGGCAGCAGC	0.607													A|||	3330	0.664936	0.6014	0.4251	5008	,	,		17325	0.879		0.5716	False		,,,				2504	0.7965				p.R372Q		Atlas-SNP	.											.	PDZD3	42	.	0			c.G1115A						PASS	.	A	GLN/ARG,GLN/ARG	2590,1810	529.0+/-372.6	778,1034,388	58	54	56		1115,1073	-1.8	0	11	dbSNP_92	56	4672,3918	545.1+/-384.7	1256,2160,879	yes	missense,missense	PDZD3	NM_001168468.1,NM_024791.3	43,43	2034,3194,1267	AA,AG,GG		45.6112,41.1364,44.0955	benign,benign	372/506,358/492	119059404	7262,5728	2200	4295	6495	SO:0001583	missense	79849	exon9			CGCCCCGGGGCAG	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1313G>A	11.37:g.119059404G>A	ENSP00000431164:p.Arg438Gln	Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_001168468	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		1384	0.6336996336996337	297	0.6036585365853658	170	0.4696132596685083	493	0.8618881118881119	424	0.5593667546174143	A	3.171	-0.170042	0.06461	0.588636	0.543888	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.73047	1.61;1.58;1.62;-0.71;1.58	5.21	-1.83	0.07833	PDZ/DHR/GLGF (1);	1.300320	0.05375	N	0.536080	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27773	-1.0064	9	0.09338	T	0.73	0.0036	6.3572	0.21408	0.3089:0.3595:0.3317:0.0	rs1815811;rs4127379;rs17545150;rs17845869;rs17858844;rs60088554;rs1815811	359;438;372;358	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	Q	359;438;372;358;372;438	ENSP00000434559:R359Q;ENSP00000431164:R438Q;ENSP00000347742:R372Q;ENSP00000327107:R358Q;ENSP00000376564:R438Q	ENSP00000327107:R358Q	R	+	2	0	PDZD3	118564614	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.042000	0.13949	-0.564000	0.06070	-0.254000	0.11334	CGG	G|0.395;A|0.605	0.605	strong		0.607	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		A	119059404	G	A	119059404	3	1	22	1	0	0	0	0	1	0	0	0	11702	1116	39	1	1149	1	PDZD3	11	119059404	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6578	119059404	15947112	6468	11576										
CCDC153	283152	hgsc.bcm.edu	37	chr11	119063908	119063908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctccagctgcttgctgCgggtttgcatatcctcctgc	9	15	0	0	rs2301574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119063908C>T	ENST00000503566.2	-	4	301	c.302G>A	c.(301-303)cGc>cAc	p.R101H	CCDC153_ENST00000415318.1_Missense_Mutation_p.R101H			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	101			R -> H (in dbSNP:rs2301574). {ECO:0000269|PubMed:15489334}.					p.R15H(1)		lung(3)|stomach(1)	4						CTGCTTGCTGCGGGTTTGCAT	0.622													C|||	1227	0.245008	0.2595	0.2089	5008	,	,		17375	0.3542		0.2455	False		,,,				2504	0.138				p.R101H		Atlas-SNP	.											CCDC153,NS,carcinoma,0,1	CCDC153	19	1	1	Substitution - Missense(1)	stomach(1)	c.G302A						PASS	.	C	HIS/ARG	1146,3252	406.2+/-333.8	149,848,1202	87	82	84		302	-0.1	0	11	dbSNP_100	84	2131,6459	366.6+/-334.4	264,1603,2428	yes	missense	CCDC153	NM_001145018.1	29	413,2451,3630	TT,TC,CC		24.8079,26.0573,25.231	benign	101/211	119063908	3277,9711	2199	4295	6494	SO:0001583	missense	283152	exon5			TTGCTGCGGGTTT		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.302G>A	11.37:g.119063908C>T	ENSP00000423567:p.Arg101His	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_001145018		Missense_Mutation	SNP	ENST00000503566.2	37	CCDS44753.1	635	0.2907509157509158	153	0.31097560975609756	83	0.2292817679558011	210	0.36713286713286714	189	0.24934036939313983	C	2.731	-0.264408	0.05754	0.260573	0.248079	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.29142	1.58;1.58	4.89	-0.122	0.13531	.	0.545048	0.17907	N	0.157983	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.18013	0.025	B	0.11329	0.006	T	0.48514	-0.9029	9	0.23891	T	0.37	-22.631	7.5928	0.28031	0.0:0.4717:0.0:0.5283	rs2301574;rs52800057;rs58197863;rs2301574	101	Q494R4	CC153_HUMAN	H	101	ENSP00000423567:R101H;ENSP00000445431:R101H	ENSP00000445431:R101H	R	-	2	0	CCDC153	118569118	0.000000	0.05858	0.009000	0.14445	0.068000	0.16541	-0.974000	0.03794	0.088000	0.17205	-0.254000	0.11334	CGC	C|0.728;T|0.272	0.272	strong		0.622	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		T	119063908	C	T	119063908	3	4	22	1	0	0	0	0	1	0	0	0	2787	768	27	1	342	1	CCDC153	11	119063908	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4504	119063908	15942608	6469	11577										
CBL	867	hgsc.bcm.edu	37	chr11	119170362	119170362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagtgagatcgagaacctCatgagtcaggggtactccta	11	10	2	3	rs1893177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119170362C>T	ENST00000264033.4	+	16	2968	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	864	Interaction with CD2AP.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCGAGAACCTCATGAGTCAGG	0.537			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				C|||	172	0.034345	0.1203	0.0187	5008	,	,		19424	0.0		0.0	False		,,,				2504	0.0				p.L864L		Atlas-SNP	.		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	CBL	408	.	0			c.C2592T						PASS	.	C		478,3920	224.9+/-240.9	22,434,1743	217	217	217		2592	4.7	1	11	dbSNP_92	217	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	CBL	NM_005188.2		22,435,6037	TT,TC,CC		0.0116,10.8686,3.688		864/907	119170362	479,12509	2199	4295	6494	SO:0001819	synonymous_variant	867	exon16	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	GAACCTCATGAGT	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2592C>T	11.37:g.119170362C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	79	47	0.594937	NM_005188	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																			C|0.948;T|0.052	0.052	strong		0.537	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		T	119170362	C	T	119170362	2	4	22	1	0	0	0	0	0	0	0	1	2700	813	29	2		2	CBL	11	119170362	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106454	119170362	15836154	6470	11578										
CBL	867	hgsc.bcm.edu	37	chr11	119170480	119170480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatttcttctcctgcccatGtagctacctagcacaccatc	4	17	2	0	rs17122769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119170480G>A	ENST00000264033.4	+	16	3086	c.2710G>A	c.(2710-2712)Gta>Ata	p.V904I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	904	Interaction with CD2AP.		V -> I (in dbSNP:rs17122769).		cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCTGCCCATGTAGCTACCTA	0.493			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				G|||	30	0.00599042	0.0219	0.0014	5008	,	,		21109	0.0		0.0	False		,,,				2504	0.0				p.V904I		Atlas-SNP	.		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	CBL	408	.	0			c.G2710A						PASS	.	G	ILE/VAL	65,4333	61.1+/-98.1	0,65,2134	239	244	242		2710	4.9	0.1	11	dbSNP_123	242	2,8588	2.2+/-6.3	0,2,4293	yes	missense	CBL	NM_005188.2	29	0,67,6427	AA,AG,GG		0.0233,1.4779,0.5159	benign	904/907	119170480	67,12921	2199	4295	6494	SO:0001583	missense	867	exon16	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	GCCCATGTAGCTA	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2710G>A	11.37:g.119170480G>A	ENSP00000264033:p.Val904Ile	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_005188	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	G	11.37	1.617349	0.28801	0.014779	2.33E-4	ENSG00000110395	ENST00000264033	T	0.78816	-1.21	5.8	4.89	0.63831	.	0.120265	0.56097	D	0.000027	T	0.49372	0.1553	N	0.03115	-0.41	0.44677	D	0.997661	B	0.12013	0.005	B	0.14023	0.01	T	0.50499	-0.8821	10	0.30854	T	0.27	-23.714	14.7175	0.69280	0.0692:0.0:0.9308:0.0	rs17122769;rs52793379;rs17122769	904	P22681	CBL_HUMAN	I	904	ENSP00000264033:V904I	ENSP00000264033:V904I	V	+	1	0	CBL	118675690	0.997000	0.39634	0.064000	0.19789	0.936000	0.57629	2.667000	0.46808	1.461000	0.47929	0.655000	0.94253	GTA	G|0.993;A|0.007	0.007	strong		0.493	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		A	119170480	G	A	119170480	3	1	22	1	0	0	0	0	1	0	0	0	2700	1377	48	2	2772	2	CBL	11	119170480	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118	119170480	15836036	6471	11579										
MFRP	83552	hgsc.bcm.edu	37	chr11	119216867	119216867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtagccctcgaggacgccGacctgcgggttggcaggtgg	17	13	0	0	rs139436396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119216867G>C	ENST00000530681.1	-	3	304	c.160C>G	c.(160-162)Cgg>Ggg	p.R54G	MFRP_ENST00000555262.1_Missense_Mutation_p.R54G|MFRP_ENST00000449574.2_Missense_Mutation_p.R54G|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.R54G	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	54			R -> G (in dbSNP:rs139436396). {ECO:0000269|PubMed:16352475}.		embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGAGGACGCCGACCTGCGGGT	0.642													G|||	55	0.0109824	0.0371	0.0086	5008	,	,		17805	0.0		0.0	False		,,,				2504	0.0				p.R54G		Atlas-SNP	.											.	MFRP	63	.	0			c.C160G						PASS	.	G	,GLY/ARG	111,4267		2,107,2080	19	18	18		,160	4.3	0.8	11	dbSNP_134	18	1,8565		0,1,4282	yes	utr-5,missense	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,125	2,108,6362	CC,CG,GG		0.0117,2.5354,0.8653	,benign	,54/580	119216867	112,12832	2189	4283	6472	SO:0001583	missense	83552	exon3			GACGCCGACCTGC	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.160C>G	11.37:g.119216867G>C	ENSP00000456533:p.Arg54Gly	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_031433	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	G	17.80	3.477400	0.63849	0.025354	1.17E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.67698	-0.28;-0.28;1.88	5.24	4.27	0.50696	.	0.647065	0.15397	N	0.264485	T	0.29126	0.0724	L	0.27053	0.805	0.24539	N	0.994075	P;B	0.39157	0.662;0.319	B;B	0.37833	0.259;0.097	T	0.26643	-1.0097	10	0.30078	T	0.28	-13.8891	13.6734	0.62438	0.0:0.1544:0.8456:0.0	.	54;54	B4DHN8;Q9BY79	.;MFRP_HUMAN	G	54	ENSP00000450509:R54G;ENSP00000391664:R54G;ENSP00000353291:R54G	ENSP00000353291:R54G	R	-	1	2	MFRP	118722077	0.010000	0.17322	0.842000	0.33263	0.537000	0.34900	0.833000	0.27504	2.601000	0.87937	0.655000	0.94253	CGG	G|0.990;C|0.010	0.010	strong		0.642	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		C	119216867	G	C	119216867	3	2	22	1	0	0	0	0	1	0	0	0	9526	1057	37	4	1623	4	MFRP	11	119216867	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46387	119216867	15789649	6472	11580										
USP2	9099	hgsc.bcm.edu	37	chr11	119243612	119243612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggtagtcgaccaggtaTtcagggcagctggctgtctg	14	10	2	0	rs4938649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119243612T>C	ENST00000260187.2	-	2	873	c.579A>G	c.(577-579)gaA>gaG	p.E193E	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	193	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGACCAGGTATTCAGGGCAGC	0.637													C|||	239	0.0477236	0.1195	0.0274	5008	,	,		17377	0.0407		0.002	False		,,,				2504	0.0194				p.E193E		Atlas-SNP	.											.	USP2	71	.	0			c.A579G						PASS	.	C		503,3895	779.2+/-414.3	28,447,1724	66	69	68		579	1.2	0.9	11	dbSNP_111	68	8,8582	818.2+/-406.9	0,8,4287	no	coding-synonymous	USP2	NM_004205.4		28,455,6011	CC,CT,TT		0.0931,11.437,3.9344		193/606	119243612	511,12477	2199	4295	6494	SO:0001819	synonymous_variant	9099	exon2			CAGGTATTCAGGG	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.579A>G	11.37:g.119243612T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	29	0.630435	NM_004205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																			T|0.959;C|0.041	0.041	strong		0.637	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		C	119243612	T	C	119243612	2	2	22	1	0	0	0	0	0	0	0	1	17048	1490	52	2		2	USP2	11	119243612	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26745	119243612	15762904	6473	11581										
USP2	9099	hgsc.bcm.edu	37	chr11	119243912	119243912	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtaccccgggtctggctCtctgcccgcttaccaccccc	8	20	3	0	rs536224379|rs79464246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119243912C>T	ENST00000260187.2	-	2	573	c.279G>A	c.(277-279)gaG>gaA	p.E93E	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	93	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGGTCTGGCTCTCTGCCCGCT	0.657													C|||	40	0.00798722	0.0265	0.0072	5008	,	,		16244	0.0		0.0	False		,,,				2504	0.0				p.E93E		Atlas-SNP	.											.	USP2	71	.	0			c.G279A						PASS	.	C		107,4291	82.9+/-121.4	2,103,2094	67	76	73		279	4.3	1	11	dbSNP_132	73	1,8589		0,1,4294	no	coding-synonymous	USP2	NM_004205.4		2,104,6388	TT,TC,CC		0.0116,2.4329,0.8315		93/606	119243912	108,12880	2199	4295	6494	SO:0001819	synonymous_variant	9099	exon2			CTGGCTCTCTGCC	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.279G>A	11.37:g.119243912C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	90	50	0.555556	NM_004205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																			C|0.991;T|0.009	0.009	strong		0.657	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		T	119243912	C	T	119243912	2	4	22	1	0	0	0	0	0	0	0	1	17048	912	32	2		2	USP2	11	119243912	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	300	119243912	15762604	6474	11582										
PVRL1	5818	hgsc.bcm.edu	37	chr11	119509485	119509485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgcctgctgggagaagGctccggcttctgggagaggg	18	9	1	2	rs73571271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119509485G>A	ENST00000341398.2	-	7	1182	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	RP11-196E1.3_ENST00000601999.1_RNA|RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CTGGGAGAAGGCTCCGGCTTC	0.617													G|||	94	0.01877	0.0643	0.013	5008	,	,		19246	0.0		0.0	False		,,,				2504	0.0				p.P395S		Atlas-SNP	.											.	PVRL1	133	.	0			c.C1183T						PASS	.	G	SER/PRO	274,4124	154.0+/-187.5	4,266,1929	48	46	46		1183	1.5	0	11	dbSNP_130	46	1,8589	1.2+/-3.3	0,1,4294	yes	missense	PVRL1	NM_203285.1	74	4,267,6223	AA,AG,GG		0.0116,6.2301,2.1173		395/459	119509485	275,12713	2199	4295	6494	SO:0001583	missense	5818	exon7			GAGAAGGCTCCGG	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1183C>T	11.37:g.119509485G>A	ENSP00000344974:p.Pro395Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_203285	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	CCDS8425.1	41	0.018772893772893772	34	0.06910569105691057	7	0.019337016574585635	0	0.0	0	0.0	G	5.225	0.226965	0.09916	0.062301	1.16E-4	ENSG00000110400	ENST00000341398	T	0.77098	-1.07	3.39	1.49	0.22878	.	.	.	.	.	T	0.13072	0.0317	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	9	0.31617	T	0.26	.	5.6558	0.17642	0.257:0.0:0.743:0.0	.	395	Q15223-2	.	S	395	ENSP00000344974:P395S	ENSP00000344974:P395S	P	-	1	0	PVRL1	119014695	0.013000	0.17824	0.002000	0.10522	0.017000	0.09413	1.059000	0.30517	0.413000	0.25759	-0.448000	0.05591	CCT	G|0.978;A|0.022	0.022	strong		0.617	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			A	119509485	G	A	119509485	3	1	22	1	0	0	0	0	1	0	0	0	12839	1203	42	2	201	2	PVRL1	11	119509485	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	265573	119509485	15497031	6475	11583										
TRIM29	23650	hgsc.bcm.edu	37	chr11	119996490	119996490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcatacattgagcaggtcGtccttgaagttgcctagtga	11	8	0	3	rs61753082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:119996490G>A	ENST00000341846.5	-	4	1663	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Silent_p.D147D|TRIM29_ENST00000529044.1_Silent_p.D153D	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	414					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGAGCAGGTCGTCCTTGAAGT	0.562													G|||	105	0.0209665	0.0719	0.0144	5008	,	,		11882	0.0		0.0	False		,,,				2504	0.0				p.D414D		Atlas-SNP	.											.	TRIM29	78	.	0			c.C1242T						PASS	.	G		298,4100	162.2+/-194.2	15,268,1916	101	87	92		1242	-8.7	0.6	11	dbSNP_129	92	0,8590		0,0,4295	no	coding-synonymous	TRIM29	NM_012101.3		15,268,6211	AA,AG,GG		0.0,6.7758,2.2944		414/589	119996490	298,12690	2199	4295	6494	SO:0001819	synonymous_variant	23650	exon4			CAGGTCGTCCTTG	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1242C>T	11.37:g.119996490G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	118	78	0.661017	NM_012101	Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	CCDS8428.1																																																																																			G|0.979;A|0.021	0.021	strong		0.562	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		A	119996490	G	A	119996490	2	1	22	1	0	0	0	0	0	0	0	1	16500	1136	40	1		1	TRIM29	11	119996490	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	487005	119996490	15010026	6476	11584										
OAF	220323	hgsc.bcm.edu	37	chr11	120097551	120097551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgggcagtgcggcaggcGgaggaggttcggggtctgga	21	10	1	0	rs873058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:120097551G>A	ENST00000328965.4	+	3	906	c.393G>A	c.(391-393)gcG>gcA	p.A131A	OAF_ENST00000531220.1_Silent_p.A15A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	131						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TGCGGCAGGCGGAGGAGGTTC	0.612													G|||	71	0.0141773	0.0507	0.0058	5008	,	,		16367	0.0		0.0	False		,,,				2504	0.0				p.A131A		Atlas-SNP	.											.	OAF	12	.	0			c.G393A						PASS	.	G		213,4193	129.0+/-165.8	5,203,1995	64	59	61		393	-10.4	0.6	11	dbSNP_86	61	2,8598		0,2,4298	no	coding-synonymous	OAF	NM_178507.2		5,205,6293	AA,AG,GG		0.0233,4.8343,1.6531		131/274	120097551	215,12791	2203	4300	6503	SO:0001819	synonymous_variant	220323	exon3			GCAGGCGGAGGAG	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.393G>A	11.37:g.120097551G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	70	45	0.642857	NM_178507		Silent	SNP	ENST00000328965.4	37	CCDS8430.1																																																																																			G|0.982;A|0.018	0.018	strong		0.612	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		A	120097551	G	A	120097551	2	1	22	1	0	0	0	0	0	0	0	1	10798	1103	39	1		1	OAF	11	120097551	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101061	120097551	14908965	6477	11585										
GRIK4	2900	hgsc.bcm.edu	37	chr11	120811161	120811161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaattagcattctttaccgcGttcatatggtaagagactta	8	7	2	1	rs2230298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:120811161G>A	ENST00000527524.2	+	14	1869	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I	GRIK4_ENST00000438375.2_Missense_Mutation_p.V528I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	528			V -> I (in dbSNP:rs35599906). {ECO:0000269|PubMed:8263508}.		glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCTTTACCGCGTTCATATGGT	0.388													G|||	151	0.0301518	0.1104	0.0072	5008	,	,		22695	0.0		0.0	False		,,,				2504	0.0				p.V528I		Atlas-SNP	.											.	GRIK4	149	.	0			c.G1582A						PASS	.	G	ILE/VAL	396,4010	195.7+/-220.2	25,346,1832	82	84	83		1582	5.5	1	11	dbSNP_126	83	7,8591	6.4+/-24.3	0,7,4292	yes	missense	GRIK4	NM_014619.2	29	25,353,6124	AA,AG,GG		0.0814,8.9877,3.099	probably-damaging	528/957	120811161	403,12601	2203	4299	6502	SO:0001583	missense	2900	exon12			TACCGCGTTCATA	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1582G>A	11.37:g.120811161G>A	ENSP00000435648:p.Val528Ile	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	61	0.027930402930402932	59	0.11991869918699187	2	0.0055248618784530384	0	0.0	0	0.0	G	21.3	4.125095	0.77436	0.089877	8.14E-4	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11385	2.78;2.78	5.47	5.47	0.80525	Ionotropic glutamate receptor (1);	0.121890	0.56097	D	0.000035	T	0.00356	0.0011	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.68353	0.957;0.871	T	0.00812	-1.1556	10	0.34782	T	0.22	.	18.9072	0.92467	0.0:0.0:1.0:0.0	rs35599906	528;528	A6H8K8;Q16099	.;GRIK4_HUMAN	I	528	ENSP00000435648:V528I;ENSP00000404063:V528I	ENSP00000404063:V528I	V	+	1	0	GRIK4	120316371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.384000	0.97219	2.579000	0.87056	0.591000	0.81541	GTT	G|0.964;A|0.036	0.036	strong		0.388	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		A	120811161	G	A	120811161	3	1	22	1	0	0	0	0	1	0	0	0	6776	1145	40	1	1628	1	GRIK4	11	120811161	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	713610	120811161	14195355	6478	11586										
TECTA	7007	hgsc.bcm.edu	37	chr11	120989335	120989335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccaagaatgaacaccgcAgaggttcagccgtctcctgg	12	12	2	3	rs612969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:120989335A>G	ENST00000392793.1	+	7	1382	c.1111A>G	c.(1111-1113)Aga>Gga	p.R371G	TECTA_ENST00000264037.2_Missense_Mutation_p.R371G			O75443	TECTA_HUMAN	tectorin alpha	371	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.		R -> G (in dbSNP:rs612969). {ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:9590290}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGAACACCGCAGAGGTTCAGC	0.547													G|||	2220	0.443291	0.7428	0.3818	5008	,	,		19359	0.246		0.4314	False		,,,				2504	0.2975				p.R371G		Atlas-SNP	.											.	TECTA	329	.	0			c.A1111G						PASS	.	G	GLY/ARG	2922,1484	474.6+/-357.0	963,996,244	93	93	93		1111	3.9	0	11	dbSNP_83	93	3545,5053	629.9+/-398.3	740,2065,1494	yes	missense	TECTA	NM_005422.2	125	1703,3061,1738	GG,GA,AA		41.2305,33.6813,49.7309	benign	371/2156	120989335	6467,6537	2203	4299	6502	SO:0001583	missense	7007	exon6			CACCGCAGAGGTT	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1111A>G	11.37:g.120989335A>G	ENSP00000376543:p.Arg371Gly	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	1008	0.46153846153846156	356	0.7235772357723578	147	0.40607734806629836	170	0.2972027972027972	335	0.4419525065963061	G	3.893	-0.023615	0.07634	0.663187	0.412305	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58060	0.36;0.36	5.72	3.86	0.44501	von Willebrand factor, type D domain (3);	0.115400	0.64402	N	0.000018	T	0.00012	0.0000	N	0.00223	-1.815	0.50632	P	1.1899999999998023E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47799	-0.9089	9	0.02654	T	1	.	11.7181	0.51666	0.1898:0.0:0.8102:0.0	rs612969;rs58667510;rs612969	371	O75443	TECTA_HUMAN	G	371	ENSP00000376543:R371G;ENSP00000264037:R371G	ENSP00000264037:R371G	R	+	1	2	TECTA	120494545	1.000000	0.71417	0.003000	0.11579	0.877000	0.50540	4.856000	0.62932	0.364000	0.24374	-0.213000	0.12676	AGA	A|0.525;G|0.475	0.475	strong		0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		G	120989335	A	G	120989335	3	3	22	1	0	0	0	0	1	0	0	0	15744	180	7	3	1133	3	TECTA	11	120989335	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	178174	120989335	14017181	6479	11587										
TECTA	7007	hgsc.bcm.edu	37	chr11	121016424	121016424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccctcggagcatgcagaAcagcacctatggtctgtgtg	12	11	1	1	rs200852252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:121016424A>G	ENST00000392793.1	+	12	3975	c.3704A>G	c.(3703-3705)aAc>aGc	p.N1235S	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.N1235S			O75443	TECTA_HUMAN	tectorin alpha	1235	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCATGCAGAACAGCACCTAT	0.532													A|||	4	0.000798722	0.0015	0.0029	5008	,	,		22478	0.0		0.0	False		,,,				2504	0.0				p.N1235S		Atlas-SNP	.											.	TECTA	329	.	0			c.A3704G						PASS	.	A	SER/ASN	2,4404	4.2+/-10.8	0,2,2201	157	126	136		3704	4.6	1	11		136	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	46	0,2,6500	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	1235/2156	121016424	2,13002	2203	4299	6502	SO:0001583	missense	7007	exon11			TGCAGAACAGCAC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3704A>G	11.37:g.121016424A>G	ENSP00000376543:p.Asn1235Ser	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	150	71	0.473333	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	17.08	3.298372	0.60195	4.54E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.62788	-0.0;-0.0	5.76	4.57	0.56435	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.55213	1.73	0.40504	D	0.980674	D	0.76494	0.999	D	0.83275	0.996	T	0.70927	-0.4739	10	0.31617	T	0.26	.	12.6018	0.56501	0.8617:0.1383:0.0:0.0	.	1235	O75443	TECTA_HUMAN	S	1235	ENSP00000376543:N1235S;ENSP00000264037:N1235S	ENSP00000264037:N1235S	N	+	2	0	TECTA	120521634	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	5.257000	0.65473	2.196000	0.70406	0.482000	0.46254	AAC	A|1.000;G|0.000	0.000	strong		0.532	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		G	121016424	A	G	121016424	3	3	22	1	0	0	0	0	1	0	0	0	15744	43	2	2	3746	2	TECTA	11	121016424	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27089	121016424	13990092	6480	11588										
TECTA	7007	hgsc.bcm.edu	37	chr11	121016818	121016818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggctggaggaattacacGtcctgcagtgagtccttctc	11	11	1	1	rs12275038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:121016818G>A	ENST00000392793.1	+	12	4369	c.4098G>A	c.(4096-4098)acG>acA	p.T1366T	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.T1366T			O75443	TECTA_HUMAN	tectorin alpha	1366					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAATTACACGTCCTGCAGTG	0.572													G|||	1180	0.235623	0.5499	0.1686	5008	,	,		21213	0.006		0.2097	False		,,,				2504	0.1217				p.T1366T		Atlas-SNP	.											.	TECTA	329	.	0			c.G4098A						PASS	.	G		1993,2385		473,1047,669	59	48	51		4098	-7.5	0.9	11	dbSNP_120	51	1766,6776		195,1376,2700	no	coding-synonymous	TECTA	NM_005422.2		668,2423,3369	AA,AG,GG		20.6743,45.5231,29.0944		1366/2156	121016818	3759,9161	2189	4271	6460	SO:0001819	synonymous_variant	7007	exon11			TTACACGTCCTGC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4098G>A	11.37:g.121016818G>A		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			G|0.722;A|0.278	0.278	strong		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121016818	G	A	121016818	2	1	22	1	0	0	0	0	0	0	0	1	15744	1132	40	1		1	TECTA	11	121016818	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394	121016818	13989698	6481	11589										
SORL1	6653	hgsc.bcm.edu	37	chr11	121367626	121367626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatctacattgaacgacaTgaaccctctggctactccac	5	15	2	2	rs12364988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:121367626T>C	ENST00000260197.7	+	6	936	c.807T>C	c.(805-807)caT>caC	p.H269H	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	269					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.H269H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGAACGACATGAACCCTCTG	0.408													T|||	2222	0.44369	0.4902	0.5101	5008	,	,		20039	0.3115		0.495	False		,,,				2504	0.4172				p.H269H		Atlas-SNP	.											SORL1,NS,carcinoma,0,1	SORL1	218	1	1	Substitution - coding silent(1)	stomach(1)	c.T807C						PASS	.	T		2210,2196	590.2+/-387.3	545,1120,538	87	81	83		807	-8.8	0.6	11	dbSNP_120	83	4471,4127	586.4+/-392.0	1201,2069,1029	no	coding-synonymous	SORL1	NM_003105.5		1746,3189,1567	CC,CT,TT		47.9995,49.8411,48.6235		269/2215	121367626	6681,6323	2203	4299	6502	SO:0001819	synonymous_variant	6653	exon6			ACGACATGAACCC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.807T>C	11.37:g.121367626T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_003105	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																			T|0.511;C|0.489	0.489	strong		0.408	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121367626	T	C	121367626	2	2	22	1	0	0	0	0	0	0	0	1	14934	1461	51	2		2	SORL1	11	121367626	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	350808	121367626	13638890	6482	11590										
UBASH3B	84959	hgsc.bcm.edu	37	chr11	122678778	122678778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccattttcccccaggaaAtaacatcctgattgtggccc	7	13	0	1	rs35343548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:122678778A>G	ENST00000284273.5	+	13	2081	c.1706A>G	c.(1705-1707)aAt>aGt	p.N569S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	569	Protein tyrosine phosphatase. {ECO:0000250}.		N -> S (in dbSNP:rs35343548).		negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCCAGGAAATAACATCCTG	0.473													A|||	33	0.00658946	0.0242	0.0014	5008	,	,		18186	0.0		0.0	False		,,,				2504	0.0				p.N569S		Atlas-SNP	.											.	UBASH3B	73	.	0			c.A1706G						PASS	.	A	SER/ASN	74,4330	66.4+/-103.9	0,74,2128	336	327	330		1706	4.7	1	11	dbSNP_126	330	2,8596		0,2,4297	yes	missense	UBASH3B	NM_032873.4	46	0,76,6425	GG,GA,AA		0.0233,1.6803,0.5845	benign	569/650	122678778	76,12926	2202	4299	6501	SO:0001583	missense	84959	exon13			CAGGAAATAACAT	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1706A>G	11.37:g.122678778A>G	ENSP00000284273:p.Asn569Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	130	49	0.376923	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	A	15.55	2.865578	0.51588	0.016803	2.33E-4	ENSG00000154127	ENST00000284273	T	0.27890	1.64	5.85	4.74	0.60224	Histidine phosphatase superfamily, clade-1 (1);	0.130095	0.64402	N	0.000002	T	0.10423	0.0255	L	0.27053	0.805	0.46376	D	0.999012	B	0.06786	0.001	B	0.08055	0.003	T	0.03514	-1.1029	10	0.48119	T	0.1	-8.6767	7.823	0.29298	0.7888:0.1392:0.072:0.0	rs35343548	569	Q8TF42	UBS3B_HUMAN	S	569	ENSP00000284273:N569S	ENSP00000284273:N569S	N	+	2	0	UBASH3B	122183988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.395000	0.52558	1.061000	0.40601	0.533000	0.62120	AAT	A|0.992;G|0.008	0.008	strong		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		G	122678778	A	G	122678778	3	3	22	1	0	0	0	0	1	0	0	0	16837	101	4	2	1756	2	UBASH3B	11	122678778	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1311152	122678778	12327738	6483	11591										
HSPA8	3312	hgsc.bcm.edu	37	chr11	122931337	122931337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcaatttccttcatcttTgtcagaaccatagaagacac	5	11	4	3	rs147610984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:122931337T>C	ENST00000532636.1	-	3	494	c.375A>G	c.(373-375)acA>acG	p.T125T	SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Silent_p.T125T|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000526110.1_Silent_p.T125T|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.T125T|HSPA8_ENST00000453788.2_Silent_p.T125T|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	125					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCTTCATCTTTGTCAGAACCA	0.488													T|||	41	0.0081869	0.0303	0.0014	5008	,	,		19288	0.0		0.0	False		,,,				2504	0.0				p.T125T	Colon(21;486 594 5900 6733 14272)	Atlas-SNP	.											.	HSPA8	168	.	0			c.A375G						PASS	.	T	,	123,4281	91.6+/-130.3	1,121,2080	94	97	96		375,375	-2.6	1	11	dbSNP_134	96	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	HSPA8	NM_006597.4,NM_153201.2	,	1,121,6379	CC,CT,TT		0.0,2.7929,0.946	,	125/647,125/494	122931337	123,12879	2202	4299	6501	SO:0001819	synonymous_variant	3312	exon3			CATCTTTGTCAGA	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.375A>G	11.37:g.122931337T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	132	56	0.424242	NM_006597	Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																			T|0.989;C|0.011	0.011	strong		0.488	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			C	122931337	T	C	122931337	2	2	22	1	0	0	0	0	0	0	0	1	7416	1799	63	2		2	HSPA8	11	122931337	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	252559	122931337	12075179	6484	11592										
SCN3B	55800	hgsc.bcm.edu	37	chr11	123516316	123516316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaatctttaccgccctcGggcctgtagaaccattccac	8	14	1	1	rs115752338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123516316G>A	ENST00000392770.2	-	2	1000	c.198C>T	c.(196-198)ccC>ccT	p.P66P	SCN3B_ENST00000530277.1_Silent_p.P66P|SCN3B_ENST00000299333.3_Silent_p.P66P	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	66	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCGCCCTCGGGCCTGTAGA	0.597													A|||	46	0.0091853	0.0325	0.0043	5008	,	,		19339	0.0		0.0	False		,,,				2504	0.0				p.P66P		Atlas-SNP	.											.	SCN3B	53	.	0			c.C198T						PASS	.	A	,	118,4286	815.4+/-416.2	2,114,2086	131	135	134		198,198	-11.9	0	11	dbSNP_132	134	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SCN3B	NM_001040151.1,NM_018400.3	,	2,114,6385	AA,AG,GG		0.0,2.6794,0.9076	,	66/216,66/216	123516316	118,12884	2202	4299	6501	SO:0001819	synonymous_variant	55800	exon2			GCCCTCGGGCCTG	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.198C>T	11.37:g.123516316G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	112	68	0.607143	NM_018400	A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	CCDS8442.1																																																																																			G|0.990;A|0.010	0.010	strong		0.597	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		A	123516316	G	A	123516316	2	1	22	1	0	0	0	0	0	0	0	1	13919	1103	39	1		1	SCN3B	11	123516316	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	584979	123516316	11490200	6485	11593										
ZNF202	7753	hgsc.bcm.edu	37	chr11	123600475	123600475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattaggtgactcaggctccActcctaaatgcaccgtctcc	7	15	2	1	rs1144507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123600475A>G	ENST00000529691.1	-	3	680	c.461T>C	c.(460-462)gTg>gCg	p.V154A	ZNF202_ENST00000530393.1_Missense_Mutation_p.V154A|ZNF202_ENST00000336139.4_Missense_Mutation_p.V154A			O95125	ZN202_HUMAN	zinc finger protein 202	154			V -> A (in dbSNP:rs1144507). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9790754, ECO:0000269|Ref.2, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTCAGGCTCCACTCCTAAATG	0.567													G|||	3332	0.665335	0.767	0.6744	5008	,	,		17779	0.4812		0.7038	False		,,,				2504	0.6718				p.V154A		Atlas-SNP	.											.	ZNF202	72	.	0			c.T461C						PASS	.	G	ALA/VAL	3349,1055	385.4+/-325.7	1283,783,136	80	73	75		461	2.2	0.1	11	dbSNP_87	75	5952,2646	428.2+/-355.8	2060,1832,407	yes	missense	ZNF202	NM_003455.2	64	3343,2615,543	GG,GA,AA		30.7746,23.9555,28.4649	benign	154/649	123600475	9301,3701	2202	4299	6501	SO:0001583	missense	7753	exon5			GGCTCCACTCCTA	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.461T>C	11.37:g.123600475A>G	ENSP00000433881:p.Val154Ala	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	1449	0.6634615384615384	370	0.7520325203252033	263	0.7265193370165746	294	0.513986013986014	522	0.6886543535620053	G	0.954	-0.705563	0.03255	0.760445	0.692254	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.05199	3.48;3.48;3.48	5.32	2.24	0.28232	Transcription regulator SCAN (1);	0.889113	0.09433	N	0.802821	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18366	-1.0339	9	0.07482	T	0.82	0.0046	3.4437	0.07473	0.291:0.0:0.5312:0.1778	rs1144507;rs1676625;rs17127630;rs17845378;rs17858233;rs52822077;rs61168479;rs1144507	154	O95125	ZN202_HUMAN	A	154	ENSP00000337724:V154A;ENSP00000432504:V154A;ENSP00000433881:V154A	ENSP00000337724:V154A	V	-	2	0	ZNF202	123105685	0.015000	0.18098	0.097000	0.21041	0.608000	0.37181	0.449000	0.21744	0.242000	0.21303	-0.226000	0.12346	GTG	A|0.307;G|0.693	0.693	strong		0.567	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		G	123600475	A	G	123600475	3	3	22	1	0	0	0	0	1	0	0	0	17760	159	6	2	1505	2	ZNF202	11	123600475	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84159	123600475	11406041	6486	11594										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123847473	123847473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctttgcagagcatgcttcAcctccttgttccgcaaagtg	9	13	1	1	rs55944888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123847473A>G	ENST00000531945.1	-	1	1015	c.926T>C	c.(925-927)gTg>gCg	p.V309A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCATGCTTCACCTCCTTGTT	0.527													A|||	577	0.115216	0.0552	0.1585	5008	,	,		21721	0.1081		0.1829	False		,,,				2504	0.1033				p.V309A		Atlas-SNP	.											.	OR10S1	78	.	0			c.T926C						PASS	.	A	ALA/VAL	332,4072	174.8+/-204.3	17,298,1887	81	78	79		926	4.8	0.9	11	dbSNP_129	79	1454,7144	277.4+/-292.8	120,1214,2965	yes	missense	OR10S1	NM_001004474.1	64	137,1512,4852	GG,GA,AA		16.9109,7.5386,13.7363	possibly-damaging	309/332	123847473	1786,11216	2202	4299	6501	SO:0001583	missense	219873	exon1			TGCTTCACCTCCT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.926T>C	11.37:g.123847473A>G	ENSP00000431914:p.Val309Ala	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	73	35	0.479452	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	274	0.12545787545787546	16	0.032520325203252036	65	0.17955801104972377	68	0.11888111888111888	125	0.16490765171503957	A	9.610	1.131046	0.21041	0.075386	0.169109	ENSG00000196248	ENST00000531945	T	0.39592	1.07	4.82	4.82	0.62117	.	0.000000	0.31989	U	0.006759	T	0.00109	0.0003	M	0.67569	2.06	0.80722	P	0.0	B	0.20368	0.044	B	0.15870	0.014	T	0.07366	-1.0776	9	0.87932	D	0	-20.1912	14.1878	0.65617	1.0:0.0:0.0:0.0	rs55944888	309	Q8NGN2	O10S1_HUMAN	A	309	ENSP00000431914:V309A	ENSP00000431914:V309A	V	-	2	0	OR10S1	123352683	0.440000	0.25618	0.900000	0.35374	0.282000	0.26991	5.304000	0.65744	2.004000	0.58718	0.460000	0.39030	GTG	A|0.862;G|0.138	0.138	strong		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		G	123847473	A	G	123847473	3	3	22	1	0	0	0	0	1	0	0	0	10918	159	6	2	73	2	OR10S1	11	123847473	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	246998	123847473	11159043	6487	11595										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123848121	123848121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaggcctgccatgaccTtgggcactgtcactgtagac	11	13	2	2	rs17686210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123848121T>C	ENST00000531945.1	-	1	367	c.278A>G	c.(277-279)aAg>aGg	p.K93R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	93			K -> R (in dbSNP:rs17686210).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCCATGACCTTGGGCACTGT	0.552													T|||	902	0.180112	0.1558	0.2161	5008	,	,		23775	0.1171		0.2903	False		,,,				2504	0.1391				p.K93R		Atlas-SNP	.											.	OR10S1	78	.	0			c.A278G						PASS	.	T	ARG/LYS	739,3665	302.4+/-287.4	65,609,1528	84	67	73		278	3.7	1	11	dbSNP_123	73	2217,6381	373.0+/-336.8	297,1623,2379	yes	missense	OR10S1	NM_001004474.1	26	362,2232,3907	CC,CT,TT		25.7851,16.7802,22.735	benign	93/332	123848121	2956,10046	2202	4299	6501	SO:0001583	missense	219873	exon1			ATGACCTTGGGCA	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.278A>G	11.37:g.123848121T>C	ENSP00000431914:p.Lys93Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	88	29	0.329545	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	449	0.20558608058608058	81	0.16463414634146342	87	0.24033149171270718	73	0.12762237762237763	208	0.27440633245382584	T	11.00	1.511627	0.27036	0.167802	0.257851	ENSG00000196248	ENST00000531945	T	0.06768	3.26	4.84	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.195670	0.24750	U	0.035919	T	0.00012	0.0000	L	0.28458	0.855	0.44373	P	0.00273000000000001	D	0.60575	0.988	P	0.51657	0.676	T	0.50734	-0.8793	9	0.48119	T	0.1	-9.7909	11.6588	0.51334	0.0:0.0:0.1488:0.8512	rs17686210;rs52830816;rs17686210	93	Q8NGN2	O10S1_HUMAN	R	93	ENSP00000431914:K93R	ENSP00000431914:K93R	K	-	2	0	OR10S1	123353331	0.335000	0.24748	1.000000	0.80357	0.953000	0.61014	0.933000	0.28897	0.877000	0.35895	-0.340000	0.08031	AAG	T|0.785;C|0.215	0.215	strong		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		C	123848121	T	C	123848121	3	2	22	1	0	0	0	0	1	0	0	0	10918	1609	56	3	721	3	OR10S1	11	123848121	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	648	123848121	11158395	6488	11596										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123848212	123848212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaggtgagagtcagagcCcacagttaggaggatgagga	17	6	1	4	rs17759513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123848212C>T	ENST00000531945.1	-	1	276	c.187G>A	c.(187-189)Ggc>Agc	p.G63S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	63			G -> S (in dbSNP:rs17759513).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGTCAGAGCCCACAGTTAGG	0.527													C|||	867	0.173123	0.1301	0.2147	5008	,	,		22925	0.1171		0.2903	False		,,,				2504	0.1391				p.G63S		Atlas-SNP	.											.	OR10S1	78	.	0			c.G187A						PASS	.	C	SER/GLY	660,3744	281.1+/-275.7	45,570,1587	71	63	66		187	1.9	1	11	dbSNP_123	66	2219,6379	374.8+/-337.5	296,1627,2376	yes	missense	OR10S1	NM_001004474.1	56	341,2197,3963	TT,TC,CC		25.8083,14.9864,22.1427	benign	63/332	123848212	2879,10123	2202	4299	6501	SO:0001583	missense	219873	exon1			CAGAGCCCACAGT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.187G>A	11.37:g.123848212C>T	ENSP00000431914:p.Gly63Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	63	23	0.365079	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	433	0.19826007326007325	65	0.13211382113821138	87	0.24033149171270718	73	0.12762237762237763	208	0.27440633245382584	C	9.701	1.154552	0.21371	0.149864	0.258083	ENSG00000196248	ENST00000531945	T	0.01076	5.37	4.84	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	1.379400	0.05329	U	0.527956	T	0.00012	0.0000	N	0.03930	-0.32	0.52099	P	5.900000000003125E-5	B	0.14438	0.01	B	0.08055	0.003	T	0.41680	-0.9495	9	0.22109	T	0.4	-6.4442	4.5215	0.11960	0.1454:0.5349:0.0:0.3197	rs17759513;rs52797693;rs60266391;rs17759513	63	Q8NGN2	O10S1_HUMAN	S	63	ENSP00000431914:G63S	ENSP00000431914:G63S	G	-	1	0	OR10S1	123353422	0.000000	0.05858	0.998000	0.56505	0.996000	0.88848	-0.391000	0.07323	0.668000	0.31126	0.638000	0.83543	GGC	C|0.792;N|0.000	.	strong		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123848212	C	T	123848212	3	4	22	1	0	0	0	0	1	0	0	0	10918	623	22	2	812	2	OR10S1	11	123848212	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91	123848212	11158304	6489	11597										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886466	123886466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatgtactacttcctcaCcaacctgtccttcattgaca	3	17	2	1	rs12422129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123886466C>T	ENST00000320891.4	+	1	185	c.185C>T	c.(184-186)aCc>aTc	p.T62I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T62I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TACTTCCTCACCAACCTGTCC	0.552													N|||	447	0.0892572	0.112	0.1542	5008	,	,		23112	0.1478		0.007	False		,,,				2504	0.0368				p.T62I		Atlas-SNP	.											OR10G4,NS,carcinoma,0,1	OR10G4	77	1	1	Substitution - Missense(1)	stomach(1)	c.C185T						scavenged	.	C	ILE/THR	415,3985	195.0+/-219.7	26,363,1811	39	31	34		185	2.6	1	11	dbSNP_120	34	30,8494	17.3+/-56.4	0,30,4232	no	missense	OR10G4	NM_001004462.1	89	26,393,6043	TT,TC,CC		0.3519,9.4318,3.4432	benign	62/312	123886466	445,12479	2200	4262	6462	SO:0001583	missense	390264	exon1			TCCTCACCAACCT	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.185C>T	11.37:g.123886466C>T	ENSP00000325076:p.Thr62Ile	Somatic	658	0	0		WXS	Illumina HiSeq	Phase_I	696	318	0.456897	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	214	0.09798534798534798	57	0.11585365853658537	64	0.17679558011049723	87	0.1520979020979021	6	0.0079155672823219	c	11.28	1.592265	0.28357	0.094318	0.003519	ENSG00000254737	ENST00000320891	T	0.01092	5.35	3.49	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.653762	0.13418	N	0.389385	T	0.00012	0.0000	L	0.28504	0.86	0.50813	P	1.0500000000002174E-4	P	0.37176	0.586	B	0.39617	0.305	T	0.51919	-0.8644	9	0.66056	D	0.02	.	4.6639	0.12655	0.0:0.4691:0.3243:0.2066	rs12422129	62	Q8NGN3	O10G4_HUMAN	I	62	ENSP00000325076:T62I	ENSP00000325076:T62I	T	+	2	0	OR10G4	123391676	0.000000	0.05858	0.989000	0.46669	0.902000	0.53008	0.003000	0.13083	0.829000	0.34733	-0.192000	0.12808	ACC	T|1.000;|0.000	1.000	weak		0.552	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123886466	C	T	123886466	3	4	22	1	0	0	0	0	1	0	0	0	10901	507	18	2	187	2	OR10G4	11	123886466	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38254	123886466	11120050	6490	11598										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886648	123886648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	14	2	1	rs397832341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123886648T>C	ENST00000320891.4	+	1	367	c.367T>C	c.(367-369)Ttg>Ctg	p.L123L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGATCGCTACTTGGCCATCAG	0.567													t|||	2	0.000399361	0.0008	0.0	5008	,	,		23929	0.0		0.0	False		,,,				2504	0.001				p.L123L		Atlas-SNP	.											OR10G4,right_lower_lobe,carcinoma,-2,1	OR10G4	77	1	0			c.T367C						scavenged	.																																			SO:0001819	synonymous_variant	390264	exon1			CGCTACTTGGCCA	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.367T>C	11.37:g.123886648T>C		Somatic	1243	0	0		WXS	Illumina HiSeq	Phase_I	939	202	0.215122	NM_001004462	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																			.	.	none		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		C	123886648	T	C	123886648	2	2	22	1	0	0	0	0	0	0	0	1	10901	1606	56	3		3	OR10G4	11	123886648	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	182	123886648	11119868	6491	11599										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886681	123886681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgctcaggtacaccagcAtgatgagtgggagcaggtgt	14	10	1	2	rs1893766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123886681A>G	ENST00000320891.4	+	1	400	c.400A>G	c.(400-402)Atg>Gtg	p.M134V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	134			M -> V (in dbSNP:rs1893766).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTACACCAGCATGATGAGTGG	0.537																																					p.M134V		Atlas-SNP	.											OR10G4,NS,malignant_melanoma,-2,2	OR10G4	77	2	0			c.A400G						PASS	.	A	VAL/MET	1654,2750		223,1208,771	196	182	187		400	-3.9	0.2	11	dbSNP_92	187	3900,4698		857,2186,1256	no	missense	OR10G4	NM_001004462.1	21	1080,3394,2027	GG,GA,AA		45.3594,37.5568,42.7165	benign	134/312	123886681	5554,7448	2202	4299	6501	SO:0001583	missense	390264	exon1			ACCAGCATGATGA	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.400A>G	11.37:g.123886681A>G	ENSP00000325076:p.Met134Val	Somatic	1152	2	0.00173611		WXS	Illumina HiSeq	Phase_I	902	204	0.226164	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	927	0.42445054945054944	192	0.3902439024390244	189	0.5220994475138122	220	0.38461538461538464	326	0.43007915567282323	a	0.221	-1.028595	0.02045	0.375568	0.453594	ENSG00000254737	ENST00000320891	T	0.01279	5.06	3.16	-3.86	0.04230	GPCR, rhodopsin-like superfamily (1);	0.915557	0.09172	N	0.838708	T	0.00012	0.0000	N	0.01128	-1	0.58432	P	2.9999999999752447E-6	B	0.09022	0.002	B	0.10450	0.005	T	0.20874	-1.0262	9	0.45353	T	0.12	.	6.5828	0.22605	0.2978:0.4717:0.0:0.2305	rs1893766;rs17128175	134	Q8NGN3	O10G4_HUMAN	V	134	ENSP00000325076:M134V	ENSP00000325076:M134V	M	+	1	0	OR10G4	123391891	0.000000	0.05858	0.173000	0.22940	0.146000	0.21551	-2.459000	0.01000	-0.897000	0.03910	-0.492000	0.04666	ATG	A|0.567;G|0.433	0.433	strong		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		G	123886681	A	G	123886681	3	3	22	1	0	0	0	0	1	0	0	0	10901	217	8	2	402	2	OR10G4	11	123886681	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	123886681	11119835	6492	11600										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886822	123886822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcactacttctgtgacgcaCcgcccatcctgaaactggcc	8	16	1	2	rs1893764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123886822C>T	ENST00000320891.4	+	1	541	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	181			P -> S (in dbSNP:rs1893764).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTGACGCACCGCCCATCCT	0.532													c|||	398	0.0794728	0.0787	0.147	5008	,	,		22538	0.1478		0.007	False		,,,				2504	0.0368				p.P181S		Atlas-SNP	.											OR10G4,rectum,carcinoma,-2,8	OR10G4	77	8	1	Substitution - Missense(1)	stomach(1)	c.C541T						PASS	.	C	SER/PRO	287,4115	159.2+/-191.8	8,271,1922	200	167	178		541	3.3	0.2	11	dbSNP_92	178	25,8569	17.3+/-56.4	0,25,4272	no	missense	OR10G4	NM_001004462.1	74	8,296,6194	TT,TC,CC		0.2909,6.5198,2.4007	probably-damaging	181/312	123886822	312,12684	2201	4297	6498	SO:0001583	missense	390264	exon1			GACGCACCGCCCA	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.541C>T	11.37:g.123886822C>T	ENSP00000325076:p.Pro181Ser	Somatic	501	0	0		WXS	Illumina HiSeq	Phase_I	482	266	0.551867	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	192	0.08791208791208792	41	0.08333333333333333	59	0.16298342541436464	86	0.15034965034965034	6	0.0079155672823219	c	7.944	0.743428	0.15642	0.065198	0.002909	ENSG00000254737	ENST00000320891	T	0.00202	8.56	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000296	T	0.00012	0.0000	L	0.58510	1.815	0.80722	P	0.0	D	0.55605	0.972	D	0.65233	0.933	T	0.73940	-0.3824	9	0.41790	T	0.15	.	11.0054	0.47631	0.0:0.81:0.19:0.0	rs1893764;rs1893764	181	Q8NGN3	O10G4_HUMAN	S	181	ENSP00000325076:P181S	ENSP00000325076:P181S	P	+	1	0	OR10G4	123392032	0.000000	0.05858	0.168000	0.22838	0.011000	0.07611	-1.190000	0.03058	1.878000	0.54408	0.580000	0.79431	CCG	C|0.907;T|0.093	0.093	strong		0.532	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123886822	C	T	123886822	3	4	22	1	0	0	0	0	1	0	0	0	10901	507	18	2	543	2	OR10G4	11	123886822	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	141	123886822	11119694	6493	11601										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123886984	123886984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacctcagatgggaggcgcAgagcctttcagacctgtgcc	13	13	2	3	rs4936880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123886984A>G	ENST00000320891.4	+	1	703	c.703A>G	c.(703-705)Aga>Gga	p.R235G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	235			R -> G (in dbSNP:rs4936880).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGGAGGCGCAGAGCCTTTCA	0.537													a|||	2140	0.427316	0.4682	0.5014	5008	,	,		20938	0.3591		0.4404	False		,,,				2504	0.3763				p.R235G		Atlas-SNP	.											.	OR10G4	77	.	0			c.A703G						PASS	.	A	GLY/ARG	2096,2306	573.2+/-383.5	510,1076,615	179	145	157		703	3.3	1	11	dbSNP_111	157	3917,4681	546.9+/-385.1	872,2173,1254	yes	missense	OR10G4	NM_001004462.1	125	1382,3249,1869	GG,GA,AA		45.5571,47.6147,46.2538	probably-damaging	235/312	123886984	6013,6987	2201	4299	6500	SO:0001583	missense	390264	exon1			AGGCGCAGAGCCT	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.703A>G	11.37:g.123886984A>G	ENSP00000325076:p.Arg235Gly	Somatic	363	1	0.00275482		WXS	Illumina HiSeq	Phase_I	340	340	1	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	978	0.4478021978021978	221	0.4491869918699187	195	0.5386740331491713	232	0.40559440559440557	330	0.43535620052770446	a	15.39	2.819021	0.50633	0.476147	0.455571	ENSG00000254737	ENST00000320891	T	0.00169	8.63	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.135740	0.32161	N	0.006484	T	0.00012	0.0000	M	0.87381	2.88	0.37292	P	0.09169000000000005	P	0.46578	0.88	P	0.58660	0.843	T	0.00673	-1.1616	9	0.87932	D	0	.	11.8736	0.52534	1.0:0.0:0.0:0.0	rs4936880;rs4936880	235	Q8NGN3	O10G4_HUMAN	G	235	ENSP00000325076:R235G	ENSP00000325076:R235G	R	+	1	2	OR10G4	123392194	0.370000	0.25047	0.977000	0.42913	0.770000	0.43624	2.582000	0.46085	1.529000	0.49120	0.473000	0.43528	AGA	A|0.538;G|0.462	0.462	strong		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		G	123886984	A	G	123886984	3	3	22	1	0	0	0	0	1	0	0	0	10901	180	7	3	705	3	OR10G4	11	123886984	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	162	123886984	11119532	6494	11602										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123887164	123887164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgagaaacaaggaggtgAagaaagctgtgttgaaactt	12	6	0	4	rs4936881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123887164A>C	ENST00000320891.4	+	1	883	c.883A>C	c.(883-885)Aag>Cag	p.K295Q		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	295			K -> Q (in dbSNP:rs4936881).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K295Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAAGGAGGTGAAGAAAGCTGT	0.413													a|||	2142	0.427716	0.469	0.5029	5008	,	,		20676	0.3591		0.4404	False		,,,				2504	0.3763				p.K295Q		Atlas-SNP	.											OR10G4,NS,carcinoma,-2,2	OR10G4	77	2	1	Substitution - Missense(1)	stomach(1)	c.A883C						PASS	.	A	GLN/LYS	2107,2295	574.0+/-383.7	510,1087,604	78	73	75		883	3.4	0.9	11	dbSNP_111	75	3918,4678	545.6+/-384.8	872,2174,1252	yes	missense	OR10G4	NM_001004462.1	53	1382,3261,1856	CC,CA,AA		45.5793,47.8646,46.3533	benign	295/312	123887164	6025,6973	2201	4298	6499	SO:0001583	missense	390264	exon1			GAGGTGAAGAAAG	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.883A>C	11.37:g.123887164A>C	ENSP00000325076:p.Lys295Gln	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	157	154	0.980892	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	977	0.44734432234432236	223	0.4532520325203252	192	0.5303867403314917	231	0.40384615384615385	331	0.4366754617414248	a	13.05	2.121331	0.37436	0.478646	0.455793	ENSG00000254737	ENST00000320891	T	0.39406	1.08	3.38	3.38	0.38709	.	0.162599	0.28772	N	0.014191	T	0.00012	0.0000	L	0.42632	1.34	0.41583	P	0.011248000000000036	B	0.30021	0.265	B	0.31337	0.128	T	0.48317	-0.9046	9	0.72032	D	0.01	.	11.9412	0.52903	1.0:0.0:0.0:0.0	rs4936881;rs4936881	295	Q8NGN3	O10G4_HUMAN	Q	295	ENSP00000325076:K295Q	ENSP00000325076:K295Q	K	+	1	0	OR10G4	123392374	0.772000	0.28567	0.943000	0.38184	0.941000	0.58515	3.532000	0.53553	1.547000	0.49401	0.473000	0.43528	AAG	A|0.539;C|0.461	0.461	strong		0.413	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		C	123887164	A	C	123887164	3	2	22	1	0	0	0	0	1	0	0	0	10901	247	9	5	885	5	OR10G4	11	123887164	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	180	123887164	11119352	6495	11603										
OR10G9	219870	hgsc.bcm.edu	37	chr11	123893745	123893745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaccagcctcgtgacagCgttcatcctcacgggccttc	9	16	2	2	rs79715120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123893745C>T	ENST00000375024.1	+	1	26	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A9E(1)|p.A9V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTCGTGACAGCGTTCATCCTC	0.542													c|||	607	0.121206	0.2269	0.1643	5008	,	,		20512	0.1448		0.007	False		,,,				2504	0.0409				p.A9V		Atlas-SNP	.											OR10G9,NS,carcinoma,-1,2	OR10G9	80	2	2	Substitution - Missense(2)	lung(1)|stomach(1)	c.C26T						scavenged	.	T	VAL/ALA	738,3664	302.7+/-287.5	63,612,1526	166	160	162		26	0.1	0	11	dbSNP_131	162	31,8567	19.8+/-62.0	0,31,4268	no	missense	OR10G9	NM_001001953.1	64	63,643,5794	TT,TC,CC		0.3605,16.7651,5.9154	benign	9/312	123893745	769,12231	2201	4299	6500	SO:0001583	missense	219870	exon1			TGACAGCGTTCAT	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.26C>T	11.37:g.123893745C>T	ENSP00000364164:p.Ala9Val	Somatic	453	2	0.00441501		WXS	Illumina HiSeq	Phase_I	293	280	0.955631	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	268	0.1227106227106227	110	0.22357723577235772	69	0.19060773480662985	83	0.1451048951048951	6	0.0079155672823219	c	6.990	0.552700	0.13374	0.167651	0.003605	ENSG00000236981	ENST00000375024	T	0.01099	5.34	3.33	0.0811	0.14423	.	1.672720	0.03223	N	0.177899	T	0.00012	0.0000	N	0.03948	-0.315	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.46470	-0.9189	9	0.66056	D	0.02	.	3.9561	0.09390	0.2761:0.4281:0.0:0.2959	.	9	Q8NGN4	O10G9_HUMAN	V	9	ENSP00000364164:A9V	ENSP00000364164:A9V	A	+	2	0	OR10G9	123398955	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.570000	0.05895	-0.395000	0.07715	-4.114000	0.00011	GCG	C|0.925;T|0.075	0.075	strong		0.542	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		T	123893745	C	T	123893745	3	4	22	1	0	0	0	0	1	0	0	0	10904	768	27	1	28	1	OR10G9	11	123893745	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6581	123893745	11112771	6496	11604										
OR10G9	219870	hgsc.bcm.edu	37	chr11	123893904	123893904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatgtactacttcctcaCcaacctgtccttcattgaca	3	17	2	1	rs144495400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123893904C>T	ENST00000375024.1	+	1	185	c.185C>T	c.(184-186)aCc>aTc	p.T62I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T62I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TACTTCCTCACCAACCTGTCC	0.552													C|||	395	0.0788738	0.0787	0.147	5008	,	,		21277	0.1448		0.007	False		,,,				2504	0.0368				p.T62I		Atlas-SNP	.											OR10G9,NS,carcinoma,0,1	OR10G9	80	1	1	Substitution - Missense(1)	stomach(1)	c.C185T						scavenged	.	C	ILE/THR	273,4127	141.1+/-176.5	8,257,1935	43	42	42		185	1.3	1	11	dbSNP_134	42	24,8530	14.6+/-50.1	0,24,4253	no	missense	OR10G9	NM_001001953.1	89	8,281,6188	TT,TC,CC		0.2806,6.2045,2.2927	benign	62/312	123893904	297,12657	2200	4277	6477	SO:0001583	missense	219870	exon1			TCCTCACCAACCT	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.185C>T	11.37:g.123893904C>T	ENSP00000364164:p.Thr62Ile	Somatic	708	2	0.00282486		WXS	Illumina HiSeq	Phase_I	685	327	0.477372	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	196	0.08974358974358974	45	0.09146341463414634	62	0.1712707182320442	83	0.1451048951048951	6	0.0079155672823219	C	10.75	1.439666	0.25900	0.062045	0.002806	ENSG00000236981	ENST00000375024	T	0.01092	5.35	3.33	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.649434	0.13528	N	0.381190	T	0.00012	0.0000	L	0.33339	1.005	0.36500	P	0.131035	B	0.02656	0.0	B	0.13407	0.009	T	0.40156	-0.9578	9	0.72032	D	0.01	.	9.0	0.36077	0.0:0.2886:0.6123:0.099	.	62	Q8NGN4	O10G9_HUMAN	I	62	ENSP00000364164:T62I	ENSP00000364164:T62I	T	+	2	0	OR10G9	123399114	0.000000	0.05858	0.983000	0.44433	0.981000	0.71138	-0.275000	0.08525	0.188000	0.20168	0.655000	0.94253	ACC	T|1.000;|0.000	1.000	weak		0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		T	123893904	C	T	123893904	3	4	22	1	0	0	0	0	1	0	0	0	10904	507	18	2	187	2	OR10G9	11	123893904	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159	123893904	11112612	6497	11605										
OR10G9	219870	hgsc.bcm.edu	37	chr11	123894246	123894246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaaccagatccagcactAtttgtgtgatgcaccgccca	7	15	0	2	rs79669172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123894246A>G	ENST00000375024.1	+	1	527	c.527A>G	c.(526-528)tAt>tGt	p.Y176C		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	176						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCCAGCACTATTTGTGTGAT	0.557													A|||	437	0.0872604	0.1067	0.1556	5008	,	,		22802	0.1438		0.007	False		,,,				2504	0.0368				p.Y176C		Atlas-SNP	.											.	OR10G9	80	.	0			c.A527G						PASS	.	A	CYS/TYR	392,4010	194.3+/-219.2	19,354,1828	276	235	249		527	2.3	0.9	11	dbSNP_131	249	31,8567	20.4+/-63.3	0,31,4268	no	missense	OR10G9	NM_001001953.1	194	19,385,6096	GG,GA,AA		0.3605,8.905,3.2538	probably-damaging	176/312	123894246	423,12577	2201	4299	6500	SO:0001583	missense	219870	exon1			AGCACTATTTGTG	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.527A>G	11.37:g.123894246A>G	ENSP00000364164:p.Tyr176Cys	Somatic	415	0	0		WXS	Illumina HiSeq	Phase_I	500	267	0.534	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	192	0.08791208791208792	47	0.09552845528455285	59	0.16298342541436464	81	0.14160839160839161	5	0.006596306068601583	A	7.146	0.582843	0.13749	0.08905	0.003605	ENSG00000236981	ENST00000375024	T	0.00158	8.65	3.48	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.172945	0.27901	N	0.017397	T	0.00012	0.0000	L	0.57536	1.79	0.58432	P	1.0000000000287557E-6	D	0.69078	0.997	D	0.73708	0.981	T	0.55127	-0.8189	9	0.87932	D	0	.	4.0431	0.09760	0.4862:0.1812:0.0:0.3326	.	176	Q8NGN4	O10G9_HUMAN	C	176	ENSP00000364164:Y176C	ENSP00000364164:Y176C	Y	+	2	0	OR10G9	123399456	0.003000	0.15002	0.923000	0.36655	0.026000	0.11368	-0.026000	0.12392	0.495000	0.27882	0.533000	0.62120	TAT	A|0.952;G|0.048	0.048	strong		0.557	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		G	123894246	A	G	123894246	3	3	22	1	0	0	0	0	1	0	0	0	10904	449	16	2	529	2	OR10G9	11	123894246	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	342	123894246	11112270	6498	11606										
OR10G9	219870	hgsc.bcm.edu	37	chr11	123894317	123894317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaacgagatggtcatctttGtggacattgggctagtggcc	13	9	2	1	rs77206991	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123894317G>T	ENST00000375024.1	+	1	598	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V200L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGTCATCTTTGTGGACATTGG	0.547													T|||	436	0.0870607	0.1059	0.1556	5008	,	,		21948	0.1438		0.007	False		,,,				2504	0.0368				p.V200L		Atlas-SNP	.											OR10G9,NS,carcinoma,0,1	OR10G9	80	1	1	Substitution - Missense(1)	stomach(1)	c.G598T						PASS	.	T	LEU/VAL	399,4003	200.8+/-224.0	19,361,1821	259	228	238		598	2.6	0.7	11	dbSNP_131	238	30,8568	20.4+/-63.3	0,30,4269	yes	missense	OR10G9	NM_001001953.1	32	19,391,6090	TT,TG,GG		0.3489,9.0641,3.3	benign	200/312	123894317	429,12571	2201	4299	6500	SO:0001583	missense	219870	exon1			ATCTTTGTGGACA	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.598G>T	11.37:g.123894317G>T	ENSP00000364164:p.Val200Leu	Somatic	488	2	0.00409836		WXS	Illumina HiSeq	Phase_I	518	288	0.555985	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	213	0.09752747252747253	59	0.11991869918699187	66	0.18232044198895028	82	0.14335664335664336	6	0.0079155672823219	g	8.076	0.771331	0.16051	0.090641	0.003489	ENSG00000236981	ENST00000375024	T	0.00193	8.58	3.48	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.166261	0.28072	N	0.016712	T	0.00012	0.0000	L	0.38838	1.175	0.47905	P	4.6000000000001595E-4	B	0.06786	0.001	B	0.12837	0.008	T	0.37641	-0.9697	9	0.66056	D	0.02	.	11.3769	0.49733	0.0:0.0:0.8166:0.1834	.	200	Q8NGN4	O10G9_HUMAN	L	200	ENSP00000364164:V200L	ENSP00000364164:V200L	V	+	1	0	OR10G9	123399527	0.000000	0.05858	0.662000	0.29724	0.190000	0.23558	-1.075000	0.03423	0.807000	0.34208	-0.121000	0.15023	GTG	G|0.950;T|0.050	0.050	strong		0.547	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		T	123894317	G	T	123894317	3	4	22	1	0	0	0	0	1	0	0	0	10904	1377	48	4	600	4	OR10G9	11	123894317	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71	123894317	11112199	6499	11607										
OR10G9	219870	hgsc.bcm.edu	37	chr11	123894329	123894329	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctttgtggacattgggCtagtggcctcgggctgcttt	13	9	2	0	rs79417294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123894329C>G	ENST00000375024.1	+	1	610	c.610C>G	c.(610-612)Cta>Gta	p.L204V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACATTGGGCTAGTGGCCTC	0.547													G|||	436	0.0870607	0.1059	0.1556	5008	,	,		21026	0.1438		0.007	False		,,,				2504	0.0368				p.L204V		Atlas-SNP	.											OR10G9,NS,carcinoma,0,1	OR10G9	80	1	1	Substitution - Missense(1)	stomach(1)	c.C610G						PASS	.	G	VAL/LEU	399,4003	788.2+/-414.9	19,361,1821	257	223	235		610	-3.4	0	11	dbSNP_131	235	31,8567	817.8+/-406.9	0,31,4268	no	missense	OR10G9	NM_001001953.1	32	19,392,6089	GG,GC,CC		0.3605,9.0641,3.3077	benign	204/312	123894329	430,12570	2201	4299	6500	SO:0001583	missense	219870	exon1			ATTGGGCTAGTGG	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.610C>G	11.37:g.123894329C>G	ENSP00000364164:p.Leu204Val	Somatic	475	0	0		WXS	Illumina HiSeq	Phase_I	513	280	0.545809	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	213	0.09752747252747253	59	0.11991869918699187	66	0.18232044198895028	82	0.14335664335664336	6	0.0079155672823219	G	0.001	-3.230738	0.00023	0.090641	0.003605	ENSG00000236981	ENST00000375024	T	0.39229	1.09	3.48	-3.36	0.04913	GPCR, rhodopsin-like superfamily (1);	0.341004	0.21004	N	0.081809	T	0.00039	0.0001	N	0.11673	0.155	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.24584	-1.0156	9	0.09338	T	0.73	.	6.2065	0.20606	0.4767:0.2354:0.2879:0.0	.	204	Q8NGN4	O10G9_HUMAN	V	204	ENSP00000364164:L204V	ENSP00000364164:L204V	L	+	1	2	OR10G9	123399539	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.446000	0.02398	-1.041000	0.03266	-2.664000	0.00146	CTA	C|0.948;G|0.052	0.052	strong		0.547	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		G	123894329	C	G	123894329	3	3	22	1	0	0	0	0	1	0	0	0	10904	796	28	4	612	4	OR10G9	11	123894329	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	123894329	11112187	6500	11608										
OR10G8	219869	hgsc.bcm.edu	37	chr11	123900694	123900694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcatgtcctgtgatcgctAcctggccatcagttacccgc	10	14	2	1	rs75994039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123900694A>G	ENST00000431524.1	+	1	398	c.365A>G	c.(364-366)tAc>tGc	p.Y122C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y122C(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGATCGCTACCTGGCCATC	0.557													A|||	357	0.0712859	0.0514	0.1427	5008	,	,		21158	0.1448		0.007	False		,,,				2504	0.0378				p.Y122C		Atlas-SNP	.											OR10G8,NS,carcinoma,0,1	OR10G8	132	1	1	Substitution - Missense(1)	stomach(1)	c.A365G						PASS	.	A	CYS/TYR	192,4210	123.3+/-160.7	4,184,2013	155	145	148		365	1.8	1	11	dbSNP_131	148	24,8574	16.6+/-54.9	0,24,4275	yes	missense	OR10G8	NM_001004464.1	194	4,208,6288	GG,GA,AA		0.2791,4.3617,1.6615	probably-damaging	122/312	123900694	216,12784	2201	4299	6500	SO:0001583	missense	219869	exon1			ATCGCTACCTGGC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.365A>G	11.37:g.123900694A>G	ENSP00000389072:p.Tyr122Cys	Somatic	641	0	0		WXS	Illumina HiSeq	Phase_I	571	308	0.539405	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	174	0.07967032967032966	25	0.0508130081300813	60	0.16574585635359115	83	0.1451048951048951	6	0.0079155672823219	A	15.67	2.902071	0.52227	0.043617	0.002791	ENSG00000234560	ENST00000431524	T	0.56444	0.46	3.04	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.168879	0.28301	N	0.015846	T	0.00412	0.0013	M	0.84585	2.705	0.28590	P	0.9097025	D	0.71674	0.998	D	0.67231	0.95	T	0.25012	-1.0144	9	0.72032	D	0.01	.	7.5222	0.27635	0.8073:0.0:0.0:0.1927	.	122	Q8NGN5	O10G8_HUMAN	C	122	ENSP00000389072:Y122C	ENSP00000389072:Y122C	Y	+	2	0	OR10G8	123405904	0.780000	0.28664	0.999000	0.59377	0.896000	0.52359	1.683000	0.37638	0.340000	0.23745	0.528000	0.53228	TAC	A|0.966;G|0.034	0.034	strong		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		G	123900694	A	G	123900694	3	3	22	1	0	0	0	0	1	0	0	0	10903	391	14	2	367	2	OR10G8	11	123900694	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6365	123900694	11105822	6501	11609										
OR10G8	219869	hgsc.bcm.edu	37	chr11	123900916	123900916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacacctcagccatagagaCtgtcatttttgtgactgttg	9	9	2	3	rs75240316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123900916C>T	ENST00000431524.1	+	1	620	c.587C>T	c.(586-588)aCt>aTt	p.T196I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T196I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCATAGAGACTGTCATTTTT	0.527													T|||	357	0.0712859	0.0514	0.1427	5008	,	,		22238	0.1448		0.007	False		,,,				2504	0.0378				p.T196I		Atlas-SNP	.											OR10G8,NS,carcinoma,-1,2	OR10G8	132	2	1	Substitution - Missense(1)	stomach(1)	c.C587T						PASS	.	T	ILE/THR	192,4210	808.3+/-415.9	4,184,2013	208	183	191		587	1.6	0.7	11	dbSNP_131	191	24,8574	818.2+/-406.9	0,24,4275	yes	missense	OR10G8	NM_001004464.1	89	4,208,6288	TT,TC,CC		0.2791,4.3617,1.6615	benign	196/312	123900916	216,12784	2201	4299	6500	SO:0001583	missense	219869	exon1			TAGAGACTGTCAT	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.587C>T	11.37:g.123900916C>T	ENSP00000389072:p.Thr196Ile	Somatic	416	0	0		WXS	Illumina HiSeq	Phase_I	410	211	0.514634	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	174	0.07967032967032966	25	0.0508130081300813	60	0.16574585635359115	83	0.1451048951048951	6	0.0079155672823219	T	0.591	-0.833010	0.02713	0.043617	0.002791	ENSG00000234560	ENST00000431524	T	0.00039	8.85	2.91	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.682035	0.13235	N	0.403307	T	0.00012	0.0000	N	0.11023	0.085	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.00288	-1.1845	9	0.29301	T	0.29	.	4.9639	0.14080	0.1614:0.1026:0.0:0.736	.	196	Q8NGN5	O10G8_HUMAN	I	196	ENSP00000389072:T196I	ENSP00000389072:T196I	T	+	2	0	OR10G8	123406126	0.000000	0.05858	0.658000	0.29665	0.004000	0.04260	0.882000	0.28186	0.328000	0.23435	-0.381000	0.06696	ACT	C|0.966;T|0.034	0.034	strong		0.527	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		T	123900916	C	T	123900916	3	4	22	1	0	0	0	0	1	0	0	0	10903	565	20	2	589	2	OR10G8	11	123900916	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	222	123900916	11105600	6502	11610										
OR10G8	219869	hgsc.bcm.edu	37	chr11	123900968	123900968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgggctgctttgtcctgatAgtgctgtcctatgtgtccat	11	10	0	1	rs146815262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123900968A>G	ENST00000431524.1	+	1	672	c.639A>G	c.(637-639)atA>atG	p.I213M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	213						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)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTCCTGATAGTGCTGTCCT	0.552													A|||	5	0.000998403	0.0038	0.0	5008	,	,		21238	0.0		0.0	False		,,,				2504	0.0				p.I213M		Atlas-SNP	.											.	OR10G8	132	.	0			c.A639G						PASS	.	A	MET/ILE	11,4391	17.9+/-39.9	0,11,2190	187	162	171		639	0	0.8	11	dbSNP_134	171	0,8598		0,0,4299	yes	missense	OR10G8	NM_001004464.1	10	0,11,6489	GG,GA,AA		0.0,0.2499,0.0846	probably-damaging	213/312	123900968	11,12989	2201	4299	6500	SO:0001583	missense	219869	exon1			CCTGATAGTGCTG	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.639A>G	11.37:g.123900968A>G	ENSP00000389072:p.Ile213Met	Somatic	437	0	0		WXS	Illumina HiSeq	Phase_I	406	224	0.551724	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	8.778	0.927449	0.18056	0.002499	0.0	ENSG00000234560	ENST00000431524	T	0.00333	8.07	2.91	0.0166	0.14109	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.00754	0.0025	M	0.89601	3.045	0.22571	N	0.998971	D	0.89917	1.0	D	0.97110	1.0	T	0.36089	-0.9762	10	0.72032	D	0.01	.	7.3929	0.26919	0.3109:0.0:0.0:0.6891	.	213	Q8NGN5	O10G8_HUMAN	M	213	ENSP00000389072:I213M	ENSP00000389072:I213M	I	+	3	3	OR10G8	123406178	0.000000	0.05858	0.808000	0.32385	0.060000	0.15804	-2.286000	0.01152	0.282000	0.22254	0.455000	0.32223	ATA	A|0.999;G|0.001	0.001	strong		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		G	123900968	A	G	123900968	3	3	22	1	0	0	0	0	1	0	0	0	10903	410	15	3	641	3	OR10G8	11	123900968	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	52	123900968	11105548	6503	11611										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909099	123909099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcagcccgaggccactaGcccaatattcacaaagatga	8	12	1	2	rs59358830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909099G>T	ENST00000330487.5	-	1	618	c.610C>A	c.(610-612)Cta>Ata	p.L204I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGGCCACTAGCCCAATATTC	0.557													C|||	356	0.0710863	0.062	0.1427	5008	,	,		21056	0.1438		0.007	False		,,,				2504	0.0235				p.L204I		Atlas-SNP	.											OR10G7,NS,carcinoma,0,1	OR10G7	103	1	1	Substitution - Missense(1)	stomach(1)	c.C610A						scavenged	.	C	ILE/LEU	223,4177		11,201,1988	237	208	218		610	0.2	0	11	dbSNP_129	218	26,8572		0,26,4273	no	missense	OR10G7	NM_001004463.1	5	11,227,6261	TT,TG,GG		0.3024,5.0682,1.9157	benign	204/312	123909099	249,12749	2200	4299	6499	SO:0001583	missense	390265	exon1			CCACTAGCCCAAT	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.610C>A	11.37:g.123909099G>T	ENSP00000329689:p.Leu204Ile	Somatic	471	5	0.0106157		WXS	Illumina HiSeq	Phase_I	426	183	0.429577	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	183	0.08379120879120878	30	0.06097560975609756	60	0.16574585635359115	87	0.1520979020979021	6	0.0079155672823219	C	0	-2.812780	0.00073	0.050682	0.003024	ENSG00000182634	ENST00000330487	T	0.39406	1.08	3.38	0.193	0.15139	GPCR, rhodopsin-like superfamily (1);	0.341004	0.21004	N	0.081809	T	0.00073	0.0002	N	0.25245	0.725	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.13202	-1.0518	9	0.32370	T	0.25	.	1.6512	0.02772	0.2543:0.1988:0.3752:0.1717	rs59358830	204	Q8NGN6	O10G7_HUMAN	I	204	ENSP00000329689:L204I	ENSP00000329689:L204I	L	-	1	2	OR10G7	123414309	0.000000	0.05858	0.003000	0.11579	0.130000	0.20726	-0.985000	0.03751	-0.335000	0.08451	-0.224000	0.12420	CTA	G|0.962;T|0.038	0.038	strong		0.557	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909099	G	T	123909099	3	4	22	1	0	0	0	0	1	0	0	0	10902	962	34	4	329	4	OR10G7	11	123909099	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8131	123909099	11097417	6504	11612										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909168	123909168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccagtttcaggatgggcgGtgcgtcacagaagtagtgct	16	8	2	1	rs150532549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909168G>A	ENST00000330487.5	-	1	549	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGATGGGCGGTGCGTCACAG	0.532																																					p.P181S		Atlas-SNP	.											OR10G7,NS,carcinoma,+1,1	OR10G7	103	1	0			c.C541T						scavenged	.						213	204	207					11																	123909168		2201	4297	6498	SO:0001583	missense	390265	exon1			TGGGCGGTGCGTC	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.541C>T	11.37:g.123909168G>A	ENSP00000329689:p.Pro181Ser	Somatic	504	0	0		WXS	Illumina HiSeq	Phase_I	433	14	0.0323326	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136481	0.37728	.	.	ENSG00000182634	ENST00000330487	T	0.00202	8.56	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.00384	0.0012	M	0.64404	1.975	0.09310	N	1	D	0.55605	0.972	D	0.65233	0.933	T	0.48559	-0.9025	10	0.62326	D	0.03	.	8.6875	0.34247	0.1098:0.0:0.8902:0.0	.	181	Q8NGN6	O10G7_HUMAN	S	181	ENSP00000329689:P181S	ENSP00000329689:P181S	P	-	1	0	OR10G7	123414378	0.000000	0.05858	0.355000	0.25773	0.884000	0.51177	0.166000	0.16583	1.826000	0.53198	0.455000	0.32223	CCG	G|0.907;A|0.093	0.093	strong		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909168	G	A	123909168	3	1	22	1	0	0	0	0	1	0	0	0	10902	1261	44	2	398	2	OR10G7	11	123909168	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	69	123909168	11097348	6505	11613										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909441	123909441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctgtggaaggagatagTcctgccgcttggggacacca	15	10	0	1	rs470208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909441T>C	ENST00000330487.5	-	1	276	c.268A>G	c.(268-270)Act>Gct	p.T90A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	90			T -> A (in dbSNP:rs470208).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGGAGATAGTCCTGCCGCTT	0.517													t|||	92	0.0183706	0.0552	0.0086	5008	,	,		22993	0.0		0.0	False		,,,				2504	0.0133				p.T90A		Atlas-SNP	.											OR10G7,right_upper_lobe,carcinoma,+1,1	OR10G7	103	1	0			c.A268G						scavenged	.						220	235	230					11																	123909441		2200	4299	6499	SO:0001583	missense	390265	exon1			AGATAGTCCTGCC	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.268A>G	11.37:g.123909441T>C	ENSP00000329689:p.Thr90Ala	Somatic	843	18	0.0213523		WXS	Illumina HiSeq	Phase_I	630	107	0.169841	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	58	0.026556776556776556	25	0.0508130081300813	5	0.013812154696132596	6	0.01048951048951049	22	0.029023746701846966	C	0	-2.713855	0.00094	.	.	ENSG00000182634	ENST00000330487	T	0.00572	6.49	3.39	0.29	0.15728	GPCR, rhodopsin-like superfamily (1);	0.807151	0.10654	N	0.649576	T	0.00073	0.0002	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	10	0.12430	T	0.62	.	5.2009	0.15264	0.0:0.2811:0.3445:0.3744	rs470208;rs666719;rs12363298;rs60309526	90	Q8NGN6	O10G7_HUMAN	A	90	ENSP00000329689:T90A	ENSP00000329689:T90A	T	-	1	0	OR10G7	123414651	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.288000	0.08377	-0.300000	0.08895	-0.374000	0.07098	ACT	T|0.874;C|0.126	0.126	strong		0.517	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909441	T	C	123909441	3	2	22	1	0	0	0	0	1	0	0	0	10902	1667	58	2	671	2	OR10G7	11	123909441	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	273	123909441	11097075	6506	11614										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909524	123909524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaatgaaggacaggttgGtgaggaagtagtacatgggg	17	3	1	2	rs201246927		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909524G>A	ENST00000330487.5	-	1	193	c.185C>T	c.(184-186)aCc>aTc	p.T62I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACAGGTTGGTGAGGAAGTA	0.547																																					p.T62I		Atlas-SNP	.											OR10G7,NS,carcinoma,+1,1	OR10G7	103	1	0			c.C185T						scavenged	.						21	21	21					11																	123909524		2195	4272	6467	SO:0001583	missense	390265	exon1			AGGTTGGTGAGGA	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.185C>T	11.37:g.123909524G>A	ENSP00000329689:p.Thr62Ile	Somatic	624	0	0		WXS	Illumina HiSeq	Phase_I	468	56	0.119658	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	58	0.026556776556776556	21	0.042682926829268296	17	0.04696132596685083	17	0.02972027972027972	3	0.00395778364116095	G	9.581	1.123605	0.20959	.	.	ENSG00000182634	ENST00000330487	T	0.01092	5.35	3.53	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.649434	0.13528	N	0.381190	T	0.00241	0.0007	L	0.28694	0.88	0.22213	N	0.999283	B	0.06786	0.001	B	0.15052	0.012	T	0.48875	-0.8996	10	0.66056	D	0.02	.	5.9703	0.19349	0.1371:0.3547:0.5082:0.0	.	62	Q8NGN6	O10G7_HUMAN	I	62	ENSP00000329689:T62I	ENSP00000329689:T62I	T	-	2	0	OR10G7	123414734	0.000000	0.05858	0.928000	0.36995	0.900000	0.52787	-0.620000	0.05565	0.261000	0.21753	0.557000	0.71058	ACC	A|1.000;|0.000	1.000	weak		0.547	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909524	G	A	123909524	3	1	22	1	0	0	0	0	1	0	0	0	10902	1261	44	2	754	2	OR10G7	11	123909524	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83	123909524	11096992	6507	11615										
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909627	123909627	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgtaaaccaccaggaagaTtccaaagaggggggcgtcca					rs11219420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909627T>C	ENST00000330487.5	-	1	90	c.82A>G	c.(82-84)Atc>Gtc	p.I28V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	28			I -> V (in dbSNP:rs11219420).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I28V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCAGGAAGATTCCAAAGAGG	0.572													t|||	1598	0.319089	0.174	0.4568	5008	,	,		16316	0.3254		0.4294	False		,,,				2504	0.2975				p.I28V		Atlas-SNP	.											OR10G7,NS,carcinoma,0,1	OR10G7	103	1	1	Substitution - Missense(1)	stomach(1)	c.A82G						PASS	.						89	85	86					11																	123909627		2200	4298	6498	SO:0001583	missense	390265	exon1			GGAAGATTCCAAA	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.82A>G	11.37:g.123909627T>C	ENSP00000329689:p.Ile28Val	Somatic	419	0	0		WXS	Illumina HiSeq	Phase_I	224	110	0.491071	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	714	0.3269230769230769	74	0.15040650406504066	161	0.4447513812154696	202	0.3531468531468531	277	0.3654353562005277	C	2.011	-0.427174	0.04701	.	.	ENSG00000182634	ENST00000330487	T	0.03035	4.07	3.38	-6.76	0.01732	.	0.824866	0.10366	N	0.683403	T	0.00012	0.0000	N	0.01473	-0.845	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.36187	-0.9758	9	0.07990	T	0.79	.	3.721	0.08456	0.0824:0.3449:0.213:0.3597	rs11219420;rs57896133	28	Q8NGN6	O10G7_HUMAN	V	28	ENSP00000329689:I28V	ENSP00000329689:I28V	I	-	1	0	OR10G7	123414837	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.859000	0.00051	-3.501000	0.00151	-2.770000	0.00120	ATC	T|0.681;C|0.319	0.319	strong		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909627	T	C	123909627	3	2	22	1	0	0	0	0	1	0	0	0	10902	1493	52	2	857	2	OR10G7	11	123909627	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	103	123909627	11096889	6508	11616	240	3								
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909637	123909637	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggaagattccaaagagGggggcgtccagccctggggc					rs4936889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909637G>T	ENST00000330487.5	-	1	80	c.72C>A	c.(70-72)ccC>ccA	p.P24P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P24P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTCCAAAGAGGGGGGCGTCCA	0.567																																					p.P24P		Atlas-SNP	.											OR10G7,NS,carcinoma,0,1	OR10G7	103	1	1	Substitution - coding silent(1)	stomach(1)	c.C72A						PASS	.						95	92	93					11																	123909637		2200	4299	6499	SO:0001819	synonymous_variant	390265	exon1			AAAGAGGGGGGCG	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.72C>A	11.37:g.123909637G>T		Somatic	412	0	0		WXS	Illumina HiSeq	Phase_I	228	114	0.5	NM_001004463	Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																			.	.	weak		0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909637	G	T	123909637	2	4	22	1	0	0	0	0	0	0	0	1	10902	1219	43	4		4	OR10G7	11	123909637	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10	123909637	11096879	6509	11617	240	3								
OR10G7	390265	hgsc.bcm.edu	37	chr11	123909638	123909638	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggaagattccaaagaggGgggcgtccagccctggggca					rs148218442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123909638G>A	ENST00000330487.5	-	1	79	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCAAAGAGGGGGGCGTCCAG	0.572													G|||	62	0.0123802	0.0416	0.0101	5008	,	,		16260	0.0		0.0	False		,,,				2504	0.0				p.P24L		Atlas-SNP	.											OR10G7,NS,carcinoma,+1,1	OR10G7	103	1	0			c.C71T						scavenged	.	G	LEU/PRO	70,4330	56.8+/-93.2	0,70,2130	96	92	94		71	-3.2	0	11	dbSNP_134	94	4,8594	3.0+/-9.4	0,4,4295	no	missense	OR10G7	NM_001004463.1	98	0,74,6425	AA,AG,GG		0.0465,1.5909,0.5693	benign	24/312	123909638	74,12924	2200	4299	6499	SO:0001583	missense	390265	exon1			AAGAGGGGGGCGT	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.71C>T	11.37:g.123909638G>A	ENSP00000329689:p.Pro24Leu	Somatic	408	2	0.00490196		WXS	Illumina HiSeq	Phase_I	229	109	0.475983	NM_001004463	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	20	0.009157509157509158	12	0.024390243902439025	4	0.011049723756906077	0	0.0	4	0.005277044854881266	G	0.023	-1.397240	0.01175	0.015909	4.65E-4	ENSG00000182634	ENST00000330487	T	0.00036	8.86	3.38	-3.23	0.05109	.	1.833280	0.02752	N	0.117583	T	0.00039	0.0001	N	0.01096	-1.015	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33954	-0.9848	10	0.02654	T	1	.	10.6967	0.45903	0.7947:0.0:0.2053:0.0	.	24	Q8NGN6	O10G7_HUMAN	L	24	ENSP00000329689:P24L	ENSP00000329689:P24L	P	-	2	0	OR10G7	123414848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.678000	0.05209	-0.661000	0.05345	-0.232000	0.12228	CCC	G|0.992;A|0.008	0.008	strong		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909638	G	A	123909638	3	1	22	1	0	0	0	0	1	0	0	0	10902	1232	43	2	868	2	OR10G7	11	123909638	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	123909638	11096878	6510	11618	240	3								
VWA5A	4013	hgsc.bcm.edu	37	chr11	123989383	123989383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgccccttgagtcctaccGagtacctaggagaggacaag	11	12	0	2	rs35215239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:123989383G>A	ENST00000456829.2	+	6	864	c.613G>A	c.(613-615)Gag>Aag	p.E205K	VWA5A_ENST00000360334.4_Missense_Mutation_p.E205K|VWA5A_ENST00000392748.1_Missense_Mutation_p.E205K|VWA5A_ENST00000361352.5_Missense_Mutation_p.E205K|VWA5A_ENST00000392744.4_Missense_Mutation_p.E221K|VWA5A_ENST00000449321.1_Missense_Mutation_p.E205K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	205			E -> K (in dbSNP:rs35215239).					p.E205*(1)		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						GAGTCCTACCGAGTACCTAGG	0.517													G|||	109	0.0217652	0.0809	0.0029	5008	,	,		20475	0.0		0.0	False		,,,				2504	0.0				p.E205K		Atlas-SNP	.											VWA5A,larynx,carcinoma,0,1	VWA5A	102	1	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)	c.G613A						PASS	.	G	LYS/GLU,LYS/GLU,LYS/GLU	253,4149	145.7+/-180.5	8,237,1956	90	82	85		613,613,613	-2.8	0	11	dbSNP_126	85	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense,missense	VWA5A	NM_001130142.1,NM_014622.4,NM_198315.2	56,56,56	8,240,6252	AA,AG,GG		0.0349,5.7474,1.9692	benign,benign,benign	205/787,205/787,205/416	123989383	256,12744	2201	4299	6500	SO:0001583	missense	4013	exon5			CCTACCGAGTACC	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.613G>A	11.37:g.123989383G>A	ENSP00000407726:p.Glu205Lys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	78	28	0.358974	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	40	0.018315018315018316	39	0.07926829268292683	1	0.0027624309392265192	0	0.0	0	0.0	G	7.535	0.659528	0.14645	0.057474	3.49E-4	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22743	3.78;1.94;3.78;2.28;2.28;2.27	5.6	-2.84	0.05751	.	0.832622	0.11287	N	0.579757	T	0.00608	0.0020	L	0.52364	1.645	0.09310	N	1	B;B	0.31859	0.091;0.343	B;B	0.24269	0.023;0.052	T	0.30736	-0.9968	10	0.08599	T	0.76	-11.1706	6.7445	0.23454	0.2766:0.318:0.4054:0.0	rs35215239	221;205	B4DHS6;O00534	.;VMA5A_HUMAN	K	205;205;205;205;205;205;205;221	ENSP00000407726:E205K;ENSP00000353485:E205K;ENSP00000376504:E205K;ENSP00000355070:E205K;ENSP00000404683:E205K;ENSP00000376501:E221K	ENSP00000353485:E205K	E	+	1	0	VWA5A	123494593	0.001000	0.12720	0.003000	0.11579	0.055000	0.15305	-0.395000	0.07287	-0.184000	0.10567	-0.315000	0.08773	GAG	G|0.978;A|0.022	0.022	strong		0.517	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		A	123989383	G	A	123989383	3	1	22	1	0	0	0	0	1	0	0	0	17239	1059	37	1	627	1	VWA5A	11	123989383	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79745	123989383	11017133	6511	11619										
OR8G2	0	hgsc.bcm.edu	37	chr11	124095916	124095916	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggatctacaattcacacCggctttatgttgagactctt	7	10	3	1	rs11825213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124095916C>T								OR10D3 (38964 upstream) : OR8G1 (24506 downstream)																							CAATTCACACCGGCTTTATGT	0.453													c|||	364	0.0726837	0.1921	0.062	5008	,	,		22953	0.0377		0.002	False		,,,				2504	0.0276				p.T173T		Atlas-SNP	.											.	.	.	.	0			c.C519T						PASS	.	C		693,3405		52,589,1408	284	294	291		519	-5.5	0	11	dbSNP_120	291	8,8480		0,8,4236	no	coding-synonymous	OR8G2	NM_001007249.1		52,597,5644	TT,TC,CC		0.0943,16.9107,5.5697		173/305	124095916	701,11885	2049	4244	6293	SO:0001628	intergenic_variant	26492	exon1			TCACACCGGCTTT																													11.37:g.124095916C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	167	66	0.39521	NM_001007249		Silent	SNP		37																																																																																				C|0.927;T|0.073	0.073	strong	0	0.453									T	124095916	C	T	124095916	1	4	22	0	1	0	0	0	0	0	0	0	11235	639	23	1		1	OR8G2	11	124095916	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106533	124095916	10910600	6512	11620										
OR8G5	219865	hgsc.bcm.edu	37	chr11	124134743	124134743	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatcatatataaacaaggGatcactttcctacaaaagga	6	7	2	1	rs2466637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124134743G>A	ENST00000524943.2	+	1	21	c.21G>A	c.(19-21)ggG>ggA	p.G7G	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		ATAAACAAGGGATCACTTTCC	0.323													g|||	2195	0.438299	0.292	0.5591	5008	,	,		17989	0.5823		0.5527	False		,,,				2504	0.2843				p.G7G	Ovarian(169;523 1969 8640 31295 51256)	Atlas-SNP	.											.	.	.	.	0			c.G21A						PASS	.	G		1236,2412		207,822,795	29	27	28		21	-6.8	0	11	dbSNP_100	28	4455,3701		1234,1987,857	no	coding-synonymous	OR8G5	NM_001005198.1		1441,2809,1652	AA,AG,GG		45.3776,33.8816,48.2125		7/347	124134743	5691,6113	1824	4078	5902	SO:0001819	synonymous_variant	219865	exon1			ACAAGGGATCACT	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.21G>A	11.37:g.124134743G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_001005198	B2RND3|Q6IEU6	Silent	SNP	ENST00000524943.2	37																																																																																				G|0.522;A|0.478	0.478	strong		0.323	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124134743	G	A	124134743	2	1	22	1	0	0	0	0	0	0	0	1	11236	1161	41	2		2	OR8G5	11	124134743	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38827	124134743	10871773	6513	11621										
OR8G5	219865	hgsc.bcm.edu	37	chr11	124135009	124135009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcacacacctatgtactGtttcctcagcagtctgtcct	6	15	2	0	rs2512168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124135009G>A	ENST00000524943.2	+	1	287	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CCTATGTACTGTTTCCTCAGC	0.483													a|||	2196	0.438498	0.292	0.5591	5008	,	,		21549	0.5833		0.5527	False		,,,				2504	0.2843				p.C96Y	Ovarian(169;523 1969 8640 31295 51256)	Atlas-SNP	.											.	.	.	.	0			c.G287A						PASS	.	A	TYR/CYS	1386,2974		230,926,1024	135	116	123		287	-5	0.5	11	dbSNP_100	123	4624,3936		1275,2074,931	no	missense	OR8G5	NM_001005198.1	194	1505,3000,1955	AA,AG,GG		45.9813,31.789,46.517		96/347	124135009	6010,6910	2180	4280	6460	SO:0001583	missense	219865	exon1			TGTACTGTTTCCT	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.287G>A	11.37:g.124135009G>A	ENSP00000477014:p.Cys96Tyr	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	169	168	0.994083	NM_001005198	B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37																																																																																				G|0.507;A|0.493	0.493	strong		0.483	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124135009	G	A	124135009	3	1	22	1	0	0	0	0	1	0	0	0	11236	1377	48	2	289	2	OR8G5	11	124135009	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	266	124135009	10871507	6514	11622										
OR8G5	219865	hgsc.bcm.edu	37	chr11	124135143	124135143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagctctacttcttcctcGtttttgctattgcagagtgt	7	11	3	1	rs200012972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124135143G>A	ENST00000524943.2	+	1	421	c.421G>A	c.(421-423)Gtt>Att	p.V141I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CTTCTTCCTCGTTTTTGCTAT	0.463													g|||	27	0.00539137	0.0197	0.0014	5008	,	,		23436	0.0		0.0	False		,,,				2504	0.0				p.V141I	Ovarian(169;523 1969 8640 31295 51256)	Atlas-SNP	.											.	.	.	.	0			c.G421A						PASS	.	G	ILE/VAL	38,4260		0,38,2111	165	155	158		421	-7.2	0	11		158	0,8562		0,0,4281	no	missense	OR8G5	NM_001005198.1	29	0,38,6392	AA,AG,GG		0.0,0.8841,0.2955		141/347	124135143	38,12822	2149	4281	6430	SO:0001583	missense	219865	exon1			TTCCTCGTTTTTG	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.421G>A	11.37:g.124135143G>A	ENSP00000477014:p.Val141Ile	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	258	127	0.492248	NM_001005198	B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37																																																																																				.	.	weak		0.463	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124135143	G	A	124135143	3	1	22	1	0	0	0	0	1	0	0	0	11236	1145	40	1	423	1	OR8G5	11	124135143	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	134	124135143	10871373	6515	11623										
OR8G5	219865	hgsc.bcm.edu	37	chr11	124135438	124135438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgattttaatctttagtgGaattaacatccttgtcccca	5	9	1	1	rs2512167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124135438G>A	ENST00000524943.2	+	1	716	c.716G>A	c.(715-717)gGa>gAa	p.G239E	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		ATCTTTAGTGGAATTAACATC	0.413													g|||	2196	0.438498	0.292	0.5591	5008	,	,		21705	0.5833		0.5527	False		,,,				2504	0.2843				p.G239E	Ovarian(169;523 1969 8640 31295 51256)	Atlas-SNP	.											.	.	.	.	0			c.G716A						PASS	.	G	GLU/GLY	1372,2772		230,912,930	139	139	139		716	-3.2	0	11	dbSNP_100	139	4623,3849		1268,2087,881	yes	missense	OR8G5	NM_001005198.1	98	1498,2999,1811	AA,AG,GG		45.432,33.1081,47.519		239/347	124135438	5995,6621	2072	4236	6308	SO:0001583	missense	219865	exon1			TTAGTGGAATTAA	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.716G>A	11.37:g.124135438G>A	ENSP00000477014:p.Gly239Glu	Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	238	238	1	NM_001005198	B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37																																																																																				G|0.522;N|0.001	.	strong		0.413	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124135438	G	A	124135438	3	1	22	1	0	0	0	0	1	0	0	0	11236	1174	41	2	718	2	OR8G5	11	124135438	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	295	124135438	10871078	6516	11624										
OR8G5	219865	hgsc.bcm.edu	37	chr11	124135481	124135481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccatcctcagctcttaCatcttcatcattgccagcat	4	15	5	1	rs2466701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124135481C>T	ENST00000524943.2	+	1	759	c.759C>T	c.(757-759)taC>taT	p.Y253Y	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		TCAGCTCTTACATCTTCATCA	0.458													c|||	2196	0.438498	0.292	0.5591	5008	,	,		21111	0.5833		0.5527	False		,,,				2504	0.2843				p.Y253Y	Ovarian(169;523 1969 8640 31295 51256)	Atlas-SNP	.											.	.	.	.	0			c.C759T						PASS	.	C		1450,2878		253,944,967	134	132	133		759	-3.9	0	11	dbSNP_100	133	4688,3878		1298,2092,893	no	coding-synonymous	OR8G5	NM_001005198.1		1551,3036,1860	TT,TC,CC		45.272,33.5028,47.6035		253/347	124135481	6138,6756	2164	4283	6447	SO:0001819	synonymous_variant	219865	exon1			CTCTTACATCTTC	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.759C>T	11.37:g.124135481C>T		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	268	268	1	NM_001005198	B2RND3|Q6IEU6	Silent	SNP	ENST00000524943.2	37																																																																																				C|0.521;T|0.479	0.479	strong		0.458	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		T	124135481	C	T	124135481	2	4	22	1	0	0	0	0	0	0	0	1	11236	489	17	2		2	OR8G5	11	124135481	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43	124135481	10871035	6517	11625										
OR8D1	283159	hgsc.bcm.edu	37	chr11	124179902	124179902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaatacatgaaggtaatgGacccaaagaagatcaccaca	8	8	1	4	rs57552127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124179902G>A	ENST00000357821.2	-	1	831	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GAAGGTAATGGACCCAAAGAA	0.517													G|||	558	0.111422	0.3313	0.0793	5008	,	,		17923	0.0357		0.002	False		,,,				2504	0.0276				p.S254F		Atlas-SNP	.											OR8D1,NS,carcinoma,+1,1	OR8D1	53	1	0			c.C761T						PASS	.	G	PHE/SER	1305,3097	441.2+/-346.3	182,941,1078	97	89	91		761	3.2	0.1	11	dbSNP_129	91	11,8587	7.1+/-27.0	0,11,4288	yes	missense	OR8D1	NM_001002917.1	155	182,952,5366	AA,AG,GG		0.1279,29.6456,10.1231	probably-damaging	254/309	124179902	1316,11684	2201	4299	6500	SO:0001583	missense	283159	exon1			GTAATGGACCCAA	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.761C>T	11.37:g.124179902G>A	ENSP00000350474:p.Ser254Phe	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	122	43	0.352459	NM_001002917	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	CCDS31706.1	218	0.09981684981684982	171	0.3475609756097561	24	0.06629834254143646	21	0.03671328671328671	2	0.002638522427440633	g	9.039	0.989200	0.18966	0.296456	0.001279	ENSG00000196341	ENST00000357821	T	0.00179	8.61	4.08	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002868	T	0.00012	0.0000	M	0.75085	2.285	0.80722	P	0.0	D	0.89917	1.0	D	0.83275	0.996	T	0.54549	-0.8277	9	0.87932	D	0	.	11.4812	0.50326	0.0896:0.0:0.9104:0.0	rs57552127	254	Q8WZ84	OR8D1_HUMAN	F	254	ENSP00000350474:S254F	ENSP00000350474:S254F	S	-	2	0	OR8D1	123685112	0.003000	0.15002	0.109000	0.21407	0.002000	0.02628	1.325000	0.33724	0.949000	0.37715	-0.363000	0.07495	TCC	G|0.906;A|0.094	0.094	strong		0.517	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		A	124179902	G	A	124179902	3	1	22	1	0	0	0	0	1	0	0	0	11231	1174	41	2	168	2	OR8D1	11	124179902	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44421	124179902	10826614	6518	11626										
OR8D2	283160	hgsc.bcm.edu	37	chr11	124190036	124190036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcagttgaagttctgggcGttgtgtcaagcctgccagga	15	8	2	1	rs61735123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124190036G>A	ENST00000357438.2	-	1	148	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	20						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)		AGTTCTGGGCGTTGTGTCAAG	0.438													A|||	134	0.0267572	0.093	0.013	5008	,	,		17109	0.001		0.0	False		,,,				2504	0.001				p.R20C		Atlas-SNP	.											.	OR8D2	65	.	0			c.C58T						PASS	.	A	CYS/ARG	378,4022	188.5+/-214.9	16,346,1838	67	67	67		58	-6.8	0	11	dbSNP_129	67	5,8593	4.3+/-15.6	0,5,4294	yes	missense	OR8D2	NM_001002918.1	180	16,351,6132	AA,AG,GG		0.0582,8.5909,2.9466	benign	20/312	124190036	383,12615	2200	4299	6499	SO:0001583	missense	283160	exon1			CTGGGCGTTGTGT	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.58C>T	11.37:g.124190036G>A	ENSP00000350022:p.Arg20Cys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	66	28	0.424242	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	33	0.01510989010989011	28	0.056910569105691054	5	0.013812154696132596	0	0.0	0	0.0	g	6.776	0.512072	0.12944	0.085909	5.82E-4	ENSG00000197263	ENST00000357438	T	0.00438	7.42	3.42	-6.85	0.01681	.	1.442220	0.04657	N	0.408191	T	0.00012	0.0000	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35943	-0.9768	10	0.72032	D	0.01	.	6.2183	0.20667	0.4743:0.0:0.1929:0.3328	.	20	Q9GZM6	OR8D2_HUMAN	C	20	ENSP00000350022:R20C	ENSP00000350022:R20C	R	-	1	0	OR8D2	123695246	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-2.227000	0.01210	-3.085000	0.00249	-0.684000	0.03749	CGC	G|0.972;A|0.028	0.028	strong		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		A	124190036	G	A	124190036	3	1	22	1	0	0	0	0	1	0	0	0	11232	1145	40	1	880	1	OR8D2	11	124190036	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10134	124190036	10816480	6519	11627										
OR8B2	26595	hgsc.bcm.edu	37	chr11	124253042	124253042	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taacagagatcaatgaaggaGagattgaagaggaaatagta	12	2	1	5	rs142893914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124253042G>A	ENST00000375013.2	-	1	216	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAATGAAGGAGAGATTGAAGA	0.398													g|||	90	0.0179712	0.0605	0.0115	5008	,	,		22840	0.0		0.002	False		,,,				2504	0.0				p.L66L		Atlas-SNP	.											.	OR8B2	42	.	0			c.C198T						PASS	.	G		271,4131	153.7+/-187.2	8,255,1938	154	143	147		198	-8.4	0	11	dbSNP_134	147	5,8587	4.3+/-15.6	0,5,4291	no	coding-synonymous	OR8B2	NM_001005468.1		8,260,6229	AA,AG,GG		0.0582,6.1563,2.1241		66/314	124253042	276,12718	2201	4296	6497	SO:0001819	synonymous_variant	26595	exon1			GAAGGAGAGATTG	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.198C>T	11.37:g.124253042G>A		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	175	87	0.497143	NM_001005468	Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																			.	.	weak		0.398	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		A	124253042	G	A	124253042	2	1	22	1	0	0	0	0	0	0	0	1	11227	929	33	2		2	OR8B2	11	124253042	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63006	124253042	10753474	6520	11628										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	8	4	1	4	rs142812088		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																					p.F107F		Atlas-SNP	.											OR8B3,NS,carcinoma,0,1	OR8B3	36	1	0			c.T321C						scavenged	.						78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			GATGACAAAAAAG	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G		Somatic	288	13	0.0451389		WXS	Illumina HiSeq	Phase_I	277	19	0.0685921	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	22	1	0	0	0	0	0	0	0	1	11228	127	5	2		2	OR8B3	11	124266927	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13885	124266927	10739589	6521	11629										
OR8B4	283162	hgsc.bcm.edu	37	chr11	124294703	124294703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaaagagggagctggagcTctggctgttctgataatccc	14	8	2	2	rs10750270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124294703T>C	ENST00000356130.3	-	1	86	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	22			E -> G (in dbSNP:rs10750270).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAGCTGGAGCTCTGGCTGTTC	0.483													T|||	1735	0.346446	0.2874	0.3242	5008	,	,		19677	0.5952		0.3121	False		,,,				2504	0.2209				p.E22G		Atlas-SNP	.											.	OR8B4	60	.	0			c.A65G						PASS	.	T	GLY/GLU	1209,3193	413.0+/-336.3	176,857,1168	53	52	52		65	2.2	0	11	dbSNP_120	52	2675,5923	416.8+/-352.2	419,1837,2043	yes	missense	OR8B4	NM_001005196.1	98	595,2694,3211	CC,CT,TT		31.1119,27.4648,29.8769	benign	22/310	124294703	3884,9116	2201	4299	6500	SO:0001583	missense	283162	exon1			TGGAGCTCTGGCT	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.65A>G	11.37:g.124294703T>C	ENSP00000348449:p.Glu22Gly	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	52	28	0.538462	NM_001005196	B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	832	0.38095238095238093	123	0.25	125	0.3453038674033149	352	0.6153846153846154	232	0.30606860158311344	t	2.515	-0.312118	0.05422	0.274648	0.311119	ENSG00000198657	ENST00000356130	T	0.00444	7.4	4.62	2.16	0.27623	.	0.264994	0.26899	N	0.021931	T	0.00012	0.0000	L	0.39467	1.215	0.80722	P	0.0	B	0.12630	0.006	B	0.15052	0.012	T	0.02743	-1.1116	9	0.37606	T	0.19	.	11.1631	0.48526	0.0:0.0:0.2894:0.7106	rs10750270;rs52830364;rs58760348;rs10750270	22	Q96RC9	OR8B4_HUMAN	G	22	ENSP00000348449:E22G	ENSP00000348449:E22G	E	-	2	0	OR8B4	123799913	0.000000	0.05858	0.014000	0.15608	0.159000	0.22180	0.167000	0.16602	0.337000	0.23665	0.533000	0.62120	GAG	T|0.675;C|0.325	0.325	strong		0.483	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		C	124294703	T	C	124294703	3	2	22	1	0	0	0	0	1	0	0	0	11229	1551	54	3	866	3	OR8B4	11	124294703	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27776	124294703	10711813	6522	11630										
OR8B12	219858	hgsc.bcm.edu	37	chr11	124413049	124413051	+	In_Frame_Del	DEL	AGA	AGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgacaaggttgtcagcacAgaaggtcaggttcattatgc					rs201026337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124413049_124413051delAGA	ENST00000306842.2	-	1	524_526	c.500_502delTCT	c.(499-504)ttctgt>tgt	p.F167del		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	167						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTGTCAGCACAGAAGGTCAGGTT	0.493														86	0.0171725	0.0628	0.0043	5008	,	,		23161	0.0		0.0	False		,,,				2504	0.0				p.167_168del		Pindel,Atlas-Indel	.											.	OR8B12	66	.	0			c.501_503del						PASS	.			187,4077		2,183,1947						3.9	1			135	4,8250		0,4,4123	no	coding	OR8B12	NM_001005195.1		2,187,6070	A1A1,A1R,RR		0.0485,4.3856,1.5258				191,12327				SO:0001651	inframe_deletion	219858	exon1			.		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.500_502delTCT	11.37:g.124413049_124413051delAGA	ENSP00000307159:p.Phe167del	Somatic	125	.	.		WXS	Illumina HiSeq	Phase_I	108	45	0.417	NM_001005195	B2RNF6|Q6IEW8|Q96RC7	In_Frame_Del	DEL	ENST00000306842.2	37	CCDS31711.1																																																																																			AGA|0.983;-|0.017	0.017	strong		0.493	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			-	124413051	AGA	-	124413049	7	5	22	1	0	1	0	1	0	0	0	0	11226	188	7	0	432	0	OR8B12	11	124413049	In_Frame_Del	DEL	AGA	TCGA-G8-6324-01A-11D-2210-10	118346	124413049	10593467	6523	11631										
OR8B12	219858	hgsc.bcm.edu	37	chr11	124413491	124413491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagggggatccgcagtccCggctggtgggttaagccttc	16	10	0	1	rs61746453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124413491C>T	ENST00000306842.2	-	1	84	c.60G>A	c.(58-60)ccG>ccA	p.P20P		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	20						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TCCGCAGTCCCGGCTGGTGGG	0.542													C|||	139	0.0277556	0.1021	0.0058	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0				p.P20P		Atlas-SNP	.											OR8B12,bladder,carcinoma,-1,1	OR8B12	66	1	0			c.G60A						PASS	.	C		321,4081	155.5+/-188.7	7,307,1887	47	51	49		60	-5.8	0	11	dbSNP_129	49	16,8582	10.5+/-38.8	0,16,4283	no	coding-synonymous	OR8B12	NM_001005195.1		7,323,6170	TT,TC,CC		0.1861,7.2921,2.5923		20/311	124413491	337,12663	2201	4299	6500	SO:0001819	synonymous_variant	219858	exon1			CAGTCCCGGCTGG		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.60G>A	11.37:g.124413491C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_001005195	B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	CCDS31711.1																																																																																			C|0.974;T|0.026	0.026	strong		0.542	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			T	124413491	C	T	124413491	2	4	22	1	0	0	0	0	0	0	0	1	11226	639	23	1		1	OR8B12	11	124413491	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	442	124413491	10593025	6524	11632										
SIAE	54414	hgsc.bcm.edu	37	chr11	124506967	124506967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttatattcacaaggccaCgtggtccaagcatagcggag	11	10	1	0	rs7941327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124506967C>T	ENST00000263593.3	-	10	1624	c.1452G>A	c.(1450-1452)acG>acA	p.T484T	SIAE_ENST00000545756.1_Silent_p.T449T|RNA5SP352_ENST00000363408.1_RNA			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	484					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CACAAGGCCACGTGGTCCAAG	0.557													T|||	771	0.153954	0.4395	0.0476	5008	,	,		18247	0.1022		0.0199	False		,,,				2504	0.0348				p.T484T		Atlas-SNP	.											.	SIAE	37	.	0			c.G1452A						PASS	.	T	,	1643,2759	659.2+/-400.5	312,1019,870	142	129	133		1347,1452	-9.4	0	11	dbSNP_116	133	186,8412	810.9+/-407.1	1,184,4114	no	coding-synonymous,coding-synonymous	SIAE	NM_001199922.1,NM_170601.4	,	313,1203,4984	TT,TC,CC		2.1633,37.3239,14.0692	,	449/489,484/524	124506967	1829,11171	2201	4299	6500	SO:0001819	synonymous_variant	54414	exon10			AGGCCACGTGGTC	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1452G>A	11.37:g.124506967C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	175	97	0.554286	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	CCDS8449.1																																																																																			C|0.852;T|0.148	0.148	strong		0.557	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		T	124506967	C	T	124506967	2	4	22	1	0	0	0	0	0	0	0	1	14298	523	19	1		1	SIAE	11	124506967	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93476	124506967	10499549	6525	11633										
SIAE	54414	hgsc.bcm.edu	37	chr11	124524627	124524627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcttgaatgggagagacAgagaggatgcggacagactg	16	6	1	4	rs1942663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124524627A>G	ENST00000263593.3	-	4	640	c.468T>C	c.(466-468)tcT>tcC	p.S156S	SIAE_ENST00000545756.1_Silent_p.S121S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	156					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGGGAGAGACAGAGAGGATGC	0.488													G|||	1035	0.206669	0.6278	0.0706	5008	,	,		21719	0.1022		0.0209	False		,,,				2504	0.0327				p.S156S		Atlas-SNP	.											SIAE,scalp,malignant_melanoma,-1,2	SIAE	37	2	0			c.T468C						scavenged	.	G	,	2276,2126	578.5+/-384.7	604,1068,529	154	150	151		363,468	-11.4	0	11	dbSNP_92	151	201,8397	810.4+/-407.1	1,199,4099	no	coding-synonymous,coding-synonymous	SIAE	NM_001199922.1,NM_170601.4	,	605,1267,4628	GG,GA,AA		2.3378,48.2962,19.0538	,	121/489,156/524	124524627	2477,10523	2201	4299	6500	SO:0001819	synonymous_variant	54414	exon4			AGAGACAGAGAGG	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.468T>C	11.37:g.124524627A>G		Somatic	72	1	0.0138889		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	CCDS8449.1																																																																																			A|0.804;G|0.196	0.196	strong		0.488	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		G	124524627	A	G	124524627	2	3	22	1	0	0	0	0	0	0	0	1	14298	175	7	3		3	SIAE	11	124524627	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17660	124524627	10481889	6526	11634										
SIAE	54414	hgsc.bcm.edu	37	chr11	124539273	124539273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctttcacactggtcactTtcttcatgatggtttcctga	6	11	4	2	rs12282107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124539273T>C	ENST00000263593.3	-	2	384	c.212A>G	c.(211-213)aAa>aGa	p.K71R	SIAE_ENST00000545756.1_Missense_Mutation_p.K36R|SIAE_ENST00000525730.1_5'Flank			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	71			K -> R (in dbSNP:rs12282107). {ECO:0000269|PubMed:20555325}.		carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		ACTGGTCACTTTCTTCATGAT	0.532											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	523	0.104433	0.2769	0.0231	5008	,	,		19951	0.1032		0.002	False		,,,				2504	0.0358				p.K71R		Atlas-SNP	.											.	SIAE	37	.	0			c.A212G						PASS	.	T	ARG/LYS,ARG/LYS	973,3429	367.1+/-318.1	103,767,1331	241	189	207		107,212	4.3	1	11	dbSNP_120	207	17,8581	11.9+/-42.8	0,17,4282	yes	missense,missense	SIAE	NM_001199922.1,NM_170601.4	26,26	103,784,5613	CC,CT,TT		0.1977,22.1036,7.6154	possibly-damaging,possibly-damaging	36/489,71/524	124539273	990,12010	2201	4299	6500	SO:0001583	missense	54414	exon2			GTCACTTTCTTCA	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.212A>G	11.37:g.124539273T>C	ENSP00000263593:p.Lys71Arg	Somatic	172	0	0	1535	WXS	Illumina HiSeq	Phase_I	152	97	0.638158	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	198	0.09065934065934066	116	0.23577235772357724	9	0.024861878453038673	72	0.1258741258741259	1	0.0013192612137203166	T	14.31	2.497558	0.44455	0.221036	0.001977	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.84516	-1.86;-1.83	5.4	4.28	0.50868	.	0.312791	0.34531	N	0.003890	T	0.00109	0.0003	L	0.60904	1.88	0.28952	P	0.890324	B;B	0.25441	0.126;0.077	B;B	0.34138	0.176;0.053	T	0.09574	-1.0668	9	0.34782	T	0.22	.	10.1847	0.42991	0.0:0.0787:0.0:0.9213	rs12282107;rs52803899;rs56529430;rs56940230;rs12282107	36;71	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	R	71;36	ENSP00000263593:K71R;ENSP00000437877:K36R	ENSP00000263593:K71R	K	-	2	0	SIAE	124044483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.232000	0.51302	1.082000	0.41137	0.533000	0.62120	AAA	T|0.906;C|0.094	0.094	strong		0.532	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		C	124539273	T	C	124539273	3	2	22	1	0	0	0	0	1	0	0	0	14298	1841	64	2	1395	2	SIAE	11	124539273	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14646	124539273	10467243	6527	11635										
ROBO4	54538	hgsc.bcm.edu	37	chr11	124756406	124756406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctctagaccgaaaccaaaGctatccacagccactgccag	8	15	1	1	rs7104934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124756406G>A	ENST00000306534.3	-	16	3233	c.2748C>T	c.(2746-2748)agC>agT	p.S916S	ROBO4_ENST00000533054.1_Silent_p.S771S|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	916					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGAAACCAAAGCTATCCACAG	0.582													G|||	1173	0.234225	0.4811	0.121	5008	,	,		17633	0.0883		0.163	False		,,,				2504	0.2045				p.S916S		Atlas-SNP	.											.	ROBO4	130	.	0			c.C2748T						PASS	.	G		1775,2627	507.9+/-366.8	350,1075,776	46	51	49		2748	3.8	1	11	dbSNP_116	49	1179,7419	230.4+/-264.8	78,1023,3198	no	coding-synonymous	ROBO4	NM_019055.5		428,2098,3974	AA,AG,GG		13.7125,40.3226,22.7231		916/1008	124756406	2954,10046	2201	4299	6500	SO:0001819	synonymous_variant	54538	exon16			ACCAAAGCTATCC	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2748C>T	11.37:g.124756406G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	121	71	0.586777	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																			G|0.783;A|0.217	0.217	strong		0.582	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		A	124756406	G	A	124756406	2	1	22	1	0	0	0	0	0	0	0	1	13516	962	34	2		2	ROBO4	11	124756406	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	217133	124756406	10250110	6528	11636										
ROBO4	54538	hgsc.bcm.edu	37	chr11	124764176	124764176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgcacgcagtaggagccTggcatatgggtggcgatttc	14	9	0	0	rs11820142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124764176T>C	ENST00000306534.3	-	8	1724	c.1239A>G	c.(1237-1239)ccA>ccG	p.P413P	ROBO4_ENST00000533054.1_Silent_p.P268P|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	413	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTAGGAGCCTGGCATATGGG	0.597													T|||	125	0.0249601	0.0893	0.0086	5008	,	,		3618	0.0		0.001	False		,,,				2504	0.0				p.P413P		Atlas-SNP	.											.	ROBO4	130	.	0			c.A1239G						PASS	.	T		344,4058	179.4+/-207.9	9,326,1866	111	87	95		1239	1.1	1	11	dbSNP_120	95	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	ROBO4	NM_019055.5		9,328,6163	CC,CT,TT		0.0233,7.8146,2.6615		413/1008	124764176	346,12654	2201	4299	6500	SO:0001819	synonymous_variant	54538	exon8			GGAGCCTGGCATA	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1239A>G	11.37:g.124764176T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	90	38	0.422222	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																			T|0.971;C|0.029	0.029	strong		0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		C	124764176	T	C	124764176	2	2	22	1	0	0	0	0	0	0	0	1	13516	1567	55	3		3	ROBO4	11	124764176	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7770	124764176	10242340	6529	11637										
ROBO4	54538	hgsc.bcm.edu	37	chr11	124765511	124765511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgcccacggagctcccTggcctcccggggcagtctgg	13	18	2	0	rs60888551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124765511T>G	ENST00000306534.3	-	6	1363	c.878A>C	c.(877-879)cAg>cCg	p.Q293P	ROBO4_ENST00000533054.1_Missense_Mutation_p.Q148P|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	293	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGAGCTCCCTGGCCTCCCGG	0.657													T|||	366	0.0730831	0.2557	0.0202	5008	,	,		15539	0.0		0.0129	False		,,,				2504	0.001				p.Q293P		Atlas-SNP	.											.	ROBO4	130	.	0			c.A878C						PASS	.	T	PRO/GLN	667,3699		42,583,1558	34	43	40		878	0.9	0.6	11	dbSNP_129	40	44,8504		1,42,4231	yes	missense	ROBO4	NM_019055.5	76	43,625,5789	GG,GT,TT		0.5147,15.2771,5.5057	benign	293/1008	124765511	711,12203	2183	4274	6457	SO:0001583	missense	54538	exon6			GCTCCCTGGCCTC	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.878A>C	11.37:g.124765511T>G	ENSP00000304945:p.Gln293Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	93	31	0.333333	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	127	0.05815018315018315	108	0.21951219512195122	10	0.027624309392265192	0	0.0	9	0.011873350923482849	T	7.456	0.643746	0.14451	0.152771	0.005147	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64438	-0.1;0.26	4.72	0.925	0.19424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.438357	0.17070	N	0.188195	T	0.00039	0.0001	L	0.29908	0.895	0.48341	P	3.670000000000062E-4	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.002	T	0.06303	-1.0834	9	0.30078	T	0.28	.	5.9357	0.19165	0.0:0.0891:0.3409:0.57	rs60888551	183;293	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	P	293;183;148	ENSP00000304945:Q293P;ENSP00000437129:Q148P	ENSP00000304945:Q293P	Q	-	2	0	ROBO4	124270721	0.108000	0.22018	0.642000	0.29436	0.276000	0.26787	0.391000	0.20784	0.293000	0.22520	0.459000	0.35465	CAG	T|0.952;G|0.048	0.048	strong		0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		G	124765511	T	G	124765511	3	3	22	1	0	0	0	0	1	0	0	0	13516	1580	55	5	2197	5	ROBO4	11	124765511	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1335	124765511	10241005	6530	11638										
ROBO4	54538	hgsc.bcm.edu	37	chr11	124766128	124766128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggctgcgcggctctccctAtgtcctgcgctgttggtggc	15	14	1	0	rs4078313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124766128A>G	ENST00000306534.3	-	4	1130	c.645T>C	c.(643-645)caT>caC	p.H215H	ROBO4_ENST00000533054.1_Silent_p.H70H|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	215	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTCTCCCTATGTCCTGCGC	0.627													G|||	2483	0.495807	0.8162	0.2853	5008	,	,		16460	0.4534		0.334	False		,,,				2504	0.4223				p.H215H		Atlas-SNP	.											.	ROBO4	130	.	0			c.T645C						PASS	.	G		3161,1241	427.4+/-341.5	1151,859,191	85	84	84		645	0.2	0	11	dbSNP_108	84	2684,5914	684.3+/-404.0	433,1818,2048	no	coding-synonymous	ROBO4	NM_019055.5		1584,2677,2239	GG,GA,AA		31.2166,28.1917,44.9615		215/1008	124766128	5845,7155	2201	4299	6500	SO:0001819	synonymous_variant	54538	exon4			CTCCCTATGTCCT	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.645T>C	11.37:g.124766128A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	125	45	0.36	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																			A|0.539;G|0.461	0.461	strong		0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		G	124766128	A	G	124766128	2	3	22	1	0	0	0	0	0	0	0	1	13516	446	16	2		2	ROBO4	11	124766128	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	617	124766128	10240388	6531	11639										
ROBO4	54538	hgsc.bcm.edu	37	chr11	124767067	124767067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtggctggcctgaggctTggcagctcatcctggcaggg	18	10	1	1	rs59648931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124767067T>C	ENST00000306534.3	-	2	646	c.161A>G	c.(160-162)cAa>cGa	p.Q54R	ROBO4_ENST00000533054.1_Intron|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	54	Ig-like C2-type 1.		Q -> R (in dbSNP:rs59648931).		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCTGAGGCTTGGCAGCTCAT	0.677													C|||	1926	0.384585	0.646	0.2176	5008	,	,		16532	0.378		0.2555	False		,,,				2504	0.2894				p.Q54R		Atlas-SNP	.											.	ROBO4	130	.	0			c.A161G						PASS	.	C	ARG/GLN	2473,1929		709,1055,437	26	24	24		161	0.1	0.4	11	dbSNP_129	24	1992,6604		262,1468,2568	yes	missense	ROBO4	NM_019055.5	43	971,2523,3005	CC,CT,TT		23.1736,43.821,34.3514	benign	54/1008	124767067	4465,8533	2201	4298	6499	SO:0001583	missense	54538	exon2			GAGGCTTGGCAGC	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.161A>G	11.37:g.124767067T>C	ENSP00000304945:p.Gln54Arg	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	143	59	0.412587	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	787	0.36034798534798534	300	0.6097560975609756	70	0.19337016574585636	228	0.3986013986013986	189	0.24934036939313983	C	3.293	-0.144625	0.06627	0.56179	0.231736	ENSG00000154133	ENST00000306534	T	0.67171	-0.25	5.29	0.134	0.14771	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.502444	0.14893	N	0.292246	T	0.00012	0.0000	N	0.17901	0.54	0.44261	P	0.0028850000000000264	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	9	0.07990	T	0.79	.	10.1259	0.42649	0.0:0.5542:0.0:0.4458	rs59648931	54	Q8WZ75	ROBO4_HUMAN	R	54	ENSP00000304945:Q54R	ENSP00000304945:Q54R	Q	-	2	0	ROBO4	124272277	0.000000	0.05858	0.436000	0.26797	0.934000	0.57294	-0.519000	0.06260	-0.125000	0.11703	-0.215000	0.12644	CAA	T|0.646;C|0.354	0.354	strong		0.677	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		C	124767067	T	C	124767067	3	2	22	1	0	0	0	0	1	0	0	0	13516	1812	63	2	2930	2	ROBO4	11	124767067	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	939	124767067	10239449	6532	11640										
HEPACAM	220296	hgsc.bcm.edu	37	chr11	124794763	124794763	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagagtcggatacggtcTcgatagtcaggccgcagggt	14	9	3	1	rs36089266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124794763T>G	ENST00000298251.4	-	2	693	c.288A>C	c.(286-288)cgA>cgC	p.R96R		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGATACGGTCTCGATAGTCAG	0.587													T|||	27	0.00539137	0.0204	0.0	5008	,	,		21438	0.0		0.0	False		,,,				2504	0.0				p.R96R		Atlas-SNP	.											HEPACAM,NS,carcinoma,-1,4	HEPACAM	64	4	0			c.A288C						PASS	.	T		52,4350	53.6+/-89.4	1,50,2150	142	125	131		288	1.8	1	11	dbSNP_126	131	0,8598		0,0,4299	no	coding-synonymous	HEPACAM	NM_152722.4		1,50,6449	GG,GT,TT		0.0,1.1813,0.4		96/417	124794763	52,12948	2201	4299	6500	SO:0001819	synonymous_variant	220296	exon2			ACGGTCTCGATAG	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.288A>C	11.37:g.124794763T>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	111	57	0.513514	NM_152722		Silent	SNP	ENST00000298251.4	37	CCDS8456.1																																																																																			T|0.994;G|0.006	0.006	strong		0.587	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		G	124794763	T	G	124794763	2	3	22	1	0	0	0	0	0	0	0	1	7052	1538	54	5		5	HEPACAM	11	124794763	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27696	124794763	10211753	6533	11641										
CCDC15	80071	hgsc.bcm.edu	37	chr11	124862514	124862514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaagaaagagtgagagaAgaattgcctctggactatca	12	5	2	6	rs6590113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124862514A>G	ENST00000344762.5	+	10	2329	c.2070A>G	c.(2068-2070)gaA>gaG	p.E690E	CCDC15_ENST00000529051.1_Silent_p.E690E	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	690						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAGTGAGAGAAGAATTGCCTC	0.363													G|||	1437	0.286941	0.4705	0.1801	5008	,	,		9619	0.1935		0.1958	False		,,,				2504	0.3047				p.E690E		Atlas-SNP	.											.	CCDC15	134	.	0			c.A2070G						PASS	.	G		1575,2085		356,863,611	66	60	62		2070	-2.2	0	11	dbSNP_116	62	1630,6548		170,1290,2629	no	coding-synonymous	CCDC15	NM_025004.2		526,2153,3240	GG,GA,AA		19.9315,43.0328,27.0738		690/952	124862514	3205,8633	1830	4089	5919	SO:0001819	synonymous_variant	80071	exon10			GAGAGAAGAATTG	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2070A>G	11.37:g.124862514A>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_025004	Q9H8U7	Silent	SNP	ENST00000344762.5	37	CCDS44756.1																																																																																			A|0.728;G|0.272	0.272	strong		0.363	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		G	124862514	A	G	124862514	2	3	22	1	0	0	0	0	0	0	0	1	2784	69	3	3		3	CCDC15	11	124862514	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67751	124862514	10144002	6534	11642										
CCDC15	80071	hgsc.bcm.edu	37	chr11	124863136	124863136	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaatactcctggagtgccCttggtatgtttcacacaata	9	9	1	0	rs7951202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124863136C>A	ENST00000344762.5	+	11	2470	c.2211C>A	c.(2209-2211)ccC>ccA	p.P737P	CCDC15_ENST00000529051.1_Silent_p.P737P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	737						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTGGAGTGCCCTTGGTATGTT	0.358													A|||	1437	0.286941	0.4705	0.1801	5008	,	,		21131	0.1935		0.1958	False		,,,				2504	0.3047				p.P737P		Atlas-SNP	.											.	CCDC15	134	.	0			c.C2211A						PASS	.	A		1594,2086		362,870,608	69	64	65		2211	-7.2	0	11	dbSNP_116	65	1643,6523		170,1303,2610	no	coding-synonymous	CCDC15	NM_025004.2		532,2173,3218	AA,AC,CC		20.12,43.3152,27.3257		737/952	124863136	3237,8609	1840	4083	5923	SO:0001819	synonymous_variant	80071	exon11			AGTGCCCTTGGTA	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2211C>A	11.37:g.124863136C>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	55	21	0.381818	NM_025004	Q9H8U7	Silent	SNP	ENST00000344762.5	37	CCDS44756.1																																																																																			C|0.719;A|0.281	0.281	strong		0.358	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		A	124863136	C	A	124863136	2	1	22	1	0	0	0	0	0	0	0	1	2784	668	24	4		4	CCDC15	11	124863136	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	622	124863136	10143380	6535	11643										
CCDC15	80071	hgsc.bcm.edu	37	chr11	124908352	124908352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaaagagagagcaagaaTgttatgctgcagagcagagg	14	4	0	6	rs7107487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124908352T>C	ENST00000344762.5	+	14	2696	c.2437T>C	c.(2437-2439)Tgt>Cgt	p.C813R	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.C813R	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	813			C -> R (in dbSNP:rs7107487).			centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAGCAAGAATGTTATGCTGC	0.308													C|||	1149	0.229433	0.3616	0.1398	5008	,	,		16654	0.1825		0.1481	False		,,,				2504	0.2464				p.C813R		Atlas-SNP	.											.	CCDC15	134	.	0			c.T2437C						PASS	.	C	ARG/CYS	1185,2417		202,781,818	34	30	32		2437	3.1	1	11	dbSNP_116	32	1268,6866		97,1074,2896	yes	missense	CCDC15	NM_025004.2	180	299,1855,3714	CC,CT,TT		15.5889,32.8984,20.9015	benign	813/952	124908352	2453,9283	1801	4067	5868	SO:0001583	missense	80071	exon14			CAAGAATGTTATG	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2437T>C	11.37:g.124908352T>C	ENSP00000341684:p.Cys813Arg	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	112	29	0.258929	NM_025004	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	CCDS44756.1	461	0.21108058608058608	181	0.3678861788617886	59	0.16298342541436464	106	0.1853146853146853	115	0.1517150395778364	C	0.627	-0.818673	0.02776	0.328984	0.155889	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.20332	2.16;2.08	5.0	3.11	0.35812	.	.	.	.	.	T	0.00012	0.0000	N	0.00152	-1.975	0.29734	P	0.8376250000000001	B	0.02656	0.0	B	0.01281	0.0	T	0.46162	-0.9211	8	0.02654	T	1	-0.3039	5.8186	0.18514	0.1537:0.6807:0.0:0.1656	rs7107487;rs52832936;rs60393511;rs7107487	813	Q0P6D6	CCD15_HUMAN	R	813	ENSP00000435403:C813R;ENSP00000341684:C813R	ENSP00000341684:C813R	C	+	1	0	CCDC15	124413562	0.991000	0.36638	0.973000	0.42090	0.926000	0.56050	1.147000	0.31602	0.244000	0.21351	-0.349000	0.07799	TGT	T|0.779;C|0.221	0.221	strong		0.308	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		C	124908352	T	C	124908352	3	2	22	1	0	0	0	0	1	0	0	0	2784	1464	51	2	2487	2	CCDC15	11	124908352	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45216	124908352	10098164	6536	11644										
SLC37A2	219855	hgsc.bcm.edu	37	chr11	124947149	124947149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtctgcaccagaactgctcGgagcagatcaaacccatcaa	8	14	3	2	rs12276567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124947149G>A	ENST00000403796.2	+	3	466	c.165G>A	c.(163-165)tcG>tcA	p.S55S	SLC37A2_ENST00000298280.5_Silent_p.S55S|SLC37A2_ENST00000407458.1_Silent_p.S55S|SLC37A2_ENST00000308074.4_Silent_p.S55S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	55					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S55S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		AGAACTGCTCGGAGCAGATCA	0.542													G|||	1687	0.336861	0.5242	0.2925	5008	,	,		21821	0.1419		0.2634	False		,,,				2504	0.3916				p.S55S	Melanoma(11;373 620 21213 26083 47768)	Atlas-SNP	.											SLC37A2_ENST00000403796,NS,adenoma,0,3	SLC37A2	105	3	1	Substitution - coding silent(1)	prostate(1)	c.G165A						PASS	.	G	,	2062,2340	569.4+/-382.6	486,1090,625	186	182	183		165,165	-8.6	0	11	dbSNP_120	183	2197,6401	374.0+/-337.2	264,1669,2366	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	750,2759,2991	AA,AG,GG		25.5525,46.8423,32.7615	,	55/502,55/506	124947149	4259,8741	2201	4299	6500	SO:0001819	synonymous_variant	219855	exon3			CTGCTCGGAGCAG	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.165G>A	11.37:g.124947149G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																			G|0.679;A|0.321	0.321	strong		0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		A	124947149	G	A	124947149	2	1	22	1	0	0	0	0	0	0	0	1	14598	1103	39	1		1	SLC37A2	11	124947149	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38797	124947149	10059367	6537	11645										
SLC37A2	219855	hgsc.bcm.edu	37	chr11	124949044	124949044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcttccgctccgttactaCctctcagctggaatgctgct	9	15	1	0	rs33932952|rs373958961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124949044C>T	ENST00000403796.2	+	5	652	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC37A2_ENST00000298280.5_Silent_p.Y117Y|SLC37A2_ENST00000407458.1_Silent_p.Y117Y|SLC37A2_ENST00000308074.4_Silent_p.Y117Y	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	117					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Y117Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCGTTACTACCTCTCAGCTG	0.542													C|||	664	0.132588	0.18	0.1023	5008	,	,		20435	0.0605		0.1918	False		,,,				2504	0.1033				p.Y117Y	Melanoma(11;373 620 21213 26083 47768)	Atlas-SNP	.											SLC37A2,NS,carcinoma,0,1	SLC37A2	105	1	1	Substitution - coding silent(1)	stomach(1)	c.C351T						PASS	.	C	,	887,3515	344.1+/-307.9	92,703,1406	153	147	149		351,351	4.6	1	11	dbSNP_126	149	1719,6879	314.6+/-311.9	172,1375,2752	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	264,2078,4158	TT,TC,CC		19.993,20.1499,20.0462	,	117/502,117/506	124949044	2606,10394	2201	4299	6500	SO:0001819	synonymous_variant	219855	exon5			TTACTACCTCTCA	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.351C>T	11.37:g.124949044C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	139	77	0.553957	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																			C|0.814;T|0.186	0.186	strong		0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		T	124949044	C	T	124949044	2	4	22	1	0	0	0	0	0	0	0	1	14598	518	18	2		2	SLC37A2	11	124949044	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1895	124949044	10057472	6538	11646										
SLC37A2	219855	hgsc.bcm.edu	37	chr11	124955032	124955032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accactgctgtctctgctgaTctggtgagtggggccacctc	12	13	2	2	rs948268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124955032T>C	ENST00000403796.2	+	14	1546	c.1245T>C	c.(1243-1245)gaT>gaC	p.D415D	SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000407458.1_Silent_p.D415D|SLC37A2_ENST00000308074.4_Silent_p.D415D|SLC37A2_ENST00000525837.1_3'UTR	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	415					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCTCTGCTGATCTGGTGAGTG	0.617													C|||	3331	0.665136	0.9478	0.513	5008	,	,		17342	0.4643		0.6213	False		,,,				2504	0.6431				p.D415D	Melanoma(11;373 620 21213 26083 47768)	Atlas-SNP	.											.	SLC37A2	105	.	0			c.T1245C						PASS	.	C	,	3915,487	227.2+/-242.5	1747,421,33	60	61	61		1245,1245	3	1	11	dbSNP_86	61	5300,3298	492.6+/-373.4	1666,1968,665	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	3413,2389,698	CC,CT,TT		38.3578,11.0632,29.1154	,	415/502,415/506	124955032	9215,3785	2201	4299	6500	SO:0001819	synonymous_variant	219855	exon14			TGCTGATCTGGTG	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1245T>C	11.37:g.124955032T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																			T|0.312;C|0.688	0.688	strong		0.617	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		C	124955032	T	C	124955032	2	2	22	1	0	0	0	0	0	0	0	1	14598	1432	50	2		2	SLC37A2	11	124955032	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5988	124955032	10051484	6539	11647										
TMEM218	219854	hgsc.bcm.edu	37	chr11	124972114	124972114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgaacacgcccgcaccGactccgagcacagtgccagc	10	16	0	2	rs7114520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:124972114G>A	ENST00000279968.4	-	3	347	c.24C>T	c.(22-24)gtC>gtT	p.V8V	TMEM218_ENST00000529583.1_Silent_p.V8V|TMEM218_ENST00000532407.1_Silent_p.V8V|TMEM218_ENST00000527271.1_Silent_p.V8V|TMEM218_ENST00000526175.1_Silent_p.V8V|TMEM218_ENST00000455225.1_Silent_p.V8V|TMEM218_ENST00000528724.1_Silent_p.V8V|TMEM218_ENST00000527766.1_Silent_p.V8V|TMEM218_ENST00000531909.1_Silent_p.V8V|TMEM218_ENST00000529609.1_Silent_p.V8V|TMEM218_ENST00000531262.1_Intron|TMEM218_ENST00000532156.1_Silent_p.V8V			A2RU14	TM218_HUMAN	transmembrane protein 218	8						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCCCGCACCGACTCCGAGCA	0.682													G|||	294	0.0587061	0.1861	0.0115	5008	,	,		12552	0.001		0.008	False		,,,				2504	0.0317				p.V43V		Atlas-SNP	.											.	TMEM218	14	.	0			c.C129T						PASS	.	G		735,3661	293.8+/-282.8	52,631,1515	42	43	43		24	0.9	1	11	dbSNP_116	43	70,8520	41.7+/-99.0	0,70,4225	no	coding-synonymous	TMEM218	NM_001080546.1		52,701,5740	AA,AG,GG		0.8149,16.7197,6.199		8/116	124972114	805,12181	2198	4295	6493	SO:0001819	synonymous_variant	219854	exon4			CGCACCGACTCCG		CCDS31715.1	11q24.2	2008-08-08			ENSG00000150433	ENSG00000150433			27344	protein-coding gene	gene with protein product							Standard	NM_001258238		Approved		uc031qeu.1	A2RU14		ENST00000279968.4:c.24C>T	11.37:g.124972114G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_001258243	B7ZM48	Silent	SNP	ENST00000279968.4	37	CCDS31715.1																																																																																			G|0.946;A|0.054	0.054	strong		0.682	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386849.1	NM_001080546		A	124972114	G	A	124972114	2	1	22	1	0	0	0	0	0	0	0	1	16138	1045	37	1		1	TMEM218	11	124972114	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17082	124972114	10034402	6540	11648										
STT3A	3703	hgsc.bcm.edu	37	chr11	125476252	125476252	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaattcctctccacgtcctCgtgctgatgctcacaggccg	8	15	2	1	rs34964592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125476252C>G	ENST00000529196.1	+	9	878	c.672C>G	c.(670-672)ctC>ctG	p.L224L	STT3A_ENST00000392708.4_Silent_p.L224L|STT3A_ENST00000531491.1_Silent_p.L132L			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	224					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCCACGTCCTCGTGCTGATGC	0.473													G|||	519	0.103634	0.2436	0.0605	5008	,	,		17944	0.0308		0.0716	False		,,,				2504	0.0532				p.L224L		Atlas-SNP	.											.	STT3A	52	.	0			c.C672G						PASS	.	G		917,3485	738.5+/-411.0	88,741,1372	371	316	335		672	2.2	1	11	dbSNP_126	335	578,8020	793.3+/-407.5	18,542,3739	no	coding-synonymous	STT3A	NM_152713.3		106,1283,5111	GG,GC,CC		6.7225,20.8314,11.5		224/706	125476252	1495,11505	2201	4299	6500	SO:0001819	synonymous_variant	3703	exon8			CGTCCTCGTGCTG	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.672C>G	11.37:g.125476252C>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	199	80	0.40201	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	CCDS8458.1																																																																																			C|0.891;G|0.109	0.109	strong		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		G	125476252	C	G	125476252	2	3	22	1	0	0	0	0	0	0	0	1	15332	871	31	4		4	STT3A	11	125476252	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	504138	125476252	9530264	6541	11649										
STT3A	3703	hgsc.bcm.edu	37	chr11	125484044	125484044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctatggcaaaccgaacAattttagtggacaataacac	7	9	0	0	rs12276729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125484044A>G	ENST00000529196.1	+	15	1823	c.1617A>G	c.(1615-1617)acA>acG	p.T539T	STT3A_ENST00000392708.4_Silent_p.T539T|STT3A_ENST00000531491.1_Silent_p.T447T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	539					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CAAACCGAACAATTTTAGTGG	0.403													A|||	228	0.0455272	0.1399	0.0144	5008	,	,		21257	0.0288		0.002	False		,,,				2504	0.002				p.T539T		Atlas-SNP	.											.	STT3A	52	.	0			c.A1617G						PASS	.	A		517,3885	238.4+/-249.8	25,467,1709	212	196	201		1617	-8.6	0.9	11	dbSNP_120	201	5,8593	3.7+/-12.6	0,5,4294	no	coding-synonymous	STT3A	NM_152713.3		25,472,6003	GG,GA,AA		0.0582,11.7447,4.0154		539/706	125484044	522,12478	2201	4299	6500	SO:0001819	synonymous_variant	3703	exon14			CCGAACAATTTTA	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1617A>G	11.37:g.125484044A>G		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	211	82	0.388626	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	CCDS8458.1																																																																																			A|0.956;G|0.044	0.044	strong		0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		G	125484044	A	G	125484044	2	3	22	1	0	0	0	0	0	0	0	1	15332	117	5	2		2	STT3A	11	125484044	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7792	125484044	9522472	6542	11650										
STT3A	3703	hgsc.bcm.edu	37	chr11	125488404	125488404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccagtgctgctcaactgCctcatgtacaagatgtgtta	8	11	3	1	rs17140116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125488404C>T	ENST00000529196.1	+	17	2117	c.1911C>T	c.(1909-1911)tgC>tgT	p.C637C	STT3A_ENST00000392708.4_Silent_p.C637C|STT3A_ENST00000531491.1_Silent_p.C545C			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	637					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGCTCAACTGCCTCATGTACA	0.413													C|||	557	0.111222	0.27	0.062	5008	,	,		16908	0.0308		0.0736	False		,,,				2504	0.0532				p.C637C		Atlas-SNP	.											.	STT3A	52	.	0			c.C1911T						PASS	.	C		1016,3386	377.5+/-322.5	113,790,1298	153	137	142		1911	2.4	1	11	dbSNP_123	142	579,8019	155.1+/-209.2	18,543,3738	no	coding-synonymous	STT3A	NM_152713.3		131,1333,5036	TT,TC,CC		6.7341,23.0804,12.2692		637/706	125488404	1595,11405	2201	4299	6500	SO:0001819	synonymous_variant	3703	exon16			CAACTGCCTCATG	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1911C>T	11.37:g.125488404C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	75	29	0.386667	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	CCDS8458.1																																																																																			C|0.878;T|0.122	0.122	strong		0.413	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		T	125488404	C	T	125488404	2	4	22	1	0	0	0	0	0	0	0	1	15332	747	26	2		2	STT3A	11	125488404	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4360	125488404	9518112	6543	11651										
DDX25	29118	hgsc.bcm.edu	37	chr11	125778305	125778305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttctacagaccccagaaCctcatagcacagagccagtc	6	15	2	3	rs34007659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125778305C>T	ENST00000263576.6	+	6	569	c.414C>T	c.(412-414)aaC>aaT	p.N138N	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	138	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GACCCCAGAACCTCATAGCAC	0.428													C|||	85	0.0169728	0.0613	0.0043	5008	,	,		20960	0.0		0.001	False		,,,				2504	0.0				p.N138N		Atlas-SNP	.											.	DDX25	65	.	0			c.C414T						PASS	.	C		201,3635		5,191,1722	170	163	165		414	2.3	1	11	dbSNP_126	165	5,8241		0,5,4118	no	coding-synonymous	DDX25	NM_013264.3		5,196,5840	TT,TC,CC		0.0606,5.2398,1.705		138/484	125778305	206,11876	1918	4123	6041	SO:0001819	synonymous_variant	29118	exon6			CCAGAACCTCATA	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.414C>T	11.37:g.125778305C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	146	83	0.568493	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	CCDS44766.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	C	8.677	0.904182	0.17760	0.052398	6.06E-4	ENSG00000109832	ENST00000530129	.	.	.	5.18	2.26	0.28386	.	.	.	.	.	T	0.10165	0.0249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03773	-1.1005	4	.	.	.	-6.705	4.4905	0.11812	0.0:0.4806:0.1565:0.3629	rs34007659	.	.	.	S	150	.	.	P	+	1	0	DDX25	125283515	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.292000	0.19011	0.269000	0.21961	0.591000	0.81541	CCT	C|0.985;T|0.015	0.015	strong		0.428	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		T	125778305	C	T	125778305	2	4	22	1	0	0	0	0	0	0	0	1	4352	506	18	2		2	DDX25	11	125778305	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	289901	125778305	9228211	6544	11652										
CDON	50937	hgsc.bcm.edu	37	chr11	125889526	125889526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctcacctgtggaatgttCcagccattttccccggattt	9	12	1	0	rs3740909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125889526C>T	ENST00000392693.3	-	4	611	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	CDON_ENST00000263577.7_Missense_Mutation_p.E162K	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	162	Ig-like C2-type 2.		E -> K (in dbSNP:rs3740909).		anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E162K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTGGAATGTTCCAGCCATTTT	0.463													T|||	561	0.112021	0.1142	0.1225	5008	,	,		16614	0.127		0.0885	False		,,,				2504	0.1104				p.E162K		Atlas-SNP	.											CDON,NS,carcinoma,0,1	CDON	137	1	1	Substitution - Missense(1)	stomach(1)	c.G484A						PASS	.	T	LYS/GLU	545,3857	775.6+/-414.1	39,467,1695	147	151	149		484	4	0.9	11	dbSNP_107	149	739,7859	785.5+/-407.6	30,679,3590	yes	missense	CDON	NM_016952.4	56	69,1146,5285	TT,TC,CC		8.595,12.3807,9.8769	benign	162/1265	125889526	1284,11716	2201	4299	6500	SO:0001583	missense	50937	exon4			AATGTTCCAGCCA	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.484G>A	11.37:g.125889526C>T	ENSP00000376458:p.Glu162Lys	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	122	70	0.57377	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	235|235	0.10760073260073261|0.10760073260073261	59|59	0.11991869918699187|0.11991869918699187	42|42	0.11602209944751381|0.11602209944751381	63|63	0.11013986013986014|0.11013986013986014	71|71	0.09366754617414248|0.09366754617414248	T|T	6.637|6.637	0.485978|0.485978	0.12641|0.12641	0.123807|0.123807	0.08595|0.08595	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586|ENST00000534661	T;T;T|.	0.60548|.	2.7;2.7;0.18|.	5.33|5.33	4.03|4.03	0.46877|0.46877	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.362364|.	0.23589|.	N|.	0.046564|.	T|T	0.00552|0.00552	0.0018|0.0018	L|L	0.35793|0.35793	1.09|1.09	0.58432|0.58432	P|P	5.000000000032756E-6|5.000000000032756E-6	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.11329|.	0.0;0.006;0.003|.	T|T	0.12889|0.12889	-1.0530|-1.0530	9|4	0.02654|.	T|.	1|.	-5.3068|-5.3068	4.0763|4.0763	0.09906|0.09906	0.0:0.2693:0.1793:0.5514|0.0:0.2693:0.1793:0.5514	rs3740909;rs58697958;rs3740909|rs3740909;rs58697958;rs3740909	162;162;162|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	K|E	162|137	ENSP00000376458:E162K;ENSP00000263577:E162K;ENSP00000434212:E162K|.	ENSP00000263577:E162K|.	E|G	-|-	1|2	0|0	CDON|CDON	125394736|125394736	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.969000|0.969000	0.65631|0.65631	1.933000|1.933000	0.40153|0.40153	0.961000|0.961000	0.38030|0.38030	-0.361000|-0.361000	0.07541|0.07541	GAA|GGA	C|0.896;N|0.000	.	strong		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125889526	C	T	125889526	3	4	22	1	0	0	0	0	1	0	0	0	3170	864	30	2	3378	2	CDON	11	125889526	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111221	125889526	9116990	6545	11653										
CDON	50937	hgsc.bcm.edu	37	chr11	125891269	125891269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcccctgatgaatcttaaCatgttccaggtttccatcca	6	12	1	2	rs3740912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:125891269C>T	ENST00000392693.3	-	3	350	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CDON_ENST00000263577.7_Missense_Mutation_p.V75I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	75	Ig-like C2-type 1.			V -> I (in Ref. 1; AAC34901 and 3; AAH98583). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V75I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGAATCTTAACATGTTCCAGG	0.458													T|||	2866	0.572284	0.8563	0.5173	5008	,	,		18993	0.3452		0.5308	False		,,,				2504	0.5041				p.V75I		Atlas-SNP	.											CDON,NS,carcinoma,0,1	CDON	137	1	1	Substitution - Missense(1)	stomach(1)	c.G223A						PASS	.	T	ILE/VAL	3530,872	338.9+/-305.5	1413,704,84	106	101	103		223	1.8	0	11	dbSNP_107	103	4857,3741	532.6+/-382.2	1391,2075,833	yes	missense	CDON	NM_016952.4	29	2804,2779,917	TT,TC,CC		43.5101,19.8092,35.4846	benign	75/1265	125891269	8387,4613	2201	4299	6500	SO:0001583	missense	50937	exon3			TCTTAACATGTTC	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.223G>A	11.37:g.125891269C>T	ENSP00000376458:p.Val75Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	141	66	0.468085	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	1194|1194	0.5467032967032966|0.5467032967032966	397|397	0.806910569105691|0.806910569105691	201|201	0.5552486187845304|0.5552486187845304	189|189	0.3304195804195804|0.3304195804195804	407|407	0.5369393139841688|0.5369393139841688	T|T	0.008|0.008	-1.905451|-1.905451	0.00512|0.00512	0.801908|0.801908	0.564899|0.564899	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	.|T;T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08;1.08	5.4|5.4	1.84|1.84	0.25277|0.25277	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.618492	.|0.14418	.|N	.|0.320824	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.16166|0.16166	0.38|0.38	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.06786	.|0.0;0.001;0.001	.|B;B;B	.|0.15052	.|0.003;0.012;0.007	T|T	0.39663|0.39663	-0.9603|-0.9603	4|9	.|0.06236	.|T	.|0.91	-7.9123|-7.9123	4.7519|4.7519	0.13064|0.13064	0.0:0.4272:0.1826:0.3902|0.0:0.4272:0.1826:0.3902	rs3740912;rs17527371;rs60942054;rs3740912|rs3740912;rs17527371;rs60942054;rs3740912	.|75;75;75	.|E9PRD8;Q4KMG0;Q4KMG0-2	.|.;CDON_HUMAN;.	Y|I	50|75	.|ENSP00000376458:V75I;ENSP00000263577:V75I;ENSP00000434212:V75I;ENSP00000436940:V75I;ENSP00000437176:V75I	.|ENSP00000263577:V75I	C|V	-|-	2|1	0|0	CDON|CDON	125396479|125396479	0.977000|0.977000	0.34250|0.34250	0.006000|0.006000	0.13384|0.13384	0.019000|0.019000	0.09904|0.09904	1.485000|1.485000	0.35519|0.35519	0.052000|0.052000	0.16007|0.16007	-1.755000|-1.755000	0.00674|0.00674	TGT|GTT	C|0.401;T|0.599	0.599	strong		0.458	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125891269	C	T	125891269	3	4	22	1	0	0	0	0	1	0	0	0	3170	478	17	2	3643	2	CDON	11	125891269	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1743	125891269	9115247	6546	11654										
RPUSD4	84881	hgsc.bcm.edu	37	chr11	126074192	126074192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggacaatccaatccaaaAgacaagtgaactcgaagctg	8	9	0	2	rs2276312	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:126074192A>G	ENST00000298317.4	-	6	881	c.828T>C	c.(826-828)tcT>tcC	p.S276S	RPUSD4_ENST00000533628.1_Silent_p.S245S|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	276					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CCAATCCAAAAGACAAGTGAA	0.423													A|||	1298	0.259185	0.0408	0.3242	5008	,	,		18746	0.623		0.1143	False		,,,				2504	0.2822				p.S276S		Atlas-SNP	.											.	RPUSD4	36	.	0			c.T828C						PASS	.	A	,	315,4087	161.4+/-193.6	14,287,1900	109	106	107		735,828	-4.4	1	11	dbSNP_100	107	1002,7596	203.0+/-246.1	55,892,3352	no	coding-synonymous,coding-synonymous	RPUSD4	NM_001144827.1,NM_032795.2	,	69,1179,5252	GG,GA,AA		11.6539,7.1558,10.1308	,	245/347,276/378	126074192	1317,11683	2201	4299	6500	SO:0001819	synonymous_variant	84881	exon6			TCCAAAAGACAAG	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.828T>C	11.37:g.126074192A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	39	29	0.74359	NM_032795	E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	CCDS8469.1																																																																																			A|0.818;G|0.182	0.182	strong		0.423	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		G	126074192	A	G	126074192	2	3	22	1	0	0	0	0	0	0	0	1	13669	59	3	3		3	RPUSD4	11	126074192	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	182923	126074192	8932324	6547	11655										
DCPS	28960	hgsc.bcm.edu	37	chr11	126174164	126174164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcgggacaaaatcattttCctacacgggaaggtaccagg	12	10	1	0	rs695029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:126174164C>T	ENST00000263579.4	+	1	518	c.189C>T	c.(187-189)ttC>ttT	p.F63F	RP11-712L6.5_ENST00000524964.1_5'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	63					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AAATCATTTTCCTACACGGGA	0.547													C|||	1531	0.305711	0.0749	0.3905	5008	,	,		17744	0.624		0.2008	False		,,,				2504	0.3374				p.F63F		Atlas-SNP	.											DCPS,NS,carcinoma,+2,1	DCPS	33	1	0			c.C189T						PASS	.	C		466,3936	218.1+/-236.3	26,414,1761	72	71	71		189	3.8	0.9	11	dbSNP_83	71	1723,6873	311.4+/-310.3	160,1403,2735	no	coding-synonymous	DCPS	NM_014026.3		186,1817,4496	TT,TC,CC		20.0442,10.5861,16.8411		63/338	126174164	2189,10809	2201	4298	6499	SO:0001819	synonymous_variant	28960	exon1			CATTTTCCTACAC	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.189C>T	11.37:g.126174164C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	98	53	0.540816	NM_014026	Q8NHL8|Q9Y2S5	Silent	SNP	ENST00000263579.4	37	CCDS8473.1																																																																																			C|0.772;T|0.228	0.228	strong		0.547	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		T	126174164	C	T	126174164	2	4	22	1	0	0	0	0	0	0	0	1	4301	854	30	2		2	DCPS	11	126174164	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99972	126174164	8832352	6548	11656										
ST3GAL4	6484	hgsc.bcm.edu	37	chr11	126277216	126277216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaagacgccatctgcttaCgagctgccctatgggaccaa	10	13	2	1	rs2230278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:126277216C>T	ENST00000526727.1	+	4	626	c.252C>T	c.(250-252)taC>taT	p.Y84Y	ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000392669.2_Silent_p.Y84Y|ST3GAL4_ENST00000449406.2_Silent_p.Y73Y|ST3GAL4_ENST00000534083.1_Silent_p.Y84Y|ST3GAL4_ENST00000356132.4_Silent_p.Y90Y|ST3GAL4_ENST00000227495.6_Silent_p.Y80Y|ST3GAL4_ENST00000534457.1_Silent_p.Y79Y|ST3GAL4_ENST00000530591.1_Silent_p.Y80Y|ST3GAL4_ENST00000444328.2_Silent_p.Y84Y|ST3GAL4_ENST00000532243.1_Silent_p.Y83Y			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	84					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CATCTGCTTACGAGCTGCCCT	0.582													C|||	1734	0.346246	0.3646	0.3242	5008	,	,		15739	0.5099		0.3181	False		,,,				2504	0.1973				p.Y84Y		Atlas-SNP	.											.	ST3GAL4	25	.	0			c.C252T						PASS	.	C		1543,2859	486.0+/-360.5	274,995,932	122	116	118		240	-9.4	0.7	11	dbSNP_98	118	2608,5988	422.9+/-354.2	370,1868,2060	no	coding-synonymous	ST3GAL4	NM_006278.1		644,2863,2992	TT,TC,CC		30.3397,35.0522,31.9357		80/330	126277216	4151,8847	2201	4298	6499	SO:0001819	synonymous_variant	6484	exon5			TGCTTACGAGCTG	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.252C>T	11.37:g.126277216C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	117	68	0.581197	NM_001254757	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	CCDS58193.1																																																																																			C|0.657;T|0.343	0.343	strong		0.582	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		T	126277216	C	T	126277216	2	4	22	1	0	0	0	0	0	0	0	1	15216	547	19	1		1	ST3GAL4	11	126277216	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103052	126277216	8729300	6549	11657										
ST3GAL4	6484	hgsc.bcm.edu	37	chr11	126278075	126278075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatgccatcaacaagtaCgatgtggtcatcaggtgtgt	13	7	3	1	rs2230279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:126278075C>T	ENST00000526727.1	+	6	797	c.423C>T	c.(421-423)taC>taT	p.Y141Y	ST3GAL4_ENST00000444328.2_Silent_p.Y141Y|ST3GAL4_ENST00000392669.2_Silent_p.Y141Y|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000356132.4_Silent_p.Y147Y|ST3GAL4_ENST00000534083.1_Silent_p.Y141Y|ST3GAL4_ENST00000449406.2_Silent_p.Y130Y|ST3GAL4_ENST00000227495.6_Silent_p.Y137Y|ST3GAL4_ENST00000534457.1_Silent_p.Y136Y|ST3GAL4_ENST00000530591.1_Silent_p.Y137Y|ST3GAL4_ENST00000532243.1_Silent_p.Y140Y			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TCAACAAGTACGATGTGGTCA	0.582													C|||	1727	0.344848	0.3623	0.3256	5008	,	,		19286	0.5079		0.3101	False		,,,				2504	0.2025				p.Y141Y		Atlas-SNP	.											.	ST3GAL4	25	.	0			c.C423T						PASS	.	C		1546,2856	485.5+/-360.3	270,1006,925	166	169	168		411	2.3	1	11	dbSNP_98	168	2582,6014	419.5+/-353.1	365,1852,2081	no	coding-synonymous	ST3GAL4	NM_006278.1		635,2858,3006	TT,TC,CC		30.0372,35.1204,31.7587		137/330	126278075	4128,8870	2201	4298	6499	SO:0001819	synonymous_variant	6484	exon7			CAAGTACGATGTG	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.423C>T	11.37:g.126278075C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	213	100	0.469484	NM_001254757	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	CCDS58193.1																																																																																			C|0.657;T|0.343	0.343	strong		0.582	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		T	126278075	C	T	126278075	2	4	22	1	0	0	0	0	0	0	0	1	15216	547	19	1		1	ST3GAL4	11	126278075	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	859	126278075	8728441	6550	11658										
KIRREL3	84623	hgsc.bcm.edu	37	chr11	126294661	126294661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggaaggagctgctgtcGctgagggagcctctctggaa	15	10	1	1	rs34844660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:126294661G>A	ENST00000525144.2	-	17	2400	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	KIRREL3_ENST00000416561.2_Silent_p.S184S|KIRREL3_ENST00000529097.2_Silent_p.S705S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	717	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGCTGCTGTCGCTGAGGGAGC	0.627													G|||	69	0.013778	0.0514	0.0014	5008	,	,		19048	0.0		0.0	False		,,,				2504	0.0				p.S717S		Atlas-SNP	.											.	KIRREL3	183	.	0			c.C2151T						PASS	.	G		148,4198		0,148,2025	74	82	79		2151	4	1	11	dbSNP_126	79	0,8562		0,0,4281	no	coding-synonymous	KIRREL3	NM_032531.3		0,148,6306	AA,AG,GG		0.0,3.4054,1.1466		717/779	126294661	148,12760	2173	4281	6454	SO:0001819	synonymous_variant	84623	exon17			GCTGTCGCTGAGG	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2151C>T	11.37:g.126294661G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	109	54	0.495413	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																			G|0.992;A|0.008	0.008	strong		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126294661	G	A	126294661	2	1	22	1	0	0	0	0	0	0	0	1	8326	1078	38	1		1	KIRREL3	11	126294661	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16586	126294661	8711855	6551	11659										
FLI1	2313	hgsc.bcm.edu	37	chr11	128675292	128675292	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcagtcagaagaggagcTtggggcaataacatgaattc	12	7	2	3	rs7113191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:128675292T>A	ENST00000527786.2	+	6	1176	c.687T>A	c.(685-687)gcT>gcA	p.A229A	FLI1_ENST00000344954.6_Silent_p.A196A|FLI1_ENST00000281428.8_Silent_p.A163A|FLI1_ENST00000525560.1_Silent_p.A36A|FLI1_ENST00000534087.2_Silent_p.A196A	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	229					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAAGAGGAGCTTGGGGCAATA	0.398			T	EWSR1	Ewing sarcoma								t|||	877	0.17512	0.2579	0.1254	5008	,	,		21079	0.1706		0.1093	False		,,,				2504	0.1708				p.A229A		Atlas-SNP	.		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	.	FLI1	72	.	0			c.T687A						PASS	.	A	,	916,2778		125,666,1056	77	76	76		588,687	-0.8	0.6	11	dbSNP_116	76	890,7286		47,796,3245	no	coding-synonymous,coding-synonymous	FLI1	NM_001167681.2,NM_002017.3	,	172,1462,4301	AA,AT,TT		10.8855,24.797,15.2148	,	196/420,229/453	128675292	1806,10064	1847	4088	5935	SO:0001819	synonymous_variant	2313	exon6			AGGAGCTTGGGGC	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.687T>A	11.37:g.128675292T>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_002017	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																			T|0.855;A|0.145	0.145	strong		0.398	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		A	128675292	T	A	128675292	2	1	22	1	0	0	0	0	0	0	0	1	5924	1596	56	5		5	FLI1	11	128675292	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2380631	128675292	6331224	6552	11660										
ARHGAP32	9743	hgsc.bcm.edu	37	chr11	128994781	128994781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatctctggaacatctgcGcctcttgccttaaaaaataa	7	10	3	0	rs114955890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:128994781G>A	ENST00000310343.9	-	3	233	c.234C>T	c.(232-234)ggC>ggT	p.G78G	ARHGAP32_ENST00000524655.1_Silent_p.G4G	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	78					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAACATCTGCGCCTCTTGCCT	0.333													G|||	6	0.00119808	0.0045	0.0	5008	,	,		15533	0.0		0.0	False		,,,				2504	0.0				p.G78G		Atlas-SNP	.											.	ARHGAP32	307	.	0			c.C234T						PASS	.	G		17,3115		0,17,1549	108	98	101		234	2.2	1	11	dbSNP_132	101	0,7156		0,0,3578	no	coding-synonymous	ARHGAP32	NM_001142685.1		0,17,5127	AA,AG,GG		0.0,0.5428,0.1652		78/2088	128994781	17,10271	1566	3578	5144	SO:0001819	synonymous_variant	9743	exon3			ATCTGCGCCTCTT	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.234C>T	11.37:g.128994781G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	59	34	0.576271	NM_001142685	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																			G|0.998;A|0.002	0.002	strong		0.333	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	128994781	G	A	128994781	2	1	22	1	0	0	0	0	0	0	0	1	881	1074	38	1		1	ARHGAP32	11	128994781	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	319489	128994781	6011735	6553	11661										
TMEM45B	120224	hgsc.bcm.edu	37	chr11	129722512	129722512	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacattactatcagcgtctCgagatcgtcgaagccgcaat	8	12	2	1	rs115605173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129722512C>T	ENST00000524567.1	+	2	416	c.135C>T	c.(133-135)ctC>ctT	p.L45L	TMEM45B_ENST00000281441.3_Silent_p.L45L			Q96B21	TM45B_HUMAN	transmembrane protein 45B	45						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ATCAGCGTCTCGAGATCGTCG	0.483													C|||	40	0.00798722	0.0272	0.0058	5008	,	,		19521	0.0		0.0	False		,,,				2504	0.0				p.L45L		Atlas-SNP	.											.	TMEM45B	25	.	0			c.C135T						PASS	.	C		118,4284	89.2+/-127.9	1,116,2084	144	133	136		135	-11.3	0	11	dbSNP_132	136	10,8584	7.1+/-27.0	0,10,4287	no	coding-synonymous	TMEM45B	NM_138788.3		1,126,6371	TT,TC,CC		0.1164,2.6806,0.9849		45/276	129722512	128,12868	2201	4297	6498	SO:0001819	synonymous_variant	120224	exon2			GCGTCTCGAGATC	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.135C>T	11.37:g.129722512C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	248	132	0.532258	NM_138788	A8K2L8	Silent	SNP	ENST00000524567.1	37	CCDS8482.1																																																																																			C|0.991;T|0.009	0.009	strong		0.483	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		T	129722512	C	T	129722512	2	4	22	1	0	0	0	0	0	0	0	1	16167	871	31	1		1	TMEM45B	11	129722512	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	727731	129722512	5284004	6554	11662										
NFRKB	4798	hgsc.bcm.edu	37	chr11	129752426	129752426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtactgcttagcggctcGgccaggtcctctgcctctga	11	14	3	1	rs76967949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129752426G>A	ENST00000446488.3	-	9	1105	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	NFRKB_ENST00000524794.1_Silent_p.A359A|NFRKB_ENST00000304521.5_Silent_p.A334A|NFRKB_ENST00000524746.1_Silent_p.A334A	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	334					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTAGCGGCTCGGCCAGGTCCT	0.463													G|||	42	0.00838658	0.0295	0.0043	5008	,	,		17616	0.0		0.0	False		,,,				2504	0.0				p.A359A		Atlas-SNP	.											.	NFRKB	101	.	0			c.C1077T						PASS	.	G	,	177,4225	116.3+/-154.2	5,167,2029	95	99	98		1002,1077	-0.8	0.6	11	dbSNP_131	98	5,8589	4.3+/-15.6	0,5,4292	no	coding-synonymous,coding-synonymous	NFRKB	NM_001143835.1,NM_006165.3	,	5,172,6321	AA,AG,GG		0.0582,4.0209,1.4004	,	334/1300,359/1325	129752426	182,12814	2201	4297	6498	SO:0001819	synonymous_variant	4798	exon8			CGGCTCGGCCAGG		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1002C>T	11.37:g.129752426G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	85	51	0.6	NM_006165	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	CCDS44770.1																																																																																			G|0.985;A|0.015	0.015	strong		0.463	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		A	129752426	G	A	129752426	2	1	22	1	0	0	0	0	0	0	0	1	10384	1103	39	1		1	NFRKB	11	129752426	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29914	129752426	5254090	6555	11663										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129772309	129772309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgttggtctgggggtccaGggagtcactgtgtgcaggtg	19	7	2	0	rs12275633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129772309G>A	ENST00000360871.3	-	21	3601	c.3370C>T	c.(3370-3372)Ctg>Ttg	p.L1124L	PRDM10_ENST00000358825.5_Silent_p.L1128L|PRDM10_ENST00000304538.6_Silent_p.L991L|PRDM10_ENST00000528746.1_Silent_p.L1085L|PRDM10_ENST00000423662.2_Silent_p.L1029L|PRDM10_ENST00000526082.1_Silent_p.L1042L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1115					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)		TGGGGGTCCAGGGAGTCACTG	0.512													A|||	401	0.0800719	0.2912	0.0216	5008	,	,		20324	0.0		0.001	False		,,,				2504	0.0				p.L1128L		Atlas-SNP	.											.	PRDM10	120	.	0			c.C3382T						PASS	.	A	,,,	1030,3372	726.5+/-409.7	128,774,1299	280	239	252		3382,3370,3085,2971	-2.2	0.7	11	dbSNP_120	252	6,8588	818.8+/-406.8	0,6,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	128,780,5590	AA,AG,GG		0.0698,23.3985,7.9717	,,,	1128/1161,1124/1157,1029/1062,991/1024	129772309	1036,11960	2201	4297	6498	SO:0001819	synonymous_variant	56980	exon22			GGTCCAGGGAGTC	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.3370C>T	11.37:g.129772309G>A		Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	279	146	0.523297	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																			G|0.921;A|0.079	0.079	strong		0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		A	129772309	G	A	129772309	2	1	22	1	0	0	0	0	0	0	0	1	12451	991	35	2		2	PRDM10	11	129772309	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19883	129772309	5234207	6556	11664										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129785615	129785615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggggtggcgatggtgccCgtcagctgggtgtgtgtgct	21	7	1	0	rs3734071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129785615C>T	ENST00000360871.3	-	16	2697	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	PRDM10_ENST00000358825.5_Silent_p.T826T|PRDM10_ENST00000304538.6_Silent_p.T736T|PRDM10_ENST00000528746.1_Silent_p.T796T|PRDM10_ENST00000423662.2_Silent_p.T740T|PRDM10_ENST00000526082.1_Silent_p.T740T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	826					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)		CGATGGTGCCCGTCAGCTGGG	0.617													C|||	1173	0.234225	0.4236	0.1931	5008	,	,		15763	0.4077		0.0258	False		,,,				2504	0.0429				p.T826T		Atlas-SNP	.											.	PRDM10	120	.	0			c.G2478A						PASS	.	C	,,,	1644,2758	503.9+/-365.7	309,1026,866	124	117	120		2478,2466,2220,2208	-12.3	0.1	11	dbSNP_107	120	203,8391	87.1+/-149.5	2,199,4096	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	311,1225,4962	TT,TC,CC		2.3621,37.3467,14.2121	,,,	826/1161,822/1157,740/1062,736/1024	129785615	1847,11149	2201	4297	6498	SO:0001819	synonymous_variant	56980	exon17			GGTGCCCGTCAGC	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.2466G>A	11.37:g.129785615C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	52	0.448276	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																			C|0.823;T|0.177	0.177	strong		0.617	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		T	129785615	C	T	129785615	2	4	22	1	0	0	0	0	0	0	0	1	12451	639	23	1		1	PRDM10	11	129785615	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13306	129785615	5220901	6557	11665										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129830796	129830796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaccagtcttcacctgtgCggcattctgttcatgctctg	9	12	5	1	rs11221912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129830796C>T	ENST00000360871.3	-	2	295	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PRDM10_ENST00000358825.5_Missense_Mutation_p.A22T|PRDM10_ENST00000528746.1_Missense_Mutation_p.A22T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	22			A -> T (in dbSNP:rs11221912).		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)	p.A22T(1)		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)		TTCACCTGTGCGGCATTCTGT	0.493													C|||	1397	0.278954	0.3949	0.1758	5008	,	,		18326	0.5417		0.0557	False		,,,				2504	0.1544				p.A22T		Atlas-SNP	.											PRDM10,NS,carcinoma,0,1	PRDM10	120	1	1	Substitution - Missense(1)	stomach(1)	c.G64A						PASS	.	C	THR/ALA,THR/ALA	1553,2849	487.6+/-361.0	272,1009,920	139	124	129		64,64	-0.9	0	11	dbSNP_120	129	475,8119	139.5+/-196.2	13,449,3835	yes	missense,missense	PRDM10	NM_020228.2,NM_199437.1	58,58	285,1458,4755	TT,TC,CC		5.5271,35.2794,15.6048	benign,benign	22/1161,22/1157	129830796	2028,10968	2201	4297	6498	SO:0001583	missense	56980	exon2			CCTGTGCGGCATT	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.64G>A	11.37:g.129830796C>T	ENSP00000354118:p.Ala22Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	122	49	0.401639	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	594	0.27197802197802196	196	0.3983739837398374	54	0.14917127071823205	308	0.5384615384615384	36	0.047493403693931395	C	11.92	1.781863	0.31502	0.352794	0.055271	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.52295	2.76;2.75;2.76;0.67;0.68	5.39	-0.936	0.10419	.	0.349382	0.28871	N	0.013866	T	0.00012	0.0000	L	0.27053	0.805	0.22342	P	0.999180817	B;B;B	0.14438	0.01;0.006;0.001	B;B;B	0.12156	0.007;0.002;0.0	T	0.48175	-0.9058	9	0.51188	T	0.08	-3.0822	10.3723	0.44062	0.0:0.611:0.0:0.389	rs11221912;rs58525085;rs11221912	22;22;22	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	T	22	ENSP00000351686:A22T;ENSP00000354118:A22T;ENSP00000431262:A22T;ENSP00000432093:A22T;ENSP00000436681:A22T	ENSP00000351686:A22T	A	-	1	0	PRDM10	129336006	0.041000	0.20044	0.002000	0.10522	0.116000	0.19942	0.163000	0.16520	-0.364000	0.08088	-0.143000	0.13931	GCA	C|0.776;T|0.224	0.224	strong		0.493	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		T	129830796	C	T	129830796	3	4	22	1	0	0	0	0	1	0	0	0	12451	768	27	1	3538	1	PRDM10	11	129830796	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45181	129830796	5175720	6558	11666										
APLP2	334	hgsc.bcm.edu	37	chr11	129991653	129991658	+	In_Frame_Del	DEL	GAAGAG	GAAGAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagaggaagaggaagatGaagaggaagaggaagaggaa					rs3837393|rs545528084|rs71750553|rs565247278|rs76279939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAAGAG	GAAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:129991653_129991658delGAAGAG	ENST00000263574.5	+	5	733_738	c.661_666delGAAGAG	c.(661-666)gaagagdel	p.EE225del	APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_In_Frame_Del_p.EE225del|APLP2_ENST00000539648.1_In_Frame_Del_p.EE69del|APLP2_ENST00000338167.5_In_Frame_Del_p.EE225del|APLP2_ENST00000278756.7_In_Frame_Del_p.EE235del|APLP2_ENST00000543137.1_In_Frame_Del_p.EE132del	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	225	Asp/Glu-rich (highly acidic).|Poly-Glu.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		agaggaagatgaagaggaagaggaag	0.427														458	0.0914537	0.1626	0.0764	5008	,	,		21044	0.0625		0.0964	False		,,,				2504	0.0307				p.230_232del		Pindel,Atlas-Indel	.											.	APLP2	71	.	0			c.690_695del						PASS	.		,,,	811,3453		85,641,1406					,,,	-9	0		dbSNP_130	90	825,7429		35,755,3337	no	coding,intron,coding,coding	APLP2	NM_001642.2,NM_001142278.1,NM_001142277.1,NM_001142276.1	,,,	120,1396,4743	A1A1,A1R,RR		9.9952,19.0197,13.0692	,,,	,,,		1636,10882				SO:0001651	inframe_deletion	334	exon5			.	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.661_666delGAAGAG	11.37:g.129991659_129991664delGAAGAG	ENSP00000263574:p.Glu225_Glu226del	Somatic	115	.	.		WXS	Illumina HiSeq	Phase_I	98	19	0.194	NM_001243299	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	In_Frame_Del	DEL	ENST00000263574.5	37	CCDS8486.1																																																																																			GAAGAG|0.892;-|0.108	0.108	strong		0.427	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		-	129991658	GAAGAG	-	129991653	7	5	22	1	0	1	0	1	0	0	0	0	779	1291	45	0	679	0	APLP2	11	129991653	In_Frame_Del	DEL	GAAGAG	TCGA-G8-6324-01A-11D-2210-10	160857	129991653	5014863	6559	11667										
ADAMTS8	11095	hgsc.bcm.edu	37	chr11	130284495	130284495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgcccaggcccgcacggCgtgccgtcagcccagggcag	16	16	1	0	rs142963990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:130284495C>T	ENST00000257359.6	-	5	2203	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	499	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCCGCACGGCGTGCCGTCAG	0.662													C|||	20	0.00399361	0.0151	0.0	5008	,	,		17513	0.0		0.0	False		,,,				2504	0.0				p.T499T		Atlas-SNP	.											.	ADAMTS8	172	.	0			c.G1497A						PASS	.	C		53,3979		0,53,1963	48	54	52		1497	-11.2	0.2	11	dbSNP_134	52	0,8342		0,0,4171	no	coding-synonymous	ADAMTS8	NM_007037.4		0,53,6134	TT,TC,CC		0.0,1.3145,0.4283		499/890	130284495	53,12321	2016	4171	6187	SO:0001819	synonymous_variant	11095	exon5			GCACGGCGTGCCG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1497G>A	11.37:g.130284495C>T		Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	271	127	0.468635	NM_007037	Q9NZS0	Silent	SNP	ENST00000257359.6	37	CCDS41732.1																																																																																			C|0.996;T|0.004	0.004	strong		0.662	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130284495	C	T	130284495	2	4	22	1	0	0	0	0	0	0	0	1	272	755	27	1		1	ADAMTS8	11	130284495	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	292842	130284495	4722021	6560	11668										
ADAMTS15	170689	hgsc.bcm.edu	37	chr11	130318935	130318935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggctctgagccagagCgggaggtagtcgttcccatc	15	11	1	2	rs146878786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:130318935C>A	ENST00000299164.2	+	1	67	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	23						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGAGCCAGAGCGGGAGGTAGT	0.662													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		14248	0.0		0.0	False		,,,				2504	0.0				p.R23R		Atlas-SNP	.											.	ADAMTS15	103	.	0			c.C67A						PASS	.	C		46,4356	44.6+/-78.6	0,46,2155	29	30	30		67	2.4	0.4	11	dbSNP_134	30	0,8594		0,0,4297	no	coding-synonymous	ADAMTS15	NM_139055.2		0,46,6452	AA,AC,CC		0.0,1.045,0.354		23/951	130318935	46,12950	2201	4297	6498	SO:0001819	synonymous_variant	170689	exon1			CCAGAGCGGGAGG	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.67C>A	11.37:g.130318935C>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	59	24	0.40678	NM_139055	Q32MI6	Silent	SNP	ENST00000299164.2	37	CCDS8488.1																																																																																			C|0.997;A|0.003	0.003	strong		0.662	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		A	130318935	C	A	130318935	2	1	22	1	0	0	0	0	0	0	0	1	260	759	27	4		4	ADAMTS15	11	130318935	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34440	130318935	4687581	6561	11669										
IGSF9B	22997	hgsc.bcm.edu	37	chr11	133789790	133789790	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggtagccggtggccagaGtggtgaagcccatggcgggc	19	9	0	2	rs200373794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:133789790G>C	ENST00000321016.8	-	18	4060	c.3830C>G	c.(3829-3831)aCt>aGt	p.T1277S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T1277S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1277	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTGGCCAGAGTGGTGAAGCC	0.677													G|||	20	0.00399361	0.0151	0.0	5008	,	,		12387	0.0		0.0	False		,,,				2504	0.0				p.T1277S		Atlas-SNP	.											.	IGSF9B	290	.	0			c.C3830G						PASS	.	G	SER/THR	55,3777		1,53,1862	24	32	30		3830	4.8	0.9	11	dbSNP_132	30	1,8223		0,1,4111	yes	missense	IGSF9B	NM_014987.1	58	1,54,5973	CC,CG,GG		0.0122,1.4353,0.4645	benign	1277/1350	133789790	56,12000	1916	4112	6028	SO:0001583	missense	22997	exon18			GCCAGAGTGGTGA	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3830C>G	11.37:g.133789790G>C	ENSP00000317980:p.Thr1277Ser	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	91	46	0.505495	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	G	12.95	2.091421	0.36952	0.014353	1.22E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.76	4.76	0.60689	.	0.000000	0.44688	D	0.000431	T	0.37320	0.0999	N	0.12182	0.205	0.38308	D	0.943176	B	0.06786	0.001	B	0.04013	0.001	T	0.35301	-0.9794	10	0.28530	T	0.3	.	17.5598	0.87902	0.0:0.0:1.0:0.0	.	1277	Q9UPX0	TUTLB_HUMAN	S	1277;1119	ENSP00000317980:T1277S;ENSP00000436552:T1119S	ENSP00000317980:T1277S	T	-	2	0	IGSF9B	133295000	1.000000	0.71417	0.926000	0.36857	0.814000	0.46013	8.633000	0.90999	2.484000	0.83849	0.555000	0.69702	ACT	.	.	weak		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		C	133789790	G	C	133789790	3	2	22	1	0	0	0	0	1	0	0	0	7606	1029	36	4	227	4	IGSF9B	11	133789790	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3470855	133789790	1216726	6562	11670										
IGSF9B	22997	hgsc.bcm.edu	37	chr11	133815981	133815981	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactcagggtccacgtgcggCgggtagtagccaaacttgat	13	10	1	1	rs10894768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:133815981C>G	ENST00000321016.8	-	2	467	c.237G>C	c.(235-237)ccG>ccC	p.P79P	IGSF9B_ENST00000533871.2_Silent_p.P79P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	79	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCACGTGCGGCGGGTAGTAGC	0.617													G|||	1776	0.354633	0.3011	0.438	5008	,	,		16482	0.5208		0.2992	False		,,,				2504	0.2536				p.P79P		Atlas-SNP	.											.	IGSF9B	290	.	0			c.G237C						PASS	.	G		1154,3082		154,846,1118	48	59	55		237	-11.4	0	11	dbSNP_120	55	2510,5934		370,1770,2082	no	coding-synonymous	IGSF9B	NM_014987.1		524,2616,3200	GG,GC,CC		29.7252,27.2427,28.8959		79/1350	133815981	3664,9016	2118	4222	6340	SO:0001819	synonymous_variant	22997	exon2			GTGCGGCGGGTAG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.237G>C	11.37:g.133815981C>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	146	59	0.40411	NM_014987	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																				C|0.633;G|0.367	0.367	strong		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		G	133815981	C	G	133815981	2	3	22	1	0	0	0	0	0	0	0	1	7606	755	27	4		4	IGSF9B	11	133815981	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26191	133815981	1190535	6563	11671										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134038949	134038949	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggcaaaactccccgaaGctgcaaaggtgagagaaaca	11	11	0	2	rs7927108	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134038949G>T	ENST00000534548.2	-	25	3166	c.3102C>A	c.(3100-3102)agC>agA	p.S1034R		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1034			S -> R (in dbSNP:rs7927108).		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)		ACTCCCCGAAGCTGCAAAGGT	0.433													G|||	165	0.0329473	0.1195	0.0101	5008	,	,		20928	0.0		0.0	False		,,,				2504	0.0				p.S1034R		Atlas-SNP	.											.	NCAPD3	141	.	0			c.C3102A						PASS	.	G	ARG/SER	400,4002	198.1+/-222.0	11,378,1812	54	53	53		3102	-4.5	0.4	11	dbSNP_116	53	2,8592	2.2+/-6.3	0,2,4295	yes	missense-near-splice	NCAPD3	NM_015261.2	110	11,380,6107	TT,TG,GG		0.0233,9.0868,3.0933	benign	1034/1499	134038949	402,12594	2201	4297	6498	SO:0001630	splice_region_variant	23310	exon25			CCCGAAGCTGCAA	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.3102-1C>A	11.37:g.134038949G>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	40	16	0.4	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	55	0.025183150183150184	53	0.10772357723577236	2	0.0055248618784530384	0	0.0	0	0.0	G	8.070	0.770068	0.15983	0.090868	2.33E-4	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.46063	0.88;0.88	5.57	-4.49	0.03504	Armadillo-like helical (1);Armadillo-type fold (1);	0.288722	0.49305	N	0.000151	T	0.00384	0.0012	L	0.29908	0.895	0.80722	D	1	B	0.23937	0.094	B	0.28638	0.092	T	0.15292	-1.0442	10	0.13853	T	0.58	.	3.0773	0.06251	0.313:0.3092:0.2902:0.0876	rs7927108;rs52805171;rs7927108	1034	P42695	CNDD3_HUMAN	R	1034;70	ENSP00000433681:S1034R;ENSP00000435173:S70R	ENSP00000435173:S70R	S	-	3	2	NCAPD3	133544159	0.168000	0.22989	0.419000	0.26584	0.457000	0.32468	-0.280000	0.08468	-0.683000	0.05190	-0.258000	0.10820	AGC	G|0.966;T|0.034	0.034	strong		0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Missense_Mutation	T	134038949	G	T	134038949	5	4	22	1	0	0	0	0	0	0	1	0	10206	985	34	4	1438	4	NCAPD3	11	134038949	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222968	134038949	967567	6564	11672										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134048592	134048592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacctctgacctggggggGtggctgagacgctggggcct	18	10	1	3	rs34739733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134048592G>T	ENST00000534548.2	-	22	2783	c.2719C>A	c.(2719-2721)Ccc>Acc	p.P907T	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	907			P -> T (in dbSNP:rs34739733).		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)		ACCTGGGGGGGTGGCTGAGAC	0.522													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0				p.P907T		Atlas-SNP	.											.	NCAPD3	141	.	0			c.C2719A						PASS	.	G	THR/PRO	55,4347	54.2+/-90.2	0,55,2146	92	94	93		2719	4.1	0	11	dbSNP_126	93	0,8594		0,0,4297	yes	missense	NCAPD3	NM_015261.2	38	0,55,6443	TT,TG,GG		0.0,1.2494,0.4232	benign	907/1499	134048592	55,12941	2201	4297	6498	SO:0001583	missense	23310	exon22			GGGGGGGTGGCTG	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.2719C>A	11.37:g.134048592G>T	ENSP00000433681:p.Pro907Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	138	66	0.478261	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	8.015	0.758394	0.15846	0.012494	0.0	ENSG00000151503	ENST00000534548	T	0.21734	1.99	6.03	4.13	0.48395	Armadillo-like helical (1);Armadillo-type fold (1);	0.330969	0.32918	N	0.005489	T	0.09512	0.0234	L	0.31664	0.95	0.40749	D	0.982908	B	0.33413	0.411	B	0.29353	0.101	T	0.09530	-1.0670	10	0.14656	T	0.56	-4.2164	11.7991	0.52116	0.0:0.1196:0.6321:0.2483	rs34739733	907	P42695	CNDD3_HUMAN	T	907	ENSP00000433681:P907T	ENSP00000434168:P907T	P	-	1	0	NCAPD3	133553802	1.000000	0.71417	0.001000	0.08648	0.115000	0.19883	4.737000	0.62066	0.850000	0.35239	0.655000	0.94253	CCC	G|0.995;T|0.005	0.005	strong		0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134048592	G	T	134048592	3	4	22	1	0	0	0	0	1	0	0	0	10206	1261	44	4	1833	4	NCAPD3	11	134048592	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9643	134048592	957924	6565	11673										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134055275	134055275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattctgctgtagtccagcCtgggtgaggagccagcaatc	12	10	1	1	rs61744119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134055275C>T	ENST00000534548.2	-	17	2256	c.2192G>A	c.(2191-2193)aGg>aAg	p.R731K	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	731					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)		GTAGTCCAGCCTGGGTGAGGA	0.433													c|||	20	0.00399361	0.0136	0.0029	5008	,	,		16996	0.0		0.0	False		,,,				2504	0.0				p.R731K		Atlas-SNP	.											.	NCAPD3	141	.	0			c.G2192A						PASS	.	T	LYS/ARG	55,4347	52.3+/-87.9	0,55,2146	67	64	65		2192	-2.9	0.6	11	dbSNP_129	65	0,8594		0,0,4297	yes	missense	NCAPD3	NM_015261.2	26	0,55,6443	TT,TC,CC		0.0,1.2494,0.4232	benign	731/1499	134055275	55,12941	2201	4297	6498	SO:0001583	missense	23310	exon17			TCCAGCCTGGGTG	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.2192G>A	11.37:g.134055275C>T	ENSP00000433681:p.Arg731Lys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	134	74	0.552239	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	c	0.387	-0.925700	0.02377	0.012494	0.0	ENSG00000151503	ENST00000534548	T	0.16743	2.32	5.95	-2.94	0.05581	Armadillo-like helical (1);Armadillo-type fold (1);	0.333488	0.38164	N	0.001795	T	0.01387	0.0045	N	0.00104	-2.125	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.02654	T	1	-5.8849	6.0997	0.20041	0.087:0.072:0.1785:0.6625	.	731	P42695	CNDD3_HUMAN	K	731	ENSP00000433681:R731K	ENSP00000431612:R731K	R	-	2	0	NCAPD3	133560485	0.426000	0.25506	0.571000	0.28486	0.014000	0.08584	0.322000	0.19576	-1.200000	0.02662	-1.563000	0.00883	AGG	C|0.995;T|0.005	0.005	strong		0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134055275	C	T	134055275	3	4	22	1	0	0	0	0	1	0	0	0	10206	681	24	2	2380	2	NCAPD3	11	134055275	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6683	134055275	951241	6566	11674										
ACAD8	27034	hgsc.bcm.edu	37	chr11	134131033	134131033	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgaggggcagggcttcctCattgccgtgagaggactgaa	16	9	1	2	rs36115758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134131033C>T	ENST00000281182.4	+	7	907	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ACAD8_ENST00000537423.1_Silent_p.L190L|ACAD8_ENST00000374752.4_Silent_p.L140L|ACAD8_ENST00000543332.1_Silent_p.L169L|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	267					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	AGGGCTTCCTCATTGCCGTGA	0.597													C|||	41	0.0081869	0.0287	0.0043	5008	,	,		18819	0.0		0.0	False		,,,				2504	0.0				p.L267L	GBM(65;238 1125 33403 41853 48889)	Atlas-SNP	.											.	ACAD8	33	.	0			c.C801T						PASS	.	C		84,4318	71.4+/-109.4	1,82,2118	68	65	66		801	0.9	1	11	dbSNP_126	66	0,8594		0,0,4297	no	coding-synonymous	ACAD8	NM_014384.2		1,82,6415	TT,TC,CC		0.0,1.9082,0.6464		267/416	134131033	84,12912	2201	4297	6498	SO:0001819	synonymous_variant	27034	exon7			CTTCCTCATTGCC	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.801C>T	11.37:g.134131033C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_014384	B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	CCDS8498.1																																																																																			C|0.993;T|0.007	0.007	strong		0.597	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134131033	C	T	134131033	2	4	22	1	0	0	0	0	0	0	0	1	110	813	29	2		2	ACAD8	11	134131033	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75758	134131033	875483	6567	11675										
GLB1L2	89944	hgsc.bcm.edu	37	chr11	134226278	134226278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccgcatacatgccctaCgtcaagaaggtaagaatcct	8	13	1	2	rs3802928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134226278C>T	ENST00000535456.2	+	6	830	c.642C>T	c.(640-642)taC>taT	p.Y214Y	GLB1L2_ENST00000389881.3_Silent_p.Y214Y|GLB1L2_ENST00000339772.7_Silent_p.Y214Y|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	214					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.Y214Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACATGCCCTACGTCAAGAAGG	0.458													C|||	634	0.126597	0.2027	0.0677	5008	,	,		17955	0.1944		0.0596	False		,,,				2504	0.0644				p.Y214Y		Atlas-SNP	.											GLB1L2,NS,carcinoma,0,1	GLB1L2	79	1	1	Substitution - coding silent(1)	stomach(1)	c.C642T						scavenged	.	C		833,3569	330.7+/-301.6	85,663,1453	128	135	132		642	-1.6	0	11	dbSNP_107	132	415,8179	130.2+/-188.1	15,385,3897	no	coding-synonymous	GLB1L2	NM_138342.3		100,1048,5350	TT,TC,CC		4.829,18.9232,9.603		214/637	134226278	1248,11748	2201	4297	6498	SO:0001819	synonymous_variant	89944	exon6			GCCCTACGTCAAG		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.642C>T	11.37:g.134226278C>T		Somatic	77	1	0.012987		WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_138342	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	CCDS31724.1	264	0.12087912087912088	89	0.18089430894308944	20	0.055248618784530384	115	0.20104895104895104	40	0.052770448548812667	C	0.027	-1.362446	0.01235	0.189232	0.04829	ENSG00000149328	ENST00000525089;ENST00000533324	.	.	.	5.76	-1.59	0.08453	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.22779	P	0.9987403	.	.	.	.	.	.	T	0.17289	-1.0374	3	.	.	.	-11.4588	11.0134	0.47675	0.0:0.4036:0.0:0.5964	rs3802928;rs57061991;rs3802928	.	.	.	C	153;42	.	.	R	+	1	0	GLB1L2	133731488	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-1.437000	0.02419	-0.616000	0.05671	-0.137000	0.14449	CGT	C|0.888;T|0.112	0.112	strong		0.458	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		T	134226278	C	T	134226278	2	4	22	1	0	0	0	0	0	0	0	1	6429	547	19	1		1	GLB1L2	11	134226278	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95245	134226278	780238	6568	11676										
GLB1L2	89944	hgsc.bcm.edu	37	chr11	134244123	134244123	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgtccatcagctccacCccttgtgacacctttctgaa	6	15	2	2	rs3741097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr11:134244123C>G	ENST00000535456.2	+	17	1868	c.1680C>G	c.(1678-1680)acC>acG	p.T560T	GLB1L2_ENST00000389881.3_Silent_p.T560T|GLB1L2_ENST00000339772.7_Silent_p.T560T|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	560					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCAGCTCCACCCCTTGTGACA	0.552													C|||	1333	0.266174	0.0877	0.1527	5008	,	,		19376	0.5089		0.2097	False		,,,				2504	0.3957				p.T560T		Atlas-SNP	.											.	GLB1L2	79	.	0			c.C1680G						PASS	.	C		467,3935	219.7+/-237.4	27,413,1761	225	188	200		1680	-2.1	0	11	dbSNP_107	200	1752,6842	317.8+/-313.4	167,1418,2712	no	coding-synonymous	GLB1L2	NM_138342.3		194,1831,4473	GG,GC,CC		20.3863,10.6088,17.0745		560/637	134244123	2219,10777	2201	4297	6498	SO:0001819	synonymous_variant	89944	exon17			CTCCACCCCTTGT		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1680C>G	11.37:g.134244123C>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	173	84	0.485549	NM_138342	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	CCDS31724.1	552	0.25274725274725274	43	0.08739837398373984	56	0.15469613259668508	294	0.513986013986014	159	0.20976253298153033	C	3.526	-0.096667	0.07010	0.106088	0.203863	ENSG00000149328	ENST00000525089	.	.	.	5.56	-2.06	0.07298	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.43164	P	0.005040999999999962	.	.	.	.	.	.	T	0.47433	-0.9118	3	.	.	.	-11.6576	0.8726	0.01217	0.1675:0.3217:0.1904:0.3204	rs3741097;rs3741097	.	.	.	A	499	.	.	P	+	1	0	GLB1L2	133749333	0.054000	0.20591	0.013000	0.15412	0.035000	0.12851	0.246000	0.18160	-0.202000	0.10268	-0.885000	0.02943	CCC	C|0.793;G|0.207	0.207	strong		0.552	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		G	134244123	C	G	134244123	2	3	22	1	0	0	0	0	0	0	0	1	6429	610	22	4		4	GLB1L2	11	134244123	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17845	134244123	762393	6569	11677										
WNK1	65125	hgsc.bcm.edu	37	chr12	988894	988894	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcagtaccctgtctctcaGattcccatatcaactcctca	3	17	5	1	rs9804992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:988894G>A	ENST00000315939.6	+	11	3172	c.2529G>A	c.(2527-2529)caG>caA	p.Q843Q	WNK1_ENST00000340908.4_Silent_p.Q436Q|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Silent_p.Q1341Q|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	843					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.Q843Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTCTCTCAGATTCCCATAT	0.547													A|||	730	0.145767	0.1203	0.2003	5008	,	,		19266	0.1091		0.1382	False		,,,				2504	0.1871				p.Q843Q	Colon(19;451 567 6672 12618 28860)	Atlas-SNP	.											WNK1,NS,carcinoma,0,2	WNK1	403	2	1	Substitution - coding silent(1)	stomach(1)	c.G2529A						PASS	.	A	,,,	573,3833	773.5+/-414.0	34,505,1664	204	176	185		,,2529,	-4.9	0.8	12	dbSNP_119	185	1349,7251	756.1+/-407.5	103,1143,3054	no	intron,intron,coding-synonymous,intron	WNK1	NM_001184985.1,NM_014823.2,NM_018979.3,NM_213655.4	,,,	137,1648,4718	AA,AG,GG		15.686,13.005,14.7778	,,,	,,843/2383,	988894	1922,11084	2203	4300	6503	SO:0001819	synonymous_variant	65125	exon11			CTCTCAGATTCCC	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2529G>A	12.37:g.988894G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	178	82	0.460674	NM_018979	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																			G|0.860;A|0.140	0.140	strong		0.547	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		A	988894	G	A	988894	2	1	22	1	0	0	0	0	0	0	0	1	17374	933	33	2		2	WNK1	12	988894	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10		988894	132863001	6570	11678										
FBXL14	144699	hgsc.bcm.edu	37	chr12	1702561	1702561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggcccgtcagccctcgGgagatgtgctttagagaaag	13	11	2	2	rs35524129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1702561G>A	ENST00000339235.3	-	1	770	c.672C>T	c.(670-672)tcC>tcT	p.S224S	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	224					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TCAGCCCTCGGGAGATGTGCT	0.657													g|||	234	0.0467252	0.1006	0.013	5008	,	,		20364	0.0675		0.0169	False		,,,				2504	0.0072				p.S224S		Atlas-SNP	.											.	FBXL14	19	.	0			c.C672T						PASS	.	A		330,4076	169.8+/-200.3	14,302,1887	40	37	38		672	-1.1	1	12	dbSNP_126	38	112,8488	57.9+/-119.4	1,110,4189	no	coding-synonymous	FBXL14	NM_152441.2		15,412,6076	AA,AG,GG		1.3023,7.4898,3.3984		224/419	1702561	442,12564	2203	4300	6503	SO:0001819	synonymous_variant	144699	exon1			CCCTCGGGAGATG	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.672C>T	12.37:g.1702561G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_152441		Silent	SNP	ENST00000339235.3	37	CCDS8509.1																																																																																			G|0.964;A|0.036	0.036	strong		0.657	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		A	1702561	G	A	1702561	2	1	22	1	0	0	0	0	0	0	0	1	5710	1219	43	2		2	FBXL14	12	1702561	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	713667	1702561	132149334	6571	11679										
ADIPOR2	79602	hgsc.bcm.edu	37	chr12	1890199	1890199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccattatagtctcccaGtgggacatgtttgccacccc	9	14	1	0	rs16928751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1890199G>A	ENST00000357103.4	+	6	1046	c.795G>A	c.(793-795)caG>caA	p.Q265Q		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	265					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TAGTCTCCCAGTGGGACATGT	0.438													G|||	532	0.10623	0.208	0.0663	5008	,	,		18929	0.0258		0.1252	False		,,,				2504	0.0603				p.Q265Q		Atlas-SNP	.											.	ADIPOR2	30	.	0			c.G795A						PASS	.	G		895,3511	345.1+/-308.4	98,699,1406	119	115	116		795	4.8	1	12	dbSNP_123	116	1048,7552	221.5+/-258.9	58,932,3310	no	coding-synonymous	ADIPOR2	NM_024551.2		156,1631,4716	AA,AG,GG		12.186,20.3132,14.9393		265/387	1890199	1943,11063	2203	4300	6503	SO:0001819	synonymous_variant	79602	exon6			CTCCCAGTGGGAC	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.795G>A	12.37:g.1890199G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	195	84	0.430769	NM_024551	Q53YY5|Q9H737	Silent	SNP	ENST00000357103.4	37	CCDS8511.1																																																																																			G|0.876;A|0.124	0.124	strong		0.438	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		A	1890199	G	A	1890199	2	1	22	1	0	0	0	0	0	0	0	1	319	1020	36	2		2	ADIPOR2	12	1890199	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	187638	1890199	131961696	6572	11680										
ADIPOR2	79602	hgsc.bcm.edu	37	chr12	1893077	1893077	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctaggcctgagtggaatCattcctaccttgcactatgt	10	11	1	1	rs35854772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1893077C>A	ENST00000357103.4	+	7	1121	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	290					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TGAGTGGAATCATTCCTACCT	0.493													C|||	513	0.102436	0.1952	0.0663	5008	,	,		18446	0.0258		0.1252	False		,,,				2504	0.0583				p.I290I		Atlas-SNP	.											.	ADIPOR2	30	.	0			c.C870A						PASS	.	C		858,3548	335.5+/-303.9	88,682,1433	99	92	94		870	5.7	1	12	dbSNP_126	94	1047,7553	221.5+/-258.9	58,931,3311	no	coding-synonymous	ADIPOR2	NM_024551.2		146,1613,4744	AA,AC,CC		12.1744,19.4734,14.6471		290/387	1893077	1905,11101	2203	4300	6503	SO:0001819	synonymous_variant	79602	exon7			TGGAATCATTCCT	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.870C>A	12.37:g.1893077C>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	183	87	0.47541	NM_024551	Q53YY5|Q9H737	Silent	SNP	ENST00000357103.4	37	CCDS8511.1																																																																																			C|0.873;A|0.127	0.127	strong		0.493	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		A	1893077	C	A	1893077	2	1	22	1	0	0	0	0	0	0	0	1	319	816	29	4		4	ADIPOR2	12	1893077	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2878	1893077	131958818	6573	11681										
ADIPOR2	79602	hgsc.bcm.edu	37	chr12	1893170	1893170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgatggccagcctctaCatcacaggagctgccctgta	10	13	2	1	rs9805042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1893170C>T	ENST00000357103.4	+	7	1214	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	321					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.Y321Y(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CCAGCCTCTACATCACAGGAG	0.547													C|||	1189	0.23742	0.5416	0.111	5008	,	,		18023	0.1111		0.1302	False		,,,				2504	0.1564				p.Y321Y		Atlas-SNP	.											ADIPOR2,NS,carcinoma,0,1	ADIPOR2	30	1	1	Substitution - coding silent(1)	stomach(1)	c.C963T						PASS	.	C		2031,2375	565.5+/-381.7	484,1063,656	90	84	86		963	-5.4	0.2	12	dbSNP_119	86	1097,7503	228.6+/-263.6	61,975,3264	no	coding-synonymous	ADIPOR2	NM_024551.2		545,2038,3920	TT,TC,CC		12.7558,46.0962,24.0504		321/387	1893170	3128,9878	2203	4300	6503	SO:0001819	synonymous_variant	79602	exon7			CCTCTACATCACA	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.963C>T	12.37:g.1893170C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	159	155	0.974843	NM_024551	Q53YY5|Q9H737	Silent	SNP	ENST00000357103.4	37	CCDS8511.1																																																																																			C|0.770;T|0.230	0.230	strong		0.547	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		T	1893170	C	T	1893170	2	4	22	1	0	0	0	0	0	0	0	1	319	489	17	2		2	ADIPOR2	12	1893170	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93	1893170	131958725	6574	11682										
CACNA2D4	93589	hgsc.bcm.edu	37	chr12	1955786	1955786	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaccttctcggagcccacGaacaagctgcttctcaggag	11	13	2	1	rs11836202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1955786G>A	ENST00000382722.5	-	24	2678	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585708.1_Silent_p.F708F|CACNA2D4_ENST00000587995.1_Silent_p.F747F|CACNA2D4_ENST00000586184.1_Silent_p.F772F|CACNA2D4_ENST00000585732.1_Silent_p.F633F|CACNA2D4_ENST00000588077.1_Silent_p.F708F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	772					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGGAGCCCACGAACAAGCTGC	0.647													G|||	894	0.178514	0.087	0.1354	5008	,	,		17398	0.4206		0.0139	False		,,,				2504	0.2526				p.F772F	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.C2316T						PASS	.	G		301,3811		8,285,1763	41	48	46		2316	-0.2	1	12	dbSNP_120	46	135,8249		2,131,4059	no	coding-synonymous	CACNA2D4	NM_172364.4		10,416,5822	AA,AG,GG		1.6102,7.32,3.4891		772/1138	1955786	436,12060	2056	4192	6248	SO:0001819	synonymous_variant	93589	exon24			GCCCACGAACAAG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2316C>T	12.37:g.1955786G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	55	35	0.636364	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																			G|0.860;A|0.140	0.140	strong		0.647	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	1955786	G	A	1955786	2	1	22	1	0	0	0	0	0	0	0	1	2551	1049	37	1		1	CACNA2D4	12	1955786	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62616	1955786	131896109	6575	11683										
CACNA2D4	93589	hgsc.bcm.edu	37	chr12	1965369	1965369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcaccggccagggccaGgtctgggtgaagcaagtcat	14	12	3	1	rs2286372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:1965369G>A	ENST00000382722.5	-	21	2397	c.2035C>T	c.(2035-2037)Ctg>Ttg	p.L679L	CACNA2D4_ENST00000586184.1_Silent_p.L679L|CACNA2D4_ENST00000585708.1_Silent_p.L615L|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000587995.1_Silent_p.L654L|CACNA2D4_ENST00000585732.1_Silent_p.L540L|CACNA2D4_ENST00000588077.1_Silent_p.L615L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	679					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCCAGGGCCAGGTCTGGGTGA	0.507													G|||	871	0.173922	0.0961	0.1412	5008	,	,		21761	0.4226		0.0139	False		,,,				2504	0.2106				p.L679L	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.C2035T						PASS	.	G		337,3587		19,299,1644	141	143	143		2035	2.5	0.6	12	dbSNP_100	143	147,8139		3,141,3999	no	coding-synonymous	CACNA2D4	NM_172364.4		22,440,5643	AA,AG,GG		1.7741,8.5882,3.964		679/1138	1965369	484,11726	1962	4143	6105	SO:0001819	synonymous_variant	93589	exon21			GGGCCAGGTCTGG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2035C>T	12.37:g.1965369G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	82	49	0.597561	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																			G|0.840;A|0.160	0.160	strong		0.507	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	1965369	G	A	1965369	2	1	22	1	0	0	0	0	0	0	0	1	2551	991	35	2		2	CACNA2D4	12	1965369	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9583	1965369	131886526	6576	11684										
DCP1B	196513	hgsc.bcm.edu	37	chr12	2102455	2102455	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatttctgtagagaaggaaAgggtcctggagttggaaatc	14	5	1	1	rs150415068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:2102455A>C	ENST00000280665.6	-	3	373	c.294T>G	c.(292-294)ccT>ccG	p.P98P	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	98					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGAGAAGGAAAGGGTCCTGGA	0.403													A|||	4	0.000798722	0.0	0.0014	5008	,	,		19112	0.0		0.003	False		,,,				2504	0.0				p.P98P		Atlas-SNP	.											DCP1B,rectum,carcinoma,0,6	DCP1B	63	6	0			c.T294G						PASS	.	A		2,4404	4.2+/-10.8	0,2,2201	148	156	153		294	0.6	1	12	dbSNP_134	153	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous	DCP1B	NM_152640.3		0,21,6482	CC,CA,AA		0.2209,0.0454,0.1615		98/618	2102455	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	196513	exon3			AAGGAAAGGGTCC	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.294T>G	12.37:g.2102455A>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	185	85	0.459459	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			A|0.998;C|0.002	0.002	strong		0.403	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2102455	A	C	2102455	2	2	22	1	0	0	0	0	0	0	0	1	4299	59	3	5		5	DCP1B	12	2102455	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	137086	2102455	131749440	6577	11685										
TSPAN9	10867	hgsc.bcm.edu	37	chr12	3387697	3387697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcagccaacctggtcatTgccataggcaccattgtcat	8	13	3	0	rs16930370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:3387697T>C	ENST00000011898.5	+	4	335	c.174T>C	c.(172-174)atT>atC	p.I58I	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.I58I|TSPAN9_ENST00000407263.1_Silent_p.I58I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	58						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			ACCTGGTCATTGCCATAGGCA	0.587													C|||	865	0.172724	0.2761	0.1571	5008	,	,		21227	0.1022		0.1839	False		,,,				2504	0.1053				p.I58I		Atlas-SNP	.											.	TSPAN9	20	.	0			c.T174C						PASS	.	C	,	1251,3155	704.2+/-407.1	178,895,1130	156	137	143		174,174	0.8	1	12	dbSNP_123	143	1522,7078	747.6+/-407.3	144,1234,2922	no	coding-synonymous,coding-synonymous	TSPAN9	NM_001168320.1,NM_006675.4	,	322,2129,4052	CC,CT,TT		17.6977,28.3931,21.3209	,	58/240,58/240	3387697	2773,10233	2203	4300	6503	SO:0001819	synonymous_variant	10867	exon4			GGTCATTGCCATA	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.174T>C	12.37:g.3387697T>C		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	221	221	1	NM_006675	D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	CCDS8520.1																																																																																			T|0.797;C|0.203	0.203	strong		0.587	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		C	3387697	T	C	3387697	2	2	22	1	0	0	0	0	0	0	0	1	16651	1800	63	2		2	TSPAN9	12	3387697	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1285242	3387697	130464198	6578	11686										
TSPAN9	10867	hgsc.bcm.edu	37	chr12	3389559	3389559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggcaggtgaacgagaaCgccaagaaggacctgaagga	15	9	0	4	rs877089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:3389559C>T	ENST00000011898.5	+	6	503	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.N114N|TSPAN9_ENST00000407263.1_Silent_p.N114N	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	114						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGAACGAGAACGCCAAGAAGG	0.617													c|||	104	0.0207668	0.0598	0.0173	5008	,	,		18186	0.0		0.0099	False		,,,				2504	0.0031				p.N114N		Atlas-SNP	.											.	TSPAN9	20	.	0			c.C342T						PASS	.		,	237,4169	138.4+/-174.2	3,231,1969	136	92	107		342,342	-3.5	1	12	dbSNP_86	107	130,8470	65.6+/-127.9	1,128,4171	no	coding-synonymous,coding-synonymous	TSPAN9	NM_001168320.1,NM_006675.4	,	4,359,6140	TT,TC,CC		1.5116,5.379,2.8218	,	114/240,114/240	3389559	367,12639	2203	4300	6503	SO:0001819	synonymous_variant	10867	exon6			CGAGAACGCCAAG	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.342C>T	12.37:g.3389559C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	38	13	0.342105	NM_006675	D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	CCDS8520.1																																																																																			C|0.974;T|0.026	0.026	strong		0.617	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		T	3389559	C	T	3389559	2	4	22	1	0	0	0	0	0	0	0	1	16651	535	19	1		1	TSPAN9	12	3389559	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1862	3389559	130462336	6579	11687										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3747496	3747496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgattctgcggagcggccGggggtacggacccccaggcc	17	13	1	1	rs58583720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:3747496G>C	ENST00000440314.2	-	14	1869	c.1396C>G	c.(1396-1398)Cgg>Ggg	p.R466G		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CGGAGCGGCCGGGGGTACGGA	0.612													G|||	59	0.0117812	0.0416	0.0058	5008	,	,		14651	0.0		0.0	False		,,,				2504	0.0				p.R466G		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.C1396G						PASS	.	G	GLY/ARG	50,1334		1,48,643	20	24	23		1396	3.5	0	12	dbSNP_129	23	0,3182		0,0,1591	yes	missense	EFCAB4B	NM_001144958.1	125	1,48,2234	CC,CG,GG		0.0,3.6127,1.0951	benign	466/732	3747496	50,4516	692	1591	2283	SO:0001583	missense	84766	exon14			GCGGCCGGGGGTA																												ENST00000440314.2:c.1396C>G	12.37:g.3747496G>C	ENSP00000409382:p.Arg466Gly	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	46	0.567901	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000440314.2	37	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054114	0.36277	0.036127	0.0	ENSG00000130038	ENST00000440314	T	0.61274	0.12	4.4	3.51	0.40186	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.36197	D	0.85047	P	0.42620	0.785	P	0.45506	0.483	T	0.53479	-0.8433	8	0.45353	T	0.12	.	10.1568	0.42827	0.0984:0.0:0.9016:0.0	rs58583720	466	Q9BSW2-2	.	G	466	ENSP00000409382:R466G	ENSP00000409382:R466G	R	-	1	2	EFCAB4B	3617757	0.331000	0.24713	0.007000	0.13788	0.194000	0.23727	4.138000	0.58017	1.074000	0.40909	0.557000	0.71058	CGG	A|0.002;C|0.001;G|0.997	0.001	strong		0.612	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398640.2			C	3747496	G	C	3747496	3	2	22	1	0	0	0	0	1	0	0	0	4937	1115	39	4	827	4	EFCAB4B	12	3747496	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	357937	3747496	130104399	6580	11688										
C12orf5	57103	hgsc.bcm.edu	37	chr12	4459032	4459032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattttgcaaagatatgacGgtaaagtatgactcaagact	8	5	1	4	rs7309402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:4459032G>A	ENST00000179259.4	+	4	307	c.240G>A	c.(238-240)acG>acA	p.T80T	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	80					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGATATGACGGTAAAGTATG	0.353													G|||	1369	0.273363	0.3109	0.2435	5008	,	,		19888	0.5109		0.0984	False		,,,				2504	0.1789				p.T80T	Colon(1;100 192 35375 49454 52532)	Atlas-SNP	.											.	C12orf5	28	.	0			c.G240A						PASS	.	G		1288,3118	438.8+/-345.5	192,904,1107	98	101	100		240	-1	0.9	12	dbSNP_116	100	651,7949	166.2+/-218.2	27,597,3676	no	coding-synonymous	C12orf5	NM_020375.2		219,1501,4783	AA,AG,GG		7.5698,29.2329,14.9085		80/271	4459032	1939,11067	2203	4300	6503	SO:0001819	synonymous_variant	57103	exon4			TATGACGGTAAAG	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"TP53-induced glycolysis and apoptosis regulator"	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.240G>A	12.37:g.4459032G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_020375	B2R840	Silent	SNP	ENST00000179259.4	37	CCDS8525.1																																																																																			G|0.742;A|0.258	0.258	strong		0.353	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		A	4459032	G	A	4459032	2	1	22	1	0	0	0	0	0	0	0	1	1694	1103	39	1		1	C12orf5	12	4459032	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	711536	4459032	129392863	6581	11689										
FGF6	2251	hgsc.bcm.edu	37	chr12	4554549	4554549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatctctccagctagcccgGcgcgagacctggacagcagg	12	15	1	1	rs17183529	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:4554549G>A	ENST00000228837.2	-	1	231	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	63			A -> V (in dbSNP:rs17183529). {ECO:0000269|Ref.2}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.A63V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGCTAGCCCGGCGCGAGACCT	0.642													G|||	21	0.00419329	0.0159	0.0	5008	,	,		17319	0.0		0.0	False		,,,				2504	0.0				p.A63V		Atlas-SNP	.											FGF6,colon,carcinoma,-1,2	FGF6	40	2	1	Substitution - Missense(1)	large_intestine(1)	c.C188T						PASS	.	G	VAL/ALA	57,4349	51.6+/-87.1	0,57,2146	88	83	85		188	4.1	0	12	dbSNP_123	85	0,8600		0,0,4300	no	missense	FGF6	NM_020996.1	64	0,57,6446	AA,AG,GG		0.0,1.2937,0.4383	benign	63/209	4554549	57,12949	2203	4300	6503	SO:0001583	missense	2251	exon1			AGCCCGGCGCGAG	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.188C>T	12.37:g.4554549G>A	ENSP00000228837:p.Ala63Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	89	44	0.494382	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	10.67	1.415816	0.25552	0.012937	0.0	ENSG00000111241	ENST00000228837	T	0.26810	1.71	5.0	4.09	0.47781	.	0.553031	0.20578	N	0.089588	T	0.18257	0.0438	L	0.49126	1.545	0.09310	N	0.999998	B	0.30146	0.27	B	0.34991	0.193	T	0.12578	-1.0542	10	0.36615	T	0.2	.	9.216	0.37348	0.0768:0.1473:0.7759:0.0	rs17183529	63	P10767	FGF6_HUMAN	V	63	ENSP00000228837:A63V	ENSP00000228837:A63V	A	-	2	0	FGF6	4424810	0.756000	0.28383	0.004000	0.12327	0.229000	0.25112	3.566000	0.53805	1.215000	0.43411	0.561000	0.74099	GCC	G|0.996;A|0.004	0.004	strong		0.642	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		A	4554549	G	A	4554549	3	1	22	1	0	0	0	0	1	0	0	0	5856	1203	42	2	450	2	FGF6	12	4554549	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95517	4554549	129297346	6582	11690										
DYRK4	8798	hgsc.bcm.edu	37	chr12	4702173	4702173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtttttcacacagaggccCtaaagctttttaagaaccag	8	9	1	2	rs2240763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:4702173C>T	ENST00000540757.2	+	4	284	c.124C>T	c.(124-126)Cta>Tta	p.L42L	DYRK4_ENST00000543431.1_Silent_p.L42L|DYRK4_ENST00000010132.5_Silent_p.L42L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	42						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACAGAGGCCCTAAAGCTTTT	0.507													C|||	698	0.139377	0.1657	0.0303	5008	,	,		18264	0.2639		0.0239	False		,,,				2504	0.1718				p.L42L		Atlas-SNP	.											DYRK4,NS,carcinoma,-2,1	DYRK4	75	1	0			c.C124T						PASS	.	C		664,3742	276.0+/-272.9	54,556,1593	73	79	77		124	3.7	1	12	dbSNP_98	77	270,8330	100.6+/-161.9	5,260,4035	no	coding-synonymous	DYRK4	NM_003845.1		59,816,5628	TT,TC,CC		3.1395,15.0704,7.1813		42/521	4702173	934,12072	2203	4300	6503	SO:0001819	synonymous_variant	8798	exon4			GAGGCCCTAAAGC	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.124C>T	12.37:g.4702173C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	108	49	0.453704	NM_003845	A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	CCDS8530.1																																																																																			C|0.897;T|0.103	0.103	strong		0.507	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			T	4702173	C	T	4702173	2	4	22	1	0	0	0	0	0	0	0	1	4858	680	24	2		2	DYRK4	12	4702173	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147624	4702173	129149722	6583	11691										
KCNA6	3742	hgsc.bcm.edu	37	chr12	4919267	4919267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtccgtgggccggagggAgagcaacaggatgcgggaga	21	7	0	2	rs758534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:4919267A>G	ENST00000280684.3	+	1	926	c.60A>G	c.(58-60)ggA>ggG	p.G20G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G20G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	20					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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GGCCGGAGGGAGAGCAACAGG	0.697										HNSCC(72;0.22)			G|||	2239	0.447085	0.4576	0.4121	5008	,	,		11913	0.4395		0.4433	False		,,,				2504	0.4693				p.G20G		Atlas-SNP	.											.	KCNA6	122	.	0			c.A60G						PASS	.	G		1862,2530		435,992,769	19	27	24		60	0.2	0.8	12	dbSNP_86	24	3511,5075		791,1929,1573	no	coding-synonymous	KCNA6	NM_002235.3		1226,2921,2342	GG,GA,AA		40.8922,42.3953,41.4008		20/530	4919267	5373,7605	2196	4293	6489	SO:0001819	synonymous_variant	3742	exon1			GGAGGGAGAGCAA	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.60A>G	12.37:g.4919267A>G		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	40	39	0.975	NM_002235		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																			A|0.580;G|0.420	0.420	strong		0.697	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		G	4919267	A	G	4919267	2	3	22	1	0	0	0	0	0	0	0	1	8007	291	11	3		3	KCNA6	12	4919267	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	217094	4919267	128932628	6584	11692										
NTF3	4908	hgsc.bcm.edu	37	chr12	5603632	5603632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaagtcagcattccagccGgtgattgcaatggacaccga	11	12	1	1	rs6332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:5603632G>A	ENST00000331010.6	+	1	335	c.252G>A	c.(250-252)ccG>ccA	p.P84P	NTF3_ENST00000423158.3_Silent_p.P97P|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	84					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CATTCCAGCCGGTGATTGCAA	0.622													A|||	2445	0.488219	0.5325	0.438	5008	,	,		16459	0.4583		0.503	False		,,,				2504	0.4796				p.P97P	GBM(194;1104 2182 8339 9578 18493)	Atlas-SNP	.											.	NTF3	50	.	0			c.G291A						PASS	.	A	,	2328,2078	560.3+/-380.4	627,1074,502	47	54	52		291,252	-11	0	12	dbSNP_52	52	4394,4206	561.4+/-387.8	1126,2142,1032	yes	coding-synonymous,coding-synonymous	NTF3	NM_001102654.1,NM_002527.4	,	1753,3216,1534	AA,AG,GG		48.907,47.163,48.3162	,	97/271,84/258	5603632	6722,6284	2203	4300	6503	SO:0001819	synonymous_variant	4908	exon2			CCAGCCGGTGATT		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.252G>A	12.37:g.5603632G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	42	19	0.452381	NM_001102654	B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	CCDS8538.1																																																																																			G|0.498;A|0.502	0.502	strong		0.622	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			A	5603632	G	A	5603632	2	1	22	1	0	0	0	0	0	0	0	1	10696	1103	39	1		1	NTF3	12	5603632	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	684365	5603632	128248263	6585	11693										
ANO2	57101	hgsc.bcm.edu	37	chr12	5841733	5841733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccaatttctggacagcagActggttgctctcctttagca	8	11	2	1	rs1860961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:5841733A>C	ENST00000356134.5	-	16	1572	c.1501T>G	c.(1501-1503)Tct>Gct	p.S501A	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.S500A|ANO2_ENST00000546188.1_Missense_Mutation_p.S501A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	505					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S501A(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGGACAGCAGACTGGTTGCTC	0.453													A|||	686	0.136981	0.2383	0.1311	5008	,	,		22847	0.1161		0.0746	False		,,,				2504	0.09				p.S500A		Atlas-SNP	.											ANO2,NS,carcinoma,0,1	ANO2	309	1	1	Substitution - Missense(1)	stomach(1)	c.T1498G						PASS	.	A	ALA/SER	872,3206		96,680,1263	128	124	125		1498	3.7	1	12	dbSNP_92	125	678,7696		35,608,3544	yes	missense	ANO2	NM_020373.2	99	131,1288,4807	CC,CA,AA		8.0965,21.383,12.4478	benign	500/999	5841733	1550,10902	2039	4187	6226	SO:0001583	missense	57101	exon15			CAGCAGACTGGTT	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1501T>G	12.37:g.5841733A>C	ENSP00000348453:p.Ser501Ala	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	170	90	0.529412	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		270	0.12362637362637363	118	0.23983739837398374	35	0.09668508287292818	71	0.12412587412587413	46	0.06068601583113457	A	8.258	0.810552	0.16537	0.21383	0.080965	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.65549	-0.16;-0.16;-0.16;0.68	4.84	3.66	0.41972	.	0.660666	0.15622	N	0.252809	T	0.00012	0.0000	N	0.04508	-0.205	0.48975	P	2.6199999999998447E-4	B	0.18741	0.03	B	0.15052	0.012	T	0.11203	-1.0597	9	0.09590	T	0.72	.	7.3722	0.26808	0.8984:0.0:0.1016:0.0	rs1860961;rs57832099;rs1860961	500	Q9NQ90-3	.	A	500;501;501;505;60	ENSP00000314048:S500A;ENSP00000348453:S501A;ENSP00000440981:S501A;ENSP00000443813:S60A	ENSP00000314048:S500A	S	-	1	0	ANO2	5711994	0.999000	0.42202	0.984000	0.44739	0.589000	0.36550	1.064000	0.30579	2.027000	0.59764	0.533000	0.62120	TCT	A|0.870;C|0.130	0.130	strong		0.453	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		C	5841733	A	C	5841733	3	2	22	1	0	0	0	0	1	0	0	0	697	275	10	5	1546	5	ANO2	12	5841733	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	238101	5841733	128010162	6586	11694										
VWF	7450	hgsc.bcm.edu	37	chr12	6094249	6094249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcactggtctgcattctggCggaggcgggctacttcacac	13	12	3	0	rs62641242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6094249C>T	ENST00000261405.5	-	40	7192	c.6938G>A	c.(6937-6939)cGc>cAc	p.R2313H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2313	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCATTCTGGCGGAGGCGGGC	0.597													C|||	5	0.000998403	0.0015	0.0014	5008	,	,		17767	0.0		0.002	False		,,,				2504	0.0				p.R2313H		Atlas-SNP	.											.	VWF	338	.	0			c.G6938A	GRCh37	CM070320	VWF	M	rs62641242	PASS	.	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	92	88	89	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6938	-2.6	0.1	12	dbSNP_129	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VWF	NM_000552.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	2313/2814	6094249	4,13002	2203	4300	6503	SO:0001583	missense	7450	exon40			TTCTGGCGGAGGC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6938G>A	12.37:g.6094249C>T	ENSP00000261405:p.Arg2313His	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	154	82	0.532468	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	6.785	0.513843	0.12944	6.81E-4	1.16E-4	ENSG00000110799	ENST00000261405	T	0.36699	1.24	5.33	-2.61	0.06171	von Willebrand factor, type C (3);	1.093970	0.07212	N	0.859422	T	0.22003	0.0530	N	0.14661	0.345	0.26288	N	0.978165	B	0.17268	0.021	B	0.12837	0.008	T	0.27739	-1.0065	10	0.38643	T	0.18	.	11.7285	0.51722	0.0:0.3397:0.0:0.6603	rs62641242	2313	P04275	VWF_HUMAN	H	2313	ENSP00000261405:R2313H	ENSP00000261405:R2313H	R	-	2	0	VWF	5964510	0.001000	0.12720	0.067000	0.19924	0.135000	0.20990	-0.426000	0.07008	-0.496000	0.06650	0.561000	0.74099	CGC	C|0.999;T|0.001	0.001	strong		0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6094249	C	T	6094249	3	4	22	1	0	0	0	0	1	0	0	0	17243	768	27	1	1555	1	VWF	12	6094249	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	252516	6094249	127757646	6587	11695										
VWF	7450	hgsc.bcm.edu	37	chr12	6103072	6103072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacgcagaccccgttggtcCgacagaggtgggcataagag	14	11	0	3	rs2229446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6103072C>T	ENST00000261405.5	-	37	6808	c.6554G>A	c.(6553-6555)cGg>cAg	p.R2185Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2185			R -> Q (in dbSNP:rs2229446).		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCGTTGGTCCGACAGAGGTG	0.552													C|||	342	0.0682907	0.2428	0.0245	5008	,	,		17441	0.0		0.002	False		,,,				2504	0.002				p.R2185Q		Atlas-SNP	.											VWF,rectum,carcinoma,-1,1	VWF	338	1	0			c.G6554A	GRCh37	CM070322	VWF	M	rs76342212	PASS	.	C	GLN/ARG	877,3529	337.0+/-304.7	89,699,1415	71	60	63		6554	5.3	1	12	dbSNP_131	63	13,8587	8.4+/-32.0	0,13,4287	yes	missense	VWF	NM_000552.3	43	89,712,5702	TT,TC,CC		0.1512,19.9047,6.843	probably-damaging	2185/2814	6103072	890,12116	2203	4300	6503	SO:0001583	missense	7450	exon37			TTGGTCCGACAGA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6554G>A	12.37:g.6103072C>T	ENSP00000261405:p.Arg2185Gln	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	110	0.05036630036630037	102	0.2073170731707317	8	0.022099447513812154	0	0.0	0	0.0	C	22.3	4.275153	0.80580	0.199047	0.001512	ENSG00000110799	ENST00000261405	T	0.75367	-0.93	5.3	5.3	0.74995	Uncharacterised domain, cysteine-rich (2);	0.000000	0.40385	N	0.001115	T	0.00241	0.0007	L	0.43646	1.37	0.09310	P	1.0	D	0.89917	1.0	D	0.87578	0.998	T	0.01405	-1.1363	9	0.51188	T	0.08	.	17.9818	0.89144	0.0:1.0:0.0:0.0	rs2229446;rs11537643;rs52798162;rs11537643	2185	P04275	VWF_HUMAN	Q	2185	ENSP00000261405:R2185Q	ENSP00000261405:R2185Q	R	-	2	0	VWF	5973333	0.998000	0.40836	0.994000	0.49952	0.987000	0.75469	3.949000	0.56668	2.482000	0.83794	0.655000	0.94253	CGG	C|0.939;T|0.061	0.061	strong		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6103072	C	T	6103072	3	4	22	1	0	0	0	0	1	0	0	0	17243	652	23	1	1951	1	VWF	12	6103072	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8823	6103072	127748823	6588	11696										
VWF	7450	hgsc.bcm.edu	37	chr12	6103281	6103281	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgccctggccgctgcacAgtccattcctgaacaagtgt	10	14	1	1	rs11537642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6103281A>T	ENST00000261405.5	-	37	6599	c.6345T>A	c.(6343-6345)acT>acA	p.T2115T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2115	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCGCTGCACAGTCCATTCCT	0.557													A|||	277	0.0553115	0.1982	0.0202	5008	,	,		20224	0.0		0.001	False		,,,				2504	0.0				p.T2115T		Atlas-SNP	.											.	VWF	338	.	0			c.T6345A						PASS	.	A		660,3746	280.2+/-275.2	55,550,1598	94	79	84		6345	-10.3	0	12	dbSNP_120	84	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	VWF	NM_000552.3		55,554,5894	TT,TA,AA		0.0465,14.9796,5.1053		2115/2814	6103281	664,12342	2203	4300	6503	SO:0001819	synonymous_variant	7450	exon37			CTGCACAGTCCAT		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6345T>A	12.37:g.6103281A>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	88	36	0.409091	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																			A|0.955;T|0.045	0.045	strong		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6103281	A	T	6103281	2	4	22	1	0	0	0	0	0	0	0	1	17243	175	7	5		5	VWF	12	6103281	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	209	6103281	127748614	6589	11697										
VWF	7450	hgsc.bcm.edu	37	chr12	6138575	6138575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaccacggagagggctttgCccagcagcagaatgatgtac	13	10	0	4	rs141087261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6138575C>T	ENST00000261405.5	-	22	3154	c.2900G>A	c.(2899-2901)gGc>gAc	p.G967D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	967	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGGGCTTTGCCCAGCAGCAG	0.547													C|||	47	0.00938498	0.0325	0.0058	5008	,	,		20111	0.0		0.0	False		,,,				2504	0.0				p.G967D		Atlas-SNP	.											.	VWF	338	.	0			c.G2900A						PASS	.	C	ASP/GLY	109,4297	84.8+/-123.5	2,105,2096	140	125	130		2900	3.7	0.9	12	dbSNP_134	130	0,8600		0,0,4300	yes	missense	VWF	NM_000552.3	94	2,105,6396	TT,TC,CC		0.0,2.4739,0.8381	benign	967/2814	6138575	109,12897	2203	4300	6503	SO:0001583	missense	7450	exon22			GCTTTGCCCAGCA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2900G>A	12.37:g.6138575C>T	ENSP00000261405:p.Gly967Asp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	131	74	0.564885	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	C	18.66	3.671977	0.67928	0.024739	0.0	ENSG00000110799	ENST00000261405	T	0.61040	0.14	4.58	3.69	0.42338	von Willebrand factor, type D domain (3);	0.382429	0.19030	N	0.124571	T	0.38081	0.1027	L	0.36672	1.1	0.80722	D	1	D	0.52996	0.957	P	0.61800	0.894	T	0.50759	-0.8790	10	0.42905	T	0.14	.	11.8305	0.52293	0.0:0.9149:0.0:0.0851	.	967	P04275	VWF_HUMAN	D	967	ENSP00000261405:G967D	ENSP00000261405:G967D	G	-	2	0	VWF	6008836	1.000000	0.71417	0.913000	0.36048	0.642000	0.38348	5.586000	0.67503	1.152000	0.42452	0.484000	0.47621	GGC	C|0.992;T|0.008	0.008	strong		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6138575	C	T	6138575	3	4	22	1	0	0	0	0	1	0	0	0	17243	739	26	2	5665	2	VWF	12	6138575	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35294	6138575	127713320	6590	11698										
VWF	7450	hgsc.bcm.edu	37	chr12	6174423	6174423	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttgaagtgtgattgaccTgtgacaaggcactcccctgg	11	11	1	4	rs1800375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6174423T>A	ENST00000261405.5	-	11	1427	c.1173A>T	c.(1171-1173)acA>acT	p.T391T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	391	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T391T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTGATTGACCTGTGACAAGGC	0.552													T|||	1357	0.270966	0.5076	0.1297	5008	,	,		21004	0.247		0.1213	False		,,,				2504	0.2301				p.T391T		Atlas-SNP	.											VWF,NS,carcinoma,0,1	VWF	338	1	1	Substitution - coding silent(1)	stomach(1)	c.A1173T						PASS	.	T		2055,2351	564.0+/-381.3	506,1043,654	83	78	80		1173	-5.9	0.6	12	dbSNP_89	80	1092,7508	227.8+/-263.0	76,940,3284	no	coding-synonymous	VWF	NM_000552.3		582,1983,3938	AA,AT,TT		12.6977,46.6409,24.1965		391/2814	6174423	3147,9859	2203	4300	6503	SO:0001819	synonymous_variant	7450	exon11			TTGACCTGTGACA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1173A>T	12.37:g.6174423T>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																			T|0.770;A|0.230	0.230	strong		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6174423	T	A	6174423	2	1	22	1	0	0	0	0	0	0	0	1	17243	1567	55	5		5	VWF	12	6174423	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35848	6174423	127677472	6591	11699										
VWF	7450	hgsc.bcm.edu	37	chr12	6182828	6182828	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcgctcctgacacatttcAttgatgtgcaggctctggca	9	12	2	2	rs1800387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6182828A>T	ENST00000261405.5	-	8	1208	c.954T>A	c.(952-954)aaT>aaA	p.N318K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	318	TIL 1.		N -> K (in dbSNP:rs1800387).		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACACATTTCATTGATGTGCA	0.537													A|||	779	0.155551	0.4705	0.0735	5008	,	,		20376	0.001		0.0328	False		,,,				2504	0.0736				p.N318K		Atlas-SNP	.											.	VWF	338	.	0			c.T954A						PASS	.	A	LYS/ASN	1814,2592	532.8+/-373.5	380,1054,769	121	101	108		954	-3.5	0	12	dbSNP_89	108	222,8378	92.8+/-154.8	1,220,4079	yes	missense	VWF	NM_000552.3	94	381,1274,4848	TT,TA,AA		2.5814,41.1711,15.6543	benign	318/2814	6182828	2036,10970	2203	4300	6503	SO:0001583	missense	7450	exon8			CATTTCATTGATG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.954T>A	12.37:g.6182828A>T	ENSP00000261405:p.Asn318Lys	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	88	28	0.318182	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	283	0.1295787545787546	235	0.47764227642276424	30	0.08287292817679558	0	0.0	18	0.023746701846965697	A	13.32	2.203429	0.38905	0.411711	0.025814	ENSG00000110799	ENST00000261405	D	0.90069	-2.61	5.07	-3.54	0.04653	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.028730	0.07777	N	0.952644	T	0.00012	0.0000	L	0.42632	1.34	0.09310	P	0.99999999821589	B;P	0.42161	0.005;0.772	B;B	0.40444	0.02;0.329	T	0.09357	-1.0678	9	0.32370	T	0.25	.	1.2239	0.01929	0.3764:0.2668:0.2306:0.1262	rs1800387;rs56444638;rs1800387	318;318	B4DNX0;P04275	.;VWF_HUMAN	K	318	ENSP00000261405:N318K	ENSP00000261405:N318K	N	-	3	2	VWF	6053089	0.916000	0.31088	0.012000	0.15200	0.881000	0.50899	0.118000	0.15605	-0.694000	0.05113	0.402000	0.26972	AAT	A|0.839;T|0.161	0.161	strong		0.537	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6182828	A	T	6182828	3	4	22	1	0	0	0	0	1	0	0	0	17243	214	8	5	7667	5	VWF	12	6182828	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8405	6182828	127669067	6592	11700										
NCAPD2	9918	hgsc.bcm.edu	37	chr12	6631169	6631169	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attacagaggccattggcatCatcagcaagatgatgtatga	10	7	2	4	rs917634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6631169C>A	ENST00000315579.5	+	15	2719	c.1920C>A	c.(1918-1920)atC>atA	p.I640I	NCAPD2_ENST00000545962.1_Silent_p.I595I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	640					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCATTGGCATCATCAGCAAGA	0.423													C|||	2662	0.53155	0.5961	0.6225	5008	,	,		17799	0.5704		0.4742	False		,,,				2504	0.3988				p.I640I		Atlas-SNP	.											.	NCAPD2	99	.	0			c.C1920A						PASS	.	C		2566,1840	635.7+/-396.4	758,1050,395	82	83	83		1920	5	1	12	dbSNP_86	83	3915,4685	547.1+/-385.1	903,2109,1288	no	coding-synonymous	NCAPD2	NM_014865.3		1661,3159,1683	AA,AC,CC		45.5233,41.7612,49.8308		640/1402	6631169	6481,6525	2203	4300	6503	SO:0001819	synonymous_variant	9918	exon15			TGGCATCATCAGC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1920C>A	12.37:g.6631169C>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_014865	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																			C|0.475;A|0.524	0.524	strong		0.423	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6631169	C	A	6631169	2	1	22	1	0	0	0	0	0	0	0	1	10205	816	29	4		4	NCAPD2	12	6631169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448341	6631169	127220726	6593	11701										
NCAPD2	9918	hgsc.bcm.edu	37	chr12	6639981	6639981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagccaagaaaccatccaCtggtacgtaaggcagcctgt	9	12	1	1	rs2240871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6639981C>G	ENST00000315579.5	+	30	4761	c.3962C>G	c.(3961-3963)aCt>aGt	p.T1321S	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.T1276S	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1321			T -> S (in dbSNP:rs2240871). {ECO:0000269|PubMed:15489334}.		mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAACCATCCACTGGTACGTAA	0.522													C|||	920	0.183706	0.0658	0.1988	5008	,	,		18395	0.3671		0.1829	False		,,,				2504	0.1442				p.T1321S		Atlas-SNP	.											.	NCAPD2	99	.	0			c.C3962G						PASS	.	C	SER/THR	330,4076	173.4+/-203.2	13,304,1886	62	64	63		3962	2.4	0	12	dbSNP_98	63	1523,7077	283.6+/-296.2	135,1253,2912	yes	missense	NCAPD2	NM_014865.3	58	148,1557,4798	GG,GC,CC		17.7093,7.4898,14.2473	benign	1321/1402	6639981	1853,11153	2203	4300	6503	SO:0001583	missense	9918	exon30			CATCCACTGGTAC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3962C>G	12.37:g.6639981C>G	ENSP00000325017:p.Thr1321Ser	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	77	28	0.363636	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	459	0.21016483516483517	33	0.06707317073170732	73	0.20165745856353592	214	0.3741258741258741	139	0.18337730870712401	C	1.095	-0.662912	0.03454	0.074898	0.177093	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.16897	2.58;2.31	5.42	2.4	0.29515	.	1.768640	0.02053	N	0.050195	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.43212	-0.9405	9	0.15066	T	0.55	1.0634	8.1283	0.31012	0.0:0.6505:0.1269:0.2226	rs2240871;rs11545059;rs17852509;rs2240871	1276;1321	F5GZJ1;Q15021	.;CND1_HUMAN	S	1321;1276	ENSP00000325017:T1321S;ENSP00000444417:T1276S	ENSP00000325017:T1321S	T	+	2	0	NCAPD2	6510242	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.129000	0.15830	0.664000	0.31047	0.561000	0.74099	ACT	C|0.834;G|0.166	0.166	strong		0.522	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		G	6639981	C	G	6639981	3	3	22	1	0	0	0	0	1	0	0	0	10205	565	20	4	4076	4	NCAPD2	12	6639981	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8812	6639981	127211914	6594	11702										
GAPDH	2597	hgsc.bcm.edu	37	chr12	6646320	6646320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctgccccctctgctgaTgcccccatgttcgtcatggg	9	16	3	1	rs1065691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6646320T>C	ENST00000229239.5	+	6	1047	c.381T>C	c.(379-381)gaT>gaC	p.D127D	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Silent_p.D85D|GAPDH_ENST00000396859.1_Silent_p.D127D|GAPDH_ENST00000396856.1_Silent_p.D52D|GAPDH_ENST00000396861.1_Silent_p.D127D	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	127	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CCTCTGCTGATGCCCCCATGT	0.567													C|||	2028	0.404952	0.5651	0.3112	5008	,	,		19477	0.5188		0.2217	False		,,,				2504	0.3262				p.D127D		Atlas-SNP	.											.	GAPDH	20	.	0			c.T381C						PASS	.	C		2078,2328	603.9+/-390.2	498,1082,623	46	48	47		381	1.3	1	12	dbSNP_86	47	1755,6845	735.2+/-406.9	182,1391,2727	no	coding-synonymous	GAPDH	NM_002046.3		680,2473,3350	CC,CT,TT		20.407,47.163,29.471		127/336	6646320	3833,9173	2203	4300	6503	SO:0001819	synonymous_variant	2597	exon6			TGCTGATGCCCCC	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.381T>C	12.37:g.6646320T>C		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_002046	E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	CCDS8549.1																																																																																			T|0.687;C|0.313	0.313	strong		0.567	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		C	6646320	T	C	6646320	2	2	22	1	0	0	0	0	0	0	0	1	6236	1461	51	2		2	GAPDH	12	6646320	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6339	6646320	127205575	6595	11703										
GAPDH	2597	hgsc.bcm.edu	37	chr12	6647109	6647109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacccactcctccaccttTgacgctggggctggcattgc	10	16	0	1	rs1803621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:6647109T>C	ENST00000229239.5	+	8	1551	c.885T>C	c.(883-885)ttT>ttC	p.F295F	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Silent_p.F253F|GAPDH_ENST00000396859.1_Silent_p.F295F|GAPDH_ENST00000396856.1_Silent_p.F220F|GAPDH_ENST00000396861.1_Silent_p.F295F	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	295					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CCTCCACCTTTGACGCTGGGG	0.587											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2077	0.414736	0.5666	0.3228	5008	,	,		20164	0.5486		0.2217	False		,,,				2504	0.3354				p.F295F		Atlas-SNP	.											.	GAPDH	20	.	0			c.T885C						PASS	.	C		2048,2350		493,1062,644	45	51	49		885	-5.3	0.9	12	dbSNP_89	49	1757,6837		184,1389,2724	no	coding-synonymous	GAPDH	NM_002046.3		677,2451,3368	CC,CT,TT		20.4445,46.5666,29.2873		295/336	6647109	3805,9187	2199	4297	6496	SO:0001819	synonymous_variant	2597	exon8			CACCTTTGACGCT	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.885T>C	12.37:g.6647109T>C		Somatic	47	0	0	635	WXS	Illumina HiSeq	Phase_I	55	19	0.345455	NM_002046	E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	CCDS8549.1																																																																																			T|0.686;C|0.314	0.314	strong		0.587	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		C	6647109	T	C	6647109	2	2	22	1	0	0	0	0	0	0	0	1	6236	1809	63	2		2	GAPDH	12	6647109	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	789	6647109	127204786	6596	11704										
LRRC23	10233	hgsc.bcm.edu	37	chr12	7015075	7015075	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgctctgtaagacaggcAatgggctggctcatgcttat	11	10	3	1	rs2071072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7015075A>C	ENST00000007969.8	+	3	413	c.193A>C	c.(193-195)Aat>Cat	p.N65H	LRRC23_ENST00000436789.1_Missense_Mutation_p.N65H|LRRC23_ENST00000429740.1_Missense_Mutation_p.N65H|LRRC23_ENST00000323702.5_Missense_Mutation_p.N65H|LRRC23_ENST00000433346.1_Missense_Mutation_p.N65H|LRRC23_ENST00000443597.2_Missense_Mutation_p.N65H|LRRC23_ENST00000449039.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	65			N -> H (in dbSNP:rs2071072).							NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TAAGACAGGCAATGGGCTGGC	0.552													A|||	239	0.0477236	0.0	0.0	5008	,	,		-128	0.2183		0.0	False		,,,				2504	0.0194				p.N65H		Atlas-SNP	.											.	LRRC23	46	.	0			c.A193C						PASS	.	A	HIS/ASN,HIS/ASN,HIS/ASN	4,4402	8.1+/-20.4	0,4,2199	111	100	104		193,193,193	4.3	0.1	12	dbSNP_96	104	0,8600		0,0,4300	yes	missense,missense,missense	LRRC23	NM_001135217.1,NM_006992.3,NM_201650.2	68,68,68	0,4,6499	CC,CA,AA		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	65/344,65/313,65/344	7015075	4,13002	2203	4300	6503	SO:0001583	missense	10233	exon3			ACAGGCAATGGGC	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.193A>C	12.37:g.7015075A>C	ENSP00000007969:p.Asn65His	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	105	51	0.485714	NM_001135217	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	113	0.051739926739926737	0	0.0	0	0.0	113	0.19755244755244755	0	0.0	A	19.41	3.821461	0.71028	9.08E-4	0.0	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.68331	1.77;-0.02;-0.32;-0.02;0.64;1.79;1.34	5.51	4.33	0.51752	.	.	.	.	.	T	0.00241	0.0007	M	0.64404	1.975	0.41971	P	0.009241999999999972	D;D;D;D	0.76494	0.987;0.999;0.992;0.991	D;P;P;P	0.65573	0.936;0.907;0.778;0.847	T	0.07501	-1.0769	8	0.45353	T	0.12	-0.5611	11.3578	0.49625	0.8638:0.0:0.0:0.1362	rs2071072;rs17790798;rs52809345;rs2071072	65;65;65;65	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	H	65	ENSP00000402554:N65H;ENSP00000007969:N65H;ENSP00000317464:N65H;ENSP00000390932:N65H;ENSP00000408066:N65H;ENSP00000396049:N65H;ENSP00000397192:N65H	ENSP00000007969:N65H	N	+	1	0	LRRC23	6885336	0.998000	0.40836	0.059000	0.19551	0.909000	0.53808	5.004000	0.63966	0.869000	0.35703	0.459000	0.35465	AAT	A|0.951;C|0.049	0.049	strong		0.552	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		C	7015075	A	C	7015075	3	2	22	1	0	0	0	0	1	0	0	0	8978	130	5	5	199	5	LRRC23	12	7015075	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	367966	7015075	126836820	6597	11705										
LRRC23	10233	hgsc.bcm.edu	37	chr12	7015707	7015707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcaaggctgatggcaatcGgctgcgaagtgcccagatga	14	10	1	3	rs2071073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7015707G>T	ENST00000007969.8	+	4	591	c.371G>T	c.(370-372)cGg>cTg	p.R124L	LRRC23_ENST00000429740.1_Missense_Mutation_p.R124L|LRRC23_ENST00000323702.5_Missense_Mutation_p.R124L|LRRC23_ENST00000436789.1_Missense_Mutation_p.R124L|LRRC23_ENST00000443597.2_Missense_Mutation_p.R124L|LRRC23_ENST00000433346.1_Missense_Mutation_p.R124L	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	124			R -> L (in dbSNP:rs2071073). {ECO:0000269|PubMed:15489334}.					p.R124L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GATGGCAATCGGCTGCGAAGT	0.498													G|||	540	0.107827	0.1498	0.0865	5008	,	,		-128	0.2589		0.001	False		,,,				2504	0.0204				p.R124L		Atlas-SNP	.											LRRC23,NS,carcinoma,0,2	LRRC23	46	2	2	Substitution - Missense(2)	stomach(2)	c.G371T						PASS	.	G	LEU/ARG,LEU/ARG,LEU/ARG	600,3806	262.5+/-264.9	42,516,1645	316	308	310		371,371,371	-0.1	0.4	12	dbSNP_96	310	36,8564	24.0+/-70.4	1,34,4265	yes	missense,missense,missense	LRRC23	NM_001135217.1,NM_006992.3,NM_201650.2	102,102,102	43,550,5910	TT,TG,GG		0.4186,13.6178,4.8901	benign,benign,benign	124/344,124/313,124/344	7015707	636,12370	2203	4300	6503	SO:0001583	missense	10233	exon4			GCAATCGGCTGCG	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.371G>T	12.37:g.7015707G>T	ENSP00000007969:p.Arg124Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	128	69	0.539062	NM_001135217	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	242	0.1108058608058608	80	0.16260162601626016	24	0.06629834254143646	138	0.24125874125874125	0	0.0	G	10.23	1.291792	0.23564	0.136178	0.004186	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789;ENST00000429740	T;T;T;T;T;T	0.31510	1.98;1.83;2.22;1.83;2.21;1.49	5.93	-0.0597	0.13792	.	.	.	.	.	T	0.00012	0.0000	N	0.16478	0.41	0.42570	P	0.006821999999999995	B;B;B;B;B;B	0.18610	0.029;0.001;0.001;0.014;0.006;0.018	B;B;B;B;B;B	0.22386	0.039;0.004;0.001;0.004;0.003;0.003	T	0.39820	-0.9595	8	0.30854	T	0.27	-2.06	7.7197	0.28725	0.6306:0.0:0.2452:0.1243	rs2071073;rs17198095;rs17852710;rs2071073	124;124;124;124;124;124	E9PDZ4;C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;.;LRC23_HUMAN;.	L	124	ENSP00000402554:R124L;ENSP00000007969:R124L;ENSP00000317464:R124L;ENSP00000390932:R124L;ENSP00000396049:R124L;ENSP00000397192:R124L	ENSP00000007969:R124L	R	+	2	0	LRRC23	6885968	0.853000	0.29707	0.362000	0.25862	0.922000	0.55478	-0.019000	0.12546	-0.315000	0.08703	0.561000	0.74099	CGG	G|0.920;N|0.000	.	strong		0.498	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		T	7015707	G	T	7015707	3	4	22	1	0	0	0	0	1	0	0	0	8978	1116	39	4	381	4	LRRC23	12	7015707	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	632	7015707	126836188	6598	11706										
ATN1	1822	hgsc.bcm.edu	37	chr12	7045939	7045939	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagcagcagcagcagcaTcacggaaactctgggccccc	11	16	2	0	rs146578563		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7045939T>G	ENST00000356654.4	+	5	1746	c.1509T>G	c.(1507-1509)caT>caG	p.H503Q	ATN1_ENST00000396684.2_Missense_Mutation_p.H503Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	503					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcaTCACGGAAACT	0.637																																					p.H503Q		Atlas-SNP	.											ATN1,colon,carcinoma,0,1	ATN1	95	1	0			c.T1509G						PASS	.						55	62	60					12																	7045939		2203	4300	6503	SO:0001583	missense	1822	exon5			GCAGCATCACGGA	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1509T>G	12.37:g.7045939T>G	ENSP00000349076:p.His503Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	91	8	0.0879121	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.812787	0.00600	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.37235	1.21;1.21;1.21	3.27	-0.797	0.10909	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	0.999995	B	0.23058	0.079	B	0.26770	0.073	T	0.27806	-1.0063	9	0.26408	T	0.33	.	4.3098	0.10965	0.0:0.4586:0.2199:0.3215	.	503	P54259	ATN1_HUMAN	Q	503;503;503;88	ENSP00000349076:H503Q;ENSP00000379915:H503Q;ENSP00000441744:H503Q	ENSP00000229279:H88Q	H	+	3	2	ATN1	6916200	0.000000	0.05858	0.721000	0.30653	0.342000	0.28953	-1.515000	0.02252	0.069000	0.16605	0.473000	0.43528	CAT	C|0.001;G|0.000;T|0.999	0.000	strong		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		G	7045939	T	G	7045939	3	3	22	1	0	0	0	0	1	0	0	0	1111	1432	50	5	1523	5	ATN1	12	7045939	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30232	7045939	126805956	6599	11707										
LPCAT3	10162	hgsc.bcm.edu	37	chr12	7090193	7090193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatctttcctggtatgtcaAtcagctctccctgcaccagc	7	14	4	0	rs1984564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7090193A>G	ENST00000261407.4	-	6	735	c.650T>C	c.(649-651)aTt>aCt	p.I217T	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	217			I -> T (in dbSNP:rs1984564).		glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGGTATGTCAATCAGCTCTCC	0.478													G|||	1238	0.247204	0.6437	0.1455	5008	,	,		-128	0.0615		0.0885	False		,,,				2504	0.138				p.I217T		Atlas-SNP	.											.	LPCAT3	33	.	0			c.T650C						PASS	.	G	THR/ILE	2409,1997	560.2+/-380.4	668,1073,462	158	154	156		650	5.9	1	12	dbSNP_92	156	726,7874	786.7+/-407.6	32,662,3606	yes	missense	LPCAT3	NM_005768.5	89	700,1735,4068	GG,GA,AA		8.4419,45.3246,24.1043	benign	217/488	7090193	3135,9871	2203	4300	6503	SO:0001583	missense	10162	exon6			ATGTCAATCAGCT	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.650T>C	12.37:g.7090193A>G	ENSP00000261407:p.Ile217Thr	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	141	74	0.524823	NM_005768	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	459	0.21016483516483517	309	0.6280487804878049	57	0.1574585635359116	27	0.0472027972027972	66	0.0870712401055409	G	6.439	0.449195	0.12223	0.546754	0.084419	ENSG00000111684	ENST00000261407	T	0.72615	-0.67	5.88	5.88	0.94601	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.02315	-0.6	0.45899	P	0.0012550000000000061	B	0.02656	0.0	B	0.01281	0.0	T	0.39396	-0.9616	9	0.13470	T	0.59	-16.3892	15.2962	0.73910	0.0668:0.0:0.9332:0.0	rs1984564;rs52822576;rs57995561;rs1984564	217	Q6P1A2	MBOA5_HUMAN	T	217	ENSP00000261407:I217T	ENSP00000261407:I217T	I	-	2	0	LPCAT3	6960454	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.949000	0.63596	1.508000	0.48769	-0.119000	0.15052	ATT	A|0.759;G|0.241	0.241	strong		0.478	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		G	7090193	A	G	7090193	3	3	22	1	0	0	0	0	1	0	0	0	8912	101	4	2	841	2	LPCAT3	12	7090193	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44254	7090193	126761702	6600	11708										
LPCAT3	10162	hgsc.bcm.edu	37	chr12	7091918	7091918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaactgaagcacaatacaCagcagggagtggtagagctg	14	7	0	2	rs3764031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7091918C>T	ENST00000261407.4	-	3	370	c.285G>A	c.(283-285)ctG>ctA	p.L95L	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	95					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GCACAATACACAGCAGGGAGT	0.483													T|||	921	0.183906	0.4788	0.0994	5008	,	,		-128	0.0506		0.0845	False		,,,				2504	0.0849				p.L95L		Atlas-SNP	.											.	LPCAT3	33	.	0			c.G285A						PASS	.	T		1791,2615	641.9+/-397.6	379,1033,791	153	133	140		285	-7.4	0.1	12	dbSNP_107	140	698,7902	788.0+/-407.6	32,634,3634	no	coding-synonymous	LPCAT3	NM_005768.5		411,1667,4425	TT,TC,CC		8.1163,40.6491,19.1373		95/488	7091918	2489,10517	2203	4300	6503	SO:0001819	synonymous_variant	10162	exon3			AATACACAGCAGG	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.285G>A	12.37:g.7091918C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	149	69	0.463087	NM_005768	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	CCDS8572.1																																																																																			C|0.809;T|0.191	0.191	strong		0.483	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		T	7091918	C	T	7091918	2	4	22	1	0	0	0	0	0	0	0	1	8912	465	17	2		2	LPCAT3	12	7091918	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1725	7091918	126759977	6601	11709										
LPCAT3	10162	hgsc.bcm.edu	37	chr12	7125672	7125672	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcctggaaacccgactgCagaacccccgccagcgccac	9	19	0	1	rs61733160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7125672C>G	ENST00000261407.4	-	1	142	c.57G>C	c.(55-57)ctG>ctC	p.L19L	C1S_ENST00000406697.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	19					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AACCCGACTGCAGAACCCCCG	0.667													C|||	254	0.0507188	0.1142	0.0216	5008	,	,		-128	0.0188		0.0258	False		,,,				2504	0.044				p.L19L		Atlas-SNP	.											.	LPCAT3	33	.	0			c.G57C						PASS	.	C		419,3987	176.2+/-205.4	18,383,1802	43	43	43		57	3.2	0	12	dbSNP_129	43	161,8439	66.7+/-129.0	0,161,4139	no	coding-synonymous	LPCAT3	NM_005768.5		18,544,5941	GG,GC,CC		1.8721,9.5098,4.4595		19/488	7125672	580,12426	2203	4300	6503	SO:0001819	synonymous_variant	10162	exon1			CGACTGCAGAACC	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.57G>C	12.37:g.7125672C>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	108	50	0.462963	NM_005768	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	CCDS8572.1																																																																																			C|0.950;G|0.050	0.050	strong		0.667	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		G	7125672	C	G	7125672	2	3	22	1	0	0	0	0	0	0	0	1	8912	697	25	4		4	LPCAT3	12	7125672	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33754	7125672	126726223	6602	11710										
ACSM4	341392	hgsc.bcm.edu	37	chr12	7477100	7477100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttcctcttcaggtaccGtattgggccatttgaagtgg	10	9	3	1	rs61584783		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7477100G>A	ENST00000399422.4	+	11	1490	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	481			R -> H (in dbSNP:rs61584783).		acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TTCAGGTACCGTATTGGGCCA	0.463													G|||	155	0.0309505	0.1127	0.0086	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.R481H		Atlas-SNP	.											.	ACSM4	98	.	0			c.G1442A						PASS	.	G	HIS/ARG	395,3577		24,347,1615	139	128	132		1442	1.8	1	12	dbSNP_129	132	1,8369		0,1,4184	yes	missense	ACSM4	NM_001080454.1	29	24,348,5799	AA,AG,GG		0.0119,9.9446,3.2086	probably-damaging	481/581	7477100	396,11946	1986	4185	6171	SO:0001583	missense	341392	exon11			GGTACCGTATTGG		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1442G>A	12.37:g.7477100G>A	ENSP00000382349:p.Arg481His	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	157	76	0.484076	NM_001080454	A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	CCDS44825.1	57	0.0260989010989011	54	0.10975609756097561	3	0.008287292817679558	0	0.0	0	0.0	G	17.40	3.379356	0.61845	0.099446	1.19E-4	ENSG00000215009	ENST00000399422	T	0.15256	2.44	2.74	1.84	0.25277	AMP-dependent synthetase/ligase (1);	0.000000	0.38959	U	0.001517	T	0.01061	0.0035	M	0.92122	3.275	0.40110	D	0.97647	D	0.89917	1.0	D	0.79108	0.992	T	0.00431	-1.1743	10	0.87932	D	0	-4.6674	7.7673	0.28986	0.1334:0.0:0.8666:0.0	rs61584783	481	P0C7M7	ACSM4_HUMAN	H	481	ENSP00000382349:R481H	ENSP00000382349:R481H	R	+	2	0	ACSM4	7368367	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	6.064000	0.71169	0.721000	0.32231	0.557000	0.71058	CGT	G|0.979;A|0.021	0.021	strong		0.463	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7477100	G	A	7477100	3	1	22	1	0	0	0	0	1	0	0	0	186	1145	40	1	1484	1	ACSM4	12	7477100	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	351428	7477100	126374795	6603	11711										
CD163L1	283316	hgsc.bcm.edu	37	chr12	7528471	7528471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagatatggcatctccacaGtttaattctctgcacagcac	7	11	2	1	rs7306824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7528471G>A	ENST00000313599.3	-	10	2568	c.2511C>T	c.(2509-2511)aaC>aaT	p.N837N	CD163L1_ENST00000416109.2_Silent_p.N847N|CD163L1_ENST00000396630.1_Silent_p.N837N|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	837	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATCTCCACAGTTTAATTCTC	0.468													A|||	2323	0.463858	0.6331	0.4841	5008	,	,		-128	0.4752		0.2714	False		,,,				2504	0.407				p.N837N		Atlas-SNP	.											CD163L1,colon,carcinoma,0,2	CD163L1	238	2	0			c.C2511T						PASS	.	A		2474,1932	549.1+/-377.7	698,1078,427	99	99	99		2511	-5.5	0	12	dbSNP_116	99	2144,6456	714.9+/-406.0	281,1582,2437	no	coding-synonymous	CD163L1	NM_174941.4		979,2660,2864	AA,AG,GG		24.9302,43.8493,35.5067		837/1454	7528471	4618,8388	2203	4300	6503	SO:0001819	synonymous_variant	283316	exon10			TCCACAGTTTAAT	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2511C>T	12.37:g.7528471G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	92	53	0.576087	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																			G|0.601;A|0.399	0.399	strong		0.468	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7528471	G	A	7528471	2	1	22	1	0	0	0	0	0	0	0	1	2968	1020	36	2		2	CD163L1	12	7528471	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51371	7528471	126323424	6604	11712										
CD163	9332	hgsc.bcm.edu	37	chr12	7636027	7636027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccccagcgtctggcaggAcaatcccacaaggaagactc	11	14	1	1	rs78817356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7636027A>G	ENST00000359156.4	-	12	3226	c.3024T>C	c.(3022-3024)tgT>tgC	p.C1008C	CD163_ENST00000396620.3_Silent_p.C1041C|CD163_ENST00000541972.1_Silent_p.C996C|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Silent_p.C1008C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1008	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTCTGGCAGGACAATCCCACA	0.507													A|||	144	0.028754	0.1014	0.013	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				p.C1008C		Atlas-SNP	.											.	CD163	221	.	0			c.T3024C						PASS	.	A	,	305,4101	164.4+/-196.0	6,293,1904	131	112	118		3024,3024	0.5	1	12	dbSNP_131	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CD163	NM_004244.5,NM_203416.3	,	6,294,6203	GG,GA,AA		0.0116,6.9224,2.3528	,	1008/1157,1008/1122	7636027	306,12700	2203	4300	6503	SO:0001819	synonymous_variant	9332	exon12			GGCAGGACAATCC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3024T>C	12.37:g.7636027A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	123	58	0.471545	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1	42	0.019230769230769232	35	0.07113821138211382	7	0.019337016574585635	0	0.0	0	0.0	A	10.17	1.275594	0.23307	0.069224	1.16E-4	ENSG00000177575	ENST00000537626	.	.	.	5.4	0.458	0.16670	.	.	.	.	.	T	0.08313	0.0207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04103	-1.0977	4	.	.	.	.	8.3663	0.32389	0.6729:0.0:0.3271:0.0	.	.	.	.	A	21	.	.	V	-	2	0	CD163	7527294	0.000000	0.05858	0.998000	0.56505	0.984000	0.73092	-0.124000	0.10595	0.121000	0.18284	-0.388000	0.06559	GTC	A|0.978;G|0.022	0.022	strong		0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		G	7636027	A	G	7636027	2	3	22	1	0	0	0	0	0	0	0	1	2967	273	10	2		2	CD163	12	7636027	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	107556	7636027	126215868	6605	11713										
CLEC4C	170482	hgsc.bcm.edu	37	chr12	7890040	7890040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catacctgttcttccctggtGttgatcaccaccagatcagc	7	14	3	2	rs77889141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7890040G>T	ENST00000542353.1	-	5	856	c.366C>A	c.(364-366)aaC>aaA	p.N122K	CLEC4C_ENST00000540085.1_Missense_Mutation_p.N91K|CLEC4C_ENST00000354629.5_Missense_Mutation_p.N91K|CLEC4C_ENST00000360345.3_Missense_Mutation_p.N122K	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	122	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTTCCCTGGTGTTGATCACCA	0.408													G|||	88	0.0175719	0.0635	0.0043	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				p.N122K		Atlas-SNP	.											.	CLEC4C	44	.	0			c.C366A						PASS	.	G	LYS/ASN,LYS/ASN	235,4171	137.7+/-173.5	10,215,1978	129	126	127		366,273	2.6	0.2	12	dbSNP_131	127	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	94,94	10,218,6275	TT,TG,GG		0.0349,5.3336,1.8299	possibly-damaging,possibly-damaging	122/214,91/183	7890040	238,12768	2203	4300	6503	SO:0001583	missense	170482	exon5			CCTGGTGTTGATC	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.366C>A	12.37:g.7890040G>T	ENSP00000440428:p.Asn122Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_130441	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	G	10.90	1.482342	0.26598	0.053336	3.49E-4	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	2.62	2.62	0.31277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.03390	0.0098	L	0.46614	1.455	0.09310	N	1	P;P	0.51057	0.557;0.941	B;P	0.51615	0.169;0.675	T	0.04885	-1.0920	9	0.27082	T	0.32	.	8.9424	0.35738	0.0:0.0:1.0:0.0	.	91;122	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	K	122;91;91;122;44;82	ENSP00000440428:N122K;ENSP00000346648:N91K;ENSP00000445338:N91K;ENSP00000353500:N122K;ENSP00000438649:N44K;ENSP00000442457:N82K	ENSP00000346648:N91K	N	-	3	2	CLEC4C	7781307	0.976000	0.34144	0.165000	0.22776	0.054000	0.15201	1.943000	0.40253	1.784000	0.52394	0.603000	0.83216	AAC	G|0.981;T|0.019	0.019	strong		0.408	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		T	7890040	G	T	7890040	3	4	22	1	0	0	0	0	1	0	0	0	3513	1368	48	4	287	4	CLEC4C	12	7890040	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	254013	7890040	125961855	6606	11714										
CLEC4C	170482	hgsc.bcm.edu	37	chr12	7894056	7894056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgacgcaggtcaggcttgGatgatactgttgatactctc	11	9	2	3	rs73056605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7894056G>A	ENST00000542353.1	-	4	686	c.196C>T	c.(196-198)Cca>Tca	p.P66S	CLEC4C_ENST00000540085.1_Missense_Mutation_p.P35S|CLEC4C_ENST00000354629.5_Missense_Mutation_p.P35S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P66S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	66				P -> S (in Ref. 3; AAQ88590). {ECO:0000305}.	innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P66S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GTCAGGCTTGGATGATACTGT	0.428													G|||	936	0.186901	0.0446	0.3285	5008	,	,		-128	0.1994		0.2962	False		,,,				2504	0.1534				p.P66S		Atlas-SNP	.											CLEC4C,NS,carcinoma,+2,2	CLEC4C	44	2	1	Substitution - Missense(1)	stomach(1)	c.C196T						PASS	.	G	SER/PRO,SER/PRO	398,4008	197.1+/-221.3	21,356,1826	206	173	184		196,103	-1.3	0	12	dbSNP_130	184	2458,6142	406.9+/-349.0	375,1708,2217	yes	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	74,74	396,2064,4043	AA,AG,GG		28.5814,9.0331,21.9591	benign,benign	66/214,35/183	7894056	2856,10150	2203	4300	6503	SO:0001583	missense	170482	exon4			GGCTTGGATGATA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.196C>T	12.37:g.7894056G>A	ENSP00000440428:p.Pro66Ser	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	144	74	0.513889	NM_130441	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	499	0.22847985347985347	24	0.04878048780487805	123	0.3397790055248619	132	0.23076923076923078	220	0.29023746701846964	G	0.005	-2.238978	0.00274	0.090331	0.285814	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02121	4.49;4.44;4.44;4.49	1.79	-1.29	0.09288	.	.	.	.	.	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B;B	0.19583	0.0;0.037	B;B	0.14023	0.004;0.01	T	0.36432	-0.9748	8	0.05620	T	0.96	.	4.8437	0.13503	0.5335:0.0:0.4665:0.0	.	35;66	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	S	66;35;35;66	ENSP00000440428:P66S;ENSP00000346648:P35S;ENSP00000445338:P35S;ENSP00000353500:P66S	ENSP00000346648:P35S	P	-	1	0	CLEC4C	7785323	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.053000	0.11846	-0.356000	0.08187	-0.351000	0.07748	CCA	G|0.766;A|0.234	0.234	strong		0.428	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		A	7894056	G	A	7894056	3	1	22	1	0	0	0	0	1	0	0	0	3513	1174	41	2	461	2	CLEC4C	12	7894056	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4016	7894056	125957839	6607	11715										
NANOG	79923	hgsc.bcm.edu	37	chr12	7945757	7945757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagacagaaatacctcagCctccagcagatgcaagaact	8	12	1	4	rs4438116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7945757C>T	ENST00000229307.4	+	2	582	c.363C>T	c.(361-363)agC>agT	p.S121S	NANOG_ENST00000526286.1_Silent_p.S121S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	121					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AATACCTCAGCCTCCAGCAGA	0.438													C|||	804	0.160543	0.1384	0.1787	5008	,	,		-128	0.006		0.3151	False		,,,				2504	0.1779				p.S121S		Atlas-SNP	.											.	NANOG	30	.	0			c.C363T						PASS	.	C		705,3665		61,583,1541	26	24	24		363	-1.3	1	12	dbSNP_111	24	2295,6121		325,1645,2238	no	coding-synonymous	NANOG	NM_024865.2		386,2228,3779	TT,TC,CC		27.2695,16.1327,23.4632		121/306	7945757	3000,9786	2185	4208	6393	SO:0001819	synonymous_variant	79923	exon2			CCTCAGCCTCCAG	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.363C>T	12.37:g.7945757C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	175	77	0.44	NM_024865	D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																			.	.	weak		0.438	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		T	7945757	C	T	7945757	2	4	22	1	0	0	0	0	0	0	0	1	10150	738	26	2		2	NANOG	12	7945757	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51701	7945757	125906138	6608	11716										
SLC2A14	144195	hgsc.bcm.edu	37	chr12	7967071	7967071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggactttgaagaaggtaaaGgccaagaaggtaatgaggaa	15	3	0	4	rs11837392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:7967071G>A	ENST00000543909.1	-	16	2163	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	SLC2A14_ENST00000340749.5_Silent_p.A445A|SLC2A14_ENST00000396589.2_Silent_p.A468A|SLC2A14_ENST00000431042.2_Silent_p.A445A|SLC2A14_ENST00000542546.1_Silent_p.A359A|SLC2A14_ENST00000535295.1_Silent_p.A359A|SLC2A14_ENST00000542505.1_Silent_p.A109A|SLC2A14_ENST00000539924.1_Silent_p.A483A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	468					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGAAGGTAAAGGCCAAGAAGG	0.453													G|||	603	0.120407	0.1846	0.1081	5008	,	,		-128	0.1895		0.0199	False		,,,				2504	0.0746				p.A468A		Atlas-SNP	.											.	SLC2A14	78	.	0			c.C1404T						PASS	.	G		572,3834	217.1+/-235.6	49,474,1680	70	71	71		1404	1.5	0.8	12	dbSNP_120	71	167,8433	67.3+/-129.8	5,157,4138	no	coding-synonymous	SLC2A14	NM_153449.2		54,631,5818	AA,AG,GG		1.9419,12.9823,5.682		468/521	7967071	739,12267	2203	4300	6503	SO:0001819	synonymous_variant	144195	exon12			GGTAAAGGCCAAG	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1404C>T	12.37:g.7967071G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	110	47	0.427273	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																			.	.	weak		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7967071	G	A	7967071	2	1	22	1	0	0	0	0	0	0	0	1	14543	987	35	2		2	SLC2A14	12	7967071	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21314	7967071	125884824	6609	11717										
CLEC4A	50856	hgsc.bcm.edu	37	chr12	8290881	8290881	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgatgaagatccacttaTgaactgaacattctccatga	7	8	1	7	rs74810750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:8290881T>C	ENST00000229332.5	+	6	959	c.712T>C	c.(712-714)Tga>Cga	p.*238R	CLEC4A_ENST00000352620.3_Nonstop_Mutation_p.*205R|CLEC4A_ENST00000360500.3_Nonstop_Mutation_p.*199R|CLEC4A_ENST00000345999.3_Nonstop_Mutation_p.*166R	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	0					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GATCCACTTATGAACTGAACA	0.393													t|||	32	0.00638978	0.0227	0.0029	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.X238R		Atlas-SNP	.											.	CLEC4A	28	.	0			c.T712C						PASS	.	T	ARG/stop,ARG/stop,ARG/stop,ARG/stop	70,4336	64.1+/-101.4	1,68,2134	229	204	212		712,595,496,613	1.6	0.9	12	dbSNP_132	212	2,8598	2.2+/-6.3	0,2,4298	yes	stop-lost,stop-lost,stop-lost,stop-lost	CLEC4A	NM_016184.3,NM_194447.2,NM_194448.2,NM_194450.2	,,,	1,70,6432	CC,CT,TT		0.0233,1.5887,0.5536	,,,	238/238,199/199,166/166,205/205	8290881	72,12934	2203	4300	6503	SO:0001578	stop_lost	50856	exon6			CACTTATGAACTG	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.712T>C	12.37:g.8290881T>C	ENSP00000229332:p.*238Argext*6	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	162	72	0.444444	NM_016184	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	T	7.275	0.607941	0.14002	0.015887	2.33E-4	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	.	.	.	4.12	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3429	0.32254	0.0:0.0:0.3962:0.6038	.	.	.	.	R	238;166;205;199	.	.	X	+	1	0	CLEC4A	8182148	0.320000	0.24616	0.897000	0.35233	0.152000	0.21847	0.699000	0.25586	0.346000	0.23899	0.477000	0.44152	TGA	T|0.994;C|0.006	0.006	strong		0.393	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		C	8290881	T	C	8290881	4	2	22	1	0	0	0	0	0	0	0	0	3512	1477	51	2	734	2	CLEC4A	12	8290881	Nonstop_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	323810	8290881	125561014	6610	11718										
FAM90A1	55138	hgsc.bcm.edu	37	chr12	8374812	8374812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagttcggttgcggctggcGgaggttggagattctccggg	18	8	1	1	rs17855656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:8374812G>A	ENST00000538603.1	-	7	1559	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P334L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	334			P -> L (in dbSNP:rs17855656). {ECO:0000269|PubMed:15489334}.				nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGCGGCTGGCGGAGGTTGGAG	0.652													.|||	1132	0.226038	0.0983	0.1801	5008	,	,		14308	0.4087		0.1829	False		,,,				2504	0.2873				p.P334L		Atlas-SNP	.											FAM90A1,caecum,carcinoma,0,1	FAM90A1	68	1	0			c.C1001T						scavenged	.	G	LEU/PRO	380,3994		13,354,1820	17	17	17		1001	-1.4	0	12	dbSNP_123	17	1279,7285		88,1103,3091	no	missense	FAM90A1	NM_018088.3	98	101,1457,4911	AA,AG,GG		14.9346,8.6877,12.8227	benign	334/465	8374812	1659,11279	2187	4282	6469	SO:0001583	missense	55138	exon7			GCTGGCGGAGGTT	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1001C>T	12.37:g.8374812G>A	ENSP00000445418:p.Pro334Leu	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	270	181	0.67037	NM_018088	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	457	0.20924908424908426	44	0.08943089430894309	68	0.1878453038674033	217	0.3793706293706294	128	0.16886543535620052	.	0.006	-2.030824	0.00410	0.086877	0.149346	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15372	2.43;2.43	1.02	-1.44	0.08856	.	.	.	.	.	T	0.00012	0.0000	L	0.31476	0.935	0.80722	P	0.0	B	0.17667	0.023	B	0.15870	0.014	T	0.47699	-0.9097	8	0.34782	T	0.22	1.633	4.0479	0.09781	0.4969:0.0:0.5031:0.0	rs17855656	334	Q86YD7	F90A1_HUMAN	L	334	ENSP00000307798:P334L;ENSP00000445418:P334L	ENSP00000307798:P334L	P	-	2	0	FAM90A1	8266079	0.004000	0.15560	0.006000	0.13384	0.073000	0.16967	-0.651000	0.05372	-0.509000	0.06532	0.194000	0.17425	CCG	G|0.833;A|0.167	0.167	strong		0.652	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		A	8374812	G	A	8374812	3	1	22	1	0	0	0	0	1	0	0	0	5650	1116	39	1	397	1	FAM90A1	12	8374812	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83931	8374812	125477083	6611	11719										
FAM90A1	55138	hgsc.bcm.edu	37	chr12	8375112	8375112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacttctcgacagccacccGcagggctgctgtgtgtcggc	13	14	1	0	rs9668582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:8375112G>T	ENST00000538603.1	-	7	1259	c.701C>A	c.(700-702)gCg>gAg	p.A234E	FAM90A1_ENST00000307435.6_Missense_Mutation_p.A234E	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	234			A -> E (in dbSNP:rs9668582). {ECO:0000269|PubMed:15489334}.				nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACAGCCACCCGCAGGGCTGCT	0.657																																					p.A234E		Atlas-SNP	.											.	FAM90A1	68	.	0			c.C701A						PASS	.						39	63	55					12																	8375112		2070	4218	6288	SO:0001583	missense	55138	exon7			CCACCCGCAGGGC	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.701C>A	12.37:g.8375112G>T	ENSP00000445418:p.Ala234Glu	Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	302	302	1	NM_018088	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	454	0.2078754578754579	85	0.17276422764227642	67	0.1850828729281768	197	0.34440559440559443	105	0.13852242744063326	.	0.004	-2.244152	0.00271	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.06608	3.28;3.28	0.713	-1.43	0.08884	.	.	.	.	.	T	0.00012	0.0000	N	0.00729	-1.24	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34204	-0.9838	7	0.02654	T	1	7.4118	.	.	.	rs9668582;rs17857268	234	Q86YD7	F90A1_HUMAN	E	234	ENSP00000307798:A234E;ENSP00000445418:A234E	ENSP00000307798:A234E	A	-	2	0	FAM90A1	8266379	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	-0.767000	0.04720	-1.652000	0.01502	-1.448000	0.01049	GCG	G|0.793;T|0.207	0.207	strong		0.657	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		T	8375112	G	T	8375112	3	4	22	1	0	0	0	0	1	0	0	0	5650	1087	38	4	697	4	FAM90A1	12	8375112	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	300	8375112	125476783	6612	11720										
CLEC4D	338339	hgsc.bcm.edu	37	chr12	8667897	8667897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagttttcatcttacttctcAgtgtctgttttattgcaagt	6	7	4	0	rs4304840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:8667897A>G	ENST00000299665.2	+	2	287	c.94A>G	c.(94-96)Agt>Ggt	p.S32G		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	32			S -> G (in dbSNP:rs4304840). {ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTTACTTCTCAGTGTCTGTTT	0.378													A|||	1504	0.300319	0.5923	0.1844	5008	,	,		-128	0.122		0.2475	False		,,,				2504	0.226				p.S32G		Atlas-SNP	.											.	CLEC4D	46	.	0			c.A94G						PASS	.	A	GLY/SER	2420,1986	618.2+/-393.1	668,1084,451	232	197	209		94	-0.3	0.3	12	dbSNP_111	209	1987,6613	348.8+/-327.2	249,1489,2562	yes	missense	CLEC4D	NM_080387.4	56	917,2573,3013	GG,GA,AA		23.1047,45.0749,33.8844	benign	32/216	8667897	4407,8599	2203	4300	6503	SO:0001583	missense	338339	exon2			CTTCTCAGTGTCT	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.94A>G	12.37:g.8667897A>G	ENSP00000299665:p.Ser32Gly	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	240	100	0.416667	NM_080387	Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	621	0.28434065934065933	279	0.5670731707317073	66	0.18232044198895028	88	0.15384615384615385	188	0.24802110817941952	a	0.126	-1.119811	0.01785	0.549251	0.231047	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.05513	3.43;3.7	3.36	-0.299	0.12808	.	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.52501	P	4.199999999998649E-5	B	0.10296	0.003	B	0.04013	0.001	T	0.29518	-1.0009	8	0.36615	T	0.2	.	7.1227	0.25454	0.7959:0.0:0.2041:0.0	rs4304840;rs60537162;rs4304840	32	Q8WXI8	CLC4D_HUMAN	G	32	ENSP00000371496:S32G;ENSP00000299665:S32G	ENSP00000299665:S32G	S	+	1	0	CLEC4D	8559164	0.031000	0.19500	0.321000	0.25320	0.003000	0.03518	-0.178000	0.09782	-0.089000	0.12484	-1.335000	0.01260	AGT	A|0.678;G|0.322	0.322	strong		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		G	8667897	A	G	8667897	3	3	22	1	0	0	0	0	1	0	0	0	3514	188	7	3	100	3	CLEC4D	12	8667897	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	292785	8667897	125183998	6613	11721										
RIMKLB	57494	hgsc.bcm.edu	37	chr12	8926015	8926015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtgtgtggcattgatctgCtgatgaaagatgacggctcc	13	7	1	5	rs386760122|rs2302488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:8926015C>T	ENST00000538135.1	+	6	1621	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	RIMKLB_ENST00000535829.1_Silent_p.L266L|RIMKLB_ENST00000357529.3_Silent_p.L266L|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	266	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATTGATCTGCTGATGAAAGA	0.473													T|||	384	0.0766773	0.2602	0.0259	5008	,	,		-128	0.0159		0.003	False		,,,				2504	0.0031				p.L266L		Atlas-SNP	.											.	RIMKLB	47	.	0			c.C796T						PASS	.	T		905,3245		101,703,1271	189	193	191		796	0.6	0.9	12	dbSNP_100	191	24,8424		0,24,4200	yes	coding-synonymous	RIMKLB	NM_020734.2		101,727,5471	TT,TC,CC		0.2841,21.8072,7.3742		266/387	8926015	929,11669	2075	4224	6299	SO:0001819	synonymous_variant	57494	exon7			GATCTGCTGATGA	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.796C>T	12.37:g.8926015C>T		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	267	116	0.434457	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	CCDS41748.1																																																																																			C|0.911;T|0.089	0.089	strong		0.473	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8926015	C	T	8926015	2	4	22	1	0	0	0	0	0	0	0	1	13366	796	28	2		2	RIMKLB	12	8926015	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	258118	8926015	124925880	6614	11722										
PHC1	1911	hgsc.bcm.edu	37	chr12	9070366	9070366	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatagctcaaatgtcactTtatgaacgacaagcagtgca	8	9	2	2	rs4883198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9070366T>A	ENST00000543824.1	+	3	425	c.93T>A	c.(91-93)ctT>ctA	p.L31L	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.L31L|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Silent_p.L31L			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	31					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AAATGTCACTTTATGAACGAC	0.517													A|||	3444	0.6877	0.5469	0.5908	5008	,	,		-128	0.749		0.7167	False		,,,				2504	0.8538				p.L31L		Atlas-SNP	.											.	PHC1	67	.	0			c.T93A						PASS	.	A		2632,1774	521.7+/-370.6	772,1088,343	40	37	38		93	2	1	12	dbSNP_111	38	6238,2362	391.8+/-343.8	2240,1758,302	no	coding-synonymous	PHC1	NM_004426.2		3012,2846,645	AA,AT,TT		27.4651,40.2633,31.8007		31/1005	9070366	8870,4136	2203	4300	6503	SO:0001819	synonymous_variant	1911	exon2			GTCACTTTATGAA	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.93T>A	12.37:g.9070366T>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	280	145	0.517857	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	CCDS8597.1																																																																																			T|0.310;A|0.690	0.690	strong		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		A	9070366	T	A	9070366	2	1	22	1	0	0	0	0	0	0	0	1	11816	1828	64	5		5	PHC1	12	9070366	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	144351	9070366	124781529	6615	11723										
PHC1	1911	hgsc.bcm.edu	37	chr12	9074259	9074259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagagtgtgagctctccCagtgctaccaccttgaccca	8	16	1	3	rs1805741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9074259C>T	ENST00000543824.1	+	6	701	c.369C>T	c.(367-369)ccC>ccT	p.P123P	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.P123P|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Silent_p.P86P			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	123					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGAGCTCTCCCAGTGCTACCA	0.562													C|||	3172	0.633387	0.3782	0.5764	5008	,	,		-128	0.7202		0.7078	False		,,,				2504	0.8528				p.P123P		Atlas-SNP	.											.	PHC1	67	.	0			c.C369T						PASS	.						93	81	85					12																	9074259		2203	4297	6500	SO:0001819	synonymous_variant	1911	exon5			CTCTCCCAGTGCT	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.369C>T	12.37:g.9074259C>T		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	303	128	0.422442	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	CCDS8597.1																																																																																			.	.	weak		0.562	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		T	9074259	C	T	9074259	2	4	22	1	0	0	0	0	0	0	0	1	11816	581	21	2		2	PHC1	12	9074259	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3893	9074259	124777636	6616	11724										
PHC1	1911	hgsc.bcm.edu	37	chr12	9086898	9086898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctaatgtgaatgctaatActccaagcagtgaactagta	9	7	0	2	rs1049925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9086898A>G	ENST00000543824.1	+	11	2409	c.2077A>G	c.(2077-2079)Act>Gct	p.T693A	PHC1_ENST00000544916.1_Missense_Mutation_p.T693A|PHC1_ENST00000536844.1_Missense_Mutation_p.T299A|PHC1_ENST00000433083.2_Missense_Mutation_p.T648A			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	693			T -> A (in dbSNP:rs1049925). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAATGCTAATACTCCAAGCAG	0.448													A|||	1770	0.353435	0.1551	0.3818	5008	,	,		-128	0.4107		0.4274	False		,,,				2504	0.4663				p.T693A		Atlas-SNP	.											.	PHC1	67	.	0			c.A2077G						PASS	.	A	ALA/THR	868,3538	335.2+/-303.8	82,704,1417	102	96	98		2077	0.9	0.1	12	dbSNP_86	98	3806,4794	524.3+/-380.5	784,2238,1278	yes	missense	PHC1	NM_004426.2	58	866,2942,2695	GG,GA,AA		44.2558,19.7004,35.9373	benign	693/1005	9086898	4674,8332	2203	4300	6503	SO:0001583	missense	1911	exon10			GCTAATACTCCAA	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2077A>G	12.37:g.9086898A>G	ENSP00000440674:p.Thr693Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	94	48	0.510638	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	803	0.3676739926739927	71	0.1443089430894309	135	0.3729281767955801	268	0.46853146853146854	329	0.4340369393139842	A	8.336	0.827685	0.16749	0.197004	0.442558	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.36340	1.99;1.99;1.99;1.99;1.26	5.32	0.937	0.19494	.	0.365346	0.27008	N	0.021396	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	9	0.25106	T	0.35	-4.416	3.3522	0.07156	0.425:0.3732:0.0766:0.1252	rs1049925;rs12818486;rs16915798;rs17294227;rs17729971;rs52819214;rs59173968;rs1049925	693	P78364	PHC1_HUMAN	A	693;693;648;693;299	ENSP00000440674:T693A;ENSP00000251757:T693A;ENSP00000399194:T648A;ENSP00000437659:T693A;ENSP00000440488:T299A	ENSP00000251757:T693A	T	+	1	0	PHC1	8978165	0.000000	0.05858	0.105000	0.21289	0.907000	0.53573	-0.529000	0.06186	-0.009000	0.14296	0.533000	0.62120	ACT	A|0.630;G|0.370	0.370	strong		0.448	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		G	9086898	A	G	9086898	3	3	22	1	0	0	0	0	1	0	0	0	11816	391	14	2	2111	2	PHC1	12	9086898	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12639	9086898	124764997	6617	11725										
KLRG1	10219	hgsc.bcm.edu	37	chr12	9142297	9142297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaagcccagaatgactaTggaccacagcaaaaatgtga	8	11	0	3	rs1805723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9142297T>C	ENST00000266551.4	+	1	81	c.66T>C	c.(64-66)taT>taC	p.Y22Y	KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000356986.3_Silent_p.Y22Y	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	22					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						AGAATGACTATGGACCACAGC	0.428													t|||	1731	0.345647	0.1377	0.3775	5008	,	,		-128	0.3998		0.4334	False		,,,				2504	0.4581				p.Y22Y		Atlas-SNP	.											.	KLRG1	16	.	0			c.T66C						PASS	.	C		761,3645	310.5+/-291.6	63,635,1505	92	88	89		66	-0.1	0	12	dbSNP_92	89	3836,4764	541.4+/-384.0	852,2132,1316	no	coding-synonymous	KLRG1	NM_005810.3		915,2767,2821	CC,CT,TT		44.6047,17.2719,35.3452		22/190	9142297	4597,8409	2203	4300	6503	SO:0001819	synonymous_variant	10219	exon1			TGACTATGGACCA	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.66T>C	12.37:g.9142297T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_005810	B7ZAM2|O43198|O75613	Silent	SNP	ENST00000266551.4	37																																																																																				T|0.639;C|0.361	0.361	strong		0.428	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		C	9142297	T	C	9142297	2	2	22	1	0	0	0	0	0	0	0	1	8421	1471	51	2		2	KLRG1	12	9142297	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	55399	9142297	124709598	6618	11726										
A2M	2	hgsc.bcm.edu	37	chr12	9251209	9251209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaggaactcaccgaggaCgccgagagctcagcatcagg	13	13	3	1	rs185750870		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9251209C>T	ENST00000318602.7	-	15	2152	c.1845G>A	c.(1843-1845)gcG>gcA	p.A615A		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	615					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCACCGAGGACGCCGAGAGCT	0.572													C|||	18	0.00359425	0.0129	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.A615A		Atlas-SNP	.											.	A2M	180	.	0			c.G1845A						PASS	.	C		41,4365		0,41,2162	28	28	28		1845	-11.1	0	12		28	1,8597		0,1,4298	no	coding-synonymous	A2M	NM_000014.4		0,42,6460	TT,TC,CC		0.0116,0.9305,0.323		615/1475	9251209	42,12962	2203	4299	6502	SO:0001819	synonymous_variant	2	exon15			CGAGGACGCCGAG	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1845G>A	12.37:g.9251209C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	77	42	0.545455	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																			C|0.998;T|0.002	0.002	strong		0.572	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9251209	C	T	9251209	2	4	22	1	0	0	0	0	0	0	0	1	4	523	19	1		1	A2M	12	9251209	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108912	9251209	124600686	6619	11727										
PZP	5858	hgsc.bcm.edu	37	chr12	9312951	9312951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttggccttgatctcctgcGtcagctgctgggtttcattc	10	13	3	1	rs57006764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9312951G>A	ENST00000261336.2	-	24	3036	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.T789M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1003			T -> M (in dbSNP:rs57006764).		female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATCTCCTGCGTCAGCTGCTG	0.428													G|||	1356	0.270767	0.1619	0.2695	5008	,	,		-128	0.4762		0.1909	False		,,,				2504	0.2894				p.T1003M	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											PZP_ENST00000381997,NS,carcinoma,+1,2	PZP	422	2	0			c.C3008T						PASS	.	G	MET/THR	710,3696	293.6+/-282.7	68,574,1561	130	119	123		3008	3.7	0	12	dbSNP_129	123	1456,7144	278.2+/-293.3	116,1224,2960	yes	missense	PZP	NM_002864.2	81	184,1798,4521	AA,AG,GG		16.9302,16.1144,16.6539	probably-damaging	1003/1483	9312951	2166,10840	2203	4300	6503	SO:0001583	missense	5858	exon24			TCCTGCGTCAGCT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3008C>T	12.37:g.9312951G>A	ENSP00000261336:p.Thr1003Met	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	125	61	0.488	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	577	0.2641941391941392	105	0.21341463414634146	92	0.2541436464088398	253	0.4423076923076923	127	0.16754617414248021	G	11.01	1.514300	0.27123	0.161144	0.169302	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.40225	1.04;1.04	4.56	3.67	0.42095	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.075423	0.48286	U	0.000182	T	0.00012	0.0000	M	0.90369	3.11	0.43203	P	0.004940999999999973	D;D	0.89917	1.0;1.0	D;D	0.83275	0.951;0.996	T	0.38090	-0.9677	9	0.87932	D	0	.	8.6441	0.33994	0.0835:0.1509:0.7656:0.0	rs57006764;rs61740800	789;1003	P20742-2;P20742	.;PZP_HUMAN	M	1003;789	ENSP00000261336:T1003M;ENSP00000371427:T789M	ENSP00000261336:T1003M	T	-	2	0	PZP	9204218	0.993000	0.37304	0.031000	0.17742	0.009000	0.06853	2.458000	0.45014	1.044000	0.40200	0.563000	0.77884	ACG	G|0.805;A|0.195	0.195	strong		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9312951	G	A	9312951	3	1	22	1	0	0	0	0	1	0	0	0	12869	1145	40	1	1492	1	PZP	12	9312951	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61742	9312951	124538944	6620	11728										
PZP	5858	hgsc.bcm.edu	37	chr12	9317784	9317784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtggccttgagtgtgaagAcctctccacgaatcacagag	11	12	2	4	rs2277413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9317784A>G	ENST00000261336.2	-	19	2466	c.2438T>C	c.(2437-2439)gTc>gCc	p.V813A	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.V682A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	813			V -> A (in dbSNP:rs2277413).		female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAGTGTGAAGACCTCTCCACG	0.498													A|||	1934	0.386182	0.3411	0.2421	5008	,	,		-128	0.5357		0.3419	False		,,,				2504	0.4407				p.V813A	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.T2438C						PASS	.	A	ALA/VAL	1464,2942	463.4+/-353.5	261,942,1000	127	120	122		2438	-0.9	1	12	dbSNP_100	122	2537,6063	408.7+/-349.6	381,1775,2144	no	missense	PZP	NM_002864.2	64	642,2717,3144	GG,GA,AA		29.5,33.2274,30.7627	benign	813/1483	9317784	4001,9005	2203	4300	6503	SO:0001583	missense	5858	exon19			GTGAAGACCTCTC	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2438T>C	12.37:g.9317784A>G	ENSP00000261336:p.Val813Ala	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	179	179	1	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	732	0.33516483516483514	137	0.2784552845528455	97	0.26795580110497236	282	0.493006993006993	216	0.2849604221635884	A	0.003	-2.442208	0.00180	0.332274	0.295	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.24908	1.83;1.83	3.7	-0.929	0.10444	Alpha-2-macroglobulin (1);	0.671497	0.13428	N	0.388670	T	0.00012	0.0000	N	0.02420	-0.555	0.80722	P	0.0	B;B;B	0.16802	0.001;0.019;0.001	B;B;B	0.15484	0.002;0.013;0.002	T	0.43360	-0.9396	9	0.02654	T	1	.	3.0317	0.06109	0.268:0.1205:0.4895:0.122	rs2277413;rs59075755;rs2277413	813;682;813	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	A	813;682	ENSP00000261336:V813A;ENSP00000371427:V682A	ENSP00000261336:V813A	V	-	2	0	PZP	9209051	0.000000	0.05858	0.990000	0.47175	0.212000	0.24457	-1.395000	0.02516	0.004000	0.14682	-1.483000	0.00984	GTC	A|0.677;G|0.323	0.323	strong		0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		G	9317784	A	G	9317784	3	3	22	1	0	0	0	0	1	0	0	0	12869	275	10	2	2082	2	PZP	12	9317784	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4833	9317784	124534111	6621	11729										
PZP	5858	hgsc.bcm.edu	37	chr12	9321501	9321501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctactgctcctgcagacaCggaagggatgactgaacacg	11	12	0	3	rs3213832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9321501C>T	ENST00000261336.2	-	17	2099	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.V560M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	691	Bait region.		V -> M (in dbSNP:rs3213832). {ECO:0000269|PubMed:1692292}.		female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTGCAGACACGGAAGGGATG	0.378													C|||	472	0.0942492	0.1785	0.036	5008	,	,		-128	0.0476		0.0636	False		,,,				2504	0.1012				p.V691M	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.G2071A						PASS	.	C	MET/VAL	663,3743	281.4+/-275.9	51,561,1591	126	126	126		2071	-2.9	0	12	dbSNP_106	126	525,8075	148.0+/-203.3	12,501,3787	yes	missense	PZP	NM_002864.2	21	63,1062,5378	TT,TC,CC		6.1047,15.0477,9.1342	benign	691/1483	9321501	1188,11818	2203	4300	6503	SO:0001583	missense	5858	exon17			CAGACACGGAAGG	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2071G>A	12.37:g.9321501C>T	ENSP00000261336:p.Val691Met	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	75	44	0.586667	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	175	0.08012820512820513	86	0.17479674796747968	15	0.04143646408839779	26	0.045454545454545456	48	0.0633245382585752	C	1.030	-0.682213	0.03353	0.150477	0.061047	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35048	1.53;1.33	1.69	-2.88	0.05682	.	45.459000	0.00357	U	0.000025	T	0.00073	0.0002	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.16396	0.0;0.017;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.12760	-1.0535	9	0.33141	T	0.24	.	6.16	0.20358	0.0:0.5927:0.0:0.4073	rs3213832;rs52791055;rs3213832	691;560;691	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	M	691;560	ENSP00000261336:V691M;ENSP00000371427:V560M	ENSP00000261336:V691M	V	-	1	0	PZP	9212768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.232000	0.02936	-0.588000	0.05882	-1.458000	0.01028	GTG	C|0.907;T|0.093	0.093	strong		0.378	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9321501	C	T	9321501	3	4	22	1	0	0	0	0	1	0	0	0	12869	536	19	1	2457	1	PZP	12	9321501	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3717	9321501	124530394	6622	11730										
PZP	5858	hgsc.bcm.edu	37	chr12	9334571	9334571	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttatgttaaatcgctcacCttgttggctagacagttttc	7	8	1	1	rs3741849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9334571C>T	ENST00000261336.2	-	14	1717	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K	PZP_ENST00000381997.2_Splice_Site_p.K432K	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	563					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATCGCTCACCTTGTTGGCTA	0.358													C|||	475	0.0948482	0.1831	0.0548	5008	,	,		-128	0.0337		0.0934	False		,,,				2504	0.0685				p.K563K	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											PZP_ENST00000381997,colon,carcinoma,-1,2	PZP	422	2	0			c.G1689A						PASS	.	C		696,3710	266.8+/-267.5	51,594,1558	48	51	50		1689	3.9	0.9	12	dbSNP_107	50	872,7728	186.3+/-233.8	42,788,3470	yes	coding-synonymous-near-splice	PZP	NM_002864.2		93,1382,5028	TT,TC,CC		10.1395,15.7966,12.056		563/1483	9334571	1568,11438	2203	4300	6503	SO:0001630	splice_region_variant	5858	exon14			GCTCACCTTGTTG	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1689+1G>A	12.37:g.9334571C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	134	76	0.567164	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																			C|0.886;T|0.114	0.114	strong		0.358	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Silent	T	9334571	C	T	9334571	5	4	22	1	0	0	0	0	0	0	1	0	12869	695	24	2	2851	2	PZP	12	9334571	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13070	9334571	124517324	6623	11731										
CLEC2D	29121	hgsc.bcm.edu	37	chr12	9833524	9833524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataattttttccaggttgtCtgcattcaaaagagcattct	6	7	3	1	rs3764022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9833524C>G	ENST00000290855.6	+	2	89	c.67C>G	c.(67-69)Ctg>Gtg	p.L23V	CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000261339.6_Intron|CLEC2D_ENST00000543300.1_Missense_Mutation_p.L23V|CLEC2D_ENST00000487752.1_3'UTR|CLEC2D_ENST00000261340.7_Missense_Mutation_p.L23V	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	23			L -> V (in dbSNP:rs3764022). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20843815}.		cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TCCAGGTTGTCTGCATTCAAA	0.289													C|||	1464	0.292332	0.1006	0.281	5008	,	,		-128	0.3641		0.338	False		,,,				2504	0.4387				p.L23V		Atlas-SNP	.											.	CLEC2D	54	.	0			c.C67G						PASS	.	C	VAL/LEU,,VAL/LEU,,VAL/LEU	652,3752	279.3+/-274.7	45,562,1595	109	105	106		67,,67,,67	0.4	0	12	dbSNP_107	106	2788,5810	440.8+/-359.6	436,1916,1947	yes	missense,intron,missense,intron,missense	CLEC2D	NM_001004419.3,NM_001197317.1,NM_001197318.1,NM_001197319.1,NM_013269.4	32,,32,,32	481,2478,3542	GG,GC,CC		32.4261,14.8047,26.4575	probably-damaging,,probably-damaging,,probably-damaging	23/195,,23/133,,23/192	9833524	3440,9562	2202	4299	6501	SO:0001583	missense	29121	exon2			GGTTGTCTGCATT	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"C-type lectin domain containing"	14351	protein-coding gene	gene with protein product	"C-type lectin related f", "lectin-like transcript 1"	605659	"C-type lectin superfamily 2, member D"				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.67C>G	12.37:g.9833524C>G	ENSP00000290855:p.Leu23Val	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_001004419	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	CCDS8602.1	626	0.2866300366300366	50	0.1016260162601626	120	0.3314917127071823	196	0.34265734265734266	260	0.34300791556728233	C	3.592	-0.083370	0.07141	0.148047	0.324261	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000543300;ENST00000430909	T;T;T;T	0.11930	4.42;4.58;2.73;4.21	1.31	0.395	0.16304	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.24092	0.017;0.097	B;B	0.13407	0.004;0.009	T	0.49263	-0.8958	7	.	.	.	-0.0039	3.5716	0.07920	0.0:0.7377:0.0:0.2623	rs3764022;rs17806644;rs17858519;rs52825100;rs58083171;rs3764022	23;23	Q9UHP7;Q9UHP7-3	CLC2D_HUMAN;.	V	23;23;23;2	ENSP00000261340:L23V;ENSP00000290855:L23V;ENSP00000443065:L23V;ENSP00000413045:L2V	.	L	+	1	2	CLEC2D	9724791	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	-0.327000	0.07955	0.141000	0.18875	0.436000	0.28706	CTG	C|0.732;G|0.268	0.268	strong		0.289	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		G	9833524	C	G	9833524	3	3	22	1	0	0	0	0	1	0	0	0	3508	912	32	4	73	4	CLEC2D	12	9833524	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	498953	9833524	124018371	6624	11732										
KLRF1	51348	hgsc.bcm.edu	37	chr12	9985915	9985915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtttctcagggagtattGctaaaatgccaaaaaggaag	10	6	1	0	rs2232548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:9985915G>T	ENST00000279544.3	+	3	265	c.201G>T	c.(199-201)ttG>ttT	p.L67F	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Missense_Mutation_p.L67F|KLRF1_ENST00000324214.4_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	67			L -> F (in dbSNP:rs2232548).		cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						AGGGAGTATTGCTAAAATGCC	0.353													G|||	400	0.0798722	0.121	0.0821	5008	,	,		-128	0.0476		0.0775	False		,,,				2504	0.0583				p.L67F		Atlas-SNP	.											.	KLRF1	27	.	0			c.G201T						PASS	.	G	PHE/LEU	380,3320		26,328,1496	96	91	93		201	2.6	1	12	dbSNP_98	93	634,7556		31,572,3492	yes	missense	KLRF1	NM_016523.1	22	57,900,4988	TT,TG,GG		7.7411,10.2703,8.5282	benign	67/233	9985915	1014,10876	1850	4095	5945	SO:0001583	missense	51348	exon3			AGTATTGCTAAAA	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.201G>T	12.37:g.9985915G>T	ENSP00000279544:p.Leu67Phe	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	42	23	0.547619	NM_016523	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	CCDS41750.1	158	0.07234432234432235	57	0.11585365853658537	31	0.0856353591160221	19	0.033216783216783216	51	0.06728232189973615	G	12.20	1.867006	0.32977	0.102703	0.077411	ENSG00000150045	ENST00000279544;ENST00000537723	T;T	0.59083	4.96;0.29	2.57	2.57	0.30868	.	.	.	.	.	T	0.01558	0.0050	L	0.34521	1.04	0.41812	P	0.010024000000000033	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.27739	-1.0065	7	.	.	.	.	8.8546	0.35221	0.0:0.0:1.0:0.0	rs2232548;rs17806460;rs60994638;rs2232548	67;67	Q9NZS2;Q4KN30	KLRF1_HUMAN;.	F	67	ENSP00000279544:L67F;ENSP00000443054:L67F	.	L	+	3	2	KLRF1	9877182	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	2.285000	0.43487	1.786000	0.52430	0.461000	0.40582	TTG	G|0.914;T|0.086	0.086	strong		0.353	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		T	9985915	G	T	9985915	3	4	22	1	0	0	0	0	1	0	0	0	8420	1310	46	4	211	4	KLRF1	12	9985915	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152391	9985915	123865980	6625	11733										
CLEC1B	51266	hgsc.bcm.edu	37	chr12	10150961	10150961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccatcacacgccaccagGaggaggatgcagagccaact	11	13	1	1	rs2273987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10150961G>A	ENST00000298527.6	-	2	262	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CLEC1B_ENST00000348658.4_Intron|CLEC1B_ENST00000428126.2_Intron	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	28			S -> F (in dbSNP:rs2273987).		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S28F(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ACGCCACCAGGAGGAGGATGC	0.562													G|||	450	0.0898562	0.0522	0.0504	5008	,	,		18063	0.1706		0.0865	False		,,,				2504	0.089				p.S28F		Atlas-SNP	.											CLEC1B,NS,carcinoma,+1,2	CLEC1B	39	2	1	Substitution - Missense(1)	stomach(1)	c.C83T						PASS	.	G	,PHE/SER	212,3992		9,194,1899	99	106	104		,83	4.4	0.4	12	dbSNP_100	104	683,7739		23,637,3551	yes	intron,missense	CLEC1B	NM_001099431.1,NM_016509.3	,155	32,831,5450	AA,AG,GG		8.1097,5.0428,7.0885	,possibly-damaging	,28/230	10150961	895,11731	2102	4211	6313	SO:0001583	missense	51266	exon2			CACCAGGAGGAGG	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.83C>T	12.37:g.10150961G>A	ENSP00000298527:p.Ser28Phe	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	193	94	0.487047	NM_016509	Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	CCDS41752.1	214	0.09798534798534798	25	0.0508130081300813	15	0.04143646408839779	113	0.19755244755244755	61	0.08047493403693931	G	13.74	2.328352	0.41197	0.050428	0.081097	ENSG00000165682	ENST00000298527	T	0.01516	4.81	4.37	4.37	0.52481	.	0.418107	0.20454	N	0.092030	T	0.00012	0.0000	M	0.76838	2.35	0.20489	P	0.999893407	D	0.61080	0.989	P	0.57283	0.817	T	0.49679	-0.8914	9	0.40728	T	0.16	.	12.3952	0.55380	0.0:0.0:1.0:0.0	rs2273987;rs61392058;rs2273987	28	Q9P126	CLC1B_HUMAN	F	28	ENSP00000298527:S28F	ENSP00000298527:S28F	S	-	2	0	CLEC1B	10042228	0.177000	0.23109	0.430000	0.26722	0.414000	0.31173	4.546000	0.60705	1.968000	0.57251	0.305000	0.20034	TCC	G|0.909;A|0.091	0.091	strong		0.562	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		A	10150961	G	A	10150961	3	1	22	1	0	0	0	0	1	0	0	0	3506	1174	41	2	626	2	CLEC1B	12	10150961	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165046	10150961	123700934	6626	11734										
CLEC12B	387837	hgsc.bcm.edu	37	chr12	10163381	10163381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgaagaagtgacctacgCgacactcacatttcaggatt	9	10	3	3	rs11833101|rs386760228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10163381C>T	ENST00000338896.5	+	1	151	c.23C>T	c.(22-24)gCg>gTg	p.A8V	CLEC1B_ENST00000428126.2_Intron|CLEC12B_ENST00000396502.1_Missense_Mutation_p.A8V	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GTGACCTACGCGACACTCACA	0.398													C|||	160	0.0319489	0.1135	0.0144	5008	,	,		20629	0.0		0.0	False		,,,				2504	0.0				p.A8V		Atlas-SNP	.											.	CLEC12B	25	.	0			c.C23T						PASS	.	C	VAL/ALA,VAL/ALA	334,4072	170.1+/-200.6	12,310,1881	61	58	59		23,23	4	0.3	12	dbSNP_120	59	0,8600		0,0,4300	yes	missense,missense	CLEC12B	NM_001129998.1,NM_205852.2	64,64	12,310,6181	TT,TC,CC		0.0,7.5806,2.568	possibly-damaging,possibly-damaging	8/277,8/233	10163381	334,12672	2203	4300	6503	SO:0001583	missense	387837	exon1			CCTACGCGACACT	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.23C>T	12.37:g.10163381C>T	ENSP00000344563:p.Ala8Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	77	28	0.363636	NM_001129998	Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	CCDS44830.1	60	0.027472527472527472	54	0.10975609756097561	6	0.016574585635359115	0	0.0	0	0.0	C	12.83	2.054910	0.36277	0.075806	0.0	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.01629	4.72;5.01	4.88	4.0	0.46444	.	0.368895	0.22840	N	0.054991	T	0.00073	0.0002	M	0.69823	2.125	0.18873	N	0.999986	B;P;P	0.44690	0.206;0.454;0.841	B;B;B	0.33690	0.022;0.049;0.168	T	0.50841	-0.8780	10	0.62326	D	0.03	.	9.8308	0.40941	0.0:0.9025:0.0:0.0975	rs11833101;rs56980128	8;8;8	Q2HXU8;Q2HXU8-2;F5H4H7	CL12B_HUMAN;.;.	V	8	ENSP00000379759:A8V;ENSP00000344563:A8V	ENSP00000344563:A8V	A	+	2	0	CLEC12B	10054648	0.000000	0.05858	0.322000	0.25334	0.601000	0.36947	0.634000	0.24614	1.390000	0.46547	0.561000	0.74099	GCG	C|0.976;T|0.024	0.024	strong		0.398	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		T	10163381	C	T	10163381	3	4	22	1	0	0	0	0	1	0	0	0	3498	768	27	1	25	1	CLEC12B	12	10163381	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12420	10163381	123688514	6627	11735										
CLEC1A	51267	hgsc.bcm.edu	37	chr12	10224073	10224073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaggatggccacacagtcTctgcttcttgggctggtgac	12	10	2	1	rs77910243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10224073T>G	ENST00000315330.4	-	6	764	c.702A>C	c.(700-702)agA>agC	p.R234S	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R201S|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R142S	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	234	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CCACACAGTCTCTGCTTCTTG	0.378													T|||	51	0.0101837	0.0182	0.0115	5008	,	,		19919	0.0		0.0179	False		,,,				2504	0.001				p.R234S		Atlas-SNP	.											.	CLEC1A	48	.	0			c.A702C						PASS	.	T	SER/ARG	96,4310	77.8+/-116.1	1,94,2108	175	162	166		702	3.6	1	12	dbSNP_131	166	154,8446	74.2+/-136.8	2,150,4148	yes	missense	CLEC1A	NM_016511.2	110	3,244,6256	GG,GT,TT		1.7907,2.1788,1.9222	probably-damaging	234/281	10224073	250,12756	2203	4300	6503	SO:0001583	missense	51267	exon6			ACAGTCTCTGCTT	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.702A>C	12.37:g.10224073T>G	ENSP00000326407:p.Arg234Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	95	31	0.326316	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	30	0.013736263736263736	7	0.014227642276422764	4	0.011049723756906077	0	0.0	19	0.025065963060686015	T	15.20	2.763480	0.49574	0.021788	0.017907	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.16324	2.35;2.35;2.35	5.42	3.59	0.41128	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.229300	0.30999	N	0.008449	T	0.10680	0.0261	M	0.66939	2.045	0.33199	D	0.551847	P;D;B	0.55385	0.476;0.971;0.166	B;P;B	0.58210	0.159;0.835;0.112	T	0.22836	-1.0205	10	0.19590	T	0.45	.	7.779	0.29054	0.0:0.8032:0.0:0.1968	.	142;201;234	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	S	234;201;142	ENSP00000326407:R234S;ENSP00000415048:R201S;ENSP00000417010:R142S	ENSP00000326407:R234S	R	-	3	2	CLEC1A	10115340	0.972000	0.33761	0.987000	0.45799	0.587000	0.36485	0.261000	0.18442	0.639000	0.30564	-0.468000	0.05107	AGA	T|0.983;G|0.017	0.017	strong		0.378	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		G	10224073	T	G	10224073	3	3	22	1	0	0	0	0	1	0	0	0	3505	1548	54	5	144	5	CLEC1A	12	10224073	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60692	10224073	123627822	6628	11736										
CLEC1A	51267	hgsc.bcm.edu	37	chr12	10251445	10251445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgccgagttgtggcagagCcttgagaatgcaggctcatg	15	8	1	2	rs2306894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10251445C>G	ENST00000315330.4	-	1	139	c.77G>C	c.(76-78)gGc>gCc	p.G26A	CLEC1A_ENST00000457018.2_Missense_Mutation_p.G26A|CLEC1A_ENST00000420265.2_Missense_Mutation_p.G26A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	26			G -> A (in dbSNP:rs2306894). {ECO:0000269|PubMed:10671229, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G26A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TGTGGCAGAGCCTTGAGAATG	0.547													G|||	3358	0.670527	0.8918	0.6009	5008	,	,		17752	0.3502		0.8728	False		,,,				2504	0.5429				p.G26A		Atlas-SNP	.											CLEC1A,colon,carcinoma,0,2	CLEC1A	48	2	1	Substitution - Missense(1)	stomach(1)	c.G77C						PASS	.	G	ALA/GLY	3961,445	207.5+/-228.8	1786,389,28	102	83	89		77	4.7	0	12	dbSNP_100	89	7560,1040	214.3+/-254.0	3342,876,82	yes	missense	CLEC1A	NM_016511.2	60	5128,1265,110	GG,GC,CC		12.093,10.0999,11.4178	benign	26/281	10251445	11521,1485	2203	4300	6503	SO:0001583	missense	51267	exon1			GCAGAGCCTTGAG	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.77G>C	12.37:g.10251445C>G	ENSP00000326407:p.Gly26Ala	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	172	172	1	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	1521	0.6964285714285714	428	0.8699186991869918	239	0.6602209944751382	190	0.3321678321678322	664	0.8759894459102903	G	1.549	-0.539636	0.04053	0.899001	0.87907	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265;ENST00000414501	T;T;T;T	0.38887	5.12;5.49;5.02;1.11	5.55	4.66	0.58398	.	0.349225	0.24869	N	0.034957	T	0.00012	0.0000	N	0.00742	-1.23	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34925	-0.9809	9	0.07325	T	0.83	.	7.8886	0.29665	0.0861:0.1619:0.7521:0.0	rs2306894;rs17205927;rs52792342;rs61030141;rs2306894	26;26;26	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	A	26	ENSP00000326407:G26A;ENSP00000415048:G26A;ENSP00000417010:G26A;ENSP00000396272:G26A	ENSP00000326407:G26A	G	-	2	0	CLEC1A	10142712	0.265000	0.24102	0.001000	0.08648	0.144000	0.21451	0.958000	0.29227	0.715000	0.32103	-0.127000	0.14921	GGC	C|0.179;G|0.819	0.819	strong		0.547	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		G	10251445	C	G	10251445	3	3	22	1	0	0	0	0	1	0	0	0	3505	739	26	4	789	4	CLEC1A	12	10251445	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27372	10251445	123600450	6629	11737										
TAS2R8	50836	hgsc.bcm.edu	37	chr12	10959031	10959031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaacaggttaaagagagtCaagggttcaaagtatggtat	12	4	2	1	rs1548803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10959031C>T	ENST00000240615.2	-	1	861	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	183					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TAAAGAGAGTCAAGGGTTCAA	0.323													C|||	2524	0.503994	0.1641	0.5692	5008	,	,		19896	0.6448		0.6789	False		,,,				2504	0.592				p.L183L		Atlas-SNP	.											.	TAS2R8	42	.	0			c.G549A						PASS	.	C		1026,3380	377.8+/-322.6	124,778,1301	149	133	138		549	-3.5	0	12	dbSNP_88	138	5190,3410	636.6+/-399.1	1578,2034,688	no	coding-synonymous	TAS2R8	NM_023918.1		1702,2812,1989	TT,TC,CC		39.6512,23.2864,47.7933		183/310	10959031	6216,6790	2203	4300	6503	SO:0001819	synonymous_variant	50836	exon1			GAGAGTCAAGGGT	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.549G>A	12.37:g.10959031C>T		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	165	72	0.436364	NM_023918	Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	CCDS8632.1																																																																																			C|0.498;T|0.502	0.502	strong		0.323	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			T	10959031	C	T	10959031	2	4	22	1	0	0	0	0	0	0	0	1	15584	825	29	2		2	TAS2R8	12	10959031	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	707586	10959031	122892864	6630	11738										
TAS2R9	50835	hgsc.bcm.edu	37	chr12	10962115	10962115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggataaagggaaccatcAcccccaggttcagggttaac	10	10	2	0	rs3741845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:10962115A>G	ENST00000240691.2	-	1	652	c.560T>C	c.(559-561)gTg>gCg	p.V187A	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	187			V -> A (in dbSNP:rs3741845). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15744053}.		detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGAACCATCACCCCCAGGTT	0.398													a|||	2659	0.53095	0.1982	0.5749	5008	,	,		20313	0.7183		0.6839	False		,,,				2504	0.5992				p.V187A		Atlas-SNP	.											.	TAS2R9	39	.	0			c.T560C						PASS	.	C	ALA/VAL	1148,3258	405.1+/-333.4	160,828,1215	77	76	76		560	-3.4	0	12	dbSNP_107	76	5268,3332	642.4+/-399.8	1626,2016,658	yes	missense	TAS2R9	NM_023917.2	64	1786,2844,1873	GG,GA,AA		38.7442,26.0554,49.3311	benign	187/313	10962115	6416,6590	2203	4300	6503	SO:0001583	missense	50835	exon1			ACCATCACCCCCA	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.560T>C	12.37:g.10962115A>G	ENSP00000240691:p.Val187Ala	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	1258	0.576007326007326	122	0.24796747967479674	217	0.5994475138121547	402	0.7027972027972028	517	0.6820580474934037	a	0.846	-0.740210	0.03088	0.260554	0.612558	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.94	-3.44	0.04796	GPCR, rhodopsin-like superfamily (1);	0.963080	0.08410	N	0.950106	T	0.00012	0.0000	N	0.00991	-1.07	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37957	-0.9683	9	0.07030	T	0.85	.	7.5536	0.27812	0.2663:0.5366:0.1971:0.0	rs3741845;rs52807644;rs57707743;rs3741845	187	Q9NYW1	TA2R9_HUMAN	A	187	ENSP00000240691:V187A	ENSP00000240691:V187A	V	-	2	0	TAS2R9	10853382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.109000	0.00600	-0.834000	0.04239	-2.499000	0.00192	GTG	G|0.526;N|0.001	0.526	strong		0.398	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			G	10962115	A	G	10962115	3	3	22	1	0	0	0	0	1	0	0	0	15585	159	6	2	382	2	TAS2R9	12	10962115	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3084	10962115	122889780	6631	11739										
TAS2R50	259296	hgsc.bcm.edu	37	chr12	11138852	11138852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatcttcttgagatgtttaCacagagaacagattagcatc	8	8	2	3	rs1376251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11138852C>T	ENST00000506868.1	-	1	659	c.608G>A	c.(607-609)tGt>tAt	p.C203Y	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	203			C -> Y (in dbSNP:rs1376251). {ECO:0000269|PubMed:12379855}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GAGATGTTTACACAGAGAACA	0.413													C|||	2055	0.410343	0.056	0.3775	5008	,	,		20640	0.755		0.3579	False		,,,				2504	0.6115				p.C203Y		Atlas-SNP	.											.	TAS2R50	37	.	0			c.G608A	GRCh37	CM053427	TAS2R50	M	rs1376251	PASS	.	C	TYR/CYS	420,3986	204.8+/-226.9	20,380,1803	140	132	135		608	1.2	0.1	12	dbSNP_88	135	2878,5722	451.3+/-362.6	495,1888,1917	yes	missense	TAS2R50	NM_176890.2	194	515,2268,3720	TT,TC,CC		33.4651,9.5325,25.3575	benign	203/300	11138852	3298,9708	2203	4300	6503	SO:0001583	missense	259296	exon1			TGTTTACACAGAG	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.608G>A	12.37:g.11138852C>T	ENSP00000424040:p.Cys203Tyr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	139	61	0.438849	NM_176890	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	868	0.3974358974358974	26	0.052845528455284556	150	0.4143646408839779	426	0.7447552447552448	266	0.35092348284960423	C	7.954	0.745525	0.15710	0.095325	0.334651	ENSG00000212126	ENST00000506868	T	0.36520	1.25	2.19	1.22	0.21188	.	0.531082	0.16393	U	0.216373	T	0.00012	0.0000	M	0.86028	2.79	0.58432	P	1.0000000000287557E-6	B	0.19583	0.037	B	0.27608	0.081	T	0.26985	-1.0087	9	0.27785	T	0.31	.	7.5054	0.27542	0.2586:0.7414:0.0:0.0	rs1376251;rs52810970;rs57200136;rs1376251	203	P59544	T2R50_HUMAN	Y	203	ENSP00000424040:C203Y	ENSP00000424040:C203Y	C	-	2	0	TAS2R50	11030119	0.336000	0.24757	0.078000	0.20375	0.492000	0.33523	1.588000	0.36633	0.217000	0.20800	0.313000	0.20887	TGT	C|0.687;A|0.002	.	strong		0.413	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		T	11138852	C	T	11138852	3	4	22	1	0	0	0	0	1	0	0	0	15581	478	17	2	295	2	TAS2R50	12	11138852	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176737	11138852	122713043	6632	11740										
TAS2R50	259296	hgsc.bcm.edu	37	chr12	11139305	11139305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaccaattctggagaccGccagagcagtgagaatttgg	12	9	1	3	rs142843602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11139305G>A	ENST00000506868.1	-	1	206	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	52					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCTGGAGACCGCCAGAGCAGT	0.378													G|||	27	0.00539137	0.0	0.0	5008	,	,		17272	0.0258		0.0	False		,,,				2504	0.001				p.A52V		Atlas-SNP	.											.	TAS2R50	37	.	0			c.C155T						PASS	.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	76	85	82		155	1.2	0	12	dbSNP_134	82	0,8600		0,0,4300	yes	missense	TAS2R50	NM_176890.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	52/300	11139305	1,13005	2203	4300	6503	SO:0001583	missense	259296	exon1			GAGACCGCCAGAG	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.155C>T	12.37:g.11139305G>A	ENSP00000424040:p.Ala52Val	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	199	93	0.467337	NM_176890	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	15	0.006868131868131868	0	0.0	0	0.0	15	0.026223776223776224	0	0.0	G	12.99	2.104800	0.37145	2.27E-4	0.0	ENSG00000212126	ENST00000506868	T	0.56275	0.47	2.19	1.24	0.21308	.	0.218955	0.26646	U	0.023231	T	0.27063	0.0663	L	0.58510	1.815	0.09310	N	1	D	0.58620	0.983	P	0.51742	0.678	T	0.22730	-1.0208	10	0.49607	T	0.09	.	4.5161	0.11935	0.0:0.2513:0.4926:0.2561	.	52	P59544	T2R50_HUMAN	V	52	ENSP00000424040:A52V	ENSP00000424040:A52V	A	-	2	0	TAS2R50	11030572	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-0.343000	0.07791	0.232000	0.21100	0.313000	0.20887	GCG	G|0.993;A|0.007	0.007	strong		0.378	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		A	11139305	G	A	11139305	3	1	22	1	0	0	0	0	1	0	0	0	15581	1087	38	1	748	1	TAS2R50	12	11139305	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	453	11139305	122712590	6633	11741										
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11149711	11149711	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagacaatttcttttggtCgcatcttaaaattccaaaac					rs10845279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11149711C>A	ENST00000538986.1	-	1	763	c.764G>T	c.(763-765)cGa>cTa	p.R255L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	255			R -> L (in dbSNP:rs10845279). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R255Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCTTTTGGTCGCATCTTAAA	0.373													C|||	2119	0.423123	0.0651	0.3847	5008	,	,		18928	0.755		0.3827	False		,,,				2504	0.6339				p.R255L		Atlas-SNP	.											TAS2R20,colon,carcinoma,0,1	TAS2R20	17	1	1	Substitution - Missense(1)	large_intestine(1)	c.G764T						scavenged	.	C	LEU/ARG	442,3964	212.8+/-232.6	18,406,1779	110	109	109		764	-5.3	0	12	dbSNP_120	109	3016,5584	465.2+/-366.4	544,1928,1828	yes	missense	TAS2R20	NM_176889.2	102	562,2334,3607	AA,AC,CC		35.0698,10.0318,26.5877	benign	255/310	11149711	3458,9548	2203	4300	6503	SO:0001583	missense	259295	exon1			TTTGGTCGCATCT	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.764G>T	12.37:g.11149711C>A	ENSP00000441624:p.Arg255Leu	Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	169	72	0.426035	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	C	0.008	-1.921931	0.00498	0.100318	0.350698	ENSG00000255837	ENST00000538986	T	0.00753	5.74	2.66	-5.32	0.02722	.	2.067560	0.05057	N	0.479233	T	0.00012	0.0000	N	0.00017	-2.83	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46638	-0.9177	9	0.02654	T	1	.	4.8332	0.13451	0.2999:0.1236:0.0:0.5765	rs10845279;rs60755728;rs10845279	255	P59543	T2R20_HUMAN	L	255	ENSP00000441624:R255L	ENSP00000441624:R255L	R	-	2	0	TAS2R20	11040978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.312000	0.02720	-1.408000	0.02040	-0.383000	0.06682	CGA	C|0.671;A|0.329	0.329	strong		0.373	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		A	11149711	C	A	11149711	3	1	22	1	0	0	0	0	1	0	0	0	15568	884	31	4	169	4	TAS2R20	12	11149711	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10406	11149711	122702184	6634	11742	241	2	25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11149720	11149720	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcttttggtcgcatcttaAaattccaaaacgatatgatt					rs10845280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11149720A>G	ENST00000538986.1	-	1	754	c.755T>C	c.(754-756)tTt>tCt	p.F252S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	252			F -> S (in dbSNP:rs10845280). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCGCATCTTAAAATTCCAAAA	0.388													G|||	2118	0.422923	0.0651	0.3847	5008	,	,		19131	0.755		0.3817	False		,,,				2504	0.6339				p.F252S		Atlas-SNP	.											.	TAS2R20	17	.	0			c.T755C						PASS	.	G	SER/PHE	442,3964	211.5+/-231.7	19,404,1780	112	111	112		755	-2.3	0	12	dbSNP_120	112	3016,5584	464.9+/-366.4	544,1928,1828	yes	missense	TAS2R20	NM_176889.2	155	563,2332,3608	GG,GA,AA		35.0698,10.0318,26.5877	benign	252/310	11149720	3458,9548	2203	4300	6503	SO:0001583	missense	259295	exon1			ATCTTAAAATTCC	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.755T>C	12.37:g.11149720A>G	ENSP00000441624:p.Phe252Ser	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	172	72	0.418605	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	a	0.490	-0.875796	0.02550	0.100318	0.350698	ENSG00000255837	ENST00000538986	T	0.35421	1.31	2.49	-2.3	0.06785	.	1.140010	0.06894	N	0.804836	T	0.00012	0.0000	N	0.04203	-0.255	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.36601	-0.9741	9	0.21540	T	0.41	.	5.6602	0.17664	0.4396:0.0:0.4277:0.1326	rs10845280;rs17743814;rs52818991;rs10845280	252	P59543	T2R20_HUMAN	S	252	ENSP00000441624:F252S	ENSP00000441624:F252S	F	-	2	0	TAS2R20	11040987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.736000	0.01845	-1.545000	0.01719	-3.103000	0.00063	TTT	A|0.670;G|0.329	0.329	strong		0.388	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		G	11149720	A	G	11149720	3	3	22	1	0	0	0	0	1	0	0	0	15568	14	1	2	178	2	TAS2R20	12	11149720	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9	11149720	122702175	6635	11743	241	2	25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11149769	11149769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtaaatggcaagtaataTgaggaaggaggtcacagttt	12	3	1	1	rs10845281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11149769T>C	ENST00000538986.1	-	1	705	c.706A>G	c.(706-708)Ata>Gta	p.I236V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	236			I -> V (in dbSNP:rs10845281). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCAAGTAATATGAGGAAGGAG	0.393													T|||	2118	0.422923	0.0651	0.3847	5008	,	,		20724	0.755		0.3817	False		,,,				2504	0.6339				p.I236V		Atlas-SNP	.											.	TAS2R20	17	.	0			c.A706G						PASS	.	T	VAL/ILE	442,3964	212.2+/-232.1	18,406,1779	154	152	152		706	-1.6	0	12	dbSNP_120	152	3016,5584	465.5+/-366.5	544,1928,1828	yes	missense	TAS2R20	NM_176889.2	29	562,2334,3607	CC,CT,TT		35.0698,10.0318,26.5877	benign	236/310	11149769	3458,9548	2203	4300	6503	SO:0001583	missense	259295	exon1			GTAATATGAGGAA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.706A>G	12.37:g.11149769T>C	ENSP00000441624:p.Ile236Val	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	202	84	0.415842	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	T	4.775	0.144169	0.09134	0.100318	0.350698	ENSG00000255837	ENST00000538986	T	0.00864	5.6	2.66	-1.57	0.08506	.	1.555360	0.04751	U	0.424564	T	0.00012	0.0000	L	0.31476	0.935	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.08166	-1.0735	9	0.62326	D	0.03	.	0.4216	0.00457	0.3201:0.1817:0.1247:0.3734	rs10845281;rs52830191;rs10845281	236	P59543	T2R20_HUMAN	V	236	ENSP00000441624:I236V	ENSP00000441624:I236V	I	-	1	0	TAS2R20	11041036	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.493000	0.06678	-2.198000	0.00308	ATA	T|0.675;C|0.325	0.325	strong		0.393	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		C	11149769	T	C	11149769	3	2	22	1	0	0	0	0	1	0	0	0	15568	1464	51	2	227	2	TAS2R20	12	11149769	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49	11149769	122702126	6636	11744			25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11150046	11150046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtgtgtttcatcacaagGtgacaaaccaaaaagaacaa	7	8	2	2	rs12226920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11150046G>T	ENST00000538986.1	-	1	428	c.429C>A	c.(427-429)caC>caA	p.H143Q	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	143			H -> Q (in dbSNP:rs12226920).	VCH -> ICQ (in Ref. 3; AAU21140). {ECO:0000305}.	sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCATCACAAGGTGACAAACCA	0.383													G|||	2119	0.423123	0.0651	0.3847	5008	,	,		20817	0.755		0.3827	False		,,,				2504	0.6339				p.H143Q		Atlas-SNP	.											.	TAS2R20	17	.	0			c.C429A						PASS	.	G	GLN/HIS	441,3965	211.2+/-231.4	18,405,1780	134	119	124		429	-4.8	0	12	dbSNP_120	124	3013,5587	463.2+/-365.9	544,1925,1831	yes	missense	TAS2R20	NM_176889.2	24	562,2330,3611	TT,TG,GG		35.0349,10.0091,26.557	benign	143/310	11150046	3454,9552	2203	4300	6503	SO:0001583	missense	259295	exon1			CACAAGGTGACAA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.429C>A	12.37:g.11150046G>T	ENSP00000441624:p.His143Gln	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	111	48	0.432432	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	G	4.234	0.042417	0.08196	0.100091	0.350349	ENSG00000255837	ENST00000538986	T	0.36520	1.25	2.93	-4.77	0.03219	.	1.298410	0.05758	N	0.604393	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.14805	0.011	B	0.22880	0.042	T	0.38329	-0.9666	9	0.27082	T	0.32	.	0.8786	0.01230	0.2054:0.1545:0.3359:0.3042	rs12226920;rs60423827;rs12226920	143	P59543	T2R20_HUMAN	Q	143	ENSP00000441624:H143Q	ENSP00000441624:H143Q	H	-	3	2	TAS2R20	11041313	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.459000	0.02370	-0.884000	0.03976	-0.312000	0.09012	CAC	G|0.671;T|0.329	0.329	strong		0.383	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		T	11150046	G	T	11150046	3	4	22	1	0	0	0	0	1	0	0	0	15568	1252	44	4	504	4	TAS2R20	12	11150046	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	277	11150046	122701849	6637	11745			25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11150214	11150214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgattggttactgcccaGgcattagaaataaaaattat	7	5	0	2	rs11054142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11150214G>A	ENST00000538986.1	-	1	260	c.261C>T	c.(259-261)gcC>gcT	p.A87A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	87					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTACTGCCCAGGCATTAGAAA	0.343													G|||	2118	0.422923	0.0651	0.3847	5008	,	,		19034	0.755		0.3817	False		,,,				2504	0.6339				p.A87A		Atlas-SNP	.											.	TAS2R20	17	.	0			c.C261T						PASS	.	G		431,3969		22,387,1791	57	63	61		261	-0.3	0	12	dbSNP_120	61	2982,5612		533,1916,1848	no	coding-synonymous	TAS2R20	NM_176889.2		555,2303,3639	AA,AG,GG		34.6986,9.7955,26.266		87/310	11150214	3413,9581	2200	4297	6497	SO:0001819	synonymous_variant	259295	exon1			TGCCCAGGCATTA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.261C>T	12.37:g.11150214G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	107	40	0.373832	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	CCDS8639.1																																																																																			G|0.672;A|0.328	0.328	strong		0.343	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		A	11150214	G	A	11150214	2	1	22	1	0	0	0	0	0	0	0	1	15568	987	35	2		2	TAS2R20	12	11150214	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	11150214	122701681	6638	11746			25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11150319	11150319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaaccaactctggagacTgccagagcagcaataatttg	9	10	1	2	rs11054143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11150319T>C	ENST00000538986.1	-	1	155	c.156A>G	c.(154-156)gcA>gcG	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	52					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTCTGGAGACTGCCAGAGCAG	0.343													C|||	2118	0.422923	0.0651	0.3847	5008	,	,		18136	0.755		0.3817	False		,,,				2504	0.6339				p.A52A		Atlas-SNP	.											.	TAS2R20	17	.	0			c.A156G						PASS	.	C		433,3971	729.6+/-410.1	18,397,1787	40	46	44		156	-5.5	0	12	dbSNP_120	44	3001,5597	650.8+/-400.8	539,1923,1837	no	coding-synonymous	TAS2R20	NM_176889.2		557,2320,3624	CC,CT,TT		34.9035,9.832,26.4113		52/310	11150319	3434,9568	2202	4299	6501	SO:0001819	synonymous_variant	259295	exon1			GGAGACTGCCAGA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.156A>G	12.37:g.11150319T>C		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	262	121	0.461832	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	CCDS8639.1																																																																																			T|0.678;C|0.322	0.322	strong		0.343	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		C	11150319	T	C	11150319	2	2	22	1	0	0	0	0	0	0	0	1	15568	1567	55	3		3	TAS2R20	12	11150319	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	105	11150319	122701576	6639	11747			25	54		6	5	609	N	T_G_C_A	7.704423e-05
TAS2R31	259290	hgsc.bcm.edu	37	chr12	11183708	11183708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagttcttacttctacactaTaaaaagctggattaaacaca	4	8	2	0	rs80125932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11183708T>C	ENST00000390675.2	-	1	298	c.227A>G	c.(226-228)tAt>tGt	p.Y76C	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	76					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TTCTACACTATAAAAAGCTGG	0.408																																					p.Y76C		Atlas-SNP	.											.	TAS2R31	24	.	0			c.A227G						PASS	.	T	CYS/TYR	98,4028		0,98,1965	81	95	91		227	1.1	0	12	dbSNP_131	91	880,7650		0,880,3385	no	missense	TAS2R31	NM_176885.2	194	0,978,5350	CC,CT,TT		10.3165,2.3752,7.7276	benign	76/310	11183708	978,11678	2063	4265	6328	SO:0001583	missense	259290	exon1			ACACTATAAAAAG	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.227A>G	12.37:g.11183708T>C	ENSP00000375093:p.Tyr76Cys	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	344	54	0.156977	NM_176885	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	T	5.935	0.356563	0.11239	0.023752	0.103165	ENSG00000256436	ENST00000390675	T	0.38240	1.15	2.45	1.15	0.20763	.	.	.	.	.	T	0.01061	0.0035	M	0.75777	2.31	0.09310	N	1	B	0.18863	0.031	B	0.27262	0.078	T	0.16541	-1.0399	9	0.54805	T	0.06	.	5.2988	0.15766	0.0:0.0:0.2988:0.7012	.	76	P59538	T2R31_HUMAN	C	76	ENSP00000375093:Y76C	ENSP00000375093:Y76C	Y	-	2	0	TAS2R31	11074975	0.001000	0.12720	0.005000	0.12908	0.116000	0.19942	0.134000	0.15932	0.151000	0.19162	0.163000	0.16589	TAT	T|0.871;C|0.129	0.129	strong		0.408	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183708	T	C	11183708	3	2	22	1	0	0	0	0	1	0	0	0	15571	1406	49	2	706	2	TAS2R31	12	11183708	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33389	11183708	122668187	6640	11748										
TAS2R43	259289	hgsc.bcm.edu	37	chr12	11244725	11244725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatcttttgtctcttgaacCactcaatggaatttaccagt	6	9	3	2	rs68157013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11244725C>G	ENST00000531678.1	-	1	187	c.104G>C	c.(103-105)tGg>tCg	p.W35S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	35				W -> S (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTCTTGAACCACTCAATGGA	0.383													.|||	3113	0.621605	0.0976	0.7118	5008	,	,		11851	0.9425		0.7525	False		,,,				2504	0.8006				p.W35S		Atlas-SNP	.											TAS2R46_ENST00000422992,NS,carcinoma,0,4	TAS2R43	19	4	0			c.G104C						PASS	.						45	39	41					12																	11244725		1858	3572	5430	SO:0001583	missense	259289	exon1			TTGAACCACTCAA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.104G>C	12.37:g.11244725C>G	ENSP00000431719:p.Trp35Ser	Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	220	201	0.913636	NM_176884	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	926	0.423992673992674	31	0.06300813008130081	161	0.4447513812154696	418	0.7307692307692307	316	0.41688654353562005	-	1.291	-0.607724	0.03717	.	.	ENSG00000255374	ENST00000531678	T	0.01113	5.32	1.97	0.939	0.19506	.	.	.	.	.	T	0.00012	0.0000	H	0.97051	3.93	0.30802	P	0.739796	.	.	.	.	.	.	T	0.26573	-1.0099	6	0.72032	D	0.01	.	5.2922	0.15733	0.3385:0.6615:0.0:0.0	.	.	.	.	S	35	ENSP00000431719:W35S	ENSP00000431719:W35S	W	-	2	0	TAS2R43	11135992	0.155000	0.22806	0.246000	0.24233	0.092000	0.18411	1.065000	0.30592	0.107000	0.17824	0.184000	0.17185	TGG	C|0.597;G|0.403	0.403	strong		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		G	11244725	C	G	11244725	3	3	22	1	0	0	0	0	1	0	0	0	15578	595	21	4	829	4	TAS2R43	12	11244725	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61017	11244725	122607170	6641	11749										
TAS2R30	259293	hgsc.bcm.edu	37	chr12	11286214	11286214	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatcctttgccatggagCtgcatcttcttgagatgttt	10	8	2	2	rs200082783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11286214C>G	ENST00000539585.1	-	1	1029	c.630G>C	c.(628-630)caG>caC	p.Q210H	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	210					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TGCCATGGAGCTGCATCTTCT	0.428																																					p.Q210H		Atlas-SNP	.											TAS2R30,NS,carcinoma,0,1	TAS2R30	28	1	0			c.G630C						scavenged	.						214	229	224					12																	11286214		2203	4300	6503	SO:0001583	missense	259293	exon1			ATGGAGCTGCATC	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.630G>C	12.37:g.11286214C>G	ENSP00000444736:p.Gln210His	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	283	25	0.0883392	NM_001097643	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	5.367	0.253041	0.10185	.	.	ENSG00000256188	ENST00000539585	T	0.00966	5.49	2.6	-0.678	0.11353	.	.	.	.	.	T	0.02012	0.0063	M	0.84846	2.72	0.09310	N	1	B	0.20887	0.049	B	0.33254	0.16	T	0.41305	-0.9516	9	0.66056	D	0.02	.	2.6486	0.04992	0.2226:0.4927:0.0:0.2847	.	210	P59541	T2R30_HUMAN	H	210	ENSP00000444736:Q210H	ENSP00000444736:Q210H	Q	-	3	2	TAS2R30	11177481	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-1.414000	0.02471	-0.324000	0.08589	-0.823000	0.03104	CAG	C|0.944;G|0.055	0.055	strong		0.428	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		G	11286214	C	G	11286214	3	3	22	1	0	0	0	0	1	0	0	0	15570	796	28	4	333	4	TAS2R30	12	11286214	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41489	11286214	122565681	6642	11750										
TAS2R30	259293	hgsc.bcm.edu	37	chr12	11286688	11286688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaaccaactctggagacCgccagagcagtgagaatttg	11	10	1	3	rs375822837		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11286688C>T	ENST00000539585.1	-	1	555	c.156G>A	c.(154-156)gcG>gcA	p.A52A	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	52					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTCTGGAGACCGCCAGAGCAG	0.388																																					p.A52A		Atlas-SNP	.											.	TAS2R30	28	.	0			c.G156A						PASS	.	C		2,4110		0,2,2054	78	79	79		156	-5.4	0	12		79	0,8504		0,0,4252	no	coding-synonymous	TAS2R30	NM_001097643.1		0,2,6306	TT,TC,CC		0.0,0.0486,0.0159		52/320	11286688	2,12614	2056	4252	6308	SO:0001819	synonymous_variant	259293	exon1			GGAGACCGCCAGA	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.156G>A	12.37:g.11286688C>T		Somatic	305	1	0.00327869		WXS	Illumina HiSeq	Phase_I	357	187	0.52381	NM_001097643	Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																			.	.	weak		0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		T	11286688	C	T	11286688	2	4	22	1	0	0	0	0	0	0	0	1	15570	639	23	1		1	TAS2R30	12	11286688	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	474	11286688	122565207	6643	11751										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506288	11506288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	19	6	0	1	rs140825288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11506288T>C	ENST00000500254.2	-	4	387	c.350A>G	c.(349-351)aAa>aGa	p.K117R	PRB1_ENST00000546254.1_Missense_Mutation_p.K117R|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.612													t|||	39	0.00778754	0.0106	0.0086	5008	,	,		16399	0.0079		0.0099	False		,,,				2504	0.001				p.K117R		Atlas-SNP	.											PRB1,NS,carcinoma,0,2	PRB1	33	2	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.A350G						scavenged	.						92	112	105					12																	11506288		2098	4245	6343	SO:0001583	missense	5542	exon4			TGAGGTTTGTTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.350A>G	12.37:g.11506288T>C	ENSP00000420826:p.Lys117Arg	Somatic	238	2	0.00840336		WXS	Illumina HiSeq	Phase_I	764	15	0.0196335	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.431560	0.01108	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.04119	3.7;3.7	1.29	-1.39	0.08997	.	.	.	.	.	T	0.03871	0.0109	L	0.39147	1.195	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.44544	-0.9321	8	.	.	.	.	5.2744	0.15641	0.0:0.2701:0.0:0.7299	.	257;117	Q86YA1;G3V1M9	.;.	R	117	ENSP00000420826:K117R;ENSP00000442127:K117R	.	K	-	2	0	PRB1	11397555	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.188000	0.17018	-0.320000	0.08640	0.113000	0.15668	AAA	.	.	weak		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506288	T	C	11506288	3	2	22	1	0	0	0	0	1	0	0	0	12442	1841	64	2	250	2	PRB1	12	11506288	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	219600	11506288	122345607	6644	11752										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506749	11506749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgggggtggtccttgtggTtttcctggaggagatcgggg	20	5	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11506749T>C	ENST00000500254.2	-	3	325	c.288A>G	c.(286-288)aaA>aaG	p.K96K	PRB1_ENST00000546254.1_Silent_p.K96K|PRB1_ENST00000545626.1_Silent_p.K96K	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	35	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)		p.K96K(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGTTTTCCTGGAG	0.607																																					p.K96K		Atlas-SNP	.											PRB1,NS,carcinoma,0,1	PRB1	33	1	1	Substitution - coding silent(1)	lung(1)	c.A288G						scavenged	.						177	223	208					12																	11506749		2161	4271	6432	SO:0001819	synonymous_variant	5542	exon3			TTGTGGTTTTCCT		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.288A>G	12.37:g.11506749T>C		Somatic	104	2	0.0192308		WXS	Illumina HiSeq	Phase_I	489	150	0.306748	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																			.	.	none		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506749	T	C	11506749	2	2	22	1	0	0	0	0	0	0	0	1	12442	1722	60	2		2	PRB1	12	11506749	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	461	11506749	122345146	6645	11753										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506774	11506774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggagatcggggacttCgggacttgtccccttgtggg	17	9	0	1	rs202083397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11506774C>T	ENST00000500254.2	-	3	300	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	PRB1_ENST00000546254.1_Missense_Mutation_p.R88Q|PRB1_ENST00000545626.1_Missense_Mutation_p.R88Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	149	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)		p.R88Q(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGGACTTCGGGACTTGTC	0.607																																					p.R88Q		Atlas-SNP	.											PRB1,NS,malignant_melanoma,0,1	PRB1	33	1	1	Substitution - Missense(1)	NS(1)	c.G263A						scavenged	.						166	204	191					12																	11506774		2162	4273	6435	SO:0001583	missense	5542	exon3			GGACTTCGGGACT		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.263G>A	12.37:g.11506774C>T	ENSP00000420826:p.Arg88Gln	Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	445	109	0.244944	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	2.983	-0.209775	0.06140	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.03745	3.87;3.82;3.82	1.32	-2.64	0.06114	.	.	.	.	.	T	0.00998	0.0033	N	0.00771	-1.2	0.09310	N	1	B;B;B	0.18968	0.032;0.032;0.032	B;B;B	0.08055	0.002;0.003;0.003	T	0.46076	-0.9217	9	0.07325	T	0.83	.	5.9689	0.19340	0.0:0.3818:0.0:0.6182	.	95;88;88	Q86YA1;G3V1R1;G3V1M9	.;.;.	Q	88	ENSP00000444249:R88Q;ENSP00000420826:R88Q;ENSP00000442127:R88Q	ENSP00000420826:R88Q	R	-	2	0	PRB1	11398041	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.491000	0.22419	-0.775000	0.04584	0.391000	0.25812	CGA	C|0.783;T|0.218	0.218	strong		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11506774	C	T	11506774	3	4	22	1	0	0	0	0	1	0	0	0	12442	884	31	1	736	1	PRB1	12	11506774	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25	11506774	122345121	6646	11754										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546395	11546395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtttgttgcctccttgtGggggtggtccttgtggcttt	16	7	0	0	rs11054277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11546395G>T	ENST00000389362.4	-	3	652	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602													g|||	257	0.0513179	0.0091	0.062	5008	,	,		19479	0.0804		0.1113	False		,,,				2504	0.0092				p.P206Q		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	lung(2)	c.C617A						scavenged	.						68	78	75					12																	11546395		2075	4125	6200	SO:0001583	missense	653247	exon3			CCTTGTGGGGGTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.617C>A	12.37:g.11546395G>T	ENSP00000374013:p.Pro206Gln	Somatic	597	4	0.00670017		WXS	Illumina HiSeq	Phase_I	434	24	0.0552995	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239350	0.39598	.	.	ENSG00000121335	ENST00000389362	T	0.04551	3.6	1.46	-2.65	0.06095	.	0.000000	0.35466	U	0.003186	T	0.04907	0.0132	L	0.33792	1.035	0.22888	N	0.998607	D	0.59357	0.985	P	0.52031	0.688	T	0.29882	-0.9997	10	0.42905	T	0.14	.	3.3379	0.07107	0.2091:0.2667:0.5243:0.0	.	206	P02812	PRB2_HUMAN	Q	206	ENSP00000374013:P206Q	ENSP00000374013:P206Q	P	-	2	0	PRB2	11437662	0.001000	0.12720	0.029000	0.17559	0.747000	0.42532	-0.415000	0.07106	-0.824000	0.04295	0.291000	0.19559	CCA	.	.	weak		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546395	G	T	11546395	3	4	22	1	0	0	0	0	1	0	0	0	12443	1348	47	4	637	4	PRB2	12	11546395	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39621	11546395	122305500	6647	11755										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546686	11546686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggagatcggggacttCgggacttgtctccttgtggg	17	8	1	1	rs76832300		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:11546686C>T	ENST00000389362.4	-	3	361	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	109	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGGACTTCGGGACTTGTC	0.602																																					p.R109Q		Atlas-SNP	.											PRB2_ENST00000389362,bladder,carcinoma,0,2	PRB2	168	2	0			c.G326A						scavenged	.						324	347	339					12																	11546686		2203	4300	6503	SO:0001583	missense	653247	exon3			GGACTTCGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.326G>A	12.37:g.11546686C>T	ENSP00000374013:p.Arg109Gln	Somatic	672	2	0.00297619		WXS	Illumina HiSeq	Phase_I	603	165	0.273632	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.127	-1.117972	0.01785	.	.	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.23	-2.46	0.06461	.	.	.	.	.	T	0.00936	0.0031	N	0.00227	-1.8	0.80722	P	0.0	B	0.23854	0.092	B	0.06405	0.002	T	0.36089	-0.9762	8	0.10902	T	0.67	.	2.7758	0.05347	0.2053:0.2954:0.0:0.4994	.	109	P02812	PRB2_HUMAN	Q	109	ENSP00000374013:R109Q	ENSP00000374013:R109Q	R	-	2	0	PRB2	11437953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.294000	0.02767	-2.070000	0.00881	-1.096000	0.02151	CGA	.	.	weak		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546686	C	T	11546686	3	4	22	1	0	0	0	0	1	0	0	0	12443	884	31	1	928	1	PRB2	12	11546686	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	291	11546686	122305209	6648	11756										
LRP6	4040	hgsc.bcm.edu	37	chr12	12336966	12336966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaccccagtggggcaagcAcactgataaaaaggcttgac	11	10	0	3	rs7978064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:12336966A>G	ENST00000261349.4	-	5	1000	c.924T>C	c.(922-924)tgT>tgC	p.C308C	LRP6_ENST00000543091.1_Silent_p.C308C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	308	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGGGGCAAGCACACTGATAAA	0.378													A|||	692	0.138179	0.3359	0.1744	5008	,	,		18561	0.0079		0.0875	False		,,,				2504	0.0317				p.C308C		Atlas-SNP	.											.	LRP6	170	.	0			c.T924C						PASS	.	A		1249,3157	427.6+/-341.6	183,883,1137	99	95	96		924	3.4	1	12	dbSNP_116	96	803,7797	188.9+/-235.7	46,711,3543	no	coding-synonymous	LRP6	NM_002336.2		229,1594,4680	GG,GA,AA		9.3372,28.3477,15.7773		308/1614	12336966	2052,10954	2203	4300	6503	SO:0001819	synonymous_variant	4040	exon5			GCAAGCACACTGA	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.924T>C	12.37:g.12336966A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	134	76	0.567164	NM_002336	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1																																																																																			A|0.850;G|0.150	0.150	strong		0.378	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			G	12336966	A	G	12336966	2	3	22	1	0	0	0	0	0	0	0	1	8962	157	6	2		2	LRP6	12	12336966	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	790280	12336966	121514929	6649	11757										
MANSC1	54682	hgsc.bcm.edu	37	chr12	12496086	12496086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgagttgaagtatataCgggctcattgcctctgattc	9	8	3	3	rs3741798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:12496086C>T	ENST00000535902.1	-	2	726	c.163G>A	c.(163-165)Gta>Ata	p.V55I	MANSC1_ENST00000396349.3_Missense_Mutation_p.V21I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	55	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.		V -> I (in dbSNP:rs3741798). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GAAGTATATACGGGCTCATTG	0.388													C|||	401	0.0800719	0.0772	0.0879	5008	,	,		21408	0.0764		0.1163	False		,,,				2504	0.045				p.V55I		Atlas-SNP	.											.	MANSC1	38	.	0			c.G163A						PASS	.	C	ILE/VAL	415,3991	203.5+/-225.9	23,369,1811	170	168	168		163	-2.2	0	12	dbSNP_107	168	993,7607	215.0+/-254.5	51,891,3358	yes	missense	MANSC1	NM_018050.2	29	74,1260,5169	TT,TC,CC		11.5465,9.419,10.8258	benign	55/432	12496086	1408,11598	2203	4300	6503	SO:0001583	missense	54682	exon2			TATATACGGGCTC	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.163G>A	12.37:g.12496086C>T	ENSP00000438205:p.Val55Ile	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	116	65	0.560345	NM_018050	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	213	0.09752747252747253	44	0.08943089430894309	35	0.09668508287292818	56	0.0979020979020979	78	0.10290237467018469	C	0.032	-1.326428	0.01309	0.09419	0.115465	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000543314	T;T;T	0.36157	1.99;1.99;1.27	5.66	-2.16	0.07080	Seven cysteines (1);Seven cysteines, N-terminal (2);	1.386070	0.05028	N	0.474172	T	0.00144	0.0004	N	0.00677	-1.265	0.58432	P	5.000000000032756E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32613	-0.9900	9	0.02654	T	1	-5.2156	10.6695	0.45749	0.0:0.4575:0.0:0.5425	rs3741798;rs17846030;rs17859014;rs52831774;rs60985477;rs3741798	21;55	Q9NW60;Q9H8J5	.;MANS1_HUMAN	I	55;21;55	ENSP00000438205:V55I;ENSP00000379638:V21I;ENSP00000437624:V55I	ENSP00000379638:V21I	V	-	1	0	MANSC1	12387353	0.016000	0.18221	0.037000	0.18230	0.332000	0.28634	-0.418000	0.07080	-0.402000	0.07633	-1.063000	0.02288	GTA	C|0.898;T|0.102	0.102	strong		0.388	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		T	12496086	C	T	12496086	3	4	22	1	0	0	0	0	1	0	0	0	9224	536	19	1	1144	1	MANSC1	12	12496086	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159120	12496086	121355809	6650	11758										
CDKN1B	1027	hgsc.bcm.edu	37	chr12	12871099	12871099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcaggagagccaggatgTcagcgggagccgcccggcgg	20	12	1	1	rs2066827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:12871099T>G	ENST00000228872.4	+	1	1042	c.326T>G	c.(325-327)gTc>gGc	p.V109G	CDKN1B_ENST00000396340.1_Missense_Mutation_p.V109G|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	109			V -> G (in dbSNP:rs2066827). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGCCAGGATGTCAGCGGGAGC	0.647													T|||	1799	0.359225	0.7837	0.2176	5008	,	,		14039	0.0556		0.2425	False		,,,				2504	0.319				p.V109G		Atlas-SNP	.											.	CDKN1B	48	.	0			c.T326G	GRCh37	CM033961	CDKN1B	M	rs2066827	PASS	.	T	GLY/VAL	3047,1349		1088,871,239	24	33	30		326	-0.9	1	12	dbSNP_94	30	2044,6552		249,1546,2503	no	missense	CDKN1B	NM_004064.3	109	1337,2417,2742	GG,GT,TT		23.7785,30.687,39.1857	benign	109/199	12871099	5091,7901	2198	4298	6496	SO:0001583	missense	1027	exon1			AGGATGTCAGCGG	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.326T>G	12.37:g.12871099T>G	ENSP00000228872:p.Val109Gly	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_004064	Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	CCDS8653.1	646	0.2957875457875458	363	0.7378048780487805	83	0.2292817679558011	23	0.04020979020979021	177	0.23350923482849603	T	12.59	1.983905	0.35036	0.69313	0.237785	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	T;T	0.59364	0.27;0.27	5.51	-0.898	0.10550	.	0.693430	0.13648	N	0.372461	T	0.00012	0.0000	L	0.43152	1.355	0.23559	P	0.9974102	B	0.20671	0.047	B	0.16722	0.016	T	0.40664	-0.9551	9	0.25751	T	0.34	-18.8666	10.916	0.47137	0.0:0.4189:0.0:0.5811	rs2066827;rs17758691;rs17844936;rs17857669;rs56657003;rs2066827	109	P46527	CDN1B_HUMAN	G	109;58;109	ENSP00000228872:V109G;ENSP00000379629:V109G	ENSP00000228872:V109G	V	+	2	0	CDKN1B	12762366	0.999000	0.42202	0.977000	0.42913	0.946000	0.59487	1.199000	0.32235	-0.156000	0.11079	0.528000	0.53228	GTC	T|0.661;G|0.339	0.339	strong		0.647	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		G	12871099	T	G	12871099	3	3	22	1	0	0	0	0	1	0	0	0	3159	1667	58	5	328	5	CDKN1B	12	12871099	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	375013	12871099	120980796	6651	11759										
DDX47	51202	hgsc.bcm.edu	37	chr12	12967127	12967127	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacaaaacccaccaagatCcagattgaagctattccttt	6	11	0	3	rs1051374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:12967127C>T	ENST00000358007.3	+	2	172	c.150C>T	c.(148-150)atC>atT	p.I50I	DDX47_ENST00000352940.4_Silent_p.I50I	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	50					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CCACCAAGATCCAGATTGAAG	0.398													C|||	1937	0.386781	0.2511	0.4121	5008	,	,		23125	0.5992		0.2734	False		,,,				2504	0.4499				p.I50I		Atlas-SNP	.											.	DDX47	37	.	0			c.C150T						PASS	.	C	,	1166,3240	412.4+/-336.1	168,830,1205	308	290	296		150,150	5.3	1	12	dbSNP_86	296	2385,6215	397.3+/-345.7	330,1725,2245	yes	coding-synonymous,coding-synonymous	DDX47	NM_016355.3,NM_201224.1	,	498,2555,3450	TT,TC,CC		27.7326,26.4639,27.3028	,	50/456,50/407	12967127	3551,9455	2203	4300	6503	SO:0001819	synonymous_variant	51202	exon2			CAAGATCCAGATT	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.150C>T	12.37:g.12967127C>T		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	202	91	0.450495	NM_201224	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Silent	SNP	ENST00000358007.3	37	CCDS8655.1																																																																																			C|0.686;T|0.314	0.314	strong		0.398	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		T	12967127	C	T	12967127	2	4	22	1	0	0	0	0	0	0	0	1	4365	845	30	2		2	DDX47	12	12967127	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96028	12967127	120884768	6652	11760										
DDX47	51202	hgsc.bcm.edu	37	chr12	12980305	12980305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagcccaaaggtttgcccGaatggtatgcatctttcttt	9	9	2	1	rs373273540		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:12980305G>A	ENST00000358007.3	+	11	1254	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	DDX47_ENST00000352940.4_Missense_Mutation_p.R362Q	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	411					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGGTTTGCCCGAATGGTATGC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21240	0.001		0.0	False		,,,				2504	0.0				p.R411Q		Atlas-SNP	.											DDX47,colon,carcinoma,+1,1	DDX47	37	1	0			c.G1232A						PASS	.						218	216	217					12																	12980305		2203	4300	6503	SO:0001583	missense	51202	exon11			TTGCCCGAATGGT	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1232G>A	12.37:g.12980305G>A	ENSP00000350698:p.Arg411Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	116	73	0.62931	NM_016355	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284152	0.40394	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.26957	2.5;1.7	5.75	3.89	0.44902	.	0.066087	0.64402	D	0.000015	T	0.17704	0.0425	L	0.28649	0.875	0.53688	D	0.999974	B;B	0.20887	0.036;0.049	B;B	0.16722	0.016;0.004	T	0.04203	-1.0969	10	0.13108	T	0.6	-5.9575	12.9654	0.58481	0.0:0.1243:0.7461:0.1296	.	362;411	G5E955;Q9H0S4	.;DDX47_HUMAN	Q	362;411	ENSP00000319578:R362Q;ENSP00000350698:R411Q	ENSP00000319578:R362Q	R	+	2	0	DDX47	12871572	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	7.657000	0.83745	0.746000	0.32786	0.655000	0.94253	CGA	.	.	weak		0.423	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		A	12980305	G	A	12980305	3	1	22	1	0	0	0	0	1	0	0	0	4365	1058	37	1	1274	1	DDX47	12	12980305	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13178	12980305	120871590	6653	11761										
GPRC5D	55507	hgsc.bcm.edu	37	chr12	13103196	13103196	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaggaagagaaatgctaaGagtagcagaattgtgaccac	12	5	0	5	rs150759739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:13103196G>A	ENST00000228887.1	-	1	122	c.123C>T	c.(121-123)ctC>ctT	p.L41L	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.L41L|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAATGCTAAGAGTAGCAGAA	0.547													G|||	16	0.00319489	0.0106	0.0014	5008	,	,		20686	0.001		0.0	False		,,,				2504	0.0				p.L41L		Atlas-SNP	.											.	GPRC5D	23	.	0			c.C123T						PASS	.	G		39,4367	44.6+/-78.6	0,39,2164	98	91	94		123	5.2	1	12	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	GPRC5D	NM_018654.1		0,39,6464	AA,AG,GG		0.0,0.8852,0.2999		41/346	13103196	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	55507	exon1			TGCTAAGAGTAGC	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.123C>T	12.37:g.13103196G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	70	48	0.685714	NM_018654	Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	CCDS8658.1																																																																																			G|0.997;A|0.003	0.003	strong		0.547	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			A	13103196	G	A	13103196	2	1	22	1	0	0	0	0	0	0	0	1	6727	929	33	2		2	GPRC5D	12	13103196	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	122891	13103196	120748699	6654	11762										
GRIN2B	2904	hgsc.bcm.edu	37	chr12	13715975	13715975	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagtaggatttgctgccAtggagcaagcactggtcgtc	13	8	0	1	rs1805247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:13715975A>G	ENST00000609686.1	-	13	4406	c.4197T>C	c.(4195-4197)caT>caC	p.H1399H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1399					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATTTGCTGCCATGGAGCAAGC	0.632													A|||	1088	0.217252	0.3805	0.1196	5008	,	,		17467	0.1835		0.0815	False		,,,				2504	0.2403				p.H1399H		Atlas-SNP	.											GRIN2B,NS,carcinoma,-2,1	GRIN2B	303	1	0			c.T4197C						PASS	.	A		1406,3000	459.6+/-352.3	225,956,1022	43	42	43		4197	-0.3	1	12	dbSNP_92	43	755,7845	181.3+/-230.0	29,697,3574	no	coding-synonymous	GRIN2B	NM_000834.3		254,1653,4596	GG,GA,AA		8.7791,31.911,16.6154		1399/1485	13715975	2161,10845	2203	4300	6503	SO:0001819	synonymous_variant	2904	exon13			GCTGCCATGGAGC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4197T>C	12.37:g.13715975A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	86	42	0.488372	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																			A|0.815;G|0.185	0.185	strong		0.632	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			G	13715975	A	G	13715975	2	3	22	1	0	0	0	0	0	0	0	1	6780	214	8	2		2	GRIN2B	12	13715975	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	612779	13715975	120135920	6655	11763										
GRIN2B	2904	hgsc.bcm.edu	37	chr12	13717508	13717508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgttgttcatggttgcGgtgggggagttcattacaga	16	4	2	1	rs1806201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:13717508G>A	ENST00000609686.1	-	13	2873	c.2664C>T	c.(2662-2664)acC>acT	p.T888T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	888				T -> P (in Ref. 5; AAA69920/AAA74930). {ECO:0000305}.	behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATGGTTGCGGTGGGGGAGT	0.572													G|||	1519	0.303315	0.0703	0.3213	5008	,	,		19555	0.5208		0.2783	False		,,,				2504	0.407				p.T888T		Atlas-SNP	.											GRIN2B,NS,carcinoma,0,2	GRIN2B	303	2	0			c.C2664T	GRCh37	CM074898	GRIN2B	M	rs1806201	PASS	.	G		476,3930	220.7+/-238.1	32,412,1759	127	114	118		2664	-10.6	0.4	12	dbSNP_92	118	2357,6243	381.0+/-339.9	345,1667,2288	no	coding-synonymous	GRIN2B	NM_000834.3		377,2079,4047	AA,AG,GG		27.407,10.8034,21.7823		888/1485	13717508	2833,10173	2203	4300	6503	SO:0001819	synonymous_variant	2904	exon13			GGTTGCGGTGGGG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2664C>T	12.37:g.13717508G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	139	52	0.374101	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																			G|0.746;A|0.254	0.254	strong		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13717508	G	A	13717508	2	1	22	1	0	0	0	0	0	0	0	1	6780	1103	39	1		1	GRIN2B	12	13717508	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1533	13717508	120134387	6656	11764										
PLBD1	79887	hgsc.bcm.edu	37	chr12	14656768	14656768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaaagttgtagacctctgGcatgccctgatgtagagttt	10	8	2	3	rs1600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:14656768G>C	ENST00000240617.5	-	11	2252	c.1600C>G	c.(1600-1602)Cca>Gca	p.P534A		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	534			P -> A (in dbSNP:rs1600). {ECO:0000269|PubMed:15489334}.		glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TAGACCTCTGGCATGCCCTGA	0.413													G|||	2572	0.513578	0.6437	0.5778	5008	,	,		16482	0.38		0.4573	False		,,,				2504	0.4877				p.P534A		Atlas-SNP	.											.	PLBD1	36	.	0			c.C1600G						PASS	.	G	ALA/PRO	2761,1645	659.2+/-400.5	865,1031,307	126	121	123		1600	5	1	12	dbSNP_36	123	4021,4579	556.1+/-386.8	934,2153,1213	yes	missense	PLBD1	NM_024829.5	27	1799,3184,1520	CC,CG,GG		46.7558,37.3355,47.8548	probably-damaging	534/554	14656768	6782,6224	2203	4300	6503	SO:0001583	missense	79887	exon11			CCTCTGGCATGCC	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1600C>G	12.37:g.14656768G>C	ENSP00000240617:p.Pro534Ala	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	186	185	0.994624	NM_024829	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	CCDS31751.1	1077	0.49313186813186816	318	0.6463414634146342	192	0.5303867403314917	216	0.3776223776223776	351	0.4630606860158311	G	24.1	4.492333	0.84962	0.626645	0.467558	ENSG00000121316	ENST00000240617	T	0.24350	1.86	5.86	4.97	0.65823	.	0.049601	0.85682	N	0.000000	T	0.00012	0.0000	M	0.94021	3.485	0.09310	P	0.99999827061	D	0.89917	1.0	D	0.83275	0.996	T	0.46233	-0.9206	9	0.72032	D	0.01	-14.3777	15.8105	0.78561	0.0:0.1351:0.8649:0.0	rs1600;rs3168592;rs3789995;rs17844869;rs17855851;rs17857584;rs1600	534	Q6P4A8	PLBL1_HUMAN	A	534	ENSP00000240617:P534A	ENSP00000240617:P534A	P	-	1	0	PLBD1	14548035	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.434000	0.97515	1.613000	0.50231	-0.172000	0.13284	CCA	G|0.490;C|0.510	0.510	strong		0.413	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		C	14656768	G	C	14656768	3	2	22	1	0	0	0	0	1	0	0	0	12025	1203	42	4	65	4	PLBD1	12	14656768	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	939260	14656768	119195127	6657	11765										
MGP	4256	hgsc.bcm.edu	37	chr12	15038703	15038703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctaaggcggccaggatgGcaagaaggatcaggctcttc	14	11	2	1	rs142330429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15038703G>A	ENST00000539261.1	-	1	157	c.23C>T	c.(22-24)gCc>gTc	p.A8V	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.A8V	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	8					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GGCCAGGATGGCAAGAAGGAT	0.488													G|||	77	0.0153754	0.0	0.0	5008	,	,		18540	0.0308		0.004	False		,,,				2504	0.0429				p.A8V		Atlas-SNP	.											.	MGP	16	.	0			c.C23T						PASS	.	G	VAL/ALA,VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	145	117	126		23,23	5.2	0.3	12	dbSNP_134	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MGP	NM_000900.3,NM_001190839.1	64,64	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	benign,benign	8/104,8/129	15038703	5,13001	2203	4300	6503	SO:0001583	missense	4256	exon1			AGGATGGCAAGAA	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.23C>T	12.37:g.15038703G>A	ENSP00000445907:p.Ala8Val	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_000900	A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	CCDS8669.1	19	0.0086996336996337	0	0.0	0	0.0	16	0.027972027972027972	3	0.00395778364116095	G	0.375	-0.932067	0.02359	6.81E-4	2.33E-4	ENSG00000111341	ENST00000539261;ENST00000228938	T;T	0.36340	1.63;1.26	5.22	5.22	0.72569	.	0.572076	0.17597	N	0.168558	T	0.08492	0.0211	N	0.10874	0.06	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.10894	-1.0610	10	0.66056	D	0.02	0.4235	14.1517	0.65389	0.0:0.0:1.0:0.0	.	8	P08493	MGP_HUMAN	V	8	ENSP00000445907:A8V;ENSP00000228938:A8V	ENSP00000228938:A8V	A	-	2	0	MGP	14929970	0.421000	0.25465	0.332000	0.25469	0.140000	0.21249	3.653000	0.54446	2.721000	0.93114	0.655000	0.94253	GCC	G|0.994;A|0.006	0.006	strong		0.488	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		A	15038703	G	A	15038703	3	1	22	1	0	0	0	0	1	0	0	0	9558	1203	42	2	304	2	MGP	12	15038703	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	381935	15038703	118813192	6658	11766										
ERP27	121506	hgsc.bcm.edu	37	chr12	15070169	15070169	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatgttctcttcatactcTggggaggccttgttcattat	9	9	4	0	rs35203261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15070169T>A	ENST00000266397.2	-	5	1092	c.519A>T	c.(517-519)ccA>ccT	p.P173P	ERP27_ENST00000540097.1_Silent_p.P72P|ERP27_ENST00000544881.1_5'UTR	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	173						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CTTCATACTCTGGGGAGGCCT	0.458													T|||	123	0.0245607	0.09	0.0043	5008	,	,		20881	0.0		0.0	False		,,,				2504	0.001				p.P173P		Atlas-SNP	.											.	ERP27	37	.	0			c.A519T						PASS	.	T		319,4087	170.5+/-200.9	8,303,1892	216	184	195		519	0.8	1	12	dbSNP_126	195	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ERP27	NM_152321.2		8,307,6188	AA,AT,TT		0.0465,7.2401,2.4835		173/274	15070169	323,12683	2203	4300	6503	SO:0001819	synonymous_variant	121506	exon5			ATACTCTGGGGAG	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.519A>T	12.37:g.15070169T>A		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	229	102	0.445415	NM_152321		Silent	SNP	ENST00000266397.2	37	CCDS8670.1																																																																																			T|0.980;A|0.020	0.020	strong		0.458	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		A	15070169	T	A	15070169	2	1	22	1	0	0	0	0	0	0	0	1	5241	1567	55	5		5	ERP27	12	15070169	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31466	15070169	118781726	6659	11767										
ERP27	121506	hgsc.bcm.edu	37	chr12	15070187	15070187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggggaggccttgttcatTatcaggaggagatgaatctg	14	6	4	2	rs79989395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15070187T>C	ENST00000266397.2	-	5	1074	c.501A>G	c.(499-501)atA>atG	p.I167M	ERP27_ENST00000540097.1_Missense_Mutation_p.I66M|ERP27_ENST00000544881.1_5'UTR	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	167						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CCTTGTTCATTATCAGGAGGA	0.448													T|||	84	0.0167732	0.0	0.0	5008	,	,		21252	0.0446		0.0119	False		,,,				2504	0.0276				p.I167M		Atlas-SNP	.											.	ERP27	37	.	0			c.A501G						PASS	.	T	MET/ILE	2,4404	4.2+/-10.8	0,2,2201	215	187	196		501	-6.1	0.3	12	dbSNP_131	196	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ERP27	NM_152321.2	10	0,7,6496	CC,CT,TT		0.0581,0.0454,0.0538	benign	167/274	15070187	7,12999	2203	4300	6503	SO:0001583	missense	121506	exon5			GTTCATTATCAGG	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.501A>G	12.37:g.15070187T>C	ENSP00000266397:p.Ile167Met	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	224	120	0.535714	NM_152321		Missense_Mutation	SNP	ENST00000266397.2	37	CCDS8670.1	33	0.01510989010989011	0	0.0	0	0.0	21	0.03671328671328671	12	0.0158311345646438	T	9.988	1.229927	0.22542	4.54E-4	5.81E-4	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.33654	1.4;1.4	5.36	-6.13	0.02118	Thioredoxin-like fold (1);	0.598338	0.18680	N	0.134197	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.16289	0.015	T	0.05209	-1.0899	10	0.51188	T	0.08	-5.0132	1.6157	0.02703	0.2276:0.2012:0.1121:0.4592	.	167	Q96DN0	ERP27_HUMAN	M	167;66	ENSP00000266397:I167M;ENSP00000440573:I66M	ENSP00000266397:I167M	I	-	3	3	ERP27	14961454	0.046000	0.20272	0.291000	0.24904	0.964000	0.63967	-1.746000	0.01829	-0.977000	0.03537	-0.462000	0.05337	ATA	T|0.995;C|0.005	0.005	strong		0.448	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		C	15070187	T	C	15070187	3	2	22	1	0	0	0	0	1	0	0	0	5241	1744	61	2	332	2	ERP27	12	15070187	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18	15070187	118781708	6660	11768										
ARHGDIB	397	hgsc.bcm.edu	37	chr12	15095558	15095558	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttgtggtacgtgcctcgCgccagcatgcccttgggagc	14	12	0	0	rs4703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15095558C>G	ENST00000228945.4	-	6	648	c.504G>C	c.(502-504)gcG>gcC	p.A168A	ARHGDIB_ENST00000541546.1_Silent_p.A168A|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.A168A	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	168					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|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)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						ACGTGCCTCGCGCCAGCATGC	0.527													G|||	2413	0.481829	0.4062	0.5418	5008	,	,		18515	0.5714		0.5606	False		,,,				2504	0.3681				p.A168A		Atlas-SNP	.											.	ARHGDIB	33	.	0			c.G504C						PASS	.	G		1872,2534	632.7+/-395.9	399,1074,730	214	160	178		504	0.4	1	12	dbSNP_52	178	4558,4042	556.9+/-387.0	1223,2112,965	no	coding-synonymous	ARHGDIB	NM_001175.4		1622,3186,1695	GG,GC,CC		47.0,42.4875,49.4387		168/202	15095558	6430,6576	2203	4300	6503	SO:0001819	synonymous_variant	397	exon6			GCCTCGCGCCAGC	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"Endogenous ligands"	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.504G>C	12.37:g.15095558C>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	42	0.538462	NM_001175	B5BU79	Silent	SNP	ENST00000228945.4	37	CCDS8671.1	1144	0.5238095238095238	185	0.37601626016260165	198	0.5469613259668509	323	0.5646853146853147	438	0.5778364116094987	G	10.09	1.255670	0.22965	0.424875	0.53	ENSG00000111348	ENST00000536592	.	.	.	4.41	0.426	0.16479	.	0.126644	0.52532	D	0.000079	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.43015	-0.9417	5	0.87932	D	0	-13.7797	2.097	0.03670	0.249:0.1353:0.4772:0.1386	rs4703;rs3180518;rs17850457;rs4703	.	.	.	P	162	.	ENSP00000445185:A162P	A	-	1	0	ARHGDIB	14986825	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	1.293000	0.33353	-0.017000	0.14103	-0.126000	0.14955	GCG	C|0.500;G|0.500	0.500	strong		0.527	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		G	15095558	C	G	15095558	2	3	22	1	0	0	0	0	0	0	0	1	891	755	27	4		4	ARHGDIB	12	15095558	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25371	15095558	118756337	6661	11769										
PDE6H	5149	hgsc.bcm.edu	37	chr12	15134337	15134337	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttccatctcttgcagataTcacagtgatttgtccatggg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15134337delT	ENST00000266395.2	+	4	285	c.179delT	c.(178-180)atcfs	p.I60fs		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	60					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	CTTGCAGATATCACAGTGATT	0.498																																					p.I60fs		Pindel,Atlas-Indel	.											.	PDE6H	13	.	0			c.178delA						PASS	.						180	154	163					12																	15134337		2203	4300	6503	SO:0001589	frameshift_variant	5149	exon4			.		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"Phosphodiesterases"	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.179delT	12.37:g.15134337delT	ENSP00000266395:p.Ile60fs	Somatic	110	.	.		WXS	Illumina HiSeq	Phase_I	106	33	0.311	NM_006205	Q52LY7	Frame_Shift_Del	DEL	ENST00000266395.2	37	CCDS8672.1																																																																																			.	.	none		0.498	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1			-	15134337	T	-	15134337	7	5	22	1	0	1	0	1	0	0	0	0	11650	1435	50	0	189	0	PDE6H	12	15134337	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	38779	15134337	118717558	6662	11770										
EPS8	2059	hgsc.bcm.edu	37	chr12	15776095	15776095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgacaagtcatacctcCaatgcagctttttgtacagt	8	9	1	1	rs1126786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:15776095C>T	ENST00000281172.5	-	20	2788	c.2352G>A	c.(2350-2352)ttG>ttA	p.L784L	EPS8_ENST00000542903.1_Silent_p.L524L|EPS8_ENST00000540613.1_Silent_p.L524L|EPS8_ENST00000543523.1_Silent_p.L784L|EPS8_ENST00000543612.1_Silent_p.L784L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	784	Effector region. {ECO:0000250}.|Helix bundle 4. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTCATACCTCCAATGCAGCTT	0.418													T|||	882	0.176118	0.5507	0.0562	5008	,	,		17316	0.0536		0.0209	False		,,,				2504	0.0409				p.L784L		Atlas-SNP	.											.	EPS8	70	.	0			c.G2352A						PASS	.	T		2128,2278	599.1+/-389.2	529,1070,604	131	135	133		2352	-0.9	0.7	12	dbSNP_86	133	204,8396	810.5+/-407.1	2,200,4098	no	coding-synonymous	EPS8	NM_004447.5		531,1270,4702	TT,TC,CC		2.3721,48.2978,17.9302		784/823	15776095	2332,10674	2203	4300	6503	SO:0001819	synonymous_variant	2059	exon20			TACCTCCAATGCA	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2352G>A	12.37:g.15776095C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	158	76	0.481013	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	CCDS31753.1																																																																																			T|0.130;G|0.153;C|0.674;A|0.042	0.130	strong		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			T	15776095	C	T	15776095	2	4	22	1	0	0	0	0	0	0	0	1	5194	593	21	2		2	EPS8	12	15776095	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	641758	15776095	118075800	6663	11771										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18473928	18473928	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtcagttttatctgaaTcaacttctagaatttatgca					rs12309666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18473928T>C	ENST00000266497.5	+	6	1208	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N	PIK3C2G_ENST00000535651.1_Silent_p.N390N|PIK3C2G_ENST00000433979.1_Silent_p.N390N|PIK3C2G_ENST00000538779.1_Silent_p.N390N|RERGL_ENST00000541632.1_5'Flank			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	390					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.N390N(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTATCTGAATCAACTTCTAG	0.318													C|||	1121	0.223842	0.4145	0.2233	5008	,	,		16827	0.2312		0.1083	False		,,,				2504	0.0777				p.N390N		Atlas-SNP	.											PIK3C2G,NS,carcinoma,0,1	PIK3C2G	315	1	1	Substitution - coding silent(1)	stomach(1)	c.T1170C						PASS	.	C		1472,2130		299,874,628	52	51	51		1170	1.7	1	12	dbSNP_120	51	688,7436		22,644,3396	no	coding-synonymous	PIK3C2G	NM_004570.4		321,1518,4024	CC,CT,TT		8.4687,40.8662,18.4206		390/1446	18473928	2160,9566	1801	4062	5863	SO:0001819	synonymous_variant	5288	exon7			TCTGAATCAACTT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1170T>C	12.37:g.18473928T>C		Somatic	274	1	0.00364964		WXS	Illumina HiSeq	Phase_I	245	244	0.995918	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			T|0.786;C|0.214	0.214	strong		0.318	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18473928	T	C	18473928	2	2	22	1	0	0	0	0	0	0	0	1	11911	1432	50	2		2	PIK3C2G	12	18473928	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2697833	18473928	115377967	6664	11772	242	2								
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18473933	18473933	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagttttatctgaatcaacTtctagaatttatgcatattt					rs201637656		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18473933T>G	ENST00000266497.5	+	6	1213	c.1175T>G	c.(1174-1176)cTt>cGt	p.L392R	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.L392R|RERGL_ENST00000541632.1_5'Flank|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.L392R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.L392R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	392					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGAATCAACTTCTAGAATTT	0.303																																					p.L392R		Atlas-SNP	.											PIK3C2G_ENST00000433979,NS,carcinoma,+1,2	PIK3C2G	315	2	0			c.T1175G						PASS	.	T	ARG/LEU	3,3597		0,3,1797	50	49	49		1175	4.6	1	12		49	0,8118		0,0,4059	yes	missense	PIK3C2G	NM_004570.4	102	0,3,5856	GG,GT,TT		0.0,0.0833,0.0256	probably-damaging	392/1446	18473933	3,11715	1800	4059	5859	SO:0001583	missense	5288	exon7			ATCAACTTCTAGA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1175T>G	12.37:g.18473933T>G	ENSP00000266497:p.Leu392Arg	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	256	121	0.472656	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216850	0.58452	8.33E-4	0.0	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.65916	1.12;-0.18;-0.18;-0.08	4.57	4.57	0.56435	.	0.000000	0.52532	D	0.000071	T	0.72787	0.3504	M	0.63843	1.955	0.42403	D	0.992574	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.957;0.972;0.938	T	0.72516	-0.4269	10	0.40728	T	0.16	-22.2094	10.628	0.45519	0.0:0.0:0.0:1.0	.	391;392;392	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	R	392	ENSP00000443850:L392R;ENSP00000404845:L392R;ENSP00000266497:L392R;ENSP00000445381:L392R	ENSP00000266497:L392R	L	+	2	0	PIK3C2G	18365200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.773000	0.55333	2.281000	0.76405	0.528000	0.53228	CTT	.	.	weak		0.303	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18473933	T	G	18473933	3	3	22	1	0	0	0	0	1	0	0	0	11911	1609	56	5	1197	5	PIK3C2G	12	18473933	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	18473933	115377962	6665	11773	242	2								
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18499629	18499629	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccatctaccagctaatcaAtgtctactgtaacagctttt	4	11	3	0	rs77656456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18499629A>T	ENST00000266497.5	+	10	1522	c.1484A>T	c.(1483-1485)aAt>aTt	p.N495I	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N495I|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N495I|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N495I			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	495	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCTAATCAATGTCTACTGT	0.418													A|||	9	0.00179712	0.0061	0.0014	5008	,	,		17734	0.0		0.0	False		,,,				2504	0.0				p.N495I		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.A1484T						PASS	.	A	ILE/ASN	17,3835		0,17,1909	183	183	183		1484	1.6	0	12	dbSNP_131	183	0,8256		0,0,4128	yes	missense	PIK3C2G	NM_004570.4	149	0,17,6037	TT,TA,AA		0.0,0.4413,0.1404	benign	495/1446	18499629	17,12091	1926	4128	6054	SO:0001583	missense	5288	exon11			TAATCAATGTCTA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1484A>T	12.37:g.18499629A>T	ENSP00000266497:p.Asn495Ile	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	10.11	1.260049	0.23051	0.004413	0.0	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.60797	1.49;0.17;0.17;0.16	3.98	1.61	0.23674	Phosphoinositide 3-kinase, C2 (1);	1.592470	0.03319	N	0.191731	T	0.30727	0.0774	N	0.08118	0	0.09310	N	1	B;B;B	0.30281	0.04;0.066;0.275	B;B;B	0.28232	0.033;0.073;0.087	T	0.35871	-0.9771	10	0.66056	D	0.02	-1.4578	6.9084	0.24321	0.6849:0.0:0.3151:0.0	.	494;495;495	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	I	495	ENSP00000443850:N495I;ENSP00000404845:N495I;ENSP00000266497:N495I;ENSP00000445381:N495I	ENSP00000266497:N495I	N	+	2	0	PIK3C2G	18390896	0.000000	0.05858	0.019000	0.16419	0.908000	0.53690	0.199000	0.17237	0.344000	0.23847	0.454000	0.30748	AAT	A|0.998;T|0.002	0.002	strong		0.418	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18499629	A	T	18499629	3	4	22	1	0	0	0	0	1	0	0	0	11911	101	4	5	1522	5	PIK3C2G	12	18499629	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25696	18499629	115352266	6666	11774										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18649057	18649057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactttcatcaatgctaatcCgatgggcaaaaacatcagca	6	10	3	0	rs12312266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18649057C>T	ENST00000266497.5	+	19	2770	c.2732C>T	c.(2731-2733)cCg>cTg	p.P911L	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P911L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P952L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	911			P -> L (in dbSNP:rs12312266). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9878262, ECO:0000269|Ref.3}.		chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATGCTAATCCGATGGGCAAA	0.323													C|||	1875	0.374401	0.5008	0.366	5008	,	,		18017	0.3046		0.2425	False		,,,				2504	0.4172				p.P911L		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.C2732T						PASS	.	C	LEU/PRO	1621,2027		369,883,572	103	89	94		2732	4.4	1	12	dbSNP_120	94	1837,6305		236,1365,2470	yes	missense	PIK3C2G	NM_004570.4	98	605,2248,3042	TT,TC,CC		22.562,44.4353,29.3299	probably-damaging	911/1446	18649057	3458,8332	1824	4071	5895	SO:0001583	missense	5288	exon20			CTAATCCGATGGG	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2732C>T	12.37:g.18649057C>T	ENSP00000266497:p.Pro911Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	103	52	0.504854	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	703	0.3218864468864469	218	0.44308943089430897	129	0.356353591160221	178	0.3111888111888112	178	0.23482849604221637	C	24.1	4.498890	0.85069	0.444353	0.22562	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.81908	-1.55;-1.55;-1.55	4.37	4.37	0.52481	Protein kinase-like domain (1);	0.071120	0.56097	D	0.000035	T	0.00012	0.0000	M	0.78456	2.415	0.09310	P	0.99999999684936	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.94	T	0.00768	-1.1574	9	0.59425	D	0.04	-16.2062	16.7234	0.85416	0.0:1.0:0.0:0.0	rs12312266;rs17847799;rs52825188;rs58825824;rs12312266	952;911	F5H369;O75747	.;P3C2G_HUMAN	L	911;911;952	ENSP00000404845:P911L;ENSP00000266497:P911L;ENSP00000445381:P952L	ENSP00000266497:P911L	P	+	2	0	PIK3C2G	18540324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.384000	0.66225	2.724000	0.93272	0.650000	0.86243	CCG	C|0.665;N|0.000	.	strong		0.323	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18649057	C	T	18649057	3	4	22	1	0	0	0	0	1	0	0	0	11911	652	23	1	2806	1	PIK3C2G	12	18649057	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	149428	18649057	115202838	6667	11775										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18656225	18656225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctaccaggattggtgcaGatggtacctgatgctgtgac	12	9	1	3	rs11044142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18656225G>A	ENST00000266497.5	+	21	2942	c.2904G>A	c.(2902-2904)caG>caA	p.Q968Q	PIK3C2G_ENST00000433979.1_Silent_p.Q968Q|PIK3C2G_ENST00000538779.1_Silent_p.Q1009Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	968	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATTGGTGCAGATGGTACCTG	0.403													G|||	804	0.160543	0.3744	0.1254	5008	,	,		16910	0.0		0.1789	False		,,,				2504	0.0429				p.Q968Q		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.G2904A						PASS	.	G		1162,2554		193,776,889	92	88	89		2904	3	1	12	dbSNP_120	89	1401,6805		115,1171,2817	no	coding-synonymous	PIK3C2G	NM_004570.4		308,1947,3706	AA,AG,GG		17.0729,31.2702,21.4981		968/1446	18656225	2563,9359	1858	4103	5961	SO:0001819	synonymous_variant	5288	exon22			GGTGCAGATGGTA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2904G>A	12.37:g.18656225G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	131	57	0.435115	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			G|0.842;A|0.158	0.158	strong		0.403	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18656225	G	A	18656225	2	1	22	1	0	0	0	0	0	0	0	1	11911	933	33	2		2	PIK3C2G	12	18656225	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7168	18656225	115195670	6668	11776										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18715673	18715673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagtgtttccctgttaaAttgaataacttgatccacac	7	9	0	2	rs11044184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:18715673A>G	ENST00000266497.5	+	25	3542	c.3504A>G	c.(3502-3504)aaA>aaG	p.K1168K	PIK3C2G_ENST00000433979.1_Silent_p.K1168K|PIK3C2G_ENST00000538779.1_Silent_p.K1209K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1168	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCCTGTTAAATTGAATAACT	0.383													A|||	273	0.0545128	0.1989	0.0144	5008	,	,		17230	0.0		0.0	False		,,,				2504	0.0				p.K1168K		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.A3504G						PASS	.	A		672,3034		63,546,1244	68	64	65		3504	-0.7	1	12	dbSNP_120	65	5,8185		0,5,4090	no	coding-synonymous	PIK3C2G	NM_004570.4		63,551,5334	GG,GA,AA		0.0611,18.1328,5.691		1168/1446	18715673	677,11219	1853	4095	5948	SO:0001819	synonymous_variant	5288	exon26			TGTTAAATTGAAT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3504A>G	12.37:g.18715673A>G		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			A|0.941;G|0.059	0.059	strong		0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18715673	A	G	18715673	2	3	22	1	0	0	0	0	0	0	0	1	11911	98	4	2		2	PIK3C2G	12	18715673	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59448	18715673	115136222	6669	11777										
PLEKHA5	54477	hgsc.bcm.edu	37	chr12	19440471	19440471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacagtctgttagtccccAgagcctccaagggaaaacgg	10	11	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:19440471A>G	ENST00000299275.6	+	12	1832	c.1826A>G	c.(1825-1827)cAg>cGg	p.Q609R	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Q609R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q609R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q367R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q609R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q501R|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q615R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q609R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q501R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q609R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	609					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|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)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTTAGTCCCCAGAGCCTCCAA	0.403																																					p.Q615R	Pancreas(196;329 2193 11246 14234 19524)	Atlas-SNP	.											.	PLEKHA5	198	.	0			c.A1844G						PASS	.						105	104	105					12																	19440471		2203	4300	6503	SO:0001583	missense	54477	exon13			GTCCCCAGAGCCT	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1826A>G	12.37:g.19440471A>G	ENSP00000299275:p.Gln609Arg	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	160	83	0.51875	NM_001256470	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668063	0.67814	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.35048	2.5;1.33;2.5;2.5;1.33;2.5;2.5;1.33;1.57;1.57;2.5	5.86	4.73	0.59995	.	0.115083	0.64402	D	0.000011	T	0.52757	0.1754	M	0.70595	2.14	0.39754	D	0.971935	D;D;D;P;D;D;D	0.76494	0.988;0.999;0.998;0.584;0.995;0.986;0.999	P;D;D;B;D;P;D	0.85130	0.883;0.997;0.993;0.445;0.978;0.835;0.997	T	0.52571	-0.8558	10	0.10111	T	0.7	-14.8584	11.3548	0.49609	0.9297:0.0:0.0703:0.0	.	609;501;501;615;615;609;609	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	R	609;609;609;616;609;615;609;367;609;501;501;501	ENSP00000325155:Q609R;ENSP00000347560:Q609R;ENSP00000352104:Q609R;ENSP00000311239:Q609R;ENSP00000404296:Q615R;ENSP00000299275:Q609R;ENSP00000440611:Q367R;ENSP00000439673:Q609R;ENSP00000400411:Q501R;ENSP00000439837:Q501R;ENSP00000440371:Q501R	ENSP00000299275:Q609R	Q	+	2	0	PLEKHA5	19331738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.067000	0.71193	2.241000	0.73720	0.482000	0.46254	CAG	.	.	none		0.403	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		G	19440471	A	G	19440471	3	3	22	1	0	0	0	0	1	0	0	0	12059	188	7	3	1872	3	PLEKHA5	12	19440471	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	724798	19440471	114411424	6670	11778										
PDE3A	5139	hgsc.bcm.edu	37	chr12	20522487	20522487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtcggctgtgacctggAgcagtgtaaggaggcggcgg	21	7	0	1	rs372953537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:20522487A>G	ENST00000359062.3	+	1	309	c.269A>G	c.(268-270)gAg>gGg	p.E90G	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	90					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGTGACCTGGAGCAGTGTAAG	0.716													A|||	5	0.000998403	0.0038	0.0	5008	,	,		11878	0.0		0.0	False		,,,				2504	0.0				p.E90G		Atlas-SNP	.											.	PDE3A	184	.	0			c.A269G						PASS	.	A	GLY/GLU	6,4166		0,6,2080	5	5	5		269	0	0.5	12		5	0,8264		0,0,4132	no	missense	PDE3A	NM_000921.4	98	0,6,6212	GG,GA,AA		0.0,0.1438,0.0482	possibly-damaging	90/1142	20522487	6,12430	2086	4132	6218	SO:0001583	missense	5139	exon1			ACCTGGAGCAGTG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.269A>G	12.37:g.20522487A>G	ENSP00000351957:p.Glu90Gly	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182736	0.57800	0.001438	0.0	ENSG00000172572	ENST00000359062	T	0.64260	-0.09	5.03	-0.0284	0.13922	.	4.081800	0.00633	N	0.000487	T	0.46639	0.1403	N	0.19112	0.55	0.25845	N	0.984007	B	0.02656	0.0	B	0.01281	0.0	T	0.35871	-0.9771	10	0.59425	D	0.04	.	3.9386	0.09316	0.5223:0.1842:0.2935:0.0	.	90	Q14432	PDE3A_HUMAN	G	90	ENSP00000351957:E90G	ENSP00000351957:E90G	E	+	2	0	PDE3A	20413754	0.929000	0.31497	0.519000	0.27824	0.703000	0.40648	0.632000	0.24583	-0.019000	0.14055	0.449000	0.29647	GAG	.	.	weak		0.716	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			G	20522487	A	G	20522487	3	3	22	1	0	0	0	0	1	0	0	0	11637	304	11	3	271	3	PDE3A	12	20522487	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1082016	20522487	113329408	6671	11779										
SLCO1C1	53919	hgsc.bcm.edu	37	chr12	20864356	20864356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattctccttcctccaattcCactctcagcatctctccgtg	3	17	3	0	rs7963279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:20864356C>T	ENST00000266509.2	+	5	809	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SLCO1C1_ENST00000381552.1_Silent_p.S147S|SLCO1C1_ENST00000540354.1_Silent_p.S147S|SLCO1C1_ENST00000545102.1_Silent_p.S29S|SLCO1C1_ENST00000545604.1_Silent_p.S147S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	147					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCTCCAATTCCACTCTCAGCA	0.348													T|||	1210	0.241613	0.2799	0.2579	5008	,	,		19304	0.0516		0.3062	False		,,,				2504	0.3078				p.S147S		Atlas-SNP	.											.	SLCO1C1	216	.	0			c.C441T						PASS	.	T	,,,	1275,3131	701.1+/-406.7	186,903,1114	141	135	137		87,441,441,441	-3.3	0.3	12	dbSNP_116	137	2768,5832	679.2+/-403.5	438,1892,1970	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	624,2795,3084	TT,TC,CC		32.186,28.9378,31.0857	,,,	29/613,147/664,147/731,147/713	20864356	4043,8963	2203	4300	6503	SO:0001819	synonymous_variant	53919	exon5			CAATTCCACTCTC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.441C>T	12.37:g.20864356C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	126	62	0.492063	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	CCDS8683.1																																																																																			C|0.727;T|0.273	0.273	strong		0.348	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20864356	C	T	20864356	2	4	22	1	0	0	0	0	0	0	0	1	14725	581	21	2		2	SLCO1C1	12	20864356	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	341869	20864356	112987539	6672	11780										
SLCO1B1	10599	hgsc.bcm.edu	37	chr12	21358933	21358933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctcaccctgtctagcagGttgcaaatcttcaagtggca	8	12	4	0	rs59502379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:21358933G>C	ENST00000256958.2	+	11	1559	c.1463G>C	c.(1462-1464)gGt>gCt	p.G488A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	488	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.		G -> A (in dbSNP:rs59502379). {ECO:0000269|PubMed:11477075}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGTCTAGCAGGTTGCAAATCT	0.363													G|||	56	0.0111821	0.0408	0.0029	5008	,	,		17184	0.0		0.0	False		,,,				2504	0.0				p.G488A		Atlas-SNP	.											.	SLCO1B1	151	.	0			c.G1463C	GRCh37	CM016147	SLCO1B1	M	rs59502379	PASS	.	G	ALA/GLY	155,4251	104.3+/-142.8	3,149,2051	127	125	126		1463	4.1	1	12	dbSNP_129	126	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLCO1B1	NM_006446.4	60	3,150,6349	CC,CG,GG		0.0116,3.5179,1.1996	probably-damaging	488/692	21358933	156,12848	2203	4299	6502	SO:0001583	missense	10599	exon11			TAGCAGGTTGCAA		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1463G>C	12.37:g.21358933G>C	ENSP00000256958:p.Gly488Ala	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	150	55	0.366667	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	G	14.57	2.574305	0.45902	0.035179	1.16E-4	ENSG00000134538	ENST00000256958	T	0.04862	3.54	4.06	4.06	0.47325	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	H	0.96805	3.885	0.48632	D	0.999686	D	0.89917	1.0	D	0.97110	1.0	T	0.44421	-0.9329	10	0.87932	D	0	.	13.1306	0.59380	0.0:0.0:1.0:0.0	rs59502379	488	Q9Y6L6	SO1B1_HUMAN	A	488	ENSP00000256958:G488A	ENSP00000256958:G488A	G	+	2	0	SLCO1B1	21250200	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	7.474000	0.81024	1.783000	0.52377	0.484000	0.47621	GGT	G|0.988;C|0.012	0.012	strong		0.363	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		C	21358933	G	C	21358933	3	2	22	1	0	0	0	0	1	0	0	0	14723	1261	44	4	1501	4	SLCO1B1	12	21358933	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	494577	21358933	112492962	6673	11781										
RECQL	5965	hgsc.bcm.edu	37	chr12	21623179	21623179	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtattcttagaaccagaTtgctgaagcatgtttgcagc	9	9	1	3	rs17849408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:21623179T>C	ENST00000444129.2	-	15	2367	c.1899A>G	c.(1897-1899)caA>caG	p.Q633Q	PYROXD1_ENST00000240651.9_3'UTR|RECQL_ENST00000421138.2_Silent_p.Q633Q|PYROXD1_ENST00000538582.1_3'UTR	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	633					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TAGAACCAGATTGCTGAAGCA	0.343								Other identified genes with known or suspected DNA repair function					T|||	755	0.150759	0.1483	0.1066	5008	,	,		14793	0.2917		0.0895	False		,,,				2504	0.1033				p.Q633Q		Atlas-SNP	.											.	RECQL	45	.	0			c.A1899G						PASS	.	T	,,	365,4037	173.0+/-202.9	28,309,1864	60	62	61		1899,,1899	-1.3	0.2	12	dbSNP_129	61	604,7978	154.8+/-208.9	25,554,3712	no	coding-synonymous,utr-3,coding-synonymous	RECQL,PYROXD1	NM_002907.3,NM_024854.3,NM_032941.2	,,	53,863,5576	CC,CT,TT		7.038,8.2917,7.463	,,	633/650,,633/650	21623179	969,12015	2201	4291	6492	SO:0001819	synonymous_variant	5965	exon16			ACCAGATTGCTGA	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1899A>G	12.37:g.21623179T>C		Somatic	803	0	0		WXS	Illumina HiSeq	Phase_I	784	357	0.455357	NM_032941	A8K6G2	Silent	SNP	ENST00000444129.2	37	CCDS31756.1																																																																																			T|0.893;C|0.107	0.107	strong		0.343	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		C	21623179	T	C	21623179	2	2	22	1	0	0	0	0	0	0	0	1	13201	1490	52	2		2	RECQL	12	21623179	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	264246	21623179	112228716	6674	11782										
RECQL	5965	hgsc.bcm.edu	37	chr12	21623969	21623969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcctcattgttcagaagAttagctttaggtcctatttt	8	7	2	2	rs6500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:21623969A>G	ENST00000444129.2	-	14	2199	c.1731T>C	c.(1729-1731)aaT>aaC	p.N577N	RECQL_ENST00000421138.2_Silent_p.N577N	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	577					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTTCAGAAGATTAGCTTTAG	0.343								Other identified genes with known or suspected DNA repair function					A|||	758	0.151358	0.1483	0.1066	5008	,	,		14694	0.2946		0.0895	False		,,,				2504	0.1033				p.N577N		Atlas-SNP	.											.	RECQL	45	.	0			c.T1731C						PASS	.	A	,,	498,3908	230.7+/-244.8	31,436,1736	74	67	69		1731,,1731	3.3	0.9	12	dbSNP_52	69	789,7809	184.9+/-232.8	34,721,3544	no	coding-synonymous,utr-3,coding-synonymous	RECQL,PYROXD1	NM_002907.3,NM_024854.3,NM_032941.2	,,	65,1157,5280	GG,GA,AA		9.1766,11.3028,9.897	,,	577/650,,577/650	21623969	1287,11717	2203	4299	6502	SO:0001819	synonymous_variant	5965	exon15			CAGAAGATTAGCT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1731T>C	12.37:g.21623969A>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	143	66	0.461538	NM_032941	A8K6G2	Silent	SNP	ENST00000444129.2	37	CCDS31756.1																																																																																			A|0.888;G|0.112	0.112	strong		0.343	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		G	21623969	A	G	21623969	2	3	22	1	0	0	0	0	0	0	0	1	13201	330	12	2		2	RECQL	12	21623969	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	790	21623969	112227926	6675	11783										
RECQL	5965	hgsc.bcm.edu	37	chr12	21643223	21643223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctttccagccattgttaCgttaatagtttcaagctgaa	6	10	1	1	rs1065751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:21643223C>T	ENST00000444129.2	-	4	772	c.304G>A	c.(304-306)Gta>Ata	p.V102I	RECQL_ENST00000421138.2_Missense_Mutation_p.V102I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	102	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		V -> I (in dbSNP:rs1065751).		DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCATTGTTACGTTAATAGTT	0.368								Other identified genes with known or suspected DNA repair function					C|||	225	0.0449281	0.1634	0.013	5008	,	,		15171	0.0		0.0	False		,,,				2504	0.0				p.V102I		Atlas-SNP	.											.	RECQL	45	.	0			c.G304A						PASS	.	C	ILE/VAL,ILE/VAL	617,3789	266.5+/-267.3	44,529,1630	122	123	123		304,304	5.3	0.1	12	dbSNP_86	123	4,8596	2.2+/-6.3	0,4,4296	yes	missense,missense	RECQL	NM_002907.3,NM_032941.2	29,29	44,533,5926	TT,TC,CC		0.0465,14.0036,4.7747	benign,benign	102/650,102/650	21643223	621,12385	2203	4300	6503	SO:0001583	missense	5965	exon5			TTGTTACGTTAAT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.304G>A	12.37:g.21643223C>T	ENSP00000416739:p.Val102Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	115	60	0.521739	NM_032941	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	CCDS31756.1	85	0.03891941391941392	80	0.16260162601626016	5	0.013812154696132596	0	0.0	0	0.0	C	15.74	2.923245	0.52653	0.140036	4.65E-4	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240	T;T;T;T;T;T	0.75477	-0.94;-0.94;2.49;2.49;2.49;0.93	5.29	5.29	0.74685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.529047	0.19411	N	0.114924	T	0.00552	0.0018	L	0.36672	1.1	0.31263	P	0.6926570000000001	B	0.16166	0.016	B	0.14023	0.01	T	0.23332	-1.0191	9	0.66056	D	0.02	-2.6848	19.2899	0.94095	0.0:1.0:0.0:0.0	rs1065751;rs1065751	102	P46063	RECQ1_HUMAN	I	102	ENSP00000416739:V102I;ENSP00000395449:V102I;ENSP00000379400:V102I;ENSP00000318727:V102I;ENSP00000445555:V102I;ENSP00000439069:V102I	ENSP00000318727:V102I	V	-	1	0	RECQL	21534490	0.985000	0.35326	0.113000	0.21522	0.868000	0.49771	4.862000	0.62976	2.615000	0.88500	0.650000	0.86243	GTA	T|0.045;G|0.039	0.045	strong		0.368	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		T	21643223	C	T	21643223	3	4	22	1	0	0	0	0	1	0	0	0	13201	536	19	1	1693	1	RECQL	12	21643223	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19254	21643223	112208672	6676	11784										
GYS2	2998	hgsc.bcm.edu	37	chr12	21692210	21692210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgttggtggtgatgttagTtccacatggaatttatctgg	12	6	1	1	rs142883971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:21692210T>C	ENST00000261195.2	-	15	2126	c.1872A>G	c.(1870-1872)gaA>gaG	p.E624E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	624					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGATGTTAGTTCCACATGGA	0.303													T|||	17	0.00339457	0.0121	0.0014	5008	,	,		16759	0.0		0.0	False		,,,				2504	0.0				p.E624E	Colon(149;9 1820 3690 10544 50424)	Atlas-SNP	.											GYS2,NS,carcinoma,-2,1	GYS2	110	1	0			c.A1872G						PASS	.	T		72,4334	63.5+/-100.7	0,72,2131	166	173	171		1872	-3.7	0	12	dbSNP_134	171	0,8600		0,0,4300	no	coding-synonymous	GYS2	NM_021957.3		0,72,6431	CC,CT,TT		0.0,1.6341,0.5536		624/704	21692210	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	2998	exon15			TGTTAGTTCCACA		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1872A>G	12.37:g.21692210T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	91	46	0.505495	NM_021957	A0AVD8	Silent	SNP	ENST00000261195.2	37	CCDS8690.1																																																																																			T|0.995;C|0.005	0.005	strong		0.303	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		C	21692210	T	C	21692210	2	2	22	1	0	0	0	0	0	0	0	1	6913	1722	60	2		2	GYS2	12	21692210	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48987	21692210	112159685	6677	11785										
KIAA0528	9847	hgsc.bcm.edu	37	chr12	22680809	22680809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgtaaaggttcatcttgTaagtcttcatcatccaccta	5	10	6	0	rs12322490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:22680809T>C	ENST00000333957.4	-	4	450	c.195A>G	c.(193-195)ttA>ttG	p.L65L	C2CD5_ENST00000542676.1_Silent_p.L65L|C2CD5_ENST00000396028.2_Silent_p.L65L|C2CD5_ENST00000536386.1_Silent_p.L65L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000545552.1_Silent_p.L65L|C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000446597.1_Silent_p.L65L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	65	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GTTCATCTTGTAAGTCTTCAT	0.303													T|||	229	0.0457268	0.1649	0.0159	5008	,	,		16020	0.0		0.0	False		,,,				2504	0.0				p.L65L		Atlas-SNP	.											.	.	.	.	0			c.A195G						PASS	.	T		560,3846	250.0+/-257.2	37,486,1680	142	130	134		195	0.2	1	12	dbSNP_120	134	7,8593	5.0+/-18.6	0,7,4293	yes	coding-synonymous	KIAA0528	NM_014802.1		37,493,5973	CC,CT,TT		0.0814,12.7099,4.3595		65/1001	22680809	567,12439	2203	4300	6503	SO:0001819	synonymous_variant	9847	exon4			ATCTTGTAAGTCT	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.195A>G	12.37:g.22680809T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	135	93	0.688889	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	CCDS31758.1																																																																																			T|0.950;C|0.050	0.050	strong		0.303	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		C	22680809	T	C	22680809	2	2	22	1	0	0	0	0	0	0	0	1	8182	1635	57	2		2	KIAA0528	12	22680809	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	988599	22680809	111171086	6678	11786										
BCAT1	586	hgsc.bcm.edu	37	chr12	25031515	25031515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactagcagatgttgaataTgggacccattcttgatccaa	9	8	1	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25031515T>C	ENST00000261192.7	-	5	985	c.459A>G	c.(457-459)ccA>ccG	p.P153P	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Silent_p.P152P|BCAT1_ENST00000342945.5_Silent_p.P92P|BCAT1_ENST00000539780.1_Silent_p.P116P|BCAT1_ENST00000539282.1_Silent_p.P165P	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	153					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	ATGTTGAATATGGGACCCATT	0.363																																					p.P165P		Atlas-SNP	.											.	BCAT1	44	.	0			c.A495G						PASS	.						94	91	92					12																	25031515		1894	4128	6022	SO:0001819	synonymous_variant	586	exon5			TGAATATGGGACC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.459A>G	12.37:g.25031515T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	106	9	0.0849057	NM_001178093	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	CCDS44845.1																																																																																			.	.	none		0.363	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		C	25031515	T	C	25031515	2	2	22	1	0	0	0	0	0	0	0	1	1354	1451	51	2		2	BCAT1	12	25031515	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2350706	25031515	108820380	6679	11787										
CASC1	55259	hgsc.bcm.edu	37	chr12	25267613	25267613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttgtatttgaatctcagTaaatactgtagtcacagtta	6	5	2	1	rs34164267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25267613T>C	ENST00000320267.9	-	12	1651	c.1570A>G	c.(1570-1572)Act>Gct	p.T524A	CASC1_ENST00000545133.1_Missense_Mutation_p.T465A|CASC1_ENST00000354189.5_Missense_Mutation_p.T588A|CASC1_ENST00000395990.2_Missense_Mutation_p.T484A|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.T412A|CASC1_ENST00000395987.3_Missense_Mutation_p.T530A	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	524										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGAATCTCAGTAAATACTGTA	0.338													T|||	156	0.0311502	0.1006	0.0259	5008	,	,		18744	0.0		0.004	False		,,,				2504	0.001				p.T588A		Atlas-SNP	.											.	CASC1	146	.	0			c.A1762G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	351,4055	182.2+/-210.1	14,323,1866	71	66	67		1762,1570,1393,1450,1588	1.7	0.2	12	dbSNP_126	67	42,8558	27.9+/-77.7	1,40,4259	yes	missense,missense,missense,missense,missense	CASC1	NM_001082972.1,NM_001082973.1,NM_001204101.1,NM_001204102.1,NM_018272.3	58,58,58,58,58	15,363,6125	CC,CT,TT		0.4884,7.9664,3.0217	benign,benign,benign,benign,benign	588/691,524/717,465/658,484/677,530/723	25267613	393,12613	2203	4300	6503	SO:0001583	missense	55259	exon13			TCTCAGTAAATAC	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1570A>G	12.37:g.25267613T>C	ENSP00000313141:p.Thr524Ala	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	70	39	0.557143	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	57|57	0.0260989010989011|0.0260989010989011	44|44	0.08943089430894309|0.08943089430894309	12|12	0.03314917127071823|0.03314917127071823	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	T|T	5.664|5.664	0.307097|0.307097	0.10733|0.10733	0.079664|0.079664	0.004884|0.004884	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.41400|.	1.0;1.65;1.65;1.05;1.05|.	5.62|5.62	1.68|1.68	0.24146|0.24146	.|.	0.413227|.	0.28683|.	N|.	0.014485|.	T|T	0.00754|0.00754	0.0025|0.0025	N|N	0.16478|0.16478	0.41|0.41	0.19575|0.19575	N|N	0.999966|0.999966	B;B;B;B;B|.	0.25441|.	0.005;0.005;0.126;0.003;0.005|.	B;B;B;B;B|.	0.22386|.	0.014;0.013;0.039;0.003;0.022|.	T|T	0.16129|0.16129	-1.0413|-1.0413	10|5	0.22109|.	T|.	0.4|.	-3.2308|-3.2308	8.0803|8.0803	0.30741|0.30741	0.0:0.409:0.0:0.5909|0.0:0.409:0.0:0.5909	rs34164267|rs34164267	412;465;588;524;530|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	A|C	588;530;524;484;412;465;334|360	ENSP00000346126:T588A;ENSP00000379310:T530A;ENSP00000313141:T524A;ENSP00000379313:T484A;ENSP00000437373:T465A|.	ENSP00000313141:T524A|.	T|Y	-|-	1|2	0|0	CASC1|CASC1	25158880|25158880	0.999000|0.999000	0.42202|0.42202	0.170000|0.170000	0.22879|0.22879	0.887000|0.887000	0.51463|0.51463	0.870000|0.870000	0.28010|0.28010	0.092000|0.092000	0.17331|0.17331	0.533000|0.533000	0.62120|0.62120	ACT|TAC	T|0.970;C|0.030	0.030	strong		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		C	25267613	T	C	25267613	3	2	22	1	0	0	0	0	1	0	0	0	2660	1638	57	2	596	2	CASC1	12	25267613	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	236098	25267613	108584282	6680	11788										
CASC1	55259	hgsc.bcm.edu	37	chr12	25311489	25311489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttctcatatttcaaacGggcttcctctaaagaaccaa	4	11	4	1	rs10842496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25311489G>T	ENST00000320267.9	-	3	178	c.97C>A	c.(97-99)Cgt>Agt	p.R33S	CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Missense_Mutation_p.R39S|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000354189.5_Missense_Mutation_p.R97S	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	33	Glu-rich.		R -> S (in dbSNP:rs10842496). {ECO:0000269|PubMed:16410263}.							breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TATTTCAAACGGGCTTCCTCT	0.303													G|||	1271	0.253794	0.1293	0.3487	5008	,	,		19737	0.1925		0.3757	False		,,,				2504	0.2924				p.R97S		Atlas-SNP	.											.	CASC1	146	.	0			c.C289A						PASS	.	G	SER/ARG,SER/ARG,SER/ARG,,	681,3725	284.6+/-277.7	52,577,1574	79	77	78		289,97,115,,	5.4	1	12	dbSNP_120	78	3109,5487	470.9+/-367.9	564,1981,1753	yes	missense,missense,missense,intron,utr-5	CASC1	NM_001082972.1,NM_001082973.1,NM_018272.3,NM_001204101.1,NM_001204102.1	110,110,110,,	616,2558,3327	TT,TG,GG		36.168,15.4562,29.1494	probably-damaging,probably-damaging,probably-damaging,,	97/691,33/717,39/723,,	25311489	3790,9212	2203	4298	6501	SO:0001583	missense	55259	exon4			TCAAACGGGCTTC	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.97C>A	12.37:g.25311489G>T	ENSP00000313141:p.Arg33Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	598|598	0.27380952380952384|0.27380952380952384	67|67	0.13617886178861788|0.13617886178861788	111|111	0.30662983425414364|0.30662983425414364	138|138	0.24125874125874125|0.24125874125874125	282|282	0.3720316622691293|0.3720316622691293	G|G	17.49|17.49	3.401556|3.401556	0.62288|0.62288	0.154562|0.154562	0.36168|0.36168	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395992	.|T;T;T	.|0.44881	.|1.99;0.91;0.92	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.997;0.999	T|T	0.20706|0.20706	-1.0267|-1.0267	4|9	.|0.66056	.|D	.|0.02	-17.9944|-17.9944	14.7255|14.7255	0.69341|0.69341	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs10842496;rs10842496|rs10842496;rs10842496	.|97;33;39	.|Q6TDU7-3;Q6TDU7;F8W8F9	.|.;CASC1_HUMAN;.	Q|S	8|97;39;33;39	.|ENSP00000346126:R97S;ENSP00000379310:R39S;ENSP00000313141:R33S	.|ENSP00000313141:R33S	P|R	-|-	2|1	0|0	CASC1|CASC1	25202756|25202756	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.990000|0.990000	0.78478|0.78478	3.836000|3.836000	0.55813|0.55813	2.535000|2.535000	0.85469|0.85469	0.573000|0.573000	0.79308|0.79308	CCG|CGT	G|0.728;T|0.272	0.272	strong		0.303	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		T	25311489	G	T	25311489	3	4	22	1	0	0	0	0	1	0	0	0	2660	1116	39	4	2105	4	CASC1	12	25311489	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43876	25311489	108540406	6681	11789										
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25671871	25671871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcaccaagggctgcgattAgggaaaacggttggtgggat	17	6	0	0	rs34028410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25671871A>G	ENST00000282881.6	-	7	1133	c.984T>C	c.(982-984)ccT>ccC	p.P328P	IFLTD1_ENST00000458174.2_Silent_p.P349P|IFLTD1_ENST00000445693.1_Silent_p.P265P|IFLTD1_ENST00000413632.2_Silent_p.P309P|IFLTD1_ENST00000539744.1_Silent_p.P231P	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		328					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GGCTGCGATTAGGGAAAACGG	0.448													G|||	88	0.0175719	0.0628	0.0072	5008	,	,		20109	0.0		0.0	False		,,,				2504	0.0				p.P349P		Atlas-SNP	.											.	IFLTD1	121	.	0			c.T1047C						PASS	.	G	,,,	251,4155	803.2+/-415.7	5,241,1957	101	101	101		795,1047,927,984	-2.9	0	12	dbSNP_126	101	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	,,,	5,242,6256	GG,GA,AA		0.0116,5.6968,1.9376	,,,	265/326,349/410,309/370,328/389	25671871	252,12754	2203	4300	6503	SO:0001819	synonymous_variant	160492	exon8			GCGATTAGGGAAA																												ENST00000282881.6:c.984T>C	12.37:g.25671871A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	151	79	0.523179	NM_001145728	B4DL27|B4DY70|Q8IY38	Silent	SNP	ENST00000282881.6	37	CCDS8704.1	20	0.009157509157509158	17	0.034552845528455285	3	0.008287292817679558	0	0.0	0	0.0	G	1.210	-0.629928	0.03610	0.056968	1.16E-4	ENSG00000152936	ENST00000543629	.	.	.	4.95	-2.93	0.05598	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2418	0.8046	0.01082	0.3824:0.1182:0.2583:0.241	rs34028410	.	.	.	Q	103	.	.	X	-	1	0	IFLTD1	25563138	0.330000	0.24705	0.000000	0.03702	0.293000	0.27360	0.047000	0.14056	-0.848000	0.04163	-0.930000	0.02707	TAA	A|0.980;G|0.020	0.020	strong		0.448	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			G	25671871	A	G	25671871	2	3	22	1	0	0	0	0	0	0	0	1	7530	407	15	3		3	IFLTD1	12	25671871	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	360382	25671871	108180024	6682	11790										
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25672877	25672877	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttctttagttattgtagCtgtagatgctgtccactgaa					rs34074522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25672877C>T	ENST00000282881.6	-	6	1017	c.868G>A	c.(868-870)Gct>Act	p.A290T	IFLTD1_ENST00000458174.2_Missense_Mutation_p.A311T|IFLTD1_ENST00000445693.1_Missense_Mutation_p.A227T|IFLTD1_ENST00000413632.2_Missense_Mutation_p.A271T|IFLTD1_ENST00000539744.1_Missense_Mutation_p.A193T	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		290			A -> T (in dbSNP:rs34074522).		cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTTATTGTAGCTGTAGATGCT	0.383													T|||	88	0.0175719	0.0628	0.0072	5008	,	,		13260	0.0		0.0	False		,,,				2504	0.0				p.A311T		Atlas-SNP	.											IFLTD1_ENST00000458174,NS,carcinoma,+1,2	IFLTD1	121	2	0			c.G931A						PASS	.	T	THR/ALA,THR/ALA,THR/ALA,THR/ALA	251,4155	802.9+/-415.7	5,241,1957	210	187	195		679,931,811,868	-0.6	0	12	dbSNP_126	195	1,8599	818.9+/-406.8	0,1,4299	yes	missense,missense,missense,missense	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	58,58,58,58	5,242,6256	TT,TC,CC		0.0116,5.6968,1.9376	benign,benign,benign,benign	227/326,311/410,271/370,290/389	25672877	252,12754	2203	4300	6503	SO:0001583	missense	160492	exon7			TTGTAGCTGTAGA																												ENST00000282881.6:c.868G>A	12.37:g.25672877C>T	ENSP00000282881:p.Ala290Thr	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	119	50	0.420168	NM_001145728	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	20|20	0.009157509157509158|0.009157509157509158	17|17	0.034552845528455285|0.034552845528455285	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	T|T	0.198|0.198	-1.047307|-1.047307	0.01981|0.01981	0.056968|0.056968	1.16E-4|1.16E-4	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000539523;ENST00000545543|ENST00000543629	T;T;T;T;T;T;T|.	0.22336|.	2.67;2.68;2.67;2.66;2.53;1.96;2.54|.	4.68|4.68	-0.618|-0.618	0.11576|0.11576	.|.	.|.	.|.	.|.	.|.	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.0;0.0|.	T|T	0.30179|0.30179	-0.9987|-0.9987	9|5	0.08599|.	T|.	0.76|.	-1.4413|-1.4413	4.4653|4.4653	0.11685|0.11685	0.1606:0.3771:0.0:0.4623|0.1606:0.3771:0.0:0.4623	rs34074522|rs34074522	227;311;271;290|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	T|N	290;193;311;227;271;7;120|64	ENSP00000282881:A290T;ENSP00000443132:A193T;ENSP00000407353:A311T;ENSP00000407043:A227T;ENSP00000393150:A271T;ENSP00000438160:A7T;ENSP00000443596:A120T|.	ENSP00000282881:A290T|.	A|S	-|-	1|2	0|0	IFLTD1|IFLTD1	25564144|25564144	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.752000|-0.752000	0.04797|0.04797	-0.241000|-0.241000	0.09681|0.09681	-1.163000|-1.163000	0.01768|0.01768	GCT|AGC	C|0.980;T|0.020	0.020	strong		0.383	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			T	25672877	C	T	25672877	3	4	22	1	0	0	0	0	1	0	0	0	7530	797	28	2	310	2	IFLTD1	12	25672877	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1006	25672877	108179018	6683	11791	243	2								
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25672880	25672880	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttagttattgtagctgTagatgctgtccactgaaaca					rs34732786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25672880T>C	ENST00000282881.6	-	6	1014	c.865A>G	c.(865-867)Aca>Gca	p.T289A	IFLTD1_ENST00000413632.2_Missense_Mutation_p.T270A|IFLTD1_ENST00000445693.1_Missense_Mutation_p.T226A|IFLTD1_ENST00000539744.1_Missense_Mutation_p.T192A|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T310A	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		289			T -> A (in dbSNP:rs34732786).		cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					ATTGTAGCTGTAGATGCTGTC	0.378													T|||	88	0.0175719	0.0628	0.0072	5008	,	,		13206	0.0		0.0	False		,,,				2504	0.0				p.T310A		Atlas-SNP	.											.	IFLTD1	121	.	0			c.A928G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR,ALA/THR	251,4155	146.5+/-181.1	5,241,1957	211	187	195		676,928,808,865	-7	0	12	dbSNP_126	195	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	58,58,58,58	5,242,6256	CC,CT,TT		0.0116,5.6968,1.9376	benign,benign,benign,benign	226/326,310/410,270/370,289/389	25672880	252,12754	2203	4300	6503	SO:0001583	missense	160492	exon7			TAGCTGTAGATGC																												ENST00000282881.6:c.865A>G	12.37:g.25672880T>C	ENSP00000282881:p.Thr289Ala	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	121	51	0.421488	NM_001145728	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	20|20	0.009157509157509158|0.009157509157509158	17|17	0.034552845528455285|0.034552845528455285	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	T|T	8.850|8.850	0.944302|0.944302	0.18356|0.18356	0.056968|0.056968	1.16E-4|1.16E-4	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000539523;ENST00000545543|ENST00000543629	T;T;T;T;T;T;T|.	0.22945|.	2.72;2.75;2.72;2.72;2.54;1.93;2.5|.	4.84|4.84	-7.02|-7.02	0.01589|0.01589	.|.	.|.	.|.	.|.	.|.	T|T	0.02267|0.02267	0.0070|0.0070	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17667|.	0.023;0.023;0.023;0.013|.	B;B;B;B|.	0.11329|.	0.003;0.006;0.006;0.002|.	T|T	0.21861|0.21861	-1.0233|-1.0233	9|5	0.62326|.	D|.	0.03|.	-0.6199|-0.6199	9.436|9.436	0.38639|0.38639	0.0:0.5472:0.2462:0.2065|0.0:0.5472:0.2462:0.2065	rs34732786|rs34732786	226;310;270;289|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	A|C	289;192;310;226;270;6;119|63	ENSP00000282881:T289A;ENSP00000443132:T192A;ENSP00000407353:T310A;ENSP00000407043:T226A;ENSP00000393150:T270A;ENSP00000438160:T6A;ENSP00000443596:T119A|.	ENSP00000282881:T289A|.	T|Y	-|-	1|2	0|0	IFLTD1|IFLTD1	25564147|25564147	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-2.565000|-2.565000	0.00918|0.00918	-1.326000|-1.326000	0.02266|0.02266	0.477000|0.477000	0.44152|0.44152	ACA|TAC	T|0.980;C|0.020	0.020	strong		0.378	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			C	25672880	T	C	25672880	3	2	22	1	0	0	0	0	1	0	0	0	7530	1638	57	2	313	2	IFLTD1	12	25672880	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3	25672880	108179015	6684	11792	243	2								
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25672945	25672945	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctactgaacatctgttaaatTcaacgtcagcatctaatttt					rs34326830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25672945T>C	ENST00000282881.6	-	6	949	c.800A>G	c.(799-801)gAa>gGa	p.E267G	IFLTD1_ENST00000458174.2_Missense_Mutation_p.E288G|IFLTD1_ENST00000445693.1_Missense_Mutation_p.E204G|IFLTD1_ENST00000413632.2_Missense_Mutation_p.E248G|IFLTD1_ENST00000539744.1_Missense_Mutation_p.E170G	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		267			E -> G (in dbSNP:rs34326830).		cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TCTGTTAAATTCAACGTCAGC	0.388													T|||	88	0.0175719	0.0628	0.0072	5008	,	,		13538	0.0		0.0	False		,,,				2504	0.0				p.E288G		Atlas-SNP	.											.	IFLTD1	121	.	0			c.A863G						PASS	.	T	GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU	251,4155	144.6+/-179.5	5,241,1957	138	121	126		611,863,743,800	5.1	1	12	dbSNP_126	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	98,98,98,98	5,242,6256	CC,CT,TT		0.0116,5.6968,1.9376	probably-damaging,probably-damaging,probably-damaging,probably-damaging	204/326,288/410,248/370,267/389	25672945	252,12754	2203	4300	6503	SO:0001583	missense	160492	exon7			TTAAATTCAACGT																												ENST00000282881.6:c.800A>G	12.37:g.25672945T>C	ENSP00000282881:p.Glu267Gly	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	155	81	0.522581	NM_001145728	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	20|20	0.009157509157509158|0.009157509157509158	17|17	0.034552845528455285|0.034552845528455285	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	T|T	19.78|19.78	3.891505|3.891505	0.72524|0.72524	0.056968|0.056968	1.16E-4|1.16E-4	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000545543|ENST00000543629	T;T;T;T;T;T|.	0.18502|.	2.35;2.43;2.33;2.38;2.28;2.21|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	T|.	0.05410|.	0.0143|.	L|L	0.32530|0.32530	0.975|0.975	0.29530|0.29530	N|N	0.852852|0.852852	P;P;D;D|.	0.76494|.	0.734;0.946;0.972;0.999|.	B;P;P;D|.	0.64144|.	0.421;0.637;0.723;0.922|.	T|.	0.04635|.	-1.0937|.	9|.	0.87932|.	D|.	0|.	4.219|4.219	11.112|11.112	0.48239|0.48239	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs34326830|rs34326830	204;288;248;267|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	G|W	267;170;288;204;248;97|41	ENSP00000282881:E267G;ENSP00000443132:E170G;ENSP00000407353:E288G;ENSP00000407043:E204G;ENSP00000393150:E248G;ENSP00000443596:E97G|.	ENSP00000282881:E267G|.	E|X	-|-	2|3	0|0	IFLTD1|IFLTD1	25564212|25564212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	3.758000|3.758000	0.55220|0.55220	2.134000|2.134000	0.65973|0.65973	0.477000|0.477000	0.44152|0.44152	GAA|TGA	T|0.980;C|0.020	0.020	strong		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			C	25672945	T	C	25672945	3	2	22	1	0	0	0	0	1	0	0	0	7530	1783	62	2	378	2	IFLTD1	12	25672945	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65	25672945	108178950	6685	11793	244	2								
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25672955	25672955	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgttaaattcaacgtcagCatctaatttttcccacgctt					rs35450203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25672955C>T	ENST00000282881.6	-	6	939	c.790G>A	c.(790-792)Gct>Act	p.A264T	IFLTD1_ENST00000413632.2_Missense_Mutation_p.A245T|IFLTD1_ENST00000445693.1_Missense_Mutation_p.A201T|IFLTD1_ENST00000539744.1_Missense_Mutation_p.A167T|IFLTD1_ENST00000458174.2_Missense_Mutation_p.A285T	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		264			A -> T (in dbSNP:rs35450203).		cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TCAACGTCAGCATCTAATTTT	0.383													T|||	88	0.0175719	0.0628	0.0072	5008	,	,		13163	0.0		0.0	False		,,,				2504	0.0				p.A285T		Atlas-SNP	.											.	IFLTD1	121	.	0			c.G853A						PASS	.	T	THR/ALA,THR/ALA,THR/ALA,THR/ALA	252,4154	803.0+/-415.7	5,242,1956	123	107	112		601,853,733,790	2.6	1	12	dbSNP_126	112	1,8599	818.9+/-406.8	0,1,4299	yes	missense,missense,missense,missense	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	58,58,58,58	5,243,6255	TT,TC,CC		0.0116,5.7195,1.9453	benign,benign,benign,benign	201/326,285/410,245/370,264/389	25672955	253,12753	2203	4300	6503	SO:0001583	missense	160492	exon7			CGTCAGCATCTAA																												ENST00000282881.6:c.790G>A	12.37:g.25672955C>T	ENSP00000282881:p.Ala264Thr	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	159	89	0.559748	NM_001145728	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	20|20	0.009157509157509158|0.009157509157509158	17|17	0.034552845528455285|0.034552845528455285	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	T|T	2.163|2.163	-0.391668|-0.391668	0.04932|0.04932	0.057195|0.057195	1.16E-4|1.16E-4	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000545543|ENST00000543629	T;T;T;T;T;T|.	0.12569|.	2.92;2.9;2.94;2.89;2.67;2.69|.	5.05|5.05	2.61|2.61	0.31194|0.31194	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	N|N	0.01048|0.01048	-1.04|-1.04	0.19300|0.19300	N|N	0.999978|0.999978	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|T	0.32188|0.32188	-0.9916|-0.9916	9|5	0.02654|.	T|.	1|.	-2.2559|-2.2559	4.0577|4.0577	0.09824|0.09824	0.3165:0.0877:0.0:0.5958|0.3165:0.0877:0.0:0.5958	rs35450203|rs35450203	201;285;245;264|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	T|Y	264;167;285;201;245;94|38	ENSP00000282881:A264T;ENSP00000443132:A167T;ENSP00000407353:A285T;ENSP00000407043:A201T;ENSP00000393150:A245T;ENSP00000443596:A94T|.	ENSP00000282881:A264T|.	A|C	-|-	1|2	0|0	IFLTD1|IFLTD1	25564222|25564222	0.160000|0.160000	0.22878|0.22878	0.953000|0.953000	0.39169|0.39169	0.671000|0.671000	0.39405|0.39405	0.141000|0.141000	0.16076|0.16076	0.050000|0.050000	0.15949|0.15949	-0.352000|-0.352000	0.07741|0.07741	GCT|TGC	C|0.980;T|0.020	0.020	strong		0.383	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			T	25672955	C	T	25672955	3	4	22	1	0	0	0	0	1	0	0	0	7530	710	25	2	388	2	IFLTD1	12	25672955	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10	25672955	108178940	6686	11794	244	2								
IFLTD1	160492	hgsc.bcm.edu	37	chr12	25673001	25673001	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtggataggggtgtaccaCgcaatggcctaatgaaaatg	13	7	0	1	rs76419032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:25673001C>G	ENST00000282881.6	-	6	893	c.744G>C	c.(742-744)gcG>gcC	p.A248A	IFLTD1_ENST00000458174.2_Silent_p.A269A|IFLTD1_ENST00000445693.1_Silent_p.A185A|IFLTD1_ENST00000413632.2_Silent_p.A229A|IFLTD1_ENST00000539744.1_Silent_p.A151A	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		248	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GGGTGTACCACGCAATGGCCT	0.343													G|||	88	0.0175719	0.0628	0.0072	5008	,	,		13235	0.0		0.0	False		,,,				2504	0.0				p.A269A		Atlas-SNP	.											.	IFLTD1	121	.	0			c.G807C						PASS	.	G	,,,	248,4158	801.2+/-415.6	5,238,1960	79	67	71		555,807,687,744	0.9	1	12	dbSNP_132	71	1,8599	818.4+/-406.9	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IFLTD1	NM_001145727.1,NM_001145728.1,NM_001145729.1,NM_152590.2	,,,	5,239,6259	GG,GC,CC		0.0116,5.6287,1.9145	,,,	185/326,269/410,229/370,248/389	25673001	249,12757	2203	4300	6503	SO:0001819	synonymous_variant	160492	exon7			GTACCACGCAATG																												ENST00000282881.6:c.744G>C	12.37:g.25673001C>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	112	65	0.580357	NM_001145728	B4DL27|B4DY70|Q8IY38	Silent	SNP	ENST00000282881.6	37	CCDS8704.1	20	0.009157509157509158	17	0.034552845528455285	3	0.008287292817679558	0	0.0	0	0.0	G	1.295	-0.606444	0.03717	0.056287	1.16E-4	ENSG00000152936	ENST00000543629	.	.	.	5.05	0.883	0.19177	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07654	-1.0761	4	.	.	.	-5.3188	0.7606	0.01006	0.2856:0.1643:0.3812:0.1689	.	.	.	.	L	23	.	.	V	-	1	0	IFLTD1	25564268	1.000000	0.71417	0.983000	0.44433	0.110000	0.19582	0.968000	0.29357	0.060000	0.16281	-1.126000	0.01995	GTG	C|0.981;G|0.019	0.019	strong		0.343	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			G	25673001	C	G	25673001	2	3	22	1	0	0	0	0	0	0	0	1	7530	523	19	4		4	IFLTD1	12	25673001	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46	25673001	108178894	6687	11795										
BHLHE41	79365	hgsc.bcm.edu	37	chr12	26275297	26275297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggtatagcagcgggaacGgggcggcagccgccgccggg	21	12	0	0	rs121912617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26275297G>T	ENST00000242728.4	-	5	1498	c.1151C>A	c.(1150-1152)cCg>cAg	p.P384Q	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	384	Ala/Gly-rich.		P -> R (associated with short sleep phenotype). {ECO:0000269|PubMed:19679812}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CAGCGGGAACGGGGCGGCAGC	0.741													G|||	36	0.0071885	0.0227	0.0086	5008	,	,		4052	0.0		0.0	False		,,,				2504	0.0				p.P384Q		Atlas-SNP	.											.	BHLHE41	20	.	0			c.C1151A						PASS	.						2	3	2					12																	26275297		1465	3164	4629	SO:0001583	missense	79365	exon5			GGGAACGGGGCGG	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"Basic helix-loop-helix proteins"	16617	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 2", "Enhancer-of-split and hairy-related protein 1"	606200	"basic helix-loop-helix domain containing, class B, 3"	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.1151C>A	12.37:g.26275297G>T	ENSP00000242728:p.Pro384Gln	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	5	4	0.8	NM_030762	A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	37	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622122	0.46840	.	.	ENSG00000123095	ENST00000242728	T	0.79141	-1.24	3.09	3.09	0.35607	.	1.892810	0.04121	U	0.316359	T	0.75280	0.3828	L	0.38838	1.175	0.80722	D	1	D	0.53151	0.958	P	0.44860	0.462	T	0.68443	-0.5407	10	0.87932	D	0	.	11.9445	0.52920	0.0:0.0:1.0:0.0	.	384	Q9C0J9	BHE41_HUMAN	Q	384	ENSP00000242728:P384Q	ENSP00000242728:P384Q	P	-	2	0	BHLHE41	26166564	1.000000	0.71417	0.985000	0.45067	0.044000	0.14063	7.845000	0.86875	1.435000	0.47434	0.471000	0.43371	CCG	.	.	alt		0.741	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		T	26275297	G	T	26275297	3	4	22	1	0	0	0	0	1	0	0	0	1424	1116	39	4	301	4	BHLHE41	12	26275297	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	602296	26275297	107576598	6688	11796										
SSPN	8082	hgsc.bcm.edu	37	chr12	26383959	26383959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggtcttctatgtgggtGtcaggatatgctccctcacg	11	11	4	0	rs12313736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26383959G>A	ENST00000242729.2	+	3	859	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000540266.1_Missense_Mutation_p.V125I|SSPN_ENST00000422622.2_Missense_Mutation_p.V125I|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	228			V -> I (in dbSNP:rs12313736).		cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTATGTGGGTGTCAGGATATG	0.483													G|||	457	0.091254	0.2821	0.0605	5008	,	,		17485	0.0		0.0258	False		,,,				2504	0.0164				p.V228I		Atlas-SNP	.											.	SSPN	19	.	0			c.G682A						PASS	.	G	ILE/VAL,ILE/VAL	993,3413	370.5+/-319.6	128,737,1338	107	103	104		373,682	3.9	0.9	12	dbSNP_120	104	302,8298	109.8+/-170.3	6,290,4004	yes	missense,missense	SSPN	NM_001135823.1,NM_005086.4	29,29	134,1027,5342	AA,AG,GG		3.5116,22.5374,9.9569	benign,benign	125/141,228/244	26383959	1295,11711	2203	4300	6503	SO:0001583	missense	8082	exon3			GTGGGTGTCAGGA	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"Kras oncogene-associated gene"	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.682G>A	12.37:g.26383959G>A	ENSP00000242729:p.Val228Ile	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_005086	B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	CCDS8707.1	141	0.06456043956043957	104	0.21138211382113822	17	0.04696132596685083	0	0.0	20	0.026385224274406333	G	14.98	2.697051	0.48202	0.225374	0.035116	ENSG00000123096	ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T	0.33865	1.47;1.47;1.39	4.81	3.9	0.45041	.	0.202595	0.42821	D	0.000653	T	0.00012	0.0000	L	0.57536	1.79	0.22050	P	0.999396981	B	0.11235	0.004	B	0.06405	0.002	T	0.08764	-1.0706	8	.	.	.	-8.9216	7.5114	0.27575	0.1437:0.148:0.7083:0.0	rs12313736;rs52831951;rs12313736	228	Q14714	SSPN_HUMAN	I	125;125;228;202	ENSP00000442893:V125I;ENSP00000396087:V125I;ENSP00000242729:V228I	.	V	+	1	0	SSPN	26275226	0.003000	0.15002	0.919000	0.36401	0.943000	0.58893	1.274000	0.33132	2.396000	0.81511	0.563000	0.77884	GTC	G|0.913;A|0.087	0.087	strong		0.483	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		A	26383959	G	A	26383959	3	1	22	1	0	0	0	0	1	0	0	0	15187	1377	48	2	692	2	SSPN	12	26383959	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108662	26383959	107467936	6689	11797										
ITPR2	3709	hgsc.bcm.edu	37	chr12	26774089	26774089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccacctttcacttgactTtcccctatttctccattctc	1	17	4	1	rs2230373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26774089T>G	ENST00000381340.3	-	26	3845	c.3429A>C	c.(3427-3429)gaA>gaC	p.E1143D	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'Flank	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1143			E -> D (in dbSNP:rs16931091).		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)	TCACTTGACTTTCCCCTATTT	0.413													T|||	203	0.0405351	0.149	0.0072	5008	,	,		18812	0.0		0.001	False		,,,				2504	0.0				p.E1143D		Atlas-SNP	.											.	ITPR2	270	.	0			c.A3429C						PASS	.	T	ASP/GLU	488,3302		24,440,1431	380	359	366		3429	-0.8	0.6	12	dbSNP_123	366	1,8249		0,1,4124	yes	missense	ITPR2	NM_002223.2	45	24,441,5555	GG,GT,TT		0.0121,12.876,4.0615	benign	1143/2702	26774089	489,11551	1895	4125	6020	SO:0001583	missense	3709	exon26			TTGACTTTCCCCT	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.3429A>C	12.37:g.26774089T>G	ENSP00000370744:p.Glu1143Asp	Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	281	139	0.494662	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	82	0.037545787545787544	81	0.16463414634146342	1	0.0027624309392265192	0	0.0	0	0.0	T	9.713	1.157689	0.21454	0.12876	1.21E-4	ENSG00000123104	ENST00000381340	D	0.91996	-2.95	4.36	-0.782	0.10961	.	0.222293	0.40554	N	0.001063	T	0.00754	0.0025	N	0.05574	-0.02	0.31748	P	0.634949	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	9	0.14656	T	0.56	.	1.8975	0.03261	0.1237:0.3347:0.2527:0.2889	rs16931091;rs56635647;rs16931091	1143	Q14571	ITPR2_HUMAN	D	1143	ENSP00000370744:E1143D	ENSP00000370744:E1143D	E	-	3	2	ITPR2	26665356	0.003000	0.15002	0.552000	0.28243	0.721000	0.41392	-0.083000	0.11286	-0.216000	0.10048	0.454000	0.30748	GAA	T|0.944;G|0.056	0.056	strong		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		G	26774089	T	G	26774089	3	3	22	1	0	0	0	0	1	0	0	0	7921	1838	64	5	4804	5	ITPR2	12	26774089	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	390130	26774089	107077806	6690	11798										
ITPR2	3709	hgsc.bcm.edu	37	chr12	26816779	26816779	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttaagaattccaaataCctatcaggaataaaaacagc	5	8	1	1	rs77639758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26816779C>T	ENST00000381340.3	-	15	1968	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	518					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)	ATTCCAAATACCTATCAGGAA	0.338													C|||	19	0.00379393	0.0136	0.0014	5008	,	,		15680	0.0		0.0	False		,,,				2504	0.0				p.V518I		Atlas-SNP	.											.	ITPR2	270	.	0			c.G1552A						PASS	.	C	ILE/VAL	30,3602		0,30,1786	151	148	149		1552	4.5	1	12	dbSNP_131	149	0,8144		0,0,4072	yes	missense-near-splice	ITPR2	NM_002223.2	29	0,30,5858	TT,TC,CC		0.0,0.826,0.2548	benign	518/2702	26816779	30,11746	1816	4072	5888	SO:0001630	splice_region_variant	3709	exon15			CAAATACCTATCA	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.1552-1G>A	12.37:g.26816779C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	74	38	0.513514	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	4.645	0.119815	0.08881	0.00826	0.0	ENSG00000123104	ENST00000381340	D	0.96885	-4.16	4.5	4.5	0.54988	Intracellular calcium-release channel (1);	0.053381	0.64402	D	0.000001	T	0.78317	0.4264	N	0.01242	-0.935	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.77744	-0.2473	10	0.02654	T	1	.	5.5858	0.17274	0.0:0.7597:0.0:0.2403	.	518	Q14571	ITPR2_HUMAN	I	518	ENSP00000370744:V518I	ENSP00000370744:V518I	V	-	1	0	ITPR2	26708046	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.869000	0.63028	2.489000	0.83994	0.655000	0.94253	GTA	C|0.998;T|0.002	0.002	strong		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Missense_Mutation	T	26816779	C	T	26816779	5	4	22	1	0	0	0	0	0	0	1	0	7921	521	18	2	6725	2	ITPR2	12	26816779	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42690	26816779	107035116	6691	11799										
ITPR2	3709	hgsc.bcm.edu	37	chr12	26834833	26834833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattctgagttattgtgccGttttctagctttttaactgt	7	7	3	1	rs35412320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26834833G>A	ENST00000381340.3	-	13	1799	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	461					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)	TTATTGTGCCGTTTTCTAGCT	0.378													G|||	47	0.00938498	0.0348	0.0014	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.0				p.N461N		Atlas-SNP	.											ITPR2,colon,carcinoma,-2,1	ITPR2	270	1	0			c.C1383T						PASS	.	G		94,3584		1,92,1746	196	185	189		1383	-10.2	0.4	12	dbSNP_126	189	1,8193		0,1,4096	no	coding-synonymous	ITPR2	NM_002223.2		1,93,5842	AA,AG,GG		0.0122,2.5557,0.8002		461/2702	26834833	95,11777	1839	4097	5936	SO:0001819	synonymous_variant	3709	exon13			TGTGCCGTTTTCT	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.1383C>T	12.37:g.26834833G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	119	44	0.369748	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			G|0.991;A|0.009	0.009	strong		0.378	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26834833	G	A	26834833	2	1	22	1	0	0	0	0	0	0	0	1	7921	1136	40	1		1	ITPR2	12	26834833	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18054	26834833	107017062	6692	11800										
ITPR2	3709	hgsc.bcm.edu	37	chr12	26868289	26868289	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagctgattggcgcaaggtCgtacgaaggaaaatgtgctg	15	6	0	1	rs2230383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:26868289C>T	ENST00000381340.3	-	8	1214	c.798G>A	c.(796-798)acG>acA	p.T266T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	266	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.|MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	GGCGCAAGGTCGTACGAAGGA	0.363													C|||	388	0.077476	0.2534	0.0317	5008	,	,		18208	0.0		0.0159	False		,,,				2504	0.0153				p.T266T		Atlas-SNP	.											.	ITPR2	270	.	0			c.G798A						PASS	.	C		821,2933		100,621,1156	145	144	144		798	-4.6	1	12	dbSNP_98	144	153,8055		1,151,3952	no	coding-synonymous	ITPR2	NM_002223.2		101,772,5108	TT,TC,CC		1.864,21.87,8.1425		266/2702	26868289	974,10988	1877	4104	5981	SO:0001819	synonymous_variant	3709	exon8			CAAGGTCGTACGA	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.798G>A	12.37:g.26868289C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	66	65	0.984848	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			C|0.931;T|0.069	0.069	strong		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26868289	C	T	26868289	2	4	22	1	0	0	0	0	0	0	0	1	7921	871	31	1		1	ITPR2	12	26868289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33456	26868289	106983606	6693	11801										
TM7SF3	51768	hgsc.bcm.edu	37	chr12	27148324	27148324	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctgtcccagcgtcacatGgtgggggatctacgcctcta	13	12	4	0	rs34735713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27148324G>C	ENST00000343028.4	-	5	761	c.536C>G	c.(535-537)cCa>cGa	p.P179R	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	179			P -> R (in dbSNP:rs34735713).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AGCGTCACATGGTGGGGGATC	0.468													G|||	109	0.0217652	0.0779	0.0086	5008	,	,		21417	0.0		0.0	False		,,,				2504	0.0				p.P179R		Atlas-SNP	.											.	TM7SF3	41	.	0			c.C536G						PASS	.	G	ARG/PRO	360,4046	183.3+/-210.9	16,328,1859	68	56	60		536	2.5	0	12	dbSNP_126	60	5,8595	3.7+/-12.6	0,5,4295	yes	missense	TM7SF3	NM_016551.2	103	16,333,6154	CC,CG,GG		0.0581,8.1707,2.8064	possibly-damaging	179/571	27148324	365,12641	2203	4300	6503	SO:0001583	missense	51768	exon5			TCACATGGTGGGG	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.536C>G	12.37:g.27148324G>C	ENSP00000342322:p.Pro179Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	119	61	0.512605	NM_016551	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	CCDS8710.1	32	0.014652014652014652	31	0.06300813008130081	1	0.0027624309392265192	0	0.0	0	0.0	G	13.61	2.289340	0.40494	0.081707	5.81E-4	ENSG00000064115	ENST00000343028;ENST00000543803;ENST00000539741;ENST00000543088	T;T;T;T	0.44881	1.5;0.92;0.91;0.93	4.27	2.45	0.29901	.	0.491723	0.22200	N	0.063241	T	0.01870	0.0059	L	0.60455	1.87	0.09310	N	1	P	0.42409	0.779	B	0.33690	0.168	T	0.02184	-1.1199	10	0.66056	D	0.02	-0.8778	8.9426	0.35740	0.2425:0.0:0.7575:0.0	rs34735713	179	Q9NS93	TM7S3_HUMAN	R	179;77;57;57	ENSP00000342322:P179R;ENSP00000442617:P77R;ENSP00000441027:P57R;ENSP00000444632:P57R	ENSP00000342322:P179R	P	-	2	0	TM7SF3	27039591	0.546000	0.26457	0.001000	0.08648	0.002000	0.02628	3.800000	0.55537	0.574000	0.29417	-0.157000	0.13467	CCA	G|0.971;C|0.029	0.029	strong		0.468	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		C	27148324	G	C	27148324	3	2	22	1	0	0	0	0	1	0	0	0	15972	1348	47	4	1208	4	TM7SF3	12	27148324	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	280035	27148324	106703571	6694	11802										
STK38L	23012	hgsc.bcm.edu	37	chr12	27450671	27450671	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actatggcaatgacggcaggGactacaacaacctttcctat	8	11	0	1	rs56140810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27450671G>T	ENST00000389032.3	+	2	187	c.18G>T	c.(16-18)ggG>ggT	p.G6G	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TGACGGCAGGGACTACAACAA	0.373													G|||	124	0.0247604	0.0862	0.013	5008	,	,		18491	0.0		0.001	False		,,,				2504	0.0				p.G6G		Atlas-SNP	.											.	STK38L	44	.	0			c.G18T						PASS	.	G		384,4022	185.0+/-212.2	18,348,1837	90	90	90		18	5.2	1	12	dbSNP_129	90	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	STK38L	NM_015000.3		18,352,6133	TT,TG,GG		0.0465,8.7154,2.9832		6/465	27450671	388,12618	2203	4300	6503	SO:0001819	synonymous_variant	23012	exon2			GGCAGGGACTACA	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.18G>T	12.37:g.27450671G>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_015000		Silent	SNP	ENST00000389032.3	37	CCDS31761.1																																																																																			G|0.972;T|0.028	0.028	strong		0.373	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		T	27450671	G	T	27450671	2	4	22	1	0	0	0	0	0	0	0	1	15303	1161	41	4		4	STK38L	12	27450671	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	302347	27450671	106401224	6695	11803										
ARNTL2	56938	hgsc.bcm.edu	37	chr12	27543028	27543028	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcccccttctgcacgaaaGctggtttgcaagttcacagt	9	13	2	0	rs113615248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27543028G>A	ENST00000266503.5	+	9	793		c.e9-1		ARNTL2_ENST00000544915.1_Splice_Site|ARNTL2_ENST00000311001.5_Splice_Site|ARNTL2_ENST00000395901.2_Splice_Site|ARNTL2_ENST00000542388.1_Splice_Site|ARNTL2_ENST00000261178.5_Splice_Site|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Splice_Site			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2						circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGCACGAAAGCTGGTTTGCA	0.383													G|||	31	0.0061901	0.0227	0.0014	5008	,	,		17019	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	ARNTL2	54	.	0			c.665-1G>A						PASS	.	G		135,4271	96.7+/-135.4	1,133,2069	153	151	152			2.2	0.2	12	dbSNP_132	152	3,8597	3.0+/-9.4	0,3,4297	yes	splice-3	ARNTL2	NM_020183.3		1,136,6366	AA,AG,GG		0.0349,3.064,1.061			27543028	138,12868	2203	4300	6503	SO:0001630	splice_region_variant	56938	exon7			ACGAAAGCTGGTT	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.776-1G>A	12.37:g.27543028G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	151	78	0.516556	NM_001248005	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Splice_Site	SNP	ENST00000266503.5	37	CCDS8712.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	17.45	3.393650	0.62066	0.03064	3.49E-4	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000457040;ENST00000542388	.	.	.	3.14	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6704	0.34147	0.1092:0.0:0.8908:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL2	27434295	1.000000	0.71417	0.181000	0.23098	0.664000	0.39144	7.551000	0.82182	0.675000	0.31264	0.655000	0.94253	.	G|0.991;A|0.009	0.009	strong		0.383	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	Intron	A	27543028	G	A	27543028	5	1	22	1	0	0	0	0	0	0	1	0	968	985	34	2	809	2	ARNTL2	12	27543028	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	92357	27543028	106308867	6696	11804										
ARNTL2	56938	hgsc.bcm.edu	37	chr12	27543141	27543141	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatctctgtcaaagaagaGcatggatgcttacccaactc	7	10	2	2	rs74988383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27543141G>C	ENST00000266503.5	+	9	906	c.888G>C	c.(886-888)gaG>gaC	p.E296D	ARNTL2_ENST00000544915.1_Missense_Mutation_p.E262D|ARNTL2_ENST00000311001.5_Missense_Mutation_p.E282D|ARNTL2_ENST00000395901.2_Missense_Mutation_p.E259D|ARNTL2_ENST00000542388.1_Missense_Mutation_p.E211D|ARNTL2_ENST00000261178.5_Missense_Mutation_p.E248D|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.E259D			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	296					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TCAAAGAAGAGCATGGATGCT	0.373													G|||	31	0.0061901	0.0227	0.0014	5008	,	,		17221	0.0		0.0	False		,,,				2504	0.0				p.E296D		Atlas-SNP	.											.	ARNTL2	54	.	0			c.G888C						PASS	.	G	ASP/GLU	136,4270	97.1+/-135.8	1,134,2068	94	92	92		888	-2.6	0.3	12	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ARNTL2	NM_020183.3	45	1,137,6365	CC,CG,GG		0.0349,3.0867,1.0687	benign	296/637	27543141	139,12867	2203	4300	6503	SO:0001583	missense	56938	exon9			AGAAGAGCATGGA	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.888G>C	12.37:g.27543141G>C	ENSP00000266503:p.Glu296Asp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	13|13	0.005952380952380952|0.005952380952380952	13|13	0.026422764227642278|0.026422764227642278	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.22|17.22	3.334286|3.334286	0.60853|0.60853	0.030867|0.030867	3.49E-4|3.49E-4	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	T;T;T;T;T;T;T|.	0.08720|.	3.16;3.17;3.06;3.16;3.18;3.16;3.19|.	3.71|3.71	-2.58|-2.58	0.06228|0.06228	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37571|0.37571	0.1008|0.1008	M|M	0.70903|0.70903	2.155|2.155	0.38371|0.38371	D|D	0.944876|0.944876	P;D;P;P;B;B|.	0.53151|.	0.907;0.958;0.907;0.907;0.161;0.09|.	P;P;P;P;B;B|.	0.60345|.	0.686;0.873;0.801;0.686;0.137;0.103|.	T|T	0.58601|0.58601	-0.7608|-0.7608	10|5	0.56958|.	D|.	0.05|.	.|.	10.3192|10.3192	0.43756|0.43756	0.6174:0.0:0.3826:0.0|0.6174:0.0:0.3826:0.0	.|.	259;262;259;248;282;296|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	D|T	262;259;259;282;248;296;211|248	ENSP00000442438:E262D;ENSP00000379238:E259D;ENSP00000438545:E259D;ENSP00000312247:E282D;ENSP00000261178:E248D;ENSP00000266503:E296D;ENSP00000445836:E211D|.	ENSP00000261178:E248D|.	E|S	+|+	3|2	2|0	ARNTL2|ARNTL2	27434408|27434408	0.865000|0.865000	0.29922|0.29922	0.275000|0.275000	0.24674|0.24674	0.946000|0.946000	0.59487|0.59487	-0.103000|-0.103000	0.10940|0.10940	-0.470000|-0.470000	0.06901|0.06901	0.655000|0.655000	0.94253|0.94253	GAG|AGC	G|0.991;C|0.009	0.009	strong		0.373	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		C	27543141	G	C	27543141	3	2	22	1	0	0	0	0	1	0	0	0	968	962	34	4	922	4	ARNTL2	12	27543141	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113	27543141	106308754	6697	11805										
PPFIBP1	8496	hgsc.bcm.edu	37	chr12	27829369	27829369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcctctcaggacagagcTccggcagaaagcaggccatt	11	12	1	2	rs35150305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27829369T>C	ENST00000318304.8	+	18	1753	c.1470T>C	c.(1468-1470)gcT>gcC	p.A490A	PPFIBP1_ENST00000542629.1_Silent_p.A459A|PPFIBP1_ENST00000228425.6_Silent_p.A473A|PPFIBP1_ENST00000537927.1_Silent_p.A337A	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	490					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGGACAGAGCTCCGGCAGAAA	0.547													T|||	123	0.0245607	0.0915	0.0029	5008	,	,		17752	0.0		0.0	False		,,,				2504	0.0				p.A490A		Atlas-SNP	.											.	PPFIBP1	153	.	0			c.T1470C						PASS	.	T	,,,	340,4066	176.2+/-205.4	9,322,1872	61	63	62		1011,1377,1419,1470	-2.5	0	12	dbSNP_126	62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	,,,	9,325,6169	CC,CT,TT		0.0349,7.7167,2.6372	,,,	337/859,459/981,473/1006,490/1012	27829369	343,12663	2203	4300	6503	SO:0001819	synonymous_variant	8496	exon18			CAGAGCTCCGGCA	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1470T>C	12.37:g.27829369T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	130	71	0.546154	NM_177444	O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																			T|0.978;C|0.022	0.022	strong		0.547	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		C	27829369	T	C	27829369	2	2	22	1	0	0	0	0	0	0	0	1	12313	1538	54	3		3	PPFIBP1	12	27829369	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	286228	27829369	106022526	6698	11806										
PPFIBP1	8496	hgsc.bcm.edu	37	chr12	27842052	27842052	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccactcatttcaaccttctGattggggctgaggcacagca	10	12	3	2	rs61730962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:27842052G>A	ENST00000318304.8	+	26	2902	c.2619G>A	c.(2617-2619)ctG>ctA	p.L873L	PPFIBP1_ENST00000537927.1_Silent_p.L720L|PPFIBP1_ENST00000542629.1_Silent_p.L842L|PPFIBP1_ENST00000228425.6_Silent_p.L867L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	873	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCAACCTTCTGATTGGGGCTG	0.473													G|||	274	0.0547125	0.2005	0.0115	5008	,	,		18229	0.0		0.001	False		,,,				2504	0.0				p.L873L		Atlas-SNP	.											.	PPFIBP1	153	.	0			c.G2619A						PASS	.	G	,,,	720,3686	299.0+/-285.6	56,608,1539	130	117	121		2160,2526,2601,2619	4.4	1	12	dbSNP_129	121	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	,,,	56,612,5835	AA,AG,GG		0.0465,16.3414,5.5667	,,,	720/859,842/981,867/1006,873/1012	27842052	724,12282	2203	4300	6503	SO:0001819	synonymous_variant	8496	exon26			CCTTCTGATTGGG	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2619G>A	12.37:g.27842052G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	167	84	0.502994	NM_177444	O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																			G|0.949;A|0.051	0.051	strong		0.473	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		A	27842052	G	A	27842052	2	1	22	1	0	0	0	0	0	0	0	1	12313	1277	45	2		2	PPFIBP1	12	27842052	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12683	27842052	106009843	6699	11807										
CCDC91	55297	hgsc.bcm.edu	37	chr12	28603112	28603112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatcagaggctccttgaaAtgctagatacagagaaggaa	11	7	1	4	rs1133028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:28603112A>G	ENST00000545336.1	+	12	1200	c.781A>G	c.(781-783)Atg>Gtg	p.M261V	CCDC91_ENST00000381256.1_Missense_Mutation_p.M225V|CCDC91_ENST00000306172.5_Missense_Mutation_p.M231V|CCDC91_ENST00000381259.1_Missense_Mutation_p.M261V|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.M225V			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	261	Homodimerization.		M -> V (in dbSNP:rs1133028).		protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GCTCCTTGAAATGCTAGATAC	0.368													A|||	652	0.130192	0.4418	0.0605	5008	,	,		16544	0.0		0.0209	False		,,,				2504	0.0051				p.M261V		Atlas-SNP	.											.	CCDC91	63	.	0			c.A781G						PASS	.	A	VAL/MET	1612,2786		297,1018,884	60	71	67		781	4.8	1	12	dbSNP_86	67	175,8413		0,175,4119	yes	missense	CCDC91	NM_018318.3	21	297,1193,5003	GG,GA,AA		2.0377,36.653,13.761	benign	261/442	28603112	1787,11199	2199	4294	6493	SO:0001583	missense	55297	exon8			CTTGAAATGCTAG	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.781A>G	12.37:g.28603112A>G	ENSP00000438040:p.Met261Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	109	51	0.46789	NM_018318	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	227	0.10393772893772894	197	0.40040650406504064	20	0.055248618784530384	0	0.0	10	0.013192612137203167	A	9.597	1.127791	0.20959	0.36653	0.020377	ENSG00000123106	ENST00000540794;ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T;T;T	0.52983	0.64;1.36;1.03;1.63;1.62;1.63;1.62;1.03;1.61	5.98	4.85	0.62838	.	0.214977	0.42420	N	0.000705	T	0.00012	0.0000	N	0.08118	0	0.41847	P	0.009843999999999964	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41980	-0.9478	9	0.11485	T	0.65	-9.2621	9.29	0.37780	0.9181:0.0:0.0819:0.0	rs1133028;rs3194433;rs11049614;rs61569269;rs1133028	225;261;231	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	V	57;1;225;261;261;261;261;225;231	ENSP00000441714:M57V;ENSP00000444440:M1V;ENSP00000440513:M225V;ENSP00000445660:M261V;ENSP00000438040:M261V;ENSP00000442544:M261V;ENSP00000370658:M261V;ENSP00000370655:M225V;ENSP00000305075:M231V	ENSP00000305075:M231V	M	+	1	0	CCDC91	28494379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.951000	0.56684	1.099000	0.41499	0.482000	0.46254	ATG	A|0.875;G|0.125	0.125	strong		0.368	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		G	28603112	A	G	28603112	3	3	22	1	0	0	0	0	1	0	0	0	2870	101	4	2	811	2	CCDC91	12	28603112	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	761060	28603112	105248783	6700	11808										
DDX11	1663	hgsc.bcm.edu	37	chr12	31249861	31249861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctccactgatgcacatcCaaggcttcctggcagctctc	7	16	2	1	rs2075322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31249861C>G	ENST00000407793.2	+	17	1950	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E	DDX11_ENST00000350437.4_Missense_Mutation_p.Q567E|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.Q541E|DDX11_ENST00000545668.1_Missense_Mutation_p.Q567E|DDX11_ENST00000542838.1_Missense_Mutation_p.Q567E	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	567			Q -> E (in dbSNP:rs2075322). {ECO:0000269|PubMed:9013641, ECO:0000269|Ref.3}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GATGCACATCCAAGGCTTCCT	0.622										Multiple Myeloma(12;0.14)			G|||	3211	0.641174	0.708	0.6066	5008	,	,		19076	0.8294		0.4284	False		,,,				2504	0.6002				p.Q567E		Atlas-SNP	.											.	DDX11	188	.	0			c.C1699G						PASS	.	G	GLU/GLN,GLU/GLN,GLU/GLN	3015,1391	454.4+/-350.6	1029,957,217	45	47	46		1699,1699,1699	2.6	0.4	12	dbSNP_96	46	3876,4724	606.1+/-395.1	890,2096,1314	yes	missense,missense,missense	DDX11	NM_004399.2,NM_030653.3,NM_152438.1	29,29,29	1919,3053,1531	GG,GC,CC		45.0698,31.5706,47.0168	benign,benign,benign	567/857,567/907,567/971	31249861	6891,6115	2203	4300	6503	SO:0001583	missense	1663	exon17			CACATCCAAGGCT	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1699C>G	12.37:g.31249861C>G	ENSP00000384703:p.Gln567Glu	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	175	77	0.44	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	1393	0.6378205128205128	370	0.7520325203252033	213	0.5883977900552486	485	0.8479020979020979	325	0.4287598944591029	G	0.756	-0.770984	0.02974	0.684294	0.450698	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	3.56	2.6	0.31112	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999919	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	0.40136	-0.9579	8	0.02654	T	1	.	10.8246	0.46625	0.0:0.3716:0.6284:0.0	rs2075322	541;567;567;567	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	E	567;567;292;541;567;567	ENSP00000443426:Q567E;ENSP00000384703:Q567E;ENSP00000228264:Q541E;ENSP00000440402:Q567E;ENSP00000309965:Q567E	ENSP00000228264:Q541E	Q	+	1	0	DDX11	31141128	1.000000	0.71417	0.418000	0.26571	0.770000	0.43624	5.344000	0.65981	0.170000	0.19704	-0.293000	0.09583	CAA	C|0.436;G|0.564	0.564	strong		0.622	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		G	31249861	C	G	31249861	3	3	22	1	0	0	0	0	1	0	0	0	4343	595	21	4	1761	4	DDX11	12	31249861	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2646749	31249861	102602034	6701	11809										
DDX11	1663	hgsc.bcm.edu	37	chr12	31254820	31254820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggtgtggttcctggaggGgtggtctgtttcttcccctc	15	10	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31254820G>A	ENST00000407793.2	+	21	2357	c.2106G>A	c.(2104-2106)ggG>ggA	p.G702G	DDX11_ENST00000350437.4_Intron|DDX11_ENST00000228264.6_Silent_p.G676G|DDX11_ENST00000545668.1_Silent_p.G702G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.G702G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	702					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCTGGAGGGGTGGTCTGTT	0.622										Multiple Myeloma(12;0.14)																											p.G702G		Atlas-SNP	.											DDX11,NS,carcinoma,+2,1	DDX11	188	1	0			c.G2106A						scavenged	.						159	155	156					12																	31254820		1961	4141	6102	SO:0001819	synonymous_variant	1663	exon21			TGGAGGGGTGGTC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2106G>A	12.37:g.31254820G>A		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	239	4	0.0167364	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																			.	.	none		0.622	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31254820	G	A	31254820	2	1	22	1	0	0	0	0	0	0	0	1	4343	1219	43	2		2	DDX11	12	31254820	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4959	31254820	102597075	6702	11810										
DDX11	1663	hgsc.bcm.edu	37	chr12	31256546	31256546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagaaggattttgccagcGtagtgctcctggaccagcga	12	11	0	1	rs1046457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31256546G>A	ENST00000407793.2	+	26	2818	c.2567G>A	c.(2566-2568)cGt>cAt	p.R856H	DDX11_ENST00000350437.4_Missense_Mutation_p.V808I|DDX11_ENST00000228264.6_Missense_Mutation_p.V832I|DDX11_ENST00000545668.1_Missense_Mutation_p.R856H|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.V858I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	856			R -> H (in dbSNP:rs1046457).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTTGCCAGCGTAGTGCTCCT	0.647										Multiple Myeloma(12;0.14)			A|||	3176	0.634185	0.708	0.611	5008	,	,		14475	0.8075		0.4384	False		,,,				2504	0.5736				p.V858I		Atlas-SNP	.											.	DDX11	188	.	0			c.G2572A						PASS	.	A	HIS/ARG,ILE/VAL,ILE/VAL	2845,1557		1010,825,366	26	39	34		2567,2572,2422	3.1	1	12	dbSNP_86	34	3631,4965		886,1859,1553	no	missense,missense,missense	DDX11	NM_152438.1,NM_030653.3,NM_004399.2	29,29,29	1896,2684,1919	AA,AG,GG		42.2406,35.3703,49.823	benign,benign,benign	856/971,858/907,808/857	31256546	6476,6522	2201	4298	6499	SO:0001583	missense	1663	exon26			GCCAGCGTAGTGC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2567G>A	12.37:g.31256546G>A	ENSP00000384703:p.Arg856His	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	164	85	0.518293	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	1165|1165	0.5334249084249084|0.5334249084249084	293|293	0.5955284552845529|0.5955284552845529	193|193	0.5331491712707183|0.5331491712707183	423|423	0.7395104895104895|0.7395104895104895	256|256	0.33773087071240104|0.33773087071240104	A|A	0.021|0.021	-1.427665|-1.427665	0.01117|0.01117	0.646297|0.646297	0.422406|0.422406	ENSG00000013573|ENSG00000013573	ENST00000407793;ENST00000545668|ENST00000542838;ENST00000228264;ENST00000350437	T;T|D;D;D	0.74106|0.90955	-0.81;-0.81|-2.76;-2.76;-2.76	3.14|3.14	3.14|3.14	0.36123|0.36123	Helicase, ATP-dependent, c2 type (1);|.	.|0.646978	.|0.15103	.|N	.|0.280427	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999996408|0.9999999999996408	B|B;B;B	0.02656|0.06786	0.0|0.0;0.001;0.0	B|B;B;B	0.01281|0.01281	0.0|0.0;0.0;0.0	T|T	0.43032|0.43032	-0.9416|-0.9416	7|8	0.46703|0.02654	T|T	0.11|1	.|.	6.4922|6.4922	0.22121|0.22121	0.8746:0.0:0.1254:0.0|0.8746:0.0:0.1254:0.0	rs1046457;rs3177434;rs3186439;rs17415422;rs58379983|rs1046457;rs3177434;rs3186439;rs17415422;rs58379983	856|832;808;858	Q96FC9|Q96FC9-3;Q96FC9-4;Q96FC9-2	DDX11_HUMAN|.;.;.	H|I	856|858;832;808	ENSP00000384703:R856H;ENSP00000440402:R856H|ENSP00000443426:V858I;ENSP00000228264:V832I;ENSP00000309965:V808I	ENSP00000384703:R856H|ENSP00000228264:V832I	R|V	+|+	2|1	0|0	DDX11|DDX11	31147813|31147813	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.179000|0.179000	0.23085|0.23085	2.796000|2.796000	0.47869|0.47869	0.313000|0.313000	0.23062|0.23062	-0.707000|-0.707000	0.03653|0.03653	CGT|GTA	G|0.494;A|0.506	0.506	strong		0.647	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31256546	G	A	31256546	3	1	22	1	0	0	0	0	1	0	0	0	4343	1145	40	1	2670	1	DDX11	12	31256546	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1726	31256546	102595349	6703	11811										
DDX11	1663	hgsc.bcm.edu	37	chr12	31256615	31256615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccggcctggatccgagccCgtgtggaggtcaaagctacc	14	13	1	0	rs3893680		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31256615C>A	ENST00000407793.2	+	26	2887	c.2636C>A	c.(2635-2637)cCg>cAg	p.P879Q	DDX11_ENST00000545668.1_Missense_Mutation_p.P879Q|DDX11_ENST00000350437.4_Missense_Mutation_p.R831S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.R881S|DDX11_ENST00000228264.6_Missense_Mutation_p.R855S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	879					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GATCCGAGCCCGTGTGGAGGT	0.607										Multiple Myeloma(12;0.14)																											p.R881S		Atlas-SNP	.											DDX11,lower_third,carcinoma,-2,1	DDX11	188	1	0			c.C2641A						scavenged	.						71	79	77					12																	31256615		2203	4300	6503	SO:0001583	missense	1663	exon26			CGAGCCCGTGTGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2636C>A	12.37:g.31256615C>A	ENSP00000384703:p.Pro879Gln	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	256	10	0.0390625	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.916|1.916	-0.449442|-0.449442	0.04572|0.04572	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000407793;ENST00000545668|ENST00000542838;ENST00000228264;ENST00000350437	T;T|T;T;T	0.71341|0.80123	-0.56;-0.56|-1.34;-1.25;-1.06	3.14|3.14	2.24|2.24	0.28232|0.28232	.|.	.|1.099370	.|0.07030	.|N	.|0.828301	T|T	0.63070|0.63070	0.2480|0.2480	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	B|B;B;B	0.26845|0.21452	0.161|0.056;0.056;0.056	B|B;B;B	0.19391|0.24394	0.025|0.053;0.049;0.053	T|T	0.55927|0.55927	-0.8063|-0.8063	9|10	0.87932|0.02654	D|T	0|1	.|.	3.6922|3.6922	0.08350|0.08350	0.2415:0.6231:0.0:0.1355|0.2415:0.6231:0.0:0.1355	rs3893680|rs3893680	879|855;831;881	Q96FC9|Q96FC9-3;Q96FC9-4;Q96FC9-2	DDX11_HUMAN|.;.;.	Q|S	879|881;855;831	ENSP00000384703:P879Q;ENSP00000440402:P879Q|ENSP00000443426:R881S;ENSP00000228264:R855S;ENSP00000309965:R831S	ENSP00000384703:P879Q|ENSP00000228264:R855S	P|R	+|+	2|1	0|0	DDX11|DDX11	31147882|31147882	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.053000|0.053000	0.15095|0.15095	1.393000|1.393000	0.34497|0.34497	0.518000|0.518000	0.28383|0.28383	0.430000|0.430000	0.28490|0.28490	CCG|CGT	.	.	weak		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31256615	C	A	31256615	3	1	22	1	0	0	0	0	1	0	0	0	4343	652	23	4	2739	4	DDX11	12	31256615	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69	31256615	102595280	6704	11812										
DDX11	1663	hgsc.bcm.edu	37	chr12	31256905	31256905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagagtgtggagtccagagTgctgccaggacccaggcaca	16	10	0	2	rs1046458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31256905T>C	ENST00000407793.2	+	27	3102	c.2851T>C	c.(2851-2853)Tgc>Cgc	p.C951R	DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.C951R|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	951			C -> R (in dbSNP:rs1046458).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAGTCCAGAGTGCTGCCAGGA	0.592										Multiple Myeloma(12;0.14)			C|||	3197	0.638379	0.708	0.6153	5008	,	,		16557	0.8105		0.4553	False		,,,				2504	0.5716				p.C951R		Atlas-SNP	.											.	DDX11	188	.	0			c.T2851C						PASS	.						19	32	27					12																	31256905		1309	2289	3598	SO:0001583	missense	1663	exon27			CCAGAGTGCTGCC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2851T>C	12.37:g.31256905T>C	ENSP00000384703:p.Cys951Arg	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	136	63	0.463235	NM_001257144	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	1181	0.5407509157509157	301	0.6117886178861789	189	0.5220994475138122	420	0.7342657342657343	271	0.3575197889182058	C	0.031	-1.335212	0.01287	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72725	-0.68;-0.68	1.38	-2.53	0.06326	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.53005	P	3.900000000001125E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	7	.	.	.	.	4.767	0.13137	0.0:0.1951:0.2372:0.5677	rs1046458;rs3175510;rs4031272;rs60595330	951	Q96FC9	DDX11_HUMAN	R	951	ENSP00000384703:C951R;ENSP00000440402:C951R	.	C	+	1	0	DDX11	31148172	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.876000	0.04201	-1.616000	0.01572	-1.518000	0.00936	TGC	T|0.458;C|0.542	0.542	strong		0.592	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		C	31256905	T	C	31256905	3	2	22	1	0	0	0	0	1	0	0	0	4343	1696	59	2	2958	2	DDX11	12	31256905	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	290	31256905	102594990	6705	11813										
DENND5B	160518	hgsc.bcm.edu	37	chr12	31605044	31605044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagttctgcctcttcacaatGcagttttaaatccttgtctt	5	10	4	0	rs1056320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:31605044G>T	ENST00000389082.5	-	5	1723	c.1459C>A	c.(1459-1461)Cat>Aat	p.H487N	DENND5B_ENST00000536562.1_Missense_Mutation_p.H522N|DENND5B_ENST00000354285.4_Missense_Mutation_p.H509N|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.H522N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	487			H -> N (in dbSNP:rs1056320). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTTCACAATGCAGTTTTAAA	0.473													G|||	888	0.177316	0.2284	0.1052	5008	,	,		19727	0.247		0.1233	False		,,,				2504	0.1431				p.H487N		Atlas-SNP	.											.	DENND5B	114	.	0			c.C1459A						PASS	.	G	ASN/HIS	770,3092		77,616,1238	167	167	167		1459	4.7	1	12	dbSNP_86	167	867,7403		54,759,3322	yes	missense	DENND5B	NM_144973.3	68	131,1375,4560	TT,TG,GG		10.4837,19.9379,13.4932	benign	487/1275	31605044	1637,10495	1931	4135	6066	SO:0001583	missense	160518	exon5			CACAATGCAGTTT	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1459C>A	12.37:g.31605044G>T	ENSP00000373734:p.His487Asn	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	229	104	0.454148	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	394	0.1804029304029304	122	0.24796747967479674	42	0.11602209944751381	139	0.243006993006993	91	0.12005277044854881	G	10.69	1.420867	0.25639	0.199379	0.104837	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.67	4.67	0.58626	.	0.346390	0.26804	N	0.022409	T	0.00012	0.0000	N	0.14661	0.345	0.45239	P	0.0017559999999999798	B;B;B;B	0.12630	0.001;0.006;0.0;0.0	B;B;B;B	0.19666	0.001;0.026;0.0;0.001	T	0.19516	-1.0303	9	0.19147	T	0.46	-18.0088	13.191	0.59711	0.0791:0.0:0.9209:0.0	rs1056320;rs3168408;rs16916263;rs52832424;rs58342800;rs1056320	409;509;487;522	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	N	487;522;522;509;439	ENSP00000373734:H487N;ENSP00000306482:H522N;ENSP00000444889:H522N;ENSP00000346238:H509N;ENSP00000442938:H439N	ENSP00000306482:H522N	H	-	1	0	DENND5B	31496311	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.975000	0.70475	2.421000	0.82119	0.563000	0.77884	CAT	G|0.818;T|0.182	0.182	strong		0.473	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		T	31605044	G	T	31605044	3	4	22	1	0	0	0	0	1	0	0	0	4437	1319	46	4	2433	4	DENND5B	12	31605044	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	348139	31605044	102246851	6706	11814										
C12orf35	55196	hgsc.bcm.edu	37	chr12	32134122	32134122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaatttctgtttctgataTgcataatgggacagttgtgg	10	5	2	1	rs75434030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32134122T>C	ENST00000312561.4	+	4	647	c.233T>C	c.(232-234)aTg>aCg	p.M78T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	78																	GTTTCTGATATGCATAATGGG	0.373													T|||	33	0.00658946	0.0242	0.0014	5008	,	,		22474	0.0		0.0	False		,,,				2504	0.0				p.M78T		Atlas-SNP	.											.	.	.	.	0			c.T233C						PASS	.	T	THR/MET	109,4297	84.8+/-123.5	1,107,2095	85	83	83		233	-1.3	0	12	dbSNP_131	83	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C12orf35	NM_018169.3	81	1,108,6394	CC,CT,TT		0.0116,2.4739,0.8458	possibly-damaging	78/1748	32134122	110,12896	2203	4300	6503	SO:0001583	missense	55196	exon4			CTGATATGCATAA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.233T>C	12.37:g.32134122T>C	ENSP00000310338:p.Met78Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	168	91	0.541667	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	T	10.56	1.385451	0.25031	0.024739	1.16E-4	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.09073	3.02;3.02	5.39	-1.28	0.09318	.	0.664905	0.14503	N	0.315631	T	0.01976	0.0062	L	0.29908	0.895	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.40720	-0.9548	9	.	.	.	.	1.6516	0.02773	0.1117:0.2639:0.2202:0.4042	.	78	Q9HCM1	CL035_HUMAN	T	78	ENSP00000310338:M78T;ENSP00000370442:M78T	.	M	+	2	0	C12orf35	32025389	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.467000	0.06664	-0.141000	0.11374	0.528000	0.53228	ATG	T|0.995;C|0.005	0.005	strong		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32134122	T	C	32134122	3	2	22	1	0	0	0	0	1	0	0	0	1682	1464	51	2	235	2	C12orf35	12	32134122	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	529078	32134122	101717773	6707	11815										
C12orf35	55196	hgsc.bcm.edu	37	chr12	32137852	32137852	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaagcttctcaggaaacCcgacagaagaaacatgtaac	8	10	1	2	rs3759297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32137852C>G	ENST00000312561.4	+	4	4377	c.3963C>G	c.(3961-3963)acC>acG	p.T1321T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1321																	CTCAGGAAACCCGACAGAAGA	0.363													C|||	729	0.145567	0.1014	0.1282	5008	,	,		20068	0.0833		0.1879	False		,,,				2504	0.2382				p.T1321T		Atlas-SNP	.											C12orf35,NS,lymphoid_neoplasm,+1,1	.	.	1	0			c.C3963G						PASS	.	C		501,3905	232.0+/-245.7	25,451,1727	88	92	91		3963	-4.3	0	12	dbSNP_107	91	1747,6853	317.4+/-313.2	171,1405,2724	no	coding-synonymous	C12orf35	NM_018169.3		196,1856,4451	GG,GC,CC		20.314,11.3709,17.2843		1321/1748	32137852	2248,10758	2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			GGAAACCCGACAG	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3963C>G	12.37:g.32137852C>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			C|0.840;G|0.160	0.160	strong		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32137852	C	G	32137852	2	3	22	1	0	0	0	0	0	0	0	1	1682	610	22	4		4	C12orf35	12	32137852	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3730	32137852	101714043	6708	11816										
DNM1L	10059	hgsc.bcm.edu	37	chr12	32854366	32854366	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcagcggaaagagctcAgtgctagaaagcctggtggg	16	8	1	3	rs10844308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32854366A>C	ENST00000549701.1	+	2	194	c.120A>C	c.(118-120)tcA>tcC	p.S40S	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Silent_p.S40S|DNM1L_ENST00000266481.6_Silent_p.S40S|DNM1L_ENST00000381000.4_Silent_p.S40S|DNM1L_ENST00000547312.1_Silent_p.S40S|DNM1L_ENST00000358214.5_Silent_p.S40S|DNM1L_ENST00000452533.2_Silent_p.S40S|DNM1L_ENST00000414834.2_5'UTR			O00429	DNM1L_HUMAN	dynamin 1-like	40	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAGAGCTCAGTGCTAGAAA	0.423													a|||	634	0.126597	0.177	0.0937	5008	,	,		14408	0.0813		0.161	False		,,,				2504	0.093				p.S40S		Atlas-SNP	.											.	DNM1L	52	.	0			c.A120C						PASS	.		,,	721,3685	297.3+/-284.7	57,607,1539	66	72	70		120,120,120	0.2	1	12	dbSNP_120	70	1248,7352	250.1+/-277.1	105,1038,3157	no	coding-synonymous,coding-synonymous,coding-synonymous	DNM1L	NM_005690.3,NM_012062.3,NM_012063.2	,,	162,1645,4696	CC,CA,AA		14.5116,16.364,15.1392	,,	40/700,40/737,40/711	32854366	1969,11037	2203	4300	6503	SO:0001819	synonymous_variant	10059	exon2			GAGCTCAGTGCTA	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.120A>C	12.37:g.32854366A>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	82	47	0.573171	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																			A|0.858;C|0.142	0.142	strong		0.423	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		C	32854366	A	C	32854366	2	2	22	1	0	0	0	0	0	0	0	1	4671	175	7	5		5	DNM1L	12	32854366	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	716514	32854366	100997529	6709	11817										
DNM1L	10059	hgsc.bcm.edu	37	chr12	32860302	32860302	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtttttcttttttccaggGgtggaagcagaagaatgggg	15	4	1	2	rs2272238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32860302G>A	ENST00000549701.1	+	3	326	c.252G>A	c.(250-252)ggG>ggA	p.G84G	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Splice_Site_p.G97G|DNM1L_ENST00000266481.6_Splice_Site_p.G84G|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000381000.4_Splice_Site_p.G97G|DNM1L_ENST00000547312.1_Splice_Site_p.G84G|DNM1L_ENST00000358214.5_Splice_Site_p.G97G|DNM1L_ENST00000452533.2_Splice_Site_p.G84G|DNM1L_ENST00000414834.2_Splice_Site_p.G29E			O00429	DNM1L_HUMAN	dynamin 1-like	84	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTTTTCCAGGGGTGGAAGCAG	0.284													G|||	721	0.14397	0.2103	0.1037	5008	,	,		14724	0.0833		0.164	False		,,,				2504	0.1247				p.G84G		Atlas-SNP	.											.	DNM1L	52	.	0			c.G252A						PASS	.	G	,,	861,3543	329.6+/-301.1	79,703,1420	89	92	91		252,252,252	-3.5	1	12	dbSNP_100	91	1251,7323	248.6+/-276.2	102,1047,3138	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DNM1L	NM_005690.3,NM_012062.3,NM_012063.2	,,	181,1750,4558	AA,AG,GG		14.5906,19.5504,16.2737	,,	84/700,84/737,84/711	32860302	2112,10866	2202	4287	6489	SO:0001630	splice_region_variant	10059	exon3			TCCAGGGGTGGAA	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.251-1G>A	12.37:g.32860302G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	167	167	1	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1	306	0.1401098901098901	108	0.21951219512195122	37	0.10220994475138122	41	0.07167832167832168	120	0.158311345646438	G	15.65	2.895173	0.52121	0.195504	0.145906	ENSG00000087470	ENST00000414834	D	0.95447	-3.71	4.81	-3.54	0.04653	.	0.295993	0.19558	U	0.111387	T	0.00328	0.0010	.	.	.	0.44432	P	0.0026439999999999797	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	8	0.87932	D	0	.	2.0606	0.03591	0.2703:0.219:0.3991:0.1115	rs2272238;rs2272238	29	B4DGC9	.	E	29	ENSP00000404160:G29E	ENSP00000404160:G29E	G	+	2	0	DNM1L	32751569	0.125000	0.22332	0.993000	0.49108	0.998000	0.95712	-0.519000	0.06260	-0.090000	0.12462	0.650000	0.86243	GGG	G|0.839;A|0.161	0.161	strong		0.284	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	Silent	A	32860302	G	A	32860302	5	1	22	1	0	0	0	0	0	0	1	0	4671	1246	43	2	262	2	DNM1L	12	32860302	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5936	32860302	100991593	6710	11818										
DNM1L	10059	hgsc.bcm.edu	37	chr12	32875406	32875406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttaccagagttgaaaacAagaataaatgttctagctgc	8	6	1	3	rs10844318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32875406A>G	ENST00000549701.1	+	9	992	c.918A>G	c.(916-918)acA>acG	p.T306T	DNM1L_ENST00000553257.1_Silent_p.T319T|DNM1L_ENST00000266481.6_Silent_p.T306T|DNM1L_ENST00000381000.4_Silent_p.T319T|DNM1L_ENST00000547312.1_Silent_p.T306T|DNM1L_ENST00000358214.5_Silent_p.T319T|DNM1L_ENST00000452533.2_Silent_p.T306T|DNM1L_ENST00000414834.2_Silent_p.T103T			O00429	DNM1L_HUMAN	dynamin 1-like	306	GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTTGAAAACAAGAATAAATG	0.348													A|||	634	0.126597	0.177	0.0937	5008	,	,		16993	0.0813		0.161	False		,,,				2504	0.093				p.T306T		Atlas-SNP	.											.	DNM1L	52	.	0			c.A918G						PASS	.	A	,,	721,3685	294.1+/-283.0	57,607,1539	69	66	67		918,918,918	-2.5	1	12	dbSNP_120	67	1248,7352	249.0+/-276.5	105,1038,3157	no	coding-synonymous,coding-synonymous,coding-synonymous	DNM1L	NM_005690.3,NM_012062.3,NM_012063.2	,,	162,1645,4696	GG,GA,AA		14.5116,16.364,15.1392	,,	306/700,306/737,306/711	32875406	1969,11037	2203	4300	6503	SO:0001819	synonymous_variant	10059	exon9			GAAAACAAGAATA	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.918A>G	12.37:g.32875406A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	126	56	0.444444	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																			A|0.859;G|0.141	0.141	strong		0.348	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		G	32875406	A	G	32875406	2	3	22	1	0	0	0	0	0	0	0	1	4671	117	5	2		2	DNM1L	12	32875406	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15104	32875406	100976489	6711	11819										
YARS2	51067	hgsc.bcm.edu	37	chr12	32908237	32908237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgtccccatgcggaagtgaCcccccactgccgccaggaag	12	17	0	1	rs11539445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32908237C>A	ENST00000324868.8	-	1	599	c.572G>T	c.(571-573)gGt>gTt	p.G191V		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	191			G -> V (in dbSNP:rs11539445). {ECO:0000269|PubMed:10810093}.		gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GCGGAAGTGACCCCCCACTGC	0.637											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	634	0.126597	0.177	0.0937	5008	,	,		16266	0.0833		0.162	False		,,,				2504	0.09				p.G191V		Atlas-SNP	.											.	YARS2	33	.	0			c.G572T						PASS	.	C	VAL/GLY	714,3692	279.9+/-275.1	54,606,1543	51	56	55		572	4.2	1	12	dbSNP_120	55	1231,7369	238.8+/-270.1	104,1023,3173	yes	missense	YARS2	NM_001040436.2	109	158,1629,4716	AA,AC,CC		14.314,16.2052,14.9546	probably-damaging	191/478	32908237	1945,11061	2203	4300	6503	SO:0001583	missense	51067	exon1			AAGTGACCCCCCA	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.572G>T	12.37:g.32908237C>A	ENSP00000320658:p.Gly191Val	Somatic	82	0	0	836	WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_001040436	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	279	0.12774725274725274	86	0.17479674796747968	33	0.09116022099447514	41	0.07167832167832168	119	0.15699208443271767	C	15.93	2.978490	0.53720	0.162052	0.14314	ENSG00000139131	ENST00000324868	T	0.51071	0.72	5.09	4.2	0.49525	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.058780	0.64402	D	0.000001	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	P	0.9999999854493	P	0.38078	0.617	B	0.34722	0.188	T	0.09422	-1.0675	9	0.72032	D	0.01	-16.2261	11.5881	0.50931	0.1398:0.7255:0.1347:0.0	rs11539445;rs60431927	191	Q9Y2Z4	SYYM_HUMAN	V	191	ENSP00000320658:G191V	ENSP00000320658:G191V	G	-	2	0	YARS2	32799504	0.221000	0.23642	0.999000	0.59377	0.947000	0.59692	4.211000	0.58507	1.384000	0.46424	0.644000	0.83932	GGT	C|0.856;A|0.144	0.144	strong		0.637	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		A	32908237	C	A	32908237	3	1	22	1	0	0	0	0	1	0	0	0	17465	507	18	4	881	4	YARS2	12	32908237	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32831	32908237	100943658	6712	11820										
YARS2	51067	hgsc.bcm.edu	37	chr12	32908518	32908518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcgctgcaaatgaaacagGcccagcagcgcaagtagatg	12	11	0	2	rs11539444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:32908518G>A	ENST00000324868.8	-	1	318	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	97					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATGAAACAGGCCCAGCAGCG	0.637											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	636	0.126997	0.177	0.0937	5008	,	,		16417	0.0833		0.162	False		,,,				2504	0.092				p.G97G		Atlas-SNP	.											.	YARS2	33	.	0			c.C291T						PASS	.	G		724,3682	295.6+/-283.7	58,608,1537	45	49	48		291	1.9	1	12	dbSNP_120	48	1249,7351	248.9+/-276.4	104,1041,3155	no	coding-synonymous	YARS2	NM_001040436.2		162,1649,4692	AA,AG,GG		14.5233,16.4321,15.1699		97/478	32908518	1973,11033	2203	4300	6503	SO:0001819	synonymous_variant	51067	exon1			AAACAGGCCCAGC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.291C>T	12.37:g.32908518G>A		Somatic	79	0	0	836	WXS	Illumina HiSeq	Phase_I	76	39	0.513158	NM_001040436	D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	CCDS31770.1																																																																																			G|0.854;A|0.146	0.146	strong		0.637	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		A	32908518	G	A	32908518	2	1	22	1	0	0	0	0	0	0	0	1	17465	1190	42	2		2	YARS2	12	32908518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	281	32908518	100943377	6713	11821										
PKP2	5318	hgsc.bcm.edu	37	chr12	33031023	33031023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcccgacagtgagccctGccgtcaggtagttctccttc	10	16	2	1	rs62001016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:33031023G>A	ENST00000070846.6	-	3	815	c.791C>T	c.(790-792)gCa>gTa	p.A264V	PKP2_ENST00000340811.4_Missense_Mutation_p.A264V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	264					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTGAGCCCTGCCGTCAGGTA	0.647													G|||	58	0.0115815	0.0408	0.0058	5008	,	,		18240	0.0		0.0	False		,,,				2504	0.0				p.A264V		Atlas-SNP	.											.	PKP2	110	.	0			c.C791T						PASS	.	G	VAL/ALA,VAL/ALA	137,4269	96.7+/-135.4	1,135,2067	52	48	49		791,791	3.8	0	12	dbSNP_129	49	0,8600		0,0,4300	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	64,64	1,135,6367	AA,AG,GG		0.0,3.1094,1.0534	benign,benign	264/838,264/882	33031023	137,12869	2203	4300	6503	SO:0001583	missense	5318	exon3			AGCCCTGCCGTCA	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.791C>T	12.37:g.33031023G>A	ENSP00000070846:p.Ala264Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	47	0.484536	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	G	1.719	-0.497156	0.04291	0.031094	0.0	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.81163	-1.46;-1.39	4.73	3.84	0.44239	.	5.091870	0.00357	N	0.000025	T	0.42944	0.1225	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19200	0.034;0.02;0.006	B;B;B	0.21708	0.036;0.016;0.01	T	0.49862	-0.8894	10	0.21540	T	0.41	-14.3867	10.8315	0.46663	0.0896:0.0:0.9104:0.0	.	264;264;264	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	264	ENSP00000342800:A264V;ENSP00000070846:A264V	ENSP00000070846:A264V	A	-	2	0	PKP2	32922290	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.892000	0.28322	0.994000	0.38892	0.650000	0.86243	GCA	G|0.988;A|0.012	0.012	strong		0.647	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	33031023	G	A	33031023	3	1	22	1	0	0	0	0	1	0	0	0	11985	1319	46	2	1902	2	PKP2	12	33031023	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	122505	33031023	100820872	6714	11822										
KIF21A	55605	hgsc.bcm.edu	37	chr12	39734066	39734066	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcatgttctttttgagcTgcttgaagtctctgcagttc	9	9	2	2	rs150241656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:39734066T>G	ENST00000361418.5	-	16	2226	c.2211A>C	c.(2209-2211)gcA>gcC	p.A737A	KIF21A_ENST00000361961.3_Silent_p.A724A|KIF21A_ENST00000395670.3_Silent_p.A737A|KIF21A_ENST00000544797.2_Silent_p.A724A|KIF21A_ENST00000541463.2_Silent_p.A724A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	737					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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTTTTTGAGCTGCTTGAAGTC	0.363													T|||	6	0.00119808	0.0045	0.0	5008	,	,		18446	0.0		0.0	False		,,,				2504	0.0				p.A737A		Atlas-SNP	.											.	KIF21A	238	.	0			c.A2211C						PASS	.	T	,,,	31,4375	36.8+/-68.6	0,31,2172	125	109	114		2172,2211,2172,2172	-4	0.8	12	dbSNP_134	114	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	,,,	0,31,6470	GG,GT,TT		0.0,0.7036,0.2384	,,,	724/1638,737/1675,724/1622,724/1662	39734066	31,12971	2203	4298	6501	SO:0001819	synonymous_variant	55605	exon16			TTGAGCTGCTTGA	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2211A>C	12.37:g.39734066T>G		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	269	136	0.505576	NM_001173464	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	10.31	1.314750	0.23908	0.007036	0.0	ENSG00000139116	ENST00000552961	.	.	.	5.22	-4.01	0.04045	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40327	-0.9569	4	.	.	.	.	5.0229	0.14370	0.5061:0.2038:0.0:0.2901	.	.	.	.	P	85	.	.	Q	-	2	0	KIF21A	38020333	0.026000	0.19158	0.768000	0.31515	0.987000	0.75469	-1.450000	0.02390	-0.615000	0.05679	0.533000	0.62120	CAG	T|0.998;G|0.002	0.002	strong		0.363	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		G	39734066	T	G	39734066	2	3	22	1	0	0	0	0	0	0	0	1	8288	1567	55	5		5	KIF21A	12	39734066	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6703043	39734066	94117829	6715	11823										
C12orf40	283461	hgsc.bcm.edu	37	chr12	40085906	40085906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcaagcgaatatctactaAgaaaatctgtcagtataact	6	7	3	1	rs73270414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:40085906A>T	ENST00000324616.5	+	11	1557	c.1403A>T	c.(1402-1404)aAg>aTg	p.K468M	C12orf40_ENST00000405531.3_Missense_Mutation_p.K468M	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	468										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATATCTACTAAGAAAATCTGT	0.244													A|||	650	0.129792	0.0658	0.098	5008	,	,		13634	0.1766		0.162	False		,,,				2504	0.1575				p.K468M		Atlas-SNP	.											C12orf40,fourth_ventricle,glioma,0,1	C12orf40	118	1	0			c.A1403T						PASS	.	A	MET/LYS	277,3257		11,255,1501	28	26	27		1403	1.7	0.4	12	dbSNP_130	27	1306,6626		108,1090,2768	yes	missense	C12orf40	NM_001031748.2	95	119,1345,4269	TT,TA,AA		16.465,7.8381,13.806	benign	468/653	40085906	1583,9883	1767	3966	5733	SO:0001583	missense	283461	exon11			CTACTAAGAAAAT	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1403A>T	12.37:g.40085906A>T	ENSP00000317671:p.Lys468Met	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	128	78	0.609375	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	281	0.12866300366300365	29	0.05894308943089431	40	0.11049723756906077	97	0.16958041958041958	115	0.1517150395778364	A	4.175	0.031040	0.08101	0.078381	0.16465	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.53206	0.63;0.72	2.84	1.66	0.24008	.	0.915548	0.09122	N	0.845588	T	0.00109	0.0003	N	0.24115	0.695	0.33319	P	0.432906	B	0.16603	0.018	B	0.20767	0.031	T	0.12760	-1.0535	9	0.38643	T	0.18	.	5.995	0.19489	0.7306:0.2694:0.0:0.0	.	468	Q86WS4	CL040_HUMAN	M	468	ENSP00000383897:K468M;ENSP00000317671:K468M	ENSP00000317671:K468M	K	+	2	0	C12orf40	38372173	0.046000	0.20272	0.429000	0.26710	0.178000	0.23041	0.308000	0.19314	0.475000	0.27415	0.379000	0.24179	AAG	A|0.858;T|0.142	0.142	strong		0.244	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40085906	A	T	40085906	3	4	22	1	0	0	0	0	1	0	0	0	1686	72	3	5	1445	5	C12orf40	12	40085906	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	351840	40085906	93765989	6716	11824										
LRRK2	120892	hgsc.bcm.edu	37	chr12	40657700	40657700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtcctagcagctttgaaCagggtatgttgaatataagt	11	6	0	2	rs7308720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:40657700C>G	ENST00000298910.7	+	14	1711	c.1653C>G	c.(1651-1653)aaC>aaG	p.N551K	LRRK2_ENST00000343742.2_Missense_Mutation_p.N551K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	551			N -> K (in dbSNP:rs7308720). {ECO:0000269|PubMed:16172858, ECO:0000269|PubMed:16251215, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:22415848}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGCTTTGAACAGGGTATGTT	0.323													C|||	498	0.0994409	0.1278	0.1614	5008	,	,		15444	0.1042		0.0636	False		,,,				2504	0.0491				p.N551K		Atlas-SNP	.											.	LRRK2	763	.	0			c.C1653G						PASS	.	C	LYS/ASN	609,3797	265.0+/-266.4	38,533,1632	74	78	76	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1653	2.7	1	12	dbSNP_116	76	621,7975	159.5+/-212.8	23,575,3700	yes	missense	LRRK2	NM_198578.3	94	61,1108,5332	GG,GC,CC		7.2243,13.8221,9.4601	probably-damaging	551/2528	40657700	1230,11772	2203	4298	6501	SO:0001583	missense	120892	exon14			TTTGAACAGGGTA	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1653C>G	12.37:g.40657700C>G	ENSP00000298910:p.Asn551Lys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	118	59	0.5	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	221	0.10119047619047619	65	0.13211382113821138	51	0.1408839779005525	54	0.0944055944055944	51	0.06728232189973615	C	17.76	3.468331	0.63625	0.138221	0.072243	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.58210	0.35;0.35;0.35	5.9	2.69	0.31865	Armadillo-like helical (1);Armadillo-type fold (1);	0.046651	0.85682	D	0.000000	T	0.00875	0.0029	M	0.61703	1.905	0.26842	P	0.9683462	P;D	0.89917	0.884;1.0	B;D	0.71184	0.326;0.972	T	0.32188	-0.9916	9	0.54805	T	0.06	.	9.8726	0.41185	0.0:0.7425:0.0:0.2575	rs7308720;rs17490831;rs36223899;rs56469962;rs7308720	551;551	E9PC85;Q5S007	.;LRRK2_HUMAN	K	299;551;551	ENSP00000398726:N299K;ENSP00000341930:N551K;ENSP00000298910:N551K	ENSP00000298910:N551K	N	+	3	2	LRRK2	38943967	0.997000	0.39634	1.000000	0.80357	0.901000	0.52897	0.224000	0.17738	0.849000	0.35215	0.650000	0.86243	AAC	C|0.897;G|0.103	0.103	strong		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40657700	C	G	40657700	3	3	22	1	0	0	0	0	1	0	0	0	9033	477	17	4	1707	4	LRRK2	12	40657700	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	571794	40657700	93194195	6717	11825										
PDZRN4	29951	hgsc.bcm.edu	37	chr12	41900463	41900463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggctctggccaagcttcGtccacctacccctccagtgc	8	18	1	0	rs35577124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:41900463G>A	ENST00000402685.2	+	4	1057	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R90H|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R92H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	350							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCAAGCTTCGTCCACCTACC	0.493													G|||	586	0.117013	0.2269	0.1383	5008	,	,		20154	0.1736		0.001	False		,,,				2504	0.0143				p.R350H		Atlas-SNP	.											PDZRN4_ENST00000402685,NS,malignant_melanoma,+1,2	PDZRN4	346	2	0			c.G1049A						scavenged	.	G	HIS/ARG,HIS/ARG	846,3560	333.6+/-303.0	87,672,1444	163	136	145		1049,275	2.2	0.2	12	dbSNP_126	145	12,8588	7.1+/-27.0	0,12,4288	yes	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	29,29	87,684,5732	AA,AG,GG		0.1395,19.2011,6.597	possibly-damaging,possibly-damaging	350/1037,92/779	41900463	858,12148	2203	4300	6503	SO:0001583	missense	29951	exon4			AGCTTCGTCCACC	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1049G>A	12.37:g.41900463G>A	ENSP00000384197:p.Arg350His	Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	151	62	0.410596	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	240	0.10989010989010989	111	0.22560975609756098	46	0.1270718232044199	83	0.1451048951048951	0	0.0	G	13.23	2.176068	0.38413	0.192011	0.001395	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73363	-0.74;3.74;3.74	5.08	2.18	0.27775	.	1.544220	0.05000	N	0.468870	T	0.00178	0.0005	M	0.73598	2.24	0.22954	P	0.99851589	D;P;P	0.89917	1.0;0.945;0.872	D;B;B	0.79784	0.993;0.301;0.396	T	0.06661	-1.0814	9	0.66056	D	0.02	-25.004	10.4928	0.44760	0.2219:0.0:0.7781:0.0	rs35577124	350;90;92	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	H	350;92;90	ENSP00000384197:R350H;ENSP00000439990:R92H;ENSP00000298919:R90H	ENSP00000298919:R90H	R	+	2	0	PDZRN4	40186730	0.997000	0.39634	0.156000	0.22583	0.421000	0.31385	4.856000	0.62932	0.360000	0.24265	-0.986000	0.02555	CGT	G|0.921;A|0.079	0.079	strong		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41900463	G	A	41900463	3	1	22	1	0	0	0	0	1	0	0	0	11710	1145	40	1	1136	1	PDZRN4	12	41900463	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1242763	41900463	91951432	6718	11826										
PDZRN4	29951	hgsc.bcm.edu	37	chr12	41966699	41966699	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacattgcatgatggaggAttccggaattataacaccag	11	7	0	1	rs78683283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:41966699A>G	ENST00000402685.2	+	10	2126	c.2118A>G	c.(2116-2118)ggA>ggG	p.G706G	PDZRN4_ENST00000298919.7_Silent_p.G446G|PDZRN4_ENST00000539469.2_Silent_p.G448G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	706							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGATGGAGGATTCCGGAATT	0.443													A|||	140	0.0279553	0.0378	0.0086	5008	,	,		22417	0.0585		0.0139	False		,,,				2504	0.0112				p.G706G		Atlas-SNP	.											.	PDZRN4	346	.	0			c.A2118G						PASS	.	A	,	191,4215	121.7+/-159.2	7,177,2019	99	100	99		2118,1344	-3.1	1	12	dbSNP_131	99	123,8477	64.2+/-126.4	1,121,4178	no	coding-synonymous,coding-synonymous	PDZRN4	NM_001164595.1,NM_013377.3	,	8,298,6197	GG,GA,AA		1.4302,4.335,2.4143	,	706/1037,448/779	41966699	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	29951	exon10			TGGAGGATTCCGG	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2118A>G	12.37:g.41966699A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	91	48	0.527473	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																			A|0.974;G|0.026	0.026	strong		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		G	41966699	A	G	41966699	2	3	22	1	0	0	0	0	0	0	0	1	11710	320	12	2		2	PDZRN4	12	41966699	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66236	41966699	91885196	6719	11827										
PRICKLE1	144165	hgsc.bcm.edu	37	chr12	42862431	42862431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgaacttttttttacctcGtcacatgctgagcaccgtgg	9	10	1	2	rs74081707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:42862431G>A	ENST00000455697.1	-	5	870	c.585C>T	c.(583-585)gaC>gaT	p.D195D	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Silent_p.D195D|PRICKLE1_ENST00000552240.1_Silent_p.D195D|PRICKLE1_ENST00000445766.2_Silent_p.D195D|PRICKLE1_ENST00000548696.1_Silent_p.D195D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	195	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTTTTACCTCGTCACATGCTG	0.403													G|||	153	0.0305511	0.1097	0.0115	5008	,	,		20234	0.0		0.0	False		,,,				2504	0.0				p.D195D		Atlas-SNP	.											.	PRICKLE1	105	.	0			c.C585T						PASS	.	G	,,,	477,3929	223.9+/-240.3	23,431,1749	82	82	82		585,585,585,585	-6.4	0.9	12	dbSNP_130	82	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRICKLE1	NM_001144881.1,NM_001144882.1,NM_001144883.1,NM_153026.2	,,,	23,434,6046	AA,AG,GG		0.0349,10.8261,3.6906	,,,	195/832,195/832,195/832,195/832	42862431	480,12526	2203	4300	6503	SO:0001819	synonymous_variant	144165	exon5			TACCTCGTCACAT	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.585C>T	12.37:g.42862431G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	81	45	0.555556	NM_001144882	Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	CCDS8742.1																																																																																			G|0.967;A|0.033	0.033	strong		0.403	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			A	42862431	G	A	42862431	2	1	22	1	0	0	0	0	0	0	0	1	12486	1136	40	1		1	PRICKLE1	12	42862431	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	895732	42862431	90989464	6720	11828										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43769228	43769228	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcttattttgctgaaaacAgtgtatccagcagctaagtg	8	7	1	1	rs10506226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:43769228A>C	ENST00000389420.3	-	36	5399	c.5400T>G	c.(5398-5400)acT>acG	p.T1800T		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1800	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAAAACAGTGTATCCAG	0.338													A|||	1114	0.222444	0.4213	0.1239	5008	,	,		17947	0.1002		0.1998	False		,,,				2504	0.1728				p.T1800T		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.T5400G						PASS	.	A		1633,2773	500.1+/-364.6	310,1013,880	137	133	134		5400	-3.6	0.2	12	dbSNP_119	134	1768,6832	319.5+/-314.2	182,1404,2714	no	coding-synonymous	ADAMTS20	NM_025003.3		492,2417,3594	CC,CA,AA		20.5581,37.0631,26.1495		1800/1911	43769228	3401,9605	2203	4300	6503	SO:0001819	synonymous_variant	80070	exon36			GAAAACAGTGTAT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5400T>G	12.37:g.43769228A>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	122	75	0.614754	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			A|0.790;C|0.210	0.210	strong		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769228	A	C	43769228	2	2	22	1	0	0	0	0	0	0	0	1	266	175	7	5		5	ADAMTS20	12	43769228	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	906797	43769228	90082667	6721	11829										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43769276	43769276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacattcacagtcttccctTctactcccattaaaaggaca	3	14	4	0	rs10880473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:43769276T>C	ENST00000389420.3	-	36	5351	c.5352A>G	c.(5350-5352)agA>agG	p.R1784R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1784	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCTTCCCTTCTACTCCCAT	0.348													C|||	1121	0.223842	0.4266	0.1239	5008	,	,		18065	0.1002		0.1998	False		,,,				2504	0.1728				p.R1784R		Atlas-SNP	.											ADAMTS20_ENST00000389420,neck,malignant_melanoma,-2,1	ADAMTS20	635	1	0			c.A5352G						PASS	.	C		1647,2759	659.9+/-400.6	316,1015,872	156	153	154		5352	2	1	12	dbSNP_120	154	1768,6832	734.1+/-406.9	182,1404,2714	no	coding-synonymous	ADAMTS20	NM_025003.3		498,2419,3586	CC,CT,TT		20.5581,37.3808,26.2571		1784/1911	43769276	3415,9591	2203	4300	6503	SO:0001819	synonymous_variant	80070	exon36			TTCCCTTCTACTC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5352A>G	12.37:g.43769276T>C		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	131	75	0.572519	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			T|0.747;C|0.253	0.253	strong		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769276	T	C	43769276	2	2	22	1	0	0	0	0	0	0	0	1	266	1780	62	2		2	ADAMTS20	12	43769276	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48	43769276	90082619	6722	11830										
PUS7L	83448	hgsc.bcm.edu	37	chr12	44130205	44130205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttactatttgggaaattctcGtcatcaatgtcttcatccaa	5	9	5	0	rs12309260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:44130205G>A	ENST00000416848.2	-	7	2192	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	PUS7L_ENST00000551923.1_Silent_p.D568D|PUS7L_ENST00000344862.5_Silent_p.D568D|PUS7L_ENST00000431332.3_Silent_p.D255D	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	568	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GGAAATTCTCGTCATCAATGT	0.373													G|||	61	0.0121805	0.0431	0.0043	5008	,	,		18654	0.0		0.001	False		,,,				2504	0.0				p.D568D		Atlas-SNP	.											.	PUS7L	73	.	0			c.C1704T						PASS	.	G	,,	178,4228	115.4+/-153.4	2,174,2027	158	146	150		1704,1704,1704	-5.5	0	12	dbSNP_120	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	,,	2,176,6325	AA,AG,GG		0.0233,4.0399,1.384	,,	568/702,568/702,568/702	44130205	180,12826	2203	4300	6503	SO:0001819	synonymous_variant	83448	exon7			ATTCTCGTCATCA	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1704C>T	12.37:g.44130205G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	96	52	0.541667	NM_001098614	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	CCDS8743.1																																																																																			G|0.988;A|0.012	0.012	strong		0.373	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		A	44130205	G	A	44130205	2	1	22	1	0	0	0	0	0	0	0	1	12834	1136	40	1		1	PUS7L	12	44130205	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	360929	44130205	89721690	6723	11831										
IRAK4	51135	hgsc.bcm.edu	37	chr12	44180295	44180295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgattccacttcagttgaaGctatgtactctgttgctagt	8	9	2	2	rs4251545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:44180295G>A	ENST00000448290.2	+	11	1353	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	IRAK4_ENST00000431837.1_Missense_Mutation_p.A304T|IRAK4_ENST00000551736.1_Missense_Mutation_p.A428T|IRAK4_ENST00000440781.2_Missense_Mutation_p.A304T	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs4251545). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.5}.		cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCAGTTGAAGCTATGTACTC	0.284													g|||	854	0.170527	0.3169	0.1455	5008	,	,		13391	0.127		0.0865	False		,,,				2504	0.1217				p.A428T		Atlas-SNP	.											.	IRAK4	77	.	0			c.G1282A						PASS	.	A	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1200,3206	407.8+/-334.4	154,892,1157	68	79	75		1282,910,910,910,1282	-0.3	0.1	12	dbSNP_111	75	847,7743	190.8+/-237.2	35,777,3483	yes	missense,missense,missense,missense,missense	IRAK4	NM_001114182.2,NM_001145256.1,NM_001145257.1,NM_001145258.1,NM_016123.3	58,58,58,58,58	189,1669,4640	AA,AG,GG		9.8603,27.2356,15.751	benign,benign,benign,benign,benign	428/461,304/337,304/337,304/337,428/461	44180295	2047,10949	2203	4295	6498	SO:0001583	missense	51135	exon11			GTTGAAGCTATGT	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1282G>A	12.37:g.44180295G>A	ENSP00000390651:p.Ala428Thr	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	132	78	0.590909	NM_016123	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	328	0.15018315018315018	160	0.3252032520325203	51	0.1408839779005525	55	0.09615384615384616	62	0.08179419525065963	g	8.196	0.797029	0.16327	0.272356	0.098603	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.02	-0.286	0.12862	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.615280	0.18370	N	0.143300	T	0.00012	0.0000	L	0.37630	1.12	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.24333	-1.0163	9	0.35671	T	0.21	-0.8847	7.4103	0.27014	0.6553:0.1054:0.2393:0.0	rs4251545;rs52833385;rs57239220;rs4251545	428	Q9NWZ3	IRAK4_HUMAN	T	304;304;428;428	ENSP00000408734:A304T;ENSP00000390327:A304T;ENSP00000390651:A428T;ENSP00000446490:A428T	ENSP00000390327:A304T	A	+	1	0	IRAK4	42466562	0.972000	0.33761	0.062000	0.19696	0.991000	0.79684	0.757000	0.26433	-0.274000	0.09232	-0.127000	0.14921	GCT	G|0.843;A|0.157	0.157	strong		0.284	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			A	44180295	G	A	44180295	3	1	22	1	0	0	0	0	1	0	0	0	7825	971	34	2	1320	2	IRAK4	12	44180295	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50090	44180295	89671600	6724	11832										
ARID2	196528	hgsc.bcm.edu	37	chr12	46245077	46245077	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctgcctctggtgagtcGagtctgattaaacagcttct	10	11	3	2	rs7296694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:46245077G>A	ENST00000334344.6	+	15	3343	c.3171G>A	c.(3169-3171)tcG>tcA	p.S1057S	ARID2_ENST00000444670.1_Silent_p.S667S|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Silent_p.S908S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1057	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGGTGAGTCGAGTCTGATTA	0.493			"N, S, F"		hepatocellular carcinoma								G|||	501	0.10004	0.3442	0.0202	5008	,	,		22635	0.004		0.001	False		,,,				2504	0.0276				p.S1057S		Atlas-SNP	.		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	ARID2	311	.	0			c.G3171A						PASS	.	G		1229,3177	426.4+/-341.1	182,865,1156	148	131	137		3171	-11.8	0	12	dbSNP_116	137	9,8591	6.4+/-24.3	0,9,4291	yes	coding-synonymous	ARID2	NM_152641.2		182,874,5447	AA,AG,GG		0.1047,27.8938,9.5187		1057/1836	46245077	1238,11768	2203	4300	6503	SO:0001819	synonymous_variant	196528	exon15			TGAGTCGAGTCTG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3171G>A	12.37:g.46245077G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	120	58	0.483333	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																			G|0.905;A|0.095	0.095	strong		0.493	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		A	46245077	G	A	46245077	2	1	22	1	0	0	0	0	0	0	0	1	915	1045	37	1		1	ARID2	12	46245077	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2064782	46245077	87606818	6725	11833										
SFRS2IP	9169	hgsc.bcm.edu	37	chr12	46321417	46321417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtagatctaggatgttcGgtcagcgattcattcttttc	9	8	5	1	rs11574971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:46321417G>A	ENST00000369367.3	-	11	2300	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	SCAF11_ENST00000549162.1_Silent_p.T497T|SCAF11_ENST00000465950.1_Silent_p.T374T|SCAF11_ENST00000419565.2_Silent_p.T689T|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	689					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGGATGTTCGGTCAGCGATT	0.318													G|||	549	0.109625	0.3775	0.0259	5008	,	,		13728	0.004		0.002	False		,,,				2504	0.0266				p.T689T		Atlas-SNP	.											.	SCAF11	145	.	0			c.C2067T						PASS	.	G		1384,3022	457.5+/-351.6	235,914,1054	160	162	161		2067	1.9	0	12	dbSNP_120	161	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	SCAF11	NM_004719.2		235,928,5340	AA,AG,GG		0.1628,31.4117,10.7489		689/1464	46321417	1398,11608	2203	4300	6503	SO:0001819	synonymous_variant	9169	exon11			ATGTTCGGTCAGC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2067C>T	12.37:g.46321417G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_004719	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																			G|0.894;A|0.106	0.106	strong		0.318	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		A	46321417	G	A	46321417	2	1	22	1	0	0	0	0	0	0	0	1	14177	1103	39	1		1	SFRS2IP	12	46321417	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76340	46321417	87530478	6726	11834										
SFRS2IP	9169	hgsc.bcm.edu	37	chr12	46339033	46339033	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcaaaaagtaacttactAtgtatccacttcaagtcaca	4	10	2	0	rs11183245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:46339033A>G	ENST00000369367.3	-	6	695	c.462T>C	c.(460-462)caT>caC	p.H154H	SCAF11_ENST00000419565.2_Splice_Site_p.H154H	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	154					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTAACTTACTATGTATCCACT	0.318													A|||	66	0.0131789	0.0477	0.0029	5008	,	,		17740	0.0		0.001	False		,,,				2504	0.0				p.H154H		Atlas-SNP	.											.	SCAF11	145	.	0			c.T462C						PASS	.	A		167,3485		4,159,1663	111	105	107		462	-1.8	0	12	dbSNP_120	107	0,8134		0,0,4067	yes	coding-synonymous-near-splice	SCAF11	NM_004719.2		4,159,5730	GG,GA,AA		0.0,4.5728,1.4169		154/1464	46339033	167,11619	1826	4067	5893	SO:0001630	splice_region_variant	9169	exon6			CTTACTATGTATC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.463+1T>C	12.37:g.46339033A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	90	42	0.466667	NM_004719	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																			A|0.972;G|0.028	0.028	strong		0.318	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	Silent	G	46339033	A	G	46339033	5	3	22	1	0	0	0	0	0	0	1	0	14177	463	16	2	3969	2	SFRS2IP	12	46339033	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17616	46339033	87512862	6727	11835										
FAM113B	91523	hgsc.bcm.edu	37	chr12	47629179	47629179	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgaaagagctgcagtcGggcgagcacgcccccgacct	12	14	1	2	rs79990001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:47629179G>T	ENST00000546455.1	+	4	1064	c.333G>T	c.(331-333)tcG>tcT	p.S111S	PCED1B_ENST00000432328.1_Silent_p.S111S|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	111							hydrolase activity (GO:0016787)										AGCTGCAGTCGGGCGAGCACG	0.572													G|||	122	0.024361	0.0877	0.0072	5008	,	,		17862	0.0		0.001	False		,,,				2504	0.0				p.S111S		Atlas-SNP	.											FAM113B,rectum,carcinoma,+1,1	.	.	1	0			c.G333T						PASS	.	G		310,4096	167.3+/-198.3	8,294,1901	104	116	112		333	-8.4	0	12	dbSNP_132	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM113B	NM_138371.1		8,295,6200	TT,TG,GG		0.0116,7.0359,2.3912		111/433	47629179	311,12695	2203	4300	6503	SO:0001819	synonymous_variant	91523	exon2			GCAGTCGGGCGAG	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.333G>T	12.37:g.47629179G>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	45	25	0.555556	NM_138371	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																			G|0.974;T|0.026	0.026	strong		0.572	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629179	G	T	47629179	2	4	22	1	0	0	0	0	0	0	0	1	5402	1103	39	4		4	FAM113B	12	47629179	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1290146	47629179	86222716	6728	11836										
FAM113B	91523	hgsc.bcm.edu	37	chr12	47629368	47629368	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggcgaggaagtcaccggGggttttcttccgcccaagct	15	11	2	0	rs2244818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:47629368G>T	ENST00000546455.1	+	4	1253	c.522G>T	c.(520-522)ggG>ggT	p.G174G	PCED1B_ENST00000432328.1_Silent_p.G174G|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	174							hydrolase activity (GO:0016787)										AAGTCACCGGGGGTTTTCTTC	0.602													G|||	742	0.148163	0.1846	0.1081	5008	,	,		15708	0.12		0.1759	False		,,,				2504	0.1278				p.G174G		Atlas-SNP	.											.	.	.	.	0			c.G522T						PASS	.	G		776,3630		59,658,1486	36	35	35		522	-4.3	0	12	dbSNP_100	35	1392,7208		106,1180,3014	no	coding-synonymous	FAM113B	NM_138371.1		165,1838,4500	TT,TG,GG		16.186,17.6123,16.6692		174/433	47629368	2168,10838	2203	4300	6503	SO:0001819	synonymous_variant	91523	exon2			CACCGGGGGTTTT	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.522G>T	12.37:g.47629368G>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	41	19	0.463415	NM_138371	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																			G|0.835;T|0.165	0.165	strong		0.602	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629368	G	T	47629368	2	4	22	1	0	0	0	0	0	0	0	1	5402	1219	43	4		4	FAM113B	12	47629368	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	189	47629368	86222527	6729	11837										
RPAP3	79657	hgsc.bcm.edu	37	chr12	48075597	48075597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtctttttcagcttcttcAtatctattgaacatgataaa	4	8	5	2	rs36123489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48075597A>G	ENST00000005386.3	-	10	1111	c.996T>C	c.(994-996)taT>taC	p.Y332Y	RPAP3_ENST00000380650.4_Silent_p.Y332Y|RPAP3_ENST00000432584.3_Silent_p.Y173Y	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	332										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					CAGCTTCTTCATATCTATTGA	0.313													A|||	224	0.0447284	0.1566	0.0231	5008	,	,		18004	0.0		0.001	False		,,,				2504	0.0				p.Y332Y		Atlas-SNP	.											.	RPAP3	45	.	0			c.T996C						PASS	.	A	,,	647,3757	277.8+/-273.9	49,549,1604	61	59	59		996,519,996	1.9	1	12	dbSNP_126	59	12,8584	8.4+/-32.0	0,12,4286	no	coding-synonymous,coding-synonymous,coding-synonymous	RPAP3	NM_001146075.1,NM_001146076.1,NM_024604.2	,,	49,561,5890	GG,GA,AA		0.1396,14.6912,5.0692	,,	332/632,173/507,332/666	48075597	659,12341	2202	4298	6500	SO:0001819	synonymous_variant	79657	exon10			TTCTTCATATCTA	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.996T>C	12.37:g.48075597A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_024604	B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	CCDS8753.1																																																																																			A|0.952;G|0.048	0.048	strong		0.313	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		G	48075597	A	G	48075597	2	3	22	1	0	0	0	0	0	0	0	1	13543	224	8	2		2	RPAP3	12	48075597	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	446229	48075597	85776298	6730	11838										
ENDOU	8909	hgsc.bcm.edu	37	chr12	48110150	48110150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatctctctgaggaaggcGtcctgctcggccagctcctg	12	13	2	2	rs61734364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48110150G>A	ENST00000422538.3	-	6	806	c.684C>T	c.(682-684)gaC>gaT	p.D228D	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Silent_p.D165D|ENDOU_ENST00000229003.3_Silent_p.D187D|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	228					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TGAGGAAGGCGTCCTGCTCGG	0.592											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	109	0.0217652	0.0756	0.0101	5008	,	,		17569	0.001		0.001	False		,,,				2504	0.0				p.D228D		Atlas-SNP	.											.	ENDOU	39	.	0			c.C684T						PASS	.	G	,,	344,4062	180.5+/-208.7	12,320,1871	136	124	128		684,495,561	-9.6	0	12	dbSNP_129	128	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ENDOU	NM_001172439.1,NM_001172440.1,NM_006025.3	,,	12,323,6168	AA,AG,GG		0.0349,7.8075,2.668	,,	228/411,165/348,187/370	48110150	347,12659	2203	4300	6503	SO:0001819	synonymous_variant	8909	exon6			GAAGGCGTCCTGC	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.684C>T	12.37:g.48110150G>A		Somatic	193	0	0	952	WXS	Illumina HiSeq	Phase_I	204	93	0.455882	NM_001172439	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Silent	SNP	ENST00000422538.3	37	CCDS53785.1																																																																																			A|0.024;G|0.975;T|0.000	0.024	strong		0.592	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		A	48110150	G	A	48110150	2	1	22	1	0	0	0	0	0	0	0	1	5116	1136	40	1		1	ENDOU	12	48110150	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34553	48110150	85741745	6731	11839										
RAPGEF3	10411	hgsc.bcm.edu	37	chr12	48134768	48134768	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggtccttggcactcaccAggtccagcccctcagcagag	10	17	2	1	rs80097705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48134768A>T	ENST00000449771.2	-	20	2067	c.1979T>A	c.(1978-1980)cTg>cAg	p.L660Q	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L618Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L569Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.L618Q|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L660Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L618Q			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	660					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGCACTCACCAGGTCCAGCCC	0.657													A|||	149	0.0297524	0.1059	0.0115	5008	,	,		15902	0.0		0.001	False		,,,				2504	0.0				p.L660Q		Atlas-SNP	.											.	RAPGEF3	98	.	0			c.T1979A						PASS	.	A	GLN/LEU,GLN/LEU,GLN/LEU	441,3965	204.5+/-226.7	16,409,1778	28	26	27		1979,1853,1853	2.8	1	12	dbSNP_131	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	RAPGEF3	NM_001098531.2,NM_001098532.2,NM_006105.5	113,113,113	16,412,6075	TT,TA,AA		0.0349,10.0091,3.4138	benign,benign,benign	660/924,618/882,618/882	48134768	444,12562	2203	4300	6503	SO:0001583	missense	10411	exon20			CTCACCAGGTCCA	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1979T>A	12.37:g.48134768A>T	ENSP00000395708:p.Leu660Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	134	61	0.455224	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	64	0.029304029304029304	60	0.12195121951219512	4	0.011049723756906077	0	0.0	0	0.0	A	15.33	2.801075	0.50315	0.100091	3.49E-4	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	4.0	2.85	0.33270	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.318780	0.26567	N	0.023652	T	0.00271	0.0008	N	0.25332	0.735	0.25580	P	0.9868038	B	0.13145	0.007	B	0.15484	0.013	T	0.05007	-1.0912	9	0.52906	T	0.07	.	7.9374	0.29937	0.898:0.0:0.102:0.0	.	660	O95398	RPGF3_HUMAN	Q	618;660;307;618;618;618;660;623;569	ENSP00000384521:L618Q;ENSP00000395708:L660Q;ENSP00000448619:L618Q;ENSP00000171000:L618Q;ENSP00000373864:L660Q;ENSP00000448480:L569Q	ENSP00000171000:L618Q	L	-	2	0	RAPGEF3	46421035	0.352000	0.24895	1.000000	0.80357	0.997000	0.91878	1.101000	0.31037	1.609000	0.50190	0.459000	0.35465	CTG	A|0.965;T|0.035	0.035	strong		0.657	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		T	48134768	A	T	48134768	3	4	22	1	0	0	0	0	1	0	0	0	13045	188	7	5	828	5	RAPGEF3	12	48134768	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24618	48134768	85717127	6732	11840										
RAPGEF3	10411	hgsc.bcm.edu	37	chr12	48151822	48151822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgggctatcctccacagCcaggcccacctgccagcagc	10	18	0	0	rs11168230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48151822C>G	ENST00000449771.2	-	2	134	c.46G>C	c.(46-48)Gct>Cct	p.A16P	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A16P|RAPGEF3_ENST00000171000.4_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A16P|SLC48A1_ENST00000547002.1_5'Flank			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	16			A -> P (in dbSNP:rs11168230). {ECO:0000269|PubMed:15489334}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCCTCCACAGCCAGGCCCACC	0.657													C|||	1487	0.296925	0.2988	0.2709	5008	,	,		16982	0.2004		0.335	False		,,,				2504	0.3732				p.A16P		Atlas-SNP	.											.	RAPGEF3	98	.	0			c.G46C						PASS	.	C	PRO/ALA,,	1187,3177		185,817,1180	13	14	14		46,,	2	0.9	12	dbSNP_120	14	2586,5970		408,1770,2100	no	missense,utr-5,utr-5	RAPGEF3	NM_001098531.2,NM_001098532.2,NM_006105.5	27,,	593,2587,3280	GG,GC,CC		30.2244,27.1998,29.2028	possibly-damaging,,	16/924,,	48151822	3773,9147	2182	4278	6460	SO:0001583	missense	10411	exon2			CCACAGCCAGGCC	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.46G>C	12.37:g.48151822C>G	ENSP00000395708:p.Ala16Pro	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	108	55	0.509259	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	611	0.27976190476190477	138	0.2804878048780488	103	0.2845303867403315	122	0.21328671328671328	248	0.32717678100263853	C	16.11	3.029273	0.54790	0.271998	0.302244	ENSG00000079337	ENST00000449771;ENST00000389212;ENST00000397089;ENST00000395358	T;T;T	0.62498	0.02;0.02;0.02	5.12	1.99	0.26369	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.22240	P	0.999267639	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.0;0.004;0.001	T	0.26430	-1.0103	8	0.30078	T	0.28	.	4.294	0.10892	0.0:0.5898:0.1857:0.2245	rs11168230;rs11168230	28;16;16	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	P	16;16;28;16	ENSP00000395708:A16P;ENSP00000373864:A16P;ENSP00000378764:A16P	ENSP00000373864:A16P	A	-	1	0	RAPGEF3	46438089	0.037000	0.19845	0.918000	0.36340	0.989000	0.77384	0.843000	0.27640	0.540000	0.28808	0.591000	0.81541	GCT	C|0.721;G|0.279	0.279	strong		0.657	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		G	48151822	C	G	48151822	3	3	22	1	0	0	0	0	1	0	0	0	13045	739	26	4	2833	4	RAPGEF3	12	48151822	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17054	48151822	85700073	6733	11841										
HDAC7	51564	hgsc.bcm.edu	37	chr12	48185449	48185449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgccgctcagagtggaccGactgcagctcttccagggag	14	13	2	1	rs73291234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48185449G>A	ENST00000427332.2	-	15	1892	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	HDAC7_ENST00000354334.3_Missense_Mutation_p.S581L|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.S601L|HDAC7_ENST00000380610.4_Missense_Mutation_p.S635L|HDAC7_ENST00000080059.7_Missense_Mutation_p.S618L			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	579	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGAGTGGACCGACTGCAGCTC	0.632													G|||	51	0.0101837	0.0356	0.0058	5008	,	,		13311	0.0		0.0	False		,,,				2504	0.0				p.S618L		Atlas-SNP	.											.	HDAC7	71	.	0			c.C1853T						PASS	.	G	LEU/SER,LEU/SER	134,4272	96.2+/-134.9	4,126,2073	41	43	42		1742,1853	3.5	0.8	12	dbSNP_130	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	HDAC7	NM_001098416.2,NM_015401.3	145,145	4,127,6372	AA,AG,GG		0.0116,3.0413,1.038	possibly-damaging,possibly-damaging	581/955,618/992	48185449	135,12871	2203	4300	6503	SO:0001583	missense	51564	exon15			TGGACCGACTGCA	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1736C>T	12.37:g.48185449G>A	ENSP00000404394:p.Ser579Leu	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	172	79	0.459302	NM_015401	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		17|17	0.007783882783882784|0.007783882783882784	15|15	0.03048780487804878|0.03048780487804878	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.73|16.73	3.204615|3.204615	0.58234|0.58234	0.030413|0.030413	1.16E-4|1.16E-4	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	5.3|5.3	3.48|3.48	0.39840|0.39840	.|.	.|0.194140	.|0.45606	.|N	.|0.000346	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02539|0.02539	-0.55|-0.55	0.45295|0.45295	D|D	0.998291|0.998291	.|D;D;D	.|0.59767	.|0.963;0.986;0.978	.|B;P;B	.|0.48627	.|0.209;0.584;0.398	T|T	0.07654|0.07654	-1.0761|-1.0761	5|10	.|0.21540	.|T	.|0.41	.|.	7.5367|7.5367	0.27714|0.27714	0.1551:0.1369:0.708:0.0|0.1551:0.1369:0.708:0.0	.|.	.|618;601;581	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	W|L	59|618;581;601;635;579	.|ENSP00000080059:S618L;ENSP00000351326:S581L;ENSP00000448532:S601L;ENSP00000369984:S635L;ENSP00000404394:S579L	.|ENSP00000080059:S618L	R|S	-|-	1|2	2|0	HDAC7|HDAC7	46471716|46471716	1.000000|1.000000	0.71417|0.71417	0.765000|0.765000	0.31456|0.31456	0.970000|0.970000	0.65996|0.65996	5.572000|5.572000	0.67411|0.67411	0.759000|0.759000	0.33084|0.33084	-0.261000|-0.261000	0.10672|0.10672	CGG|TCG	G|0.989;A|0.011	0.011	strong		0.632	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			A	48185449	G	A	48185449	3	1	22	1	0	0	0	0	1	0	0	0	7012	1059	37	1	1170	1	HDAC7	12	48185449	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33627	48185449	85666446	6734	11842										
C12orf68	387856	hgsc.bcm.edu	37	chr12	48577925	48577925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggaggacggtctgctggAgatcatgaccaaggacggcg	16	8	2	2	rs140861476		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48577925A>G	ENST00000316554.3	+	1	560	c.20A>G	c.(19-21)gAg>gGg	p.E7G		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		7						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGTCTGCTGGAGATCATGACC	0.706																																					p.E7G		Atlas-SNP	.											.	C12orf68	11	.	0			c.A20G						PASS	.	A	GLY/GLU	3,4403		0,3,2200	28	36	33		20	4.9	1	12	dbSNP_134	33	0,8598		0,0,4299	no	missense	C12orf68	NM_001013635.3	98	0,3,6499	GG,GA,AA		0.0,0.0681,0.0231	benign	7/195	48577925	3,13001	2203	4299	6502	SO:0001583	missense	387856	exon1			TGCTGGAGATCAT																												ENST00000316554.3:c.20A>G	12.37:g.48577925A>G	ENSP00000320849:p.Glu7Gly	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	22	0.468085	NM_001013635	Q96MK5|Q96N39	Missense_Mutation	SNP	ENST00000316554.3	37	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623833	0.46840	6.81E-4	0.0	ENSG00000177875	ENST00000316554	T	0.57273	0.41	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000075	T	0.50939	0.1645	N	0.08118	0	0.35002	D	0.756066	D	0.76494	0.999	D	0.78314	0.991	T	0.66304	-0.5957	10	0.87932	D	0	-21.6442	10.8402	0.46710	1.0:0.0:0.0:0.0	.	7	Q52MB2	CL068_HUMAN	G	7	ENSP00000320849:E7G	ENSP00000320849:E7G	E	+	2	0	C12orf68	46864192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.151000	0.58105	2.049000	0.60858	0.491000	0.48974	GAG	A|1.000;G|0.000	0.000	weak		0.706	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1			G	48577925	A	G	48577925	3	3	22	1	0	0	0	0	1	0	0	0	1710	304	11	3	22	3	C12orf68	12	48577925	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	392476	48577925	85273970	6735	11843										
OR8S1	341568	hgsc.bcm.edu	37	chr12	48919793	48919793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaccgccatgctgccatcTgccgcccactactttatgga	8	15	1	1	rs2705143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:48919793T>C	ENST00000310194.1	+	1	379	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	127				C -> R (in Ref. 1; BAC05832). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCTGCCATCTGCCGCCCACT	0.542													T|||	1277	0.254992	0.3419	0.1585	5008	,	,		20153	0.248		0.168	False		,,,				2504	0.3027				p.C127R		Atlas-SNP	.											.	OR8S1	47	.	0			c.T379C						PASS	.	T	ARG/CYS	1214,3192	422.1+/-339.6	163,888,1152	132	120	124		379	3.9	1	12	dbSNP_100	124	1529,7071	288.1+/-298.6	130,1269,2901	no	missense	OR8S1	NM_001005203.2	180	293,2157,4053	CC,CT,TT		17.7791,27.5533,21.0903	possibly-damaging	127/360	48919793	2743,10263	2203	4300	6503	SO:0001583	missense	341568	exon1			GCCATCTGCCGCC		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.379T>C	12.37:g.48919793T>C	ENSP00000310632:p.Cys127Arg	Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	206	206	1	NM_001005203		Missense_Mutation	SNP	ENST00000310194.1	37	CCDS31789.1	486	0.22252747252747251	173	0.3516260162601626	64	0.17679558011049723	127	0.22202797202797203	122	0.16094986807387862	T	13.17	2.156350	0.38021	0.275533	0.177791	ENSG00000197376	ENST00000310194	T	0.06218	3.33	5.03	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000415	T	0.00012	0.0000	H	0.94542	3.55	0.19300	P	0.9999782305	B	0.22080	0.064	B	0.27262	0.078	T	0.16217	-1.0410	9	0.66056	D	0.02	-51.5792	8.8554	0.35225	0.0:0.0888:0.0:0.9112	rs2705143	127	Q8NH09	OR8S1_HUMAN	R	127	ENSP00000310632:C127R	ENSP00000310632:C127R	C	+	1	0	OR8S1	47206060	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.736000	0.38187	0.939000	0.37446	0.533000	0.62120	TGC	T|0.781;C|0.219	0.219	strong		0.542	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			C	48919793	T	C	48919793	3	2	22	1	0	0	0	0	1	0	0	0	11246	1580	55	3	381	3	OR8S1	12	48919793	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	341868	48919793	84932102	6736	11844										
CCDC65	85478	hgsc.bcm.edu	37	chr12	49308261	49308261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacttgcacaatgttgaCcagctcttggccctgcagag	10	13	1	2	rs143088014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49308261C>T	ENST00000320516.4	+	3	563	c.375C>T	c.(373-375)gaC>gaT	p.D125D	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.D125D	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	125										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACAATGTTGACCAGCTCTTGG	0.537													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0				p.D125D		Atlas-SNP	.											.	CCDC65	41	.	0			c.C375T						PASS	.	C		15,4391	22.3+/-47.3	0,15,2188	85	74	78		375	1.2	1	12	dbSNP_134	78	1,8599		0,1,4299	no	coding-synonymous	CCDC65	NM_033124.4		0,16,6487	TT,TC,CC		0.0116,0.3404,0.123		125/485	49308261	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	85478	exon3			TGTTGACCAGCTC		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.375C>T	12.37:g.49308261C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	25	0.373134	NM_033124	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	CCDS8772.1																																																																																			C|0.999;T|0.001	0.001	strong		0.537	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		T	49308261	C	T	49308261	2	4	22	1	0	0	0	0	0	0	0	1	2837	506	18	2		2	CCDC65	12	49308261	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	388468	49308261	84543634	6737	11845										
CCDC65	85478	hgsc.bcm.edu	37	chr12	49310831	49310831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatggagcagaactatatAgattctgagtatgaaagcaa	10	6	1	4	rs140228766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49310831A>G	ENST00000320516.4	+	4	737	c.549A>G	c.(547-549)atA>atG	p.I183M	CCDC65_ENST00000266984.5_Missense_Mutation_p.I183M|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	183										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAACTATATAGATTCTGAGT	0.433													A|||	8	0.00159744	0.0053	0.0014	5008	,	,		21739	0.0		0.0	False		,,,				2504	0.0				p.I183M		Atlas-SNP	.											.	CCDC65	41	.	0			c.A549G						PASS	.	A	MET/ILE	15,4391	22.3+/-47.3	0,15,2188	107	95	99		549	-3.4	0	12	dbSNP_134	99	1,8599		0,1,4299	yes	missense	CCDC65	NM_033124.4	10	0,16,6487	GG,GA,AA		0.0116,0.3404,0.123	benign	183/485	49310831	16,12990	2203	4300	6503	SO:0001583	missense	85478	exon4			CTATATAGATTCT		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.549A>G	12.37:g.49310831A>G	ENSP00000312706:p.Ile183Met	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	175	68	0.388571	NM_033124	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	CCDS8772.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	11.22	1.573482	0.28092	0.003404	1.16E-4	ENSG00000139537	ENST00000266984;ENST00000320516	T;T	0.02472	4.28;4.28	5.32	-3.4	0.04853	.	0.540717	0.18922	N	0.127459	T	0.01454	0.0047	L	0.44542	1.39	0.21220	N	0.999755	B	0.02656	0.0	B	0.06405	0.002	T	0.40059	-0.9583	10	0.46703	T	0.11	-3.8361	1.8254	0.03119	0.4013:0.2222:0.2683:0.1081	.	183	Q8IXS2	CCD65_HUMAN	M	183	ENSP00000266984:I183M;ENSP00000312706:I183M	ENSP00000266984:I183M	I	+	3	3	CCDC65	47597098	0.000000	0.05858	0.049000	0.19019	0.979000	0.70002	-0.846000	0.04336	-0.658000	0.05366	-0.274000	0.10170	ATA	A|0.999;G|0.001	0.001	strong		0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		G	49310831	A	G	49310831	3	3	22	1	0	0	0	0	1	0	0	0	2837	410	15	3	563	3	CCDC65	12	49310831	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2570	49310831	84541064	6738	11846										
FKBP11	51303	hgsc.bcm.edu	37	chr12	49315821	49315821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagcttctttttggagacTttgggtctattggcctttct	10	7	3	2	rs148302547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49315821T>C	ENST00000550765.1	-	6	950	c.552A>G	c.(550-552)aaA>aaG	p.K184K	FKBP11_ENST00000444214.2_Silent_p.K82K|AC073610.5_ENST00000537495.1_3'UTR|RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	184					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						TTTTGGAGACTTTGGGTCTAT	0.403													T|||	8	0.00159744	0.0053	0.0014	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0				p.K184K		Atlas-SNP	.											FKBP11,colon,carcinoma,-1,1	FKBP11	12	1	0			c.A552G						PASS	.	T	,	15,4391	15.5+/-35.6	0,15,2188	90	91	91		246,552	4.7	1	12	dbSNP_134	91	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	FKBP11	NM_001143781.1,NM_016594.2	,	0,16,6487	CC,CT,TT		0.0116,0.3404,0.123	,	82/100,184/202	49315821	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	51303	exon6			GGAGACTTTGGGT	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.552A>G	12.37:g.49315821T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_016594	B4DWB7	Silent	SNP	ENST00000550765.1	37	CCDS8773.1																																																																																			T|0.999;C|0.001	0.001	strong		0.403	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		C	49315821	T	C	49315821	2	2	22	1	0	0	0	0	0	0	0	1	5903	1606	56	3		3	FKBP11	12	49315821	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4990	49315821	84536074	6739	11847										
MLL2	8085	hgsc.bcm.edu	37	chr12	49433356	49433356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcctgccgcagggtgttGcgctggatctgctgccgaat	13	12	2	0	rs116686402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49433356G>A	ENST00000301067.7	-	32	8090	c.8091C>T	c.(8089-8091)cgC>cgT	p.R2697R	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2697					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGGGTGTTGCGCTGGATCT	0.587													G|||	93	0.0185703	0.0696	0.0014	5008	,	,		18946	0.0		0.0	False		,,,				2504	0.0				p.R2697R		Atlas-SNP	.											.	MLL2	1173	.	0			c.C8091T						PASS	.	G		239,3787		8,223,1782	17	19	18		8091	0.2	1	12	dbSNP_132	18	2,8382		0,2,4190	no	coding-synonymous	MLL2	NM_003482.3		8,225,5972	AA,AG,GG		0.0239,5.9364,1.942		2697/5538	49433356	241,12169	2013	4192	6205	SO:0001819	synonymous_variant	8085	exon32			GGTGTTGCGCTGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8091C>T	12.37:g.49433356G>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	43	17	0.395349	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			G|0.986;A|0.014	0.014	strong		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49433356	G	A	49433356	2	1	22	1	0	0	0	0	0	0	0	1	9621	1306	46	2		2	MLL2	12	49433356	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117535	49433356	84418539	6740	11848										
MLL2	8085	hgsc.bcm.edu	37	chr12	49437753	49437753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctaagctctgctccacggcGccctctgcaggcaggtcagc	12	16	3	0	rs111924728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49437753G>A	ENST00000301067.7	-	22	5216	c.5217C>T	c.(5215-5217)ggC>ggT	p.G1739G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1739					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCACGGCGCCCTCTGCAG	0.562											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	104	0.0207668	0.0696	0.0014	5008	,	,		20550	0.0		0.0	False		,,,				2504	0.0112				p.G1739G		Atlas-SNP	.											.	MLL2	1173	.	0			c.C5217T						PASS	.	G		261,4001		8,245,1878	137	140	139		5217	1.6	0.5	12	dbSNP_132	139	3,8483		0,3,4240	no	coding-synonymous	MLL2	NM_003482.3		8,248,6118	AA,AG,GG		0.0354,6.1239,2.0709		1739/5538	49437753	264,12484	2131	4243	6374	SO:0001819	synonymous_variant	8085	exon22			CACGGCGCCCTCT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5217C>T	12.37:g.49437753G>A		Somatic	123	0	0	962	WXS	Illumina HiSeq	Phase_I	97	42	0.43299	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			G|0.986;A|0.014	0.014	strong		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49437753	G	A	49437753	2	1	22	1	0	0	0	0	0	0	0	1	9621	1074	38	1		1	MLL2	12	49437753	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4397	49437753	84414142	6741	11849										
MLL2	8085	hgsc.bcm.edu	37	chr12	49446040	49446040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcaggaagtggggatgCgggcaattcctcaggtggtg	17	8	2	0	rs1064210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49446040C>T	ENST00000301067.7	-	10	1425	c.1426G>A	c.(1426-1428)Gca>Aca	p.A476T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	476	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		A -> T (in dbSNP:rs1064210).		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTGGGGATGCGGGCAATTCC	0.647													C|||	443	0.0884585	0.3154	0.0202	5008	,	,		16514	0.0		0.001	False		,,,				2504	0.0112				p.A476T		Atlas-SNP	.											.	MLL2	1173	.	0			c.G1426A						PASS	.	C	THR/ALA	1173,3107		157,859,1124	94	105	101		1426	-0.8	0	12	dbSNP_86	101	14,8434		0,14,4210	yes	missense	MLL2	NM_003482.3	58	157,873,5334	TT,TC,CC		0.1657,27.4065,9.3259	benign	476/5538	49446040	1187,11541	2140	4224	6364	SO:0001583	missense	8085	exon10			GGGATGCGGGCAA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1426G>A	12.37:g.49446040C>T	ENSP00000301067:p.Ala476Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	133	65	0.488722	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	159	0.07280219780219781	152	0.3089430894308943	6	0.016574585635359115	1	0.0017482517482517483	0	0.0	C	0.034	-1.318316	0.01320	0.274065	0.001657	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	1.5	-0.819	0.10829	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15930	0.015	B	0.10450	0.005	T	0.12604	-1.0541	8	0.87932	D	0	.	0.5031	0.00583	0.2468:0.3228:0.2447:0.1857	rs1064210;rs1064210	476	O14686	MLL2_HUMAN	T	476	ENSP00000301067:A476T	ENSP00000301067:A476T	A	-	1	0	MLL2	47732307	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-2.296000	0.01142	-0.247000	0.09597	0.313000	0.20887	GCA	C|0.937;T|0.063	0.063	strong		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49446040	C	T	49446040	3	4	22	1	0	0	0	0	1	0	0	0	9621	768	27	1	15367	1	MLL2	12	49446040	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8287	49446040	84405855	6742	11850										
LMBR1L	55716	hgsc.bcm.edu	37	chr12	49498635	49498635	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagcaggacagcacccagGgcaattgccagggtaaaggt	15	9	0	0	rs141166526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49498635G>T	ENST00000267102.8	-	4	567	c.225C>A	c.(223-225)gcC>gcA	p.A75A	LMBR1L_ENST00000395141.4_Silent_p.A70A|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Silent_p.A75A	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	75	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGCACCCAGGGCAATTGCCA	0.587													G|||	22	0.00439297	0.0166	0.0	5008	,	,		22882	0.0		0.0	False		,,,				2504	0.0				p.A75A		Atlas-SNP	.											LMBR1L_ENST00000267102,colon,carcinoma,-1,2	LMBR1L	61	2	0			c.C225A						PASS	.	G		50,4356	48.9+/-83.8	0,50,2153	108	78	88		225	5.2	1	12	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	LMBR1L	NM_018113.2		0,50,6453	TT,TG,GG		0.0,1.1348,0.3844		75/490	49498635	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	55716	exon4			ACCCAGGGCAATT	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.225C>A	12.37:g.49498635G>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	67	33	0.492537	NM_018113	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																			G|0.996;T|0.004	0.004	strong		0.587	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		T	49498635	G	T	49498635	2	4	22	1	0	0	0	0	0	0	0	1	8841	1219	43	4		4	LMBR1L	12	49498635	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52595	49498635	84353260	6743	11851										
TUBA1B	10376	hgsc.bcm.edu	37	chr12	49522238	49522238	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggtgatctctgctacagAaagctgttcatggtaggctt	11	7	2	2	rs199895521		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49522238A>T	ENST00000336023.5	-	4	953	c.859T>A	c.(859-861)Tct>Act	p.S287T	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	287					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TCTGCTACAGAAAGCTGTTCA	0.527																																					p.S287T		Atlas-SNP	.											TUBA1B,bladder,carcinoma,0,1	TUBA1B	24	1	0			c.T859A						scavenged	.						14	16	15					12																	49522238		2165	4231	6396	SO:0001583	missense	10376	exon4			CTACAGAAAGCTG	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.859T>A	12.37:g.49522238A>T	ENSP00000336799:p.Ser287Thr	Somatic	516	0	0		WXS	Illumina HiSeq	Phase_I	694	183	0.263689	NM_006082	P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	a	10.92	1.487232	0.26686	.	.	ENSG00000123416	ENST00000336023	D	0.83591	-1.74	5.41	4.26	0.50523	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.139910	0.28146	U	0.016435	T	0.73063	0.3539	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64854	-0.6309	10	0.29301	T	0.29	.	10.4421	0.44472	0.9218:0.0:0.0782:0.0	.	287	P68363	TBA1B_HUMAN	T	287	ENSP00000336799:S287T	ENSP00000336799:S287T	S	-	1	0	TUBA1B	47808505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.845000	0.69437	0.908000	0.36671	0.524000	0.50904	TCT	A|0.998;T|0.002	0.002	weak		0.527	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		T	49522238	A	T	49522238	3	4	22	1	0	0	0	0	1	0	0	0	16741	246	9	5	500	5	TUBA1B	12	49522238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23603	49522238	84329657	6744	11852										
KCNH3	23416	hgsc.bcm.edu	37	chr12	49937813	49937813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgctggatgtcatcgcAgcgctgccctttgacctgct	10	14	1	1	rs1150057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49937813A>G	ENST00000257981.6	+	6	1199	c.939A>G	c.(937-939)gcA>gcG	p.A313A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	313					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ATGTCATCGCAGCGCTGCCCT	0.617													G|||	1323	0.264177	0.59	0.1571	5008	,	,		15693	0.1002		0.1799	False		,,,				2504	0.1554				p.A313A		Atlas-SNP	.											.	KCNH3	88	.	0			c.A939G						PASS	.	G		2242,2164	582.8+/-385.7	566,1110,527	195	157	170		939	-10.4	0	12	dbSNP_87	170	1450,7150	751.3+/-407.4	127,1196,2977	no	coding-synonymous	KCNH3	NM_012284.1		693,2306,3504	GG,GA,AA		16.8605,49.1148,28.3869		313/1084	49937813	3692,9314	2203	4300	6503	SO:0001819	synonymous_variant	23416	exon6			CATCGCAGCGCTG	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.939A>G	12.37:g.49937813A>G		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_012284	Q9UQ06	Silent	SNP	ENST00000257981.6	37	CCDS8786.1																																																																																			A|0.729;G|0.271	0.271	strong		0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		G	49937813	A	G	49937813	2	3	22	1	0	0	0	0	0	0	0	1	8033	175	7	3		3	KCNH3	12	49937813	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	415575	49937813	83914082	6745	11853										
KCNH3	23416	hgsc.bcm.edu	37	chr12	49951232	49951232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcgccccacagggagggTccgtgccctcgggcatcggg	17	15	0	0	rs2241418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49951232T>C	ENST00000257981.6	+	15	3008	c.2748T>C	c.(2746-2748)ggT>ggC	p.G916G	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	916					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACAGGGAGGGTCCGTGCCCTC	0.662													C|||	1036	0.206869	0.5151	0.1081	5008	,	,		16526	0.0833		0.1054	False		,,,				2504	0.092				p.G916G		Atlas-SNP	.											.	KCNH3	88	.	0			c.T2748C						PASS	.	C		1914,2490	586.8+/-386.5	429,1056,717	24	27	26		2748	2.4	0.5	12	dbSNP_98	26	900,7698	752.9+/-407.4	56,788,3455	no	coding-synonymous	KCNH3	NM_012284.1		485,1844,4172	CC,CT,TT		10.4676,43.4605,21.6428		916/1084	49951232	2814,10188	2202	4299	6501	SO:0001819	synonymous_variant	23416	exon15			GGAGGGTCCGTGC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2748T>C	12.37:g.49951232T>C		Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	100	99	0.99	NM_012284	Q9UQ06	Silent	SNP	ENST00000257981.6	37	CCDS8786.1																																																																																			T|0.792;C|0.208	0.208	strong		0.662	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		C	49951232	T	C	49951232	2	2	22	1	0	0	0	0	0	0	0	1	8033	1654	58	2		2	KCNH3	12	49951232	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13419	49951232	83900663	6746	11854										
KCNH3	23416	hgsc.bcm.edu	37	chr12	49951377	49951377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggacttggccccaccctCgtccggggcctcctcccctc	11	20	0	0	rs59261129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49951377C>T	ENST00000257981.6	+	15	3153	c.2893C>T	c.(2893-2895)Cgt>Tgt	p.R965C	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	965	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCCACCCTCGTCCGGGGCC	0.682													C|||	367	0.0732827	0.149	0.0533	5008	,	,		16519	0.0238		0.0686	False		,,,				2504	0.0409				p.R965C		Atlas-SNP	.											.	KCNH3	88	.	0			c.C2893T						PASS	.	C	CYS/ARG	558,3848	250.0+/-257.2	37,484,1682	48	48	48		2893	5.1	0.9	12	dbSNP_129	48	615,7985	158.8+/-212.2	21,573,3706	yes	missense	KCNH3	NM_012284.1	180	58,1057,5388	TT,TC,CC		7.1512,12.6645,9.0189	probably-damaging	965/1084	49951377	1173,11833	2203	4300	6503	SO:0001583	missense	23416	exon15			CACCCTCGTCCGG	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2893C>T	12.37:g.49951377C>T	ENSP00000257981:p.Arg965Cys	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_012284	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	156	0.07142857142857142	73	0.1483739837398374	25	0.06906077348066299	7	0.012237762237762238	51	0.06728232189973615	C	14.56	2.571254	0.45798	0.126645	0.071512	ENSG00000135519	ENST00000257981	D	0.98978	-5.29	5.09	5.09	0.68999	.	0.174710	0.28082	N	0.016664	T	0.09730	0.0239	N	0.08118	0	0.09310	P	1.0	D	0.56968	0.978	B	0.30782	0.12	T	0.70494	-0.4856	9	0.36615	T	0.2	.	13.8582	0.63542	0.0:1.0:0.0:0.0	rs59261129;rs61745869	965	Q9ULD8	KCNH3_HUMAN	C	965	ENSP00000257981:R965C	ENSP00000257981:R965C	R	+	1	0	KCNH3	48237644	0.668000	0.27493	0.935000	0.37517	0.960000	0.62799	1.494000	0.35616	2.650000	0.89964	0.561000	0.74099	CGT	C|0.914;T|0.086	0.086	strong		0.682	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		T	49951377	C	T	49951377	3	4	22	1	0	0	0	0	1	0	0	0	8033	884	31	1	2951	1	KCNH3	12	49951377	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145	49951377	83900518	6747	11855										
MCRS1	10445	hgsc.bcm.edu	37	chr12	49952668	49952668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgccatttggagccacaGagcaccggccgtccatcgat	12	14	0	1	rs2303305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49952668G>A	ENST00000550165.1	-	15	1526	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	MCRS1_ENST00000546244.1_Silent_p.L229L|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.L433L|MCRS1_ENST00000343810.4_Silent_p.L420L			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	420					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGGAGCCACAGAGCACCGGCC	0.567													G|||	544	0.108626	0.1891	0.0836	5008	,	,		20234	0.0823		0.0875	False		,,,				2504	0.0665				p.L433L		Atlas-SNP	.											.	MCRS1	40	.	0			c.C1299T						PASS	.	G	,	748,3658	305.8+/-289.2	61,626,1516	61	58	59		1299,1260	-2.7	1	12	dbSNP_100	59	720,7880	174.8+/-225.0	30,660,3610	no	coding-synonymous,coding-synonymous	MCRS1	NM_001012300.1,NM_006337.3	,	91,1286,5126	AA,AG,GG		8.3721,16.9768,11.2871	,	433/476,420/463	49952668	1468,11538	2203	4300	6503	SO:0001819	synonymous_variant	10445	exon13			GCCACAGAGCACC	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1260C>T	12.37:g.49952668G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	42	21	0.5	NM_001012300	O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	ENST00000550165.1	37	CCDS8787.1																																																																																			G|0.892;A|0.108	0.108	strong		0.567	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		A	49952668	G	A	49952668	2	1	22	1	0	0	0	0	0	0	0	1	9399	929	33	2		2	MCRS1	12	49952668	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1291	49952668	83899227	6748	11856										
FAM186B	84070	hgsc.bcm.edu	37	chr12	49993678	49993678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggtgagcagattgggtcCggcttggggcaggcactaat	16	7	0	2	rs52824916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49993678C>T	ENST00000257894.2	-	4	1906	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.R492Q|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	582						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATTGGGTCCGGCTTGGGGC	0.577													C|||	567	0.113219	0.2012	0.0922	5008	,	,		18406	0.0823		0.0885	False		,,,				2504	0.0665				p.R582Q		Atlas-SNP	.											.	FAM186B	72	.	0			c.G1745A						PASS	.	C	GLN/ARG	765,3641	313.0+/-292.9	62,641,1500	92	83	86		1745	1.5	0	12	dbSNP_128	86	721,7879	175.8+/-225.7	30,661,3609	yes	missense	FAM186B	NM_032130.2	43	92,1302,5109	TT,TC,CC		8.3837,17.3627,11.4255	possibly-damaging	582/894	49993678	1486,11520	2203	4300	6503	SO:0001583	missense	84070	exon4			TGGGTCCGGCTTG	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1745G>A	12.37:g.49993678C>T	ENSP00000257894:p.Arg582Gln	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	149	64	0.42953	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	250	0.11446886446886446	103	0.20934959349593496	44	0.12154696132596685	35	0.06118881118881119	68	0.08970976253298153	C	10.34	1.324055	0.24080	0.173627	0.083837	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.13089	2.63;2.62;2.85	4.33	1.51	0.23008	.	0.417675	0.17762	N	0.162860	T	0.00012	0.0000	M	0.62723	1.935	0.80722	P	0.0	B;B	0.31318	0.319;0.168	B;B	0.25405	0.06;0.048	T	0.30327	-0.9982	8	.	.	.	-12.2787	6.0347	0.19699	0.0:0.6777:0.0:0.3223	rs52824916	492;582	B4DZ15;Q8IYM0	.;F186B_HUMAN	Q	492;195;582	ENSP00000438569:R492Q;ENSP00000436995:R195Q;ENSP00000257894:R582Q	.	R	-	2	0	FAM186B	48279945	0.000000	0.05858	0.026000	0.17262	0.074000	0.17049	0.139000	0.16036	0.577000	0.29470	0.563000	0.77884	CGG	C|0.886;T|0.114	0.114	strong		0.577	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		T	49993678	C	T	49993678	3	4	22	1	0	0	0	0	1	0	0	0	5512	652	23	1	952	1	FAM186B	12	49993678	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41010	49993678	83858217	6749	11857										
FAM186B	84070	hgsc.bcm.edu	37	chr12	49993766	49993766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcctcctctccacatcctCccctagctgctctggctctc	5	20	3	0	rs12299908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49993766C>G	ENST00000257894.2	-	4	1818	c.1657G>C	c.(1657-1659)Gag>Cag	p.E553Q	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.E463Q|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	553			E -> Q (in dbSNP:rs12299908).			protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCACATCCTCCCCTAGCTGC	0.592													C|||	464	0.0926518	0.3169	0.0202	5008	,	,		18890	0.001		0.0169	False		,,,				2504	0.0133				p.E553Q		Atlas-SNP	.											.	FAM186B	72	.	0			c.G1657C						PASS	.	C	GLN/GLU	1166,3240	410.4+/-335.4	148,870,1185	95	86	89		1657	0.1	0	12	dbSNP_120	89	175,8425	79.5+/-142.1	2,171,4127	yes	missense	FAM186B	NM_032130.2	29	150,1041,5312	GG,GC,CC		2.0349,26.4639,10.3106	possibly-damaging	553/894	49993766	1341,11665	2203	4300	6503	SO:0001583	missense	84070	exon4			CATCCTCCCCTAG	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1657G>C	12.37:g.49993766C>G	ENSP00000257894:p.Glu553Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	145	0.06639194139194139	124	0.25203252032520324	6	0.016574585635359115	1	0.0017482517482517483	14	0.018469656992084433	C	13.34	2.209076	0.39003	0.264639	0.020349	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.11169	2.8;2.8;3.0	4.41	0.105	0.14535	.	0.175215	0.27613	N	0.018599	T	0.00012	0.0000	M	0.64997	1.995	0.80722	P	0.0	B;B	0.23937	0.094;0.094	B;B	0.23275	0.045;0.045	T	0.39272	-0.9622	8	.	.	.	-8.9157	4.2987	0.10915	0.0:0.4093:0.3723:0.2185	rs12299908;rs12299908	463;553	B4DZ15;Q8IYM0	.;F186B_HUMAN	Q	463;166;553	ENSP00000438569:E463Q;ENSP00000436995:E166Q;ENSP00000257894:E553Q	.	E	-	1	0	FAM186B	48280033	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.032000	0.13732	0.396000	0.25283	0.563000	0.77884	GAG	C|0.909;G|0.091	0.091	strong		0.592	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		G	49993766	C	G	49993766	3	3	22	1	0	0	0	0	1	0	0	0	5512	864	30	4	1040	4	FAM186B	12	49993766	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88	49993766	83858129	6750	11858										
FAM186B	84070	hgsc.bcm.edu	37	chr12	49994658	49994658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatttggtctccaggctCctgttctccttgtgttggag	11	10	2	0	rs74086906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:49994658C>G	ENST00000257894.2	-	4	926	c.765G>C	c.(763-765)agG>agC	p.R255S	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.R165S|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	255						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTCCAGGCTCCTGTTCTCCT	0.557													C|||	200	0.0399361	0.1445	0.0115	5008	,	,		20376	0.0		0.001	False		,,,				2504	0.0				p.R255S		Atlas-SNP	.											.	FAM186B	72	.	0			c.G765C						PASS	.	C	SER/ARG	471,3935	223.9+/-240.3	27,417,1759	118	107	111		765	-3.4	0	12	dbSNP_130	111	2,8598	1.2+/-3.3	0,2,4298	yes	missense	FAM186B	NM_032130.2	110	27,419,6057	GG,GC,CC		0.0233,10.69,3.6368	benign	255/894	49994658	473,12533	2203	4300	6503	SO:0001583	missense	84070	exon4			CAGGCTCCTGTTC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.765G>C	12.37:g.49994658C>G	ENSP00000257894:p.Arg255Ser	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	288	114	0.395833	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	85	0.03891941391941392	77	0.1565040650406504	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	9.727	1.161124	0.21538	0.1069	2.33E-4	ENSG00000135436	ENST00000544141;ENST00000257894	T;T	0.13307	2.6;2.81	5.35	-3.38	0.04883	.	0.418099	0.20622	N	0.088744	T	0.00039	0.0001	L	0.29908	0.895	0.80722	P	0.0	B;B	0.28783	0.222;0.024	B;B	0.20955	0.032;0.015	T	0.37619	-0.9698	8	.	.	.	-11.8042	1.6749	0.02820	0.1249:0.2948:0.1626:0.4177	.	165;255	B4DZ15;Q8IYM0	.;F186B_HUMAN	S	165;255	ENSP00000438569:R165S;ENSP00000257894:R255S	.	R	-	3	2	FAM186B	48280925	0.000000	0.05858	0.019000	0.16419	0.986000	0.74619	-0.460000	0.06720	-0.364000	0.08088	-0.157000	0.13467	AGG	C|0.964;G|0.036	0.036	strong		0.557	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		G	49994658	C	G	49994658	3	3	22	1	0	0	0	0	1	0	0	0	5512	854	30	4	1932	4	FAM186B	12	49994658	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	892	49994658	83857237	6751	11859										
FMNL3	91010	hgsc.bcm.edu	37	chr12	50043687	50043687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcactccacgaagtccacAggtagtgtctgcaagtcaaa	10	11	2	0	rs61733848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50043687A>G	ENST00000293590.5	-	18	2255	c.2022T>C	c.(2020-2022)ccT>ccC	p.P674P	FMNL3_ENST00000550488.1_Silent_p.P674P|FMNL3_ENST00000352151.5_Silent_p.P623P|FMNL3_ENST00000335154.5_Silent_p.P674P			Q8IVF7	FMNL3_HUMAN	formin-like 3	674	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CGAAGTCCACAGGTAGTGTCT	0.567													A|||	72	0.014377	0.0348	0.0043	5008	,	,		21632	0.001		0.0149	False		,,,				2504	0.0072				p.P674P		Atlas-SNP	.											FMNL3,face,carcinoma,-2,1	FMNL3	137	1	0			c.T2022C						scavenged	.	A	,	139,4045		1,137,1954	29	31	31		2022,1869	-10.9	0.2	12	dbSNP_129	31	119,8347		2,115,4116	no	coding-synonymous,coding-synonymous	FMNL3	NM_175736.4,NM_198900.2	,	3,252,6070	GG,GA,AA		1.4056,3.3222,2.0395	,	674/1028,623/977	50043687	258,12392	2092	4233	6325	SO:0001819	synonymous_variant	91010	exon18			GTCCACAGGTAGT	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2022T>C	12.37:g.50043687A>G		Somatic	35	1	0.0285714		WXS	Illumina HiSeq	Phase_I	58	39	0.672414	NM_175736	B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37																																																																																				A|0.985;G|0.015	0.015	strong		0.567	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		G	50043687	A	G	50043687	2	3	22	1	0	0	0	0	0	0	0	1	5953	175	7	3		3	FMNL3	12	50043687	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49029	50043687	83808208	6752	11860										
TMBIM6	7009	hgsc.bcm.edu	37	chr12	50152193	50152193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccactgctttcatgggcacGgcaatgatctttacctgctt	8	13	2	1	rs4563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50152193G>A	ENST00000267115.5	+	6	448	c.363G>A	c.(361-363)acG>acA	p.T121T	TMBIM6_ENST00000547798.1_Silent_p.T84T|TMBIM6_ENST00000549385.1_Silent_p.T121T|TMBIM6_ENST00000395006.4_Silent_p.T121T|TMBIM6_ENST00000423828.1_Silent_p.T179T|TMBIM6_ENST00000552699.1_Silent_p.T179T	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	121					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCATGGGCACGGCAATGATCT	0.463													A|||	1093	0.218251	0.5635	0.1138	5008	,	,		21428	0.0823		0.1004	False		,,,				2504	0.0869				p.T179T		Atlas-SNP	.											.	TMBIM6	26	.	0			c.G537A						PASS	.	A	,	2093,2313	603.2+/-390.1	505,1083,615	202	157	172		537,363	-0.8	1	12	dbSNP_52	172	832,7768	781.8+/-407.6	45,742,3513	no	coding-synonymous,coding-synonymous	TMBIM6	NM_001098576.1,NM_003217.2	,	550,1825,4128	AA,AG,GG		9.6744,47.5034,22.4896	,	179/296,121/238	50152193	2925,10081	2203	4300	6503	SO:0001819	synonymous_variant	7009	exon6			GGGCACGGCAATG	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.363G>A	12.37:g.50152193G>A		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	198	198	1	NM_001098576	B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP	ENST00000267115.5	37	CCDS31797.1																																																																																			G|0.790;A|0.210	0.210	strong		0.463	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		A	50152193	G	A	50152193	2	1	22	1	0	0	0	0	0	0	0	1	15980	1103	39	1		1	TMBIM6	12	50152193	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108506	50152193	83699702	6753	11861										
TMBIM6	7009	hgsc.bcm.edu	37	chr12	50153060	50153060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgtcctttttgatactcaActcattattgaaaaggccga	6	9	2	2	rs12310796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50153060A>G	ENST00000267115.5	+	8	655	c.570A>G	c.(568-570)caA>caG	p.Q190Q	TMBIM6_ENST00000547798.1_Silent_p.Q153Q|TMBIM6_ENST00000423828.1_Silent_p.Q248Q|TMBIM6_ENST00000549385.1_Silent_p.Q190Q|TMBIM6_ENST00000395006.4_Silent_p.Q190Q|TMBIM6_ENST00000552699.1_Silent_p.Q248Q	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	190					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGATACTCAACTCATTATTG	0.418													A|||	27	0.00539137	0.0204	0.0	5008	,	,		20350	0.0		0.0	False		,,,				2504	0.0				p.Q248Q		Atlas-SNP	.											.	TMBIM6	26	.	0			c.A744G						PASS	.	A	,	81,4325	69.2+/-107.0	0,81,2122	212	192	199		744,570	3	1	12	dbSNP_120	199	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMBIM6	NM_001098576.1,NM_003217.2	,	0,81,6422	GG,GA,AA		0.0,1.8384,0.6228	,	248/296,190/238	50153060	81,12925	2203	4300	6503	SO:0001819	synonymous_variant	7009	exon8			TACTCAACTCATT	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.570A>G	12.37:g.50153060A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	128	58	0.453125	NM_001098576	B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP	ENST00000267115.5	37	CCDS31797.1																																																																																			A|0.993;G|0.007	0.007	strong		0.418	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		G	50153060	A	G	50153060	2	3	22	1	0	0	0	0	0	0	0	1	15980	40	2	2		2	TMBIM6	12	50153060	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	867	50153060	83698835	6754	11862										
NCKAP5L	57701	hgsc.bcm.edu	37	chr12	50189602	50189602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcaccccattcttctctgAgcccagggccccctcggggc	11	18	2	1	rs3813526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50189602A>G	ENST00000335999.6	-	8	2242	c.2041T>C	c.(2041-2043)Tca>Cca	p.S681P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	677										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TTCTTCTCTGAGCCCAGGGCC	0.677													G|||	1386	0.276757	0.233	0.3847	5008	,	,		12823	0.5466		0.0537	False		,,,				2504	0.2106				p.S681P		Atlas-SNP	.											.	NCKAP5L	142	.	0			c.T2041C						PASS	.	G	PRO/SER	696,2928		77,542,1193	9	10	10		2041	0.7	1	12	dbSNP_107	10	348,7692		10,328,3682	yes	missense	NCKAP5L	NM_001037806.3	74	87,870,4875	GG,GA,AA		4.3284,19.2053,8.9506	benign	681/1335	50189602	1044,10620	1812	4020	5832	SO:0001583	missense	57701	exon8			TCTCTGAGCCCAG	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2041T>C	12.37:g.50189602A>G	ENSP00000337998:p.Ser681Pro	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	48	25	0.520833	NM_001037806	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	607|607	0.27793040293040294|0.27793040293040294	121|121	0.2459349593495935|0.2459349593495935	126|126	0.34806629834254144|0.34806629834254144	321|321	0.5611888111888111|0.5611888111888111	39|39	0.051451187335092345|0.051451187335092345	G|G	3.069|3.069	-0.191536|-0.191536	0.06299|0.06299	0.192053|0.192053	0.043284|0.043284	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.46451	.|0.87	4.06|4.06	0.656|0.656	0.17844|0.17844	.|.	.|0.487974	.|0.17508	.|N	.|0.171724	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00707|0.00707	-1.245|-1.245	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.44050|0.44050	-0.9353|-0.9353	4|9	.|0.17832	.|T	.|0.49	0.0997|0.0997	0.9826|0.9826	0.01439|0.01439	0.1921:0.1398:0.3704:0.2976|0.1921:0.1398:0.3704:0.2976	rs3813526;rs56785821;rs3813526|rs3813526;rs56785821;rs3813526	.|677;677	.|E2QRB5;Q9HCH0-2	.|.;.	P|P	395|681;677	.|ENSP00000337998:S681P	.|ENSP00000337998:S681P	L|S	-|-	2|1	0|0	NCKAP5L|NCKAP5L	48475869|48475869	0.000000|0.000000	0.05858|0.05858	0.982000|0.982000	0.44146|0.44146	0.954000|0.954000	0.61252|0.61252	-1.403000|-1.403000	0.02497|0.02497	0.062000|0.062000	0.16340|0.16340	-0.215000|-0.215000	0.12644|0.12644	CTC|TCA	A|0.741;G|0.259	0.259	strong		0.677	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		G	50189602	A	G	50189602	3	3	22	1	0	0	0	0	1	0	0	0	10224	304	11	3	1987	3	NCKAP5L	12	50189602	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36542	50189602	83662293	6755	11863										
NCKAP5L	57701	hgsc.bcm.edu	37	chr12	50190653	50190653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactctgtgtcctcaaggagCtggcccaggttcaactgtct	11	12	4	0	rs3741555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50190653C>T	ENST00000335999.6	-	8	1191	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	326	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCTCAAGGAGCTGGCCCAGGT	0.652													C|||	1382	0.275958	0.23	0.3847	5008	,	,		16740	0.5466		0.0537	False		,,,				2504	0.2106				p.Q330Q		Atlas-SNP	.											NCKAP5L_ENST00000335999,rectum,carcinoma,0,2	NCKAP5L	142	2	0			c.G990A						PASS	.	C		818,3146		97,624,1261	16	19	18		990	2.2	1	12	dbSNP_107	18	394,7876		9,376,3750	no	coding-synonymous	NCKAP5L	NM_001037806.3		106,1000,5011	TT,TC,CC		4.7642,20.6357,9.9068		330/1335	50190653	1212,11022	1982	4135	6117	SO:0001819	synonymous_variant	57701	exon8			AAGGAGCTGGCCC	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.990G>A	12.37:g.50190653C>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	57	32	0.561404	NM_001037806	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2	602	0.27564102564102566	118	0.23983739837398374	126	0.34806629834254144	319	0.5576923076923077	39	0.051451187335092345	C	8.398	0.841268	0.16891	0.206357	0.047642	ENSG00000167566	ENST00000433948	.	.	.	4.12	2.21	0.28008	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999738904	.	.	.	.	.	.	T	0.48007	-0.9072	3	.	.	.	-6.4151	7.0432	0.25031	0.0:0.6158:0.0:0.3842	rs3741555;rs58965238;rs3741555	.	.	.	T	45	.	.	A	-	1	0	NCKAP5L	48476920	0.992000	0.36948	0.993000	0.49108	0.963000	0.63663	0.922000	0.28734	0.299000	0.22661	0.462000	0.41574	GCT	C|0.733;T|0.267	0.267	strong		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		T	50190653	C	T	50190653	2	4	22	1	0	0	0	0	0	0	0	1	10224	796	28	2		2	NCKAP5L	12	50190653	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1051	50190653	83661242	6756	11864										
BCDIN3D	144233	hgsc.bcm.edu	37	chr12	50232169	50232169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatctcactgcttctggaaActtaatctgttcttttcttt	4	11	5	0	rs11169172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50232169A>T	ENST00000333924.4	-	2	905	c.864T>A	c.(862-864)agT>agA	p.S288R	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	288			S -> R (in dbSNP:rs11169172).		miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.S288R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GCTTCTGGAAACTTAATCTGT	0.388													.|||	1423	0.284145	0.2549	0.3934	5008	,	,		22331	0.5337		0.0616	False		,,,				2504	0.2178				p.S288R		Atlas-SNP	.											BCDIN3D,NS,carcinoma,0,1	BCDIN3D	20	1	1	Substitution - Missense(1)	stomach(1)	c.T864A						scavenged	.	A	ARG/SER	961,3445	361.1+/-315.5	97,767,1339	138	136	136		864	3.6	0.9	12	dbSNP_120	136	529,8071	147.7+/-203.1	13,503,3784	yes	missense	BCDIN3D	NM_181708.2	110	110,1270,5123	TT,TA,AA		6.1512,21.8112,11.4563	benign	288/293	50232169	1490,11516	2203	4300	6503	SO:0001583	missense	144233	exon2			CTGGAAACTTAAT		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.864T>A	12.37:g.50232169A>T	ENSP00000335201:p.Ser288Arg	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	15	5	0.333333	NM_181708	A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	CCDS8790.1	598	0.27380952380952384	118	0.23983739837398374	129	0.356353591160221	305	0.5332167832167832	46	0.06068601583113457	A	0.008	-1.866897	0.00547	0.218112	0.061512	ENSG00000186666	ENST00000333924	T	0.40225	1.04	4.79	3.64	0.41730	.	0.130149	0.35495	N	0.003162	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999398211	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	9	0.02654	T	1	.	7.8705	0.29563	0.1859:0.0:0.0:0.814	rs11169172;rs11169172	288	Q7Z5W3	BN3D2_HUMAN	R	288	ENSP00000335201:S288R	ENSP00000335201:S288R	S	-	3	2	BCDIN3D	48518436	0.005000	0.15991	0.861000	0.33841	0.031000	0.12232	0.191000	0.17076	0.964000	0.38108	-0.536000	0.04276	AGT	A|0.811;T|0.189	0.189	strong		0.388	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		T	50232169	A	T	50232169	3	4	22	1	0	0	0	0	1	0	0	0	1357	40	2	5	18	5	BCDIN3D	12	50232169	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	41516	50232169	83619726	6757	11865										
AQP2	359	hgsc.bcm.edu	37	chr12	50344958	50344958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcagacatccgcggggaCctggctgtcaatgctgtgag	14	12	1	2	rs60629501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50344958C>T	ENST00000199280.3	+	1	430	c.345C>T	c.(343-345)gaC>gaT	p.D115D	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	115					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCCGCGGGGACCTGGCTGTCA	0.627													C|||	61	0.0121805	0.0431	0.0058	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.0				p.D115D		Atlas-SNP	.											.	AQP2	34	.	0			c.C345T						PASS	.	C		173,4225		2,169,2028	16	17	17		345	0.7	1	12	dbSNP_129	17	0,8590		0,0,4295	no	coding-synonymous	AQP2	NM_000486.5		2,169,6323	TT,TC,CC		0.0,3.9336,1.332		115/272	50344958	173,12815	2199	4295	6494	SO:0001819	synonymous_variant	359	exon1			CGGGGACCTGGCT		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.345C>T	12.37:g.50344958C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_000486	Q9UD68	Silent	SNP	ENST00000199280.3	37	CCDS8792.1																																																																																			C|0.988;T|0.012	0.012	strong		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		T	50344958	C	T	50344958	2	4	22	1	0	0	0	0	0	0	0	1	826	506	18	2		2	AQP2	12	50344958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	112789	50344958	83506937	6758	11866										
RACGAP1	29127	hgsc.bcm.edu	37	chr12	50384469	50384469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccaattctgcatacctAggagtgttcttggtgagggt	13	7	2	1	rs56699050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50384469A>G	ENST00000427314.2	-	18	2044	c.1821T>C	c.(1819-1821)ccT>ccC	p.P607P	RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000454520.2_Silent_p.P607P|RACGAP1_ENST00000312377.5_Silent_p.P607P|RACGAP1_ENST00000551016.1_Silent_p.P607P|RACGAP1_ENST00000547905.1_Silent_p.P607P|RACGAP1_ENST00000434422.1_Silent_p.P607P	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTGCATACCTAGGAGTGTTCT	0.403													G|||	407	0.08127	0.2988	0.0173	5008	,	,		18804	0.0		0.0	False		,,,				2504	0.0				p.P607P		Atlas-SNP	.											.	RACGAP1	36	.	0			c.T1821C						PASS	.	G	,,	1092,3314	721.2+/-409.1	136,820,1247	106	109	108		1821,1821,1821	2.9	1	12	dbSNP_129	108	5,8595	819.1+/-406.8	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	RACGAP1	NM_001126103.1,NM_001126104.1,NM_013277.3	,,	136,825,5542	GG,GA,AA		0.0581,24.7844,8.4346	,,	607/633,607/633,607/633	50384469	1097,11909	2203	4300	6503	SO:0001819	synonymous_variant	29127	exon18			ATACCTAGGAGTG		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1821T>C	12.37:g.50384469A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	132	70	0.530303	NM_013277		Silent	SNP	ENST00000427314.2	37	CCDS8795.1																																																																																			A|0.918;G|0.082	0.082	strong		0.403	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		G	50384469	A	G	50384469	2	3	22	1	0	0	0	0	0	0	0	1	12977	407	15	3		3	RACGAP1	12	50384469	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39511	50384469	83467426	6759	11867										
RACGAP1	29127	hgsc.bcm.edu	37	chr12	50384542	50384542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggagtcttgagaagctgaTgttcaggagtggtcacaggt	15	5	3	2	rs140590023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50384542T>C	ENST00000427314.2	-	18	1971	c.1748A>G	c.(1747-1749)cAt>cGt	p.H583R	RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H583R|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H583R|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H583R|RACGAP1_ENST00000547905.1_Missense_Mutation_p.H583R|RACGAP1_ENST00000434422.1_Missense_Mutation_p.H583R	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GAGAAGCTGATGTTCAGGAGT	0.448													T|||	7	0.00139776	0.0053	0.0	5008	,	,		18657	0.0		0.0	False		,,,				2504	0.0				p.H583R		Atlas-SNP	.											.	RACGAP1	36	.	0			c.A1748G						PASS	.	T	ARG/HIS,ARG/HIS,ARG/HIS	24,4382	30.8+/-60.4	0,24,2179	99	100	100		1748,1748,1748	4.3	1	12	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense,missense	RACGAP1	NM_001126103.1,NM_001126104.1,NM_013277.3	29,29,29	0,24,6479	CC,CT,TT		0.0,0.5447,0.1845	benign,benign,benign	583/633,583/633,583/633	50384542	24,12982	2203	4300	6503	SO:0001583	missense	29127	exon18			AGCTGATGTTCAG		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1748A>G	12.37:g.50384542T>C	ENSP00000404190:p.His583Arg	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	167	67	0.401198	NM_013277		Missense_Mutation	SNP	ENST00000427314.2	37	CCDS8795.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	10.23	1.292278	0.23564	0.005447	0.0	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.44	4.26	0.50523	.	0.261377	0.45606	D	0.000346	T	0.12347	0.0300	L	0.40543	1.245	0.32252	N	0.571354	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	10	0.12103	T	0.63	-5.0933	7.5935	0.28035	0.1299:0.0708:0.0:0.7993	.	583	Q9H0H5	RGAP1_HUMAN	R	583	ENSP00000404190:H583R;ENSP00000309871:H583R;ENSP00000413241:H583R;ENSP00000404808:H583R;ENSP00000449374:H583R;ENSP00000449370:H583R	ENSP00000309871:H583R	H	-	2	0	RACGAP1	48670809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.825000	0.62708	0.955000	0.37878	0.533000	0.62120	CAT	T|0.998;C|0.002	0.002	strong		0.448	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		C	50384542	T	C	50384542	3	2	22	1	0	0	0	0	1	0	0	0	12977	1464	51	2	158	2	RACGAP1	12	50384542	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73	50384542	83467353	6760	11868										
GPD1	2819	hgsc.bcm.edu	37	chr12	50498475	50498475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaaagctgactgagatcAtcaacacgcagcatgagaat	9	9	2	3	rs2232202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:50498475A>G	ENST00000301149.3	+	2	392	c.160A>G	c.(160-162)Atc>Gtc	p.I54V	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.I54V	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	54			I -> V (in dbSNP:rs2232202). {ECO:0000269|PubMed:22226083}.		cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GACTGAGATCATCAACACGCA	0.542													A|||	56	0.0111821	0.0424	0.0	5008	,	,		20418	0.0		0.0	False		,,,				2504	0.0				p.I54V	NSCLC(141;1402 1905 9497 13391 44868)	Atlas-SNP	.											.	GPD1	23	.	0			c.A160G						PASS	.	A	VAL/ILE	177,4229	115.4+/-153.4	7,163,2033	126	112	117		160	5.7	1	12	dbSNP_98	117	1,8599		0,1,4299	yes	missense	GPD1	NM_005276.2	29	7,164,6332	GG,GA,AA		0.0116,4.0172,1.3686	probably-damaging	54/350	50498475	178,12828	2203	4300	6503	SO:0001583	missense	2819	exon2			GAGATCATCAACA		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.160A>G	12.37:g.50498475A>G	ENSP00000301149:p.Ile54Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	98	41	0.418367	NM_005276	F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	CCDS8799.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	A	26.3	4.724233	0.89298	0.040172	1.16E-4	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.63913	-0.07;0.53	5.7	5.7	0.88788	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.89287	3.02	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.998	P;D;D	0.85130	0.908;0.99;0.997	T	0.78267	-0.2270	10	0.87932	D	0	-16.3048	16.2858	0.82720	1.0:0.0:0.0:0.0	rs2232202;rs52818556;rs2232202	54;54;54	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	V	54	ENSP00000301149:I54V;ENSP00000446768:I54V	ENSP00000301149:I54V	I	+	1	0	GPD1	48784742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.458000	0.80787	2.313000	0.78055	0.454000	0.30748	ATC	A|0.984;G|0.016	0.016	strong		0.542	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			G	50498475	A	G	50498475	3	3	22	1	0	0	0	0	1	0	0	0	6604	217	8	2	166	2	GPD1	12	50498475	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113933	50498475	83353420	6761	11869										
TMPRSS12	283471	hgsc.bcm.edu	37	chr12	51236802	51236802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggggagctctcacttaTactcagaccactactcgccc	8	14	2	1	rs10876100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:51236802T>C	ENST00000398458.3	+	1	87	c.55T>C	c.(55-57)Tac>Cac	p.Y19H	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.Y19H|RN7SL519P_ENST00000497925.2_RNA	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	19			Y -> H (in dbSNP:rs10876100).			integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						CTCTCACTTATACTCAGACCA	0.652													T|||	1497	0.298922	0.3328	0.2709	5008	,	,		14242	0.4038		0.2207	False		,,,				2504	0.2454				p.Y19H		Atlas-SNP	.											.	TMPRSS12	33	.	0			c.T55C						PASS	.	T	HIS/TYR	1296,2708		208,880,914	29	30	30		55	1.1	0	12	dbSNP_120	30	1798,6492		209,1380,2556	yes	missense	TMPRSS12	NM_182559.2	83	417,2260,3470	CC,CT,TT		21.6888,32.3676,25.1667	benign	19/349	51236802	3094,9200	2002	4145	6147	SO:0001583	missense	283471	exon1			CACTTATACTCAG	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.55T>C	12.37:g.51236802T>C	ENSP00000381476:p.Tyr19His	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_182559	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	625	0.28617216117216115	163	0.3313008130081301	100	0.27624309392265195	212	0.3706293706293706	150	0.19788918205804748	T	4.132	0.022751	0.08006	0.323676	0.216888	ENSG00000186452	ENST00000551456;ENST00000398458	D;D	0.90133	-2.62;-2.53	3.44	1.08	0.20341	.	1.518320	0.04643	N	0.405589	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04128	-1.0975	9	0.16896	T	0.51	0.5913	6.9674	0.24631	0.0:0.2249:0.0:0.7751	rs10876100;rs52803962;rs10876100	19;19	F8WBX2;Q86WS5	.;TMPSC_HUMAN	H	19	ENSP00000447259:Y19H;ENSP00000381476:Y19H	ENSP00000381476:Y19H	Y	+	1	0	TMPRSS12	49523069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.077000	0.11394	-0.057000	0.13199	-1.777000	0.00654	TAC	T|0.715;C|0.285	0.285	strong		0.652	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		C	51236802	T	C	51236802	3	2	22	1	0	0	0	0	1	0	0	0	16241	1406	49	2	57	2	TMPRSS12	12	51236802	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	738327	51236802	82615093	6762	11870										
BIN2	51411	hgsc.bcm.edu	37	chr12	51696500	51696500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttcagctcctcatgaccGtcccactcgctgctgtagat	8	16	2	2	rs7975715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:51696500G>A	ENST00000267012.4	-	4	343	c.282C>T	c.(280-282)gaC>gaT	p.D94D	BIN2_ENST00000544402.1_Silent_p.D68D|BIN2_ENST00000452142.2_Silent_p.D94D|BIN2_ENST00000604560.1_Silent_p.D67D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	94	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCATGACCGTCCCACTCGC	0.463													G|||	709	0.141573	0.1982	0.1037	5008	,	,		19444	0.2282		0.0984	False		,,,				2504	0.047				p.D94D		Atlas-SNP	.											.	BIN2	58	.	0			c.C282T						PASS	.	G		747,3659	305.5+/-289.0	56,635,1512	237	214	222		282	-10.4	0.1	12	dbSNP_116	222	924,7676	205.5+/-247.9	58,808,3434	no	coding-synonymous	BIN2	NM_016293.2		114,1443,4946	AA,AG,GG		10.7442,16.9542,12.8479		94/566	51696500	1671,11335	2203	4300	6503	SO:0001819	synonymous_variant	51411	exon4			ATGACCGTCCCAC	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.282C>T	12.37:g.51696500G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	145	66	0.455172	NM_016293	Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	CCDS8811.1																																																																																			G|0.868;A|0.132	0.132	strong		0.463	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			A	51696500	G	A	51696500	2	1	22	1	0	0	0	0	0	0	0	1	1433	1136	40	1		1	BIN2	12	51696500	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	459698	51696500	82155395	6763	11871										
CELA1	1990	hgsc.bcm.edu	37	chr12	51740388	51740416	+	Splice_Site	DEL	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaaggaccagggttgcgaCtggaccatatccacttacca					rs150350903|rs573952082|rs532961697|rs141305161|rs117443541|rs377599213|rs143199509|rs61761206|rs3059200|rs148235680|rs370927847|rs907354|rs148270827|rs116944010|rs57614420|rs386762976|rs55827519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:51740388_51740416delCTGGACCATATCCACTTACCATAAAGGAC	ENST00000293636.1	-	1	47_57	c.7_17delGTCCTTTATGGTAAGTGGATATGGTCCAG	c.(7-18)gtcctttatggt>t	p.VLYG3fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	3					exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V3fs*21(1)|p.L4P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AGGGTTGCGACTGGACCATATCCACTTACCATAAAGGACCAGCATGTTG	0.511																																					p.3_6del		Pindel	.											.	CELA1	39	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.8_16del						PASS	.																																			SO:0001630	splice_region_variant	1990	exon1			.		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.16+1GTCCTTTATGGTAAGTGGATATGGTCCAG>-	12.37:g.51740388_51740416delCTGGACCATATCCACTTACCATAAAGGAC		Somatic	161	.	.		WXS	Illumina HiSeq	Phase_I	123	19	0.154	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	In_Frame_Del	DEL	ENST00000293636.1	37	CCDS8812.1																																																																																			-|0.574;CACCAGGAAGCG|0.426	0.574	alt		0.511	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	Frame_Shift_Del	-	51740416	CTGGACCATATCCACTTACCATAAAGGAC	-	51740388	8	5	22	1	0	1	0	1	0	0	1	0	3210	580	20	0		0	CELA1	12	51740388	Splice_Site	DEL	CTGGACCATATCCACTTACCATAAAGGAC	TCGA-G8-6324-01A-11D-2210-10	43888	51740388	82111507	6764	11872										
SLC4A8	9498	hgsc.bcm.edu	37	chr12	51855009	51855009	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgtttatcttattgggTccagtagggaaaggtcagca	11	5	2	0	rs150970094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:51855009T>G	ENST00000453097.2	+	9	1252	c.1035T>G	c.(1033-1035)ggT>ggG	p.G345G	SLC4A8_ENST00000514353.3_Silent_p.G292G|SLC4A8_ENST00000535225.2_Silent_p.G292G|SLC4A8_ENST00000358657.3_Silent_p.G372G|SLC4A8_ENST00000394856.1_Silent_p.G292G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTTATTGGGTCCAGTAGGGA	0.398													T|||	18	0.00359425	0.0136	0.0	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.0				p.G345G		Atlas-SNP	.											SLC4A8,back,malignant_melanoma,+2,1	SLC4A8	292	1	0			c.T1035G						PASS	.	T	,	38,4368	42.3+/-75.8	0,38,2165	155	142	147		1035,1035	-2.6	1	12	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC4A8	NM_001039960.1,NM_004858.2	,	0,38,6465	GG,GT,TT		0.0,0.8625,0.2922	,	345/1094,345/1045	51855009	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	9498	exon9			ATTGGGTCCAGTA	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1035T>G	12.37:g.51855009T>G		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	164	78	0.47561	NM_001039960		Silent	SNP	ENST00000453097.2	37	CCDS44890.1																																																																																			T|0.997;G|0.003	0.003	strong		0.398	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51855009	T	G	51855009	2	3	22	1	0	0	0	0	0	0	0	1	14659	1654	58	5		5	SLC4A8	12	51855009	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	114621	51855009	81996886	6765	11873										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52282060	52282060	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccagtgattgtgctccgCggagcctgggctgtgccccg	15	14	0	1	rs697634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52282060C>T	ENST00000340970.4	+	0	60				ANKRD33_ENST00000301190.6_Silent_p.R30R|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTGTGCTCCGCGGAGCCTGGG	0.567													C|||	1661	0.331669	0.149	0.451	5008	,	,		16569	0.4117		0.2952	False		,,,				2504	0.4489				p.R30R		Atlas-SNP	.											.	ANKRD33	33	.	0			c.C90T						PASS	.	C	,	681,3725	287.2+/-279.2	55,571,1577	101	93	95		,90	-4.7	0	12	dbSNP_86	95	2676,5924	429.8+/-356.3	396,1884,2020	no	utr-5,coding-synonymous	ANKRD33	NM_001130015.1,NM_182608.3	,	451,2455,3597	TT,TC,CC		31.1163,15.4562,25.8112	,	,30/453	52282060	3357,9649	2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405	exon1			GCTCCGCGGAGCC		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-312C>T	12.37:g.52282060C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	133	71	0.533835	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	CCDS44892.1																																																																																			C|0.719;T|0.281	0.281	strong		0.567	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52282060	C	T	52282060	1	4	22	0	1	0	0	0	0	0	0	0	661	755	27	1		1	ANKRD33	12	52282060	5'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	427051	52282060	81569835	6766	11874										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52282865	52282865	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcagacaggcctcatggtCgcatgctaccacggcttcca					rs35851809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52282865C>T	ENST00000340970.4	+	3	377	c.6C>T	c.(4-6)gtC>gtT	p.V2V	ANKRD33_ENST00000301190.6_Silent_p.V137V|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	2					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCCTCATGGTCGCATGCTACC	0.607													c|||	7	0.00139776	0.0053	0.0	5008	,	,		18277	0.0		0.0	False		,,,				2504	0.0				p.V137V		Atlas-SNP	.											.	ANKRD33	33	.	0			c.C411T						PASS	.	T	,	29,4377	35.2+/-66.4	1,27,2175	91	96	95		6,411	-1.1	0.7	12	dbSNP_126	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKRD33	NM_001130015.1,NM_182608.3	,	1,27,6475	TT,TC,CC		0.0,0.6582,0.223	,	2/273,137/453	52282865	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	341405	exon3			CATGGTCGCATGC		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.6C>T	12.37:g.52282865C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	CCDS44892.1																																																																																			C|0.998;T|0.002	0.002	strong		0.607	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52282865	C	T	52282865	2	4	22	1	0	0	0	0	0	0	0	1	661	871	31	1		1	ANKRD33	12	52282865	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	805	52282865	81569030	6767	11875	245	2								
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52282873	52282873	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctcatggtcgcatgctAccacggcttccagagtgttg					rs697636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52282873A>T	ENST00000340970.4	+	3	385	c.14A>T	c.(13-15)tAc>tTc	p.Y5F	ANKRD33_ENST00000301190.6_Missense_Mutation_p.Y140F|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	5			Y -> F (in dbSNP:rs697636). {ECO:0000269|PubMed:14702039}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GTCGCATGCTACCACGGCTTC	0.612													A|||	1622	0.323882	0.1241	0.4135	5008	,	,		18189	0.4216		0.3062	False		,,,				2504	0.4479				p.Y140F		Atlas-SNP	.											.	ANKRD33	33	.	0			c.A419T						PASS	.	A	PHE/TYR,PHE/TYR	634,3772	273.7+/-271.5	50,534,1619	98	100	100		14,419	1.5	0.9	12	dbSNP_86	100	2800,5800	443.6+/-360.4	437,1926,1937	yes	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	22,22	487,2460,3556	TT,TA,AA		32.5581,14.3895,26.4032	possibly-damaging,possibly-damaging	5/273,140/453	52282873	3434,9572	2203	4300	6503	SO:0001583	missense	341405	exon3			CATGCTACCACGG		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.14A>T	12.37:g.52282873A>T	ENSP00000344690:p.Tyr5Phe	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	103	45	0.436893	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	697	0.3191391941391941	64	0.13008130081300814	130	0.35911602209944754	259	0.4527972027972028	244	0.32189973614775724	A	6.397	0.441362	0.12164	0.143895	0.325581	ENSG00000167612	ENST00000301190;ENST00000340970	T;T	0.63913	-0.07;-0.07	3.98	1.46	0.22682	Ankyrin repeat-containing domain (3);	0.617999	0.14988	N	0.286846	T	0.00012	0.0000	L	0.31294	0.92	0.58432	P	1.0000000000287557E-6	B;D	0.61697	0.134;0.99	B;P	0.57911	0.038;0.829	T	0.36939	-0.9727	9	0.16896	T	0.51	-0.332	6.7499	0.23482	0.7939:0.0:0.2061:0.0	rs697636;rs1690235;rs17700775;rs59137362;rs697636	5;140	Q7Z3H0;Q7Z3H0-2	ANR33_HUMAN;.	F	140;5	ENSP00000301190:Y140F;ENSP00000344690:Y5F	ENSP00000301190:Y140F	Y	+	2	0	ANKRD33	50569140	0.005000	0.15991	0.930000	0.37139	0.049000	0.14656	-0.226000	0.09139	0.181000	0.19994	0.379000	0.24179	TAC	A|0.714;N|0.001	.	strong		0.612	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52282873	A	T	52282873	3	4	22	1	0	0	0	0	1	0	0	0	661	391	14	5	429	5	ANKRD33	12	52282873	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	52282873	81569022	6768	11876	245	2								
ACVRL1	94	hgsc.bcm.edu	37	chr12	52306898	52306898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggagaccctgtgaagcCgtctcggggcccgctggtga	15	13	1	3	rs199542304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52306898C>T	ENST00000388922.4	+	3	360	c.77C>T	c.(76-78)cCg>cTg	p.P26L	ACVRL1_ENST00000550683.1_Missense_Mutation_p.P40L|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	26					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGTGAAGCCGTCTCGGGGC	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		14365	0.002		0.0	False		,,,				2504	0.0				p.P26L		Atlas-SNP	.											.	ACVRL1	60	.	0			c.C77T						PASS	.	C	LEU/PRO,LEU/PRO	1,4371		0,1,2185	13	15	14		77,77	5.8	0.9	12		14	1,8567		0,1,4283	yes	missense,missense	ACVRL1	NM_000020.2,NM_001077401.1	98,98	0,2,6468	TT,TC,CC		0.0117,0.0229,0.0155	possibly-damaging,possibly-damaging	26/504,26/504	52306898	2,12938	2186	4284	6470	SO:0001583	missense	94	exon3			TGAAGCCGTCTCG	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.77C>T	12.37:g.52306898C>T	ENSP00000373574:p.Pro26Leu	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	42	12	0.285714	NM_000020	A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427822	0.62733	2.29E-4	1.17E-4	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.92149	-2.98;-2.98;-2.98	5.76	5.76	0.90799	.	0.343290	0.21467	N	0.074075	T	0.80649	0.4663	N	0.08118	0	0.80722	D	1	P	0.43750	0.816	B	0.27380	0.079	D	0.83667	0.0164	10	0.44086	T	0.13	.	15.4529	0.75290	0.0:1.0:0.0:0.0	.	26	P37023	ACVL1_HUMAN	L	26;26;40;40	ENSP00000373574:P26L;ENSP00000446724:P40L;ENSP00000447884:P40L	ENSP00000267008:P26L	P	+	2	0	ACVRL1	50593165	0.004000	0.15560	0.898000	0.35279	0.512000	0.34134	0.741000	0.26202	2.716000	0.92895	0.655000	0.94253	CCG	.	.	weak		0.657	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			T	52306898	C	T	52306898	3	4	22	1	0	0	0	0	1	0	0	0	225	652	23	1	83	1	ACVRL1	12	52306898	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24025	52306898	81544997	6769	11877										
ACVRL1	94	hgsc.bcm.edu	37	chr12	52308344	52308344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgagatctataacacagtGttgctcagacacgacaacat	7	10	2	2	rs1058563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52308344G>A	ENST00000388922.4	+	6	1030	c.747G>A	c.(745-747)gtG>gtA	p.V249V	ACVRL1_ENST00000550683.1_Silent_p.V263V|ACVRL1_ENST00000419526.2_Silent_p.V75V	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATAACACAGTGTTGCTCAGAC	0.592													G|||	231	0.0461262	0.1619	0.0159	5008	,	,		10490	0.0		0.006	False		,,,				2504	0.0				p.V249V		Atlas-SNP	.											.	ACVRL1	60	.	0			c.G747A						PASS	.	G	,	576,3830	254.3+/-259.9	37,502,1664	94	71	79		747,747	1.9	0.4	12	dbSNP_86	79	17,8583	11.2+/-40.8	0,17,4283	no	coding-synonymous,coding-synonymous	ACVRL1	NM_000020.2,NM_001077401.1	,	37,519,5947	AA,AG,GG		0.1977,13.0731,4.5594	,	249/504,249/504	52308344	593,12413	2203	4300	6503	SO:0001819	synonymous_variant	94	exon6			CACAGTGTTGCTC	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.747G>A	12.37:g.52308344G>A		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	221	113	0.511312	NM_000020	A6NGA8	Silent	SNP	ENST00000388922.4	37	CCDS31804.1																																																																																			G|0.957;A|0.043	0.043	strong		0.592	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			A	52308344	G	A	52308344	2	1	22	1	0	0	0	0	0	0	0	1	225	1364	48	2		2	ACVRL1	12	52308344	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1446	52308344	81543551	6770	11878										
ACVR1B	91	hgsc.bcm.edu	37	chr12	52370181	52370181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaggcatcatcgccggcccGgtgttcctcctgttcctcat	10	15	2	0	rs115556161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52370181G>A	ENST00000257963.4	+	3	479	c.402G>A	c.(400-402)ccG>ccA	p.P134P	ACVR1B_ENST00000415850.2_Silent_p.P134P|ACVR1B_ENST00000541224.1_Silent_p.P134P|ACVR1B_ENST00000426655.2_Silent_p.P134P|ACVR1B_ENST00000542485.1_Silent_p.P82P	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	134					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGCCGGCCCGGTGTTCCTCC	0.542													G|||	30	0.00599042	0.0219	0.0014	5008	,	,		19147	0.0		0.0	False		,,,				2504	0.0				p.P134P		Atlas-SNP	.											.	ACVR1B	167	.	0			c.G402A						PASS	.	G	,,	52,4354	52.9+/-88.7	0,52,2151	162	157	159		402,246,402	-10.8	0.7	12	dbSNP_132	159	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ACVR1B	NM_004302.4,NM_020327.3,NM_020328.3	,,	0,53,6450	AA,AG,GG		0.0116,1.1802,0.4075	,,	134/506,82/454,134/547	52370181	53,12953	2203	4300	6503	SO:0001819	synonymous_variant	91	exon3			CGGCCCGGTGTTC		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.402G>A	12.37:g.52370181G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	167	85	0.508982	NM_020328	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	CCDS8816.1																																																																																			G|0.994;A|0.006	0.006	strong		0.542	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		A	52370181	G	A	52370181	2	1	22	1	0	0	0	0	0	0	0	1	221	1103	39	1		1	ACVR1B	12	52370181	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61837	52370181	81481714	6771	11879										
KRT7	3855	hgsc.bcm.edu	37	chr12	52636843	52636843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcatggggacgacctccgGaatacccggaatgagatttc	12	10	0	1	rs10564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52636843G>A	ENST00000331817.5	+	6	1089	c.906G>A	c.(904-906)cgG>cgA	p.R302R	RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	302	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	ACGACCTCCGGAATACCCGGA	0.567													G|||	172	0.034345	0.1256	0.0086	5008	,	,		18629	0.0		0.0	False		,,,				2504	0.0				p.R302R		Atlas-SNP	.											KRT7,colon,carcinoma,+1,1	KRT7	48	1	0			c.G906A						PASS	.	G		434,3972	210.8+/-231.2	19,396,1788	74	69	70		906	-0.4	0.5	12	dbSNP_52	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT7	NM_005556.3		19,398,6086	AA,AG,GG		0.0233,9.8502,3.3523		302/470	52636843	436,12570	2203	4300	6503	SO:0001819	synonymous_variant	3855	exon6			CCTCCGGAATACC		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.906G>A	12.37:g.52636843G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	85	44	0.517647	NM_005556	Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	CCDS8822.1																																																																																			G|0.964;A|0.036	0.036	strong		0.567	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		A	52636843	G	A	52636843	2	1	22	1	0	0	0	0	0	0	0	1	8483	1161	41	2		2	KRT7	12	52636843	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	266662	52636843	81215052	6772	11880										
KRT81	3887	hgsc.bcm.edu	37	chr12	52685213	52685213	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgcaggccgagatgcagcTgaaggcgcgcccaccaaatc	12	16	0	2	rs79897879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52685213T>G	ENST00000327741.5	-	1	105	c.37A>C	c.(37-39)Agc>Cgc	p.S13R	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	13	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGATGCAGCTGAAGGCGCGC	0.672													t|||	501	0.10004	0.2284	0.0216	5008	,	,		12312	0.1141		0.003	False		,,,				2504	0.0675				p.S13R		Atlas-SNP	.											KRT81,NS,carcinoma,0,2	KRT81	46	2	0			c.A37C						scavenged	.	T	ARG/SER	878,3490		86,706,1392	22	27	25		37	5.2	1	12	dbSNP_131	25	27,8441		0,27,4207	yes	missense	KRT81	NM_002281.3	110	86,733,5599	GG,GT,TT		0.3188,20.1007,7.0505	probably-damaging	13/506	52685213	905,11931	2184	4234	6418	SO:0001583	missense	3887	exon1			TGCAGCTGAAGGC	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.37A>C	12.37:g.52685213T>G	ENSP00000369349:p.Ser13Arg	Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	34	21	0.617647	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	195	0.08928571428571429	117	0.23780487804878048	8	0.022099447513812154	67	0.11713286713286714	3	0.00395778364116095	T	17.99	3.523540	0.64747	0.201007	0.003188	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.83163	-1.69	5.17	5.17	0.71159	.	0.181068	0.26563	U	0.023676	T	0.00210	0.0006	M	0.75777	2.31	0.29183	P	0.876332	D	0.59357	0.985	D	0.65323	0.934	T	0.00002	-1.2612	9	0.72032	D	0.01	.	15.0178	0.71600	0.0:0.0:0.0:1.0	.	13	Q14533	KRT81_HUMAN	R	13	ENSP00000369349:S13R	ENSP00000369349:S13R	S	-	1	0	KRT81	50971480	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	3.117000	0.50407	1.943000	0.56356	0.448000	0.29417	AGC	T|0.923;G|0.077	0.077	strong		0.672	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		G	52685213	T	G	52685213	3	3	22	1	0	0	0	0	1	0	0	0	8495	1580	55	5	1516	5	KRT81	12	52685213	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48370	52685213	81166682	6773	11881										
KRT83	3889	hgsc.bcm.edu	37	chr12	52712975	52712975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcacctcctgcacgtgGttgagctctgaggccagcct	11	15	1	2	rs3741715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52712975G>A	ENST00000293670.3	-	2	620	c.558C>T	c.(556-558)aaC>aaT	p.N186N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	186	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCACGTGGTTGAGCTCTG	0.622													g|||	1816	0.36262	0.3654	0.3386	5008	,	,		16668	0.506		0.2823	False		,,,				2504	0.3108				p.N186N	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	Atlas-SNP	.											.	KRT83	64	.	0			c.C558T						PASS	.	G		1606,2800	498.4+/-364.1	307,992,904	139	146	144	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	558	4.8	1	12	dbSNP_107	144	2547,6053	415.2+/-351.7	403,1741,2156	no	coding-synonymous	KRT83	NM_002282.3		710,2733,3060	AA,AG,GG		29.6163,36.4503,31.9314		186/494	52712975	4153,8853	2203	4300	6503	SO:0001819	synonymous_variant	3889	exon2			CACGTGGTTGAGC	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.558C>T	12.37:g.52712975G>A		Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	411	195	0.474453	NM_002282	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	CCDS8823.1																																																																																			.	.	weak		0.622	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		A	52712975	G	A	52712975	2	1	22	1	0	0	0	0	0	0	0	1	8497	1252	44	2		2	KRT83	12	52712975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27762	52712975	81138920	6774	11882										
KRT84	3890	hgsc.bcm.edu	37	chr12	52774158	52774158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtactcaccggctctcctcGccctccagcaggcgcctgta	9	18	2	0	rs951772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52774158G>A	ENST00000257951.3	-	7	1479	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	471	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTCTCCTCGCCCTCCAGCA	0.577											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1657	0.330871	0.6165	0.317	5008	,	,		18924	0.1994		0.2068	False		,,,				2504	0.2178				p.G471G		Atlas-SNP	.											.	KRT84	61	.	0			c.C1413T						PASS	.	G		2449,1953		711,1027,463	37	39	38		1413	0.8	1	12	dbSNP_86	38	1798,6800		184,1430,2685	no	coding-synonymous	KRT84	NM_033045.3		895,2457,3148	AA,AG,GG		20.9118,44.3662,32.6692		471/601	52774158	4247,8753	2201	4299	6500	SO:0001819	synonymous_variant	3890	exon7			CTCCTCGCCCTCC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1413C>T	12.37:g.52774158G>A		Somatic	131	0	0	987	WXS	Illumina HiSeq	Phase_I	125	124	0.992	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			G|0.688;A|0.312	0.312	strong		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52774158	G	A	52774158	2	1	22	1	0	0	0	0	0	0	0	1	8498	1074	38	1		1	KRT84	12	52774158	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61183	52774158	81077737	6775	11883										
KRT84	3890	hgsc.bcm.edu	37	chr12	52774305	52774305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgccagcttgcatttggcAtcactgagggtcgcctcgcc	11	14	2	1	rs1732293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52774305A>G	ENST00000257951.3	-	7	1332	c.1266T>C	c.(1264-1266)gaT>gaC	p.D422D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	422	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCATTTGGCATCACTGAGGG	0.632											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1686	0.336661	0.6369	0.3184	5008	,	,		20415	0.2004		0.2068	False		,,,				2504	0.2178				p.D422D		Atlas-SNP	.											.	KRT84	61	.	0			c.T1266C						PASS	.	G		2537,1869	537.0+/-374.6	756,1025,422	46	38	41		1266	-10.1	0	12	dbSNP_89	41	1804,6796	726.4+/-406.6	180,1444,2676	no	coding-synonymous	KRT84	NM_033045.3		936,2469,3098	GG,GA,AA		20.9767,42.4194,33.3769		422/601	52774305	4341,8665	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon7			TTTGGCATCACTG	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1266T>C	12.37:g.52774305A>G		Somatic	111	0	0	987	WXS	Illumina HiSeq	Phase_I	112	112	1	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.682;G|0.318	0.318	strong		0.632	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52774305	A	G	52774305	2	3	22	1	0	0	0	0	0	0	0	1	8498	214	8	2		2	KRT84	12	52774305	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	147	52774305	81077590	6776	11884										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777439	52777439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggagccgggcctgatcActgaccagcacctccaactg	11	16	1	2	rs1614888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52777439A>G	ENST00000257951.3	-	2	756	c.690T>C	c.(688-690)agT>agC	p.S230S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	230	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCTGATCACTGACCAGCA	0.557													a|||	1663	0.332069	0.6172	0.3199	5008	,	,		20368	0.1954		0.2058	False		,,,				2504	0.226				p.S230S		Atlas-SNP	.											.	KRT84	61	.	0			c.T690C						PASS	.	G		2467,1939	621.9+/-393.8	717,1033,453	70	67	68		690	-10.6	0	12	dbSNP_89	68	1804,6796	324.3+/-316.4	180,1444,2676	no	coding-synonymous	KRT84	NM_033045.3		897,2477,3129	GG,GA,AA		20.9767,44.0082,32.8387		230/601	52777439	4271,8735	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon2			CTGATCACTGACC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.690T>C	12.37:g.52777439A>G		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.686;G|0.314	0.314	strong		0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52777439	A	G	52777439	2	3	22	1	0	0	0	0	0	0	0	1	8498	156	6	2		2	KRT84	12	52777439	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3134	52777439	81074456	6777	11885										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777513	52777513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctccagattgctcctgaTacatttctgctcttggagga	10	10	2	2	rs2245203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52777513T>C	ENST00000257951.3	-	2	682	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	206	Linker 1.|Rod.		I -> V (in dbSNP:rs2245203).		hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCCTGATACATTTCTGC	0.537													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		21008	0.1954		0.2068	False		,,,				2504	0.226				p.I206V		Atlas-SNP	.											.	KRT84	61	.	0			c.A616G						PASS	.	C	VAL/ILE	2466,1940	551.8+/-378.4	717,1032,454	77	76	76		616	3.1	1	12	dbSNP_100	76	1804,6796	733.1+/-406.9	180,1444,2676	yes	missense	KRT84	NM_033045.3	29	897,2476,3130	CC,CT,TT		20.9767,44.0309,32.831	benign	206/601	52777513	4270,8736	2203	4300	6503	SO:0001583	missense	3890	exon2			TCCTGATACATTT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.616A>G	12.37:g.52777513T>C	ENSP00000257951:p.Ile206Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	664	0.304029304029304	288	0.5853658536585366	100	0.27624309392265195	117	0.20454545454545456	159	0.20976253298153033	C	8.846	0.943350	0.18281	0.559691	0.209767	ENSG00000161849	ENST00000257951	D	0.88354	-2.37	5.32	3.07	0.35406	Filament (1);	0.423150	0.20341	N	0.094240	T	0.00012	0.0000	N	0.01515	-0.825	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.14656	T	0.56	.	9.4999	0.39011	0.0:0.735:0.0:0.265	rs2245203;rs58066728;rs2245203	206	Q9NSB2	KRT84_HUMAN	V	206	ENSP00000257951:I206V	ENSP00000257951:I206V	I	-	1	0	KRT84	51063780	0.006000	0.16342	0.989000	0.46669	0.760000	0.43138	0.122000	0.15687	0.440000	0.26502	-0.119000	0.15052	ATC	T|0.684;C|0.316	0.316	strong		0.537	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		C	52777513	T	C	52777513	3	2	22	1	0	0	0	0	1	0	0	0	8498	1406	49	2	1218	2	KRT84	12	52777513	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74	52777513	81074382	6778	11886										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777578	52777578	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattctgctgctctaggaacCgaacctaaatccacagggca					rs386763043|rs1613931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52777578C>T	ENST00000257951.3	-	2	617	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	184	Coil 1A.|Rod.		R -> Q (in dbSNP:rs1613931).		hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.R184L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTAGGAACCGAACCTAAAT	0.493													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		22846	0.1954		0.2068	False		,,,				2504	0.226				p.R184Q		Atlas-SNP	.											KRT84,colon,carcinoma,0,1	KRT84	61	1	1	Substitution - Missense(1)	large_intestine(1)	c.G551A						PASS	.	C	GLN/ARG	2138,2268		715,708,780	57	58	57		551	5.3	1	12	dbSNP_89	57	1299,7301		180,939,3181	yes	missense	KRT84	NM_033045.3	43	895,1647,3961	TT,TC,CC		15.1047,48.5247,26.4263	probably-damaging	184/601	52777578	3437,9569	2203	4300	6503	SO:0001583	missense	3890	exon2			AGGAACCGAACCT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.551G>A	12.37:g.52777578C>T	ENSP00000257951:p.Arg184Gln	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	76	75	0.986842	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	664	0.304029304029304	288	0.5853658536585366	100	0.27624309392265195	117	0.20454545454545456	159	0.20976253298153033	C	36	5.730439	0.96856	0.485247	0.151047	ENSG00000161849	ENST00000257951	D	0.92099	-2.97	5.32	5.32	0.75619	Filament (1);	0.000000	0.45867	D	0.000325	T	0.00012	0.0000	M	0.87180	2.865	0.21355	P	0.999713097	D	0.89917	1.0	D	0.91635	0.999	T	0.21415	-1.0246	9	0.72032	D	0.01	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs1613931;rs61083896	184	Q9NSB2	KRT84_HUMAN	Q	184	ENSP00000257951:R184Q	ENSP00000257951:R184Q	R	-	2	0	KRT84	51063845	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.903000	0.69877	2.941000	0.99782	0.655000	0.94253	CGG	C|0.686;T|0.314	0.314	strong		0.493	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		T	52777578	C	T	52777578	3	4	22	1	0	0	0	0	1	0	0	0	8498	652	23	1	1283	1	KRT84	12	52777578	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	65	52777578	81074317	6779	11887	246	2								
KRT84	3890	hgsc.bcm.edu	37	chr12	52777580	52777580	+	Silent	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgctgctctaggaaccgAacctaaatccacagggcaca					rs386763043|rs1613929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52777580A>C	ENST00000257951.3	-	2	615	c.549T>G	c.(547-549)gtT>gtG	p.V183V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	183	Coil 1A.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTAGGAACCGAACCTAAATCC	0.493													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		22989	0.1954		0.2068	False		,,,				2504	0.226				p.V183V		Atlas-SNP	.											.	KRT84	61	.	0			c.T549G						PASS	.	C		2127,2279		715,697,791	54	55	55		549	1.2	1	12	dbSNP_89	55	1290,7310		180,930,3190	yes	coding-synonymous	KRT84	NM_033045.3		895,1627,3981	CC,CA,AA		15.0,48.2751,26.2725		183/601	52777580	3417,9589	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon2			GAACCGAACCTAA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.549T>G	12.37:g.52777580A>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	70	0.972222	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.686;C|0.314	0.314	strong		0.493	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		C	52777580	A	C	52777580	2	2	22	1	0	0	0	0	0	0	0	1	8498	233	9	5		5	KRT84	12	52777580	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2	52777580	81074315	6780	11888	246	2								
KRT84	3890	hgsc.bcm.edu	37	chr12	52778947	52778947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagtaggctcttgttcacAgtcacagctgtgatagatgg	12	8	4	2	rs1791631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52778947A>G	ENST00000257951.3	-	1	489	c.423T>C	c.(421-423)acT>acC	p.T141T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	141	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTGTTCACAGTCACAGCTG	0.547													A|||	1691	0.33766	0.6354	0.3242	5008	,	,		18746	0.1954		0.2068	False		,,,				2504	0.226				p.T141T		Atlas-SNP	.											.	KRT84	61	.	0			c.T423C						PASS	.	A		2513,1893	628.2+/-395.1	741,1031,431	173	176	175		423	2.8	1	12	dbSNP_89	175	1805,6795	324.5+/-316.5	180,1445,2675	no	coding-synonymous	KRT84	NM_033045.3		921,2476,3106	GG,GA,AA		20.9884,42.9641,33.2001		141/601	52778947	4318,8688	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon1			GTTCACAGTCACA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.423T>C	12.37:g.52778947A>G		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.685;G|0.315	0.315	strong		0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52778947	A	G	52778947	2	3	22	1	0	0	0	0	0	0	0	1	8498	175	7	3		3	KRT84	12	52778947	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1367	52778947	81072948	6781	11889										
KRT84	3890	hgsc.bcm.edu	37	chr12	52779244	52779244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccaaggccccggaatccAggcccactccaacaggagac	10	17	0	1	rs1732304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52779244A>G	ENST00000257951.3	-	1	192	c.126T>C	c.(124-126)ccT>ccC	p.P42P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	42	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCGGAATCCAGGCCCACTCC	0.582													G|||	1389	0.277356	0.4183	0.3112	5008	,	,		19985	0.1944		0.2008	False		,,,				2504	0.227				p.P42P		Atlas-SNP	.											.	KRT84	61	.	0			c.T126C						PASS	.	G		1658,2748	649.0+/-398.8	352,954,897	66	75	72		126	-3.5	0	12	dbSNP_89	72	1733,6867	731.2+/-406.8	170,1393,2737	no	coding-synonymous	KRT84	NM_033045.3		522,2347,3634	GG,GA,AA		20.1512,37.6305,26.0726		42/601	52779244	3391,9615	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon1			GAATCCAGGCCCA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.126T>C	12.37:g.52779244A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.744;G|0.256	0.256	strong		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52779244	A	G	52779244	2	3	22	1	0	0	0	0	0	0	0	1	8498	175	7	3		3	KRT84	12	52779244	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	297	52779244	81072651	6782	11890										
KRT75	9119	hgsc.bcm.edu	37	chr12	52822464	52822464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgcggttcatttcagagaTctcttgtttggtgtttcgaa	10	7	3	1	rs2232402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52822464T>C	ENST00000252245.5	-	6	1319	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	367	Coil 2.|Rod.		I -> V (in dbSNP:rs2232402).		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATTTCAGAGATCTCTTGTTTG	0.512													T|||	103	0.0205671	0.0764	0.0029	5008	,	,		21269	0.0		0.0	False		,,,				2504	0.0				p.I367V		Atlas-SNP	.											KRT75,NS,carcinoma,+2,3	KRT75	75	3	0			c.A1099G						PASS	.	T	VAL/ILE	373,4033	189.2+/-215.4	16,341,1846	193	158	170		1099	5.2	1	12	dbSNP_98	170	1,8599		0,1,4299	yes	missense	KRT75	NM_004693.2	29	16,342,6145	CC,CT,TT		0.0116,8.4657,2.8756	probably-damaging	367/552	52822464	374,12632	2203	4300	6503	SO:0001583	missense	9119	exon6			CAGAGATCTCTTG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1099A>G	12.37:g.52822464T>C	ENSP00000252245:p.Ile367Val	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_004693	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	34	0.015567765567765568	33	0.06707317073170732	1	0.0027624309392265192	0	0.0	0	0.0	T	18.53	3.644098	0.67244	0.084657	1.16E-4	ENSG00000170454	ENST00000252245	D	0.89617	-2.54	5.18	5.18	0.71444	Prefoldin (1);Filament (1);	0.000000	0.51477	D	0.000081	T	0.59128	0.2171	M	0.81802	2.56	0.42420	D	0.992635	D	0.69078	0.997	D	0.70935	0.971	T	0.77680	-0.2497	10	0.66056	D	0.02	.	15.0403	0.71785	0.0:0.0:0.0:1.0	rs2232402;rs52796316;rs60556458;rs2232402	367	O95678	K2C75_HUMAN	V	367	ENSP00000252245:I367V	ENSP00000252245:I367V	I	-	1	0	KRT75	51108731	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	5.064000	0.64338	1.966000	0.57179	0.459000	0.35465	ATC	T|0.969;C|0.031	0.031	strong		0.512	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		C	52822464	T	C	52822464	3	2	22	1	0	0	0	0	1	0	0	0	8488	1435	50	2	572	2	KRT75	12	52822464	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43220	52822464	81029431	6783	11891										
KRT6B	3854	hgsc.bcm.edu	37	chr12	52844265	52844265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccgttcccccacgatgTtgtccagctgcctcctgagg	10	17	0	1	rs652423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52844265T>C	ENST00000252252.3	-	2	727	c.680A>G	c.(679-681)aAc>aGc	p.N227S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	227	Coil 1B.|Rod.		N -> S (in dbSNP:rs652423). {ECO:0000269|PubMed:2410904, ECO:0000269|PubMed:7543104}.		ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCCCACGATGTTGTCCAGCTG	0.577																																					p.N227S		Atlas-SNP	.											.	KRT6B	90	.	0			c.A680G						PASS	.	T	SER/ASN	1455,2951		207,1041,955	196	184	188		680	-1.9	0	12	dbSNP_83	188	2618,5982		109,2400,1791	no	missense	KRT6B	NM_005555.3	46	316,3441,2746	CC,CT,TT		30.4419,33.0232,31.3163	benign	227/565	52844265	4073,8933	2203	4300	6503	SO:0001583	missense	3854	exon2			ACGATGTTGTCCA	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.680A>G	12.37:g.52844265T>C	ENSP00000252252:p.Asn227Ser	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	383	181	0.472585	NM_005555	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	772	0.3534798534798535	193	0.39227642276422764	108	0.2983425414364641	241	0.42132867132867136	230	0.3034300791556728	T	0.014	-1.578709	0.00879	0.330232	0.304419	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.90620	-2.7	2.77	-1.87	0.07737	Filament (1);	0.650670	0.15055	N	0.283073	T	0.00012	0.0000	N	0.00996	-1.065	0.80722	P	0.0	B	0.18013	0.025	B	0.20577	0.03	T	0.09378	-1.0677	9	0.02654	T	1	.	5.5903	0.17297	0.121:0.4745:0.3226:0.0818	rs652423;rs1707773;rs2942779;rs7311892;rs11531212;rs58544103;rs652423	227	P04259	K2C6B_HUMAN	S	227	ENSP00000252252:N227S	ENSP00000252252:N227S	N	-	2	0	KRT6B	51130532	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.048000	0.03517	-0.421000	0.07416	-0.817000	0.03123	AAC	T|0.604;C|0.396	0.396	strong		0.577	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		C	52844265	T	C	52844265	3	2	22	1	0	0	0	0	1	0	0	0	8481	1725	60	2	1046	2	KRT6B	12	52844265	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21801	52844265	81007630	6784	11892										
KRT6C	286887	hgsc.bcm.edu	37	chr12	52865924	52865924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccccgttccccgacgatGctgtccagctgcctcctgag	11	18	0	1	rs77218649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52865924G>A	ENST00000252250.6	-	2	728	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	227	Coil 1B.|Rod.		S -> N (in dbSNP:rs17099602). {ECO:0000269|PubMed:7543104}.		intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCCCGACGATGCTGTCCAGCT	0.592													G|||	128	0.0255591	0.0961	0.0014	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.0				p.S227S		Atlas-SNP	.											.	KRT6C	55	.	0			c.C681T						PASS	.	G		354,4050		39,276,1887	135	87	103		681	-2.5	0	12	dbSNP_131	103	4,8524		1,2,4261	no	coding-synonymous	KRT6C	NM_173086.4		40,278,6148	AA,AG,GG		0.0469,8.0381,2.7683		227/565	52865924	358,12574	2202	4264	6466	SO:0001819	synonymous_variant	286887	exon2			GACGATGCTGTCC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.681C>T	12.37:g.52865924G>A		Somatic	340	0	0		WXS	Illumina HiSeq	Phase_I	398	189	0.474874	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																			G|0.976;A|0.024	0.024	strong		0.592	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52865924	G	A	52865924	2	1	22	1	0	0	0	0	0	0	0	1	8482	1310	46	2		2	KRT6C	12	52865924	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21659	52865924	80985971	6785	11893										
KRT6C	286887	hgsc.bcm.edu	37	chr12	52866060	52866060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttctgctgctctaggaacCgcacctggaagggaagcaag	13	10	2	0	rs11608915	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52866060C>T	ENST00000252250.6	-	2	592	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	182	Coil 1A.|Rod.		R -> Q (in dbSNP:rs11608915). {ECO:0000269|PubMed:15489334}.		intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCTAGGAACCGCACCTGGAA	0.547													C|||	2006	0.400559	0.1997	0.3271	5008	,	,		17211	0.506		0.4682	False		,,,				2504	0.546				p.R182Q		Atlas-SNP	.											.	KRT6C	55	.	0			c.G545A						PASS	.	C	GLN/ARG	1118,3284		196,726,1279	63	41	49		545	2.1	0.9	12	dbSNP_120	49	4107,4245		1573,961,1642	yes	missense	KRT6C	NM_173086.4	43	1769,1687,2921	TT,TC,CC		49.1739,25.3975,40.9675	probably-damaging	182/565	52866060	5225,7529	2201	4176	6377	SO:0001583	missense	286887	exon2			AGGAACCGCACCT	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.545G>A	12.37:g.52866060C>T	ENSP00000252250:p.Arg182Gln	Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	334	147	0.44012	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	826	0.3782051282051282	111	0.22560975609756098	119	0.3287292817679558	242	0.4230769230769231	354	0.46701846965699206	C	17.53	3.412329	0.62511	0.253975	0.491739	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.92099	-2.97	3.03	2.12	0.27331	Filament (1);	0.000000	0.56097	D	0.000035	T	0.00012	0.0000	M	0.88105	2.93	0.23227	P	0.99808916	D	0.71674	0.998	P	0.62184	0.899	T	0.00001	-1.2726	9	0.62326	D	0.03	.	11.1947	0.48707	0.0:0.9042:0.0:0.0958	rs11608915;rs11608915	182	P48668	K2C6C_HUMAN	Q	182;167	ENSP00000252250:R182Q	ENSP00000252250:R182Q	R	-	2	0	KRT6C	51152327	1.000000	0.71417	0.924000	0.36721	0.495000	0.33615	5.704000	0.68347	0.814000	0.34374	0.407000	0.27541	CGG	C|0.677;T|0.323	0.323	strong		0.547	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		T	52866060	C	T	52866060	3	4	22	1	0	0	0	0	1	0	0	0	8482	652	23	1	1181	1	KRT6C	12	52866060	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	136	52866060	80985835	6786	11894										
KRT71	112802	hgsc.bcm.edu	37	chr12	52946424	52946424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccctagaagacccaccttGtcgatgaaggaggcgaactt	12	11	0	3	rs61729863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52946424G>A	ENST00000267119.5	-	1	507	c.438C>T	c.(436-438)gaC>gaT	p.D146D		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	146	Coil 1A.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GACCCACCTTGTCGATGAAGG	0.537													G|||	187	0.0373403	0.1339	0.0144	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0				p.D146D		Atlas-SNP	.											.	KRT71	70	.	0			c.C438T						PASS	.	G		431,3975	208.5+/-229.5	28,375,1800	94	92	92		438	0.9	1	12	dbSNP_129	92	0,8600		0,0,4300	no	coding-synonymous	KRT71	NM_033448.2		28,375,6100	AA,AG,GG		0.0,9.7821,3.3139		146/524	52946424	431,12575	2203	4300	6503	SO:0001819	synonymous_variant	112802	exon1			CACCTTGTCGATG	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.438C>T	12.37:g.52946424G>A		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	208	87	0.418269	NM_033448	B3KVC1|Q3SY85|Q96DU2	Silent	SNP	ENST00000267119.5	37	CCDS8831.1																																																																																			G|0.970;A|0.030	0.030	strong		0.537	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		A	52946424	G	A	52946424	2	1	22	1	0	0	0	0	0	0	0	1	8484	1368	48	2		2	KRT71	12	52946424	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80364	52946424	80905471	6787	11895										
KRT71	112802	hgsc.bcm.edu	37	chr12	52946498	52946498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacgcactttctggatctCggggtccagctccacgttga	12	13	2	1	rs665470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52946498C>T	ENST00000267119.5	-	1	433	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	122	Head.		E -> K (in dbSNP:rs665470).		hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTCTGGATCTCGGGGTCCAGC	0.607													C|||	1017	0.203075	0.3351	0.1556	5008	,	,		18005	0.0208		0.2286	False		,,,				2504	0.2198				p.E122K		Atlas-SNP	.											.	KRT71	70	.	0			c.G364A						PASS	.	C	LYS/GLU	1322,3084	445.5+/-347.7	196,930,1077	107	102	104		364	4.8	1	12	dbSNP_83	104	2038,6562	355.1+/-329.8	250,1538,2512	yes	missense	KRT71	NM_033448.2	56	446,2468,3589	TT,TC,CC		23.6977,30.0045,25.8342	benign	122/524	52946498	3360,9646	2203	4300	6503	SO:0001583	missense	112802	exon1			GGATCTCGGGGTC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.364G>A	12.37:g.52946498C>T	ENSP00000267119:p.Glu122Lys	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	232	117	0.50431	NM_033448	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	383	0.17536630036630035	143	0.29065040650406504	60	0.16574585635359115	10	0.017482517482517484	170	0.22427440633245382	C	15.01	2.706774	0.48412	0.300045	0.236977	ENSG00000139648	ENST00000267119	T	0.75477	-0.94	4.82	4.82	0.62117	.	0.000000	0.45606	D	0.000344	T	0.00012	0.0000	M	0.88640	2.97	0.35215	P	0.22447700000000004	P	0.40107	0.703	B	0.27796	0.083	T	0.28902	-1.0029	9	0.51188	T	0.08	.	7.977	0.30161	0.0:0.6938:0.2167:0.0895	rs665470;rs1618791;rs17662526;rs665470	122	Q3SY84	K2C71_HUMAN	K	122	ENSP00000267119:E122K	ENSP00000267119:E122K	E	-	1	0	KRT71	51232765	0.000000	0.05858	0.956000	0.39512	0.941000	0.58515	-0.127000	0.10547	2.398000	0.81561	0.561000	0.74099	GAG	C|0.774;N|0.000	.	strong		0.607	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		T	52946498	C	T	52946498	3	4	22	1	0	0	0	0	1	0	0	0	8484	893	31	1	1243	1	KRT71	12	52946498	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74	52946498	80905397	6788	11896										
KRT71	112802	hgsc.bcm.edu	37	chr12	52946543	52946543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggaggctctcattgaCggtaacctggtggatgcctc	14	11	1	1	rs665522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52946543C>T	ENST00000267119.5	-	1	388	c.319G>A	c.(319-321)Gtc>Atc	p.V107I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	107	Head.		V -> I (in dbSNP:rs665522).		hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCTCATTGACGGTAACCTGG	0.617													C|||	1019	0.203474	0.3366	0.1556	5008	,	,		18020	0.0208		0.2286	False		,,,				2504	0.2198				p.V107I		Atlas-SNP	.											.	KRT71	70	.	0			c.G319A						PASS	.	C	ILE/VAL	1323,3083	445.7+/-347.8	196,931,1076	94	88	90		319	3	0.7	12	dbSNP_83	90	2037,6563	355.0+/-329.7	250,1537,2513	yes	missense	KRT71	NM_033448.2	29	446,2468,3589	TT,TC,CC		23.686,30.0272,25.8342	benign	107/524	52946543	3360,9646	2203	4300	6503	SO:0001583	missense	112802	exon1			CATTGACGGTAAC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.319G>A	12.37:g.52946543C>T	ENSP00000267119:p.Val107Ile	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	171	93	0.54386	NM_033448	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	383	0.17536630036630035	143	0.29065040650406504	60	0.16574585635359115	10	0.017482517482517484	170	0.22427440633245382	C	8.203	0.798579	0.16397	0.300272	0.23686	ENSG00000139648	ENST00000267119	T	0.76839	-1.05	4.82	3.0	0.34707	.	0.000000	0.40728	N	0.001039	T	0.00012	0.0000	L	0.37697	1.125	0.36952	P	0.10709500000000005	B	0.26147	0.143	B	0.21360	0.034	T	0.07501	-1.0769	9	0.23891	T	0.37	.	8.1494	0.31132	0.0:0.6857:0.0:0.3143	rs665522;rs1621577;rs17730179;rs665522	107	Q3SY84	K2C71_HUMAN	I	107	ENSP00000267119:V107I	ENSP00000267119:V107I	V	-	1	0	KRT71	51232810	0.001000	0.12720	0.740000	0.30986	0.941000	0.58515	-0.112000	0.10791	0.579000	0.29504	-0.258000	0.10820	GTC	C|0.784;T|0.216	0.216	strong		0.617	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		T	52946543	C	T	52946543	3	4	22	1	0	0	0	0	1	0	0	0	8484	536	19	1	1288	1	KRT71	12	52946543	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45	52946543	80905352	6789	11897										
KRT74	121391	hgsc.bcm.edu	37	chr12	52966390	52966390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgcagttgttcaggtccAgctgctgcagcagctcccac	10	14	2	0	rs11170176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52966390A>T	ENST00000305620.2	-	2	580	c.533T>A	c.(532-534)cTg>cAg	p.L178Q	KRT74_ENST00000549343.1_Missense_Mutation_p.L178Q	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	178	Linker 1.|Rod.		L -> Q (in dbSNP:rs11170176).		intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTTCAGGTCCAGCTGCTGCAG	0.557													A|||	1108	0.221246	0.2761	0.098	5008	,	,		20769	0.376		0.1193	False		,,,				2504	0.18				p.L178Q		Atlas-SNP	.											.	KRT74	67	.	0			c.T533A						PASS	.	A	GLN/LEU	1196,3210	417.4+/-337.9	170,856,1177	129	118	122		533	4.7	1	12	dbSNP_120	122	1086,7514	227.1+/-262.6	68,950,3282	no	missense	KRT74	NM_175053.3	113	238,1806,4459	TT,TA,AA		12.6279,27.1448,17.5457	benign	178/530	52966390	2282,10724	2203	4300	6503	SO:0001583	missense	121391	exon2			AGGTCCAGCTGCT	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.533T>A	12.37:g.52966390A>T	ENSP00000307240:p.Leu178Gln	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	271	148	0.546125	NM_175053	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	456	0.2087912087912088	126	0.25609756097560976	42	0.11602209944751381	189	0.3304195804195804	99	0.13060686015831136	A	15.55	2.865720	0.51588	0.271448	0.126279	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.87491	-2.26;-2.26	4.71	4.71	0.59529	Filament (1);	0.324202	0.17383	N	0.176247	T	0.00012	0.0000	N	0.00113	-2.09	0.29642	P	0.844674	P	0.40578	0.722	P	0.46452	0.517	T	0.48547	-0.9026	9	0.02654	T	1	.	5.812	0.18471	0.6142:0.1334:0.0:0.2524	rs11170176	178	Q7RTS7	K2C74_HUMAN	Q	178	ENSP00000447447:L178Q;ENSP00000307240:L178Q	ENSP00000307240:L178Q	L	-	2	0	KRT74	51252657	0.974000	0.33945	1.000000	0.80357	0.981000	0.71138	2.808000	0.47963	2.066000	0.61787	0.528000	0.53228	CTG	A|0.812;T|0.188	0.188	strong		0.557	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		T	52966390	A	T	52966390	3	4	22	1	0	0	0	0	1	0	0	0	8487	188	7	5	1088	5	KRT74	12	52966390	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19847	52966390	80885505	6790	11898										
KRT72	140807	hgsc.bcm.edu	37	chr12	52985293	52985293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggccttgctctttagggcAatctcctcgtactgggcacg	11	13	2	0	rs12824366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52985293A>G	ENST00000537672.2	-	5	928	c.918T>C	c.(916-918)atT>atC	p.I306I	KRT72_ENST00000354310.4_Silent_p.I306I|KRT72_ENST00000398066.3_Silent_p.I118I|KRT72_ENST00000293745.2_Silent_p.I306I	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	306	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCTTTAGGGCAATCTCCTCGT	0.597													G|||	1865	0.372404	0.1914	0.2406	5008	,	,		21236	0.5655		0.3638	False		,,,				2504	0.5204				p.I306I		Atlas-SNP	.											.	KRT72	70	.	0			c.T918C						PASS	.	G	,,	1138,3268	716.0+/-408.5	156,826,1221	156	117	130		918,918,918	-3.6	0	12	dbSNP_121	130	3279,5321	647.6+/-400.4	598,2083,1619	no	coding-synonymous,coding-synonymous,coding-synonymous	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	,,	754,2909,2840	GG,GA,AA		38.1279,25.8284,33.9612	,,	306/512,306/470,306/512	52985293	4417,8589	2203	4300	6503	SO:0001819	synonymous_variant	140807	exon5			TAGGGCAATCTCC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.918T>C	12.37:g.52985293A>G		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	259	121	0.467181	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1																																																																																			A|0.651;G|0.349	0.349	strong		0.597	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		G	52985293	A	G	52985293	2	3	22	1	0	0	0	0	0	0	0	1	8485	126	5	2		2	KRT72	12	52985293	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18903	52985293	80866602	6791	11899										
KRT72	140807	hgsc.bcm.edu	37	chr12	52986187	52986187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaagtccttaccccttcaTaaaggcacttgaagaattta	6	11	1	2	rs12833456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52986187T>C	ENST00000537672.2	-	4	801	c.791A>G	c.(790-792)tAt>tGt	p.Y264C	KRT72_ENST00000354310.4_Missense_Mutation_p.Y264C|KRT72_ENST00000293745.2_Missense_Mutation_p.Y264C|KRT72_ENST00000398066.3_Missense_Mutation_p.Y76C	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	264	Coil 1B.|Rod.		Y -> C (in dbSNP:rs12833456). {ECO:0000269|PubMed:14702039}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TACCCCTTCATAAAGGCACTT	0.498													T|||	1867	0.372804	0.1914	0.2406	5008	,	,		19422	0.5675		0.3638	False		,,,				2504	0.5204				p.Y264C		Atlas-SNP	.											.	KRT72	70	.	0			c.A791G						PASS	.	T	CYS/TYR,CYS/TYR,CYS/TYR	1138,3268	405.3+/-333.4	156,826,1221	97	87	91		791,791,791	3.7	1	12	dbSNP_121	91	3281,5319	491.9+/-373.2	598,2085,1617	yes	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	194,194,194	754,2911,2838	CC,CT,TT		38.1512,25.8284,33.9766	benign,benign,benign	264/512,264/470,264/512	52986187	4419,8587	2203	4300	6503	SO:0001583	missense	140807	exon4			CCTTCATAAAGGC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.791A>G	12.37:g.52986187T>C	ENSP00000441160:p.Tyr264Cys	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	100	57	0.57	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	785	0.35943223443223443	104	0.21138211382113822	83	0.2292817679558011	308	0.5384615384615384	290	0.38258575197889183	T	13.46	2.243523	0.39697	0.258284	0.381512	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.85	3.67	0.42095	Filament (1);	0.439409	0.19225	N	0.119562	T	0.00012	0.0000	H	0.95187	3.635	0.40029	P	0.024499999999999966	B	0.15473	0.013	B	0.29077	0.098	T	0.18085	-1.0348	9	0.72032	D	0.01	.	11.0777	0.48040	0.1435:0.0:0.0:0.8565	rs12833456;rs52803577;rs58274768;rs12833456	264	Q14CN4	K2C72_HUMAN	C	264;264;264;76	ENSP00000441160:Y264C;ENSP00000293745:Y264C;ENSP00000346269:Y264C;ENSP00000446151:Y76C	ENSP00000293745:Y264C	Y	-	2	0	KRT72	51272454	0.053000	0.20554	0.979000	0.43373	0.908000	0.53690	0.153000	0.16323	0.914000	0.36822	0.482000	0.46254	TAT	C|0.351;N|0.000	0.351	strong		0.498	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		C	52986187	T	C	52986187	3	2	22	1	0	0	0	0	1	0	0	0	8485	1406	49	2	768	2	KRT72	12	52986187	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	894	52986187	80865708	6792	11900										
KRT72	140807	hgsc.bcm.edu	37	chr12	52992812	52992812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcataaatgggctccaggtTcttcctgcagttgttcaagt	9	10	3	0	rs11170187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52992812T>C	ENST00000537672.2	-	2	521	c.511A>G	c.(511-513)Aac>Gac	p.N171D	KRT72_ENST00000354310.4_Missense_Mutation_p.N171D|KRT72_ENST00000293745.2_Missense_Mutation_p.N171D|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	171	Linker 1.|Rod.		N -> D (in dbSNP:rs11170187). {ECO:0000269|PubMed:14702039}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGCTCCAGGTTCTTCCTGCAG	0.557													T|||	1864	0.372204	0.1906	0.2406	5008	,	,		19466	0.5655		0.3638	False		,,,				2504	0.5204				p.N171D		Atlas-SNP	.											.	KRT72	70	.	0			c.A511G						PASS	.	T	ASP/ASN,ASP/ASN,ASP/ASN	1139,3267	405.5+/-333.5	156,827,1220	152	139	143		511,511,511	4.1	0.7	12	dbSNP_120	143	3282,5318	492.0+/-373.2	599,2084,1617	yes	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	23,23,23	755,2911,2837	CC,CT,TT		38.1628,25.8511,33.992	benign,benign,benign	171/512,171/470,171/512	52992812	4421,8585	2203	4300	6503	SO:0001583	missense	140807	exon2			CCAGGTTCTTCCT	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.511A>G	12.37:g.52992812T>C	ENSP00000441160:p.Asn171Asp	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	218	116	0.53211	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	784|784	0.358974358974359|0.358974358974359	103|103	0.20934959349593496|0.20934959349593496	83|83	0.2292817679558011|0.2292817679558011	308|308	0.5384615384615384|0.5384615384615384	290|290	0.38258575197889183|0.38258575197889183	T|T	15.93|15.93	2.978363|2.978363	0.53720|0.53720	0.258511|0.258511	0.381628|0.381628	ENSG00000170486|ENSG00000170486	ENST00000549979|ENST00000537672;ENST00000293745;ENST00000354310	.|T;T;T	.|0.71698	.|-0.59;-0.59;-0.59	5.25|5.25	4.08|4.08	0.47627|0.47627	.|Filament (1);	.|0.394845	.|0.21341	.|N	.|0.076127	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	P|P	0.9999999999996898|0.9999999999996898	.|B	.|0.15141	.|0.012	.|B	.|0.22880	.|0.042	T|T	0.38628|0.38628	-0.9652|-0.9652	4|9	.|0.62326	.|D	.|0.03	.|.	8.6797|8.6797	0.34201|0.34201	0.1276:0.0:0.1335:0.7389|0.1276:0.0:0.1335:0.7389	rs11170187;rs11170187|rs11170187;rs11170187	.|171	.|Q14CN4	.|K2C72_HUMAN	G|D	167|171	.|ENSP00000441160:N171D;ENSP00000293745:N171D;ENSP00000346269:N171D	.|ENSP00000293745:N171D	E|N	-|-	2|1	0|0	KRT72|KRT72	51279079|51279079	0.988000|0.988000	0.35896|0.35896	0.702000|0.702000	0.30337|0.30337	0.982000|0.982000	0.71751|0.71751	2.780000|2.780000	0.47742|0.47742	1.065000|1.065000	0.40693|0.40693	0.459000|0.459000	0.35465|0.35465	GAA|AAC	T|0.649;C|0.351	0.351	strong		0.557	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		C	52992812	T	C	52992812	3	2	22	1	0	0	0	0	1	0	0	0	8485	1783	62	2	1056	2	KRT72	12	52992812	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6625	52992812	80859083	6793	11901										
KRT72	140807	hgsc.bcm.edu	37	chr12	52994955	52994955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacctgagggatgcccccGggtgggcacacggagggaca	18	11	0	2	rs61747192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52994955G>A	ENST00000537672.2	-	1	292	c.282C>T	c.(280-282)ccC>ccT	p.P94P	KRT72_ENST00000354310.4_Silent_p.P94P|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Silent_p.P94P|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	94	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGATGCCCCCGGGTGGGCACA	0.746													G|||	876	0.17492	0.0862	0.0879	5008	,	,		14031	0.4444		0.1223	False		,,,				2504	0.1329				p.P94P		Atlas-SNP	.											.	KRT72	70	.	0			c.C282T						PASS	.	G	,,	506,3900	229.8+/-244.2	34,438,1731	35	36	36		282,282,282	-8.3	0.1	12	dbSNP_131	36	1080,7520	223.3+/-260.1	68,944,3288	no	coding-synonymous,coding-synonymous,coding-synonymous	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	,,	102,1382,5019	AA,AG,GG		12.5581,11.4843,12.1944	,,	94/512,94/470,94/512	52994955	1586,11420	2203	4300	6503	SO:0001819	synonymous_variant	140807	exon1			GCCCCCGGGTGGG	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.282C>T	12.37:g.52994955G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1	424	0.19413919413919414	42	0.08536585365853659	33	0.09116022099447514	254	0.44405594405594406	95	0.12532981530343007	G	13.71	2.316979	0.40996	0.114843	0.125581	ENSG00000170486	ENST00000549979	.	.	.	4.49	-8.29	0.01009	.	0.000000	0.52532	D	0.000075	T	0.00012	0.0000	.	.	.	0.22446	P	0.999095179	.	.	.	.	.	.	T	0.28038	-1.0056	4	.	.	.	.	3.2959	0.06966	0.2814:0.4304:0.1238:0.1645	.	.	.	.	L	80	.	.	P	-	2	0	KRT72	51281222	0.000000	0.05858	0.051000	0.19133	0.895000	0.52256	-7.169000	0.00042	-1.814000	0.01224	-0.311000	0.09066	CCG	G|0.856;A|0.144	0.144	strong		0.746	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		A	52994955	G	A	52994955	2	1	22	1	0	0	0	0	0	0	0	1	8485	1103	39	1		1	KRT72	12	52994955	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2143	52994955	80856940	6794	11902										
KRT72	140807	hgsc.bcm.edu	37	chr12	52995127	52995127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggccgagcccttgaccCgggcccggaatgaggcggag	18	12	0	2	rs61747194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:52995127C>T	ENST00000537672.2	-	1	120	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	KRT72_ENST00000354310.4_Missense_Mutation_p.R37Q|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Missense_Mutation_p.R37Q|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	37	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCCCTTGACCCGGGCCCGGAA	0.726													C|||	67	0.0133786	0.0484	0.0029	5008	,	,		12331	0.0		0.001	False		,,,				2504	0.0				p.R37Q		Atlas-SNP	.											.	KRT72	70	.	0			c.G110A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	143,3439		0,143,1648	3	4	3		110,110,110	4	0.1	12	dbSNP_129	3	3,7115		0,3,3556	yes	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	43,43,43	0,146,5204	TT,TC,CC		0.0421,3.9922,1.3645	benign,benign,benign	37/512,37/470,37/512	52995127	146,10554	1791	3559	5350	SO:0001583	missense	140807	exon1			TTGACCCGGGCCC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.110G>A	12.37:g.52995127C>T	ENSP00000441160:p.Arg37Gln	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	29|29	0.013278388278388278|0.013278388278388278	27|27	0.054878048780487805|0.054878048780487805	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	14.43|14.43	2.532485|2.532485	0.45073|0.45073	0.039922|0.039922	4.21E-4|4.21E-4	ENSG00000170486|ENSG00000170486	ENST00000549979|ENST00000537672;ENST00000293745;ENST00000354310	.|T;T;T	.|0.75260	.|-0.92;-0.92;-0.92	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.27053|0.27053	0.805|0.805	0.19575|0.19575	N|N	0.999962|0.999962	.|B;B	.|0.18610	.|0.016;0.029	.|B;B	.|0.21708	.|0.001;0.036	T|T	0.34229|0.34229	-0.9837|-0.9837	5|10	.|0.52906	.|T	.|0.07	.|.	9.2743|9.2743	0.37690|0.37690	0.1593:0.6857:0.155:0.0|0.1593:0.6857:0.155:0.0	.|.	.|37;37	.|B4DEI8;Q14CN4	.|.;K2C72_HUMAN	R|Q	23|37	.|ENSP00000441160:R37Q;ENSP00000293745:R37Q;ENSP00000346269:R37Q	.|ENSP00000293745:R37Q	G|R	-|-	1|2	0|0	KRT72|KRT72	51281394|51281394	.|.	.|.	0.107000|0.107000	0.21349|0.21349	0.130000|0.130000	0.20726|0.20726	.|.	.|.	2.543000|2.543000	0.85770|0.85770	0.561000|0.561000	0.74099|0.74099	GGG|CGG	C|0.987;T|0.013	0.013	strong		0.726	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52995127	C	T	52995127	3	4	22	1	0	0	0	0	1	0	0	0	8485	652	23	1	1461	1	KRT72	12	52995127	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	172	52995127	80856768	6795	11903										
KRT73	319101	hgsc.bcm.edu	37	chr12	53005004	53005004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacctgcttcttcacactcTcaatctccgagcgcagtctt	5	16	6	0	rs607426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53005004T>C	ENST00000305748.3	-	6	1128	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	365	Coil 2.|Rod.		E -> G (in dbSNP:rs607426).			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCACACTCTCAATCTCCGA	0.567													T|||	104	0.0207668	0.0764	0.0043	5008	,	,		20476	0.0		0.0	False		,,,				2504	0.0				p.E365G		Atlas-SNP	.											.	KRT73	101	.	0			c.A1094G						PASS	.	T	GLY/GLU	214,4192	129.8+/-166.5	5,204,1994	144	125	131		1094	5.6	1	12	dbSNP_83	131	1,8599		0,1,4299	yes	missense	KRT73	NM_175068.2	98	5,205,6293	CC,CT,TT		0.0116,4.857,1.6531	benign	365/541	53005004	215,12791	2203	4300	6503	SO:0001583	missense	319101	exon6			ACACTCTCAATCT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1094A>G	12.37:g.53005004T>C	ENSP00000307014:p.Glu365Gly	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	211	97	0.459716	NM_175068	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	29	0.013278388278388278	27	0.054878048780487805	2	0.0055248618784530384	0	0.0	0	0.0	T	12.93	2.086766	0.36855	0.04857	1.16E-4	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.89746	-2.56;-2.56	5.61	5.61	0.85477	Filament (1);	0.000000	0.53938	D	0.000057	T	0.63896	0.2550	M	0.83603	2.65	0.37997	D	0.934108	B	0.06786	0.001	B	0.13407	0.009	T	0.79019	-0.1974	10	0.44086	T	0.13	.	11.2067	0.48773	0.0:0.0715:0.0:0.9285	rs607426;rs1352442;rs1707745	365	Q86Y46	K2C73_HUMAN	G	365;110	ENSP00000307014:E365G;ENSP00000449081:E110G	ENSP00000307014:E365G	E	-	2	0	KRT73	51291271	0.995000	0.38212	0.995000	0.50966	0.919000	0.55068	3.762000	0.55250	2.276000	0.75962	0.454000	0.30748	GAG	T|0.980;C|0.020	0.020	strong		0.567	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		C	53005004	T	C	53005004	3	2	22	1	0	0	0	0	1	0	0	0	8486	1551	54	3	544	3	KRT73	12	53005004	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9877	53005004	80846891	6796	11904										
KRT73	319101	hgsc.bcm.edu	37	chr12	53011955	53011955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcagggtccagctccacGttcaggggtgccaggaggct	14	11	2	0	rs61736102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53011955G>A	ENST00000305748.3	-	1	388	c.354C>T	c.(352-354)aaC>aaT	p.N118N	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	118	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTCCACGTTCAGGGGTG	0.592													G|||	1004	0.200479	0.152	0.1023	5008	,	,		16598	0.4454		0.1471	False		,,,				2504	0.138				p.N118N		Atlas-SNP	.											.	KRT73	101	.	0			c.C354T						PASS	.	G		675,3731	285.2+/-278.0	54,567,1582	124	125	125		354	-1.9	1	12	dbSNP_129	125	1284,7316	254.1+/-279.5	96,1092,3112	no	coding-synonymous	KRT73	NM_175068.2		150,1659,4694	AA,AG,GG		14.9302,15.32,15.0623		118/541	53011955	1959,11047	2203	4300	6503	SO:0001819	synonymous_variant	319101	exon1			CTCCACGTTCAGG	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.354C>T	12.37:g.53011955G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	214	214	1	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																			G|0.827;A|0.173	0.173	strong		0.592	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		A	53011955	G	A	53011955	2	1	22	1	0	0	0	0	0	0	0	1	8486	1136	40	1		1	KRT73	12	53011955	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6951	53011955	80839940	6797	11905										
KRT3	3850	hgsc.bcm.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaaagccaccaggaccaCcaaagccaccagcccctcca					rs148531142|rs184322044|rs142692092		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																					p.133_138del		Pindel	.											.	KRT3	65	.	0			c.397_414del						PASS	.			595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850	exon1			.		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del	Somatic	162	.	.		WXS	Illumina HiSeq	Phase_I	167	35	0.21	NM_057088	A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	CCDS44895.1																																																																																			.	.	none		0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	22	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-G8-6324-01A-11D-2210-10	177459	53189414	80662481	6798	11906										
KRT4	3851	hgsc.bcm.edu	37	chr12	53205757	53205757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattctgttgctctaagaacTgcacctgtgttgataaaggc	9	8	2	2	rs7959052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53205757T>C	ENST00000551956.1	-	2	959	c.467A>G	c.(466-468)cAg>cGg	p.Q156R	KRT4_ENST00000293774.4_Missense_Mutation_p.Q230R|KRT4_ENST00000458244.2_Missense_Mutation_p.Q136R			P19013	K2C4_HUMAN	keratin 4	170	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTCTAAGAACTGCACCTGTGT	0.542													C|||	1352	0.269968	0.643	0.1254	5008	,	,		19076	0.1052		0.1491	False		,,,				2504	0.1626				p.Q156R	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											.	KRT4	110	.	0			c.A467G						PASS	.	C	ARG/GLN	2297,1913		622,1053,430	56	60	59		467	4.4	1	12	dbSNP_116	59	1511,6981		146,1219,2881	yes	missense	KRT4	NM_002272.3	43	768,2272,3311	CC,CT,TT		17.7932,45.4394,29.9795	benign	156/521	53205757	3808,8894	2105	4246	6351	SO:0001583	missense	3851	exon2			AAGAACTGCACCT		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.467A>G	12.37:g.53205757T>C	ENSP00000448220:p.Gln156Arg	Somatic	310	1	0.00322581		WXS	Illumina HiSeq	Phase_I	281	141	0.501779	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	510	0.23351648351648352	295	0.5995934959349594	53	0.1464088397790055	42	0.07342657342657342	120	0.158311345646438	C	9.302	1.053361	0.19907	0.545606	0.177932	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.84223	-1.82;-1.82;-1.82	4.41	4.41	0.53225	Filament (1);	0.000000	0.43416	N	0.000566	T	0.00012	0.0000	N	0.00025	-2.685	0.50039	P	1.60000000000049E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	9	0.02654	T	1	.	13.6387	0.62237	0.0:0.9237:0.0:0.0763	rs7959052;rs11538841;rs61013411;rs7959052	170	P19013	K2C4_HUMAN	R	156;230;136	ENSP00000448220:Q156R;ENSP00000293774:Q230R;ENSP00000387904:Q136R	ENSP00000293774:Q230R	Q	-	2	0	KRT4	51492024	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.970000	0.56824	1.477000	0.48234	-0.215000	0.12644	CAG	C|0.245;N|0.000	0.245	strong		0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		C	53205757	T	C	53205757	3	2	22	1	0	0	0	0	1	0	0	0	8477	1580	55	3	1127	3	KRT4	12	53205757	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16343	53205757	80646138	6799	11907										
KRT4	3851	hgsc.bcm.edu	37	chr12	53207628	53207628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagcacccccaaagcagGcaccttgtcgtgacccagcc	8	19	0	1	rs2638525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53207628G>A	ENST00000551956.1	-	1	707	c.215C>T	c.(214-216)gCc>gTc	p.A72V	KRT4_ENST00000293774.4_Missense_Mutation_p.A146V|KRT4_ENST00000458244.2_Missense_Mutation_p.A52V			P19013	K2C4_HUMAN	keratin 4	72	Gly-rich.|Head.		A -> V (in allele K4A1). {ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCAAAGCAGGCACCTTGTCG	0.607													G|||	1110	0.221645	0.4576	0.1225	5008	,	,		15658	0.1091		0.1481	False		,,,				2504	0.1646				p.A72V	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											.	KRT4	110	.	0			c.C215T						PASS	.	G	VAL/ALA	1611,2567		322,967,800	96	114	108		215	1	0	12	dbSNP_100	108	1480,6978		141,1198,2890	yes	missense	KRT4	NM_002272.3	64	463,2165,3690	AA,AG,GG		17.4982,38.5591,24.4619	benign	72/521	53207628	3091,9545	2089	4229	6318	SO:0001583	missense	3851	exon1			AAGCAGGCACCTT		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.215C>T	12.37:g.53207628G>A	ENSP00000448220:p.Ala72Val	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	415	0.190018315018315	202	0.4105691056910569	52	0.143646408839779	42	0.07342657342657342	119	0.15699208443271767	G	2.781	-0.253445	0.05829	0.385591	0.174982	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.88818	-2.43;2.13;-2.27	5.14	1.03	0.20045	.	0.300384	0.24229	N	0.040380	T	0.00012	0.0000	L	0.42686	1.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.04165	-1.0972	7	0.36615	T	0.2	.	7.4829	0.27415	0.0695:0.4533:0.3654:0.1118	rs2638525;rs41423744;rs58915602;rs2638525	.	.	.	V	72;146;52	ENSP00000448220:A72V;ENSP00000293774:A146V;ENSP00000387904:A52V	ENSP00000293774:A146V	A	-	2	0	KRT4	51493895	0.000000	0.05858	0.025000	0.17156	0.484000	0.33280	-0.114000	0.10757	0.072000	0.16694	0.585000	0.79938	GCC	G|0.795;A|0.205	0.205	strong		0.607	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53207628	G	A	53207628	3	1	22	1	0	0	0	0	1	0	0	0	8477	1203	42	2	1383	2	KRT4	12	53207628	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1871	53207628	80644267	6800	11908										
KRT79	338785	hgsc.bcm.edu	37	chr12	53215684	53215684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggctggacgtcttgaccGtagtggtcttccgcaggatg	14	10	3	1	rs73303800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53215684G>A	ENST00000330553.5	-	9	1614	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	527	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGTCTTGACCGTAGTGGTCTT	0.622													G|||	44	0.00878594	0.0318	0.0029	5008	,	,		17021	0.0		0.0	False		,,,				2504	0.0				p.T527M		Atlas-SNP	.											.	KRT79	78	.	0			c.C1580T						PASS	.	G	MET/THR	121,4285	90.6+/-129.3	3,115,2085	58	44	48		1580	4	1	12	dbSNP_130	48	2,8598	1.2+/-3.3	0,2,4298	yes	missense	KRT79	NM_175834.2	81	3,117,6383	AA,AG,GG		0.0233,2.7463,0.9457	probably-damaging	527/536	53215684	123,12883	2203	4300	6503	SO:0001583	missense	338785	exon9			TTGACCGTAGTGG	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1580C>T	12.37:g.53215684G>A	ENSP00000328358:p.Thr527Met	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_175834	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	18.23	3.578041	0.65878	0.027463	2.33E-4	ENSG00000185640	ENST00000330553	D	0.83075	-1.68	3.97	3.97	0.46021	.	0.000000	0.47852	D	0.000213	T	0.75824	0.3902	M	0.61703	1.905	0.37441	D	0.914404	D	0.89917	1.0	D	0.78314	0.991	D	0.85029	0.0916	10	0.72032	D	0.01	.	11.8409	0.52353	0.0:0.0:1.0:0.0	.	527	Q5XKE5	K2C79_HUMAN	M	527	ENSP00000328358:T527M	ENSP00000328358:T527M	T	-	2	0	KRT79	51501951	0.969000	0.33509	1.000000	0.80357	0.997000	0.91878	1.735000	0.38176	2.516000	0.84829	0.655000	0.94253	ACG	G|0.990;A|0.010	0.010	strong		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		A	53215684	G	A	53215684	3	1	22	1	0	0	0	0	1	0	0	0	8492	1145	40	1	31	1	KRT79	12	53215684	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8056	53215684	80636211	6801	11909										
KRT79	338785	hgsc.bcm.edu	37	chr12	53227803	53227803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccccagagcccgccccAacaaggcccctccggccaca	8	23	0	1	rs2638497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53227803A>G	ENST00000330553.5	-	1	276	c.242T>C	c.(241-243)tTg>tCg	p.L81S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	81	Head.		L -> S (in dbSNP:rs2638497). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCCCGCCCCAACAAGGCCCC	0.647													G|||	3704	0.739617	0.8381	0.6138	5008	,	,		12534	0.7966		0.6044	False		,,,				2504	0.7761				p.L81S		Atlas-SNP	.											KRT79,NS,carcinoma,+1,1	KRT79	78	1	0			c.T242C						PASS	.	G	SER/LEU	3514,888		1409,696,96	23	30	28		242	3.4	0	12	dbSNP_100	28	4947,3651		1447,2053,799	yes	missense	KRT79	NM_175834.2	145	2856,2749,895	GG,GA,AA		42.4634,20.1726,34.9154	benign	81/536	53227803	8461,4539	2201	4299	6500	SO:0001583	missense	338785	exon1			CGCCCCAACAAGG	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.242T>C	12.37:g.53227803A>G	ENSP00000328358:p.Leu81Ser	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_175834	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	1521	0.6964285714285714	405	0.823170731707317	219	0.6049723756906077	447	0.7814685314685315	450	0.5936675461741425	G	0.043	-1.278312	0.01410	0.798274	0.575366	ENSG00000185640	ENST00000330553	T	0.18502	2.21	4.28	3.39	0.38822	.	0.980624	0.08301	N	0.966946	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	0.21014	T	0.42	.	8.5716	0.33572	0.2617:0.0:0.7383:0.0	rs2638497;rs17846647;rs17859742;rs57759231;rs2638497	81	Q5XKE5	K2C79_HUMAN	S	81	ENSP00000328358:L81S	ENSP00000328358:L81S	L	-	2	0	KRT79	51514070	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.450000	0.21762	0.754000	0.32968	-0.186000	0.12905	TTG	A|0.331;G|0.669	0.669	strong		0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		G	53227803	A	G	53227803	3	3	22	1	0	0	0	0	1	0	0	0	8492	131	5	2	1401	2	KRT79	12	53227803	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12119	53227803	80624092	6802	11910										
KRT78	196374	hgsc.bcm.edu	37	chr12	53238387	53238387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagccttgctgctccgggCgatctcctcgtaccgggcgc	12	17	2	0	rs61764061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53238387C>T	ENST00000304620.4	-	5	940	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	KRT78_ENST00000359499.4_Missense_Mutation_p.A183T	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	293	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCTCCGGGCGATCTCCTCG	0.622													C|||	615	0.122804	0.2239	0.0173	5008	,	,		19876	0.2282		0.0119	False		,,,				2504	0.0665				p.A293T		Atlas-SNP	.											.	KRT78	41	.	0			c.G877A						PASS	.	C	THR/ALA	944,3462	359.6+/-314.9	108,728,1367	122	91	101		877	1.2	0	12	dbSNP_129	101	98,8502	54.0+/-114.7	1,96,4203	yes	missense	KRT78	NM_173352.2	58	109,824,5570	TT,TC,CC		1.1395,21.4253,8.0117	benign	293/521	53238387	1042,11964	2203	4300	6503	SO:0001583	missense	196374	exon5			TCCGGGCGATCTC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.877G>A	12.37:g.53238387C>T	ENSP00000306261:p.Ala293Thr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	53	51	0.962264	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	229	0.10485347985347986	100	0.2032520325203252	5	0.013812154696132596	115	0.20104895104895104	9	0.011873350923482849	C	20.5	4.000530	0.74818	0.214253	0.011395	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.90620	-2.7;-2.7	5.07	1.16	0.20824	Filament (1);	.	.	.	.	T	0.00384	0.0012	M	0.72894	2.215	0.34272	P	0.31884199999999996	P	0.38597	0.639	B	0.33254	0.16	T	0.05338	-1.0891	8	0.72032	D	0.01	.	9.0529	0.36387	0.0:0.6929:0.0:0.3071	rs61764061	293	Q8N1N4	K2C78_HUMAN	T	183;293;64	ENSP00000352479:A183T;ENSP00000306261:A293T	ENSP00000306261:A293T	A	-	1	0	KRT78	51524654	0.672000	0.27530	0.005000	0.12908	0.003000	0.03518	1.364000	0.34171	0.006000	0.14734	0.563000	0.77884	GCC	C|0.918;T|0.082	0.082	strong		0.622	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		T	53238387	C	T	53238387	3	4	22	1	0	0	0	0	1	0	0	0	8491	768	27	1	705	1	KRT78	12	53238387	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10584	53238387	80613508	6803	11911										
KRT78	196374	hgsc.bcm.edu	37	chr12	53240025	53240025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagaggtactctctcagagCctccagcttgccctccaact	8	15	2	2	rs10876360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53240025C>T	ENST00000304620.4	-	4	775	c.712G>A	c.(712-714)Gct>Act	p.A238T	KRT78_ENST00000359499.4_Missense_Mutation_p.A128T	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	238	Coil 1B.|Rod.		A -> T (in dbSNP:rs10876360).			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCTCAGAGCCTCCAGCTTG	0.552													T|||	912	0.182109	0.4418	0.0303	5008	,	,		18231	0.2282		0.0119	False		,,,				2504	0.0665				p.A238T		Atlas-SNP	.											.	KRT78	41	.	0			c.G712A						PASS	.	T	THR/ALA	1673,2733	654.8+/-399.8	327,1019,857	94	79	84		712	-2.1	0	12	dbSNP_120	84	101,8499	814.9+/-407.0	1,99,4200	yes	missense	KRT78	NM_173352.2	58	328,1118,5057	TT,TC,CC		1.1744,37.9709,13.6399	benign	238/521	53240025	1774,11232	2203	4300	6503	SO:0001583	missense	196374	exon4			TCAGAGCCTCCAG	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.712G>A	12.37:g.53240025C>T	ENSP00000306261:p.Ala238Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	333	0.15247252747252749	200	0.4065040650406504	9	0.024861878453038673	115	0.20104895104895104	9	0.011873350923482849	T	1.697	-0.502457	0.04261	0.379709	0.011744	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.88277	-2.36;-2.36;-2.36	4.45	-2.12	0.07165	Filament (1);	.	.	.	.	T	0.00012	0.0000	N	0.02103	-0.685	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.12293	-1.0553	8	0.18710	T	0.47	.	5.0491	0.14499	0.4862:0.2819:0.0:0.2318	rs10876360;rs52810718;rs10876360	238	Q8N1N4	K2C78_HUMAN	T	128;238;9;9	ENSP00000352479:A128T;ENSP00000306261:A238T;ENSP00000447817:A9T	ENSP00000306261:A238T	A	-	1	0	KRT78	51526292	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-2.571000	0.00913	-0.617000	0.05664	-1.419000	0.01111	GCT	C|0.848;T|0.152	0.152	strong		0.552	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		T	53240025	C	T	53240025	3	4	22	1	0	0	0	0	1	0	0	0	8491	739	26	2	874	2	KRT78	12	53240025	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1638	53240025	80611870	6804	11912										
KRT78	196374	hgsc.bcm.edu	37	chr12	53240584	53240584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcgttctcaagtgtggcAcgcctgtgggcctcctcctc	11	14	1	0	rs2682342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53240584A>G	ENST00000304620.4	-	3	687	c.624T>C	c.(622-624)cgT>cgC	p.R208R	KRT78_ENST00000359499.4_Silent_p.R98R	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	208	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAGTGTGGCACGCCTGTGGG	0.567													G|||	1564	0.3123	0.6331	0.2421	5008	,	,		19681	0.3393		0.0934	False		,,,				2504	0.1258				p.R208R		Atlas-SNP	.											KRT78,caecum,carcinoma,-1,1	KRT78	41	1	0			c.T624C						PASS	.	G		2377,2029	562.8+/-381.0	642,1093,468	88	64	72		624	-4.8	0	12	dbSNP_100	72	850,7750	779.8+/-407.7	39,772,3489	no	coding-synonymous	KRT78	NM_173352.2		681,1865,3957	GG,GA,AA		9.8837,46.0508,24.8116		208/521	53240584	3227,9779	2203	4300	6503	SO:0001819	synonymous_variant	196374	exon3			TGTGGCACGCCTG	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.624T>C	12.37:g.53240584A>G		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	29	29	1	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	CCDS8840.1																																																																																			A|0.737;G|0.263	0.263	strong		0.567	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		G	53240584	A	G	53240584	2	3	22	1	0	0	0	0	0	0	0	1	8491	146	6	2		2	KRT78	12	53240584	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	559	53240584	80611311	6805	11913										
KRT78	196374	hgsc.bcm.edu	37	chr12	53242389	53242389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatctcctgggtctcctgcGtccgcaccacctggaactgg	11	15	2	1	rs116117459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53242389G>A	ENST00000304620.4	-	1	389	c.326C>T	c.(325-327)aCg>aTg	p.T109M	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	109	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTCTCCTGCGTCCGCACCAC	0.567													G|||	67	0.0133786	0.0507	0.0	5008	,	,		16189	0.0		0.0	False		,,,				2504	0.0				p.T109M		Atlas-SNP	.											.	KRT78	41	.	0			c.C326T						PASS	.	G	MET/THR	254,4152	145.7+/-180.5	5,244,1954	106	88	94		326	4.2	1	12	dbSNP_132	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT78	NM_173352.2	81	5,245,6253	AA,AG,GG		0.0116,5.7649,1.9606	probably-damaging	109/521	53242389	255,12751	2203	4300	6503	SO:0001583	missense	196374	exon1			TCCTGCGTCCGCA	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.326C>T	12.37:g.53242389G>A	ENSP00000306261:p.Thr109Met	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	187	89	0.475936	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	31	0.014194139194139194	31	0.06300813008130081	0	0.0	0	0.0	0	0.0	G	20.4	3.978126	0.74360	0.057649	1.16E-4	ENSG00000170423	ENST00000304620	T	0.77877	-1.13	5.18	4.22	0.49857	.	.	.	.	.	T	0.56485	0.1988	M	0.90369	3.11	0.25830	N	0.984172	D	0.89917	1.0	D	0.65874	0.939	T	0.67364	-0.5689	9	0.72032	D	0.01	.	13.5578	0.61770	0.0:0.0:0.8437:0.1563	.	109	Q8N1N4	K2C78_HUMAN	M	109	ENSP00000306261:T109M	ENSP00000306261:T109M	T	-	2	0	KRT78	51528656	0.080000	0.21391	0.977000	0.42913	0.994000	0.84299	2.068000	0.41471	2.575000	0.86900	0.491000	0.48974	ACG	G|0.983;A|0.017	0.017	strong		0.567	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		A	53242389	G	A	53242389	3	1	22	1	0	0	0	0	1	0	0	0	8491	1145	40	1	1272	1	KRT78	12	53242389	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1805	53242389	80609506	6806	11914										
KRT8	3856	hgsc.bcm.edu	37	chr12	53294381	53294381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaacatacctcttcataTagctgcctgaggaagttgat	9	9	2	2	rs8608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53294381T>C	ENST00000552551.1	-	5	1113	c.681A>G	c.(679-681)ctA>ctG	p.L227L	KRT8_ENST00000546897.1_Silent_p.L227L|KRT8_ENST00000293308.6_Silent_p.L227L|KRT8_ENST00000552150.1_Silent_p.L255L			P05787	K2C8_HUMAN	keratin 8	227	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CCTCTTCATATAGCTGCCTGA	0.582													C|||	2842	0.567492	0.3986	0.6182	5008	,	,		18626	0.6042		0.5318	False		,,,				2504	0.7587				p.L255L		Atlas-SNP	.											.	KRT8	41	.	0			c.A765G						PASS	.	C		1920,2486	626.3+/-394.7	423,1074,706	112	110	111	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	681	1.5	1	12	dbSNP_52	111	4399,4201	569.6+/-389.2	1144,2111,1045	no	coding-synonymous	KRT8	NM_002273.3		1567,3185,1751	CC,CT,TT		48.8488,43.5769,48.5853		227/484	53294381	6319,6687	2203	4300	6503	SO:0001819	synonymous_variant	3856	exon5			TTCATATAGCTGC	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.681A>G	12.37:g.53294381T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	72	33	0.458333	NM_001256282	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	CCDS8841.1																																																																																			T|0.483;C|0.517	0.517	strong		0.582	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		C	53294381	T	C	53294381	2	2	22	1	0	0	0	0	0	0	0	1	8493	1393	49	2		2	KRT8	12	53294381	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51992	53294381	80557514	6807	11915										
SPRYD3	84926	hgsc.bcm.edu	37	chr12	53467230	53467230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggaacagtccatctgggGacatgggcatgatggtagag	16	7	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53467230G>T	ENST00000301463.4	-	6	619	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	SPRYD3_ENST00000547837.1_Missense_Mutation_p.S215Y	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	178	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCCATCTGGGGACATGGGCAT	0.607																																					p.S178Y		Atlas-SNP	.											.	SPRYD3	29	.	0			c.C533A						PASS	.						57	43	47					12																	53467230		2203	4292	6495	SO:0001583	missense	84926	exon6			TCTGGGGACATGG	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.533C>A	12.37:g.53467230G>T	ENSP00000301463:p.Ser178Tyr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_032840	B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830680	0.71258	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.60040	0.22;0.22	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.060021	0.64402	D	0.000002	T	0.60143	0.2246	L	0.42245	1.32	0.53005	D	0.999964	D	0.56968	0.978	P	0.50708	0.648	T	0.59484	-0.7446	10	0.45353	T	0.12	-19.5437	16.5838	0.84722	0.0:0.0:1.0:0.0	.	178	Q8NCJ5	SPRY3_HUMAN	Y	178;215	ENSP00000301463:S178Y;ENSP00000449452:S215Y	ENSP00000301463:S178Y	S	-	2	0	SPRYD3	51753497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.182000	0.94881	2.861000	0.98227	0.655000	0.94253	TCC	.	.	none		0.607	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		T	53467230	G	T	53467230	3	4	22	1	0	0	0	0	1	0	0	0	15108	1174	41	4	819	4	SPRYD3	12	53467230	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	172849	53467230	80384665	6808	11916										
MFSD5	84975	hgsc.bcm.edu	37	chr12	53647373	53647373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaccgccgcgtgctgctgTtgggcaccatacaagctcta	12	14	1	0	rs10876422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53647373T>C	ENST00000329548.4	+	2	945	c.754T>C	c.(754-756)Ttg>Ctg	p.L252L	MFSD5_ENST00000534842.1_Silent_p.L359L	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	252					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CGTGCTGCTGTTGGGCACCAT	0.587													T|||	2320	0.463259	0.2625	0.4135	5008	,	,		21472	0.5972		0.4632	False		,,,				2504	0.6319				p.L359L		Atlas-SNP	.											.	MFSD5	40	.	0			c.T1075C						PASS	.	T	,	1332,3074	444.9+/-347.5	198,936,1069	103	101	101		1075,754	2	1	12	dbSNP_120	101	4039,4561	556.5+/-386.9	956,2127,1217	no	coding-synonymous,coding-synonymous	MFSD5	NM_001170790.1,NM_032889.4	,	1154,3063,2286	CC,CT,TT		46.9651,30.2315,41.2963	,	359/558,252/451	53647373	5371,7635	2203	4300	6503	SO:0001819	synonymous_variant	84975	exon2			CTGCTGTTGGGCA	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.754T>C	12.37:g.53647373T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	70	32	0.457143	NM_001170790	G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	CCDS8851.1																																																																																			T|0.569;C|0.431	0.431	strong		0.587	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		C	53647373	T	C	53647373	2	2	22	1	0	0	0	0	0	0	0	1	9534	1722	60	2		2	MFSD5	12	53647373	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	180143	53647373	80204522	6809	11917										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53662624	53662624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgaagagttgctgcccgCcttgaaggtgggggtgctgc	18	9	0	3	rs6580942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53662624C>A	ENST00000257934.4	+	2	165	c.74C>A	c.(73-75)gCc>gAc	p.A25D	ESPL1_ENST00000552462.1_Missense_Mutation_p.A25D	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	25				A -> D (in Ref. 1; AAR18247). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTGCTGCCCGCCTTGAAGGTG	0.527													A|||	4449	0.888379	0.9841	0.7954	5008	,	,		17314	0.999		0.673	False		,,,				2504	0.9325				p.A25D	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.C74A						PASS	.	A	ASP/ALA	4135,271	151.0+/-185.0	1946,243,14	35	34	34	http://omim.org/entry/606257	74	4.8	0.1	12	dbSNP_116	34	5835,2765	433.7+/-357.5	1997,1841,462	yes	missense	ESPL1	NM_012291.4	126	3943,2084,476	AA,AC,CC		32.1512,6.1507,23.3431	benign	25/2121	53662624	9970,3036	2203	4300	6503	SO:0001583	missense	9700	exon2			TGCCCGCCTTGAA	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.74C>A	12.37:g.53662624C>A	ENSP00000257934:p.Ala25Asp	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	1822	0.8342490842490843	475	0.9654471544715447	281	0.7762430939226519	572	1.0	494	0.6517150395778364	A	1.127	-0.653471	0.03480	0.938493	0.678488	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.10668	2.85;2.85	5.95	4.79	0.61399	.	0.227922	0.36519	N	0.002552	T	0.00012	0.0000	N	0.00116	-2.08	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	9	0.02654	T	1	.	11.3037	0.49323	0.7081:0.2919:0.0:0.0	rs6580942;rs17750752;rs52806931;rs60259413;rs6580942	25	Q14674	ESPL1_HUMAN	D	25	ENSP00000257934:A25D;ENSP00000449831:A25D	ENSP00000257934:A25D	A	+	2	0	ESPL1	51948891	0.995000	0.38212	0.137000	0.22149	0.354000	0.29330	3.448000	0.52943	0.492000	0.27815	-0.256000	0.11100	GCC	C|0.192;A|0.808	0.808	strong		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53662624	C	A	53662624	3	1	22	1	0	0	0	0	1	0	0	0	5253	739	26	4	76	4	ESPL1	12	53662624	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15251	53662624	80189271	6810	11918										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53670545	53670545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgacctcctggagctgagCcccgaggagacaccagccgg	14	14	0	3	rs1318648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53670545C>A	ENST00000257934.4	+	8	1933	c.1842C>A	c.(1840-1842)agC>agA	p.S614R	ESPL1_ENST00000552462.1_Missense_Mutation_p.S614R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	614			S -> R (in dbSNP:rs1318648).		apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGAGCTGAGCCCCGAGGAGA	0.637													C|||	3171	0.633187	0.4024	0.5994	5008	,	,		19167	0.8194		0.6372	False		,,,				2504	0.773				p.S614R	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.C1842A						PASS	.	C	ARG/SER	1887,2519		394,1099,710	50	54	53		1842	1.2	1	12	dbSNP_88	53	5491,3105		1770,1951,577	yes	missense	ESPL1	NM_012291.4	110	2164,3050,1287	AA,AC,CC		36.1215,42.828,43.2549	probably-damaging	614/2121	53670545	7378,5624	2203	4298	6501	SO:0001583	missense	9700	exon8			GCTGAGCCCCGAG	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1842C>A	12.37:g.53670545C>A	ENSP00000257934:p.Ser614Arg	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	61	27	0.442623	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	1355	0.6204212454212454	203	0.41260162601626016	221	0.6104972375690608	462	0.8076923076923077	469	0.6187335092348285	C	16.80	3.223939	0.58668	0.42828	0.638785	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14144	2.53;2.53	5.11	1.25	0.21368	.	0.144838	0.64402	D	0.000007	T	0.00012	0.0000	M	0.68317	2.08	0.38397	P	0.054444999999999966	D	0.71674	0.998	P	0.61940	0.896	T	0.10567	-1.0624	9	0.46703	T	0.11	.	8.7053	0.34351	0.0:0.6008:0.0:0.3992	rs1318648;rs3817539;rs52811463;rs59896279;rs1318648	614	Q14674	ESPL1_HUMAN	R	614;289;614	ENSP00000257934:S614R;ENSP00000449831:S614R	ENSP00000257934:S614R	S	+	3	2	ESPL1	51956812	0.553000	0.26513	0.996000	0.52242	0.994000	0.84299	-0.161000	0.10026	0.341000	0.23771	0.650000	0.86243	AGC	C|0.400;N|0.000	.	strong		0.637	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53670545	C	A	53670545	3	1	22	1	0	0	0	0	1	0	0	0	5253	738	26	4	1868	4	ESPL1	12	53670545	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7921	53670545	80181350	6811	11919										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53675381	53675381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgacctgtgatctgcttCgaagtcaactctactggact	8	13	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53675381C>T	ENST00000257934.4	+	13	2681	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R864*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	864					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGATCTGCTTCGAAGTCAACT	0.453																																					p.R864X	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											ESPL1,colon,carcinoma,-1,1	ESPL1	158	1	0			c.C2590T						scavenged	.						172	150	157					12																	53675381		2203	4300	6503	SO:0001587	stop_gained	9700	exon13			CTGCTTCGAAGTC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2590C>T	12.37:g.53675381C>T	ENSP00000257934:p.Arg864*	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	118	2	0.0169492	NM_012291		Nonsense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003819	0.98605	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.1	3.2	0.36748	.	1.005060	0.07997	N	0.988111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3292	0.32175	0.1963:0.6443:0.1594:0.0	.	.	.	.	X	864;539;864	.	ENSP00000257934:R864X	R	+	1	2	ESPL1	51961648	0.007000	0.16637	0.001000	0.08648	0.968000	0.65278	0.665000	0.25083	0.763000	0.33175	0.561000	0.74099	CGA	.	.	none		0.453	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53675381	C	T	53675381	4	4	22	1	0	0	0	0	0	1	0	0	5253	876	31	1	2636	1	ESPL1	12	53675381	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4836	53675381	80176514	6812	11920										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53680135	53680135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaagctctccaagcttcCctgaatcataaaacaccccc	3	18	2	1	rs61741367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53680135C>T	ENST00000257934.4	+	18	3706	c.3615C>T	c.(3613-3615)tcC>tcT	p.S1205S	ESPL1_ENST00000552462.1_Silent_p.S1205S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1205					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAAGCTTCCCTGAATCATA	0.582													C|||	180	0.0359425	0.1316	0.0086	5008	,	,		17444	0.0		0.0	False		,,,				2504	0.0				p.S1205S	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.C3615T						PASS	.	C		503,3903	233.3+/-246.5	36,431,1736	79	87	84		3615	0.4	0.3	12	dbSNP_129	84	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	ESPL1	NM_012291.4		36,438,6029	TT,TC,CC		0.0814,11.4163,3.9213		1205/2121	53680135	510,12496	2203	4300	6503	SO:0001819	synonymous_variant	9700	exon18			AGCTTCCCTGAAT	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3615C>T	12.37:g.53680135C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	73	32	0.438356	NM_012291		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																			C|0.957;T|0.043	0.043	strong		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53680135	C	T	53680135	2	4	22	1	0	0	0	0	0	0	0	1	5253	610	22	2		2	ESPL1	12	53680135	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4754	53680135	80171760	6813	11921										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53682326	53682326	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgctctctccccaggtggGaagactccagctccgggccc	11	18	1	1	rs1110720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53682326G>A	ENST00000257934.4	+	20	4642	c.4551G>A	c.(4549-4551)ggG>ggA	p.G1517G	ESPL1_ENST00000552462.1_Silent_p.G1517G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1517					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCCAGGTGGGAAGACTCCAG	0.567											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3232	0.645367	0.4327	0.6326	5008	,	,		17084	0.8204		0.6382	False		,,,				2504	0.7689				p.G1517G	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.G4551A						PASS	.	G		1951,2455		420,1111,672	27	26	26		4551	3	0.8	12	dbSNP_86	26	5464,3134		1747,1970,582	no	coding-synonymous	ESPL1	NM_012291.4		2167,3081,1254	AA,AG,GG		36.4503,44.2805,42.9791		1517/2121	53682326	7415,5589	2203	4299	6502	SO:0001819	synonymous_variant	9700	exon20			AGGTGGGAAGACT	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4551G>A	12.37:g.53682326G>A		Somatic	56	0	0	994	WXS	Illumina HiSeq	Phase_I	63	29	0.460317	NM_012291		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																			G|0.402;A|0.598	0.598	strong		0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53682326	G	A	53682326	2	1	22	1	0	0	0	0	0	0	0	1	5253	1161	41	2		2	ESPL1	12	53682326	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2191	53682326	80169569	6814	11922										
SP1	6667	hgsc.bcm.edu	37	chr12	53777171	53777171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcagaacccacaagcccaAacaatcaccttagccccaat	4	16	2	1	rs3741651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53777171A>G	ENST00000327443.4	+	3	1538	c.1440A>G	c.(1438-1440)caA>caG	p.Q480Q	SP1_ENST00000426431.2_Silent_p.Q473Q	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	480	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CACAAGCCCAAACAATCACCT	0.557													G|||	941	0.187899	0.2216	0.2147	5008	,	,		21711	0.1796		0.162	False		,,,				2504	0.1585				p.Q480Q		Atlas-SNP	.											.	SP1	57	.	0			c.A1440G						PASS	.	G	,	884,3522	742.6+/-411.4	95,694,1414	169	162	164		1419,1440	4.7	1	12	dbSNP_107	164	1506,7094	748.0+/-407.3	126,1254,2920	no	coding-synonymous,coding-synonymous	SP1	NM_003109.1,NM_138473.2	,	221,1948,4334	GG,GA,AA		17.5116,20.0635,18.3761	,	473/779,480/786	53777171	2390,10616	2203	4300	6503	SO:0001819	synonymous_variant	6667	exon3			AGCCCAAACAATC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1440A>G	12.37:g.53777171A>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	159	72	0.45283	NM_138473	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	CCDS8857.1																																																																																			A|0.814;G|0.186	0.186	strong		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			G	53777171	A	G	53777171	2	3	22	1	0	0	0	0	0	0	0	1	14959	11	1	2		2	SP1	12	53777171	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94845	53777171	80074724	6815	11923										
AMHR2	269	hgsc.bcm.edu	37	chr12	53823307	53823307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcattcgggaagatggatcGtgtgccattggagacctggg	15	8	1	2	rs784890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:53823307G>A	ENST00000257863.4	+	8	1118	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	AMHR2_ENST00000550311.1_Silent_p.S346S|AMHR2_ENST00000379791.3_Silent_p.S346S	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AAGATGGATCGTGTGCCATTG	0.572													G|||	760	0.151757	0.5514	0.0389	5008	,	,		16169	0.0		0.004	False		,,,				2504	0.0				p.S346S		Atlas-SNP	.											.	AMHR2	61	.	0			c.G1038A						PASS	.	G	,,	2068,2338	570.7+/-382.9	514,1040,649	109	98	102		1038,1038,1038	-10	0.9	12	dbSNP_86	102	27,8573	16.6+/-54.9	0,27,4273	no	coding-synonymous,coding-synonymous,coding-synonymous	AMHR2	NM_001164690.1,NM_001164691.1,NM_020547.2	,,	514,1067,4922	AA,AG,GG		0.314,46.936,16.108	,,	346/479,346/479,346/574	53823307	2095,10911	2203	4300	6503	SO:0001819	synonymous_variant	269	exon8			TGGATCGTGTGCC	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1038G>A	12.37:g.53823307G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	142	142	1	NM_020547	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	CCDS8858.1																																																																																			G|0.856;A|0.144	0.144	strong		0.572	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		A	53823307	G	A	53823307	2	1	22	1	0	0	0	0	0	0	0	1	573	1132	40	1		1	AMHR2	12	53823307	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46136	53823307	80028588	6816	11924										
HOXC10	3226	hgsc.bcm.edu	37	chr12	54379610	54379610	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgccgaacatctggaatcGcctcagctggggggcaaagt	14	12	2	0	rs145093077		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:54379610G>C	ENST00000303460.4	+	1	641	c.567G>C	c.(565-567)tcG>tcC	p.S189S	HOXC-AS3_ENST00000513165.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	189					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATCTGGAATCGCCTCAGCTGG	0.647																																					p.S189S		Atlas-SNP	.											.	HOXC10	42	.	0			c.G567C						PASS	.						32	36	35					12																	54379610		2203	4299	6502	SO:0001819	synonymous_variant	3226	exon1			GGAATCGCCTCAG		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.567G>C	12.37:g.54379610G>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	106	49	0.462264	NM_017409	O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																			G|1.000;A|0.000	.	alt		0.647	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			C	54379610	G	C	54379610	2	2	22	1	0	0	0	0	0	0	0	1	7309	1074	38	4		4	HOXC10	12	54379610	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	556303	54379610	79472285	6817	11925										
ITGA5	3678	hgsc.bcm.edu	37	chr12	54795410	54795410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcctccacggagagccgAaaggaaaccacgtcgctttg	12	12	0	2	rs73322228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:54795410A>G	ENST00000293379.4	-	23	2607	c.2346T>C	c.(2344-2346)ttT>ttC	p.F782F	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	782					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGAGAGCCGAAAGGAAACCA	0.582													G|||	250	0.0499201	0.1074	0.0086	5008	,	,		22245	0.0069		0.004	False		,,,				2504	0.093				p.F782F		Atlas-SNP	.											.	ITGA5	99	.	0			c.T2346C						PASS	.	G		499,3907	779.6+/-414.4	30,439,1734	164	139	148		2346	4.9	1	12	dbSNP_130	148	82,8518	815.5+/-407.0	0,82,4218	no	coding-synonymous	ITGA5	NM_002205.2		30,521,5952	GG,GA,AA		0.9535,11.3255,4.4672		782/1050	54795410	581,12425	2203	4300	6503	SO:0001819	synonymous_variant	3678	exon23			GAGCCGAAAGGAA		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2346T>C	12.37:g.54795410A>G		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	171	72	0.421053	NM_002205	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																			A|0.960;G|0.040	0.040	strong		0.582	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			G	54795410	A	G	54795410	2	3	22	1	0	0	0	0	0	0	0	1	7879	243	9	2		2	ITGA5	12	54795410	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	415800	54795410	79056485	6818	11926										
OR9K2	441639	hgsc.bcm.edu	37	chr12	55523587	55523587	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaagagttcatttgtataTtttgccctgtgcctctcaac					rs398102299|rs58036029|rs200050297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55523587delT	ENST00000305377.5	+	1	123	c.35delT	c.(34-36)attfs	p.I12fs		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	12						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CATTTGTATATTTTGCCCTGT	0.363													|||unknown(ALL_OTHER_Ns)	1523	0.304113	0.4085	0.2421	5008	,	,		18883	0.1141		0.334	False		,,,				2504	0.3722				p.I12fs		Pindel,Atlas-Indel	.											.	OR9K2	63	.	0			c.34delA						PASS	.			1650,2614		298,1054,780	93	101	98			2.5	0.8	12	dbSNP_132	145	2679,5575		443,1793,1891	no	frameshift	OR9K2	NM_001005243.1		741,2847,2671	A1A1,A1R,RR		32.457,38.6961,34.5822			55523587	4329,8189	2195	4296	6491	SO:0001589	frameshift_variant	441639	exon1			.	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.35delT	12.37:g.55523587delT	ENSP00000307598:p.Ile12fs	Somatic	131	.	.		WXS	Illumina HiSeq	Phase_I	104	40	0.385	NM_001005243	B9EH19|Q6IFD6	Frame_Shift_Del	DEL	ENST00000305377.5	37	CCDS31814.1																																																																																			T|0.711;-|0.289	0.289	strong		0.363	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			-	55523587	T	-	55523587	7	5	22	1	0	1	0	1	0	0	0	0	11254	1493	52	0	37	0	OR9K2	12	55523587	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	728177	55523587	78328308	6819	11927										
OR9K2	441639	hgsc.bcm.edu	37	chr12	55523685	55523685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgcaggcttcagggtaCgcccagagctccacattctc	9	14	3	1	rs12303066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55523685C>T	ENST00000305377.5	+	1	221	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	45			R -> C (in dbSNP:rs12303066).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R45S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CTTCAGGGTACGCCCAGAGCT	0.453													-|||	1523	0.304113	0.4085	0.2421	5008	,	,		17414	0.1141		0.334	False		,,,				2504	0.3722				p.R45C		Atlas-SNP	.											OR9K2,NS,carcinoma,0,2	OR9K2	63	2	1	Substitution - Missense(1)	prostate(1)	c.C133T						PASS	.	C	CYS/ARG	1703,2703	513.6+/-368.4	308,1087,808	177	166	170		133	-3.9	0	12	dbSNP_120	170	2777,5823	441.0+/-359.7	456,1865,1979	yes	missense	OR9K2	NM_001005243.1	180	764,2952,2787	TT,TC,CC		32.2907,38.6518,34.4456	benign	45/336	55523685	4480,8526	2203	4300	6503	SO:0001583	missense	441639	exon1			AGGGTACGCCCAG	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.133C>T	12.37:g.55523685C>T	ENSP00000307598:p.Arg45Cys	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	205	107	0.521951	NM_001005243	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	624	0.2857142857142857	200	0.4065040650406504	102	0.281767955801105	73	0.12762237762237763	249	0.32849604221635886	C	8.501	0.864300	0.17250	0.386518	0.322907	ENSG00000170605	ENST00000305377	T	0.01084	5.36	4.98	-3.9	0.04181	.	1.019550	0.07834	N	0.961843	T	0.00012	0.0000	L	0.38692	1.165	0.80722	P	0.0	B	0.15930	0.015	B	0.13407	0.009	T	0.36915	-0.9728	9	0.56958	D	0.05	6.1352	2.3085	0.04180	0.3837:0.1609:0.3173:0.1381	rs12303066;rs52808341;rs61113706;rs12303066	45	Q8NGE7	OR9K2_HUMAN	C	45	ENSP00000307598:R45C	ENSP00000307598:R45C	R	+	1	0	OR9K2	53809952	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-1.903000	0.01594	-0.457000	0.07033	-0.766000	0.03442	CGC	C|0.679;T|0.321	0.321	strong		0.453	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			T	55523685	C	T	55523685	3	4	22	1	0	0	0	0	1	0	0	0	11254	536	19	1	135	1	OR9K2	12	55523685	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	98	55523685	78328210	6820	11928										
OR9K2	441639	hgsc.bcm.edu	37	chr12	55523860	55523860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctattcatctgttattgAacccaaggctatgatcaact	5	9	4	2	rs7305779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55523860A>C	ENST00000305377.5	+	1	396	c.308A>C	c.(307-309)gAa>gCa	p.E103A		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	103			E -> A (in dbSNP:rs7305779).			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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TCTGTTATTGAACCCAAGGCT	0.423													C|||	1523	0.304113	0.4085	0.2421	5008	,	,		21118	0.1141		0.334	False		,,,				2504	0.3722				p.E103A		Atlas-SNP	.											.	OR9K2	63	.	0			c.A308C						PASS	.	C	ALA/GLU	1703,2703	652.6+/-399.4	308,1087,808	150	150	150		308	5	1	12	dbSNP_116	150	2777,5823	678.6+/-403.5	456,1865,1979	yes	missense	OR9K2	NM_001005243.1	107	764,2952,2787	CC,CA,AA		32.2907,38.6518,34.4456	benign	103/336	55523860	4480,8526	2203	4300	6503	SO:0001583	missense	441639	exon1			TTATTGAACCCAA	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.308A>C	12.37:g.55523860A>C	ENSP00000307598:p.Glu103Ala	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	83	44	0.53012	NM_001005243	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	624	0.2857142857142857	200	0.4065040650406504	102	0.281767955801105	73	0.12762237762237763	249	0.32849604221635886	C	0.294	-0.977862	0.02197	0.386518	0.322907	ENSG00000170605	ENST00000305377	T	0.00892	5.57	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	N	0.000123	T	0.00012	0.0000	N	0.00135	-2.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.17832	T	0.49	-6.9223	6.3141	0.21180	0.1599:0.695:0.0:0.1451	rs7305779;rs52807355;rs60412666;rs7305779	103	Q8NGE7	OR9K2_HUMAN	A	103	ENSP00000307598:E103A	ENSP00000307598:E103A	E	+	2	0	OR9K2	53810127	0.000000	0.05858	0.995000	0.50966	0.896000	0.52359	0.353000	0.20130	1.482000	0.48325	-0.127000	0.14921	GAA	A|0.677;C|0.323	0.323	strong		0.423	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			C	55523860	A	C	55523860	3	2	22	1	0	0	0	0	1	0	0	0	11254	246	9	5	310	5	OR9K2	12	55523860	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	175	55523860	78328035	6821	11929										
OR9K2	441639	hgsc.bcm.edu	37	chr12	55524172	55524172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacttttactgtgattctcGcccacttcagagactgtctt	6	13	3	2	rs7306491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55524172G>A	ENST00000305377.5	+	1	708	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	207			R -> H (in dbSNP:rs7306491).			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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGATTCTCGCCCACTTCAG	0.358													G|||	1521	0.303714	0.4062	0.2435	5008	,	,		21809	0.1141		0.334	False		,,,				2504	0.3722				p.R207H		Atlas-SNP	.											.	OR9K2	63	.	0			c.G620A						PASS	.	G	HIS/ARG	1696,2710	512.4+/-368.1	304,1088,811	133	124	127		620	4.1	0.1	12	dbSNP_116	127	2777,5823	440.7+/-359.6	456,1865,1979	yes	missense	OR9K2	NM_001005243.1	29	760,2953,2790	AA,AG,GG		32.2907,38.493,34.3918	benign	207/336	55524172	4473,8533	2203	4300	6503	SO:0001583	missense	441639	exon1			ATTCTCGCCCACT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.620G>A	12.37:g.55524172G>A	ENSP00000307598:p.Arg207His	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	156	85	0.544872	NM_001005243	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	622	0.2847985347985348	198	0.4024390243902439	102	0.281767955801105	73	0.12762237762237763	249	0.32849604221635886	G	7.087	0.571398	0.13623	0.38493	0.322907	ENSG00000170605	ENST00000305377	T	0.00123	8.7	4.98	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.140643	0.34133	N	0.004231	T	0.00012	0.0000	N	0.02345	-0.59	0.58432	P	4.000000000004E-6	B	0.14805	0.011	B	0.18263	0.021	T	0.03566	-1.1024	9	0.66056	D	0.02	-9.1617	8.3649	0.32380	0.0866:0.2652:0.6482:0.0	rs7306491;rs52802498;rs59789791;rs7306491	207	Q8NGE7	OR9K2_HUMAN	H	207	ENSP00000307598:R207H	ENSP00000307598:R207H	R	+	2	0	OR9K2	53810439	0.000000	0.05858	0.085000	0.20634	0.302000	0.27658	-0.020000	0.12525	1.466000	0.48025	0.650000	0.86243	CGC	G|0.681;A|0.319	0.319	strong		0.358	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			A	55524172	G	A	55524172	3	1	22	1	0	0	0	0	1	0	0	0	11254	1087	38	1	622	1	OR9K2	12	55524172	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	312	55524172	78327723	6822	11930										
OR9K2	441639	hgsc.bcm.edu	37	chr12	55524314	55524314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacagttctaaagatacaTtctactgagggacataagaa	7	8	2	3	rs7137261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55524314T>C	ENST00000305377.5	+	1	850	c.762T>C	c.(760-762)caT>caC	p.H254H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	254						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TAAAGATACATTCTACTGAGG	0.383													C|||	1523	0.304113	0.4085	0.2421	5008	,	,		18723	0.1141		0.334	False		,,,				2504	0.3722				p.H254H		Atlas-SNP	.											.	OR9K2	63	.	0			c.T762C						PASS	.	C		1703,2703	652.8+/-399.5	308,1087,808	130	118	122		762	-1.6	0	12	dbSNP_116	122	2777,5823	678.6+/-403.5	456,1865,1979	no	coding-synonymous	OR9K2	NM_001005243.1		764,2952,2787	CC,CT,TT		32.2907,38.6518,34.4456		254/336	55524314	4480,8526	2203	4300	6503	SO:0001819	synonymous_variant	441639	exon1			GATACATTCTACT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.762T>C	12.37:g.55524314T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	156	87	0.557692	NM_001005243	B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	CCDS31814.1																																																																																			T|0.674;C|0.326	0.326	strong		0.383	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			C	55524314	T	C	55524314	2	2	22	1	0	0	0	0	0	0	0	1	11254	1490	52	2		2	OR9K2	12	55524314	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	142	55524314	78327581	6823	11931										
OR6C74	254783	hgsc.bcm.edu	37	chr12	55641075	55641075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaatagaaatcaactatgAgaaaccatacaacagtagca	5	7	1	2	rs7301705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55641075A>G	ENST00000343870.4	+	1	94	c.4A>G	c.(4-6)Aga>Gga	p.R2G		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	2			R -> G (in dbSNP:rs7301705).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATCAACTATGAGAAACCATAC	0.318													A|||	1105	0.220647	0.1248	0.2291	5008	,	,		16842	0.0794		0.333	False		,,,				2504	0.3742				p.R2G		Atlas-SNP	.											.	OR6C74	52	.	0			c.A4G						PASS	.	A	GLY/ARG	688,3716	271.3+/-270.1	48,592,1562	101	99	100		4	-0.7	0.1	12	dbSNP_116	100	2714,5886	416.3+/-352.1	425,1864,2011	yes	missense	OR6C74	NM_001005490.1	125	473,2456,3573	GG,GA,AA		31.5581,15.6222,26.1612	benign	2/313	55641075	3402,9602	2202	4300	6502	SO:0001583	missense	254783	exon1			ACTATGAGAAACC		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.4A>G	12.37:g.55641075A>G	ENSP00000342836:p.Arg2Gly	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	30	0.47619	NM_001005490		Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	454	0.2078754578754579	66	0.13414634146341464	95	0.26243093922651933	46	0.08041958041958042	247	0.3258575197889182	a	10.26	1.302047	0.23736	0.156222	0.315581	ENSG00000197706	ENST00000343870	T	0.01665	4.7	4.83	-0.667	0.11395	.	0.415391	0.20729	N	0.086750	T	0.00012	0.0000	N	0.16368	0.405	0.53005	P	3.900000000001125E-5	B	0.10296	0.003	B	0.19946	0.027	T	0.46610	-0.9179	9	0.40728	T	0.16	.	5.0269	0.14389	0.495:0.2724:0.2326:0.0	rs7301705;rs52817965;rs61689751;rs7301705	2	A6NCV1	O6C74_HUMAN	G	2	ENSP00000342836:R2G	ENSP00000342836:R2G	R	+	1	2	OR6C74	53927342	0.376000	0.25098	0.080000	0.20451	0.147000	0.21601	-0.260000	0.08708	-0.178000	0.10672	0.450000	0.29827	AGA	A|0.753;G|0.247	0.247	strong		0.318	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			G	55641075	A	G	55641075	3	3	22	1	0	0	0	0	1	0	0	0	11198	296	11	3	6	3	OR6C74	12	55641075	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	116761	55641075	78210820	6824	11932										
OR6C74	254783	hgsc.bcm.edu	37	chr12	55641295	55641295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctcattcacaactgtctAcattcccaaatttcttgtta	3	11	4	0	rs4388990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55641295A>G	ENST00000343870.4	+	1	314	c.224A>G	c.(223-225)tAc>tGc	p.Y75C		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	75			Y -> C (in dbSNP:rs4388990).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACAACTGTCTACATTCCCAAA	0.403													G|||	1181	0.235823	0.149	0.2334	5008	,	,		19409	0.1171		0.333	False		,,,				2504	0.3773				p.Y75C		Atlas-SNP	.											.	OR6C74	52	.	0			c.A224G						PASS	.	G	CYS/TYR	818,3588	324.5+/-298.6	65,688,1450	173	174	174		224	2.9	0	12	dbSNP_111	174	2719,5881	434.2+/-357.7	426,1867,2007	yes	missense	OR6C74	NM_001005490.1	194	491,2555,3457	GG,GA,AA		31.6163,18.5656,27.1951	benign	75/313	55641295	3537,9469	2203	4300	6503	SO:0001583	missense	254783	exon1			CTGTCTACATTCC		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.224A>G	12.37:g.55641295A>G	ENSP00000342836:p.Tyr75Cys	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	204	74	0.362745	NM_001005490		Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	495	0.22664835164835165	76	0.15447154471544716	98	0.27071823204419887	74	0.12937062937062938	247	0.3258575197889182	a	0.003	-2.548705	0.00140	0.185656	0.316163	ENSG00000197706	ENST00000343870	T	0.00882	5.58	4.83	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	N	0.000024	T	0.00012	0.0000	N	0.00507	-1.42	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	9	0.02654	T	1	.	3.4523	0.07503	0.0764:0.2412:0.3214:0.361	rs4388990;rs17382973;rs52809662;rs60288258;rs4388990	75	A6NCV1	O6C74_HUMAN	C	75	ENSP00000342836:Y75C	ENSP00000342836:Y75C	Y	+	2	0	OR6C74	53927562	0.000000	0.05858	0.009000	0.14445	0.351000	0.29236	-0.367000	0.07553	0.300000	0.22699	-0.229000	0.12294	TAC	A|0.750;G|0.250	0.250	strong		0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			G	55641295	A	G	55641295	3	3	22	1	0	0	0	0	1	0	0	0	11198	391	14	2	226	2	OR6C74	12	55641295	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	220	55641295	78210600	6825	11933										
OR6C74	254783	hgsc.bcm.edu	37	chr12	55641328	55641328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgttagtatggcaacagGtgataagaccatttcttaca	8	7	2	2	rs6581025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55641328G>A	ENST00000343870.4	+	1	347	c.257G>A	c.(256-258)gGt>gAt	p.G86D		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	86			G -> D (in dbSNP:rs6581025).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGGCAACAGGTGATAAGACC	0.398													G|||	1140	0.227636	0.1248	0.2291	5008	,	,		20270	0.1141		0.333	False		,,,				2504	0.3742				p.G86D		Atlas-SNP	.											.	OR6C74	52	.	0			c.G257A						PASS	.	G	ASP/GLY	692,3714	288.7+/-280.0	48,596,1559	198	200	199		257	4.5	0.2	12	dbSNP_116	199	2717,5883	433.8+/-357.5	426,1865,2009	yes	missense	OR6C74	NM_001005490.1	94	474,2461,3568	AA,AG,GG		31.593,15.7059,26.211	probably-damaging	86/313	55641328	3409,9597	2203	4300	6503	SO:0001583	missense	254783	exon1			CAACAGGTGATAA		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.257G>A	12.37:g.55641328G>A	ENSP00000342836:p.Gly86Asp	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	189	71	0.375661	NM_001005490		Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	478	0.21886446886446886	66	0.13414634146341464	95	0.26243093922651933	70	0.12237762237762238	247	0.3258575197889182	g	13.46	2.244713	0.39697	0.157059	0.31593	ENSG00000197706	ENST00000343870	T	0.02787	4.16	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00012	0.0000	L	0.47016	1.485	0.80722	P	0.0	P	0.36465	0.554	B	0.38458	0.274	T	0.50783	-0.8787	9	0.87932	D	0	.	9.0034	0.36097	0.2317:0.0:0.7683:0.0	rs6581025;rs17442303;rs6581025	86	A6NCV1	O6C74_HUMAN	D	86	ENSP00000342836:G86D	ENSP00000342836:G86D	G	+	2	0	OR6C74	53927595	0.000000	0.05858	0.204000	0.23530	0.953000	0.61014	0.584000	0.23864	1.371000	0.46172	0.551000	0.68910	GGT	G|0.760;A|0.240	0.240	strong		0.398	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			A	55641328	G	A	55641328	3	1	22	1	0	0	0	0	1	0	0	0	11198	1261	44	2	259	2	OR6C74	12	55641328	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33	55641328	78210567	6826	11934										
OR6C76	390326	hgsc.bcm.edu	37	chr12	55820358	55820358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttatcttccttggctcaacGgagtttttcctcctggcctc	7	13	2	0	rs12322458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55820358G>A	ENST00000328314.3	+	1	321	c.321G>A	c.(319-321)acG>acA	p.T107T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGGCTCAACGGAGTTTTTCC	0.408													g|||	97	0.019369	0.0673	0.0115	5008	,	,		15616	0.0		0.0	False		,,,				2504	0.0				p.T107T		Atlas-SNP	.											.	OR6C76	98	.	0			c.G321A						PASS	.			262,4144	140.0+/-175.5	7,248,1948	116	128	124		321	-1.2	0.7	12	dbSNP_120	124	3,8593	3.0+/-9.4	0,3,4295	no	coding-synonymous	OR6C76	NM_001005183.1		7,251,6243	AA,AG,GG		0.0349,5.9464,2.0381		107/313	55820358	265,12737	2203	4298	6501	SO:0001819	synonymous_variant	390326	exon1			CTCAACGGAGTTT		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.321G>A	12.37:g.55820358G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	152	72	0.473684	NM_001005183		Silent	SNP	ENST00000328314.3	37	CCDS31823.1																																																																																			G|0.978;A|0.022	0.022	strong		0.408	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		A	55820358	G	A	55820358	2	1	22	1	0	0	0	0	0	0	0	1	11200	1103	39	1		1	OR6C76	12	55820358	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	179030	55820358	78031537	6827	11935										
OR6C76	390326	hgsc.bcm.edu	37	chr12	55820927	55820927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaccagcaggtgaaacaagCatttaaggatgttctgagaa	10	6	1	2	rs73327795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55820927C>T	ENST00000328314.3	+	1	890	c.890C>T	c.(889-891)gCa>gTa	p.A297V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGAAACAAGCATTTAAGGAT	0.353													c|||	104	0.0207668	0.0719	0.013	5008	,	,		14924	0.0		0.0	False		,,,				2504	0.0				p.A297V		Atlas-SNP	.											.	OR6C76	98	.	0			c.C890T						PASS	.		VAL/ALA	273,4133		6,261,1936	35	37	37		890	3.4	0.4	12	dbSNP_130	37	2,8590		0,2,4294	yes	missense	OR6C76	NM_001005183.1	64	6,263,6230	TT,TC,CC		0.0233,6.1961,2.1157	benign	297/313	55820927	275,12723	2203	4296	6499	SO:0001583	missense	390326	exon1			AACAAGCATTTAA		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.890C>T	12.37:g.55820927C>T	ENSP00000328402:p.Ala297Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	54	31	0.574074	NM_001005183		Missense_Mutation	SNP	ENST00000328314.3	37	CCDS31823.1	41	0.018772893772893772	38	0.07723577235772358	3	0.008287292817679558	0	0.0	0	0.0	c	11.52	1.664546	0.29604	0.061961	2.33E-4	ENSG00000185821	ENST00000328314	T	0.44881	0.91	4.25	3.36	0.38483	.	0.000000	0.46442	U	0.000298	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	B	0.33940	0.433	B	0.35899	0.213	T	0.04811	-1.0925	10	0.59425	D	0.04	.	10.1138	0.42579	0.0:0.8992:0.0:0.1008	.	297	A6NM76	O6C76_HUMAN	V	297	ENSP00000328402:A297V	ENSP00000328402:A297V	A	+	2	0	OR6C76	54107194	0.109000	0.22037	0.419000	0.26584	0.684000	0.39900	2.983000	0.49345	1.154000	0.42482	-0.205000	0.12727	GCA	C|0.983;T|0.017	0.017	strong		0.353	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		T	55820927	C	T	55820927	3	4	22	1	0	0	0	0	1	0	0	0	11200	710	25	2	892	2	OR6C76	12	55820927	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	569	55820927	78030968	6828	11936										
OR6C68	403284	hgsc.bcm.edu	37	chr12	55887054	55887054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgagcaagttaaacaagCctttcatgactcactcaaaa	6	9	3	2	rs56760228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55887054C>G	ENST00000548615.1	+	1	893	c.893C>G	c.(892-894)gCc>gGc	p.A298G	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.A303G	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	298						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(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						GTTAAACAAGCCTTTCATGAC	0.289													C|||	306	0.0611022	0.2163	0.0288	5008	,	,		17663	0.0		0.0	False		,,,				2504	0.0				p.A298G		Atlas-SNP	.											.	OR6C68	36	.	0			c.C893G						PASS	.	G	GLY/ALA	793,3609		73,647,1481	32	36	35		893	3.2	0.2	12	dbSNP_129	35	9,8583		0,9,4287	yes	missense	OR6C68	NM_001005519.2	60	73,656,5768	GG,GC,CC		0.1047,18.0145,6.1721	benign	298/313	55887054	802,12192	2201	4296	6497	SO:0001583	missense	403284	exon1			AACAAGCCTTTCA		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.893C>G	12.37:g.55887054C>G	ENSP00000448811:p.Ala298Gly	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	62	23	0.370968	NM_001005519		Missense_Mutation	SNP	ENST00000548615.1	37	CCDS31826.2	104	0.047619047619047616	93	0.18902439024390244	11	0.03038674033149171	0	0.0	0	0.0	c	4.988	0.183559	0.09495	0.180145	0.001047	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.45276	0.9;0.9	5.03	3.19	0.36642	.	0.288458	0.24461	N	0.038338	T	0.00073	0.0002	M	0.61703	1.905	0.80722	P	0.0	B	0.30914	0.3	B	0.38296	0.27	T	0.09185	-1.0686	9	0.72032	D	0.01	.	7.1754	0.25742	0.1288:0.6768:0.1243:0.0702	rs56760228	298	A6NDL8	O6C68_HUMAN	G	303;298	ENSP00000368983:A303G;ENSP00000448811:A298G	ENSP00000368983:A303G	A	+	2	0	OR6C68	54173321	0.000000	0.05858	0.226000	0.23910	0.035000	0.12851	0.005000	0.13129	0.628000	0.30357	-3.065000	0.00067	GCC	C|0.953;G|0.047	0.047	strong		0.289	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			G	55887054	C	G	55887054	3	3	22	1	0	0	0	0	1	0	0	0	11196	739	26	4	910	4	OR6C68	12	55887054	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66127	55887054	77964841	6829	11937										
OR6C4	341418	hgsc.bcm.edu	37	chr12	55945258	55945258	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagatttctgaccagcaTgacaacaggaaataaagtta					rs11835716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55945258T>C	ENST00000394256.2	+	1	276	c.248T>C	c.(247-249)aTg>aCg	p.M83T	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	83			M -> T (in dbSNP:rs11835716).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTGACCAGCATGACAACAGGA	0.433													T|||	594	0.11861	0.3623	0.0231	5008	,	,		20670	0.0913		0.002	False		,,,				2504	0.0051				p.M83T		Atlas-SNP	.											.	OR6C4	34	.	0			c.T248C						PASS	.	T	THR/MET	1311,3095	423.2+/-340.0	196,919,1088	88	94	92		248	4.8	1	12	dbSNP_120	92	23,8575	14.6+/-50.1	0,23,4276	yes	missense	OR6C4	NM_001005494.1	81	196,942,5364	CC,CT,TT		0.2675,29.7549,10.2584	benign	83/310	55945258	1334,11670	2203	4299	6502	SO:0001583	missense	341418	exon1			CCAGCATGACAAC	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.248T>C	12.37:g.55945258T>C	ENSP00000377799:p.Met83Thr	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	122	56	0.459016	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	CCDS31827.1	246	0.11263736263736264	177	0.3597560975609756	8	0.022099447513812154	59	0.10314685314685315	2	0.002638522427440633	T	12.52	1.961912	0.34659	0.297549	0.002675	ENSG00000179626	ENST00000394256	T	0.00327	8.09	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.360722	0.23656	N	0.045877	T	0.00012	0.0000	N	0.10733	0.035	0.42975	P	0.005552000000000001	B	0.16166	0.016	B	0.17098	0.017	T	0.25187	-1.0139	9	0.72032	D	0.01	.	10.0791	0.42379	0.0:0.0818:0.0:0.9182	rs11835716;rs11835716	83	Q8NGE1	OR6C4_HUMAN	T	83	ENSP00000377799:M83T	ENSP00000377799:M83T	M	+	2	0	OR6C4	54231525	0.109000	0.22037	0.998000	0.56505	0.993000	0.82548	2.943000	0.49026	2.135000	0.66039	0.529000	0.55759	ATG	T|0.905;C|0.095	0.095	strong		0.433	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			C	55945258	T	C	55945258	3	2	22	1	0	0	0	0	1	0	0	0	11193	1464	51	2	250	2	OR6C4	12	55945258	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58204	55945258	77906637	6830	11938	247	2								
OR6C4	341418	hgsc.bcm.edu	37	chr12	55945265	55945265	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctgaccagcatgacaacAggaaataaagttatcagctt					rs74093226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55945265A>G	ENST00000394256.2	+	1	283	c.255A>G	c.(253-255)acA>acG	p.T85T	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GCATGACAACAGGAAATAAAG	0.413													A|||	289	0.0577077	0.2095	0.0173	5008	,	,		20860	0.0		0.0	False		,,,				2504	0.0				p.T85T		Atlas-SNP	.											.	OR6C4	34	.	0			c.A255G						PASS	.	A		780,3626	300.1+/-286.2	65,650,1488	82	88	86		255	2.3	1	12	dbSNP_130	86	12,8586	7.7+/-29.5	0,12,4287	no	coding-synonymous	OR6C4	NM_001005494.1		65,662,5775	GG,GA,AA		0.1396,17.7031,6.0904		85/310	55945265	792,12212	2203	4299	6502	SO:0001819	synonymous_variant	341418	exon1			GACAACAGGAAAT	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.255A>G	12.37:g.55945265A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	CCDS31827.1																																																																																			A|0.951;G|0.049	0.049	strong		0.413	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			G	55945265	A	G	55945265	2	3	22	1	0	0	0	0	0	0	0	1	11193	175	7	3		3	OR6C4	12	55945265	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7	55945265	77906630	6831	11939	247	2								
OR6C4	341418	hgsc.bcm.edu	37	chr12	55945585	55945588	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctgctcagacacaagccTcttagaactgatggtcatcc					rs59693527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCTT	TCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55945585_55945588delTCTT	ENST00000394256.2	+	1	603_606	c.575_578delTCTT	c.(574-579)ctcttafs	p.LL192fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GACACAAGCCTCTTAGAACTGATG	0.466														289	0.0577077	0.2095	0.0173	5008	,	,		21072	0.0		0.0	False		,,,				2504	0.0				p.192_193del		Pindel,Atlas-Indel	.											.	OR6C4	34	.	0			c.574_577del						PASS	.			740,3524		60,620,1452						-8.3	0		dbSNP_129	152	13,8241		0,13,4114	no	frameshift	OR6C4	NM_001005494.1		60,633,5566	A1A1,A1R,RR		0.1575,17.3546,6.0153				753,11765				SO:0001589	frameshift_variant	341418	exon1			.	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.575_578delTCTT	12.37:g.55945585_55945588delTCTT	ENSP00000377799:p.Leu192fs	Somatic	249	.	.		WXS	Illumina HiSeq	Phase_I	235	72	0.306	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Del	DEL	ENST00000394256.2	37	CCDS31827.1																																																																																			TCTT|0.950;-|0.050	0.050	strong		0.466	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			-	55945588	TCTT	-	55945585	7	5	22	1	0	1	0	1	0	0	0	0	11193	1551	54	0	577	0	OR6C4	12	55945585	Frame_Shift_Del	DEL	TCTT	TCGA-G8-6324-01A-11D-2210-10	320	55945585	77906310	6832	11940										
OR6C4	341418	hgsc.bcm.edu	37	chr12	55945856	55945856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attacttcggttactcccttActgaatcccttcatatatac	3	12	1	1	rs57386660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:55945856A>G	ENST00000394256.2	+	1	874	c.846A>G	c.(844-846)ttA>ttG	p.L282L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|AC009779.1_ENST00000584743.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTACTCCCTTACTGAATCCCT	0.358													.|||	594	0.11861	0.3623	0.0231	5008	,	,		19169	0.0913		0.002	False		,,,				2504	0.0051				p.L282L		Atlas-SNP	.											.	OR6C4	34	.	0			c.A846G						PASS	.	G		1317,3089	695.5+/-405.9	199,919,1085	57	57	57		846	-0.8	0	12	dbSNP_129	57	22,8578	816.5+/-406.9	0,22,4278	no	coding-synonymous	OR6C4	NM_001005494.1		199,941,5363	GG,GA,AA		0.2558,29.8911,10.2952		282/310	55945856	1339,11667	2203	4300	6503	SO:0001819	synonymous_variant	341418	exon1			TCCCTTACTGAAT	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.846A>G	12.37:g.55945856A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	58	32	0.551724	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	CCDS31827.1																																																																																			A|0.902;G|0.098	0.098	strong		0.358	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			G	55945856	A	G	55945856	2	3	22	1	0	0	0	0	0	0	0	1	11193	388	14	2		2	OR6C4	12	55945856	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	271	55945856	77906039	6833	11941										
ITGA7	3679	hgsc.bcm.edu	37	chr12	56089357	56089357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgggtacagaagcgggcgCggaccagctgcagattgctc	15	13	0	2	rs1800974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56089357C>T	ENST00000555728.1	-	15	2112	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	ITGA7_ENST00000394230.2_Missense_Mutation_p.R655H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R645H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R651H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R651H|ITGA7_ENST00000257880.7_Missense_Mutation_p.R695H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R655H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R558H			Q13683	ITA7_HUMAN	integrin, alpha 7	695			R -> H (in dbSNP:rs1800974). {ECO:0000269|PubMed:10403775, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9473524, ECO:0000269|PubMed:9590299, ECO:0000269|Ref.3}.		blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAGCGGGCGCGGACCAGCTG	0.597													C|||	3002	0.599441	0.3094	0.621	5008	,	,		18591	0.9306		0.495	False		,,,				2504	0.7423				p.R655H		Atlas-SNP	.											.	ITGA7	194	.	0			c.G1964A	GRCh37	CM067685	ITGA7	M	rs1800974	PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	1497,2909	479.4+/-358.5	250,997,956	78	74	75		1964,1673,1952	-0.7	0.1	12	dbSNP_89	75	4373,4227	583.1+/-391.5	1143,2087,1070	yes	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	29,29,29	1393,3084,2026	TT,TC,CC		49.1512,33.9764,45.133	benign,benign,benign	655/1142,558/1045,651/1138	56089357	5870,7136	2203	4300	6503	SO:0001583	missense	3679	exon14			CGGGCGCGGACCA		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2084G>A	12.37:g.56089357C>T	ENSP00000452387:p.Arg695His	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	221	109	0.493213	NM_001144996	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		1284	0.5879120879120879	162	0.32926829268292684	209	0.5773480662983426	528	0.9230769230769231	385	0.5079155672823219	C	9.646	1.140294	0.21205	0.339764	0.508488	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.84	-0.706	0.11249	Integrin alpha-2 (1);	0.821367	0.11353	N	0.572722	T	0.00012	0.0000	N	0.16656	0.425	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.29088	-1.0023	9	0.15952	T	0.53	.	9.2195	0.37368	0.0:0.3884:0.0:0.6116	rs1800974;rs17434612;rs17855683;rs61528939;rs1800974	558;695;655;714	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	655;651;645;558;695;655;651;695	ENSP00000452120:R655H;ENSP00000257879:R651H;ENSP00000343009:R645H;ENSP00000393844:R558H;ENSP00000257880:R695H;ENSP00000377777:R655H;ENSP00000377776:R651H;ENSP00000452387:R695H	ENSP00000257879:R651H	R	-	2	0	ITGA7	54375624	0.001000	0.12720	0.079000	0.20413	0.953000	0.61014	0.204000	0.17335	-0.033000	0.13736	0.561000	0.74099	CGC	C|0.489;T|0.511	0.511	strong		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56089357	C	T	56089357	3	4	22	1	0	0	0	0	1	0	0	0	7881	768	27	1	1509	1	ITGA7	12	56089357	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	143501	56089357	77762538	6834	11942										
RDH5	5959	hgsc.bcm.edu	37	chr12	56117700	56117700	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcattttgggatacgagtCtccatcgtggagcctggctt	12	10	2	0	rs13193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56117700C>G	ENST00000257895.5	+	4	752	c.600C>G	c.(598-600)gtC>gtG	p.V200V	RDH5_ENST00000547072.1_Silent_p.V103V|RDH5_ENST00000548082.1_Silent_p.V200V|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	200				V -> E (in Ref. 2; AAB93668). {ECO:0000305}.	phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GGATACGAGTCTCCATCGTGG	0.592													C|||	700	0.139776	0.3616	0.1239	5008	,	,		19146	0.0248		0.0457	False		,,,				2504	0.0665				p.V200V		Atlas-SNP	.											RDH5,NS,carcinoma,0,1	RDH5	25	1	0			c.C600G						PASS	.	C	,	1459,2947	470.5+/-355.8	242,975,986	73	67	69		600,600	5.1	1	12	dbSNP_52	69	260,8340	101.2+/-162.5	6,248,4046	no	coding-synonymous,coding-synonymous	RDH5	NM_001199771.1,NM_002905.3	,	248,1223,5032	GG,GC,CC		3.0233,33.1139,13.217	,	200/319,200/319	56117700	1719,11287	2203	4300	6503	SO:0001819	synonymous_variant	5959	exon4			ACGAGTCTCCATC	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.600C>G	12.37:g.56117700C>G		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_001199771	O00179|Q8TAI2	Silent	SNP	ENST00000257895.5	37	CCDS31829.1																																																																																			C|0.876;G|0.124	0.124	strong		0.592	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		G	56117700	C	G	56117700	2	3	22	1	0	0	0	0	0	0	0	1	13195	900	32	4		4	RDH5	12	56117700	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28343	56117700	77734195	6835	11943										
DGKA	1606	hgsc.bcm.edu	37	chr12	56345408	56345408	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcttctccactcctaggTtatgaaggacagaatctggc	9	11	3	2	rs11834873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56345408T>G	ENST00000331886.5	+	18	1882	c.1428T>G	c.(1426-1428)ggT>ggG	p.G476G	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Splice_Site_p.G476G|DGKA_ENST00000551156.1_Splice_Site_p.G476G	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	476	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CACTCCTAGGTTATGAAGGAC	0.502													G|||	539	0.107628	0.3805	0.0389	5008	,	,		21545	0.006		0.001	False		,,,				2504	0.002				p.G476G		Atlas-SNP	.											.	DGKA	70	.	0			c.T1428G						PASS	.	G	,,,	1383,3023	687.7+/-404.9	232,919,1052	113	106	108		1428,1428,1428,1428	-4.9	0.8	12	dbSNP_120	108	15,8585	818.5+/-406.9	0,15,4285	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DGKA	NM_001345.4,NM_201444.2,NM_201445.1,NM_201554.1	,,,	232,934,5337	GG,GT,TT		0.1744,31.389,10.7489	,,,	476/736,476/736,476/736,476/736	56345408	1398,11608	2203	4300	6503	SO:0001630	splice_region_variant	1606	exon18			CCTAGGTTATGAA	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1427-1T>G	12.37:g.56345408T>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	CCDS8896.1																																																																																			T|0.889;G|0.111	0.111	strong		0.502	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Silent	G	56345408	T	G	56345408	5	3	22	1	0	0	0	0	0	0	1	0	4465	1739	60	5	1494	5	DGKA	12	56345408	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	227708	56345408	77506487	6836	11944										
DGKA	1606	hgsc.bcm.edu	37	chr12	56346891	56346891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatgggccaaatctatacCaagctcaagaatgctggacg	11	9	2	2	rs199663532		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56346891C>T	ENST00000331886.5	+	22	2464	c.2010C>T	c.(2008-2010)acC>acT	p.T670T	DGKA_ENST00000394147.1_Silent_p.T670T|DGKA_ENST00000551156.1_Silent_p.T670T|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	670					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AAATCTATACCAAGCTCAAGA	0.532																																					p.T670T		Atlas-SNP	.											.	DGKA	70	.	0			c.C2010T						PASS	.						112	109	110					12																	56346891		2203	4300	6503	SO:0001819	synonymous_variant	1606	exon22			CTATACCAAGCTC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2010C>T	12.37:g.56346891C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	CCDS8896.1																																																																																			.	.	none		0.532	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			T	56346891	C	T	56346891	2	4	22	1	0	0	0	0	0	0	0	1	4465	581	21	2		2	DGKA	12	56346891	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1483	56346891	77505004	6837	11945										
CDK2	1017	hgsc.bcm.edu	37	chr12	56360876	56360876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaacaagttgacgggagaGgtggtggcgcttaagaaaat	15	4	0	4	rs2069398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56360876G>A	ENST00000266970.4	+	1	324	c.84G>A	c.(82-84)gaG>gaA	p.E28E	RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000550464.1_5'Flank|PMEL_ENST00000449260.2_5'Flank|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|CDK2_ENST00000553376.1_Silent_p.E28E|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000354056.4_Silent_p.E28E|CDK2_ENST00000440311.2_Silent_p.E28E	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			LTGEV -> STGQM (in Ref. 5; BAA32794). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	TGACGGGAGAGGTGGTGGCGC	0.572													A|||	592	0.118211	0.3207	0.0764	5008	,	,		15851	0.001		0.0656	False		,,,				2504	0.0491				p.E28E		Atlas-SNP	.											.	CDK2	27	.	0			c.G84A						PASS	.	A	,	1226,3180	699.7+/-406.5	171,884,1148	133	125	128		84,84	2.3	1	12	dbSNP_96	128	665,7935	785.3+/-407.6	23,619,3658	no	coding-synonymous,coding-synonymous	CDK2	NM_001798.3,NM_052827.2	,	194,1503,4806	AA,AG,GG		7.7326,27.8257,14.5394	,	28/299,28/265	56360876	1891,11115	2203	4300	6503	SO:0001819	synonymous_variant	1017	exon1			GGGAGAGGTGGTG	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.84G>A	12.37:g.56360876G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_052827	A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	CCDS8898.1																																																																																			G|0.871;A|0.129	0.129	strong		0.572	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			A	56360876	G	A	56360876	2	1	22	1	0	0	0	0	0	0	0	1	3136	991	35	2		2	CDK2	12	56360876	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13985	56360876	77491019	6838	11946										
CDK2	1017	hgsc.bcm.edu	37	chr12	56363357	56363357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggctgcatctttgctgaGatggtatggaggcttgccca	14	9	1	1	rs2069406	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56363357G>A	ENST00000266970.4	+	5	825	c.585G>A	c.(583-585)gaG>gaA	p.E195E	RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|CDK2_ENST00000553376.1_Silent_p.E195E|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000354056.4_Intron|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000440311.2_Intron	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	TCTTTGCTGAGATGGTATGGA	0.562													G|||	213	0.0425319	0.1528	0.0159	5008	,	,		17480	0.0		0.0	False		,,,				2504	0.0				p.E195E		Atlas-SNP	.											.	CDK2	27	.	0			c.G585A						PASS	.	G	,	539,3867	244.0+/-253.5	33,473,1697	93	80	84		585,	4.5	1	12	dbSNP_96	84	9,8591	7.7+/-29.5	0,9,4291	no	coding-synonymous,intron	CDK2	NM_001798.3,NM_052827.2	,	33,482,5988	AA,AG,GG		0.1047,12.2333,4.2134	,	195/299,	56363357	548,12458	2203	4300	6503	SO:0001819	synonymous_variant	1017	exon5			TGCTGAGATGGTA	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.585G>A	12.37:g.56363357G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	124	48	0.387097	NM_001798	A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	CCDS8898.1																																																																																			G|0.958;A|0.042	0.042	strong		0.562	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			A	56363357	G	A	56363357	2	1	22	1	0	0	0	0	0	0	0	1	3136	933	33	2		2	CDK2	12	56363357	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2481	56363357	77488538	6839	11947										
RPS26	6231	hgsc.bcm.edu	37	chr12	56437917	56437917	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagggtgctgccccacgTcccccaccaaagcccatgta	8	17	1	0	rs56696262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56437917T>A	ENST00000356464.5	+	4	641	c.327T>A	c.(325-327)cgT>cgA	p.R109R	RPS26_ENST00000552361.1_Silent_p.R109R|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	109				R -> A (in Ref. 1; CAA49345). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGCCCCACGTCCCCCACCAA	0.428													T|||	459	0.0916534	0.3328	0.0259	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0				p.R109R		Atlas-SNP	.											.	RPS26	9	.	0			c.T327A						PASS	.	T		1110,3296	399.0+/-331.0	134,842,1227	194	199	197		327	-3.5	1	12	dbSNP_129	197	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	RPS26	NM_001029.3		134,854,5515	AA,AT,TT		0.1395,25.1929,8.6268		109/116	56437917	1122,11884	2203	4300	6503	SO:0001819	synonymous_variant	6231	exon4			CCCACGTCCCCCA	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.327T>A	12.37:g.56437917T>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	128	59	0.460938	NM_001029	P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Silent	SNP	ENST00000356464.5	37	CCDS31832.1																																																																																			T|0.925;A|0.075	0.075	strong		0.428	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		A	56437917	T	A	56437917	2	1	22	1	0	0	0	0	0	0	0	1	13637	1654	58	5		5	RPS26	12	56437917	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74560	56437917	77413978	6840	11948										
ERBB3	2065	hgsc.bcm.edu	37	chr12	56487201	56487201	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgatccctgaaggaaatTagtgctgggcgtatctatat	10	8	1	1	rs2229046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56487201T>C	ENST00000267101.3	+	12	1787	c.1347T>C	c.(1345-1347)atT>atC	p.I449I	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.I390I|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	449					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGGAAATTAGTGCTGGGC	0.502													T|||	248	0.0495208	0.0749	0.0403	5008	,	,		19177	0.001		0.0726	False		,,,				2504	0.0481				p.I449I		Atlas-SNP	.											.	ERBB3	350	.	0			c.T1347C						PASS	.	T		357,4049	184.0+/-211.4	10,337,1856	101	104	103		1347	-9.1	0.7	12	dbSNP_98	103	600,8000	158.2+/-211.7	27,546,3727	no	coding-synonymous	ERBB3	NM_001982.3		37,883,5583	CC,CT,TT		6.9767,8.1026,7.3581		449/1343	56487201	957,12049	2203	4300	6503	SO:0001819	synonymous_variant	2065	exon12			GGAAATTAGTGCT	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1347T>C	12.37:g.56487201T>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	170	97	0.570588	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																			T|0.932;C|0.068	0.068	strong		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			C	56487201	T	C	56487201	2	2	22	1	0	0	0	0	0	0	0	1	5208	1742	61	2		2	ERBB3	12	56487201	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49284	56487201	77364694	6841	11949										
ERBB3	2065	hgsc.bcm.edu	37	chr12	56494998	56494998	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaatgtgtaggagccggAgcaggagccggagcccacgg	17	10	1	0	rs773123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56494998A>T	ENST00000267101.3	+	27	3795	c.3355A>T	c.(3355-3357)Agc>Tgc	p.S1119C	ERBB3_ENST00000415288.2_Missense_Mutation_p.S1060C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S360C|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.S476C|ERBB3_ENST00000549832.1_Missense_Mutation_p.S239C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1119			S -> C (in dbSNP:rs773123). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TAGGAGCCGGAGCAGGAGCCG	0.617													A|||	333	0.0664936	0.0787	0.0663	5008	,	,		13463	0.002		0.1123	False		,,,				2504	0.0695				p.S1119C		Atlas-SNP	.											.	ERBB3	350	.	0			c.A3355T						PASS	.	A	CYS/SER	384,4022	193.6+/-218.7	15,354,1834	56	53	54		3355	5.9	1	12	dbSNP_86	54	916,7684	202.8+/-246.0	53,810,3437	yes	missense	ERBB3	NM_001982.3	112	68,1164,5271	TT,TA,AA		10.6512,8.7154,9.9954	probably-damaging	1119/1343	56494998	1300,11706	2203	4300	6503	SO:0001583	missense	2065	exon27			AGCCGGAGCAGGA	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3355A>T	12.37:g.56494998A>T	ENSP00000267101:p.Ser1119Cys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	136	0.06227106227106227	24	0.04878048780487805	27	0.07458563535911603	1	0.0017482517482517483	84	0.11081794195250659	A	21.3	4.126790	0.77549	0.087154	0.106512	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79940	-1.18;-1.1;-1.17;-1.32;-1.06	5.87	5.87	0.94306	.	0.132088	0.53938	D	0.000051	T	0.07279	0.0184	N	0.08118	0	0.20403	P	0.9999099903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.65759	-0.6090	9	0.52906	T	0.07	.	14.0962	0.65023	1.0:0.0:0.0:0.0	rs773123;rs58303863;rs773123	1060;239;1119	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	C	1119;476;1060;242;360;239	ENSP00000267101:S1119C;ENSP00000399178:S476C;ENSP00000408340:S1060C;ENSP00000449129:S360C;ENSP00000448729:S239C	ENSP00000267101:S1119C	S	+	1	0	ERBB3	54781265	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	6.234000	0.72326	2.371000	0.80710	0.533000	0.62120	AGC	A|0.908;T|0.092	0.092	strong		0.617	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56494998	A	T	56494998	3	4	22	1	0	0	0	0	1	0	0	0	5208	304	11	5	3592	5	ERBB3	12	56494998	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7797	56494998	77356897	6842	11950										
PA2G4	5036	hgsc.bcm.edu	37	chr12	56500502	56500503	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaggaaatgaagaaaggtINSaaaaaaaaaaaatccctcac					rs71074902|rs34728522|rs398019698		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56500502_56500503insA	ENST00000303305.6	+	2	636		c.e2+2		PA2G4_ENST00000552766.1_Splice_Site|RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Splice_Site	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa						cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGAAGAAAGGTAAAAAAAAAAA	0.396																																					.		Pindel	.											.	PA2G4	24	.	1	Unknown(1)	ovary(1)	c.217+2->A						PASS	.																																			SO:0001630	splice_region_variant	5036	exon2			.	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.217+2->A	12.37:g.56500513_56500513dupA		Somatic	32	.	.		WXS	Illumina HiSeq	Phase_I	35	12	0.343	NM_006191	O43846|Q9UM59	Splice_Site	INS	ENST00000303305.6	37	CCDS8902.1																																																																																			-|0.250;A|0.750	0.750	weak		0.396	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	Intron	A	56500503	-	A	56500502	8	5	22	1	0	1	1	0	0	0	1	0	11361	1652	57	0	225	0	PA2G4	12	56500502	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	5504	56500502	77351393	6843	11951										
ESYT1	23344	hgsc.bcm.edu	37	chr12	56531154	56531154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgatagccagtttgggacTgaggtgagtctatatctgga	13	7	2	3	rs2271192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56531154T>C	ENST00000394048.5	+	17	2199	c.1935T>C	c.(1933-1935)acT>acC	p.T645T	ESYT1_ENST00000267113.4_Silent_p.T655T|ESYT1_ENST00000541590.1_Silent_p.T655T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	645	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGTTTGGGACTGAGGTGAGTC	0.552													C|||	926	0.184904	0.4879	0.1081	5008	,	,		19063	0.0208		0.1153	False		,,,				2504	0.0706				p.T655T		Atlas-SNP	.											.	ESYT1	84	.	0			c.T1965C						PASS	.	C	,	1841,2565	635.5+/-396.4	396,1049,758	99	100	99		1965,1935	-8.7	0.4	12	dbSNP_100	99	940,7660	776.6+/-407.7	57,826,3417	no	coding-synonymous,coding-synonymous	ESYT1	NM_001184796.1,NM_015292.2	,	453,1875,4175	CC,CT,TT		10.9302,41.7839,21.3824	,	655/1115,645/1105	56531154	2781,10225	2203	4300	6503	SO:0001819	synonymous_variant	23344	exon17			TGGGACTGAGGTG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1935T>C	12.37:g.56531154T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	135	134	0.992593	NM_001184796	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																			T|0.802;C|0.198	0.198	strong		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		C	56531154	T	C	56531154	2	2	22	1	0	0	0	0	0	0	0	1	5264	1567	55	3		3	ESYT1	12	56531154	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30652	56531154	77320741	6844	11952										
CS	1431	hgsc.bcm.edu	37	chr12	56676233	56676233	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggttcggctgataccctGtgcatatgctcgggcaaagt	12	10	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56676233G>A	ENST00000351328.3	-	6	749	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	CS_ENST00000548567.1_Nonsense_Mutation_p.Q121*|CS_ENST00000542324.2_Nonsense_Mutation_p.Q174*	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	187				Q -> R (in Ref. 1; AAC25560). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTGATACCCTGTGCATATGCT	0.507																																					p.Q187X		Atlas-SNP	.											CS,NS,adenoma,+1,1	CS	44	1	0			c.C559T						scavenged	.						102	77	86					12																	56676233		2203	4300	6503	SO:0001587	stop_gained	1431	exon6			TACCCTGTGCATA		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.559C>T	12.37:g.56676233G>A	ENSP00000342056:p.Gln187*	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	265	18	0.0679245	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Nonsense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444473	0.83993	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554	.	.	.	4.79	2.95	0.34219	.	0.098661	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4858	14.6063	0.68481	0.0:0.7188:0.2812:0.0	.	.	.	.	X	121;187;174;112;121;121;121;121;151;137	.	ENSP00000342056:Q187X	Q	-	1	0	CS	54962500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.603000	0.61105	0.695000	0.31675	-0.139000	0.14373	CAG	.	.	none		0.507	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		A	56676233	G	A	56676233	4	1	22	1	0	0	0	0	0	1	0	0	3924	1386	48	2	865	2	CS	12	56676233	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145079	56676233	77175662	6845	11953										
APOF	319	hgsc.bcm.edu	37	chr12	56755058	56755058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaagtcatagctcttgattAtggcccacccccagtaggga	9	12	2	1	rs4301822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56755058A>G	ENST00000398189.3	-	2	1009	c.932T>C	c.(931-933)aTa>aCa	p.I311T	APOF_ENST00000541105.1_Missense_Mutation_p.I293T|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	311					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCTCTTGATTATGGCCCACCC	0.433													A|||	860	0.171725	0.618	0.0605	5008	,	,		19267	0.0		0.001	False		,,,				2504	0.0				p.I311T		Atlas-SNP	.											.	APOF	13	.	0			c.T932C						PASS	.	A	THR/ILE	2014,1714		552,910,402	63	62	62		932	-0.8	0	12	dbSNP_111	62	37,8135		0,37,4049	yes	missense	APOF	NM_001638.2	89	552,947,4451	GG,GA,AA		0.4528,45.9764,17.2353	benign	311/327	56755058	2051,9849	1864	4086	5950	SO:0001583	missense	319	exon2			TTGATTATGGCCC	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.932T>C	12.37:g.56755058A>G	ENSP00000381250:p.Ile311Thr	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	147	74	0.503401	NM_001638	Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	CCDS44923.1	313	0.1433150183150183	292	0.5934959349593496	20	0.055248618784530384	0	0.0	1	0.0013192612137203166	A	11.19	1.566097	0.27915	0.540236	0.004528	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.46819	0.86;0.87	4.35	-0.826	0.10805	.	1.635310	0.04195	N	0.329013	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.15719	0.014	B	0.18871	0.023	T	0.47182	-0.9137	9	0.56958	D	0.05	2.3357	3.2021	0.06653	0.4939:0.0:0.3248:0.1813	rs4301822;rs52837142;rs4301822	311	Q13790	APOF_HUMAN	T	311;293	ENSP00000381250:I311T;ENSP00000440997:I293T	ENSP00000381250:I311T	I	-	2	0	APOF	55041325	0.000000	0.05858	0.000000	0.03702	0.300000	0.27592	-0.010000	0.12743	-0.126000	0.11682	-0.256000	0.11100	ATA	A|0.818;G|0.182	0.182	strong		0.433	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			G	56755058	A	G	56755058	3	3	22	1	0	0	0	0	1	0	0	0	803	449	16	2	52	2	APOF	12	56755058	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	78825	56755058	77096837	6846	11954										
APOF	319	hgsc.bcm.edu	37	chr12	56755300	56755300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggcccccctgacatcccAgccatggtcatcagaaggtc	9	15	2	2	rs11575217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56755300A>C	ENST00000398189.3	-	2	767	c.690T>G	c.(688-690)gcT>gcG	p.A230A	APOF_ENST00000541105.1_Silent_p.A212A|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	230					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CTGACATCCCAGCCATGGTCA	0.517													A|||	212	0.0423323	0.1528	0.0144	5008	,	,		20580	0.0		0.0	False		,,,				2504	0.0				p.A230A		Atlas-SNP	.											.	APOF	13	.	0			c.T690G						PASS	.	A		449,3449		26,397,1526	68	70	69		690	-11	0	12	dbSNP_120	69	0,8286		0,0,4143	no	coding-synonymous	APOF	NM_001638.2		26,397,5669	CC,CA,AA		0.0,11.5187,3.6852		230/327	56755300	449,11735	1949	4143	6092	SO:0001819	synonymous_variant	319	exon2			CATCCCAGCCATG	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.690T>G	12.37:g.56755300A>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	126	53	0.420635	NM_001638	Q8TC13	Silent	SNP	ENST00000398189.3	37	CCDS44923.1																																																																																			A|0.945;C|0.055	0.055	strong		0.517	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			C	56755300	A	C	56755300	2	2	22	1	0	0	0	0	0	0	0	1	803	175	7	5		5	APOF	12	56755300	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	242	56755300	77096595	6847	11955										
TIMELESS	8914	hgsc.bcm.edu	37	chr12	56815717	56815717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacactgtcagccagtcccaTctgtaccagatggtggatga	11	11	2	2	rs61733875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56815717T>C	ENST00000553532.1	-	21	2758	c.2608A>G	c.(2608-2610)Atg>Gtg	p.M870V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.M869V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.M367V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCAGTCCCATCTGTACCAGA	0.557													T|||	255	0.0509185	0.1823	0.0187	5008	,	,		21890	0.0		0.001	False		,,,				2504	0.0				p.M870V		Atlas-SNP	.											.	TIMELESS	107	.	0			c.A2608G						PASS	.	T	VAL/MET	704,3702	295.3+/-283.6	47,610,1546	140	127	131		2608	1.3	0.8	12	dbSNP_129	131	4,8596	3.0+/-9.4	0,4,4296	yes	missense	TIMELESS	NM_003920.3	21	47,614,5842	CC,CT,TT		0.0465,15.9782,5.4436	benign	870/1209	56815717	708,12298	2203	4300	6503	SO:0001583	missense	8914	exon21			GTCCCATCTGTAC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2608A>G	12.37:g.56815717T>C	ENSP00000450607:p.Met870Val	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	114	57	0.5	NM_003920		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	111	0.050824175824175824	108	0.21951219512195122	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	T	7.065	0.567067	0.13560	0.159782	4.65E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11604	2.76;2.76;2.76	5.29	1.26	0.21427	Timeless C-terminal (1);	0.478535	0.21599	N	0.071972	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	B	0.17852	0.024	B	0.20955	0.032	T	0.35325	-0.9793	9	0.51188	T	0.08	-2.3118	3.9116	0.09205	0.0713:0.2456:0.3032:0.3798	.	870	Q9UNS1	TIM_HUMAN	V	869;870;367	ENSP00000229201:M869V;ENSP00000450607:M870V;ENSP00000450848:M367V	ENSP00000229201:M870V	M	-	1	0	TIMELESS	55101984	0.560000	0.26570	0.789000	0.31954	0.285000	0.27093	0.692000	0.25482	0.031000	0.15407	-0.973000	0.02599	ATG	T|0.947;C|0.053	0.053	strong		0.557	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		C	56815717	T	C	56815717	3	2	22	1	0	0	0	0	1	0	0	0	15901	1435	50	2	1054	2	TIMELESS	12	56815717	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60417	56815717	77036178	6848	11956										
TIMELESS	8914	hgsc.bcm.edu	37	chr12	56822690	56822690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgcccaggaggcagcttcCttgcggtcagtcagcatcat	12	13	3	0	rs11832580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56822690C>T	ENST00000553532.1	-	11	1431	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.K426K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGCAGCTTCCTTGCGGTCAG	0.532													C|||	256	0.0511182	0.1831	0.0187	5008	,	,		19438	0.0		0.001	False		,,,				2504	0.0				p.K427K		Atlas-SNP	.											.	TIMELESS	107	.	0			c.G1281A						PASS	.	C		702,3704	294.7+/-283.3	45,612,1546	109	95	100		1281	4.4	1	12	dbSNP_120	100	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	TIMELESS	NM_003920.3		45,616,5842	TT,TC,CC		0.0465,15.9328,5.4283		427/1209	56822690	706,12300	2203	4300	6503	SO:0001819	synonymous_variant	8914	exon11			AGCTTCCTTGCGG	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1281G>A	12.37:g.56822690C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	54	0.453782	NM_003920		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																			C|0.949;T|0.051	0.051	strong		0.532	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56822690	C	T	56822690	2	4	22	1	0	0	0	0	0	0	0	1	15901	680	24	2		2	TIMELESS	12	56822690	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6973	56822690	77029205	6849	11957										
MIP	4284	hgsc.bcm.edu	37	chr12	56847384	56847384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgcttaccccaaagagGtgccccagggcaagggagaa	12	12	0	2	rs36032520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56847384G>A	ENST00000257979.4	-	2	544	c.516C>T	c.(514-516)caC>caT	p.H172H	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	172					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CCCCAAAGAGGTGCCCCAGGG	0.562													G|||	9	0.00179712	0.0068	0.0	5008	,	,		20604	0.0		0.0	False		,,,				2504	0.0				p.H172H		Atlas-SNP	.											.	MIP	39	.	0			c.C516T						PASS	.	G		39,4367	43.8+/-77.6	0,39,2164	57	53	54		516	3	1	12	dbSNP_126	54	0,8600		0,0,4300	no	coding-synonymous	MIP	NM_012064.3		0,39,6464	AA,AG,GG		0.0,0.8852,0.2999		172/264	56847384	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	4284	exon2			AAAGAGGTGCCCC		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.516C>T	12.37:g.56847384G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	40	0.47619	NM_012064	Q17R41	Silent	SNP	ENST00000257979.4	37	CCDS8919.1																																																																																			G|0.998;A|0.002	0.002	strong		0.562	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		A	56847384	G	A	56847384	2	1	22	1	0	0	0	0	0	0	0	1	9591	1252	44	2		2	MIP	12	56847384	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24694	56847384	77004511	6850	11958										
BAZ2A	11176	hgsc.bcm.edu	37	chr12	56994170	56994170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacgctgaggtgccagtccCtccctgccccgacctcgcca	9	19	0	1	rs1527140	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:56994170C>T	ENST00000551812.1	-	24	4906	c.4713G>A	c.(4711-4713)gaG>gaA	p.E1571E	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000549884.1_Silent_p.E1569E|BAZ2A_ENST00000179765.5_Silent_p.E1539E|BAZ2A_ENST00000379441.3_Silent_p.E1541E	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1571					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGCCAGTCCCTCCCTGCCCC	0.607													T|||	660	0.131789	0.4357	0.0403	5008	,	,		17929	0.0		0.0129	False		,,,				2504	0.044				p.E1571E		Atlas-SNP	.											.	BAZ2A	263	.	0			c.G4713A						PASS	.	T		1302,2840		216,870,985	53	59	57		4713	1.7	1	12	dbSNP_88	57	137,8255		2,133,4061	no	coding-synonymous	BAZ2A	NM_013449.3		218,1003,5046	TT,TC,CC		1.6325,31.4341,11.4808		1571/1906	56994170	1439,11095	2071	4196	6267	SO:0001819	synonymous_variant	11176	exon24			CAGTCCCTCCCTG	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4713G>A	12.37:g.56994170C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	CCDS44924.1																																																																																			C|0.900;T|0.100	0.100	strong		0.607	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		T	56994170	C	T	56994170	2	4	22	1	0	0	0	0	0	0	0	1	1331	680	24	2		2	BAZ2A	12	56994170	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146786	56994170	76857725	6851	11959										
NACA	4666	hgsc.bcm.edu	37	chr12	57114869	57114869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggaaaagcagaactctTctgaactgagtggggagcca	14	7	2	3	rs17118953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57114869T>C	ENST00000454682.1	-	3	726	c.445A>G	c.(445-447)Aag>Gag	p.K149E	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.K149E|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	149	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGAACTCTTCTGAACTGAG	0.527			T	BCL6	NHL								T|||	455	0.0908546	0.2625	0.036	5008	,	,		19359	0.005		0.0268	False		,,,				2504	0.0521				p.K149E		Atlas-SNP	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131	.	0			c.A445G						PASS	.	T	GLU/LYS,,,	667,2469		77,513,978	53	51	52		445,,,	3.4	0.9	12	dbSNP_123	52	198,6966		3,192,3387	yes	missense,intron,intron,intron	NACA	NM_001113203.2,NM_001113201.1,NM_001113202.1,NM_005594.4	56,,,	80,705,4365	CC,CT,TT		2.7638,21.2691,8.3981	probably-damaging,,,	149/926,,,	57114869	865,9435	1568	3582	5150	SO:0001583	missense	4666	exon3			AACTCTTCTGAAC	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.445A>G	12.37:g.57114869T>C	ENSP00000403817:p.Lys149Glu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	37		142	0.06501831501831502	102	0.2073170731707317	16	0.04419889502762431	3	0.005244755244755245	21	0.027704485488126648	T	13.17	2.158250	0.38119	0.212691	0.027638	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.28895	1.59;1.59	3.38	3.38	0.38709	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.51767	P	6.60000000000105E-5	D;D	0.76494	0.999;0.996	D;D	0.75484	0.986;0.986	T	0.11743	-1.0575	8	0.87932	D	0	.	8.4227	0.32710	0.0:0.0:0.0:1.0	rs17118953;rs17118953	149;149	E9PAV3;F8VU71	.;.	E	149	ENSP00000403817:K149E;ENSP00000448035:K149E	ENSP00000403817:K149E	K	-	1	0	NACA	55401136	0.994000	0.37717	0.940000	0.37924	0.607000	0.37147	1.402000	0.34600	1.564000	0.49628	0.241000	0.17934	AAG	T|0.920;C|0.080	0.080	strong		0.527	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57114869	T	C	57114869	3	2	22	1	0	0	0	0	1	0	0	0	10133	1792	62	2	5819	2	NACA	12	57114869	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	120699	57114869	76737026	6852	11960										
GPR182	11318	hgsc.bcm.edu	37	chr12	57389536	57389536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggcatctgggtcctctcGgccatcatcccgctgcctga	11	16	3	1	rs61740222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57389536G>A	ENST00000300098.1	+	2	762	c.543G>A	c.(541-543)tcG>tcA	p.S181S	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	181					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGGTCCTCTCGGCCATCATCC	0.642													G|||	65	0.0129792	0.0492	0.0	5008	,	,		19981	0.0		0.0	False		,,,				2504	0.0				p.S181S		Atlas-SNP	.											.	GPR182	35	.	0			c.G543A						PASS	.	G		158,4248	106.5+/-144.9	2,154,2047	61	53	56		543	-8.9	0.1	12	dbSNP_129	56	2,8598		0,2,4298	no	coding-synonymous	GPR182	NM_007264.3		2,156,6345	AA,AG,GG		0.0233,3.586,1.2302		181/405	57389536	160,12846	2203	4300	6503	SO:0001819	synonymous_variant	11318	exon2			CCTCTCGGCCATC	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.543G>A	12.37:g.57389536G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	53	0.514563	NM_007264		Silent	SNP	ENST00000300098.1	37	CCDS8927.1																																																																																			G|0.987;A|0.013	0.013	strong		0.642	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		A	57389536	G	A	57389536	2	1	22	1	0	0	0	0	0	0	0	1	6677	1103	39	1		1	GPR182	12	57389536	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	274667	57389536	76462359	6853	11961										
TAC3	6866	hgsc.bcm.edu	37	chr12	57406234	57406234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgattcacatccgtaggagAgtctagggtaaagcgaacag	12	7	2	2	rs73334764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57406234A>G	ENST00000458521.2	-	6	454	c.295T>C	c.(295-297)Tct>Cct	p.S99P	TAC3_ENST00000415231.1_Missense_Mutation_p.S99P|TAC3_ENST00000441881.1_Missense_Mutation_p.S81P	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	99					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TCCGTAGGAGAGTCTAGGGTA	0.488													A|||	125	0.0249601	0.0893	0.0101	5008	,	,		16633	0.0		0.0	False		,,,				2504	0.0				p.S99P		Atlas-SNP	.											.	TAC3	11	.	0			c.T295C						PASS	.	A	PRO/SER,PRO/SER	347,4059	180.8+/-209.0	17,313,1873	73	66	68		241,295	-0.9	0	12	dbSNP_130	68	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense	TAC3	NM_001178054.1,NM_013251.3	74,74	17,315,6171	GG,GA,AA		0.0233,7.8756,2.6834	possibly-damaging,possibly-damaging	81/104,99/122	57406234	349,12657	2203	4300	6503	SO:0001583	missense	6866	exon6			TAGGAGAGTCTAG	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.295T>C	12.37:g.57406234A>G	ENSP00000404056:p.Ser99Pro	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_013251	Q6IAG2|Q71BC6|Q71BC9	Missense_Mutation	SNP	ENST00000458521.2	37	CCDS8928.1	40	0.018315018315018316	36	0.07317073170731707	4	0.011049723756906077	0	0.0	0	0.0	A	10.20	1.285372	0.23478	0.078756	2.33E-4	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	D;T;D	0.83250	-1.7;-1.07;-1.7	5.0	-0.857	0.10693	.	.	.	.	.	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15263	-1.0443	9	0.40728	T	0.16	.	6.259	0.20889	0.1768:0.0:0.4637:0.3595	.	99;81	Q9UHF0;Q9UHF0-3	TKNK_HUMAN;.	P	99;81;99	ENSP00000404056:S99P;ENSP00000408208:S81P;ENSP00000402995:S99P	ENSP00000300108:S99P	S	-	1	0	TAC3	55692501	0.002000	0.14202	0.003000	0.11579	0.008000	0.06430	-0.120000	0.10660	0.002000	0.14630	-0.490000	0.04691	TCT	A|0.971;G|0.029	0.029	strong		0.488	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		G	57406234	A	G	57406234	3	3	22	1	0	0	0	0	1	0	0	0	15496	304	11	3	74	3	TAC3	12	57406234	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16698	57406234	76445661	6854	11962										
LRP1	4035	hgsc.bcm.edu	37	chr12	57578696	57578696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggagacaggtgagaaccgCgaggtggttctgtccagcaa	15	9	1	2	rs140921686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57578696C>T	ENST00000243077.3	+	39	6727	c.6261C>T	c.(6259-6261)cgC>cgT	p.R2087R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2087					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGAGAACCGCGAGGTGGTTC	0.542													C|||	18	0.00359425	0.0023	0.0	5008	,	,		21048	0.0149		0.0	False		,,,				2504	0.0				p.R2087R		Atlas-SNP	.											.	LRP1	428	.	0			c.C6261T						PASS	.	C		6,4400	11.4+/-27.6	0,6,2197	189	162	171		6261	-10.3	0.7	12	dbSNP_134	171	0,8600		0,0,4300	no	coding-synonymous	LRP1	NM_002332.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		2087/4545	57578696	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	4035	exon39			GAACCGCGAGGTG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6261C>T	12.37:g.57578696C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	144	79	0.548611	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																			C|0.999;T|0.001	0.001	strong		0.542	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57578696	C	T	57578696	2	4	22	1	0	0	0	0	0	0	0	1	8951	755	27	1		1	LRP1	12	57578696	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	172462	57578696	76273199	6855	11963										
LRP1	4035	hgsc.bcm.edu	37	chr12	57603647	57603647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccatcagcacaagcagccCgaaggtgggggcagagggga	16	10	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57603647C>T	ENST00000243077.3	+	80	12901	c.12435C>T	c.(12433-12435)ccC>ccT	p.P4145P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4145					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P4145P(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGCAGCCCGAAGGTGGGG	0.632																																					p.P4145P		Atlas-SNP	.											LRP1,bladder,carcinoma,0,1	LRP1	428	1	1	Substitution - coding silent(1)	urinary_tract(1)	c.C12435T						PASS	.						35	37	36					12																	57603647		2203	4300	6503	SO:0001819	synonymous_variant	4035	exon80			GCAGCCCGAAGGT	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12435C>T	12.37:g.57603647C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	52	30	0.576923	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																			.	.	none		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57603647	C	T	57603647	2	4	22	1	0	0	0	0	0	0	0	1	8951	639	23	1		1	LRP1	12	57603647	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24951	57603647	76248248	6856	11964										
NXPH4	11247	hgsc.bcm.edu	37	chr12	57619362	57619362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaccgtgcctgtacgacccGtcgcaggtgtgcttcaccga	12	15	1	0	rs10783816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57619362G>A	ENST00000349394.5	+	2	934	c.759G>A	c.(757-759)ccG>ccA	p.P253P	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	253	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.P253P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTACGACCCGTCGCAGGTGT	0.592													A|||	1757	0.350839	0.3147	0.4337	5008	,	,		15675	0.4752		0.334	False		,,,				2504	0.2301				p.P253P		Atlas-SNP	.											NXPH4,NS,carcinoma,0,3	NXPH4	40	3	1	Substitution - coding silent(1)	stomach(1)	c.G759A						PASS	.	A		1390,3016	685.1+/-404.5	204,982,1017	48	50	49		759	-4.8	0.8	12	dbSNP_120	49	2836,5764	673.5+/-403.0	460,1916,1924	no	coding-synonymous	NXPH4	NM_007224.3		664,2898,2941	AA,AG,GG		32.9767,31.5479,32.4927		253/309	57619362	4226,8780	2203	4300	6503	SO:0001819	synonymous_variant	11247	exon2			CGACCCGTCGCAG	AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.759G>A	12.37:g.57619362G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	87	44	0.505747	NM_007224	A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																			G|0.659;A|0.341	0.341	strong		0.592	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		A	57619362	G	A	57619362	2	1	22	1	0	0	0	0	0	0	0	1	10793	1132	40	1		1	NXPH4	12	57619362	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15715	57619362	76232533	6857	11965										
SHMT2	6472	hgsc.bcm.edu	37	chr12	57627074	57627074	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgccgtgttcccatccctGcaggggggcccccacaatca	10	16	1	0	rs2229717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57627074G>T	ENST00000328923.3	+	8	1421	c.969G>T	c.(967-969)ctG>ctT	p.L323L	SHMT2_ENST00000553474.1_Silent_p.L302L|SHMT2_ENST00000449049.3_Silent_p.L302L|SHMT2_ENST00000414700.3_Silent_p.L302L|SHMT2_ENST00000557487.1_Silent_p.L313L|SHMT2_ENST00000393827.4_Silent_p.L227L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	323					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCCCATCCCTGCAGGGGGGCC	0.582													g|||	434	0.0866613	0.0371	0.0591	5008	,	,		20268	0.2272		0.0507	False		,,,				2504	0.0654				p.L323L	Esophageal Squamous(150;1369 2416 49071 49364)	Atlas-SNP	.											.	SHMT2	40	.	0			c.G969T						PASS	.	A	,,,,	122,4284	89.2+/-127.9	1,120,2082	52	55	54		939,906,906,906,969	0.6	1	12	dbSNP_98	54	291,8309	107.6+/-168.3	10,271,4019	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SHMT2	NM_001166356.1,NM_001166357.1,NM_001166358.1,NM_001166359.1,NM_005412.5	,,,,	11,391,6101	TT,TG,GG		3.3837,2.769,3.1755	,,,,	313/495,302/484,302/484,302/484,323/505	57627074	413,12593	2203	4300	6503	SO:0001819	synonymous_variant	6472	exon8			ATCCCTGCAGGGG	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.969G>T	12.37:g.57627074G>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	157	89	0.566879	NM_005412	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	CCDS8934.1	165	0.07554945054945054	18	0.036585365853658534	17	0.04696132596685083	90	0.15734265734265734	40	0.052770448548812667	g	7.809	0.715364	0.15306	0.02769	0.033837	ENSG00000182199	ENST00000557529	.	.	.	4.58	0.592	0.17471	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.16335	-1.0406	3	.	.	.	-0.6784	1.6307	0.02732	0.2524:0.1406:0.4627:0.1443	rs2229717	.	.	.	S	123	.	.	A	+	1	0	SHMT2	55913341	0.195000	0.23338	0.968000	0.41197	0.882000	0.50991	-0.481000	0.06552	0.021000	0.15133	-0.222000	0.12452	GCA	G|0.952;T|0.048	0.048	strong		0.582	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		T	57627074	G	T	57627074	2	4	22	1	0	0	0	0	0	0	0	1	14286	1306	46	4		4	SHMT2	12	57627074	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7712	57627074	76224821	6858	11966										
MBD6	114785	hgsc.bcm.edu	37	chr12	57920368	57920368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcccctgccccaccagcTgcctccaaagccccagtagt	9	19	0	0	rs34551572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:57920368T>C	ENST00000355673.3	+	7	1796	c.1440T>C	c.(1438-1440)gcT>gcC	p.A480A	MBD6_ENST00000431731.2_Silent_p.A480A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	480	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCACCAGCTGCCTCCAAAG	0.632													T|||	469	0.0936502	0.3328	0.0389	5008	,	,		15994	0.0		0.001	False		,,,				2504	0.001				p.A480A		Atlas-SNP	.											.	MBD6	99	.	0			c.T1440C						PASS	.	T		1234,3172		199,836,1168	51	66	61		1440	2.8	1	12	dbSNP_126	61	14,8586		0,14,4286	no	coding-synonymous	MBD6	NM_052897.3		199,850,5454	CC,CT,TT		0.1628,28.0073,9.5956		480/1004	57920368	1248,11758	2203	4300	6503	SO:0001819	synonymous_variant	114785	exon7			ACCAGCTGCCTCC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1440T>C	12.37:g.57920368T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	146	65	0.445205	NM_052897	Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	CCDS8944.1																																																																																			T|0.893;C|0.107	0.107	strong		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			C	57920368	T	C	57920368	2	2	22	1	0	0	0	0	0	0	0	1	9348	1567	55	3		3	MBD6	12	57920368	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	293294	57920368	75931527	6859	11967										
SLC26A10	65012	hgsc.bcm.edu	37	chr12	58017665	58017665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcctgtcggtgctgctgtGgctggggcccttcttttact	14	11	1	0	rs115563091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:58017665G>A	ENST00000320442.4	+	8	1411	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*	SLC26A10_ENST00000379218.2_Nonsense_Mutation_p.W367*	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	367						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTGCTGCTGTGGCTGGGGCCC	0.562													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0				p.W367X		Atlas-SNP	.											.	SLC26A10	89	.	0			c.G1100A						PASS	.	G	stop/TRP	21,4385		0,21,2182	98	100	100		1100	3.9	1	12	dbSNP_132	100	0,8600		0,0,4300	yes	stop-gained	SLC26A10	NM_133489.2		0,21,6482	AA,AG,GG		0.0,0.4766,0.1615		367/564	58017665	21,12985	2203	4300	6503	SO:0001587	stop_gained	65012	exon8			TGCTGTGGCTGGG		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1100G>A	12.37:g.58017665G>A	ENSP00000320217:p.Trp367*	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	71	40	0.56338	NM_133489	A6NMJ2|B6ZDQ3|Q6ZWI7	Nonsense_Mutation	SNP	ENST00000320442.4	37	CCDS8949.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	37	6.630732	0.97718	0.004766	0.0	ENSG00000135502	ENST00000320442;ENST00000379218	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	14.2309	0.65892	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000320217:W367X	W	+	2	0	SLC26A10	56303932	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.320000	0.59203	2.471000	0.83476	0.561000	0.74099	TGG	G|0.999;A|0.001	0.001	strong		0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			A	58017665	G	A	58017665	4	1	22	1	0	0	0	0	0	1	0	0	14515	1357	47	2	1130	2	SLC26A10	12	58017665	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97297	58017665	75834230	6860	11968										
SLC26A10	65012	hgsc.bcm.edu	37	chr12	58019388	58019388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgcaggggacactgaccCgggtaggactcctggacagg	17	10	0	1	rs114079678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:58019388C>T	ENST00000320442.4	+	14	1863	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	SLC26A10_ENST00000490243.1_Intron|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	518	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GACACTGACCCGGGTAGGACT	0.587													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19242	0.0		0.0	False		,,,				2504	0.0				p.R518W		Atlas-SNP	.											.	SLC26A10	89	.	0			c.C1552T						PASS	.	C	TRP/ARG	21,4385		0,21,2182	63	58	60		1552	1.2	0.8	12	dbSNP_133	60	1,8599		0,1,4299	yes	missense	SLC26A10	NM_133489.2	101	0,22,6481	TT,TC,CC		0.0116,0.4766,0.1692	probably-damaging	518/564	58019388	22,12984	2203	4300	6503	SO:0001583	missense	65012	exon14			CTGACCCGGGTAG		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1552C>T	12.37:g.58019388C>T	ENSP00000320217:p.Arg518Trp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	82	35	0.426829	NM_133489	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	CCDS8949.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	9.455	1.091629	0.20471	0.004766	1.16E-4	ENSG00000135502	ENST00000320442	D	0.89343	-2.5	4.62	1.25	0.21368	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.81531	0.4842	L	0.56199	1.76	0.41713	D	0.989468	B	0.27316	0.175	B	0.14023	0.01	T	0.76225	-0.3037	9	0.87932	D	0	.	1.6978	0.02866	0.2061:0.4624:0.1995:0.132	.	518	Q8NG04	S2610_HUMAN	W	518	ENSP00000320217:R518W	ENSP00000320217:R518W	R	+	1	2	SLC26A10	56305655	0.903000	0.30736	0.796000	0.32109	0.255000	0.26057	0.125000	0.15749	0.554000	0.29061	0.557000	0.71058	CGG	C|0.999;T|0.001	0.001	strong		0.587	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			T	58019388	C	T	58019388	3	4	22	1	0	0	0	0	1	0	0	0	14515	643	23	1	1606	1	SLC26A10	12	58019388	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1723	58019388	75832507	6861	11969										
FAM119B	25895	hgsc.bcm.edu	37	chr12	58174306	58174306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaagatgagaaaggagcaTgggacagagagcttctttca	12	7	2	3	rs923829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:58174306T>C	ENST00000300209.8	+	3	683	c.558T>C	c.(556-558)caT>caC	p.H186H	TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000543727.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|TSFM_ENST00000548851.1_5'Flank|METTL21B_ENST00000551420.1_Silent_p.H5H|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000540550.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000333012.5_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	186						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GAAAGGAGCATGGGACAGAGA	0.567													t|||	2024	0.404153	0.2141	0.2767	5008	,	,		21672	0.6468		0.3191	False		,,,				2504	0.589				p.H186H		Atlas-SNP	.											.	METTL21B	16	.	0			c.T558C						PASS	.	T	,	1018,3388	377.5+/-322.5	116,786,1301	69	60	63		558,	-2.5	1	12	dbSNP_86	63	2755,5845	438.5+/-358.9	456,1843,2001	no	coding-synonymous,utr-3	METTL21B	NM_015433.2,NM_206914.1	,	572,2629,3302	CC,CT,TT		32.0349,23.1049,29.0097	,	186/227,	58174306	3773,9233	2203	4300	6503	SO:0001819	synonymous_variant	25895	exon3			GGAGCATGGGACA	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.558T>C	12.37:g.58174306T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	65	36	0.553846	NM_015433	Q9H749|Q9Y3W2	Silent	SNP	ENST00000300209.8	37	CCDS8957.1																																																																																			T|0.672;C|0.328	0.328	strong		0.567	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		C	58174306	T	C	58174306	2	2	22	1	0	0	0	0	0	0	0	1	5414	1461	51	2		2	FAM119B	12	58174306	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	154918	58174306	75677589	6862	11970										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64057543	64057543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagaaacctaaccatttCagtgcgaaaagtcatctccc	6	11	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:64057543C>T	ENST00000324472.4	-	3	628	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	149					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E149*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333																																					p.E149K		Atlas-SNP	.											DPY19L2,caecum,carcinoma,0,1	DPY19L2	97	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.G445A						scavenged	.						58	55	56					12																	64057543		2203	4299	6502	SO:0001583	missense	283417	exon3			CCATTTCAGTGCG		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.445G>A	12.37:g.64057543C>T	ENSP00000315988:p.Glu149Lys	Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	344	21	0.0610465	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990830	0.54041	.	.	ENSG00000177990	ENST00000324472;ENST00000538147	T;T	0.68331	-0.32;-0.32	2.5	2.5	0.30297	.	0.000000	0.85682	U	0.000000	T	0.81230	0.4779	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.83031	-0.0162	9	.	.	.	.	10.7323	0.46104	0.0:1.0:0.0:0.0	.	149	Q6NUT2	D19L2_HUMAN	K	149;6	ENSP00000315988:E149K;ENSP00000439567:E6K	.	E	-	1	0	DPY19L2	62343810	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	6.967000	0.76079	1.389000	0.46526	0.184000	0.17185	GAA	.	.	none		0.333	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		T	64057543	C	T	64057543	3	4	22	1	0	0	0	0	1	0	0	0	4741	835	29	2	1911	2	DPY19L2	12	64057543	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5883237	64057543	69794352	6863	11971										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062023	64062023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccggggaggacctccaggAgccccttggcagtttcccgc	13	17	0	0	rs10878073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:64062023A>C	ENST00000324472.4	-	1	334	c.151T>G	c.(151-153)Tcc>Gcc	p.S51A	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	51			S -> A (in dbSNP:rs10878073). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GACCTCCAGGAGCCCCTTGGC	0.642													a|||	1979	0.395168	0.4425	0.2565	5008	,	,		15241	0.5714		0.1978	False		,,,				2504	0.4509				p.S51A		Atlas-SNP	.											.	DPY19L2	97	.	0			c.T151G						PASS	.	A	ALA/SER	1708,2698		318,1072,813	43	53	49		151	-2.2	0	12	dbSNP_120	49	1715,6881		177,1361,2760	yes	missense	DPY19L2	NM_173812.4	99	495,2433,3573	CC,CA,AA		19.9511,38.7653,26.3267	benign	51/759	64062023	3423,9579	2203	4298	6501	SO:0001583	missense	283417	exon1			TCCAGGAGCCCCT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.151T>G	12.37:g.64062023A>C	ENSP00000315988:p.Ser51Ala	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	177	73	0.412429	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	748	0.3424908424908425	180	0.36585365853658536	98	0.27071823204419887	324	0.5664335664335665	146	0.19261213720316622	a	2.066	-0.414146	0.04766	0.387653	0.199511	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.32753	1.44;2.38	1.61	-2.25	0.06888	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.43893	-0.9363	7	.	.	.	.	7.1276	0.25482	0.6882:0.3118:0.0:0.0	rs10878073;rs10878073	51	Q6NUT2	D19L2_HUMAN	A	51	ENSP00000315988:S51A;ENSP00000444932:S51A	.	S	-	1	0	DPY19L2	62348290	0.378000	0.25114	0.010000	0.14722	0.014000	0.08584	-0.429000	0.06982	-0.692000	0.05128	-1.193000	0.01689	TCC	A|0.717;C|0.283	0.283	strong		0.642	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	64062023	A	C	64062023	3	2	22	1	0	0	0	0	1	0	0	0	4741	304	11	5	2213	5	DPY19L2	12	64062023	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4480	64062023	69789872	6864	11972										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062052	64062052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtttcccgccgcctaggGccgacttttccatctcctcc	8	18	1	0	rs10878074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:64062052G>A	ENST00000324472.4	-	1	305	c.122C>T	c.(121-123)gCc>gTc	p.A41V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	41			A -> V (in dbSNP:rs10878074). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCCGCCTAGGGCCGACTTTTC	0.657													G|||	1979	0.395168	0.4425	0.2565	5008	,	,		14964	0.5714		0.1978	False		,,,				2504	0.4509				p.A41V		Atlas-SNP	.											.	DPY19L2	97	.	0			c.C122T						PASS	.	G	VAL/ALA	1679,2717		309,1061,828	32	41	38		122	-0.6	0	12	dbSNP_120	38	1704,6888		179,1346,2771	yes	missense	DPY19L2	NM_173812.4	64	488,2407,3599	AA,AG,GG		19.8324,38.1938,26.0471	benign	41/759	64062052	3383,9605	2198	4296	6494	SO:0001583	missense	283417	exon1			CCTAGGGCCGACT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.122C>T	12.37:g.64062052G>A	ENSP00000315988:p.Ala41Val	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	166	68	0.409639	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	766	0.3507326007326007	189	0.38414634146341464	99	0.27348066298342544	330	0.5769230769230769	148	0.19525065963060687	G	4.869	0.161472	0.09287	0.381938	0.198324	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.39787	1.06;1.82	1.61	-0.623	0.11556	.	0.555051	0.14868	N	0.293715	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.04013	0.001	T	0.44937	-0.9295	8	.	.	.	.	2.4499	0.04516	0.2454:0.3274:0.4272:0.0	rs10878074	41	Q6NUT2	D19L2_HUMAN	V	41	ENSP00000315988:A41V;ENSP00000444932:A41V	.	A	-	2	0	DPY19L2	62348319	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.946000	0.29069	-0.190000	0.10465	0.195000	0.17529	GCC	G|0.718;A|0.282	0.282	strong		0.657	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64062052	G	A	64062052	3	1	22	1	0	0	0	0	1	0	0	0	4741	1203	42	2	2242	2	DPY19L2	12	64062052	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29	64062052	69789843	6865	11973										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062065	64062065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctagggccgacttttccaTctcctcctctacctccggct	7	18	2	0	rs10878075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:64062065T>C	ENST00000324472.4	-	1	292	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	37			M -> V (in dbSNP:rs10878075). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GACTTTTCCATCTCCTCCTCT	0.642													C|||	1980	0.395367	0.4433	0.2565	5008	,	,		14843	0.5714		0.1978	False		,,,				2504	0.4509				p.M37V		Atlas-SNP	.											.	DPY19L2	97	.	0			c.A109G						PASS	.	C	VAL/MET	1659,2729		308,1043,843	28	36	34		109	0.6	0	12	dbSNP_120	34	1695,6897		179,1337,2780	no	missense	DPY19L2	NM_173812.4	21	487,2380,3623	CC,CT,TT		19.7277,37.8077,25.8398	benign	37/759	64062065	3354,9626	2194	4296	6490	SO:0001583	missense	283417	exon1			TTTCCATCTCCTC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.109A>G	12.37:g.64062065T>C	ENSP00000315988:p.Met37Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	154	60	0.38961	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	767	0.35119047619047616	189	0.38414634146341464	99	0.27348066298342544	331	0.5786713286713286	148	0.19525065963060687	C	1.696	-0.502757	0.04261	0.378077	0.197277	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.34072	1.38;1.99	1.61	0.65	0.17812	.	1.705710	0.04502	N	0.381454	T	0.00012	0.0000	N	0.03608	-0.345	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	8	.	.	.	.	2.3121	0.04189	0.2942:0.512:0.0:0.1938	rs10878075;rs10878075	37	Q6NUT2	D19L2_HUMAN	V	37	ENSP00000315988:M37V;ENSP00000444932:M37V	.	M	-	1	0	DPY19L2	62348332	0.000000	0.05858	0.007000	0.13788	0.027000	0.11550	-1.353000	0.02617	-0.139000	0.11414	-1.063000	0.02288	ATG	T|0.711;C|0.289	0.289	strong		0.642	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	64062065	T	C	64062065	3	2	22	1	0	0	0	0	1	0	0	0	4741	1435	50	2	2255	2	DPY19L2	12	64062065	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13	64062065	69789830	6866	11974										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062132	64062132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttagactggctgcggccGgaagattgcagccgctttga	13	12	0	3	rs11175111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:64062132G>A	ENST00000324472.4	-	1	225	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	14					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGCTGCGGCCGGAAGATTGCA	0.617													G|||	457	0.091254	0.121	0.0231	5008	,	,		14854	0.1329		0.0119	False		,,,				2504	0.138				p.S14S		Atlas-SNP	.											.	DPY19L2	97	.	0			c.C42T						PASS	.	G		338,3996		13,312,1842	12	15	14		42	0.5	0	12	dbSNP_120	14	130,8398		1,128,4135	no	coding-synonymous	DPY19L2	NM_173812.4		14,440,5977	AA,AG,GG		1.5244,7.7988,3.6386		14/759	64062132	468,12394	2167	4264	6431	SO:0001819	synonymous_variant	283417	exon1			GCGGCCGGAAGAT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.42C>T	12.37:g.64062132G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	CCDS31851.1																																																																																			G|0.957;A|0.043	0.043	strong		0.617	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64062132	G	A	64062132	2	1	22	1	0	0	0	0	0	0	0	1	4741	1103	39	1		1	DPY19L2	12	64062132	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67	64062132	69789763	6867	11975										
WIF1	11197	hgsc.bcm.edu	37	chr12	65514266	65514266	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagctggcattctctgttgTgcttttctgaaatcatgtgt	9	7	3	1	rs7301320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:65514266T>C	ENST00000286574.4	-	2	593	c.219A>G	c.(217-219)gcA>gcG	p.A73A		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	73	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCTCTGTTGTGCTTTTCTGA	0.363			T	HMGA2	pleomorphic salivary gland adenoma								C|||	4127	0.824081	0.7632	0.7118	5008	,	,		19699	0.999		0.7465	False		,,,				2504	0.8855				p.A73A	Esophageal Squamous(148;1595 1816 48559 49439 49664)	Atlas-SNP	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1	96	.	0			c.A219G						PASS	.	C		3360,1046	383.2+/-324.8	1271,818,114	140	144	143		219	-6	0.9	12	dbSNP_116	143	6363,2237	379.9+/-339.4	2330,1703,267	no	coding-synonymous	WIF1	NM_007191.4		3601,2521,381	CC,CT,TT		26.0116,23.7404,25.2422		73/380	65514266	9723,3283	2203	4300	6503	SO:0001819	synonymous_variant	11197	exon2			CTGTTGTGCTTTT	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.219A>G	12.37:g.65514266T>C		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	139	64	0.460432	NM_007191	Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	CCDS8971.1																																																																																			T|0.221;C|0.779	0.779	strong		0.363	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			C	65514266	T	C	65514266	2	2	22	1	0	0	0	0	0	0	0	1	17363	1683	59	2		2	WIF1	12	65514266	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1452134	65514266	68337629	6868	11976										
IRAK3	11213	hgsc.bcm.edu	37	chr12	66641813	66641813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaagtatatagttccatcCcaggacttaaggccctataa	6	11	0	0	rs11465988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:66641813C>T	ENST00000261233.4	+	12	2074	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S	IRAK3_ENST00000457197.2_Silent_p.S490S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TAGTTCCATCCCAGGACTTAA	0.463													C|||	187	0.0373403	0.118	0.0288	5008	,	,		18571	0.001		0.0089	False		,,,				2504	0.001				p.S551S		Atlas-SNP	.											.	IRAK3	75	.	0			c.C1653T						PASS	.	C	,	402,4004	199.8+/-223.2	23,356,1824	121	131	127		1470,1653	2.7	0.6	12	dbSNP_120	127	26,8574	17.3+/-56.4	0,26,4274	no	coding-synonymous,coding-synonymous	IRAK3	NM_001142523.1,NM_007199.2	,	23,382,6098	TT,TC,CC		0.3023,9.1239,3.2908	,	490/536,551/597	66641813	428,12578	2203	4300	6503	SO:0001819	synonymous_variant	11213	exon12			TCCATCCCAGGAC	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1653C>T	12.37:g.66641813C>T		Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_007199		Silent	SNP	ENST00000261233.4	37	CCDS8975.1																																																																																			C|0.968;T|0.032	0.032	strong		0.463	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			T	66641813	C	T	66641813	2	4	22	1	0	0	0	0	0	0	0	1	7824	610	22	2		2	IRAK3	12	66641813	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1127547	66641813	67210082	6869	11977										
HELB	92797	hgsc.bcm.edu	37	chr12	66700273	66700273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagattttaggtacacatccGtggaaacttggatttagtaa	10	5	0	1	rs12227179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:66700273G>A	ENST00000247815.4	+	3	815	c.756G>A	c.(754-756)ccG>ccA	p.P252P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	252					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACACATCCGTGGAAACTTG	0.363													G|||	343	0.0684904	0.0802	0.013	5008	,	,		17951	0.1468		0.003	False		,,,				2504	0.0787				p.P252P		Atlas-SNP	.											.	HELB	90	.	0			c.G756A						PASS	.	G		304,4102	164.4+/-196.0	6,292,1905	100	106	104		756	-5.3	0.9	12	dbSNP_120	104	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous	HELB	NM_033647.2		6,319,6178	AA,AG,GG		0.314,6.8997,2.545		252/1088	66700273	331,12675	2203	4300	6503	SO:0001819	synonymous_variant	92797	exon3			ACATCCGTGGAAA	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.756G>A	12.37:g.66700273G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	83	33	0.39759	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																			G|0.966;A|0.034	0.034	strong		0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			A	66700273	G	A	66700273	2	1	22	1	0	0	0	0	0	0	0	1	7045	1132	40	1		1	HELB	12	66700273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58460	66700273	67151622	6870	11978										
HELB	92797	hgsc.bcm.edu	37	chr12	66717910	66717910	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaagacttttctggtacGcttcctgattttgctaaaaa	8	7	1	3	rs34109029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:66717910G>T	ENST00000247815.4	+	10	2504	c.2445G>T	c.(2443-2445)acG>acT	p.T815T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	815					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTCTGGTACGCTTCCTGATT	0.368													T|||	655	0.130791	0.2814	0.0375	5008	,	,		18364	0.1498		0.0199	False		,,,				2504	0.0879				p.T815T		Atlas-SNP	.											.	HELB	90	.	0			c.G2445T						PASS	.	T		1029,3377	726.9+/-409.8	126,777,1300	100	109	106		2445	0.1	0	12	dbSNP_126	106	101,8499	814.3+/-407.0	0,101,4199	no	coding-synonymous	HELB	NM_033647.2		126,878,5499	TT,TG,GG		1.1744,23.3545,8.6883		815/1088	66717910	1130,11876	2203	4300	6503	SO:0001819	synonymous_variant	92797	exon10			TGGTACGCTTCCT	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2445G>T	12.37:g.66717910G>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																			G|0.913;T|0.087	0.087	strong		0.368	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			T	66717910	G	T	66717910	2	4	22	1	0	0	0	0	0	0	0	1	7045	1074	38	4		4	HELB	12	66717910	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17637	66717910	67133985	6871	11979										
DYRK2	8445	hgsc.bcm.edu	37	chr12	68052166	68052166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggggcccaccggagagCagagagtgggggaacgcgct	19	10	0	3	rs56178357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:68052166C>T	ENST00000344096.3	+	3	1892	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.S420S	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CACCGGAGAGCAGAGAGTGGG	0.572													C|||	538	0.107428	0.382	0.0447	5008	,	,		19022	0.0		0.002	False		,,,				2504	0.0				p.S493S		Atlas-SNP	.											.	DYRK2	63	.	0			c.C1479T						PASS	.	C	,	1334,3072	442.3+/-346.6	195,944,1064	59	62	61		1260,1479	5.2	1	12	dbSNP_129	61	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	DYRK2	NM_003583.3,NM_006482.2	,	195,953,5355	TT,TC,CC		0.1047,30.2769,10.326	,	420/529,493/602	68052166	1343,11663	2203	4300	6503	SO:0001819	synonymous_variant	8445	exon3			GGAGAGCAGAGAG	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1479C>T	12.37:g.68052166C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	170	85	0.5	NM_006482	B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	CCDS8978.1																																																																																			C|0.909;T|0.091	0.091	strong		0.572	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68052166	C	T	68052166	2	4	22	1	0	0	0	0	0	0	0	1	4856	709	25	2		2	DYRK2	12	68052166	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1334256	68052166	65799729	6872	11980										
CPM	1368	hgsc.bcm.edu	37	chr12	69252715	69252715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacttacatttattatataAgacccaggcaagagaaggag	8	6	0	2	rs1143653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:69252715A>G	ENST00000551568.1	-	8	1137	c.1077T>C	c.(1075-1077)tcT>tcC	p.S359S	CPM_ENST00000338356.3_Silent_p.S359S|CPM_ENST00000546373.1_Silent_p.S359S	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	359					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATTATATAAGACCCAGGCA	0.328													G|||	907	0.18111	0.323	0.2075	5008	,	,		12922	0.0139		0.2117	False		,,,				2504	0.1115				p.S359S		Atlas-SNP	.											.	CPM	30	.	0			c.T1077C						PASS	.	G	,,	1311,3095	692.4+/-405.5	193,925,1085	79	78	78		1077,1077,1077	0.9	0.7	12	dbSNP_86	78	1780,6818	729.6+/-406.7	194,1392,2713	no	coding-synonymous,coding-synonymous,coding-synonymous	CPM	NM_001005502.2,NM_001874.4,NM_198320.3	,,	387,2317,3798	GG,GA,AA		20.7025,29.7549,23.7696	,,	359/444,359/444,359/444	69252715	3091,9913	2203	4299	6502	SO:0001819	synonymous_variant	1368	exon8			TATATAAGACCCA	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1077T>C	12.37:g.69252715A>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	48	48	1	NM_001005502	B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	CCDS8987.1	369	0.16895604395604397	135	0.27439024390243905	69	0.19060773480662985	8	0.013986013986013986	157	0.20712401055408972	G	7.668	0.686302	0.14973	0.297549	0.207025	ENSG00000135678	ENST00000551897	.	.	.	5.38	0.945	0.19543	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999906543	.	.	.	.	.	.	T	0.36212	-0.9757	3	.	.	.	-6.6564	1.4215	0.02313	0.2953:0.1051:0.3859:0.2137	rs1143653;rs17225048;rs17362456;rs60210122;rs17225048	.	.	.	P	162	.	.	L	-	2	0	CPM	67538982	0.910000	0.30920	0.683000	0.30040	0.966000	0.64601	-0.043000	0.12043	0.023000	0.15187	-0.374000	0.07098	CTT	T|0.153;G|0.175;C|0.041;A|0.631	0.175	strong		0.328	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		G	69252715	A	G	69252715	2	3	22	1	0	0	0	0	0	0	0	1	3808	59	3	3		3	CPM	12	69252715	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1200549	69252715	64599180	6873	11981										
CPM	1368	hgsc.bcm.edu	37	chr12	69326547	69326547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcttccatcccttcctggCggtggtagttgaaatccagc	10	13	0	1	rs7978197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:69326547C>T	ENST00000551568.1	-	2	131	c.71G>A	c.(70-72)cGc>cAc	p.R24H	CPM_ENST00000338356.3_Missense_Mutation_p.R24H|CPM_ENST00000546373.1_Missense_Mutation_p.R24H	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	24			R -> H (in dbSNP:rs7978197).		anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CCCTTCCTGGCGGTGGTAGTT	0.473													T|||	908	0.18131	0.6021	0.0677	5008	,	,		19760	0.003		0.0159	False		,,,				2504	0.047				p.R24H		Atlas-SNP	.											CPM,NS,carcinoma,-1,1	CPM	30	1	0			c.G71A						PASS	.	T	HIS/ARG,HIS/ARG,HIS/ARG	2145,2261	596.6+/-388.7	506,1133,564	116	114	114		71,71,71	4.1	1	12	dbSNP_116	114	147,8453	813.0+/-407.0	1,145,4154	yes	missense,missense,missense	CPM	NM_001005502.2,NM_001874.4,NM_198320.3	29,29,29	507,1278,4718	TT,TC,CC		1.7093,48.6836,17.6226	benign,benign,benign	24/444,24/444,24/444	69326547	2292,10714	2203	4300	6503	SO:0001583	missense	1368	exon2			TCCTGGCGGTGGT	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.71G>A	12.37:g.69326547C>T	ENSP00000448517:p.Arg24His	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_001005502	B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	CCDS8987.1	330	0.1510989010989011	292	0.5934959349593496	22	0.06077348066298342	2	0.0034965034965034965	14	0.018469656992084433	T	10.68	1.419258	0.25552	0.486836	0.017093	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262;ENST00000549781	T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93	4.14	4.14	0.48551	Peptidase M14, carboxypeptidase A (1);	0.172860	0.48767	N	0.000166	T	0.00012	0.0000	N	0.02142	-0.665	0.53005	P	3.900000000001125E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.11616	-1.0580	8	.	.	.	-11.6919	7.6907	0.28567	0.0:0.1:0.0:0.9	rs7978197;rs52829589;rs59228977;rs7978197	24	P14384	CBPM_HUMAN	H	24	ENSP00000448517:R24H;ENSP00000339157:R24H;ENSP00000447255:R24H;ENSP00000446799:R24H;ENSP00000449911:R24H;ENSP00000448078:R24H	.	R	-	2	0	CPM	67612814	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.963000	0.49184	0.736000	0.32559	-0.360000	0.07572	CGC	C|0.819;T|0.181	0.181	strong		0.473	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		T	69326547	C	T	69326547	3	4	22	1	0	0	0	0	1	0	0	0	3808	768	27	1	1292	1	CPM	12	69326547	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73832	69326547	64525348	6874	11982										
YEATS4	8089	hgsc.bcm.edu	37	chr12	69783937	69783937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttctttagttgcagagctTgaagtgaaaaccagagaaaa	9	5	1	4	rs315121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:69783937T>C	ENST00000247843.2	+	7	795	c.525T>C	c.(523-525)ctT>ctC	p.L175L	YEATS4_ENST00000548020.1_Silent_p.L121L	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	175	Interaction with MLLT10.|Interaction with TACC1.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TTGCAGAGCTTGAAGTGAAAA	0.318													T|||	246	0.0491214	0.1225	0.036	5008	,	,		18245	0.0		0.0457	False		,,,				2504	0.0133				p.L175L		Atlas-SNP	.											.	YEATS4	15	.	0			c.T525C						PASS	.	T		523,3859		30,463,1698	24	26	25		525	0.1	1	12	dbSNP_79	25	375,8211		6,363,3924	no	coding-synonymous	YEATS4	NM_006530.2		36,826,5622	CC,CT,TT		4.3676,11.9352,6.9247		175/228	69783937	898,12070	2191	4293	6484	SO:0001819	synonymous_variant	8089	exon7			AGAGCTTGAAGTG	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.525T>C	12.37:g.69783937T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	99	36	0.363636	NM_006530	Q9NQD0	Silent	SNP	ENST00000247843.2	37	CCDS8990.1																																																																																			T|0.931;G|0.001	.	strong		0.318	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		C	69783937	T	C	69783937	2	2	22	1	0	0	0	0	0	0	0	1	17470	1799	63	2		2	YEATS4	12	69783937	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	457390	69783937	64067958	6875	11983										
CCT2	10576	hgsc.bcm.edu	37	chr12	69986788	69986788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggtaagagttgactctacAgcaaaggttgcagaaataga	12	6	1	4	rs1043434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:69986788A>G	ENST00000299300.6	+	9	971	c.783A>G	c.(781-783)acA>acG	p.T261T	CCT2_ENST00000543146.2_Silent_p.T214T|CCT2_ENST00000544368.2_Silent_p.T261T	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	261					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACTCTACAGCAAAGGTTG	0.363													A|||	1086	0.216853	0.084	0.1888	5008	,	,		19934	0.3026		0.2565	False		,,,				2504	0.2873				p.T261T		Atlas-SNP	.											.	CCT2	49	.	0			c.A783G						PASS	.	A	,	459,3947	218.1+/-236.3	20,419,1764	81	82	82		642,783	4.6	1	12	dbSNP_86	82	1954,6646	345.9+/-325.9	204,1546,2550	no	coding-synonymous,coding-synonymous	CCT2	NM_001198842.1,NM_006431.2	,	224,1965,4314	GG,GA,AA		22.7209,10.4176,18.553	,	214/489,261/536	69986788	2413,10593	2203	4300	6503	SO:0001819	synonymous_variant	10576	exon9			CTCTACAGCAAAG	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.783A>G	12.37:g.69986788A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_006431	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	CCDS8991.1																																																																																			A|0.800;G|0.200	0.200	strong		0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		G	69986788	A	G	69986788	2	3	22	1	0	0	0	0	0	0	0	1	2953	175	7	3		3	CCT2	12	69986788	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	202851	69986788	63865107	6876	11984										
PTPRB	5787	hgsc.bcm.edu	37	chr12	70928616	70928616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcaagctaacatacaccGcatatcttaaactcccggat	5	13	1	0	rs3752703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:70928616G>A	ENST00000261266.5	-	28	5576	c.5547C>T	c.(5545-5547)tgC>tgT	p.C1849C	PTPRB_ENST00000550857.1_Silent_p.C1759C|PTPRB_ENST00000538708.1_Silent_p.C1759C|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Silent_p.C2067C|PTPRB_ENST00000451516.2_Silent_p.C1759C|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Silent_p.C1979C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1849	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACATACACCGCATATCTTAA	0.527													G|||	1961	0.391573	0.4539	0.3357	5008	,	,		19377	0.5278		0.3062	False		,,,				2504	0.2945				p.C2067C		Atlas-SNP	.											PTPRB_ENST00000334414,colon,carcinoma,0,3	PTPRB	676	3	0			c.C6201T						PASS	.	G	,,,	1625,2281		339,947,667	64	63	63		6201,5277,5277,5547	5.5	1	12	dbSNP_107	63	2611,5703		423,1765,1969	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	,,,	762,2712,2636	AA,AG,GG		31.4049,41.6027,34.6645	,,,	2067/2216,1759/1908,1759/1908,1849/1998	70928616	4236,7984	1953	4157	6110	SO:0001819	synonymous_variant	5787	exon30			TACACCGCATATC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5547C>T	12.37:g.70928616G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	75	28	0.373333	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																			G|0.613;A|0.387	0.387	strong		0.527	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			A	70928616	G	A	70928616	2	1	22	1	0	0	0	0	0	0	0	1	12796	1079	38	1		1	PTPRB	12	70928616	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	941828	70928616	62923279	6877	11985										
TSPAN8	7103	hgsc.bcm.edu	37	chr12	71523134	71523134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataactgccagtccaaatgAtattccaataactataatca	3	9	1	1	rs1051334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:71523134A>C	ENST00000393330.2	-	11	1189	c.637T>G	c.(637-639)Tca>Gca	p.S213A	TSPAN8_ENST00000247829.3_Missense_Mutation_p.S213A|TSPAN8_ENST00000546561.1_Missense_Mutation_p.S213A|TSPAN8_ENST00000552128.1_Missense_Mutation_p.S130A			P19075	TSN8_HUMAN	tetraspanin 8	213			S -> A (in dbSNP:rs1051334).		negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGTCCAAATGATATTCCAATA	0.279													C|||	1256	0.250799	0.1203	0.2291	5008	,	,		15575	0.2877		0.3986	False		,,,				2504	0.2526				p.S213A		Atlas-SNP	.											.	TSPAN8	30	.	0			c.T637G						PASS	.	C	ALA/SER	832,3562	728.1+/-409.9	78,676,1443	52	54	53		637	4.9	1	12	dbSNP_86	53	3526,5070	622.4+/-397.3	732,2062,1504	yes	missense	TSPAN8	NM_004616.2	99	810,2738,2947	CC,CA,AA		41.0191,18.9349,33.5489	benign	213/238	71523134	4358,8632	2197	4298	6495	SO:0001583	missense	7103	exon8			CAAATGATATTCC	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.637T>G	12.37:g.71523134A>C	ENSP00000377003:p.Ser213Ala	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	154	76	0.493506	NM_004616	B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	CCDS8999.1	623	0.28525641025641024	55	0.11178861788617886	94	0.2596685082872928	179	0.3129370629370629	295	0.3891820580474934	C	4.019	0.001031	0.07819	0.189349	0.410191	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.77	4.88	0.63580	.	0.103092	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00013	-2.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	9	0.02654	T	1	.	12.0304	0.53394	0.315:0.685:0.0:0.0	rs1051334;rs3168483;rs17413936;rs17845049;rs17857828;rs61360808;rs1051334	213	P19075	TSN8_HUMAN	A	213;213;213;130	ENSP00000377003:S213A;ENSP00000247829:S213A;ENSP00000447160:S213A;ENSP00000449820:S130A	ENSP00000247829:S213A	S	-	1	0	TSPAN8	69809401	0.994000	0.37717	0.992000	0.48379	0.964000	0.63967	1.278000	0.33179	0.895000	0.36342	-0.121000	0.15023	TCA	A|0.689;C|0.311	0.311	strong		0.279	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		C	71523134	A	C	71523134	3	2	22	1	0	0	0	0	1	0	0	0	16650	333	12	5	84	5	TSPAN8	12	71523134	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	594518	71523134	62328761	6878	11986										
TSPAN8	7103	hgsc.bcm.edu	37	chr12	71533534	71533534	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttatagcaccgcagcatCccaggaagcccagaatcatg	8	13	1	1	rs3763978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:71533534C>G	ENST00000393330.2	-	7	770	c.218G>C	c.(217-219)gGa>gCa	p.G73A	TSPAN8_ENST00000247829.3_Missense_Mutation_p.G73A|TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G73A|TSPAN8_ENST00000552128.1_5'Flank			P19075	TSN8_HUMAN	tetraspanin 8	73			G -> A (in dbSNP:rs3763978). {ECO:0000269|PubMed:15489334}.		negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ACCGCAGCATCCCAGGAAGCC	0.473													C|||	1137	0.227037	0.0378	0.2233	5008	,	,		18058	0.2847		0.3956	False		,,,				2504	0.2526				p.G73A		Atlas-SNP	.											TSPAN8,colon,carcinoma,0,1	TSPAN8	30	1	0			c.G218C						PASS	.	C	ALA/GLY	483,3923	224.9+/-240.9	27,429,1747	186	178	181		218	5.1	1	12	dbSNP_107	181	3526,5074	513.3+/-378.1	729,2068,1503	yes	missense	TSPAN8	NM_004616.2	60	756,2497,3250	GG,GC,CC		41.0,10.9623,30.8242	probably-damaging	73/238	71533534	4009,8997	2203	4300	6503	SO:0001583	missense	7103	exon4			CAGCATCCCAGGA	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.218G>C	12.37:g.71533534C>G	ENSP00000377003:p.Gly73Ala	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	123	58	0.471545	NM_004616	B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	CCDS8999.1	591	0.2706043956043956	28	0.056910569105691054	91	0.2513812154696133	177	0.3094405594405594	295	0.3891820580474934	C	19.74	3.884505	0.72410	0.109623	0.41	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	D;D;D	0.94793	-3.52;-3.52;-3.52	5.09	5.09	0.68999	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.94847	3.59	0.09310	P	1.0	D	0.76494	0.999	D	0.77004	0.989	T	0.00000	-1.6730	9	0.72032	D	0.01	.	16.3635	0.83296	0.0:1.0:0.0:0.0	rs3763978;rs17849951;rs52802585;rs3763978	73	P19075	TSN8_HUMAN	A	73	ENSP00000377003:G73A;ENSP00000247829:G73A;ENSP00000447160:G73A	ENSP00000247829:G73A	G	-	2	0	TSPAN8	69819801	0.999000	0.42202	1.000000	0.80357	0.509000	0.34042	4.362000	0.59467	2.525000	0.85131	0.655000	0.94253	GGA	C|0.707;G|0.293	0.293	strong		0.473	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		G	71533534	C	G	71533534	3	3	22	1	0	0	0	0	1	0	0	0	16650	855	30	4	519	4	TSPAN8	12	71533534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10400	71533534	62318361	6879	11987										
LGR5	8549	hgsc.bcm.edu	37	chr12	71977787	71977787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggagcgtgggttctctgTgaaatattctgcaaaatttg	11	7	2	1	rs17109924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:71977787T>C	ENST00000266674.5	+	18	2308	c.1997T>C	c.(1996-1998)gTg>gCg	p.V666A	LGR5_ENST00000540815.2_Missense_Mutation_p.V642A|LGR5_ENST00000536515.1_Missense_Mutation_p.V594A|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	666			V -> A (in dbSNP:rs17109924). {ECO:0000269|PubMed:15489334}.		G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGGTTCTCTGTGAAATATTCT	0.458													T|||	357	0.0712859	0.1172	0.0648	5008	,	,		22071	0.003		0.0606	False		,,,				2504	0.0951				p.V666A		Atlas-SNP	.											LGR5,bladder,carcinoma,-1,1	LGR5	103	1	0			c.T1997C						PASS	.	T	ALA/VAL	456,3950	218.1+/-236.3	25,406,1772	136	134	135		1997	4.7	1	12	dbSNP_123	135	657,7943	165.9+/-218.0	20,617,3663	yes	missense	LGR5	NM_003667.2	64	45,1023,5435	CC,CT,TT		7.6395,10.3495,8.5576	possibly-damaging	666/908	71977787	1113,11893	2203	4300	6503	SO:0001583	missense	8549	exon18			TCTCTGTGAAATA	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1997T>C	12.37:g.71977787T>C	ENSP00000266674:p.Val666Ala	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	179	177	0.988827	NM_003667	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	130	0.05952380952380952	56	0.11382113821138211	26	0.0718232044198895	1	0.0017482517482517483	47	0.06200527704485488	T	10.78	1.446347	0.25987	0.103495	0.076395	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.77620	-1.11;-1.11;-1.11	5.85	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.250903	0.28504	N	0.015110	T	0.03651	0.0104	L	0.45051	1.395	0.37532	D	0.917956	B;B	0.19331	0.028;0.035	B;B	0.26864	0.044;0.074	T	0.30119	-0.9989	10	0.18276	T	0.48	.	11.8686	0.52507	0.0:0.068:0.0:0.932	rs17109924;rs56488504;rs61507334;rs17109924	642;666	O75473-2;O75473	.;LGR5_HUMAN	A	666;666;594;642	ENSP00000266674:V666A;ENSP00000443033:V594A;ENSP00000441035:V642A	ENSP00000266674:V666A	V	+	2	0	LGR5	70264054	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.325000	0.52030	1.044000	0.40200	0.533000	0.62120	GTG	T|0.922;C|0.078	0.078	strong		0.458	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		C	71977787	T	C	71977787	3	2	22	1	0	0	0	0	1	0	0	0	8757	1696	59	2	2067	2	LGR5	12	71977787	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	444253	71977787	61874108	6880	11988										
ZFC3H1	196441	hgsc.bcm.edu	37	chr12	72008421	72008421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactaaatcagtaaaaaatTtgaattcttgaactttgttt	4	5	3	2	rs11541286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72008421T>C	ENST00000378743.3	-	30	5778	c.5420A>G	c.(5419-5421)aAa>aGa	p.K1807R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1807			K -> R (in dbSNP:rs11541286).		RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGTAAAAAATTTGAATTCTTG	0.333													T|||	207	0.0413339	0.0113	0.0562	5008	,	,		15627	0.003		0.0606	False		,,,				2504	0.091				p.K1807R		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.A5420G						PASS	.	T	ARG/LYS	73,3539		1,71,1734	111	112	112		5420	0	1	12	dbSNP_120	112	615,7523		17,581,3471	yes	missense	ZFC3H1	NM_144982.4	26	18,652,5205	CC,CT,TT		7.5571,2.021,5.8553	probably-damaging	1807/1990	72008421	688,11062	1806	4069	5875	SO:0001583	missense	196441	exon30			AAAAATTTGAATT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5420A>G	12.37:g.72008421T>C	ENSP00000368017:p.Lys1807Arg	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	21	0.381818	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	76	0.0347985347985348	3	0.006097560975609756	24	0.06629834254143646	1	0.0017482517482517483	48	0.0633245382585752	T	12.11	1.840561	0.32513	0.02021	0.075571	ENSG00000133858	ENST00000378743	T	0.34072	1.38	5.35	0.0229	0.14135	.	0.161807	0.53938	N	0.000047	T	0.00998	0.0033	L	0.27053	0.805	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.08310	-1.0728	10	0.48119	T	0.1	.	5.3631	0.16099	0.1189:0.2036:0.0:0.6775	rs11541286;rs52822945;rs59889096;rs11541286	1807	O60293	ZC3H1_HUMAN	R	1807	ENSP00000368017:K1807R	ENSP00000368017:K1807R	K	-	2	0	ZFC3H1	70294688	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	0.659000	0.24994	-0.238000	0.09724	0.455000	0.32223	AAA	T|0.956;C|0.044	0.044	strong		0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		C	72008421	T	C	72008421	3	2	22	1	0	0	0	0	1	0	0	0	17630	1841	64	2	573	2	ZFC3H1	12	72008421	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30634	72008421	61843474	6881	11989										
ZFC3H1	196441	hgsc.bcm.edu	37	chr12	72020103	72020103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacacatttcctgcacctcGtccttggttcctctttttga	5	14	2	1	rs56384440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72020103G>A	ENST00000378743.3	-	22	4612	c.4254C>T	c.(4252-4254)gaC>gaT	p.D1418D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1418					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTGCACCTCGTCCTTGGTTC	0.413													G|||	121	0.0241613	0.0862	0.0086	5008	,	,		17082	0.0		0.001	False		,,,				2504	0.0				p.D1418D		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.C4254T						PASS	.	G		253,3587		9,235,1676	185	176	179		4254	-7.2	0.5	12	dbSNP_129	179	3,8243		0,3,4120	no	coding-synonymous	ZFC3H1	NM_144982.4		9,238,5796	AA,AG,GG		0.0364,6.5885,2.1182		1418/1990	72020103	256,11830	1920	4123	6043	SO:0001819	synonymous_variant	196441	exon22			CACCTCGTCCTTG	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4254C>T	12.37:g.72020103G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	147	70	0.47619	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	CCDS41813.1																																																																																			A|0.013;G|0.987	0.013	strong		0.413	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72020103	G	A	72020103	2	1	22	1	0	0	0	0	0	0	0	1	17630	1136	40	1		1	ZFC3H1	12	72020103	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11682	72020103	61831792	6882	11990										
THAP2	83591	hgsc.bcm.edu	37	chr12	72070506	72070508	+	In_Frame_Del	DEL	GTT	GTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttttgaagaaaaacaacaGttgttctccagctggaccat					rs140783391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72070506_72070508delGTT	ENST00000308086.2	+	3	1806_1808	c.305_307delGTT	c.(304-309)agttgt>agt	p.C103del	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	103						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AAAAACAACAGTTGTTCTCCAGC	0.34														202	0.0403355	0.0113	0.0591	5008	,	,		19109	0.003		0.0507	False		,,,				2504	0.0941				p.102_102del		Pindel,Atlas-Indel	.											.	THAP2	29	.	0			c.304_306del						PASS	.			82,4182		2,78,2052						2	1		dbSNP_134	46	567,7685		14,539,3573	no	coding	THAP2	NM_031435.3		16,617,5625	A1A1,A1R,RR		6.8711,1.9231,5.1854				649,11867				SO:0001651	inframe_deletion	83591	exon3			.	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.305_307delGTT	12.37:g.72070509_72070511delGTT	ENSP00000310796:p.Cys103del	Somatic	95	.	.		WXS	Illumina HiSeq	Phase_I	118	46	0.39	NM_031435	B2R8P3	In_Frame_Del	DEL	ENST00000308086.2	37	CCDS9001.1																																																																																			GTT|0.969;-|0.031	0.031	strong		0.34	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		-	72070508	GTT	-	72070506	7	5	22	1	0	1	0	1	0	0	0	0	15841	1029	36	0	315	0	THAP2	12	72070506	In_Frame_Del	DEL	GTT	TCGA-G8-6324-01A-11D-2210-10	50403	72070506	61781389	6883	11991										
TMEM19	55266	hgsc.bcm.edu	37	chr12	72094627	72094627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagggttggatgaaagcaCtggcatggtggtcaacagcc	14	9	1	1	rs74104122	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72094627C>G	ENST00000266673.5	+	6	1457	c.863C>G	c.(862-864)aCt>aGt	p.T288S		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	288						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GATGAAAGCACTGGCATGGTG	0.358													C|||	126	0.0251597	0.09	0.0086	5008	,	,		17302	0.0		0.001	False		,,,				2504	0.0				p.T288S		Atlas-SNP	.											.	TMEM19	35	.	0			c.C863G						PASS	.	C	SER/THR	319,4087	170.9+/-201.2	13,293,1897	195	174	181		863	5	1	12	dbSNP_130	181	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TMEM19	NM_018279.3	58	13,296,6194	GG,GC,CC		0.0349,7.2401,2.4758	possibly-damaging	288/337	72094627	322,12684	2203	4300	6503	SO:0001583	missense	55266	exon6			AAAGCACTGGCAT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.863C>G	12.37:g.72094627C>G	ENSP00000266673:p.Thr288Ser	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	188	95	0.505319	NM_018279	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	CCDS9002.1	45|45	0.020604395604395604|0.020604395604395604	43|43	0.08739837398373984|0.08739837398373984	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.59|10.59	1.393752|1.393752	0.25205|0.25205	0.072401|0.072401	3.49E-4|3.49E-4	ENSG00000139291|ENSG00000139291	ENST00000550787|ENST00000266673;ENST00000546795	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	.|0.100553	.|0.64402	.|N	.|0.000002	T|T	0.02649|0.02649	0.0080|0.0080	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P	.|0.51537	.|0.946	.|P	.|0.48952	.|0.596	T|T	0.04165|0.04165	-1.0972|-1.0972	5|9	.|0.08837	.|T	.|0.75	-22.104|-22.104	12.1152|12.1152	0.53861|0.53861	0.0:0.8121:0.1216:0.0663|0.0:0.8121:0.1216:0.0663	.|.	.|288	.|Q96HH6	.|TMM19_HUMAN	Q|S	103|288;132	.|.	.|ENSP00000266673:T288S	H|T	+|+	3|2	2|0	TMEM19|TMEM19	70380894|70380894	0.990000|0.990000	0.36364|0.36364	0.993000|0.993000	0.49108|0.49108	0.973000|0.973000	0.67179|0.67179	1.858000|1.858000	0.39408|0.39408	1.463000|1.463000	0.47967|0.47967	0.655000|0.655000	0.94253|0.94253	CAC|ACT	C|0.976;G|0.024	0.024	strong		0.358	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		G	72094627	C	G	72094627	3	3	22	1	0	0	0	0	1	0	0	0	16110	565	20	4	885	4	TMEM19	12	72094627	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24121	72094627	61757268	6884	11992										
TBC1D15	64786	hgsc.bcm.edu	37	chr12	72307616	72307616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttttaggatatgttcaAggaatgagtgatttactttc	8	4	2	2	rs3759171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72307616A>G	ENST00000550746.1	+	13	1426	c.1362A>G	c.(1360-1362)caA>caG	p.Q454Q	TBC1D15_ENST00000485960.2_Silent_p.Q437Q|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Silent_p.Q445Q|TBC1D15_ENST00000393309.3_Silent_p.Q208Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	454	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATATGTTCAAGGAATGAGTG	0.358													G|||	3334	0.665735	0.9349	0.5634	5008	,	,		16358	0.8819		0.2674	False		,,,				2504	0.5613				p.Q454Q		Atlas-SNP	.											.	TBC1D15	99	.	0			c.A1362G						PASS	.	G	,,	3753,653	262.5+/-264.9	1611,531,61	111	117	115		1311,1335,1362	1.8	1	12	dbSNP_107	115	2365,6235	680.3+/-403.6	345,1675,2280	yes	coding-synonymous,coding-synonymous,coding-synonymous	TBC1D15	NM_001146213.1,NM_001146214.1,NM_022771.4	,,	1956,2206,2341	GG,GA,AA		27.5,14.8207,47.0398	,,	437/675,445/683,454/692	72307616	6118,6888	2203	4300	6503	SO:0001819	synonymous_variant	64786	exon13			TGTTCAAGGAATG	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1362A>G	12.37:g.72307616A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	50	48	0.96	NM_022771	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	CCDS31858.1																																																																																			A|0.446;G|0.554	0.554	strong		0.358	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72307616	A	G	72307616	2	3	22	1	0	0	0	0	0	0	0	1	15601	69	3	3		3	TBC1D15	12	72307616	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	212989	72307616	61544279	6885	11993										
TBC1D15	64786	hgsc.bcm.edu	37	chr12	72307637	72307637	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatgagtgatttactttcCcctcttttatatgtgatgga	9	6	1	3	rs11178983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72307637C>G	ENST00000550746.1	+	13	1447	c.1383C>G	c.(1381-1383)tcC>tcG	p.S461S	TBC1D15_ENST00000485960.2_Silent_p.S444S|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Silent_p.S452S|TBC1D15_ENST00000393309.3_Silent_p.S215S	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	461	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATTTACTTTCCCCTCTTTTAT	0.353													C|||	315	0.0628994	0.003	0.0346	5008	,	,		16596	0.0734		0.0606	False		,,,				2504	0.1554				p.S461S		Atlas-SNP	.											.	TBC1D15	99	.	0			c.C1383G						PASS	.	C	,,	81,4325	67.6+/-105.2	0,81,2122	131	136	134		1332,1356,1383	-6.5	0.6	12	dbSNP_120	134	661,7939	166.5+/-218.5	26,609,3665	no	coding-synonymous,coding-synonymous,coding-synonymous	TBC1D15	NM_001146213.1,NM_001146214.1,NM_022771.4	,,	26,690,5787	GG,GC,CC		7.686,1.8384,5.7051	,,	444/675,452/683,461/692	72307637	742,12264	2203	4300	6503	SO:0001819	synonymous_variant	64786	exon13			ACTTTCCCCTCTT	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1383C>G	12.37:g.72307637C>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_022771	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	CCDS31858.1																																																																																			C|0.947;G|0.053	0.053	strong		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72307637	C	G	72307637	2	3	22	1	0	0	0	0	0	0	0	1	15601	610	22	4		4	TBC1D15	12	72307637	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21	72307637	61544258	6886	11994										
TPH2	121278	hgsc.bcm.edu	37	chr12	72372862	72372862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatcccctctacaccccAgaaccgtgagtacctacatt	5	16	2	3	rs7305115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:72372862A>G	ENST00000333850.3	+	7	1077	c.936A>G	c.(934-936)ccA>ccG	p.P312P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	312					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCTACACCCCAGAACCGTGAG	0.512													G|||	2713	0.541733	0.6044	0.4856	5008	,	,		17921	0.4494		0.5825	False		,,,				2504	0.5501				p.P312P		Atlas-SNP	.											TPH2,colon,carcinoma,+1,1	TPH2	81	1	0			c.A936G	GRCh37	CM077900	TPH2	M	rs7305115	PASS	.	G		2591,1815	531.5+/-373.2	766,1059,378	126	126	126		936	-10.5	0.1	12	dbSNP_116	126	4977,3623	522.3+/-380.1	1439,2099,762	no	coding-synonymous	TPH2	NM_173353.3		2205,3158,1140	GG,GA,AA		42.1279,41.1938,41.8115		312/491	72372862	7568,5438	2203	4300	6503	SO:0001819	synonymous_variant	121278	exon7			CACCCCAGAACCG	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.936A>G	12.37:g.72372862A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_173353	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	CCDS31859.1																																																																																			A|0.439;G|0.561	0.561	strong		0.512	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72372862	A	G	72372862	2	3	22	1	0	0	0	0	0	0	0	1	16399	175	7	3		3	TPH2	12	72372862	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	65225	72372862	61479033	6887	11995										
NAV3	89795	hgsc.bcm.edu	37	chr12	78598891	78598891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacctcaaagcacattccGcaaactgacacagaaggaga	7	12	1	3	rs9971904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:78598891G>A	ENST00000397909.2	+	39	7184	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	NAV3_ENST00000536525.2_Silent_p.P2315P|NAV3_ENST00000266692.7_Silent_p.P2138P|NAV3_ENST00000228327.6_Silent_p.P2315P|NAV3_ENST00000541270.1_Silent_p.P167P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2337						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCACATTCCGCAAACTGACA	0.433										HNSCC(70;0.22)			G|||	3184	0.635783	0.6392	0.585	5008	,	,		16118	0.8006		0.4334	False		,,,				2504	0.7055				p.P2315P		Atlas-SNP	.											.	NAV3	506	.	0			c.G6945A						PASS	.	G		2348,1670		703,942,364	78	86	84		6945	-4.6	0.4	12	dbSNP_119	84	3316,5056		639,2038,1509	no	coding-synonymous	NAV3	NM_014903.4		1342,2980,1873	AA,AG,GG		39.6082,41.563,45.7143		2315/2364	78598891	5664,6726	2009	4186	6195	SO:0001819	synonymous_variant	89795	exon38			CATTCCGCAAACT	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7011G>A	12.37:g.78598891G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	77	77	1	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		1321	0.6048534798534798	312	0.6341463414634146	204	0.56353591160221	478	0.8356643356643356	327	0.4313984168865435	G	0.018	-1.483281	0.01027	0.58437	0.396082	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.3	-4.56	0.03431	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22626	-1.0211	3	.	.	.	-4.5325	3.6867	0.08331	0.4497:0.3009:0.0606:0.1888	rs9971904;rs56442146;rs58843251;rs9971904	.	.	.	T	1210;205	.	.	A	+	1	0	NAV3	77123022	0.831000	0.29352	0.381000	0.26106	0.000000	0.00434	0.050000	0.14120	-1.079000	0.03113	-4.833000	0.00003	GCA	G|0.427;A|0.573	0.573	strong		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78598891	G	A	78598891	2	1	22	1	0	0	0	0	0	0	0	1	10185	1074	38	1		1	NAV3	12	78598891	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6226029	78598891	55253004	6888	11996										
C12orf64	283310	hgsc.bcm.edu	37	chr12	80747209	80747209	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacacttcctgtttgaatCtaagagaagactgtgtgtgc	10	8	1	3	rs7312569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:80747209C>G	ENST00000547103.1	+	45	5455	c.5449C>G	c.(5449-5451)Cta>Gta	p.L1817V	OTOGL_ENST00000458043.2_Missense_Mutation_p.L1829V|OTOGL_ENST00000546620.1_5'Flank			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1817					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTTTGAATCTAAGAGAAGA	0.458													C|||	868	0.173323	0.1846	0.2075	5008	,	,		16401	0.0575		0.1819	False		,,,				2504	0.2444				p.L1829V		Atlas-SNP	.											.	OTOGL	235	.	0			c.C5485G						PASS	.	C	VAL/LEU	688,3198		61,566,1316	72	69	70		5485	0.4	0.1	12	dbSNP_116	70	1621,6675		159,1303,2686	yes	missense	OTOGL	NM_173591.3	32	220,1869,4002	GG,GC,CC		19.5395,17.7046,18.9542		1829/2345	80747209	2309,9873	1943	4148	6091	SO:0001583	missense	283310	exon45			TTGAATCTAAGAG	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5449C>G	12.37:g.80747209C>G	ENSP00000447211:p.Leu1817Val	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	109	42	0.385321	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		327|327	0.14972527472527472|0.14972527472527472	86|86	0.17479674796747968|0.17479674796747968	75|75	0.20718232044198895|0.20718232044198895	30|30	0.05244755244755245|0.05244755244755245	136|136	0.17941952506596306|0.17941952506596306	C|C	5.903|5.903	0.350723|0.350723	0.11182|0.11182	0.177046|0.177046	0.195395|0.195395	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.55052	.|0.54;0.54	5.74|5.74	0.452|0.452	0.16634|0.16634	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	L|L	0.45285|0.45285	1.41|1.41	0.54753|0.54753	P|P	1.799999999996249E-5|1.799999999996249E-5	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.10847|0.10847	-1.0612|-1.0612	4|6	.|0.31617	.|T	.|0.26	.|.	3.0832|3.0832	0.06269|0.06269	0.1146:0.1279:0.1196:0.6379|0.1146:0.1279:0.1196:0.6379	rs7312569;rs17249560;rs7312569|rs7312569;rs17249560;rs7312569	.|.	.|.	.|.	M|V	271|1817;1829	.|ENSP00000447211:L1817V;ENSP00000400895:L1829V	.|ENSP00000400895:L1829V	I|L	+|+	3|1	3|2	OTOGL|OTOGL	79271340|79271340	0.049000|0.049000	0.20398|0.20398	0.071000|0.071000	0.20095|0.20095	0.298000|0.298000	0.27526|0.27526	0.246000|0.246000	0.18160|0.18160	-0.156000|-0.156000	0.11079|0.11079	-0.294000|-0.294000	0.09567|0.09567	ATC|CTA	C|0.844;G|0.156	0.156	strong		0.458	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		G	80747209	C	G	80747209	3	3	22	1	0	0	0	0	1	0	0	0	1707	912	32	4	5663	4	C12orf64	12	80747209	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2148318	80747209	53104686	6889	11997										
C12orf64	283310	hgsc.bcm.edu	37	chr12	80750659	80750659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaattcatgattcaagttcGacaggaagaaccttgttgtt	8	7	3	2	rs11836060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:80750659G>A	ENST00000547103.1	+	48	5927	c.5921G>A	c.(5920-5922)cGa>cAa	p.R1974Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.R1986Q|OTOGL_ENST00000546620.1_Missense_Mutation_p.R5Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1974	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTCAAGTTCGACAGGAAGAA	0.348													A|||	859	0.171526	0.1838	0.2075	5008	,	,		13699	0.0506		0.1819	False		,,,				2504	0.2434				p.R1986Q		Atlas-SNP	.											.	OTOGL	235	.	0			c.G5957A						PASS	.	A	GLN/ARG	823,3583	747.6+/-411.9	74,675,1454	110	98	102		5957	4.1	1	12	dbSNP_120	102	1690,6910	738.1+/-407.0	170,1350,2780	yes	missense	OTOGL	NM_173591.3	43	244,2025,4234	AA,AG,GG		19.6512,18.6791,19.3219	benign	1986/2345	80750659	2513,10493	2203	4300	6503	SO:0001583	missense	283310	exon48			AAGTTCGACAGGA	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5921G>A	12.37:g.80750659G>A	ENSP00000447211:p.Arg1974Gln	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	183	104	0.568306	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		324|324	0.14835164835164835|0.14835164835164835	86|86	0.17479674796747968|0.17479674796747968	75|75	0.20718232044198895|0.20718232044198895	27|27	0.0472027972027972|0.0472027972027972	136|136	0.17941952506596306|0.17941952506596306	A|A	13.96|13.96	2.393127|2.393127	0.42410|0.42410	0.186791|0.186791	0.196512|0.196512	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182	.|T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61	5.36|5.36	4.06|4.06	0.47325|0.47325	.|.	.|0.264710	.|0.30244	.|N	.|0.010074	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.13168|0.13168	0.305|0.305	0.48830|0.48830	P|P	2.9000000000001247E-4|2.9000000000001247E-4	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.37641|0.37641	-0.9697|-0.9697	4|9	.|0.15952	.|T	.|0.53	.|.	7.6258|7.6258	0.28212|0.28212	0.7196:0.0:0.2804:0.0|0.7196:0.0:0.2804:0.0	rs11836060;rs17309026;rs52804264;rs60470781;rs11836060|rs11836060;rs17309026;rs52804264;rs60470781;rs11836060	.|351	.|Q3ZCN5	.|OTOGL_HUMAN	N|Q	429|1974;1986;5;3	.|ENSP00000447211:R1974Q;ENSP00000400895:R1986Q;ENSP00000449094:R5Q;ENSP00000449641:R3Q	.|ENSP00000400895:R1986Q	D|R	+|+	1|2	0|0	OTOGL|OTOGL	79274790|79274790	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.988000|0.988000	0.76386|0.76386	3.251000|3.251000	0.51453|0.51453	0.253000|0.253000	0.21552|0.21552	-0.381000|-0.381000	0.06696|0.06696	GAC|CGA	G|0.823;A|0.177	0.177	strong		0.348	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80750659	G	A	80750659	3	1	22	1	0	0	0	0	1	0	0	0	1707	1058	37	1	6147	1	C12orf64	12	80750659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3450	80750659	53101236	6890	11998										
C12orf64	283310	hgsc.bcm.edu	37	chr12	80761411	80761411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatccatgataaagtatttGgaagaagacttttgttatgc	8	5	0	3	rs11114416	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:80761411G>T	ENST00000547103.1	+	53	6345	c.6339G>T	c.(6337-6339)ttG>ttT	p.L2113F	OTOGL_ENST00000546620.1_Missense_Mutation_p.L144F|OTOGL_ENST00000458043.2_Missense_Mutation_p.L2125F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2113					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAAAGTATTTGGAAGAAGACT	0.323													G|||	851	0.169928	0.1846	0.2075	5008	,	,		14825	0.0417		0.1819	False		,,,				2504	0.2434				p.L2125F		Atlas-SNP	.											C12orf64,NS,carcinoma,-1,1	OTOGL	235	1	0			c.G6375T						scavenged	.	G	PHE/LEU	807,3593		72,663,1465	68	65	66		6375	2.7	1	12	dbSNP_120	66	1648,6936		165,1318,2809	yes	missense	OTOGL	NM_173591.3	22	237,1981,4274	TT,TG,GG		19.1985,18.3409,18.9079	benign	2125/2345	80761411	2455,10529	2200	4292	6492	SO:0001583	missense	283310	exon53			GTATTTGGAAGAA	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6339G>T	12.37:g.80761411G>T	ENSP00000447211:p.Leu2113Phe	Somatic	99	1	0.010101		WXS	Illumina HiSeq	Phase_I	102	42	0.411765	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		323|323	0.1478937728937729|0.1478937728937729	86|86	0.17479674796747968|0.17479674796747968	75|75	0.20718232044198895|0.20718232044198895	26|26	0.045454545454545456|0.045454545454545456	136|136	0.17941952506596306|0.17941952506596306	G|G	7.587|7.587	0.670053|0.670053	0.14776|0.14776	0.183409|0.183409	0.191985|0.191985	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.45276|.	2.32;2.32;2.23;0.9|.	5.53|5.53	2.66|2.66	0.31614|0.31614	.|.	0.498844|.	0.17868|.	N|.	0.159272|.	T|T	0.00039|0.00039	0.0001|0.0001	L|L	0.41027|0.41027	1.25|1.25	0.38267|0.38267	P|P	0.057950999999999975|0.057950999999999975	B|.	0.13594|.	0.008|.	B|.	0.16722|.	0.016|.	T|T	0.08889|0.08889	-1.0700|-1.0700	9|4	0.10636|.	T|.	0.68|.	.|.	9.0285|9.0285	0.36245|0.36245	0.1297:0.0:0.7494:0.1209|0.1297:0.0:0.7494:0.1209	rs11114416;rs52818722;rs11114416|rs11114416;rs52818722;rs11114416	490|.	Q3ZCN5|.	OTOGL_HUMAN|.	F|L	2113;2125;144;142|533	ENSP00000447211:L2113F;ENSP00000400895:L2125F;ENSP00000449094:L144F;ENSP00000449641:L142F|.	ENSP00000400895:L2125F|.	L|W	+|+	3|2	2|0	OTOGL|OTOGL	79285542|79285542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.341000|0.341000	0.28922|0.28922	1.200000|1.200000	0.32247|0.32247	0.354000|0.354000	0.24105|0.24105	-0.198000|-0.198000	0.12761|0.12761	TTG|TGG	G|0.827;T|0.173	0.173	strong		0.323	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80761411	G	T	80761411	3	4	22	1	0	0	0	0	1	0	0	0	1707	1339	47	4	6585	4	C12orf64	12	80761411	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10752	80761411	53090484	6891	11999										
PPFIA2	8499	hgsc.bcm.edu	37	chr12	81769581	81769581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagatactgaacctgccgCaggatagcttctttatttgc	9	10	1	2	rs10862301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:81769581C>T	ENST00000549396.1	-	10	1285	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	PPFIA2_ENST00000549325.1_Silent_p.L357L|PPFIA2_ENST00000443686.3_Silent_p.L276L|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Silent_p.L222L|PPFIA2_ENST00000552948.1_Silent_p.L375L|PPFIA2_ENST00000407050.4_Silent_p.L301L|PPFIA2_ENST00000548586.1_Silent_p.L375L|PPFIA2_ENST00000333447.7_Silent_p.L357L|PPFIA2_ENST00000550584.2_Silent_p.L375L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	375	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAACCTGCCGCAGGATAGCTT	0.403													T|||	2232	0.445687	0.5673	0.402	5008	,	,		16197	0.5387		0.2724	False		,,,				2504	0.3947				p.L375L		Atlas-SNP	.											.	PPFIA2	207	.	0			c.G1125A						PASS	.	T	,,,,,,	1778,2016		402,974,521	150	147	148		1125,1071,1125,1125,903,828,1125	-5.7	0.8	12	dbSNP_120	148	2059,6149		257,1545,2302	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_003625.3	,,,,,,	659,2519,2823	TT,TC,CC		25.0853,46.8635,31.9697	,,,,,,	375/1248,357/1233,375/1237,375/1252,301/1157,276/1153,375/1258	81769581	3837,8165	1897	4104	6001	SO:0001819	synonymous_variant	8499	exon9			CTGCCGCAGGATA	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1125G>A	12.37:g.81769581C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1	955	0.43727106227106227	287	0.5833333333333334	138	0.3812154696132597	323	0.5646853146853147	207	0.27308707124010556	T	6.490	0.458611	0.12342	0.468635	0.250853	ENSG00000139220	ENST00000548790	.	.	.	5.45	-5.72	0.02406	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999899829	.	.	.	.	.	.	T	0.44817	-0.9303	3	.	.	.	-3.6027	3.7466	0.08551	0.0904:0.3488:0.2767:0.2841	rs10862301;rs52801936;rs57160712;rs10862301	.	.	.	Y	193	.	.	C	-	2	0	PPFIA2	80293712	0.378000	0.25114	0.806000	0.32338	0.739000	0.42172	-0.501000	0.06398	-1.195000	0.02680	-1.811000	0.00612	TGC	C|0.573;N|0.000	.	strong		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			T	81769581	C	T	81769581	2	4	22	1	0	0	0	0	0	0	0	1	12310	697	25	2		2	PPFIA2	12	81769581	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1008170	81769581	52082314	6892	12000										
LRRIQ1	84125	hgsc.bcm.edu	37	chr12	85432040	85432040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccttggaaaaagaagacaTtgagagtgatgcaaaatcag	10	6	1	4	rs7312075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:85432040T>A	ENST00000393217.2	+	2	147	c.86T>A	c.(85-87)aTt>aAt	p.I29N	TSPAN19_ENST00000547403.2_5'Flank|TSPAN19_ENST00000532498.2_5'Flank	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	29			I -> N (in dbSNP:rs7312075). {ECO:0000269|PubMed:14702039}.					p.I29N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAGAAGACATTGAGAGTGAT	0.368													T|||	596	0.11901	0.0129	0.1916	5008	,	,		11658	0.2202		0.0934	False		,,,				2504	0.1329				p.I29N		Atlas-SNP	.											LRRIQ1,NS,carcinoma,0,1	LRRIQ1	512	1	1	Substitution - Missense(1)	stomach(1)	c.T86A						PASS	.	T	ASN/ILE	114,4292	85.8+/-124.5	1,112,2090	119	116	117		86	-1.4	0.1	12	dbSNP_116	117	757,7843	180.5+/-229.4	30,697,3573	yes	missense	LRRIQ1	NM_001079910.1	149	31,809,5663	AA,AT,TT		8.8023,2.5874,6.6969	possibly-damaging	29/1723	85432040	871,12135	2203	4300	6503	SO:0001583	missense	84125	exon2			AAGACATTGAGAG	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.86T>A	12.37:g.85432040T>A	ENSP00000376910:p.Ile29Asn	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	115	41	0.356522	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	270	0.12362637362637363	9	0.018292682926829267	61	0.1685082872928177	127	0.22202797202797203	73	0.09630606860158311	T	3.997	-0.003389	0.07773	0.025874	0.088023	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.53640	0.93;0.61	4.27	-1.37	0.09056	.	0.827624	0.10075	N	0.719238	T	0.00012	0.0000	L	0.29908	0.895	0.58432	P	2.9999999999752447E-6	B;B	0.31519	0.244;0.327	B;B	0.26969	0.075;0.05	T	0.18023	-1.0350	9	0.72032	D	0.01	.	0.8095	0.01091	0.1699:0.3022:0.1754:0.3525	rs7312075;rs52803324;rs7312075	29;29	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	29	ENSP00000376906:I29N;ENSP00000376910:I29N	ENSP00000256007:I29N	I	+	2	0	LRRIQ1	83956171	0.001000	0.12720	0.121000	0.21740	0.065000	0.16274	-0.599000	0.05700	-0.029000	0.13827	-0.256000	0.11100	ATT	T|0.916;A|0.084	0.084	strong		0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		A	85432040	T	A	85432040	3	1	22	1	0	0	0	0	1	0	0	0	9029	1493	52	5	88	5	LRRIQ1	12	85432040	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3662459	85432040	48419855	6893	12001										
LRRIQ1	84125	hgsc.bcm.edu	37	chr12	85492658	85492658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatagcttccatccttggAgaatcttgttttactaagag	7	7	1	2	rs139758674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:85492658A>C	ENST00000393217.2	+	13	3156	c.3095A>C	c.(3094-3096)gAg>gCg	p.E1032A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1032										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCATCCTTGGAGAATCTTGTT	0.299													A|||	43	0.00858626	0.031	0.0029	5008	,	,		11103	0.0		0.0	False		,,,				2504	0.0				p.E1032A		Atlas-SNP	.											LRRIQ1_ENST00000393217,NS,carcinoma,-1,2	LRRIQ1	512	2	0			c.A3095C						scavenged	.	A	ALA/GLU	79,4325	69.8+/-107.6	1,77,2124	75	78	77		3095	0.4	0	12	dbSNP_134	77	2,8586	2.2+/-6.3	0,2,4292	yes	missense	LRRIQ1	NM_001079910.1	107	1,79,6416	CC,CA,AA		0.0233,1.7938,0.6235	benign	1032/1723	85492658	81,12911	2202	4294	6496	SO:0001583	missense	84125	exon13			CCTTGGAGAATCT	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3095A>C	12.37:g.85492658A>C	ENSP00000376910:p.Glu1032Ala	Somatic	92	1	0.0108696		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	A	6.385	0.439095	0.12104	0.017938	2.33E-4	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.23348	1.91	5.18	0.447	0.16608	.	1.889910	0.03114	N	0.162924	T	0.08537	0.0212	N	0.20574	0.59	0.09310	N	1	B;B	0.25667	0.063;0.131	B;B	0.22386	0.039;0.039	T	0.21211	-1.0252	10	0.56958	D	0.05	.	4.26	0.10737	0.6323:0.0:0.2269:0.1408	.	1032;1007	Q96JM4;C9JI57	LRIQ1_HUMAN;.	A	1032;1007;1032	ENSP00000376910:E1032A	ENSP00000256007:E1032A	E	+	2	0	LRRIQ1	84016789	0.569000	0.26643	0.003000	0.11579	0.778000	0.44026	1.102000	0.31050	-0.162000	0.10964	0.477000	0.44152	GAG	A|0.995;C|0.005	0.005	strong		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85492658	A	C	85492658	3	2	22	1	0	0	0	0	1	0	0	0	9029	304	11	5	3141	5	LRRIQ1	12	85492658	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60618	85492658	48359237	6894	12002										
C12orf50	160419	hgsc.bcm.edu	37	chr12	88380094	88380094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatagacaccttacctctcTgcattccagagttaggaaag	7	10	1	2	rs10777084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:88380094T>C	ENST00000298699.2	-	10	1097	c.917A>G	c.(916-918)cAg>cGg	p.Q306R	C12orf50_ENST00000550553.1_Missense_Mutation_p.Q267R	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	306			Q -> R (in dbSNP:rs10777084).							NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTTACCTCTCTGCATTCCAGA	0.313													T|||	1518	0.303115	0.8147	0.1383	5008	,	,		15823	0.0565		0.0994	False		,,,				2504	0.1922				p.Q306R		Atlas-SNP	.											.	C12orf50	70	.	0			c.A917G						PASS	.	T	ARG/GLN	3042,1364	688.1+/-404.9	1048,946,209	94	95	95		917	-0.2	0	12	dbSNP_120	95	1006,7592	214.9+/-254.4	63,880,3356	yes	missense	C12orf50	NM_152589.1	43	1111,1826,3565	CC,CT,TT		11.7004,30.9578,31.1289	benign	306/415	88380094	4048,8956	2203	4299	6502	SO:0001583	missense	160419	exon10			CCTCTCTGCATTC	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.917A>G	12.37:g.88380094T>C	ENSP00000298699:p.Gln306Arg	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_152589	Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	524	0.23992673992673993	384	0.7804878048780488	47	0.1298342541436464	25	0.043706293706293704	68	0.08970976253298153	T	0.001	-3.085134	0.00035	0.690422	0.117004	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.27720	1.65;1.65	6.01	-0.245	0.13027	.	0.522728	0.18993	N	0.125548	T	0.00012	0.0000	N	0.01668	-0.77	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25117	-1.0141	9	0.07813	T	0.8	.	6.5806	0.22591	0.0:0.4556:0.116:0.4284	rs10777084;rs52816943;rs59302935;rs10777084	321;306	G3V208;Q8NA57	.;CL050_HUMAN	R	306;267;321	ENSP00000298699:Q306R;ENSP00000448344:Q267R	ENSP00000298699:Q306R	Q	-	2	0	C12orf50	86904225	0.000000	0.05858	0.022000	0.16811	0.001000	0.01503	-0.089000	0.11180	-0.326000	0.08564	-1.748000	0.00681	CAG	T|0.704;C|0.296	0.296	strong		0.313	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		C	88380094	T	C	88380094	3	2	22	1	0	0	0	0	1	0	0	0	1695	1580	55	3	343	3	C12orf50	12	88380094	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2887436	88380094	45471801	6895	12003										
KITLG	4254	hgsc.bcm.edu	37	chr12	88912624	88912624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaattgtactaccatctcGcttatccaacaatgacttgg	6	11	1	1	rs17015782	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:88912624G>A	ENST00000228280.5	-	4	395	c.213C>T	c.(211-213)agC>agT	p.S71S	KITLG_ENST00000347404.5_Silent_p.S71S|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	71					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTACCATCTCGCTTATCCAAC	0.353									Testicular Cancer, Familial Clustering of				G|||	52	0.0103834	0.0378	0.0029	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0				p.S71S		Atlas-SNP	.											.	KITLG	26	.	0			c.C213T						PASS	.	G	,	154,4252	106.0+/-144.5	2,150,2051	76	74	75		213,213	-10.1	0	12	dbSNP_123	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KITLG	NM_000899.4,NM_003994.5	,	2,150,6351	AA,AG,GG		0.0,3.4952,1.1841	,	71/274,71/246	88912624	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	4254	exon4	Familial Cancer Database		CATCTCGCTTATC	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.213C>T	12.37:g.88912624G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_003994	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Silent	SNP	ENST00000228280.5	37	CCDS31868.1																																																																																			G|0.988;A|0.012	0.012	strong		0.353	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		A	88912624	G	A	88912624	2	1	22	1	0	0	0	0	0	0	0	1	8330	1078	38	1		1	KITLG	12	88912624	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	532530	88912624	44939271	6896	12004										
GALNT4	8693	hgsc.bcm.edu	37	chr12	89916781	89916781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatctttgggacaattttGcattcccacataattttttt	4	10	1	0	rs139995124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:89916781G>T	ENST00000529983.2	-	1	1802	c.1546C>A	c.(1546-1548)Caa>Aaa	p.Q516K	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.Q513K|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Missense_Mutation_p.Q344K|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	516	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GGACAATTTTGCATTCCCACA	0.358													G|||	11	0.00219649	0.0023	0.0	5008	,	,		19748	0.0		0.007	False		,,,				2504	0.001				p.Q516K		Atlas-SNP	.											.	GALNT4	38	.	0			c.C1546A						PASS	.	G	,LYS/GLN,LYS/GLN,LYS/GLN,	5,3649		0,5,1822	71	67	68		,1537,1030,1546,	5	1	12	dbSNP_134	68	65,8115		0,65,4025	yes	intron,missense,missense,missense,intron	GALNT4,POC1B,POC1B-GALNT4	NM_001199777.1,NM_001199781.1,NM_001199782.1,NM_003774.4,NM_172240.2	,53,53,53,	0,70,5847	TT,TG,GG		0.7946,0.1368,0.5915	,benign,benign,benign,	,513/576,344/407,516/579,	89916781	70,11764	1827	4090	5917	SO:0001583	missense	8693	exon1			AATTTTGCATTCC	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1546C>A	12.37:g.89916781G>T	ENSP00000436604:p.Gln516Lys	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	84	46	0.547619	NM_003774	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	9	0.004120879120879121	3	0.006097560975609756	0	0.0	0	0.0	6	0.0079155672823219	G	11.35	1.612993	0.28712	0.001368	0.007946	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.29397	1.57;1.57;1.57	5.93	4.99	0.66335	Ricin B-related lectin (1);Ricin B lectin (3);	.	.	.	.	T	0.11623	0.0283	N	0.10645	0.015	0.39363	D	0.965958	B;B	0.06786	0.0;0.001	B;B	0.09377	0.003;0.004	T	0.08638	-1.0712	9	0.27785	T	0.31	.	12.0779	0.53655	0.0:0.0:0.7004:0.2996	.	513;516	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	K	513;344;516	ENSP00000447852:Q513K;ENSP00000389686:Q344K;ENSP00000436604:Q516K	ENSP00000436604:Q516K	Q	-	1	0	GALNT4;RP11-1109F11.4	88440912	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.469000	0.73555	2.814000	0.96858	0.591000	0.81541	CAA	G|0.996;T|0.004	0.004	strong		0.358	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89916781	G	T	89916781	3	4	22	1	0	0	0	0	1	0	0	0	6215	1328	46	4	194	4	GALNT4	12	89916781	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1004157	89916781	43935114	6897	12005										
KERA	11081	hgsc.bcm.edu	37	chr12	91449990	91449990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtacttcatagacctgcctCacacttctagaccacacagt	5	14	3	2	rs2735333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:91449990C>T	ENST00000266719.3	-	2	316	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	23					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGACCTGCCTCACACTTCTAG	0.423													C|||	3105	0.620008	0.2443	0.7046	5008	,	,		17837	0.7976		0.7962	False		,,,				2504	0.7035				p.V23V		Atlas-SNP	.											.	KERA	62	.	0			c.G69A						PASS	.	C		1534,2870	484.8+/-360.1	268,998,936	92	73	79		69	4.1	1	12	dbSNP_100	79	6699,1901	724.4+/-406.5	2613,1473,214	no	coding-synonymous	KERA	NM_007035.3		2881,2471,1150	TT,TC,CC		22.1047,34.832,36.6887		23/353	91449990	8233,4771	2202	4300	6502	SO:0001819	synonymous_variant	11081	exon2			CTGCCTCACACTT	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.69G>A	12.37:g.91449990C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	68	40	0.588235	NM_007035		Silent	SNP	ENST00000266719.3	37	CCDS9037.1																																																																																			C|0.364;T|0.636	0.636	strong		0.423	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		T	91449990	C	T	91449990	2	4	22	1	0	0	0	0	0	0	0	1	8143	813	29	2		2	KERA	12	91449990	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1533209	91449990	42401905	6898	12006										
PLEKHG7	440107	hgsc.bcm.edu	37	chr12	93147901	93147901	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaatgcagacggctccaCgtgccagagctgctagtggc					rs74784157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:93147901C>T	ENST00000344636.3	+	6	535	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	117	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GACGGCTCCACGTGCCAGAGC	0.512													C|||	274	0.0547125	0.0787	0.0836	5008	,	,		20165	0.0139		0.0586	False		,,,				2504	0.0399				p.H117H		Atlas-SNP	.											.	PLEKHG7	38	.	0			c.C351T						PASS	.	C		275,4131	155.5+/-188.7	11,253,1939	104	93	96		351	3.2	1	12	dbSNP_131	96	475,8125	140.0+/-196.6	9,457,3834	no	coding-synonymous	PLEKHG7	NM_001004330.2		20,710,5773	TT,TC,CC		5.5233,6.2415,5.7666		117/380	93147901	750,12256	2203	4300	6503	SO:0001819	synonymous_variant	440107	exon6			GCTCCACGTGCCA	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.351C>T	12.37:g.93147901C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	153	72	0.470588	NM_001004330	B2RNR7	Silent	SNP	ENST00000344636.3	37	CCDS31873.1																																																																																			C|0.947;T|0.053	0.053	strong		0.512	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		T	93147901	C	T	93147901	2	4	22	1	0	0	0	0	0	0	0	1	12075	535	19	1		1	PLEKHG7	12	93147901	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1697911	93147901	40703994	6899	12007	248	2								
PLEKHG7	440107	hgsc.bcm.edu	37	chr12	93147907	93147907	+	Silent	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagacggctccacgtgccAgagctgctagtggccccact					rs9669519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:93147907A>T	ENST00000344636.3	+	6	541	c.357A>T	c.(355-357)ccA>ccT	p.P119P		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	119	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TCCACGTGCCAGAGCTGCTAG	0.502													T|||	3269	0.652756	0.5847	0.7017	5008	,	,		20403	0.8919		0.4861	False		,,,				2504	0.635				p.P119P		Atlas-SNP	.											.	PLEKHG7	38	.	0			c.A357T						PASS	.	T		2457,1949	553.3+/-378.7	687,1083,433	104	93	97		357	0.1	1	12	dbSNP_119	97	4211,4389	582.8+/-391.5	1035,2141,1124	no	coding-synonymous	PLEKHG7	NM_001004330.2		1722,3224,1557	TT,TA,AA		48.9651,44.2351,48.7314		119/380	93147907	6668,6338	2203	4300	6503	SO:0001819	synonymous_variant	440107	exon6			CGTGCCAGAGCTG	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.357A>T	12.37:g.93147907A>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_001004330	B2RNR7	Silent	SNP	ENST00000344636.3	37	CCDS31873.1																																																																																			A|0.440;T|0.560	0.560	strong		0.502	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		T	93147907	A	T	93147907	2	4	22	1	0	0	0	0	0	0	0	1	12075	175	7	5		5	PLEKHG7	12	93147907	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	93147907	40703988	6900	12008	248	2								
PLEKHG7	440107	hgsc.bcm.edu	37	chr12	93150102	93150102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacatttttaaagaacacaTggcagaaaacatcttgtcac	5	9	2	2	rs924326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:93150102T>C	ENST00000344636.3	+	8	819	c.635T>C	c.(634-636)aTg>aCg	p.M212T		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	212			M -> T (in dbSNP:rs924326).				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAGAACACATGGCAGAAAAC	0.353													t|||	3243	0.647564	0.5628	0.7017	5008	,	,		22869	0.8919		0.4871	False		,,,				2504	0.637				p.M212T		Atlas-SNP	.											.	PLEKHG7	38	.	0			c.T635C						PASS	.	T	THR/MET	2374,2032	564.2+/-381.4	630,1114,459	86	87	86		635	1.1	1	12	dbSNP_86	86	4215,4385	582.5+/-391.4	1040,2135,1125	yes	missense	PLEKHG7	NM_001004330.2	81	1670,3249,1584	CC,CT,TT		49.0116,46.1189,49.3388	benign	212/380	93150102	6589,6417	2203	4300	6503	SO:0001583	missense	440107	exon8			AACACATGGCAGA	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.635T>C	12.37:g.93150102T>C	ENSP00000344961:p.Met212Thr	Somatic	396	2	0.00505051		WXS	Illumina HiSeq	Phase_I	331	327	0.987915	NM_001004330	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	1401	0.6414835164835165	268	0.5447154471544715	246	0.6795580110497238	516	0.9020979020979021	371	0.4894459102902375	C	0.014	-1.585935	0.00872	0.538811	0.490116	ENSG00000187510	ENST00000344636	T	0.29655	1.56	4.92	1.11	0.20524	Pleckstrin homology-type (1);	0.450495	0.26742	N	0.022734	T	0.00012	0.0000	N	0.11427	0.14	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.42327	-0.9458	9	0.02654	T	1	-0.012	1.0247	0.01525	0.2402:0.1579:0.1232:0.4787	rs924326;rs52824540;rs60008903;rs924326	212	Q6ZR37	PKHG7_HUMAN	T	212	ENSP00000344961:M212T	ENSP00000344961:M212T	M	+	2	0	PLEKHG7	91674233	0.000000	0.05858	0.983000	0.44433	0.272000	0.26649	-0.625000	0.05534	-0.061000	0.13110	-1.280000	0.01385	ATG	T|0.427;C|0.573	0.573	strong		0.353	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		C	93150102	T	C	93150102	3	2	22	1	0	0	0	0	1	0	0	0	12075	1464	51	2	661	2	PLEKHG7	12	93150102	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2195	93150102	40701793	6901	12009										
EEA1	8411	hgsc.bcm.edu	37	chr12	93196422	93196422	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatcttgtttcaggatttTtttttcttcctcttgcttgg	6	7	4	0	rs10745623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:93196422T>G	ENST00000322349.8	-	19	2692	c.2428A>C	c.(2428-2430)Aaa>Caa	p.K810Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	810			K -> Q (in dbSNP:rs10745623). {ECO:0000269|PubMed:7768953, ECO:0000269|Ref.2}.		early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCAGGATTTTTTTTTCTTCC	0.308													T|||	3533	0.705471	0.4887	0.7752	5008	,	,		15877	0.9405		0.6292	False		,,,				2504	0.7853				p.K810Q		Atlas-SNP	.											.	EEA1	104	.	0			c.A2428C						PASS	.	T	GLN/LYS	2315,2087	584.3+/-386.0	626,1063,512	71	67	69		2428	-8	0	12	dbSNP_120	69	5376,3216	638.1+/-399.3	1690,1996,610	yes	missense	EEA1	NM_003566.3	53	2316,3059,1122	GG,GT,TT		37.4302,47.4103,40.8111	benign	810/1412	93196422	7691,5303	2201	4296	6497	SO:0001583	missense	8411	exon19			GGATTTTTTTTTC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2428A>C	12.37:g.93196422T>G	ENSP00000317955:p.Lys810Gln	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	1537	0.7037545787545788	244	0.4959349593495935	278	0.7679558011049724	539	0.9423076923076923	476	0.6279683377308707	T	0.729	-0.780529	0.02929	0.525897	0.625698	ENSG00000102189	ENST00000322349	T	0.77229	-1.08	5.65	-7.99	0.01131	.	1.398190	0.04950	N	0.460191	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15141	0.012	B	0.11329	0.006	T	0.25676	-1.0125	9	0.26408	T	0.33	.	9.0371	0.36293	0.0:0.4642:0.3037:0.232	rs10745623;rs52803865;rs60080467;rs10745623	810	Q15075	EEA1_HUMAN	Q	810	ENSP00000317955:K810Q	ENSP00000317955:K810Q	K	-	1	0	EEA1	91720553	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.160000	0.10041	-1.421000	0.02007	-1.614000	0.00798	AAA	T|0.364;G|0.636	0.636	strong		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		G	93196422	T	G	93196422	3	3	22	1	0	0	0	0	1	0	0	0	4921	1850	64	5	1851	5	EEA1	12	93196422	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46320	93196422	40655473	6902	12010										
EEA1	8411	hgsc.bcm.edu	37	chr12	93202801	93202801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtttagcttacatttccttCtccatttcaagttgtttact	5	9	2	0	rs7970286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:93202801C>T	ENST00000322349.8	-	18	2595	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	777					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACATTTCCTTCTCCATTTCAA	0.358													C|||	2346	0.46845	0.1679	0.5245	5008	,	,		13451	0.8681		0.3569	False		,,,				2504	0.5378				p.E777E		Atlas-SNP	.											.	EEA1	104	.	0			c.G2331A						PASS	.	C		921,3485	349.3+/-310.3	112,697,1394	125	110	115		2331	2.9	1	12	dbSNP_116	115	2984,5616	463.0+/-365.8	512,1960,1828	no	coding-synonymous	EEA1	NM_003566.3		624,2657,3222	TT,TC,CC		34.6977,20.9033,30.0246		777/1412	93202801	3905,9101	2203	4300	6503	SO:0001819	synonymous_variant	8411	exon18			TTCCTTCTCCATT	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2331G>A	12.37:g.93202801C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	113	56	0.495575	NM_003566	Q14221	Silent	SNP	ENST00000322349.8	37	CCDS31874.1																																																																																			C|0.618;T|0.382	0.382	strong		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		T	93202801	C	T	93202801	2	4	22	1	0	0	0	0	0	0	0	1	4921	912	32	2		2	EEA1	12	93202801	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6379	93202801	40649094	6903	12011										
PLXNC1	10154	hgsc.bcm.edu	37	chr12	94658920	94658920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaaattaacaagggtccCgtggatgtaatcacttgcaa	9	8	1	1	rs2230759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:94658920C>T	ENST00000258526.4	+	21	3765	c.3516C>T	c.(3514-3516)ccC>ccT	p.P1172P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P219P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1172					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						ACAAGGGTCCCGTGGATGTAA	0.443													C|||	204	0.0407348	0.1225	0.0231	5008	,	,		18168	0.0		0.0199	False		,,,				2504	0.0061				p.P1172P		Atlas-SNP	.											.	PLXNC1	135	.	0			c.C3516T						PASS	.	C		485,3921	225.9+/-241.6	38,409,1756	193	205	201		3516	-9.1	0.1	12	dbSNP_98	201	125,8475	64.9+/-127.2	4,117,4179	no	coding-synonymous	PLXNC1	NM_005761.2		42,526,5935	TT,TC,CC		1.4535,11.0077,4.6901		1172/1569	94658920	610,12396	2203	4300	6503	SO:0001819	synonymous_variant	10154	exon21			GGGTCCCGTGGAT	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.3516C>T	12.37:g.94658920C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	171	74	0.432749	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																			C|0.959;T|0.041	0.041	strong		0.443	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94658920	C	T	94658920	2	4	22	1	0	0	0	0	0	0	0	1	12126	639	23	1		1	PLXNC1	12	94658920	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1456119	94658920	39192975	6904	12012										
TMCC3	57458	hgsc.bcm.edu	37	chr12	94972290	94972290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaggtcatgcagctggtcCtccagtcgctcataccttta	9	13	3	0	rs2270893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:94972290C>T	ENST00000261226.4	-	3	1142	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	TMCC3_ENST00000551457.1_Silent_p.E306E	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	337						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCAGCTGGTCCTCCAGTCGCT	0.542													C|||	2604	0.519968	0.5234	0.5634	5008	,	,		16768	0.4653		0.5378	False		,,,				2504	0.5225				p.E337E		Atlas-SNP	.											TMCC3,NS,carcinoma,0,1	TMCC3	63	1	0			c.G1011A						PASS	.	C		2276,2130	598.6+/-389.1	590,1096,517	71	57	62		1011	-1.1	1	12	dbSNP_100	62	4626,3974	600.1+/-394.2	1263,2100,937	no	coding-synonymous	TMCC3	NM_020698.2		1853,3196,1454	TT,TC,CC		46.2093,48.3432,46.9322		337/478	94972290	6902,6104	2203	4300	6503	SO:0001819	synonymous_variant	57458	exon3			CTGGTCCTCCAGT	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1011G>A	12.37:g.94972290C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	94	48	0.510638	NM_020698	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																			C|0.474;T|0.526	0.526	strong		0.542	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		T	94972290	C	T	94972290	2	4	22	1	0	0	0	0	0	0	0	1	15991	680	24	2		2	TMCC3	12	94972290	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	313370	94972290	38879605	6905	12013										
TMCC3	57458	hgsc.bcm.edu	37	chr12	94976084	94976084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcccgcctgctgcttgtcTgcgttgttcactagtttcag	10	13	3	0	rs3747552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:94976084T>C	ENST00000261226.4	-	2	440	c.309A>G	c.(307-309)gcA>gcG	p.A103A	TMCC3_ENST00000551457.1_Silent_p.A72A	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	103						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCTGCTTGTCTGCGTTGTTCA	0.453													C|||	3502	0.699281	0.9266	0.6095	5008	,	,		19833	0.6002		0.5775	False		,,,				2504	0.683				p.A103A		Atlas-SNP	.											.	TMCC3	63	.	0			c.A309G						PASS	.	C		3795,611	267.7+/-268.0	1645,505,53	155	142	146		309	-11.2	0	12	dbSNP_107	146	4855,3745	533.1+/-382.3	1393,2069,838	no	coding-synonymous	TMCC3	NM_020698.2		3038,2574,891	CC,CT,TT		43.5465,13.8675,33.4922		103/478	94976084	8650,4356	2203	4300	6503	SO:0001819	synonymous_variant	57458	exon2			CTTGTCTGCGTTG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.309A>G	12.37:g.94976084T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_020698	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																			T|0.335;C|0.665	0.665	strong		0.453	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		C	94976084	T	C	94976084	2	2	22	1	0	0	0	0	0	0	0	1	15991	1567	55	3		3	TMCC3	12	94976084	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3794	94976084	38875811	6906	12014										
TMCC3	57458	hgsc.bcm.edu	37	chr12	94976159	94976159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatttttatctgctctgtTacctttagaattttttgctt	4	7	3	1	rs3747551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:94976159T>C	ENST00000261226.4	-	2	365	c.234A>G	c.(232-234)gtA>gtG	p.V78V	TMCC3_ENST00000551457.1_Silent_p.V47V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	78						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCTGCTCTGTTACCTTTAGAA	0.478													T|||	1634	0.326278	0.2421	0.4092	5008	,	,		19343	0.3522		0.3231	False		,,,				2504	0.3579				p.V78V		Atlas-SNP	.											.	TMCC3	63	.	0			c.A234G						PASS	.	T		1146,3260	408.6+/-334.7	161,824,1218	191	184	186		234	-10.6	0.3	12	dbSNP_107	186	2938,5662	458.6+/-364.7	515,1908,1877	no	coding-synonymous	TMCC3	NM_020698.2		676,2732,3095	CC,CT,TT		34.1628,26.01,31.4009		78/478	94976159	4084,8922	2203	4300	6503	SO:0001819	synonymous_variant	57458	exon2			CTCTGTTACCTTT	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.234A>G	12.37:g.94976159T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	121	68	0.561983	NM_020698	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																			T|0.673;C|0.327	0.327	strong		0.478	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		C	94976159	T	C	94976159	2	2	22	1	0	0	0	0	0	0	0	1	15991	1741	61	2		2	TMCC3	12	94976159	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75	94976159	38875736	6907	12015										
FGD6	55785	hgsc.bcm.edu	37	chr12	95502303	95502303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttcatggtgtcattggcGtggttggctacctctataac	11	9	3	0	rs11107896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95502303G>A	ENST00000343958.4	-	10	3391	c.3168C>T	c.(3166-3168)caC>caT	p.H1056H	FGD6_ENST00000549499.1_Silent_p.H1056H|FGD6_ENST00000546711.1_Silent_p.H1056H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1056	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGTCATTGGCGTGGTTGGCTA	0.428													G|||	524	0.104633	0.0862	0.1484	5008	,	,		21293	0.1488		0.0577	False		,,,				2504	0.1012				p.H1056H		Atlas-SNP	.											.	FGD6	127	.	0			c.C3168T						PASS	.	G		343,4063	179.0+/-207.6	14,315,1874	164	129	141		3168	-0.4	1	12	dbSNP_120	141	633,7967	163.2+/-215.8	24,585,3691	no	coding-synonymous	FGD6	NM_018351.3		38,900,5565	AA,AG,GG		7.3605,7.7848,7.5042		1056/1431	95502303	976,12030	2203	4300	6503	SO:0001819	synonymous_variant	55785	exon10			ATTGGCGTGGTTG	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3168C>T	12.37:g.95502303G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	150	85	0.566667	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	CCDS31878.1																																																																																			G|0.906;A|0.094	0.094	strong		0.428	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95502303	G	A	95502303	2	1	22	1	0	0	0	0	0	0	0	1	5837	1136	40	1		1	FGD6	12	95502303	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	526144	95502303	38349592	6908	12016										
FGD6	55785	hgsc.bcm.edu	37	chr12	95603098	95603098	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcctgtggtggtgtctccGagttggctactcttggacca	14	10	2	0	rs17023760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95603098G>A	ENST00000343958.4	-	2	2185	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.L654L|FGD6_ENST00000546711.1_Silent_p.L654L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	654					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGGTGTCTCCGAGTTGGCTAC	0.448													G|||	248	0.0495208	0.0628	0.0375	5008	,	,		19534	0.0109		0.0467	False		,,,				2504	0.0828				p.L654L		Atlas-SNP	.											.	FGD6	127	.	0			c.C1962T						PASS	.	G		274,4132	153.7+/-187.2	6,262,1935	86	89	88		1962	-12.1	0	12	dbSNP_123	88	393,8207	125.0+/-183.6	10,373,3917	no	coding-synonymous	FGD6	NM_018351.3		16,635,5852	AA,AG,GG		4.5698,6.2188,5.1284		654/1431	95603098	667,12339	2203	4300	6503	SO:0001819	synonymous_variant	55785	exon2			GTCTCCGAGTTGG	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1962C>T	12.37:g.95603098G>A		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	180	91	0.505556	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	CCDS31878.1																																																																																			G|0.947;A|0.053	0.053	strong		0.448	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95603098	G	A	95603098	2	1	22	1	0	0	0	0	0	0	0	1	5837	1045	37	1		1	FGD6	12	95603098	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100795	95603098	38248797	6909	12017										
FGD6	55785	hgsc.bcm.edu	37	chr12	95604547	95604547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcttgcctttaaaacaacCccaccctggttcttggcttt	6	14	1	0	rs4762288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95604547C>T	ENST00000343958.4	-	2	736	c.513G>A	c.(511-513)ggG>ggA	p.G171G	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.G171G|FGD6_ENST00000546711.1_Silent_p.G171G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	171					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTAAAACAACCCCACCCTGGT	0.378													C|||	245	0.0489217	0.0613	0.036	5008	,	,		18637	0.0109		0.0467	False		,,,				2504	0.0828				p.G171G		Atlas-SNP	.											.	FGD6	127	.	0			c.G513A						PASS	.	C		250,4156	145.0+/-179.8	6,238,1959	70	69	69		513	-3.4	0	12	dbSNP_111	69	392,8208	125.6+/-184.2	10,372,3918	no	coding-synonymous	FGD6	NM_018351.3		16,610,5877	TT,TC,CC		4.5581,5.6741,4.9362		171/1431	95604547	642,12364	2203	4300	6503	SO:0001819	synonymous_variant	55785	exon2			AACAACCCCACCC	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.513G>A	12.37:g.95604547C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	119	59	0.495798	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	CCDS31878.1																																																																																			C|0.948;T|0.052	0.052	strong		0.378	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		T	95604547	C	T	95604547	2	4	22	1	0	0	0	0	0	0	0	1	5837	610	22	2		2	FGD6	12	95604547	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1449	95604547	38247348	6910	12018										
FGD6	55785	hgsc.bcm.edu	37	chr12	95604664	95604664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatttccaggggctctaaAacaagctgctttacacacaa	6	11	2	0	rs4762289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95604664A>G	ENST00000343958.4	-	2	619	c.396T>C	c.(394-396)gtT>gtC	p.V132V	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.V132V|FGD6_ENST00000546711.1_Silent_p.V132V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	132					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCTCTAAAACAAGCTGCT	0.353													A|||	238	0.047524	0.056	0.036	5008	,	,		19927	0.0109		0.0467	False		,,,				2504	0.0828				p.V132V		Atlas-SNP	.											.	FGD6	127	.	0			c.T396C						PASS	.	A		237,4169	135.3+/-171.4	4,229,1970	112	115	114		396	2.5	1	12	dbSNP_111	114	392,8208	125.5+/-184.1	10,372,3918	no	coding-synonymous	FGD6	NM_018351.3		14,601,5888	GG,GA,AA		4.5581,5.379,4.8362		132/1431	95604664	629,12377	2203	4300	6503	SO:0001819	synonymous_variant	55785	exon2			CTCTAAAACAAGC	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.396T>C	12.37:g.95604664A>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	161	78	0.484472	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	CCDS31878.1																																																																																			A|0.949;G|0.051	0.051	strong		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		G	95604664	A	G	95604664	2	3	22	1	0	0	0	0	0	0	0	1	5837	1	1	2		2	FGD6	12	95604664	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	117	95604664	38247231	6911	12019										
METAP2	10988	hgsc.bcm.edu	37	chr12	95879734	95879734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcccaaaggacaagaatgCgaatacccacccacacaaga	6	13	0	2	rs2305293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95879734C>T	ENST00000323666.5	+	4	634	c.405C>T	c.(403-405)tgC>tgT	p.C135C	METAP2_ENST00000551840.1_Silent_p.C134C|METAP2_ENST00000550777.1_Silent_p.C99C|METAP2_ENST00000546753.1_Silent_p.C112C|METAP2_ENST00000261220.9_Silent_p.C112C	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GACAAGAATGCGAATACCCAC	0.388													C|||	184	0.0367412	0.0038	0.0317	5008	,	,		17962	0.0238		0.0716	False		,,,				2504	0.0624				p.C135C		Atlas-SNP	.											.	METAP2	28	.	0			c.C405T						PASS	.	C		66,4340	61.1+/-98.1	0,66,2137	165	153	157		405	1.8	1	12	dbSNP_100	157	584,8016	155.8+/-209.8	13,558,3729	no	coding-synonymous	METAP2	NM_006838.3		13,624,5866	TT,TC,CC		6.7907,1.498,4.9977		135/479	95879734	650,12356	2203	4300	6503	SO:0001819	synonymous_variant	10988	exon4			AGAATGCGAATAC	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.405C>T	12.37:g.95879734C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_006838		Silent	SNP	ENST00000323666.5	37	CCDS9052.1																																																																																			C|0.954;T|0.046	0.046	strong		0.388	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		T	95879734	C	T	95879734	2	4	22	1	0	0	0	0	0	0	0	1	9487	776	27	1		1	METAP2	12	95879734	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	275070	95879734	37972161	6912	12020										
USP44	84101	hgsc.bcm.edu	37	chr12	95927087	95927087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttacaagatcttgtcttctCgctagcagtcatagccagcc	7	13	4	1	rs7305024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95927087C>G	ENST00000258499.3	-	2	1234	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	USP44_ENST00000552440.1_Missense_Mutation_p.E316Q|USP44_ENST00000393091.2_Missense_Mutation_p.E316Q|USP44_ENST00000537435.2_Missense_Mutation_p.E316Q	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	316	USP.		E -> Q (in dbSNP:rs7305024).		mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTTGTCTTCTCGCTAGCAGTC	0.368													C|||	251	0.0501198	0.1808	0.0159	5008	,	,		21981	0.0		0.001	False		,,,				2504	0.0				p.E316Q		Atlas-SNP	.											.	USP44	83	.	0			c.G946C						PASS	.	C	GLN/GLU,GLN/GLU	667,3739	282.2+/-276.4	46,575,1582	59	56	57		946,946	5	0.5	12	dbSNP_116	57	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	USP44	NM_001042403.1,NM_032147.2	29,29	46,580,5877	GG,GC,CC		0.0581,15.1384,5.1668	benign,benign	316/713,316/713	95927087	672,12334	2203	4300	6503	SO:0001583	missense	84101	exon2			TCTTCTCGCTAGC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.946G>C	12.37:g.95927087C>G	ENSP00000258499:p.Glu316Gln	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	64	31	0.484375	NM_032147	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	103	0.04716117216117216	97	0.19715447154471544	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	3.204	-0.163026	0.06502	0.151384	5.81E-4	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.96	4.96	0.65561	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.473004	0.24200	N	0.040632	T	0.00039	0.0001	N	0.24115	0.695	0.44899	P	0.0020879999999999788	B	0.27264	0.173	B	0.35114	0.196	T	0.27054	-1.0085	9	0.16896	T	0.51	.	18.5826	0.91177	0.0:1.0:0.0:0.0	rs7305024;rs52829293;rs7305024	316	Q9H0E7	UBP44_HUMAN	Q	316	ENSP00000258499:E316Q;ENSP00000376806:E316Q;ENSP00000448670:E316Q;ENSP00000442629:E316Q	ENSP00000258499:E316Q	E	-	1	0	USP44	94451218	1.000000	0.71417	0.477000	0.27303	0.042000	0.13812	2.166000	0.42406	2.457000	0.83068	0.561000	0.74099	GAG	C|0.955;G|0.045	0.045	strong		0.368	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		G	95927087	C	G	95927087	3	3	22	1	0	0	0	0	1	0	0	0	17072	893	31	4	1212	4	USP44	12	95927087	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47353	95927087	37924808	6913	12021										
USP44	84101	hgsc.bcm.edu	37	chr12	95927172	95927172	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgactcaacacctgaagAacagaattcatatagcaagt	6	8	2	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:95927172A>G	ENST00000258499.3	-	2	1149	c.861T>C	c.(859-861)gtT>gtC	p.V287V	USP44_ENST00000552440.1_Silent_p.V287V|USP44_ENST00000393091.2_Silent_p.V287V|USP44_ENST00000537435.2_Silent_p.V287V	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	287	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACACCTGAAGAACAGAATTCA	0.378																																					p.V287V		Atlas-SNP	.											.	USP44	83	.	0			c.T861C						PASS	.						77	79	78					12																	95927172		2203	4300	6503	SO:0001819	synonymous_variant	84101	exon2			CTGAAGAACAGAA	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.861T>C	12.37:g.95927172A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_032147	B2RDW3	Silent	SNP	ENST00000258499.3	37	CCDS9053.1																																																																																			.	.	none		0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		G	95927172	A	G	95927172	2	3	22	1	0	0	0	0	0	0	0	1	17072	233	9	2		2	USP44	12	95927172	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85	95927172	37924723	6914	12022										
NTN4	59277	hgsc.bcm.edu	37	chr12	96077312	96077312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatagggtcacagctcccCgcacagtcacatggtcgaca	11	13	2	1	rs17851048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:96077312C>T	ENST00000343702.4	-	6	1804	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	NTN4_ENST00000538383.1_Silent_p.A415A|NTN4_ENST00000553059.1_Silent_p.A452A|NTN4_ENST00000344911.4_Silent_p.A415A	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	452					axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CACAGCTCCCCGCACAGTCAC	0.557													C|||	585	0.116813	0.0197	0.2104	5008	,	,		20137	0.0		0.2952	False		,,,				2504	0.1186				p.A452A		Atlas-SNP	.											.	NTN4	67	.	0			c.G1356A						PASS	.	C		244,4162	142.3+/-177.5	12,220,1971	96	80	85		1356	-11.5	0	12	dbSNP_123	85	2345,6255	390.2+/-343.2	313,1719,2268	no	coding-synonymous	NTN4	NM_021229.3		325,1939,4239	TT,TC,CC		27.2674,5.5379,19.9062		452/629	96077312	2589,10417	2203	4300	6503	SO:0001819	synonymous_variant	59277	exon6			GCTCCCCGCACAG	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1356G>A	12.37:g.96077312C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	99	47	0.474747	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	ENST00000343702.4	37	CCDS9054.1																																																																																			C|0.819;T|0.181	0.181	strong		0.557	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		T	96077312	C	T	96077312	2	4	22	1	0	0	0	0	0	0	0	1	10702	639	23	1		1	NTN4	12	96077312	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	150140	96077312	37774583	6915	12023										
ELK3	2004	hgsc.bcm.edu	37	chr12	96641344	96641344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccttgaacctgtcatcGggctccaagaccaagtctcc	9	15	2	2	rs115218295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:96641344G>A	ENST00000228741.3	+	3	1160	c.834G>A	c.(832-834)tcG>tcA	p.S278S	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	278					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S278S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ACCTGTCATCGGGCTCCAAGA	0.602													G|||	45	0.00898562	0.0333	0.0	5008	,	,		16138	0.0		0.001	False		,,,				2504	0.0				p.S278S		Atlas-SNP	.											.	ELK3	36	.	1	Substitution - coding silent(1)	lung(1)	c.G834A						PASS	.	G		125,4281	90.6+/-129.3	2,121,2080	67	75	72		834	-1.9	0.9	12	dbSNP_132	72	0,8600		0,0,4300	no	coding-synonymous	ELK3	NM_005230.2		2,121,6380	AA,AG,GG		0.0,2.837,0.9611		278/408	96641344	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	2004	exon3			GTCATCGGGCTCC	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.834G>A	12.37:g.96641344G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_005230	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	CCDS9060.1																																																																																			G|0.990;A|0.010	0.010	strong		0.602	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		A	96641344	G	A	96641344	2	1	22	1	0	0	0	0	0	0	0	1	5060	1103	39	1		1	ELK3	12	96641344	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	564032	96641344	37210551	6916	12024										
FAM71C	196472	hgsc.bcm.edu	37	chr12	100042163	100042163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgtgcccgaatggtaacaAtgggcatcgttcgcaccagc	11	13	0	0	rs11109969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:100042163A>G	ENST00000324341.1	+	1	633	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	71			M -> V (in dbSNP:rs11109969).							breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		AATGGTAACAATGGGCATCGT	0.532													G|||	1082	0.216054	0.298	0.1772	5008	,	,		19135	0.0992		0.2903	False		,,,				2504	0.1769				p.M71V		Atlas-SNP	.											.	FAM71C	48	.	0			c.A211G						PASS	.	G	,VAL/MET	1283,3123	699.8+/-406.5	165,953,1085	134	112	119		,211	2	0.2	12	dbSNP_120	119	2551,6049	691.5+/-404.5	386,1779,2135	yes	intron,missense	ANKS1B,FAM71C	NM_152788.4,NM_153364.3	,21	551,2732,3220	GG,GA,AA		29.6628,29.1194,29.4787	,benign	,71/242	100042163	3834,9172	2203	4300	6503	SO:0001583	missense	196472	exon1			GTAACAATGGGCA		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.211A>G	12.37:g.100042163A>G	ENSP00000315247:p.Met71Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	128	52	0.40625	NM_153364	B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	CCDS9072.1	514	0.23534798534798534	150	0.3048780487804878	74	0.20441988950276244	56	0.0979020979020979	234	0.3087071240105541	G	0.001	-2.909759	0.00056	0.291194	0.296628	ENSG00000180219	ENST00000324341	T	0.07688	3.17	3.85	1.97	0.26223	.	0.206665	0.29964	N	0.010752	T	0.00012	0.0000	N	0.02202	-0.64	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48525	-0.9028	8	.	.	.	-12.1097	6.2766	0.20983	0.1027:0.3583:0.539:0.0	rs11109969;rs56567578;rs11109969	71	Q8NEG0	FA71C_HUMAN	V	71	ENSP00000315247:M71V	.	M	+	1	0	FAM71C	98566294	0.003000	0.15002	0.214000	0.23707	0.008000	0.06430	-0.136000	0.10405	0.210000	0.20664	-1.081000	0.02215	ATG	A|0.738;G|0.262	0.262	strong		0.532	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		G	100042163	A	G	100042163	3	3	22	1	0	0	0	0	1	0	0	0	5609	101	4	2	213	2	FAM71C	12	100042163	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3400819	100042163	33809732	6917	12025										
DEPDC4	120863	hgsc.bcm.edu	37	chr12	100657464	100657464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattagaacttggcaaagaTgaacccctttaagacaagag	8	8	1	5	rs7307415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:100657464T>C	ENST00000416321.1	-	2	367	c.365A>G	c.(364-366)cAt>cGt	p.H122R		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	122	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.		H -> R (in dbSNP:rs7307415).		intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTGGCAAAGATGAACCCCTTT	0.363													T|||	465	0.0928514	0.2579	0.0692	5008	,	,		19287	0.0		0.0686	False		,,,				2504	0.0072				p.H122R		Atlas-SNP	.											.	DEPDC4	34	.	0			c.A365G						PASS	.	T	ARG/HIS	1074,3332	392.1+/-328.4	143,788,1272	126	116	119		365	-4.8	0.1	12	dbSNP_116	119	586,8014	157.3+/-211.0	27,532,3741	yes	missense	DEPDC4	NM_152317.2	29	170,1320,5013	CC,CT,TT		6.814,24.3759,12.7633	benign	122/295	100657464	1660,11346	2203	4300	6503	SO:0001583	missense	120863	exon2			CAAAGATGAACCC	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.365A>G	12.37:g.100657464T>C	ENSP00000396234:p.His122Arg	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	99	53	0.535354	NM_152317	Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	CCDS9075.1	200	0.09157509157509157	124	0.25203252032520324	27	0.07458563535911603	0	0.0	49	0.06464379947229551	T	0.009	-1.824954	0.00589	0.243759	0.06814	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.93	-4.79	0.03200	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.390052	0.26019	N	0.026833	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13495	-1.0507	9	0.02654	T	1	.	11.9547	0.52974	0.0:0.3463:0.0:0.6537	rs7307415;rs52830271;rs59614867;rs7307415	122;55;122	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	R	122;55;122;122;55;115	ENSP00000396234:H122R;ENSP00000448385:H122R;ENSP00000448338:H55R;ENSP00000449590:H115R	ENSP00000367490:H122R	H	-	2	0	DEPDC4	99181595	0.132000	0.22450	0.059000	0.19551	0.405000	0.30901	0.320000	0.19540	-1.661000	0.01484	-1.032000	0.02404	CAT	T|0.876;C|0.124	0.124	strong		0.363	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		C	100657464	T	C	100657464	3	2	22	1	0	0	0	0	1	0	0	0	4441	1464	51	2	535	2	DEPDC4	12	100657464	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	615301	100657464	33194431	6918	12026										
GAS2L3	283431	hgsc.bcm.edu	37	chr12	101018061	101018061	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcacttagctgcacattCaaattcatcctcaaaatgtc	3	12	4	0	rs61748063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101018061C>T	ENST00000539410.1	+	9	1864	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.S493L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S493L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S389L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	493					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACATTCAAATTCATCC	0.363													C|||	17	0.00339457	0.0008	0.0086	5008	,	,		20148	0.0		0.008	False		,,,				2504	0.002				p.S493L		Atlas-SNP	.											.	GAS2L3	76	.	0			c.C1478T						PASS	.	C	LEU/SER	6,4398	11.4+/-27.6	0,6,2196	61	65	64		1478	-0.2	0	12	dbSNP_129	64	50,8550	32.8+/-85.7	0,50,4250	yes	missense	GAS2L3	NM_174942.1	145	0,56,6446	TT,TC,CC		0.5814,0.1362,0.4306	benign	493/695	101018061	56,12948	2202	4300	6502	SO:0001583	missense	283431	exon10			CACATTCAAATTC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1478C>T	12.37:g.101018061C>T	ENSP00000439672:p.Ser493Leu	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	57	30	0.526316	NM_174942	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	11	0.005036630036630037	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	5	0.006596306068601583	C	0.060	-1.227601	0.01518	0.001362	0.005814	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.22743	1.96;1.96;1.94;1.96	4.93	-0.166	0.13351	.	1.089570	0.07116	N	0.843066	T	0.06142	0.0159	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37478	-0.9704	10	0.23302	T	0.38	-1.9276	10.8995	0.47043	0.0:0.4908:0.0:0.5092	rs61748063	493	Q86XJ1	GA2L3_HUMAN	L	493;493;389;493	ENSP00000266754:S493L;ENSP00000448955:S493L;ENSP00000442406:S389L;ENSP00000439672:S493L	ENSP00000266754:S493L	S	+	2	0	GAS2L3	99542192	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.585000	0.05794	-0.113000	0.11958	-0.793000	0.03317	TCA	C|0.995;T|0.005	0.005	strong		0.363	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		T	101018061	C	T	101018061	3	4	22	1	0	0	0	0	1	0	0	0	6248	838	29	2	1508	2	GAS2L3	12	101018061	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	360597	101018061	32833834	6919	12027										
GAS2L3	283431	hgsc.bcm.edu	37	chr12	101018161	101018161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatgacaaaaaccagttcCaaaaccatagccacgggtct	6	11	1	1	rs1045603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101018161C>T	ENST00000539410.1	+	9	1964	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	GAS2L3_ENST00000266754.5_Silent_p.S526S|GAS2L3_ENST00000547754.1_Silent_p.S526S|GAS2L3_ENST00000537247.1_Silent_p.S422S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	526					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAACCAGTTCCAAAACCATAG	0.448													C|||	504	0.100639	0.093	0.1427	5008	,	,		18489	0.0962		0.1123	False		,,,				2504	0.0736				p.S526S		Atlas-SNP	.											.	GAS2L3	76	.	0			c.C1578T						PASS	.	C		350,4056	181.2+/-209.3	12,326,1865	55	56	56		1578	-2.7	0.4	12	dbSNP_86	56	881,7719	199.0+/-243.2	49,783,3468	no	coding-synonymous	GAS2L3	NM_174942.1		61,1109,5333	TT,TC,CC		10.2442,7.9437,9.4649		526/695	101018161	1231,11775	2203	4300	6503	SO:0001819	synonymous_variant	283431	exon10			CAGTTCCAAAACC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1578C>T	12.37:g.101018161C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	47	20	0.425532	NM_174942	B2RCN2	Silent	SNP	ENST00000539410.1	37	CCDS9079.1																																																																																			C|0.901;T|0.099	0.099	strong		0.448	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		T	101018161	C	T	101018161	2	4	22	1	0	0	0	0	0	0	0	1	6248	581	21	2		2	GAS2L3	12	101018161	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100	101018161	32833734	6920	12028										
SLC5A8	160728	hgsc.bcm.edu	37	chr12	101551065	101551065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagagcagcttcacaaacGagtcccattgctcttgccac	7	14	3	1	rs113062899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101551065G>A	ENST00000536262.2	-	15	2383	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTCACAAACGAGTCCCATTG	0.378													G|||	60	0.0119808	0.0446	0.0014	5008	,	,		19406	0.0		0.0	False		,,,				2504	0.0				p.R609C	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.C1825T						PASS	.	G	CYS/ARG	145,4261	100.7+/-139.4	0,145,2058	136	119	125		1825	5.2	1	12	dbSNP_132	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A8	NM_145913.3	180	0,146,6357	AA,AG,GG		0.0116,3.291,1.1226	probably-damaging	609/611	101551065	146,12860	2203	4300	6503	SO:0001583	missense	160728	exon15			ACAAACGAGTCCC	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1825C>T	12.37:g.101551065G>A	ENSP00000445340:p.Arg609Cys	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	118	67	0.567797	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	G	15.83	2.949451	0.53186	0.03291	1.16E-4	ENSG00000256870	ENST00000536262	D	0.86230	-2.09	5.15	5.15	0.70609	.	0.710763	0.13338	N	0.395349	T	0.55577	0.1929	L	0.47716	1.5	0.40861	D	0.983839	D	0.56968	0.978	B	0.43623	0.425	T	0.77590	-0.2531	10	0.87932	D	0	.	15.919	0.79544	0.0:0.0:1.0:0.0	.	609	Q8N695	SC5A8_HUMAN	C	609	ENSP00000445340:R609C	ENSP00000445340:R609C	R	-	1	0	SLC5A8	100075196	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.942000	0.56614	2.574000	0.86865	0.655000	0.94253	CGT	G|0.987;A|0.013	0.013	strong		0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		A	101551065	G	A	101551065	3	1	22	1	0	0	0	0	1	0	0	0	14671	1058	37	1	11	1	SLC5A8	12	101551065	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	532904	101551065	32300830	6921	12029										
UTP20	27340	hgsc.bcm.edu	37	chr12	101679569	101679569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacaaatgccaatcattcaAtcagttggtgtatcaccaaa	6	9	4	1	rs140064475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101679569A>G	ENST00000261637.4	+	4	410	c.236A>G	c.(235-237)aAt>aGt	p.N79S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	79					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAATCATTCAATCAGTTGGTG	0.368													A|||	11	0.00219649	0.0083	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.0				p.N79S		Atlas-SNP	.											.	UTP20	222	.	0			c.A236G						PASS	.	A	SER/ASN	23,4383	30.8+/-60.4	0,23,2180	99	99	99		236	5.6	1	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UTP20	NM_014503.2	46	0,24,6479	GG,GA,AA		0.0116,0.522,0.1845	probably-damaging	79/2786	101679569	24,12982	2203	4300	6503	SO:0001583	missense	27340	exon4			CATTCAATCAGTT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.236A>G	12.37:g.101679569A>G	ENSP00000261637:p.Asn79Ser	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	44	25	0.568182	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	15.61	2.883689	0.51908	0.00522	1.16E-4	ENSG00000120800	ENST00000261637	T	0.40476	1.03	5.56	5.56	0.83823	.	0.104115	0.64402	D	0.000005	T	0.48132	0.1483	L	0.57536	1.79	0.48040	D	0.999572	D	0.62365	0.991	P	0.58013	0.831	T	0.53215	-0.8470	10	0.46703	T	0.11	-26.0442	15.7176	0.77681	1.0:0.0:0.0:0.0	.	79	O75691	UTP20_HUMAN	S	79	ENSP00000261637:N79S	ENSP00000261637:N79S	N	+	2	0	UTP20	100203700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.098000	0.76974	2.104000	0.64026	0.528000	0.53228	AAT	A|0.998;G|0.002	0.002	strong		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		G	101679569	A	G	101679569	3	3	22	1	0	0	0	0	1	0	0	0	17096	101	4	2	250	2	UTP20	12	101679569	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	128504	101679569	32172326	6922	12030										
UTP20	27340	hgsc.bcm.edu	37	chr12	101683929	101683929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttaggtctctgataaaaaCgcacttttcaatttaatgtt	5	6	2	1	rs703715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101683929C>T	ENST00000261637.4	+	7	786	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	204					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTGATAAAAACGCACTTTTCA	0.284													T|||	3339	0.666733	0.8533	0.5836	5008	,	,		18306	0.5982		0.6074	False		,,,				2504	0.6053				p.N204N		Atlas-SNP	.											UTP20,NS,malignant_melanoma,+1,1	UTP20	222	1	0			c.C612T						PASS	.	T		3631,773	304.9+/-288.7	1494,643,65	44	50	48		612	0.2	0.6	12	dbSNP_86	48	5152,3448	501.0+/-375.3	1582,1988,730	no	coding-synonymous	UTP20	NM_014503.2		3076,2631,795	TT,TC,CC		40.093,17.5522,32.4592		204/2786	101683929	8783,4221	2202	4300	6502	SO:0001819	synonymous_variant	27340	exon7			TAAAAACGCACTT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.612C>T	12.37:g.101683929C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	68	29	0.426471	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																			C|0.346;T|0.654	0.654	strong		0.284	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		T	101683929	C	T	101683929	2	4	22	1	0	0	0	0	0	0	0	1	17096	535	19	1		1	UTP20	12	101683929	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4360	101683929	32167966	6923	12031										
UTP20	27340	hgsc.bcm.edu	37	chr12	101693534	101693534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtattggaccatcttttatCtataattaagttacccccaa	4	9	2	0	rs4764643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101693534C>G	ENST00000261637.4	+	13	1679	c.1505C>G	c.(1504-1506)tCt>tGt	p.S502C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	502			S -> C (in dbSNP:rs4764643).		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATCTTTTATCTATAATTAAG	0.338													C|||	529	0.105631	0.0439	0.1254	5008	,	,		19257	0.0288		0.1849	False		,,,				2504	0.1728				p.S502C		Atlas-SNP	.											.	UTP20	222	.	0			c.C1505G						PASS	.	C	CYS/SER	249,4157	140.8+/-176.2	7,235,1961	63	66	65		1505	5.8	0	12	dbSNP_111	65	1627,6971	300.4+/-304.9	169,1289,2841	yes	missense	UTP20	NM_014503.2	112	176,1524,4802	GG,GC,CC		18.923,5.6514,14.4263	probably-damaging	502/2786	101693534	1876,11128	2203	4299	6502	SO:0001583	missense	27340	exon13			TTTTATCTATAAT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1505C>G	12.37:g.101693534C>G	ENSP00000261637:p.Ser502Cys	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	128	66	0.515625	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	239	0.10943223443223443	27	0.054878048780487805	50	0.13812154696132597	17	0.02972027972027972	145	0.19129287598944592	C	13.57	2.277826	0.40294	0.056514	0.18923	ENSG00000120800	ENST00000261637	T	0.67698	-0.28	5.75	5.75	0.90469	Armadillo-type fold (1);	0.055091	0.85682	D	0.000000	T	0.00210	0.0006	L	0.36672	1.1	0.39688	P	0.028996000000000022	D	0.56521	0.976	P	0.49192	0.602	T	0.00885	-1.1527	9	0.51188	T	0.08	-11.3363	18.1211	0.89572	0.0:1.0:0.0:0.0	rs4764643;rs56577815;rs4764643	502	O75691	UTP20_HUMAN	C	502	ENSP00000261637:S502C	ENSP00000261637:S502C	S	+	2	0	UTP20	100217665	0.661000	0.27430	0.019000	0.16419	0.014000	0.08584	2.834000	0.48167	2.716000	0.92895	0.650000	0.86243	TCT	C|0.865;G|0.135	0.135	strong		0.338	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		G	101693534	C	G	101693534	3	3	22	1	0	0	0	0	1	0	0	0	17096	913	32	4	1555	4	UTP20	12	101693534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9605	101693534	32158361	6924	12032										
UTP20	27340	hgsc.bcm.edu	37	chr12	101776996	101776996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaggaagaggtgaaggaaGagctcggcaggccggccacg	18	8	0	4	rs1061436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:101776996G>C	ENST00000261637.4	+	59	8008	c.7834G>C	c.(7834-7836)Gag>Cag	p.E2612Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2612			E -> Q (in dbSNP:rs1061436).		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGAAGGAAGAGCTCGGCAG	0.532													G|||	435	0.086861	0.0182	0.1153	5008	,	,		14588	0.0278		0.165	False		,,,				2504	0.1401				p.E2612Q		Atlas-SNP	.											.	UTP20	222	.	0			c.G7834C						PASS	.	G	GLN/GLU	169,4237	111.2+/-149.4	4,161,2038	62	70	67		7834	2.4	0	12	dbSNP_86	67	1432,7168	275.4+/-291.8	119,1194,2987	yes	missense	UTP20	NM_014503.2	29	123,1355,5025	CC,CG,GG		16.6512,3.8357,12.3097	benign	2612/2786	101776996	1601,11405	2203	4300	6503	SO:0001583	missense	27340	exon59			AAGGAAGAGCTCG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7834G>C	12.37:g.101776996G>C	ENSP00000261637:p.Glu2612Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	203	0.09294871794871795	11	0.022357723577235773	46	0.1270718232044199	16	0.027972027972027972	130	0.17150395778364116	G	12.10	1.836371	0.32421	0.038357	0.166512	ENSG00000120800	ENST00000261637	T	0.04970	3.52	5.46	2.43	0.29744	.	0.501020	0.18522	N	0.138727	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	P	0.35656	0.514	B	0.25291	0.059	T	0.43734	-0.9373	9	0.15499	T	0.54	-4.2624	10.1662	0.42882	0.0699:0.2572:0.6729:0.0	rs1061436;rs3202548;rs3816569;rs17415284;rs1061436	2612	O75691	UTP20_HUMAN	Q	2612	ENSP00000261637:E2612Q	ENSP00000261637:E2612Q	E	+	1	0	UTP20	100301127	0.416000	0.25424	0.002000	0.10522	0.001000	0.01503	2.618000	0.46393	0.657000	0.30906	0.643000	0.83706	GAG	G|0.878;C|0.122	0.122	strong		0.532	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		C	101776996	G	C	101776996	3	2	22	1	0	0	0	0	1	0	0	0	17096	943	33	4	8068	4	UTP20	12	101776996	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83462	101776996	32074899	6925	12033										
MYBPC1	4604	hgsc.bcm.edu	37	chr12	102036305	102036305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccagtatggaatcaccgaCctgcgcggcatgctcaagcg	11	13	2	0	rs2293468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:102036305C>T	ENST00000550270.1	+	9	699	c.699C>T	c.(697-699)gaC>gaT	p.D233D	MYBPC1_ENST00000536007.1_Silent_p.D214D|MYBPC1_ENST00000441232.1_Silent_p.D233D|MYBPC1_ENST00000541119.1_Silent_p.D221D|MYBPC1_ENST00000360610.2_Silent_p.D233D|MYBPC1_ENST00000551300.1_Silent_p.D134D|MYBPC1_ENST00000547405.1_Silent_p.D207D|MYBPC1_ENST00000361685.2_Silent_p.D258D|MYBPC1_ENST00000553190.1_Silent_p.D233D|MYBPC1_ENST00000452455.2_Silent_p.D233D|MYBPC1_ENST00000547509.1_Silent_p.D219D|MYBPC1_ENST00000545503.2_Silent_p.D233D|MYBPC1_ENST00000392934.3_Silent_p.D220D|MYBPC1_ENST00000549145.1_Silent_p.D246D|MYBPC1_ENST00000361466.2_Silent_p.D258D|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	233				GITDLR -> ESPTCS (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAATCACCGACCTGCGCGGCA	0.627													C|||	1474	0.294329	0.289	0.2493	5008	,	,		19254	0.3879		0.2823	False		,,,				2504	0.2495				p.D258D		Atlas-SNP	.											.	MYBPC1	235	.	0			c.C774T						PASS	.	C	,,,	1283,3123	433.3+/-343.5	197,889,1117	88	71	76		774,774,699,699	3.4	1	12	dbSNP_100	76	2466,6134	403.5+/-347.8	343,1780,2177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	,,,	540,2669,3294	TT,TC,CC		28.6744,29.1194,28.8252	,,,	258/1172,258/1149,233/1142,233/1124	102036305	3749,9257	2203	4300	6503	SO:0001819	synonymous_variant	4604	exon11			CACCGACCTGCGC		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.699C>T	12.37:g.102036305C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_206819	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																			C|0.704;T|0.296	0.296	strong		0.627	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102036305	C	T	102036305	2	4	22	1	0	0	0	0	0	0	0	1	10011	506	18	2		2	MYBPC1	12	102036305	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	259309	102036305	31815590	6926	12034										
PAH	5053	hgsc.bcm.edu	37	chr12	103248924	103248924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacttactctgcaggaaCtgagaaacgtcttccagctg	11	10	2	1	rs1126758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:103248924C>T	ENST00000553106.1	-	6	1168	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.Q227Q	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	232					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCTGCAGGAACTGAGAAACGT	0.483													T|||	2737	0.546526	0.8011	0.6888	5008	,	,		21740	0.0794		0.5815	False		,,,				2504	0.547				p.Q232Q		Atlas-SNP	.											.	PAH	77	.	0			c.G696A						PASS	.	T		3385,1021	376.6+/-322.1	1296,793,114	120	110	114	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	696	-9.4	0.4	12	dbSNP_86	114	5115,3485	510.6+/-377.5	1510,2095,695	no	coding-synonymous	PAH	NM_000277.1		2806,2888,809	TT,TC,CC		40.5233,23.1729,34.6455		232/453	103248924	8500,4506	2203	4300	6503	SO:0001819	synonymous_variant	5053	exon6			CAGGAACTGAGAA	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.696G>A	12.37:g.103248924C>T		Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_000277	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																			C|0.415;T|0.585	0.585	strong		0.483	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			T	103248924	C	T	103248924	2	4	22	1	0	0	0	0	0	0	0	1	11394	564	20	2		2	PAH	12	103248924	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1212619	103248924	30602971	6927	12035										
ASCL1	429	hgsc.bcm.edu	37	chr12	103352649	103352649	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatggccggctcgccggtCtcatcctactcgtcggacga	11	16	1	0	rs731682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:103352649C>G	ENST00000266744.3	+	1	1186	c.627C>G	c.(625-627)gtC>gtG	p.V209V		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	209					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GCTCGCCGGTCTCATCCTACT	0.647													C|||	357	0.0712859	0.205	0.0317	5008	,	,		15749	0.0		0.0457	False		,,,				2504	0.0184				p.V209V		Atlas-SNP	.											.	ASCL1	16	.	0			c.C627G						PASS	.	C		887,3515		96,695,1410	28	31	30		627	1.9	1	12	dbSNP_86	30	463,8125		15,433,3846	no	coding-synonymous	ASCL1	NM_004316.3		111,1128,5256	GG,GC,CC		5.3912,20.1499,10.3926		209/237	103352649	1350,11640	2201	4294	6495	SO:0001819	synonymous_variant	429	exon1			GCCGGTCTCATCC	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.627C>G	12.37:g.103352649C>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	172	73	0.424419	NM_004316	A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	CCDS31886.1																																																																																			C|0.917;G|0.083	0.083	strong		0.647	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			G	103352649	C	G	103352649	2	3	22	1	0	0	0	0	0	0	0	1	1034	900	32	4		4	ASCL1	12	103352649	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103725	103352649	30499246	6928	12036										
STAB2	55576	hgsc.bcm.edu	37	chr12	104014294	104014294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatggcagaggcagttgtgCtgaaggcatggaaggaaatg	16	5	0	2	rs150189813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104014294C>T	ENST00000388887.2	+	4	584	c.380C>T	c.(379-381)gCt>gTt	p.A127V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCAGTTGTGCTGAAGGCATG	0.493													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19345	0.0		0.0	False		,,,				2504	0.0				p.A127V		Atlas-SNP	.											.	STAB2	370	.	0			c.C380T						PASS	.	C	VAL/ALA	5,4399		0,5,2197	115	93	100		380	1.8	0.1	12	dbSNP_134	100	0,8594		0,0,4297	yes	missense	STAB2	NM_017564.9	64	0,5,6494	TT,TC,CC		0.0,0.1135,0.0385	possibly-damaging	127/2552	104014294	5,12993	2202	4297	6499	SO:0001583	missense	55576	exon4			GTTGTGCTGAAGG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.380C>T	12.37:g.104014294C>T	ENSP00000373539:p.Ala127Val	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	209	107	0.511962	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.25	2.179669	0.38511	0.001135	0.0	ENSG00000136011	ENST00000388887	D	0.83673	-1.75	4.98	1.84	0.25277	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.200082	0.43919	D	0.000512	T	0.71221	0.3314	L	0.33485	1.01	0.18873	N	0.999987	P	0.41041	0.736	B	0.38803	0.282	T	0.59762	-0.7393	10	0.18710	T	0.47	.	11.2145	0.48819	0.5338:0.4662:0.0:0.0	.	127	Q8WWQ8	STAB2_HUMAN	V	127	ENSP00000373539:A127V	ENSP00000373539:A127V	A	+	2	0	STAB2	102538424	0.227000	0.23707	0.136000	0.22124	0.997000	0.91878	0.357000	0.20199	0.122000	0.18314	0.549000	0.68633	GCT	C|1.000;T|0.000	0.000	strong		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104014294	C	T	104014294	3	4	22	1	0	0	0	0	1	0	0	0	15237	797	28	2	394	2	STAB2	12	104014294	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	661645	104014294	29837601	6929	12037										
STAB2	55576	hgsc.bcm.edu	37	chr12	104086631	104086631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccattgtcgatggggacaaCgcagccacaaatggagtgat	12	9	0	1	rs703651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104086631C>T	ENST00000388887.2	+	31	3543	c.3339C>T	c.(3337-3339)aaC>aaT	p.N1113N		NM_017564.9	NP_060034.9			stabilin 2									p.N1113N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGGGGACAACGCAGCCACAA	0.448													C|||	2343	0.467851	0.4463	0.4092	5008	,	,		18770	0.5585		0.4632	False		,,,				2504	0.4499				p.N1113N		Atlas-SNP	.											STAB2,rectum,carcinoma,0,2	STAB2	370	2	1	Substitution - coding silent(1)	stomach(1)	c.C3339T						PASS	.	C		1941,2465	550.9+/-378.2	420,1101,682	164	139	147		3339	-9.7	0	12	dbSNP_86	147	3825,4775	536.4+/-383.0	839,2147,1314	no	coding-synonymous	STAB2	NM_017564.9		1259,3248,1996	TT,TC,CC		44.4767,44.0536,44.3334		1113/2552	104086631	5766,7240	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon31			GGACAACGCAGCC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3339C>T	12.37:g.104086631C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	163	73	0.447853	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			C|0.546;T|0.453	0.453	strong		0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104086631	C	T	104086631	2	4	22	1	0	0	0	0	0	0	0	1	15237	535	19	1		1	STAB2	12	104086631	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72337	104086631	29765264	6930	12038										
STAB2	55576	hgsc.bcm.edu	37	chr12	104089586	104089586	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccaaacaacaatgccatCgagaattacatcagggagaa	8	10	1	2	rs17034395	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104089586C>T	ENST00000388887.2	+	33	3750	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAATGCCATCGAGAATTACA	0.403													.|||	380	0.0758786	0.2269	0.0231	5008	,	,		24489	0.0		0.0	False		,,,				2504	0.0654				p.I1182I		Atlas-SNP	.											.	STAB2	370	.	0			c.C3546T						PASS	.	C		855,3551	335.5+/-303.9	98,659,1446	112	110	110		3546	-1.1	1	12	dbSNP_123	110	19,8581	12.6+/-44.7	0,19,4281	no	coding-synonymous	STAB2	NM_017564.9		98,678,5727	TT,TC,CC		0.2209,19.4054,6.72		1182/2552	104089586	874,12132	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon33			TGCCATCGAGAAT	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3546C>T	12.37:g.104089586C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	123	52	0.422764	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			C|0.930;T|0.070	0.070	strong		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104089586	C	T	104089586	2	4	22	1	0	0	0	0	0	0	0	1	15237	874	31	1		1	STAB2	12	104089586	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2955	104089586	29762309	6931	12039										
STAB2	55576	hgsc.bcm.edu	37	chr12	104123911	104123911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcacggtgtatataaaCaataaggctaagatcatatc	8	7	1	2	rs10778281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104123911C>T	ENST00000388887.2	+	49	5304	c.5100C>T	c.(5098-5100)aaC>aaT	p.N1700N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTATATAAACAATAAGGCTA	0.338													T|||	1424	0.284345	0.6702	0.2522	5008	,	,		17391	0.0367		0.1511	False		,,,				2504	0.1779				p.N1700N		Atlas-SNP	.											.	STAB2	370	.	0			c.C5100T						PASS	.	T		2627,1779	525.4+/-371.6	785,1057,361	120	140	134		5100	3.4	1	12	dbSNP_120	134	1197,7403	763.6+/-407.6	76,1045,3179	no	coding-synonymous	STAB2	NM_017564.9		861,2102,3540	TT,TC,CC		13.9186,40.3768,29.4018		1700/2552	104123911	3824,9182	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon49			TATAAACAATAAG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5100C>T	12.37:g.104123911C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	57	28	0.491228	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			C|0.717;T|0.283	0.283	strong		0.338	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104123911	C	T	104123911	2	4	22	1	0	0	0	0	0	0	0	1	15237	477	17	2		2	STAB2	12	104123911	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34325	104123911	29727984	6932	12040										
NT5DC3	51559	hgsc.bcm.edu	37	chr12	104171742	104171742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatagttcaggaggcagctCagagacgccatgtagatgtc	12	9	3	2	rs17034524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104171742C>T	ENST00000392876.3	-	14	1552	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	504						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L429L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGAGGCAGCTCAGAGACGCCA	0.587													C|||	1124	0.224441	0.087	0.2104	5008	,	,		15043	0.4375		0.1829	False		,,,				2504	0.2434				p.L504L		Atlas-SNP	.											NT5DC3,NS,carcinoma,0,1	NT5DC3	113	1	1	Substitution - coding silent(1)	stomach(1)	c.G1512A						PASS	.	C		419,3987	206.2+/-227.9	23,373,1807	78	79	78		1512	3.9	1	12	dbSNP_123	78	1453,7147	278.3+/-293.3	119,1215,2966	no	coding-synonymous	NT5DC3	NM_001031701.2		142,1588,4773	TT,TC,CC		16.8953,9.5098,14.3934		504/549	104171742	1872,11134	2203	4300	6503	SO:0001819	synonymous_variant	51559	exon14			GCAGCTCAGAGAC	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1512G>A	12.37:g.104171742C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	158	72	0.455696	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																			C|0.815;T|0.185	0.185	strong		0.587	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		T	104171742	C	T	104171742	2	4	22	1	0	0	0	0	0	0	0	1	10692	813	29	2		2	NT5DC3	12	104171742	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47831	104171742	29680153	6933	12041										
NT5DC3	51559	hgsc.bcm.edu	37	chr12	104186995	104186995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgaacaatgaccacatcGaacaggtccctccagtcttt	7	14	1	2	rs61748068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104186995G>A	ENST00000392876.3	-	9	1006	c.966C>T	c.(964-966)ttC>ttT	p.F322F		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	322						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGACCACATCGAACAGGTCCC	0.423													G|||	561	0.112021	0.0038	0.1585	5008	,	,		21006	0.2639		0.0974	False		,,,				2504	0.0838				p.F322F		Atlas-SNP	.											.	NT5DC3	113	.	0			c.C966T						PASS	.	G		97,4309	80.4+/-118.8	0,97,2106	196	205	202		966	-3.5	0.9	12	dbSNP_129	202	842,7758	194.1+/-239.6	49,744,3507	no	coding-synonymous	NT5DC3	NM_001031701.2		49,841,5613	AA,AG,GG		9.7907,2.2015,7.2197		322/549	104186995	939,12067	2203	4300	6503	SO:0001819	synonymous_variant	51559	exon9			CACATCGAACAGG	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.966C>T	12.37:g.104186995G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	224	100	0.446429	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																			G|0.908;A|0.092	0.092	strong		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104186995	G	A	104186995	2	1	22	1	0	0	0	0	0	0	0	1	10692	1049	37	1		1	NT5DC3	12	104186995	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15253	104186995	29664900	6934	12042										
TDG	6996	hgsc.bcm.edu	37	chr12	104376693	104376693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggaaaggaccacgcccGgcagcaaagatctctccagg	13	12	1	1	rs4135113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104376693G>A	ENST00000392872.3	+	5	829	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	TDG_ENST00000544861.1_Missense_Mutation_p.G56S|TDG_ENST00000542036.1_Silent_p.P22P|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000266775.9_Missense_Mutation_p.G195S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	199			G -> S (in dbSNP:rs4135113). {ECO:0000269|Ref.2}.		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)		GACCACGCCCGGCAGCAAAGA	0.468								Base excision repair (BER), DNA glycosylases					G|||	507	0.101238	0.2005	0.0706	5008	,	,		17924	0.1399		0.0368	False		,,,				2504	0.0153				p.G199S		Atlas-SNP	.											.	TDG	43	.	0			c.G595A						PASS	.	G	SER/GLY	721,3685	292.4+/-282.0	43,635,1525	89	85	86		595	4.5	1	12	dbSNP_108	86	204,8396	88.4+/-150.7	2,200,4098	yes	missense	TDG	NM_003211.4	56	45,835,5623	AA,AG,GG		2.3721,16.364,7.1121	benign	199/411	104376693	925,12081	2203	4300	6503	SO:0001583	missense	6996	exon5			ACGCCCGGCAGCA	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.595G>A	12.37:g.104376693G>A	ENSP00000376611:p.Gly199Ser	Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	336	144	0.428571	NM_003211	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	228	0.1043956043956044	78	0.15853658536585366	26	0.0718232044198895	96	0.16783216783216784	28	0.036939313984168866	G	16.23	3.065256	0.55432	0.16364	0.023721	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.4	4.51	0.55191	Uracil-DNA glycosylase-like (3);	0.050795	0.85682	N	0.000000	T	0.00109	0.0003	L	0.28115	0.83	0.09310	P	1.0	P;B	0.46142	0.873;0.432	P;B	0.45167	0.472;0.256	T	0.06127	-1.0844	9	0.32370	T	0.25	-18.5352	14.391	0.66978	0.0713:0.0:0.9287:0.0	rs4135113;rs52816514;rs58847150;rs4135113	199;199	B2R848;Q13569	.;TDG_HUMAN	S	199;195;56;192	ENSP00000376611:G199S;ENSP00000266775:G195S;ENSP00000445899:G56S;ENSP00000439825:G192S	ENSP00000266775:G195S	G	+	1	0	TDG	102900823	1.000000	0.71417	0.977000	0.42913	0.597000	0.36814	6.743000	0.74848	1.280000	0.44463	-0.222000	0.12452	GGC	G|0.911;A|0.089	0.089	strong		0.468	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104376693	G	A	104376693	3	1	22	1	0	0	0	0	1	0	0	0	15722	1116	39	1	613	1	TDG	12	104376693	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	189698	104376693	29475202	6935	12043										
EID3	493861	hgsc.bcm.edu	37	chr12	104698265	104698265	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgttctgcaccaaagcccCgacttgaacaccagaaaaaa	6	13	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:104698265C>T	ENST00000527879.1	+	1	749	c.553C>T	c.(553-555)Cga>Tga	p.R185*	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACCAAAGCCCCGACTTGAACA	0.428																																					p.R185X		Atlas-SNP	.											EID3,rectum,carcinoma,-1,2	EID3	28	2	0			c.C553T						scavenged	.						123	121	122					12																	104698265		1894	4117	6011	SO:0001587	stop_gained	493861	exon1			AAGCCCCGACTTG	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.553C>T	12.37:g.104698265C>T	ENSP00000435619:p.Arg185*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	68	2	0.0294118	NM_001008394		Nonsense_Mutation	SNP	ENST00000527879.1	37	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215137	0.95104	.	.	ENSG00000255150	ENST00000527879	.	.	.	4.94	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1803	0.37138	0.0:0.902:0.0:0.098	.	.	.	.	X	185	.	ENSP00000435619:R185X	R	+	1	2	EID3	103222395	0.421000	0.25465	0.017000	0.16124	0.228000	0.25075	1.104000	0.31074	1.469000	0.48083	0.555000	0.69702	CGA	.	.	none		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		T	104698265	C	T	104698265	4	4	22	1	0	0	0	0	0	1	0	0	4989	644	23	1	555	1	EID3	12	104698265	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	321572	104698265	29153630	6936	12044										
ALDH1L2	160428	hgsc.bcm.edu	37	chr12	105433523	105433523	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttgccaataggagtggaTccagtgaaaccaagtttgcg	12	7	0	1	rs4964317	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:105433523T>A	ENST00000258494.9	-	17	2153	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	671	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TAGGAGTGGATCCAGTGAAAC	0.383													A|||	1555	0.310503	0.1596	0.2622	5008	,	,		19147	0.2619		0.3748	False		,,,				2504	0.5327				p.G671G		Atlas-SNP	.											.	ALDH1L2	71	.	0			c.A2013T						PASS	.	A		858,3548	745.0+/-411.6	74,710,1419	173	158	163		2013	-10.3	0.1	12	dbSNP_111	163	3279,5321	647.4+/-400.4	623,2033,1644	no	coding-synonymous	ALDH1L2	NM_001034173.3		697,2743,3063	AA,AT,TT		38.1279,19.4734,31.8084		671/924	105433523	4137,8869	2203	4300	6503	SO:0001819	synonymous_variant	160428	exon17			AGTGGATCCAGTG	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2013A>T	12.37:g.105433523T>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	147	85	0.578231	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																			T|0.687;A|0.313	0.313	strong		0.383	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		A	105433523	T	A	105433523	2	1	22	1	0	0	0	0	0	0	0	1	495	1422	50	5		5	ALDH1L2	12	105433523	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	735258	105433523	28418372	6937	12045										
ALDH1L2	160428	hgsc.bcm.edu	37	chr12	105434467	105434467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcaaagcagtcaagggCgtgacctgaggagaagcaaa	12	8	2	3	rs11112330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:105434467C>T	ENST00000258494.9	-	16	2009	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	623	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.T623T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CAGTCAAGGGCGTGACCTGAG	0.483													C|||	1527	0.304912	0.1384	0.2622	5008	,	,		17193	0.2619		0.3748	False		,,,				2504	0.5327				p.T623T		Atlas-SNP	.											ALDH1L2,NS,carcinoma,0,1	ALDH1L2	71	1	1	Substitution - coding silent(1)	stomach(1)	c.G1869A						PASS	.	C		759,3647	309.7+/-291.2	57,645,1501	209	203	205		1869	-5	0.9	12	dbSNP_120	205	3278,5322	491.9+/-373.2	622,2034,1644	no	coding-synonymous	ALDH1L2	NM_001034173.3		679,2679,3145	TT,TC,CC		38.1163,17.2265,31.0395		623/924	105434467	4037,8969	2203	4300	6503	SO:0001819	synonymous_variant	160428	exon16			CAAGGGCGTGACC	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1869G>A	12.37:g.105434467C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	95	52	0.547368	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																			C|0.698;T|0.302	0.302	strong		0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		T	105434467	C	T	105434467	2	4	22	1	0	0	0	0	0	0	0	1	495	755	27	1		1	ALDH1L2	12	105434467	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	944	105434467	28417428	6938	12046										
RFX4	5992	hgsc.bcm.edu	37	chr12	107114548	107114548	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgtaggtggctgccaaGagacaagggtccttgaagaa	13	7	1	3	rs73391388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:107114548G>A	ENST00000392842.1	+	13	1659	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Silent_p.K424K|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.K321K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	415	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGGCTGCCAAGAGACAAGGGT	0.493													G|||	53	0.0105831	0.0378	0.0043	5008	,	,		20153	0.0		0.0	False		,,,				2504	0.0				p.K424K		Atlas-SNP	.											.	RFX4	218	.	0			c.G1272A						PASS	.	G	,,	175,4231	115.4+/-153.4	2,171,2030	89	81	84		1272,963,1245	5.6	1	12	dbSNP_130	84	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	,,	2,178,6323	AA,AG,GG		0.0814,3.9719,1.3994	,,	424/745,321/642,415/736	107114548	182,12824	2203	4300	6503	SO:0001819	synonymous_variant	5992	exon13			TGCCAAGAGACAA	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1245G>A	12.37:g.107114548G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	156	66	0.423077	NM_001206691	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																			G|0.988;A|0.012	0.012	strong		0.493	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		A	107114548	G	A	107114548	2	1	22	1	0	0	0	0	0	0	0	1	13265	933	33	2		2	RFX4	12	107114548	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1680081	107114548	26737347	6939	12047										
CRY1	1407	hgsc.bcm.edu	37	chr12	107395106	107395106	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaagtgcttcagtttctccAcctggccacactgcagagga	10	12	2	1	rs8192440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:107395106A>G	ENST00000008527.5	-	5	1503	c.636T>C	c.(634-636)ggT>ggC	p.G212G		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	212					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CAGTTTCTCCACCTGGCCACA	0.348													G|||	3955	0.789736	0.857	0.7579	5008	,	,		17073	0.9554		0.6282	False		,,,				2504	0.7168				p.G212G		Atlas-SNP	.											CRY1,NS,carcinoma,-2,1	CRY1	74	1	0			c.T636C						PASS	.	G		3618,788	316.3+/-294.6	1494,630,79	100	103	102		636	-11.4	0.7	12	dbSNP_117	102	5367,3233	486.6+/-371.9	1642,2083,575	no	coding-synonymous	CRY1	NM_004075.3		3136,2713,654	GG,GA,AA		37.593,17.8847,30.9165		212/587	107395106	8985,4021	2203	4300	6503	SO:0001819	synonymous_variant	1407	exon5			TTCTCCACCTGGC	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.636T>C	12.37:g.107395106A>G		Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	267	128	0.479401	NM_004075		Silent	SNP	ENST00000008527.5	37	CCDS9112.1																																																																																			A|0.264;G|0.736	0.736	strong		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		G	107395106	A	G	107395106	2	3	22	1	0	0	0	0	0	0	0	1	3903	146	6	2		2	CRY1	12	107395106	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	280558	107395106	26456789	6940	12048										
BTBD11	121551	hgsc.bcm.edu	37	chr12	107712880	107712880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggagctgctggccgcctCtagctgactccatgcacagc	13	15	1	1	rs10082935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:107712880C>T	ENST00000280758.5	+	1	691	c.163C>T	c.(163-165)Cta>Tta	p.L55L	BTBD11_ENST00000420571.2_Silent_p.L55L|BTBD11_ENST00000490090.2_Silent_p.L55L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	55						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGGCCGCCTCTAGCTGACTC	0.647													C|||	493	0.0984425	0.0484	0.1758	5008	,	,		12283	0.0		0.1799	False		,,,				2504	0.1288				p.L55L		Atlas-SNP	.											.	BTBD11	122	.	0			c.C163T						PASS	.	C		316,4090		9,298,1896	29	30	30		163	4	1	12	dbSNP_119	30	1585,7009		143,1299,2855	no	coding-synonymous	BTBD11	NM_001018072.1		152,1597,4751	TT,TC,CC		18.4431,7.172,14.6231		55/1105	107712880	1901,11099	2203	4297	6500	SO:0001819	synonymous_variant	121551	exon1			CCGCCTCTAGCTG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.163C>T	12.37:g.107712880C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	57	27	0.473684	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																			C|0.868;T|0.132	0.132	strong		0.647	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	107712880	C	T	107712880	2	4	22	1	0	0	0	0	0	0	0	1	1539	912	32	2		2	BTBD11	12	107712880	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	317774	107712880	26139015	6941	12049										
BTBD11	121551	hgsc.bcm.edu	37	chr12	107937768	107937768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcaatgccaagcaccacGgcaatggcacccccctgcac	7	20	1	0	rs1558781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:107937768G>A	ENST00000280758.5	+	3	1870	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	BTBD11_ENST00000490090.2_Missense_Mutation_p.G448S|BTBD11_ENST00000420571.2_Missense_Mutation_p.G448S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	448			G -> S (in dbSNP:rs1558781).			integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCACCACGGCAATGGCAC	0.572													G|||	883	0.176318	0.1891	0.2637	5008	,	,		17911	0.2579		0.1014	False		,,,				2504	0.09				p.G448S		Atlas-SNP	.											BTBD11,NS,carcinoma,-1,2	BTBD11	122	2	0			c.G1342A						PASS	.	G	SER/GLY	897,3509	348.0+/-309.7	109,679,1415	49	44	46		1342	4.9	0.9	12	dbSNP_88	46	1012,7588	217.6+/-256.2	56,900,3344	yes	missense	BTBD11	NM_001018072.1	56	165,1579,4759	AA,AG,GG		11.7674,20.3586,14.6778	benign	448/1105	107937768	1909,11097	2203	4300	6503	SO:0001583	missense	121551	exon3			CACCACGGCAATG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1342G>A	12.37:g.107937768G>A	ENSP00000280758:p.Gly448Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	396	0.1813186813186813	84	0.17073170731707318	79	0.21823204419889503	158	0.2762237762237762	75	0.09894459102902374	G	15.23	2.771922	0.49680	0.203586	0.117674	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.76	4.87	0.63330	.	0.154372	0.64402	D	0.000017	T	0.00012	0.0000	N	0.16266	0.395	0.09310	P	0.9999999999999999	B;B;P	0.52316	0.179;0.064;0.952	B;B;B	0.39185	0.024;0.007;0.293	T	0.36720	-0.9736	9	0.25106	T	0.35	.	12.0181	0.53326	0.1384:0.0:0.8616:0.0	rs1558781;rs1558781	448;448;448	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	S	448;448;448;79;82	ENSP00000280758:G448S;ENSP00000413889:G448S;ENSP00000447319:G448S;ENSP00000447606:G79S;ENSP00000407416:G82S	ENSP00000280758:G448S	G	+	1	0	BTBD11	106461898	1.000000	0.71417	0.933000	0.37362	0.988000	0.76386	4.346000	0.59367	1.438000	0.47492	-0.137000	0.14449	GGC	G|0.845;A|0.155	0.155	strong		0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	107937768	G	A	107937768	3	1	22	1	0	0	0	0	1	0	0	0	1539	1116	39	1	1352	1	BTBD11	12	107937768	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224888	107937768	25914127	6942	12050										
CMKLR1	1240	hgsc.bcm.edu	37	chr12	108686008	108686008	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggttgcgctgcagtttgcaCacgatggtgaggtagcaagc	15	9	0	1	rs1057401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:108686008C>G	ENST00000312143.7	-	3	1095	c.732G>C	c.(730-732)gtG>gtC	p.V244V	CMKLR1_ENST00000412676.1_Silent_p.V244V|CMKLR1_ENST00000552995.1_Silent_p.V242V|CMKLR1_ENST00000397688.2_Silent_p.V242V|CMKLR1_ENST00000550402.1_Silent_p.V244V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	244					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCAGTTTGCACACGATGGTGA	0.552													G|||	1855	0.370407	0.6513	0.3156	5008	,	,		21024	0.0119		0.4473	False		,,,				2504	0.32				p.V244V		Atlas-SNP	.											CMKLR1,NS,carcinoma,-2,1	CMKLR1	67	1	0			c.G732C						PASS	.		,,,	2563,1707		803,957,375	69	76	74		732,732,732,726	4.5	1	12	dbSNP_86	74	3973,4507		948,2077,1215	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CMKLR1	NM_001142343.1,NM_001142344.1,NM_001142345.1,NM_004072.2	,,,	1751,3034,1590	GG,GC,CC		46.8514,39.9766,48.7373	,,,	244/374,244/374,244/374,242/372	108686008	6536,6214	2135	4240	6375	SO:0001819	synonymous_variant	1240	exon3			TTTGCACACGATG	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.732G>C	12.37:g.108686008C>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_001142344	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	CCDS44965.1																																																																																			C|0.627;G|0.373	0.373	strong		0.552	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			G	108686008	C	G	108686008	2	3	22	1	0	0	0	0	0	0	0	1	3579	465	17	4		4	CMKLR1	12	108686008	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	748240	108686008	25165887	6943	12051										
SELPLG	6404	hgsc.bcm.edu	37	chr12	109017651	109017680	+	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctctgtggctgccagtgGagtggtctgtgcctccgtgg					rs200527674|rs540144714|rs368721402|rs63748999|rs372173288|rs201851784|rs377406736|rs200694582|rs200732108|rs199985195|rs558357966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENST00000550948.1	-	2	628_657	c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	c.(403-435)caaccagtgcccacggaggcacagaccactcca>cca	p.QPVPTEAQTT135del	SELPLG_ENST00000228463.6_In_Frame_Del_p.QPVPTEAQTT151del|SELPLG_ENST00000388962.3_Splice_Site_p.NQCPR131del			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Q135P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGTGCCTCCGTGGGCACTGGTTGAGTGGTCTG	0.617														558	0.111422	0.0817	0.0879	5008	,	,		27757	0.13		0.0835	False		,,,				2504	0.1779				p.151_161del		Pindel	.											.	SELPLG	138	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.453_482del						PASS	.		,	500,3762		33,434,1664					,	-2	0		dbSNP_129	146	1398,6854		132,1134,2860	no	coding,coding	SELPLG	NM_003006.4,NM_001206609.1	,	165,1568,4524	A1A1,A1R,RR		16.9413,11.7316,15.167	,	,		1898,10616				SO:0001651	inframe_deletion	6404	exon2			.		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	12.37:g.109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENSP00000447752:p.Gln135_Thr144del	Somatic	305	.	.		WXS	Illumina HiSeq	Phase_I	279	48	0.172	NM_001206609	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	In_Frame_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																			.	.	none		0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			-	109017680	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	109017651	7	5	22	1	0	1	0	1	0	0	0	0	14020	1174	41	0	809	0	SELPLG	12	109017651	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	TCGA-G8-6324-01A-11D-2210-10	331643	109017651	24834244	6944	12052										
ACACB	32	hgsc.bcm.edu	37	chr12	109577465	109577465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaaggccccaaagatgcCggtcggcggagaaactccct	11	14	0	2	rs11065655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109577465C>T	ENST00000338432.7	+	2	374	c.255C>T	c.(253-255)gcC>gcT	p.A85A	ACACB_ENST00000377848.3_Silent_p.A85A|ACACB_ENST00000377854.5_Silent_p.A85A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	85					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAAAGATGCCGGTCGGCGGA	0.622													C|||	335	0.066893	0.233	0.0259	5008	,	,		14762	0.0		0.002	False		,,,				2504	0.0072				p.A85A		Atlas-SNP	.											.	ACACB	330	.	0			c.C255T						PASS	.	C		885,3521	338.4+/-305.3	86,713,1404	52	61	58		255	0.2	0	12	dbSNP_120	58	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	ACACB	NM_001093.3		86,720,5697	TT,TC,CC		0.0814,20.0862,6.8584		85/2459	109577465	892,12114	2203	4300	6503	SO:0001819	synonymous_variant	32	exon1			AGATGCCGGTCGG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.255C>T	12.37:g.109577465C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	95	57	0.6	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																			C|0.936;T|0.064	0.064	strong		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109577465	C	T	109577465	2	4	22	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109577465	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	559814	109577465	24274430	6945	12053										
ACACB	32	hgsc.bcm.edu	37	chr12	109617728	109617728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtttcttcacagtgtgccAtccgcctggccaagaccgtg	10	14	2	1	rs16940029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109617728A>G	ENST00000338432.7	+	11	1773	c.1654A>G	c.(1654-1656)Atc>Gtc	p.I552V	ACACB_ENST00000377848.3_Missense_Mutation_p.I552V|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.I552V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	552	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.		I -> V (in dbSNP:rs16940029).		acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACAGTGTGCCATCCGCCTGGC	0.512													G|||	395	0.0788738	0.2375	0.0403	5008	,	,		18543	0.0179		0.0239	False		,,,				2504	0.0112				p.I552V		Atlas-SNP	.											.	ACACB	330	.	0			c.A1654G						PASS	.	G	VAL/ILE	909,3497	739.8+/-411.1	96,717,1390	80	69	73		1654	4.9	0.9	12	dbSNP_123	73	154,8446	812.4+/-407.1	0,154,4146	yes	missense	ACACB	NM_001093.3	29	96,871,5536	GG,GA,AA		1.7907,20.631,8.1732	benign	552/2459	109617728	1063,11943	2203	4300	6503	SO:0001583	missense	32	exon10			TGTGCCATCCGCC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1654A>G	12.37:g.109617728A>G	ENSP00000341044:p.Ile552Val	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	211	110	0.521327	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	170	0.07783882783882784	129	0.2621951219512195	11	0.03038674033149171	13	0.022727272727272728	17	0.022427440633245383	G	4.992	0.184305	0.09495	0.20631	0.017907	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96802	-4.13;-4.13;-4.13	4.86	4.86	0.63082	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	N	0.000000	T	0.00039	0.0001	N	0.00419	-1.52	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.50816	-0.8783	9	0.02654	T	1	.	13.3307	0.60485	0.077:0.0:0.923:0.0	rs16940029;rs17848853;rs60034155;rs16940029	552	O00763	ACACB_HUMAN	V	552	ENSP00000341044:I552V;ENSP00000367079:I552V;ENSP00000367085:I552V	ENSP00000341044:I552V	I	+	1	0	ACACB	108102111	1.000000	0.71417	0.950000	0.38849	0.515000	0.34225	6.663000	0.74431	1.049000	0.40321	-0.119000	0.15052	ATC	A|0.917;G|0.083	0.083	strong		0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109617728	A	G	109617728	3	3	22	1	0	0	0	0	1	0	0	0	107	217	8	2	1692	2	ACACB	12	109617728	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40263	109617728	24234167	6946	12054										
ACACB	32	hgsc.bcm.edu	37	chr12	109629457	109629457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaactgtccatccgaggCgactttaggactaccgtgga	12	10	0	0	rs7135947	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109629457C>T	ENST00000338432.7	+	14	2303	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G	ACACB_ENST00000377848.3_Silent_p.G728G|ACACB_ENST00000377854.5_Silent_p.G728G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	728	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCATCCGAGGCGACTTTAGGA	0.493													C|||	1910	0.38139	0.2231	0.5677	5008	,	,		21807	0.2589		0.5666	False		,,,				2504	0.3988				p.G728G		Atlas-SNP	.											.	ACACB	330	.	0			c.C2184T						PASS	.	C		1173,3233	413.3+/-336.4	155,863,1185	174	157	163		2184	-10.7	0	12	dbSNP_116	163	4615,3985	600.8+/-394.3	1245,2125,930	no	coding-synonymous	ACACB	NM_001093.3		1400,2988,2115	TT,TC,CC		46.3372,26.6228,44.5025		728/2459	109629457	5788,7218	2203	4300	6503	SO:0001819	synonymous_variant	32	exon13			CCGAGGCGACTTT	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2184C>T	12.37:g.109629457C>T		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	268	141	0.526119	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																			C|0.587;T|0.413	0.413	strong		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109629457	C	T	109629457	2	4	22	1	0	0	0	0	0	0	0	1	107	755	27	1		1	ACACB	12	109629457	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11729	109629457	24222438	6947	12055										
ACACB	32	hgsc.bcm.edu	37	chr12	109637234	109637234	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attaccatcggcaataagacGtgtgtgtttgagaaggagaa	12	5	0	3	rs73398054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109637234G>T	ENST00000338432.7	+	18	2774	c.2655G>T	c.(2653-2655)acG>acT	p.T885T	ACACB_ENST00000377854.5_Silent_p.T885T|ACACB_ENST00000377848.3_Silent_p.T885T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCAATAAGACGTGTGTGTTTG	0.552													G|||	34	0.00678914	0.0234	0.0043	5008	,	,		18076	0.0		0.0	False		,,,				2504	0.0				p.T885T		Atlas-SNP	.											.	ACACB	330	.	0			c.G2655T						PASS	.						146	131	136					12																	109637234		2203	4300	6503	SO:0001819	synonymous_variant	32	exon17			TAAGACGTGTGTG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2655G>T	12.37:g.109637234G>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	96	46	0.479167	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																			A|0.006;G|0.992;T|0.002	0.002	strong		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109637234	G	T	109637234	2	4	22	1	0	0	0	0	0	0	0	1	107	1132	40	4		4	ACACB	12	109637234	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7777	109637234	24214661	6948	12056										
ACACB	32	hgsc.bcm.edu	37	chr12	109644616	109644616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctggaaaacctcaccaaCgtcatgagtggcttttgtct	9	11	3	1	rs17848814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109644616C>T	ENST00000338432.7	+	20	3134	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	ACACB_ENST00000377854.5_Silent_p.N1005N|ACACB_ENST00000377848.3_Silent_p.N1005N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1005					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.N1005N(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACCTCACCAACGTCATGAGTG	0.542													C|||	450	0.0898562	0.289	0.0432	5008	,	,		16239	0.0099		0.0258	False		,,,				2504	0.002				p.N1005N		Atlas-SNP	.											ACACB,NS,carcinoma,0,1	ACACB	330	1	1	Substitution - coding silent(1)	stomach(1)	c.C3015T						scavenged	.	C		1078,3328	391.2+/-328.0	119,840,1244	145	136	139		3015	-4.6	0.4	12	dbSNP_123	139	138,8462	69.0+/-131.5	0,138,4162	no	coding-synonymous	ACACB	NM_001093.3		119,978,5406	TT,TC,CC		1.6047,24.4666,9.3495		1005/2459	109644616	1216,11790	2203	4300	6503	SO:0001819	synonymous_variant	32	exon19			CACCAACGTCATG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3015C>T	12.37:g.109644616C>T		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	178	87	0.488764	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																			C|0.914;T|0.086	0.086	strong		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109644616	C	T	109644616	2	4	22	1	0	0	0	0	0	0	0	1	107	535	19	1		1	ACACB	12	109644616	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7382	109644616	24207279	6949	12057										
ACACB	32	hgsc.bcm.edu	37	chr12	109693982	109693982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcggattctttgaccaCggcagtttcaaggaaatcat	10	9	3	2	rs3742023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109693982C>T	ENST00000338432.7	+	45	6323	c.6204C>T	c.(6202-6204)caC>caT	p.H2068H	ACACB_ENST00000377848.3_Silent_p.H2068H|ACACB_ENST00000377854.5_Silent_p.H1998H|ACACB_ENST00000543201.1_Silent_p.H734H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2068	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCTTTGACCACGGCAGTTTCA	0.607													C|||	1278	0.255192	0.1241	0.2709	5008	,	,		17499	0.2817		0.3777	False		,,,				2504	0.2679				p.H2068H		Atlas-SNP	.											.	ACACB	330	.	0			c.C6204T						PASS	.	C		675,3731	284.9+/-277.9	58,559,1586	72	66	68		6204	-3.5	0.9	12	dbSNP_107	68	3088,5512	473.1+/-368.5	550,1988,1762	no	coding-synonymous	ACACB	NM_001093.3		608,2547,3348	TT,TC,CC		35.907,15.32,28.9328		2068/2459	109693982	3763,9243	2203	4300	6503	SO:0001819	synonymous_variant	32	exon44			TGACCACGGCAGT	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6204C>T	12.37:g.109693982C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	176	90	0.511364	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																			C|0.719;T|0.281	0.281	strong		0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109693982	C	T	109693982	2	4	22	1	0	0	0	0	0	0	0	1	107	535	19	1		1	ACACB	12	109693982	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49366	109693982	24157913	6950	12058										
FOXN4	121643	hgsc.bcm.edu	37	chr12	109717697	109717697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggcgcccagtgtgtccaAgctgaatccctcatccttca	8	14	2	1	rs10774641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:109717697A>G	ENST00000299162.5	-	10	1437	c.1333T>C	c.(1333-1335)Ttg>Ctg	p.L445L	FOXN4_ENST00000355216.1_Silent_p.L265L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	445					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						AGTGTGTCCAAGCTGAATCCC	0.577													A|||	1505	0.300519	0.1467	0.3401	5008	,	,		17925	0.2857		0.4901	False		,,,				2504	0.3006				p.L445L		Atlas-SNP	.											.	FOXN4	74	.	0			c.T1333C						PASS	.	A		797,3609	319.1+/-295.9	77,643,1483	96	74	82		1333	3	1	12	dbSNP_120	82	3984,4616	550.4+/-385.7	909,2166,1225	no	coding-synonymous	FOXN4	NM_213596.2		986,2809,2708	GG,GA,AA		46.3256,18.089,36.76		445/518	109717697	4781,8225	2203	4300	6503	SO:0001819	synonymous_variant	121643	exon10			TGTCCAAGCTGAA	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1333T>C	12.37:g.109717697A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	56	32	0.571429	NM_213596	Q6ZMR4|Q96NZ0	Silent	SNP	ENST00000299162.5	37	CCDS9126.2																																																																																			A|0.660;G|0.340	0.340	strong		0.577	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		G	109717697	A	G	109717697	2	3	22	1	0	0	0	0	0	0	0	1	6022	69	3	3		3	FOXN4	12	109717697	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23715	109717697	24134198	6951	12059										
MMAB	326625	hgsc.bcm.edu	37	chr12	110011229	110011229	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcggcgccgaagcacccGcgcaggccaagacggctccc					rs10774774|rs36013132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:110011229G>T	ENST00000545712.2	-	1	450	c.57C>A	c.(55-57)cgC>cgA	p.R19R	MVK_ENST00000539696.1_5'Flank|MMAB_ENST00000266839.5_5'UTR|MVK_ENST00000539575.1_5'Flank|MVK_ENST00000541384.1_5'Flank|MVK_ENST00000228510.3_5'Flank|MVK_ENST00000392727.3_5'Flank|MMAB_ENST00000540016.1_Silent_p.R19R|MVK_ENST00000535044.1_3'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	19			R -> H (in dbSNP:rs10774775).|R -> Q (in dbSNP:rs36013132). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAAGCACCCGCGCAGGCCAA	0.711													G|||	1427	0.284944	0.438	0.2939	5008	,	,		13025	0.1607		0.2853	False		,,,				2504	0.1994				p.R19R		Atlas-SNP	.											.	MMAB	16	.	0			c.C57A						PASS	.	G		1718,2668		356,1006,831	16	17	16		57	2	0.4	12	dbSNP_120	16	2294,6298		372,1550,2374	no	coding-synonymous	MMAB	NM_052845.3		728,2556,3205	TT,TG,GG		26.6993,39.1701,30.9139		19/251	110011229	4012,8966	2193	4296	6489	SO:0001819	synonymous_variant	326625	exon1			GCACCCGCGCAGG	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.57C>A	12.37:g.110011229G>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	78	49	0.628205	NM_052845	C5HU05|Q9BSH0	Silent	SNP	ENST00000545712.2	37	CCDS9131.1																																																																																			.	.	alt		0.711	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110011229	G	T	110011229	2	4	22	1	0	0	0	0	0	0	0	1	9640	1074	38	4		4	MMAB	12	110011229	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	293532	110011229	23840666	6952	12060	249	2								
MMAB	326625	hgsc.bcm.edu	37	chr12	110011230	110011230	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcggcgccgaagcacccgCgcaggccaagacggctcccc					rs10774775|rs36013132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:110011230C>T	ENST00000545712.2	-	1	449	c.56G>A	c.(55-57)cGc>cAc	p.R19H	MVK_ENST00000539696.1_5'Flank|MMAB_ENST00000266839.5_5'UTR|MVK_ENST00000539575.1_5'Flank|MVK_ENST00000541384.1_5'Flank|MVK_ENST00000228510.3_5'Flank|MVK_ENST00000392727.3_5'Flank|MMAB_ENST00000540016.1_Missense_Mutation_p.R19H|MVK_ENST00000535044.1_3'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	19			R -> H (in dbSNP:rs10774775).|R -> Q (in dbSNP:rs36013132). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCACCCGCGCAGGCCAAG	0.716													C|||	1427	0.284944	0.438	0.2939	5008	,	,		12948	0.1607		0.2853	False		,,,				2504	0.1994				p.R19H		Atlas-SNP	.											.	MMAB	16	.	0			c.G56A						PASS	.	C	HIS/ARG	1710,2678		354,1002,838	15	17	16		56	3.9	0.9	12	dbSNP_120	16	2293,6297		369,1555,2371	no	missense	MMAB	NM_052845.3	29	723,2557,3209	TT,TC,CC		26.6938,38.9699,30.8445	probably-damaging	19/251	110011230	4003,8975	2194	4295	6489	SO:0001583	missense	326625	exon1			CACCCGCGCAGGC	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.56G>A	12.37:g.110011230C>T	ENSP00000445920:p.Arg19His	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	77	49	0.636364	NM_052845	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	634	0.2902930402930403	223	0.4532520325203252	112	0.30939226519337015	83	0.1451048951048951	216	0.2849604221635884	C	13.88	2.368378	0.42003	0.389699	0.266938	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.83755	-1.76	4.79	3.89	0.44902	.	0.375104	0.24940	N	0.034391	T	0.00012	0.0000	L	0.29908	0.895	0.09310	P	0.999999808155	D	0.61080	0.989	P	0.47744	0.556	T	0.29458	-1.0011	8	.	.	.	-18.7787	11.184	0.48644	0.0:0.8144:0.1856:0.0	rs10774775	19	Q96EY8	MMAB_HUMAN	H	19	ENSP00000445920:R19H	.	R	-	2	0	MMAB	108495613	0.712000	0.27916	0.852000	0.33557	0.108000	0.19459	1.236000	0.32683	1.351000	0.45789	0.591000	0.81541	CGC	C|0.693;T|0.307	0.307	strong		0.716	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110011230	C	T	110011230	3	4	22	1	0	0	0	0	1	0	0	0	9640	768	27	1	732	1	MMAB	12	110011230	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	110011230	23840665	6953	12061	249	2								
TRPV4	59341	hgsc.bcm.edu	37	chr12	110238481	110238481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgcccacgggcctgggcGtggacatcagctccctgggc	15	15	1	0	rs1344554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:110238481G>A	ENST00000418703.2	-	4	889	c.795C>T	c.(793-795)caC>caT	p.H265H	TRPV4_ENST00000536838.1_Silent_p.H231H|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000346520.2_Silent_p.H265H|TRPV4_ENST00000261740.2_Silent_p.H265H|TRPV4_ENST00000537083.1_Silent_p.H265H|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000541794.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	265					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGCCTGGGCGTGGACATCAG	0.632													G|||	526	0.105032	0.1717	0.0764	5008	,	,		16886	0.0278		0.0447	False		,,,				2504	0.1769				p.H265H		Atlas-SNP	.											.	TRPV4	88	.	0			c.C795T						PASS	.	G	,,,,	677,3729	285.5+/-278.2	58,561,1584	75	61	66		,693,,795,795	-3	1	12	dbSNP_88	66	374,8226	123.2+/-182.1	6,362,3932	no	intron,coding-synonymous,intron,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	64,923,5516	AA,AG,GG		4.3488,15.3654,8.0809	,,,,	,231/838,,265/872,265/812	110238481	1051,11955	2203	4300	6503	SO:0001819	synonymous_variant	59341	exon4			CTGGGCGTGGACA	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.795C>T	12.37:g.110238481G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_147204	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																			G|0.922;A|0.078	0.078	strong		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110238481	G	A	110238481	2	1	22	1	0	0	0	0	0	0	0	1	16595	1136	40	1		1	TRPV4	12	110238481	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	227251	110238481	23613414	6954	12062										
MYL2	4633	hgsc.bcm.edu	37	chr12	111353556	111353556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctcagatcgttcttgtcAatgaagccatccctgttctg	7	12	5	2	rs2301610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:111353556A>G	ENST00000228841.8	-	3	179	c.132T>C	c.(130-132)atT>atC	p.I44I	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGTTCTTGTCAATGAAGCCAT	0.522													G|||	577	0.115216	0.0522	0.0317	5008	,	,		19995	0.2024		0.0895	False		,,,				2504	0.1963				p.I44I	GBM(14;268 426 18829 21617 25540)	Atlas-SNP	.											.	MYL2	31	.	0			c.T132C						PASS	.	G		305,4101	798.8+/-415.5	6,293,1904	248	213	225		132	-1.1	1	12	dbSNP_100	225	689,7911	788.2+/-407.6	25,639,3636	no	coding-synonymous	MYL2	NM_000432.3		31,932,5540	GG,GA,AA		8.0116,6.9224,7.6426		44/167	111353556	994,12012	2203	4300	6503	SO:0001819	synonymous_variant	4633	exon3			CTTGTCAATGAAG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.132T>C	12.37:g.111353556A>G		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	319	147	0.460815	NM_000432	Q16123	Silent	SNP	ENST00000228841.8	37	CCDS31901.1																																																																																			A|0.911;G|0.089	0.089	strong		0.522	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		G	111353556	A	G	111353556	2	3	22	1	0	0	0	0	0	0	0	1	10047	126	5	2		2	MYL2	12	111353556	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1115075	111353556	22498339	6955	12063										
CUX2	23316	hgsc.bcm.edu	37	chr12	111785586	111785586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaacagatggaggaggaTgctgaggaagaggcaggcag	19	5	0	3	rs3803167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:111785586T>C	ENST00000261726.6	+	22	4072	c.3918T>C	c.(3916-3918)gaT>gaC	p.D1306D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1306					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGAGGAGGATGCTGAGGAAG	0.612													C|||	2644	0.527955	0.6195	0.451	5008	,	,		14602	0.7639		0.2435	False		,,,				2504	0.5082				p.D1306D		Atlas-SNP	.											.	CUX2	145	.	0			c.T3918C						PASS	.	C		2298,1986		614,1070,458	47	55	52		3918	-8	0	12	dbSNP_107	52	1843,6617		209,1425,2596	no	coding-synonymous	CUX2	NM_015267.3		823,2495,3054	CC,CT,TT		21.7849,46.3585,32.4937		1306/1487	111785586	4141,8603	2142	4230	6372	SO:0001819	synonymous_variant	23316	exon22			GGAGGATGCTGAG	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3918T>C	12.37:g.111785586T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_015267	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																			T|0.524;C|0.476	0.476	strong		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		C	111785586	T	C	111785586	2	2	22	1	0	0	0	0	0	0	0	1	4065	1461	51	2		2	CUX2	12	111785586	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	432030	111785586	22066309	6956	12064										
BRAP	80724	hgsc.bcm.edu	37	chr12	112121090	112121090	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagtgtcgtcttttttatcTcctcatcagacatttccccg	5	13	4	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:112121090T>C	ENST00000313698.4	+	0	0				ACAD10_ENST00000455480.2_5'Flank|BRAP_ENST00000419234.4_Missense_Mutation_p.E35G|BRAP_ENST00000327551.6_Missense_Mutation_p.E5G|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000392636.2_5'Flank|BRAP_ENST00000539060.1_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTTTTTTATCTCCTCATCAGA	0.423																																					p.E35G		Atlas-SNP	.											BRAP,NS,carcinoma,+1,1	BRAP	42	1	0			c.A104G						scavenged	.						194	170	178					12																	112121090		2203	4300	6503	SO:0001631	upstream_gene_variant	8315	exon2			TTTATCTCCTCAT	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112121090T>C	Exception_encountered	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	233	3	0.0128755	NM_006768	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767532	0.49574	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.49139	0.86;0.79	5.44	3.06	0.35304	.	0.261425	0.38326	N	0.001728	T	0.39572	0.1083	L	0.54323	1.7	0.80722	D	1	B	0.30068	0.267	B	0.25405	0.06	T	0.25641	-1.0126	10	0.87932	D	0	-9.9935	8.4818	0.33047	0.1297:0.0:0.1361:0.7343	.	35	Q7Z569	BRAP_HUMAN	G	35;5	ENSP00000403524:E35G;ENSP00000330813:E5G	ENSP00000330813:E5G	E	-	2	0	BRAP	110605473	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	3.914000	0.56401	0.361000	0.24292	0.402000	0.26972	GAG	.	.	none		0.423	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		C	112121090	T	C	112121090	1	2	22	0	1	0	0	0	0	0	0	0	1497	1551	54	3		3	BRAP	12	112121090	5'Flank	SNP	T	TCGA-G8-6324-01A-11D-2210-10	335504	112121090	21730805	6957	12065										
TMEM116	89894	hgsc.bcm.edu	37	chr12	112375990	112375990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaacaaaggccatttgacAaactcgacaagtataatcta	6	8	1	1	rs3752630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:112375990A>C	ENST00000550831.3	-	5	432	c.64T>G	c.(64-66)Tgt>Ggt	p.C22G	TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000355445.3_Missense_Mutation_p.C79G|TMEM116_ENST00000437003.2_Missense_Mutation_p.C22G|TMEM116_ENST00000552374.2_Missense_Mutation_p.C114G|TMEM116_ENST00000354825.3_Missense_Mutation_p.C22G	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	22			C -> G (in dbSNP:rs3752630).			integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCCATTTGACAAACTCGACAA	0.328													C|||	1126	0.22484	0.3116	0.1383	5008	,	,		17904	0.2728		0.165	False		,,,				2504	0.181				p.C114G		Atlas-SNP	.											.	TMEM116	17	.	0			c.T340G						PASS	.	C	GLY/CYS,GLY/CYS,GLY/CYS	1224,3182		160,904,1139	74	77	76		235,340,64	3.8	0.8	12	dbSNP_107	76	1419,7181		124,1171,3005	yes	missense,missense,missense	TMEM116	NM_001193453.1,NM_001193531.1,NM_138341.2	159,159,159	284,2075,4144	CC,CA,AA		16.5,27.7803,20.3214	benign,benign,benign	79/303,114/338,22/246	112375990	2643,10363	2203	4300	6503	SO:0001583	missense	89894	exon6			TTTGACAAACTCG	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.64T>G	12.37:g.112375990A>C	ENSP00000450377:p.Cys22Gly	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	176	95	0.539773	NM_001193531	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	CCDS9157.1	490	0.22435897435897437	155	0.3150406504065041	57	0.1574585635359116	157	0.2744755244755245	121	0.15963060686015831	N	9.079	0.998886	0.19121	0.277803	0.165	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.65	3.84	0.44239	.	0.212377	0.39985	N	0.001208	T	0.00012	0.0000	N	0.00268	-1.735	0.58432	P	1.999999999946489E-6	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	0.39800	-0.9596	9	0.02654	T	1	-1.49	5.6836	0.17790	0.1556:0.6817:0.0:0.1627	rs3752630;rs57885084;rs3752630	114;79;114;22	F8VNZ8;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	G	79;22;22;22;114;114	ENSP00000347620:C79G;ENSP00000346883:C22G;ENSP00000450377:C22G;ENSP00000395861:C22G;ENSP00000447731:C114G;ENSP00000446516:C114G	ENSP00000346883:C22G	C	-	1	0	TMEM116	110860373	0.997000	0.39634	0.823000	0.32752	0.743000	0.42351	0.422000	0.21296	0.363000	0.24346	-1.207000	0.01640	TGT	A|0.783;C|0.217	0.217	strong		0.328	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		C	112375990	A	C	112375990	3	2	22	1	0	0	0	0	1	0	0	0	16027	130	5	5	697	5	TMEM116	12	112375990	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	254900	112375990	21475905	6958	12066										
NAA25	80018	hgsc.bcm.edu	37	chr12	112471090	112471090	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaagtttaagtgcaattaGatgtgtttcaagccctttaa	7	6	2	1	rs12298022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:112471090G>T	ENST00000261745.4	-	23	2991	c.2743C>A	c.(2743-2745)Cta>Ata	p.L915I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	915			L -> I (in dbSNP:rs12298022).			cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGTGCAATTAGATGTGTTTCA	0.388													g|||	563	0.11242	0.298	0.098	5008	,	,		19040	0.0		0.0706	False		,,,				2504	0.0307				p.L915I		Atlas-SNP	.											.	NAA25	105	.	0			c.C2743A						PASS	.	G	ILE/LEU	1133,3273	404.6+/-333.2	148,837,1218	111	116	114		2743	5	1	12	dbSNP_120	114	629,7971	164.1+/-216.5	22,585,3693	yes	missense	NAA25	NM_024953.3	5	170,1422,4911	TT,TG,GG		7.314,25.7149,13.5476	benign	915/973	112471090	1762,11244	2203	4300	6503	SO:0001583	missense	80018	exon23			CAATTAGATGTGT	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2743C>A	12.37:g.112471090G>T	ENSP00000261745:p.Leu915Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	109	106	0.972477	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	237	0.10851648351648352	147	0.29878048780487804	45	0.12430939226519337	0	0.0	45	0.059366754617414245	G	14.73	2.621707	0.46736	0.257149	0.07314	ENSG00000111300	ENST00000261745	T	0.35421	1.31	5.91	5.01	0.66863	.	0.257811	0.33916	N	0.004423	T	0.00012	0.0000	N	0.19112	0.55	0.26394	P	0.9765313	D	0.52996	0.957	P	0.44696	0.458	T	0.33929	-0.9849	9	0.40728	T	0.16	-2.1641	14.549	0.68052	0.0695:0.0:0.9305:0.0	rs12298022;rs52836486;rs57720948;rs12298022	915	Q14CX7	NAA25_HUMAN	I	915	ENSP00000261745:L915I	ENSP00000261745:L915I	L	-	1	2	NAA25	110955473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.008000	0.49544	2.816000	0.96949	0.644000	0.83932	CTA	G|0.868;T|0.132	0.132	strong		0.388	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		T	112471090	G	T	112471090	3	4	22	1	0	0	0	0	1	0	0	0	10121	933	33	4	183	4	NAA25	12	112471090	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95100	112471090	21380805	6959	12067										
C12orf51	283450	hgsc.bcm.edu	37	chr12	112667675	112667675	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaatgtacatcagtgctcTagacagaacctaaatataga	8	7	2	3	rs1005902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:112667675T>G	ENST00000430131.2	-	40	6225	c.5080A>C	c.(5080-5082)Aga>Cga	p.R1694R	HECTD4_ENST00000550722.1_Silent_p.R1970R|HECTD4_ENST00000377560.5_Silent_p.R1944R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1694					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)										ATCAGTGCTCTAGACAGAACC	0.453													G|||	3146	0.628195	0.8502	0.4078	5008	,	,		21588	0.8899		0.2614	False		,,,				2504	0.592				p.R1982R		Atlas-SNP	.											.	.	.	.	0			c.A5944C						PASS	.	G		2895,969		1091,713,128	59	56	57		5830	6	1	12	dbSNP_86	57	2213,6039		280,1653,2193	yes	coding-synonymous	C12orf51	NM_001109662.2		1371,2366,2321	GG,GT,TT		26.8177,25.0776,42.1591		1944/4247	112667675	5108,7008	1932	4126	6058	SO:0001819	synonymous_variant	283450	exon41			GTGCTCTAGACAG	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.5080A>C	12.37:g.112667675T>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																				T|0.381;G|0.619	0.619	strong		0.453	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		G	112667675	T	G	112667675	2	3	22	1	0	0	0	0	0	0	0	1	1696	1530	53	5		5	C12orf51	12	112667675	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	196585	112667675	21184220	6960	12068										
RPL6	6128	hgsc.bcm.edu	37	chr12	112843105	112843105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagccctggagctgaggaaTagctttgatttttggtaaaa	12	5	0	2	rs141161168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:112843105T>C	ENST00000424576.2	-	7	975	c.790A>G	c.(790-792)Att>Gtt	p.I264V	RPL6_ENST00000202773.9_Missense_Mutation_p.I264V	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	264				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						AGCTGAGGAATAGCTTTGATT	0.363													T|||	3	0.000599042	0.0023	0.0	5008	,	,		18604	0.0		0.0	False		,,,				2504	0.0				p.I264V		Atlas-SNP	.											.	RPL6	20	.	0			c.A790G						PASS	.	T	VAL/ILE,VAL/ILE	12,4366		0,12,2177	20	22	22		790,790	-1.2	0	12	dbSNP_134	22	0,8470		0,0,4235	no	missense,missense	RPL6	NM_000970.3,NM_001024662.1	29,29	0,12,6412	CC,CT,TT		0.0,0.2741,0.0934	benign,benign	264/289,264/289	112843105	12,12836	2189	4235	6424	SO:0001583	missense	6128	exon7			GAGGAATAGCTTT	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.790A>G	12.37:g.112843105T>C	ENSP00000403172:p.Ile264Val	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_001024662	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	CCDS9162.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	4.047	0.006419	0.07866	0.002741	0.0	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.28069	1.63;1.63	5.15	-1.17	0.09648	.	0.242260	0.41294	N	0.000912	T	0.09423	0.0232	N	0.01656	-0.775	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34054	-0.9844	10	0.10902	T	0.67	.	12.53	0.56109	0.0:0.4627:0.0:0.5373	.	264	Q02878	RL6_HUMAN	V	264;264;204	ENSP00000202773:I264V;ENSP00000403172:I264V	ENSP00000202773:I264V	I	-	1	0	RPL6	111327488	0.025000	0.19082	0.010000	0.14722	0.906000	0.53458	0.202000	0.17295	-0.480000	0.06803	-1.431000	0.01090	ATT	T|1.000;C|0.000	0.000	strong		0.363	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			C	112843105	T	C	112843105	3	2	22	1	0	0	0	0	1	0	0	0	13598	1406	49	2	80	2	RPL6	12	112843105	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	175430	112843105	21008790	6961	12069										
RPH3A	22895	hgsc.bcm.edu	37	chr12	113312971	113312971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgccacctcagcctgggcaGccaggtacctgccactcacc	10	19	2	0	rs2189473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113312971G>T	ENST00000389385.4	+	11	1376	c.879G>T	c.(877-879)caG>caT	p.Q293H	RPH3A_ENST00000548866.1_Missense_Mutation_p.Q244H|RPH3A_ENST00000420983.2_Missense_Mutation_p.Q293H|RPH3A_ENST00000543106.2_Missense_Mutation_p.Q293H|RPH3A_ENST00000551052.1_Missense_Mutation_p.Q289H|RPH3A_ENST00000447659.2_Missense_Mutation_p.Q244H|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.Q293H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	293	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGCCTGGGCAGCCAGGTACCT	0.627													G|||	277	0.0553115	0.143	0.0159	5008	,	,		17975	0.0595		0.001	False		,,,				2504	0.0164				p.Q293H		Atlas-SNP	.											.	RPH3A	98	.	0			c.G879T						PASS	.	G	HIS/GLN,HIS/GLN	393,3849		20,353,1748	8	9	9		879,867	2.1	1	12	dbSNP_96	9	31,8293		0,31,4131	yes	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	24,24	20,384,5879	TT,TG,GG		0.3724,9.2645,3.3742	possibly-damaging,possibly-damaging	293/695,289/691	113312971	424,12142	2121	4162	6283	SO:0001583	missense	22895	exon11			TGGGCAGCCAGGT	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.879G>T	12.37:g.113312971G>T	ENSP00000374036:p.Gln293His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	69	41	0.594203	NM_001143854	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	104	0.047619047619047616	68	0.13821138211382114	8	0.022099447513812154	28	0.04895104895104895	0	0.0	G	11.82	1.754151	0.31046	0.092645	0.003724	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.2	2.13	0.27403	.	0.464810	0.17806	N	0.161391	T	0.00440	0.0014	L	0.40543	1.245	0.41476	P	0.011866999999999961	B;B;B;P	0.36315	0.32;0.412;0.412;0.547	B;B;B;B	0.41036	0.264;0.259;0.259;0.346	T	0.08186	-1.0734	9	0.48119	T	0.1	.	5.7825	0.18314	0.2717:0.1571:0.5713:0.0	rs2189473	244;293;293;289	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	293;293;244;289;293;244;293	ENSP00000440384:Q293H;ENSP00000374036:Q293H;ENSP00000413254:Q244H;ENSP00000448297:Q289H;ENSP00000405357:Q293H;ENSP00000450347:Q244H;ENSP00000408889:Q293H	ENSP00000374036:Q293H	Q	+	3	2	RPH3A	111797354	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.152000	0.31663	0.595000	0.29777	0.460000	0.39030	CAG	G|0.954;T|0.046	0.046	strong		0.627	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		T	113312971	G	T	113312971	3	4	22	1	0	0	0	0	1	0	0	0	13551	962	34	4	913	4	RPH3A	12	113312971	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	469866	113312971	20538924	6962	12070										
OAS1	4938	hgsc.bcm.edu	37	chr12	113348870	113348870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaggtcagttgactggcGgctataaacctaacccccaa	9	12	1	1	rs1131454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113348870G>A	ENST00000202917.5	+	3	747	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G162S|OAS1_ENST00000452357.2_Missense_Mutation_p.G162S|OAS1_ENST00000551241.1_Missense_Mutation_p.G162S	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	162			G -> S (in dbSNP:rs1131454). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1651324, ECO:0000269|PubMed:17024523, ECO:0000269|PubMed:2416561, ECO:0000269|PubMed:3753689, ECO:0000269|PubMed:3754863, ECO:0000269|Ref.10, ECO:0000269|Ref.9}.		cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GTTGACTGGCGGCTATAAACC	0.507													G|||	2373	0.473842	0.149	0.6268	5008	,	,		20016	0.5913		0.5746	False		,,,				2504	0.5798				p.G162S		Atlas-SNP	.											.	OAS1	128	.	0			c.G484A	GRCh37	CM060397	OAS1	M	rs1131454	PASS	.	G	SER/GLY,SER/GLY,SER/GLY	1081,3325	391.9+/-328.3	151,779,1273	71	64	67	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	484,484,484	-5.9	0	12	dbSNP_86	67	4868,3732	617.7+/-396.7	1397,2074,829	yes	missense,missense,missense	OAS1	NM_001032409.1,NM_002534.2,NM_016816.2	56,56,56	1548,2853,2102	AA,AG,GG		43.3953,24.5347,45.7404	benign,benign,benign	162/415,162/365,162/401	113348870	5949,7057	2203	4300	6503	SO:0001583	missense	4938	exon3			ACTGGCGGCTATA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.484G>A	12.37:g.113348870G>A	ENSP00000202917:p.Gly162Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_001032409	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	1064	0.48717948717948717	77	0.1565040650406504	210	0.580110497237569	344	0.6013986013986014	433	0.5712401055408971	G	7.616	0.675789	0.14841	0.245347	0.566047	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	4.16	-5.92	0.02261	.	4.278070	0.00481	N	0.000139	T	0.00012	0.0000	L	0.35542	1.07	0.80722	P	0.0	B;B;B;B;B	0.12630	0.002;0.005;0.0;0.006;0.002	B;B;B;B;B	0.14023	0.003;0.004;0.004;0.01;0.004	T	0.41752	-0.9491	9	0.26408	T	0.33	0.0918	4.839	0.13478	0.5189:0.0:0.216:0.2651	rs1131454;rs2070164;rs3191365;rs3741981;rs11543293;rs17413811;rs17834195;rs52812159;rs56435707;rs57921148;rs3741981	162;162;162;162;162	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	S	162;162;162;162;162;158	ENSP00000202917:G162S;ENSP00000388001:G162S;ENSP00000415721:G162S;ENSP00000448790:G162S;ENSP00000448348:G158S	ENSP00000202917:G162S	G	+	1	0	OAS1	111833253	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.338000	0.07842	-1.602000	0.01599	-0.254000	0.11334	GGC	A|0.381;C|0.108;G|0.441;T|0.070	0.381	strong		0.507	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113348870	G	A	113348870	3	1	22	1	0	0	0	0	1	0	0	0	10799	1116	39	1	494	1	OAS1	12	113348870	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35899	113348870	20503025	6963	12071										
OAS1	4938	hgsc.bcm.edu	37	chr12	113357193	113357193	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatgtgtctcaccctttcaGgctgaaagcaacagtgcaga	9	11	3	2	rs10774671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113357193G>A	ENST00000202917.5	+	6	1301		c.e6-1		RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa						cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CACCCTTTCAGGCTGAAAGCA	0.478													G|||	3077	0.614417	0.3601	0.7262	5008	,	,		25437	0.745		0.6481	False		,,,				2504	0.7096				.		Atlas-SNP	.											.	OAS1	128	.	0			c.1039-1G>A	GRCh37	CS051261	OAS1	S	rs10774671	PASS	.	G	,	1917,2489	547.6+/-377.3	420,1077,706	78	78	78	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,	2.9	0.1	12	dbSNP_120	78	5490,3110	657.0+/-401.4	1766,1958,576	yes	intron,splice-3	OAS1	NM_001032409.1,NM_016816.2	,	2186,3035,1282	AA,AG,GG		36.1628,43.5089,43.0494	,	,	113357193	7407,5599	2203	4300	6503	SO:0001630	splice_region_variant	4938	exon6			CTTTCAGGCTGAA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1039-1G>A	12.37:g.113357193G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_016816	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Splice_Site	SNP	ENST00000202917.5	37	CCDS41838.1	1398	0.6401098901098901	203	0.41260162601626016	253	0.6988950276243094	447	0.7814685314685315	495	0.6530343007915568	G	5.040	0.193020	0.09599	0.435089	0.638372	ENSG00000089127	ENST00000202917	.	.	.	2.89	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.31976	P	0.606467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4607	0.38783	0.0:0.0:1.0:0.0	rs10774671;rs57204057;rs10774671	.	.	.	.	-1	.	.	.	+	.	.	OAS1	111841576	0.004000	0.15560	0.099000	0.21106	0.019000	0.09904	0.497000	0.22514	1.927000	0.55829	0.557000	0.71058	.	G|0.396;A|0.604	0.604	strong		0.478	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		Intron	A	113357193	G	A	113357193	5	1	22	1	0	0	0	0	0	0	1	0	10799	1014	35	2	1117	2	OAS1	12	113357193	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8323	113357193	20494702	6964	12072										
OAS1	4938	hgsc.bcm.edu	37	chr12	113357209	113357209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggctgaaagcaacagtGcagacgatgagaccgacgat	12	9	1	3	rs1131476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113357209G>A	ENST00000202917.5	+	6	1317	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	352			A -> T (in dbSNP:rs1131476). {ECO:0000269|PubMed:17024523, ECO:0000269|PubMed:2416561, ECO:0000269|Ref.7}.		cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AAGCAACAGTGCAGACGATGA	0.488													G|||	3945	0.78774	0.9728	0.7954	5008	,	,		25230	0.745		0.6551	False		,,,				2504	0.7127				p.A352T		Atlas-SNP	.											.	OAS1	128	.	0			c.G1054A						PASS	.	G	,THR/ALA	4067,339	795.3+/-415.3	1875,317,11	85	84	84		,1054	-1.4	0	12	dbSNP_86	84	5555,3045	662.1+/-401.9	1809,1937,554	yes	intron,missense	OAS1	NM_001032409.1,NM_016816.2	,58	3684,2254,565	AA,AG,GG		35.407,7.6941,26.0188	,benign	,352/401	113357209	9622,3384	2203	4300	6503	SO:0001583	missense	4938	exon6			AACAGTGCAGACG	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1054G>A	12.37:g.113357209G>A	ENSP00000202917:p.Ala352Thr	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	67	67	1	NM_016816	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	1710	0.782967032967033	483	0.9817073170731707	280	0.7734806629834254	447	0.7814685314685315	500	0.6596306068601583	G	8.157	0.788731	0.16258	0.923059	0.64593	ENSG00000089127	ENST00000202917	T	0.05025	3.51	2.92	-1.38	0.09027	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.09377	0.004	T	0.14615	-1.0466	8	0.18710	T	0.47	.	0.5426	0.00648	0.2483:0.1931:0.3612:0.1975	rs1131476;rs3177979;rs3191419;rs17237660;rs17413825;rs52792411;rs57784701;rs3177979	352	P00973	OAS1_HUMAN	T	352	ENSP00000202917:A352T	ENSP00000202917:A352T	A	+	1	0	OAS1	111841592	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.503000	0.00965	-0.316000	0.08690	0.557000	0.71058	GCA	A|0.746;C|0.000;G|0.253;N|0.000;T|0.000	0.746	strong		0.488	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113357209	G	A	113357209	3	1	22	1	0	0	0	0	1	0	0	0	10799	1319	46	2	1133	2	OAS1	12	113357209	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16	113357209	20494686	6965	12073										
OAS1	4938	hgsc.bcm.edu	37	chr12	113357237	113357237	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagaccgacgatcccaggaGgtatcagaaatatggttaca	11	8	1	2	rs1051042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113357237G>C	ENST00000202917.5	+	6	1345	c.1082G>C	c.(1081-1083)aGg>aCg	p.R361T	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	361			R -> T (in dbSNP:rs1051042). {ECO:0000269|PubMed:17024523, ECO:0000269|PubMed:2416561, ECO:0000269|Ref.7}.		cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GATCCCAGGAGGTATCAGAAA	0.507													G|||	3942	0.787141	0.9728	0.7954	5008	,	,		24573	0.745		0.6521	False		,,,				2504	0.7127				p.R361T		Atlas-SNP	.											.	OAS1	128	.	0			c.G1082C						PASS	.	G	,THR/ARG	4067,339	795.3+/-415.3	1875,317,11	105	101	102		,1082	-4.5	0	12	dbSNP_86	102	5554,3046	662.1+/-401.9	1809,1936,555	yes	intron,missense	OAS1	NM_001032409.1,NM_016816.2	,71	3684,2253,566	CC,CG,GG		35.4186,7.6941,26.0264	,benign	,361/401	113357237	9621,3385	2203	4300	6503	SO:0001583	missense	4938	exon6			CCAGGAGGTATCA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1082G>C	12.37:g.113357237G>C	ENSP00000202917:p.Arg361Thr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_016816	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	1709	0.7825091575091575	483	0.9817073170731707	280	0.7734806629834254	447	0.7814685314685315	499	0.658311345646438	G	1.907	-0.451701	0.04572	0.923059	0.645814	ENSG00000089127	ENST00000202917	T	0.05382	3.45	2.35	-4.47	0.03525	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	8	0.17832	T	0.49	20.7501	1.1302	0.01743	0.1578:0.2658:0.3485:0.2279	rs1051042;rs3168659;rs17237688;rs52806792;rs59618405;rs1051042	361	P00973	OAS1_HUMAN	T	361	ENSP00000202917:R361T	ENSP00000202917:R361T	R	+	2	0	OAS1	111841620	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.899000	0.01600	-1.192000	0.02691	-1.267000	0.01435	AGG	G|0.261;C|0.739	0.739	strong		0.507	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			C	113357237	G	C	113357237	3	2	22	1	0	0	0	0	1	0	0	0	10799	1000	35	4	1161	4	OAS1	12	113357237	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28	113357237	20494658	6966	12074										
OAS1	4938	hgsc.bcm.edu	37	chr12	113357442	113357442	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggactcttgatccagagaGgacaaagctcctcagtgagc	12	10	2	3	rs2660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113357442G>A	ENST00000202917.5	+	0	1550				RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G397R|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa						cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						gatccagagaggacaaagctc	0.502													G|||	3945	0.78774	0.9728	0.7954	5008	,	,		19804	0.745		0.6551	False		,,,				2504	0.7127				p.G397R		Atlas-SNP	.											.	OAS1	128	.	0			c.G1189A						PASS	.	G	ARG/GLY,	4067,339	771.8+/-413.8	1875,317,11	49	38	42		1189,	0.6	0	12	dbSNP_36	42	5555,3045	635.3+/-399.0	1811,1933,556	yes	missense,utr-3	OAS1	NM_001032409.1,NM_016816.2	125,	3686,2250,567	AA,AG,GG		35.407,7.6941,26.0188	,	397/415,	113357442	9622,3384	2203	4300	6503	SO:0001624	3_prime_UTR_variant	4938	exon6			CAGAGAGGACAAA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.*84G>A	12.37:g.113357442G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001032409	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	1710	0.782967032967033	483	0.9817073170731707	280	0.7734806629834254	447	0.7814685314685315	500	0.6596306068601583	G	3.465	-0.109085	0.06924	0.923059	0.64593	ENSG00000089127	ENST00000445409	T	0.09445	2.98	2.51	0.603	0.17541	.	2585.470000	0.00166	N	0.000000	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.22800	0.075	B	0.16722	0.016	T	0.24404	-1.0161	8	0.07175	T	0.84	.	4.7613	0.13110	0.3187:0.0:0.6813:0.0	rs2660;rs3168660;rs17834423;rs56511560;rs56662468;rs2660	397	P00973-3	.	R	397	ENSP00000388001:G397R	ENSP00000388001:G397R	G	+	1	0	OAS1	111841825	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.758000	0.04766	0.170000	0.19704	-0.225000	0.12378	GGA	G|0.225;A|0.775	0.775	strong		0.502	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113357442	G	A	113357442	1	1	22	0	1	0	0	0	0	0	0	0	10799	1001	35	2		2	OAS1	12	113357442	3'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205	113357442	20494453	6967	12075										
OAS3	4940	hgsc.bcm.edu	37	chr12	113376388	113376388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacaggttcgtggccagaaGgctgcagccgcggaaggagt	18	9	0	1	rs1859330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113376388G>A	ENST00000228928.7	+	1	232	c.53G>A	c.(52-54)aGg>aAg	p.R18K	OAS3_ENST00000548514.1_Missense_Mutation_p.R18K|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Missense_Mutation_p.R18K|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	18	OAS domain 1.		R -> K (in dbSNP:rs1859330). {ECO:0000269|PubMed:11280764}.|R -> M (in dbSNP:rs1859330).|R -> T (in dbSNP:rs1859330).		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GTGGCCAGAAGGCTGCAGCCG	0.736													G|||	3321	0.663139	0.5537	0.7219	5008	,	,		14015	0.749		0.6302	False		,,,				2504	0.7147				p.R18K		Atlas-SNP	.											.	OAS3	63	.	0			c.G53A						PASS	.	G	LYS/ARG	2114,1456		650,814,321	12	14	13		53	-1.2	0	12	dbSNP_92	13	5068,2900		1682,1704,598	yes	missense	OAS3	NM_006187.2	26	2332,2518,919	AA,AG,GG		36.3956,40.7843,37.7535	benign	18/1088	113376388	7182,4356	1785	3984	5769	SO:0001583	missense	4940	exon1			CCAGAAGGCTGCA	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.53G>A	12.37:g.113376388G>A	ENSP00000228928:p.Arg18Lys	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	1496	0.684981684981685	306	0.6219512195121951	252	0.6961325966850829	452	0.7902097902097902	486	0.6411609498680739	G	12.70	2.016575	0.35606	0.592157	0.636044	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.08193	3.12;3.12;3.12	3.11	-1.2	0.09554	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.58432	P	8.000000000008E-6	B;B;B	0.30824	0.015;0.296;0.24	B;B;B	0.26416	0.005;0.069;0.047	T	0.07539	-1.0767	8	0.44086	T	0.13	.	3.2965	0.06968	0.4057:0.2121:0.3821:0.0	rs1859330;rs3815176;rs56927475;rs1859330	18;18;18	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	K	18	ENSP00000228928:R18K;ENSP00000449299:R18K;ENSP00000448388:R18K	ENSP00000228928:R18K	R	+	2	0	OAS3	111860771	0.008000	0.16893	0.023000	0.16930	0.003000	0.03518	-0.030000	0.12308	-0.125000	0.11703	-0.339000	0.08088	AGG	G|0.326;A|0.674	0.674	strong		0.736	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			A	113376388	G	A	113376388	3	1	22	1	0	0	0	0	1	0	0	0	10801	1000	35	2	55	2	OAS3	12	113376388	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18946	113376388	20475507	6968	12076										
OAS3	4940	hgsc.bcm.edu	37	chr12	113376452	113376452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcgccctggccgctgcCctgagggagcgcgggggccg	20	15	0	1	rs1859329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113376452C>T	ENST00000228928.7	+	1	296	c.117C>T	c.(115-117)gcC>gcT	p.A39A	OAS3_ENST00000548514.1_Silent_p.A39A|OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000551007.1_Silent_p.A39A|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	39	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGCCGCTGCCCTGAGGGAGC	0.701													C|||	3937	0.786142	0.9887	0.7738	5008	,	,		12918	0.748		0.6352	False		,,,				2504	0.7157				p.A39A		Atlas-SNP	.											.	OAS3	63	.	0			c.C117T						PASS	.	C		3337,247		1556,225,11	7	8	8		117	0.8	0	12	dbSNP_92	8	5199,2777		1738,1723,527	no	coding-synonymous	OAS3	NM_006187.2		3294,1948,538	TT,TC,CC		34.817,6.8917,26.1592		39/1088	113376452	8536,3024	1792	3988	5780	SO:0001819	synonymous_variant	4940	exon1			CGCTGCCCTGAGG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.117C>T	12.37:g.113376452C>T		Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	21	20	0.952381	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																			T|0.775;C|0.225	0.775	strong		0.701	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113376452	C	T	113376452	2	4	22	1	0	0	0	0	0	0	0	1	10801	610	22	2		2	OAS3	12	113376452	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64	113376452	20475443	6969	12077										
OAS3	4940	hgsc.bcm.edu	37	chr12	113386779	113386779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtacccaagagcagggagCaaacctccctcatgcccagc	10	15	1	1	rs2285933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113386779C>G	ENST00000228928.7	+	6	1322	c.1143C>G	c.(1141-1143)agC>agG	p.S381R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	381	Linker.		S -> R (in dbSNP:rs2285933). {ECO:0000269|PubMed:15489334}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGCAGGGAGCAAACCTCCCT	0.607													C|||	1405	0.280551	0.4092	0.379	5008	,	,		19978	0.1577		0.2565	False		,,,				2504	0.1881				p.S381R		Atlas-SNP	.											OAS3,brain,glioma,0,1	OAS3	63	1	0			c.C1143G						PASS	.	C	ARG/SER	1450,2514		249,952,781	37	41	40		1143	0	0	12	dbSNP_100	40	2178,6156		291,1596,2280	yes	missense	OAS3	NM_006187.2	110	540,2548,3061	GG,GC,CC		26.1339,36.5792,29.5007	benign	381/1088	113386779	3628,8670	1982	4167	6149	SO:0001583	missense	4940	exon6			AGGGAGCAAACCT	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1143C>G	12.37:g.113386779C>G	ENSP00000228928:p.Ser381Arg	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	175	71	0.405714	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	621	0.28434065934065933	194	0.3943089430894309	117	0.32320441988950277	105	0.18356643356643357	205	0.2704485488126649	C	2.291	-0.362396	0.05103	0.365792	0.261339	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.06687	3.27	3.0	0.0313	0.14170	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.26002	0.139	B	0.12156	0.007	T	0.47623	-0.9103	8	0.51188	T	0.08	.	3.3881	0.07278	0.0:0.52:0.2178:0.2622	rs2285933;rs2285933	381	Q9Y6K5	OAS3_HUMAN	R	381	ENSP00000228928:S381R	ENSP00000228928:S381R	S	+	3	2	OAS3	111871162	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.993000	0.03720	-0.002000	0.14469	-0.145000	0.13849	AGC	C|0.724;G|0.276	0.276	strong		0.607	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			G	113386779	C	G	113386779	3	3	22	1	0	0	0	0	1	0	0	0	10801	709	25	4	1165	4	OAS3	12	113386779	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10327	113386779	20465116	6970	12078										
OAS3	4940	hgsc.bcm.edu	37	chr12	113386950	113386950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcaggtgaaaaaggccatTgacatcatcttgcgctgcct	11	10	2	2	rs2285932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113386950T>C	ENST00000228928.7	+	6	1493	c.1314T>C	c.(1312-1314)atT>atC	p.I438I	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	438	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAAAGGCCATTGACATCATCT	0.567													C|||	4219	0.842452	0.9902	0.8012	5008	,	,		18302	0.9117		0.672	False		,,,				2504	0.7761				p.I438I		Atlas-SNP	.											.	OAS3	63	.	0			c.T1314C						PASS	.	C		3978,248		1869,240,4	55	61	59		1314	-8.1	0	12	dbSNP_100	59	5776,2698		1975,1826,436	no	coding-synonymous	OAS3	NM_006187.2		3844,2066,440	CC,CT,TT		31.8386,5.8684,23.1969		438/1088	113386950	9754,2946	2113	4237	6350	SO:0001819	synonymous_variant	4940	exon6			GGCCATTGACATC	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1314T>C	12.37:g.113386950T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	49	48	0.979592	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																			T|0.189;C|0.811	0.811	strong		0.567	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			C	113386950	T	C	113386950	2	2	22	1	0	0	0	0	0	0	0	1	10801	1800	63	2		2	OAS3	12	113386950	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	171	113386950	20464945	6971	12079										
OAS3	4940	hgsc.bcm.edu	37	chr12	113403684	113403684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccgagatccgagcccagCtggaggcatgtcaacaggag	13	12	2	1	rs2240188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113403684C>T	ENST00000228928.7	+	12	2718	c.2539C>T	c.(2539-2541)Ctg>Ttg	p.L847L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	847	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCGAGCCCAGCTGGAGGCATG	0.582													C|||	1423	0.284145	0.4221	0.3775	5008	,	,		21311	0.1558		0.2604	False		,,,				2504	0.1881				p.L847L		Atlas-SNP	.											.	OAS3	63	.	0			c.C2539T						PASS	.	C		1461,2543		252,957,793	34	38	37		2539	2.5	1	12	dbSNP_98	37	2231,6139		305,1621,2259	no	coding-synonymous	OAS3	NM_006187.2		557,2578,3052	TT,TC,CC		26.6547,36.4885,29.8368		847/1088	113403684	3692,8682	2002	4185	6187	SO:0001819	synonymous_variant	4940	exon12			GCCCAGCTGGAGG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2539C>T	12.37:g.113403684C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																			C|0.728;T|0.272	0.272	strong		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113403684	C	T	113403684	2	4	22	1	0	0	0	0	0	0	0	1	10801	796	28	2		2	OAS3	12	113403684	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16734	113403684	20448211	6972	12080										
OAS2	4939	hgsc.bcm.edu	37	chr12	113424893	113424893	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggcaactccgatggtacCcttgtcctcttcttcagtga	9	12	3	2	rs2072138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113424893C>G	ENST00000342315.4	+	2	442	c.228C>G	c.(226-228)acC>acG	p.T76T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.T76T|OAS2_ENST00000449768.2_Silent_p.T76T	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	76	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGATGGTACCCTTGTCCTCT	0.463													C|||	1097	0.21905	0.2141	0.3401	5008	,	,		19158	0.0863		0.2753	False		,,,				2504	0.2188				p.T76T	Pancreas(199;709 2232 18410 33584 35052)	Atlas-SNP	.											OAS2_ENST00000449768,NS,carcinoma,+1,1	OAS2	86	1	0			c.C228G						PASS	.	C	,,	1037,3369	379.7+/-323.4	117,803,1283	111	104	106		228,228,228	1.2	0	12	dbSNP_96	106	2475,6125	406.4+/-348.8	353,1769,2178	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	470,2572,3461	GG,GC,CC		28.7791,23.5361,27.0029	,,	76/173,76/688,76/720	113424893	3512,9494	2203	4300	6503	SO:0001819	synonymous_variant	4939	exon2			TGGTACCCTTGTC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.228C>G	12.37:g.113424893C>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	175	91	0.52	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																			C|0.753;G|0.247	0.247	strong		0.463	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			G	113424893	C	G	113424893	2	3	22	1	0	0	0	0	0	0	0	1	10800	610	22	4		4	OAS2	12	113424893	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21209	113424893	20427002	6973	12081										
OAS2	4939	hgsc.bcm.edu	37	chr12	113425154	113425154	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagagaaaagccaaagaagCgggtgccagacagctctgtg	15	8	1	3	rs1293767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113425154C>G	ENST00000342315.4	+	2	662				RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Missense_Mutation_p.S163R|OAS2_ENST00000392583.2_Intron	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCAAAGAAGCGGGTGCCAGA	0.493													G|||	4274	0.853435	0.9894	0.804	5008	,	,		19034	0.9137		0.675	False		,,,				2504	0.8262				p.S163R	Pancreas(199;709 2232 18410 33584 35052)	Atlas-SNP	.											.	OAS2	86	.	0			c.C489G						PASS	.	G	ARG/SER,,	4087,253		1924,239,7	29	34	32		489,,	0	0	12	dbSNP_87	32	5853,2715		2016,1821,447	yes	missense,intron,intron	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	110,,	3940,2060,454	GG,GC,CC		31.6877,5.8295,22.9935	,,	163/173,,	113425154	9940,2968	2170	4284	6454	SO:0001627	intron_variant	4939	exon2			AAGAAGCGGGTGC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.448+41C>G	12.37:g.113425154C>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_001032731	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	1810	0.8287545787545788	485	0.9857723577235772	285	0.787292817679558	519	0.9073426573426573	521	0.6873350923482849	G	0.013	-1.613994	0.00835	0.941705	0.683123	ENSG00000111335	ENST00000449768	T	0.11169	2.8	2.91	0.0253	0.14145	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12344	-1.0551	6	.	.	.	.	3.3519	0.07155	0.3816:0.2063:0.4121:0.0	rs1293767;rs17835904;rs58147375	163	Q6PJ33	.	R	163	ENSP00000411763:S163R	.	S	+	3	2	OAS2	111909537	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	0.257000	0.18369	-0.255000	0.09486	-0.729000	0.03580	AGC	C|0.212;G|0.788	0.788	strong		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			G	113425154	C	G	113425154	1	3	22	0	1	0	0	0	0	0	0	0	10800	767	27	4		4	OAS2	12	113425154	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	261	113425154	20426741	6974	12082										
OAS2	4939	hgsc.bcm.edu	37	chr12	113435450	113435450	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaaggcgtcagaaccgtActggagctgatcaaatgcca	12	10	2	3	rs1293755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113435450A>T	ENST00000342315.4	+	4	967	c.753A>T	c.(751-753)gtA>gtT	p.V251V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.V251V	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	251	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCAGAACCGTACTGGAGCTGA	0.512													T|||	4395	0.877596	0.9887	0.7997	5008	,	,		22556	1.0		0.6819	False		,,,				2504	0.8579				p.V251V	Pancreas(199;709 2232 18410 33584 35052)	Atlas-SNP	.											.	OAS2	86	.	0			c.A753T						PASS	.	T	,	4143,263	149.5+/-183.7	1945,253,5	125	109	114		753,753	-3	0	12	dbSNP_87	114	5905,2695	431.6+/-356.9	2039,1827,434	no	coding-synonymous,coding-synonymous	OAS2	NM_002535.2,NM_016817.2	,	3984,2080,439	TT,TA,AA		31.3372,5.9691,22.7433	,	251/688,251/720	113435450	10048,2958	2203	4300	6503	SO:0001819	synonymous_variant	4939	exon4			AACCGTACTGGAG	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.753A>T	12.37:g.113435450A>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																			A|0.208;T|0.792	0.792	strong		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113435450	A	T	113435450	2	4	22	1	0	0	0	0	0	0	0	1	10800	378	14	5		5	OAS2	12	113435450	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10296	113435450	20416445	6975	12083										
OAS2	4939	hgsc.bcm.edu	37	chr12	113444285	113444285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcattgatctgtataaatcCtcggacctcccgggaggaga	10	11	2	2	rs16942424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:113444285C>T	ENST00000342315.4	+	8	1750	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.S512S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	512	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTATAAATCCTCGGACCTCC	0.522													C|||	172	0.034345	0.1203	0.0173	5008	,	,		16629	0.0		0.001	False		,,,				2504	0.0				p.S512S	Pancreas(199;709 2232 18410 33584 35052)	Atlas-SNP	.											.	OAS2	86	.	0			c.C1536T						PASS	.	C	,	399,4007		18,363,1822	88	88	88		1536,1536	-0.6	0	12	dbSNP_123	88	19,8581		0,19,4281	no	coding-synonymous,coding-synonymous	OAS2	NM_002535.2,NM_016817.2	,	18,382,6103	TT,TC,CC		0.2209,9.0558,3.2139	,	512/688,512/720	113444285	418,12588	2203	4300	6503	SO:0001819	synonymous_variant	4939	exon8			TAAATCCTCGGAC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1536C>T	12.37:g.113444285C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	106	54	0.509434	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																			C|0.957;T|0.043	0.043	strong		0.522	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113444285	C	T	113444285	2	4	22	1	0	0	0	0	0	0	0	1	10800	668	24	2		2	OAS2	12	113444285	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8835	113444285	20407610	6976	12084										
RBM19	9904	hgsc.bcm.edu	37	chr12	114358449	114358449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctttctgggcttgctcCggcttcctgtattccacaaa	9	12	1	1	rs79120696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114358449C>T	ENST00000545145.2	-	19	2430	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	RBM19_ENST00000392561.3_Silent_p.P784P|RBM19_ENST00000261741.5_Silent_p.P784P	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	784	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGCTTGCTCCGGCTTCCTGT	0.562													C|||	384	0.0766773	0.2716	0.0317	5008	,	,		16543	0.0		0.003	False		,,,				2504	0.0				p.P784P		Atlas-SNP	.											.	RBM19	117	.	0			c.G2352A						PASS	.	C	,,	1093,3313	394.4+/-329.3	152,789,1262	237	239	238		2352,2352,2352	-10	0.3	12	dbSNP_131	238	10,8590	5.7+/-21.5	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	152,799,5552	TT,TC,CC		0.1163,24.8071,8.4807	,,	784/961,784/961,784/961	114358449	1103,11903	2203	4300	6503	SO:0001819	synonymous_variant	9904	exon19			TTGCTCCGGCTTC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2352G>A	12.37:g.114358449C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			C|0.917;T|0.083	0.083	strong		0.562	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114358449	C	T	114358449	2	4	22	1	0	0	0	0	0	0	0	1	13121	639	23	1		1	RBM19	12	114358449	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	914164	114358449	19493446	6977	12085										
RBM19	9904	hgsc.bcm.edu	37	chr12	114374887	114374887	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttttcttctgtggggctgTgctggagaagacgccaactg	13	9	2	2	rs2290787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114374887T>A	ENST00000545145.2	-	16	2071	c.1993A>T	c.(1993-1995)Aca>Tca	p.T665S	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.T665S|RBM19_ENST00000392561.3_Missense_Mutation_p.T665S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	665			T -> A (in dbSNP:rs2290787). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T665A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGTGGGGCTGTGCTGGAGAAG	0.527													C|||	386	0.0770767	0.2731	0.0317	5008	,	,		17578	0.0		0.003	False		,,,				2504	0.0				p.T665S		Atlas-SNP	.											RBM19,NS,carcinoma,0,1	RBM19	117	1	1	Substitution - Missense(1)	stomach(1)	c.A1993T						PASS	.						130	129	129					12																	114374887		2203	4300	6503	SO:0001583	missense	9904	exon16			GGGCTGTGCTGGA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1993A>T	12.37:g.114374887T>A	ENSP00000442053:p.Thr665Ser	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	188	85	0.452128	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	127	0.05815018315018315	112	0.22764227642276422	13	0.03591160220994475	0	0.0	2	0.002638522427440633	C	8.267	0.812524	0.16537	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05025	3.51;3.51;3.51	4.5	-7.42	0.01388	Nucleotide-binding, alpha-beta plait (1);	0.638273	0.16199	N	0.225012	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.33701	-0.9858	9	0.08599	T	0.76	0.174	2.1166	0.03715	0.1533:0.1255:0.303:0.4182	rs2290787;rs17856103;rs17856172	665	Q9Y4C8	RBM19_HUMAN	S	665	ENSP00000442053:T665S;ENSP00000376344:T665S;ENSP00000261741:T665S	ENSP00000261741:T665S	T	-	1	0	RBM19	112859270	0.076000	0.21285	0.052000	0.19188	0.226000	0.24999	-0.181000	0.09740	-2.257000	0.00695	-1.557000	0.00889	ACA	A|0.076;C|0.019;T|0.905	0.076	strong		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		A	114374887	T	A	114374887	3	1	22	1	0	0	0	0	1	0	0	0	13121	1696	59	5	925	5	RBM19	12	114374887	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16438	114374887	19477008	6978	12086										
RBM19	9904	hgsc.bcm.edu	37	chr12	114377835	114377835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaactccacgatggcagtgAttccgccctctggcagcagc	12	14	1	1	rs2290788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114377835A>G	ENST00000545145.2	-	15	1946	c.1868T>C	c.(1867-1869)aTc>aCc	p.I623T	RBM19_ENST00000392561.3_Missense_Mutation_p.I623T|RBM19_ENST00000261741.5_Missense_Mutation_p.I623T|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	623	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.		I -> T (in dbSNP:rs2290788). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATGGCAGTGATTCCGCCCTC	0.642													A|||	965	0.192692	0.3245	0.0735	5008	,	,		16454	0.1885		0.1133	False		,,,				2504	0.1851				p.I623T		Atlas-SNP	.											.	RBM19	117	.	0			c.T1868C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE	1342,3064	436.1+/-344.5	224,894,1085	54	60	58		1868,1868,1868	3.1	0.7	12	dbSNP_100	58	888,7712	196.3+/-241.3	39,810,3451	yes	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	89,89,89	263,1704,4536	GG,GA,AA		10.3256,30.4585,17.1459	benign,benign,benign	623/961,623/961,623/961	114377835	2230,10776	2203	4300	6503	SO:0001583	missense	9904	exon15			GCAGTGATTCCGC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1868T>C	12.37:g.114377835A>G	ENSP00000442053:p.Ile623Thr	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	69	28	0.405797	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	351	0.16071428571428573	137	0.2784552845528455	26	0.0718232044198895	102	0.17832167832167833	86	0.11345646437994723	A	12.45	1.941992	0.34283	0.304585	0.103256	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06608	3.28;3.28;3.28	4.3	3.08	0.35506	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.262265	0.37219	N	0.002186	T	0.00012	0.0000	N	0.10645	0.015	0.21915	P	0.999477564	B	0.20261	0.043	B	0.36808	0.233	T	0.44390	-0.9331	9	0.02654	T	1	-12.7717	10.0478	0.42197	0.8499:0.0:0.0:0.1501	rs2290788;rs17849835;rs17857860;rs2290788	623	Q9Y4C8	RBM19_HUMAN	T	623	ENSP00000442053:I623T;ENSP00000376344:I623T;ENSP00000261741:I623T	ENSP00000261741:I623T	I	-	2	0	RBM19	112862218	1.000000	0.71417	0.693000	0.30195	0.561000	0.35649	8.500000	0.90498	1.600000	0.50102	0.459000	0.35465	ATC	A|0.832;G|0.168	0.168	strong		0.642	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		G	114377835	A	G	114377835	3	3	22	1	0	0	0	0	1	0	0	0	13121	333	12	2	1054	2	RBM19	12	114377835	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2948	114377835	19474060	6979	12087										
RBM19	9904	hgsc.bcm.edu	37	chr12	114377877	114377877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcggcccaggctgccaaaaTggccgaaggtctcctgcagc	13	15	1	0	rs2290789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114377877T>C	ENST00000545145.2	-	15	1904	c.1826A>G	c.(1825-1827)cAt>cGt	p.H609R	RBM19_ENST00000392561.3_Missense_Mutation_p.H609R|RBM19_ENST00000261741.5_Missense_Mutation_p.H609R|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	609	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.		H -> R (in dbSNP:rs2290789). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGCCAAAATGGCCGAAGGT	0.642													C|||	996	0.198882	0.3464	0.0764	5008	,	,		17496	0.1885		0.1133	False		,,,				2504	0.1851				p.H609R		Atlas-SNP	.											.	RBM19	117	.	0			c.A1826G						PASS	.	C	ARG/HIS,ARG/HIS,ARG/HIS	1442,2964	676.6+/-403.3	255,932,1016	63	69	67		1826,1826,1826	0.2	0	12	dbSNP_100	67	886,7714	776.2+/-407.7	38,810,3452	yes	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	293,1742,4468	CC,CT,TT		10.3023,32.7281,17.8994	benign,benign,benign	609/961,609/961,609/961	114377877	2328,10678	2203	4300	6503	SO:0001583	missense	9904	exon15			CCAAAATGGCCGA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1826A>G	12.37:g.114377877T>C	ENSP00000442053:p.His609Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	362	0.16575091575091574	147	0.29878048780487804	27	0.07458563535911603	102	0.17832167832167833	86	0.11345646437994723	C	0	-2.782507	0.00079	0.327281	0.103023	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05319	3.46;3.46;3.46	4.29	0.25	0.15535	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.381500	0.26387	N	0.024675	T	0.00012	0.0000	N	0.00280	-1.71	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	9	0.05833	T	0.94	-0.08	6.9575	0.24580	0.0:0.4211:0.1156:0.4633	rs2290789;rs17856105;rs17856174;rs2290789	609	Q9Y4C8	RBM19_HUMAN	R	609	ENSP00000442053:H609R;ENSP00000376344:H609R;ENSP00000261741:H609R	ENSP00000261741:H609R	H	-	2	0	RBM19	112862260	0.437000	0.25593	0.025000	0.17156	0.040000	0.13550	0.866000	0.27954	-0.236000	0.09753	-1.007000	0.02485	CAT	T|0.830;C|0.170	0.170	strong		0.642	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		C	114377877	T	C	114377877	3	2	22	1	0	0	0	0	1	0	0	0	13121	1464	51	2	1096	2	RBM19	12	114377877	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42	114377877	19474018	6980	12088										
RBM19	9904	hgsc.bcm.edu	37	chr12	114383651	114383651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtggtcaaacacttgactCttggtggcgttgtacttctg	11	9	3	1	rs12321179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114383651C>T	ENST00000545145.2	-	13	1686	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	RBM19_ENST00000392561.3_Silent_p.K536K|RBM19_ENST00000261741.5_Silent_p.K536K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	536					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K536K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACACTTGACTCTTGGTGGCGT	0.552													C|||	994	0.198482	0.3472	0.0764	5008	,	,		22010	0.1885		0.1133	False		,,,				2504	0.182				p.K536K		Atlas-SNP	.											RBM19,NS,carcinoma,0,1	RBM19	117	1	1	Substitution - coding silent(1)	stomach(1)	c.G1608A						PASS	.	C	,,	1440,2966	466.0+/-354.4	254,932,1017	161	119	133		1608,1608,1608	3.8	1	12	dbSNP_120	133	887,7713	199.4+/-243.5	39,809,3452	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	293,1741,4469	TT,TC,CC		10.314,32.6827,17.8917	,,	536/961,536/961,536/961	114383651	2327,10679	2203	4300	6503	SO:0001819	synonymous_variant	9904	exon13			TTGACTCTTGGTG	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1608G>A	12.37:g.114383651C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	150	72	0.48	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			C|0.823;T|0.177	0.177	strong		0.552	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114383651	C	T	114383651	2	4	22	1	0	0	0	0	0	0	0	1	13121	912	32	2		2	RBM19	12	114383651	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5774	114383651	19468244	6981	12089										
RBM19	9904	hgsc.bcm.edu	37	chr12	114386639	114386639	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggaggccacacccctaccAtatttggagaagagcttctc	9	14	1	2	rs7966348|rs17849837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114386639A>G	ENST00000545145.2	-	10	1353	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	RBM19_ENST00000392561.3_Splice_Site_p.Y425Y|RBM19_ENST00000261741.5_Splice_Site_p.Y425Y	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	425	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y425Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACCCCTACCATATTTGGAGA	0.607													G|||	992	0.198083	0.3457	0.0764	5008	,	,		18272	0.1885		0.1133	False		,,,				2504	0.182				p.Y425Y		Atlas-SNP	.											RBM19,NS,carcinoma,0,1	RBM19	117	1	1	Substitution - coding silent(1)	stomach(1)	c.T1275C						PASS	.	G	,,	1441,2965	683.3+/-404.2	253,935,1015	76	66	69		1275,1275,1275	0.8	0.8	12	dbSNP_116	69	887,7713	778.8+/-407.7	38,811,3451	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	291,1746,4466	GG,GA,AA		10.314,32.7054,17.8994	,,	425/961,425/961,425/961	114386639	2328,10678	2203	4300	6503	SO:0001630	splice_region_variant	9904	exon10			CCTACCATATTTG	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1276+1T>C	12.37:g.114386639A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	130	82	0.630769	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			A|0.823;G|0.177	0.177	strong		0.607	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Silent	G	114386639	A	G	114386639	5	3	22	1	0	0	0	0	0	0	1	0	13121	231	8	2	1667	2	RBM19	12	114386639	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2988	114386639	19465256	6982	12090										
RBM19	9904	hgsc.bcm.edu	37	chr12	114386723	114386723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccttccggattcggccagGtcctcctcctcttcgttctc	8	17	2	0	rs7979406	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114386723G>A	ENST00000545145.2	-	10	1269	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	RBM19_ENST00000392561.3_Silent_p.D397D|RBM19_ENST00000261741.5_Silent_p.D397D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	397					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ATTCGGCCAGGTCCTCCTCCT	0.562													G|||	156	0.0311502	0.1104	0.013	5008	,	,		19228	0.0		0.001	False		,,,				2504	0.0				p.D397D		Atlas-SNP	.											.	RBM19	117	.	0			c.C1191T						PASS	.	G	,,	389,4017	194.0+/-219.0	16,357,1830	180	170	173		1191,1191,1191	4.3	1	12	dbSNP_116	173	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	16,360,6127	AA,AG,GG		0.0349,8.8289,3.014	,,	397/961,397/961,397/961	114386723	392,12614	2203	4300	6503	SO:0001819	synonymous_variant	9904	exon10			GGCCAGGTCCTCC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1191C>T	12.37:g.114386723G>A		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	247	121	0.489879	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			G|0.971;A|0.029	0.029	strong		0.562	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		A	114386723	G	A	114386723	2	1	22	1	0	0	0	0	0	0	0	1	13121	1252	44	2		2	RBM19	12	114386723	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84	114386723	19465172	6983	12091										
RBM19	9904	hgsc.bcm.edu	37	chr12	114397192	114397192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgacagaaactcctggaaCtctgtatcctccttcagctg	7	13	2	2	rs140397506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:114397192C>T	ENST00000545145.2	-	5	474	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RBM19_ENST00000261741.5_Silent_p.E132E|RBM19_ENST00000392561.3_Silent_p.E132E	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	132					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTCCTGGAACTCTGTATCCT	0.597													C|||	26	0.00519169	0.0	0.0115	5008	,	,		17548	0.0		0.0169	False		,,,				2504	0.001				p.E132E		Atlas-SNP	.											.	RBM19	117	.	0			c.G396A						PASS	.	C	,,	17,4389	24.3+/-50.5	0,17,2186	63	67	66		396,396,396	2.4	1	12	dbSNP_134	66	139,8461	69.0+/-131.5	0,139,4161	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	0,156,6347	TT,TC,CC		1.6163,0.3858,1.1994	,,	132/961,132/961,132/961	114397192	156,12850	2203	4300	6503	SO:0001819	synonymous_variant	9904	exon5			CTGGAACTCTGTA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.396G>A	12.37:g.114397192C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	113	63	0.557522	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			C|0.989;T|0.011	0.011	strong		0.597	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114397192	C	T	114397192	2	4	22	1	0	0	0	0	0	0	0	1	13121	564	20	2		2	RBM19	12	114397192	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10469	114397192	19454703	6984	12092										
TBX3	6926	hgsc.bcm.edu	37	chr12	115118722	115118722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgttgttggtgagtttcaGtttgtggaaagtgacgactt	13	3	1	2	rs35069811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:115118722G>A	ENST00000257566.3	-	2	1008	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TBX3_ENST00000349155.2_Silent_p.L207L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	207					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GTGAGTTTCAGTTTGTGGAAA	0.463													G|||	73	0.0145767	0.0537	0.0029	5008	,	,		19262	0.0		0.0	False		,,,				2504	0.0				p.L207L		Atlas-SNP	.											.	TBX3	106	.	0			c.C619T						PASS	.	G	,	256,4150	146.9+/-181.5	7,242,1954	147	139	142		619,619	4.9	1	12	dbSNP_126	142	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	TBX3	NM_005996.3,NM_016569.3	,	7,246,6250	AA,AG,GG		0.0465,5.8103,1.9991	,	207/724,207/744	115118722	260,12746	2203	4300	6503	SO:0001819	synonymous_variant	6926	exon2			GTTTCAGTTTGTG	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.619C>T	12.37:g.115118722G>A		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	256	118	0.460938	NM_005996	Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	CCDS9176.1																																																																																			G|0.979;A|0.021	0.021	strong		0.463	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		A	115118722	G	A	115118722	2	1	22	1	0	0	0	0	0	0	0	1	15656	1020	36	2		2	TBX3	12	115118722	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	721530	115118722	18733173	6985	12093										
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		Atlas-SNP	.											RNFT2,NS,carcinoma,0,4	RNFT2	28	4	0			c.T345C						PASS	.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_001109903	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233	0.233	strong		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	22	1	0	0	0	0	0	0	0	1	13502	1490	52	2		2	RNFT2	12	117187907	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2069185	117187907	16663988	6986	12094										
FBXW8	26259	hgsc.bcm.edu	37	chr12	117387465	117387465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggagcatgttcctgacAcagttttgtgtgatgtgcat	12	7	0	2	rs36021180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117387465A>G	ENST00000309909.5	+	4	713	c.631A>G	c.(631-633)Aca>Gca	p.T211A	FBXW8_ENST00000455858.2_Missense_Mutation_p.T145A			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	211			T -> A (in dbSNP:rs36021180).		cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TGTTCCTGACACAGTTTTGTG	0.517													G|||	64	0.0127796	0.0454	0.0029	5008	,	,		24536	0.0		0.002	False		,,,				2504	0.0				p.T211A		Atlas-SNP	.											.	FBXW8	53	.	0			c.A631G						PASS	.	G	ALA/THR,ALA/THR	214,4192	806.9+/-415.9	6,202,1995	331	238	270		433,631	4.1	0.3	12	dbSNP_126	270	33,8567	817.8+/-406.9	0,33,4267	yes	missense,missense	FBXW8	NM_012174.1,NM_153348.2	58,58	6,235,6262	GG,GA,AA		0.3837,4.857,1.8991	benign,benign	145/533,211/599	117387465	247,12759	2203	4300	6503	SO:0001583	missense	26259	exon4			CCTGACACAGTTT	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.631A>G	12.37:g.117387465A>G	ENSP00000310686:p.Thr211Ala	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	153	85	0.555556	NM_153348	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	26	0.011904761904761904	23	0.046747967479674794	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	0.527	-0.859427	0.02610	0.04857	0.003837	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.04454	3.62;3.62	5.05	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.116916	0.53938	N	0.000041	T	0.00328	0.0010	N	0.02011	-0.69	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48670	-0.9015	10	0.14656	T	0.56	-3.3319	4.7195	0.12912	0.3949:0.0:0.6051:0.0	rs36021180;rs61748073	211;145	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	A	211;145;145	ENSP00000310686:T211A;ENSP00000389144:T145A	ENSP00000310686:T211A	T	+	1	0	FBXW8	115871848	0.960000	0.32886	0.276000	0.24689	0.163000	0.22366	4.018000	0.57174	1.377000	0.46286	-0.227000	0.12334	ACA	A|0.983;G|0.017	0.017	strong		0.517	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		G	117387465	A	G	117387465	3	3	22	1	0	0	0	0	1	0	0	0	5770	159	6	2	645	2	FBXW8	12	117387465	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	199558	117387465	16464430	6987	12095										
NOS1	4842	hgsc.bcm.edu	37	chr12	117657991	117657991	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatggtgacgtccccacaGacgtatatgtggcccccttg	11	14	0	2	rs2293044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117657991G>T	ENST00000338101.4	-	27	4165	c.4161C>A	c.(4159-4161)gtC>gtA	p.V1387V	NOS1_ENST00000317775.6_Silent_p.V1353V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGTCCCCACAGACGTATATGT	0.597													G|||	195	0.0389377	0.062	0.0202	5008	,	,		20316	0.0585		0.0099	False		,,,				2504	0.0307				p.V1387V	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											.	NOS1	240	.	0			c.C4161A						PASS	.	G	,,,	291,4107	147.3+/-181.8	6,279,1914	142	153	149		4059,3051,3051,4161	-2.7	0.6	12	dbSNP_100	149	51,8547	31.7+/-84.0	0,51,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	6,330,6162	TT,TG,GG		0.5932,6.6166,2.6316	,,,	1353/1435,1017/1099,1017/1099,1387/1469	117657991	342,12654	2199	4299	6498	SO:0001819	synonymous_variant	4842	exon28			CCCACAGACGTAT		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4161C>A	12.37:g.117657991G>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	56	21	0.375	NM_001204218		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																			G|0.966;T|0.034	0.034	strong		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117657991	G	T	117657991	2	4	22	1	0	0	0	0	0	0	0	1	10541	929	33	4		4	NOS1	12	117657991	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	270526	117657991	16193904	6988	12096										
NOS1	4842	hgsc.bcm.edu	37	chr12	117685255	117685255	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccctcccagttcttccagGagggtgtccacagcgtgtcc	10	16	1	0	rs41410247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117685255G>A	ENST00000338101.4	-	18	2827	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	NOS1_ENST00000317775.6_Silent_p.L907L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTTCTTCCAGGAGGGTGTCCA	0.552													G|||	37	0.00738818	0.0272	0.0014	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0				p.L941L	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											.	NOS1	240	.	0			c.C2823T						PASS	.	G	,,,	95,3833		0,95,1869	91	91	91		2721,1713,1713,2823	2.7	1	12	dbSNP_127	91	5,8315		0,5,4155	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,100,6024	AA,AG,GG		0.0601,2.4185,0.8165	,,,	907/1435,571/1099,571/1099,941/1469	117685255	100,12148	1964	4160	6124	SO:0001819	synonymous_variant	4842	exon19			TTCCAGGAGGGTG		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2823C>T	12.37:g.117685255G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	157	72	0.458599	NM_001204218		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																			G|0.995;A|0.005	0.005	strong		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117685255	G	A	117685255	2	1	22	1	0	0	0	0	0	0	0	1	10541	1161	41	2		2	NOS1	12	117685255	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27264	117685255	16166640	6989	12097										
NOS1	4842	hgsc.bcm.edu	37	chr12	117691490	117691490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagttgtctctgaggtcGggcccatcgcctgatgattt	11	10	2	3	rs9658446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117691490G>A	ENST00000338101.4	-	17	2707	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P	NOS1_ENST00000317775.6_Silent_p.P867P|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTCTGAGGTCGGGCCCATCGC	0.562													G|||	163	0.0325479	0.0983	0.0202	5008	,	,		18019	0.0		0.002	False		,,,				2504	0.0174				p.P901P	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											NOS1,NS,carcinoma,0,1	NOS1	240	1	0			c.C2703T						PASS	.	G	,,,	340,3958		15,310,1824	90	97	95		2601,1593,1593,2703	-7.8	0.8	12	dbSNP_119	95	26,8488		0,26,4231	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	15,336,6055	AA,AG,GG		0.3054,7.9107,2.8567	,,,	867/1435,531/1099,531/1099,901/1469	117691490	366,12446	2149	4257	6406	SO:0001819	synonymous_variant	4842	exon18			GAGGTCGGGCCCA		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2703C>T	12.37:g.117691490G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	149	51	0.342282	NM_001204218		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																			G|0.985;A|0.015	0.015	strong		0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117691490	G	A	117691490	2	1	22	1	0	0	0	0	0	0	0	1	10541	1103	39	1		1	NOS1	12	117691490	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6235	117691490	16160405	6990	12098										
KSR2	283455	hgsc.bcm.edu	37	chr12	117993064	117993064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagggttgttgatgtcacaCggaacggactctgtccggac	14	9	2	2	rs7955803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:117993064C>T	ENST00000339824.5	-	9	2155	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P	KSR2_ENST00000425217.1_Silent_p.P447P|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.P173P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	476					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGATGTCACACGGAACGGACT	0.488													C|||	1264	0.252396	0.2799	0.2003	5008	,	,		20620	0.1587		0.2684	False		,,,				2504	0.3323				p.P447P		Atlas-SNP	.											.	KSR2	208	.	0			c.G1341A						PASS	.	C		1045,2909		143,759,1075	130	135	134		1341	-10.2	0.3	12	dbSNP_116	134	2125,6185		286,1553,2316	no	coding-synonymous	KSR2	NM_173598.4		429,2312,3391	TT,TC,CC		25.5716,26.4289,25.848		447/922	117993064	3170,9094	1977	4155	6132	SO:0001819	synonymous_variant	283455	exon9			GTCACACGGAACG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1428G>A	12.37:g.117993064C>T		Somatic	294	1	0.00340136		WXS	Illumina HiSeq	Phase_I	327	159	0.486239	NM_173598	A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37																																																																																				C|0.758;T|0.242	0.242	strong		0.488	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	117993064	C	T	117993064	2	4	22	1	0	0	0	0	0	0	0	1	8582	523	19	1		1	KSR2	12	117993064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	301574	117993064	15858831	6991	12099										
RFC5	5985	hgsc.bcm.edu	37	chr12	118465820	118465820	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatcctgacagagatacacTtgtttgtgcatagaggtaac	9	7	0	3	rs5745873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:118465820T>C	ENST00000454402.2	+	9	974	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Silent_p.L201L|RFC5_ENST00000392542.2_Silent_p.L265L	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	286					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGATACACTTGTTTGTGCA	0.458													T|||	474	0.0946486	0.2489	0.0461	5008	,	,		17914	0.0		0.0964	False		,,,				2504	0.0164				p.L286L		Atlas-SNP	.											.	RFC5	35	.	0			c.T856C						PASS	.	T	,,,	993,3413	370.8+/-319.7	114,765,1324	122	112	115		601,847,856,793	-1.5	1	12	dbSNP_114	115	696,7904	172.2+/-222.9	21,654,3625	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RFC5	NM_001130112.2,NM_001206801.1,NM_007370.5,NM_181578.3	,,,	135,1419,4949	CC,CT,TT		8.093,22.5374,12.9863	,,,	201/256,283/338,286/341,265/320	118465820	1689,11317	2203	4300	6503	SO:0001819	synonymous_variant	5985	exon9			ATACACTTGTTTG		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.856T>C	12.37:g.118465820T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	51	23	0.45098	NM_007370	A8MZ62|B3KSX8	Silent	SNP	ENST00000454402.2	37	CCDS9185.1																																																																																			T|0.884;C|0.116	0.116	strong		0.458	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		C	118465820	T	C	118465820	2	2	22	1	0	0	0	0	0	0	0	1	13248	1606	56	3		3	RFC5	12	118465820	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	472756	118465820	15386075	6992	12100										
WSB2	55884	hgsc.bcm.edu	37	chr12	118474238	118474238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcagagtcgggggagaaGtcacaagagacaacactgct	15	8	1	3	rs34253698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:118474238G>A	ENST00000315436.3	-	6	879	c.738C>T	c.(736-738)gaC>gaT	p.D246D	WSB2_ENST00000544233.1_Silent_p.D36D|WSB2_ENST00000441406.2_Silent_p.D263D|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Silent_p.D21D|WSB2_ENST00000535496.1_Silent_p.D248D	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	246					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGGAGAAGTCACAAGAGA	0.512													G|||	77	0.0153754	0.056	0.0043	5008	,	,		19879	0.0		0.0	False		,,,				2504	0.0				p.D246D		Atlas-SNP	.											.	WSB2	32	.	0			c.C738T						PASS	.	G		183,4223	117.1+/-155.0	4,175,2024	176	156	163		738	3.8	1	12	dbSNP_126	163	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	WSB2	NM_018639.3		4,178,6321	AA,AG,GG		0.0349,4.1534,1.4301		246/405	118474238	186,12820	2203	4300	6503	SO:0001819	synonymous_variant	55884	exon6			GGAGAAGTCACAA	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.738C>T	12.37:g.118474238G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	132	59	0.44697	NM_018639	B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	CCDS9186.1																																																																																			G|0.985;A|0.015	0.015	strong		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		A	118474238	G	A	118474238	2	1	22	1	0	0	0	0	0	0	0	1	17402	1020	36	2		2	WSB2	12	118474238	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8418	118474238	15377657	6993	12101										
VSIG10	54621	hgsc.bcm.edu	37	chr12	118511726	118511726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggggtaggccccagacaCctggcatgtaagcgtcacat	14	11	1	1	rs9668527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:118511726C>T	ENST00000359236.5	-	5	1273	c.997G>A	c.(997-999)Gtg>Atg	p.V333M		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	333	Ig-like C2-type 4.		V -> M (in dbSNP:rs9668527).			integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCCCCAGACACCTGGCATGTA	0.567													C|||	297	0.0593051	0.1089	0.0331	5008	,	,		18792	0.1071		0.001	False		,,,				2504	0.0215				p.V333M		Atlas-SNP	.											.	VSIG10	41	.	0			c.G997A						PASS	.	C	MET/VAL	357,3523		18,321,1601	51	51	51		997	4.6	1	12	dbSNP_119	51	11,8293		0,11,4141	yes	missense	VSIG10	NM_019086.5	21	18,332,5742	TT,TC,CC		0.1325,9.201,3.0204	probably-damaging	333/541	118511726	368,11816	1940	4152	6092	SO:0001583	missense	54621	exon5			CAGACACCTGGCA		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.997G>A	12.37:g.118511726C>T	ENSP00000352172:p.Val333Met	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_019086	Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	CCDS44992.1	132	0.06043956043956044	60	0.12195121951219512	10	0.027624309392265192	62	0.10839160839160839	0	0.0	C	17.32	3.358775	0.61403	0.09201	0.001325	ENSG00000176834	ENST00000359236	T	0.75154	-0.91	5.52	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188421	0.26079	N	0.026463	T	0.09247	0.0228	M	0.86343	2.81	0.34487	P	0.29544800000000004	D	0.89917	1.0	D	0.81914	0.995	T	0.64101	-0.6486	9	0.56958	D	0.05	-22.4971	11.6729	0.51413	0.1376:0.7294:0.133:0.0	rs9668527;rs52810002;rs9668527	333	Q8N0Z9	VSI10_HUMAN	M	333	ENSP00000352172:V333M	ENSP00000352172:V333M	V	-	1	0	VSIG10	116996109	0.578000	0.26717	0.955000	0.39395	0.722000	0.41435	1.748000	0.38308	2.626000	0.88956	0.555000	0.69702	GTG	C|0.937;T|0.063	0.063	strong		0.567	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		T	118511726	C	T	118511726	3	4	22	1	0	0	0	0	1	0	0	0	17220	507	18	2	645	2	VSIG10	12	118511726	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37488	118511726	15340169	6994	12102										
VSIG10	54621	hgsc.bcm.edu	37	chr12	118520170	118520170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgggagcccctggctgcGtagagggtgccgttggggag	19	10	0	1	rs7488309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:118520170G>A	ENST00000359236.5	-	3	702	c.426C>T	c.(424-426)taC>taT	p.Y142Y	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	142	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CCCTGGCTGCGTAGAGGGTGC	0.607													G|||	2320	0.463259	0.4705	0.5908	5008	,	,		15185	0.5903		0.4115	False		,,,				2504	0.2853				p.Y142Y		Atlas-SNP	.											VSIG10,colon,carcinoma,0,1	VSIG10	41	1	0			c.C426T						PASS	.	G		1665,2219		373,919,650	66	72	70		426	-4.7	0	12	dbSNP_116	70	3382,4882		685,2012,1435	no	coding-synonymous	VSIG10	NM_019086.5		1058,2931,2085	AA,AG,GG		40.9245,42.8682,41.5459		142/541	118520170	5047,7101	1942	4132	6074	SO:0001819	synonymous_variant	54621	exon3			GGCTGCGTAGAGG		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.426C>T	12.37:g.118520170G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	163	59	0.361963	NM_019086	Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																			G|0.506;A|0.494	0.494	strong		0.607	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		A	118520170	G	A	118520170	2	1	22	1	0	0	0	0	0	0	0	1	17220	1140	40	1		1	VSIG10	12	118520170	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8444	118520170	15331725	6995	12103										
HSPB8	26353	hgsc.bcm.edu	37	chr12	119631654	119631654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacagccaggaagtcacCtgtacctgagatgccagtac	11	12	1	1	rs4628742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:119631654C>T	ENST00000281938.2	+	3	1253	c.582C>T	c.(580-582)acC>acT	p.T194T		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGAAGTCACCTGTACCTGAG	0.502													C|||	412	0.0822684	0.2867	0.0159	5008	,	,		18743	0.0169		0.001	False		,,,				2504	0.0041				p.T194T		Atlas-SNP	.											.	HSPB8	45	.	0			c.C582T						PASS	.	C		1050,3356	383.5+/-324.9	125,800,1278	89	84	86		582	1.4	1	12	dbSNP_111	86	9,8591	4.3+/-15.6	0,9,4291	no	coding-synonymous	HSPB8	NM_014365.2		125,809,5569	TT,TC,CC		0.1047,23.8311,8.1424		194/197	119631654	1059,11947	2203	4300	6503	SO:0001819	synonymous_variant	26353	exon3			AGTCACCTGTACC	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.582C>T	12.37:g.119631654C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	160	74	0.4625	NM_014365	B2R6A6|Q6FIH3|Q9UKS3	Silent	SNP	ENST00000281938.2	37	CCDS9189.1																																																																																			C|0.917;T|0.083	0.083	strong		0.502	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		T	119631654	C	T	119631654	2	4	22	1	0	0	0	0	0	0	0	1	7423	668	24	2		2	HSPB8	12	119631654	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1111484	119631654	14220241	6996	12104										
CIT	11113	hgsc.bcm.edu	37	chr12	120139701	120139701	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcgtagaatttattggtTccaatgaggatactgtaatt	8	4	0	2	rs34140357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120139701T>G	ENST00000261833.7	-	41	5293	c.5241A>C	c.(5239-5241)ggA>ggC	p.G1747G	CIT_ENST00000392521.2_Silent_p.G1789G|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1747	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATTTATTGGTTCCAATGAGGA	0.512													T|||	252	0.0503195	0.1823	0.0159	5008	,	,		21657	0.0		0.0	False		,,,				2504	0.0				p.G1789G		Atlas-SNP	.											.	CIT	535	.	0			c.A5367C						PASS	.	T	,	639,3767	274.0+/-271.7	50,539,1614	203	195	198		5367,5241	-0.1	1	12	dbSNP_126	198	8,8592	4.3+/-15.6	0,8,4292	no	coding-synonymous,coding-synonymous	CIT	NM_001206999.1,NM_007174.2	,	50,547,5906	GG,GT,TT		0.093,14.503,4.9746	,	1789/2070,1747/2028	120139701	647,12359	2203	4300	6503	SO:0001819	synonymous_variant	11113	exon42			ATTGGTTCCAATG	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5241A>C	12.37:g.120139701T>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	141	60	0.425532	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	97	0.044413919413919416	89	0.18089430894308944	8	0.022099447513812154	0	0.0	0	0.0	T	11.11	1.542516	0.27563	0.14503	9.3E-4	ENSG00000122966	ENST00000392520	.	.	.	5.68	-0.123	0.13527	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.14504	-1.0470	3	.	.	.	.	7.4878	0.27443	0.0:0.2091:0.1194:0.6715	rs34140357	.	.	.	A	1360	.	.	E	-	2	0	CIT	118624084	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.220000	0.32491	0.060000	0.16281	0.528000	0.53228	GAA	T|0.947;G|0.053	0.053	strong		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		G	120139701	T	G	120139701	2	3	22	1	0	0	0	0	0	0	0	1	3438	1770	62	5		5	CIT	12	120139701	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	508047	120139701	13712194	6997	12105										
CIT	11113	hgsc.bcm.edu	37	chr12	120145987	120145987	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgaggggagcttaccttGcctgccccaaacaagtggca	11	13	1	1	rs56158046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120145987G>C	ENST00000261833.7	-	39	5134	c.5082C>G	c.(5080-5082)ggC>ggG	p.G1694G	CIT_ENST00000392521.2_Silent_p.G1736G|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1694	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCTTACCTTGCCTGCCCCAA	0.527													G|||	555	0.110823	0.3661	0.0476	5008	,	,		17588	0.0		0.0199	False		,,,				2504	0.0184				p.G1736G		Atlas-SNP	.											.	CIT	535	.	0			c.C5208G						PASS	.	G	,	1273,3133	432.4+/-343.3	191,891,1121	89	83	85		5208,5082	4.2	1	12	dbSNP_129	85	133,8467	67.3+/-129.8	1,131,4168	no	coding-synonymous,coding-synonymous	CIT	NM_001206999.1,NM_007174.2	,	192,1022,5289	CC,CG,GG		1.5465,28.8924,10.8104	,	1736/2070,1694/2028	120145987	1406,11600	2203	4300	6503	SO:0001819	synonymous_variant	11113	exon40			TACCTTGCCTGCC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5082C>G	12.37:g.120145987G>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	199	0.09111721611721611	166	0.33739837398373984	20	0.055248618784530384	0	0.0	13	0.017150395778364115	G	3.445	-0.113195	0.06881	0.288924	0.015465	ENSG00000122966	ENST00000392520	.	.	.	5.08	4.18	0.49190	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.31971	-0.9924	3	.	.	.	.	10.8926	0.47004	0.0:0.1414:0.7117:0.1469	rs56158046;rs58511553	.	.	.	G	1307	.	.	A	-	2	0	CIT	118630370	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	1.849000	0.39318	1.264000	0.44198	0.462000	0.41574	GCA	G|0.901;C|0.099	0.099	strong		0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120145987	G	C	120145987	2	2	22	1	0	0	0	0	0	0	0	1	3438	1306	46	4		4	CIT	12	120145987	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6286	120145987	13705908	6998	12106										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120589064	120589064	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggcccgccaggccataGgcggcccctttgcgctctgc	12	18	1	0	rs2286045	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120589064G>C	ENST00000300648.6	-	34	4206	c.4194C>G	c.(4192-4194)gcC>gcG	p.A1398A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1398					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGCCATAGGCGGCCCCTT	0.587													C|||	1915	0.382388	0.6573	0.17	5008	,	,		17533	0.5427		0.1561	False		,,,				2504	0.229				p.A1398A		Atlas-SNP	.											GCN1L1,colon,carcinoma,0,1	GCN1L1	207	1	0			c.C4194G						PASS	.	C		2419,1901		682,1055,423	48	54	52		4194	-10.6	0	12	dbSNP_100	52	1304,7214		126,1052,3081	no	coding-synonymous	GCN1L1	NM_006836.1		808,2107,3504	CC,CG,GG		15.3088,44.0046,28.9998		1398/2672	120589064	3723,9115	2160	4259	6419	SO:0001819	synonymous_variant	10985	exon34			GCCATAGGCGGCC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4194C>G	12.37:g.120589064G>C		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	109	54	0.495413	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			G|0.685;C|0.315	0.315	strong		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			C	120589064	G	C	120589064	2	2	22	1	0	0	0	0	0	0	0	1	6299	987	35	4		4	GCN1L1	12	120589064	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	443077	120589064	13262831	6999	12107										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120591143	120591143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactctgtcgcacagcatcAtagctggcatcattgggcgc	10	13	3	0	rs12312562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120591143A>G	ENST00000300648.6	-	33	3948	c.3936T>C	c.(3934-3936)taT>taC	p.Y1312Y	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1312					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCATCATAGCTGGCAT	0.557													G|||	1712	0.341853	0.5053	0.1441	5008	,	,		21235	0.5546		0.1551	False		,,,				2504	0.2342				p.Y1312Y		Atlas-SNP	.											GCN1L1,colon,carcinoma,0,1	GCN1L1	207	1	0			c.T3936C						PASS	.	G		1762,2454		393,976,739	71	78	76		3936	-12.2	0	12	dbSNP_120	76	1258,7180		118,1022,3079	no	coding-synonymous	GCN1L1	NM_006836.1		511,1998,3818	GG,GA,AA		14.9087,41.7932,23.866		1312/2672	120591143	3020,9634	2108	4219	6327	SO:0001819	synonymous_variant	10985	exon33			AGCATCATAGCTG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3936T>C	12.37:g.120591143A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	120	61	0.508333	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			A|0.657;G|0.343	0.343	strong		0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120591143	A	G	120591143	2	3	22	1	0	0	0	0	0	0	0	1	6299	224	8	2		2	GCN1L1	12	120591143	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2079	120591143	13260752	7000	12108										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120608031	120608031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggctgcggcaaccccttcAgtgatggtgggaacctgagt	14	10	1	2	rs2286050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120608031A>G	ENST00000300648.6	-	15	1473	c.1461T>C	c.(1459-1461)acT>acC	p.T487T	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	487					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACCCCTTCAGTGATGGTGG	0.567													A|||	1447	0.288938	0.3101	0.1297	5008	,	,		20192	0.5655		0.1541	False		,,,				2504	0.227				p.T487T		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T1461C						PASS	.	A		1140,3030		166,808,1111	109	115	113		1461	-11.7	0.5	12	dbSNP_100	113	1244,7210		114,1016,3097	no	coding-synonymous	GCN1L1	NM_006836.1		280,1824,4208	GG,GA,AA		14.7149,27.3381,18.8847		487/2672	120608031	2384,10240	2085	4227	6312	SO:0001819	synonymous_variant	10985	exon15			CCCTTCAGTGATG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1461T>C	12.37:g.120608031A>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	145	69	0.475862	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			A|0.709;G|0.291	0.291	strong		0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120608031	A	G	120608031	2	3	22	1	0	0	0	0	0	0	0	1	6299	175	7	3		3	GCN1L1	12	120608031	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16888	120608031	13243864	7001	12109										
PLA2G1B	5319	hgsc.bcm.edu	37	chr12	120762765	120762765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgattgccgagccagagcaCgagtatgaataggtgtgggt	16	6	0	3	rs5637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120762765C>T	ENST00000308366.4	-	3	329	c.294G>A	c.(292-294)tcG>tcA	p.S98S	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Silent_p.S69S	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	98					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	AGCCAGAGCACGAGTATGAAT	0.493											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1056	0.210863	0.4592	0.147	5008	,	,		19390	0.0794		0.1392	False		,,,				2504	0.1299				p.S98S	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	Atlas-SNP	.											.	PLA2G1B	8	.	0			c.G294A						PASS	.	C		1737,2669	518.3+/-369.7	350,1037,816	212	180	191		294	-10.1	0	12	dbSNP_52	191	1276,7324	252.6+/-278.6	92,1092,3116	no	coding-synonymous	PLA2G1B	NM_000928.2		442,2129,3932	TT,TC,CC		14.8372,39.4235,23.1662		98/149	120762765	3013,9993	2203	4300	6503	SO:0001819	synonymous_variant	5319	exon3			AGAGCACGAGTAT		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.294G>A	12.37:g.120762765C>T		Somatic	273	0	0	1506	WXS	Illumina HiSeq	Phase_I	261	260	0.996169	NM_000928	B2R4H5|Q3KPI1	Silent	SNP	ENST00000308366.4	37	CCDS9195.1																																																																																			C|0.786;T|0.214	0.214	strong		0.493	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			T	120762765	C	T	120762765	2	4	22	1	0	0	0	0	0	0	0	1	11994	523	19	1		1	PLA2G1B	12	120762765	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	154734	120762765	13089130	7002	12110										
COQ5	84274	hgsc.bcm.edu	37	chr12	120954490	120954490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcattctggtactctttggCaatttcttcccaggataaat	6	9	4	0	rs3742049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:120954490C>T	ENST00000288532.6	-	3	494	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	152			A -> T (in dbSNP:rs3742049). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACTCTTTGGCAATTTCTTCC	0.448													C|||	724	0.144569	0.2859	0.1037	5008	,	,		18233	0.0794		0.1083	False		,,,				2504	0.0869				p.A152T		Atlas-SNP	.											COQ5,NS,carcinoma,0,1	COQ5	26	1	0			c.G454A						scavenged	.	C	THR/ALA	1112,3294	399.5+/-331.2	134,844,1225	192	193	193		454	4.5	1	12	dbSNP_107	193	927,7673	204.9+/-247.5	43,841,3416	yes	missense	COQ5	NM_032314.3	58	177,1685,4641	TT,TC,CC		10.7791,25.2383,15.6774	benign	152/328	120954490	2039,10967	2203	4300	6503	SO:0001583	missense	84274	exon3			CTTTGGCAATTTC	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.454G>A	12.37:g.120954490C>T	ENSP00000288532:p.Ala152Thr	Somatic	171	2	0.0116959		WXS	Illumina HiSeq	Phase_I	190	68	0.357895	NM_032314	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	319	0.14606227106227107	147	0.29878048780487804	40	0.11049723756906077	44	0.07692307692307693	88	0.11609498680738786	C	15.53	2.859622	0.51376	0.252383	0.107791	ENSG00000110871	ENST00000288532;ENST00000552443;ENST00000547943;ENST00000551769	T;T;T;T	0.63913	-0.07;-0.05;0.54;-0.03	5.41	4.48	0.54585	.	0.281692	0.40640	N	0.001047	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	0.9999999999999977	B	0.21071	0.051	B	0.20577	0.03	T	0.08764	-1.0706	9	0.41790	T	0.15	.	7.3994	0.26954	0.3804:0.5411:0.0:0.0785	rs3742049;rs52835442;rs58137205;rs3742049	152	Q5HYK3	COQ5_HUMAN	T	152;71;102;71	ENSP00000288532:A152T;ENSP00000449863:A71T;ENSP00000449874:A102T;ENSP00000450001:A71T	ENSP00000288532:A152T	A	-	1	0	COQ5	119438873	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	0.640000	0.24705	2.536000	0.85505	0.557000	0.71058	GCC	C|0.846;T|0.154	0.154	strong		0.448	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		T	120954490	C	T	120954490	3	4	22	1	0	0	0	0	1	0	0	0	3748	710	25	2	549	2	COQ5	12	120954490	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	191725	120954490	12897405	7003	12111										
POP5	51367	hgsc.bcm.edu	37	chr12	121019009	121019009	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctcagaactcggtcatcGaggcttaggcggcagcgggg	16	11	2	1	rs74750729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121019009G>C	ENST00000357500.4	-	2	107	c.72C>G	c.(70-72)ctC>ctG	p.L24L	POP5_ENST00000341039.2_Silent_p.L24L|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	24					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CTCGGTCATCGAGGCTTAGGC	0.672													G|||	8	0.00159744	0.0061	0.0	5008	,	,		16752	0.0		0.0	False		,,,				2504	0.0				p.L24L		Atlas-SNP	.											.	POP5	14	.	0			c.C72G						PASS	.	G	,	43,4363	44.6+/-78.6	0,43,2160	44	46	45		72,72	1.7	1	12	dbSNP_131	45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	POP5	NM_015918.3,NM_198202.1	,	0,43,6460	CC,CG,GG		0.0,0.9759,0.3306	,	24/164,24/114	121019009	43,12963	2203	4300	6503	SO:0001819	synonymous_variant	51367	exon2			GTCATCGAGGCTT	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.72C>G	12.37:g.121019009G>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_198202	A6NL80|Q53FS5|Q9Y2Q6	Silent	SNP	ENST00000357500.4	37	CCDS9202.1																																																																																			G|0.998;C|0.002	0.002	strong		0.672	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		C	121019009	G	C	121019009	2	2	22	1	0	0	0	0	0	0	0	1	12253	1045	37	4		4	POP5	12	121019009	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64519	121019009	12832886	7004	12112										
C12orf43	64897	hgsc.bcm.edu	37	chr12	121442833	121442833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagggctgtcgctttcggCggggttggggagactcttcc	18	9	1	1	rs34543757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121442833C>T	ENST00000288757.3	-	5	447	c.425G>A	c.(424-426)cGc>cAc	p.R142H	C12orf43_ENST00000366211.2_Missense_Mutation_p.R100H|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Missense_Mutation_p.R131H|C12orf43_ENST00000537817.1_Missense_Mutation_p.R143H|C12orf43_ENST00000445832.3_Missense_Mutation_p.R112H	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	142										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGCTTTCGGCGGGGTTGGGG	0.527													.|||	31	0.0061901	0.0227	0.0	5008	,	,		13357	0.0		0.0	False		,,,				2504	0.001				p.R142H		Atlas-SNP	.											.	C12orf43	30	.	0			c.G425A						PASS	.	C	HIS/ARG	121,4283		2,117,2083	64	67	66		425	-0.7	0	12	dbSNP_126	66	0,8594		0,0,4297	yes	missense	C12orf43	NM_022895.1	29	2,117,6380	TT,TC,CC		0.0,2.7475,0.9309	benign	142/263	121442833	121,12877	2202	4297	6499	SO:0001583	missense	64897	exon5			TTTCGGCGGGGTT	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.425G>A	12.37:g.121442833C>T	ENSP00000288757:p.Arg142His	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	100	57	0.57	NM_022895	Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	CCDS9210.1	15|15	0.006868131868131868|0.006868131868131868	15|15	0.03048780487804878|0.03048780487804878	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.27|10.27	1.304130|1.304130	0.23736|0.23736	0.027475|0.027475	0.0|0.0	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.49432	.|0.81;0.78;0.81;0.84;0.83	5.65|5.65	-0.735|-0.735	0.11137|0.11137	.|.	.|1.534110	.|0.03428	.|N	.|0.207380	T|T	0.11067|0.11067	0.0270|0.0270	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.19817	.|0.017;0.039;0.003;0.017;0.001	.|B;B;B;B;B	.|0.15052	.|0.007;0.012;0.003;0.007;0.002	T|T	0.03514|0.03514	-1.1029|-1.1029	5|10	.|0.17832	.|T	.|0.49	0.9065|0.9065	2.1|2.1	0.03677|0.03677	0.1243:0.427:0.2412:0.2075|0.1243:0.427:0.2412:0.2075	.|.	.|131;100;143;131;142	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|H	95|112;142;143;100;131;79;96	.|ENSP00000409788:R112H;ENSP00000288757:R142H;ENSP00000442224:R143H;ENSP00000437803:R131H;ENSP00000442041:R79H	.|ENSP00000288757:R142H	A|R	-|-	1|2	0|0	C12orf43|C12orf43	119927216|119927216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.008000|-0.008000	0.12788|0.12788	-0.335000|-0.335000	0.08451|0.08451	-0.158000|-0.158000	0.13435|0.13435	GCC|CGC	C|0.990;G|0.000;T|0.009	0.009	strong		0.527	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		T	121442833	C	T	121442833	3	4	22	1	0	0	0	0	1	0	0	0	1689	768	27	1	371	1	C12orf43	12	121442833	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	423824	121442833	12409062	7005	12113										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121615103	121615103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcattctccccaggccGctgtgttcatcgacttcctc	8	16	3	0	rs1718119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121615103G>A	ENST00000546057.1	+	11	1185	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Missense_Mutation_p.A178T|P2RX7_ENST00000541446.1_Missense_Mutation_p.A59T|P2RX7_ENST00000535250.1_Missense_Mutation_p.A258T	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	348			A -> T (in dbSNP:rs1718119). {ECO:0000269|PubMed:9826911}.		apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCCCAGGCCGCTGTGTTCAT	0.498													A|||	1615	0.322484	0.4599	0.2003	5008	,	,		20159	0.1419		0.3827	False		,,,				2504	0.3476				p.A348T		Atlas-SNP	.											P2RX7,NS,carcinoma,0,1	P2RX7	53	1	0			c.G1042A						scavenged	.	A	THR/ALA	2007,2399	614.4+/-392.4	454,1099,650	138	121	127		1042	5.6	1	12	dbSNP_89	127	3418,5182	639.4+/-399.5	723,1972,1605	yes	missense	P2RX7	NM_002562.5	58	1177,3071,2255	AA,AG,GG		39.7442,45.5515,41.7115	benign	348/596	121615103	5425,7581	2203	4300	6503	SO:0001583	missense	5027	exon11			CAGGCCGCTGTGT	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1042G>A	12.37:g.121615103G>A	ENSP00000442349:p.Ala348Thr	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	143	65	0.454545	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	673	0.30815018315018317	231	0.4695121951219512	76	0.20994475138121546	73	0.12762237762237763	293	0.3865435356200528	A	6.616	0.482145	0.12581	0.455515	0.397442	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	5.62	5.62	0.85841	.	0.382952	0.23821	N	0.044240	T	0.00012	0.0000	N	0.00112	-2.095	0.52501	P	4.199999999998649E-5	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38887	-0.9640	9	0.02654	T	1	.	7.4513	0.27240	0.8325:0.0:0.1675:0.0	rs1718119;rs2230910;rs17525154;rs52812840;rs58430687;rs1718119	178;59;258;348	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	T	348;178;258;59	ENSP00000442349:A348T;ENSP00000330696:A178T;ENSP00000442572:A258T;ENSP00000437471:A59T	ENSP00000330696:A178T	A	+	1	0	P2RX7	120099486	0.976000	0.34144	0.978000	0.43139	0.854000	0.48673	0.672000	0.25187	0.980000	0.38523	-0.332000	0.08345	GCT	G|0.628;N|0.001	.	strong		0.498	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		A	121615103	G	A	121615103	3	1	22	1	0	0	0	0	1	0	0	0	11345	1087	38	1	1084	1	P2RX7	12	121615103	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	172270	121615103	12236792	7006	12114										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121622115	121622115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgctttttcagagacctgCgatggacttcacagatttgt	9	9	2	2	rs28360459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121622115C>T	ENST00000546057.1	+	13	1441	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Missense_Mutation_p.A263V|P2RX7_ENST00000541446.1_Missense_Mutation_p.A144V|P2RX7_ENST00000535250.1_Missense_Mutation_p.A343V	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	433			A -> V (in dbSNP:rs28360459).		apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGACCTGCGATGGACTTC	0.453													C|||	177	0.0353435	0.1278	0.0115	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0				p.A433V		Atlas-SNP	.											.	P2RX7	53	.	0			c.C1298T						PASS	.	C	VAL/ALA	510,3896	235.5+/-248.0	29,452,1722	68	71	70		1298	-5.1	0	12	dbSNP_125	70	6,8594	3.7+/-12.6	0,6,4294	yes	missense	P2RX7	NM_002562.5	64	29,458,6016	TT,TC,CC		0.0698,11.5751,3.9674	benign	433/596	121622115	516,12490	2203	4300	6503	SO:0001583	missense	5027	exon13			GACCTGCGATGGA	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1298C>T	12.37:g.121622115C>T	ENSP00000442349:p.Ala433Val	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	28	11	0.392857	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	63	0.028846153846153848	58	0.11788617886178862	5	0.013812154696132596	0	0.0	0	0.0	C	2.926	-0.222035	0.06061	0.115751	6.98E-4	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.05139	4.39;4.0;4.17;3.49	5.21	-5.06	0.02946	.	2.346980	0.01797	N	0.032678	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.14805	0.011;0.001;0.011;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.42865	-0.9426	9	0.39692	T	0.17	0.4342	1.6799	0.02830	0.4149:0.2708:0.0915:0.2229	rs28360459	263;144;343;433	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	V	433;263;343;144	ENSP00000442349:A433V;ENSP00000330696:A263V;ENSP00000442572:A343V;ENSP00000437471:A144V	ENSP00000330696:A263V	A	+	2	0	P2RX7	120106498	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.486000	0.06513	-0.443000	0.07180	-0.218000	0.12543	GCG	C|0.965;T|0.035	0.035	strong		0.453	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		T	121622115	C	T	121622115	3	4	22	1	0	0	0	0	1	0	0	0	11345	768	27	1	1348	1	P2RX7	12	121622115	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7012	121622115	12229780	7007	12115										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121622380	121622380	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctggtcctgtccagacaCgtcctgcagttcctcctgct	9	15	0	1	rs2230913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121622380C>G	ENST00000546057.1	+	13	1706	c.1563C>G	c.(1561-1563)caC>caG	p.H521Q	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Missense_Mutation_p.H351Q|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000541446.1_Missense_Mutation_p.H232Q|P2RX7_ENST00000535250.1_Missense_Mutation_p.H431Q	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	521			H -> Q (in dbSNP:rs2230913).		apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTCCAGACACGTCCTGCAGT	0.627													C|||	223	0.0445288	0.1619	0.013	5008	,	,		17902	0.0		0.0	False		,,,				2504	0.0				p.H521Q		Atlas-SNP	.											.	P2RX7	53	.	0			c.C1563G						PASS	.	C	GLN/HIS	615,3791	246.2+/-254.9	43,529,1631	35	31	32		1563	-10.4	0	12	dbSNP_98	32	7,8593	4.3+/-15.6	0,7,4293	yes	missense	P2RX7	NM_002562.5	24	43,536,5924	GG,GC,CC		0.0814,13.9582,4.7824	benign	521/596	121622380	622,12384	2203	4300	6503	SO:0001583	missense	5027	exon13			CAGACACGTCCTG	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1563C>G	12.37:g.121622380C>G	ENSP00000442349:p.His521Gln	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	81	0.03708791208791209	75	0.1524390243902439	6	0.016574585635359115	0	0.0	0	0.0	C	0.024	-1.393088	0.01185	0.139582	8.14E-4	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.04454	4.5;4.13;4.29;3.62	5.21	-10.4	0.00318	.	2.829390	0.01180	N	0.007078	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40194	-0.9576	9	0.21540	T	0.41	.	3.5355	0.07793	0.0826:0.2354:0.3527:0.3294	rs2230913;rs2230913	351;232;431;521	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	Q	521;351;431;232	ENSP00000442349:H521Q;ENSP00000330696:H351Q;ENSP00000442572:H431Q;ENSP00000437471:H232Q	ENSP00000330696:H351Q	H	+	3	2	P2RX7	120106763	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-6.209000	0.00076	-4.138000	0.00070	-1.865000	0.00557	CAC	C|0.955;G|0.045;T|0.000	0.045	strong		0.627	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		G	121622380	C	G	121622380	3	3	22	1	0	0	0	0	1	0	0	0	11345	535	19	4	1613	4	P2RX7	12	121622380	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	265	121622380	12229515	7008	12116										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121622563	121622563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatccggaaagagtttccGaagagtgaagggcagtacag	15	6	0	3	rs1621388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121622563G>A	ENST00000546057.1	+	13	1889	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	P2RX7_ENST00000328963.5_Silent_p.P412P|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000541446.1_Silent_p.P293P|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.P492P	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	582					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGAGTTTCCGAAGAGTGAAG	0.607													C|||	1604	0.320288	0.4546	0.2003	5008	,	,		18772	0.1438		0.3837	False		,,,				2504	0.3405				p.P582P		Atlas-SNP	.											P2RX7,NS,carcinoma,0,1	P2RX7	53	1	0			c.G1746A						PASS	.	C		1901,2449		434,1033,708	8	7	7		1746	1.1	0.9	12	dbSNP_89	7	3244,5208		747,1750,1729	no	coding-synonymous	P2RX7	NM_002562.5		1181,2783,2437	AA,AG,GG		38.3814,43.7011,40.189		582/596	121622563	5145,7657	2175	4226	6401	SO:0001819	synonymous_variant	5027	exon13			GTTTCCGAAGAGT	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1746G>A	12.37:g.121622563G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	104	55	0.528846	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	CCDS9213.1																																																																																			G|0.649;A|0.351	0.351	strong		0.607	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		A	121622563	G	A	121622563	2	1	22	1	0	0	0	0	0	0	0	1	11345	1045	37	1		1	P2RX7	12	121622563	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	183	121622563	12229332	7009	12117										
CAMKK2	10645	hgsc.bcm.edu	37	chr12	121701681	121701681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggtacacctgctcaatGgggcccctgggctggatgca	13	13	1	0	rs2230776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121701681G>A	ENST00000324774.5	-	6	1515	c.687C>T	c.(685-687)ccC>ccT	p.P229P	CAMKK2_ENST00000412367.2_Silent_p.P229P|CAMKK2_ENST00000392473.2_Silent_p.P229P|CAMKK2_ENST00000404169.3_Silent_p.P229P|CAMKK2_ENST00000347034.2_Silent_p.P229P|CAMKK2_ENST00000402834.4_Silent_p.P229P|CAMKK2_ENST00000392474.2_Silent_p.P229P|CAMKK2_ENST00000538733.1_Silent_p.P229P|CAMKK2_ENST00000337174.3_Silent_p.P229P|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Silent_p.P229P	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGCTCAATGGGGCCCCTGG	0.612													G|||	498	0.0994409	0.0552	0.0793	5008	,	,		16720	0.2669		0.0765	False		,,,				2504	0.0245				p.P229P		Atlas-SNP	.											.	CAMKK2	87	.	0			c.C687T						PASS	.	G	,,,,,,	246,4160	143.1+/-178.2	6,234,1963	46	44	45		687,687,687,687,687,687,687	3.1	1	12	dbSNP_98	45	686,7914	170.3+/-221.5	23,640,3637	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMKK2	NM_006549.3,NM_153499.2,NM_153500.1,NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2	,,,,,,	29,874,5600	AA,AG,GG		7.9767,5.5833,7.1659	,,,,,,	229/589,229/542,229/499,229/534,229/491,229/546,229/542	121701681	932,12074	2203	4300	6503	SO:0001819	synonymous_variant	10645	exon6			CTCAATGGGGCCC	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.687C>T	12.37:g.121701681G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_153500	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	CCDS9216.1																																																																																			G|0.911;A|0.089	0.089	strong		0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		A	121701681	G	A	121701681	2	1	22	1	0	0	0	0	0	0	0	1	2607	1335	47	2		2	CAMKK2	12	121701681	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79118	121701681	12150214	7010	12118										
CAMKK2	10645	hgsc.bcm.edu	37	chr12	121712077	121712077	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggcctgggacccggaggTgtcaagggggacctcttggc	18	12	2	0	rs3817190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121712077T>A	ENST00000324774.5	-	2	1081	c.253A>T	c.(253-255)Acc>Tcc	p.T85S	CAMKK2_ENST00000404169.3_Missense_Mutation_p.T85S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.T85S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T85S|CAMKK2_ENST00000412367.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T85S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T85S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	85			T -> S (in dbSNP:rs3817190). {ECO:0000269|PubMed:11395482, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9872452}.		calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCGGAGGTGTCAAGGGGG	0.692													T|||	2062	0.411741	0.6225	0.3084	5008	,	,		13569	0.2976		0.4076	False		,,,				2504	0.3221				p.T85S		Atlas-SNP	.											CAMKK2_ENST00000392473,NS,carcinoma,0,2	CAMKK2	87	2	0			c.A253T						PASS	.	T	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	2469,1931		700,1069,431	20	24	23		253,253,253,253,253,253,253	-0.6	0	12	dbSNP_107	23	3539,5057		752,2035,1511	no	missense,missense,missense,missense,missense,missense,missense	CAMKK2	NM_006549.3,NM_153499.2,NM_153500.1,NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2	58,58,58,58,58,58,58	1452,3104,1942	AA,AT,TT		41.1703,43.8864,46.2296	benign,benign,benign,benign,benign,benign,benign	85/589,85/542,85/499,85/534,85/491,85/546,85/542	121712077	6008,6988	2200	4298	6498	SO:0001583	missense	10645	exon2			CGGAGGTGTCAAG	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.253A>T	12.37:g.121712077T>A	ENSP00000312741:p.Thr85Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_153500	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	936	0.42857142857142855	318	0.6463414634146342	121	0.3342541436464088	186	0.32517482517482516	311	0.4102902374670185	T	0.231	-1.020843	0.02061	0.561136	0.411703	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.6;-0.61;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;2.03;1.56	4.17	-0.591	0.11675	.	1.005170	0.08018	N	0.991504	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.001	T	0.43734	-0.9373	9	0.10902	T	0.67	-0.6485	2.7347	0.05237	0.3091:0.4379:0.152:0.101	rs3817190;rs17852337;rs3817190	85;85;85;85;85;85;85	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	S	85;85;85;85;85;85;85;68;85;85;85;85	ENSP00000376266:T85S;ENSP00000321230:T85S;ENSP00000445944:T85S;ENSP00000336634:T85S;ENSP00000312741:T85S;ENSP00000388368:T85S;ENSP00000384600:T85S;ENSP00000388273:T85S;ENSP00000376265:T85S;ENSP00000444894:T85S;ENSP00000445400:T85S	ENSP00000312741:T85S	T	-	1	0	CAMKK2	120196460	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.775000	0.04679	0.061000	0.16311	-0.464000	0.05259	ACC	T|0.543;A|0.457	0.457	strong		0.692	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		A	121712077	T	A	121712077	3	1	22	1	0	0	0	0	1	0	0	0	2607	1696	59	5	1587	5	CAMKK2	12	121712077	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10396	121712077	12139818	7011	12119										
RNF34	80196	hgsc.bcm.edu	37	chr12	121858078	121858080	+	In_Frame_Del	DEL	GAT	GAT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacttcagcaaacacagaaGatgatgatgacgacgatgat					rs370767127|rs72059744|rs185279212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121858078_121858080delGAT	ENST00000392464.2	+	4	736_738	c.667_669delGAT	c.(667-669)gatdel	p.D229del	RNF34_ENST00000361234.5_In_Frame_Del_p.D229del|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_In_Frame_Del_p.D230del					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AAACACAGAAgatgatgatgacg	0.404														186	0.0371406	0.1339	0.013	5008	,	,		22592	0.0		0.0	False		,,,				2504	0.0				p.223_224del		Pindel,Atlas-Indel	.											.	RNF34	54	.	0			c.669_671del						PASS	.		,	485,3779		29,427,1676					,	-2.2	0.9		dbSNP_130	70	6,8246		0,6,4120	no	coding,coding	RNF34	NM_194271.1,NM_025126.2	,	29,433,5796	A1A1,A1R,RR		0.0727,11.3743,3.923	,	,		491,12025				SO:0001651	inframe_deletion	80196	exon5			.	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.667_669delGAT	12.37:g.121858084_121858086delGAT	ENSP00000376257:p.Asp229del	Somatic	66	.	.		WXS	Illumina HiSeq	Phase_I	92	35	0.38	NM_194271		In_Frame_Del	DEL	ENST00000392464.2	37																																																																																				GAT|0.969;-|0.031	0.031	strong		0.404	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		-	121858080	GAT	-	121858078	7	5	22	1	0	1	0	1	0	0	0	0	13489	942	33	0	694	0	RNF34	12	121858078	In_Frame_Del	DEL	GAT	TCGA-G8-6324-01A-11D-2210-10	146001	121858078	11993817	7012	12120										
KDM2B	84678	hgsc.bcm.edu	37	chr12	121877739	121877739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatagactggtcggtgacGtggttacagtaactgaggtg	15	5	0	4	rs35674891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:121877739G>A	ENST00000377071.4	-	22	3822	c.3750C>T	c.(3748-3750)caC>caT	p.H1250H	KDM2B_ENST00000542973.1_Silent_p.H618H|KDM2B_ENST00000377069.4_Silent_p.H1181H|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1250					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCGGTGACGTGGTTACAGT	0.602													G|||	75	0.014976	0.0567	0.0	5008	,	,		17032	0.0		0.0	False		,,,				2504	0.0				p.H1250H		Atlas-SNP	.											.	KDM2B	218	.	0			c.C3750T						PASS	.	G	,	235,4127		6,223,1952	123	146	138		3543,3750	-0.6	0.6	12	dbSNP_126	138	2,8542		0,2,4270	no	coding-synonymous,coding-synonymous	KDM2B	NM_001005366.1,NM_032590.4	,	6,225,6222	AA,AG,GG		0.0234,5.3874,1.8364	,	1181/1266,1250/1337	121877739	237,12669	2181	4272	6453	SO:0001819	synonymous_variant	84678	exon22			GGTGACGTGGTTA	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3750C>T	12.37:g.121877739G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	122	54	0.442623	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	CCDS41850.1																																																																																			G|0.990;A|0.010	0.010	strong		0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	121877739	G	A	121877739	2	1	22	1	0	0	0	0	0	0	0	1	8125	1136	40	1		1	KDM2B	12	121877739	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19661	121877739	11974156	7013	12121										
TMEM120B	144404	hgsc.bcm.edu	37	chr12	122186317	122186317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcggcaggacgtcttcttcGacatggaggcctacctgccc	12	14	2	0	rs28655666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122186317G>A	ENST00000449592.2	+	3	375	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	92				D -> N (in Ref. 2; AAI27770). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CGTCTTCTTCGACATGGAGGC	0.612													G|||	2133	0.425919	0.2103	0.4481	5008	,	,		18243	0.5179		0.5467	False		,,,				2504	0.4826				p.D92N		Atlas-SNP	.											TMEM120B_ENST00000449592,brain,glioma,0,2	TMEM120B	43	2	0			c.G274A						PASS	.	G	ASN/ASP	1071,3125		161,749,1188	57	62	60		274	3.5	1	12	dbSNP_125	60	4584,3818		1263,2058,880	yes	missense	TMEM120B	NM_001080825.2	23	1424,2807,2068	AA,AG,GG		45.4416,25.5243,44.8881	benign	92/340	122186317	5655,6943	2098	4201	6299	SO:0001583	missense	144404	exon3			TTCTTCGACATGG	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.274G>A	12.37:g.122186317G>A	ENSP00000404991:p.Asp92Asn	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	202	90	0.445545	NM_001080825	A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	CCDS41852.1	1017	0.46565934065934067	112	0.22764227642276422	172	0.47513812154696133	310	0.541958041958042	423	0.558047493403694	G	16.64	3.180210	0.57800	0.255243	0.545584	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.36340	1.26;1.26	5.31	3.45	0.39498	.	0.145167	0.64402	D	0.000012	T	0.00012	0.0000	L	0.50333	1.59	0.09310	P	1.0	B	0.13145	0.007	B	0.18561	0.022	T	0.44283	-0.9338	9	0.54805	T	0.06	-29.1623	11.9916	0.53178	0.1553:0.0:0.8447:0.0	rs28655666	92	A0PK00	T120B_HUMAN	N	92;71	ENSP00000404991:D92N;ENSP00000442105:D71N	ENSP00000345152:D92N	D	+	1	0	TMEM120B	120670700	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.310000	0.65780	1.384000	0.46424	-0.250000	0.11733	GAC	G|0.502;A|0.498	0.498	strong		0.612	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		A	122186317	G	A	122186317	3	1	22	1	0	0	0	0	1	0	0	0	16031	1058	37	1	284	1	TMEM120B	12	122186317	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	308578	122186317	11665578	7014	12122										
WDR66	144406	hgsc.bcm.edu	37	chr12	122392038	122392038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaacagaccttcaacaagCttgtgggaaagtttagccag	10	8	1	2	rs11043265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122392038C>T	ENST00000288912.4	+	10	2187	c.1333C>T	c.(1333-1335)Ctt>Ttt	p.L445F	WDR66_ENST00000397454.2_Missense_Mutation_p.L445F	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	445			L -> F (in dbSNP:rs11043265).				calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTTCAACAAGCTTGTGGGAAA	0.368													C|||	1555	0.310503	0.6309	0.0749	5008	,	,		16777	0.2937		0.0527	False		,,,				2504	0.3272				p.L445F	Esophageal Squamous(85;849 1794 49757 52143)	Atlas-SNP	.											.	WDR66	143	.	0			c.C1333T						PASS	.	C	PHE/LEU,PHE/LEU	1972,1772		543,886,443	81	77	78		1333,1333	3.5	1	12	dbSNP_120	78	372,7830		7,358,3736	yes	missense,missense	WDR66	NM_001178003.1,NM_144668.5	22,22	550,1244,4179	TT,TC,CC		4.5355,47.3291,19.6216	possibly-damaging,possibly-damaging	445/942,445/1150	122392038	2344,9602	1872	4101	5973	SO:0001583	missense	144406	exon10			AACAAGCTTGTGG	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1333C>T	12.37:g.122392038C>T	ENSP00000288912:p.Leu445Phe	Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	70	69	0.985714	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	527	0.2413003663003663	304	0.6178861788617886	32	0.08839779005524862	149	0.26048951048951047	42	0.055408970976253295	C	11.39	1.624335	0.28889	0.526709	0.045355	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.53640	0.61;0.61	5.57	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.877793	0.10201	N	0.703403	T	0.00012	0.0000	L	0.50333	1.59	0.47698	P	5.060000000000064E-4	B	0.33755	0.424	B	0.36378	0.223	T	0.40739	-0.9547	9	0.11485	T	0.65	.	9.323	0.37975	0.3608:0.5301:0.1091:0.0	rs11043265;rs52815107;rs58579724;rs11043265	445	Q8TBY9	WDR66_HUMAN	F	445	ENSP00000288912:L445F;ENSP00000380595:L445F	ENSP00000288912:L445F	L	+	1	0	WDR66	120876421	0.026000	0.19158	0.979000	0.43373	0.990000	0.78478	0.184000	0.16939	1.295000	0.44724	0.491000	0.48974	CTT	C|0.752;T|0.248	0.248	strong		0.368	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		T	122392038	C	T	122392038	3	4	22	1	0	0	0	0	1	0	0	0	17314	797	28	2	1367	2	WDR66	12	122392038	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	205721	122392038	11459857	7015	12123										
WDR66	144406	hgsc.bcm.edu	37	chr12	122413196	122413196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgaagacttgaccccaTtctatggtctgctgtctggt	13	9	3	3	rs77422261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122413196T>C	ENST00000288912.4	+	18	3672	c.2818T>C	c.(2818-2820)Ttc>Ctc	p.F940L		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	940							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTTGACCCCATTCTATGGTCT	0.473													T|||	564	0.11262	0.121	0.0159	5008	,	,		19501	0.2321		0.0239	False		,,,				2504	0.138				p.F940L	Esophageal Squamous(85;849 1794 49757 52143)	Atlas-SNP	.											.	WDR66	143	.	0			c.T2818C						PASS	.	T	LEU/PHE	461,3795		25,411,1692	97	103	101		2818	5.5	1	12	dbSNP_131	101	205,8269		3,199,4035	yes	missense	WDR66	NM_144668.5	22	28,610,5727	CC,CT,TT		2.4192,10.8318,5.2317	probably-damaging	940/1150	122413196	666,12064	2128	4237	6365	SO:0001583	missense	144406	exon18			ACCCCATTCTATG	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2818T>C	12.37:g.122413196T>C	ENSP00000288912:p.Phe940Leu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	167	99	0.592814	NM_144668	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	210	0.09615384615384616	63	0.12804878048780488	5	0.013812154696132596	123	0.21503496503496503	19	0.025065963060686015	T	28.0	4.880242	0.91740	0.108318	0.024192	ENSG00000158023	ENST00000288912	T	0.08546	3.08	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.63169	1.94	0.09310	P	1.0	P	0.45283	0.855	P	0.48304	0.573	T	0.18304	-1.0341	9	0.87932	D	0	.	15.5686	0.76313	0.0:0.0:0.0:1.0	.	940	Q8TBY9	WDR66_HUMAN	L	940	ENSP00000288912:F940L	ENSP00000288912:F940L	F	+	1	0	WDR66	120897579	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	6.242000	0.72376	2.083000	0.62718	0.460000	0.39030	TTC	T|0.928;C|0.072	0.072	strong		0.473	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		C	122413196	T	C	122413196	3	2	22	1	0	0	0	0	1	0	0	0	17314	1493	52	2	2943	2	WDR66	12	122413196	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21158	122413196	11438699	7016	12124										
MLXIP	22877	hgsc.bcm.edu	37	chr12	122618417	122618417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagccacggttaacttttGtgcaccccaaacctgtatcc	6	16	0	0	rs34702867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122618417G>T	ENST00000319080.7	+	9	1747	c.1615G>T	c.(1615-1617)Gtg>Ttg	p.V539L	MLXIP_ENST00000538698.1_Missense_Mutation_p.V146L|MLXIP_ENST00000377037.2_Missense_Mutation_p.V129L					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GTTAACTTTTGTGCACCCCAA	0.607													G|||	194	0.038738	0.1422	0.0086	5008	,	,		14499	0.0		0.0	False		,,,				2504	0.0				p.V539L	Esophageal Squamous(105;787 1493 16200 18566 52466)	Atlas-SNP	.											.	MLXIP	46	.	0			c.G1615T						PASS	.	G	LEU/VAL	448,3490		28,392,1549	22	26	25		1205	4.2	1	12	dbSNP_126	25	6,8264		0,6,4129	yes	missense	MLXIP	NM_014938.3	32	28,398,5678	TT,TG,GG		0.0726,11.3763,3.7189	benign	539/920	122618417	454,11754	1969	4135	6104	SO:0001583	missense	22877	exon9			ACTTTTGTGCACC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1615G>T	12.37:g.122618417G>T	ENSP00000312834:p.Val539Leu	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	38	14	0.368421	NM_014938		Missense_Mutation	SNP	ENST00000319080.7	37		73	0.033424908424908424	70	0.14227642276422764	3	0.008287292817679558	0	0.0	0	0.0	G	14.85	2.657247	0.47467	0.113763	7.26E-4	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	D;D;D	0.84516	-1.86;-1.86;-1.86	5.09	4.19	0.49359	.	0.332806	0.28784	N	0.014156	T	0.02012	0.0063	.	.	.	0.24861	N	0.992344	B;B	0.31318	0.319;0.1	B;B	0.34301	0.179;0.03	T	0.00812	-1.1556	9	0.28530	T	0.3	-11.9952	12.6399	0.56705	0.0813:0.0:0.9187:0.0	rs34702867	539;539	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	L	539;146;146;129	ENSP00000312834:V539L;ENSP00000440769:V146L;ENSP00000366236:V129L	ENSP00000312834:V539L	V	+	1	0	MLXIP	121184370	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	4.310000	0.59141	1.097000	0.41459	0.655000	0.94253	GTG	G|0.973;T|0.027	0.027	strong		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		T	122618417	G	T	122618417	3	4	22	1	0	0	0	0	1	0	0	0	9636	1377	48	4	1649	4	MLXIP	12	122618417	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205221	122618417	11233478	7017	12125										
IL31	386653	hgsc.bcm.edu	37	chr12	122658492	122658492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcaacgtgtgggaggccaGccagcctcccaggcagcaga	16	13	0	1	rs56719421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122658492G>A	ENST00000377035.1	-	2	90	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	22					immune system process (GO:0002376)	extracellular space (GO:0005615)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TGGGAGGCCAGCCAGCCTCCC	0.547													G|||	365	0.0728834	0.2035	0.0331	5008	,	,		19213	0.006		0.0219	False		,,,				2504	0.046				p.L22L		Atlas-SNP	.											IL31,colon,carcinoma,+1,1	IL31	23	1	0			c.C64T						PASS	.	G	,	730,3676	300.4+/-286.3	65,600,1538	81	77	78		64,	1.8	0	12	dbSNP_129	78	232,8368	95.0+/-156.8	1,230,4069	no	coding-synonymous,intron	LRRC43,IL31	NM_001014336.1,NM_152759.4	,	66,830,5607	AA,AG,GG		2.6977,16.5683,7.3966	,	22/165,	122658492	962,12044	2203	4300	6503	SO:0001819	synonymous_variant	386653	exon2			AGGCCAGCCAGCC	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"Interleukins and interleukin receptors"	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.64C>T	12.37:g.122658492G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	146	76	0.520548	NM_001014336	A2RUQ1	Silent	SNP	ENST00000377035.1	37	CCDS31919.1																																																																																			G|0.928;A|0.072	0.072	strong		0.547	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336		A	122658492	G	A	122658492	2	1	22	1	0	0	0	0	0	0	0	1	7690	962	34	2		2	IL31	12	122658492	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40075	122658492	11193403	7018	12126										
LRRC43	254050	hgsc.bcm.edu	37	chr12	122674780	122674780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgcgactcctggtgctgCagggaaacccactggccttg	12	14	0	0	rs11060094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122674780C>A	ENST00000339777.4	+	5	794	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	LRRC43_ENST00000425921.1_Missense_Mutation_p.Q71K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	256			Q -> K (in dbSNP:rs11060094). {ECO:0000269|PubMed:14702039}.							NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGGTGCTGCAGGGAAACCC	0.637													C|||	671	0.133986	0.0953	0.2666	5008	,	,		20331	0.0357		0.2038	False		,,,				2504	0.1217				p.Q256K		Atlas-SNP	.											.	LRRC43	105	.	0			c.C766A						PASS	.	C	LYS/GLN,LYS/GLN	436,3902		20,396,1753	91	103	99		766,211	4.9	1	12	dbSNP_120	99	1763,6753		199,1365,2694	yes	missense,missense	LRRC43	NM_001098519.1,NM_152759.4	53,53	219,1761,4447	AA,AC,CC		20.7022,10.0507,17.1075	benign,benign	256/657,71/472	122674780	2199,10655	2169	4258	6427	SO:0001583	missense	254050	exon5			GTGCTGCAGGGAA	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.766C>A	12.37:g.122674780C>A	ENSP00000344233:p.Gln256Lys	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	151	71	0.470199	NM_001098519	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	303	0.13873626373626374	49	0.09959349593495935	98	0.27071823204419887	15	0.026223776223776224	141	0.18601583113456466	C	22.3	4.268532	0.80469	0.100507	0.207022	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.23348	1.91;1.91;1.91	4.95	4.95	0.65309	.	0.068949	0.64402	D	0.000017	T	0.00012	0.0000	M	0.63208	1.945	0.26746	P	0.9702966	D	0.58268	0.982	D	0.70227	0.968	T	0.01294	-1.1393	9	0.48119	T	0.1	-55.8197	17.807	0.88604	0.0:1.0:0.0:0.0	rs11060094;rs57783714;rs11060094	256	Q8N309	LRC43_HUMAN	K	71;256;127;71	ENSP00000438751:Q71K;ENSP00000344233:Q256K;ENSP00000416628:Q71K	ENSP00000289014:Q127K	Q	+	1	0	LRRC43	121240733	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.532000	0.60608	2.309000	0.77851	0.561000	0.74099	CAG	C|0.865;A|0.135	0.135	strong		0.637	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		A	122674780	C	A	122674780	3	1	22	1	0	0	0	0	1	0	0	0	9001	711	25	4	784	4	LRRC43	12	122674780	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16288	122674780	11177115	7019	12127										
LRRC43	254050	hgsc.bcm.edu	37	chr12	122674807	122674807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccactggccttggtgcccTactaccgcggcctcaccatc	8	19	1	0	rs77473460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122674807T>C	ENST00000339777.4	+	5	821	c.793T>C	c.(793-795)Tac>Cac	p.Y265H	LRRC43_ENST00000425921.1_Missense_Mutation_p.Y80H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	265	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTTGGTGCCCTACTACCGCGG	0.637													T|||	195	0.0389377	0.1415	0.0101	5008	,	,		20541	0.0		0.001	False		,,,				2504	0.0				p.Y265H		Atlas-SNP	.											.	LRRC43	105	.	0			c.T793C						PASS	.	T	HIS/TYR,HIS/TYR	502,3826		30,442,1692	84	95	92		793,238	-1.6	0.9	12	dbSNP_131	92	4,8530		0,4,4263	yes	missense,missense	LRRC43	NM_001098519.1,NM_152759.4	83,83	30,446,5955	CC,CT,TT		0.0469,11.5989,3.9341	possibly-damaging,possibly-damaging	265/657,80/472	122674807	506,12356	2164	4267	6431	SO:0001583	missense	254050	exon5			GTGCCCTACTACC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.793T>C	12.37:g.122674807T>C	ENSP00000344233:p.Tyr265His	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_001098519	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	78	0.03571428571428571	75	0.1524390243902439	3	0.008287292817679558	0	0.0	0	0.0	T	9.271	1.045795	0.19748	0.115989	4.69E-4	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.23348	1.91;1.91;1.91	5.22	-1.59	0.08453	.	0.926504	0.09255	N	0.827363	T	0.00073	0.0002	N	0.13043	0.29	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.37911	-0.9685	10	0.15499	T	0.54	-14.8888	1.3937	0.02256	0.1943:0.3528:0.2254:0.2275	.	265	Q8N309	LRC43_HUMAN	H	80;265;136;80	ENSP00000438751:Y80H;ENSP00000344233:Y265H;ENSP00000416628:Y80H	ENSP00000289014:Y136H	Y	+	1	0	LRRC43	121240760	0.000000	0.05858	0.934000	0.37439	0.988000	0.76386	0.172000	0.16704	0.039000	0.15632	0.459000	0.35465	TAC	T|0.977;C|0.023	0.023	strong		0.637	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		C	122674807	T	C	122674807	3	2	22	1	0	0	0	0	1	0	0	0	9001	1522	53	3	811	3	LRRC43	12	122674807	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27	122674807	11177088	7020	12128										
B3GNT4	79369	hgsc.bcm.edu	37	chr12	122689181	122689181	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttcatgcttcctccccagCcttccgcagcccaccaggga	8	19	1	0	rs7136356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122689181C>G	ENST00000324189.4	+	2	372	c.16C>G	c.(16-18)Cct>Gct	p.P6A	B3GNT4_ENST00000546192.1_Intron|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_5'UTR	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	6			P -> A (in dbSNP:rs7136356). {ECO:0000269|PubMed:15489334}.		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCCTCCCCAGCCTTCCGCAGC	0.662													C|||	2278	0.454872	0.5023	0.2752	5008	,	,		11614	0.6706		0.2684	False		,,,				2504	0.4877				p.P6A		Atlas-SNP	.											.	B3GNT4	35	.	0			c.C16G						PASS	.	C	ALA/PRO	2024,2380	553.3+/-378.7	455,1114,633	43	43	43		16	0.3	0	12	dbSNP_116	43	2591,6009	406.7+/-348.9	387,1817,2096	yes	missense	B3GNT4	NM_030765.2	27	842,2931,2729	GG,GC,CC		30.1279,45.9582,35.4891	benign	6/379	122689181	4615,8389	2202	4300	6502	SO:0001583	missense	79369	exon2			CCCCAGCCTTCCG	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.16C>G	12.37:g.122689181C>G	ENSP00000319636:p.Pro6Ala	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_030765	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	CCDS9227.1	982	0.44963369963369965	235	0.47764227642276424	110	0.30386740331491713	412	0.7202797202797203	225	0.29683377308707126	C	5.415	0.261747	0.10239	0.459582	0.301279	ENSG00000176383	ENST00000324189	T	0.30981	1.51	1.27	0.349	0.16032	.	4.240170	0.01356	N	0.012079	T	0.00012	0.0000	N	0.14661	0.345	0.50813	P	1.0799999999999699E-4	B	0.09022	0.002	B	0.04013	0.001	T	0.44574	-0.9319	9	0.33141	T	0.24	.	3.4869	0.07624	0.0:0.729:0.0:0.271	rs7136356;rs17855557;rs60259781	6	Q9C0J1	B3GN4_HUMAN	A	6	ENSP00000319636:P6A	ENSP00000319636:P6A	P	+	1	0	B3GNT4	121255134	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	-0.098000	0.11024	0.106000	0.17784	0.313000	0.20887	CCT	C|0.628;G|0.372	0.372	strong		0.662	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		G	122689181	C	G	122689181	3	3	22	1	0	0	0	0	1	0	0	0	1259	739	26	4	18	4	B3GNT4	12	122689181	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14374	122689181	11162714	7021	12129										
B3GNT4	79369	hgsc.bcm.edu	37	chr12	122691058	122691058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtgtctagcgcctctcTgtccctgcctagccgtcacc	8	18	3	0	rs35203505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122691058T>C	ENST00000324189.4	+	3	616	c.260T>C	c.(259-261)cTg>cCg	p.L87P	B3GNT4_ENST00000535274.1_Missense_Mutation_p.L62P|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.L62P	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	87			L -> P (in dbSNP:rs35203505).		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		AGCGCCTCTCTGTCCCTGCCT	0.592													T|||	277	0.0553115	0.1982	0.0202	5008	,	,		16804	0.0		0.001	False		,,,				2504	0.0				p.L87P		Atlas-SNP	.											.	B3GNT4	35	.	0			c.T260C						PASS	.	T	PRO/LEU	794,3612	319.1+/-295.9	77,640,1486	236	227	230		260	-0.7	0.9	12	dbSNP_126	230	7,8593	5.7+/-21.5	0,7,4293	yes	missense	B3GNT4	NM_030765.2	98	77,647,5779	CC,CT,TT		0.0814,18.0209,6.1587	benign	87/379	122691058	801,12205	2203	4300	6503	SO:0001583	missense	79369	exon3			CCTCTCTGTCCCT	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.260T>C	12.37:g.122691058T>C	ENSP00000319636:p.Leu87Pro	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	187	82	0.438503	NM_030765	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	CCDS9227.1	118	0.05402930402930403	112	0.22764227642276422	6	0.016574585635359115	0	0.0	0	0.0	T	7.052	0.564562	0.13498	0.180209	8.14E-4	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.36878	1.36;1.23;1.23	4.7	-0.663	0.11410	.	0.519308	0.14506	N	0.315425	T	0.00012	0.0000	L	0.40543	1.245	0.51233	P	9.00000000000345E-5	P	0.45283	0.855	B	0.41571	0.36	T	0.15263	-1.0443	9	0.30078	T	0.28	.	1.7591	0.02988	0.1302:0.2171:0.1337:0.519	rs35203505	87	Q9C0J1	B3GN4_HUMAN	P	87;62;62	ENSP00000319636:L87P;ENSP00000438840:L62P;ENSP00000444534:L62P	ENSP00000319636:L87P	L	+	2	0	B3GNT4	121257011	0.000000	0.05858	0.850000	0.33497	0.397000	0.30659	0.008000	0.13197	0.247000	0.21414	0.533000	0.62120	CTG	T|0.944;C|0.056	0.056	strong		0.592	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		C	122691058	T	C	122691058	3	2	22	1	0	0	0	0	1	0	0	0	1259	1580	55	3	266	3	B3GNT4	12	122691058	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1877	122691058	11160837	7022	12130										
DIABLO	56616	hgsc.bcm.edu	37	chr12	122692958	122692958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaggtaggcctcctgctcCgactcagcccgctcctcccc	9	21	1	0	rs35426428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122692958C>T	ENST00000443649.3	-	7	1507	c.690G>A	c.(688-690)tcG>tcA	p.S230S	DIABLO_ENST00000267169.6_Silent_p.S177S|RP11-512M8.5_ENST00000535844.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000464942.2_Silent_p.S177S|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000413918.1_Silent_p.S186S|DIABLO_ENST00000353548.6_Silent_p.S186S	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	230					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)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CCTCCTGCTCCGACTCAGCCC	0.617													C|||	454	0.090655	0.3283	0.0274	5008	,	,		20976	0.0		0.001	False		,,,				2504	0.0				p.S230S		Atlas-SNP	.											DIABLO,NS,carcinoma,-2,1	DIABLO	16	1	0			c.G690A						PASS	.	C	,	1365,3041	452.8+/-350.1	219,927,1057	113	107	109		690,558	-6.1	0	12	dbSNP_126	109	23,8577	16.0+/-53.3	0,23,4277	no	coding-synonymous,coding-synonymous	DIABLO	NM_019887.4,NM_138929.3	,	219,950,5334	TT,TC,CC		0.2674,30.9805,10.672	,	230/240,186/196	122692958	1388,11618	2203	4300	6503	SO:0001819	synonymous_variant	56616	exon7			CTGCTCCGACTCA	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"second mitochondria-derived activator of caspase"	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.690G>A	12.37:g.122692958C>T		Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	168	168	1	NM_019887	B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Silent	SNP	ENST00000443649.3	37	CCDS9228.1																																																																																			C|0.906;T|0.094	0.094	strong		0.617	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		T	122692958	C	T	122692958	2	4	22	1	0	0	0	0	0	0	0	1	4517	639	23	1		1	DIABLO	12	122692958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1900	122692958	11158937	7023	12131										
VPS33A	65082	hgsc.bcm.edu	37	chr12	122720423	122720423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcggtttcagcaggccGgccttctccaggttgtgtaa	13	11	3	0	rs34461198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:122720423G>A	ENST00000267199.4	-	11	1462	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RP11-512M8.5_ENST00000535844.1_Silent_p.A411A	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	450					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCAGCAGGCCGGCCTTCTCCA	0.478													G|||	232	0.0463259	0.1702	0.0086	5008	,	,		18772	0.0		0.001	False		,,,				2504	0.0				p.A450A		Atlas-SNP	.											.	VPS33A	61	.	0			c.C1350T						PASS	.	G		696,3710	291.8+/-281.7	53,590,1560	208	192	197		1350	-11.7	0	12	dbSNP_126	197	17,8583	11.9+/-42.8	0,17,4283	no	coding-synonymous	VPS33A	NM_022916.4		53,607,5843	AA,AG,GG		0.1977,15.7966,5.4821		450/597	122720423	713,12293	2203	4300	6503	SO:0001819	synonymous_variant	65082	exon11			CAGGCCGGCCTTC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1350C>T	12.37:g.122720423G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	253	125	0.494071	NM_022916	Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																			G|0.944;A|0.056	0.056	strong		0.478	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			A	122720423	G	A	122720423	2	1	22	1	0	0	0	0	0	0	0	1	17198	1103	39	1		1	VPS33A	12	122720423	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27465	122720423	11131472	7024	12132										
KNTC1	9735	hgsc.bcm.edu	37	chr12	123030788	123030788	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaaggaatgacagttaaGaaccttattgatgcagagat	10	4	0	5	rs7968222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123030788G>T	ENST00000333479.7	+	9	912	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KNTC1_ENST00000450485.2_Missense_Mutation_p.K208N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	245			K -> N (in dbSNP:rs7968222).		mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGACAGTTAAGAACCTTATTG	0.308													G|||	672	0.134185	0.3011	0.0735	5008	,	,		16728	0.006		0.1014	False		,,,				2504	0.1176				p.K245N		Atlas-SNP	.											.	KNTC1	182	.	0			c.G735T						PASS	.	G	ASN/LYS	976,2648		137,702,973	52	50	50		735	4.6	1	12	dbSNP_116	50	852,7294		31,790,3252	yes	missense	KNTC1	NM_014708.4	94	168,1492,4225	TT,TG,GG		10.4591,26.9316,15.531	possibly-damaging	245/2210	123030788	1828,9942	1812	4073	5885	SO:0001583	missense	9735	exon9			AGTTAAGAACCTT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.735G>T	12.37:g.123030788G>T	ENSP00000328236:p.Lys245Asn	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	142	63	0.443662	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	270	0.12362637362637363	153	0.31097560975609756	34	0.09392265193370165	2	0.0034965034965034965	81	0.10686015831134564	G	12.80	2.047297	0.36085	0.269316	0.104591	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.44482	0.92;0.92	5.51	4.61	0.57282	.	0.362044	0.29995	N	0.010674	T	0.00012	0.0000	L	0.51422	1.61	0.09310	P	0.9999999999940533	B;P	0.48764	0.421;0.915	B;B	0.36922	0.157;0.236	T	0.40924	-0.9537	9	0.21540	T	0.41	-15.7297	7.5578	0.27835	0.249:0.0:0.751:0.0	rs7968222;rs17883020;rs52834023;rs61051270;rs7968222	208;245	E7ES84;P50748	.;KNTC1_HUMAN	N	208;245	ENSP00000397992:K208N;ENSP00000328236:K245N	ENSP00000328236:K245N	K	+	3	2	KNTC1	121596741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.372000	0.34261	1.322000	0.45245	0.650000	0.86243	AAG	G|0.867;T|0.133	0.133	strong		0.308	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123030788	G	T	123030788	3	4	22	1	0	0	0	0	1	0	0	0	8428	933	33	4	765	4	KNTC1	12	123030788	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	310365	123030788	10821107	7025	12133										
KNTC1	9735	hgsc.bcm.edu	37	chr12	123089955	123089955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctatgcccttcaacaaaacCtggtgaagtaagtacttgct	8	10	1	1	rs7310898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123089955C>T	ENST00000333479.7	+	51	5666	c.5489C>T	c.(5488-5490)cCt>cTt	p.P1830L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.P255L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1830			P -> L (in dbSNP:rs7310898).		mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCAACAAAACCTGGTGAAGTA	0.393													C|||	196	0.0391374	0.143	0.0101	5008	,	,		16684	0.0		0.0	False		,,,				2504	0.0				p.P1830L		Atlas-SNP	.											KNTC1,caecum,carcinoma,0,1	KNTC1	182	1	0			c.C5489T						PASS	.	C	LEU/PRO	433,3323		20,393,1465	57	56	56		5489	3.8	0.1	12	dbSNP_116	56	4,8242		0,4,4119	yes	missense	KNTC1	NM_014708.4	98	20,397,5584	TT,TC,CC		0.0485,11.5282,3.6411	possibly-damaging	1830/2210	123089955	437,11565	1878	4123	6001	SO:0001583	missense	9735	exon51			CAAAACCTGGTGA		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5489C>T	12.37:g.123089955C>T	ENSP00000328236:p.Pro1830Leu	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	172	71	0.412791	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	69	0.03159340659340659	64	0.13008130081300814	5	0.013812154696132596	0	0.0	0	0.0	C	25.8	4.677569	0.88445	0.115282	4.85E-4	ENSG00000184445	ENST00000333479;ENST00000537348;ENST00000546125	T;T;T	0.30182	1.54;1.54;1.54	5.64	3.79	0.43588	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.330869	0.36932	N	0.002322	T	0.00328	0.0010	L	0.44542	1.39	0.50813	P	1.0299999999996423E-4	P	0.40534	0.72	P	0.44673	0.457	T	0.09975	-1.0650	9	0.72032	D	0.01	-12.0893	11.1536	0.48473	0.1268:0.806:0.0:0.0672	rs7310898;rs52809397;rs57876510;rs7310898	1830	P50748	KNTC1_HUMAN	L	1830;255;17	ENSP00000328236:P1830L;ENSP00000443622:P255L;ENSP00000439119:P17L	ENSP00000328236:P1830L	P	+	2	0	KNTC1	121655908	0.836000	0.29430	0.093000	0.20910	0.968000	0.65278	3.480000	0.53172	1.372000	0.46190	0.650000	0.86243	CCT	C|0.962;T|0.038	0.038	strong		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123089955	C	T	123089955	3	4	22	1	0	0	0	0	1	0	0	0	8428	681	24	2	5687	2	KNTC1	12	123089955	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59167	123089955	10761940	7026	12134										
HIP1R	9026	hgsc.bcm.edu	37	chr12	123341199	123341199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagagcgaccagctggagAagctcaagagggagctggag	17	7	1	4	rs7972242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123341199A>C	ENST00000253083.4	+	17	1671	c.1546A>C	c.(1546-1548)Aag>Cag	p.K516Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	516			K -> Q (in dbSNP:rs7972242).		receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGCTGGAGAAGCTCAAGAG	0.662													A|||	203	0.0405351	0.146	0.013	5008	,	,		15928	0.0		0.001	False		,,,				2504	0.0				p.K516Q		Atlas-SNP	.											.	HIP1R	68	.	0			c.A1546C						PASS	.	A	GLN/LYS	542,3854		30,482,1686	29	33	32		1546	2.2	1	12	dbSNP_116	32	7,8587		0,7,4290	yes	missense	HIP1R	NM_003959.1	53	30,489,5976	CC,CA,AA		0.0815,12.3294,4.2263	benign	516/1069	123341199	549,12441	2198	4297	6495	SO:0001583	missense	9026	exon17			CTGGAGAAGCTCA	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1546A>C	12.37:g.123341199A>C	ENSP00000253083:p.Lys516Gln	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	88	42	0.477273	NM_003959	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	69	0.03159340659340659	64	0.13008130081300814	5	0.013812154696132596	0	0.0	0	0.0	A	9.125	1.009956	0.19277	0.123294	8.15E-4	ENSG00000130787	ENST00000253083	T	0.14766	2.48	4.77	2.24	0.28232	.	0.103731	0.64402	D	0.000003	T	0.00073	0.0002	N	0.20483	0.58	0.32676	P	0.516181	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.09377	0.001;0.004;0.004	T	0.38436	-0.9661	9	0.16420	T	0.52	-44.0738	5.6228	0.17467	0.5893:0.3098:0.101:0.0	rs7972242;rs7972242	516;516;504	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	Q	516	ENSP00000253083:K516Q	ENSP00000253083:K516Q	K	+	1	0	HIP1R	121907152	0.990000	0.36364	0.998000	0.56505	0.681000	0.39784	0.484000	0.22308	0.682000	0.31407	0.459000	0.35465	AAG	A|0.954;C|0.046	0.046	strong		0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		C	123341199	A	C	123341199	3	2	22	1	0	0	0	0	1	0	0	0	7115	247	9	5	1612	5	HIP1R	12	123341199	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	251244	123341199	10510696	7027	12135										
ARL6IP4	23457	hgsc.bcm.edu	37	chr12	123466304	123466304	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaggaggaagaagaagaAgaagaggaagaagctgaaga	16	2	0	9	rs74758272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123466304A>G	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000392435.2_Missense_Mutation_p.K220R|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.K108R|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.K97R|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.K239R|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.K231R|ARL6IP4_ENST00000357866.4_Missense_Mutation_p.K108R|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.K97R|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.K220R|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.K105R			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		aagaagaagaagaagaggaag	0.577													A|||	546	0.109026	0.3941	0.0346	5008	,	,		19865	0.0		0.001	False		,,,				2504	0.0				p.K239R	Ovarian(49;786 1333 9175 38236)	Atlas-SNP	.											.	ARL6IP4	14	.	0			c.A716G						PASS	.	A	ARG/LYS,ARG/LYS,ARG/LYS,ARG/LYS	1308,3046		202,904,1071	26	27	27		692,659,659,716	2.6	1	12	dbSNP_131	27	23,8529		0,23,4253	yes	missense,missense,missense,missense	ARL6IP4	NM_001002251.1,NM_001002252.1,NM_016638.2,NM_018694.2	26,26,26,26	202,927,5324	GG,GA,AA		0.2689,30.0413,10.313	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	231/353,220/339,220/342,239/361	123466304	1331,11575	2177	4276	6453	SO:0001631	upstream_gene_variant	51329	exon3			AGAAGAAGAAGAG	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466304A>G	Exception_encountered	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	75	36	0.48	NM_018694	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	193	0.08836996336996338	184	0.37398373983739835	9	0.024861878453038673	0	0.0	0	0.0	A	12.68	2.010868	0.35511	0.300413	0.002689	ENSG00000182196	ENST00000544323;ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000412505;ENST00000439686;ENST00000456762;ENST00000357866	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53857	1.22;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.69;0.6;0.6;0.69	4.96	2.59	0.31030	.	0.666484	0.15025	N	0.284816	T	0.00012	0.0000	L	0.56769	1.78	0.28457	P	0.9160855999999999	B;B;P;P;P;P	0.39326	0.026;0.021;0.617;0.668;0.467;0.617	B;B;B;B;B;B	0.40444	0.027;0.016;0.221;0.329;0.167;0.221	T	0.34850	-0.9812	9	0.27785	T	0.31	.	4.0754	0.09901	0.6128:0.0:0.2434:0.1437	.	105;231;220;220;239;231	B3V0L1;Q66PJ3-5;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;.;AR6P4_HUMAN;.	R	220;220;239;228;220;108;97;231;105;97;108;98;108	ENSP00000445309:K220R;ENSP00000442718:K220R;ENSP00000313422:K239R;ENSP00000442200:K228R;ENSP00000376230:K220R;ENSP00000441406:K108R;ENSP00000406036:K97R;ENSP00000414847:K231R;ENSP00000396723:K105R;ENSP00000413132:K97R;ENSP00000396365:K108R;ENSP00000391598:K98R;ENSP00000350532:K108R	ENSP00000313422:K239R	K	+	2	0	ARL6IP4	122032257	1.000000	0.71417	0.994000	0.49952	0.062000	0.15995	1.400000	0.34577	0.336000	0.23639	0.397000	0.26171	AAG	A|0.880;G|0.120	0.120	strong		0.577	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		G	123466304	A	G	123466304	1	3	22	0	1	0	0	0	0	0	0	0	943	72	3	3		3	ARL6IP4	12	123466304	5'Flank	SNP	A	TCGA-G8-6324-01A-11D-2210-10	125105	123466304	10385591	7028	12136										
CDK2AP1	8099	hgsc.bcm.edu	37	chr12	123749834	123749834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatggccagcagctccgcGtatttgctttggggcacctg	13	11	0	1	rs76783415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123749834G>A	ENST00000261692.2	-	3	710	c.189C>T	c.(187-189)taC>taT	p.Y63Y	CDK2AP1_ENST00000542174.1_Silent_p.Y35Y|CDK2AP1_ENST00000538446.1_Silent_p.Y35Y|CDK2AP1_ENST00000535979.1_Silent_p.Y35Y|CDK2AP1_ENST00000544658.1_Silent_p.Y35Y|RP11-282O18.7_ENST00000602352.1_RNA	NM_001270433.1|NM_001270434.1|NM_004642.3	NP_001257362.1|NP_001257363.1|NP_004633.1	O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	63					cell cycle (GO:0007049)|DNA-dependent DNA replication (GO:0006261)|positive regulation of protein phosphorylation (GO:0001934)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA polymerase binding (GO:0070182)			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		GCAGCTCCGCGTATTTGCTTT	0.582													G|||	152	0.0303514	0.1112	0.0072	5008	,	,		18220	0.0		0.0	False		,,,				2504	0.0				p.Y63Y		Atlas-SNP	.											.	CDK2AP1	8	.	0			c.C189T						PASS	.	G		443,3963	214.1+/-233.5	22,399,1782	137	129	132		189	-7.6	0.1	12	dbSNP_132	132	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	CDK2AP1	NM_004642.2		22,405,6076	AA,AG,GG		0.0698,10.0545,3.4523		63/116	123749834	449,12557	2203	4300	6503	SO:0001819	synonymous_variant	8099	exon3			CTCCGCGTATTTG	AB006077	CCDS9245.1, CCDS58289.1	12q24	2008-11-04	2008-11-04		ENSG00000111328	ENSG00000111328			14002	protein-coding gene	gene with protein product		602198	"CDK2-associated protein 1"			9331572, 9506968	Standard	NM_004642		Approved	DORC1, doc-1, DOC1, ST19, p12DOC-1	uc001ueq.4	O14519	OTTHUMG00000168854	ENST00000261692.2:c.189C>T	12.37:g.123749834G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	148	77	0.52027	NM_004642	F5GYA4	Silent	SNP	ENST00000261692.2	37	CCDS9245.1																																																																																			G|0.970;A|0.030	0.030	strong		0.582	CDK2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401387.1	NM_004642		A	123749834	G	A	123749834	2	1	22	1	0	0	0	0	0	0	0	1	3138	1140	40	1		1	CDK2AP1	12	123749834	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	283530	123749834	10102061	7029	12137										
SBNO1	55206	hgsc.bcm.edu	37	chr12	123799974	123799974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattctgttgcccttctatcAccatgtgtaagtgccccctg	8	13	3	0	rs6488868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123799974A>G	ENST00000602398.1	-	23	3193	c.3066T>C	c.(3064-3066)ggT>ggC	p.G1022G	SBNO1_ENST00000420886.2_Silent_p.G1022G|SBNO1_ENST00000602750.1_Silent_p.G1021G|SBNO1_ENST00000267176.4_Silent_p.G1021G			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1022					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCTTCTATCACCATGTGTAA	0.363													G|||	3431	0.685104	0.4523	0.6916	5008	,	,		19843	0.9544		0.7217	False		,,,				2504	0.68				p.G1022G		Atlas-SNP	.											.	SBNO1	138	.	0			c.T3066C						PASS	.	G	,	2141,2265	596.3+/-388.6	508,1125,570	142	134	137		3066,3063	-11.5	0.1	12	dbSNP_116	137	6423,2177	372.0+/-336.5	2408,1607,285	no	coding-synonymous,coding-synonymous	SBNO1	NM_001167856.1,NM_018183.3	,	2916,2732,855	GG,GA,AA		25.314,48.5928,34.1535	,	1022/1394,1021/1393	123799974	8564,4442	2203	4300	6503	SO:0001819	synonymous_variant	55206	exon22			TCTATCACCATGT	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3066T>C	12.37:g.123799974A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	94	37	0.393617	NM_001167856	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	CCDS53844.1																																																																																			A|0.316;G|0.684	0.684	strong		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		G	123799974	A	G	123799974	2	3	22	1	0	0	0	0	0	0	0	1	13862	146	6	2		2	SBNO1	12	123799974	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50140	123799974	10051921	7030	12138										
SBNO1	55206	hgsc.bcm.edu	37	chr12	123801856	123801856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttagctctcctatctgcTtgtaatgaaatacccgagct	6	10	2	1	rs61751328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:123801856T>C	ENST00000602398.1	-	21	2974	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q	SBNO1_ENST00000420886.2_Silent_p.Q949Q|SBNO1_ENST00000602750.1_Silent_p.Q948Q|SBNO1_ENST00000267176.4_Silent_p.Q948Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	949					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCCTATCTGCTTGTAATGAAA	0.388													T|||	489	0.0976438	0.3389	0.0447	5008	,	,		19983	0.0		0.008	False		,,,				2504	0.002				p.Q949Q		Atlas-SNP	.											.	SBNO1	138	.	0			c.A2847G						PASS	.	T	,	1176,3230	414.4+/-336.8	160,856,1187	108	101	103		2847,2844	5.7	1	12	dbSNP_129	103	122,8478	62.4+/-124.4	2,118,4180	no	coding-synonymous,coding-synonymous	SBNO1	NM_001167856.1,NM_018183.3	,	162,974,5367	CC,CT,TT		1.4186,26.6909,9.98	,	949/1394,948/1393	123801856	1298,11708	2203	4300	6503	SO:0001819	synonymous_variant	55206	exon20			ATCTGCTTGTAAT	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2847A>G	12.37:g.123801856T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	150	73	0.486667	NM_001167856	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	CCDS53844.1																																																																																			T|0.907;C|0.093	0.093	strong		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		C	123801856	T	C	123801856	2	2	22	1	0	0	0	0	0	0	0	1	13862	1606	56	3		3	SBNO1	12	123801856	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1882	123801856	10050039	7031	12139										
DDX55	57696	hgsc.bcm.edu	37	chr12	124090655	124090655	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacactcgcttttgtcatCcccatcctggaaattcttct	4	13	3	0	rs7973689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124090655C>T	ENST00000238146.4	+	3	245	c.195C>T	c.(193-195)atC>atT	p.I65I	DDX55_ENST00000538744.1_Silent_p.I65I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	65	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CTTTTGTCATCCCCATCCTGG	0.428													C|||	364	0.0726837	0.2315	0.0202	5008	,	,		20720	0.0		0.0159	False		,,,				2504	0.0286				p.I65I		Atlas-SNP	.											.	DDX55	51	.	0			c.C195T						PASS	.	C		764,3642	308.0+/-290.3	67,630,1506	81	76	77		195	1.6	1	12	dbSNP_116	77	163,8437	74.2+/-136.8	0,163,4137	no	coding-synonymous	DDX55	NM_020936.1		67,793,5643	TT,TC,CC		1.8953,17.34,7.1275		65/601	124090655	927,12079	2203	4300	6503	SO:0001819	synonymous_variant	57696	exon3			TGTCATCCCCATC	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.195C>T	12.37:g.124090655C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	105	56	0.533333	NM_020936	Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	CCDS9251.1																																																																																			C|0.929;T|0.071	0.071	strong		0.428	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			T	124090655	C	T	124090655	2	4	22	1	0	0	0	0	0	0	0	1	4373	845	30	2		2	DDX55	12	124090655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288799	124090655	9761240	7032	12140										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124265687	124265687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacaaccgtgggagtcacaTctggagaagtctctaattcc	10	10	3	1	rs11057353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124265687T>C	ENST00000409039.3	+	6	524	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	167	Stem. {ECO:0000250}.		S -> P (in dbSNP:rs11057353).		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGAGTCACATCTGGAGAAGT	0.428													t|||	3572	0.713259	0.5348	0.7032	5008	,	,		16112	0.9573		0.6769	False		,,,				2504	0.7474				p.S167P		Atlas-SNP	.											.	DNAH10	888	.	0			c.T499C						PASS	.		PRO/SER	2468,1938	614.5+/-392.4	674,1120,409	112	122	118		499	-10.6	0	12	dbSNP_120	118	5418,3182	652.9+/-401.0	1737,1944,619	yes	missense	DNAH10	NM_207437.3	74	2411,3064,1028	CC,CT,TT		37.0,43.9855,39.3664	benign	167/4472	124265687	7886,5120	2203	4300	6503	SO:0001583	missense	196385	exon6			GTCACATCTGGAG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.499T>C	12.37:g.124265687T>C	ENSP00000386770:p.Ser167Pro	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	152	74	0.486842	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	1556	0.7124542124542125	263	0.5345528455284553	248	0.6850828729281768	541	0.9458041958041958	504	0.6649076517150396	t	9.468	1.094813	0.20471	0.560145	0.63	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.3	-10.6	0.00265	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.25751	T	0.34	.	15.1095	0.72343	0.0:0.6112:0.2248:0.164	rs11057353;rs52789374;rs59091251;rs11057353	167	Q8IVF4	DYH10_HUMAN	P	167	ENSP00000386770:S167P	ENSP00000386770:S167P	S	+	1	0	DNAH10	122831640	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.199000	0.01238	-2.568000	0.00469	-0.696000	0.03686	TCT	T|0.310;C|0.690	0.690	strong		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124265687	T	C	124265687	3	2	22	1	0	0	0	0	1	0	0	0	4598	1435	50	2	521	2	DNAH10	12	124265687	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	175032	124265687	9586208	7033	12141										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124267703	124267703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtggagggagaggtgtcTgacctggcagctgacccgga	18	8	1	3	rs11057355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124267703T>C	ENST00000409039.3	+	7	733	c.708T>C	c.(706-708)tcT>tcC	p.S236S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	236	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGAGGTGTCTGACCTGGCAG	0.458													C|||	4013	0.801318	0.8321	0.7262	5008	,	,		18806	0.996		0.6451	False		,,,				2504	0.773				p.S236S		Atlas-SNP	.											.	DNAH10	888	.	0			c.T708C						PASS	.	C		3472,934	355.4+/-313.0	1352,768,83	109	105	106		708	-12	0	12	dbSNP_120	106	5200,3400	502.5+/-375.7	1594,2012,694	no	coding-synonymous	DNAH10	NM_207437.3		2946,2780,777	CC,CT,TT		39.5349,21.1984,33.3231		236/4472	124267703	8672,4334	2203	4300	6503	SO:0001819	synonymous_variant	196385	exon7			GGTGTCTGACCTG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.708T>C	12.37:g.124267703T>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			T|0.292;C|0.708	0.708	strong		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124267703	T	C	124267703	2	2	22	1	0	0	0	0	0	0	0	1	4598	1567	55	3		3	DNAH10	12	124267703	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2016	124267703	9584192	7034	12142										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124270467	124270467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtctgccgagtggtcaacCtgcggactttgttcaagtaa	12	9	3	0	rs116310078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124270467C>T	ENST00000409039.3	+	9	1247	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	408	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGGTCAACCTGCGGACTTT	0.438													C|||	28	0.00559105	0.0212	0.0	5008	,	,		19731	0.0		0.0	False		,,,				2504	0.0				p.L408L		Atlas-SNP	.											.	DNAH10	888	.	0			c.C1222T						PASS	.	C		76,4330	65.8+/-103.3	0,76,2127	86	77	80		1222	4.4	1	12	dbSNP_132	80	1,8599		0,1,4299	no	coding-synonymous	DNAH10	NM_207437.3		0,77,6426	TT,TC,CC		0.0116,1.7249,0.592		408/4472	124270467	77,12929	2203	4300	6503	SO:0001819	synonymous_variant	196385	exon9			GTCAACCTGCGGA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1222C>T	12.37:g.124270467C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	60	30	0.5	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			C|0.994;T|0.006	0.006	strong		0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124270467	C	T	124270467	2	4	22	1	0	0	0	0	0	0	0	1	4598	680	24	2		2	DNAH10	12	124270467	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2764	124270467	9581428	7035	12143										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124274474	124274474	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttccgtttgattggacagAttttggaggaattttataac	10	4	0	2	rs10846559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124274474A>G	ENST00000409039.3	+	11	1463	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	480	Stem. {ECO:0000250}.		I -> V (in dbSNP:rs10846559). {ECO:0000269|PubMed:14702039}.		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTGGACAGATTTTGGAGGA	0.443													G|||	4196	0.837859	0.8775	0.7738	5008	,	,		18865	0.998		0.7127	False		,,,				2504	0.7935				p.I480V		Atlas-SNP	.											.	DNAH10	888	.	0			c.A1438G						PASS	.	G	VAL/ILE	3743,663	281.1+/-275.7	1587,569,47	71	75	74		1438	5.2	1	12	dbSNP_120	74	5759,2841	447.5+/-361.5	1955,1849,496	yes	missense-near-splice	DNAH10	NM_207437.3	29	3542,2418,543	GG,GA,AA		33.0349,15.0477,26.9414	benign	480/4472	124274474	9502,3504	2203	4300	6503	SO:0001630	splice_region_variant	196385	exon11			GGACAGATTTTGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1438-1A>G	12.37:g.124274474A>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	1809	0.8282967032967034	421	0.8556910569105691	283	0.7817679558011049	571	0.9982517482517482	534	0.7044854881266491	G	0.183	-1.060517	0.01950	0.849523	0.669651	ENSG00000197653	ENST00000409039	T	0.55052	0.54	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.410436	0.20194	N	0.097259	T	0.00012	0.0000	N	0.00185	-1.9	0.50313	P	1.3900000000000023E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	8	.	.	.	.	12.3487	0.55136	0.079:0.0:0.921:0.0	rs10846559;rs58161138;rs10846559	480	Q8IVF4	DYH10_HUMAN	V	480	ENSP00000386770:I480V	.	I	+	1	0	DNAH10	122840427	1.000000	0.71417	0.973000	0.42090	0.431000	0.31685	3.354000	0.52254	1.222000	0.43521	-0.222000	0.12452	ATT	A|0.235;G|0.765	0.765	strong		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	G	124274474	A	G	124274474	5	3	22	1	0	0	0	0	0	0	1	0	4598	347	12	2	1480	2	DNAH10	12	124274474	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4007	124274474	9577421	7036	12144										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124281322	124281322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttctttcggattaagcaTaccatcctccgatttcaaga	6	11	2	1	rs76791219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124281322T>C	ENST00000409039.3	+	12	1777	c.1752T>C	c.(1750-1752)caT>caC	p.H584H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	584	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATTAAGCATACCATCCTCC	0.428													C|||	902	0.180112	0.4463	0.1196	5008	,	,		18752	0.0476		0.1093	False		,,,				2504	0.0726				p.H584H		Atlas-SNP	.											.	DNAH10	888	.	0			c.T1752C						PASS	.	C		1809,2597	639.6+/-397.1	382,1045,776	147	130	136		1752	2.5	1	12	dbSNP_131	136	934,7666	776.9+/-407.7	55,824,3421	no	coding-synonymous	DNAH10	NM_207437.3		437,1869,4197	CC,CT,TT		10.8605,41.0576,21.0903		584/4472	124281322	2743,10263	2203	4300	6503	SO:0001819	synonymous_variant	196385	exon12			TAAGCATACCATC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1752T>C	12.37:g.124281322T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	166	166	1	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			T|0.812;C|0.188	0.188	strong		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124281322	T	C	124281322	2	2	22	1	0	0	0	0	0	0	0	1	4598	1403	49	2		2	DNAH10	12	124281322	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6848	124281322	9570573	7037	12145										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124288212	124288212	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctttcttcaaaggtatCggtgactatataactggttg					rs80041527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124288212C>T	ENST00000409039.3	+	16	2290	c.2265C>T	c.(2263-2265)atC>atT	p.I755I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	755	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		tCAAAGGTATCGGTGACTATA	0.428													T|||	838	0.167332	0.4728	0.0807	5008	,	,		19257	0.0466		0.0408	False		,,,				2504	0.0706				p.I755I		Atlas-SNP	.											.	DNAH10	888	.	0			c.C2265T						PASS	.	T		1830,2572	612.2+/-391.9	400,1030,771	36	32	33		2265	0.7	0.1	12	dbSNP_131	33	379,8219	770.6+/-407.7	5,369,3925	no	coding-synonymous	DNAH10	NM_207437.3		405,1399,4696	TT,TC,CC		4.408,41.572,16.9923		755/4472	124288212	2209,10791	2201	4299	6500	SO:0001819	synonymous_variant	196385	exon16			AGGTATCGGTGAC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2265C>T	12.37:g.124288212C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	37	14	0.378378	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			C|0.827;T|0.173	0.173	strong		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124288212	C	T	124288212	2	4	22	1	0	0	0	0	0	0	0	1	4598	874	31	1		1	DNAH10	12	124288212	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6890	124288212	9563683	7038	12146	250	2								
DNAH10	196385	hgsc.bcm.edu	37	chr12	124288213	124288213	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctttcttcaaaggtatcGgtgactatataactggttgc					rs77726895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124288213G>A	ENST00000409039.3	+	16	2291	c.2266G>A	c.(2266-2268)Ggt>Agt	p.G756S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	756	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAAGGTATCGGTGACTATAT	0.428													G|||	78	0.0155751	0.053	0.0115	5008	,	,		19141	0.0		0.0	False		,,,				2504	0.0				p.G756S		Atlas-SNP	.											.	DNAH10	888	.	0			c.G2266A						PASS	.	G	SER/GLY	261,4143	140.4+/-175.9	8,245,1949	37	33	35		2266	2.9	0.1	12	dbSNP_131	35	14,8584	8.4+/-32.0	0,14,4285	yes	missense	DNAH10	NM_207437.3	56	8,259,6234	AA,AG,GG		0.1628,5.9264,2.1151	benign	756/4472	124288213	275,12727	2202	4299	6501	SO:0001583	missense	196385	exon16			GGTATCGGTGACT	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2266G>A	12.37:g.124288213G>A	ENSP00000386770:p.Gly756Ser	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	37	23	0.621622	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	20	0.009157509157509158	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	0	0.0	G	0.013	-1.611697	0.00835	0.059264	0.001628	ENSG00000197653	ENST00000409039	T	0.53640	0.61	4.78	2.86	0.33363	Dynein heavy chain, domain-1 (1);	0.636305	0.13044	N	0.418306	T	0.01765	0.0056	N	0.01505	-0.83	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.004	T	0.15925	-1.0420	10	0.08381	T	0.77	.	8.2499	0.31710	0.0747:0.0:0.6468:0.2785	.	756;631;756	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	S	756	ENSP00000386770:G756S	ENSP00000386770:G756S	G	+	1	0	DNAH10	122854166	0.000000	0.05858	0.130000	0.21974	0.029000	0.11900	0.209000	0.17435	0.475000	0.27415	0.650000	0.86243	GGT	G|0.980;A|0.020	0.020	strong		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124288213	G	A	124288213	3	1	22	1	0	0	0	0	1	0	0	0	4598	1116	39	1	2328	1	DNAH10	12	124288213	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	124288213	9563682	7039	12147	250	2								
DNAH10	196385	hgsc.bcm.edu	37	chr12	124288264	124288264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggaaatttgagtctctcGtccaccagattcataagaat	8	8	2	3	rs77491573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124288264G>A	ENST00000409039.3	+	16	2342	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	773	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGTCTCTCGTCCACCAGAT	0.398													G|||	563	0.11242	0.2958	0.0648	5008	,	,		18722	0.0446		0.0358	False		,,,				2504	0.047				p.V773I		Atlas-SNP	.											.	DNAH10	888	.	0			c.G2317A						PASS	.	G	ILE/VAL	1124,3282	400.8+/-331.7	147,830,1226	63	57	59		2317	4.1	0.7	12	dbSNP_131	59	340,8260	116.5+/-176.2	2,336,3962	yes	missense	DNAH10	NM_207437.3	29	149,1166,5188	AA,AG,GG		3.9535,25.5107,11.2563	benign	773/4472	124288264	1464,11542	2203	4300	6503	SO:0001583	missense	196385	exon16			TCTCTCGTCCACC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2317G>A	12.37:g.124288264G>A	ENSP00000386770:p.Val773Ile	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	65	26	0.4	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	234	0.10714285714285714	140	0.2845528455284553	34	0.09392265193370165	32	0.055944055944055944	28	0.036939313984168866	G	10.29	1.310301	0.23821	0.255107	0.039535	ENSG00000197653	ENST00000409039	T	0.26957	1.7	5.0	4.11	0.48088	.	0.117816	0.32106	N	0.006580	T	0.00012	0.0000	M	0.80028	2.48	0.34062	P	0.342557	P;P;B	0.49358	0.923;0.874;0.122	P;B;B	0.45449	0.481;0.288;0.028	T	0.36939	-0.9727	9	0.21540	T	0.41	.	11.1297	0.48339	0.1507:0.0:0.8493:0.0	.	773;648;773	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	I	773	ENSP00000386770:V773I	ENSP00000386770:V773I	V	+	1	0	DNAH10	122854217	1.000000	0.71417	0.689000	0.30133	0.134000	0.20937	4.785000	0.62418	1.236000	0.43740	0.655000	0.94253	GTC	G|0.882;A|0.118	0.118	strong		0.398	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124288264	G	A	124288264	3	1	22	1	0	0	0	0	1	0	0	0	4598	1145	40	1	2379	1	DNAH10	12	124288264	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	124288264	9563631	7040	12148										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124323011	124323011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctggtccagatcatgggTgagaccttaaaagaccccgt	11	10	2	3	rs116167096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124323011T>C	ENST00000409039.3	+	28	4582	c.4557T>C	c.(4555-4557)ggT>ggC	p.G1519G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1519	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATCATGGGTGAGACCTTAA	0.567													T|||	94	0.01877	0.0688	0.0043	5008	,	,		17334	0.0		0.0	False		,,,				2504	0.0				p.G1519G		Atlas-SNP	.											.	DNAH10	888	.	0			c.T4557C						PASS	.	T		189,3859		4,181,1839	33	34	34		4557	-10.4	0	12	dbSNP_132	34	1,8343		0,1,4171	no	coding-synonymous	DNAH10	NM_207437.3		4,182,6010	CC,CT,TT		0.012,4.669,1.5332		1519/4472	124323011	190,12202	2024	4172	6196	SO:0001819	synonymous_variant	196385	exon28			CATGGGTGAGACC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4557T>C	12.37:g.124323011T>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	72	35	0.486111	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			T|0.983;C|0.017	0.017	strong		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124323011	T	C	124323011	2	2	22	1	0	0	0	0	0	0	0	1	4598	1683	59	2		2	DNAH10	12	124323011	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34747	124323011	9528884	7041	12149										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124354954	124354954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actttcattttgataacaaaCggaatcaatgggtcccatgg	8	8	2	1	rs7977449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124354954C>T	ENST00000409039.3	+	43	7232	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2403			R -> W (in dbSNP:rs7977449).		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATAACAAACGGAATCAATG	0.393													C|||	118	0.0235623	0.0295	0.0086	5008	,	,		21920	0.0526		0.007	False		,,,				2504	0.0133				p.R2403W		Atlas-SNP	.											.	DNAH10	888	.	0			c.C7207T						PASS	.	C	TRP/ARG	109,3641		3,103,1769	91	88	89		7207	2.2	0	12	dbSNP_116	89	59,8163		0,59,4052	yes	missense	DNAH10	NM_207437.3	101	3,162,5821	TT,TC,CC		0.7176,2.9067,1.4033	probably-damaging	2403/4472	124354954	168,11804	1875	4111	5986	SO:0001583	missense	196385	exon43			AACAAACGGAATC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7207C>T	12.37:g.124354954C>T	ENSP00000386770:p.Arg2403Trp	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	63	0.028846153846153848	19	0.03861788617886179	3	0.008287292817679558	37	0.06468531468531469	4	0.005277044854881266	C	15.02	2.709681	0.48517	0.029067	0.007176	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.21	2.23	0.28157	.	1.696560	0.05959	U	0.640214	T	0.03434	0.0099	L	0.49778	1.585	0.09310	N	1	P	0.52316	0.952	P	0.44860	0.462	T	0.13255	-1.0516	10	0.66056	D	0.02	.	8.4827	0.33052	0.5085:0.4206:0.0:0.0709	rs7977449;rs7977449	2403	Q8IVF4	DYH10_HUMAN	W	2403	ENSP00000386770:R2403W	ENSP00000386770:R2403W	R	+	1	2	DNAH10	122920907	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	0.571000	0.29365	0.655000	0.94253	CGG	C|0.971;T|0.029	0.029	strong		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124354954	C	T	124354954	3	4	22	1	0	0	0	0	1	0	0	0	4598	527	19	1	7377	1	DNAH10	12	124354954	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31943	124354954	9496941	7042	12150										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124360032	124360032	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccatcctgaaaggccaCacctcggtaacttgatttta					rs11834289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124360032C>T	ENST00000409039.3	+	46	7864	c.7839C>T	c.(7837-7839)caC>caT	p.H2613H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2613	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAAGGCCACACCTCGGTAA	0.438													T|||	462	0.0922524	0.2806	0.0418	5008	,	,		17889	0.0506		0.0089	False		,,,				2504	0.002				p.H2613H		Atlas-SNP	.											.	DNAH10	888	.	0			c.C7839T						PASS	.	T		909,2825		110,689,1068	108	100	103		7839	-6.8	0.4	12	dbSNP_120	103	88,8104		1,86,4009	no	coding-synonymous	DNAH10	NM_207437.3		111,775,5077	TT,TC,CC		1.0742,24.3439,8.3599		2613/4472	124360032	997,10929	1867	4096	5963	SO:0001819	synonymous_variant	196385	exon46			AGGCCACACCTCG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7839C>T	12.37:g.124360032C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			C|0.924;T|0.076	0.076	strong		0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124360032	C	T	124360032	2	4	22	1	0	0	0	0	0	0	0	1	4598	477	17	2		2	DNAH10	12	124360032	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5078	124360032	9491863	7043	12151	251	2								
DNAH10	196385	hgsc.bcm.edu	37	chr12	124360037	124360037	+	Splice_Site	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctgaaaggccacacctCggtaacttgattttaactag					rs61732737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124360037C>T	ENST00000409039.3	+	46	7869	c.7844C>T	c.(7843-7845)tCg>tTg	p.S2615L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2615	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCACACCTCGGTAACTTGA	0.448													C|||	125	0.0249601	0.034	0.0086	5008	,	,		18069	0.0526		0.007	False		,,,				2504	0.0143				p.S2615L		Atlas-SNP	.											.	DNAH10	888	.	0			c.C7844T						PASS	.	C	LEU/SER	112,3600		3,106,1747	100	93	95		7844	3.3	1	12	dbSNP_129	95	57,8131		0,57,4037	yes	missense-near-splice	DNAH10	NM_207437.3	145	3,163,5784	TT,TC,CC		0.6961,3.0172,1.4202	benign	2615/4472	124360037	169,11731	1856	4094	5950	SO:0001630	splice_region_variant	196385	exon46			ACACCTCGGTAAC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7845+1C>T	12.37:g.124360037C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	49	0.475728	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	64	0.029304029304029304	20	0.04065040650406504	3	0.008287292817679558	37	0.06468531468531469	4	0.005277044854881266	C	12.26	1.884048	0.33255	0.030172	0.006961	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.41	3.3	0.37823	.	2.437090	0.02760	N	0.118428	T	0.05640	0.0148	L	0.41415	1.275	0.80722	D	1	B	0.22080	0.064	B	0.16289	0.015	T	0.03524	-1.1028	10	0.34782	T	0.22	.	10.3793	0.44101	0.1914:0.7324:0.0:0.0762	rs61732737	2615	Q8IVF4	DYH10_HUMAN	L	2615	ENSP00000386770:S2615L	ENSP00000386770:S2615L	S	+	2	0	DNAH10	122925990	0.862000	0.29867	0.998000	0.56505	0.927000	0.56198	0.469000	0.22067	1.425000	0.47237	0.558000	0.71614	TCG	C|0.976;T|0.024	0.024	strong		0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	T	124360037	C	T	124360037	5	4	22	1	0	0	0	0	0	0	1	0	4598	898	31	1	8026	1	DNAH10	12	124360037	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	124360037	9491858	7044	12152	251	2								
DNAH10	196385	hgsc.bcm.edu	37	chr12	124387574	124387574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggagaaggccgaggccgaGacgaccctggcagaggtcat	16	10	1	3	rs58411567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124387574G>A	ENST00000409039.3	+	56	9400	c.9375G>A	c.(9373-9375)gaG>gaA	p.E3125E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3125	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGAGGCCGAGACGACCCTGG	0.567													G|||	1681	0.335663	0.5318	0.2925	5008	,	,		19920	0.2788		0.2495	False		,,,				2504	0.2485				p.E3125E		Atlas-SNP	.											.	DNAH10	888	.	0			c.G9375A						PASS	.	G		1934,2272		429,1076,598	58	69	65		9375	3.1	0.8	12	dbSNP_129	65	1868,6574		218,1432,2571	no	coding-synonymous	DNAH10	NM_207437.3		647,2508,3169	AA,AG,GG		22.1275,45.9819,30.0601		3125/4472	124387574	3802,8846	2103	4221	6324	SO:0001819	synonymous_variant	196385	exon56			GGCCGAGACGACC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9375G>A	12.37:g.124387574G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	79	45	0.56962	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			G|0.697;A|0.303	0.303	strong		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124387574	G	A	124387574	2	1	22	1	0	0	0	0	0	0	0	1	4598	933	33	2		2	DNAH10	12	124387574	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27537	124387574	9464321	7045	12153										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124387586	124387586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggccgagacgaccctggcAgaggtcatgcccatcctgga	14	13	1	2	rs61587964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124387586A>G	ENST00000409039.3	+	56	9412	c.9387A>G	c.(9385-9387)gcA>gcG	p.A3129A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3129	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGACCCTGGCAGAGGTCATGC	0.562													G|||	1793	0.358027	0.6135	0.2968	5008	,	,		20262	0.2788		0.2515	False		,,,				2504	0.2474				p.A3129A		Atlas-SNP	.											.	DNAH10	888	.	0			c.A9387G						PASS	.	G		2197,2005		544,1109,448	51	62	59		9387	-4.4	0.3	12	dbSNP_129	59	1880,6568		222,1436,2566	no	coding-synonymous	DNAH10	NM_207437.3		766,2545,3014	GG,GA,AA		22.2538,47.7154,32.2292		3129/4472	124387586	4077,8573	2101	4224	6325	SO:0001819	synonymous_variant	196385	exon56			CCTGGCAGAGGTC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9387A>G	12.37:g.124387586A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			A|0.680;G|0.320	0.320	strong		0.562	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			G	124387586	A	G	124387586	2	3	22	1	0	0	0	0	0	0	0	1	4598	175	7	3		3	DNAH10	12	124387586	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12	124387586	9464309	7046	12154										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124401117	124401117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgatcctgtgattgacaaCgtcttagaaaaaaatataaa	6	6	1	3	rs61749063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124401117C>T	ENST00000409039.3	+	62	10507	c.10482C>T	c.(10480-10482)aaC>aaT	p.N3494N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3494	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATTGACAACGTCTTAGAAA	0.428													c|||	327	0.0652955	0.2322	0.0231	5008	,	,		21228	0.0		0.003	False		,,,				2504	0.001				p.N3494N		Atlas-SNP	.											.	DNAH10	888	.	0			c.C10482T						PASS	.	T		695,3101		58,579,1261	95	95	95		10482	-6.3	0	12	dbSNP_129	95	41,8179		1,39,4070	no	coding-synonymous	DNAH10	NM_207437.3		59,618,5331	TT,TC,CC		0.4988,18.3087,6.1252		3494/4472	124401117	736,11280	1898	4110	6008	SO:0001819	synonymous_variant	196385	exon62			TGACAACGTCTTA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10482C>T	12.37:g.124401117C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	75	39	0.52	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			C|0.957;T|0.043	0.043	strong		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124401117	C	T	124401117	2	4	22	1	0	0	0	0	0	0	0	1	4598	535	19	1		1	DNAH10	12	124401117	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13531	124401117	9450778	7047	12155										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124401172	124401172	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagtttattatcctgggaGacaaggaagtggactatgat	13	5	0	2	rs61740383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124401172G>A	ENST00000409039.3	+	62	10562	c.10537G>A	c.(10537-10539)Gac>Aac	p.D3513N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3513	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATCCTGGGAGACAAGGAAGT	0.433													G|||	327	0.0652955	0.2322	0.0231	5008	,	,		21713	0.0		0.003	False		,,,				2504	0.001				p.D3513N		Atlas-SNP	.											.	DNAH10	888	.	0			c.G10537A						PASS	.	G	ASN/ASP	688,3042		58,572,1235	71	72	72		10537	4.7	1	12	dbSNP_129	72	38,8150		1,36,4057	yes	missense	DNAH10	NM_207437.3	23	59,608,5292	AA,AG,GG		0.4641,18.445,6.0916	probably-damaging	3513/4472	124401172	726,11192	1865	4094	5959	SO:0001583	missense	196385	exon62			CTGGGAGACAAGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10537G>A	12.37:g.124401172G>A	ENSP00000386770:p.Asp3513Asn	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	113	0.051739926739926737	100	0.2032520325203252	11	0.03038674033149171	0	0.0	2	0.002638522427440633	G	32	5.137071	0.94517	0.18445	0.004641	ENSG00000197653	ENST00000409039	T	0.33654	1.4	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.00144	0.0004	M	0.90425	3.115	0.09310	P	0.999999878792	D	0.89917	1.0	D	0.87578	0.998	T	0.02471	-1.1154	9	0.87932	D	0	.	17.7267	0.88367	0.0:0.0:1.0:0.0	rs61740383	3513	Q8IVF4	DYH10_HUMAN	N	3513	ENSP00000386770:D3513N	ENSP00000386770:D3513N	D	+	1	0	DNAH10	122967125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.177000	0.69029	0.561000	0.74099	GAC	G|0.957;A|0.043	0.043	strong		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124401172	G	A	124401172	3	1	22	1	0	0	0	0	1	0	0	0	4598	942	33	2	10783	2	DNAH10	12	124401172	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55	124401172	9450723	7048	12156										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124409630	124409630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcactggagcagtttcccGtccccttgggttacgataac	9	12	1	0	rs74845458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124409630G>T	ENST00000409039.3	+	67	11471	c.11446G>T	c.(11446-11448)Gtc>Ttc	p.V3816F	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3816					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGTTTCCCGTCCCCTTGGG	0.473													T|||	327	0.0652955	0.2322	0.0231	5008	,	,		20433	0.0		0.003	False		,,,				2504	0.001				p.V3816F		Atlas-SNP	.											DNAH10_same_name,NS,carcinoma,0,2	DNAH10	888	2	0			c.G11446T						PASS	.	T	PHE/VAL	709,3179		59,591,1294	174	167	170		11446	1.5	0.3	12	dbSNP_131	170	39,8265		1,37,4114	yes	missense	DNAH10	NM_207437.3	50	60,628,5408	TT,TG,GG		0.4697,18.2356,6.1352	benign	3816/4472	124409630	748,11444	1944	4152	6096	SO:0001583	missense	196385	exon67			TTTCCCGTCCCCT	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11446G>T	12.37:g.124409630G>T	ENSP00000386770:p.Val3816Phe	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	282	136	0.482269	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	113	0.051739926739926737	100	0.2032520325203252	11	0.03038674033149171	0	0.0	2	0.002638522427440633	T	0.013	-1.642308	0.00799	0.182356	0.004697	ENSG00000197653	ENST00000409039	T	0.09538	2.97	5.45	1.5	0.22942	Dynein heavy chain (1);	0.344630	0.30085	N	0.010460	T	0.00012	0.0000	N	0.00277	-1.72	0.19945	P	0.9999460444	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	9	0.12430	T	0.62	.	2.5158	0.04667	0.11:0.1927:0.1142:0.5831	.	3816	Q8IVF4	DYH10_HUMAN	F	3816	ENSP00000386770:V3816F	ENSP00000386770:V3816F	V	+	1	0	DNAH10	122975583	0.935000	0.31712	0.251000	0.24312	0.009000	0.06853	1.289000	0.33307	0.040000	0.15660	-1.401000	0.01141	GTC	G|0.958;T|0.042	0.042	strong		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124409630	G	T	124409630	3	4	22	1	0	0	0	0	1	0	0	0	4598	1145	40	4	11712	4	DNAH10	12	124409630	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8458	124409630	9442265	7049	12157										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124417889	124417889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctccaggtgaccgagagCgagcccagcgtgatgtggct	14	12	1	3	rs4930721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124417889C>T	ENST00000409039.3	+	76	12979	c.12954C>T	c.(12952-12954)agC>agT	p.S4318S	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4318					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGACCGAGAGCGAGCCCAGCG	0.607													C|||	1305	0.260583	0.3109	0.3228	5008	,	,		16949	0.123		0.3479	False		,,,				2504	0.2004				p.S4318S		Atlas-SNP	.											.	DNAH10	888	.	0			c.C12954T						PASS	.	C		1200,2700		172,856,922	16	18	17		12954	-9.1	0	12	dbSNP_111	17	2550,5748		381,1788,1980	no	coding-synonymous	DNAH10	NM_207437.3		553,2644,2902	TT,TC,CC		30.7303,30.7692,30.7427		4318/4472	124417889	3750,8448	1950	4149	6099	SO:0001819	synonymous_variant	196385	exon76			CGAGAGCGAGCCC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12954C>T	12.37:g.124417889C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			C|0.719;T|0.281	0.281	strong		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124417889	C	T	124417889	2	4	22	1	0	0	0	0	0	0	0	1	4598	767	27	1		1	DNAH10	12	124417889	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8259	124417889	9434006	7050	12158										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124417989	124417989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacggctggccactggacCgctccaccttgttcacacaa	9	15	1	1	rs61746561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124417989C>T	ENST00000409039.3	+	76	13079	c.13054C>T	c.(13054-13056)Cgc>Tgc	p.R4352C	DNAH10OS_ENST00000514254.2_Intron|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4352					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCACTGGACCGCTCCACCTT	0.617													C|||	70	0.0139776	0.0507	0.0014	5008	,	,		18672	0.0		0.001	False		,,,				2504	0.001				p.R4352C		Atlas-SNP	.											.	DNAH10	888	.	0			c.C13054T						PASS	.	C	CYS/ARG	149,3855		4,141,1857	40	43	42		13054	5.2	1	12	dbSNP_129	42	7,8303		0,7,4148	yes	missense	DNAH10	NM_207437.3	180	4,148,6005	TT,TC,CC		0.0842,3.7213,1.2669	probably-damaging	4352/4472	124417989	156,12158	2002	4155	6157	SO:0001583	missense	196385	exon76			CTGGACCGCTCCA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13054C>T	12.37:g.124417989C>T	ENSP00000386770:p.Arg4352Cys	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	105	43	0.409524	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	C	34	5.328033	0.95733	0.037213	8.42E-4	ENSG00000197653	ENST00000409039	T	0.09255	3.0	5.18	5.18	0.71444	Dynein heavy chain (1);	0.139800	0.49305	D	0.000149	T	0.11410	0.0278	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.02942	-1.1091	10	0.66056	D	0.02	.	18.3051	0.90177	0.0:1.0:0.0:0.0	rs61746561	4352	Q8IVF4	DYH10_HUMAN	C	4352	ENSP00000386770:R4352C	ENSP00000386770:R4352C	R	+	1	0	DNAH10	122983942	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.889000	0.69766	2.413000	0.81919	0.561000	0.74099	CGC	C|0.991;T|0.009	0.009	strong		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124417989	C	T	124417989	3	4	22	1	0	0	0	0	1	0	0	0	4598	652	23	1	13356	1	DNAH10	12	124417989	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100	124417989	9433906	7051	12159										
CCDC92	80212	hgsc.bcm.edu	37	chr12	124421764	124421764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgcggcttttcgcgggcCgggctgtgctgctcgccgct	16	13	0	0	rs34241686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124421764C>T	ENST00000238156.3	-	5	1191	c.837G>A	c.(835-837)ccG>ccA	p.P279P	CCDC92_ENST00000545135.1_Silent_p.P262P|CCDC92_ENST00000545891.1_Silent_p.P262P|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'Flank	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	279						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTTCGCGGGCCGGGCTGTGCT	0.701													C|||	27	0.00539137	0.0197	0.0	5008	,	,		12393	0.0		0.001	False		,,,				2504	0.0				p.P279P		Atlas-SNP	.											.	CCDC92	18	.	0			c.G837A						PASS	.	C		54,4342		0,54,2144	18	21	20		837	-9.9	0.1	12	dbSNP_126	20	4,8578		0,4,4287	no	coding-synonymous	CCDC92	NM_025140.1		0,58,6431	TT,TC,CC		0.0466,1.2284,0.4469		279/332	124421764	58,12920	2198	4291	6489	SO:0001819	synonymous_variant	80212	exon5			GCGGGCCGGGCTG	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.837G>A	12.37:g.124421764C>T		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	22	10	0.454545	NM_025140	B3KNQ0|Q9H697	Silent	SNP	ENST00000238156.3	37	CCDS9256.1																																																																																			C|0.996;T|0.004	0.004	strong		0.701	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		T	124421764	C	T	124421764	2	4	22	1	0	0	0	0	0	0	0	1	2871	639	23	1		1	CCDC92	12	124421764	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3775	124421764	9430131	7052	12160										
FAM101A	144347	hgsc.bcm.edu	37	chr12	124798797	124798797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacaaggtcttctatgCgcccgtacccaccgtcacgg	10	16	3	0	rs116090335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124798797C>T	ENST00000389727.3	+	3	377	c.377C>T	c.(376-378)gCg>gTg	p.A126V	FAM101A_ENST00000324038.3_Missense_Mutation_p.A45V|FAM101A_ENST00000546355.1_Missense_Mutation_p.A45V|FAM101A_ENST00000338359.4_Missense_Mutation_p.A45V			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	126										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GTCTTCTATGCGCCCGTACCC	0.622													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18557	0.0		0.0	False		,,,				2504	0.0				p.A45V		Atlas-SNP	.											.	FAM101A	10	.	0			c.C134T						PASS	.	C	VAL/ALA,VAL/ALA	31,4375	37.6+/-69.7	0,31,2172	84	72	76		134,134	0	0.1	12	dbSNP_132	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	FAM101A,ZNF664-FAM101A	NM_001204299.1,NM_181709.4	64,64	0,32,6471	TT,TC,CC		0.0116,0.7036,0.246	benign,benign	45/136,45/136	124798797	32,12974	2203	4300	6503	SO:0001583	missense	144347	exon3			TCTATGCGCCCGT		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.377C>T	12.37:g.124798797C>T	ENSP00000374377:p.Ala126Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	144	80	0.555556	NM_181709	A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	2.675	-0.276668	0.05679	0.007036	1.16E-4	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	0.0271	0.14153	.	0.566604	0.18703	N	0.133527	T	0.13243	0.0321	N	0.10874	0.06	0.28756	N	0.901148	B	0.13145	0.007	B	0.08055	0.003	T	0.10683	-1.0619	9	0.29301	T	0.29	-0.5442	5.5434	0.17051	0.0:0.3925:0.1872:0.4203	.	126	Q6ZTI6	F101A_HUMAN	V	45;45;126;45;45	.	ENSP00000315626:A45V	A	+	2	0	FAM101A	123364750	0.126000	0.22350	0.078000	0.20375	0.034000	0.12701	0.293000	0.19029	0.085000	0.17107	-1.175000	0.01729	GCG	C|0.998;T|0.002	0.002	strong		0.622	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		T	124798797	C	T	124798797	3	4	22	1	0	0	0	0	1	0	0	0	5380	768	27	1	140	1	FAM101A	12	124798797	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	377033	124798797	9053098	7053	12161										
NCOR2	9612	hgsc.bcm.edu	37	chr12	124821705	124821705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtggcagccgggcgaacGggtgaggaggtggaggtgga	22	5	0	1	rs3741512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124821705G>A	ENST00000405201.1	-	38	5709	c.5709C>T	c.(5707-5709)ccC>ccT	p.P1903P	NCOR2_ENST00000429285.2_Silent_p.P1893P|NCOR2_ENST00000356219.3_Silent_p.P1910P|NCOR2_ENST00000397355.1_Silent_p.P1894P|NCOR2_ENST00000404621.1_Silent_p.P1893P|NCOR2_ENST00000404121.2_Silent_p.P1464P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1914					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGGGCGAACGGGTGAGGAGG	0.667													g|||	120	0.0239617	0.0862	0.0086	5008	,	,		14245	0.0		0.0	False		,,,				2504	0.0				p.P1903P		Atlas-SNP	.											.	NCOR2	475	.	0			c.C5709T						PASS	.		,,	227,3647		6,215,1716	12	17	15		5679,5679,5709	-6.6	0.7	12	dbSNP_107	15	2,7984		0,2,3991	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	6,217,5707	AA,AG,GG		0.025,5.8596,1.9309	,,	1893/2459,1893/2505,1903/2515	124821705	229,11631	1937	3993	5930	SO:0001819	synonymous_variant	9612	exon40			GCGAACGGGTGAG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5709C>T	12.37:g.124821705G>A		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	269	131	0.486989	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2	70	0.03205128205128205	67	0.13617886178861788	3	0.008287292817679558	0	0.0	0	0.0	g	6.208	0.406498	0.11754	0.058596	2.5E-4	ENSG00000196498	ENST00000440187	.	.	.	4.36	-6.64	0.01801	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.99999815647	.	.	.	.	.	.	T	0.31613	-0.9937	3	.	.	.	-11.6142	1.0444	0.01566	0.3119:0.1788:0.3193:0.1901	rs3741512	.	.	.	C	138	.	.	R	-	1	0	NCOR2	123387658	0.000000	0.05858	0.747000	0.31113	0.653000	0.38743	-2.100000	0.01345	-0.547000	0.06207	-2.034000	0.00421	CGT	G|0.966;A|0.034	0.034	strong		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124821705	G	A	124821705	2	1	22	1	0	0	0	0	0	0	0	1	10236	1103	39	1		1	NCOR2	12	124821705	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22908	124821705	9030190	7054	12162										
NCOR2	9612	hgsc.bcm.edu	37	chr12	124841276	124841276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacggggaagggcaggccGgaagtccagcaaggggggtc	21	9	0	0	rs200441401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124841276G>A	ENST00000405201.1	-	23	3153	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	NCOR2_ENST00000429285.2_Silent_p.S1041S|NCOR2_ENST00000356219.3_Silent_p.S1058S|NCOR2_ENST00000397355.1_Silent_p.S1042S|NCOR2_ENST00000404621.1_Silent_p.S1041S|NCOR2_ENST00000404121.2_Silent_p.S612S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1059					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGGCAGGCCGGAAGTCCAGC	0.677													G|||	5	0.000998403	0.003	0.0	5008	,	,		14484	0.0		0.0	False		,,,				2504	0.001				p.S1051S		Atlas-SNP	.											.	NCOR2	475	.	0			c.C3153T						PASS	.	G	,,	10,3816		0,10,1903	12	17	15		3123,3123,3153	-4.4	0.3	12		15	1,8229		0,1,4114	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,11,6017	AA,AG,GG		0.0122,0.2614,0.0912	,,	1041/2459,1041/2505,1051/2515	124841276	11,12045	1913	4115	6028	SO:0001819	synonymous_variant	9612	exon25			CAGGCCGGAAGTC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3153C>T	12.37:g.124841276G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	192	94	0.489583	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																			G|1.000;A|0.000	0.000	strong		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124841276	G	A	124841276	2	1	22	1	0	0	0	0	0	0	0	1	10236	1103	39	1		1	NCOR2	12	124841276	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19571	124841276	9010619	7055	12163										
NCOR2	9612	hgsc.bcm.edu	37	chr12	124846788	124846788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcggtggggctgggggaGctggcttggtgggagctgcg	25	6	0	0	rs11057592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124846788G>C	ENST00000405201.1	-	22	2984	c.2984C>G	c.(2983-2985)gCt>gGt	p.A995G	NCOR2_ENST00000429285.2_Missense_Mutation_p.A977G|NCOR2_ENST00000356219.3_Missense_Mutation_p.A994G|NCOR2_ENST00000397355.1_Missense_Mutation_p.A978G|NCOR2_ENST00000404621.1_Missense_Mutation_p.A977G|NCOR2_ENST00000404121.2_Missense_Mutation_p.A548G			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	995	Poly-Pro.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCTGGGGGAGCTGGCTTGGT	0.682													G|||	117	0.0233626	0.0877	0.0014	5008	,	,		12732	0.0		0.0	False		,,,				2504	0.0				p.A995G		Atlas-SNP	.											.	NCOR2	475	.	0			c.C2984G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA	304,3804		12,280,1762	9	13	12		2930,2930,2984	3	0	12	dbSNP_120	12	4,8366		0,4,4181	yes	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	60,60,60	12,284,5943	CC,CG,GG		0.0478,7.4002,2.4683	possibly-damaging,possibly-damaging,possibly-damaging	977/2459,977/2505,995/2515	124846788	308,12170	2054	4185	6239	SO:0001583	missense	9612	exon24			GGGGGAGCTGGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2984C>G	12.37:g.124846788G>C	ENSP00000384018:p.Ala995Gly	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	47	0.02152014652014652	46	0.09349593495934959	1	0.0027624309392265192	0	0.0	0	0.0	G	8.697	0.908871	0.17833	0.074002	4.78E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31510	2.18;2.49;2.22;2.49;2.22;2.48;1.49	4.91	3.02	0.34903	.	0.502628	0.16789	U	0.199466	T	0.00998	0.0033	L	0.44542	1.39	0.09310	N	1	P;P;P	0.51933	0.824;0.824;0.949	B;B;P	0.45881	0.3;0.3;0.496	T	0.02179	-1.1200	10	0.27082	T	0.32	-2.9071	8.1686	0.31241	0.0881:0.1576:0.7543:0.0	rs11057592	977;978;995	C9J0Q5;C9J239;C9JFD3	.;.;.	G	995;977;994;978;994;548;977;995	ENSP00000384018:A995G;ENSP00000384202:A977G;ENSP00000348551:A994G;ENSP00000380513:A978G;ENSP00000385618:A548G;ENSP00000400281:A977G;ENSP00000402808:A995G	ENSP00000348551:A994G	A	-	2	0	NCOR2	123412741	0.024000	0.19004	0.009000	0.14445	0.009000	0.06853	0.963000	0.29293	0.454000	0.26884	0.462000	0.41574	GCT	G|0.973;C|0.027	0.027	strong		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		C	124846788	G	C	124846788	3	2	22	1	0	0	0	0	1	0	0	0	10236	971	34	4	4688	4	NCOR2	12	124846788	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5512	124846788	9005107	7056	12164										
NCOR2	9612	hgsc.bcm.edu	37	chr12	124856660	124856660	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcgcccgagctcttggcTgtggtggccctgccgctccc	16	16	1	0	rs3741513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:124856660T>A	ENST00000405201.1	-	20	2715	c.2715A>T	c.(2713-2715)acA>acT	p.T905T	NCOR2_ENST00000397355.1_Silent_p.T888T|NCOR2_ENST00000429285.2_Silent_p.T887T|NCOR2_ENST00000404621.1_Silent_p.T887T|NCOR2_ENST00000356219.3_Silent_p.T905T|NCOR2_ENST00000404121.2_Silent_p.T458T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	905					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCTCTTGGCTGTGGTGGCCC	0.711													T|||	1929	0.385184	0.2549	0.5893	5008	,	,		11859	0.1677		0.5805	False		,,,				2504	0.4397				p.T905T		Atlas-SNP	.											.	NCOR2	475	.	0			c.A2715T						PASS	.	T	,,	1515,2681		291,933,874	27	37	34		2661,2661,2715	-5.4	0	12	dbSNP_107	34	5130,3294		1586,1958,668	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	1877,2891,1542	AA,AT,TT		39.1026,36.1058,47.3455	,,	887/2459,887/2505,905/2515	124856660	6645,5975	2098	4212	6310	SO:0001819	synonymous_variant	9612	exon22			CTTGGCTGTGGTG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2715A>T	12.37:g.124856660T>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	38	20	0.526316	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																			T|0.535;A|0.465	0.465	strong		0.711	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124856660	T	A	124856660	2	1	22	1	0	0	0	0	0	0	0	1	10236	1567	55	5		5	NCOR2	12	124856660	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9872	124856660	8995235	7057	12165										
SCARB1	949	hgsc.bcm.edu	37	chr12	125263039	125263039	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggggctggggggctgtcCgctgggagagtccgggagaa	22	7	0	2	rs701103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125263039C>T	ENST00000415380.2	-	0	1870				SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000339570.5_Missense_Mutation_p.G499R			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GGGGGCTGTCCGCTGGGAGAG	0.692													C|||	305	0.0609026	0.2224	0.0144	5008	,	,		12888	0.0		0.001	False		,,,				2504	0.0				p.G499R		Atlas-SNP	.											.	SCARB1	40	.	0			c.G1495A						PASS	.	C	ARG/GLY,	644,3422		39,566,1428	7	11	10		1495,	1.5	0	12	dbSNP_86	10	16,8256		0,16,4120	yes	missense,utr-3	SCARB1	NM_001082959.1,NM_005505.4	125,	39,582,5548	TT,TC,CC		0.1934,15.8387,5.3493	,	499/507,	125263039	660,11678	2033	4136	6169	SO:0001624	3_prime_UTR_variant	949	exon12			GCTGTCCGCTGGG	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.*86G>A	12.37:g.125263039C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	51	29	0.568627	NM_001082959	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		100	0.045787545787545784	92	0.18699186991869918	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	12.90	2.077750	0.36662	0.158387	0.001934	ENSG00000073060	ENST00000339570	T	0.61158	0.13	4.36	1.45	0.22620	.	.	.	.	.	T	0.00073	0.0002	L	0.36672	1.1	0.53688	P	2.4000000000024002E-5	B	0.33135	0.399	B	0.24006	0.05	T	0.03773	-1.1005	8	0.44086	T	0.13	.	4.3702	0.11244	0.0:0.5966:0.1882:0.2152	rs701103;rs747156;rs60594950	499	F8W8N0	.	R	499	ENSP00000343795:G499R	ENSP00000343795:G499R	G	-	1	0	SCARB1	123828992	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.608000	0.05641	-0.010000	0.14271	0.455000	0.32223	GGA	C|0.956;T|0.044	0.044	strong		0.692	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		T	125263039	C	T	125263039	1	4	22	0	1	0	0	0	0	0	0	0	13881	661	23	1		1	SCARB1	12	125263039	3'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	406379	125263039	8588856	7058	12166										
UBC	7316	hgsc.bcm.edu	37	chr12	125396377	125396377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaagatcaacctctgctgAtcaggagggatgccttcctt	10	11	3	2	rs16918544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125396377A>G	ENST00000538617.1	-	4	1117	c.801T>C	c.(799-801)gaT>gaC	p.D267D	UBC_ENST00000546120.1_Silent_p.D571D|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.D647D|UBC_ENST00000536769.1_Silent_p.D647D			P0CG48	UBC_HUMAN	ubiquitin C	647	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.D647D(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCTCTGCTGATCAGGAGGGA	0.527													G|||	133	0.0265575	0.0802	0.0072	5008	,	,		21561	0.0179		0.002	False		,,,				2504	0.002				p.D647D		Atlas-SNP	.											UBC,NS,carcinoma,0,1	UBC	79	1	1	Substitution - coding silent(1)	prostate(1)	c.T1941C						PASS	.	G		321,4085	792.1+/-415.1	17,287,1899	190	177	182		1941	3.4	1	12	dbSNP_123	182	27,8573	818.0+/-406.9	0,27,4273	no	coding-synonymous	UBC	NM_021009.5		17,314,6172	GG,GA,AA		0.314,7.2855,2.6757		647/686	125396377	348,12658	2203	4300	6503	SO:0001819	synonymous_variant	7316	exon2			CTGCTGATCAGGA		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.801T>C	12.37:g.125396377A>G		Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	341	172	0.504399	NM_021009	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																				A|0.976;G|0.024	0.024	strong		0.527	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		G	125396377	A	G	125396377	2	3	22	1	0	0	0	0	0	0	0	1	16839	330	12	2		2	UBC	12	125396377	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	133338	125396377	8455518	7059	12167										
DHX37	57647	hgsc.bcm.edu	37	chr12	125441347	125441347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatcttagcgtagcggggTgccacggggaatgtggccat	16	9	1	0	rs12300199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125441347T>C	ENST00000308736.2	-	18	2441	c.2343A>G	c.(2341-2343)gcA>gcG	p.A781A	DHX37_ENST00000544745.1_Silent_p.A568A	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	781							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CGTAGCGGGGTGCCACGGGGA	0.637													T|||	302	0.0603035	0.1044	0.0331	5008	,	,		19415	0.0536		0.0308	False		,,,				2504	0.0573				p.A781A		Atlas-SNP	.											.	DHX37	114	.	0			c.A2343G						PASS	.	T		391,4015	196.7+/-221.0	14,363,1826	96	92	94		2343	-10.5	0.7	12	dbSNP_120	94	330,8270	114.4+/-174.4	12,306,3982	no	coding-synonymous	DHX37	NM_032656.3		26,669,5808	CC,CT,TT		3.8372,8.8743,5.5436		781/1158	125441347	721,12285	2203	4300	6503	SO:0001819	synonymous_variant	57647	exon18			GCGGGGTGCCACG	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2343A>G	12.37:g.125441347T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	109	43	0.394495	NM_032656	Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	CCDS9261.1																																																																																			T|0.943;C|0.057	0.057	strong		0.637	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		C	125441347	T	C	125441347	2	2	22	1	0	0	0	0	0	0	0	1	4510	1683	59	2		2	DHX37	12	125441347	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44970	125441347	8410548	7060	12168										
AACS	65985	hgsc.bcm.edu	37	chr12	125587278	125587278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctcatcttctctgtggaGgctgttgtctataatggcaa	10	8	4	0	rs3763984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125587278G>A	ENST00000316519.6	+	6	830	c.624G>A	c.(622-624)gaG>gaA	p.E208E	AACS_ENST00000261686.6_Silent_p.E208E|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	208					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCTCTGTGGAGGCTGTTGTCT	0.502													g|||	280	0.0559105	0.0923	0.0245	5008	,	,		19948	0.1131		0.006	False		,,,				2504	0.0215				p.E208E		Atlas-SNP	.											.	AACS	59	.	0			c.G624A						PASS	.	G		326,4080	173.4+/-203.2	9,308,1886	169	181	177		624	1	1	12	dbSNP_107	177	55,8545	34.8+/-89.0	0,55,4245	no	coding-synonymous	AACS	NM_023928.3		9,363,6131	AA,AG,GG		0.6395,7.399,2.9294		208/673	125587278	381,12625	2203	4300	6503	SO:0001819	synonymous_variant	65985	exon6			TGTGGAGGCTGTT	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.624G>A	12.37:g.125587278G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	CCDS9263.1																																																																																			G|0.956;A|0.044	0.044	strong		0.502	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		A	125587278	G	A	125587278	2	1	22	1	0	0	0	0	0	0	0	1	9	991	35	2		2	AACS	12	125587278	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145931	125587278	8264617	7061	12169										
AACS	65985	hgsc.bcm.edu	37	chr12	125626685	125626685	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgccgtcaaacagatcatCgctggaaaagccgtggagca	12	10	2	1	rs3751180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125626685C>T	ENST00000316519.6	+	18	2135	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	AACS_ENST00000543665.1_Silent_p.I75I|AACS_ENST00000545511.1_Silent_p.I155I|AACS_ENST00000261686.6_Missense_Mutation_p.R576C|AACS_ENST00000316543.10_Silent_p.I241I	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	643					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.I643I(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AACAGATCATCGCTGGAAAAG	0.522													C|||	475	0.0948482	0.1278	0.0403	5008	,	,		21262	0.1994		0.0139	False		,,,				2504	0.0644				p.I643I		Atlas-SNP	.											AACS,NS,carcinoma,0,1	AACS	59	1	1	Substitution - coding silent(1)	stomach(1)	c.C1929T						PASS	.	C		480,3926	226.5+/-242.0	15,450,1738	115	106	109		1929	-9.3	0	12	dbSNP_107	109	125,8475	64.2+/-126.4	0,125,4175	no	coding-synonymous	AACS	NM_023928.3		15,575,5913	TT,TC,CC		1.4535,10.8942,4.6517		643/673	125626685	605,12401	2203	4300	6503	SO:0001819	synonymous_variant	65985	exon18			GATCATCGCTGGA	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1929C>T	12.37:g.125626685C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	CCDS9263.1	191	0.08745421245421245	53	0.10772357723577236	16	0.04419889502762431	115	0.20104895104895104	7	0.009234828496042216	C	12.82	2.052375	0.36181	0.108942	0.014535	ENSG00000081760	ENST00000261686	T	0.10099	2.91	4.63	-9.26	0.00662	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.38575	P	0.04996100000000003	B	0.06786	0.001	B	0.01281	0.0	T	0.40156	-0.9578	7	0.66056	D	0.02	.	3.6244	0.08108	0.0757:0.1654:0.1934:0.5654	rs3751180;rs3751180	576	Q86V21-2	.	C	576	ENSP00000261686:R576C	ENSP00000261686:R576C	R	+	1	0	AACS	124192638	0.645000	0.27286	0.000000	0.03702	0.005000	0.04900	-0.309000	0.08145	-2.789000	0.00357	-0.275000	0.10095	CGC	C|0.931;T|0.069	0.069	strong		0.522	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		T	125626685	C	T	125626685	2	4	22	1	0	0	0	0	0	0	0	1	9	874	31	1		1	AACS	12	125626685	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39407	125626685	8225210	7062	12170										
TMEM132B	114795	hgsc.bcm.edu	37	chr12	125834095	125834095	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctccaatgcagaggagtcCtttttccttaaagaagccaa	7	10	1	2	rs1491893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125834095C>A	ENST00000299308.3	+	2	158	c.150C>A	c.(148-150)tcC>tcA	p.S50S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	50						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGAGGAGTCCTTTTTCCTTA	0.532													C|||	1374	0.274361	0.1838	0.3458	5008	,	,		17454	0.2728		0.3012	False		,,,				2504	0.32				p.S50S		Atlas-SNP	.											.	TMEM132B	207	.	0			c.C150A						PASS	.	C		793,3097		79,635,1231	132	133	132		150	2	0.4	12	dbSNP_88	132	2441,5849		364,1713,2068	no	coding-synonymous	TMEM132B	NM_052907.2		443,2348,3299	AA,AC,CC		29.4451,20.3856,26.5517		50/1079	125834095	3234,8946	1945	4145	6090	SO:0001819	synonymous_variant	114795	exon2			GGAGTCCTTTTTC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.150C>A	12.37:g.125834095C>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	196	95	0.484694	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																			C|0.737;A|0.262	0.262	strong		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		A	125834095	C	A	125834095	2	1	22	1	0	0	0	0	0	0	0	1	16043	668	24	4		4	TMEM132B	12	125834095	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	207410	125834095	8017800	7063	12171										
TMEM132B	114795	hgsc.bcm.edu	37	chr12	125900104	125900104	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcagcaggtgtgaagatAacggcagtgagagtcagcag	17	7	1	3	rs143188464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:125900104A>T	ENST00000299308.3	+	3	980	c.972A>T	c.(970-972)atA>atT	p.I324I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	324						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGTGAAGATAACGGCAGTGA	0.468													A|||	30	0.00599042	0.0219	0.0014	5008	,	,		18015	0.0		0.0	False		,,,				2504	0.0				p.I324I		Atlas-SNP	.											.	TMEM132B	207	.	0			c.A972T						PASS	.	A		118,4212		0,118,2047	77	92	87		972	-11.3	0	12	dbSNP_134	87	1,8527		0,1,4263	no	coding-synonymous	TMEM132B	NM_052907.2		0,119,6310	TT,TA,AA		0.0117,2.7252,0.9255		324/1079	125900104	119,12739	2165	4264	6429	SO:0001819	synonymous_variant	114795	exon3			GAAGATAACGGCA	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.972A>T	12.37:g.125900104A>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	156	81	0.519231	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																			A|0.994;T|0.006	0.006	strong		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	125900104	A	T	125900104	2	4	22	1	0	0	0	0	0	0	0	1	16043	352	13	5		5	TMEM132B	12	125900104	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66009	125900104	7951791	7064	12172										
TMEM132B	114795	hgsc.bcm.edu	37	chr12	126137060	126137060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgaccgagtcaccatcgCggagctgggagtgcagctcg	16	11	1	1	rs61021440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:126137060C>T	ENST00000299308.3	+	8	1981	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A170V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658			A -> V (in dbSNP:rs16919359). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACCATCGCGGAGCTGGGA	0.587													C|||	1715	0.342452	0.5008	0.451	5008	,	,		21676	0.2768		0.2505	False		,,,				2504	0.2137				p.A658V		Atlas-SNP	.											TMEM132B,NS,carcinoma,-1,1	TMEM132B	207	1	0			c.C1973T						scavenged	.						47	51	50					12																	126137060		2106	4242	6348	SO:0001583	missense	114795	exon8			CCATCGCGGAGCT	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1973C>T	12.37:g.126137060C>T	ENSP00000299308:p.Ala658Val	Somatic	311	3	0.0096463		WXS	Illumina HiSeq	Phase_I	316	134	0.424051	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	613	0.2806776556776557	182	0.3699186991869919	135	0.3729281767955801	121	0.21153846153846154	175	0.23087071240105542	C	12.01	1.810105	0.32053	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.46063	0.88;0.88	5.53	4.64	0.57946	.	0.589970	0.16854	N	0.196801	T	0.00012	0.0000	N	0.12746	0.255	0.39908	P	0.02601500000000001	B	0.09022	0.002	B	0.06405	0.002	T	0.38134	-0.9675	9	0.40728	T	0.16	.	10.7695	0.46314	0.0:0.8542:0.0:0.1458	rs61021440;rs61748700	658	Q14DG7	T132B_HUMAN	V	658;170	ENSP00000299308:A658V;ENSP00000440436:A170V	ENSP00000299308:A658V	A	+	2	0	TMEM132B	124703013	0.003000	0.15002	0.256000	0.24389	0.132000	0.20833	1.919000	0.40015	1.317000	0.45149	0.655000	0.94253	GCG	C|0.759;T|0.241	0.241	strong		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126137060	C	T	126137060	3	4	22	1	0	0	0	0	1	0	0	0	16043	768	27	1	2003	1	TMEM132B	12	126137060	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	236956	126137060	7714835	7065	12173										
GLT1D1	144423	hgsc.bcm.edu	37	chr12	129360518	129360518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgcctttgactttgaaaGccgatctgagattgcaaacc	10	9	1	3	rs73438369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:129360518G>A	ENST00000442111.2	+	2	216	c.128G>A	c.(127-129)aGc>aAc	p.S43N	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.S43N|GLT1D1_ENST00000537468.1_Missense_Mutation_p.S32N			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	43					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GACTTTGAAAGCCGATCTGAG	0.488													G|||	82	0.0163738	0.059	0.0058	5008	,	,		16943	0.0		0.0	False		,,,				2504	0.0				p.S43N		Atlas-SNP	.											.	GLT1D1	48	.	0			c.G128A						PASS	.	G	ASN/SER	227,4179	135.3+/-171.4	3,221,1979	162	164	163		128	4.7	0.1	12	dbSNP_130	163	3,8597	3.7+/-12.6	0,3,4297	yes	missense	GLT1D1	NM_144669.1	46	3,224,6276	AA,AG,GG		0.0349,5.1521,1.7684	probably-damaging	43/267	129360518	230,12776	2203	4300	6503	SO:0001583	missense	144423	exon2			TTGAAAGCCGATC		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.128G>A	12.37:g.129360518G>A	ENSP00000394692:p.Ser43Asn	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	151	72	0.476821	NM_144669	Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37		31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	G	13.77	2.334875	0.41297	0.051521	3.49E-4	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79247	-1.25;0.74;0.69	5.54	4.65	0.58169	.	0.144833	0.64402	N	0.000006	T	0.46678	0.1405	M	0.77616	2.38	0.32213	N	0.576306	D;B	0.89917	1.0;0.037	D;B	0.76071	0.987;0.039	T	0.74163	-0.3754	10	0.22706	T	0.39	-25.057	9.1417	0.36908	0.0789:0.1461:0.775:0.0	.	32;43	F5H088;Q96MS3-2	.;.	N	43;43;32	ENSP00000394692:S43N;ENSP00000281703:S43N;ENSP00000438158:S32N	ENSP00000281703:S43N	S	+	2	0	GLT1D1	127926471	0.963000	0.33076	0.145000	0.22337	0.327000	0.28475	1.719000	0.38011	1.320000	0.45209	0.655000	0.94253	AGC	G|0.981;A|0.019	0.019	strong		0.488	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		A	129360518	G	A	129360518	3	1	22	1	0	0	0	0	1	0	0	0	6465	971	34	2	134	2	GLT1D1	12	129360518	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3223458	129360518	4491377	7066	12174										
TMEM132D	121256	hgsc.bcm.edu	37	chr12	129559086	129559086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcgctggggatggtctgCaagtggctgttgtcatctaa	15	7	3	0	rs555131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:129559086C>A	ENST00000422113.2	-	9	2960	c.2634G>T	c.(2632-2634)ttG>ttT	p.L878F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L416F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	878			L -> F (in dbSNP:rs555131).		negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGATGGTCTGCAAGTGGCTGT	0.557													C|||	269	0.0537141	0.1672	0.0231	5008	,	,		19621	0.001		0.0278	False		,,,				2504	0.0031				p.L878F		Atlas-SNP	.											.	TMEM132D	299	.	0			c.G2634T						PASS	.	C	PHE/LEU	548,3858	247.2+/-255.5	40,468,1695	86	85	86		2634	-1.8	0	12	dbSNP_83	86	255,8345	100.1+/-161.6	1,253,4046	yes	missense	TMEM132D	NM_133448.2	22	41,721,5741	AA,AC,CC		2.9651,12.4376,6.1741	benign	878/1100	129559086	803,12203	2203	4300	6503	SO:0001583	missense	121256	exon9			GGTCTGCAAGTGG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2634G>T	12.37:g.129559086C>A	ENSP00000408581:p.Leu878Phe	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	141	72	0.510638	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	117	0.05357142857142857	87	0.17682926829268292	7	0.019337016574585635	1	0.0017482517482517483	22	0.029023746701846966	C	0.653	-0.808627	0.02819	0.124376	0.029651	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10382	2.88;3.68	4.2	-1.75	0.08031	.	0.435538	0.18481	N	0.139921	T	0.00012	0.0000	L	0.49455	1.56	0.58432	P	6.999999999979245E-6	B;B	0.14012	0.001;0.009	B;B	0.11329	0.004;0.006	T	0.37753	-0.9692	8	.	.	.	-0.3828	1.8639	0.03194	0.3467:0.3649:0.1333:0.1552	rs555131;rs52800417;rs61225719;rs555131	878;416	Q14C87;Q14C87-2	T132D_HUMAN;.	F	416;878	ENSP00000374092:L416F;ENSP00000408581:L878F	.	L	-	3	2	TMEM132D	128125039	0.000000	0.05858	0.020000	0.16555	0.020000	0.10135	-0.759000	0.04761	-0.287000	0.09064	0.462000	0.41574	TTG	C|0.938;A|0.062	0.062	strong		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129559086	C	A	129559086	3	1	22	1	0	0	0	0	1	0	0	0	16044	709	25	4	669	4	TMEM132D	12	129559086	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	198568	129559086	4292809	7067	12175										
TMEM132D	121256	hgsc.bcm.edu	37	chr12	129559557	129559557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcgtaaatatccaagggCgtgactgagccatcactgaa	9	11	1	3	rs10773594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:129559557C>T	ENST00000422113.2	-	9	2489	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	TMEM132D_ENST00000389441.4_Silent_p.T259T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	721					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TATCCAAGGGCGTGACTGAGC	0.463													T|||	3226	0.644169	0.6278	0.6888	5008	,	,		19697	0.5645		0.6769	False		,,,				2504	0.683				p.T721T		Atlas-SNP	.											TMEM132D,bladder,carcinoma,-2,2	TMEM132D	299	2	0			c.G2163A						PASS	.	T		2873,1533	478.5+/-358.2	967,939,297	61	56	57		2163	-8.6	0.8	12	dbSNP_120	57	5923,2677	416.9+/-352.3	2035,1853,412	no	coding-synonymous	TMEM132D	NM_133448.2		3002,2792,709	TT,TC,CC		31.1279,34.7935,32.3697		721/1100	129559557	8796,4210	2203	4300	6503	SO:0001819	synonymous_variant	121256	exon9			CAAGGGCGTGACT	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2163G>A	12.37:g.129559557C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	39	13	0.333333	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																			C|0.337;T|0.663	0.663	strong		0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129559557	C	T	129559557	2	4	22	1	0	0	0	0	0	0	0	1	16044	755	27	1		1	TMEM132D	12	129559557	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	471	129559557	4292338	7068	12176										
FZD10	11211	hgsc.bcm.edu	37	chr12	130647709	130647709	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcacgagttcgcgccgctGgtggagtacggctgccacgg	16	12	0	0	rs10848026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:130647709G>C	ENST00000229030.4	+	1	706	c.222G>C	c.(220-222)ctG>ctC	p.L74L	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.G42R			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	74	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCGCGCCGCTGGTGGAGTACG	0.647													G|||	1603	0.320088	0.3313	0.1988	5008	,	,		12082	0.4722		0.1819	False		,,,				2504	0.3763				p.L74L		Atlas-SNP	.											.	FZD10	95	.	0			c.G222C						PASS	.	G		1308,3098		220,868,1115	40	39	39		222	0	1	12	dbSNP_120	39	1675,6917		159,1357,2780	no	coding-synonymous	FZD10	NM_007197.3		379,2225,3895	CC,CG,GG		19.4949,29.6868,22.9497		74/582	130647709	2983,10015	2203	4296	6499	SO:0001819	synonymous_variant	11211	exon1			GCCGCTGGTGGAG	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.222G>C	12.37:g.130647709G>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	134	58	0.432836	NM_007197		Silent	SNP	ENST00000229030.4	37	CCDS9267.1	632	0.2893772893772894	162	0.32926829268292684	73	0.20165745856353592	264	0.46153846153846156	133	0.17546174142480211	G	9.459	1.092508	0.20471	0.296868	0.194949	ENSG00000111432	ENST00000539839	.	.	.	4.4	0.0303	0.14166	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.46020	-0.9221	4	0.87932	D	0	.	9.7557	0.40502	0.0775:0.4099:0.5125:0.0	rs10848026;rs10848026	.	.	.	R	42	.	ENSP00000438460:G42R	G	+	1	0	FZD10	129213662	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.702000	0.37836	-0.345000	0.08325	-0.305000	0.09177	GGT	G|0.760;C|0.240	0.240	strong		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	130647709	G	C	130647709	2	2	22	1	0	0	0	0	0	0	0	1	6129	1335	47	4		4	FZD10	12	130647709	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1088152	130647709	3204186	7069	12177										
GPR133	283383	hgsc.bcm.edu	37	chr12	131622735	131622735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcgctcacgagcagctcTgcccgcacctccaacgcgaa	10	17	2	0	rs7302341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:131622735T>C	ENST00000261654.5	+	24	3049	c.2490T>C	c.(2488-2490)tcT>tcC	p.S830S	GPR133_ENST00000535015.1_Silent_p.S862S|GPR133_ENST00000543617.1_Silent_p.S349S|GPR133_ENST00000376682.4_Silent_p.S516S|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	830					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGAGCAGCTCTGCCCGCACCT	0.602													C|||	3325	0.663938	0.3495	0.7378	5008	,	,		16161	0.9306		0.6471	False		,,,				2504	0.7791				p.S830S		Atlas-SNP	.											.	GPR133	136	.	0			c.T2490C						PASS	.	C		1845,2561	634.3+/-396.2	381,1083,739	95	75	81		2490	-1.8	0	12	dbSNP_116	81	5396,3204	483.9+/-371.3	1691,2014,595	no	coding-synonymous	GPR133	NM_198827.3		2072,3097,1334	CC,CT,TT		37.2558,41.8747,44.3257		830/875	131622735	7241,5765	2203	4300	6503	SO:0001819	synonymous_variant	283383	exon24			CAGCTCTGCCCGC	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2490T>C	12.37:g.131622735T>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	52	21	0.403846	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1	1458	0.6675824175824175	174	0.35365853658536583	258	0.712707182320442	531	0.9283216783216783	495	0.6530343007915568	C	5.077	0.199830	0.09652	0.418747	0.627442	ENSG00000111452	ENST00000335486	.	.	.	4.46	-1.77	0.07982	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.23232	P	0.9980725	.	.	.	.	.	.	T	0.23119	-1.0197	3	.	.	.	.	10.5216	0.44922	0.0:0.4617:0.0:0.5383	rs7302341;rs7302341	.	.	.	P	184	.	.	L	+	2	0	GPR133	130188688	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-3.362000	0.00497	-0.786000	0.04516	-1.050000	0.02344	CTG	T|0.416;C|0.584	0.584	strong		0.602	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		C	131622735	T	C	131622735	2	2	22	1	0	0	0	0	0	0	0	1	6643	1567	55	3		3	GPR133	12	131622735	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	975026	131622735	2229160	7070	12178										
SFRS8	6433	hgsc.bcm.edu	37	chr12	132237789	132237789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccttcctgctggcgtgacCgtgtctaactcccctggagt	10	15	1	1	rs202066133		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132237789C>T	ENST00000261674.4	+	8	1344	c.1203C>T	c.(1201-1203)acC>acT	p.T401T	SFSWAP_ENST00000541286.1_Silent_p.T401T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	401					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGGCGTGACCGTGTCTAACT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16980	0.0		0.0	False		,,,				2504	0.0				p.T401T		Atlas-SNP	.											.	SFSWAP	69	.	0			c.C1203T						PASS	.	C		3,4403	6.2+/-15.9	0,3,2200	174	146	156		1203	-2.4	0.9	12		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SFSWAP	NM_004592.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		401/952	132237789	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6433	exon8			CGTGACCGTGTCT	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1203C>T	12.37:g.132237789C>T		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	170	70	0.411765	NM_001261411	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.548	0.662175	0.14645	6.81E-4	1.16E-4	ENSG00000061936	ENST00000537164	.	.	.	5.41	-2.37	0.06643	.	.	.	.	.	T	0.51517	0.1679	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45818	-0.9235	4	.	.	.	-14.7257	7.8087	0.29217	0.0:0.2462:0.2063:0.5475	.	.	.	.	L	41	.	.	P	+	2	0	SFSWAP	130803742	0.647000	0.27304	0.908000	0.35775	0.652000	0.38707	-0.321000	0.08018	-0.413000	0.07507	0.561000	0.74099	CCG	C|1.000;T|0.000	0.000	strong		0.637	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		T	132237789	C	T	132237789	2	4	22	1	0	0	0	0	0	0	0	1	14183	639	23	1		1	SFRS8	12	132237789	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	615054	132237789	1614106	7071	12179										
MMP17	4326	hgsc.bcm.edu	37	chr12	132326298	132326298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggtgggtgacccgctgcGctacgggctcccctacgagg	15	16	0	1	rs35466884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132326298G>A	ENST00000360564.1	+	5	938	c.836G>A	c.(835-837)cGc>cAc	p.R279H	MMP17_ENST00000535291.1_Missense_Mutation_p.R195H|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	279					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GACCCGCTGCGCTACGGGCTC	0.647													G|||	1264	0.252396	0.3177	0.1599	5008	,	,		16971	0.1657		0.1869	False		,,,				2504	0.3865				p.R279H		Atlas-SNP	.											.	MMP17	77	.	0			c.G836A						PASS	.	G	HIS/ARG	1424,2982	453.2+/-350.3	234,956,1013	53	45	48		836	-1.4	1	12	dbSNP_126	48	1431,7169	267.9+/-287.5	125,1181,2994	yes	missense	MMP17	NM_016155.4	29	359,2137,4007	AA,AG,GG		16.6395,32.3196,21.9514	benign	279/604	132326298	2855,10151	2203	4300	6503	SO:0001583	missense	4326	exon5			CGCTGCGCTACGG	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.836G>A	12.37:g.132326298G>A	ENSP00000353767:p.Arg279His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	97	40	0.412371	NM_016155	Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	CCDS31927.1	439	0.20100732600732601	165	0.3353658536585366	45	0.12430939226519337	96	0.16783216783216784	133	0.17546174142480211	G	9.571	1.121060	0.20877	0.323196	0.166395	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.17054	2.3;2.3;2.51	4.15	-1.36	0.09085	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.933443	0.08804	N	0.891295	T	0.00012	0.0000	N	0.11892	0.195	0.09310	P	0.99999999683036	B	0.11235	0.004	B	0.09377	0.004	T	0.47586	-0.9106	9	0.51188	T	0.08	.	5.4444	0.16527	0.6075:0.1672:0.2252:0.0	rs35466884;rs61942396	279	Q9ULZ9	MMP17_HUMAN	H	279;195;120	ENSP00000353767:R279H;ENSP00000441106:R195H;ENSP00000442104:R120H	ENSP00000353767:R279H	R	+	2	0	MMP17	130892251	1.000000	0.71417	0.989000	0.46669	0.024000	0.10985	2.944000	0.49034	-0.146000	0.11274	-0.233000	0.12211	CGC	G|0.780;A|0.220	0.220	strong		0.647	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		A	132326298	G	A	132326298	3	1	22	1	0	0	0	0	1	0	0	0	9656	1087	38	1	854	1	MMP17	12	132326298	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88509	132326298	1525597	7072	12180										
MMP17	4326	hgsc.bcm.edu	37	chr12	132329666	132329666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctctctccctgcaggccCaggaaggacgtgccccacag	12	16	1	0	rs36031288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132329666C>T	ENST00000360564.1	+	7	1074	c.972C>T	c.(970-972)ccC>ccT	p.P324P	MMP17_ENST00000535004.1_5'Flank|MMP17_ENST00000535291.1_Silent_p.P240P|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	324					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCTGCAGGCCCAGGAAGGACG	0.667													C|||	191	0.038139	0.1377	0.0101	5008	,	,		15735	0.0		0.002	False		,,,				2504	0.0				p.P324P		Atlas-SNP	.											.	MMP17	77	.	0			c.C972T						PASS	.	C		485,3921	225.9+/-241.6	31,423,1749	73	70	71		972	-2.7	0.1	12	dbSNP_126	71	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	MMP17	NM_016155.4		31,429,6043	TT,TC,CC		0.0698,11.0077,3.7752		324/604	132329666	491,12515	2203	4300	6503	SO:0001819	synonymous_variant	4326	exon7			CAGGCCCAGGAAG	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.972C>T	12.37:g.132329666C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	118	58	0.491525	NM_016155	Q14850	Silent	SNP	ENST00000360564.1	37	CCDS31927.1																																																																																			C|0.961;T|0.039	0.039	strong		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		T	132329666	C	T	132329666	2	4	22	1	0	0	0	0	0	0	0	1	9656	581	21	2		2	MMP17	12	132329666	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3368	132329666	1522229	7073	12181										
ULK1	8408	hgsc.bcm.edu	37	chr12	132404101	132404101	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatcgaccagatccgggcCggcaagctctgcctgtcgtc					rs143340589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132404101C>T	ENST00000321867.4	+	25	3120	c.2769C>T	c.(2767-2769)gcC>gcT	p.A923A	ULK1_ENST00000540647.1_Silent_p.A168A	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	923					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGATCCGGGCCGGCAAGCTCT	0.662													C|||	7	0.00139776	0.0053	0.0	5008	,	,		16277	0.0		0.0	False		,,,				2504	0.0				p.A923A		Atlas-SNP	.											.	ULK1	92	.	0			c.C2769T						PASS	.	C		29,4377	34.3+/-65.2	0,29,2174	62	66	65		2769	-4.8	0.9	12	dbSNP_134	65	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ULK1	NM_003565.2		0,30,6472	TT,TC,CC		0.0116,0.6582,0.2307		923/1051	132404101	30,12974	2203	4299	6502	SO:0001819	synonymous_variant	8408	exon25			CCGGGCCGGCAAG	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2769C>T	12.37:g.132404101C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	77	28	0.363636	NM_003565	Q9UQ28	Silent	SNP	ENST00000321867.4	37	CCDS9274.1																																																																																			C|0.998;T|0.002	0.002	strong		0.662	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			T	132404101	C	T	132404101	2	4	22	1	0	0	0	0	0	0	0	1	16972	639	23	1		1	ULK1	12	132404101	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74435	132404101	1447794	7074	12182	252	2								
ULK1	8408	hgsc.bcm.edu	37	chr12	132404110	132404110	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatccgggccggcaagctCtgcctgtcgtccactgtgaa					rs113954208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132404110C>T	ENST00000321867.4	+	25	3129	c.2778C>T	c.(2776-2778)ctC>ctT	p.L926L	ULK1_ENST00000540647.1_Silent_p.L171L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	926					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGGCAAGCTCTGCCTGTCGT	0.657													C|||	16	0.00319489	0.0121	0.0	5008	,	,		16514	0.0		0.0	False		,,,				2504	0.0				p.L926L		Atlas-SNP	.											.	ULK1	92	.	0			c.C2778T						PASS	.	C		72,4334	63.5+/-100.7	1,70,2132	63	68	66		2778	1.7	1	12	dbSNP_132	66	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ULK1	NM_003565.2		1,71,6430	TT,TC,CC		0.0116,1.6341,0.5614		926/1051	132404110	73,12931	2203	4299	6502	SO:0001819	synonymous_variant	8408	exon25			CAAGCTCTGCCTG	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2778C>T	12.37:g.132404110C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	69	41	0.594203	NM_003565	Q9UQ28	Silent	SNP	ENST00000321867.4	37	CCDS9274.1																																																																																			C|0.994;T|0.006	0.006	strong		0.657	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			T	132404110	C	T	132404110	2	4	22	1	0	0	0	0	0	0	0	1	16972	900	32	2		2	ULK1	12	132404110	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	132404110	1447785	7075	12183	252	2								
EP400	57634	hgsc.bcm.edu	37	chr12	132508389	132508389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagccgcgtggctcagccAgagacgccggtgacactgca	14	14	1	3	rs7133119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132508389A>G	ENST00000333577.4	+	25	4975	c.4866A>G	c.(4864-4866)ccA>ccG	p.P1622P	EP400_ENST00000389562.2_Silent_p.P1585P|EP400_ENST00000389561.2_Silent_p.P1586P|EP400_ENST00000330386.6_Silent_p.P1505P|EP400_ENST00000332482.4_Silent_p.P1549P			Q96L91	EP400_HUMAN	E1A binding protein p400	1622					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P1585P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGCTCAGCCAGAGACGCCGG	0.582													G|||	1646	0.328674	0.7973	0.1729	5008	,	,		15201	0.1458		0.1282	False		,,,				2504	0.2004				p.P1586P		Atlas-SNP	.											EP400,NS,carcinoma,0,1	EP400	370	1	1	Substitution - coding silent(1)	stomach(1)	c.A4758G						PASS	.	G		3023,1383	454.4+/-350.6	1055,913,235	48	49	49		4758	-10.4	0.6	12	dbSNP_116	49	982,7618	773.8+/-407.7	59,864,3377	no	coding-synonymous	EP400	NM_015409.4		1114,1777,3612	GG,GA,AA		11.4186,31.389,30.7935		1586/3124	132508389	4005,9001	2203	4300	6503	SO:0001819	synonymous_variant	57634	exon24			TCAGCCAGAGACG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4866A>G	12.37:g.132508389A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	230	228	0.991304	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				A|0.700;G|0.300	0.300	strong		0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132508389	A	G	132508389	2	3	22	1	0	0	0	0	0	0	0	1	5149	175	7	3		3	EP400	12	132508389	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	104279	132508389	1343506	7076	12184										
EP400	57634	hgsc.bcm.edu	37	chr12	132514288	132514288	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtggcagcacccccgtcCctacgggtgccgcggccgcc	15	18	0	0	rs58319354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132514288C>G	ENST00000333577.4	+	29	5641	c.5532C>G	c.(5530-5532)tcC>tcG	p.S1844S	EP400_ENST00000332482.4_Silent_p.S1771S|EP400_ENST00000389561.2_Silent_p.S1808S|EP400_ENST00000389562.2_Silent_p.S1807S|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000330386.6_Silent_p.S1727S			Q96L91	EP400_HUMAN	E1A binding protein p400	1844					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACCCCCGTCCCTACGGGTGC	0.632													C|||	645	0.128794	0.3517	0.0389	5008	,	,		17812	0.0714		0.0447	False		,,,				2504	0.0368				p.S1808S		Atlas-SNP	.											.	EP400	370	.	0			c.C5424G						PASS	.	C		1344,3058		215,914,1072	37	41	40		5424	1.7	0	12	dbSNP_129	40	213,8377		3,207,4085	no	coding-synonymous	EP400	NM_015409.4		218,1121,5157	GG,GC,CC		2.4796,30.5316,11.9843		1808/3124	132514288	1557,11435	2201	4295	6496	SO:0001819	synonymous_variant	57634	exon28			CCCGTCCCTACGG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5532C>G	12.37:g.132514288C>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	74	26	0.351351	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				C|0.882;G|0.118	0.118	strong		0.632	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132514288	C	G	132514288	2	3	22	1	0	0	0	0	0	0	0	1	5149	610	22	4		4	EP400	12	132514288	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5899	132514288	1337607	7077	12185										
EP400	57634	hgsc.bcm.edu	37	chr12	132547068	132547068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacatttccagcttctcaGgcagcagcagcagcagcagc	10	14	1	0	rs68030464|rs367737531|rs60930033		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132547068G>A	ENST00000333577.4	+	48	8373	c.8264G>A	c.(8263-8265)aGg>aAg	p.R2755K	EP400_ENST00000389561.2_Missense_Mutation_p.R2719K|EP400_ENST00000389562.2_Missense_Mutation_p.R2718K|EP400_ENST00000330386.6_Missense_Mutation_p.R2638K|EP400_ENST00000332482.4_Missense_Mutation_p.R2682K			Q96L91	EP400_HUMAN	E1A binding protein p400	2755	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R2718K(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCTTCTCAGgcagcagcag	0.567																																					p.R2719K		Atlas-SNP	.											EP400,NS,carcinoma,0,2	EP400	370	2	2	Substitution - Missense(2)	lung(2)	c.G8156A						scavenged	.						48	48	48					12																	132547068		2203	4300	6503	SO:0001583	missense	57634	exon47			TTCTCAGGCAGCA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8264G>A	12.37:g.132547068G>A	ENSP00000333602:p.Arg2755Lys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	3	0.032967	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840128	0.51057	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.89	4.89	0.63831	.	0.266539	0.31542	N	0.007465	D	0.91264	0.7246	L	0.27053	0.805	0.26223	N	0.97913	D;D;D	0.53312	0.959;0.959;0.959	D;D;D	0.65684	0.937;0.937;0.937	D	0.84986	0.0891	10	0.29301	T	0.29	.	17.0403	0.86487	0.0:0.0:1.0:0.0	.	2719;2638;2718	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	2755;2719;2718;2682;2638;2719	ENSP00000333602:R2755K;ENSP00000374212:R2719K;ENSP00000374213:R2718K;ENSP00000331737:R2682K;ENSP00000330620:R2638K	ENSP00000330620:R2638K	R	+	2	0	EP400	131113021	1.000000	0.71417	0.878000	0.34440	0.286000	0.27126	5.957000	0.70323	2.236000	0.73375	0.561000	0.74099	AGG	.	.	none		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547068	G	A	132547068	3	1	22	1	0	0	0	0	1	0	0	0	5149	1000	35	2	8335	2	EP400	12	132547068	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32780	132547068	1304827	7078	12186										
EP400	57634	hgsc.bcm.edu	37	chr12	132547162	132547162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagcagcaacagacgacGacgacctctcaggtgcaagt	11	13	1	1	rs55938102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132547162G>A	ENST00000333577.4	+	48	8467	c.8358G>A	c.(8356-8358)acG>acA	p.T2786T	EP400_ENST00000389561.2_Silent_p.T2750T|EP400_ENST00000389562.2_Silent_p.T2749T|EP400_ENST00000330386.6_Silent_p.T2669T|EP400_ENST00000332482.4_Silent_p.T2713T			Q96L91	EP400_HUMAN	E1A binding protein p400	2786	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aacagACGACGACGACCTCTC	0.607													G|||	639	0.127596	0.3321	0.036	5008	,	,		15276	0.0734		0.0447	False		,,,				2504	0.0573				p.T2750T		Atlas-SNP	.											.	EP400	370	.	0			c.G8250A						PASS	.	G		1278,3128	431.4+/-342.9	193,892,1118	79	62	68		8250	0.8	0	12	dbSNP_129	68	214,8386	89.2+/-151.4	4,206,4090	no	coding-synonymous	EP400	NM_015409.4		197,1098,5208	AA,AG,GG		2.4884,29.0059,11.4716		2750/3124	132547162	1492,11514	2203	4300	6503	SO:0001819	synonymous_variant	57634	exon47			GACGACGACGACC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8358G>A	12.37:g.132547162G>A		Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	262	132	0.503817	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				G|0.890;A|0.110	0.110	strong		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547162	G	A	132547162	2	1	22	1	0	0	0	0	0	0	0	1	5149	1045	37	1		1	EP400	12	132547162	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94	132547162	1304733	7079	12187										
EP400	57634	hgsc.bcm.edu	37	chr12	132549300	132549300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctgcgcccccgcagccaAcagcccaagtgcaagtgcag	11	16	1	0	rs7136109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132549300A>G	ENST00000333577.4	+	49	8639	c.8530A>G	c.(8530-8532)Aca>Gca	p.T2844A	EP400_ENST00000389561.2_Missense_Mutation_p.T2808A|EP400_ENST00000389562.2_Missense_Mutation_p.T2807A|EP400_ENST00000330386.6_Missense_Mutation_p.T2727A|EP400_ENST00000332482.4_Missense_Mutation_p.T2771A			Q96L91	EP400_HUMAN	E1A binding protein p400	2844				T -> A (in Ref. 1; AAK97789 and 7; AAB91441). {ECO:0000305}.	chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGCAGCCAACAGCCCAAGT	0.652													A|||	758	0.151358	0.5545	0.0303	5008	,	,		12499	0.0		0.004	False		,,,				2504	0.0				p.T2808A		Atlas-SNP	.											.	EP400	370	.	0			c.A8422G						PASS	.	A	ALA/THR	1958,2442	493.8+/-362.8	442,1074,684	29	44	39		8422	-2	0	12	dbSNP_116	39	24,8572	16.0+/-53.3	0,24,4274	yes	missense	EP400	NM_015409.4	58	442,1098,4958	GG,GA,AA		0.2792,44.5,15.2508	benign	2808/3124	132549300	1982,11014	2200	4298	6498	SO:0001583	missense	57634	exon48			CAGCCAACAGCCC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8530A>G	12.37:g.132549300A>G	ENSP00000333602:p.Thr2844Ala	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		257	0.11767399267399267	242	0.491869918699187	13	0.03591160220994475	0	0.0	2	0.002638522427440633	A	4.805	0.149598	0.09185	0.445	0.002792	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.89681	-2.49;-2.49;-2.53;-2.52;-2.55	4.97	-1.96	0.07525	.	0.381428	0.28360	N	0.015636	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B	0.23316	0.05;0.083;0.043;0.0	B;B;B;B	0.23419	0.04;0.046;0.046;0.0	T	0.17806	-1.0357	9	0.08179	T	0.78	.	8.3027	0.32023	0.2929:0.2481:0.4589:0.0	rs7136109	2844;2808;2727;2807	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	A	2844;2808;2807;2771;2727;2808	ENSP00000333602:T2844A;ENSP00000374212:T2808A;ENSP00000374213:T2807A;ENSP00000331737:T2771A;ENSP00000330620:T2727A	ENSP00000330620:T2727A	T	+	1	0	EP400	131115253	0.000000	0.05858	0.000000	0.03702	0.496000	0.33645	-0.458000	0.06737	-0.616000	0.05671	-0.589000	0.04120	ACA	A|0.883;G|0.117	0.117	strong		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132549300	A	G	132549300	3	3	22	1	0	0	0	0	1	0	0	0	5149	43	2	2	8605	2	EP400	12	132549300	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2138	132549300	1302595	7080	12188										
DDX51	317781	hgsc.bcm.edu	37	chr12	132625884	132625884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggggtccgcggggtcctCgctctggaaggcggccgcca	17	14	1	0	rs142395492	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132625884C>T	ENST00000397333.3	-	8	1224	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	396	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCGGGGTCCTCGCTCTGGAAG	0.682													C|||	46	0.0091853	0.0318	0.0043	5008	,	,		14725	0.0		0.001	False		,,,				2504	0.0				p.E396K		Atlas-SNP	.											.	DDX51	33	.	0			c.G1186A						PASS	.	C	LYS/GLU	117,3883		6,105,1889	43	54	51		1186	1.9	0	12	dbSNP_134	51	5,8245		0,5,4120	no	missense	DDX51	NM_175066.3	56	6,110,6009	TT,TC,CC		0.0606,2.925,0.9959	benign	396/667	132625884	122,12128	2000	4125	6125	SO:0001583	missense	317781	exon8			GGTCCTCGCTCTG	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1186G>A	12.37:g.132625884C>T	ENSP00000380495:p.Glu396Lys	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	28	18	0.642857	NM_175066	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	18	0.008241758241758242	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	11.56	1.674865	0.29783	0.02925	6.06E-4	ENSG00000185163	ENST00000397333	T	0.12255	2.7	4.79	1.92	0.25849	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.770658	0.12492	N	0.464146	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.20184	0.028	T	0.44221	-0.9342	10	0.14252	T	0.57	-14.9068	5.9048	0.18986	0.0:0.6566:0.1608:0.1826	.	396	Q8N8A6	DDX51_HUMAN	K	396	ENSP00000380495:E396K	ENSP00000380495:E396K	E	-	1	0	DDX51	131191837	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.982000	0.29539	0.438000	0.26450	-0.229000	0.12294	GAG	C|0.992;T|0.008	0.008	strong		0.682	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		T	132625884	C	T	132625884	3	4	22	1	0	0	0	0	1	0	0	0	4369	893	31	1	846	1	DDX51	12	132625884	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76584	132625884	1226011	7081	12189										
DDX51	317781	hgsc.bcm.edu	37	chr12	132626425	132626425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaggctctcctgctccttgGccagagacttctgtcccgta	10	15	2	1	rs60927391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132626425G>A	ENST00000397333.3	-	6	1003	c.965C>T	c.(964-966)gCc>gTc	p.A322V	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	322	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		A -> V (in dbSNP:rs60927391). {ECO:0000269|PubMed:14702039}.		rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CTGCTCCTTGGCCAGAGACTT	0.572													G|||	1433	0.286142	0.5446	0.2017	5008	,	,		18216	0.1786		0.1809	False		,,,				2504	0.2157				p.A322V		Atlas-SNP	.											.	DDX51	33	.	0			c.C965T						PASS	.	G	VAL/ALA	1871,2029		446,979,525	63	64	64		965	3.1	1	12	dbSNP_129	64	1520,6764		168,1184,2790	yes	missense	DDX51	NM_175066.3	64	614,2163,3315	AA,AG,GG		18.3486,47.9744,27.8316	benign	322/667	132626425	3391,8793	1950	4142	6092	SO:0001583	missense	317781	exon6			TCCTTGGCCAGAG	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.965C>T	12.37:g.132626425G>A	ENSP00000380495:p.Ala322Val	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	166	75	0.451807	NM_175066	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	573	0.2623626373626374	258	0.524390243902439	68	0.1878453038674033	110	0.19230769230769232	137	0.18073878627968337	G	12.78	2.039785	0.35989	0.479744	0.183486	ENSG00000185163	ENST00000397333	T	0.17528	2.27	4.95	3.06	0.35304	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.247526	0.40144	N	0.001173	T	0.00012	0.0000	N	0.13198	0.31	0.26266	P	0.9785098	B	0.24186	0.099	B	0.31751	0.135	T	0.42882	-0.9425	9	0.19590	T	0.45	-15.3121	6.5455	0.22404	0.3132:0.0:0.6868:0.0	rs60927391;rs61729148	322	Q8N8A6	DDX51_HUMAN	V	322	ENSP00000380495:A322V	ENSP00000380495:A322V	A	-	2	0	DDX51	131192378	1.000000	0.71417	0.997000	0.53966	0.764000	0.43329	3.027000	0.49697	0.445000	0.26639	0.491000	0.48974	GCC	G|0.765;A|0.235	0.235	strong		0.572	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		A	132626425	G	A	132626425	3	1	22	1	0	0	0	0	1	0	0	0	4369	1203	42	2	1075	2	DDX51	12	132626425	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	541	132626425	1225470	7082	12190										
DDX51	317781	hgsc.bcm.edu	37	chr12	132628281	132628281	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacccccccagcaccaggcCggggaccaggggtccggccg					rs78871841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132628281C>T	ENST00000397333.3	-	2	516	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	160					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGCACCAGGCCGGGGACCAGG	0.751													c|||	254	0.0507188	0.0802	0.0043	5008	,	,		10953	0.0476		0.0219	False		,,,				2504	0.0767				p.G160S		Atlas-SNP	.											.	DDX51	33	.	0			c.G478A						PASS	.		SER/GLY	138,2788		1,136,1326	3	4	3		478	1.6	0	12	dbSNP_131	3	24,6890		0,24,3433	yes	missense	DDX51	NM_175066.3	56	1,160,4759	TT,TC,CC		0.3471,4.7163,1.6463	benign	160/667	132628281	162,9678	1463	3457	4920	SO:0001583	missense	317781	exon2			CCAGGCCGGGGAC	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.478G>A	12.37:g.132628281C>T	ENSP00000380495:p.Gly160Ser	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	16	6	0.375	NM_175066	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	82	0.037545787545787544	30	0.06097560975609756	6	0.016574585635359115	26	0.045454545454545456	20	0.026385224274406333	c	0.472	-0.883980	0.02530	0.047163	0.003471	ENSG00000185163	ENST00000397333	T	0.01725	4.67	2.49	1.59	0.23543	.	0.789795	0.11401	U	0.567852	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.49504	-0.8933	10	0.13853	T	0.58	-1.4426	5.097	0.14739	0.0:0.8312:0.0:0.1688	.	160	Q8N8A6	DDX51_HUMAN	S	160	ENSP00000380495:G160S	ENSP00000380495:G160S	G	-	1	0	DDX51	131194234	0.000000	0.05858	0.012000	0.15200	0.059000	0.15707	0.104000	0.15313	0.624000	0.30286	0.479000	0.44913	GGC	C|0.962;T|0.038	0.038	strong		0.751	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		T	132628281	C	T	132628281	3	4	22	1	0	0	0	0	1	0	0	0	4369	652	23	1	1578	1	DDX51	12	132628281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1856	132628281	1223614	7083	12191	253	2								
DDX51	317781	hgsc.bcm.edu	37	chr12	132628285	132628285	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccccagcaccaggccgggGaccaggggtccggccgcctc					rs191101265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132628285G>A	ENST00000397333.3	-	2	512	c.474C>T	c.(472-474)gtC>gtT	p.V158V	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	158					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCAGGCCGGGGACCAGGGGTC	0.761													g|||	215	0.0429313	0.0492	0.0043	5008	,	,		10654	0.0476		0.0219	False		,,,				2504	0.0787				p.V158V		Atlas-SNP	.											.	DDX51	33	.	0			c.C474T						PASS	.			71,2853		0,71,1391	3	4	3		474	-1.3	0	12		3	17,6853		0,17,3418	no	coding-synonymous	DDX51	NM_175066.3		0,88,4809	AA,AG,GG		0.2475,2.4282,0.8985		158/667	132628285	88,9706	1462	3435	4897	SO:0001819	synonymous_variant	317781	exon2			GCCGGGGACCAGG	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.474C>T	12.37:g.132628285G>A		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	16	6	0.375	NM_175066	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	CCDS41865.1																																																																																			G|0.968;A|0.032	0.032	strong		0.761	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		A	132628285	G	A	132628285	2	1	22	1	0	0	0	0	0	0	0	1	4369	1161	41	2		2	DDX51	12	132628285	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	132628285	1223610	7084	12192	253	2								
GALNT9	50614	hgsc.bcm.edu	37	chr12	132681664	132681664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggggtcagtgccgtgcGtgtttgatccagtttctgat	15	7	2	2	rs111344752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:132681664G>A	ENST00000328957.8	-	11	1799	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	GALNT9_ENST00000397325.2_Silent_p.H234H|GALNT9_ENST00000535228.1_Silent_p.H351H|GALNT9_ENST00000541995.1_Silent_p.H234H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	600	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		AGTGCCGTGCGTGTTTGATCC	0.642													g|||	68	0.0135783	0.0499	0.0014	5008	,	,		15532	0.0		0.0	False		,,,				2504	0.001				p.H600H	Colon(186;2147 2752 13553 41466)	Atlas-SNP	.											.	GALNT9	74	.	0			c.C1800T						PASS	.		,	176,3898		3,170,1864	85	100	95		723,702	-6.2	0	12	dbSNP_132	95	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	GALNT9	NM_001122636.1.dup,NM_021808.3	,	3,170,6052	AA,AG,GG		0.0,4.3201,1.4137	,	241/245,234/238	132681664	176,12274	2037	4188	6225	SO:0001819	synonymous_variant	50614	exon11			CCGTGCGTGTTTG	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1800C>T	12.37:g.132681664G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	129	64	0.496124	NM_001122636	Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	37		20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	g	0.018	-1.482667	0.01027	0.043201	0.0	ENSG00000182870	ENST00000411988	.	.	.	4.45	-6.24	0.02046	.	.	.	.	.	T	0.09905	0.0243	.	.	.	0.30680	N	0.752399	.	.	.	.	.	.	T	0.35375	-0.9791	4	.	.	.	.	8.9918	0.36028	0.5625:0.0:0.3379:0.0995	.	.	.	.	C	373	.	.	R	-	1	0	GALNT9	131247617	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.994000	0.03716	-1.273000	0.02424	-1.585000	0.00851	CGC	G|0.990;A|0.010	0.010	strong		0.642	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		A	132681664	G	A	132681664	2	1	22	1	0	0	0	0	0	0	0	1	6220	1136	40	1		1	GALNT9	12	132681664	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53379	132681664	1170231	7085	12193										
P2RX2	22953	hgsc.bcm.edu	37	chr12	133196596	133196596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcccaggcctgaggacTgggcgctgtgtgccctatta	13	13	0	1	rs7964634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133196596T>C	ENST00000389110.3	+	5	505	c.468T>C	c.(466-468)acT>acC	p.T156T	P2RX2_ENST00000351222.4_Silent_p.T64T|P2RX2_ENST00000348800.5_Silent_p.T156T|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Silent_p.T132T|P2RX2_ENST00000343948.4_Silent_p.T156T|P2RX2_ENST00000352418.4_Silent_p.T84T	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	156					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCCTGAGGACTGGGCGCTGTG	0.692													C|||	3570	0.712859	0.8449	0.7522	5008	,	,		9375	0.7808		0.5616	False		,,,				2504	0.592				p.T156T		Atlas-SNP	.											P2RX2,NS,carcinoma,0,1	P2RX2	49	1	0			c.T468C						PASS	.	C	,,,,,	3486,890		1422,642,124	11	11	11		252,396,468,468,192,468	-6.3	0.2	12	dbSNP_116	11	4981,3583		1468,2045,769	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	P2RX2	NM_012226.3,NM_016318.2,NM_170682.2,NM_170683.2,NM_174872.1,NM_174873.1	,,,,,	2890,2687,893	CC,CT,TT		41.8379,20.3382,34.5672	,,,,,	84/400,132/448,156/472,156/498,64/380,156/405	133196596	8467,4473	2188	4282	6470	SO:0001819	synonymous_variant	22953	exon5			GAGGACTGGGCGC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.468T>C	12.37:g.133196596T>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_170683	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	CCDS31931.1	1536	0.7032967032967034	399	0.8109756097560976	265	0.7320441988950276	449	0.784965034965035	423	0.558047493403694	C	1.836	-0.468560	0.04445	0.796618	0.581621	ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910	.	.	.	4.99	-6.26	0.02033	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.33701	-0.9858	3	.	.	.	-23.5422	1.2958	0.02069	0.1936:0.1398:0.2356:0.431	rs7964634;rs57252153	.	.	.	P	167;142;112	.	.	L	+	2	0	P2RX2	131706669	0.000000	0.05858	0.232000	0.24009	0.080000	0.17528	-8.920000	0.00015	-1.059000	0.03193	-1.163000	0.01768	CTG	T|0.323;C|0.677	0.677	strong		0.692	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			C	133196596	T	C	133196596	2	2	22	1	0	0	0	0	0	0	0	1	11340	1567	55	3		3	P2RX2	12	133196596	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	514932	133196596	655299	7086	12194										
POLE	5426	hgsc.bcm.edu	37	chr12	133201327	133201327	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagcagccactccagggTctccaggaggtacgacatgc	12	14	1	0	rs73481453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133201327T>A	ENST00000320574.5	-	49	6860	c.6817A>T	c.(6817-6819)Acc>Tcc	p.T2273S	POLE_ENST00000535270.1_Missense_Mutation_p.T2246S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2273					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTCCAGGGTCTCCAGGAGG	0.612								DNA polymerases (catalytic subunits)					T|||	25	0.00499201	0.0189	0.0	5008	,	,		18347	0.0		0.0	False		,,,				2504	0.0				p.T2273S		Atlas-SNP	.											.	POLE	416	.	0			c.A6817T						PASS	.	T	SER/THR	62,4344	58.7+/-95.3	2,58,2143	81	82	82		6817	2.4	1	12	dbSNP_130	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	POLE	NM_006231.2	58	2,59,6442	AA,AT,TT		0.0116,1.4072,0.4844	benign	2273/2287	133201327	63,12943	2203	4300	6503	SO:0001583	missense	5426	exon49			CCAGGGTCTCCAG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6817A>T	12.37:g.133201327T>A	ENSP00000322570:p.Thr2273Ser	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	154	72	0.467532	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	T	16.01	3.000426	0.54147	0.014072	1.16E-4	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02944	4.11;4.1;4.11	4.89	2.43	0.29744	.	0.285116	0.38436	N	0.001689	T	0.02193	0.0068	M	0.77103	2.36	0.41149	D	0.98601	B;B	0.12630	0.001;0.006	B;B	0.18263	0.005;0.021	T	0.20405	-1.0276	10	0.59425	D	0.04	.	7.0622	0.25131	0.1316:0.0728:0.0:0.7956	.	2273;483	Q07864;B3KS74	DPOE1_HUMAN;.	S	483;2273;2284;243;2246	ENSP00000322570:T2273S;ENSP00000406383:T2284S;ENSP00000445753:T2246S	ENSP00000322473:T243S	T	-	1	0	POLE	131711400	1.000000	0.71417	0.954000	0.39281	0.840000	0.47671	4.700000	0.61803	0.325000	0.23359	0.459000	0.35465	ACC	T|0.995;A|0.005	0.005	strong		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133201327	T	A	133201327	3	1	22	1	0	0	0	0	1	0	0	0	12196	1667	58	5	47	5	POLE	12	133201327	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4731	133201327	650568	7087	12195										
POLE	5426	hgsc.bcm.edu	37	chr12	133212582	133212582	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgagagaaagaaattgtcaGagaatggaaggtctcctttg	12	5	2	3	rs5744990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133212582G>A	ENST00000320574.5	-	42	5750	c.5707C>T	c.(5707-5709)Ctg>Ttg	p.L1903L	POLE_ENST00000535270.1_Silent_p.L1876L|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1903					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GAAATTGTCAGAGAATGGAAG	0.428								DNA polymerases (catalytic subunits)					A|||	671	0.133986	0.1301	0.2205	5008	,	,		23097	0.1141		0.1382	False		,,,				2504	0.0941				p.L1903L		Atlas-SNP	.											.	POLE	416	.	0			c.C5707T						PASS	.	A		641,3765	766.9+/-413.5	43,555,1605	99	91	94		5707	0.2	0.8	12	dbSNP_114	94	1377,7223	754.4+/-407.5	112,1153,3035	no	coding-synonymous	POLE	NM_006231.2		155,1708,4640	AA,AG,GG		16.0116,14.5483,15.5159		1903/2287	133212582	2018,10988	2203	4300	6503	SO:0001819	synonymous_variant	5426	exon42			TTGTCAGAGAATG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5707C>T	12.37:g.133212582G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	58	32	0.551724	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																			G|0.862;A|0.138	0.138	strong		0.428	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133212582	G	A	133212582	2	1	22	1	0	0	0	0	0	0	0	1	12196	933	33	2		2	POLE	12	133212582	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11255	133212582	639313	7088	12196										
POLE	5426	hgsc.bcm.edu	37	chr12	133219831	133219831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtccagcacaaagacggaTgccctgcgctgtgaggggat	15	10	0	2	rs5744944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133219831T>C	ENST00000320574.5	-	35	4573	c.4530A>G	c.(4528-4530)gcA>gcG	p.A1510A	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.A1483A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1510					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAAGACGGATGCCCTGCGCT	0.602								DNA polymerases (catalytic subunits)					C|||	3031	0.605232	0.761	0.5317	5008	,	,		20994	0.6736		0.4304	False		,,,				2504	0.5562				p.A1510A		Atlas-SNP	.											.	POLE	416	.	0			c.A4530G						PASS	.	C		3091,1315	441.2+/-346.3	1076,939,188	101	91	94		4530	-11.9	0.1	12	dbSNP_114	94	3703,4897	619.4+/-396.9	797,2109,1394	no	coding-synonymous	POLE	NM_006231.2		1873,3048,1582	CC,CT,TT		43.0581,29.8457,47.7626		1510/2287	133219831	6794,6212	2203	4300	6503	SO:0001819	synonymous_variant	5426	exon35			GACGGATGCCCTG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4530A>G	12.37:g.133219831T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	91	39	0.428571	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																			T|0.448;C|0.552	0.552	strong		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		C	133219831	T	C	133219831	2	2	22	1	0	0	0	0	0	0	0	1	12196	1451	51	2		2	POLE	12	133219831	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7249	133219831	632064	7089	12197										
POLE	5426	hgsc.bcm.edu	37	chr12	133236000	133236000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctttgctgtgctgatggaCgtagacttctgctccccgta	11	12	1	2	rs5744857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133236000C>T	ENST00000320574.5	-	26	3199	c.3156G>A	c.(3154-3156)acG>acA	p.T1052T	POLE_ENST00000535270.1_Silent_p.T1025T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1052					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGCTGATGGACGTAGACTTCT	0.567								DNA polymerases (catalytic subunits)					T|||	3032	0.605431	0.7602	0.5317	5008	,	,		19097	0.6736		0.4314	False		,,,				2504	0.5573				p.T1052T		Atlas-SNP	.											POLE_ENST00000320574,caecum,carcinoma,-1,2	POLE	416	2	0			c.G3156A						PASS	.	T		3091,1315	441.8+/-346.5	1076,939,188	90	81	84		3156	-11.7	0	12	dbSNP_114	84	3704,4896	619.9+/-397.0	798,2108,1394	no	coding-synonymous	POLE	NM_006231.2		1874,3047,1582	TT,TC,CC		43.0698,29.8457,47.7549		1052/2287	133236000	6795,6211	2203	4300	6503	SO:0001819	synonymous_variant	5426	exon26			GATGGACGTAGAC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3156G>A	12.37:g.133236000C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	136	60	0.441176	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																			C|0.443;T|0.557	0.557	strong		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133236000	C	T	133236000	2	4	22	1	0	0	0	0	0	0	0	1	12196	523	19	1		1	POLE	12	133236000	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16169	133236000	615895	7090	12198										
ANKLE2	23141	hgsc.bcm.edu	37	chr12	133331459	133331459	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttcagaaaaaccagcctGatcagttgggttcccttcag	9	11	4	2	rs7968520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133331459G>C	ENST00000357997.5	-	2	531	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	ANKLE2_ENST00000337516.5_Missense_Mutation_p.Q148E|ANKLE2_ENST00000539605.1_Missense_Mutation_p.Q86E	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	148			Q -> E (in dbSNP:rs7968520).		mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AAACCAGCCTGATCAGTTGGG	0.527													G|||	514	0.102636	0.2481	0.1859	5008	,	,		17910	0.0		0.0487	False		,,,				2504	0.0082				p.Q148E		Atlas-SNP	.											.	ANKLE2	76	.	0			c.C442G						PASS	.	G	GLU/GLN	830,2986		109,612,1187	66	67	67		442	4.5	0	12	dbSNP_116	67	521,7735		16,489,3623	yes	missense	ANKLE2	NM_015114.1	29	125,1101,4810	CC,CG,GG		6.3106,21.7505,11.1912	benign	148/939	133331459	1351,10721	1908	4128	6036	SO:0001583	missense	23141	exon2			CAGCCTGATCAGT	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.442C>G	12.37:g.133331459G>C	ENSP00000350686:p.Gln148Glu	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	190	0.08699633699633699	107	0.21747967479674796	51	0.1408839779005525	0	0.0	32	0.04221635883905013	G	9.223	1.033945	0.19590	0.217505	0.063106	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.29142	2.02;2.0;1.58	5.38	4.48	0.54585	.	0.880964	0.10284	N	0.693133	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B;P	0.40875	0.174;0.731	B;B	0.31442	0.069;0.13	T	0.17107	-1.0380	9	0.12103	T	0.63	-1.4383	12.8359	0.57773	0.0771:0.0:0.9229:0.0	rs7968520;rs7968520	148;148	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	E	86;148;148	ENSP00000446268:Q86E;ENSP00000350686:Q148E;ENSP00000337651:Q148E	ENSP00000337651:Q148E	Q	-	1	0	ANKLE2	131841532	0.000000	0.05858	0.015000	0.15790	0.035000	0.12851	0.675000	0.25232	2.547000	0.85894	0.650000	0.86243	CAG	G|0.917;C|0.083	0.083	strong		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			C	133331459	G	C	133331459	3	2	22	1	0	0	0	0	1	0	0	0	633	1299	45	4	2422	4	ANKLE2	12	133331459	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95459	133331459	520436	7091	12199										
GOLGA3	2802	hgsc.bcm.edu	37	chr12	133358984	133358984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggactgaccgaggcccgtAagcttccctttctcgtgctc	10	14	1	1	rs76963006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133358984A>G	ENST00000450791.2	-	16	3546	c.3363T>C	c.(3361-3363)ctT>ctC	p.L1121L	GOLGA3_ENST00000456883.2_Silent_p.L1121L|GOLGA3_ENST00000204726.3_Silent_p.L1121L			Q08378	GOGA3_HUMAN	golgin A3	1121					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGAGGCCCGTAAGCTTCCCTT	0.498													A|||	41	0.0081869	0.0303	0.0014	5008	,	,		19000	0.0		0.0	False		,,,				2504	0.0				p.L1121L		Atlas-SNP	.											.	GOLGA3	234	.	0			c.T3363C						PASS	.	A		117,4289	88.7+/-127.4	1,115,2087	216	201	207		3363	-8.6	0	12	dbSNP_132	207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOLGA3	NM_005895.3		1,116,6386	GG,GA,AA		0.0116,2.6555,0.9073		1121/1499	133358984	118,12888	2203	4300	6503	SO:0001819	synonymous_variant	2802	exon17			GCCCGTAAGCTTC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3363T>C	12.37:g.133358984A>G		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	201	107	0.532338	NM_005895	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	CCDS9281.1																																																																																			A|0.990;G|0.010	0.010	strong		0.498	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		G	133358984	A	G	133358984	2	3	22	1	0	0	0	0	0	0	0	1	6554	349	13	2		2	GOLGA3	12	133358984	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27525	133358984	492911	7092	12200										
GOLGA3	2802	hgsc.bcm.edu	37	chr12	133398638	133398638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccgggggcttcagtgggGcctcggggagagacgagggg	23	9	1	1	rs141852501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133398638G>A	ENST00000450791.2	-	1	260	c.77C>T	c.(76-78)gCc>gTc	p.A26V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A26V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A26V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A26V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A26V			Q08378	GOGA3_HUMAN	golgin A3	26	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTCAGTGGGGCCTCGGGGAG	0.647													G|||	8	0.00159744	0.0061	0.0	5008	,	,		14431	0.0		0.0	False		,,,				2504	0.0				p.A26V		Atlas-SNP	.											.	GOLGA3	234	.	0			c.C77T						PASS	.	G	VAL/ALA,VAL/ALA	28,4378	32.6+/-62.9	0,28,2175	44	47	46		77,77	-3.7	0	12	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GOLGA3	NM_001172557.1,NM_005895.3	64,64	0,29,6474	AA,AG,GG		0.0116,0.6355,0.223	benign,benign	26/1135,26/1499	133398638	29,12977	2203	4300	6503	SO:0001583	missense	2802	exon2			AGTGGGGCCTCGG	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.77C>T	12.37:g.133398638G>A	ENSP00000410378:p.Ala26Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	111	58	0.522523	NM_001172557	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	11.20	1.568083	0.28003	0.006355	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32988	1.86;1.86;1.86;1.43;1.43	5.4	-3.7	0.04437	.	1.125330	0.06702	N	0.771525	T	0.16896	0.0406	L	0.44542	1.39	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.33574	-0.9863	10	0.41790	T	0.15	.	7.4989	0.27505	0.069:0.4444:0.3435:0.1431	.	26;26;26	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	26	ENSP00000204726:A26V;ENSP00000410378:A26V;ENSP00000409303:A26V;ENSP00000442143:A26V;ENSP00000442603:A26V	ENSP00000204726:A26V	A	-	2	0	GOLGA3	131908711	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.762000	0.04745	-0.565000	0.06061	-2.362000	0.00238	GCC	G|0.997;A|0.003	0.003	strong		0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133398638	G	A	133398638	3	1	22	1	0	0	0	0	1	0	0	0	6554	1203	42	2	4649	2	GOLGA3	12	133398638	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39654	133398638	453257	7093	12201										
ZNF10	7556	hgsc.bcm.edu	37	chr12	133732512	133732512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaacattcaccttattcAgtttgcaagaactcacacag	4	11	4	1	rs11147259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr12:133732512A>G	ENST00000248211.6	+	5	902	c.680A>G	c.(679-681)cAg>cGg	p.Q227R	ZNF10_ENST00000426665.2_Missense_Mutation_p.Q227R|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	227			Q -> R (in dbSNP:rs11147259).	Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CACCTTATTCAGTTTGCAAGA	0.358													A|||	337	0.0672923	0.1944	0.0303	5008	,	,		22500	0.002		0.0398	False		,,,				2504	0.0174				p.Q227R		Atlas-SNP	.											ZNF10,bladder,carcinoma,+1,1	ZNF10	58	1	0			c.A680G						PASS	.	A	ARG/GLN	711,3695	295.6+/-283.7	54,603,1546	111	102	105		680	4.2	0.9	12	dbSNP_120	105	366,8234	121.8+/-180.9	6,354,3940	yes	missense	ZNF10	NM_015394.4	43	60,957,5486	GG,GA,AA		4.2558,16.1371,8.2808	possibly-damaging	227/574	133732512	1077,11929	2203	4300	6503	SO:0001583	missense	7556	exon5			TTATTCAGTTTGC	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.680A>G	12.37:g.133732512A>G	ENSP00000248211:p.Gln227Arg	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	121	50	0.413223	NM_015394	B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	CCDS9283.1	137	0.06272893772893773	98	0.1991869918699187	8	0.022099447513812154	0	0.0	31	0.040897097625329816	A	6.062	0.379830	0.11466	0.161371	0.042558	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.59364	0.27;0.27;4.7	4.22	4.22	0.49857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36234	N	0.002714	T	0.00039	0.0001	N	0.05574	-0.02	0.09310	P	0.99999835466	B	0.30326	0.276	B	0.27796	0.083	T	0.09930	-1.0652	8	.	.	.	.	9.4701	0.38837	0.8219:0.1781:0.0:0.0	rs11147259;rs58328991;rs11147259	227	P21506	ZNF10_HUMAN	R	227;227;185	ENSP00000248211:Q227R;ENSP00000393814:Q227R;ENSP00000437397:Q185R	.	Q	+	2	0	ZNF10	132242585	0.000000	0.05858	0.916000	0.36221	0.450000	0.32258	0.710000	0.25748	1.896000	0.54893	0.533000	0.62120	CAG	A|0.918;G|0.082	0.082	strong		0.358	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		G	133732512	A	G	133732512	3	3	22	1	0	0	0	0	1	0	0	0	17709	188	7	3	694	3	ZNF10	12	133732512	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	333874	133732512	119383	7094	12202										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19753479	19753479	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccaggacccgagcacctAccgaccacagtgggctccag	10	17	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:19753479A>G	ENST00000400113.3	-	2	331		c.e2+1		RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGAGCACCTACCGACCACAG	0.587																																					.		Atlas-SNP	.											TUBA3C,NS,carcinoma,-2,1	TUBA3C	166	1	0			c.226+2T>C						scavenged	.						96	84	88					13																	19753479		2203	4300	6503	SO:0001630	splice_region_variant	7278	exon3			GCACCTACCGACC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.226+1T>C	13.37:g.19753479A>G		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	258	3	0.0116279	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Splice_Site	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914994	0.17907	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8515	0.24018	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBA3C	18651479	1.000000	0.71417	0.902000	0.35471	0.345000	0.29048	7.649000	0.83500	0.885000	0.36088	0.163000	0.16589	.	.	.	none		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	Intron	G	19753479	A	G	19753479	5	3	22	1	0	0	0	0	0	0	1	0	16743	405	14	2	1140	2	TUBA3C	13	19753479	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10		19753479	95416399	7095	12203										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	362	2	0.00552486		WXS	Illumina HiSeq	Phase_I	377	4	0.0106101	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	22	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	303200	20056679	95113199	7096	12204										
CRYL1	51084	hgsc.bcm.edu	37	chr13	21086599	21086599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctgatgttttccagggcGttccttatctgctgttgctc	9	12	1	1	rs7139733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:21086599G>A	ENST00000298248.7	-	2	194	c.132C>T	c.(130-132)aaC>aaT	p.N44N	CRYL1_ENST00000382812.1_Silent_p.N22N	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	44					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TTTCCAGGGCGTTCCTTATCT	0.527													G|||	557	0.111222	0.1483	0.1052	5008	,	,		17005	0.0198		0.1799	False		,,,				2504	0.089				p.N44N		Atlas-SNP	.											.	CRYL1	28	.	0			c.C132T						PASS	.	G		591,3201		44,503,1349	73	71	71		132	-10.7	0	13	dbSNP_116	71	1199,7047		97,1005,3021	no	coding-synonymous	CRYL1	NM_015974.2		141,1508,4370	AA,AG,GG		14.5404,15.5854,14.8696		44/320	21086599	1790,10248	1896	4123	6019	SO:0001819	synonymous_variant	51084	exon2			CAGGGCGTTCCTT	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.132C>T	13.37:g.21086599G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	73	73	1	NM_015974	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	ENST00000298248.7	37	CCDS41871.1																																																																																			G|0.896;A|0.104	0.104	strong		0.527	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		A	21086599	G	A	21086599	2	1	22	1	0	0	0	0	0	0	0	1	3920	1136	40	1		1	CRYL1	13	21086599	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1029920	21086599	94083279	7097	12205										
XPO4	64328	hgsc.bcm.edu	37	chr13	21374333	21374333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtgacaaggagctgcacAgtgtcatttgcaaggtcctg	12	8	1	1	rs9579954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:21374333A>G	ENST00000255305.6	-	15	2180	c.2109T>C	c.(2107-2109)acT>acC	p.T703T	XPO4_ENST00000400602.2_Silent_p.T703T			Q9C0E2	XPO4_HUMAN	exportin 4	703					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAGCTGCACAGTGTCATTTG	0.458													A|||	309	0.0617013	0.0242	0.0403	5008	,	,		19337	0.0		0.1382	False		,,,				2504	0.1125				p.T703T		Atlas-SNP	.											.	XPO4	153	.	0			c.T2109C						PASS	.	A		171,3835		4,163,1836	111	108	109		2109	-3.1	0.9	13	dbSNP_119	109	1129,7213		71,987,3113	no	coding-synonymous	XPO4	NM_022459.4		75,1150,4949	GG,GA,AA		13.5339,4.2686,10.528		703/1152	21374333	1300,11048	2003	4171	6174	SO:0001819	synonymous_variant	64328	exon15			CTGCACAGTGTCA	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2109T>C	13.37:g.21374333A>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	175	89	0.508571	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	CCDS41872.1																																																																																			A|0.912;G|0.088	0.088	strong		0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		G	21374333	A	G	21374333	2	3	22	1	0	0	0	0	0	0	0	1	17443	175	7	3		3	XPO4	13	21374333	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	287734	21374333	93795545	7098	12206										
ZDHHC20	253832	hgsc.bcm.edu	37	chr13	21987823	21987823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtggtatagataggtaaaGctcttgctgctcttctcaaa	9	7	3	1	rs151151710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:21987823G>A	ENST00000400590.3	-	4	536	c.338C>T	c.(337-339)gCt>gTt	p.A113V	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.A113V|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.A50V|ZDHHC20_ENST00000422251.1_Missense_Mutation_p.A113V|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.A113V|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.A113V			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	113					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GATAGGTAAAGCTCTTGCTGC	0.313													G|||	22	0.00439297	0.0159	0.0014	5008	,	,		14776	0.0		0.0	False		,,,				2504	0.0				p.A113V		Atlas-SNP	.											ZDHHC20_ENST00000382466,NS,carcinoma,0,2	ZDHHC20	36	2	0			c.C338T						PASS	.	G	VAL/ALA	66,3544		0,66,1739	117	101	106		338	3.1	1	13	dbSNP_134	106	0,8150		0,0,4075	yes	missense	ZDHHC20	NM_153251.3	64	0,66,5814	AA,AG,GG		0.0,1.8283,0.5612	benign	113/355	21987823	66,11694	1805	4075	5880	SO:0001583	missense	253832	exon4			GGTAAAGCTCTTG	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.338C>T	13.37:g.21987823G>A	ENSP00000383433:p.Ala113Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_153251	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37		13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	G	10.49	1.365289	0.24684	0.018283	0.0	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724;ENST00000422251	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.59	3.12	0.35913	.	0.330632	0.39834	N	0.001258	T	0.06325	0.0163	N	0.10916	0.065	0.20764	N	0.999855	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.001	T	0.20174	-1.0283	10	0.44086	T	0.13	-10.0193	8.0652	0.30657	0.125:0.0:0.3373:0.5376	.	50;113	B4DRN8;Q5W0Z9-3	.;.	V	113;113;113;50;113;113	ENSP00000383433:A113V;ENSP00000313583:A113V;ENSP00000371905:A113V;ENSP00000443236:A50V;ENSP00000401232:A113V	ENSP00000313583:A113V	A	-	2	0	ZDHHC20	20885823	0.999000	0.42202	0.989000	0.46669	0.681000	0.39784	1.392000	0.34486	0.017000	0.15025	-1.579000	0.00862	GCT	G|0.994;A|0.006	0.006	strong		0.313	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		A	21987823	G	A	21987823	3	1	22	1	0	0	0	0	1	0	0	0	17608	971	34	2	762	2	ZDHHC20	13	21987823	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	613490	21987823	93182055	7099	12207										
SGCG	6445	hgsc.bcm.edu	37	chr13	23824783	23824783	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctaggactcatctctgctTctacaatcaacccagaatgt	5	12	5	1	rs1800351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23824783T>G	ENST00000218867.3	+	4	436	c.312T>G	c.(310-312)ctT>ctG	p.L104L	SGCG_ENST00000545013.1_Silent_p.L104L|SGCG_ENST00000537476.1_Silent_p.L104L	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	104					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CATCTCTGCTTCTACAATCAA	0.368													T|||	2628	0.52476	0.7035	0.4236	5008	,	,		15922	0.7014		0.333	False		,,,				2504	0.3701				p.L104L		Atlas-SNP	.											.	SGCG	64	.	0			c.T312G						PASS	.	T		2958,1448	681.6+/-404.0	996,966,241	95	83	87		312	0.1	0.8	13	dbSNP_89	87	3170,5430	480.1+/-370.3	584,2002,1714	no	coding-synonymous	SGCG	NM_000231.2		1580,2968,1955	GG,GT,TT		36.8605,32.8643,47.1167		104/292	23824783	6128,6878	2203	4300	6503	SO:0001819	synonymous_variant	6445	exon4			TCTGCTTCTACAA	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.312T>G	13.37:g.23824783T>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_000231	Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	CCDS9299.1																																																																																			T|0.510;G|0.490	0.490	strong		0.368	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		G	23824783	T	G	23824783	2	3	22	1	0	0	0	0	0	0	0	1	14203	1770	62	5		5	SGCG	13	23824783	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1836960	23824783	91345095	7100	12208										
SGCG	6445	hgsc.bcm.edu	37	chr13	23853547	23853547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttcagatcaactccaaCgacggcaagccactatttac	6	13	2	1	rs35628352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23853547C>T	ENST00000218867.3	+	5	559	c.435C>T	c.(433-435)aaC>aaT	p.N145N	SGCG_ENST00000545013.1_Silent_p.N145N|SGCG_ENST00000537476.1_Silent_p.N145N	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	145					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TCAACTCCAACGACGGCAAGC	0.383													C|||	47	0.00938498	0.031	0.0072	5008	,	,		17239	0.0		0.001	False		,,,				2504	0.0				p.N145N		Atlas-SNP	.											.	SGCG	64	.	0			c.C435T						PASS	.	C		130,4276	93.9+/-132.6	2,126,2075	98	90	93		435	-3.5	0.4	13	dbSNP_126	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SGCG	NM_000231.2		2,127,6374	TT,TC,CC		0.0116,2.9505,1.0072		145/292	23853547	131,12875	2203	4300	6503	SO:0001819	synonymous_variant	6445	exon5			CTCCAACGACGGC	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.435C>T	13.37:g.23853547C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	109	59	0.541284	NM_000231	Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	CCDS9299.1																																																																																			C|0.991;T|0.009	0.009	strong		0.383	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		T	23853547	C	T	23853547	2	4	22	1	0	0	0	0	0	0	0	1	14203	535	19	1		1	SGCG	13	23853547	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28764	23853547	91316331	7101	12209										
SACS	26278	hgsc.bcm.edu	37	chr13	23905481	23905481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtacccaacatattctccCgggtaaaaaacattcattgg	7	10	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23905481C>T	ENST00000382292.3	-	9	12807	c.12534G>A	c.(12532-12534)ccG>ccA	p.P4178P	SACS_ENST00000402364.1_Silent_p.P3428P|SACS_ENST00000382298.3_Silent_p.P4178P			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4178					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATATTCTCCCGGGTAAAAAA	0.413																																					p.P4178P		Atlas-SNP	.											.	SACS	871	.	0			c.G12534A						PASS	.						108	113	111					13																	23905481		2203	4300	6503	SO:0001819	synonymous_variant	26278	exon10			TTCTCCCGGGTAA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12534G>A	13.37:g.23905481C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	59	0.561905	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			.	.	none		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23905481	C	T	23905481	2	4	22	1	0	0	0	0	0	0	0	1	13804	639	23	1		1	SACS	13	23905481	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51934	23905481	91264397	7102	12210										
SACS	26278	hgsc.bcm.edu	37	chr13	23914286	23914286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctggaattgatagtagtcTtcatcactaaaggtttttga	9	5	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23914286T>C	ENST00000382292.3	-	9	4002	c.3729A>G	c.(3727-3729)gaA>gaG	p.E1243E	SACS_ENST00000402364.1_Silent_p.E493E|SACS_ENST00000382298.3_Silent_p.E1243E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1243					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GATAGTAGTCTTCATCACTAA	0.323																																					p.E1243E		Atlas-SNP	.											.	SACS	871	.	0			c.A3729G						PASS	.						44	43	43					13																	23914286		2202	4300	6502	SO:0001819	synonymous_variant	26278	exon10			GTAGTCTTCATCA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3729A>G	13.37:g.23914286T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	121	62	0.512397	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			.	.	none		0.323	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23914286	T	C	23914286	2	2	22	1	0	0	0	0	0	0	0	1	13804	1606	56	3		3	SACS	13	23914286	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8805	23914286	91255592	7103	12211										
SACS	26278	hgsc.bcm.edu	37	chr13	23915089	23915089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaacatgtttgccagacGaatagtagcttcatcactac	6	10	3	1	rs139993038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23915089G>T	ENST00000382292.3	-	9	3199	c.2926C>A	c.(2926-2928)Cgt>Agt	p.R976S	SACS_ENST00000402364.1_Missense_Mutation_p.R226S|SACS_ENST00000382298.3_Missense_Mutation_p.R976S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGCCAGACGAATAGTAGCT	0.348													G|||	8	0.00159744	0.0061	0.0	5008	,	,		20828	0.0		0.0	False		,,,				2504	0.0				p.R976S		Atlas-SNP	.											SACS_ENST00000382298,NS,carcinoma,0,2	SACS	871	2	0			c.C2926A						scavenged	.	G	SER/ARG	27,4379	33.5+/-64.1	0,27,2176	71	70	71		2926	6.1	1	13	dbSNP_134	71	0,8600		0,0,4300	no	missense	SACS	NM_014363.4	110	0,27,6476	TT,TG,GG		0.0,0.6128,0.2076	probably-damaging	976/4580	23915089	27,12979	2203	4300	6503	SO:0001583	missense	26278	exon10			CCAGACGAATAGT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2926C>A	13.37:g.23915089G>T	ENSP00000371729:p.Arg976Ser	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	183	71	0.387978	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	32	5.112212	0.94339	0.006128	0.0	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.14;-2.3;-2.14	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	L	0.34521	1.04	0.80722	D	1	D	0.53312	0.959	P	0.47528	0.549	D	0.85013	0.0907	10	0.56958	D	0.05	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	S	976;226;976	ENSP00000371729:R976S;ENSP00000385844:R226S;ENSP00000371735:R976S	ENSP00000371729:R976S	R	-	1	0	SACS	22813089	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.878000	0.98634	0.650000	0.86243	CGT	A|0.000;G|0.999;T|0.001	0.001	strong		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23915089	G	T	23915089	3	4	22	1	0	0	0	0	1	0	0	0	13804	1058	37	4	10817	4	SACS	13	23915089	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	803	23915089	91254789	7104	12212										
SACS	26278	hgsc.bcm.edu	37	chr13	23929189	23929189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacaaggggaaatcagagCtcttttccatctccagacgt	9	11	3	3	rs190617851		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:23929189C>G	ENST00000382292.3	-	7	1835	c.1562G>C	c.(1561-1563)aGc>aCc	p.S521T	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.S521T|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	521					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAATCAGAGCTCTTTTCCAT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20393	0.0		0.0	False		,,,				2504	0.0				p.S521T		Atlas-SNP	.											.	SACS	871	.	0			c.G1562C						PASS	.	C	THR/SER	1,4405	2.1+/-5.4	0,1,2202	77	85	82		1562	2.3	0	13		82	0,8600		0,0,4300	no	missense	SACS	NM_014363.4	58	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	521/4580	23929189	1,13005	2203	4300	6503	SO:0001583	missense	26278	exon8			TCAGAGCTCTTTT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1562G>C	13.37:g.23929189C>G	ENSP00000371729:p.Ser521Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.48|12.48	1.950654|1.950654	0.34377|0.34377	2.27E-4|2.27E-4	0.0|0.0	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|T;T;T	.|0.21191	.|2.02;2.02;2.02	5.48|5.48	2.34|2.34	0.29019|0.29019	.|.	.|0.444341	.|0.27384	.|N	.|0.019604	T|T	0.11495|0.11495	0.0280|0.0280	L|L	0.34521|0.34521	1.04|1.04	0.26264|0.26264	N|N	0.978528|0.978528	.|B;B;B	.|0.31625	.|0.332;0.332;0.0	.|B;B;B	.|0.30572	.|0.075;0.117;0.002	T|T	0.24190|0.24190	-1.0167|-1.0167	5|10	.|0.14656	.|T	.|0.56	.|.	3.6068|3.6068	0.08045|0.08045	0.0:0.2101:0.4786:0.3113|0.0:0.2101:0.4786:0.3113	.|.	.|420;308;521	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	D|T	420|521;521;145	.|ENSP00000371729:S521T;ENSP00000371735:S521T;ENSP00000390925:S145T	.|ENSP00000371729:S521T	E|S	-|-	3|2	2|0	SACS|SACS	22827189|22827189	0.968000|0.968000	0.33430|0.33430	0.001000|0.001000	0.08648|0.08648	0.923000|0.923000	0.55619|0.55619	1.379000|1.379000	0.34340|0.34340	0.259000|0.259000	0.21709|0.21709	0.561000|0.561000	0.74099|0.74099	GAG|AGC	C|1.000;G|0.000	0.000	strong		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23929189	C	G	23929189	3	3	22	1	0	0	0	0	1	0	0	0	13804	797	28	4	12189	4	SACS	13	23929189	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14100	23929189	91240689	7105	12213										
TNFRSF19	55504	hgsc.bcm.edu	37	chr13	24242166	24242166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtgaggaggcctgcagcCccaacccggcgactcttggt	14	14	1	1	rs35041805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:24242166C>T	ENST00000382258.4	+	8	988	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P262S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P130S|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P262S	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	262					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGCCTGCAGCCCCAACCCGGC	0.562													C|||	88	0.0175719	0.0393	0.0216	5008	,	,		15996	0.0		0.0179	False		,,,				2504	0.0031				p.P262S		Atlas-SNP	.											.	TNFRSF19	52	.	0			c.C784T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	155,4251	103.0+/-141.5	5,145,2053	54	48	50		784,388,784,784	-11.2	0	13	dbSNP_126	50	132,8468	63.5+/-125.6	2,128,4170	yes	missense,missense,missense,missense	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	74,74,74,74	7,273,6223	TT,TC,CC		1.5349,3.5179,2.2067	benign,benign,benign,benign	262/418,130/286,262/424,262/418	24242166	287,12719	2203	4300	6503	SO:0001583	missense	55504	exon8			TGCAGCCCCAACC	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.784C>T	13.37:g.24242166C>T	ENSP00000371693:p.Pro262Ser	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	139	79	0.568345	NM_018647	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	CCDS9302.1	40	0.018315018315018316	27	0.054878048780487805	5	0.013812154696132596	0	0.0	8	0.010554089709762533	C	1.414	-0.574621	0.03882	0.035179	0.015349	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.75477	-0.94;1.64;-0.94;-0.94	5.6	-11.2	0.00127	.	1.541490	0.03240	N	0.180303	T	0.07593	0.0191	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.10870	-1.0611	10	0.07482	T	0.82	1.7599	4.075	0.09899	0.1155:0.3711:0.3077:0.2057	rs35041805	130;262;262	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	S	262;130;262;262	ENSP00000248484:P262S;ENSP00000385408:P130S;ENSP00000371693:P262S;ENSP00000371698:P262S	ENSP00000248484:P262S	P	+	1	0	TNFRSF19	23140166	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.593000	0.00897	-4.787000	0.00032	-0.868000	0.02995	CCC	C|0.981;T|0.019	0.019	strong		0.562	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		T	24242166	C	T	24242166	3	4	22	1	0	0	0	0	1	0	0	0	16289	623	22	2	810	2	TNFRSF19	13	24242166	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	312977	24242166	90927712	7106	12214										
MIPEP	4285	hgsc.bcm.edu	37	chr13	24463414	24463414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcccggcggggcggcagagCtgctgctctggctcccaagc	16	16	1	1	rs112735196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:24463414C>A	ENST00000382172.3	-	1	144	c.46G>T	c.(46-48)Gct>Tct	p.A16S	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	16					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ggcggcAGAGCTGCTGCTCTG	0.692													C|||	24	0.00479233	0.0182	0.0	5008	,	,		11162	0.0		0.0	False		,,,				2504	0.0				p.A16S		Atlas-SNP	.											.	MIPEP	53	.	0			c.G46T						PASS	.						2	3	3					13																	24463414		1592	3189	4781	SO:0001583	missense	4285	exon1			GCAGAGCTGCTGC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.46G>T	13.37:g.24463414C>A	ENSP00000371607:p.Ala16Ser	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	18	17	0.944444	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	c	11.93	1.786749	0.31593	.	.	ENSG00000027001	ENST00000382172	T	0.10005	2.92	4.11	2.28	0.28536	.	0.834312	0.10422	N	0.676614	T	0.04363	0.0120	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.17098	0.017	T	0.26849	-1.0091	10	0.59425	D	0.04	-18.1677	7.5781	0.27948	0.0:0.7411:0.1649:0.094	.	16	Q99797	MIPEP_HUMAN	S	16	ENSP00000371607:A16S	ENSP00000371607:A16S	A	-	1	0	MIPEP	23361414	0.002000	0.14202	0.108000	0.21378	0.376000	0.30014	0.683000	0.25349	0.920000	0.36970	0.491000	0.48974	GCT	C|0.994;A|0.006	0.006	strong		0.692	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			A	24463414	C	A	24463414	3	1	22	1	0	0	0	0	1	0	0	0	9592	797	28	4	2171	4	MIPEP	13	24463414	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	221248	24463414	90706464	7107	12215										
SPATA13	221178	hgsc.bcm.edu	37	chr13	24797333	24797333	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgggtgcccaccccgagcGgccccactccatggtcctgg	13	18	0	0	rs1220545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:24797333G>C	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R89P|SPATA13_ENST00000382108.3_Missense_Mutation_p.R89P|SPATA13_ENST00000424834.2_Missense_Mutation_p.R89P	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CACCCCGAGCGGCCCCACTCC	0.607													.|||	15	0.00299521	0.0113	0.0	5008	,	,		18093	0.0		0.0	False		,,,				2504	0.0				p.R89P		Atlas-SNP	.											.	SPATA13	92	.	0			c.G266C						PASS	.	G	PRO/ARG,	25,1359		0,25,667	29	32	31		266,	5.2	1	13	dbSNP_87	31	0,3182		0,0,1591	no	missense,intron	SPATA13	NM_001166271.1,NM_153023.2	103,	0,25,2258	CC,CG,GG		0.0,1.8064,0.5475	benign,	89/1278,	24797333	25,4541	692	1591	2283	SO:0001627	intron_variant	221178	exon2			CCGAGCGGCCCCA	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26282G>C	13.37:g.24797333G>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	79	50	0.632911	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.69	2.610495	0.46527	0.018064	0.0	ENSG00000182957	ENST00000382108	T	0.81330	-1.48	5.25	5.25	0.73442	.	0.000000	0.39475	U	0.001355	T	0.75280	0.3828	L	0.46157	1.445	0.80722	D	1	.	.	.	.	.	.	T	0.82309	-0.0521	8	0.87932	D	0	.	18.2627	0.90041	0.0:0.0:1.0:0.0	rs1220545	.	.	.	P	89	ENSP00000371542:R89P	ENSP00000371542:R89P	R	+	2	0	SPATA13	23695333	1.000000	0.71417	0.995000	0.50966	0.021000	0.10359	5.152000	0.64882	2.644000	0.89710	0.478000	0.44815	CGG	G|0.997;C|0.003	0.003	strong		0.607	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		C	24797333	G	C	24797333	1	2	22	0	1	0	0	0	0	0	0	0	14999	1116	39	4		4	SPATA13	13	24797333	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	333919	24797333	90372545	7108	12216										
SPATA13	221178	hgsc.bcm.edu	37	chr13	24797913	24797913	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctcaggacggcccatgaCgcacgggtaccacagaggac	13	14	1	2	rs1220546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:24797913C>T	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Silent_p.D282D|SPATA13_ENST00000382108.3_Silent_p.D282D|SPATA13_ENST00000424834.2_Silent_p.D282D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D282D(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CGGCCCATGACGCACGGGTAC	0.567													C|||	1315	0.26258	0.1097	0.196	5008	,	,		19459	0.4405		0.2942	False		,,,				2504	0.3006				p.D282D		Atlas-SNP	.											.	SPATA13	92	.	2	Substitution - coding silent(2)	endometrium(2)	c.C846T						PASS	.	C	,	205,1179		17,171,504	72	65	67		846,	-9.2	0	13	dbSNP_87	67	988,2194		154,680,757	no	coding-synonymous,intron	SPATA13	NM_001166271.1,NM_153023.2	,	171,851,1261	TT,TC,CC		31.0497,14.8121,26.1279	,	282/1278,	24797913	1193,3373	692	1591	2283	SO:0001627	intron_variant	221178	exon2			CCATGACGCACGG	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25702C>T	13.37:g.24797913C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	CCDS9305.1	610	0.2793040293040293	64	0.13008130081300814	76	0.20994475138121546	240	0.4195804195804196	230	0.3034300791556728	C	3.895	-0.023136	0.07634	0.148121	0.310497	ENSG00000182957	ENST00000424834	.	.	.	4.62	-9.24	0.00669	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.21484	-1.0244	3	.	.	.	.	2.1055	0.03690	0.4112:0.2767:0.1656:0.1465	rs1220546;rs17365668;rs56504932;rs60383945;rs1220546	.	.	.	C	320	.	.	R	+	1	0	SPATA13	23695913	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.827000	0.00746	-3.430000	0.00165	-1.555000	0.00892	CGC	C|0.720;T|0.280	0.280	strong		0.567	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		T	24797913	C	T	24797913	1	4	22	0	1	0	0	0	0	0	0	0	14999	535	19	1		1	SPATA13	13	24797913	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	580	24797913	90371965	7109	12217										
C1QTNF9	338872	hgsc.bcm.edu	37	chr13	24890157	24890157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccatgaggatctggtggCttctgcttgccattgaaatc	11	9	2	2	rs1974332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:24890157C>T	ENST00000382071.2	+	2	101	c.16C>T	c.(16-18)Ctt>Ttt	p.L6F	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.L6F|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	6			L -> F (in dbSNP:rs1974332).			collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GATCTGGTGGCTTCTGCTTGC	0.522													T|||	1322	0.263978	0.3585	0.17	5008	,	,		21412	0.2748		0.1372	False		,,,				2504	0.3221				p.L6F		Atlas-SNP	.											.	C1QTNF9	22	.	0			c.C16T						PASS	.	T	PHE/LEU	1458,2948	680.4+/-403.8	236,986,981	88	83	85		16	0.8	0.6	13	dbSNP_92	85	1358,7242	755.2+/-407.5	115,1128,3057	yes	missense	C1QTNF9	NM_178540.3	22	351,2114,4038	TT,TC,CC		15.7907,33.0912,21.6515	possibly-damaging	6/334	24890157	2816,10190	2203	4300	6503	SO:0001583	missense	338872	exon2			TGGTGGCTTCTGC	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.16C>T	13.37:g.24890157C>T	ENSP00000371503:p.Leu6Phe	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	247	113	0.45749	NM_178540	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	527	0.2413003663003663	177	0.3597560975609756	69	0.19060773480662985	175	0.30594405594405594	106	0.13984168865435356	t	3.336	-0.135678	0.06711	0.330912	0.157907	ENSG00000240654	ENST00000382071;ENST00000332018;ENST00000382066	D;D	0.90788	-2.73;-2.73	3.85	0.772	0.18510	.	0.688766	0.12312	N	0.480104	T	0.00012	0.0000	L	0.48642	1.525	0.53688	P	2.5000000000052758E-5	B	0.21905	0.062	B	0.24006	0.05	T	0.04593	-1.0940	9	0.42905	T	0.14	.	4.5436	0.12071	0.1275:0.44:0.339:0.0936	rs1974332;rs57507910	6	P0C862	C1T9A_HUMAN	F	6	ENSP00000371503:L6F;ENSP00000333737:L6F	ENSP00000333737:L6F	L	+	1	0	C1QTNF9	23788157	0.428000	0.25522	0.626000	0.29213	0.183000	0.23260	-0.508000	0.06344	0.076000	0.16826	-1.265000	0.01443	CTT	C|0.782;T|0.218	0.218	strong		0.522	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		T	24890157	C	T	24890157	3	4	22	1	0	0	0	0	1	0	0	0	1970	797	28	2	18	2	C1QTNF9	13	24890157	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92244	24890157	90279721	7110	12218										
PARP4	143	hgsc.bcm.edu	37	chr13	25009288	25009288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaggactgtgagcgcgggCagtcgggggaagataggaac	19	7	0	2	rs1050114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25009288C>T	ENST00000381989.3	-	31	4096	c.3991G>A	c.(3991-3993)Gcc>Acc	p.A1331T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1331				A -> T (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494). {ECO:0000305}.	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)		TGAGCGCGGGCAGTCGGGGGA	0.478													c|||	283	0.0565096	0.1959	0.0216	5008	,	,		19228	0.0		0.0089	False		,,,				2504	0.0				p.A1331T		Atlas-SNP	.											.	PARP4	142	.	0			c.G3991A						PASS	.	C	THR/ALA	719,3687	298.4+/-285.3	55,609,1539	83	90	88		3991	-2.3	0	13	dbSNP_86	88	58,8542	35.9+/-90.5	0,58,4242	yes	missense	PARP4	NM_006437.3	58	55,667,5781	TT,TC,CC		0.6744,16.3187,5.9742	benign	1331/1725	25009288	777,12229	2203	4300	6503	SO:0001583	missense	143	exon31			CGCGGGCAGTCGG	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.3991G>A	13.37:g.25009288C>T	ENSP00000371419:p.Ala1331Thr	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	158	81	0.512658	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	112	0.05128205128205128	101	0.20528455284552846	4	0.011049723756906077	0	0.0	7	0.009234828496042216	c	2.703	-0.270503	0.05716	0.163187	0.006744	ENSG00000102699	ENST00000381989	T	0.01745	4.66	2.49	-2.35	0.06684	.	1.812460	0.03814	U	0.266463	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.28026	0.198	B	0.14578	0.011	T	0.48198	-0.9056	9	0.13108	T	0.6	.	11.1398	0.48396	0.0:0.2639:0.7361:0.0	rs1050114;rs3190398;rs52820789;rs58911394;rs1050114	1331	Q9UKK3	PARP4_HUMAN	T	1331	ENSP00000371419:A1331T	ENSP00000371419:A1331T	A	-	1	0	PARP4	23907288	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.045000	0.01410	-0.249000	0.09569	0.313000	0.20887	GCC	C|0.940;T|0.060	0.060	strong		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25009288	C	T	25009288	3	4	22	1	0	0	0	0	1	0	0	0	11463	710	25	2	1199	2	PARP4	13	25009288	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	119131	25009288	90160590	7111	12219										
PARP4	143	hgsc.bcm.edu	37	chr13	25027745	25027745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatgaactctgctgccaTggtattgcttgtgatatgct	10	8	1	3	rs386769073|rs1130943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25027745T>C	ENST00000381989.3	-	23	2911	c.2806A>G	c.(2806-2808)Atg>Gtg	p.M936V	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	936	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.			M -> A (in Ref. 2; AAC62491 and 3; BAA11494). {ECO:0000305}.|M -> T (in Ref. 1; AAD47250). {ECO:0000305}.	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)		TCTGCTGCCATGGTATTGCTT	0.478													N|||	352	0.0702875	0.2262	0.0216	5008	,	,		15989	0.0298		0.001	False		,,,				2504	0.0072				p.M936V		Atlas-SNP	.											PARP4,NS,carcinoma,+2,1	PARP4	142	1	0			c.A2806G						PASS	.	C	VAL/MET	795,3611	743.2+/-411.4	86,623,1494	277	217	237		2806	-3.9	0	13	dbSNP_86	237	14,8586	818.4+/-406.9	0,14,4286	yes	missense	PARP4	NM_006437.3	21	86,637,5780	CC,CT,TT		0.1628,18.0436,6.2202	benign	936/1725	25027745	809,12197	2203	4300	6503	SO:0001583	missense	143	exon23			CTGCCATGGTATT	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.2806A>G	13.37:g.25027745T>C	ENSP00000371419:p.Met936Val	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	191	95	0.497382	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	84	0.038461538461538464	71	0.1443089430894309	7	0.019337016574585635	6	0.01048951048951049	0	0.0	C	2.522	-0.310435	0.05458	0.180436	0.001628	ENSG00000102699	ENST00000381989	T	0.07567	3.18	4.29	-3.89	0.04193	von Willebrand factor, type A (3);	1.850880	0.02221	N	0.063999	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.41538	-0.9503	9	0.16896	T	0.51	0.2561	6.1523	0.20318	0.1226:0.3669:0.0:0.5105	rs1130943;rs3190390;rs12323011;rs17413359	936	Q9UKK3	PARP4_HUMAN	V	936	ENSP00000371419:M936V	ENSP00000371419:M936V	M	-	1	0	PARP4	23925745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.131000	0.03238	-1.328000	0.02261	-0.273000	0.10243	ATG	T|0.949;C|0.051	0.051	strong		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25027745	T	C	25027745	3	2	22	1	0	0	0	0	1	0	0	0	11463	1464	51	2	2416	2	PARP4	13	25027745	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18457	25027745	90142133	7112	12220										
PARP4	143	hgsc.bcm.edu	37	chr13	25049676	25049676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggaaccaagttcccagaGgcatcctggaggccggcctt	13	12	0	2	rs73463182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25049676G>A	ENST00000381989.3	-	15	1953	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	616	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)		AGTTCCCAGAGGCATCCTGGA	0.453													.|||	908	0.18131	0.2564	0.0937	5008	,	,		18770	0.2937		0.0835	False		,,,				2504	0.1268				p.A616A		Atlas-SNP	.											.	PARP4	142	.	0			c.C1848T						PASS	.	G		993,3413	370.3+/-319.5	121,751,1331	108	109	109		1848	-0.1	0.1	13	dbSNP_131	109	640,7960	164.1+/-216.5	30,580,3690	no	coding-synonymous	PARP4	NM_006437.3		151,1331,5021	AA,AG,GG		7.4419,22.5374,12.5557		616/1725	25049676	1633,11373	2203	4300	6503	SO:0001819	synonymous_variant	143	exon15			CCCAGAGGCATCC	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.1848C>T	13.37:g.25049676G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	177	89	0.502825	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																			G|0.865;A|0.135	0.135	strong		0.453	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		A	25049676	G	A	25049676	2	1	22	1	0	0	0	0	0	0	0	1	11463	987	35	2		2	PARP4	13	25049676	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21931	25049676	90120202	7113	12221										
ATP12A	479	hgsc.bcm.edu	37	chr13	25266932	25266932	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgtcttccagaccaagtCtttgaccaaagctctaggac	7	13	4	2	rs963984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25266932C>A	ENST00000381946.3	+	10	1442	c.1275C>A	c.(1273-1275)gtC>gtA	p.V425V	ATP12A_ENST00000218548.6_Silent_p.V431V			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	425					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAGACCAAGTCTTTGACCAAA	0.512													C|||	1165	0.232628	0.1263	0.2983	5008	,	,		21097	0.4593		0.0805	False		,,,				2504	0.2526				p.V431V	Pancreas(156;1582 1935 18898 22665 26498)	Atlas-SNP	.											.	ATP12A	172	.	0			c.C1293A						PASS	.	C	,	499,3907	232.6+/-246.1	32,435,1736	213	211	212		1293,1275	0.4	0.2	13	dbSNP_86	212	809,7791	188.6+/-235.5	47,715,3538	no	coding-synonymous,coding-synonymous	ATP12A	NM_001185085.1,NM_001676.5	,	79,1150,5274	AA,AC,CC		9.407,11.3255,10.0569	,	431/1046,425/1040	25266932	1308,11698	2203	4300	6503	SO:0001819	synonymous_variant	479	exon10			CCAAGTCTTTGAC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1275C>A	13.37:g.25266932C>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	125	53	0.424	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																			C|0.845;A|0.155	0.155	strong		0.512	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25266932	C	A	25266932	2	1	22	1	0	0	0	0	0	0	0	1	1122	900	32	4		4	ATP12A	13	25266932	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	217256	25266932	89902946	7114	12222										
RNF17	56163	hgsc.bcm.edu	37	chr13	25356053	25356053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagttgtggagaaacagttTgaccaacttttggctttttt	10	5	0	2	rs9707144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25356053T>C	ENST00000255324.5	+	6	634	c.582T>C	c.(580-582)ttT>ttC	p.F194F	RNF17_ENST00000255325.6_Silent_p.F194F|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.F194F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	194					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAAACAGTTTGACCAACTTT	0.333													T|||	2193	0.437899	0.4871	0.4712	5008	,	,		16212	0.4315		0.3748	False		,,,				2504	0.4192				p.F194F		Atlas-SNP	.											.	RNF17	259	.	0			c.T582C						PASS	.	T	,	2091,2315	572.8+/-383.4	493,1105,605	143	157	152		582,582	1.7	1	13	dbSNP_119	152	3483,5117	510.5+/-377.5	679,2125,1496	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	1172,3230,2101	CC,CT,TT		40.5,47.458,42.8571	,	194/1620,194/1624	25356053	5574,7432	2203	4300	6503	SO:0001819	synonymous_variant	56163	exon6			ACAGTTTGACCAA	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.582T>C	13.37:g.25356053T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																			T|0.556;C|0.444	0.444	strong		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25356053	T	C	25356053	2	2	22	1	0	0	0	0	0	0	0	1	13461	1809	63	2		2	RNF17	13	25356053	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	89121	25356053	89813825	7115	12223										
RNF17	56163	hgsc.bcm.edu	37	chr13	25374636	25374636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatccagccattagcacaAccatgctcattgaaagacat	6	12	1	2	rs35957316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25374636A>G	ENST00000255324.5	+	13	1774	c.1722A>G	c.(1720-1722)caA>caG	p.Q574Q	RNF17_ENST00000255325.6_Silent_p.Q574Q|RNF17_ENST00000381921.1_Silent_p.Q574Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	574					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATTAGCACAACCATGCTCAT	0.358													A|||	244	0.048722	0.1755	0.0159	5008	,	,		18152	0.0		0.001	False		,,,				2504	0.0				p.Q574Q		Atlas-SNP	.											.	RNF17	259	.	0			c.A1722G						PASS	.	A	,	649,3757	277.8+/-273.9	46,557,1600	125	121	123		1722,1722	0.6	0.9	13	dbSNP_126	123	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	46,569,5888	GG,GA,AA		0.1395,14.7299,5.0823	,	574/1620,574/1624	25374636	661,12345	2203	4300	6503	SO:0001819	synonymous_variant	56163	exon13			AGCACAACCATGC	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1722A>G	13.37:g.25374636A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	87	46	0.528736	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																			A|0.952;G|0.048	0.048	strong		0.358	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25374636	A	G	25374636	2	3	22	1	0	0	0	0	0	0	0	1	13461	40	2	2		2	RNF17	13	25374636	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18583	25374636	89795242	7116	12224										
CENPJ	55835	hgsc.bcm.edu	37	chr13	25480616	25480616	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtctgtctttaccttgTgtcttattccaccctgtgca	8	11	3	0	rs17081368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25480616T>A	ENST00000381884.4	-	7	1745	c.1560A>T	c.(1558-1560)acA>acT	p.T520T	CENPJ_ENST00000545981.1_Silent_p.T520T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	520					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTACCTTGTGTCTTATTCC	0.448													T|||	248	0.0495208	0.1785	0.0159	5008	,	,		17190	0.0		0.001	False		,,,				2504	0.0				p.T520T		Atlas-SNP	.											.	CENPJ	116	.	0			c.A1560T						PASS	.	T		656,3750	274.3+/-271.8	47,562,1594	73	77	76		1560	0.4	0	13	dbSNP_123	76	12,8586	8.4+/-32.0	0,12,4287	no	coding-synonymous	CENPJ	NM_018451.3		47,574,5881	AA,AT,TT		0.1396,14.8888,5.1369		520/1339	25480616	668,12336	2203	4299	6502	SO:0001819	synonymous_variant	55835	exon7			ACCTTGTGTCTTA	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1560A>T	13.37:g.25480616T>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	118	60	0.508475	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	CCDS9310.1																																																																																			T|0.950;A|0.050	0.050	strong		0.448	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25480616	T	A	25480616	2	1	22	1	0	0	0	0	0	0	0	1	3234	1683	59	5		5	CENPJ	13	25480616	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	105980	25480616	89689262	7117	12225										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25670873	25670873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaagtctcgtaaagaacgAgaagctgaacttggagctag	11	6	1	3	rs77142265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25670873A>G	ENST00000281589.3	+	1	574	c.537A>G	c.(535-537)cgA>cgG	p.R179R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTAAAGAACGAGAAGCTGAAC	0.408													a|||	274	0.0547125	0.0779	0.0591	5008	,	,		22193	0.0347		0.0318	False		,,,				2504	0.0644				p.R179R		Atlas-SNP	.											PABPC3,colon,carcinoma,+2,1	PABPC3	129	1	0			c.A537G						scavenged	.						103	96	98					13																	25670873		2203	4300	6503	SO:0001819	synonymous_variant	5042	exon1			AGAACGAGAAGCT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.537A>G	13.37:g.25670873A>G		Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	205	9	0.0439024	NM_030979	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																			A|0.500;G|0.500	0.500	weak		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670873	A	G	25670873	2	3	22	1	0	0	0	0	0	0	0	1	11365	291	11	3		3	PABPC3	13	25670873	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	190257	25670873	89499005	7118	12226										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671742	25671742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttcttcacaggttccacGagtcatgtcaacgcagcgtg	10	12	4	0	rs140135080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25671742G>A	ENST00000281589.3	+	1	1443	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	469					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGGTTCCACGAGTCATGTCA	0.547																																					p.R469Q		Atlas-SNP	.											PABPC3,NS,carcinoma,+1,1	PABPC3	129	1	0			c.G1406A						PASS	.						104	96	98					13																	25671742		2203	4300	6503	SO:0001583	missense	5042	exon1			TTCCACGAGTCAT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1406G>A	13.37:g.25671742G>A	ENSP00000281589:p.Arg469Gln	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	120	6	0.05	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438497	0.12104	.	.	ENSG00000151846	ENST00000281589	T	0.26223	1.75	0.875	-0.195	0.13236	.	0.000000	0.40064	U	0.001189	T	0.13114	0.0318	L	0.35288	1.05	0.42075	D	0.991227	B	0.06786	0.001	B	0.06405	0.002	T	0.20638	-1.0269	10	0.10902	T	0.67	.	5.1429	0.14969	0.252:0.0:0.748:0.0	.	469	Q9H361	PABP3_HUMAN	Q	469	ENSP00000281589:R469Q	ENSP00000281589:R469Q	R	+	2	0	PABPC3	24569742	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	3.032000	0.49736	-0.094000	0.12374	0.313000	0.20887	CGA	G|0.919;A|0.081	0.081	strong		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671742	G	A	25671742	3	1	22	1	0	0	0	0	1	0	0	0	11365	1058	37	1	1408	1	PABPC3	13	25671742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	869	25671742	89498136	7119	12227										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671755	25671755	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccacgagtcatgtcaacGcagcgtgttgctaacacatc					rs116223079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25671755G>A	ENST00000281589.3	+	1	1456	c.1419G>A	c.(1417-1419)acG>acA	p.T473T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCATGTCAACGCAGCGTGTTG	0.537																																					p.T473T		Atlas-SNP	.											PABPC3,bladder,carcinoma,+1,1	PABPC3	129	1	0			c.G1419A						scavenged	.						96	87	90					13																	25671755		2203	4300	6503	SO:0001819	synonymous_variant	5042	exon1			GTCAACGCAGCGT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1419G>A	13.37:g.25671755G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_030979	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																			G|0.911;A|0.089	0.089	strong		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671755	G	A	25671755	2	1	22	1	0	0	0	0	0	0	0	1	11365	1074	38	1		1	PABPC3	13	25671755	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13	25671755	89498123	7120	12228	254	2								
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671759	25671759	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgagtcatgtcaacgcagCgtgttgctaacacatcaaca					rs115121649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25671759C>T	ENST00000281589.3	+	1	1460	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	475					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCAACGCAGCGTGTTGCTAA	0.532																																					p.R475C		Atlas-SNP	.											PABPC3,NS,carcinoma,-1,1	PABPC3	129	1	0			c.C1423T						scavenged	.						93	84	87					13																	25671759		2203	4300	6503	SO:0001583	missense	5042	exon1			ACGCAGCGTGTTG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1423C>T	13.37:g.25671759C>T	ENSP00000281589:p.Arg475Cys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562727	0.13498	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	-1.75	0.08031	.	0.000000	0.48767	U	0.000176	T	0.32346	0.0826	M	0.86740	2.835	0.52501	D	0.999952	B	0.11235	0.004	B	0.06405	0.002	T	0.03750	-1.1007	10	0.48119	T	0.1	.	6.6426	0.22917	0.0:0.732:0.0:0.268	.	475	Q9H361	PABP3_HUMAN	C	475	ENSP00000281589:R475C	ENSP00000281589:R475C	R	+	1	0	PABPC3	24569759	1.000000	0.71417	0.869000	0.34112	0.045000	0.14185	1.663000	0.37429	-0.898000	0.03906	-1.305000	0.01319	CGT	C|0.879;T|0.122	0.122	strong		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671759	C	T	25671759	3	4	22	1	0	0	0	0	1	0	0	0	11365	768	27	1	1425	1	PABPC3	13	25671759	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	25671759	89498119	7121	12229	254	2								
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaacacatcaacacagacaGtgggtccacgtcctgcagct					rs113301206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646				p.V484M		Atlas-SNP	.											PABPC3,brain,glioma,0,1	PABPC3	129	1	0			c.G1450A						scavenged	.						64	58	60					13																	25671786		2203	4300	6503	SO:0001583	missense	5042	exon1			CAGACAGTGGGTC	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG	G|0.938;A|0.062	0.062	strong		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671786	G	A	25671786	3	1	22	1	0	0	0	0	1	0	0	0	11365	1029	36	2	1452	2	PABPC3	13	25671786	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	25671786	89498092	7122	12230	255	2								
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacacagacagtgggtccaCgtcctgcagctgctgctgct					rs113416318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491				p.R487C		Atlas-SNP	.											PABPC3,rectum,carcinoma,0,1	PABPC3	129	1	0			c.C1459T						scavenged	.																																			SO:0001583	missense	5042	exon1			GGTCCACGTCCTG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	113	5	0.0442478	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT	C|0.988;T|0.012	0.012	strong		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	22	1	0	0	0	0	1	0	0	0	11365	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	25671795	89498083	7123	12231	255	2								
WASF3	10810	hgsc.bcm.edu	37	chr13	27250823	27250823	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtctcagagtgtgtaccaTggagcgtcttccgagggatc	13	9	2	1	rs3764108	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:27250823T>C	ENST00000335327.5	+	7	856	c.678T>C	c.(676-678)caT>caC	p.H226H	WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	226					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GTGTGTACCATGGAGCGTCTT	0.512													C|||	1635	0.326478	0.466	0.2666	5008	,	,		17792	0.1081		0.3161	False		,,,				2504	0.4162				p.H226H		Atlas-SNP	.											.	WASF3	68	.	0			c.T678C						PASS	.	C		2000,2406	614.5+/-392.4	479,1042,682	172	161	165		678	-0.2	1	13	dbSNP_107	165	2736,5864	680.9+/-403.7	424,1888,1988	no	coding-synonymous	WASF3	NM_006646.5		903,2930,2670	CC,CT,TT		31.814,45.3926,36.414		226/503	27250823	4736,8270	2203	4300	6503	SO:0001819	synonymous_variant	10810	exon7			GTACCATGGAGCG	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.678T>C	13.37:g.27250823T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_006646	O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	CCDS9318.1																																																																																			T|0.660;C|0.340	0.340	strong		0.512	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			C	27250823	T	C	27250823	2	2	22	1	0	0	0	0	0	0	0	1	17251	1461	51	2		2	WASF3	13	27250823	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1579028	27250823	87919055	7124	12232										
LNX2	222484	hgsc.bcm.edu	37	chr13	28130473	28130473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccctgcccccagcaacGgtcatgccaagggattcatg	9	16	2	0	rs115119970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:28130473G>A	ENST00000316334.3	-	7	1575	c.1446C>T	c.(1444-1446)acC>acT	p.T482T		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	482	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCCCAGCAACGGTCATGCCAA	0.468													G|||	67	0.0133786	0.0446	0.0043	5008	,	,		15881	0.0		0.005	False		,,,				2504	0.0				p.T482T		Atlas-SNP	.											.	LNX2	70	.	0			c.C1446T						PASS	.	G		138,4268	98.9+/-137.6	0,138,2065	114	100	105		1446	-5.4	0.7	13	dbSNP_132	105	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	LNX2	NM_153371.3		0,146,6357	AA,AG,GG		0.093,3.1321,1.1226		482/691	28130473	146,12860	2203	4300	6503	SO:0001819	synonymous_variant	222484	exon7			AGCAACGGTCATG	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1446C>T	13.37:g.28130473G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	29	0.341176	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	37	CCDS9323.1																																																																																			G|0.988;A|0.012	0.012	strong		0.468	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			A	28130473	G	A	28130473	2	1	22	1	0	0	0	0	0	0	0	1	8866	1103	39	1		1	LNX2	13	28130473	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	879650	28130473	87039405	7125	12233										
PAN3	255967	hgsc.bcm.edu	37	chr13	28750683	28750683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaaatgacagtgccaagccAtattcagcccatggtaagac	8	11	1	2	rs142608239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:28750683A>G	ENST00000380958.3	+	3	758	c.606A>G	c.(604-606)ccA>ccG	p.P202P	PAN3_ENST00000399613.1_Silent_p.P56P	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGCCAAGCCATATTCAGCCC	0.338													A|||	17	0.00339457	0.0121	0.0014	5008	,	,		18080	0.0		0.0	False		,,,				2504	0.0				p.P202P		Atlas-SNP	.											.	PAN3	123	.	0			c.A606G						PASS	.	A		60,4346	58.7+/-95.3	1,58,2144	125	122	123		606	4.4	1	13	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	PAN3	NM_175854.7		1,58,6444	GG,GA,AA		0.0,1.3618,0.4613		202/888	28750683	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	255967	exon3			CAAGCCATATTCA	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.606A>G	13.37:g.28750683A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	123	72	0.585366	NM_175854		Silent	SNP	ENST00000380958.3	37	CCDS9329.2																																																																																			A|0.995;G|0.005	0.005	strong		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28750683	A	G	28750683	2	3	22	1	0	0	0	0	0	0	0	1	11415	204	8	2		2	PAN3	13	28750683	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	620210	28750683	86419195	7126	12234										
SLC7A1	6541	hgsc.bcm.edu	37	chr13	30107067	30107067	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaactccccgatgggtctGcctatcagctcgtcgaaggt	12	12	2	1	rs2277451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:30107067G>C	ENST00000380752.5	-	4	809	c.423C>G	c.(421-423)ggC>ggG	p.G141G		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	141					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.G141G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGATGGGTCTGCCTATCAGCT	0.552													G|||	1246	0.248802	0.152	0.2723	5008	,	,		17784	0.6052		0.0517	False		,,,				2504	0.1984				p.G141G		Atlas-SNP	.											SLC7A1,NS,carcinoma,0,1	SLC7A1	64	1	1	Substitution - coding silent(1)	stomach(1)	c.C423G						PASS	.	G		650,3756	276.0+/-272.9	46,558,1599	85	81	82		423	2	1	13	dbSNP_100	82	462,8138	137.6+/-194.5	14,434,3852	no	coding-synonymous	SLC7A1	NM_003045.4		60,992,5451	CC,CG,GG		5.3721,14.7526,8.5499		141/630	30107067	1112,11894	2203	4300	6503	SO:0001819	synonymous_variant	6541	exon4			GGGTCTGCCTATC	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.423C>G	13.37:g.30107067G>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	157	60	0.382166	NM_003045	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																			G|0.860;C|0.140	0.140	strong		0.552	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		C	30107067	G	C	30107067	2	2	22	1	0	0	0	0	0	0	0	1	14692	1306	46	4		4	SLC7A1	13	30107067	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1356384	30107067	85062811	7127	12235										
HMGB1	3146	hgsc.bcm.edu	37	chr13	31037445	31037445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcataacgggccttgtccgcTtttgccatatcttcaaattt	6	11	3	0	rs983723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:31037445T>C	ENST00000405805.1	-	3	1135	c.195A>G	c.(193-195)aaA>aaG	p.K65K	HMGB1_ENST00000341423.5_Silent_p.K65K|HMGB1_ENST00000399494.1_Silent_p.K65K|HMGB1_ENST00000399489.1_Silent_p.K65K|HMGB1_ENST00000339872.4_Silent_p.K65K|HMGB1_ENST00000326004.4_Silent_p.K65K|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	65					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTGTCCGCTTTTGCCATAT	0.368													C|||	399	0.0796725	0.292	0.0159	5008	,	,		19065	0.0		0.002	False		,,,				2504	0.0				p.K65K		Atlas-SNP	.											.	HMGB1	21	.	0			c.A195G						PASS	.	C		996,3410	684.5+/-404.4	121,754,1328	57	64	62		195	3.4	1	13	dbSNP_86	62	7,8593	813.0+/-407.0	0,7,4293	no	coding-synonymous	HMGB1	NM_002128.4		121,761,5621	CC,CT,TT		0.0814,22.6055,7.7118		65/216	31037445	1003,12003	2203	4300	6503	SO:0001819	synonymous_variant	3146	exon3			GTCCGCTTTTGCC	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.195A>G	13.37:g.31037445T>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	22	0.415094	NM_002128	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Silent	SNP	ENST00000405805.1	37	CCDS9335.1																																																																																			T|0.941;C|0.059	0.059	strong		0.368	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		C	31037445	T	C	31037445	2	2	22	1	0	0	0	0	0	0	0	1	7225	1606	56	3		3	HMGB1	13	31037445	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	930378	31037445	84132433	7128	12236										
FRY	10129	hgsc.bcm.edu	37	chr13	32759183	32759183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaatatgtggacttgaccCgcatgctcctagaagctgaa	10	9	0	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:32759183C>T	ENST00000380250.3	+	26	3713	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1073						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R1073C(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGACTTGACCCGCATGCTCCT	0.418																																					p.R1073C		Atlas-SNP	.											FRY,NS,carcinoma,-1,2	FRY	312	2	1	Substitution - Missense(1)	prostate(1)	c.C3217T						scavenged	.						136	131	133					13																	32759183		1851	4089	5940	SO:0001583	missense	10129	exon26			TTGACCCGCATGC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3217C>T	13.37:g.32759183C>T	ENSP00000369600:p.Arg1073Cys	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	189	3	0.015873	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934865	0.73442	.	.	ENSG00000073910	ENST00000380250	T	0.27256	1.68	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.39881	-0.9592	10	0.41790	T	0.15	.	14.3247	0.66512	0.1483:0.8517:0.0:0.0	.	1073	Q5TBA9	FRY_HUMAN	C	1073	ENSP00000369600:R1073C	ENSP00000369600:R1073C	R	+	1	0	FRY	31657183	0.992000	0.36948	1.000000	0.80357	0.929000	0.56500	2.934000	0.48956	2.675000	0.91044	0.650000	0.86243	CGC	.	.	none		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32759183	C	T	32759183	3	4	22	1	0	0	0	0	1	0	0	0	6063	652	23	1	3319	1	FRY	13	32759183	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1721738	32759183	82410695	7129	12237										
BRCA2	675	hgsc.bcm.edu	37	chr13	32912299	32912299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaaatgtcatgattctgtTgtttcaatgtttaagataga	8	3	3	3	rs543304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:32912299T>C	ENST00000380152.3	+	11	4040	c.3807T>C	c.(3805-3807)gtT>gtC	p.V1269V	BRCA2_ENST00000544455.1_Silent_p.V1269V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1269					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGATTCTGTTGTTTCAATGT	0.274			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T|||	842	0.168131	0.1846	0.1527	5008	,	,		19007	0.1726		0.1998	False		,,,				2504	0.1196				p.V1269V	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	.	BRCA2	812	.	0			c.T3807C						PASS	.	T		874,3532	313.0+/-292.9	86,702,1415	27	28	28	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3807	1.6	0	13	dbSNP_83	28	1610,6982	278.0+/-293.2	150,1310,2836	no	coding-synonymous	BRCA2	NM_000059.3		236,2012,4251	CC,CT,TT		18.7384,19.8366,19.1106		1269/3419	32912299	2484,10514	2203	4296	6499	SO:0001819	synonymous_variant	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	TTCTGTTGTTTCA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3807T>C	13.37:g.32912299T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																			C|0.187;N|0.000;T|0.813	0.187	strong		0.274	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32912299	T	C	32912299	2	2	22	1	0	0	0	0	0	0	0	1	1499	1799	63	2		2	BRCA2	13	32912299	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	153116	32912299	82257579	7130	12238										
N4BP2L2	10443	hgsc.bcm.edu	37	chr13	33016660	33016660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaattccttaggttcttCccatcttttcagctttctat	5	10	4	0	rs17077568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33016660C>T	ENST00000504114.1	-	6	2060	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E672K|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E657K|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E575K			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTAGGTTCTTCCCATCTTTTC	0.393													C|||	295	0.0589058	0.1921	0.0159	5008	,	,		19009	0.0		0.0219	False		,,,				2504	0.0082				p.E672K		Atlas-SNP	.											.	N4BP2L2	90	.	0			c.G2014A						PASS	.	C	LYS/GLU	519,3227		31,457,1385	57	58	58		2014	3.4	0	13	dbSNP_123	58	195,8053		3,189,3932	yes	missense	N4BP2L2	NM_033111.3	56	34,646,5317	TT,TC,CC		2.3642,13.8548,5.953	probably-damaging	672/753	33016660	714,11280	1873	4124	5997	SO:0001583	missense	10443	exon7			GTTCTTCCCATCT	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1969G>A	13.37:g.33016660C>T	ENSP00000427477:p.Glu657Lys	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	104	45	0.432692	NM_033111	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		117	0.05357142857142857	99	0.20121951219512196	6	0.016574585635359115	0	0.0	12	0.0158311345646438	C	15.94	2.981485	0.53827	0.138548	0.023642	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.4	3.41	0.39046	.	1.298430	0.04893	N	0.449986	T	0.00356	0.0011	L	0.60455	1.87	0.80722	P	0.0	B;B;P;B;P	0.37122	0.379;0.379;0.583;0.017;0.583	B;B;B;B;B	0.28553	0.091;0.091;0.091;0.012;0.091	T	0.38520	-0.9657	9	0.62326	D	0.03	-3.9312	5.4574	0.16598	0.0:0.6064:0.1691:0.2245	rs17077568;rs52816853;rs17077568	657;672;555;575;555	B4DPY1;Q92802-3;Q96KV2;Q92802-2;Q9Y3H6	.;.;.;.;.	K	555;584;657;657;672;575	ENSP00000427477:E657K;ENSP00000350104:E657K;ENSP00000382328:E672K;ENSP00000394239:E575K	ENSP00000350104:E657K	E	-	1	0	N4BP2L2;RP11-298P3.4	31914660	0.059000	0.20769	0.007000	0.13788	0.163000	0.22366	0.591000	0.23969	1.281000	0.44480	-0.266000	0.10368	GAA	C|0.928;T|0.072	0.072	strong		0.393	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		T	33016660	C	T	33016660	3	4	22	1	0	0	0	0	1	0	0	0	10112	864	30	2	256	2	N4BP2L2	13	33016660	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	104361	33016660	82153218	7131	12239										
N4BP2L2	10443	hgsc.bcm.edu	37	chr13	33017158	33017158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttcttttacaccgatacGactctgtcctaataagtcaa	4	12	3	0	rs17077569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33017158G>T	ENST00000504114.1	-	6	1562	c.1471C>A	c.(1471-1473)Cgt>Agt	p.R491S	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.R506S|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.R491S|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	427					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ACACCGATACGACTCTGTCCT	0.323													G|||	245	0.0489217	0.1543	0.0159	5008	,	,		19508	0.0		0.0219	False		,,,				2504	0.0082				p.R506S		Atlas-SNP	.											N4BP2L2_ENST00000399396,NS,carcinoma,0,3	N4BP2L2	90	3	0			c.C1516A						PASS	.	G	SER/ARG	445,3187		19,407,1390	122	111	114		1516	-0.2	0	13	dbSNP_123	114	193,7957		3,187,3885	yes	missense	N4BP2L2	NM_033111.3	110	22,594,5275	TT,TG,GG		2.3681,12.2522,5.415	benign	506/753	33017158	638,11144	1816	4075	5891	SO:0001583	missense	10443	exon7			CGATACGACTCTG	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1471C>A	13.37:g.33017158G>T	ENSP00000427477:p.Arg491Ser	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	160	84	0.525	NM_033111	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		90	0.04120879120879121	72	0.14634146341463414	6	0.016574585635359115	0	0.0	12	0.0158311345646438	G	1.068	-0.670648	0.03403	0.122522	0.023681	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.45	-0.214	0.13161	.	2.318410	0.01623	N	0.023131	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.14012	0.009;0.009;0.009;0.009	B;B;B;B	0.14023	0.01;0.006;0.01;0.01	T	0.14090	-1.0485	8	0.13470	T	0.59	-0.3124	1.3036	0.02084	0.198:0.1598:0.402:0.2402	rs17077569;rs52835694;rs17077569	491;506;389;389	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	S	389;418;491;491;506	.	ENSP00000350104:R491S	R	-	1	0	N4BP2L2;RP11-298P3.4	31915158	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.165000	0.16564	-0.067000	0.12976	0.650000	0.86243	CGT	G|0.943;T|0.057	0.057	strong		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		T	33017158	G	T	33017158	3	4	22	1	0	0	0	0	1	0	0	0	10112	1058	37	4	754	4	N4BP2L2	13	33017158	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	498	33017158	82152720	7132	12240										
N4BP2L2	10443	hgsc.bcm.edu	37	chr13	33110539	33110539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagagaccattattatgaCcctcataaaatggaacaaat	5	7	1	2	rs144941975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33110539C>A	ENST00000267068.3	-	2	790	c.626G>T	c.(625-627)gGt>gTt	p.G209V	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.G209V	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	209					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTATTATGACCCTCATAAAA	0.338													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		19947	0.0		0.0	False		,,,				2504	0.0				p.G209V		Atlas-SNP	.											.	N4BP2L2	90	.	0			c.G626T						PASS	.	C	VAL/GLY,	34,4372	37.6+/-69.7	0,34,2169	68	69	68		626,	-3.3	0	13	dbSNP_134	68	0,8600		0,0,4300	yes	missense,intron	N4BP2L2	NM_014887.2,NM_033111.3	109,	0,34,6469	AA,AC,CC		0.0,0.7717,0.2614	,	209/584,	33110539	34,12972	2203	4300	6503	SO:0001583	missense	10443	exon2			TTATGACCCTCAT	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.626G>T	13.37:g.33110539C>A	ENSP00000267068:p.Gly209Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	100	40	0.4	NM_014887	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.665	0.307323	0.10733	0.007717	0.0	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.42513	0.97;0.97;0.97	5.58	-3.31	0.04988	.	.	.	.	.	T	0.21347	0.0514	L	0.47716	1.5	0.09310	N	1	P;P	0.45902	0.868;0.454	B;B	0.34038	0.174;0.08	T	0.13150	-1.0520	9	0.62326	D	0.03	-15.1664	10.2296	0.43247	0.0:0.2989:0.0999:0.6013	.	209;209	D6R968;Q92802	.;N42L2_HUMAN	V	209	ENSP00000394239:G209V;ENSP00000423362:G209V;ENSP00000267068:G209V	ENSP00000267068:G209V	G	-	2	0	N4BP2L2	32008539	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.411000	0.07142	-0.881000	0.03992	0.563000	0.77884	GGT	C|0.998;A|0.002	0.002	strong		0.338	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		A	33110539	C	A	33110539	3	1	22	1	0	0	0	0	1	0	0	0	10112	507	18	4	3006	4	N4BP2L2	13	33110539	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93381	33110539	82059339	7133	12241										
N4BP2L2	10443	hgsc.bcm.edu	37	chr13	33110831	33110831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctatatatctcatcgtctgCggatactaatggaggacgtg	11	8	2	0	rs149614093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33110831C>T	ENST00000267068.3	-	2	498	c.334G>A	c.(334-336)Gca>Aca	p.A112T	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.A112T	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	112					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCATCGTCTGCGGATACTAAT	0.413													T|||	8	0.00159744	0.0053	0.0014	5008	,	,		19703	0.0		0.0	False		,,,				2504	0.0				p.A112T		Atlas-SNP	.											.	N4BP2L2	90	.	0			c.G334A						PASS	.	T	THR/ALA,	35,4371	822.9+/-416.5	0,35,2168	194	193	193		334,	-0.4	0	13	dbSNP_134	193	0,8600		0,0,4300	yes	missense,intron	N4BP2L2	NM_014887.2,NM_033111.3	58,	0,35,6468	TT,TC,CC		0.0,0.7944,0.2691	,	112/584,	33110831	35,12971	2203	4300	6503	SO:0001583	missense	10443	exon2			CGTCTGCGGATAC	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.334G>A	13.37:g.33110831C>T	ENSP00000267068:p.Ala112Thr	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_014887	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	0.982	-0.696861	0.03279	0.007944	0.0	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.41400	1.0;1.0;1.0	5.09	-0.355	0.12587	.	.	.	.	.	T	0.07818	0.0196	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30297	-0.9983	9	0.15499	T	0.54	-16.1287	5.0255	0.14383	0.1598:0.4478:0.0:0.3924	.	112;112	D6R968;Q92802	.;N42L2_HUMAN	T	112	ENSP00000394239:A112T;ENSP00000423362:A112T;ENSP00000267068:A112T	ENSP00000267068:A112T	A	-	1	0	N4BP2L2	32008831	0.005000	0.15991	0.000000	0.03702	0.071000	0.16799	-0.142000	0.10311	-0.249000	0.09569	-0.360000	0.07572	GCA	C|0.998;T|0.002	0.002	strong		0.413	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		T	33110831	C	T	33110831	3	4	22	1	0	0	0	0	1	0	0	0	10112	768	27	1	3298	1	N4BP2L2	13	33110831	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	292	33110831	82059047	7134	12242										
KL	9365	hgsc.bcm.edu	37	chr13	33628138	33628138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcatctattctgcctgatTttactgaatctgagaaaaag	6	7	4	3	rs9536314	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33628138T>G	ENST00000380099.3	+	2	1062	c.1054T>G	c.(1054-1056)Ttt>Gtt	p.F352V	KL_ENST00000426690.2_Missense_Mutation_p.F45V|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	352	Glycosyl hydrolase-1 1.		F -> V (in allele KL-VS; associated with S-370; dbSNP:rs9536314). {ECO:0000269|PubMed:11792841, ECO:0000269|PubMed:15677572}.		acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCTGCCTGATTTTACTGAATC	0.398													T|||	651	0.129992	0.2005	0.0821	5008	,	,		19946	0.0		0.1938	False		,,,				2504	0.137				p.F352V		Atlas-SNP	.											.	KL	106	.	0			c.T1054G	GRCh37	CM020378	KL	M	rs9536314	PASS	.	T	VAL/PHE	816,3590	325.6+/-299.2	74,668,1461	172	175	174		1054	5.9	0.9	13	dbSNP_119	174	1411,7189	273.9+/-290.9	116,1179,3005	yes	missense	KL	NM_004795.3	50	190,1847,4466	GG,GT,TT		16.407,18.5202,17.1229	probably-damaging	352/1013	33628138	2227,10779	2203	4300	6503	SO:0001583	missense	9365	exon2			CCTGATTTTACTG	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1054T>G	13.37:g.33628138T>G	ENSP00000369442:p.Phe352Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	82	34	0.414634	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	287	0.13141025641025642	93	0.18902439024390244	41	0.1132596685082873	0	0.0	153	0.20184696569920843	T	24.2	4.501579	0.85176	0.185202	0.16407	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.32753	1.44;1.44	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.00109	0.0003	M	0.74467	2.265	0.09310	P	0.9999999999726445	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00202	-1.1925	9	0.87932	D	0	-24.0951	16.3317	0.83023	0.0:0.0:0.0:1.0	rs9536314;rs52816323;rs58038499;rs9536314	352;45	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	V	45;352	ENSP00000399513:F45V;ENSP00000369442:F352V	ENSP00000369442:F352V	F	+	1	0	KL	32526138	1.000000	0.71417	0.944000	0.38274	0.853000	0.48598	7.914000	0.87478	2.264000	0.75181	0.533000	0.62120	TTT	T|0.846;G|0.154	0.154	strong		0.398	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			G	33628138	T	G	33628138	3	3	22	1	0	0	0	0	1	0	0	0	8331	1841	64	5	1060	5	KL	13	33628138	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	517307	33628138	81541740	7135	12243										
KL	9365	hgsc.bcm.edu	37	chr13	33628193	33628193	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgacttttttgctctttGctttggacccaccttgagtt	8	10	1	2	rs9527025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33628193G>C	ENST00000380099.3	+	2	1117	c.1109G>C	c.(1108-1110)tGc>tCc	p.C370S	KL_ENST00000426690.2_Missense_Mutation_p.C63S|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	370	Glycosyl hydrolase-1 1.		C -> S (in allele KL-VS; associated with V-352; dbSNP:rs9527025). {ECO:0000269|PubMed:11792841, ECO:0000269|PubMed:15677572}.		acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTGCTCTTTGCTTTGGACCC	0.423													C|||	651	0.129992	0.2005	0.0821	5008	,	,		19195	0.0		0.1938	False		,,,				2504	0.137				p.C370S		Atlas-SNP	.											.	KL	106	.	0			c.G1109C	GRCh37	CM022034	KL	M	rs9527025	PASS	.	C	SER/CYS	816,3590	749.3+/-412.0	74,668,1461	176	181	180		1109	5.9	1	13	dbSNP_119	180	1411,7189	752.4+/-407.4	116,1179,3005	yes	missense	KL	NM_004795.3	112	190,1847,4466	CC,CG,GG		16.407,18.5202,17.1229	benign	370/1013	33628193	2227,10779	2203	4300	6503	SO:0001583	missense	9365	exon2			CTCTTTGCTTTGG	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1109G>C	13.37:g.33628193G>C	ENSP00000369442:p.Cys370Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	114	49	0.429825	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	287	0.13141025641025642	93	0.18902439024390244	41	0.1132596685082873	0	0.0	153	0.20184696569920843	C	7.622	0.677076	0.14841	0.185202	0.16407	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.27402	1.67;1.82	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00020	-2.78	0.43029	P	0.005404999999999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	9	0.23891	T	0.37	-32.9193	17.3287	0.87257	0.0:0.8748:0.1252:0.0	rs9527025;rs52797932;rs9527025	370;63	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	S	63;370	ENSP00000399513:C63S;ENSP00000369442:C370S	ENSP00000369442:C370S	C	+	2	0	KL	32526193	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.982000	0.70532	1.527000	0.49086	-0.120000	0.15030	TGC	G|0.848;C|0.152	0.152	strong		0.423	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			C	33628193	G	C	33628193	3	2	22	1	0	0	0	0	1	0	0	0	8331	1319	46	4	1115	4	KL	13	33628193	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55	33628193	81541685	7136	12244										
KL	9365	hgsc.bcm.edu	37	chr13	33628239	33628239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttggaccctcacatgaaGttccgccaattggaatctcc	7	13	2	1	rs9527026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33628239G>A	ENST00000380099.3	+	2	1163	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	KL_ENST00000426690.2_Silent_p.K78K|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	385	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCACATGAAGTTCCGCCAAT	0.408													A|||	651	0.129992	0.2005	0.0821	5008	,	,		18159	0.0		0.1938	False		,,,				2504	0.137				p.K385K		Atlas-SNP	.											.	KL	106	.	0			c.G1155A						PASS	.	A		815,3591	748.9+/-412.0	74,667,1462	174	180	178		1155	3.2	1	13	dbSNP_119	178	1411,7189	752.1+/-407.4	116,1179,3005	no	coding-synonymous	KL	NM_004795.3		190,1846,4467	AA,AG,GG		16.407,18.4975,17.1152		385/1013	33628239	2226,10780	2203	4300	6503	SO:0001819	synonymous_variant	9365	exon2			CATGAAGTTCCGC	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1155G>A	13.37:g.33628239G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	125	56	0.448	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																			G|0.844;A|0.156	0.156	strong		0.408	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			A	33628239	G	A	33628239	2	1	22	1	0	0	0	0	0	0	0	1	8331	1020	36	2		2	KL	13	33628239	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46	33628239	81541639	7137	12245										
STARD13	90627	hgsc.bcm.edu	37	chr13	33684221	33684221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcttcagcgggttcccgtCgcccaccttgggaaagacaa	11	14	1	1	rs140868444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33684221C>T	ENST00000336934.5	-	12	2952	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	STARD13_ENST00000399365.3_Missense_Mutation_p.D828N|STARD13_ENST00000255486.4_Missense_Mutation_p.D938N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	946	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGTTCCCGTCGCCCACCTTG	0.547											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	13	0.00259585	0.0098	0.0	5008	,	,		18177	0.0		0.0	False		,,,				2504	0.0				p.D946N		Atlas-SNP	.											.	STARD13	100	.	0			c.G2836A						PASS	.	C	ASN/ASP,ASN/ASP,ASN/ASP	51,4355	53.6+/-89.4	0,51,2152	36	35	35		2482,2836,2812	5.3	0.9	13	dbSNP_134	35	0,8600		0,0,4300	yes	missense,missense,missense	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	23,23,23	0,51,6452	TT,TC,CC		0.0,1.1575,0.3921	probably-damaging,probably-damaging,probably-damaging	828/996,946/1114,938/1106	33684221	51,12955	2203	4300	6503	SO:0001583	missense	90627	exon12			TCCCGTCGCCCAC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2836G>A	13.37:g.33684221C>T	ENSP00000338785:p.Asp946Asn	Somatic	64	0	0	841	WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	35	5.458396	0.96240	0.011575	0.0	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.34859	1.34;1.34;1.34	5.34	5.34	0.76211	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.77004	0.954;0.989;0.982	T	0.71573	-0.4552	10	0.87932	D	0	.	19.4036	0.94640	0.0:1.0:0.0:0.0	.	911;946;938	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	N	828;938;946	ENSP00000382300:D828N;ENSP00000255486:D938N;ENSP00000338785:D946N	ENSP00000255486:D938N	D	-	1	0	STARD13	32582221	1.000000	0.71417	0.931000	0.37212	0.958000	0.62258	7.689000	0.84165	2.657000	0.90304	0.655000	0.94253	GAC	C|0.996;T|0.004	0.004	strong		0.547	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		T	33684221	C	T	33684221	3	4	22	1	0	0	0	0	1	0	0	0	15255	884	31	1	517	1	STARD13	13	33684221	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55982	33684221	81485657	7138	12246										
STARD13	90627	hgsc.bcm.edu	37	chr13	33704346	33704346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcgtgtagaggtcgtcCacacgagaccacctgcgact	12	13	0	2	rs114088950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33704346C>T	ENST00000336934.5	-	5	584	c.468G>A	c.(466-468)gtG>gtA	p.V156V	STARD13_ENST00000399365.3_Silent_p.V38V|STARD13_ENST00000255486.4_Silent_p.V148V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	156					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGGTCGTCCACACGAGACC	0.557													C|||	86	0.0171725	0.0492	0.0014	5008	,	,		21153	0.0		0.0	False		,,,				2504	0.0204				p.V156V		Atlas-SNP	.											.	STARD13	100	.	0			c.G468A						PASS	.	C	,,	147,4259	103.8+/-142.4	3,141,2059	82	62	69		114,468,444	5.4	1	13	dbSNP_132	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,,	3,142,6358	TT,TC,CC		0.0116,3.3364,1.1379	,,	38/996,156/1114,148/1106	33704346	148,12858	2203	4300	6503	SO:0001819	synonymous_variant	90627	exon5			GTCGTCCACACGA	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.468G>A	13.37:g.33704346C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	43	18	0.418605	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	CCDS9348.1																																																																																			C|0.986;T|0.014	0.014	strong		0.557	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		T	33704346	C	T	33704346	2	4	22	1	0	0	0	0	0	0	0	1	15255	581	21	2		2	STARD13	13	33704346	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20125	33704346	81465532	7139	12247										
STARD13	90627	hgsc.bcm.edu	37	chr13	33741716	33741716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgagcgtattgcgggaaCccggcagcacggagccagtc	14	12	0	1	rs17078661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:33741716C>T	ENST00000336934.5	-	2	329	c.213G>A	c.(211-213)ggG>ggA	p.G71G	STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Silent_p.G63G|STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	71	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATTGCGGGAACCCGGCAGCAC	0.483													C|||	178	0.0355431	0.1301	0.0086	5008	,	,		18769	0.0		0.0	False		,,,				2504	0.0				p.G71G		Atlas-SNP	.											STARD13,NS,carcinoma,-1,1	STARD13	100	1	0			c.G213A						PASS	.	C	,,	558,3848	250.9+/-257.8	30,498,1675	96	93	94		,213,189	-3.2	1	13	dbSNP_123	94	7,8593	5.7+/-21.5	0,7,4293	no	utr-5,coding-synonymous,coding-synonymous	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,,	30,505,5968	TT,TC,CC		0.0814,12.6645,4.3441	,,	,71/1114,63/1106	33741716	565,12441	2203	4300	6503	SO:0001819	synonymous_variant	90627	exon2			CGGGAACCCGGCA	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.213G>A	13.37:g.33741716C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	CCDS9348.1																																																																																			C|0.960;T|0.040	0.040	strong		0.483	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		T	33741716	C	T	33741716	2	4	22	1	0	0	0	0	0	0	0	1	15255	494	18	2		2	STARD13	13	33741716	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37370	33741716	81428162	7140	12248										
NBEA	26960	hgsc.bcm.edu	37	chr13	35864573	35864573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtggttgagcttgttatgCtgctttgttctcaggtacaa	11	7	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:35864573C>T	ENST00000400445.3	+	35	6358	c.5824C>T	c.(5824-5826)Ctg>Ttg	p.L1942L	NBEA_ENST00000540320.1_Silent_p.L1942L|NBEA_ENST00000310336.4_Silent_p.L1942L|NBEA_ENST00000379939.2_Silent_p.L1939L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1942					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTTGTTATGCTGCTTTGTTC	0.323																																					p.L1942L		Atlas-SNP	.											NBEA,NS,carcinoma,-2,1	NBEA	340	1	0			c.C5824T						scavenged	.						292	274	280					13																	35864573		1857	4092	5949	SO:0001819	synonymous_variant	26960	exon35			GTTATGCTGCTTT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5824C>T	13.37:g.35864573C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	154	3	0.0194805	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																			.	.	none		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35864573	C	T	35864573	2	4	22	1	0	0	0	0	0	0	0	1	10187	796	28	2		2	NBEA	13	35864573	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2122857	35864573	79305305	7141	12249										
DCLK1	9201	hgsc.bcm.edu	37	chr13	36385031	36385031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccacagactgtgtacagGgggccgtctacaatggtggc	15	10	1	1	rs2322807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:36385031G>T	ENST00000360631.3	-	12	1840	c.1629C>A	c.(1627-1629)ccC>ccA	p.P543P	DCLK1_ENST00000255448.4_Silent_p.P543P|DCLK1_ENST00000379893.1_Silent_p.P236P			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CTGTGTACAGGGGGCCGTCTA	0.458													G|||	1492	0.297923	0.4289	0.2421	5008	,	,		16326	0.2778		0.2296	False		,,,				2504	0.2515				p.P543P		Atlas-SNP	.											.	DCLK1	350	.	0			c.C1629A						PASS	.	G	,,	1867,2539	539.6+/-375.3	401,1065,737	170	164	166		708,708,1629	1	1	13	dbSNP_100	166	1842,6758	329.8+/-318.9	187,1468,2645	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	588,2533,3382	TT,TG,GG		21.4186,42.374,28.5176	,,	236/423,236/434,543/730	36385031	3709,9297	2203	4300	6503	SO:0001819	synonymous_variant	9201	exon12			GTACAGGGGGCCG	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.1629C>A	13.37:g.36385031G>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																				G|0.713;T|0.287	0.287	strong		0.458	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36385031	G	T	36385031	2	4	22	1	0	0	0	0	0	0	0	1	4291	1219	43	4		4	DCLK1	13	36385031	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	520458	36385031	78784847	7142	12250										
SMAD9	4093	hgsc.bcm.edu	37	chr13	37453576	37453576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacatggggcaggcccttgCggtgggacacctgcagccgc	15	14	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:37453576C>T	ENST00000399275.2	-	1	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H	SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.R84H|SMAD9_ENST00000350148.5_Missense_Mutation_p.R84H			O15198	SMAD9_HUMAN	SMAD family member 9	84	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CAGGCCCTTGCGGTGGGACAC	0.657																																					p.R84H		Atlas-SNP	.											SMAD9_ENST00000379826,NS,carcinoma,-1,2	SMAD9	91	2	0			c.G251A						scavenged	.						36	40	39					13																	37453576		2203	4300	6503	SO:0001583	missense	4093	exon2			CCCTTGCGGTGGG		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.251G>A	13.37:g.37453576C>T	ENSP00000382216:p.Arg84His	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	2	0.0273973	NM_005905	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098209	0.76870	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.77750	-1.12;-1.12;-1.12	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.981;0.982	D	0.90040	0.4141	10	0.66056	D	0.02	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	84;84	O15198-2;O15198	.;SMAD9_HUMAN	H	84	ENSP00000382216:R84H;ENSP00000239885:R84H;ENSP00000369154:R84H	ENSP00000239885:R84H	R	-	2	0	SMAD9	36351576	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.762000	0.85270	2.599000	0.87857	0.563000	0.77884	CGC	.	.	none		0.657	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		T	37453576	C	T	37453576	3	4	22	1	0	0	0	0	1	0	0	0	14764	768	27	1	1176	1	SMAD9	13	37453576	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1068545	37453576	77716302	7143	12251										
EXOSC8	11340	hgsc.bcm.edu	37	chr13	37580139	37580139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcccaagtggctagccaGttcattgcagatgtcattga	12	9	2	2	rs1127446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:37580139G>A	ENST00000389704.3	+	6	586	c.321G>A	c.(319-321)caG>caA	p.Q107Q	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGGCTAGCCAGTTCATTGCAG	0.413													G|||	2071	0.413538	0.0817	0.4236	5008	,	,		14507	0.7232		0.3797	False		,,,				2504	0.5706				p.Q107Q		Atlas-SNP	.											.	EXOSC8	16	.	0			c.G321A						PASS	.	G		624,3782	268.6+/-268.5	47,530,1626	92	87	89		321	4.2	1	13	dbSNP_86	89	3428,5172	505.0+/-376.3	692,2044,1564	no	coding-synonymous	EXOSC8	NM_181503.2		739,2574,3190	AA,AG,GG		39.8605,14.1625,31.1549		107/277	37580139	4052,8954	2203	4300	6503	SO:0001819	synonymous_variant	11340	exon6			TAGCCAGTTCATT	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.321G>A	13.37:g.37580139G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	149	75	0.503356	NM_181503	O43480|Q5TBA5	Silent	SNP	ENST00000389704.3	37	CCDS31958.1																																																																																			G|0.659;A|0.341	0.341	strong		0.413	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		A	37580139	G	A	37580139	2	1	22	1	0	0	0	0	0	0	0	1	5320	1020	36	2		2	EXOSC8	13	37580139	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126563	37580139	77589739	7144	12252										
CSNK1A1L	122011	hgsc.bcm.edu	37	chr13	37679268	37679268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattccagcttcactgctacGtcctcgccgttggtggtggt	12	12	1	0	rs9576175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:37679268G>T	ENST00000379800.3	-	1	535	c.126C>A	c.(124-126)gaC>gaA	p.D42E		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in dbSNP:rs9576175). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D42E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCACTGCTACGTCCTCGCCGT	0.542													T|||	2989	0.596845	0.5567	0.5735	5008	,	,		18426	0.8135		0.494	False		,,,				2504	0.5501				p.D42E		Atlas-SNP	.											CSNK1A1L,NS,carcinoma,0,1	CSNK1A1L	69	1	1	Substitution - Missense(1)	prostate(1)	c.C126A						PASS	.	T	GLU/ASP	2388,2018	564.2+/-381.4	652,1084,467	153	132	139		126	0.8	0.3	13	dbSNP_119	139	4292,4308	577.9+/-390.6	1080,2132,1088	yes	missense	CSNK1A1L	NM_145203.5	45	1732,3216,1555	TT,TG,GG		49.907,45.8012,48.6391	benign	42/338	37679268	6680,6326	2203	4300	6503	SO:0001583	missense	122011	exon1			TGCTACGTCCTCG	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.126C>A	13.37:g.37679268G>T	ENSP00000369126:p.Asp42Glu	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	1322	0.6053113553113553	269	0.5467479674796748	209	0.5773480662983426	463	0.8094405594405595	381	0.5026385224274407	T	0.004	-2.283595	0.00251	0.541988	0.49907	ENSG00000180138	ENST00000379800	T	0.17854	2.25	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055041	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00280	-1.71	0.58432	P	9.99999999995449E-6	B	0.02656	0.0	B	0.08055	0.003	T	0.25117	-1.0141	9	0.02654	T	1	.	4.8674	0.13615	0.0:0.0:0.3161:0.6839	rs9576175;rs17845861;rs17858836;rs52827977;rs61019247;rs9576175	42	Q8N752	KC1AL_HUMAN	E	42	ENSP00000369126:D42E	ENSP00000369126:D42E	D	-	3	2	CSNK1A1L	36577268	0.997000	0.39634	0.305000	0.25099	0.232000	0.25224	0.197000	0.17197	-0.206000	0.10203	-0.363000	0.07495	GAC	G|0.444;T|0.556	0.556	strong		0.542	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		T	37679268	G	T	37679268	3	4	22	1	0	0	0	0	1	0	0	0	3951	1136	40	4	891	4	CSNK1A1L	13	37679268	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99129	37679268	77490610	7145	12253										
TRPC4	7223	hgsc.bcm.edu	37	chr13	38211046	38211046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccttcaagtatcacaaTcttgtggtcacgtaatcttc	5	12	5	0	rs731860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:38211046T>C	ENST00000379705.3	-	11	3785	c.2928A>G	c.(2926-2928)agA>agG	p.R976R	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.R981R|TRPC4_ENST00000379679.1_Silent_p.R803R|TRPC4_ENST00000338947.5_Silent_p.R803R|TRPC4_ENST00000358477.2_Silent_p.R892R|TRPC4_ENST00000355779.2_Silent_p.R835R|TRPC4_ENST00000379673.2_Silent_p.R827R|TRPC4_ENST00000447043.1_Silent_p.R835R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	976	Binds to ITPR1, ITPR2 and ITPR3.|PDZ-binding domain.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTATCACAATCTTGTGGTCA	0.403													T|||	154	0.0307508	0.1112	0.0086	5008	,	,		19821	0.0		0.001	False		,,,				2504	0.0				p.R981R		Atlas-SNP	.											.	TRPC4	389	.	0			c.A2943G						PASS	.	T	,,,,,	428,3978	208.5+/-229.5	24,380,1799	118	111	114		2676,2481,2505,2409,2943,2928	-1.3	0.2	13	dbSNP_86	114	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPC4	NM_001135955.1,NM_001135956.1,NM_001135957.1,NM_001135958.1,NM_003306.1,NM_016179.2	,,,,,	24,387,6092	CC,CT,TT		0.0814,9.714,3.3446	,,,,,	892/894,827/829,835/837,803/805,981/983,976/978	38211046	435,12571	2203	4300	6503	SO:0001819	synonymous_variant	7223	exon11			TCACAATCTTGTG	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2928A>G	13.37:g.38211046T>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	112	63	0.5625	NM_003306	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																			T|0.959;C|0.041	0.041	strong		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		C	38211046	T	C	38211046	2	2	22	1	0	0	0	0	0	0	0	1	16577	1432	50	2		2	TRPC4	13	38211046	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	531778	38211046	76958832	7146	12254										
FREM2	341640	hgsc.bcm.edu	37	chr13	39263422	39263422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagtggcagcagcaggaCataacagagggcaggctgtt	15	8	0	2	rs41292751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39263422C>T	ENST00000280481.7	+	1	2157	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	647					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCAGCAGGACATAACAGAGG	0.532													C|||	61	0.0121805	0.0008	0.0216	5008	,	,		17077	0.0		0.0378	False		,,,				2504	0.0072				p.D647D		Atlas-SNP	.											.	FREM2	385	.	0			c.C1941T						PASS	.	C		43,4363	45.3+/-79.5	0,43,2160	72	66	68		1941	5.1	1	13	dbSNP_127	68	324,8276	114.8+/-174.7	5,314,3981	no	coding-synonymous	FREM2	NM_207361.4		5,357,6141	TT,TC,CC		3.7674,0.9759,2.8218		647/3170	39263422	367,12639	2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			GCAGGACATAACA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1941C>T	13.37:g.39263422C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			C|0.973;T|0.027	0.027	strong		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39263422	C	T	39263422	2	4	22	1	0	0	0	0	0	0	0	1	6045	477	17	2		2	FREM2	13	39263422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1052376	39263422	75906456	7147	12255										
FREM2	341640	hgsc.bcm.edu	37	chr13	39263646	39263646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcccagctcacaccactgaGgaagaagtggctgcgctaca	10	13	1	2	rs58363253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39263646G>A	ENST00000280481.7	+	1	2381	c.2165G>A	c.(2164-2166)aGg>aAg	p.R722K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	722			R -> K (in dbSNP:rs58363253).		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACACCACTGAGGAAGAAGTGG	0.552													G|||	315	0.0628994	0.208	0.0231	5008	,	,		19051	0.001		0.0089	False		,,,				2504	0.0143				p.R722K		Atlas-SNP	.											.	FREM2	385	.	0			c.G2165A						PASS	.	G	LYS/ARG	745,3661	305.5+/-289.0	68,609,1526	67	64	65		2165	5.1	1	13	dbSNP_129	65	88,8512	49.8+/-109.6	1,86,4213	yes	missense	FREM2	NM_207361.4	26	69,695,5739	AA,AG,GG		1.0233,16.9088,6.4047	benign	722/3170	39263646	833,12173	2203	4300	6503	SO:0001583	missense	341640	exon1			CACTGAGGAAGAA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2165G>A	13.37:g.39263646G>A	ENSP00000280481:p.Arg722Lys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	96	0.04395604395604396	82	0.16666666666666666	9	0.024861878453038673	0	0.0	5	0.006596306068601583	G	11.87	1.768801	0.31320	0.169088	0.010233	ENSG00000150893	ENST00000280481	T	0.28255	1.62	5.97	5.13	0.70059	.	0.088825	0.64402	N	0.000001	T	0.00073	0.0002	L	0.49513	1.565	0.18873	P	0.9999848891	B	0.02656	0.0	B	0.06405	0.002	T	0.12708	-1.0537	9	0.17832	T	0.49	.	14.9829	0.71324	0.0679:0.0:0.932:0.0	rs58363253;rs61734231	722	Q5SZK8	FREM2_HUMAN	K	722	ENSP00000280481:R722K	ENSP00000280481:R722K	R	+	2	0	FREM2	38161646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.884000	0.48562	1.541000	0.49316	0.655000	0.94253	AGG	G|0.949;A|0.051	0.051	strong		0.552	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39263646	G	A	39263646	3	1	22	1	0	0	0	0	1	0	0	0	6045	1000	35	2	2167	2	FREM2	13	39263646	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224	39263646	75906232	7148	12256										
FREM2	341640	hgsc.bcm.edu	37	chr13	39264083	39264083	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcccatatctctttcactCtcactcaggcacccaaacat	3	16	4	0	rs7329939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39264083C>G	ENST00000280481.7	+	1	2818	c.2602C>G	c.(2602-2604)Ctc>Gtc	p.L868V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	868			L -> V (in dbSNP:rs7329939).		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTTTCACTCTCACTCAGGC	0.507													C|||	315	0.0628994	0.208	0.0231	5008	,	,		21471	0.001		0.0089	False		,,,				2504	0.0143				p.L868V		Atlas-SNP	.											.	FREM2	385	.	0			c.C2602G						PASS	.	C	VAL/LEU	745,3661	306.3+/-289.4	68,609,1526	101	88	92		2602	5.8	1	13	dbSNP_116	92	88,8512	49.8+/-109.6	1,86,4213	yes	missense	FREM2	NM_207361.4	32	69,695,5739	GG,GC,CC		1.0233,16.9088,6.4047	benign	868/3170	39264083	833,12173	2203	4300	6503	SO:0001583	missense	341640	exon1			TTCACTCTCACTC	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2602C>G	13.37:g.39264083C>G	ENSP00000280481:p.Leu868Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	64	0.561404	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	96	0.04395604395604396	82	0.16666666666666666	9	0.024861878453038673	0	0.0	5	0.006596306068601583	C	10.04	1.240711	0.22711	0.169088	0.010233	ENSG00000150893	ENST00000280481	T	0.43294	0.95	5.8	5.8	0.92144	.	0.062991	0.64402	D	0.000004	T	0.00109	0.0003	N	0.25647	0.755	0.19575	P	0.9999648898	B	0.30824	0.296	B	0.27262	0.078	T	0.03068	-1.1076	9	0.33940	T	0.23	.	20.0609	0.97674	0.0:1.0:0.0:0.0	rs7329939;rs52807873;rs7329939	868	Q5SZK8	FREM2_HUMAN	V	868	ENSP00000280481:L868V	ENSP00000280481:L868V	L	+	1	0	FREM2	38162083	0.038000	0.19896	1.000000	0.80357	0.329000	0.28539	0.383000	0.20651	2.755000	0.94549	0.655000	0.94253	CTC	C|0.947;G|0.053	0.053	strong		0.507	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39264083	C	G	39264083	3	3	22	1	0	0	0	0	1	0	0	0	6045	913	32	4	2604	4	FREM2	13	39264083	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	437	39264083	75905795	7149	12257										
FREM2	341640	hgsc.bcm.edu	37	chr13	39264690	39264690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagccaggccccagaaatctTtgtaggtgaacagttgatag	11	8	1	3	rs2496425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39264690T>C	ENST00000280481.7	+	1	3425	c.3209T>C	c.(3208-3210)tTt>tCt	p.F1070S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1070			F -> S (in dbSNP:rs2496425).		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGAAATCTTTGTAGGTGAA	0.413													C|||	2410	0.48123	0.8381	0.4496	5008	,	,		21289	0.4177		0.2624	False		,,,				2504	0.3119				p.F1070S		Atlas-SNP	.											FREM2,colon,carcinoma,0,1	FREM2	385	1	0			c.T3209C	GRCh37	CM065186	FREM2	M	rs2496425	PASS	.	C	SER/PHE	3315,1091	395.4+/-329.6	1247,821,135	105	106	106		3209	6.1	1	13	dbSNP_100	106	2360,6240	702.8+/-405.3	325,1710,2265	yes	missense	FREM2	NM_207361.4	155	1572,2531,2400	CC,CT,TT		27.4419,24.7617,43.6337	benign	1070/3170	39264690	5675,7331	2203	4300	6503	SO:0001583	missense	341640	exon1			AAATCTTTGTAGG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3209T>C	13.37:g.39264690T>C	ENSP00000280481:p.Phe1070Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	104	43	0.413462	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	998	0.45695970695970695	403	0.8191056910569106	151	0.4171270718232044	245	0.42832167832167833	199	0.262532981530343	C	0.013	-1.615018	0.00835	0.752383	0.274419	ENSG00000150893	ENST00000280481	T	0.39229	1.09	6.07	6.07	0.98685	.	0.283692	0.41001	N	0.000966	T	0.00012	0.0000	N	0.21545	0.675	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	9	0.11794	T	0.64	.	10.1398	0.42728	0.0:0.8123:0.0:0.1877	rs2496425;rs17304515;rs57839593;rs2496425	1070	Q5SZK8	FREM2_HUMAN	S	1070	ENSP00000280481:F1070S	ENSP00000280481:F1070S	F	+	2	0	FREM2	38162690	0.000000	0.05858	0.989000	0.46669	0.624000	0.37722	0.928000	0.28831	1.598000	0.50083	-0.128000	0.14901	TTT	T|0.546;C|0.454	0.454	strong		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39264690	T	C	39264690	3	2	22	1	0	0	0	0	1	0	0	0	6045	1841	64	2	3211	2	FREM2	13	39264690	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	607	39264690	75905188	7150	12258										
FREM2	341640	hgsc.bcm.edu	37	chr13	39265558	39265558	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagacgaaaacctactggTgcctttgaaaatatcacact	7	10	1	2	rs41292757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39265558T>A	ENST00000280481.7	+	1	4293	c.4077T>A	c.(4075-4077)ggT>ggA	p.G1359G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1359					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACCTACTGGTGCCTTTGAAA	0.398													T|||	59	0.0117812	0.0008	0.0216	5008	,	,		21033	0.0		0.0378	False		,,,				2504	0.0051				p.G1359G		Atlas-SNP	.											.	FREM2	385	.	0			c.T4077A						PASS	.	T		43,4363	44.6+/-78.6	0,43,2160	63	64	63		4077	0.2	0.8	13	dbSNP_127	63	324,8276	114.8+/-174.7	5,314,3981	no	coding-synonymous	FREM2	NM_207361.4		5,357,6141	AA,AT,TT		3.7674,0.9759,2.8218		1359/3170	39265558	367,12639	2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			TACTGGTGCCTTT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4077T>A	13.37:g.39265558T>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	128	61	0.476562	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			T|0.972;A|0.028	0.028	strong		0.398	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39265558	T	A	39265558	2	1	22	1	0	0	0	0	0	0	0	1	6045	1683	59	5		5	FREM2	13	39265558	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	868	39265558	75904320	7151	12259										
FREM2	341640	hgsc.bcm.edu	37	chr13	39343822	39343822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggccacatggcgagtgCggatcctgagtgatggggag	18	9	0	2	rs9603422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39343822C>T	ENST00000280481.7	+	4	5734	c.5518C>T	c.(5518-5520)Cgg>Tgg	p.R1840W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGGCGAGTGCGGATCCTGAG	0.542													C|||	710	0.141773	0.2057	0.0591	5008	,	,		14813	0.1617		0.1143	False		,,,				2504	0.1217				p.R1840W		Atlas-SNP	.											.	FREM2	385	.	0			c.C5518T						PASS	.	C	TRP/ARG	949,3457	358.9+/-314.6	100,749,1354	131	108	116		5518	3.3	0.2	13	dbSNP_119	116	1040,7560	220.9+/-258.5	60,920,3320	yes	missense	FREM2	NM_207361.4	101	160,1669,4674	TT,TC,CC		12.093,21.5388,15.2929	probably-damaging	1840/3170	39343822	1989,11017	2203	4300	6503	SO:0001583	missense	341640	exon4			CGAGTGCGGATCC	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5518C>T	13.37:g.39343822C>T	ENSP00000280481:p.Arg1840Trp	Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	256	107	0.417969	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	312	0.14285714285714285	112	0.22764227642276422	24	0.06629834254143646	84	0.14685314685314685	92	0.12137203166226913	C	11.76	1.735572	0.30774	0.215388	0.12093	ENSG00000150893	ENST00000280481	T	0.30981	1.51	5.01	3.29	0.37713	Na-Ca exchanger/integrin-beta4 (2);	0.065177	0.64402	D	0.000008	T	0.00039	0.0001	M	0.87180	2.865	0.19300	P	0.9999752728	D	0.89917	1.0	D	0.76575	0.988	T	0.04440	-1.0951	9	0.38643	T	0.18	.	8.4587	0.32915	0.2741:0.6538:0.0:0.0721	rs9603422;rs52793831;rs9603422	1840	Q5SZK8	FREM2_HUMAN	W	1840	ENSP00000280481:R1840W	ENSP00000280481:R1840W	R	+	1	2	FREM2	38241822	0.972000	0.33761	0.160000	0.22671	0.035000	0.12851	0.845000	0.27668	0.538000	0.28769	-0.942000	0.02676	CGG	C|0.848;T|0.152	0.152	strong		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39343822	C	T	39343822	3	4	22	1	0	0	0	0	1	0	0	0	6045	759	27	1	5532	1	FREM2	13	39343822	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78264	39343822	75826056	7152	12260										
FREM2	341640	hgsc.bcm.edu	37	chr13	39422624	39422624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagactatgtgggcatcagcCgtaatttagattttgcacct	9	9	1	2	rs9548505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39422624C>T	ENST00000280481.7	+	8	6412	c.6196C>T	c.(6196-6198)Cgt>Tgt	p.R2066C	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2066	Calx-beta 3.		R -> C (in dbSNP:rs9548505). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGCATCAGCCGTAATTTAGA	0.378													C|||	549	0.109625	0.1445	0.2522	5008	,	,		15477	0.001		0.0895	False		,,,				2504	0.0941				p.R2066C		Atlas-SNP	.											.	FREM2	385	.	0			c.C6196T						PASS	.	C	CYS/ARG	624,3782	272.5+/-270.8	46,532,1625	146	142	144		6196	5.7	0.8	13	dbSNP_119	144	938,7662	208.0+/-249.6	67,804,3429	yes	missense	FREM2	NM_207361.4	180	113,1336,5054	TT,TC,CC		10.907,14.1625,12.0098	probably-damaging	2066/3170	39422624	1562,11444	2203	4300	6503	SO:0001583	missense	341640	exon8			ATCAGCCGTAATT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6196C>T	13.37:g.39422624C>T	ENSP00000280481:p.Arg2066Cys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	128	72	0.5625	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	190	0.08699633699633699	61	0.12398373983739837	73	0.20165745856353592	1	0.0017482517482517483	55	0.07255936675461741	C	25.2	4.614809	0.87359	0.141625	0.10907	ENSG00000150893	ENST00000280481	T	0.27557	1.66	5.66	5.66	0.87406	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.00109	0.0003	M	0.86028	2.79	0.09310	P	0.9999999980019	D;D	0.76494	0.999;0.999	P;D	0.64595	0.906;0.927	T	0.00114	-1.2041	9	0.72032	D	0.01	.	19.7538	0.96281	0.0:1.0:0.0:0.0	rs9548505;rs52831056;rs59917479;rs9548505	2066;2066	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2066	ENSP00000280481:R2066C	ENSP00000280481:R2066C	R	+	1	0	FREM2	38320624	1.000000	0.71417	0.774000	0.31636	0.993000	0.82548	4.804000	0.62554	2.690000	0.91761	0.655000	0.94253	CGT	C|0.894;G|0.000;T|0.106	0.106	strong		0.378	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39422624	C	T	39422624	3	4	22	1	0	0	0	0	1	0	0	0	6045	652	23	1	6226	1	FREM2	13	39422624	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78802	39422624	75747254	7153	12261										
FREM2	341640	hgsc.bcm.edu	37	chr13	39424253	39424253	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttacaatgatccataggaCtggggatgtccagtacagat					rs35252750|rs9548506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39424253C>G	ENST00000280481.7	+	9	6674	c.6458C>G	c.(6457-6459)aCt>aGt	p.T2153S	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2153	Calx-beta 4.		T -> S (in dbSNP:rs9548506). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCATAGGACTGGGGATGTC	0.458													G|||	460	0.091853	0.0802	0.2478	5008	,	,		19704	0.001		0.0885	False		,,,				2504	0.0941				p.T2153S		Atlas-SNP	.											.	FREM2	385	.	0			c.C6458G						PASS	.	G	SER/THR	8,4398		3,2,2198	122	110	114		6458	3.1	0.8	13	dbSNP_119	114	22,8578		4,14,4282	yes	missense	FREM2	NM_207361.4	58	7,16,6480	GG,GC,CC		0.2558,0.1816,0.2307	benign	2153/3170	39424253	30,12976	2203	4300	6503	SO:0001583	missense	341640	exon9			ATAGGACTGGGGA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6458C>G	13.37:g.39424253C>G	ENSP00000280481:p.Thr2153Ser	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	95	48	0.505263	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	125	0.05723443223443223	27	0.054878048780487805	62	0.1712707182320442	1	0.0017482517482517483	35	0.04617414248021108	G	0.174	-1.069032	0.01918	0.001816	0.002558	ENSG00000150893	ENST00000280481	T	0.29917	1.55	5.79	3.13	0.36017	Na-Ca exchanger/integrin-beta4 (2);	0.091594	0.85682	N	0.000000	T	0.00039	0.0001	N	0.00991	-1.07	0.54753	P	1.7000000000044757E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36480	-0.9746	9	0.02654	T	1	.	8.9843	0.35983	0.1235:0.2282:0.6482:0.0	rs9548506;rs9548506	2153;2153	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	S	2153	ENSP00000280481:T2153S	ENSP00000280481:T2153S	T	+	2	0	FREM2	38322253	1.000000	0.71417	0.751000	0.31187	0.013000	0.08279	3.496000	0.53288	0.100000	0.17581	-0.120000	0.15030	ACT	C|0.913;G|0.087	0.087	strong		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39424253	C	G	39424253	3	3	22	1	0	0	0	0	1	0	0	0	6045	565	20	4	6492	4	FREM2	13	39424253	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1629	39424253	75745625	7154	12262	256	2								
FREM2	341640	hgsc.bcm.edu	37	chr13	39424254	39424254	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttacaatgatccataggacTggggatgtccagtacagatc					rs35252750|rs9548507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39424254T>C	ENST00000280481.7	+	9	6675	c.6459T>C	c.(6457-6459)acT>acC	p.T2153T	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2153	Calx-beta 4.		T -> S (in dbSNP:rs9548506). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCATAGGACTGGGGATGTCC	0.453													C|||	460	0.091853	0.0802	0.2478	5008	,	,		19720	0.001		0.0885	False		,,,				2504	0.0941				p.T2153T		Atlas-SNP	.											.	FREM2	385	.	0			c.T6459C						PASS	.	C		4,4402		2,0,2201	122	110	114		6459	-2.7	0.7	13	dbSNP_119	114	22,8578		5,12,4283	no	coding-synonymous	FREM2	NM_207361.4		7,12,6484	CC,CT,TT		0.2558,0.0908,0.1999		2153/3170	39424254	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	341640	exon9			TAGGACTGGGGAT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6459T>C	13.37:g.39424254T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	94	48	0.510638	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			T|0.912;C|0.088	0.088	strong		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39424254	T	C	39424254	2	2	22	1	0	0	0	0	0	0	0	1	6045	1567	55	3		3	FREM2	13	39424254	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	39424254	75745624	7155	12263	256	2								
C13orf23	80209	hgsc.bcm.edu	37	chr13	39586343	39586343	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctggaaaaacagaactGcctgcagcttgaagtccaga	11	10	0	3	rs9576697	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39586343G>C	ENST00000352251.3	-	12	3422	c.2589C>G	c.(2587-2589)ggC>ggG	p.G863G	PROSER1_ENST00000350125.3_Silent_p.G841G|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	863																	AAACAGAACTGCCTGCAGCTT	0.413													G|||	1124	0.224441	0.2511	0.1599	5008	,	,		17836	0.2183		0.162	False		,,,				2504	0.3047				p.G863G		Atlas-SNP	.											.	.	.	.	0			c.C2589G						PASS	.	G	,	1093,3313	391.0+/-327.9	117,859,1227	130	147	141		2589,2523	2.7	1	13	dbSNP_119	141	1209,7391	242.9+/-272.7	92,1025,3183	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	209,1884,4410	CC,CG,GG		14.0581,24.8071,17.6995	,	863/945,841/923	39586343	2302,10704	2203	4300	6503	SO:0001819	synonymous_variant	80209	exon12			AGAACTGCCTGCA	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2589C>G	13.37:g.39586343G>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	170	83	0.488235	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			G|0.818;C|0.182	0.182	strong		0.413	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		C	39586343	G	C	39586343	2	2	22	1	0	0	0	0	0	0	0	1	1721	1306	46	4		4	C13orf23	13	39586343	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	162089	39586343	75583535	7156	12264										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39587677	39587677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagccacagctaactggcActgacgtggaagctgatgca	13	10	0	2	rs3751379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39587677A>G	ENST00000352251.3	-	11	2545	c.1712T>C	c.(1711-1713)gTg>gCg	p.V571A	PROSER1_ENST00000350125.3_Missense_Mutation_p.V549A|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	571	Ser-rich.		V -> A (in dbSNP:rs3751379). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.														GCTAACTGGCACTGACGTGGA	0.562													G|||	1407	0.28095	0.4463	0.1801	5008	,	,		21158	0.2183		0.17	False		,,,				2504	0.3078				p.V571A		Atlas-SNP	.											.	.	.	.	0			c.T1712C						PASS	.	G	ALA/VAL,ALA/VAL	1902,2504	627.4+/-394.9	393,1116,694	88	92	90		1712,1646	-1.6	0	13	dbSNP_107	90	1282,7318	759.3+/-407.5	103,1076,3121	yes	missense,missense	PROSER1	NM_025138.3,NM_170719.2	64,64	496,2192,3815	GG,GA,AA		14.907,43.1684,24.481	benign,benign	571/945,549/923	39587677	3184,9822	2203	4300	6503	SO:0001583	missense	80209	exon11			ACTGGCACTGACG	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1712T>C	13.37:g.39587677A>G	ENSP00000332034:p.Val571Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	99	55	0.555556	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	551	0.2522893772893773	222	0.45121951219512196	72	0.19889502762430938	127	0.22202797202797203	130	0.17150395778364116	G	2.517	-0.311523	0.05422	0.431684	0.14907	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.32515	1.45;1.46	5.05	-1.6	0.08426	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49153	-0.8969	7	.	.	.	0.7186	6.6741	0.23083	0.5677:0.2225:0.2098:0.0	rs3751379;rs17846511;rs17859582;rs60335909;rs3751379	549;571	A6NJ97;Q86XN7	.;PRSR1_HUMAN	A	571;549	ENSP00000332034:V571A;ENSP00000339123:V549A	.	V	-	2	0	PROSER1	38485677	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.098000	0.15189	-0.788000	0.04504	-1.163000	0.01768	GTG	G|0.254;N|0.000	0.254	strong		0.562	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		G	39587677	A	G	39587677	3	3	22	1	0	0	0	0	1	0	0	0	1721	159	6	2	1134	2	C13orf23	13	39587677	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1334	39587677	75582201	7157	12265										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39587865	39587865	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggctgaagcagaagagtcAgagttctgaagagtaagaga	16	4	2	7	rs3751378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39587865A>C	ENST00000352251.3	-	11	2357	c.1524T>G	c.(1522-1524)tcT>tcG	p.S508S	PROSER1_ENST00000350125.3_Silent_p.S486S|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	508	Ser-rich.																CAGAAGAGTCAGAGTTCTGAA	0.512													A|||	1117	0.223043	0.2458	0.1599	5008	,	,		20185	0.2183		0.162	False		,,,				2504	0.3047				p.S508S		Atlas-SNP	.											C13orf23,NS,carcinoma,-1,1	.	.	1	0			c.T1524G						PASS	.	A	,	1073,3333	389.8+/-327.4	114,845,1244	79	77	78		1524,1458	-10.2	0	13	dbSNP_107	78	1209,7391	244.9+/-273.9	91,1027,3182	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	205,1872,4426	CC,CA,AA		14.0581,24.3532,17.5457	,	508/945,486/923	39587865	2282,10724	2203	4300	6503	SO:0001819	synonymous_variant	80209	exon11			AGAGTCAGAGTTC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1524T>G	13.37:g.39587865A>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	152	70	0.460526	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			A|0.810;C|0.190	0.190	strong		0.512	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		C	39587865	A	C	39587865	2	2	22	1	0	0	0	0	0	0	0	1	1721	175	7	5		5	C13orf23	13	39587865	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	188	39587865	75582013	7158	12266										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39587889	39587889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgaagagtaagagaagaTagtgaagccagcccacttgt	11	7	1	5	rs3751377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39587889T>C	ENST00000352251.3	-	11	2333	c.1500A>G	c.(1498-1500)ctA>ctG	p.L500L	PROSER1_ENST00000350125.3_Silent_p.L478L|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	500	Ser-rich.																TAAGAGAAGATAGTGAAGCCA	0.473													T|||	1117	0.223043	0.2458	0.1599	5008	,	,		21247	0.2183		0.162	False		,,,				2504	0.3047				p.L500L		Atlas-SNP	.											.	.	.	.	0			c.A1500G						PASS	.	T	,	1076,3330	390.5+/-327.7	117,842,1244	86	83	84		1500,1434	-10.5	0	13	dbSNP_107	84	1205,7395	244.4+/-273.7	90,1025,3185	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	207,1867,4429	CC,CT,TT		14.0116,24.4212,17.5381	,	500/945,478/923	39587889	2281,10725	2203	4300	6503	SO:0001819	synonymous_variant	80209	exon11			AGAAGATAGTGAA	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1500A>G	13.37:g.39587889T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	117	53	0.452991	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			T|0.809;C|0.191	0.191	strong		0.473	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		C	39587889	T	C	39587889	2	2	22	1	0	0	0	0	0	0	0	1	1721	1393	49	2		2	C13orf23	13	39587889	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24	39587889	75581989	7159	12267										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39603498	39603498	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaccacttctgttggctgGacagccaccattttctgttg	9	11	2	1	rs61737582	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:39603498G>A	ENST00000352251.3	-	4	1028	c.195C>T	c.(193-195)gtC>gtT	p.V65V	PROSER1_ENST00000350125.3_Silent_p.V43V	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	65																	CTGTTGGCTGGACAGCCACCA	0.318													G|||	457	0.091254	0.0855	0.1095	5008	,	,		15384	0.0903		0.0586	False		,,,				2504	0.1207				p.V65V		Atlas-SNP	.											C13orf23,NS,carcinoma,-2,1	.	.	1	0			c.C195T						PASS	.	G	,	214,3394		4,206,1594	72	71	71		195,129	0	1	13	dbSNP_129	71	525,7617		16,493,3562	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	20,699,5156	AA,AG,GG		6.448,5.9313,6.2894	,	65/945,43/923	39603498	739,11011	1804	4071	5875	SO:0001819	synonymous_variant	80209	exon4			TGGCTGGACAGCC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.195C>T	13.37:g.39603498G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	119	83	0.697479	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			G|0.921;A|0.079	0.079	strong		0.318	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39603498	G	A	39603498	2	1	22	1	0	0	0	0	0	0	0	1	1721	1161	41	2		2	C13orf23	13	39603498	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15609	39603498	75566380	7160	12268										
LHFP	10186	hgsc.bcm.edu	37	chr13	40175311	40175311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcacaaagaaaagacaGcaaagcccagattactccag	9	11	0	3	rs34616166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:40175311G>A	ENST00000379589.3	-	2	505	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	15						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGAAAAGACAGCAAAGCCCAG	0.537			T	HMGA2	lipoma								G|||	341	0.0680911	0.2466	0.0159	5008	,	,		20157	0.0		0.004	False		,,,				2504	0.0				p.L15L		Atlas-SNP	.		Dom	yes		13	13q12	10186	lipoma HMGIC fusion partner		M	.	LHFP	31	.	0			c.C43T						PASS	.	G		827,3579	318.0+/-295.4	77,673,1453	66	59	61		43	5.4	1	13	dbSNP_126	61	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	LHFP	NM_005780.2		77,683,5743	AA,AG,GG		0.1163,18.7699,6.4355		15/201	40175311	837,12169	2203	4300	6503	SO:0001819	synonymous_variant	10186	exon2			AAGACAGCAAAGC	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.43C>T	13.37:g.40175311G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	123	70	0.569106	NM_005780	B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	CCDS9369.1																																																																																			G|0.941;A|0.059	0.059	strong		0.537	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		A	40175311	G	A	40175311	2	1	22	1	0	0	0	0	0	0	0	1	8763	962	34	2		2	LHFP	13	40175311	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	571813	40175311	74994567	7161	12269										
COG6	57511	hgsc.bcm.edu	37	chr13	40229891	40229891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcagcggggaagtggtcGcagtgtctgcgaccggggct	20	9	1	0	rs3812882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:40229891G>A	ENST00000455146.3	+	1	78	c.28G>A	c.(28-30)Gca>Aca	p.A10T	COG6_ENST00000416691.1_Missense_Mutation_p.A10T	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	10			A -> T (in dbSNP:rs3812882). {ECO:0000269|PubMed:17974005, ECO:0000269|Ref.6}.		glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GGAAGTGGTCGCAGTGTCTGC	0.687													G|||	2426	0.484425	0.5008	0.5879	5008	,	,		13338	0.4573		0.3777	False		,,,				2504	0.5266				p.A10T		Atlas-SNP	.											.	COG6	49	.	0			c.G28A						PASS	.	G	THR/ALA,THR/ALA	2156,2206		575,1006,600	13	14	14		28,28	2.7	0	13	dbSNP_107	14	3484,5028		840,1804,1612	yes	missense,missense	COG6	NM_001145079.1,NM_020751.2	58,58	1415,2810,2212	AA,AG,GG		40.9305,49.4269,43.8092	possibly-damaging,possibly-damaging	10/616,10/658	40229891	5640,7234	2181	4256	6437	SO:0001583	missense	57511	exon1			GTGGTCGCAGTGT	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.28G>A	13.37:g.40229891G>A	ENSP00000397441:p.Ala10Thr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	84	57	0.678571	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	CCDS9370.1	1021	0.4674908424908425	253	0.5142276422764228	211	0.5828729281767956	262	0.458041958041958	295	0.3891820580474934	G	27.1	4.802264	0.90538	0.494269	0.409305	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.38077	1.16;1.17;1.18	5.52	2.68	0.31781	.	0.801127	0.11428	N	0.565084	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.43686	-0.9376	9	0.23891	T	0.37	-20.1481	4.4269	0.11507	0.0858:0.1523:0.6047:0.1571	rs3812882;rs58038583;rs3812882	31;10	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	T	10;41;10;10	ENSP00000403733:A10T;ENSP00000412877:A10T;ENSP00000397441:A10T	ENSP00000255468:A41T	A	+	1	0	COG6	39127891	0.000000	0.05858	0.003000	0.11579	0.521000	0.34408	-0.010000	0.12743	0.621000	0.30232	0.561000	0.74099	GCA	G|0.525;A|0.475	0.475	strong		0.687	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			A	40229891	G	A	40229891	3	1	22	1	0	0	0	0	1	0	0	0	3662	1087	38	1	30	1	COG6	13	40229891	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54580	40229891	74939987	7162	12270										
COG6	57511	hgsc.bcm.edu	37	chr13	40229957	40229957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggacctcggcgacgaccTgcaacccgctgtcgcgcaag	14	16	0	0	rs3812883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:40229957T>A	ENST00000455146.3	+	1	144	c.94T>A	c.(94-96)Tgc>Agc	p.C32S	COG6_ENST00000416691.1_Missense_Mutation_p.C32S	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	32			C -> S (in dbSNP:rs3812883). {ECO:0000269|PubMed:17974005, ECO:0000269|Ref.6}.		glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GGCGACGACCTGCAACCCGCT	0.677													A|||	2425	0.484225	0.5015	0.5879	5008	,	,		14507	0.4573		0.3767	False		,,,				2504	0.5256				p.C32S		Atlas-SNP	.											.	COG6	49	.	0			c.T94A						PASS	.	A	SER/CYS,SER/CYS	2079,2315		492,1095,610	19	19	19		94,94	3	0	13	dbSNP_107	19	3324,5268		694,1936,1666	yes	missense,missense	COG6	NM_001145079.1,NM_020751.2	112,112	1186,3031,2276	AA,AT,TT		38.6872,47.3145,41.6063	benign,benign	32/616,32/658	40229957	5403,7583	2197	4296	6493	SO:0001583	missense	57511	exon1			ACGACCTGCAACC	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.94T>A	13.37:g.40229957T>A	ENSP00000397441:p.Cys32Ser	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	97	55	0.56701	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	CCDS9370.1	1013	0.46382783882783885	249	0.5060975609756098	210	0.580110497237569	261	0.4562937062937063	293	0.3865435356200528	A	5.269	0.235062	0.09969	0.473145	0.386872	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.32515	1.45;1.71;1.46	5.41	3.0	0.34707	.	0.624277	0.17468	N	0.173170	T	0.00012	0.0000	N	0.01048	-1.04	0.54753	P	1.2000000000012001E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45906	-0.9229	9	0.02654	T	1	-27.9087	2.2529	0.04048	0.5888:0.1751:0.0858:0.1503	rs3812883;rs3812883	53;32	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	S	32;63;32;32	ENSP00000403733:C32S;ENSP00000412877:C32S;ENSP00000397441:C32S	ENSP00000255468:C63S	C	+	1	0	COG6	39127957	0.980000	0.34600	0.016000	0.15963	0.004000	0.04260	2.549000	0.45803	0.056000	0.16144	-0.364000	0.07487	TGC	T|0.567;A|0.433	0.433	strong		0.677	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			A	40229957	T	A	40229957	3	1	22	1	0	0	0	0	1	0	0	0	3662	1580	55	5	96	5	COG6	13	40229957	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66	40229957	74939921	7163	12271										
WBP4	11193	hgsc.bcm.edu	37	chr13	41639377	41639377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcaatggaggcagctgcCctgaaagcataccaagagga	13	10	0	2	rs61740513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:41639377C>T	ENST00000379487.3	+	4	616	c.216C>T	c.(214-216)gcC>gcT	p.A72A	WBP4_ENST00000542082.1_Silent_p.A51A	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	72					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AGGCAGCTGCCCTGAAAGCAT	0.368													C|||	126	0.0251597	0.0908	0.0072	5008	,	,		14418	0.0		0.001	False		,,,				2504	0.0				p.A72A		Atlas-SNP	.											.	WBP4	40	.	0			c.C216T						PASS	.	C		411,3995	201.5+/-224.5	14,383,1806	64	69	67		216	2.8	1	13	dbSNP_129	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WBP4	NM_007187.3		14,385,6104	TT,TC,CC		0.0233,9.3282,3.1755		72/377	41639377	413,12593	2203	4300	6503	SO:0001819	synonymous_variant	11193	exon4			AGCTGCCCTGAAA	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.216C>T	13.37:g.41639377C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	65	37	0.569231	NM_007187	B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	37	CCDS9375.1																																																																																			C|0.967;T|0.033	0.033	strong		0.368	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		T	41639377	C	T	41639377	2	4	22	1	0	0	0	0	0	0	0	1	17258	610	22	2		2	WBP4	13	41639377	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1409420	41639377	73530501	7164	12272										
KBTBD6	89890	hgsc.bcm.edu	37	chr13	41706450	41706450	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggcgtcaccacctcgatGgtcacatcacacagcagccg	9	17	3	0	rs147388453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:41706450G>C	ENST00000379485.1	-	1	432	c.198C>G	c.(196-198)acC>acG	p.T66T	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCACCTCGATGGTCACATCAC	0.607													G|||	43	0.00858626	0.031	0.0014	5008	,	,		18622	0.0		0.001	False		,,,				2504	0.0				p.T66T		Atlas-SNP	.											.	KBTBD6	83	.	0			c.C198G						PASS	.	G		152,4254	104.7+/-143.2	0,152,2051	89	89	89		198	3.7	1	13	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KBTBD6	NM_152903.4		0,153,6350	CC,CG,GG		0.0116,3.4498,1.1764		66/675	41706450	153,12853	2203	4300	6503	SO:0001819	synonymous_variant	89890	exon1			CTCGATGGTCACA	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.198C>G	13.37:g.41706450G>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	71	40	0.56338	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	CCDS9376.1																																																																																			G|0.988;C|0.012	0.012	strong		0.607	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41706450	G	C	41706450	2	2	22	1	0	0	0	0	0	0	0	1	7997	1335	47	4		4	KBTBD6	13	41706450	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67073	41706450	73463428	7165	12273										
NAA16	79612	hgsc.bcm.edu	37	chr13	41929296	41929296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggtttctataatccaggAacttgttactaattatgaag	7	6	1	1	rs17062054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:41929296A>G	ENST00000379406.3	+	10	1355	c.1031A>G	c.(1030-1032)gAa>gGa	p.E344G	NAA16_ENST00000379367.3_Missense_Mutation_p.E344G|RNU6-57P_ENST00000411348.1_RNA|NAA16_ENST00000403412.3_Missense_Mutation_p.E344G	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	344			E -> G (in dbSNP:rs17062054).		N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATAATCCAGGAACTTGTTACT	0.254													A|||	379	0.0756789	0.2723	0.0259	5008	,	,		14616	0.0		0.001	False		,,,				2504	0.0				p.E344G		Atlas-SNP	.											.	NAA16	74	.	0			c.A1031G						PASS	.	A	GLY/GLU,,GLY/GLU	1062,3342	336.3+/-304.3	129,804,1269	92	103	99		1031,924,1031	5.2	1	13	dbSNP_123	99	17,8567	6.4+/-24.3	0,17,4275	yes	missense,coding-synonymous,missense	NAA16	NM_001110798.1,NM_018527.3,NM_024561.4	98,,98	129,821,5544	GG,GA,AA		0.198,24.1144,8.3077	possibly-damaging,,possibly-damaging	344/430,308/312,344/865	41929296	1079,11909	2202	4292	6494	SO:0001583	missense	79612	exon10			TCCAGGAACTTGT	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1031A>G	13.37:g.41929296A>G	ENSP00000368716:p.Glu344Gly	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	36	13	0.361111	NM_001110798	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	122	0.055860805860805864	111	0.22560975609756098	11	0.03038674033149171	0	0.0	0	0.0	A	20.6	4.024646	0.75390	0.241144	0.00198	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.50001	0.76;0.76;0.76	5.23	5.23	0.72850	.	0.074309	0.56097	D	0.000039	T	0.00039	0.0001	.	.	.	0.18873	P	0.9999871049	P;P	0.48640	0.866;0.913	P;P	0.57548	0.61;0.823	T	0.00814	-1.1555	8	0.72032	D	0.01	-14.8273	15.0951	0.72226	1.0:0.0:0.0:0.0	rs17062054;rs52827917;rs59013357;rs17062054	344;344	Q6N069;Q6N069-4	NAA16_HUMAN;.	G	344	ENSP00000368674:E344G;ENSP00000368716:E344G;ENSP00000386103:E344G	ENSP00000368674:E344G	E	+	2	0	NAA16	40827296	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.480000	0.81109	1.980000	0.57719	0.533000	0.62120	GAA	A|0.919;G|0.081	0.081	strong		0.254	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		G	41929296	A	G	41929296	3	3	22	1	0	0	0	0	1	0	0	0	10119	246	9	2	1069	2	NAA16	13	41929296	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	222846	41929296	73240582	7166	12274										
C13orf15	28984	hgsc.bcm.edu	37	chr13	42032572	42032572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcggcgcagcagcgccagTgtcagcgacagcagcggctt	15	13	1	0	rs7136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42032572T>C	ENST00000379359.3	+	2	350	c.201T>C	c.(199-201)agT>agC	p.S67S		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	67	Ser/Thr-rich.				cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)										GCAGCGCCAGTGTCAGCGACA	0.682													.|||	2788	0.556709	0.7829	0.5447	5008	,	,		14651	0.6766		0.3946	False		,,,				2504	0.3027				p.S67S		Atlas-SNP	.											.	.	.	.	0			c.T201C						PASS	.	C		2432,1322		809,814,254	8	9	9		201	3.6	1	13	dbSNP_52	9	3009,5139		592,1825,1657	no	coding-synonymous	C13orf15	NM_014059.2		1401,2639,1911	CC,CT,TT		36.9293,35.2158,45.715		67/138	42032572	5441,6461	1877	4074	5951	SO:0001819	synonymous_variant	28984	exon2			CGCCAGTGTCAGC	AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"response gene to complement 32"	610077	"chromosome 13 open reading frame 15"	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.201T>C	13.37:g.42032572T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	39	17	0.435897	NM_014059	Q6NZ48|Q9UL69	Silent	SNP	ENST00000379359.3	37	CCDS41880.1																																																																																			T|0.426;C|0.574	0.574	strong		0.682	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059		C	42032572	T	C	42032572	2	2	22	1	0	0	0	0	0	0	0	1	1718	1693	59	2		2	C13orf15	13	42032572	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	103276	42032572	73137306	7167	12275										
KIAA0564	23078	hgsc.bcm.edu	37	chr13	42404710	42404710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgcagctcctcctttaaaCgcatatacctgtcttctctc	5	14	2	0	rs41288297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42404710C>T	ENST00000379310.3	-	14	1723	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	VWA8_ENST00000281496.6_Missense_Mutation_p.R552H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	552						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTCCTTTAAACGCATATACCT	0.378													C|||	227	0.0453275	0.087	0.0389	5008	,	,		16008	0.0		0.0417	False		,,,				2504	0.044				p.R552H		Atlas-SNP	.											.	.	.	.	0			c.G1655A						PASS	.	C	HIS/ARG,HIS/ARG	396,4010	197.4+/-221.5	28,340,1835	115	111	112		1655,1655	2.3	0	13	dbSNP_127	112	438,8162	133.6+/-191.1	13,412,3875	yes	missense,missense	KIAA0564	NM_001009814.1,NM_015058.1	29,29	41,752,5710	TT,TC,CC		5.093,8.9877,6.4124	benign,benign	552/1040,552/1906	42404710	834,12172	2203	4300	6503	SO:0001583	missense	23078	exon14			TTTAAACGCATAT	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1655G>A	13.37:g.42404710C>T	ENSP00000368612:p.Arg552His	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	15	0.365854	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	72	0.03296703296703297	32	0.06504065040650407	11	0.03038674033149171	0	0.0	29	0.03825857519788918	C	12.11	1.840629	0.32513	0.089877	0.05093	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.12039	2.92;2.72	6.06	2.3	0.28687	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.620900	0.17234	N	0.181819	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.38090	-0.9677	10	0.39692	T	0.17	.	4.2991	0.10916	0.1533:0.4749:0.0:0.3718	rs41288297;rs57164625;rs61743604	552	A3KMH1	K0564_HUMAN	H	456;552;552	ENSP00000368612:R552H;ENSP00000281496:R552H	ENSP00000251030:R456H	R	-	2	0	KIAA0564	41302710	0.001000	0.12720	0.002000	0.10522	0.947000	0.59692	0.837000	0.27558	0.904000	0.36572	-0.133000	0.14855	CGT	C|0.947;T|0.053	0.053	strong		0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42404710	C	T	42404710	3	4	22	1	0	0	0	0	1	0	0	0	8185	536	19	1	4194	1	KIAA0564	13	42404710	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	372138	42404710	72765168	7168	12276										
KIAA0564	23078	hgsc.bcm.edu	37	chr13	42442546	42442546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgggacacatggttttccAtcatcttctctacttttaca	5	11	3	0	rs3742262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42442546A>G	ENST00000379310.3	-	10	1216	c.1148T>C	c.(1147-1149)aTg>aCg	p.M383T	VWA8_ENST00000281496.6_Missense_Mutation_p.M383T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	383			M -> T (in dbSNP:rs3742262). {ECO:0000269|PubMed:17974005}.			extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATGGTTTTCCATCATCTTCTC	0.358													A|||	1113	0.222244	0.056	0.3026	5008	,	,		17551	0.1895		0.3231	False		,,,				2504	0.32				p.M383T		Atlas-SNP	.											.	.	.	.	0			c.T1148C						PASS	.	A	THR/MET,THR/MET	381,4025	191.2+/-216.9	10,361,1832	145	130	135		1148,1148	0.9	0	13	dbSNP_107	135	2773,5827	440.8+/-359.6	453,1867,1980	yes	missense,missense	KIAA0564	NM_001009814.1,NM_015058.1	81,81	463,2228,3812	GG,GA,AA		32.2442,8.6473,24.2503	benign,benign	383/1040,383/1906	42442546	3154,9852	2203	4300	6503	SO:0001583	missense	23078	exon10			TTTTCCATCATCT	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1148T>C	13.37:g.42442546A>G	ENSP00000368612:p.Met383Thr	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	181	95	0.524862	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	523	0.23946886446886448	32	0.06504065040650407	116	0.32044198895027626	121	0.21153846153846154	254	0.33509234828496043	A	0.004	-2.267391	0.00259	0.086473	0.322442	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.10192	3.09;2.9	4.63	0.953	0.19590	.	0.927533	0.09044	N	0.856935	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47611	-0.9104	9	0.13853	T	0.58	.	5.1762	0.15137	0.2184:0.0:0.4149:0.3667	rs3742262;rs17534800;rs60079135;rs3742262	383	A3KMH1	K0564_HUMAN	T	287;383;383;383	ENSP00000368612:M383T;ENSP00000281496:M383T	ENSP00000251030:M287T	M	-	2	0	KIAA0564	41340546	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.140000	0.16056	0.025000	0.15241	-0.147000	0.13772	ATG	A|0.760;G|0.240	0.240	strong		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42442546	A	G	42442546	3	3	22	1	0	0	0	0	1	0	0	0	8185	217	8	2	4717	2	KIAA0564	13	42442546	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37836	42442546	72727332	7169	12277										
KIAA0564	23078	hgsc.bcm.edu	37	chr13	42465713	42465713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgccttctgtggctgcaCgaactgcacactatttccaa	7	13	2	0	rs9562362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42465713C>T	ENST00000379310.3	-	5	562	c.494G>A	c.(493-495)cGt>cAt	p.R165H	VWA8_ENST00000281496.6_Missense_Mutation_p.R165H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	165			R -> H (in dbSNP:rs9562362).			extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTGGCTGCACGAACTGCACA	0.398													C|||	1012	0.202077	0.0151	0.2954	5008	,	,		20968	0.1786		0.3171	False		,,,				2504	0.2945				p.R165H		Atlas-SNP	.											.	.	.	.	0			c.G494A						PASS	.	C	HIS/ARG,HIS/ARG	262,4144	147.3+/-181.8	4,254,1945	77	69	72		494,494	5.7	1	13	dbSNP_119	72	2737,5863	436.9+/-358.5	439,1859,2002	yes	missense,missense	KIAA0564	NM_001009814.1,NM_015058.1	29,29	443,2113,3947	TT,TC,CC		31.8256,5.9464,23.0586	probably-damaging,probably-damaging	165/1040,165/1906	42465713	2999,10007	2203	4300	6503	SO:0001583	missense	23078	exon5			GCTGCACGAACTG	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.494G>A	13.37:g.42465713C>T	ENSP00000368612:p.Arg165His	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	488	0.22344322344322345	10	0.02032520325203252	114	0.3149171270718232	115	0.20104895104895104	249	0.32849604221635886	C	36	5.662997	0.96745	0.059464	0.318256	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.59083	0.29;0.29	5.71	5.71	0.89125	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	M	0.92077	3.27	0.09310	P	0.999999999480994	D	0.61080	0.989	P	0.58077	0.832	T	0.00756	-1.1579	9	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	rs9562362;rs17534916;rs52826154;rs60454473;rs9562362	165	A3KMH1	K0564_HUMAN	H	69;165;165;165	ENSP00000368612:R165H;ENSP00000281496:R165H	ENSP00000251030:R69H	R	-	2	0	KIAA0564	41363713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.536000	0.82023	2.861000	0.98227	0.650000	0.86243	CGT	C|0.775;T|0.225	0.225	strong		0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42465713	C	T	42465713	3	4	22	1	0	0	0	0	1	0	0	0	8185	536	19	1	5391	1	KIAA0564	13	42465713	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23167	42465713	72704165	7170	12278										
DGKH	160851	hgsc.bcm.edu	37	chr13	42772717	42772717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacgccgtttattgacccGgatctagattccgtgtaaga	10	11	1	3	rs9533031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42772717G>T	ENST00000337343.4	+	18	2292	c.2271G>T	c.(2269-2271)ccG>ccT	p.P757P	DGKH_ENST00000379274.2_Silent_p.P621P|DGKH_ENST00000540693.1_Silent_p.P757P|DGKH_ENST00000261491.5_Silent_p.P757P|DGKH_ENST00000538674.1_Silent_p.P512P|DGKH_ENST00000536612.1_Silent_p.P621P|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	757					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTATTGACCCGGATCTAGATT	0.358													G|||	2012	0.401757	0.3608	0.3876	5008	,	,		18660	0.3492		0.5606	False		,,,				2504	0.3579				p.P757P		Atlas-SNP	.											.	DGKH	106	.	0			c.G2271T						PASS	.	G	,,,,	1816,2590	530.9+/-373.1	359,1098,746	135	126	129		2271,1863,1863,2271,2271	-9.1	0.7	13	dbSNP_119	129	4923,3677	621.5+/-397.2	1412,2099,789	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DGKH	NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3	,,,,	1771,3197,1535	TT,TG,GG		42.7558,41.2165,48.1855	,,,,	757/1165,621/1101,621/1085,757/1165,757/1221	42772717	6739,6267	2203	4300	6503	SO:0001819	synonymous_variant	160851	exon19			TGACCCGGATCTA	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2271G>T	13.37:g.42772717G>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_001204504	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	CCDS9381.1																																																																																			G|0.519;T|0.481	0.481	strong		0.358	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		T	42772717	G	T	42772717	2	4	22	1	0	0	0	0	0	0	0	1	4470	1103	39	4		4	DGKH	13	42772717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	307004	42772717	72397161	7171	12279										
DGKH	160851	hgsc.bcm.edu	37	chr13	42793479	42793479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatatcttacacccaaatgaGgatgaggtatgtaaaattca	7	6	2	2	rs180870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42793479G>A	ENST00000337343.4	+	27	3348	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E	DGKH_ENST00000379274.2_Silent_p.E973E|DGKH_ENST00000540693.1_Silent_p.E1109E|DGKH_ENST00000261491.5_Silent_p.E1109E|DGKH_ENST00000538674.1_Silent_p.E864E|DGKH_ENST00000536612.1_Silent_p.E973E|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1109					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACCCAAATGAGGATGAGGTAT	0.363													G|||	3139	0.626797	0.5976	0.634	5008	,	,		17423	0.7341		0.6879	False		,,,				2504	0.4877				p.E1109E		Atlas-SNP	.											.	DGKH	106	.	0			c.G3327A						PASS	.	G	,,,,	2711,1695	653.5+/-399.6	836,1039,328	130	137	135		3327,2919,2919,3327,3327	1	1	13	dbSNP_79	135	5877,2723	680.7+/-403.7	2021,1835,444	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DGKH	NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3	,,,,	2857,2874,772	AA,AG,GG		31.6628,38.4703,33.9689	,,,,	1109/1165,973/1101,973/1085,1109/1165,1109/1221	42793479	8588,4418	2203	4300	6503	SO:0001819	synonymous_variant	160851	exon28			AAATGAGGATGAG	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3327G>A	13.37:g.42793479G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	112	0.982456	NM_001204504	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	CCDS9381.1																																																																																			G|0.337;A|0.663	0.663	strong		0.363	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		A	42793479	G	A	42793479	2	1	22	1	0	0	0	0	0	0	0	1	4470	991	35	2		2	DGKH	13	42793479	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20762	42793479	72376399	7172	12280										
AKAP11	11215	hgsc.bcm.edu	37	chr13	42876290	42876290	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagagtttgcacctgctacAccaccttctactccacacaa	4	15	1	1	rs41288311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42876290A>C	ENST00000025301.2	+	8	3583	c.3408A>C	c.(3406-3408)acA>acC	p.T1136T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1136					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CACCTGCTACACCACCTTCTA	0.408													A|||	357	0.0712859	0.1233	0.0576	5008	,	,		20338	0.002		0.1252	False		,,,				2504	0.0266				p.T1136T		Atlas-SNP	.											.	AKAP11	146	.	0			c.A3408C						PASS	.	A		568,3838	247.2+/-255.5	40,488,1675	101	108	106		3408	-0.2	1	13	dbSNP_127	106	1119,7481	231.7+/-265.6	85,949,3266	no	coding-synonymous	AKAP11	NM_016248.3		125,1437,4941	CC,CA,AA		13.0116,12.8915,12.9709		1136/1902	42876290	1687,11319	2203	4300	6503	SO:0001819	synonymous_variant	11215	exon8			TGCTACACCACCT	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3408A>C	13.37:g.42876290A>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	188	100	0.531915	NM_016248	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																			A|0.882;C|0.118	0.118	strong		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		C	42876290	A	C	42876290	2	2	22	1	0	0	0	0	0	0	0	1	447	146	6	5		5	AKAP11	13	42876290	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82811	42876290	72293588	7173	12281										
AKAP11	11215	hgsc.bcm.edu	37	chr13	42876996	42876996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagtatgccaataggcttGcctaccgatctgttaaatca	7	10	3	0	rs114980445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:42876996G>A	ENST00000025301.2	+	8	4289	c.4114G>A	c.(4114-4116)Gcc>Acc	p.A1372T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1372					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAATAGGCTTGCCTACCGATC	0.413													G|||	22	0.00439297	0.0144	0.0043	5008	,	,		21346	0.0		0.0	False		,,,				2504	0.0				p.A1372T		Atlas-SNP	.											.	AKAP11	146	.	0			c.G4114A						PASS	.	G	THR/ALA	79,4327	69.8+/-107.6	0,79,2124	88	82	84		4114	6.2	1	13	dbSNP_132	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	AKAP11	NM_016248.3	58	0,80,6423	AA,AG,GG		0.0116,1.793,0.6151	probably-damaging	1372/1902	42876996	80,12926	2203	4300	6503	SO:0001583	missense	11215	exon8			AGGCTTGCCTACC	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4114G>A	13.37:g.42876996G>A	ENSP00000025301:p.Ala1372Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	26	0.4	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	G	28.1	4.892258	0.91889	0.01793	1.16E-4	ENSG00000023516	ENST00000025301	T	0.56444	0.46	6.16	6.16	0.99307	.	0.065315	0.64402	D	0.000013	T	0.60287	0.2257	M	0.71581	2.175	0.54753	D	0.999989	D	0.89917	1.0	D	0.72982	0.979	T	0.69194	-0.5209	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1372	Q9UKA4	AKA11_HUMAN	T	1372	ENSP00000025301:A1372T	ENSP00000025301:A1372T	A	+	1	0	AKAP11	41774996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.096000	0.94182	2.937000	0.99478	0.650000	0.86243	GCC	G|0.992;A|0.008	0.008	strong		0.413	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		A	42876996	G	A	42876996	3	1	22	1	0	0	0	0	1	0	0	0	447	1319	46	2	4136	2	AKAP11	13	42876996	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	706	42876996	72292882	7174	12282										
DNAJC15	29103	hgsc.bcm.edu	37	chr13	43597865	43597865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgccgacgtcgaccagcagAgactggtgagtcctgccagc	13	14	0	2	rs12015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:43597865A>G	ENST00000379221.2	+	1	527	c.103A>G	c.(103-105)Aga>Gga	p.R35G	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	35			R -> G (in dbSNP:rs11617079). {ECO:0000269|PubMed:11358853, ECO:0000269|PubMed:15489334}.		cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGACCAGCAGAGACTGGTGAG	0.632													G|||	1181	0.235823	0.4281	0.2219	5008	,	,		8065	0.1002		0.2535	False		,,,				2504	0.1074				p.R35G		Atlas-SNP	.											DNAJC15_ENST00000379221,NS,carcinoma,0,2	DNAJC15	16	2	0			c.A103G						PASS	.	G	GLY/ARG	1795,2609		375,1045,782	19	20	20		103	0.6	0	13	dbSNP_120	20	2062,6538		279,1504,2517	yes	missense	DNAJC15	NM_013238.2	125	654,2549,3299	GG,GA,AA		23.9767,40.7584,29.6601	benign	35/151	43597865	3857,9147	2202	4300	6502	SO:0001583	missense	29103	exon1			CAGCAGAGACTGG	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.103A>G	13.37:g.43597865A>G	ENSP00000368523:p.Arg35Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	101	43	0.425743	NM_013238	B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	ENST00000379221.2	37	CCDS9388.1	521	0.23855311355311357	180	0.36585365853658536	79	0.21823204419889503	65	0.11363636363636363	197	0.2598944591029024	G	5.877	0.345947	0.11126	0.407584	0.239767	ENSG00000120675	ENST00000379221	T	0.44881	0.91	4.56	0.561	0.17285	.	0.816791	0.11028	N	0.607571	T	0.00012	0.0000	N	0.01168	-0.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	9	0.19590	T	0.45	-19.9861	4.356	0.11178	0.4233:0.1645:0.4122:0.0	rs11617079;rs17856341;rs59811457;rs11617079	35	Q9Y5T4	DJC15_HUMAN	G	35	ENSP00000368523:R35G	ENSP00000368523:R35G	R	+	1	2	DNAJC15	42495865	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.682000	0.05185	-0.381000	0.07882	-0.166000	0.13349	AGA	A|0.735;G|0.265	0.265	strong		0.632	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		G	43597865	A	G	43597865	3	3	22	1	0	0	0	0	1	0	0	0	4634	296	11	3	105	3	DNAJC15	13	43597865	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	720869	43597865	71572013	7175	12283										
ENOX1	55068	hgsc.bcm.edu	37	chr13	43987003	43987003	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccatcatctgaggaagCtcctggggaagctgggtgat	15	9	2	2	rs7338624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:43987003C>G	ENST00000261488.6	-	4	625	c.48G>C	c.(46-48)gaG>gaC	p.E16D	ENOX1_ENST00000412891.1_Missense_Mutation_p.E16D	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	16			E -> D (in dbSNP:rs7338624). {ECO:0000269|PubMed:19055324}.		rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCTGAGGAAGCTCCTGGGGAA	0.498													C|||	242	0.0483227	0.1778	0.0101	5008	,	,		16486	0.0		0.0	False		,,,				2504	0.0				p.E16D		Atlas-SNP	.											.	ENOX1	158	.	0			c.G48C						PASS	.	C	ASP/GLU,ASP/GLU,ASP/GLU	677,3729	286.3+/-278.7	49,579,1575	125	111	116		48,48,48	2.9	0.9	13	dbSNP_116	116	9,8591	5.7+/-21.5	0,9,4291	yes	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	45,45,45	49,588,5866	GG,GC,CC		0.1047,15.3654,5.2745	benign,benign,benign	16/644,16/644,16/644	43987003	686,12320	2203	4300	6503	SO:0001583	missense	55068	exon4			AGGAAGCTCCTGG	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.48G>C	13.37:g.43987003C>G	ENSP00000261488:p.Glu16Asp	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_017993	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	78	0.03571428571428571	74	0.15040650406504066	4	0.011049723756906077	0	0.0	0	0.0	C	11.61	1.690096	0.29962	0.153654	0.001047	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.44083	0.93;0.93	5.91	2.88	0.33553	.	0.688144	0.14119	N	0.340181	T	0.00109	0.0003	N	0.08118	0	0.09310	P	0.99999166027	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	9	0.19590	T	0.45	-0.328	2.7291	0.05222	0.2036:0.4159:0.0:0.3805	rs7338624;rs52798713;rs7338624	16	Q8TC92	ENOX1_HUMAN	D	16	ENSP00000261488:E16D;ENSP00000415054:E16D	ENSP00000261488:E16D	E	-	3	2	ENOX1	42885003	0.996000	0.38824	0.871000	0.34182	0.975000	0.68041	1.058000	0.30504	0.842000	0.35045	0.655000	0.94253	GAG	C|0.955;G|0.045	0.045	strong		0.498	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		G	43987003	C	G	43987003	3	3	22	1	0	0	0	0	1	0	0	0	5126	796	28	4	1939	4	ENOX1	13	43987003	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	389138	43987003	71182875	7176	12284										
C13orf31	144811	hgsc.bcm.edu	37	chr13	44457925	44457925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactcatcattccaatgacAtctggattatgggaagaaag	9	7	3	3	rs3764147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:44457925A>G	ENST00000441843.1	+	4	1245	c.760A>G	c.(760-762)Atc>Gtc	p.I254V	LACC1_ENST00000325686.6_Missense_Mutation_p.I254V	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	254			I -> V (in dbSNP:rs3764147). {ECO:0000269|PubMed:14702039}.														TTCCAATGACATCTGGATTAT	0.378													A|||	1532	0.305911	0.3048	0.3646	5008	,	,		15919	0.3472		0.2266	False		,,,				2504	0.3047				p.I254V		Atlas-SNP	.											.	.	.	.	0			c.A760G						PASS	.	A	VAL/ILE,VAL/ILE	1297,3109	437.2+/-344.9	200,897,1106	88	85	86	http://omim.org/entry/613407|http://www.ncbi.nlm.nih.gov/pubmed?term	760,760	1.9	0.8	13	dbSNP_107	86	1981,6619	347.4+/-326.6	236,1509,2555	yes	missense,missense	LACC1	NM_001128303.1,NM_153218.2	29,29	436,2406,3661	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	23.0349,29.4371,25.2038	benign,benign	254/431,254/431	44457925	3278,9728	2203	4300	6503	SO:0001583	missense	144811	exon4			AATGACATCTGGA	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.760A>G	13.37:g.44457925A>G	ENSP00000391747:p.Ile254Val	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	138	61	0.442029	NM_001128303	A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	CCDS9391.1	660	0.3021978021978022	161	0.32723577235772355	134	0.3701657458563536	184	0.32167832167832167	181	0.23878627968337732	A	1.113	-0.657608	0.03454	0.294371	0.230349	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.33216	1.42;1.42	5.7	1.94	0.25998	.	0.235834	0.42548	N	0.000690	T	0.00012	0.0000	N	0.01257	-0.925	0.39694	P	0.028919999999999946	B	0.06786	0.001	B	0.04013	0.001	T	0.47156	-0.9139	9	0.02654	T	1	-11.666	8.8558	0.35227	0.3187:0.0:0.6813:0.0	rs3764147;rs61264110;rs3764147	254	Q8IV20	LACC1_HUMAN	V	254	ENSP00000391747:I254V;ENSP00000317619:I254V	ENSP00000317619:I254V	I	+	1	0	LACC1	43355925	1.000000	0.71417	0.815000	0.32552	0.795000	0.44927	2.664000	0.46783	0.041000	0.15688	-0.242000	0.12053	ATC	A|0.722;G|0.278	0.278	strong		0.378	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		G	44457925	A	G	44457925	3	3	22	1	0	0	0	0	1	0	0	0	1726	217	8	2	770	2	C13orf31	13	44457925	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	470922	44457925	70711953	7177	12285										
TSC22D1	8848	hgsc.bcm.edu	37	chr13	45148257	45148257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtacatactctgaagcagGattttgagtcactgatttga	9	6	2	4	rs9525983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:45148257G>A	ENST00000458659.2	-	1	2444	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	652	Gln-rich.		P -> S (in dbSNP:rs9525983).		negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTGAAGCAGGATTTTGAGTC	0.502													G|||	251	0.0501198	0.0068	0.0922	5008	,	,		22808	0.001		0.1173	False		,,,				2504	0.0603				p.P652S		Atlas-SNP	.											.	TSC22D1	88	.	0			c.C1954T						PASS	.	G	SER/PRO	105,4301	81.4+/-119.9	1,103,2099	108	103	105		1954	1	0	13	dbSNP_119	105	1063,7537	222.2+/-259.3	71,921,3308	yes	missense	TSC22D1	NM_183422.3	74	72,1024,5407	AA,AG,GG		12.3605,2.3831,8.9805	benign	652/1074	45148257	1168,11838	2203	4300	6503	SO:0001583	missense	8848	exon1			AAGCAGGATTTTG	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1954C>T	13.37:g.45148257G>A	ENSP00000397435:p.Pro652Ser	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	159	83	0.522013	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	115	0.052655677655677656	5	0.01016260162601626	19	0.052486187845303865	0	0.0	91	0.12005277044854881	G	0.004	-2.318264	0.00235	0.023831	0.123605	ENSG00000102804	ENST00000458659	T	0.31510	1.49	4.74	0.994	0.19832	.	0.346611	0.25065	N	0.033401	T	0.00178	0.0005	N	0.12746	0.255	0.18873	N	0.999983	B	0.06786	0.001	B	0.06405	0.002	T	0.24621	-1.0155	10	0.06099	T	0.92	.	4.4964	0.11839	0.4158:0.1625:0.4217:0.0	rs9525983;rs52835504;rs60681641;rs9525983	652	Q15714	T22D1_HUMAN	S	652	ENSP00000397435:P652S	ENSP00000397435:P652S	P	-	1	0	TSC22D1	44046257	0.770000	0.28543	0.034000	0.17996	0.868000	0.49771	0.937000	0.28951	0.239000	0.21243	-0.320000	0.08662	CCT	G|0.926;A|0.074	0.074	strong		0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		A	45148257	G	A	45148257	3	1	22	1	0	0	0	0	1	0	0	0	16604	1174	41	2	1408	2	TSC22D1	13	45148257	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	690332	45148257	70021621	7178	12286										
TSC22D1	8848	hgsc.bcm.edu	37	chr13	45149662	45149662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagactgccccaggtgtctcGgcttcctggaagttatttag	12	10	1	1	rs9525984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:45149662G>A	ENST00000458659.2	-	1	1039	c.549C>T	c.(547-549)gcC>gcT	p.A183A	TSC22D1_ENST00000501704.2_Silent_p.A183A|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	183					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAGGTGTCTCGGCTTCCTGGA	0.532													G|||	264	0.0527157	0.0166	0.0937	5008	,	,		19095	0.001		0.1163	False		,,,				2504	0.0603				p.A183A		Atlas-SNP	.											.	TSC22D1	88	.	0			c.C549T						PASS	.	G		142,4264	98.0+/-136.7	1,140,2062	66	70	69		549	-4.1	0.9	13	dbSNP_119	69	1064,7536	223.6+/-260.3	71,922,3307	no	coding-synonymous	TSC22D1	NM_183422.3		72,1062,5369	AA,AG,GG		12.3721,3.2229,9.2726		183/1074	45149662	1206,11800	2203	4300	6503	SO:0001819	synonymous_variant	8848	exon1			TGTCTCGGCTTCC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.549C>T	13.37:g.45149662G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	217	106	0.488479	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	CCDS31966.1																																																																																			G|0.924;A|0.076	0.076	strong		0.532	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		A	45149662	G	A	45149662	2	1	22	1	0	0	0	0	0	0	0	1	16604	1103	39	1		1	TSC22D1	13	45149662	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1405	45149662	70020216	7179	12287										
ZC3H13	23091	hgsc.bcm.edu	37	chr13	46584500	46584500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctctgctggtccaacagGggagaagatactgcagatgt	13	9	1	3	rs79878411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:46584500G>A	ENST00000242848.4	-	7	1077	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ZC3H13_ENST00000282007.3_Silent_p.P243P|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	243							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGTCCAACAGGGGAGAAGATA	0.403													G|||	41	0.0081869	0.031	0.0	5008	,	,		15604	0.0		0.0	False		,,,				2504	0.0				p.P243P	Esophageal Squamous(187;747 2077 11056 31291 44172)	Atlas-SNP	.											.	ZC3H13	197	.	0			c.C729T						PASS	.	G		117,4289	87.8+/-126.4	1,115,2087	107	99	102		729	-1.8	0.5	13	dbSNP_132	102	0,8600		0,0,4300	no	coding-synonymous	ZC3H13	NM_015070.3		1,115,6387	AA,AG,GG		0.0,2.6555,0.8996		243/1565	46584500	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	23091	exon7			CAACAGGGGAGAA	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.729C>T	13.37:g.46584500G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	162	70	0.432099	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37																																																																																				G|0.990;A|0.010	0.010	strong		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		A	46584500	G	A	46584500	2	1	22	1	0	0	0	0	0	0	0	1	17562	1219	43	2		2	ZC3H13	13	46584500	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1434838	46584500	68585378	7180	12288										
CPB2	1361	hgsc.bcm.edu	37	chr13	46638826	46638826	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctattcaggtctgttccGatgcaatgattgttcgcata	8	9	2	1	rs2277440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:46638826G>A	ENST00000181383.4	-	8	769	c.753C>T	c.(751-753)atC>atT	p.I251I	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Silent_p.I214I|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	251					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I251I(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGTCTGTTCCGATGCAATGAT	0.423													G|||	718	0.143371	0.1112	0.1556	5008	,	,		20854	0.2917		0.0626	False		,,,				2504	0.1084				p.I251I		Atlas-SNP	.											CPB2,NS,carcinoma,0,1	CPB2	60	1	1	Substitution - coding silent(1)	stomach(1)	c.C753T						PASS	.	G	,	546,3860	247.2+/-255.5	39,468,1696	188	156	167		753,642	-11.3	0	13	dbSNP_100	167	544,8056	149.2+/-204.3	10,524,3766	no	coding-synonymous,coding-synonymous	CPB2	NM_001872.3,NM_016413.3	,	49,992,5462	AA,AG,GG		6.3256,12.3922,8.3807	,	251/424,214/361	46638826	1090,11916	2203	4300	6503	SO:0001819	synonymous_variant	1361	exon8			TGTTCCGATGCAA	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.753C>T	13.37:g.46638826G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	109	56	0.513761	NM_001872	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	CCDS9401.1																																																																																			G|0.890;A|0.110	0.110	strong		0.423	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		A	46638826	G	A	46638826	2	1	22	1	0	0	0	0	0	0	0	1	3797	1048	37	1		1	CPB2	13	46638826	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54326	46638826	68531052	7181	12289										
C13orf18	80183	hgsc.bcm.edu	37	chr13	46919719	46919719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtgtcccggcacctgctCgaactcctttaatgcactgc	8	15	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:46919719C>T	ENST00000429979.1	-	13	2252	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E393K|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E415K|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E550K|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E483K|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E393K	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	550										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGCACCTGCTCGAACTCCTTT	0.527																																					p.E550K		Atlas-SNP	.											.	KIAA0226L	63	.	0			c.G1648A						PASS	.						43	42	42					13																	46919719		1942	4138	6080	SO:0001583	missense	80183	exon13			CCTGCTCGAACTC	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1648G>A	13.37:g.46919719C>T	ENSP00000396935:p.Glu550Lys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	47	25	0.531915	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574834	0.65878	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.46819	0.86;0.87;0.86;0.89	5.35	4.51	0.55191	.	.	.	.	.	T	0.41396	0.1157	M	0.77616	2.38	0.80722	D	1	B;B;P;B;B	0.38677	0.231;0.231;0.642;0.251;0.434	B;B;B;B;B	0.33521	0.064;0.064;0.163;0.041;0.165	T	0.35599	-0.9782	9	0.08179	T	0.78	-17.8147	9.4511	0.38727	0.0:0.8394:0.0:0.1606	.	393;393;550;415;483	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	K	550;483;550;393;393;415	ENSP00000396935:E550K;ENSP00000368061:E483K;ENSP00000374558:E550K;ENSP00000437501:E415K	ENSP00000315633:E393K	E	-	1	0	KIAA0226L	45817720	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.410000	0.52664	1.251000	0.43983	0.655000	0.94253	GAG	.	.	none		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		T	46919719	C	T	46919719	3	4	22	1	0	0	0	0	1	0	0	0	1720	893	31	1	352	1	C13orf18	13	46919719	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	280893	46919719	68250159	7182	12290										
C13orf18	80183	hgsc.bcm.edu	37	chr13	46946157	46946157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggaggtggccaaaatccCagggcttgtgggcagagaca	17	8	0	1	rs1408184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:46946157C>T	ENST00000429979.1	-	3	1058	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.G152R|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.G152R|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G17R|KIAA0226L_ENST00000480935.1_5'Flank|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G152R|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.G152R|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G85R|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000322896.6_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	152			G -> R (in dbSNP:rs1408184). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCCAAAATCCCAGGGCTTGTG	0.512													T|||	2261	0.451478	0.5295	0.4121	5008	,	,		20853	0.5923		0.3469	False		,,,				2504	0.3364				p.G152R		Atlas-SNP	.											.	KIAA0226L	63	.	0			c.G454A						PASS	.	T	ARG/GLY	2128,2278	599.7+/-389.3	523,1082,598	69	68	68		454	1	0	13	dbSNP_88	68	2817,5783	675.5+/-403.2	456,1905,1939	yes	missense	KIAA0226L	NM_025113.2	125	979,2987,2537	TT,TC,CC		32.7558,48.2978,38.0209	benign	152/663	46946157	4945,8061	2203	4300	6503	SO:0001583	missense	80183	exon3			AAATCCCAGGGCT	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.454G>A	13.37:g.46946157C>T	ENSP00000396935:p.Gly152Arg	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	172	88	0.511628	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	1031	0.47206959706959706	280	0.5691056910569106	152	0.4198895027624309	341	0.5961538461538461	258	0.3403693931398417	T	7.723	0.697533	0.15106	0.482978	0.327558	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000534925;ENST00000417405;ENST00000439642	T;T;T;T;T;T;T;T;T	0.41758	0.99;1.02;0.99;1.01;1.02;0.99;1.03;1.0;0.99	5.83	0.984	0.19773	.	0.718736	0.13469	N	0.385568	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.44636	-0.9315	9	0.08837	T	0.75	-2.1112	8.5131	0.33229	0.0:0.404:0.0:0.596	rs1408184;rs3742267;rs17857288;rs52811841;rs57945176;rs1408184	152;152;152;85;152	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	R	152;152;152;85;152;152;17;17;152	ENSP00000368057:G152R;ENSP00000396935:G152R;ENSP00000368074:G152R;ENSP00000368061:G85R;ENSP00000374558:G152R;ENSP00000368064:G152R;ENSP00000437501:G17R;ENSP00000402357:G17R;ENSP00000414579:G152R	ENSP00000368057:G152R	G	-	1	0	KIAA0226L	45844158	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.213000	0.09305	0.153000	0.19213	-0.254000	0.11334	GGG	T|0.432;G|0.002	0.432	strong		0.512	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		T	46946157	C	T	46946157	3	4	22	1	0	0	0	0	1	0	0	0	1720	594	21	2	1586	2	C13orf18	13	46946157	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26438	46946157	68223721	7183	12291										
LRCH1	23143	hgsc.bcm.edu	37	chr13	47127813	47127813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtaccgcagcccccgggcaCgacctctcggacacggtgca	12	18	1	0	rs45540131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:47127813C>T	ENST00000389798.3	+	1	479	c.282C>T	c.(280-282)caC>caT	p.H94H	LRCH1_ENST00000311191.6_Silent_p.H94H|LRCH1_ENST00000389797.3_Silent_p.H94H	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	94										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCCCCGGGCACGACCTCTCGG	0.687													C|||	751	0.14996	0.2088	0.1268	5008	,	,		13588	0.1905		0.1054	False		,,,				2504	0.091				p.H94H		Atlas-SNP	.											.	LRCH1	104	.	0			c.C282T						PASS	.	C	,,	674,3346		53,568,1389	10	9	10		282,282,282	-1.9	0.8	13	dbSNP_127	10	825,7211		52,721,3245	no	coding-synonymous,coding-synonymous,coding-synonymous	LRCH1	NM_001164211.1,NM_001164213.1,NM_015116.2	,,	105,1289,4634	TT,TC,CC		10.2663,16.7662,12.4336	,,	94/764,94/697,94/729	47127813	1499,10557	2010	4018	6028	SO:0001819	synonymous_variant	23143	exon1			CGGGCACGACCTC	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.282C>T	13.37:g.47127813C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_015116	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	CCDS31972.1																																																																																			C|0.861;T|0.139	0.139	strong		0.687	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		T	47127813	C	T	47127813	2	4	22	1	0	0	0	0	0	0	0	1	8932	535	19	1		1	LRCH1	13	47127813	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	181656	47127813	68042065	7184	12292										
ESD	2098	hgsc.bcm.edu	37	chr13	47354101	47354101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgatctgttcccaaatatCcactaaaggcttttttgccc	5	11	1	1	rs9778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:47354101C>T	ENST00000378720.3	-	8	751	c.569G>A	c.(568-570)gGa>gAa	p.G190E	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.G161E	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	190			G -> E (in allele ESD*2; dbSNP:rs9778). {ECO:0000269|PubMed:12721789, ECO:0000269|PubMed:7907313}.		formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TCCCAAATATCCACTAAAGGC	0.358													C|||	962	0.192093	0.0855	0.1383	5008	,	,		10141	0.4206		0.0775	False		,,,				2504	0.2566				p.G190E		Atlas-SNP	.											.	ESD	23	.	0			c.G569A						PASS	.	C	GLU/GLY	350,4056	181.5+/-209.5	10,330,1863	106	104	105		569	4.4	1	13	dbSNP_52	105	914,7686	202.1+/-245.5	42,830,3428	yes	missense	ESD	NM_001984.1	98	52,1160,5291	TT,TC,CC		10.6279,7.9437,9.7186	benign	190/283	47354101	1264,11742	2203	4300	6503	SO:0001583	missense	2098	exon8			AAATATCCACTAA	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.569G>A	13.37:g.47354101C>T	ENSP00000367992:p.Gly190Glu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	80	31	0.3875	NM_001984	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	CCDS9404.1	380|380	0.17399267399267399|0.17399267399267399	51|51	0.10365853658536585|0.10365853658536585	54|54	0.14917127071823205|0.14917127071823205	226|226	0.3951048951048951|0.3951048951048951	49|49	0.06464379947229551|0.06464379947229551	C|C	20.9|20.9	4.071880|4.071880	0.76301|0.76301	0.079437|0.079437	0.106279|0.106279	ENSG00000139684|ENSG00000139684	ENST00000412582|ENST00000378720;ENST00000378697	.|T;T	.|0.31510	.|1.49;1.49	6.16|6.16	4.42|4.42	0.53409|0.53409	.|.	.|0.155857	.|0.56097	.|N	.|0.000026	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.82517|0.82517	2.595|2.595	0.09310|0.09310	P|P	0.9999999635137|0.9999999635137	.|P	.|0.39737	.|0.685	.|B	.|0.39503	.|0.301	T|T	0.39502|0.39502	-0.9611|-0.9611	4|9	.|0.46703	.|T	.|0.11	-6.916|-6.916	10.9038|10.9038	0.47067|0.47067	0.0:0.7987:0.1311:0.0702|0.0:0.7987:0.1311:0.0702	rs9778;rs1051064;rs3191448;rs8192894;rs17342262;rs17353977;rs52797294;rs57577491;rs8192894|rs9778;rs1051064;rs3191448;rs8192894;rs17342262;rs17353977;rs52797294;rs57577491;rs8192894	.|190	.|P10768	.|ESTD_HUMAN	N|E	138|190;161	.|ENSP00000367992:G190E;ENSP00000367969:G161E	.|ENSP00000367969:G161E	D|G	-|-	1|2	0|0	ESD|ESD	46252102|46252102	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	4.842000|4.842000	0.62831|0.62831	0.912000|0.912000	0.36772|0.36772	0.650000|0.650000	0.86243|0.86243	GAT|GGA	T|0.140;G|0.000;C|0.859	0.140	strong		0.358	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			T	47354101	C	T	47354101	3	4	22	1	0	0	0	0	1	0	0	0	5250	855	30	2	291	2	ESD	13	47354101	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	226288	47354101	67815777	7185	12293										
HTR2A	3356	hgsc.bcm.edu	37	chr13	47469940	47469940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaagtgttagcttctccGgagttaaagtcattactgta	9	7	3	1	rs6313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:47469940G>A	ENST00000378688.4	-	1	233	c.102C>T	c.(100-102)tcC>tcT	p.S34S	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Silent_p.S34S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	34					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TAGCTTCTCCGGAGTTAAAGT	0.428													G|||	2210	0.441294	0.3926	0.3545	5008	,	,		21005	0.5883		0.4364	False		,,,				2504	0.4223				p.S34S		Atlas-SNP	.											.	HTR2A	98	.	0			c.C102T	GRCh37	CM960851	HTR2A	M	rs6313	PASS	.	G	,	1684,2722	510.3+/-367.5	310,1064,829	101	99	99		102,	-7.6	0	13	dbSNP_52	99	3527,5073	514.9+/-378.5	748,2031,1521	no	coding-synonymous,intron	HTR2A	NM_000621.3,NM_001165947.1	,	1058,3095,2350	AA,AG,GG		41.0116,38.2206,40.0661	,	34/472,	47469940	5211,7795	2203	4300	6503	SO:0001819	synonymous_variant	3356	exon2			TTCTCCGGAGTTA	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.102C>T	13.37:g.47469940G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																			G|0.581;A|0.419	0.419	strong		0.428	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		A	47469940	G	A	47469940	2	1	22	1	0	0	0	0	0	0	0	1	7441	1103	39	1		1	HTR2A	13	47469940	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115839	47469940	67699938	7186	12294										
FNDC3A	22862	hgsc.bcm.edu	37	chr13	49775997	49775997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaaagacttaatgagtcaAcatcctataaattctgtatt	4	7	2	2	rs45604939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:49775997A>G	ENST00000492622.2	+	24	3354	c.3049A>G	c.(3049-3051)Aca>Gca	p.T1017A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.T961A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.T1017A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1017	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TAATGAGTCAACATCCTATAA	0.368													A|||	127	0.0253594	0.0008	0.0476	5008	,	,		15155	0.0		0.0676	False		,,,				2504	0.0256				p.T1017A		Atlas-SNP	.											.	FNDC3A	93	.	0			c.A3049G						PASS	.	A	ALA/THR,ALA/THR	52,4354	50.9+/-86.3	0,52,2151	94	95	94		3049,2881	3.7	1	13	dbSNP_127	94	602,7996	158.2+/-211.7	19,564,3716	yes	missense,missense	FNDC3A	NM_001079673.1,NM_014923.3	58,58	19,616,5867	GG,GA,AA		7.0016,1.1802,5.0292	possibly-damaging,possibly-damaging	1017/1199,961/1143	49775997	654,12350	2203	4299	6502	SO:0001583	missense	22862	exon24			GAGTCAACATCCT	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3049A>G	13.37:g.49775997A>G	ENSP00000417257:p.Thr1017Ala	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	149	77	0.516779	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	68	0.031135531135531136	1	0.0020325203252032522	18	0.049723756906077346	0	0.0	49	0.06464379947229551	A	22.8	4.334633	0.81801	0.011802	0.070016	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.61627	0.09;0.09;0.09	6.16	3.66	0.41972	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.079122	0.52532	D	0.000074	T	0.21509	0.0518	M	0.87547	2.89	0.80722	D	1	D;P	0.64830	0.994;0.597	D;P	0.68765	0.96;0.531	T	0.54794	-0.8240	10	0.48119	T	0.1	-24.27	9.0647	0.36455	0.7455:0.1304:0.0:0.1241	rs45604939	961;1017	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1017;953;1017;961	ENSP00000417257:T1017A;ENSP00000441831:T1017A;ENSP00000381362:T961A	ENSP00000338579:T953A	T	+	1	0	FNDC3A	48673998	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.904000	0.92590	0.515000	0.28320	0.528000	0.53228	ACA	A|0.954;G|0.046	0.046	strong		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		G	49775997	A	G	49775997	3	3	22	1	0	0	0	0	1	0	0	0	5969	43	2	2	3150	2	FNDC3A	13	49775997	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2306057	49775997	65393881	7187	12295										
RCBTB1	55213	hgsc.bcm.edu	37	chr13	50123622	50123622	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggcgccacgagacggcGggagtggcaaagcaggcaaa	18	9	0	1	rs3751384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:50123622G>C	ENST00000378302.2	-	9	1277	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	RCBTB1_ENST00000546015.1_Silent_p.P339P|RCBTB1_ENST00000258646.3_Silent_p.P339P	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		ACGAGACGGCGGGAGTGGCAA	0.597													G|||	2380	0.47524	0.2632	0.6441	5008	,	,		15536	0.5149		0.6441	False		,,,				2504	0.4274				p.P339P		Atlas-SNP	.											.	RCBTB1	34	.	0			c.C1017G						PASS	.	G		1401,3005	458.2+/-351.9	217,967,1019	67	53	58		1017	-10.1	0.1	13	dbSNP_107	58	5809,2791	675.5+/-403.2	1987,1835,478	no	coding-synonymous	RCBTB1	NM_018191.3		2204,2802,1497	CC,CG,GG		32.4535,31.7975,44.564		339/532	50123622	7210,5796	2203	4300	6503	SO:0001819	synonymous_variant	55213	exon9			GACGGCGGGAGTG	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1017C>G	13.37:g.50123622G>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	92	90	0.978261	NM_018191	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																			G|0.453;C|0.547	0.547	strong		0.597	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		C	50123622	G	C	50123622	2	2	22	1	0	0	0	0	0	0	0	1	13171	1103	39	4		4	RCBTB1	13	50123622	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	347625	50123622	65046256	7188	12296										
RCBTB1	55213	hgsc.bcm.edu	37	chr13	50141345	50141345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaggtgccgaagacacacGccttccgaatagacgcgatc	11	13	0	3	rs4942848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:50141345G>A	ENST00000378302.2	-	3	331	c.71C>T	c.(70-72)gCg>gTg	p.A24V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.A24V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.A24V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	24			A -> V (in dbSNP:rs4942848). {ECO:0000269|PubMed:11306461, ECO:0000269|PubMed:14565662, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAAGACACACGCCTTCCGAAT	0.468													G|||	2635	0.526158	0.3177	0.7305	5008	,	,		18492	0.6131		0.6561	False		,,,				2504	0.4397				p.A24V		Atlas-SNP	.											.	RCBTB1	34	.	0			c.C71T						PASS	.	G	VAL/ALA	1660,2746	507.4+/-366.7	304,1052,847	124	111	115		71	5.8	1	13	dbSNP_111	115	5887,2713	682.2+/-403.8	2041,1805,454	yes	missense	RCBTB1	NM_018191.3	64	2345,2857,1301	AA,AG,GG		31.5465,37.6759,41.9729	benign	24/532	50141345	7547,5459	2203	4300	6503	SO:0001583	missense	55213	exon3			ACACACGCCTTCC	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.71C>T	13.37:g.50141345G>A	ENSP00000367552:p.Ala24Val	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	113	113	1	NM_018191	Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	CCDS9418.1	1284	0.5879120879120879	162	0.32926829268292684	245	0.6767955801104972	366	0.6398601398601399	511	0.6741424802110818	G	23.9	4.468169	0.84533	0.376759	0.684535	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.77098	1.34;1.34;-1.07	5.84	5.84	0.93424	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.42744	1.35	0.09310	P	0.999999999232834	D	0.89917	1.0	D	0.91635	0.999	T	0.45338	-0.9268	9	0.02654	T	1	-16.71	20.1466	0.98079	0.0:0.0:1.0:0.0	rs4942848;rs17857155;rs57157356;rs4942848	24	Q8NDN9	RCBT1_HUMAN	V	24	ENSP00000258646:A24V;ENSP00000367552:A24V;ENSP00000443293:A24V	ENSP00000258646:A24V	A	-	2	0	RCBTB1	49039346	1.000000	0.71417	0.989000	0.46669	0.904000	0.53231	9.358000	0.97109	2.779000	0.95612	0.591000	0.81541	GCG	G|0.431;A|0.568	0.568	strong		0.468	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		A	50141345	G	A	50141345	3	1	22	1	0	0	0	0	1	0	0	0	13171	1087	38	1	1568	1	RCBTB1	13	50141345	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17723	50141345	65028533	7189	12297										
ARL11	115761	hgsc.bcm.edu	37	chr13	50205025	50205025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagagagattccaggaccacTgctgggagctccggggctgc	15	11	0	2	rs3803185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:50205025T>C	ENST00000282026.1	+	2	777	c.442T>C	c.(442-444)Tgc>Cgc	p.C148R	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	148			C -> R (in dbSNP:rs3803185). {ECO:0000269|PubMed:15843669}.		hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CCAGGACCACTGCTGGGAGCT	0.612													T|||	1271	0.253794	0.0666	0.4006	5008	,	,		16728	0.1865		0.496	False		,,,				2504	0.2229				p.C148R		Atlas-SNP	.											.	ARL11	26	.	0			c.T442C	GRCh37	CM062430	ARL11	M	rs3803185	PASS	.	T	ARG/CYS	643,3763	265.0+/-266.4	50,543,1610	36	35	36		442	-10.8	0	13	dbSNP_107	36	4418,4178	553.7+/-386.3	1153,2112,1033	yes	missense	ARL11	NM_138450.5	180	1203,2655,2643	CC,CT,TT		48.604,14.5937,38.9248	benign	148/197	50205025	5061,7941	2203	4298	6501	SO:0001583	missense	115761	exon2			GACCACTGCTGGG	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.442T>C	13.37:g.50205025T>C	ENSP00000282026:p.Cys148Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	96	53	0.552083	NM_138450		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	673	0.30815018315018317	36	0.07317073170731707	146	0.40331491712707185	97	0.16958041958041958	394	0.5197889182058048	T	0.113	-1.135197	0.01742	0.145937	0.51396	ENSG00000152213	ENST00000282026	T	0.81330	-1.48	5.42	-10.8	0.00216	.	0.790281	0.12116	N	0.498086	T	0.00012	0.0000	N	0.04724	-0.175	0.58432	P	4.000000000004E-6	B	0.06786	0.001	B	0.08055	0.003	T	0.16364	-1.0405	9	0.32370	T	0.25	-17.1507	5.6024	0.17361	0.4664:0.3524:0.0788:0.1023	rs3803185;rs3803185	148	Q969Q4	ARL11_HUMAN	R	148	ENSP00000282026:C148R	ENSP00000282026:C148R	C	+	1	0	ARL11	49103026	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.348000	0.02629	-2.504000	0.00508	-1.140000	0.01884	TGC	T|0.660;C|0.340	0.340	strong		0.612	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		C	50205025	T	C	50205025	3	2	22	1	0	0	0	0	1	0	0	0	927	1580	55	3	444	3	ARL11	13	50205025	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	63680	50205025	64964853	7190	12298										
ARL11	115761	hgsc.bcm.edu	37	chr13	50205165	50205165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagcgcggagacagcaaGagatcttgatccagacagag	14	9	1	6	rs35835937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:50205165G>C	ENST00000282026.1	+	2	917	c.582G>C	c.(580-582)aaG>aaC	p.K194N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	194					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GAGACAGCAAGAGATCTTGAT	0.522													G|||	38	0.00758786	0.028	0.0014	5008	,	,		20145	0.0		0.0	False		,,,				2504	0.0				p.K194N		Atlas-SNP	.											.	ARL11	26	.	0			c.G582C						PASS	.	G	ASN/LYS	90,4200		1,88,2056	6	6	6		582	0.8	0	13	dbSNP_126	6	0,8320		0,0,4160	yes	missense	ARL11	NM_138450.5	94	1,88,6216	CC,CG,GG		0.0,2.0979,0.7137	benign	194/197	50205165	90,12520	2145	4160	6305	SO:0001583	missense	115761	exon2			CAGCAAGAGATCT	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.582G>C	13.37:g.50205165G>C	ENSP00000282026:p.Lys194Asn	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	160	91	0.56875	NM_138450		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	G	12.80	2.047801	0.36085	0.020979	0.0	ENSG00000152213	ENST00000282026	T	0.61158	0.13	4.85	0.84	0.18912	.	.	.	.	.	T	0.17280	0.0415	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20140	-1.0284	9	0.87932	D	0	.	5.8114	0.18467	0.1723:0.2988:0.5288:0.0	rs35835937	194	Q969Q4	ARL11_HUMAN	N	194	ENSP00000282026:K194N	ENSP00000282026:K194N	K	+	3	2	ARL11	49103166	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	0.717000	0.25851	0.195000	0.20347	0.561000	0.74099	AAG	G|0.993;C|0.007	0.007	strong		0.522	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		C	50205165	G	C	50205165	3	2	22	1	0	0	0	0	1	0	0	0	927	933	33	4	584	4	ARL11	13	50205165	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	140	50205165	64964713	7191	12299										
FAM124A	220108	hgsc.bcm.edu	37	chr13	51855114	51855114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagatgcagcagccactggGcagctcacaaggattccagg	12	11	1	1	rs74087446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:51855114G>T	ENST00000322475.8	+	4	1498	c.1363G>T	c.(1363-1365)Gca>Tca	p.A455S	FAM124A_ENST00000280057.6_Missense_Mutation_p.A491S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	455										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CAGCCACTGGGCAGCTCACAA	0.587													G|||	93	0.0185703	0.0696	0.0014	5008	,	,		18065	0.0		0.0	False		,,,				2504	0.0				p.A491S		Atlas-SNP	.											.	FAM124A	61	.	0			c.G1471T						PASS	.	G	SER/ALA,SER/ALA	315,4091	168.3+/-199.2	15,285,1903	55	54	54		1363,1471	-8.6	0	13	dbSNP_130	54	0,8600		0,0,4300	yes	missense,missense	FAM124A	NM_001242312.1,NM_145019.3	99,99	15,285,6203	TT,TG,GG		0.0,7.1493,2.422	benign,benign	455/547,491/583	51855114	315,12691	2203	4300	6503	SO:0001583	missense	220108	exon5			CACTGGGCAGCTC	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1363G>T	13.37:g.51855114G>T	ENSP00000324625:p.Ala455Ser	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	38	0.0173992673992674	37	0.07520325203252033	1	0.0027624309392265192	0	0.0	0	0.0	G	6.025	0.373042	0.11409	0.071493	0.0	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.39406	1.13;1.08	5.07	-8.56	0.00904	.	2.466230	0.01371	N	0.012590	T	0.00440	0.0014	N	0.00368	-1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.13818	-1.0495	10	0.05620	T	0.96	-11.5191	5.727	0.18018	0.0847:0.4204:0.3398:0.1551	.	455;491	Q86V42;Q86V42-2	F124A_HUMAN;.	S	455;491	ENSP00000324625:A455S;ENSP00000280057:A491S	ENSP00000280057:A491S	A	+	1	0	FAM124A	50753115	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.686000	0.05161	-1.642000	0.01521	-0.284000	0.09977	GCA	G|0.975;T|0.026	0.026	strong		0.587	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		T	51855114	G	T	51855114	3	4	22	1	0	0	0	0	1	0	0	0	5425	1203	42	4	1489	4	FAM124A	13	51855114	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1649949	51855114	63314764	7192	12300										
SERPINE3	647174	hgsc.bcm.edu	37	chr13	51936079	51936079	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataatttatcagtgtctctcTagcaacaagggctcatttgt	7	8	4	0	rs74084815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:51936079T>C	ENST00000521255.1	+	7	1281	c.1221T>C	c.(1219-1221)tcT>tcC	p.S407S	SERPINE3_ENST00000524365.1_Intron|RP11-24B19.4_ENST00000602881.1_RNA|SERPINE3_ENST00000400389.4_Intron|RP11-24B19.3_ENST00000602636.1_RNA	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	407					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						AGTGTCTCTCTAGCAACAAGG	0.378													T|||	41	0.0081869	0.031	0.0	5008	,	,		16300	0.0		0.0	False		,,,				2504	0.0				p.S407S		Atlas-SNP	.											.	SERPINE3	37	.	0			c.T1221C						PASS	.	T	,,	102,3578		2,98,1740	133	120	124		,1221,	3.2	0.9	13	dbSNP_130	124	0,8172		0,0,4086	no	utr-3,coding-synonymous,utr-3	INTS6,SERPINE3	NM_001039937.1,NM_001101320.1,NM_012141.2	,,	2,98,5826	CC,CT,TT		0.0,2.7717,0.8606	,,	,407/425,	51936079	102,11750	1840	4086	5926	SO:0001819	synonymous_variant	647174	exon7			TCTCTCTAGCAAC	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.1221T>C	13.37:g.51936079T>C		Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	202	95	0.470297	NM_001101320	B1V8P3	Silent	SNP	ENST00000521255.1	37	CCDS53870.1																																																																																			T|0.992;C|0.008	0.008	strong		0.378	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		C	51936079	T	C	51936079	2	2	22	1	0	0	0	0	0	0	0	1	14113	1509	53	3		3	SERPINE3	13	51936079	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80965	51936079	63233799	7193	12301										
ATP7B	540	hgsc.bcm.edu	37	chr13	52520435	52520435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccttgtgcgccatctcCaggggcttgcctcccttgat	10	15	1	2	rs1801248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:52520435C>T	ENST00000242839.4	-	13	3201	c.3045G>A	c.(3043-3045)ctG>ctA	p.L1015L	ATP7B_ENST00000400366.3_Silent_p.L904L|ATP7B_ENST00000448424.2_Silent_p.L937L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Silent_p.L287L|ATP7B_ENST00000400370.3_Silent_p.L585L|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000344297.5_Silent_p.L808L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1015					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCGCCATCTCCAGGGGCTTGC	0.597									Wilson disease				C|||	62	0.0123802	0.0	0.0274	5008	,	,		18934	0.0		0.0348	False		,,,				2504	0.0082				p.L1015L		Atlas-SNP	.											.	ATP7B	123	.	0			c.G3045A						PASS	.	C	,	31,3955		0,31,1962	18	21	20		3045,2424	2.3	1	13	dbSNP_89	20	333,8009		8,317,3846	no	coding-synonymous,coding-synonymous	ATP7B	NM_000053.3,NM_001005918.2	,	8,348,5808	TT,TC,CC		3.9918,0.7777,2.9526	,	1015/1466,808/1259	52520435	364,11964	1993	4171	6164	SO:0001819	synonymous_variant	540	exon13	Familial Cancer Database		CATCTCCAGGGGC	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3045G>A	13.37:g.52520435C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	84	37	0.440476	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	CCDS41892.1																																																																																			C|0.984;T|0.016	0.016	strong		0.597	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52520435	C	T	52520435	2	4	22	1	0	0	0	0	0	0	0	1	1191	581	21	2		2	ATP7B	13	52520435	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	584356	52520435	62649443	7194	12302										
ALG11	440138	hgsc.bcm.edu	37	chr13	52598668	52598668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactaaaccatattctctcaCtatggaaagttgggaattgc	7	9	2	0	rs148434423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:52598668C>A	ENST00000521508.1	+	3	807	c.802C>A	c.(802-804)Cta>Ata	p.L268I	UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	268					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TATTCTCTCACTATGGAAAGT	0.378													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22470	0.0		0.0	False		,,,				2504	0.0				p.L268I		Atlas-SNP	.											.	ALG11	39	.	0			c.C802A						PASS	.	C	ILE/LEU	8,4398	15.5+/-35.6	0,8,2195	120	111	114		802	5.2	1	13	dbSNP_134	114	0,8600		0,0,4300	yes	missense	ALG11	NM_001004127.2	5	0,8,6495	AA,AC,CC		0.0,0.1816,0.0615	possibly-damaging	268/493	52598668	8,12998	2203	4300	6503	SO:0001583	missense	440138	exon3			CTCTCACTATGGA	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.802C>A	13.37:g.52598668C>A	ENSP00000430236:p.Leu268Ile	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	216	100	0.462963	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.85	2.062733	0.36373	0.001816	0.0	ENSG00000253710	ENST00000521508	T	0.80304	-1.36	6.03	5.19	0.71726	.	0.000000	0.64402	U	0.000002	T	0.81517	0.4839	L	0.50993	1.605	0.80722	D	1	D	0.57571	0.98	P	0.52309	0.695	T	0.78563	-0.2156	10	0.20519	T	0.43	.	15.3059	0.73992	0.0:0.9333:0.0:0.0667	.	268	Q2TAA5	ALG11_HUMAN	I	268	ENSP00000430236:L268I	ENSP00000430236:L268I	L	+	1	2	ALG11	51496669	0.993000	0.37304	0.970000	0.41538	0.930000	0.56654	3.054000	0.49908	1.569000	0.49696	0.557000	0.71058	CTA	C|0.999;A|0.001	0.001	strong		0.378	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		A	52598668	C	A	52598668	3	1	22	1	0	0	0	0	1	0	0	0	513	564	20	4	812	4	ALG11	13	52598668	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78233	52598668	62571210	7195	12303										
PCDH8	5100	hgsc.bcm.edu	37	chr13	53419765	53419765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacccggggaggcaccgtaGggctgcagcagggaataggg	18	9	0	0	rs5030686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:53419765G>A	ENST00000377942.3	-	2	2837	c.2634C>T	c.(2632-2634)ccC>ccT	p.P878P	PCDH8_ENST00000338862.4_Silent_p.P781P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	878					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCACCGTAGGGCTGCAGCA	0.562													G|||	259	0.0517173	0.0673	0.085	5008	,	,		15777	0.0109		0.0547	False		,,,				2504	0.046				p.P878P	GBM(36;25 841 9273 49207)	Atlas-SNP	.											.	PCDH8	95	.	0			c.C2634T						PASS	.	G	,	297,4107	143.1+/-178.2	14,269,1919	25	26	26		2634,2343	0.6	1	13	dbSNP_113	26	500,8100	133.8+/-191.2	16,468,3816	no	coding-synonymous,coding-synonymous	PCDH8	NM_002590.3,NM_032949.2	,	30,737,5735	AA,AG,GG		5.814,6.7439,6.1289	,	878/1071,781/974	53419765	797,12207	2202	4300	6502	SO:0001819	synonymous_variant	5100	exon2			ACCGTAGGGCTGC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2634C>T	13.37:g.53419765G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	94	48	0.510638	NM_002590	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	CCDS9438.1																																																																																			G|0.945;A|0.055	0.055	strong		0.562	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		A	53419765	G	A	53419765	2	1	22	1	0	0	0	0	0	0	0	1	11517	987	35	2		2	PCDH8	13	53419765	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	821097	53419765	61750113	7196	12304										
PCDH8	5100	hgsc.bcm.edu	37	chr13	53420886	53420886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtcgaagctgcgcagcgcGtagatggctccggtagctgg	16	10	0	1	rs5030684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:53420886G>A	ENST00000377942.3	-	1	1889	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y	PCDH8_ENST00000338862.4_Silent_p.Y562Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCGCAGCGCGTAGATGGCTC	0.677													G|||	253	0.0505192	0.0643	0.0821	5008	,	,		15542	0.0109		0.0547	False		,,,				2504	0.046				p.Y562Y	GBM(36;25 841 9273 49207)	Atlas-SNP	.											.	PCDH8	95	.	0			c.C1686T						PASS	.	G	,	283,4063		13,257,1903	12	13	12		1686,1686	1.3	1	13	dbSNP_113	12	488,8036		15,458,3789	no	coding-synonymous,coding-synonymous	PCDH8	NM_002590.3,NM_032949.2	,	28,715,5692	AA,AG,GG		5.725,6.5117,5.9907	,	562/1071,562/974	53420886	771,12099	2173	4262	6435	SO:0001819	synonymous_variant	5100	exon1			CAGCGCGTAGATG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1686C>T	13.37:g.53420886G>A		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_002590	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	CCDS9438.1																																																																																			G|0.951;A|0.049	0.049	strong		0.677	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		A	53420886	G	A	53420886	2	1	22	1	0	0	0	0	0	0	0	1	11517	1140	40	1		1	PCDH8	13	53420886	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1121	53420886	61748992	7197	12305										
KLHL1	57626	hgsc.bcm.edu	37	chr13	70413291	70413291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgattttctaggtcagccaAtatctgtgaataatacacaa	6	7	3	2	rs41283972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:70413291A>G	ENST00000377844.4	-	6	1990	c.1231T>C	c.(1231-1233)Ttg>Ctg	p.L411L	KLHL1_ENST00000545028.1_Silent_p.L218L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	411					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGGTCAGCCAATATCTGTGAA	0.308													G|||	404	0.0806709	0.2247	0.0648	5008	,	,		17353	0.0089		0.0338	False		,,,				2504	0.0194				p.L411L		Atlas-SNP	.											.	KLHL1	164	.	0			c.T1231C						PASS	.	G		902,3502	733.7+/-410.5	91,720,1391	89	87	88		1231	0.1	1	13	dbSNP_127	88	311,8285	801.8+/-407.4	9,293,3996	no	coding-synonymous	KLHL1	NM_020866.2		100,1013,5387	GG,GA,AA		3.618,20.4814,9.3308		411/749	70413291	1213,11787	2202	4298	6500	SO:0001819	synonymous_variant	57626	exon6			CAGCCAATATCTG	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1231T>C	13.37:g.70413291A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																			A|0.919;G|0.081	0.081	strong		0.308	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		G	70413291	A	G	70413291	2	3	22	1	0	0	0	0	0	0	0	1	8365	98	4	2		2	KLHL1	13	70413291	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16992405	70413291	44756587	7198	12306										
C13orf34	79866	hgsc.bcm.edu	37	chr13	73317740	73317741	+	Splice_Site	INS	-	-	GTGA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattctgagaaaagcgatgINSgtgagtatgaacacaatttg					rs71664409|rs10648315|rs370727431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:73317740_73317741insGTGA	ENST00000390667.5	+	6	551	c.454_454insGTGA	c.(454-456)gct>GTGAgct	p.A152fs	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Splice_Site_p.A82fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	152					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GAAAAGCGATGGTGAGTATGAA	0.337														680	0.135783	0.4062	0.0418	5008	,	,		13893	0.0238		0.0109	False		,,,				2504	0.0808				p.A152fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.454_455insGTGA						PASS	.			1176,2370		209,758,806						5.7	1		dbSNP_119	62	77,7741		0,77,3832	no	frameshift-near-splice	BORA	NM_024808.2		209,835,4638	A1A1,A1R,RR		0.9849,33.1641,11.026				1253,10111				SO:0001630	splice_region_variant	79866	exon6			.	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.454+1->GTGA	13.37:g.73317741_73317744dupGTGA		Somatic	217	.	.		WXS	Illumina HiSeq	Phase_I	205	58	0.283	NM_024808	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Ins	INS	ENST00000390667.5	37	CCDS9446.1																																																																																			.	.	strong		0.337	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	Frame_Shift_Ins	GTGA	73317741	-	GTGA	73317740	8	5	22	1	0	1	1	0	0	0	1	0	1728	1362	47	0	472	0	C13orf34	13	73317740	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	2904449	73317740	41852138	7199	12307										
DIS3	22894	hgsc.bcm.edu	37	chr13	73349359	73349359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattcataccattcgttctGtctcttcttctttctccaca	3	13	6	1	rs7332388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:73349359G>C	ENST00000377767.4	-	6	1077	c.977C>G	c.(976-978)aCa>aGa	p.T326R	DIS3_ENST00000545453.1_Missense_Mutation_p.T164R|DIS3_ENST00000377780.4_Missense_Mutation_p.T296R	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	326			T -> R (in dbSNP:rs7332388). {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:15489334}.		CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CATTCGTTCTGTCTCTTCTTC	0.383										Multiple Myeloma(4;0.011)			C|||	2167	0.432708	0.7005	0.2839	5008	,	,		16735	0.2946		0.4215	False		,,,				2504	0.3303				p.T326R		Atlas-SNP	.											DIS3,colon,carcinoma,+1,1	DIS3	103	1	0			c.C977G						PASS	.	C	ARG/THR,ARG/THR	2984,1422	463.6+/-353.6	1015,954,234	104	108	107		887,977	-3.7	0.7	13	dbSNP_116	107	3570,5030	628.9+/-398.2	765,2040,1495	yes	missense,missense	DIS3	NM_001128226.1,NM_014953.3	71,71	1780,2994,1729	CC,CG,GG		41.5116,32.2742,49.6079	benign,benign	296/929,326/959	73349359	6554,6452	2203	4300	6503	SO:0001583	missense	22894	exon6			CGTTCTGTCTCTT	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.977C>G	13.37:g.73349359G>C	ENSP00000366997:p.Thr326Arg	Somatic	287	1	0.00348432		WXS	Illumina HiSeq	Phase_I	243	241	0.99177	NM_014953	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	940	0.43040293040293043	342	0.6951219512195121	111	0.30662983425414364	182	0.3181818181818182	305	0.4023746701846966	C	7.510	0.654453	0.14580	0.677258	0.415116	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.46451	0.87;0.87;0.87	6.06	-3.74	0.04385	.	1.139410	0.06233	N	0.689042	T	0.00012	0.0000	N	0.12182	0.205	0.58432	P	5.999999999950489E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40001	-0.9586	9	0.16420	T	0.52	.	8.482	0.33049	0.0:0.1279:0.316:0.556	rs7332388;rs17178684;rs17857453;rs52823965;rs56756337;rs7332388	296;326	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	R	326;296;164	ENSP00000366997:T326R;ENSP00000367011:T296R;ENSP00000440058:T164R	ENSP00000366997:T326R	T	-	2	0	DIS3	72247360	0.994000	0.37717	0.733000	0.30861	0.693000	0.40251	0.304000	0.19228	-1.012000	0.03387	-0.786000	0.03341	ACA	G|0.526;C|0.474	0.474	strong		0.383	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		C	73349359	G	C	73349359	3	2	22	1	0	0	0	0	1	0	0	0	4535	1377	48	4	1963	4	DIS3	13	73349359	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31619	73349359	41820519	7200	12308										
PIBF1	10464	hgsc.bcm.edu	37	chr13	73369642	73369642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgacagaagagcaatatAttaaattaaaagcttttcct	6	5	0	3	rs1372000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:73369642A>G	ENST00000326291.6	+	4	837	c.499A>G	c.(499-501)Att>Gtt	p.I167V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	167			I -> V (in dbSNP:rs1372000).			centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGAGCAATATATTAAATTAAA	0.328													A|||	1677	0.334864	0.5802	0.183	5008	,	,		15815	0.3075		0.2237	False		,,,				2504	0.2536				p.I167V		Atlas-SNP	.											.	PIBF1	65	.	0			c.A499G						PASS	.	A	VAL/ILE	2327,2079	598.1+/-389.0	604,1119,480	68	72	71		499	-1.8	0.2	13	dbSNP_88	71	1981,6619	344.5+/-325.3	243,1495,2562	yes	missense	PIBF1	NM_006346.2	29	847,2614,3042	GG,GA,AA		23.0349,47.1857,33.1232	benign	167/758	73369642	4308,8698	2203	4300	6503	SO:0001583	missense	10464	exon4			CAATATATTAAAT	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.499A>G	13.37:g.73369642A>G	ENSP00000317144:p.Ile167Val	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	145	144	0.993103	NM_006346	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	CCDS31991.1	688	0.315018315018315	271	0.5508130081300813	71	0.19613259668508287	192	0.3356643356643357	154	0.20316622691292877	A	0.345	-0.947992	0.02304	0.528143	0.230349	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06142	3.34	5.71	-1.77	0.07982	.	0.834519	0.11625	N	0.545419	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	9	0.31617	T	0.26	1.2122	6.2837	0.21021	0.3386:0.2597:0.4017:0.0	rs1372000;rs52797084;rs59823248;rs1372000	167	Q8WXW3	PIBF1_HUMAN	V	167	ENSP00000317144:I167V	ENSP00000317144:I167V	I	+	1	0	PIBF1	72267643	0.087000	0.21565	0.215000	0.23724	0.263000	0.26337	-0.107000	0.10873	-0.257000	0.09459	-0.313000	0.08912	ATT	G|0.329;N|0.000	0.329	strong		0.328	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		G	73369642	A	G	73369642	3	3	22	1	0	0	0	0	1	0	0	0	11879	449	16	2	509	2	PIBF1	13	73369642	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20283	73369642	41800236	7201	12309										
KLF12	11278	hgsc.bcm.edu	37	chr13	74387412	74387412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgggagataggcctcggGggtccatttgtgctggagag	18	7	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:74387412G>A	ENST00000377669.2	-	4	709	c.683C>T	c.(682-684)cCc>cTc	p.P228L	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P228L	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TAGGCCTCGGGGGTCCATTTG	0.433																																					p.P228L		Atlas-SNP	.											KLF12,right_upper_lobe,carcinoma,+1,1	KLF12	42	1	0			c.C683T						scavenged	.						161	148	153					13																	74387412		2203	4300	6503	SO:0001583	missense	11278	exon5			CCTCGGGGGTCCA	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.683C>T	13.37:g.74387412G>A	ENSP00000366897:p.Pro228Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	165	2	0.0121212	NM_007249	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875808	0.51695	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01455	4.87;4.87	5.47	5.47	0.80525	.	0.167885	0.53938	D	0.000050	T	0.02156	0.0067	N	0.19112	0.55	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.61053	-0.7140	10	0.59425	D	0.04	.	18.6836	0.91556	0.0:0.0:1.0:0.0	.	228	Q9Y4X4	KLF12_HUMAN	L	228	ENSP00000366897:P228L;ENSP00000366894:P228L	ENSP00000344057:P228L	P	-	2	0	KLF12	73285413	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.113000	0.71553	2.721000	0.93114	0.655000	0.94253	CCC	.	.	none		0.433	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		A	74387412	G	A	74387412	3	1	22	1	0	0	0	0	1	0	0	0	8340	1232	43	2	541	2	KLF12	13	74387412	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1017770	74387412	40782466	7202	12310										
TBC1D4	9882	hgsc.bcm.edu	37	chr13	75861001	75861001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaacaggtcacaattgActagagcatccgcgggcagc	11	12	2	2	rs557337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:75861001A>G	ENST00000377636.3	-	21	4170	c.3824T>C	c.(3823-3825)gTc>gCc	p.V1275A	TBC1D4_ENST00000431480.2_Missense_Mutation_p.V1267A|TBC1D4_ENST00000425511.1_Missense_Mutation_p.V439A|TBC1D4_ENST00000377625.2_Missense_Mutation_p.V1212A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1275			V -> A (in dbSNP:rs557337). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19077034, ECO:0000269|PubMed:9628581}.		cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTCACAATTGACTAGAGCATC	0.463													G|||	873	0.174321	0.556	0.0778	5008	,	,		16760	0.0		0.0666	False		,,,				2504	0.0174				p.V1275A		Atlas-SNP	.											.	TBC1D4	142	.	0			c.T3824C						PASS	.	G	ALA/VAL	1770,2058		428,914,572	104	107	106		3824	3.9	0	13	dbSNP_83	106	484,7778		13,458,3660	yes	missense	TBC1D4	NM_014832.2	64	441,1372,4232	GG,GA,AA		5.8581,46.2382,18.6435	benign	1275/1299	75861001	2254,9836	1914	4131	6045	SO:0001583	missense	9882	exon21			CAATTGACTAGAG	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3824T>C	13.37:g.75861001A>G	ENSP00000366863:p.Val1275Ala	Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	333	166	0.498498	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	333	0.15247252747252749	256	0.5203252032520326	32	0.08839779005524862	0	0.0	45	0.059366754617414245	G	0.218	-1.030972	0.02029	0.462382	0.058581	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.03358	4.23;4.23;4.23;3.96	5.63	3.87	0.44632	.	0.297360	0.28841	N	0.013979	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.38329	-0.9666	9	0.02654	T	1	-5.6523	10.4567	0.44555	0.2148:0.0:0.7852:0.0	rs557337;rs52811417;rs60191388;rs557337	439;1212;1267;1275	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	A	1275;1267;1212;439	ENSP00000366863:V1275A;ENSP00000395986:V1267A;ENSP00000366852:V1212A;ENSP00000390654:V439A	ENSP00000366852:V1212A	V	-	2	0	TBC1D4	74759002	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	4.134000	0.57990	0.847000	0.35167	-0.119000	0.15052	GTC	A|0.827;G|0.173	0.173	strong		0.463	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		G	75861001	A	G	75861001	3	3	22	1	0	0	0	0	1	0	0	0	15619	275	10	2	76	2	TBC1D4	13	75861001	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1473589	75861001	39308877	7203	12311										
LMO7	4008	hgsc.bcm.edu	37	chr13	76195833	76195833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttattacaactgctatgAagaaaattaggatatgccat	6	5	0	2	rs143470231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:76195833A>G	ENST00000341547.4	+	1	1264	c.4A>G	c.(4-6)Aag>Gag	p.K2E	LMO7_ENST00000357063.3_Missense_Mutation_p.K2E|RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA|RP11-173B14.5_ENST00000568302.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.K2E	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	2					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACTGCTATGAAGAAAATTAG	0.363													A|||	57	0.0113818	0.0378	0.0101	5008	,	,		17645	0.0		0.0	False		,,,				2504	0.0				p.K2E		Atlas-SNP	.											LMO7_ENST00000357063,colon,carcinoma,-2,2	LMO7	334	2	0			c.A4G						PASS	.	A	GLU/LYS	168,4238	101.6+/-140.2	4,160,2039	40	38	39		4	1	0.2	13	dbSNP_134	39	0,8600		0,0,4300	yes	missense	LMO7	NM_005358.5	56	4,160,6339	GG,GA,AA		0.0,3.813,1.2917		2/1350	76195833	168,12838	2203	4300	6503	SO:0001583	missense	4008	exon1			GCTATGAAGAAAA	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.4A>G	13.37:g.76195833A>G	ENSP00000342112:p.Lys2Glu	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	A	15.96	2.985987	0.53934	0.03813	0.0	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.35048	1.33;1.39;1.44	5.23	1.02	0.19986	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	D	0.57257	0.979	P	0.53266	0.722	T	0.11891	-1.0569	8	0.87932	D	0	.	1.7898	0.03049	0.5679:0.1723:0.0937:0.166	.	2	Q8WWI1-3	.	E	2	ENSP00000342112:K2E;ENSP00000349571:K2E;ENSP00000366757:K2E	ENSP00000342112:K2E	K	+	1	0	LMO7	75093834	0.987000	0.35691	0.226000	0.23910	0.335000	0.28730	2.364000	0.44187	0.796000	0.33947	0.460000	0.39030	AAG	A|0.987;G|0.013	0.013	strong		0.363	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		G	76195833	A	G	76195833	3	3	22	1	0	0	0	0	1	0	0	0	8855	247	9	2	6	2	LMO7	13	76195833	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	334832	76195833	38974045	7204	12312										
MYCBP2	23077	hgsc.bcm.edu	37	chr13	77738664	77738664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggctaattctttttccaAttggatgactccctatggaa	7	8	1	1	rs2274547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:77738664A>G	ENST00000544440.2	-	43	6375	c.6358T>C	c.(6358-6360)Ttg>Ctg	p.L2120L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L2120L|MYCBP2_ENST00000407578.2_Silent_p.L2158L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTTTTCCAATTGGATGACT	0.368													A|||	1153	0.230232	0.093	0.0965	5008	,	,		19334	0.3661		0.169	False		,,,				2504	0.4335				p.L2158L		Atlas-SNP	.											.	MYCBP2	1029	.	0			c.T6472C						PASS	.	A		520,3886	235.5+/-248.0	28,464,1711	90	84	86		6472	0.5	1	13	dbSNP_100	86	1459,7141	277.8+/-293.0	105,1249,2946	no	coding-synonymous	MYCBP2	NM_015057.4		133,1713,4657	GG,GA,AA		16.9651,11.8021,15.2161		2158/4679	77738664	1979,11027	2203	4300	6503	SO:0001819	synonymous_variant	23077	exon43			TTTCCAATTGGAT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6358T>C	13.37:g.77738664A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_015057		Silent	SNP	ENST00000544440.2	37																																																																																				A|0.832;G|0.168	0.168	strong		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77738664	A	G	77738664	2	3	22	1	0	0	0	0	0	0	0	1	10018	98	4	2		2	MYCBP2	13	77738664	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1542831	77738664	37431214	7205	12313										
NDFIP2	54602	hgsc.bcm.edu	37	chr13	80094993	80094993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcggctatagagcagccaCctacttcaaacccagcaccg	7	16	1	1	rs55887763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:80094993C>T	ENST00000218652.7	+	2	422	c.370C>T	c.(370-372)Cct>Tct	p.P124S	NDFIP2_ENST00000494647.1_3'UTR	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	124			P -> S (in dbSNP:rs55887763).		negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		AGAGCAGCCACCTACTTCAAA	0.403													T|||	254	0.0507188	0.1838	0.0101	5008	,	,		15571	0.0		0.004	False		,,,				2504	0.0				p.P124S		Atlas-SNP	.											.	NDFIP2	23	.	0			c.C370T						PASS	.	T	SER/PRO,SER/PRO	641,3765	767.1+/-413.5	43,555,1605	89	82	84		370,370	5.8	0.3	13	dbSNP_129	84	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense	NDFIP2	NM_001161407.1,NM_019080.2	74,74	43,557,5903	TT,TC,CC		0.0233,14.5483,4.9439	benign,benign	124/317,124/337	80094993	643,12363	2203	4300	6503	SO:0001583	missense	54602	exon2			CAGCCACCTACTT	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.370C>T	13.37:g.80094993C>T	ENSP00000218652:p.Pro124Ser	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	117	57	0.487179	NM_019080	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	CCDS31998.1	102	0.046703296703296704	99	0.20121951219512196	3	0.008287292817679558	0	0.0	0	0.0	T	1.479	-0.557610	0.03967	0.145483	2.33E-4	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.25912	1.78;1.77	5.75	5.75	0.90469	.	0.192068	0.47455	N	0.000229	T	0.00012	0.0000	N	0.00210	-1.845	0.49213	P	2.3799999999996047E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29274	-1.0017	9	0.02654	T	1	-11.3844	11.0315	0.47776	0.0:0.0739:0.0:0.9261	rs55887763;rs58237612	30;124	B4DGY6;Q9NV92	.;NFIP2_HUMAN	S	124;41	ENSP00000218652:P124S;ENSP00000419200:P41S	ENSP00000218652:P124S	P	+	1	0	NDFIP2	78992994	0.995000	0.38212	0.331000	0.25455	0.299000	0.27559	3.411000	0.52672	1.003000	0.39130	-0.254000	0.11334	CCT	C|0.952;T|0.048	0.048	strong		0.403	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			T	80094993	C	T	80094993	3	4	22	1	0	0	0	0	1	0	0	0	10246	507	18	2	376	2	NDFIP2	13	80094993	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2356329	80094993	35074885	7206	12314										
ABCC4	10257	hgsc.bcm.edu	37	chr13	95696540	95696540	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggatccacatttgccgtCgcttcatcaataatcaatat	5	11	3	0	rs11568695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:95696540C>T	ENST00000376887.4	-	28	3723	c.3609G>A	c.(3607-3609)gcG>gcA	p.A1203A	ABCC4_ENST00000412704.1_Silent_p.A1156A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1203	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CATTTGCCGTCGCTTCATCAA	0.398													C|||	225	0.0449281	0.1604	0.013	5008	,	,		19815	0.001		0.002	False		,,,				2504	0.001				p.A1203A		Atlas-SNP	.											ABCC4_ENST00000376887,colon,carcinoma,-1,2	ABCC4	248	2	0			c.G3609A						PASS	.	C		644,3762	270.4+/-269.6	52,540,1611	72	64	66		3609	-6.7	0.9	13	dbSNP_126	66	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	ABCC4	NM_005845.3		52,550,5901	TT,TC,CC		0.1163,14.6164,5.0284		1203/1326	95696540	654,12352	2203	4300	6503	SO:0001819	synonymous_variant	10257	exon28			TGCCGTCGCTTCA	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.3609G>A	13.37:g.95696540C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																			C|0.950;T|0.050	0.050	strong		0.398	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		T	95696540	C	T	95696540	2	4	22	1	0	0	0	0	0	0	0	1	55	871	31	1		1	ABCC4	13	95696540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15601547	95696540	19473338	7207	12315										
ABCC4	10257	hgsc.bcm.edu	37	chr13	95953517	95953517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaacacgcgtgagcagaGgttcgcgtcctgcagcgggt	16	10	0	3	rs11568681	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:95953517G>T	ENST00000376887.4	-	1	166	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	ABCC4_ENST00000538287.1_Missense_Mutation_p.L18I|ABCC4_ENST00000431522.1_Missense_Mutation_p.L18I|ABCC4_ENST00000536256.1_Missense_Mutation_p.L18I|ABCC4_ENST00000412704.1_Missense_Mutation_p.L18I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	18			L -> I (in dbSNP:rs11568681). {ECO:0000269|PubMed:12105214, ECO:0000269|PubMed:9661885}.		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)	CGTGAGCAGAGGTTCGCGTCC	0.731													G|||	96	0.0191693	0.0113	0.0101	5008	,	,		8925	0.0238		0.0139	False		,,,				2504	0.0368				p.L18I		Atlas-SNP	.											.	ABCC4	248	.	0			c.C52A						PASS	.	G	ILE/LEU,ILE/LEU	56,4346		0,56,2145	42	34	37		52,52	2.8	1	13	dbSNP_126	37	177,8421		1,175,4123	yes	missense,missense	ABCC4	NM_001105515.1,NM_005845.3	5,5	1,231,6268	TT,TG,GG		2.0586,1.2721,1.7923	benign,benign	18/860,18/1326	95953517	233,12767	2201	4299	6500	SO:0001583	missense	10257	exon1			AGCAGAGGTTCGC	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.52C>A	13.37:g.95953517G>T	ENSP00000366084:p.Leu18Ile	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	90	36	0.4	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	37	0.01694139194139194	10	0.02032520325203252	4	0.011049723756906077	14	0.024475524475524476	9	0.011873350923482849	G	9.770	1.172476	0.21704	0.012721	0.020586	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522;ENST00000538287	T;T;T;T;T	0.76578	-0.44;-0.44;-0.44;-0.44;-1.03	3.7	2.84	0.33178	.	0.221391	0.39544	N	0.001328	T	0.48857	0.1523	L	0.35854	1.095	0.38911	D	0.957549	B;B;B;B	0.30937	0.243;0.016;0.001;0.301	B;B;B;B	0.32677	0.04;0.02;0.003;0.15	T	0.51911	-0.8645	10	0.16420	T	0.52	.	9.1873	0.37178	0.0:0.2234:0.7766:0.0	rs11568681;rs45493095;rs11568681	18;18;18;18	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	18	ENSP00000388657:L18I;ENSP00000366084:L18I;ENSP00000442024:L18I;ENSP00000398562:L18I;ENSP00000440160:L18I	ENSP00000366084:L18I	L	-	1	0	ABCC4	94751518	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	0.299000	0.19138	0.868000	0.35678	0.305000	0.20034	CTC	G|0.982;T|0.018	0.018	strong		0.731	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		T	95953517	G	T	95953517	3	4	22	1	0	0	0	0	1	0	0	0	55	1000	35	4	4098	4	ABCC4	13	95953517	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	256977	95953517	19216361	7208	12316										
UGGT2	55757	hgsc.bcm.edu	37	chr13	96508566	96508566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagttcatatcggaatccaTactctttagccatgtgagga	8	9	2	1	rs35123499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:96508566T>A	ENST00000376747.3	-	34	3924	c.3854A>T	c.(3853-3855)tAt>tTt	p.Y1285F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1285	Glucosyltransferase.		Y -> F (in dbSNP:rs35123499).		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						TCGGAATCCATACTCTTTAGC	0.348													T|||	91	0.0181709	0.0666	0.0029	5008	,	,		15927	0.0		0.001	False		,,,				2504	0.0				p.Y1285F		Atlas-SNP	.											.	UGGT2	127	.	0			c.A3854T						PASS	.	T	PHE/TYR	247,4159	142.7+/-177.9	6,235,1962	112	119	116		3854	5.2	1	13	dbSNP_126	116	0,8600		0,0,4300	yes	missense	UGGT2	NM_020121.3	22	6,235,6262	AA,AT,TT		0.0,5.606,1.8991	probably-damaging	1285/1517	96508566	247,12759	2203	4300	6503	SO:0001583	missense	55757	exon34			AATCCATACTCTT	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.3854A>T	13.37:g.96508566T>A	ENSP00000365938:p.Tyr1285Phe	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	177	88	0.497175	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	T	25.9	4.680767	0.88542	0.05606	0.0	ENSG00000102595	ENST00000376747	T	0.40756	1.02	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	L	0.53671	1.685	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.41106	-0.9527	10	0.87932	D	0	-16.5421	15.0092	0.71536	0.0:0.0:0.0:1.0	rs35123499	1285	Q9NYU1	UGGG2_HUMAN	F	1285	ENSP00000365938:Y1285F	ENSP00000365938:Y1285F	Y	-	2	0	UGGT2	95306567	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.698000	0.84413	1.936000	0.56123	0.533000	0.62120	TAT	T|0.980;A|0.020	0.020	strong		0.348	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		A	96508566	T	A	96508566	3	1	22	1	0	0	0	0	1	0	0	0	16939	1406	49	5	720	5	UGGT2	13	96508566	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	555049	96508566	18661312	7209	12317										
UGGT2	55757	hgsc.bcm.edu	37	chr13	96648384	96648384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctctacagtagtattagTcacagctacattttggaaac	6	9	2	0	rs73562939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:96648384T>C	ENST00000376747.3	-	7	833	c.763A>G	c.(763-765)Act>Gct	p.T255A	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Missense_Mutation_p.T255A|UGGT2_ENST00000397618.3_Missense_Mutation_p.T255A|UGGT2_ENST00000376712.4_Missense_Mutation_p.T255A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	255					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						GTAGTATTAGTCACAGCTACA	0.328													T|||	102	0.0203674	0.0749	0.0029	5008	,	,		18668	0.0		0.001	False		,,,				2504	0.0				p.T255A		Atlas-SNP	.											.	UGGT2	127	.	0			c.A763G						PASS	.	T	ALA/THR	288,4116	158.1+/-190.9	10,268,1924	117	127	124		763	5.8	0.9	13	dbSNP_130	124	0,8598		0,0,4299	yes	missense	UGGT2	NM_020121.3	58	10,268,6223	CC,CT,TT		0.0,6.5395,2.215	benign	255/1517	96648384	288,12714	2202	4299	6501	SO:0001583	missense	55757	exon7			TATTAGTCACAGC	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.763A>G	13.37:g.96648384T>C	ENSP00000365938:p.Thr255Ala	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	215	98	0.455814	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	T	13.13	2.145554	0.37923	0.065395	0.0	ENSG00000102595	ENST00000376747;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.29397	1.57;1.57	5.84	5.84	0.93424	.	0.872316	0.10306	N	0.690619	T	0.02970	0.0088	L	0.60845	1.875	0.31130	N	0.707877	P;P;B	0.42692	0.787;0.787;0.004	B;B;B	0.36567	0.228;0.228;0.004	T	0.11966	-1.0566	10	0.87932	D	0	-2.0224	15.19	0.73035	0.0:0.0:0.0:1.0	.	255;255;255	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	A	255	ENSP00000365938:T255A;ENSP00000380743:T255A	ENSP00000365902:T255A	T	-	1	0	UGGT2	95446385	0.651000	0.27340	0.866000	0.34008	0.846000	0.48090	2.811000	0.47986	2.231000	0.72958	0.397000	0.26171	ACT	T|0.976;C|0.024	0.024	strong		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		C	96648384	T	C	96648384	3	2	22	1	0	0	0	0	1	0	0	0	16939	1667	58	2	3919	2	UGGT2	13	96648384	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139818	96648384	18521494	7210	12318										
CLYBL	171425	hgsc.bcm.edu	37	chr13	100425097	100425097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaagcgtctctagcagctGatatccccagacttggatat	10	10	1	2	rs17577293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:100425097G>T	ENST00000376360.1	+	2	109	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	CLYBL_ENST00000376355.3_Missense_Mutation_p.D28Y|CLYBL_ENST00000444838.2_Missense_Mutation_p.D28Y|CLYBL_ENST00000376354.1_Missense_Mutation_p.D28Y|CLYBL_ENST00000339105.4_Missense_Mutation_p.D28Y			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	28			D -> Y (in dbSNP:rs17577293).			mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTAGCAGCTGATATCCCCAG	0.393													G|||	38	0.00758786	0.0	0.0029	5008	,	,		17913	0.0		0.0298	False		,,,				2504	0.0061				p.D28Y		Atlas-SNP	.											.	CLYBL	48	.	0			c.G82T						PASS	.	G	TYR/ASP	28,4378	35.2+/-66.4	0,28,2175	145	138	140		82	3.2	0	13	dbSNP_123	140	267,8333	102.3+/-163.5	7,253,4040	yes	missense	CLYBL	NM_206808.2	160	7,281,6215	TT,TG,GG		3.1047,0.6355,2.2682	possibly-damaging	28/341	100425097	295,12711	2203	4300	6503	SO:0001583	missense	171425	exon2			GCAGCTGATATCC	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.82G>T	13.37:g.100425097G>T	ENSP00000365538:p.Asp28Tyr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	21	0.009615384615384616	0	0.0	0	0.0	0	0.0	21	0.027704485488126648	G	12.73	2.024971	0.35701	0.006355	0.031047	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.25085	1.85;1.82;1.85;1.85;1.82	5.0	3.21	0.36854	.	1.112960	0.06569	N	0.748186	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	P;P;P	0.42785	0.79;0.785;0.454	B;B;B	0.38500	0.275;0.26;0.135	T	0.11616	-1.0580	10	0.59425	D	0.04	.	6.0792	0.19933	0.1735:0.1526:0.6739:0.0	rs17577293;rs52796069;rs17577293	28;28;28	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	Y	28	ENSP00000365533:D28Y;ENSP00000365538:D28Y;ENSP00000404768:D28Y;ENSP00000365532:D28Y;ENSP00000342991:D28Y	ENSP00000342991:D28Y	D	+	1	0	CLYBL	99223098	0.123000	0.22298	0.001000	0.08648	0.074000	0.17049	0.748000	0.26305	1.074000	0.40909	0.462000	0.41574	GAT	G|0.982;T|0.018	0.018	strong		0.393	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			T	100425097	G	T	100425097	3	4	22	1	0	0	0	0	1	0	0	0	3573	1290	45	4	88	4	CLYBL	13	100425097	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3776713	100425097	14744781	7211	12319										
CLYBL	171425	hgsc.bcm.edu	37	chr13	100511247	100511247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacccttttgcaatcccggGtccttccttccagcctgatg	8	15	0	2	rs35680839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:100511247G>A	ENST00000376360.1	+	3	409	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	CLYBL_ENST00000376355.3_Missense_Mutation_p.V128I|CLYBL_ENST00000444838.2_Missense_Mutation_p.V128I|CLYBL_ENST00000376354.1_Missense_Mutation_p.V128I|CLYBL_ENST00000339105.4_Missense_Mutation_p.V128I			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	128			V -> I (in dbSNP:rs35680839).			mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAATCCCGGGTCCTTCCTTC	0.493													G|||	273	0.0545128	0.0	0.0764	5008	,	,		17544	0.1558		0.0487	False		,,,				2504	0.0143				p.V128I		Atlas-SNP	.											.	CLYBL	48	.	0			c.G382A						PASS	.	G	ILE/VAL	51,4355	50.9+/-86.3	0,51,2152	74	69	71		382	4.2	1	13	dbSNP_126	71	391,8209	124.4+/-183.2	15,361,3924	yes	missense	CLYBL	NM_206808.2	29	15,412,6076	AA,AG,GG		4.5465,1.1575,3.3984	benign	128/341	100511247	442,12564	2203	4300	6503	SO:0001583	missense	171425	exon3			TCCCGGGTCCTTC	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.382G>A	13.37:g.100511247G>A	ENSP00000365538:p.Val128Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	122	59	0.483607	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	160	0.07326007326007326	0	0.0	26	0.0718232044198895	102	0.17832167832167833	32	0.04221635883905013	G	13.06	2.124978	0.37533	0.011575	0.045465	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000416504;ENST00000443887	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.91	4.17	0.49024	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.352028	0.32655	N	0.005815	T	0.00039	0.0001	L	0.40543	1.245	0.26918	P	0.9667446	B;B;B	0.20550	0.034;0.046;0.034	B;B;B	0.22152	0.029;0.017;0.038	T	0.15009	-1.0452	9	0.26408	T	0.33	-16.5761	10.1485	0.42778	0.2151:0.0:0.7849:0.0	rs35680839	128;128;128	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	I	128;128;128;128;128;45;45	ENSP00000365533:V128I;ENSP00000365538:V128I;ENSP00000404768:V128I;ENSP00000365532:V128I;ENSP00000342991:V128I;ENSP00000403408:V45I;ENSP00000401586:V45I	ENSP00000342991:V128I	V	+	1	0	CLYBL	99309248	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.470000	0.53100	1.503000	0.48686	0.655000	0.94253	GTC	G|0.956;A|0.044	0.044	strong		0.493	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			A	100511247	G	A	100511247	3	1	22	1	0	0	0	0	1	0	0	0	3573	1261	44	2	392	2	CLYBL	13	100511247	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86150	100511247	14658631	7212	12320										
PCCA	5095	hgsc.bcm.edu	37	chr13	100992428	100992428	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacacatgctaaccaagAgtgagaagaaccagttattg	10	8	0	3	rs112237881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:100992428A>T	ENST00000376285.1	+	18	1596	c.1558A>T	c.(1558-1560)Agt>Tgt	p.S520C	PCCA_ENST00000376279.3_Missense_Mutation_p.S520C|PCCA_ENST00000376286.4_Missense_Mutation_p.S494C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	520					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GCTAACCAAGAGTGAGAAGAA	0.348													A|||	14	0.00279553	0.0098	0.0014	5008	,	,		20036	0.0		0.0	False		,,,				2504	0.0				p.S520C		Atlas-SNP	.											.	PCCA	59	.	0			c.A1558T						PASS	.	A	CYS/SER,CYS/SER,CYS/SER	18,4388	25.3+/-52.1	0,18,2185	145	133	137		1558,1480,1558	4.1	0	13	dbSNP_132	137	0,8600		0,0,4300	yes	missense,missense,missense	PCCA	NM_000282.3,NM_001127692.2,NM_001178004.1	112,112,112	0,18,6485	TT,TA,AA		0.0,0.4085,0.1384	benign,benign,benign	520/729,494/703,520/682	100992428	18,12988	2203	4300	6503	SO:0001583	missense	5095	exon18			ACCAAGAGTGAGA	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1558A>T	13.37:g.100992428A>T	ENSP00000365462:p.Ser520Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	94	43	0.457447	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	6|6	0.0027472527472527475|0.0027472527472527475	5|5	0.01016260162601626|0.01016260162601626	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	A|A	11.63|11.63	1.697151|1.697151	0.30142|0.30142	0.004085|0.004085	0.0|0.0	ENSG00000175198|ENSG00000175198	ENST00000443601|ENST00000376286;ENST00000376279;ENST00000376285;ENST00000424527;ENST00000376254;ENST00000536640	.|D;D;D;D	.|0.97186	.|-4.27;-4.25;-4.28;-1.72	5.3|5.3	4.08|4.08	0.47627|0.47627	.|.	.|1.227710	.|0.05174	.|N	.|0.499995	D|D	0.94165|0.94165	0.8128|0.8128	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.29886	.|0.26;0.221;0.26	.|B;B;B	.|0.41440	.|0.246;0.357;0.246	D|D	0.88437|0.88437	0.3039|0.3039	5|10	.|0.66056	.|D	.|0.02	.|.	11.3631|11.3631	0.49655|0.49655	0.693:0.307:0.0:0.0|0.693:0.307:0.0:0.0	.|.	.|520;494;520	.|C9JPQ8;P05165-2;P05165	.|.;.;PCCA_HUMAN	S|C	111|494;520;520;54;111;16	.|ENSP00000365463:S494C;ENSP00000365456:S520C;ENSP00000365462:S520C;ENSP00000396050:S54C	.|ENSP00000365430:S111C	R|S	+|+	3|1	2|0	PCCA|PCCA	99790429|99790429	0.447000|0.447000	0.25673|0.25673	0.022000|0.022000	0.16811|0.16811	0.327000|0.327000	0.28475|0.28475	1.075000|1.075000	0.30716|0.30716	0.923000|0.923000	0.37045|0.37045	0.528000|0.528000	0.53228|0.53228	AGA|AGT	A|0.997;T|0.003	0.003	strong		0.348	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			T	100992428	A	T	100992428	3	4	22	1	0	0	0	0	1	0	0	0	11504	304	11	5	1628	5	PCCA	13	100992428	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	481181	100992428	14177450	7213	12321										
NALCN	259232	hgsc.bcm.edu	37	chr13	101720300	101720300	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatccaccatgttccatatTatttgaaagtggcgaagatc	7	9	1	2	rs1289556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:101720300T>G	ENST00000251127.6	-	39	4497	c.4416A>C	c.(4414-4416)atA>atC	p.I1472I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1472					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTCCATATTATTTGAAAGT	0.363													G|||	2018	0.402955	0.7519	0.2752	5008	,	,		19628	0.1171		0.3608	False		,,,				2504	0.3599				p.I1472I		Atlas-SNP	.											.	NALCN	431	.	0			c.A4416C						PASS	.	G		3159,1247	428.3+/-341.8	1136,887,180	123	119	120		4416	5.9	1	13	dbSNP_87	120	3118,5482	657.8+/-401.5	580,1958,1762	no	coding-synonymous	NALCN	NM_052867.2		1716,2845,1942	GG,GT,TT		36.2558,28.3023,48.2623		1472/1739	101720300	6277,6729	2203	4300	6503	SO:0001819	synonymous_variant	259232	exon39			CCATATTATTTGA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4416A>C	13.37:g.101720300T>G		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	127	126	0.992126	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																			T|0.558;G|0.442	0.442	strong		0.363	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		G	101720300	T	G	101720300	2	3	22	1	0	0	0	0	0	0	0	1	10148	1744	61	5		5	NALCN	13	101720300	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	727872	101720300	13449578	7214	12322										
ITGBL1	9358	hgsc.bcm.edu	37	chr13	102227872	102227872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgatagagaatgcatagaCgatgaaacagaagaaatatg	11	4	0	5	rs3916912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:102227872C>T	ENST00000376180.3	+	4	780	c.561C>T	c.(559-561)gaC>gaT	p.D187D	ITGBL1_ENST00000376162.3_Silent_p.D94D|ITGBL1_ENST00000545560.2_Silent_p.D46D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	187	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATAGACGATGAAACAG	0.348													C|||	665	0.132788	0.2587	0.1081	5008	,	,		17994	0.001		0.1809	False		,,,				2504	0.0665				p.D187D		Atlas-SNP	.											.	ITGBL1	83	.	0			c.C561T						PASS	.	C		953,3453	363.1+/-316.4	102,749,1352	231	215	221		561	-0.7	1	13	dbSNP_108	221	1533,7067	289.7+/-299.4	149,1235,2916	no	coding-synonymous	ITGBL1	NM_004791.1		251,1984,4268	TT,TC,CC		17.8256,21.6296,19.1143		187/495	102227872	2486,10520	2203	4300	6503	SO:0001819	synonymous_variant	9358	exon4			CATAGACGATGAA	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.561C>T	13.37:g.102227872C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	146	76	0.520548	NM_004791	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	CCDS9499.1																																																																																			C|0.831;T|0.169	0.169	strong		0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		T	102227872	C	T	102227872	2	4	22	1	0	0	0	0	0	0	0	1	7902	535	19	1		1	ITGBL1	13	102227872	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	507572	102227872	12942006	7215	12323										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103506690	103506690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagaaaacgacctctatGttttgcctcctttacaagag	8	9	1	2	rs4987063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:103506690G>A	ENST00000355739.4	+	4	1856	c.433G>A	c.(433-435)Gtt>Att	p.V145I	ERCC5_ENST00000535557.1_Missense_Mutation_p.V145I|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C570Y	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	145			V -> I (in dbSNP:rs4987063).		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGACCTCTATGTTTTGCCTCC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	35	0.00698882	0.0257	0.0014	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0				p.V599I		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.G1795A						PASS	.	G	ILE/VAL,ILE/VAL	91,4315	74.7+/-112.8	2,87,2114	123	116	118		1795,433	2.4	0.2	13	dbSNP_111	118	0,8600		0,0,4300	yes	missense,missense	ERCC5,BIVM-ERCC5	NM_001204425.1,NM_000123.3	29,29	2,87,6414	AA,AG,GG		0.0,2.0654,0.6997	benign,benign	599/1641,145/1187	103506690	91,12915	2203	4300	6503	SO:0001583	missense	0	exon12	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTCTATGTTTTGC	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.433G>A	13.37:g.103506690G>A	ENSP00000347978:p.Val145Ile	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	35	0.364583	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	4.272	0.049520	0.08243	0.020654	0.0	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.23147	3.49;1.92	6.03	2.39	0.29439	.	0.420080	0.25570	N	0.029763	T	0.07413	0.0187	L	0.28556	0.865	0.26071	N	0.981225	B;B;B	0.22080	0.038;0.064;0.051	B;B;B	0.23275	0.045;0.014;0.01	T	0.18209	-1.0344	10	0.25751	T	0.34	-2.6138	5.2232	0.15379	0.2217:0.0:0.6337:0.1446	rs4987063	145;145;570	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	I	570;145;145	ENSP00000347978:V145I;ENSP00000442117:V145I	ENSP00000347978:V145I	V	+	1	0	ERCC5	102304691	0.999000	0.42202	0.227000	0.23927	0.161000	0.22273	3.038000	0.49783	0.424000	0.26061	-0.136000	0.14681	GTT	G|0.993;A|0.007	0.007	strong		0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103506690	G	A	103506690	3	1	22	1	0	0	0	0	1	0	0	0	5216	1377	48	2	447	2	ERCC5	13	103506690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1278818	103506690	11663188	7216	12324										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103514939	103514939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacaaatgtcacttgttcaCgtggggactgaagcctttcc	10	10	2	1	rs4150316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:103514939C>T	ENST00000355739.4	+	8	2863	c.1440C>T	c.(1438-1440)caC>caT	p.H480H	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R906C	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	480					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACTTGTTCACGTGGGGACTG	0.493			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	180	0.0359425	0.1331	0.0043	5008	,	,		20640	0.0		0.001	False		,,,				2504	0.0				p.H934H		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.C2802T						PASS	.	C	,	495,3911	228.8+/-243.5	32,431,1740	71	60	64		1440,2802	-10.5	0	13	dbSNP_110	64	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous,coding-synonymous	ERCC5,BIVM-ERCC5	NM_000123.3,NM_001204425.1	,	32,444,6027	TT,TC,CC		0.1512,11.2347,3.9059	,	480/1187,934/1641	103514939	508,12498	2203	4300	6503	SO:0001819	synonymous_variant	0	exon16	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TGTTCACGTGGGG	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1440C>T	13.37:g.103514939C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	120	69	0.575	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																			C|0.959;T|0.041	0.041	strong		0.493	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103514939	C	T	103514939	2	4	22	1	0	0	0	0	0	0	0	1	5216	535	19	1		1	ERCC5	13	103514939	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8249	103514939	11654939	7217	12325										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103518036	103518036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtttcattgaagtgcaAagtgtgattagtgatgagga	14	2	1	4	rs55686372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:103518036A>G	ENST00000355739.4	+	9	3397	c.1974A>G	c.(1972-1974)caA>caG	p.Q658Q	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.K1084E	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	658					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAAGTGCAAAGTGTGATTA	0.413			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A|||	27	0.00539137	0.0197	0.0014	5008	,	,		18928	0.0		0.0	False		,,,				2504	0.0				p.Q1112Q		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	.	.	.	0			c.A3336G						PASS	.	A	,	74,4332	64.1+/-101.4	2,70,2131	33	32	32		1974,3336	-1.4	0.5	13	dbSNP_129	32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ERCC5,BIVM-ERCC5	NM_000123.3,NM_001204425.1	,	2,70,6431	GG,GA,AA		0.0,1.6795,0.569	,	658/1187,1112/1641	103518036	74,12932	2203	4300	6503	SO:0001819	synonymous_variant	0	exon17	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AGTGCAAAGTGTG	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1974A>G	13.37:g.103518036A>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	63	29	0.460317	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																			A|0.995;G|0.005	0.005	strong		0.413	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			G	103518036	A	G	103518036	2	3	22	1	0	0	0	0	0	0	0	1	5216	11	1	2		2	ERCC5	13	103518036	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3097	103518036	11651842	7218	12326										
ERCC5	2073	hgsc.bcm.edu	37	chr13	103519119	103519119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctggctgtttggagcgcgGcatgtctatagaaacttttt	11	7	2	1	rs73573973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:103519119G>A	ENST00000355739.4	+	11	3880	c.2457G>A	c.(2455-2457)cgG>cgA	p.R819R	ERCC5_ENST00000375954.1_Silent_p.R52R|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.A1245T	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	819	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGGAGCGCGGCATGTCTATA	0.423			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	35	0.00698882	0.0257	0.0014	5008	,	,		18124	0.0		0.0	False		,,,				2504	0.0				p.R1273R		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	ERCC5,NS,carcinoma,+2,1	.	.	1	0			c.G3819A						PASS	.	G	,	91,4315	75.2+/-113.4	2,87,2114	57	58	58		2457,3819	3.1	1	13	dbSNP_130	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ERCC5,BIVM-ERCC5	NM_000123.3,NM_001204425.1	,	2,87,6414	AA,AG,GG		0.0,2.0654,0.6997	,	819/1187,1273/1641	103519119	91,12915	2203	4300	6503	SO:0001819	synonymous_variant	0	exon19	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AGCGCGGCATGTC	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2457G>A	13.37:g.103519119G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	74	35	0.472973	NM_001204425	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																			G|0.994;A|0.006	0.006	strong		0.423	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103519119	G	A	103519119	2	1	22	1	0	0	0	0	0	0	0	1	5216	1190	42	2		2	ERCC5	13	103519119	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1083	103519119	11650759	7219	12327										
DAOA	267012	hgsc.bcm.edu	37	chr13	106119446	106119446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacttcataggttttcaaaGgagcattcttctgagcaaat	7	8	4	1	rs2391191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:106119446G>A	ENST00000375936.3	+	2	135	c.89G>A	c.(88-90)aGg>aAg	p.R30K	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	30			R -> K (in dbSNP:rs2391191). {ECO:0000269|PubMed:12364586}.		negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGTTTTCAAAGGAGCATTCTT	0.299													G|||	1812	0.361821	0.0673	0.4049	5008	,	,		15285	0.626		0.3877	False		,,,				2504	0.4305				p.R30K		Atlas-SNP	.											.	DAOA	26	.	0			c.G89A	GRCh37	CM045704	DAOA	M	rs2391191	PASS	.	G	,,LYS/ARG	411,3175		32,347,1414	85	82	83	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,89	-0.3	0	13	dbSNP_100	83	3026,5090		573,1880,1605	yes	utr-5,utr-5,missense	DAOA	NM_001161812.1,NM_001161814.1,NM_172370.3	,,26	605,2227,3019	AA,AG,GG		37.2844,11.4612,29.371	,,	,,30/154	106119446	3437,8265	1793	4058	5851	SO:0001583	missense	267012	exon2			TTCAAAGGAGCAT	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.89G>A	13.37:g.106119446G>A	ENSP00000365103:p.Arg30Lys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_172370	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	CCDS41905.1	844	0.38644688644688646	29	0.05894308943089431	143	0.39502762430939226	374	0.6538461538461539	298	0.39313984168865435	G	12.27	1.888219	0.33348	0.114612	0.372844	ENSG00000182346	ENST00000375936	T	0.29142	1.58	3.17	-0.301	0.12800	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.33103	0.397	B	0.28638	0.092	T	0.42865	-0.9426	8	0.09338	T	0.73	.	0.7383	0.00969	0.1871:0.2174:0.3739:0.2216	rs2391191;rs52812974;rs59455029;rs2391191	30	P59103	DAOA_HUMAN	K	30	ENSP00000365103:R30K	ENSP00000365103:R30K	R	+	2	0	DAOA	104917447	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	0.160000	0.16462	-0.095000	0.12351	0.557000	0.71058	AGG	G|0.570;A|0.430	0.430	strong		0.299	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		A	106119446	G	A	106119446	3	1	22	1	0	0	0	0	1	0	0	0	4232	1000	35	2	95	2	DAOA	13	106119446	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2600327	106119446	9050432	7220	12328										
MYO16	23026	hgsc.bcm.edu	37	chr13	109496813	109496813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcatccctgaaaaccccaTgatgagcggttccaccaaac	7	15	0	3	rs16973313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:109496813T>C	ENST00000357550.2	+	9	1195	c.1154T>C	c.(1153-1155)aTg>aCg	p.M385T	MYO16_ENST00000251041.5_Missense_Mutation_p.M385T|MYO16_ENST00000356711.2_Missense_Mutation_p.M385T	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)			GAAAACCCCATGATGAGCGGT	0.408													C|||	475	0.0948482	0.1392	0.0648	5008	,	,		16606	0.0734		0.1282	False		,,,				2504	0.044				p.M407T		Atlas-SNP	.											.	MYO16	285	.	0			c.T1220C						PASS	.	C	THR/MET,THR/MET	610,3796	769.6+/-413.7	42,526,1635	116	110	112		1220,1154	0.4	0	13	dbSNP_123	112	1147,7453	766.4+/-407.6	73,1001,3226	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	81,81	115,1527,4861	CC,CT,TT		13.3372,13.8448,13.5091	benign,benign	407/1881,385/1859	109496813	1757,11249	2203	4300	6503	SO:0001583	missense	23026	exon10			ACCCCATGATGAG		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.1154T>C	13.37:g.109496813T>C	ENSP00000350160:p.Met385Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	237	0.10851648351648352	76	0.15447154471544716	19	0.052486187845303865	49	0.08566433566433566	93	0.12269129287598944	C	0.009	-1.816107	0.00595	0.138448	0.133372	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.95001	-3.58;-3.58;-3.58	5.31	0.421	0.16451	.	1.080970	0.07352	N	0.882520	T	0.02156	0.0067	N	0.03177	-0.4	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47724	-0.9095	8	.	.	.	.	7.6801	0.28509	0.0:0.5358:0.1082:0.3561	rs16973313;rs56423595;rs16973313	385;385	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	T	385;385;385;385;173	ENSP00000349145:M385T;ENSP00000350160:M385T;ENSP00000251041:M385T	.	M	+	2	0	MYO16	108294814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.271000	0.08572	-0.159000	0.11021	-0.722000	0.03604	ATG	T|0.882;C|0.118	0.118	strong		0.408	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109496813	T	C	109496813	3	2	22	1	0	0	0	0	1	0	0	0	10064	1464	51	2	1188	2	MYO16	13	109496813	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3377367	109496813	5673065	7221	12329										
IRS2	8660	hgsc.bcm.edu	37	chr13	110435231	110435231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacaacgatgaggcggcgCccgggccctgggcggtggca	19	12	0	1	rs1805097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:110435231C>T	ENST00000375856.3	-	1	3684	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1057			G -> D (in dbSNP:rs1805097). {ECO:0000269|PubMed:12687350}.		brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGAGGCGGCGCCCGGGCCCTG	0.746													.|||	1419	0.283347	0.0938	0.4107	5008	,	,		7276	0.3929		0.3161	False		,,,				2504	0.3027				p.G1057D	Melanoma(100;613 2409 40847)	Atlas-SNP	.											.	IRS2	44	.	0			c.G3170A	GRCh37	CM003938	IRS2	M	rs1805097	PASS	.	C	ASP/GLY	464,3506		33,398,1554	5	5	5	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3170	2.1	0	13	dbSNP_89	5	2312,5652		359,1594,2029	yes	missense	IRS2	NM_003749.2	94	392,1992,3583	TT,TC,CC		29.0306,11.6877,23.2613	benign	1057/1339	110435231	2776,9158	1985	3982	5967	SO:0001583	missense	8660	exon1			GCGGCGCCCGGGC	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3170G>A	13.37:g.110435231C>T	ENSP00000365016:p.Gly1057Asp	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	17	14	0.823529	NM_003749	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	651	0.2980769230769231	55	0.11178861788617886	134	0.3701657458563536	225	0.39335664335664333	237	0.31266490765171506	C	5.984	0.365448	0.11352	0.116877	0.290306	ENSG00000185950	ENST00000375856	T	0.48522	0.81	4.13	2.11	0.27256	.	.	.	.	.	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.23650	0.089	B	0.19946	0.027	T	0.39761	-0.9598	8	0.35671	T	0.21	-3.4542	7.8389	0.29387	0.1819:0.6484:0.1697:0.0	rs1805097;rs17847224	1057	Q9Y4H2	IRS2_HUMAN	D	1057	ENSP00000365016:G1057D	ENSP00000365016:G1057D	G	-	2	0	IRS2	109233232	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.021000	0.30040	0.922000	0.37019	0.644000	0.83932	GGC	C|0.663;T|0.337	0.337	strong		0.746	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		T	110435231	C	T	110435231	3	4	22	1	0	0	0	0	1	0	0	0	7841	739	26	2	854	2	IRS2	13	110435231	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	938418	110435231	4734647	7222	12330										
COL4A1	1282	hgsc.bcm.edu	37	chr13	110804809	110804809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccaggcaggagccgggGgacgccagggcttggccaga	17	13	0	1	rs650724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:110804809G>A	ENST00000375820.4	-	51	4921	c.4800C>T	c.(4798-4800)tcC>tcT	p.S1600S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1600	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGAGCCGGGGGACGCCAGGG	0.597													G|||	634	0.126597	0.2292	0.2277	5008	,	,		18525	0.0089		0.1074	False		,,,				2504	0.0573				p.S1600S		Atlas-SNP	.											.	COL4A1	372	.	0			c.C4800T						PASS	.	G		893,3513	338.6+/-305.4	91,711,1401	46	40	42		4800	-0.8	0.3	13	dbSNP_83	42	849,7751	189.7+/-236.4	35,779,3486	no	coding-synonymous	COL4A1	NM_001845.4		126,1490,4887	AA,AG,GG		9.8721,20.2678,13.3938		1600/1670	110804809	1742,11264	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon51			GCCGGGGGACGCC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4800C>T	13.37:g.110804809G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	69	34	0.492754	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			G|0.870;A|0.130	0.130	strong		0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110804809	G	A	110804809	2	1	22	1	0	0	0	0	0	0	0	1	3689	1219	43	2		2	COL4A1	13	110804809	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	369578	110804809	4365069	7223	12331										
COL4A1	1282	hgsc.bcm.edu	37	chr13	110813709	110813709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttgcgcaggcagctgccGgccgtgcctagacaaggaag	14	12	0	1	rs1133219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:110813709G>A	ENST00000375820.4	-	49	4591	c.4470C>T	c.(4468-4470)gcC>gcT	p.A1490A	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1490	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.			A -> T (in Ref. 17; ABE73157). {ECO:0000305}.	axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCAGCTGCCGGCCGTGCCTA	0.438													G|||	1542	0.307907	0.3563	0.2536	5008	,	,		21124	0.2123		0.3419	False		,,,				2504	0.3446				p.A1490A		Atlas-SNP	.											.	COL4A1	372	.	0			c.C4470T						PASS	.	G		1661,2745	497.6+/-363.9	305,1051,847	70	55	60		4470	-8.6	0.9	13	dbSNP_86	60	2979,5621	451.5+/-362.7	549,1881,1870	no	coding-synonymous	COL4A1	NM_001845.4		854,2932,2717	AA,AG,GG		34.6395,37.6986,35.6758		1490/1670	110813709	4640,8366	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon49			GCTGCCGGCCGTG	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4470C>T	13.37:g.110813709G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			G|0.664;A|0.336	0.336	strong		0.438	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110813709	G	A	110813709	2	1	22	1	0	0	0	0	0	0	0	1	3689	1103	39	1		1	COL4A1	13	110813709	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8900	110813709	4356169	7224	12332										
COL4A1	1282	hgsc.bcm.edu	37	chr13	110850842	110850842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggctgcccagggggcccAggggaaccaggaggacccgg	18	14	0	0	rs995224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:110850842A>G	ENST00000375820.4	-	21	1378	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	COL4A1_ENST00000543140.1_Silent_p.P419P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	419	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGCCCAGGGGAACCAG	0.592													a|||	1034	0.20647	0.2073	0.3732	5008	,	,		16322	0.0546		0.2664	False		,,,				2504	0.182				p.P419P		Atlas-SNP	.											.	COL4A1	372	.	0			c.T1257C						PASS	.			950,3456	326.9+/-299.8	107,736,1360	45	53	50		1257	-6.4	0	13	dbSNP_86	50	2334,6266	360.6+/-332.0	332,1670,2298	no	coding-synonymous	COL4A1	NM_001845.4		439,2406,3658	GG,GA,AA		27.1395,21.5615,25.2499		419/1670	110850842	3284,9722	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon21			GGGCCCAGGGGAA	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1257T>C	13.37:g.110850842A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	108	32	0.296296	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			T|0.000;G|0.240;C|0.000;A|0.760	0.240	strong		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			G	110850842	A	G	110850842	2	3	22	1	0	0	0	0	0	0	0	1	3689	175	7	3		3	COL4A1	13	110850842	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37133	110850842	4319036	7225	12333										
CARKD	55739	hgsc.bcm.edu	37	chr13	111279817	111279817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgttcatgaggtggagAagtggctgccccggctgcat	15	9	1	2	rs3742191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:111279817A>G	ENST00000309957.2	+	5	432	c.418A>G	c.(418-420)Aag>Gag	p.K140E	CARKD_ENST00000397191.4_Missense_Mutation_p.K77E|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.K30E|CARKD_ENST00000458711.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TGAGGTGGAGAAGTGGCTGCC	0.478													A|||	311	0.0621006	0.0204	0.0922	5008	,	,		16742	0.1091		0.0358	False		,,,				2504	0.0757				p.K140E		Atlas-SNP	.											.	CARKD	36	.	0			c.A418G						PASS	.	A	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	121,4285	91.1+/-129.8	2,117,2084	117	98	104		418,364,88,418	-0.2	0	13	dbSNP_107	104	315,8285	112.0+/-172.2	5,305,3990	no	missense,missense,missense,missense	CARKD	NM_001242881.1,NM_001242882.1,NM_001242883.1,NM_018210.3	56,56,56,56	7,422,6074	GG,GA,AA		3.6628,2.7463,3.3523	benign,benign,benign,benign	140/348,122/330,30/238,140/391	111279817	436,12570	2203	4300	6503	SO:0001583	missense	55739	exon5			GTGGAGAAGTGGC	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.418A>G	13.37:g.111279817A>G	ENSP00000311984:p.Lys140Glu	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_018210		Missense_Mutation	SNP	ENST00000309957.2	37	CCDS9513.1	115	0.052655677655677656	11	0.022357723577235773	28	0.07734806629834254	45	0.07867132867132867	31	0.040897097625329816	A	4.322	0.059086	0.08339	0.027463	0.036628	ENSG00000213995	ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T	0.20200	2.15;2.09;2.15	5.13	-0.227	0.13102	Uncharacterised domain, carbohydrate kinase-related (3);	0.276420	0.39274	N	0.001406	T	0.00356	0.0011	N	0.05259	-0.085	0.09310	N	0.999997	B;B;B;B;B	0.19445	0.002;0.001;0.034;0.036;0.001	B;B;B;B;B	0.21360	0.011;0.006;0.034;0.021;0.006	T	0.32851	-0.9891	10	0.06494	T	0.89	-0.249	5.5108	0.16880	0.6381:0.1353:0.2266:0.0	rs3742191;rs3742191	30;122;77;140;140	Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	E	30;122;77;140	ENSP00000413191:K30E;ENSP00000380375:K77E;ENSP00000311984:K140E	ENSP00000311984:K140E	K	+	1	0	CARKD	110077818	0.887000	0.30362	0.000000	0.03702	0.324000	0.28378	1.784000	0.38674	-0.259000	0.09432	0.459000	0.35465	AAG	A|0.955;G|0.045	0.045	strong		0.478	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		G	111279817	A	G	111279817	3	3	22	1	0	0	0	0	1	0	0	0	2654	247	9	2	436	2	CARKD	13	111279817	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	428975	111279817	3890061	7226	12334										
ING1	3621	hgsc.bcm.edu	37	chr13	111368023	111368023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggcgggccgtgctcttCcgccctgcggtgtggttggt	18	12	1	0	rs56682720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:111368023C>G	ENST00000375774.3	+	1	695	c.233C>G	c.(232-234)tCc>tGc	p.S78C	ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	78					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCGTGCTCTTCCGCCCTGCGG	0.672													C|||	189	0.0377396	0.1362	0.0101	5008	,	,		13851	0.0		0.002	False		,,,				2504	0.0				p.S78C		Atlas-SNP	.											.	ING1	106	.	0			c.C233G						PASS	.	C	CYS/SER,,,	544,3856		29,486,1685	69	63	65		233,,,	-8.2	0	13	dbSNP_129	65	6,8592		0,6,4293	yes	missense,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	112,,,	29,492,5978	GG,GC,CC		0.0698,12.3636,4.2314	benign,,,	78/423,,,	111368023	550,12448	2200	4299	6499	SO:0001583	missense	3621	exon1			GCTCTTCCGCCCT		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.233C>G	13.37:g.111368023C>G	ENSP00000364929:p.Ser78Cys	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	42	0.488372	NM_005537	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	51	0.023351648351648352	49	0.09959349593495935	2	0.0055248618784530384	0	0.0	0	0.0	C	14.45	2.539810	0.45176	0.123636	6.98E-4	ENSG00000153487	ENST00000375774	T	0.35421	1.31	4.11	-8.22	0.01037	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.80722	P	0.0	P	0.43352	0.804	B	0.36959	0.237	T	0.15607	-1.0431	8	0.87932	D	0	0.3496	0.192	0.00135	0.2844:0.1541:0.2434:0.318	rs56682720	78	Q9UK53	ING1_HUMAN	C	78	ENSP00000364929:S78C	ENSP00000364929:S78C	S	+	2	0	ING1	110166024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.050000	0.00628	-2.327000	0.00636	-1.083000	0.02208	TCC	C|0.961;G|0.039	0.039	strong		0.672	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		G	111368023	C	G	111368023	3	3	22	1	0	0	0	0	1	0	0	0	7735	855	30	4	383	4	ING1	13	111368023	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88206	111368023	3801855	7227	12335										
C13orf35	400165	hgsc.bcm.edu	37	chr13	113333809	113333809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaagatggacccggcagGtctggagggaggcccccgtg	17	12	1	2	rs114091399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113333809G>A	ENST00000356049.1	+	2	874	c.116G>A	c.(115-117)gGt>gAt	p.G39D		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		39										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GACCCGGCAGGTCTGGAGGGA	0.602													G|||	71	0.0141773	0.0507	0.0058	5008	,	,		14668	0.0		0.0	False		,,,				2504	0.0				p.G39D		Atlas-SNP	.											.	C13orf35	13	.	0			c.G116A						PASS	.	G	ASP/GLY	194,4212	122.5+/-159.9	3,188,2012	38	40	40		116	-0.7	0	13	dbSNP_132	40	9,8591	7.1+/-27.0	0,9,4291	yes	missense	C13orf35	NM_207440.1	94	3,197,6303	AA,AG,GG		0.1047,4.4031,1.5608	benign	39/122	113333809	203,12803	2203	4300	6503	SO:0001583	missense	400165	exon2			CGGCAGGTCTGGA																												ENST00000356049.1:c.116G>A	13.37:g.113333809G>A	ENSP00000348337:p.Gly39Asp	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	108	51	0.472222	NM_207440		Missense_Mutation	SNP	ENST00000356049.1	37	CCDS9526.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	G	2.915	-0.224514	0.06061	0.044031	0.001047	ENSG00000197595	ENST00000356049	.	.	.	1.24	-0.688	0.11317	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	D	0.54601	0.967	P	0.46629	0.522	T	0.07597	-1.0764	8	0.87932	D	0	.	1.9567	0.03378	0.2212:0.0:0.4635:0.3153	.	39	Q6ZP68	CM035_HUMAN	D	39	.	ENSP00000348337:G39D	G	+	2	0	C13orf35	112381810	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.464000	0.02359	-0.287000	0.09064	-0.372000	0.07161	GGT	G|0.985;A|0.015	0.015	strong		0.602	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2			A	113333809	G	A	113333809	3	1	22	1	0	0	0	0	1	0	0	0	1729	1261	44	2	118	2	C13orf35	13	113333809	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1965786	113333809	1836069	7228	12336										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113479820	113479820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaacactgtgctgaaatacAtgtggcagagtgagcccttt	10	8	0	3	rs368865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113479820A>G	ENST00000487903.1	+	11	1037	c.949A>G	c.(949-951)Atg>Gtg	p.M317V	ATP11A_ENST00000375645.3_Missense_Mutation_p.M317V|ATP11A_ENST00000283558.8_Missense_Mutation_p.M317V|ATP11A_ENST00000375630.2_Missense_Mutation_p.M317V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	317			M -> V (in dbSNP:rs368865). {ECO:0000269|PubMed:10470851}.		phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.M317V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCTGAAATACATGTGGCAGAG	0.458													G|||	4218	0.842252	0.9894	0.8473	5008	,	,		23175	0.8661		0.7445	False		,,,				2504	0.7157				p.M317V		Atlas-SNP	.											ATP11A,NS,carcinoma,0,1	ATP11A	225	1	1	Substitution - Missense(1)	stomach(1)	c.A949G						PASS	.	G	VAL/MET,VAL/MET	4163,243	142.3+/-177.5	1970,223,10	124	106	112		949,949	5.1	1	13	dbSNP_80	112	6223,2377	397.0+/-345.6	2237,1749,314	yes	missense,missense	ATP11A	NM_015205.2,NM_032189.3	21,21	4207,1972,324	GG,GA,AA		27.6395,5.5152,20.1445	benign,benign	317/1135,317/1192	113479820	10386,2620	2203	4300	6503	SO:0001583	missense	23250	exon11			AAATACATGTGGC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.949A>G	13.37:g.113479820A>G	ENSP00000420387:p.Met317Val	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	213	212	0.995305	NM_032189	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	1848	0.8461538461538461	486	0.9878048780487805	305	0.8425414364640884	493	0.8618881118881119	564	0.7440633245382586	G	1.065	-0.671815	0.03403	0.944848	0.723605	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);	0.242574	0.41194	N	0.000921	T	0.00012	0.0000	N	0.00096	-2.155	0.53688	P	2.8999999999945736E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42498	-0.9448	9	0.10636	T	0.68	.	10.1209	0.42621	0.1524:0.0:0.8476:0.0	rs368865;rs59209406;rs368865	317;317;317	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	V	317	ENSP00000420387:M317V;ENSP00000364781:M317V;ENSP00000364796:M317V;ENSP00000283558:M317V	ENSP00000283558:M317V	M	+	1	0	ATP11A	112527821	0.994000	0.37717	0.993000	0.49108	0.657000	0.38888	3.156000	0.50708	1.176000	0.42840	-0.282000	0.10007	ATG	A|0.187;G|0.813	0.813	strong		0.458	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		G	113479820	A	G	113479820	3	3	22	1	0	0	0	0	1	0	0	0	1119	217	8	2	991	2	ATP11A	13	113479820	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	146011	113479820	1690058	7229	12337										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113508839	113508839	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctgaccagagacaacctGtccgggtaggcagcgcgtcc	13	14	0	2	rs9549573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113508839G>C	ENST00000487903.1	+	19	2326	c.2238G>C	c.(2236-2238)ctG>ctC	p.L746L	ATP11A_ENST00000375645.3_Silent_p.L746L|ATP11A_ENST00000283558.8_Silent_p.L746L|ATP11A_ENST00000375630.2_Silent_p.L746L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	746					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GAGACAACCTGTCCGGGTAGG	0.652													C|||	3487	0.696286	0.9644	0.7262	5008	,	,		15382	0.6567		0.6044	False		,,,				2504	0.4479				p.L746L		Atlas-SNP	.											.	ATP11A	225	.	0			c.G2238C						PASS	.	C	,	4036,368		1849,338,15	38	39	38		2238,2238	2.8	0.8	13	dbSNP_119	38	5293,3307		1625,2043,632	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	3474,2381,647	CC,CG,GG		38.4535,8.356,28.2605	,	746/1135,746/1192	113508839	9329,3675	2202	4300	6502	SO:0001819	synonymous_variant	23250	exon19			CAACCTGTCCGGG	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2238G>C	13.37:g.113508839G>C		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_032189	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	1540	0.7051282051282052	473	0.9613821138211383	258	0.712707182320442	356	0.6223776223776224	453	0.5976253298153035	C	0.639	-0.814080	0.02798	0.91644	0.615465	ENSG00000068650	ENST00000418678	.	.	.	4.66	2.84	0.33178	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999997	.	.	.	.	.	.	T	0.16897	-1.0387	3	.	.	.	.	10.7428	0.46162	0.0:0.5688:0.3611:0.0701	rs9549573;rs60929322;rs9549573	.	.	.	S	721	.	.	C	+	2	0	ATP11A	112556840	1.000000	0.71417	0.764000	0.31436	0.011000	0.07611	2.234000	0.43035	0.391000	0.25143	-0.223000	0.12442	TGT	G|0.292;C|0.708	0.708	strong		0.652	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		C	113508839	G	C	113508839	2	2	22	1	0	0	0	0	0	0	0	1	1119	1364	48	4		4	ATP11A	13	113508839	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29019	113508839	1661039	7230	12338										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113527967	113527967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttctacgttgtcttttcGcttctctggggaggagtgat	12	8	3	1	rs1320525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113527967G>A	ENST00000487903.1	+	27	3226	c.3138G>A	c.(3136-3138)tcG>tcA	p.S1046S	ATP11A_ENST00000283558.8_Silent_p.S1046S|ATP11A_ENST00000375645.3_Silent_p.S1046S|ATP11A_ENST00000375630.2_Silent_p.S1046S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1046					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTGTCTTTTCGCTTCTCTGGG	0.393											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1877	0.3748	0.298	0.3761	5008	,	,		21339	0.4742		0.3658	False		,,,				2504	0.3845				p.S1046S		Atlas-SNP	.											.	ATP11A	225	.	0			c.G3138A						PASS	.	G	,	1360,3046	451.2+/-349.6	220,920,1063	205	169	181		3138,3138	2.5	1	13	dbSNP_88	181	3364,5236	499.4+/-375.0	674,2016,1610	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	894,2936,2673	AA,AG,GG		39.1163,30.867,36.3217	,	1046/1135,1046/1192	113527967	4724,8282	2203	4300	6503	SO:0001819	synonymous_variant	23250	exon27			CTTTTCGCTTCTC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3138G>A	13.37:g.113527967G>A		Somatic	202	0	0	1451	WXS	Illumina HiSeq	Phase_I	188	99	0.526596	NM_032189	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1																																																																																			G|0.623;A|0.377	0.377	strong		0.393	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113527967	G	A	113527967	2	1	22	1	0	0	0	0	0	0	0	1	1119	1074	38	1		1	ATP11A	13	113527967	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19128	113527967	1641911	7231	12339										
MCF2L	23263	hgsc.bcm.edu	37	chr13	113729414	113729414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaaagtgccaggagctcCggcacctctgtgaccagttc	11	15	1	1	rs74926660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113729414C>T	ENST00000375608.3	+	12	1367	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	MCF2L_ENST00000423482.2_Missense_Mutation_p.R405W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R464W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R437W|MCF2L_ENST00000397030.1_Missense_Mutation_p.R440W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R411W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R407W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R413W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R405W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R411W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	437					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGAGCTCCGGCACCTCTG	0.667													C|||	67	0.0133786	0.0204	0.0231	5008	,	,		14912	0.0208		0.0	False		,,,				2504	0.0031				p.R407W		Atlas-SNP	.											.	MCF2L	182	.	0			c.C1219T						PASS	.	C	TRP/ARG,TRP/ARG	89,4317	75.2+/-113.4	0,89,2114	60	68	65		1219,1213	4.9	0.9	13	dbSNP_131	65	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MCF2L	NM_001112732.2,NM_024979.4	101,101	0,91,6412	TT,TC,CC		0.0233,2.02,0.6997	probably-damaging,probably-damaging	407/1126,405/1124	113729414	91,12915	2203	4300	6503	SO:0001583	missense	23263	exon11			GAGCTCCGGCACC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1309C>T	13.37:g.113729414C>T	ENSP00000364758:p.Arg437Trp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	83	41	0.493976	NM_001112732	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		32|32	0.014652014652014652|0.014652014652014652	14|14	0.028455284552845527|0.028455284552845527	4|4	0.011049723756906077|0.011049723756906077	12|12	0.02097902097902098|0.02097902097902098	2|2	0.002638522427440633|0.002638522427440633	C|C	14.59|14.59	2.580228|2.580228	0.46006|0.46006	0.0202|0.0202	2.33E-4|2.33E-4	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.18016	.|2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.622889	.|0.16873	.|N	.|0.196041	T|T	0.19565|0.19565	0.0470|0.0470	M|M	0.77616|0.77616	2.38|2.38	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.996;0.999;1.0;0.985;0.999	.|P;P;P;D;P;D	.|0.70016	.|0.88;0.88;0.888;0.967;0.828;0.954	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.87932	.|D	.|0	.|.	13.7445|13.7445	0.62868|0.62868	0.0:0.8458:0.1542:0.0|0.0:0.8458:0.1542:0.0	.|.	.|405;407;464;369;405;437	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	L|W	67|437;437;464;440;407;411;411;413;405;405;248	.|ENSP00000364758:R437W;ENSP00000401422:R437W;ENSP00000364754:R464W;ENSP00000380225:R440W;ENSP00000440374:R407W;ENSP00000397285:R411W;ENSP00000364751:R411W;ENSP00000407722:R413W;ENSP00000405639:R405W;ENSP00000364747:R405W	.|ENSP00000364747:R405W	P|R	+|+	2|1	0|2	MCF2L|MCF2L	112777415|112777415	0.609000|0.609000	0.26975|0.26975	0.886000|0.886000	0.34754|0.34754	0.181000|0.181000	0.23173|0.23173	1.666000|1.666000	0.37460|0.37460	2.239000|2.239000	0.73571|0.73571	0.561000|0.561000	0.74099|0.74099	CCG|CGG	C|0.990;T|0.010	0.010	strong		0.667	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			T	113729414	C	T	113729414	3	4	22	1	0	0	0	0	1	0	0	0	9379	643	23	1	1527	1	MCF2L	13	113729414	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201447	113729414	1440464	7232	12340										
MCF2L	23263	hgsc.bcm.edu	37	chr13	113739226	113739226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggaagatttccagatctaTgagaagtactgtcagaacaa	9	6	2	4	rs2281723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113739226T>C	ENST00000375608.3	+	20	2230	c.2172T>C	c.(2170-2172)taT>taC	p.Y724Y	MCF2L_ENST00000423482.2_Silent_p.Y692Y|MCF2L_ENST00000375604.2_Silent_p.Y751Y|MCF2L_ENST00000442652.2_Silent_p.Y724Y|MCF2L_ENST00000397030.1_Silent_p.Y727Y|MCF2L_ENST00000375601.3_Silent_p.Y698Y|MCF2L_ENST00000535094.2_Silent_p.Y694Y|MCF2L_ENST00000434480.2_Silent_p.Y700Y|MCF2L_ENST00000375597.4_Silent_p.Y692Y|MCF2L_ENST00000421756.1_Silent_p.Y698Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	724	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGATCTATGAGAAGTACT	0.582													c|||	562	0.11222	0.0764	0.0865	5008	,	,		17663	0.2649		0.0656	False		,,,				2504	0.0695				p.Y694Y		Atlas-SNP	.											.	MCF2L	182	.	0			c.T2082C						PASS	.	C	,	306,4100	797.5+/-415.4	10,286,1907	125	119	121		2082,2076	-3.1	1	13	dbSNP_100	121	607,7993	791.9+/-407.5	14,579,3707	yes	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	24,865,5614	CC,CT,TT		7.0581,6.9451,7.0198	,	694/1126,692/1124	113739226	913,12093	2203	4300	6503	SO:0001819	synonymous_variant	23263	exon19			GATCTATGAGAAG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2172T>C	13.37:g.113739226T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	84	51	0.607143	NM_001112732	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37		257	0.11767399267399267	43	0.08739837398373984	32	0.08839779005524862	135	0.23601398601398602	47	0.06200527704485488	C	9.298	1.052343	0.19827	0.069451	0.070581	ENSG00000126217	ENST00000397017	.	.	.	4.64	-3.09	0.05331	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2654	0.73657	0.0:0.1181:0.0:0.8819	rs2281723;rs17692545;rs2281723	.	.	.	R	355	.	.	X	+	1	0	MCF2L	112787227	0.995000	0.38212	0.975000	0.42487	0.824000	0.46624	0.321000	0.19558	-0.859000	0.04105	-0.711000	0.03637	TGA	T|0.904;C|0.096	0.096	strong		0.582	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			C	113739226	T	C	113739226	2	2	22	1	0	0	0	0	0	0	0	1	9379	1471	51	2		2	MCF2L	13	113739226	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9812	113739226	1430652	7233	12341										
MCF2L	23263	hgsc.bcm.edu	37	chr13	113741590	113741590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctgctgatgcagggctcGttcagcgtctggaccgacca	13	12	2	1	rs9604022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113741590G>A	ENST00000375608.3	+	23	2563	c.2505G>A	c.(2503-2505)tcG>tcA	p.S835S	MCF2L_ENST00000375604.2_Silent_p.S862S|MCF2L_ENST00000375601.3_Silent_p.S809S|MCF2L_ENST00000535094.2_Silent_p.S805S|MCF2L_ENST00000397030.1_Silent_p.S838S|MCF2L_ENST00000421756.1_Silent_p.S809S|MCF2L_ENST00000423482.2_Silent_p.S803S|MCF2L_ENST00000434480.2_Silent_p.S811S|MCF2L_ENST00000375597.4_Silent_p.S803S|MCF2L_ENST00000442652.2_Silent_p.S835S			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	835	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGCAGGGCTCGTTCAGCGTCT	0.637													g|||	812	0.162141	0.2466	0.1311	5008	,	,		19303	0.005		0.1571	False		,,,				2504	0.2372				p.S805S		Atlas-SNP	.											.	MCF2L	182	.	0			c.G2415A						PASS	.	G	,	950,3456	357.4+/-313.9	119,712,1372	68	59	62		2415,2409	-2.3	1	13	dbSNP_119	62	1427,7171	273.7+/-290.8	128,1171,3000	no	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	247,1883,4372	AA,AG,GG		16.5969,21.5615,18.279	,	805/1126,803/1124	113741590	2377,10627	2203	4299	6502	SO:0001819	synonymous_variant	23263	exon22			GGGCTCGTTCAGC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2505G>A	13.37:g.113741590G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	120	59	0.491667	NM_001112732	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37		284|284	0.13003663003663005|0.13003663003663005	123|123	0.25|0.25	53|53	0.1464088397790055|0.1464088397790055	5|5	0.008741258741258742|0.008741258741258742	103|103	0.1358839050131926|0.1358839050131926	G|G	2.941|2.941	-0.218814|-0.218814	0.06101|0.06101	0.215615|0.215615	0.165969|0.165969	ENSG00000126217|ENSG00000126217	ENST00000413354|ENST00000397017	.|.	.|.	.|.	4.34|4.34	-2.28|-2.28	0.06826|0.06826	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34502|0.34502	-0.9826|-0.9826	3|3	.|.	.|.	.|.	.|.	1.8524|1.8524	0.03172|0.03172	0.3428:0.2912:0.2297:0.1363|0.3428:0.2912:0.2297:0.1363	rs9604022;rs9604022|rs9604022;rs9604022	.|.	.|.	.|.	H|I	35|466	.|.	.|.	R|V	+|+	2|1	0|0	MCF2L|MCF2L	112789591|112789591	0.006000|0.006000	0.16342|0.16342	0.956000|0.956000	0.39512|0.39512	0.324000|0.324000	0.28378|0.28378	-1.073000|-1.073000	0.03430|0.03430	-0.924000|-0.924000	0.03780|0.03780	-2.416000|-2.416000	0.00220|0.00220	CGT|GTT	G|0.832;A|0.168	0.168	strong		0.637	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			A	113741590	G	A	113741590	2	1	22	1	0	0	0	0	0	0	0	1	9379	1132	40	1		1	MCF2L	13	113741590	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2364	113741590	1428288	7234	12342										
F10	2159	hgsc.bcm.edu	37	chr13	113798236	113798236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggccaccagcagcagcGgggaggcccctgacagcatc	13	17	0	1	rs3211783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113798236G>A	ENST00000375559.3	+	6	612	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	F10_ENST00000409306.1_Missense_Mutation_p.G192R|F10_ENST00000375551.3_Missense_Mutation_p.G192R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	192	O-glycosylated at one site.		G -> R (in dbSNP:rs3211783). {ECO:0000269|Ref.3}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CAGCAGCAGCGGGGAGGCCCC	0.632													G|||	148	0.0295527	0.1089	0.0058	5008	,	,		16770	0.0		0.0	False		,,,				2504	0.0				p.G192R		Atlas-SNP	.											.	F10	53	.	0			c.G574A						PASS	.	G	ARG/GLY	378,4028	188.8+/-215.1	17,344,1842	71	61	64		574	0.6	0	13	dbSNP_105	64	4,8596	3.7+/-12.6	0,4,4296	yes	missense	F10	NM_000504.3	125	17,348,6138	AA,AG,GG		0.0465,8.5792,2.9371	benign	192/489	113798236	382,12624	2203	4300	6503	SO:0001583	missense	2159	exon6			AGCAGCGGGGAGG		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.574G>A	13.37:g.113798236G>A	ENSP00000364709:p.Gly192Arg	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_000504	Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	CCDS9530.1	46	0.021062271062271064	45	0.09146341463414634	1	0.0027624309392265192	0	0.0	0	0.0	G	6.631	0.484887	0.12641	0.085792	4.65E-4	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95588	-3.73;-3.75;-2.9	4.72	0.594	0.17485	.	2.606730	0.01382	N	0.012940	T	0.31482	0.0798	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49961	0.93;0.93;0.682	B;B;B	0.34931	0.136;0.192;0.053	T	0.74542	-0.3631	10	0.18276	T	0.48	.	4.0037	0.09592	0.4003:0.1745:0.4252:0.0	rs3211783	192;192;192	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	R	192	ENSP00000387092:G192R;ENSP00000364701:G192R;ENSP00000364709:G192R	ENSP00000364701:G192R	G	+	1	0	F10	112846237	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.422000	0.07043	0.081000	0.16988	-0.333000	0.08304	GGG	G|0.973;A|0.027	0.027	strong		0.632	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			A	113798236	G	A	113798236	3	1	22	1	0	0	0	0	1	0	0	0	5336	1116	39	1	596	1	F10	13	113798236	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56646	113798236	1371642	7235	12343										
LAMP1	3916	hgsc.bcm.edu	37	chr13	113973832	113973832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaccacagcgccccctgCgccacccagcccctcgccct	6	26	0	0	rs9577229	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:113973832C>T	ENST00000332556.4	+	5	805	c.611C>T	c.(610-612)gCg>gTg	p.A204V	LAMP1_ENST00000397181.3_Missense_Mutation_p.A151V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	204	Hinge.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.A204V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGCCCCCTGCGCCACCCAGC	0.637													C|||	399	0.0796725	0.1641	0.0533	5008	,	,		17650	0.1399		0.001	False		,,,				2504	0.0031				p.A204V		Atlas-SNP	.											LAMP1,NS,carcinoma,0,1	LAMP1	41	1	1	Substitution - Missense(1)	stomach(1)	c.C611T						PASS	.	C	VAL/ALA	623,3433		48,527,1453	45	57	53		611	0.2	0	13	dbSNP_119	53	7,8377		0,7,4185	yes	missense	LAMP1	NM_005561.3	64	48,534,5638	TT,TC,CC		0.0835,15.36,5.0643	benign	204/418	113973832	630,11810	2028	4192	6220	SO:0001583	missense	3916	exon5			CCCCTGCGCCACC	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.611C>T	13.37:g.113973832C>T	ENSP00000333298:p.Ala204Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_005561	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	CCDS41909.1	181	0.08287545787545787	87	0.17682926829268292	17	0.04696132596685083	77	0.1346153846153846	0	0.0	C	11.66	1.705958	0.30232	0.1536	8.35E-4	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35048	1.33;1.33	5.34	0.159	0.14968	.	1.126930	0.06515	N	0.738742	T	0.00039	0.0001	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.16396	0.007;0.017	B;B	0.13407	0.005;0.009	T	0.24584	-1.0156	9	0.17832	T	0.49	-0.0066	2.9161	0.05752	0.1393:0.5386:0.105:0.2171	rs9577229	151;204	B4DWL3;P11279	.;LAMP1_HUMAN	V	204;151	ENSP00000333298:A204V;ENSP00000415354:A151V	ENSP00000333298:A204V	A	+	2	0	LAMP1	113021833	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.108000	0.15396	-0.282000	0.09128	-1.080000	0.02220	GCG	C|0.947;T|0.053	0.053	strong		0.637	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			T	113973832	C	T	113973832	3	4	22	1	0	0	0	0	1	0	0	0	8617	768	27	1	629	1	LAMP1	13	113973832	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	175596	113973832	1196046	7236	12344										
TMCO3	55002	hgsc.bcm.edu	37	chr13	114152755	114152755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagtttatccatgcttgaCgagattcttgaagatgtaag	9	6	1	4	rs2260218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114152755C>T	ENST00000434316.2	+	3	902	c.543C>T	c.(541-543)gaC>gaT	p.D181D	TMCO3_ENST00000375391.1_Silent_p.D181D|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	181						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCATGCTTGACGAGATTCTTG	0.398													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		19525	0.1488		0.1292	False		,,,				2504	0.1053				p.D181D		Atlas-SNP	.											.	TMCO3	77	.	0			c.C543T						PASS	.	C		1511,2895	481.5+/-359.1	256,999,948	133	130	131		543	-3.9	0	13	dbSNP_100	131	1089,7511	226.6+/-262.3	62,965,3273	no	coding-synonymous	TMCO3	NM_017905.4		318,1964,4221	TT,TC,CC		12.6628,34.2941,19.9908		181/678	114152755	2600,10406	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon3			GCTTGACGAGATT	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.543C>T	13.37:g.114152755C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	30	14	0.466667	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.795;T|0.205	0.205	strong		0.398	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		T	114152755	C	T	114152755	2	4	22	1	0	0	0	0	0	0	0	1	15994	535	19	1		1	TMCO3	13	114152755	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178923	114152755	1017123	7237	12345										
TMCO3	55002	hgsc.bcm.edu	37	chr13	114154419	114154419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccagtatattttgaccaaGcccagagattcaaccatccc	5	13	1	2	rs2260159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114154419G>A	ENST00000434316.2	+	4	1130	c.771G>A	c.(769-771)aaG>aaA	p.K257K	TMCO3_ENST00000375391.1_Silent_p.K257K|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	257						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTTGACCAAGCCCAGAGATT	0.463													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		16314	0.1488		0.1292	False		,,,				2504	0.1053				p.K257K		Atlas-SNP	.											.	TMCO3	77	.	0			c.G771A						PASS	.	G		1511,2895	481.5+/-359.1	256,999,948	119	120	120		771	1.5	0.9	13	dbSNP_100	120	1086,7514	226.2+/-262.0	62,962,3276	yes	coding-synonymous	TMCO3	NM_017905.4		318,1961,4224	AA,AG,GG		12.6279,34.2941,19.9677		257/678	114154419	2597,10409	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon4			GACCAAGCCCAGA	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.771G>A	13.37:g.114154419G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	155	76	0.490323	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			G|0.796;A|0.204	0.204	strong		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114154419	G	A	114154419	2	1	22	1	0	0	0	0	0	0	0	1	15994	962	34	2		2	TMCO3	13	114154419	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1664	114154419	1015459	7238	12346										
TMCO3	55002	hgsc.bcm.edu	37	chr13	114156093	114156093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaccataggaatgctgtcCttgccttgtggctggctatg	12	9	0	0	rs2260080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114156093C>T	ENST00000434316.2	+	5	1202	c.843C>T	c.(841-843)tcC>tcT	p.S281S	TMCO3_ENST00000375391.1_Silent_p.S281S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	281						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.S281S(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAATGCTGTCCTTGCCTTGTG	0.408													.|||	1207	0.241014	0.4107	0.147	5008	,	,		22189	0.2708		0.1581	False		,,,				2504	0.1329				p.S281S		Atlas-SNP	.											TMCO3,NS,carcinoma,0,1	TMCO3	77	1	1	Substitution - coding silent(1)	stomach(1)	c.C843T						PASS	.	C		1535,2871	486.2+/-360.5	264,1007,932	167	164	165		843	-3.1	0.1	13	dbSNP_100	165	1275,7325	252.3+/-278.5	90,1095,3115	no	coding-synonymous	TMCO3	NM_017905.4		354,2102,4047	TT,TC,CC		14.8256,34.8389,21.6054		281/678	114156093	2810,10196	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon5			GCTGTCCTTGCCT	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.843C>T	13.37:g.114156093C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.772;T|0.228	0.228	strong		0.408	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		T	114156093	C	T	114156093	2	4	22	1	0	0	0	0	0	0	0	1	15994	668	24	2		2	TMCO3	13	114156093	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1674	114156093	1013785	7239	12347										
TMCO3	55002	hgsc.bcm.edu	37	chr13	114175004	114175004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctcgggctcttcatggcCgtcatgccgactctcataca	9	15	4	0	rs2260334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114175004C>T	ENST00000434316.2	+	8	1658	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	433						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCTTCATGGCCGTCATGCCGA	0.517													C|||	1223	0.244209	0.4213	0.1499	5008	,	,		16761	0.2728		0.1571	False		,,,				2504	0.1319				p.A433A		Atlas-SNP	.											.	TMCO3	77	.	0			c.C1299T						PASS	.	C		1559,2847	490.6+/-361.9	275,1009,919	89	82	84		1299	-8.5	0	13	dbSNP_100	84	1266,7334	251.2+/-277.8	88,1090,3122	no	coding-synonymous	TMCO3	NM_017905.4		363,2099,4041	TT,TC,CC		14.7209,35.3836,21.7207		433/678	114175004	2825,10181	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon8			CATGGCCGTCATG	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1299C>T	13.37:g.114175004C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	141	67	0.475177	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.768;T|0.232	0.232	strong		0.517	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		T	114175004	C	T	114175004	2	4	22	1	0	0	0	0	0	0	0	1	15994	639	23	1		1	TMCO3	13	114175004	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18911	114175004	994874	7240	12348										
TMCO3	55002	hgsc.bcm.edu	37	chr13	114175032	114175032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactctcatacaggcgggcGccagtgcatcttctaggtaa	11	12	3	0	rs2260335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114175032G>A	ENST00000434316.2	+	8	1686	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	443			A -> T (in dbSNP:rs2260335).			integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACAGGCGGGCGCCAGTGCATC	0.478													G|||	1020	0.203674	0.41	0.1369	5008	,	,		16153	0.1498		0.1282	False		,,,				2504	0.1053				p.A443T		Atlas-SNP	.											.	TMCO3	77	.	0			c.G1327A						PASS	.	G	THR/ALA	1517,2889	483.0+/-359.6	258,1001,944	79	72	74		1327	4.1	0	13	dbSNP_100	74	1079,7521	225.2+/-261.4	60,959,3281	yes	missense	TMCO3	NM_017905.4	58	318,1960,4225	AA,AG,GG		12.5465,34.4303,19.96	benign	443/678	114175032	2596,10410	2203	4300	6503	SO:0001583	missense	55002	exon8			GCGGGCGCCAGTG	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1327G>A	13.37:g.114175032G>A	ENSP00000389399:p.Ala443Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	106	53	0.5	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	430	0.19688644688644688	195	0.39634146341463417	51	0.1408839779005525	92	0.16083916083916083	92	0.12137203166226913	G	3.243	-0.154835	0.06544	0.344303	0.125465	ENSG00000150403	ENST00000434316	T	0.15834	2.39	4.94	4.09	0.47781	Cation/H+ exchanger (1);	0.309976	0.34110	N	0.004248	T	0.00012	0.0000	L	0.28274	0.84	0.18873	P	0.9999847456	B;B	0.24092	0.015;0.097	B;B	0.21151	0.021;0.033	T	0.48969	-0.8987	9	0.19590	T	0.45	-19.3477	13.1084	0.59259	0.0789:0.0:0.9211:0.0	rs2260335;rs57107498	443;443	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	T	443	ENSP00000389399:A443T	ENSP00000389399:A443T	A	+	1	0	TMCO3	113223033	0.972000	0.33761	0.012000	0.15200	0.017000	0.09413	2.740000	0.47418	1.083000	0.41159	0.495000	0.49567	GCC	G|0.805;A|0.195	0.195	strong		0.478	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114175032	G	A	114175032	3	1	22	1	0	0	0	0	1	0	0	0	15994	1087	38	1	1353	1	TMCO3	13	114175032	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28	114175032	994846	7241	12349										
TFDP1	7027	hgsc.bcm.edu	37	chr13	114265331	114265331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggtctaattgaagccaaCggagaactcaaggtcttcat	10	10	4	2	rs4150731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114265331C>T	ENST00000375370.5	+	3	245	c.33C>T	c.(31-33)aaC>aaT	p.N11N	TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	11					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGAAGCCAACGGAGAACTCA	0.453										TSP Lung(29;0.18)			C|||	121	0.0241613	0.0552	0.0014	5008	,	,		20846	0.0456		0.0	False		,,,				2504	0.001				p.N11N		Atlas-SNP	.											.	TFDP1	70	.	0			c.C33T						PASS	.	C		261,4145	148.0+/-182.4	6,249,1948	190	181	184		33	-1.2	1	13	dbSNP_110	184	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TFDP1	NM_007111.4		6,251,6246	TT,TC,CC		0.0233,5.9237,2.0221		11/411	114265331	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	7027	exon3			AGCCAACGGAGAA	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.33C>T	13.37:g.114265331C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	189	94	0.497355	NM_007111	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	CCDS9538.1																																																																																			C|0.975;T|0.025	0.025	strong		0.453	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		T	114265331	C	T	114265331	2	4	22	1	0	0	0	0	0	0	0	1	15794	535	19	1		1	TFDP1	13	114265331	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90299	114265331	904547	7242	12350										
FAM70B	348013	hgsc.bcm.edu	37	chr13	114507956	114507956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcaggcttccgcctgacGcccgagcccgtcccgacctg	11	19	0	1	rs56032548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114507956G>A	ENST00000375353.3	+	8	795	c.768G>A	c.(766-768)acG>acA	p.T256T	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	256						integral component of membrane (GO:0016021)											TCCGCCTGACGCCCGAGCCCG	0.672													G|||	355	0.0708866	0.2534	0.0288	5008	,	,		14726	0.0		0.0	False		,,,				2504	0.0				p.T256T		Atlas-SNP	.											.	.	.	.	0			c.G768A						PASS	.	G		962,3442	354.4+/-312.6	113,736,1353	62	60	60		768	-5.7	0	13	dbSNP_129	60	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	FAM70B	NM_182614.2		113,753,5636	AA,AG,GG		0.1977,21.8438,7.5285		256/327	114507956	979,12025	2202	4300	6502	SO:0001819	synonymous_variant	348013	exon8			CCTGACGCCCGAG	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.768G>A	13.37:g.114507956G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_182614		Silent	SNP	ENST00000375353.3	37	CCDS45071.1																																																																																			G|0.922;A|0.078	0.078	strong		0.672	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		A	114507956	G	A	114507956	2	1	22	1	0	0	0	0	0	0	0	1	5606	1074	38	1		1	FAM70B	13	114507956	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	242625	114507956	661922	7243	12351										
GAS6	2621	hgsc.bcm.edu	37	chr13	114526504	114526504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaggttgattcagtcccGacgtccagaggggtccgcac	12	14	1	2	rs74118435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114526504G>A	ENST00000327773.6	-	13	1643	c.1497C>T	c.(1495-1497)gtC>gtT	p.V499V	GAS6_ENST00000355761.4_Silent_p.V445V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Silent_p.V200V|GAS6_ENST00000357389.3_Silent_p.V542V|GAS6_ENST00000450766.1_Silent_p.V226V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	542	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATTCAGTCCCGACGTCCAGAG	0.627													G|||	111	0.0221645	0.0809	0.0058	5008	,	,		19406	0.0		0.0	False		,,,				2504	0.0				p.V499V		Atlas-SNP	.											.	GAS6	75	.	0			c.C1497T						PASS	.	G	,,	282,4122	157.4+/-190.3	8,266,1928	96	79	85		1497,678,600	-9.1	0	13	dbSNP_130	85	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	,,	8,269,6225	AA,AG,GG		0.0349,6.4033,2.1916	,,	499/679,226/406,200/380	114526504	285,12719	2202	4300	6502	SO:0001819	synonymous_variant	2621	exon13			AGTCCCGACGTCC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1497C>T	13.37:g.114526504G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	95	54	0.568421	NM_000820	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	CCDS45072.1																																																																																			G|0.971;A|0.029	0.029	strong		0.627	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		A	114526504	G	A	114526504	2	1	22	1	0	0	0	0	0	0	0	1	6249	1045	37	1		1	GAS6	13	114526504	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18548	114526504	643374	7244	12352										
RASA3	22821	hgsc.bcm.edu	37	chr13	114773022	114773022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttacccttctttaagcaCgatgggctgctcaacactct	6	14	3	0	rs74116414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:114773022C>T	ENST00000334062.7	-	18	1850	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	RASA3_ENST00000389544.4_Missense_Mutation_p.V545M	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	577	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCTTTAAGCACGATGGGCTGC	0.562													N|||	129	0.0257588	0.0923	0.0101	5008	,	,		20382	0.0		0.0	False		,,,				2504	0.0				p.V577M		Atlas-SNP	.											.	RASA3	83	.	0			c.G1729A						PASS	.	C	MET/VAL	302,4100	162.5+/-194.5	14,274,1913	141	102	115		1729	0.1	1	13	dbSNP_130	115	5,8593	3.7+/-12.6	0,5,4294	yes	missense	RASA3	NM_007368.2	21	14,279,6207	TT,TC,CC		0.0582,6.8605,2.3615	benign	577/835	114773022	307,12693	2201	4299	6500	SO:0001583	missense	22821	exon18			TAAGCACGATGGG		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1729G>A	13.37:g.114773022C>T	ENSP00000335029:p.Val577Met	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	48	20	0.416667	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	37	0.01694139194139194	35	0.07113821138211382	2	0.0055248618784530384	0	0.0	0	0.0	C	13.21	2.168248	0.38315	0.068605	5.82E-4	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.94650	-3.48;-3.48	4.43	0.0618	0.14342	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);Ras GTPase-activating protein (1);	0.117907	0.56097	D	0.000028	T	0.59293	0.2183	M	0.76170	2.325	0.80722	D	1	B	0.14012	0.009	B	0.35688	0.208	T	0.72232	-0.4353	9	.	.	.	.	3.085	0.06275	0.2028:0.1354:0.5245:0.1373	.	577	Q14644	RASA3_HUMAN	M	577;545	ENSP00000335029:V577M;ENSP00000374195:V545M	.	V	-	1	0	RASA3	113791124	1.000000	0.71417	0.999000	0.59377	0.169000	0.22640	0.524000	0.22940	0.107000	0.17824	-0.928000	0.02712	GTG	C|0.976;T|0.024	0.024	strong		0.562	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		T	114773022	C	T	114773022	3	4	22	1	0	0	0	0	1	0	0	0	13062	536	19	1	803	1	RASA3	13	114773022	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	246518	114773022	396856	7245	12353										
CDC16	8881	hgsc.bcm.edu	37	chr13	115002305	115002305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatctattggttggctcaGtgtctttacctgacagcaca	9	10	3	1	rs8002514	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:115002305G>A	ENST00000356221.3	+	3	243	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252457.5_Silent_p.Q44Q|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000360383.3_Silent_p.Q45Q			Q13042	CDC16_HUMAN	cell division cycle 16	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GGTTGGCTCAGTGTCTTTACC	0.413													A|||	1711	0.341653	0.5825	0.2767	5008	,	,		14511	0.1587		0.2584	False		,,,				2504	0.3364				p.Q45Q		Atlas-SNP	.											.	CDC16	50	.	0			c.G135A						PASS	.	A	,	2277,2129	579.4+/-384.9	577,1123,503	118	116	117		135,135	2.4	1	13	dbSNP_116	117	1991,6609	722.8+/-406.4	230,1531,2539	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	807,2654,3042	AA,AG,GG		23.1512,48.3205,32.8156	,	45/621,45/621	115002305	4268,8738	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon3			GGCTCAGTGTCTT	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.135G>A	13.37:g.115002305G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	132	63	0.477273	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			G|0.678;A|0.322	0.322	strong		0.413	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		A	115002305	G	A	115002305	2	1	22	1	0	0	0	0	0	0	0	1	3058	1020	36	2		2	CDC16	13	115002305	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	229283	115002305	167573	7246	12354										
CDC16	8881	hgsc.bcm.edu	37	chr13	115004914	115004914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaaaaatacttgaaggaCgaaagtggcttcaaagatcc	9	6	1	3	rs2296971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:115004914C>T	ENST00000356221.3	+	5	438	c.330C>T	c.(328-330)gaC>gaT	p.D110D	CDC16_ENST00000375308.1_Silent_p.D16D|CDC16_ENST00000252457.5_Silent_p.D109D|CDC16_ENST00000252458.6_Silent_p.D16D|CDC16_ENST00000375312.3_Silent_p.D16D|CDC16_ENST00000375310.1_Silent_p.D16D|CDC16_ENST00000360383.3_Silent_p.D110D			Q13042	CDC16_HUMAN	cell division cycle 16	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACTTGAAGGACGAAAGTGGCT	0.453													T|||	2225	0.444289	0.8464	0.3516	5008	,	,		17472	0.2024		0.3191	False		,,,				2504	0.3446				p.D110D		Atlas-SNP	.											.	CDC16	50	.	0			c.C330T						PASS	.	T	,	3299,1107	398.8+/-331.0	1247,805,151	50	56	54		330,330	3.3	1	13	dbSNP_100	54	2451,6149	697.3+/-404.9	369,1713,2218	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	1616,2518,2369	TT,TC,CC		28.5,25.1248,44.2104	,	110/621,110/621	115004914	5750,7256	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon5			GAAGGACGAAAGT	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.330C>T	13.37:g.115004914C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	91	34	0.373626	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			C|0.562;T|0.438	0.438	strong		0.453	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115004914	C	T	115004914	2	4	22	1	0	0	0	0	0	0	0	1	3058	535	19	1		1	CDC16	13	115004914	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2609	115004914	164964	7247	12355										
CDC16	8881	hgsc.bcm.edu	37	chr13	115004935	115004935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagtggcttcaaagatccTtccagcgactgggaaatgtc	11	9	1	1	rs2296970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:115004935T>C	ENST00000356221.3	+	5	459	c.351T>C	c.(349-351)ccT>ccC	p.P117P	CDC16_ENST00000375308.1_Silent_p.P23P|CDC16_ENST00000252457.5_Silent_p.P116P|CDC16_ENST00000375312.3_Silent_p.P23P|CDC16_ENST00000252458.6_Silent_p.P23P|CDC16_ENST00000375310.1_Silent_p.P23P|CDC16_ENST00000360383.3_Silent_p.P117P			Q13042	CDC16_HUMAN	cell division cycle 16	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCAAAGATCCTTCCAGCGACT	0.453													C|||	2212	0.441693	0.8366	0.3516	5008	,	,		17862	0.2024		0.3191	False		,,,				2504	0.3446				p.P117P		Atlas-SNP	.											.	CDC16	50	.	0			c.T351C						PASS	.	C	,	3269,1137	400.4+/-331.6	1229,811,163	43	48	46		351,351	2.6	1	13	dbSNP_100	46	2445,6155	694.4+/-404.7	368,1709,2223	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	1597,2520,2386	CC,CT,TT		28.4302,25.8057,43.9336	,	117/621,117/621	115004935	5714,7292	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon5			AGATCCTTCCAGC	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.351T>C	13.37:g.115004935T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	91	35	0.384615	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			T|0.563;C|0.437	0.437	strong		0.453	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		C	115004935	T	C	115004935	2	2	22	1	0	0	0	0	0	0	0	1	3058	1596	56	3		3	CDC16	13	115004935	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	115004935	164943	7248	12356										
UPF3A	65110	hgsc.bcm.edu	37	chr13	115047305	115047305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacctcgcgaggagaagaGgacggccctgagcaaggtgg	16	10	0	3	rs3752105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr13:115047305G>A	ENST00000375299.3	+	1	247	c.191G>A	c.(190-192)aGg>aAg	p.R64K	UPF3A_ENST00000351487.5_Missense_Mutation_p.R64K	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	64			R -> K (in dbSNP:rs3752105).		gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GAGGAGAAGAGGACGGCCCTG	0.721													g|||	1524	0.304313	0.5416	0.17	5008	,	,		6771	0.1032		0.2584	False		,,,				2504	0.3333				p.R64K		Atlas-SNP	.											UPF3A,NS,carcinoma,0,1	UPF3A	47	1	0			c.G191A						PASS	.		LYS/ARG,LYS/ARG	1665,2487		352,961,763	6	7	6		191,191	0.4	0.3	13	dbSNP_107	6	1559,6677		178,1203,2737	yes	missense,missense	UPF3A	NM_023011.3,NM_080687.2	26,26	530,2164,3500	AA,AG,GG		18.9291,40.1012,26.0252	benign,benign	64/477,64/444	115047305	3224,9164	2076	4118	6194	SO:0001583	missense	65110	exon1			AGAAGAGGACGGC	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.191G>A	13.37:g.115047305G>A	ENSP00000364448:p.Arg64Lys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_080687	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	596	0.27289377289377287	268	0.5447154471544715	69	0.19060773480662985	67	0.11713286713286714	192	0.2532981530343008	g	0.059	-1.228239	0.01518	0.401012	0.189291	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.61980	0.06;0.06	3.1	0.383	0.16239	Regulator of nonsense-mediated decay, UPF3 (1);	0.193157	0.44902	N	0.000402	T	0.00012	0.0000	N	0.00841	-1.15	0.80722	P	0.0	B;B;B	0.18461	0.001;0.004;0.028	B;B;B	0.18263	0.006;0.006;0.021	T	0.45833	-0.9234	8	.	.	.	-6.5893	7.2758	0.26283	0.425:0.0:0.575:0.0	rs3752105	64;64;64	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	K	64	ENSP00000364448:R64K;ENSP00000329592:R64K	.	R	+	2	0	UPF3A	114065407	0.085000	0.21516	0.350000	0.25708	0.233000	0.25261	0.005000	0.13129	0.041000	0.15688	0.479000	0.44913	AGG	G|0.728;A|0.272	0.272	strong		0.721	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			A	115047305	G	A	115047305	3	1	22	1	0	0	0	0	1	0	0	0	17002	1000	35	2	193	2	UPF3A	13	115047305	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42370	115047305	122573	7249	12357										
OR11H12	440153	hgsc.bcm.edu	37	chr14	19377881	19377881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctacagttcccaagatGttggtcaacttcctttcaga	6	11	4	2	rs138502172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:19377881G>A	ENST00000550708.1	+	1	360	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCCAAGATGTTGGTCAACT	0.403																																					p.M96I		Atlas-SNP	.											OR11H12,NS,carcinoma,0,1	OR11H12	58	1	0			c.G288A						scavenged	.						5	5	5					14																	19377881		1160	2711	3871	SO:0001583	missense	440153	exon1			CAAGATGTTGGTC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.288G>A	14.37:g.19377881G>A	ENSP00000449002:p.Met96Ile	Somatic	566	3	0.00530035		WXS	Illumina HiSeq	Phase_I	599	62	0.103506	NM_001013354		Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.732631	0.30684	.	.	ENSG00000257115	ENST00000550708	T	0.05513	3.43	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.289165	0.23960	N	0.042866	T	0.11239	0.0274	M	0.78223	2.4	0.22675	N	0.998867	P	0.51537	0.946	P	0.47528	0.549	T	0.14282	-1.0478	9	0.59425	D	0.04	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	96	B2RN74	O11HC_HUMAN	I	96	ENSP00000449002:M96I	ENSP00000449002:M96I	M	+	3	0	CR383656.1	18447881	0.814000	0.29104	0.980000	0.43619	0.268000	0.26511	0.362000	0.20284	0.619000	0.30197	0.064000	0.15345	ATG	G|0.973;A|0.027	0.027	strong		0.403	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19377881	G	A	19377881	3	1	22	1	0	0	0	0	1	0	0	0	10927	1377	48	2	290	2	OR11H12	14	19377881	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10		19377881	87971659	7250	12358										
POTEG	404785	hgsc.bcm.edu	37	chr14	19553494	19553494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagaagcaagatgggcaaGtggtgccgccactgcttccc	12	13	1	2	rs200256710	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:19553494G>C	ENST00000409832.3	+	1	130	c.78G>C	c.(76-78)aaG>aaC	p.K26N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	26										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGGGCAAGTGGTGCCGCC	0.582																																					p.K26N		Atlas-SNP	.											POTEG,NS,carcinoma,0,1	POTEG	118	1	0			c.G78C						scavenged	.						4	7	6					14																	19553494		1219	2779	3998	SO:0001583	missense	404785	exon1			GGGCAAGTGGTGC		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.78G>C	14.37:g.19553494G>C	ENSP00000386971:p.Lys26Asn	Somatic	1363	1	0.000733676		WXS	Illumina HiSeq	Phase_I	2158	285	0.132067	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	9.693	1.152413	0.21371	.	.	ENSG00000222036	ENST00000409832	T	0.46819	0.86	.	.	.	.	.	.	.	.	T	0.52025	0.1709	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.37934	-0.9684	7	0.87932	D	0	.	.	.	.	.	26	Q6S5H5	POTEG_HUMAN	N	26	ENSP00000386971:K26N	ENSP00000386971:K26N	K	+	3	2	POTEG	18623494	0.003000	0.15002	0.038000	0.18304	0.017000	0.09413	-0.275000	0.08525	0.459000	0.27016	0.152000	0.16155	AAG	G|0.996;A|0.004	.	alt		0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		C	19553494	G	C	19553494	3	2	22	1	0	0	0	0	1	0	0	0	12266	1020	36	4	80	4	POTEG	14	19553494	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	175613	19553494	87796046	7251	12359										
POTEG	404785	hgsc.bcm.edu	37	chr14	19553677	19553677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacttctggagaccacgaCgactctgctatgaagacact	10	12	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:19553677C>T	ENST00000409832.3	+	1	313	c.261C>T	c.(259-261)gaC>gaT	p.D87D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	87										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGACCACGACGACTCTGCTA	0.612																																					p.D87D		Atlas-SNP	.											POTEG,NS,carcinoma,0,2	POTEG	118	2	0			c.C261T						scavenged	.						74	96	89					14																	19553677		1962	4007	5969	SO:0001819	synonymous_variant	404785	exon1			CCACGACGACTCT		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.261C>T	14.37:g.19553677C>T		Somatic	704	1	0.00142045		WXS	Illumina HiSeq	Phase_I	1110	83	0.0747748	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																			.	.	none		0.612	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		T	19553677	C	T	19553677	2	4	22	1	0	0	0	0	0	0	0	1	12266	535	19	1		1	POTEG	14	19553677	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	183	19553677	87795863	7252	12360										
POTEG	404785	hgsc.bcm.edu	37	chr14	19563532	19563532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtatgctgtttctagtcAtcataatgtgtaagtgttta	9	4	3	1	rs199732644		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:19563532A>G	ENST00000409832.3	+	5	1098	c.1046A>G	c.(1045-1047)cAt>cGt	p.H349R	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	349				H -> R (in Ref. 1; AAS58868/AAS58871). {ECO:0000305}.						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTTTCTAGTCATCATAATGTG	0.353																																					p.H349R		Atlas-SNP	.											POTEG,NS,carcinoma,-1,2	POTEG	118	2	0			c.A1046G						scavenged	.	A	ARG/HIS	52,2240		0,52,1094	61	98	86		1046	-1	0	14	dbSNP_134	86	3,4981		0,3,2489	no	missense	POTEG	NM_001005356.2	29	0,55,3583	GG,GA,AA		0.0602,2.2688,0.7559	benign	349/509	19563532	55,7221	1146	2492	3638	SO:0001583	missense	404785	exon5			CTAGTCATCATAA		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1046A>G	14.37:g.19563532A>G	ENSP00000386971:p.His349Arg	Somatic	293	1	0.00341297		WXS	Illumina HiSeq	Phase_I	320	10	0.03125	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	N	0.424	-0.906853	0.02434	0.022688	6.02E-4	ENSG00000222036	ENST00000409832	T	0.62941	-0.01	1.09	-1.03	0.10102	Ankyrin repeat-containing domain (4);	3.636160	0.02887	N	0.133696	T	0.28928	0.0718	N	0.17248	0.465	0.80722	P	0.0	B	0.16802	0.019	B	0.20955	0.032	T	0.16217	-1.0410	9	0.34782	T	0.22	.	5.8199	0.18522	0.235:0.0:0.765:0.0	.	349	Q6S5H5	POTEG_HUMAN	R	349	ENSP00000386971:H349R	ENSP00000386971:H349R	H	+	2	0	POTEG	18633532	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	0.831000	0.27476	-0.390000	0.07774	-1.412000	0.01120	CAT	A|0.250;G|0.750	0.750	weak		0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		G	19563532	A	G	19563532	3	3	22	1	0	0	0	0	1	0	0	0	12266	217	8	2	1064	2	POTEG	14	19563532	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9855	19563532	87786008	7253	12361										
OR4N2	390429	hgsc.bcm.edu	37	chr14	20295972	20295972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgtgatggcctttgaccGctacatcgccatctgccggc	11	13	1	2	rs76952476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20295972G>A	ENST00000315947.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR4N2_ENST00000568211.1_Missense_Mutation_p.R122H	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTTGACCGCTACATCGCC	0.507													.|||	121	0.0241613	0.09	0.0029	5008	,	,		28676	0.0		0.0	False		,,,				2504	0.0				p.R122H		Atlas-SNP	.											OR4N2,NS,carcinoma,+1,5	OR4N2	125	5	0			c.G365A						PASS	.	G	HIS/ARG	333,4073		8,317,1878	158	168	165		365	4.5	1	14	dbSNP_131	165	3,8597		0,3,4297	no	missense	OR4N2	NM_001004723.1	29	8,320,6175	AA,AG,GG		0.0349,7.5579,2.5834	probably-damaging	122/308	20295972	336,12670	2203	4300	6503	SO:0001583	missense	390429	exon1			TTGACCGCTACAT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.365G>A	14.37:g.20295972G>A	ENSP00000319601:p.Arg122His	Somatic	486	0	0		WXS	Illumina HiSeq	Phase_I	383	171	0.446475	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	46	0.021062271062271064	44	0.08943089430894309	2	0.0055248618784530384	0	0.0	0	0.0	.	18.31	3.594861	0.66219	0.075579	3.49E-4	ENSG00000176294	ENST00000557677;ENST00000315947	D;T	0.97161	-4.27;-1.1	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	T	0.66665	0.2812	M	0.90252	3.1	0.36488	D	0.868276	B	0.34103	0.437	B	0.30782	0.12	T	0.83054	-0.0151	10	0.72032	D	0.01	-14.9923	15.1112	0.72359	0.0:0.0:1.0:0.0	.	122	Q8NGD1	OR4N2_HUMAN	H	122	ENSP00000452022:R122H;ENSP00000319601:R122H	ENSP00000319601:R122H	R	+	2	0	OR4N2	19365812	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	5.956000	0.70315	2.488000	0.83962	0.591000	0.81541	CGC	G|0.977;A|0.023	0.023	strong		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20295972	G	A	20295972	3	1	22	1	0	0	0	0	1	0	0	0	11077	1087	38	1	367	1	OR4N2	14	20295972	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	732440	20295972	87053568	7254	12362										
OR4K15	81127	hgsc.bcm.edu	37	chr14	20443751	20443751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagtcccttccaaaatcgaTgaatgagacaaatcattctc	5	10	2	2	rs139828094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20443751T>G	ENST00000305051.5	+	1	149	c.74T>G	c.(73-75)aTg>aGg	p.M25R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAAAATCGATGAATGAGACA	0.383													T|||	23	0.00459265	0.0174	0.0	5008	,	,		20008	0.0		0.0	False		,,,				2504	0.0				p.M25R		Atlas-SNP	.											.	OR4K15	82	.	0			c.T74G						PASS	.	T	ARG/MET	56,4350		0,56,2147	103	104	103		74	2	1	14	dbSNP_134	103	2,8596		0,2,4297	yes	missense	OR4K15	NM_001005486.1	91	0,58,6444	GG,GT,TT		0.0233,1.271,0.446	probably-damaging	25/349	20443751	58,12946	2203	4299	6502	SO:0001583	missense	81127	exon1			AATCGATGAATGA		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.74T>G	14.37:g.20443751T>G	ENSP00000304077:p.Met25Arg	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	193	102	0.528497	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	.	12.07	1.827026	0.32329	0.01271	2.33E-4	ENSG00000169488	ENST00000305051	T	0.01414	4.92	3.26	1.98	0.26296	.	0.000000	0.53938	D	0.000058	T	0.02970	0.0088	M	0.90595	3.13	0.22754	N	0.998776	D	0.63880	0.993	D	0.67382	0.951	T	0.12941	-1.0528	10	0.72032	D	0.01	.	2.5999	0.04864	0.2303:0.1328:0.0:0.6369	.	25	Q8NH41	OR4KF_HUMAN	R	25	ENSP00000304077:M25R	ENSP00000304077:M25R	M	+	2	0	OR4K15	19513591	0.762000	0.28451	0.970000	0.41538	0.716000	0.41182	1.136000	0.31467	1.335000	0.45486	0.383000	0.25322	ATG	T|0.994;G|0.006	0.006	strong		0.383	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			G	20443751	T	G	20443751	3	3	22	1	0	0	0	0	1	0	0	0	11070	1464	51	5	76	5	OR4K15	14	20443751	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	147779	20443751	86905789	7255	12363			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20443872	20443872	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatctagcaattctgttgggCaactttctcatcatcctcac	5	12	5	0	rs4499148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20443872C>G	ENST00000305051.5	+	1	270	c.195C>G	c.(193-195)ggC>ggG	p.G65G		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGTTGGGCAACTTTCTCA	0.443													C|||	1880	0.375399	0.7451	0.2017	5008	,	,		21174	0.1498		0.2435	False		,,,				2504	0.3671				p.G65G		Atlas-SNP	.											OR4K15,NS,carcinoma,+1,1	OR4K15	82	1	0			c.C195G						scavenged	.	C		3038,1368		1038,962,203	100	115	109		195	-4.4	0.7	14	dbSNP_111	109	2426,6172		333,1760,2206	no	coding-synonymous	OR4K15	NM_001005486.1		1371,2722,2409	GG,GC,CC		28.2159,31.0486,42.0178		65/349	20443872	5464,7540	2203	4299	6502	SO:0001819	synonymous_variant	81127	exon1			GTTGGGCAACTTT		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.195C>G	14.37:g.20443872C>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	192	190	0.989583	NM_001005486	B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	CCDS32026.1																																																																																			.	.	weak		0.443	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			G	20443872	C	G	20443872	2	3	22	1	0	0	0	0	0	0	0	1	11070	697	25	4		4	OR4K15	14	20443872	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121	20443872	86905668	7256	12364			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20443943	20443943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtactttctgcttgcaaAcctgtcatttatagacgtat	6	9	2	1	rs4060024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20443943A>G	ENST00000305051.5	+	1	341	c.266A>G	c.(265-267)aAc>aGc	p.N89S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	89			N -> S (in dbSNP:rs4060024). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCTTGCAAACCTGTCATTT	0.443													A|||	1880	0.375399	0.7451	0.2017	5008	,	,		22854	0.1498		0.2435	False		,,,				2504	0.3671				p.N89S		Atlas-SNP	.											.	OR4K15	82	.	0			c.A266G						PASS	.	A	SER/ASN	3031,1375		1039,953,211	90	102	98		266	1.1	0.4	14	dbSNP_108	98	2424,6172		335,1754,2209	no	missense	OR4K15	NM_001005486.1	46	1374,2707,2420	GG,GA,AA		28.1992,31.2074,41.9551	probably-damaging	89/349	20443943	5455,7547	2203	4298	6501	SO:0001583	missense	81127	exon1			TTGCAAACCTGTC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.266A>G	14.37:g.20443943A>G	ENSP00000304077:p.Asn89Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	178	177	0.994382	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	697	0.3191391941391941	353	0.717479674796748	70	0.19337016574585636	82	0.14335664335664336	192	0.2532981530343008	.	9.577	1.122587	0.20877	0.687926	0.281992	ENSG00000169488	ENST00000305051	T	0.12774	2.65	3.61	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.110120	0.40302	N	0.001124	T	0.00012	0.0000	M	0.71206	2.165	0.41247	P	0.013314999999999966	D	0.61080	0.989	P	0.53401	0.725	T	0.38394	-0.9663	9	0.62326	D	0.03	.	0.8705	0.01213	0.4864:0.2021:0.1155:0.196	rs4060024;rs7159237;rs57980873;rs4060024	89	Q8NH41	OR4KF_HUMAN	S	89	ENSP00000304077:N89S	ENSP00000304077:N89S	N	+	2	0	OR4K15	19513783	0.235000	0.23794	0.398000	0.26321	0.129000	0.20672	1.917000	0.39996	0.030000	0.15379	-0.468000	0.05107	AAC	.	.	weak		0.443	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			G	20443943	A	G	20443943	3	3	22	1	0	0	0	0	1	0	0	0	11070	43	2	2	268	2	OR4K15	14	20443943	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71	20443943	86905597	7257	12365			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20444012	20444012	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgcagactttctggttgAgcgcaagactatttcttttg	10	7	2	3	rs3861512	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20444012A>T	ENST00000305051.5	+	1	410	c.335A>T	c.(334-336)gAg>gTg	p.E112V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	112			E -> V (in dbSNP:rs3861512). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTGGTTGAGCGCAAGACT	0.448													A|||	1093	0.218251	0.2141	0.1715	5008	,	,		22012	0.123		0.2227	False		,,,				2504	0.3507				p.E112V		Atlas-SNP	.											OR4K15,colon,carcinoma,0,2	OR4K15	82	2	0			c.A335T						PASS	.	A	VAL/GLU	1058,3348		122,814,1267	126	132	130		335	-0.3	0	14	dbSNP_108	130	2282,6312		290,1702,2305	yes	missense	OR4K15	NM_001005486.1	121	412,2516,3572	TT,TA,AA		26.5534,24.0127,25.6923	benign	112/349	20444012	3340,9660	2203	4297	6500	SO:0001583	missense	81127	exon1			TGGTTGAGCGCAA		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.335A>T	14.37:g.20444012A>T	ENSP00000304077:p.Glu112Val	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	198	196	0.989899	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	400	0.18315018315018314	95	0.19308943089430894	65	0.17955801104972377	66	0.11538461538461539	174	0.22955145118733508	.	6.499	0.460280	0.12342	0.240127	0.265534	ENSG00000169488	ENST00000305051	T	0.01572	4.76	3.6	-0.288	0.12855	GPCR, rhodopsin-like superfamily (1);	0.388604	0.21610	N	0.071810	T	0.00012	0.0000	M	0.71036	2.16	0.80722	P	0.0	P	0.37781	0.608	B	0.38428	0.273	T	0.48007	-0.9072	9	0.66056	D	0.02	.	7.2471	0.26127	0.5441:0.0:0.4559:0.0	rs3861512;rs17210948;rs52792471;rs61025663;rs3861512	112	Q8NH41	OR4KF_HUMAN	V	112	ENSP00000304077:E112V	ENSP00000304077:E112V	E	+	2	0	OR4K15	19513852	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.973000	0.29422	-0.252000	0.09528	-0.361000	0.07541	GAG	A|0.772;T|0.228	0.228	strong		0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			T	20444012	A	T	20444012	3	4	22	1	0	0	0	0	1	0	0	0	11070	304	11	5	337	5	OR4K15	14	20444012	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69	20444012	86905528	7258	12366			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20444026	20444026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttgagcgcaagactattTcttttgatgcctgcctggcc	11	10	1	3	rs3861513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20444026T>G	ENST00000305051.5	+	1	424	c.349T>G	c.(349-351)Tct>Gct	p.S117A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	117			S -> A (in dbSNP:rs3861513). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGACTATTTCTTTTGATGC	0.433													T|||	1093	0.218251	0.2141	0.1715	5008	,	,		22872	0.123		0.2227	False		,,,				2504	0.3507				p.S117A		Atlas-SNP	.											.	OR4K15	82	.	0			c.T349G						PASS	.	T	ALA/SER	1058,3348		122,814,1267	134	137	136		349	3.8	0.8	14	dbSNP_108	136	2283,6313		291,1701,2306	no	missense	OR4K15	NM_001005486.1	99	413,2515,3573	GG,GT,TT		26.5589,24.0127,25.696	probably-damaging	117/349	20444026	3341,9661	2203	4298	6501	SO:0001583	missense	81127	exon1			ACTATTTCTTTTG		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.349T>G	14.37:g.20444026T>G	ENSP00000304077:p.Ser117Ala	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	191	191	1	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	400	0.18315018315018314	95	0.19308943089430894	65	0.17955801104972377	66	0.11538461538461539	174	0.22955145118733508	.	15.40	2.823282	0.50739	0.240127	0.265589	ENSG00000169488	ENST00000305051	T	0.00700	5.82	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00012	0.0000	M	0.92459	3.31	0.40068	P	0.024025999999999992	D	0.71674	0.998	P	0.60286	0.872	T	0.31971	-0.9924	9	0.72032	D	0.01	.	10.5358	0.45002	0.0:0.0:0.0:1.0	rs3861513;rs58615739;rs3861513	117	Q8NH41	OR4KF_HUMAN	A	117	ENSP00000304077:S117A	ENSP00000304077:S117A	S	+	1	0	OR4K15	19513866	0.833000	0.29383	0.755000	0.31263	0.388000	0.30384	1.743000	0.38258	1.578000	0.49821	0.477000	0.44152	TCT	T|0.767;G|0.233	0.233	strong		0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			G	20444026	T	G	20444026	3	3	22	1	0	0	0	0	1	0	0	0	11070	1783	62	5	351	5	OR4K15	14	20444026	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	20444026	86905514	7259	12367			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20444193	20444193	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgtgctcgtcctcatttcAtggtttgtgggcttcatcca	10	10	3	0	rs2318556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20444193A>C	ENST00000305051.5	+	1	591	c.516A>C	c.(514-516)tcA>tcC	p.S172S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCATTTCATGGTTTGTGG	0.443													C|||	1885	0.376398	0.7481	0.2017	5008	,	,		22524	0.1498		0.2435	False		,,,				2504	0.3681				p.S172S		Atlas-SNP	.											.	OR4K15	82	.	0			c.A516C						PASS	.	C		3043,1363		1041,961,201	148	147	147		516	-3.8	0	14	dbSNP_100	147	2447,6151		337,1773,2189	no	coding-synonymous	OR4K15	NM_001005486.1		1378,2734,2390	CC,CA,AA		28.4601,30.9351,42.2178		172/349	20444193	5490,7514	2203	4299	6502	SO:0001819	synonymous_variant	81127	exon1			CATTTCATGGTTT		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.516A>C	14.37:g.20444193A>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	221	220	0.995475	NM_001005486	B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	CCDS32026.1																																																																																			A|0.619;C|0.380;G|0.001	0.380	strong		0.443	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			C	20444193	A	C	20444193	2	2	22	1	0	0	0	0	0	0	0	1	11070	204	8	5		5	OR4K15	14	20444193	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	167	20444193	86905347	7260	12368			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20444588	20444588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctacaccatcttcacgcTtattttaaaccctgtaatct	2	12	4	0	rs2153466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20444588T>C	ENST00000305051.5	+	1	986	c.911T>C	c.(910-912)cTt>cCt	p.L304P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	304			L -> P (in dbSNP:rs2153466). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTCACGCTTATTTTAAAC	0.408													C|||	1885	0.376398	0.7496	0.2017	5008	,	,		18141	0.1498		0.2435	False		,,,				2504	0.3661				p.L304P		Atlas-SNP	.											.	OR4K15	82	.	0			c.T911C						PASS	.	C	PRO/LEU	3041,1365		1040,961,202	107	108	108		911	4	0.7	14	dbSNP_96	108	2424,6176		332,1760,2208	no	missense	OR4K15	NM_001005486.1	98	1372,2721,2410	CC,CT,TT		28.186,30.9805,42.0191	benign	304/349	20444588	5465,7541	2203	4300	6503	SO:0001583	missense	81127	exon1			TCACGCTTATTTT		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.911T>C	14.37:g.20444588T>C	ENSP00000304077:p.Leu304Pro	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	235	235	1	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	696	0.31868131868131866	353	0.717479674796748	70	0.19337016574585636	81	0.14160839160839161	192	0.2532981530343008	.	0.012	-1.649809	0.00785	0.690195	0.28186	ENSG00000169488	ENST00000305051	T	0.30714	1.52	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	N	0.000110	T	0.00012	0.0000	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40572	-0.9556	9	0.02654	T	1	.	9.6002	0.39598	0.0:0.8945:0.0:0.1055	rs2153466;rs17276905;rs52807813;rs57272158;rs2153466	304	Q8NH41	OR4KF_HUMAN	P	304	ENSP00000304077:L304P	ENSP00000304077:L304P	L	+	2	0	OR4K15	19514428	0.958000	0.32768	0.749000	0.31150	0.194000	0.23727	4.153000	0.58118	0.895000	0.36342	-0.186000	0.12905	CTT	T|0.613;C|0.387	0.387	strong		0.408	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			C	20444588	T	C	20444588	3	2	22	1	0	0	0	0	1	0	0	0	11070	1609	56	3	913	3	OR4K15	14	20444588	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	395	20444588	86904952	7261	12369			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K15	81127	hgsc.bcm.edu	37	chr14	20444607	20444607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttattttaaaccctgtaatCtacacgctaagaaacaaaga	4	9	1	2	rs10135467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20444607C>G	ENST00000305051.5	+	1	1005	c.930C>G	c.(928-930)atC>atG	p.I310M		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	310			I -> M (in dbSNP:rs10135467). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCTGTAATCTACACGCTAA	0.398													C|||	1099	0.219449	0.2186	0.1715	5008	,	,		17634	0.123		0.2227	False		,,,				2504	0.3507				p.I310M		Atlas-SNP	.											.	OR4K15	82	.	0			c.C930G						PASS	.	C	MET/ILE	1057,3347		121,815,1266	96	95	96		930	-0.4	0.9	14	dbSNP_119	96	2284,6316		289,1706,2305	no	missense	OR4K15	NM_001005486.1	10	410,2521,3571	GG,GC,CC		26.5581,24.0009,25.6921	probably-damaging	310/349	20444607	3341,9663	2202	4300	6502	SO:0001583	missense	81127	exon1			TGTAATCTACACG		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.930C>G	14.37:g.20444607C>G	ENSP00000304077:p.Ile310Met	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	209	207	0.990431	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	402	0.18406593406593408	97	0.19715447154471544	65	0.17955801104972377	66	0.11538461538461539	174	0.22955145118733508	.	12.66	2.004692	0.35320	0.240009	0.265581	ENSG00000169488	ENST00000305051	T	0.57273	0.41	3.69	-0.451	0.12214	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00012	0.0000	M	0.72353	2.195	0.38036	P	0.064697	D	0.89917	1.0	D	0.76575	0.988	T	0.06716	-1.0811	9	0.87932	D	0	.	3.7838	0.08692	0.171:0.5187:0.0:0.3104	rs10135467;rs17276912;rs10135467	310	Q8NH41	OR4KF_HUMAN	M	310	ENSP00000304077:I310M	ENSP00000304077:I310M	I	+	3	3	OR4K15	19514447	0.070000	0.21116	0.927000	0.36925	0.707000	0.40811	-0.927000	0.03984	-0.217000	0.10033	0.591000	0.81541	ATC	C|0.770;G|0.230	0.230	strong		0.398	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			G	20444607	C	G	20444607	3	3	22	1	0	0	0	0	1	0	0	0	11070	903	32	4	932	4	OR4K15	14	20444607	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	20444607	86904933	7262	12370			26	55		8	8	857	N	T_C_A	3.69192e-08
OR4K13	390433	hgsc.bcm.edu	37	chr14	20502779	20502779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaatcaaaggtcacagtcaCcaagatgagcaggtttccta	9	10	3	2	rs144683363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20502779C>T	ENST00000315693.2	-	1	140	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCACAGTCACCAAGATGAGC	0.423													C|||	55	0.0109824	0.0393	0.0043	5008	,	,		21594	0.0		0.0	False		,,,				2504	0.0				p.V47M		Atlas-SNP	.											.	OR4K13	68	.	0			c.G139A						PASS	.	C	MET/VAL	178,4228		4,170,2029	109	99	102		139	-1.9	0	14	dbSNP_134	102	1,8599		0,1,4299	yes	missense	OR4K13	NM_001004714.1	21	4,171,6328	TT,TC,CC		0.0116,4.0399,1.3763	possibly-damaging	47/305	20502779	179,12827	2203	4300	6503	SO:0001583	missense	390433	exon1			CAGTCACCAAGAT		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.139G>A	14.37:g.20502779C>T	ENSP00000319322:p.Val47Met	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	86	39	0.453488	NM_001004714	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	27	0.012362637362637362	27	0.054878048780487805	0	0.0	0	0.0	0	0.0	.	10.51	1.369413	0.24771	0.040399	1.16E-4	ENSG00000176253	ENST00000315693	T	0.01113	5.32	3.75	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	0.760143	0.10674	U	0.647227	T	0.00241	0.0007	L	0.49571	1.57	0.09310	N	1	B	0.31077	0.307	B	0.22601	0.04	T	0.44682	-0.9312	10	0.52906	T	0.07	.	4.8534	0.13547	0.0:0.3611:0.2819:0.357	.	47	Q8NH42	OR4KD_HUMAN	M	47	ENSP00000319322:V47M	ENSP00000319322:V47M	V	-	1	0	OR4K13	19572619	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.485000	0.06520	-0.020000	0.14032	-0.335000	0.08231	GTG	C|0.985;T|0.015	0.015	strong		0.423	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			T	20502779	C	T	20502779	3	4	22	1	0	0	0	0	1	0	0	0	11068	507	18	2	777	2	OR4K13	14	20502779	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58172	20502779	86846761	7263	12371										
OR4L1	122742	hgsc.bcm.edu	37	chr14	20528207	20528207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttctgagttgagtaaatgGatcttaaaaatggatctcta	8	5	3	2	rs1958715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20528207G>A	ENST00000315683.1	+	1	4	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	2			D -> N (in dbSNP:rs1958715).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGAGTAAATGGATCTTAAAAA	0.299													g|||	2688	0.536741	0.4902	0.5562	5008	,	,		17781	0.5734		0.3857	False		,,,				2504	0.7035				p.D2N		Atlas-SNP	.											.	OR4L1	98	.	0			c.G4A						PASS	.		ASN/ASP	2146,2260		521,1104,578	103	112	109		4	1.4	0.8	14	dbSNP_92	109	3457,5141		730,1997,1572	yes	missense	OR4L1	NM_001004717.1	23	1251,3101,2150	AA,AG,GG		40.207,48.7063,43.0867	possibly-damaging	2/313	20528207	5603,7401	2203	4299	6502	SO:0001583	missense	122742	exon1			TAAATGGATCTTA		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.4G>A	14.37:g.20528207G>A	ENSP00000319217:p.Asp2Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	90	41	0.455556	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	1083	0.4958791208791209	255	0.5182926829268293	192	0.5303867403314917	320	0.5594405594405595	316	0.41688654353562005	.	8.093	0.775042	0.16051	0.487063	0.40207	ENSG00000176246	ENST00000315683	T	0.03004	4.08	3.28	1.4	0.22301	.	0.569745	0.15717	N	0.248106	T	0.00012	0.0000	L	0.33245	0.995	0.39736	P	0.02832199999999996	B	0.09022	0.002	B	0.10450	0.005	T	0.20739	-1.0266	9	0.25751	T	0.34	.	6.4376	0.21831	0.1113:0.1873:0.7014:0.0	rs1958715;rs17126014;rs52801958;rs61492536;rs1958715	2	Q8NH43	OR4L1_HUMAN	N	2	ENSP00000319217:D2N	ENSP00000319217:D2N	D	+	1	0	OR4L1	19598047	0.000000	0.05858	0.786000	0.31890	0.504000	0.33889	-0.124000	0.10595	0.395000	0.25257	0.639000	0.83563	GAT	G|0.535;A|0.465	0.465	strong		0.299	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			A	20528207	G	A	20528207	3	1	22	1	0	0	0	0	1	0	0	0	11074	1174	41	2	6	2	OR4L1	14	20528207	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25428	20528207	86821333	7264	12372										
OR4L1	122742	hgsc.bcm.edu	37	chr14	20528321	20528321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatctacggtgctactgtgAtgggaaacattctcattatg	10	7	2	2	rs1958716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20528321A>G	ENST00000315683.1	+	1	118	c.118A>G	c.(118-120)Atg>Gtg	p.M40V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	40			M -> V (in dbSNP:rs1958716).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCTACTGTGATGGGAAACAT	0.393													N|||	2688	0.536741	0.4902	0.5562	5008	,	,		20619	0.5734		0.3857	False		,,,				2504	0.7035				p.M40V		Atlas-SNP	.											.	OR4L1	98	.	0			c.A118G						PASS	.		VAL/MET	2154,2252		521,1112,570	180	185	183		118	-5.8	0	14	dbSNP_92	183	3465,5135		729,2007,1564	yes	missense	OR4L1	NM_001004717.1	21	1250,3119,2134	GG,GA,AA		40.2907,48.8879,43.2031	benign	40/313	20528321	5619,7387	2203	4300	6503	SO:0001583	missense	122742	exon1			ACTGTGATGGGAA		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.118A>G	14.37:g.20528321A>G	ENSP00000319217:p.Met40Val	Somatic	342	1	0.00292398		WXS	Illumina HiSeq	Phase_I	345	154	0.446377	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	1083	0.4958791208791209	255	0.5182926829268293	192	0.5303867403314917	320	0.5594405594405595	316	0.41688654353562005	.	5.342	0.248431	0.10130	0.488879	0.402907	ENSG00000176246	ENST00000315683	T	0.00448	7.38	3.84	-5.83	0.02325	.	1.004810	0.08017	N	0.991451	T	0.00012	0.0000	N	0.03238	-0.38	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	9	0.30854	T	0.27	.	0.3958	0.00418	0.3004:0.1965:0.13:0.3731	rs1958716;rs17126034;rs52817587;rs59618621;rs1958716	40	Q8NH43	OR4L1_HUMAN	V	40	ENSP00000319217:M40V	ENSP00000319217:M40V	M	+	1	0	OR4L1	19598161	0.000000	0.05858	0.001000	0.08648	0.960000	0.62799	-5.017000	0.00159	-1.322000	0.02278	-0.148000	0.13756	ATG	A|0.531;G|0.469	0.469	strong		0.393	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			G	20528321	A	G	20528321	3	3	22	1	0	0	0	0	1	0	0	0	11074	333	12	2	120	2	OR4L1	14	20528321	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	114	20528321	86821219	7265	12373										
TTC5	91875	hgsc.bcm.edu	37	chr14	20757804	20757804	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcattcacactgtggtcgCgatgccactgtggcaacagc	12	12	2	0	rs3737220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20757804C>A	ENST00000258821.3	-	10	1361	c.1305G>T	c.(1303-1305)tcG>tcT	p.S435S	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	435					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ACTGTGGTCGCGATGCCACTG	0.562													C|||	583	0.116414	0.0333	0.0821	5008	,	,		19180	0.0972		0.1918	False		,,,				2504	0.1953				p.S435S		Atlas-SNP	.											TTC5,NS,carcinoma,-1,3	TTC5	34	3	0			c.G1305T						PASS	.	C		233,4173	140.4+/-175.9	4,225,1974	88	66	74		1305	-11	0	14	dbSNP_107	74	1724,6876	313.7+/-311.4	176,1372,2752	no	coding-synonymous	TTC5	NM_138376.2		180,1597,4726	AA,AC,CC		20.0465,5.2882,15.0469		435/441	20757804	1957,11049	2203	4300	6503	SO:0001819	synonymous_variant	91875	exon10			TGGTCGCGATGCC	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1305G>T	14.37:g.20757804C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_138376	A8MQ18|Q96HF9	Silent	SNP	ENST00000258821.3	37	CCDS9546.1	240	0.10989010989010989	15	0.03048780487804878	34	0.09392265193370165	50	0.08741258741258741	141	0.18601583113456466	C	0.191	-1.053540	0.01965	0.052882	0.200465	ENSG00000136319	ENST00000423949	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.32804	P	0.499533	.	.	.	.	.	.	T	0.03017	-1.1082	3	.	.	.	.	3.4477	0.07486	0.3023:0.3955:0.2168:0.0855	rs3737220;rs3737220	.	.	.	S	380	.	.	A	-	1	0	TTC5	19827644	0.000000	0.05858	0.003000	0.11579	0.150000	0.21749	-5.813000	0.00097	-3.884000	0.00095	-1.283000	0.01379	GCG	C|0.873;A|0.127	0.127	strong		0.562	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20757804	C	A	20757804	2	1	22	1	0	0	0	0	0	0	0	1	16708	755	27	4		4	TTC5	14	20757804	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	229483	20757804	86591736	7266	12374										
TEP1	7011	hgsc.bcm.edu	37	chr14	20837033	20837033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaactcaggtagcacaTggagggctgtgacagagccc	13	12	1	2	rs2104978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20837033T>C	ENST00000262715.5	-	54	7725	c.7685A>G	c.(7684-7686)cAt>cGt	p.H2562R	TEP1_ENST00000556935.1_Missense_Mutation_p.H2454R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2562			H -> R (in dbSNP:rs2104978).		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)		AGGTAGCACATGGAGGGCTGT	0.527													T|||	173	0.0345447	0.003	0.0317	5008	,	,		16457	0.002		0.0656	False		,,,				2504	0.0808				p.H2562R		Atlas-SNP	.											.	TEP1	224	.	0			c.A7685G						PASS	.	T	ARG/HIS	62,4344	60.5+/-97.4	0,62,2141	87	67	74		7685	5.8	1	14	dbSNP_96	74	570,8030	153.6+/-207.9	17,536,3747	yes	missense	TEP1	NM_007110.4	29	17,598,5888	CC,CT,TT		6.6279,1.4072,4.8593	probably-damaging	2562/2628	20837033	632,12374	2203	4300	6503	SO:0001583	missense	7011	exon54			AGCACATGGAGGG		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.7685A>G	14.37:g.20837033T>C	ENSP00000262715:p.His2562Arg	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	198	81	0.409091	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	63	0.028846153846153848	0	0.0	12	0.03314917127071823	0	0.0	51	0.06728232189973615	T	21.4	4.151048	0.78001	0.014072	0.066279	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.58210	0.35;0.35	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181219	0.42964	D	0.000629	T	0.10594	0.0259	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.961;0.977	T	0.22556	-1.0213	10	0.13108	T	0.6	-17.9579	13.6839	0.62504	0.0:0.0:0.0:1.0	rs2104978;rs2228033;rs17277305;rs52818387;rs2104978	2454;2562	G3V5X7;Q99973	.;TEP1_HUMAN	R	2562;2554;2454	ENSP00000262715:H2562R;ENSP00000452574:H2454R	ENSP00000262715:H2562R	H	-	2	0	TEP1	19906873	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.917000	0.56424	2.226000	0.72624	0.482000	0.46254	CAT	T|0.957;C|0.043	0.043	strong		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20837033	T	C	20837033	3	2	22	1	0	0	0	0	1	0	0	0	15756	1464	51	2	206	2	TEP1	14	20837033	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79229	20837033	86512507	7267	12375										
TEP1	7011	hgsc.bcm.edu	37	chr14	20844383	20844383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctgccttgtgtggccgCgtcagcagctgccttggcca	12	14	3	0	rs2228042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20844383C>T	ENST00000262715.5	-	42	6169	c.6129G>A	c.(6127-6129)acG>acA	p.T2043T	TEP1_ENST00000545983.1_Silent_p.T381T|TEP1_ENST00000556935.1_Silent_p.T1935T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2043					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)		TGTGTGGCCGCGTCAGCAGCT	0.582													C|||	188	0.0375399	0.0083	0.0346	5008	,	,		18923	0.002		0.0676	False		,,,				2504	0.0849				p.T2043T		Atlas-SNP	.											.	TEP1	224	.	0			c.G6129A						PASS	.	C		93,4313	75.7+/-113.9	0,93,2110	51	51	51		6129	-11.6	0	14	dbSNP_98	51	567,8033	153.1+/-207.6	18,531,3751	no	coding-synonymous	TEP1	NM_007110.4		18,624,5861	TT,TC,CC		6.593,2.1108,5.0746		2043/2628	20844383	660,12346	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon42			TGGCCGCGTCAGC		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.6129G>A	14.37:g.20844383C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	244	129	0.528689	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			T|0.040;G|0.128;C|0.828;A|0.004	0.040	strong		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20844383	C	T	20844383	2	4	22	1	0	0	0	0	0	0	0	1	15756	755	27	1		1	TEP1	14	20844383	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7350	20844383	86505157	7268	12376										
TEP1	7011	hgsc.bcm.edu	37	chr14	20845521	20845521	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaggagccagagggactgAagggagcattccttgagtgc	16	8	0	3	rs2229101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20845521A>C	ENST00000262715.5	-	41	6046	c.6006T>G	c.(6004-6006)ctT>ctG	p.L2002L	TEP1_ENST00000545983.1_Silent_p.L340L|TEP1_ENST00000556935.1_Silent_p.L1894L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2002					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)		AGAGGGACTGAAGGGAGCATT	0.587													A|||	295	0.0589058	0.09	0.036	5008	,	,		14898	0.002		0.0676	False		,,,				2504	0.0828				p.L2002L		Atlas-SNP	.											.	TEP1	224	.	0			c.T6006G						PASS	.	A		370,4036	189.2+/-215.4	17,336,1850	58	51	53		6006	-3.9	0.2	14	dbSNP_98	53	567,8033	153.4+/-207.8	19,529,3752	no	coding-synonymous	TEP1	NM_007110.4		36,865,5602	CC,CA,AA		6.593,8.3976,7.2044		2002/2628	20845521	937,12069	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon41			GGACTGAAGGGAG		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.6006T>G	14.37:g.20845521A>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	92	47	0.51087	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			A|0.936;C|0.064	0.064	strong		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20845521	A	C	20845521	2	2	22	1	0	0	0	0	0	0	0	1	15756	233	9	5		5	TEP1	14	20845521	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1138	20845521	86504019	7269	12377										
TEP1	7011	hgsc.bcm.edu	37	chr14	20846950	20846950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacacggtggctagcagcCggcagtctgggctcaggcag	16	12	2	0	rs8022805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20846950C>T	ENST00000262715.5	-	37	5355	c.5315G>A	c.(5314-5316)cGg>cAg	p.R1772Q	TEP1_ENST00000545983.1_Missense_Mutation_p.R110Q|TEP1_ENST00000556935.1_Missense_Mutation_p.R1664Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1772			R -> Q (in dbSNP:rs8022805).		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)		GGCTAGCAGCCGGCAGTCTGG	0.577													C|||	154	0.0307508	0.003	0.0303	5008	,	,		19563	0.0		0.0586	False		,,,				2504	0.0716				p.R1772Q		Atlas-SNP	.											.	TEP1	224	.	0			c.G5315A						PASS	.	C	GLN/ARG	48,4358	50.9+/-86.3	0,48,2155	83	80	81		5315	4.9	1	14	dbSNP_116	81	497,8103	143.3+/-199.3	21,455,3824	yes	missense	TEP1	NM_007110.4	43	21,503,5979	TT,TC,CC		5.7791,1.0894,4.1904	probably-damaging	1772/2628	20846950	545,12461	2203	4300	6503	SO:0001583	missense	7011	exon37			AGCAGCCGGCAGT		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.5315G>A	14.37:g.20846950C>T	ENSP00000262715:p.Arg1772Gln	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	142	73	0.514085	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	62	0.028388278388278388	0	0.0	12	0.03314917127071823	0	0.0	50	0.06596306068601583	C	22.4	4.290462	0.80914	0.010894	0.057791	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.59083	0.29;0.29;0.29	5.76	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118143	0.53938	D	0.000055	T	0.11324	0.0276	L	0.37800	1.135	0.41831	D	0.990077	D;D;D;D	0.89917	0.992;1.0;0.999;1.0	P;D;D;D	0.68765	0.838;0.933;0.928;0.96	T	0.16335	-1.0406	10	0.31617	T	0.26	-32.352	9.7346	0.40379	0.0:0.9085:0.0:0.0915	rs8022805;rs8022805	110;1664;1115;1772	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	1772;1772;1664;110	ENSP00000262715:R1772Q;ENSP00000452574:R1664Q;ENSP00000438849:R110Q	ENSP00000262715:R1772Q	R	-	2	0	TEP1	19916790	0.208000	0.23494	1.000000	0.80357	0.798000	0.45092	0.601000	0.24119	2.724000	0.93272	0.563000	0.77884	CGG	C|0.963;T|0.037	0.037	strong		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20846950	C	T	20846950	3	4	22	1	0	0	0	0	1	0	0	0	15756	652	23	1	2644	1	TEP1	14	20846950	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1429	20846950	86502590	7270	12378										
TEP1	7011	hgsc.bcm.edu	37	chr14	20849169	20849169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacatggaggttggtaagGaacttcgaaagaagtccacg	12	8	0	1	rs2228039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20849169G>A	ENST00000262715.5	-	33	4723	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Silent_p.F1453F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1561					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)		GGTTGGTAAGGAACTTCGAAA	0.527													A|||	288	0.057508	0.093	0.036	5008	,	,		18921	0.001		0.0676	False		,,,				2504	0.0726				p.F1561F		Atlas-SNP	.											.	TEP1	224	.	0			c.C4683T						PASS	.	A		378,4028	791.5+/-415.1	16,346,1841	69	63	65		4683	-1.8	0.9	14	dbSNP_98	65	565,8035	793.8+/-407.5	20,525,3755	no	coding-synonymous	TEP1	NM_007110.4		36,871,5596	AA,AG,GG		6.5698,8.5792,7.2505		1561/2628	20849169	943,12063	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon33			GGTAAGGAACTTC		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.4683C>T	14.37:g.20849169G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	121	64	0.528926	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			G|0.935;A|0.065	0.065	strong		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20849169	G	A	20849169	2	1	22	1	0	0	0	0	0	0	0	1	15756	1165	41	2		2	TEP1	14	20849169	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2219	20849169	86500371	7271	12379										
TEP1	7011	hgsc.bcm.edu	37	chr14	20850093	20850093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgcagactctggacgaggCaggcaaacgggcccatgggg	17	11	1	1	rs1713456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20850093C>T	ENST00000262715.5	-	30	4443	c.4403G>A	c.(4402-4404)tGc>tAc	p.C1468Y	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.C1360Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		C -> Y (in dbSNP:rs1713456).		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)		CTGGACGAGGCAGGCAAACGG	0.612													T|||	1198	0.239217	0.4448	0.1888	5008	,	,		17667	0.0992		0.1889	False		,,,				2504	0.1933				p.C1468Y		Atlas-SNP	.											TEP1,NS,carcinoma,+1,1	TEP1	224	1	0			c.G4403A						PASS	.	T	TYR/CYS	1672,2734	655.1+/-399.9	327,1018,858	147	132	137		4403	3.8	1	14	dbSNP_89	137	1579,7021	744.7+/-407.2	141,1297,2862	yes	missense	TEP1	NM_007110.4	194	468,2315,3720	TT,TC,CC		18.3605,37.9483,24.9962	benign	1468/2628	20850093	3251,9755	2203	4300	6503	SO:0001583	missense	7011	exon30			ACGAGGCAGGCAA		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.4403G>A	14.37:g.20850093C>T	ENSP00000262715:p.Cys1468Tyr	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	486	0.22252747252747251	213	0.4329268292682927	73	0.20165745856353592	50	0.08741258741258741	150	0.19788918205804748	T	0.800	-0.755646	0.03019	0.379483	0.183605	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.43688	1.01;0.94	4.98	3.82	0.43975	.	0.431628	0.25302	N	0.031653	T	0.00012	0.0000	N	0.00170	-1.935	0.09310	P	0.999999999813782	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45175	-0.9279	9	0.02654	T	1	-6.2294	4.6463	0.12574	0.1671:0.0917:0.0:0.7411	rs1713456;rs2228029;rs52817703;rs60076485;rs1713456	1360;811;1468	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Y	1468;1468;1360	ENSP00000262715:C1468Y;ENSP00000452574:C1360Y	ENSP00000262715:C1468Y	C	-	2	0	TEP1	19919933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.613000	0.24299	0.325000	0.23359	-0.521000	0.04368	TGC	C|0.754;A|0.001	.	strong		0.612	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20850093	C	T	20850093	3	4	22	1	0	0	0	0	1	0	0	0	15756	710	25	2	3584	2	TEP1	14	20850093	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	924	20850093	86499447	7272	12380										
TEP1	7011	hgsc.bcm.edu	37	chr14	20852029	20852029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtggaagaagactaatgAtgccaccttggccccatcag	10	10	1	3	rs1760904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20852029A>G	ENST00000262715.5	-	25	3623	c.3583T>C	c.(3583-3585)Tca>Cca	p.S1195P	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Missense_Mutation_p.S1087P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1195	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		S -> P (in dbSNP:rs1760904). {ECO:0000269|PubMed:9020079}.		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)		AAGACTAATGATGCCACCTTG	0.537													G|||	3462	0.691294	0.9644	0.6196	5008	,	,		21215	0.6181		0.4732	False		,,,				2504	0.6728				p.S1195P		Atlas-SNP	.											.	TEP1	224	.	0			c.T3583C						PASS	.	G	PRO/SER	3918,488	218.7+/-236.7	1749,420,34	40	46	44		3583	4.8	0.5	14	dbSNP_89	44	4060,4540	582.2+/-391.4	941,2178,1181	yes	missense	TEP1	NM_007110.4	74	2690,2598,1215	GG,GA,AA		47.2093,11.0758,38.6591	benign	1195/2628	20852029	7978,5028	2203	4300	6503	SO:0001583	missense	7011	exon25			CTAATGATGCCAC		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.3583T>C	14.37:g.20852029A>G	ENSP00000262715:p.Ser1195Pro	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	1384	0.6336996336996337	466	0.9471544715447154	211	0.5828729281767956	348	0.6083916083916084	359	0.4736147757255937	G	1.256	-0.617162	0.03663	0.889242	0.472093	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.78816	-1.21;-1.21	5.84	4.77	0.60923	NACHT nucleoside triphosphatase (1);	0.196582	0.44902	N	0.000417	T	0.00012	0.0000	N	0.02011	-0.69	0.44798	P	0.0021980000000000333	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38001	-0.9681	9	0.08599	T	0.76	-18.4575	9.2287	0.37423	0.1878:0.0:0.8122:0.0	rs1760904;rs2228038;rs17211362;rs52790546;rs60595270;rs1760904	1087;545;1195	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	P	1195;1195;1087	ENSP00000262715:S1195P;ENSP00000452574:S1087P	ENSP00000262715:S1195P	S	-	1	0	TEP1	19921869	0.410000	0.25376	0.493000	0.27502	0.915000	0.54546	0.938000	0.28965	1.489000	0.48450	-0.119000	0.15052	TCA	A|0.367;G|0.633	0.633	strong		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20852029	A	G	20852029	3	3	22	1	0	0	0	0	1	0	0	0	15756	333	12	2	4424	2	TEP1	14	20852029	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1936	20852029	86497511	7273	12381										
TEP1	7011	hgsc.bcm.edu	37	chr14	20852267	20852267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccgtggggcagcatcagcCgttgcactgtgtcctgaaga	13	11	1	2	rs2228041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20852267C>T	ENST00000262715.5	-	24	3504	c.3464G>A	c.(3463-3465)cGg>cAg	p.R1155Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1047Q|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1155			R -> Q (in dbSNP:rs2228041). {ECO:0000269|PubMed:9020079}.		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)		CAGCATCAGCCGTTGCACTGT	0.642													T|||	168	0.0335463	0.003	0.0303	5008	,	,		19333	0.0		0.0686	False		,,,				2504	0.0757				p.R1155Q		Atlas-SNP	.											.	TEP1	224	.	0			c.G3464A						PASS	.	T	GLN/ARG	50,4356	819.6+/-416.4	0,50,2153	58	58	58		3464	0.6	0.2	14	dbSNP_98	58	531,8069	793.4+/-407.5	19,493,3788	yes	missense	TEP1	NM_007110.4	43	19,543,5941	TT,TC,CC		6.1744,1.1348,4.4672	benign	1155/2628	20852267	581,12425	2203	4300	6503	SO:0001583	missense	7011	exon24			ATCAGCCGTTGCA		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.3464G>A	14.37:g.20852267C>T	ENSP00000262715:p.Arg1155Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	81	50	0.617284	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	70	0.03205128205128205	0	0.0	9	0.024861878453038673	0	0.0	61	0.08047493403693931	T	0.017	-1.496953	0.01001	0.011348	0.061744	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.81247	-1.47;-1.47	5.62	0.586	0.17434	.	0.480048	0.22293	N	0.061978	T	0.02533	0.0077	N	0.00483	-1.445	0.09310	P	0.9999999653158	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-3.1745	4.1841	0.10390	0.1522:0.3376:0.0:0.5102	rs2228041;rs17211369;rs52824344;rs2228041	1047;505;1155	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1155;1155;1047	ENSP00000262715:R1155Q;ENSP00000452574:R1047Q	ENSP00000262715:R1155Q	R	-	2	0	TEP1	19922107	0.303000	0.24463	0.188000	0.23233	0.086000	0.17979	0.476000	0.22180	-0.147000	0.11254	-1.062000	0.02293	CGG	C|0.957;T|0.043	0.043	strong		0.642	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20852267	C	T	20852267	3	4	22	1	0	0	0	0	1	0	0	0	15756	652	23	1	4547	1	TEP1	14	20852267	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	238	20852267	86497273	7274	12382										
TEP1	7011	hgsc.bcm.edu	37	chr14	20852817	20852817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcagttctgagatccgacGtgcggcctcttcagactcag	10	13	5	2	rs1760903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20852817G>A	ENST00000262715.5	-	22	3203	c.3163C>T	c.(3163-3165)Cgt>Tgt	p.R1055C	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Missense_Mutation_p.R947C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1055			R -> C (in dbSNP:rs1760903). {ECO:0000269|PubMed:9020079}.		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)		GAGATCCGACGTGCGGCCTCT	0.532													A|||	3172	0.633387	0.7837	0.5994	5008	,	,		17370	0.6121		0.4573	False		,,,				2504	0.6575				p.R1055C		Atlas-SNP	.											.	TEP1	224	.	0			c.C3163T						PASS	.	A	CYS/ARG	3256,1150	407.1+/-334.1	1198,860,145	123	133	129		3163	3.2	0	14	dbSNP_89	129	3910,4690	605.4+/-394.9	877,2156,1267	yes	missense	TEP1	NM_007110.4	180	2075,3016,1412	AA,AG,GG		45.4651,26.1008,44.9024	benign	1055/2628	20852817	7166,5840	2203	4300	6503	SO:0001583	missense	7011	exon22			TCCGACGTGCGGC		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.3163C>T	14.37:g.20852817G>A	ENSP00000262715:p.Arg1055Cys	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	119	118	0.991597	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	1256	0.575091575091575	363	0.7378048780487805	203	0.5607734806629834	344	0.6013986013986014	346	0.45646437994722955	A	7.330	0.618750	0.14129	0.738992	0.454651	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.18960	2.18;2.18	5.2	3.21	0.36854	.	1.280850	0.04811	N	0.435261	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;D;B	0.60160	0.0;0.987;0.0	B;P;B	0.47705	0.0;0.555;0.0	T	0.41627	-0.9498	9	0.54805	T	0.06	-0.0704	8.3593	0.32348	0.081:0.121:0.6866:0.1114	rs1760903;rs2228028;rs52837188;rs60187020;rs1760903	947;405;1055	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	C	1055;1055;947	ENSP00000262715:R1055C;ENSP00000452574:R947C	ENSP00000262715:R1055C	R	-	1	0	TEP1	19922657	0.034000	0.19679	0.037000	0.18230	0.807000	0.45602	1.437000	0.34991	0.576000	0.29452	-1.197000	0.01672	CGT	G|0.428;A|0.572	0.572	strong		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20852817	G	A	20852817	3	1	22	1	0	0	0	0	1	0	0	0	15756	1145	40	1	4856	1	TEP1	14	20852817	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	550	20852817	86496723	7275	12383										
TEP1	7011	hgsc.bcm.edu	37	chr14	20864049	20864049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgagcctcgagggcatcAatggcatcatgggcgttaag	14	8	2	1	rs2228026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20864049A>G	ENST00000262715.5	-	11	1759	c.1719T>C	c.(1717-1719)atT>atC	p.I573I	TEP1_ENST00000556935.1_Silent_p.I465I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	573	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				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)		CGAGGGCATCAATGGCATCAT	0.498													A|||	149	0.0297524	0.003	0.0274	5008	,	,		18256	0.0		0.0557	False		,,,				2504	0.0716				p.I573I		Atlas-SNP	.											.	TEP1	224	.	0			c.T1719C						PASS	.	A		46,4360	47.5+/-82.1	0,46,2157	131	127	128		1719	1.5	0.2	14	dbSNP_98	128	474,8126	139.8+/-196.4	19,436,3845	no	coding-synonymous	TEP1	NM_007110.4		19,482,6002	GG,GA,AA		5.5116,1.044,3.9982		573/2628	20864049	520,12486	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon11			GGCATCAATGGCA		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.1719T>C	14.37:g.20864049A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	127	66	0.519685	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			A|0.963;G|0.037	0.037	strong		0.498	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20864049	A	G	20864049	2	3	22	1	0	0	0	0	0	0	0	1	15756	126	5	2		2	TEP1	14	20864049	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11232	20864049	86485491	7276	12384										
TEP1	7011	hgsc.bcm.edu	37	chr14	20873695	20873695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtcagatgtattgttcAtgtttacttctgagaccaga	11	6	3	3	rs148090256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20873695A>G	ENST00000262715.5	-	4	825	c.785T>C	c.(784-786)aTg>aCg	p.M262T	TEP1_ENST00000556935.1_Missense_Mutation_p.M262T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	262	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				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)		TGTATTGTTCATGTTTACTTC	0.463													A|||	33	0.00658946	0.0234	0.0029	5008	,	,		21319	0.0		0.0	False		,,,				2504	0.0				p.M262T		Atlas-SNP	.											TEP1,caecum,carcinoma,0,1	TEP1	224	1	0			c.T785C						PASS	.	A	THR/MET	82,4324	70.3+/-108.2	0,82,2121	116	111	113		785	-2	0	14	dbSNP_134	113	0,8600		0,0,4300	yes	missense	TEP1	NM_007110.4	81	0,82,6421	GG,GA,AA		0.0,1.8611,0.6305	benign	262/2628	20873695	82,12924	2203	4300	6503	SO:0001583	missense	7011	exon4			TTGTTCATGTTTA		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.785T>C	14.37:g.20873695A>G	ENSP00000262715:p.Met262Thr	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	A	5.089	0.202155	0.09652	0.018611	0.0	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.14144	2.53;2.53	4.07	-1.99	0.07457	TROVE (2);	2.107970	0.01669	N	0.025498	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32534	-0.9903	10	0.49607	T	0.09	15.064	5.3797	0.16183	0.594:0.1384:0.2676:0.0	.	262;262	G3V5X7;Q99973	.;TEP1_HUMAN	T	262	ENSP00000262715:M262T;ENSP00000452574:M262T	ENSP00000262715:M262T	M	-	2	0	TEP1	19943535	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.762000	0.04745	-0.429000	0.07329	0.533000	0.62120	ATG	A|0.994;G|0.006	0.006	strong		0.463	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20873695	A	G	20873695	3	3	22	1	0	0	0	0	1	0	0	0	15756	217	8	2	7306	2	TEP1	14	20873695	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9646	20873695	86475845	7277	12385										
TEP1	7011	hgsc.bcm.edu	37	chr14	20876253	20876253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtgctctttagactagAgagggtggccaggcaccggt	14	10	1	2	rs1760897	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:20876253A>G	ENST00000262715.5	-	2	386	c.346T>C	c.(346-348)Tct>Cct	p.S116P	TEP1_ENST00000556935.1_Missense_Mutation_p.S116P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	116			S -> P (in dbSNP:rs1760897). {ECO:0000269|PubMed:9020079}.		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)		TTTAGACTAGAGAGGGTGGCC	0.517													G|||	1799	0.359225	0.5439	0.3012	5008	,	,		23338	0.1825		0.3211	False		,,,				2504	0.3722				p.S116P		Atlas-SNP	.											.	TEP1	224	.	0			c.T346C						PASS	.	G	PRO/SER	2249,2157	581.0+/-385.3	566,1117,520	107	109	109		346	-0.6	0	14	dbSNP_89	109	2731,5869	681.9+/-403.8	446,1839,2015	yes	missense	TEP1	NM_007110.4	74	1012,2956,2535	GG,GA,AA		31.7558,48.956,38.29	benign	116/2628	20876253	4980,8026	2203	4300	6503	SO:0001583	missense	7011	exon2			GACTAGAGAGGGT		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.346T>C	14.37:g.20876253A>G	ENSP00000262715:p.Ser116Pro	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	183	84	0.459016	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	742	0.33974358974358976	262	0.532520325203252	115	0.31767955801104975	113	0.19755244755244755	252	0.3324538258575198	G	0.010	-1.778725	0.00634	0.51044	0.317558	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.26223	1.75;1.75;1.75	5.08	-0.634	0.11516	.	0.736857	0.12656	N	0.450073	T	0.00012	0.0000	N	0.01168	-0.975	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43245	-0.9403	9	0.02654	T	1	-4.0792	3.387	0.07276	0.2777:0.0:0.2821:0.4401	rs1760897;rs3748335;rs52804943;rs61199362;rs1760897	116;116	G3V5X7;Q99973	.;TEP1_HUMAN	P	116	ENSP00000262715:S116P;ENSP00000452574:S116P;ENSP00000452240:S116P	ENSP00000262715:S116P	S	-	1	0	TEP1	19946093	0.000000	0.05858	0.007000	0.13788	0.327000	0.28475	-0.657000	0.05335	-0.134000	0.11516	-0.755000	0.03482	TCT	A|0.635;G|0.365	0.365	strong		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20876253	A	G	20876253	3	3	22	1	0	0	0	0	1	0	0	0	15756	304	11	3	7753	3	TEP1	14	20876253	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2558	20876253	86473287	7278	12386										
RNASE11	122651	hgsc.bcm.edu	37	chr14	21052259	21052259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaccctgcgcatcacttcTgtggagctgcggatgaagtt	13	10	2	1	rs1429539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21052259T>C	ENST00000610205.1	-	3	558	c.375A>G	c.(373-375)acA>acG	p.T125T	RNASE11_ENST00000553849.1_Silent_p.T125T|RNASE11_ENST00000398008.2_Silent_p.T125T|RNASE11_ENST00000432835.2_Silent_p.T125T|RNASE11_ENST00000398009.2_Silent_p.T125T|RNASE11_ENST00000555841.1_Silent_p.T125T	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	125						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GCATCACTTCTGTGGAGCTGC	0.493													C|||	1842	0.367812	0.5484	0.2723	5008	,	,		21015	0.1905		0.3539	False		,,,				2504	0.3885				p.T125T		Atlas-SNP	.											.	RNASE11	44	.	0			c.A375G						PASS	.	C		2223,2183	585.8+/-386.3	575,1073,555	86	74	78		375	-1.9	0	14	dbSNP_88	78	3189,5411	653.4+/-401.0	604,1981,1715	no	coding-synonymous	RNASE11	NM_145250.3		1179,3054,2270	CC,CT,TT		37.0814,49.5461,41.6116		125/200	21052259	5412,7594	2203	4300	6503	SO:0001819	synonymous_variant	122651	exon3			CACTTCTGTGGAG	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.375A>G	14.37:g.21052259T>C		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	230	228	0.991304	NM_145250		Silent	SNP	ENST00000610205.1	37	CCDS9553.1																																																																																			T|0.613;C|0.387	0.387	strong		0.493	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		C	21052259	T	C	21052259	2	2	22	1	0	0	0	0	0	0	0	1	13401	1567	55	3		3	RNASE11	14	21052259	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	176006	21052259	86297281	7279	12387										
RNASE4	6038	hgsc.bcm.edu	37	chr14	21167837	21167837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgaactgccatgagggtGtagtgaaggtcacagattgc	14	6	1	5	rs59543367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21167837G>A	ENST00000555835.1	+	2	983	c.307G>A	c.(307-309)Gta>Ata	p.V103I	RNASE4_ENST00000304704.4_Missense_Mutation_p.V103I|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000397995.2_Missense_Mutation_p.V103I|RNASE4_ENST00000555597.1_Missense_Mutation_p.V103I	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	103					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CCATGAGGGTGTAGTGAAGGT	0.493													G|||	22	0.00439297	0.0151	0.0029	5008	,	,		22587	0.0		0.0	False		,,,				2504	0.0				p.V103I	Esophageal Squamous(59;1059 1362 26290 51151)	Atlas-SNP	.											.	RNASE4	18	.	0			c.G307A						PASS	.	G	ILE/VAL,ILE/VAL	58,4348	57.4+/-93.9	0,58,2145	154	127	136		307,307	2.9	1	14	dbSNP_129	136	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	RNASE4	NM_002937.3,NM_194431.1	29,29	0,61,6442	AA,AG,GG		0.0349,1.3164,0.469	benign,benign	103/148,103/148	21167837	61,12945	2203	4300	6503	SO:0001583	missense	6038	exon2			GAGGGTGTAGTGA	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"Ribonucleases, RNase A"	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.307G>A	14.37:g.21167837G>A	ENSP00000452245:p.Val103Ile	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	30	22	0.733333	NM_002937		Missense_Mutation	SNP	ENST00000555835.1	37	CCDS9555.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	15.78	2.935052	0.52866	0.013164	3.49E-4	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.8	2.92	0.33932	Ribonuclease A, domain (4);	0.325719	0.26453	N	0.024288	T	0.39572	0.1083	L	0.29908	0.895	0.28449	N	0.916432	B	0.06786	0.001	B	0.11329	0.006	T	0.47711	-0.9096	10	0.52906	T	0.07	-2.5954	8.6786	0.34194	0.2536:0.0:0.7464:0.0	rs59543367	103	P34096	RNAS4_HUMAN	I	103	ENSP00000452245:V103I;ENSP00000381081:V103I;ENSP00000451624:V103I;ENSP00000381087:V103I;ENSP00000307096:V103I;ENSP00000381085:V103I	ENSP00000307096:V103I	V	+	1	0	AL163636.2;RNASE4	20237677	0.769000	0.28531	0.998000	0.56505	0.957000	0.61999	1.259000	0.32956	0.886000	0.36113	0.650000	0.86243	GTA	G|0.994;A|0.006	0.006	strong		0.493	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			A	21167837	G	A	21167837	3	1	22	1	0	0	0	0	1	0	0	0	13406	1377	48	2	309	2	RNASE4	14	21167837	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115578	21167837	86181703	7280	12388										
FLJ10357	55701	hgsc.bcm.edu	37	chr14	21546354	21546354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagtggtaaggctatgtCgcctgtgccaaggtgtgctg	16	7	0	0	rs61744857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21546354C>T	ENST00000298694.4	+	9	2180	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R685C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	685						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AAGGCTATGTCGCCTGTGCCA	0.562													C|||	301	0.0601038	0.1218	0.0447	5008	,	,		20293	0.0526		0.0437	False		,,,				2504	0.0123				p.R685C		Atlas-SNP	.											ARHGEF40_ENST00000298694,NS,carcinoma,-1,1	ARHGEF40	84	1	0			c.C2053T						PASS	.	C	CYS/ARG	431,3975	209.5+/-230.2	23,385,1795	74	67	70		2053	3	0.4	14	dbSNP_129	70	386,8214	125.8+/-184.4	6,374,3920	yes	missense	ARHGEF40	NM_018071.3	180	29,759,5715	TT,TC,CC		4.4884,9.7821,6.2817	possibly-damaging	685/1520	21546354	817,12189	2203	4300	6503	SO:0001583	missense	55701	exon9			CTATGTCGCCTGT		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2053C>T	14.37:g.21546354C>T	ENSP00000298694:p.Arg685Cys	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	99	58	0.585859	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	132	0.06043956043956044	61	0.12398373983739837	14	0.03867403314917127	26	0.045454545454545456	31	0.040897097625329816	C	12.85	2.061252	0.36373	0.097821	0.044884	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02525	4.33;4.26	4.91	2.97	0.34412	.	1.299180	0.05059	N	0.479560	T	0.00039	0.0001	L	0.34521	1.04	0.80722	P	0.0	P	0.40931	0.733	B	0.28709	0.093	T	0.48536	-0.9027	9	0.66056	D	0.02	.	6.6462	0.22936	0.2581:0.584:0.1578:0.0	rs61744857	685	Q8TER5	ARH40_HUMAN	C	685	ENSP00000298694:R685C;ENSP00000298693:R685C	ENSP00000298693:R685C	R	+	1	0	ARHGEF40	20616194	0.001000	0.12720	0.425000	0.26659	0.960000	0.62799	0.193000	0.17116	0.573000	0.29400	0.558000	0.71614	CGC	C|0.939;T|0.061	0.061	strong		0.562	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			T	21546354	C	T	21546354	3	4	22	1	0	0	0	0	1	0	0	0	5926	884	31	1	2087	1	FLJ10357	14	21546354	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	378517	21546354	85803186	7281	12389										
OR5AU1	390445	hgsc.bcm.edu	37	chr14	21623489	21623489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaggacaggatgggtggCccatcacagaagaagtgagt	15	7	1	3	rs45462402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21623489C>T	ENST00000304418.3	-	1	733	c.696G>A	c.(694-696)ggG>ggA	p.G232G		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GGATGGGTGGCCCATCACAGA	0.478													T|||	2547	0.508586	0.7262	0.389	5008	,	,		22675	0.6607		0.2087	False		,,,				2504	0.4509				p.G232G		Atlas-SNP	.											.	OR5AU1	46	.	0			c.G696A						PASS	.	T		2886,1520	479.2+/-358.4	951,984,268	83	73	77		696	1.7	1	14	dbSNP_127	77	1618,6982	742.1+/-407.2	145,1328,2827	no	coding-synonymous	OR5AU1	NM_001004731.1		1096,2312,3095	TT,TC,CC		18.814,34.4984,34.6302		232/363	21623489	4504,8502	2203	4300	6503	SO:0001819	synonymous_variant	390445	exon1			GGGTGGCCCATCA	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.696G>A	14.37:g.21623489C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_001004731	B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	CCDS32042.1																																																																																			C|0.637;T|0.363	0.363	strong		0.478	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			T	21623489	C	T	21623489	2	4	22	1	0	0	0	0	0	0	0	1	11147	726	26	2		2	OR5AU1	14	21623489	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77135	21623489	85726051	7282	12390										
RPGRIP1	57096	hgsc.bcm.edu	37	chr14	21769193	21769193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcgcggaggaggcggcgcCgctctcggagaccgcaaggc	19	13	1	1	rs1040904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21769193C>A	ENST00000400017.2	+	3	287	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P96Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P96Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P96Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	96			P -> Q (in dbSNP:rs1040904). {ECO:0000269|PubMed:18682808}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGGCGGCGCCGCTCTCGGAG	0.682													c|||	292	0.0583067	0.0454	0.1758	5008	,	,		11488	0.0317		0.0467	False		,,,				2504	0.0317				p.P96Q		Atlas-SNP	.											.	RPGRIP1	213	.	0			c.C287A						PASS	.	C	GLN/PRO	204,3608		3,198,1705	27	32	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	287	-0.4	0	14	dbSNP_86	31	317,7815		5,307,3754	no	missense	RPGRIP1	NM_020366.3	76	8,505,5459	AA,AC,CC		3.8982,5.3515,4.362	benign	96/1287	21769193	521,11423	1906	4066	5972	SO:0001583	missense	57096	exon3			CGGCGCCGCTCTC	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.287C>A	14.37:g.21769193C>A	ENSP00000382895:p.Pro96Gln	Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	17	13	0.764706	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	133	0.060897435897435896	28	0.056910569105691054	55	0.15193370165745856	15	0.026223776223776224	35	0.04617414248021108	c	0.034	-1.318046	0.01320	0.053515	0.038982	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	3.71	-0.434	0.12283	.	2.645290	0.01490	N	0.017026	T	0.00073	0.0002	N	0.03115	-0.41	0.58432	P	5.999999999950489E-6	B	0.13145	0.007	B	0.04013	0.001	T	0.13980	-1.0489	9	0.02654	T	1	11.8105	4.5263	0.11983	0.4152:0.3946:0.0:0.1902	rs1040904	96	Q96KN7	RPGR1_HUMAN	Q	96	ENSP00000450445:P96Q;ENSP00000451219:P96Q;ENSP00000382895:P96Q;ENSP00000206660:P96Q	ENSP00000206660:P96Q	P	+	2	0	RPGRIP1	20839033	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.445000	0.21677	-0.161000	0.10983	-0.556000	0.04195	CCG	C|0.941;A|0.059	0.059	strong		0.682	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21769193	C	A	21769193	3	1	22	1	0	0	0	0	1	0	0	0	13549	652	23	4	297	4	RPGRIP1	14	21769193	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145704	21769193	85580347	7283	12391										
SUPT16H	11198	hgsc.bcm.edu	37	chr14	21841524	21841524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagttgatttggcataaacAatttcttcatcaacacccac	5	11	3	1	rs75576875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21841524A>G	ENST00000216297.2	-	2	470	c.132T>C	c.(130-132)atT>atC	p.I44I		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	44					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGCATAAACAATTTCTTCAT	0.378													A|||	80	0.0159744	0.059	0.0029	5008	,	,		18715	0.0		0.0	False		,,,				2504	0.0				p.I44I		Atlas-SNP	.											.	SUPT16H	84	.	0			c.T132C						PASS	.	A		224,4182	134.9+/-171.1	5,214,1984	179	159	166		132	1.9	1	14	dbSNP_132	166	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous	SUPT16H	NM_007192.3		5,214,6284	GG,GA,AA		0.0,5.084,1.7223		44/1048	21841524	224,12782	2203	4300	6503	SO:0001819	synonymous_variant	11198	exon2			ATAAACAATTTCT	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.132T>C	14.37:g.21841524A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	170	84	0.494118	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																			A|0.985;G|0.015	0.015	strong		0.378	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			G	21841524	A	G	21841524	2	3	22	1	0	0	0	0	0	0	0	1	15393	126	5	2		2	SUPT16H	14	21841524	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72331	21841524	85508016	7284	12392										
METTL3	56339	hgsc.bcm.edu	37	chr14	21967916	21967916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accactacttacccccagagAtttagacattctctccccaa	3	16	1	2	rs1139130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:21967916A>G	ENST00000298717.4	-	7	1486	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	445					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACCCCCAGAGATTTAGACATT	0.388													G|||	2564	0.511981	0.5749	0.6282	5008	,	,		19002	0.3542		0.5	False		,,,				2504	0.5194				p.N445N		Atlas-SNP	.											.	METTL3	48	.	0			c.T1335C						PASS	.	G		2340,2066	570.8+/-382.9	614,1112,477	162	150	154		1335	1	1	14	dbSNP_86	154	4327,4273	575.6+/-390.3	1130,2067,1103	no	coding-synonymous	METTL3	NM_019852.3		1744,3179,1580	GG,GA,AA		49.686,46.8906,48.739		445/581	21967916	6667,6339	2203	4300	6503	SO:0001819	synonymous_variant	56339	exon7			CCAGAGATTTAGA	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1335T>C	14.37:g.21967916A>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_019852	O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	CCDS32044.1																																																																																			A|0.488;G|0.512	0.512	strong		0.388	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		G	21967916	A	G	21967916	2	3	22	1	0	0	0	0	0	0	0	1	9501	330	12	2		2	METTL3	14	21967916	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126392	21967916	85381624	7285	12393										
OR10G3	26533	hgsc.bcm.edu	37	chr14	22038162	22038162	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctccacaagttgaaaaAgcccggcgccgcccatcagc	11	15	1	1	rs17197261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:22038162A>C	ENST00000303532.1	-	1	713	c.714T>G	c.(712-714)gcT>gcG	p.A238A		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AAGTTGAAAAAGCCCGGCGCC	0.567													A|||	420	0.0838658	0.0091	0.2882	5008	,	,		17272	0.0407		0.1153	False		,,,				2504	0.0521				p.A238A		Atlas-SNP	.											.	OR10G3	40	.	0			c.T714G						PASS	.	A		124,4282	92.0+/-130.7	0,124,2079	74	83	80		714	-0.6	1	14	dbSNP_123	80	1113,7487	231.9+/-265.7	66,981,3253	no	coding-synonymous	OR10G3	NM_001005465.1		66,1105,5332	CC,CA,AA		12.9419,2.8143,9.511		238/314	22038162	1237,11769	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			TGAAAAAGCCCGG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.714T>G	14.37:g.22038162A>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	173	81	0.468208	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			A|0.916;C|0.084	0.084	strong		0.567	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			C	22038162	A	C	22038162	2	2	22	1	0	0	0	0	0	0	0	1	10900	59	3	5		5	OR10G3	14	22038162	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	70246	22038162	85311378	7286	12394										
OR10G3	26533	hgsc.bcm.edu	37	chr14	22038525	22038525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctgtcataggccattagGgtgtagaggaagcactgggt	14	7	1	1	rs11626693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:22038525G>T	ENST00000303532.1	-	1	350	c.351C>A	c.(349-351)acC>acA	p.T117T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGCCATTAGGGTGTAGAGGA	0.527													G|||	1822	0.363818	0.5371	0.2277	5008	,	,		21719	0.2966		0.3072	False		,,,				2504	0.3538				p.T117T		Atlas-SNP	.											.	OR10G3	40	.	0			c.C351A						PASS	.	G		2158,2248	583.6+/-385.9	549,1060,594	58	56	56		351	-3.3	0.1	14	dbSNP_120	56	2429,6171	401.1+/-347.0	347,1735,2218	no	coding-synonymous	OR10G3	NM_001005465.1		896,2795,2812	TT,TG,GG		28.2442,48.9787,35.2683		117/314	22038525	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			CATTAGGGTGTAG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.351C>A	14.37:g.22038525G>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			G|0.656;T|0.344	0.344	strong		0.527	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			T	22038525	G	T	22038525	2	4	22	1	0	0	0	0	0	0	0	1	10900	1219	43	4		4	OR10G3	14	22038525	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	363	22038525	85311015	7287	12395										
OR10G2	26534	hgsc.bcm.edu	37	chr14	22102315	22102315	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgtatcttcaggatggcAtggactatgttggcatagga	14	6	2	0	rs61753931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:22102315A>G	ENST00000542433.1	-	1	781	c.684T>C	c.(682-684)caT>caC	p.H228H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCAGGATGGCATGGACTATGT	0.532													.|||	70	0.0139776	0.053	0.0	5008	,	,		17587	0.0		0.0	False		,,,				2504	0.0				p.H228H		Atlas-SNP	.											.	OR10G2	35	.	0			c.T684C						PASS	.	A		210,4082		33,144,1969	52	52	52		684	-1.2	0.9	14	dbSNP_129	52	4,8380		1,2,4189	no	coding-synonymous	OR10G2	NM_001005466.1		34,146,6158	GG,GA,AA		0.0477,4.8928,1.6882		228/311	22102315	214,12462	2146	4192	6338	SO:0001819	synonymous_variant	26534	exon1			GATGGCATGGACT		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.684T>C	14.37:g.22102315A>G		Somatic	375	0	0		WXS	Illumina HiSeq	Phase_I	356	173	0.485955	NM_001005466	B2RPD0	Silent	SNP	ENST00000542433.1	37	CCDS32047.1																																																																																			A|0.983;G|0.017	0.017	strong		0.532	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			G	22102315	A	G	22102315	2	3	22	1	0	0	0	0	0	0	0	1	10899	214	8	2		2	OR10G2	14	22102315	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63790	22102315	85247225	7288	12396										
OR4E2	26686	hgsc.bcm.edu	37	chr14	22133416	22133416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttatatgctaacgctttcAgggaacattctcatcatcat	5	9	4	0	rs12717305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:22133416A>G	ENST00000408935.1	+	1	120	c.120A>G	c.(118-120)tcA>tcG	p.S40S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TAACGCTTTCAGGGAACATTC	0.433													a|||	2360	0.471246	0.6263	0.5317	5008	,	,		21121	0.3641		0.494	False		,,,				2504	0.3057				p.S40S		Atlas-SNP	.											.	OR4E2	44	.	0			c.A120G						PASS	.	A		2404,1558		727,950,304	255	245	248		120	0.8	0.8	14	dbSNP_121	248	4129,4205		1048,2033,1086	no	coding-synonymous	OR4E2	NM_001001912.1		1775,2983,1390	GG,GA,AA		49.544,39.3236,46.8689		40/314	22133416	6533,5763	1981	4167	6148	SO:0001819	synonymous_variant	26686	exon1			GCTTTCAGGGAAC		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.120A>G	14.37:g.22133416A>G		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_001001912	Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																			A|0.520;G|0.480	0.480	strong		0.433	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			G	22133416	A	G	22133416	2	3	22	1	0	0	0	0	0	0	0	1	11060	175	7	3		3	OR4E2	14	22133416	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31101	22133416	85216124	7289	12397										
OR4E2	26686	hgsc.bcm.edu	37	chr14	22134018	22134018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagccctgtctacctgctCggcccacttcatggtggttg	11	13	2	0	rs61732411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:22134018C>T	ENST00000408935.1	+	1	722	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTACCTGCTCGGCCCACTTC	0.527													C|||	699	0.139577	0.2526	0.1628	5008	,	,		21318	0.005		0.2038	False		,,,				2504	0.0429				p.S241L		Atlas-SNP	.											OR4E2,NS,carcinoma,-1,1	OR4E2	44	1	0			c.C722T						scavenged	.	C	LEU/SER	921,2999		109,703,1148	96	93	94		722	4.8	1	14	dbSNP_129	94	1719,6581		190,1339,2621	yes	missense	OR4E2	NM_001001912.1	145	299,2042,3769	TT,TC,CC		20.7108,23.4949,21.6039	benign	241/314	22134018	2640,9580	1960	4150	6110	SO:0001583	missense	26686	exon1			CCTGCTCGGCCCA		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.722C>T	14.37:g.22134018C>T	ENSP00000386195:p.Ser241Leu	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	232	109	0.469828	NM_001001912	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	CCDS41916.1	311	0.1423992673992674	106	0.21544715447154472	59	0.16298342541436464	2	0.0034965034965034965	144	0.18997361477572558	C	12.41	1.928415	0.34002	0.234949	0.207108	ENSG00000221977	ENST00000408935	T	0.35789	1.29	5.68	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.255127	0.19259	U	0.118721	T	0.00012	0.0000	L	0.59967	1.855	0.39721	P	0.02852600000000005	P	0.35363	0.497	B	0.33254	0.16	T	0.10474	-1.0628	9	0.54805	T	0.06	.	13.0304	0.58839	0.0:0.9212:0.0:0.0788	rs61732411	241	Q8NGC2	OR4E2_HUMAN	L	241	ENSP00000386195:S241L	ENSP00000386195:S241L	S	+	2	0	OR4E2	21203858	0.000000	0.05858	0.997000	0.53966	0.487000	0.33371	0.099000	0.15210	1.534000	0.49203	0.655000	0.94253	TCG	C|0.830;T|0.170	0.170	strong		0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22134018	C	T	22134018	3	4	22	1	0	0	0	0	1	0	0	0	11060	893	31	1	724	1	OR4E2	14	22134018	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	602	22134018	85215522	7290	12398										
DAD1	1603	hgsc.bcm.edu	37	chr14	23044004	23044004	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagtaaatgagaatgagtCagccaacaaagttcatgaca	8	6	2	3	rs386775535|rs1051154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23044004C>T	ENST00000250498.4	-	2	452	c.341G>A	c.(340-342)tGa>tAa	p.*114*	DAD1_ENST00000538631.1_Intron|DAD1_ENST00000543337.1_Silent_p.*86*|DAD1_ENST00000489532.2_5'Flank	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	0					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GAGAATGAGTCAGCCAACAAA	0.408													C|||	460	0.091853	0.2731	0.036	5008	,	,		19696	0.001		0.0537	False		,,,				2504	0.0194				p.X114X		Atlas-SNP	.											.	DAD1	8	.	0			c.G341A						PASS	.	C		1007,3399	374.2+/-321.1	101,805,1297	133	130	131		341	5.7	1	14	dbSNP_86	131	390,8210	125.0+/-183.6	8,374,3918	no	coding-synonymous	DAD1	NM_001344.2		109,1179,5215	TT,TC,CC		4.5349,22.8552,10.7412		114/114	23044004	1397,11609	2203	4300	6503	SO:0001819	synonymous_variant	1603	exon2			ATGAGTCAGCCAA	AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"oligosaccharyltransferase 2 homolog (S. cerevisiae)", "oligosaccharyltransferase subunit 2 (non-catalytic)"	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.341G>A	14.37:g.23044004C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_001344	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Silent	SNP	ENST00000250498.4	37	CCDS9571.1																																																																																			C|0.901;T|0.099	0.099	strong		0.408	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344		T	23044004	C	T	23044004	2	4	22	1	0	0	0	0	0	0	0	1	4224	837	29	2		2	DAD1	14	23044004	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	909986	23044004	84305536	7291	12399										
MMP14	4323	hgsc.bcm.edu	37	chr14	23312923	23312923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttttctgccccagggggTgagtcagggttccccaccaa	13	12	2	1	rs2236307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23312923T>C	ENST00000311852.6	+	6	1116	c.855T>C	c.(853-855)ggT>ggC	p.G285G	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	285					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCCCAGGGGGTGAGTCAGGGT	0.572													T|||	1360	0.271565	0.3313	0.1671	5008	,	,		16355	0.3562		0.2018	False		,,,				2504	0.2495				p.G285G		Atlas-SNP	.											.	MMP14	40	.	0			c.T855C						PASS	.	T		1343,3063	447.5+/-348.4	189,965,1049	100	111	108		855	0.8	0.8	14	dbSNP_98	108	1816,6784	326.7+/-317.5	197,1422,2681	no	coding-synonymous	MMP14	NM_004995.2		386,2387,3730	CC,CT,TT		21.1163,30.4812,24.2888		285/583	23312923	3159,9847	2203	4300	6503	SO:0001819	synonymous_variant	4323	exon6			AGGGGGTGAGTCA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.855T>C	14.37:g.23312923T>C		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	84	82	0.97619	NM_004995	A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	CCDS9577.1																																																																																			A|0.000;C|0.247;G|0.000;T|0.753	0.247	strong		0.572	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		C	23312923	T	C	23312923	2	2	22	1	0	0	0	0	0	0	0	1	9653	1683	59	2		2	MMP14	14	23312923	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	268919	23312923	84036617	7292	12400										
JUB	84962	hgsc.bcm.edu	37	chr14	23444247	23444247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgaaggggatgccatccaGgcacttgttgcaaacaatgc	12	9	0	1	rs10130692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23444247G>A	ENST00000262713.2	-	5	1681	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	AJUBA_ENST00000397388.3_Silent_p.L19L|AJUBA_ENST00000361265.4_Silent_p.L436L|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	436	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ATGCCATCCAGGCACTTGTTG	0.522													G|||	201	0.0401358	0.1452	0.0101	5008	,	,		22256	0.0		0.002	False		,,,				2504	0.0				p.L436L		Atlas-SNP	.											.	.	.	.	0			c.C1306T						PASS	.	G	,	552,3854	248.7+/-256.4	46,460,1697	150	138	142		1306,55	4.1	1	14	dbSNP_119	142	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous,coding-synonymous	JUB	NM_032876.4,NM_198086.1	,	46,473,5984	AA,AG,GG		0.1512,12.5284,4.3441	,	436/539,19/122	23444247	565,12441	2203	4300	6503	SO:0001819	synonymous_variant	84962	exon5			CATCCAGGCACTT	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1306C>T	14.37:g.23444247G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	81	49	0.604938	NM_032876	A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	CCDS9581.1																																																																																			G|0.955;A|0.045	0.045	strong		0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			A	23444247	G	A	23444247	2	1	22	1	0	0	0	0	0	0	0	1	7968	991	35	2		2	JUB	14	23444247	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131324	23444247	83905293	7293	12401										
ACIN1	22985	hgsc.bcm.edu	37	chr14	23549879	23549881	+	In_Frame_Del	DEL	TCC	TCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttcttcatcatcttctTcctcctcctcctcctcctct					rs3841035|rs57580458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23549879_23549881delTCC	ENST00000262710.1	-	6	1164_1166	c.837_839delGGA	c.(835-840)gaggaa>gaa	p.279_280EE>E	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_In_Frame_Del_p.279_280EE>E|ACIN1_ENST00000605057.1_In_Frame_Del_p.221_222EE>E|ACIN1_ENST00000457657.1_In_Frame_Del_p.239_240EE>E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	279	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		atcatcttcttcctcctcctcct	0.458														537	0.107228	0.1475	0.0576	5008	,	,		22843	0.2073		0.0497	False		,,,				2504	0.044				p.280_280del		Pindel	.											.	ACIN1	147	.	0			c.838_840del						PASS	.																																			SO:0001651	inframe_deletion	22985	exon6			.	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.837_839delGGA	14.37:g.23549888_23549890delTCC	ENSP00000262710:p.Glu281del	Somatic	150	.	.		WXS	Illumina HiSeq	Phase_I	172	29	0.169	NM_014977	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	In_Frame_Del	DEL	ENST00000262710.1	37	CCDS9587.1																																																																																			.	.	strong		0.458	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		-	23549881	TCC	-	23549879	7	5	22	1	0	1	0	1	0	0	0	0	142	1783	62	0	3389	0	ACIN1	14	23549879	In_Frame_Del	DEL	TCC	TCGA-G8-6324-01A-11D-2210-10	105632	23549879	83799661	7294	12402										
ACIN1	22985	hgsc.bcm.edu	37	chr14	23549948	23549948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctctgacccttaggtttCtggaaggtgtttcttgatcc	10	10	3	2	rs11555803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23549948C>T	ENST00000262710.1	-	6	1097	c.770G>A	c.(769-771)aGa>aAa	p.R257K	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.R257K|ACIN1_ENST00000605057.1_Missense_Mutation_p.R199K|ACIN1_ENST00000457657.1_Missense_Mutation_p.R217K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	257	Glu-rich.		R -> K (in dbSNP:rs11555803).		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTTAGGTTTCTGGAAGGTGT	0.473													C|||	114	0.0227636	0.0825	0.0072	5008	,	,		20266	0.0		0.0	False		,,,				2504	0.0				p.R257K		Atlas-SNP	.											.	ACIN1	147	.	0			c.G770A						PASS	.	C	LYS/ARG,LYS/ARG,LYS/ARG	356,4050	183.6+/-211.2	16,324,1863	175	179	178		770,650,770	5.5	1	14	dbSNP_120	178	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	26,26,26	16,332,6155	TT,TC,CC		0.093,8.0799,2.7987	probably-damaging,probably-damaging,probably-damaging	257/1329,217/1302,257/1342	23549948	364,12642	2203	4300	6503	SO:0001583	missense	22985	exon6			AGGTTTCTGGAAG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.770G>A	14.37:g.23549948C>T	ENSP00000262710:p.Arg257Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	92	48	0.521739	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	39	0.017857142857142856	38	0.07723577235772358	1	0.0027624309392265192	0	0.0	0	0.0	C	22.9	4.351242	0.82132	0.080799	9.3E-4	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.27890	2.05;1.64;2.04	5.47	5.47	0.80525	.	0.000000	0.43260	D	0.000591	T	0.03178	0.0093	L	0.43152	1.355	0.38624	D	0.951213	D;P	0.53312	0.959;0.932	D;P	0.65684	0.937;0.867	T	0.01039	-1.1472	10	0.17832	T	0.49	-10.3899	14.8326	0.70159	0.0:1.0:0.0:0.0	rs11555803;rs52803485;rs11555803	257;257	G3V3M7;Q9UKV3	.;ACINU_HUMAN	K	257;217;257	ENSP00000262710:R257K;ENSP00000405677:R217K;ENSP00000451328:R257K	ENSP00000262710:R257K	R	-	2	0	ACIN1	22619788	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.549000	0.53681	2.569000	0.86673	0.650000	0.86243	AGA	C|0.971;T|0.029	0.029	strong		0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23549948	C	T	23549948	3	4	22	1	0	0	0	0	1	0	0	0	142	913	32	2	3458	2	ACIN1	14	23549948	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69	23549948	83799592	7295	12403										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000561013.1_Silent_p.E538E|HOMEZ_ENST00000431326.2_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	112	16	0.142857	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	22	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	194881	23744829	83604711	7296	12404										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744844	23744844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcctcctcctcctcctcCtcttcctcatcatcttctgg	2	20	6	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23744844C>T	ENST00000357460.5	-	2	1757	c.1593G>A	c.(1591-1593)gaG>gaA	p.E531E	HOMEZ_ENST00000561013.1_Silent_p.E533E|HOMEZ_ENST00000431326.2_Silent_p.E533E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	531	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcctcttcctcat	0.493																																					p.E531E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1593A						PASS	.						37	36	36					14																	23744844		2196	4286	6482	SO:0001819	synonymous_variant	57594	exon2			CTCCTCCTCTTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1593G>A	14.37:g.23744844C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	114	7	0.0614035	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	none		0.493	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744844	C	T	23744844	2	4	22	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744844	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	23744844	83604696	7297	12405										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23745723	23745723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacctatgccatgtgactgGttgggacccctgcctgcctg	12	13	0	1	rs11844797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23745723G>A	ENST00000357460.5	-	2	878	c.714C>T	c.(712-714)aaC>aaT	p.N238N	HOMEZ_ENST00000561013.1_Silent_p.N240N|HOMEZ_ENST00000431326.2_Silent_p.N240N	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTGACTGGTTGGGACCCC	0.532													G|||	250	0.0499201	0.1853	0.0072	5008	,	,		18809	0.0		0.0	False		,,,				2504	0.0				p.N238N		Atlas-SNP	.											.	HOMEZ	80	.	0			c.C714T						PASS	.	G		638,3510		52,534,1488	76	79	78		714	2.2	0	14	dbSNP_120	78	12,8408		1,10,4199	no	coding-synonymous	HOMEZ	NM_020834.2		53,544,5687	AA,AG,GG		0.1425,15.3809,5.1719		238/551	23745723	650,11918	2074	4210	6284	SO:0001819	synonymous_variant	57594	exon2			TGACTGGTTGGGA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.714C>T	14.37:g.23745723G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	134	67	0.5	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			G|0.948;A|0.052	0.052	strong		0.532	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		A	23745723	G	A	23745723	2	1	22	1	0	0	0	0	0	0	0	1	7281	1252	44	2		2	HOMEZ	14	23745723	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	879	23745723	83603817	7298	12406										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23746269	23746269	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactggtctgggctgcttgCgtccacacaagctgtagctc	11	13	2	0	rs1057119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23746269C>G	ENST00000357460.5	-	2	332	c.168G>C	c.(166-168)acG>acC	p.T56T	HOMEZ_ENST00000561013.1_Silent_p.T58T|HOMEZ_ENST00000431326.2_Silent_p.T58T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGCTGCTTGCGTCCACACAA	0.552													G|||	914	0.182508	0.1059	0.2104	5008	,	,		18237	0.1766		0.2624	False		,,,				2504	0.1902				p.T56T		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G168C						PASS	.	G		488,3634		31,426,1604	125	120	122		168	1	1	14	dbSNP_86	122	1820,6600		210,1400,2600	no	coding-synonymous	HOMEZ	NM_020834.2		241,1826,4204	GG,GC,CC		21.6152,11.8389,18.4022		56/551	23746269	2308,10234	2061	4210	6271	SO:0001819	synonymous_variant	57594	exon2			TGCTTGCGTCCAC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.168G>C	14.37:g.23746269C>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	181	88	0.486188	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			C|0.797;G|0.203	0.203	strong		0.552	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		G	23746269	C	G	23746269	2	3	22	1	0	0	0	0	0	0	0	1	7281	755	27	4		4	HOMEZ	14	23746269	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	546	23746269	83603271	7299	12407										
IL25	64806	hgsc.bcm.edu	37	chr14	23845061	23845061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgtttccttagcttgtgTgtgtgtgcggccccgtgtga	14	10	0	1	rs149802556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23845061T>C	ENST00000329715.2	+	2	764	c.506T>C	c.(505-507)gTg>gCg	p.V169A	IL25_ENST00000397242.2_Missense_Mutation_p.V153A|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	169					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTAGCTTGTGTGTGTGTGCGG	0.607																																					p.V169A		Atlas-SNP	.											.	IL25	21	.	0			c.T506C						PASS	.	T	ALA/VAL,ALA/VAL	2,4404	4.2+/-10.8	0,2,2201	150	137	141		506,458	4.6	1	14	dbSNP_134	141	0,8600		0,0,4300	no	missense,missense	IL25	NM_022789.3,NM_172314.1	64,64	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	probably-damaging,probably-damaging	169/178,153/162	23845061	2,13004	2203	4300	6503	SO:0001583	missense	64806	exon2			CTTGTGTGTGTGT	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.506T>C	14.37:g.23845061T>C	ENSP00000328111:p.Val169Ala	Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	262	105	0.400763	NM_022789	Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049273	0.75846	4.54E-4	0.0	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.55234	0.53;0.53	4.58	4.58	0.56647	.	0.145674	0.33023	N	0.005361	T	0.57636	0.2067	L	0.44542	1.39	0.30135	N	0.804464	P;D	0.64830	0.64;0.994	B;P	0.59056	0.334;0.851	T	0.58634	-0.7602	10	0.48119	T	0.1	-26.6522	10.2614	0.43430	0.0:0.0:0.0:1.0	.	169;153	Q9H293;Q9H293-2	IL25_HUMAN;.	A	153;169	ENSP00000380417:V153A;ENSP00000328111:V169A	ENSP00000328111:V169A	V	+	2	0	IL25	22914901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.712000	0.54875	1.947000	0.56498	0.459000	0.35465	GTG	T|1.000;C|0.000	0.000	strong		0.607	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			C	23845061	T	C	23845061	3	2	22	1	0	0	0	0	1	0	0	0	7678	1696	59	2	525	2	IL25	14	23845061	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	98792	23845061	83504479	7300	12408										
MYH6	4624	hgsc.bcm.edu	37	chr14	23861811	23861811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtagttgaagggccagcAcctgctcatcctcaatctta	8	12	4	1	rs365990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23861811A>G	ENST00000356287.3	-	24	3331	c.3302T>C	c.(3301-3303)gTg>gCg	p.V1101A	MYH6_ENST00000405093.3_Missense_Mutation_p.V1101A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1101			V -> A (in dbSNP:rs365990). {ECO:0000269|PubMed:1776652}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAGGGCCAGCACCTGCTCATC	0.502													G|||	1877	0.3748	0.6437	0.2925	5008	,	,		19097	0.1597		0.3489	False		,,,				2504	0.318				p.V1101A		Atlas-SNP	.											.	MYH6	274	.	0			c.T3302C						PASS	.	G	ALA/VAL	2712,1694	513.2+/-368.3	859,994,350	197	191	193	http://www.ncbi.nlm.nih.gov/pubmed?term	3302	4.7	1	14	dbSNP_80	193	3214,5386	652.0+/-400.9	613,1988,1699	yes	missense	MYH6	NM_002471.3	64	1472,2982,2049	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	37.3721,38.4476,45.5636	benign	1101/1940	23861811	5926,7080	2203	4300	6503	SO:0001583	missense	4624	exon25			GCCAGCACCTGCT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3302T>C	14.37:g.23861811A>G	ENSP00000348634:p.Val1101Ala	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	177	83	0.468927	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	786	0.3598901098901099	310	0.6300813008130082	123	0.3397790055248619	91	0.1590909090909091	262	0.34564643799472294	g	3.060	-0.193522	0.06259	0.615524	0.373721	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.75589	-0.95;-0.95	4.69	4.69	0.59074	Myosin tail (1);	.	.	.	.	T	0.00012	0.0000	N	0.01242	-0.935	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	8	0.02654	T	1	.	9.4753	0.38867	0.1653:0.0:0.8347:0.0	rs365990;rs2071633;rs17199121;rs52814774;rs59057410;rs365990	1101	P13533	MYH6_HUMAN	A	1101	ENSP00000386041:V1101A;ENSP00000348634:V1101A	ENSP00000348634:V1101A	V	-	2	0	MYH6	22931651	0.072000	0.21174	0.996000	0.52242	0.607000	0.37147	2.250000	0.43178	1.118000	0.41863	-0.374000	0.07098	GTG	A|0.576;G|0.424	0.424	strong		0.502	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23861811	A	G	23861811	3	3	22	1	0	0	0	0	1	0	0	0	10038	159	6	2	2577	2	MYH6	14	23861811	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16750	23861811	83487729	7301	12409										
MYH6	4624	hgsc.bcm.edu	37	chr14	23874507	23874507	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcactcctcttcttgccccGgtaggcggccaccacctcgg	9	19	3	0	rs2277473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23874507G>T	ENST00000356287.3	-	4	456	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	MYH6_ENST00000405093.3_Silent_p.R143R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	143	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCTTGCCCCGGTAGGCGGCC	0.612													G|||	389	0.0776757	0.0129	0.085	5008	,	,		18374	0.0675		0.1044	False		,,,				2504	0.1431				p.R143R		Atlas-SNP	.											.	MYH6	274	.	0			c.C427A						PASS	.	G		110,4296		1,108,2094	108	110	110		427	1.2	1	14	dbSNP_100	110	942,7658		54,834,3412	no	coding-synonymous	MYH6	NM_002471.3		55,942,5506	TT,TG,GG		10.9535,2.4966,8.0886		143/1940	23874507	1052,11954	2203	4300	6503	SO:0001819	synonymous_variant	4624	exon5			TGCCCCGGTAGGC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.427C>A	14.37:g.23874507G>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	188	100	0.531915	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			A|0.000;C|0.007	.	strong		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23874507	G	T	23874507	2	4	22	1	0	0	0	0	0	0	0	1	10038	1115	39	4		4	MYH6	14	23874507	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12696	23874507	83475033	7302	12410										
MYH6	4624	hgsc.bcm.edu	37	chr14	23874523	23874523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccggtaggcggccaccacCtcggcattgtacaccggcag	12	17	0	0	rs2277474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23874523C>T	ENST00000356287.3	-	4	440	c.411G>A	c.(409-411)gaG>gaA	p.E137E	MYH6_ENST00000405093.3_Silent_p.E137E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	137	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGGCCACCACCTCGGCATTGT	0.602													C|||	773	0.154353	0.1384	0.1513	5008	,	,		18207	0.0675		0.2485	False		,,,				2504	0.1708				p.E137E		Atlas-SNP	.											.	MYH6	274	.	0			c.G411A						PASS	.	C		728,3678		56,616,1531	92	96	95		411	1.5	1	14	dbSNP_100	95	2243,6357		300,1643,2357	no	coding-synonymous	MYH6	NM_002471.3		356,2259,3888	TT,TC,CC		26.0814,16.5229,22.8433		137/1940	23874523	2971,10035	2203	4300	6503	SO:0001819	synonymous_variant	4624	exon5			CACCACCTCGGCA	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.411G>A	14.37:g.23874523C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	177	93	0.525424	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			C|0.794;A|0.002	.	strong		0.602	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23874523	C	T	23874523	2	4	22	1	0	0	0	0	0	0	0	1	10038	680	24	2		2	MYH6	14	23874523	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16	23874523	83475017	7303	12411										
MYH7	4625	hgsc.bcm.edu	37	chr14	23892888	23892888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccttggtcagcttggcAatgatctcatccagcccagc	8	14	3	1	rs7157716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:23892888A>G	ENST00000355349.3	-	24	3129	c.2967T>C	c.(2965-2967)atT>atC	p.I989I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	989					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.I989I(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGCTTGGCAATGATCTCAT	0.542													G|||	1885	0.376398	0.7458	0.2334	5008	,	,		18292	0.1667		0.3111	False		,,,				2504	0.2618				p.I989I		Atlas-SNP	.											MYH7,NS,carcinoma,0,1	MYH7	349	1	1	Substitution - coding silent(1)	stomach(1)	c.T2967C						scavenged	.	G		3086,1320	444.3+/-347.3	1092,902,209	156	149	152		2967	-6.3	0.6	14	dbSNP_116	152	2828,5772	675.9+/-403.2	475,1878,1947	no	coding-synonymous	MYH7	NM_000257.2		1567,2780,2156	GG,GA,AA		32.8837,29.9591,45.4713		989/1936	23892888	5914,7092	2203	4300	6503	SO:0001819	synonymous_variant	4625	exon24			CTTGGCAATGATC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2967T>C	14.37:g.23892888A>G		Somatic	309	2	0.00647249		WXS	Illumina HiSeq	Phase_I	307	144	0.469055	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																			A|0.583;G|0.416	0.416	strong		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		G	23892888	A	G	23892888	2	3	22	1	0	0	0	0	0	0	0	1	10039	126	5	2		2	MYH7	14	23892888	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18365	23892888	83456652	7304	12412										
THTPA	79178	hgsc.bcm.edu	37	chr14	24026174	24026174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcaaatgtcctggagcaGcaggtgtcttaggaccccac	11	12	2	0	rs141465409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24026174G>T	ENST00000288014.6	+	1	944	c.208G>T	c.(208-210)Gca>Tca	p.A70S	RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.A70S|THTPA_ENST00000554789.1_Missense_Mutation_p.A70S|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.A70S|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.A70S			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	70	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		TCCTGGAGCAGCAGGTGTCTT	0.582													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18740	0.0		0.0	False		,,,				2504	0.0				p.A70S		Atlas-SNP	.											.	THTPA	11	.	0			c.G208T						PASS	.	G	SER/ALA,SER/ALA	5,4401	9.9+/-24.2	0,5,2198	84	71	75		208,208	-2	0	14	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	THTPA	NM_001126339.1,NM_024328.3	99,99	0,5,6498	TT,TG,GG		0.0,0.1135,0.0384	benign,benign	70/231,70/231	24026174	5,13001	2203	4300	6503	SO:0001583	missense	79178	exon2			GGAGCAGCAGGTG	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.208G>T	14.37:g.24026174G>T	ENSP00000288014:p.Ala70Ser	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	215	115	0.534884	NM_001256321	D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	CCDS32053.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.575	0.667592	0.14710	0.001135	0.0	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.91	-1.95	0.07548	CYTH domain (2);CYTH-like domain (1);	1.127190	0.06371	N	0.713610	T	0.24431	0.0592	L	0.41573	1.285	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.003	T	0.22452	-1.0216	10	0.05959	T	0.93	0.0017	1.2016	0.01886	0.2075:0.3314:0.2356:0.2254	.	70;70	G3V4J3;Q9BU02	.;THTPA_HUMAN	S	70	ENSP00000384580:A70S;ENSP00000288014:A70S;ENSP00000452281:A70S;ENSP00000451835:A70S;ENSP00000452465:A70S;ENSP00000450459:A70S	ENSP00000288014:A70S	A	+	1	0	THTPA	23096014	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-0.268000	0.08607	-0.725000	0.04901	0.655000	0.94253	GCA	G|0.999;T|0.001	0.001	strong		0.582	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			T	24026174	G	T	24026174	3	4	22	1	0	0	0	0	1	0	0	0	15878	971	34	4	210	4	THTPA	14	24026174	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133286	24026174	83323366	7305	12413										
AP1G2	8906	hgsc.bcm.edu	37	chr14	24033027	24033027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatcatggctcgcacattgGagctatttaccagagccagg	11	11	1	1	rs12897422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24033027G>A	ENST00000308724.5	-	11	1885	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.S377F	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	377	Essential for ubiquitin-binding.		S -> F (in dbSNP:rs12897422).		intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCGCACATTGGAGCTATTTAC	0.592													G|||	218	0.0435304	0.0061	0.0778	5008	,	,		19276	0.001		0.1372	False		,,,				2504	0.0174				p.S377F		Atlas-SNP	.											.	AP1G2	75	.	0			c.C1130T						PASS	.	G	PHE/SER	131,4275	93.4+/-132.2	4,123,2076	65	60	62		1130	4.7	1	14	dbSNP_121	62	1185,7415	238.3+/-269.8	89,1007,3204	yes	missense	AP1G2	NM_003917.2	155	93,1130,5280	AA,AG,GG		13.7791,2.9732,10.1184	possibly-damaging	377/786	24033027	1316,11690	2203	4300	6503	SO:0001583	missense	8906	exon12			ACATTGGAGCTAT	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1130C>T	14.37:g.24033027G>A	ENSP00000312442:p.Ser377Phe	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	105	48	0.457143	NM_003917	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	132	0.06043956043956044	5	0.01016260162601626	32	0.08839779005524862	1	0.0017482517482517483	94	0.12401055408970976	G	18.60	3.659856	0.67586	0.029732	0.137791	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.15017	2.46;2.46	4.71	4.71	0.59529	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.208622	0.42548	D	0.000700	T	0.00356	0.0011	M	0.85630	2.765	0.25795	P	0.9845778	D;D	0.63046	0.992;0.992	D;D	0.70487	0.944;0.969	T	0.08452	-1.0721	9	0.87932	D	0	-9.9215	10.2873	0.43575	0.0:0.0:0.8032:0.1968	rs12897422;rs17794465;rs57359597;rs12897422	377;232	O75843;Q86V28	AP1G2_HUMAN;.	F	377;377;146;232	ENSP00000312442:S377F;ENSP00000380309:S377F	ENSP00000312442:S377F	S	-	2	0	AP1G2	23102867	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.364000	0.52328	2.425000	0.82216	0.557000	0.71058	TCC	G|0.919;A|0.081	0.081	strong		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		A	24033027	G	A	24033027	3	1	22	1	0	0	0	0	1	0	0	0	733	1174	41	2	1271	2	AP1G2	14	24033027	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6853	24033027	83316513	7306	12414										
DHRS2	10202	hgsc.bcm.edu	37	chr14	24114483	24114483	+	3'UTR	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagtgggggcggctgcgTagctgtggtcccaggcccag					rs7156794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24114483T>C	ENST00000250383.6	+	0	1340				DHRS2_ENST00000344777.7_Missense_Mutation_p.V292A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2						C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGCGGCTGCGTAGCTGTGGTC	0.602													c|||	572	0.114217	0.4153	0.0303	5008	,	,		17144	0.0		0.002	False		,,,				2504	0.0				p.V292A		Atlas-SNP	.											.	DHRS2	78	.	0			c.T875C						PASS	.		,ALA/VAL	1524,2882	480.3+/-358.8	279,966,958	61	62	61		,875	-2.1	0	14	dbSNP_116	61	19,8581	12.6+/-44.7	0,19,4281	yes	utr-3,missense	DHRS2	NM_005794.3,NM_182908.4	,64	279,985,5239	CC,CT,TT		0.2209,34.5892,11.8638	,benign	,292/301	24114483	1543,11463	2203	4300	6503	SO:0001624	3_prime_UTR_variant	10202	exon9			GCTGCGTAGCTGT		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.*21T>C	14.37:g.24114483T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	74	41	0.554054	NM_182908	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	198	0.09065934065934066	183	0.3719512195121951	14	0.03867403314917127	0	0.0	1	0.0013192612137203166	t	0.018	-1.479180	0.01035	0.345892	0.002209	ENSG00000100867	ENST00000344777	D	0.82984	-1.67	2.22	-2.14	0.07123	.	2.958940	0.01651	N	0.024553	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22068	-1.0227	8	0.87932	D	0	.	0.3421	0.00335	0.2015:0.3173:0.1984:0.2828	rs7156794;rs60193895	270	Q13268-2	.	A	292	ENSP00000344674:V292A	ENSP00000344674:V292A	V	+	2	0	DHRS2	23184323	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.227000	0.09126	-0.620000	0.05641	-0.251000	0.11542	GTA	T|0.941;C|0.059	0.059	strong		0.602	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		C	24114483	T	C	24114483	1	2	22	0	1	0	0	0	0	0	0	0	4490	1638	57	2		2	DHRS2	14	24114483	3'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	81456	24114483	83235057	7307	12415	257	2								
DHRS2	10202	hgsc.bcm.edu	37	chr14	24114490	24114490	+	3'UTR	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggcggctgcgtagctgtGgtcccaggcccaggagcctg					rs7150155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24114490G>A	ENST00000250383.6	+	0	1347				DHRS2_ENST00000344777.7_Silent_p.V294V	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2						C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCGTAGCTGTGGTCCCAGGCC	0.597													g|||	370	0.0738818	0.267	0.0216	5008	,	,		17143	0.0		0.002	False		,,,				2504	0.0				p.V294V		Atlas-SNP	.											DHRS2_ENST00000344777,NS,carcinoma,+1,1	DHRS2	78	1	0			c.G882A						scavenged	.		,	963,3443	362.4+/-316.1	113,737,1353	58	60	59		,882	2.3	0	14	dbSNP_116	59	13,8587	9.1+/-34.3	0,13,4287	no	utr-3,coding-synonymous	DHRS2	NM_005794.3,NM_182908.4	,	113,750,5640	AA,AG,GG		0.1512,21.8566,7.5042	,	,294/301	24114490	976,12030	2203	4300	6503	SO:0001624	3_prime_UTR_variant	10202	exon9			AGCTGTGGTCCCA		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.*28G>A	14.37:g.24114490G>A		Somatic	61	1	0.0163934		WXS	Illumina HiSeq	Phase_I	71	39	0.549296	NM_182908	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	CCDS9604.1																																																																																			G|0.966;A|0.034	0.034	strong		0.597	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		A	24114490	G	A	24114490	1	1	22	0	1	0	0	0	0	0	0	0	4490	1335	47	2		2	DHRS2	14	24114490	3'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7	24114490	83235050	7308	12416	257	2								
DHRS4	10901	hgsc.bcm.edu	37	chr14	24423007	24423007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtctgatccatgcacaagGcggggctgctaggcctctgt	14	11	2	1	rs17099455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24423007G>A	ENST00000313250.5	+	1	213	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_Missense_Mutation_p.A4T|DHRS4_ENST00000397073.2_5'UTR|DHRS4_ENST00000382761.3_5'UTR|DHRS4_ENST00000397074.3_Missense_Mutation_p.A4T|DHRS4_ENST00000559632.1_Missense_Mutation_p.A4T|DHRS4_ENST00000543741.2_Missense_Mutation_p.A4T|DHRS4_ENST00000308178.8_5'UTR|DHRS4_ENST00000558263.1_Missense_Mutation_p.A4T|DHRS4_ENST00000421831.1_5'UTR|DHRS4_ENST00000558581.1_Missense_Mutation_p.A4T	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	4					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CATGCACAAGGCGGGGCTGCT	0.662													.|||	988	0.197284	0.6135	0.1023	5008	,	,		16663	0.0099		0.0517	False		,,,				2504	0.045				p.A4T		Atlas-SNP	.											.	DHRS4	22	.	0			c.G10A						PASS	.	A	THR/ALA	2359,2047		647,1065,491	49	54	52		10	1.8	0	14	dbSNP_123	52	456,8144		13,430,3857	yes	missense	DHRS4	NM_021004.2	58	660,1495,4348	AA,AG,GG		5.3023,46.4594,21.6439	benign	4/279	24423007	2815,10191	2203	4300	6503	SO:0001583	missense	10901	exon1			CACAAGGCGGGGC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.10G>A	14.37:g.24423007G>A	ENSP00000326219:p.Ala4Thr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	393	0.17994505494505494	312	0.6341463414634146	36	0.09944751381215469	8	0.013986013986013986	37	0.048812664907651716	.	10.41	1.343665	0.24339	0.535406	0.053023	ENSG00000157326	ENST00000313250;ENST00000397075;ENST00000397074;ENST00000543741	D;T;T;T	0.84298	-1.83;1.85;0.42;1.63	2.71	1.81	0.25067	.	0.882556	0.09474	N	0.797291	T	0.00012	0.0000	L	0.60455	1.87	0.48571	P	3.300000000000525E-4	B;B;B;B;B;B	0.16603	0.011;0.001;0.0;0.018;0.003;0.001	B;B;B;B;B;B	0.17722	0.009;0.003;0.002;0.019;0.003;0.002	T	0.44390	-0.9331	9	0.42905	T	0.14	.	5.8712	0.18805	0.149:0.0:0.851:0.0	rs17099455;rs52815329;rs17099455	4;4;4;4;4;4	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	T	4	ENSP00000326219:A4T;ENSP00000380265:A4T;ENSP00000380264:A4T;ENSP00000440508:A4T	ENSP00000326219:A4T	A	+	1	0	DHRS4	23492847	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.198000	0.32223	0.744000	0.32741	-0.346000	0.07831	GCG	G|0.795;A|0.205	0.205	strong		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24423007	G	A	24423007	3	1	22	1	0	0	0	0	1	0	0	0	4492	1203	42	2	12	2	DHRS4	14	24423007	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	308517	24423007	82926533	7309	12417										
DHRS4	10901	hgsc.bcm.edu	37	chr14	24423090	24423090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgccgggacccgctcgcAaataaggtggccctggtaac	12	15	0	0	rs2273944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24423090A>G	ENST00000313250.5	+	1	296	c.93A>G	c.(91-93)gcA>gcG	p.A31A	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_Silent_p.A31A|DHRS4_ENST00000397073.2_Silent_p.A13A|DHRS4_ENST00000382761.3_Silent_p.A13A|DHRS4_ENST00000397074.3_Silent_p.A31A|DHRS4_ENST00000559632.1_Silent_p.A31A|DHRS4_ENST00000543741.2_Silent_p.A31A|DHRS4_ENST00000308178.8_Silent_p.A13A|DHRS4_ENST00000558263.1_Silent_p.A31A|DHRS4_ENST00000421831.1_Silent_p.A13A|DHRS4_ENST00000558581.1_Silent_p.A31A	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	31			A -> T (in dbSNP:rs1043442).		alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	ACCCGCTCGCAAATAAGGTGG	0.662													.|||	1415	0.282548	0.7973	0.1254	5008	,	,		15599	0.1359		0.0875	False		,,,				2504	0.0501				p.A31A		Atlas-SNP	.											.	DHRS4	22	.	0			c.A93G						PASS	.	G		3004,1398		1049,906,246	28	36	33		93	0.5	0.5	14	dbSNP_100	33	810,7782		36,738,3522	no	coding-synonymous	DHRS4	NM_021004.2		1085,1644,3768	GG,GA,AA		9.4274,31.7583,29.352		31/279	24423090	3814,9180	2201	4296	6497	SO:0001819	synonymous_variant	10901	exon1			GCTCGCAAATAAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.93A>G	14.37:g.24423090A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	63	28	0.444444	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			A|0.694;G|0.306	0.306	strong		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			G	24423090	A	G	24423090	2	3	22	1	0	0	0	0	0	0	0	1	4492	117	5	2		2	DHRS4	14	24423090	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	83	24423090	82926450	7310	12418										
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424367	24424367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaggggctgagcgtgacGggcaccgtgtgccatgtggg	22	8	0	2	rs12147221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24424367G>A	ENST00000313250.5	+	2	455	c.252G>A	c.(250-252)acG>acA	p.T84T	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_Silent_p.T84T|DHRS4_ENST00000397073.2_Silent_p.T66T|DHRS4_ENST00000382761.3_Silent_p.T66T|DHRS4_ENST00000397074.3_Silent_p.T84T|DHRS4_ENST00000559632.1_Silent_p.T84T|DHRS4_ENST00000543741.2_Silent_p.T84T|DHRS4_ENST00000308178.8_Silent_p.T66T|DHRS4_ENST00000558263.1_Silent_p.T84T|DHRS4_ENST00000421831.1_Silent_p.T66T|DHRS4_ENST00000558581.1_Silent_p.T84T	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	84					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGAGCGTGACGGGCACCGTGT	0.682													.|||	1006	0.200879	0.5998	0.1095	5008	,	,		15536	0.0099		0.0785	False		,,,				2504	0.0491				p.T84T		Atlas-SNP	.											.	DHRS4	22	.	0			c.G252A						PASS	.	G		2291,2115		588,1115,500	37	41	39		252	-6.6	0.3	14	dbSNP_120	39	612,7988		6,600,3694	no	coding-synonymous	DHRS4	NM_021004.2		594,1715,4194	AA,AG,GG		7.1163,48.0027,22.3205		84/279	24424367	2903,10103	2203	4300	6503	SO:0001819	synonymous_variant	10901	exon2			CGTGACGGGCACC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.252G>A	14.37:g.24424367G>A		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	321	157	0.489097	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			G|0.796;A|0.204	0.204	strong		0.682	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24424367	G	A	24424367	2	1	22	1	0	0	0	0	0	0	0	1	4492	1103	39	1		1	DHRS4	14	24424367	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1277	24424367	82925173	7311	12419										
DHRS4L1	728635	hgsc.bcm.edu	37	chr14	24505722	24505722	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgatccatgcacaaggcgCggctacgaggccactgtgcc	12	14	1	1	rs8005834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24505722C>G	ENST00000558293.1	+	0	61					NR_102693.1																						GCACAAGGCGCGGCTACGAGG	0.662													G|||	2318	0.462859	0.6422	0.3444	5008	,	,		16247	0.5863		0.2157	False		,,,				2504	0.4315				p.R5G		Atlas-SNP	.											.	.	.	.	0			c.C13G						PASS	.	G	GLY/ARG	2570,1836		763,1044,396	43	43	43		13	1	0	14	dbSNP_116	43	1821,6779		200,1421,2679	no	missense	DHRS4L1	NM_001082488.1	125	963,2465,3075	GG,GC,CC		21.1744,41.6704,33.7613	benign	5/282	24505722	4391,8615	2203	4300	6503			728635	exon1			AAGGCGCGGCTAC																													14.37:g.24505722C>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	98	36	0.367347	NM_001082488		Missense_Mutation	SNP	ENST00000558293.1	37		957	0.4381868131868132	333	0.676829268292683	116	0.32044198895027626	351	0.6136363636363636	157	0.20712401055408972	-	6.585	0.476309	0.12521	0.583296	0.211744	ENSG00000225766	ENST00000397065	.	.	.	1.94	0.966	0.19667	.	.	.	.	.	T	0.00012	0.0000	N	0.02736	-0.51	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	7	0.36615	T	0.2	.	7.5988	0.28065	0.0:0.5299:0.4701:0.0	rs8005834;rs52837552;rs8005834	5	P0CG22	DR4L1_HUMAN	G	5	.	ENSP00000380255:R5G	R	+	1	2	AL136295.1	23575562	0.000000	0.05858	0.008000	0.14137	0.064000	0.16182	-0.561000	0.05957	-0.022000	0.13986	-1.042000	0.02369	CGG	C|0.569;G|0.431	0.431	strong		0.662	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			G	24505722	C	G	24505722	1	3	22	0	1	0	0	0	0	0	0	0	4493	759	27	4		4	DHRS4L1	14	24505722	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81355	24505722	82843818	7312	12420										
DHRS4L1	728635	hgsc.bcm.edu	37	chr14	24507003	24507003	+	RNA	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagacggggcccacgtggtAgtcagccgccggaagcagca					rs28599797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24507003A>C	ENST00000558293.1	+	0	176					NR_102693.1																						CCCACGTGGTAGTCAGCCGCC	0.637													T|||	1608	0.321086	0.5908	0.2118	5008	,	,		16879	0.3641		0.0994	False		,,,				2504	0.2178				p.V60V		Atlas-SNP	.											.	.	.	.	0			c.A180C						PASS	.	T		2332,2074		618,1096,489	32	34	33		180	-5.3	0.5	14	dbSNP_125	33	912,7688		49,814,3437	no	coding-synonymous	DHRS4L1	NM_001082488.1		667,1910,3926	CC,CA,AA		10.6047,47.0722,24.9423		60/282	24507003	3244,9762	2203	4300	6503			728635	exon2			CGTGGTAGTCAGC																													14.37:g.24507003A>C		Somatic	283	1	0.00353357		WXS	Illumina HiSeq	Phase_I	317	169	0.533123	NM_001082488		Silent	SNP	ENST00000558293.1	37																																																																																				A|0.751;C|0.249	0.249	strong		0.637	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			C	24507003	A	C	24507003	1	2	22	0	1	0	0	0	0	0	0	0	4493	407	15	5		5	DHRS4L1	14	24507003	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1281	24507003	82842537	7313	12421	258	2								
DHRS4L1	728635	hgsc.bcm.edu	37	chr14	24507010	24507010	+	RNA	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcccacgtggtagtcagcCgccggaagcagcagaatgtg					rs12587718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24507010C>A	ENST00000558293.1	+	0	176					NR_102693.1																						GGTAGTCAGCCGCCGGAAGCA	0.637													A|||	1669	0.333267	0.6483	0.1916	5008	,	,		17227	0.3274		0.1193	False		,,,				2504	0.2342				p.R63S		Atlas-SNP	.											.	.	.	.	0			c.C187A						PASS	.	A	SER/ARG	2452,1954		696,1060,447	34	35	34		187	3.3	1	14	dbSNP_120	34	936,7664		50,836,3414	no	missense	DHRS4L1	NM_001082488.1	110	746,1896,3861	AA,AC,CC		10.8837,44.3486,26.0495	benign	63/282	24507010	3388,9618	2203	4300	6503			728635	exon2			GTCAGCCGCCGGA																													14.37:g.24507010C>A		Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	325	179	0.550769	NM_001082488		Missense_Mutation	SNP	ENST00000558293.1	37		662	0.3031135531135531	318	0.6463414634146342	71	0.19613259668508287	191	0.3339160839160839	82	0.10817941952506596	-	7.162	0.585944	0.13749	0.556514	0.108837	ENSG00000225766	ENST00000397065	.	.	.	3.31	3.31	0.37934	NAD(P)-binding domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.00107	-2.115	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.45862	-0.9232	7	0.02654	T	1	.	8.0999	0.30850	0.7943:0.2057:0.0:0.0	rs12587718;rs58779867	63	P0CG22	DR4L1_HUMAN	S	63	.	ENSP00000380255:R63S	R	+	1	0	AL136295.1	23576850	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	5.800000	0.69108	0.473000	0.27368	-0.814000	0.03130	CGC	C|0.731;A|0.269	0.269	strong		0.637	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			A	24507010	C	A	24507010	1	1	22	0	1	0	0	0	0	0	0	0	4493	652	23	4		4	DHRS4L1	14	24507010	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	24507010	82842530	7314	12422	258	2								
LRRC16B	90668	hgsc.bcm.edu	37	chr14	24527220	24527220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttcttcagcagcgcctaCacactgagccacgtcaatct	7	15	4	1	rs4982853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24527220C>T	ENST00000342740.5	+	16	1423	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	423						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCAGCGCCTACACACTGAGCC	0.657											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	998	0.199281	0.1014	0.2032	5008	,	,		18014	0.4306		0.0616	False		,,,				2504	0.2321				p.Y423Y		Atlas-SNP	.											.	LRRC16B	120	.	0			c.C1269T						PASS	.	C		442,3964	202.8+/-225.5	21,400,1782	64	68	67		1269	4.2	1	14	dbSNP_111	67	476,8124	137.6+/-194.5	11,454,3835	no	coding-synonymous	LRRC16B	NM_138360.3		32,854,5617	TT,TC,CC		5.5349,10.0318,7.0583		423/1373	24527220	918,12088	2203	4300	6503	SO:0001819	synonymous_variant	90668	exon16			CGCCTACACACTG	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1269C>T	14.37:g.24527220C>T		Somatic	114	0	0	772	WXS	Illumina HiSeq	Phase_I	107	59	0.551402	NM_138360	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																			C|0.898;T|0.102	0.102	strong		0.657	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		T	24527220	C	T	24527220	2	4	22	1	0	0	0	0	0	0	0	1	8972	489	17	2		2	LRRC16B	14	24527220	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20210	24527220	82822320	7315	12423										
LRRC16B	90668	hgsc.bcm.edu	37	chr14	24529209	24529209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgcttcatgtccttcccCgtgagcgacatctcccaagc	8	17	2	1	rs61564890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24529209C>T	ENST00000342740.5	+	23	2053	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	633						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTCCTTCCCCGTGAGCGACA	0.642													C|||	959	0.191494	0.0416	0.2104	5008	,	,		20833	0.4643		0.0616	False		,,,				2504	0.2331				p.P633P		Atlas-SNP	.											.	LRRC16B	120	.	0			c.C1899T						PASS	.	C		199,4207	122.1+/-159.5	6,187,2010	154	131	139		1899	-9.1	0.2	14	dbSNP_129	139	474,8126	139.5+/-196.2	11,452,3837	no	coding-synonymous	LRRC16B	NM_138360.3		17,639,5847	TT,TC,CC		5.5116,4.5166,5.1745		633/1373	24529209	673,12333	2203	4300	6503	SO:0001819	synonymous_variant	90668	exon23			CTTCCCCGTGAGC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1899C>T	14.37:g.24529209C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	99	45	0.454545	NM_138360	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																			C|0.908;T|0.092	0.092	strong		0.642	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		T	24529209	C	T	24529209	2	4	22	1	0	0	0	0	0	0	0	1	8972	639	23	1		1	LRRC16B	14	24529209	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1989	24529209	82820331	7316	12424										
LRRC16B	90668	hgsc.bcm.edu	37	chr14	24533539	24533539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcttcagccgaagggtcCtggaggaaagttctaggtgt	13	8	3	0	rs10146906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24533539C>A	ENST00000342740.5	+	32	3218	c.3064C>A	c.(3064-3066)Ctg>Atg	p.L1022M	LRRC16B_ENST00000334420.7_Missense_Mutation_p.L118M	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1022			L -> M (in dbSNP:rs10146906).			cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCGAAGGGTCCTGGAGGAAAG	0.587													A|||	1746	0.348642	0.4955	0.4553	5008	,	,		17869	0.0437		0.4632	False		,,,				2504	0.271				p.L1022M		Atlas-SNP	.											.	LRRC16B	120	.	0			c.C3064A						PASS	.	A	MET/LEU	2144,2262	587.6+/-386.7	530,1084,589	66	54	58		3064	5.3	1	14	dbSNP_119	58	3899,4701	596.6+/-393.6	866,2167,1267	yes	missense	LRRC16B	NM_138360.3	15	1396,3251,1856	AA,AC,CC		45.3372,48.6609,46.4632	benign	1022/1373	24533539	6043,6963	2203	4300	6503	SO:0001583	missense	90668	exon32			AGGGTCCTGGAGG	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3064C>A	14.37:g.24533539C>A	ENSP00000340467:p.Leu1022Met	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	785	0.35943223443223443	237	0.4817073170731707	161	0.4447513812154696	25	0.043706293706293704	362	0.47757255936675463	A	11.50	1.658049	0.29425	0.486609	0.453372	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.43688	0.94;0.94	5.28	5.28	0.74379	.	0.000000	0.52532	N	0.000075	T	0.00012	0.0000	N	0.05383	-0.06	0.58432	P	9.99999999995449E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45629	-0.9248	9	0.11794	T	0.64	-6.5815	9.8541	0.41075	0.6661:0.3338:0.0:0.0	rs10146906;rs52794133;rs56948275;rs10146906	118;1022	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	M	1022;118	ENSP00000340467:L1022M;ENSP00000334701:L118M	ENSP00000334701:L118M	L	+	1	2	LRRC16B	23603379	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.101000	0.41787	0.852000	0.35287	-0.256000	0.11100	CTG	C|0.593;A|0.407	0.407	strong		0.587	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24533539	C	A	24533539	3	1	22	1	0	0	0	0	1	0	0	0	8972	680	24	4	3190	4	LRRC16B	14	24533539	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4330	24533539	82816001	7317	12425										
DCAF11	80344	hgsc.bcm.edu	37	chr14	24587639	24587639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgatatggccgtttccGtaaattcaagagcatcaagg	10	10	2	1	rs3825584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24587639G>A	ENST00000446197.3	+	7	1347	c.620G>A	c.(619-621)cGt>cAt	p.R207H	DCAF11_ENST00000560171.1_3'UTR|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107H|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181H|DCAF11_ENST00000559115.1_Missense_Mutation_p.R207H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	207			R -> H (in dbSNP:rs3825584). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.7}.		protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGCCGTTTCCGTAAATTCAAG	0.488													g|||	1989	0.397165	0.3351	0.4625	5008	,	,		23535	0.4355		0.3032	False		,,,				2504	0.4918				p.R207H		Atlas-SNP	.											.	.	.	.	0			c.G620A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG	1405,3001	461.1+/-352.8	229,947,1027	134	126	129		620,620,542	-5.3	0.7	14	dbSNP_107	129	2340,6260	391.3+/-343.6	326,1688,2286	yes	missense,missense,missense	DCAF11	NM_001163484.1,NM_025230.4,NM_181357.2	29,29,29	555,2635,3313	AA,AG,GG		27.2093,31.8883,28.7944	benign,benign,benign	207/547,207/547,181/521	24587639	3745,9261	2203	4300	6503	SO:0001583	missense	80344	exon7			GTTTCCGTAAATT	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.620G>A	14.37:g.24587639G>A	ENSP00000415556:p.Arg207His	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	168	77	0.458333	NM_025230	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	791	0.36217948717948717	167	0.3394308943089431	162	0.44751381215469616	230	0.4020979020979021	232	0.30606860158311344	g	11.67	1.708956	0.30322	0.318883	0.272093	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.41065	1.01;1.01	5.4	-5.29	0.02747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.537521	0.21749	N	0.069715	T	0.00012	0.0000	N	0.02539	-0.55	0.44603	P	0.0024290000000000145	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.0	T	0.48559	-0.9025	9	0.35671	T	0.21	-0.7512	13.2261	0.59914	0.4655:0.0:0.5345:0.0	rs3825584;rs58760613;rs3825584	181;107;207;207	Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;DCA11_HUMAN	H	207;181;107;181	ENSP00000380142:R107H;ENSP00000380146:R181H	ENSP00000323680:R207H	R	+	2	0	DCAF11	23657479	0.716000	0.27956	0.737000	0.30932	0.986000	0.74619	0.021000	0.13489	-1.098000	0.03038	-0.290000	0.09829	CGT	G|0.685;A|0.315	0.315	strong		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			A	24587639	G	A	24587639	3	1	22	1	0	0	0	0	1	0	0	0	4262	1145	40	1	642	1	DCAF11	14	24587639	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54100	24587639	82761901	7318	12426										
PSME2	5721	hgsc.bcm.edu	37	chr14	24615435	24615435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcctggaaaagattctgTctgaagacctccacctacac	6	14	2	3	rs4575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24615435T>C	ENST00000216802.5	-	2	702	c.63A>G	c.(61-63)agA>agG	p.R21R	RNF31_ENST00000324103.6_5'Flank|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_Intron|PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000559275.1_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	21					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AAAGATTCTGTCTGAAGACCT	0.507													C|||	2844	0.567891	0.7905	0.5447	5008	,	,		17071	0.6369		0.3231	False		,,,				2504	0.4642				p.R21R		Atlas-SNP	.											.	PSME2	21	.	0			c.A63G						PASS	.	C		3076,1330	445.5+/-347.7	1085,906,212	96	97	97		63	4	1	14	dbSNP_52	97	2376,6224	701.4+/-405.2	338,1700,2262	no	coding-synonymous	PSME2	NM_002818.2		1423,2606,2474	CC,CT,TT		27.6279,30.1861,41.9191		21/240	24615435	5452,7554	2203	4300	6503	SO:0001819	synonymous_variant	5721	exon2			ATTCTGTCTGAAG		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.63A>G	14.37:g.24615435T>C		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_002818	Q15129	Silent	SNP	ENST00000216802.5	37	CCDS9614.1																																																																																			T|0.531;C|0.469	0.469	strong		0.507	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		C	24615435	T	C	24615435	2	2	22	1	0	0	0	0	0	0	0	1	12707	1664	58	2		2	PSME2	14	24615435	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27796	24615435	82734105	7319	12427										
REC8	79711	hgsc.bcm.edu	37	chr14	24647814	24647814	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcccccactacacagccTatggtgcagccgcccgagag	9	18	0	1	rs1885711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24647814T>C	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Silent_p.P332P|REC8_ENST00000311457.3_Silent_p.P332P	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTACACAGCCTATGGTGCAGC	0.567													C|||	3669	0.732628	0.9092	0.6614	5008	,	,		15515	0.87		0.507	False		,,,				2504	0.635				p.P332P		Atlas-SNP	.											.	REC8	47	.	0			c.T996C						PASS	.	C	,	3049,681		1247,555,63	53	60	58		996,996	-5.9	0.2	14	dbSNP_92	58	4041,4167		995,2051,1058	no	coding-synonymous,coding-synonymous	REC8	NM_001048205.1,NM_005132.2	,	2242,2606,1121	CC,CT,TT		49.2325,18.2574,40.6098	,	332/547,332/547	24647814	7090,4848	1865	4104	5969	SO:0001628	intergenic_variant	9985	exon13			ACAGCCTATGGTG	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24647814T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	80	41	0.5125	NM_001048205	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	CCDS9616.1																																																																																			T|0.305;C|0.695	0.695	strong		0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		C	24647814	T	C	24647814	1	2	22	0	1	0	0	0	0	0	0	0	13199	1509	53	3		3	REC8	14	24647814	IGR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32379	24647814	82701726	7320	12428										
IPO4	79711	hgsc.bcm.edu	37	chr14	24652350	24652350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcatgtaggatggcacGactcgggccagggcagcctg	16	12	0	0	rs377303706		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24652350G>A	ENST00000354464.6	-	23	2429	c.2253C>T	c.(2251-2253)gtC>gtT	p.V751V	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	751					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATGGCACGACTCGGGCCA	0.667																																					p.V751V		Atlas-SNP	.											.	IPO4	74	.	0			c.C2253T						PASS	.	C		6,4192		0,6,2093	42	48	46		2253	4	1	14		46	0,8460		0,0,4230	no	coding-synonymous	IPO4	NM_024658.3		0,6,6323	AA,AG,GG		0.0,0.1429,0.0474		751/1082	24652350	6,12652	2099	4230	6329	SO:0001819	synonymous_variant	79711	exon23			TGGCACGACTCGG	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2253C>T	14.37:g.24652350G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	136	72	0.529412	NM_024658	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	CCDS9616.1																																																																																			.	.	weak		0.667	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		A	24652350	G	A	24652350	2	1	22	1	0	0	0	0	0	0	0	1	7795	1045	37	1		1	IPO4	14	24652350	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4536	24652350	82697190	7321	12429										
MDP1	145553	hgsc.bcm.edu	37	chr14	24683267	24683267	+	Frame_Shift_Del	DEL	A	A	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcctcaaggctggacctcAaaggcccagtttgggccttc					rs3215610|rs398102305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24683267delA	ENST00000288087.7	-	6	605	c.494delT	c.(493-495)ttgfs	p.L165fs	TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000396833.2_Frame_Shift_Del_p.F118fs|CHMP4A_ENST00000542700.2_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	165						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						GCTGGACCTCAAAGGCCCAGT	0.418													AA|AAA|AA|insertion	1020	0.203674	0.4342	0.0807	5008	,	,		23163	0.2123		0.0686	False		,,,				2504	0.1094				p.L182fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.546delG						PASS	.		,,,	1728,2536		344,1040,748	42	63	56		,,,	2.4	0.9	14	dbSNP_134	68	579,7675		25,529,3573	no	frameshift,frameshift,utr-3,frameshift	MDP1,NEDD8-MDP1	NM_138476.3,NM_001199823.1,NM_001199822.1,NM_001199821.1	,,,	369,1569,4321	A1A1,A1R,RR		7.0148,40.5253,18.4295	,,,	,,,	24683267	2307,10211	2162	4299	6461	SO:0001589	frameshift_variant	100528064	exon7			.	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.494delT	14.37:g.24683267delA	ENSP00000288087:p.Leu165fs	Somatic	90	.	.		WXS	Illumina HiSeq	Phase_I	136	46	0.338	NM_001199823	Q86Y84|Q8NAD9	Frame_Shift_Del	DEL	ENST00000288087.7	37	CCDS9620.1																																																																																			A|0.812;-|0.188	0.188	strong		0.418	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		-	24683267	A	-	24683267	7	5	22	1	0	1	0	1	0	0	0	0	9416	131	5	0	40	0	MDP1	14	24683267	Frame_Shift_Del	DEL	A	TCGA-G8-6324-01A-11D-2210-10	30917	24683267	82666273	7322	12430										
TINF2	26277	hgsc.bcm.edu	37	chr14	24709351	24709351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacggagctgcacagagaCggaggacacactgtaggagg	16	8	0	2	rs10141326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24709351C>T	ENST00000267415.7	-	8	1481	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Silent_p.P345P|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	380					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGCACAGAGACGGAGGACACA	0.502									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				T|||	299	0.0597045	0.2209	0.0101	5008	,	,		21880	0.0		0.0	False		,,,				2504	0.0				p.P380P		Atlas-SNP	.											.	TINF2	61	.	0			c.G1140A						PASS	.	T	,	753,3255		77,599,1328	164	172	169		1140,	1.7	0	14	dbSNP_119	169	10,8338		0,10,4164	no	coding-synonymous,utr-3	TINF2	NM_001099274.1,NM_012461.2	,	77,609,5492	TT,TC,CC		0.1198,18.7874,6.1751	,	380/452,	24709351	763,11593	2004	4174	6178	SO:0001819	synonymous_variant	26277	exon8	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	CAGAGACGGAGGA	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1140G>A	14.37:g.24709351C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	123	64	0.520325	NM_001099274	B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	CCDS41936.1																																																																																			C|0.944;T|0.056	0.056	strong		0.502	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24709351	C	T	24709351	2	4	22	1	0	0	0	0	0	0	0	1	15920	523	19	1		1	TINF2	14	24709351	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26084	24709351	82640189	7323	12431										
RABGGTA	5875	hgsc.bcm.edu	37	chr14	24736027	24736027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtggcagggttcggagGcgattgtgtgacaagtcaag	18	6	1	1	rs14193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24736027G>A	ENST00000399409.3	-	14	1905	c.1422C>T	c.(1420-1422)cgC>cgT	p.R474R	RABGGTA_ENST00000216840.6_Silent_p.R474R|RABGGTA_ENST00000560777.1_Silent_p.R83R|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	474					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCGGAGGCGATTGTGTG	0.582													A|||	2934	0.585863	0.7254	0.5461	5008	,	,		21076	0.6151		0.3628	False		,,,				2504	0.6247				p.R474R		Atlas-SNP	.											.	RABGGTA	43	.	0			c.C1422T						PASS	.	A	,	2847,1481		957,933,274	91	110	104		1422,1422	-1.6	1	14	dbSNP_52	104	3068,5482		551,1966,1758	no	coding-synonymous,coding-synonymous	RABGGTA	NM_004581.3,NM_182836.1	,	1508,2899,2032	AA,AG,GG		35.883,34.219,45.931	,	474/568,474/568	24736027	5915,6963	2164	4275	6439	SO:0001819	synonymous_variant	5875	exon14			TCGGAGGCGATTG		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1422C>T	14.37:g.24736027G>A		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	231	97	0.419913	NM_004581	A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	CCDS45088.1																																																																																			T|0.000;G|0.465;A|0.534	0.534	strong		0.582	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		A	24736027	G	A	24736027	2	1	22	1	0	0	0	0	0	0	0	1	12967	1190	42	2		2	RABGGTA	14	24736027	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26676	24736027	82613513	7324	12432										
DHRS1	115817	hgsc.bcm.edu	37	chr14	24768220	24768220	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtgatgtaaactgtggcGcctgctttgcagagctgcaa	12	10	0	2	rs150092528		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24768220G>T	ENST00000288111.7	-	2	369	c.93C>A	c.(91-93)ggC>ggA	p.G31G	NOP9_ENST00000396802.3_5'Flank|NOP9_ENST00000267425.3_5'Flank|DHRS1_ENST00000396813.1_Silent_p.G31G	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	31						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AAACTGTGGCGCCTGCTTTGC	0.582																																					p.G31G		Atlas-SNP	.											.	DHRS1	21	.	0			c.C93A						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	67	60	63		93,93	-8.8	0.9	14	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHRS1	NM_001136050.2,NM_138452.2	,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,	31/314,31/314	24768220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	115817	exon2			TGTGGCGCCTGCT	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16445	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 19C, member 1"	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.93C>A	14.37:g.24768220G>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	69	25	0.362319	NM_138452	D3DS71|Q8NDG3|Q96B59|Q96CQ5	Silent	SNP	ENST00000288111.7	37	CCDS9623.1																																																																																			G|1.000;T|0.000	0.000	weak		0.582	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		T	24768220	G	T	24768220	2	4	22	1	0	0	0	0	0	0	0	1	4486	1074	38	4		4	DHRS1	14	24768220	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32193	24768220	82581320	7325	12433										
C14orf21	161424	hgsc.bcm.edu	37	chr14	24772373	24772373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccctggtgggggcctgtCgcagagttggggcctaccaa	16	11	0	1	rs147123517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24772373C>T	ENST00000267425.3	+	6	1330	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	NOP9_ENST00000396802.3_Missense_Mutation_p.R413C	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	413							poly(A) RNA binding (GO:0044822)										GGGGGCCTGTCGCAGAGTTGG	0.557													C|||	8	0.00159744	0.0	0.0014	5008	,	,		16884	0.0		0.007	False		,,,				2504	0.0				p.R413C		Atlas-SNP	.											.	.	.	.	0			c.C1237T						PASS	.	C	CYS/ARG	4,4402	6.2+/-15.9	0,4,2199	70	71	71		1237	4.2	1	14	dbSNP_134	71	45,8555	30.1+/-81.4	0,45,4255	yes	missense	C14orf21	NM_174913.1	180	0,49,6454	TT,TC,CC		0.5233,0.0908,0.3767	probably-damaging	413/637	24772373	49,12957	2203	4300	6503	SO:0001583	missense	161424	exon6			GCCTGTCGCAGAG		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1237C>T	14.37:g.24772373C>T	ENSP00000267425:p.Arg413Cys	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	150	70	0.466667	NM_174913	A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	CCDS9624.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	18.19	3.567896	0.65651	9.08E-4	0.005233	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32753	1.48;1.44	5.16	4.25	0.50352	.	0.224065	0.38897	N	0.001525	T	0.35189	0.0923	L	0.54323	1.7	0.43536	D	0.995829	D	0.76494	0.999	P	0.59288	0.855	T	0.23013	-1.0200	10	0.52906	T	0.07	-4.9362	11.1833	0.48642	0.4521:0.5479:0.0:0.0	.	413	Q86U38	CN021_HUMAN	C	413	ENSP00000267425:R413C;ENSP00000380020:R413C	ENSP00000267425:R413C	R	+	1	0	C14orf21	23842213	0.869000	0.29996	1.000000	0.80357	0.909000	0.53808	0.630000	0.24553	1.356000	0.45884	0.563000	0.77884	CGC	C|0.996;T|0.004	0.004	strong		0.557	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			T	24772373	C	T	24772373	3	4	22	1	0	0	0	0	1	0	0	0	1769	884	31	1	1259	1	C14orf21	14	24772373	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4153	24772373	82577167	7326	12434										
RIPK3	11035	hgsc.bcm.edu	37	chr14	24805463	24805463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcttgcgaacctactggtGgggggtgctgcaagcccctc	13	13	1	0	rs3212254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24805463G>T	ENST00000216274.5	-	10	1693	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000310677.4_5'Flank|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000554068.2_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	492			P -> Q (in dbSNP:rs3212254). {ECO:0000269|PubMed:17344846}.		activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACCTACTGGTGGGGGGTGCTG	0.547													G|||	602	0.120208	0.239	0.036	5008	,	,		15712	0.1339		0.0537	False		,,,				2504	0.0736				p.P492Q	Pancreas(58;918 1191 4668 13304 15331)	Atlas-SNP	.											.	RIPK3	43	.	0			c.C1475A						PASS	.	G	GLN/PRO	886,3520	343.1+/-307.5	92,702,1409	74	77	76		1475	1.9	0	14	dbSNP_105	76	486,8114	141.1+/-197.5	13,460,3827	yes	missense	RIPK3	NM_006871.3	76	105,1162,5236	TT,TG,GG		5.6512,20.1089,10.549	benign	492/519	24805463	1372,11634	2203	4300	6503	SO:0001583	missense	11035	exon10			ACTGGTGGGGGGT	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1475C>A	14.37:g.24805463G>T	ENSP00000216274:p.Pro492Gln	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_006871	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	CCDS9628.1	233	0.10668498168498168	108	0.21951219512195122	15	0.04143646408839779	67	0.11713286713286714	43	0.05672823218997362	G	7.107	0.575327	0.13623	0.201089	0.056512	ENSG00000129465	ENST00000216274	T	0.77620	-1.11	2.77	1.86	0.25419	.	0.903075	0.09280	N	0.823841	T	0.00109	0.0003	N	0.12182	0.205	0.80722	P	0.0	D	0.76494	0.999	D	0.65010	0.931	T	0.12116	-1.0560	9	0.52906	T	0.07	-0.7917	7.7066	0.28653	0.0:0.2611:0.7389:0.0	rs3212254;rs3212254	492	Q9Y572	RIPK3_HUMAN	Q	492	ENSP00000216274:P492Q	ENSP00000216274:P492Q	P	-	2	0	RIPK3	23875303	0.009000	0.17119	0.002000	0.10522	0.078000	0.17371	1.803000	0.38863	0.719000	0.32188	-0.304000	0.09214	CCA	G|0.896;T|0.104	0.104	strong		0.547	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24805463	G	T	24805463	3	4	22	1	0	0	0	0	1	0	0	0	13382	1348	47	4	85	4	RIPK3	14	24805463	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33090	24805463	82544077	7327	12435										
NFATC4	4776	hgsc.bcm.edu	37	chr14	24839165	24839165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttctccgatgcctctgaCgaggcagccctgtatgcagc	10	14	3	1	rs2228233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24839165C>T	ENST00000250373.4	+	2	702	c.561C>T	c.(559-561)gaC>gaT	p.D187D	NFATC4_ENST00000557451.1_Silent_p.D117D|NFATC4_ENST00000554966.1_Silent_p.D200D|NFATC4_ENST00000554661.1_Silent_p.D117D|NFATC4_ENST00000556279.1_Silent_p.D219D|NFATC4_ENST00000555590.1_Silent_p.D200D|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554050.1_Silent_p.D187D|NFATC4_ENST00000554344.1_Silent_p.D117D|NFATC4_ENST00000422617.3_Silent_p.D175D|NFATC4_ENST00000554591.1_Silent_p.D250D|NFATC4_ENST00000553469.1_Silent_p.D219D|NFATC4_ENST00000555453.1_Silent_p.D175D|NFATC4_ENST00000424781.2_Silent_p.D200D|NFATC4_ENST00000413692.2_Silent_p.D250D|NFATC4_ENST00000556169.1_Silent_p.D175D|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000539237.2_Silent_p.D219D|NFATC4_ENST00000553708.1_Silent_p.D187D|NFATC4_ENST00000553879.1_Silent_p.D117D	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	187	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATGCCTCTGACGAGGCAGCCC	0.677													C|||	2004	0.40016	0.3986	0.4323	5008	,	,		13805	0.4692		0.2644	False		,,,				2504	0.4479				p.D250D		Atlas-SNP	.											.	NFATC4	115	.	0			c.C750T						PASS	.	C	,,,,	1539,2789		287,965,912	23	25	24		750,561,351,750,561	-7.2	0.2	14	dbSNP_98	24	2264,6272		323,1618,2327	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFATC4	NM_001136022.1,NM_001198965.1,NM_001198966.1,NM_001198967.1,NM_004554.4	,,,,	610,2583,3239	TT,TC,CC		26.523,35.5591,29.5631	,,,,	250/965,187/795,117/833,250/858,187/903	24839165	3803,9061	2164	4268	6432	SO:0001819	synonymous_variant	4776	exon3			CTCTGACGAGGCA	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.561C>T	14.37:g.24839165C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	128	57	0.445312	NM_001198967	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	CCDS9629.1																																																																																			C|0.667;T|0.333	0.333	strong		0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		T	24839165	C	T	24839165	2	4	22	1	0	0	0	0	0	0	0	1	10365	535	19	1		1	NFATC4	14	24839165	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33702	24839165	82510375	7328	12436										
NYNRIN	57523	hgsc.bcm.edu	37	chr14	24877699	24877699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccctgatcacagcccagAgcacaccgcaggaggcagca	12	15	1	2	rs74036628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24877699A>G	ENST00000382554.3	+	3	1141	c.823A>G	c.(823-825)Agc>Ggc	p.S275G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	275					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACAGCCCAGAGCACACCGCA	0.557													A|||	428	0.0854633	0.1377	0.036	5008	,	,		17776	0.1429		0.002	False		,,,				2504	0.0767				p.S275G		Atlas-SNP	.											.	NYNRIN	120	.	0			c.A823G						PASS	.	A	GLY/SER	401,3803		17,367,1718	16	18	17		823	3.8	0	14	dbSNP_130	17	13,8425		0,13,4206	yes	missense	NYNRIN	NM_025081.2	56	17,380,5924	GG,GA,AA		0.1541,9.5385,3.2748	benign	275/1899	24877699	414,12228	2102	4219	6321	SO:0001583	missense	57523	exon3			GCCCAGAGCACAC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.823A>G	14.37:g.24877699A>G	ENSP00000371994:p.Ser275Gly	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	44	20	0.454545	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	140	0.0641025641025641	61	0.12398373983739837	9	0.024861878453038673	68	0.11888111888111888	2	0.002638522427440633	A	3.063	-0.192825	0.06259	0.095385	0.001541	ENSG00000205978	ENST00000382554	T	0.11495	2.77	4.96	3.82	0.43975	.	3.272380	0.00664	N	0.000601	T	0.00109	0.0003	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	9	0.26408	T	0.33	.	7.2075	0.25915	0.9008:0.0:0.0992:0.0	.	275	Q9P2P1	NYNRI_HUMAN	G	275	ENSP00000371994:S275G	ENSP00000371994:S275G	S	+	1	0	NYNRIN	23947539	0.001000	0.12720	0.036000	0.18154	0.099000	0.18886	0.882000	0.28186	0.909000	0.36697	0.459000	0.35465	AGC	A|0.934;G|0.066	0.066	strong		0.557	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			G	24877699	A	G	24877699	3	3	22	1	0	0	0	0	1	0	0	0	10796	304	11	3	829	3	NYNRIN	14	24877699	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38534	24877699	82471841	7329	12437										
CBLN3	643866	hgsc.bcm.edu	37	chr14	24898135	24898135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaccaccaggcactccccCtccagcaggacgggctctga	10	18	1	2	rs57646536	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24898135C>T	ENST00000267406.6	-	1	596	c.126G>A	c.(124-126)gaG>gaA	p.E42E	CBLN3_ENST00000555436.1_Intron|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	42						cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GGCACTCCCCCTCCAGCAGGA	0.716													C|||	296	0.0591054	0.2088	0.0274	5008	,	,		13699	0.0		0.001	False		,,,				2504	0.0				p.E42E		Atlas-SNP	.											.	CBLN3	21	.	0			c.G126A						PASS	.	C		554,3752		31,492,1630	9	11	10		126	1	1	14	dbSNP_129	10	5,8401		0,5,4198	no	coding-synonymous	CBLN3	NM_001039771.2		31,497,5828	TT,TC,CC		0.0595,12.8658,4.3974		42/206	24898135	559,12153	2153	4203	6356	SO:0001819	synonymous_variant	643866	exon1			CTCCCCCTCCAGC	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.126G>A	14.37:g.24898135C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	99	50	0.50505	NM_001039771		Silent	SNP	ENST00000267406.6	37	CCDS32057.1																																																																																			C|0.963;T|0.037	0.037	strong		0.716	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		T	24898135	C	T	24898135	2	4	22	1	0	0	0	0	0	0	0	1	2706	680	24	2		2	CBLN3	14	24898135	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20436	24898135	82451405	7330	12438										
CMA1	1215	hgsc.bcm.edu	37	chr14	24976605	24976605	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcacaaagttccgtcttaTaaggaaaccaccacaaaatt					rs542619483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:24976605delT	ENST00000250378.3	-	2	195	c.166delA	c.(166-168)atafs	p.I56fs	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	56	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTCCGTCTTATAAGGAAACCA	0.488													?|T|-|unsure	8	0.00159744	0.0061	0.0	5008	,	,		19307	0.0		0.0	False		,,,				2504	0.0				p.I56fs		Pindel,Atlas-Indel	.											.	CMA1	21	.	0			c.167delT						PASS	.			12,4252		0,12,2120	143	139	140			5	0.2	14		140	0,8254		0,0,4127	no	frameshift	CMA1	NM_001836.2		0,12,6247	A1A1,A1R,RR		0.0,0.2814,0.0959			24976605	12,12506	2203	4300	6503	SO:0001589	frameshift_variant	1215	exon2			.		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.166delA	14.37:g.24976605delT	ENSP00000250378:p.Ile56fs	Somatic	147	.	.		WXS	Illumina HiSeq	Phase_I	120	39	0.325	NM_001836	B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Frame_Shift_Del	DEL	ENST00000250378.3	37	CCDS9630.1																																																																																			.	.	none		0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			-	24976605	T	-	24976605	7	5	22	1	0	1	0	1	0	0	0	0	3574	1406	49	0	593	0	CMA1	14	24976605	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	78470	24976605	82372935	7331	12439										
CTSG	1511	hgsc.bcm.edu	37	chr14	25045386	25045386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcactcacctgcctcagccCcagtgggtaggagaaaggcc	12	14	3	1	rs61737123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:25045386C>G	ENST00000216336.2	-	1	80	c.44G>C	c.(43-45)gGg>gCg	p.G15A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	15					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCCTCAGCCCCAGTGGGTAG	0.527													C|||	68	0.0135783	0.0492	0.0043	5008	,	,		18510	0.0		0.0	False		,,,				2504	0.0				p.G15A		Atlas-SNP	.											.	CTSG	63	.	0			c.G44C						PASS	.	C	ALA/GLY	228,4178	128.6+/-165.4	7,214,1982	63	54	57		44	1.1	0	14	dbSNP_129	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CTSG	NM_001911.2	60	7,216,6280	GG,GC,CC		0.0233,5.1748,1.7684	probably-damaging	15/256	25045386	230,12776	2203	4300	6503	SO:0001583	missense	1511	exon1			TCAGCCCCAGTGG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.44G>C	14.37:g.25045386C>G	ENSP00000216336:p.Gly15Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_001911	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	c	11.21	1.572963	0.28092	0.051748	2.33E-4	ENSG00000100448	ENST00000216336	D	0.92752	-3.1	5.29	1.14	0.20703	Peptidase cysteine/serine, trypsin-like (1);	0.801389	0.10545	N	0.662150	T	0.49406	0.1555	L	0.28400	0.85	0.09310	N	1	B	0.25312	0.123	B	0.21360	0.034	T	0.57774	-0.7753	10	0.06236	T	0.91	.	6.4789	0.22051	0.0:0.6773:0.1397:0.1829	rs61737123	15	P08311	CATG_HUMAN	A	15	ENSP00000216336:G15A	ENSP00000216336:G15A	G	-	2	0	CTSG	24115226	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.884000	0.28214	0.309000	0.22966	0.655000	0.94253	GGG	C|0.969;G|0.031	0.031	strong		0.527	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		G	25045386	C	G	25045386	3	3	22	1	0	0	0	0	1	0	0	0	4035	623	22	4	743	4	CTSG	14	25045386	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68781	25045386	82304154	7332	12440										
NOVA1	4857	hgsc.bcm.edu	37	chr14	26917826	26917826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggttagcatgtcctaatAgccctgcagctgctgcagca	10	12	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:26917826A>G	ENST00000539517.2	-	5	1180	c.863T>C	c.(862-864)cTa>cCa	p.L288P	NOVA1_ENST00000465357.2_Missense_Mutation_p.L264P|NOVA1_ENST00000267422.7_Missense_Mutation_p.L166P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	291	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGTCCTAATAGCCCTGCAGC	0.498																																					p.L288P		Atlas-SNP	.											NOVA1,NS,carcinoma,-1,1	NOVA1	146	1	0			c.T863C						scavenged	.						84	79	80					14																	26917826		2203	4300	6503	SO:0001583	missense	4857	exon5			CCTAATAGCCCTG	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.863T>C	14.37:g.26917826A>G	ENSP00000438875:p.Leu288Pro	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	143	2	0.013986	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349631	0.41599	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.35421	1.39;1.34;1.35;1.31	5.93	5.93	0.95920	.	0.218253	0.31589	N	0.007393	T	0.50188	0.1601	L	0.38838	1.175	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.997	D;D;D	0.80764	0.991;0.986;0.994	T	0.38779	-0.9645	10	0.31617	T	0.26	-5.5399	16.3756	0.83387	1.0:0.0:0.0:0.0	.	291;264;288	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	P	264;288;166;247	ENSP00000447391:L264P;ENSP00000438875:L288P;ENSP00000267422:L166P;ENSP00000408914:L247P	ENSP00000267422:L166P	L	-	2	0	NOVA1	25987666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.297000	0.96120	2.270000	0.75569	0.460000	0.39030	CTA	.	.	none		0.498	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		G	26917826	A	G	26917826	3	3	22	1	0	0	0	0	1	0	0	0	10554	420	15	3	664	3	NOVA1	14	26917826	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1872440	26917826	80431714	7333	12441										
STRN3	29966	hgsc.bcm.edu	37	chr14	31364948	31364948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctaccatagaatggatcAttttacctaaacaaaacata	5	8	1	1	rs114922597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:31364948A>G	ENST00000357479.5	-	17	2340	c.2144T>C	c.(2143-2145)aTg>aCg	p.M715T	STRN3_ENST00000355683.5_Missense_Mutation_p.M631T	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	715					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGAATGGATCATTTTACCTAA	0.333													A|||	40	0.00798722	0.0287	0.0029	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0				p.M715T		Atlas-SNP	.											.	STRN3	117	.	0			c.T2144C						PASS	.	A	THR/MET,THR/MET	117,4289	89.7+/-128.4	2,113,2088	63	58	60		2144,1892	4.6	1	14	dbSNP_132	60	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	STRN3	NM_001083893.1,NM_014574.3	81,81	2,115,6386	GG,GA,AA		0.0233,2.6555,0.915	benign,benign	715/798,631/714	31364948	119,12887	2203	4300	6503	SO:0001583	missense	29966	exon17			TGGATCATTTTAC		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2144T>C	14.37:g.31364948A>G	ENSP00000350071:p.Met715Thr	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	134	54	0.402985	NM_001083893	A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	A	10.37	1.331773	0.24167	0.026555	2.33E-4	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.59502	0.26;0.26	5.77	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.332419	0.39985	N	0.001209	T	0.12518	0.0304	N	0.04090	-0.28	0.37999	D	0.934155	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11275	-1.0594	10	0.46703	T	0.11	0.4649	7.2945	0.26385	0.7812:0.1462:0.0726:0.0	.	631;715	Q13033-2;Q13033	.;STRN3_HUMAN	T	631;715	ENSP00000347909:M631T;ENSP00000350071:M715T	ENSP00000347909:M631T	M	-	2	0	STRN3	30434699	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.949000	0.49074	2.204000	0.70986	0.383000	0.25322	ATG	A|0.990;G|0.010	0.010	strong		0.333	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		G	31364948	A	G	31364948	3	3	22	1	0	0	0	0	1	0	0	0	15329	217	8	2	257	2	STRN3	14	31364948	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4447122	31364948	75984592	7334	12442										
HECTD1	25831	hgsc.bcm.edu	37	chr14	31578762	31578762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcttgtggttctcgttcgCtccacagtggcttcacgtcg	11	13	2	0	rs17097735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:31578762C>T	ENST00000399332.1	-	36	6809	c.6321G>A	c.(6319-6321)gaG>gaA	p.E2107E	HECTD1_ENST00000553700.1_Silent_p.E2107E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2107					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCTCGTTCGCTCCACAGTGG	0.458													T|||	1463	0.292133	0.5038	0.1585	5008	,	,		17990	0.2897		0.1064	False		,,,				2504	0.2945				p.E2107E		Atlas-SNP	.											.	HECTD1	159	.	0			c.G6321A						PASS	.	T		1657,2387		359,939,724	90	90	90		6321	3.2	1	14	dbSNP_123	90	1068,7304		59,950,3177	no	coding-synonymous	HECTD1	NM_015382.2		418,1889,3901	TT,TC,CC		12.7568,40.9743,21.9475		2107/2611	31578762	2725,9691	2022	4186	6208	SO:0001819	synonymous_variant	25831	exon36			CGTTCGCTCCACA	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6321G>A	14.37:g.31578762C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	155	67	0.432258	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1	535	0.24496336996336995	235	0.47764227642276424	59	0.16298342541436464	167	0.291958041958042	74	0.09762532981530343	T	9.054	0.992889	0.18966	0.409743	0.127568	ENSG00000092148	ENST00000554882	.	.	.	5.56	3.24	0.37175	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.48269	-0.9050	3	.	.	.	-14.6745	8.8967	0.35470	0.0:0.3664:0.0:0.6335	rs17097735;rs17097735	.	.	.	N	473	.	.	S	-	2	0	HECTD1	30648513	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.082000	0.30803	0.103000	0.17682	-0.550000	0.04213	AGC	C|0.750;T|0.250	0.250	strong		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31578762	C	T	31578762	2	4	22	1	0	0	0	0	0	0	0	1	7039	796	28	2		2	HECTD1	14	31578762	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	213814	31578762	75770778	7335	12443										
HECTD1	25831	hgsc.bcm.edu	37	chr14	31619392	31619392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgatatggtttaccttgTtgcaattctttagcatcttc	6	8	2	1	rs11620816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:31619392T>C	ENST00000399332.1	-	13	2456	c.1968A>G	c.(1966-1968)caA>caG	p.Q656Q	HECTD1_ENST00000553700.1_Silent_p.Q656Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	656			Q -> H (in dbSNP:rs11620816).		neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTACCTTGTTGCAATTCTT	0.338													C|||	1468	0.293131	0.5053	0.1585	5008	,	,		17711	0.2907		0.1074	False		,,,				2504	0.2955				p.Q656Q		Atlas-SNP	.											.	HECTD1	159	.	0			c.A1968G						PASS	.	C		1599,2143		354,891,626	250	232	238		1968	6	1	14	dbSNP_120	238	1060,7164		60,940,3112	no	coding-synonymous	HECTD1	NM_015382.2		414,1831,3738	CC,CT,TT		12.8891,42.7312,22.2213		656/2611	31619392	2659,9307	1871	4112	5983	SO:0001819	synonymous_variant	25831	exon13			ACCTTGTTGCAAT	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1968A>G	14.37:g.31619392T>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	184	79	0.429348	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1																																																																																			C|0.246;T|0.754	0.246	strong		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			C	31619392	T	C	31619392	2	2	22	1	0	0	0	0	0	0	0	1	7039	1722	60	2		2	HECTD1	14	31619392	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40630	31619392	75730148	7336	12444										
AKAP6	9472	hgsc.bcm.edu	37	chr14	33014869	33014869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagctctgacaaatgctgCtcaaccctcctctgagactg	8	13	3	3	rs3742926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:33014869C>T	ENST00000280979.4	+	4	1180	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	AKAP6_ENST00000557354.1_Missense_Mutation_p.A337V|AKAP6_ENST00000557272.1_Missense_Mutation_p.A337V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	337			A -> V (in dbSNP:rs3742926).		action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAAATGCTGCTCAACCCTCC	0.493													T|||	881	0.175919	0.233	0.1859	5008	,	,		20444	0.1815		0.1004	False		,,,				2504	0.1636				p.A337V	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.C1010T						PASS	.	T	VAL/ALA	887,3519	741.1+/-411.2	78,731,1394	73	64	67		1010	-5	0	14	dbSNP_107	67	804,7796	781.9+/-407.6	37,730,3533	yes	missense	AKAP6	NM_004274.4	64	115,1461,4927	TT,TC,CC		9.3488,20.1316,13.0017	benign	337/2320	33014869	1691,11315	2203	4300	6503	SO:0001583	missense	9472	exon4			ATGCTGCTCAACC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1010C>T	14.37:g.33014869C>T	ENSP00000280979:p.Ala337Val	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	121	76	0.628099	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	367	0.16804029304029305	121	0.2459349593495935	62	0.1712707182320442	97	0.16958041958041958	87	0.11477572559366754	T	0.013	-1.629818	0.00813	0.201316	0.093488	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.61	-4.96	0.03038	.	1.589520	0.03277	N	0.185626	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29458	-1.0011	9	0.16420	T	0.52	1.892	0.6198	0.00776	0.2906:0.2271:0.3018:0.1805	rs3742926;rs52801792;rs61666772;rs3742926	337;337	A7E242;Q13023	.;AKAP6_HUMAN	V	337;337;337;95	ENSP00000280979:A337V;ENSP00000450531:A337V;ENSP00000451247:A337V;ENSP00000451239:A95V	ENSP00000280979:A337V	A	+	2	0	AKAP6	32084620	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.734000	0.04893	-0.707000	0.05022	-0.254000	0.11334	GCT	C|0.859;T|0.141	0.141	strong		0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33014869	C	T	33014869	3	4	22	1	0	0	0	0	1	0	0	0	455	797	28	2	1020	2	AKAP6	14	33014869	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1395477	33014869	74334671	7337	12445										
EAPP	55837	hgsc.bcm.edu	37	chr14	34985645	34985645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatctgtctctgccttctcGgcagcatcttcccggttaga	8	14	4	1	rs7797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:34985645G>A	ENST00000250454.3	-	6	810	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	243					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTGCCTTCTCGGCAGCATCTT	0.448													G|||	1387	0.276957	0.2897	0.219	5008	,	,		18456	0.1905		0.3678	False		,,,				2504	0.2965				p.A243A		Atlas-SNP	.											.	EAPP	28	.	0			c.C729T						PASS	.	G		1303,2659		223,857,901	242	239	240		729	-3	0	14	dbSNP_52	240	3090,5210		569,1952,1629	no	coding-synonymous	EAPP	NM_018453.3		792,2809,2530	AA,AG,GG		37.2289,32.8874,35.8261		243/286	34985645	4393,7869	1981	4150	6131	SO:0001819	synonymous_variant	55837	exon6			CTTCTCGGCAGCA	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.729C>T	14.37:g.34985645G>A		Somatic	298	1	0.0033557		WXS	Illumina HiSeq	Phase_I	260	145	0.557692	NM_018453	Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	37	CCDS41941.1																																																																																			G|0.697;A|0.303	0.303	strong		0.448	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		A	34985645	G	A	34985645	2	1	22	1	0	0	0	0	0	0	0	1	4877	1103	39	1		1	EAPP	14	34985645	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1970776	34985645	72363895	7338	12446										
RALGAPA1	253959	hgsc.bcm.edu	37	chr14	36153177	36153177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacgtaaccccagtgtcggTtccaaagccaaaatctatag	9	11	1	0	rs2274068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:36153177T>C	ENST00000389698.3	-	20	3181	c.2791A>G	c.(2791-2793)Acc>Gcc	p.T931A	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T931A|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T978A|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T944A	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	931			T -> A (in dbSNP:rs2274068). {ECO:0000269|PubMed:19520869}.		activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAGTGTCGGTTCCAAAGCCA	0.393													C|||	2373	0.473842	0.7557	0.2277	5008	,	,		16999	0.5804		0.1918	False		,,,				2504	0.4479				p.T931A		Atlas-SNP	.											.	RALGAPA1	289	.	0			c.A2791G						PASS	.	C	ALA/THR,ALA/THR	2911,1495	472.0+/-356.2	977,957,269	44	54	51		2791,2791	1.6	1	14	dbSNP_100	51	1527,7073	744.4+/-407.2	155,1217,2928	yes	missense,missense	RALGAPA1	NM_014990.1,NM_194301.2	58,58	1132,2174,3197	CC,CT,TT		17.7558,33.931,34.1227	benign,benign	931/2037,931/2084	36153177	4438,8568	2203	4300	6503	SO:0001583	missense	253959	exon20			TGTCGGTTCCAAA	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2791A>G	14.37:g.36153177T>C	ENSP00000374348:p.Thr931Ala	Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	175	175	1	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	953	0.43635531135531136	353	0.717479674796748	106	0.292817679558011	350	0.6118881118881119	144	0.18997361477572558	C	0.993	-0.693402	0.03303	0.66069	0.177558	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.26;-3.27	5.46	1.57	0.23409	.	0.641598	0.15948	N	0.236867	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.45775	-0.9238	9	0.16420	T	0.52	-0.4299	6.214	0.20646	0.0:0.4158:0.1279:0.4563	rs2274068;rs52819701;rs57932556;rs2274068	978;944;978;931;931	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	A	931;931;931;978;944;978	ENSP00000374348:T931A;ENSP00000302647:T931A;ENSP00000258840:T978A;ENSP00000371803:T944A;ENSP00000451877:T978A	ENSP00000258840:T978A	T	-	1	0	RALGAPA1	35222928	0.959000	0.32827	0.984000	0.44739	0.864000	0.49448	0.203000	0.17315	0.025000	0.15241	-0.197000	0.12766	ACC	T|0.603;C|0.397	0.397	strong		0.393	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36153177	T	C	36153177	3	2	22	1	0	0	0	0	1	0	0	0	13013	1725	60	2	3556	2	RALGAPA1	14	36153177	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1167532	36153177	71196363	7339	12447										
RALGAPA1	253959	hgsc.bcm.edu	37	chr14	36191030	36191030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaatgacttgtcaactgaAactttctgaaattcatgtcc	6	8	3	3	rs2296168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:36191030A>G	ENST00000389698.3	-	16	2520	c.2130T>C	c.(2128-2130)gtT>gtC	p.V710V	RALGAPA1_ENST00000307138.6_Silent_p.V710V|RALGAPA1_ENST00000382366.3_Silent_p.V710V|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Silent_p.V710V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	710					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCAACTGAAACTTTCTGAA	0.423													A|||	793	0.158347	0.1392	0.0677	5008	,	,		18289	0.3978		0.0408	False		,,,				2504	0.1227				p.V710V		Atlas-SNP	.											.	RALGAPA1	289	.	0			c.T2130C						PASS	.	A	,	625,3781	268.6+/-268.5	43,539,1621	82	79	80		2130,2130	-0.2	1	14	dbSNP_100	80	384,8216	125.0+/-183.6	13,358,3929	no	coding-synonymous,coding-synonymous	RALGAPA1	NM_014990.1,NM_194301.2	,	56,897,5550	GG,GA,AA		4.4651,14.1852,7.758	,	710/2037,710/2084	36191030	1009,11997	2203	4300	6503	SO:0001819	synonymous_variant	253959	exon16			AACTGAAACTTTC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2130T>C	14.37:g.36191030A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	108	49	0.453704	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	CCDS32065.1																																																																																			A|0.890;G|0.110	0.110	strong		0.423	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		G	36191030	A	G	36191030	2	3	22	1	0	0	0	0	0	0	0	1	13013	1	1	2		2	RALGAPA1	14	36191030	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37853	36191030	71158510	7340	12448										
SSTR1	6751	hgsc.bcm.edu	37	chr14	38679473	38679473	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctacgtggtgcagctggtCaacgtgtttgctgagcagga	14	8	2	1	rs2228497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:38679473C>T	ENST00000267377.2	+	3	1496	c.879C>T	c.(877-879)gtC>gtT	p.V293V		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	293					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TGCAGCTGGTCAACGTGTTTG	0.562													C|||	1031	0.205871	0.115	0.2205	5008	,	,		20321	0.0685		0.3082	False		,,,				2504	0.3548				p.V293V		Atlas-SNP	.											.	SSTR1	66	.	0			c.C879T						PASS	.	C		596,3810	261.9+/-264.6	41,514,1648	140	120	127		879	0.5	1	14	dbSNP_98	127	2732,5868	435.9+/-358.1	435,1862,2003	no	coding-synonymous	SSTR1	NM_001049.2		476,2376,3651	TT,TC,CC		31.7674,13.527,25.5882		293/392	38679473	3328,9678	2203	4300	6503	SO:0001819	synonymous_variant	6751	exon3			GCTGGTCAACGTG		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.879C>T	14.37:g.38679473C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_001049		Silent	SNP	ENST00000267377.2	37	CCDS9666.1																																																																																			C|0.772;T|0.228	0.228	strong		0.562	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			T	38679473	C	T	38679473	2	4	22	1	0	0	0	0	0	0	0	1	15196	813	29	2		2	SSTR1	14	38679473	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2488443	38679473	68670067	7341	12449										
CLEC14A	161198	hgsc.bcm.edu	37	chr14	38724043	38724043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatgaagaccacggcagaGgaggagtcgaaagcctgagg	15	7	0	4	rs530380827|rs78287081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:38724043G>A	ENST00000342213.2	-	1	1531	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	395						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCACGGCAGAGGAGGAGTCGA	0.502													G|||	44	0.00878594	0.0333	0.0	5008	,	,		19714	0.0		0.0	False		,,,				2504	0.0				p.S395S		Atlas-SNP	.											.	CLEC14A	83	.	0			c.C1185T						PASS	.	G		119,4287	88.2+/-126.9	2,115,2086	52	49	50		1185	-0.7	0.9	14	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC14A	NM_175060.1		2,116,6385	AA,AG,GG		0.0116,2.7009,0.9227		395/491	38724043	120,12886	2203	4300	6503	SO:0001819	synonymous_variant	161198	exon1			GGCAGAGGAGGAG		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1185C>T	14.37:g.38724043G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																			G|0.992;A|0.008	0.008	strong		0.502	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38724043	G	A	38724043	2	1	22	1	0	0	0	0	0	0	0	1	3499	987	35	2		2	CLEC14A	14	38724043	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44570	38724043	68625497	7342	12450										
MIA2	117153	hgsc.bcm.edu	37	chr14	39703324	39703324	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgcttgttttagcatggcAaaatttggcgttcacagaat	10	6	1	1	rs7141840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:39703324A>G	ENST00000280082.3	+	1	205	c.6A>G	c.(4-6)gcA>gcG	p.A2A	MIA2_ENST00000556784.1_Silent_p.A2A|RP11-407N17.3_ENST00000553728.1_Silent_p.A2A	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	2					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTAGCATGGCAAAATTTGGCG	0.423													G|||	3004	0.59984	0.8616	0.5029	5008	,	,		16921	0.6548		0.4742	False		,,,				2504	0.3875				p.A2A		Atlas-SNP	.											.	MIA2	82	.	0			c.A6G						PASS	.	G		3614,792	317.2+/-295.0	1495,624,84	94	89	91		6	3.3	0.4	14	dbSNP_116	91	4174,4426	586.5+/-392.1	1019,2136,1145	no	coding-synonymous	MIA2	NM_054024.3		2514,2760,1229	GG,GA,AA		48.5349,17.9755,40.1199		2/655	39703324	7788,5218	2203	4300	6503	SO:0001819	synonymous_variant	117153	exon1			CATGGCAAAATTT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.6A>G	14.37:g.39703324A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_054024	A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	37	CCDS9672.1																																																																																			A|0.389;G|0.611	0.611	strong		0.423	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		G	39703324	A	G	39703324	2	3	22	1	0	0	0	0	0	0	0	1	9564	117	5	2		2	MIA2	14	39703324	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	979281	39703324	67646216	7343	12451										
MIA2	117153	hgsc.bcm.edu	37	chr14	39717002	39717002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgaagaagatggtggggcAgatgaacatgaacatcctct	12	6	1	6	rs17109049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:39717002A>G	ENST00000280082.3	+	4	1423	c.1224A>G	c.(1222-1224)gcA>gcG	p.A408A	MIA2_ENST00000556784.1_Silent_p.A407A|RP11-407N17.3_ENST00000553728.1_Silent_p.A408A	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	408					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGGTGGGGCAGATGAACATG	0.333													A|||	380	0.0758786	0.2769	0.0202	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0				p.A408A		Atlas-SNP	.											.	MIA2	82	.	0			c.A1224G						PASS	.	A		1093,3313	385.1+/-325.6	116,861,1226	74	79	77		1224	3.1	0	14	dbSNP_123	77	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	MIA2	NM_054024.3		116,872,5515	GG,GA,AA		0.1279,24.8071,8.4884		408/655	39717002	1104,11902	2203	4300	6503	SO:0001819	synonymous_variant	117153	exon4			TGGGGCAGATGAA	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1224A>G	14.37:g.39717002A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_054024	A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	37	CCDS9672.1																																																																																			A|0.921;G|0.079	0.079	strong		0.333	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		G	39717002	A	G	39717002	2	3	22	1	0	0	0	0	0	0	0	1	9564	175	7	3		3	MIA2	14	39717002	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13678	39717002	67632538	7344	12452										
MIA2	117153	hgsc.bcm.edu	37	chr14	39722023	39722023	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaaccctcatcttctaaaGatagtgatgaaaattcgaaa	6	7	3	4	rs10134365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:39722023G>C	ENST00000280082.3	+	5	1838	c.1639G>C	c.(1639-1641)Gat>Cat	p.D547H	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.D547Y(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATCTTCTAAAGATAGTGATGA	0.368													G|||	1556	0.310703	0.4039	0.2032	5008	,	,		17147	0.502		0.2127	False		,,,				2504	0.1646				p.D547H		Atlas-SNP	.											MIA2,rectum,carcinoma,0,1	MIA2	82	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1639C						PASS	.	G	HIS/ASP	1763,2643	515.5+/-368.9	359,1045,799	85	94	91		1639	-0.7	0.5	14	dbSNP_119	91	1801,6797	320.9+/-314.9	161,1479,2659	yes	missense	MIA2	NM_054024.3	81	520,2524,3458	CC,CG,GG		20.9467,40.0136,27.407	benign	547/655	39722023	3564,9440	2203	4299	6502	SO:0001583	missense	117153	exon5			TCTAAAGATAGTG	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1639G>C	14.37:g.39722023G>C	ENSP00000280082:p.Asp547His	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	685	0.31364468864468864	163	0.3313008130081301	78	0.2154696132596685	292	0.5104895104895105	152	0.20052770448548812	G	7.156	0.584811	0.13749	0.400136	0.209467	ENSG00000150526	ENST00000280082	T	0.46063	0.88	4.81	-0.683	0.11335	.	0.655352	0.12592	N	0.455473	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.09377	0.004	T	0.48525	-0.9028	7	.	.	.	.	4.2613	0.10742	0.4232:0.193:0.3839:0.0	rs10134365;rs52801113;rs60244623;rs10134365	547	Q96PC5-2	.	H	547	ENSP00000280082:D547H	.	D	+	1	0	MIA2	38791774	0.010000	0.17322	0.513000	0.27749	0.256000	0.26092	0.925000	0.28791	0.295000	0.22570	-0.438000	0.05819	GAT	G|0.714;C|0.286	0.286	strong		0.368	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		C	39722023	G	C	39722023	3	2	22	1	0	0	0	0	1	0	0	0	9564	942	33	4	1657	4	MIA2	14	39722023	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5021	39722023	67627517	7345	12453										
CTAGE5	4253	hgsc.bcm.edu	37	chr14	39736693	39736693	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggggttacccctcaaccGtatttggggctgctcctgga	12	14	1	0	rs34909359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:39736693G>T	ENST00000280083.3	+	1	344	c.30G>T	c.(28-30)ccG>ccT	p.P10P	RP11-407N17.5_ENST00000553520.1_RNA|CTAGE5_ENST00000341749.3_Intron|CTAGE5_ENST00000556148.1_5'UTR|CTAGE5_ENST00000396165.4_Intron|RP11-407N17.3_ENST00000603904.1_Intron|RP11-407N17.5_ENST00000605298.1_RNA|RP11-407N17.3_ENST00000553728.1_Intron|CTAGE5_ENST00000557038.1_Intron|CTAGE5_ENST00000348007.3_Silent_p.P10P|CTAGE5_ENST00000396158.2_Silent_p.P10P|CTAGE5_ENST00000341502.5_Silent_p.P10P			O15320	CTGE5_HUMAN	CTAGE family, member 5	10					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCCCTCAACCGTATTTGGGGC	0.662													G|||	100	0.0199681	0.0711	0.0086	5008	,	,		16634	0.0		0.0	False		,,,				2504	0.0				p.P10P		Atlas-SNP	.											.	CTAGE5	75	.	0			c.G30T						PASS	.	G	,,,	285,4121	149.2+/-183.4	6,273,1924	31	33	32		30,,30,	2.4	0	14	dbSNP_126	32	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron,coding-synonymous,intron	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	,,,	6,275,6222	TT,TG,GG		0.0233,6.4685,2.2067	,,,	10/805,,10/762,	39736693	287,12719	2203	4300	6503	SO:0001819	synonymous_variant	4253	exon1			TCAACCGTATTTG	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.30G>T	14.37:g.39736693G>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	73	33	0.452055	NM_001247989	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																			G|0.979;T|0.021	0.021	strong		0.662	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		T	39736693	G	T	39736693	2	4	22	1	0	0	0	0	0	0	0	1	3994	1132	40	4		4	CTAGE5	14	39736693	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14670	39736693	67612847	7346	12454										
FBXO33	254170	hgsc.bcm.edu	37	chr14	39871017	39871017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaacccacaggacagccaTttcagttgcctactattact	5	12	1	0	rs7156962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:39871017T>C	ENST00000298097.7	-	3	1096	c.759A>G	c.(757-759)aaA>aaG	p.K253K	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	253					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AGGACAGCCATTTCAGTTGCC	0.413													T|||	885	0.176717	0.3457	0.0879	5008	,	,		19732	0.0724		0.1213	False		,,,				2504	0.1759				p.K253K		Atlas-SNP	.											.	FBXO33	21	.	0			c.A759G						PASS	.	T		1470,2936	470.9+/-355.9	217,1036,950	70	72	71		759	-0.3	1	14	dbSNP_116	71	884,7716	197.5+/-242.1	42,800,3458	no	coding-synonymous	FBXO33	NM_203301.3		259,1836,4408	CC,CT,TT		10.2791,33.3636,18.0993		253/556	39871017	2354,10652	2203	4300	6503	SO:0001819	synonymous_variant	254170	exon3			CAGCCATTTCAGT	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.759A>G	14.37:g.39871017T>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_203301	Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	CCDS9677.1																																																																																			T|0.825;C|0.175	0.175	strong		0.413	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			C	39871017	T	C	39871017	2	2	22	1	0	0	0	0	0	0	0	1	5743	1490	52	2		2	FBXO33	14	39871017	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	134324	39871017	67478523	7347	12455										
FSCB	84075	hgsc.bcm.edu	37	chr14	44974966	44974966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggctctactttagctgGggcctcttcaagggcgccct	14	12	3	0	rs1959379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:44974966G>A	ENST00000340446.4	-	1	1516	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	409	Pro-rich.		P -> S (in dbSNP:rs1959379). {ECO:0000269|PubMed:15489334}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTTTAGCTGGGGCCTCTTCA	0.517													G|||	1358	0.271166	0.2859	0.3055	5008	,	,		17836	0.3968		0.1193	False		,,,				2504	0.2536				p.P409S		Atlas-SNP	.											.	FSCB	173	.	0			c.C1225T						PASS	.	G	SER/PRO	1149,3249		151,847,1201	39	44	42		1225	-8.3	0	14	dbSNP_92	42	933,7661		53,827,3417	yes	missense	FSCB	NM_032135.3	74	204,1674,4618	AA,AG,GG		10.8564,26.1255,16.0252	possibly-damaging	409/826	44974966	2082,10910	2199	4297	6496	SO:0001583	missense	84075	exon1			TAGCTGGGGCCTC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1225C>T	14.37:g.44974966G>A	ENSP00000344579:p.Pro409Ser	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	135	61	0.451852	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	542	0.24816849816849818	138	0.2804878048780488	97	0.26795580110497236	223	0.38986013986013984	84	0.11081794195250659	G	6.900	0.535552	0.13188	0.261255	0.108564	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.19806	2.12	4.49	-8.33	0.00992	.	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.44711	-0.9310	8	0.31617	T	0.26	1.5439	3.3091	0.07010	0.4878:0.176:0.2415:0.0947	rs1959379;rs3825631;rs17855637;rs52807156;rs1959379	409	Q5H9T9	FSCB_HUMAN	S	409	ENSP00000344579:P409S	ENSP00000344579:P409S	P	-	1	0	FSCB	44044716	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.632000	0.00870	-1.724000	0.01373	-0.783000	0.03347	CCA	G|0.811;A|0.189	0.189	strong		0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44974966	G	A	44974966	3	1	22	1	0	0	0	0	1	0	0	0	6066	1232	43	2	1256	2	FSCB	14	44974966	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5103949	44974966	62374574	7348	12456										
FSCB	84075	hgsc.bcm.edu	37	chr14	44975052	44975052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaccgaatttcaccaagaAgctctactgaaggagacttt	9	9	2	4	rs3825630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:44975052A>G	ENST00000340446.4	-	1	1430	c.1139T>C	c.(1138-1140)cTt>cCt	p.L380P	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	380	Pro-rich.		L -> P (in dbSNP:rs3825630). {ECO:0000269|PubMed:15489334}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.L380P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCACCAAGAAGCTCTACTGA	0.522													A|||	1358	0.271166	0.2859	0.3055	5008	,	,		18322	0.3968		0.1193	False		,,,				2504	0.2536				p.L380P		Atlas-SNP	.											FSCB,NS,carcinoma,0,1	FSCB	173	1	1	Substitution - Missense(1)	stomach(1)	c.T1139C						scavenged	.	A	PRO/LEU	1168,3238	363.6+/-316.6	160,848,1195	88	101	97		1139	-0.2	0	14	dbSNP_107	97	938,7662	196.9+/-241.7	50,838,3412	yes	missense	FSCB	NM_032135.3	98	210,1686,4607	GG,GA,AA		10.907,26.5093,16.1925	probably-damaging	380/826	44975052	2106,10900	2203	4300	6503	SO:0001583	missense	84075	exon1			CCAAGAAGCTCTA	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1139T>C	14.37:g.44975052A>G	ENSP00000344579:p.Leu380Pro	Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	148	65	0.439189	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	542	0.24816849816849818	138	0.2804878048780488	97	0.26795580110497236	223	0.38986013986013984	84	0.11081794195250659	a	4.879	0.163307	0.09287	0.265093	0.10907	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17528	2.27	3.87	-0.16	0.13375	.	.	.	.	.	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.11235	0.004	B	0.08055	0.003	T	0.48502	-0.9030	8	0.30078	T	0.28	.	6.2119	0.20633	0.5846:0.0:0.4154:0.0	rs3825630;rs17855636;rs58475266;rs3825630	380	Q5H9T9	FSCB_HUMAN	P	380	ENSP00000344579:L380P	ENSP00000344579:L380P	L	-	2	0	FSCB	44044802	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.903000	0.04084	-0.139000	0.11414	-0.479000	0.04858	CTT	A|0.796;G|0.204	0.204	strong		0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44975052	A	G	44975052	3	3	22	1	0	0	0	0	1	0	0	0	6066	72	3	3	1342	3	FSCB	14	44975052	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86	44975052	62374488	7349	12457										
FSCB	84075	hgsc.bcm.edu	37	chr14	44975606	44975606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgctggttgaaattcaggGtgttcactagcaaaaatctt	10	6	3	1	rs3809429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:44975606G>T	ENST00000340446.4	-	1	876	c.585C>A	c.(583-585)caC>caA	p.H195Q	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	195			H -> Q (in dbSNP:rs3809429). {ECO:0000269|PubMed:15489334}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.H195Q(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAAATTCAGGGTGTTCACTAG	0.403													G|||	1360	0.271565	0.2859	0.3055	5008	,	,		19485	0.3968		0.1193	False		,,,				2504	0.2556				p.H195Q		Atlas-SNP	.											FSCB,NS,carcinoma,0,1	FSCB	173	1	1	Substitution - Missense(1)	stomach(1)	c.C585A						PASS	.	G	GLN/HIS	1185,3221	414.8+/-337.0	157,871,1175	134	140	138		585	-2.3	0.3	14	dbSNP_107	138	947,7653	206.5+/-248.5	50,847,3403	yes	missense	FSCB	NM_032135.3	24	207,1718,4578	TT,TG,GG		11.0116,26.8951,16.3924	probably-damaging	195/826	44975606	2132,10874	2203	4300	6503	SO:0001583	missense	84075	exon1			TTCAGGGTGTTCA	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.585C>A	14.37:g.44975606G>T	ENSP00000344579:p.His195Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	137	66	0.481752	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	542	0.24816849816849818	138	0.2804878048780488	97	0.26795580110497236	223	0.38986013986013984	84	0.11081794195250659	G	9.402	1.078233	0.20227	0.268951	0.110116	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24350	1.86	4.2	-2.28	0.06826	.	.	.	.	.	T	0.00012	0.0000	L	0.53249	1.67	0.58432	P	1.0000000000287557E-6	P	0.37573	0.6	B	0.38500	0.275	T	0.43798	-0.9369	8	0.19590	T	0.45	-3.8899	4.8286	0.13428	0.5279:0.1605:0.3116:0.0	rs3809429;rs17846266;rs17859288;rs52805697;rs61689159;rs3809429	195	Q5H9T9	FSCB_HUMAN	Q	195	ENSP00000344579:H195Q	ENSP00000344579:H195Q	H	-	3	2	FSCB	44045356	0.026000	0.19158	0.284000	0.24805	0.229000	0.25112	-0.134000	0.10436	-0.303000	0.08856	-2.303000	0.00259	CAC	G|0.789;T|0.211	0.211	strong		0.403	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		T	44975606	G	T	44975606	3	4	22	1	0	0	0	0	1	0	0	0	6066	1252	44	4	1896	4	FSCB	14	44975606	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	554	44975606	62373934	7350	12458										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45431636	45431636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaccctgcatggcggctgcCccctccgcgctgcttctgct	10	19	1	0	rs141982460	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45431636C>T	ENST00000361577.3	+	1	226	c.12C>T	c.(10-12)gcC>gcT	p.A4A	FAM179B_ENST00000382233.2_Silent_p.A4A|FAM179B_ENST00000361462.2_Silent_p.A4A|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	4										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGCGGCTGCCCCCTCCGCGC	0.617													C|||	4	0.000798722	0.003	0.0	5008	,	,		16675	0.0		0.0	False		,,,				2504	0.0				p.A4A		Atlas-SNP	.											.	FAM179B	115	.	0			c.C12T						PASS	.	C		24,4370		0,24,2173	21	24	23		12	0.9	0.3	14	dbSNP_134	23	0,8568		0,0,4284	no	coding-synonymous	FAM179B	NM_015091.2		0,24,6457	TT,TC,CC		0.0,0.5462,0.1852		4/1721	45431636	24,12938	2197	4284	6481	SO:0001819	synonymous_variant	23116	exon1			GGCTGCCCCCTCC	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.12C>T	14.37:g.45431636C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_015091	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																			C|0.998;T|0.002	0.002	strong		0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		T	45431636	C	T	45431636	2	4	22	1	0	0	0	0	0	0	0	1	5506	610	22	2		2	FAM179B	14	45431636	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	456030	45431636	61917904	7351	12459										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45432870	45432870	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtggtgcatggcacacttGaagtcctgcatttactggtt	11	8	0	1	rs3825629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45432870G>C	ENST00000361577.3	+	1	1460	c.1246G>C	c.(1246-1248)Gaa>Caa	p.E416Q	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.E416Q|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E416Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	416			E -> Q (in dbSNP:rs3825629).							endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGCACACTTGAAGTCCTGCA	0.428													C|||	943	0.188299	0.4637	0.0879	5008	,	,		8589	0.1022		0.0626	False		,,,				2504	0.1053				p.E416Q		Atlas-SNP	.											.	FAM179B	115	.	0			c.G1246C						PASS	.	C	GLN/GLU	1661,2745	657.7+/-400.3	302,1057,844	105	106	106		1246	4.3	1	14	dbSNP_107	106	471,8129	798.2+/-407.4	14,443,3843	yes	missense	FAM179B	NM_015091.2	29	316,1500,4687	CC,CG,GG		5.4767,37.6986,16.3924	benign	416/1721	45432870	2132,10874	2203	4300	6503	SO:0001583	missense	23116	exon1			ACACTTGAAGTCC	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1246G>C	14.37:g.45432870G>C	ENSP00000355045:p.Glu416Gln	Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	23	15	0.652174	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	367	0.16804029304029305	222	0.45121951219512196	34	0.09392265193370165	57	0.09965034965034965	54	0.0712401055408971	C	0.399	-0.919512	0.02396	0.376986	0.054767	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38887	1.11;1.11;1.11	4.28	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.084949	0.47455	N	0.000224	T	0.00012	0.0000	N	0.16656	0.425	0.49798	P	1.7100000000003224E-4	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.42999	-0.9418	9	0.12766	T	0.61	-3.5298	13.087	0.59146	0.0:0.5058:0.4942:0.0	rs3825629;rs57443716;rs3825629	416;416;416;416	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	Q	416	ENSP00000355045:E416Q;ENSP00000354917:E416Q;ENSP00000371668:E416Q	ENSP00000354917:E416Q	E	+	1	0	FAM179B	44502620	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.982000	0.49337	1.155000	0.42497	-0.225000	0.12378	GAA	G|0.836;C|0.164	0.164	strong		0.428	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		C	45432870	G	C	45432870	3	2	22	1	0	0	0	0	1	0	0	0	5506	1291	45	4	1248	4	FAM179B	14	45432870	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1234	45432870	61916670	7352	12460										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45473265	45473265	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttttgttttattacagtGtatgctagcctcaattttgg	7	6	2	0	rs17092470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45473265G>A	ENST00000361577.3	+	4	2554	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Splice_Site_p.V780V|FAM179B_ENST00000382233.2_Splice_Site_p.V780V	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	780										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTATTACAGTGTATGCTAGCC	0.338													G|||	262	0.0523163	0.1899	0.0159	5008	,	,		17095	0.0		0.0	False		,,,				2504	0.0				p.V780V		Atlas-SNP	.											.	FAM179B	115	.	0			c.G2340A						PASS	.	G		688,3718	284.6+/-277.7	50,588,1565	47	43	44		2340	-0.8	0.1	14	dbSNP_123	44	7,8593	5.0+/-18.6	0,7,4293	yes	coding-synonymous-near-splice	FAM179B	NM_015091.2		50,595,5858	AA,AG,GG		0.0814,15.6151,5.3437		780/1721	45473265	695,12311	2203	4300	6503	SO:0001630	splice_region_variant	23116	exon4			TACAGTGTATGCT	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2339-1G>A	14.37:g.45473265G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_015091	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																			G|0.948;A|0.052	0.052	strong		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	Silent	A	45473265	G	A	45473265	5	1	22	1	0	0	0	0	0	0	1	0	5506	1391	48	2	2354	2	FAM179B	14	45473265	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40395	45473265	61876275	7353	12461										
FANCM	57697	hgsc.bcm.edu	37	chr14	45606287	45606287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagggtctacacaagcttCcaccaggaaggaaatatggt	10	9	2	0	rs10138997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45606287C>T	ENST00000267430.5	+	2	609	c.524C>T	c.(523-525)tCc>tTc	p.S175F	FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000542564.2_Missense_Mutation_p.S175F|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.S175F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	175	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		S -> F (in dbSNP:rs10138997).		DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACACAAGCTTCCACCAGGAAG	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	1031	0.205871	0.4864	0.0879	5008	,	,		18628	0.121		0.0676	False		,,,				2504	0.1401				p.S175F		Atlas-SNP	.											FANCM,NS,carcinoma,+1,1	FANCM	225	1	0			c.C524T						PASS	.	T	PHE/SER	1741,2665	647.2+/-398.5	325,1091,787	96	99	98		524	4.2	0.7	14	dbSNP_119	98	475,8125	797.9+/-407.4	14,447,3839	yes	missense	FANCM	NM_020937.2	155	339,1538,4626	TT,TC,CC		5.5233,39.5143,17.0383	benign	175/2049	45606287	2216,10790	2203	4300	6503	SO:0001583	missense	57697	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AAGCTTCCACCAG	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.524C>T	14.37:g.45606287C>T	ENSP00000267430:p.Ser175Phe	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	396	0.1813186813186813	233	0.4735772357723577	35	0.09668508287292818	69	0.12062937062937062	59	0.07783641160949868	T	10.68	1.417076	0.25552	0.395143	0.055233	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.15834	2.39;2.39;2.39	5.39	4.21	0.49690	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.410133	0.27340	N	0.019809	T	0.00012	0.0000	L	0.55103	1.725	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.46721	-0.9171	9	0.44086	T	0.13	.	1.3198	0.02114	0.1456:0.1596:0.1515:0.5432	rs10138997;rs52796356;rs58102728;rs10138997	175;175;175	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	F	175	ENSP00000450596:S175F;ENSP00000267430:S175F;ENSP00000442493:S175F	ENSP00000267430:S175F	S	+	2	0	FANCM	44676037	0.000000	0.05858	0.686000	0.30086	0.962000	0.63368	0.043000	0.13971	0.329000	0.23460	-0.269000	0.10298	TCC	C|0.815;T|0.185	0.185	strong		0.378	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45606287	C	T	45606287	3	4	22	1	0	0	0	0	1	0	0	0	5671	855	30	2	530	2	FANCM	14	45606287	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	133022	45606287	61743253	7354	12462										
FANCM	57697	hgsc.bcm.edu	37	chr14	45644589	45644589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacggtattatagattctGtagataatgacagaaattcc	7	6	2	4	rs1367580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45644589G>T	ENST00000267430.5	+	14	2717	c.2632G>T	c.(2632-2634)Gta>Tta	p.V878L	FANCM_ENST00000542564.2_Missense_Mutation_p.V852L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	878			V -> L (in dbSNP:rs1367580). {ECO:0000269|PubMed:10997877}.		DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATAGATTCTGTAGATAATGA	0.279								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	1163	0.232228	0.4478	0.1729	5008	,	,		17096	0.128		0.1282	False		,,,				2504	0.1973				p.V878L		Atlas-SNP	.											.	FANCM	225	.	0			c.G2632T						PASS	.	T	LEU/VAL	1460,2928		243,974,977	45	52	50		2632	4.1	0	14	dbSNP_88	50	1020,7556		62,896,3330	yes	missense	FANCM	NM_020937.2	32	305,1870,4307	TT,TG,GG		11.8937,33.2726,19.1299	benign	878/2049	45644589	2480,10484	2194	4288	6482	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GATTCTGTAGATA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2632G>T	14.37:g.45644589G>T	ENSP00000267430:p.Val878Leu	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	36	22	0.611111	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	469	0.21474358974358973	228	0.4634146341463415	57	0.1574585635359116	75	0.13111888111888112	109	0.1437994722955145	T	0	-2.589270	0.00128	0.332726	0.118937	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.16324	2.94;2.93;2.35	5.24	4.08	0.47627	.	1.095180	0.06954	N	0.815069	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48536	-0.9027	9	0.02654	T	1	.	6.7797	0.23638	0.0:0.0815:0.1533:0.7651	rs1367580;rs3759676;rs52832869;rs61645397;rs1367580	852;878	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	L	878;852;394	ENSP00000267430:V878L;ENSP00000442493:V852L;ENSP00000452033:V394L	ENSP00000267430:V878L	V	+	1	0	FANCM	44714339	0.653000	0.27358	0.003000	0.11579	0.027000	0.11550	0.856000	0.27818	0.383000	0.24910	-0.335000	0.08231	GTA	G|0.796;T|0.204	0.204	strong		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45644589	G	T	45644589	3	4	22	1	0	0	0	0	1	0	0	0	5671	1377	48	4	2686	4	FANCM	14	45644589	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38302	45644589	61704951	7355	12463										
C14orf106	55320	hgsc.bcm.edu	37	chr14	45693152	45693152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtaactccttctcattccAttccttatcctgaattaaac	2	13	1	1	rs190280845		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45693152A>G	ENST00000310806.4	-	11	3096	c.2638T>C	c.(2638-2640)Tgg>Cgg	p.W880R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	880	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCTCATTCCATTCCTTATCC	0.368													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19353	0.0		0.0	False		,,,				2504	0.0				p.W880R		Atlas-SNP	.											.	MIS18BP1	92	.	0			c.T2638C						PASS	.	A	ARG/TRP	0,4406		0,0,2203	79	76	77		2638	5.7	1	14		77	2,8598	2.2+/-6.3	0,2,4298	no	missense	MIS18BP1	NM_018353.4	101	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	880/1133	45693152	2,13004	2203	4300	6503	SO:0001583	missense	55320	exon11			CATTCCATTCCTT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2638T>C	14.37:g.45693152A>G	ENSP00000309790:p.Trp880Arg	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	18.20	3.570745	0.65765	0.0	2.33E-4	ENSG00000129534	ENST00000310806	T	0.79845	-1.31	5.72	5.72	0.89469	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.79475	2.455	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.90273	0.4309	10	0.66056	D	0.02	-5.0352	14.245	0.65983	1.0:0.0:0.0:0.0	.	880	Q6P0N0	M18BP_HUMAN	R	880	ENSP00000309790:W880R	ENSP00000309790:W880R	W	-	1	0	MIS18BP1	44762902	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	3.594000	0.54008	2.311000	0.77944	0.533000	0.62120	TGG	A|1.000;G|0.000	0.000	strong		0.368	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			G	45693152	A	G	45693152	3	3	22	1	0	0	0	0	1	0	0	0	1738	217	8	2	788	2	C14orf106	14	45693152	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48563	45693152	61656388	7356	12464										
C14orf106	55320	hgsc.bcm.edu	37	chr14	45693648	45693648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaagtaagtcacgttcatcGcaatcttccttgtttttact	6	9	3	0	rs35223850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45693648G>A	ENST00000310806.4	-	11	2600	c.2142C>T	c.(2140-2142)tgC>tgT	p.C714C		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	714					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CACGTTCATCGCAATCTTCCT	0.343													G|||	138	0.0275559	0.0325	0.0159	5008	,	,		19114	0.0		0.0686	False		,,,				2504	0.0153				p.C714C		Atlas-SNP	.											.	MIS18BP1	92	.	0			c.C2142T						PASS	.	G		154,4252	106.5+/-144.9	0,154,2049	69	70	69		2142	0.4	0	14	dbSNP_126	69	517,8083	144.5+/-200.4	17,483,3800	no	coding-synonymous	MIS18BP1	NM_018353.4		17,637,5849	AA,AG,GG		6.0116,3.4952,5.1592		714/1133	45693648	671,12335	2203	4300	6503	SO:0001819	synonymous_variant	55320	exon11			TTCATCGCAATCT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2142C>T	14.37:g.45693648G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	CCDS9684.1																																																																																			G|0.954;A|0.046	0.046	strong		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			A	45693648	G	A	45693648	2	1	22	1	0	0	0	0	0	0	0	1	1738	1079	38	1		1	C14orf106	14	45693648	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	496	45693648	61655892	7357	12465										
C14orf106	55320	hgsc.bcm.edu	37	chr14	45711594	45711594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaacgtgtcctttttggaTttagtggttgcaactatact	8	7	0	0	rs1266209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:45711594T>C	ENST00000310806.4	-	4	1244	c.786A>G	c.(784-786)aaA>aaG	p.K262K	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	262					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTTTTGGATTTAGTGGTTG	0.343													C|||	1444	0.288339	0.6528	0.1916	5008	,	,		17981	0.1389		0.1243	False		,,,				2504	0.1871				p.K262K		Atlas-SNP	.											.	MIS18BP1	92	.	0			c.A786G						PASS	.	C		2327,2077	571.1+/-383.0	627,1073,502	83	89	87		786	-2	0	14	dbSNP_87	87	941,7659	774.5+/-407.7	50,841,3409	no	coding-synonymous	MIS18BP1	NM_018353.4		677,1914,3911	CC,CT,TT		10.9419,47.1617,25.1307		262/1133	45711594	3268,9736	2202	4300	6502	SO:0001819	synonymous_variant	55320	exon4			TTTGGATTTAGTG	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.786A>G	14.37:g.45711594T>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	133	54	0.406015	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	CCDS9684.1																																																																																			T|0.738;C|0.262	0.262	strong		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			C	45711594	T	C	45711594	2	2	22	1	0	0	0	0	0	0	0	1	1738	1490	52	2		2	C14orf106	14	45711594	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17946	45711594	61637946	7358	12466										
ATL1	51062	hgsc.bcm.edu	37	chr14	51054598	51054598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcagaagaggaggagccAgtgaaaaaggcaggaccagt	15	7	1	3	rs35014209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:51054598A>G	ENST00000358385.6	+	2	325	c.84A>G	c.(82-84)ccA>ccG	p.P28P	ATL1_ENST00000357032.3_Silent_p.P28P|ATL1_ENST00000354525.4_Silent_p.P28P|ATL1_ENST00000556478.2_3'UTR|ATL1_ENST00000441560.2_Silent_p.P28P	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	28					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGGAGGAGCCAGTGAAAAAGG	0.453													A|||	822	0.164137	0.3623	0.1225	5008	,	,		20809	0.0655		0.1282	False		,,,				2504	0.0644				p.P28P		Atlas-SNP	.											.	ATL1	46	.	0			c.A84G						PASS	.	A	,,	1384,3022	456.1+/-351.2	209,966,1028	109	105	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	84,84,84	-1.2	1	14	dbSNP_126	107	1236,7364	247.4+/-275.4	96,1044,3160	no	coding-synonymous,coding-synonymous,coding-synonymous	ATL1	NM_001127713.1,NM_015915.4,NM_181598.3	,,	305,2010,4188	GG,GA,AA		14.3721,31.4117,20.1445	,,	28/554,28/559,28/554	51054598	2620,10386	2203	4300	6503	SO:0001819	synonymous_variant	51062	exon2			GGAGCCAGTGAAA	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.84A>G	14.37:g.51054598A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	98	44	0.44898	NM_015915	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	37	CCDS9700.1																																																																																			A|0.807;G|0.193	0.193	strong		0.453	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			G	51054598	A	G	51054598	2	3	22	1	0	0	0	0	0	0	0	1	1106	175	7	3		3	ATL1	14	51054598	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5343004	51054598	56294942	7359	12467										
NIN	51199	hgsc.bcm.edu	37	chr14	51204996	51204996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagaagattggattccaaCtgacggacctaacaggaaca	11	8	0	3	rs11376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:51204996C>T	ENST00000382041.3	-	27	5827	c.5637G>A	c.(5635-5637)caG>caA	p.Q1879Q	NIN_ENST00000453196.1_Silent_p.Q1879Q|NIN_ENST00000389868.3_Silent_p.Q1166Q|NIN_ENST00000324330.9_Silent_p.Q1879Q|NIN_ENST00000245441.5_Silent_p.Q1879Q|NIN_ENST00000382043.4_Silent_p.Q1166Q|NIN_ENST00000530997.2_Silent_p.Q1879Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1879					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGGATTCCAACTGACGGACCT	0.388			T	PDGFRB	MPD								T|||	2548	0.508786	0.7375	0.4092	5008	,	,		20711	0.3155		0.4851	False		,,,				2504	0.4939				p.Q1879Q		Atlas-SNP	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN	475	.	0			c.G5637A						PASS	.	T	,,,	3067,1339	447.1+/-348.2	1080,907,216	160	140	147		3498,5637,5637,5637	-11.4	0	14	dbSNP_52	147	4449,4151	566.0+/-388.6	1141,2167,992	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	2221,3074,1208	TT,TC,CC		48.2674,30.3904,42.2113	,,,	1166/1378,1879/2134,1879/2047,1879/2091	51204996	7516,5490	2203	4300	6503	SO:0001819	synonymous_variant	51199	exon27			TTCCAACTGACGG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5637G>A	14.37:g.51204996C>T		Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	216	216	1	NM_020921	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	1100	0.5036630036630036	382	0.7764227642276422	155	0.4281767955801105	188	0.32867132867132864	375	0.4947229551451187	T	2.392	-0.339670	0.05243	0.696096	0.517326	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27919	P	0.9383365	.	.	.	.	.	.	T	0.03587	-1.1022	3	.	.	.	-7.271	15.2542	0.73571	0.0776:0.6719:0.0784:0.172	rs11376;rs1134126;rs3015463;rs11554814;rs17295972;rs17350344;rs17792348;rs17846102;rs17859105;rs52836159;rs61295335;rs11376	.	.	.	I	1370	.	.	V	-	1	0	NIN	50274746	0.024000	0.19004	0.001000	0.08648	0.541000	0.35023	-0.727000	0.04931	-3.046000	0.00261	-0.360000	0.07572	GTT	C|0.452;T|0.548	0.548	strong		0.388	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51204996	C	T	51204996	2	4	22	1	0	0	0	0	0	0	0	1	10417	564	20	2		2	NIN	14	51204996	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	150398	51204996	56144544	7360	12468										
NIN	51199	hgsc.bcm.edu	37	chr14	51227000	51227000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgtgcgtttcgttctcAtgcctttgcttcatgttctc	9	10	3	0	rs4901055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:51227000A>G	ENST00000382041.3	-	17	2164	c.1974T>C	c.(1972-1974)caT>caC	p.H658H	NIN_ENST00000453196.1_Silent_p.H658H|NIN_ENST00000389868.3_Silent_p.H658H|NIN_ENST00000324330.9_Silent_p.H658H|NIN_ENST00000245441.5_Silent_p.H658H|NIN_ENST00000382043.4_Silent_p.H658H|NIN_ENST00000530997.2_Silent_p.H658H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	658					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTCGTTCTCATGCCTTTGCT	0.478			T	PDGFRB	MPD								A|||	743	0.148363	0.3775	0.1138	5008	,	,		21891	0.004		0.1243	False		,,,				2504	0.0368				p.H658H		Atlas-SNP	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN	475	.	0			c.T1974C						PASS	.	A	,,,	1517,2889	444.3+/-347.3	258,1001,944	73	79	77		1974,1974,1974,1974	-0.7	0.6	14	dbSNP_111	77	1259,7341	243.5+/-273.1	111,1037,3152	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	369,2038,4096	GG,GA,AA		14.6395,34.4303,21.344	,,,	658/1378,658/2134,658/2047,658/2091	51227000	2776,10230	2203	4300	6503	SO:0001819	synonymous_variant	51199	exon17			GTTCTCATGCCTT	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1974T>C	14.37:g.51227000A>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	45	20	0.444444	NM_020921	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	341	0.15613553113553114	195	0.39634146341463417	48	0.13259668508287292	3	0.005244755244755245	95	0.12532981530343007	A	0.227	-1.023764	0.02061	0.344303	0.146395	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.93	-0.694	0.11294	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.99999822304	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5257	13.3399	0.60538	0.6236:0.0:0.3764:0.0	rs4901055;rs59513340;rs4901055	.	.	.	R	149	.	.	X	-	1	0	NIN	50296750	0.002000	0.14202	0.582000	0.28627	0.047000	0.14425	-0.071000	0.11505	-0.332000	0.08489	-1.431000	0.01090	TGA	A|0.812;G|0.188	0.188	strong		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		G	51227000	A	G	51227000	2	3	22	1	0	0	0	0	0	0	0	1	10417	214	8	2		2	NIN	14	51227000	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22004	51227000	56122540	7361	12469										
ABHD12B	145447	hgsc.bcm.edu	37	chr14	51368610	51368610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgagaaaagacaaaataAtctttcctaatgatgaaaag	6	7	1	4	rs28564871|rs386777431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:51368610A>G	ENST00000337334.2	+	10	859	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.I175V|ABHD12B_ENST00000353130.1_Missense_Mutation_p.I205V	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	282			I -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				hydrolase activity (GO:0016787)	p.I205V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					AGACAAAATAATCTTTCCTAA	0.313													G|||	1421	0.283746	0.1649	0.3876	5008	,	,		18507	0.4573		0.2028	False		,,,				2504	0.2751				p.I282V		Atlas-SNP	.											ABHD12B_ENST00000337334,colon,carcinoma,-1,5	ABHD12B	53	5	1	Substitution - Missense(1)	breast(1)	c.A844G						PASS	.	G	VAL/ILE,VAL/ILE	673,3733	760.5+/-413.0	54,565,1584	75	72	73		844,613	3.3	1	14	dbSNP_125	73	1637,6955	738.4+/-407.1	151,1335,2810	yes	missense,missense	ABHD12B	NM_001206673.1,NM_181814.1	29,29	205,1900,4394	GG,GA,AA		19.0526,15.2746,17.772	benign,benign	282/363,205/286	51368610	2310,10688	2203	4296	6499	SO:0001583	missense	145447	exon10			AAAATAATCTTTC	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.844A>G	14.37:g.51368610A>G	ENSP00000336693:p.Ile282Val	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	90	35	0.388889	NM_001206673	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	657	0.3008241758241758	90	0.18292682926829268	139	0.3839779005524862	268	0.46853146853146854	160	0.21108179419525067	G	6.676	0.493340	0.12702	0.152746	0.190526	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.41065	2.23;1.01;2.27	5.24	3.35	0.38373	.	0.502898	0.21095	N	0.080253	T	0.00012	0.0000	N	0.11789	0.175	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47611	-0.9104	9	0.09843	T	0.71	-9.4496	5.205	0.15285	0.175:0.0:0.6608:0.1641	rs28564871;rs28564871	282;205	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	V	205;282;175	ENSP00000343951:I205V;ENSP00000336693:I282V;ENSP00000379101:I175V	ENSP00000336693:I282V	I	+	1	0	ABHD12B	50438360	0.799000	0.28903	0.998000	0.56505	0.960000	0.62799	0.331000	0.19733	0.401000	0.25424	-0.119000	0.15052	ATC	A|0.765;G|0.235	0.235	strong		0.313	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			G	51368610	A	G	51368610	3	3	22	1	0	0	0	0	1	0	0	0	77	101	4	2	661	2	ABHD12B	14	51368610	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	141610	51368610	55980930	7362	12470										
ABHD12B	145447	hgsc.bcm.edu	37	chr14	51370852	51370852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcaagatggttatctttCctcctggcttccaacacaac	8	12	2	1	rs34800262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:51370852C>G	ENST00000337334.2	+	12	1018	c.1003C>G	c.(1003-1005)Cct>Gct	p.P335A	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.P258A|ABHD12B_ENST00000395752.1_Missense_Mutation_p.P228A	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	335							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGTTATCTTTCCTCCTGGCTT	0.443													C|||	596	0.11901	0.0983	0.0865	5008	,	,		21457	0.0913		0.0915	False		,,,				2504	0.227				p.P335A		Atlas-SNP	.											ABHD12B_ENST00000337334,right_upper_lobe,carcinoma,-1,2	ABHD12B	53	2	0			c.C1003G						PASS	.	C	ALA/PRO,ALA/PRO	452,3954	216.8+/-235.3	22,408,1773	213	211	212		1003,772	4.9	1	14	dbSNP_126	212	717,7883	175.0+/-225.2	37,643,3620	yes	missense,missense	ABHD12B	NM_001206673.1,NM_181814.1	27,27	59,1051,5393	GG,GC,CC		8.3372,10.2587,8.9882	benign,benign	335/363,258/286	51370852	1169,11837	2203	4300	6503	SO:0001583	missense	145447	exon12			ATCTTTCCTCCTG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.1003C>G	14.37:g.51370852C>G	ENSP00000336693:p.Pro335Ala	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	235	127	0.540426	NM_001206673	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	187	0.08562271062271062	49	0.09959349593495935	18	0.049723756906077346	47	0.08216783216783216	73	0.09630606860158311	C	12.29	1.894362	0.33442	0.102587	0.083372	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.53206	2.25;0.63;2.27	4.94	4.94	0.65067	.	0.426050	0.28589	N	0.014814	T	0.00967	0.0032	L	0.28115	0.83	0.41275	D	0.986877	B;B	0.29085	0.137;0.232	B;B	0.30401	0.115;0.07	T	0.01824	-1.1266	10	0.09843	T	0.71	-19.3759	15.7423	0.77910	0.0:1.0:0.0:0.0	rs34800262	335;258	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	A	258;335;228	ENSP00000343951:P258A;ENSP00000336693:P335A;ENSP00000379101:P228A	ENSP00000336693:P335A	P	+	1	0	ABHD12B	50440602	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.256000	0.58810	2.675000	0.91044	0.655000	0.94253	CCT	C|0.912;G|0.088	0.088	strong		0.443	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			G	51370852	C	G	51370852	3	3	22	1	0	0	0	0	1	0	0	0	77	855	30	4	828	4	ABHD12B	14	51370852	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2242	51370852	55978688	7363	12471										
FRMD6	122786	hgsc.bcm.edu	37	chr14	52182081	52182081	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgccagatggcttgccttcTgcccggaagctcatatacta	9	12	2	1	rs731715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:52182081T>A	ENST00000344768.5	+	10	1084	c.888T>A	c.(886-888)tcT>tcA	p.S296S	FRMD6_ENST00000356218.4_Silent_p.S288S|FRMD6_ENST00000395718.2_Silent_p.S288S|FRMD6_ENST00000554167.1_Silent_p.S219S|FRMD6_ENST00000553556.1_5'Flank			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	296	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGCCTTCTGCCCGGAAGC	0.488													A|||	3353	0.669529	0.6899	0.6888	5008	,	,		16553	0.628		0.7187	False		,,,				2504	0.6207				p.S296S		Atlas-SNP	.											FRMD6,NS,carcinoma,+1,1	FRMD6	100	1	0			c.T888A						PASS	.	A	,	3028,1378	457.6+/-351.7	1045,938,220	58	61	60		864,864	-11.9	0.2	14	dbSNP_86	60	6086,2514	412.1+/-350.7	2156,1774,370	no	coding-synonymous,coding-synonymous	FRMD6	NM_001042481.1,NM_152330.3	,	3201,2712,590	AA,AT,TT		29.2326,31.2755,29.9247	,	288/615,288/615	52182081	9114,3892	2203	4300	6503	SO:0001819	synonymous_variant	122786	exon10			GCCTTCTGCCCGG	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.888T>A	14.37:g.52182081T>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_001267046	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																			T|0.309;A|0.691	0.691	strong		0.488	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52182081	T	A	52182081	2	1	22	1	0	0	0	0	0	0	0	1	6054	1567	55	5		5	FRMD6	14	52182081	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	811229	52182081	55167459	7364	12472										
FRMD6	122786	hgsc.bcm.edu	37	chr14	52186966	52186966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaccaagccccgggacacGgggccagaagacagctactc	12	15	0	2	rs2277495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:52186966G>A	ENST00000344768.5	+	11	1414	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	FRMD6_ENST00000356218.4_Silent_p.T398T|FRMD6_ENST00000395718.2_Silent_p.T398T|FRMD6_ENST00000554167.1_Silent_p.T329T|FRMD6_ENST00000553556.1_Silent_p.T48T			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	406					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCCGGGACACGGGGCCAGAAG	0.617													G|||	1149	0.229433	0.1021	0.2795	5008	,	,		17792	0.2649		0.3211	False		,,,				2504	0.2352				p.T406T		Atlas-SNP	.											.	FRMD6	100	.	0			c.G1218A						PASS	.	G	,	550,3856	248.1+/-256.1	45,460,1698	64	61	62		1194,1194	-12	0	14	dbSNP_100	62	2673,5927	428.0+/-355.8	395,1883,2022	no	coding-synonymous,coding-synonymous	FRMD6	NM_001042481.1,NM_152330.3	,	440,2343,3720	AA,AG,GG		31.0814,12.483,24.7809	,	398/615,398/615	52186966	3223,9783	2203	4300	6503	SO:0001819	synonymous_variant	122786	exon11			GGACACGGGGCCA	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1218G>A	14.37:g.52186966G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	85	44	0.517647	NM_001267046	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																			G|0.751;C|0.000;A|0.249	0.249	strong		0.617	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52186966	G	A	52186966	2	1	22	1	0	0	0	0	0	0	0	1	6054	1103	39	1		1	FRMD6	14	52186966	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4885	52186966	55162574	7365	12473										
NID2	22795	hgsc.bcm.edu	37	chr14	52486850	52486850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaaccaggagtattgtaGcaggtagctgcagggtgaca	15	6	0	1	rs8007166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:52486850G>A	ENST00000216286.5	-	13	2720	c.2721C>T	c.(2719-2721)tgC>tgT	p.C907C	NID2_ENST00000541773.1_Silent_p.C806C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	907	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGTATTGTAGCAGGTAGCTG	0.463													g|||	144	0.028754	0.1051	0.0072	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.0				p.C907C		Atlas-SNP	.											.	NID2	201	.	0			c.C2721T						PASS	.	G		345,4061	181.2+/-209.3	15,315,1873	127	110	115		2721	4.6	1	14	dbSNP_116	115	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	NID2	NM_007361.3		15,321,6167	AA,AG,GG		0.0698,7.8302,2.6988		907/1376	52486850	351,12655	2203	4300	6503	SO:0001819	synonymous_variant	22795	exon13			ATTGTAGCAGGTA	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2721C>T	14.37:g.52486850G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	115	60	0.521739	NM_007361	A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	CCDS9706.1																																																																																			G|0.971;A|0.029	0.029	strong		0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52486850	G	A	52486850	2	1	22	1	0	0	0	0	0	0	0	1	10415	963	34	2		2	NID2	14	52486850	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	299884	52486850	54862690	7366	12474										
NID2	22795	hgsc.bcm.edu	37	chr14	52493996	52493996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctccatggtgaacacacCgggcctgcccagcaggagca	12	15	0	1	rs28507587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:52493996C>T	ENST00000216286.5	-	12	2596	c.2597G>A	c.(2596-2598)cGg>cAg	p.R866Q	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	866	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> Q (in dbSNP:rs28507587).		basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTGAACACACCGGGCCTGCCC	0.587													c|||	116	0.0231629	0.0847	0.0058	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0				p.R866Q		Atlas-SNP	.											NID2,NS,carcinoma,-1,1	NID2	201	1	0			c.G2597A						PASS	.	C	GLN/ARG	293,4113	160.3+/-192.7	12,269,1922	41	37	38		2597	-0.7	1	14	dbSNP_125	38	5,8595	3.0+/-9.4	0,5,4295	yes	missense	NID2	NM_007361.3	43	12,274,6217	TT,TC,CC		0.0581,6.65,2.2913	possibly-damaging	866/1376	52493996	298,12708	2203	4300	6503	SO:0001583	missense	22795	exon12			ACACACCGGGCCT	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2597G>A	14.37:g.52493996C>T	ENSP00000216286:p.Arg866Gln	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	107	51	0.476636	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	38	0.0173992673992674	35	0.07113821138211382	3	0.008287292817679558	0	0.0	0	0.0	C	9.202	1.028739	0.19512	0.0665	5.81E-4	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	T	0.71934	-0.61	5.98	-0.687	0.11320	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.509728	0.21782	N	0.069185	T	0.05181	0.0138	L	0.33339	1.005	0.53688	D	0.999977	B;P;B	0.45044	0.012;0.849;0.04	B;B;B	0.26094	0.011;0.066;0.025	T	0.28138	-1.0053	10	0.10902	T	0.67	.	12.2116	0.54383	0.0:0.5941:0.0:0.4059	rs28507587;rs28507587	460;868;866	E7EPP3;Q5CZI2;Q14112	.;.;NID2_HUMAN	Q	866;460;868	ENSP00000216286:R866Q	ENSP00000216286:R866Q	R	-	2	0	NID2	51563746	0.000000	0.05858	0.956000	0.39512	0.155000	0.21991	-1.056000	0.03489	-0.047000	0.13423	-0.222000	0.12452	CGG	C|0.979;T|0.021	0.021	strong		0.587	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52493996	C	T	52493996	3	4	22	1	0	0	0	0	1	0	0	0	10415	652	23	1	1574	1	NID2	14	52493996	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7146	52493996	54855544	7367	12475										
ERO1L	30001	hgsc.bcm.edu	37	chr14	53133134	53133134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacattccatattttccaAgcatctggtcccttgtaacc	5	12	1	1	rs34388088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:53133134A>G	ENST00000395686.3	-	7	811	c.588T>C	c.(586-588)gcT>gcC	p.A196A		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	196					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					ATATTTTCCAAGCATCTGGTC	0.333													A|||	76	0.0151757	0.0537	0.0072	5008	,	,		17663	0.0		0.0	False		,,,				2504	0.0				p.A196A		Atlas-SNP	.											.	ERO1L	35	.	0			c.T588C						PASS	.	A		219,4187	129.4+/-166.1	8,203,1992	79	79	79		588	0.9	1	14	dbSNP_126	79	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ERO1L	NM_014584.1		8,208,6287	GG,GA,AA		0.0581,4.9705,1.7223		196/469	53133134	224,12782	2203	4300	6503	SO:0001819	synonymous_variant	30001	exon7			TTTCCAAGCATCT	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.588T>C	14.37:g.53133134A>G		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	199	84	0.422111	NM_014584	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	ENST00000395686.3	37	CCDS9709.1																																																																																			A|0.985;G|0.015	0.015	strong		0.333	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		G	53133134	A	G	53133134	2	3	22	1	0	0	0	0	0	0	0	1	5239	59	3	3		3	ERO1L	14	53133134	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	639138	53133134	54216406	7368	12476										
LGALS3	3958	hgsc.bcm.edu	37	chr14	55604935	55604935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacctccaggcgcctaccCtggagcacctggagcttatc	11	16	0	0	rs4644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55604935C>A	ENST00000254301.9	+	3	452	c.191C>A	c.(190-192)cCt>cAt	p.P64H	LGALS3_ENST00000554715.1_Missense_Mutation_p.P64H|LGALS3_ENST00000553755.1_3'UTR	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	64	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.		P -> H (in dbSNP:rs4644). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2022338, ECO:0000269|PubMed:2261464}.		eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GGCGCCTACCCTGGAGCACCT	0.692													C|||	1469	0.293331	0.2534	0.2781	5008	,	,		15154	0.1885		0.4076	False		,,,				2504	0.3487				p.P64H		Atlas-SNP	.											.	LGALS3	10	.	0			c.C191A	GRCh37	CM086193	LGALS3	M	rs4644	PASS	.	C	HIS/PRO,HIS/PRO	1015,2623		148,719,952	21	23	23		191,191	5.7	0.2	14	dbSNP_52	23	3240,4898		699,1842,1528	yes	missense,missense	LGALS3	NM_001177388.1,NM_002306.3	77,77	847,2561,2480	AA,AC,CC		39.8132,27.8999,36.1328	probably-damaging,probably-damaging	64/201,64/251	55604935	4255,7521	1819	4069	5888	SO:0001583	missense	3958	exon3			CCTACCCTGGAGC	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.191C>A	14.37:g.55604935C>A	ENSP00000254301:p.Pro64His	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	153	79	0.51634	NM_002306	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	CCDS41956.1	638	0.29212454212454214	124	0.25203252032520324	100	0.27624309392265195	101	0.17657342657342656	313	0.4129287598944591	C	12.18	1.861623	0.32884	0.278999	0.398132	ENSG00000131981	ENST00000553493;ENST00000254301;ENST00000554715	T;T;T	0.78364	-1.17;3.08;2.35	5.65	5.65	0.86999	.	0.113638	0.64402	D	0.000012	T	0.00012	0.0000	M	0.76574	2.34	0.19575	P	0.9999653885	D	0.89917	1.0	D	0.85130	0.997	T	0.00847	-1.1542	9	0.62326	D	0.03	-0.8773	16.6435	0.85138	0.0:1.0:0.0:0.0	rs4644;rs2075599;rs3181581;rs17253709;rs17854838;rs61570076;rs4644	64	P17931	LEG3_HUMAN	H	64	ENSP00000451526:P64H;ENSP00000254301:P64H;ENSP00000451381:P64H	ENSP00000254301:P64H	P	+	2	0	LGALS3	54674688	0.995000	0.38212	0.176000	0.23000	0.086000	0.17979	4.212000	0.58514	2.662000	0.90505	0.655000	0.94253	CCT	C|0.700;A|0.300	0.300	strong		0.692	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		A	55604935	C	A	55604935	3	1	22	1	0	0	0	0	1	0	0	0	8743	681	24	4	197	4	LGALS3	14	55604935	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2471801	55604935	51744605	7369	12477										
LGALS3	3958	hgsc.bcm.edu	37	chr14	55611839	55611839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatatgccatttcagatacaAgtactggttgaacctgacca	7	9	1	3	rs11125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55611839A>T	ENST00000254301.9	+	6	864	c.603A>T	c.(601-603)caA>caT	p.Q201H		NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	201	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TTCAGATACAAGTACTGGTTG	0.373													A|||	231	0.0461262	0.0008	0.0793	5008	,	,		19985	0.006		0.0785	False		,,,				2504	0.092				p.Q201H		Atlas-SNP	.											.	LGALS3	10	.	0			c.A603T						PASS	.	A	,HIS/GLN	53,3809		0,53,1878	130	127	128		,603	2.4	1	14	dbSNP_52	128	636,7638		21,594,3522	yes	intron,missense	LGALS3	NM_001177388.1,NM_002306.3	,24	21,647,5400	TT,TA,AA		7.6867,1.3723,5.6773	,probably-damaging	,201/251	55611839	689,11447	1931	4137	6068	SO:0001583	missense	3958	exon6			GATACAAGTACTG	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.603A>T	14.37:g.55611839A>T	ENSP00000254301:p.Gln201His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	107	59	0.551402	NM_002306	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	CCDS41956.1	94	0.04304029304029304	1	0.0020325203252032522	37	0.10220994475138122	2	0.0034965034965034965	54	0.0712401055408971	A	13.59	2.282691	0.40394	0.013723	0.076867	ENSG00000131981	ENST00000254301	T	0.05786	3.39	6.02	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.217575	0.48767	D	0.000171	T	0.00384	0.0012	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.03750	-1.1007	10	0.34782	T	0.22	-8.9608	8.3987	0.32572	0.709:0.0:0.291:0.0	rs11125;rs1126860;rs3182151;rs11538650;rs17295916;rs17354346	201	P17931	LEG3_HUMAN	H	201	ENSP00000254301:Q201H	ENSP00000254301:Q201H	Q	+	3	2	LGALS3	54681592	0.963000	0.33076	0.971000	0.41717	0.019000	0.09904	0.091000	0.15046	0.491000	0.27793	0.533000	0.62120	CAA	A|0.943;T|0.057	0.057	strong		0.373	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		T	55611839	A	T	55611839	3	4	22	1	0	0	0	0	1	0	0	0	8743	69	3	5	621	5	LGALS3	14	55611839	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6904	55611839	51737701	7370	12478										
DLGAP5	9787	hgsc.bcm.edu	37	chr14	55619311	55619311	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggaattgtacttacatgAttttcttcaattaaatctgg	6	6	3	1	rs15870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55619311A>G	ENST00000247191.2	-	16	2334	c.2118T>C	c.(2116-2118)aaT>aaC	p.N706N	DLGAP5_ENST00000395425.2_Silent_p.N706N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	706					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TACTTACATGATTTTCTTCAA	0.338													G|||	1693	0.338059	0.4145	0.2911	5008	,	,		21438	0.1895		0.4085	False		,,,				2504	0.3487				p.N706N		Atlas-SNP	.											.	DLGAP5	84	.	0			c.T2118C						PASS	.	G	,	1849,2557	630.4+/-395.5	390,1069,744	104	103	104		2118,2118	-1.9	0	14	dbSNP_52	104	3465,5135	631.3+/-398.5	727,2011,1562	no	coding-synonymous,coding-synonymous	DLGAP5	NM_001146015.1,NM_014750.4	,	1117,3080,2306	GG,GA,AA		40.2907,41.9655,40.8581	,	706/843,706/847	55619311	5314,7692	2203	4300	6503	SO:0001819	synonymous_variant	9787	exon16			TACATGATTTTCT	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2118T>C	14.37:g.55619311A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	57	32	0.561404	NM_014750	A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	CCDS9723.1																																																																																			A|0.621;G|0.379	0.379	strong		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		G	55619311	A	G	55619311	2	3	22	1	0	0	0	0	0	0	0	1	4563	330	12	2		2	DLGAP5	14	55619311	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7472	55619311	51730229	7371	12479										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55817708	55817708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagtggggatggagtctaTgctgggaggcctctgtcagt	17	7	3	0	rs10144418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55817708T>C	ENST00000313833.4	+	2	845	c.600T>C	c.(598-600)taT>taC	p.Y200Y	FBXO34_ENST00000440021.1_Silent_p.Y200Y	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	200								p.Y200Y(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATGGAGTCTATGCTGGGAGGC	0.502													T|||	1597	0.31889	0.2073	0.3012	5008	,	,		22020	0.3185		0.4155	False		,,,				2504	0.3834				p.Y200Y		Atlas-SNP	.											FBXO34,NS,carcinoma,0,1	FBXO34	61	1	1	Substitution - coding silent(1)	stomach(1)	c.T600C						scavenged	.	T	,	1078,3328	392.1+/-328.4	130,818,1255	103	90	95		600,600	-3.2	0	14	dbSNP_119	95	3534,5066	514.5+/-378.4	751,2032,1517	no	coding-synonymous,coding-synonymous	FBXO34	NM_017943.3,NM_152231.1	,	881,2850,2772	CC,CT,TT		41.093,24.4666,35.4606	,	200/712,200/712	55817708	4612,8394	2203	4300	6503	SO:0001819	synonymous_variant	55030	exon2			AGTCTATGCTGGG	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.600T>C	14.37:g.55817708T>C		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	183	85	0.464481	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	CCDS32086.1																																																																																			T|0.655;C|0.345	0.345	strong		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			C	55817708	T	C	55817708	2	2	22	1	0	0	0	0	0	0	0	1	5744	1471	51	2		2	FBXO34	14	55817708	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	198397	55817708	51531832	7372	12480										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818162	55818162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtatctgtggattgtggcCcttcaagagctgatcgttgt	12	8	2	2	rs74050979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55818162C>T	ENST00000313833.4	+	2	1299	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	FBXO34_ENST00000440021.1_Missense_Mutation_p.P352S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	352										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGATTGTGGCCCTTCAAGAGC	0.532													C|||	74	0.0147764	0.053	0.0058	5008	,	,		18923	0.0		0.0	False		,,,				2504	0.0				p.P352S		Atlas-SNP	.											.	FBXO34	61	.	0			c.C1054T						PASS	.	C	SER/PRO,SER/PRO	248,4158	143.8+/-178.8	7,234,1962	118	112	114		1054,1054	1.2	0	14	dbSNP_130	114	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	74,74	7,237,6259	TT,TC,CC		0.0349,5.6287,1.9299	benign,benign	352/712,352/712	55818162	251,12755	2203	4300	6503	SO:0001583	missense	55030	exon2			TGTGGCCCTTCAA	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1054C>T	14.37:g.55818162C>T	ENSP00000313159:p.Pro352Ser	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	207	90	0.434783	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	30	0.013736263736263736	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	0	0.0	C	2.024	-0.423983	0.04734	0.056287	3.49E-4	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17528	2.27;2.27	5.29	1.21	0.21127	.	0.444948	0.20885	N	0.083928	T	0.01695	0.0054	M	0.66939	2.045	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.14090	-1.0485	10	0.36615	T	0.2	-19.68	8.4711	0.32986	0.0:0.6402:0.0:0.3598	.	352	Q9NWN3	FBX34_HUMAN	S	352	ENSP00000313159:P352S;ENSP00000394117:P352S	ENSP00000313159:P352S	P	+	1	0	FBXO34	54887915	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	0.391000	0.20784	0.388000	0.25054	0.650000	0.86243	CCT	C|0.979;T|0.021	0.021	strong		0.532	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			T	55818162	C	T	55818162	3	4	22	1	0	0	0	0	1	0	0	0	5744	623	22	2	1056	2	FBXO34	14	55818162	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	454	55818162	51531378	7373	12481										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818403	55818403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaattgcccacagatgctgTtgattgtatgagcagagagc	12	7	0	5	rs35070799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55818403T>C	ENST00000313833.4	+	2	1540	c.1295T>C	c.(1294-1296)gTt>gCt	p.V432A	FBXO34_ENST00000440021.1_Missense_Mutation_p.V432A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	432			V -> A (in dbSNP:rs35070799).							breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACAGATGCTGTTGATTGTATG	0.418													T|||	230	0.0459265	0.0008	0.0807	5008	,	,		21205	0.006		0.0805	False		,,,				2504	0.0879				p.V432A		Atlas-SNP	.											.	FBXO34	61	.	0			c.T1295C						PASS	.	T	ALA/VAL,ALA/VAL	65,4341	60.5+/-97.4	0,65,2138	138	129	132		1295,1295	0.4	0	14	dbSNP_126	132	690,7910	171.2+/-222.1	24,642,3634	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	64,64	24,707,5772	CC,CT,TT		8.0233,1.4753,5.805	benign,benign	432/712,432/712	55818403	755,12251	2203	4300	6503	SO:0001583	missense	55030	exon2			ATGCTGTTGATTG	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1295T>C	14.37:g.55818403T>C	ENSP00000313159:p.Val432Ala	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	156	80	0.512821	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	96	0.04395604395604396	1	0.0020325203252032522	38	0.10497237569060773	2	0.0034965034965034965	55	0.07255936675461741	T	2.813	-0.246439	0.05867	0.014753	0.080233	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.24908	1.83;1.83	5.48	0.452	0.16634	.	0.665108	0.13820	N	0.360485	T	0.00468	0.0015	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33803	-0.9854	10	0.06236	T	0.91	0.0061	6.0301	0.19675	0.0:0.1949:0.2462:0.559	rs35070799;rs61755585	432	Q9NWN3	FBX34_HUMAN	A	432	ENSP00000313159:V432A;ENSP00000394117:V432A	ENSP00000313159:V432A	V	+	2	0	FBXO34	54888156	0.001000	0.12720	0.000000	0.03702	0.376000	0.30014	0.337000	0.19841	-0.058000	0.13177	0.528000	0.53228	GTT	T|0.945;C|0.055	0.055	strong		0.418	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			C	55818403	T	C	55818403	3	2	22	1	0	0	0	0	1	0	0	0	5744	1725	60	2	1297	2	FBXO34	14	55818403	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	241	55818403	51531137	7374	12482										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818514	55818514	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtagacaaagaccagccttCcattttaaactcctgtgaag					rs59719421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55818514C>T	ENST00000313833.4	+	2	1651	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	FBXO34_ENST00000440021.1_Missense_Mutation_p.S469F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	469										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GACCAGCCTTCCATTTTAAAC	0.433													C|||	74	0.0147764	0.053	0.0058	5008	,	,		20569	0.0		0.0	False		,,,				2504	0.0				p.S469F		Atlas-SNP	.											.	FBXO34	61	.	0			c.C1406T						PASS	.	C	PHE/SER,PHE/SER	247,4159	143.1+/-178.2	7,233,1963	117	113	114		1406,1406	4.6	0	14	dbSNP_129	114	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	155,155	7,236,6260	TT,TC,CC		0.0349,5.606,1.9222	possibly-damaging,possibly-damaging	469/712,469/712	55818514	250,12756	2203	4300	6503	SO:0001583	missense	55030	exon2			AGCCTTCCATTTT	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1406C>T	14.37:g.55818514C>T	ENSP00000313159:p.Ser469Phe	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	223	97	0.434978	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	30	0.013736263736263736	28	0.056910569105691054	2	0.0055248618784530384	0	0.0	0	0.0	C	9.052	0.992345	0.18966	0.05606	3.49E-4	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.19938	2.11;2.11	5.48	4.6	0.57074	.	0.393578	0.20036	N	0.100616	T	0.04003	0.0112	L	0.51422	1.61	0.09310	N	1	D	0.53462	0.96	P	0.55965	0.788	T	0.01130	-1.1442	10	0.62326	D	0.03	-11.2954	9.7892	0.40695	0.0:0.7856:0.1416:0.0728	rs59719421	469	Q9NWN3	FBX34_HUMAN	F	469	ENSP00000313159:S469F;ENSP00000394117:S469F	ENSP00000313159:S469F	S	+	2	0	FBXO34	54888267	0.215000	0.23574	0.006000	0.13384	0.072000	0.16883	1.083000	0.30815	1.573000	0.49748	-0.127000	0.14921	TCC	C|0.979;T|0.021	0.021	strong		0.433	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			T	55818514	C	T	55818514	3	4	22	1	0	0	0	0	1	0	0	0	5744	855	30	2	1408	2	FBXO34	14	55818514	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111	55818514	51531026	7375	12483	259	2								
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818517	55818517	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacaaagaccagccttccaTtttaaactcctgtgaagacc					rs1045002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55818517T>A	ENST00000313833.4	+	2	1654	c.1409T>A	c.(1408-1410)aTt>aAt	p.I470N	FBXO34_ENST00000440021.1_Missense_Mutation_p.I470N	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	470			I -> N (in dbSNP:rs1045002). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.					p.I470N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCCTTCCATTTTAAACTCC	0.423													A|||	1661	0.331669	0.2322	0.3098	5008	,	,		20331	0.3185		0.4245	False		,,,				2504	0.3998				p.I470N		Atlas-SNP	.											FBXO34,NS,carcinoma,0,1	FBXO34	61	1	1	Substitution - Missense(1)	stomach(1)	c.T1409A						PASS	.	A	ASN/ILE,ASN/ILE	1147,3259	713.6+/-408.3	154,839,1210	115	112	113		1409,1409	-0.8	0	14	dbSNP_86	113	3621,4979	624.3+/-397.6	780,2061,1459	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	149,149	934,2900,2669	AA,AT,TT		42.1047,26.0327,36.66	benign,benign	470/712,470/712	55818517	4768,8238	2203	4300	6503	SO:0001583	missense	55030	exon2			CTTCCATTTTAAA	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1409T>A	14.37:g.55818517T>A	ENSP00000313159:p.Ile470Asn	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	223	126	0.565022	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	748	0.3424908424908425	118	0.23983739837398374	116	0.32044198895027626	191	0.3339160839160839	323	0.4261213720316623	A	0.013	-1.642727	0.00792	0.260327	0.421047	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16457	2.34;2.34	5.48	-0.84	0.10755	.	1.461070	0.04686	N	0.413270	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.12837	0.008	T	0.48139	-0.9061	9	0.15499	T	0.54	-0.416	4.9015	0.13777	0.1197:0.4841:0.1548:0.2414	rs1045002;rs3168901;rs3742568;rs17674186;rs60147901;rs1045002	470	Q9NWN3	FBX34_HUMAN	N	470	ENSP00000313159:I470N;ENSP00000394117:I470N	ENSP00000313159:I470N	I	+	2	0	FBXO34	54888270	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.270000	0.08584	-0.639000	0.05502	-1.546000	0.00904	ATT	A|0.366;N|0.000	0.366	strong		0.423	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			A	55818517	T	A	55818517	3	1	22	1	0	0	0	0	1	0	0	0	5744	1493	52	5	1411	5	FBXO34	14	55818517	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3	55818517	51531023	7376	12484	259	2								
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818706	55818706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgctgagccatttgtacTgccagcctcttctgtggaaa	10	11	3	1	rs3742569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55818706T>C	ENST00000313833.4	+	2	1843	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	FBXO34_ENST00000440021.1_Missense_Mutation_p.L533P	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	533			L -> P (in dbSNP:rs3742569). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.					p.L533P(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCATTTGTACTGCCAGCCTCT	0.502													t|||	1992	0.397764	0.4713	0.3314	5008	,	,		19439	0.3185		0.4245	False		,,,				2504	0.3998				p.L533P		Atlas-SNP	.											FBXO34,NS,carcinoma,0,1	FBXO34	61	1	1	Substitution - Missense(1)	stomach(1)	c.T1598C						PASS	.	C	PRO/LEU,PRO/LEU	1984,2422	617.4+/-393.0	424,1136,643	130	126	127		1598,1598	-1.4	0	14	dbSNP_107	127	3629,4971	625.6+/-397.7	784,2061,1455	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	98,98	1208,3197,2098	CC,CT,TT		42.1977,45.0295,43.157	benign,benign	533/712,533/712	55818706	5613,7393	2203	4300	6503	SO:0001583	missense	55030	exon2			TTGTACTGCCAGC	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1598T>C	14.37:g.55818706T>C	ENSP00000313159:p.Leu533Pro	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	217	107	0.493088	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	857	0.3923992673992674	224	0.45528455284552843	119	0.3287292817679558	191	0.3339160839160839	323	0.4261213720316623	C	0.442	-0.898108	0.02472	0.450295	0.421977	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20069	2.1;2.1	5.49	-1.35	0.09114	.	0.711289	0.12725	N	0.444330	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45512	-0.9256	9	0.42905	T	0.14	-15.7575	11.6878	0.51497	0.0:0.3231:0.0:0.6769	rs3742569;rs17674206;rs52807065;rs61280222;rs3742569	533	Q9NWN3	FBX34_HUMAN	P	533	ENSP00000313159:L533P;ENSP00000394117:L533P	ENSP00000313159:L533P	L	+	2	0	FBXO34	54888459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.774000	0.04684	-0.553000	0.06158	-0.716000	0.03619	CTG	T|0.582;C|0.418	0.418	strong		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			C	55818706	T	C	55818706	3	2	22	1	0	0	0	0	1	0	0	0	5744	1580	55	3	1600	3	FBXO34	14	55818706	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	189	55818706	51530834	7377	12485										
TBPL2	387332	hgsc.bcm.edu	37	chr14	55903716	55903716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgggctgaacaggggagaCctgggtggggcaaggccatc	18	9	0	2	rs45612333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:55903716C>A	ENST00000247219.5	-	2	241	c.171G>T	c.(169-171)agG>agT	p.R57S		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ACAGGGGAGACCTGGGTGGGG	0.453													C|||	237	0.0473243	0.034	0.0677	5008	,	,		20723	0.005		0.0795	False		,,,				2504	0.0613				p.R57S		Atlas-SNP	.											.	TBPL2	27	.	0			c.G171T						PASS	.	C	SER/ARG	151,4231	94.4+/-133.1	2,147,2042	81	86	84		171	0.4	0	14	dbSNP_127	84	762,7824	176.2+/-226.1	37,688,3568	yes	missense	TBPL2	NM_199047.2	110	39,835,5610	AA,AC,CC		8.8749,3.4459,7.0404	benign	57/376	55903716	913,12055	2191	4293	6484	SO:0001583	missense	387332	exon2			GGGAGACCTGGGT	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.171G>T	14.37:g.55903716C>A	ENSP00000247219:p.Arg57Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_199047		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	108	0.04945054945054945	21	0.042682926829268296	30	0.08287292817679558	1	0.0017482517482517483	56	0.07387862796833773	C	0.650	-0.809813	0.02798	0.034459	0.088749	ENSG00000182521	ENST00000247219	T	0.41758	0.99	4.99	0.384	0.16244	.	1.845360	0.02244	N	0.066064	T	0.00936	0.0031	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04386	-1.0955	10	0.07325	T	0.83	11.7785	0.6339	0.00799	0.2488:0.372:0.1409:0.2383	rs45612333	57	Q6SJ96	TBPL2_HUMAN	S	57	ENSP00000247219:R57S	ENSP00000247219:R57S	R	-	3	2	TBPL2	54973469	0.002000	0.14202	0.037000	0.18230	0.480000	0.33159	-0.072000	0.11486	0.507000	0.28148	0.563000	0.77884	AGG	C|0.933;A|0.067	0.067	strong		0.453	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		A	55903716	C	A	55903716	3	1	22	1	0	0	0	0	1	0	0	0	15643	506	18	4	980	4	TBPL2	14	55903716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85010	55903716	51445824	7378	12486										
KTN1	3895	hgsc.bcm.edu	37	chr14	56096686	56096686	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttttaggaaatgatgacAgagaaagaaagaagcaatgt	10	3	1	5	rs74053638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:56096686A>C	ENST00000395314.3	+	7	1160	c.1092A>C	c.(1090-1092)acA>acC	p.T364T	KTN1_ENST00000395309.3_Silent_p.T364T|KTN1_ENST00000413890.2_Silent_p.T364T|KTN1_ENST00000395308.1_Silent_p.T364T|KTN1_ENST00000438792.2_Silent_p.T364T|KTN1_ENST00000395311.1_Silent_p.T364T|KTN1_ENST00000416613.1_Silent_p.T364T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	364					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						AAATGATGACAGAGAAAGAAA	0.274			T	RET	papillary thryoid								A|||	118	0.0235623	0.0825	0.0086	5008	,	,		20073	0.0		0.001	False		,,,				2504	0.002				p.T364T		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1	147	.	0			c.A1092C						PASS	.	A	,,,	315,4091	165.1+/-196.6	12,291,1900	99	101	101		1092,1092,1092,1092	0.4	1	14	dbSNP_130	101	31,8569	21.0+/-64.5	0,31,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KTN1	NM_001079521.1,NM_001079522.1,NM_004986.2,NM_182926.2	,,,	12,322,6169	CC,CA,AA		0.3605,7.1493,2.6603	,,,	364/1358,364/1307,364/1301,364/1358	56096686	346,12660	2203	4300	6503	SO:0001819	synonymous_variant	3895	exon7			GATGACAGAGAAA		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.1092A>C	14.37:g.56096686A>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	146	84	0.575342	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																			A|0.976;C|0.024	0.024	strong		0.274	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			C	56096686	A	C	56096686	2	2	22	1	0	0	0	0	0	0	0	1	8585	175	7	5		5	KTN1	14	56096686	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	192970	56096686	51252854	7379	12487										
KTN1	3895	hgsc.bcm.edu	37	chr14	56096731	56096731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataacaaggatgaaagatcgAattggaacattagaaaagga	10	3	0	3	rs2274075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:56096731A>G	ENST00000395314.3	+	7	1205	c.1137A>G	c.(1135-1137)cgA>cgG	p.R379R	KTN1_ENST00000395309.3_Silent_p.R379R|KTN1_ENST00000413890.2_Silent_p.R379R|KTN1_ENST00000395308.1_Silent_p.R379R|KTN1_ENST00000438792.2_Silent_p.R379R|KTN1_ENST00000395311.1_Silent_p.R379R|KTN1_ENST00000416613.1_Silent_p.R379R	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	379					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						TGAAAGATCGAATTGGAACAT	0.289			T	RET	papillary thryoid								G|||	305	0.0609026	0.0484	0.072	5008	,	,		21066	0.0159		0.0626	False		,,,				2504	0.1145				p.R379R		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	KTN1_ENST00000416613,NS,carcinoma,+1,1	KTN1	147	1	0			c.A1137G						PASS	.	G	,,,	266,4140	800.9+/-415.6	8,250,1945	122	122	122		1137,1137,1137,1137	-0.8	1	14	dbSNP_100	122	845,7755	779.1+/-407.7	43,759,3498	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KTN1	NM_001079521.1,NM_001079522.1,NM_004986.2,NM_182926.2	,,,	51,1009,5443	GG,GA,AA		9.8256,6.0372,8.5422	,,,	379/1358,379/1307,379/1301,379/1358	56096731	1111,11895	2203	4300	6503	SO:0001819	synonymous_variant	3895	exon7			AGATCGAATTGGA		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.1137A>G	14.37:g.56096731A>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	159	63	0.396226	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																			A|0.925;G|0.075	0.075	strong		0.289	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			G	56096731	A	G	56096731	2	3	22	1	0	0	0	0	0	0	0	1	8585	233	9	2		2	KTN1	14	56096731	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45	56096731	51252809	7380	12488										
KTN1	3895	hgsc.bcm.edu	37	chr14	56146357	56146357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacagcagttgcttcaggcGgtaaaccaacagctcacaaa	8	11	2	0	rs11546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:56146357G>A	ENST00000395314.3	+	43	4091	c.4023G>A	c.(4021-4023)gcG>gcA	p.A1341A	KTN1_ENST00000395309.3_Silent_p.A1341A|KTN1_ENST00000413890.2_Silent_p.A1290A|KTN1_ENST00000395308.1_Silent_p.A1290A|KTN1_ENST00000555573.1_Silent_p.A318A|KTN1_ENST00000438792.2_Silent_p.A1284A|KTN1_ENST00000395311.1_Silent_p.A1290A|KTN1_ENST00000416613.1_Silent_p.A1341A|KTN1_ENST00000554507.1_Silent_p.A579A	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1341					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						TGCTTCAGGCGGTAAACCAAC	0.408			T	RET	papillary thryoid								A|||	313	0.0625	0.053	0.0749	5008	,	,		20007	0.0159		0.0626	False		,,,				2504	0.1145				p.A1341A		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1	147	.	0			c.G4023A						PASS	.	A	,,,	277,4129	800.7+/-415.6	8,261,1934	133	132	133		4023,3870,3852,4023	-2.3	0	14	dbSNP_52	133	845,7755	781.1+/-407.6	43,759,3498	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KTN1	NM_001079521.1,NM_001079522.1,NM_004986.2,NM_182926.2	,,,	51,1020,5432	AA,AG,GG		9.8256,6.2869,8.6268	,,,	1341/1358,1290/1307,1284/1301,1341/1358	56146357	1122,11884	2203	4300	6503	SO:0001819	synonymous_variant	3895	exon43			TCAGGCGGTAAAC		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.4023G>A	14.37:g.56146357G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	144	63	0.4375	NM_001079521	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1	113	0.051739926739926737	28	0.056910569105691054	27	0.07458563535911603	7	0.012237762237762238	51	0.06728232189973615	A	6.153	0.396415	0.11638	0.062869	0.098256	ENSG00000126777	ENST00000554294	.	.	.	6.17	-2.35	0.06684	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17258	-1.0375	4	.	.	.	3.4215	0.509	0.00592	0.3443:0.2056:0.2497:0.2004	rs11546;rs1051114;rs3191495;rs10147720;rs17354479;rs17685568	.	.	.	Q	112	.	.	R	+	2	0	KTN1	55216110	0.139000	0.22563	0.010000	0.14722	0.691000	0.40173	-0.219000	0.09228	-0.584000	0.05913	-0.254000	0.11334	CGG	G|0.923;A|0.077	0.077	strong		0.408	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			A	56146357	G	A	56146357	2	1	22	1	0	0	0	0	0	0	0	1	8585	1103	39	1		1	KTN1	14	56146357	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49626	56146357	51203183	7381	12489										
PELI2	57161	hgsc.bcm.edu	37	chr14	56763743	56763743	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgtggacacgtgtgctcGgagaagtctgcaaaatactg	12	10	1	1	rs112097284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:56763743G>T	ENST00000267460.4	+	6	1408	c.1122G>T	c.(1120-1122)tcG>tcT	p.S374S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	374					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						ACGTGTGCTCGGAGAAGTCTG	0.547													G|||	114	0.0227636	0.084	0.0043	5008	,	,		20479	0.0		0.0	False		,,,				2504	0.0				p.S374S		Atlas-SNP	.											.	PELI2	55	.	0			c.G1122T						PASS	.	G		307,4099	164.7+/-196.3	15,277,1911	170	147	155		1122	-4	1	14	dbSNP_132	155	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PELI2	NM_021255.2		15,279,6209	TT,TG,GG		0.0233,6.9678,2.3758		374/421	56763743	309,12697	2203	4300	6503	SO:0001819	synonymous_variant	57161	exon6			GTGCTCGGAGAAG	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.1122G>T	14.37:g.56763743G>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_021255	B2RDY5	Silent	SNP	ENST00000267460.4	37	CCDS9726.1																																																																																			G|0.979;T|0.021	0.021	strong		0.547	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			T	56763743	G	T	56763743	2	4	22	1	0	0	0	0	0	0	0	1	11722	1103	39	4		4	PELI2	14	56763743	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	617386	56763743	50585797	7382	12490										
EXOC5	10640	hgsc.bcm.edu	37	chr14	57676330	57676330	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattcggctacatcacaaatGgccaacatgccacccataca	5	14	1	0	rs1804820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:57676330G>T	ENST00000413566.2	-	17	2252	c.1893C>A	c.(1891-1893)gcC>gcA	p.A631A	EXOC5_ENST00000340918.7_Silent_p.A566A	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	631					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CATCACAAATGGCCAACATGC	0.403													T|||	1396	0.278754	0.8442	0.0994	5008	,	,		14307	0.0883		0.0577	False		,,,				2504	0.0654				p.A631A		Atlas-SNP	.											.	EXOC5	45	.	0			c.C1893A						PASS	.	T		2565,1267		884,797,235	115	104	108		1893	2.8	1	14	dbSNP_89	108	476,7784		13,450,3667	no	coding-synonymous	EXOC5	NM_006544.3		897,1247,3902	TT,TG,GG		5.7627,33.0637,25.1489		631/709	57676330	3041,9051	1916	4130	6046	SO:0001819	synonymous_variant	10640	exon17			ACAAATGGCCAAC	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1893C>A	14.37:g.57676330G>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	163	82	0.503067	NM_006544	B2R6C5	Silent	SNP	ENST00000413566.2	37	CCDS45111.1																																																																																			G|0.765;T|0.235	0.235	strong		0.403	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		T	57676330	G	T	57676330	2	4	22	1	0	0	0	0	0	0	0	1	5307	1335	47	4		4	EXOC5	14	57676330	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	912587	57676330	49673210	7383	12491										
MUDENG	55745	hgsc.bcm.edu	37	chr14	57741550	57741550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaggtaaaatccatgcaAtatgataaacagggtatagc	9	5	0	1	rs1189899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:57741550A>G	ENST00000261558.3	+	2	1069	c.663A>G	c.(661-663)caA>caG	p.Q221Q	AP5M1_ENST00000431972.2_Silent_p.Q235Q	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	221	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											AATCCATGCAATATGATAAAC	0.388													A|||	1364	0.272364	0.8321	0.0879	5008	,	,		17872	0.0655		0.0567	False		,,,				2504	0.0818				p.Q221Q		Atlas-SNP	.											.	.	.	.	0			c.A663G						PASS	.	A		2847,1505		956,935,285	85	94	91		663	-2.3	1	14	dbSNP_87	91	486,8090		12,462,3814	no	coding-synonymous	MUDENG	NM_018229.3		968,1397,4099	GG,GA,AA		5.667,34.5818,25.7812		221/491	57741550	3333,9595	2176	4288	6464	SO:0001819	synonymous_variant	55745	exon2			CATGCAATATGAT	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.663A>G	14.37:g.57741550A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	122	67	0.54918	NM_018229	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Silent	SNP	ENST00000261558.3	37	CCDS9729.1																																																																																			A|0.764;G|0.236	0.236	strong		0.388	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		G	57741550	A	G	57741550	2	3	22	1	0	0	0	0	0	0	0	1	9983	98	4	2		2	MUDENG	14	57741550	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	65220	57741550	49607990	7384	12492										
DACT1	51339	hgsc.bcm.edu	37	chr14	59112732	59112732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagcctcgcaagaacatgCtcggtgttccgccattggga	12	13	0	1	rs17832998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59112732C>T	ENST00000335867.4	+	4	1415	c.1391C>T	c.(1390-1392)gCt>gTt	p.A464V	DACT1_ENST00000541264.2_Missense_Mutation_p.A183V|DACT1_ENST00000556859.1_Missense_Mutation_p.A183V|DACT1_ENST00000395153.3_Missense_Mutation_p.A427V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	464			A -> V (in dbSNP:rs17832998). {ECO:0000269|Ref.3}.		dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAGAACATGCTCGGTGTTCC	0.637													C|||	1350	0.269569	0.2443	0.1902	5008	,	,		16542	0.2738		0.3161	False		,,,				2504	0.3078				p.A464V		Atlas-SNP	.											.	DACT1	119	.	0			c.C1391T						PASS	.	C	VAL/ALA,VAL/ALA	1148,3256	381.4+/-324.0	158,832,1212	47	55	52		1280,1391	2.4	0	14	dbSNP_123	52	2747,5853	407.0+/-349.0	435,1877,1988	yes	missense,missense	DACT1	NM_001079520.1,NM_016651.5	64,64	593,2709,3200	TT,TC,CC		31.9419,26.0672,29.9523	benign,benign	427/800,464/837	59112732	3895,9109	2202	4300	6502	SO:0001583	missense	51339	exon4			AACATGCTCGGTG	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1391C>T	14.37:g.59112732C>T	ENSP00000337439:p.Ala464Val	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	33	17	0.515152	NM_016651	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	590	0.27014652014652013	141	0.2865853658536585	79	0.21823204419889503	137	0.2395104895104895	233	0.3073878627968338	C	7.265	0.606015	0.14002	0.260672	0.319419	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.35	2.42	0.29668	.	0.626485	0.16134	N	0.228059	T	0.00012	0.0000	N	0.25144	0.715	0.80722	P	0.0	B;B	0.19073	0.007;0.033	B;B	0.17979	0.006;0.02	T	0.37753	-0.9692	9	0.27785	T	0.31	-0.8406	8.5845	0.33649	0.0:0.6186:0.2537:0.1277	rs17832998;rs52807238;rs57262719;rs17832998	427;464	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	183;183;427;464;183	ENSP00000451598:A183V;ENSP00000378581:A183V;ENSP00000378582:A427V;ENSP00000337439:A464V;ENSP00000442850:A183V	ENSP00000337439:A464V	A	+	2	0	DACT1	58182485	0.000000	0.05858	0.000000	0.03702	0.418000	0.31294	0.062000	0.14389	0.206000	0.20587	0.563000	0.77884	GCT	C|0.713;T|0.287	0.287	strong		0.637	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		T	59112732	C	T	59112732	3	4	22	1	0	0	0	0	1	0	0	0	4222	797	28	2	1405	2	DACT1	14	59112732	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1371182	59112732	48236808	7385	12493										
DACT1	51339	hgsc.bcm.edu	37	chr14	59113430	59113430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgaggagggcccggcgcGgtcgccgggagaatgtgggg	21	11	0	2	rs698025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59113430G>A	ENST00000335867.4	+	4	2113	c.2089G>A	c.(2089-2091)Ggt>Agt	p.G697S	DACT1_ENST00000541264.2_Missense_Mutation_p.G416S|DACT1_ENST00000556859.1_Missense_Mutation_p.G416S|DACT1_ENST00000395153.3_Missense_Mutation_p.G660S			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	697			G -> S (in dbSNP:rs698025).		dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCCGGCGCGGTCGCCGGGA	0.672													G|||	1353	0.270168	0.4281	0.3343	5008	,	,		11210	0.1508		0.1958	False		,,,				2504	0.2106				p.G697S		Atlas-SNP	.											.	DACT1	119	.	0			c.G2089A						PASS	.	G	SER/GLY,SER/GLY	1574,2826		289,996,915	19	22	21		1978,2089	0.9	0	14	dbSNP_86	21	1642,6942		150,1342,2800	yes	missense,missense	DACT1	NM_001079520.1,NM_016651.5	56,56	439,2338,3715	AA,AG,GG		19.1286,35.7727,24.7689	benign,benign	660/800,697/837	59113430	3216,9768	2200	4292	6492	SO:0001583	missense	51339	exon4			CGGCGCGGTCGCC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2089G>A	14.37:g.59113430G>A	ENSP00000337439:p.Gly697Ser	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	35	23	0.657143	NM_016651	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	548	0.2509157509157509	206	0.4186991869918699	115	0.31767955801104975	80	0.13986013986013987	147	0.19393139841688653	G	0.306	-0.970599	0.02232	0.357727	0.191286	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.32	0.845	0.18950	.	1.464120	0.03992	N	0.294976	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.39522	-0.9610	9	0.10636	T	0.68	-0.416	0.7972	0.01068	0.3771:0.1634:0.2964:0.1632	rs698025	660;697	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	S	416;416;660;697;416	ENSP00000451598:G416S;ENSP00000378581:G416S;ENSP00000378582:G660S;ENSP00000337439:G697S;ENSP00000442850:G416S	ENSP00000337439:G697S	G	+	1	0	DACT1	58183183	0.077000	0.21312	0.000000	0.03702	0.242000	0.25591	1.550000	0.36223	-0.056000	0.13221	-0.244000	0.11960	GGT	G|0.747;T|0.005	.	strong		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113430	G	A	59113430	3	1	22	1	0	0	0	0	1	0	0	0	4222	1116	39	1	2103	1	DACT1	14	59113430	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	698	59113430	48236110	7386	12494										
DAAM1	23002	hgsc.bcm.edu	37	chr14	59789892	59789892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggccacaagaaggttctGcaggccatgctgcactacca	13	12	1	1	rs17096074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59789892G>T	ENST00000395125.1	+	5	746	c.723G>T	c.(721-723)ctG>ctT	p.L241L	DAAM1_ENST00000360909.3_Silent_p.L241L|DAAM1_ENST00000351081.1_Silent_p.L241L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	241	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAAGGTTCTGCAGGCCATGC	0.552													G|||	147	0.029353	0.0053	0.0375	5008	,	,		18273	0.0109		0.0865	False		,,,				2504	0.0164				p.L241L		Atlas-SNP	.											DAAM1,NS,carcinoma,+2,1	DAAM1	95	1	0			c.G723T						scavenged	.	G		67,4339	64.1+/-101.4	0,67,2136	26	26	26		723	5.1	1	14	dbSNP_123	26	784,7816	180.3+/-229.3	32,720,3548	no	coding-synonymous	DAAM1	NM_014992.1		32,787,5684	TT,TG,GG		9.1163,1.5207,6.5431		241/1079	59789892	851,12155	2203	4300	6503	SO:0001819	synonymous_variant	23002	exon6			GGTTCTGCAGGCC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.723G>T	14.37:g.59789892G>T		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	116	63	0.543103	NM_001270520	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																			G|0.945;T|0.055	0.055	strong		0.552	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59789892	G	T	59789892	2	4	22	1	0	0	0	0	0	0	0	1	4215	1306	46	4		4	DAAM1	14	59789892	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	676462	59789892	47559648	7387	12495										
DAAM1	23002	hgsc.bcm.edu	37	chr14	59797235	59797235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagagcacaatgagctacaAcagaaactggaaaagaaaga	10	6	0	5	rs941884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59797235A>G	ENST00000395125.1	+	12	1412	c.1389A>G	c.(1387-1389)caA>caG	p.Q463Q	DAAM1_ENST00000360909.3_Silent_p.Q463Q|DAAM1_ENST00000351081.1_Silent_p.Q463Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	463					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATGAGCTACAACAGAAACTGG	0.368													A|||	3284	0.655751	0.5166	0.6398	5008	,	,		22275	0.8383		0.661	False		,,,				2504	0.6616				p.Q463Q		Atlas-SNP	.											.	DAAM1	95	.	0			c.A1389G						PASS	.	A		2360,2046	607.9+/-391.1	639,1082,482	79	75	76		1389	-0.9	1	14	dbSNP_86	76	5560,3040	660.9+/-401.8	1807,1946,547	no	coding-synonymous	DAAM1	NM_014992.1		2446,3028,1029	GG,GA,AA		35.3488,46.4367,39.105		463/1079	59797235	7920,5086	2203	4300	6503	SO:0001819	synonymous_variant	23002	exon13			GCTACAACAGAAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1389A>G	14.37:g.59797235A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	149	82	0.550336	NM_001270520	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																			A|0.377;G|0.623	0.623	strong		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		G	59797235	A	G	59797235	2	3	22	1	0	0	0	0	0	0	0	1	4215	40	2	2		2	DAAM1	14	59797235	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7343	59797235	47552305	7388	12496										
DAAM1	23002	hgsc.bcm.edu	37	chr14	59797373	59797373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtcaagcagcaggtggcGgacctcacagcacagctcca	11	14	2	0	rs28927674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59797373G>A	ENST00000395125.1	+	12	1550	c.1527G>A	c.(1525-1527)gcG>gcA	p.A509A	DAAM1_ENST00000360909.3_Silent_p.A509A|DAAM1_ENST00000351081.1_Silent_p.A509A	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	509					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGCAGGTGGCGGACCTCACAG	0.522													G|||	153	0.0305511	0.0053	0.0375	5008	,	,		19108	0.0109		0.0924	False		,,,				2504	0.0164				p.A509A		Atlas-SNP	.											DAAM1,colon,carcinoma,+1,1	DAAM1	95	1	0			c.G1527A						PASS	.	G		70,4336	66.4+/-103.9	0,70,2133	71	71	71		1527	-12	0.4	14	dbSNP_125	71	814,7786	188.9+/-235.7	33,748,3519	no	coding-synonymous	DAAM1	NM_014992.1		33,818,5652	AA,AG,GG		9.4651,1.5887,6.7969		509/1079	59797373	884,12122	2203	4300	6503	SO:0001819	synonymous_variant	23002	exon13			GGTGGCGGACCTC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1527G>A	14.37:g.59797373G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	177	76	0.429379	NM_001270520	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																			G|0.939;A|0.061	0.061	strong		0.522	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		A	59797373	G	A	59797373	2	1	22	1	0	0	0	0	0	0	0	1	4215	1103	39	1		1	DAAM1	14	59797373	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138	59797373	47552167	7389	12497										
DAAM1	23002	hgsc.bcm.edu	37	chr14	59821936	59821936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtgccctcaagcagttgCtggaggtggttttggcattt	15	7	1	0	rs61755340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:59821936C>T	ENST00000395125.1	+	20	2463	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L	DAAM1_ENST00000351081.1_Silent_p.L814L|DAAM1_ENST00000360909.3_Silent_p.L804L|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	814	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGCAGTTGCTGGAGGTGGT	0.383													C|||	61	0.0121805	0.0446	0.0029	5008	,	,		23182	0.0		0.0	False		,,,				2504	0.0				p.L814L		Atlas-SNP	.											.	DAAM1	95	.	0			c.C2440T						PASS	.	C		90,4316	73.6+/-111.7	1,88,2114	188	176	180		2440	0.6	0.8	14	dbSNP_129	180	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DAAM1	NM_014992.1		1,92,6410	TT,TC,CC		0.0465,2.0427,0.7227		814/1079	59821936	94,12912	2203	4300	6503	SO:0001819	synonymous_variant	23002	exon20			CAGTTGCTGGAGG	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2440C>T	14.37:g.59821936C>T		Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	280	126	0.45	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																			C|0.993;T|0.007	0.007	strong		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59821936	C	T	59821936	2	4	22	1	0	0	0	0	0	0	0	1	4215	796	28	2		2	DAAM1	14	59821936	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24563	59821936	47527604	7390	12498										
C14orf135	64430	hgsc.bcm.edu	37	chr14	60585282	60585282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcttggtggggtttccccGacctattcagagttggccag	13	10	2	1	rs144345462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:60585282G>A	ENST00000406854.1	+	7	2368	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R605Q|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R371Q|PCNXL4_ENST00000406949.1_Missense_Mutation_p.R371Q			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	605						integral component of membrane (GO:0016021)											GGGTTTCCCCGACCTATTCAG	0.493													G|||	32	0.00638978	0.0242	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0				p.R371Q		Atlas-SNP	.											.	.	.	.	0			c.G1112A						PASS	.	G	GLN/ARG	39,4367	42.3+/-75.8	0,39,2164	70	63	65		1112	6.1	1	14	dbSNP_134	65	0,8600		0,0,4300	yes	missense	C14orf135	NM_022495.5	43	0,39,6464	AA,AG,GG		0.0,0.8852,0.2999	probably-damaging	371/939	60585282	39,12967	2203	4300	6503	SO:0001583	missense	64430	exon6			TTCCCCGACCTAT	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1814G>A	14.37:g.60585282G>A	ENSP00000384801:p.Arg605Gln	Somatic	294	1	0.00340136		WXS	Illumina HiSeq	Phase_I	323	148	0.458204	NM_022495	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	G	36	5.921833	0.97105	0.008852	0.0	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.57436	0.4;0.43;0.65;0.43	6.07	6.07	0.98685	.	.	.	.	.	T	0.46521	0.1397	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67304	-0.5704	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	605;371	Q63HM2;B5MC47	CN135_HUMAN;.	Q	371;605;371;605	ENSP00000317396:R371Q;ENSP00000384801:R605Q;ENSP00000385201:R371Q;ENSP00000385713:R605Q	ENSP00000317396:R371Q	R	+	2	0	C14orf135	59655035	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.126000	0.94411	2.890000	0.99128	0.650000	0.86243	CGA	G|0.991;A|0.009	0.009	strong		0.493	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		A	60585282	G	A	60585282	3	1	22	1	0	0	0	0	1	0	0	0	1745	1058	37	1	1130	1	C14orf135	14	60585282	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	763346	60585282	46764258	7391	12499										
TRMT5	145389	hgsc.bcm.edu	37	chr14	61445981	61445981	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaagacagctgatgatctCgaaggtttaggtgtgcaata	12	5	1	4	rs114005374	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:61445981C>T	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.R212Q|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.R212Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTGATGATCTCGAAGGTTTAG	0.353													C|||	11	0.00219649	0.0083	0.0	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0				p.R212Q		Atlas-SNP	.											TRMT5,caecum,carcinoma,0,1	TRMT5	44	1	1	Substitution - Missense(1)	large_intestine(1)	c.G635A						PASS	.	C	GLN/ARG	11,4395	17.9+/-39.9	0,11,2192	99	93	95		635	4.8	1	14	dbSNP_132	95	0,8600		0,0,4300	yes	missense	TRMT5	NM_020810.2	43	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	probably-damaging	212/510	61445981	11,12995	2203	4300	6503	SO:0001631	upstream_gene_variant	57570	exon2			TGATCTCGAAGGT	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61445981C>T	Exception_encountered	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	129	61	0.472868	NM_020810	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	35	5.439965	0.96168	0.002497	0.0	ENSG00000126814	ENST00000261249	T	0.23754	1.89	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91920	3.255	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.65709	-0.6102	10	0.46703	T	0.11	-9.0897	18.1347	0.89614	0.0:1.0:0.0:0.0	.	212	Q32P41	TRM5_HUMAN	Q	212	ENSP00000261249:R212Q	ENSP00000261249:R212Q	R	-	2	0	TRMT5	60515734	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.317000	0.79018	2.489000	0.83994	0.655000	0.94253	CGA	C|0.999;T|0.001	0.001	strong		0.353	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			T	61445981	C	T	61445981	1	4	22	0	1	0	0	0	0	0	0	0	16564	884	31	1		1	TRMT5	14	61445981	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	860699	61445981	45903559	7392	12500										
TMEM30B	161291	hgsc.bcm.edu	37	chr14	61747644	61747644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcgcacaccgagcagttAccggtgcccgggtcgcctgt	15	15	0	0	rs3196765	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:61747644A>G	ENST00000555868.1	-	1	914	c.222T>C	c.(220-222)ggT>ggC	p.G74G	TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Silent_p.G74G	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	74					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCGAGCAGTTACCGGTGCCCG	0.706													G|||	3905	0.779752	0.6528	0.7392	5008	,	,		11768	0.8591		0.8638	False		,,,				2504	0.8119				p.G74G		Atlas-SNP	.											.	TMEM30B	13	.	0			c.T222C						PASS	.	G		2664,1138		957,750,194	6	5	6		222	4.3	1	14	dbSNP_105	6	6522,954		2863,796,79	no	coding-synonymous	TMEM30B	NM_001017970.2		3820,1546,273	GG,GA,AA		12.7608,29.9316,18.5494		74/352	61747644	9186,2092	1901	3738	5639	SO:0001819	synonymous_variant	161291	exon1			GCAGTTACCGGTG	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.222T>C	14.37:g.61747644A>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	9	9	1	NM_001017970	B3KR84|Q14D00	Silent	SNP	ENST00000555868.1	37	CCDS32093.1																																																																																			A|0.214;G|0.786	0.786	strong		0.706	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		G	61747644	A	G	61747644	2	3	22	1	0	0	0	0	0	0	0	1	16151	378	14	2		2	TMEM30B	14	61747644	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	301663	61747644	45601896	7393	12501										
PRKCH	5583	hgsc.bcm.edu	37	chr14	61857969	61857969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgagccagaggggaaagtAtttgtggtaataacccttac	11	8	0	1	rs2230499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:61857969A>G	ENST00000332981.5	+	2	775	c.390A>G	c.(388-390)gtA>gtG	p.V130V	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	130					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGGGGAAAGTATTTGTGGTAA	0.348													A|||	1390	0.277556	0.4955	0.1873	5008	,	,		17836	0.248		0.163	False		,,,				2504	0.1953				p.V130V	Melanoma(135;863 1779 8064 14443 26348)	Atlas-SNP	.											.	PRKCH	89	.	0			c.A390G						PASS	.	A		1787,2619	523.9+/-371.2	364,1059,780	86	84	85		390	-2.9	1	14	dbSNP_107	85	1375,7225	265.8+/-286.4	103,1169,3028	no	coding-synonymous	PRKCH	NM_006255.3		467,2228,3808	GG,GA,AA		15.9884,40.5583,24.3119		130/684	61857969	3162,9844	2203	4300	6503	SO:0001819	synonymous_variant	5583	exon2			GAAAGTATTTGTG	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.390A>G	14.37:g.61857969A>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	61	25	0.409836	NM_006255	B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	CCDS9752.1																																																																																			A|0.743;G|0.257	0.257	strong		0.348	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		G	61857969	A	G	61857969	2	3	22	1	0	0	0	0	0	0	0	1	12513	436	16	2		2	PRKCH	14	61857969	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	110325	61857969	45491571	7394	12502										
KCNH5	27133	hgsc.bcm.edu	37	chr14	63269180	63269180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatggtttggaactctacCgccaaggcgcgcagacaccc	11	13	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:63269180C>T	ENST00000322893.7	-	9	1957	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A	KCNH5_ENST00000420622.2_Silent_p.A563A|KCNH5_ENST00000394968.1_Silent_p.A505A	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	563					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGAACTCTACCGCCAAGGCGC	0.507																																					p.A563A		Atlas-SNP	.											KCNH5_ENST00000394968,caecum,carcinoma,0,3	KCNH5	320	3	0			c.G1689A						scavenged	.						89	82	84					14																	63269180		2203	4300	6503	SO:0001819	synonymous_variant	27133	exon9			CTCTACCGCCAAG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1689G>A	14.37:g.63269180C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	144	3	0.0208333	NM_172375	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																			.	.	none		0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63269180	C	T	63269180	2	4	22	1	0	0	0	0	0	0	0	1	8035	639	23	1		1	KCNH5	14	63269180	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1411211	63269180	44080360	7395	12503										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64450479	64450479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaacctgccactgatgataAaaaaacaggatcagcccact	7	11	1	3	rs78191145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64450479A>G	ENST00000344113.4	+	18	2238	c.2026A>G	c.(2026-2028)Aaa>Gaa	p.K676E	SYNE2_ENST00000554584.1_Missense_Mutation_p.K676E|SYNE2_ENST00000358025.3_Missense_Mutation_p.K676E|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	676					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTGATGATAAAAAAACAGGA	0.303													A|||	31	0.0061901	0.0234	0.0	5008	,	,		14554	0.0		0.0	False		,,,				2504	0.0				p.K676E		Atlas-SNP	.											.	SYNE2	577	.	0			c.A2026G						PASS	.	A	GLU/LYS,GLU/LYS	85,3501		3,79,1711	40	39	39		2026,2026	3	0.1	14	dbSNP_131	39	0,8130		0,0,4065	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	56,56	3,79,5776	GG,GA,AA		0.0,2.3703,0.7255	probably-damaging,probably-damaging	676/6886,676/6908	64450479	85,11631	1793	4065	5858	SO:0001583	missense	23224	exon18			ATGATAAAAAAAC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2026A>G	14.37:g.64450479A>G	ENSP00000341781:p.Lys676Glu	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	138	80	0.57971	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	A	10.57	1.387852	0.25031	0.023703	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57436	0.76;0.76;0.4	5.56	3.05	0.35203	.	0.110909	0.38778	N	0.001580	T	0.24160	0.0585	L	0.44542	1.39	0.20196	N	0.999925	P;P	0.46064	0.798;0.872	B;P	0.45856	0.3;0.495	T	0.16100	-1.0414	10	0.52906	T	0.07	.	11.2166	0.48830	0.565:0.435:0.0:0.0	.	676;676	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	E	676	ENSP00000350719:K676E;ENSP00000341781:K676E;ENSP00000452570:K676E	ENSP00000261678:K676E	K	+	1	0	SYNE2	63520232	0.770000	0.28543	0.119000	0.21687	0.552000	0.35366	1.368000	0.34216	0.909000	0.36697	0.528000	0.53228	AAA	A|0.996;G|0.004	0.004	strong		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64450479	A	G	64450479	3	3	22	1	0	0	0	0	1	0	0	0	15443	15	1	2	2092	2	SYNE2	14	64450479	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1181299	64450479	42899061	7396	12504										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64461914	64461914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaagggtctcatcaaagaAcatgaggtacaataaagtgt	9	7	2	2	rs34001379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64461914A>G	ENST00000344113.4	+	23	3146	c.2934A>G	c.(2932-2934)gaA>gaG	p.E978E	SYNE2_ENST00000554584.1_Silent_p.E978E|SYNE2_ENST00000358025.3_Silent_p.E978E|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	978					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCATCAAAGAACATGAGGTAC	0.318													A|||	32	0.00638978	0.0242	0.0	5008	,	,		18525	0.0		0.0	False		,,,				2504	0.0				p.E978E		Atlas-SNP	.											SYNE2,rectum,carcinoma,+2,1	SYNE2	577	1	0			c.A2934G						PASS	.	A	,	93,3593		3,87,1753	47	46	46		2934,2934	-0.1	1	14	dbSNP_126	46	0,8152		0,0,4076	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	3,87,5829	GG,GA,AA		0.0,2.5231,0.7856	,	978/6886,978/6908	64461914	93,11745	1843	4076	5919	SO:0001819	synonymous_variant	23224	exon23			CAAAGAACATGAG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2934A>G	14.37:g.64461914A>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	158	78	0.493671	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			A|0.995;G|0.005	0.005	strong		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64461914	A	G	64461914	2	3	22	1	0	0	0	0	0	0	0	1	15443	40	2	2		2	SYNE2	14	64461914	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11435	64461914	42887626	7397	12505										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64519053	64519053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtgatttaaataataccCtagaggacttacggaatcaa	8	7	1	2	rs35960129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64519053C>T	ENST00000344113.4	+	48	8634	c.8422C>T	c.(8422-8424)Cta>Tta	p.L2808L	SYNE2_ENST00000554584.1_Silent_p.L2841L|SYNE2_ENST00000358025.3_Silent_p.L2808L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2808					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATAATACCCTAGAGGACTT	0.383													C|||	120	0.0239617	0.087	0.0072	5008	,	,		20674	0.0		0.0	False		,,,				2504	0.0				p.L2808L		Atlas-SNP	.											.	SYNE2	577	.	0			c.C8422T						PASS	.	C	,	260,3436		11,238,1599	73	68	70		8422,8422	4	0.9	14	dbSNP_126	70	0,8182		0,0,4091	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	11,238,5690	TT,TC,CC		0.0,7.0346,2.1889	,	2808/6886,2808/6908	64519053	260,11618	1848	4091	5939	SO:0001819	synonymous_variant	23224	exon48			AATACCCTAGAGG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8422C>T	14.37:g.64519053C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	114	56	0.491228	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			C|0.990;T|0.010	0.010	strong		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64519053	C	T	64519053	2	4	22	1	0	0	0	0	0	0	0	1	15443	680	24	2		2	SYNE2	14	64519053	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57139	64519053	42830487	7398	12506										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64604634	64604634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaactggaagagcagtggTtgtccctgaacaagaaaatt	10	7	0	3	rs8007874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64604634T>C	ENST00000344113.4	+	79	14988	c.14776T>C	c.(14776-14778)Ttg>Ctg	p.L4926L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L1560L|SYNE2_ENST00000357395.3_Silent_p.L1311L|SYNE2_ENST00000394768.2_Silent_p.L1311L|SYNE2_ENST00000554584.1_Silent_p.L4843L|SYNE2_ENST00000358025.3_Silent_p.L4926L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4926					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGCAGTGGTTGTCCCTGAA	0.512													T|||	228	0.0455272	0.1687	0.0072	5008	,	,		16544	0.0		0.0	False		,,,				2504	0.0				p.L4926L		Atlas-SNP	.											.	SYNE2	577	.	0			c.T14776C						PASS	.	T	,	577,3829	255.5+/-260.7	39,499,1665	83	73	76		14776,14776	-3.5	1	14	dbSNP_116	76	6,8594	3.0+/-9.4	0,6,4294	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	39,505,5959	CC,CT,TT		0.0698,13.0958,4.4825	,	4926/6886,4926/6908	64604634	583,12423	2203	4300	6503	SO:0001819	synonymous_variant	23224	exon79			CAGTGGTTGTCCC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14776T>C	14.37:g.64604634T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	51	0.536842	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			T|0.941;C|0.059	0.059	strong		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64604634	T	C	64604634	2	2	22	1	0	0	0	0	0	0	0	1	15443	1722	60	2		2	SYNE2	14	64604634	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85581	64604634	42744906	7399	12507										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64612845	64612845	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaaaataaaatacagatCttgaacaactggctggaagc	9	6	1	3	rs11629287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64612845C>T	ENST00000344113.4	+	84	15755	c.15543C>T	c.(15541-15543)atC>atT	p.I5181I	SYNE2_ENST00000554584.1_Silent_p.I5098I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.I1815I|SYNE2_ENST00000358025.3_Silent_p.I5181I|SYNE2_ENST00000357395.3_Silent_p.I1566I|SYNE2_ENST00000394768.2_Silent_p.I1566I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5181					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.I5181I(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATACAGATCTTGAACAACT	0.353													T|||	2213	0.441893	0.5726	0.3977	5008	,	,		17561	0.504		0.3469	False		,,,				2504	0.3303				p.I5181I		Atlas-SNP	.											SYNE2,NS,carcinoma,0,1	SYNE2	577	1	1	Substitution - coding silent(1)	prostate(1)	c.C15543T						PASS	.	T	,	2373,2033	561.1+/-380.6	642,1089,472	59	65	63		15543,15543	-1.2	0.8	14	dbSNP_120	63	2918,5682	668.0+/-402.5	502,1914,1884	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	1144,3003,2356	TT,TC,CC		33.9302,46.1416,40.6812	,	5181/6886,5181/6908	64612845	5291,7715	2203	4300	6503	SO:0001819	synonymous_variant	23224	exon84			ACAGATCTTGAAC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15543C>T	14.37:g.64612845C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	191	90	0.471204	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			C|0.567;T|0.433	0.433	strong		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64612845	C	T	64612845	2	4	22	1	0	0	0	0	0	0	0	1	15443	903	32	2		2	SYNE2	14	64612845	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8211	64612845	42736695	7400	12508										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64612858	64612858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacagatcttgaacaactggCtggaagcacaagaagagaga	11	7	1	5	rs10151658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64612858C>A	ENST00000344113.4	+	84	15768	c.15556C>A	c.(15556-15558)Ctg>Atg	p.L5186M	SYNE2_ENST00000554584.1_Missense_Mutation_p.L5103M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1820M|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5186M|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1571M|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1571M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5186			L -> M (in dbSNP:rs10151658). {ECO:0000269|PubMed:12118075, ECO:0000269|PubMed:14702039}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L5186M(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACAACTGGCTGGAAGCACA	0.383													A|||	3164	0.631789	0.9168	0.513	5008	,	,		17217	0.6429		0.4553	False		,,,				2504	0.501				p.L5186M		Atlas-SNP	.											SYNE2,NS,carcinoma,0,1	SYNE2	577	1	1	Substitution - Missense(1)	prostate(1)	c.C15556A						PASS	.	A	MET/LEU,MET/LEU	3745,661	281.4+/-275.9	1603,539,61	68	73	71		15556,15556	-2.1	1	14	dbSNP_119	71	3771,4829	614.9+/-396.3	832,2107,1361	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	15,15	2435,2646,1422	AA,AC,CC		43.8488,15.0023,42.2113	benign,benign	5186/6886,5186/6908	64612858	7516,5490	2203	4300	6503	SO:0001583	missense	23224	exon84			AACTGGCTGGAAG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15556C>A	14.37:g.64612858C>A	ENSP00000341781:p.Leu5186Met	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	204	93	0.455882	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	1340	0.6135531135531136	448	0.9105691056910569	184	0.5082872928176796	368	0.6433566433566433	340	0.44854881266490765	A	2.298	-0.360858	0.05103	0.849977	0.438488	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;3.78;0.71	5.63	-2.1	0.07210	.	0.647372	0.14331	N	0.326332	T	0.00012	0.0000	N	0.05510	-0.035	0.09310	P	0.9999999999999748	B;B;B;B	0.18310	0.002;0.027;0.002;0.006	B;B;B;B	0.17098	0.01;0.017;0.01;0.012	T	0.27020	-1.0086	9	0.15952	T	0.53	.	12.0809	0.53669	0.1859:0.6107:0.0:0.2034	rs10151658;rs17179138;rs58728365;rs10151658	1571;5103;5186;5186	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	5186;1571;5186;5103;5109;1820;1571	ENSP00000350719:L5186M;ENSP00000349969:L1571M;ENSP00000341781:L5186M;ENSP00000452570:L5103M;ENSP00000450831:L1820M;ENSP00000378249:L1571M	ENSP00000261678:L5109M	L	+	1	2	SYNE2	63682611	0.060000	0.20803	0.953000	0.39169	0.324000	0.28378	-0.595000	0.05727	-1.072000	0.03141	-1.140000	0.01884	CTG	C|0.386;A|0.614	0.614	strong		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64612858	C	A	64612858	3	1	22	1	0	0	0	0	1	0	0	0	15443	796	28	4	15886	4	SYNE2	14	64612858	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	64612858	42736682	7401	12509										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64688335	64688335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctgctgctgtggttagcGagtgccaagaaccggaggca	14	9	1	1	rs75079588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64688335G>A	ENST00000344113.4	+	111	20246	c.20034G>A	c.(20032-20034)gcG>gcA	p.A6678A	SYNE2_ENST00000554584.1_Silent_p.A6594A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.A3335A|SYNE2_ENST00000358025.3_Silent_p.A6701A|SYNE2_ENST00000357395.3_Silent_p.A3063A|SYNE2_ENST00000394768.2_Silent_p.A3063A|SYNE2_ENST00000458046.2_Silent_p.A349A|SYNE2_ENST00000554805.1_Silent_p.A461A|SYNE2_ENST00000555022.1_Silent_p.A556A|SYNE2_ENST00000441438.2_Silent_p.A223A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6678					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A6701A(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGGTTAGCGAGTGCCAAGA	0.547													G|||	30	0.00599042	0.0219	0.0014	5008	,	,		18920	0.0		0.0	False		,,,				2504	0.0				p.A6701A		Atlas-SNP	.											SYNE2,NS,carcinoma,0,1	SYNE2	577	1	1	Substitution - coding silent(1)	lung(1)	c.G20103A						PASS	.	G	,,,	88,4318	73.6+/-111.7	1,86,2116	179	174	175		20034,669,1047,20103	-9.2	0	14	dbSNP_131	175	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182910.2,NM_182913.2,NM_182914.2	,,,	1,87,6415	AA,AG,GG		0.0116,1.9973,0.6843	,,,	6678/6886,223/430,349/557,6701/6908	64688335	89,12917	2203	4300	6503	SO:0001819	synonymous_variant	23224	exon112			GTTAGCGAGTGCC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20034G>A	14.37:g.64688335G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	161	88	0.546584	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			G|0.994;A|0.006	0.006	strong		0.547	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64688335	G	A	64688335	2	1	22	1	0	0	0	0	0	0	0	1	15443	1045	37	1		1	SYNE2	14	64688335	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75477	64688335	42661205	7402	12510										
ESR2	2100	hgsc.bcm.edu	37	chr14	64724051	64724051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacagctctccaagagccgCacttggtcgaacaggctgag	11	13	1	2	rs1256049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:64724051C>T	ENST00000341099.4	-	6	1401	c.984G>A	c.(982-984)gtG>gtA	p.V328V	ESR2_ENST00000555278.1_Silent_p.V328V|ESR2_ENST00000353772.3_Silent_p.V328V|ESR2_ENST00000554572.1_Silent_p.V328V|ESR2_ENST00000542956.1_Silent_p.V328V|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_Silent_p.V328V|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000358599.5_Silent_p.V328V|ESR2_ENST00000553796.1_Silent_p.V328V|ESR2_ENST00000357782.2_Silent_p.V328V	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	328	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V328V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCAAGAGCCGCACTTGGTCGA	0.572													C|||	649	0.129593	0.1029	0.0346	5008	,	,		15483	0.4028		0.0358	False		,,,				2504	0.0481				p.V328V		Atlas-SNP	.											ESR2,NS,carcinoma,0,1	ESR2	82	1	1	Substitution - coding silent(1)	stomach(1)	c.G984A	GRCh37	CM010232	ESR2	M	rs1256049	PASS	.	C	,,,,	396,4010	198.7+/-222.5	14,368,1821	105	106	105		984,984,984,984,984	1.7	1	14	dbSNP_87	105	297,8303	109.0+/-169.6	5,287,4008	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	,,,,	19,655,5829	TT,TC,CC		3.4535,8.9877,5.3283	,,,,	328/496,328/496,328/482,328/473,328/531	64724051	693,12313	2203	4300	6503	SO:0001819	synonymous_variant	2100	exon5			GAGCCGCACTTGG	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.984G>A	14.37:g.64724051C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	152	74	0.486842	NM_001214902	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	CCDS9762.1																																																																																			C|0.909;T|0.091	0.091	strong		0.572	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64724051	C	T	64724051	2	4	22	1	0	0	0	0	0	0	0	1	5257	697	25	2		2	ESR2	14	64724051	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35716	64724051	42625489	7403	12511										
PLEKHG3	26030	hgsc.bcm.edu	37	chr14	65197791	65197791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgatgaagaagaggatggCtttgaggtggtggaggatgc	18	2	0	5	rs61742295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:65197791C>A	ENST00000394691.1	+	7	900	c.753C>A	c.(751-753)ggC>ggA	p.G251G	PLEKHG3_ENST00000247226.7_Silent_p.G195G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	251	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						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)		AAGAGGATGGCTTTGAGGTGG	0.577													C|||	215	0.0429313	0.0787	0.0115	5008	,	,		20782	0.0357		0.0099	False		,,,				2504	0.0583				p.G195G		Atlas-SNP	.											.	PLEKHG3	89	.	0			c.C585A						PASS	.	C		308,4098	166.2+/-197.5	13,282,1908	169	150	157		585	4.4	1	14	dbSNP_129	157	79,8521	46.3+/-105.2	0,79,4221	no	coding-synonymous	PLEKHG3	NM_015549.1		13,361,6129	AA,AC,CC		0.9186,6.9905,2.9755		195/1164	65197791	387,12619	2203	4300	6503	SO:0001819	synonymous_variant	26030	exon5			GGATGGCTTTGAG	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.753C>A	14.37:g.65197791C>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	125	73	0.584	NM_015549	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37																																																																																				C|0.974;A|0.026	0.026	strong		0.577	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65197791	C	A	65197791	2	1	22	1	0	0	0	0	0	0	0	1	12070	784	28	4		4	PLEKHG3	14	65197791	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	473740	65197791	42151749	7404	12512										
SPTB	6710	hgsc.bcm.edu	37	chr14	65216120	65216120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggcaggggcaggctctgCgccttgacgcggatgctctg	17	11	2	1	rs57421986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:65216120C>T	ENST00000556626.1	-	36	7033	c.6891G>A	c.(6889-6891)gcG>gcA	p.A2297A	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Silent_p.A2297A			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGCTCTGCGCCTTGACGC	0.632													C|||	523	0.104433	0.2421	0.0346	5008	,	,		13049	0.0317		0.0775	False		,,,				2504	0.0706				p.A2297A		Atlas-SNP	.											.	SPTB	378	.	0			c.G6891A						PASS	.	C		979,3427	354.6+/-312.7	114,751,1338	56	50	52		6891	-9.5	0.4	14	dbSNP_129	52	509,8091	139.8+/-196.4	16,477,3807	no	coding-synonymous	SPTB	NM_001024858.2		130,1228,5145	TT,TC,CC		5.9186,22.2197,11.4409		2297/2329	65216120	1488,11518	2203	4300	6503	SO:0001819	synonymous_variant	6710	exon35			GCTCTGCGCCTTG		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6891G>A	14.37:g.65216120C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	70	40	0.571429	NM_001024858	Q15510|Q15519	Silent	SNP	ENST00000556626.1	37	CCDS32099.1																																																																																			A|0.000;C|0.891;T|0.108	0.108	strong		0.632	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			T	65216120	C	T	65216120	2	4	22	1	0	0	0	0	0	0	0	1	15117	755	27	1		1	SPTB	14	65216120	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18329	65216120	42133420	7405	12513										
SPTB	6710	hgsc.bcm.edu	37	chr14	65241228	65241228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgtcgcttcagcatcacAatggcgccctcttcatccta	6	14	4	0	rs229592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:65241228A>G	ENST00000389721.5	-	23	4892	c.4860T>C	c.(4858-4860)atT>atC	p.I1620I	SPTB_ENST00000542895.1_Silent_p.I1620I|SPTB_ENST00000556626.1_Silent_p.I1620I|SPTB_ENST00000389720.3_Silent_p.I1620I|SPTB_ENST00000389722.3_Silent_p.I1620I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1620					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGCATCACAATGGCGCCCT	0.642													G|||	2396	0.478435	0.848	0.3242	5008	,	,		17956	0.4563		0.2664	False		,,,				2504	0.3292				p.I1620I		Atlas-SNP	.											.	SPTB	378	.	0			c.T4860C						PASS	.	G	,	3180,1186		1187,806,190	18	16	17		4860,4860	-3.9	0.9	14	dbSNP_79	17	1988,6522		256,1476,2523	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	1443,2282,2713	GG,GA,AA		23.3608,27.1645,40.1367	,	1620/2138,1620/2329	65241228	5168,7708	2183	4255	6438	SO:0001819	synonymous_variant	6710	exon23			CATCACAATGGCG		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4860T>C	14.37:g.65241228A>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	127	64	0.503937	NM_001024858	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																			A|0.516;G|0.484	0.484	strong		0.642	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			G	65241228	A	G	65241228	2	3	22	1	0	0	0	0	0	0	0	1	15117	126	5	2		2	SPTB	14	65241228	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25108	65241228	42108312	7406	12514										
SPTB	6710	hgsc.bcm.edu	37	chr14	65242044	65242044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggcagtcgatctccgcCgcctccaccagctgctgccc	9	20	1	0	rs184528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:65242044C>T	ENST00000389721.5	-	22	4673	c.4641G>A	c.(4639-4641)gcG>gcA	p.A1547A	SPTB_ENST00000542895.1_Silent_p.A1547A|SPTB_ENST00000556626.1_Silent_p.A1547A|SPTB_ENST00000389722.3_Silent_p.A1547A|SPTB_ENST00000389720.3_Silent_p.A1547A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1547					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGATCTCCGCCGCCTCCACCA	0.672													C|||	2064	0.412141	0.7746	0.2493	5008	,	,		19430	0.3671		0.1938	False		,,,				2504	0.3088				p.A1547A		Atlas-SNP	.											.	SPTB	378	.	0			c.G4641A						PASS	.	C	,	2996,1410	675.0+/-403.0	1028,940,235	32	26	28		4641,4641	-5	0	14	dbSNP_79	28	1518,7082	281.7+/-295.2	114,1290,2896	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	1142,2230,3131	TT,TC,CC		17.6512,32.0018,34.7071	,	1547/2138,1547/2329	65242044	4514,8492	2203	4300	6503	SO:0001819	synonymous_variant	6710	exon22			CTCCGCCGCCTCC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4641G>A	14.37:g.65242044C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	152	78	0.513158	NM_001024858	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																			C|0.642;T|0.358	0.358	strong		0.672	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65242044	C	T	65242044	2	4	22	1	0	0	0	0	0	0	0	1	15117	639	23	1		1	SPTB	14	65242044	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	816	65242044	42107496	7407	12515										
SPTB	6710	hgsc.bcm.edu	37	chr14	65249052	65249052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacactggtcaggtccttgcCcgggtcgtctgaccgcagct	13	14	2	1	rs17245552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:65249052C>G	ENST00000389721.5	-	19	4254	c.4222G>C	c.(4222-4224)Ggc>Cgc	p.G1408R	SPTB_ENST00000542895.1_Missense_Mutation_p.G1408R|SPTB_ENST00000556626.1_Missense_Mutation_p.G1408R|SPTB_ENST00000389722.3_Missense_Mutation_p.G1408R|SPTB_ENST00000389720.3_Missense_Mutation_p.G1408R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1408			G -> R (in dbSNP:rs17245552).		actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGTCCTTGCCCGGGTCGTCT	0.582													C|||	509	0.101637	0.0938	0.0187	5008	,	,		20009	0.2262		0.0427	False		,,,				2504	0.1033				p.G1408R		Atlas-SNP	.											.	SPTB	378	.	0			c.G4222C						PASS	.	C	ARG/GLY,ARG/GLY	316,4090	169.8+/-200.3	11,294,1898	109	98	101		4222,4222	5.4	1	14	dbSNP_123	101	489,8111	140.5+/-197.0	12,465,3823	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	125,125	23,759,5721	GG,GC,CC		5.686,7.172,6.1895	probably-damaging,probably-damaging	1408/2138,1408/2329	65249052	805,12201	2203	4300	6503	SO:0001583	missense	6710	exon19			CCTTGCCCGGGTC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4222G>C	14.37:g.65249052C>G	ENSP00000374371:p.Gly1408Arg	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	189	84	0.444444	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	212	0.09706959706959707	53	0.10772357723577236	8	0.022099447513812154	117	0.20454545454545456	34	0.044854881266490766	C	29.1	4.980937	0.92982	0.07172	0.05686	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.56941	0.43;0.99;0.43;0.99;0.99;0.43	5.36	5.36	0.76844	.	0.166644	0.53938	D	0.000059	T	0.00241	0.0007	M	0.84219	2.685	0.09310	P	0.99999815977	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.995;0.997;0.989	T	0.00926	-1.1512	9	0.72032	D	0.01	.	18.2137	0.89878	0.0:1.0:0.0:0.0	rs17245552;rs52835393;rs17245552	192;1408;1412	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	R	1412;1408;192;73;1408;1408;1408;1408	ENSP00000374372:G1408R;ENSP00000451324:G73R;ENSP00000451752:G1408R;ENSP00000374371:G1408R;ENSP00000443882:G1408R;ENSP00000374370:G1408R	ENSP00000334218:G192R	G	-	1	0	SPTB	64318805	0.994000	0.37717	1.000000	0.80357	0.985000	0.73830	6.066000	0.71185	2.681000	0.91329	0.462000	0.41574	GGC	C|0.925;G|0.075	0.075	strong		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			G	65249052	C	G	65249052	3	3	22	1	0	0	0	0	1	0	0	0	15117	623	22	4	2901	4	SPTB	14	65249052	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7008	65249052	42100488	7408	12516										
GPHN	10243	hgsc.bcm.edu	37	chr14	67147887	67147887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggataaatctcaaagatctcGtacaagatccttctttgtga	7	8	3	3	rs117256383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:67147887G>T	ENST00000315266.5	+	2	1248	c.127G>T	c.(127-129)Gta>Tta	p.V43L	GPHN_ENST00000459628.1_Missense_Mutation_p.V43L|GPHN_ENST00000305960.9_Missense_Mutation_p.V43L|GPHN_ENST00000543237.1_Missense_Mutation_p.V43L|GPHN_ENST00000478722.1_Missense_Mutation_p.V43L	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	43	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)	p.V43L(1)		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)		CAAAGATCTCGTACAAGATCC	0.303			T	MLL	AL								G|||	15	0.00299521	0.0	0.0029	5008	,	,		14816	0.0		0.0119	False		,,,				2504	0.001				p.V43L		Atlas-SNP	.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	GPHN_ENST00000478722,NS,carcinoma,0,2	GPHN	79	2	1	Substitution - Missense(1)	endometrium(1)	c.G127T						PASS	.	G	LEU/VAL,LEU/VAL	11,4395	16.8+/-37.8	0,11,2192	91	93	92		127,127	5.1	1	14	dbSNP_132	92	122,8478	62.8+/-124.8	0,122,4178	yes	missense,missense	GPHN	NM_001024218.1,NM_020806.4	32,32	0,133,6370	TT,TG,GG		1.4186,0.2497,1.0226	possibly-damaging,possibly-damaging	43/737,43/770	67147887	133,12873	2203	4300	6503	SO:0001583	missense	10243	exon2			GATCTCGTACAAG	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.127G>T	14.37:g.67147887G>T	ENSP00000312771:p.Val43Leu	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	38	21	0.552632	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	G	13.26	2.183452	0.38609	0.002497	0.014186	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.063980	0.64402	D	0.000008	T	0.39091	0.1065	N	0.02120	-0.675	0.47994	D	0.999564	B;B;B;B;B	0.26147	0.005;0.143;0.006;0.023;0.002	B;B;B;B;B	0.26693	0.006;0.072;0.011;0.019;0.006	T	0.48570	-0.9024	10	0.41790	T	0.15	-5.8887	16.0118	0.80409	0.0:0.0:1.0:0.0	.	43;43;43;43;43	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	L	43	ENSP00000312771:V43L;ENSP00000417901:V43L;ENSP00000452220:V43L;ENSP00000438404:V43L;ENSP00000303019:V43L	ENSP00000303019:V43L	V	+	1	0	GPHN	66217640	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.850000	0.75420	2.374000	0.81015	0.579000	0.79373	GTA	G|0.993;T|0.007	0.007	strong		0.303	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		T	67147887	G	T	67147887	3	4	22	1	0	0	0	0	1	0	0	0	6610	1145	40	4	133	4	GPHN	14	67147887	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1898835	67147887	40201653	7409	12517										
PLEKHH1	57475	hgsc.bcm.edu	37	chr14	68023989	68023989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcattgtacttttcaggtgGgtgtcatggaagagaaggta	13	4	3	1	rs149253165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:68023989G>C	ENST00000329153.5	+	4	325	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	65						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTTTCAGGTGGGTGTCATGGA	0.507													G|||	40	0.00798722	0.028	0.0043	5008	,	,		19812	0.0		0.0	False		,,,				2504	0.0				p.G65R		Atlas-SNP	.											.	PLEKHH1	118	.	0			c.G193C						PASS	.	G	ARG/GLY	87,3815		0,87,1864	74	88	83		193	2.5	1	14	dbSNP_134	83	1,8305		0,1,4152	yes	missense	PLEKHH1	NM_020715.2	125	0,88,6016	CC,CG,GG		0.012,2.2296,0.7208	benign	65/1365	68023989	88,12120	1951	4153	6104	SO:0001583	missense	57475	exon4			CAGGTGGGTGTCA	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.193G>C	14.37:g.68023989G>C	ENSP00000330278:p.Gly65Arg	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	92	52	0.565217	NM_020715	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	16	0.007326007326007326	13	0.026422764227642278	3	0.008287292817679558	0	0.0	0	0.0	G	2.631	-0.286399	0.05605	0.022296	1.2E-4	ENSG00000054690	ENST00000329153	T	0.04083	3.71	5.41	2.47	0.30058	.	0.335067	0.36303	N	0.002673	T	0.00936	0.0031	L	0.28014	0.82	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42207	-0.9465	10	0.02654	T	1	.	7.9764	0.30157	0.2765:0.0:0.7235:0.0	.	65	Q9ULM0	PKHH1_HUMAN	R	65	ENSP00000330278:G65R	ENSP00000330278:G65R	G	+	1	0	PLEKHH1	67093742	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.637000	0.24659	0.349000	0.23975	-0.254000	0.11334	GGT	G|0.993;C|0.007	0.007	strong		0.507	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		C	68023989	G	C	68023989	3	2	22	1	0	0	0	0	1	0	0	0	12076	1232	43	4	203	4	PLEKHH1	14	68023989	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	876102	68023989	39325551	7410	12518										
VTI1B	10490	hgsc.bcm.edu	37	chr14	68141105	68141105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcaccggtccccgccgtCcccagcagccgctcgggcac	11	22	1	0	rs2234510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:68141105C>T	ENST00000554659.1	-	1	443	c.102G>A	c.(100-102)ggG>ggA	p.G34G	RP11-1012A1.4_ENST00000553306.1_Intron|RP11-1012A1.4_ENST00000554493.1_Intron	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	34					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCCCCGCCGTCCCCAGCAGCC	0.697													C|||	150	0.0299521	0.1097	0.0072	5008	,	,		8683	0.0		0.0	False		,,,				2504	0.0				p.G34G		Atlas-SNP	.											.	VTI1B	15	.	0			c.G102A						PASS	.	C		347,3945		9,329,1808	8	9	9		102	0.4	0.4	14	dbSNP_98	9	1,8419		0,1,4209	no	coding-synonymous	VTI1B	NM_006370.2		9,330,6017	TT,TC,CC		0.0119,8.0848,2.7376		34/233	68141105	348,12364	2146	4210	6356	SO:0001819	synonymous_variant	10490	exon1			CGCCGTCCCCAGC	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.102G>A	14.37:g.68141105C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	63	32	0.507937	NM_006370	O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	CCDS9786.1																																																																																			C|0.973;T|0.027	0.027	strong		0.697	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			T	68141105	C	T	68141105	2	4	22	1	0	0	0	0	0	0	0	1	17233	842	30	2		2	VTI1B	14	68141105	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117116	68141105	39208435	7411	12519										
RDH12	145226	hgsc.bcm.edu	37	chr14	68193731	68193731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctacctgctcctggagcGgctaaaggtgtctgcccctg	11	15	1	0	rs17852293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:68193731G>A	ENST00000551171.1	+	7	806	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	RDH12_ENST00000539142.1_Missense_Mutation_p.R161Q|RDH12_ENST00000267502.3_Missense_Mutation_p.R161Q	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	161			R -> Q (in dbSNP:rs17852293). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16269441, ECO:0000269|PubMed:21602930}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CTCCTGGAGCGGCTAAAGGTG	0.587													G|||	527	0.105232	0.0885	0.1513	5008	,	,		20733	0.1101		0.1143	False		,,,				2504	0.0808				p.R161Q		Atlas-SNP	.											RDH12,brain,glioma,0,1	RDH12	43	1	0			c.G482A						PASS	.	G	GLN/ARG	421,3985	206.8+/-228.3	17,387,1799	70	63	65		482	0.7	1	14	dbSNP_123	65	1135,7465	233.6+/-266.8	76,983,3241	yes	missense	RDH12	NM_152443.2	43	93,1370,5040	AA,AG,GG		13.1977,9.5552,11.9637	benign	161/317	68193731	1556,11450	2203	4300	6503	SO:0001583	missense	145226	exon7			TGGAGCGGCTAAA	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.482G>A	14.37:g.68193731G>A	ENSP00000449079:p.Arg161Gln	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	241	0.11034798534798534	41	0.08333333333333333	47	0.1298342541436464	64	0.11188811188811189	89	0.11741424802110818	G	10.09	1.253769	0.22965	0.095552	0.131977	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89415	-2.51;-2.51;-2.51	5.66	0.738	0.18319	NAD(P)-binding domain (1);	0.197807	0.44483	N	0.000444	T	0.02342	0.0072	N	0.17901	0.54	0.34473	P	0.297021	B	0.26602	0.154	B	0.21917	0.037	T	0.29119	-1.0022	9	0.25751	T	0.34	.	5.8805	0.18852	0.2948:0.0:0.5847:0.1205	rs17852293	161	Q96NR8	RDH12_HUMAN	Q	161	ENSP00000449079:R161Q;ENSP00000267502:R161Q;ENSP00000438715:R161Q	ENSP00000267502:R161Q	R	+	2	0	RDH12	67263484	1.000000	0.71417	0.984000	0.44739	0.305000	0.27757	2.495000	0.45337	-0.123000	0.11745	-0.895000	0.02911	CGG	G|0.882;A|0.118	0.118	strong		0.587	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68193731	G	A	68193731	3	1	22	1	0	0	0	0	1	0	0	0	13191	1116	39	1	500	1	RDH12	14	68193731	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52626	68193731	39155809	7412	12520										
ZFYVE26	23503	hgsc.bcm.edu	37	chr14	68264867	68264867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgctttggcttctcaggAgggctgcggctactgatctc	12	11	3	1	rs12891164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:68264867A>G	ENST00000347230.4	-	11	2250	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	ZFYVE26_ENST00000555452.1_Silent_p.P704P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	704					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)		GCTTCTCAGGAGGGCTGCGGC	0.522													G|||	3862	0.771166	0.7186	0.7695	5008	,	,		18652	0.9722		0.6223	False		,,,				2504	0.7894				p.P704P		Atlas-SNP	.											.	ZFYVE26	223	.	0			c.T2112C						PASS	.	G		3007,1399	454.9+/-350.8	1029,949,225	52	55	54		2112	2.1	0	14	dbSNP_121	54	5517,3083	468.7+/-367.4	1791,1935,574	no	coding-synonymous	ZFYVE26	NM_015346.3		2820,2884,799	GG,GA,AA		35.8488,31.7522,34.461		704/2540	68264867	8524,4482	2203	4300	6503	SO:0001819	synonymous_variant	23503	exon11			CTCAGGAGGGCTG	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.2112T>C	14.37:g.68264867A>G		Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	184	183	0.994565	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																			A|0.303;G|0.697	0.697	strong		0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68264867	A	G	68264867	2	3	22	1	0	0	0	0	0	0	0	1	17665	291	11	3		3	ZFYVE26	14	68264867	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71136	68264867	39084673	7413	12521										
RAD51L1	5890	hgsc.bcm.edu	37	chr14	68292187	68292187	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatgtttctttaggactttTtatgtctttccccactggag	7	8	2	0	rs114131734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:68292187T>C	ENST00000487270.1	+	3	139	c.91T>C	c.(91-93)Tta>Cta	p.L31L	RAD51B_ENST00000471583.1_Silent_p.L31L|RAD51B_ENST00000390683.3_Silent_p.L31L|RAD51B_ENST00000488612.1_Silent_p.L31L|RAD51B_ENST00000487861.1_Silent_p.L31L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	31	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTAGGACTTTTTATGTCTTTC	0.383								Direct reversal of damage					T|||	45	0.00898562	0.0325	0.0029	5008	,	,		16807	0.0		0.0	False		,,,				2504	0.0				p.L31L		Atlas-SNP	.											.	RAD51B	80	.	0			c.T91C						PASS	.	T	,,	162,4244	111.6+/-149.8	3,156,2044	118	113	115		91,91,91	0.4	1	14	dbSNP_132	115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	RAD51B	NM_002877.5,NM_133509.3,NM_133510.3	,,	3,158,6342	CC,CT,TT		0.0233,3.6768,1.261	,,	31/351,31/385,31/351	68292187	164,12842	2203	4300	6503	SO:0001819	synonymous_variant	5890	exon3			GACTTTTTATGTC	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.91T>C	14.37:g.68292187T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	70	29	0.414286	NM_133509	O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	CCDS9789.1																																																																																			T|0.991;C|0.009	0.009	strong		0.383	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			C	68292187	T	C	68292187	2	2	22	1	0	0	0	0	0	0	0	1	12989	1838	64	2		2	RAD51L1	14	68292187	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27320	68292187	39057353	7414	12522										
SMOC1	64093	hgsc.bcm.edu	37	chr14	70418881	70418881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataagtgaccgtgacccacaGtgcaacctccactgctccag	8	15	0	2	rs3742909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70418881G>A	ENST00000381280.4	+	2	379	c.126G>A	c.(124-126)caG>caA	p.Q42Q	SMOC1_ENST00000361956.3_Silent_p.Q42Q|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	42	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGACCCACAGTGCAACCTCC	0.507													G|||	1087	0.217053	0.0076	0.3718	5008	,	,		20143	0.375		0.2634	False		,,,				2504	0.18				p.Q42Q		Atlas-SNP	.											.	SMOC1	61	.	0			c.G126A						PASS	.	G	,	272,4134	153.7+/-187.2	12,248,1943	126	116	120		126,126	4.5	1	14	dbSNP_107	120	2163,6437	372.1+/-336.5	259,1645,2396	no	coding-synonymous,coding-synonymous	SMOC1	NM_001034852.2,NM_022137.5	,	271,1893,4339	AA,AG,GG		25.1512,6.1734,18.7221	,	42/436,42/435	70418881	2435,10571	2203	4300	6503	SO:0001819	synonymous_variant	64093	exon2			CCCACAGTGCAAC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.126G>A	14.37:g.70418881G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	138	69	0.5	NM_001034852	A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	CCDS9798.1																																																																																			G|0.784;A|0.216	0.216	strong		0.507	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			A	70418881	G	A	70418881	2	1	22	1	0	0	0	0	0	0	0	1	14801	1020	36	2		2	SMOC1	14	70418881	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2126694	70418881	36930659	7415	12523										
SMOC1	64093	hgsc.bcm.edu	37	chr14	70477508	70477508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccaggagaggcagagtgcCctggaagaggcccagcagaa	16	10	0	4	rs3825739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70477508C>T	ENST00000381280.4	+	8	955	c.702C>T	c.(700-702)gcC>gcT	p.A234A	SMOC1_ENST00000361956.3_Silent_p.A234A	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	234	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGCAGAGTGCCCTGGAAGAGG	0.537													C|||	1030	0.205671	0.0061	0.3213	5008	,	,		19744	0.4196		0.173	False		,,,				2504	0.2065				p.A234A		Atlas-SNP	.											SMOC1,colon,carcinoma,+1,1	SMOC1	61	1	0			c.C702T						PASS	.	C	,	212,4194	131.0+/-167.6	10,192,2001	111	118	116		702,702	4.6	1	14	dbSNP_107	116	1567,7033	295.1+/-302.2	143,1281,2876	no	coding-synonymous,coding-synonymous	SMOC1	NM_001034852.2,NM_022137.5	,	153,1473,4877	TT,TC,CC		18.2209,4.8116,13.6783	,	234/436,234/435	70477508	1779,11227	2203	4300	6503	SO:0001819	synonymous_variant	64093	exon8			GAGTGCCCTGGAA	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.702C>T	14.37:g.70477508C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	102	54	0.529412	NM_001034852	A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	CCDS9798.1																																																																																			C|0.825;T|0.175	0.175	strong		0.537	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			T	70477508	C	T	70477508	2	4	22	1	0	0	0	0	0	0	0	1	14801	610	22	2		2	SMOC1	14	70477508	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58627	70477508	36872032	7416	12524										
SLC8A3	6547	hgsc.bcm.edu	37	chr14	70512964	70512964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggaagacattgacggcGttgctgcccgtcacgttgcc	12	14	1	2	rs144234198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70512964G>A	ENST00000381269.2	-	8	3237	c.2484C>T	c.(2482-2484)aaC>aaT	p.N828N	SLC8A3_ENST00000357887.3_Silent_p.N826N|SLC8A3_ENST00000356921.2_Silent_p.N822N|SLC8A3_ENST00000394330.2_Silent_p.N185N|SLC8A3_ENST00000528359.1_Silent_p.N826N|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000216568.7_Silent_p.N199N|SLC8A3_ENST00000534137.1_Silent_p.N825N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	828					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATTGACGGCGTTGCTGCCCG	0.602											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N828N		Atlas-SNP	.											SLC8A3_ENST00000357887,colon,carcinoma,0,2	SLC8A3	234	2	0			c.C2484T						PASS	.	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	49	43	45		597,2478,2475,2466,555,2484	-3.9	0.9	14	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_001130417.1,NM_033262.3,NM_058240.2,NM_182932.1,NM_182936.1,NM_183002.1	,,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,	199/299,826/926,825/925,822/922,185/285,828/928	70512964	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6547	exon8			GACGGCGTTGCTG	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2484C>T	14.37:g.70512964G>A		Somatic	94	0	0	1122	WXS	Illumina HiSeq	Phase_I	148	71	0.47973	NM_183002	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																			G|1.000;A|0.000	0.000	strong		0.602	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			A	70512964	G	A	70512964	2	1	22	1	0	0	0	0	0	0	0	1	14708	1136	40	1		1	SLC8A3	14	70512964	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35456	70512964	36836576	7417	12525										
SLC8A3	6547	hgsc.bcm.edu	37	chr14	70634546	70634546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagaagactcgtagatgCttgatcttgcgagtctctcc	10	9	2	5	rs7161524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70634546C>T	ENST00000381269.2	-	2	1347	c.594G>A	c.(592-594)aaG>aaA	p.K198K	SLC8A3_ENST00000528359.1_Silent_p.K198K|SLC8A3_ENST00000357887.3_Silent_p.K198K|SLC8A3_ENST00000356921.2_Silent_p.K198K|SLC8A3_ENST00000534137.1_Silent_p.K198K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	198					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCGTAGATGCTTGATCTTGC	0.493													C|||	713	0.142372	0.202	0.1124	5008	,	,		21617	0.0089		0.2068	False		,,,				2504	0.1544				p.K198K		Atlas-SNP	.											.	SLC8A3	234	.	0			c.G594A						PASS	.	C	,,,	830,3576	328.3+/-300.5	80,670,1453	86	77	80		594,594,594,594	3.8	1	14	dbSNP_116	80	1594,7006	297.0+/-303.2	169,1256,2875	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	,,,	249,1926,4328	TT,TC,CC		18.5349,18.8379,18.6376	,,,	198/926,198/925,198/922,198/928	70634546	2424,10582	2203	4300	6503	SO:0001819	synonymous_variant	6547	exon2			TAGATGCTTGATC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.594G>A	14.37:g.70634546C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_183002	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																			C|0.830;T|0.170	0.170	strong		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70634546	C	T	70634546	2	4	22	1	0	0	0	0	0	0	0	1	14708	796	28	2		2	SLC8A3	14	70634546	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121582	70634546	36714994	7418	12526										
ADAM21	8747	hgsc.bcm.edu	37	chr14	70924693	70924693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatttgaacacctggtttaTaagataaacagtaatgagac	7	6	0	3	rs45480894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70924693T>C	ENST00000603540.1	+	2	735	c.477T>C	c.(475-477)taT>taC	p.Y159Y	ADAM21_ENST00000267499.3_Silent_p.Y159Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	159					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y159Y(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACCTGGTTTATAAGATAAACA	0.423													T|||	1281	0.255791	0.3094	0.1326	5008	,	,		18949	0.505		0.1203	False		,,,				2504	0.1534				p.Y159Y		Atlas-SNP	.											ADAM21_ENST00000267499,NS,carcinoma,0,1	ADAM21	181	1	1	Substitution - coding silent(1)	stomach(1)	c.T477C						PASS	.	T		72,4182		15,42,2070	39	48	45		477	2.6	0.1	14	dbSNP_127	45	13,8573		1,11,4281	no	coding-synonymous	ADAM21	NM_003813.3		16,53,6351	CC,CT,TT		0.1514,1.6925,0.662		159/723	70924693	85,12755	2127	4293	6420	SO:0001819	synonymous_variant	8747	exon2			GGTTTATAAGATA	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.477T>C	14.37:g.70924693T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	81	19	0.234568	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																			T|0.945;C|0.055	0.055	strong		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			C	70924693	T	C	70924693	2	2	22	1	0	0	0	0	0	0	0	1	243	1413	49	2		2	ADAM21	14	70924693	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	290147	70924693	36424847	7419	12527										
ADAM21	8747	hgsc.bcm.edu	37	chr14	70924955	70924955	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatagtggattccatgtatAagcagttaggtacttacata	8	6	0	0	rs114864695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:70924955A>C	ENST00000603540.1	+	2	997	c.739A>C	c.(739-741)Aag>Cag	p.K247Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.K247Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	247	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.			K -> Q (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K247Q(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTCCATGTATAAGCAGTTAGG	0.358													A|||	1381	0.275759	0.3495	0.147	5008	,	,		18988	0.5218		0.1292	False		,,,				2504	0.1646				p.K247Q		Atlas-SNP	.											ADAM21_ENST00000267499,NS,carcinoma,0,1	ADAM21	181	1	1	Substitution - Missense(1)	stomach(1)	c.A739C						PASS	.						65	76	72					14																	70924955		2202	4300	6502	SO:0001583	missense	8747	exon2			ATGTATAAGCAGT	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.739A>C	14.37:g.70924955A>C	ENSP00000474385:p.Lys247Gln	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	74	32	0.432432	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	542	0.24816849816849818	119	0.241869918699187	54	0.14917127071823205	272	0.4755244755244755	97	0.1279683377308707	A	0	-2.595304	0.00125	.	.	ENSG00000139985	ENST00000267499	T	0.64260	-0.09	3.86	-1.13	0.09775	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.883079	0.09333	N	0.816565	T	0.00012	0.0000	N	0.12920	0.275	0.80722	P	0.0	B	0.12013	0.005	B	0.14023	0.01	T	0.44436	-0.9328	9	0.10636	T	0.68	.	8.183	0.31322	0.508:0.3282:0.1639:0.0	.	247	Q9UKJ8	ADA21_HUMAN	Q	247	ENSP00000267499:K247Q	ENSP00000267499:K247Q	K	+	1	0	ADAM21	69994708	0.000000	0.05858	0.354000	0.25760	0.155000	0.21991	-0.543000	0.06084	-0.012000	0.14223	-1.611000	0.00801	AAG	.	.	weak		0.358	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			C	70924955	A	C	70924955	3	2	22	1	0	0	0	0	1	0	0	0	243	363	13	5	741	5	ADAM21	14	70924955	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	262	70924955	36424585	7420	12528										
MAP3K9	4293	hgsc.bcm.edu	37	chr14	71199452	71199452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcggacattgaccaggggGttgtgggtacatggactcag	15	8	1	1	rs3829955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:71199452G>A	ENST00000554752.2	-	11	2633	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	MAP3K9_ENST00000555993.2_Silent_p.N892N|MAP3K9_ENST00000554146.1_Silent_p.N606N|MAP3K9_ENST00000553414.1_Silent_p.N611N|MAP3K9_ENST00000381250.4_Silent_p.N855N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	878	Pro-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACCAGGGGGTTGTGGGTAC	0.597													G|||	1261	0.251797	0.2163	0.2983	5008	,	,		18132	0.3363		0.2217	False		,,,				2504	0.2106				p.N892N	GBM(114;411 1587 13539 28235 50070)	Atlas-SNP	.											.	MAP3K9	109	.	0			c.C2676T						PASS	.	G		1009,3397	376.1+/-321.9	109,791,1303	99	105	103		2676	1.5	1	14	dbSNP_107	103	1810,6790	326.2+/-317.3	193,1424,2683	no	coding-synonymous	MAP3K9	NM_033141.2		302,2215,3986	AA,AG,GG		21.0465,22.9006,21.6746		892/1119	71199452	2819,10187	2203	4300	6503	SO:0001819	synonymous_variant	4293	exon12			CAGGGGGTTGTGG	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2634C>T	14.37:g.71199452G>A		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	329	181	0.550152	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																				G|0.774;A|0.226	0.226	strong		0.597	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71199452	G	A	71199452	2	1	22	1	0	0	0	0	0	0	0	1	9257	1252	44	2		2	MAP3K9	14	71199452	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	274497	71199452	36150088	7421	12529										
MAP3K9	4293	hgsc.bcm.edu	37	chr14	71202692	71202692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcaccccaagtggaaatgTggagattctgatggggtact	12	8	2	2	rs78155813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:71202692T>C	ENST00000554752.2	-	9	1898	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000555993.2_Silent_p.P633P|MAP3K9_ENST00000381250.4_Intron	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	633					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGGAAATGTGGAGATTCTG	0.453													T|||	59	0.0117812	0.0408	0.0072	5008	,	,		21579	0.0		0.0	False		,,,				2504	0.0				p.P633P	GBM(114;411 1587 13539 28235 50070)	Atlas-SNP	.											.	MAP3K9	109	.	0			c.A1899G						PASS	.	T		85,4321	72.0+/-110.0	1,83,2119	173	148	156		1899	3.2	1	14	dbSNP_132	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K9	NM_033141.2		1,84,6418	CC,CT,TT		0.0116,1.9292,0.6612		633/1119	71202692	86,12920	2203	4300	6503	SO:0001819	synonymous_variant	4293	exon9			GAAATGTGGAGAT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1899A>G	14.37:g.71202692T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	81	44	0.54321	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																				T|0.989;C|0.011	0.011	strong		0.453	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			C	71202692	T	C	71202692	2	2	22	1	0	0	0	0	0	0	0	1	9257	1683	59	2		2	MAP3K9	14	71202692	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3240	71202692	36146848	7422	12530										
MAP3K9	4293	hgsc.bcm.edu	37	chr14	71204973	71204973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacttacccttcatctccCgaggcaagctccttctgacc	7	17	3	1	rs7153601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:71204973C>T	ENST00000554752.2	-	8	1832	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	MAP3K9_ENST00000553414.1_Silent_p.S353S|MAP3K9_ENST00000555993.2_Silent_p.S611S|MAP3K9_ENST00000554146.1_Silent_p.S348S|MAP3K9_ENST00000381250.4_Silent_p.S611S	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	611					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTTCATCTCCCGAGGCAAGCT	0.493													C|||	1084	0.216454	0.1573	0.2565	5008	,	,		19782	0.3363		0.167	False		,,,				2504	0.1953				p.S611S	GBM(114;411 1587 13539 28235 50070)	Atlas-SNP	.											.	MAP3K9	109	.	0			c.G1833A						PASS	.	C		698,3708	293.3+/-282.5	57,584,1562	131	118	122		1833	-6.1	1	14	dbSNP_116	122	1399,7201	270.4+/-288.9	109,1181,3010	no	coding-synonymous	MAP3K9	NM_033141.2		166,1765,4572	TT,TC,CC		16.2674,15.842,16.1233		611/1119	71204973	2097,10909	2203	4300	6503	SO:0001819	synonymous_variant	4293	exon8			ATCTCCCGAGGCA	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1833G>A	14.37:g.71204973C>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	192	89	0.463542	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																				C|0.823;T|0.177	0.177	strong		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			T	71204973	C	T	71204973	2	4	22	1	0	0	0	0	0	0	0	1	9257	639	23	1		1	MAP3K9	14	71204973	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2281	71204973	36144567	7423	12531										
PCNX	22990	hgsc.bcm.edu	37	chr14	71514668	71514668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcagagaccatgctgttGgatctcttctttatgtccat	7	9	3	1	rs78161372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:71514668G>C	ENST00000304743.2	+	22	4751	c.4305G>C	c.(4303-4305)ttG>ttC	p.L1435F	PCNX_ENST00000238570.5_Missense_Mutation_p.L1435F|PCNX_ENST00000439984.3_Missense_Mutation_p.L1324F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1435						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCATGCTGTTGGATCTCTTCT	0.358													G|||	26	0.00519169	0.0174	0.0043	5008	,	,		15956	0.0		0.0	False		,,,				2504	0.0				p.L1435F		Atlas-SNP	.											.	PCNX	198	.	0			c.G4305C						PASS	.	G	PHE/LEU	62,4342	59.3+/-96.0	0,62,2140	129	120	123		4305	3.2	1	14	dbSNP_132	123	0,8598		0,0,4299	yes	missense	PCNX	NM_014982.2	22	0,62,6439	CC,CG,GG		0.0,1.4078,0.4768	possibly-damaging	1435/2342	71514668	62,12940	2202	4299	6501	SO:0001583	missense	22990	exon22			GCTGTTGGATCTC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4305G>C	14.37:g.71514668G>C	ENSP00000304192:p.Leu1435Phe	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	226	102	0.451327	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	7|7	0.003205128205128205|0.003205128205128205	6|6	0.012195121951219513|0.012195121951219513	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.02|14.02	2.412251|2.412251	0.42817|0.42817	0.014078|0.014078	0.0|0.0	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.12147|.	3.14;3.11;2.71|.	5.41|5.41	3.19|3.19	0.36642|0.36642	.|.	0.212294|.	0.41001|.	D|.	0.000979|.	T|T	0.40619|0.40619	0.1124|0.1124	L|L	0.53249|0.53249	1.67|1.67	0.47819|0.47819	D|D	0.999528|0.999528	P;P;P|.	0.50272|.	0.879;0.609;0.933|.	P;B;B|.	0.47573|.	0.55;0.235;0.441|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.02654|.	T|.	1|.	.|.	2.1506|2.1506	0.03798|0.03798	0.3175:0.0:0.433:0.2494|0.3175:0.0:0.433:0.2494	.|.	1435;1324;1435|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	F|S	1435;1435;1324|494	ENSP00000304192:L1435F;ENSP00000238570:L1435F;ENSP00000396617:L1324F|.	ENSP00000238570:L1435F|.	L|W	+|+	3|2	2|0	PCNX|PCNX	70584421|70584421	0.927000|0.927000	0.31430|0.31430	0.978000|0.978000	0.43139|0.43139	0.996000|0.996000	0.88848|0.88848	0.071000|0.071000	0.14594|0.14594	1.412000|1.412000	0.46977|0.46977	0.655000|0.655000	0.94253|0.94253	TTG|TGG	G|0.995;C|0.005	0.005	strong		0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		C	71514668	G	C	71514668	3	2	22	1	0	0	0	0	1	0	0	0	11591	1339	47	4	4391	4	PCNX	14	71514668	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	309695	71514668	35834872	7424	12532										
PAPLN	89932	hgsc.bcm.edu	37	chr14	73711394	73711394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacacctggggaccctggAgccagtggagcccctgcagc	15	14	0	1	rs2280792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:73711394A>G	ENST00000554301.1	+	2	260	c.97A>G	c.(97-99)Agc>Ggc	p.S33G	PAPLN_ENST00000381166.3_Missense_Mutation_p.S33G|RP4-647C14.2_ENST00000554614.1_RNA|RNU6-419P_ENST00000517030.1_RNA|PAPLN_ENST00000555445.1_Missense_Mutation_p.S33G|PAPLN_ENST00000340738.5_Missense_Mutation_p.S33G|PAPLN_ENST00000427855.1_Missense_Mutation_p.S33G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	33	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.		S -> G (in dbSNP:rs2280792).			basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGACCCTGGAGCCAGTGGAG	0.642													G|||	1192	0.238019	0.1974	0.2824	5008	,	,		15588	0.4236		0.1243	False		,,,				2504	0.1871				p.S33G		Atlas-SNP	.											.	PAPLN	180	.	0			c.A97G						PASS	.	G	GLY/SER	874,3504		94,686,1409	16	15	15		97	5.1	1	14	dbSNP_100	15	1026,7564		72,882,3341	yes	missense	PAPLN	NM_173462.3	56	166,1568,4750	GG,GA,AA		11.9441,19.9635,14.6514	benign	33/1252	73711394	1900,11068	2189	4295	6484	SO:0001583	missense	89932	exon3			CCCTGGAGCCAGT	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.97A>G	14.37:g.73711394A>G	ENSP00000451803:p.Ser33Gly	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		530	0.24267399267399267	104	0.21138211382113822	91	0.2513812154696133	231	0.40384615384615385	104	0.13720316622691292	G	15.61	2.883704	0.51908	0.199635	0.119441	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000394134;ENST00000554301;ENST00000555445	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.1	5.1	0.69264	.	.	.	.	.	T	0.00012	0.0000	N	0.10707	0.03	0.40430	P	0.020066999999999946	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41448	-0.9508	8	0.07644	T	0.81	.	11.9223	0.52799	0.0811:0.0:0.9189:0.0	rs2280792;rs2280792	33;33;33	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	G	33	ENSP00000345395:S33G;ENSP00000403403:S33G;ENSP00000370558:S33G;ENSP00000451803:S33G;ENSP00000451729:S33G	ENSP00000216658:S33G	S	+	1	0	PAPLN	72781147	1.000000	0.71417	0.995000	0.50966	0.885000	0.51271	3.379000	0.52440	1.407000	0.46875	-0.215000	0.12644	AGC	A|0.795;G|0.205	0.205	strong		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		G	73711394	A	G	73711394	3	3	22	1	0	0	0	0	1	0	0	0	11428	304	11	3	103	3	PAPLN	14	73711394	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2196726	73711394	33638146	7425	12533										
PAPLN	89932	hgsc.bcm.edu	37	chr14	73716774	73716774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctgtggttgatgggacGccctgcgagcctggcaagag	18	9	0	2	rs177393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:73716774G>A	ENST00000554301.1	+	5	580	c.417G>A	c.(415-417)acG>acA	p.T139T	PAPLN_ENST00000427855.1_Silent_p.T139T|PAPLN_ENST00000555445.1_Silent_p.T139T|PAPLN_ENST00000340738.5_Silent_p.T139T|PAPLN_ENST00000381166.3_Silent_p.T139T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	139						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TTGATGGGACGCCCTGCGAGC	0.637													G|||	1679	0.335264	0.4576	0.2925	5008	,	,		17768	0.1458		0.3042	False		,,,				2504	0.4274				p.T139T		Atlas-SNP	.											.	PAPLN	180	.	0			c.G417A						PASS	.	G		1913,2493	541.0+/-375.7	395,1123,685	104	78	87		417	-9.7	0.6	14	dbSNP_79	87	2771,5829	434.6+/-357.8	460,1851,1989	no	coding-synonymous	PAPLN	NM_173462.3		855,2974,2674	AA,AG,GG		32.2209,43.4181,36.0141		139/1252	73716774	4684,8322	2203	4300	6503	SO:0001819	synonymous_variant	89932	exon6			TGGGACGCCCTGC	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.417G>A	14.37:g.73716774G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	121	57	0.471074	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																				G|0.667;A|0.333	0.333	strong		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		A	73716774	G	A	73716774	2	1	22	1	0	0	0	0	0	0	0	1	11428	1074	38	1		1	PAPLN	14	73716774	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5380	73716774	33632766	7426	12534										
PAPLN	89932	hgsc.bcm.edu	37	chr14	73727509	73727509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgacagcaccgggggcaTgcccaggtcaagggcagtgg	18	10	1	1	rs177389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:73727509T>G	ENST00000554301.1	+	16	2241	c.2078T>G	c.(2077-2079)aTg>aGg	p.M693R	PAPLN_ENST00000427855.1_Missense_Mutation_p.M693R|PAPLN_ENST00000555445.1_Missense_Mutation_p.M693R|PAPLN_ENST00000340738.5_Missense_Mutation_p.M666R|PAPLN_ENST00000381166.3_Missense_Mutation_p.M693R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	693				M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123). {ECO:0000305}.		basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCGGGGGCATGCCCAGGTCA	0.647													G|||	3286	0.65615	0.7481	0.6801	5008	,	,		15634	0.7103		0.4841	False		,,,				2504	0.636				p.M666R		Atlas-SNP	.											.	PAPLN	180	.	0			c.T1997G						PASS	.	G	ARG/MET	3585,821		1484,617,102	44	42	43		1997	3.7	0	14	dbSNP_79	43	4465,4135		1180,2105,1015	yes	missense	PAPLN	NM_173462.3	91	2664,2722,1117	GG,GT,TT		48.0814,18.6337,38.1055	benign	666/1252	73727509	8050,4956	2203	4300	6503	SO:0001583	missense	89932	exon16			GGGGCATGCCCAG	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2078T>G	14.37:g.73727509T>G	ENSP00000451803:p.Met693Arg	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		1453	0.6652930402930403	421	0.8556910569105691	245	0.6767955801104972	405	0.708041958041958	382	0.503957783641161	G	0.498	-0.872174	0.02570	0.813663	0.519186	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62105	0.05;0.05;0.36;0.05;0.21	4.57	3.65	0.41850	.	.	.	.	.	T	0.00012	0.0000	N	0.00146	-1.995	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36335	-0.9752	8	0.13470	T	0.59	.	9.7617	0.40537	0.0:0.0:0.6233:0.3767	rs177389;rs1735108	693;693;666	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	666;693;693;693;693	ENSP00000345395:M666R;ENSP00000403403:M693R;ENSP00000370558:M693R;ENSP00000451803:M693R;ENSP00000451729:M693R	ENSP00000216658:M693R	M	+	2	0	PAPLN	72797262	0.342000	0.24809	0.029000	0.17559	0.255000	0.26057	1.696000	0.37773	0.630000	0.30394	-0.217000	0.12591	ATG	C|0.003;G|0.633;T|0.364	0.633	strong		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		G	73727509	T	G	73727509	3	3	22	1	0	0	0	0	1	0	0	0	11428	1464	51	5	2055	5	PAPLN	14	73727509	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10735	73727509	33622031	7427	12535										
PAPLN	89932	hgsc.bcm.edu	37	chr14	73731012	73731012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcacccggccaggccgCgactcccagaagatccaact	11	17	0	2	rs151179834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:73731012C>T	ENST00000554301.1	+	20	3118	c.2955C>T	c.(2953-2955)cgC>cgT	p.R985R	PAPLN_ENST00000427855.1_Silent_p.R985R|PAPLN_ENST00000555445.1_Silent_p.R969R|PAPLN_ENST00000340738.5_Silent_p.R958R|PAPLN_ENST00000381166.3_Silent_p.R985R|PAPLN_ENST00000554314.1_3'UTR			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	985	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGCCAGGCCGCGACTCCCAGA	0.652													C|||	64	0.0127796	0.0015	0.0303	5008	,	,		15789	0.001		0.0258	False		,,,				2504	0.0143				p.R958R		Atlas-SNP	.											.	PAPLN	180	.	0			c.C2874T						PASS	.	C		18,4388	24.3+/-50.5	1,16,2186	61	65	64		2874	-8.2	0	14	dbSNP_134	64	175,8425	80.1+/-142.7	0,175,4125	no	coding-synonymous	PAPLN	NM_173462.3		1,191,6311	TT,TC,CC		2.0349,0.4085,1.4839		958/1252	73731012	193,12813	2203	4300	6503	SO:0001819	synonymous_variant	89932	exon20			AGGCCGCGACTCC	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2955C>T	14.37:g.73731012C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	106	58	0.54717	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																				C|0.984;T|0.016	0.016	strong		0.652	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		T	73731012	C	T	73731012	2	4	22	1	0	0	0	0	0	0	0	1	11428	755	27	1		1	PAPLN	14	73731012	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3503	73731012	33618528	7428	12536										
ACOT1	641371	hgsc.bcm.edu	37	chr14	74008304	74008304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttgctgtgatggctctgGcttactataactatgaagac	10	7	1	3	rs146335256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74008304G>A	ENST00000311148.4	+	2	873	c.565G>A	c.(565-567)Gct>Act	p.A189T	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.A189T|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	189					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GATGGCTCTGGCTTACTATAA	0.527													-|||	78	0.0155751	0.0552	0.0072	5008	,	,		9026	0.0		0.0	False		,,,				2504	0.0				p.A189T		Atlas-SNP	.											.	ACOT1	12	.	0			c.G565A						PASS	.	G	THR/ALA,,	147,3835		36,75,1880	224	174	192		565,,	3.6	1	14	dbSNP_134	192	2,7196		1,0,3598	no	missense,intron,intron	HEATR4,ACOT1	NM_001037161.1,NM_001220484.1,NM_203309.2	58,,	37,75,5478	AA,AG,GG		0.0278,3.6916,1.3327	,,	189/422,,	74008304	149,11031	1991	3599	5590	SO:0001583	missense	641371	exon2			GCTCTGGCTTACT	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.565G>A	14.37:g.74008304G>A	ENSP00000311224:p.Ala189Thr	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	258	257	0.996124	NM_001037161	A1L173|Q3I5F9	Missense_Mutation	SNP	ENST00000311148.4	37	CCDS32117.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	-	15.12	2.737774	0.49045	0.036916	2.78E-4	ENSG00000184227	ENST00000311148;ENST00000557556	T;T	0.42513	0.97;0.97	3.61	3.61	0.41365	.	0.149549	0.64402	D	0.000013	T	0.42743	0.1216	H	0.94345	3.525	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.75634	-0.3250	10	0.87932	D	0	-10.4661	15.853	0.78947	0.0:0.0:1.0:0.0	.	189;189	E9KL42;Q86TX2	.;ACOT1_HUMAN	T	189	ENSP00000311224:A189T;ENSP00000451764:A189T	ENSP00000311224:A189T	A	+	1	0	ACOT1	73078057	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.637000	0.67854	2.022000	0.59522	0.423000	0.28283	GCT	G|0.989;A|0.011	0.011	strong		0.527	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		A	74008304	G	A	74008304	3	1	22	1	0	0	0	0	1	0	0	0	148	1203	42	2	571	2	ACOT1	14	74008304	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	277292	74008304	33341236	7429	12537										
ACOT1	641371	hgsc.bcm.edu	37	chr14	74009937	74009937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcgtcaacagaaatcgcAtcaaggtgaccaaagatggc	12	9	2	3	rs377598014		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74009937A>G	ENST00000311148.4	+	3	1152	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.I256V|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	282					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CAGAAATCGCATCAAGGTGAC	0.552																																					p.I282V		Atlas-SNP	.											.	ACOT1	12	.	0			c.A844G						PASS	.	A	VAL/ILE,,	1,4395		0,1,2197	84	65	72		844,,	-4.8	0	14		72	0,8584		0,0,4292	no	missense,intron,intron	HEATR4,ACOT1	NM_001037161.1,NM_001220484.1,NM_203309.2	29,,	0,1,6489	GG,GA,AA		0.0,0.0227,0.0077	,,	282/422,,	74009937	1,12979	2198	4292	6490	SO:0001583	missense	641371	exon3			AATCGCATCAAGG	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.844A>G	14.37:g.74009937A>G	ENSP00000311224:p.Ile282Val	Somatic	659	0	0		WXS	Illumina HiSeq	Phase_I	906	319	0.352097	NM_001037161	A1L173|Q3I5F9	Missense_Mutation	SNP	ENST00000311148.4	37	CCDS32117.1	.	.	.	.	.	.	.	.	.	.	-	7.679	0.688575	0.14973	2.27E-4	0.0	ENSG00000184227	ENST00000311148;ENST00000557556	T;T	0.28895	1.59;1.59	4.06	-4.76	0.03229	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.642575	0.16665	N	0.204604	T	0.14830	0.0358	N	0.25789	0.76	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.11794	T	0.64	-8.1147	9.7986	0.40751	0.127:0.2638:0.6092:0.0	.	282	Q86TX2	ACOT1_HUMAN	V	282;256	ENSP00000311224:I282V;ENSP00000451764:I256V	ENSP00000311224:I282V	I	+	1	0	ACOT1	73079690	0.000000	0.05858	0.014000	0.15608	0.043000	0.13939	-2.813000	0.00753	-0.728000	0.04882	0.324000	0.21423	ATC	.	.	weak		0.552	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		G	74009937	A	G	74009937	3	3	22	1	0	0	0	0	1	0	0	0	148	217	8	2	854	2	ACOT1	14	74009937	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1633	74009937	33339603	7430	12538										
C14orf43	91748	hgsc.bcm.edu	37	chr14	74203789	74203789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagcagggttctgttcaGgacccttcccgtcctcatca	9	15	5	0	rs17782124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74203789G>A	ENST00000286523.5	-	3	2443	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P554L|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	554			P -> L (in dbSNP:rs17782124). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTTCTGTTCAGGACCCTTCCC	0.607													G|||	766	0.152955	0.0507	0.1182	5008	,	,		17647	0.1409		0.1839	False		,,,				2504	0.2965				p.P554L		Atlas-SNP	.											.	.	.	.	0			c.C1661T						PASS	.	G	LEU/PRO,LEU/PRO	284,4122	157.0+/-190.0	12,260,1931	98	82	88		1661,1661	-0.3	0	14	dbSNP_123	88	1667,6933	307.6+/-308.5	164,1339,2797	yes	missense,missense	C14orf43	NM_001043318.1,NM_194278.3	98,98	176,1599,4728	AA,AG,GG		19.3837,6.4458,15.0008	benign,benign	554/1046,554/1046	74203789	1951,11055	2203	4300	6503	SO:0001583	missense	91748	exon3			TGTTCAGGACCCT	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.1661C>T	14.37:g.74203789G>A	ENSP00000286523:p.Pro554Leu	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	134	68	0.507463	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	301	0.13782051282051283	32	0.06504065040650407	48	0.13259668508287292	82	0.14335664335664336	139	0.18337730870712401	G	9.069	0.996364	0.19043	0.064458	0.193837	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15372	2.43;2.43;2.43;2.44	5.24	-0.259	0.12971	.	1.035740	0.07600	N	0.923432	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43212	-0.9405	9	0.35671	T	0.21	0.7439	3.6785	0.08301	0.3888:0.0:0.2685:0.3428	rs17782124;rs52804069;rs17782124	554;554	A0PJD3;Q6PJG2	.;CN043_HUMAN	L	554	ENSP00000377634:P554L;ENSP00000286523:P554L;ENSP00000407767:P554L;ENSP00000402380:P554L	ENSP00000286523:P554L	P	-	2	0	C14orf43	73273542	0.997000	0.39634	0.000000	0.03702	0.822000	0.46500	0.506000	0.22658	-0.216000	0.10048	-0.182000	0.12963	CCT	G|0.856;A|0.144	0.144	strong		0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74203789	G	A	74203789	3	1	22	1	0	0	0	0	1	0	0	0	1774	1000	35	2	1516	2	C14orf43	14	74203789	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	193852	74203789	33145751	7431	12539										
C14orf43	91748	hgsc.bcm.edu	37	chr14	74205878	74205878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttgctgcgagggttgctgCggcatggaatagaagttctc	16	7	1	1	rs17782128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74205878C>T	ENST00000286523.5	-	2	1616	c.834G>A	c.(832-834)ccG>ccA	p.P278P	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.P278P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	278	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										AGGGTTGCTGCGGCATGGAAT	0.627													c|||	760	0.151757	0.0469	0.1182	5008	,	,		15558	0.1409		0.1839	False		,,,				2504	0.2955				p.P278P		Atlas-SNP	.											C14orf43,bladder,carcinoma,-1,1	.	.	1	0			c.G834A						PASS	.	A	,	275,4131	149.5+/-183.7	12,251,1940	29	31	30		834,834	-1	0.9	14	dbSNP_123	30	1666,6934	297.9+/-303.7	162,1342,2796	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	174,1593,4736	TT,TC,CC		19.3721,6.2415,14.9239	,	278/1046,278/1046	74205878	1941,11065	2203	4300	6503	SO:0001819	synonymous_variant	91748	exon2			TTGCTGCGGCATG	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.834G>A	14.37:g.74205878C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	113	52	0.460177	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																			C|0.861;T|0.139	0.139	strong		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74205878	C	T	74205878	2	4	22	1	0	0	0	0	0	0	0	1	1774	755	27	1		1	C14orf43	14	74205878	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2089	74205878	33143662	7432	12540										
C14orf43	91748	hgsc.bcm.edu	37	chr14	74206658	74206658	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctggttcctggcccccGaagaggcaacgcttccgctt	13	14	0	1	rs758773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74206658G>A	ENST00000286523.5	-	2	836	c.54C>T	c.(52-54)ttC>ttT	p.F18F	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.F18F	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTGGCCCCCGAAGAGGCAAC	0.647													G|||	766	0.152955	0.0507	0.1182	5008	,	,		18910	0.1419		0.1839	False		,,,				2504	0.2955				p.F18F		Atlas-SNP	.											.	.	.	.	0			c.C54T						PASS	.	G	,	286,4120	150.7+/-184.7	12,262,1929	43	47	46		54,54	0.1	1	14	dbSNP_86	46	1665,6935	290.1+/-299.6	163,1339,2798	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	175,1601,4727	AA,AG,GG		19.3605,6.4911,15.0008	,	18/1046,18/1046	74206658	1951,11055	2203	4300	6503	SO:0001819	synonymous_variant	91748	exon2			GCCCCCGAAGAGG	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.54C>T	14.37:g.74206658G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	128	56	0.4375	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																			G|0.859;A|0.141	0.141	strong		0.647	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74206658	G	A	74206658	2	1	22	1	0	0	0	0	0	0	0	1	1774	1049	37	1		1	C14orf43	14	74206658	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	780	74206658	33142882	7433	12541										
ENTPD5	957	hgsc.bcm.edu	37	chr14	74454675	74454675	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccatacaaggtgctggcgCtgacattgatggggcacatg	13	9	0	2	rs60372237	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74454675C>G	ENST00000334696.6	-	4	450	c.131G>C	c.(130-132)aGc>aCc	p.S44T	ENTPD5_ENST00000557325.1_Missense_Mutation_p.S44T|ENTPD5_ENST00000556242.1_Missense_Mutation_p.S44T|ENTPD5_ENST00000554664.1_5'Flank	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	44					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGTGCTGGCGCTGACATTGAT	0.493													C|||	17	0.00339457	0.0129	0.0	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0				p.S44T		Atlas-SNP	.											.	ENTPD5	26	.	0			c.G131C						PASS	.	C	THR/SER	21,4385	28.1+/-56.4	0,21,2182	115	100	105		131	5.2	1	14	dbSNP_129	105	0,8600		0,0,4300	yes	missense	ENTPD5	NM_001249.2	58	0,21,6482	GG,GC,CC		0.0,0.4766,0.1615	benign	44/429	74454675	21,12985	2203	4300	6503	SO:0001583	missense	957	exon4			CTGGCGCTGACAT	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.131G>C	14.37:g.74454675C>G	ENSP00000335246:p.Ser44Thr	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_001249	A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	13.72	2.320324	0.41096	0.004766	0.0	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284;ENST00000556242	T;T;T	0.30714	2.26;2.52;1.52	5.2	5.2	0.72013	.	0.672949	0.15537	N	0.257193	T	0.09291	0.0229	N	0.19112	0.55	0.24994	N	0.991512	B;B	0.22146	0.065;0.053	B;B	0.18561	0.022;0.013	T	0.11446	-1.0587	10	0.13470	T	0.59	-12.6302	10.8164	0.46578	0.0:0.9069:0.0:0.0931	rs60372237	44;44	O75356;G3V4I0	ENTP5_HUMAN;.	T	44	ENSP00000451810:S44T;ENSP00000335246:S44T;ENSP00000451591:S44T	ENSP00000335246:S44T	S	-	2	0	ENTPD5	73524428	0.858000	0.29795	1.000000	0.80357	0.972000	0.66771	1.528000	0.35985	2.708000	0.92522	0.551000	0.68910	AGC	C|0.997;G|0.003	0.003	strong		0.493	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		G	74454675	C	G	74454675	3	3	22	1	0	0	0	0	1	0	0	0	5142	797	28	4	1207	4	ENTPD5	14	74454675	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	248017	74454675	32894865	7434	12542										
TMEM90A	646658	hgsc.bcm.edu	37	chr14	74876181	74876181	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctgtcctctgtgaagctTgtctcacagctgcctgccct	8	16	2	1	rs12590672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74876181T>G	ENST00000554823.1	-	1	328	c.267A>C	c.(265-267)acA>acC	p.T89T	SYNDIG1L_ENST00000331628.3_Silent_p.T89T			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	89					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTGTGAAGCTTGTCTCACAGC	0.647													G|||	2307	0.460663	0.472	0.4222	5008	,	,		14317	0.4454		0.494	False		,,,				2504	0.454				p.T89T		Atlas-SNP	.											.	SYNDIG1L	24	.	0			c.A267C						PASS	.	G		1773,2063		420,933,565	42	45	44		267	1.7	1	14	dbSNP_120	44	4113,4145		1033,2047,1049	no	coding-synonymous	SYNDIG1L	NM_001105579.1		1453,2980,1614	GG,GT,TT		49.8062,46.22,48.6688		89/239	74876181	5886,6208	1918	4129	6047	SO:0001819	synonymous_variant	646658	exon2			GAAGCTTGTCTCA		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.267A>C	14.37:g.74876181T>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_001105579		Silent	SNP	ENST00000554823.1	37	CCDS41970.1																																																																																			T|0.508;G|0.492	0.492	strong		0.647	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		G	74876181	T	G	74876181	2	3	22	1	0	0	0	0	0	0	0	1	16215	1799	63	5		5	TMEM90A	14	74876181	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	421506	74876181	32473359	7435	12543										
LTBP2	4053	hgsc.bcm.edu	37	chr14	74973926	74973926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggaagccaggctggcagCccagaacacagcggtaggag	16	10	0	1	rs139481866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:74973926C>A	ENST00000261978.4	-	26	4249	c.3863G>T	c.(3862-3864)gGc>gTc	p.G1288V	LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1288	Cys-rich.|EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCTGGCAGCCCAGAACACA	0.567													C|||	9	0.00179712	0.0053	0.0029	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0				p.G1288V		Atlas-SNP	.											.	LTBP2	158	.	0			c.G3863T						PASS	.	C	VAL/GLY	20,4386	28.1+/-56.4	0,20,2183	85	80	82		3863	2.4	0.8	14	dbSNP_134	82	0,8600		0,0,4300	yes	missense	LTBP2	NM_000428.2	109	0,20,6483	AA,AC,CC		0.0,0.4539,0.1538	probably-damaging	1288/1822	74973926	20,12986	2203	4300	6503	SO:0001583	missense	4053	exon26			TGGCAGCCCAGAA		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3863G>T	14.37:g.74973926C>A	ENSP00000261978:p.Gly1288Val	Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	339	178	0.525074	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	6	0.0027472527472527475	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	0	0.0	C	14.80	2.643520	0.47258	0.004539	0.0	ENSG00000119681	ENST00000261978	D	0.86694	-2.16	5.22	2.36	0.29203	EGF-like calcium-binding (2);	0.521247	0.16060	N	0.231509	D	0.83147	0.5191	L	0.37630	1.12	0.80722	D	1	D	0.67145	0.996	D	0.66351	0.943	T	0.78610	-0.2137	10	0.30078	T	0.28	.	6.5858	0.22620	0.0:0.6598:0.1289:0.2113	.	1288	Q14767	LTBP2_HUMAN	V	1288	ENSP00000261978:G1288V	ENSP00000261978:G1288V	G	-	2	0	LTBP2	74043679	0.996000	0.38824	0.761000	0.31378	0.370000	0.29829	0.463000	0.21972	0.192000	0.20272	-0.224000	0.12420	GGC	C|0.998;A|0.002	0.002	strong		0.567	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74973926	C	A	74973926	3	1	22	1	0	0	0	0	1	0	0	0	9074	739	26	4	1646	4	LTBP2	14	74973926	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97745	74973926	32375614	7436	12544										
KIAA0317	9870	hgsc.bcm.edu	37	chr14	75142606	75142606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcaaagtaaatgctcacGcctgaagtggacacattgcg	10	11	2	1	rs35864766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:75142606G>A	ENST00000356357.4	-	8	1391	c.876C>T	c.(874-876)ggC>ggT	p.G292G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	292					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAATGCTCACGCCTGAAGTGG	0.443													G|||	35	0.00698882	0.0008	0.0101	5008	,	,		20927	0.0		0.0129	False		,,,				2504	0.0143				p.G292G		Atlas-SNP	.											.	KIAA0317	68	.	0			c.C876T						PASS	.	G		21,3991		0,21,1985	139	140	140		876	-1.4	1	14	dbSNP_126	140	193,8157		6,181,3988	no	coding-synonymous	KIAA0317	NM_001039479.1		6,202,5973	AA,AG,GG		2.3114,0.5234,1.7311		292/824	75142606	214,12148	2006	4175	6181	SO:0001819	synonymous_variant	9870	exon8			GCTCACGCCTGAA	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.876C>T	14.37:g.75142606G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	107	62	0.579439	NM_001039479	B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	ENST00000356357.4	37	CCDS41971.1	13	0.005952380952380952	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	8	0.010554089709762533	G	9.535	1.111930	0.20714	0.005234	0.023114	ENSG00000119682	ENST00000490805	.	.	.	5.87	-1.44	0.08856	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	0.1629	0.00105	0.3435:0.1631:0.1871:0.3063	rs35864766	.	.	.	V	40	.	.	A	-	2	0	KIAA0317	74212359	0.816000	0.29132	0.998000	0.56505	0.936000	0.57629	-0.124000	0.10595	-0.091000	0.12440	-0.383000	0.06682	GCG	G|0.985;A|0.015	0.015	strong		0.443	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		A	75142606	G	A	75142606	2	1	22	1	0	0	0	0	0	0	0	1	8167	1074	38	1		1	KIAA0317	14	75142606	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168680	75142606	32206934	7437	12545										
DLST	1743	hgsc.bcm.edu	37	chr14	75367807	75367807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccattgaagatatggatggCggtaccttcaccattagcaa	10	9	1	2	rs20578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:75367807C>T	ENST00000334220.4	+	14	1159	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	DLST_ENST00000334212.6_Silent_p.G280G	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	366					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ATATGGATGGCGGTACCTTCA	0.458													C|||	1423	0.284145	0.3404	0.2349	5008	,	,		20960	0.2202		0.2962	False		,,,				2504	0.2965				p.G366G		Atlas-SNP	.											.	DLST	42	.	0			c.C1098T						PASS	.	C		1500,2906	479.2+/-358.4	262,976,965	151	145	147		1098	-6.7	0.8	14	dbSNP_67	147	2653,5947	428.1+/-355.8	420,1813,2067	no	coding-synonymous	DLST	NM_001933.4		682,2789,3032	TT,TC,CC		30.8488,34.0445,31.9314		366/454	75367807	4153,8853	2203	4300	6503	SO:0001819	synonymous_variant	1743	exon14			GGATGGCGGTACC		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1098C>T	14.37:g.75367807C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	211	117	0.554502	NM_001933	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	CCDS9833.1																																																																																			C|0.690;T|0.310	0.310	strong		0.458	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			T	75367807	C	T	75367807	2	4	22	1	0	0	0	0	0	0	0	1	4569	755	27	1		1	DLST	14	75367807	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	225201	75367807	31981733	7438	12546										
C14orf179	112752	hgsc.bcm.edu	37	chr14	76543004	76543004	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcacaaaacgcatcacagaGatttggggctggcttcattg	10	9	3	1	rs17783366	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:76543004G>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Missense_Mutation_p.D94N	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCATCACAGAGATTTGGGGCT	0.468													G|||	846	0.16893	0.0794	0.2046	5008	,	,		20530	0.119		0.3111	False		,,,				2504	0.1697				p.D94N		Atlas-SNP	.											.	IFT43	63	.	0			c.G280A						PASS	.	G	,ASN/ASP	506,3900	231.4+/-245.2	32,442,1729	119	103	109		,280	-0.3	0	14	dbSNP_123	109	2739,5861	436.1+/-358.2	422,1895,1983	yes	intron,missense	IFT43	NM_001102564.1,NM_052873.2	,23	454,2337,3712	AA,AG,GG		31.8488,11.4843,24.95	,	,94/214	76543004	3245,9761	2203	4300	6503	SO:0001627	intron_variant	112752	exon4			CACAGAGATTTGG	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5634G>A	14.37:g.76543004G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	93	34	0.365591	NM_052873	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	CCDS41973.1	440	0.20146520146520147	56	0.11382113821138211	73	0.20165745856353592	81	0.14160839160839161	230	0.3034300791556728	G	13.47	2.247480	0.39697	0.114843	0.318488	ENSG00000119650	ENST00000238628	T	0.42513	0.97	3.98	-0.277	0.12898	.	1.421900	0.03796	N	0.263712	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31724	-0.9933	8	0.15066	T	0.55	-15.6523	1.0305	0.01537	0.2168:0.186:0.4208:0.1764	rs17783366;rs17850656;rs52814736;rs61208018;rs17783366	94	Q96FT9-2	.	N	94	ENSP00000238628:D94N	ENSP00000238628:D94N	D	+	1	0	IFT43	75612757	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.309000	0.08145	-0.160000	0.11002	0.561000	0.74099	GAT	G|0.774;A|0.226	0.226	strong		0.468	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		A	76543004	G	A	76543004	1	1	22	0	1	0	0	0	0	0	0	0	1762	942	33	2		2	C14orf179	14	76543004	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1175197	76543004	30806536	7439	12547										
KIAA1737	85457	hgsc.bcm.edu	37	chr14	77580068	77580068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgtcttccagtgagccaAccaaggctggtgctgtccca	11	13	1	1	rs759593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:77580068A>G	ENST00000361786.2	+	4	924	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		203			T -> A (in dbSNP:rs759593).		negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CAGTGAGCCAACCAAGGCTGG	0.577													A|||	257	0.0513179	0.1573	0.0144	5008	,	,		20070	0.0317		0.005	False		,,,				2504	0.002				p.T203A		Atlas-SNP	.											.	KIAA1737	26	.	0			c.A607G						PASS	.	A	ALA/THR	600,3806	260.1+/-263.5	43,514,1646	48	49	49		607	0.9	0	14	dbSNP_86	49	17,8583	12.6+/-44.7	0,17,4283	yes	missense	KIAA1737	NM_033426.2	58	43,531,5929	GG,GA,AA		0.1977,13.6178,4.744	benign	203/400	77580068	617,12389	2203	4300	6503	SO:0001583	missense	85457	exon4			GAGCCAACCAAGG																												ENST00000361786.2:c.607A>G	14.37:g.77580068A>G	ENSP00000355319:p.Thr203Ala	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	108	44	0.407407	NM_033426	B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	CCDS9855.1	112	0.05128205128205128	72	0.14634146341463414	8	0.022099447513812154	30	0.05244755244755245	2	0.002638522427440633	A	6.650	0.488393	0.12641	0.136178	0.001977	ENSG00000198894	ENST00000361786	T	0.29142	1.58	5.29	0.933	0.19471	.	0.719349	0.14224	N	0.333230	T	0.00073	0.0002	L	0.31294	0.92	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31336	-0.9947	9	0.14252	T	0.57	-18.6661	3.6726	0.08280	0.6344:0.0:0.2094:0.1562	rs759593;rs52803926;rs759593	203;105	Q9C0C6;B3KU75	K1737_HUMAN;.	A	203	ENSP00000355319:T203A	ENSP00000355319:T203A	T	+	1	0	KIAA1737	76649821	0.004000	0.15560	0.044000	0.18714	0.901000	0.52897	0.646000	0.24797	-0.073000	0.12842	0.374000	0.22700	ACC	A|0.953;G|0.047	0.047	strong		0.577	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			G	77580068	A	G	77580068	3	3	22	1	0	0	0	0	1	0	0	0	8255	43	2	2	617	2	KIAA1737	14	77580068	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1037064	77580068	29769472	7440	12548										
POMT2	29954	hgsc.bcm.edu	37	chr14	77786864	77786864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagggcccaccagccgaccGcctcgaagcgccgtgagccc	13	19	0	1	rs8177536	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:77786864G>T	ENST00000261534.4	-	1	363	c.161C>A	c.(160-162)gCg>gAg	p.A54E	GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	54			A -> E (in dbSNP:rs8177536).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CCAGCCGACCGCCTCGAAGCG	0.711													G|||	162	0.0323482	0.1188	0.0072	5008	,	,		11629	0.0		0.0	False		,,,				2504	0.0				p.A54E		Atlas-SNP	.											.	POMT2	47	.	0			c.C161A						PASS	.	G	GLU/ALA	359,3731		14,331,1700	11	10	10		161	-1.7	0	14	dbSNP_117	10	3,8235		0,3,4116	yes	missense	POMT2	NM_013382.5	107	14,334,5816	TT,TG,GG		0.0364,8.7775,2.9364	benign	54/751	77786864	362,11966	2045	4119	6164	SO:0001583	missense	29954	exon1			CCGACCGCCTCGA	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.161C>A	14.37:g.77786864G>T	ENSP00000261534:p.Ala54Glu	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	41	27	0.658537	NM_013382	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	72	0.03296703296703297	70	0.14227642276422764	2	0.0055248618784530384	0	0.0	0	0.0	G	9.945	1.218430	0.22373	0.087775	3.64E-4	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	5.34	-1.66	0.08265	.	0.721535	0.12751	N	0.442179	T	0.00412	0.0013	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.07271	-1.0781	9	0.02654	T	1	-1.3895	2.5294	0.04699	0.1453:0.2152:0.4208:0.2187	rs8177536;rs8177536	54	Q9UKY4	POMT2_HUMAN	E	54	ENSP00000261534:A54E	ENSP00000261534:A54E	A	-	2	0	POMT2	76856617	0.000000	0.05858	0.041000	0.18516	0.017000	0.09413	-0.222000	0.09190	-0.024000	0.13941	-0.136000	0.14681	GCG	G|0.920;T|0.080	0.080	strong		0.711	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		T	77786864	G	T	77786864	3	4	22	1	0	0	0	0	1	0	0	0	12246	1087	38	4	2175	4	POMT2	14	77786864	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	206796	77786864	29562676	7441	12549										
C14orf174	161394	hgsc.bcm.edu	37	chr14	77843920	77843920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaccagcagagatttaccaAgagccacagccagagaccga	9	13	0	3	rs61729313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:77843920A>G	ENST00000216471.4	+	1	445	c.159A>G	c.(157-159)caA>caG	p.Q53Q	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	53										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATTTACCAAGAGCCACAGC	0.532													A|||	324	0.0646965	0.2368	0.0159	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0				p.Q53Q		Atlas-SNP	.											.	SAMD15	60	.	0			c.A159G						PASS	.	A		744,3662	304.4+/-288.4	66,612,1525	68	69	69		159	0.9	0	14	dbSNP_129	69	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	SAMD15	NM_001010860.1		66,617,5820	GG,GA,AA		0.0581,16.8861,5.7589		53/675	77843920	749,12257	2203	4300	6503	SO:0001819	synonymous_variant	161394	exon1			TTACCAAGAGCCA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.159A>G	14.37:g.77843920A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	102	54	0.529412	NM_001010860	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																			A|0.932;G|0.068	0.068	strong		0.532	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		G	77843920	A	G	77843920	2	3	22	1	0	0	0	0	0	0	0	1	1759	69	3	3		3	C14orf174	14	77843920	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	57056	77843920	29505620	7442	12550										
ISM2	145501	hgsc.bcm.edu	37	chr14	77950877	77950877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtgcctcctcctcttccCtcagaggcctaggatctggg	11	15	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:77950877C>T	ENST00000342219.4	-	3	472	c.416G>A	c.(415-417)aGg>aAg	p.R139K	ISM2_ENST00000493585.1_Missense_Mutation_p.R139K|ISM2_ENST00000393684.3_Missense_Mutation_p.R51K|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.R58K	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	139						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CTCCTCTTCCCTCAGAGGCCT	0.597																																					p.R139K		Atlas-SNP	.											ISM2,NS,carcinoma,+1,1	ISM2	68	1	0			c.G416A						scavenged	.						68	61	64					14																	77950877		2203	4300	6503	SO:0001583	missense	145501	exon3			TCTTCCCTCAGAG	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.416G>A	14.37:g.77950877C>T	ENSP00000341490:p.Arg139Lys	Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	180	2	0.0111111	NM_199296	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	2.040	-0.420366	0.04734	.	.	ENSG00000100593	ENST00000342219;ENST00000429906;ENST00000393684;ENST00000493585;ENST00000554801	T;T;T;T	0.30182	2.03;2.03;2.37;1.54	3.23	-2.0	0.07433	.	3.132790	0.01442	N	0.015158	T	0.15825	0.0381	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.21211	-1.0252	10	0.05959	T	0.93	.	6.8075	0.23786	0.0:0.3626:0.0:0.6374	.	139;139	Q6H9L7-2;Q6H9L7	.;ISM2_HUMAN	K	139;58;51;139;58	ENSP00000341490:R139K;ENSP00000395387:R58K;ENSP00000377289:R51K;ENSP00000420452:R139K	ENSP00000341490:R139K	R	-	2	0	ISM2	77020630	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-0.192000	0.09587	-0.264000	0.09365	-0.683000	0.03753	AGG	.	.	none		0.597	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		T	77950877	C	T	77950877	3	4	22	1	0	0	0	0	1	0	0	0	7861	681	24	2	1319	2	ISM2	14	77950877	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106957	77950877	29398663	7443	12551										
TSHR	7253	hgsc.bcm.edu	37	chr14	81562998	81562998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaggaagctgtacaacaaTggctttacttcagtccaagg	10	8	1	0	rs2075179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:81562998T>C	ENST00000541158.2	+	8	883	c.561T>C	c.(559-561)aaT>aaC	p.N187N	TSHR_ENST00000342443.6_Silent_p.N187N|TSHR_ENST00000554263.1_Silent_p.N187N|TSHR_ENST00000554435.1_Silent_p.N187N|TSHR_ENST00000298171.2_Silent_p.N187N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	187					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.N187N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTACAACAATGGCTTTACTT	0.443			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						C|||	1503	0.30012	0.5953	0.1427	5008	,	,		20379	0.3036		0.1292	False		,,,				2504	0.1851				p.N187N		Atlas-SNP	.	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	TSHR_ENST00000554435,NS,carcinoma,+2,3	TSHR	462	3	1	Substitution - coding silent(1)	stomach(1)	c.T561C						PASS	.	C	,,	2341,2065	569.7+/-382.7	625,1091,487	154	126	135		561,561,561	0.9	1	14	dbSNP_96	135	1167,7433	765.0+/-407.6	78,1011,3211	no	coding-synonymous,coding-synonymous,coding-synonymous	TSHR	NM_000369.2,NM_001018036.2,NM_001142626.2	,,	703,2102,3698	CC,CT,TT		13.5698,46.8679,26.9722	,,	187/765,187/254,187/275	81562998	3508,9498	2203	4300	6503	SO:0001819	synonymous_variant	7253	exon7			CAACAATGGCTTT	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.561T>C	14.37:g.81562998T>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	138	73	0.528986	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																			T|0.711;C|0.289	0.289	strong		0.443	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		C	81562998	T	C	81562998	2	2	22	1	0	0	0	0	0	0	0	1	16619	1461	51	2		2	TSHR	14	81562998	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3612121	81562998	25786542	7444	12552										
SEL1L	6400	hgsc.bcm.edu	37	chr14	81969158	81969158	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtaatcaccaaataaaagAgcatatgacactctctccag	5	10	2	2	rs35377988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:81969158A>G	ENST00000336735.4	-	6	800	c.684T>C	c.(682-684)gcT>gcC	p.A228A	SEL1L_ENST00000555824.1_Silent_p.A228A	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	228	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAATAAAAGAGCATATGACA	0.423													A|||	195	0.0389377	0.1437	0.0072	5008	,	,		1526	0.0		0.0	False		,,,				2504	0.0				p.A228A		Atlas-SNP	.											.	SEL1L	67	.	0			c.T684C						PASS	.	A		477,3929	224.6+/-240.7	21,435,1747	185	175	178		684	-1.6	1	14	dbSNP_126	178	0,8600		0,0,4300	no	coding-synonymous	SEL1L	NM_005065.4		21,435,6047	GG,GA,AA		0.0,10.8261,3.6675		228/795	81969158	477,12529	2203	4300	6503	SO:0001819	synonymous_variant	6400	exon6			TAAAAGAGCATAT		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.684T>C	14.37:g.81969158A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	94	35	0.37234	NM_001244984	Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	ENST00000336735.4	37	CCDS9876.1																																																																																			A|0.957;G|0.043	0.043	strong		0.423	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		G	81969158	A	G	81969158	2	3	22	1	0	0	0	0	0	0	0	1	14010	291	11	3		3	SEL1L	14	81969158	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	406160	81969158	25380382	7445	12553										
KCNK10	54207	hgsc.bcm.edu	37	chr14	88693725	88693725	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacagtactcactcgaaaGaccttctccactcttgcaat	5	14	3	1	rs2277524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:88693725G>C	ENST00000340700.5	-	4	1111	c.660C>G	c.(658-660)gtC>gtG	p.V220V	KCNK10_ENST00000319231.5_Silent_p.V225V|KCNK10_ENST00000312350.5_Silent_p.V225V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	220					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCACTCGAAAGACCTTCTCCA	0.448													G|||	1713	0.342053	0.4501	0.2032	5008	,	,		18025	0.4405		0.2187	False		,,,				2504	0.32				p.V225V		Atlas-SNP	.											.	KCNK10	273	.	0			c.C675G						PASS	.	G	,,	1783,2623	526.8+/-372.0	353,1077,773	118	114	115		660,675,675	3.3	1	14	dbSNP_100	115	2049,6551	356.4+/-330.3	254,1541,2505	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	607,2618,3278	CC,CG,GG		23.8256,40.4675,29.4633	,,	220/539,225/544,225/544	88693725	3832,9174	2203	4300	6503	SO:0001819	synonymous_variant	54207	exon4			TCGAAAGACCTTC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.660C>G	14.37:g.88693725G>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																			G|0.690;C|0.310	0.310	strong		0.448	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88693725	G	C	88693725	2	2	22	1	0	0	0	0	0	0	0	1	8059	929	33	4		4	KCNK10	14	88693725	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6724567	88693725	18655815	7446	12554										
SPATA7	55812	hgsc.bcm.edu	37	chr14	88852166	88852166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaagaggactaagcatgGatggcagccggagaggtaaa	15	7	0	2	rs4904448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:88852166G>A	ENST00000393545.4	+	1	293	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SPATA7_ENST00000356583.5_Missense_Mutation_p.D2N|SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000045347.7_Missense_Mutation_p.D2N|SPATA7_ENST00000556553.1_Missense_Mutation_p.D2N	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	2			D -> N (in dbSNP:rs4904448).		response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						ACTAAGCATGGATGGCAGCCG	0.701													G|||	951	0.189896	0.034	0.2608	5008	,	,		15263	0.0446		0.4443	False		,,,				2504	0.2382				p.D2N		Atlas-SNP	.											SPATA7,NS,carcinoma,0,1	SPATA7	58	1	0			c.G4A						scavenged	.	G	ASN/ASP,ASN/ASP	466,3930		30,406,1762	23	23	23		4,4	2.2	1	14	dbSNP_111	23	3358,5222		661,2036,1593	yes	missense,missense	SPATA7	NM_001040428.3,NM_018418.4	23,23	691,2442,3355	AA,AG,GG		39.1375,10.6005,29.4698	possibly-damaging,possibly-damaging	2/568,2/600	88852166	3824,9152	2198	4290	6488	SO:0001583	missense	55812	exon1			AGCATGGATGGCA	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.4G>A	14.37:g.88852166G>A	ENSP00000377176:p.Asp2Asn	Somatic	57	1	0.0175439		WXS	Illumina HiSeq	Phase_I	72	39	0.541667	NM_018418	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	CCDS9883.1	467	0.21382783882783882	17	0.034552845528455285	98	0.27071823204419887	29	0.050699300699300696	323	0.4261213720316623	G	13.05	2.122744	0.37436	0.106005	0.391375	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.52754	1.1;1.31;1.1;1.81;0.65;1.21	4.25	2.23	0.28157	.	1.092970	0.07011	N	0.825115	T	0.00012	0.0000	L	0.51422	1.61	0.36438	P	0.13467099999999999	B;P	0.46142	0.015;0.873	B;B	0.42361	0.018;0.385	T	0.38373	-0.9664	9	0.52906	T	0.07	0.0185	6.4031	0.21650	0.2546:0.0:0.7454:0.0	rs4904448;rs17808075;rs56439463;rs59975682;rs4904448	2;2	Q9P0W8-2;Q9P0W8	.;SPAT7_HUMAN	N	2	ENSP00000451128:D2N;ENSP00000377176:D2N;ENSP00000348991:D2N;ENSP00000452435:D2N;ENSP00000450606:D2N;ENSP00000045347:D2N	ENSP00000045347:D2N	D	+	1	0	SPATA7	87921919	0.988000	0.35896	0.989000	0.46669	0.974000	0.67602	0.243000	0.18106	0.436000	0.26393	0.655000	0.94253	GAT	G|0.775;A|0.225	0.225	strong		0.701	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			A	88852166	G	A	88852166	3	1	22	1	0	0	0	0	1	0	0	0	15013	1174	41	2	6	2	SPATA7	14	88852166	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	158441	88852166	18497374	7447	12555										
TTC8	123016	hgsc.bcm.edu	37	chr14	89338786	89338786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggagatgcggaagggccAcgttgaacaggtcagtgaac	16	8	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:89338786A>G	ENST00000345383.5	+	12	1391	c.1307A>G	c.(1306-1308)cAc>cGc	p.H436R	TTC8_ENST00000338104.6_Missense_Mutation_p.H462R|TTC8_ENST00000380656.2_Missense_Mutation_p.H446R|TTC8_ENST00000346301.4_Missense_Mutation_p.H406R|TTC8_ENST00000354441.6_Missense_Mutation_p.H181R|TTC8_ENST00000536576.1_Missense_Mutation_p.H207R|TTC8_ENST00000358622.5_Missense_Mutation_p.H248R	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	472					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGAAGGGCCACGTTGAACAG	0.517																																					p.H446R		Atlas-SNP	.											.	TTC8	42	.	0			c.A1337G						PASS	.						131	110	117					14																	89338786		2203	4300	6503	SO:0001583	missense	123016	exon13			AGGGCCACGTTGA	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1307A>G	14.37:g.89338786A>G	ENSP00000339486:p.His436Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	63	24	0.380952	NM_144596	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.85|11.85	1.761724|1.761724	0.31228|0.31228	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.58797|.	1.0;0.31;1.0;1.0;0.31;1.0;1.0|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.094735|.	0.64402|.	D|.	0.000001|.	T|T	0.30103|0.30103	0.0754|0.0754	N|N	0.02802|0.02802	-0.49|-0.49	0.49798|0.49798	D|D	0.999823|0.999823	B;B;B;B;B|.	0.12013|.	0.005;0.0;0.005;0.0;0.0|.	B;B;B;B;B|.	0.14578|.	0.004;0.004;0.011;0.002;0.002|.	T|T	0.27872|0.27872	-1.0061|-1.0061	10|5	0.27082|.	T|.	0.32|.	-24.1045|-24.1045	11.1717|11.1717	0.48575|0.48575	0.9283:0.0:0.0717:0.0|0.9283:0.0:0.0717:0.0	.|.	181;207;472;416;446|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	R|A	436;207;406;462;181;446;248|396	ENSP00000339486:H436R;ENSP00000445067:H207R;ENSP00000298324:H406R;ENSP00000337653:H462R;ENSP00000346427:H181R;ENSP00000370031:H446R;ENSP00000351439:H248R|.	ENSP00000337653:H462R|.	H|T	+|+	2|1	0|0	TTC8|TTC8	88408539|88408539	0.992000|0.992000	0.36948|0.36948	0.930000|0.930000	0.37139|0.37139	0.977000|0.977000	0.68977|0.68977	2.851000|2.851000	0.48302|0.48302	2.254000|2.254000	0.74563|0.74563	0.459000|0.459000	0.35465|0.35465	CAC|ACG	.	.	none		0.517	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		G	89338786	A	G	89338786	3	3	22	1	0	0	0	0	1	0	0	0	16711	159	6	2	1387	2	TTC8	14	89338786	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	486620	89338786	18010754	7448	12556										
TTC8	123016	hgsc.bcm.edu	37	chr14	89343670	89343670	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagaagctatgttgctgcGcagaagtctgaagcagcatt	12	8	1	3	rs142073418	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:89343670G>C	ENST00000345383.5	+	14	1518	c.1434G>C	c.(1432-1434)gcG>gcC	p.A478A	TTC8_ENST00000346301.4_Silent_p.A448A|TTC8_ENST00000358622.5_Silent_p.A290A|TTC8_ENST00000338104.6_Silent_p.A504A|TTC8_ENST00000380656.2_Silent_p.A488A|TTC8_ENST00000354441.6_Silent_p.A223A|TTC8_ENST00000536576.1_Silent_p.A249A	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	514					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATGTTGCTGCGCAGAAGTCTG	0.378													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		15836	0.0		0.002	False		,,,				2504	0.0031				p.A488A		Atlas-SNP	.											TTC8,NS,carcinoma,+2,1	TTC8	42	1	0			c.G1464C						PASS	.	G	,,	6,4400	11.4+/-27.6	0,6,2197	81	71	74		1464,1434,1344	-0.1	1	14	dbSNP_134	74	45,8555	27.4+/-76.7	0,45,4255	no	coding-synonymous,coding-synonymous,coding-synonymous	TTC8	NM_144596.2,NM_198309.2,NM_198310.2	,,	0,51,6452	CC,CG,GG		0.5233,0.1362,0.3921	,,	488/516,478/506,448/476	89343670	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	123016	exon15			TGCTGCGCAGAAG	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1434G>C	14.37:g.89343670G>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	120	54	0.45	NM_144596	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	ENST00000345383.5	37	CCDS9885.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	8.459	0.854948	0.17106	0.001362	0.005233	ENSG00000165533	ENST00000554686	.	.	.	5.4	-0.12	0.13539	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19031	-1.0318	4	.	.	.	-15.2774	2.8711	0.05617	0.4346:0.0675:0.1193:0.3786	.	.	.	.	P	410	.	.	R	+	2	0	TTC8	88413423	0.828000	0.29307	0.998000	0.56505	0.891000	0.51852	-0.119000	0.10676	0.094000	0.17404	-0.384000	0.06662	CGC	G|0.997;C|0.003	0.003	strong		0.378	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		C	89343670	G	C	89343670	2	2	22	1	0	0	0	0	0	0	0	1	16711	1074	38	4		4	TTC8	14	89343670	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4884	89343670	18005870	7449	12557										
C14orf143	90141	hgsc.bcm.edu	37	chr14	90398907	90398907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaagatgtgtcttacttcGttccgatatcgttgagcttc	10	8	1	3	rs8778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90398907G>A	ENST00000316738.7	-	4	310	c.282C>T	c.(280-282)aaC>aaT	p.N94N	EFCAB11_ENST00000267544.9_Silent_p.N31N|EFCAB11_ENST00000556609.1_Silent_p.N46N|EFCAB11_ENST00000556005.1_Silent_p.N70N|EFCAB11_ENST00000555872.1_Silent_p.N70N|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000538485.2_Silent_p.N94N|EFCAB11_ENST00000550103.2_5'UTR	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	94	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						GTCTTACTTCGTTCCGATATC	0.333													A|||	1277	0.254992	0.2844	0.2594	5008	,	,		16591	0.255		0.1044	False		,,,				2504	0.3671				p.N94N		Atlas-SNP	.											.	EFCAB11	12	.	0			c.C282T						PASS	.	A		1198,3208	709.3+/-407.7	145,908,1150	132	127	128		282	2.9	1	14	dbSNP_52	128	1001,7599	773.5+/-407.7	58,885,3357	no	coding-synonymous	EFCAB11	NM_145231.2		203,1793,4507	AA,AG,GG		11.6395,27.1902,16.9076		94/164	90398907	2199,10807	2203	4300	6503	SO:0001819	synonymous_variant	90141	exon4			TACTTCGTTCCGA	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.282C>T	14.37:g.90398907G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	62	26	0.419355	NM_145231	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Silent	SNP	ENST00000316738.7	37	CCDS9887.1																																																																																			G|0.806;A|0.194	0.194	strong		0.333	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231		A	90398907	G	A	90398907	2	1	22	1	0	0	0	0	0	0	0	1	1748	1136	40	1		1	C14orf143	14	90398907	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1055237	90398907	16950633	7450	12558										
TDP1	55775	hgsc.bcm.edu	37	chr14	90429749	90429749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagtgatgatgagctgcaAccagaaatgccgcagaagca	12	9	0	5	rs3825663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90429749A>G	ENST00000335725.4	+	3	541	c.291A>G	c.(289-291)caA>caG	p.Q97Q	TDP1_ENST00000393454.2_Silent_p.Q97Q|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Silent_p.Q97Q|TDP1_ENST00000555880.1_Silent_p.Q97Q	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	97					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)		ATGAGCTGCAACCAGAAATGC	0.488								Repair of DNA-protein crosslinks					G|||	1355	0.270567	0.8207	0.1254	5008	,	,		20488	0.0357		0.0398	False		,,,				2504	0.1094				p.Q97Q		Atlas-SNP	.											.	TDP1	47	.	0			c.A291G						PASS	.	G	,	3033,1373	452.8+/-350.1	1075,883,245	72	85	81		291,291	-10.5	0	14	dbSNP_107	81	395,8205	801.7+/-407.4	9,377,3914	yes	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	1084,1260,4159	GG,GA,AA		4.593,31.1621,26.3571	,	97/609,97/609	90429749	3428,9578	2203	4300	6503	SO:0001819	synonymous_variant	55775	exon3			GCTGCAACCAGAA	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.291A>G	14.37:g.90429749A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	73	73	1	NM_018319	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	CCDS9888.1																																																																																			A|0.735;G|0.265	0.265	strong		0.488	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		G	90429749	A	G	90429749	2	3	22	1	0	0	0	0	0	0	0	1	15725	40	2	2		2	TDP1	14	90429749	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30842	90429749	16919791	7451	12559										
TDP1	55775	hgsc.bcm.edu	37	chr14	90429858	90429858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaaatcatggcgctcccGcctgccacaggctcaaagag	10	14	2	2	rs28365054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90429858G>A	ENST00000335725.4	+	3	650	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	TDP1_ENST00000393454.2_Missense_Mutation_p.A134T|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.A134T|TDP1_ENST00000555880.1_Missense_Mutation_p.A134T	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	134			A -> T (in dbSNP:rs28365054). {ECO:0000269|Ref.3}.		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)		TGGCGCTCCCGCCTGCCACAG	0.527								Repair of DNA-protein crosslinks					G|||	530	0.105831	0.3336	0.0447	5008	,	,		20317	0.0089		0.0199	False		,,,				2504	0.0297				p.A134T		Atlas-SNP	.											.	TDP1	47	.	0			c.G400A						PASS	.	G	THR/ALA,THR/ALA	1239,3167	411.7+/-335.8	181,877,1145	48	45	46		400,400	-2.6	0	14	dbSNP_126	46	179,8421	80.1+/-142.7	3,173,4124	yes	missense,missense	TDP1	NM_001008744.1,NM_018319.3	58,58	184,1050,5269	AA,AG,GG		2.0814,28.1207,10.9027	benign,benign	134/609,134/609	90429858	1418,11588	2203	4300	6503	SO:0001583	missense	55775	exon3			GCTCCCGCCTGCC	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.400G>A	14.37:g.90429858G>A	ENSP00000337353:p.Ala134Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	99	54	0.545455	NM_018319	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	195	0.08928571428571429	155	0.3150406504065041	19	0.052486187845303865	8	0.013986013986013986	13	0.017150395778364115	G	6.023	0.372548	0.11409	0.281207	0.020814	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;2.25;1.75;2.22;1.75;1.87;1.87;1.87;1.91;1.52	5.36	-2.62	0.06152	.	1.082140	0.06853	N	0.797624	T	0.00012	0.0000	N	0.13043	0.29	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.06405	0.001;0.001;0.002;0.0	T	0.44390	-0.9331	9	0.13108	T	0.6	-10.0622	5.7326	0.18049	0.4341:0.0:0.4386:0.1273	rs28365054;rs35332925;rs28365054	134;134;134;134	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	T	134;134;134;35;134;134;134;134;134;134	ENSP00000377098:A134T;ENSP00000450872:A134T;ENSP00000377099:A134T;ENSP00000450708:A35T;ENSP00000337353:A134T;ENSP00000452279:A134T;ENSP00000451358:A134T;ENSP00000452333:A134T;ENSP00000452183:A134T;ENSP00000450628:A134T	ENSP00000337353:A134T	A	+	1	0	TDP1	89499611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.012000	0.13287	-0.617000	0.05664	-1.300000	0.01332	GCC	G|0.892;A|0.108	0.108	strong		0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		A	90429858	G	A	90429858	3	1	22	1	0	0	0	0	1	0	0	0	15725	1087	38	1	402	1	TDP1	14	90429858	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109	90429858	16919682	7452	12560										
TDP1	55775	hgsc.bcm.edu	37	chr14	90451500	90451500	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcttattggttcaaccccAggacgctttcaaggaagtca	8	10	4	0	rs17126522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90451500A>G	ENST00000335725.4	+	10	1327	c.1077A>G	c.(1075-1077)ccA>ccG	p.P359P	TDP1_ENST00000393454.2_Silent_p.P359P|TDP1_ENST00000555880.1_Silent_p.P359P|TDP1_ENST00000393452.3_Silent_p.P359P|TDP1_ENST00000357382.3_Silent_p.P120P	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	359					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)		GTTCAACCCCAGGACGCTTTC	0.284								Repair of DNA-protein crosslinks					A|||	301	0.0601038	0.171	0.0288	5008	,	,		15009	0.0079		0.0179	False		,,,				2504	0.0297				p.P359P		Atlas-SNP	.											.	TDP1	47	.	0			c.A1077G						PASS	.	A	,	597,3809	246.5+/-255.1	44,509,1650	60	58	58		1077,1077	-11.2	0.7	14	dbSNP_123	58	171,8421	79.2+/-141.9	2,167,4127	no	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	46,676,5777	GG,GA,AA		1.9902,13.5497,5.9086	,	359/609,359/609	90451500	768,12230	2203	4296	6499	SO:0001819	synonymous_variant	55775	exon10			AACCCCAGGACGC	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.1077A>G	14.37:g.90451500A>G		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	162	80	0.493827	NM_018319	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	CCDS9888.1																																																																																			A|0.938;G|0.062	0.062	strong		0.284	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		G	90451500	A	G	90451500	2	3	22	1	0	0	0	0	0	0	0	1	15725	175	7	3		3	TDP1	14	90451500	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21642	90451500	16898040	7453	12561										
KCNK13	56659	hgsc.bcm.edu	37	chr14	90528797	90528797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactacgaggaggccactcGggccggcatccgcgtggaca	14	15	0	0	rs7157583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90528797G>A	ENST00000282146.4	+	1	689	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	83					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAGGCCACTCGGGCCGGCATC	0.682													G|||	508	0.101438	0.3222	0.0389	5008	,	,		12807	0.0		0.007	False		,,,				2504	0.0491				p.R83Q		Atlas-SNP	.											.	KCNK13	76	.	0			c.G248A						PASS	.	G	GLN/ARG	961,3219		99,763,1228	6	7	7		248	-3.8	0.4	14	dbSNP_116	7	51,8133		0,51,4041	no	missense	KCNK13	NM_022054.2	43	99,814,5269	AA,AG,GG		0.6232,22.9904,8.1851	benign	83/409	90528797	1012,11352	2090	4092	6182	SO:0001583	missense	56659	exon1			CCACTCGGGCCGG	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.248G>A	14.37:g.90528797G>A	ENSP00000282146:p.Arg83Gln	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_022054	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	CCDS9889.1	184	0.08424908424908426	165	0.3353658536585366	15	0.04143646408839779	0	0.0	4	0.005277044854881266	G	12.29	1.894020	0.33442	0.229904	0.006232	ENSG00000152315	ENST00000282146	T	0.11821	2.74	4.41	-3.75	0.04372	.	.	.	.	.	T	0.00012	0.0000	N	0.11064	0.09	0.80722	P	0.0	B	0.21381	0.055	B	0.29862	0.108	T	0.49652	-0.8917	8	0.14252	T	0.57	.	1.5031	0.02480	0.2056:0.3789:0.1937:0.2219	rs7157583	83	Q9HB14	KCNKD_HUMAN	Q	83	ENSP00000282146:R83Q	ENSP00000282146:R83Q	R	+	2	0	KCNK13	89598550	0.069000	0.21087	0.375000	0.26029	0.940000	0.58332	0.345000	0.19979	-0.339000	0.08401	0.313000	0.20887	CGG	G|0.915;A|0.085	0.085	strong		0.682	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		A	90528797	G	A	90528797	3	1	22	1	0	0	0	0	1	0	0	0	8061	1116	39	1	250	1	KCNK13	14	90528797	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77297	90528797	16820743	7454	12562										
C14orf102	55051	hgsc.bcm.edu	37	chr14	90767607	90767607	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttggtaggcagatctttCacgctgtcgggtttgaagaa	12	8	2	3	rs3825661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:90767607C>T	ENST00000354366.3	-	7	1753	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	NRDE2_ENST00000357904.3_Silent_p.V276V	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	507																	GCAGATCTTTCACGCTGTCGG	0.552													C|||	3387	0.676318	0.5673	0.6484	5008	,	,		15669	0.7976		0.671	False		,,,				2504	0.7239				p.V507V		Atlas-SNP	.											.	.	.	.	0			c.G1521A						PASS	.	C	,	2623,1783	642.4+/-397.6	804,1015,384	122	98	106		1521,828	4.9	0.9	14	dbSNP_107	106	6003,2597	688.2+/-404.3	2110,1783,407	no	coding-synonymous,coding-synonymous	C14orf102	NM_017970.3,NM_199043.1	,	2914,2798,791	TT,TC,CC		30.1977,40.4675,33.6768	,	507/1165,276/934	90767607	8626,4380	2203	4300	6503	SO:0001819	synonymous_variant	55051	exon7			ATCTTTCACGCTG	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1521G>A	14.37:g.90767607C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	123	58	0.471545	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	CCDS9890.1																																																																																			C|0.328;T|0.672	0.672	strong		0.552	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		T	90767607	C	T	90767607	2	4	22	1	0	0	0	0	0	0	0	1	1735	813	29	2		2	C14orf102	14	90767607	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	238810	90767607	16581933	7455	12563										
C14orf159	80017	hgsc.bcm.edu	37	chr14	91666248	91666248	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcctggaatctcatcaacTggtaagtatggagtactggg	11	7	2	0	rs28715808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91666248T>C	ENST00000523771.1	+	11	2031	c.1428T>C	c.(1426-1428)acT>acC	p.T476T	C14orf159_ENST00000518868.1_Splice_Site_p.T481T|C14orf159_ENST00000256324.10_Splice_Site_p.T481T|C14orf159_ENST00000412671.2_Splice_Site_p.T481T|C14orf159_ENST00000522322.1_Splice_Site_p.T476T|C14orf159_ENST00000523816.1_Splice_Site_p.T476T|C14orf159_ENST00000520328.1_Splice_Site_p.T464T|C14orf159_ENST00000428926.2_Splice_Site_p.T476T|C14orf159_ENST00000521077.2_Splice_Site_p.T481T|C14orf159_ENST00000525393.2_Splice_Site_p.T352T			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	476						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCTCATCAACTGGTAAGTATG	0.458													T|||	181	0.0361422	0.1067	0.0346	5008	,	,		22154	0.0		0.0109	False		,,,				2504	0.0051				p.T481T		Atlas-SNP	.											.	C14orf159	57	.	0			c.T1443C						PASS	.	T	,,,,	337,4069	176.9+/-206.0	16,305,1882	151	142	145		1428,1428,1443,1392,1428	-2.7	0.1	14	dbSNP_125	145	117,8483	61.0+/-122.8	0,117,4183	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	C14orf159	NM_001102366.1,NM_001102367.1,NM_001102368.1,NM_001102369.1,NM_024952.6	,,,,	16,422,6065	CC,CT,TT		1.3605,7.6487,3.4907	,,,,	476/617,476/617,481/622,464/565,476/617	91666248	454,12552	2203	4300	6503	SO:0001630	splice_region_variant	80017	exon11			ATCAACTGGTAAG	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1429+1T>C	14.37:g.91666248T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	155	86	0.554839	NM_001102368	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	CCDS32141.1	60	0.027472527472527472	41	0.08333333333333333	12	0.03314917127071823	0	0.0	7	0.009234828496042216	T	0.894	-0.724442	0.03158	0.076487	0.013605	ENSG00000133943	ENST00000522816	.	.	.	5.1	-2.71	0.05986	.	.	.	.	.	T	0.00967	0.0032	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22173	-1.0224	3	.	.	.	.	2.29	0.04136	0.3649:0.0777:0.3565:0.2009	rs28715808	.	.	.	P	77	.	.	L	+	2	0	C14orf159	90736001	0.990000	0.36364	0.051000	0.19133	0.053000	0.15095	0.237000	0.17985	-0.360000	0.08138	-0.461000	0.05368	CTG	T|0.967;C|0.033	0.033	strong		0.458	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	Silent	C	91666248	T	C	91666248	5	2	22	1	0	0	0	0	0	0	1	0	1755	1594	55	3	1477	3	C14orf159	14	91666248	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	898641	91666248	15683292	7456	12564										
GPR68	8111	hgsc.bcm.edu	37	chr14	91700319	91700319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccaacctgcccgtggggAacccgcccgaccctggcgag	14	17	0	0	rs151219229	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91700319A>G	ENST00000531499.2	-	2	1415	c.1076T>C	c.(1075-1077)tTc>tCc	p.F359S	GPR68_ENST00000238699.3_Missense_Mutation_p.F369S|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.F359S			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	359					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCCCGTGGGGAACCCGCCCGA	0.711													G|||	53	0.0105831	0.0393	0.0014	5008	,	,		13610	0.0		0.0	False		,,,				2504	0.0				p.F359S		Atlas-SNP	.											.	GPR68	32	.	0			c.T1076C						PASS	.	G	SER/PHE,SER/PHE	50,3832		0,50,1891	10	13	12		1076,1076	1.6	0	14	dbSNP_134	12	0,7436		0,0,3718	no	missense,missense	GPR68	NM_003485.3,NM_001177676.1	155,155	0,50,5609	GG,GA,AA		0.0,1.288,0.4418	benign,benign	359/366,359/366	91700319	50,11268	1941	3718	5659	SO:0001583	missense	8111	exon2			GTGGGGAACCCGC	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.1076T>C	14.37:g.91700319A>G	ENSP00000434045:p.Phe359Ser	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	42	11	0.261905	NM_001177676	Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	CCDS9894.2	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	4.035	0.004003	0.07866	0.01288	0.0	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815	T;T;T	0.61040	0.14;0.15;0.14	4.46	1.59	0.23543	.	0.406139	0.19168	N	0.121014	T	0.11324	0.0276	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16719	-1.0393	10	0.07175	T	0.84	.	4.0511	0.09796	0.2953:0.1741:0.5306:0.0	.	359;359	Q6NWR5;Q15743	.;OGR1_HUMAN	S	359;369;359	ENSP00000434045:F359S;ENSP00000238699:F369S;ENSP00000440797:F359S	ENSP00000238699:F369S	F	-	2	0	GPR68	90770072	.	.	0.005000	0.12908	0.002000	0.02628	.	.	-0.069000	0.12931	-0.227000	0.12334	TTC	A|0.995;G|0.005	0.005	strong		0.711	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			G	91700319	A	G	91700319	3	3	22	1	0	0	0	0	1	0	0	0	6707	246	9	2	25	2	GPR68	14	91700319	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34071	91700319	15649221	7457	12565										
GPR68	8111	hgsc.bcm.edu	37	chr14	91700846	91700846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcggtagtagttgatggcGcgctgccatgcctggatggg	17	8	0	1	rs2540862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91700846G>A	ENST00000531499.2	-	2	888	c.549C>T	c.(547-549)cgC>cgT	p.R183R	GPR68_ENST00000238699.3_Silent_p.R193R|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Silent_p.R183R			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	183					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGTTGATGGCGCGCTGCCATG	0.632													G|||	767	0.153155	0.3366	0.0519	5008	,	,		19727	0.1677		0.004	False		,,,				2504	0.1155				p.R183R		Atlas-SNP	.											GPR68,colon,carcinoma,-2,1	GPR68	32	1	0			c.C549T						PASS	.	G	,	1280,3126	433.1+/-343.5	188,904,1111	69	51	57		549,549	-4.2	0	14	dbSNP_100	57	80,8520	46.3+/-105.2	0,80,4220	no	coding-synonymous,coding-synonymous	GPR68	NM_001177676.1,NM_003485.3	,	188,984,5331	AA,AG,GG		0.9302,29.0513,10.4567	,	183/366,183/366	91700846	1360,11646	2203	4300	6503	SO:0001819	synonymous_variant	8111	exon2			GATGGCGCGCTGC	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.549C>T	14.37:g.91700846G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	99	39	0.393939	NM_001177676	Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	CCDS9894.2																																																																																			G|0.874;A|0.126	0.126	strong		0.632	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			A	91700846	G	A	91700846	2	1	22	1	0	0	0	0	0	0	0	1	6707	1074	38	1		1	GPR68	14	91700846	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	527	91700846	15648694	7458	12566										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91739873	91739873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgacggtgggggccacaAagttggtgggcatcttggcc	16	8	1	1	rs7145583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91739873A>G	ENST00000389857.6	-	30	5269	c.5183T>C	c.(5182-5184)tTt>tCt	p.F1728S	CCDC88C_ENST00000331194.7_Missense_Mutation_p.F252S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1728					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGGGGCCACAAAGTTGGTGGG	0.622													A|||	28	0.00559105	0.0189	0.0043	5008	,	,		16431	0.0		0.0	False		,,,				2504	0.0				p.F1728S		Atlas-SNP	.											.	CCDC88C	192	.	0			c.T5183C						PASS	.	A	SER/PHE	63,3873		1,61,1906	29	33	32		5183	3.5	0.8	14	dbSNP_116	32	1,8255		0,1,4127	yes	missense	CCDC88C	NM_001080414.3	155	1,62,6033	GG,GA,AA		0.0121,1.6006,0.5249	benign	1728/2029	91739873	64,12128	1968	4128	6096	SO:0001583	missense	440193	exon30			GCCACAAAGTTGG		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5183T>C	14.37:g.91739873A>G	ENSP00000374507:p.Phe1728Ser	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	150	72	0.48	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	A	7.279	0.608712	0.14066	0.016006	1.21E-4	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.47528	2.39;0.84	4.7	3.52	0.40303	.	0.410931	0.18701	U	0.133580	T	0.25644	0.0624	M	0.64997	1.995	0.27192	N	0.960401	B;B;B	0.32160	0.242;0.231;0.358	B;B;B	0.33042	0.154;0.157;0.157	T	0.17410	-1.0370	10	0.30078	T	0.28	0.4499	6.9029	0.24293	0.6516:0.1293:0.0:0.2191	rs7145583	1728;252;178	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	S	1728;252;252	ENSP00000374507:F1728S;ENSP00000330332:F252S	ENSP00000330332:F252S	F	-	2	0	CCDC88C	90809626	0.999000	0.42202	0.816000	0.32577	0.093000	0.18481	2.620000	0.46410	0.630000	0.30394	0.377000	0.23210	TTT	A|0.997;G|0.003	0.003	strong		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		G	91739873	A	G	91739873	3	3	22	1	0	0	0	0	1	0	0	0	2865	14	1	2	907	2	CCDC88C	14	91739873	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39027	91739873	15609667	7459	12567										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91744348	91744348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggggaggccgagcagggcCgcactccgacgtagggaggg	21	10	0	0	rs114849211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91744348C>T	ENST00000389857.6	-	29	5062	c.4976G>A	c.(4975-4977)cGg>cAg	p.R1659Q	CCDC88C_ENST00000331194.7_Missense_Mutation_p.R183Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1659					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.R1659Q(2)|p.R183Q(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGAGCAGGGCCGCACTCCGAC	0.677													C|||	52	0.0103834	0.0386	0.0014	5008	,	,		17086	0.0		0.0	False		,,,				2504	0.0				p.R1659Q		Atlas-SNP	.											KIAA1509,caecum,carcinoma,-1,6	CCDC88C	192	6	3	Substitution - Missense(3)	urinary_tract(3)	c.G4976A						PASS	.	C	GLN/ARG	103,3867		0,103,1882	12	15	14		4976	4.5	0.2	14	dbSNP_132	14	1,8315		0,1,4157	yes	missense	CCDC88C	NM_001080414.3	43	0,104,6039	TT,TC,CC		0.012,2.5945,0.8465	probably-damaging	1659/2029	91744348	104,12182	1985	4158	6143	SO:0001583	missense	440193	exon29			CAGGGCCGCACTC		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4976G>A	14.37:g.91744348C>T	ENSP00000374507:p.Arg1659Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	103	57	0.553398	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	16.75	3.209248	0.58343	0.025945	1.2E-4	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	2.19;0.49	5.55	4.47	0.54385	.	0.000000	0.47455	U	0.000221	T	0.40423	0.1116	L	0.54323	1.7	0.09310	N	0.999999	D;P;P	0.89917	1.0;0.812;0.812	D;B;B	0.80764	0.994;0.141;0.141	T	0.44757	-0.9307	10	0.72032	D	0.01	-41.3463	9.9503	0.41634	0.0:0.8456:0.0:0.1544	.	1659;183;109	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	Q	1659;183;183	ENSP00000374507:R1659Q;ENSP00000330332:R183Q	ENSP00000330332:R183Q	R	-	2	0	CCDC88C	90814101	0.903000	0.30736	0.169000	0.22859	0.580000	0.36256	2.140000	0.42159	2.608000	0.88229	0.462000	0.41574	CGG	C|0.994;T|0.006	0.006	strong		0.677	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91744348	C	T	91744348	3	4	22	1	0	0	0	0	1	0	0	0	2865	652	23	1	1118	1	CCDC88C	14	91744348	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4475	91744348	15605192	7460	12568										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91770308	91770308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcgctctgggaactcagCgtggagttctccacctgccg	13	14	3	0	rs112741231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91770308C>T	ENST00000389857.6	-	20	3458	c.3372G>A	c.(3370-3372)acG>acA	p.T1124T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1124					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGGAACTCAGCGTGGAGTTCT	0.662													c|||	111	0.0221645	0.0772	0.013	5008	,	,		16262	0.0		0.0	False		,,,				2504	0.0				p.T1124T		Atlas-SNP	.											CCDC88C_ENST00000389857,NS,carcinoma,0,2	CCDC88C	192	2	0			c.G3372A						PASS	.	C		250,3982		8,234,1874	43	49	47		3372	-11	0.2	14	dbSNP_132	47	9,8477		0,9,4234	no	coding-synonymous	CCDC88C	NM_001080414.3		8,243,6108	TT,TC,CC		0.1061,5.9074,2.0365		1124/2029	91770308	259,12459	2116	4243	6359	SO:0001819	synonymous_variant	440193	exon20			ACTCAGCGTGGAG		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3372G>A	14.37:g.91770308C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	58	31	0.534483	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																			C|0.983;T|0.017	0.017	strong		0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91770308	C	T	91770308	2	4	22	1	0	0	0	0	0	0	0	1	2865	755	27	1		1	CCDC88C	14	91770308	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25960	91770308	15579232	7461	12569										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91805804	91805804	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgagtgaggtccacgatCagctgcagccgggcagagag	15	11	1	3	rs61220159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:91805804C>T	ENST00000389857.6	-	8	713	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	209					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGTCCACGATCAGCTGCAGCC	0.602													C|||	166	0.033147	0.1188	0.013	5008	,	,		17173	0.0		0.0	False		,,,				2504	0.0				p.L209L		Atlas-SNP	.											.	CCDC88C	192	.	0			c.G627A						PASS	.	C		438,3852		17,404,1724	41	50	47		627	-0.9	1	14	dbSNP_129	47	4,8512		0,4,4254	yes	coding-synonymous	CCDC88C	NM_001080414.3		17,408,5978	TT,TC,CC		0.047,10.2098,3.4515		209/2029	91805804	442,12364	2145	4258	6403	SO:0001819	synonymous_variant	440193	exon8			CACGATCAGCTGC		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.627G>A	14.37:g.91805804C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	230	124	0.53913	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																			C|0.968;T|0.032	0.032	strong		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91805804	C	T	91805804	2	4	22	1	0	0	0	0	0	0	0	1	2865	813	29	2		2	CCDC88C	14	91805804	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35496	91805804	15543736	7462	12570										
TC2N	123036	hgsc.bcm.edu	37	chr14	92264736	92264736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcatctcctgatagagtAattgtatctgaattataaaa	5	6	3	3	rs147695092		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:92264736A>G	ENST00000435962.2	-	7	968	c.645T>C	c.(643-645)atT>atC	p.I215I	TC2N_ENST00000340892.5_Silent_p.I215I|TC2N_ENST00000556018.1_Silent_p.I215I|TC2N_ENST00000360594.5_Silent_p.I215I	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	215					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTGATAGAGTAATTGTATCTG	0.328													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15932	0.0		0.0	False		,,,				2504	0.0				p.I215I		Atlas-SNP	.											.	TC2N	49	.	0			c.T645C						PASS	.	A	,,	4,4392	8.1+/-20.4	0,4,2194	43	46	45		645,645,645	3.2	1	14	dbSNP_134	45	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous,coding-synonymous	TC2N	NM_001128595.1,NM_001128596.1,NM_152332.4	,,	0,4,6479	GG,GA,AA		0.0,0.091,0.0308	,,	215/491,215/491,215/491	92264736	4,12962	2198	4285	6483	SO:0001819	synonymous_variant	123036	exon7			TAGAGTAATTGTA	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.645T>C	14.37:g.92264736A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	133	74	0.556391	NM_001128596		Silent	SNP	ENST00000435962.2	37	CCDS9897.1																																																																																			A|1.000;G|0.000	0.000	weak		0.328	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		G	92264736	A	G	92264736	2	3	22	1	0	0	0	0	0	0	0	1	15662	358	13	2		2	TC2N	14	92264736	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	458932	92264736	15084804	7463	12571										
TRIP11	9321	hgsc.bcm.edu	37	chr14	92441066	92441066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcatccacctggtaacacCgccctgatcgtcatgaaaca	7	14	2	2	rs1051340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:92441066C>T	ENST00000267622.4	-	19	5852	c.5479G>A	c.(5479-5481)Ggt>Agt	p.G1827S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1827			G -> S (in dbSNP:rs1051340). {ECO:0000269|PubMed:10189370, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7776974, ECO:0000269|PubMed:9373237}.		protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGGTAACACCGCCCTGATCG	0.368			T	PDGFRB	AML								C|||	1359	0.271366	0.2095	0.1643	5008	,	,		15466	0.3065		0.3131	False		,,,				2504	0.3517				p.G1827S	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	TRIP11	184	.	0			c.G5479A						PASS	.	C	SER/GLY	983,3423	368.6+/-318.7	100,783,1320	67	60	63		5479	3.9	0.6	14	dbSNP_86	63	2832,5768	445.8+/-361.1	497,1838,1965	yes	missense	TRIP11	NM_004239.3	56	597,2621,3285	TT,TC,CC		32.9302,22.3105,29.3326	probably-damaging	1827/1980	92441066	3815,9191	2203	4300	6503	SO:0001583	missense	9321	exon19			TAACACCGCCCTG	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5479G>A	14.37:g.92441066C>T	ENSP00000267622:p.Gly1827Ser	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	187	97	0.518717	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	600|600	0.27472527472527475|0.27472527472527475	98|98	0.1991869918699187|0.1991869918699187	63|63	0.17403314917127072|0.17403314917127072	193|193	0.3374125874125874|0.3374125874125874	246|246	0.3245382585751979|0.3245382585751979	C|C	17.62|17.62	3.433947|3.433947	0.62955|0.62955	0.223105|0.223105	0.329302|0.329302	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04970|.	3.52|.	5.71|5.71	3.9|3.9	0.45041|0.45041	.|.	0.050236|.	0.85682|.	D|.	0.000000|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.27053|0.27053	0.805|0.805	0.21915|0.21915	P|P	0.999473102|0.999473102	D;P|.	0.55800|.	0.973;0.903|.	B;B|.	0.41236|.	0.322;0.351|.	T|T	0.36939|0.36939	-0.9727|-0.9727	9|4	0.56958|.	D|.	0.05|.	.|.	12.3669|12.3669	0.55234|0.55234	0.0:0.8639:0.0:0.1361|0.0:0.8639:0.0:0.1361	rs1051340;rs3191717;rs8014538;rs11554399;rs17806291;rs61645330;rs1051340|rs1051340;rs3191717;rs8014538;rs11554399;rs17806291;rs61645330;rs1051340	1563;1827|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	S|Q	1827;1563|1542	ENSP00000267622:G1827S|.	ENSP00000267622:G1827S|.	G|R	-|-	1|2	0|0	TRIP11|TRIP11	91510819|91510819	0.962000|0.962000	0.33011|0.33011	0.632000|0.632000	0.29296|0.29296	0.597000|0.597000	0.36814|0.36814	2.209000|2.209000	0.42806|0.42806	0.770000|0.770000	0.33336|0.33336	-0.136000|-0.136000	0.14681|0.14681	GGT|CGG	C|0.709;T|0.291	0.291	strong		0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92441066	C	T	92441066	3	4	22	1	0	0	0	0	1	0	0	0	16552	652	23	1	472	1	TRIP11	14	92441066	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	176330	92441066	14908474	7464	12572										
TRIP11	9321	hgsc.bcm.edu	37	chr14	92474136	92474136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacttatgtctcttgtagCtgtacttttaattacttcat	4	8	2	0	rs372171033		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:92474136C>T	ENST00000267622.4	-	10	1748	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	459					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTCTTGTAGCTGTACTTTTA	0.303			T	PDGFRB	AML								c|||	1	0.000199681	0.0008	0.0	5008	,	,		19781	0.0		0.0	False		,,,				2504	0.0				p.A459T	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	TRIP11	184	.	0			c.G1375A						PASS	.	C	THR/ALA	5,4399	9.9+/-24.2	0,5,2197	105	97	100		1375	-3.3	0	14		100	0,8598		0,0,4299	no	missense	TRIP11	NM_004239.3	58	0,5,6496	TT,TC,CC		0.0,0.1135,0.0385	benign	459/1980	92474136	5,12997	2202	4299	6501	SO:0001583	missense	9321	exon10			TTGTAGCTGTACT	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1375G>A	14.37:g.92474136C>T	ENSP00000267622:p.Ala459Thr	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.257|4.257	0.046773|0.046773	0.08243|0.08243	0.001135|0.001135	0.0|0.0	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.64438|.	-0.1|.	5.85|5.85	-3.26|-3.26	0.05064|0.05064	.|.	1.114810|.	0.06492|.	N|.	0.734730|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	B;B|.	0.13594|.	0.003;0.008|.	B;B|.	0.13407|.	0.004;0.009|.	T|T	0.33007|0.33007	-0.9885|-0.9885	10|5	0.14252|.	T|.	0.57|.	.|.	7.9021|7.9021	0.29740|0.29740	0.1338:0.334:0.0:0.5322|0.1338:0.334:0.0:0.5322	.|.	195;459|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	T|N	459;195|174	ENSP00000267622:A459T|.	ENSP00000267622:A459T|.	A|S	-|-	1|2	0|0	TRIP11|TRIP11	91543889|91543889	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.220000|0.220000	0.24768|0.24768	-0.819000|-0.819000	0.04462|0.04462	-0.445000|-0.445000	0.07159|0.07159	0.561000|0.561000	0.74099|0.74099	GCT|AGC	.	.	weak		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92474136	C	T	92474136	3	4	22	1	0	0	0	0	1	0	0	0	16552	797	28	2	4612	2	TRIP11	14	92474136	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33070	92474136	14875404	7465	12573										
ATXN3	4287	hgsc.bcm.edu	37	chr14	92548785	92548785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatcatttgcttctaacaCtcgttccaggtctgttttat	6	11	3	0	rs1048755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:92548785C>T	ENST00000532032.1	-	8	643	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	ATXN3_ENST00000545170.1_Missense_Mutation_p.V212M|ATXN3_ENST00000502250.1_Missense_Mutation_p.V33M|ATXN3_ENST00000393287.5_Missense_Mutation_p.V212M|ATXN3_ENST00000429774.2_Missense_Mutation_p.V197M|ATXN3_ENST00000340660.6_Missense_Mutation_p.V157M|ATXN3_ENST00000503767.1_Missense_Mutation_p.V197M|ATXN3_ENST00000554491.1_5'UTR			P54252	ATX3_HUMAN	ataxin 3	212			V -> M (in dbSNP:rs1048755). {ECO:0000269|PubMed:7874163, ECO:0000269|PubMed:9274833, ECO:0000269|Ref.4}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GCTTCTAACACTCGTTCCAGG	0.398													C|||	1628	0.32508	0.3767	0.1455	5008	,	,		17313	0.4405		0.2237	False		,,,				2504	0.3681				p.V212M	Esophageal Squamous(190;752 2094 29897 44875 49530)	Atlas-SNP	.											.	ATXN3	46	.	0			c.G634A						PASS	.	C	MET/VAL,MET/VAL,,,,,MET/VAL,MET/VAL,MET/VAL,,MET/VAL,MET/VAL	1462,2944	472.2+/-356.3	252,958,993	132	118	123		589,481,,,,,271,97,424,,634,469	3.3	1	14	dbSNP_86	123	2087,6513	361.6+/-332.4	291,1505,2504	yes	missense,missense,intron,intron,intron,intron,missense,missense,missense,intron,missense,missense	ATXN3	NM_001127696.1,NM_001127697.2,NM_001164774.1,NM_001164776.1,NM_001164777.1,NM_001164778.1,NM_001164779.1,NM_001164780.1,NM_001164781.1,NM_001164782.1,NM_004993.5,NM_030660.4	21,21,,,,,21,21,21,,21,21	543,2463,3497	TT,TC,CC		24.2674,33.182,27.2874	benign,benign,,,,,benign,benign,benign,,benign,benign	197/347,161/311,,,,,91/241,33/183,142/292,,212/362,157/307	92548785	3549,9457	2203	4300	6503	SO:0001583	missense	4287	exon8			CTAACACTCGTTC	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.634G>A	14.37:g.92548785C>T	ENSP00000437157:p.Val212Met	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	189	84	0.444444	NM_004993	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37		671	0.30723443223443225	196	0.3983739837398374	49	0.13535911602209943	252	0.4405594405594406	174	0.22955145118733508	C	13.32	2.203207	0.38905	0.33182	0.242674	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33865	2.16;2.16;2.17;1.82;2.18;1.84;1.82;1.44;1.39;1.86;1.42;1.43;1.41;1.45	5.29	3.26	0.37387	.	0.533463	0.20675	N	0.087770	T	0.00012	0.0000	L	0.29908	0.895	0.46678	P	8.420000000000094E-4	B;B;B;B;B	0.25390	0.028;0.011;0.112;0.125;0.019	B;B;B;B;B	0.28232	0.043;0.01;0.087;0.087;0.036	T	0.47222	-0.9134	9	0.38643	T	0.18	.	11.6072	0.51039	0.1327:0.7949:0.0:0.0724	rs1048755;rs3188793;rs17807768;rs52836282;rs57139965;rs1048755	212;197;212;157;212	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	M	212;212;212;212;212;212;212;197;211;212;33;197;157;212;142;33;211;114;161;106;146	ENSP00000445618:V212M;ENSP00000389376:V197M;ENSP00000376965:V212M;ENSP00000425322:V33M;ENSP00000426697:V197M;ENSP00000339110:V157M;ENSP00000437157:V212M;ENSP00000451001:V142M;ENSP00000450642:V33M;ENSP00000451385:V211M;ENSP00000451417:V114M;ENSP00000451996:V161M;ENSP00000450641:V106M;ENSP00000435571:V146M	ENSP00000339110:V157M	V	-	1	0	ATXN3	91618538	0.993000	0.37304	0.995000	0.50966	0.984000	0.73092	2.237000	0.43061	1.243000	0.43853	0.485000	0.47835	GTG	C|0.699;T|0.301	0.301	strong		0.398	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		T	92548785	C	T	92548785	3	4	22	1	0	0	0	0	1	0	0	0	1213	565	20	2	467	2	ATXN3	14	92548785	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74649	92548785	14800755	7466	12574										
SLC24A4	123041	hgsc.bcm.edu	37	chr14	92922900	92922900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccgccacagccaccaccGccagagccagagccggtgga	12	19	0	2	rs77671856	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:92922900G>A	ENST00000532405.1	+	12	1429	c.1203G>A	c.(1201-1203)ccG>ccA	p.P401P	SLC24A4_ENST00000298877.1_Silent_p.P384P|SLC24A4_ENST00000351924.5_Silent_p.P365P|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Silent_p.P337P|SLC24A4_ENST00000531433.1_Silent_p.P382P			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	401	Poly-Pro.				amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGCCACCACCGCCAGAGCCAG	0.622											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	858	0.171326	0.1596	0.2392	5008	,	,		16905	0.0724		0.2445	False		,,,				2504	0.1656				p.P401P	NSCLC(10;315 435 10383 28450 38798)	Atlas-SNP	.											SLC24A4,colon,carcinoma,0,1	SLC24A4	112	1	0			c.G1203A						scavenged	.	G	,,	737,3659		68,601,1529	30	36	34		1203,1146,1011	1.1	0.2	14	dbSNP_131	34	2181,6399		274,1633,2383	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC24A4	NM_153646.3,NM_153647.3,NM_153648.3	,,	342,2234,3912	AA,AG,GG		25.4196,16.7652,22.4877	,,	401/623,382/604,337/559	92922900	2918,10058	2198	4290	6488	SO:0001819	synonymous_variant	123041	exon12			ACCACCGCCAGAG	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1203G>A	14.37:g.92922900G>A		Somatic	69	1	0.0144928	1293	WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	389	0.17811355311355312	71	0.1443089430894309	93	0.2569060773480663	42	0.07342657342657342	183	0.24142480211081793	G	0.084	-1.179173	0.01633	0.167652	0.254196	ENSG00000140090	ENST00000525557	.	.	.	4.15	1.06	0.20224	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.23762	-1.0179	3	.	.	.	.	6.9551	0.24565	0.1773:0.4239:0.3988:0.0	.	.	.	.	T	267	.	.	A	+	1	0	SLC24A4	91992653	0.000000	0.05858	0.203000	0.23512	0.007000	0.05969	-0.606000	0.05654	0.388000	0.25054	-0.384000	0.06662	GCC	G|0.792;A|0.208	0.208	strong		0.622	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		A	92922900	G	A	92922900	2	1	22	1	0	0	0	0	0	0	0	1	14468	1074	38	1		1	SLC24A4	14	92922900	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	374115	92922900	14426640	7467	12575										
RIN3	79890	hgsc.bcm.edu	37	chr14	93154540	93154540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcccctggacggtggtggCggcggcggcggcgggagccc	22	14	0	0	rs71461983|rs570458246|rs68153141|rs71698059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:93154540C>T	ENST00000216487.7	+	10	3060	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	967	Poly-Gly.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGGTGGTGGCGGCGGCGGCG	0.736													-|||	66	0.0131789	0.0068	0.0159	5008	,	,		9928	0.0099		0.0298	False		,,,				2504	0.0061				p.G967G		Atlas-SNP	.											.	RIN3	81	.	0			c.C2901T						PASS	.						5	7	7					14																	93154540		1961	3940	5901	SO:0001819	synonymous_variant	79890	exon10			TGGTGGCGGCGGC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2901C>T	14.37:g.93154540C>T		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	15	12	0.8	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																			C|0.974;T|0.026	0.026	strong		0.736	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			T	93154540	C	T	93154540	2	4	22	1	0	0	0	0	0	0	0	1	13373	755	27	1		1	RIN3	14	93154540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	231640	93154540	14195000	7468	12576										
MOAP1	64112	hgsc.bcm.edu	37	chr14	93649552	93649552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggtgaaattaccttccaAtattgcctggagaagggcct	10	9	1	2	rs114256363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:93649552A>G	ENST00000556883.1	-	2	1520	c.1036T>C	c.(1036-1038)Ttg>Ctg	p.L346L	MOAP1_ENST00000298894.4_Silent_p.L346L|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	346					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		TTACCTTCCAATATTGCCTGG	0.473													A|||	96	0.0191693	0.0696	0.0058	5008	,	,		21495	0.0		0.0	False		,,,				2504	0.0				p.L346L		Atlas-SNP	.											.	MOAP1	32	.	0			c.T1036C						PASS	.	A		233,4173	139.2+/-174.8	8,217,1978	99	90	93		1036	-4.4	0	14	dbSNP_132	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MOAP1	NM_022151.4		8,218,6277	GG,GA,AA		0.0116,5.2882,1.7992		346/352	93649552	234,12772	2203	4300	6503	SO:0001819	synonymous_variant	64112	exon3			CTTCCAATATTGC	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.1036T>C	14.37:g.93649552A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	111	48	0.432432	NM_022151	B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	CCDS9908.1																																																																																			A|0.982;G|0.018	0.018	strong		0.473	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			G	93649552	A	G	93649552	2	3	22	1	0	0	0	0	0	0	0	1	9680	98	4	2		2	MOAP1	14	93649552	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	495012	93649552	13699988	7469	12577										
C14orf109	64112	hgsc.bcm.edu	37	chr14	93652734	93652734	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacttacaacaggctggcCttggaacacattcaacagca	9	11	1	1	rs61744704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:93652734C>T	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Silent_p.A38A|TMEM251_ENST00000415050.2_Silent_p.A76A|RP11-371E8.4_ENST00000557574.1_Silent_p.A38A			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ACAGGCTGGCCTTGGAACACA	0.478													C|||	20	0.00399361	0.0151	0.0	5008	,	,		18903	0.0		0.0	False		,,,				2504	0.0				p.A76A		Atlas-SNP	.											.	.	.	.	0			c.C228T						PASS	.	C	,	42,3868		0,42,1913	165	163	164		228,114	-0.2	1	14	dbSNP_129	164	0,8292		0,0,4146	no	coding-synonymous,coding-synonymous	C14orf109	NM_001098621.1,NM_015676.1	,	0,42,6059	TT,TC,CC		0.0,1.0742,0.3442	,	76/170,38/132	93652734	42,12160	1955	4146	6101	SO:0001631	upstream_gene_variant	26175	exon2			GCTGGCCTTGGAA	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652734C>T	Exception_encountered	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	263	133	0.505703	NM_001098621	B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	CCDS9908.1																																																																																			C|0.997;T|0.003	0.003	strong		0.478	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			T	93652734	C	T	93652734	1	4	22	0	1	0	0	0	0	0	0	0	1739	668	24	2		2	C14orf109	14	93652734	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3182	93652734	13696806	7470	12578										
KIAA1409	57578	hgsc.bcm.edu	37	chr14	94173098	94173098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggctattcagaaccacGtgaaccaccacagcctaagg	8	14	1	2	rs76642035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94173098G>A	ENST00000393151.2	+	50	7756	c.7756G>A	c.(7756-7758)Gtg>Atg	p.V2586M	UNC79_ENST00000555664.1_Missense_Mutation_p.V2547M|UNC79_ENST00000256339.4_Missense_Mutation_p.V2409M|UNC79_ENST00000553484.1_Missense_Mutation_p.V2608M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2586					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGAACCACGTGAACCACCA	0.557													G|||	22	0.00439297	0.0159	0.0014	5008	,	,		17791	0.0		0.0	False		,,,				2504	0.0				p.V2409M		Atlas-SNP	.											.	UNC79	366	.	0			c.G7225A						PASS	.	G	MET/VAL	61,4345	57.4+/-93.9	1,59,2143	69	74	73		7225	5.8	1	14	dbSNP_131	73	0,8600		0,0,4300	yes	missense	UNC79	NM_020818.3	21	1,59,6443	AA,AG,GG		0.0,1.3845,0.469	probably-damaging	2409/2459	94173098	61,12945	2203	4300	6503	SO:0001583	missense	57578	exon50			AACCACGTGAACC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7756G>A	14.37:g.94173098G>A	ENSP00000376858:p.Val2586Met	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	23.0	4.363881	0.82353	0.013845	0.0	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19806	2.12;2.14;2.12;2.12	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.05037	-1.0910	10	0.52906	T	0.07	-21.9581	20.0407	0.97588	0.0:0.0:1.0:0.0	.	2608	C9JQL1	.	M	2409;2547;2608;2586;2608	ENSP00000256339:V2409M;ENSP00000450868:V2547M;ENSP00000451360:V2608M;ENSP00000376858:V2586M	ENSP00000256339:V2409M	V	+	1	0	KIAA1409	93242851	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.746000	0.94184	0.561000	0.74099	GTG	G|0.996;A|0.004	0.004	strong		0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	94173098	G	A	94173098	3	1	22	1	0	0	0	0	1	0	0	0	8230	1145	40	1	7411	1	KIAA1409	14	94173098	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	520364	94173098	13176442	7471	12579										
PRIMA1	145270	hgsc.bcm.edu	37	chr14	94187816	94187816	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgcgttgttcacgtctaCtcctttgttgctctgcgaag	9	12	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94187816C>G	ENST00000393140.1	-	5	538	c.436G>C	c.(436-438)Gta>Cta	p.V146L	PRIMA1_ENST00000393143.1_Missense_Mutation_p.V146L|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	146					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TTCACGTCTACTCCTTTGTTG	0.577																																					p.V146L		Atlas-SNP	.											.	PRIMA1	21	.	0			c.G436C						PASS	.						142	101	115					14																	94187816		2203	4300	6503	SO:0001583	missense	145270	exon5			CGTCTACTCCTTT		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.436G>C	14.37:g.94187816C>G	ENSP00000376848:p.Val146Leu	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_178013	Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815771	0.50527	.	.	ENSG00000175785	ENST00000393140;ENST00000393143	.	.	.	4.65	3.72	0.42706	.	0.948209	0.08632	N	0.916915	T	0.45736	0.1357	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	9	0.49607	T	0.09	-3.289	10.1546	0.42814	0.1979:0.8021:0.0:0.0	.	146	Q86XR5	PRIMA_HUMAN	L	146	.	ENSP00000376848:V146L	V	-	1	0	PRIMA1	93257569	1.000000	0.71417	0.998000	0.56505	0.070000	0.16714	2.628000	0.46477	2.135000	0.66039	0.591000	0.81541	GTA	.	.	none		0.577	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		G	94187816	C	G	94187816	3	3	22	1	0	0	0	0	1	0	0	0	12492	565	20	4	29	4	PRIMA1	14	94187816	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14718	94187816	13161724	7472	12580										
ASB2	51676	hgsc.bcm.edu	37	chr14	94401102	94401102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaatggcctttcgaaccCgcagtcggcaaaggtgagcc	11	14	0	1	rs35858830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94401102C>T	ENST00000315988.4	-	8	2152	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	ASB2_ENST00000555019.1_Missense_Mutation_p.R603Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	555	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTCGAACCCGCAGTCGGCA	0.478													C|||	42	0.00838658	0.0038	0.0144	5008	,	,		22330	0.002		0.0109	False		,,,				2504	0.0143				p.R603Q		Atlas-SNP	.											.	ASB2	71	.	0			c.G1808A						PASS	.	C	GLN/ARG,GLN/ARG	37,4369	42.3+/-75.8	1,35,2167	83	84	84		1808,1664	2.4	1	14	dbSNP_126	84	171,8429	79.2+/-141.9	1,169,4130	yes	missense,missense	ASB2	NM_001202429.1,NM_016150.4	43,43	2,204,6297	TT,TC,CC		1.9884,0.8398,1.5993	benign,benign	603/636,555/588	94401102	208,12798	2203	4300	6503	SO:0001583	missense	51676	exon10			CGAACCCGCAGTC	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1664G>A	14.37:g.94401102C>T	ENSP00000320675:p.Arg555Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	88	41	0.465909	NM_001202429	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	CCDS9915.1	17	0.007783882783882784	3	0.006097560975609756	5	0.013812154696132596	2	0.0034965034965034965	7	0.009234828496042216	C	13.32	2.201541	0.38905	0.008398	0.019884	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	T;T	0.43688	0.94;0.94	5.44	2.36	0.29203	SOCS protein, C-terminal (3);	0.230510	0.41605	N	0.000842	T	0.10981	0.0268	N	0.11673	0.155	0.32024	N	0.600374	B;B	0.09022	0.002;0.002	B;B	0.12837	0.004;0.008	T	0.09530	-1.0670	10	0.33141	T	0.24	.	8.4054	0.32612	0.0:0.536:0.0:0.464	rs35858830	603;555	B4E166;Q96Q27	.;ASB2_HUMAN	Q	603;571;555	ENSP00000451575:R603Q;ENSP00000320675:R555Q	ENSP00000320675:R555Q	R	-	2	0	ASB2	93470855	0.012000	0.17670	0.996000	0.52242	0.974000	0.67602	-0.537000	0.06128	0.150000	0.19136	0.491000	0.48974	CGG	C|0.985;T|0.015	0.015	strong		0.478	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			T	94401102	C	T	94401102	3	4	22	1	0	0	0	0	1	0	0	0	1023	652	23	1	103	1	ASB2	14	94401102	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	213286	94401102	12948438	7473	12581										
DDX24	57062	hgsc.bcm.edu	37	chr14	94526812	94526812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggattcgagcaggagcCtgatgcaccagggtgagtgt	16	7	0	3	rs11845400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94526812C>T	ENST00000330836.5	-	5	1676	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	DDX24_ENST00000555054.1_Silent_p.Q472Q|DDX24_ENST00000544005.1_Silent_p.Q265Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	515	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAGCAGGAGCCTGATGCACCA	0.473													C|||	202	0.0403355	0.1483	0.0043	5008	,	,		21521	0.0		0.002	False		,,,				2504	0.001				p.Q515Q		Atlas-SNP	.											.	DDX24	82	.	0			c.G1545A						PASS	.	C		558,3848	249.6+/-257.0	33,492,1678	192	177	182		1545	-1.5	1	14	dbSNP_120	182	39,8561	26.3+/-74.7	0,39,4261	no	coding-synonymous	DDX24	NM_020414.3		33,531,5939	TT,TC,CC		0.4535,12.6645,4.5902		515/860	94526812	597,12409	2203	4300	6503	SO:0001819	synonymous_variant	57062	exon5			AGGAGCCTGATGC	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1545G>A	14.37:g.94526812C>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	228	118	0.517544	NM_020414	E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																			C|0.952;T|0.048	0.048	strong		0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		T	94526812	C	T	94526812	2	4	22	1	0	0	0	0	0	0	0	1	4351	680	24	2		2	DDX24	14	94526812	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	125710	94526812	12822728	7474	12582										
SERPINA10	51156	hgsc.bcm.edu	37	chr14	94754804	94754804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcaaacttgcctgcacCgtacatcatgggcaccttaa	10	12	1	0	rs2232708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94754804C>T	ENST00000393096.1	-	3	1276	c.811G>A	c.(811-813)Ggt>Agt	p.G271S	SERPINA10_ENST00000261994.4_Missense_Mutation_p.G271S|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G271S|SERPINA10_ENST00000554723.1_Missense_Mutation_p.G311S	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	271			G -> S (in dbSNP:rs2232708). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTGCCTGCACCGTACATCATG	0.493													C|||	166	0.033147	0.1044	0.0144	5008	,	,		22206	0.0		0.006	False		,,,				2504	0.0123				p.G271S		Atlas-SNP	.											.	SERPINA10	83	.	0			c.G811A						PASS	.	C	SER/GLY,SER/GLY	381,4025	193.6+/-218.7	22,337,1844	127	111	117		811,811	-2.3	0	14	dbSNP_98	117	70,8530	42.6+/-100.3	0,70,4230	yes	missense,missense	SERPINA10	NM_001100607.1,NM_016186.2	56,56	22,407,6074	TT,TC,CC		0.814,8.6473,3.4676	benign,benign	271/445,271/445	94754804	451,12555	2203	4300	6503	SO:0001583	missense	51156	exon3			CTGCACCGTACAT	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.811G>A	14.37:g.94754804C>T	ENSP00000376809:p.Gly271Ser	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	143	66	0.461538	NM_001100607	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	64	0.029304029304029304	56	0.11382113821138211	5	0.013812154696132596	0	0.0	3	0.00395778364116095	C	7.239	0.600804	0.13939	0.086473	0.00814	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.37	-2.29	0.06805	Serpin domain (3);	0.905436	0.09297	N	0.821441	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.24618	0.107	B	0.14578	0.011	T	0.05305	-1.0893	10	0.54805	T	0.06	.	7.1697	0.25712	0.0:0.1453:0.4539:0.4008	rs2232708;rs52801294;rs60234914;rs2232708	271	Q9UK55	ZPI_HUMAN	S	311;271;271;271	ENSP00000450896:G311S;ENSP00000376809:G271S;ENSP00000261994:G271S;ENSP00000450971:G271S	ENSP00000261994:G271S	G	-	1	0	SERPINA10	93824557	0.254000	0.23992	0.002000	0.10522	0.080000	0.17528	0.415000	0.21181	-0.291000	0.09012	0.313000	0.20887	GGT	C|0.961;T|0.039	0.039	strong		0.493	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94754804	C	T	94754804	3	4	22	1	0	0	0	0	1	0	0	0	14087	652	23	1	535	1	SERPINA10	14	94754804	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	227992	94754804	12594736	7475	12583										
SERPINA10	51156	hgsc.bcm.edu	37	chr14	94756750	94756750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggctttctcttcctcacTggccttctcctcgctggcct	7	18	3	0	rs941591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94756750T>C	ENST00000393096.1	-	2	646	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	SERPINA10_ENST00000261994.4_Missense_Mutation_p.S61G|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S61G|SERPINA10_ENST00000554723.1_Missense_Mutation_p.S101G	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	61			S -> G (in dbSNP:rs941591). {ECO:0000269|PubMed:12975309, ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S61G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCTTCCTCACTGGCCTTCTCC	0.592													T|||	1727	0.344848	0.4614	0.1513	5008	,	,		20023	0.6052		0.166	False		,,,				2504	0.2403				p.S61G		Atlas-SNP	.											SERPINA10,NS,carcinoma,0,1	SERPINA10	83	1	1	Substitution - Missense(1)	stomach(1)	c.A181G						PASS	.	T	GLY/SER,GLY/SER	1748,2658	520.2+/-370.2	366,1016,821	55	51	52		181,181	-2.3	0	14	dbSNP_86	52	1414,7186	271.7+/-289.7	124,1166,3010	yes	missense,missense	SERPINA10	NM_001100607.1,NM_016186.2	56,56	490,2182,3831	CC,CT,TT		16.4419,39.6732,24.3119	benign,benign	61/445,61/445	94756750	3162,9844	2203	4300	6503	SO:0001583	missense	51156	exon2			CCTCACTGGCCTT	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.181A>G	14.37:g.94756750T>C	ENSP00000376809:p.Ser61Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	45	0.494505	NM_001100607	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	766	0.3507326007326007	242	0.491869918699187	56	0.15469613259668508	341	0.5961538461538461	127	0.16754617414248021	T	0.007	-2.006494	0.00426	0.396732	0.164419	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.85629	-2.01;-1.97;-1.97;-1.97	1.16	-2.32	0.06745	Serpin domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35847	-0.9772	8	0.26408	T	0.33	.	6.1543	0.20328	0.0:0.5275:0.0:0.4725	rs941591;rs52819624;rs60013744;rs941591	61	Q9UK55	ZPI_HUMAN	G	101;61;61;61	ENSP00000450896:S101G;ENSP00000376809:S61G;ENSP00000261994:S61G;ENSP00000450971:S61G	ENSP00000261994:S61G	S	-	1	0	SERPINA10	93826503	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-4.369000	0.00245	-2.725000	0.00387	-2.748000	0.00125	AGT	T|0.700;C|0.300	0.300	strong		0.592	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		C	94756750	T	C	94756750	3	2	22	1	0	0	0	0	1	0	0	0	14087	1580	55	3	1169	3	SERPINA10	14	94756750	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1946	94756750	12592790	7476	12584										
SERPINA6	866	hgsc.bcm.edu	37	chr14	94772429	94772429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgatgacttcagctgggcGtcctgggtgatgcgtgagaa	15	7	1	4	rs2228543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94772429G>A	ENST00000341584.3	-	4	1157	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	337					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGCTGGGCGTCCTGGGTGA	0.468													G|||	770	0.153754	0.3343	0.0965	5008	,	,		22300	0.0069		0.1531	False		,,,				2504	0.1022				p.D337D		Atlas-SNP	.											SERPINA6_ENST00000341584,NS,carcinoma,-2,2	SERPINA6	102	2	0			c.C1011T						PASS	.	G		1457,2949	470.7+/-355.8	247,963,993	136	122	127		1011	-4.2	0	14	dbSNP_98	127	1226,7374	246.9+/-275.2	86,1054,3160	no	coding-synonymous	SERPINA6	NM_001756.3		333,2017,4153	AA,AG,GG		14.2558,33.0685,20.6289		337/406	94772429	2683,10323	2203	4300	6503	SO:0001819	synonymous_variant	866	exon4			CTGGGCGTCCTGG	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1011C>T	14.37:g.94772429G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	95	40	0.421053	NM_001756	A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	CCDS9924.1																																																																																			G|0.677;T|0.043	.	strong		0.468	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		A	94772429	G	A	94772429	2	1	22	1	0	0	0	0	0	0	0	1	14093	1136	40	1		1	SERPINA6	14	94772429	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15679	94772429	12577111	7477	12585										
SERPINA1	5265	hgsc.bcm.edu	37	chr14	94844975	94844975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagcacagccttatgcacGgcctggaggggagagaagca	15	10	1	1	rs9630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:94844975G>A	ENST00000448921.1	-	7	1640	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	SERPINA1_ENST00000449399.3_Silent_p.A356A|SERPINA1_ENST00000393087.4_Silent_p.A356A|SERPINA1_ENST00000440909.1_Silent_p.A356A|SERPINA1_ENST00000437397.1_Silent_p.A356A|SERPINA1_ENST00000404814.4_Silent_p.A356A|SERPINA1_ENST00000393088.4_Silent_p.A356A|SERPINA1_ENST00000355814.4_Silent_p.A356A	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	356					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCTTATGCACGGCCTGGAGGG	0.592													G|||	50	0.00998403	0.0356	0.0043	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.0				p.A356A		Atlas-SNP	.											.	SERPINA1	51	.	0			c.C1068T						PASS	.	G	,,,,,,,,,,	122,4284	90.2+/-128.9	1,120,2082	80	59	66		1068,1068,1068,1068,1068,1068,1068,1068,1068,1068,1068	-9.6	0	14	dbSNP_52	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	,,,,,,,,,,	1,121,6381	AA,AG,GG		0.0116,2.769,0.9457	,,,,,,,,,,	356/419,356/419,356/419,356/419,356/419,356/419,356/419,356/419,356/419,356/419,356/419	94844975	123,12883	2203	4300	6503	SO:0001819	synonymous_variant	5265	exon7			ATGCACGGCCTGG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1068C>T	14.37:g.94844975G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	168	82	0.488095	NM_001127701	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	CCDS9925.1																																																																																			G|0.989;A|0.011	0.011	strong		0.592	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		A	94844975	G	A	94844975	2	1	22	1	0	0	0	0	0	0	0	1	14086	1103	39	1		1	SERPINA1	14	94844975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72546	94844975	12504565	7478	12586										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95053849	95053849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagaagggactttaccttTgacctctacagggccttggc	11	11	1	2	rs6113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95053849T>C	ENST00000554866.1	+	2	264	c.150T>C	c.(148-150)ttT>ttC	p.F50F	SERPINA5_ENST00000554276.1_Silent_p.F50F|SERPINA5_ENST00000329597.7_Silent_p.F50F|SERPINA5_ENST00000553780.1_Silent_p.F50F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	50					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACTTTACCTTTGACCTCTACA	0.627													C|||	1378	0.27516	0.6157	0.1182	5008	,	,		18499	0.2798		0.0905	False		,,,				2504	0.1115				p.F50F		Atlas-SNP	.											.	SERPINA5	69	.	0			c.T150C						PASS	.	C		2249,2157	580.2+/-385.1	575,1099,529	47	44	45		150	-8.1	0	14	dbSNP_52	45	817,7783	780.7+/-407.7	41,735,3524	no	coding-synonymous	SERPINA5	NM_000624.4		616,1834,4053	CC,CT,TT		9.5,48.956,23.5737		50/407	95053849	3066,9940	2203	4300	6503	SO:0001819	synonymous_variant	5104	exon3			TACCTTTGACCTC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.150T>C	14.37:g.95053849T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	38	0.426966	NM_000624	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																			C|0.249;N|0.000	0.249	strong		0.627	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		C	95053849	T	C	95053849	2	2	22	1	0	0	0	0	0	0	0	1	14092	1809	63	2		2	SERPINA5	14	95053849	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	208874	95053849	12295691	7479	12587										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95053863	95053863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctttgacctctacagggCcttggcttccgctgccccca	8	17	1	1	rs6118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95053863C>T	ENST00000554866.1	+	2	278	c.164C>T	c.(163-165)gCc>gTc	p.A55V	SERPINA5_ENST00000553780.1_Missense_Mutation_p.A55V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.A55V|SERPINA5_ENST00000329597.7_Missense_Mutation_p.A55V			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	55			A -> V (in allele PCI*B; dbSNP:rs6118). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:8713781, ECO:0000269|Ref.6}.		fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCTACAGGGCCTTGGCTTCC	0.617													C|||	1382	0.275958	0.6157	0.1196	5008	,	,		18490	0.2758		0.0905	False		,,,				2504	0.1186				p.A55V		Atlas-SNP	.											.	SERPINA5	69	.	0			c.C164T						PASS	.	C	VAL/ALA	2242,2164	582.4+/-385.6	573,1096,534	42	40	41		164	0.8	1	14	dbSNP_52	41	818,7782	188.4+/-235.4	41,736,3523	yes	missense	SERPINA5	NM_000624.4	64	614,1832,4057	TT,TC,CC		9.5116,49.1148,23.5276	possibly-damaging	55/407	95053863	3060,9946	2203	4300	6503	SO:0001583	missense	5104	exon3			ACAGGGCCTTGGC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.164C>T	14.37:g.95053863C>T	ENSP00000451126:p.Ala55Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_000624	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	551	0.2522893772893773	291	0.5914634146341463	48	0.13259668508287292	142	0.24825174825174826	70	0.09234828496042216	C	2.095	-0.407466	0.04832	0.508852	0.095116	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554633;ENST00000555681;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.11	0.813	0.18749	Serpin domain (3);	0.357145	0.22789	N	0.055621	T	0.00012	0.0000	L	0.42686	1.345	0.80722	P	0.0	P;P	0.43885	0.784;0.82	B;B	0.33339	0.153;0.162	T	0.48547	-0.9026	9	0.40728	T	0.16	.	6.2696	0.20947	0.343:0.3768:0.2802:0.0	rs6118;rs933176;rs60797362;rs6118	55;55	G3V5Q9;P05154	.;IPSP_HUMAN	V	55	ENSP00000450484:A55V;ENSP00000450837:A55V;ENSP00000452469:A55V;ENSP00000451126:A55V;ENSP00000333203:A55V;ENSP00000450745:A55V;ENSP00000451215:A55V;ENSP00000451697:A55V;ENSP00000451650:A55V;ENSP00000451610:A55V;ENSP00000450485:A55V	ENSP00000333203:A55V	A	+	2	0	SERPINA5	94123616	0.000000	0.05858	0.996000	0.52242	0.121000	0.20230	0.741000	0.26202	0.442000	0.26555	0.561000	0.74099	GCC	C|0.764;T|0.236	0.236	strong		0.617	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		T	95053863	C	T	95053863	3	4	22	1	0	0	0	0	1	0	0	0	14092	739	26	2	166	2	SERPINA5	14	95053863	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	95053863	12295677	7480	12588										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95053891	95053891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgctgcccccagccagagCatcttcttctcccctgtgag	8	18	3	2	rs6111|rs386780205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95053891C>T	ENST00000554866.1	+	2	306	c.192C>T	c.(190-192)agC>agT	p.S64S	SERPINA5_ENST00000553780.1_Silent_p.S64S|SERPINA5_ENST00000554276.1_Silent_p.S64S|SERPINA5_ENST00000329597.7_Silent_p.S64S			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	64			S -> N (in dbSNP:rs6115). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1714450, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:2173165, ECO:0000269|PubMed:3027058, ECO:0000269|PubMed:8471250, ECO:0000269|PubMed:8713781, ECO:0000269|Ref.6}.		fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGCCAGAGCATCTTCTTCT	0.622													C|||	1366	0.272764	0.612	0.1167	5008	,	,		18414	0.2748		0.0905	False		,,,				2504	0.1104				p.S64S		Atlas-SNP	.											.	SERPINA5	69	.	0			c.C192T						PASS	.	C		2148,2258		574,1000,629	34	35	35		192	1.2	0.3	14	dbSNP_52	35	751,7849		41,669,3590	no	coding-synonymous	SERPINA5	NM_000624.4		615,1669,4219	TT,TC,CC		8.7326,48.7517,22.2897		64/407	95053891	2899,10107	2203	4300	6503	SO:0001819	synonymous_variant	5104	exon3			CCAGAGCATCTTC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.192C>T	14.37:g.95053891C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_000624	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																			C|0.783;T|0.217	0.217	strong		0.622	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		T	95053891	C	T	95053891	2	4	22	1	0	0	0	0	0	0	0	1	14092	709	25	2		2	SERPINA5	14	95053891	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28	95053891	12295649	7481	12589										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95054012	95054012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctccagaaaagctcagagAaggagctgcacagaggcttt	11	10	1	3	rs6119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95054012A>G	ENST00000554866.1	+	2	427	c.313A>G	c.(313-315)Aag>Gag	p.K105E	SERPINA5_ENST00000553780.1_Missense_Mutation_p.K105E|SERPINA5_ENST00000554276.1_Missense_Mutation_p.K105E|SERPINA5_ENST00000329597.7_Missense_Mutation_p.K105E			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	105			K -> E (in allele PCI*B; dbSNP:rs6119). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:8713781, ECO:0000269|Ref.6}.		fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AAGCTCAGAGAAGGAGCTGCA	0.592													G|||	1347	0.26897	0.615	0.1182	5008	,	,		19503	0.25		0.0905	False		,,,				2504	0.1115				p.K105E		Atlas-SNP	.											.	SERPINA5	69	.	0			c.A313G						PASS	.	G	GLU/LYS	2260,2146	574.6+/-383.8	585,1090,528	33	32	32		313	2	0	14	dbSNP_52	32	813,7787	779.3+/-407.7	41,731,3528	yes	missense	SERPINA5	NM_000624.4	56	626,1821,4056	GG,GA,AA		9.4535,48.7063,23.6276	benign	105/407	95054012	3073,9933	2203	4300	6503	SO:0001583	missense	5104	exon3			TCAGAGAAGGAGC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.313A>G	14.37:g.95054012A>G	ENSP00000451126:p.Lys105Glu	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_000624	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	532	0.24358974358974358	289	0.5873983739837398	48	0.13259668508287292	125	0.21853146853146854	70	0.09234828496042216	G	0.126	-1.119664	0.01785	0.512937	0.094535	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000555681;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	3.94	2.01	0.26516	Serpin domain (3);	0.758820	0.12020	N	0.507024	T	0.00012	0.0000	N	0.00599	-1.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40664	-0.9551	9	0.02654	T	1	.	4.9873	0.14196	0.08:0.2673:0.5152:0.1375	rs6119;rs3190222;rs61244877;rs6119	105;105	G3V5Q9;P05154	.;IPSP_HUMAN	E	105	ENSP00000450484:K105E;ENSP00000450837:K105E;ENSP00000452469:K105E;ENSP00000451126:K105E;ENSP00000333203:K105E;ENSP00000450745:K105E;ENSP00000451650:K105E;ENSP00000451610:K105E;ENSP00000450485:K105E	ENSP00000333203:K105E	K	+	1	0	SERPINA5	94123765	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.520000	0.06252	0.085000	0.17107	-0.231000	0.12243	AAG	A|0.750;G|0.250	0.250	strong		0.592	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		G	95054012	A	G	95054012	3	3	22	1	0	0	0	0	1	0	0	0	14092	247	9	2	315	2	SERPINA5	14	95054012	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	121	95054012	12295528	7482	12590										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95056407	95056407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacaagcttcaaccacaaaGgcacccaagagcaagacttc	7	13	1	3	rs6114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95056407G>C	ENST00000554866.1	+	3	763	c.649G>C	c.(649-651)Ggc>Cgc	p.G217R	SERPINA5_ENST00000554276.1_Missense_Mutation_p.G217R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000329597.7_Missense_Mutation_p.G217R|SERPINA5_ENST00000553780.1_Missense_Mutation_p.G217R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	217			G -> R (in dbSNP:rs6114). {ECO:0000269|PubMed:10391209, ECO:0000269|Ref.6}.		fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAACCACAAAGGCACCCAAGA	0.453													G|||	129	0.0257588	0.0923	0.0101	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.0				p.G217R		Atlas-SNP	.											.	SERPINA5	69	.	0			c.G649C						PASS	.	G	ARG/GLY	374,4032	190.5+/-216.4	22,330,1851	71	65	67		649	-2.1	0	14	dbSNP_52	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SERPINA5	NM_000624.4	125	22,331,6150	CC,CG,GG		0.0116,8.4884,2.8833	benign	217/407	95056407	375,12631	2203	4300	6503	SO:0001583	missense	5104	exon4			CACAAAGGCACCC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.649G>C	14.37:g.95056407G>C	ENSP00000451126:p.Gly217Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	121	50	0.413223	NM_000624	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	53	0.024267399267399268	48	0.0975609756097561	5	0.013812154696132596	0	0.0	0	0.0	G	1.396	-0.579550	0.03854	0.084884	1.16E-4	ENSG00000188488	ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.63	-2.09	0.07232	Serpin domain (3);	1.511820	0.03611	N	0.234832	T	0.03564	0.0102	N	0.02751	-0.505	0.09310	N	1	B;B	0.18461	0.024;0.028	B;B	0.26864	0.074;0.023	T	0.23226	-1.0194	10	0.33141	T	0.24	.	3.7717	0.08645	0.3912:0.0:0.3351:0.2737	rs6114;rs6114	217;217	G3V5Q9;P05154	.;IPSP_HUMAN	R	217;217;217;217;217;69;141;217	ENSP00000450837:G217R;ENSP00000452469:G217R;ENSP00000451126:G217R;ENSP00000333203:G217R;ENSP00000450745:G217R;ENSP00000451610:G217R	ENSP00000333203:G217R	G	+	1	0	SERPINA5	94126160	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.700000	0.01905	-0.323000	0.08602	-0.378000	0.06908	GGC	G|0.974;C|0.026	0.026	strong		0.453	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		C	95056407	G	C	95056407	3	2	22	1	0	0	0	0	1	0	0	0	14092	1000	35	4	655	4	SERPINA5	14	95056407	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2395	95056407	12293133	7483	12591										
SERPINA5	5104	hgsc.bcm.edu	37	chr14	95058477	95058477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatattcactttcaggtcGgcccgcctgaactctcagag	8	13	3	2	rs6117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95058477G>A	ENST00000554866.1	+	5	1236	c.1122G>A	c.(1120-1122)tcG>tcA	p.S374S	SERPINA5_ENST00000553780.1_Silent_p.S374S|SERPINA5_ENST00000554276.1_Silent_p.S374S|SERPINA5_ENST00000329597.7_Silent_p.S374S|RP11-986E7.7_ENST00000553947.1_Intron			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	374		Reactive bond.			fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCAGGTCGGCCCGCCTGA	0.557													G|||	199	0.0397364	0.1399	0.0202	5008	,	,		18216	0.0		0.0	False		,,,				2504	0.0				p.S374S		Atlas-SNP	.											.	SERPINA5	69	.	0			c.G1122A						PASS	.	G		562,3844	251.8+/-258.4	41,480,1682	208	214	212		1122	-6.8	0	14	dbSNP_52	212	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	SERPINA5	NM_000624.4		41,487,5975	AA,AG,GG		0.0814,12.7553,4.3749		374/407	95058477	569,12437	2203	4300	6503	SO:0001819	synonymous_variant	5104	exon6			CAGGTCGGCCCGC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1122G>A	14.37:g.95058477G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	124	77	0.620968	NM_000624	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																			G|0.956;A|0.044	0.044	strong		0.557	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		A	95058477	G	A	95058477	2	1	22	1	0	0	0	0	0	0	0	1	14092	1103	39	1		1	SERPINA5	14	95058477	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2070	95058477	12291063	7484	12592										
DICER1	23405	hgsc.bcm.edu	37	chr14	95572111	95572111	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaaatgtcgaggtgtcaaAagattaagtctgtaagaatt	9	4	3	2	rs12018992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95572111A>C	ENST00000526495.1	-	21	3288	c.2997T>G	c.(2995-2997)ctT>ctG	p.L999L	DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000393063.1_Silent_p.L999L|DICER1_ENST00000527414.1_Silent_p.L999L|DICER1_ENST00000343455.3_Silent_p.L999L|DICER1_ENST00000541352.1_Silent_p.L999L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	999	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAGGTGTCAAAAGATTAAGTC	0.383			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				A|||	99	0.0197684	0.0711	0.0072	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0				p.L999L		Atlas-SNP	.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	.	DICER1	181	.	0			c.T2997G						PASS	.	A	,,	252,4154	141.9+/-177.2	11,230,1962	62	62	62		2997,2997,2997	4.2	1	14	dbSNP_120	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	,,	11,231,6261	CC,CA,AA		0.0116,5.7195,1.9453	,,	999/1830,999/1923,999/1923	95572111	253,12753	2203	4300	6503	SO:0001819	synonymous_variant	23405	exon20	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	TGTCAAAAGATTA	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2997T>G	14.37:g.95572111A>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	115	47	0.408696	NM_030621	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																			A|0.977;C|0.023	0.023	strong		0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			C	95572111	A	C	95572111	2	2	22	1	0	0	0	0	0	0	0	1	4521	1	1	5		5	DICER1	14	95572111	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	513634	95572111	11777429	7485	12593										
C14orf49	161176	hgsc.bcm.edu	37	chr14	95906023	95906023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagctcctcctgcaccacGgcagcaccctccggagaaga	10	17	0	3	rs17828632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95906023G>A	ENST00000334258.5	-	12	2186	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	SYNE3_ENST00000554873.1_Silent_p.A481A|SYNE3_ENST00000557275.1_Silent_p.A724A	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	724					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCTGCACCACGGCAGCACCCT	0.637													G|||	629	0.125599	0.0756	0.0865	5008	,	,		19100	0.1677		0.0944	False		,,,				2504	0.2096				p.A724A		Atlas-SNP	.											.	SYNE3	130	.	0			c.C2172T						PASS	.	G		376,4030	191.6+/-217.2	19,338,1846	50	52	51		2172	-4.1	0	14	dbSNP_123	51	1136,7464	235.4+/-268.0	79,978,3243	no	coding-synonymous	C14orf49	NM_152592.3		98,1316,5089	AA,AG,GG		13.2093,8.5338,11.6254		724/976	95906023	1512,11494	2203	4300	6503	SO:0001819	synonymous_variant	161176	exon12			CACCACGGCAGCA	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2172C>T	14.37:g.95906023G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	79	29	0.367089	NM_152592	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																			G|0.883;A|0.117	0.117	strong		0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95906023	G	A	95906023	2	1	22	1	0	0	0	0	0	0	0	1	1776	1103	39	1		1	C14orf49	14	95906023	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	333912	95906023	11443517	7486	12594										
C14orf49	161176	hgsc.bcm.edu	37	chr14	95921722	95921722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcacgcttaccgagtagcGtctccagtgtgccaccagct	10	14	1	0	rs74079986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95921722G>A	ENST00000334258.5	-	5	1143	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	SYNE3_ENST00000554873.1_Missense_Mutation_p.R134C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R377C|SYNE3_ENST00000553340.1_Missense_Mutation_p.R377C	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	377					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						ACCGAGTAGCGTCTCCAGTGT	0.647													G|||	60	0.0119808	0.0439	0.0029	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0				p.R377C		Atlas-SNP	.											.	SYNE3	130	.	0			c.C1129T						PASS	.	G	CYS/ARG	174,4232	108.6+/-147.0	5,164,2034	29	32	31		1129	3	0.5	14	dbSNP_130	31	1,8597	1.2+/-3.3	0,1,4298	yes	missense	C14orf49	NM_152592.3	180	5,165,6332	AA,AG,GG		0.0116,3.9492,1.3457	possibly-damaging	377/976	95921722	175,12829	2203	4299	6502	SO:0001583	missense	161176	exon5			AGTAGCGTCTCCA	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1129C>T	14.37:g.95921722G>A	ENSP00000334308:p.Arg377Cys	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	45	0.6	NM_152592	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	G	13.55	2.271639	0.40194	0.039492	1.16E-4	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.37058	3.5;1.22;3.49;2.9	4.99	2.96	0.34315	.	1.317840	0.05603	N	0.576684	T	0.09730	0.0239	N	0.22421	0.69	0.25690	N	0.985697	D;D;D	0.64830	0.994;0.994;0.989	P;P;B	0.50617	0.646;0.646;0.443	T	0.12502	-1.0545	10	0.66056	D	0.02	-0.0728	5.3201	0.15876	0.1091:0.0:0.5537:0.3371	.	377;377;377	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	C	377;134;377;377	ENSP00000334308:R377C;ENSP00000452154:R134C;ENSP00000450562:R377C;ENSP00000450774:R377C	ENSP00000334308:R377C	R	-	1	0	C14orf49	94991475	0.999000	0.42202	0.468000	0.27192	0.258000	0.26162	3.690000	0.54713	1.110000	0.41699	0.455000	0.32223	CGC	G|0.988;A|0.012	0.012	strong		0.647	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95921722	G	A	95921722	3	1	22	1	0	0	0	0	1	0	0	0	1776	1145	40	1	1850	1	C14orf49	14	95921722	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15699	95921722	11427818	7487	12595										
C14orf49	161176	hgsc.bcm.edu	37	chr14	95923644	95923644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggtactcctcatgctccCgggccacctgctccagcaga	9	18	1	1	rs74082143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:95923644C>T	ENST00000334258.5	-	4	673	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	SYNE3_ENST00000554873.1_5'Flank|SYNE3_ENST00000557275.1_Missense_Mutation_p.R220Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.R220Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	220					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTCATGCTCCCGGGCCACCTG	0.622													C|||	57	0.0113818	0.0416	0.0029	5008	,	,		15755	0.0		0.0	False		,,,				2504	0.0				p.R220Q		Atlas-SNP	.											.	SYNE3	130	.	0			c.G659A						PASS	.	C	GLN/ARG	164,4242	110.8+/-149.0	4,156,2043	172	146	155		659	-9.7	0.2	14	dbSNP_130	155	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C14orf49	NM_152592.3	43	4,157,6342	TT,TC,CC		0.0116,3.7222,1.2686	benign	220/976	95923644	165,12841	2203	4300	6503	SO:0001583	missense	161176	exon4			TGCTCCCGGGCCA	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.659G>A	14.37:g.95923644C>T	ENSP00000334308:p.Arg220Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	86	38	0.44186	NM_152592	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	C	8.880	0.951469	0.18431	0.037222	1.16E-4	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.08634	3.67;3.67;3.07	5.59	-9.72	0.00515	.	1.176260	0.06544	N	0.743757	T	0.00784	0.0026	N	0.12471	0.22	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46428	-0.9192	10	0.16420	T	0.52	-9.6805	10.7358	0.46124	0.0756:0.1571:0.0:0.7673	.	220;220;220	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Q	220	ENSP00000334308:R220Q;ENSP00000450562:R220Q;ENSP00000450774:R220Q	ENSP00000334308:R220Q	R	-	2	0	C14orf49	94993397	0.009000	0.17119	0.165000	0.22776	0.027000	0.11550	0.063000	0.14410	-1.210000	0.02627	-0.263000	0.10527	CGG	C|0.989;T|0.011	0.011	strong		0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		T	95923644	C	T	95923644	3	4	22	1	0	0	0	0	1	0	0	0	1776	652	23	1	2324	1	C14orf49	14	95923644	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1922	95923644	11425896	7488	12596										
ATG2B	55102	hgsc.bcm.edu	37	chr14	96790337	96790338	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttcctggaacgatcctINSaaaaaaaaagactgatttac					rs74857333|rs34296665|rs397948209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:96790337_96790338insA	ENST00000359933.4	-	16	3331		c.e16-2		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGAACGATCCTAAAAAAAAAGA	0.386													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	1785	0.35643	0.4902	0.2291	5008	,	,		17409	0.3472		0.3002	False		,,,				2504	0.3333				.		Pindel	.											.	ATG2B	169	.	0			c.2438-2->T						PASS	.			1613,1945		375,863,541						5.3	1		dbSNP_126	66	2130,5696		281,1568,2064	no	splice-3	ATG2B	NM_018036.5		656,2431,2605	A1A1,A1R,RR		27.217,45.3345,32.8795				3743,7641				SO:0001630	splice_region_variant	55102	exon17			.	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2438-2->T	14.37:g.96790346_96790346dupA		Somatic	24	.	.		WXS	Illumina HiSeq	Phase_I	28	17	0.607	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	INS	ENST00000359933.4	37	CCDS9944.2																																																																																			-|0.648;A|0.352	0.352	strong		0.386	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	A	96790338	-	A	96790337	8	5	22	1	0	1	1	0	0	0	1	0	1094	1536	53	0	3908	0	ATG2B	14	96790337	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	866693	96790337	10559203	7489	12597										
SETD3	84193	hgsc.bcm.edu	37	chr14	99927594	99927594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttaaccatttcaaaaccctCgacagaagccccattttcag	5	13	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:99927594C>T	ENST00000331768.5	-	4	439	c.280G>A	c.(280-282)Gag>Aag	p.E94K	SETD3_ENST00000329331.3_Missense_Mutation_p.E94K|SETD3_ENST00000453938.1_Intron|SETD3_ENST00000436070.2_Missense_Mutation_p.E94K	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCAAAACCCTCGACAGAAGCC	0.388																																					p.E94K		Atlas-SNP	.											SETD3,colon,carcinoma,+2,1	SETD3	56	1	0			c.G280A						scavenged	.						106	110	108					14																	99927594		2203	4300	6503	SO:0001583	missense	84193	exon4			AACCCTCGACAGA	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.280G>A	14.37:g.99927594C>T	ENSP00000327436:p.Glu94Lys	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	166	4	0.0240964	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837613	0.71373	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.14266	2.52;2.52;2.52	5.45	4.57	0.56435	.	0.313213	0.35013	N	0.003506	T	0.08313	0.0207	L	0.41824	1.3	0.58432	D	0.999998	P;P;P	0.42649	0.633;0.786;0.564	B;B;B	0.25884	0.029;0.064;0.054	T	0.16867	-1.0388	10	0.08179	T	0.78	-19.4543	14.3822	0.66919	0.0:0.929:0.0:0.071	.	94;94;94	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	K	94	ENSP00000327436:E94K;ENSP00000327910:E94K;ENSP00000408602:E94K	ENSP00000327910:E94K	E	-	1	0	SETD3	98997347	1.000000	0.71417	0.961000	0.40146	0.999000	0.98932	7.744000	0.85034	1.441000	0.47550	0.655000	0.94253	GAG	.	.	none		0.388	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		T	99927594	C	T	99927594	3	4	22	1	0	0	0	0	1	0	0	0	14132	893	31	1	1590	1	SETD3	14	99927594	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3137257	99927594	7421946	7490	12598										
EML1	2009	hgsc.bcm.edu	37	chr14	100331876	100331876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactgatgcagaccctgccTttaagaaccacggtcaacaa	7	14	1	3	rs11160553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:100331876T>C	ENST00000262233.6	+	3	415	c.276T>C	c.(274-276)ccT>ccC	p.P92P	EML1_ENST00000327921.9_Silent_p.P61P|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Silent_p.P92P	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	92					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGACCCTGCCTTTAAGAACCA	0.478													T|||	917	0.183107	0.143	0.196	5008	,	,		20476	0.1369		0.3082	False		,,,				2504	0.1472				p.P92P		Atlas-SNP	.											.	EML1	97	.	0			c.T276C						PASS	.	T	,	871,3535	338.1+/-305.1	78,715,1410	97	89	91		276,276	2.9	1	14	dbSNP_120	91	2692,5908	428.1+/-355.8	435,1822,2043	no	coding-synonymous,coding-synonymous	EML1	NM_001008707.1,NM_004434.2	,	513,2537,3453	CC,CT,TT		31.3023,19.7685,27.395	,	92/835,92/816	100331876	3563,9443	2203	4300	6503	SO:0001819	synonymous_variant	2009	exon3			CCTGCCTTTAAGA	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.276T>C	14.37:g.100331876T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	104	51	0.490385	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	CCDS32155.1																																																																																			T|0.760;C|0.240	0.240	strong		0.478	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		C	100331876	T	C	100331876	2	2	22	1	0	0	0	0	0	0	0	1	5096	1596	56	3		3	EML1	14	100331876	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	404282	100331876	7017664	7491	12599										
EVL	51466	hgsc.bcm.edu	37	chr14	100563868	100563868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagtacaatcaggccacGccaaccttccaccagtggcg	9	15	1	1	rs35006525	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:100563868G>A	ENST00000402714.2	+	3	829	c.225G>A	c.(223-225)acG>acA	p.T75T	EVL_ENST00000392920.3_Silent_p.T77T|EVL_ENST00000555048.1_3'UTR|EVL_ENST00000544450.2_Silent_p.T81T			Q9UI08	EVL_HUMAN	Enah/Vasp-like	75	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATCAGGCCACGCCAACCTTCC	0.458													G|||	74	0.0147764	0.0545	0.0029	5008	,	,		21124	0.0		0.0	False		,,,				2504	0.0				p.T77T		Atlas-SNP	.											.	EVL	42	.	0			c.G231A						PASS	.	G		217,4189	131.0+/-167.6	6,205,1992	89	81	84		231	-9	0.8	14	dbSNP_126	84	0,8600		0,0,4300	no	coding-synonymous	EVL	NM_016337.2		6,205,6292	AA,AG,GG		0.0,4.9251,1.6685		77/419	100563868	217,12789	2203	4300	6503	SO:0001819	synonymous_variant	51466	exon3			GGCCACGCCAACC	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.225G>A	14.37:g.100563868G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	93	51	0.548387	NM_016337	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Silent	SNP	ENST00000402714.2	37																																																																																				G|0.986;A|0.014	0.014	strong		0.458	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			A	100563868	G	A	100563868	2	1	22	1	0	0	0	0	0	0	0	1	5291	1074	38	1		1	EVL	14	100563868	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	231992	100563868	6785672	7492	12600										
DEGS2	123099	hgsc.bcm.edu	37	chr14	100615707	100615707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacgcgtgggcacgtccacGtccagcccgtcgccgcccag	13	18	0	1	rs113575369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:100615707G>A	ENST00000305631.5	-	2	998	c.423C>T	c.(421-423)gaC>gaT	p.D141D	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACGTCCACGTCCAGCCCGT	0.672													G|||	60	0.0119808	0.0431	0.0043	5008	,	,		16559	0.0		0.0	False		,,,				2504	0.0				p.D141D		Atlas-SNP	.											.	DEGS2	25	.	0			c.C423T						PASS	.	G		130,4272	88.7+/-127.4	1,128,2072	29	28	29		423	-1	1	14	dbSNP_132	29	1,8595		0,1,4297	no	coding-synonymous	DEGS2	NM_206918.2		1,129,6369	AA,AG,GG		0.0116,2.9532,1.0078		141/324	100615707	131,12867	2201	4298	6499	SO:0001819	synonymous_variant	123099	exon2			GTCCACGTCCAGC		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.423C>T	14.37:g.100615707G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	119	67	0.563025	NM_206918		Silent	SNP	ENST00000305631.5	37	CCDS9956.1																																																																																			G|0.991;A|0.009	0.009	strong		0.672	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		A	100615707	G	A	100615707	2	1	22	1	0	0	0	0	0	0	0	1	4423	1136	40	1		1	DEGS2	14	100615707	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51839	100615707	6733833	7493	12601										
WDR25	79446	hgsc.bcm.edu	37	chr14	100996312	100996312	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgtgtcggcaccacctaTcaccccgtgctgccctccgt	9	19	1	0	rs13065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:100996312T>C	ENST00000335290.6	+	7	1795	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	WDR25_ENST00000542471.2_Silent_p.Y266Y|WDR25_ENST00000402312.3_Silent_p.Y523Y|WDR25_ENST00000554998.1_Silent_p.Y523Y|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	523										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCACCACCTATCACCCCGTGC	0.642													C|||	3212	0.641374	0.9705	0.611	5008	,	,		19149	0.6974		0.4155	False		,,,				2504	0.3926				p.Y523Y		Atlas-SNP	.											WDR25,NS,carcinoma,0,1	WDR25	37	1	0			c.T1569C						PASS	.	C	,	3873,533	242.1+/-252.3	1710,453,40	82	75	77		1569,1569	0.8	1	14	dbSNP_52	77	3368,5232	640.7+/-399.6	670,2028,1602	no	coding-synonymous,coding-synonymous	WDR25	NM_001161476.1,NM_024515.4	,	2380,2481,1642	CC,CT,TT		39.1628,12.0971,44.3257	,	523/545,523/545	100996312	7241,5765	2203	4300	6503	SO:0001819	synonymous_variant	79446	exon7			CACCTATCACCCC	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1569T>C	14.37:g.100996312T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	CCDS32157.1																																																																																			T|0.409;C|0.591	0.591	strong		0.642	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		C	100996312	T	C	100996312	2	2	22	1	0	0	0	0	0	0	0	1	17279	1442	50	2		2	WDR25	14	100996312	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	380605	100996312	6353228	7494	12602										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101004432	101004432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggatgcatttccggggaGgcctccatggagctcggctc	15	12	0	0	rs7493484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101004432G>A	ENST00000355173.2	-	7	1727	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.A488A|BEGAIN_ENST00000443071.2_Silent_p.A552A	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	552						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TTTCCGGGGAGGCCTCCATGG	0.711													G|||	335	0.066893	0.2057	0.0144	5008	,	,		11513	0.0417		0.002	False		,,,				2504	0.0092				p.A552A	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.C1656T						PASS	.	G	,	723,3651		49,625,1513	11	13	12		1656,1656	-1.3	1	14	dbSNP_116	12	22,8540		0,22,4259	no	coding-synonymous,coding-synonymous	BEGAIN	NM_001159531.1,NM_020836.3	,	49,647,5772	AA,AG,GG		0.2569,16.5295,5.7591	,	552/594,552/594	101004432	745,12191	2187	4281	6468	SO:0001819	synonymous_variant	57596	exon7			CGGGGAGGCCTCC	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1656C>T	14.37:g.101004432G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_020836	Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	CCDS9962.1																																																																																			G|0.933;A|0.067	0.067	strong		0.711	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		A	101004432	G	A	101004432	2	1	22	1	0	0	0	0	0	0	0	1	1397	987	35	2		2	BEGAIN	14	101004432	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8120	101004432	6345108	7495	12603										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101005215	101005215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggacgtgggcagtgagccTgcgtagctggggaaggcctc	18	10	0	1	rs12893951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101005215T>C	ENST00000355173.2	-	7	944	c.873A>G	c.(871-873)gcA>gcG	p.A291A	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.A227A|BEGAIN_ENST00000443071.2_Silent_p.A291A	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	291						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCAGTGAGCCTGCGTAGCTGG	0.706													C|||	3260	0.650958	0.969	0.6254	5008	,	,		13674	0.7093		0.4274	False		,,,				2504	0.409				p.A291A	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.A873G						PASS	.	C	,	3873,527		1715,443,42	23	26	25		873,873	1.5	0.9	14	dbSNP_121	25	3508,5090		752,2004,1543	no	coding-synonymous,coding-synonymous	BEGAIN	NM_001159531.1,NM_020836.3	,	2467,2447,1585	CC,CT,TT		40.8002,11.9773,43.2143	,	291/594,291/594	101005215	7381,5617	2200	4299	6499	SO:0001819	synonymous_variant	57596	exon7			TGAGCCTGCGTAG	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.873A>G	14.37:g.101005215T>C		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	22	20	0.909091	NM_020836	Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	CCDS9962.1																																																																																			T|0.388;C|0.612	0.612	strong		0.706	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		C	101005215	T	C	101005215	2	2	22	1	0	0	0	0	0	0	0	1	1397	1567	55	3		3	BEGAIN	14	101005215	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	783	101005215	6344325	7496	12604										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101005236	101005236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgtagctggggaaggcctcAtgctggaagcccgccgggaa	17	11	1	0	rs12892571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101005236A>G	ENST00000355173.2	-	7	923	c.852T>C	c.(850-852)caT>caC	p.H284H	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.H220H|BEGAIN_ENST00000443071.2_Silent_p.H284H	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	284						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGAAGGCCTCATGCTGGAAGC	0.701													G|||	3226	0.644169	0.9697	0.621	5008	,	,		12984	0.7054		0.4115	False		,,,				2504	0.3967				p.H284H	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.T852C						PASS	.	G	,	3855,541		1702,451,45	18	23	21		852,852	2.5	0.6	14	dbSNP_121	21	3359,5239		679,2001,1619	no	coding-synonymous,coding-synonymous	BEGAIN	NM_001159531.1,NM_020836.3	,	2381,2452,1664	GG,GA,AA		39.0672,12.3066,44.4821	,	284/594,284/594	101005236	7214,5780	2198	4299	6497	SO:0001819	synonymous_variant	57596	exon7			GGCCTCATGCTGG	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.852T>C	14.37:g.101005236A>G		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	18	18	1	NM_020836	Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	CCDS9962.1																																																																																			A|0.415;G|0.585	0.585	strong		0.701	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		G	101005236	A	G	101005236	2	3	22	1	0	0	0	0	0	0	0	1	1397	214	8	2		2	BEGAIN	14	101005236	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21	101005236	6344304	7497	12605										
BEGAIN	57596	hgsc.bcm.edu	37	chr14	101010204	101010204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcactcacgttgtcctcTgacagcttgtcgatggtcac	11	13	3	1	rs4073549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101010204T>C	ENST00000355173.2	-	5	413	c.342A>G	c.(340-342)tcA>tcG	p.S114S	BEGAIN_ENST00000556751.1_Silent_p.S50S|BEGAIN_ENST00000554747.1_5'Flank|BEGAIN_ENST00000443071.2_Silent_p.S114S	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	114						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGTTGTCCTCTGACAGCTTGT	0.587													.|||	434	0.0866613	0.261	0.0216	5008	,	,		21801	0.0655		0.0	False		,,,				2504	0.0082				p.S114S	NSCLC(159;1889 2010 9965 27479 40101)	Atlas-SNP	.											.	BEGAIN	32	.	0			c.A342G						PASS	.		,	983,3423	726.9+/-409.8	131,721,1351	154	85	108		342,342	-5.2	0.9	14	dbSNP_108	108	12,8588	815.8+/-407.0	0,12,4288	no	coding-synonymous,coding-synonymous	BEGAIN	NM_001159531.1,NM_020836.3	,	131,733,5639	CC,CT,TT		0.1395,22.3105,7.6503	,	114/594,114/594	101010204	995,12011	2203	4300	6503	SO:0001819	synonymous_variant	57596	exon5			GTCCTCTGACAGC	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.342A>G	14.37:g.101010204T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	86	42	0.488372	NM_020836	Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	CCDS9962.1																																																																																			T|0.915;C|0.085	0.085	strong		0.587	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		C	101010204	T	C	101010204	2	2	22	1	0	0	0	0	0	0	0	1	1397	1567	55	3		3	BEGAIN	14	101010204	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4968	101010204	6339336	7498	12606										
DLK1	8788	hgsc.bcm.edu	37	chr14	101200514	101200514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagcacggaggcacctgcGtggatgatgagggccgggcc	18	12	0	2	rs116078181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101200514G>T	ENST00000341267.4	+	5	675	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L	DLK1_ENST00000331224.6_Missense_Mutation_p.V145L	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	145	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCACCTGCGTGGATGATGA	0.652													G|||	93	0.0185703	0.0696	0.0014	5008	,	,		12961	0.0		0.0	False		,,,				2504	0.0				p.V145L		Atlas-SNP	.											.	DLK1	57	.	0			c.G433T						PASS	.	G	LEU/VAL	197,4207		7,183,2012	45	43	44		433	3.2	1	14	dbSNP_132	44	0,8598		0,0,4299	yes	missense	DLK1	NM_003836.5	32	7,183,6311	TT,TG,GG		0.0,4.4732,1.5152	possibly-damaging	145/384	101200514	197,12805	2202	4299	6501	SO:0001583	missense	8788	exon5			ACCTGCGTGGATG	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.433G>T	14.37:g.101200514G>T	ENSP00000340292:p.Val145Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	89	54	0.606742	NM_003836	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	37	0.01694139194139194	37	0.07520325203252033	0	0.0	0	0.0	0	0.0	G	15.51	2.856381	0.51376	0.044732	0.0	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.71817	-0.6;-0.6	4.1	3.18	0.36537	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.432951	0.20458	N	0.091958	T	0.10981	0.0268	L	0.28776	0.89	0.80722	D	1	D;P	0.67145	0.996;0.926	D;P	0.64595	0.927;0.542	T	0.37820	-0.9689	10	0.30854	T	0.27	.	5.9295	0.19130	0.2969:0.0:0.7031:0.0	.	145;145	P80370-2;P80370	.;DLK1_HUMAN	L	145	ENSP00000340292:V145L;ENSP00000331081:V145L	ENSP00000331081:V145L	V	+	1	0	DLK1	100270267	0.812000	0.29077	0.997000	0.53966	0.813000	0.45954	1.136000	0.31467	1.981000	0.57761	0.491000	0.48974	GTG	G|0.981;T|0.019	0.019	strong		0.652	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101200514	G	T	101200514	3	4	22	1	0	0	0	0	1	0	0	0	4564	1145	40	4	451	4	DLK1	14	101200514	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190310	101200514	6149026	7499	12607										
DLK1	8788	hgsc.bcm.edu	37	chr14	101200780	101200780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaggtgagctacgagtgTctgtgcaagcccgagttcac	12	12	2	1	rs2295660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101200780T>C	ENST00000341267.4	+	5	941	c.699T>C	c.(697-699)tgT>tgC	p.C233C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	233	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCTACGAGTGTCTGTGCAAGC	0.662													T|||	107	0.0213658	0.0371	0.0058	5008	,	,		15534	0.0506		0.003	False		,,,				2504	0.0				p.C233C		Atlas-SNP	.											.	DLK1	57	.	0			c.T699C						PASS	.	T		104,4300		1,102,2099	38	44	42		699	3.1	1	14	dbSNP_100	42	8,8590		0,8,4291	no	coding-synonymous	DLK1	NM_003836.5		1,110,6390	CC,CT,TT		0.093,2.3615,0.8614		233/384	101200780	112,12890	2202	4299	6501	SO:0001819	synonymous_variant	8788	exon5			CGAGTGTCTGTGC	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.699T>C	14.37:g.101200780T>C		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	46	15	0.326087	NM_003836	P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	CCDS9963.1																																																																																			T|0.981;C|0.019	0.019	strong		0.662	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			C	101200780	T	C	101200780	2	2	22	1	0	0	0	0	0	0	0	1	4564	1673	58	2		2	DLK1	14	101200780	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	266	101200780	6148760	7500	12608										
DLK1	8788	hgsc.bcm.edu	37	chr14	101201206	101201206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgacatgaccaccttcagCaaggaggccggcgacgagga	13	12	1	1	rs139584149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101201206C>T	ENST00000341267.4	+	5	1367	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	DLK1_ENST00000331224.6_Silent_p.S302S|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	375					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCACCTTCAGCAAGGAGGCCG	0.552													C|||	50	0.00998403	0.0371	0.0	5008	,	,		16616	0.0		0.001	False		,,,				2504	0.0				p.S375S		Atlas-SNP	.											.	DLK1	57	.	0			c.C1125T						PASS	.	C		105,4301	82.4+/-120.9	1,103,2099	92	92	92		1125	3.5	0.9	14	dbSNP_134	92	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DLK1	NM_003836.5		1,107,6395	TT,TC,CC		0.0465,2.3831,0.8381		375/384	101201206	109,12897	2203	4300	6503	SO:0001819	synonymous_variant	8788	exon5			CTTCAGCAAGGAG	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1125C>T	14.37:g.101201206C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	26	16	0.615385	NM_003836	P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	CCDS9963.1																																																																																			C|0.991;T|0.009	0.009	strong		0.552	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101201206	C	T	101201206	2	4	22	1	0	0	0	0	0	0	0	1	4564	709	25	2		2	DLK1	14	101201206	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	426	101201206	6148334	7501	12609										
DLK1	8788	hgsc.bcm.edu	37	chr14	101201219	101201219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcagcaaggaggccggcGacgaggagatctaagcagcg	15	11	2	1	rs115349979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101201219G>C	ENST00000341267.4	+	5	1380	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	DLK1_ENST00000331224.6_Missense_Mutation_p.D307H|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGAGGCCGGCGACGAGGAGAT	0.552													G|||	62	0.0123802	0.0469	0.0	5008	,	,		16011	0.0		0.0	False		,,,				2504	0.0				p.D380H		Atlas-SNP	.											DLK1,NS,carcinoma,-2,2	DLK1	57	2	0			c.G1138C						PASS	.	G	HIS/ASP	130,4276	94.8+/-133.5	3,124,2076	85	86	86		1138	0.9	0.2	14	dbSNP_132	86	0,8600		0,0,4300	yes	missense	DLK1	NM_003836.5	81	3,124,6376	CC,CG,GG		0.0,2.9505,0.9995	benign	380/384	101201219	130,12876	2203	4300	6503	SO:0001583	missense	8788	exon5			GCCGGCGACGAGG	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1138G>C	14.37:g.101201219G>C	ENSP00000340292:p.Asp380His	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	20	10	0.5	NM_003836	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	G	9.764	1.170865	0.21621	0.029505	0.0	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.88431	-2.38;-2.32	4.41	0.928	0.19443	.	1.200000	0.06159	N	0.675641	T	0.57844	0.2081	N	0.08118	0	0.09310	N	1	P;P	0.46220	0.874;0.8	P;P	0.54460	0.753;0.571	T	0.69351	-0.5168	10	0.87932	D	0	.	0.6745	0.00864	0.2119:0.1565:0.3728:0.2589	.	307;380	P80370-2;P80370	.;DLK1_HUMAN	H	380;307	ENSP00000340292:D380H;ENSP00000331081:D307H	ENSP00000331081:D307H	D	+	1	0	DLK1	100270972	0.002000	0.14202	0.191000	0.23289	0.049000	0.14656	0.031000	0.13710	0.860000	0.35481	-0.332000	0.08345	GAC	G|0.988;C|0.012	0.012	strong		0.552	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			C	101201219	G	C	101201219	3	2	22	1	0	0	0	0	1	0	0	0	4564	1058	37	4	1156	4	DLK1	14	101201219	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13	101201219	6148321	7502	12610										
RTL1	388015	hgsc.bcm.edu	37	chr14	101347090	101347090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctcatcaggcagctcttCtagccttgcctgctccctgg	9	16	4	0	rs73349352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:101347090C>T	ENST00000534062.1	-	1	4094	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1346					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCAGCTCTTCTAGCCTTGCC	0.627													C|||	213	0.0425319	0.1536	0.0144	5008	,	,		14165	0.0		0.0	False		,,,				2504	0.0				p.E1346K		Atlas-SNP	.											.	RTL1	120	.	0			c.G4036A						PASS	.						32	32	32					14																	101347090		692	1591	2283	SO:0001583	missense	388015	exon1			GCTCTTCTAGCCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.4036G>A	14.37:g.101347090C>T	ENSP00000435342:p.Glu1346Lys	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	173	86	0.49711	NM_001134888	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	73	0.033424908424908424	70	0.14227642276422764	3	0.008287292817679558	0	0.0	0	0.0	C	12.39	1.924506	0.34002	.	.	ENSG00000254656	ENST00000534062	T	0.28255	1.62	3.29	0.236	0.15471	.	.	.	.	.	T	0.00144	0.0004	N	0.24115	0.695	0.80722	P	0.0	B	0.34103	0.437	B	0.24541	0.054	T	0.09552	-1.0669	8	0.87932	D	0	.	10.9898	0.47543	0.0:0.4239:0.5761:0.0	.	1346	E9PKS8	.	K	1346	ENSP00000435342:E1346K	ENSP00000435342:E1346K	E	-	1	0	RTL1	100416843	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.458000	0.06737	0.044000	0.15775	-0.222000	0.12452	GAA	C|0.966;T|0.034	0.034	strong		0.627	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101347090	C	T	101347090	3	4	22	1	0	0	0	0	1	0	0	0	13724	922	32	2	44	2	RTL1	14	101347090	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	145871	101347090	6002450	7503	12611										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102463407	102463407	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgcttactggaaaagcaAaggttccagttcccaccttc	8	13	0	0	rs12893215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102463407A>G	ENST00000360184.4	+	16	3764	c.3600A>G	c.(3598-3600)caA>caG	p.Q1200Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1200	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Q1200Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAAAAGCAAAGGTTCCAGT	0.413													A|||	1010	0.201677	0.2685	0.1585	5008	,	,		20106	0.251		0.0905	False		,,,				2504	0.2055				p.Q1200Q		Atlas-SNP	.											DYNC1H1,NS,carcinoma,0,1	DYNC1H1	395	1	1	Substitution - coding silent(1)	stomach(1)	c.A3600G						PASS	.	A		1059,3347	380.6+/-323.8	133,793,1277	49	50	49		3600	1.4	1	14	dbSNP_121	49	958,7642	208.3+/-249.8	59,840,3401	no	coding-synonymous	DYNC1H1	NM_001376.4		192,1633,4678	GG,GA,AA		11.1395,24.0354,15.5082		1200/4647	102463407	2017,10989	2203	4300	6503	SO:0001819	synonymous_variant	1778	exon16			AAAGCAAAGGTTC	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3600A>G	14.37:g.102463407A>G		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	195	110	0.564103	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			A|0.836;G|0.164	0.164	strong		0.413	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102463407	A	G	102463407	2	3	22	1	0	0	0	0	0	0	0	1	4841	11	1	2		2	DYNC1H1	14	102463407	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1116317	102463407	4886133	7504	12612										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102466430	102466430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcaaaggccaaggaggcGctggaattgacagatactgg	15	7	0	2	rs34690489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102466430G>A	ENST00000360184.4	+	17	4073	c.3909G>A	c.(3907-3909)gcG>gcA	p.A1303A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1303	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAAGGAGGCGCTGGAATTGA	0.567													g|||	57	0.0113818	0.028	0.0159	5008	,	,		19910	0.0		0.008	False		,,,				2504	0.001				p.A1303A		Atlas-SNP	.											DYNC1H1,colon,carcinoma,+1,1	DYNC1H1	395	1	0			c.G3909A						PASS	.			111,4295	85.3+/-124.0	3,105,2095	104	93	97		3909	-10.9	0.5	14	dbSNP_126	97	97,8503	53.1+/-113.8	2,93,4205	no	coding-synonymous	DYNC1H1	NM_001376.4		5,198,6300	AA,AG,GG		1.1279,2.5193,1.5993		1303/4647	102466430	208,12798	2203	4300	6503	SO:0001819	synonymous_variant	1778	exon17			GGAGGCGCTGGAA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3909G>A	14.37:g.102466430G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			G|0.984;A|0.016	0.016	strong		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102466430	G	A	102466430	2	1	22	1	0	0	0	0	0	0	0	1	4841	1074	38	1		1	DYNC1H1	14	102466430	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3023	102466430	4883110	7505	12613										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102469273	102469273	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaagcattgggagaataTctggaaagagagcggtcatc	13	6	2	3	rs75094258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102469273T>C	ENST00000360184.4	+	23	5018	c.4854T>C	c.(4852-4854)taT>taC	p.Y1618Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1618	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGGAGAATATCTGGAAAGAG	0.458													T|||	27	0.00539137	0.0197	0.0014	5008	,	,		19492	0.0		0.0	False		,,,				2504	0.0				p.Y1618Y		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.T4854C						PASS	.	T		53,4353	52.9+/-88.7	1,51,2151	70	69	70		4854	4.5	1	14	dbSNP_132	70	0,8600		0,0,4300	no	coding-synonymous	DYNC1H1	NM_001376.4		1,51,6451	CC,CT,TT		0.0,1.2029,0.4075		1618/4647	102469273	53,12953	2203	4300	6503	SO:0001819	synonymous_variant	1778	exon23			AGAATATCTGGAA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4854T>C	14.37:g.102469273T>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	79	32	0.405063	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			T|0.994;C|0.006	0.006	strong		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102469273	T	C	102469273	2	2	22	1	0	0	0	0	0	0	0	1	4841	1442	50	2		2	DYNC1H1	14	102469273	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2843	102469273	4880267	7506	12614										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102493761	102493761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagactttgatgaagatctAcggacagtgttgagacgttc	12	6	1	5	rs8010870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102493761A>G	ENST00000360184.4	+	46	9092	c.8928A>G	c.(8926-8928)ctA>ctG	p.L2976L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2976	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGAAGATCTACGGACAGTGT	0.418													A|||	975	0.194688	0.2504	0.1484	5008	,	,		23531	0.248		0.0895	False		,,,				2504	0.2055				p.L2976L		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.A8928G						PASS	.	A		976,3430	366.4+/-317.8	117,742,1344	118	111	113		8928	-12.1	0	14	dbSNP_116	113	942,7658	206.9+/-248.8	54,834,3412	no	coding-synonymous	DYNC1H1	NM_001376.4		171,1576,4756	GG,GA,AA		10.9535,22.1516,14.747		2976/4647	102493761	1918,11088	2203	4300	6503	SO:0001819	synonymous_variant	1778	exon46			AGATCTACGGACA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8928A>G	14.37:g.102493761A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			A|0.835;G|0.165;T|0.000	0.165	strong		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102493761	A	G	102493761	2	3	22	1	0	0	0	0	0	0	0	1	4841	378	14	2		2	DYNC1H1	14	102493761	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24488	102493761	4855779	7507	12615										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102514227	102514227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctggcctacgcagagacTgagaagaagacgaggacaga	14	9	0	5	rs13749	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102514227T>C	ENST00000360184.4	+	73	13244	c.13080T>C	c.(13078-13080)acT>acC	p.T4360T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4360					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T4360T(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGCAGAGACTGAGAAGAAGA	0.597													C|||	1739	0.347244	0.6505	0.2392	5008	,	,		15280	0.2897		0.1421	False		,,,				2504	0.2843				p.T4360T		Atlas-SNP	.											DYNC1H1,NS,carcinoma,0,1	DYNC1H1	395	1	1	Substitution - coding silent(1)	stomach(1)	c.T13080C						scavenged	.	C		2522,1884	542.8+/-376.1	727,1068,408	160	107	125		13080	-8.9	0.5	14	dbSNP_52	125	1427,7173	752.5+/-407.4	137,1153,3010	no	coding-synonymous	DYNC1H1	NM_001376.4		864,2221,3418	CC,CT,TT		16.593,42.7599,30.3629		4360/4647	102514227	3949,9057	2203	4300	6503	SO:0001819	synonymous_variant	1778	exon73			AGAGACTGAGAAG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13080T>C	14.37:g.102514227T>C		Somatic	60	1	0.0166667		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			T|0.681;C|0.319	0.319	strong		0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102514227	T	C	102514227	2	2	22	1	0	0	0	0	0	0	0	1	4841	1567	55	3		3	DYNC1H1	14	102514227	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20466	102514227	4835313	7508	12616										
RAGE	5891	hgsc.bcm.edu	37	chr14	102700028	102700028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaacacaatacttactgtTtgaacttggtgaggatcttc	8	8	1	3	rs34965156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102700028T>C	ENST00000361847.2	-	8	920	c.689A>G	c.(688-690)aAa>aGa	p.K230R	MOK_ENST00000523231.1_5'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.K229R|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000561150.1_5'UTR|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.K200R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> R (in dbSNP:rs34965156). {ECO:0000269|PubMed:17344846}.		protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TACTTACTGTTTGAACTTGGT	0.532													T|||	258	0.0515176	0.1876	0.0115	5008	,	,		19334	0.0		0.002	False		,,,				2504	0.0				p.K230R		Atlas-SNP	.											.	.	.	.	0			c.A689G						PASS	.	T	ARG/LYS	689,3717		61,567,1575	189	147	161		689	5.2	1	14	dbSNP_126	161	17,8583		0,17,4283	yes	missense	MOK	NM_014226.1	26	61,584,5858	CC,CT,TT		0.1977,15.6378,5.4283	benign	230/420	102700028	706,12300	2203	4300	6503	SO:0001583	missense	5891	exon8			TACTGTTTGAACT	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.689A>G	14.37:g.102700028T>C	ENSP00000355304:p.Lys230Arg	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	225	113	0.502222	NM_014226	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	99	0.04532967032967033	92	0.18699186991869918	5	0.013812154696132596	0	0.0	2	0.002638522427440633	.	14.82	2.649258	0.47362	0.156378	0.001977	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.64803	-0.12;-0.12;-0.12	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054522	0.64402	D	0.000001	T	0.00073	0.0002	N	0.11313	0.125	0.09310	P	1.0	B;B	0.21225	0.021;0.053	B;B	0.26517	0.044;0.07	T	0.04752	-1.0929	9	0.46703	T	0.11	-1.1389	15.0926	0.72207	0.0:0.0:0.0:1.0	rs34965156	200;230	E7ERR8;Q9UQ07	.;MOK_HUMAN	R	229;230;200	ENSP00000429469:K229R;ENSP00000355304:K230R;ENSP00000428942:K200R	ENSP00000355304:K230R	K	-	2	0	RAGE	101769781	1.000000	0.71417	0.985000	0.45067	0.870000	0.49936	4.211000	0.58507	1.978000	0.57642	0.482000	0.46254	AAA	T|0.940;C|0.060	0.060	strong		0.532	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			C	102700028	T	C	102700028	3	2	22	1	0	0	0	0	1	0	0	0	13006	1841	64	2	590	2	RAGE	14	102700028	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	185801	102700028	4649512	7509	12617										
ZNF839	55778	hgsc.bcm.edu	37	chr14	102807671	102807671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtttaggtttttcccctCcagtaaatgtgactgtctct	7	9	1	1	rs9464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102807671C>T	ENST00000558850.1	+	8	1941	c.1591C>T	c.(1591-1593)Cca>Tca	p.P531S	ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000262236.5_Missense_Mutation_p.P533S|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Missense_Mutation_p.P531S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P647S	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	531			P -> S (in dbSNP:rs9464).				metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTTTCCCCTCCAGTAAATGT	0.537													C|||	368	0.0734824	0.1906	0.0403	5008	,	,		18164	0.001		0.0616	False		,,,				2504	0.0256				p.P647S		Atlas-SNP	.											.	ZNF839	41	.	0			c.C1939T						PASS	.	C	SER/PRO	667,3377		54,559,1409	133	132	132		1939	1.5	0	14	dbSNP_52	132	465,7903		15,435,3734	yes	missense	ZNF839	NM_018335.3	74	69,994,5143	TT,TC,CC		5.5569,16.4936,9.1202	benign	647/928	102807671	1132,11280	2022	4184	6206	SO:0001583	missense	55778	exon8			TCCCCTCCAGTAA	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1591C>T	14.37:g.102807671C>T	ENSP00000453363:p.Pro531Ser	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	257	113	0.439689	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	141	0.06456043956043957	83	0.16869918699186992	17	0.04696132596685083	0	0.0	41	0.05408970976253298	C	8.132	0.783314	0.16189	0.164936	0.055569	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.17370	2.28;2.33	4.56	1.54	0.23209	.	1.160120	0.06378	N	0.714782	T	0.00039	0.0001	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33103	0.397;0.187;0.187	B;B;B	0.28991	0.097;0.058;0.058	T	0.38243	-0.9670	10	0.15499	T	0.54	.	13.5885	0.61946	0.0:0.5279:0.4721:0.0	rs9464;rs3209420;rs52826173;rs59898673;rs9464	647;533;531	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	S	647;533;199;65	ENSP00000399863:P647S;ENSP00000262236:P533S	ENSP00000262236:P533S	P	+	1	0	ZNF839	101877424	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.167000	0.16602	0.074000	0.16767	0.514000	0.50259	CCA	T|0.080;G|0.001	0.080	strong		0.537	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102807671	C	T	102807671	3	4	22	1	0	0	0	0	1	0	0	0	18185	855	30	2	1969	2	ZNF839	14	102807671	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107643	102807671	4541869	7510	12618										
ZNF839	55778	hgsc.bcm.edu	37	chr14	102808273	102808273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgggggacttgaaccggttCccctgtgggatggaggtgca	17	9	0	1	rs1053019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102808273C>A	ENST00000558850.1	+	8	2543	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L	ZNF839_ENST00000262236.5_Missense_Mutation_p.F733L|ZNF839_ENST00000559185.1_Missense_Mutation_p.F731L|ZNF839_ENST00000442396.2_Missense_Mutation_p.F847L|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	731			F -> L (in dbSNP:rs1053019).				metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAACCGGTTCCCCTGTGGGA	0.572													C|||	358	0.0714856	0.1838	0.0375	5008	,	,		18344	0.001		0.0636	False		,,,				2504	0.0245				p.F847L		Atlas-SNP	.											.	ZNF839	41	.	0			c.C2541A						PASS	.	C	LEU/PHE	626,3306		51,524,1391	56	59	58		2541	-0.9	0	14	dbSNP_86	58	471,7829		16,439,3695	yes	missense	ZNF839	NM_018335.3	22	67,963,5086	AA,AC,CC		5.6747,15.9207,8.9683	benign	847/928	102808273	1097,11135	1966	4150	6116	SO:0001583	missense	55778	exon8			CCGGTTCCCCTGT	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.2193C>A	14.37:g.102808273C>A	ENSP00000453363:p.Phe731Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	152	73	0.480263	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	143	0.06547619047619048	83	0.16869918699186992	17	0.04696132596685083	0	0.0	43	0.05672823218997362	C	8.347	0.830116	0.16749	0.159207	0.056747	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.17528	2.27;2.27	4.37	-0.902	0.10537	.	1.215490	0.05661	N	0.586973	T	0.00039	0.0001	L	0.38838	1.175	0.80722	P	0.0	B;B;B	0.19817	0.039;0.005;0.005	B;B;B	0.18871	0.023;0.019;0.019	T	0.39272	-0.9622	9	0.25751	T	0.34	.	4.1834	0.10387	0.0:0.3135:0.3266:0.36	rs1053019;rs3193504;rs52808269;rs59353203;rs1053019	847;733;731	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	847;733;399;265	ENSP00000399863:F847L;ENSP00000262236:F733L	ENSP00000262236:F733L	F	+	3	2	ZNF839	101878026	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.095000	0.11077	-0.152000	0.11156	-0.346000	0.07831	TTC	C|0.920;A|0.080	0.080	strong		0.572	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		A	102808273	C	A	102808273	3	1	22	1	0	0	0	0	1	0	0	0	18185	854	30	4	2571	4	ZNF839	14	102808273	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	602	102808273	4541267	7511	12619										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102909991	102909991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcctggcaggtctgagCgtggatcgcccttgtgccag	13	12	2	1	rs17100923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:102909991C>T	ENST00000359520.7	+	12	2986	c.2760C>T	c.(2758-2760)agC>agT	p.S920S	TECPR2_ENST00000558678.1_Silent_p.S920S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	920					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGGTCTGAGCGTGGATCGCC	0.532													C|||	431	0.0860623	0.2383	0.0403	5008	,	,		15922	0.001		0.0616	False		,,,				2504	0.0256				p.S920S		Atlas-SNP	.											.	TECPR2	114	.	0			c.C2760T						PASS	.	C	,	930,3476	351.1+/-311.1	87,756,1360	79	58	65		2760,2760	-10	0.1	14	dbSNP_123	65	505,8095	143.1+/-199.2	17,471,3812	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	104,1227,5172	TT,TC,CC		5.8721,21.1076,11.0334	,	920/1268,920/1412	102909991	1435,11571	2203	4300	6503	SO:0001819	synonymous_variant	9895	exon12			TCTGAGCGTGGAT	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2760C>T	14.37:g.102909991C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																			C|0.899;T|0.101	0.101	strong		0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102909991	C	T	102909991	2	4	22	1	0	0	0	0	0	0	0	1	15741	767	27	1		1	TECPR2	14	102909991	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101718	102909991	4439549	7512	12620										
TRAF3	7187	hgsc.bcm.edu	37	chr14	103336654	103336654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccctgaacaaggaggttAcaaggaaaagtttgtgaaga	12	5	0	3	rs147686384		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103336654A>G	ENST00000560371.1	+	2	333	c.116A>G	c.(115-117)tAc>tGc	p.Y39C	TRAF3_ENST00000392745.2_Missense_Mutation_p.Y39C|TRAF3_ENST00000351691.5_Missense_Mutation_p.Y39C|TRAF3_ENST00000539721.1_Missense_Mutation_p.Y39C|TRAF3_ENST00000347662.4_Missense_Mutation_p.Y39C	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	39					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y39C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CAAGGAGGTTACAAGGAAAAG	0.567																																					p.Y39C		Atlas-SNP	.											TRAF3,NS,carcinoma,0,1	TRAF3	60	1	1	Substitution - Missense(1)	endometrium(1)	c.A116G						scavenged	.	A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,4406		0,0,2203	98	87	91		116,116,116,116	5.4	1	14	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	TRAF3	NM_001199427.1,NM_003300.3,NM_145725.2,NM_145726.2	194,194,194,194	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/486,39/569,39/569,39/544	103336654	2,13004	2203	4300	6503	SO:0001583	missense	7187	exon3			GAGGTTACAAGGA	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.116A>G	14.37:g.103336654A>G	ENSP00000454207:p.Tyr39Cys	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	111	4	0.036036	NM_145726	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349702	0.61183	0.0	2.33E-4	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.52057	2.09;2.02;2.02;0.68	5.44	5.44	0.79542	.	0.051260	0.85682	D	0.000000	T	0.65228	0.2671	M	0.62209	1.925	0.49130	D	0.999751	D;D;D	0.69078	0.997;0.993;0.997	D;P;P	0.67382	0.951;0.848;0.808	T	0.68633	-0.5357	10	0.72032	D	0.01	-38.5373	15.5035	0.75719	1.0:0.0:0.0:0.0	.	39;39;39	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	C	39	ENSP00000376500:Y39C;ENSP00000328003:Y39C;ENSP00000332468:Y39C;ENSP00000445998:Y39C	ENSP00000328003:Y39C	Y	+	2	0	TRAF3	102406407	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	6.147000	0.71783	2.062000	0.61559	0.533000	0.62120	TAC	A|1.000;G|0.000	0.000	weak		0.567	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		G	103336654	A	G	103336654	3	3	22	1	0	0	0	0	1	0	0	0	16436	391	14	2	118	2	TRAF3	14	103336654	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	426663	103336654	4012886	7513	12621										
TRAF3	7187	hgsc.bcm.edu	37	chr14	103342049	103342049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgtgcagagcagttaaTgctgggacatctgctggtga	15	6	1	2	rs1131877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103342049T>C	ENST00000560371.1	+	4	603	c.386T>C	c.(385-387)aTg>aCg	p.M129T	TRAF3_ENST00000392745.2_Missense_Mutation_p.M129T|TRAF3_ENST00000351691.5_Missense_Mutation_p.M129T|TRAF3_ENST00000539721.1_Missense_Mutation_p.M129T|TRAF3_ENST00000347662.4_Missense_Mutation_p.M129T	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	129			M -> T (in dbSNP:rs1131877). {ECO:0000269|PubMed:7530216, ECO:0000269|PubMed:7533327}.		apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GAGCAGTTAATGCTGGGACAT	0.438													C|||	2353	0.469848	0.9062	0.4856	5008	,	,		18243	0.3978		0.2475	False		,,,				2504	0.1718				p.M129T		Atlas-SNP	.											.	TRAF3	60	.	0			c.T386C						PASS	.	C	THR/MET,THR/MET,THR/MET,THR/MET	3603,803	322.9+/-297.8	1488,627,88	132	125	127		386,386,386,386	3.6	0	14	dbSNP_86	127	2000,6600	722.8+/-406.4	217,1566,2517	yes	missense,missense,missense,missense	TRAF3	NM_001199427.1,NM_003300.3,NM_145725.2,NM_145726.2	81,81,81,81	1705,2193,2605	CC,CT,TT		23.2558,18.2251,43.0801	benign,benign,benign,benign	129/486,129/569,129/569,129/544	103342049	5603,7403	2203	4300	6503	SO:0001583	missense	7187	exon5			AGTTAATGCTGGG	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.386T>C	14.37:g.103342049T>C	ENSP00000454207:p.Met129Thr	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_145726	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	1021	0.4674908424908425	445	0.9044715447154471	160	0.4419889502762431	221	0.38636363636363635	195	0.25725593667546176	C	0.018	-1.475064	0.01035	0.817749	0.232558	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.51	3.64	0.41730	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.656589	0.16982	N	0.191649	T	0.00012	0.0000	N	0.01122	-1.005	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21449	-1.0245	9	0.13108	T	0.6	-2.886	8.278	0.31883	0.1279:0.7379:0.0:0.1342	rs1131877;rs2180394;rs2229853;rs3192127;rs17817905;rs52830086;rs57223463;rs1131877	129;129;129	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	T	129	ENSP00000376500:M129T;ENSP00000328003:M129T;ENSP00000332468:M129T;ENSP00000445998:M129T	ENSP00000328003:M129T	M	+	2	0	TRAF3	102411802	0.030000	0.19436	0.000000	0.03702	0.304000	0.27724	2.369000	0.44231	0.354000	0.24105	-0.119000	0.15052	ATG	T|0.550;C|0.450	0.450	strong		0.438	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		C	103342049	T	C	103342049	3	2	22	1	0	0	0	0	1	0	0	0	16436	1464	51	2	396	2	TRAF3	14	103342049	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5395	103342049	4007491	7514	12622										
AMN	81693	hgsc.bcm.edu	37	chr14	103395212	103395212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccgagcgcgtgccctgccGccacgacgacgtcttctttc	11	18	2	0	rs568801729		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103395212G>T	ENST00000299155.5	+	5	446	c.413G>T	c.(412-414)cGc>cTc	p.R138L		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGCCCTGCCGCCACGACGAC	0.706																																					p.R138L		Atlas-SNP	.											.	AMN	13	.	0			c.G413T						PASS	.						30	28	29					14																	103395212		2203	4297	6500	SO:0001583	missense	81693	exon5			CCTGCCGCCACGA	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.413G>T	14.37:g.103395212G>T	ENSP00000299155:p.Arg138Leu	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	93	54	0.580645	NM_030943	Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570223	0.45798	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.88664	-2.41	4.03	0.969	0.19686	.	0.560105	0.18314	U	0.145003	D	0.84083	0.5394	M	0.61703	1.905	0.26626	N	0.972569	P	0.38020	0.615	B	0.38954	0.286	T	0.76173	-0.3056	10	0.62326	D	0.03	-1.9881	2.5302	0.04701	0.11:0.1861:0.5126:0.1913	.	138	Q9BXJ7	AMNLS_HUMAN	L	138;84	ENSP00000299155:R138L	ENSP00000299155:R138L	R	+	2	0	AMN	102464965	0.003000	0.15002	0.737000	0.30932	0.919000	0.55068	0.296000	0.19083	-0.112000	0.11979	0.306000	0.20318	CGC	.	.	none		0.706	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			T	103395212	G	T	103395212	3	4	22	1	0	0	0	0	1	0	0	0	580	1087	38	4	431	4	AMN	14	103395212	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53163	103395212	3954328	7515	12623										
CDC42BPB	9578	hgsc.bcm.edu	37	chr14	103406169	103406169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaggccccgctcctaccgCctctgctgcagtctctcttc	9	18	3	1	rs60475222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103406169C>T	ENST00000361246.2	-	33	4995	c.4707G>A	c.(4705-4707)agG>agA	p.R1569R	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTCCTACCGCCTCTGCTGCA	0.597													C|||	35	0.00698882	0.0257	0.0014	5008	,	,		19254	0.0		0.0	False		,,,				2504	0.0				p.R1569R		Atlas-SNP	.											.	CDC42BPB	123	.	0			c.G4707A						PASS	.	C		110,4296	86.8+/-125.4	2,106,2095	147	158	155		4707	3.4	1	14	dbSNP_129	155	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		2,106,6395	TT,TC,CC		0.0,2.4966,0.8458		1569/1712	103406169	110,12896	2203	4300	6503	SO:0001819	synonymous_variant	9578	exon33			CTACCGCCTCTGC	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4707G>A	14.37:g.103406169C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	216	96	0.444444	NM_006035		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																			C|0.992;T|0.008	0.008	strong		0.597	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		T	103406169	C	T	103406169	2	4	22	1	0	0	0	0	0	0	0	1	3073	738	26	2		2	CDC42BPB	14	103406169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10957	103406169	3943371	7516	12624										
CDC42BPB	9578	hgsc.bcm.edu	37	chr14	103434985	103434985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagactttcttctccagctcGgatttgattttggaaatctc	7	9	3	2	rs55659700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103434985G>A	ENST00000361246.2	-	15	2352	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTCCAGCTCGGATTTGATTT	0.453													G|||	45	0.00898562	0.0257	0.0159	5008	,	,		19256	0.0		0.0	False		,,,				2504	0.0				p.S688S		Atlas-SNP	.											.	CDC42BPB	123	.	0			c.C2064T						PASS	.	G		111,4295	85.8+/-124.5	2,107,2094	83	90	88		2064	-9.2	0.2	14	dbSNP_129	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDC42BPB	NM_006035.3		2,108,6393	AA,AG,GG		0.0116,2.5193,0.8611		688/1712	103434985	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	9578	exon15			CAGCTCGGATTTG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2064C>T	14.37:g.103434985G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	98	47	0.479592	NM_006035		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																			G|0.992;A|0.008	0.008	strong		0.453	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103434985	G	A	103434985	2	1	22	1	0	0	0	0	0	0	0	1	3073	1103	39	1		1	CDC42BPB	14	103434985	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28816	103434985	3914555	7517	12625										
MARK3	4140	hgsc.bcm.edu	37	chr14	103941392	103941392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagaccagcactgcagatAgtgacctcaaagaagatgga	11	9	2	5	rs56305318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:103941392A>G	ENST00000429436.2	+	13	1837	c.1327A>G	c.(1327-1329)Agt>Ggt	p.S443G	MARK3_ENST00000216288.7_Missense_Mutation_p.S427G|MARK3_ENST00000553942.1_Missense_Mutation_p.S443G|MARK3_ENST00000303622.9_Missense_Mutation_p.S443G|MARK3_ENST00000335102.5_Missense_Mutation_p.S466G|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.S466G|MARK3_ENST00000440884.3_Missense_Mutation_p.S364G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	443			S -> G (in dbSNP:rs56305318). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9543386, ECO:0000269|Ref.2}.			plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CACTGCAGATAGTGACCTCAA	0.448													A|||	242	0.0483227	0.1793	0.0072	5008	,	,		20680	0.0		0.0	False		,,,				2504	0.0				p.S443G		Atlas-SNP	.											.	MARK3	86	.	0			c.A1327G						PASS	.	A	GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER	577,3417		51,475,1471	59	61	60		1327,1327,1279,1090,1327	2	0.8	14	dbSNP_129	60	1,8343		0,1,4171	yes	missense,missense,missense,missense,missense	MARK3	NM_001128918.1,NM_001128919.1,NM_001128920.1,NM_001128921.1,NM_002376.5	56,56,56,56,56	51,476,5642	GG,GA,AA		0.012,14.4467,4.6847	benign,benign,benign,benign,benign	443/754,443/745,427/714,364/660,443/730	103941392	578,11760	1997	4172	6169	SO:0001583	missense	4140	exon13			GCAGATAGTGACC	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1327A>G	14.37:g.103941392A>G	ENSP00000411397:p.Ser443Gly	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	85	48	0.564706	NM_001128919	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	87|87	0.03983516483516483|0.03983516483516483	83|83	0.16869918699186992|0.16869918699186992	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	0|0	0.0|0.0	A|A	12.87|12.87	2.068525|2.068525	0.36470|0.36470	0.144467|0.144467	1.2E-4|1.2E-4	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.|T;T;T;T;T;T;T	.|0.55234	.|0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.78|5.78	2.0|2.0	0.26442|0.26442	.|.	.|0.269900	.|0.46758	.|N	.|0.000264	T|T	0.00144|0.00144	0.0004|0.0004	L|L	0.40543|0.40543	1.245|1.245	0.27271|0.27271	P|P	0.9583608|0.9583608	.|B;B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B	.|0.10450	.|0.001;0.004;0.001;0.001;0.0;0.005;0.001	T|T	0.07868|0.07868	-1.0750|-1.0750	4|9	.|0.29301	.|T	.|0.29	.|.	9.2811|9.2811	0.37729|0.37729	0.781:0.0:0.219:0.0|0.781:0.0:0.219:0.0	rs56305318;rs61730317|rs56305318;rs61730317	.|450;466;427;443;364;443;443	.|P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;MARK3_HUMAN;.;.;.	M|G	194|466;92;364;466;443;443;427;443	.|ENSP00000335347:S466G;ENSP00000402104:S364G;ENSP00000408092:S466G;ENSP00000411397:S443G;ENSP00000303698:S443G;ENSP00000216288:S427G;ENSP00000450772:S443G	.|ENSP00000216288:S443G	I|S	+|+	3|1	3|0	MARK3|MARK3	103011145|103011145	0.979000|0.979000	0.34478|0.34478	0.769000|0.769000	0.31535|0.31535	0.720000|0.720000	0.41350|0.41350	1.621000|1.621000	0.36986|0.36986	0.090000|0.090000	0.17273|0.17273	0.533000|0.533000	0.62120|0.62120	ATA|AGT	A|0.958;G|0.042	0.042	strong		0.448	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		G	103941392	A	G	103941392	3	3	22	1	0	0	0	0	1	0	0	0	9314	420	15	3	1377	3	MARK3	14	103941392	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	506407	103941392	3408148	7518	12626										
C14orf2	9556	hgsc.bcm.edu	37	chr14	104381502	104381502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcttcatggggatccataTgtttttaataatactttgaa	9	5	1	1	rs1053419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104381502T>C	ENST00000554880.1	-	2	178	c.25A>G	c.(25-27)Ata>Gta	p.I9V	C14orf2_ENST00000557040.1_Missense_Mutation_p.I9V|C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000555030.1_Missense_Mutation_p.I9V|C14orf2_ENST00000414262.2_Missense_Mutation_p.I26V|C14orf2_ENST00000286953.3_Missense_Mutation_p.I9V|C14orf2_ENST00000554713.1_Missense_Mutation_p.I9V|C14orf2_ENST00000553430.1_Missense_Mutation_p.I9V			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	9			I -> V (in dbSNP:rs1053419).			integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				kidney(1)	1				Epithelial(152;0.223)		GGGATCCATATGTTTTTAATA	0.358													T|||	918	0.183307	0.4281	0.1009	5008	,	,		16886	0.0496		0.0855	False		,,,				2504	0.1493				p.I26V		Atlas-SNP	.											.	C14orf2	7	.	0			c.A76G						PASS	.	T	VAL/ILE,VAL/ILE	1780,2626	523.3+/-371.0	370,1040,793	82	81	81		76,25	1.6	0	14	dbSNP_86	81	741,7859	177.8+/-227.3	36,669,3595	yes	missense,missense	C14orf2	NM_001127393.1,NM_004894.2	29,29	406,1709,4388	CC,CT,TT		8.6163,40.3995,19.3834	benign,benign	26/76,9/59	104381502	2521,10485	2203	4300	6503	SO:0001583	missense	9556	exon3			TCCATATGTTTTT	AF054175	CCDS9986.1, CCDS45169.1	14q32.33	2013-02-18			ENSG00000156411	ENSG00000156411			1188	protein-coding gene	gene with protein product	"6.8 kDa mitochondrial proteolipid"	604573				9653160	Standard	NM_001127393		Approved	MP68	uc001yoi.4	P56378	OTTHUMG00000171601	ENST00000554880.1:c.25A>G	14.37:g.104381502T>C	ENSP00000452133:p.Ile9Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_001127393	B2R588|G3V5Q3|Q86TT7	Missense_Mutation	SNP	ENST00000554880.1	37	CCDS9986.1	360	0.16483516483516483	219	0.4451219512195122	42	0.11602209944751381	38	0.06643356643356643	61	0.08047493403693931	T	0	-2.619437	0.00118	0.403995	0.086163	ENSG00000156411	ENST00000286953;ENST00000554880;ENST00000555030;ENST00000414262;ENST00000553430;ENST00000557040;ENST00000554713	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.5	1.56	0.23342	.	0.528786	0.15725	N	0.247738	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45338	-0.9268	8	0.02654	T	1	.	4.7772	0.13185	0.1482:0.6035:0.0:0.2483	rs1053419;rs1802294;rs3168859;rs52835603;rs59140229;rs1053419	9;9;9	G3V556;G3V5Q3;P56378	.;.;68MP_HUMAN	V	9;9;9;26;9;9;9	ENSP00000286953:I9V;ENSP00000452133:I9V;ENSP00000452186:I9V;ENSP00000401770:I26V;ENSP00000452462:I9V;ENSP00000450894:I9V;ENSP00000451500:I9V	ENSP00000286953:I9V	I	-	1	0	C14orf2	103451255	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.199000	0.17237	0.281000	0.22233	-0.766000	0.03442	ATA	T|0.809;C|0.191;A|0.000	0.191	strong		0.358	C14orf2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414398.1	NM_001127393		C	104381502	T	C	104381502	3	2	22	1	0	0	0	0	1	0	0	0	1768	1464	51	2	163	2	C14orf2	14	104381502	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	440110	104381502	2968038	7519	12627										
ASPG	374569	hgsc.bcm.edu	37	chr14	104559852	104559852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagccgcaaccagaggatTctctacaccgtgctggagtg	12	13	1	1	rs941953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104559852T>C	ENST00000551177.1	+	3	308	c.216T>C	c.(214-216)atT>atC	p.I72I	ASPG_ENST00000455920.2_Silent_p.I72I|ASPG_ENST00000546892.2_Silent_p.I72I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	72	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACCAGAGGATTCTCTACACCG	0.622													C|||	2067	0.41274	0.6823	0.3314	5008	,	,		13262	0.3869		0.1809	False		,,,				2504	0.3712				p.I72I		Atlas-SNP	.											.	ASPG	34	.	0			c.T216C						PASS	.	C		2280,1854		606,1068,393	69	81	77		216	1.6	0.8	14	dbSNP_86	77	1413,6957		119,1175,2891	no	coding-synonymous	ASPG	NM_001080464.2		725,2243,3284	CC,CT,TT		16.8817,44.8476,29.5345		72/574	104559852	3693,8811	2067	4185	6252	SO:0001819	synonymous_variant	374569	exon3			GAGGATTCTCTAC		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.216T>C	14.37:g.104559852T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_001080464	B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	CCDS45170.2	788	0.3608058608058608	317	0.6443089430894309	126	0.34806629834254144	218	0.3811188811188811	127	0.16754617414248021	C	2.774	-0.255089	0.05829	0.551524	0.168817	ENSG00000166183	ENST00000551170	.	.	.	3.57	1.64	0.23874	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.19575	P	0.9999653784	.	.	.	.	.	.	T	0.39820	-0.9595	3	.	.	.	-22.8141	3.8673	0.09021	0.1665:0.4251:0.0:0.4083	rs941953;rs1744283;rs59940089;rs941953	.	.	.	P	9	.	.	S	+	1	0	ASPG	103629605	0.001000	0.12720	0.761000	0.31378	0.086000	0.17979	-0.340000	0.07821	0.172000	0.19760	-1.140000	0.01884	TCT	T|0.625;C|0.375	0.375	strong		0.622	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		C	104559852	T	C	104559852	2	2	22	1	0	0	0	0	0	0	0	1	1052	1771	62	2		2	ASPG	14	104559852	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	178350	104559852	2789688	7520	12628										
ASPG	374569	hgsc.bcm.edu	37	chr14	104559919	104559919	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccatcgctgagtgggttTgccttgcccagaccatcaag					rs1770984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104559919T>C	ENST00000551177.1	+	3	375	c.283T>C	c.(283-285)Tgc>Cgc	p.C95R	ASPG_ENST00000455920.2_Missense_Mutation_p.C95R|ASPG_ENST00000546892.2_Missense_Mutation_p.C95R	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	95	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.		C -> R (in dbSNP:rs1770984).		asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGAGTGGGTTTGCCTTGCCCA	0.642													C|||	2067	0.41274	0.6823	0.3314	5008	,	,		11380	0.3869		0.1809	False		,,,				2504	0.3712				p.C95R		Atlas-SNP	.											.	ASPG	34	.	0			c.T283C						PASS	.	C	ARG/CYS	2289,1867		605,1079,394	77	89	85		283	2.5	0.7	14	dbSNP_89	85	1424,6954		120,1184,2885	yes	missense	ASPG	NM_001080464.2	180	725,2263,3279	CC,CT,TT		16.9969,44.923,29.6234	benign	95/574	104559919	3713,8821	2078	4189	6267	SO:0001583	missense	374569	exon3			TGGGTTTGCCTTG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.283T>C	14.37:g.104559919T>C	ENSP00000450040:p.Cys95Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_001080464	B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	CCDS45170.2	870|870	0.3983516483516483|0.3983516483516483	368|368	0.7479674796747967|0.7479674796747967	131|131	0.36187845303867405|0.36187845303867405	230|230	0.4020979020979021|0.4020979020979021	141|141	0.18601583113456466|0.18601583113456466	C|C	0.005|0.005	-2.183746|-2.183746	0.00305|0.00305	0.55077|0.55077	0.169969|0.169969	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	T;T;T|.	0.18338|.	2.22;2.22;2.22|.	3.57|3.57	2.46|2.46	0.29980|0.29980	.|.	0.458541|.	0.22121|.	N|.	0.064331|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00462|0.00462	-1.47|-1.47	0.80722|0.80722	P|P	0.0|0.0	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|T	0.28586|0.28586	-1.0039|-1.0039	9|4	0.02654|.	T|.	1|.	-7.6268|-7.6268	4.4634|4.4634	0.11676|0.11676	0.4411:0.4302:0.0:0.1287|0.4411:0.4302:0.0:0.1287	rs1770984;rs2758759;rs60259119;rs1770984|rs1770984;rs2758759;rs60259119;rs1770984	95;95;95;123|.	G3V1Y8;Q86U10;Q86U10-3;E5RFC2|.	.;LPP60_HUMAN;.;.|.	R|S	95;123;95;95|31	ENSP00000450040:C95R;ENSP00000448911:C95R;ENSP00000389003:C95R|.	ENSP00000299234:C123R|.	C|L	+|+	1|2	0|0	ASPG|ASPG	103629672|103629672	0.000000|0.000000	0.05858|0.05858	0.735000|0.735000	0.30896|0.30896	0.359000|0.359000	0.29487|0.29487	0.723000|0.723000	0.25939|0.25939	0.637000|0.637000	0.30526|0.30526	-0.320000|-0.320000	0.08662|0.08662	TGC|TTG	T|0.635;C|0.365	0.365	strong		0.642	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		C	104559919	T	C	104559919	3	2	22	1	0	0	0	0	1	0	0	0	1052	1812	63	2	293	2	ASPG	14	104559919	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67	104559919	2789621	7521	12629	260	2								
ASPG	374569	hgsc.bcm.edu	37	chr14	104559922	104559922	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcgctgagtgggtttgcCttgcccagaccatcaaggta					rs1744284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104559922C>G	ENST00000551177.1	+	3	378	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V	ASPG_ENST00000455920.2_Missense_Mutation_p.L96V|ASPG_ENST00000546892.2_Missense_Mutation_p.L96V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	96	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.		L -> V (in dbSNP:rs1744284).		asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTGGGTTTGCCTTGCCCAGAC	0.642													G|||	2066	0.41254	0.6815	0.3314	5008	,	,		11004	0.3869		0.1809	False		,,,				2504	0.3712				p.L96V		Atlas-SNP	.											.	ASPG	34	.	0			c.C286G						PASS	.	G	VAL/LEU	2288,1866		607,1074,396	73	86	82		286	1	0.2	14	dbSNP_89	82	1422,6954		119,1184,2885	yes	missense	ASPG	NM_001080464.2	32	726,2258,3281	GG,GC,CC		16.9771,44.9206,29.6089	benign	96/574	104559922	3710,8820	2077	4188	6265	SO:0001583	missense	374569	exon3			GTTTGCCTTGCCC		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.286C>G	14.37:g.104559922C>G	ENSP00000450040:p.Leu96Val	Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	107	106	0.990654	NM_001080464	B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	CCDS45170.2	869|869	0.39789377289377287|0.39789377289377287	367|367	0.7459349593495935|0.7459349593495935	131|131	0.36187845303867405|0.36187845303867405	230|230	0.4020979020979021|0.4020979020979021	141|141	0.18601583113456466|0.18601583113456466	G|G	3.291|3.291	-0.144993|-0.144993	0.06627|0.06627	0.550794|0.550794	0.169771|0.169771	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	T;T;T|.	0.35605|.	1.3;1.3;1.3|.	3.57|3.57	1.01|1.01	0.19927|0.19927	.|.	0.120423|.	0.53938|.	N|.	0.000041|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.33792|0.33792	1.035|1.035	0.54753|0.54753	P|P	2.0000000000020002E-5|2.0000000000020002E-5	B;B;B;B|.	0.11235|.	0.004;0.0;0.0;0.001|.	B;B;B;B|.	0.15052|.	0.012;0.001;0.001;0.008|.	T|T	0.30149|0.30149	-0.9988|-0.9988	9|4	0.62326|.	D|.	0.03|.	-1.3355|-1.3355	5.606|5.606	0.17379|0.17379	0.5774:0.325:0.0976:0.0|0.5774:0.325:0.0976:0.0	rs1744284;rs1890980;rs2758760;rs56974110;rs1744284|rs1744284;rs1890980;rs2758760;rs56974110;rs1744284	96;96;96;124|.	G3V1Y8;Q86U10;Q86U10-3;E5RFC2|.	.;LPP60_HUMAN;.;.|.	V|R	96;124;96;96|32	ENSP00000450040:L96V;ENSP00000448911:L96V;ENSP00000389003:L96V|.	ENSP00000299234:L124V|.	L|P	+|+	1|2	0|0	ASPG|ASPG	103629675|103629675	0.924000|0.924000	0.31332|0.31332	0.223000|0.223000	0.23860|0.23860	0.015000|0.015000	0.08874|0.08874	2.059000|2.059000	0.41384|0.41384	-0.348000|-0.348000	0.08286|0.08286	-1.145000|-1.145000	0.01858|0.01858	CTT|CCT	C|0.634;G|0.366	0.366	strong		0.642	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		G	104559922	C	G	104559922	3	3	22	1	0	0	0	0	1	0	0	0	1052	681	24	4	296	4	ASPG	14	104559922	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	104559922	2789618	7522	12630	260	2								
ASPG	374569	hgsc.bcm.edu	37	chr14	104563932	104563932	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgacggccgtgagaacctGctgggggcactgctcatggc	16	12	1	1	rs1465163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104563932G>T	ENST00000551177.1	+	5	563	c.471G>T	c.(469-471)ctG>ctT	p.L157L	ASPG_ENST00000455920.2_Silent_p.L157L|ASPG_ENST00000546892.2_Silent_p.L157L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	157	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTGAGAACCTGCTGGGGGCAC	0.672													G|||	1204	0.240415	0.2648	0.2133	5008	,	,		15130	0.37		0.0646	False		,,,				2504	0.274				p.L157L		Atlas-SNP	.											Q86U10_HUMAN,NS,carcinoma,0,2	ASPG	34	2	0			c.G471T						PASS	.	G		763,3163		64,635,1264	18	22	20		471	4.4	1	14	dbSNP_88	20	463,7791		13,437,3677	no	coding-synonymous	ASPG	NM_001080464.2		77,1072,4941	TT,TG,GG		5.6094,19.4345,10.0657		157/574	104563932	1226,10954	1963	4127	6090	SO:0001819	synonymous_variant	374569	exon5			GAACCTGCTGGGG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.471G>T	14.37:g.104563932G>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	172	81	0.47093	NM_001080464	B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	CCDS45170.2	469	0.21474358974358973	129	0.2621951219512195	80	0.22099447513812154	215	0.3758741258741259	45	0.059366754617414245	G	9.001	0.980146	0.18812	0.194345	0.056094	ENSG00000166183	ENST00000551170	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22382	-1.0218	3	.	.	.	-15.8172	15.6926	0.77466	0.0:0.0:1.0:0.0	rs1465163;rs1744287;rs59169409;rs1465163	.	.	.	S	94	.	.	A	+	1	0	ASPG	103633685	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.245000	0.32790	1.966000	0.57179	0.563000	0.77884	GCT	G|0.778;T|0.222	0.222	strong		0.672	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		T	104563932	G	T	104563932	2	4	22	1	0	0	0	0	0	0	0	1	1052	1306	46	4		4	ASPG	14	104563932	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4010	104563932	2785608	7523	12631										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104638926	104638926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctaggccgaagtctgctcGgggaccgtggccgacgtgct	15	14	1	0	rs2275595	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104638926G>A	ENST00000423312.2	+	7	1341	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S	KIF26A_ENST00000315264.7_Silent_p.S308S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	447	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AAGTCTGCTCGGGGACCGTGG	0.642													G|||	354	0.0706869	0.2163	0.0231	5008	,	,		17254	0.0228		0.004	False		,,,				2504	0.0256				p.S447S		Atlas-SNP	.											.	KIF26A	84	.	0			c.G1341A						PASS	.	G		715,3455		52,611,1422	63	67	66		1341	-3.5	1	14	dbSNP_100	66	14,8402		0,14,4194	no	coding-synonymous	KIF26A	NM_015656.1		52,625,5616	AA,AG,GG		0.1663,17.1463,5.7922		447/1883	104638926	729,11857	2085	4208	6293	SO:0001819	synonymous_variant	26153	exon7			CTGCTCGGGGACC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1341G>A	14.37:g.104638926G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			G|0.932;A|0.068	0.068	strong		0.642	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104638926	G	A	104638926	2	1	22	1	0	0	0	0	0	0	0	1	8294	1103	39	1		1	KIF26A	14	104638926	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74994	104638926	2710614	7524	12632										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104641612	104641612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccaccggccctccaagggTccccgagacgcagaccactt	10	19	0	2	rs4906422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:104641612T>C	ENST00000423312.2	+	12	2487	c.2487T>C	c.(2485-2487)ggT>ggC	p.G829G	KIF26A_ENST00000315264.7_Silent_p.G690G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGGGTCCCCGAGACG	0.682													C|||	1475	0.294529	0.1127	0.3545	5008	,	,		14159	0.3998		0.3022	False		,,,				2504	0.3814				p.G829G		Atlas-SNP	.											KIF26A,NS,carcinoma,0,1	KIF26A	84	1	0			c.T2487C						PASS	.	C		495,3585		34,427,1579	15	18	17		2487	-2.1	0	14	dbSNP_111	17	2411,5939		389,1633,2153	no	coding-synonymous	KIF26A	NM_015656.1		423,2060,3732	CC,CT,TT		28.8743,12.1324,23.3789		829/1883	104641612	2906,9524	2040	4175	6215	SO:0001819	synonymous_variant	26153	exon12			CAAGGGTCCCCGA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2487T>C	14.37:g.104641612T>C		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	41	19	0.463415	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.708;C|0.292	0.292	strong		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104641612	T	C	104641612	2	2	22	1	0	0	0	0	0	0	0	1	8294	1654	58	2		2	KIF26A	14	104641612	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2686	104641612	2707928	7525	12633										
INF2	64423	hgsc.bcm.edu	37	chr14	105180977	105180977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgctgtccacagccgtGgtgccagaccccctgcagca	12	16	0	1	rs9672065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105180977G>A	ENST00000392634.4	+	21	3590	c.3478G>A	c.(3478-3480)Ggt>Agt	p.G1160S	INF2_ENST00000330634.7_Missense_Mutation_p.G1160S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1160					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCACAGCCGTGGTGCCAGACC	0.652													G|||	110	0.0219649	0.0734	0.0144	5008	,	,		16731	0.0		0.003	False		,,,				2504	0.0				p.G1160S		Atlas-SNP	.											.	INF2	148	.	0			c.G3478A						PASS	.	G	SER/GLY,SER/GLY	221,3991		2,217,1887	38	46	43		3478,3478	-8.5	0	14	dbSNP_119	43	6,8424		0,6,4209	yes	missense,missense	INF2	NM_022489.3,NM_001031714.3	56,56	2,223,6096	AA,AG,GG		0.0712,5.2469,1.7956	benign,benign	1160/1250,1160/1241	105180977	227,12415	2106	4215	6321	SO:0001583	missense	64423	exon21			AGCCGTGGTGCCA	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3478G>A	14.37:g.105180977G>A	ENSP00000376410:p.Gly1160Ser	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	39	26	0.666667	NM_022489	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	CCDS9989.2	48	0.02197802197802198	44	0.08943089430894309	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	2.964	-0.214005	0.06101	0.052469	7.12E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.79940	-1.3;-1.32	4.24	-8.47	0.00939	.	1.401710	0.05279	N	0.519086	T	0.02807	0.0084	N	0.02539	-0.55	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38929	-0.9638	10	0.02654	T	1	.	10.5338	0.44992	0.7803:0.1044:0.1153:0.0	rs9672065	1160;1160	Q27J81-2;Q27J81	.;INF2_HUMAN	S	1160	ENSP00000376406:G1160S;ENSP00000376410:G1160S	ENSP00000252527:G628S	G	+	1	0	INF2	104252022	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.762000	0.01803	-2.735000	0.00382	-0.948000	0.02665	GGT	G|0.978;A|0.022	0.022	strong		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		A	105180977	G	A	105180977	3	1	22	1	0	0	0	0	1	0	0	0	7734	1348	47	2	3560	2	INF2	14	105180977	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	539365	105180977	2168563	7526	12634										
AKT1	207	hgsc.bcm.edu	37	chr14	105238783	105238783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcgtcctcggagcccccGccaagcctgcaggcaggaaa	13	15	0	0	rs11555434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105238783G>A	ENST00000554581.1	-	11	2659	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	AKT1_ENST00000555528.1_Silent_p.G393G|AKT1_ENST00000554848.1_Silent_p.G393G|AKT1_ENST00000407796.2_Silent_p.G393G|AKT1_ENST00000402615.2_Silent_p.G393G|AKT1_ENST00000554192.1_Silent_p.G80G|AKT1_ENST00000555458.1_Silent_p.G88G|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Silent_p.G393G|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000544168.1_Silent_p.G331G			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGGAGCCCCCGCCAAGCCTGC	0.642		1	Mis		"breast, colorectal, ovarian, NSCLC"								g|||	44	0.00878594	0.0325	0.0014	5008	,	,		18738	0.0		0.0	False		,,,				2504	0.0				p.G393G		Atlas-SNP	.		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	.	AKT1	379	.	0			c.C1179T						PASS	.		,,	113,4291	81.4+/-119.9	5,103,2094	65	48	54		1179,1179,1179	-6.1	0.5	14	dbSNP_120	54	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	5,107,6390	AA,AG,GG		0.0465,2.5658,0.8997	,,	393/481,393/481,393/481	105238783	117,12887	2202	4300	6502	SO:0001819	synonymous_variant	207	exon12			GCCCCCGCCAAGC	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1179C>T	14.37:g.105238783G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	130	60	0.461538	NM_005163	B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	CCDS9994.1																																																																																			G|0.992;A|0.008	0.008	strong		0.642	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		A	105238783	G	A	105238783	2	1	22	1	0	0	0	0	0	0	0	1	478	1074	38	1		1	AKT1	14	105238783	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57806	105238783	2110757	7527	12635										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105405599	105405599	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctctgagctgggggcagGgaaggagaaccttggtacca	15	9	1	2	rs3742935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105405599G>C	ENST00000333244.5	-	7	16308	c.16189C>G	c.(16189-16191)Cct>Gct	p.P5397A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.P395A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5397			P -> A (in dbSNP:rs3742935). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P367A(2)|p.P5397A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGGCAGGGAAGGAGAAC	0.483													G|||	2780	0.555112	0.6437	0.5115	5008	,	,		20937	0.4117		0.5338	False		,,,				2504	0.636				p.P5397A		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,3	AHNAK2	719	3	3	Substitution - Missense(3)	prostate(2)|stomach(1)	c.C16189G						PASS	.	G	ALA/PRO	2594,1260		879,836,212	66	69	68		16189	4.4	0.5	14	dbSNP_107	68	4503,3789		1234,2035,877	yes	missense	AHNAK2	NM_138420.2	27	2113,2871,1089	CC,CG,GG		45.6946,32.6933,41.5692	possibly-damaging	5397/5796	105405599	7097,5049	1927	4146	6073	SO:0001583	missense	113146	exon7			GGGCAGGGAAGGA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16189C>G	14.37:g.105405599G>C	ENSP00000353114:p.Pro5397Ala	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	137	137	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1147	0.5251831501831502	324	0.6585365853658537	199	0.5497237569060773	222	0.3881118881118881	402	0.5303430079155673	G	13.02	2.111375	0.37242	0.673067	0.543054	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02916	4.11;4.95	5.31	4.36	0.52297	.	0.486738	0.15250	U	0.272366	T	0.00012	0.0000	L	0.34521	1.04	0.41306	P	0.012923000000000018	D	0.56287	0.975	P	0.51516	0.672	T	0.00051	-1.2192	9	0.07990	T	0.79	.	11.0018	0.47611	0.0:0.0:0.7372:0.2627	rs3742935;rs17846446;rs17859495;rs52832784;rs60927454;rs3742935	5397	Q8IVF2	AHNK2_HUMAN	A	395;5397	ENSP00000450998:P395A;ENSP00000353114:P5397A	ENSP00000353114:P5397A	P	-	1	0	AHNAK2	104476644	0.905000	0.30787	0.474000	0.27266	0.832000	0.47134	1.290000	0.33319	2.663000	0.90544	0.491000	0.48974	CCT	G|0.480;C|0.520	0.520	strong		0.483	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105405599	G	C	105405599	3	2	22	1	0	0	0	0	1	0	0	0	415	1232	43	4	1202	4	AHNAK2	14	105405599	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	166816	105405599	1943941	7528	12636			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105405942	105405942	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtcatcccagcagtggaGaggtgcagcttcaagcctgt	12	12	2	1	rs28454709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105405942G>A	ENST00000333244.5	-	7	15965	c.15846C>T	c.(15844-15846)ctC>ctT	p.L5282L	AHNAK2_ENST00000557457.1_Silent_p.L280L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5282						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCAGTGGAGAGGTGCAGCT	0.517													G|||	2779	0.554912	0.6437	0.5115	5008	,	,		20019	0.4107		0.5338	False		,,,				2504	0.636				p.L5282L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C15846T						PASS	.	G		2726,1334		924,878,228	87	91	90		15846	-4.9	0	14	dbSNP_125	90	4567,3831		1263,2041,895	no	coding-synonymous	AHNAK2	NM_138420.2		2187,2919,1123	AA,AG,GG		45.618,32.8571,41.4593		5282/5796	105405942	7293,5165	2030	4199	6229	SO:0001819	synonymous_variant	113146	exon7			AGTGGAGAGGTGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15846C>T	14.37:g.105405942G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	67	65	0.970149	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.467;A|0.533	0.533	strong		0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105405942	G	A	105405942	2	1	22	1	0	0	0	0	0	0	0	1	415	929	33	2		2	AHNAK2	14	105405942	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	343	105405942	1943598	7529	12637			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105406238	105406238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaccagctttcctgcgagtActtggtcatggcttcctcct	8	13	1	0	rs2819419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105406238A>C	ENST00000333244.5	-	7	15669	c.15550T>G	c.(15550-15552)Tac>Gac	p.Y5184D	AHNAK2_ENST00000557457.1_Missense_Mutation_p.Y182D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5184			Y -> D (in dbSNP:rs2819419). {ECO:0000269|PubMed:17974005}.			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Y154D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCTGCGAGTACTTGGTCATG	0.557													C|||	2959	0.590855	0.7632	0.5216	5008	,	,		21547	0.4127		0.5467	False		,,,				2504	0.636				p.Y5184D		Atlas-SNP	.											AHNAK2,NS,carcinoma,0,1	AHNAK2	719	1	1	Substitution - Missense(1)	stomach(1)	c.T15550G						PASS	.	C	ASP/TYR	2973,979		1117,739,120	184	193	190		15550	2	0	14	dbSNP_100	190	4532,3802		1244,2044,879	yes	missense	AHNAK2	NM_138420.2	160	2361,2783,999	CC,CA,AA		45.6204,24.7723,38.9142	benign	5184/5796	105406238	7505,4781	1976	4167	6143	SO:0001583	missense	113146	exon7			GCGAGTACTTGGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15550T>G	14.37:g.105406238A>C	ENSP00000353114:p.Tyr5184Asp	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	30	30	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1209	0.5535714285714286	381	0.774390243902439	202	0.5580110497237569	222	0.3881118881118881	404	0.5329815303430079	C	0.013	-1.626373	0.00813	0.752277	0.543796	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02552	4.25;5.4	3.85	2.0	0.26442	.	0.610414	0.13077	N	0.415632	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04191	-1.0970	9	0.12766	T	0.61	.	3.6893	0.08340	0.1932:0.5963:0.0:0.2104	rs2819419;rs17232090;rs60333253;rs2819419	5184	Q8IVF2	AHNK2_HUMAN	D	182;5184	ENSP00000450998:Y182D;ENSP00000353114:Y5184D	ENSP00000353114:Y5184D	Y	-	1	0	AHNAK2	104477283	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.242000	0.08928	0.225000	0.20959	-0.217000	0.12591	TAC	A|0.417;C|0.583	0.583	strong		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105406238	A	C	105406238	3	2	22	1	0	0	0	0	1	0	0	0	415	391	14	5	1841	5	AHNAK2	14	105406238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	296	105406238	1943302	7530	12638			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105407031	105407031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaagctcttctgggccctgAgacacacaggtgcctgggga	13	12	2	1	rs11623422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105407031A>G	ENST00000333244.5	-	7	14876	c.14757T>C	c.(14755-14757)tcT>tcC	p.S4919S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4919						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGCCCTGAGACACACAGG	0.602													G|||	2779	0.554912	0.6437	0.5115	5008	,	,		17679	0.4107		0.5338	False		,,,				2504	0.636				p.S4919S		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.T14757C						PASS	.	G		2588,1264		876,836,214	43	44	44		14757	-4.6	0	14	dbSNP_120	44	4478,3790		1234,2010,890	no	coding-synonymous	AHNAK2	NM_138420.2		2110,2846,1104	GG,GA,AA		45.8394,32.8141,41.6997		4919/5796	105407031	7066,5054	1926	4134	6060	SO:0001819	synonymous_variant	113146	exon7			GCCCTGAGACACA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14757T>C	14.37:g.105407031A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.459;G|0.541	0.541	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105407031	A	G	105407031	2	3	22	1	0	0	0	0	0	0	0	1	415	291	11	3		3	AHNAK2	14	105407031	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	793	105407031	1942509	7531	12639			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105407208	105407208	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatagaatttaggaaaagaTacctgaccaagagaaacagg	9	5	0	4	rs11851053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105407208T>C	ENST00000333244.5	-	7	14699	c.14580A>G	c.(14578-14580)gtA>gtG	p.V4860V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4860						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TAGGAAAAGATACCTGACCAA	0.493													C|||	2779	0.554912	0.6437	0.5115	5008	,	,		20513	0.4107		0.5338	False		,,,				2504	0.636				p.V4860V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A14580G						PASS	.	C		2565,1247		870,825,211	30	31	31		14580	-0.4	0	14	dbSNP_120	31	4484,3794		1234,2016,889	no	coding-synonymous	AHNAK2	NM_138420.2		2104,2841,1100	CC,CT,TT		45.8323,32.7125,41.6956		4860/5796	105407208	7049,5041	1906	4139	6045	SO:0001819	synonymous_variant	113146	exon7			AAAAGATACCTGA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14580A>G	14.37:g.105407208T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	74	73	0.986486	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.457;C|0.543	0.543	strong		0.493	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105407208	T	C	105407208	2	2	22	1	0	0	0	0	0	0	0	1	415	1393	49	2		2	AHNAK2	14	105407208	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	177	105407208	1942332	7532	12640			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105407798	105407798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattccacaatgggaaatgTggaagtcttctcatggaatg	11	6	2	1	rs4465542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105407798T>C	ENST00000333244.5	-	7	14109	c.13990A>G	c.(13990-13992)Aca>Gca	p.T4664A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4664			T -> A (in dbSNP:rs4465542). {ECO:0000269|PubMed:17974005}.			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGGAAATGTGGAAGTCTTC	0.428													C|||	2780	0.555112	0.6437	0.5115	5008	,	,		21212	0.4117		0.5338	False		,,,				2504	0.636				p.T4664A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A13990G						PASS	.	C	ALA/THR	2580,1258		871,838,210	45	48	47		13990	-3.4	0	14	dbSNP_111	47	4456,3770		1222,2012,879	yes	missense	AHNAK2	NM_138420.2	58	2093,2850,1089	CC,CT,TT		45.8303,32.7775,41.6777	benign	4664/5796	105407798	7036,5028	1919	4113	6032	SO:0001583	missense	113146	exon7			GAAATGTGGAAGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13990A>G	14.37:g.105407798T>C	ENSP00000353114:p.Thr4664Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1144	0.5238095238095238	324	0.6585365853658537	199	0.5497237569060773	219	0.38286713286713286	402	0.5303430079155673	C	0.024	-1.386842	0.01194	0.672225	0.541697	ENSG00000185567	ENST00000333244	T	0.00626	6.13	1.71	-3.43	0.04810	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	8	0.07990	T	0.79	.	2.1446	0.03784	0.2223:0.3902:0.2581:0.1294	rs4465542;rs17232097;rs52808542;rs57895880;rs4465542	4664	Q8IVF2	AHNK2_HUMAN	A	4664	ENSP00000353114:T4664A	ENSP00000353114:T4664A	T	-	1	0	AHNAK2	104478843	0.009000	0.17119	0.000000	0.03702	0.023000	0.10783	2.491000	0.45303	-2.122000	0.00824	-1.026000	0.02426	ACA	T|0.466;C|0.534	0.534	strong		0.428	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105407798	T	C	105407798	3	2	22	1	0	0	0	0	1	0	0	0	415	1696	59	2	3401	2	AHNAK2	14	105407798	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	590	105407798	1941742	7533	12641			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408030	105408030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcagagacacctccacAtcgggggccatcacctctgc	11	16	2	1	rs9671643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408030A>G	ENST00000333244.5	-	7	13877	c.13758T>C	c.(13756-13758)gaT>gaC	p.D4586D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4586						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCTCCACATCGGGGGCCA	0.647													G|||	2782	0.555511	0.6437	0.5144	5008	,	,		18618	0.4117		0.5338	False		,,,				2504	0.636				p.D4586D		Atlas-SNP	.											AHNAK2_ENST00000333244,caecum,carcinoma,-2,1	AHNAK2	719	1	0			c.T13758C						PASS	.	G		2655,1279		904,847,216	94	106	102		13758	-4.7	0	14	dbSNP_119	102	4494,3794		1234,2026,884	no	coding-synonymous	AHNAK2	NM_138420.2		2138,2873,1100	GG,GA,AA		45.777,32.5114,41.5071		4586/5796	105408030	7149,5073	1967	4144	6111	SO:0001819	synonymous_variant	113146	exon7			CTCCACATCGGGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13758T>C	14.37:g.105408030A>G		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	181	181	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.469;G|0.531	0.531	strong		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408030	A	G	105408030	2	3	22	1	0	0	0	0	0	0	0	1	415	214	8	2		2	AHNAK2	14	105408030	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	232	105408030	1941510	7534	12642			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408182	105408182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggccggctacctcgggcaTgtggccttctggaagtttca	14	11	2	0	rs9672139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408182T>G	ENST00000333244.5	-	7	13725	c.13606A>C	c.(13606-13608)Atg>Ctg	p.M4536L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4536			M -> L (in dbSNP:rs9672139).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCGGGCATGTGGCCTTCT	0.627													-|||	2642	0.527556	0.6331	0.4942	5008	,	,		18365	0.3899		0.498	False		,,,				2504	0.5808				p.M4536L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A13606C						PASS	.	T	LEU/MET	2503,1327		823,857,235	106	117	113		13606	-7.1	0	14	dbSNP_119	113	4184,4032		1074,2036,998	no	missense	AHNAK2	NM_138420.2	15	1897,2893,1233	GG,GT,TT		49.075,34.6475,44.4878	benign	4536/5796	105408182	6687,5359	1915	4108	6023	SO:0001583	missense	113146	exon7			CGGGCATGTGGCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13606A>C	14.37:g.105408182T>G	ENSP00000353114:p.Met4536Leu	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	181	180	0.994475	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1093	0.5004578754578755	314	0.6382113821138211	193	0.5331491712707183	204	0.35664335664335667	382	0.503957783641161	T	0.045	-1.271138	0.01421	0.653525	0.50925	ENSG00000185567	ENST00000333244	T	0.01145	5.27	3.56	-7.11	0.01542	.	1.407470	0.05982	U	0.644448	T	0.00012	0.0000	N	0.11255	0.115	0.80722	P	0.0	B	0.14438	0.01	B	0.18561	0.022	T	0.30446	-0.9978	9	0.07813	T	0.8	.	7.3918	0.26913	0.0:0.2516:0.4512:0.2972	rs9672139;rs9672139	4536	Q8IVF2	AHNK2_HUMAN	L	4536	ENSP00000353114:M4536L	ENSP00000353114:M4536L	M	-	1	0	AHNAK2	104479227	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.072000	0.00154	-3.139000	0.00234	-0.760000	0.03462	ATG	T|0.501;G|0.499	0.499	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408182	T	G	105408182	3	3	22	1	0	0	0	0	1	0	0	0	415	1464	51	5	3785	5	AHNAK2	14	105408182	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	152	105408182	1941358	7535	12643			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408315	105408315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgtcggcctccatcttTggcgcagacacatccaccga	8	16	2	1	rs28600075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408315T>C	ENST00000333244.5	-	7	13592	c.13473A>G	c.(13471-13473)ccA>ccG	p.P4491P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4491						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCATCTTTGGCGCAGACA	0.577													-|||	2782	0.555511	0.646	0.5115	5008	,	,		20612	0.4117		0.5338	False		,,,				2504	0.635				p.P4491P		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A13473G						PASS	.	C		2760,1322		941,878,222	158	166	163		13473	-1.1	0	14	dbSNP_125	163	4533,3827		1246,2041,893	no	coding-synonymous	AHNAK2	NM_138420.2		2187,2919,1115	CC,CT,TT		45.7775,32.3861,41.384		4491/5796	105408315	7293,5149	2041	4180	6221	SO:0001819	synonymous_variant	113146	exon7			CATCTTTGGCGCA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13473A>G	14.37:g.105408315T>C		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	249	249	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.466;C|0.534	0.534	strong		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105408315	T	C	105408315	2	2	22	1	0	0	0	0	0	0	0	1	415	1799	63	2		2	AHNAK2	14	105408315	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	133	105408315	1941225	7536	12644			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408811	105408811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacgtcagcctccaccttcAgcgcagacacatccaacgag	7	17	3	1	rs2819421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408811A>G	ENST00000333244.5	-	7	13096	c.12977T>C	c.(12976-12978)cTg>cCg	p.L4326P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4326			L -> P (in dbSNP:rs2819421).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCACCTTCAGCGCAGACAC	0.597													G|||	2780	0.555112	0.6679	0.513	5008	,	,		19403	0.38		0.5338	False		,,,				2504	0.635				p.L4326P		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T12977C						PASS	.	G	PRO/LEU	2635,1275		874,887,194	157	171	166		12977	1.4	0	14	dbSNP_100	166	4459,3815		1220,2019,898	no	missense	AHNAK2	NM_138420.2	98	2094,2906,1092	GG,GA,AA		46.1083,32.6087,41.7761	benign	4326/5796	105408811	7094,5090	1955	4137	6092	SO:0001583	missense	113146	exon7			ACCTTCAGCGCAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12977T>C	14.37:g.105408811A>G	ENSP00000353114:p.Leu4326Pro	Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	238	108	0.453782	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1044	0.47802197802197804	310	0.6300813008130082	185	0.511049723756906	183	0.31993006993006995	366	0.48284960422163586	a	7.511	0.654684	0.14580	0.673913	0.538917	ENSG00000185567	ENST00000333244	T	0.00479	7.12	3.31	1.41	0.22369	.	0.000000	0.36200	N	0.002733	T	0.00012	0.0000	N	0.00007	-3.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17684	-1.0361	9	0.15952	T	0.53	.	8.0779	0.30726	0.2793:0.0:0.7207:0.0	rs2819421	4326	Q8IVF2	AHNK2_HUMAN	P	4326	ENSP00000353114:L4326P	ENSP00000353114:L4326P	L	-	2	0	AHNAK2	104479856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.284000	0.18864	-0.311000	0.08754	-0.665000	0.03846	CTG	A|0.505;G|0.495	0.495	strong		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408811	A	G	105408811	3	3	22	1	0	0	0	0	1	0	0	0	415	188	7	3	4414	3	AHNAK2	14	105408811	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	496	105408811	1940729	7537	12645			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408827	105408827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcagcgcagacacatccaAcgaggcctcgatggacttgc	10	14	1	1	rs11850949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408827A>C	ENST00000333244.5	-	7	13080	c.12961T>G	c.(12961-12963)Ttg>Gtg	p.L4321V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4321						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACACATCCAACGAGGCCTCG	0.587													A|||	2658	0.530751	0.5741	0.5086	5008	,	,		20106	0.378		0.5378	False		,,,				2504	0.638				p.L4321V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T12961G						PASS	.	A	VAL/LEU	2396,1520		731,934,293	181	195	191		12961	-6.6	0	14	dbSNP_120	191	4450,3822		1225,2000,911	no	missense	AHNAK2	NM_138420.2	32	1956,2934,1204	CC,CA,AA		46.2041,38.8151,43.83	benign	4321/5796	105408827	6846,5342	1958	4136	6094	SO:0001583	missense	113146	exon7			CATCCAACGAGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12961T>G	14.37:g.105408827A>C	ENSP00000353114:p.Leu4321Val	Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	254	113	0.444882	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1007	0.4610805860805861	261	0.5304878048780488	186	0.5138121546961326	178	0.3111888111888112	382	0.503957783641161	a	4.408	0.075405	0.08485	0.611849	0.537959	ENSG00000185567	ENST00000333244	T	0.01933	4.55	3.31	-6.62	0.01813	.	0.941667	0.08520	N	0.933571	T	0.00012	0.0000	N	0.02275	-0.615	0.58432	P	2.9999999999752447E-6	P	0.34629	0.46	B	0.40375	0.327	T	0.42015	-0.9476	9	0.05525	T	0.97	.	3.6938	0.08357	0.2186:0.4052:0.2895:0.0867	rs11850949	4321	Q8IVF2	AHNK2_HUMAN	V	4321	ENSP00000353114:L4321V	ENSP00000353114:L4321V	L	-	1	2	AHNAK2	104479872	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.122000	0.03267	-3.473000	0.00156	-2.694000	0.00139	TTG	A|0.540;C|0.460	0.460	strong		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105408827	A	C	105408827	3	2	22	1	0	0	0	0	1	0	0	0	415	40	2	5	4430	5	AHNAK2	14	105408827	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	105408827	1940713	7538	12646			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105408955	105408955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggtcaccctccagccgcAcactgtccagcttggctccc	8	19	1	0	rs2819422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105408955A>G	ENST00000333244.5	-	7	12952	c.12833T>C	c.(12832-12834)gTg>gCg	p.V4278A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4278			V -> A (in dbSNP:rs2819422).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGCCGCACACTGTCCAG	0.607													G|||	2908	0.580671	0.7375	0.5187	5008	,	,		19583	0.4127		0.5338	False		,,,				2504	0.6339				p.V4278A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T12833C						PASS	.	G	ALA/VAL	2954,1074		1076,802,136	151	168	162		12833	-0.3	0	14	dbSNP_100	162	4512,3804		1234,2044,880	no	missense	AHNAK2	NM_138420.2	64	2310,2846,1016	GG,GA,AA		45.7431,26.6634,39.5172	benign	4278/5796	105408955	7466,4878	2014	4158	6172	SO:0001583	missense	113146	exon7			AGCCGCACACTGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12833T>C	14.37:g.105408955A>G	ENSP00000353114:p.Val4278Ala	Somatic	267	1	0.00374532		WXS	Illumina HiSeq	Phase_I	303	301	0.993399	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1193	0.5462454212454212	369	0.75	201	0.5552486187845304	221	0.38636363636363635	402	0.5303430079155673	a	0	-2.656781	0.00108	0.733366	0.542569	ENSG00000185567	ENST00000333244	T	0.01178	5.22	0.177	-0.353	0.12594	.	.	.	.	.	T	0.00012	0.0000	N	0.11023	0.085	0.80722	P	0.0	B	0.02656	0.0	B	0.11329	0.006	T	0.41752	-0.9491	7	0.07990	T	0.79	.	.	.	.	rs2819422;rs59931905;rs2819422	4278	Q8IVF2	AHNK2_HUMAN	A	4278	ENSP00000353114:V4278A	ENSP00000353114:V4278A	V	-	2	0	AHNAK2	104480000	0.705000	0.27846	0.005000	0.12908	0.001000	0.01503	1.298000	0.33412	-2.385000	0.00590	-2.426000	0.00216	GTG	A|0.462;G|0.538	0.538	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408955	A	G	105408955	3	3	22	1	0	0	0	0	1	0	0	0	415	159	6	2	4558	2	AHNAK2	14	105408955	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	128	105408955	1940585	7539	12647			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105409959	105409959	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgcgcaccatccagcttGgctcctggggcctcgacgtc	12	17	0	0	rs10152073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105409959G>T	ENST00000333244.5	-	7	11948	c.11829C>A	c.(11827-11829)gcC>gcA	p.A3943A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3943						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCAGCTTGGCTCCTGGGG	0.607													.|||	2776	0.554313	0.6369	0.5144	5008	,	,		19904	0.4117		0.5358	False		,,,				2504	0.637				p.A3943A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C11829A						PASS	.	G		2672,1306		899,874,216	166	178	174		11829	-0.5	0.1	14	dbSNP_119	174	4511,3785		1241,2029,878	no	coding-synonymous	AHNAK2	NM_138420.2		2140,2903,1094	TT,TG,GG		45.6244,32.8306,41.4779		3943/5796	105409959	7183,5091	1989	4148	6137	SO:0001819	synonymous_variant	113146	exon7			CAGCTTGGCTCCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11829C>A	14.37:g.105409959G>T		Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	318	317	0.996855	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.467;T|0.533	0.533	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105409959	G	T	105409959	2	4	22	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105409959	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1004	105409959	1939581	7540	12648			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105410183	105410183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggccctccaggagtttcaTgtccacctggcgagcttgga	13	12	1	0	rs10438246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105410183T>C	ENST00000333244.5	-	7	11724	c.11605A>G	c.(11605-11607)Atg>Gtg	p.M3869V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3869			M -> V (in dbSNP:rs10438246).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGTTTCATGTCCACCTGG	0.602													.|||	2784	0.555911	0.643	0.5144	5008	,	,		18090	0.4127		0.5348	False		,,,				2504	0.637				p.M3869V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A11605G						PASS	.	C	VAL/MET	2678,1266		920,838,214	130	137	135		11605	-2	0	14	dbSNP_119	135	4528,3782		1252,2024,879	yes	missense	AHNAK2	NM_138420.2	21	2172,2862,1093	CC,CT,TT		45.5114,32.0994,41.1947	benign	3869/5796	105410183	7206,5048	1972	4155	6127	SO:0001583	missense	113146	exon7			GTTTCATGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11605A>G	14.37:g.105410183T>C	ENSP00000353114:p.Met3869Val	Somatic	248	1	0.00403226		WXS	Illumina HiSeq	Phase_I	254	254	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1148	0.5256410256410257	324	0.6585365853658537	200	0.5524861878453039	222	0.3881118881118881	402	0.5303430079155673	t	0.010	-1.780679	0.00634	0.679006	0.544886	ENSG00000185567	ENST00000333244	T	0.00882	5.58	3.67	-2.03	0.07365	.	.	.	.	.	T	0.00012	0.0000	N	0.00985	-1.075	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.01834	-1.1264	8	0.12430	T	0.62	.	6.3549	0.21397	0.0:0.5117:0.1168:0.3714	rs10438246;rs59225031;rs10438246	3869	Q8IVF2	AHNK2_HUMAN	V	3869	ENSP00000353114:M3869V	ENSP00000353114:M3869V	M	-	1	0	AHNAK2	104481228	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-0.909000	0.03852	-2.717000	0.00132	ATG	T|0.456;C|0.544	0.544	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105410183	T	C	105410183	3	2	22	1	0	0	0	0	1	0	0	0	415	1464	51	2	5786	2	AHNAK2	14	105410183	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	224	105410183	1939357	7541	12649			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105410411	105410411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggcagtcacatccttgtCggccagggacaggtccccct	11	14	1	0	rs11160825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105410411C>T	ENST00000333244.5	-	7	11496	c.11377G>A	c.(11377-11379)Gac>Aac	p.D3793N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3793			D -> N (in dbSNP:rs11160825).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCTTGTCGGCCAGGGAC	0.582													.|||	2753	0.54972	0.6263	0.513	5008	,	,		20636	0.4087		0.5348	False		,,,				2504	0.6329				p.D3793N		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G11377A						PASS	.	C	ASN/ASP	2639,1357		869,901,228	222	222	222		11377	1.4	0	14	dbSNP_120	222	4517,3807		1234,2049,879	no	missense	AHNAK2	NM_138420.2	23	2103,2950,1107	TT,TC,CC		45.7352,33.959,41.9156	possibly-damaging	3793/5796	105410411	7156,5164	1998	4162	6160	SO:0001583	missense	113146	exon7			CCTTGTCGGCCAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11377G>A	14.37:g.105410411C>T	ENSP00000353114:p.Asp3793Asn	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	252	250	0.992063	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1124	0.5146520146520146	309	0.6280487804878049	198	0.5469613259668509	215	0.3758741258741259	402	0.5303430079155673	c	10.26	1.302009	0.23736	0.66041	0.542648	ENSG00000185567	ENST00000333244	T	0.01821	4.62	4.3	1.37	0.22104	.	0.737133	0.10693	N	0.644947	T	0.00012	0.0000	M	0.84683	2.71	0.80722	P	0.0	P	0.42871	0.792	B	0.31191	0.125	T	0.08513	-1.0718	9	0.29301	T	0.29	.	6.6598	0.23009	0.0:0.5148:0.3818:0.1034	rs11160825	3793	Q8IVF2	AHNK2_HUMAN	N	3793	ENSP00000353114:D3793N	ENSP00000353114:D3793N	D	-	1	0	AHNAK2	104481456	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.050000	0.14120	-0.025000	0.13918	-1.582000	0.00854	GAC	C|0.480;T|0.520	0.520	strong		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105410411	C	T	105410411	3	4	22	1	0	0	0	0	1	0	0	0	415	884	31	1	6014	1	AHNAK2	14	105410411	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	228	105410411	1939129	7542	12650			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105410775	105410775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatggaggggagactcacAtcggcttccaccttgggtgc	14	11	1	1	rs2819424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105410775A>G	ENST00000333244.5	-	7	11132	c.11013T>C	c.(11011-11013)gaT>gaC	p.D3671D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3671						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGACTCACATCGGCTTCCA	0.582													.|||	2934	0.585863	0.7526	0.5202	5008	,	,		17655	0.4137		0.5358	False		,,,				2504	0.636				p.D3671D		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T11013C						PASS	.	G		2883,987		1074,735,126	142	150	147		11013	-7.9	0	14	dbSNP_100	147	4492,3782		1231,2030,876	no	coding-synonymous	AHNAK2	NM_138420.2		2305,2765,1002	GG,GA,AA		45.7095,25.5039,39.2704		3671/5796	105410775	7375,4769	1935	4137	6072	SO:0001819	synonymous_variant	113146	exon7			ACTCACATCGGCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11013T>C	14.37:g.105410775A>G		Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	258	257	0.996124	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.444;G|0.556	0.556	strong		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105410775	A	G	105410775	2	3	22	1	0	0	0	0	0	0	0	1	415	214	8	2		2	AHNAK2	14	105410775	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	364	105410775	1938765	7543	12651			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105410827	105410827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgaggcctccatggacttcCctggggccgataccctgaat	11	15	0	1	rs28380382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105410827C>T	ENST00000333244.5	-	7	11080	c.10961G>A	c.(10960-10962)gGg>gAg	p.G3654E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3654			G -> E (in dbSNP:rs28380382).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGGACTTCCCTGGGGCCGA	0.577													.|||	2767	0.552516	0.6316	0.513	5008	,	,		19166	0.4127		0.5348	False		,,,				2504	0.636				p.G3654E		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G10961A						PASS	.	C	GLU/GLY	2649,1289		906,837,226	171	182	178		10961	0.8	0	14	dbSNP_125	178	4501,3781		1240,2021,880	no	missense	AHNAK2	NM_138420.2	98	2146,2858,1106	TT,TC,CC		45.6532,32.7324,41.4894	probably-damaging	3654/5796	105410827	7150,5070	1969	4141	6110	SO:0001583	missense	113146	exon7			GACTTCCCTGGGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10961G>A	14.37:g.105410827C>T	ENSP00000353114:p.Gly3654Glu	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	272	272	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1144	0.5238095238095238	320	0.6504065040650406	199	0.5497237569060773	223	0.38986013986013984	402	0.5303430079155673	c	13.14	2.147422	0.37923	0.672676	0.543468	ENSG00000185567	ENST00000333244	T	0.02525	4.26	3.77	0.827	0.18835	.	.	.	.	.	T	0.00012	0.0000	M	0.86028	2.79	0.80722	P	0.0	B	0.33044	0.395	B	0.33121	0.158	T	0.50491	-0.8822	8	0.02654	T	1	.	1.7266	0.02923	0.1685:0.4793:0.1636:0.1885	rs28380382;rs59092583	3654	Q8IVF2	AHNK2_HUMAN	E	3654	ENSP00000353114:G3654E	ENSP00000353114:G3654E	G	-	2	0	AHNAK2	104481872	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.015000	0.14150	-0.326000	0.08463	GGG	C|0.468;T|0.532	0.532	strong		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105410827	C	T	105410827	3	4	22	1	0	0	0	0	1	0	0	0	415	623	22	2	6430	2	AHNAK2	14	105410827	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52	105410827	1938713	7544	12652			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411091	105411091	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgaggtccactttgggcGtctttaaactgggcatctcc					rs143814844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105411091G>A	ENST00000333244.5	-	7	10816	c.10697C>T	c.(10696-10698)aCg>aTg	p.T3566M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3566						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T3566M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACTTTGGGCGTCTTTAAACT	0.612													.|||	367	0.0732827	0.267	0.0173	5008	,	,		17318	0.0		0.002	False		,,,				2504	0.0				p.T3566M		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	1	Substitution - Missense(1)	prostate(1)	c.C10697T						PASS	.	A	MET/THR	783,2917		107,569,1174	98	113	108		10697	1.6	0	14	dbSNP_134	108	10,8158		0,10,4074	no	missense	AHNAK2	NM_138420.2	81	107,579,5248	AA,AG,GG		0.1224,21.1622,6.6818	benign	3566/5796	105411091	793,11075	1850	4084	5934	SO:0001583	missense	113146	exon7			TTGGGCGTCTTTA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10697C>T	14.37:g.105411091G>A	ENSP00000353114:p.Thr3566Met	Somatic	241	2	0.00829876		WXS	Illumina HiSeq	Phase_I	257	254	0.988327	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	80	0.03663003663003663	75	0.1524390243902439	5	0.013812154696132596	0	0.0	0	0.0	a	2.924	-0.222471	0.06061	0.211622	0.001224	ENSG00000185567	ENST00000333244	T	0.00745	5.75	4.06	1.63	0.23807	.	1.601890	0.05251	U	0.513995	T	0.00012	0.0000	N	0.00086	-2.195	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39461	-0.9613	9	0.33940	T	0.23	.	4.4622	0.11671	0.5589:0.1614:0.2797:0.0	rs2819442	3566	Q8IVF2	AHNK2_HUMAN	M	3566	ENSP00000353114:T3566M	ENSP00000353114:T3566M	T	-	2	0	AHNAK2	104482136	0.000000	0.05858	0.042000	0.18584	0.008000	0.06430	-0.778000	0.04664	-0.237000	0.09739	-1.140000	0.01884	ACG	G|0.971;A|0.029	0.029	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105411091	G	A	105411091	3	1	22	1	0	0	0	0	1	0	0	0	415	1145	40	1	6694	1	AHNAK2	14	105411091	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	264	105411091	1938449	7545	12653	261	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411096	105411096	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtccactttgggcgtcttTaaactgggcatctccacttt					rs146355838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105411096T>G	ENST00000333244.5	-	7	10811	c.10692A>C	c.(10690-10692)ttA>ttC	p.L3564F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3564						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCGTCTTTAAACTGGGCA	0.612													.|||	364	0.0726837	0.2648	0.0173	5008	,	,		17395	0.0		0.002	False		,,,				2504	0.0				p.L3564F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A10692C						PASS	.	T	PHE/LEU	745,2943		103,539,1202	98	113	108		10692	-0.5	0.1	14	dbSNP_134	108	9,8157		0,9,4074	no	missense	AHNAK2	NM_138420.2	22	103,548,5276	GG,GT,TT		0.1102,20.2007,6.3607	possibly-damaging	3564/5796	105411096	754,11100	1844	4083	5927	SO:0001583	missense	113146	exon7			CGTCTTTAAACTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10692A>C	14.37:g.105411096T>G	ENSP00000353114:p.Leu3564Phe	Somatic	238	2	0.00840336		WXS	Illumina HiSeq	Phase_I	254	252	0.992126	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	79	0.036172161172161175	74	0.15040650406504066	5	0.013812154696132596	0	0.0	0	0.0	t	0.125	-1.120104	0.01785	0.202007	0.001102	ENSG00000185567	ENST00000333244	T	0.01034	5.42	3.75	-0.46	0.12175	.	.	.	.	.	T	0.00012	0.0000	N	0.01086	-1.025	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.38373	-0.9664	8	0.39692	T	0.17	.	3.0553	0.06182	0.0902:0.143:0.3249:0.4419	.	3564	Q8IVF2	AHNK2_HUMAN	F	3564	ENSP00000353114:L3564F	ENSP00000353114:L3564F	L	-	3	2	AHNAK2	104482141	0.002000	0.14202	0.063000	0.19743	0.003000	0.03518	-0.991000	0.03728	-0.179000	0.10654	-3.555000	0.00030	TTA	T|0.971;G|0.029	0.029	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105411096	T	G	105411096	3	3	22	1	0	0	0	0	1	0	0	0	415	1751	61	5	6699	5	AHNAK2	14	105411096	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	105411096	1938444	7546	12654	261	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411700	105411700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctggacctccaggtccAcagaagggagctgaatgctg	13	12	0	2	rs4264326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105411700A>G	ENST00000333244.5	-	7	10207	c.10088T>C	c.(10087-10089)gTg>gCg	p.V3363A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3363			V -> A (in dbSNP:rs4264326).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V3363A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGGTCCACAGAAGGGAG	0.662													.|||	2822	0.563498	0.6762	0.513	5008	,	,		18019	0.4137		0.5338	False		,,,				2504	0.6319				p.V3363A		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,2	AHNAK2	719	2	1	Substitution - Missense(1)	prostate(1)	c.T10088C						PASS	.	G	ALA/VAL	2793,1165		993,807,179	122	132	129		10088	3.1	0	14	dbSNP_111	129	4513,3781		1239,2035,873	no	missense	AHNAK2	NM_138420.2	64	2232,2842,1052	GG,GA,AA		45.5872,29.4341,40.3689	benign	3363/5796	105411700	7306,4946	1979	4147	6126	SO:0001583	missense	113146	exon7			AGGTCCACAGAAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10088T>C	14.37:g.105411700A>G	ENSP00000353114:p.Val3363Ala	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	248	247	0.995968	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1182	0.5412087912087912	357	0.725609756097561	201	0.5552486187845304	225	0.39335664335664333	399	0.5263852242744064	N	0.218	-1.031006	0.02029	0.705659	0.544128	ENSG00000185567	ENST00000333244	T	0.01159	5.25	4.12	3.13	0.36017	.	2587.460000	0.00357	N	0.000031	T	0.00012	0.0000	N	0.02345	-0.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	9	0.07990	T	0.79	.	5.2812	0.15676	0.2694:0.0:0.7306:0.0	rs4264326	3363	Q8IVF2	AHNK2_HUMAN	A	3363	ENSP00000353114:V3363A	ENSP00000353114:V3363A	V	-	2	0	AHNAK2	104482745	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.238000	0.02919	0.977000	0.38444	-0.320000	0.08662	GTG	A|0.454;G|0.546	0.546	strong		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105411700	A	G	105411700	3	3	22	1	0	0	0	0	1	0	0	0	415	159	6	2	7303	2	AHNAK2	14	105411700	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	604	105411700	1937840	7547	12655			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411781	105411781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacgtcggcctccgccttcGgcgcagacacatccaccgag	10	18	1	1	rs10438247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105411781G>A	ENST00000333244.5	-	7	10126	c.10007C>T	c.(10006-10008)cCg>cTg	p.P3336L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3336			P -> L (in dbSNP:rs10438247).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCGCCTTCGGCGCAGACAC	0.607													.|||	2697	0.538538	0.5855	0.5101	5008	,	,		20068	0.4137		0.5318	False		,,,				2504	0.6309				p.P3336L		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.C10007T						PASS	.	G	LEU/PRO	2594,1378		876,842,268	147	150	149		10007	2.9	0	14	dbSNP_119	149	4525,3787		1252,2021,883	no	missense	AHNAK2	NM_138420.2	98	2128,2863,1151	AA,AG,GG		45.5606,34.6928,42.0466	probably-damaging	3336/5796	105411781	7119,5165	1986	4156	6142	SO:0001583	missense	113146	exon7			GCCTTCGGCGCAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10007C>T	14.37:g.105411781G>A	ENSP00000353114:p.Pro3336Leu	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	323	322	0.996904	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1116	0.510989010989011	298	0.6056910569105691	196	0.5414364640883977	221	0.38636363636363635	401	0.5290237467018469	g	17.20	3.329313	0.60743	0.653072	0.544394	ENSG00000185567	ENST00000333244	T	0.03094	4.05	3.83	2.91	0.33838	.	.	.	.	.	T	0.00012	0.0000	H	0.94808	3.585	0.80722	P	0.0	D	0.76494	0.999	D	0.62955	0.909	T	0.24404	-1.0161	8	0.52906	T	0.07	.	12.5658	0.56308	0.0:0.0:0.8325:0.1675	.	3336	Q8IVF2	AHNK2_HUMAN	L	3336	ENSP00000353114:P3336L	ENSP00000353114:P3336L	P	-	2	0	AHNAK2	104482826	0.303000	0.24463	0.001000	0.08648	0.002000	0.02628	2.160000	0.42348	0.789000	0.33779	0.491000	0.48974	CCG	G|0.479;A|0.521	0.521	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105411781	G	A	105411781	3	1	22	1	0	0	0	0	1	0	0	0	415	1116	39	1	7384	1	AHNAK2	14	105411781	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81	105411781	1937759	7548	12656			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411852	105411852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtacgacggcatcttgaaTttgggcattttgaacttgct	10	8	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105411852T>C	ENST00000333244.5	-	7	10055	c.9936A>G	c.(9934-9936)aaA>aaG	p.K3312K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3312						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAATTTGGGCATTT	0.622																																					p.K3312K		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,1	AHNAK2	719	1	0			c.A9936G						scavenged	.						205	199	201					14																	105411852		2003	4164	6167	SO:0001819	synonymous_variant	113146	exon7			CTTGAATTTGGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9936A>G	14.37:g.105411852T>C		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	298	7	0.0234899	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411852	T	C	105411852	2	2	22	1	0	0	0	0	0	0	0	1	415	1490	52	2		2	AHNAK2	14	105411852	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	71	105411852	1937688	7549	12657			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412005	105412005	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacgtcgggggccgtcacAtccatcttcgggcctttcag					rs28564728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412005A>G	ENST00000333244.5	-	7	9902	c.9783T>C	c.(9781-9783)gaT>gaC	p.D3261D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3261						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCGTCACATCCATCTTCG	0.612													.|||	1867	0.372804	0.3744	0.3775	5008	,	,		15923	0.1687		0.494	False		,,,				2504	0.453				p.D3261D		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T9783C						PASS	.	T		534,3168		41,452,1358	98	73	81		9783	-1.4	0	14	dbSNP_125	81	2628,5254		702,1224,2015	no	coding-synonymous	AHNAK2	NM_138420.2		743,1676,3373	GG,GA,AA		33.3418,14.4246,27.2963		3261/5796	105412005	3162,8422	1851	3941	5792	SO:0001819	synonymous_variant	113146	exon7			CGTCACATCCATC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9783T>C	14.37:g.105412005A>G		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	314	60	0.191083	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.449;G|0.551	0.551	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412005	A	G	105412005	2	3	22	1	0	0	0	0	0	0	0	1	415	214	8	2		2	AHNAK2	14	105412005	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	153	105412005	1937535	7550	12658	262	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412009	105412009	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcgggggccgtcacatccAtcttcgggcctttcaggtcc					rs28714612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412009A>G	ENST00000333244.5	-	7	9898	c.9779T>C	c.(9778-9780)aTg>aCg	p.M3260T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3260						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCACATCCATCTTCGGGCC	0.617													.|||	1929	0.385184	0.3896	0.389	5008	,	,		16305	0.1905		0.496	False		,,,				2504	0.4632				p.M3260T		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,neuroblastoma,0,2	AHNAK2	719	2	0			c.T9779C						PASS	.						100	73	82					14																	105412009		1854	4017	5871	SO:0001583	missense	113146	exon7			ACATCCATCTTCG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9779T>C	14.37:g.105412009A>G	ENSP00000353114:p.Met3260Thr	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	324	69	0.212963	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	1.452	-0.564730	0.03939	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.09	-4.72	0.03269	.	.	.	.	.	T	0.00580	0.0019	N	0.16368	0.405	0.80722	P	0.0	B	0.10296	0.003	B	0.01281	0.0	T	0.45542	-0.9254	8	0.14252	T	0.57	.	3.5943	0.08000	0.4733:0.1389:0.3022:0.0856	rs28714612	3260	Q8IVF2	AHNK2_HUMAN	T	3260	ENSP00000353114:M3260T	ENSP00000353114:M3260T	M	-	2	0	AHNAK2	104483054	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.604000	0.36804	-1.025000	0.03334	-3.622000	0.00027	ATG	A|0.454;G|0.546	0.546	strong		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412009	A	G	105412009	3	3	22	1	0	0	0	0	1	0	0	0	415	217	8	2	7612	2	AHNAK2	14	105412009	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4	105412009	1937531	7551	12659	262	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412066	105412066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctatctgggggcccttgCgatctactttgggcatcttg	12	10	4	0	rs77154428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412066C>T	ENST00000333244.5	-	7	9841	c.9722G>A	c.(9721-9723)cGc>cAc	p.R3241H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3241						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGCCCTTGCGATCTACTTT	0.607																																					p.R3241H		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,2	AHNAK2	719	2	0			c.G9722A						scavenged	.						130	94	105					14																	105412066		1876	4070	5946	SO:0001583	missense	113146	exon7			CCCTTGCGATCTA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9722G>A	14.37:g.105412066C>T	ENSP00000353114:p.Arg3241His	Somatic	252	3	0.0119048		WXS	Illumina HiSeq	Phase_I	368	135	0.366848	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	936	0.42857142857142855	224	0.45528455284552843	165	0.4558011049723757	168	0.2937062937062937	379	0.5	c	2.256	-0.370373	0.05069	.	.	ENSG00000185567	ENST00000333244	T	0.00678	5.87	2.75	1.55	0.23275	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.42908	0.793	B	0.23716	0.048	T	0.00004	-1.2570	8	0.25106	T	0.35	.	8.4104	0.32640	0.7997:0.2003:0.0:0.0	.	3241	Q8IVF2	AHNK2_HUMAN	H	3241	ENSP00000353114:R3241H	ENSP00000353114:R3241H	R	-	2	0	AHNAK2	104483111	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.432000	0.21461	0.248000	0.21435	-0.842000	0.03052	CGC	C|0.547;T|0.453	0.453	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412066	C	T	105412066	3	4	22	1	0	0	0	0	1	0	0	0	415	768	27	1	7669	1	AHNAK2	14	105412066	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57	105412066	1937474	7552	12660			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412138	105412138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgaggccagctccctcgAgaacgtggccctctgggagc	13	14	1	2	rs200384326		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412138A>G	ENST00000333244.5	-	7	9769	c.9650T>C	c.(9649-9651)cTc>cCc	p.L3217P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTCCCTCGAGAACGTGGCC	0.602																																					p.L3217P		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,neuroblastoma,0,1	AHNAK2	719	1	0			c.T9650C						PASS	.						112	72	85					14																	105412138		1914	4004	5918	SO:0001583	missense	113146	exon7			CCCTCGAGAACGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9650T>C	14.37:g.105412138A>G	ENSP00000353114:p.Leu3217Pro	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	335	30	0.0895522	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.736	-0.263306	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.00554	6.64	2.59	2.59	0.31030	.	.	.	.	.	T	0.00178	0.0005	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	8	0.30078	T	0.28	.	5.3502	0.16032	0.1716:0.0:0.8284:0.0	.	3217	Q8IVF2	AHNK2_HUMAN	P	3217	ENSP00000353114:L3217P	ENSP00000353114:L3217P	L	-	2	0	AHNAK2	104483183	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.587000	0.05780	0.297000	0.22615	-0.971000	0.02607	CTC	.	.	weak		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412138	A	G	105412138	3	3	22	1	0	0	0	0	1	0	0	0	415	304	11	3	7741	3	AHNAK2	14	105412138	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72	105412138	1937402	7553	12661			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412259	105412259	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcatggaggggaggctcaGgtcggcctccacctttggcg					rs2819426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412259G>C	ENST00000333244.5	-	7	9648	c.9529C>G	c.(9529-9531)Ctg>Gtg	p.L3177V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3177			L -> V (in dbSNP:rs2819426).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGGCTCAGGTCGGCCTCC	0.602													.|||	2168	0.432907	0.6536	0.3487	5008	,	,		14725	0.3552		0.2654	False		,,,				2504	0.4468				p.L3177V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C9529G						PASS	.	C	VAL/LEU	2252,1580		807,638,471	146	117	127		9529	1.8	0	14	dbSNP_100	127	916,6182		218,480,2851	no	missense	AHNAK2	NM_138420.2	32	1025,1118,3322	CC,CG,GG		12.905,41.2317,28.9844	benign	3177/5796	105412259	3168,7762	1916	3549	5465	SO:0001583	missense	113146	exon7			GGCTCAGGTCGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9529C>G	14.37:g.105412259G>C	ENSP00000353114:p.Leu3177Val	Somatic	393	0	0		WXS	Illumina HiSeq	Phase_I	393	392	0.997455	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	748	0.3424908424908425	278	0.5650406504065041	135	0.3729281767955801	160	0.27972027972027974	175	0.23087071240105542	c	0.005	-2.226234	0.00283	0.587683	0.12905	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.74	1.81	0.25067	.	.	.	.	.	T	0.00012	0.0000	N	0.00424	-1.51	0.80722	P	0.0	B	0.12630	0.006	B	0.10450	0.005	T	0.10730	-1.0617	8	0.06236	T	0.91	.	3.2516	0.06816	0.1662:0.4128:0.324:0.0971	rs60311708	3177	Q8IVF2	AHNK2_HUMAN	V	3177	ENSP00000353114:L3177V	ENSP00000353114:L3177V	L	-	1	2	AHNAK2	104483304	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.764000	0.00784	-0.043000	0.13513	-0.671000	0.03813	CTG	G|0.657;C|0.343	0.343	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105412259	G	C	105412259	3	2	22	1	0	0	0	0	1	0	0	0	415	991	35	4	7862	4	AHNAK2	14	105412259	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121	105412259	1937281	7554	12662	263	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412260	105412260	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatggaggggaggctcagGtcggcctccacctttggcgc					rs11160826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412260G>C	ENST00000333244.5	-	7	9647	c.9528C>G	c.(9526-9528)gaC>gaG	p.D3176E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3176			D -> E (in dbSNP:rs11160826).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGGCTCAGGTCGGCCTCCA	0.602																																					p.D3176E		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C9528G						PASS	.	G	GLU/ASP	1884,1948		634,616,666	148	117	128		9528	-5.5	0	14	dbSNP_120	128	572,6538		182,208,3165	no	missense	AHNAK2	NM_138420.2	45	816,824,3831	CC,CG,GG		8.045,49.1649,22.4456	possibly-damaging	3176/5796	105412260	2456,8486	1916	3555	5471	SO:0001583	missense	113146	exon7			GCTCAGGTCGGCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9528C>G	14.37:g.105412260G>C	ENSP00000353114:p.Asp3176Glu	Somatic	391	0	0		WXS	Illumina HiSeq	Phase_I	393	382	0.97201	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	483	0.22115384615384615	203	0.41260162601626016	88	0.2430939226519337	155	0.270979020979021	37	0.048812664907651716	g	0.111	-1.138293	0.01742	0.491649	0.08045	ENSG00000185567	ENST00000333244	T	0.02050	4.48	2.74	-5.48	0.02592	.	.	.	.	.	T	0.00012	0.0000	L	0.39397	1.21	0.80722	P	0.0	P	0.40619	0.724	B	0.34452	0.183	T	0.29181	-1.0020	8	0.18276	T	0.48	.	7.5023	0.27524	0.1682:0.1939:0.5589:0.0791	rs11160826;rs58738060	3176	Q8IVF2	AHNK2_HUMAN	E	3176	ENSP00000353114:D3176E	ENSP00000353114:D3176E	D	-	3	2	AHNAK2	104483305	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.560000	0.00215	-2.504000	0.00508	-2.640000	0.00151	GAC	G|0.779;C|0.221	0.221	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105412260	G	C	105412260	3	2	22	1	0	0	0	0	1	0	0	0	415	1252	44	4	7863	4	AHNAK2	14	105412260	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	105412260	1937280	7555	12663	263	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412541	105412541	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccagcttggggcccttgaCatctatctggggtcccttgc					rs386781092|rs12433837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412541C>T	ENST00000333244.5	-	7	9366	c.9247G>A	c.(9247-9249)Gtc>Atc	p.V3083I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3083						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGACATCTATCTGG	0.627													.|||	2597	0.51857	0.5855	0.4669	5008	,	,		14076	0.3978		0.4871	False		,,,				2504	0.6217				p.V3083I		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G9247A						PASS	.	C	ILE/VAL	1179,2461		500,179,1141	65	75	72		9247	-7.4	0	14	dbSNP_120	72	1915,6185		820,275,2955	no	missense	AHNAK2	NM_138420.2	29	1320,454,4096	TT,TC,CC		23.642,32.3901,26.3543	benign	3083/5796	105412541	3094,8646	1820	4050	5870	SO:0001583	missense	113146	exon7			CCTTGACATCTAT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9247G>A	14.37:g.105412541C>T	ENSP00000353114:p.Val3083Ile	Somatic	262	2	0.00763359		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	734	0.3360805860805861	213	0.4329268292682927	143	0.39502762430939226	144	0.2517482517482518	234	0.3087071240105541	N	0	-2.588210	0.00128	0.323901	0.23642	ENSG00000185567	ENST00000333244	T	0.00642	6.02	3.7	-7.4	0.01397	.	.	.	.	.	T	0.00012	0.0000	N	0.05306	-0.075	0.80722	P	0.0	B	0.29862	0.259	B	0.30495	0.116	T	0.35674	-0.9779	8	0.37606	T	0.19	-12.5853	3.4855	0.07618	0.104:0.4381:0.2093:0.2485	rs41390046;rs41498447	3083	Q8IVF2	AHNK2_HUMAN	I	3083	ENSP00000353114:V3083I	ENSP00000353114:V3083I	V	-	1	0	AHNAK2	104483586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.871000	0.01640	-1.892000	0.01108	-2.149000	0.00334	GTC	C|0.760;T|0.240	0.240	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412541	C	T	105412541	3	4	22	1	0	0	0	0	1	0	0	0	415	478	17	2	8144	2	AHNAK2	14	105412541	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	281	105412541	1936999	7556	12664	264	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412542	105412542	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcttggggcccttgacAtctatctggggtcccttgcg					rs386781092|rs12433815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412542A>G	ENST00000333244.5	-	7	9365	c.9246T>C	c.(9244-9246)gaT>gaC	p.D3082D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3082						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCCTTGACATCTATCTGGG	0.627													.|||	2592	0.517572	0.584	0.4669	5008	,	,		14237	0.3978		0.4861	False		,,,				2504	0.6196				p.D3082D		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T9246C						PASS	.	A		1158,2452		482,194,1129	65	75	72		9246	-2.2	0	14	dbSNP_120	72	1886,6184		794,298,2943	no	coding-synonymous	AHNAK2	NM_138420.2		1276,492,4072	GG,GA,AA		23.3705,32.0776,26.0616		3082/5796	105412542	3044,8636	1805	4035	5840	SO:0001819	synonymous_variant	113146	exon7			CTTGACATCTATC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9246T>C	14.37:g.105412542A>G		Somatic	262	2	0.00763359		WXS	Illumina HiSeq	Phase_I	113	113	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.668;G|0.332	0.332	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412542	A	G	105412542	2	3	22	1	0	0	0	0	0	0	0	1	415	214	8	2		2	AHNAK2	14	105412542	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	105412542	1936998	7557	12665	264	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105412561	105412561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctatctggggtcccttgCgatctactttgggcatcttg	10	11	4	0	rs3000771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105412561C>T	ENST00000333244.5	-	7	9346	c.9227G>A	c.(9226-9228)cGc>cAc	p.R3076H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3076						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTCCCTTGCGATCTACTTT	0.622																																					p.R3076H		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G9227A						PASS	.						73	82	79					14																	105412561		1827	4068	5895	SO:0001583	missense	113146	exon7			CCCTTGCGATCTA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9227G>A	14.37:g.105412561C>T	ENSP00000353114:p.Arg3076His	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	123	120	0.97561	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	798	0.36538461538461536	220	0.44715447154471544	153	0.42265193370165743	161	0.28146853146853146	264	0.3482849604221636	N	0.180	-1.063333	0.01950	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	3.02	1.83	0.25207	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	P	0.42908	0.793	B	0.21151	0.033	T	0.01262	-1.1402	8	0.23302	T	0.38	.	4.7936	0.13261	0.5273:0.3595:0.1132:0.0	.	3076	Q8IVF2	AHNK2_HUMAN	H	3076	ENSP00000353114:R3076H	ENSP00000353114:R3076H	R	-	2	0	AHNAK2	104483606	.	.	0.002000	0.10522	0.000000	0.00434	.	.	-0.058000	0.13177	-2.897000	0.00093	CGC	C|0.635;T|0.365	0.365	strong		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412561	C	T	105412561	3	4	22	1	0	0	0	0	1	0	0	0	415	768	27	1	8164	1	AHNAK2	14	105412561	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	105412561	1936979	7558	12666			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105413790	105413790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatccaccaacgcctcgatGgactcgcctggggccgacac	10	17	0	0	rs11848564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105413790G>A	ENST00000333244.5	-	7	8117	c.7998C>T	c.(7996-7998)tcC>tcT	p.S2666S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2666						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGCCTCGATGGACTCGCCTG	0.557													.|||	1755	0.350439	0.4584	0.3314	5008	,	,		19053	0.0804		0.4841	False		,,,				2504	0.3589				p.S2666S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C7998T						PASS	.	G		1906,2152		482,942,605	192	211	205		7998	-2.7	0	14	dbSNP_120	205	4098,4278		1012,2074,1102	no	coding-synonymous	AHNAK2	NM_138420.2		1494,3016,1707	AA,AG,GG		48.9255,46.969,48.287		2666/5796	105413790	6004,6430	2029	4188	6217	SO:0001819	synonymous_variant	113146	exon7			CTCGATGGACTCG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7998C>T	14.37:g.105413790G>A		Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	392	391	0.997449	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.610;A|0.390	0.390	strong		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105413790	G	A	105413790	2	1	22	1	0	0	0	0	0	0	0	1	415	1335	47	2		2	AHNAK2	14	105413790	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1229	105413790	1935750	7559	12667			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414238	105414238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcatggaggagaggctcCcgtcggcctccaccttcggc	13	16	0	1	rs60754080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414238C>A	ENST00000333244.5	-	7	7669	c.7550G>T	c.(7549-7551)gGg>gTg	p.G2517V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2517						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGAGGCTCCCGTCGGCCTC	0.617													.|||	2405	0.480232	0.5779	0.3804	5008	,	,		16801	0.3194		0.5099	False		,,,				2504	0.5542				p.G2517V		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,-1,1	AHNAK2	719	1	0			c.G7550T						PASS	.	A	VAL/GLY	2313,1507		750,813,347	120	138	132		7550	0.3	0	14	dbSNP_129	132	4319,3903		1144,2031,936	no	missense	AHNAK2	NM_138420.2	109	1894,2844,1283	AA,AC,CC		47.4702,39.4503,44.9261	benign	2517/5796	105414238	6632,5410	1910	4111	6021	SO:0001583	missense	113146	exon7			AGGCTCCCGTCGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7550G>T	14.37:g.105414238C>A	ENSP00000353114:p.Gly2517Val	Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	283	282	0.996466	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	853	0.39056776556776557	232	0.4715447154471545	132	0.36464088397790057	158	0.2762237762237762	331	0.4366754617414248	a	0.016	-1.527230	0.00959	0.605497	0.525298	ENSG00000185567	ENST00000333244	T	0.02103	4.45	2.87	0.322	0.15888	.	.	.	.	.	T	0.00012	0.0000	N	0.00025	-2.685	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12426	-1.0548	8	0.26408	T	0.33	.	4.5201	0.11956	0.6385:0.1657:0.1958:0.0	rs61996035	2517	Q8IVF2	AHNK2_HUMAN	V	2517	ENSP00000353114:G2517V	ENSP00000353114:G2517V	G	-	2	0	AHNAK2	104485283	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.177000	0.16801	-0.362000	0.08113	-0.855000	0.03028	GGG	C|0.609;A|0.391	0.391	strong		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105414238	C	A	105414238	3	1	22	1	0	0	0	0	1	0	0	0	415	623	22	4	9841	4	AHNAK2	14	105414238	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448	105414238	1935302	7560	12668			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414252	105414252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctcccgtcggcctccacCttcggcgcagacacatccac	9	19	0	1	rs60106058	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414252C>T	ENST00000333244.5	-	7	7655	c.7536G>A	c.(7534-7536)aaG>aaA	p.K2512K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2512						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCCTCCACCTTCGGCGCAG	0.622													.|||	2278	0.454872	0.4917	0.3746	5008	,	,		17291	0.3125		0.5089	False		,,,				2504	0.5532				p.K2512K		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.G7536A						PASS	.	C		2055,1805		596,863,471	129	149	143		7536	1.5	0	14	dbSNP_129	143	4338,3900		1149,2040,930	no	coding-synonymous	AHNAK2	NM_138420.2		1745,2903,1401	TT,TC,CC		47.3416,46.7617,47.1566		2512/5796	105414252	6393,5705	1930	4119	6049	SO:0001819	synonymous_variant	113146	exon7			CTCCACCTTCGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7536G>A	14.37:g.105414252C>T		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	273	271	0.992674	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.601;T|0.399	0.399	strong		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105414252	C	T	105414252	2	4	22	1	0	0	0	0	0	0	0	1	415	680	24	2		2	AHNAK2	14	105414252	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	105414252	1935288	7561	12669			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414312	105414312	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggggcagacaccccgaaTgacggcatcttgaacttggg					rs79130434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414312T>C	ENST00000333244.5	-	7	7595	c.7476A>G	c.(7474-7476)tcA>tcG	p.S2492S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2492						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCCCGAATGACGGCATCT	0.612													.|||	273	0.0545128	0.1097	0.134	5008	,	,		18153	0.0198		0.002	False		,,,				2504	0.0133				p.S2492S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A7476G						PASS	.	C		346,3674		28,290,1692	174	202	193		7476	-2.7	0	14	dbSNP_131	193	20,8322		0,20,4151	no	coding-synonymous	AHNAK2	NM_138420.2		28,310,5843	CC,CT,TT		0.2398,8.607,2.9607		2492/5796	105414312	366,11996	2010	4171	6181	SO:0001819	synonymous_variant	113146	exon7			CCCGAATGACGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7476A>G	14.37:g.105414312T>C		Somatic	298	1	0.0033557		WXS	Illumina HiSeq	Phase_I	260	126	0.484615	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.964;C|0.036	0.036	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105414312	T	C	105414312	2	2	22	1	0	0	0	0	0	0	0	1	415	1451	51	2		2	AHNAK2	14	105414312	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60	105414312	1935228	7562	12670	265	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414316	105414316	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagacaccccgaatgacGgcatcttgaacttgggaatt					rs145541349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414316G>A	ENST00000333244.5	-	7	7591	c.7472C>T	c.(7471-7473)cCg>cTg	p.P2491L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2491						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGAATGACGGCATCTTGAA	0.612													.|||	100	0.0199681	0.0741	0.0029	5008	,	,		18046	0.0		0.0	False		,,,				2504	0.0				p.P2491L		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,+1,2	AHNAK2	719	2	0			c.C7472T						scavenged	.	G	LEU/PRO	217,3819		11,195,1812	175	202	193		7472	3.7	0.8	14	dbSNP_134	193	0,8354		0,0,4177	no	missense	AHNAK2	NM_138420.2	98	11,195,5989	AA,AG,GG		0.0,5.3766,1.7514	probably-damaging	2491/5796	105414316	217,12173	2018	4177	6195	SO:0001583	missense	113146	exon7			AATGACGGCATCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7472C>T	14.37:g.105414316G>A	ENSP00000353114:p.Pro2491Leu	Somatic	303	2	0.00660066		WXS	Illumina HiSeq	Phase_I	259	128	0.494208	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	31	0.014194139194139194	31	0.06300813008130081	0	0.0	0	0.0	0	0.0	g	16.25	3.069305	0.55539	0.053766	0.0	ENSG00000185567	ENST00000333244	T	0.03212	4.01	3.74	3.74	0.42951	.	.	.	.	.	T	0.03011	0.0089	H	0.95328	3.655	0.48632	D	0.999681	D	0.89917	1.0	D	0.97110	1.0	T	0.13469	-1.0508	9	0.42905	T	0.14	.	15.5871	0.76491	0.0:0.0:1.0:0.0	.	2491	Q8IVF2	AHNK2_HUMAN	L	2491	ENSP00000353114:P2491L	ENSP00000353114:P2491L	P	-	2	0	AHNAK2	104485361	0.998000	0.40836	0.839000	0.33178	0.181000	0.23173	3.089000	0.50183	1.642000	0.50584	0.485000	0.47835	CCG	G|0.988;A|0.012	0.012	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105414316	G	A	105414316	3	1	22	1	0	0	0	0	1	0	0	0	415	1116	39	1	9919	1	AHNAK2	14	105414316	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4	105414316	1935224	7563	12671	265	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414559	105414559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagatctactttgggcatcTtgaaactgggcatctgcagc	11	9	3	2	rs11845746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414559T>C	ENST00000333244.5	-	7	7348	c.7229A>G	c.(7228-7230)aAg>aGg	p.K2410R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2410			K -> R (in dbSNP:rs11845746).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGGGCATCTTGAAACTGGG	0.627													.|||	283	0.0565096	0.2073	0.0115	5008	,	,		17440	0.0		0.001	False		,,,				2504	0.0				p.K2410R		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A7229G						PASS	.	T	ARG/LYS	591,3093		71,449,1322	130	145	140		7229	2.9	0.5	14	dbSNP_120	140	5,8187		0,5,4091	no	missense	AHNAK2	NM_138420.2	26	71,454,5413	CC,CT,TT		0.061,16.0423,5.0185	probably-damaging	2410/5796	105414559	596,11280	1842	4096	5938	SO:0001583	missense	113146	exon7			GGCATCTTGAAAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7229A>G	14.37:g.105414559T>C	ENSP00000353114:p.Lys2410Arg	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	240	236	0.983333	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	86	0.039377289377289376	82	0.16666666666666666	4	0.011049723756906077	0	0.0	0	0.0	-	12.77	2.037786	0.35989	0.160423	6.1E-4	ENSG00000185567	ENST00000333244	T	0.01265	5.08	4.08	2.93	0.34026	.	.	.	.	.	T	0.00039	0.0001	M	0.90759	3.145	0.49915	P	1.6599999999999948E-4	D	0.69078	0.997	D	0.77004	0.989	T	0.11767	-1.0574	8	0.39692	T	0.17	.	7.5349	0.27704	0.0:0.181:0.0:0.819	rs11845746;rs34729166;rs52811002;rs11845746	2410	Q8IVF2	AHNK2_HUMAN	R	2410	ENSP00000353114:K2410R	ENSP00000353114:K2410R	K	-	2	0	AHNAK2	104485604	0.002000	0.14202	0.526000	0.27913	0.064000	0.16182	0.833000	0.27504	0.468000	0.27243	0.397000	0.26171	AAG	T|0.967;C|0.033	0.033	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105414559	T	C	105414559	3	2	22	1	0	0	0	0	1	0	0	0	415	1609	56	3	10162	3	AHNAK2	14	105414559	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	243	105414559	1934981	7564	12672			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105414629	105414629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccggcacggggccctctgGgagtttcacatccacttggc	12	15	2	0	rs72702027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105414629G>A	ENST00000333244.5	-	7	7278	c.7159C>T	c.(7159-7161)Cca>Tca	p.P2387S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2387						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K2385fs*18(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTCTGGGAGTTTCACA	0.637													.|||	2664	0.531949	0.5673	0.5101	5008	,	,		16631	0.4048		0.5328	False		,,,				2504	0.6299				p.P2387S		Atlas-SNP	.											.	AHNAK2	719	.	1	Deletion - Frameshift(1)	ovary(1)	c.C7159T						PASS	.	G	SER/PRO	2290,1486		726,838,324	104	117	113		7159	0.8	0	14	dbSNP_131	113	4464,3752		1227,2010,871	no	missense	AHNAK2	NM_138420.2	74	1953,2848,1195	AA,AG,GG		45.667,39.3538,43.6791	possibly-damaging	2387/5796	105414629	6754,5238	1888	4108	5996	SO:0001583	missense	113146	exon7			CCTCTGGGAGTTT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7159C>T	14.37:g.105414629G>A	ENSP00000353114:p.Pro2387Ser	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	229	229	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1113	0.5096153846153846	297	0.6036585365853658	201	0.5552486187845304	217	0.3793706293706294	398	0.525065963060686	-	15.77	2.932190	0.52866	0.606462	0.54333	ENSG00000185567	ENST00000333244	T	0.03242	4.0	4.0	0.756	0.18421	.	.	.	.	.	T	0.00012	0.0000	M	0.90870	3.155	0.80722	P	0.0	P	0.44344	0.833	P	0.52758	0.708	T	0.27938	-1.0059	8	0.45353	T	0.12	.	16.3569	0.83237	0.0:0.575:0.425:0.0	.	2387	Q8IVF2	AHNK2_HUMAN	S	2387	ENSP00000353114:P2387S	ENSP00000353114:P2387S	P	-	1	0	AHNAK2	104485674	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.145000	0.16157	0.151000	0.19162	0.485000	0.47835	CCA	G|0.479;A|0.521	0.521	strong		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105414629	G	A	105414629	3	1	22	1	0	0	0	0	1	0	0	0	415	1232	43	2	10232	2	AHNAK2	14	105414629	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70	105414629	1934911	7565	12673			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105415299	105415299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcctggggcagacaccccAaacgacggcatcttgaactt	10	13	1	2	rs59107644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105415299A>G	ENST00000333244.5	-	7	6608	c.6489T>C	c.(6487-6489)ttT>ttC	p.F2163F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2163						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGACACCCCAAACGACGGCA	0.587													.|||	957	0.191094	0.23	0.1758	5008	,	,		16361	0.0665		0.2714	False		,,,				2504	0.1953				p.F2163F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T6489C						PASS	.	G		695,3171		131,433,1369	219	155	178		6489	-4.9	0	14	dbSNP_129	178	318,6684		21,276,3204	no	coding-synonymous	AHNAK2	NM_138420.2		152,709,4573	GG,GA,AA		4.5416,17.9772,9.3209		2163/5796	105415299	1013,9855	1933	3501	5434	SO:0001819	synonymous_variant	113146	exon7			CACCCCAAACGAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6489T>C	14.37:g.105415299A>G		Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	358	185	0.51676	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.823;G|0.177	0.177	strong		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415299	A	G	105415299	2	3	22	1	0	0	0	0	0	0	0	1	415	127	5	2		2	AHNAK2	14	105415299	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	670	105415299	1934241	7566	12674			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105415469	105415469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgacatcggggactctcaTttccaccttggggtctttta	9	12	2	0	rs11846918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105415469T>C	ENST00000333244.5	-	7	6438	c.6319A>G	c.(6319-6321)Atg>Gtg	p.M2107V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2107			M -> V (in dbSNP:rs11846918).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTCTCATTTCCACCTTG	0.597													.|||	2244	0.448083	0.6369	0.4323	5008	,	,		14687	0.374		0.2724	False		,,,				2504	0.4611				p.M2107V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A6319G						PASS	.	C	VAL/MET	2269,1485		794,681,402	138	94	111		6319	-2.2	0	14	dbSNP_120	111	720,5004		240,240,2382	yes	missense	AHNAK2	NM_138420.2	21	1034,921,2784	CC,CT,TT		12.5786,39.5578,31.5362	benign	2107/5796	105415469	2989,6489	1877	2862	4739	SO:0001583	missense	113146	exon7			CTCTCATTTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6319A>G	14.37:g.105415469T>C	ENSP00000353114:p.Met2107Val	Somatic	289	0	0		WXS	Illumina HiSeq	Phase_I	359	357	0.994429	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	935	0.4281135531135531	323	0.6565040650406504	180	0.4972375690607735	201	0.3513986013986014	231	0.30474934036939316	N	0.013	-1.627804	0.00813	0.604422	0.125786	ENSG00000185567	ENST00000333244	T	0.01119	5.31	3.75	-2.21	0.06973	.	.	.	.	.	T	0.00012	0.0000	N	0.00119	-2.075	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.19647	-1.0299	8	0.02654	T	1	.	5.9469	0.19223	0.0:0.3584:0.3864:0.2551	rs11846918	2107	Q8IVF2	AHNK2_HUMAN	V	2107	ENSP00000353114:M2107V	ENSP00000353114:M2107V	M	-	1	0	AHNAK2	104486514	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-3.969000	0.00323	-1.017000	0.03367	-0.665000	0.03846	ATG	T|0.581;C|0.419	0.419	strong		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415469	T	C	105415469	3	2	22	1	0	0	0	0	1	0	0	0	415	1493	52	2	11072	2	AHNAK2	14	105415469	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	170	105415469	1934071	7567	12675			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105415608	105415608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccagctccctcgggcacGtggccctccgggagcttcac	13	17	1	0	rs11850848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105415608G>C	ENST00000333244.5	-	7	6299	c.6180C>G	c.(6178-6180)caC>caG	p.H2060Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2060						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCGGGCACGTGGCCCTCCG	0.627													.|||	1818	0.363019	0.562	0.3329	5008	,	,		11574	0.3333		0.1163	False		,,,				2504	0.3998				p.H2060Q		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C6180G						PASS	.	G	GLN/HIS	1936,1626		688,560,533	90	72	79		6180	-2.5	0	14	dbSNP_120	79	629,5089		217,195,2447	no	missense	AHNAK2	NM_138420.2	24	905,755,2980	CC,CG,GG		11.0003,45.6485,27.6401	benign	2060/5796	105415608	2565,6715	1781	2859	4640	SO:0001583	missense	113146	exon7			GGGCACGTGGCCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6180C>G	14.37:g.105415608G>C	ENSP00000353114:p.His2060Gln	Somatic	227	1	0.00440529		WXS	Illumina HiSeq	Phase_I	253	253	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	747	0.34203296703296704	269	0.5467479674796748	152	0.4198895027624309	184	0.32167832167832167	142	0.18733509234828497	-	7.258	0.604635	0.14002	0.543515	0.110003	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.25	-2.47	0.06442	.	.	.	.	.	T	0.00012	0.0000	L	0.55017	1.72	0.80722	P	0.0	B	0.17465	0.022	B	0.20384	0.029	T	0.08289	-1.0729	8	0.12766	T	0.61	.	8.9245	0.35632	0.0:0.1777:0.6214:0.2009	rs11850848;rs60903782	2060	Q8IVF2	AHNK2_HUMAN	Q	2060	ENSP00000353114:H2060Q	ENSP00000353114:H2060Q	H	-	3	2	AHNAK2	104486653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.080000	0.00153	-0.084000	0.12595	-0.494000	0.04653	CAC	G|0.698;C|0.302	0.302	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415608	G	C	105415608	3	2	22	1	0	0	0	0	1	0	0	0	415	1136	40	4	11211	4	AHNAK2	14	105415608	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139	105415608	1933932	7568	12676			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105415899	105415899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgcgcaccatccagcttAgccttctgggcctggacatc	10	16	1	0	rs11850869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105415899A>G	ENST00000333244.5	-	7	6008	c.5889T>C	c.(5887-5889)gcT>gcC	p.A1963A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1963						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCAGCTTAGCCTTCTGGG	0.597													.|||	339	0.0676917	0.2315	0.013	5008	,	,		18512	0.0218		0.001	False		,,,				2504	0.001				p.A1963A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T5889C						PASS	.	G		716,3310		132,452,1429	142	155	151		5889	-2.9	0	14	dbSNP_120	151	7,8261		1,5,4128	no	coding-synonymous	AHNAK2	NM_138420.2		133,457,5557	GG,GA,AA		0.0847,17.7844,5.8809		1963/5796	105415899	723,11571	2013	4134	6147	SO:0001819	synonymous_variant	113146	exon7			CAGCTTAGCCTTC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5889T>C	14.37:g.105415899A>G		Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	296	294	0.993243	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.965;G|0.035	0.035	strong		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415899	A	G	105415899	2	3	22	1	0	0	0	0	0	0	0	1	415	407	15	3		3	AHNAK2	14	105415899	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	291	105415899	1933641	7569	12677			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416010	105416010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttggcgcccttaacatcTgtctgggggcccttgaggtc	13	12	2	1	rs2582511	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416010T>C	ENST00000333244.5	-	7	5897	c.5778A>G	c.(5776-5778)acA>acG	p.T1926T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1926						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTAACATCTGTCTGGGGGC	0.622													.|||	2922	0.583466	0.7057	0.4755	5008	,	,		16374	0.3998		0.6014	False		,,,				2504	0.6656				p.T1926T		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-1,1	AHNAK2	719	1	0			c.A5778G						PASS	.	C		2698,1050		1055,588,231	126	138	134		5778	-2.6	0	14	dbSNP_100	134	4926,3192		1693,1540,826	no	coding-synonymous	AHNAK2	NM_138420.2		2748,2128,1057	CC,CT,TT		39.32,28.0149,35.7492		1926/5796	105416010	7624,4242	1874	4059	5933	SO:0001819	synonymous_variant	113146	exon7			AACATCTGTCTGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5778A>G	14.37:g.105416010T>C		Somatic	272	1	0.00367647		WXS	Illumina HiSeq	Phase_I	267	266	0.996255	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.428;C|0.572	0.572	strong		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416010	T	C	105416010	2	2	22	1	0	0	0	0	0	0	0	1	415	1567	55	3		3	AHNAK2	14	105416010	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111	105416010	1933530	7570	12678			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416344	105416344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgtctttggcagtcacaTccttgtcggccagggacagg	13	11	2	0	rs368838079		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416344T>G	ENST00000333244.5	-	7	5563	c.5444A>C	c.(5443-5445)gAt>gCt	p.D1815A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1815						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGTCACATCCTTGTCGGC	0.612																																					p.D1815A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A5444C						PASS	.	T	ALA/ASP	15,3901		2,11,1945	157	191	180		5444	0.1	0	14		180	0,8254		0,0,4127	no	missense	AHNAK2	NM_138420.2	126	2,11,6072	GG,GT,TT		0.0,0.383,0.1233	benign	1815/5796	105416344	15,12155	1958	4127	6085	SO:0001583	missense	113146	exon7			GTCACATCCTTGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5444A>C	14.37:g.105416344T>G	ENSP00000353114:p.Asp1815Ala	Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	301	16	0.0531561	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	13.76	2.332517	0.41297	0.00383	0.0	ENSG00000185567	ENST00000333244	T	0.01947	4.54	4.3	0.0484	0.14285	.	.	.	.	.	T	0.04861	0.0131	M	0.92317	3.295	0.09310	N	1	B	0.33637	0.42	B	0.25506	0.061	T	0.18524	-1.0334	9	0.34782	T	0.22	-8.5499	7.3574	0.26727	0.0:0.0901:0.4093:0.5005	.	1815	Q8IVF2	AHNK2_HUMAN	A	1815	ENSP00000353114:D1815A	ENSP00000353114:D1815A	D	-	2	0	AHNAK2	104487389	0.291000	0.24352	0.004000	0.12327	0.019000	0.09904	2.523000	0.45580	0.079000	0.16929	0.374000	0.22700	GAT	.	.	weak		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105416344	T	G	105416344	3	3	22	1	0	0	0	0	1	0	0	0	415	1435	50	5	11947	5	AHNAK2	14	105416344	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	334	105416344	1933196	7571	12679			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416621	105416621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctccgggagtttcacgtTcacttggccagcctggacct	11	15	2	0	rs11848082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416621T>C	ENST00000333244.5	-	7	5286	c.5167A>G	c.(5167-5169)Aac>Gac	p.N1723D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1723						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTTTCACGTTCACTTGGCCA	0.627													.|||	217	0.0433307	0.152	0.013	5008	,	,		15030	0.002		0.001	False		,,,				2504	0.0041				p.N1723D		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A5167G						PASS	.	C	ASP/ASN	470,3246		77,316,1465	94	111	106		5167	4	0	14	dbSNP_120	106	6,8110		1,4,4053	no	missense	AHNAK2	NM_138420.2	23	78,320,5518	CC,CT,TT		0.0739,12.648,4.023	benign	1723/5796	105416621	476,11356	1858	4058	5916	SO:0001583	missense	113146	exon7			TCACGTTCACTTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5167A>G	14.37:g.105416621T>C	ENSP00000353114:p.Asn1723Asp	Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	254	109	0.429134	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	52	0.023809523809523808	46	0.09349593495934959	5	0.013812154696132596	1	0.0017482517482517483	0	0.0	N	0.748	-0.773884	0.02951	0.12648	7.39E-4	ENSG00000185567	ENST00000333244	T	0.00591	6.35	3.97	3.97	0.46021	.	.	.	.	.	T	0.00012	0.0000	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31503	-0.9941	9	0.06757	T	0.87	.	7.908	0.29774	0.0:0.7962:0.0:0.2038	rs60164864	1723	Q8IVF2	AHNK2_HUMAN	D	1723	ENSP00000353114:N1723D	ENSP00000353114:N1723D	N	-	1	0	AHNAK2	104487666	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.259000	0.18405	0.665000	0.31066	-0.459000	0.05422	AAC	T|0.977;C|0.023	0.023	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416621	T	C	105416621	3	2	22	1	0	0	0	0	1	0	0	0	415	1783	62	2	12224	2	AHNAK2	14	105416621	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	277	105416621	1932919	7572	12680			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416685	105416685	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgaggtcagtggtcttCaggtccccctgcatggaggg	15	10	3	1	rs2582506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416685C>G	ENST00000333244.5	-	7	5222	c.5103G>C	c.(5101-5103)ctG>ctC	p.L1701L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1701						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGTCTTCAGGTCCCCCT	0.642													.|||	11	0.00219649	0.0038	0.0	5008	,	,		15282	0.001		0.0	False		,,,				2504	0.0051				p.L1701L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G5103C						PASS	.	G		2835,1023		1126,583,220	125	145	139		5103	0.9	0	14	dbSNP_100	139	5485,2699		2035,1415,642	no	coding-synonymous	AHNAK2	NM_138420.2		3161,1998,862	GG,GC,CC		32.979,26.5163,30.9085		1701/5796	105416685	8320,3722	1929	4092	6021	SO:0001819	synonymous_variant	113146	exon7			GGTCTTCAGGTCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5103G>C	14.37:g.105416685C>G		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	259	258	0.996139	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.401;G|0.599	0.599	strong		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105416685	C	G	105416685	2	3	22	1	0	0	0	0	0	0	0	1	415	813	29	4		4	AHNAK2	14	105416685	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64	105416685	1932855	7573	12681			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416775	105416775	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgatggacttgcctggggcCgacaccccaaatgatggcat					rs60880494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416775C>A	ENST00000333244.5	-	7	5132	c.5013G>T	c.(5011-5013)tcG>tcT	p.S1671S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1671						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTGGGGCCGACACCCCAA	0.602													.|||	107	0.0213658	0.0613	0.0058	5008	,	,		17088	0.005		0.001	False		,,,				2504	0.0164				p.S1671S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G5013T						PASS	.	T		136,3744		13,110,1817	190	222	212		5013	-5.7	0	14	dbSNP_129	212	15,8193		2,11,4091	no	coding-synonymous	AHNAK2	NM_138420.2		15,121,5908	AA,AC,CC		0.1827,3.5052,1.2492		1671/5796	105416775	151,11937	1940	4104	6044	SO:0001819	synonymous_variant	113146	exon7			TGGGGCCGACACC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5013G>T	14.37:g.105416775C>A		Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	213	82	0.384977	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.015;C|0.985	0.015	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416775	C	A	105416775	2	1	22	1	0	0	0	0	0	0	0	1	415	639	23	4		4	AHNAK2	14	105416775	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90	105416775	1932765	7574	12682	266	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416784	105416784	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcctggggccgacaccccAaatgatggcatcttgaactt					rs59373922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416784A>G	ENST00000333244.5	-	7	5123	c.5004T>C	c.(5002-5004)ttT>ttC	p.F1668F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1668						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCAAATGATGGCA	0.602													.|||	1298	0.259185	0.3563	0.1081	5008	,	,		17171	0.3462		0.1044	False		,,,				2504	0.3047				p.F1668F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T5004C						PASS	.	G		1080,2792		259,562,1115	198	234	223		5004	-6.9	0	14	dbSNP_129	223	900,7304		141,618,3343	no	coding-synonymous	AHNAK2	NM_138420.2		400,1180,4458	GG,GA,AA		10.9703,27.8926,16.3962		1668/5796	105416784	1980,10096	1936	4102	6038	SO:0001819	synonymous_variant	113146	exon7			CACCCCAAATGAT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5004T>C	14.37:g.105416784A>G		Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	216	79	0.365741	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.835;G|0.165	0.165	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105416784	A	G	105416784	2	3	22	1	0	0	0	0	0	0	0	1	415	127	5	2		2	AHNAK2	14	105416784	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9	105416784	1932756	7575	12683	266	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416959	105416959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcgggggctgtcacttccAccttggggcctttcaggtcc	12	14	2	0	rs2013462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105416959A>G	ENST00000333244.5	-	7	4948	c.4829T>C	c.(4828-4830)gTg>gCg	p.V1610A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1610						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCACCTTGGGGCC	0.597													.|||	2849	0.56889	0.6785	0.4914	5008	,	,		14812	0.3621		0.5964	False		,,,				2504	0.6605				p.V1610A		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T4829C						PASS	.	G	ALA/VAL	2347,1261		910,527,367	86	103	98		4829	-7.7	0	14	dbSNP_92	98	4754,3292		1652,1450,921	no	missense	AHNAK2	NM_138420.2	64	2562,1977,1288	GG,GA,AA		40.9147,34.9501,39.0681	benign	1610/5796	105416959	7101,4553	1804	4023	5827	SO:0001583	missense	113146	exon7			ACTTCCACCTTGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4829T>C	14.37:g.105416959A>G	ENSP00000353114:p.Val1610Ala	Somatic	379	3	0.00791557		WXS	Illumina HiSeq	Phase_I	286	286	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	915	0.41895604395604397	242	0.491869918699187	167	0.4613259668508287	140	0.24475524475524477	366	0.48284960422163586	N	5.418	0.262361	0.10294	0.650499	0.590853	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.83	-7.66	0.01277	.	.	.	.	.	T	0.00012	0.0000	N	0.17248	0.465	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.24012	-1.0172	8	0.12430	T	0.62	.	2.6755	0.05080	0.2901:0.1285:0.4119:0.1695	.	1610	Q8IVF2	AHNK2_HUMAN	A	1610	ENSP00000353114:V1610A	ENSP00000353114:V1610A	V	-	2	0	AHNAK2	104488004	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.010000	0.00314	-1.715000	0.01389	-0.665000	0.03846	GTG	A|0.579;G|0.421	0.421	strong		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105416959	A	G	105416959	3	3	22	1	0	0	0	0	1	0	0	0	415	159	6	2	12562	2	AHNAK2	14	105416959	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	175	105416959	1932581	7576	12684			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417102	105417102	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcggacacagggccctcTgggagtttcacgtccacttg	11	15	2	0	rs2248966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417102T>C	ENST00000333244.5	-	7	4805	c.4686A>G	c.(4684-4686)ccA>ccG	p.P1562P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1562						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGGGCCCTCTGGGAGTTTCA	0.627													.|||	2785	0.55611	0.6172	0.487	5008	,	,		15082	0.374		0.5984	False		,,,				2504	0.6667				p.P1562P		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A4686G						PASS	.	T		2370,1386		807,756,315	96	98	97		4686	-7.6	0	14	dbSNP_100	97	4866,3252		1676,1514,869	no	coding-synonymous	AHNAK2	NM_138420.2		2483,2270,1184	CC,CT,TT		40.0591,36.901,39.0601		1562/5796	105417102	7236,4638	1878	4059	5937	SO:0001819	synonymous_variant	113146	exon7			GCCCTCTGGGAGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4686A>G	14.37:g.105417102T>C		Somatic	302	1	0.00331126		WXS	Illumina HiSeq	Phase_I	308	302	0.980519	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.517;C|0.483	0.483	strong		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105417102	T	C	105417102	2	2	22	1	0	0	0	0	0	0	0	1	415	1567	55	3		3	AHNAK2	14	105417102	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	143	105417102	1932438	7577	12685			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417286	105417286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagacaccccgaacgacGgcatcttgaacttgggcatt	12	12	1	2	rs149840830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417286G>A	ENST00000333244.5	-	7	4621	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1501						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGAACGACGGCATCTTGAA	0.607													.|||	272	0.0543131	0.2027	0.0058	5008	,	,		14935	0.0		0.0	False		,,,				2504	0.0				p.P1501L		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,0,1	AHNAK2	719	1	0			c.C4502T						PASS	.	G	LEU/PRO	600,3288		124,352,1468	194	134	153		4502	4.2	0.9	14	dbSNP_134	153	13,8061		4,5,4028	no	missense	AHNAK2	NM_138420.2	98	128,357,5496	AA,AG,GG		0.161,15.4321,5.1246	probably-damaging	1501/5796	105417286	613,11349	1944	4037	5981	SO:0001583	missense	113146	exon7			AACGACGGCATCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4502C>T	14.37:g.105417286G>A	ENSP00000353114:p.Pro1501Leu	Somatic	370	0	0		WXS	Illumina HiSeq	Phase_I	355	337	0.949296	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	92	0.04212454212454213	90	0.18292682926829268	2	0.0055248618784530384	0	0.0	0	0.0	g	14.95	2.687349	0.48097	0.154321	0.00161	ENSG00000185567	ENST00000333244	T	0.03065	4.06	4.16	4.16	0.48862	.	.	.	.	.	T	0.00073	0.0002	H	0.95043	3.615	0.27144	P	0.9615793	D	0.89917	1.0	D	0.91635	0.999	T	0.05305	-1.0893	8	0.87932	D	0	-29.3229	16.1243	0.81382	0.0:0.0:1.0:0.0	.	1501	Q8IVF2	AHNK2_HUMAN	L	1501	ENSP00000353114:P1501L	ENSP00000353114:P1501L	P	-	2	0	AHNAK2	104488331	0.035000	0.19736	0.884000	0.34674	0.008000	0.06430	0.923000	0.28757	1.867000	0.54127	0.485000	0.47835	CCG	G|0.966;A|0.034	0.034	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105417286	G	A	105417286	3	1	22	1	0	0	0	0	1	0	0	0	415	1116	39	1	12889	1	AHNAK2	14	105417286	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	184	105417286	1932254	7578	12686			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417503	105417503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccttgatgtctatttcagGgcccttgaggtccactttgg	11	11	2	2	rs146582718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417503G>T	ENST00000333244.5	-	7	4404	c.4285C>A	c.(4285-4287)Cct>Act	p.P1429T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1429						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTATTTCAGGGCCCTTGAGG	0.612													.|||	321	0.0640974	0.2307	0.0159	5008	,	,		12778	0.0		0.005	False		,,,				2504	0.0				p.P1429T		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4285A						PASS	.	G	THR/PRO	721,2755		187,347,1204	98	74	83		4285	3.9	0.1	14	dbSNP_134	83	22,5768		3,16,2876	no	missense	AHNAK2	NM_138420.2	38	190,363,4080	TT,TG,GG		0.38,20.7422,8.0186	probably-damaging	1429/5796	105417503	743,8523	1738	2895	4633	SO:0001583	missense	113146	exon7			TTTCAGGGCCCTT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4285C>A	14.37:g.105417503G>T	ENSP00000353114:p.Pro1429Thr	Somatic	389	0	0		WXS	Illumina HiSeq	Phase_I	411	406	0.987835	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	102	0.046703296703296704	99	0.20121951219512196	3	0.008287292817679558	0	0.0	0	0.0	g	11.78	1.742050	0.30865	0.207422	0.0038	ENSG00000185567	ENST00000333244	T	0.02656	4.21	3.87	3.87	0.44632	.	.	.	.	.	T	0.00012	0.0000	M	0.93328	3.405	0.38700	P	0.047036999999999995	D	0.89917	1.0	D	0.77557	0.99	T	0.06607	-1.0817	8	0.40728	T	0.16	-26.1992	9.0134	0.36155	0.1094:0.0:0.8906:0.0	.	1429	Q8IVF2	AHNK2_HUMAN	T	1429	ENSP00000353114:P1429T	ENSP00000353114:P1429T	P	-	1	0	AHNAK2	104488548	0.998000	0.40836	0.081000	0.20488	0.012000	0.07955	2.751000	0.47508	1.727000	0.51537	0.306000	0.20318	CCT	G|0.962;T|0.038	0.038	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417503	G	T	105417503	3	4	22	1	0	0	0	0	1	0	0	0	415	1232	43	4	13106	4	AHNAK2	14	105417503	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	217	105417503	1932037	7579	12687			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417731	105417731	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaccttgggtgcagacaGgtccacggaggcctcaatgg					rs199870471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417731G>C	ENST00000333244.5	-	7	4176	c.4057C>G	c.(4057-4059)Ctg>Gtg	p.L1353V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1353						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCAGACAGGTCCACGGAG	0.597													.|||	284	0.0567093	0.0113	0.1311	5008	,	,		13717	0.0129		0.1153	False		,,,				2504	0.0501				p.L1353V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4057G						PASS	.						125	106	114					14																	105417731		1812	2876	4688	SO:0001583	missense	113146	exon7			CAGACAGGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4057C>G	14.37:g.105417731G>C	ENSP00000353114:p.Leu1353Val	Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	261	108	0.413793	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	0.008	-1.901985	0.00517	.	.	ENSG00000185567	ENST00000333244	T	0.01933	4.55	4.27	0.17	0.15021	.	.	.	.	.	T	0.00784	0.0026	N	0.01529	-0.815	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46721	-0.9171	9	0.02654	T	1	-1.5949	5.7398	0.18087	0.0:0.3359:0.4011:0.263	.	1353	Q8IVF2	AHNK2_HUMAN	V	1353	ENSP00000353114:L1353V	ENSP00000353114:L1353V	L	-	1	2	AHNAK2	104488776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.272000	0.01165	-0.259000	0.09432	-1.901000	0.00528	CTG	.	.	weak		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105417731	G	C	105417731	3	2	22	1	0	0	0	0	1	0	0	0	415	991	35	4	13334	4	AHNAK2	14	105417731	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	228	105417731	1931809	7580	12688	267	3	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417732	105417732	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccttgggtgcagacagGtccacggaggcctcaatgga					rs190986194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417732G>A	ENST00000333244.5	-	7	4175	c.4056C>T	c.(4054-4056)gaC>gaT	p.D1352D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1352						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGCAGACAGGTCCACGGAGG	0.597													.|||	283	0.0565096	0.0113	0.1297	5008	,	,		13768	0.0129		0.1153	False		,,,				2504	0.0501				p.D1352D		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4056T						PASS	.						126	107	114					14																	105417732		1812	2877	4689	SO:0001819	synonymous_variant	113146	exon7			AGACAGGTCCACG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4056C>T	14.37:g.105417732G>A		Somatic	363	0	0		WXS	Illumina HiSeq	Phase_I	258	105	0.406977	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.914;A|0.086	0.086	strong		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105417732	G	A	105417732	2	1	22	1	0	0	0	0	0	0	0	1	415	1252	44	2		2	AHNAK2	14	105417732	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	105417732	1931808	7581	12689	267	3	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417738	105417738	+	Silent	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggtgcagacaggtccacGgaggcctcaatggacttgcc					rs536679222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417738G>C	ENST00000333244.5	-	7	4169	c.4050C>G	c.(4048-4050)tcC>tcG	p.S1350S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1350						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGGTCCACGGAGGCCTCAA	0.592													.|||	371	0.0740815	0.0136	0.1398	5008	,	,		14224	0.0119		0.1571	False		,,,				2504	0.0879				p.S1350S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4050G						PASS	.						129	111	118					14																	105417738		1816	2913	4729	SO:0001819	synonymous_variant	113146	exon7			GTCCACGGAGGCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4050C>G	14.37:g.105417738G>C		Somatic	371	0	0		WXS	Illumina HiSeq	Phase_I	265	107	0.403774	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105417738	G	C	105417738	2	2	22	1	0	0	0	0	0	0	0	1	415	1103	39	4		4	AHNAK2	14	105417738	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	105417738	1931802	7582	12690	267	3	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417765	105417765	+	Silent	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatggacttgcctggggcAgacaccccgaacgacggcat					rs2894636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417765A>C	ENST00000333244.5	-	7	4142	c.4023T>G	c.(4021-4023)tcT>tcG	p.S1341S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1341						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTGGGGCAGACACCCCGA	0.607																																					p.S1341S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T4023G						PASS	.	A		167,3493		42,83,1705	128	119	122		4023	-8.6	0	14	dbSNP_101	122	39,6505		8,23,3241	no	coding-synonymous	AHNAK2	NM_138420.2		50,106,4946	CC,CA,AA		0.596,4.5628,2.0188		1341/5796	105417765	206,9998	1830	3272	5102	SO:0001819	synonymous_variant	113146	exon7			TGGGGCAGACACC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4023T>G	14.37:g.105417765A>C		Somatic	389	1	0.00257069		WXS	Illumina HiSeq	Phase_I	264	263	0.996212	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.831;C|0.169	0.169	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105417765	A	C	105417765	2	2	22	1	0	0	0	0	0	0	0	1	415	175	7	5		5	AHNAK2	14	105417765	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27	105417765	1931775	7583	12691	268	5	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417766	105417766	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatggacttgcctggggcaGacaccccgaacgacggcatc					rs2396457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417766G>A	ENST00000333244.5	-	7	4141	c.4022C>T	c.(4021-4023)tCt>tTt	p.S1341F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1341						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCAGACACCCCGAA	0.607													.|||	1575	0.314497	0.5658	0.1225	5008	,	,		13647	0.2937		0.1004	False		,,,				2504	0.3528				p.S1341F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4022T						PASS	.	G	PHE/SER	105,3549		16,73,1738	128	119	122		4022	3.4	0	14	dbSNP_100	122	18,6534		1,16,3259	no	missense	AHNAK2	NM_138420.2	155	17,89,4997	AA,AG,GG		0.2747,2.8736,1.2052	probably-damaging	1341/5796	105417766	123,10083	1827	3276	5103	SO:0001583	missense	113146	exon7			GGGGCAGACACCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4022C>T	14.37:g.105417766G>A	ENSP00000353114:p.Ser1341Phe	Somatic	386	1	0.00259067		WXS	Illumina HiSeq	Phase_I	263	263	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	453	0.20741758241758243	248	0.5040650406504065	43	0.11878453038674033	130	0.22727272727272727	32	0.04221635883905013	-	14.71	2.616236	0.46631	0.028736	0.002747	ENSG00000185567	ENST00000333244	T	0.00753	5.74	4.31	3.4	0.38934	.	.	.	.	.	T	0.00012	0.0000	M	0.92122	3.275	0.80722	P	0.0	D	0.89917	1.0	D	0.76575	0.988	T	0.33471	-0.9867	8	0.48119	T	0.1	-6.8464	12.9494	0.58391	0.0:0.0:0.8363:0.1637	.	1341	Q8IVF2	AHNK2_HUMAN	F	1341	ENSP00000353114:S1341F	ENSP00000353114:S1341F	S	-	2	0	AHNAK2	104488811	0.695000	0.27747	0.002000	0.10522	0.000000	0.00434	3.065000	0.49994	0.791000	0.33826	-0.500000	0.04577	TCT	G|0.824;A|0.176	0.176	strong		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105417766	G	A	105417766	3	1	22	1	0	0	0	0	1	0	0	0	415	942	33	2	13369	2	AHNAK2	14	105417766	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	105417766	1931774	7584	12692	268	5	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417768	105417768	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggacttgcctggggcagaCaccccgaacgacggcatctt					rs2396458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417768C>A	ENST00000333244.5	-	7	4139	c.4020G>T	c.(4018-4020)gtG>gtT	p.V1340V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1340						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCAGACACCCCGAACG	0.612													.|||	80	0.0159744	0.0605	0.0	5008	,	,		13723	0.0		0.0	False		,,,				2504	0.0				p.V1340V		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G4020T						PASS	.	C		912,2740		433,46,1347	129	120	124		4020	-8.3	0	14	dbSNP_100	124	227,6321		100,27,3147	no	coding-synonymous	AHNAK2	NM_138420.2		533,73,4494	AA,AC,CC		3.4667,24.9726,11.1667		1340/5796	105417768	1139,9061	1826	3274	5100	SO:0001819	synonymous_variant	113146	exon7			GGCAGACACCCCG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4020G>T	14.37:g.105417768C>A		Somatic	383	0	0		WXS	Illumina HiSeq	Phase_I	256	255	0.996094	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.809;A|0.191	0.191	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105417768	C	A	105417768	2	1	22	1	0	0	0	0	0	0	0	1	415	465	17	4		4	AHNAK2	14	105417768	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	105417768	1931772	7585	12693	268	5	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417774	105417774	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcctggggcagacaccccGaacgacggcatcttgaactt					rs2013228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417774G>A	ENST00000333244.5	-	7	4133	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1338						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGACACCCCGAACGACGGCA	0.612													.|||	1956	0.390575	0.5726	0.3213	5008	,	,		14015	0.2986		0.2505	False		,,,				2504	0.4325				p.F1338F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C4014T						PASS	.	G		1920,1726		696,528,599	143	125	132		4014	-8.2	0	14	dbSNP_92	132	1647,4939		654,339,2300	no	coding-synonymous	AHNAK2	NM_138420.2		1350,867,2899	AA,AG,GG		25.0076,47.3396,34.8612		1338/5796	105417774	3567,6665	1823	3293	5116	SO:0001819	synonymous_variant	113146	exon7			CACCCCGAACGAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4014C>T	14.37:g.105417774G>A		Somatic	378	0	0		WXS	Illumina HiSeq	Phase_I	263	263	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.700;A|0.300	0.300	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105417774	G	A	105417774	2	1	22	1	0	0	0	0	0	0	0	1	415	1049	37	1		1	AHNAK2	14	105417774	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	105417774	1931766	7586	12694	268	5	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105417777	105417777	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggggcagacaccccgaaCgacggcatcttgaacttggg					rs1960092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105417777C>T	ENST00000333244.5	-	7	4130	c.4011G>A	c.(4009-4011)tcG>tcA	p.S1337S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1337						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCCCGAACGACGGCATCT	0.612													.|||	385	0.076877	0.2693	0.0173	5008	,	,		14219	0.0079		0.007	False		,,,				2504	0.002				p.S1337S		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G4011A						PASS	.	G		843,2819		207,429,1195	147	129	135		4011	-2.5	0	14	dbSNP_92	135	21,6593		3,15,3289	no	coding-synonymous	AHNAK2	NM_138420.2		210,444,4484	TT,TC,CC		0.3175,23.0202,8.4079		1337/5796	105417777	864,9412	1831	3307	5138	SO:0001819	synonymous_variant	113146	exon7			CCCGAACGACGGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4011G>A	14.37:g.105417777C>T		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	255	254	0.996078	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.959;T|0.041	0.041	strong		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417777	C	T	105417777	2	4	22	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105417777	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	105417777	1931763	7587	12695	268	5	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418275	105418275	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggctgacgccccgaacgaTggcatcttgaacttgggcat					rs2819441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105418275T>C	ENST00000333244.5	-	7	3632	c.3513A>G	c.(3511-3513)ccA>ccG	p.P1171P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1171						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCGAACGATGGCATCTTGA	0.617													.|||	117	0.0233626	0.0408	0.0058	5008	,	,		18029	0.0516		0.004	False		,,,				2504	0.0031				p.P1171P		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A3513G						PASS	.	T		1112,2754		226,660,1047	188	191	190		3513	-8.8	0	14	dbSNP_100	190	1855,6381		286,1283,2549	no	coding-synonymous	AHNAK2	NM_138420.2		512,1943,3596	CC,CT,TT		22.5231,28.7636,24.5166		1171/5796	105418275	2967,9135	1933	4118	6051	SO:0001819	synonymous_variant	113146	exon7			GAACGATGGCATC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3513A>G	14.37:g.105418275T>C		Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	309	166	0.537217	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.267;T|0.733	0.267	strong		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418275	T	C	105418275	2	2	22	1	0	0	0	0	0	0	0	1	415	1451	51	2		2	AHNAK2	14	105418275	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	498	105418275	1931265	7588	12696	269	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418276	105418276	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgacgccccgaacgatGgcatcttgaacttgggcatt					rs35374867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105418276G>A	ENST00000333244.5	-	7	3631	c.3512C>T	c.(3511-3513)cCa>cTa	p.P1171L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1171						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGAACGATGGCATCTTGAA	0.617													.|||	175	0.0349441	0.1286	0.0058	5008	,	,		18260	0.0		0.001	False		,,,				2504	0.0				p.P1171L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.C3512T						PASS	.	G	LEU/PRO	399,3475		46,307,1584	189	192	191		3512	4.4	1	14	dbSNP_126	191	5,8237		0,5,4116	no	missense	AHNAK2	NM_138420.2	98	46,312,5700	AA,AG,GG		0.0607,10.2994,3.3344	benign	1171/5796	105418276	404,11712	1937	4121	6058	SO:0001583	missense	113146	exon7			AACGATGGCATCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3512C>T	14.37:g.105418276G>A	ENSP00000353114:p.Pro1171Leu	Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	303	140	0.462046	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	60	0.027472527472527472	57	0.11585365853658537	3	0.008287292817679558	0	0.0	0	0.0	g	19.11	3.763478	0.69763	0.102994	6.07E-4	ENSG00000185567	ENST00000333244	T	0.05717	3.4	4.4	4.4	0.53042	.	.	.	.	.	T	0.00552	0.0018	H	0.95712	3.71	0.49483	D	0.999799	D	0.89917	1.0	D	0.91635	0.999	T	0.06826	-1.0805	9	0.72032	D	0.01	-13.4451	16.6046	0.84825	0.0:0.0:1.0:0.0	.	1171	Q8IVF2	AHNK2_HUMAN	L	1171	ENSP00000353114:P1171L	ENSP00000353114:P1171L	P	-	2	0	AHNAK2	104489321	1.000000	0.71417	0.967000	0.41034	0.114000	0.19823	5.979000	0.70508	1.998000	0.58463	0.491000	0.48974	CCA	G|0.978;A|0.022	0.022	strong		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418276	G	A	105418276	3	1	22	1	0	0	0	0	1	0	0	0	415	1348	47	2	13879	2	AHNAK2	14	105418276	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	105418276	1931264	7589	12697	269	2	27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105418938	105418938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcgggggctgtcacttcCgccttggggcctttcaggtc	13	14	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105418938C>T	ENST00000333244.5	-	7	2969	c.2850G>A	c.(2848-2850)gcG>gcA	p.A950A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	950						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCACTTCCGCCTTGGGGC	0.617																																					p.A950A		Atlas-SNP	.											AHNAK2_ENST00000333244,colon,carcinoma,-1,1	AHNAK2	719	1	0			c.G2850A						scavenged	.						139	163	156					14																	105418938		1929	4116	6045	SO:0001819	synonymous_variant	113146	exon7			CACTTCCGCCTTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2850G>A	14.37:g.105418938C>T		Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	287	5	0.0174216	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.	.	none		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105418938	C	T	105418938	2	4	22	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105418938	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	662	105418938	1930602	7590	12698			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105420927	105420927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacgtcatgtgcgtccctAggttcgtaggcctctgacga	12	12	2	1	rs879210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105420927A>G	ENST00000333244.5	-	7	980	c.861T>C	c.(859-861)ccT>ccC	p.P287P	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	287						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGCGTCCCTAGGTTCGTAGG	0.622													G|||	1576	0.314696	0.3359	0.2968	5008	,	,		16825	0.0754		0.4652	False		,,,				2504	0.3906				p.P287P		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2	719	1	0			c.T861C						PASS	.	G		1488,2710		285,918,896	36	39	38		861	-6.7	0	14	dbSNP_86	38	3879,4545		915,2049,1248	no	coding-synonymous	AHNAK2	NM_138420.2		1200,2967,2144	GG,GA,AA		46.047,35.4455,42.521		287/5796	105420927	5367,7255	2099	4212	6311	SO:0001819	synonymous_variant	113146	exon7			GTCCCTAGGTTCG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.861T>C	14.37:g.105420927A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.677;G|0.323	0.323	strong		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105420927	A	G	105420927	2	3	22	1	0	0	0	0	0	0	0	1	415	407	15	3		3	AHNAK2	14	105420927	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1989	105420927	1928613	7591	12699			27	56	84960992	64	51	15329	N	T_G_C_A	1.162e-30
CDCA4	55038	hgsc.bcm.edu	37	chr14	105477613	105477613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagctggagctagggccTggggtggccggagccaagcc	18	11	0	0	rs7145565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105477613T>C	ENST00000336219.3	-	2	809	c.654A>G	c.(652-654)ccA>ccG	p.P218P	CDCA4_ENST00000392590.3_Silent_p.P218P	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	218						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGCTAGGGCCTGGGGTGGCCG	0.677													N|||	1424	0.284345	0.6059	0.2334	5008	,	,		14454	0.2282		0.1322	False		,,,				2504	0.1002				p.P218P		Atlas-SNP	.											.	CDCA4	18	.	0			c.A654G						PASS	.	C	,	2123,2281		537,1049,616	23	25	24		654,654	-9.3	0	14	dbSNP_116	24	915,7681		41,833,3424	no	coding-synonymous,coding-synonymous	CDCA4	NM_017955.3,NM_145701.2	,	578,1882,4040	CC,CT,TT		10.6445,48.2062,23.3692	,	218/242,218/242	105477613	3038,9962	2202	4298	6500	SO:0001819	synonymous_variant	55038	exon2			AGGGCCTGGGGTG	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.654A>G	14.37:g.105477613T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	96	39	0.40625	NM_017955	Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	CCDS9996.1																																																																																			T|0.770;C|0.230	0.230	strong		0.677	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		C	105477613	T	C	105477613	2	2	22	1	0	0	0	0	0	0	0	1	3088	1567	55	3		3	CDCA4	14	105477613	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56686	105477613	1871927	7592	12700										
JAG2	3714	hgsc.bcm.edu	37	chr14	105609161	105609161	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtgaatttgtgtgagagGaacttctccgcctccaggga	13	8	1	2	rs61750260	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105609161G>A	ENST00000331782.3	-	26	3991	c.3588C>T	c.(3586-3588)ttC>ttT	p.F1196F	JAG2_ENST00000347004.2_Silent_p.F1158F	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1196					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTGTGAGAGGAACTTCTCCG	0.692													G|||	210	0.0419329	0.1498	0.0144	5008	,	,		10476	0.0		0.002	False		,,,				2504	0.0				p.F1196F		Atlas-SNP	.											.	JAG2	69	.	0			c.C3588T						PASS	.	G	,	476,3928	189.9+/-215.9	34,408,1760	28	27	27		3588,3474	4	1	14	dbSNP_129	27	8,8590	3.7+/-12.6	0,8,4291	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	34,416,6051	AA,AG,GG		0.093,10.8084,3.7225	,	1196/1239,1158/1201	105609161	484,12518	2202	4299	6501	SO:0001819	synonymous_variant	3714	exon26			TGAGAGGAACTTC	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3588C>T	14.37:g.105609161G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	58	28	0.482759	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																			G|0.961;A|0.039	0.039	strong		0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105609161	G	A	105609161	2	1	22	1	0	0	0	0	0	0	0	1	7935	1165	41	2		2	JAG2	14	105609161	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131548	105609161	1740379	7593	12701										
JAG2	3714	hgsc.bcm.edu	37	chr14	105622157	105622157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtagtggccgaaaaagtcGttgcggggccggcagaactt	16	8	0	1	rs61750261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105622157G>A	ENST00000331782.3	-	4	1048	c.645C>T	c.(643-645)aaC>aaT	p.N215N	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.N215N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	215	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGAAAAAGTCGTTGCGGGGCC	0.637													G|||	147	0.029353	0.1074	0.0072	5008	,	,		16759	0.0		0.0	False		,,,				2504	0.0				p.N215N		Atlas-SNP	.											.	JAG2	69	.	0			c.C645T						PASS	.	G	,	361,4031	179.7+/-208.2	15,331,1850	85	62	70		645,645	-3.3	1	14	dbSNP_129	70	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	15,332,6146	AA,AG,GG		0.0116,8.2195,2.7876	,	215/1239,215/1201	105622157	362,12624	2196	4297	6493	SO:0001819	synonymous_variant	3714	exon4			AAAGTCGTTGCGG	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.645C>T	14.37:g.105622157G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	153	68	0.444444	NM_145159	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																			G|0.974;A|0.026	0.026	strong		0.637	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105622157	G	A	105622157	2	1	22	1	0	0	0	0	0	0	0	1	7935	1136	40	1		1	JAG2	14	105622157	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12996	105622157	1727383	7594	12702										
PACS2	23241	hgsc.bcm.edu	37	chr14	105821457	105821457	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgcagaaagcgctacaaGaacagaaccatcctgggcta	10	12	0	3	rs61738367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105821457G>A	ENST00000325438.8	+	4	870	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PACS2_ENST00000458164.2_Silent_p.K122K|PACS2_ENST00000447393.1_Silent_p.K122K|PACS2_ENST00000430725.2_Silent_p.K55K|PACS2_ENST00000547217.1_Silent_p.K92K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	122					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGCGCTACAAGAACAGAACCA	0.602													G|||	56	0.0111821	0.0416	0.0	5008	,	,		19971	0.0		0.001	False		,,,				2504	0.0				p.K122K		Atlas-SNP	.											.	PACS2	75	.	0			c.G366A						PASS	.	G	,	200,4206	123.3+/-160.7	7,186,2010	78	64	69		366,366	-3.3	0.9	14	dbSNP_129	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PACS2	NM_001100913.2,NM_015197.3	,	7,187,6309	AA,AG,GG		0.0116,4.5393,1.5454	,	122/894,122/890	105821457	201,12805	2203	4300	6503	SO:0001819	synonymous_variant	23241	exon4			CTACAAGAACAGA	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.366G>A	14.37:g.105821457G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	CCDS32168.1																																																																																			G|0.986;A|0.014	0.014	strong		0.602	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		A	105821457	G	A	105821457	2	1	22	1	0	0	0	0	0	0	0	1	11373	933	33	2		2	PACS2	14	105821457	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	199300	105821457	1528083	7595	12703										
PACS2	23241	hgsc.bcm.edu	37	chr14	105843179	105843179	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggacctcctgtatgacacCctggacatggagcaccccag	10	15	0	1	rs4074004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105843179C>G	ENST00000325438.8	+	9	1380	c.876C>G	c.(874-876)acC>acG	p.T292T	PACS2_ENST00000458164.2_Silent_p.T292T|PACS2_ENST00000447393.1_Silent_p.T292T|PACS2_ENST00000430725.2_Silent_p.T217T|PACS2_ENST00000547217.1_Silent_p.T262T			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	292					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGTATGACACCCTGGACATGG	0.677													G|||	666	0.132987	0.4682	0.0259	5008	,	,		17184	0.0179		0.0	False		,,,				2504	0.0112				p.T292T		Atlas-SNP	.											.	PACS2	75	.	0			c.C876G						PASS	.	G	,	1757,2647	642.0+/-397.6	367,1023,812	82	72	76		876,876	-9.2	0.7	14	dbSNP_108	76	13,8587	817.4+/-406.9	0,13,4287	no	coding-synonymous,coding-synonymous	PACS2	NM_001100913.2,NM_015197.3	,	367,1036,5099	GG,GC,CC		0.1512,39.8955,13.6112	,	292/894,292/890	105843179	1770,11234	2202	4300	6502	SO:0001819	synonymous_variant	23241	exon9			TGACACCCTGGAC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.876C>G	14.37:g.105843179C>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	CCDS32168.1																																																																																			C|0.880;G|0.120	0.120	strong		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		G	105843179	C	G	105843179	2	3	22	1	0	0	0	0	0	0	0	1	11373	610	22	4		4	PACS2	14	105843179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21722	105843179	1506361	7596	12704										
PACS2	23241	hgsc.bcm.edu	37	chr14	105848891	105848891	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccgaaaacatcatcctTgtcaacacctcggactggca	6	15	2	0	rs4076933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105848891T>C	ENST00000325438.8	+	14	1983	c.1479T>C	c.(1477-1479)ctT>ctC	p.L493L	PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000547217.1_Silent_p.L463L|PACS2_ENST00000458164.2_Silent_p.L497L|PACS2_ENST00000430725.2_Silent_p.L418L|PACS2_ENST00000447393.1_Silent_p.L497L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	493			L -> S (in dbSNP:rs4076933).		apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACATCATCCTTGTCAACACCT	0.582													C|||	684	0.136581	0.4849	0.0202	5008	,	,		20860	0.0179		0.0	False		,,,				2504	0.0112				p.L497L		Atlas-SNP	.											.	PACS2	75	.	0			c.T1491C						PASS	.	C	,	1758,2648	645.5+/-398.2	360,1038,805	233	188	203		1491,1479	-9.1	0	14	dbSNP_108	203	14,8586	818.6+/-406.8	0,14,4286	no	coding-synonymous,coding-synonymous	PACS2	NM_001100913.2,NM_015197.3	,	360,1052,5091	CC,CT,TT		0.1628,39.9001,13.6245	,	497/894,493/890	105848891	1772,11234	2203	4300	6503	SO:0001819	synonymous_variant	23241	exon14			CATCCTTGTCAAC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1479T>C	14.37:g.105848891T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	CCDS32168.1																																																																																			T|0.861;C|0.139	0.139	strong		0.582	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		C	105848891	T	C	105848891	2	2	22	1	0	0	0	0	0	0	0	1	11373	1799	63	2		2	PACS2	14	105848891	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5712	105848891	1500649	7597	12705										
PACS2	23241	hgsc.bcm.edu	37	chr14	105860919	105860919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacggcgtggagtgcagcgaCgtcaagttcttccagctggc	15	11	2	0	rs201014934		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105860919C>T	ENST00000325438.8	+	24	3084	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	PACS2_ENST00000458164.2_Silent_p.D875D|PACS2_ENST00000551743.1_Silent_p.D374D|PACS2_ENST00000447393.1_Silent_p.D864D|PACS2_ENST00000551801.1_Silent_p.D61D|PACS2_ENST00000430725.2_Silent_p.D785D|PACS2_ENST00000547217.1_Silent_p.D830D			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	860					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGCAGCGACGTCAAGTTCT	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17322	0.0		0.0	False		,,,				2504	0.0				p.D875D		Atlas-SNP	.											PACS2,NS,carcinoma,+2,1	PACS2	75	1	0			c.C2625T						scavenged	.	C	,	1,4405	2.1+/-5.4	0,1,2202	131	97	109		2592,2580	-2	0.9	14		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PACS2	NM_001100913.2,NM_015197.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	864/894,860/890	105860919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23241	exon25			CAGCGACGTCAAG	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2580C>T	14.37:g.105860919C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	122	2	0.0163934	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	CCDS32168.1																																																																																			C|1.000;T|0.000	0.000	strong		0.667	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		T	105860919	C	T	105860919	2	4	22	1	0	0	0	0	0	0	0	1	11373	535	19	1		1	PACS2	14	105860919	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12028	105860919	1488621	7598	12706										
MTA1	9112	hgsc.bcm.edu	37	chr14	105931109	105931109	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgacgaagctgacgcggatCgcccggcgcctgtgccgtga	15	14	0	2	rs36015555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105931109C>T	ENST00000331320.7	+	15	1657	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	MTA1_ENST00000406191.1_Silent_p.I481I|MTA1_ENST00000435036.2_Silent_p.I17I|MTA1_ENST00000405646.1_Silent_p.I464I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	481					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGACGCGGATCGCCCGGCGCC	0.672													C|||	257	0.0513179	0.1884	0.0115	5008	,	,		16374	0.0		0.0	False		,,,				2504	0.0				p.I481I		Atlas-SNP	.											.	MTA1	61	.	0			c.C1443T						PASS	.	C	,	712,3684		67,578,1553	32	28	29		,1443	-1.1	0.9	14	dbSNP_126	29	7,8587		0,7,4290	no	utr-3,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	,	67,585,5843	TT,TC,CC		0.0815,16.1965,5.535	,	,481/716	105931109	719,12271	2198	4297	6495	SO:0001819	synonymous_variant	9112	exon15			GCGGATCGCCCGG	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1443C>T	14.37:g.105931109C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	60	39	0.65	NM_004689	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	CCDS32169.1																																																																																			C|0.947;T|0.053	0.053	strong		0.672	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			T	105931109	C	T	105931109	2	4	22	1	0	0	0	0	0	0	0	1	9908	874	31	1		1	MTA1	14	105931109	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70190	105931109	1418431	7599	12707										
CRIP1	1396	hgsc.bcm.edu	37	chr14	105954682	105954682	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcagcacgaaggcaaaccCtactgcaaccacccctgcta	7	16	0	0	rs1128308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105954682C>G	ENST00000330233.7	+	3	1093	c.150C>G	c.(148-150)ccC>ccG	p.P50P	CRIP1_ENST00000551180.1_Missense_Mutation_p.L19V|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000354560.6_5'Flank|CRIP1_ENST00000392531.3_Silent_p.P50P|C14orf80_ENST00000392522.3_5'Flank|C14orf80_ENST00000392523.4_5'Flank|CRIP1_ENST00000409393.2_Silent_p.P50P|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	50	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AAGGCAAACCCTACTGCAACC	0.662													C|||	892	0.178115	0.5961	0.0663	5008	,	,		10889	0.002		0.0249	False		,,,				2504	0.0317				p.P50P		Atlas-SNP	.											.	CRIP1	1	.	0			c.C150G						PASS	.	C		2177,2227	560.5+/-380.5	572,1033,597	47	65	59		150	0.9	1	14	dbSNP_86	59	179,8421	78.9+/-141.6	0,179,4121	no	coding-synonymous	CRIP1	NM_001311.4		572,1212,4718	GG,GC,CC		2.0814,49.4323,18.1175		50/78	105954682	2356,10648	2202	4300	6502	SO:0001819	synonymous_variant	1396	exon4			CAAACCCTACTGC		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.150C>G	14.37:g.105954682C>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	130	72	0.553846	NM_001311	H3BPI2|Q13628|Q53XY7|Q96J34	Silent	SNP	ENST00000330233.7	37	CCDS10004.1																																																																																			C|0.834;G|0.166	0.166	strong		0.662	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		G	105954682	C	G	105954682	2	3	22	1	0	0	0	0	0	0	0	1	3874	668	24	4		4	CRIP1	14	105954682	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23573	105954682	1394858	7600	12708										
C14orf80	283643	hgsc.bcm.edu	37	chr14	105957446	105957446	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgattggatgcatgtccGgccagcgcggtgattgggta	16	8	0	2	rs76864584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105957446G>A	ENST00000392523.4	+	0	0				CRIP1_ENST00000551180.1_3'UTR|C14orf80_ENST00000329886.7_Missense_Mutation_p.G3S|C14orf80_ENST00000354560.6_5'Flank|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000450383.1_5'Flank|C14orf80_ENST00000392522.3_5'Flank|C14orf80_ENST00000334656.7_Missense_Mutation_p.G3S|C14orf80_ENST00000392527.1_Missense_Mutation_p.G3S			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80											central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ATGCATGTCCGGCCAGCGCGG	0.627													G|||	273	0.0545128	0.202	0.0086	5008	,	,		12847	0.0		0.0	False		,,,				2504	0.0				p.G3S		Atlas-SNP	.											.	C14orf80	19	.	0			c.G7A						PASS	.						115	102	106					14																	105957446		692	1591	2283	SO:0001631	upstream_gene_variant	283643	exon2			ATGTCCGGCCAGC		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426		14.37:g.105957446G>A	Exception_encountered	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	168	91	0.541667	NM_001134877	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	ENST00000392523.4	37		96	0.04395604395604396	91	0.18495934959349594	5	0.013812154696132596	0	0.0	0	0.0	G	12.89	2.073301	0.36566	.	.	ENSG00000185347	ENST00000329886;ENST00000427614;ENST00000455454;ENST00000432805;ENST00000392527;ENST00000443229;ENST00000334656	.	.	.	1.43	0.424	0.16468	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	D;D	0.62365	0.991;0.991	P;P	0.45610	0.487;0.487	T	0.17471	-1.0368	7	0.87932	D	0	.	6.8588	0.24056	0.0:0.0:0.7222:0.2778	.	3;3	B5MDG3;Q86SX3-3	.;.	S	3	.	ENSP00000333010:G3S	G	+	1	0	C14orf80	105028491	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.549000	0.02182	-0.096000	0.12329	-0.708000	0.03648	GGC	G|0.956;A|0.044	0.044	strong		0.627	C14orf80-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409090.1	NM_001134875		A	105957446	G	A	105957446	1	1	22	0	1	0	0	0	0	0	0	0	1781	1116	39	1		1	C14orf80	14	105957446	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2764	105957446	1392094	7601	12709										
C14orf80	283643	hgsc.bcm.edu	37	chr14	105958010	105958010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctctcgccactccctgcgGgcaacgccttggcatcgctc	10	18	1	0	rs587675709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr14:105958010G>T	ENST00000392523.4	+	2	320	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	C14orf80_ENST00000329886.7_Missense_Mutation_p.G28C|C14orf80_ENST00000354560.6_Missense_Mutation_p.G67C|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000450383.1_5'UTR|C14orf80_ENST00000392522.3_Missense_Mutation_p.G67C|C14orf80_ENST00000334656.7_Missense_Mutation_p.G26C|C14orf80_ENST00000392527.1_Missense_Mutation_p.G26C			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	67										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ACTCCCTGCGGGCAACGCCTT	0.692													G|||	4	0.000798722	0.003	0.0	5008	,	,		10467	0.0		0.0	False		,,,				2504	0.0				p.G67C		Atlas-SNP	.											.	C14orf80	19	.	0			c.G199T						PASS	.						12	13	13					14																	105958010		692	1587	2279	SO:0001583	missense	283643	exon2			CCTGCGGGCAACG		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.199G>T	14.37:g.105958010G>T	ENSP00000376308:p.Gly67Cys	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	154	77	0.5	NM_001134876	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	ENST00000392523.4	37		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331819	0.60853	.	.	ENSG00000185347	ENST00000329886;ENST00000427614;ENST00000455454;ENST00000432805;ENST00000392527;ENST00000443229;ENST00000334656;ENST00000392522;ENST00000392523;ENST00000354560;ENST00000548920	.	.	.	5.35	-5.54	0.02544	.	2.792540	0.01787	N	0.032086	T	0.22820	0.0551	L	0.40543	1.245	0.09310	N	1	B;P;B;P;B	0.50272	0.002;0.933;0.007;0.932;0.015	B;B;B;B;B	0.43445	0.002;0.394;0.002;0.42;0.009	T	0.37407	-0.9707	9	0.48119	T	0.1	-2.1135	2.1586	0.03819	0.2184:0.4083:0.1687:0.2046	.	67;67;67;26;28	Q86SX3-2;E9PAQ4;Q86SX3;B5MDG3;Q86SX3-3	.;.;CN080_HUMAN;.;.	C	28;26;26;26;26;26;26;67;67;67;67	.	ENSP00000333010:G28C	G	+	1	0	C14orf80	105029055	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.676000	0.05238	0.561000	0.74099	GGC	.	.	none		0.692	C14orf80-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409090.1	NM_001134875		T	105958010	G	T	105958010	3	4	22	1	0	0	0	0	1	0	0	0	1781	1232	43	4	233	4	C14orf80	14	105958010	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	564	105958010	1391530	7602	12710										
CYFIP1	23191	hgsc.bcm.edu	37	chr15	22925851	22925851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggagctgcccctgccCgaccagcagccctgcatcga	12	17	0	0	rs4134802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:22925851C>T	ENST00000313077.7	+	2	194	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CYFIP1_ENST00000560848.1_Silent_p.P23P	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGCCCCTGCCCGACCAGCAGC	0.667													C|||	886	0.176917	0.3427	0.1412	5008	,	,		15649	0.003		0.2207	False		,,,				2504	0.1125				p.P23P		Atlas-SNP	.											.	CYFIP1	159	.	0			c.C69T						PASS	.	C		1456,2950	467.2+/-354.7	231,994,978	42	41	41		69	-10.9	0	15	dbSNP_108	41	1820,6780	325.8+/-317.1	185,1450,2665	no	coding-synonymous	CYFIP1	NM_014608.2		416,2444,3643	TT,TC,CC		21.1628,33.0458,25.1884		23/1254	22925851	3276,9730	2203	4300	6503	SO:0001819	synonymous_variant	23191	exon2			CCTGCCCGACCAG	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.69C>T	15.37:g.22925851C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	103	57	0.553398	NM_014608		Silent	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																			C|0.769;T|0.231	0.231	strong		0.667	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22925851	C	T	22925851	2	4	22	1	0	0	0	0	0	0	0	1	4137	639	23	1		1	CYFIP1	15	22925851	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10		22925851	79605541	7603	12711										
CYFIP1	23191	hgsc.bcm.edu	37	chr15	22939192	22939192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaactccaggtggttccGctatttggggacatgcaaat	11	10	0	0	rs11633474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:22939192G>A	ENST00000313077.7	+	10	1043	c.918G>A	c.(916-918)ccG>ccA	p.P306P	CYFIP1_ENST00000560848.1_Silent_p.P306P	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGGTGGTTCCGCTATTTGGGG	0.408													g|||	1653	0.330072	0.3457	0.4741	5008	,	,		15404	0.1141		0.505	False		,,,				2504	0.2495				p.P306P		Atlas-SNP	.											CYFIP1,NS,carcinoma,0,1	CYFIP1	159	1	0			c.G918A						PASS	.	A		1543,2863	482.8+/-359.5	263,1017,923	132	142	138		918	-11.3	0.1	15	dbSNP_120	138	4258,4342	574.3+/-390.0	1083,2092,1125	no	coding-synonymous	CYFIP1	NM_014608.2		1346,3109,2048	AA,AG,GG		49.5116,35.0204,44.6025		306/1254	22939192	5801,7205	2203	4300	6503	SO:0001819	synonymous_variant	23191	exon10			GGTTCCGCTATTT	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.918G>A	15.37:g.22939192G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	176	80	0.454545	NM_014608		Silent	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																			G|0.574;A|0.426	0.426	strong		0.408	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		A	22939192	G	A	22939192	2	1	22	1	0	0	0	0	0	0	0	1	4137	1074	38	1		1	CYFIP1	15	22939192	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13341	22939192	79592200	7604	12712										
MKRN3	7681	hgsc.bcm.edu	37	chr15	23811592	23811592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgggttgcatctgccccCgaggctcctctacagagctc	11	16	2	1	rs2239669	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:23811592C>T	ENST00000314520.3	+	1	1139	c.663C>T	c.(661-663)ccC>ccT	p.P221P	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	221					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CATCTGCCCCCGAGGCTCCTC	0.592													C|||	1051	0.209864	0.1596	0.1715	5008	,	,		17393	0.1875		0.3161	False		,,,				2504	0.2188				p.P221P		Atlas-SNP	.											.	MKRN3	155	.	0			c.C663T						PASS	.	C		794,3612	313.3+/-293.0	58,678,1467	47	52	50		663	-8.1	0	15	dbSNP_98	50	2651,5949	420.5+/-353.4	421,1809,2070	no	coding-synonymous	MKRN3	NM_005664.3		479,2487,3537	TT,TC,CC		30.8256,18.0209,26.4878		221/508	23811592	3445,9561	2203	4300	6503	SO:0001819	synonymous_variant	7681	exon1			TGCCCCCGAGGCT	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.663C>T	15.37:g.23811592C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	28	0.4375	NM_005664		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																			C|0.745;A|0.002	.	strong		0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811592	C	T	23811592	2	4	22	1	0	0	0	0	0	0	0	1	9608	639	23	1		1	MKRN3	15	23811592	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	872400	23811592	78719800	7605	12713										
C15orf2	23742	hgsc.bcm.edu	37	chr15	24922407	24922407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctaactctcctctggctCttcctgctgaccttgttccc	5	18	3	1	rs79339610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:24922407C>T	ENST00000329468.2	+	1	1867	c.1393C>T	c.(1393-1395)Ctt>Ttt	p.L465F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	465	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCTCTGGCTCTTCCTGCTGA	0.502													C|||	18	0.00359425	0.0121	0.0	5008	,	,		20216	0.0		0.002	False		,,,				2504	0.0				p.L465F		Atlas-SNP	.											C15orf2,colon,carcinoma,0,1	.	.	1	0			c.C1393T						PASS	.	C	PHE/LEU	56,4350		1,54,2148	191	185	187		1393	-4.1	0	15	dbSNP_131	187	1,8599		0,1,4299	yes	missense	C15orf2	NM_018958.2	22	1,55,6447	TT,TC,CC		0.0116,1.271,0.4383	probably-damaging	465/1157	24922407	57,12949	2203	4300	6503	SO:0001583	missense	23742	exon1			CTGGCTCTTCCTG	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1393C>T	15.37:g.24922407C>T	ENSP00000333735:p.Leu465Phe	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	107	41	0.383178	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	0	0.0	1	0.0013192612137203166	.	12.35	1.912039	0.33721	0.01271	1.16E-4	ENSG00000185823	ENST00000329468	T	0.10860	2.83	2.07	-4.13	0.03904	.	2.992630	0.01188	N	0.007259	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	B	0.31383	0.321	B	0.31614	0.133	T	0.14615	-1.0466	10	0.24483	T	0.36	.	2.191	0.03899	0.2812:0.1844:0.4144:0.12	.	465	Q9NZP6	CO002_HUMAN	F	465	ENSP00000333735:L465F	ENSP00000333735:L465F	L	+	1	0	C15orf2	22473500	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-2.799000	0.00762	-2.586000	0.00459	0.313000	0.20887	CTT	C|0.996;T|0.004	0.004	strong		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24922407	C	T	24922407	3	4	22	1	0	0	0	0	1	0	0	0	1784	913	32	2	1395	2	C15orf2	15	24922407	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1110815	24922407	77608985	7606	12714										
UBE3A	7337	hgsc.bcm.edu	37	chr15	25616844	25616844	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccggaagctctgtaccaaTgcctcagcactagaaaaaac	7	12	2	1	rs28528079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25616844T>A	ENST00000397954.2	-	4	485	c.486A>T	c.(484-486)gcA>gcT	p.A162A	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.A139A|UBE3A_ENST00000428984.2_Silent_p.A139A|UBE3A_ENST00000232165.3_Silent_p.A159A|UBE3A_ENST00000438097.1_Silent_p.A139A			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	162					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCTGTACCAATGCCTCAGCAC	0.363													T|||	167	0.0333466	0.1172	0.0144	5008	,	,		19091	0.0		0.001	False		,,,				2504	0.001				p.A162A		Atlas-SNP	.											.	UBE3A	109	.	0			c.A486T						PASS	.	T	,,	406,4000	196.0+/-220.5	19,368,1816	104	106	105		486,417,477	-0.7	1	15	dbSNP_125	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	UBE3A	NM_000462.3,NM_130838.1,NM_130839.2	,,	19,369,6115	AA,AT,TT		0.0116,9.2147,3.1293	,,	162/876,139/853,159/873	25616844	407,12599	2203	4300	6503	SO:0001819	synonymous_variant	7337	exon7			TACCAATGCCTCA	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.486A>T	15.37:g.25616844T>A		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	341	169	0.495601	NM_000462	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	CCDS45192.1																																																																																			T|0.958;A|0.042	0.042	strong		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		A	25616844	T	A	25616844	2	1	22	1	0	0	0	0	0	0	0	1	16876	1451	51	5		5	UBE3A	15	25616844	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	694437	25616844	76914548	7607	12715										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25924539	25924539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtagtctgtggtctggcccTtgaagtcctgatcggcctga	13	10	2	3	rs1047700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25924539T>C	ENST00000356865.6	-	21	4560	c.4449A>G	c.(4447-4449)caA>caG	p.Q1483Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1483					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTCTGGCCCTTGAAGTCCTG	0.473													C|||	1334	0.266374	0.4153	0.3386	5008	,	,		13468	0.2748		0.1382	False		,,,				2504	0.137				p.Q1483Q		Atlas-SNP	.											.	ATP10A	270	.	0			c.A4449G						PASS	.	C		1631,2775	643.7+/-397.9	298,1035,870	58	63	61		4449	-4.4	0	15	dbSNP_86	61	1339,7261	749.9+/-407.4	99,1141,3060	no	coding-synonymous	ATP10A	NM_024490.3		397,2176,3930	CC,CT,TT		15.5698,37.0177,22.8356		1483/1500	25924539	2970,10036	2203	4300	6503	SO:0001819	synonymous_variant	57194	exon21			TGGCCCTTGAAGT	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4449A>G	15.37:g.25924539T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	48	26	0.541667	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			T|0.749;C|0.251	0.251	strong		0.473	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		C	25924539	T	C	25924539	2	2	22	1	0	0	0	0	0	0	0	1	1116	1606	56	3		3	ATP10A	15	25924539	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	307695	25924539	76606853	7608	12716										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25926179	25926179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaccaggctctggaaggCggcgtcggccatgttaaacc	13	12	1	0	rs2076744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25926179C>T	ENST00000356865.6	-	18	3646	c.3535G>A	c.(3535-3537)Gcc>Acc	p.A1179T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1179			A -> T (in dbSNP:rs2076744).		ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCTGGAAGGCGGCGTCGGCC	0.517													c|||	1413	0.282149	0.4735	0.3516	5008	,	,		19333	0.2599		0.1441	False		,,,				2504	0.1391				p.A1179T		Atlas-SNP	.											ATP10A,colon,carcinoma,0,1	ATP10A	270	1	0			c.G3535A						PASS	.	C	THR/ALA	1839,2567	535.6+/-374.3	379,1081,743	90	86	87		3535	0.3	0.2	15	dbSNP_96	87	1378,7222	268.2+/-287.7	103,1172,3025	yes	missense	ATP10A	NM_024490.3	58	482,2253,3768	TT,TC,CC		16.0233,41.7385,24.7347	benign	1179/1500	25926179	3217,9789	2203	4300	6503	SO:0001583	missense	57194	exon18			GGAAGGCGGCGTC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3535G>A	15.37:g.25926179C>T	ENSP00000349325:p.Ala1179Thr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	637	0.2916666666666667	239	0.48577235772357724	118	0.3259668508287293	172	0.3006993006993007	108	0.1424802110817942	c	8.127	0.782181	0.16189	0.417385	0.160233	ENSG00000206190	ENST00000356865	T	0.43688	0.94	4.84	0.298	0.15766	.	0.495561	0.22824	N	0.055187	T	0.00012	0.0000	N	0.11255	0.115	0.53005	P	3.399999999997849E-5	P	0.38729	0.644	B	0.28849	0.095	T	0.47355	-0.9124	9	0.48119	T	0.1	-16.3478	1.5902	0.02653	0.2175:0.4237:0.1137:0.2452	rs2076744;rs2076744	1179	O60312	AT10A_HUMAN	T	1179	ENSP00000349325:A1179T	ENSP00000349325:A1179T	A	-	1	0	ATP10A	23477272	0.152000	0.22762	0.210000	0.23637	0.050000	0.14768	0.681000	0.25320	0.111000	0.17947	-1.349000	0.01238	GCC	C|0.734;T|0.266	0.266	strong		0.517	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25926179	C	T	25926179	3	4	22	1	0	0	0	0	1	0	0	0	1116	768	27	1	980	1	ATP10A	15	25926179	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1640	25926179	76605213	7609	12717										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25928508	25928508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacatccctgtccagcacCccagtcacgagcgggggaag	13	15	1	0	rs142960034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25928508C>T	ENST00000356865.6	-	17	3528	c.3417G>A	c.(3415-3417)ggG>ggA	p.G1139G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1139					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTCCAGCACCCCAGTCACGA	0.537													C|||	19	0.00379393	0.0144	0.0	5008	,	,		17004	0.0		0.0	False		,,,				2504	0.0				p.G1139G		Atlas-SNP	.											.	ATP10A	270	.	0			c.G3417A						PASS	.	C		63,4343	59.3+/-96.0	0,63,2140	75	66	69		3417	2.5	1	15	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	ATP10A	NM_024490.3		0,63,6440	TT,TC,CC		0.0,1.4299,0.4844		1139/1500	25928508	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	57194	exon17			CAGCACCCCAGTC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3417G>A	15.37:g.25928508C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	148	73	0.493243	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			C|0.996;T|0.004	0.004	strong		0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25928508	C	T	25928508	2	4	22	1	0	0	0	0	0	0	0	1	1116	610	22	2		2	ATP10A	15	25928508	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2329	25928508	76602884	7610	12718										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25959298	25959298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggctcccgatgctgcTgcagcctgaggtcaggcagc	15	14	1	1	rs141928852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25959298T>C	ENST00000356865.6	-	10	1978	c.1867A>G	c.(1867-1869)Agc>Ggc	p.S623G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	623					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCGATGCTGCTGCAGCCTGAG	0.617													T|||	18	0.00359425	0.0136	0.0	5008	,	,		14466	0.0		0.0	False		,,,				2504	0.0				p.S623G		Atlas-SNP	.											.	ATP10A	270	.	0			c.A1867G						PASS	.	T	GLY/SER	50,4356	43.8+/-77.6	0,50,2153	44	49	47		1867	0.6	1	15	dbSNP_134	47	0,8600		0,0,4300	yes	missense	ATP10A	NM_024490.3	56	0,50,6453	CC,CT,TT		0.0,1.1348,0.3844	benign	623/1500	25959298	50,12956	2203	4300	6503	SO:0001583	missense	57194	exon10			TGCTGCTGCAGCC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1867A>G	15.37:g.25959298T>C	ENSP00000349325:p.Ser623Gly	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	11.14	1.550168	0.27652	0.011348	0.0	ENSG00000206190	ENST00000356865	T	0.11604	2.76	4.21	0.576	0.17380	HAD-like domain (1);	0.310582	0.37761	N	0.001944	T	0.04907	0.0132	L	0.35723	1.085	0.41036	D	0.985193	B	0.17038	0.02	B	0.20384	0.029	T	0.34527	-0.9825	10	0.28530	T	0.3	-9.6357	5.3687	0.16127	0.0:0.1605:0.149:0.6905	.	623	O60312	AT10A_HUMAN	G	623	ENSP00000349325:S623G	ENSP00000349325:S623G	S	-	1	0	ATP10A	23510391	1.000000	0.71417	0.952000	0.39060	0.450000	0.32258	3.499000	0.53310	-0.061000	0.13110	0.533000	0.62120	AGC	T|0.997;C|0.003	0.003	strong		0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		C	25959298	T	C	25959298	3	2	22	1	0	0	0	0	1	0	0	0	1116	1580	55	3	2680	3	ATP10A	15	25959298	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30790	25959298	76572094	7611	12719										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25962057	25962057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcagctttgggtcgggCgtgatatccttctcctggga	13	11	1	1	rs115618637	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25962057C>T	ENST00000356865.6	-	9	1707	c.1596G>A	c.(1594-1596)acG>acA	p.T532T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	532			T -> M (in dbSNP:rs2066703).		ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGGTCGGGCGTGATATCCT	0.577													C|||	11	0.00219649	0.0083	0.0	5008	,	,		15659	0.0		0.0	False		,,,				2504	0.0				p.T532T		Atlas-SNP	.											.	ATP10A	270	.	0			c.G1596A						PASS	.	C		36,4370	40.0+/-72.8	0,36,2167	85	63	71		1596	-10.8	0.2	15	dbSNP_132	71	0,8600		0,0,4300	no	coding-synonymous	ATP10A	NM_024490.3		0,36,6467	TT,TC,CC		0.0,0.8171,0.2768		532/1500	25962057	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	57194	exon9			GTCGGGCGTGATA	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1596G>A	15.37:g.25962057C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	113	47	0.415929	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			C|0.998;T|0.002	0.002	strong		0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25962057	C	T	25962057	2	4	22	1	0	0	0	0	0	0	0	1	1116	755	27	1		1	ATP10A	15	25962057	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2759	25962057	76569335	7612	12720										
ATP10A	57194	hgsc.bcm.edu	37	chr15	25963484	25963484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcgctgggacaccgagcCccctctgggcaccacctcct	11	20	1	0	rs116055743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:25963484C>T	ENST00000356865.6	-	8	1537	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	476					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACACCGAGCCCCCTCTGGGC	0.706													C|||	24	0.00479233	0.0182	0.0	5008	,	,		14866	0.0		0.0	False		,,,				2504	0.0				p.G476S		Atlas-SNP	.											.	ATP10A	270	.	0			c.G1426A						PASS	.	C	SER/GLY	84,4314		0,84,2115	29	25	26		1426	0.9	0	15	dbSNP_132	26	0,8594		0,0,4297	yes	missense	ATP10A	NM_024490.3	56	0,84,6412	TT,TC,CC		0.0,1.91,0.6466	benign	476/1500	25963484	84,12908	2199	4297	6496	SO:0001583	missense	57194	exon8			CCGAGCCCCCTCT	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1426G>A	15.37:g.25963484C>T	ENSP00000349325:p.Gly476Ser	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	126	65	0.515873	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	9.534	1.111487	0.20714	0.0191	0.0	ENSG00000206190	ENST00000356865	T	0.64991	-0.13	5.14	0.881	0.19166	HAD-like domain (1);	0.228496	0.44688	N	0.000436	T	0.29684	0.0741	L	0.46741	1.465	0.19300	N	0.999978	B	0.10296	0.003	B	0.11329	0.006	T	0.24261	-1.0165	10	0.07030	T	0.85	-7.1028	8.7017	0.34329	0.0:0.6623:0.0:0.3377	.	476	O60312	AT10A_HUMAN	S	476	ENSP00000349325:G476S	ENSP00000349325:G476S	G	-	1	0	ATP10A	23514577	0.382000	0.25148	0.000000	0.03702	0.225000	0.24961	2.423000	0.44705	-0.104000	0.12154	0.655000	0.94253	GGC	C|0.994;T|0.006	0.006	strong		0.706	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25963484	C	T	25963484	3	4	22	1	0	0	0	0	1	0	0	0	1116	623	22	2	3129	2	ATP10A	15	25963484	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1427	25963484	76567908	7613	12721										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27222266	27222266	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaacaagttgctaagagaAtatgataaaaagctgaggcc	9	7	1	3	rs35752220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:27222266A>G	ENST00000333743.6	+	2	425	c.171A>G	c.(169-171)gaA>gaG	p.E57E	GABRG3_ENST00000555083.1_Silent_p.E57E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	57					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTAAGAGAATATGATAAAA	0.348													A|||	182	0.0363419	0.1316	0.0101	5008	,	,		19188	0.0		0.001	False		,,,				2504	0.0				p.E57E	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.A171G						PASS	.	A		345,3291		16,313,1489	99	99	99		171	3	1	15	dbSNP_126	99	3,8149		0,3,4073	no	coding-synonymous	GABRG3	NM_033223.4		16,316,5562	GG,GA,AA		0.0368,9.4884,2.9522		57/468	27222266	348,11440	1818	4076	5894	SO:0001819	synonymous_variant	2567	exon2			AAGAGAATATGAT		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.171A>G	15.37:g.27222266A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	122	53	0.434426	NM_001270873	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1																																																																																			A|0.970;G|0.030	0.030	strong		0.348	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			G	27222266	A	G	27222266	2	3	22	1	0	0	0	0	0	0	0	1	6173	98	4	2		2	GABRG3	15	27222266	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1258782	27222266	75309126	7614	12722										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27573968	27573968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaggctcaccatcaatgcTgagtgccagctgcagctgca	11	14	2	1	rs140674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:27573968T>C	ENST00000333743.6	+	5	761	c.507T>C	c.(505-507)gcT>gcC	p.A169A	GABRG3_ENST00000555083.1_Silent_p.A169A	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	169					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATCAATGCTGAGTGCCAGC	0.602													C|||	745	0.148762	0.4017	0.0476	5008	,	,		19692	0.0635		0.0169	False		,,,				2504	0.1022				p.A169A	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.T507C						PASS	.	C		1375,2907		231,913,997	74	77	76		507	-10.7	0	15	dbSNP_78	76	134,8364		4,126,4119	no	coding-synonymous	GABRG3	NM_033223.4		235,1039,5116	CC,CT,TT		1.5768,32.1112,11.8075		169/468	27573968	1509,11271	2141	4249	6390	SO:0001819	synonymous_variant	2567	exon5			CAATGCTGAGTGC		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.507T>C	15.37:g.27573968T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	156	68	0.435897	NM_001270873	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1	271	0.12408424908424909	200	0.4065040650406504	23	0.06353591160220995	39	0.06818181818181818	9	0.011873350923482849	C	7.549	0.662224	0.14645	0.321112	0.015768	ENSG00000182256	ENST00000557596	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999908	.	.	.	.	.	.	T	0.33163	-0.9879	3	.	.	.	.	1.2369	0.01955	0.1779:0.3201:0.1976:0.3044	rs140674;rs4129457	.	.	.	P	2	.	.	L	+	2	0	GABRG3	25156714	0.000000	0.05858	0.039000	0.18376	0.662000	0.39071	-2.239000	0.01198	-2.502000	0.00509	-2.107000	0.00358	CTG	T|0.896;C|0.104	0.104	strong		0.602	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			C	27573968	T	C	27573968	2	2	22	1	0	0	0	0	0	0	0	1	6173	1567	55	3		3	GABRG3	15	27573968	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	351702	27573968	74957424	7615	12723										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27765155	27765155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actatatattttgaattgagTagaagaatgggatacttcac	8	4	1	4	rs34130136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:27765155T>C	ENST00000333743.6	+	7	1004	c.750T>C	c.(748-750)agT>agC	p.S250S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	250					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGAATTGAGTAGAAGAATGG	0.328													T|||	50	0.00998403	0.0371	0.0014	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.0				p.S250S	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.T750C						PASS	.	T		103,3561		0,103,1729	66	60	62		750	-0.9	1	15	dbSNP_126	62	1,8171		0,1,4085	no	coding-synonymous	GABRG3	NM_033223.4		0,104,5814	CC,CT,TT		0.0122,2.8111,0.8787		250/468	27765155	104,11732	1832	4086	5918	SO:0001819	synonymous_variant	2567	exon7			ATTGAGTAGAAGA		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.750T>C	15.37:g.27765155T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	84	36	0.428571	NM_033223	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	T	9.515	1.106645	0.20714	0.028111	1.22E-4	ENSG00000182256	ENST00000451330	.	.	.	5.35	-0.876	0.10624	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	.	10.5939	0.45325	0.0:0.4796:0.0:0.5204	rs34130136	.	.	.	A	13	.	.	V	+	2	0	GABRG3	25438750	0.958000	0.32768	0.995000	0.50966	0.985000	0.73830	0.034000	0.13776	-0.058000	0.13177	-0.334000	0.08254	GTA	T|0.993;C|0.007	0.007	strong		0.328	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			C	27765155	T	C	27765155	2	2	22	1	0	0	0	0	0	0	0	1	6173	1635	57	2		2	GABRG3	15	27765155	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	191187	27765155	74766237	7616	12724										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27777751	27777751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgttgcttgcagaactaTtccctcctggacatgaggcc	9	11	0	2	rs16950126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:27777751T>C	ENST00000333743.6	+	10	1382	c.1128T>C	c.(1126-1128)taT>taC	p.Y376Y	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	376					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCAGAACTATTCCCTCCTGG	0.423													T|||	316	0.063099	0.2216	0.0274	5008	,	,		19532	0.0		0.004	False		,,,				2504	0.0				p.Y376Y	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.T1128C						PASS	.	T		648,3304		48,552,1376	91	88	89		1128	-7.8	0.7	15	dbSNP_123	89	8,8332		0,8,4162	no	coding-synonymous	GABRG3	NM_033223.4		48,560,5538	CC,CT,TT		0.0959,16.3968,5.3368		376/468	27777751	656,11636	1976	4170	6146	SO:0001819	synonymous_variant	2567	exon10			GAACTATTCCCTC		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1128T>C	15.37:g.27777751T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	147	75	0.510204	NM_033223	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1																																																																																			T|0.932;C|0.068	0.068	strong		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			C	27777751	T	C	27777751	2	2	22	1	0	0	0	0	0	0	0	1	6173	1500	52	2		2	GABRG3	15	27777751	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12596	27777751	74753641	7617	12725										
OCA2	4948	hgsc.bcm.edu	37	chr15	28211921	28211921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcagaccaggagaacaagGcaaatcccaatgaacatgtg	10	9	0	3	rs1800411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:28211921G>A	ENST00000354638.3	-	15	1706	c.1551C>T	c.(1549-1551)tgC>tgT	p.C517C	OCA2_ENST00000353809.5_Silent_p.C493C|OCA2_ENST00000382996.2_Silent_p.C517C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	517					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGAACAAGGCAAATCCCAA	0.493									Oculocutaneous Albinism				G|||	1823	0.364018	0.2383	0.4712	5008	,	,		20394	0.1558		0.6779	False		,,,				2504	0.3497				p.C517C		Atlas-SNP	.											OCA2,NS,carcinoma,-2,1	OCA2	173	1	0			c.C1551T						scavenged	.	G		1302,3104	439.8+/-345.8	203,896,1104	111	90	97		1551	4.2	0.9	15	dbSNP_89	97	6073,2527	692.7+/-404.6	2144,1785,371	no	coding-synonymous	OCA2	NM_000275.2		2347,2681,1475	AA,AG,GG		29.3837,29.5506,43.2954		517/839	28211921	7375,5631	2203	4300	6503	SO:0001819	synonymous_variant	4948	exon15	Familial Cancer Database		AACAAGGCAAATC		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1551C>T	15.37:g.28211921G>A		Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	151	61	0.403974	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	CCDS10020.1																																																																																			G|0.543;A|0.457	0.457	strong		0.493	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		A	28211921	G	A	28211921	2	1	22	1	0	0	0	0	0	0	0	1	10815	1195	42	2		2	OCA2	15	28211921	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	434170	28211921	74319471	7618	12726										
HERC2	8924	hgsc.bcm.edu	37	chr15	28389880	28389880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccattcacagacccatcGctgatgaacttccactttaa	5	14	1	3	rs1133496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:28389880G>A	ENST00000261609.7	-	72	11187	c.11079C>T	c.(11077-11079)agC>agT	p.S3693S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGACCCATCGCTGATGAACT	0.592													G|||	434	0.0866613	0.3132	0.0274	5008	,	,		20257	0.0		0.001	False		,,,				2504	0.0				p.S3693S		Atlas-SNP	.											.	HERC2	501	.	0			c.C11079T						PASS	.	G		1171,3235	414.6+/-336.9	156,859,1188	106	86	93		11079	-2.7	1	15	dbSNP_86	93	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	HERC2	NM_004667.4		156,863,5484	AA,AG,GG		0.0465,26.5774,9.0343		3693/4835	28389880	1175,11831	2203	4300	6503	SO:0001819	synonymous_variant	8924	exon72			CCCATCGCTGATG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11079C>T	15.37:g.28389880G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	145	73	0.503448	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.916;A|0.084	0.084	strong		0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28389880	G	A	28389880	2	1	22	1	0	0	0	0	0	0	0	1	7058	1078	38	1		1	HERC2	15	28389880	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	177959	28389880	74141512	7619	12727										
HERC2	8924	hgsc.bcm.edu	37	chr15	28424100	28424100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgccgtgggatgggcacCgtcccgctggaaatgcccag	14	13	1	0	rs9806328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:28424100C>T	ENST00000261609.7	-	59	9204	c.9096G>A	c.(9094-9096)acG>acA	p.T3032T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGATGGGCACCGTCCCGCTGG	0.612													C|||	716	0.142971	0.5166	0.0375	5008	,	,		11324	0.004		0.001	False		,,,				2504	0.002				p.T3032T		Atlas-SNP	.											.	HERC2	501	.	0			c.G9096A						PASS	.	C		1921,2485	549.9+/-377.9	410,1101,692	82	84	83		9096	-11.2	0.1	15	dbSNP_119	83	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	HERC2	NM_004667.4		410,1108,4985	TT,TC,CC		0.0814,43.5996,14.8239		3032/4835	28424100	1928,11078	2203	4300	6503	SO:0001819	synonymous_variant	8924	exon59			GGGCACCGTCCCG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9096G>A	15.37:g.28424100C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	92	37	0.402174	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			C|0.864;T|0.136	0.136	strong		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28424100	C	T	28424100	2	4	22	1	0	0	0	0	0	0	0	1	7058	639	23	1		1	HERC2	15	28424100	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34220	28424100	74107292	7620	12728										
HERC2	8924	hgsc.bcm.edu	37	chr15	28456220	28456220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttatcctggtgggagaGcagcgcccgacctgctttca	12	12	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:28456220G>A	ENST00000261609.7	-	44	7105	c.6997C>T	c.(6997-6999)Ctc>Ttc	p.L2333F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGTGGGAGAGCAGCGCCCGA	0.517																																					p.L2333F		Atlas-SNP	.											HERC2,NS,carcinoma,0,1	HERC2	501	1	0			c.C6997T						scavenged	.						78	74	75					15																	28456220		2202	4298	6500	SO:0001583	missense	8924	exon44			GGGAGAGCAGCGC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6997C>T	15.37:g.28456220G>A	ENSP00000261609:p.Leu2333Phe	Somatic	644	1	0.0015528		WXS	Illumina HiSeq	Phase_I	738	15	0.0203252	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406637	0.62399	.	.	ENSG00000128731	ENST00000261609	T	0.38722	1.12	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.36720	-0.9736	10	0.13108	T	0.6	.	18.1363	0.89620	0.0:0.0:1.0:0.0	.	2333	O95714	HERC2_HUMAN	F	2333	ENSP00000261609:L2333F	ENSP00000261609:L2333F	L	-	1	0	HERC2	26129815	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.652000	0.98499	2.497000	0.84241	0.561000	0.74099	CTC	.	.	weak		0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28456220	G	A	28456220	3	1	22	1	0	0	0	0	1	0	0	0	7058	971	34	2	7707	2	HERC2	15	28456220	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32120	28456220	74075172	7621	12729										
APBA2	321	hgsc.bcm.edu	37	chr15	29347019	29347019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaccccagaagagaggcTgaagtggccccacgagcagg	15	12	0	3	rs8040932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:29347019T>C	ENST00000558402.1	+	5	1531	c.932T>C	c.(931-933)cTg>cCg	p.L311P	APBA2_ENST00000558259.1_Missense_Mutation_p.L311P|APBA2_ENST00000411764.1_Missense_Mutation_p.L311P|APBA2_ENST00000558330.1_Missense_Mutation_p.L311P|APBA2_ENST00000561069.1_Missense_Mutation_p.L311P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	311			L -> P (in dbSNP:rs8040932). {ECO:0000269|PubMed:15489334}.		in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAGAGAGGCTGAAGTGGCCC	0.657													C|||	1559	0.311302	0.7526	0.2161	5008	,	,		15988	0.1319		0.1889	False		,,,				2504	0.093				p.L311P		Atlas-SNP	.											.	APBA2	132	.	0			c.T932C						PASS	.	C	PRO/LEU,PRO/LEU	2931,1443		1016,899,272	15	18	17		932,932	4.2	1	15	dbSNP_116	17	1542,6980		153,1236,2872	yes	missense,missense	APBA2	NM_001130414.1,NM_005503.3	98,98	1169,2135,3144	CC,CT,TT		18.0943,32.9904,34.6852	benign,benign	311/738,311/750	29347019	4473,8423	2187	4261	6448	SO:0001583	missense	321	exon3			AGAGGCTGAAGTG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.932T>C	15.37:g.29347019T>C	ENSP00000453293:p.Leu311Pro	Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_005503	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	660	0.3021978021978022	355	0.7215447154471545	84	0.23204419889502761	75	0.13111888111888112	146	0.19261213720316622	C	0.015	-1.548992	0.00926	0.670096	0.180943	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.20069	2.1	5.24	4.25	0.50352	.	0.127759	0.52532	N	0.000075	T	0.00012	0.0000	N	0.00230	-1.795	0.33447	P	0.41681199999999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37291	-0.9712	9	0.05833	T	0.94	.	6.1462	0.20287	0.3547:0.5468:0.0:0.0986	rs8040932;rs8040932	311;311	E9PGI4;Q99767	.;APBA2_HUMAN	P	311	ENSP00000409312:L311P	ENSP00000219865:L311P	L	+	2	0	APBA2	27134311	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	2.721000	0.47260	1.201000	0.43203	-0.128000	0.14901	CTG	T|0.681;C|0.319	0.319	strong		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		C	29347019	T	C	29347019	3	2	22	1	0	0	0	0	1	0	0	0	757	1580	55	3	934	3	APBA2	15	29347019	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	890799	29347019	73184373	7622	12730										
APBA2	321	hgsc.bcm.edu	37	chr15	29397593	29397593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcacaggcccagctcatCgcccagtctatcggccaggc	10	17	3	0	rs35322773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:29397593C>T	ENST00000558402.1	+	12	2135	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	APBA2_ENST00000558259.1_Silent_p.I512I|APBA2_ENST00000411764.1_Silent_p.I500I|APBA2_ENST00000558330.1_Silent_p.I500I|APBA2_ENST00000561069.1_Silent_p.I512I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	512	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCAGCTCATCGCCCAGTCTA	0.657													C|||	74	0.0147764	0.0499	0.0058	5008	,	,		17739	0.001		0.003	False		,,,				2504	0.0				p.I512I		Atlas-SNP	.											.	APBA2	132	.	0			c.C1536T						PASS	.	C	,	200,4202	122.1+/-159.5	4,192,2005	57	44	49		1500,1536	-6.9	0.9	15	dbSNP_126	49	58,8542	36.9+/-92.0	0,58,4242	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	4,250,6247	TT,TC,CC		0.6744,4.5434,1.9843	,	500/738,512/750	29397593	258,12744	2201	4300	6501	SO:0001819	synonymous_variant	321	exon10			GCTCATCGCCCAG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1536C>T	15.37:g.29397593C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_005503	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			C|0.980;T|0.020	0.020	strong		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29397593	C	T	29397593	2	4	22	1	0	0	0	0	0	0	0	1	757	874	31	1		1	APBA2	15	29397593	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50574	29397593	73133799	7623	12731										
APBA2	321	hgsc.bcm.edu	37	chr15	29398914	29398914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccaacatgatgaatggCggcccggctgcccgctcggg	15	14	0	2	rs8032178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:29398914C>T	ENST00000558402.1	+	13	2408	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	APBA2_ENST00000558259.1_Silent_p.G603G|APBA2_ENST00000411764.1_Silent_p.G591G|APBA2_ENST00000558330.1_Silent_p.G591G|APBA2_ENST00000561069.1_Silent_p.G603G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	603	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGATGAATGGCGGCCCGGCTG	0.662													C|||	295	0.0589058	0.2118	0.0202	5008	,	,		13171	0.001		0.0	False		,,,				2504	0.0				p.G603G		Atlas-SNP	.											.	APBA2	132	.	0			c.C1809T						PASS	.	C	,	801,3605	312.2+/-292.5	71,659,1473	48	49	49		1773,1809	-8.4	0.4	15	dbSNP_116	49	3,8593	3.0+/-9.4	0,3,4295	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	71,662,5768	TT,TC,CC		0.0349,18.1798,6.1837	,	591/738,603/750	29398914	804,12198	2203	4298	6501	SO:0001819	synonymous_variant	321	exon11			GAATGGCGGCCCG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1809C>T	15.37:g.29398914C>T		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	222	107	0.481982	NM_005503	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			C|0.932;T|0.068	0.068	strong		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29398914	C	T	29398914	2	4	22	1	0	0	0	0	0	0	0	1	757	755	27	1		1	APBA2	15	29398914	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1321	29398914	73132478	7624	12732										
NDNL2	56160	hgsc.bcm.edu	37	chr15	29561467	29561467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggatgtaagtgttgctcTtgggttcaagttccaccagc	12	8	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:29561467T>G	ENST00000332303.4	-	1	566	c.443A>C	c.(442-444)aAg>aCg	p.K148T	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	148	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGTTGCTCTTGGGTTCAAG	0.582																																					p.K148T		Atlas-SNP	.											.	NDNL2	19	.	0			c.A443C						PASS	.						81	74	76					15																	29561467		2203	4300	6503	SO:0001583	missense	56160	exon1			TTGCTCTTGGGTT	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.443A>C	15.37:g.29561467T>G	ENSP00000330694:p.Lys148Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	116	58	0.5	NM_138704	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238898	0.58995	.	.	ENSG00000185115	ENST00000332303	T	0.05717	3.4	3.91	-1.44	0.08856	.	0.124104	0.52532	U	0.000070	T	0.03305	0.0096	N	0.20807	0.61	0.09310	N	0.999997	P	0.36712	0.566	B	0.42959	0.403	T	0.35051	-0.9804	10	0.02654	T	1	.	4.0573	0.09823	0.0:0.3563:0.1937:0.45	.	148	Q96MG7	MAGG1_HUMAN	T	148	ENSP00000330694:K148T	ENSP00000330694:K148T	K	-	2	0	NDNL2	27348759	1.000000	0.71417	0.007000	0.13788	0.969000	0.65631	0.975000	0.29449	-0.271000	0.09272	0.460000	0.39030	AAG	.	.	none		0.582	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		G	29561467	T	G	29561467	3	3	22	1	0	0	0	0	1	0	0	0	10248	1609	56	5	475	5	NDNL2	15	29561467	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	162553	29561467	72969925	7625	12733										
TJP1	7082	hgsc.bcm.edu	37	chr15	30012209	30012209	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtaagggactggagatgaAgcttctgctttctgtgaagt	14	5	2	3	rs376115263		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:30012209A>C	ENST00000346128.6	-	20	3249	c.2775T>G	c.(2773-2775)gcT>gcG	p.A925A	TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Silent_p.A925A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	925					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGGAGATGAAGCTTCTGCTT	0.353																																					p.A925A	Melanoma(77;681 1843 6309 6570)	Atlas-SNP	.											.	TJP1	140	.	0			c.T2775G						PASS	.	A	,	3,3687		0,3,1842	125	115	118		2775,	4.2	1	15		118	0,8186		0,0,4093	no	coding-synonymous,intron	TJP1	NM_003257.3,NM_175610.2	,	0,3,5935	CC,CA,AA		0.0,0.0813,0.0253	,	925/1749,	30012209	3,11873	1845	4093	5938	SO:0001819	synonymous_variant	7082	exon20			AGATGAAGCTTCT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2775T>G	15.37:g.30012209A>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_003257	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																			.	.	weak		0.353	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	30012209	A	C	30012209	2	2	22	1	0	0	0	0	0	0	0	1	15926	59	3	5		5	TJP1	15	30012209	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	450742	30012209	72519183	7626	12734										
MTMR15	22909	hgsc.bcm.edu	37	chr15	31196984	31196984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttaacaatgcaccacctGctaaacttgcctgccccgtt	6	14	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31196984G>A	ENST00000362065.4	+	2	409	c.118G>A	c.(118-120)Gct>Act	p.A40T	FAN1_ENST00000565466.1_Missense_Mutation_p.A40T|FAN1_ENST00000561594.1_Missense_Mutation_p.A40T|FAN1_ENST00000561607.1_Missense_Mutation_p.A40T	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	40					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGCACCACCTGCTAAACTTGC	0.398								Direct reversal of damage																													p.A40T		Atlas-SNP	.											.	FAN1	77	.	0			c.G118A						PASS	.						74	76	75					15																	31196984		2202	4300	6502	SO:0001583	missense	22909	exon2			CCACCTGCTAAAC		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.118G>A	15.37:g.31196984G>A	ENSP00000354497:p.Ala40Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	135	67	0.496296	NM_001146095	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.222546	0.79464	.	.	ENSG00000198690	ENST00000362065	D	0.82711	-1.64	5.28	3.31	0.37934	.	0.247400	0.41097	D	0.000947	D	0.88749	0.6521	M	0.66939	2.045	0.39089	D	0.961052	D;D	0.89917	0.986;1.0	P;D	0.72982	0.738;0.979	D	0.89320	0.3639	10	0.72032	D	0.01	-9.7976	12.0726	0.53626	0.0:0.1314:0.7318:0.1368	.	40;40	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	T	40	ENSP00000354497:A40T	ENSP00000354497:A40T	A	+	1	0	FAN1	28984276	0.538000	0.26394	0.288000	0.24862	0.886000	0.51366	2.025000	0.41059	0.662000	0.31006	0.555000	0.69702	GCT	.	.	none		0.398	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		A	31196984	G	A	31196984	3	1	22	1	0	0	0	0	1	0	0	0	9943	1319	46	2	120	2	MTMR15	15	31196984	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1184775	31196984	71334408	7627	12735										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31294343	31294343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatctgcaaactgctctttAtgctcagcttgcactgcagc	7	12	3	0	rs12898290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31294343A>T	ENST00000256552.6	-	28	4707	c.4560T>A	c.(4558-4560)caT>caA	p.H1520Q	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.H1537Q|TRPM1_ENST00000397795.2_Missense_Mutation_p.H1498Q	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCTTTATGCTCAGCTT	0.463													A|||	342	0.0682907	0.0772	0.049	5008	,	,		24142	0.0169		0.0616	False		,,,				2504	0.1299				p.H1537Q		Atlas-SNP	.											.	TRPM1	183	.	0			c.T4611A						PASS	.	A	GLN/HIS	309,3785		15,279,1753	237	222	227		4494	-10.3	0	15	dbSNP_121	227	469,7905		11,447,3729	yes	missense	TRPM1	NM_002420.4	24	26,726,5482	TT,TA,AA		5.6007,7.5476,6.24	benign	1498/1604	31294343	778,11690	2047	4187	6234	SO:0001583	missense	4308	exon27			CTCTTTATGCTCA	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4560T>A	15.37:g.31294343A>T	ENSP00000256552:p.His1520Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_001252020		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	110	0.05036630036630037	35	0.07113821138211382	25	0.06906077348066299	13	0.022727272727272728	37	0.048812664907651716	A	0.008	-1.862085	0.00552	0.075476	0.056007	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.44083	0.95;0.93;0.95	5.17	-10.3	0.00346	.	1.203080	0.06074	N	0.660635	T	0.00724	0.0024	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.16808	-1.0390	10	0.39692	T	0.17	0.2066	1.8655	0.03198	0.328:0.1892:0.3265:0.1564	rs12898290;rs52826303;rs12898290	1492;1498	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	Q	1498;1537;1520;1498	ENSP00000380897:H1498Q;ENSP00000437849:H1537Q;ENSP00000256552:H1520Q	ENSP00000256552:H1520Q	H	-	3	2	TRPM1	29081635	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.635000	0.00205	-4.828000	0.00030	-1.789000	0.00628	CAT	A|0.933;T|0.067	0.067	strong		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31294343	A	T	31294343	3	4	22	1	0	0	0	0	1	0	0	0	16582	446	16	5	321	5	TRPM1	15	31294343	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	97359	31294343	71237049	7628	12736										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31294714	31294714	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaacttggggaaatagtttCttcttttttagagtctgtct	8	5	4	1	rs3784589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31294714C>A	ENST00000256552.6	-	28	4336	c.4189G>T	c.(4189-4191)Gaa>Taa	p.E1397*	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E1414*|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E1375*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAATAGTTTCTTCTTTTTTA	0.353													C|||	342	0.0682907	0.0772	0.049	5008	,	,		22224	0.0169		0.0616	False		,,,				2504	0.1299				p.E1414X		Atlas-SNP	.											.	TRPM1	183	.	0			c.G4240T	GRCh37	CM068094	TRPM1	M	rs3784589	PASS	.	C	stop/GLU	293,3403		15,263,1570	167	155	159		4123	5.1	0	15	dbSNP_107	159	463,7729		11,441,3644	yes	stop-gained	TRPM1	NM_002420.4		26,704,5214	AA,AC,CC		5.6519,7.9275,6.3594		1375/1604	31294714	756,11132	1848	4096	5944	SO:0001587	stop_gained	4308	exon27			TAGTTTCTTCTTT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4189G>T	15.37:g.31294714C>A	ENSP00000256552:p.Glu1397*	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	128	70	0.546875	NM_001252020		Nonsense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	110	0.05036630036630037	35	0.07113821138211382	25	0.06906077348066299	13	0.022727272727272728	37	0.048812664907651716	C	39	7.318356	0.98207	0.079275	0.056519	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.05	5.05	0.67936	.	1.964930	0.02312	N	0.072176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-16.3817	11.8701	0.52515	0.0:0.9205:0.0:0.0795	rs3784589;rs52813512;rs59580223;rs3784589	.	.	.	X	1375;1414;1397;1375	.	ENSP00000256552:E1397X	E	-	1	0	TRPM1	29082006	0.979000	0.34478	0.005000	0.12908	0.223000	0.24884	2.601000	0.46249	2.341000	0.79615	0.650000	0.86243	GAA	C|0.940;A|0.060	0.060	strong		0.353	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31294714	C	A	31294714	4	1	22	1	0	0	0	0	0	1	0	0	16582	922	32	4	692	4	TRPM1	15	31294714	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	371	31294714	71236678	7629	12737										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31294773	31294773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaaatcccaatatctggaCctaattttgactcttcagcg	6	10	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31294773C>T	ENST00000256552.6	-	28	4277	c.4130G>A	c.(4129-4131)gGt>gAt	p.G1377D	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.G1355D|TRPM1_ENST00000542188.1_Missense_Mutation_p.G1394D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AATATCTGGACCTAATTTTGA	0.393																																					p.G1394D		Atlas-SNP	.											.	TRPM1	183	.	0			c.G4181A						PASS	.						160	153	155					15																	31294773		1917	4138	6055	SO:0001583	missense	4308	exon27			TCTGGACCTAATT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4130G>A	15.37:g.31294773C>T	ENSP00000256552:p.Gly1377Asp	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	88	38	0.431818	NM_001252020		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	4.656	0.121910	0.08931	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52526	0.67;0.66;0.68	4.81	2.63	0.31362	.	0.300372	0.27851	N	0.017600	T	0.26919	0.0659	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.10132	-1.0643	10	0.52906	T	0.07	-6.7074	5.797	0.18392	0.1392:0.6449:0.1355:0.0804	.	1349;1355	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	1355;1394;1377;1355	ENSP00000380897:G1355D;ENSP00000437849:G1394D;ENSP00000256552:G1377D	ENSP00000256552:G1377D	G	-	2	0	TRPM1	29082065	0.035000	0.19736	0.093000	0.20910	0.043000	0.13939	0.395000	0.20850	2.201000	0.70794	0.650000	0.86243	GGT	.	.	none		0.393	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31294773	C	T	31294773	3	4	22	1	0	0	0	0	1	0	0	0	16582	507	18	2	751	2	TRPM1	15	31294773	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59	31294773	71236619	7630	12738										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31323360	31323360	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtacagcatgtcgatcaTctgagtaaggagaacatttg	10	6	2	2	rs181499296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31323360T>G	ENST00000256552.6	-	23	3100	c.2953A>C	c.(2953-2955)Atg>Ctg	p.M985L	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Splice_Site_p.M1002L|TRPM1_ENST00000397795.2_Splice_Site_p.M963L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGTCGATCATCTGAGTAAGG	0.493													T|||	4	0.000798722	0.0023	0.0014	5008	,	,		22528	0.0		0.0	False		,,,				2504	0.0				p.M1002L		Atlas-SNP	.											.	TRPM1	183	.	0			c.A3004C						PASS	.	T	LEU/MET	8,4150		0,8,2071	68	66	66		2887	5.9	1	15		66	0,8476		0,0,4238	yes	missense-near-splice	TRPM1	NM_002420.4	15	0,8,6309	GG,GT,TT		0.0,0.1924,0.0633	possibly-damaging	963/1604	31323360	8,12626	2079	4238	6317	SO:0001630	splice_region_variant	4308	exon22			CGATCATCTGAGT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2953-1A>C	15.37:g.31323360T>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	126	46	0.365079	NM_001252020		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	T	21.6	4.177858	0.78564	0.001924	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.73363	-0.74;-0.74;-0.74	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.33485	1.01	0.58432	D	0.999997	D;D	0.59767	0.986;0.983	P;D	0.64687	0.8;0.928	T	0.81803	-0.0765	10	0.72032	D	0.01	-46.9433	16.371	0.83361	0.0:0.0:0.0:1.0	.	957;963	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	963;1002;985;963	ENSP00000380897:M963L;ENSP00000437849:M1002L;ENSP00000256552:M985L	ENSP00000256552:M985L	M	-	1	0	TRPM1	29110652	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.296000	0.72751	2.267000	0.75376	0.477000	0.44152	ATG	T|0.999;G|0.001	0.001	strong		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Missense_Mutation	G	31323360	T	G	31323360	5	3	22	1	0	0	0	0	0	0	1	0	16582	1449	50	5	1948	5	TRPM1	15	31323360	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28587	31323360	71208032	7631	12739										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31330280	31330280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttttctttgccatcctcAttttccttggatgtttgata	5	9	3	1	rs2288242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31330280A>G	ENST00000256552.6	-	19	2553	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.N819N|TRPM1_ENST00000397795.2_Silent_p.N780N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGCCATCCTCATTTTCCTTGG	0.383													G|||	3803	0.759385	0.5749	0.8689	5008	,	,		19421	0.9524		0.8469	False		,,,				2504	0.6421				p.N819N		Atlas-SNP	.											.	TRPM1	183	.	0			c.T2457C						PASS	.	G		2395,1335		772,851,242	120	108	112		2340	-10.7	0.2	15	dbSNP_100	112	6825,1363		2847,1131,116	no	coding-synonymous	TRPM1	NM_002420.4		3619,1982,358	GG,GA,AA		16.6463,35.7909,22.638		780/1604	31330280	9220,2698	1865	4094	5959	SO:0001819	synonymous_variant	4308	exon18			ATCCTCATTTTCC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2406T>C	15.37:g.31330280A>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_001252020		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																			A|0.207;G|0.793	0.793	strong		0.383	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		G	31330280	A	G	31330280	2	3	22	1	0	0	0	0	0	0	0	1	16582	214	8	2		2	TRPM1	15	31330280	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6920	31330280	71201112	7632	12740										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31342744	31342744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggcttcttctccttctcCgtggctttgctgtccgtcgg	12	13	3	0	rs1035705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31342744C>T	ENST00000256552.6	-	12	1452	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	TRPM1_ENST00000542188.1_Silent_p.T452T|TRPM1_ENST00000397795.2_Silent_p.T413T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTCCTTCTCCGTGGCTTTGC	0.542													C|||	2600	0.519169	0.1566	0.621	5008	,	,		22786	0.9435		0.5179	False		,,,				2504	0.501				p.T452T		Atlas-SNP	.											.	TRPM1	183	.	0			c.G1356A						PASS	.	C		894,2992		113,668,1162	97	95	95		1239	-8.4	0.1	15	dbSNP_86	95	4445,3831		1184,2077,877	no	coding-synonymous	TRPM1	NM_002420.4		1297,2745,2039	TT,TC,CC		46.2905,23.0057,43.899		413/1604	31342744	5339,6823	1943	4138	6081	SO:0001819	synonymous_variant	4308	exon11			CTTCTCCGTGGCT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1305G>A	15.37:g.31342744C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	253	133	0.525692	NM_001252020		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																			C|0.456;T|0.544	0.544	strong		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31342744	C	T	31342744	2	4	22	1	0	0	0	0	0	0	0	1	16582	639	23	1		1	TRPM1	15	31342744	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12464	31342744	71188648	7633	12741										
TRPM1	4308	hgsc.bcm.edu	37	chr15	31362352	31362352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagtctccacctgtttgCtttcctcttcatttttgctg	7	12	3	1	rs386782635|rs2241493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:31362352C>T	ENST00000256552.6	-	4	308	c.161G>A	c.(160-162)aGc>aAc	p.S54N	TRPM1_ENST00000559179.1_Missense_Mutation_p.S32N|TRPM1_ENST00000542188.1_Missense_Mutation_p.S71N|TRPM1_ENST00000397795.2_Missense_Mutation_p.S32N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACCTGTTTGCTTTCCTCTTC	0.517													T|||	3961	0.790935	0.7405	0.8905	5008	,	,		20185	0.9296		0.8082	False		,,,				2504	0.6278				p.S71N		Atlas-SNP	.											.	TRPM1	183	.	0			c.G212A						PASS	.	T	ASN/SER	2992,974		1139,714,130	320	303	309		95	-1.7	0	15	dbSNP_98	309	6759,1577		2740,1279,149	yes	missense	TRPM1	NM_002420.4	46	3879,1993,279	TT,TC,CC		18.9179,24.5587,20.7365	benign	32/1604	31362352	9751,2551	1983	4168	6151	SO:0001583	missense	4308	exon3			TGTTTGCTTTCCT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.161G>A	15.37:g.31362352C>T	ENSP00000256552:p.Ser54Asn	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	139	60	0.431655	NM_001252020		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	1815	0.8310439560439561	362	0.7357723577235772	312	0.861878453038674	527	0.9213286713286714	614	0.8100263852242744	T	6.876	0.530991	0.13127	0.754413	0.810821	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61274	0.12;0.12;0.12	6.03	-1.73	0.08081	.	1.191320	0.06210	N	0.684789	T	0.00012	0.0000	N	0.00841	-1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.30995	-0.9959	9	0.16896	T	0.51	-10.5549	9.9581	0.41680	0.0:0.4609:0.2676:0.2715	rs2241493;rs52793730;rs57170646;rs2241493	32	Q7Z4N2	TRPM1_HUMAN	N	32;71;54;32	ENSP00000380897:S32N;ENSP00000437849:S71N;ENSP00000256552:S54N	ENSP00000256552:S54N	S	-	2	0	TRPM1	29149644	0.000000	0.05858	0.000000	0.03702	0.743000	0.42351	-0.595000	0.05727	-0.929000	0.03757	-0.982000	0.02568	AGC	C|0.189;T|0.811	0.811	strong		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31362352	C	T	31362352	3	4	22	1	0	0	0	0	1	0	0	0	16582	797	28	2	4816	2	TRPM1	15	31362352	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19608	31362352	71169040	7634	12742										
RYR3	6263	hgsc.bcm.edu	37	chr15	34030767	34030767	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggagaagcttttctggggGatttttgactcgctctccca	11	10	2	2	rs115185294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:34030767G>T	ENST00000389232.4	+	50	7702	c.7632G>T	c.(7630-7632)ggG>ggT	p.G2544G	RYR3_ENST00000415757.3_Silent_p.G2544G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2544	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTTCTGGGGGATTTTTGACT	0.473											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	36	0.0071885	0.025	0.0043	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0				p.G2544G		Atlas-SNP	.											.	RYR3	760	.	0			c.G7632T						PASS	.	G		61,3703		1,59,1822	96	104	102		7632	0.4	1	15	dbSNP_132	102	1,8205		0,1,4102	no	coding-synonymous	RYR3	NM_001036.3		1,60,5924	TT,TG,GG		0.0122,1.6206,0.518		2544/4871	34030767	62,11908	1882	4103	5985	SO:0001819	synonymous_variant	6263	exon50			CTGGGGGATTTTT		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7632G>T	15.37:g.34030767G>T		Somatic	65	0	0	844	WXS	Illumina HiSeq	Phase_I	59	25	0.423729	NM_001243996	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			G|0.994;T|0.006	0.006	strong		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34030767	G	T	34030767	2	4	22	1	0	0	0	0	0	0	0	1	13770	1161	41	4		4	RYR3	15	34030767	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2668415	34030767	68500625	7635	12743										
RYR3	6263	hgsc.bcm.edu	37	chr15	34105084	34105084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgatgacccagctgtaaaAtggcaactgaacctctacaa	7	11	2	3	rs16958093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:34105084A>G	ENST00000389232.4	+	73	10348	c.10278A>G	c.(10276-10278)aaA>aaG	p.K3426K	RYR3_ENST00000415757.3_Silent_p.K3421K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3426					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCTGTAAAATGGCAACTGA	0.428													A|||	198	0.0395367	0.1362	0.0101	5008	,	,		21062	0.006		0.0	False		,,,				2504	0.0051				p.K3426K		Atlas-SNP	.											.	RYR3	760	.	0			c.A10278G						PASS	.	A		360,3396		26,308,1544	88	85	86		10278	0.6	1	15	dbSNP_123	86	4,8238		0,4,4117	no	coding-synonymous	RYR3	NM_001036.3		26,312,5661	GG,GA,AA		0.0485,9.5847,3.0338		3426/4871	34105084	364,11634	1878	4121	5999	SO:0001819	synonymous_variant	6263	exon73			TGTAAAATGGCAA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10278A>G	15.37:g.34105084A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	77	35	0.454545	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			A|0.955;G|0.045	0.045	strong		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			G	34105084	A	G	34105084	2	3	22	1	0	0	0	0	0	0	0	1	13770	98	4	2		2	RYR3	15	34105084	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	74317	34105084	68426308	7636	12744										
RYR3	6263	hgsc.bcm.edu	37	chr15	34111969	34111969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttccagcaaattggaagaCgaccctttgtacacctccta	6	13	0	1	rs58745096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:34111969C>T	ENST00000389232.4	+	77	10789	c.10719C>T	c.(10717-10719)gaC>gaT	p.D3573D	RYR3_ENST00000415757.3_Silent_p.D3568D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3573					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATTGGAAGACGACCCTTTGT	0.338													C|||	91	0.0181709	0.0666	0.0029	5008	,	,		14784	0.0		0.001	False		,,,				2504	0.0				p.D3573D		Atlas-SNP	.											RYR3,NS,carcinoma,0,1	RYR3	760	1	0			c.C10719T						PASS	.	C		163,3477		5,153,1662	318	297	303		10719	-6.1	0.9	15	dbSNP_129	303	2,8170		0,2,4084	no	coding-synonymous	RYR3	NM_001036.3		5,155,5746	TT,TC,CC		0.0245,4.478,1.3969		3573/4871	34111969	165,11647	1820	4086	5906	SO:0001819	synonymous_variant	6263	exon77			GGAAGACGACCCT		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10719C>T	15.37:g.34111969C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	174	87	0.5	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			C|0.984;T|0.016	0.016	strong		0.338	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34111969	C	T	34111969	2	4	22	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	34111969	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6885	34111969	68419423	7637	12745										
SLC12A6	9990	hgsc.bcm.edu	37	chr15	34551082	34551082	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctttgctccttgagtcaGattagtgtaattggccatgc	9	9	1	2	rs7164902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:34551082G>A	ENST00000354181.3	-	5	967	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	SLC12A6_ENST00000451844.2_Silent_p.L20L|SLC12A6_ENST00000558589.1_Silent_p.L150L|SLC12A6_ENST00000397707.2_Silent_p.L144L|SLC12A6_ENST00000558667.1_Silent_p.L159L|SLC12A6_ENST00000560164.1_Silent_p.L20L|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000458406.2_Silent_p.L100L|SLC12A6_ENST00000560611.1_Silent_p.L159L|SLC12A6_ENST00000290209.5_Silent_p.L108L|SLC12A6_ENST00000397702.2_Silent_p.L100L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	159					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTTGAGTCAGATTAGTGTAA	0.448													G|||	1386	0.276757	0.1982	0.2161	5008	,	,		18454	0.3542		0.2406	False		,,,				2504	0.3834				p.L159L		Atlas-SNP	.											.	SLC12A6	205	.	0			c.C475T						PASS	.	G	,,,,,	951,3451	361.4+/-315.7	105,741,1355	231	217	222		298,298,448,430,322,475	2.8	1	15	dbSNP_116	222	2092,6504	361.6+/-332.4	259,1574,2465	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	,,,,,	364,2315,3820	AA,AG,GG		24.3369,21.6038,23.4113	,,,,,	100/1092,100/1092,150/1142,144/1136,108/1100,159/1151	34551082	3043,9955	2201	4298	6499	SO:0001819	synonymous_variant	9990	exon4			GAGTCAGATTAGT	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.475C>T	15.37:g.34551082G>A		Somatic	400	0	0		WXS	Illumina HiSeq	Phase_I	334	333	0.997006	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																			G|0.751;A|0.249	0.249	strong		0.448	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		A	34551082	G	A	34551082	2	1	22	1	0	0	0	0	0	0	0	1	14387	933	33	2		2	SLC12A6	15	34551082	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	439113	34551082	67980310	7638	12746										
GOLGA8B	440270	hgsc.bcm.edu	37	chr15	34825091	34825091	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgactgatttttatggaccTcgagttcaggactgctgctt	10	9	1	1	rs200439797		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:34825091T>A	ENST00000342314.5	-	3	338	c.241A>T	c.(241-243)Agg>Tgg	p.R81W	GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.R81W|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.R111W	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	81						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTTATGGACCTCGAGTTCAGG	0.552																																					p.R81W		Atlas-SNP	.											GOLGA8B_ENST00000267731,right_upper_lobe,carcinoma,+1,2	GOLGA8B	7	2	0			c.A241T						scavenged	.						34	19	24					15																	34825091		686	1359	2045	SO:0001583	missense	440270	exon3			TGGACCTCGAGTT	AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.241A>T	15.37:g.34825091T>A	ENSP00000343064:p.Arg81Trp	Somatic	1385	0	0		WXS	Illumina HiSeq	Phase_I	1873	467	0.249333	NM_001023567	A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	ENST00000342314.5	37	CCDS45211.1	.	.	.	.	.	.	.	.	.	.	t	13.59	2.284070	0.40394	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958	T;T;T	0.22743	1.94;1.94;2.5	1.55	0.322	0.15888	.	.	.	.	.	T	0.34745	0.0908	M	0.66939	2.045	0.21355	N	0.999712	D	0.67145	0.996	D	0.64687	0.928	T	0.13575	-1.0504	9	0.66056	D	0.02	.	3.6826	0.08316	0.3389:0.0:0.0:0.6611	.	81	A8MQT2	GOG8B_HUMAN	W	81;81;111	ENSP00000343064:R81W;ENSP00000267731:R81W;ENSP00000400063:R111W	ENSP00000267731:R81W	R	-	1	2	GOLGA8B	32612383	1.000000	0.71417	0.371000	0.25978	0.004000	0.04260	4.296000	0.59055	0.067000	0.16545	-1.078000	0.02229	AGG	T|0.998;A|0.002	0.002	weak		0.552	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251739.2	NM_001023567		A	34825091	T	A	34825091	3	1	22	1	0	0	0	0	1	0	0	0	6564	1550	54	5	1626	5	GOLGA8B	15	34825091	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	274009	34825091	67706301	7639	12747										
GJD2	57369	hgsc.bcm.edu	37	chr15	35044940	35044940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattccacctccttgatgcaGgggtagcggttacactcata	9	12	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:35044940G>A	ENST00000290374.4	-	2	1181	c.705C>T	c.(703-705)ccC>ccT	p.P235P	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	235					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.P235P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCTTGATGCAGGGGTAGCGGT	0.478																																					p.P235P		Atlas-SNP	.											GJD2,NS,carcinoma,0,1	GJD2	49	1	1	Substitution - coding silent(1)	lung(1)	c.C705T						scavenged	.						113	89	97					15																	35044940		2201	4298	6499	SO:0001819	synonymous_variant	57369	exon2			GATGCAGGGGTAG	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.705C>T	15.37:g.35044940G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_020660	Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	CCDS10040.1																																																																																			.	.	none		0.478	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			A	35044940	G	A	35044940	2	1	22	1	0	0	0	0	0	0	0	1	6417	987	35	2		2	GJD2	15	35044940	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219849	35044940	67486452	7640	12748										
ZNF770	54989	hgsc.bcm.edu	37	chr15	35273867	35273867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagggttgcccggtgctaCcaggaataaaatcctgtgac	12	10	0	1	rs141323293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:35273867C>A	ENST00000356321.4	-	3	2113	c.1769G>T	c.(1768-1770)gGt>gTt	p.G590V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	590					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCCGGTGCTACCAGGAATAAA	0.438													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19415	0.0		0.0	False		,,,				2504	0.0				p.G590V		Atlas-SNP	.											.	ZNF770	64	.	0			c.G1769T						PASS	.	C	VAL/GLY	45,4357	46.7+/-81.2	0,45,2156	117	119	118		1769	-0.4	0	15	dbSNP_134	118	0,8596		0,0,4298	no	missense	ZNF770	NM_014106.3	109	0,45,6454	AA,AC,CC		0.0,1.0223,0.3462	possibly-damaging	590/692	35273867	45,12953	2201	4298	6499	SO:0001583	missense	54989	exon3			GTGCTACCAGGAA	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1769G>T	15.37:g.35273867C>A	ENSP00000348673:p.Gly590Val	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	0.324	-0.960173	0.02267	0.010223	0.0	ENSG00000198146	ENST00000356321	T	0.10288	2.89	5.24	-0.357	0.12579	.	0.716901	0.12735	N	0.443539	T	0.03434	0.0099	N	0.14661	0.345	0.21020	N	0.999802	B	0.16396	0.017	B	0.15052	0.012	T	0.39014	-0.9634	10	0.33141	T	0.24	-0.2229	4.5334	0.12017	0.1656:0.3386:0.0:0.4958	.	590	Q6IQ21	ZN770_HUMAN	V	590	ENSP00000348673:G590V	ENSP00000348673:G590V	G	-	2	0	ZNF770	33061159	0.039000	0.19947	0.021000	0.16686	0.125000	0.20455	0.555000	0.23422	0.090000	0.17273	0.467000	0.42956	GGT	C|0.996;A|0.004	0.004	strong		0.438	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		A	35273867	C	A	35273867	3	1	22	1	0	0	0	0	1	0	0	0	18140	507	18	4	310	4	ZNF770	15	35273867	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	228927	35273867	67257525	7641	12749										
ATPBD4	89978	hgsc.bcm.edu	37	chr15	35830665	35830665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctatccagttcatcagacCccactgcaacaattaaaatg	5	12	2	1	rs34907758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:35830665C>T	ENST00000256538.4	-	3	148	c.122G>A	c.(121-123)gGg>gAg	p.G41E	DPH6_ENST00000440392.2_Missense_Mutation_p.G41E	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	41			G -> E (in dbSNP:rs34907758).		peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TTCATCAGACCCCACTGCAAC	0.433													C|||	152	0.0303514	0.1097	0.0101	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0				p.G41E		Atlas-SNP	.											.	ATPBD4	30	.	0			c.G122A						PASS	.	C	GLU/GLY,GLU/GLY	311,4091	161.4+/-193.6	13,285,1903	73	62	66		122,122	2.9	1	15	dbSNP_126	66	5,8589	3.7+/-12.6	0,5,4292	no	missense,missense	ATPBD4	NM_001141972.1,NM_080650.3	98,98	13,290,6195	TT,TC,CC		0.0582,7.065,2.4315	benign,benign	41/166,41/268	35830665	316,12680	2201	4297	6498	SO:0001583	missense	89978	exon3			TCAGACCCCACTG		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.122G>A	15.37:g.35830665C>T	ENSP00000256538:p.Gly41Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	103	49	0.475728	NM_001141972	B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	CCDS10043.1	50	0.022893772893772892	44	0.08943089430894309	6	0.016574585635359115	0	0.0	0	0.0	C	8.198	0.797575	0.16327	0.07065	5.82E-4	ENSG00000134146	ENST00000256538;ENST00000440392	T;T	0.42900	1.54;0.96	5.8	2.88	0.33553	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.676327	0.14999	N	0.286217	T	0.00524	0.0017	N	0.02708	-0.52	0.22851	N	0.998659	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.20638	-1.0269	10	0.02654	T	1	-0.1968	7.3765	0.26831	0.0:0.5948:0.0:0.4052	rs34907758	41;41	B3KWG1;Q7L8W6	.;ATBD4_HUMAN	E	41	ENSP00000256538:G41E;ENSP00000406976:G41E	ENSP00000256538:G41E	G	-	2	0	ATPBD4	33617957	0.000000	0.05858	0.998000	0.56505	0.692000	0.40212	-0.022000	0.12480	0.362000	0.24319	-0.142000	0.14014	GGG	C|0.972;T|0.028	0.028	strong		0.433	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		T	35830665	C	T	35830665	3	4	22	1	0	0	0	0	1	0	0	0	1202	623	22	2	899	2	ATPBD4	15	35830665	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	556798	35830665	66700727	7642	12750										
C15orf41	84529	hgsc.bcm.edu	37	chr15	36946303	36946303	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgtcttgtctaggtacCtgaatggagtggtgaaaaat	12	5	2	2	rs3784678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:36946303C>G	ENST00000566621.1	+	4	467	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	C15orf41_ENST00000567389.1_5'UTR|RP11-16L14.2_ENST00000565366.1_RNA|C15orf41_ENST00000437989.2_Missense_Mutation_p.L73V|C15orf41_ENST00000562877.1_5'UTR|C15orf41_ENST00000338183.4_5'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.L73V	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	73			L -> V (in dbSNP:rs3784678).							kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTCTAGGTACCTGAATGGAGT	0.448													C|||	2489	0.497005	0.3782	0.3818	5008	,	,		18193	0.6815		0.4423	False		,,,				2504	0.6053				p.L73V		Atlas-SNP	.											.	C15orf41	24	.	0			c.C217G						PASS	.	C	VAL/LEU,	1239,1893		241,757,568	96	85	89		217,	5.5	1	15	dbSNP_107	89	3286,3870		758,1770,1050	yes	missense,utr-5	C15orf41	NM_001130010.1,NM_032499.4	32,	999,2527,1618	GG,GC,CC		45.9195,39.5594,43.9833	possibly-damaging,	73/282,	36946303	4525,5763	1566	3578	5144	SO:0001583	missense	84529	exon4			AGGTACCTGAATG	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.217C>G	15.37:g.36946303C>G	ENSP00000455397:p.Leu73Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	156	63	0.403846	NM_001130010	B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	CCDS45215.1	1078	0.4935897435897436	206	0.4186991869918699	137	0.3784530386740331	380	0.6643356643356644	355	0.4683377308707124	C	15.37	2.813509	0.50527	0.395594	0.459195	ENSG00000186073	ENST00000437989	T	0.47177	0.85	5.5	5.5	0.81552	.	.	.	.	.	T	0.00012	0.0000	L	0.46741	1.465	0.09310	P	1.0	P	0.46512	0.879	P	0.46076	0.503	T	0.47289	-0.9129	8	0.40728	T	0.16	-2.9736	12.8542	0.57876	0.0:0.9263:0.0:0.0737	rs3784678;rs17657081;rs60628223;rs3784678	73	Q9Y2V0	CO041_HUMAN	V	73	ENSP00000401362:L73V	ENSP00000401362:L73V	L	+	1	2	C15orf41	34733595	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.645000	0.54389	2.854000	0.98071	0.655000	0.94253	CTG	C|0.492;G|0.508	0.508	strong		0.448	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		G	36946303	C	G	36946303	3	3	22	1	0	0	0	0	1	0	0	0	1795	680	24	4	231	4	C15orf41	15	36946303	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1115638	36946303	65585089	7643	12751										
C15orf54	400360	hgsc.bcm.edu	37	chr15	39544809	39544809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgctgacaggggagagaGgggacattttggagtccaaa	16	6	0	2	rs115130297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39544809G>C	ENST00000318578.3	+	2	841	c.473G>C	c.(472-474)aGg>aCg	p.R158T	C15orf54_ENST00000561223.1_Missense_Mutation_p.R158T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	158										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AGGGGAGAGAGGGGACATTTT	0.448													G|||	16	0.00319489	0.0121	0.0	5008	,	,		21387	0.0		0.0	False		,,,				2504	0.0				p.R158T		Atlas-SNP	.											.	C15orf54	18	.	0			c.G473C						PASS	.	G	THR/ARG	28,4372	34.3+/-65.2	0,28,2172	98	84	88		473	0.3	0	15	dbSNP_132	88	0,8594		0,0,4297	yes	missense	C15orf54	NM_207445.2	71	0,28,6469	CC,CG,GG		0.0,0.6364,0.2155	benign	158/184	39544809	28,12966	2200	4297	6497	SO:0001583	missense	400360	exon2			GAGAGAGGGGACA		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.473G>C	15.37:g.39544809G>C	ENSP00000323686:p.Arg158Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	165	88	0.533333	NM_207445	B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	CCDS10049.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	4.682	0.126814	0.08931	0.006364	0.0	ENSG00000175746	ENST00000318578	T	0.39406	1.08	3.57	0.297	0.15762	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.25312	0.123	B	0.16289	0.015	T	0.15235	-1.0444	9	0.87932	D	0	.	2.1381	0.03768	0.1165:0.1939:0.4906:0.199	.	158	Q8N8G6	CO054_HUMAN	T	158	ENSP00000323686:R158T	ENSP00000323686:R158T	R	+	2	0	C15orf54	37332101	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.520000	0.06252	-0.036000	0.13669	0.609000	0.83330	AGG	G|0.997;C|0.003	0.003	strong		0.448	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		C	39544809	G	C	39544809	3	2	22	1	0	0	0	0	1	0	0	0	1802	1000	35	4	475	4	C15orf54	15	39544809	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2598506	39544809	62986583	7644	12752										
THBS1	7057	hgsc.bcm.edu	37	chr15	39874092	39874092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggactaggcgtcctgttcCtgatgcatgtgtgtggcacc	15	10	0	1	rs35248254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39874092C>T	ENST00000260356.5	+	2	199	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	12					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGTCCTGTTCCTGATGCATGT	0.592											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	78	0.0155751	0.0552	0.0072	5008	,	,		18818	0.0		0.0	False		,,,				2504	0.0				p.L12L		Atlas-SNP	.											.	THBS1	106	.	0			c.C34T						PASS	.	C		165,4235	110.4+/-148.6	3,159,2038	121	101	108		34	4	1	15	dbSNP_126	108	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	THBS1	NM_003246.2		3,160,6334	TT,TC,CC		0.0116,3.75,1.2775		12/1171	39874092	166,12828	2200	4297	6497	SO:0001819	synonymous_variant	7057	exon2			CTGTTCCTGATGC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.34C>T	15.37:g.39874092C>T		Somatic	128	0	0	889	WXS	Illumina HiSeq	Phase_I	125	57	0.456	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																			C|0.985;T|0.015	0.015	strong		0.592	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39874092	C	T	39874092	2	4	22	1	0	0	0	0	0	0	0	1	15850	680	24	2		2	THBS1	15	39874092	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	329283	39874092	62657300	7645	12753										
THBS1	7057	hgsc.bcm.edu	37	chr15	39874396	39874396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctcctgtctaacagagTctggcggagacaacagcgtg	11	11	3	2	rs41515347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39874396T>G	ENST00000260356.5	+	3	235	c.70T>G	c.(70-72)Tct>Gct	p.S24A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	24			S -> A (in dbSNP:rs41515347).		activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCTAACAGAGTCTGGCGGAGA	0.597													T|||	183	0.0365415	0.1241	0.0101	5008	,	,		18737	0.0099		0.001	False		,,,				2504	0.001				p.S24A		Atlas-SNP	.											.	THBS1	106	.	0			c.T70G						PASS	.	T	ALA/SER	457,3939	207.2+/-228.6	28,401,1769	36	39	38		70	4	1	15	dbSNP_127	38	7,8579	5.7+/-21.5	0,7,4286	yes	missense	THBS1	NM_003246.2	99	28,408,6055	GG,GT,TT		0.0815,10.3958,3.5742	benign	24/1171	39874396	464,12518	2198	4293	6491	SO:0001583	missense	7057	exon3			ACAGAGTCTGGCG		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.70T>G	15.37:g.39874396T>G	ENSP00000260356:p.Ser24Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	73	0.033424908424908424	62	0.12601626016260162	5	0.013812154696132596	5	0.008741258741258742	1	0.0013192612137203166	T	17.25	3.342644	0.61073	0.103958	8.15E-4	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.78003	-1.14;0.73	5.17	4.02	0.46733	Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.35708	N	0.003030	T	0.02727	0.0082	N	0.22421	0.69	0.32910	D	0.514417	D	0.58268	0.982	D	0.67548	0.952	T	0.52586	-0.8556	10	0.34782	T	0.22	-12.2229	11.4375	0.50076	0.0:0.0:0.1511:0.8489	rs41515347;rs61731227	24	P07996	TSP1_HUMAN	A	24	ENSP00000260356:S24A;ENSP00000380720:S24A	ENSP00000260356:S24A	S	+	1	0	THBS1	37661688	1.000000	0.71417	0.993000	0.49108	0.712000	0.41017	5.745000	0.68672	0.947000	0.37659	0.460000	0.39030	TCT	T|0.969;G|0.031	0.031	strong		0.597	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		G	39874396	T	G	39874396	3	3	22	1	0	0	0	0	1	0	0	0	15850	1667	58	5	76	5	THBS1	15	39874396	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	304	39874396	62656996	7646	12754										
THBS1	7057	hgsc.bcm.edu	37	chr15	39880358	39880358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcccagcccccagatgaaCgggaaaccctgtgaaggcga	11	14	1	3	rs2228261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39880358C>T	ENST00000260356.5	+	9	1575	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	470	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.N470N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CCCAGATGAACGGGAAACCCT	0.597													C|||	1336	0.266773	0.4493	0.1383	5008	,	,		20241	0.2897		0.1312	False		,,,				2504	0.227				p.N470N		Atlas-SNP	.											THBS1,NS,carcinoma,0,1	THBS1	106	1	1	Substitution - coding silent(1)	stomach(1)	c.C1410T						PASS	.	C		1702,2698	513.4+/-368.3	331,1040,829	83	78	80		1410	-12	0	15	dbSNP_98	80	1130,7464	232.5+/-266.1	64,1002,3231	no	coding-synonymous	THBS1	NM_003246.2		395,2042,4060	TT,TC,CC		13.1487,38.6818,21.7947		470/1171	39880358	2832,10162	2200	4297	6497	SO:0001819	synonymous_variant	7057	exon9			GATGAACGGGAAA		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1410C>T	15.37:g.39880358C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	128	61	0.476562	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																			C|0.766;T|0.234	0.234	strong		0.597	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39880358	C	T	39880358	2	4	22	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39880358	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5962	39880358	62651034	7647	12755										
THBS1	7057	hgsc.bcm.edu	37	chr15	39880822	39880822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgtctctgcaacaaccccAcaccccagtttggaggcaag	9	15	1	0	rs2292305	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39880822A>G	ENST00000260356.5	+	10	1732	c.1567A>G	c.(1567-1569)Aca>Gca	p.T523A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	523	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.		T -> A (in dbSNP:rs2292305). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:2918029}.		activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.T523A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAACAACCCCACACCCCAGTT	0.542													A|||	1375	0.274561	0.4644	0.1412	5008	,	,		20016	0.3056		0.1312	False		,,,				2504	0.228				p.T523A		Atlas-SNP	.											THBS1,NS,carcinoma,0,1	THBS1	106	1	1	Substitution - Missense(1)	stomach(1)	c.A1567G						scavenged	.	A	ALA/THR	1785,2615	527.1+/-372.1	368,1049,783	91	87	89		1567	-2.5	0.6	15	dbSNP_100	89	1134,7460	232.9+/-266.4	64,1006,3227	yes	missense	THBS1	NM_003246.2	58	432,2055,4010	GG,GA,AA		13.1953,40.5682,22.4642	benign	523/1171	39880822	2919,10075	2200	4297	6497	SO:0001583	missense	7057	exon10			AACCCCACACCCC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1567A>G	15.37:g.39880822A>G	ENSP00000260356:p.Thr523Ala	Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	553	0.2532051282051282	216	0.43902439024390244	54	0.14917127071823205	190	0.3321678321678322	93	0.12269129287598944	A	8.764	0.924339	0.18056	0.405682	0.131953	ENSG00000137801	ENST00000260356	T	0.60040	0.22	5.87	-2.47	0.06442	.	0.716432	0.11505	N	0.557327	T	0.00012	0.0000	N	0.00436	-1.5	0.43953	P	0.0033800000000000496	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	9	0.06365	T	0.9	4.0151	7.117	0.25423	0.3584:0.2348:0.4067:0.0	rs2292305;rs58566849;rs2292305	523	P07996	TSP1_HUMAN	A	523	ENSP00000260356:T523A	ENSP00000260356:T523A	T	+	1	0	THBS1	37668114	0.000000	0.05858	0.617000	0.29091	0.985000	0.73830	0.374000	0.20501	-0.734000	0.04843	-0.993000	0.02533	ACA	A|0.756;G|0.244	0.244	strong		0.542	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		G	39880822	A	G	39880822	3	3	22	1	0	0	0	0	1	0	0	0	15850	159	6	2	1601	2	THBS1	15	39880822	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	464	39880822	62650570	7648	12756										
THBS1	7057	hgsc.bcm.edu	37	chr15	39885301	39885301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgacatcagtgagaccgaTttccgccgattccagatgat	10	10	1	4	rs2228263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39885301T>C	ENST00000260356.5	+	18	3033	c.2868T>C	c.(2866-2868)gaT>gaC	p.D956D	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	956					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GTGAGACCGATTTCCGCCGAT	0.502													T|||	574	0.114617	0.2224	0.1037	5008	,	,		20624	0.002		0.159	False		,,,				2504	0.047				p.D956D		Atlas-SNP	.											.	THBS1	106	.	0			c.T2868C						PASS	.	T		920,3480	351.3+/-311.2	108,704,1388	81	69	73		2868	2.2	1	15	dbSNP_98	73	1461,7133	277.5+/-292.9	110,1241,2946	no	coding-synonymous	THBS1	NM_003246.2		218,1945,4334	CC,CT,TT		17.0002,20.9091,18.3238		956/1171	39885301	2381,10613	2200	4297	6497	SO:0001819	synonymous_variant	7057	exon18			GACCGATTTCCGC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2868T>C	15.37:g.39885301T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																			T|0.841;C|0.159	0.159	strong		0.502	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39885301	T	C	39885301	2	2	22	1	0	0	0	0	0	0	0	1	15850	1490	52	2		2	THBS1	15	39885301	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4479	39885301	62646091	7649	12757										
FSIP1	161835	hgsc.bcm.edu	37	chr15	39910431	39910431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taactgttcttcagagagacAtgatgtggactctaactgat	9	7	3	4	rs10152640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:39910431A>G	ENST00000350221.3	-	11	1413	c.1204T>C	c.(1204-1206)Tgt>Cgt	p.C402R		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	402			C -> R (in dbSNP:rs10152640). {ECO:0000269|Ref.3}.					p.C402R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCAGAGAGACATGATGTGGAC	0.318													G|||	2063	0.411941	0.7458	0.2594	5008	,	,		20215	0.3095		0.3072	False		,,,				2504	0.2822				p.C402R		Atlas-SNP	.											FSIP1,NS,carcinoma,0,2	FSIP1	53	2	1	Substitution - Missense(1)	stomach(1)	c.T1204C						PASS	.	G	ARG/CYS	2789,1577		917,955,311	44	48	47		1204	-0.4	0.1	15	dbSNP_119	47	2544,5964		382,1780,2092	yes	missense	FSIP1	NM_152597.4	180	1299,2735,2403	GG,GA,AA		29.9013,36.12,41.4246	benign	402/582	39910431	5333,7541	2183	4254	6437	SO:0001583	missense	161835	exon11			AGAGACATGATGT	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1204T>C	15.37:g.39910431A>G	ENSP00000280236:p.Cys402Arg	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	872	0.3992673992673993	346	0.7032520325203252	106	0.292817679558011	188	0.32867132867132864	232	0.30606860158311344	G	0.009	-1.857666	0.00558	0.6388	0.299013	ENSG00000150667	ENST00000350221	T	0.10668	2.85	5.06	-0.452	0.12205	.	0.738656	0.11694	N	0.538597	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	8	.	.	.	8.7668	2.7672	0.05323	0.2845:0.4014:0.2062:0.1079	rs10152640;rs52803468;rs57454183;rs10152640	402	Q8NA03	FSIP1_HUMAN	R	402	ENSP00000280236:C402R	.	C	-	1	0	FSIP1	37697723	0.001000	0.12720	0.088000	0.20740	0.012000	0.07955	-0.124000	0.10595	-0.082000	0.12640	-0.726000	0.03593	TGT	A|0.599;G|0.401	0.401	strong		0.318	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		G	39910431	A	G	39910431	3	3	22	1	0	0	0	0	1	0	0	0	6074	217	8	2	549	2	FSIP1	15	39910431	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25130	39910431	62620961	7650	12758										
GPR176	11245	hgsc.bcm.edu	37	chr15	40094431	40094431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatcagatattttcctctcCagtggatagaggactgagta	10	8	2	3	rs76578471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40094431C>T	ENST00000561100.1	-	3	1315	c.450G>A	c.(448-450)ctG>ctA	p.L150L	GPR176_ENST00000543580.1_Silent_p.L105L|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000299092.3_Silent_p.L149L|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	150					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TTTTCCTCTCCAGTGGATAGA	0.438											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	67	0.0133786	0.0477	0.0058	5008	,	,		21801	0.0		0.0	False		,,,				2504	0.0				p.L150L		Atlas-SNP	.											.	GPR176	41	.	0			c.G450A						PASS	.	C		112,4294	86.3+/-125.0	0,112,2091	70	61	64		450	4.8	1	15	dbSNP_132	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR176	NM_007223.1		0,113,6390	TT,TC,CC		0.0116,2.542,0.8688		150/516	40094431	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	11245	exon3			CCTCTCCAGTGGA	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.450G>A	15.37:g.40094431C>T		Somatic	39	0	0	890	WXS	Illumina HiSeq	Phase_I	47	21	0.446809	NM_007223	Q6NXF6	Silent	SNP	ENST00000561100.1	37	CCDS10051.1																																																																																			C|0.989;T|0.011	0.011	strong		0.438	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		T	40094431	C	T	40094431	2	4	22	1	0	0	0	0	0	0	0	1	6673	581	21	2		2	GPR176	15	40094431	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	184000	40094431	62436961	7651	12759										
BUB1B	701	hgsc.bcm.edu	37	chr15	40453430	40453430	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaatgcaggatggcggcGgtgaagaaggaagggggtgc	21	5	0	2	rs7168394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40453430G>T	ENST00000287598.6	+	1	204	c.9G>T	c.(7-9)gcG>gcT	p.A3A	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Silent_p.A3A	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGATGGCGGCGGTGAAGAAGG	0.637			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				G|||	335	0.066893	0.2458	0.0144	5008	,	,		17894	0.0		0.0	False		,,,				2504	0.0				p.A3A		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	BUB1B	71	.	0			c.G9T						PASS	.	G		761,3645	297.3+/-284.7	70,621,1512	66	54	58		9	1.1	0	15	dbSNP_116	58	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous	BUB1B	NM_001211.5		70,639,5794	TT,TG,GG		0.2093,17.2719,5.9895		3/1051	40453430	779,12227	2203	4300	6503	SO:0001819	synonymous_variant	701	exon1	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	GGCGGCGGTGAAG	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.9G>T	15.37:g.40453430G>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	136	74	0.544118	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																			G|0.922;T|0.078	0.078	strong		0.637	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			T	40453430	G	T	40453430	2	4	22	1	0	0	0	0	0	0	0	1	1571	1103	39	4		4	BUB1B	15	40453430	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	358999	40453430	62077962	7652	12760										
BUB1B	701	hgsc.bcm.edu	37	chr15	40462780	40462780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactatcctcaaggtgggaaGgagagtaatatgtcaacgtt	11	6	2	1	rs1801389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40462780G>A	ENST00000287598.6	+	4	477	c.282G>A	c.(280-282)aaG>aaA	p.K94K	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Silent_p.K108K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	94	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAGGTGGGAAGGAGAGTAATA	0.358			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				G|||	438	0.0874601	0.1422	0.0879	5008	,	,		18598	0.003		0.1342	False		,,,				2504	0.0521				p.K94K		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	BUB1B	71	.	0			c.G282A						PASS	.	G		603,3803	265.0+/-266.4	40,523,1640	113	107	109		282	1.3	1	15	dbSNP_89	109	1266,7334	252.2+/-278.4	83,1100,3117	no	coding-synonymous	BUB1B	NM_001211.5		123,1623,4757	AA,AG,GG		14.7209,13.6859,14.3703		94/1051	40462780	1869,11137	2203	4300	6503	SO:0001819	synonymous_variant	701	exon4	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	TGGGAAGGAGAGT	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.282G>A	15.37:g.40462780G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																			G|0.879;A|0.121	0.121	strong		0.358	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			A	40462780	G	A	40462780	2	1	22	1	0	0	0	0	0	0	0	1	1571	991	35	2		2	BUB1B	15	40462780	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9350	40462780	62068612	7653	12761										
BUB1B	701	hgsc.bcm.edu	37	chr15	40498503	40498503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccagagcagctcgttttgTatccactccttttcatgaga	8	11	1	2	rs1801528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40498503T>C	ENST00000287598.6	+	15	2048	c.1853T>C	c.(1852-1854)gTa>gCa	p.V618A	BUB1B_ENST00000412359.3_Missense_Mutation_p.V632A	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	618			V -> A (in colorectal cancer; dbSNP:rs1801528). {ECO:0000269|PubMed:10366450, ECO:0000269|PubMed:17344846}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCTCGTTTTGTATCCACTCCT	0.448			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				T|||	465	0.0928514	0.3389	0.0245	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.0				p.V618A		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	BUB1B,NS,carcinoma,+1,1	BUB1B	71	1	0			c.T1853C						PASS	.	T	ALA/VAL	1117,3289	402.2+/-332.3	135,847,1221	95	96	96		1853	-0.5	1	15	dbSNP_89	96	18,8582	13.3+/-46.6	0,18,4282	yes	missense	BUB1B	NM_001211.5	64	135,865,5503	CC,CT,TT		0.2093,25.3518,8.7267	benign	618/1051	40498503	1135,11871	2203	4300	6503	SO:0001583	missense	701	exon15	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	GTTTTGTATCCAC	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1853T>C	15.37:g.40498503T>C	ENSP00000287598:p.Val618Ala	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	176	86	0.488636	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	179	0.08195970695970696	169	0.3434959349593496	9	0.024861878453038673	0	0.0	1	0.0013192612137203166	T	5.086	0.201529	0.09652	0.253518	0.002093	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.11277	2.79;2.8	5.51	-0.494	0.12034	.	0.391035	0.23252	N	0.050240	T	0.00012	0.0000	N	0.01874	-0.695	0.44409	P	0.0026760000000000117	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48490	-0.9031	9	0.02654	T	1	-0.8963	13.1761	0.59629	0.0:0.7666:0.0:0.2334	rs1801528;rs52836029	632;618	O60566-3;O60566	.;BUB1B_HUMAN	A	618;632	ENSP00000287598:V618A;ENSP00000398470:V632A	ENSP00000287598:V618A	V	+	2	0	BUB1B	38285795	0.999000	0.42202	0.961000	0.40146	0.990000	0.78478	0.726000	0.25984	-0.099000	0.12263	0.482000	0.46254	GTA	T|0.917;C|0.083	0.083	strong		0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			C	40498503	T	C	40498503	3	2	22	1	0	0	0	0	1	0	0	0	1571	1638	57	2	1911	2	BUB1B	15	40498503	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35723	40498503	62032889	7654	12762										
BUB1B	701	hgsc.bcm.edu	37	chr15	40512906	40512906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccaaagtcacctgaacaaAgccttatggaaggtagggaa	10	8	1	1	rs35611758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40512906A>G	ENST00000287598.6	+	23	3294	c.3099A>G	c.(3097-3099)aaA>aaG	p.K1033K	PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Silent_p.K1047K|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1033	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACCTGAACAAAGCCTTATGGA	0.468			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				A|||	480	0.0958466	0.3502	0.0245	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.0				p.K1033K		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	BUB1B	71	.	0			c.A3099G						PASS	.	A	,,	1160,3246	411.9+/-335.9	151,858,1194	139	133	135		,,3099	5.3	1	15	dbSNP_126	135	18,8582	13.3+/-46.6	0,18,4282	no	intron,intron,coding-synonymous	BUB1B,PAK6	NM_001128628.1,NM_001128629.1,NM_001211.5	,,	151,876,5476	GG,GA,AA		0.2093,26.3277,9.0574	,,	,,1033/1051	40512906	1178,11828	2203	4300	6503	SO:0001819	synonymous_variant	701	exon23	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	GAACAAAGCCTTA	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.3099A>G	15.37:g.40512906A>G		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	137	73	0.532847	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																			A|0.915;G|0.085	0.085	strong		0.468	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			G	40512906	A	G	40512906	2	3	22	1	0	0	0	0	0	0	0	1	1571	69	3	3		3	BUB1B	15	40512906	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14403	40512906	62018486	7655	12763										
DISP2	85455	hgsc.bcm.edu	37	chr15	40656141	40656141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccgctgtgcagcaccaTgtggtcagcgtcaggtaagg	13	13	2	0	rs12443160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40656141T>C	ENST00000267889.3	+	2	522	c.435T>C	c.(433-435)caT>caC	p.H145H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	145					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCAGCACCATGTGGTCAGCG	0.657													T|||	1245	0.248602	0.1036	0.3213	5008	,	,		14594	0.5337		0.0895	False		,,,				2504	0.2628				p.H145H		Atlas-SNP	.											.	DISP2	86	.	0			c.T435C						PASS	.	T		468,3938		26,416,1761	31	34	33		435	-7.3	0.7	15	dbSNP_120	33	707,7889		22,663,3613	no	coding-synonymous	DISP2	NM_033510.1		48,1079,5374	CC,CT,TT		8.2248,10.6219,9.0371		145/1402	40656141	1175,11827	2203	4298	6501	SO:0001819	synonymous_variant	85455	exon2			GCACCATGTGGTC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.435T>C	15.37:g.40656141T>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	22	14	0.636364	NM_033510	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			T|0.861;C|0.139	0.139	strong		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		C	40656141	T	C	40656141	2	2	22	1	0	0	0	0	0	0	0	1	4540	1461	51	2		2	DISP2	15	40656141	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	143235	40656141	61875251	7656	12764										
DISP2	85455	hgsc.bcm.edu	37	chr15	40662501	40662501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaggcccagcactcacacGtcaggctatagcagctgagg	12	14	2	1	rs4514650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40662501G>A	ENST00000267889.3	+	8	4275	c.4188G>A	c.(4186-4188)acG>acA	p.T1396T	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1396					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCACTCACACGTCAGGCTATA	0.662													G|||	1260	0.251597	0.1112	0.3242	5008	,	,		19087	0.5327		0.0934	False		,,,				2504	0.2628				p.T1396T		Atlas-SNP	.											.	DISP2	86	.	0			c.G4188A						PASS	.	G		505,3883		27,451,1716	31	36	35		4188	-8.5	0.6	15	dbSNP_111	35	728,7836		26,676,3580	no	coding-synonymous	DISP2	NM_033510.1		53,1127,5296	AA,AG,GG		8.5007,11.5087,9.5198		1396/1402	40662501	1233,11719	2194	4282	6476	SO:0001819	synonymous_variant	85455	exon8			TCACACGTCAGGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.4188G>A	15.37:g.40662501G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	67	31	0.462687	NM_033510	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			G|0.832;A|0.168	0.168	strong		0.662	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		A	40662501	G	A	40662501	2	1	22	1	0	0	0	0	0	0	0	1	4540	1132	40	1		1	DISP2	15	40662501	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6360	40662501	61868891	7657	12765										
CASC5	57082	hgsc.bcm.edu	37	chr15	40916272	40916272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgtacattggaaaaagcGcaagttgaaagctgtcagtt	11	7	1	1	rs34758606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:40916272G>A	ENST00000346991.5	+	11	4278	c.3888G>A	c.(3886-3888)gcG>gcA	p.A1296A	CASC5_ENST00000399668.2_Silent_p.A1270A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1296					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGGAAAAAGCGCAAGTTGAAA	0.363													G|||	68	0.0135783	0.0484	0.0058	5008	,	,		20456	0.0		0.0	False		,,,				2504	0.0				p.A1296A		Atlas-SNP	.											.	CASC5	269	.	0			c.G3888A						PASS	.	G	,	134,3578		6,122,1728	87	81	83		3810,3888	-4.3	0	15	dbSNP_126	83	1,8199		0,1,4099	no	coding-synonymous,coding-synonymous	CASC5	NM_144508.3,NM_170589.3	,	6,123,5827	AA,AG,GG		0.0122,3.6099,1.1333	,	1270/2317,1296/2343	40916272	135,11777	1856	4100	5956	SO:0001819	synonymous_variant	57082	exon11			AAAAGCGCAAGTT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3888G>A	15.37:g.40916272G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	98	55	0.561224	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																			G|0.991;A|0.009	0.009	strong		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		A	40916272	G	A	40916272	2	1	22	1	0	0	0	0	0	0	0	1	2663	1074	38	1		1	CASC5	15	40916272	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	253771	40916272	61615120	7658	12766										
DNAJC17	55192	hgsc.bcm.edu	37	chr15	41068409	41068409	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacctctcaacctctggtCacgctcctggcgtatctgct	8	16	4	0	rs73398528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:41068409C>T	ENST00000220496.4	-	6	493	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	155					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AACCTCTGGTCACGCTCCTGG	0.622													C|||	294	0.0587061	0.2141	0.0144	5008	,	,		16797	0.001		0.0	False		,,,				2504	0.0				p.D155N		Atlas-SNP	.											.	DNAJC17	18	.	0			c.G463A						PASS	.	C	ASN/ASP	781,3625	315.2+/-294.0	55,671,1477	104	84	91		463	4.4	0.3	15	dbSNP_130	91	3,8597	2.2+/-6.3	0,3,4297	yes	missense	DNAJC17	NM_018163.2	23	55,674,5774	TT,TC,CC		0.0349,17.7258,6.028	benign	155/305	41068409	784,12222	2203	4300	6503	SO:0001583	missense	55192	exon6			TCTGGTCACGCTC	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.463G>A	15.37:g.41068409C>T	ENSP00000220496:p.Asp155Asn	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	46	0.446602	NM_018163		Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	103	0.04716117216117216	95	0.19308943089430894	7	0.019337016574585635	1	0.0017482517482517483	0	0.0	C	6.900	0.535565	0.13188	0.177258	3.49E-4	ENSG00000104129	ENST00000220496	T	0.18338	2.22	4.41	4.41	0.53225	.	0.289804	0.36444	N	0.002600	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.38394	-0.9663	9	0.21540	T	0.41	.	13.7416	0.62852	0.0:0.8449:0.1551:0.0	.	155	Q9NVM6	DJC17_HUMAN	N	155	ENSP00000220496:D155N	ENSP00000220496:D155N	D	-	1	0	DNAJC17	38855701	0.959000	0.32827	0.332000	0.25469	0.105000	0.19272	3.571000	0.53841	2.300000	0.77407	0.561000	0.74099	GAC	C|0.947;T|0.053	0.053	strong		0.622	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		T	41068409	C	T	41068409	3	4	22	1	0	0	0	0	1	0	0	0	4636	826	29	2	475	2	DNAJC17	15	41068409	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152137	41068409	61462983	7659	12767										
ZFYVE19	84936	hgsc.bcm.edu	37	chr15	41105979	41105979	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagcaggcttctcgaccCtggacgcaaccccgcggggc	14	16	1	1	rs116749518	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:41105979C>G	ENST00000355341.4	+	9	1680	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	ZFYVE19_ENST00000336455.5_Silent_p.P383P|ZFYVE19_ENST00000564258.1_Silent_p.P218P|ZFYVE19_ENST00000570108.1_Silent_p.P370P|ZFYVE19_ENST00000299173.10_Silent_p.P325P	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	393					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTTCTCGACCCTGGACGCAAC	0.612													C|||	18	0.00359425	0.0136	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0				p.P393P		Atlas-SNP	.											.	ZFYVE19	31	.	0			c.C1179G						PASS	.	C		33,3971		1,31,1970	49	54	52		1179	1.1	0	15	dbSNP_132	52	1,8315		0,1,4157	no	coding-synonymous	ZFYVE19	NM_001077268.1		1,32,6127	GG,GC,CC		0.012,0.8242,0.276		393/472	41105979	34,12286	2002	4158	6160	SO:0001819	synonymous_variant	84936	exon9			TCGACCCTGGACG	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1179C>G	15.37:g.41105979C>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	100	51	0.51	NM_001077268	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																			C|0.997;G|0.003	0.003	strong		0.612	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		G	41105979	C	G	41105979	2	3	22	1	0	0	0	0	0	0	0	1	17662	668	24	4		4	ZFYVE19	15	41105979	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37570	41105979	61425413	7660	12768										
SPINT1	6692	hgsc.bcm.edu	37	chr15	41146880	41146880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgcatccatttccccagTgacaaaggtgagatcctccc	8	15	0	2	rs8028552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:41146880T>C	ENST00000344051.4	+	8	1392	c.1158T>C	c.(1156-1158)agT>agC	p.S386S	SPINT1_ENST00000431806.1_Silent_p.S370S|SPINT1_ENST00000562057.1_Silent_p.S370S			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	386					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATTTCCCCAGTGACAAAGGTG	0.592													T|||	1396	0.278754	0.5787	0.1614	5008	,	,		19474	0.1706		0.1889	False		,,,				2504	0.1605				p.S386S		Atlas-SNP	.											.	SPINT1	28	.	0			c.T1158C						PASS	.	T	,,	2219,2187	590.3+/-387.3	558,1103,542	114	107	109		1110,1110,1158	1.5	1	15	dbSNP_116	109	1728,6872	315.8+/-312.4	175,1378,2747	no	coding-synonymous,coding-synonymous,coding-synonymous	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,	733,2481,3289	CC,CT,TT		20.093,49.6369,30.3475	,,	370/514,370/514,386/530	41146880	3947,9059	2203	4300	6503	SO:0001819	synonymous_variant	6692	exon8			CCCCAGTGACAAA		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1158T>C	15.37:g.41146880T>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	67	29	0.432836	NM_181642	Q7Z7D2	Silent	SNP	ENST00000344051.4	37	CCDS10067.1																																																																																			C|0.286;N|0.000	0.286	strong		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		C	41146880	T	C	41146880	2	2	22	1	0	0	0	0	0	0	0	1	15067	1693	59	2		2	SPINT1	15	41146880	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40901	41146880	61384512	7661	12769										
RPAP1	26015	hgsc.bcm.edu	37	chr15	41815063	41815063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagccagccagactgagaCgggggcagcctcccgagcag	15	14	0	3	rs61748721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:41815063C>T	ENST00000304330.4	-	19	2758	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H	RPAP1_ENST00000561603.1_Missense_Mutation_p.R881H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	881	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGACTGAGACGGGGGCAGCC	0.632													C|||	177	0.0353435	0.1324	0.0029	5008	,	,		16841	0.0		0.0	False		,,,				2504	0.0				p.R881H		Atlas-SNP	.											.	RPAP1	111	.	0			c.G2642A						PASS	.	C	HIS/ARG	531,3875	241.5+/-251.9	29,473,1701	56	50	52		2642	-1.3	0	15	dbSNP_129	52	3,8597	2.2+/-6.3	0,3,4297	yes	missense	RPAP1	NM_015540.2	29	29,476,5998	TT,TC,CC		0.0349,12.0517,4.1058	benign	881/1394	41815063	534,12472	2203	4300	6503	SO:0001583	missense	26015	exon19			CTGAGACGGGGGC	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2642G>A	15.37:g.41815063C>T	ENSP00000306123:p.Arg881His	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	29	0.568627	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	60	0.027472527472527472	59	0.11991869918699187	1	0.0027624309392265192	0	0.0	0	0.0	C	10.52	1.373816	0.24857	0.120517	3.49E-4	ENSG00000103932	ENST00000304330	T	0.11930	2.73	5.27	-1.3	0.09259	.	0.689147	0.15432	N	0.262677	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	10	0.41790	T	0.15	-23.5071	5.7717	0.18257	0.0626:0.3333:0.3812:0.2229	.	881	Q9BWH6	RPAP1_HUMAN	H	881	ENSP00000306123:R881H	ENSP00000306123:R881H	R	-	2	0	RPAP1	39602355	0.005000	0.15991	0.000000	0.03702	0.660000	0.38997	0.344000	0.19962	-0.381000	0.07882	-1.067000	0.02272	CGT	C|0.958;T|0.042	0.042	strong		0.632	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		T	41815063	C	T	41815063	3	4	22	1	0	0	0	0	1	0	0	0	13541	536	19	1	1567	1	RPAP1	15	41815063	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	668183	41815063	60716329	7662	12770										
RPAP1	26015	hgsc.bcm.edu	37	chr15	41827757	41827757	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccccaactgatgggcccTtggcttcagctatcctcctt	7	16	1	1	rs2297382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:41827757T>A	ENST00000304330.4	-	5	610	c.494A>T	c.(493-495)aAg>aTg	p.K165M	RPAP1_ENST00000561603.1_Missense_Mutation_p.K165M|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	165			K -> M (in dbSNP:rs2297382).			nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGATGGGCCCTTGGCTTCAGC	0.522													T|||	712	0.142173	0.4017	0.0922	5008	,	,		19046	0.0149		0.0537	False		,,,				2504	0.0491				p.K165M		Atlas-SNP	.											.	RPAP1	111	.	0			c.A494T						PASS	.	T	MET/LYS	1534,2872	485.8+/-360.4	251,1032,920	88	89	89		494	-2.5	0	15	dbSNP_100	89	517,8083	145.1+/-200.9	12,493,3795	yes	missense	RPAP1	NM_015540.2	95	263,1525,4715	AA,AT,TT		6.0116,34.8162,15.7696	benign	165/1394	41827757	2051,10955	2203	4300	6503	SO:0001583	missense	26015	exon5			GGGCCCTTGGCTT	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.494A>T	15.37:g.41827757T>A	ENSP00000306123:p.Lys165Met	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	108	53	0.490741	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	279	0.12774725274725274	196	0.3983739837398374	34	0.09392265193370165	10	0.017482517482517484	39	0.051451187335092345	T	15.70	2.909962	0.52439	0.348162	0.060116	ENSG00000103932	ENST00000304330	T	0.12672	2.66	5.26	-2.47	0.06442	.	1.431580	0.03677	N	0.244940	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.31040	0.305	B	0.33295	0.161	T	0.46091	-0.9216	9	0.72032	D	0.01	-12.1361	5.4209	0.16400	0.1357:0.3919:0.0:0.4725	rs2297382;rs57017522;rs2297382	165	Q9BWH6	RPAP1_HUMAN	M	165	ENSP00000306123:K165M	ENSP00000306123:K165M	K	-	2	0	RPAP1	39615049	0.003000	0.15002	0.000000	0.03702	0.532000	0.34746	-0.115000	0.10741	-0.316000	0.08690	-0.696000	0.03686	AAG	T|0.855;A|0.145	0.145	strong		0.522	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41827757	T	A	41827757	3	1	22	1	0	0	0	0	1	0	0	0	13541	1609	56	5	3771	5	RPAP1	15	41827757	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12694	41827757	60703635	7663	12771										
MGA	23269	hgsc.bcm.edu	37	chr15	42019421	42019421	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctgttcgacattacccAttatgggtaaaagtagaagg	10	8	0	1	rs61736067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42019421A>G	ENST00000570161.1	+	9	3474	c.3474A>G	c.(3472-3474)ccA>ccG	p.P1158P	MGA_ENST00000389936.4_Silent_p.P1158P|MGA_ENST00000219905.7_Silent_p.P1158P|MGA_ENST00000545763.1_Silent_p.P1158P|MGA_ENST00000566586.1_Silent_p.P1158P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACATTACCCATTATGGGTAA	0.408													A|||	80	0.0159744	0.0582	0.0029	5008	,	,		18915	0.0		0.001	False		,,,				2504	0.0				p.P1158P		Atlas-SNP	.											.	MGA	264	.	0			c.A3474G						PASS	.	A	,	166,3584		7,152,1716	86	79	81		3474,3474	0.6	1	15	dbSNP_129	81	3,8199		0,3,4098	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	7,155,5814	GG,GA,AA		0.0366,4.4267,1.414	,	1158/2857,1158/3066	42019421	169,11783	1875	4101	5976	SO:0001819	synonymous_variant	23269	exon10			TTACCCATTATGG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3474A>G	15.37:g.42019421A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	87	41	0.471264	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																			A|0.988;G|0.012	0.012	strong		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42019421	A	G	42019421	2	3	22	1	0	0	0	0	0	0	0	1	9540	204	8	2		2	MGA	15	42019421	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	191664	42019421	60511971	7664	12772										
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu	37	chr15	42137201	42137201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctggccgagcgtgcccGcttgggctacccaagctgct	15	14	0	0	rs34807597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42137201G>A	ENST00000452633.1	+	14	1524	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R622H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R622H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R622H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R391H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	391	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		R -> H (in dbSNP:rs34807597).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAGCGTGCCCGCTTGGGCTAC	0.672													G|||	77	0.0153754	0.0552	0.0043	5008	,	,		15685	0.0		0.001	False		,,,				2504	0.0				p.R622H		Atlas-SNP	.											.	JMJD7-PLA2G4B	90	.	0			c.G1865A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG	189,4209		7,175,2017	16	17	17		1172,1865,1865	-1.9	0.4	15	dbSNP_126	17	3,8581		0,3,4289	yes	missense,missense,missense	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	29,29,29	7,178,6306	AA,AG,GG		0.0349,4.2974,1.479	benign,benign,benign	391/782,622/894,622/1013	42137201	192,12790	2199	4292	6491	SO:0001583	missense	8681	exon18			GTGCCCGCTTGGG	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1172G>A	15.37:g.42137201G>A	ENSP00000396045:p.Arg391His	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	36	0.455696	NM_005090	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	25	0.011446886446886446	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	.	10.30	1.310981	0.23821	0.042974	3.49E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.51	-1.88	0.07713	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.492693	0.18810	N	0.130531	T	0.01156	0.0038	M	0.65498	2.005	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.003;0.003	B;B;B;B	0.12156	0.007;0.0;0.002;0.001	T	0.30001	-0.9993	10	0.62326	D	0.03	-2.658	5.6051	0.17374	0.6081:0.0:0.2403:0.1516	rs34807597	391;622;92;622	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	H	622;622;391;391	ENSP00000371886:R622H;ENSP00000342785:R622H;ENSP00000416610:R391H;ENSP00000396045:R391H	ENSP00000342785:R622H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39924493	0.002000	0.14202	0.381000	0.26106	0.055000	0.15305	0.861000	0.27885	-0.138000	0.11434	0.561000	0.74099	CGC	G|0.984;A|0.016	0.016	strong		0.672	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		A	42137201	G	A	42137201	3	1	22	1	0	0	0	0	1	0	0	0	7955	1087	38	1	1935	1	JMJD7-PLA2G4B	15	42137201	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117780	42137201	60394191	7665	12773										
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu	37	chr15	42138572	42138572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcatcctcacttctccaCatggaaaggtacctgcttct	6	14	4	0	rs36126315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42138572C>T	ENST00000452633.1	+	18	2124	c.1772C>T	c.(1771-1773)aCa>aTa	p.T591I	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.T822I|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.T822I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T822I|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.T591I			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	591	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		T -> I (in dbSNP:rs36126315).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CACTTCTCCACATGGAAAGGT	0.547													C|||	76	0.0151757	0.0552	0.0029	5008	,	,		20192	0.0		0.001	False		,,,				2504	0.0				p.T822I		Atlas-SNP	.											.	JMJD7-PLA2G4B	90	.	0			c.C2465T						PASS	.	C	ILE/THR,ILE/THR,ILE/THR	194,4212		8,178,2017	99	97	98		1772,2465,2465	3	0.6	15	dbSNP_126	98	3,8597		0,3,4297	yes	missense,missense,missense	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	89,89,89	8,181,6314	TT,TC,CC		0.0349,4.4031,1.5147	benign,benign,benign	591/782,822/894,822/1013	42138572	197,12809	2203	4300	6503	SO:0001583	missense	8681	exon22			TCTCCACATGGAA	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1772C>T	15.37:g.42138572C>T	ENSP00000396045:p.Thr591Ile	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	112	55	0.491071	NM_005090	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	24	0.01098901098901099	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.97	2.990575	0.54041	0.044031	3.49E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	4.96	3.05	0.35203	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.072970	0.07218	N	0.860326	T	0.04452	0.0122	L	0.49778	1.585	0.23454	N	0.997645	P;B;B	0.45283	0.855;0.078;0.178	P;B;B	0.47470	0.548;0.055;0.086	T	0.16928	-1.0386	10	0.40728	T	0.16	-4.9065	7.2416	0.26100	0.0:0.6949:0.144:0.1611	rs36126315	591;822;822	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	I	822;822;591;591	ENSP00000371886:T822I;ENSP00000342785:T822I;ENSP00000416610:T591I;ENSP00000396045:T591I	ENSP00000342785:T822I	T	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39925864	0.227000	0.23707	0.645000	0.29479	0.900000	0.52787	0.800000	0.27042	0.727000	0.32360	0.655000	0.94253	ACA	C|0.985;T|0.015	0.015	strong		0.547	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		T	42138572	C	T	42138572	3	4	22	1	0	0	0	0	1	0	0	0	7955	478	17	2	2551	2	JMJD7-PLA2G4B	15	42138572	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1371	42138572	60392820	7666	12774										
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu	37	chr15	42139875	42139875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggacacccgaggaggcggcAgctggggaggtgaacctgtc	18	11	0	1	rs34424865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42139875A>G	ENST00000452633.1	+	21	2515	c.2163A>G	c.(2161-2163)gcA>gcG	p.A721A	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.A952A|PLA2G4B_ENST00000542534.2_Silent_p.A952A|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.Q890R|PLA2G4B_ENST00000458483.1_Silent_p.A721A			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	721	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGGAGGCGGCAGCTGGGGAGG	0.617													a|||	78	0.0155751	0.0567	0.0029	5008	,	,		17421	0.0		0.001	False		,,,				2504	0.0				p.Q890R		Atlas-SNP	.											.	JMJD7-PLA2G4B	90	.	0			c.A2669G						PASS	.	A	,ARG/GLN,	196,4210		8,180,2015	74	66	69		2163,2669,2856	-9.6	0	15	dbSNP_126	69	3,8597		0,3,4297	yes	coding-synonymous,missense,coding-synonymous	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	,43,	8,183,6312	GG,GA,AA		0.0349,4.4485,1.5301	,,	721/782,890/894,952/1013	42139875	199,12807	2203	4300	6503	SO:0001819	synonymous_variant	8681	exon24			GGCGGCAGCTGGG	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2163A>G	15.37:g.42139875A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	91	49	0.538462	NM_001198588	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	26	0.011904761904761904	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	5.025	0.190237	0.09547	0.044485	3.49E-4	ENSG00000168970	ENST00000342159	T	0.01484	4.84	4.77	-9.55	0.00569	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.47249	-0.9132	8	0.87932	D	0	-0.1604	2.4723	0.04567	0.2543:0.1668:0.4127:0.1662	rs34424865	890	P0C869-7	.	R	890	ENSP00000342785:Q890R	ENSP00000342785:Q890R	Q	+	2	0	JMJD7-PLA2G4B	39927167	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.099000	0.00295	-2.603000	0.00450	-2.852000	0.00102	CAG	A|0.984;G|0.016	0.016	strong		0.617	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		G	42139875	A	G	42139875	2	3	22	1	0	0	0	0	0	0	0	1	7955	175	7	3		3	JMJD7-PLA2G4B	15	42139875	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1303	42139875	60391517	7667	12775										
SPTBN5	51332	hgsc.bcm.edu	37	chr15	42171483	42171483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccacactttggaggaagtGgaccctcctctccagcacca	9	15	1	0	rs1197682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42171483G>A	ENST00000320955.6	-	16	3384	c.3157C>T	c.(3157-3159)Cac>Tac	p.H1053Y		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1053				H -> Y (in Ref. 1; AAF65317). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGAGGAAGTGGACCCTCCTC	0.642													G|||	646	0.128994	0.2163	0.0879	5008	,	,		18981	0.1954		0.0517	False		,,,				2504	0.0511				p.H1018Y		Atlas-SNP	.											.	SPTBN5	171	.	0			c.C3052T						PASS	.	G	TYR/HIS	745,3323		60,625,1349	50	54	53		3052	-0.5	0	15	dbSNP_87	53	386,8012		11,364,3824	yes	missense	SPTBN5	NM_016642.2	83	71,989,5173	AA,AG,GG		4.5963,18.3137,9.0727	benign	1018/3640	42171483	1131,11335	2034	4199	6233	SO:0001583	missense	51332	exon16			GGAAGTGGACCCT	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3157C>T	15.37:g.42171483G>A	ENSP00000317790:p.His1053Tyr	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	52	29	0.557692	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		275	0.1259157509157509	99	0.20121951219512196	23	0.06353591160220995	114	0.1993006993006993	39	0.051451187335092345	.	12.68	2.011168	0.35511	0.183137	0.045963	ENSG00000137877	ENST00000320955	T	0.34859	1.34	4.4	-0.479	0.12089	.	1.280010	0.05249	N	0.513514	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.22800	-1.0206	6	0.52906	T	0.07	.	5.4222	0.16405	0.4059:0.2244:0.3697:0.0	rs1197682;rs1624838;rs57712460;rs1197682	.	.	.	Y	1053	ENSP00000317790:H1053Y	ENSP00000317790:H1053Y	H	-	1	0	SPTBN5	39958775	0.224000	0.23674	0.000000	0.03702	0.488000	0.33401	0.878000	0.28126	-0.003000	0.14444	0.313000	0.20887	CAC	G|0.866;A|0.134	0.134	strong		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42171483	G	A	42171483	3	1	22	1	0	0	0	0	1	0	0	0	15121	1348	47	2	8079	2	SPTBN5	15	42171483	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31608	42171483	60359909	7668	12776										
SPTBN5	51332	hgsc.bcm.edu	37	chr15	42179424	42179424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccaccttagtgagtctcCtctggacagtctgcccctga	8	17	3	2	rs890499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42179424C>T	ENST00000320955.6	-	6	1102	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	292					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTGAGTCTCCTCTGGACAGT	0.612													C|||	306	0.0611022	0.2239	0.013	5008	,	,		19925	0.0		0.001	False		,,,				2504	0.0				p.R257K		Atlas-SNP	.											.	SPTBN5	171	.	0			c.G770A						PASS	.	C	LYS/ARG	563,2887		35,493,1197	25	33	30		770	1.1	0.8	15	dbSNP_86	30	9,6849		0,9,3420	yes	missense	SPTBN5	NM_016642.2	26	35,502,4617	TT,TC,CC		0.1312,16.3188,5.5491	possibly-damaging	257/3640	42179424	572,9736	1725	3429	5154	SO:0001583	missense	51332	exon6			AGTCTCCTCTGGA	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.875G>A	15.37:g.42179424C>T	ENSP00000317790:p.Arg292Lys	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	274	140	0.510949	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		106	0.048534798534798536	103	0.20934959349593496	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	5.966	0.362219	0.11296	0.163188	0.001312	ENSG00000137877	ENST00000320955	T	0.69806	-0.43	4.49	1.08	0.20341	.	0.076889	0.48286	D	0.000197	T	0.00039	0.0001	N	0.05383	-0.06	0.43540	P	0.00416099999999997	P	0.35612	0.512	B	0.24541	0.054	T	0.22906	-1.0203	9	0.02654	T	1	.	5.7068	0.17913	0.0:0.3579:0.0:0.6421	rs890499;rs1704358;rs890499	292	Q9NRC6	SPTN5_HUMAN	K	292	ENSP00000317790:R292K	ENSP00000317790:R292K	R	-	2	0	SPTBN5	39966716	0.982000	0.34865	0.797000	0.32132	0.954000	0.61252	0.676000	0.25247	0.357000	0.24183	0.591000	0.81541	AGG	C|0.929;T|0.071	0.071	strong		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42179424	C	T	42179424	3	4	22	1	0	0	0	0	1	0	0	0	15121	681	24	2	10401	2	SPTBN5	15	42179424	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7941	42179424	60351968	7669	12777										
EHD4	30844	hgsc.bcm.edu	37	chr15	42192885	42192885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgtgcgaggggggcacGaggtgggggggcaggctgct	22	8	0	0	rs113393602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42192885G>A	ENST00000220325.4	-	6	1667	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	528	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGGGGGGCACGAGGTGGGGGG	0.677													G|||	205	0.0409345	0.0234	0.0634	5008	,	,		14759	0.0129		0.0517	False		,,,				2504	0.0665				p.L528L		Atlas-SNP	.											.	EHD4	46	.	0			c.C1584T						PASS	.	G		133,4269		2,129,2070	22	22	22		1584	-8.8	0.8	15	dbSNP_132	22	494,8100		17,460,3820	no	coding-synonymous	EHD4	NM_139265.3		19,589,5890	AA,AG,GG		5.7482,3.0214,4.8246		528/542	42192885	627,12369	2201	4297	6498	SO:0001819	synonymous_variant	30844	exon6			GGGCACGAGGTGG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1584C>T	15.37:g.42192885G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	27	16	0.592593	NM_139265	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																			A|0.047;C|0.000;G|0.953	0.047	strong		0.677	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42192885	G	A	42192885	2	1	22	1	0	0	0	0	0	0	0	1	4980	1045	37	1		1	EHD4	15	42192885	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13461	42192885	60338507	7670	12778										
PLA2G4E	123745	hgsc.bcm.edu	37	chr15	42289456	42289456	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcacgtccagtgtctcagGgctggagggagagaggaccc	16	12	1	1	rs79040960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42289456G>C	ENST00000399518.3	-	11	1462	c.976C>G	c.(976-978)Cct>Gct	p.P326A	PLA2G4E_ENST00000413860.2_Splice_Site_p.P297A|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	314	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGTGTCTCAGGGCTGGAGGGA	0.607													G|||	125	0.0249601	0.0885	0.0115	5008	,	,		19005	0.0		0.0	False		,,,				2504	0.0				p.P326A		Atlas-SNP	.											.	PLA2G4E	60	.	0			c.C976G						PASS	.	G	ALA/PRO	214,3522		2,210,1656	11	14	13		976	-0.7	0.2	15	dbSNP_131	13	2,7470		0,2,3734	yes	missense-near-splice	PLA2G4E	NM_001206670.1	27	2,212,5390	CC,CG,GG		0.0268,5.7281,1.9272	benign	326/869	42289456	216,10992	1868	3736	5604	SO:0001630	splice_region_variant	123745	exon11			TCTCAGGGCTGGA		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.975-1C>G	15.37:g.42289456G>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	106	53	0.5	NM_001206670	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	33	0.01510989010989011	31	0.06300813008130081	2	0.0055248618784530384	0	0.0	0	0.0	G	12.97	2.097162	0.37048	0.057281	2.68E-4	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01599	4.86;4.74	5.68	-0.726	0.11170	.	0.499688	0.17527	U	0.171007	T	0.00356	0.0011	M	0.72118	2.19	0.22656	N	0.998886	B	0.32731	0.382	B	0.32677	0.15	T	0.37033	-0.9723	10	0.51188	T	0.08	-4.1952	10.0101	0.41981	0.4735:0.0:0.5265:0.0	.	297	C9JK77	.	A	326;297	ENSP00000382434:P326A;ENSP00000413897:P297A	ENSP00000382434:P326A	P	-	1	0	PLA2G4E	40076748	0.130000	0.22417	0.193000	0.23327	0.022000	0.10575	-0.429000	0.06982	0.048000	0.15891	-0.251000	0.11542	CCT	G|0.982;C|0.018	0.018	strong		0.607	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	Missense_Mutation	C	42289456	G	C	42289456	5	2	22	1	0	0	0	0	0	0	1	0	12005	1246	43	4	1670	4	PLA2G4E	15	42289456	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96571	42289456	60241936	7671	12779										
PLA2G4F	255189	hgsc.bcm.edu	37	chr15	42434905	42434905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagtacttctctgtcatcTtcaagacctgagcaggagca	10	11	4	2	rs144100358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42434905T>C	ENST00000382396.4	-	19	2236	c.2150A>G	c.(2149-2151)aAg>aGg	p.K717R	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.K719R			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	717	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTGTCATCTTCAAGACCTG	0.607													T|||	38	0.00758786	0.028	0.0014	5008	,	,		15524	0.0		0.0	False		,,,				2504	0.0				p.K717R		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.A2150G						PASS	.	T	ARG/LYS	97,4309	78.3+/-116.7	5,87,2111	70	58	62		2150	3.5	1	15	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	yes	missense	PLA2G4F	NM_213600.3	26	5,88,6409	CC,CT,TT		0.0116,2.2015,0.7536	benign	717/850	42434905	98,12906	2203	4299	6502	SO:0001583	missense	255189	exon19			GTCATCTTCAAGA		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2150A>G	15.37:g.42434905T>C	ENSP00000371833:p.Lys717Arg	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	114	67	0.587719	NM_213600	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	T	11.00	1.510289	0.27036	0.022015	1.16E-4	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.11821	2.74;2.74	4.69	3.53	0.40419	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.502059	0.18373	N	0.143181	T	0.02304	0.0071	N	0.12887	0.27	0.23611	N	0.997295	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.32052	-0.9921	10	0.30854	T	0.27	-12.5606	10.4046	0.44249	0.0:0.0796:0.0:0.9204	.	504;719;717	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	R	713;719;717;717	ENSP00000380442:K719R;ENSP00000371833:K717R	ENSP00000290497:K713R	K	-	2	0	PLA2G4F	40222197	0.787000	0.28750	0.998000	0.56505	0.446000	0.32137	3.246000	0.51414	0.908000	0.36671	0.482000	0.46254	AAG	T|0.992;C|0.008	0.008	strong		0.607	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		C	42434905	T	C	42434905	3	2	22	1	0	0	0	0	1	0	0	0	12006	1609	56	3	407	3	PLA2G4F	15	42434905	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	145449	42434905	60096487	7672	12780										
PLA2G4F	255189	hgsc.bcm.edu	37	chr15	42438380	42438380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacactggtgtaaatgggGtaagggttctgaccctggcg	15	7	1	2	rs80108792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42438380G>A	ENST00000382396.4	-	14	1565	c.1479C>T	c.(1477-1479)taC>taT	p.Y493Y	PLA2G4F_ENST00000397272.3_Silent_p.Y495Y			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	493	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGTAAATGGGGTAAGGGTTCT	0.582													G|||	69	0.013778	0.0507	0.0014	5008	,	,		20601	0.0		0.001	False		,,,				2504	0.0				p.Y493Y		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.C1479T						PASS	.	G		155,4251	105.6+/-144.1	4,147,2052	100	89	92		1479	-2	1	15	dbSNP_132	92	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PLA2G4F	NM_213600.3		4,148,6350	AA,AG,GG		0.0116,3.5179,1.1996		493/850	42438380	156,12848	2203	4299	6502	SO:0001819	synonymous_variant	255189	exon14			AATGGGGTAAGGG		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1479C>T	15.37:g.42438380G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	90	47	0.522222	NM_213600	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																			G|0.988;A|0.012	0.012	strong		0.582	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		A	42438380	G	A	42438380	2	1	22	1	0	0	0	0	0	0	0	1	12006	1256	44	2		2	PLA2G4F	15	42438380	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3475	42438380	60093012	7673	12781										
PLA2G4F	255189	hgsc.bcm.edu	37	chr15	42448659	42448659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagtgcctccacagagggCccctcttctctctcttctga	8	17	4	2	rs636604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42448659C>A	ENST00000382396.4	-	1	175	c.89G>T	c.(88-90)gGc>gTc	p.G30V	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.G30V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	30			G -> V (in dbSNP:rs636604).		arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCACAGAGGGCCCCTCTTCTC	0.627													C|||	482	0.096246	0.1536	0.1268	5008	,	,		16677	0.0853		0.0089	False		,,,				2504	0.0982				p.G30V		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.G89T						PASS	.	C	VAL/GLY	509,3883		24,461,1711	22	20	21		89	-1.4	0	15	dbSNP_83	21	47,8517		0,47,4235	yes	missense	PLA2G4F	NM_213600.3	109	24,508,5946	AA,AC,CC		0.5488,11.5893,4.2914	possibly-damaging	30/850	42448659	556,12400	2196	4282	6478	SO:0001583	missense	255189	exon1			AGAGGGCCCCTCT		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.89G>T	15.37:g.42448659C>A	ENSP00000371833:p.Gly30Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	135	70	0.518519	NM_213600	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	184	0.08424908424908426	79	0.16056910569105692	47	0.1298342541436464	53	0.09265734265734266	5	0.006596306068601583	C	9.721	1.159787	0.21454	0.115893	0.005488	ENSG00000168907	ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01397	4.94;4.98	5.41	-1.43	0.08884	.	0.682863	0.13279	N	0.399921	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	1.999999999946489E-6	B	0.28713	0.22	B	0.27500	0.08	T	0.46925	-0.9156	9	0.59425	D	0.04	-0.0074	6.7828	0.23657	0.0:0.3251:0.129:0.5459	rs636604;rs52813203;rs636604	30	Q68DD2	PA24F_HUMAN	V	30	ENSP00000380442:G30V;ENSP00000371833:G30V	ENSP00000350604:G30V	G	-	2	0	PLA2G4F	40235951	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.066000	0.14489	-0.449000	0.07117	-0.136000	0.14681	GGC	C|0.939;A|0.061	0.061	strong		0.627	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		A	42448659	C	A	42448659	3	1	22	1	0	0	0	0	1	0	0	0	12006	739	26	4	2540	4	PLA2G4F	15	42448659	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10279	42448659	60082733	7674	12782										
VPS39	23339	hgsc.bcm.edu	37	chr15	42459034	42459034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtacttgtgagccttcttTagcacgtgctcgctctcctc	8	14	2	1	rs1619030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42459034T>C	ENST00000348544.4	-	15	1487	c.1488A>G	c.(1486-1488)ctA>ctG	p.L496L	VPS39_ENST00000318006.5_Silent_p.L485L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	496					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GAGCCTTCTTTAGCACGTGCT	0.547													C|||	1995	0.398363	0.739	0.4942	5008	,	,		20631	0.1815		0.1332	False		,,,				2504	0.3661				p.L485L		Atlas-SNP	.											.	VPS39	53	.	0			c.A1455G						PASS	.	C		2756,1650	505.1+/-366.0	893,970,340	145	128	134		1455	4.9	1	15	dbSNP_89	134	1201,7397	762.9+/-407.6	97,1007,3195	no	coding-synonymous	VPS39	NM_015289.2		990,1977,3535	CC,CT,TT		13.9684,37.4489,30.4291		485/876	42459034	3957,9047	2203	4299	6502	SO:0001819	synonymous_variant	23339	exon14			CTTCTTTAGCACG	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1488A>G	15.37:g.42459034T>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	165	164	0.993939	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																			T|0.694;C|0.306	0.306	strong		0.547	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		C	42459034	T	C	42459034	2	2	22	1	0	0	0	0	0	0	0	1	17206	1741	61	2		2	VPS39	15	42459034	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10375	42459034	60072358	7675	12783										
GANC	2595	hgsc.bcm.edu	37	chr15	42585099	42585099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatactttgagcatctacagAttcttcacaaacaaaggtat	5	8	3	2	rs16973015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42585099A>G	ENST00000318010.8	+	5	736	c.496A>G	c.(496-498)Att>Gtt	p.I166V	GANC_ENST00000566442.1_Missense_Mutation_p.I166V	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	166			I -> V (in dbSNP:rs16973015).		carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCATCTACAGATTCTTCACAA	0.363													A|||	64	0.0127796	0.0212	0.0058	5008	,	,		20822	0.0		0.008	False		,,,				2504	0.0245				p.I166V		Atlas-SNP	.											.	GANC	57	.	0			c.A496G						PASS	.	A	VAL/ILE	63,4343	59.9+/-96.7	0,63,2140	128	123	125		496	0.4	0.9	15	dbSNP_123	125	39,8559	26.8+/-75.7	0,39,4260	yes	missense	GANC	NM_198141.2	29	0,102,6400	GG,GA,AA		0.4536,1.4299,0.7844	benign	166/915	42585099	102,12902	2203	4299	6502	SO:0001583	missense	2595	exon5			CTACAGATTCTTC	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.496A>G	15.37:g.42585099A>G	ENSP00000326227:p.Ile166Val	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	170	99	0.582353	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	22	0.010073260073260074	13	0.026422764227642278	4	0.011049723756906077	0	0.0	5	0.006596306068601583	A	2.471	-0.321955	0.05386	0.014299	0.004536	ENSG00000214013	ENST00000318010	T	0.15487	2.42	5.27	0.387	0.16259	Glycoside hydrolase-type carbohydrate-binding (1);	1.002620	0.08037	N	0.994447	T	0.02342	0.0072	N	0.08118	0	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40553	-0.9557	10	0.25106	T	0.35	-0.2169	5.5278	0.16967	0.4019:0.2069:0.3911:0.0	rs16973015;rs52796001;rs16973015	166;166	Q8TET4;Q2M2A3	GANC_HUMAN;.	V	166	ENSP00000326227:I166V	ENSP00000326227:I166V	I	+	1	0	GANC	40372391	0.078000	0.21339	0.939000	0.37840	0.098000	0.18820	0.247000	0.18179	-0.089000	0.12484	0.528000	0.53228	ATT	A|0.989;G|0.011	0.011	strong		0.363	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		G	42585099	A	G	42585099	3	3	22	1	0	0	0	0	1	0	0	0	6234	333	12	2	514	2	GANC	15	42585099	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126065	42585099	59946293	7676	12784										
GANC	2595	hgsc.bcm.edu	37	chr15	42631928	42631928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagtgcgttggtaccaggcTggagcctaccagcccttctt	11	13	1	0	rs36023127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42631928T>C	ENST00000318010.8	+	17	2145	c.1905T>C	c.(1903-1905)gcT>gcC	p.A635A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	635					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.A635A(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGTACCAGGCTGGAGCCTACC	0.567													C|||	473	0.0944489	0.1399	0.062	5008	,	,		15919	0.002		0.0845	False		,,,				2504	0.1616				p.A635A		Atlas-SNP	.											GANC,brain,glioma,0,1	GANC	57	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.T1905C						scavenged	.	C		615,3791	769.5+/-413.7	45,525,1633	88	84	86		1905	-12.1	0.1	15	dbSNP_126	86	695,7903	787.5+/-407.6	32,631,3636	no	coding-synonymous	GANC	NM_198141.2		77,1156,5269	CC,CT,TT		8.0833,13.9582,10.0738		635/915	42631928	1310,11694	2203	4299	6502	SO:0001819	synonymous_variant	2595	exon17			CCAGGCTGGAGCC	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1905T>C	15.37:g.42631928T>C		Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	96	95	0.989583	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	CCDS10084.1																																																																																			T|0.910;C|0.090	0.090	strong		0.567	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42631928	T	C	42631928	2	2	22	1	0	0	0	0	0	0	0	1	6234	1567	55	3		3	GANC	15	42631928	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46829	42631928	59899464	7677	12785										
GANC	2595	hgsc.bcm.edu	37	chr15	42631976	42631976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccaccatgaacaccaaGcgacgagagccctggctctt	9	15	1	2	rs35039186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42631976G>A	ENST00000318010.8	+	17	2193	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	651					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.K651K(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGAACACCAAGCGACGAGAGC	0.572													G|||	473	0.0944489	0.1399	0.062	5008	,	,		17061	0.002		0.0845	False		,,,				2504	0.1616				p.K651K		Atlas-SNP	.											GANC,brain,glioma,0,1	GANC	57	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G1953A						PASS	.	G		615,3791	266.5+/-267.3	45,525,1633	72	65	67		1953	4.2	1	15	dbSNP_126	67	693,7905	173.2+/-223.7	31,631,3637	no	coding-synonymous	GANC	NM_198141.2		76,1156,5270	AA,AG,GG		8.06,13.9582,10.0584		651/915	42631976	1308,11696	2203	4299	6502	SO:0001819	synonymous_variant	2595	exon17			CACCAAGCGACGA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1953G>A	15.37:g.42631976G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	121	119	0.983471	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	CCDS10084.1																																																																																			G|0.910;A|0.090	0.090	strong		0.572	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		A	42631976	G	A	42631976	2	1	22	1	0	0	0	0	0	0	0	1	6234	962	34	2		2	GANC	15	42631976	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48	42631976	59899416	7678	12786										
GANC	2595	hgsc.bcm.edu	37	chr15	42643529	42643529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttgtatctattccagttTtgctgaccagaggggtcatt	10	7	2	2	rs7181742	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42643529T>C	ENST00000318010.8	+	23	2774	c.2534T>C	c.(2533-2535)tTt>tCt	p.F845S	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	845			F -> S (in dbSNP:rs7181742). {ECO:0000269|PubMed:12370436}.		carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TATTCCAGTTTTGCTGACCAG	0.488													C|||	1895	0.378395	0.7405	0.3847	5008	,	,		17663	0.1577		0.1332	False		,,,				2504	0.364				p.F845S		Atlas-SNP	.											.	GANC	57	.	0			c.T2534C						PASS	.	C	SER/PHE	2763,1643	503.7+/-365.6	905,953,345	118	107	111		2534	3.5	1	15	dbSNP_116	111	1195,7403	763.2+/-407.6	97,1001,3201	yes	missense	GANC	NM_198141.2	155	1002,1954,3546	CC,CT,TT		13.8986,37.2901,30.4368	benign	845/915	42643529	3958,9046	2203	4299	6502	SO:0001583	missense	2595	exon23			CCAGTTTTGCTGA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2534T>C	15.37:g.42643529T>C	ENSP00000326227:p.Phe845Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	616	0.28205128205128205	334	0.6788617886178862	119	0.3287292817679558	73	0.12762237762237763	90	0.11873350923482849	C	10.48	1.362931	0.24684	0.627099	0.138986	ENSG00000214013	ENST00000318010	D	0.85773	-2.03	5.38	3.48	0.39840	.	0.456476	0.26045	N	0.026670	T	0.00012	0.0000	N	0.00377	-1.585	0.09310	P	0.9999999897697	B	0.02656	0.0	B	0.01281	0.0	T	0.45629	-0.9248	9	0.02654	T	1	-7.2067	4.1575	0.10268	0.0915:0.1781:0.5876:0.1428	rs7181742;rs52820484;rs58917918;rs7181742	845	Q8TET4	GANC_HUMAN	S	845	ENSP00000326227:F845S	ENSP00000447925:F77S	F	+	2	0	GANC	40430821	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	2.048000	0.41278	0.677000	0.31305	-0.128000	0.14901	TTT	T|0.702;C|0.298	0.298	strong		0.488	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42643529	T	C	42643529	3	2	22	1	0	0	0	0	1	0	0	0	6234	1841	64	2	2624	2	GANC	15	42643529	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11553	42643529	59887863	7679	12787										
GANC	2595	hgsc.bcm.edu	37	chr15	42644235	42644235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgctatttagatggtaaAgatcagcctgtggcttttac	9	7	2	2	rs145163630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42644235A>G	ENST00000318010.8	+	24	2883	c.2643A>G	c.(2641-2643)aaA>aaG	p.K881K	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	881					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TAGATGGTAAAGATCAGCCTG	0.408													A|||	2	0.000399361	0.0015	0.0	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0				p.K881K		Atlas-SNP	.											.	GANC	57	.	0			c.A2643G						PASS	.	A		12,4394	16.8+/-37.8	0,12,2191	134	117	123		2643	1.8	0.2	15	dbSNP_134	123	0,8598		0,0,4299	no	coding-synonymous	GANC	NM_198141.2		0,12,6490	GG,GA,AA		0.0,0.2724,0.0923		881/915	42644235	12,12992	2203	4299	6502	SO:0001819	synonymous_variant	2595	exon24			TGGTAAAGATCAG	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2643A>G	15.37:g.42644235A>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	CCDS10084.1																																																																																			A|0.999;G|0.001	0.001	strong		0.408	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		G	42644235	A	G	42644235	2	3	22	1	0	0	0	0	0	0	0	1	6234	69	3	3		3	GANC	15	42644235	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	706	42644235	59887157	7680	12788										
CAPN3	825	hgsc.bcm.edu	37	chr15	42652099	42652099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcccagagcaaggccacTgaggctgggggtggaaaccc	16	13	0	2	rs1801496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42652099T>C	ENST00000397163.3	+	1	315	c.96T>C	c.(94-96)acT>acC	p.T32T	CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Silent_p.T32T|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.T32T|CAPN3_ENST00000318023.7_Silent_p.T32T	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	32					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAAGGCCACTGAGGCTGGGG	0.572													C|||	472	0.0942492	0.1392	0.062	5008	,	,		15952	0.002		0.0845	False		,,,				2504	0.1616				p.T32T		Atlas-SNP	.											.	CAPN3	172	.	0			c.T96C						PASS	.	C	,,	611,3795	763.1+/-413.2	45,521,1637	92	107	102		96,96,96	-9.6	0	15	dbSNP_89	102	693,7905	783.3+/-407.6	31,631,3637	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	,,	76,1152,5274	CC,CT,TT		8.06,13.8675,10.0277	,,	32/822,32/816,32/730	42652099	1304,11700	2203	4299	6502	SO:0001819	synonymous_variant	825	exon1			GGCCACTGAGGCT	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.96T>C	15.37:g.42652099T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_000070	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																			T|0.910;C|0.090	0.090	strong		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			C	42652099	T	C	42652099	2	2	22	1	0	0	0	0	0	0	0	1	2628	1567	55	3		3	CAPN3	15	42652099	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7864	42652099	59879293	7681	12789										
CAPN3	825	hgsc.bcm.edu	37	chr15	42680058	42680058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgcaatgagttctggagTgctctgctggagaaggctta	13	9	2	2	rs17593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42680058T>C	ENST00000397163.3	+	4	825	c.606T>C	c.(604-606)agT>agC	p.S202S	CAPN3_ENST00000356316.3_Silent_p.S115S|CAPN3_ENST00000349748.3_Silent_p.S202S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.S202S|CAPN3_ENST00000318023.7_Silent_p.S202S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	202	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A). {ECO:0000269|PubMed:9452114}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTTCTGGAGTGCTCTGCTGG	0.498													C|||	321	0.0640974	0.2095	0.0159	5008	,	,		22401	0.0		0.0089	False		,,,				2504	0.0245				p.S202S		Atlas-SNP	.											.	CAPN3	172	.	0			c.T606C						PASS	.	C	,,	698,3708	761.2+/-413.0	49,600,1554	192	164	174		606,606,606	-4.9	0.8	15	dbSNP_63	174	38,8560	817.5+/-406.9	0,38,4261	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	,,	49,638,5815	CC,CT,TT		0.442,15.842,5.6598	,,	202/822,202/816,202/730	42680058	736,12268	2203	4299	6502	SO:0001819	synonymous_variant	825	exon4			CTGGAGTGCTCTG	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.606T>C	15.37:g.42680058T>C		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	163	163	1	NM_000070	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																			T|0.944;C|0.056	0.056	strong		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			C	42680058	T	C	42680058	2	2	22	1	0	0	0	0	0	0	0	1	2628	1693	59	2		2	CAPN3	15	42680058	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27959	42680058	59851334	7682	12790										
CAPN3	825	hgsc.bcm.edu	37	chr15	42681199	42681199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacttcacaggaggggtgGcagagttttttgagatcagg	16	5	2	2	rs1801449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42681199G>A	ENST00000397163.3	+	5	925	c.706G>A	c.(706-708)Gca>Aca	p.A236T	CAPN3_ENST00000356316.3_Missense_Mutation_p.A149T|CAPN3_ENST00000349748.3_Missense_Mutation_p.A236T|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.A236T|CAPN3_ENST00000318023.7_Missense_Mutation_p.A236T	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	236	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		A -> T (in dbSNP:rs1801449). {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGGAGGGGTGGCAGAGTTTTT	0.502													A|||	1353	0.270168	0.7458	0.0922	5008	,	,		18256	0.1121		0.0477	False		,,,				2504	0.1452				p.A236T		Atlas-SNP	.											.	CAPN3	172	.	0			c.G706A						PASS	.	A	THR/ALA,THR/ALA,THR/ALA	2737,1669	509.4+/-367.2	875,987,341	119	114	116		706,706,706	5.4	1	15	dbSNP_89	116	427,8171	800.2+/-407.4	11,405,3883	yes	missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	58,58,58	886,1392,4224	AA,AG,GG		4.9663,37.8802,24.331	benign,benign,benign	236/822,236/816,236/730	42681199	3164,9840	2203	4299	6502	SO:0001583	missense	825	exon5			GGGGTGGCAGAGT	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.706G>A	15.37:g.42681199G>A	ENSP00000380349:p.Ala236Thr	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	229	107	0.467249	NM_000070	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	483	0.22115384615384615	352	0.7154471544715447	44	0.12154696132596685	51	0.08916083916083917	36	0.047493403693931395	A	14.44	2.535870	0.45176	0.621198	0.049663	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.41	5.41	0.78517	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.04805	-0.155	0.39232	P	0.036297000000000024	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.10450	0.0;0.001;0.001;0.001;0.001;0.005	T	0.38972	-0.9636	9	0.02654	T	1	.	11.4886	0.50369	0.9302:0.0:0.0698:0.0	rs1801449;rs58405398;rs1801449	149;149;236;236;236;149	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	T	149;236;236;236;236	ENSP00000348667:A149T;ENSP00000380349:A236T;ENSP00000350181:A236T;ENSP00000183936:A236T;ENSP00000326281:A236T	ENSP00000326281:A236T	A	+	1	0	CAPN3	40468491	1.000000	0.71417	0.990000	0.47175	0.874000	0.50279	7.222000	0.78025	1.082000	0.41137	-0.361000	0.07541	GCA	G|0.759;A|0.241	0.241	strong		0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42681199	G	A	42681199	3	1	22	1	0	0	0	0	1	0	0	0	2628	1203	42	2	776	2	CAPN3	15	42681199	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1141	42681199	59850193	7683	12791										
ZFP106	64397	hgsc.bcm.edu	37	chr15	42729508	42729508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatctgaattgcatttacGgcagcttggtgtccctcaaa	8	9	2	1	rs4924677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42729508G>A	ENST00000263805.4	-	10	4925	c.4599C>T	c.(4597-4599)gcC>gcT	p.A1533A	ZNF106_ENST00000565380.1_Silent_p.A761A|ZNF106_ENST00000565611.1_Silent_p.A718A	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1533					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTGCATTTACGGCAGCTTGGT	0.403													G|||	609	0.121605	0.1589	0.2522	5008	,	,		7129	0.1012		0.0109	False		,,,				2504	0.1135				p.A1533A		Atlas-SNP	.											.	ZFP106	117	.	0			c.C4599T						PASS	.	G		612,3794	266.5+/-267.3	45,522,1636	140	132	135		4599	-6.9	1	15	dbSNP_111	135	97,8501	54.0+/-114.7	1,95,4203	no	coding-synonymous	ZFP106	NM_022473.1		46,617,5839	AA,AG,GG		1.1282,13.8901,5.4522		1533/1884	42729508	709,12295	2203	4299	6502	SO:0001819	synonymous_variant	64397	exon10			ATTTACGGCAGCT	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4599C>T	15.37:g.42729508G>A		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	272	137	0.503676	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																			G|0.933;A|0.067	0.067	strong		0.403	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42729508	G	A	42729508	2	1	22	1	0	0	0	0	0	0	0	1	17634	1103	39	1		1	ZFP106	15	42729508	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48309	42729508	59801884	7684	12792										
ZFP106	64397	hgsc.bcm.edu	37	chr15	42740369	42740369	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatccgctaaactggagatCgcaagggctgaggatgcgct	14	10	0	2	rs3742996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42740369C>T	ENST00000263805.4	-	3	3293	c.2967G>A	c.(2965-2967)gcG>gcA	p.A989A	ZNF106_ENST00000565380.1_Silent_p.A217A|ZNF106_ENST00000565611.1_Silent_p.A174A	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	989					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACTGGAGATCGCAAGGGCTG	0.493													C|||	641	0.127995	0.1793	0.2579	5008	,	,		19406	0.1012		0.0109	False		,,,				2504	0.1145				p.A989A		Atlas-SNP	.											.	ZFP106	117	.	0			c.G2967A						PASS	.	C		673,3733	284.6+/-277.7	55,563,1585	168	159	162		2967	-4.8	0	15	dbSNP_107	162	98,8500	54.4+/-115.2	1,96,4202	no	coding-synonymous	ZFP106	NM_022473.1		56,659,5787	TT,TC,CC		1.1398,15.2746,5.9289		989/1884	42740369	771,12233	2203	4299	6502	SO:0001819	synonymous_variant	64397	exon3			GGAGATCGCAAGG	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2967G>A	15.37:g.42740369C>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	213	110	0.516432	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																			C|0.911;T|0.089	0.089	strong		0.493	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		T	42740369	C	T	42740369	2	4	22	1	0	0	0	0	0	0	0	1	17634	871	31	1		1	ZFP106	15	42740369	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10861	42740369	59791023	7685	12793										
ZFP106	64397	hgsc.bcm.edu	37	chr15	42742464	42742464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagattctttctggcgaactAtgggattacatggggaagtg	13	6	2	1	rs12101559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42742464A>G	ENST00000263805.4	-	2	2263	c.1937T>C	c.(1936-1938)aTa>aCa	p.I646T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	646			I -> T (in dbSNP:rs12101559).		insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGGCGAACTATGGGATTACA	0.458													G|||	1220	0.24361	0.4841	0.2824	5008	,	,		19882	0.1776		0.0229	False		,,,				2504	0.1861				p.I646T		Atlas-SNP	.											.	ZFP106	117	.	0			c.T1937C						PASS	.	G	THR/ILE	1748,2658	647.4+/-398.5	343,1062,798	173	181	178		1937	3.2	0	15	dbSNP_120	178	175,8423	811.3+/-407.1	2,171,4126	yes	missense	ZFP106	NM_022473.1	89	345,1233,4924	GG,GA,AA		2.0354,39.6732,14.7878	benign	646/1884	42742464	1923,11081	2203	4299	6502	SO:0001583	missense	64397	exon2			CGAACTATGGGAT	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1937T>C	15.37:g.42742464A>G	ENSP00000263805:p.Ile646Thr	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	220	109	0.495455	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	396	0.1813186813186813	219	0.4451219512195122	74	0.20441988950276244	91	0.1590909090909091	12	0.0158311345646438	G	0	-2.595337	0.00125	0.396732	0.020354	ENSG00000103994	ENST00000263805	T	0.30981	1.51	5.14	3.25	0.37280	.	0.545725	0.18118	N	0.151131	T	0.00012	0.0000	N	0.00707	-1.245	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	9	0.02654	T	1	-0.1179	7.5802	0.27961	0.1429:0.0:0.7231:0.134	rs12101559;rs52834511;rs61504795;rs12101559	646	Q9H2Y7	ZF106_HUMAN	T	646	ENSP00000263805:I646T	ENSP00000263805:I646T	I	-	2	0	ZFP106	40529756	0.012000	0.17670	0.001000	0.08648	0.275000	0.26752	0.777000	0.26718	0.425000	0.26087	-0.128000	0.14901	ATA	A|0.833;G|0.167	0.167	strong		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		G	42742464	A	G	42742464	3	3	22	1	0	0	0	0	1	0	0	0	17634	449	16	2	3786	2	ZFP106	15	42742464	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2095	42742464	59788928	7686	12794										
SNAP23	8773	hgsc.bcm.edu	37	chr15	42820589	42820589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcttcagcaaccaacaacGggagcagccagtggtggata	12	11	1	0	rs1060291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:42820589G>A	ENST00000249647.3	+	6	864	c.396G>A	c.(394-396)acG>acA	p.T132T	SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	132					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		AACCAACAACGGGAGCAGCCA	0.458													A|||	1416	0.282748	0.6611	0.2061	5008	,	,		14604	0.0079		0.2227	False		,,,				2504	0.1708				p.T132T		Atlas-SNP	.											SNAP23,colon,carcinoma,+1,1	SNAP23	15	1	0			c.G396A						PASS	.	A	,	2567,1839	535.6+/-374.3	751,1065,387	76	64	68		396,	-3.2	0	15	dbSNP_86	68	2086,6512	716.4+/-406.1	277,1532,2490	no	coding-synonymous,intron	SNAP23	NM_003825.3,NM_130798.2	,	1028,2597,2877	AA,AG,GG		24.2615,41.7385,35.7813	,	132/212,	42820589	4653,8351	2203	4299	6502	SO:0001819	synonymous_variant	8773	exon6			AACAACGGGAGCA	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.396G>A	15.37:g.42820589G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	83	41	0.493976	NM_003825	O00162|Q13602|Q6IAE3	Silent	SNP	ENST00000249647.3	37	CCDS10087.1																																																																																			G|0.678;A|0.322	0.322	strong		0.458	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		A	42820589	G	A	42820589	2	1	22	1	0	0	0	0	0	0	0	1	14829	1103	39	1		1	SNAP23	15	42820589	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78125	42820589	59710803	7687	12795										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43017426	43017426	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttctccaccagctcccgTagcaagaatagcagcaagtc	7	16	1	1	rs16957091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43017426T>G	ENST00000356231.3	-	27	3497	c.3474A>C	c.(3472-3474)ctA>ctC	p.L1158L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1158					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)		CCAGCTCCCGTAGCAAGAATA	0.577													G|||	2311	0.461462	0.9554	0.1916	5008	,	,		19027	0.254		0.2346	False		,,,				2504	0.4325				p.L1158L		Atlas-SNP	.											.	CDAN1	70	.	0			c.A3474C						PASS	.	G		3640,766	312.5+/-292.6	1518,604,81	69	64	66		3474	3	1	15	dbSNP_123	66	1955,6643	724.7+/-406.5	240,1475,2584	no	coding-synonymous	CDAN1	NM_138477.2		1758,2079,2665	GG,GT,TT		22.7378,17.3854,43.0252		1158/1228	43017426	5595,7409	2203	4299	6502	SO:0001819	synonymous_variant	146059	exon27			CTCCCGTAGCAAG	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.3474A>C	15.37:g.43017426T>G		Somatic	217	2	0.00921659		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	CCDS32209.1																																																																																			T|0.565;G|0.435	0.435	strong		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		G	43017426	T	G	43017426	2	3	22	1	0	0	0	0	0	0	0	1	3054	1625	57	5		5	CDAN1	15	43017426	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	196837	43017426	59513966	7688	12796										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43020983	43020983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagtgactctgcctggcGcaccagatctgccaccagtg	12	13	2	3	rs8023524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43020983G>A	ENST00000356231.3	-	20	2694	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	891			R -> C (in dbSNP:rs8023524).		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)		TCTGCCTGGCGCACCAGATCT	0.567													G|||	1317	0.262979	0.4924	0.1282	5008	,	,		16633	0.0496		0.1859	False		,,,				2504	0.3476				p.R891C		Atlas-SNP	.											.	CDAN1	70	.	0			c.C2671T						PASS	.	G	CYS/ARG	1886,2520	539.6+/-375.3	396,1094,713	59	47	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2671	3.8	1	15	dbSNP_116	51	1620,6978	299.4+/-304.4	158,1304,2837	yes	missense	CDAN1	NM_138477.2	180	554,2398,3550	AA,AG,GG		18.8416,42.8053,26.9609	probably-damaging	891/1228	43020983	3506,9498	2203	4299	6502	SO:0001583	missense	146059	exon20			CCTGGCGCACCAG	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.2671C>T	15.37:g.43020983G>A	ENSP00000348564:p.Arg891Cys	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	187	87	0.465241	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	461	0.21108058608058608	219	0.4451219512195122	50	0.13812154696132597	37	0.06468531468531469	155	0.20448548812664907	G	18.56	3.650453	0.67472	0.428053	0.188416	ENSG00000140326	ENST00000356231;ENST00000267892	T	0.77877	-1.13	5.77	3.79	0.43588	.	0.789671	0.12571	N	0.457342	T	0.00012	0.0000	L	0.44542	1.39	0.29758	P	0.835791	D;D	0.63880	0.987;0.993	B;P	0.45712	0.409;0.491	T	0.31251	-0.9950	9	0.56958	D	0.05	-0.5786	8.3908	0.32526	0.0729:0.0:0.6087:0.3184	rs8023524;rs52797272;rs8023524	891;889	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	C	891;889	ENSP00000348564:R891C	ENSP00000267892:R889C	R	-	1	0	CDAN1	40808275	0.697000	0.27767	0.961000	0.40146	0.994000	0.84299	0.862000	0.27899	1.447000	0.47661	0.561000	0.74099	CGC	G|0.749;A|0.251	0.251	strong		0.567	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		A	43020983	G	A	43020983	3	1	22	1	0	0	0	0	1	0	0	0	3054	1087	38	1	1048	1	CDAN1	15	43020983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3557	43020983	59510409	7689	12797										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43023482	43023482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcaagaccattgagctccTggatcttcaagctcagactg	11	11	3	3	rs12917189	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43023482T>C	ENST00000356231.3	-	12	1810	c.1787A>G	c.(1786-1788)cAg>cGg	p.Q596R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	596			Q -> R (in dbSNP:rs12917189).		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)		ATTGAGCTCCTGGATCTTCAA	0.517													C|||	2272	0.453674	0.9531	0.1729	5008	,	,		18714	0.2589		0.2068	False		,,,				2504	0.4325				p.Q596R		Atlas-SNP	.											.	CDAN1	70	.	0			c.A1787G						PASS	.	C	ARG/GLN	3608,798	320.7+/-296.8	1488,632,83	94	93	93	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1787	4.1	1	15	dbSNP_121	93	1805,6793	732.8+/-406.9	203,1399,2697	yes	missense	CDAN1	NM_138477.2	43	1691,2031,2780	CC,CT,TT		20.9933,18.1117,41.6257	benign	596/1228	43023482	5413,7591	2203	4299	6502	SO:0001583	missense	146059	exon12			AGCTCCTGGATCT	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.1787A>G	15.37:g.43023482T>C	ENSP00000348564:p.Gln596Arg	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	218	217	0.995413	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	844	0.38644688644688646	465	0.9451219512195121	65	0.17955801104972377	144	0.2517482517482518	170	0.22427440633245382	C	5.952	0.359651	0.11239	0.818883	0.209933	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86297	-2.1	5.92	4.05	0.47172	.	0.271850	0.36815	N	0.002396	T	0.00012	0.0000	N	0.01003	-1.06	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	9	0.06365	T	0.9	-10.1082	4.6587	0.12632	0.1737:0.5317:0.0:0.2946	rs12917189;rs52826213;rs61456383;rs12917189	596	Q8IWY9	CDAN1_HUMAN	R	596;594	ENSP00000348564:Q596R	ENSP00000267892:Q594R	Q	-	2	0	CDAN1	40810774	0.988000	0.35896	0.992000	0.48379	0.979000	0.70002	2.077000	0.41557	0.421000	0.25980	-0.119000	0.15052	CAG	C|0.419;N|0.000	0.419	strong		0.517	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		C	43023482	T	C	43023482	3	2	22	1	0	0	0	0	1	0	0	0	3054	1580	55	3	1964	3	CDAN1	15	43023482	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2499	43023482	59507910	7690	12798										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43028207	43028207	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgggggtgaggtgaagcaGgtcttgggcttggagagtga	20	3	1	4	rs143391538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43028207G>C	ENST00000356231.3	-	3	662	c.639C>G	c.(637-639)acC>acG	p.T213T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	213					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)		AGGTGAAGCAGGTCTTGGGCT	0.592													G|||	10	0.00199681	0.0076	0.0	5008	,	,		16376	0.0		0.0	False		,,,				2504	0.0				p.T213T		Atlas-SNP	.											.	CDAN1	70	.	0			c.C639G						PASS	.	G		15,4391	22.3+/-47.3	0,15,2188	107	124	118		639	-0.6	1	15	dbSNP_134	118	0,8598		0,0,4299	no	coding-synonymous	CDAN1	NM_138477.2		0,15,6487	CC,CG,GG		0.0,0.3404,0.1153		213/1228	43028207	15,12989	2203	4299	6502	SO:0001819	synonymous_variant	146059	exon3			GAAGCAGGTCTTG	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.639C>G	15.37:g.43028207G>C		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	166	83	0.5	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	CCDS32209.1																																																																																			G|0.998;C|0.002	0.002	strong		0.592	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		C	43028207	G	C	43028207	2	2	22	1	0	0	0	0	0	0	0	1	3054	987	35	4		4	CDAN1	15	43028207	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4725	43028207	59503185	7691	12799										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43028592	43028592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtgaggctggggcggctGgggctgccagagcccctaag	19	11	0	2	rs7167392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43028592G>A	ENST00000356231.3	-	2	500	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	159					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)		TGGGGCGGCTGGGGCTGCCAG	0.736													G|||	1305	0.260583	0.4365	0.1427	5008	,	,		10276	0.0546		0.2227	False		,,,				2504	0.3579				p.P159P		Atlas-SNP	.											.	CDAN1	70	.	0			c.C477T						PASS	.	G		1658,2690		315,1028,831	16	19	18		477	-2.9	0.3	15	dbSNP_116	18	1804,6730		201,1402,2664	no	coding-synonymous	CDAN1	NM_138477.2		516,2430,3495	AA,AG,GG		21.139,38.1325,26.8747		159/1228	43028592	3462,9420	2174	4267	6441	SO:0001819	synonymous_variant	146059	exon2			GCGGCTGGGGCTG	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.477C>T	15.37:g.43028592G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	CCDS32209.1																																																																																			G|0.766;A|0.234	0.234	strong		0.736	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		A	43028592	G	A	43028592	2	1	22	1	0	0	0	0	0	0	0	1	3054	1335	47	2		2	CDAN1	15	43028592	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	385	43028592	59502800	7692	12800										
TTBK2	146057	hgsc.bcm.edu	37	chr15	43170793	43170793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccaacactcaggatatccAgctgctctcctcccccactc	4	19	2	0	rs6493068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43170793A>G	ENST00000267890.6	-	2	131	c.23T>C	c.(22-24)cTg>cCg	p.L8P	TTBK2_ENST00000567485.1_5'UTR|TTBK2_ENST00000567840.1_Missense_Mutation_p.L8P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L8P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	8			L -> P (in dbSNP:rs6493068). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19533200}.		cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAGGATATCCAGCTGCTCTCC	0.458													G|||	2578	0.514776	0.9592	0.2867	5008	,	,		15499	0.4157		0.2803	False		,,,				2504	0.4192				p.L8P		Atlas-SNP	.											.	TTBK2	82	.	0			c.T23C						PASS	.	G	PRO/LEU	3271,759		1343,585,87	159	179	173		23	5.3	0.9	15	dbSNP_116	173	2534,5802		356,1822,1990	yes	missense	TTBK2	NM_173500.3	98	1699,2407,2077	GG,GA,AA		30.3983,18.8337,46.9432	benign	8/1245	43170793	5805,6561	2015	4168	6183	SO:0001583	missense	146057	exon2			ATATCCAGCTGCT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.23T>C	15.37:g.43170793A>G	ENSP00000267890:p.Leu8Pro	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	144	142	0.986111	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	1047	0.4793956043956044	465	0.9451219512195121	118	0.3259668508287293	242	0.4230769230769231	222	0.2928759894459103	G	14.23	2.474363	0.43942	0.811663	0.303983	ENSG00000128881	ENST00000267890	T	0.37235	1.21	5.29	5.29	0.74685	.	.	.	.	.	T	0.00012	0.0000	N	0.05124	-0.11	0.22330	P	0.999196997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27157	-1.0082	8	0.25106	T	0.35	.	14.2099	0.65756	0.0722:0.0:0.9278:0.0	rs6493068;rs52823398;rs6493068	8;8	Q6IQ55-3;Q6IQ55	.;TTBK2_HUMAN	P	8	ENSP00000267890:L8P	ENSP00000267890:L8P	L	-	2	0	TTBK2	40958085	1.000000	0.71417	0.892000	0.35008	0.883000	0.51084	5.237000	0.65360	1.242000	0.43836	-0.124000	0.14976	CTG	A|0.525;G|0.475	0.475	strong		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		G	43170793	A	G	43170793	3	3	22	1	0	0	0	0	1	0	0	0	16674	188	7	3	3767	3	TTBK2	15	43170793	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	142201	43170793	59360599	7693	12801										
UBR1	197131	hgsc.bcm.edu	37	chr15	43237572	43237572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataacatctgattagtctcTtggctcctagcaatctcttc	5	11	3	1	rs16957277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43237572T>C	ENST00000290650.4	-	47	5283	c.5205A>G	c.(5203-5205)caA>caG	p.Q1735Q	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1735					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATTAGTCTCTTGGCTCCTAG	0.453													T|||	452	0.0902556	0.1702	0.0403	5008	,	,		18833	0.0526		0.0497	False		,,,				2504	0.0982				p.Q1735Q		Atlas-SNP	.											.	UBR1	124	.	0			c.A5205G						PASS	.	T		536,3870	241.5+/-251.9	31,474,1698	139	125	130		5205	1.2	1	15	dbSNP_123	130	299,8299	109.8+/-170.3	6,287,4006	no	coding-synonymous	UBR1	NM_174916.2		37,761,5704	CC,CT,TT		3.4776,12.1652,6.4211		1735/1750	43237572	835,12169	2203	4299	6502	SO:0001819	synonymous_variant	197131	exon47			AGTCTCTTGGCTC		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.5205A>G	15.37:g.43237572T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	173	96	0.554913	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	CCDS10091.1																																																																																			T|0.928;C|0.072	0.072	strong		0.453	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43237572	T	C	43237572	2	2	22	1	0	0	0	0	0	0	0	1	16898	1606	56	3		3	UBR1	15	43237572	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66779	43237572	59293820	7694	12802										
LCMT2	9836	hgsc.bcm.edu	37	chr15	43621947	43621947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgcctccacgtcaggaaaAcgctccaggccatgcagggg	13	14	1	0	rs3742969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43621947A>G	ENST00000305641.5	-	1	856	c.741T>C	c.(739-741)cgT>cgC	p.R247R	LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	247					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGTCAGGAAAACGCTCCAGGC	0.572													G|||	1983	0.395966	0.7322	0.2291	5008	,	,		17524	0.4683		0.1262	False		,,,				2504	0.2628				p.R247R		Atlas-SNP	.											.	LCMT2	48	.	0			c.T741C						PASS	.	G		2646,1756	502.0+/-365.1	803,1040,358	38	41	40		741	2.5	0.6	15	dbSNP_107	40	1093,7505	748.1+/-407.3	78,937,3284	no	coding-synonymous	LCMT2	NM_014793.4		881,1977,3642	GG,GA,AA		12.7123,39.891,28.7615		247/687	43621947	3739,9261	2201	4299	6500	SO:0001819	synonymous_variant	9836	exon1			AGGAAAACGCTCC	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.741T>C	15.37:g.43621947A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	33	13	0.393939	NM_014793	Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	CCDS10094.1																																																																																			A|0.668;G|0.332	0.332	strong		0.572	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		G	43621947	A	G	43621947	2	3	22	1	0	0	0	0	0	0	0	1	8679	30	2	2		2	LCMT2	15	43621947	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	384375	43621947	58909445	7695	12803										
ZSCAN29	146050	hgsc.bcm.edu	37	chr15	43658416	43658418	+	In_Frame_Del	DEL	CCT	CCT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacagcctcttctgctcCctcctcatgctgccagcccc					rs377169169|rs151154169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43658416_43658418delCCT	ENST00000396976.2	-	3	1246_1248	c.1112_1114delAGG	c.(1111-1116)gaggga>gga	p.E371del	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_In_Frame_Del_p.E370del|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	371					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTCTGCTCCCTCCTCATGCTG	0.601														118	0.0235623	0.0855	0.0058	5008	,	,		18099	0.0		0.001	False		,,,				2504	0.0				p.371_372del		Pindel,Atlas-Indel	.											.	ZSCAN29	57	.	0			c.1113_1115del						PASS	.			330,3934		28,274,1830						-9	0		dbSNP_119	68	3,8251		0,3,4124	no	coding	ZSCAN29	NM_152455.3		28,277,5954	A1A1,A1R,RR		0.0363,7.7392,2.6602				333,12185				SO:0001651	inframe_deletion	146050	exon3			.	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1112_1114delAGG	15.37:g.43658419_43658421delCCT	ENSP00000380174:p.Glu371del	Somatic	61	.	.		WXS	Illumina HiSeq	Phase_I	74	25	0.338	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	In_Frame_Del	DEL	ENST00000396976.2	37	CCDS10095.2																																																																																			CCT|0.977;-|0.023	0.023	strong		0.601	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		-	43658418	CCT	-	43658416	7	5	22	1	0	1	0	1	0	0	0	0	18233	632	22	0	1456	0	ZSCAN29	15	43658416	In_Frame_Del	DEL	CCT	TCGA-G8-6324-01A-11D-2210-10	36469	43658416	58872976	7696	12804										
TP53BP1	7158	hgsc.bcm.edu	37	chr15	43762196	43762196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctaactccactggttcacCactttgaagtttcttctgaa	5	11	4	2	rs689647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43762196C>T	ENST00000263801.3	-	11	1486	c.1234G>A	c.(1234-1236)Ggt>Agt	p.G412S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G417S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G417S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G417S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	412			G -> S (in dbSNP:rs689647). {ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.		cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGGTTCACCACTTTGAAGT	0.458								Other conserved DNA damage response genes					C|||	1915	0.382388	0.7511	0.2205	5008	,	,		16848	0.3869		0.1093	False		,,,				2504	0.2751				p.G417S		Atlas-SNP	.											.	TP53BP1	157	.	0			c.G1249A						PASS	.	C	SER/GLY,SER/GLY,SER/GLY	2774,1628	659.9+/-400.6	882,1010,309	158	151	153		1249,1249,1234	5.3	0.5	15	dbSNP_83	153	971,7625	211.3+/-251.9	59,853,3386	yes	missense,missense,missense	TP53BP1	NM_001141979.1,NM_001141980.1,NM_005657.2	56,56,56	941,1863,3695	TT,TC,CC		11.296,36.9832,28.8121	benign,benign,benign	417/1976,417/1978,412/1973	43762196	3745,9253	2201	4298	6499	SO:0001583	missense	7158	exon11			GTTCACCACTTTG	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1234G>A	15.37:g.43762196C>T	ENSP00000263801:p.Gly412Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	771	0.35302197802197804	361	0.733739837398374	79	0.21823204419889503	255	0.4458041958041958	76	0.10026385224274406	C	12.26	1.883283	0.33255	0.630168	0.11296	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09163	3.83;3.83;3.82;3.83;3.01	5.31	5.31	0.75309	.	0.144833	0.43110	D	0.000615	T	0.00012	0.0000	N	0.08118	0	0.52099	P	5.699999999997374E-5	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	0.14924	-1.0455	9	0.13470	T	0.59	-6.2677	15.7083	0.77602	0.0:1.0:0.0:0.0	rs689647;rs52823918;rs57881989;rs689647	417;412;417;417	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	412;417;417;417;417	ENSP00000263801:G412S;ENSP00000371475:G417S;ENSP00000371470:G417S;ENSP00000393497:G417S;ENSP00000388028:G417S	ENSP00000263801:G412S	G	-	1	0	TP53BP1	41549488	0.003000	0.15002	0.530000	0.27963	0.130000	0.20726	1.139000	0.31504	2.479000	0.83701	0.563000	0.77884	GGT	C|0.671;N|0.000	.	strong		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			T	43762196	C	T	43762196	3	4	22	1	0	0	0	0	1	0	0	0	16380	594	21	2	4756	2	TP53BP1	15	43762196	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	103780	43762196	58769196	7697	12805										
MAP1A	4130	hgsc.bcm.edu	37	chr15	43818052	43818052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaagccttagaacaaaagGatacagccctggaacagaag	9	9	0	2	rs2245715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43818052G>A	ENST00000300231.5	+	4	4831	c.4381G>A	c.(4381-4383)Gat>Aat	p.D1461N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D1699N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D1461N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1461			D -> N (in dbSNP:rs2245715).		microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAACAAAAGGATACAGCCCT	0.448													G|||	1837	0.366813	0.6831	0.2147	5008	,	,		20781	0.4167		0.1044	False		,,,				2504	0.2658				p.D1461N		Atlas-SNP	.											.	MAP1A	189	.	0			c.G4381A						PASS	.	G	ASN/ASP	2194,1530		656,882,324	81	82	82		4381	3	0.1	15	dbSNP_100	82	839,7353		48,743,3305	yes	missense	MAP1A	NM_002373.5	23	704,1625,3629	AA,AG,GG		10.2417,41.0849,25.4532	possibly-damaging	1461/2804	43818052	3033,8883	1862	4096	5958	SO:0001583	missense	4130	exon4			CAAAAGGATACAG	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4381G>A	15.37:g.43818052G>A	ENSP00000300231:p.Asp1461Asn	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	747	0.34203296703296704	329	0.6686991869918699	76	0.20994475138121546	270	0.47202797202797203	72	0.09498680738786279	G	14.00	2.405007	0.42613	0.589151	0.102417	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.21543	2.31;2.0;2.0	3.98	3.02	0.34903	.	.	.	.	.	T	0.00012	0.0000	L	0.49126	1.545	0.80722	P	0.0	B	0.26195	0.144	B	0.33042	0.157	T	0.21143	-1.0254	8	0.37606	T	0.19	-0.0114	13.2141	0.59849	0.0:0.1619:0.8381:0.0	rs2245715;rs60336985;rs2245715	1461	P78559	MAP1A_HUMAN	N	1699;1461;1461	ENSP00000371462:D1699N;ENSP00000382380:D1461N;ENSP00000300231:D1461N	ENSP00000300231:D1461N	D	+	1	0	MAP1A	41605344	0.004000	0.15560	0.077000	0.20336	0.498000	0.33706	1.414000	0.34736	0.947000	0.37659	0.563000	0.77884	GAT	G|0.669;A|0.331	0.331	strong		0.448	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43818052	G	A	43818052	3	1	22	1	0	0	0	0	1	0	0	0	9227	1174	41	2	4383	2	MAP1A	15	43818052	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55856	43818052	58713340	7698	12806										
STRC	161497	hgsc.bcm.edu	37	chr15	43892847	43892847	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgttcctcagagcactgGagatgcagggtgccgaggaa	15	8	1	2	rs12438025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43892847G>C	ENST00000450892.2	-	26	4955	c.4878C>G	c.(4876-4878)ctC>ctG	p.L1626L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L853L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1626					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGAGCACTGGAGATGCAGGG	0.532													G|||	1475	0.294529	0.556	0.2032	5008	,	,		20056	0.2718		0.0994	False		,,,				2504	0.2301				p.L1626L		Atlas-SNP	.											STRC_ENST00000450892,colon,carcinoma,0,1	STRC	58	1	0			c.C4878G						PASS	.	G		2041,2359	541.9+/-375.9	485,1071,644	55	64	61		4878	2.9	1	15	dbSNP_120	61	846,7748	189.1+/-236.0	50,746,3501	no	coding-synonymous	STRC	NM_153700.2		535,1817,4145	CC,CG,GG		9.8441,46.3864,22.2179		1626/1776	43892847	2887,10107	2200	4297	6497	SO:0001819	synonymous_variant	161497	exon26			GCACTGGAGATGC	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4878C>G	15.37:g.43892847G>C		Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	280	121	0.432143	NM_153700		Silent	SNP	ENST00000450892.2	37	CCDS10098.1																																																																																			G|0.784;C|0.216	0.216	strong		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		C	43892847	G	C	43892847	2	2	22	1	0	0	0	0	0	0	0	1	15327	1161	41	4		4	STRC	15	43892847	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	74795	43892847	58638545	7699	12807										
STRC	161497	hgsc.bcm.edu	37	chr15	43893072	43893072	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccttcacaaatgacctGaactcccaactgctgatgtg	7	14	1	3	rs3097773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43893072G>A	ENST00000450892.2	-	25	4919	c.4842C>T	c.(4840-4842)ttC>ttT	p.F1614F	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.F841F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1614					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAAATGACCTGAACTCCCAAC	0.552													A|||	1982	0.395767	0.7943	0.2291	5008	,	,		18022	0.4216		0.1064	False		,,,				2504	0.2464				p.F1614F		Atlas-SNP	.											.	STRC	58	.	0			c.C4842T						PASS	.	A		2942,1458	442.0+/-346.6	1020,902,278	75	97	89		4842	2.1	1	15	dbSNP_103	89	865,7729	769.3+/-407.6	55,755,3487	no	coding-synonymous	STRC	NM_153700.2		1075,1657,3765	AA,AG,GG		10.0652,33.1364,29.2981		1614/1776	43893072	3807,9187	2200	4297	6497	SO:0001819	synonymous_variant	161497	exon25			TGACCTGAACTCC	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4842C>T	15.37:g.43893072G>A		Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	336	128	0.380952	NM_153700		Silent	SNP	ENST00000450892.2	37	CCDS10098.1																																																																																			.	.	weak		0.552	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		A	43893072	G	A	43893072	2	1	22	1	0	0	0	0	0	0	0	1	15327	1281	45	2		2	STRC	15	43893072	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	225	43893072	58638320	7700	12808										
STRC	161497	hgsc.bcm.edu	37	chr15	43897499	43897499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgccagggctgcctggTggaggggggtcagtgccagc	18	11	2	0	rs2920780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:43897499T>C	ENST00000450892.2	-	19	3970	c.3893A>G	c.(3892-3894)cAc>cGc	p.H1298R	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.H525R	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1298					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGCTGCCTGGTGGAGGGGGGT	0.542													T|||	1457	0.290935	0.5446	0.2003	5008	,	,		18193	0.2728		0.1014	False		,,,				2504	0.226				p.H1298R		Atlas-SNP	.											.	STRC	58	.	0			c.A3893G						PASS	.	T	ARG/HIS	1981,2409		455,1071,669	15	14	14		3893	2.9	1	15	dbSNP_101	14	836,7712		49,738,3487	no	missense	STRC	NM_153700.2	29	504,1809,4156	CC,CT,TT		9.7801,45.1253,21.7731	benign	1298/1776	43897499	2817,10121	2195	4274	6469	SO:0001583	missense	161497	exon19			GCCTGGTGGAGGG	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3893A>G	15.37:g.43897499T>C	ENSP00000401513:p.His1298Arg	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	358	128	0.357542	NM_153700		Missense_Mutation	SNP	ENST00000450892.2	37	CCDS10098.1	590	0.27014652014652013	266	0.540650406504065	74	0.20441988950276244	180	0.3146853146853147	70	0.09234828496042216	T	12.77	2.038989	0.35989	0.451253	0.097801	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.76186	-1.0;-1.0	5.46	2.86	0.33363	.	0.509337	0.18353	N	0.143832	T	0.00012	0.0000	N	0.12182	0.205	0.34793	P	0.26405100000000004	B;B	0.18310	0.027;0.0	B;B	0.11329	0.006;0.002	T	0.45101	-0.9284	9	0.12766	T	0.61	-5.1913	6.9989	0.24799	0.0:0.23:0.0:0.77	rs2920780;rs58216659	525;1298	F5GXA4;Q7RTU9	.;STRC_HUMAN	R	1298;1298;525	ENSP00000401513:H1298R;ENSP00000440413:H525R	ENSP00000299992:H1298R	H	-	2	0	STRC	41684791	1.000000	0.71417	0.982000	0.44146	0.621000	0.37620	1.762000	0.38451	1.024000	0.39682	0.454000	0.30748	CAC	.	.	weak		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		C	43897499	T	C	43897499	3	2	22	1	0	0	0	0	1	0	0	0	15327	1696	59	2	1478	2	STRC	15	43897499	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4427	43897499	58633893	7701	12809										
C15orf43	145645	hgsc.bcm.edu	37	chr15	45250685	45250685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctttgggtcatttcatTcttcctcctgcgtgcctgca	10	12	3	0	rs147135555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45250685T>G	ENST00000340827.3	+	3	278	c.261T>G	c.(259-261)atT>atG	p.I87M		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	87										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTCATTTCATTCTTCCTCCTG	0.408													T|||	18	0.00359425	0.0136	0.0	5008	,	,		18466	0.0		0.0	False		,,,				2504	0.0				p.I87M		Atlas-SNP	.											.	C15orf43	19	.	0			c.T261G						PASS	.	T	MET/ILE	52,4344	52.3+/-87.9	1,50,2147	79	74	75		261	-2.2	1	15	dbSNP_134	75	0,8596		0,0,4298	yes	missense	C15orf43	NM_152448.1	10	1,50,6445	GG,GT,TT		0.0,1.1829,0.4002	benign	87/221	45250685	52,12940	2198	4298	6496	SO:0001583	missense	145645	exon3			TTTCATTCTTCCT	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.261T>G	15.37:g.45250685T>G	ENSP00000340644:p.Ile87Met	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	132	63	0.477273	NM_152448		Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	t	12.26	1.883358	0.33255	0.011829	0.0	ENSG00000167014	ENST00000340827	T	0.55234	0.53	4.45	-2.18	0.07037	.	0.349419	0.23496	N	0.047553	T	0.21881	0.0527	N	0.19112	0.55	0.22185	N	0.999309	B	0.15141	0.012	B	0.13407	0.009	T	0.08513	-1.0718	10	0.52906	T	0.07	.	5.0719	0.14611	0.0:0.4003:0.1728:0.4268	.	87	Q8NHR7	CO043_HUMAN	M	87	ENSP00000340644:I87M	ENSP00000340644:I87M	I	+	3	3	C15orf43	43037977	0.971000	0.33674	0.971000	0.41717	0.977000	0.68977	0.016000	0.13377	-0.254000	0.09500	0.523000	0.50628	ATT	T|0.997;G|0.003	0.003	strong		0.408	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		G	45250685	T	G	45250685	3	3	22	1	0	0	0	0	1	0	0	0	1797	1771	62	5	271	5	C15orf43	15	45250685	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1353186	45250685	57280707	7702	12810										
C15orf43	145645	hgsc.bcm.edu	37	chr15	45253735	45253735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagaaataagaagaaaaAttggtagttttatttgggaa	9	3	0	3	rs77033860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45253735A>T	ENST00000340827.3	+	4	318	c.301A>T	c.(301-303)Att>Ttt	p.I101F	RNU6-1332P_ENST00000516666.1_RNA	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	101										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAGAAGAAAAATTGGTAGTTT	0.289																																					p.I101F		Atlas-SNP	.											C15orf43,NS,haematopoietic_neoplasm,0,2	C15orf43	19	2	0			c.A301T						scavenged	.						63	60	61					15																	45253735		2198	4293	6491	SO:0001583	missense	145645	exon4			AGAAAAATTGGTA	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.301A>T	15.37:g.45253735A>T	ENSP00000340644:p.Ile101Phe	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	184	10	0.0543478	NM_152448		Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274786	0.40194	.	.	ENSG00000167014	ENST00000340827	T	0.49139	0.79	4.4	3.26	0.37387	.	0.243069	0.31909	N	0.006868	T	0.35008	0.0917	L	0.29908	0.895	0.37417	D	0.913478	P	0.35383	0.498	B	0.37943	0.261	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.141	0.31082	0.7769:0.2231:0.0:0.0	.	101	Q8NHR7	CO043_HUMAN	F	101	ENSP00000340644:I101F	ENSP00000340644:I101F	I	+	1	0	C15orf43	43041027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	0.650000	0.30769	0.448000	0.29417	ATT	A|0.989;T|0.011	0.011	strong		0.289	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		T	45253735	A	T	45253735	3	4	22	1	0	0	0	0	1	0	0	0	1797	101	4	5	315	5	C15orf43	15	45253735	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3050	45253735	57277657	7703	12811										
SORD	6652	hgsc.bcm.edu	37	chr15	45361180	45361180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccaggaaagtagaaggtcAgctggggtgcaagccggaag	17	8	1	1	rs55739437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45361180A>T	ENST00000267814.9	+	7	896	c.716A>T	c.(715-717)cAg>cTg	p.Q239L	SORD_ENST00000558580.1_Missense_Mutation_p.Q218L	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	239			Q -> L (in dbSNP:rs55739437). {ECO:0000269|PubMed:7782086}.		fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		GTAGAAGGTCAGCTGGGGTGC	0.582													.|||	1678	0.335064	0.6664	0.2867	5008	,	,		12388	0.2202		0.1799	False		,,,				2504	0.1994				p.Q239L		Atlas-SNP	.											.	SORD	24	.	0			c.A716T						PASS	.	T	LEU/GLN	2459,1937		652,1155,391	33	38	36		716	4.7	0.1	15	dbSNP_129	36	1338,7258		46,1246,3006	yes	missense	SORD	NM_003104.5	113	698,2401,3397	TT,TA,AA		15.5654,44.0628,29.2257	benign	239/358	45361180	3797,9195	2198	4298	6496	SO:0001583	missense	6652	exon7			AAGGTCAGCTGGG		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.716A>T	15.37:g.45361180A>T	ENSP00000267814:p.Gln239Leu	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	307	305	0.993485	NM_003104	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	503	0.2303113553113553	287	0.5833333333333334	70	0.19337016574585636	64	0.11188811188811189	82	0.10817941952506596	T	7.574	0.667425	0.14710	0.559372	0.155654	ENSG00000140263	ENST00000267814	T	0.04234	3.67	4.74	4.74	0.60224	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.335846	0.28459	N	0.015261	T	0.00012	0.0000	N	0.00670	-1.27	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	9	0.21014	T	0.42	-13.1845	10.1157	0.42589	0.1501:0.0:0.0:0.8499	rs55739437;rs62621228	160;239	B4DKI2;Q00796	.;DHSO_HUMAN	L	239	ENSP00000267814:Q239L	ENSP00000267814:Q239L	Q	+	2	0	SORD	43148472	0.996000	0.38824	0.078000	0.20375	0.622000	0.37654	2.525000	0.45598	0.669000	0.31146	-0.527000	0.04329	CAG	A|0.734;T|0.266	0.266	strong		0.582	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			T	45361180	A	T	45361180	3	4	22	1	0	0	0	0	1	0	0	0	14933	188	7	5	742	5	SORD	15	45361180	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	107445	45361180	57170212	7704	12812										
SORD	6652	hgsc.bcm.edu	37	chr15	45365724	45365724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccccagtgaccagaatcCctgatgttaatgggctctgc	10	12	1	4	rs76283634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45365724C>T	ENST00000267814.9	+	9	1250	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L	SORD_ENST00000558580.1_Missense_Mutation_p.P336L|RP11-109D20.2_ENST00000560967.1_RNA|SORD_ENST00000559562.1_3'UTR	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	357					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		GACCAGAATCCCTGATGTTAA	0.488																																					p.P357L		Atlas-SNP	.											.	SORD	24	.	0			c.C1070T						PASS	.	C	LEU/PRO	1953,2293		271,1411,441	48	60	56		1070	4.5	1	15	dbSNP_131	56	1439,7157		0,1439,2859	yes	missense	SORD	NM_003104.5	98	271,2850,3300	TT,TC,CC		16.7403,45.9962,26.4133	probably-damaging	357/358	45365724	3392,9450	2123	4298	6421	SO:0001583	missense	6652	exon9			AGAATCCCTGATG		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.1070C>T	15.37:g.45365724C>T	ENSP00000267814:p.Pro357Leu	Somatic	563	2	0.0035524		WXS	Illumina HiSeq	Phase_I	547	198	0.361974	NM_003104	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	651	0.2980769230769231	302	0.6138211382113821	90	0.24861878453038674	109	0.19055944055944055	150	0.19788918205804748	C	22.0	4.229049	0.79688	0.459962	0.167403	ENSG00000140263	ENST00000267814	T	0.02050	4.48	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	N	0.22421	0.69	0.09310	P	0.99999999988807	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06862	-1.0803	9	0.87932	D	0	-5.8678	13.1766	0.59630	0.0:0.9229:0.0:0.0771	rs2412946;rs2467833	278;357	B4DKI2;Q00796	.;DHSO_HUMAN	L	357	ENSP00000267814:P357L	ENSP00000267814:P357L	P	+	2	0	SORD	43153016	1.000000	0.71417	0.955000	0.39395	0.796000	0.44982	4.587000	0.60991	1.305000	0.44909	0.563000	0.77884	CCC	C|0.918;T|0.082	0.082	strong		0.488	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			T	45365724	C	T	45365724	3	4	22	1	0	0	0	0	1	0	0	0	14933	623	22	2	1104	2	SORD	15	45365724	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4544	45365724	57165668	7705	12813										
DUOX2	50506	hgsc.bcm.edu	37	chr15	45392382	45392382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagcctcgctgcatcttcTcttgcagcgcctctgtgtac	10	14	3	0	rs79393107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45392382T>C	ENST00000603300.1	-	24	3252	c.3050A>G	c.(3049-3051)gAg>gGg	p.E1017G	DUOX2_ENST00000389039.6_Missense_Mutation_p.E1017G	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1017	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCATCTTCTCTTGCAGCGC	0.602													T|||	183	0.0365415	0.1293	0.0173	5008	,	,		20832	0.0		0.0	False		,,,				2504	0.0				p.E1017G		Atlas-SNP	.											.	DUOX2	137	.	0			c.A3050G						PASS	.	T	GLY/GLU	524,3872	240.6+/-251.3	40,444,1714	78	68	72		3050	5.4	1	15	dbSNP_131	72	3,8593	3.0+/-9.4	0,3,4295	yes	missense	DUOX2	NM_014080.4	98	40,447,6009	CC,CT,TT		0.0349,11.9199,4.0563	probably-damaging	1017/1549	45392382	527,12465	2198	4298	6496	SO:0001583	missense	50506	exon24			ATCTTCTCTTGCA	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3050A>G	15.37:g.45392382T>C	ENSP00000475084:p.Glu1017Gly	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	79	31	0.392405	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	58	0.026556776556776556	51	0.10365853658536585	7	0.019337016574585635	0	0.0	0	0.0	T	25.5	4.644005	0.87859	0.119199	3.49E-4	ENSG00000140279	ENST00000389039	.	.	.	5.45	5.45	0.79879	.	0.105054	0.64402	D	0.000003	T	0.02727	0.0082	M	0.76328	2.33	0.58432	D	0.999998	D	0.52996	0.957	P	0.52823	0.71	T	0.06698	-1.0812	9	0.34782	T	0.22	-29.5989	14.7059	0.69189	0.0:0.0:0.0:1.0	.	1017	Q9NRD8	DUOX2_HUMAN	G	1017	.	ENSP00000373691:E1017G	E	-	2	0	DUOX2	43179674	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.726000	0.54977	2.080000	0.62538	0.460000	0.39030	GAG	T|0.960;C|0.040	0.040	strong		0.602	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		C	45392382	T	C	45392382	3	2	22	1	0	0	0	0	1	0	0	0	4801	1551	54	3	1640	3	DUOX2	15	45392382	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26658	45392382	57139010	7706	12814										
DUOX2	50506	hgsc.bcm.edu	37	chr15	45398438	45398438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacacggagcacagtgagaTgcctgttcaggacctgcaga	12	12	1	2	rs57659670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45398438T>C	ENST00000603300.1	-	17	2235	c.2033A>G	c.(2032-2034)cAt>cGt	p.H678R	DUOX2_ENST00000389039.6_Missense_Mutation_p.H678R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	678			H -> R (in dbSNP:rs57659670).		adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAGTGAGATGCCTGTTCAG	0.602													C|||	826	0.164936	0.4198	0.1744	5008	,	,		19240	0.0476		0.0676	False		,,,				2504	0.0348				p.H678R		Atlas-SNP	.											.	DUOX2	137	.	0			c.A2033G	GRCh37	CM085365	DUOX2	M	rs57659670	PASS	.	C	ARG/HIS	1705,2691	649.9+/-399.0	346,1013,839	103	73	83		2033	-0.4	0	15	dbSNP_129	83	647,7949	789.5+/-407.6	31,585,3682	yes	missense	DUOX2	NM_014080.4	29	377,1598,4521	CC,CT,TT		7.5268,38.7853,18.1034	benign	678/1549	45398438	2352,10640	2198	4298	6496	SO:0001583	missense	50506	exon17			GTGAGATGCCTGT	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2033A>G	15.37:g.45398438T>C	ENSP00000475084:p.His678Arg	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	328	0.15018315018315018	199	0.40447154471544716	46	0.1270718232044199	32	0.055944055944055944	51	0.06728232189973615	C	0.070	-1.204245	0.01568	0.387853	0.075268	ENSG00000140279	ENST00000389039	.	.	.	5.31	-0.369	0.12534	.	0.592094	0.17582	N	0.169066	T	0.00012	0.0000	N	0.01109	-1.01	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44314	-0.9336	8	0.02654	T	1	0.0456	10.8392	0.46704	0.0:0.596:0.0:0.404	rs57659670	678;240	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	R	678	.	ENSP00000373691:H678R	H	-	2	0	DUOX2	43185730	0.000000	0.05858	0.007000	0.13788	0.688000	0.40055	-0.073000	0.11468	-0.230000	0.09840	-0.213000	0.12676	CAT	T|0.831;C|0.169	0.169	strong		0.602	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		C	45398438	T	C	45398438	3	2	22	1	0	0	0	0	1	0	0	0	4801	1464	51	2	2685	2	DUOX2	15	45398438	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6056	45398438	57132954	7707	12815										
DUOXA1	405753	hgsc.bcm.edu	37	chr15	45409732	45409732	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagattagaggtgtgtggCgggaggtaacacaaggggta	17	4	1	2	rs61751061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45409732C>G	ENST00000323030.5	+	6	1054				DUOXA1_ENST00000430224.2_Missense_Mutation_p.R433P|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R478P|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R478P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		AGGTGTGTGGCGGGAGGTAAC	0.512													G|||	846	0.16893	0.4297	0.1873	5008	,	,		16774	0.0446		0.0686	False		,,,				2504	0.0348				p.R478P		Atlas-SNP	.											.	DUOXA1	32	.	0			c.G1433C						PASS	.	G	PRO/ARG,	1631,2717		315,1001,858	44	47	46		1433,	-2.6	0	15	dbSNP_129	46	567,7937		34,499,3719	yes	missense,intron	DUOXA1,DUOXA2	NM_144565.2,NM_207581.3	103,	349,1500,4577	GG,GC,CC		6.6675,37.5115,17.1024	possibly-damaging,	478/484,	45409732	2198,10654	2174	4252	6426	SO:0001627	intron_variant	90527	exon11			GTGTGGCGGGAGG	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.770-182C>G	15.37:g.45409732C>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	193	76	0.393782	NM_144565	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	CCDS10118.2	322	0.14743589743589744	196	0.3983739837398374	46	0.1270718232044199	29	0.050699300699300696	51	0.06728232189973615	G	3.775	-0.046821	0.07407	0.375115	0.066675	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.61510	0.52;0.1	1.31	-2.61	0.06171	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32666	-0.9898	8	0.87932	D	0	.	4.9129	0.13831	0.2498:0.3294:0.4207:0.0	rs61751061	433;478	B5M0C0;A8K9Q6	.;.	P	478;433	ENSP00000267803:R478P;ENSP00000415512:R433P	ENSP00000267803:R478P	R	-	2	0	DUOXA1	43197024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.424000	0.07025	-3.110000	0.00242	-4.100000	0.00011	CGC	C|0.819;G|0.181	0.181	strong		0.512	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		G	45409732	C	G	45409732	1	3	22	0	1	0	0	0	0	0	0	0	4802	768	27	4		4	DUOXA1	15	45409732	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11294	45409732	57121660	7708	12816										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45427345	45427345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagcgtggaaactcccggCtgccccgccgagttcctcaa	12	15	1	1	rs78022423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45427345C>T	ENST00000321429.4	+	6	758	c.351C>T	c.(349-351)ggC>ggT	p.G117G	DUOX1_ENST00000389037.3_Silent_p.G117G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	117	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AAACTCCCGGCTGCCCCGCCG	0.647													C|||	111	0.0221645	0.0809	0.0058	5008	,	,		15061	0.0		0.0	False		,,,				2504	0.0				p.G117G		Atlas-SNP	.											.	DUOX1	125	.	0			c.C351T						PASS	.	C	,	295,4099	160.0+/-192.4	11,273,1913	48	48	48		351,351	2.1	1	15	dbSNP_131	48	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	11,273,6211	TT,TC,CC		0.0,6.7137,2.271	,	117/1552,117/1552	45427345	295,12695	2197	4298	6495	SO:0001819	synonymous_variant	53905	exon6			TCCCGGCTGCCCC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.351C>T	15.37:g.45427345C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	206	95	0.461165	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																			C|0.976;T|0.024	0.024	strong		0.647	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		T	45427345	C	T	45427345	2	4	22	1	0	0	0	0	0	0	0	1	4800	784	28	2		2	DUOX1	15	45427345	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17613	45427345	57104047	7709	12817										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45442896	45442896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacatcagccaggatatgaTctggtgagcacccatctggg	11	11	3	2	rs16939743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45442896T>C	ENST00000321429.4	+	23	3292	c.2885T>C	c.(2884-2886)aTc>aCc	p.I962T	DUOX1_ENST00000389037.3_Missense_Mutation_p.I962T|DUOX1_ENST00000561166.1_Missense_Mutation_p.I608T|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	962	Interaction with TXNDC11. {ECO:0000250}.		I -> T (in dbSNP:rs16939743).		cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGATATGATCTGGTGAGCA	0.607													T|||	421	0.0840655	0.1929	0.0216	5008	,	,		19232	0.1359		0.002	False		,,,				2504	0.0123				p.I962T		Atlas-SNP	.											DUOX1,caecum,carcinoma,0,2	DUOX1	125	2	0			c.T2885C						PASS	.	T	THR/ILE,THR/ILE	887,3509	342.8+/-307.3	87,713,1398	47	45	46		2885,2885	4.5	1	15	dbSNP_123	46	7,8589	5.7+/-21.5	0,7,4291	yes	missense,missense	DUOX1	NM_017434.3,NM_175940.1	89,89	87,720,5689	CC,CT,TT		0.0814,20.1774,6.8812	benign,benign	962/1552,962/1552	45442896	894,12098	2198	4298	6496	SO:0001583	missense	53905	exon23			ATATGATCTGGTG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2885T>C	15.37:g.45442896T>C	ENSP00000317997:p.Ile962Thr	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	45	19	0.422222	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	166	0.076007326007326	81	0.16463414634146342	9	0.024861878453038673	75	0.13111888111888112	1	0.0013192612137203166	T	7.582	0.668850	0.14776	0.201774	8.14E-4	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	5.63	4.49	0.54785	.	0.588884	0.17161	N	0.184694	T	0.00210	0.0006	N	0.22421	0.69	0.32591	P	0.527243	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.09292	-1.0681	9	0.13853	T	0.58	-13.4693	10.0575	0.42255	0.0:0.0:0.3267:0.6733	rs16939743;rs61445119;rs16939743	95;962	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	T	962	ENSP00000317997:I962T;ENSP00000373689:I962T	ENSP00000317997:I962T	I	+	2	0	DUOX1	43230188	0.998000	0.40836	0.986000	0.45419	0.333000	0.28666	3.586000	0.53950	0.935000	0.37341	0.459000	0.35465	ATC	T|0.927;C|0.073	0.073	strong		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		C	45442896	T	C	45442896	3	2	22	1	0	0	0	0	1	0	0	0	4800	1435	50	2	2967	2	DUOX1	15	45442896	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15551	45442896	57088496	7710	12818										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45444572	45444572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcacagcagccagcatctcTttcatgttctcctacatctt	6	14	4	0	rs114272662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45444572T>C	ENST00000321429.4	+	26	3689	c.3282T>C	c.(3280-3282)tcT>tcC	p.S1094S	DUOX1_ENST00000389037.3_Silent_p.S1094S|DUOX1_ENST00000561166.1_Silent_p.S740S|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1094	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGCATCTCTTTCATGTTCT	0.602													T|||	137	0.0273562	0.0976	0.0086	5008	,	,		20873	0.0		0.002	False		,,,				2504	0.0				p.S1094S		Atlas-SNP	.											.	DUOX1	125	.	0			c.T3282C						PASS	.	T	,	415,3981	202.1+/-225.0	17,381,1800	212	155	174		3282,3282	2.2	1	15	dbSNP_132	174	7,8589	5.0+/-18.6	0,7,4291	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	17,388,6091	CC,CT,TT		0.0814,9.4404,3.2482	,	1094/1552,1094/1552	45444572	422,12570	2198	4298	6496	SO:0001819	synonymous_variant	53905	exon26			CATCTCTTTCATG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3282T>C	15.37:g.45444572T>C		Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	219	116	0.52968	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																			T|0.968;C|0.032	0.032	strong		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		C	45444572	T	C	45444572	2	2	22	1	0	0	0	0	0	0	0	1	4800	1596	56	3		3	DUOX1	15	45444572	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1676	45444572	57086820	7711	12819										
SLC28A2	9153	hgsc.bcm.edu	37	chr15	45556163	45556163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagcagctgatccccttTgcaggaatctgcatgttcat	9	12	2	2	rs8023604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45556163T>C	ENST00000347644.3	+	6	596	c.531T>C	c.(529-531)ttT>ttC	p.F177F	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	177					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGATCCCCTTTGCAGGAATCT	0.507													C|||	866	0.172923	0.5734	0.0533	5008	,	,		19479	0.0		0.002	False		,,,				2504	0.0706				p.F177F	NSCLC(92;493 1501 26361 28917 47116)	Atlas-SNP	.											.	SLC28A2	64	.	0			c.T531C						PASS	.	C		2273,2123	578.0+/-384.6	611,1051,536	196	159	171		531	-6.4	0.5	15	dbSNP_116	171	13,8583	818.5+/-406.9	0,13,4285	no	coding-synonymous	SLC28A2	NM_004212.3		611,1064,4821	CC,CT,TT		0.1512,48.2939,17.5954		177/659	45556163	2286,10706	2198	4298	6496	SO:0001819	synonymous_variant	9153	exon6			CCCCTTTGCAGGA	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.531T>C	15.37:g.45556163T>C		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	177	82	0.463277	NM_004212	A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	CCDS10121.1																																																																																			T|0.841;C|0.159	0.159	strong		0.507	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		C	45556163	T	C	45556163	2	2	22	1	0	0	0	0	0	0	0	1	14532	1809	63	2		2	SLC28A2	15	45556163	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111591	45556163	56975229	7712	12820										
SPATA5L1	79029	hgsc.bcm.edu	37	chr15	45695612	45695612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcccaggtgttgacgctgCtggacggcgccagtggggac	18	11	0	1	rs1346265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45695612C>T	ENST00000305560.6	+	1	1084	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Silent_p.L329L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	329						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTTGACGCTGCTGGACGGCGC	0.687													C|||	803	0.160343	0.528	0.0476	5008	,	,		14072	0.0079		0.002	False		,,,				2504	0.0634				p.L329L		Atlas-SNP	.											.	SPATA5L1	40	.	0			c.C985T						PASS	.	C		1987,2399		467,1053,673	21	26	24		985	1.4	1	15	dbSNP_88	24	12,8564		0,12,4276	no	coding-synonymous	SPATA5L1	NM_024063.2		467,1065,4949	TT,TC,CC		0.1399,45.3032,15.422		329/754	45695612	1999,10963	2193	4288	6481	SO:0001819	synonymous_variant	79029	exon1			ACGCTGCTGGACG	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.985C>T	15.37:g.45695612C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_024063	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1																																																																																			C|0.860;T|0.140	0.140	strong		0.687	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		T	45695612	C	T	45695612	2	4	22	1	0	0	0	0	0	0	0	1	15011	796	28	2		2	SPATA5L1	15	45695612	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	139449	45695612	56835780	7713	12821										
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45779810	45779810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatacgtatgtacagatgggGtcagcaatcttgtattctgg	11	6	3	1	rs2453531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45779810G>A	ENST00000261867.4	-	6	1229	c.915C>T	c.(913-915)gaC>gaT	p.D305D	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	305					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TACAGATGGGGTCAGCAATCT	0.328													A|||	3810	0.760783	0.9092	0.6095	5008	,	,		17991	0.7034		0.7177	False		,,,				2504	0.771				p.D305D		Atlas-SNP	.											.	SLC30A4	25	.	0			c.C915T						PASS	.	A		3821,575	257.7+/-262.0	1665,491,42	124	134	131		915	2.5	1	15	dbSNP_100	131	6015,2581	418.0+/-352.6	2104,1807,387	no	coding-synonymous	SLC30A4	NM_013309.4		3769,2298,429	AA,AG,GG		30.0256,13.0801,24.2919		305/430	45779810	9836,3156	2198	4298	6496	SO:0001819	synonymous_variant	7782	exon6			GATGGGGTCAGCA		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.915C>T	15.37:g.45779810G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_013309	Q8TC39	Silent	SNP	ENST00000261867.4	37	CCDS10125.1																																																																																			G|0.240;A|0.760	0.760	strong		0.328	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			A	45779810	G	A	45779810	2	1	22	1	0	0	0	0	0	0	0	1	14557	1252	44	2		2	SLC30A4	15	45779810	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84198	45779810	56751582	7714	12822										
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814306	45814306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcagctgactgttggtcaAaggtaagtcttggtccagta	11	8	3	1	rs61756712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:45814306A>G	ENST00000261867.4	-	2	561	c.247T>C	c.(247-249)Ttg>Ctg	p.L83L	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	83	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTGTTGGTCAAAGGTAAGTCT	0.547													A|||	489	0.0976438	0.3427	0.0259	5008	,	,		19317	0.0149		0.002	False		,,,				2504	0.001				p.L83L		Atlas-SNP	.											.	SLC30A4	25	.	0			c.T247C						PASS	.	A		1255,3141	431.6+/-343.0	195,865,1138	159	150	153		247	-5.2	0	15	dbSNP_129	153	11,8585	7.7+/-29.5	0,11,4287	no	coding-synonymous	SLC30A4	NM_013309.4		195,876,5425	GG,GA,AA		0.128,28.5487,9.7445		83/430	45814306	1266,11726	2198	4298	6496	SO:0001819	synonymous_variant	7782	exon2			TGGTCAAAGGTAA		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.247T>C	15.37:g.45814306A>G		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	125	64	0.512	NM_013309	Q8TC39	Silent	SNP	ENST00000261867.4	37	CCDS10125.1																																																																																			A|0.912;G|0.088	0.088	strong		0.547	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			G	45814306	A	G	45814306	2	3	22	1	0	0	0	0	0	0	0	1	14557	11	1	2		2	SLC30A4	15	45814306	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34496	45814306	56717086	7715	12823										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48058071	48058071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcccacaaaataggtgcaGtgctgagaatgaggaagaca	11	7	0	3	rs532598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:48058071G>A	ENST00000316364.5	+	14	1872	c.1433G>A	c.(1432-1434)aGt>aAt	p.S478N	SEMA6D_ENST00000537942.1_Missense_Mutation_p.S478N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S478N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S478N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S478N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S478N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S478N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S478N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S478N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S478N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S478N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	478	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		S -> N (in dbSNP:rs532598).		axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATAGGTGCAGTGCTGAGAAT	0.408													g|||	2332	0.465655	0.5817	0.3617	5008	,	,		20797	0.6032		0.3509	False		,,,				2504	0.3589				p.S478N		Atlas-SNP	.											.	SEMA6D	322	.	0			c.G1433A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	2581,1815	637.1+/-396.7	752,1077,369	155	133	140		1433,1433,1433,1433,1433,1433	-1.9	0.8	15	dbSNP_83	140	2874,5720	451.8+/-362.8	490,1894,1913	yes	missense,missense,missense,missense,missense,missense	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	46,46,46,46,46,46	1242,2971,2282	AA,AG,GG		33.4419,41.2875,41.9938	benign,benign,benign,benign,benign,benign	478/1012,478/1012,478/999,478/1018,478/1074,478/598	48058071	5455,7535	2198	4297	6495	SO:0001583	missense	80031	exon14			GGTGCAGTGCTGA	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1433G>A	15.37:g.48058071G>A	ENSP00000324857:p.Ser478Asn	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	126	52	0.412698	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	1019	0.4665750915750916	270	0.5487804878048781	122	0.3370165745856354	361	0.6311188811188811	266	0.35092348284960423	g	7.087	0.571452	0.13623	0.587125	0.334419	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.18338	2.27;2.28;2.28;2.26;2.26;2.27;2.27;2.28;2.22	5.68	-1.93	0.07594	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.589000	0.18988	N	0.125674	T	0.00012	0.0000	N	0.24115	0.695	0.09310	P	1.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.0	T	0.35126	-0.9801	9	0.22109	T	0.4	.	7.2106	0.25931	0.5129:0.1163:0.3707:0.0	rs532598;rs52797909;rs56494183;rs57496672;rs532598	478;478;478;478;478	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	478	ENSP00000442040:S478N;ENSP00000446152:S478N;ENSP00000324857:S478N;ENSP00000374084:S478N;ENSP00000374083:S478N;ENSP00000346786:S478N;ENSP00000350770:S478N;ENSP00000374079:S478N;ENSP00000348276:S478N	ENSP00000324857:S478N	S	+	2	0	SEMA6D	45845363	0.967000	0.33354	0.756000	0.31282	0.895000	0.52256	0.315000	0.19451	-0.278000	0.09180	-1.154000	0.01816	AGT	G|0.549;N|0.000	.	strong		0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48058071	G	A	48058071	3	1	22	1	0	0	0	0	1	0	0	0	14042	1029	36	2	1487	2	SEMA6D	15	48058071	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2243765	48058071	54473321	7716	12824										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48063076	48063076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagttggctgctcttccTactcctgagtctacacccgt	8	15	2	2	rs568215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:48063076T>C	ENST00000316364.5	+	19	2755	c.2316T>C	c.(2314-2316)ccT>ccC	p.P772P	SEMA6D_ENST00000537942.1_Silent_p.P710P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Silent_p.P697P|SEMA6D_ENST00000536845.2_Silent_p.P772P|SEMA6D_ENST00000389432.2_Silent_p.P729P|SEMA6D_ENST00000389433.2_Silent_p.P753P|SEMA6D_ENST00000358066.4_Silent_p.P710P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.P716P|SEMA6D_ENST00000558014.1_Silent_p.P710P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	772					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGCTCTTCCTACTCCTGAGT	0.527													C|||	3985	0.795727	0.9811	0.6527	5008	,	,		17316	0.8442		0.6352	False		,,,				2504	0.7618				p.P772P		Atlas-SNP	.											.	SEMA6D	322	.	0			c.T2316C						PASS	.	C	,,,,,	4037,357	169.8+/-200.3	1859,319,19	59	61	60		2130,2130,2091,2148,2316,	-1.1	1	15	dbSNP_83	60	5223,3371	484.6+/-371.4	1598,2027,672	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,	3457,2346,691	CC,CT,TT		39.225,8.1247,28.7034	,,,,,	710/1012,710/1012,697/999,716/1018,772/1074,	48063076	9260,3728	2197	4297	6494	SO:0001819	synonymous_variant	80031	exon19			TCTTCCTACTCCT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2316T>C	15.37:g.48063076T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	101	40	0.39604	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			T|0.258;C|0.742	0.742	strong		0.527	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		C	48063076	T	C	48063076	2	2	22	1	0	0	0	0	0	0	0	1	14042	1509	53	3		3	SEMA6D	15	48063076	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5005	48063076	54468316	7717	12825										
SLC24A5	283652	hgsc.bcm.edu	37	chr15	48426484	48426484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctcaggatgttgcaggcAcaactttcatggcagcgggc	13	10	2	0	rs1426654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:48426484A>G	ENST00000341459.3	+	3	404	c.331A>G	c.(331-333)Aca>Gca	p.T111A	SLC24A5_ENST00000449382.2_Missense_Mutation_p.T51A	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	111			T -> A (associated with SHEP4; greatly reduced exchange activity; dbSNP:rs1426654). {ECO:0000269|PubMed:16357253, ECO:0000269|PubMed:17999355}.		ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGTTGCAGGCACAACTTTCAT	0.378													G|||	2816	0.5623	0.9259	0.4107	5008	,	,		20353	0.9881		0.003	False		,,,				2504	0.3149				p.T111A		Atlas-SNP	.											.	SLC24A5	64	.	0			c.A331G	GRCh37	CM054862	SLC24A5	M	rs1426654	PASS	.	G	ALA/THR	3388,1008	373.9+/-321.0	1323,742,133	156	163	161	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	331	5.6	1	15	dbSNP_88	161	42,8552	816.9+/-406.9	1,40,4256	yes	missense	SLC24A5	NM_205850.2	58	1324,782,4389	GG,GA,AA		0.4887,22.9299,26.4049	benign	111/501	48426484	3430,9560	2198	4297	6495	SO:0001583	missense	283652	exon3			GCAGGCACAACTT	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.331A>G	15.37:g.48426484A>G	ENSP00000341550:p.Thr111Ala	Somatic	198	1	0.00505051		WXS	Illumina HiSeq	Phase_I	190	190	1	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	1141	0.5224358974358975	454	0.9227642276422764	120	0.3314917127071823	564	0.986013986013986	3	0.00395778364116095	G	9.239	1.037742	0.19669	0.770701	0.004887	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61510	0.1;0.1	5.55	5.55	0.83447	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00007	-3.17	0.44908	P	0.0020719999999999628	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44817	-0.9303	9	0.02654	T	1	.	14.8111	0.69996	0.0685:0.0:0.9315:0.0	rs1426654;rs52802038;rs58147390;rs1426654	51;111	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	A	111;51	ENSP00000341550:T111A;ENSP00000389966:T51A	ENSP00000341550:T111A	T	+	1	0	SLC24A5	46213776	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.460000	0.80816	1.604000	0.50143	-0.186000	0.12905	ACA	A|0.618;G|0.382	0.382	strong		0.378	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		G	48426484	A	G	48426484	3	3	22	1	0	0	0	0	1	0	0	0	14469	159	6	2	341	2	SLC24A5	15	48426484	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	363408	48426484	54104908	7718	12826										
FBN1	2200	hgsc.bcm.edu	37	chr15	48734008	48734008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttactgcatgtgcccagggCacaaatttctggctcttcga	10	11	2	0	rs113577372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:48734008C>A	ENST00000316623.5	-	50	6528	c.6073G>T	c.(6073-6075)Gcc>Tcc	p.A2025S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2025	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCCCAGGGCACAAATTTCT	0.448													C|||	10	0.00199681	0.0076	0.0	5008	,	,		19650	0.0		0.0	False		,,,				2504	0.0				p.A2025S		Atlas-SNP	.											.	FBN1	310	.	0			c.G6073T						PASS	.	C	SER/ALA	21,4375	29.0+/-57.7	0,21,2177	137	135	136		6073	5.9	1	15	dbSNP_132	136	0,8592		0,0,4296	yes	missense	FBN1	NM_000138.4	99	0,21,6473	AA,AC,CC		0.0,0.4777,0.1617	possibly-damaging	2025/2872	48734008	21,12967	2198	4296	6494	SO:0001583	missense	2200	exon50			CCAGGGCACAAAT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6073G>T	15.37:g.48734008C>A	ENSP00000325527:p.Ala2025Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	12.59	1.982249	0.34942	0.004777	0.0	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.91996	-2.95	5.94	5.94	0.96194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.098253	0.64402	D	0.000001	T	0.77552	0.4147	N	0.01800	-0.715	0.80722	D	1	B	0.25850	0.136	B	0.29942	0.109	T	0.76753	-0.2843	10	0.17832	T	0.49	.	19.9452	0.97179	0.0:1.0:0.0:0.0	.	2025	P35555	FBN1_HUMAN	S	2025;593;915	ENSP00000325527:A2025S	ENSP00000325527:A2025S	A	-	1	0	FBN1	46521300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.864000	0.39469	2.807000	0.96579	0.650000	0.86243	GCC	C|0.998;A|0.002	0.002	strong		0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48734008	C	A	48734008	3	1	22	1	0	0	0	0	1	0	0	0	5702	710	25	4	2610	4	FBN1	15	48734008	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	307524	48734008	53797384	7719	12827										
GALK2	2585	hgsc.bcm.edu	37	chr15	49574223	49574223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccaagagtgagcgttacAttggcactgaaggaggaggc	16	7	0	3	rs35507772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:49574223A>G	ENST00000560031.1	+	6	851	c.544A>G	c.(544-546)Att>Gtt	p.I182V	GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000327171.3_Missense_Mutation_p.I171V|GALK2_ENST00000396509.2_Missense_Mutation_p.I158V|GALK2_ENST00000543495.1_Missense_Mutation_p.I53V|GALK2_ENST00000559454.1_Missense_Mutation_p.I158V|GALK2_ENST00000544523.1_Missense_Mutation_p.I158V			Q01415	GALK2_HUMAN	galactokinase 2	182			I -> V (in dbSNP:rs35507772).		carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TGAGCGTTACATTGGCACTGA	0.418													A|||	31	0.0061901	0.0227	0.0014	5008	,	,		20552	0.0		0.0	False		,,,				2504	0.0				p.I182V		Atlas-SNP	.											.	GALK2	78	.	0			c.A544G						PASS	.	A	VAL/ILE,VAL/ILE	85,4307	72.0+/-110.0	0,85,2111	132	124	126		511,544	5.8	1	15	dbSNP_126	126	0,8590		0,0,4295	yes	missense,missense	GALK2	NM_001001556.1,NM_002044.2	29,29	0,85,6406	GG,GA,AA		0.0,1.9353,0.6548	benign,benign	171/448,182/459	49574223	85,12897	2196	4295	6491	SO:0001583	missense	2585	exon6			CGTTACATTGGCA		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.544A>G	15.37:g.49574223A>G	ENSP00000453129:p.Ile182Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	75	0.559702	NM_002044	Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	A	17.89	3.500334	0.64298	0.019353	0.0	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.86562	-2.14;-2.14;-2.14	5.79	5.79	0.91817	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.043082	0.85682	D	0.000000	T	0.62245	0.2412	N	0.11870	0.19	0.80722	D	1	B;B	0.32382	0.368;0.174	B;B	0.42062	0.374;0.213	T	0.72047	-0.4408	10	0.15499	T	0.54	-14.2408	16.1193	0.81336	1.0:0.0:0.0:0.0	rs35507772	182;171	Q01415;Q7Z4Q4	GALK2_HUMAN;.	V	171;182;53;158	ENSP00000316632:I171V;ENSP00000443220:I53V;ENSP00000440312:I158V	ENSP00000316632:I171V	I	+	1	0	GALK2	47361515	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.983000	0.70540	2.201000	0.70794	0.533000	0.62120	ATT	A|0.992;G|0.008	0.008	strong		0.418	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			G	49574223	A	G	49574223	3	3	22	1	0	0	0	0	1	0	0	0	6204	217	8	2	590	2	GALK2	15	49574223	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	840215	49574223	52957169	7720	12828										
SLC27A2	11001	hgsc.bcm.edu	37	chr15	50474766	50474766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggtgcgcagctacgggAagcggcggccggcgcgcacc	20	13	0	0	rs1648348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:50474766A>C	ENST00000267842.5	+	1	374	c.142A>C	c.(142-144)Aag>Cag	p.K48Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.K48Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	48			K -> Q (in dbSNP:rs1648348). {ECO:0000269|PubMed:10198260, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1, ECO:0000269|Ref.6}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAGCTACGGGAAGCGGCGGCC	0.647													A|||	3070	0.613019	0.3729	0.6326	5008	,	,		13597	0.8095		0.6501	False		,,,				2504	0.683				p.K48Q		Atlas-SNP	.											.	SLC27A2	50	.	0			c.A142C						PASS	.	A	GLN/LYS,GLN/LYS	1867,2519		393,1081,719	19	20	20		142,142	0.7	0	15	dbSNP_89	20	5703,2873		1911,1881,496	yes	missense,missense	SLC27A2	NM_001159629.1,NM_003645.3	53,53	2304,2962,1215	CC,CA,AA		33.5005,42.5673,41.5985	benign,benign	48/568,48/621	50474766	7570,5392	2193	4288	6481	SO:0001583	missense	11001	exon1			TACGGGAAGCGGC	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.142A>C	15.37:g.50474766A>C	ENSP00000267842:p.Lys48Gln	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	51	11	0.215686	NM_003645	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	1413	0.646978021978022	205	0.4166666666666667	221	0.6104972375690608	471	0.8234265734265734	516	0.6807387862796834	A	1.463	-0.561990	0.03939	0.425673	0.664995	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.60548	0.29;0.18	4.94	0.708	0.18144	.	2.094770	0.02304	N	0.071516	T	0.00012	0.0000	N	0.05280	-0.08	0.50467	P	1.2900000000004574E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.45745	-0.9240	9	0.20519	T	0.43	.	13.7473	0.62883	0.6771:0.3229:0.0:0.0	rs1648348;rs17848318;rs1648348	48;48	Q6PF09;O14975	.;S27A2_HUMAN	Q	48	ENSP00000370289:K48Q;ENSP00000267842:K48Q	ENSP00000267842:K48Q	K	+	1	0	SLC27A2	48262058	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.034000	0.13776	-0.049000	0.13379	-0.249000	0.11873	AAG	A|0.412;C|0.588	0.588	strong		0.647	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		C	50474766	A	C	50474766	3	2	22	1	0	0	0	0	1	0	0	0	14526	247	9	5	144	5	SLC27A2	15	50474766	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	900543	50474766	52056626	7721	12829										
HDC	3067	hgsc.bcm.edu	37	chr15	50534789	50534789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctggggcctcttctgaaaAgcagtcatcaactgggtcca	10	11	5	1	rs16963486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:50534789A>G	ENST00000267845.3	-	12	2059	c.1657T>C	c.(1657-1659)Ttt>Ctt	p.F553L	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.F520L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCTTCTGAAAAGCAGTCATCA	0.537													A|||	105	0.0209665	0.0764	0.0058	5008	,	,		20285	0.0		0.0	False		,,,				2504	0.0				p.F553L	GBM(95;1627 1936 6910 9570)	Atlas-SNP	.											.	HDC	86	.	0			c.T1657C						PASS	.	A	LEU/PHE	319,4073	168.3+/-199.2	11,297,1888	87	88	88		1657	5.7	1	15	dbSNP_123	88	1,8589	1.2+/-3.3	0,1,4294	yes	missense	HDC	NM_002112.3	22	11,298,6182	GG,GA,AA		0.0116,7.2632,2.465	probably-damaging	553/663	50534789	320,12662	2196	4295	6491	SO:0001583	missense	3067	exon12			CTGAAAAGCAGTC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1657T>C	15.37:g.50534789A>G	ENSP00000267845:p.Phe553Leu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	123	65	0.528455	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	44	0.020146520146520148	41	0.08333333333333333	3	0.008287292817679558	0	0.0	0	0.0	A	17.30	3.353885	0.61293	0.072632	1.16E-4	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.14144	2.92;2.53	5.73	5.73	0.89815	.	0.365309	0.23805	N	0.044383	T	0.01061	0.0035	L	0.34521	1.04	0.43444	D	0.99562	D;D	0.67145	0.996;0.976	P;B	0.54759	0.76;0.446	T	0.00294	-1.1840	10	0.54805	T	0.06	-19.7657	16.0115	0.80406	1.0:0.0:0.0:0.0	rs16963486;rs52824591;rs16963486	520;553	B7ZM01;P19113	.;DCHS_HUMAN	L	553;520	ENSP00000267845:F553L;ENSP00000440252:F520L	ENSP00000267845:F553L	F	-	1	0	HDC	48322081	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	6.778000	0.75043	2.187000	0.69744	0.460000	0.39030	TTT	A|0.975;G|0.025	0.025	strong		0.537	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			G	50534789	A	G	50534789	3	3	22	1	0	0	0	0	1	0	0	0	7015	72	3	3	335	3	HDC	15	50534789	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60023	50534789	51996603	7722	12830										
USP8	9101	hgsc.bcm.edu	37	chr15	50776525	50776525	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctaaggacaggaactttTagagaggatacagacgatac	10	6	1	2	rs10220843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:50776525T>C	ENST00000396444.3	+	12	2195	c.1857T>C	c.(1855-1857)ttT>ttC	p.F619F	USP8_ENST00000307179.4_Silent_p.F619F|USP8_ENST00000433963.1_Silent_p.F619F|USP8_ENST00000425032.3_Intron	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	619					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGGAACTTTTAGAGAGGATA	0.299													T|||	555	0.110823	0.3245	0.0634	5008	,	,		17432	0.0179		0.0328	False		,,,				2504	0.0317				p.F619F		Atlas-SNP	.											.	USP8	90	.	0			c.T1857C						PASS	.	T	,,	1075,3317	373.7+/-320.9	139,797,1260	61	64	63		1857,1857,1857	2.7	1	15	dbSNP_119	63	272,8306	101.6+/-162.9	8,256,4025	no	coding-synonymous,coding-synonymous,coding-synonymous	USP8	NM_001128610.1,NM_001128611.1,NM_005154.3	,,	147,1053,5285	CC,CT,TT		3.1709,24.4763,10.3855	,,	619/1119,619/1119,619/1119	50776525	1347,11623	2196	4289	6485	SO:0001819	synonymous_variant	9101	exon12			AACTTTTAGAGAG	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1857T>C	15.37:g.50776525T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																			T|0.906;C|0.094	0.094	strong		0.299	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		C	50776525	T	C	50776525	2	2	22	1	0	0	0	0	0	0	0	1	17086	1751	61	2		2	USP8	15	50776525	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	241736	50776525	51754867	7723	12831										
USP50	373509	hgsc.bcm.edu	37	chr15	50836846	50836846	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagcggcaagatgctgcaGagacactgtgagatggcatt	13	9	0	3	rs114737323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:50836846G>C	ENST00000532404.1	-	2	359	c.186C>G	c.(184-186)ctC>ctG	p.L62L	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	62	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		AGATGCTGCAGAGACACTGTG	0.537													G|||	166	0.033147	0.121	0.0086	5008	,	,		16271	0.0		0.0	False		,,,				2504	0.0				p.L62L		Atlas-SNP	.											.	USP50	24	.	0			c.C186G						PASS	.	G		364,3704		20,324,1690	55	58	57		186	1.7	1	15	dbSNP_132	57	2,8376		0,2,4187	no	coding-synonymous	USP50	NM_203494.4		20,326,5877	CC,CG,GG		0.0239,8.9479,2.9407		62/335	50836846	366,12080	2034	4189	6223	SO:0001819	synonymous_variant	373509	exon2			GCTGCAGAGACAC	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.186C>G	15.37:g.50836846G>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	86	43	0.5	NM_203494	E9PP86	Silent	SNP	ENST00000532404.1	37	CCDS53944.1																																																																																			G|0.957;C|0.043	0.043	strong		0.537	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			C	50836846	G	C	50836846	2	2	22	1	0	0	0	0	0	0	0	1	17079	929	33	4		4	USP50	15	50836846	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60321	50836846	51694546	7724	12832										
SPPL2A	84888	hgsc.bcm.edu	37	chr15	51023216	51023216	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatcatagaggaggagaagGcctagaagtatcacacatga	11	7	2	4	rs76947817	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51023216G>C	ENST00000261854.5	-	10	1309	c.1035C>G	c.(1033-1035)ggC>ggG	p.G345G		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	345					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GGAGGAGAAGGCCTAGAAGTA	0.313													G|||	86	0.0171725	0.0635	0.0029	5008	,	,		15019	0.0		0.0	False		,,,				2504	0.0				p.G345G	Melanoma(50;790 1209 4069 22965 33125)	Atlas-SNP	.											.	SPPL2A	26	.	0			c.C1035G						PASS	.	G		240,4152	134.5+/-170.7	6,228,1962	64	60	61		1035	1.6	1	15	dbSNP_131	61	1,8575	1.2+/-3.3	0,1,4287	no	coding-synonymous	SPPL2A	NM_032802.3		6,229,6249	CC,CG,GG		0.0117,5.4645,1.8584		345/521	51023216	241,12727	2196	4288	6484	SO:0001819	synonymous_variant	84888	exon10			GAGAAGGCCTAGA		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1035C>G	15.37:g.51023216G>C		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	214	104	0.485981	NM_032802	B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	CCDS10138.1																																																																																			G|0.977;C|0.023	0.023	strong		0.313	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		C	51023216	G	C	51023216	2	2	22	1	0	0	0	0	0	0	0	1	15087	1190	42	4		4	SPPL2A	15	51023216	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	186370	51023216	51508176	7725	12833										
AP4E1	23431	hgsc.bcm.edu	37	chr15	51233881	51233881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggactgaaggctcttacctAtgttatccaacaggatccta	8	10	1	1	rs58909326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51233881A>G	ENST00000261842.5	+	10	1191	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	AP4E1_ENST00000560508.1_Missense_Mutation_p.Y287C	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	362					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCTCTTACCTATGTTATCCAA	0.353													A|||	72	0.014377	0.053	0.0029	5008	,	,		16104	0.0		0.0	False		,,,				2504	0.0				p.Y362C		Atlas-SNP	.											.	AP4E1	78	.	0			c.A1085G						PASS	.	A	CYS/TYR	216,4176	131.8+/-168.3	5,206,1985	147	137	141		1085	4.9	1	15	dbSNP_129	141	2,8586	2.2+/-6.3	0,2,4292	yes	missense	AP4E1	NM_007347.3	194	5,208,6277	GG,GA,AA		0.0233,4.918,1.6795	benign	362/1138	51233881	218,12762	2196	4294	6490	SO:0001583	missense	23431	exon10			TTACCTATGTTAT	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1085A>G	15.37:g.51233881A>G	ENSP00000261842:p.Tyr362Cys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	128	62	0.484375	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	35	0.016025641025641024	35	0.07113821138211382	0	0.0	0	0.0	0	0.0	A	11.86	1.763436	0.31228	0.04918	2.33E-4	ENSG00000081014	ENST00000261842	T	0.25414	1.8	6.04	4.93	0.64822	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.061436	0.64402	D	0.000002	T	0.01029	0.0034	N	0.16098	0.37	0.58432	D	0.999997	B	0.22800	0.075	B	0.21917	0.037	T	0.10823	-1.0613	10	0.37606	T	0.19	-17.2068	9.7604	0.40528	0.8689:0.0:0.1311:0.0	rs58909326	362	Q9UPM8	AP4E1_HUMAN	C	362	ENSP00000261842:Y362C	ENSP00000261842:Y362C	Y	+	2	0	AP4E1	49021173	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.930000	0.63462	2.317000	0.78254	0.460000	0.39030	TAT	A|0.982;G|0.018	0.018	strong		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			G	51233881	A	G	51233881	3	3	22	1	0	0	0	0	1	0	0	0	752	449	16	2	1123	2	AP4E1	15	51233881	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	210665	51233881	51297511	7726	12834										
AP4E1	23431	hgsc.bcm.edu	37	chr15	51294832	51294832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgactatttactgtatcaGtgtcaaaaggtgatggaggg	12	6	2	2	rs3825798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51294832G>A	ENST00000261842.5	+	21	3493	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.Q1054Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1129					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TACTGTATCAGTGTCAAAAGG	0.408													G|||	1022	0.204073	0.0673	0.1974	5008	,	,		19045	0.4653		0.2197	False		,,,				2504	0.1084				p.Q1129Q		Atlas-SNP	.											AP4E1,NS,carcinoma,0,1	AP4E1	78	1	0			c.G3387A						PASS	.	G		472,3920	223.0+/-239.6	35,402,1759	205	162	176		3387	3.6	1	15	dbSNP_107	176	1989,6597	349.5+/-327.4	218,1553,2522	no	coding-synonymous	AP4E1	NM_007347.3		253,1955,4281	AA,AG,GG		23.1656,10.7468,18.9629		1129/1138	51294832	2461,10517	2196	4293	6489	SO:0001819	synonymous_variant	23431	exon21			GTATCAGTGTCAA	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3387G>A	15.37:g.51294832G>A		Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	226	115	0.50885	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	CCDS32240.1																																																																																			G|0.794;A|0.206	0.206	strong		0.408	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			A	51294832	G	A	51294832	2	1	22	1	0	0	0	0	0	0	0	1	752	1020	36	2		2	AP4E1	15	51294832	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60951	51294832	51236560	7727	12835										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51783820	51783820	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatgttcctcacccaccaTcctatgcccatagctcttaa	3	15	2	0	rs10851500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51783820T>C	ENST00000251076.5	-	20	5195	c.4908A>G	c.(4906-4908)ggA>ggG	p.G1636G	DMXL2_ENST00000449909.3_Silent_p.G1000G|DMXL2_ENST00000543779.2_Silent_p.G1636G|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1636						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.G1636G(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCACCCACCATCCTATGCCCA	0.398													C|||	2229	0.445088	0.4259	0.4942	5008	,	,		17100	0.4038		0.5169	False		,,,				2504	0.4049				p.G1636G		Atlas-SNP	.											DMXL2,NS,carcinoma,0,1	DMXL2	262	1	1	Substitution - coding silent(1)	stomach(1)	c.A4908G						PASS	.	C	,,	2013,2377	612.4+/-392.0	466,1081,648	119	121	120		4908,3000,4908	-8.5	0.1	15	dbSNP_120	120	4339,4247	572.8+/-389.8	1107,2125,1061	no	coding-synonymous,coding-synonymous,coding-synonymous	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	,,	1573,3206,1709	CC,CT,TT		49.4642,45.8542,48.9519	,,	1636/3038,1000/2401,1636/3037	51783820	6352,6624	2195	4293	6488	SO:0001819	synonymous_variant	23312	exon20			CCACCATCCTATG	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4908A>G	15.37:g.51783820T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	110	49	0.445455	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			T|0.514;C|0.486	0.486	strong		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51783820	T	C	51783820	2	2	22	1	0	0	0	0	0	0	0	1	4595	1422	50	2		2	DMXL2	15	51783820	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	488988	51783820	50747572	7728	12836										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51791559	51791559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcctcttctgcattagAactatcagcttcagtgtctc	7	12	5	1	rs12102203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51791559A>G	ENST00000251076.5	-	18	4149	c.3862T>C	c.(3862-3864)Tct>Cct	p.S1288P	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1288P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1288			S -> P (in dbSNP:rs12102203). {ECO:0000269|PubMed:10048485, ECO:0000269|PubMed:15489334}.			cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S1288P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTGCATTAGAACTATCAGCT	0.398													G|||	2190	0.4373	0.3941	0.4914	5008	,	,		24831	0.4087		0.5149	False		,,,				2504	0.407				p.S1288P		Atlas-SNP	.											DMXL2,NS,carcinoma,0,1	DMXL2	262	1	1	Substitution - Missense(1)	stomach(1)	c.T3862C						PASS	.	G	PRO/SER,,PRO/SER	1902,2486	616.4+/-392.8	414,1074,706	166	164	165		3862,,3862	1.7	0.7	15	dbSNP_120	165	4332,4254	570.7+/-389.4	1106,2120,1067	yes	missense,intron,missense	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	74,,74	1520,3194,1773	GG,GA,AA		49.5458,43.3455,48.0499	benign,,benign	1288/3038,,1288/3037	51791559	6234,6740	2194	4293	6487	SO:0001583	missense	23312	exon18			CATTAGAACTATC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3862T>C	15.37:g.51791559A>G	ENSP00000251076:p.Ser1288Pro	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	147	72	0.489796	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	1039	0.4757326007326007	210	0.4268292682926829	174	0.48066298342541436	260	0.45454545454545453	395	0.521108179419525	G	0.413	-0.912045	0.02415	0.433455	0.504542	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.21932	1.98;1.98	5.66	1.7	0.24286	.	0.673581	0.16046	N	0.232187	T	0.00012	0.0000	L	0.27053	0.805	0.54753	P	1.0999999999983245E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44128	-0.9348	9	0.35671	T	0.21	.	9.3262	0.37995	0.5114:0.0:0.4885:0.0	rs12102203;rs17609478;rs52792675;rs56869598;rs12102203	1288;1288	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	P	1288	ENSP00000251076:S1288P;ENSP00000441858:S1288P	ENSP00000251076:S1288P	S	-	1	0	DMXL2	49578851	0.605000	0.26941	0.679000	0.29978	0.067000	0.16453	0.251000	0.18257	0.088000	0.17205	-0.186000	0.12905	TCT	A|0.527;G|0.472	0.472	strong		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51791559	A	G	51791559	3	3	22	1	0	0	0	0	1	0	0	0	4595	246	9	2	5355	2	DMXL2	15	51791559	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7739	51791559	50739833	7729	12837										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51795172	51795172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttctggagaagaatctacGttcttctgtccagggactga	11	8	4	3	rs12592889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51795172G>A	ENST00000251076.5	-	17	3110	c.2823C>T	c.(2821-2823)aaC>aaT	p.N941N	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.N941N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	941						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.N941N(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGAATCTACGTTCTTCTGTC	0.378													A|||	2060	0.411342	0.3011	0.4813	5008	,	,		16613	0.4077		0.5159	False		,,,				2504	0.407				p.N941N		Atlas-SNP	.											DMXL2,NS,carcinoma,0,1	DMXL2	262	1	1	Substitution - coding silent(1)	stomach(1)	c.C2823T						PASS	.	A	,,	1548,2842	669.4+/-402.2	277,994,924	89	93	92		2823,,2823	-0.2	0	15	dbSNP_120	92	4328,4258	573.8+/-389.9	1103,2122,1068	no	coding-synonymous,intron,coding-synonymous	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	,,	1380,3116,1992	AA,AG,GG		49.5924,35.262,45.2836	,,	941/3038,,941/3037	51795172	5876,7100	2195	4293	6488	SO:0001819	synonymous_variant	23312	exon17			ATCTACGTTCTTC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2823C>T	15.37:g.51795172G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			G|0.548;A|0.452	0.452	strong		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51795172	G	A	51795172	2	1	22	1	0	0	0	0	0	0	0	1	4595	1136	40	1		1	DMXL2	15	51795172	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3613	51795172	50736220	7730	12838										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51868289	51868289	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacactccacacagctgacTtggatgtttccatgcttagc	8	12	0	1	rs34998785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51868289T>C	ENST00000251076.5	-	2	464	c.177A>G	c.(175-177)caA>caG	p.Q59Q	DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Silent_p.Q59Q|DMXL2_ENST00000543779.2_Silent_p.Q59Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	59						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACAGCTGACTTGGATGTTTC	0.343													T|||	125	0.0249601	0.0885	0.0101	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0				p.Q59Q		Atlas-SNP	.											.	DMXL2	262	.	0			c.A177G						PASS	.	T	,,	399,3991	196.7+/-221.0	26,347,1822	150	139	143		177,177,177	5.3	1	15	dbSNP_126	143	10,8576	7.7+/-29.5	0,10,4283	no	coding-synonymous,coding-synonymous,coding-synonymous	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	,,	26,357,6105	CC,CT,TT		0.1165,9.0888,3.152	,,	59/3038,59/2401,59/3037	51868289	409,12567	2195	4293	6488	SO:0001819	synonymous_variant	23312	exon2			GCTGACTTGGATG	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.177A>G	15.37:g.51868289T>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	65	31	0.476923	NM_001174117	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			T|0.966;C|0.034	0.034	strong		0.343	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51868289	T	C	51868289	2	2	22	1	0	0	0	0	0	0	0	1	4595	1606	56	3		3	DMXL2	15	51868289	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73117	51868289	50663103	7731	12839										
SCG3	29106	hgsc.bcm.edu	37	chr15	51984362	51984362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccccactggagactccaAtggcagcaattcaagatggt	9	11	1	2	rs35664837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:51984362A>G	ENST00000220478.3	+	7	1100	c.697A>G	c.(697-699)Atg>Gtg	p.M233V	SCG3_ENST00000542355.2_Start_Codon_SNP_p.M1V|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	233			M -> V (in dbSNP:rs35664837).		blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GGAGACTCCAATGGCAGCAAT	0.378													A|||	335	0.066893	0.2421	0.0202	5008	,	,		20943	0.0		0.001	False		,,,				2504	0.0				p.M233V		Atlas-SNP	.											.	SCG3	50	.	0			c.A697G						PASS	.	A	VAL/MET,VAL/MET	858,3532	331.5+/-302.0	92,674,1429	82	84	83		1,697	-0.2	0.9	15	dbSNP_126	83	16,8570	10.5+/-38.8	0,16,4277	yes	missense,missense	SCG3	NM_001165257.1,NM_013243.3	21,21	92,690,5706	GG,GA,AA		0.1863,19.5444,6.7355	benign,benign	1/237,233/469	51984362	874,12102	2195	4293	6488	SO:0001583	missense	29106	exon7			ACTCCAATGGCAG	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.697A>G	15.37:g.51984362A>G	ENSP00000220478:p.Met233Val	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	56	16	0.285714	NM_013243	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	101	0.04624542124542125	95	0.19308943089430894	6	0.016574585635359115	0	0.0	0	0.0	A	5.337	0.247417	0.10130	0.195444	0.001863	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.41065	2.01;1.01	5.85	-0.205	0.13196	.	0.938701	0.09229	N	0.830880	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	9	0.37606	T	0.19	-10.026	5.4541	0.16580	0.5035:0.1668:0.3297:0.0	rs35664837	233	Q8WXD2	SCG3_HUMAN	V	233;1	ENSP00000220478:M233V;ENSP00000445205:M1V	ENSP00000220478:M233V	M	+	1	0	SCG3	49771654	0.017000	0.18338	0.902000	0.35471	0.919000	0.55068	1.154000	0.31688	-0.055000	0.13244	-0.441000	0.05720	ATG	A|0.935;G|0.065	0.065	strong		0.378	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		G	51984362	A	G	51984362	3	3	22	1	0	0	0	0	1	0	0	0	13892	101	4	2	723	2	SCG3	15	51984362	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	116073	51984362	50547030	7732	12840										
MAPK6	5597	hgsc.bcm.edu	37	chr15	52350879	52350879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttagaatctattcctgtTgtacatgaggaagatcgtca	8	6	2	3	rs2306793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52350879T>C	ENST00000261845.5	+	4	1557	c.750T>C	c.(748-750)gtT>gtC	p.V250V	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CTATTCCTGTTGTACATGAGG	0.378													t|||	550	0.109824	0.2458	0.1513	5008	,	,		20218	0.0813		0.006	False		,,,				2504	0.0327				p.V250V		Atlas-SNP	.											.	MAPK6	70	.	0			c.T750C						PASS	.	C		833,3557	329.9+/-301.2	84,665,1446	59	54	56		750	1.6	1	15	dbSNP_100	56	109,8477	59.1+/-120.7	0,109,4184	no	coding-synonymous	MAPK6	NM_002748.3		84,774,5630	CC,CT,TT		1.2695,18.9749,7.2596		250/722	52350879	942,12034	2195	4293	6488	SO:0001819	synonymous_variant	5597	exon4			TCCTGTTGTACAT	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.750T>C	15.37:g.52350879T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_002748	B2R945|B5BU65|Q68DH4|Q8IYN8	Silent	SNP	ENST00000261845.5	37	CCDS10147.1																																																																																			T|0.921;C|0.079	0.079	strong		0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		C	52350879	T	C	52350879	2	2	22	1	0	0	0	0	0	0	0	1	9281	1799	63	2		2	MAPK6	15	52350879	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	366517	52350879	50180513	7733	12841										
GNB5	10681	hgsc.bcm.edu	37	chr15	52446200	52446200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcacaggactttgttcccGtggcctttgagggtccttct	11	11	1	1	rs6493537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52446200G>A	ENST00000261837.7	-	4	377	c.312C>T	c.(310-312)caC>caT	p.H104H	GNB5_ENST00000396335.4_Silent_p.H62H|GNB5_ENST00000560116.1_Silent_p.H62H|GNB5_ENST00000358784.7_Silent_p.H62H	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	104					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTTTGTTCCCGTGGCCTTTGA	0.562													A|||	650	0.129792	0.3442	0.1167	5008	,	,		19422	0.0258		0.0417	False		,,,				2504	0.047				p.H104H		Atlas-SNP	.											.	GNB5	28	.	0			c.C312T						PASS	.	A	,	1362,3028	690.6+/-405.3	225,912,1058	152	129	137		186,312	-6	0.9	15	dbSNP_116	137	334,8252	803.8+/-407.3	5,324,3964	no	coding-synonymous,coding-synonymous	GNB5	NM_006578.3,NM_016194.3	,	230,1236,5022	AA,AG,GG		3.8901,31.0251,13.0703	,	62/354,104/396	52446200	1696,11280	2195	4293	6488	SO:0001819	synonymous_variant	10681	exon4			GTTCCCGTGGCCT	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.312C>T	15.37:g.52446200G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	66	31	0.469697	NM_016194	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																			G|0.873;A|0.127	0.127	strong		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			A	52446200	G	A	52446200	2	1	22	1	0	0	0	0	0	0	0	1	6521	1136	40	1		1	GNB5	15	52446200	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95321	52446200	50085192	7734	12842										
MYO5C	55930	hgsc.bcm.edu	37	chr15	52553259	52553259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttgcgattgcacagccaCtgagcaactctgccactctc	7	14	2	1	rs200784696		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52553259C>G	ENST00000261839.7	-	10	1274	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MYO5C_ENST00000443683.2_Missense_Mutation_p.Q314H|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	371	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCACAGCCACTGAGCAACTC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19769	0.0		0.0	False		,,,				2504	0.0				p.Q371H		Atlas-SNP	.											.	MYO5C	162	.	0			c.G1113C						PASS	.	C	HIS/GLN	2,4080		0,2,2039	67	71	70		1113	4.6	1	15		70	0,8416		0,0,4208	yes	missense	MYO5C	NM_018728.3	24	0,2,6247	GG,GC,CC		0.0,0.049,0.016	benign	371/1743	52553259	2,12496	2041	4208	6249	SO:0001583	missense	55930	exon10			CAGCCACTGAGCA	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1113G>C	15.37:g.52553259C>G	ENSP00000261839:p.Gln371His	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389752	0.11581	4.9E-4	0.0	ENSG00000128833	ENST00000261839;ENST00000443683	D;D	0.95238	-3.65;-2.21	5.51	4.59	0.56863	Myosin head, motor domain (2);	0.190704	0.47852	D	0.000217	D	0.87047	0.6080	N	0.05050	-0.12	0.47737	D	0.999502	B	0.09022	0.002	B	0.11329	0.006	T	0.81245	-0.1020	10	0.23302	T	0.38	.	16.3026	0.82830	0.0:0.8673:0.1327:0.0	.	371	Q9NQX4	MYO5C_HUMAN	H	371;314	ENSP00000261839:Q371H;ENSP00000410582:Q314H	ENSP00000261839:Q371H	Q	-	3	2	MYO5C	50340551	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	0.860000	0.27871	1.325000	0.45301	-0.175000	0.13238	CAG	.	.	weak		0.557	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52553259	C	G	52553259	3	3	22	1	0	0	0	0	1	0	0	0	10080	564	20	4	4243	4	MYO5C	15	52553259	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107059	52553259	49978133	7735	12843										
MYO5A	4644	hgsc.bcm.edu	37	chr15	52652174	52652174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaaactgtacctctgtcctTgatggaatgtcttccatttc	6	11	2	1	rs13329278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52652174T>C	ENST00000399231.3	-	25	3657	c.3414A>G	c.(3412-3414)tcA>tcG	p.S1138S	MYO5A_ENST00000399233.2_Silent_p.S1138S|MYO5A_ENST00000553916.1_Silent_p.S1138S|MYO5A_ENST00000358212.6_Silent_p.S1138S|MYO5A_ENST00000356338.6_Silent_p.S1138S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1138					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)		CCTCTGTCCTTGATGGAATGT	0.433													C|||	679	0.135583	0.4032	0.0274	5008	,	,		19263	0.0367		0.003	False		,,,				2504	0.089				p.S1138S		Atlas-SNP	.											.	MYO5A	145	.	0			c.A3414G						PASS	.	C	,	1198,2684		184,830,927	77	74	75		3414,3414	-6.4	0	15	dbSNP_121	75	38,8274		0,38,4118	no	coding-synonymous,coding-synonymous	MYO5A	NM_000259.3,NM_001142495.1	,	184,868,5045	CC,CT,TT		0.4572,30.8604,10.1361	,	1138/1856,1138/1829	52652174	1236,10958	1941	4156	6097	SO:0001819	synonymous_variant	4644	exon25			TGTCCTTGATGGA		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.3414A>G	15.37:g.52652174T>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	208	104	0.5	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																			T|0.887;C|0.113	0.113	strong		0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		C	52652174	T	C	52652174	2	2	22	1	0	0	0	0	0	0	0	1	10078	1799	63	2		2	MYO5A	15	52652174	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	98915	52652174	49879218	7736	12844										
MYO5A	4644	hgsc.bcm.edu	37	chr15	52662388	52662388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgtttcttgtttgtatCgatctgcatgttcctcaatg	8	9	4	0	rs189981926		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52662388C>T	ENST00000399231.3	-	22	3287	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	MYO5A_ENST00000399233.2_Missense_Mutation_p.R1015Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1015Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1015Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1015Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1015					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)		TTGTTTGTATCGATCTGCATG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18553	0.001		0.0	False		,,,				2504	0.0				p.R1015Q		Atlas-SNP	.											MYO5A,NS,carcinoma,-1,1	MYO5A	145	1	0			c.G3044A						scavenged	.						221	204	210					15																	52662388		1958	4137	6095	SO:0001583	missense	4644	exon22			TTGTATCGATCTG		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.3044G>A	15.37:g.52662388C>T	ENSP00000382177:p.Arg1015Gln	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	193	2	0.0103627	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.22	1.873305	0.33069	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.49	-0.393	0.12438	.	0.470824	0.25089	N	0.033224	T	0.08537	0.0212	N	0.17474	0.49	0.09310	N	1	B;B	0.18863	0.002;0.031	B;B	0.15870	0.001;0.014	T	0.24905	-1.0147	10	0.37606	T	0.19	.	7.1256	0.25469	0.1109:0.4008:0.0:0.4883	.	1015;1015	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	Q	1015;549;1015;1015;1015;645;1015	ENSP00000382177:R1015Q;ENSP00000382179:R1015Q;ENSP00000348693:R1015Q;ENSP00000350945:R1015Q;ENSP00000451109:R1015Q	ENSP00000348693:R1015Q	R	-	2	0	MYO5A	50449680	0.020000	0.18652	0.923000	0.36655	0.667000	0.39255	-0.617000	0.05584	-0.178000	0.10672	-0.797000	0.03246	CGA	C|1.000;T|0.000	0.000	strong		0.468	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		T	52662388	C	T	52662388	3	4	22	1	0	0	0	0	1	0	0	0	10078	884	31	1	2603	1	MYO5A	15	52662388	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10214	52662388	49869004	7737	12845										
MYO5A	4644	hgsc.bcm.edu	37	chr15	52676392	52676392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcttgtgctctttggccAtttggcctggtctgcctttg	10	10	3	0	rs16964944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52676392A>G	ENST00000399231.3	-	15	2123	c.1880T>C	c.(1879-1881)aTg>aCg	p.M627T	MYO5A_ENST00000399233.2_Missense_Mutation_p.M627T|MYO5A_ENST00000358212.6_Missense_Mutation_p.M627T|MYO5A_ENST00000553916.1_Missense_Mutation_p.M627T|MYO5A_ENST00000356338.6_Missense_Mutation_p.M627T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	627	Myosin motor.		M -> T (in dbSNP:rs16964944).		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)		CTCTTTGGCCATTTGGCCTGG	0.562													A|||	391	0.0780751	0.2057	0.0159	5008	,	,		18377	0.0198		0.003	False		,,,				2504	0.0869				p.M627T		Atlas-SNP	.											.	MYO5A	145	.	0			c.T1880C						PASS	.	A	THR/MET,THR/MET	657,3433		60,537,1448	127	141	137		1880,1880	-2.2	0	15	dbSNP_123	137	34,8330		0,34,4148	yes	missense,missense	MYO5A	NM_000259.3,NM_001142495.1	81,81	60,571,5596	GG,GA,AA		0.4065,16.0636,5.5484	benign,benign	627/1856,627/1829	52676392	691,11763	2045	4182	6227	SO:0001583	missense	4644	exon15			TTGGCCATTTGGC		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.1880T>C	15.37:g.52676392A>G	ENSP00000382177:p.Met627Thr	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	293	119	0.406143	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	130	0.05952380952380952	104	0.21138211382113822	9	0.024861878453038673	15	0.026223776223776224	2	0.002638522427440633	A	0.432	-0.902807	0.02453	0.160636	0.004065	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.38	-2.17	0.07059	Myosin head, motor domain (2);	0.949777	0.08906	N	0.876581	T	0.00073	0.0002	N	0.00408	-1.53	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04165	-1.0972	9	0.07990	T	0.79	.	10.3897	0.44162	0.4911:0.0:0.5089:0.0	rs16964944;rs52813869;rs16964944	627;627	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	627;161;627;627;627;257;627	ENSP00000382177:M627T;ENSP00000382179:M627T;ENSP00000348693:M627T;ENSP00000350945:M627T;ENSP00000451109:M627T	ENSP00000348693:M627T	M	-	2	0	MYO5A	50463684	0.000000	0.05858	0.001000	0.08648	0.497000	0.33675	0.705000	0.25675	-0.492000	0.06687	-0.248000	0.11899	ATG	A|0.942;G|0.058	0.058	strong		0.562	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52676392	A	G	52676392	3	3	22	1	0	0	0	0	1	0	0	0	10078	217	8	2	3795	2	MYO5A	15	52676392	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14004	52676392	49855000	7738	12846										
KIAA1370	56204	hgsc.bcm.edu	37	chr15	52901109	52901109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagattgccaaagaattTtggattatagttctcattta	7	5	1	3	rs61731676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52901109T>C	ENST00000261844.7	-	6	2154	c.2002A>G	c.(2002-2004)Aaa>Gaa	p.K668E	FAM214A_ENST00000546305.2_Missense_Mutation_p.K675E	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	668																	CCAAAGAATTTTGGATTATAG	0.269													T|||	98	0.0195687	0.0726	0.0029	5008	,	,		17454	0.0		0.0	False		,,,				2504	0.0				p.K668E		Atlas-SNP	.											.	.	.	.	0			c.A2002G						PASS	.	T	GLU/LYS	195,3367		6,183,1592	51	47	48		2002	5.2	0.2	15	dbSNP_129	48	1,8081		0,1,4040	yes	missense	KIAA1370	NM_019600.2	56	6,184,5632	CC,CT,TT		0.0124,5.4745,1.6833	benign	668/1077	52901109	196,11448	1781	4041	5822	SO:0001583	missense	56204	exon6			AGAATTTTGGATT	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2002A>G	15.37:g.52901109T>C	ENSP00000261844:p.Lys668Glu	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	83	38	0.457831	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	T	0	-2.662882	0.00107	0.054745	1.24E-4	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T;T	0.29397	1.65;1.57;1.65	6.16	5.24	0.73138	.	0.435251	0.24628	N	0.036918	T	0.00524	0.0017	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.21314	-1.0249	10	0.02654	T	1	.	11.867	0.52499	0.0:0.859:0.0:0.141	.	675;668	F5H8G0;Q32MH5	.;K1370_HUMAN	E	668;668;667;675	ENSP00000261844:K668E;ENSP00000382153:K668E;ENSP00000443598:K675E	ENSP00000261844:K668E	K	-	1	0	KIAA1370	50688401	0.012000	0.17670	0.195000	0.23364	0.037000	0.13140	1.798000	0.38814	1.598000	0.50083	-0.248000	0.11899	AAA	T|0.982;C|0.018	0.018	strong		0.269	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		C	52901109	T	C	52901109	3	2	22	1	0	0	0	0	1	0	0	0	8226	1850	64	2	1260	2	KIAA1370	15	52901109	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	224717	52901109	49630283	7739	12847										
KIAA1370	56204	hgsc.bcm.edu	37	chr15	52901283	52901283	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagacaaaattgaggaagTtgataaactagaacttttgt					rs61731670|rs386783993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52901283T>C	ENST00000261844.7	-	6	1980	c.1828A>G	c.(1828-1830)Act>Gct	p.T610A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T617A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	610				T -> A (in Ref. 2; BAF85606/BAG57301 and 5; AAI09129). {ECO:0000305}.													ATTGAGGAAGTTGATAAACTA	0.333													T|||	2157	0.430711	0.4402	0.2968	5008	,	,		17056	0.8482		0.167	False		,,,				2504	0.3538				p.T610A		Atlas-SNP	.											.	.	.	.	0			c.A1828G						PASS	.	T	ALA/THR	1334,2336		232,870,733	112	119	117		1828	2.1	0	15	dbSNP_129	117	1230,6926		116,998,2964	yes	missense	KIAA1370	NM_019600.2	58	348,1868,3697	CC,CT,TT		15.0809,36.3488,21.681	benign	610/1077	52901283	2564,9262	1835	4078	5913	SO:0001583	missense	56204	exon6			AGGAAGTTGATAA	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1828A>G	15.37:g.52901283T>C	ENSP00000261844:p.Thr610Ala	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	67	27	0.402985	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	760	0.34798534798534797	156	0.3170731707317073	86	0.23756906077348067	424	0.7412587412587412	94	0.12401055408970976	T	1.003	-0.690316	0.03303	0.363488	0.150809	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30448	1.53;1.53	5.92	2.07	0.26955	.	0.209202	0.49916	N	0.000136	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.004	T	0.20174	-1.0283	9	0.29301	T	0.29	.	5.2861	0.15702	0.1281:0.1543:0.0:0.7176	rs61731670	617;610	F5H8G0;Q32MH5	.;K1370_HUMAN	A	610;610;609;617	ENSP00000261844:T610A;ENSP00000443598:T617A	ENSP00000261844:T610A	T	-	1	0	KIAA1370	50688575	0.807000	0.29009	0.042000	0.18584	0.040000	0.13550	1.242000	0.32755	0.452000	0.26830	0.533000	0.62120	ACT	T|0.697;C|0.303	0.303	strong		0.333	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		C	52901283	T	C	52901283	3	2	22	1	0	0	0	0	1	0	0	0	8226	1725	60	2	1434	2	KIAA1370	15	52901283	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	174	52901283	49630109	7740	12848	270	2								
KIAA1370	56204	hgsc.bcm.edu	37	chr15	52901284	52901284	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagacaaaattgaggaagtTgataaactagaacttttgtt					rs58018557|rs386783993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52901284T>C	ENST00000261844.7	-	6	1979	c.1827A>G	c.(1825-1827)tcA>tcG	p.S609S	FAM214A_ENST00000546305.2_Silent_p.S616S	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	609																	TTGAGGAAGTTGATAAACTAG	0.338													C|||	2472	0.49361	0.6233	0.317	5008	,	,		17171	0.8869		0.17	False		,,,				2504	0.3712				p.S609S		Atlas-SNP	.											.	.	.	.	0			c.A1827G						PASS	.	C		1897,1773		487,923,425	110	118	115		1827	-0.1	0	15	dbSNP_129	115	1271,6885		119,1033,2926	no	coding-synonymous	KIAA1370	NM_019600.2		606,1956,3351	CC,CT,TT		15.5836,48.3106,26.7884		609/1077	52901284	3168,8658	1835	4078	5913	SO:0001819	synonymous_variant	56204	exon6			GGAAGTTGATAAA	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1827A>G	15.37:g.52901284T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	67	27	0.402985	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	CCDS45263.1																																																																																			T|0.652;C|0.348	0.348	strong		0.338	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		C	52901284	T	C	52901284	2	2	22	1	0	0	0	0	0	0	0	1	8226	1799	63	2		2	KIAA1370	15	52901284	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	52901284	49630108	7741	12849	270	2								
KIAA1370	56204	hgsc.bcm.edu	37	chr15	52901887	52901887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttcttgtgaaacccggaaAagttttgaatggagtgaact	10	5	1	3	rs75512966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:52901887A>G	ENST00000261844.7	-	6	1376	c.1224T>C	c.(1222-1224)ctT>ctC	p.L408L	FAM214A_ENST00000546305.2_Silent_p.L415L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	408																	AAACCCGGAAAAGTTTTGAAT	0.403													A|||	99	0.0197684	0.0734	0.0029	5008	,	,		19310	0.0		0.0	False		,,,				2504	0.0				p.L408L		Atlas-SNP	.											.	.	.	.	0			c.T1224C						PASS	.	A		198,3438		6,186,1626	60	56	57		1224	0.5	0	15	dbSNP_132	57	1,8143		0,1,4071	no	coding-synonymous	KIAA1370	NM_019600.2		6,187,5697	GG,GA,AA		0.0123,5.4455,1.6893		408/1077	52901887	199,11581	1818	4072	5890	SO:0001819	synonymous_variant	56204	exon6			CCGGAAAAGTTTT	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1224T>C	15.37:g.52901887A>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	CCDS45263.1																																																																																			A|0.981;G|0.019	0.019	strong		0.403	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		G	52901887	A	G	52901887	2	3	22	1	0	0	0	0	0	0	0	1	8226	1	1	2		2	KIAA1370	15	52901887	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	603	52901887	49629505	7742	12850										
WDR72	256764	hgsc.bcm.edu	37	chr15	53907679	53907679	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actaatttattaactaaaaaTagtctgctcaacaaataaac	2	7	2	0	rs16966318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:53907679T>C	ENST00000396328.1	-	15	2963	c.2724A>G	c.(2722-2724)ctA>ctG	p.L908L	WDR72_ENST00000557913.1_Silent_p.L905L|WDR72_ENST00000559418.1_Silent_p.L918L|WDR72_ENST00000360509.5_Silent_p.L908L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	908										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAACTAAAAATAGTCTGCTCA	0.338													T|||	666	0.132987	0.4289	0.0591	5008	,	,		16414	0.0		0.0408	False		,,,				2504	0.0174				p.L908L		Atlas-SNP	.											.	WDR72	177	.	0			c.A2724G						PASS	.	T		1507,2871		273,961,955	30	32	31		2724	-4.3	0.9	15	dbSNP_123	31	332,8242		5,322,3960	no	coding-synonymous	WDR72	NM_182758.2		278,1283,4915	CC,CT,TT		3.8722,34.4221,14.1986		908/1103	53907679	1839,11113	2189	4287	6476	SO:0001819	synonymous_variant	256764	exon15			TAAAAATAGTCTG	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2724A>G	15.37:g.53907679T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	146	81	0.554795	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																			T|0.867;C|0.133	0.133	strong		0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		C	53907679	T	C	53907679	2	2	22	1	0	0	0	0	0	0	0	1	17319	1393	49	2		2	WDR72	15	53907679	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1005792	53907679	48623713	7743	12851										
WDR72	256764	hgsc.bcm.edu	37	chr15	53907906	53907906	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaattatcttcattcaaagAaattcccaaagaaataggac	5	7	3	2	rs16966320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:53907906A>C	ENST00000396328.1	-	15	2736	c.2497T>G	c.(2497-2499)Tct>Gct	p.S833A	WDR72_ENST00000557913.1_Missense_Mutation_p.S830A|WDR72_ENST00000559418.1_Missense_Mutation_p.S843A|WDR72_ENST00000360509.5_Missense_Mutation_p.S833A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	833			S -> A (in dbSNP:rs16966320).							NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATTCAAAGAAATTCCCAAA	0.348													C|||	674	0.134585	0.4349	0.0591	5008	,	,		18453	0.0		0.0408	False		,,,				2504	0.0174				p.S833A		Atlas-SNP	.											.	WDR72	177	.	0			c.T2497G						PASS	.	C	ALA/SER	1523,2861	628.2+/-395.1	278,967,947	63	66	65		2497	4.8	1	15	dbSNP_123	65	331,8249	781.9+/-407.6	5,321,3964	yes	missense	WDR72	NM_182758.2	99	283,1288,4911	CC,CA,AA		3.8578,34.74,14.3011	benign	833/1103	53907906	1854,11110	2192	4290	6482	SO:0001583	missense	256764	exon15			TCAAAGAAATTCC	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2497T>G	15.37:g.53907906A>C	ENSP00000379619:p.Ser833Ala	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	80	33	0.4125	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	251	0.11492673992673992	200	0.4065040650406504	21	0.058011049723756904	0	0.0	30	0.0395778364116095	C	2.531	-0.308463	0.05458	0.3474	0.038578	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.32988	1.43;1.43	5.72	4.8	0.61643	.	0.152129	0.46442	N	0.000298	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42327	-0.9458	9	0.24483	T	0.36	.	7.0988	0.25325	0.1396:0.7203:0.0:0.1401	rs16966320;rs52795659;rs59442033;rs16966320	833	Q3MJ13	WDR72_HUMAN	A	833	ENSP00000379619:S833A;ENSP00000353699:S833A	ENSP00000353699:S833A	S	-	1	0	WDR72	51695198	0.201000	0.23410	0.996000	0.52242	0.198000	0.23893	0.430000	0.21428	1.439000	0.47511	-0.121000	0.15023	TCT	A|0.863;C|0.137	0.137	strong		0.348	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		C	53907906	A	C	53907906	3	2	22	1	0	0	0	0	1	0	0	0	17319	246	9	5	835	5	WDR72	15	53907906	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	227	53907906	48623486	7744	12852										
WDR72	256764	hgsc.bcm.edu	37	chr15	53908062	53908062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctacttttcttgatggctTaggctgcatttttttggaga	9	6	2	2	rs60404950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:53908062T>C	ENST00000396328.1	-	15	2580	c.2341A>G	c.(2341-2343)Aag>Gag	p.K781E	WDR72_ENST00000557913.1_Missense_Mutation_p.K778E|WDR72_ENST00000559418.1_Missense_Mutation_p.K791E|WDR72_ENST00000360509.5_Missense_Mutation_p.K781E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	781			K -> E (in dbSNP:rs60404950).							NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTGATGGCTTAGGCTGCATT	0.383													T|||	666	0.132987	0.4289	0.0591	5008	,	,		19694	0.0		0.0408	False		,,,				2504	0.0174				p.K781E		Atlas-SNP	.											.	WDR72	177	.	0			c.A2341G						PASS	.	T	GLU/LYS	1524,2864	480.1+/-358.7	279,966,949	191	183	186		2341	3.3	0.1	15	dbSNP_129	186	333,8253	115.7+/-175.5	5,323,3965	yes	missense	WDR72	NM_182758.2	56	284,1289,4914	CC,CT,TT		3.8784,34.7311,14.3132	benign	781/1103	53908062	1857,11117	2194	4293	6487	SO:0001583	missense	256764	exon15			ATGGCTTAGGCTG	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2341A>G	15.37:g.53908062T>C	ENSP00000379619:p.Lys781Glu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	129	63	0.488372	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	251	0.11492673992673992	200	0.4065040650406504	21	0.058011049723756904	0	0.0	30	0.0395778364116095	T	7.837	0.721074	0.15372	0.347311	0.038784	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.40225	1.04;1.04	5.69	3.34	0.38264	.	0.532914	0.20459	N	0.091925	T	0.00012	0.0000	N	0.17082	0.46	0.58432	P	5.000000000032756E-6	B	0.10296	0.003	B	0.08055	0.003	T	0.44236	-0.9341	9	0.40728	T	0.16	.	5.2646	0.15591	0.0:0.1549:0.316:0.5291	rs60404950	781	Q3MJ13	WDR72_HUMAN	E	781	ENSP00000379619:K781E;ENSP00000353699:K781E	ENSP00000353699:K781E	K	-	1	0	WDR72	51695354	0.540000	0.26410	0.050000	0.19076	0.499000	0.33736	1.038000	0.30254	0.419000	0.25927	-0.376000	0.06991	AAG	T|0.871;C|0.129	0.129	strong		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		C	53908062	T	C	53908062	3	2	22	1	0	0	0	0	1	0	0	0	17319	1763	61	2	991	2	WDR72	15	53908062	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	156	53908062	48623330	7745	12853										
WDR72	256764	hgsc.bcm.edu	37	chr15	53997415	53997415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcttgaagagtccaggtgGcagttactggtatctctaaa	10	7	2	2	rs142505794		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:53997415G>T	ENST00000396328.1	-	11	1357	c.1118C>A	c.(1117-1119)gCc>gAc	p.A373D	WDR72_ENST00000557913.1_Missense_Mutation_p.A370D|WDR72_ENST00000559418.1_Missense_Mutation_p.A383D|WDR72_ENST00000360509.5_Missense_Mutation_p.A373D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	373										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGTCCAGGTGGCAGTTACTGG	0.358																																					p.A373D		Atlas-SNP	.											.	WDR72	177	.	0			c.C1118A						PASS	.	G	ASP/ALA	1,4387	2.1+/-5.4	0,1,2193	61	62	61		1118	4.8	1	15	dbSNP_134	61	0,8586		0,0,4293	no	missense	WDR72	NM_182758.2	126	0,1,6486	TT,TG,GG		0.0,0.0228,0.0077	benign	373/1103	53997415	1,12973	2194	4293	6487	SO:0001583	missense	256764	exon11			CAGGTGGCAGTTA	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1118C>A	15.37:g.53997415G>T	ENSP00000379619:p.Ala373Asp	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	38	23	0.605263	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265633	0.40095	2.28E-4	0.0	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.52295	0.67;0.67	5.75	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.281989	0.35262	N	0.003332	T	0.33876	0.0878	N	0.14661	0.345	0.24960	N	0.991737	B	0.21606	0.058	B	0.18561	0.022	T	0.31641	-0.9936	10	0.59425	D	0.04	.	15.9329	0.79679	0.0:0.1353:0.8647:0.0	.	373	Q3MJ13	WDR72_HUMAN	D	373	ENSP00000379619:A373D;ENSP00000353699:A373D	ENSP00000353699:A373D	A	-	2	0	WDR72	51784707	0.988000	0.35896	0.997000	0.53966	0.830000	0.47004	3.442000	0.52900	1.434000	0.47414	0.460000	0.39030	GCC	G|1.000;T|0.000	0.000	weak		0.358	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53997415	G	T	53997415	3	4	22	1	0	0	0	0	1	0	0	0	17319	1203	42	4	2230	4	WDR72	15	53997415	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89353	53997415	48533977	7746	12854										
RSL24D1	51187	hgsc.bcm.edu	37	chr15	55489065	55489065	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatagatgggccccgaacaGaaataacacttttcgatacg	10	9	0	2	rs9300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55489065G>A	ENST00000260443.4	-	1	200	c.24C>T	c.(22-24)ttC>ttT	p.F8F	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	8					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)		p.F8F(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						GCCCCGAACAGAAATAACACT	0.537											OREG0023135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1354	0.270367	0.5492	0.1326	5008	,	,		19967	0.1379		0.1918	False		,,,				2504	0.2086				p.F8F		Atlas-SNP	.											RSL24D1,NS,carcinoma,0,1	RSL24D1	11	1	1	Substitution - coding silent(1)	stomach(1)	c.C24T						PASS	.	G		2125,2261	578.1+/-384.6	507,1111,575	116	90	99		24	3.5	1	15	dbSNP_52	99	1627,6957	301.4+/-305.4	146,1335,2811	no	coding-synonymous	RSL24D1	NM_016304.2		653,2446,3386	AA,AG,GG		18.9539,48.4496,28.9283		8/164	55489065	3752,9218	2193	4292	6485	SO:0001819	synonymous_variant	51187	exon1			CGAACAGAAATAA	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"chromosome 15 open reading frame 15"	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.24C>T	15.37:g.55489065G>A		Somatic	76	0	0	1008	WXS	Illumina HiSeq	Phase_I	84	37	0.440476	NM_016304	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Silent	SNP	ENST00000260443.4	37	CCDS10152.1																																																																																			G|0.721;A|0.279	0.279	strong		0.537	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304		A	55489065	G	A	55489065	2	1	22	1	0	0	0	0	0	0	0	1	13701	933	33	2		2	RSL24D1	15	55489065	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1491650	55489065	47042327	7747	12855										
PIGB	9488	hgsc.bcm.edu	37	chr15	55647617	55647617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagggaaattcaacatgaAgatgaaattctgaactttcc	7	6	2	4	rs2444042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55647617A>C	ENST00000164305.5	+	12	1943	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	PIGB_ENST00000539642.1_Missense_Mutation_p.K356T|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|CCPG1_ENST00000442196.3_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	551			K -> T (in dbSNP:rs2444042).		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTCAACATGAAGATGAAATTC	0.368													A|||	96	0.0191693	0.0719	0.0014	5008	,	,		17374	0.0		0.0	False		,,,				2504	0.0				p.K551T		Atlas-SNP	.											.	PIGB	36	.	0			c.A1652C						PASS	.	A	,,,THR/LYS,	239,3401		7,225,1588	89	89	89		,,,1652,	3.4	0.3	15	dbSNP_100	89	2,8126		0,2,4062	yes	utr-3,utr-3,utr-3,missense,utr-3	CCPG1,PIGB	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_004855.4,NM_020739.3	,,,78,	7,227,5650	CC,CA,AA		0.0246,6.5659,2.0479	,,,benign,	,,,551/555,	55647617	241,11527	1820	4064	5884	SO:0001583	missense	9488	exon12			ACATGAAGATGAA	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1652A>C	15.37:g.55647617A>C	ENSP00000164305:p.Lys551Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_004855	Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37		32	0.014652014652014652	31	0.06300813008130081	1	0.0027624309392265192	0	0.0	0	0.0	A	7.554	0.663207	0.14710	0.065659	2.46E-4	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59638	0.51;0.25	5.67	3.39	0.38822	.	3.113960	0.00954	N	0.003003	T	0.03827	0.0108	N	0.03608	-0.345	0.80722	D	1	B	0.31318	0.319	B	0.30029	0.11	T	0.02668	-1.1126	10	0.66056	D	0.02	9.0326	8.6085	0.33789	0.8432:0.0:0.1568:0.0	rs2444042;rs52826750;rs2444042	551	Q92521	PIGB_HUMAN	T	551;356	ENSP00000164305:K551T;ENSP00000438963:K356T	ENSP00000164305:K551T	K	+	2	0	PIGB	53434909	0.999000	0.42202	0.263000	0.24496	0.257000	0.26127	1.168000	0.31859	0.452000	0.26830	0.482000	0.46254	AAG	A|0.977;C|0.023	0.023	strong		0.368	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		C	55647617	A	C	55647617	3	2	22	1	0	0	0	0	1	0	0	0	11885	72	3	5	1698	5	PIGB	15	55647617	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	158552	55647617	46883775	7748	12856										
DYX1C1	161582	hgsc.bcm.edu	37	chr15	55722882	55722882	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtcattaagattttagttCtgttccttgaattacattcc	5	7	2	2	rs57809907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55722882C>A	ENST00000321149.3	-	10	1616	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000457155.2_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_3'UTR|DYX1C1_ENST00000448430.2_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	417					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GATTTTAGTTCTGTTCCTTGA	0.338													C|||	879	0.175519	0.4818	0.0706	5008	,	,		13441	0.0089		0.0865	False		,,,				2504	0.0992				p.E417X		Atlas-SNP	.											DYX1C1,NS,carcinoma,+2,1	DYX1C1	54	1	0			c.G1249T	GRCh37	CM035520	DYX1C1	M	rs57809907	PASS	.	C	,,stop/GLU	1825,2559	532.5+/-373.5	383,1059,750	107	107	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,1249	4.7	1	15	dbSNP_129	107	765,7809	181.3+/-230.0	28,709,3550	yes	utr-3,intron,stop-gained	DYX1C1	NM_001033559.2,NM_001033560.1,NM_130810.3	,,	411,1768,4300	AA,AC,CC		8.9223,41.6286,19.9877	,,	,,417/421	55722882	2590,10368	2192	4287	6479	SO:0001587	stop_gained	161582	exon10			TTAGTTCTGTTCC		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1249G>T	15.37:g.55722882C>A	ENSP00000323275:p.Glu417*	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_130810	Q6P5Y9|Q8N1S6	Nonsense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	344	0.1575091575091575	243	0.49390243902439024	26	0.0718232044198895	6	0.01048951048951049	69	0.09102902374670185	C	38	7.101446	0.98063	0.416286	0.089223	ENSG00000256061	ENST00000321149	.	.	.	5.6	4.68	0.58851	.	0.670270	0.13414	U	0.389654	.	.	.	.	.	.	0.09310	P	0.9999999862604	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	7.7377	0.28823	0.0:0.717:0.1348:0.1483	rs57809907	.	.	.	X	417	.	ENSP00000323275:E417X	E	-	1	0	DYX1C1	53510174	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.079000	0.11357	1.350000	0.45770	0.558000	0.71614	GAA	C|0.819;A|0.181	0.181	strong		0.338	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55722882	C	A	55722882	4	1	22	1	0	0	0	0	0	1	0	0	4862	922	32	4	120	4	DYX1C1	15	55722882	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75265	55722882	46808510	7749	12857										
DYX1C1	161582	hgsc.bcm.edu	37	chr15	55790053	55790053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaataaaaatggaggaaagTtgacctatgcagaagggtga	12	4	0	3	rs61733359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55790053T>C	ENST00000321149.3	-	3	495	c.128A>G	c.(127-129)aAc>aGc	p.N43S	DYX1C1_ENST00000380679.1_Missense_Mutation_p.N43S|DYX1C1_ENST00000448430.2_Missense_Mutation_p.N43S|DYX1C1_ENST00000457155.2_Missense_Mutation_p.N43S|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.N43S	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	43	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGGAGGAAAGTTGACCTATGC	0.363													T|||	15	0.00299521	0.0106	0.0014	5008	,	,		17266	0.0		0.0	False		,,,				2504	0.0				p.N43S		Atlas-SNP	.											.	DYX1C1	54	.	0			c.A128G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN	59,4327	55.5+/-91.7	0,59,2134	81	81	81		128,128,128	3.6	1	15	dbSNP_129	81	1,8583		0,1,4291	yes	missense,missense,missense	DYX1C1	NM_001033559.2,NM_001033560.1,NM_130810.3	46,46,46	0,60,6425	CC,CT,TT		0.0116,1.3452,0.4626	benign,benign,benign	43/377,43/382,43/421	55790053	60,12910	2193	4292	6485	SO:0001583	missense	161582	exon3			GGAAAGTTGACCT		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.128A>G	15.37:g.55790053T>C	ENSP00000323275:p.Asn43Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	19	0.513514	NM_001033560	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	T	15.43	2.830177	0.50845	0.013452	1.16E-4	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.72	3.56	0.40772	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.272597	0.33610	U	0.004729	T	0.10723	0.0262	N	0.17872	0.535	0.30138	N	0.804168	B;B;B	0.32526	0.057;0.119;0.374	B;B;B	0.34138	0.082;0.078;0.176	T	0.16958	-1.0385	10	0.02654	T	1	.	7.8669	0.29543	0.0:0.1574:0.0:0.8426	.	43;43;43	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	S	43	ENSP00000403412:N43S;ENSP00000370054:N43S;ENSP00000402640:N43S;ENSP00000323275:N43S;ENSP00000299561:N43S	ENSP00000323275:N43S	N	-	2	0	DYX1C1	53577345	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	1.407000	0.34657	1.984000	0.57885	0.459000	0.35465	AAC	T|0.995;C|0.005	0.005	strong		0.363	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		C	55790053	T	C	55790053	3	2	22	1	0	0	0	0	1	0	0	0	4862	1725	60	2	1269	2	DYX1C1	15	55790053	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67171	55790053	46741339	7750	12858										
DYX1C1	161582	hgsc.bcm.edu	37	chr15	55790414	55790414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcattcttaccttcagataGttttccgtgcagaacacgtc	7	11	2	2	rs16976354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55790414G>T	ENST00000321149.3	-	2	481	c.114C>A	c.(112-114)aaC>aaA	p.N38K	DYX1C1_ENST00000380679.1_Missense_Mutation_p.N38K|DYX1C1_ENST00000448430.2_Missense_Mutation_p.N38K|DYX1C1_ENST00000457155.2_Missense_Mutation_p.N38K|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.N38K	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	38	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.		N -> K (in dbSNP:rs16976354).		cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CCTTCAGATAGTTTTCCGTGC	0.562													G|||	311	0.0621006	0.2262	0.0159	5008	,	,		16045	0.0		0.001	False		,,,				2504	0.0				p.N38K		Atlas-SNP	.											.	DYX1C1	54	.	0			c.C114A						PASS	.	G	LYS/ASN,LYS/ASN,LYS/ASN	849,3537	325.3+/-299.0	72,705,1416	45	42	43		114,114,114	-1.6	0.1	15	dbSNP_123	43	0,8582		0,0,4291	yes	missense,missense,missense	DYX1C1	NM_001033559.2,NM_001033560.1,NM_130810.3	94,94,94	72,705,5707	TT,TG,GG		0.0,19.357,6.5469	benign,benign,benign	38/377,38/382,38/421	55790414	849,12119	2193	4291	6484	SO:0001583	missense	161582	exon2			CAGATAGTTTTCC		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.114C>A	15.37:g.55790414G>T	ENSP00000323275:p.Asn38Lys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	132	53	0.401515	NM_001033560	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	103	0.04716117216117216	97	0.19715447154471544	6	0.016574585635359115	0	0.0	0	0.0	G	12.94	2.089312	0.36855	0.19357	0.0	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.82	-1.59	0.08453	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	1.338300	0.05207	U	0.506081	T	0.00012	0.0000	L	0.41573	1.285	0.58432	P	9.000000000036756E-6	B;B;P	0.44044	0.307;0.109;0.825	B;B;B	0.39217	0.117;0.122;0.294	T	0.26224	-1.0109	9	0.07813	T	0.8	.	5.7047	0.17901	0.459:0.2611:0.2799:0.0	rs16976354;rs52829594;rs58871707;rs16976354	38;38;38	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	K	38	ENSP00000403412:N38K;ENSP00000370054:N38K;ENSP00000402640:N38K;ENSP00000323275:N38K;ENSP00000299561:N38K	ENSP00000323275:N38K	N	-	3	2	DYX1C1	53577706	0.085000	0.21516	0.131000	0.22000	0.920000	0.55202	0.021000	0.13489	0.043000	0.15746	0.655000	0.94253	AAC	G|0.928;T|0.072	0.072	strong		0.562	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		T	55790414	G	T	55790414	3	4	22	1	0	0	0	0	1	0	0	0	4862	1020	36	4	1287	4	DYX1C1	15	55790414	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	361	55790414	46740978	7751	12859										
PRTG	283659	hgsc.bcm.edu	37	chr15	55970041	55970041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggcaatgactttgtctgaAttataaagtggcctctccca	8	9	2	2	rs11854213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55970041A>G	ENST00000389286.4	-	8	1382	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTTGTCTGAATTATAAAGTG	0.408													A|||	1210	0.241613	0.298	0.1225	5008	,	,		15648	0.4038		0.0964	False		,,,				2504	0.2321				p.N445N		Atlas-SNP	.											.	PRTG	110	.	0			c.T1335C						PASS	.	A		1026,2692		150,726,983	123	116	118		1335	-0.2	1	15	dbSNP_120	118	786,7406		45,696,3355	no	coding-synonymous	PRTG	NM_173814.4		195,1422,4338	GG,GA,AA		9.5947,27.5955,15.2141		445/1151	55970041	1812,10098	1859	4096	5955	SO:0001819	synonymous_variant	283659	exon8			GTCTGAATTATAA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1335T>C	15.37:g.55970041A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_173814		Silent	SNP	ENST00000389286.4	37	CCDS42040.1																																																																																			A|0.787;G|0.213	0.213	strong		0.408	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		G	55970041	A	G	55970041	2	3	22	1	0	0	0	0	0	0	0	1	12638	98	4	2		2	PRTG	15	55970041	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	179627	55970041	46561351	7752	12860										
PRTG	283659	hgsc.bcm.edu	37	chr15	55972797	55972797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtggacctgctataattgTtggtgtgtggaaggattttg	14	4	0	0	rs16976466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:55972797T>C	ENST00000389286.4	-	5	753	c.706A>G	c.(706-708)Aca>Gca	p.T236A	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCTATAATTGTTGGTGTGTGG	0.353													T|||	1111	0.221845	0.2988	0.1009	5008	,	,		13043	0.3214		0.0974	False		,,,				2504	0.229				p.T236A		Atlas-SNP	.											.	PRTG	110	.	0			c.A706G						PASS	.	T	ALA/THR	1024,2680		152,720,980	172	161	165		706	0.2	0.9	15	dbSNP_123	165	806,7394		42,722,3336	yes	missense	PRTG	NM_173814.4	58	194,1442,4316	CC,CT,TT		9.8293,27.6458,15.373	benign	236/1151	55972797	1830,10074	1852	4100	5952	SO:0001583	missense	283659	exon5			TAATTGTTGGTGT	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.706A>G	15.37:g.55972797T>C	ENSP00000373937:p.Thr236Ala	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	174	173	0.994253	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	423	0.1936813186813187	135	0.27439024390243905	44	0.12154696132596685	170	0.2972027972027972	74	0.09762532981530343	T	10.54	1.379977	0.24944	0.276458	0.098293	ENSG00000166450	ENST00000389286	T	0.66460	-0.21	5.42	0.203	0.15195	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382139	0.28647	N	0.014605	T	0.00012	0.0000	L	0.33753	1.03	0.54753	P	1.8999999999991246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	9	0.12430	T	0.62	-3.5581	6.225	0.20703	0.147:0.4944:0.0:0.3586	rs16976466;rs52831048;rs56497285;rs16976466	236	Q2VWP7	PRTG_HUMAN	A	236	ENSP00000373937:T236A	ENSP00000373937:T236A	T	-	1	0	PRTG	53760089	0.014000	0.17966	0.943000	0.38184	0.750000	0.42670	0.139000	0.16036	0.014000	0.14944	0.377000	0.23210	ACA	C|0.201;N|0.000	0.201	strong		0.353	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		C	55972797	T	C	55972797	3	2	22	1	0	0	0	0	1	0	0	0	12638	1725	60	2	2810	2	PRTG	15	55972797	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2756	55972797	46558595	7753	12861										
NEDD4	4734	hgsc.bcm.edu	37	chr15	56207811	56207811	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatactctgaatcagaatTaagcttaatttctgacattt	4	6	3	3	rs62043855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56207811T>G	ENST00000508342.1	-	1	1518	c.1219A>C	c.(1219-1221)Aat>Cat	p.N407H	NEDD4_ENST00000506154.1_Missense_Mutation_p.N407H|NEDD4_ENST00000338963.2_Missense_Mutation_p.N407H|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	407				N -> H (in Ref. 5; AL832063). {ECO:0000305}.	adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GAATCAGAATTAAGCTTAATT	0.353													T|||	991	0.197883	0.1536	0.1455	5008	,	,		20956	0.3591		0.1541	False		,,,				2504	0.1738				p.N407H		Atlas-SNP	.											.	NEDD4	167	.	0			c.A1219C						PASS	.	T	,HIS/ASN	673,3713	281.6+/-276.1	53,567,1573	61	60	60		,1219	0.3	0	15	dbSNP_129	60	1064,7520	222.9+/-259.8	51,962,3279	yes	intron,missense	NEDD4	NM_006154.2,NM_198400.2	,68	104,1529,4852	GG,GT,TT		12.3952,15.3443,13.3924	,probably-damaging	,407/1248	56207811	1737,11233	2193	4292	6485	SO:0001583	missense	4734	exon1			CAGAATTAAGCTT	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1219A>C	15.37:g.56207811T>G	ENSP00000424827:p.Asn407His	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	209	94	0.449761	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		487|487	0.222985347985348|0.222985347985348	89|89	0.18089430894308944|0.18089430894308944	50|50	0.13812154696132597|0.13812154696132597	216|216	0.3776223776223776|0.3776223776223776	132|132	0.1741424802110818|0.1741424802110818	T|T	14.48|14.48	2.547116|2.547116	0.45383|0.45383	0.153443|0.153443	0.123952|0.123952	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000338963;ENST00000506154	T|T;T;T	0.26373|0.23552	1.74|1.91;1.9;1.91	5.46|5.46	0.326|0.326	0.15908|0.15908	.|.	.|0.765588	.|0.10812	.|N	.|0.631469	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.14012	.|0.009;0.005;0.009	.|B;B;B	.|0.19946	.|0.016;0.007;0.027	T|T	0.38757|0.38757	-0.9646|-0.9646	6|9	0.87932|0.87932	D|D	0|0	.|.	5.6724|5.6724	0.17729|0.17729	0.0:0.1472:0.2813:0.5715|0.0:0.1472:0.2813:0.5715	rs62043855|rs62043855	.|407;407;407	.|P46934-2;P46934;P46934-3	.|.;NEDD4_HUMAN;.	F|H	14|407	ENSP00000422455:L14F|ENSP00000424827:N407H;ENSP00000345530:N407H;ENSP00000422705:N407H	ENSP00000422455:L14F|ENSP00000345530:N407H	L|N	-|-	3|1	2|0	NEDD4|NEDD4	53995103|53995103	0.092000|0.092000	0.21681|0.21681	0.000000|0.000000	0.03702|0.03702	0.971000|0.971000	0.66376|0.66376	0.561000|0.561000	0.23515|0.23515	-0.182000|-0.182000	0.10602|0.10602	0.377000|0.377000	0.23210|0.23210	TTA|AAT	T|0.841;G|0.159	0.159	strong		0.353	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		G	56207811	T	G	56207811	3	3	22	1	0	0	0	0	1	0	0	0	10310	1754	61	5	2840	5	NEDD4	15	56207811	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	235014	56207811	46323581	7754	12862										
NEDD4	4734	hgsc.bcm.edu	37	chr15	56208535	56208535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgacccaaaatcactaccGttgctgctgtaagacccatt	6	13	1	2	rs12440230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56208535G>A	ENST00000508342.1	-	1	794	c.495C>T	c.(493-495)aaC>aaT	p.N165N	NEDD4_ENST00000506154.1_Silent_p.N165N|NEDD4_ENST00000338963.2_Silent_p.N165N|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	165	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AATCACTACCGTTGCTGCTGT	0.418													G|||	990	0.197684	0.1536	0.1455	5008	,	,		22825	0.3591		0.1531	False		,,,				2504	0.1738				p.N165N		Atlas-SNP	.											.	NEDD4	167	.	0			c.C495T						PASS	.	G	,	668,3718	282.8+/-276.7	51,566,1576	143	128	133		,495	-2.1	0.5	15	dbSNP_120	133	1064,7520	223.8+/-260.4	51,962,3279	no	intron,coding-synonymous	NEDD4	NM_006154.2,NM_198400.2	,	102,1528,4855	AA,AG,GG		12.3952,15.2303,13.3539	,	,165/1248	56208535	1732,11238	2193	4292	6485	SO:0001819	synonymous_variant	4734	exon1			ACTACCGTTGCTG	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.495C>T	15.37:g.56208535G>A		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	225	101	0.448889	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37																																																																																				G|0.846;A|0.154	0.154	strong		0.418	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		A	56208535	G	A	56208535	2	1	22	1	0	0	0	0	0	0	0	1	10310	1136	40	1		1	NEDD4	15	56208535	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	724	56208535	46322857	7755	12863										
RFX7	64864	hgsc.bcm.edu	37	chr15	56387142	56387142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaagtgggtgctggaagtGtgagatgacattggagctcc	16	5	0	3	rs34361729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56387142G>A	ENST00000559447.2	-	9	2764	c.2493C>T	c.(2491-2493)caC>caT	p.H831H	RFX7_ENST00000422057.1_Silent_p.H831H|RFX7_ENST00000317318.6_Silent_p.H928H|RFX7_ENST00000423270.1_Silent_p.H928H			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	831					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGAAGTGTGAGATGACA	0.502													G|||	617	0.123203	0.1051	0.0836	5008	,	,		18677	0.1002		0.1491	False		,,,				2504	0.1728				p.H928H		Atlas-SNP	.											RFX7_ENST00000423270,NS,carcinoma,-1,2	RFX7	170	2	0			c.C2784T						PASS	.	G		387,3783		24,339,1722	104	113	110		2784	-6.1	0.1	15	dbSNP_126	110	1122,7304		78,966,3169	no	coding-synonymous	RFX7	NM_022841.5		102,1305,4891	AA,AG,GG		13.3159,9.2806,11.98		928/1461	56387142	1509,11087	2085	4213	6298	SO:0001819	synonymous_variant	64864	exon9			GGAAGTGTGAGAT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2493C>T	15.37:g.56387142G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	98	56	0.571429	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																				G|0.879;A|0.121	0.121	strong		0.502	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		A	56387142	G	A	56387142	2	1	22	1	0	0	0	0	0	0	0	1	13268	1368	48	2		2	RFX7	15	56387142	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	178607	56387142	46144250	7756	12864										
RFX7	64864	hgsc.bcm.edu	37	chr15	56387421	56387421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcctgtatctggctatgTagctgctggctatatgtgtc	11	8	1	0	rs34255389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56387421T>C	ENST00000559447.2	-	9	2485	c.2214A>G	c.(2212-2214)ctA>ctG	p.L738L	RFX7_ENST00000422057.1_Silent_p.L738L|RFX7_ENST00000317318.6_Silent_p.L835L|RFX7_ENST00000423270.1_Silent_p.L835L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	738					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCTGGCTATGTAGCTGCTGGC	0.393													T|||	16	0.00319489	0.0113	0.0014	5008	,	,		20635	0.0		0.0	False		,,,				2504	0.0				p.L835L		Atlas-SNP	.											.	RFX7	170	.	0			c.A2505G						PASS	.	T		40,3758		0,40,1859	115	113	114		2505	-10.9	0	15	dbSNP_126	114	0,8254		0,0,4127	no	coding-synonymous	RFX7	NM_022841.5		0,40,5986	CC,CT,TT		0.0,1.0532,0.3319		835/1461	56387421	40,12012	1899	4127	6026	SO:0001819	synonymous_variant	64864	exon9			GCTATGTAGCTGC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2214A>G	15.37:g.56387421T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	172	82	0.476744	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																				T|0.996;C|0.004	0.004	strong		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		C	56387421	T	C	56387421	2	2	22	1	0	0	0	0	0	0	0	1	13268	1625	57	2		2	RFX7	15	56387421	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	279	56387421	46143971	7757	12865										
RFX7	64864	hgsc.bcm.edu	37	chr15	56387581	56387581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctttagtgatttgttgcCatccatttggattaaagctg	8	6	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56387581C>T	ENST00000559447.2	-	9	2325	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.W782*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.W685*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.W782*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	685					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W685*(1)|p.W782*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATTTGTTGCCATCCATTTGG	0.378																																					p.W782X		Atlas-SNP	.											RFX7_ENST00000423270,NS,lymphoid_neoplasm,0,2	RFX7	170	2	2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G2345A						PASS	.						124	116	118					15																	56387581		1850	4096	5946	SO:0001587	stop_gained	64864	exon9			TGTTGCCATCCAT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2054G>A	15.37:g.56387581C>T	ENSP00000453281:p.Trp685*	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	95	27	0.284211	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	C	30	5.054224	0.93793	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.44	4.32	0.51571	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-4.9265	14.1694	0.65500	0.0:0.9149:0.0:0.0851	.	.	.	.	X	685;782;782	.	ENSP00000313299:W782X	W	-	2	0	RFX7	54174873	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.485000	0.66850	2.531000	0.85337	0.563000	0.77884	TGG	.	.	none		0.378	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		T	56387581	C	T	56387581	4	4	22	1	0	0	0	0	0	1	0	0	13268	595	21	2	2041	2	RFX7	15	56387581	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	160	56387581	46143811	7758	12866										
RFX7	64864	hgsc.bcm.edu	37	chr15	56387859	56387859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttcttaacactgccttgTttctgcccttctatggtagc	6	13	3	0	rs3803459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56387859T>C	ENST00000559447.2	-	9	2047	c.1776A>G	c.(1774-1776)aaA>aaG	p.K592K	RFX7_ENST00000317318.6_Silent_p.K689K|RFX7_ENST00000422057.1_Silent_p.K592K|RFX7_ENST00000423270.1_Silent_p.K689K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	592					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACTGCCTTGTTTCTGCCCTT	0.453													T|||	1140	0.227636	0.0635	0.1513	5008	,	,		22128	0.494		0.1123	False		,,,				2504	0.3476				p.K689K		Atlas-SNP	.											.	RFX7	170	.	0			c.A2067G						PASS	.	T		330,3478		13,304,1587	121	112	115		2067	2.1	1	15	dbSNP_107	115	1063,7185		72,919,3133	no	coding-synonymous	RFX7	NM_022841.5		85,1223,4720	CC,CT,TT		12.888,8.666,11.5544		689/1461	56387859	1393,10663	1904	4124	6028	SO:0001819	synonymous_variant	64864	exon9			GCCTTGTTTCTGC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1776A>G	15.37:g.56387859T>C		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	254	102	0.401575	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																				T|0.799;C|0.201	0.201	strong		0.453	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		C	56387859	T	C	56387859	2	2	22	1	0	0	0	0	0	0	0	1	13268	1722	60	2		2	RFX7	15	56387859	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	278	56387859	46143533	7759	12867										
RFX7	64864	hgsc.bcm.edu	37	chr15	56388033	56388033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgctgctggtgaaagtTaagttctgagaagcaactga	13	6	1	3	rs12439907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56388033T>C	ENST00000559447.2	-	9	1873	c.1602A>G	c.(1600-1602)ttA>ttG	p.L534L	RFX7_ENST00000317318.6_Silent_p.L631L|RFX7_ENST00000422057.1_Silent_p.L534L|RFX7_ENST00000423270.1_Silent_p.L631L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	534					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGTGAAAGTTAAGTTCTGAG	0.418													T|||	1364	0.272364	0.0794	0.2767	5008	,	,		23220	0.5		0.1968	False		,,,				2504	0.3732				p.L631L		Atlas-SNP	.											.	RFX7	170	.	0			c.A1893G						PASS	.	T		459,3521		27,405,1558	81	79	79		1893	0.1	1	15	dbSNP_120	79	1733,6607		179,1375,2616	no	coding-synonymous	RFX7	NM_022841.5		206,1780,4174	CC,CT,TT		20.7794,11.5327,17.7922		631/1461	56388033	2192,10128	1990	4170	6160	SO:0001819	synonymous_variant	64864	exon9			GAAAGTTAAGTTC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1602A>G	15.37:g.56388033T>C		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																				T|0.747;C|0.253	0.253	strong		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		C	56388033	T	C	56388033	2	2	22	1	0	0	0	0	0	0	0	1	13268	1751	61	2		2	RFX7	15	56388033	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	174	56388033	46143359	7760	12868										
MNS1	55329	hgsc.bcm.edu	37	chr15	56735674	56735674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgttcttcctggtataatTcttgtcgcacttgttccaaa	6	10	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56735674T>C	ENST00000260453.3	-	7	1129	c.965A>G	c.(964-966)gAa>gGa	p.E322G	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	322	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTGGTATAATTCTTGTCGCAC	0.294																																					p.E322G		Atlas-SNP	.											MNS1,colon,carcinoma,-1,1	MNS1	39	1	0			c.A965G						scavenged	.						132	125	128					15																	56735674		2192	4291	6483	SO:0001583	missense	55329	exon7			TATAATTCTTGTC	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.965A>G	15.37:g.56735674T>C	ENSP00000260453:p.Glu322Gly	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	108	2	0.0185185	NM_018365	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772713	0.90108	.	.	ENSG00000138587	ENST00000260453	T	0.11169	2.8	5.76	5.76	0.90799	.	0.045312	0.85682	D	0.000000	T	0.32734	0.0839	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.63113	0.911	T	0.08066	-1.0740	10	0.72032	D	0.01	-24.5326	13.8137	0.63278	0.0:0.0:0.0:1.0	.	322	Q8NEH6	MNS1_HUMAN	G	322	ENSP00000260453:E322G	ENSP00000260453:E322G	E	-	2	0	MNS1	54522966	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	6.843000	0.75384	2.175000	0.68902	0.519000	0.50382	GAA	.	.	none		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		C	56735674	T	C	56735674	3	2	22	1	0	0	0	0	1	0	0	0	9677	1783	62	2	538	2	MNS1	15	56735674	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	347641	56735674	45795718	7761	12869										
ZNF280D	54816	hgsc.bcm.edu	37	chr15	56959028	56959028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacttgcgttggatttgaCtgtattaggtttacttgtat	9	4	0	1	rs28620278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:56959028C>T	ENST00000267807.7	-	15	1918	c.1702G>A	c.(1702-1704)Gtc>Atc	p.V568I	ZNF280D_ENST00000396245.1_Missense_Mutation_p.V272I|ZNF280D_ENST00000559237.1_Missense_Mutation_p.V555I|ZNF280D_ENST00000559000.1_Missense_Mutation_p.V555I	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	568			V -> I (in dbSNP:rs28620278). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		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(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGGATTTGACTGTATTAGGT	0.333													T|||	2640	0.527157	0.7141	0.6225	5008	,	,		15602	0.3829		0.4066	False		,,,				2504	0.4796				p.V568I		Atlas-SNP	.											.	ZNF280D	82	.	0			c.G1702A						PASS	.	T	ILE/VAL,ILE/VAL	2803,1581	486.2+/-360.5	917,969,306	139	145	143		1663,1702	-0.9	0	15	dbSNP_125	143	3481,5103	631.5+/-398.5	697,2087,1508	yes	missense,missense	ZNF280D	NM_001002843.1,NM_017661.2	29,29	1614,3056,1814	TT,TC,CC		40.5522,36.063,48.4577	benign,benign	555/967,568/980	56959028	6284,6684	2192	4292	6484	SO:0001583	missense	54816	exon15			ATTTGACTGTATT	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1702G>A	15.37:g.56959028C>T	ENSP00000267807:p.Val568Ile	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	327	182	0.556575	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	1099	0.5032051282051282	370	0.7520325203252033	214	0.5911602209944752	225	0.39335664335664333	290	0.38258575197889183	T	1.441	-0.567698	0.03910	0.63937	0.405522	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03004	4.08;4.5	4.58	-0.931	0.10438	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.05305	-1.0893	8	0.17832	T	0.49	0.0847	6.768	0.23579	0.0:0.4082:0.1329:0.459	rs28620278;rs28620278	568	Q6N043	Z280D_HUMAN	I	568;555;272	ENSP00000267807:V568I;ENSP00000379545:V272I	ENSP00000267807:V568I	V	-	1	0	ZNF280D	54746320	0.059000	0.20769	0.018000	0.16275	0.511000	0.34104	-0.286000	0.08399	-0.282000	0.09128	-0.332000	0.08345	GTC	C|0.495;T|0.505	0.505	strong		0.333	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		T	56959028	C	T	56959028	3	4	22	1	0	0	0	0	1	0	0	0	17814	565	20	2	1269	2	ZNF280D	15	56959028	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	223354	56959028	45572364	7762	12870										
TCF12	6938	hgsc.bcm.edu	37	chr15	57384061	57384061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccatgaaggcttgtccccAacacctttcatgaactcaaa	6	14	2	2	rs34560099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:57384061A>G	ENST00000267811.5	+	5	601	c.297A>G	c.(295-297)ccA>ccG	p.P99P	TCF12_ENST00000557843.1_Silent_p.P99P|TCF12_ENST00000333725.5_Silent_p.P99P|TCF12_ENST00000452095.2_Silent_p.P95P|TCF12_ENST00000438423.2_Silent_p.P99P	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	99					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTTGTCCCCAACACCTTTCA	0.423			T	TEC	extraskeletal myxoid chondrosarcoma								A|||	237	0.0473243	0.1626	0.0216	5008	,	,		18239	0.0		0.007	False		,,,				2504	0.0				p.P99P		Atlas-SNP	.		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	.	TCF12	242	.	0			c.A297G						PASS	.	A	,,,	551,3833	247.8+/-255.9	35,481,1676	109	107	108		297,297,297,297	4.6	1	15	dbSNP_126	108	37,8547	25.1+/-72.6	1,35,4256	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TCF12	NM_003205.3,NM_207036.1,NM_207037.1,NM_207038.1	,,,	36,516,5932	GG,GA,AA		0.431,12.5684,4.5342	,,,	99/683,99/707,99/707,99/683	57384061	588,12380	2192	4292	6484	SO:0001819	synonymous_variant	6938	exon5			GTCCCCAACACCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.297A>G	15.37:g.57384061A>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	91	33	0.362637	NM_207036	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																			A|0.959;G|0.041	0.041	strong		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		G	57384061	A	G	57384061	2	3	22	1	0	0	0	0	0	0	0	1	15684	117	5	2		2	TCF12	15	57384061	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	425033	57384061	45147331	7763	12871										
CGNL1	84952	hgsc.bcm.edu	37	chr15	57839587	57839587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagtaaagtgctggatgacAtggatgacgacgatgacctc	13	8	0	3	rs16977594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:57839587A>G	ENST00000281282.5	+	19	3886	c.3808A>G	c.(3808-3810)Atg>Gtg	p.M1270V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1270	Poly-Asp.|Tail.		M -> V (in dbSNP:rs16977594).			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.M1270V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTGGATGACATGGATGACGA	0.557													A|||	531	0.10603	0.2753	0.0274	5008	,	,		19217	0.0308		0.0159	False		,,,				2504	0.1033				p.M1270V		Atlas-SNP	.											CGNL1,NS,carcinoma,0,1	CGNL1	125	1	1	Substitution - Missense(1)	stomach(1)	c.A3808G						PASS	.	A	VAL/MET	950,3434	360.1+/-315.1	108,734,1350	157	163	161		3808	-5.2	0.5	15	dbSNP_123	161	138,8446	69.0+/-131.5	3,132,4157	yes	missense	CGNL1	NM_032866.3	21	111,866,5507	GG,GA,AA		1.6076,21.6697,8.3899	benign	1270/1303	57839587	1088,11880	2192	4292	6484	SO:0001583	missense	84952	exon19			GATGACATGGATG	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3808A>G	15.37:g.57839587A>G	ENSP00000281282:p.Met1270Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	169	0.07738095238095238	133	0.2703252032520325	11	0.03038674033149171	15	0.026223776223776224	10	0.013192612137203167	A	4.077	0.012131	0.07912	0.216697	0.016076	ENSG00000128849	ENST00000281282	T	0.75154	-0.91	4.79	-5.17	0.02849	.	0.693382	0.13085	N	0.415016	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12066	-1.0562	9	0.40728	T	0.16	-4.3624	3.2421	0.06784	0.1762:0.1697:0.4551:0.199	rs16977594;rs52812772;rs56614646;rs61651064;rs16977594	1270	Q0VF96	CGNL1_HUMAN	V	1270	ENSP00000281282:M1270V	ENSP00000281282:M1270V	M	+	1	0	CGNL1	55626879	0.000000	0.05858	0.539000	0.28077	0.406000	0.30931	-0.660000	0.05317	-0.788000	0.04504	0.379000	0.24179	ATG	A|0.914;G|0.086	0.086	strong		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		G	57839587	A	G	57839587	3	3	22	1	0	0	0	0	1	0	0	0	3304	217	8	2	3878	2	CGNL1	15	57839587	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	455526	57839587	44691805	7764	12872										
GCOM1	100820829	hgsc.bcm.edu	37	chr15	57925873	57925873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaagatgcaagcagcagaGatcagcctagaggagaaaga	12	6	1	5	rs148672365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:57925873G>C	ENST00000267853.5	+	8	961	c.867G>C	c.(865-867)gaG>gaC	p.E289D	GCOM1_ENST00000380569.2_Missense_Mutation_p.E289D|GCOM1_ENST00000587652.1_Missense_Mutation_p.E289D|GCOM1_ENST00000380561.2_Missense_Mutation_p.E258D|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E289D|GCOM1_ENST00000572390.1_Missense_Mutation_p.E289D|GCOM1_ENST00000396180.1_Missense_Mutation_p.E258D|GCOM1_ENST00000380568.3_Missense_Mutation_p.E289D|GCOM1_ENST00000380560.2_Missense_Mutation_p.E220D|GCOM1_ENST00000574161.1_Missense_Mutation_p.E289D			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	289					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AAGCAGCAGAGATCAGCCTAG	0.478													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		18055	0.0		0.0	False		,,,				2504	0.0				p.E289D		Atlas-SNP	.											.	GCOM1	66	.	0			c.G867C						PASS	.	G	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	70,4314	64.7+/-102.0	0,70,2122	128	127	128		867,867,867,867	3.5	1	15	dbSNP_134	128	0,8584		0,0,4292	yes	missense,missense,missense,missense	GCOM1	NM_001018090.3,NM_001018091.3,NM_001018100.3,NM_152451.6	45,45,45,45	0,70,6414	CC,CG,GG		0.0,1.5967,0.5398	probably-damaging,probably-damaging,probably-damaging,probably-damaging	289/551,289/446,289/467,289/439	57925873	70,12898	2192	4292	6484	SO:0001583	missense	145781	exon8			AGCAGAGATCAGC	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.867G>C	15.37:g.57925873G>C	ENSP00000267853:p.Glu289Asp	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	162	79	0.487654	NM_001018090	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	18.62	3.663734	0.67700	0.015967	0.0	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.68	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.995;0.993;0.995;0.998	T	0.51911	-0.8645	10	0.62326	D	0.03	-34.0747	12.4064	0.55443	0.1663:0.0:0.8337:0.0	.	289;289;289;289	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	D	289;258;258;220;289;289;289;4	ENSP00000369943:E289D;ENSP00000369935:E258D;ENSP00000379483:E258D;ENSP00000369933:E220D;ENSP00000267853:E289D;ENSP00000369939:E289D;ENSP00000369942:E289D;ENSP00000431396:E4D	ENSP00000267853:E289D	E	+	3	2	GCOM1	55713165	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	1.551000	0.36233	1.394000	0.46624	0.563000	0.77884	GAG	G|0.994;C|0.006	0.006	strong		0.478	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		C	57925873	G	C	57925873	3	2	22	1	0	0	0	0	1	0	0	0	6304	933	33	4	897	4	GCOM1	15	57925873	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86286	57925873	44605519	7765	12873										
LIPC	3990	hgsc.bcm.edu	37	chr15	58833993	58833993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcctcaggtggacggcGtgctagaaaactggatctgg	13	12	2	1	rs6078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:58833993G>A	ENST00000356113.6	+	5	898	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	LIPC_ENST00000299022.5_Missense_Mutation_p.V95M|LIPC_ENST00000414170.3_Missense_Mutation_p.V95M|LIPC_ENST00000433326.2_Intron			P11150	LIPC_HUMAN	lipase, hepatic	95			V -> M (in dbSNP:rs6078). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:12966036}.		cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GGTGGACGGCGTGCTAGAAAA	0.612													A|||	622	0.124201	0.0787	0.0562	5008	,	,		16230	0.3284		0.0348	False		,,,				2504	0.1155				p.V95M		Atlas-SNP	.											.	LIPC	56	.	0			c.G283A	GRCh37	CM004612	LIPC	M	rs6078	PASS	.	A	MET/VAL	327,4057	786.6+/-414.8	10,307,1875	37	46	43		283	-9.2	0	15	dbSNP_52	43	239,8345	802.7+/-407.3	4,231,4057	yes	missense	LIPC	NM_000236.2	21	14,538,5932	AA,AG,GG		2.7842,7.4589,4.3646	benign	95/500	58833993	566,12402	2192	4292	6484	SO:0001583	missense	3990	exon3			GACGGCGTGCTAG		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.283G>A	15.37:g.58833993G>A	ENSP00000348425:p.Val95Met	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	23	0.418182	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	248	0.11355311355311355	42	0.08536585365853659	17	0.04696132596685083	169	0.29545454545454547	20	0.026385224274406333	A	0.001	-3.862964	0.00003	0.074589	0.027842	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.90844	-2.74;-2.74;-2.74	4.6	-9.2	0.00682	Lipase, N-terminal (1);	1.503030	0.03930	N	0.285141	T	0.00012	0.0000	N	0.00605	-1.335	0.80722	P	0.0	B	0.25272	0.122	B	0.14023	0.01	T	0.40776	-0.9545	9	0.02654	T	1	.	3.3549	0.07165	0.4972:0.0701:0.1608:0.272	rs6078;rs17301836;rs6078	95	P11150	LIPC_HUMAN	M	95	ENSP00000348425:V95M;ENSP00000395569:V95M;ENSP00000299022:V95M	ENSP00000299022:V95M	V	+	1	0	LIPC	56621285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.112000	0.03299	-7.950000	0.00000	-4.297000	0.00007	GTG	G|0.926;A|0.074	0.074	strong		0.612	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			A	58833993	G	A	58833993	3	1	22	1	0	0	0	0	1	0	0	0	8820	1145	40	1	293	1	LIPC	15	58833993	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	908120	58833993	43697399	7766	12874										
SLTM	79811	hgsc.bcm.edu	37	chr15	59179264	59179264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacgattcccagggggagcGcctctcacactgtgccctga	11	15	1	1	rs2124203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:59179264G>A	ENST00000380516.2	-	19	2832	c.2745C>T	c.(2743-2745)ggC>ggT	p.G915G	SLTM_ENST00000536328.1_Silent_p.G484G|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	915					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGGGGAGCGCCTCTCACAC	0.502													G|||	270	0.0539137	0.0893	0.0519	5008	,	,		17402	0.0139		0.0567	False		,,,				2504	0.046				p.G915G		Atlas-SNP	.											SLTM,colon,carcinoma,0,1	SLTM	90	1	0			c.C2745T						PASS	.	G	,	374,4010	189.5+/-215.6	16,342,1834	89	75	80		2691,2745	-11.1	0	15	dbSNP_96	80	565,8019	153.3+/-207.7	22,521,3749	no	coding-synonymous,coding-synonymous	SLTM	NM_001013843.1,NM_024755.2	,	38,863,5583	AA,AG,GG		6.582,8.531,7.2409	,	897/1017,915/1035	59179264	939,12029	2192	4292	6484	SO:0001819	synonymous_variant	79811	exon19			GGGAGCGCCTCTC	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2745C>T	15.37:g.59179264G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	117	58	0.495726	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																			G|0.937;A|0.063	0.063	strong		0.502	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		A	59179264	G	A	59179264	2	1	22	1	0	0	0	0	0	0	0	1	14754	1074	38	1		1	SLTM	15	59179264	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	345271	59179264	43352128	7767	12875										
RNF111	54778	hgsc.bcm.edu	37	chr15	59368167	59368167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctagcaggcattgccagtGgacctgagcaacagtggtat	12	9	1	1	rs7178935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:59368167G>A	ENST00000557998.1	+	7	1988	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	RNF111_ENST00000348370.4_Silent_p.V567V|RNF111_ENST00000559209.1_Silent_p.V567V|RNF111_ENST00000561186.1_Silent_p.V567V|RNF111_ENST00000434298.1_Silent_p.V567V	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	567					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)		CATTGCCAGTGGACCTGAGCA	0.393													A|||	2135	0.426318	0.6589	0.451	5008	,	,		16474	0.4563		0.2634	False		,,,				2504	0.2311				p.V567V	NSCLC(72;983 1365 10746 34387 47081)	Atlas-SNP	.											.	RNF111	179	.	0			c.G1701A						PASS	.	A		2650,1734	518.8+/-369.8	824,1002,366	84	74	77		1701	-1.7	1	15	dbSNP_116	77	2367,6215	699.6+/-405.1	348,1671,2272	no	coding-synonymous	RNF111	NM_017610.6		1172,2673,2638	AA,AG,GG		27.581,39.5529,38.6935		567/987	59368167	5017,7949	2192	4291	6483	SO:0001819	synonymous_variant	54778	exon7			GCCAGTGGACCTG	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.1701G>A	15.37:g.59368167G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																			G|0.595;A|0.405	0.405	strong		0.393	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		A	59368167	G	A	59368167	2	1	22	1	0	0	0	0	0	0	0	1	13425	1335	47	2		2	RNF111	15	59368167	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	188903	59368167	43163225	7768	12876										
CCNB2	9133	hgsc.bcm.edu	37	chr15	59406674	59406674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacctgaggatgtctccaTgaaggaagagaatctctgcc	10	11	2	3	rs16941036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:59406674T>C	ENST00000288207.2	+	4	490	c.299T>C	c.(298-300)aTg>aCg	p.M100T	CCNB2_ENST00000559622.1_Missense_Mutation_p.M19T	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	100			M -> T (in dbSNP:rs16941036). {ECO:0000269|Ref.5}.		G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						GATGTCTCCATGAAGGAAGAG	0.473													T|||	17	0.00339457	0.0121	0.0014	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.0				p.M100T		Atlas-SNP	.											.	CCNB2	23	.	0			c.T299C						PASS	.	T	THR/MET	72,4310	64.1+/-101.4	0,72,2119	92	85	87		299	4.2	1	15	dbSNP_123	87	1,8581	1.2+/-3.3	0,1,4290	yes	missense	CCNB2	NM_004701.3	81	0,73,6409	CC,CT,TT		0.0117,1.6431,0.5631	benign	100/399	59406674	73,12891	2191	4291	6482	SO:0001583	missense	9133	exon4			TCTCCATGAAGGA	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.299T>C	15.37:g.59406674T>C	ENSP00000288207:p.Met100Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_004701	B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	T	8.119	0.780523	0.16120	0.016431	1.17E-4	ENSG00000157456	ENST00000288207	T	0.13538	2.58	5.3	4.17	0.49024	.	0.590246	0.19354	N	0.116311	T	0.08133	0.0203	M	0.75777	2.31	0.43457	D	0.995659	B;B	0.19935	0.017;0.04	B;B	0.20384	0.029;0.029	T	0.03524	-1.1028	10	0.13853	T	0.58	.	10.3592	0.43982	0.0:0.0774:0.0:0.9226	rs16941036;rs52827002;rs16941036	100;100	Q53HG9;O95067	.;CCNB2_HUMAN	T	100	ENSP00000288207:M100T	ENSP00000288207:M100T	M	+	2	0	CCNB2	57193966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.612000	0.46343	0.862000	0.35528	0.459000	0.35465	ATG	T|0.994;C|0.006	0.006	strong		0.473	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		C	59406674	T	C	59406674	3	2	22	1	0	0	0	0	1	0	0	0	2913	1464	51	2	313	2	CCNB2	15	59406674	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38507	59406674	43124718	7769	12877										
LDHAL6B	92483	hgsc.bcm.edu	37	chr15	59500117	59500117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccagtttccaccataatTaagggcctctatggaataga	7	10	1	1	rs61753957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:59500117T>C	ENST00000307144.4	+	1	1076	c.978T>C	c.(976-978)atT>atC	p.I326I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	326			I -> T (in dbSNP:rs3825937). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CCACCATAATTAAGGGCCTCT	0.398													T|||	529	0.105631	0.2216	0.0865	5008	,	,		19286	0.0397		0.0517	False		,,,				2504	0.0859				p.I326I		Atlas-SNP	.											.	LDHAL6B	30	.	0			c.T978C						PASS	.	T	,	786,3596	294.4+/-283.1	67,652,1472	80	86	84		,978	1.5	1	15	dbSNP_129	84	502,8074	140.9+/-197.4	17,468,3803	no	intron,coding-synonymous	MYO1E,LDHAL6B	NM_004998.2,NM_033195.1	,	84,1120,5275	CC,CT,TT		5.8535,17.937,9.9398	,	,326/382	59500117	1288,11670	2191	4288	6479	SO:0001819	synonymous_variant	92483	exon1			CATAATTAAGGGC	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.978T>C	15.37:g.59500117T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	127	63	0.496063	NM_033195	Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	CCDS10171.1																																																																																			T|0.912;C|0.088	0.088	strong		0.398	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		C	59500117	T	C	59500117	2	2	22	1	0	0	0	0	0	0	0	1	8700	1742	61	2		2	LDHAL6B	15	59500117	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93443	59500117	43031275	7770	12878										
LDHAL6B	92483	hgsc.bcm.edu	37	chr15	59500255	59500255	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaaaagtgcaaaaacactCtgggaaattcagaataagct	7	6	2	1	rs61740133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:59500255C>T	ENST00000307144.4	+	1	1214	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	372					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CAAAAACACTCTGGGAAATTC	0.358													T|||	529	0.105631	0.2216	0.0865	5008	,	,		18846	0.0397		0.0517	False		,,,				2504	0.0859				p.L372L		Atlas-SNP	.											.	LDHAL6B	30	.	0			c.C1116T						PASS	.	T	,	691,3509		54,583,1463	47	53	51		,1116	1.5	0.1	15	dbSNP_129	51	468,8016		15,438,3789	no	intron,coding-synonymous	MYO1E,LDHAL6B	NM_004998.2,NM_033195.1	,	69,1021,5252	TT,TC,CC		5.5163,16.4524,9.1375	,	,372/382	59500255	1159,11525	2100	4242	6342	SO:0001819	synonymous_variant	92483	exon1			AACACTCTGGGAA	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.1116C>T	15.37:g.59500255C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	79	33	0.417722	NM_033195	Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	CCDS10171.1																																																																																			C|0.923;T|0.077	0.077	strong		0.358	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		T	59500255	C	T	59500255	2	4	22	1	0	0	0	0	0	0	0	1	8700	900	32	2		2	LDHAL6B	15	59500255	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138	59500255	43031137	7771	12879										
ANXA2	302	hgsc.bcm.edu	37	chr15	60690089	60690089	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttcttcccagcgtctccAcaccccgctagctggcggcc	8	21	2	0	rs12904657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:60690089A>G	ENST00000396024.3	-	1	44				ANXA2_ENST00000421017.2_Intron|ANXA2_ENST00000557937.1_Intron|ANXA2_ENST00000451270.2_Intron|ANXA2_ENST00000332680.4_Silent_p.C8C	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2						angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.C8C(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CAGCGTCTCCACACCCCGCTA	0.741													g|||	3978	0.794329	0.7859	0.7752	5008	,	,		7804	0.9087		0.7187	False		,,,				2504	0.7791				p.C8C		Atlas-SNP	.											ANXA2,rectum,carcinoma,0,1	ANXA2	28	1	1	Substitution - coding silent(1)	prostate(1)	c.T24C						scavenged	.		,,,	3229,943		1289,651,146	5	7	6		,24,,	-5.9	0	15	dbSNP_121	6	5975,2181		2248,1479,351	no	intron,coding-synonymous,intron,intron	ANXA2	NM_001002857.1,NM_001002858.2,NM_001136015.2,NM_004039.2	,,,	3537,2130,497	GG,GA,AA		26.741,22.6031,25.3407	,,,	,8/358,,	60690089	9204,3124	2086	4078	6164	SO:0001627	intron_variant	302	exon1			GTCTCCACACCCC	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.115+52T>C	15.37:g.60690089A>G		Somatic	11	1	0.0909091		WXS	Illumina HiSeq	Phase_I	15	4	0.266667	NM_001002858	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Silent	SNP	ENST00000396024.3	37	CCDS10175.1																																																																																			A|0.203;G|0.797	0.797	strong		0.741	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		G	60690089	A	G	60690089	1	3	22	0	1	0	0	0	0	0	0	0	718	157	6	2		2	ANXA2	15	60690089	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1189834	60690089	41841303	7772	12880										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62212781	62212781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaatatgaattgccatTtgtggctcaggaataaaatc	9	5	1	2	rs17238189	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:62212781T>C	ENST00000261517.5	-	56	7201	c.7128A>G	c.(7126-7128)caA>caG	p.Q2376Q	VPS13C_ENST00000395898.3_Silent_p.Q2333Q|VPS13C_ENST00000249837.3_Silent_p.Q2333Q|VPS13C_ENST00000395896.4_Silent_p.Q2376Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATTGCCATTTGTGGCTCAG	0.303													T|||	603	0.120407	0.093	0.2046	5008	,	,		16094	0.2054		0.0249	False		,,,				2504	0.1084				p.Q2376Q		Atlas-SNP	.											.	VPS13C	506	.	0			c.A7128G						PASS	.	T	,,,	431,3975	199.8+/-223.2	25,381,1797	63	67	65		7128,6999,6999,7128	2.2	1	15	dbSNP_123	65	189,8397	81.2+/-143.8	3,183,4107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	,,,	28,564,5904	CC,CT,TT		2.2013,9.7821,4.7722	,,,	2376/3629,2333/3711,2333/3586,2376/3754	62212781	620,12372	2203	4293	6496	SO:0001819	synonymous_variant	54832	exon56			TGCCATTTGTGGC	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7128A>G	15.37:g.62212781T>C		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	237	112	0.472574	NM_020821		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																			T|0.930;C|0.070	0.070	strong		0.303	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62212781	T	C	62212781	2	2	22	1	0	0	0	0	0	0	0	1	17188	1838	64	2		2	VPS13C	15	62212781	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1522692	62212781	40318611	7773	12881										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62226423	62226423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatgtattacatacctggtTgatatcattgttataaagga	7	4	1	1	rs112236709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:62226423T>G	ENST00000261517.5	-	49	5936	c.5863A>C	c.(5863-5865)Aac>Cac	p.N1955H	VPS13C_ENST00000395898.3_Missense_Mutation_p.N1912H|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1955H|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1912H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATACCTGGTTGATATCATTG	0.328													T|||	209	0.0417332	0.0408	0.0086	5008	,	,		12683	0.0605		0.0089	False		,,,				2504	0.0808				p.N1955H		Atlas-SNP	.											.	VPS13C	506	.	0			c.A5863C						PASS	.	T	HIS/ASN,HIS/ASN,HIS/ASN,HIS/ASN	128,4278	87.8+/-126.4	0,128,2075	97	107	103		5863,5734,5734,5863	1.5	0	15	dbSNP_132	103	68,8524	36.9+/-92.0	1,66,4229	yes	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	68,68,68,68	1,194,6304	GG,GT,TT		0.7914,2.9051,1.5079	benign,benign,benign,benign	1955/3629,1912/3711,1912/3586,1955/3754	62226423	196,12802	2203	4296	6499	SO:0001583	missense	54832	exon49			CCTGGTTGATATC	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5863A>C	15.37:g.62226423T>G	ENSP00000261517:p.Asn1955His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	137	59	0.430657	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	63	0.028846153846153848	21	0.042682926829268296	4	0.011049723756906077	30	0.05244755244755245	8	0.010554089709762533	T	4.042	0.005477	0.07866	0.029051	0.007914	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46063	0.88;0.88;1.06	5.19	1.47	0.22746	.	0.405845	0.28706	N	0.014407	T	0.04861	0.0131	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.12156	0.007;0.007;0.005;0.002	T	0.10291	-1.0636	10	0.39692	T	0.17	.	2.3492	0.04279	0.125:0.1424:0.1302:0.6024	.	1912;1955;1912;1955	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	1912;1955;1955;1955	ENSP00000249837:N1912H;ENSP00000261517:N1955H;ENSP00000379233:N1955H	ENSP00000249837:N1912H	N	-	1	0	VPS13C	60013715	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.892000	0.28322	-0.021000	0.14009	0.528000	0.53228	AAC	T|0.980;G|0.020	0.020	strong		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		G	62226423	T	G	62226423	3	3	22	1	0	0	0	0	1	0	0	0	17188	1812	63	5	5574	5	VPS13C	15	62226423	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13642	62226423	40304969	7774	12882										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62259637	62259637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcaagtgaaggggcttcCttttggatcctagattaaag	10	6	1	2	rs3784634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:62259637C>T	ENST00000261517.5	-	29	2994	c.2921G>A	c.(2920-2922)aGg>aAg	p.R974K	VPS13C_ENST00000395898.3_Missense_Mutation_p.R931K|VPS13C_ENST00000395896.4_Missense_Mutation_p.R974K|VPS13C_ENST00000249837.3_Missense_Mutation_p.R931K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGGCTTCCTTTTGGATCC	0.269													T|||	3783	0.755391	0.9228	0.6052	5008	,	,		15751	0.8542		0.5636	False		,,,				2504	0.7311				p.R974K		Atlas-SNP	.											.	VPS13C	506	.	0			c.G2921A						PASS	.	T	LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG	3738,664		1600,538,63	53	61	58		2921,2792,2792,2921	1.6	1	15	dbSNP_107	58	4936,3652		1449,2038,807	yes	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	26,26,26,26	3049,2576,870	TT,TC,CC		42.5245,15.0841,33.2256	benign,benign,benign,benign	974/3629,931/3711,931/3586,974/3754	62259637	8674,4316	2201	4294	6495	SO:0001583	missense	54832	exon29			GGCTTCCTTTTGG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2921G>A	15.37:g.62259637C>T	ENSP00000261517:p.Arg974Lys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	1568	0.717948717948718	449	0.9126016260162602	212	0.585635359116022	489	0.8548951048951049	418	0.5514511873350924	T	1.921	-0.448323	0.04572	0.849159	0.574755	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.2	1.62	0.23740	.	0.398165	0.27451	N	0.019320	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	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	0.33828	-0.9853	9	0.02654	T	1	.	9.7549	0.40498	0.0:0.2833:0.0:0.7167	rs3784634;rs17271277;rs52818014;rs57842846;rs3784634	931;974;931;974	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	931;974;974;974	ENSP00000249837:R931K;ENSP00000261517:R974K;ENSP00000379233:R974K	ENSP00000249837:R931K	R	-	2	0	VPS13C	60046929	0.997000	0.39634	0.995000	0.50966	0.699000	0.40488	1.921000	0.40035	0.084000	0.17077	-1.390000	0.01156	AGG	C|0.293;T|0.707	0.707	strong		0.269	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62259637	C	T	62259637	3	4	22	1	0	0	0	0	1	0	0	0	17188	681	24	2	8596	2	VPS13C	15	62259637	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33214	62259637	40271755	7775	12883										
LACTB	114294	hgsc.bcm.edu	37	chr15	63433785	63433785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaacaaacgtatggttcGtgtagaaagcaacggcatta	11	6	0	1	rs4775629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:63433785G>A	ENST00000261893.4	+	6	1497	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	475						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.S475S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CGTATGGTTCGTGTAGAAAGC	0.483													G|||	615	0.122804	0.1921	0.0922	5008	,	,		20324	0.1677		0.0308	False		,,,				2504	0.0992				p.S475S	Melanoma(85;443 1381 6215 27308 35583)	Atlas-SNP	.											LACTB,NS,carcinoma,0,1	LACTB	29	1	1	Substitution - coding silent(1)	stomach(1)	c.G1425A						PASS	.	G		735,3671	304.1+/-288.3	72,591,1540	77	67	70		1425	-5.8	0.9	15	dbSNP_111	70	206,8394	88.6+/-150.9	2,202,4096	no	coding-synonymous	LACTB	NM_032857.3		74,793,5636	AA,AG,GG		2.3953,16.6818,7.2351		475/548	63433785	941,12065	2203	4300	6503	SO:0001819	synonymous_variant	114294	exon6			TGGTTCGTGTAGA	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1425G>A	15.37:g.63433785G>A		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	173	78	0.450867	NM_032857	P83096	Silent	SNP	ENST00000261893.4	37	CCDS10182.1																																																																																			G|0.904;A|0.096	0.096	strong		0.483	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		A	63433785	G	A	63433785	2	1	22	1	0	0	0	0	0	0	0	1	8597	1132	40	1		1	LACTB	15	63433785	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1174148	63433785	39097607	7776	12884										
APH1B	83464	hgsc.bcm.edu	37	chr15	63597857	63597857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaacctggcgtcagcattTataatcctggtgctcatggg	10	9	2	0	rs1047552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:63597857T>G	ENST00000261879.5	+	6	721	c.651T>G	c.(649-651)ttT>ttG	p.F217L	APH1B_ENST00000560716.1_3'UTR|APH1B_ENST00000380343.4_Missense_Mutation_p.F176L	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	217			F -> L (in dbSNP:rs1047552).		apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.F217L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CGTCAGCATTTATAATCCTGG	0.443													T|||	401	0.0800719	0.0575	0.1167	5008	,	,		19199	0.1637		0.0388	False		,,,				2504	0.0409				p.F217L		Atlas-SNP	.											APH1B,NS,carcinoma,0,1	APH1B	27	1	1	Substitution - Missense(1)	stomach(1)	c.T651G	GRCh37	CM086277	APH1B	M	rs1047552	PASS	.	T	LEU/PHE,LEU/PHE	244,4162	141.9+/-177.2	10,224,1969	70	74	73		528,651	0	0	15	dbSNP_86	73	259,8341	100.8+/-162.1	6,247,4047	yes	missense,missense	APH1B	NM_001145646.1,NM_031301.3	22,22	16,471,6016	GG,GT,TT		3.0116,5.5379,3.8674	benign,benign	176/217,217/258	63597857	503,12503	2203	4300	6503	SO:0001583	missense	83464	exon6			AGCATTTATAATC	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.651T>G	15.37:g.63597857T>G	ENSP00000261879:p.Phe217Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_031301	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	222	0.10164835164835165	43	0.08739837398373984	36	0.09944751381215469	117	0.20454545454545456	26	0.03430079155672823	T	8.914	0.959432	0.18507	0.055379	0.030116	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.41065	1.01;1.01	4.93	0.0142	0.14099	.	0.068865	0.64402	D	0.000012	T	0.00039	0.0001	N	0.24115	0.695	0.54753	P	1.799999999996249E-5	B;B	0.20671	0.047;0.047	B;B	0.25506	0.061;0.061	T	0.14896	-1.0456	9	0.45353	T	0.12	-7.5573	7.3785	0.26841	0.0:0.487:0.0:0.513	rs1047552;rs3187561;rs52837075;rs1047552	176;217	Q564N3;Q8WW43	.;APH1B_HUMAN	L	176;217	ENSP00000369700:F176L;ENSP00000261879:F217L	ENSP00000261879:F217L	F	+	3	2	APH1B	61384910	0.121000	0.22262	0.002000	0.10522	0.030000	0.12068	-0.118000	0.10692	-0.029000	0.13827	-0.475000	0.04921	TTT	G|0.065;T|0.935	0.065	strong		0.443	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		G	63597857	T	G	63597857	3	3	22	1	0	0	0	0	1	0	0	0	772	1751	61	5	673	5	APH1B	15	63597857	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	164072	63597857	38933535	7777	12885										
PPIB	5479	hgsc.bcm.edu	37	chr15	64455123	64455123	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcagcaggaagaagacGgaccccgcgatgagggcggc	18	11	0	3	rs4904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:64455123G>T	ENST00000300026.3	-	1	281	c.63C>A	c.(61-63)tcC>tcA	p.S21S	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	21					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GGAAGAAGACGGACCCCGCGA	0.647													G|||	243	0.0485224	0.0212	0.1916	5008	,	,		10062	0.0357		0.0229	False		,,,				2504	0.0235				p.S21S	GBM(105;399 1481 32889 33051 36637)	Atlas-SNP	.											.	PPIB	20	.	0			c.C63A						PASS	.	G		96,4310	73.6+/-111.7	1,94,2108	25	29	28	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	63	0.8	1	15	dbSNP_52	28	166,8432	72.6+/-135.2	1,164,4134	no	coding-synonymous	PPIB	NM_000942.4		2,258,6242	TT,TG,GG		1.9307,2.1788,2.0148		21/217	64455123	262,12742	2203	4299	6502	SO:0001819	synonymous_variant	5479	exon1			GAAGACGGACCCC		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.63C>A	15.37:g.64455123G>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	189	100	0.529101	NM_000942	A8K534|Q6IBH5|Q9BVK5	Silent	SNP	ENST00000300026.3	37	CCDS10191.1																																																																																			G|0.969;T|0.031	0.031	strong		0.647	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			T	64455123	G	T	64455123	2	4	22	1	0	0	0	0	0	0	0	1	12319	1103	39	4		4	PPIB	15	64455123	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	857266	64455123	38076269	7778	12886										
CSNK1G1	53944	hgsc.bcm.edu	37	chr15	64508763	64508763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcaattccaacttaccaGctggatggctatcattaaca	7	10	1	1	rs6494466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:64508763G>A	ENST00000303052.7	-	5	865	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	CSNK1G1_ENST00000607537.1_Silent_p.L148L|CSNK1G1_ENST00000303032.6_Silent_p.L148L|CTD-2116N17.1_ENST00000606793.1_Silent_p.L121L	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CAACTTACCAGCTGGATGGCT	0.478													A|||	2431	0.485423	0.9614	0.2089	5008	,	,		19212	0.1419		0.2386	False		,,,				2504	0.6462				p.L148L		Atlas-SNP	.											.	CSNK1G1	56	.	0			c.C442T						PASS	.	A		3701,705	294.1+/-283.0	1552,597,54	71	59	63		442	4	1	15	dbSNP_116	63	2308,6292	705.1+/-405.5	313,1682,2305	no	coding-synonymous	CSNK1G1	NM_022048.3		1865,2279,2359	AA,AG,GG		26.8372,16.0009,46.2018		148/423	64508763	6009,6997	2203	4300	6503	SO:0001819	synonymous_variant	53944	exon5			TTACCAGCTGGAT	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.442C>T	15.37:g.64508763G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_022048	Q5JPH1|Q96AE9|Q9HCP1	Silent	SNP	ENST00000303052.7	37	CCDS10192.2																																																																																			G|0.548;A|0.451	0.451	strong		0.478	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		A	64508763	G	A	64508763	2	1	22	1	0	0	0	0	0	0	0	1	3954	962	34	2		2	CSNK1G1	15	64508763	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53640	64508763	38022629	7779	12887										
CSNK1G1	53944	hgsc.bcm.edu	37	chr15	64592522	64592522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaccaagtgcttacctaaTctgagctctccgaagttccc	6	13	2	1	rs7163558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:64592522T>C	ENST00000303052.7	-	2	600	c.177A>G	c.(175-177)agA>agG	p.R59R	CSNK1G1_ENST00000303032.6_Silent_p.R59R|CSNK1G1_ENST00000607537.1_Silent_p.R59R|CTD-2116N17.1_ENST00000606793.1_5'UTR|CTD-2116N17.1_ENST00000558783.1_5'Flank	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GCTTACCTAATCTGAGCTCTC	0.448													T|||	153	0.0305511	0.115	0.0014	5008	,	,		19957	0.0		0.0	False		,,,				2504	0.0				p.R59R		Atlas-SNP	.											.	CSNK1G1	56	.	0			c.A177G						PASS	.	T		401,4005	199.1+/-222.7	18,365,1820	253	243	246		177	5.4	1	15	dbSNP_116	246	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	CSNK1G1	NM_022048.3		18,372,6113	CC,CT,TT		0.0814,9.1012,3.137		59/423	64592522	408,12598	2203	4300	6503	SO:0001819	synonymous_variant	53944	exon2			ACCTAATCTGAGC	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.177A>G	15.37:g.64592522T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	190	91	0.478947	NM_022048	Q5JPH1|Q96AE9|Q9HCP1	Silent	SNP	ENST00000303052.7	37	CCDS10192.2																																																																																			T|0.968;C|0.032	0.032	strong		0.448	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		C	64592522	T	C	64592522	2	2	22	1	0	0	0	0	0	0	0	1	3954	1432	50	2		2	CSNK1G1	15	64592522	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	83759	64592522	37938870	7780	12888										
ZNF609	23060	hgsc.bcm.edu	37	chr15	64967654	64967654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgtcaaatcaaaggacgcCgaacagttggttaaagaagg	12	6	2	1	rs16948170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:64967654C>T	ENST00000326648.3	+	4	2729	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	867						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAGGACGCCGAACAGTTGG	0.483													T|||	638	0.127396	0.3396	0.0519	5008	,	,		20467	0.001		0.0696	False		,,,				2504	0.0838				p.A867A		Atlas-SNP	.											.	ZNF609	106	.	0			c.C2601T						PASS	.	T		1283,3123	694.0+/-405.8	180,923,1100	76	82	80		2601	-8.2	0.3	15	dbSNP_123	80	559,8039	791.4+/-407.5	25,509,3765	no	coding-synonymous	ZNF609	NM_015042.1		205,1432,4865	TT,TC,CC		6.5015,29.1194,14.1649		867/1412	64967654	1842,11162	2203	4299	6502	SO:0001819	synonymous_variant	23060	exon4			GGACGCCGAACAG	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2601C>T	15.37:g.64967654C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	71	36	0.507042	NM_015042	Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																			C|0.871;T|0.129	0.129	strong		0.483	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		T	64967654	C	T	64967654	2	4	22	1	0	0	0	0	0	0	0	1	18032	639	23	1		1	ZNF609	15	64967654	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	375132	64967654	37563738	7781	12889										
PIF1	80119	hgsc.bcm.edu	37	chr15	65108939	65108939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacacacggcccagagaaAtctccacacaatccagggtc	7	15	1	1	rs138069301		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65108939A>G	ENST00000268043.4	-	12	1794	c.1700T>C	c.(1699-1701)aTt>aCt	p.I567T	PIF1_ENST00000333425.6_Missense_Mutation_p.I567T|PIF1_ENST00000559239.1_Missense_Mutation_p.I567T					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						GCCCAGAGAAATCTCCACACA	0.612																																					p.I567T		Atlas-SNP	.											.	PIF1	43	.	0			c.T1700C						PASS	.	A	THR/ILE	1,4399		0,1,2199	42	38	39		1700	5.7	1	15	dbSNP_134	39	0,8592		0,0,4296	no	missense	PIF1	NM_025049.2	89	0,1,6495	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	567/642	65108939	1,12991	2200	4296	6496	SO:0001583	missense	80119	exon12			AGAGAAATCTCCA	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1700T>C	15.37:g.65108939A>G	ENSP00000268043:p.Ile567Thr	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	174	84	0.482759	NM_025049		Missense_Mutation	SNP	ENST00000268043.4	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777475	0.70107	2.27E-4	0.0	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.48836	0.8;0.8	5.73	5.73	0.89815	.	0.045148	0.85682	D	0.000000	T	0.64000	0.2559	M	0.75085	2.285	0.80722	D	1	P	0.51653	0.947	P	0.56751	0.805	T	0.68573	-0.5373	10	0.87932	D	0	-13.5461	13.9753	0.64268	1.0:0.0:0.0:0.0	.	567	Q9H611	PIF1_HUMAN	T	567	ENSP00000268043:I567T;ENSP00000328174:I567T	ENSP00000268043:I567T	I	-	2	0	PIF1	62895992	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.272000	0.95707	2.186000	0.69663	0.533000	0.62120	ATT	A|1.000;G|0.000	0.000	weak		0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		G	65108939	A	G	65108939	3	3	22	1	0	0	0	0	1	0	0	0	11883	101	4	2	233	2	PIF1	15	65108939	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	141285	65108939	37422453	7782	12890										
PIF1	80119	hgsc.bcm.edu	37	chr15	65112116	65112116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtgcagagcctcgtggcCacaatcccatctcgccccac	10	17	1	1	rs145376177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65112116C>T	ENST00000268043.4	-	8	1357	c.1263G>A	c.(1261-1263)gtG>gtA	p.V421V	PIF1_ENST00000333425.6_Silent_p.V421V|PIF1_ENST00000559239.1_Silent_p.V421V					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						GCCTCGTGGCCACAATCCCAT	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		18557	0.002		0.0	False		,,,				2504	0.0				p.V421V		Atlas-SNP	.											.	PIF1	43	.	0			c.G1263A						PASS	.	C		1,4403	2.1+/-5.4	0,1,2201	81	72	75		1263	4.7	1	15	dbSNP_134	75	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PIF1	NM_025049.2		0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154		421/642	65112116	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	80119	exon8			CGTGGCCACAATC	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1263G>A	15.37:g.65112116C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_025049		Silent	SNP	ENST00000268043.4	37	CCDS10195.2																																																																																			C|1.000;T|0.000	0.000	weak		0.652	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		T	65112116	C	T	65112116	2	4	22	1	0	0	0	0	0	0	0	1	11883	581	21	2		2	PIF1	15	65112116	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3177	65112116	37419276	7783	12891										
PLEKHO2	80301	hgsc.bcm.edu	37	chr15	65157482	65157482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgcagagagtgcagaaCcgtcccaggcaccctgttct	11	14	1	2	rs2010875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65157482C>T	ENST00000323544.4	+	6	996	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	290	Pro-rich.		P -> S (in dbSNP:rs2010875). {ECO:0000269|PubMed:15498874}.							NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GAGTGCAGAACCGTCCCAGGC	0.617													C|||	1518	0.303115	0.1581	0.2983	5008	,	,		17993	0.7589		0.1461	False		,,,				2504	0.1943				p.P290S		Atlas-SNP	.											.	PLEKHO2	50	.	0			c.C868T						PASS	.	C	SER/PRO,SER/PRO	673,3731	275.7+/-272.7	50,573,1579	49	52	51		718,868	1.8	0	15	dbSNP_92	51	1310,7286	250.0+/-277.0	100,1110,3088	yes	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	74,74	150,1683,4667	TT,TC,CC		15.2396,15.2816,15.2538	benign,benign	240/441,290/491	65157482	1983,11017	2202	4298	6500	SO:0001583	missense	80301	exon6			GCAGAACCGTCCC	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.868C>T	15.37:g.65157482C>T	ENSP00000326706:p.Pro290Ser	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	96	40	0.416667	NM_025201	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	730	0.3342490842490842	69	0.1402439024390244	97	0.26795580110497236	451	0.7884615384615384	113	0.14907651715039577	C	0.003	-2.482521	0.00163	0.152816	0.152396	ENSG00000241839	ENST00000323544	T	0.29142	1.58	5.33	1.78	0.24846	.	1.654450	0.02961	N	0.143106	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.40059	-0.9583	9	0.06236	T	0.91	.	2.3278	0.04227	0.1592:0.2521:0.4516:0.1371	rs2010875;rs3809502;rs12911443;rs16948324;rs52791051;rs57577084;rs2010875	240;290	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	290	ENSP00000326706:P290S	ENSP00000326706:P290S	P	+	1	0	PLEKHO2	62944535	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.212000	0.17497	0.593000	0.29745	0.655000	0.94253	CCG	T|0.220;G|0.000;C|0.779	0.220	strong		0.617	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		T	65157482	C	T	65157482	3	4	22	1	0	0	0	0	1	0	0	0	12085	507	18	2	890	2	PLEKHO2	15	65157482	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45366	65157482	37373910	7784	12892										
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		Atlas-SNP	.											.	KBTBD13	9	.	0			c.C242T						PASS	.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_001101362		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.451;T|0.549	0.549	strong		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	22	1	0	0	0	0	1	0	0	0	7992	739	26	2	244	2	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	211913	65369395	37161997	7785	12893										
CILP	8483	hgsc.bcm.edu	37	chr15	65496624	65496624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgccctcacaaactctgCcttgatggtggctgccttca	8	15	3	1	rs140625947	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65496624C>G	ENST00000261883.4	-	6	1067	c.901G>C	c.(901-903)Gca>Cca	p.A301P		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	301					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAAACTCTGCCTTGATGGTG	0.473													C|||	13	0.00259585	0.0008	0.0	5008	,	,		20367	0.0119		0.0	False		,,,				2504	0.0				p.A301P		Atlas-SNP	.											.	CILP	124	.	0			c.G901C						PASS	.	C	PRO/ALA	4,4398	8.1+/-20.4	0,4,2197	83	82	83		901	5.6	0.8	15	dbSNP_134	83	0,8598		0,0,4299	yes	missense	CILP	NM_003613.3	27	0,4,6496	GG,GC,CC		0.0,0.0909,0.0308	possibly-damaging	301/1185	65496624	4,12996	2201	4299	6500	SO:0001583	missense	8483	exon6			ACTCTGCCTTGAT	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.901G>C	15.37:g.65496624C>G	ENSP00000261883:p.Ala301Pro	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	164	75	0.457317	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	7	0.003205128205128205	1	0.0020325203252032522	0	0.0	6	0.01048951048951049	0	0.0	C	18.99	3.738884	0.69304	9.09E-4	0.0	ENSG00000138615	ENST00000261883	T	0.40476	1.03	5.63	5.63	0.86233	.	0.163750	0.52532	D	0.000061	T	0.37019	0.0988	L	0.50333	1.59	0.43058	D	0.994673	P	0.50943	0.94	B	0.44044	0.439	T	0.44862	-0.9300	10	0.72032	D	0.01	-27.6493	18.6742	0.91523	0.0:1.0:0.0:0.0	.	301	O75339	CILP1_HUMAN	P	301	ENSP00000261883:A301P	ENSP00000261883:A301P	A	-	1	0	CILP	63283677	0.983000	0.35010	0.798000	0.32154	0.651000	0.38670	2.711000	0.47177	2.659000	0.90383	0.563000	0.77884	GCA	C|0.999;G|0.001	0.001	strong		0.473	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		G	65496624	C	G	65496624	3	3	22	1	0	0	0	0	1	0	0	0	3429	739	26	4	2669	4	CILP	15	65496624	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	127229	65496624	37034768	7786	12894										
IGDCC4	57722	hgsc.bcm.edu	37	chr15	65676617	65676617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatgagatcaggagcctcTggaggcagggggtcctcagg	18	8	3	2	rs2292933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65676617T>C	ENST00000352385.2	-	20	3692	c.3483A>G	c.(3481-3483)ccA>ccG	p.P1161P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAGGAGCCTCTGGAGGCAGGG	0.627													C|||	2605	0.520168	0.5976	0.5994	5008	,	,		19120	0.6687		0.3926	False		,,,				2504	0.3374				p.P1161P		Atlas-SNP	.											IGDCC4,caecum,carcinoma,-1,1	IGDCC4	95	1	0			c.A3483G						PASS	.	C		2490,1912	520.4+/-370.3	709,1072,420	34	37	36		3483	-2.3	0	15	dbSNP_100	36	3477,5121	611.3+/-395.8	690,2097,1512	no	coding-synonymous	IGDCC4	NM_020962.1		1399,3169,1932	CC,CT,TT		40.4396,43.4348,45.9		1161/1251	65676617	5967,7033	2201	4299	6500	SO:0001819	synonymous_variant	57722	exon20			AGCCTCTGGAGGC		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3483A>G	15.37:g.65676617T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_020962	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																			T|0.516;C|0.484	0.484	strong		0.627	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		C	65676617	T	C	65676617	2	2	22	1	0	0	0	0	0	0	0	1	7569	1567	55	3		3	IGDCC4	15	65676617	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	179993	65676617	36854775	7787	12895										
IGDCC4	57722	hgsc.bcm.edu	37	chr15	65676726	65676726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcctccacctggttcctgCaggctgggggtgacttcttc	12	14	1	1	rs33918653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65676726C>T	ENST00000352385.2	-	20	3583	c.3374G>A	c.(3373-3375)tGc>tAc	p.C1125Y	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1125			C -> Y (in dbSNP:rs33918653).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGTTCCTGCAGGCTGGGGG	0.522													C|||	1172	0.234026	0.1475	0.2579	5008	,	,		21304	0.4444		0.1869	False		,,,				2504	0.1656				p.C1125Y		Atlas-SNP	.											.	IGDCC4	95	.	0			c.G3374A						PASS	.	C	TYR/CYS	616,3786	268.6+/-268.5	44,528,1629	105	104	104		3374	4.3	1	15	dbSNP_126	104	1679,6919	310.8+/-310.0	163,1353,2783	yes	missense	IGDCC4	NM_020962.1	194	207,1881,4412	TT,TC,CC		19.5278,13.9936,17.6538	probably-damaging	1125/1251	65676726	2295,10705	2201	4299	6500	SO:0001583	missense	57722	exon20			TTCCTGCAGGCTG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3374G>A	15.37:g.65676726C>T	ENSP00000319623:p.Cys1125Tyr	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	24	17	0.708333	NM_020962	Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	CCDS10206.1	560	0.2564102564102564	69	0.1402439024390244	80	0.22099447513812154	264	0.46153846153846156	147	0.19393139841688653	C	18.83	3.707798	0.68615	0.139936	0.195278	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.60040	0.22	5.19	4.27	0.50696	.	0.126462	0.36778	N	0.002418	T	0.00012	0.0000	L	0.47716	1.5	0.29015	P	0.886638	D	0.57899	0.981	P	0.48840	0.592	T	0.46803	-0.9165	9	0.56958	D	0.05	-9.9263	10.5505	0.45085	0.0:0.9093:0.0:0.0907	rs33918653	1125	Q8TDY8	IGDC4_HUMAN	Y	1125;854	ENSP00000319623:C1125Y	ENSP00000319623:C1125Y	C	-	2	0	IGDCC4	63463779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.349000	0.44054	1.187000	0.43000	0.561000	0.74099	TGC	C|0.807;T|0.193	0.193	strong		0.522	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		T	65676726	C	T	65676726	3	4	22	1	0	0	0	0	1	0	0	0	7569	710	25	2	382	2	IGDCC4	15	65676726	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109	65676726	36854666	7788	12896										
IGDCC4	57722	hgsc.bcm.edu	37	chr15	65681648	65681648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagggtggagcgctccaccAcagagccgaaaggcccatcc	13	15	0	1	rs144676391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65681648A>G	ENST00000352385.2	-	14	2719	c.2510T>C	c.(2509-2511)gTg>gCg	p.V837A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	837	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCGCTCCACCACAGAGCCGAA	0.572													A|||	21	0.00419329	0.0159	0.0	5008	,	,		16119	0.0		0.0	False		,,,				2504	0.0				p.V837A		Atlas-SNP	.											.	IGDCC4	95	.	0			c.T2510C						PASS	.	A	ALA/VAL	46,4356	48.2+/-83.0	0,46,2155	82	63	69		2510	4.3	1	15	dbSNP_134	69	0,8598		0,0,4299	yes	missense	IGDCC4	NM_020962.1	64	0,46,6454	GG,GA,AA		0.0,1.045,0.3538	benign	837/1251	65681648	46,12954	2201	4299	6500	SO:0001583	missense	57722	exon14			TCCACCACAGAGC		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2510T>C	15.37:g.65681648A>G	ENSP00000319623:p.Val837Ala	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	50	18	0.36	NM_020962	Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	CCDS10206.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	A	13.90	2.373757	0.42105	0.01045	0.0	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.54279	0.58	5.37	4.26	0.50523	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.256570	0.38058	N	0.001833	T	0.18676	0.0448	N	0.13098	0.295	0.30508	N	0.76971	B	0.23377	0.084	B	0.17722	0.019	T	0.15925	-1.0420	10	0.35671	T	0.21	-20.1912	10.6197	0.45472	0.9248:0.0:0.0752:0.0	.	837	Q8TDY8	IGDC4_HUMAN	A	837;566	ENSP00000319623:V837A	ENSP00000319623:V837A	V	-	2	0	IGDCC4	63468701	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	5.865000	0.69583	2.043000	0.60533	0.454000	0.30748	GTG	A|0.995;G|0.005	0.005	strong		0.572	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		G	65681648	A	G	65681648	3	3	22	1	0	0	0	0	1	0	0	0	7569	159	6	2	1270	2	IGDCC4	15	65681648	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4922	65681648	36849744	7789	12897										
DPP8	54878	hgsc.bcm.edu	37	chr15	65739303	65739303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagttcataatgttctccCgattcaggaactcttatgct	7	10	4	0	rs11009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65739303C>A	ENST00000341861.5	-	20	4196	c.2616G>T	c.(2614-2616)tcG>tcT	p.S872S	DPP8_ENST00000321118.7_Silent_p.S823S|DPP8_ENST00000358939.4_Silent_p.S756S|DPP8_ENST00000321147.6_Silent_p.S821S|DPP8_ENST00000559233.1_Silent_p.S872S|DPP8_ENST00000300141.6_Silent_p.S856S|DPP8_ENST00000339244.5_Silent_p.S699S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	872					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						AATGTTCTCCCGATTCAGGAA	0.338													A|||	301	0.0601038	0.1044	0.0331	5008	,	,		17283	0.0446		0.0457	False		,,,				2504	0.0501				p.S872S		Atlas-SNP	.											.	DPP8	78	.	0			c.G2616T						PASS	.	A	,,,	423,3979	786.2+/-414.8	18,387,1796	143	141	141		2268,2568,2616,2463	-2.9	1	15	dbSNP_52	141	499,8099	796.4+/-407.5	16,467,3816	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP8	NM_017743.4,NM_130434.3,NM_197960.2,NM_197961.2	,,,	34,854,5612	AA,AC,CC		5.8037,9.6093,7.0923	,,,	756/783,856/883,872/899,821/848	65739303	922,12078	2201	4299	6500	SO:0001819	synonymous_variant	54878	exon21			TTCTCCCGATTCA	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.2616G>T	15.37:g.65739303C>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	86	32	0.372093	NM_197960	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	CCDS10207.1																																																																																			C|0.936;A|0.064	0.064	strong		0.338	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		A	65739303	C	A	65739303	2	1	22	1	0	0	0	0	0	0	0	1	4732	639	23	4		4	DPP8	15	65739303	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57655	65739303	36792089	7790	12898										
DPP8	54878	hgsc.bcm.edu	37	chr15	65772698	65772698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgagatcaacactatctgTaggcgagtctgggagcgatc	14	8	3	1	rs352461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65772698T>C	ENST00000341861.5	-	10	2786	c.1206A>G	c.(1204-1206)ctA>ctG	p.L402L	DPP8_ENST00000321118.7_Silent_p.L402L|DPP8_ENST00000358939.4_Silent_p.L386L|DPP8_ENST00000321147.6_Silent_p.L402L|DPP8_ENST00000559233.1_Silent_p.L402L|DPP8_ENST00000300141.6_Silent_p.L386L|DPP8_ENST00000339244.5_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	402					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						ACACTATCTGTAGGCGAGTCT	0.403													C|||	610	0.121805	0.3306	0.0432	5008	,	,		16261	0.0456		0.0457	False		,,,				2504	0.0521				p.L402L		Atlas-SNP	.											.	DPP8	78	.	0			c.A1206G						PASS	.	C	,,,	1237,3165	704.2+/-407.1	177,883,1141	91	86	87		1158,1158,1206,1206	-8.9	0.4	15	dbSNP_79	87	507,8091	796.4+/-407.5	16,475,3808	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP8	NM_017743.4,NM_130434.3,NM_197960.2,NM_197961.2	,,,	193,1358,4949	CC,CT,TT		5.8967,28.1009,13.4154	,,,	386/783,386/883,402/899,402/848	65772698	1744,11256	2201	4299	6500	SO:0001819	synonymous_variant	54878	exon11			TATCTGTAGGCGA	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.1206A>G	15.37:g.65772698T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_197960	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	CCDS10207.1																																																																																			T|0.871;C|0.129	0.129	strong		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		C	65772698	T	C	65772698	2	2	22	1	0	0	0	0	0	0	0	1	4732	1625	57	2		2	DPP8	15	65772698	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33395	65772698	36758694	7791	12899										
DPP8	54878	hgsc.bcm.edu	37	chr15	65793060	65793060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattccgactgttccaatgcGttttctttctcttaatagtt	5	9	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65793060G>A	ENST00000341861.5	-	4	2058	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DPP8_ENST00000321118.7_Missense_Mutation_p.R160C|DPP8_ENST00000358939.4_Missense_Mutation_p.R144C|DPP8_ENST00000321147.6_Missense_Mutation_p.R160C|Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000559233.1_Missense_Mutation_p.R160C|DPP8_ENST00000300141.6_Missense_Mutation_p.R144C|DPP8_ENST00000339244.5_Missense_Mutation_p.R160C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	160					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						GTTCCAATGCGTTTTCTTTCT	0.393																																					p.R160C		Atlas-SNP	.											DPP8,colon,carcinoma,+1,1	DPP8	78	1	0			c.C478T						PASS	.						204	196	199					15																	65793060		2201	4299	6500	SO:0001583	missense	54878	exon5			CAATGCGTTTTCT	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.478C>T	15.37:g.65793060G>A	ENSP00000339208:p.Arg160Cys	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	179	62	0.346369	NM_197960	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943085	0.92526	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.72479	2.2	0.40608	D	0.981643	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	T	0.60047	-0.7339	10	0.87932	D	0	-17.8264	20.2885	0.98538	0.0:0.0:1.0:0.0	.	144;144;160;160	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	C	160;144;144;160;160;160;160	ENSP00000339208:R160C;ENSP00000351817:R144C;ENSP00000300141:R144C;ENSP00000318111:R160C;ENSP00000316373:R160C;ENSP00000341230:R160C;ENSP00000379013:R160C	ENSP00000300141:R144C	R	-	1	0	DPP8	63580113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.896000	0.87350	2.791000	0.96007	0.650000	0.86243	CGC	.	.	none		0.393	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		A	65793060	G	A	65793060	3	1	22	1	0	0	0	0	1	0	0	0	4732	1145	40	1	2286	1	DPP8	15	65793060	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20362	65793060	36738332	7792	12900										
PTPLAD1	51495	hgsc.bcm.edu	37	chr15	65856653	65856653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcaattggagtcactacGtcaccggtgctgccttctct	10	13	3	0	rs11539008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65856653G>A	ENST00000261875.5	+	7	799	c.633G>A	c.(631-633)acG>acA	p.T211T	PTPLAD1_ENST00000565299.1_Silent_p.T249T|PTPLAD1_ENST00000568793.1_Silent_p.T186T|PTPLAD1_ENST00000562901.1_Silent_p.T94T|PTPLAD1_ENST00000566074.1_Silent_p.T94T|PTPLAD1_ENST00000566511.1_Silent_p.T94T|PTPLAD1_ENST00000442729.2_Silent_p.T156T|PTPLAD1_ENST00000569894.1_Silent_p.T94T	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	211					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GAGTCACTACGTCACCGGTGC	0.443													G|||	554	0.110623	0.093	0.1484	5008	,	,		20223	0.0774		0.17	False		,,,				2504	0.0808				p.T211T		Atlas-SNP	.											.	PTPLAD1	23	.	0			c.G633A						PASS	.	G		417,3503		20,377,1563	148	140	143		633	-4.4	0	15	dbSNP_120	143	1557,6735		153,1251,2742	no	coding-synonymous	PTPLAD1	NM_016395.2		173,1628,4305	AA,AG,GG		18.7771,10.6378,16.1644		211/363	65856653	1974,10238	1960	4146	6106	SO:0001819	synonymous_variant	51495	exon7			CACTACGTCACCG		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.633G>A	15.37:g.65856653G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	163	82	0.503067	NM_016395	A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Silent	SNP	ENST00000261875.5	37	CCDS45282.1																																																																																			G|0.872;A|0.128	0.128	strong		0.443	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		A	65856653	G	A	65856653	2	1	22	1	0	0	0	0	0	0	0	1	12775	1132	40	1		1	PTPLAD1	15	65856653	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63593	65856653	36674739	7793	12901										
PTPLAD1	51495	hgsc.bcm.edu	37	chr15	65863917	65863917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatgctgacgtgcattgacAtggattggaaggtgctcaca	12	8	1	2	rs2279854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:65863917A>C	ENST00000261875.5	+	9	971	c.805A>C	c.(805-807)Atg>Ctg	p.M269L	snoU13_ENST00000459019.1_RNA|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.M307L|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.M244L|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.M152L|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.M152L|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.M152L|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.M214L|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.M152L	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	269			M -> L (in dbSNP:rs2279854).		activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GTGCATTGACATGGATTGGAA	0.428													A|||	282	0.0563099	0.0915	0.0331	5008	,	,		20876	0.0427		0.0457	False		,,,				2504	0.0501				p.M269L		Atlas-SNP	.											.	PTPLAD1	23	.	0			c.A805C						PASS	.	A	LEU/MET	352,3556		13,326,1615	155	145	148		805	4.7	1	15	dbSNP_100	148	481,7819		14,453,3683	yes	missense	PTPLAD1	NM_016395.2	15	27,779,5298	CC,CA,AA		5.7952,9.0072,6.8234	benign	269/363	65863917	833,11375	1954	4150	6104	SO:0001583	missense	51495	exon9			ATTGACATGGATT		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.805A>C	15.37:g.65863917A>C	ENSP00000261875:p.Met269Leu	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	306	125	0.408497	NM_016395	A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	CCDS45282.1	103	0.04716117216117216	35	0.07113821138211382	14	0.03867403314917127	24	0.04195804195804196	30	0.0395778364116095	A	13.63	2.293116	0.40594	0.090072	0.057952	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.28069	1.63;1.63	5.83	4.66	0.58398	.	0.188681	0.56097	D	0.000028	T	0.00845	0.0028	L	0.36672	1.1	0.33734	D	0.618531	B;B	0.24823	0.112;0.021	B;B	0.29663	0.105;0.021	T	0.08391	-1.0724	10	0.10902	T	0.67	-23.838	13.2201	0.59883	0.8678:0.1322:0.0:0.0	rs2279854;rs52832145;rs59360753;rs2279854	214;269	B4DRF4;Q9P035	.;HACD3_HUMAN	L	214;269	ENSP00000392491:M214L;ENSP00000261875:M269L	ENSP00000261875:M269L	M	+	1	0	PTPLAD1	63650970	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	5.321000	0.65846	2.225000	0.72522	0.533000	0.62120	ATG	A|0.949;C|0.051	0.051	strong		0.428	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		C	65863917	A	C	65863917	3	2	22	1	0	0	0	0	1	0	0	0	12775	217	8	5	839	5	PTPLAD1	15	65863917	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7264	65863917	36667475	7794	12902										
MEGF11	84465	hgsc.bcm.edu	37	chr15	66411441	66411441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtatgcagaagtctccgCtctcatagtagccagggcag	11	11	2	1	rs16949528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:66411441C>T	ENST00000409699.2	-	4	456	c.284G>A	c.(283-285)aGc>aAc	p.S95N	MEGF11_ENST00000288745.3_Intron|MEGF11_ENST00000395625.2_Intron|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.S95N|MEGF11_ENST00000360698.4_Missense_Mutation_p.S95N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	95	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.		S -> N (in dbSNP:rs16949528). {ECO:0000269|PubMed:15489334}.		homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GAAGTCTCCGCTCTCATAGTA	0.607													T|||	2141	0.427516	0.5545	0.2867	5008	,	,		15476	0.4762		0.2555	False		,,,				2504	0.4826				p.S95N		Atlas-SNP	.											.	MEGF11	70	.	0			c.G284A						PASS	.	T	ASN/SER	732,648		187,358,145	68	70	70		284	1.7	0.3	15	dbSNP_123	70	889,2291		135,619,836	yes	missense	MEGF11	NM_032445.2	46	322,977,981	TT,TC,CC		27.956,46.9565,35.5482	benign	95/1045	66411441	1621,2939	690	1590	2280	SO:0001583	missense	84465	exon4			TCTCCGCTCTCAT	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.284G>A	15.37:g.66411441C>T	ENSP00000386908:p.Ser95Asn	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	30	0.652174	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	CCDS10213.2	834	0.38186813186813184	278	0.5650406504065041	95	0.26243093922651933	268	0.46853146853146854	193	0.2546174142480211	T	11.20	1.569365	0.28003	0.530435	0.27956	ENSG00000157890	ENST00000409699;ENST00000422354;ENST00000360698	D;D;D	0.87029	-2.2;-2.2;-2.13	5.29	1.74	0.24563	EMI domain (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	M	0.65498	2.005	0.44798	P	0.0021970000000000045	B	0.02656	0.0	B	0.08055	0.003	T	0.45600	-0.9250	8	0.20046	T	0.44	.	9.9341	0.41541	0.0:0.4872:0.0:0.5128	rs16949528;rs56708944	95	A6BM72	MEG11_HUMAN	N	95	ENSP00000386908:S95N;ENSP00000414475:S95N;ENSP00000353919:S95N	ENSP00000353919:S95N	S	-	2	0	MEGF11	64198495	0.920000	0.31207	0.279000	0.24732	0.913000	0.54294	1.643000	0.37217	-0.184000	0.10567	-0.269000	0.10298	AGC	C|0.642;T|0.358	0.358	strong		0.607	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		T	66411441	C	T	66411441	3	4	22	1	0	0	0	0	1	0	0	0	9461	797	28	2	2930	2	MEGF11	15	66411441	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	547524	66411441	36119951	7795	12903										
DIS3L	115752	hgsc.bcm.edu	37	chr15	66625470	66625470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccccttgctgaagagtgaGttagtgaaagaagtaactaa	10	7	0	5	rs3759785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:66625470G>A	ENST00000319212.4	+	17	3035	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Silent_p.E912E	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	995					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGAAGAGTGAGTTAGTGAAAG	0.368													G|||	150	0.0299521	0.0038	0.0749	5008	,	,		18740	0.0625		0.0258	False		,,,				2504	0.0041				p.E995E		Atlas-SNP	.											.	DIS3L	175	.	0			c.G2985A						PASS	.	G	,	30,4372	34.3+/-65.2	1,28,2172	93	93	93		2985,2736	-11.6	0	15	dbSNP_107	93	169,8429	77.8+/-140.4	4,161,4134	no	coding-synonymous,coding-synonymous	DIS3L	NM_001143688.1,NM_133375.3	,	5,189,6306	AA,AG,GG		1.9656,0.6815,1.5308	,	995/1055,912/972	66625470	199,12801	2201	4299	6500	SO:0001819	synonymous_variant	115752	exon17			GAGTGAGTTAGTG		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2985G>A	15.37:g.66625470G>A		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	28	14	0.5	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	CCDS45286.1																																																																																			G|0.973;A|0.027	0.027	strong		0.368	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		A	66625470	G	A	66625470	2	1	22	1	0	0	0	0	0	0	0	1	4536	1020	36	2		2	DIS3L	15	66625470	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	214029	66625470	35905922	7796	12904										
TIPIN	54962	hgsc.bcm.edu	37	chr15	66641732	66641732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttagggaatagcctatgtGcccagtgctccatgtgtctg	12	9	1	0	rs2063690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:66641732G>C	ENST00000261881.4	-	5	417	c.332C>G	c.(331-333)gCa>gGa	p.A111G	SCARNA14_ENST00000516903.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.A10G|Y_RNA_ENST00000411339.1_RNA	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	111	Interaction with TIMELESS.		A -> G (in dbSNP:rs2063690). {ECO:0000269|Ref.2}.		cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TAGCCTATGTGCCCAGTGCTC	0.408													G|||	701	0.139976	0.0666	0.1297	5008	,	,		17463	0.3214		0.0855	False		,,,				2504	0.1155				p.A111G		Atlas-SNP	.											.	TIPIN	23	.	0			c.C332G						PASS	.	G	GLY/ALA	330,4072	171.9+/-202.1	9,312,1880	120	116	117		332	5.5	1	15	dbSNP_94	117	739,7859	176.8+/-226.5	28,683,3588	yes	missense	TIPIN	NM_017858.2	60	37,995,5468	CC,CG,GG		8.595,7.4966,8.2231	probably-damaging	111/302	66641732	1069,11931	2201	4299	6500	SO:0001583	missense	54962	exon5			CTATGTGCCCAGT	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.332C>G	15.37:g.66641732G>C	ENSP00000261881:p.Ala111Gly	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	106	44	0.415094	NM_017858	B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	CCDS10215.1	362	0.16575091575091574	38	0.07723577235772358	37	0.10220994475138122	223	0.38986013986013984	64	0.08443271767810026	G	16.01	3.002140	0.54254	0.074966	0.08595	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.49720	0.77;0.77	5.54	5.54	0.83059	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.37697	1.125	0.09310	P	0.9999999875026	P	0.37663	0.604	B	0.38954	0.286	T	0.42396	-0.9454	9	0.41790	T	0.15	-20.1045	18.0484	0.89340	0.0:0.0:1.0:0.0	rs2063690;rs17686704;rs2063690	111	Q9BVW5	TIPIN_HUMAN	G	10;111	ENSP00000356682:A10G;ENSP00000261881:A111G	ENSP00000261881:A111G	A	-	2	0	TIPIN	64428786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.354000	0.97083	2.610000	0.88304	0.555000	0.69702	GCA	G|0.877;C|0.123	0.123	strong		0.408	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		C	66641732	G	C	66641732	3	2	22	1	0	0	0	0	1	0	0	0	15922	1319	46	4	589	4	TIPIN	15	66641732	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16262	66641732	35889660	7797	12905										
MAP2K1	5604	hgsc.bcm.edu	37	chr15	66779597	66779597	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagccgacctcccatggcAatttttgagttgttggatta	10	9	0	1	rs146869577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:66779597A>T	ENST00000307102.5	+	8	1458	c.927A>T	c.(925-927)gcA>gcT	p.A309A	CTD-3185P2.1_ENST00000565387.1_RNA|CTD-3185P2.2_ENST00000602360.1_RNA|MAP2K1_ENST00000566326.1_Silent_p.A133A	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CTCCCATGGCAATTTTTGAGT	0.393													A|||	25	0.00499201	0.0182	0.0014	5008	,	,		20753	0.0		0.0	False		,,,				2504	0.0				p.A309A		Atlas-SNP	.											.	MAP2K1	115	.	0			c.A927T						PASS	.	A		61,4341	58.1+/-94.6	0,61,2140	141	130	134		927	-5.7	1	15	dbSNP_134	134	0,8598		0,0,4299	no	coding-synonymous	MAP2K1	NM_002755.3		0,61,6439	TT,TA,AA		0.0,1.3857,0.4692		309/394	66779597	61,12939	2201	4299	6500	SO:0001819	synonymous_variant	5604	exon8			CATGGCAATTTTT	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.927A>T	15.37:g.66779597A>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	115	51	0.443478	NM_002755		Silent	SNP	ENST00000307102.5	37	CCDS10216.1																																																																																			A|0.995;T|0.005	0.005	strong		0.393	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			T	66779597	A	T	66779597	2	4	22	1	0	0	0	0	0	0	0	1	9236	117	5	5		5	MAP2K1	15	66779597	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	137865	66779597	35751795	7798	12906										
SMAD6	4091	hgsc.bcm.edu	37	chr15	67073549	67073549	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcgcagcaagatcggcttCggcatcctgctcagcaagga	12	13	1	1	rs12591946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:67073549C>T	ENST00000288840.5	+	4	2198	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SMAD6_ENST00000338426.4_Silent_p.F128F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	389	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						AGATCGGCTTCGGCATCCTGC	0.687													C|||	207	0.0413339	0.0015	0.0	5008	,	,		13948	0.1766		0.0	False		,,,				2504	0.0276				p.F389F	Esophageal Squamous(179;72 2004 22333 39628 47290)	Atlas-SNP	.											.	SMAD6	14	.	0			c.C1167T						PASS	.	C	,	15,4385		0,15,2185	29	28	29		384,1167	2.7	1	15	dbSNP_120	29	2,8594		0,2,4296	no	coding-synonymous,coding-synonymous	SMAD6	NM_001142861.2,NM_005585.4	,	0,17,6481	TT,TC,CC		0.0233,0.3409,0.1308	,	128/236,389/497	67073549	17,12979	2200	4298	6498	SO:0001819	synonymous_variant	4091	exon4			CGGCTTCGGCATC	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1167C>T	15.37:g.67073549C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	59	31	0.525424	NM_005585	A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Silent	SNP	ENST00000288840.5	37	CCDS10221.1																																																																																			C|0.982;T|0.018	0.018	strong		0.687	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		T	67073549	C	T	67073549	2	4	22	1	0	0	0	0	0	0	0	1	14762	883	31	1		1	SMAD6	15	67073549	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	293952	67073549	35457843	7799	12907										
SMAD3	4088	hgsc.bcm.edu	37	chr15	67457335	67457335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcacagccaccacgagctAcgggccatggagctgtgtga	13	13	0	1	rs1065080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:67457335A>G	ENST00000327367.4	+	2	619	c.309A>G	c.(307-309)ctA>ctG	p.L103L	SMAD3_ENST00000439724.3_Silent_p.L59L|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000559092.1_Missense_Mutation_p.Y85C|SMAD3_ENST00000540846.2_5'UTR	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	103	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCACGAGCTACGGGCCATGG	0.592													G|||	4177	0.834065	0.8669	0.9135	5008	,	,		16957	0.7619		0.8608	False		,,,				2504	0.7802				p.L103L		Atlas-SNP	.											.	SMAD3	119	.	0			c.A309G						PASS	.	G	,,	3842,560	250.6+/-257.6	1677,488,36	101	104	103		,177,309	2.4	1	15	dbSNP_86	103	7598,1000	215.0+/-254.5	3356,886,57	no	utr-5,coding-synonymous,coding-synonymous	SMAD3	NM_001145102.1,NM_001145103.1,NM_005902.3	,,	5033,1374,93	GG,GA,AA		11.6306,12.7215,12.0	,,	,59/382,103/426	67457335	11440,1560	2201	4299	6500	SO:0001819	synonymous_variant	4088	exon2			CGAGCTACGGGCC	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.309A>G	15.37:g.67457335A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	113	0.991228	NM_005902	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	CCDS10222.1																																																																																			A|0.132;G|0.868	0.868	strong		0.592	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		G	67457335	A	G	67457335	2	3	22	1	0	0	0	0	0	0	0	1	14759	378	14	2		2	SMAD3	15	67457335	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	383786	67457335	35074057	7800	12908										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68603345	68603345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcaccagctgtggagcaCgacgcaagtcttcctccact	8	16	2	0	rs146663204	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68603345C>T	ENST00000315757.7	-	26	3247	c.3161G>A	c.(3160-3162)cGt>cAt	p.R1054H	ITGA11_ENST00000423218.2_Missense_Mutation_p.R1055H	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1054					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTGTGGAGCACGACGCAAGTC	0.607													C|||	22	0.00439297	0.0166	0.0	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0				p.R1054H		Atlas-SNP	.											.	ITGA11	110	.	0			c.G3161A						PASS	.	C	HIS/ARG	64,4062		1,62,2000	37	38	38		3161	-0.7	0	15	dbSNP_134	38	0,8378		0,0,4189	yes	missense	ITGA11	NM_001004439.1	29	1,62,6189	TT,TC,CC		0.0,1.5511,0.5118	benign	1054/1189	68603345	64,12440	2063	4189	6252	SO:0001583	missense	22801	exon26			GGAGCACGACGCA	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3161G>A	15.37:g.68603345C>T	ENSP00000327290:p.Arg1054His	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	88	33	0.375	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	0.254	-1.004438	0.02112	0.015511	0.0	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.51325	0.71;0.8	4.72	-0.744	0.11101	.	0.394401	0.31051	N	0.008356	T	0.11024	0.0269	N	0.05383	-0.06	0.09310	N	0.99999	B;B	0.11235	0.0;0.004	B;B	0.08055	0.002;0.003	T	0.13522	-1.0506	10	0.23891	T	0.37	.	8.4623	0.32936	0.0:0.5066:0.0:0.4934	.	1054;1054	A8K8T0;Q9UKX5	.;ITA11_HUMAN	H	1054;1055;689	ENSP00000327290:R1054H;ENSP00000403392:R1055H	ENSP00000327290:R1054H	R	-	2	0	ITGA11	66390399	0.024000	0.19004	0.024000	0.17045	0.267000	0.26476	0.065000	0.14466	0.021000	0.15133	0.655000	0.94253	CGT	C|0.997;T|0.003	0.003	strong		0.607	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68603345	C	T	68603345	3	4	22	1	0	0	0	0	1	0	0	0	7874	536	19	1	425	1	ITGA11	15	68603345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1146010	68603345	33928047	7801	12909										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68605169	68605169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctccagcgagctgttgGgcttgacctcgtagtggctc	12	12	1	1	rs4777035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68605169G>A	ENST00000315757.7	-	24	3001	c.2915C>T	c.(2914-2916)cCc>cTc	p.P972L	ITGA11_ENST00000423218.2_Missense_Mutation_p.P972L	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	972			P -> L (in dbSNP:rs4777035). {ECO:0000269|PubMed:10464311, ECO:0000269|PubMed:10486209, ECO:0000269|Ref.4}.		cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CGAGCTGTTGGGCTTGACCTC	0.607													G|||	3588	0.716454	0.5371	0.7262	5008	,	,		17729	0.9375		0.5885	False		,,,				2504	0.8558				p.P972L		Atlas-SNP	.											.	ITGA11	110	.	0			c.C2915T						PASS	.	G	LEU/PRO	2300,1844		662,976,434	74	76	75		2915	5	1	15	dbSNP_111	75	5124,3314		1574,1976,669	yes	missense	ITGA11	NM_001004439.1	98	2236,2952,1103	AA,AG,GG		39.2747,44.4981,40.9951	benign	972/1189	68605169	7424,5158	2072	4219	6291	SO:0001583	missense	22801	exon24			CTGTTGGGCTTGA	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2915C>T	15.37:g.68605169G>A	ENSP00000327290:p.Pro972Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	131	45	0.343511	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	1503	0.6881868131868132	266	0.540650406504065	250	0.6906077348066298	536	0.9370629370629371	451	0.5949868073878628	G	17.60	3.430253	0.62844	0.555019	0.607253	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.41758	0.99;0.99	4.97	4.97	0.65823	Integrin alpha-2 (1);	0.459305	0.25478	N	0.030394	T	0.00012	0.0000	L	0.50333	1.59	0.21147	P	0.999779471	P;B	0.44478	0.836;0.273	P;B	0.56216	0.794;0.16	T	0.05225	-1.0898	9	0.36615	T	0.2	.	16.8179	0.85738	0.0:0.0:1.0:0.0	rs4777035;rs52836241;rs56600365;rs59029828;rs4777035	972;972	A8K8T0;Q9UKX5	.;ITA11_HUMAN	L	972;972;607	ENSP00000327290:P972L;ENSP00000403392:P972L	ENSP00000327290:P972L	P	-	2	0	ITGA11	66392223	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.333000	0.79214	2.307000	0.77673	0.561000	0.74099	CCC	G|0.313;A|0.686	0.686	strong		0.607	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68605169	G	A	68605169	3	1	22	1	0	0	0	0	1	0	0	0	7874	1232	43	2	679	2	ITGA11	15	68605169	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1824	68605169	33926223	7802	12910										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68609647	68609647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagctgacgttgcagacttGcttctggagcctcctctcct	9	13	2	2	rs2271725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68609647G>T	ENST00000315757.7	-	21	2757	c.2671C>A	c.(2671-2673)Caa>Aaa	p.Q891K	ITGA11_ENST00000423218.2_Missense_Mutation_p.Q891K	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	891			Q -> K (in dbSNP:rs2271725).		cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TTGCAGACTTGCTTCTGGAGC	0.602													T|||	819	0.163538	0.298	0.1556	5008	,	,		17941	0.2381		0.0268	False		,,,				2504	0.0511				p.Q891K		Atlas-SNP	.											.	ITGA11	110	.	0			c.C2671A						PASS	.	T	LYS/GLN	1069,3063		133,803,1130	143	157	153		2671	4.8	1	15	dbSNP_100	153	239,8157		4,231,3963	yes	missense	ITGA11	NM_001004439.1	53	137,1034,5093	TT,TG,GG		2.8466,25.8712,10.4406	benign	891/1189	68609647	1308,11220	2066	4198	6264	SO:0001583	missense	22801	exon21			AGACTTGCTTCTG	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2671C>A	15.37:g.68609647G>T	ENSP00000327290:p.Gln891Lys	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	142	52	0.366197	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	360	0.16483516483516483	155	0.3150406504065041	62	0.1712707182320442	126	0.2202797202797203	17	0.022427440633245383	T	0.013	-1.627285	0.00813	0.258712	0.028466	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.42900	0.96;0.96	4.79	4.79	0.61399	Integrin alpha-2 (1);	0.092215	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00583	-1.355	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37174	-0.9717	9	0.02654	T	1	.	11.0359	0.47799	0.0:0.0:0.1564:0.8436	rs2271725;rs2271725	891;891	A8K8T0;Q9UKX5	.;ITA11_HUMAN	K	891;891;526	ENSP00000327290:Q891K;ENSP00000403392:Q891K	ENSP00000327290:Q891K	Q	-	1	0	ITGA11	66396701	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	2.735000	0.47377	0.694000	0.31654	-0.363000	0.07495	CAA	G|0.833;T|0.167	0.167	strong		0.602	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68609647	G	T	68609647	3	4	22	1	0	0	0	0	1	0	0	0	7874	1328	46	4	935	4	ITGA11	15	68609647	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4478	68609647	33921745	7803	12911										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68612556	68612556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcaaactgcaggtttgcTgactgcgagatatttaggac	12	8	0	2	rs2271724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68612556T>C	ENST00000315757.7	-	20	2669	c.2583A>G	c.(2581-2583)tcA>tcG	p.S861S	ITGA11_ENST00000423218.2_Silent_p.S861S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	861					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCAGGTTTGCTGACTGCGAGA	0.582													T|||	997	0.199081	0.084	0.1441	5008	,	,		17219	0.5595		0.0308	False		,,,				2504	0.1953				p.S861S		Atlas-SNP	.											.	ITGA11	110	.	0			c.A2583G						PASS	.	T		293,3843		8,277,1783	58	59	59		2583	-10.8	0.1	15	dbSNP_100	59	242,8168		0,242,3963	no	coding-synonymous	ITGA11	NM_001004439.1		8,519,5746	CC,CT,TT		2.8775,7.0841,4.2643		861/1189	68612556	535,12011	2068	4205	6273	SO:0001819	synonymous_variant	22801	exon20			GTTTGCTGACTGC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2583A>G	15.37:g.68612556T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	118	56	0.474576	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																			T|0.827;C|0.173	0.173	strong		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		C	68612556	T	C	68612556	2	2	22	1	0	0	0	0	0	0	0	1	7874	1567	55	3		3	ITGA11	15	68612556	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2909	68612556	33918836	7804	12912										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68628049	68628049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattacctgctggccccgcaTagcctggtggatggtgaggc	14	12	0	1	rs2306024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68628049T>G	ENST00000315757.7	-	12	1497	c.1411A>C	c.(1411-1413)Atg>Ctg	p.M471L	ITGA11_ENST00000423218.2_Missense_Mutation_p.M471L	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	471			M -> L (in dbSNP:rs2306024).		cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGGCCCCGCATAGCCTGGTGG	0.637													G|||	555	0.110823	0.236	0.049	5008	,	,		19262	0.0962		0.0606	False		,,,				2504	0.0521				p.M471L		Atlas-SNP	.											.	ITGA11	110	.	0			c.A1411C						PASS	.	G	LEU/MET	779,3287		76,627,1330	28	35	32		1411	5.8	1	15	dbSNP_100	32	415,7947		7,401,3773	yes	missense	ITGA11	NM_001004439.1	15	83,1028,5103	GG,GT,TT		4.9629,19.1589,9.6073	benign	471/1189	68628049	1194,11234	2033	4181	6214	SO:0001583	missense	22801	exon12			CCCGCATAGCCTG	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1411A>C	15.37:g.68628049T>G	ENSP00000327290:p.Met471Leu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	223	0.1021062271062271	115	0.23373983739837398	22	0.06077348066298342	42	0.07342657342657342	44	0.05804749340369393	G	9.874	1.199726	0.22121	0.191589	0.049629	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.09073	3.02;3.02	5.77	5.77	0.91146	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00114	-2.085	0.47009	P	7.139999999999924E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43686	-0.9376	9	0.02654	T	1	.	15.5168	0.75830	0.0:0.0:0.8606:0.1394	rs2306024;rs52790479;rs60175306;rs2306024	471;471	A8K8T0;Q9UKX5	.;ITA11_HUMAN	L	471;471;106;471	ENSP00000327290:M471L;ENSP00000403392:M471L	ENSP00000327290:M471L	M	-	1	0	ITGA11	66415103	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	5.486000	0.66856	1.456000	0.47831	-0.121000	0.15023	ATG	T|0.895;G|0.105	0.105	strong		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		G	68628049	T	G	68628049	3	3	22	1	0	0	0	0	1	0	0	0	7874	1406	49	5	2231	5	ITGA11	15	68628049	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15493	68628049	33903343	7805	12913										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68631920	68631920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatgaccttcccggcactCgtctcctttagcacagctcc	8	16	1	1	rs9302249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68631920C>T	ENST00000315757.7	-	11	1280	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	ITGA11_ENST00000423218.2_Silent_p.T398T	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	398					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TCCCGGCACTCGTCTCCTTTA	0.582													C|||	302	0.0603035	0.2201	0.013	5008	,	,		17677	0.0		0.001	False		,,,				2504	0.001				p.T398T		Atlas-SNP	.											ITGA11,colon,carcinoma,-1,1	ITGA11	110	1	0			c.G1194A						PASS	.	C		666,3374		51,564,1405	69	75	73		1194	-3.1	0.2	15	dbSNP_119	73	4,8346		0,4,4171	no	coding-synonymous	ITGA11	NM_001004439.1		51,568,5576	TT,TC,CC		0.0479,16.4851,5.4076		398/1189	68631920	670,11720	2020	4175	6195	SO:0001819	synonymous_variant	22801	exon11			GGCACTCGTCTCC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1194G>A	15.37:g.68631920C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																			C|0.956;T|0.044	0.044	strong		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68631920	C	T	68631920	2	4	22	1	0	0	0	0	0	0	0	1	7874	871	31	1		1	ITGA11	15	68631920	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3871	68631920	33899472	7806	12914										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68650913	68650913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatgacgatgtccatgtaGgtctggcaccctggaaagtg	12	9	1	1	rs61729771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:68650913G>A	ENST00000315757.7	-	6	569	c.483C>T	c.(481-483)acC>acT	p.T161T	ITGA11_ENST00000423218.2_Silent_p.T161T|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	161					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGTCCATGTAGGTCTGGCACC	0.483													G|||	259	0.0517173	0.1853	0.0202	5008	,	,		22319	0.0		0.0	False		,,,				2504	0.0				p.T161T		Atlas-SNP	.											.	ITGA11	110	.	0			c.C483T						PASS	.	G		686,3688	269.5+/-269.1	42,602,1543	73	75	74		483	2.1	1	15	dbSNP_129	74	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	ITGA11	NM_001004439.1		42,606,5837	AA,AG,GG		0.0465,15.6836,5.32		161/1189	68650913	690,12280	2187	4298	6485	SO:0001819	synonymous_variant	22801	exon6			CATGTAGGTCTGG	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.483C>T	15.37:g.68650913G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																			G|0.956;A|0.044	0.044	strong		0.483	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68650913	G	A	68650913	2	1	22	1	0	0	0	0	0	0	0	1	7874	987	35	2		2	ITGA11	15	68650913	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18993	68650913	33880479	7807	12915										
CORO2B	10391	hgsc.bcm.edu	37	chr15	69006909	69006909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccctcaggaggacctctcCatgcccctgatcgaagagga	10	15	2	2	rs17852399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:69006909C>T	ENST00000566799.1	+	7	806	c.777C>T	c.(775-777)tcC>tcT	p.S259S	CORO2B_ENST00000543950.1_Silent_p.S254S|CORO2B_ENST00000540068.1_Silent_p.S254S|CORO2B_ENST00000261861.5_Silent_p.S254S			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	259					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACCTCTCCATGCCCCTGA	0.562													C|||	180	0.0359425	0.1225	0.0072	5008	,	,		18090	0.0		0.0109	False		,,,				2504	0.002				p.S259S		Atlas-SNP	.											.	CORO2B	68	.	0			c.C777T						PASS	.	C	,,	509,3891	235.2+/-247.8	28,453,1719	140	129	133		762,762,777	4.2	1	15	dbSNP_123	133	82,8514	46.7+/-105.8	0,82,4216	no	coding-synonymous,coding-synonymous,coding-synonymous	CORO2B	NM_001190456.1,NM_001190457.1,NM_006091.4	,,	28,535,5935	TT,TC,CC		0.9539,11.5682,4.5476	,,	254/476,254/476,259/481	69006909	591,12405	2200	4298	6498	SO:0001819	synonymous_variant	10391	exon7			CCTCTCCATGCCC	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.777C>T	15.37:g.69006909C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	163	84	0.515337	NM_006091	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																			C|0.955;T|0.045	0.045	strong		0.562	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		T	69006909	C	T	69006909	2	4	22	1	0	0	0	0	0	0	0	1	3757	581	21	2		2	CORO2B	15	69006909	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	355996	69006909	33524483	7808	12916										
GLCE	26035	hgsc.bcm.edu	37	chr15	69561181	69561181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtttctatctgagcagcaTggagttaaagctgtgtttat	10	5	2	1	rs56045514	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:69561181T>C	ENST00000261858.2	+	5	1680	c.1452T>C	c.(1450-1452)caT>caC	p.H484H	GLCE_ENST00000559420.2_Silent_p.H420H	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTGAGCAGCATGGAGTTAAAG	0.353													T|||	323	0.0644968	0.2383	0.0086	5008	,	,		21803	0.0		0.002	False		,,,				2504	0.0				p.H484H		Atlas-SNP	.											.	GLCE	48	.	0			c.T1452C						PASS	.	T		685,3715	279.6+/-274.9	68,549,1583	58	65	62		1452	-6.6	0.8	15	dbSNP_129	62	5,8591	3.7+/-12.6	0,5,4293	no	coding-synonymous	GLCE	NM_015554.1		68,554,5876	CC,CT,TT		0.0582,15.5682,5.3093		484/618	69561181	690,12306	2200	4298	6498	SO:0001819	synonymous_variant	26035	exon5			GCAGCATGGAGTT	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1452T>C	15.37:g.69561181T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	62	35	0.564516	NM_015554	Q6GUQ2	Silent	SNP	ENST00000261858.2	37	CCDS32277.1																																																																																			T|0.951;C|0.049	0.049	strong		0.353	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		C	69561181	T	C	69561181	2	2	22	1	0	0	0	0	0	0	0	1	6432	1461	51	2		2	GLCE	15	69561181	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	554272	69561181	32970211	7809	12917										
PAQR5	54852	hgsc.bcm.edu	37	chr15	69682021	69682021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgcctactctgcatacacGttcccggatgcgctcatgtg	9	13	2	0	rs12438855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:69682021G>A	ENST00000340965.3	+	6	1082	c.414G>A	c.(412-414)acG>acA	p.T138T	PAQR5_ENST00000395407.2_Silent_p.T138T|PAQR5_ENST00000561153.1_Silent_p.T138T|PAQR5_ENST00000561027.1_3'UTR|RP11-253M7.6_ENST00000560870.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	138					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTGCATACACGTTCCCGGATG	0.582													G|||	250	0.0499201	0.0416	0.0562	5008	,	,		20434	0.1151		0.0179	False		,,,				2504	0.0225				p.T138T		Atlas-SNP	.											PAQR5,caecum,carcinoma,+1,1	PAQR5	35	1	0			c.G414A						PASS	.	G	,	169,4231	112.9+/-151.0	5,159,2036	180	137	152		414,414	-4.6	0.5	15	dbSNP_120	152	91,8505	53.1+/-113.8	1,89,4208	no	coding-synonymous,coding-synonymous	PAQR5	NM_001104554.1,NM_017705.3	,	6,248,6244	AA,AG,GG		1.0586,3.8409,2.0006	,	138/331,138/331	69682021	260,12736	2200	4298	6498	SO:0001819	synonymous_variant	54852	exon6			ATACACGTTCCCG		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.414G>A	15.37:g.69682021G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	173	86	0.49711	NM_001104554	Q8IXU2	Silent	SNP	ENST00000340965.3	37	CCDS10232.1																																																																																			G|0.960;A|0.040	0.040	strong		0.582	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		A	69682021	G	A	69682021	2	1	22	1	0	0	0	0	0	0	0	1	11438	1132	40	1		1	PAQR5	15	69682021	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120840	69682021	32849371	7810	12918										
KIF23	9493	hgsc.bcm.edu	37	chr15	69709748	69709748	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtagggtgcgcccactgggCtttcctgatcaagagtgttg	14	9	1	2	rs3759826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:69709748C>A	ENST00000260363.4	+	3	225	c.108C>A	c.(106-108)ggC>ggA	p.G36G	RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000559279.1_Silent_p.G36G|KIF23_ENST00000395392.2_Silent_p.G36G|KIF23_ENST00000352331.4_Silent_p.G36G|RP11-253M7.1_ENST00000558617.1_RNA	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCCCACTGGGCTTTCCTGATC	0.423													C|||	676	0.134984	0.2504	0.1239	5008	,	,		17525	0.2014		0.0229	False		,,,				2504	0.0337				p.G36G		Atlas-SNP	.											.	KIF23	57	.	0			c.C108A						PASS	.	C	,	871,3527	339.1+/-305.6	80,711,1408	144	128	133		108,108	3.8	1	15	dbSNP_107	133	163,8433	76.6+/-139.3	0,163,4135	no	coding-synonymous,coding-synonymous	KIF23	NM_004856.5,NM_138555.2	,	80,874,5543	AA,AC,CC		1.8962,19.8045,7.9575	,	36/857,36/961	69709748	1034,11960	2199	4298	6497	SO:0001819	synonymous_variant	9493	exon3			ACTGGGCTTTCCT	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.108C>A	15.37:g.69709748C>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_138555	Q8WVP0	Silent	SNP	ENST00000260363.4	37	CCDS32278.1																																																																																			C|0.904;A|0.096	0.096	strong		0.423	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	69709748	C	A	69709748	2	1	22	1	0	0	0	0	0	0	0	1	8291	784	28	4		4	KIF23	15	69709748	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27727	69709748	32821644	7811	12919										
KIF23	9493	hgsc.bcm.edu	37	chr15	69714347	69714347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaggtcttctttttacataTggtgtgacgggaagtggaaa	13	4	2	1	rs34969957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:69714347T>C	ENST00000260363.4	+	5	450	c.333T>C	c.(331-333)taT>taC	p.Y111Y	KIF23_ENST00000352331.4_Silent_p.Y111Y|KIF23_ENST00000559279.1_Silent_p.Y111Y|KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000537891.1_5'Flank|KIF23_ENST00000395392.2_Silent_p.Y111Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	111	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTTTTACATATGGTGTGACGG	0.408													T|||	60	0.0119808	0.0401	0.0043	5008	,	,		17202	0.0		0.003	False		,,,				2504	0.001				p.Y111Y		Atlas-SNP	.											.	KIF23	57	.	0			c.T333C						PASS	.	T	,	162,4236	110.8+/-149.0	4,154,2041	110	88	96		333,333	-0.3	1	15	dbSNP_126	96	6,8590	5.0+/-18.6	0,6,4292	no	coding-synonymous,coding-synonymous	KIF23	NM_004856.5,NM_138555.2	,	4,160,6333	CC,CT,TT		0.0698,3.6835,1.2929	,	111/857,111/961	69714347	168,12826	2199	4298	6497	SO:0001819	synonymous_variant	9493	exon5			TACATATGGTGTG	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.333T>C	15.37:g.69714347T>C		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	180	90	0.5	NM_138555	Q8WVP0	Silent	SNP	ENST00000260363.4	37	CCDS32278.1																																																																																			T|0.985;C|0.015	0.015	strong		0.408	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	69714347	T	C	69714347	2	2	22	1	0	0	0	0	0	0	0	1	8291	1471	51	2		2	KIF23	15	69714347	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4599	69714347	32817045	7812	12920										
UACA	55075	hgsc.bcm.edu	37	chr15	70957106	70957106	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtgagttgggaaaggccAttgagtgcctgttttaatct	13	5	1	2	rs78551559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:70957106A>G	ENST00000322954.6	-	17	4193	c.4008T>C	c.(4006-4008)aaT>aaC	p.N1336N	UACA_ENST00000539319.1_Silent_p.N1227N|UACA_ENST00000379983.2_Silent_p.N1323N|UACA_ENST00000560441.1_Silent_p.N1321N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1336					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGAAAGGCCATTGAGTGCCT	0.413													A|||	83	0.0165735	0.0605	0.0043	5008	,	,		17428	0.0		0.0	False		,,,				2504	0.0				p.N1336N		Atlas-SNP	.											.	UACA	235	.	0			c.T4008C						PASS	.	A	,	203,4195	126.6+/-163.6	3,197,1999	150	127	135		3969,4008	-4.9	0	15	dbSNP_132	135	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	3,198,6296	GG,GA,AA		0.0116,4.6157,1.57	,	1323/1404,1336/1417	70957106	204,12790	2199	4298	6497	SO:0001819	synonymous_variant	55075	exon17			AAGGCCATTGAGT	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4008T>C	15.37:g.70957106A>G		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	203	101	0.497537	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																			A|0.983;G|0.017	0.017	strong		0.413	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			G	70957106	A	G	70957106	2	3	22	1	0	0	0	0	0	0	0	1	16821	214	8	2		2	UACA	15	70957106	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1242759	70957106	31574286	7813	12921										
UACA	55075	hgsc.bcm.edu	37	chr15	70959576	70959576	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaattgatgcagtttggtCactgtctgctgctctttctc	8	10	4	1	rs61746327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:70959576C>T	ENST00000322954.6	-	16	3632	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	UACA_ENST00000379983.2_Silent_p.V1136V|UACA_ENST00000560441.1_Silent_p.V1134V|UACA_ENST00000539319.1_Silent_p.V1040V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1149					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCAGTTTGGTCACTGTCTGCT	0.393													C|||	49	0.00978435	0.0356	0.0029	5008	,	,		20629	0.0		0.0	False		,,,				2504	0.0				p.V1149V		Atlas-SNP	.											.	UACA	235	.	0			c.G3447A						PASS	.	C	,	148,4250	100.7+/-139.4	1,146,2052	179	178	179		3408,3447	4.7	0.8	15	dbSNP_129	179	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	1,146,6349	TT,TC,CC		0.0,3.3652,1.1392	,	1136/1404,1149/1417	70959576	148,12844	2199	4297	6496	SO:0001819	synonymous_variant	55075	exon16			TTTGGTCACTGTC	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3447G>A	15.37:g.70959576C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	161	68	0.42236	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																			C|0.989;T|0.011	0.011	strong		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70959576	C	T	70959576	2	4	22	1	0	0	0	0	0	0	0	1	16821	813	29	2		2	UACA	15	70959576	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2470	70959576	31571816	7814	12922										
UACA	55075	hgsc.bcm.edu	37	chr15	70960422	70960422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcattcagtgtcattttaacCtcttcatgggttttaactgg	7	8	5	0	rs61742861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:70960422C>T	ENST00000322954.6	-	16	2786	c.2601G>A	c.(2599-2601)gaG>gaA	p.E867E	UACA_ENST00000560441.1_Silent_p.E852E|UACA_ENST00000539319.1_Silent_p.E758E|UACA_ENST00000379983.2_Silent_p.E854E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	867					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCATTTTAACCTCTTCATGGG	0.333													C|||	75	0.014976	0.0552	0.0029	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.0				p.E867E		Atlas-SNP	.											.	UACA	235	.	0			c.G2601A						PASS	.	C	,	195,4201	120.0+/-157.7	3,189,2006	96	90	92		2562,2601	2.6	0.6	15	dbSNP_129	92	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	3,190,6303	TT,TC,CC		0.0116,4.4359,1.5086	,	854/1404,867/1417	70960422	196,12796	2198	4298	6496	SO:0001819	synonymous_variant	55075	exon16			TTTAACCTCTTCA	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2601G>A	15.37:g.70960422C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																			C|0.985;T|0.015	0.015	strong		0.333	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70960422	C	T	70960422	2	4	22	1	0	0	0	0	0	0	0	1	16821	680	24	2		2	UACA	15	70960422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	846	70960422	31570970	7815	12923										
UACA	55075	hgsc.bcm.edu	37	chr15	70968850	70968850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcaaaatatttaaatctAtttttcagagcctcaatagt	3	8	4	1	rs61741196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:70968850A>G	ENST00000322954.6	-	13	1298	c.1113T>C	c.(1111-1113)aaT>aaC	p.N371N	UACA_ENST00000560441.1_Silent_p.N358N|UACA_ENST00000539319.1_Silent_p.N262N|UACA_ENST00000379983.2_Silent_p.N358N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	371					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTAAATCTATTTTTCAGAG	0.318													A|||	49	0.00978435	0.0356	0.0029	5008	,	,		16930	0.0		0.0	False		,,,				2504	0.0				p.N371N		Atlas-SNP	.											.	UACA	235	.	0			c.T1113C						PASS	.	A	,	142,4254	98.0+/-136.7	1,140,2057	61	63	62		1074,1113	-5.5	0.7	15	dbSNP_129	62	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	1,140,6349	GG,GA,AA		0.0,3.2302,1.094	,	358/1404,371/1417	70968850	142,12838	2198	4292	6490	SO:0001819	synonymous_variant	55075	exon13			AAATCTATTTTTC	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1113T>C	15.37:g.70968850A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	52	30	0.576923	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																			A|0.989;G|0.011	0.011	strong		0.318	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			G	70968850	A	G	70968850	2	3	22	1	0	0	0	0	0	0	0	1	16821	446	16	2		2	UACA	15	70968850	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8428	70968850	31562542	7816	12924										
LARP6	55323	hgsc.bcm.edu	37	chr15	71128691	71128691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagcttgttcctcctcacGtgttttagcaaaaaggcgtc	8	13	1	0	rs78188777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:71128691G>A	ENST00000299213.8	-	2	424	c.354C>T	c.(352-354)caC>caT	p.H118H		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	118	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCTCCTCACGTGTTTTAGCA	0.453													G|||	79	0.0157748	0.0567	0.0058	5008	,	,		20033	0.0		0.0	False		,,,				2504	0.0				p.H118H		Atlas-SNP	.											.	LARP6	43	.	0			c.C354T						PASS	.	G		219,4179	132.1+/-168.6	5,209,1985	124	123	123		354	-3.1	1	15	dbSNP_132	123	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	LARP6	NM_018357.2		5,210,6281	AA,AG,GG		0.0116,4.9795,1.6933		118/492	71128691	220,12772	2199	4297	6496	SO:0001819	synonymous_variant	55323	exon2			CCTCACGTGTTTT	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.354C>T	15.37:g.71128691G>A		Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	206	93	0.451456	NM_018357	Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	CCDS32281.1																																																																																			G|0.984;A|0.016	0.016	strong		0.453	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		A	71128691	G	A	71128691	2	1	22	1	0	0	0	0	0	0	0	1	8632	1136	40	1		1	LARP6	15	71128691	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159841	71128691	31402701	7817	12925										
THSD4	79875	hgsc.bcm.edu	37	chr15	72040774	72040774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagtgctcggtgccctgCggcgtgggacagaggacccg	16	12	1	1	rs1872056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:72040774C>T	ENST00000355327.3	+	14	2390	c.2256C>T	c.(2254-2256)tgC>tgT	p.C752C	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.C392C|THSD4_ENST00000261862.6_Silent_p.C752C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	752	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGTGCCCTGCGGCGTGGGAC	0.562													C|||	998	0.199281	0.3086	0.147	5008	,	,		19695	0.0823		0.2644	False		,,,				2504	0.1421				p.C752C		Atlas-SNP	.											.	THSD4	75	.	0			c.C2256T						PASS	.	C		1281,3079		190,901,1089	121	135	130		2256	-8.4	0.6	15	dbSNP_92	130	2145,6401		312,1521,2440	no	coding-synonymous	THSD4	NM_024817.2		502,2422,3529	TT,TC,CC		25.0995,29.3807,26.5458		752/1019	72040774	3426,9480	2180	4273	6453	SO:0001819	synonymous_variant	79875	exon13			GCCCTGCGGCGTG	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2256C>T	15.37:g.72040774C>T		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	230	230	1	NM_024817	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																			C|0.782;T|0.218	0.218	strong		0.562	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	72040774	C	T	72040774	2	4	22	1	0	0	0	0	0	0	0	1	15875	776	27	1		1	THSD4	15	72040774	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	912083	72040774	30490618	7818	12926										
BBS4	585	hgsc.bcm.edu	37	chr15	73027478	73027478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaccaatctggaagataTagaaaatgccaagagagcct	9	8	2	4	rs2277598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:73027478T>C	ENST00000268057.4	+	13	1102	c.1061T>C	c.(1060-1062)aTa>aCa	p.I354T	BBS4_ENST00000542334.1_Missense_Mutation_p.I182T|BBS4_ENST00000395205.2_Missense_Mutation_p.I362T|BBS4_ENST00000539603.1_Missense_Mutation_p.I342T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	354	Required for localization to centrosomes.		I -> T (in dbSNP:rs2277598). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}.		adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTGGAAGATATAGAAAATGCC	0.473									Bardet-Biedl syndrome				T|||	2148	0.428914	0.2413	0.4841	5008	,	,		21567	0.256		0.6561	False		,,,				2504	0.5879				p.I354T		Atlas-SNP	.											.	BBS4	34	.	0			c.T1061C						PASS	.	T	THR/ILE	1416,2980	463.0+/-353.4	232,952,1014	74	69	71	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1061	-4.4	0	15	dbSNP_100	71	5504,3090	660.1+/-401.7	1783,1938,576	yes	missense	BBS4	NM_033028.3	89	2015,2890,1590	CC,CT,TT		35.9553,32.2111,46.7283	benign	354/520	73027478	6920,6070	2198	4297	6495	SO:0001583	missense	585	exon13	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAGATATAGAAAA	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1061T>C	15.37:g.73027478T>C	ENSP00000268057:p.Ile354Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_033028	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	985	0.451007326007326	137	0.2784552845528455	209	0.5773480662983426	144	0.2517482517482518	495	0.6530343007915568	T	7.460	0.644540	0.14451	0.322111	0.640447	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.78003	0.7;-1.14;-1.14;-1.14	5.06	-4.41	0.03590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.024970	0.07731	N	0.945276	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.41106	-0.9527	9	0.28530	T	0.3	6.1291	9.4164	0.38523	0.0:0.4506:0.1014:0.448	rs2277598;rs17754163;rs17852451;rs52833624;rs57144099;rs2277598	342;354;362;354	F5H7I8;B2RB60;Q96RK4-2;Q96RK4	.;.;.;BBS4_HUMAN	T	182;354;342;362	ENSP00000445964:I182T;ENSP00000268057:I354T;ENSP00000442492:I342T;ENSP00000378631:I362T	ENSP00000268057:I354T	I	+	2	0	BBS4	70814531	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-0.246000	0.08878	-0.575000	0.05982	-0.304000	0.09214	ATA	T|0.511;C|0.489	0.489	strong		0.473	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		C	73027478	T	C	73027478	3	2	22	1	0	0	0	0	1	0	0	0	1339	1406	49	2	1111	2	BBS4	15	73027478	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	986704	73027478	29503914	7819	12927										
HCN4	10021	hgsc.bcm.edu	37	chr15	73617723	73617723	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtgctcgtagtagtcgtgGatgcgctgccgggtgtcggg	19	9	0	0	rs141966309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:73617723G>T	ENST00000261917.3	-	5	2646	c.1653C>A	c.(1651-1653)atC>atA	p.I551I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	551					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTAGTCGTGGATGCGCTGCC	0.647													g|||	7	0.00139776	0.0053	0.0	5008	,	,		16066	0.0		0.0	False		,,,				2504	0.0				p.I551I		Atlas-SNP	.											.	HCN4	150	.	0			c.C1653A						PASS	.	G		23,4373	30.8+/-60.4	1,21,2176	107	111	110		1653	3.3	1	15	dbSNP_134	110	0,8594		0,0,4297	no	coding-synonymous	HCN4	NM_005477.2		1,21,6473	TT,TG,GG		0.0,0.5232,0.1771		551/1204	73617723	23,12967	2198	4297	6495	SO:0001819	synonymous_variant	10021	exon5			GTCGTGGATGCGC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1653C>A	15.37:g.73617723G>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	196	94	0.479592	NM_005477	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																			G|0.998;T|0.002	0.002	strong		0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617723	G	T	73617723	2	4	22	1	0	0	0	0	0	0	0	1	6999	1164	41	4		4	HCN4	15	73617723	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	590245	73617723	28913669	7820	12928										
NPTN	27020	hgsc.bcm.edu	37	chr15	73862606	73862606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggggccaggtggctccgCaccctgaggacagtgacaac	15	12	0	2	rs35100473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:73862606C>T	ENST00000345330.4	-	6	1196	c.999G>A	c.(997-999)gtG>gtA	p.V333V	NPTN_ENST00000564551.1_5'Flank|NPTN_ENST00000287226.8_Missense_Mutation_p.C317Y|NPTN_ENST00000545878.1_Silent_p.V333V|NPTN_ENST00000542234.1_Silent_p.V128V|NPTN_ENST00000562924.1_Silent_p.V217V|NPTN_ENST00000563691.1_Silent_p.V333V|NPTN_ENST00000351217.6_Silent_p.V217V	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	333					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGTGGCTCCGCACCCTGAGGA	0.522													C|||	57	0.0113818	0.0393	0.0043	5008	,	,		16485	0.0		0.002	False		,,,				2504	0.0				p.V333V	Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	Atlas-SNP	.											.	NPTN	35	.	0			c.G999A						PASS	.	C	,,,	139,4257	100.3+/-138.9	3,133,2062	80	75	76		999,651,999,651	0.3	1	15	dbSNP_126	76	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPTN	NM_001161363.1,NM_001161364.1,NM_012428.3,NM_017455.3	,,,	3,133,6359	TT,TC,CC		0.0,3.162,1.0701	,,,	333/395,217/279,333/399,217/283	73862606	139,12851	2198	4297	6495	SO:0001819	synonymous_variant	27020	exon6			GCTCCGCACCCTG	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17867	protein-coding gene	gene with protein product		612820	"stromal cell derived factor receptor 1"	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.999G>A	15.37:g.73862606C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	187	103	0.550802	NM_001161363	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	ENST00000345330.4	37	CCDS10249.1	21	0.009615384615384616	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	16.12	3.034197	0.54896	0.03162	0.0	ENSG00000156642	ENST00000287226	T	0.67171	-0.25	5.6	0.321	0.15883	.	.	.	.	.	T	0.33411	0.0862	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.54516	-0.8282	6	0.87932	D	0	.	3.2099	0.06678	0.1208:0.4314:0.1233:0.3246	rs35100473	.	.	.	Y	317	ENSP00000287226:C317Y	ENSP00000287226:C317Y	C	-	2	0	NPTN	71649659	0.657000	0.27393	1.000000	0.80357	0.994000	0.84299	-0.201000	0.09464	0.055000	0.16094	-0.345000	0.07892	TGC	C|0.988;G|0.000;T|0.012	0.012	strong		0.522	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		T	73862606	C	T	73862606	2	4	22	1	0	0	0	0	0	0	0	1	10601	697	25	2		2	NPTN	15	73862606	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	244883	73862606	28668786	7821	12929										
LOXL1	4016	hgsc.bcm.edu	37	chr15	74219582	74219582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccagcaacggcacggggGctccgcctcctcggtctcgg	13	18	1	0	rs3825942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74219582G>A	ENST00000261921.7	+	1	784	c.458G>A	c.(457-459)gGc>gAc	p.G153D	LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	153			G -> D (associated with exfoliation syndrome in the presence of L-141; dbSNP:rs3825942). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17690259}.		extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGCACGGGGGCTCCGCCTCC	0.731													G|||	1240	0.247604	0.41	0.1686	5008	,	,		5995	0.1399		0.1769	False		,,,				2504	0.2679				p.G153D		Atlas-SNP	.											.	LOXL1	25	.	0			c.G458A	GRCh37	CM074330	LOXL1	M	rs3825942	PASS	.	G	ASP/GLY	1563,2767		299,965,901	20	25	24	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	458	3.2	1	15	dbSNP_107	24	1231,7241		106,1019,3111	no	missense	LOXL1	NM_005576.2	94	405,1984,4012	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	14.5302,36.097,21.8247	possibly-damaging	153/575	74219582	2794,10008	2165	4236	6401	SO:0001583	missense	4016	exon1			ACGGGGGCTCCGC	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.458G>A	15.37:g.74219582G>A	ENSP00000261921:p.Gly153Asp	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_005576	Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	CCDS10253.1	491	0.22481684981684982	203	0.41260162601626016	71	0.19613259668508287	78	0.13636363636363635	139	0.18337730870712401	G	18.67	3.673592	0.67928	0.36097	0.145302	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.32988	1.43	4.1	3.17	0.36434	.	0.201537	0.31936	N	0.006833	T	0.00012	0.0000	L	0.40543	1.245	0.25425	P	0.9882311	B	0.06786	0.001	B	0.06405	0.002	T	0.44003	-0.9356	9	0.36615	T	0.2	.	5.5084	0.16866	0.2367:0.0:0.7633:0.0	rs3825942;rs3825942	153	Q08397	LOXL1_HUMAN	D	153;15	ENSP00000261921:G153D	ENSP00000261921:G153D	G	+	2	0	LOXL1	72006635	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.700000	0.47085	1.818000	0.53035	0.448000	0.29417	GGC	G|0.767;A|0.233	0.233	strong		0.731	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		A	74219582	G	A	74219582	3	1	22	1	0	0	0	0	1	0	0	0	8899	1203	42	2	460	2	LOXL1	15	74219582	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	356976	74219582	28311810	7822	12930										
ISLR2	57611	hgsc.bcm.edu	37	chr15	74425410	74425410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcagctcaagaacctcgaTctgagccacaacttcatatc	6	13	4	2	rs3743207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74425410T>C	ENST00000361742.3	+	4	1084	c.315T>C	c.(313-315)gaT>gaC	p.D105D	ISLR2_ENST00000445793.1_Silent_p.D105D|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.D105D|ISLR2_ENST00000419208.1_Silent_p.D105D|ISLR2_ENST00000453268.2_Silent_p.D105D|ISLR2_ENST00000565159.1_Silent_p.D105D|ISLR2_ENST00000435464.1_Silent_p.D105D	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	105					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AGAACCTCGATCTGAGCCACA	0.617													C|||	508	0.101438	0.2897	0.0418	5008	,	,		18438	0.0427		0.0209	False		,,,				2504	0.0327				p.D105D		Atlas-SNP	.											.	ISLR2	78	.	0			c.T315C						PASS	.	C	,,,	1118,3278	709.8+/-407.8	140,838,1220	77	71	73		315,315,315,315	2.8	1	15	dbSNP_107	73	133,8461	807.3+/-407.2	0,133,4164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ISLR2	NM_001130136.1,NM_001130137.1,NM_001130138.1,NM_020851.2	,,,	140,971,5384	CC,CT,TT		1.5476,25.4322,9.6305	,,,	105/746,105/746,105/746,105/746	74425410	1251,11739	2198	4297	6495	SO:0001819	synonymous_variant	57611	exon4			CCTCGATCTGAGC		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.315T>C	15.37:g.74425410T>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	57	28	0.491228	NM_001130138	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																			T|0.898;C|0.102	0.102	strong		0.617	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		C	74425410	T	C	74425410	2	2	22	1	0	0	0	0	0	0	0	1	7859	1432	50	2		2	ISLR2	15	74425410	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	205828	74425410	28105982	7823	12931										
ISLR2	57611	hgsc.bcm.edu	37	chr15	74425505	74425505	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccacaaccgcctgggctCtctgccccgggacgcactcg	11	18	1	0	rs3889598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74425505C>T	ENST00000361742.3	+	4	1179	c.410C>T	c.(409-411)tCt>tTt	p.S137F	ISLR2_ENST00000445793.1_Missense_Mutation_p.S137F|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.S137F|ISLR2_ENST00000419208.1_Missense_Mutation_p.S137F|ISLR2_ENST00000453268.2_Missense_Mutation_p.S137F|ISLR2_ENST00000565159.1_Missense_Mutation_p.S137F|ISLR2_ENST00000435464.1_Missense_Mutation_p.S137F	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	137			S -> F (in dbSNP:rs3889598).		positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCCTGGGCTCTCTGCCCCGG	0.632													C|||	176	0.0351438	0.0484	0.0274	5008	,	,		20350	0.0427		0.0179	False		,,,				2504	0.0327				p.S137F		Atlas-SNP	.											ISLR2,rectum,carcinoma,0,2	ISLR2	78	2	0			c.C410T						PASS	.	C	PHE/SER,PHE/SER,PHE/SER,PHE/SER	182,4214	115.0+/-153.0	1,180,2017	57	60	59		410,410,410,410	4.5	1	15	dbSNP_108	59	123,8471	62.4+/-124.4	0,123,4174	yes	missense,missense,missense,missense	ISLR2	NM_001130136.1,NM_001130137.1,NM_001130138.1,NM_020851.2	155,155,155,155	1,303,6191	TT,TC,CC		1.4312,4.1401,2.348	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	137/746,137/746,137/746,137/746	74425505	305,12685	2198	4297	6495	SO:0001583	missense	57611	exon4			TGGGCTCTCTGCC		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.410C>T	15.37:g.74425505C>T	ENSP00000355402:p.Ser137Phe	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_001130138	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	76	0.0347985347985348	35	0.07113821138211382	9	0.024861878453038673	20	0.03496503496503497	12	0.0158311345646438	C	8.408	0.843473	0.16963	0.041401	0.014312	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	4.46	4.46	0.54185	.	0.318283	0.29417	U	0.012202	T	0.04272	0.0118	L	0.42632	1.34	0.38781	D	0.95476	B	0.29232	0.238	B	0.27380	0.079	T	0.07693	-1.0759	10	0.37606	T	0.19	.	8.8313	0.35085	0.2745:0.5872:0.1383:0.0	rs3889598;rs4556747;rs3889598	137	Q6UXK2	ISLR2_HUMAN	F	137	ENSP00000403244:S137F;ENSP00000355402:S137F;ENSP00000411443:S137F;ENSP00000411834:S137F;ENSP00000408872:S137F	ENSP00000355402:S137F	S	+	2	0	ISLR2	72212558	0.002000	0.14202	0.979000	0.43373	0.867000	0.49689	0.610000	0.24253	2.042000	0.60477	0.407000	0.27541	TCT	C|0.973;T|0.027	0.027	strong		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		T	74425505	C	T	74425505	3	4	22	1	0	0	0	0	1	0	0	0	7859	913	32	2	412	2	ISLR2	15	74425505	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95	74425505	28105887	7824	12932										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74703022	74703022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccccagccagagggaggcGgccagggcacaggcatgacc	15	15	0	2	rs2075592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74703022G>A	ENST00000261918.4	-	14	2492	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	SEMA7A_ENST00000543145.2_Silent_p.A634A|SEMA7A_ENST00000542748.1_Silent_p.A483A	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	648					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGAGGGAGGCGGCCAGGGCAC	0.687													G|||	910	0.181709	0.4002	0.036	5008	,	,		16063	0.1915		0.0467	False		,,,				2504	0.1186				p.A648A		Atlas-SNP	.											.	SEMA7A	58	.	0			c.C1944T						PASS	.	G	,,	1413,2981	431.6+/-343.0	229,955,1013	43	45	44		1902,1449,1944	-9.1	0	15	dbSNP_96	44	390,8196	120.6+/-179.8	13,364,3916	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	242,1319,4929	AA,AG,GG		4.5423,32.1575,13.8906	,,	634/653,483/502,648/667	74703022	1803,11177	2197	4293	6490	SO:0001819	synonymous_variant	8482	exon14			GGAGGCGGCCAGG	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1944C>T	15.37:g.74703022G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.857;A|0.143	0.143	strong		0.687	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		A	74703022	G	A	74703022	2	1	22	1	0	0	0	0	0	0	0	1	14043	1103	39	1		1	SEMA7A	15	74703022	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	277517	74703022	27828370	7825	12933										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74706943	74706943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctggcttgcatgcggtgGacggccactttctggtagtg	16	9	1	0	rs1046146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74706943G>A	ENST00000261918.4	-	10	1787	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	SEMA7A_ENST00000543145.2_Silent_p.V399V|SEMA7A_ENST00000542748.1_Silent_p.V248V	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	413	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCATGCGGTGGACGGCCACTT	0.572													G|||	922	0.184105	0.3986	0.036	5008	,	,		17268	0.1915		0.0467	False		,,,				2504	0.1329				p.V413V		Atlas-SNP	.											.	SEMA7A	58	.	0			c.C1239T						PASS	.	G	,,	1418,2976	463.0+/-353.4	231,956,1010	98	103	101		1197,744,1239	-6.2	0.7	15	dbSNP_86	101	392,8200	125.5+/-184.1	13,366,3917	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	244,1322,4927	AA,AG,GG		4.5624,32.2713,13.9381	,,	399/653,248/502,413/667	74706943	1810,11176	2197	4296	6493	SO:0001819	synonymous_variant	8482	exon10			GCGGTGGACGGCC	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1239C>T	15.37:g.74706943G>A		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	215	95	0.44186	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.846;A|0.154	0.154	strong		0.572	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		A	74706943	G	A	74706943	2	1	22	1	0	0	0	0	0	0	0	1	14043	1161	41	2		2	SEMA7A	15	74706943	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3921	74706943	27824449	7826	12934										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74709975	74709975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtccgggctgaagggggcGtagcctctcatctcgccaag	14	13	2	1	rs2075589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:74709975G>A	ENST00000261918.4	-	5	1055	c.507C>T	c.(505-507)taC>taT	p.Y169Y	SEMA7A_ENST00000542748.1_Silent_p.Y4Y|SEMA7A_ENST00000543145.2_Silent_p.Y155Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGAAGGGGGCGTAGCCTCTCA	0.607													A|||	1107	0.221046	0.3631	0.0893	5008	,	,		20035	0.3046		0.1103	False		,,,				2504	0.1503				p.Y169Y		Atlas-SNP	.											.	SEMA7A	58	.	0			c.C507T						PASS	.	A	,,	1463,2931	677.2+/-403.4	239,985,973	46	45	45		465,12,507	3.5	1	15	dbSNP_96	45	977,7615	771.7+/-407.7	51,875,3370	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	290,1860,4343	AA,AG,GG		11.371,33.2954,18.7895	,,	155/653,4/502,169/667	74709975	2440,10546	2197	4296	6493	SO:0001819	synonymous_variant	8482	exon5			GGGGGCGTAGCCT	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.507C>T	15.37:g.74709975G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	25	13	0.52	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.799;A|0.201	0.201	strong		0.607	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		A	74709975	G	A	74709975	2	1	22	1	0	0	0	0	0	0	0	1	14043	1140	40	1		1	SEMA7A	15	74709975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3032	74709975	27821417	7827	12935										
CYP1A2	1544	hgsc.bcm.edu	37	chr15	75043592	75043592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaggggcctagagccagCggcaacctcatcccacagga	12	13	1	2	rs17861157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75043592C>A	ENST00000343932.4	+	3	957	c.894C>A	c.(892-894)agC>agA	p.S298R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	298			S -> R (in dbSNP:rs17861157). {ECO:0000269|PubMed:15469410}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CTAGAGCCAGCGGCAACCTCA	0.562													C|||	120	0.0239617	0.0893	0.0029	5008	,	,		21893	0.0		0.0	False		,,,				2504	0.0				p.S298R		Atlas-SNP	.											.	CYP1A2	70	.	0			c.C894A						PASS	.	C	ARG/SER	308,4086	164.7+/-196.3	7,294,1896	138	110	120		894	-9.7	0	15	dbSNP_123	120	2,8590	2.2+/-6.3	0,2,4294	yes	missense	CYP1A2	NM_000761.3	110	7,296,6190	AA,AC,CC		0.0233,7.0096,2.3872	benign	298/517	75043592	310,12676	2197	4296	6493	SO:0001583	missense	1544	exon3			AGCCAGCGGCAAC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.894C>A	15.37:g.75043592C>A	ENSP00000342007:p.Ser298Arg	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_000761	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	41	0.018772893772893772	41	0.08333333333333333	0	0.0	0	0.0	0	0.0	C	12.56	1.975261	0.34848	0.070096	2.33E-4	ENSG00000140505	ENST00000343932	T	0.79653	-1.29	4.85	-9.7	0.00521	.	0.549195	0.21605	N	0.071895	T	0.06962	0.0177	L	0.27053	0.805	0.09310	N	1	B	0.31174	0.311	B	0.28784	0.094	T	0.38112	-0.9676	10	0.59425	D	0.04	.	8.7855	0.34818	0.0:0.2777:0.1818:0.5405	rs17861157;rs56991650	298	P05177-2	.	R	298	ENSP00000342007:S298R	ENSP00000342007:S298R	S	+	3	2	CYP1A2	72830645	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-4.224000	0.00271	-3.301000	0.00192	-0.369000	0.07265	AGC	C|0.973;A|0.027	0.027	strong		0.562	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75043592	C	A	75043592	3	1	22	1	0	0	0	0	1	0	0	0	4150	767	27	4	900	4	CYP1A2	15	75043592	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	333617	75043592	27487800	7828	12936										
LMAN1L	79748	hgsc.bcm.edu	37	chr15	75111530	75111530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcactcccagtgatccagGtgagttctgtgtggatgtgg	13	10	2	2	rs62621375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75111530G>A	ENST00000309664.5	+	6	774	c.635G>A	c.(634-636)gGt>gAt	p.G212D	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G212D|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	212	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTGATCCAGGTGAGTTCTGT	0.612													A|||	374	0.0746805	0.2723	0.0144	5008	,	,		19129	0.001		0.003	False		,,,				2504	0.0				p.G212D		Atlas-SNP	.											.	LMAN1L	43	.	0			c.G635A						PASS	.	A	ASP/GLY	1009,3385	728.8+/-410.0	126,757,1314	207	185	193		635	5.7	0	15	dbSNP_129	193	6,8586	818.6+/-406.8	0,6,4290	yes	missense	LMAN1L	NM_021819.2	94	126,763,5604	AA,AG,GG		0.0698,22.9631,7.8161	benign	212/527	75111530	1015,11971	2197	4296	6493	SO:0001583	missense	79748	exon6			ATCCAGGTGAGTT	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.635G>A	15.37:g.75111530G>A	ENSP00000310431:p.Gly212Asp	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	225	224	0.995556	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	151	0.06913919413919414	143	0.29065040650406504	5	0.013812154696132596	1	0.0017482517482517483	2	0.002638522427440633	A	4.989	0.183651	0.09495	0.229631	6.98E-4	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.63255	-0.03;-0.03	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.744014	0.12971	N	0.424120	T	0.00012	0.0000	N	0.00072	-2.265	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.20174	-1.0283	8	.	.	.	.	8.6109	0.33801	0.9131:0.0:0.0869:0.0	rs62621375	104;212;140;212	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	D	212;104;212	ENSP00000310431:G212D;ENSP00000369031:G212D	.	G	+	2	0	LMAN1L	72898583	0.706000	0.27856	0.008000	0.14137	0.095000	0.18619	2.764000	0.47613	0.987000	0.38709	-0.332000	0.08345	GGT	G|0.924;A|0.076	0.076	strong		0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75111530	G	A	75111530	3	1	22	1	0	0	0	0	1	0	0	0	8837	1261	44	2	657	2	LMAN1L	15	75111530	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67938	75111530	27419862	7829	12937										
LMAN1L	79748	hgsc.bcm.edu	37	chr15	75113083	75113083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaggatgtaactccaaaAtcagactctgaagctcaagg	11	8	3	2	rs1531163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75113083A>G	ENST00000309664.5	+	8	1021	c.882A>G	c.(880-882)aaA>aaG	p.K294K	LMAN1L_ENST00000379709.3_Silent_p.K282K|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	294						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAACTCCAAAATCAGACTCTG	0.617													G|||	1299	0.259385	0.4297	0.1239	5008	,	,		19876	0.1746		0.0517	False		,,,				2504	0.4264				p.K294K		Atlas-SNP	.											.	LMAN1L	43	.	0			c.A882G						PASS	.	G		1596,2798	663.2+/-401.2	315,966,916	76	76	76		882	-1.3	0	15	dbSNP_88	76	336,8256	804.1+/-407.3	5,326,3965	no	coding-synonymous	LMAN1L	NM_021819.2		320,1292,4881	GG,GA,AA		3.9106,36.3223,14.8776		294/527	75113083	1932,11054	2197	4296	6493	SO:0001819	synonymous_variant	79748	exon8			TCCAAAATCAGAC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.882A>G	15.37:g.75113083A>G		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	32	32	1	NM_021819	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																			A|0.825;G|0.175	0.175	strong		0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			G	75113083	A	G	75113083	2	3	22	1	0	0	0	0	0	0	0	1	8837	98	4	2		2	LMAN1L	15	75113083	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1553	75113083	27418309	7830	12938										
LMAN1L	79748	hgsc.bcm.edu	37	chr15	75116009	75116009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcctcctgcaggaggagCttcggggcccggcggtgagg	20	11	0	1	rs114366521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75116009C>T	ENST00000309664.5	+	12	1448	c.1309C>T	c.(1309-1311)Ctt>Ttt	p.L437F	LMAN1L_ENST00000379709.3_Missense_Mutation_p.L425F|CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	437						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGAGGAGCTTCGGGGCCC	0.622													C|||	107	0.0213658	0.0802	0.0014	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0				p.L437F		Atlas-SNP	.											.	LMAN1L	43	.	0			c.C1309T						PASS	.	C	PHE/LEU	273,4121	151.4+/-185.3	7,259,1931	48	49	49		1309	2.4	0.1	15	dbSNP_132	49	2,8588	2.2+/-6.3	0,2,4293	yes	missense	LMAN1L	NM_021819.2	22	7,261,6224	TT,TC,CC		0.0233,6.213,2.118	probably-damaging	437/527	75116009	275,12709	2197	4295	6492	SO:0001583	missense	79748	exon12			GAGGAGCTTCGGG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1309C>T	15.37:g.75116009C>T	ENSP00000310431:p.Leu437Phe	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	40	0.018315018315018316	40	0.08130081300813008	0	0.0	0	0.0	0	0.0	C	9.345	1.064140	0.20067	0.06213	2.33E-4	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.44482	0.98;0.92	4.29	2.38	0.29361	.	0.262772	0.25414	N	0.030848	T	0.02727	0.0082	N	0.22421	0.69	0.20821	N	0.999843	D;D	0.61080	0.989;0.982	P;P	0.59487	0.858;0.726	T	0.00995	-1.1487	10	0.72032	D	0.01	.	7.9218	0.29850	0.1831:0.6403:0.1766:0.0	.	425;437	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	F	437;425	ENSP00000310431:L437F;ENSP00000369031:L425F	ENSP00000310431:L437F	L	+	1	0	LMAN1L	72903062	0.225000	0.23685	0.138000	0.22173	0.009000	0.06853	1.393000	0.34497	0.530000	0.28619	-0.226000	0.12346	CTT	C|0.981;T|0.019	0.019	strong		0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			T	75116009	C	T	75116009	3	4	22	1	0	0	0	0	1	0	0	0	8837	797	28	2	1355	2	LMAN1L	15	75116009	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2926	75116009	27415383	7831	12939										
SCAMP5	192683	hgsc.bcm.edu	37	chr15	75305040	75305040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtgaacaacttcccaccAttgcccaaattcatcccgct	4	15	1	1	rs7174129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75305040A>G	ENST00000361900.6	+	4	237	c.30A>G	c.(28-30)ccA>ccG	p.P10P	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Silent_p.P10P|SCAMP5_ENST00000545456.1_5'UTR|SCAMP5_ENST00000562212.1_Silent_p.P10P	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	10					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACTTCCCACCATTGCCCAAAT	0.517													A|||	1625	0.324481	0.4357	0.1499	5008	,	,		19471	0.4077		0.0865	False		,,,				2504	0.4571				p.P10P		Atlas-SNP	.											.	SCAMP5	34	.	0			c.A30G						PASS	.	A	,,	1498,2626		279,940,843	97	103	101		30,30,30	-10.7	0	15	dbSNP_116	101	607,7809		26,555,3627	no	coding-synonymous,coding-synonymous,coding-synonymous	SCAMP5	NM_001178111.1,NM_001178112.1,NM_138967.3	,,	305,1495,4470	GG,GA,AA		7.2125,36.324,16.7863	,,	10/236,10/236,10/236	75305040	2105,10435	2062	4208	6270	SO:0001819	synonymous_variant	192683	exon4			CCCACCATTGCCC	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.30A>G	15.37:g.75305040A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001178111	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	CCDS45306.1																																																																																			A|0.735;G|0.265	0.265	strong		0.517	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		G	75305040	A	G	75305040	2	3	22	1	0	0	0	0	0	0	0	1	13874	204	8	2		2	SCAMP5	15	75305040	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	189031	75305040	27226352	7832	12940										
SCAMP5	192683	hgsc.bcm.edu	37	chr15	75305058	75305058	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattgcccaaattcatcccGctgaagccatgtttctacca	5	15	2	1	rs60910940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75305058G>T	ENST00000361900.6	+	4	255	c.48G>T	c.(46-48)ccG>ccT	p.P16P	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Silent_p.P16P|SCAMP5_ENST00000545456.1_5'UTR|SCAMP5_ENST00000562212.1_Silent_p.P16P	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	16					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AATTCATCCCGCTGAAGCCAT	0.507													G|||	168	0.0335463	0.1241	0.0043	5008	,	,		19935	0.0		0.001	False		,,,				2504	0.0				p.P16P		Atlas-SNP	.											.	SCAMP5	34	.	0			c.G48T						PASS	.	G	,,	388,3722		14,360,1681	97	102	101		48,48,48	-10.7	0.4	15	dbSNP_129	101	3,8399		0,3,4198	no	coding-synonymous,coding-synonymous,coding-synonymous	SCAMP5	NM_001178111.1,NM_001178112.1,NM_138967.3	,,	14,363,5879	TT,TG,GG		0.0357,9.4404,3.125	,,	16/236,16/236,16/236	75305058	391,12121	2055	4201	6256	SO:0001819	synonymous_variant	192683	exon4			CATCCCGCTGAAG	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.48G>T	15.37:g.75305058G>T		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	167	167	1	NM_001178111	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	CCDS45306.1																																																																																			G|0.966;T|0.034	0.034	strong		0.507	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		T	75305058	G	T	75305058	2	4	22	1	0	0	0	0	0	0	0	1	13874	1074	38	4		4	SCAMP5	15	75305058	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	75305058	27226334	7833	12941										
C15orf39	56905	hgsc.bcm.edu	37	chr15	75499995	75499995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccacagctgagcctgacTcagccccagccaccagtgaa	9	17	1	3	rs28509789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75499995T>G	ENST00000360639.2	+	2	1926	c.1606T>G	c.(1606-1608)Tca>Gca	p.S536A	C15orf39_ENST00000567617.1_Missense_Mutation_p.S536A|C15orf39_ENST00000394987.4_Missense_Mutation_p.S536A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	536			S -> A (in dbSNP:rs28509789). {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGCCTGACTCAGCCCCAGC	0.617													T|||	1965	0.392372	0.4697	0.4078	5008	,	,		18530	0.3264		0.2773	False		,,,				2504	0.4632				p.S536A		Atlas-SNP	.											C15orf39,bladder,carcinoma,-1,1	C15orf39	64	1	0			c.T1606G						PASS	.	T	ALA/SER	1955,2437		448,1059,689	25	26	26		1606	-3.5	0	15	dbSNP_125	26	2337,6247		327,1683,2282	yes	missense	C15orf39	NM_015492.4	99	775,2742,2971	GG,GT,TT		27.2251,44.5128,33.0764	benign	536/1048	75499995	4292,8684	2196	4292	6488	SO:0001583	missense	56905	exon2			CCTGACTCAGCCC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1606T>G	15.37:g.75499995T>G	ENSP00000353854:p.Ser536Ala	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	128	64	0.5	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	749	0.34294871794871795	224	0.45528455284552843	141	0.38950276243093923	189	0.3304195804195804	195	0.25725593667546176	T	3.832	-0.035507	0.07497	0.445128	0.272251	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.80393	-1.37;-1.37	4.84	-3.54	0.04653	.	1.653880	0.03470	N	0.213444	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.08381	T	0.77	.	0.2702	0.00230	0.2813:0.1842:0.2851:0.2495	rs28509789	536	Q6ZRI6	CO039_HUMAN	A	536	ENSP00000353854:S536A;ENSP00000378438:S536A	ENSP00000353854:S536A	S	+	1	0	C15orf39	73287048	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.873000	0.04214	-0.640000	0.05495	0.460000	0.39030	TCA	T|0.662;G|0.338	0.338	strong		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		G	75499995	T	G	75499995	3	3	22	1	0	0	0	0	1	0	0	0	1793	1551	54	5	1608	5	C15orf39	15	75499995	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	194937	75499995	27031397	7834	12942										
IMP3	55272	hgsc.bcm.edu	37	chr15	75932129	75932129	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgctccacaaaggccacGgcagcctgaaggtgctgcgc	12	15	0	1	rs13737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:75932129G>T	ENST00000314852.2	-	2	1324	c.381C>A	c.(379-381)gcC>gcA	p.A127A	CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Silent_p.A127A|IMP3_ENST00000565349.1_5'Flank			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	118	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CAAAGGCCACGGCAGCCTGAA	0.667													G|||	1973	0.39397	0.5151	0.3876	5008	,	,		19460	0.369		0.2704	False		,,,				2504	0.3875				p.A127A		Atlas-SNP	.											IMP3,colon,carcinoma,0,1	IMP3	10	1	0			c.C381A						PASS	.	G		2100,2294	560.2+/-380.4	504,1092,601	52	46	48		381	-6.3	0.8	15	dbSNP_52	48	2285,6303	373.1+/-336.9	301,1683,2310	no	coding-synonymous	IMP3	NM_018285.3		805,2775,2911	TT,TG,GG		26.6069,47.7924,33.7775		127/185	75932129	4385,8597	2197	4294	6491	SO:0001819	synonymous_variant	55272	exon1			GGCCACGGCAGCC	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"mitochondrial ribosomal protein S4", "chromosome 15 open reading frame 12", "IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.381C>A	15.37:g.75932129G>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	73	0.986486	NM_018285	B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000314852.2	37	CCDS10282.1																																																																																			G|0.628;T|0.372	0.372	strong		0.667	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		T	75932129	G	T	75932129	2	4	22	1	0	0	0	0	0	0	0	1	7719	1103	39	4		4	IMP3	15	75932129	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	432134	75932129	26599263	7835	12943										
FBXO22	26263	hgsc.bcm.edu	37	chr15	76205550	76205550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttttctttgcagaatgttCgcatcttaccacatacagtt	5	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:76205550C>T	ENST00000308275.3	+	3	391	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FBXO22_ENST00000453211.2_Missense_Mutation_p.R96C|FBXO22_ENST00000540507.1_5'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	96					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAGAATGTTCGCATCTTACC	0.383																																					p.R96C		Atlas-SNP	.											FBXO22_ENST00000453211,NS,carcinoma,0,3	FBXO22	60	3	0			c.C286T						PASS	.						65	69	68					15																	76205550		2197	4294	6491	SO:0001583	missense	26263	exon3			AATGTTCGCATCT	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.286C>T	15.37:g.76205550C>T	ENSP00000307833:p.Arg96Cys	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	20	11	0.55	NM_012170	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729883	0.48833	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	.	.	.	5.95	5.95	0.96441	.	0.409490	0.29676	N	0.011486	T	0.39937	0.1097	N	0.08118	0	0.80722	D	1	P;D	0.57571	0.916;0.98	B;P	0.46049	0.23;0.502	T	0.37663	-0.9696	9	0.39692	T	0.17	-3.1292	17.1124	0.86679	0.0:1.0:0.0:0.0	.	96;96	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	C	96	.	ENSP00000307833:R96C	R	+	1	0	FBXO22	73992605	0.995000	0.38212	0.523000	0.27875	0.842000	0.47809	2.942000	0.49018	2.824000	0.97209	0.655000	0.94253	CGC	.	.	none		0.383	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		T	76205550	C	T	76205550	3	4	22	1	0	0	0	0	1	0	0	0	5734	884	31	1	296	1	FBXO22	15	76205550	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	273421	76205550	26325842	7836	12944										
SGK269	79834	hgsc.bcm.edu	37	chr15	77407516	77407516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catccttttcagggtcatctGgatcctcccagggaagcaga	10	12	3	1	rs56079860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:77407516G>T	ENST00000560626.2	-	7	4698	c.4223C>A	c.(4222-4224)cCa>cAa	p.P1408Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1408Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> Q (in dbSNP:rs56079860). {ECO:0000269|PubMed:17344846}.		cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGGGTCATCTGGATCCTCCCA	0.507													G|||	139	0.0277556	0.0802	0.0043	5008	,	,		21618	0.0238		0.002	False		,,,				2504	0.0041				p.P1408Q		Atlas-SNP	.											.	.	.	.	0			c.C4223A						PASS	.	G	GLN/PRO	259,3599		9,241,1679	106	99	101		4223	4.4	0.9	15	dbSNP_129	101	7,8289		0,7,4141	yes	missense	PEAK1	NM_024776.3	76	9,248,5820	TT,TG,GG		0.0844,6.7133,2.1886	probably-damaging	1408/1747	77407516	266,11888	1929	4148	6077	SO:0001583	missense	0	exon8			TCATCTGGATCCT		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4223C>A	15.37:g.77407516G>T	ENSP00000452796:p.Pro1408Gln	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	171	76	0.444444	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	54	0.024725274725274724	31	0.06300813008130081	1	0.0027624309392265192	21	0.03671328671328671	1	0.0013192612137203166	G	7.667	0.686201	0.14973	0.067133	8.44E-4	ENSG00000173517	ENST00000312493	T	0.69435	-0.4	5.29	4.36	0.52297	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.768243	0.11101	U	0.599654	T	0.06917	0.0176	N	0.22421	0.69	0.33285	D	0.562754	P	0.41265	0.744	B	0.36666	0.23	T	0.47045	-0.9147	10	0.62326	D	0.03	-8.3706	9.7816	0.40651	0.0743:0.0:0.7851:0.1406	rs56079860	1408	Q9H792	PEAK1_HUMAN	Q	1408	ENSP00000309230:P1408Q	ENSP00000309230:P1408Q	P	-	2	0	AC087465.1	75194571	1.000000	0.71417	0.947000	0.38551	0.054000	0.15201	3.778000	0.55371	2.492000	0.84095	0.561000	0.74099	CCA	G|0.984;T|0.016	0.016	strong		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77407516	G	T	77407516	3	4	22	1	0	0	0	0	1	0	0	0	14211	1348	47	4	1021	4	SGK269	15	77407516	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1201966	77407516	25123876	7837	12945										
IDH3A	3419	hgsc.bcm.edu	37	chr15	78458638	78458638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttgctacaattaaggaCggaaaggtaacaggaatctt	10	5	1	0	rs2304826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78458638C>T	ENST00000299518.2	+	10	1094	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	IDH3A_ENST00000561366.1_3'UTR|IDH3A_ENST00000558554.1_Silent_p.D302D|IDH3A_ENST00000441490.2_Silent_p.D228D|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Silent_p.D58D	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	337					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CAATTAAGGACGGAAAGGTAA	0.458													C|||	297	0.0593051	0.1286	0.0159	5008	,	,		22649	0.0685		0.0189	False		,,,				2504	0.0286				p.D337D		Atlas-SNP	.											.	IDH3A	24	.	0			c.C1011T						PASS	.	C		436,3956	211.2+/-231.4	20,396,1780	189	180	183		1011	-7.8	0.6	15	dbSNP_100	183	130,8456	67.3+/-129.8	1,128,4164	no	coding-synonymous	IDH3A	NM_005530.2		21,524,5944	TT,TC,CC		1.5141,9.9271,4.3612		337/367	78458638	566,12412	2196	4293	6489	SO:0001819	synonymous_variant	3419	exon10			TAAGGACGGAAAG		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.1011C>T	15.37:g.78458638C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	143	79	0.552448	NM_005530	D3DW83|Q9H3X0	Silent	SNP	ENST00000299518.2	37	CCDS10297.1																																																																																			C|0.950;T|0.050	0.050	strong		0.458	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		T	78458638	C	T	78458638	2	4	22	1	0	0	0	0	0	0	0	1	7496	535	19	1		1	IDH3A	15	78458638	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1051122	78458638	24072754	7838	12946										
ACSBG1	23205	hgsc.bcm.edu	37	chr15	78466006	78466006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgtggtagggccgggccGccgcgttcatgttgaccctc	16	12	1	1	rs11072735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78466006G>A	ENST00000258873.4	-	13	2223	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	ACSBG1_ENST00000560817.1_Missense_Mutation_p.A431V|ACSBG1_ENST00000541759.1_Missense_Mutation_p.A431V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	673			A -> V (in dbSNP:rs11072735). {ECO:0000269|PubMed:14702039}.		long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGGCCGGGCCGCCGCGTTCAT	0.567													G|||	306	0.0611022	0.1354	0.0159	5008	,	,		18635	0.0685		0.0189	False		,,,				2504	0.0286				p.A673V		Atlas-SNP	.											ACSBG1,mouth,carcinoma,+1,1	ACSBG1	79	1	0			c.C2018T						scavenged	.	G	VAL/ALA,VAL/ALA	471,3921	223.3+/-239.8	25,421,1750	91	75	80		2006,2018	4.4	0	15	dbSNP_120	80	129,8457	67.0+/-129.4	1,127,4165	yes	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	64,64	26,548,5915	AA,AG,GG		1.5024,10.724,4.6232	benign,benign	669/721,673/725	78466006	600,12378	2196	4293	6489	SO:0001583	missense	23205	exon13			CGGGCCGCCGCGT	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2018C>T	15.37:g.78466006G>A	ENSP00000258873:p.Ala673Val	Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	108	44	0.407407	NM_015162	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	119	0.05448717948717949	58	0.11788617886178862	9	0.024861878453038673	38	0.06643356643356643	14	0.018469656992084433	G	4.942	0.174970	0.09391	0.10724	0.015024	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.03831	3.79;3.79	5.35	4.43	0.53597	.	0.224065	0.37437	N	0.002091	T	0.00039	0.0001	N	0.01482	-0.84	0.09310	N	1	B;B	0.19706	0.038;0.011	B;B	0.12156	0.007;0.005	T	0.48210	-0.9055	10	0.02654	T	1	-9.3878	9.6131	0.39674	0.1571:0.0:0.8429:0.0	rs11072735;rs11072735	669;673	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	673;431	ENSP00000258873:A673V;ENSP00000439955:A431V	ENSP00000258873:A673V	A	-	2	0	ACSBG1	76253061	0.997000	0.39634	0.019000	0.16419	0.090000	0.18270	5.564000	0.67359	1.491000	0.48482	0.591000	0.81541	GCG	G|0.954;A|0.046	0.046	strong		0.567	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		A	78466006	G	A	78466006	3	1	22	1	0	0	0	0	1	0	0	0	173	1087	38	1	164	1	ACSBG1	15	78466006	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7368	78466006	24065386	7839	12947										
DNAJA4	55466	hgsc.bcm.edu	37	chr15	78567853	78567853	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcataggtatgaaagatggGcaaaagatactatttcatgg	10	4	2	3	rs967821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78567853G>T	ENST00000394852.3	+	5	850	c.660G>T	c.(658-660)ggG>ggT	p.G220G	DNAJA4_ENST00000446172.2_Silent_p.G193G|DNAJA4_ENST00000343789.3_Silent_p.G220G|DNAJA4_ENST00000394855.3_Silent_p.G249G	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	220					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TGAAAGATGGGCAAAAGATAC	0.408													G|||	1024	0.204473	0.292	0.3429	5008	,	,		22376	0.1052		0.1909	False		,,,				2504	0.1043				p.G249G		Atlas-SNP	.											.	DNAJA4	63	.	0			c.G747T						PASS	.	G	,,	1123,3269	401.0+/-331.8	135,853,1208	93	84	87		660,579,747	2.3	1	15	dbSNP_86	87	1503,7083	285.7+/-297.3	147,1209,2937	no	coding-synonymous,coding-synonymous,coding-synonymous	DNAJA4	NM_001130182.1,NM_001130183.1,NM_018602.3	,,	282,2062,4145	TT,TG,GG		17.5052,25.5692,20.2342	,,	220/398,193/371,249/427	78567853	2626,10352	2196	4293	6489	SO:0001819	synonymous_variant	55466	exon6			AGATGGGCAAAAG	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.660G>T	15.37:g.78567853G>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	117	46	0.393162	NM_018602	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	CCDS45316.1																																																																																			G|0.788;T|0.212	0.212	strong		0.408	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		T	78567853	G	T	78567853	2	4	22	1	0	0	0	0	0	0	0	1	4614	1190	42	4		4	DNAJA4	15	78567853	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101847	78567853	23963539	7840	12948										
PSMA4	5685	hgsc.bcm.edu	37	chr15	78841220	78841220	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcagttgatcaaaaaacaTgaggaagaagaagccaaagc	11	6	1	4	rs8053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78841220T>C	ENST00000044462.7	+	9	870	c.720T>C	c.(718-720)caT>caC	p.H240H	PSMA4_ENST00000413382.2_Silent_p.H169H|PSMA4_ENST00000558341.1_Nonstop_Mutation_p.*126R|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000559082.1_Silent_p.H240H|PSMA4_ENST00000558094.1_3'UTR|PSMA4_ENST00000560217.1_Silent_p.H209H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCAAAAAACATGAGGAAGAAG	0.353													C|||	3768	0.752396	0.8389	0.7781	5008	,	,		18985	0.8522		0.6282	False		,,,				2504	0.6421				p.H240H		Atlas-SNP	.											.	PSMA4	17	.	0			c.T720C						PASS	.	C	,,	3333,1059	387.5+/-326.5	1280,773,143	74	75	75		720,507,720	-7.6	0.5	15	dbSNP_52	75	5001,3585	518.6+/-379.3	1472,2057,764	no	coding-synonymous,coding-synonymous,coding-synonymous	PSMA4	NM_001102667.1,NM_001102668.1,NM_002789.4	,,	2752,2830,907	CC,CT,TT		41.754,24.112,35.7836	,,	240/262,169/191,240/262	78841220	8334,4644	2196	4293	6489	SO:0001819	synonymous_variant	5685	exon9			AAAACATGAGGAA	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.720T>C	15.37:g.78841220T>C		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	129	128	0.992248	NM_001102667	D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	37	CCDS10303.1																																																																																			T|0.307;C|0.693	0.693	strong		0.353	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		C	78841220	T	C	78841220	2	2	22	1	0	0	0	0	0	0	0	1	12669	1461	51	2		2	PSMA4	15	78841220	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	273367	78841220	23690172	7841	12949										
CHRNB4	1143	hgsc.bcm.edu	37	chr15	78921762	78921762	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaacatgaggtacttgccGatgagaggcacatcgaggga	15	7	0	3	rs3743072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78921762G>A	ENST00000261751.3	-	5	996	c.885C>T	c.(883-885)atC>atT	p.I295I	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	295					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGTACTTGCCGATGAGAGGCA	0.567													G|||	275	0.0549121	0.1233	0.0101	5008	,	,		22662	0.0813		0.008	False		,,,				2504	0.0153				p.I295I		Atlas-SNP	.											.	CHRNB4	59	.	0			c.C885T						PASS	.	G		435,3957	210.2+/-230.7	24,387,1785	159	124	136		885	-3.9	0.8	15	dbSNP_107	136	56,8530	35.9+/-90.5	0,56,4237	no	coding-synonymous	CHRNB4	NM_000750.3		24,443,6022	AA,AG,GG		0.6522,9.9044,3.7833		295/499	78921762	491,12487	2196	4293	6489	SO:0001819	synonymous_variant	1143	exon5			CTTGCCGATGAGA	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.885C>T	15.37:g.78921762G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	128	70	0.546875	NM_000750	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																			G|0.962;A|0.038	0.038	strong		0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78921762	G	A	78921762	2	1	22	1	0	0	0	0	0	0	0	1	3393	1048	37	1		1	CHRNB4	15	78921762	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80542	78921762	23609630	7842	12950										
CHRNB4	1143	hgsc.bcm.edu	37	chr15	78922229	78922229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggggcagccacaggacgcTgccgttggaccggactatca	15	12	1	0	rs56218866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:78922229T>C	ENST00000261751.3	-	5	529	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	140			S -> G (in dbSNP:rs56218866). {ECO:0000269|PubMed:11450844}.		action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CACAGGACGCTGCCGTTGGAC	0.577													T|||	173	0.0345447	0.0461	0.0029	5008	,	,		20109	0.0843		0.008	False		,,,				2504	0.0174				p.S140G		Atlas-SNP	.											.	CHRNB4	59	.	0			c.A418G						PASS	.	T	GLY/SER	196,4196	112.5+/-150.6	3,190,2003	40	44	42		418	5	1	15	dbSNP_129	42	55,8529	32.3+/-84.9	0,55,4237	yes	missense	CHRNB4	NM_000750.3	56	3,245,6240	CC,CT,TT		0.6407,4.4627,1.9343	possibly-damaging	140/499	78922229	251,12725	2196	4292	6488	SO:0001583	missense	1143	exon5			GGACGCTGCCGTT	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.418A>G	15.37:g.78922229T>C	ENSP00000261751:p.Ser140Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	73	26	0.356164	NM_000750	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	CCDS10306.1	66	0.03021978021978022	14	0.028455284552845527	2	0.0055248618784530384	41	0.07167832167832168	9	0.011873350923482849	T	11.88	1.772142	0.31411	0.044627	0.006407	ENSG00000117971	ENST00000261751	T	0.80033	-1.33	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	M	0.66506	2.035	0.80722	D	1	P	0.52061	0.95	P	0.56700	0.804	T	0.66905	-0.5805	10	0.33940	T	0.23	.	14.6367	0.68694	0.0:0.0:0.0:1.0	rs56218866;rs61737498	140	P30926	ACHB4_HUMAN	G	140	ENSP00000261751:S140G	ENSP00000261751:S140G	S	-	1	0	CHRNB4	76709284	1.000000	0.71417	0.994000	0.49952	0.117000	0.20001	4.107000	0.57811	1.864000	0.54056	0.533000	0.62120	AGC	T|0.982;C|0.018	0.018	strong		0.577	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			C	78922229	T	C	78922229	3	2	22	1	0	0	0	0	1	0	0	0	3393	1580	55	3	1086	3	CHRNB4	15	78922229	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	467	78922229	23609163	7843	12951										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79058968	79058968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatggctgtgtggtgggggTgtccggtcccctgtccccgc	18	12	0	0	rs112827102	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79058968T>C	ENST00000388820.4	-	19	3495	c.3285A>G	c.(3283-3285)acA>acG	p.T1095T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1095					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGGTGGGGGTGTCCGGTCCC	0.622													t|||	553	0.110423	0.0477	0.0562	5008	,	,		13778	0.2063		0.0855	False		,,,				2504	0.1605				p.T1095T		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.A3285G						PASS	.	C		153,4213		5,143,2035	16	23	21		3285	-7.3	0	15	dbSNP_132	21	545,8023		18,509,3757	no	coding-synonymous	ADAMTS7	NM_014272.3		23,652,5792	CC,CT,TT		6.3609,3.5044,5.3966		1095/1687	79058968	698,12236	2183	4284	6467	SO:0001819	synonymous_variant	11173	exon19			TGGGGGTGTCCGG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3285A>G	15.37:g.79058968T>C		Somatic	212	2	0.00943396		WXS	Illumina HiSeq	Phase_I	70	69	0.985714	NM_014272	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			T|0.935;C|0.065	0.065	strong		0.622	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79058968	T	C	79058968	2	2	22	1	0	0	0	0	0	0	0	1	271	1683	59	2		2	ADAMTS7	15	79058968	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136739	79058968	23472424	7844	12952										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79065509	79065509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaccacagcggtcctccaTagcaccggagtcaatctcga	8	16	2	0	rs146076001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79065509T>C	ENST00000388820.4	-	14	2257	c.2047A>G	c.(2047-2049)Atg>Gtg	p.M683V	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	683	Cys-rich.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGTCCTCCATAGCACCGGAG	0.677													T|||	3	0.000599042	0.0023	0.0	5008	,	,		9782	0.0		0.0	False		,,,				2504	0.0				p.M683V		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.A2047G						PASS	.	T	VAL/MET	3,4287		0,3,2142	15	14	15		2047	-4.2	0.1	15	dbSNP_134	15	0,8154		0,0,4077	no	missense	ADAMTS7	NM_014272.3	21	0,3,6219	CC,CT,TT		0.0,0.0699,0.0241	benign	683/1687	79065509	3,12441	2145	4077	6222	SO:0001583	missense	11173	exon14			CCTCCATAGCACC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2047A>G	15.37:g.79065509T>C	ENSP00000373472:p.Met683Val	Somatic	461	1	0.0021692		WXS	Illumina HiSeq	Phase_I	783	340	0.434227	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.480661	0.01027	6.99E-4	0.0	ENSG00000136378	ENST00000388820	T	0.68025	-0.3	3.75	-4.16	0.03869	.	0.686315	0.12999	N	0.421839	T	0.22282	0.0537	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	10.8048	0.46512	0.0:0.4278:0.0:0.5722	.	683;683	A8MQ00;Q9UKP4	.;ATS7_HUMAN	V	683	ENSP00000373472:M683V	ENSP00000373472:M683V	M	-	1	0	ADAMTS7	76852564	0.000000	0.05858	0.065000	0.19835	0.592000	0.36648	0.103000	0.15292	-0.746000	0.04766	0.386000	0.25728	ATG	T|1.000;C|0.000	0.000	weak		0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79065509	T	C	79065509	3	2	22	1	0	0	0	0	1	0	0	0	271	1406	49	2	3057	2	ADAMTS7	15	79065509	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6541	79065509	23465883	7845	12953										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79068649	79068649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcgggccggaagcccacGggtacgcactccccactgag	13	17	0	1	rs59275951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79068649G>A	ENST00000388820.4	-	11	1797	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	529	Disintegrin.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAAGCCCACGGGTACGCACT	0.637													g|||	387	0.0772764	0.174	0.0187	5008	,	,		17624	0.121		0.005	False		,,,				2504	0.0174				p.P529P		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.C1587T						PASS	.	A		705,3687	745.8+/-411.7	47,611,1538	73	87	82		1587	-9.2	0.2	15	dbSNP_129	82	19,8567	813.9+/-407.0	1,17,4275	no	coding-synonymous	ADAMTS7	NM_014272.3		48,628,5813	AA,AG,GG		0.2213,16.0519,5.5787		529/1687	79068649	724,12254	2196	4293	6489	SO:0001819	synonymous_variant	11173	exon11			GCCCACGGGTACG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1587C>T	15.37:g.79068649G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_014272	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			G|0.940;A|0.060	0.060	strong		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79068649	G	A	79068649	2	1	22	1	0	0	0	0	0	0	0	1	271	1103	39	1		1	ADAMTS7	15	79068649	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3140	79068649	23462743	7846	12954										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79083120	79083120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgttgtctgcatggtgcGtgatctttaggtcctcctgg	15	8	2	1	rs2127898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79083120G>A	ENST00000388820.4	-	6	1130	c.920C>T	c.(919-921)aCg>aTg	p.T307M	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	307	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		T -> M (in dbSNP:rs2127898). {ECO:0000269|PubMed:15489334}.		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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCATGGTGCGTGATCTTTAG	0.562																																					p.T307M		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.C920T						PASS	.	G	MET/THR	1260,3132	429.5+/-342.2	178,904,1114	180	139	153		920	2.8	1	15	dbSNP_96	153	2248,6338	378.4+/-338.9	317,1614,2362	no	missense	ADAMTS7	NM_014272.3	81	495,2518,3476	AA,AG,GG		26.1822,28.6885,27.0304	probably-damaging	307/1687	79083120	3508,9470	2196	4293	6489	SO:0001583	missense	11173	exon6			TGGTGCGTGATCT	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.920C>T	15.37:g.79083120G>A	ENSP00000373472:p.Thr307Met	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	135	35	0.259259	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	547	0.25045787545787546	102	0.2073170731707317	107	0.2955801104972376	163	0.28496503496503495	175	0.23087071240105542	G	16.30	3.084407	0.55861	0.286885	0.261822	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.88277	-2.36	4.86	2.85	0.33270	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.129475	0.49916	D	0.000122	T	0.00039	0.0001	M	0.83483	2.645	0.26834	P	0.9685151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.969;0.976	T	0.00001	-1.2722	9	0.72032	D	0.01	.	7.9579	0.30053	0.092:0.1618:0.7462:0.0	rs2127898;rs17857516	307;307;307	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	M	307	ENSP00000373472:T307M	ENSP00000373472:T307M	T	-	2	0	ADAMTS7	76870175	1.000000	0.71417	0.964000	0.40570	0.877000	0.50540	4.633000	0.61318	1.060000	0.40578	-0.643000	0.03959	ACG	G|0.438;A|0.562	0.562	strong		0.562	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79083120	G	A	79083120	3	1	22	1	0	0	0	0	1	0	0	0	271	1145	40	1	4216	1	ADAMTS7	15	79083120	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14471	79083120	23448272	7847	12955										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79748603	79748603	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatctctctgtgcccggttCgacctgtcgcagcttgccaa	9	14	2	0	rs7183867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79748603C>T	ENST00000305428.3	+	2	189	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	38						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTGCCCGGTTCGACCTGTCGC	0.473													C|||	941	0.187899	0.5287	0.0634	5008	,	,		16769	0.0823		0.0636	False		,,,				2504	0.0521				p.F38F		Atlas-SNP	.											.	KIAA1024	146	.	0			c.C114T						PASS	.	C		1963,2429	555.4+/-379.2	442,1079,675	116	110	112		114	-8.4	0	15	dbSNP_116	112	537,8049	148.8+/-204.0	15,507,3771	no	coding-synonymous	KIAA1024	NM_015206.2		457,1586,4446	TT,TC,CC		6.2544,44.6949,19.2634		38/917	79748603	2500,10478	2196	4293	6489	SO:0001819	synonymous_variant	23251	exon2			CCGGTTCGACCTG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.114C>T	15.37:g.79748603C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	144	142	0.986111	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																			C|0.813;T|0.187	0.187	strong		0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79748603	C	T	79748603	2	4	22	1	0	0	0	0	0	0	0	1	8205	883	31	1		1	KIAA1024	15	79748603	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	665483	79748603	22782789	7848	12956										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79749447	79749447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatccagtgtattccccgGttcctgacaaaaggcgagca	10	11	0	2	rs11634652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79749447G>T	ENST00000305428.3	+	2	1033	c.958G>T	c.(958-960)Gtt>Ttt	p.V320F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	320			V -> F (in dbSNP:rs11634652).			integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTATTCCCCGGTTCCTGACAA	0.522													G|||	670	0.133786	0.3321	0.049	5008	,	,		18437	0.0823		0.0636	False		,,,				2504	0.0511				p.V320F		Atlas-SNP	.											.	KIAA1024	146	.	0			c.G958T						PASS	.	G	PHE/VAL	1225,3167	425.3+/-340.8	180,865,1151	127	135	132		958	-1.6	0	15	dbSNP_120	132	523,8063	146.5+/-202.0	14,495,3784	yes	missense	KIAA1024	NM_015206.2	50	194,1360,4935	TT,TG,GG		6.0913,27.8916,13.4689	benign	320/917	79749447	1748,11230	2196	4293	6489	SO:0001583	missense	23251	exon2			TCCCCGGTTCCTG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.958G>T	15.37:g.79749447G>T	ENSP00000307461:p.Val320Phe	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	285	0.1304945054945055	167	0.3394308943089431	23	0.06353591160220995	46	0.08041958041958042	49	0.06464379947229551	G	10.64	1.407212	0.25378	0.278916	0.060913	ENSG00000169330	ENST00000305428	T	0.32515	1.45	5.01	-1.58	0.08479	.	0.611918	0.15992	N	0.234776	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.29085	0.232	B	0.24701	0.055	T	0.46133	-0.9213	8	.	.	.	.	6.2025	0.20583	0.4768:0.1324:0.3908:0.0	rs11634652;rs52819290;rs56800743;rs11634652	320	Q9UPX6	K1024_HUMAN	F	320	ENSP00000307461:V320F	.	V	+	1	0	KIAA1024	77536502	0.000000	0.05858	0.000000	0.03702	0.935000	0.57460	0.248000	0.18198	-0.097000	0.12307	0.591000	0.81541	GTT	G|0.866;T|0.134	0.134	strong		0.522	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79749447	G	T	79749447	3	4	22	1	0	0	0	0	1	0	0	0	8205	1261	44	4	960	4	KIAA1024	15	79749447	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	844	79749447	22781945	7849	12957										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79755604	79755604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggccaaccttcttggaccAttgaggagtatgcacggaat	13	9	1	1	rs2297773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:79755604A>G	ENST00000305428.3	+	3	2569	c.2494A>G	c.(2494-2496)Att>Gtt	p.I832V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	832			I -> V (in dbSNP:rs2297773).			integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTCTTGGACCATTGAGGAGTA	0.627													A|||	1277	0.254992	0.4962	0.1282	5008	,	,		19903	0.1478		0.2107	False		,,,				2504	0.1748				p.I832V		Atlas-SNP	.											.	KIAA1024	146	.	0			c.A2494G						PASS	.	A	VAL/ILE	1877,2515	541.1+/-375.7	410,1057,729	107	96	100		2494	-10.6	0	15	dbSNP_100	100	1699,6887	311.7+/-310.5	164,1371,2758	yes	missense	KIAA1024	NM_015206.2	29	574,2428,3487	GG,GA,AA		19.788,42.7368,27.5543	benign	832/917	79755604	3576,9402	2196	4293	6489	SO:0001583	missense	23251	exon3			TGGACCATTGAGG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2494A>G	15.37:g.79755604A>G	ENSP00000307461:p.Ile832Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	546	0.25	238	0.483739837398374	63	0.17403314917127072	82	0.14335664335664336	163	0.21503957783641162	A	7.689	0.690574	0.15039	0.427368	0.19788	ENSG00000169330	ENST00000305428	T	0.40225	1.04	5.32	-10.6	0.00265	.	0.655502	0.15131	N	0.278850	T	0.00012	0.0000	L	0.28344	0.845	0.39727	P	0.028442999999999996	B	0.02656	0.0	B	0.06405	0.002	T	0.31420	-0.9944	8	.	.	.	.	9.3297	0.38014	0.2438:0.4982:0.258:0.0	rs2297773;rs60393750;rs2297773	832	Q9UPX6	K1024_HUMAN	V	832	ENSP00000307461:I832V	.	I	+	1	0	KIAA1024	77542659	1.000000	0.71417	0.001000	0.08648	0.849000	0.48306	1.624000	0.37018	-2.170000	0.00776	-0.313000	0.08912	ATT	A|0.733;G|0.267	0.267	strong		0.627	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		G	79755604	A	G	79755604	3	3	22	1	0	0	0	0	1	0	0	0	8205	217	8	2	2500	2	KIAA1024	15	79755604	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6157	79755604	22775788	7850	12958										
BCL2A1	597	hgsc.bcm.edu	37	chr15	80260014	80260014	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgactctaccagcataggTgtgtgattgtgccatttccc	9	11	1	2	rs8026803	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80260014T>C	ENST00000267953.3	-	1	747				BCL2A1_ENST00000335661.6_Silent_p.T147T	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCAGCATAGGTGTGTGATTGT	0.358													C|||	1950	0.389377	0.3956	0.2925	5008	,	,		18762	0.5288		0.2584	False		,,,				2504	0.4407				p.T147T		Atlas-SNP	.											.	BCL2A1	28	.	0			c.A441G						PASS	.	C	,	1147,1989		199,749,620	101	84	89		441,	0	0	15	dbSNP_116	89	1841,5323		211,1419,1952	no	coding-synonymous,intron	BCL2A1	NM_001114735.1,NM_004049.3	,	410,2168,2572	CC,CT,TT		25.6979,36.5753,29.0097	,	147/164,	80260014	2988,7312	1568	3582	5150	SO:0001627	intron_variant	597	exon2			CATAGGTGTGTGA		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.420+3027A>G	15.37:g.80260014T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_001114735	Q6FGZ4|Q6FH19|Q86W13|Q99524	Silent	SNP	ENST00000267953.3	37	CCDS10312.1																																																																																			T|0.622;C|0.378	0.378	strong		0.358	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		C	80260014	T	C	80260014	1	2	22	0	1	0	0	0	0	0	0	0	1366	1683	59	2		2	BCL2A1	15	80260014	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	504410	80260014	22271378	7851	12959										
BCL2A1	597	hgsc.bcm.edu	37	chr15	80263111	80263111	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgcaacaaaatatgaaatCtccttataggtatccacatc	4	11	1	1	rs34080999	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80263111C>A	ENST00000267953.3	-	1	677	c.351G>T	c.(349-351)gaG>gaT	p.E117D	BCL2A1_ENST00000335661.6_Missense_Mutation_p.E117D	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	117			E -> D (in dbSNP:rs34080999).		extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATATGAAATCTCCTTATAGG	0.383													C|||	191	0.038139	0.1384	0.0086	5008	,	,		17180	0.0		0.002	False		,,,				2504	0.0				p.E117D		Atlas-SNP	.											.	BCL2A1	28	.	0			c.G351T						PASS	.	C	ASP/GLU,ASP/GLU	472,3934	219.1+/-236.9	26,420,1757	118	125	123		351,351	-5	0	15	dbSNP_126	123	7,8593	6.4+/-24.3	0,7,4293	yes	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	45,45	26,427,6050	AA,AC,CC		0.0814,10.7127,3.6829	benign,benign	117/164,117/176	80263111	479,12527	2203	4300	6503	SO:0001583	missense	597	exon1			TGAAATCTCCTTA		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.351G>T	15.37:g.80263111C>A	ENSP00000267953:p.Glu117Asp	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	224	105	0.46875	NM_001114735	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	55	0.025183150183150184	50	0.1016260162601626	5	0.013812154696132596	0	0.0	0	0.0	C	11.44	1.639200	0.29157	0.107127	8.14E-4	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.11604	2.76;2.76	4.98	-5.04	0.02964	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	1.167600	0.06235	N	0.689282	T	0.00144	0.0004	N	0.21448	0.665	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44742	-0.9308	10	0.15499	T	0.54	-25.672	8.3287	0.32173	0.0:0.3478:0.4258:0.2264	rs34080999	117;117	Q86W13;Q16548	.;B2LA1_HUMAN	D	117	ENSP00000267953:E117D;ENSP00000335250:E117D	ENSP00000267953:E117D	E	-	3	2	BCL2A1	78050166	0.457000	0.25752	0.000000	0.03702	0.018000	0.09664	-0.218000	0.09240	-0.861000	0.04094	0.655000	0.94253	GAG	C|0.968;A|0.032	0.032	strong		0.383	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		A	80263111	C	A	80263111	3	1	22	1	0	0	0	0	1	0	0	0	1366	912	32	4	244	4	BCL2A1	15	80263111	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3097	80263111	22268281	7852	12960										
BCL2A1	597	hgsc.bcm.edu	37	chr15	80263345	80263345	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttggactgagaacgcaacAttttgtagcactctggacgt	10	8	1	1	rs1138358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80263345A>C	ENST00000267953.3	-	1	443	c.117T>G	c.(115-117)aaT>aaG	p.N39K	BCL2A1_ENST00000335661.6_Missense_Mutation_p.N39K	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	39			N -> K (in dbSNP:rs1138358). {ECO:0000269|Ref.6}.		extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGAACGCAACATTTTGTAGCA	0.443													a|||	2298	0.458866	0.6377	0.3127	5008	,	,		21936	0.5367		0.2624	False		,,,				2504	0.4427				p.N39K		Atlas-SNP	.											.	BCL2A1	28	.	0			c.T117G						PASS	.	A	LYS/ASN,LYS/ASN	2472,1934	623.5+/-394.1	688,1096,419	139	127	131		117,117	-10.2	0	15	dbSNP_86	131	2248,6352	381.2+/-339.9	276,1696,2328	yes	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	94,94	964,2792,2747	CC,CA,AA		26.1395,43.8947,36.2909	benign,benign	39/164,39/176	80263345	4720,8286	2203	4300	6503	SO:0001583	missense	597	exon1			CGCAACATTTTGT		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.117T>G	15.37:g.80263345A>C	ENSP00000267953:p.Asn39Lys	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	210	87	0.414286	NM_001114735	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	950	0.434981684981685	308	0.6260162601626016	135	0.3729281767955801	312	0.5454545454545454	195	0.25725593667546176	a	4.156	0.027388	0.08054	0.561053	0.261395	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.15834	2.39;2.39	5.63	-10.2	0.00374	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.950099	0.08840	N	0.885950	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B	0.21147	0.052;0.001	B;B	0.16722	0.016;0.004	T	0.46331	-0.9199	9	0.08179	T	0.78	-1.1102	1.5289	0.02531	0.3591:0.2423:0.2488:0.1498	rs1138358;rs2070263;rs3202147;rs3743426;rs52805955;rs57940215;rs1138358	39;39	Q86W13;Q16548	.;B2LA1_HUMAN	K	39	ENSP00000267953:N39K;ENSP00000335250:N39K	ENSP00000267953:N39K	N	-	3	2	BCL2A1	78050400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.817000	0.00359	-1.753000	0.01323	-1.967000	0.00467	AAT	A|0.600;C|0.400	0.400	strong		0.443	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		C	80263345	A	C	80263345	3	2	22	1	0	0	0	0	1	0	0	0	1366	214	8	5	478	5	BCL2A1	15	80263345	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	234	80263345	22268047	7853	12961										
BCL2A1	597	hgsc.bcm.edu	37	chr15	80263406	80263406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgtggtatctgtaggacgCactgcagatagtcctgagcc	13	9	1	2	rs1138357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80263406C>T	ENST00000267953.3	-	1	382	c.56G>A	c.(55-57)tGc>tAc	p.C19Y	BCL2A1_ENST00000335661.6_Missense_Mutation_p.C19Y	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	19			C -> Y (in dbSNP:rs1138357). {ECO:0000269|Ref.6}.		extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTGTAGGACGCACTGCAGATA	0.463													T|||	1763	0.352037	0.2572	0.2767	5008	,	,		20116	0.5367		0.2565	False		,,,				2504	0.4417				p.C19Y		Atlas-SNP	.											.	BCL2A1	28	.	0			c.G56A						PASS	.	T	TYR/CYS,TYR/CYS	1063,3343	723.6+/-409.4	115,833,1255	93	85	88		56,56	1.9	0	15	dbSNP_86	88	2210,6390	710.7+/-405.8	263,1684,2353	yes	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	194,194	378,2517,3608	TT,TC,CC		25.6977,24.1262,25.1653	benign,benign	19/164,19/176	80263406	3273,9733	2203	4300	6503	SO:0001583	missense	597	exon1			AGGACGCACTGCA		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.56G>A	15.37:g.80263406C>T	ENSP00000267953:p.Cys19Tyr	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	171	75	0.438596	NM_001114735	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	733	0.3356227106227106	114	0.23170731707317074	117	0.32320441988950277	311	0.5437062937062938	191	0.2519788918205805	T	0.042	-1.282248	0.01398	0.241262	0.256977	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.16597	2.33;2.33	5.63	1.93	0.25924	.	1.078550	0.07069	N	0.835026	T	0.00012	0.0000	N	0.00308	-1.67	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46456	-0.9190	9	0.02654	T	1	-10.7493	4.1144	0.10074	0.2557:0.1385:0.0:0.6058	rs1138357;rs2070264;rs3202145;rs3743425;rs16971625;rs52797061;rs61411122;rs1138357	19;19	Q86W13;Q16548	.;B2LA1_HUMAN	Y	19	ENSP00000267953:C19Y;ENSP00000335250:C19Y	ENSP00000267953:C19Y	C	-	2	0	BCL2A1	78050461	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.334000	0.33827	-0.156000	0.11079	-1.170000	0.01741	TGC	C|0.708;T|0.292	0.292	strong		0.463	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		T	80263406	C	T	80263406	3	4	22	1	0	0	0	0	1	0	0	0	1366	710	25	2	539	2	BCL2A1	15	80263406	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61	80263406	22267986	7854	12962										
FAH	2184	hgsc.bcm.edu	37	chr15	80460421	80460421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaccagtgggctaccatggCcgtgcctcctctgtcgtggt	12	13	1	0	rs116272698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80460421C>T	ENST00000407106.1	+	7	638	c.483C>T	c.(481-483)ggC>ggT	p.G161G	FAH_ENST00000539156.1_Silent_p.G91G|RP11-2E17.2_ENST00000568836.1_lincRNA|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.G161G|FAH_ENST00000261755.5_Silent_p.G161G			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	161					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACCATGGCCGTGCCTCCT	0.522									Tyrosinemia, type 1				C|||	45	0.00898562	0.0318	0.0043	5008	,	,		19054	0.0		0.0	False		,,,				2504	0.0				p.G161G		Atlas-SNP	.											.	FAH	36	.	0			c.C483T						PASS	.	C		124,4282	91.1+/-129.8	0,124,2079	116	93	101		483	-0.1	1	15	dbSNP_132	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAH	NM_000137.2		0,125,6378	TT,TC,CC		0.0116,2.8143,0.9611		161/420	80460421	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	2184	exon6	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	CCATGGCCGTGCC	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.483C>T	15.37:g.80460421C>T		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	220	105	0.477273	NM_000137	B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	CCDS10314.1																																																																																			C|0.990;T|0.010	0.010	strong		0.522	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			T	80460421	C	T	80460421	2	4	22	1	0	0	0	0	0	0	0	1	5371	726	26	2		2	FAH	15	80460421	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	197015	80460421	22070971	7855	12963										
ARNT2	9915	hgsc.bcm.edu	37	chr15	80843578	80843578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacgctgatgtgggacaaGgcagtaaatattgcctcgtg	13	7	0	2	rs150765047	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80843578G>A	ENST00000303329.4	+	9	1081	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	ARNT2_ENST00000533983.1_Missense_Mutation_p.G295S|ARNT2_ENST00000527771.1_Missense_Mutation_p.G295S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	306					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGTGGGACAAGGCAGTAAATA	0.413													G|||	10	0.00199681	0.0076	0.0	5008	,	,		22886	0.0		0.0	False		,,,				2504	0.0				p.G306S		Atlas-SNP	.											.	ARNT2	88	.	0			c.G916A						PASS	.	G	SER/GLY	23,4383	29.9+/-59.1	0,23,2180	128	117	121		916	4	1	15	dbSNP_134	121	0,8600		0,0,4300	yes	missense	ARNT2	NM_014862.3	56	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	benign	306/718	80843578	23,12983	2203	4300	6503	SO:0001583	missense	9915	exon9			GGACAAGGCAGTA	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.916G>A	15.37:g.80843578G>A	ENSP00000307479:p.Gly306Ser	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	38	23	0.605263	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.74	2.923805	0.52653	0.00522	0.0	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06142	3.34	4.9	3.98	0.46160	.	0.412872	0.25801	N	0.028211	T	0.03095	0.0091	N	0.16656	0.425	0.54753	D	0.999984	B	0.15719	0.014	B	0.17722	0.019	T	0.43163	-0.9408	10	0.18276	T	0.48	.	13.4258	0.61024	0.0763:0.0:0.9237:0.0	.	306	Q9HBZ2	ARNT2_HUMAN	S	295;306;306	ENSP00000307479:G306S	ENSP00000307479:G306S	G	+	1	0	ARNT2	78630633	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.471000	0.60182	1.060000	0.40578	0.655000	0.94253	GGC	G|0.999;A|0.001	0.001	strong		0.413	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80843578	G	A	80843578	3	1	22	1	0	0	0	0	1	0	0	0	966	1000	35	2	950	2	ARNT2	15	80843578	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	383157	80843578	21687814	7856	12964										
ARNT2	9915	hgsc.bcm.edu	37	chr15	80873642	80873642	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggattggaacgagccacacCtacccggcagacccctcttc	10	16	1	1	rs79914316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:80873642C>G	ENST00000303329.4	+	17	1980	c.1815C>G	c.(1813-1815)acC>acG	p.T605T	ARNT2_ENST00000527771.1_Silent_p.T594T|RP11-379K22.3_ENST00000603875.1_RNA|hsa-mir-5572_ENST00000583188.1_RNA|ARNT2_ENST00000533983.1_Silent_p.T594T	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	605					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T605>?(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CGAGCCACACCTACCCGGCAG	0.552													C|||	445	0.0888578	0.1415	0.0231	5008	,	,		19919	0.1131		0.0209	False		,,,				2504	0.1094				p.T605T		Atlas-SNP	.											.	ARNT2	88	.	1	Complex(1)	NS(1)	c.C1815G						PASS	.	C		531,3875	241.5+/-251.9	32,467,1704	99	85	90		1815	-0.6	0.8	15	dbSNP_131	90	32,8568	22.2+/-67.0	0,32,4268	no	coding-synonymous	ARNT2	NM_014862.3		32,499,5972	GG,GC,CC		0.3721,12.0517,4.3288		605/718	80873642	563,12443	2203	4300	6503	SO:0001819	synonymous_variant	9915	exon17			CCACACCTACCCG	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1815C>G	15.37:g.80873642C>G		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	194	97	0.5	NM_014862	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																			C|0.947;G|0.053	0.053	strong		0.552	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			G	80873642	C	G	80873642	2	3	22	1	0	0	0	0	0	0	0	1	966	668	24	4		4	ARNT2	15	80873642	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30064	80873642	21657750	7857	12965										
KIAA1199	57214	hgsc.bcm.edu	37	chr15	81172064	81172064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctacctcttcaggcaagctGgtcattaaagaccacgacga	9	12	3	1	rs35541581	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81172064G>A	ENST00000394685.3	+	5	668	c.249G>A	c.(247-249)ctG>ctA	p.L83L	KIAA1199_ENST00000220244.3_Silent_p.L83L|KIAA1199_ENST00000356249.5_Silent_p.L83L			Q8WUJ3	CEMIP_HUMAN		83	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGGCAAGCTGGTCATTAAAG	0.527													A|||	357	0.0712859	0.2481	0.0389	5008	,	,		19880	0.0		0.002	False		,,,				2504	0.0				p.L83L		Atlas-SNP	.											.	KIAA1199	118	.	0			c.G249A						PASS	.	A		941,3465	736.2+/-410.7	102,737,1364	78	70	73		249	-12.1	0	15	dbSNP_126	73	29,8571	817.9+/-406.9	0,29,4271	no	coding-synonymous	KIAA1199	NM_018689.1		102,766,5635	AA,AG,GG		0.3372,21.3572,7.4581		83/1362	81172064	970,12036	2203	4300	6503	SO:0001819	synonymous_variant	57214	exon4			CAAGCTGGTCATT																												ENST00000394685.3:c.249G>A	15.37:g.81172064G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	125	62	0.496	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			G|0.928;A|0.072	0.072	strong		0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81172064	G	A	81172064	2	1	22	1	0	0	0	0	0	0	0	1	8213	1335	47	2		2	KIAA1199	15	81172064	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	298422	81172064	21359328	7858	12966										
KIAA1199	57214	hgsc.bcm.edu	37	chr15	81217024	81217024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgccaaggacaagcggccGttcctctcaatcatctctgc	8	15	4	0	rs28566789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81217024G>A	ENST00000394685.3	+	18	2684	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P	KIAA1199_ENST00000356249.5_Silent_p.P755P|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.P755P			Q8WUJ3	CEMIP_HUMAN		755					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACAAGCGGCCGTTCCTCTCAA	0.532													G|||	139	0.0277556	0.0998	0.0086	5008	,	,		19966	0.0		0.001	False		,,,				2504	0.0				p.P755P		Atlas-SNP	.											.	KIAA1199	118	.	0			c.G2265A						PASS	.	G		341,4065	178.3+/-207.1	17,307,1879	123	101	108		2265	-0.2	1	15	dbSNP_125	108	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIAA1199	NM_018689.1		17,309,6177	AA,AG,GG		0.0233,7.7394,2.6372		755/1362	81217024	343,12663	2203	4300	6503	SO:0001819	synonymous_variant	57214	exon17			GCGGCCGTTCCTC																												ENST00000394685.3:c.2265G>A	15.37:g.81217024G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	196	92	0.469388	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			G|0.973;A|0.027	0.027	strong		0.532	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81217024	G	A	81217024	2	1	22	1	0	0	0	0	0	0	0	1	8213	1132	40	1		1	KIAA1199	15	81217024	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44960	81217024	21314368	7859	12967										
IL16	3603	hgsc.bcm.edu	37	chr15	81582868	81582868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggaaaggagaggcatcaGtggagtctggaaggtaagac	16	4	2	2	rs8031107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81582868G>A	ENST00000302987.4	+	10	1407	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	IL16_ENST00000394660.2_Silent_p.Q469Q			Q14005	IL16_HUMAN	interleukin 16	469					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGAGGCATCAGTGGAGTCTGG	0.413													G|||	2932	0.585463	0.7474	0.4222	5008	,	,		18859	0.5407		0.4801	False		,,,				2504	0.637				p.Q469Q		Atlas-SNP	.											IL16_ENST00000302987,right_upper_lobe,carcinoma,+1,2	IL16	254	2	0			c.G1407A						PASS	.	G	,	2604,1200		910,784,208	131	138	136		1407,1407	-0.4	1	15	dbSNP_116	136	3677,4575		821,2035,1270	no	coding-synonymous,coding-synonymous	IL16	NM_001172128.1,NM_172217.3	,	1731,2819,1478	AA,AG,GG		44.5589,31.5457,47.9015	,	469/1332,469/1333	81582868	6281,5775	1902	4126	6028	SO:0001819	synonymous_variant	3603	exon11			GCATCAGTGGAGT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1407G>A	15.37:g.81582868G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	165	162	0.981818	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																			G|0.455;A|0.545	0.545	strong		0.413	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81582868	G	A	81582868	2	1	22	1	0	0	0	0	0	0	0	1	7633	1020	36	2		2	IL16	15	81582868	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	365844	81582868	20948524	7860	12968										
IL16	3603	hgsc.bcm.edu	37	chr15	81589340	81589340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagccctagtgcctctgcCggctgcccaggacctggtat	12	14	1	1	rs201624502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81589340C>T	ENST00000302987.4	+	12	1974	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	IL16_ENST00000394660.2_Silent_p.A658A|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_5'UTR			Q14005	IL16_HUMAN	interleukin 16	658					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGCCTCTGCCGGCTGCCCAG	0.592													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18755	0.0		0.0	False		,,,				2504	0.0				p.A658A		Atlas-SNP	.											.	IL16	254	.	0			c.C1974T						PASS	.	C	,,	8,3906		0,8,1949	34	39	37		1974,,1974	-3.6	0	15		37	0,8326		0,0,4163	no	coding-synonymous,utr-5,coding-synonymous	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	,,	0,8,6112	TT,TC,CC		0.0,0.2044,0.0654	,,	658/1332,,658/1333	81589340	8,12232	1957	4163	6120	SO:0001819	synonymous_variant	3603	exon13			CTCTGCCGGCTGC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1974C>T	15.37:g.81589340C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	173	89	0.514451	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																			C|0.999;T|0.001	0.001	strong		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		T	81589340	C	T	81589340	2	4	22	1	0	0	0	0	0	0	0	1	7633	639	23	1		1	IL16	15	81589340	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6472	81589340	20942052	7861	12969										
IL16	3603	hgsc.bcm.edu	37	chr15	81592384	81592384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgagcaagtactgtcctCggggtcccctgcagcctccg	12	16	0	1	rs17875513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81592384C>T	ENST00000302987.4	+	13	2717	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	IL16_ENST00000394660.2_Missense_Mutation_p.S906L|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.S205L			Q14005	IL16_HUMAN	interleukin 16	906			S -> L (in dbSNP:rs17875513). {ECO:0000269|Ref.8}.		immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTACTGTCCTCGGGGTCCCCT	0.642													C|||	215	0.0429313	0.1536	0.0115	5008	,	,		11772	0.0		0.004	False		,,,				2504	0.0				p.S906L		Atlas-SNP	.											.	IL16	254	.	0			c.C2717T						PASS	.	C	LEU/SER,LEU/SER,LEU/SER	558,3836		38,482,1677	44	49	47		2717,614,2717	-9.7	0	15	dbSNP_124	47	28,8572		0,28,4272	yes	missense,missense,missense	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	145,145,145	38,510,5949	TT,TC,CC		0.3256,12.6991,4.5098	benign,benign,benign	906/1332,205/632,906/1333	81592384	586,12408	2197	4300	6497	SO:0001583	missense	3603	exon14			TGTCCTCGGGGTC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2717C>T	15.37:g.81592384C>T	ENSP00000302935:p.Ser906Leu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	82	0.037545787545787544	76	0.15447154471544716	4	0.011049723756906077	0	0.0	2	0.002638522427440633	C	8.558	0.877168	0.17395	0.126991	0.003256	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.10763	2.84;2.84;3.43	4.85	-9.71	0.00518	.	1.594110	0.03725	N	0.252561	T	0.00039	0.0001	N	0.14661	0.345	0.80722	P	0.0	B;B;B;B;B;B	0.14438	0.001;0.01;0.0;0.001;0.0;0.001	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001;0.001	T	0.30208	-0.9986	9	0.30078	T	0.28	.	8.1212	0.30971	0.0709:0.1747:0.5288:0.2256	rs17875513	738;399;443;296;906;906	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	L	906;738;906;443;296;205;205	ENSP00000378155:S906L;ENSP00000302935:S906L;ENSP00000378147:S205L	ENSP00000302935:S906L	S	+	2	0	IL16	79379439	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.830000	0.00744	-1.944000	0.01038	-1.710000	0.00715	TCG	C|0.955;T|0.045	0.045	strong		0.642	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		T	81592384	C	T	81592384	3	4	22	1	0	0	0	0	1	0	0	0	7633	893	31	1	2767	1	IL16	15	81592384	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3044	81592384	20939008	7862	12970										
TMC3	342125	hgsc.bcm.edu	37	chr15	81625028	81625028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattccgggatcgtggctttCtgggcacataggctggcctc	13	11	1	0	rs8031046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81625028C>T	ENST00000359440.5	-	22	3170	c.3035G>A	c.(3034-3036)aGa>aAa	p.R1012K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R1013K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCGTGGCTTTCTGGGCACATA	0.582													T|||	836	0.166933	0.4728	0.062	5008	,	,		16882	0.0952		0.0517	False		,,,				2504	0.0204				p.R1012K		Atlas-SNP	.											.	TMC3	112	.	0			c.G3035A						PASS	.	T	LYS/ARG	1592,2362		345,902,730	35	40	39		3035	-9	0	15	dbSNP_116	39	440,7886		12,416,3735	yes	missense	TMC3	NM_001080532.1	26	357,1318,4465	TT,TC,CC		5.2847,40.263,16.5472	benign	1012/1101	81625028	2032,10248	1977	4163	6140	SO:0001583	missense	342125	exon22			GGCTTTCTGGGCA	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3035G>A	15.37:g.81625028C>T	ENSP00000352413:p.Arg1012Lys	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	168	93	0.553571	NM_001080532		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	363	0.1662087912087912	240	0.4878048780487805	25	0.06906077348066299	61	0.10664335664335664	37	0.048812664907651716	T	4.161	0.028403	0.08054	0.40263	0.052847	ENSG00000188869	ENST00000359440	T	0.62232	0.04	5.42	-9.03	0.00737	.	0.406919	0.19362	N	0.116103	T	0.00012	0.0000	N	0.01742	-0.745	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	9	0.02654	T	1	-0.4035	21.2883	0.99950	0.0:0.656:0.0:0.344	rs8031046;rs52825478;rs59441739;rs8031046	1012	Q7Z5M5	TMC3_HUMAN	K	1012	ENSP00000352413:R1012K	ENSP00000352413:R1012K	R	-	2	0	TMC3	79412083	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.956000	0.03865	-2.591000	0.00456	-1.213000	0.01624	AGA	C|0.811;T|0.189	0.189	strong		0.582	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81625028	C	T	81625028	3	4	22	1	0	0	0	0	1	0	0	0	15983	913	32	2	271	2	TMC3	15	81625028	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32644	81625028	20906364	7863	12971										
TMC3	342125	hgsc.bcm.edu	37	chr15	81641872	81641872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgaggtcaaaggctgatgGtgctatcatggtgacgaggg	16	5	2	3	rs61740148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:81641872G>T	ENST00000359440.5	-	11	1255	c.1120C>A	c.(1120-1122)Cca>Aca	p.P374T	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.P375T|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AAGGCTGATGGTGCTATCATG	0.577													G|||	58	0.0115815	0.0408	0.0058	5008	,	,		16696	0.0		0.0	False		,,,				2504	0.0				p.P374T		Atlas-SNP	.											.	TMC3	112	.	0			c.C1120A						PASS	.	G	THR/PRO	172,4164		3,166,1999	107	111	110		1120	5	0.6	15	dbSNP_129	110	1,8523		0,1,4261	yes	missense	TMC3	NM_001080532.1	38	3,167,6260	TT,TG,GG		0.0117,3.9668,1.3453	probably-damaging	374/1101	81641872	173,12687	2168	4262	6430	SO:0001583	missense	342125	exon11			CTGATGGTGCTAT	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1120C>A	15.37:g.81641872G>T	ENSP00000352413:p.Pro374Thr	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	211	99	0.469194	NM_001080532		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	20	0.009157509157509158	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	0	0.0	G	16.89	3.247828	0.59103	0.039668	1.17E-4	ENSG00000188869	ENST00000359440	D	0.91237	-2.81	5.02	5.02	0.67125	.	0.129405	0.53938	D	0.000052	D	0.87466	0.6184	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89179	0.3542	10	0.87932	D	0	-13.1745	18.3718	0.90409	0.0:0.0:1.0:0.0	.	374;374	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	374	ENSP00000352413:P374T	ENSP00000352413:P374T	P	-	1	0	TMC3	79428927	1.000000	0.71417	0.619000	0.29118	0.082000	0.17680	9.398000	0.97281	2.322000	0.78497	0.655000	0.94253	CCA	G|0.990;T|0.010	0.010	strong		0.577	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81641872	G	T	81641872	3	4	22	1	0	0	0	0	1	0	0	0	15983	1261	44	4	2230	4	TMC3	15	81641872	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16844	81641872	20889520	7864	12972										
EFTUD1	79631	hgsc.bcm.edu	37	chr15	82443824	82443824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgagaacatcaccagtggCcatgatgtcacatgtgtaca	9	11	2	2	rs78664413	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:82443824C>T	ENST00000268206.7	-	18	3139	c.2971G>A	c.(2971-2973)Gcc>Acc	p.A991T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.A940T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	991					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.A991T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCACCAGTGGCCATGATGTCA	0.448													C|||	286	0.0571086	0.1415	0.0793	5008	,	,		22875	0.005		0.0328	False		,,,				2504	0.0061				p.A991T		Atlas-SNP	.											EFTUD1,NS,carcinoma,0,1	EFTUD1	74	1	1	Substitution - Missense(1)	pancreas(1)	c.G2971A						PASS	.	C	THR/ALA,THR/ALA	479,3505		30,419,1543	118	115	116		2818,2971	6.2	1	15	dbSNP_131	116	299,8045		5,289,3878	yes	missense,missense	EFTUD1	NM_001040610.2,NM_024580.5	58,58	35,708,5421	TT,TC,CC		3.5834,12.0231,6.3108	benign,benign	940/1070,991/1121	82443824	778,11550	1992	4172	6164	SO:0001583	missense	79631	exon18			CAGTGGCCATGAT	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2971G>A	15.37:g.82443824C>T	ENSP00000268206:p.Ala991Thr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	141	0.06456043956043957	87	0.17682926829268292	26	0.0718232044198895	5	0.008741258741258742	23	0.030343007915567283	C	18.87	3.715333	0.68844	0.120231	0.035834	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.62498	0.02;0.02	6.16	6.16	0.99307	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.45867	D	0.000334	T	0.00210	0.0006	L	0.36672	1.1	0.09310	P	0.9999999986533	P;P	0.41848	0.481;0.763	B;B	0.42522	0.263;0.39	T	0.00129	-1.2016	9	0.34782	T	0.22	-6.8926	20.8598	0.99761	0.0:1.0:0.0:0.0	.	940;991	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	991;940	ENSP00000268206:A991T;ENSP00000352418:A940T	ENSP00000268206:A991T	A	-	1	0	EFTUD1	80230879	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.810000	0.62598	2.937000	0.99478	0.650000	0.86243	GCC	C|0.942;T|0.058	0.058	strong		0.448	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		T	82443824	C	T	82443824	3	4	22	1	0	0	0	0	1	0	0	0	4960	739	26	2	403	2	EFTUD1	15	82443824	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	801952	82443824	20087568	7865	12973										
EFTUD1	79631	hgsc.bcm.edu	37	chr15	82533686	82533686	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaacagcggttgatacttcTgaggaaaagtccacgtgtcc	11	10	1	2	rs11548681	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:82533686T>G	ENST00000268206.7	-	5	471	c.303A>C	c.(301-303)tcA>tcC	p.S101S	EFTUD1_ENST00000359445.3_Silent_p.S50S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	101	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTGATACTTCTGAGGAAAAGT	0.418													T|||	196	0.0391374	0.0794	0.0288	5008	,	,		20495	0.0347		0.0258	False		,,,				2504	0.0102				p.S101S		Atlas-SNP	.											.	EFTUD1	74	.	0			c.A303C						PASS	.	T	,	330,3512		10,310,1601	87	78	81		150,303	-8.6	0.1	15	dbSNP_120	81	188,8076		6,176,3950	no	coding-synonymous,coding-synonymous	EFTUD1	NM_001040610.2,NM_024580.5	,	16,486,5551	GG,GT,TT		2.2749,8.5893,4.2789	,	50/1070,101/1121	82533686	518,11588	1921	4132	6053	SO:0001819	synonymous_variant	79631	exon5			TACTTCTGAGGAA	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.303A>C	15.37:g.82533686T>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																			T|0.969;G|0.031	0.031	strong		0.418	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		G	82533686	T	G	82533686	2	3	22	1	0	0	0	0	0	0	0	1	4960	1567	55	5		5	EFTUD1	15	82533686	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	89862	82533686	19997706	7866	12974										
AP3B2	8120	hgsc.bcm.edu	37	chr15	83334245	83334245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgggtctggggcttcctcCggccagtctgggagctcctg	16	12	2	0	rs9806343	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83334245C>T	ENST00000261722.3	-	16	2142	c.1935G>A	c.(1933-1935)ccG>ccA	p.P645P	AP3B2_ENST00000535359.1_Silent_p.P645P|AP3B2_ENST00000535348.1_Silent_p.P613P|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	645					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGCTTCCTCCGGCCAGTCTG	0.592													C|||	276	0.0551118	0.1241	0.0793	5008	,	,		16999	0.0		0.0258	False		,,,				2504	0.0317				p.P645P		Atlas-SNP	.											.	AP3B2	103	.	0			c.G1935A						PASS	.	C		458,3890		25,408,1741	81	93	89		1935	-6.7	1	15	dbSNP_119	89	240,8330		3,234,4048	no	coding-synonymous	AP3B2	NM_004644.3		28,642,5789	TT,TC,CC		2.8005,10.5336,5.4033		645/1083	83334245	698,12220	2174	4285	6459	SO:0001819	synonymous_variant	8120	exon16			TTCCTCCGGCCAG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1935G>A	15.37:g.83334245C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_004644	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																			C|0.956;T|0.044	0.044	strong		0.592	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			T	83334245	C	T	83334245	2	4	22	1	0	0	0	0	0	0	0	1	745	639	23	1		1	AP3B2	15	83334245	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	800559	83334245	19197147	7867	12975										
FSD2	123722	hgsc.bcm.edu	37	chr15	83428192	83428192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacagggatgcacaaattCgtgaagctgacaactaaatg	9	7	0	2	rs1108134	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83428192C>T	ENST00000334574.8	-	13	2339	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	RP11-752G15.6_ENST00000561107.1_RNA|FSD2_ENST00000541889.1_Missense_Mutation_p.E675K|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000559366.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	720	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		E -> K (in dbSNP:rs1108134).							breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGCACAAATTCGTGAAGCTGA	0.348													c|||	481	0.0960463	0.1256	0.1628	5008	,	,		20459	0.001		0.16	False		,,,				2504	0.0409				p.E720K		Atlas-SNP	.											.	FSD2	45	.	0			c.G2158A						PASS	.		LYS/GLU	526,3170		32,462,1354	71	69	69		2158	1.7	0	15	dbSNP_86	69	1379,6823		109,1161,2831	yes	missense	FSD2	NM_001007122.2	56	141,1623,4185	TT,TC,CC		16.813,14.2316,16.0111	benign	720/750	83428192	1905,9993	1848	4101	5949	SO:0001583	missense	123722	exon13			CAAATTCGTGAAG	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2158G>A	15.37:g.83428192C>T	ENSP00000335651:p.Glu720Lys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_001007122	B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	257	0.11767399267399267	74	0.15040650406504066	64	0.17679558011049723	4	0.006993006993006993	115	0.1517150395778364	c	7.367	0.626101	0.14257	0.142316	0.16813	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.15834	2.39;2.39	5.86	1.71	0.24356	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.577689	0.18596	N	0.136589	T	0.00039	0.0001	L	0.52573	1.65	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.31943	-0.9925	9	0.17832	T	0.49	0.0763	6.7726	0.23602	0.0658:0.2404:0.5729:0.1209	rs1108134;rs4262919;rs61477553;rs1108134	675;720	B7ZM02;A1L4K1	.;FSD2_HUMAN	K	720;675	ENSP00000335651:E720K;ENSP00000444078:E675K	ENSP00000335651:E720K	E	-	1	0	FSD2	81225246	0.878000	0.30173	0.001000	0.08648	0.483000	0.33249	2.146000	0.42216	0.496000	0.27904	-0.836000	0.03065	GAA	C|0.869;T|0.131	0.131	strong		0.348	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		T	83428192	C	T	83428192	3	4	22	1	0	0	0	0	1	0	0	0	6071	893	31	1	95	1	FSD2	15	83428192	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93947	83428192	19103200	7868	12976										
WHAMM	123720	hgsc.bcm.edu	37	chr15	83499665	83499665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccaccaccgccgccaccGccgcccccaccccctcctct	4	29	1	0	rs3814282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83499665G>A	ENST00000286760.4	+	9	2055	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	652	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						cgccgccaccgccgcccccac	0.572													G|||	888	0.177316	0.0923	0.1081	5008	,	,		9240	0.2044		0.1223	False		,,,				2504	0.3701				p.P652P		Atlas-SNP	.											.	WHAMM	63	.	0			c.G1956A						PASS	.	G		334,3466		22,290,1588	13	15	15		1956	-8.2	0	15	dbSNP_107	15	1101,7071		88,925,3073	no	coding-synonymous	WHAMM	NM_001080435.1		110,1215,4661	AA,AG,GG		13.4728,8.7895,11.9863		652/810	83499665	1435,10537	1900	4086	5986	SO:0001819	synonymous_variant	123720	exon9			GCCACCGCCGCCC	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1956G>A	15.37:g.83499665G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	66	25	0.378788	NM_001080435	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																			G|0.863;A|0.137	0.137	strong		0.572	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			A	83499665	G	A	83499665	2	1	22	1	0	0	0	0	0	0	0	1	17358	1074	38	1		1	WHAMM	15	83499665	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71473	83499665	19031727	7869	12977										
WHAMM	123720	hgsc.bcm.edu	37	chr15	83499766	83499766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaaagatgaccagccacGtcctctagtgtgcgaatcac	10	11	2	3	rs3814281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83499766G>A	ENST00000286760.4	+	9	2156	c.2057G>A	c.(2056-2058)cGt>cAt	p.R686H		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	686	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.		R -> H (in dbSNP:rs3814281).		actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GACCAGCCACGTCCTCTAGTG	0.557													G|||	884	0.176518	0.0893	0.1066	5008	,	,		13192	0.2044		0.1223	False		,,,				2504	0.3712				p.R686H		Atlas-SNP	.											.	WHAMM	63	.	0			c.G2057A						PASS	.	G	HIS/ARG	399,3911		22,355,1778	87	92	90		2057	-1	0	15	dbSNP_107	90	1183,7365		93,997,3184	yes	missense	WHAMM	NM_001080435.1	29	115,1352,4962	AA,AG,GG		13.8395,9.2575,12.3036	benign	686/810	83499766	1582,11276	2155	4274	6429	SO:0001583	missense	123720	exon9			AGCCACGTCCTCT	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2057G>A	15.37:g.83499766G>A	ENSP00000286760:p.Arg686His	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	51	24	0.470588	NM_001080435	Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	292	0.1336996336996337	57	0.11585365853658537	41	0.1132596685082873	102	0.17832167832167833	92	0.12137203166226913	G	10.84	1.463252	0.26248	0.092575	0.138395	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08370	3.1	4.58	-1.03	0.10102	.	1.727280	0.03091	N	0.159766	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.13145	0.007	B	0.06405	0.002	T	0.45056	-0.9287	9	0.14252	T	0.57	.	11.8047	0.52147	0.0:0.0:0.6383:0.3617	rs3814281;rs52812483;rs57439210;rs3814281	686	Q8TF30	WHAMM_HUMAN	H	686	ENSP00000286760:R686H	ENSP00000234505:R686H	R	+	2	0	WHAMM	81296820	0.000000	0.05858	0.001000	0.08648	0.451000	0.32288	-0.434000	0.06939	-0.351000	0.08249	-1.135000	0.01939	CGT	G|0.866;A|0.134	0.134	strong		0.557	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			A	83499766	G	A	83499766	3	1	22	1	0	0	0	0	1	0	0	0	17358	1145	40	1	2091	1	WHAMM	15	83499766	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101	83499766	19031626	7870	12978										
C15orf40	123207	hgsc.bcm.edu	37	chr15	83673653	83673653	+	3'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctagaaaaactgcattcAacaagtagtccaaggatttg	7	7	2	1	rs74028206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83673653A>C	ENST00000513601.2	-	0	1165				C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000304177.5_3'UTR|RP11-382A20.5_ENST00000566841.1_RNA			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						AACTGCATTCAACAAGTagtc	0.393													A|||	66	0.0131789	0.0386	0.0173	5008	,	,		15049	0.0		0.003	False		,,,				2504	0.0				p.V146V		Atlas-SNP	.											.	C15orf40	18	.	0			c.T438G						PASS	.	A	,,,	38,1346		1,36,655	112	100	104		438,,,	1.1	0	15	dbSNP_130	104	0,3182		0,0,1591	no	coding-synonymous,intron,intron,utr-3	C15orf40	NM_001160114.1,NM_001160115.1,NM_001160116.1,NM_144597.2	,,,	1,36,2246	CC,CA,AA		0.0,2.7457,0.8322	,,,	146/154,,,	83673653	38,4528	692	1591	2283	SO:0001624	3_prime_UTR_variant	123207	exon4			GCATTCAACAAGT	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.*696T>G	15.37:g.83673653A>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	101	53	0.524752	NM_001160114	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	ENST00000513601.2	37	CCDS32312.2																																																																																			A|0.985;C|0.015	0.015	strong		0.393	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		C	83673653	A	C	83673653	1	2	22	0	1	0	0	0	0	0	0	0	1794	117	5	5		5	C15orf40	15	83673653	3'UTR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	173887	83673653	18857739	7871	12979										
C15orf40	123207	hgsc.bcm.edu	37	chr15	83680313	83680313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgagcggagccccgagtaTtgggtgttgcccgaaggtgc	17	11	0	0	rs114478510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83680313T>G	ENST00000513601.2	-	1	54	c.47A>C	c.(46-48)aAt>aCt	p.N16T	C15orf40_ENST00000451195.3_Missense_Mutation_p.N16T|RP11-382A20.7_ENST00000570202.1_RNA|C15orf40_ENST00000538348.2_Missense_Mutation_p.N16T|C15orf40_ENST00000304177.5_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000565712.1_Missense_Mutation_p.N16T			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	16										large_intestine(3)|lung(2)|skin(1)	6						GCCCCGAGTATTGGGTGTTGC	0.692											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	50	0.00998403	0.028	0.0144	5008	,	,		14631	0.0		0.003	False		,,,				2504	0.0				p.N16T		Atlas-SNP	.											.	C15orf40	18	.	0			c.A47C						PASS	.	T	THR/ASN,THR/ASN,THR/ASN,THR/ASN,THR/ASN	69,4335		0,69,2133	21	22	22		47,47,47,47,47	1.6	0	15	dbSNP_132	22	5,8595		0,5,4295	yes	missense,missense,missense,missense,missense	C15orf40	NM_144597.2,NM_001160116.1,NM_001160115.1,NM_001160114.1,NM_001160113.1	65,65,65,65,65	0,74,6428	GG,GT,TT		0.0581,1.5668,0.5691	benign,benign,benign,benign,benign	16/154,16/150,16/168,16/154,16/168	83680313	74,12930	2202	4300	6502	SO:0001583	missense	123207	exon1			CGAGTATTGGGTG	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.47A>C	15.37:g.83680313T>G	ENSP00000424666:p.Asn16Thr	Somatic	37	0	0	1223	WXS	Illumina HiSeq	Phase_I	30	9	0.3	NM_001160116	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2	24	0.01098901098901099	16	0.032520325203252036	6	0.016574585635359115	0	0.0	2	0.002638522427440633	T	9.731	1.162258	0.21538	0.015668	5.81E-4	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000513601	.	.	.	3.61	1.58	0.23477	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.20764	N	0.99985	B;B;B	0.17038	0.02;0.02;0.008	B;B;B	0.11329	0.006;0.006;0.006	T	0.15350	-1.0440	8	0.42905	T	0.14	.	5.5455	0.17061	0.0:0.7421:0.0:0.2579	.	16;16;16	F8WD31;F5GX92;G5EA00	.;.;.	T	16	.	ENSP00000403987:N16T	N	-	2	0	C15orf40	81471317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.131000	0.10482	0.499000	0.27970	-0.624000	0.04008	AAT	T|0.992;G|0.008	0.008	strong		0.692	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		G	83680313	T	G	83680313	3	3	22	1	0	0	0	0	1	0	0	0	1794	1493	52	5	902	5	C15orf40	15	83680313	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6660	83680313	18851079	7872	12980										
C15orf40	123207	hgsc.bcm.edu	37	chr15	83680329	83680329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtattgggtgttgcccgaaGgtgcctcagcccgctgcgga	15	11	1	0	rs17361375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83680329G>A	ENST00000513601.2	-	1	38	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	C15orf40_ENST00000451195.3_Missense_Mutation_p.L11F|RP11-382A20.7_ENST00000570202.1_RNA|C15orf40_ENST00000538348.2_Missense_Mutation_p.L11F|C15orf40_ENST00000304177.5_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000565712.1_Missense_Mutation_p.L11F			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	11										large_intestine(3)|lung(2)|skin(1)	6						GTTGCCCGAAGGTGCCTCAGC	0.697											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	651	0.129992	0.1566	0.2291	5008	,	,		13813	0.003		0.1918	False		,,,				2504	0.091				p.L11F		Atlas-SNP	.											.	C15orf40	18	.	0			c.C31T						PASS	.	G	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	726,3678		46,634,1522	18	20	19		31,31,31,31,31	-1.2	0	15	dbSNP_123	19	1780,6820		176,1428,2696	yes	missense,missense,missense,missense,missense	C15orf40	NM_144597.2,NM_001160116.1,NM_001160115.1,NM_001160114.1,NM_001160113.1	22,22,22,22,22	222,2062,4218	AA,AG,GG		20.6977,16.485,19.271	benign,benign,benign,benign,benign	11/154,11/150,11/168,11/154,11/168	83680329	2506,10498	2202	4300	6502	SO:0001583	missense	123207	exon1			CCCGAAGGTGCCT	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.31C>T	15.37:g.83680329G>A	ENSP00000424666:p.Leu11Phe	Somatic	25	0	0	1223	WXS	Illumina HiSeq	Phase_I	25	17	0.68	NM_001160116	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2	290	0.13278388278388278	71	0.1443089430894309	73	0.20165745856353592	1	0.0017482517482517483	145	0.19129287598944592	G	10.89	1.479786	0.26511	0.16485	0.206977	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000513601	.	.	.	3.61	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.51482	P	7.900000000005125E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.36939	-0.9727	7	0.11182	T	0.66	.	3.9244	0.09257	0.2978:0.3667:0.3354:0.0	rs17361375;rs17361375	11;11;11	F8WD31;F5GX92;G5EA00	.;.;.	F	11	.	ENSP00000403987:L11F	L	-	1	0	C15orf40	81471333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.601000	0.05687	-0.228000	0.09869	-1.717000	0.00709	CTT	G|0.855;A|0.145	0.145	strong		0.697	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		A	83680329	G	A	83680329	3	1	22	1	0	0	0	0	1	0	0	0	1794	1000	35	2	918	2	C15orf40	15	83680329	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16	83680329	18851063	7873	12981										
BTBD1	53339	hgsc.bcm.edu	37	chr15	83725291	83725291	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgaacttcatctgaataTagaaatctggaaaacaattg	6	5	3	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:83725291T>A	ENST00000261721.4	-	2	610	c.408A>T	c.(406-408)ctA>ctT	p.L136L	BTBD1_ENST00000379403.2_Silent_p.L136L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	136	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CATCTGAATATAGAAATCTGG	0.358																																					p.L136L		Atlas-SNP	.											BTBD1,NS,carcinoma,-2,1	BTBD1	32	1	0			c.A408T						PASS	.						87	83	84					15																	83725291		2203	4300	6503	SO:0001819	synonymous_variant	53339	exon2			TGAATATAGAAAT	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.408A>T	15.37:g.83725291T>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	87	35	0.402299	NM_025238	A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	ENST00000261721.4	37	CCDS10322.1																																																																																			.	.	none		0.358	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			A	83725291	T	A	83725291	2	1	22	1	0	0	0	0	0	0	0	1	1537	1393	49	5		5	BTBD1	15	83725291	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44962	83725291	18806101	7874	12982										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84539619	84539619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaacagccccggcgtctttCtcgtagaaaacacaacagtg	8	12	2	1	rs4144691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84539619C>G	ENST00000286744.5	+	9	1092	c.868C>G	c.(868-870)Ctc>Gtc	p.L290V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L290V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	290			L -> V (in dbSNP:rs4144691). {ECO:0000269|PubMed:14667842}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGGCGTCTTTCTCGTAGAAAA	0.388													G|||	4044	0.807508	0.9629	0.9078	5008	,	,		15806	0.7232		0.7833	False		,,,				2504	0.638				p.L290V		Atlas-SNP	.											.	ADAMTSL3	290	.	0			c.C868G						PASS	.	G	VAL/LEU	4133,273	150.7+/-184.7	1945,243,15	62	68	66		868	1.7	0	15	dbSNP_110	66	6900,1700	308.6+/-309.0	2754,1392,154	yes	missense	ADAMTSL3	NM_207517.2	32	4699,1635,169	GG,GC,CC		19.7674,6.1961,15.1699	benign	290/1692	84539619	11033,1973	2203	4300	6503	SO:0001583	missense	57188	exon9			GTCTTTCTCGTAG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.868C>G	15.37:g.84539619C>G	ENSP00000286744:p.Leu290Val	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	25	25	1	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	1787	0.8182234432234432	467	0.9491869918699187	320	0.8839779005524862	414	0.7237762237762237	586	0.7730870712401056	G	0	-2.816932	0.00072	0.938039	0.802326	ENSG00000156218	ENST00000286744	T	0.63744	-0.06	4.69	1.68	0.24146	.	1.092520	0.07042	N	0.830385	T	0.00012	0.0000	N	0.05414	-0.055	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39623	-0.9605	9	0.02654	T	1	.	5.542	0.17043	0.3257:0.1359:0.5384:0.0	rs4144691;rs17841183;rs52823048;rs59718593;rs4144691	290;290	P82987-2;P82987	.;ATL3_HUMAN	V	290	ENSP00000286744:L290V	ENSP00000286744:L290V	L	+	1	0	ADAMTSL3	82330623	0.998000	0.40836	0.002000	0.10522	0.021000	0.10359	1.054000	0.30455	-0.175000	0.10725	-0.357000	0.07601	CTC	C|0.164;G|0.836	0.836	strong		0.388	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		G	84539619	C	G	84539619	3	3	22	1	0	0	0	0	1	0	0	0	276	913	32	4	898	4	ADAMTSL3	15	84539619	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	814328	84539619	17991773	7875	12983										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84581889	84581889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagtaccacgtgtgggccGggtgtgcaggtccgtgaggt	18	9	0	1	rs12439867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84581889G>A	ENST00000286744.5	+	16	1970	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	ADAMTSL3_ENST00000567476.1_Silent_p.P582P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	582	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGTGTGGGCCGGGTGTGCAGG	0.567													G|||	1935	0.386382	0.4871	0.4914	5008	,	,		17531	0.3294		0.2117	False		,,,				2504	0.4141				p.P582P		Atlas-SNP	.											.	ADAMTSL3	290	.	0			c.G1746A						PASS	.	G		1938,2468	547.0+/-377.2	422,1094,687	87	81	83		1746	-9.8	0	15	dbSNP_120	83	1812,6788	324.9+/-316.7	184,1444,2672	no	coding-synonymous	ADAMTSL3	NM_207517.2		606,2538,3359	AA,AG,GG		21.0698,43.9855,28.8328		582/1692	84581889	3750,9256	2203	4300	6503	SO:0001819	synonymous_variant	57188	exon16			TGGGCCGGGTGTG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1746G>A	15.37:g.84581889G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																			G|0.688;A|0.312	0.312	strong		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84581889	G	A	84581889	2	1	22	1	0	0	0	0	0	0	0	1	276	1103	39	1		1	ADAMTSL3	15	84581889	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42270	84581889	17949503	7876	12984										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84581904	84581904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccgggtgtgcaggtccgTgaggtgaagtgccgtgtgct	20	8	0	2	rs4842923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84581904T>C	ENST00000286744.5	+	16	1985	c.1761T>C	c.(1759-1761)cgT>cgC	p.R587R	ADAMTSL3_ENST00000567476.1_Silent_p.R587R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCAGGTCCGTGAGGTGAAGT	0.607													C|||	3436	0.686102	0.8306	0.7248	5008	,	,		17539	0.7202		0.5308	False		,,,				2504	0.5879				p.R587R		Atlas-SNP	.											ADAMTSL3,colon,carcinoma,+1,2	ADAMTSL3	290	2	0			c.T1761C						PASS	.	C		3417,989	369.8+/-319.3	1330,757,116	90	81	84		1761	-9.8	0	15	dbSNP_111	84	4624,3976	550.9+/-385.8	1252,2120,928	no	coding-synonymous	ADAMTSL3	NM_207517.2		2582,2877,1044	CC,CT,TT		46.2326,22.4467,38.1747		587/1692	84581904	8041,4965	2203	4300	6503	SO:0001819	synonymous_variant	57188	exon16			GGTCCGTGAGGTG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1761T>C	15.37:g.84581904T>C		Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																			T|0.354;C|0.646	0.646	strong		0.607	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		C	84581904	T	C	84581904	2	2	22	1	0	0	0	0	0	0	0	1	276	1683	59	2		2	ADAMTSL3	15	84581904	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15	84581904	17949488	7877	12985										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84582124	84582124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccttgcacagcaacatgcGtgggaggtatttgaaccttt	10	11	0	1	rs4842838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84582124G>T	ENST00000286744.5	+	16	2205	c.1981G>T	c.(1981-1983)Gtg>Ttg	p.V661L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V661L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	661			V -> L (in dbSNP:rs4842838). {ECO:0000269|PubMed:14667842}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAACATGCGTGGGAGGTAT	0.498													T|||	3434	0.685703	0.8306	0.7248	5008	,	,		18879	0.7202		0.5318	False		,,,				2504	0.5849				p.V661L		Atlas-SNP	.											.	ADAMTSL3	290	.	0			c.G1981T						PASS	.	T	LEU/VAL	3420,986	364.6+/-317.1	1332,756,115	36	40	38	http://www.ncbi.nlm.nih.gov/pubmed?term	1981	-1.8	0	15	dbSNP_111	38	4620,3980	547.3+/-385.1	1250,2120,930	yes	missense	ADAMTSL3	NM_207517.2	32	2582,2876,1045	TT,TG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	46.2791,22.3786,38.1824	benign	661/1692	84582124	8040,4966	2203	4300	6503	SO:0001583	missense	57188	exon16			ACATGCGTGGGAG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1981G>T	15.37:g.84582124G>T	ENSP00000286744:p.Val661Leu	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	47	47	1	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	1469	0.6726190476190477	404	0.8211382113821138	248	0.6850828729281768	413	0.722027972027972	404	0.5329815303430079	T	9.774	1.173578	0.21704	0.776214	0.537209	ENSG00000156218	ENST00000286744	T	0.60424	0.19	5.05	-1.79	0.07932	.	1.774700	0.02812	N	0.124530	T	0.00012	0.0000	N	0.00174	-1.93	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37291	-0.9712	9	0.09590	T	0.72	.	2.979	0.05947	0.1094:0.3784:0.224:0.2883	rs4842838;rs61613424;rs4842838	661;661	P82987-2;P82987	.;ATL3_HUMAN	L	661	ENSP00000286744:V661L	ENSP00000286744:V661L	V	+	1	0	ADAMTSL3	82373128	0.387000	0.25188	0.038000	0.18304	0.967000	0.64934	0.155000	0.16362	-0.598000	0.05806	-0.362000	0.07510	GTG	G|0.348;T|0.652	0.652	strong		0.498	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84582124	G	T	84582124	3	4	22	1	0	0	0	0	1	0	0	0	276	1145	40	4	2039	4	ADAMTSL3	15	84582124	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	220	84582124	17949268	7878	12986										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84639350	84639350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcagggatctaccagggCtccctcttgtaagatcttgc	11	11	3	1	rs2277849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84639350C>T	ENST00000286744.5	+	20	2829	c.2605C>T	c.(2605-2607)Ctc>Ttc	p.L869F	ADAMTSL3_ENST00000567716.1_3'UTR|ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L869F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	869	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.		L -> F (in dbSNP:rs2277849). {ECO:0000269|PubMed:15489334}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L869F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTACCAGGGCTCCCTCTTGT	0.522													C|||	1304	0.260383	0.3714	0.1571	5008	,	,		20793	0.3442		0.2714	False		,,,				2504	0.0859				p.L869F		Atlas-SNP	.											ADAMTSL3,NS,carcinoma,0,1	ADAMTSL3	290	1	1	Substitution - Missense(1)	stomach(1)	c.C2605T						PASS	.	C	PHE/LEU	1537,2869	486.2+/-360.5	252,1033,918	184	161	169		2605	2.4	0.1	15	dbSNP_100	169	2269,6331	383.0+/-340.6	291,1687,2322	yes	missense	ADAMTSL3	NM_207517.2	22	543,2720,3240	TT,TC,CC		26.3837,34.8842,29.2634	possibly-damaging	869/1692	84639350	3806,9200	2203	4300	6503	SO:0001583	missense	57188	exon20			CCAGGGCTCCCTC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2605C>T	15.37:g.84639350C>T	ENSP00000286744:p.Leu869Phe	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	109	45	0.412844	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	638	0.29212454212454214	158	0.32113821138211385	64	0.17679558011049723	199	0.3479020979020979	217	0.2862796833773087	C	19.35	3.810236	0.70797	0.348842	0.263837	ENSG00000156218	ENST00000286744	T	0.62232	0.04	4.39	2.38	0.29361	.	0.810196	0.10421	N	0.676704	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	P;P	0.42941	0.606;0.794	B;P	0.45998	0.435;0.5	T	0.17501	-1.0367	9	0.54805	T	0.06	.	8.0735	0.30704	0.0:0.6773:0.1475:0.1752	rs2277849;rs17370789;rs52816289;rs61270368;rs2277849	869;869	P82987-2;P82987	.;ATL3_HUMAN	F	869	ENSP00000286744:L869F	ENSP00000286744:L869F	L	+	1	0	ADAMTSL3	82430354	0.428000	0.25522	0.121000	0.21740	0.978000	0.69477	1.014000	0.29950	1.043000	0.40175	0.650000	0.86243	CTC	C|0.712;T|0.288	0.288	strong		0.522	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84639350	C	T	84639350	3	4	22	1	0	0	0	0	1	0	0	0	276	797	28	2	2679	2	ADAMTSL3	15	84639350	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57226	84639350	17892042	7879	12987										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84683428	84683428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacctacgtctgcatagccAccaatgctcttggaaaggca	9	12	2	0	rs17158450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:84683428A>G	ENST00000286744.5	+	24	4332	c.4108A>G	c.(4108-4110)Acc>Gcc	p.T1370A	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T1370A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1370	Ig-like C2-type 3.		T -> A (in dbSNP:rs17158450).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCATAGCCACCAATGCTCT	0.443													A|||	240	0.0479233	0.1717	0.0187	5008	,	,		20971	0.0		0.0	False		,,,				2504	0.0				p.T1370A		Atlas-SNP	.											.	ADAMTSL3	290	.	0			c.A4108G						PASS	.	A	ALA/THR	680,3726	286.6+/-278.8	50,580,1573	134	125	128		4108	2.7	1	15	dbSNP_123	128	7,8591	6.4+/-24.3	0,7,4292	yes	missense	ADAMTSL3	NM_207517.2	58	50,587,5865	GG,GA,AA		0.0814,15.4335,5.283	benign	1370/1692	84683428	687,12317	2203	4299	6502	SO:0001583	missense	57188	exon24			ATAGCCACCAATG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4108A>G	15.37:g.84683428A>G	ENSP00000286744:p.Thr1370Ala	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	159	63	0.396226	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	94	0.04304029304029304	86	0.17479674796747968	8	0.022099447513812154	0	0.0	0	0.0	A	2.759	-0.258227	0.05791	0.154335	8.14E-4	ENSG00000156218	ENST00000286744	T	0.68903	-0.36	5.03	2.73	0.32206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188900	0.26149	N	0.026056	T	0.00210	0.0006	L	0.46741	1.465	0.30564	P	0.7641979999999999	B;B	0.17465	0.002;0.022	B;B	0.19946	0.01;0.027	T	0.06991	-1.0796	9	0.10111	T	0.7	.	8.0282	0.30448	0.7665:0.0:0.2335:0.0	rs17158450;rs52789838;rs17158450	1370;1370	P82987-2;P82987	.;ATL3_HUMAN	A	1370	ENSP00000286744:T1370A	ENSP00000286744:T1370A	T	+	1	0	ADAMTSL3	82474432	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.012000	0.29924	0.760000	0.33108	0.454000	0.30748	ACC	A|0.943;G|0.057	0.057	strong		0.443	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		G	84683428	A	G	84683428	3	3	22	1	0	0	0	0	1	0	0	0	276	159	6	2	4198	2	ADAMTSL3	15	84683428	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44078	84683428	17847964	7880	12988										
ZSCAN2	54993	hgsc.bcm.edu	37	chr15	85164530	85164530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgaatgtaaagaatgcggCgaaagctttagttacaactc	9	7	0	1	rs115131715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85164530C>T	ENST00000448803.2	+	3	1396	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.G367G|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.G218G|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.G368G	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	368					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAGAATGCGGCGAAAGCTTTA	0.502													C|||	49	0.00978435	0.0363	0.0014	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0				p.G368G		Atlas-SNP	.											.	ZSCAN2	43	.	0			c.C1104T						PASS	.	C		132,4274	96.2+/-134.9	3,126,2074	132	137	135		1104	-6.7	0.8	15	dbSNP_132	135	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		3,127,6372	TT,TC,CC		0.0116,2.9959,1.0228		368/615	85164530	133,12871	2203	4299	6502	SO:0001819	synonymous_variant	54993	exon3			ATGCGGCGAAAGC	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1104C>T	15.37:g.85164530C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	35	0.57377	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	CCDS10329.2																																																																																			C|0.988;T|0.012	0.012	strong		0.502	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		T	85164530	C	T	85164530	2	4	22	1	0	0	0	0	0	0	0	1	18228	755	27	1		1	ZSCAN2	15	85164530	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481102	85164530	17366862	7881	12989										
WDR73	84942	hgsc.bcm.edu	37	chr15	85188839	85188839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtcaagaagacaaagaCgcccatctgagccaaggctg	14	10	2	4	rs11073619	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85188839C>T	ENST00000434634.2	-	7	806	c.746G>A	c.(745-747)cGt>cAt	p.R249H	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	249			R -> H (in dbSNP:rs11073619).							cervix(1)|large_intestine(1)|lung(1)	3						AAGACAAAGACGCCCATCTGA	0.627													C|||	408	0.0814696	0.1097	0.1902	5008	,	,		16265	0.002		0.1074	False		,,,				2504	0.0215				p.R249H		Atlas-SNP	.											.	WDR73	15	.	0			c.G746A						PASS	.	C	HIS/ARG	441,3489		29,383,1553	25	30	29		746	2.2	0.9	15	dbSNP_120	29	781,7523		38,705,3409	yes	missense	WDR73	NM_032856.2	29	67,1088,4962	TT,TC,CC		9.4051,11.2214,9.9886	benign	249/379	85188839	1222,11012	1965	4152	6117	SO:0001583	missense	84942	exon7			CAAAGACGCCCAT	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.746G>A	15.37:g.85188839C>T	ENSP00000387982:p.Arg249His	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_032856	Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	CCDS45339.1	218	0.09981684981684982	71	0.1443089430894309	58	0.16022099447513813	2	0.0034965034965034965	87	0.11477572559366754	C	2.708	-0.269511	0.05716	0.112214	0.094051	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.29397	1.57	5.8	2.21	0.28008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.634443	0.17879	N	0.158934	T	0.00039	0.0001	N	0.01352	-0.895	0.47153	P	6.690000000000307E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.32561	-0.9902	9	0.23302	T	0.38	-17.6382	6.6191	0.22792	0.1385:0.0823:0.0:0.7792	rs11073619;rs52820653;rs58160077;rs11073619	249	Q6P4I2	WDR73_HUMAN	H	257;249	ENSP00000387982:R249H	ENSP00000381539:R257H	R	-	2	0	WDR73	82989843	0.891000	0.30450	0.864000	0.33941	0.138000	0.21146	0.344000	0.19962	0.111000	0.17947	-1.110000	0.02074	CGT	C|0.903;T|0.097	0.097	strong		0.627	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		T	85188839	C	T	85188839	3	4	22	1	0	0	0	0	1	0	0	0	17320	536	19	1	398	1	WDR73	15	85188839	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24309	85188839	17342553	7882	12990										
ZNF592	9640	hgsc.bcm.edu	37	chr15	85326315	85326315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagtcagagccattacccAccttcaaccagttcagtcca	5	16	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85326315A>C	ENST00000560079.2	+	4	697	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	ZNF592_ENST00000299927.3_Missense_Mutation_p.T137P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	137					cell death (GO:0008219)|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(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCATTACCCACCTTCAACCA	0.478																																					p.T137P		Atlas-SNP	.											.	ZNF592	95	.	0			c.A409C						PASS	.						99	105	103					15																	85326315		2203	4299	6502	SO:0001583	missense	9640	exon4			TTACCCACCTTCA	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.409A>C	15.37:g.85326315A>C	ENSP00000452877:p.Thr137Pro	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196504	0.58126	.	.	ENSG00000166716	ENST00000299927	T	0.00640	6.03	6.06	6.06	0.98353	.	0.249606	0.46145	D	0.000302	T	0.02156	0.0067	L	0.48642	1.525	0.43852	D	0.99644	D	0.65815	0.995	D	0.63381	0.914	T	0.64580	-0.6374	10	0.72032	D	0.01	-20.196	14.5614	0.68140	1.0:0.0:0.0:0.0	.	137	Q92610	ZN592_HUMAN	P	137	ENSP00000299927:T137P	ENSP00000299927:T137P	T	+	1	0	ZNF592	83127319	0.986000	0.35501	0.998000	0.56505	0.999000	0.98932	3.000000	0.49481	2.324000	0.78689	0.533000	0.62120	ACC	.	.	none		0.478	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		C	85326315	A	C	85326315	3	2	22	1	0	0	0	0	1	0	0	0	18019	159	6	5	411	5	ZNF592	15	85326315	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	137476	85326315	17205077	7883	12991										
ALPK3	57538	hgsc.bcm.edu	37	chr15	85402610	85402610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcagcgcccagtgggcgaGgtgggcaggaggtaagccaa	18	9	1	0	rs34122391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85402610G>A	ENST00000258888.5	+	7	4727	c.4560G>A	c.(4558-4560)gaG>gaA	p.E1520E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTGGGCGAGGTGGGCAGGA	0.557													G|||	466	0.0930511	0.0893	0.0216	5008	,	,		19824	0.1994		0.0378	False		,,,				2504	0.0961				p.E1520E		Atlas-SNP	.											.	ALPK3	289	.	0			c.G4560A						PASS	.	G		368,4038	185.0+/-212.2	22,324,1857	65	57	60		4560	1.7	1	15	dbSNP_126	60	288,8310	104.2+/-165.2	5,278,4016	no	coding-synonymous	ALPK3	NM_020778.4		27,602,5873	AA,AG,GG		3.3496,8.3522,5.0446		1520/1908	85402610	656,12348	2203	4299	6502	SO:0001819	synonymous_variant	57538	exon7			GGGCGAGGTGGGC	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4560G>A	15.37:g.85402610G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_020778	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																			G|0.941;A|0.059	0.059	strong		0.557	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85402610	G	A	85402610	2	1	22	1	0	0	0	0	0	0	0	1	546	991	35	2		2	ALPK3	15	85402610	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76295	85402610	17128782	7884	12992										
ALPK3	57538	hgsc.bcm.edu	37	chr15	85403104	85403104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacaatgagcacggctcgGcctccaccgacttctgcctc	8	18	1	1	rs114686452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85403104G>A	ENST00000258888.5	+	8	4836	c.4669G>A	c.(4669-4671)Gcc>Acc	p.A1557T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1557	Ig-like 2.		A -> D (in dbSNP:rs34775428). {ECO:0000269|PubMed:17344846}.		heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCACGGCTCGGCCTCCACCGA	0.687													G|||	11	0.00219649	0.0083	0.0	5008	,	,		16937	0.0		0.0	False		,,,				2504	0.0				p.A1557T		Atlas-SNP	.											.	ALPK3	289	.	0			c.G4669A						PASS	.	G	THR/ALA	17,4389	24.3+/-50.5	0,17,2186	57	55	55		4669	3.6	0.6	15	dbSNP_132	55	0,8598		0,0,4299	yes	missense	ALPK3	NM_020778.4	58	0,17,6485	AA,AG,GG		0.0,0.3858,0.1307	possibly-damaging	1557/1908	85403104	17,12987	2203	4299	6502	SO:0001583	missense	57538	exon8			GGCTCGGCCTCCA	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4669G>A	15.37:g.85403104G>A	ENSP00000258888:p.Ala1557Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	103	46	0.446602	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	22.4	4.289118	0.80914	0.003858	0.0	ENSG00000136383	ENST00000258888	T	0.06687	3.27	5.52	3.62	0.41486	Immunoglobulin-like (1);Protein kinase-like domain (1);Immunoglobulin-like fold (1);	0.331817	0.30383	N	0.009744	T	0.07863	0.0197	L	0.34521	1.04	0.26266	N	0.978497	D	0.60575	0.988	P	0.54590	0.756	T	0.12344	-1.0551	10	0.27082	T	0.32	-10.6766	9.2405	0.37493	0.0811:0.1467:0.7721:0.0	.	1557	Q96L96	ALPK3_HUMAN	T	1557	ENSP00000258888:A1557T	ENSP00000258888:A1557T	A	+	1	0	ALPK3	83204108	1.000000	0.71417	0.556000	0.28293	0.972000	0.66771	3.919000	0.56439	0.680000	0.31366	0.563000	0.77884	GCC	G|0.998;A|0.002	0.002	strong		0.687	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85403104	G	A	85403104	3	1	22	1	0	0	0	0	1	0	0	0	546	1203	42	2	4699	2	ALPK3	15	85403104	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	494	85403104	17128288	7885	12993										
SLC28A1	9154	hgsc.bcm.edu	37	chr15	85448796	85448796	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagggccgtgtcttggggActtggactgcagtttgtact	16	7	1	0	rs8187755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85448796A>T	ENST00000286749.3	+	7	720	c.630A>T	c.(628-630)ggA>ggT	p.G210G	SLC28A1_ENST00000394573.1_Silent_p.G210G|SLC28A1_ENST00000537624.1_Silent_p.G210G|SLC28A1_ENST00000538177.1_Silent_p.G210G|SLC28A1_ENST00000537216.1_Silent_p.G210G|SLC28A1_ENST00000537703.1_Silent_p.G132G			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	210					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGTCTTGGGGACTTGGACTGC	0.587													A|||	156	0.0311502	0.1142	0.0072	5008	,	,		19535	0.0		0.0	False		,,,				2504	0.0				p.G210G		Atlas-SNP	.											SLC28A1_ENST00000537624,NS,carcinoma,+1,2	SLC28A1	118	2	0			c.A630T						scavenged	.	A		404,4002	200.8+/-224.0	20,364,1819	215	172	186		630	1.1	1	15	dbSNP_123	186	3,8595	2.2+/-6.3	0,3,4296	no	coding-synonymous	SLC28A1	NM_004213.3		20,367,6115	TT,TA,AA		0.0349,9.1693,3.1298		210/650	85448796	407,12597	2203	4299	6502	SO:0001819	synonymous_variant	9154	exon8			TTGGGGACTTGGA	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.630A>T	15.37:g.85448796A>T		Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	198	74	0.373737	NM_004213	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																			A|0.973;T|0.027	0.027	strong		0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85448796	A	T	85448796	2	4	22	1	0	0	0	0	0	0	0	1	14531	262	10	5		5	SLC28A1	15	85448796	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45692	85448796	17082596	7886	12994										
SLC28A1	9154	hgsc.bcm.edu	37	chr15	85478573	85478573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctgctcctacatcctgCggcctgtagccttcttgatg	8	14	3	1	rs8187779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:85478573C>A	ENST00000286749.3	+	14	1495	c.1405C>A	c.(1405-1407)Cgg>Agg	p.R469R	SLC28A1_ENST00000394573.1_Silent_p.R469R|SLC28A1_ENST00000537624.1_Silent_p.R469R|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Silent_p.R469R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	469					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTACATCCTGCGGCCTGTAGC	0.607													C|||	34	0.00678914	0.0227	0.0043	5008	,	,		20483	0.0		0.001	False		,,,				2504	0.0				p.R469R		Atlas-SNP	.											SLC28A1,colon,carcinoma,-1,1	SLC28A1	118	1	0			c.C1405A						scavenged	.	C		79,4327	68.7+/-106.4	2,75,2126	110	88	95		1405	2.2	1	15	dbSNP_123	95	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	SLC28A1	NM_004213.3		2,79,6421	AA,AC,CC		0.0465,1.793,0.6383		469/650	85478573	83,12921	2203	4299	6502	SO:0001819	synonymous_variant	9154	exon15			ATCCTGCGGCCTG	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1405C>A	15.37:g.85478573C>A		Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	142	77	0.542253	NM_004213	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																			C|0.995;A|0.005	0.005	strong		0.607	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85478573	C	A	85478573	2	1	22	1	0	0	0	0	0	0	0	1	14531	759	27	4		4	SLC28A1	15	85478573	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29777	85478573	17052819	7887	12995										
AKAP13	11214	hgsc.bcm.edu	37	chr15	86182670	86182670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatctcttctggcttccaaGcagagcccaggtaagctgag	11	12	2	2	rs16942564	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:86182670G>A	ENST00000394518.2	+	9	4322	c.4227G>A	c.(4225-4227)aaG>aaA	p.K1409K	AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Silent_p.K1409K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1409					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						TGGCTTCCAAGCAGAGCCCAG	0.448													G|||	304	0.0607029	0.0681	0.1888	5008	,	,		19245	0.0377		0.0388	False		,,,				2504	0.0061				p.K1409K	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											.	AKAP13	394	.	0			c.G4227A						PASS	.	G	,	313,4091	166.9+/-198.0	12,289,1901	106	97	100		4227,4227	-1.5	0.7	15	dbSNP_123	100	353,8245	119.4+/-178.7	2,349,3948	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	14,638,5849	AA,AG,GG		4.1056,7.1072,5.1223	,	1409/2818,1409/2814	86182670	666,12336	2202	4299	6501	SO:0001819	synonymous_variant	11214	exon9			TTCCAAGCAGAGC	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.4227G>A	15.37:g.86182670G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	73	41	0.561644	NM_007200	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																			G|0.944;A|0.056	0.056	strong		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86182670	G	A	86182670	2	1	22	1	0	0	0	0	0	0	0	1	449	962	34	2		2	AKAP13	15	86182670	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	704097	86182670	16348722	7888	12996										
AGBL1	123624	hgsc.bcm.edu	37	chr15	86838497	86838497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctccagactcatcttgaCatcctggaaaagagtgtcaa	8	11	3	3	rs9630451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:86838497C>T	ENST00000441037.2	+	16	2189	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.D429D|AGBL1_ENST00000421325.2_Silent_p.D698D|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	698					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCATCTTGACATCCTGGAAA	0.423													C|||	894	0.178514	0.4546	0.0519	5008	,	,		20602	0.1567		0.0447	False		,,,				2504	0.0552				p.D698D		Atlas-SNP	.											.	AGBL1	151	.	0			c.C2094T						PASS	.	C		1501,2289		306,889,700	52	53	53		2094	-1.9	0	15	dbSNP_119	53	313,7919		5,303,3808	no	coding-synonymous	AGBL1	NM_152336.2		311,1192,4508	TT,TC,CC		3.8022,39.6042,15.089		698/1067	86838497	1814,10208	1895	4116	6011	SO:0001819	synonymous_variant	123624	exon16			TCTTGACATCCTG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2094C>T	15.37:g.86838497C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	73	73	1	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			C|0.819;T|0.181	0.181	strong		0.423	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86838497	C	T	86838497	2	4	22	1	0	0	0	0	0	0	0	1	375	477	17	2		2	AGBL1	15	86838497	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	655827	86838497	15692895	7889	12997										
AGBL1	123624	hgsc.bcm.edu	37	chr15	86940673	86940673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgggtgatgaagggtacCttggagttcctggtcagcag	16	6	1	2	rs1367647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:86940673C>T	ENST00000441037.2	+	17	2408	c.2313C>T	c.(2311-2313)acC>acT	p.T771T	AGBL1_ENST00000389298.3_Silent_p.T502T|AGBL1_ENST00000421325.2_Silent_p.T771T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	771					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAAGGGTACCTTGGAGTTCC	0.493													C|||	556	0.111022	0.0598	0.1844	5008	,	,		17522	0.0605		0.1024	False		,,,				2504	0.1892				p.T771T		Atlas-SNP	.											.	AGBL1	151	.	0			c.C2313T						PASS	.	C		281,3743		10,261,1741	144	141	142		2313	4.5	1	15	dbSNP_88	142	1071,7267		70,931,3168	no	coding-synonymous	AGBL1	NM_152336.2		80,1192,4909	TT,TC,CC		12.8448,6.9831,10.9367		771/1067	86940673	1352,11010	2012	4169	6181	SO:0001819	synonymous_variant	123624	exon17			GGGTACCTTGGAG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2313C>T	15.37:g.86940673C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	168	67	0.39881	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			C|0.912;T|0.088	0.088	strong		0.493	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86940673	C	T	86940673	2	4	22	1	0	0	0	0	0	0	0	1	375	668	24	2		2	AGBL1	15	86940673	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102176	86940673	15590719	7890	12998										
NTRK3	4916	hgsc.bcm.edu	37	chr15	88576215	88576215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgagggcgtggtgatgccGtggttgatgtggtgcagtgg	21	5	0	2	rs2229909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:88576215G>A	ENST00000360948.2	-	13	1619	c.1458C>T	c.(1456-1458)caC>caT	p.H486H	NTRK3_ENST00000558676.1_Silent_p.H478H|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Silent_p.H486H|NTRK3_ENST00000557856.1_Silent_p.H478H|NTRK3_ENST00000394480.2_Silent_p.H486H|NTRK3_ENST00000317501.3_Silent_p.H486H|NTRK3_ENST00000357724.2_Silent_p.H478H|NTRK3_ENST00000355254.2_Silent_p.H486H|NTRK3_ENST00000542733.2_Silent_p.H388H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	486					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTGATGCCGTGGTTGATGT	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	143	0.0285543	0.1051	0.0058	5008	,	,		10706	0.0		0.0	False		,,,				2504	0.0				p.H486H		Atlas-SNP	.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	NTRK3_ENST00000360948,NS,carcinoma,0,3	NTRK3	587	3	0			c.C1458T						PASS	.	G	,,	457,3945	216.4+/-235.1	27,403,1771	97	61	73		1458,1458,1458	-4.4	1	15	dbSNP_129	73	2,8596	3.0+/-9.4	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	,,	27,405,6068	AA,AG,GG		0.0233,10.3816,3.5308	,,	486/613,486/840,486/826	88576215	459,12541	2201	4299	6500	SO:0001819	synonymous_variant	4916	exon14			GATGCCGTGGTTG	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1458C>T	15.37:g.88576215G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	47	0.484536	NM_001012338	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																			G|0.962;A|0.038	0.038	strong		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88576215	G	A	88576215	2	1	22	1	0	0	0	0	0	0	0	1	10708	1136	40	1		1	NTRK3	15	88576215	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1635542	88576215	13955177	7891	12999										
NTRK3	4916	hgsc.bcm.edu	37	chr15	88680684	88680684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagctgggagccatcagcGttgatgcagtagaggttctg	16	7	2	2	rs1128994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:88680684G>A	ENST00000360948.2	-	6	734	c.573C>T	c.(571-573)aaC>aaT	p.N191N	NTRK3_ENST00000558676.1_Silent_p.N191N|NTRK3_ENST00000540489.2_Silent_p.N191N|NTRK3_ENST00000394480.2_Silent_p.N191N|NTRK3_ENST00000357724.2_Silent_p.N191N|NTRK3_ENST00000542733.2_Silent_p.N93N|NTRK3_ENST00000557856.1_Silent_p.N191N|NTRK3_ENST00000317501.3_Silent_p.N191N|NTRK3_ENST00000355254.2_Silent_p.N191N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	191	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCATCAGCGTTGATGCAGT	0.587			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1356	0.270767	0.3555	0.2046	5008	,	,		19398	0.2222		0.2624	False		,,,				2504	0.2618				p.N191N		Atlas-SNP	.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	.	NTRK3	587	.	0			c.C573T						PASS	.	G	,,	1624,2778	498.8+/-364.2	300,1024,877	141	105	117		573,573,573	-2.5	0	15	dbSNP_86	117	2317,6281	390.4+/-343.3	295,1727,2277	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	,,	595,2751,3154	AA,AG,GG		26.9481,36.8923,30.3154	,,	191/613,191/840,191/826	88680684	3941,9059	2201	4299	6500	SO:0001819	synonymous_variant	4916	exon7			ATCAGCGTTGATG	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.573C>T	15.37:g.88680684G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_001243101	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																			G|0.705;A|0.295	0.295	strong		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88680684	G	A	88680684	2	1	22	1	0	0	0	0	0	0	0	1	10708	1136	40	1		1	NTRK3	15	88680684	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	104469	88680684	13850708	7892	13000										
MRPL46	26589	hgsc.bcm.edu	37	chr15	89002888	89002888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttgggccaggtattttgGtttcaaatagtcacccagct	9	9	2	0	rs146290179		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89002888G>T	ENST00000312475.4	-	4	837	c.796C>A	c.(796-798)Cca>Aca	p.P266T	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	266						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGTATTTTGGTTTCAAATAG	0.502																																					p.P266T		Atlas-SNP	.											.	MRPL46	13	.	0			c.C796A						PASS	.	G	THR/PRO	2,4400	4.2+/-10.8	0,2,2199	119	101	107		796	6	0.5	15	dbSNP_134	107	0,8598		0,0,4299	no	missense	MRPL46	NM_022163.3	38	0,2,6498	TT,TG,GG		0.0,0.0454,0.0154	possibly-damaging	266/280	89002888	2,12998	2201	4299	6500	SO:0001583	missense	26589	exon4			ATTTTGGTTTCAA	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.796C>A	15.37:g.89002888G>T	ENSP00000312311:p.Pro266Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	122	53	0.434426	NM_022163	B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278489	0.59758	4.54E-4	0.0	ENSG00000173867	ENST00000312475	T	0.48201	0.82	5.98	5.98	0.97165	.	0.102208	0.64402	D	0.000002	T	0.47967	0.1474	M	0.62154	1.92	0.58432	D	0.999993	P	0.51653	0.947	B	0.43916	0.436	T	0.44697	-0.9311	10	0.36615	T	0.2	.	12.628	0.56640	0.0824:0.0:0.9176:0.0	.	266	Q9H2W6	RM46_HUMAN	T	266	ENSP00000312311:P266T	ENSP00000312311:P266T	P	-	1	0	MRPL46	86803892	1.000000	0.71417	0.508000	0.27688	0.542000	0.35054	4.395000	0.59678	2.835000	0.97688	0.650000	0.86243	CCA	G|1.000;T|0.000	0.000	weak		0.502	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		T	89002888	G	T	89002888	3	4	22	1	0	0	0	0	1	0	0	0	9810	1261	44	4	47	4	MRPL46	15	89002888	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	322204	89002888	13528504	7893	13001										
MRPL46	26589	hgsc.bcm.edu	37	chr15	89008072	89008072	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggttcctgtctagcttccTgttcagggatgttcggtcat	11	9	3	0	rs16941885	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89008072T>G	ENST00000312475.4	-	3	492	c.451A>C	c.(451-453)Agg>Cgg	p.R151R	MRPS11_ENST00000325844.4_5'Flank|MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000353598.6_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCTAGCTTCCTGTTCAGGGAT	0.512													G|||	378	0.0754792	0.2587	0.0173	5008	,	,		17989	0.006		0.001	False		,,,				2504	0.0174				p.R151R		Atlas-SNP	.											.	MRPL46	13	.	0			c.A451C						PASS	.	G		1001,3401	729.1+/-410.0	124,753,1324	135	132	133		451	1.4	1	15	dbSNP_123	133	8,8590	818.9+/-406.8	0,8,4291	yes	coding-synonymous	MRPL46	NM_022163.3		124,761,5615	GG,GT,TT		0.093,22.7397,7.7615		151/280	89008072	1009,11991	2201	4299	6500	SO:0001819	synonymous_variant	26589	exon3			GCTTCCTGTTCAG	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.451A>C	15.37:g.89008072T>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	146	73	0.5	NM_022163	B2RD75|Q9HBU8	Silent	SNP	ENST00000312475.4	37	CCDS10341.1																																																																																			T|0.925;G|0.075	0.075	strong		0.512	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		G	89008072	T	G	89008072	2	3	22	1	0	0	0	0	0	0	0	1	9810	1579	55	5		5	MRPL46	15	89008072	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5184	89008072	13523320	7894	13002										
MRPS11	64963	hgsc.bcm.edu	37	chr15	89010976	89010976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgagaaacgcggggtcgCggttcctgcggtcctggact	16	11	0	1	rs16941904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89010976C>T	ENST00000325844.4	+	1	293	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MRPL46_ENST00000312475.4_5'Flank|MRPS11_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Missense_Mutation_p.R10W|MRPL46_ENST00000559538.1_5'Flank	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	10			R -> W (in dbSNP:rs16941904).		DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGCGGGGTCGCGGTTCCTGCG	0.627													T|||	389	0.0776757	0.2663	0.0187	5008	,	,		15222	0.006		0.001	False		,,,				2504	0.0174				p.R10W		Atlas-SNP	.											.	MRPS11	14	.	0			c.C28T						PASS	.	T	TRP/ARG,TRP/ARG	1023,3379	726.5+/-409.7	129,765,1307	57	59	58		28,28	0.1	0	15	dbSNP_123	58	8,8590	818.7+/-406.8	0,8,4291	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	129,773,5598	TT,TC,CC		0.093,23.2394,7.9308	benign,benign	10/195,10/162	89010976	1031,11969	2201	4299	6500	SO:0001583	missense	64963	exon1			GGGTCGCGGTTCC	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.28C>T	15.37:g.89010976C>T	ENSP00000317376:p.Arg10Trp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	118	69	0.584746	NM_176805	B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	CCDS10342.1	129	0.059065934065934064	120	0.24390243902439024	7	0.019337016574585635	2	0.0034965034965034965	0	0.0	T	11.34	1.611080	0.28712	0.232394	9.3E-4	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.32023	1.47;1.59	4.87	0.116	0.14647	.	0.702183	0.13884	N	0.356082	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41610	-0.9499	9	0.02654	T	1	5.0E-4	9.0595	0.36425	0.0:0.5518:0.0:0.4482	rs16941904;rs61652389	10;10;10	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	10	ENSP00000317376:R10W;ENSP00000318054:R10W	ENSP00000317376:R10W	R	+	1	2	MRPS11	86811980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.789000	0.04609	-0.101000	0.12219	-0.254000	0.11334	CGG	C|0.929;T|0.071	0.071	strong		0.627	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		T	89010976	C	T	89010976	3	4	22	1	0	0	0	0	1	0	0	0	9822	759	27	1	30	1	MRPS11	15	89010976	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2904	89010976	13520416	7895	13003										
MRPS11	64963	hgsc.bcm.edu	37	chr15	89011226	89011226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaagcagaaagttgaacaGaacgcggctcccagccacac	10	14	0	3	rs16941907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89011226G>C	ENST00000325844.4	+	2	418	c.153G>C	c.(151-153)caG>caC	p.Q51H	MRPL46_ENST00000312475.4_5'Flank|MRPS11_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Missense_Mutation_p.Q51H	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	51			Q -> H (in dbSNP:rs16941907).		DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AAGTTGAACAGAACGCGGCTC	0.632													G|||	111	0.0221645	0.0658	0.0014	5008	,	,		16046	0.006		0.0	False		,,,				2504	0.0174				p.Q51H		Atlas-SNP	.											.	MRPS11	14	.	0			c.G153C						PASS	.	G	HIS/GLN,HIS/GLN	311,4085		17,277,1904	26	25	26		153,153	3.3	0	15	dbSNP_123	26	7,8589		0,7,4291	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	24,24	17,284,6195	CC,CG,GG		0.0814,7.0746,2.4477	benign,benign	51/195,51/162	89011226	318,12674	2198	4298	6496	SO:0001583	missense	64963	exon2			TGAACAGAACGCG	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.153G>C	15.37:g.89011226G>C	ENSP00000317376:p.Gln51His	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	173	79	0.456647	NM_176805	B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	CCDS10342.1	36	0.016483516483516484	33	0.06707317073170732	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	13.70	2.314655	0.40996	0.070746	8.14E-4	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.31510	1.49;1.51	4.25	3.33	0.38152	.	1.112800	0.06892	N	0.804449	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26935	0.164;0.071;0.102	B;B;B	0.30401	0.115;0.06;0.054	T	0.20371	-1.0277	10	0.72032	D	0.01	-0.1994	8.3162	0.32102	0.1088:0.0:0.8912:0.0	rs16941907;rs16941907	50;51;51	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	H	51	ENSP00000317376:Q51H;ENSP00000318054:Q51H	ENSP00000317376:Q51H	Q	+	3	2	MRPS11	86812230	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	1.495000	0.35627	1.131000	0.42111	0.655000	0.94253	CAG	G|0.980;C|0.020	0.020	strong		0.632	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		C	89011226	G	C	89011226	3	2	22	1	0	0	0	0	1	0	0	0	9822	933	33	4	159	4	MRPS11	15	89011226	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	250	89011226	13520166	7896	13004										
MRPS11	64963	hgsc.bcm.edu	37	chr15	89015930	89015930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatttgaggagatcccaatTgcacacattaaagcatccca	6	10	0	2	rs9920196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89015930T>C	ENST00000325844.4	+	3	520	c.255T>C	c.(253-255)atT>atC	p.I85I	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	85					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGATCCCAATTGCACACATTA	0.458													C|||	389	0.0776757	0.2663	0.0187	5008	,	,		19889	0.006		0.001	False		,,,				2504	0.0174				p.I85I		Atlas-SNP	.											.	MRPS11	14	.	0			c.T255C						PASS	.	C	,	1023,3379	726.8+/-409.8	129,765,1307	59	58	58		255,	-5	0.8	15	dbSNP_119	58	8,8590	818.9+/-406.8	0,8,4291	no	coding-synonymous,intron	MRPS11	NM_022839.3,NM_176805.2	,	129,773,5598	CC,CT,TT		0.093,23.2394,7.9308	,	85/195,	89015930	1031,11969	2201	4299	6500	SO:0001819	synonymous_variant	64963	exon3			CCCAATTGCACAC	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.255T>C	15.37:g.89015930T>C		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	201	100	0.497512	NM_022839	B2RD52|Q969D7|Q96GI3|Q9BYC3	Silent	SNP	ENST00000325844.4	37	CCDS10342.1																																																																																			T|0.922;C|0.078	0.078	strong		0.458	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		C	89015930	T	C	89015930	2	2	22	1	0	0	0	0	0	0	0	1	9822	1800	63	2		2	MRPS11	15	89015930	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4704	89015930	13515462	7897	13005										
ACAN	176	hgsc.bcm.edu	37	chr15	89401825	89401825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccaccaggtactccataTtttagtggggattttgccag	11	9	0	0	rs35676128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89401825T>C	ENST00000561243.1	+	11	6009	c.6009T>C	c.(6007-6009)taT>taC	p.Y2003Y	ACAN_ENST00000439576.2_Silent_p.Y2003Y|ACAN_ENST00000352105.7_Silent_p.Y2003Y|ACAN_ENST00000559004.1_Silent_p.Y2003Y			P16112	PGCA_HUMAN	aggrecan	2013	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTACTCCATATTTTAGTGGGG	0.532													T|||	127	0.0253594	0.0507	0.0274	5008	,	,		18222	0.0347		0.002	False		,,,				2504	0.0041				p.Y2003Y		Atlas-SNP	.											.	ACAN	220	.	0			c.T6009C						PASS	.	T	,	136,3582		3,130,1726	47	47	47		6009,6009	2.8	0.9	15	dbSNP_126	47	12,8188		0,12,4088	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	3,142,5814	CC,CT,TT		0.1463,3.6579,1.2418	,	2003/2432,2003/2531	89401825	148,11770	1859	4100	5959	SO:0001819	synonymous_variant	176	exon12			TCCATATTTTAGT	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6009T>C	15.37:g.89401825T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	53	31	0.584906	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																			T|0.985;C|0.015	0.015	strong		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		C	89401825	T	C	89401825	2	2	22	1	0	0	0	0	0	0	0	1	117	1500	52	2		2	ACAN	15	89401825	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	385895	89401825	13129567	7898	13006										
ACAN	176	hgsc.bcm.edu	37	chr15	89417238	89417238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggcactgggaggagcctcAgatcacctgcacagaccgtg	14	13	2	2	rs1126823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89417238A>G	ENST00000561243.1	+	16	7499	c.7499A>G	c.(7498-7500)cAg>cGg	p.Q2500R	ACAN_ENST00000439576.2_Missense_Mutation_p.Q2500R|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2462R|ACAN_ENST00000352105.7_Intron			P16112	PGCA_HUMAN	aggrecan	2385					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGAGCCTCAGATCACCTGC	0.642													G|||	2037	0.406749	0.7557	0.2939	5008	,	,		17716	0.2639		0.2366	False		,,,				2504	0.3374				p.Q2500R		Atlas-SNP	.											.	ACAN	220	.	0			c.A7499G						PASS	.	G	,ARG/GLN	2941,1391		1018,905,243	37	46	43		,7499	2.9	1	15	dbSNP_86	43	2138,6378		265,1608,2385	yes	intron,missense	ACAN	NM_001135.3,NM_013227.3	,43	1283,2513,2628	GG,GA,AA		25.1057,32.1099,39.5314	,benign	,2500/2531	89417238	5079,7769	2166	4258	6424	SO:0001583	missense	176	exon17			AGCCTCAGATCAC	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7499A>G	15.37:g.89417238A>G	ENSP00000453342:p.Gln2500Arg	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_013227	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	778	0.35622710622710624	355	0.7215447154471545	116	0.32044198895027626	142	0.24825174825174826	165	0.21767810026385223	G	3.690	-0.063804	0.07273	0.678901	0.251057	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.65178	-0.14	5.17	2.92	0.33932	.	0.000000	0.29752	N	0.011285	T	0.00012	0.0000	.	.	.	0.49582	P	1.9299999999999873E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.43621	-0.9380	8	0.02654	T	1	-7.0478	11.1267	0.48322	0.2384:0.0:0.7616:0.0	rs1126823;rs2280467;rs3182090;rs17415701;rs52823483;rs56687304;rs1126823	2500	E7EX88	.	R	2500;2386	ENSP00000387356:Q2500R	ENSP00000268134:Q2386R	Q	+	2	0	ACAN	87218242	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	1.990000	0.40717	0.591000	0.29711	-0.119000	0.15052	CAG	A|0.613;G|0.387	0.387	strong		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		G	89417238	A	G	89417238	3	3	22	1	0	0	0	0	1	0	0	0	117	188	7	3	7561	3	ACAN	15	89417238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15413	89417238	13114154	7899	13007										
HAPLN3	145864	hgsc.bcm.edu	37	chr15	89421327	89421327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacagggtagcggacgctAccatctgccagccagccagc	11	16	1	0	rs2280463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89421327A>G	ENST00000359595.3	-	5	1171	c.957T>C	c.(955-957)ggT>ggC	p.G319G	HAPLN3_ENST00000562889.1_Silent_p.G381G	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	319	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AGCGGACGCTACCATCTGCCA	0.647													G|||	2193	0.437899	0.8139	0.3228	5008	,	,		14462	0.256		0.2932	False		,,,				2504	0.3476				p.G319G		Atlas-SNP	.											.	HAPLN3	43	.	0			c.T957C						PASS	.	G		3289,1111	398.5+/-330.9	1243,803,154	94	93	93		957	2.5	1	15	dbSNP_100	93	2665,5933	684.5+/-404.0	393,1879,2027	no	coding-synonymous	HAPLN3	NM_178232.2		1636,2682,2181	GG,GA,AA		30.9956,25.25,45.807		319/361	89421327	5954,7044	2200	4299	6499	SO:0001819	synonymous_variant	145864	exon5			GACGCTACCATCT	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.957T>C	15.37:g.89421327A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_178232	A8K7P0	Silent	SNP	ENST00000359595.3	37	CCDS10346.1																																																																																			A|0.561;G|0.439	0.439	strong		0.647	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		G	89421327	A	G	89421327	2	3	22	1	0	0	0	0	0	0	0	1	6956	378	14	2		2	HAPLN3	15	89421327	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4089	89421327	13110065	7900	13008										
MFGE8	4240	hgsc.bcm.edu	37	chr15	89450003	89450003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacccacatcctccgcagcaGgttcacctggacacagggca	9	16	1	0	rs2271714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89450003G>A	ENST00000566497.1	-	4	455	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	MFGE8_ENST00000542878.1_Silent_p.L88L|MFGE8_ENST00000268150.8_Silent_p.L132L|MFGE8_ENST00000539437.1_Silent_p.L124L|MFGE8_ENST00000268151.7_Silent_p.L132L|MFGE8_ENST00000559997.1_5'UTR			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	132	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.L132L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTCCGCAGCAGGTTCACCTGG	0.587													G|||	1047	0.209065	0.4002	0.1787	5008	,	,		18372	0.2798		0.0398	False		,,,				2504	0.0736				p.L132L		Atlas-SNP	.											MFGE8,NS,carcinoma,0,1	MFGE8	60	1	1	Substitution - coding silent(1)	stomach(1)	c.C394T						PASS	.	G	,	1517,2883	481.0+/-359.0	264,989,947	95	76	83		394,394	4.1	1	15	dbSNP_100	83	357,8241	119.2+/-178.6	9,339,3951	no	coding-synonymous,coding-synonymous	MFGE8	NM_001114614.1,NM_005928.2	,	273,1328,4898	AA,AG,GG		4.1521,34.4773,14.4176	,	132/336,132/388	89450003	1874,11124	2200	4299	6499	SO:0001819	synonymous_variant	4240	exon4			GCAGCAGGTTCAC	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.394C>T	15.37:g.89450003G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	114	65	0.570175	NM_001114614	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																			G|0.826;A|0.174	0.174	strong		0.587	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		A	89450003	G	A	89450003	2	1	22	1	0	0	0	0	0	0	0	1	9520	991	35	2		2	MFGE8	15	89450003	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28676	89450003	13081389	7901	13009										
ABHD2	11057	hgsc.bcm.edu	37	chr15	89738475	89738475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagaaacgagagaacgtcAtgtttgtgctgcctctgcat	11	9	2	2	rs147106119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89738475A>C	ENST00000352732.5	+	11	1619	c.1099A>C	c.(1099-1101)Atg>Ctg	p.M367L	ABHD2_ENST00000355100.3_Missense_Mutation_p.M367L|ABHD2_ENST00000565973.1_Missense_Mutation_p.M367L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	367					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGAACGTCATGTTTGTGCT	0.557													A|||	5	0.000998403	0.0038	0.0	5008	,	,		20328	0.0		0.0	False		,,,				2504	0.0				p.M367L	Colon(11;252 417 24570 33239 41878)	Atlas-SNP	.											.	ABHD2	55	.	0			c.A1099C						PASS	.	A	LEU/MET,LEU/MET	16,4384	23.3+/-48.9	0,16,2184	142	124	130		1099,1099	4.6	1	15	dbSNP_134	130	0,8598		0,0,4299	yes	missense,missense	ABHD2	NM_007011.7,NM_152924.4	15,15	0,16,6483	CC,CA,AA		0.0,0.3636,0.1231	benign,benign	367/426,367/426	89738475	16,12982	2200	4299	6499	SO:0001583	missense	11057	exon15			AACGTCATGTTTG	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1099A>C	15.37:g.89738475A>C	ENSP00000268129:p.Met367Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	55	0.478261	NM_007011	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	5.968	0.362642	0.11296	0.003636	0.0	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.60299	0.2;0.2	5.75	4.6	0.57074	Alpha/beta hydrolase fold-1 (1);	0.166180	0.64402	D	0.000008	T	0.34019	0.0883	N	0.16307	0.4	0.41422	D	0.987801	B	0.10296	0.003	B	0.15052	0.012	T	0.10847	-1.0612	10	0.08179	T	0.78	-14.589	6.6357	0.22881	0.7918:0.0:0.0709:0.1373	.	367	P08910	ABHD2_HUMAN	L	367	ENSP00000268129:M367L;ENSP00000347217:M367L	ENSP00000268129:M367L	M	+	1	0	ABHD2	87539479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	0.974000	0.38366	0.533000	0.62120	ATG	A|0.999;C|0.001	0.001	strong		0.557	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			C	89738475	A	C	89738475	3	2	22	1	0	0	0	0	1	0	0	0	82	217	8	5	1133	5	ABHD2	15	89738475	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	288472	89738475	12792917	7902	13010										
RLBP1	6017	hgsc.bcm.edu	37	chr15	89762198	89762198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggacagggtacttaccccTtctgacatgttgcctatgga	11	10	1	1	rs146844731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89762198T>G	ENST00000268125.5	-	3	448	c.9A>C	c.(7-9)gaA>gaC	p.E3D		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	3					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TACTTACCCCTTCTGACATGT	0.542													T|||	10	0.00199681	0.0076	0.0	5008	,	,		19219	0.0		0.0	False		,,,				2504	0.0				p.E3D		Atlas-SNP	.											RLBP1,NS,carcinoma,-2,1	RLBP1	34	1	0			c.A9C						PASS	.	T	ASP/GLU	26,4374	32.6+/-62.9	0,26,2174	146	125	132		9	-3.2	1	15	dbSNP_134	132	0,8598		0,0,4299	yes	missense	RLBP1	NM_000326.4	45	0,26,6473	GG,GT,TT		0.0,0.5909,0.2	benign	3/318	89762198	26,12972	2200	4299	6499	SO:0001583	missense	6017	exon3			TACCCCTTCTGAC	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.9A>C	15.37:g.89762198T>G	ENSP00000268125:p.Glu3Asp	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	38	0.603175	NM_000326	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	9.490	1.100449	0.20552	0.005909	0.0	ENSG00000140522	ENST00000268125	T	0.79141	-1.24	5.17	-3.21	0.05140	.	0.467603	0.23298	N	0.049703	T	0.42359	0.1199	N	0.14661	0.345	0.26969	N	0.965636	B	0.02656	0.0	B	0.01281	0.0	T	0.30001	-0.9993	10	0.16420	T	0.52	-10.8678	5.1979	0.15249	0.0:0.2661:0.2778:0.4561	.	3	P12271	RLBP1_HUMAN	D	3	ENSP00000268125:E3D	ENSP00000268125:E3D	E	-	3	2	RLBP1	87563202	0.925000	0.31364	0.968000	0.41197	0.138000	0.21146	-0.148000	0.10219	-0.417000	0.07461	-1.276000	0.01395	GAA	T|0.998;G|0.002	0.002	strong		0.542	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		G	89762198	T	G	89762198	3	3	22	1	0	0	0	0	1	0	0	0	13388	1606	56	5	972	5	RLBP1	15	89762198	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23723	89762198	12769194	7903	13011										
FANCI	55215	hgsc.bcm.edu	37	chr15	89849413	89849413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtacaccacacttacagcCcttgtcagatatgtgagtat	7	10	1	2	rs114810692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:89849413C>A	ENST00000310775.7	+	32	3611	c.3525C>A	c.(3523-3525)gcC>gcA	p.A1175A	FANCI_ENST00000300027.8_Silent_p.A1115A	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1175					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CACTTACAGCCCTTGTCAGAT	0.512								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	33	0.00658946	0.0242	0.0014	5008	,	,		19687	0.0		0.0	False		,,,				2504	0.0				p.A1175A		Atlas-SNP	.											.	FANCI	129	.	0			c.C3525A						PASS	.	C	,	75,4325	66.4+/-103.9	0,75,2125	109	96	100		3525,3345	-10.8	0.6	15	dbSNP_132	100	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	FANCI	NM_001113378.1,NM_018193.2	,	0,76,6423	AA,AC,CC		0.0116,1.7045,0.5847	,	1175/1329,1115/1269	89849413	76,12922	2200	4299	6499	SO:0001819	synonymous_variant	55215	exon32	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TACAGCCCTTGTC	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3525C>A	15.37:g.89849413C>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_001113378	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	CCDS45346.1																																																																																			C|0.994;A|0.006	0.006	strong		0.512	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		A	89849413	C	A	89849413	2	1	22	1	0	0	0	0	0	0	0	1	5669	610	22	4		4	FANCI	15	89849413	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87215	89849413	12681979	7904	13012										
C15orf42	90381	hgsc.bcm.edu	37	chr15	90145118	90145118	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccacttctttctgtgccTtttttgtcaagtgctcgtag	7	11	4	0	rs202042800		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90145118T>A	ENST00000268138.7	+	12	2583	c.2478T>A	c.(2476-2478)ccT>ccA	p.P826P	TICRR_ENST00000560985.1_Silent_p.P825P			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	826					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTTCTGTGCCTTTTTTGTCAA	0.458													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0				p.P826P		Atlas-SNP	.											.	.	.	.	0			c.T2478A						PASS	.	T		5,3841		0,5,1918	137	125	129		2478	0.3	0.1	15		129	0,8276		0,0,4138	no	coding-synonymous	C15orf42	NM_152259.3		0,5,6056	AA,AT,TT		0.0,0.13,0.0412		826/1911	90145118	5,12117	1923	4138	6061	SO:0001819	synonymous_variant	90381	exon12			TGTGCCTTTTTTG	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2478T>A	15.37:g.90145118T>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																			T|1.000;A|0.000	0.000	strong		0.458	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90145118	T	A	90145118	2	1	22	1	0	0	0	0	0	0	0	1	1796	1596	56	5		5	C15orf42	15	90145118	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	295705	90145118	12386274	7905	13013										
C15orf42	90381	hgsc.bcm.edu	37	chr15	90164769	90164769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actttggattcggaggtaccTgcagcttaccaggtataatg	11	8	0	0	rs75934760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90164769T>C	ENST00000268138.7	+	19	3405	c.3300T>C	c.(3298-3300)ccT>ccC	p.P1100P	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.P1099P			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1100					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CGGAGGTACCTGCAGCTTACC	0.428													T|||	221	0.0441294	0.1558	0.0216	5008	,	,		19124	0.0		0.0	False		,,,				2504	0.0				p.P1100P		Atlas-SNP	.											.	.	.	.	0			c.T3300C						PASS	.	T		445,3261		33,379,1441	55	54	54		3300	1.5	0	15	dbSNP_132	54	6,8188		0,6,4091	no	coding-synonymous	C15orf42	NM_152259.3		33,385,5532	CC,CT,TT		0.0732,12.0076,3.7899		1100/1911	90164769	451,11449	1853	4097	5950	SO:0001819	synonymous_variant	90381	exon19			GGTACCTGCAGCT	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3300T>C	15.37:g.90164769T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	55	26	0.472727	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																			T|0.973;C|0.027	0.027	strong		0.428	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		C	90164769	T	C	90164769	2	2	22	1	0	0	0	0	0	0	0	1	1796	1567	55	3		3	C15orf42	15	90164769	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19651	90164769	12366623	7906	13014										
C15orf42	90381	hgsc.bcm.edu	37	chr15	90167610	90167610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcatctctctcctgccctGttccctcaactccccctgaa	4	20	3	1	rs115865608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90167610G>T	ENST00000268138.7	+	20	4174	c.4069G>T	c.(4069-4071)Gtt>Ttt	p.V1357F	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.V1356F			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1357	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTCCTGCCCTGTTCCCTCAAC	0.517													G|||	15	0.00299521	0.0098	0.0029	5008	,	,		20300	0.0		0.0	False		,,,				2504	0.0				p.V1357F		Atlas-SNP	.											.	.	.	.	0			c.G4069T						PASS	.	G	PHE/VAL	47,4353	48.9+/-83.8	1,45,2154	129	129	129		4069	0.1	0	15	dbSNP_132	129	0,8598		0,0,4299	yes	missense	C15orf42	NM_152259.3	50	1,45,6453	TT,TG,GG		0.0,1.0682,0.3616	possibly-damaging	1357/1911	90167610	47,12951	2200	4299	6499	SO:0001583	missense	90381	exon20			TGCCCTGTTCCCT	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4069G>T	15.37:g.90167610G>T	ENSP00000268138:p.Val1357Phe	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	60	34	0.566667	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	8.278	0.814810	0.16607	0.010682	0.0	ENSG00000140534	ENST00000268138	T	0.08984	3.03	4.59	0.12	0.14691	.	1.919780	0.02660	N	0.107408	T	0.09598	0.0236	L	0.50333	1.59	0.09310	N	1	P	0.43701	0.815	P	0.46389	0.515	T	0.26883	-1.0090	10	0.40728	T	0.16	0.4344	7.2402	0.26092	0.2249:0.1216:0.6535:0.0	.	1357	Q7Z2Z1	TICRR_HUMAN	F	1357	ENSP00000268138:V1357F	ENSP00000268138:V1357F	V	+	1	0	C15orf42	87968614	0.003000	0.15002	0.002000	0.10522	0.216000	0.24613	0.321000	0.19558	0.118000	0.18165	-0.140000	0.14226	GTT	G|0.996;T|0.004	0.004	strong		0.517	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90167610	G	T	90167610	3	4	22	1	0	0	0	0	1	0	0	0	1796	1377	48	4	4147	4	C15orf42	15	90167610	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2841	90167610	12363782	7907	13015										
KIF7	374654	hgsc.bcm.edu	37	chr15	90192363	90192363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttgagcaccctctctgaGcccgccaggtccacgaagtg	11	15	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90192363G>A	ENST00000394412.3	-	4	841	c.765C>T	c.(763-765)ggC>ggT	p.G255G		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	255	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCTCTCTGAGCCCGCCAGGT	0.711																																					p.G255G		Atlas-SNP	.											.	KIF7	130	.	0			c.C765T						PASS	.						9	13	12					15																	90192363		684	1585	2269	SO:0001819	synonymous_variant	374654	exon4			CTCTGAGCCCGCC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.765C>T	15.37:g.90192363G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	57	32	0.561404	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	CCDS32325.2																																																																																			.	.	none		0.711	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90192363	G	A	90192363	2	1	22	1	0	0	0	0	0	0	0	1	8309	958	34	2		2	KIF7	15	90192363	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24753	90192363	12339029	7908	13016										
KIF7	374654	hgsc.bcm.edu	37	chr15	90196113	90196113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgaactcgcagggcaacccGcactggggcctcctcagccc	11	18	1	0	rs141865394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90196113G>A	ENST00000394412.3	-	2	125	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGGCAACCCGCACTGGGGCC	0.687													G|||	26	0.00519169	0.0174	0.0029	5008	,	,		15541	0.001		0.0	False		,,,				2504	0.0				p.R17W		Atlas-SNP	.											.	KIF7	130	.	0			c.C49T						PASS	.						12	17	16					15																	90196113		688	1589	2277	SO:0001583	missense	374654	exon2			CAACCCGCACTGG	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.49C>T	15.37:g.90196113G>A	ENSP00000377934:p.Arg17Trp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	13	0.005952380952380952	10	0.02032520325203252	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	12.35	1.912773	0.33721	.	.	ENSG00000166813	ENST00000394412	T	0.74526	-0.85	4.66	2.23	0.28157	Kinesin, motor domain (3);	.	.	.	.	T	0.80597	0.4653	H	0.96048	3.76	0.35264	D	0.779872	D	0.76494	0.999	P	0.59424	0.857	D	0.89286	0.3615	9	0.87932	D	0	.	12.8485	0.57844	0.0:0.0:0.5816:0.4184	.	17	Q2M1P5	KIF7_HUMAN	W	17	ENSP00000377934:R17W	ENSP00000377934:R17W	R	-	1	2	KIF7	87997117	0.008000	0.16893	0.921000	0.36526	0.005000	0.04900	0.750000	0.26334	0.144000	0.18951	-0.262000	0.10625	CGG	G|0.994;A|0.006	0.006	strong		0.687	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90196113	G	A	90196113	3	1	22	1	0	0	0	0	1	0	0	0	8309	1086	38	1	4054	1	KIF7	15	90196113	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3750	90196113	12335279	7909	13017										
WDR93	56964	hgsc.bcm.edu	37	chr15	90274756	90274756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctacctggtgctggcctgCgaggatggtgtgctcacgct	14	12	1	0	rs35502270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90274756C>T	ENST00000268130.7	+	12	1394	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	WDR93_ENST00000444934.2_Silent_p.C148C|WDR93_ENST00000560294.1_Silent_p.C431C	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	431					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCTGGCCTGCGAGGATGGTG	0.617													C|||	134	0.0267572	0.0998	0.0029	5008	,	,		18890	0.0		0.0	False		,,,				2504	0.0				p.C431C		Atlas-SNP	.											.	WDR93	63	.	0			c.C1293T						PASS	.	C		363,4037	184.7+/-212.0	14,335,1851	208	181	190		1293	-4.6	0.9	15	dbSNP_126	190	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	WDR93	NM_020212.1		14,338,6147	TT,TC,CC		0.0349,8.25,2.8158		431/687	90274756	366,12632	2200	4299	6499	SO:0001819	synonymous_variant	56964	exon12			GGCCTGCGAGGAT		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1293C>T	15.37:g.90274756C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	147	72	0.489796	NM_020212	Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	CCDS32326.1																																																																																			C|0.973;T|0.027	0.027	strong		0.617	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		T	90274756	C	T	90274756	2	4	22	1	0	0	0	0	0	0	0	1	17337	776	27	1		1	WDR93	15	90274756	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78643	90274756	12256636	7910	13018										
WDR93	56964	hgsc.bcm.edu	37	chr15	90281381	90281381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaatatctcaaaaaattgTaccattcctcaaagggactt	5	8	2	0	rs35017767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90281381T>C	ENST00000268130.7	+	16	1976	c.1875T>C	c.(1873-1875)tgT>tgC	p.C625C	WDR93_ENST00000560294.1_Silent_p.C597C|WDR93_ENST00000444934.2_Silent_p.C342C	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	625					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAAAAAATTGTACCATTCCTC	0.453													C|||	235	0.0469249	0.1755	0.0043	5008	,	,		17775	0.0		0.0	False		,,,				2504	0.0				p.C625C		Atlas-SNP	.											.	WDR93	63	.	0			c.T1875C						PASS	.	C		662,3738	763.7+/-413.2	44,574,1582	232	238	236		1875	-1.2	0	15	dbSNP_126	236	6,8592	818.8+/-406.8	0,6,4293	no	coding-synonymous	WDR93	NM_020212.1		44,580,5875	CC,CT,TT		0.0698,15.0455,5.1393		625/687	90281381	668,12330	2200	4299	6499	SO:0001819	synonymous_variant	56964	exon16			AAATTGTACCATT		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1875T>C	15.37:g.90281381T>C		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	153	90	0.588235	NM_020212	Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	CCDS32326.1																																																																																			T|0.955;C|0.045	0.045	strong		0.453	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		C	90281381	T	C	90281381	2	2	22	1	0	0	0	0	0	0	0	1	17337	1644	57	2		2	WDR93	15	90281381	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6625	90281381	12250011	7911	13019										
WDR93	56964	hgsc.bcm.edu	37	chr15	90281452	90281452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggagaagagatgtgagcGtttcctccagaagaggtaaa	13	6	0	5	rs35389334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90281452G>A	ENST00000268130.7	+	16	2047	c.1946G>A	c.(1945-1947)cGt>cAt	p.R649H	WDR93_ENST00000560294.1_Missense_Mutation_p.R621H|WDR93_ENST00000444934.2_Missense_Mutation_p.R366H	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	649					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGATGTGAGCGTTTCCTCCAG	0.473													G|||	102	0.0203674	0.0756	0.0029	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0				p.R649H		Atlas-SNP	.											WDR93,colon,carcinoma,+1,1	WDR93	63	1	0			c.G1946A						PASS	.	G	HIS/ARG	251,4149	143.8+/-178.8	7,237,1956	165	167	166		1946	-10.5	0	15	dbSNP_126	166	2,8596	2.2+/-6.3	0,2,4297	yes	missense	WDR93	NM_020212.1	29	7,239,6253	AA,AG,GG		0.0233,5.7045,1.9465	possibly-damaging	649/687	90281452	253,12745	2200	4299	6499	SO:0001583	missense	56964	exon16			GTGAGCGTTTCCT		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1946G>A	15.37:g.90281452G>A	ENSP00000268130:p.Arg649His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	130	72	0.553846	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	52	0.023809523809523808	50	0.1016260162601626	2	0.0055248618784530384	0	0.0	0	0.0	G	11.54	1.670012	0.29693	0.057045	2.33E-4	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.43294	1.95;0.95	5.27	-10.5	0.00291	.	3.609450	0.00520	N	0.000193	T	0.00608	0.0020	N	0.22421	0.69	0.09310	N	1	P;P	0.50943	0.859;0.94	B;B	0.41571	0.276;0.36	T	0.38520	-0.9657	10	0.40728	T	0.16	3.3554	5.7049	0.17903	0.3798:0.0:0.2483:0.3718	rs35389334	621;649	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	H	649;366	ENSP00000268130:R649H;ENSP00000403871:R366H	ENSP00000268130:R649H	R	+	2	0	WDR93	88082456	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.725000	0.00808	-2.790000	0.00356	-0.156000	0.13503	CGT	G|0.977;A|0.023	0.023	strong		0.473	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		A	90281452	G	A	90281452	3	1	22	1	0	0	0	0	1	0	0	0	17337	1145	40	1	2004	1	WDR93	15	90281452	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71	90281452	12249940	7912	13020										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320000	90320000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatcggccacctatcggccGtgctgggtctcagcgaggag	14	13	1	0	rs28462216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90320000G>A	ENST00000341735.3	+	1	412	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	138			V -> M (in dbSNP:rs28462216).		mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTATCGGCCGTGCTGGGTCT	0.736													G|||	393	0.0784744	0.2572	0.0216	5008	,	,		13798	0.0		0.002	False		,,,				2504	0.0368				p.V138M		Atlas-SNP	.											.	MESP2	20	.	0			c.G412A						PASS	.	G	MET/VAL	771,3403		58,655,1374	7	9	8		412	1.8	1	15	dbSNP_125	8	5,8363		0,5,4179	no	missense	MESP2	NM_001039958.1	21	58,660,5553	AA,AG,GG		0.0598,18.4715,6.1872	benign	138/398	90320000	776,11766	2087	4184	6271	SO:0001583	missense	145873	exon1			TCGGCCGTGCTGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.412G>A	15.37:g.90320000G>A	ENSP00000342392:p.Val138Met	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_001039958	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	130	0.05952380952380952	121	0.2459349593495935	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	G	13.92	2.380200	0.42207	0.184715	5.98E-4	ENSG00000188095	ENST00000341735	D	0.88509	-2.39	3.89	1.76	0.24704	Helix-loop-helix DNA-binding (3);	.	.	.	.	T	0.00109	0.0003	L	0.55481	1.735	0.47905	P	4.5799999999995844E-4	D	0.63880	0.993	P	0.49528	0.614	T	0.00146	-1.1991	8	0.51188	T	0.08	-6.0463	11.5389	0.50655	0.0:0.6191:0.3809:0.0	rs28462216;rs60624982	138	Q0VG99	MESP2_HUMAN	M	138	ENSP00000342392:V138M	ENSP00000342392:V138M	V	+	1	0	MESP2	88121004	0.564000	0.26602	1.000000	0.80357	0.565000	0.35776	0.973000	0.29422	0.785000	0.33685	0.313000	0.20887	GTG	G|0.940;A|0.060	0.060	strong		0.736	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320000	G	A	90320000	3	1	22	1	0	0	0	0	1	0	0	0	9483	1145	40	1	414	1	MESP2	15	90320000	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38548	90320000	12211392	7913	13021										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320146	90320146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggggcaagggcaggggcaGgggcaggggcaagggcaggg	25	7	0	0	rs56192595|rs199821487|rs28546919		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90320146G>A	ENST00000341735.3	+	1	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	186	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ggcaggggcaggggcaggggc	0.781																																					p.Q186Q		Atlas-SNP	.											.	MESP2	20	.	0			c.G558A						PASS	.						2	2	2					15																	90320146		1056	2363	3419	SO:0001819	synonymous_variant	145873	exon1			GGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.558G>A	15.37:g.90320146G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			A|1.000;|0.000	1.000	weak		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320146	G	A	90320146	2	1	22	1	0	0	0	0	0	0	0	1	9483	991	35	2		2	MESP2	15	90320146	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	146	90320146	12211246	7914	13022										
SEMA4B	10509	hgsc.bcm.edu	37	chr15	90760810	90760810	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagtagcaacctcagcttCctgccaggcggggagtacca	11	14	2	0	rs74037028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90760810C>T	ENST00000411539.2	+	2	557	c.297C>T	c.(295-297)ttC>ttT	p.F99F	SEMA4B_ENST00000332496.6_Silent_p.F99F|SEMA4B_ENST00000379122.3_Silent_p.F94F	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	94	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACCTCAGCTTCCTGCCAGGCG	0.597													C|||	159	0.0317492	0.1142	0.0101	5008	,	,		19548	0.0		0.001	False		,,,				2504	0.0				p.F99F		Atlas-SNP	.											.	SEMA4B	51	.	0			c.C297T						PASS	.	C	,	336,3682		14,308,1687	57	58	58		297,297	5.6	1	15	dbSNP_130	58	16,8334		1,14,4160	no	coding-synonymous,coding-synonymous	SEMA4B	NM_020210.3,NM_198925.2	,	15,322,5847	TT,TC,CC		0.1916,8.3624,2.8461	,	99/838,99/838	90760810	352,12016	2009	4175	6184	SO:0001819	synonymous_variant	10509	exon3			CAGCTTCCTGCCA	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.297C>T	15.37:g.90760810C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_020210	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	CCDS45347.1																																																																																			C|0.977;T|0.023	0.023	strong		0.597	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		T	90760810	C	T	90760810	2	4	22	1	0	0	0	0	0	0	0	1	14032	854	30	2		2	SEMA4B	15	90760810	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	440664	90760810	11770582	7915	13023										
SEMA4B	10519	hgsc.bcm.edu	37	chr15	90771787	90771787	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagagaagaggccactcaGcatccaagacagcttcgtgg	12	11	2	3	rs16944065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90771787G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.S809N|SEMA4B_ENST00000332496.6_Missense_Mutation_p.S809N|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGGCCACTCAGCATCCAAGAC	0.652													G|||	47	0.00938498	0.0348	0.0014	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.0				p.S809N		Atlas-SNP	.											.	SEMA4B	51	.	0			c.G2426A						PASS	.	G	ASN/SER,ASN/SER	156,3862		0,156,1853	29	34	32		2426,2426	4.8	1	15	dbSNP_123	32	3,8309		0,3,4153	yes	missense,missense	SEMA4B	NM_020210.3,NM_198925.2	46,46	0,159,6006	AA,AG,GG		0.0361,3.8825,1.2895	benign,benign	809/838,809/838	90771787	159,12171	2009	4156	6165	SO:0001628	intergenic_variant	10509	exon15			CACTCAGCATCCA	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771787G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_020210	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	CCDS10360.1	45	0.020604395604395604	23	0.046747967479674794	4	0.011049723756906077	6	0.01048951048951049	12	0.0158311345646438	G	12.52	1.963517	0.34659	0.038825	3.61E-4	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.21543	2.0;2.0	4.75	4.75	0.60458	.	0.102022	0.64402	D	0.000003	T	0.01558	0.0050	N	0.11560	0.145	0.80722	D	1	B;B	0.26120	0.142;0.072	B;B	0.23018	0.043;0.031	T	0.20140	-1.0284	10	0.34782	T	0.22	.	10.5938	0.45325	0.0988:0.0:0.9012:0.0	rs16944065;rs16944065	809;804	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	N	809	ENSP00000332204:S809N;ENSP00000394720:S809N	ENSP00000332204:S809N	S	+	2	0	SEMA4B	88572791	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.820000	0.55693	2.624000	0.88883	0.561000	0.74099	AGC	G|0.979;A|0.021	0.021	strong		0.652	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			A	90771787	G	A	90771787	1	1	22	0	1	0	0	0	0	0	0	0	14032	971	34	2		2	SEMA4B	15	90771787	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10977	90771787	11759605	7916	13024										
C15orf58	390637	hgsc.bcm.edu	37	chr15	90784862	90784862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgagcccctggaccctgGaggccatttgcatctgctcc	11	15	1	0	rs75296384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90784862G>A	ENST00000558017.1	+	4	1142	c.722G>A	c.(721-723)gGa>gAa	p.G241E	GDPGP1_ENST00000329600.6_Missense_Mutation_p.G241E	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	241					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										CTGGACCCTGGAGGCCATTTG	0.617													G|||	174	0.0347444	0.1248	0.013	5008	,	,		17261	0.0		0.0	False		,,,				2504	0.0				p.G241E		Atlas-SNP	.											.	.	.	.	0			c.G722A						PASS	.	G	GLU/GLY	608,3790	264.4+/-266.0	41,526,1632	47	43	45		722	-2.9	0	15	dbSNP_131	45	9,8587	7.1+/-27.0	0,9,4289	yes	missense	C15orf58	NM_001013657.2	98	41,535,5921	AA,AG,GG		0.1047,13.8245,4.7483	benign	241/386	90784862	617,12377	2199	4298	6497	SO:0001583	missense	390637	exon4			ACCCTGGAGGCCA		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.722G>A	15.37:g.90784862G>A	ENSP00000452793:p.Gly241Glu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	50	18	0.36	NM_001013657		Missense_Mutation	SNP	ENST00000558017.1	37	CCDS32327.1	64	0.029304029304029304	57	0.11585365853658537	7	0.019337016574585635	0	0.0	0	0.0	G	0.008	-1.878262	0.00537	0.138245	0.001047	ENSG00000183208	ENST00000329600	T	0.25579	1.79	5.95	-2.86	0.05717	.	1.014510	0.07864	N	0.966806	T	0.00109	0.0003	L	0.35341	1.055	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34229	-0.9837	10	0.10902	T	0.67	0.0023	2.465	0.04550	0.4479:0.2093:0.2364:0.1065	.	241	Q6ZNW5	VTC2_HUMAN	E	241	ENSP00000368405:G241E	ENSP00000368405:G241E	G	+	2	0	C15orf58	88585866	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.507000	0.22675	-0.510000	0.06523	-0.150000	0.13652	GGA	G|0.962;A|0.038	0.038	strong		0.617	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		A	90784862	G	A	90784862	3	1	22	1	0	0	0	0	1	0	0	0	1806	1174	41	2	724	2	C15orf58	15	90784862	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13075	90784862	11746530	7917	13025										
ZNF774	342132	hgsc.bcm.edu	37	chr15	90902172	90902172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgaggcgaggaagatccCgagggaaagccacacaggtg	15	9	0	2	rs16944267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:90902172C>T	ENST00000354377.3	+	3	380	c.194C>T	c.(193-195)cCg>cTg	p.P65L	ZNF774_ENST00000379090.5_Missense_Mutation_p.P65L|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	65			P -> L (in dbSNP:rs16944267).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGAAGATCCCGAGGGAAAGC	0.488													T|||	708	0.141374	0.3722	0.0735	5008	,	,		16431	0.1062		0.0089	False		,,,				2504	0.0501				p.P65L		Atlas-SNP	.											.	ZNF774	35	.	0			c.C194T						PASS	.	T	LEU/PRO	1286,3112	696.9+/-406.1	194,898,1107	65	60	61		194	1.4	0	15	dbSNP_123	61	29,8567	817.7+/-406.9	0,29,4269	yes	missense	ZNF774	NM_001004309.2	98	194,927,5376	TT,TC,CC		0.3374,29.2406,10.1201	benign	65/484	90902172	1315,11679	2199	4298	6497	SO:0001583	missense	342132	exon3			AGATCCCGAGGGA	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.194C>T	15.37:g.90902172C>T	ENSP00000346348:p.Pro65Leu	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	46	19	0.413043	NM_001004309	A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	CCDS32330.1	286	0.13095238095238096	182	0.3699186991869919	25	0.06906077348066299	72	0.1258741258741259	7	0.009234828496042216	T	1.139	-0.650179	0.03506	0.292406	0.003374	ENSG00000196391	ENST00000354377;ENST00000379090	T;T	0.21191	2.02;2.02	4.99	1.38	0.22167	.	0.000000	0.27581	N	0.018739	T	0.00012	0.0000	N	0.01751	-0.74	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47824	-0.9087	9	0.18276	T	0.48	.	3.7627	0.08610	0.1708:0.3641:0.0:0.4651	rs16944267;rs52823254;rs16944267	65	Q6NX45	ZN774_HUMAN	L	65	ENSP00000346348:P65L;ENSP00000368383:P65L	ENSP00000346348:P65L	P	+	2	0	ZNF774	88703176	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.163000	0.09997	-0.027000	0.13873	-1.658000	0.00752	CCG	C|0.886;T|0.114	0.114	strong		0.488	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		T	90902172	C	T	90902172	3	4	22	1	0	0	0	0	1	0	0	0	18144	652	23	1	200	1	ZNF774	15	90902172	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	117310	90902172	11629220	7918	13026										
BLM	641	hgsc.bcm.edu	37	chr15	91337479	91337479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattactgtgaaaatataacGgaatgcaggagaatacagct	9	6	0	2	rs2227933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91337479G>A	ENST00000355112.3	+	16	3220	c.3102G>A	c.(3100-3102)acG>acA	p.T1034T	BLM_ENST00000560509.1_Silent_p.T1034T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1034					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAATATAACGGAATGCAGGA	0.338			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				G|||	757	0.151158	0.1974	0.1124	5008	,	,		13066	0.1855		0.165	False		,,,				2504	0.0665				p.T1034T		Atlas-SNP	.	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	.	BLM	122	.	0			c.G3102A						PASS	.	G		833,3563	328.8+/-300.7	79,675,1444	104	106	106		3102	-8.5	0.9	15	dbSNP_98	106	1564,7028	292.0+/-300.6	141,1282,2873	no	coding-synonymous	BLM	NM_000057.2		220,1957,4317	AA,AG,GG		18.203,18.949,18.4555		1034/1418	91337479	2397,10591	2198	4296	6494	SO:0001819	synonymous_variant	641	exon16	Familial Cancer Database		TATAACGGAATGC	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3102G>A	15.37:g.91337479G>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	235	90	0.382979	NM_000057	Q52M96	Silent	SNP	ENST00000355112.3	37	CCDS10363.1																																																																																			A|0.170;G|0.830	0.170	strong		0.338	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			A	91337479	G	A	91337479	2	1	22	1	0	0	0	0	0	0	0	1	1445	1103	39	1		1	BLM	15	91337479	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	435307	91337479	11193913	7919	13027										
BLM	641	hgsc.bcm.edu	37	chr15	91346923	91346923	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatgctcggaaataaagcCcaaactgtactaaatggcaa	9	8	0	1	rs2227934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91346923C>A	ENST00000355112.3	+	18	3649	c.3531C>A	c.(3529-3531)gcC>gcA	p.A1177A	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1177					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAAATAAAGCCCAAACTGTAC	0.313			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				C|||	667	0.133187	0.1309	0.1052	5008	,	,		18805	0.1875		0.165	False		,,,				2504	0.0675				p.A1177A		Atlas-SNP	.	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	.	BLM	122	.	0			c.C3531A						PASS	.	C		546,3850	246.2+/-254.9	28,490,1680	88	86	87		3531	1.2	0.3	15	dbSNP_98	87	1568,7028	291.1+/-300.1	142,1284,2872	no	coding-synonymous	BLM	NM_000057.2		170,1774,4552	AA,AC,CC		18.241,12.4204,16.2716		1177/1418	91346923	2114,10878	2198	4298	6496	SO:0001819	synonymous_variant	641	exon18	Familial Cancer Database		TAAAGCCCAAACT	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3531C>A	15.37:g.91346923C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	36	0.418605	NM_000057	Q52M96	Silent	SNP	ENST00000355112.3	37	CCDS10363.1																																																																																			C|0.848;A|0.152	0.152	strong		0.313	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			A	91346923	C	A	91346923	2	1	22	1	0	0	0	0	0	0	0	1	1445	610	22	4		4	BLM	15	91346923	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9444	91346923	11184469	7920	13028										
FURIN	5045	hgsc.bcm.edu	37	chr15	91419098	91419098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcatccctggaggcccagCggtggccaacagtgtggcac	15	14	0	0	rs16944971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91419098C>T	ENST00000268171.3	+	2	407	c.128C>T	c.(127-129)gCg>gTg	p.A43V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	43			A -> V (in dbSNP:rs16944971).		cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGGCCCAGCGGTGGCCAAC	0.622													C|||	143	0.0285543	0.0938	0.0173	5008	,	,		18737	0.0		0.007	False		,,,				2504	0.0				p.A43V		Atlas-SNP	.											.	FURIN	85	.	0			c.C128T						PASS	.	C	VAL/ALA	340,4048		9,322,1863	54	39	44		128	3.8	0	15	dbSNP_123	44	30,8546		0,30,4258	yes	missense	FURIN	NM_002569.2	64	9,352,6121	TT,TC,CC		0.3498,7.7484,2.8541	benign	43/795	91419098	370,12594	2194	4288	6482	SO:0001583	missense	5045	exon2			GCCCAGCGGTGGC	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.128C>T	15.37:g.91419098C>T	ENSP00000268171:p.Ala43Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_002569	Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	52	0.023809523809523808	38	0.07723577235772358	11	0.03038674033149171	0	0.0	3	0.00395778364116095	C	3.280	-0.147217	0.06627	0.077484	0.003498	ENSG00000140564	ENST00000268171	T	0.31510	1.49	4.77	3.85	0.44370	Proteinase inhibitor, propeptide (1);	0.284147	0.31963	N	0.006784	T	0.00936	0.0031	L	0.35487	1.065	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.09443	-1.0674	10	0.32370	T	0.25	-14.4547	4.2077	0.10497	0.2574:0.5633:0.0:0.1793	rs16944971;rs16944971	43	P09958	FURIN_HUMAN	V	43	ENSP00000268171:A43V	ENSP00000268171:A43V	A	+	2	0	FURIN	89220102	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.595000	0.24029	1.257000	0.44085	0.555000	0.69702	GCG	C|0.968;T|0.032	0.032	strong		0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		T	91419098	C	T	91419098	3	4	22	1	0	0	0	0	1	0	0	0	6099	768	27	1	130	1	FURIN	15	91419098	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72175	91419098	11112294	7921	13029										
FES	2242	hgsc.bcm.edu	37	chr15	91434277	91434277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgagcagctgtggtaccaCggggccatcccgagggcaga	15	12	0	2	rs2229074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91434277C>T	ENST00000328850.3	+	11	1528	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	FES_ENST00000394300.3_Silent_p.H404H|FES_ENST00000450438.2_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000444422.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	462	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTGGTACCACGGGGCCATCC	0.647													C|||	297	0.0593051	0.2126	0.0202	5008	,	,		18427	0.0		0.002	False		,,,				2504	0.0				p.H462H		Atlas-SNP	.											.	FES	102	.	0			c.C1386T						PASS	.	C	,,,	799,3595		75,649,1473	58	49	52		1212,,,1386	-8	0.8	15	dbSNP_98	52	9,8581		0,9,4286	no	coding-synonymous,intron,intron,coding-synonymous	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	,,,	75,658,5759	TT,TC,CC		0.1048,18.1839,6.223	,,,	404/765,,,462/823	91434277	808,12176	2197	4295	6492	SO:0001819	synonymous_variant	2242	exon11			GTACCACGGGGCC	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1386C>T	15.37:g.91434277C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	100	98	0.98	NM_002005	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																			C|0.935;T|0.065	0.065	strong		0.647	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		T	91434277	C	T	91434277	2	4	22	1	0	0	0	0	0	0	0	1	5820	535	19	1		1	FES	15	91434277	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15179	91434277	11097115	7922	13030										
FES	2242	hgsc.bcm.edu	37	chr15	91436965	91436965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatgtcccgagaggaagcCgatggggtctatgcagcctc	16	10	1	1	rs2227989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91436965C>T	ENST00000328850.3	+	17	2269	c.2127C>T	c.(2125-2127)gcC>gcT	p.A709A	FES_ENST00000394300.3_Silent_p.A651A|FES_ENST00000444422.2_Silent_p.A639A|FES_ENST00000414248.2_Silent_p.A581A|FES_ENST00000394302.1_Silent_p.A568A|FES_ENST00000450438.2_Silent_p.A581A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGAGGAAGCCGATGGGGTCT	0.597													T|||	396	0.0790735	0.2829	0.0274	5008	,	,		19349	0.0		0.003	False		,,,				2504	0.0				p.A709A		Atlas-SNP	.											.	FES	102	.	0			c.C2127T						PASS	.	T	,,,	1132,3264	713.0+/-408.2	156,820,1222	69	77	74		1953,1917,1743,2127	-10.7	0.1	15	dbSNP_98	74	15,8581	816.6+/-406.9	0,15,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	,,,	156,835,5505	TT,TC,CC		0.1745,25.7507,8.8285	,,,	651/765,639/753,581/695,709/823	91436965	1147,11845	2198	4298	6496	SO:0001819	synonymous_variant	2242	exon17			GGAAGCCGATGGG	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2127C>T	15.37:g.91436965C>T		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_002005	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																			C|0.910;T|0.090	0.090	strong		0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		T	91436965	C	T	91436965	2	4	22	1	0	0	0	0	0	0	0	1	5820	639	23	1		1	FES	15	91436965	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2688	91436965	11094427	7923	13031										
UNC45A	55898	hgsc.bcm.edu	37	chr15	91485730	91485730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcctgggcgtggaaagcCaggctgtgtccctggctgcc	14	14	0	0	rs115978927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91485730C>G	ENST00000418476.2	+	7	791	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	UNC45A_ENST00000553671.2_Intron|UNC45A_ENST00000394275.2_Missense_Mutation_p.Q236E	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	251					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGTGGAAAGCCAGGCTGTGTC	0.557													C|||	48	0.00958466	0.0325	0.0072	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.0				p.Q251E		Atlas-SNP	.											.	UNC45A	57	.	0			c.C751G						PASS	.	C	GLU/GLN,GLU/GLN	99,4297	79.3+/-117.8	1,97,2100	118	109	112		706,751	4.6	1	15	dbSNP_132	112	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	UNC45A	NM_001039675.1,NM_018671.3	29,29	1,98,6397	GG,GC,CC		0.0116,2.252,0.7697	benign,benign	236/930,251/945	91485730	100,12892	2198	4298	6496	SO:0001583	missense	55898	exon7			GAAAGCCAGGCTG		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.751C>G	15.37:g.91485730C>G	ENSP00000407487:p.Gln251Glu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_018671	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	C	3.104	-0.184173	0.06340	0.02252	1.16E-4	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.44482	0.92;0.92	5.5	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.329961	0.31051	N	0.008356	T	0.06872	0.0175	N	0.01109	-1.01	0.28195	N	0.927606	B;B;B;B	0.12630	0.004;0.006;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.001;0.001	T	0.12708	-1.0537	10	0.02654	T	1	-19.8406	13.9263	0.63964	0.0:0.6338:0.3662:0.0	.	251;243;251;236	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	E	236;251	ENSP00000377816:Q236E;ENSP00000407487:Q251E	ENSP00000377816:Q236E	Q	+	1	0	UNC45A	89286734	0.984000	0.35163	1.000000	0.80357	0.929000	0.56500	3.726000	0.54977	1.405000	0.46838	0.558000	0.71614	CAG	C|0.991;G|0.009	0.009	strong		0.557	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		G	91485730	C	G	91485730	3	3	22	1	0	0	0	0	1	0	0	0	16985	595	21	4	777	4	UNC45A	15	91485730	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48765	91485730	11045662	7924	13032										
VPS33B	26276	hgsc.bcm.edu	37	chr15	91550232	91550232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccttcggcccttggtttcGccatcctcctcctcctccag	8	19	0	0	rs59648701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91550232G>A	ENST00000333371.3	-	9	1001	c.648C>T	c.(646-648)ggC>ggT	p.G216G	VPS33B_ENST00000535906.1_Silent_p.G189G|VPS33B_ENST00000535843.1_Silent_p.G125G	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	216					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCTTGGTTTCGCCATCCTCCT	0.527													G|||	120	0.0239617	0.0809	0.0144	5008	,	,		19376	0.0		0.003	False		,,,				2504	0.0				p.G216G		Atlas-SNP	.											.	VPS33B	42	.	0			c.C648T						PASS	.	G		294,4102	161.4+/-193.6	7,280,1911	114	118	117		648	-1.7	1	15	dbSNP_129	117	8,8588	7.1+/-27.0	0,8,4290	no	coding-synonymous	VPS33B	NM_018668.3		7,288,6201	AA,AG,GG		0.0931,6.6879,2.3245		216/618	91550232	302,12690	2198	4298	6496	SO:0001819	synonymous_variant	26276	exon9			GGTTTCGCCATCC	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.648C>T	15.37:g.91550232G>A		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	33	32	0.969697	NM_018668	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	ENST00000333371.3	37	CCDS10369.1																																																																																			G|0.978;A|0.022	0.022	strong		0.527	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		A	91550232	G	A	91550232	2	1	22	1	0	0	0	0	0	0	0	1	17199	1074	38	1		1	VPS33B	15	91550232	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64502	91550232	10981160	7925	13033										
SV2B	9899	hgsc.bcm.edu	37	chr15	91803567	91803567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgggcaaacatgatgaAgcctggatgattctcaagca	11	8	1	4	rs16945475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91803567A>G	ENST00000394232.1	+	6	1406	c.936A>G	c.(934-936)gaA>gaG	p.E312E	SV2B_ENST00000330276.4_Silent_p.E312E|SV2B_ENST00000545111.2_Silent_p.E161E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	312					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AACATGATGAAGCCTGGATGA	0.463													A|||	450	0.0898562	0.295	0.0375	5008	,	,		19770	0.0		0.0308	False		,,,				2504	0.0031				p.E312E		Atlas-SNP	.											.	SV2B	98	.	0			c.A936G						PASS	.	A	,	1173,3223	412.2+/-336.0	169,835,1194	154	156	155		483,936	1	1	15	dbSNP_123	155	314,8282	111.6+/-171.8	6,302,3990	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	175,1137,5184	GG,GA,AA		3.6529,26.6833,11.4455	,	161/533,312/684	91803567	1487,11505	2198	4298	6496	SO:0001819	synonymous_variant	9899	exon7			TGATGAAGCCTGG	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.936A>G	15.37:g.91803567A>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	54	30	0.555556	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			A|0.900;G|0.100	0.100	strong		0.463	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		G	91803567	A	G	91803567	2	3	22	1	0	0	0	0	0	0	0	1	15415	69	3	3		3	SV2B	15	91803567	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	253335	91803567	10727825	7926	13034										
SV2B	9899	hgsc.bcm.edu	37	chr15	91827264	91827264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccagacctctacgagcaCaagttcatcaactgtcggtt	7	14	3	1	rs2301664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:91827264C>T	ENST00000394232.1	+	11	1991	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	SV2B_ENST00000330276.4_Silent_p.H507H|SV2B_ENST00000545111.2_Silent_p.H356H	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	507					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTACGAGCACAAGTTCATCA	0.522													T|||	642	0.128195	0.261	0.062	5008	,	,		19686	0.0506		0.0765	False		,,,				2504	0.1288				p.H507H		Atlas-SNP	.											.	SV2B	98	.	0			c.C1521T						PASS	.	T	,	1020,3376	726.5+/-409.7	111,798,1289	192	186	188		1068,1521	-2.2	0.4	15	dbSNP_100	188	682,7914	788.1+/-407.6	34,614,3650	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	145,1412,4939	TT,TC,CC		7.9339,23.2029,13.1004	,	356/533,507/684	91827264	1702,11290	2198	4298	6496	SO:0001819	synonymous_variant	9899	exon12			CGAGCACAAGTTC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1521C>T	15.37:g.91827264C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	131	130	0.992366	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			C|0.870;T|0.130	0.130	strong		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91827264	C	T	91827264	2	4	22	1	0	0	0	0	0	0	0	1	15415	477	17	2		2	SV2B	15	91827264	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23697	91827264	10704128	7927	13035										
ST8SIA2	8128	hgsc.bcm.edu	37	chr15	92987938	92987938	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctggtaaccatgaacccCtcggtcatccagcgggcctt	10	15	1	1	rs2305561	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:92987938C>G	ENST00000268164.3	+	5	858	c.621C>G	c.(619-621)ccC>ccG	p.P207P	ST8SIA2_ENST00000539113.1_Silent_p.P186P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	207					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCATGAACCCCTCGGTCATCC	0.592													C|||	1121	0.223842	0.5968	0.1297	5008	,	,		18692	0.0258		0.1054	False		,,,				2504	0.1125				p.P207P		Atlas-SNP	.											.	ST8SIA2	41	.	0			c.C621G						PASS	.	C		2271,2125	597.1+/-388.8	587,1097,514	69	70	70		621	-0.2	1	15	dbSNP_100	70	1159,7437	236.8+/-268.9	83,993,3222	no	coding-synonymous	ST8SIA2	NM_006011.3		670,2090,3736	GG,GC,CC		13.483,48.3394,26.4009		207/376	92987938	3430,9562	2198	4298	6496	SO:0001819	synonymous_variant	8128	exon5			GAACCCCTCGGTC	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.621C>G	15.37:g.92987938C>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	140	63	0.45	NM_006011	Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	CCDS10372.1																																																																																			C|0.758;G|0.242	0.242	strong		0.592	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		G	92987938	C	G	92987938	2	3	22	1	0	0	0	0	0	0	0	1	15231	668	24	4		4	ST8SIA2	15	92987938	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1160674	92987938	9543454	7928	13036										
RGMA	56963	hgsc.bcm.edu	37	chr15	93588309	93588309	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggggcagccccgcagcCgccctgcctggcaggtcccg	15	19	0	0	rs62021480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:93588309C>G	ENST00000329082.7	-	4	1543	c.1272G>C	c.(1270-1272)gcG>gcC	p.A424A	RGMA_ENST00000542321.2_Silent_p.A408A|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Silent_p.A315A|RGMA_ENST00000425933.2_Silent_p.A408A|RGMA_ENST00000557301.1_Silent_p.A432A|RGMA_ENST00000543599.1_Silent_p.A408A|RGMA_ENST00000556658.1_Silent_p.A315A	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	424					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCCCGCAGCCGCCCTGCCTG	0.657													C|||	385	0.076877	0.1936	0.0259	5008	,	,		14593	0.0089		0.0666	False		,,,				2504	0.0358				p.A432A		Atlas-SNP	.											RGMA_ENST00000557301,NS,carcinoma,0,4	RGMA	49	4	0			c.G1296C						scavenged	.	C	,,,,,	582,3284		41,500,1392	19	21	20		1296,1224,1224,1224,1224,1272	-9.7	0	15	dbSNP_129	20	411,7851		5,401,3725	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	46,901,5117	GG,GC,CC		4.9746,15.0543,8.1877	,,,,,	432/459,408/435,408/435,408/435,408/435,424/451	93588309	993,11135	1933	4131	6064	SO:0001819	synonymous_variant	56963	exon4			CGCAGCCGCCCTG	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1272G>C	15.37:g.93588309C>G		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	20	13	0.65	NM_001166283	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	CCDS45357.1																																																																																			C|0.928;G|0.072	0.072	strong		0.657	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		G	93588309	C	G	93588309	2	3	22	1	0	0	0	0	0	0	0	1	13280	639	23	4		4	RGMA	15	93588309	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	600371	93588309	8943083	7929	13037										
RGMA	56963	hgsc.bcm.edu	37	chr15	93588657	93588657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggtagagaccctggctGtcccagtcctccacagcatt	10	14	0	2	rs61733836	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:93588657G>A	ENST00000329082.7	-	4	1195	c.924C>T	c.(922-924)gaC>gaT	p.D308D	RGMA_ENST00000542321.2_Silent_p.D292D|RGMA_ENST00000538818.1_Silent_p.D199D|RGMA_ENST00000425933.2_Silent_p.D292D|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Silent_p.D292D|RGMA_ENST00000557301.1_Silent_p.D316D|RGMA_ENST00000556658.1_Silent_p.D199D	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	308					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GACCCTGGCTGTCCCAGTCCT	0.647													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		18464	0.0		0.0	False		,,,				2504	0.0				p.D316D		Atlas-SNP	.											.	RGMA	49	.	0			c.C948T						PASS	.	G	,,,,,	93,4121		3,87,2017	27	34	32		948,876,876,876,876,924	4.8	1	15	dbSNP_129	32	0,8432		0,0,4216	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	3,87,6233	AA,AG,GG		0.0,2.2069,0.7354	,,,,,	316/459,292/435,292/435,292/435,292/435,308/451	93588657	93,12553	2107	4216	6323	SO:0001819	synonymous_variant	56963	exon4			CTGGCTGTCCCAG	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.924C>T	15.37:g.93588657G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_001166283	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	CCDS45357.1																																																																																			G|0.994;A|0.006	0.006	strong		0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		A	93588657	G	A	93588657	2	1	22	1	0	0	0	0	0	0	0	1	13280	1368	48	2		2	RGMA	15	93588657	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	348	93588657	8942735	7930	13038										
MCTP2	55784	hgsc.bcm.edu	37	chr15	94858808	94858808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctccccagcccttttgcGtacctcctcaccatacacct	3	20	1	0	rs146431277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:94858808G>A	ENST00000357742.4	+	3	579	c.579G>A	c.(577-579)gcG>gcA	p.A193A	MCTP2_ENST00000543482.1_Silent_p.A193A|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.A193A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	193	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCCTTTTGCGTACCTCCTCA	0.547													g|||	8	0.00159744	0.0053	0.0	5008	,	,		17286	0.0		0.0	False		,,,				2504	0.001				p.A193A		Atlas-SNP	.											MCTP2,NS,adenoma,0,1	MCTP2	122	1	0			c.G579A						PASS	.	A	,	28,4366	34.3+/-65.2	0,28,2169	150	121	131		579,579	-12.1	0	15	dbSNP_134	131	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	MCTP2	NM_001159643.1,NM_018349.3	,	0,29,6466	AA,AG,GG		0.0116,0.6372,0.2232	,	193/824,193/879	94858808	29,12961	2197	4298	6495	SO:0001819	synonymous_variant	55784	exon3			TTTTGCGTACCTC	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.579G>A	15.37:g.94858808G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	203	105	0.517241	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	CCDS32338.1																																																																																			G|0.998;A|0.002	0.002	strong		0.547	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		A	94858808	G	A	94858808	2	1	22	1	0	0	0	0	0	0	0	1	9401	1132	40	1		1	MCTP2	15	94858808	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1270151	94858808	7672584	7931	13039										
MCTP2	55784	hgsc.bcm.edu	37	chr15	94945719	94945719	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcaatttcattcagcaccGcaaagaggaaccacccctgt	7	13	2	1	rs7178698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:94945719G>T	ENST00000357742.4	+	16	2085				MCTP2_ENST00000331706.4_Missense_Mutation_p.R285L|MCTP2_ENST00000557742.1_Missense_Mutation_p.R285L|MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATTCAGCACCGCAAAGAGGAA	0.378													T|||	3107	0.620407	0.5499	0.6484	5008	,	,		19751	0.5089		0.8131	False		,,,				2504	0.6125				p.R285L		Atlas-SNP	.											.	MCTP2	122	.	0			c.G854T						PASS	.	T	,LEU/ARG,	761,611		210,341,135	147	116	126		,854,	-2.4	0	15	dbSNP_116	126	2566,612		1037,492,60	yes	intron,missense,intron	MCTP2	NM_001159643.1,NM_001159644.1,NM_018349.3	,102,	1247,833,195	TT,TG,GG		19.2574,44.5335,26.8791	,,	,285/307,	94945719	3327,1223	686	1589	2275	SO:0001627	intron_variant	55784	exon10			AGCACCGCAAAGA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2085+471G>T	15.37:g.94945719G>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	155	68	0.43871	NM_001159644	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	1421	0.6506410256410257	256	0.5203252032520326	250	0.6906077348066298	291	0.5087412587412588	624	0.8232189973614775	T	5.565	0.289024	0.10513	0.554665	0.807426	ENSG00000140563	ENST00000331706	T	0.64260	-0.09	4.39	-2.44	0.06502	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	7	0.11485	T	0.65	.	3.8968	0.09143	0.3508:0.0:0.3439:0.3053	rs7178698;rs57280670;rs7178698	285	Q6DN12-4	.	L	285	ENSP00000329646:R285L	ENSP00000329646:R285L	R	+	2	0	MCTP2	92746723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.547000	0.06055	-0.821000	0.04312	-1.962000	0.00476	CGC	G|0.358;T|0.642	0.642	strong		0.378	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94945719	G	T	94945719	1	4	22	0	1	0	0	0	0	0	0	0	9401	1087	38	4		4	MCTP2	15	94945719	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86911	94945719	7585673	7932	13040										
MCTP2	55784	hgsc.bcm.edu	37	chr15	95019926	95019926	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtttctatttttcaggCataaataaatttactaagaa	5	5	2	1	rs386786753|rs79112132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:95019926C>T	ENST00000357742.4	+	21	2472	c.2472C>T	c.(2470-2472)ggC>ggT	p.G824G	MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Splice_Site_p.G769G	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	824					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATTTTTCAGGCATAAATAAAT	0.348													C|||	436	0.0870607	0.146	0.0245	5008	,	,		17988	0.0575		0.0229	False		,,,				2504	0.1483				p.G824G		Atlas-SNP	.											.	MCTP2	122	.	0			c.C2472T						PASS	.	C	,	486,3908	188.5+/-214.9	26,434,1737	73	77	76		2307,2472	3.9	1	15	dbSNP_131	76	52,8544	31.2+/-83.2	0,52,4246	no	coding-synonymous-near-splice,coding-synonymous-near-splice	MCTP2	NM_001159643.1,NM_018349.3	,	26,486,5983	TT,TC,CC		0.6049,11.0605,4.1416	,	769/824,824/879	95019926	538,12452	2197	4298	6495	SO:0001630	splice_region_variant	55784	exon21			TTCAGGCATAAAT	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2471-1C>T	15.37:g.95019926C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	43	25	0.581395	NM_018349	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	CCDS32338.1																																																																																			C|0.953;T|0.047	0.047	strong		0.348	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	Silent	T	95019926	C	T	95019926	5	4	22	1	0	0	0	0	0	0	1	0	9401	724	25	2	2630	2	MCTP2	15	95019926	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74207	95019926	7511466	7933	13041										
PGPEP1L	145814	hgsc.bcm.edu	37	chr15	99512877	99512877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccatgcccacatgcacgaCgagctgtgtgaacgggtaac	12	12	0	1	rs78254881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:99512877C>T	ENST00000378919.6	-	4	353	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_5'UTR	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	50							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						ACATGCACGACGAGCTGTGTG	0.602													C|||	66	0.0131789	0.0469	0.0058	5008	,	,		16700	0.0		0.0	False		,,,				2504	0.0				p.V50I		Atlas-SNP	.											.	PGPEP1L	26	.	0			c.G148A						PASS	.	C	ILE/VAL,	145,4113		4,137,1988	77	82	80		148,	0.1	0.1	15	dbSNP_131	80	5,8489		0,5,4242	yes	missense,utr-5	PGPEP1L	NM_001102612.2,NM_001167902.1	29,	4,142,6230	TT,TC,CC		0.0589,3.4054,1.1763	benign,	50/197,	99512877	150,12602	2129	4247	6376	SO:0001583	missense	145814	exon4			GCACGACGAGCTG		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.148G>A	15.37:g.99512877C>T	ENSP00000368199:p.Val50Ile	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_001102612	H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	25	0.011446886446886446	20	0.04065040650406504	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	4.380	0.070062	0.08436	0.034054	5.89E-4	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.54279	0.58	4.36	0.0993	0.14502	.	.	.	.	.	T	0.11024	0.0269	L	0.41573	1.285	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.12502	-1.0545	9	0.40728	T	0.16	-23.075	3.4626	0.07539	0.1898:0.3126:0.0:0.4976	.	50	A6NFU8	PGPIL_HUMAN	I	50;43	ENSP00000368199:V50I	ENSP00000368199:V50I	V	-	1	0	PGPEP1L	97330400	0.000000	0.05858	0.065000	0.19835	0.005000	0.04900	0.029000	0.13666	0.141000	0.18875	-0.827000	0.03088	GTC	C|0.986;T|0.014	0.014	strong		0.602	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99512877	C	T	99512877	3	4	22	1	0	0	0	0	1	0	0	0	11804	536	19	1	450	1	PGPEP1L	15	99512877	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4492951	99512877	3018515	7934	13042										
TTC23	64927	hgsc.bcm.edu	37	chr15	99678257	99678257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccttccccagcagggtGtcctgagggatgctggtgca	16	12	0	1	rs28617660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:99678257G>A	ENST00000394132.2	-	14	2119	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	TTC23_ENST00000262074.4_Silent_p.D434D|TTC23_ENST00000558663.1_Silent_p.D434D|TTC23_ENST00000558613.1_Silent_p.D434D|TTC23_ENST00000394136.1_Silent_p.D434D|TTC23_ENST00000394135.3_Silent_p.D434D|RP11-6O2.3_ENST00000564527.1_RNA			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	434										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCAGCAGGGTGTCCTGAGGGA	0.607													G|||	724	0.144569	0.348	0.0677	5008	,	,		16457	0.0486		0.0805	False		,,,				2504	0.089				p.D434D		Atlas-SNP	.											.	TTC23	33	.	0			c.C1302T						PASS	.	G	,,,,,,	1150,2786		185,780,1003	45	51	49		1302,1302,1302,1302,1302,1302,1302	2.9	0	15	dbSNP_125	49	645,7625		23,599,3513	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTC23	NM_001040655.1,NM_001040656.1,NM_001040657.1,NM_001040658.1,NM_001040659.1,NM_001040660.1,NM_022905.4	,,,,,,	208,1379,4516	AA,AG,GG		7.7993,29.2175,14.7059	,,,,,,	434/448,434/448,434/448,434/448,434/448,434/448,434/448	99678257	1795,10411	1968	4135	6103	SO:0001819	synonymous_variant	64927	exon12			CAGGGTGTCCTGA		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1302C>T	15.37:g.99678257G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	84	35	0.416667	NM_001040657	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	ENST00000394132.2	37	CCDS10379.2	281	0.12866300366300365	164	0.3333333333333333	23	0.06353591160220995	28	0.04895104895104895	66	0.0870712401055409	G	6.755	0.508122	0.12883	0.292175	0.077993	ENSG00000103852	ENST00000434594	.	.	.	4.77	2.89	0.33648	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.35450	-0.9788	3	.	.	.	0.0	7.4339	0.27143	0.2032:0.0:0.7968:0.0	rs28617660	.	.	.	I	245	.	.	T	-	2	0	TTC23	97495780	0.010000	0.17322	0.000000	0.03702	0.033000	0.12548	1.861000	0.39438	0.540000	0.28808	-0.251000	0.11542	ACA	G|0.888;A|0.112	0.112	strong		0.607	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		A	99678257	G	A	99678257	2	1	22	1	0	0	0	0	0	0	0	1	16687	1368	48	2		2	TTC23	15	99678257	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165380	99678257	2853135	7935	13043										
LYSMD4	145748	hgsc.bcm.edu	37	chr15	100269613	100269613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggcgtcttcggaggtgcCgggagcagtggctgatggga	19	7	1	1	rs11852387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:100269613C>T	ENST00000409796.1	-	3	668	c.606G>A	c.(604-606)ccG>ccA	p.P202P	LYSMD4_ENST00000344791.2_Silent_p.P203P|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Silent_p.P202P|LYSMD4_ENST00000545021.1_Silent_p.P76P	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	202						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCGGAGGTGCCGGGAGCAGTG	0.483													C|||	448	0.0894569	0.2542	0.049	5008	,	,		20870	0.0228		0.0408	False		,,,				2504	0.0143				p.P203P		Atlas-SNP	.											.	LYSMD4	21	.	0			c.G609A						PASS	.	C		939,3467	359.9+/-315.0	98,743,1362	119	114	116		609	-9.2	0	15	dbSNP_120	116	333,8267	115.3+/-175.2	9,315,3976	no	coding-synonymous	LYSMD4	NM_152449.2		107,1058,5338	TT,TC,CC		3.8721,21.3118,9.7801		203/298	100269613	1272,11734	2203	4300	6503	SO:0001819	synonymous_variant	145748	exon6			AGGTGCCGGGAGC	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.606G>A	15.37:g.100269613C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_152449	A6NII6|A8K2N1|Q96LY7	Silent	SNP	ENST00000409796.1	37																																																																																				C|0.903;T|0.097	0.097	strong		0.483	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		T	100269613	C	T	100269613	2	4	22	1	0	0	0	0	0	0	0	1	9127	639	23	1		1	LYSMD4	15	100269613	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	591356	100269613	2261779	7936	13044										
ADAMTS17	170691	hgsc.bcm.edu	37	chr15	100636586	100636586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgggcgtggctgaagtcGcccttcaccaagtggcaggt	14	14	1	1	rs4965583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:100636586G>A	ENST00000268070.4	-	15	2217	c.2112C>T	c.(2110-2112)ggC>ggT	p.G704G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	704	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCTGAAGTCGCCCTTCACCA	0.577													g|||	1321	0.263778	0.2504	0.2925	5008	,	,		17908	0.5		0.1262	False		,,,				2504	0.1595				p.G704G		Atlas-SNP	.											.	ADAMTS17	127	.	0			c.C2112T						PASS	.	G		1028,3378	376.8+/-322.2	113,802,1288	110	118	115		2112	-9.5	0.9	15	dbSNP_111	115	1127,7473	231.2+/-265.3	82,963,3255	no	coding-synonymous	ADAMTS17	NM_139057.2		195,1765,4543	AA,AG,GG		13.1047,23.3318,16.5693		704/1096	100636586	2155,10851	2203	4300	6503	SO:0001819	synonymous_variant	170691	exon15			GAAGTCGCCCTTC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2112C>T	15.37:g.100636586G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_139057	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																			G|0.801;A|0.199	0.199	strong		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100636586	G	A	100636586	2	1	22	1	0	0	0	0	0	0	0	1	262	1074	38	1		1	ADAMTS17	15	100636586	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	366973	100636586	1894806	7937	13045										
ADAMTS17	170691	hgsc.bcm.edu	37	chr15	100821467	100821467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaggatgaacctctgggcGgcctcggccccgtggtactg	15	13	2	1	rs7496640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:100821467G>A	ENST00000268070.4	-	4	861	c.756C>T	c.(754-756)gcC>gcT	p.A252A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	252	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACCTCTGGGCGGCCTCGGCCC	0.642													G|||	2504	0.5	0.5	0.5605	5008	,	,		14806	0.505		0.3499	False		,,,				2504	0.6063				p.A252A		Atlas-SNP	.											ADAMTS17,NS,carcinoma,0,1	ADAMTS17	127	1	0			c.C756T						PASS	.	G		2145,2261	572.9+/-383.4	517,1111,575	64	70	68		756	-9.6	0.9	15	dbSNP_116	68	2862,5738	445.9+/-361.1	447,1968,1885	no	coding-synonymous	ADAMTS17	NM_139057.2		964,3079,2460	AA,AG,GG		33.2791,48.6836,38.4976		252/1096	100821467	5007,7999	2203	4300	6503	SO:0001819	synonymous_variant	170691	exon4			CTGGGCGGCCTCG	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.756C>T	15.37:g.100821467G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	37	25	0.675676	NM_139057	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																			G|0.576;A|0.424	0.424	strong		0.642	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100821467	G	A	100821467	2	1	22	1	0	0	0	0	0	0	0	1	262	1103	39	1		1	ADAMTS17	15	100821467	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	184881	100821467	1709925	7938	13046										
ADAMTS17	170691	hgsc.bcm.edu	37	chr15	100821576	100821576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgctcccgccagtcccgcGaaggcctgccccacgtcggc	11	21	0	0	rs7496668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:100821576G>A	ENST00000268070.4	-	4	752	c.647C>T	c.(646-648)tCg>tTg	p.S216L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	216			S -> L (in dbSNP:rs7496668). {ECO:0000269|PubMed:19836009}.			proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCAGTCCCGCGAAGGCCTGCC	0.597													G|||	2427	0.484625	0.447	0.5504	5008	,	,		16139	0.505		0.3489	False		,,,				2504	0.6074				p.S216L		Atlas-SNP	.											ADAMTS17,NS,carcinoma,0,1	ADAMTS17	127	1	0			c.C647T						PASS	.	G	LEU/SER	1873,2497		409,1055,721	29	27	28		647	3.6	0	15	dbSNP_116	28	2807,5731		446,1915,1908	yes	missense	ADAMTS17	NM_139057.2	145	855,2970,2629	AA,AG,GG		32.8766,42.8604,36.2566	benign	216/1096	100821576	4680,8228	2185	4269	6454	SO:0001583	missense	170691	exon4			TCCCGCGAAGGCC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.647C>T	15.37:g.100821576G>A	ENSP00000268070:p.Ser216Leu	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	46	45	0.978261	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	958	0.43864468864468864	236	0.4796747967479675	184	0.5082872928176796	280	0.48951048951048953	258	0.3403693931398417	G	14.09	2.430321	0.43122	0.428604	0.328766	ENSG00000140470	ENST00000268070	T	0.61980	0.06	4.51	3.57	0.40892	.	0.752556	0.12004	N	0.508584	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.14012	0.009	B	0.06405	0.002	T	0.45101	-0.9284	9	0.25106	T	0.35	.	12.6923	0.56982	0.0:0.166:0.834:0.0	rs7496668;rs60305285;rs7496668	216	Q8TE56	ATS17_HUMAN	L	216	ENSP00000268070:S216L	ENSP00000268070:S216L	S	-	2	0	ADAMTS17	98639099	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.272000	0.18644	0.852000	0.35287	0.462000	0.41574	TCG	G|0.589;A|0.411	0.411	strong		0.597	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100821576	G	A	100821576	3	1	22	1	0	0	0	0	1	0	0	0	262	1059	37	1	2716	1	ADAMTS17	15	100821576	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109	100821576	1709816	7939	13047										
LASS3	204219	hgsc.bcm.edu	37	chr15	101041921	101041921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatcagcaagagaaaagcaTatggaattgtcacgtataaa	8	5	2	1	rs60405735	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:101041921T>C	ENST00000394113.1	-	5	824	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	CERS3_ENST00000538112.2_Missense_Mutation_p.Y45C|CERS3_ENST00000284382.4_Missense_Mutation_p.Y45C|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	45			Y -> C (in dbSNP:rs60405735).		ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GAGAAAAGCATATGGAATTGT	0.383													T|||	561	0.112021	0.292	0.036	5008	,	,		20588	0.0119		0.0507	False		,,,				2504	0.089				p.Y45C		Atlas-SNP	.											.	.	.	.	0			c.A134G						PASS	.	T	CYS/TYR	1105,3301	397.6+/-330.5	136,833,1234	102	89	93		134	-7.7	0	15	dbSNP_129	93	528,8072	147.9+/-203.2	17,494,3789	yes	missense	CERS3	NM_178842.3	194	153,1327,5023	CC,CT,TT		6.1395,25.0794,12.5557	benign	45/384	101041921	1633,11373	2203	4300	6503	SO:0001583	missense	204219	exon4			AAAGCATATGGAA		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.134A>G	15.37:g.101041921T>C	ENSP00000377672:p.Tyr45Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	195	0.08928571428571429	130	0.26422764227642276	15	0.04143646408839779	5	0.008741258741258742	45	0.059366754617414245	T	10.35	1.327124	0.24080	0.250794	0.061395	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.69926	-0.44;-0.44	5.49	-7.72	0.01250	.	0.617290	0.17774	N	0.162475	T	0.00012	0.0000	M	0.71296	2.17	0.49299	P	2.2999999999995246E-4	B	0.09022	0.002	B	0.06405	0.002	T	0.07888	-1.0749	9	0.56958	D	0.05	-0.038	5.2062	0.15293	0.314:0.3799:0.0:0.3061	rs60405735;rs62619254	45	Q8IU89	CERS3_HUMAN	C	45;56;45	ENSP00000284382:Y45C;ENSP00000437640:Y45C	ENSP00000284382:Y45C	Y	-	2	0	CERS3	98859444	0.992000	0.36948	0.007000	0.13788	0.722000	0.41435	0.336000	0.19823	-1.463000	0.01904	-0.924000	0.02725	TAT	T|0.888;C|0.112	0.112	strong		0.383	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		C	101041921	T	C	101041921	3	2	22	1	0	0	0	0	1	0	0	0	8640	1406	49	2	1057	2	LASS3	15	101041921	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	220345	101041921	1489471	7940	13048										
LRRK1	79705	hgsc.bcm.edu	37	chr15	101591923	101591923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccttatttagccctgacAgccacagagagcgacgggac	11	12	0	2	rs4965778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:101591923A>G	ENST00000388948.3	+	24	3806	c.3447A>G	c.(3445-3447)acA>acG	p.T1149T	RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.T1146T	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)			TAGCCCTGACAGCCACAGAGA	0.637													G|||	2259	0.451078	0.1316	0.598	5008	,	,		19178	0.8006		0.4145	False		,,,				2504	0.456				p.T1149T		Atlas-SNP	.											.	LRRK1	310	.	0			c.A3447G						PASS	.	G		641,3507		40,561,1473	49	50	50		3447	-7.1	0.5	15	dbSNP_111	50	3258,5170		603,2052,1559	no	coding-synonymous	LRRK1	NM_024652.3		643,2613,3032	GG,GA,AA		38.6569,15.4532,31.0035		1149/2016	101591923	3899,8677	2074	4214	6288	SO:0001819	synonymous_variant	79705	exon24			CCTGACAGCCACA	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.3447A>G	15.37:g.101591923A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	95	50	0.526316	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			A|0.548;G|0.452	0.452	strong		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		G	101591923	A	G	101591923	2	3	22	1	0	0	0	0	0	0	0	1	9032	175	7	3		3	LRRK1	15	101591923	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	550002	101591923	939469	7941	13049										
LRRK1	79705	hgsc.bcm.edu	37	chr15	101606084	101606084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgagggggactccatcgcGgacgtgagcatcatgtacag	14	11	1	2	rs116529941	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:101606084G>A	ENST00000388948.3	+	32	5801	c.5442G>A	c.(5440-5442)gcG>gcA	p.A1814A	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.A1811A	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)			ACTCCATCGCGGACGTGAGCA	0.622													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17606	0.0		0.0	False		,,,				2504	0.0				p.A1814A		Atlas-SNP	.											.	LRRK1	310	.	0			c.G5442A						PASS	.	G		10,4162		0,10,2076	61	69	66		5442	-11	0	15	dbSNP_132	66	0,8430		0,0,4215	no	coding-synonymous	LRRK1	NM_024652.3		0,10,6291	AA,AG,GG		0.0,0.2397,0.0794		1814/2016	101606084	10,12592	2086	4215	6301	SO:0001819	synonymous_variant	79705	exon32			CATCGCGGACGTG	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.5442G>A	15.37:g.101606084G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	136	75	0.551471	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			G|0.997;A|0.003	0.003	strong		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101606084	G	A	101606084	2	1	22	1	0	0	0	0	0	0	0	1	9032	1103	39	1		1	LRRK1	15	101606084	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14161	101606084	925308	7942	13050										
CHSY1	22856	hgsc.bcm.edu	37	chr15	101718097	101718097	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggaattctgtagtaaaCacgaggtcgacgtcgcagaa	12	7	1	2	rs28364839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:101718097C>G	ENST00000254190.3	-	3	2380	c.1905G>C	c.(1903-1905)gtG>gtC	p.V635V	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	635					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)			CTGTAGTAAACACGAGGTCGA	0.448													C|||	1206	0.240815	0.4644	0.1527	5008	,	,		20757	0.0347		0.2256	False		,,,				2504	0.229				p.V635V		Atlas-SNP	.											.	CHSY1	60	.	0			c.G1905C						PASS	.	C		1824,2582	534.4+/-373.9	388,1048,767	69	67	68		1905	2.8	1	15	dbSNP_125	68	2053,6547	352.9+/-328.9	235,1583,2482	no	coding-synonymous	CHSY1	NM_014918.4		623,2631,3249	GG,GC,CC		23.8721,41.3981,29.8093		635/803	101718097	3877,9129	2203	4300	6503	SO:0001819	synonymous_variant	22856	exon3			AGTAAACACGAGG	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.1905G>C	15.37:g.101718097C>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	89	50	0.561798	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																			C|0.724;G|0.276	0.276	strong		0.448	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		G	101718097	C	G	101718097	2	3	22	1	0	0	0	0	0	0	0	1	3412	465	17	4		4	CHSY1	15	101718097	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	112013	101718097	813295	7943	13051										
SNRPA1	6627	hgsc.bcm.edu	37	chr15	101835306	101835306	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcccccggactcaccccgGaggtccagctcccggtcgcg	12	20	1	0	rs61738984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:101835306G>C	ENST00000254193.6	-	1	150	c.78C>G	c.(76-78)ctC>ctG	p.L26L	RP11-299G20.2_ENST00000558838.1_RNA|SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	26					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTCACCCCGGAGGTCCAGCT	0.721													G|||	442	0.0882588	0.2829	0.0749	5008	,	,		11636	0.001		0.007	False		,,,				2504	0.0082				p.L26L		Atlas-SNP	.											.	SNRPA1	11	.	0			c.C78G						PASS	.	G		774,3286		49,676,1305	5	5	5		78	-8.1	0.2	15	dbSNP_129	5	29,7973		1,27,3973	no	coding-synonymous	SNRPA1	NM_003090.2		50,703,5278	CC,CG,GG		0.3624,19.064,6.6573		26/256	101835306	803,11259	2030	4001	6031	SO:0001819	synonymous_variant	6627	exon1			ACCCCGGAGGTCC	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.78C>G	15.37:g.101835306G>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	47	21	0.446809	NM_003090	B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	37	CCDS10391.1																																																																																			G|0.906;C|0.094	0.094	strong		0.721	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		C	101835306	G	C	101835306	2	2	22	1	0	0	0	0	0	0	0	1	14860	1161	41	4		4	SNRPA1	15	101835306	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117209	101835306	696086	7944	13052										
TM2D3	80213	hgsc.bcm.edu	37	chr15	102192540	102192540	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacaaggcgcggaggccccTcagcgggagcacccctcccg	13	18	1	0	rs675436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:102192540T>G	ENST00000333202.3	-	1	30	c.25A>C	c.(25-27)Agg>Cgg	p.R9R	TM2D3_ENST00000559107.1_Silent_p.R9R|TM2D3_ENST00000428002.2_Silent_p.R9R|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000347970.3_Silent_p.R9R|TARSL2_ENST00000559492.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	9						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	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)			CGGAGGCCCCTCAGCGGGAGC	0.721													G|||	1297	0.258986	0.2428	0.2507	5008	,	,		12715	0.0456		0.4443	False		,,,				2504	0.316				p.R9R		Atlas-SNP	.											.	TM2D3	18	.	0			c.A25C						PASS	.	G	,	1285,3077		192,901,1088	21	23	23		25,25	-2	0	15	dbSNP_83	23	3824,4730		867,2090,1320	no	coding-synonymous,coding-synonymous	TM2D3	NM_025141.3,NM_078474.2	,	1059,2991,2408	GG,GT,TT		44.7042,29.459,39.5556	,	9/222,9/248	102192540	5109,7807	2181	4277	6458	SO:0001819	synonymous_variant	80213	exon1			GGCCCCTCAGCGG	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.25A>C	15.37:g.102192540T>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	58	21	0.362069	NM_025141	B2RDK9|Q9H046|Q9H651	Silent	SNP	ENST00000333202.3	37	CCDS10393.1																																																																																			T|0.666;G|0.334	0.334	strong		0.721	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		G	102192540	T	G	102192540	2	3	22	1	0	0	0	0	0	0	0	1	15962	1550	54	5		5	TM2D3	15	102192540	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	357234	102192540	338852	7945	13053										
OR4F6	390648	hgsc.bcm.edu	37	chr15	102346030	102346030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttctcagtgttctatgtGtcaagcctgatgggaaatct	9	7	4	1	rs401632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr15:102346030G>A	ENST00000328882.4	+	1	129	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTTCTATGTGTCAAGCCTGA	0.498													g|||	235	0.0469249	0.1732	0.0086	5008	,	,		20248	0.0		0.0	False		,,,				2504	0.0				p.V36V		Atlas-SNP	.											.	OR4F6	45	.	0			c.G108A						PASS	.	G		769,3637		68,633,1502	254	233	240		108	0.4	0.1	15	dbSNP_80	240	23,8577		0,23,4277	no	coding-synonymous	OR4F6	NM_001005326.1		68,656,5779	AA,AG,GG		0.2674,17.4535,6.0895		36/313	102346030	792,12214	2203	4300	6503	SO:0001819	synonymous_variant	390648	exon1			CTATGTGTCAAGC	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.108G>A	15.37:g.102346030G>A		Somatic	267	1	0.00374532		WXS	Illumina HiSeq	Phase_I	279	135	0.483871	NM_001005326	B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	37	CCDS32341.1																																																																																			G|0.944;A|0.056	0.056	strong		0.498	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			A	102346030	G	A	102346030	2	1	22	1	0	0	0	0	0	0	0	1	11066	1364	48	2		2	OR4F6	15	102346030	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153490	102346030	185362	7946	13054										
RHBDF1	64285	hgsc.bcm.edu	37	chr16	113027	113027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaccgactctcgcttgcGccgccgcgggagccggtgga	16	16	1	0	rs78541046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:113027G>A	ENST00000262316.6	-	5	758	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R206C	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	206					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCTCGCTTGCGCCGCCGCGGG	0.701													G|||	19	0.00379393	0.0144	0.0	5008	,	,		13623	0.0		0.0	False		,,,				2504	0.0				p.R206C		Atlas-SNP	.											.	RHBDF1	54	.	0			c.C616T						PASS	.	G	CYS/ARG	46,4332		1,44,2144	27	32	30		616	5.1	1	16	dbSNP_131	30	0,8578		0,0,4289	yes	missense	RHBDF1	NM_022450.3	180	1,44,6433	AA,AG,GG		0.0,1.0507,0.355	probably-damaging	206/856	113027	46,12910	2189	4289	6478	SO:0001583	missense	64285	exon5			GCTTGCGCCGCCG	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.616C>T	16.37:g.113027G>A	ENSP00000262316:p.Arg206Cys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	140	80	0.571429	NM_022450	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	.	24.2	4.509855	0.85282	0.010507	0.0	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.80304	-1.36;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.88684	0.3204	10	0.62326	D	0.03	-33.0545	17.4836	0.87682	0.0:0.0:1.0:0.0	.	206;229;206	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	C	206	ENSP00000262316:R206C;ENSP00000392133:R206C	ENSP00000262316:R206C	R	-	1	0	RHBDF1	53027	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.266000	0.65525	2.354000	0.79902	0.462000	0.41574	CGC	G|0.996;A|0.004	0.004	strong		0.701	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		A	113027	G	A	113027	3	1	22	1	0	0	0	0	1	0	0	0	13319	1087	38	1	2007	1	RHBDF1	16	113027	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10		113027	90241726	7947	13055										
MPG	4350	hgsc.bcm.edu	37	chr16	129654	129654	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgactggggttggagttCttcgaccagccggcagtccc	13	14	1	0	rs710081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:129654C>T	ENST00000219431.4	+	3	501	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_Silent_p.F73F	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	90					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.F90F(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GGTTGGAGTTCTTCGACCAGC	0.622								Base excision repair (BER), DNA glycosylases					N|||	1249	0.249401	0.6203	0.1484	5008	,	,		17330	0.1091		0.0119	False		,,,				2504	0.2086				p.F90F		Atlas-SNP	.											MPG,NS,carcinoma,0,1	MPG	26	1	1	Substitution - coding silent(1)	stomach(1)	c.C270T						PASS	.		,,	2097,2247		526,1045,601	20	26	24		255,219,270	-1	0.4	16	dbSNP_98	24	91,8463		2,87,4188	no	coding-synonymous,coding-synonymous,coding-synonymous	MPG	NM_001015052.1,NM_001015054.1,NM_002434.2	,,	528,1132,4789	TT,TC,CC		1.0638,48.2735,16.9639	,,	85/294,73/282,90/299	129654	2188,10710	2172	4277	6449	SO:0001819	synonymous_variant	4350	exon3			GGAGTTCTTCGAC		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.270C>T	16.37:g.129654C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	104	54	0.519231	NM_002434	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	CCDS32346.1																																																																																			C|0.762;T|0.238	0.238	strong		0.622	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			T	129654	C	T	129654	2	4	22	1	0	0	0	0	0	0	0	1	9724	912	32	2		2	MPG	16	129654	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16627	129654	90225099	7948	13056										
PDIA2	64714	hgsc.bcm.edu	37	chr16	334580	334580	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgggaaccgcacgcacccGgaggagtacacaggtgaggg	16	10	0	1	rs432925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:334580G>C	ENST00000219406.6	+	2	411	c.393G>C	c.(391-393)ccG>ccC	p.P131P	PDIA2_ENST00000404312.1_Silent_p.P131P	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	131	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCACGCACCCGGAGGAGTACA	0.677													g|||	1234	0.246406	0.32	0.2089	5008	,	,		15702	0.119		0.2913	False		,,,				2504	0.2587				p.P131P		Atlas-SNP	.											.	PDIA2	51	.	0			c.G393C						PASS	.	G		1233,3005		191,851,1077	34	40	38		393	-8.9	0.4	16	dbSNP_80	38	2417,6025		353,1711,2157	no	coding-synonymous	PDIA2	NM_006849.2		544,2562,3234	CC,CG,GG		28.6307,29.0939,28.7855		131/526	334580	3650,9030	2119	4221	6340	SO:0001819	synonymous_variant	64714	exon2			GCACCCGGAGGAG	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.393G>C	16.37:g.334580G>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	82	43	0.52439	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1	508	0.2326007326007326	142	0.2886178861788618	81	0.22375690607734808	69	0.12062937062937062	216	0.2849604221635884	g	0.088	-1.171117	0.01660	0.290939	0.286307	ENSG00000185615	ENST00000456379	.	.	.	4.47	-8.93	0.00771	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999673342	.	.	.	.	.	.	T	0.20840	-1.0263	3	.	.	.	.	2.4162	0.04437	0.1433:0.1924:0.3952:0.2691	rs432925	.	.	.	P	128	.	.	R	+	2	0	PDIA2	274581	0.000000	0.05858	0.433000	0.26760	0.013000	0.08279	-1.350000	0.02624	-2.615000	0.00443	-1.077000	0.02231	CGG	G|0.756;C|0.244	0.244	strong		0.677	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		C	334580	G	C	334580	2	2	22	1	0	0	0	0	0	0	0	1	11668	1103	39	4		4	PDIA2	16	334580	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	204926	334580	90020173	7949	13057										
PDIA2	64714	hgsc.bcm.edu	37	chr16	334890	334890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcaggacctgcaggacGaggacgtggccaccttcttg	12	15	2	0	rs419949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:334890G>A	ENST00000219406.6	+	4	571	c.553G>A	c.(553-555)Gag>Aag	p.E185K	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.E182K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	185			E -> K (in dbSNP:rs419949).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCTGCAGGACGAGGACGTGGC	0.677													g|||	511	0.102037	0.1641	0.1023	5008	,	,		16673	0.001		0.1839	False		,,,				2504	0.0378				p.E185K		Atlas-SNP	.											.	PDIA2	51	.	0			c.G553A						PASS	.	G	LYS/GLU	607,3523		36,535,1494	39	47	45		553	0.3	0.1	16	dbSNP_80	45	1658,6698		175,1308,2695	yes	missense	PDIA2	NM_006849.2	56	211,1843,4189	AA,AG,GG		19.842,14.6973,18.1403	benign	185/526	334890	2265,10221	2065	4178	6243	SO:0001583	missense	64714	exon4			CAGGACGAGGACG	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.553G>A	16.37:g.334890G>A	ENSP00000219406:p.Glu185Lys	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	271	0.12408424908424909	93	0.18902439024390244	41	0.1132596685082873	0	0.0	137	0.18073878627968337	g	6.194	0.403887	0.11754	0.146973	0.19842	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.23147	1.92;1.92	3.66	0.305	0.15801	Thioredoxin-like fold (2);	0.433699	0.23706	N	0.045370	T	0.00039	0.0001	M	0.67700	2.07	0.33439	P	0.41782600000000003	B	0.17852	0.024	B	0.24269	0.052	T	0.12400	-1.0549	9	0.36615	T	0.2	.	5.0832	0.14668	0.3036:0.1519:0.5445:0.0	rs419949;rs59217529;rs419949	185	Q13087	PDIA2_HUMAN	K	185;154;182	ENSP00000219406:E185K;ENSP00000384410:E182K	ENSP00000219406:E185K	E	+	1	0	PDIA2	274891	0.006000	0.16342	0.118000	0.21660	0.118000	0.20060	0.523000	0.22925	-0.003000	0.14444	-0.389000	0.06534	GAG	G|0.849;A|0.151	0.151	strong		0.677	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	334890	G	A	334890	3	1	22	1	0	0	0	0	1	0	0	0	11668	1059	37	1	567	1	PDIA2	16	334890	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	310	334890	90019863	7950	13058										
PDIA2	64714	hgsc.bcm.edu	37	chr16	335373	335373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgtttgtcaaccagaCgctggctgcgcaccgggagc	14	13	1	1	rs2685127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:335373C>T	ENST00000219406.6	+	6	875	c.857C>T	c.(856-858)aCg>aTg	p.T286M	PDIA2_ENST00000404312.1_Missense_Mutation_p.T283M|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	286			T -> M (in dbSNP:rs2685127).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GTCAACCAGACGCTGGCTGCG	0.662													c|||	406	0.0810703	0.1679	0.0562	5008	,	,		12621	0.0069		0.1183	False		,,,				2504	0.0194				p.T286M		Atlas-SNP	.											.	PDIA2	51	.	0			c.C857T						PASS	.		MET/THR	587,3477		37,513,1482	35	40	38		857	3.9	0.7	16	dbSNP_100	38	995,7375		70,855,3260	yes	missense	PDIA2	NM_006849.2	81	107,1368,4742	TT,TC,CC		11.8877,14.4439,12.7232	probably-damaging	286/526	335373	1582,10852	2032	4185	6217	SO:0001583	missense	64714	exon6			ACCAGACGCTGGC	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.857C>T	16.37:g.335373C>T	ENSP00000219406:p.Thr286Met	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	119	78	0.655462	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	202	0.0924908424908425	92	0.18699186991869918	23	0.06353591160220995	3	0.005244755244755245	84	0.11081794195250659	c	11.79	1.742809	0.30865	0.144439	0.118877	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14640	2.49;2.49	3.87	3.87	0.44632	Thioredoxin-like fold (1);	0.188317	0.44097	D	0.000499	T	0.00039	0.0001	M	0.61703	1.905	0.24573	P	0.99391392	P	0.51240	0.943	P	0.52386	0.697	T	0.08391	-1.0724	9	0.72032	D	0.01	.	14.7294	0.69368	0.0:1.0:0.0:0.0	rs2685127;rs60535328;rs2685127	286	Q13087	PDIA2_HUMAN	M	286;255;283	ENSP00000219406:T286M;ENSP00000384410:T283M	ENSP00000219406:T286M	T	+	2	0	PDIA2	275374	0.941000	0.31946	0.732000	0.30844	0.062000	0.15995	2.599000	0.46231	2.013000	0.59113	0.486000	0.48141	ACG	C|0.898;T|0.102	0.102	strong		0.662	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		T	335373	C	T	335373	3	4	22	1	0	0	0	0	1	0	0	0	11668	536	19	1	879	1	PDIA2	16	335373	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	483	335373	90019380	7951	13059										
PDIA2	64714	hgsc.bcm.edu	37	chr16	336396	336396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccctgattgggatcagcGgccagttaagaccctcgtgg	12	13	1	2	rs400037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:336396G>A	ENST00000219406.6	+	8	1181	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	PDIA2_ENST00000404312.1_Missense_Mutation_p.R385Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	388	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> Q (in dbSNP:rs400037).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGGATCAGCGGCCAGTTAAG	0.562													g|||	844	0.16853	0.3457	0.1455	5008	,	,		12070	0.0377		0.1899	False		,,,				2504	0.0583				p.R388Q		Atlas-SNP	.											.	PDIA2	51	.	0			c.G1163A						PASS	.		GLN/ARG	1142,2676		163,816,930	58	64	62		1163	-2.3	1	16	dbSNP_80	62	1679,6571		183,1313,2629	yes	missense	PDIA2	NM_006849.2	43	346,2129,3559	AA,AG,GG		20.3515,29.9109,23.3759	benign	388/526	336396	2821,9247	1909	4125	6034	SO:0001583	missense	64714	exon8			ATCAGCGGCCAGT	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1163G>A	16.37:g.336396G>A	ENSP00000219406:p.Arg388Gln	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	207	102	0.492754	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	394	0.1804029304029304	177	0.3597560975609756	51	0.1408839779005525	27	0.0472027972027972	139	0.18337730870712401	g	0.021	-1.423957	0.01126	0.299109	0.203515	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.16897	2.31;2.31;3.97	4.04	-2.31	0.06765	Thioredoxin-like fold (3);	1.119980	0.06633	N	0.759534	T	0.00012	0.0000	N	0.01188	-0.97	0.80722	P	0.0	B	0.12013	0.005	B	0.10450	0.005	T	0.46442	-0.9191	9	0.02654	T	1	.	9.7883	0.40690	0.6167:0.0:0.3833:0.0	rs400037;rs58645006;rs400037	388	Q13087	PDIA2_HUMAN	Q	388;357;385;17	ENSP00000219406:R388Q;ENSP00000384410:R385Q;ENSP00000405081:R17Q	ENSP00000219406:R388Q	R	+	2	0	PDIA2	276397	0.000000	0.05858	0.958000	0.39756	0.812000	0.45895	-0.094000	0.11094	-0.251000	0.09542	0.479000	0.44913	CGG	G|0.810;A|0.190	0.190	strong		0.562	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	336396	G	A	336396	3	1	22	1	0	0	0	0	1	0	0	0	11668	1116	39	1	1193	1	PDIA2	16	336396	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1023	336396	90018357	7952	13060										
AXIN1	8312	hgsc.bcm.edu	37	chr16	347184	347184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcgctcttccccgactcAgccttcttggcatttctttt	7	15	4	0	rs214252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:347184A>G	ENST00000262320.3	-	7	2198	c.1827T>C	c.(1825-1827)gcT>gcC	p.A609A	AXIN1_ENST00000481769.1_5'Flank|AXIN1_ENST00000354866.3_Silent_p.A609A	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	609	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCCCCGACTCAGCCTTCTTGG	0.612													A|||	1048	0.209265	0.4281	0.17	5008	,	,		14273	0.0546		0.2237	False		,,,				2504	0.0859				p.A609A		Atlas-SNP	.											.	AXIN1	290	.	0			c.T1827C						PASS	.	A	,	1696,2710	513.6+/-368.4	325,1046,832	192	187	189		1827,1827	-10.3	0	16	dbSNP_79	189	1958,6642	345.8+/-325.9	232,1494,2574	no	coding-synonymous,coding-synonymous	AXIN1	NM_003502.3,NM_181050.2	,	557,2540,3406	GG,GA,AA		22.7674,38.493,28.0947	,	609/863,609/827	347184	3654,9352	2203	4300	6503	SO:0001819	synonymous_variant	8312	exon7			CGACTCAGCCTTC	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1827T>C	16.37:g.347184A>G		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																			A|0.746;G|0.254	0.254	strong		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			G	347184	A	G	347184	2	3	22	1	0	0	0	0	0	0	0	1	1236	175	7	3		3	AXIN1	16	347184	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10788	347184	90007569	7953	13061										
AXIN1	8312	hgsc.bcm.edu	37	chr16	348222	348222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggccctgggggccctgaCgatggatcgccgtcctcacc	13	17	1	1	rs214250	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:348222C>T	ENST00000262320.3	-	6	1655	c.1284G>A	c.(1282-1284)tcG>tcA	p.S428S	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.S428S	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	428	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.S428S(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGGCCCTGACGATGGATCGC	0.647											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1053	0.210264	0.4304	0.1671	5008	,	,		15375	0.0556		0.2227	False		,,,				2504	0.09				p.S428S		Atlas-SNP	.											AXIN1,cerebellum,primitive_neuroectodermal_tumour-medulloblastoma,0,1	AXIN1	290	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G1284A						PASS	.	G	,	1441,2729		260,921,904	14	6	9		1284,1284	-1.9	0	16	dbSNP_79	9	1635,6563		205,1225,2669	no	coding-synonymous,coding-synonymous	AXIN1	NM_003502.3,NM_181050.2	,	465,2146,3573	TT,TC,CC		19.9439,34.5564,24.8706	,	428/863,428/827	348222	3076,9292	2085	4099	6184	SO:0001819	synonymous_variant	8312	exon6			CCCTGACGATGGA	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1284G>A	16.37:g.348222C>T		Somatic	48	0	0	587	WXS	Illumina HiSeq	Phase_I	39	17	0.435897	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																			C|0.770;T|0.230	0.230	strong		0.647	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			T	348222	C	T	348222	2	4	22	1	0	0	0	0	0	0	0	1	1236	523	19	1		1	AXIN1	16	348222	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1038	348222	90006531	7954	13062										
MRPL28	10573	hgsc.bcm.edu	37	chr16	417691	417691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtcactggccactggctCtcttctgcaccaccgccggc	11	17	3	0	rs114486517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:417691C>G	ENST00000199706.8	-	6	790	c.755G>C	c.(754-756)aGa>aCa	p.R252T	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.R252T	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	252				R -> T (in Ref. 6; AAC50181). {ECO:0000305}.	translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GCCACTGGCTCTCTTCTGCAC	0.617													C|||	327	0.0652955	0.2194	0.0303	5008	,	,		18217	0.0		0.008	False		,,,				2504	0.0082				p.R252T		Atlas-SNP	.											.	MRPL28	15	.	0			c.G755C						PASS	.	C	THR/ARG	811,3595	316.1+/-294.4	77,657,1469	53	48	50		755	-3	0	16	dbSNP_132	50	57,8543	33.3+/-86.6	1,55,4244	yes	missense	MRPL28	NM_006428.4	71	78,712,5713	GG,GC,CC		0.6628,18.4067,6.6738	benign	252/257	417691	868,12138	2203	4300	6503	SO:0001583	missense	10573	exon6			CTGGCTCTCTTCT	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.755G>C	16.37:g.417691C>G	ENSP00000199706:p.Arg252Thr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	134	69	0.514925	NM_006428	B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	ENST00000199706.8	37	CCDS32349.1	109	0.04990842490842491	98	0.1991869918699187	9	0.024861878453038673	0	0.0	2	0.002638522427440633	C	8.839	0.941748	0.18281	0.184067	0.006628	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675	T;T	0.23950	1.88;1.88	4.86	-2.96	0.05547	.	0.400839	0.27000	N	0.021425	T	0.00012	0.0000	L	0.31294	0.92	0.80722	P	0.0	B;B	0.22003	0.063;0.063	B;B	0.15484	0.013;0.013	T	0.23940	-1.0174	9	0.49607	T	0.09	-0.0185	4.4593	0.11659	0.0:0.2928:0.309:0.3982	.	252;252	Q13084;Q4TT38	RM28_HUMAN;.	T	252	ENSP00000199706:R252T;ENSP00000374326:R252T	ENSP00000199706:R252T	R	-	2	0	MRPL28	357692	0.007000	0.16637	0.004000	0.12327	0.779000	0.44077	-0.411000	0.07142	-0.118000	0.11851	0.637000	0.83480	AGA	C|0.937;G|0.063	0.063	strong		0.617	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			G	417691	C	G	417691	3	3	22	1	0	0	0	0	1	0	0	0	9792	913	32	4	19	4	MRPL28	16	417691	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69469	417691	89937062	7955	13063										
WDR90	197335	hgsc.bcm.edu	37	chr16	705795	705795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggcattgccatcagcagCctcagcgtctccccggccat	9	19	3	0	rs12599798	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:705795C>T	ENST00000293879.4	+	17	1872	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.S624S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	624										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCATCAGCAGCCTCAGCGTCT	0.682													C|||	1233	0.246206	0.4123	0.1758	5008	,	,		17229	0.3026		0.1163	False		,,,				2504	0.1472				p.S624S		Atlas-SNP	.											.	WDR90	107	.	0			c.C1872T						PASS	.	C		1492,2804		264,964,920	22	25	24		1872	4.6	1	16	dbSNP_120	24	1094,7372		62,970,3201	no	coding-synonymous	WDR90	NM_145294.4		326,1934,4121	TT,TC,CC		12.9223,34.73,20.2633		624/1749	705795	2586,10176	2148	4233	6381	SO:0001819	synonymous_variant	197335	exon17			CAGCAGCCTCAGC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1872C>T	16.37:g.705795C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																			C|0.785;T|0.215	0.215	strong		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	705795	C	T	705795	2	4	22	1	0	0	0	0	0	0	0	1	17334	738	26	2		2	WDR90	16	705795	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288104	705795	89648958	7956	13064										
WDR90	197335	hgsc.bcm.edu	37	chr16	705844	705844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctctgaggacggcttcTtgcggctctggcccctggac	15	13	3	1	rs8051645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:705844T>C	ENST00000293879.4	+	17	1921	c.1921T>C	c.(1921-1923)Ttg>Ctg	p.L641L	WDR90_ENST00000549091.1_Silent_p.L641L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	641										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGACGGCTTCTTGCGGCTCTG	0.687													C|||	3471	0.693091	0.8616	0.5937	5008	,	,		17245	0.9841		0.3767	False		,,,				2504	0.5613				p.L641L		Atlas-SNP	.											.	WDR90	107	.	0			c.T1921C						PASS	.	C		3319,1005		1297,725,140	26	32	30		1921	1.6	0.1	16	dbSNP_116	30	3044,5470		568,1908,1781	no	coding-synonymous	WDR90	NM_145294.4		1865,2633,1921	CC,CT,TT		35.7529,23.2424,49.5638		641/1749	705844	6363,6475	2162	4257	6419	SO:0001819	synonymous_variant	197335	exon17			GGCTTCTTGCGGC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1921T>C	16.37:g.705844T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	58	28	0.482759	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																			T|0.367;C|0.633	0.633	strong		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		C	705844	T	C	705844	2	2	22	1	0	0	0	0	0	0	0	1	17334	1606	56	3		3	WDR90	16	705844	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49	705844	89648909	7957	13065										
WDR90	197335	hgsc.bcm.edu	37	chr16	709001	709001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctctgggatgtcctggccCctactgagaggcaagtgcct	12	13	1	1	rs4984906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:709001C>A	ENST00000293879.4	+	24	3001	c.3001C>A	c.(3001-3003)Cct>Act	p.P1001T	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.P1001T			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1001			P -> T (in dbSNP:rs4984906). {ECO:0000269|PubMed:14702039}.							endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGTCCTGGCCCCTACTGAGAG	0.647													G|||	3523	0.703474	0.9024	0.6052	5008	,	,		16851	0.9802		0.3718	False		,,,				2504	0.5603				p.P1001T		Atlas-SNP	.											.	WDR90	107	.	0			c.C3001A						PASS	.	G	THR/PRO	3390,816		1376,638,89	81	100	94		3001	-9.6	0	16	dbSNP_111	94	3087,5335		584,1919,1708	yes	missense	WDR90	NM_145294.4	38	1960,2557,1797	AA,AC,CC		36.654,19.4009,48.7092	benign	1001/1749	709001	6477,6151	2103	4211	6314	SO:0001583	missense	197335	exon24			CTGGCCCCTACTG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3001C>A	16.37:g.709001C>A	ENSP00000293879:p.Pro1001Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	1473	0.6744505494505495	430	0.8739837398373984	199	0.5497237569060773	560	0.9790209790209791	284	0.37467018469656993	G	0.007	-1.973176	0.00452	0.805991	0.36654	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.51574	0.7;1.54	4.79	-9.58	0.00559	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	17.628600	0.03178	N	0.171711	T	0.00012	0.0000	N	0.13235	0.315	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25641	-1.0126	9	0.10377	T	0.69	.	6.7898	0.23693	0.1519:0.2458:0.4772:0.1251	rs4984906;rs60133024;rs4984906	1001;1001	F8VUX9;Q96KV7	.;WDR90_HUMAN	T	1001	ENSP00000448122:P1001T;ENSP00000293879:P1001T	ENSP00000293879:P1001T	P	+	1	0	WDR90	649002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.228000	0.02948	-2.099000	0.00849	-3.030000	0.00073	CCT	C|0.379;A|0.621	0.621	strong		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	709001	C	A	709001	3	1	22	1	0	0	0	0	1	0	0	0	17334	623	22	4	3095	4	WDR90	16	709001	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3157	709001	89645752	7958	13066										
WDR90	197335	hgsc.bcm.edu	37	chr16	711712	711712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaacccctgggacgccggCgagctcacctgtgtgggcca	13	15	2	0	rs3177415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:711712C>T	ENST00000293879.4	+	31	3789	c.3789C>T	c.(3787-3789)ggC>ggT	p.G1263G	WDR90_ENST00000549091.1_Silent_p.G1263G			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1263										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGACGCCGGCGAGCTCACCT	0.682													C|||	3497	0.698283	0.8865	0.5951	5008	,	,		16897	0.9841		0.3708	False		,,,				2504	0.5593				p.G1263G		Atlas-SNP	.											.	WDR90	107	.	0			c.C3789T						PASS	.	C		3230,1016		1248,734,141	36	43	41		3789	-5.2	0	16	dbSNP_105	41	2960,5490		548,1864,1813	no	coding-synonymous	WDR90	NM_145294.4		1796,2598,1954	TT,TC,CC		35.0296,23.9284,48.7555		1263/1749	711712	6190,6506	2123	4225	6348	SO:0001819	synonymous_variant	197335	exon31			CGCCGGCGAGCTC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3789C>T	16.37:g.711712C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	50	0.420168	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																			C|0.451;T|0.549	0.549	strong		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	711712	C	T	711712	2	4	22	1	0	0	0	0	0	0	0	1	17334	755	27	1		1	WDR90	16	711712	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2711	711712	89643041	7959	13067										
WDR90	197335	hgsc.bcm.edu	37	chr16	711905	711905	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaggtgcgtcgagagccAgtcccagaggcagtgggggc	18	11	0	2	rs2301426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:711905A>G	ENST00000293879.4	+	32	3879	c.3879A>G	c.(3877-3879)ccA>ccG	p.P1293P	WDR90_ENST00000549091.1_Silent_p.P1293P			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1293										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCGAGAGCCAGTCCCAGAGG	0.637													G|||	3501	0.699081	0.8896	0.5951	5008	,	,		16926	0.9841		0.3708	False		,,,				2504	0.5593				p.P1293P		Atlas-SNP	.											WDR90,NS,carcinoma,0,1	WDR90	107	1	0			c.A3879G						PASS	.	G		3157,973		1218,721,126	81	106	98		3879	-7.3	0	16	dbSNP_100	98	2959,5457		538,1883,1787	yes	coding-synonymous	WDR90	NM_145294.4		1756,2604,1913	GG,GA,AA		35.1592,23.5593,48.7486		1293/1749	711905	6116,6430	2065	4208	6273	SO:0001819	synonymous_variant	197335	exon32			AGAGCCAGTCCCA	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3879A>G	16.37:g.711905A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	82	32	0.390244	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																			A|0.387;G|0.613	0.613	strong		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		G	711905	A	G	711905	2	3	22	1	0	0	0	0	0	0	0	1	17334	175	7	3		3	WDR90	16	711905	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	193	711905	89642848	7960	13068										
WDR90	197335	hgsc.bcm.edu	37	chr16	715990	715990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccccccgtgctgtggccGccctgagcagcagcggctag	15	16	0	1	rs7190775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:715990G>A	ENST00000293879.4	+	36	4475	c.4475G>A	c.(4474-4476)cGc>cAc	p.R1492H	WDR90_ENST00000315764.4_Missense_Mutation_p.R91H|WDR90_ENST00000549091.1_Missense_Mutation_p.R1494H|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.R91H|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1492			R -> H (in dbSNP:rs7190775).							endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCTGTGGCCGCCCTGAGCAG	0.682													G|||	3511	0.701078	0.8865	0.5965	5008	,	,		13104	0.9841		0.3738	False		,,,				2504	0.5695				p.R1492H		Atlas-SNP	.											.	WDR90	107	.	0			c.G4475A						PASS	.	G	HIS/ARG	3019,1047		1139,741,153	27	32	31		4475	-4.8	0	16	dbSNP_116	31	2845,5425		542,1761,1832	no	missense	WDR90	NM_145294.4	29	1681,2502,1985	AA,AG,GG		34.4015,25.7501,47.5357	possibly-damaging	1492/1749	715990	5864,6472	2033	4135	6168	SO:0001583	missense	197335	exon36			GTGGCCGCCCTGA	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4475G>A	16.37:g.715990G>A	ENSP00000293879:p.Arg1492His	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	48	32	0.666667	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	1460	0.6684981684981685	417	0.8475609756097561	198	0.5469613259668509	562	0.9825174825174825	283	0.3733509234828496	G	6.778	0.512413	0.12944	0.742499	0.344015	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.32515	1.66;1.45;3.66;4.04	4.45	-4.83	0.03161	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.961470	0.02062	N	0.050883	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B;B;B;B	0.27140	0.051;0.042;0.025;0.169	B;B;B;B	0.19391	0.019;0.01;0.007;0.025	T	0.41413	-0.9510	9	0.40728	T	0.16	.	1.9117	0.03288	0.3742:0.119:0.3787:0.1281	rs7190775;rs60747281	91;91;91;1492	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	H	1494;1492;91;91	ENSP00000448122:R1494H;ENSP00000293879:R1492H;ENSP00000449576:R91H;ENSP00000322808:R91H	ENSP00000293879:R1492H	R	+	2	0	WDR90	655991	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-1.108000	0.03313	-1.499000	0.01821	-0.218000	0.12543	CGC	G|0.423;A|0.577	0.577	strong		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	715990	G	A	715990	3	1	22	1	0	0	0	0	1	0	0	0	17334	1087	38	1	4617	1	WDR90	16	715990	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4085	715990	89638763	7961	13069										
WDR90	197335	hgsc.bcm.edu	37	chr16	716273	716273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtggctgtgagccaccccTgcacagggacaaccttccgt	11	15	0	1	rs11866949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:716273T>C	ENST00000293879.4	+	37	4663	c.4663T>C	c.(4663-4665)Tgc>Cgc	p.C1555R	WDR90_ENST00000315764.4_Missense_Mutation_p.C154R|WDR90_ENST00000549091.1_Missense_Mutation_p.C1557R|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.C154R|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1555			C -> R (in dbSNP:rs11866949).							endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGCCACCCCTGCACAGGGAC	0.622													C|||	1806	0.360623	0.7927	0.2133	5008	,	,		18164	0.3224		0.1163	False		,,,				2504	0.1718				p.C1555R		Atlas-SNP	.											.	WDR90	107	.	0			c.T4663C						PASS	.	C	ARG/CYS	2575,1497		813,949,274	43	52	49		4663	-3.8	0	16	dbSNP_120	49	1045,7297		58,929,3184	yes	missense	WDR90	NM_145294.4	180	871,1878,3458	CC,CT,TT		12.527,36.7633,29.1606	benign	1555/1749	716273	3620,8794	2036	4171	6207	SO:0001583	missense	197335	exon37			CACCCCTGCACAG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4663T>C	16.37:g.716273T>C	ENSP00000293879:p.Cys1555Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	696	0.31868131868131866	373	0.758130081300813	63	0.17403314917127072	184	0.32167832167832167	76	0.10026385224274406	C	2.766	-0.256870	0.05829	0.632367	0.12527	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.61980	3.57;1.81;0.06;1.84	4.48	-3.8	0.04307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.579510	0.03030	N	0.151901	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.31943	-0.9925	9	0.12430	T	0.62	.	6.6725	0.23076	0.1253:0.3526:0.0:0.5221	rs11866949;rs61157244;rs11866949	154;154;154;1555	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	R	1557;1555;154;154	ENSP00000448122:C1557R;ENSP00000293879:C1555R;ENSP00000449576:C154R;ENSP00000322808:C154R	ENSP00000293879:C1555R	C	+	1	0	WDR90	656274	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.058000	0.03482	-0.600000	0.05790	-1.381000	0.01174	TGC	T|0.694;C|0.306	0.306	strong		0.622	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		C	716273	T	C	716273	3	2	22	1	0	0	0	0	1	0	0	0	17334	1580	55	3	4809	3	WDR90	16	716273	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	283	716273	89638480	7962	13070										
WDR90	197335	hgsc.bcm.edu	37	chr16	716287	716287	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccctgcacagggacaacCttccgtgtgctgagtgacca	10	15	0	2	rs9934288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:716287C>A	ENST00000293879.4	+	37	4677	c.4677C>A	c.(4675-4677)acC>acA	p.T1559T	WDR90_ENST00000315764.4_Silent_p.T158T|WDR90_ENST00000549091.1_Silent_p.T1561T|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Silent_p.T158T|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1559										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CAGGGACAACCTTCCGTGTGC	0.627													C|||	834	0.166534	0.1815	0.1412	5008	,	,		18634	0.3065		0.0765	False		,,,				2504	0.1125				p.T1559T		Atlas-SNP	.											.	WDR90	107	.	0			c.C4677A						PASS	.	C		611,3449		42,527,1461	46	55	52		4677	-1.2	0.3	16	dbSNP_119	52	741,7613		27,687,3463	no	coding-synonymous	WDR90	NM_145294.4		69,1214,4924	AA,AC,CC		8.87,15.0493,10.8909		1559/1749	716287	1352,11062	2030	4177	6207	SO:0001819	synonymous_variant	197335	exon37			GACAACCTTCCGT	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4677C>A	16.37:g.716287C>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	106	51	0.481132	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																			C|0.854;A|0.146	0.146	strong		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	716287	C	A	716287	2	1	22	1	0	0	0	0	0	0	0	1	17334	668	24	4		4	WDR90	16	716287	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	716287	89638466	7963	13071										
WDR90	197335	hgsc.bcm.edu	37	chr16	717523	717523	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctgtgcaggtttacaccGtccgccaggctgctcttcac	9	16	2	0	rs3752493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:717523G>T	ENST00000293879.4	+	41	5181	c.5181G>T	c.(5179-5181)ccG>ccT	p.P1727P	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000549091.1_Silent_p.P1729P|WDR90_ENST00000547944.1_Silent_p.P326P|WDR90_ENST00000315764.4_Silent_p.P278P			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1727										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGTTTACACCGTCCGCCAGGC	0.632													G|||	3507	0.70028	0.8865	0.5951	5008	,	,		19418	0.9841		0.3718	False		,,,				2504	0.5685				p.P1727P		Atlas-SNP	.											WDR90,colon,carcinoma,0,2	WDR90	107	2	0			c.G5181T						PASS	.	G		3323,951		1279,765,93	52	59	57		5181	-9.8	0	16	dbSNP_107	57	3040,5418		539,1962,1728	no	coding-synonymous	WDR90	NM_145294.4		1818,2727,1821	TT,TG,GG		35.9423,22.2508,49.9764		1727/1749	717523	6363,6369	2137	4229	6366	SO:0001819	synonymous_variant	197335	exon41			TACACCGTCCGCC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5181G>T	16.37:g.717523G>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	78	37	0.474359	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1	1460	0.6684981684981685	417	0.8475609756097561	198	0.5469613259668509	562	0.9825174825174825	283	0.3733509234828496	G	3.719	-0.057914	0.07317	0.777492	0.359423	ENSG00000161996	ENST00000546896	.	.	.	4.9	-9.79	0.00494	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22610	P	0.99893303	.	.	.	.	.	.	T	0.30149	-0.9988	4	0.87932	D	0	.	4.9016	0.13777	0.4854:0.2194:0.2216:0.0735	rs3752493;rs61206807;rs3752493	.	.	.	L	30	.	ENSP00000447915:R30L	R	+	2	0	WDR90	657524	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-4.993000	0.00162	-3.261000	0.00202	-1.065000	0.02276	CGT	G|0.369;T|0.631	0.631	strong		0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	717523	G	T	717523	2	4	22	1	0	0	0	0	0	0	0	1	17334	1132	40	4		4	WDR90	16	717523	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1236	717523	89637230	7964	13072										
WDR90	197335	hgsc.bcm.edu	37	chr16	717544	717544	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgccaggctgctcttcacGgccgcccgcaacgagatcct	10	18	2	1	rs3752492	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:717544G>C	ENST00000293879.4	+	41	5202	c.5202G>C	c.(5200-5202)acG>acC	p.T1734T	WDR90_ENST00000315764.4_Silent_p.T285T|WDR90_ENST00000549091.1_Silent_p.T1736T|WDR90_ENST00000547944.1_Silent_p.T333T|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1734										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCTCTTCACGGCCGCCCGCA	0.647													G|||	1528	0.305112	0.6188	0.1931	5008	,	,		18687	0.3125		0.1153	False		,,,				2504	0.1483				p.T1734T		Atlas-SNP	.											.	WDR90	107	.	0			c.G5202C						PASS	.	G		2112,2106		537,1038,534	47	53	51		5202	-9.8	0	16	dbSNP_107	51	1058,7384		59,940,3222	no	coding-synonymous	WDR90	NM_145294.4		596,1978,3756	CC,CG,GG		12.5326,49.9289,25.0395		1734/1749	717544	3170,9490	2109	4221	6330	SO:0001819	synonymous_variant	197335	exon41			CTTCACGGCCGCC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5202G>C	16.37:g.717544G>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1	602	0.27564102564102566	293	0.5955284552845529	55	0.15193370165745856	179	0.3129370629370629	75	0.09894459102902374	G	1.877	-0.458827	0.04508	0.500711	0.125326	ENSG00000161996	ENST00000546896	.	.	.	4.9	-9.79	0.00494	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999985302	.	.	.	.	.	.	T	0.39542	-0.9609	4	0.87932	D	0	.	14.463	0.67465	0.1135:0.396:0.4905:0.0	rs3752492;rs3752492	.	.	.	P	37	.	ENSP00000447915:R37P	R	+	2	0	WDR90	657545	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-4.331000	0.00251	-4.010000	0.00082	-1.168000	0.01747	CGG	G|0.777;C|0.223;A|0.001	0.223	strong		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		C	717544	G	C	717544	2	2	22	1	0	0	0	0	0	0	0	1	17334	1103	39	4		4	WDR90	16	717544	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21	717544	89637209	7965	13073										
RHOT2	89941	hgsc.bcm.edu	37	chr16	719592	719592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtatgacgtctctgaggagGccaccattgagaaggtgagc	14	8	1	4	rs11557858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:719592G>A	ENST00000315082.4	+	5	376	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	88	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CTCTGAGGAGGCCACCATTGA	0.622													G|||	1387	0.276957	0.5348	0.1801	5008	,	,		18724	0.2946		0.1153	False		,,,				2504	0.1452				p.A88T		Atlas-SNP	.											.	RHOT2	35	.	0			c.G262A						PASS	.	G	THR/ALA	2063,2333	566.1+/-381.8	477,1109,612	156	102	121		262	-1.1	0.8	16	dbSNP_120	121	1092,7502	227.2+/-262.7	63,966,3268	yes	missense	RHOT2	NM_138769.1	58	540,2075,3880	AA,AG,GG		12.7065,46.929,24.2879	benign	88/619	719592	3155,9835	2198	4297	6495	SO:0001583	missense	89941	exon5			GAGGAGGCCACCA	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.262G>A	16.37:g.719592G>A	ENSP00000321971:p.Ala88Thr	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	552	0.25274725274725274	259	0.5264227642276422	48	0.13259668508287292	169	0.29545454545454547	76	0.10026385224274406	G	8.543	0.873637	0.17322	0.46929	0.127065	ENSG00000140983	ENST00000315082	T	0.76968	-1.06	5.07	-1.08	0.09936	MIRO (1);	0.589164	0.18158	N	0.149874	T	0.00012	0.0000	N	0.05608	-0.01	0.51233	P	8.399999999997299E-5	B	0.06786	0.001	B	0.12837	0.008	T	0.43507	-0.9387	9	0.13853	T	0.58	-5.7558	6.5124	0.22228	0.3047:0.0:0.5681:0.1272	rs11557858;rs28637938	88	Q8IXI1	MIRO2_HUMAN	T	88	ENSP00000321971:A88T	ENSP00000321971:A88T	A	+	1	0	RHOT2	659593	0.026000	0.19158	0.822000	0.32727	0.564000	0.35744	0.433000	0.21477	0.169000	0.19679	0.555000	0.69702	GCC	G|0.760;A|0.240	0.240	strong		0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		A	719592	G	A	719592	3	1	22	1	0	0	0	0	1	0	0	0	13344	1203	42	2	280	2	RHOT2	16	719592	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2048	719592	89635161	7966	13074										
RHOT2	89941	hgsc.bcm.edu	37	chr16	720152	720152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtggatcccactggtgaaTggggggaccacgcaggggcc	17	10	0	1	rs3752487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:720152T>C	ENST00000315082.4	+	6	420	c.306T>C	c.(304-306)aaT>aaC	p.N102N	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	102	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CACTGGTGAATGGGGGGACCA	0.632													T|||	887	0.177117	0.2307	0.1484	5008	,	,		18540	0.2887		0.0795	False		,,,				2504	0.1104				p.N102N		Atlas-SNP	.											.	RHOT2	35	.	0			c.T306C						PASS	.	T		908,3486	341.0+/-306.5	94,720,1383	39	42	41		306	2.8	1	16	dbSNP_107	41	784,7812	182.8+/-231.1	32,720,3546	no	coding-synonymous	RHOT2	NM_138769.1		126,1440,4929	CC,CT,TT		9.1205,20.6645,13.0254		102/619	720152	1692,11298	2197	4298	6495	SO:0001819	synonymous_variant	89941	exon6			GGTGAATGGGGGG	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.306T>C	16.37:g.720152T>C		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	52	29	0.557692	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																			T|0.850;C|0.150	0.150	strong		0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		C	720152	T	C	720152	2	2	22	1	0	0	0	0	0	0	0	1	13344	1461	51	2		2	RHOT2	16	720152	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	560	720152	89634601	7967	13075										
RHOT2	89941	hgsc.bcm.edu	37	chr16	720960	720960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacggtggtgtgcaggaaCgtggcgggcggcgtgcggga	22	7	0	1	rs3743912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:720960C>T	ENST00000315082.4	+	10	822	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	236					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGTGCAGGAACGTGGCGGGCG	0.692													C|||	1070	0.213658	0.3124	0.1614	5008	,	,		8514	0.3036		0.1054	False		,,,				2504	0.136				p.N236N		Atlas-SNP	.											.	RHOT2	35	.	0			c.C708T						PASS	.	C		1159,3225	371.0+/-319.8	154,851,1187	27	30	29		708	-7.7	0.4	16	dbSNP_107	29	1030,7552	205.5+/-247.9	54,922,3315	no	coding-synonymous	RHOT2	NM_138769.1		208,1773,4502	TT,TC,CC		12.0019,26.437,16.8826		236/619	720960	2189,10777	2192	4291	6483	SO:0001819	synonymous_variant	89941	exon10			CAGGAACGTGGCG	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.708C>T	16.37:g.720960C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	36	21	0.583333	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																			C|0.824;T|0.176	0.176	strong		0.692	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		T	720960	C	T	720960	2	4	22	1	0	0	0	0	0	0	0	1	13344	535	19	1		1	RHOT2	16	720960	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	808	720960	89633793	7968	13076										
RHOT2	89941	hgsc.bcm.edu	37	chr16	722331	722331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcaaggtggtaggggccCgtggagtgggcaagtctgcc	19	8	1	0	rs3177338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:722331C>T	ENST00000315082.4	+	15	1387	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	425	Miro 2.		R -> C (in dbSNP:rs3177338). {ECO:0000269|PubMed:12482879}.		cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GGTAGGGGCCCGTGGAGTGGG	0.657													C|||	3348	0.66853	0.7821	0.5706	5008	,	,		18089	0.9891		0.3787	False		,,,				2504	0.5521				p.R425C		Atlas-SNP	.											.	RHOT2	35	.	0			c.C1273T						PASS	.	C	CYS/ARG	3138,1256	683.9+/-404.3	1132,874,191	51	53	53		1273	4.1	0.3	16	dbSNP_105	53	3058,5532	459.9+/-365.0	556,1946,1793	yes	missense	RHOT2	NM_138769.1	180	1688,2820,1984	TT,TC,CC		35.5995,28.5844,47.7203	probably-damaging	425/619	722331	6196,6788	2197	4295	6492	SO:0001583	missense	89941	exon15			GGGGCCCGTGGAG	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1273C>T	16.37:g.722331C>T	ENSP00000321971:p.Arg425Cys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	1421	0.6506410256410257	377	0.766260162601626	189	0.5220994475138122	567	0.9912587412587412	288	0.37994722955145116	C	15.75	2.924253	0.52653	0.714156	0.355995	ENSG00000140983	ENST00000315082	T	0.66815	-0.23	5.1	4.12	0.48240	Mitochondrial Rho-like (1);MIRO (1);	0.308380	0.35151	N	0.003413	T	0.00012	0.0000	M	0.87180	2.865	0.09310	P	0.9999999901694	D	0.69078	0.997	P	0.61722	0.893	T	0.05989	-1.0852	9	0.87932	D	0	-12.9004	9.9376	0.41561	0.156:0.6931:0.1509:0.0	rs3177338;rs3830143;rs59724834	425	Q8IXI1	MIRO2_HUMAN	C	425	ENSP00000321971:R425C	ENSP00000321971:R425C	R	+	1	0	RHOT2	662332	0.003000	0.15002	0.328000	0.25416	0.075000	0.17131	1.309000	0.33539	1.103000	0.41568	0.462000	0.41574	CGT	C|0.469;T|0.531	0.531	strong		0.657	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		T	722331	C	T	722331	3	4	22	1	0	0	0	0	1	0	0	0	13344	652	23	1	1331	1	RHOT2	16	722331	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1371	722331	89632422	7969	13077										
RHOT2	89941	hgsc.bcm.edu	37	chr16	722548	722548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacggtgcaggtcaatggAcaggagaagtacttgatcgt	14	7	1	2	rs1128550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:722548A>G	ENST00000315082.4	+	16	1500	c.1386A>G	c.(1384-1386)ggA>ggG	p.G462G		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	462	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGGTCAATGGACAGGAGAAGT	0.667													G|||	3554	0.709665	0.9054	0.5908	5008	,	,		18572	0.997		0.3797	False		,,,				2504	0.5726				p.G462G		Atlas-SNP	.											RHOT2,NS,carcinoma,0,1	RHOT2	35	1	0			c.A1386G						scavenged	.	G		3543,853	321.3+/-297.0	1429,685,84	54	64	60		1386	-2.1	0.2	16	dbSNP_86	60	3063,5529	651.2+/-400.8	556,1951,1789	no	coding-synonymous	RHOT2	NM_138769.1		1985,2636,1873	GG,GA,AA		35.6494,19.404,49.1377		462/619	722548	6606,6382	2198	4296	6494	SO:0001819	synonymous_variant	89941	exon16			CAATGGACAGGAG	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1386A>G	16.37:g.722548A>G		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																			A|0.452;G|0.548	0.548	strong		0.667	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		G	722548	A	G	722548	2	3	22	1	0	0	0	0	0	0	0	1	13344	262	10	2		2	RHOT2	16	722548	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	217	722548	89632205	7970	13078										
MSLN	10232	hgsc.bcm.edu	37	chr16	814058	814058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actccttggcttcccgtgtgCggaggtgtccggcctgagca	14	13	0	1	rs9927389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:814058C>T	ENST00000382862.3	+	5	310	c.215C>T	c.(214-216)gCg>gTg	p.A72V	MSLN_ENST00000566549.1_Missense_Mutation_p.A72V|MSLN_ENST00000545450.2_Missense_Mutation_p.A72V|MSLN_ENST00000563941.1_Missense_Mutation_p.A72V	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	72			A -> V (in dbSNP:rs9927389).		cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TTCCCGTGTGCGGAGGTGTCC	0.647													C|||	464	0.0926518	0.1422	0.0375	5008	,	,		13653	0.0367		0.0179	False		,,,				2504	0.1994				p.A72V		Atlas-SNP	.											MSLN_ENST00000446427,NS,carcinoma,0,2	MSLN	109	2	0			c.C215T						scavenged	.	C	VAL/ALA,VAL/ALA,VAL/ALA	498,3886	224.9+/-240.9	25,448,1719	53	43	46		215,215,215	-1.8	0	16	dbSNP_119	46	177,8401	79.8+/-142.4	3,171,4115	yes	missense,missense,missense	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	64,64,64	28,619,5834	TT,TC,CC		2.0634,11.3595,5.2075	benign,benign,benign	72/623,72/623,72/631	814058	675,12287	2192	4289	6481	SO:0001583	missense	10232	exon6			CGTGTGCGGAGGT	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.215C>T	16.37:g.814058C>T	ENSP00000372313:p.Ala72Val	Somatic	50	1	0.02		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_005823	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	108	0.04945054945054945	59	0.11991869918699187	14	0.03867403314917127	24	0.04195804195804196	11	0.014511873350923483	C	4.746	0.138663	0.09083	0.113595	0.020634	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12569	2.67;2.67	2.72	-1.81	0.07882	.	2.331450	0.02832	N	0.126889	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17465	0.007;0.015;0.022;0.007	B;B;B;B	0.11329	0.003;0.006;0.003;0.003	T	0.33137	-0.9880	10	0.31617	T	0.26	0.2519	5.264	0.15589	0.4048:0.4736:0.0:0.1216	rs9927389;rs9927389	71;72;72;72	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	V	72	ENSP00000442965:A72V;ENSP00000372313:A72V	ENSP00000372313:A72V	A	+	2	0	MSLN	754059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.582000	0.00905	-1.484000	0.01856	-2.388000	0.00228	GCG	C|0.941;T|0.059	0.059	strong		0.647	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			T	814058	C	T	814058	3	4	22	1	0	0	0	0	1	0	0	0	9881	768	27	1	229	1	MSLN	16	814058	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91510	814058	89540695	7971	13079										
MSLN	10232	hgsc.bcm.edu	37	chr16	815593	815593	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgcccgtgctgggccaGcccatcatccgcagcatccc	10	19	1	0	rs115279916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:815593G>C	ENST00000382862.3	+	9	866	c.771G>C	c.(769-771)caG>caC	p.Q257H	MSLN_ENST00000566549.1_Missense_Mutation_p.Q257H|MSLN_ENST00000545450.2_Missense_Mutation_p.Q257H|MSLN_ENST00000563941.1_Missense_Mutation_p.Q257H	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	257					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGCTGGGCCAGCCCATCATCC	0.706													G|||	81	0.0161741	0.059	0.0043	5008	,	,		14281	0.0		0.0	False		,,,				2504	0.0				p.Q257H		Atlas-SNP	.											.	MSLN	109	.	0			c.G771C						PASS	.	G	HIS/GLN,HIS/GLN,HIS/GLN	207,4145	119.2+/-156.9	5,197,1974	31	32	32		771,771,771	1	0	16	dbSNP_132	32	1,8569	1.2+/-3.3	0,1,4284	yes	missense,missense,missense	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	24,24,24	5,198,6258	CC,CG,GG		0.0117,4.7564,1.6097	benign,benign,benign	257/623,257/623,257/631	815593	208,12714	2176	4285	6461	SO:0001583	missense	10232	exon10			GGGCCAGCCCATC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.771G>C	16.37:g.815593G>C	ENSP00000372313:p.Gln257His	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	117	65	0.555556	NM_005823	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	G	2.785	-0.252545	0.05829	0.047564	1.17E-4	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12569	2.67;2.67	3.03	1.03	0.20045	.	1.781050	0.03402	N	0.203448	T	0.01489	0.0048	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.15141	0.007;0.008;0.012;0.007	B;B;B;B	0.12156	0.004;0.007;0.007;0.004	T	0.30119	-0.9989	10	0.39692	T	0.17	-0.1169	4.9829	0.14175	0.2994:0.0:0.7006:0.0	.	256;257;257;257	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	H	257	ENSP00000442965:Q257H;ENSP00000372313:Q257H	ENSP00000372313:Q257H	Q	+	3	2	MSLN	755594	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.687000	0.25407	0.060000	0.16281	-0.271000	0.10264	CAG	G|0.985;C|0.015	0.015	strong		0.706	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			C	815593	G	C	815593	3	2	22	1	0	0	0	0	1	0	0	0	9881	962	34	4	801	4	MSLN	16	815593	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1535	815593	89539160	7972	13080										
MSLN	10232	hgsc.bcm.edu	37	chr16	816973	816973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttgctttccagaacatgAacgggtccgaatacttcgtg	10	11	0	2	rs35317722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:816973A>G	ENST00000382862.3	+	14	1581	c.1486A>G	c.(1486-1488)Aac>Gac	p.N496D	MSLN_ENST00000566549.1_Missense_Mutation_p.N488D|MSLN_ENST00000545450.2_Missense_Mutation_p.N488D|MSLN_ENST00000563941.1_Missense_Mutation_p.N488D	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	496					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCAGAACATGAACGGGTCCGA	0.627													A|||	151	0.0301518	0.1104	0.0072	5008	,	,		18480	0.0		0.0	False		,,,				2504	0.0				p.N496D		Atlas-SNP	.											.	MSLN	109	.	0			c.A1486G						PASS	.	A	ASP/ASN,ASP/ASN,ASP/ASN	341,4039	175.5+/-204.9	19,303,1868	79	80	79		1462,1462,1486	-0.5	0	16	dbSNP_126	79	3,8581	3.0+/-9.4	0,3,4289	yes	missense,missense,missense	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	23,23,23	19,306,6157	GG,GA,AA		0.0349,7.7854,2.6535	benign,benign,benign	488/623,488/623,496/631	816973	344,12620	2190	4292	6482	SO:0001583	missense	10232	exon14			AACATGAACGGGT	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1486A>G	16.37:g.816973A>G	ENSP00000372313:p.Asn496Asp	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	77	38	0.493506	NM_013404	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	66	0.03021978021978022	63	0.12804878048780488	3	0.008287292817679558	0	0.0	0	0.0	A	5.121	0.207947	0.09704	0.077854	3.49E-4	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12039	2.72;2.72	5.13	-0.498	0.12019	.	0.811867	0.11375	N	0.570445	T	0.00073	0.0002	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.15719	0.004;0.009;0.014;0.004	B;B;B;B	0.13407	0.005;0.009;0.005;0.005	T	0.44620	-0.9316	10	0.11485	T	0.65	-15.2008	5.1406	0.14957	0.4492:0.2783:0.0:0.2724	rs35317722	487;496;488;488	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	D	496;488;488;496	ENSP00000442965:N488D;ENSP00000372313:N496D	ENSP00000372313:N496D	N	+	1	0	MSLN	756974	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.121000	0.15667	0.222000	0.20900	0.443000	0.29094	AAC	A|0.970;G|0.030	0.030	strong		0.627	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			G	816973	A	G	816973	3	3	22	1	0	0	0	0	1	0	0	0	9881	246	9	2	1536	2	MSLN	16	816973	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1380	816973	89537780	7973	13081										
RPUSD1	113000	hgsc.bcm.edu	37	chr16	836111	836111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctatcctcggggtcagGgtcgggggtggcccgtaagg	18	12	1	0	rs112366818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:836111G>T	ENST00000561734.1	-	5	1021	c.778C>A	c.(778-780)Cct>Act	p.P260T	MSLNL_ENST00000442466.1_5'Flank|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_Missense_Mutation_p.P131T|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.P260T			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	260	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TCGGGGTCAGGGTCGGGGGTG	0.721													G|||	227	0.0453275	0.1641	0.0115	5008	,	,		13109	0.0		0.002	False		,,,				2504	0.0				p.P260T		Atlas-SNP	.											.	RPUSD1	19	.	0			c.C778A						PASS	.	G	THR/PRO	471,3899		25,421,1739	18	24	22		778	4.2	1	16	dbSNP_132	22	3,8555		0,3,4276	yes	missense	RPUSD1	NM_058192.2	38	25,424,6015	TT,TG,GG		0.0351,10.778,3.6665	possibly-damaging	260/313	836111	474,12454	2185	4279	6464	SO:0001583	missense	113000	exon6			GGTCAGGGTCGGG	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.778C>A	16.37:g.836111G>T	ENSP00000455026:p.Pro260Thr	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	72	71	0.986111	NM_058192	D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	CCDS10426.1	79	0.036172161172161175	75	0.1524390243902439	4	0.011049723756906077	0	0.0	0	0.0	G	10.09	1.256160	0.22965	0.10778	3.51E-4	ENSG00000007376	ENST00000007264	T	0.16743	2.32	4.21	4.21	0.49690	.	0.832292	0.11055	N	0.604570	T	0.00109	0.0003	L	0.44542	1.39	0.20703	N	0.999863	P	0.52316	0.952	P	0.45998	0.5	T	0.08554	-1.0716	10	0.72032	D	0.01	-9.908	12.1354	0.53968	0.0:0.0:1.0:0.0	.	260	Q9UJJ7	RUSD1_HUMAN	T	260	ENSP00000007264:P260T	ENSP00000007264:P260T	P	-	1	0	RPUSD1	776112	0.991000	0.36638	0.987000	0.45799	0.161000	0.22273	2.137000	0.42130	1.920000	0.55613	0.456000	0.33151	CCT	G|0.962;T|0.038	0.038	strong		0.721	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		T	836111	G	T	836111	3	4	22	1	0	0	0	0	1	0	0	0	13666	1232	43	4	164	4	RPUSD1	16	836111	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19138	836111	89518642	7974	13082										
CHTF18	63922	hgsc.bcm.edu	37	chr16	842972	842972	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttctccaccaggtctccCtgcggcagggcatgagggcc	12	17	2	1	rs534605273		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:842972C>G	ENST00000262315.9	+	13	1642	c.1579C>G	c.(1579-1581)Ctg>Gtg	p.L527V	CHTF18_ENST00000317063.6_Intron|CHTF18_ENST00000455171.2_Missense_Mutation_p.L555V	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	527					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCAGGTCTCCCTGCGGCAGGG	0.657													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14564	0.0		0.0	False		,,,				2504	0.0				p.L527V		Atlas-SNP	.											.	CHTF18	52	.	0			c.C1579G						PASS	.						9	12	11					16																	842972		1892	4037	5929	SO:0001583	missense	63922	exon13			GTCTCCCTGCGGC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1579C>G	16.37:g.842972C>G	ENSP00000262315:p.Leu527Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	c	2.016	-0.425888	0.04701	.	.	ENSG00000127586	ENST00000455171;ENST00000262315	T;T	0.17370	2.28;2.28	4.9	0.103	0.14526	.	.	.	.	.	T	0.09949	0.0244	L	0.38838	1.175	0.25065	N	0.991037	B;B	0.29909	0.261;0.172	B;B	0.26202	0.067;0.03	T	0.31251	-0.9950	9	0.31617	T	0.26	.	1.2554	0.01990	0.1656:0.3096:0.3219:0.2029	.	555;527	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	V	555;527	ENSP00000406252:L555V;ENSP00000262315:L527V	ENSP00000262315:L527V	L	+	1	2	CHTF18	782973	0.000000	0.05858	0.502000	0.27614	0.443000	0.32047	-0.035000	0.12205	0.474000	0.27392	0.556000	0.70494	CTG	.	.	none		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	842972	C	G	842972	3	3	22	1	0	0	0	0	1	0	0	0	3414	680	24	4	1629	4	CHTF18	16	842972	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6861	842972	89511781	7975	13083										
CHTF18	63922	hgsc.bcm.edu	37	chr16	845819	845819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctcctggacattcttgcAcccaagctccgccccgtgag	9	17	1	1	rs2294446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:845819A>G	ENST00000262315.9	+	17	2373	c.2310A>G	c.(2308-2310)gcA>gcG	p.A770A	CHTF18_ENST00000317063.6_Silent_p.A979A|CHTF18_ENST00000455171.2_Silent_p.A798A	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	770					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				ACATTCTTGCACCCAAGCTCC	0.687													N|||	988	0.197284	0.357	0.0865	5008	,	,		11945	0.1012		0.0169	False		,,,				2504	0.3446				p.A770A		Atlas-SNP	.											.	CHTF18	52	.	0			c.A2310G						PASS	.			1164,3060		143,878,1091	18	26	24		2310	-8.4	0	16	dbSNP_100	24	179,8245		1,177,4034	yes	coding-synonymous	CHTF18	NM_022092.2		144,1055,5125	GG,GA,AA		2.1249,27.5568,10.6183		770/976	845819	1343,11305	2112	4212	6324	SO:0001819	synonymous_variant	63922	exon17			TCTTGCACCCAAG	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2310A>G	16.37:g.845819A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1																																																																																			A|0.862;G|0.138	0.138	strong		0.687	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	845819	A	G	845819	2	3	22	1	0	0	0	0	0	0	0	1	3414	146	6	2		2	CHTF18	16	845819	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2847	845819	89508934	7976	13084										
CHTF18	63922	hgsc.bcm.edu	37	chr16	846012	846012	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctggtgggcacgatgctCgcttacagcctgacctaccg	12	14	0	1	rs114461038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:846012C>T	ENST00000262315.9	+	18	2454	c.2391C>T	c.(2389-2391)ctC>ctT	p.L797L	CHTF18_ENST00000317063.6_Silent_p.L1006L|CHTF18_ENST00000455171.2_Silent_p.L825L	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	797					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GCACGATGCTCGCTTACAGCC	0.642													c|||	89	0.0177716	0.0643	0.0058	5008	,	,		14732	0.0		0.0	False		,,,				2504	0.0				p.L797L		Atlas-SNP	.											.	CHTF18	52	.	0			c.C2391T						PASS	.			175,4107		8,159,1974	29	36	34		2391	-8.6	0.6	16	dbSNP_132	34	3,8505		0,3,4251	no	coding-synonymous	CHTF18	NM_022092.2		8,162,6225	TT,TC,CC		0.0353,4.0869,1.3917		797/976	846012	178,12612	2141	4254	6395	SO:0001819	synonymous_variant	63922	exon18			GATGCTCGCTTAC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2391C>T	16.37:g.846012C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1																																																																																			C|0.979;T|0.021	0.021	strong		0.642	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		T	846012	C	T	846012	2	4	22	1	0	0	0	0	0	0	0	1	3414	871	31	1		1	CHTF18	16	846012	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193	846012	89508741	7977	13085										
PRR25	388199	hgsc.bcm.edu	37	chr16	855732	855732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaccagctcaggaacagCgcagccgctcgcaaatgcag	10	16	1	0	rs115484509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:855732C>T	ENST00000301698.1	+	1	290	c.290C>T	c.(289-291)gCg>gTg	p.A97V		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	97										large_intestine(1)|lung(1)|skin(1)	3						TCAGGAACAGCGCAGCCGCTC	0.652													C|||	129	0.0257588	0.0938	0.0072	5008	,	,		17511	0.0		0.0	False		,,,				2504	0.0				p.A97V		Atlas-SNP	.											PRR25,NS,carcinoma,+1,1	PRR25	27	1	0			c.C290T						PASS	.	C	VAL/ALA	307,3571		16,275,1648	21	28	26		290	-0.5	0	16	dbSNP_132	26	1,8279		0,1,4139	yes	missense	PRR25	NM_001013638.1	64	16,276,5787	TT,TC,CC		0.0121,7.9165,2.5333	possibly-damaging	97/403	855732	308,11850	1939	4140	6079	SO:0001583	missense	388199	exon1			GAACAGCGCAGCC	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.290C>T	16.37:g.855732C>T	ENSP00000301698:p.Ala97Val	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_001013638		Missense_Mutation	SNP	ENST00000301698.1	37	CCDS45372.1	44	0.020146520146520148	41	0.08333333333333333	3	0.008287292817679558	0	0.0	0	0.0	C	8.111	0.778895	0.16120	0.079165	1.21E-4	ENSG00000167945	ENST00000301698	T	0.38401	1.14	0.701	-0.467	0.12150	.	.	.	.	.	T	0.00815	0.0027	N	0.19112	0.55	0.09310	N	1	P	0.39964	0.697	B	0.29440	0.102	T	0.07121	-1.0789	8	0.87932	D	0	.	.	.	.	.	97	Q96S07	PRR25_HUMAN	V	97	ENSP00000301698:A97V	ENSP00000301698:A97V	A	+	2	0	PRR25	795733	0.000000	0.05858	0.013000	0.15412	0.030000	0.12068	-0.594000	0.05733	-0.199000	0.10317	0.313000	0.20887	GCG	C|0.977;T|0.023	0.023	strong		0.652	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		T	855732	C	T	855732	3	4	22	1	0	0	0	0	1	0	0	0	12597	768	27	1	292	1	PRR25	16	855732	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9720	855732	89499021	7978	13086										
PRR25	388199	hgsc.bcm.edu	37	chr16	863336	863336	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacagacatcccctctgcTattgctgcgggaccggcaag	11	15	1	1	rs11860086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:863336T>C	ENST00000301698.1	+	3	684	c.684T>C	c.(682-684)gcT>gcC	p.A228A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	228										large_intestine(1)|lung(1)|skin(1)	3						TCCCCTCTGCTATTGCTGCGG	0.726													C|||	1984	0.396166	0.8442	0.3473	5008	,	,		13095	0.245		0.1064	False		,,,				2504	0.2791				p.A228A		Atlas-SNP	.											.	PRR25	27	.	0			c.T684C						PASS	.	C		2629,1401		879,871,265	10	12	11		684	0.2	0	16	dbSNP_120	11	864,7408		53,758,3325	no	coding-synonymous	PRR25	NM_001013638.1		932,1629,3590	CC,CT,TT		10.4449,34.7643,28.3938		228/403	863336	3493,8809	2015	4136	6151	SO:0001819	synonymous_variant	388199	exon3			CTCTGCTATTGCT	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.684T>C	16.37:g.863336T>C		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	29	29	1	NM_001013638		Silent	SNP	ENST00000301698.1	37	CCDS45372.1																																																																																			T|0.671;C|0.329	0.329	strong		0.726	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		C	863336	T	C	863336	2	2	22	1	0	0	0	0	0	0	0	1	12597	1509	53	3		3	PRR25	16	863336	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7604	863336	89491417	7979	13087										
LMF1	64788	hgsc.bcm.edu	37	chr16	929606	929606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccccgtggatgatgcaCgcccgccggccgaggaagag	15	14	0	2	rs61740409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:929606C>T	ENST00000262301.11	-	6	879	c.861G>A	c.(859-861)gcG>gcA	p.A287A	LMF1_ENST00000543238.1_Silent_p.A50A|LMF1_ENST00000568897.1_Silent_p.A70A|LMF1_ENST00000399843.2_Silent_p.A287A|LMF1_ENST00000568268.1_5'UTR	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	287					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGATGATGCACGCCCGCCGGC	0.657													C|||	369	0.0736821	0.1868	0.0346	5008	,	,		15136	0.0179		0.002	False		,,,				2504	0.0798				p.A287A		Atlas-SNP	.											.	LMF1	42	.	0			c.G861A						PASS	.	C		608,3588		38,532,1528	48	59	56		861	3	0	16	dbSNP_129	56	5,8419		0,5,4207	no	coding-synonymous	LMF1	NM_022773.2		38,537,5735	TT,TC,CC		0.0594,14.49,4.8574		287/568	929606	613,12007	2098	4212	6310	SO:0001819	synonymous_variant	64788	exon6			GATGCACGCCCGC	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.861G>A	16.37:g.929606C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	162	160	0.987654	NM_022773	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	CCDS45373.1																																																																																			C|0.940;T|0.060	0.060	strong		0.657	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		T	929606	C	T	929606	2	4	22	1	0	0	0	0	0	0	0	1	8845	523	19	1		1	LMF1	16	929606	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66270	929606	89425147	7980	13088										
LMF1	64788	hgsc.bcm.edu	37	chr16	961051	961051	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaggaagatccccaggaaCcccgtctccagaagctggga					rs2277893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:961051C>T	ENST00000262301.11	-	4	561	c.543G>A	c.(541-543)ggG>ggA	p.G181G	LMF1_ENST00000543238.1_Intron|LMF1_ENST00000539379.1_3'UTR|LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000399843.2_Silent_p.G181G	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	181					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.G181G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TCCCCAGGAACCCCGTCTCCA	0.532													C|||	1913	0.381989	0.5613	0.3631	5008	,	,		16735	0.3056		0.1769	False		,,,				2504	0.4427				p.G181G		Atlas-SNP	.											LMF1,NS,carcinoma,0,1	LMF1	42	1	1	Substitution - coding silent(1)	stomach(1)	c.G543A						PASS	.	C		1896,2084		473,950,567	46	52	50		543	-9.1	0.5	16	dbSNP_100	50	1512,6772		140,1232,2770	no	coding-synonymous	LMF1	NM_022773.2		613,2182,3337	TT,TC,CC		18.2521,47.6382,27.7886		181/568	961051	3408,8856	1990	4142	6132	SO:0001819	synonymous_variant	64788	exon4			CAGGAACCCCGTC	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.543G>A	16.37:g.961051C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_022773	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	CCDS45373.1																																																																																			C|0.748;T|0.252	0.252	strong		0.532	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		T	961051	C	T	961051	2	4	22	1	0	0	0	0	0	0	0	1	8845	494	18	2		2	LMF1	16	961051	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31445	961051	89393702	7981	13089	271	2								
LMF1	64788	hgsc.bcm.edu	37	chr16	961054	961054	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagatccccaggaacccCgtctccagaagctgggactc					rs2277892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:961054C>T	ENST00000262301.11	-	4	558	c.540G>A	c.(538-540)acG>acA	p.T180T	LMF1_ENST00000543238.1_Intron|LMF1_ENST00000539379.1_3'UTR|LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000399843.2_Silent_p.T180T	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	180					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T180T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CCAGGAACCCCGTCTCCAGAA	0.532													C|||	1255	0.250599	0.4107	0.2421	5008	,	,		16912	0.244		0.0924	False		,,,				2504	0.2096				p.T180T		Atlas-SNP	.											LMF1,NS,carcinoma,0,1	LMF1	42	1	1	Substitution - coding silent(1)	stomach(1)	c.G540A						PASS	.	C		1382,2584		228,926,829	44	51	49		540	-9.1	0.2	16	dbSNP_100	49	894,7386		51,792,3297	no	coding-synonymous	LMF1	NM_022773.2		279,1718,4126	TT,TC,CC		10.7971,34.8462,18.5857		180/568	961054	2276,9970	1983	4140	6123	SO:0001819	synonymous_variant	64788	exon4			GAACCCCGTCTCC	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.540G>A	16.37:g.961054C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	NM_022773	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	CCDS45373.1																																																																																			C|0.774;T|0.226	0.226	strong		0.532	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		T	961054	C	T	961054	2	4	22	1	0	0	0	0	0	0	0	1	8845	639	23	1		1	LMF1	16	961054	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	961054	89393699	7982	13090	271	2								
LMF1	64788	hgsc.bcm.edu	37	chr16	1004554	1004554	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagctgaagacttcccagctCgtcctgtcctggaagtactg	10	12	0	2	rs3751667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1004554C>T	ENST00000262301.11	-	2	324	c.306G>A	c.(304-306)acG>acA	p.T102T	LMF1_ENST00000543238.1_Intron|LMF1_ENST00000539379.1_Silent_p.T95T|LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000399843.2_Silent_p.T102T	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	102					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTTCCCAGCTCGTCCTGTCCT	0.557													C|||	1807	0.360823	0.4274	0.2608	5008	,	,		20519	0.4127		0.2078	False		,,,				2504	0.4458				p.T102T		Atlas-SNP	.											LMF1,NS,carcinoma,-1,3	LMF1	42	3	0			c.G306A						PASS	.	C		1550,2552		292,966,793	51	53	53		306	-11.1	0	16	dbSNP_107	53	1918,6470		220,1478,2496	no	coding-synonymous	LMF1	NM_022773.2		512,2444,3289	TT,TC,CC		22.866,37.7864,27.7662		102/568	1004554	3468,9022	2051	4194	6245	SO:0001819	synonymous_variant	64788	exon2			CCAGCTCGTCCTG	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.306G>A	16.37:g.1004554C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	99	47	0.474747	NM_022773	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	CCDS45373.1																																																																																			C|0.674;T|0.326	0.326	strong		0.557	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		T	1004554	C	T	1004554	2	4	22	1	0	0	0	0	0	0	0	1	8845	871	31	1		1	LMF1	16	1004554	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43500	1004554	89350199	7983	13091										
SSTR5	6755	hgsc.bcm.edu	37	chr16	1128901	1128901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccagcctccacgcccagCtggaacgcctcctccccggg	9	21	0	0	rs35128939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1128901C>T	ENST00000293897.4	+	1	121	c.33C>T	c.(31-33)agC>agT	p.S11S	SSTR5_ENST00000562758.1_Silent_p.S11S|SSTR5_ENST00000397547.2_Silent_p.S11S|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	11					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)	CCACGCCCAGCTGGAACGCCT	0.731													C|||	17	0.00339457	0.0121	0.0014	5008	,	,		13446	0.0		0.0	False		,,,				2504	0.0				p.S11S		Atlas-SNP	.											.	SSTR5	36	.	0			c.C33T						PASS	.	C	,	44,4262		0,44,2109	10	11	11		33,33	3.8	1	16	dbSNP_126	11	0,8488		0,0,4244	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,44,6353	TT,TC,CC		0.0,1.0218,0.3439	,	11/365,11/365	1128901	44,12750	2153	4244	6397	SO:0001819	synonymous_variant	6755	exon2			GCCCAGCTGGAAC	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.33C>T	16.37:g.1128901C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	24	5	0.208333	NM_001172560	P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	CCDS10429.1																																																																																			C|0.997;T|0.003	0.003	strong		0.731	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			T	1128901	C	T	1128901	2	4	22	1	0	0	0	0	0	0	0	1	15200	796	28	2		2	SSTR5	16	1128901	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124347	1128901	89225852	7984	13092										
SSTR5	6755	hgsc.bcm.edu	37	chr16	1129023	1129023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtacctgctggtgtgtgCggccgggctgggcgggaaca	19	10	0	0	rs4988484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1129023C>T	ENST00000293897.4	+	1	243	c.155C>T	c.(154-156)gCg>gTg	p.A52V	SSTR5_ENST00000562758.1_Missense_Mutation_p.A52V|SSTR5_ENST00000397547.2_Missense_Mutation_p.A52V|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	52			A -> V (in dbSNP:rs4988484).		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)	CTGGTGTGTGCGGCCGGGCTG	0.677													C|||	458	0.0914537	0.177	0.0447	5008	,	,		13756	0.005		0.0427	False		,,,				2504	0.1483				p.A52V		Atlas-SNP	.											.	SSTR5	36	.	0			c.C155T						PASS	.	C	VAL/ALA,VAL/ALA	590,3768		39,512,1628	48	35	39		155,155	-1.7	0	16	dbSNP_113	39	335,8239		6,323,3958	yes	missense,missense	SSTR5	NM_001053.3,NM_001172560.1	64,64	45,835,5586	TT,TC,CC		3.9072,13.5383,7.1528	benign,benign	52/365,52/365	1129023	925,12007	2179	4287	6466	SO:0001583	missense	6755	exon2			TGTGTGCGGCCGG	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.155C>T	16.37:g.1129023C>T	ENSP00000293897:p.Ala52Val	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	25	10	0.4	NM_001172560	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	CCDS10429.1	133	0.060897435897435896	86	0.17479674796747968	19	0.052486187845303865	0	0.0	28	0.036939313984168866	C	0.010	-1.745934	0.00669	0.135383	0.039072	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.16897	2.31;2.31	4.56	-1.72	0.08107	.	1.327860	0.05379	N	0.536760	T	0.00039	0.0001	N	0.16602	0.42	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.38520	-0.9657	9	0.02654	T	1	.	10.3765	0.44085	0.0:0.5086:0.0:0.4914	rs4988484	52	P35346	SSR5_HUMAN	V	52	ENSP00000380680:A52V;ENSP00000293897:A52V	ENSP00000293897:A52V	A	+	2	0	SSTR5	1069024	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.484000	0.22308	-0.162000	0.10964	0.491000	0.48974	GCG	C|0.930;T|0.070	0.070	strong		0.677	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			T	1129023	C	T	1129023	3	4	22	1	0	0	0	0	1	0	0	0	15200	768	27	1	157	1	SSTR5	16	1129023	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122	1129023	89225730	7985	13093										
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1245062	1245062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggacgttgagtgcggctcCgagcgctgcaacatcctgga	15	11	0	1	rs59794024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1245062C>T	ENST00000348261.5	+	3	638	c.390C>T	c.(388-390)tcC>tcT	p.S130S	CACNA1H_ENST00000565831.1_Silent_p.S130S|CACNA1H_ENST00000358590.4_Silent_p.S130S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	130					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGTGCGGCTCCGAGCGCTGCA	0.647											OREG0023543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	215	0.0429313	0.1551	0.0144	5008	,	,		8995	0.0		0.0	False		,,,				2504	0.0				p.S130S		Atlas-SNP	.											.	CACNA1H	317	.	0			c.C390T						PASS	.		,	470,3718		28,414,1652	79	86	84		390,390	-9	0.7	16	dbSNP_129	84	3,8407		0,3,4202	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	28,417,5854	TT,TC,CC		0.0357,11.2225,3.7546	,	130/2348,130/2354	1245062	473,12125	2094	4205	6299	SO:0001819	synonymous_variant	8912	exon3			CGGCTCCGAGCGC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.390C>T	16.37:g.1245062C>T		Somatic	80	0	0	594	WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																			C|0.967;T|0.033	0.033	strong		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1245062	C	T	1245062	2	4	22	1	0	0	0	0	0	0	0	1	2545	639	23	1		1	CACNA1H	16	1245062	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	116039	1245062	89109691	7986	13094										
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1255206	1255206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagctgctggcctgcggCcctctgggctacatccggaa	13	14	1	1	rs28365123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1255206C>T	ENST00000348261.5	+	11	2792	c.2544C>T	c.(2542-2544)ggC>ggT	p.G848G	CACNA1H_ENST00000565831.1_Silent_p.G848G|CACNA1H_ENST00000358590.4_Silent_p.G848G|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	848			G -> S (in ECA6). {ECO:0000269|PubMed:12891677}.		aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGGCCTGCGGCCCTCTGGGCT	0.612													c|||	290	0.0579073	0.2057	0.0216	5008	,	,		14068	0.0		0.003	False		,,,				2504	0.0				p.G848G		Atlas-SNP	.											.	CACNA1H	317	.	0			c.C2544T						PASS	.		,	677,3501		66,545,1478	74	79	77		2544,2544	1.9	0.9	16	dbSNP_126	77	5,8423		0,5,4209	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	66,550,5687	TT,TC,CC		0.0593,16.2039,5.4101	,	848/2348,848/2354	1255206	682,11924	2089	4214	6303	SO:0001819	synonymous_variant	8912	exon11			CTGCGGCCCTCTG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2544C>T	16.37:g.1255206C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	65	38	0.584615	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																			C|0.953;T|0.047	0.047	strong		0.612	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1255206	C	T	1255206	2	4	22	1	0	0	0	0	0	0	0	1	2545	726	26	2		2	CACNA1H	16	1255206	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10144	1255206	89099547	7987	13095										
TPSB2	64499	hgsc.bcm.edu	37	chr16	1279623	1279623	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtggatgagggagcccccGcagaagtgcatccagtatcg	16	10	0	2	rs72633259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1279623G>A	ENST00000339687.6	-	0	199				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGAGCCCCCGCAGAAGTGCA	0.682													G|||	1997	0.398762	0.3192	0.2579	5008	,	,		10589	0.6766		0.333	False		,,,				2504	0.3875				p.C59C		Atlas-SNP	.											.	TPSB2	8	.	0			c.C177T						PASS	.	G		1338,2956		285,768,1094	32	42	39		177	-6.4	0	16	dbSNP_130	39	2505,6089		372,1761,2164	no	coding-synonymous	TPSB2	NM_024164.5		657,2529,3258	AA,AG,GG		29.1482,31.1598,29.8184		59/276	1279623	3843,9045	2147	4297	6444			64499	exon3			GCCCCCGCAGAAG	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279623G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	134	53	0.395522	NM_024164	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																				G|0.650;A|0.350	0.350	strong		0.682	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		A	1279623	G	A	1279623	1	1	22	0	1	0	0	0	0	0	0	0	16421	1079	38	1		1	TPSB2	16	1279623	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24417	1279623	89075130	7988	13096										
TPSD1	23430	hgsc.bcm.edu	37	chr16	1306671	1306671	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagtgggtgctaaccgcGgcgcactgcgtggaaccgtg					rs1141966	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1306671G>A	ENST00000211076.3	+	2	385	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TPSD1_ENST00000397534.2_Silent_p.A72A|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCTAACCGCGGCGCACTGCG	0.701													-|||	2225	0.444289	0.3351	0.3012	5008	,	,		17135	0.7946		0.3211	False		,,,				2504	0.4591				p.A79A		Atlas-SNP	.											.	TPSD1	47	.	0			c.G237A						PASS	.	G		1420,2978		209,1002,988	43	52	49		237	-6	0	16	dbSNP_86	49	2535,6061		359,1817,2122	no	coding-synonymous	TPSD1	NM_012217.2		568,2819,3110	AA,AG,GG		29.4905,32.2874,30.4371		79/243	1306671	3955,9039	2199	4298	6497	SO:0001819	synonymous_variant	23430	exon2			AACCGCGGCGCAC	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.237G>A	16.37:g.1306671G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	181	97	0.535912	NM_012217	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																			G|1.000;|0.000	.	weak		0.701	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			A	1306671	G	A	1306671	2	1	22	1	0	0	0	0	0	0	0	1	16422	1103	39	1		1	TPSD1	16	1306671	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27048	1306671	89048082	7989	13097	272	2								
TPSD1	23430	hgsc.bcm.edu	37	chr16	1306680	1306680	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctaaccgcggcgcactgCgtggaaccgtgagtctcctg					rs1969653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1306680C>T	ENST00000211076.3	+	2	394	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TPSD1_ENST00000397534.2_Silent_p.C75C|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CGGCGCACTGCGTGGAACCGT	0.706													-|||	857	0.171126	0.289	0.2522	5008	,	,		17255	0.122		0.0994	False		,,,				2504	0.0787				p.C82C		Atlas-SNP	.											.	TPSD1	47	.	0			c.C246T						PASS	.	C		1176,3222		169,838,1192	39	48	45		246	-3	0	16	dbSNP_92	45	797,7799		30,737,3531	no	coding-synonymous	TPSD1	NM_012217.2		199,1575,4723	TT,TC,CC		9.2718,26.7394,15.1839		82/243	1306680	1973,11021	2199	4298	6497	SO:0001819	synonymous_variant	23430	exon2			GCACTGCGTGGAA	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.246C>T	16.37:g.1306680C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	187	77	0.411765	NM_012217	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																			C|0.850;T|0.150	0.150	strong		0.706	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			T	1306680	C	T	1306680	2	4	22	1	0	0	0	0	0	0	0	1	16422	776	27	1		1	TPSD1	16	1306680	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	1306680	89048073	7990	13098	272	2								
BAIAP3	8938	hgsc.bcm.edu	37	chr16	1391132	1391132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcccctctgtccacaggcCcccacgtatgccctgaaagt	8	18	1	1	rs11866635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1391132C>T	ENST00000324385.5	+	7	734	c.576C>T	c.(574-576)gcC>gcT	p.A192A	BAIAP3_ENST00000562208.1_Silent_p.A134A|BAIAP3_ENST00000568887.1_Silent_p.A129A|BAIAP3_ENST00000426824.3_Silent_p.A157A|BAIAP3_ENST00000397489.1_Silent_p.A174A|BAIAP3_ENST00000421665.2_Silent_p.A157A|BAIAP3_ENST00000397488.2_Silent_p.A174A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	192	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCCACAGGCCCCCACGTATG	0.672													C|||	440	0.0878594	0.2156	0.0346	5008	,	,		17155	0.0069		0.0318	False		,,,				2504	0.0941				p.A192A		Atlas-SNP	.											.	BAIAP3	88	.	0			c.C576T						PASS	.	C	,,,,	795,3601	313.6+/-293.2	68,659,1471	55	53	54		471,471,402,387,576	-0.7	1	16	dbSNP_120	54	218,8380	91.4+/-153.5	5,208,4086	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	73,867,5557	TT,TC,CC		2.5355,18.0846,7.7959	,,,,	157/1117,157/1153,134/1130,129/1125,192/1188	1391132	1013,11981	2198	4299	6497	SO:0001819	synonymous_variant	8938	exon7			ACAGGCCCCCACG	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.576C>T	16.37:g.1391132C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	111	55	0.495495	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																			C|0.927;T|0.073	0.073	strong		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			T	1391132	C	T	1391132	2	4	22	1	0	0	0	0	0	0	0	1	1304	610	22	2		2	BAIAP3	16	1391132	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84452	1391132	88963621	7991	13099										
BAIAP3	8938	hgsc.bcm.edu	37	chr16	1391362	1391362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacgcgggagccccgtgcAcagaaggagcagcgcttcgg	16	14	0	1	rs75271587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1391362A>G	ENST00000324385.5	+	8	866	c.708A>G	c.(706-708)gcA>gcG	p.A236A	BAIAP3_ENST00000421665.2_Silent_p.A201A|BAIAP3_ENST00000562208.1_Silent_p.A178A|BAIAP3_ENST00000397489.1_Silent_p.A218A|BAIAP3_ENST00000397488.2_Silent_p.A218A|BAIAP3_ENST00000568887.1_Silent_p.A173A|BAIAP3_ENST00000426824.3_Silent_p.A201A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	236	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGCCCCGTGCACAGAAGGAGC	0.682													G|||	52	0.0103834	0.0386	0.0014	5008	,	,		17448	0.0		0.0	False		,,,				2504	0.0				p.A236A		Atlas-SNP	.											.	BAIAP3	88	.	0			c.A708G						PASS	.	G	,,,,	126,4260		1,124,2068	37	36	36		603,603,534,519,708	-5.2	0	16	dbSNP_131	36	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	1,124,6363	GG,GA,AA		0.0,2.8728,0.971	,,,,	201/1117,201/1153,178/1130,173/1125,236/1188	1391362	126,12850	2193	4295	6488	SO:0001819	synonymous_variant	8938	exon8			CCGTGCACAGAAG	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.708A>G	16.37:g.1391362A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																			A|0.988;G|0.012	0.012	strong		0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			G	1391362	A	G	1391362	2	3	22	1	0	0	0	0	0	0	0	1	1304	146	6	2		2	BAIAP3	16	1391362	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	230	1391362	88963391	7992	13100										
BAIAP3	8938	hgsc.bcm.edu	37	chr16	1391419	1391419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcgcggtggacccctgccTgccaagtgcatccaggtcac	12	15	1	0	rs73485660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1391419T>C	ENST00000324385.5	+	8	923	c.765T>C	c.(763-765)ccT>ccC	p.P255P	BAIAP3_ENST00000562208.1_Silent_p.P197P|BAIAP3_ENST00000568887.1_Silent_p.P192P|BAIAP3_ENST00000426824.3_Silent_p.P220P|BAIAP3_ENST00000397489.1_Silent_p.P237P|BAIAP3_ENST00000421665.2_Silent_p.P220P|BAIAP3_ENST00000397488.2_Silent_p.P237P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	255	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GACCCCTGCCTGCCAAGTGCA	0.677													C|||	42	0.00838658	0.031	0.0014	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.0				p.P255P		Atlas-SNP	.											.	BAIAP3	88	.	0			c.T765C						PASS	.	C	,,,,	113,4283		0,113,2085	61	56	58		660,660,591,576,765	-9.4	0.1	16	dbSNP_130	58	0,8594		0,0,4297	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,113,6382	CC,CT,TT		0.0,2.5705,0.8699	,,,,	220/1117,220/1153,197/1130,192/1125,255/1188	1391419	113,12877	2198	4297	6495	SO:0001819	synonymous_variant	8938	exon8			CCTGCCTGCCAAG	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.765T>C	16.37:g.1391419T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	126	65	0.515873	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																			T|0.989;C|0.011	0.011	strong		0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			C	1391419	T	C	1391419	2	2	22	1	0	0	0	0	0	0	0	1	1304	1567	55	3		3	BAIAP3	16	1391419	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	57	1391419	88963334	7993	13101										
CLCN7	1186	hgsc.bcm.edu	37	chr16	1509123	1509123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccttgagccgcaccacGtgggggatcttcaccccgtt	10	16	3	1	rs12923538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1509123G>A	ENST00000382745.4	-	7	1265	c.660C>T	c.(658-660)caC>caT	p.H220H	CLCN7_ENST00000448525.1_Silent_p.H196H|CLCN7_ENST00000262318.8_Silent_p.H196H	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	220					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCCGCACCACGTGGGGGATCT	0.662													G|||	611	0.122005	0.2352	0.1225	5008	,	,		18275	0.0099		0.1113	False		,,,				2504	0.0951				p.H220H		Atlas-SNP	.											CLCN7,colon,carcinoma,-1,1	CLCN7	53	1	0			c.C660T						PASS	.	G	,	880,3516	332.0+/-302.3	101,678,1419	42	45	44		588,660	-1.5	1	16	dbSNP_121	44	1124,7476	228.4+/-263.5	77,970,3253	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	178,1648,4672	AA,AG,GG		13.0698,20.0182,15.4201	,	196/782,220/806	1509123	2004,10992	2198	4300	6498	SO:0001819	synonymous_variant	1186	exon7			CACCACGTGGGGG	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.660C>T	16.37:g.1509123G>A		Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	256	140	0.546875	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			G|0.854;A|0.146	0.146	strong		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1509123	G	A	1509123	2	1	22	1	0	0	0	0	0	0	0	1	3468	1136	40	1		1	CLCN7	16	1509123	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117704	1509123	88845630	7994	13102										
PTX4	390667	hgsc.bcm.edu	37	chr16	1536047	1536047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcgggaactctttcccgaTggcaaggtttgcaacttccc	10	12	1	0	rs59554810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536047T>C	ENST00000447419.2	-	3	1355	c.1330A>G	c.(1330-1332)Atc>Gtc	p.I444V	PTX4_ENST00000293922.1_Missense_Mutation_p.I439V|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	444	Pentaxin.		I -> V (in dbSNP:rs59554810).			extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCTTTCCCGATGGCAAGGTTT	0.632													T|||	277	0.0553115	0.1974	0.0231	5008	,	,		16980	0.0		0.0	False		,,,				2504	0.0				p.I439V		Atlas-SNP	.											.	PTX4	46	.	0			c.A1315G						PASS	.	T	VAL/ILE	834,3564	328.8+/-300.7	75,684,1440	69	68	68		1315	1.5	0	16	dbSNP_129	68	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PTX4	NM_001013658.1	29	75,687,5737	CC,CT,TT		0.0349,18.9632,6.4395	benign	439/474	1536047	837,12161	2199	4300	6499	SO:0001583	missense	390667	exon3			TCCCGATGGCAAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1330A>G	16.37:g.1536047T>C	ENSP00000445277:p.Ile444Val	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		110	0.05036630036630037	99	0.20121951219512196	11	0.03038674033149171	0	0.0	0	0.0	T	10.44	1.351103	0.24512	0.189632	3.49E-4	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.62788	0.0;0.0	5.21	1.54	0.23209	.	3.825800	0.00481	N	0.000131	T	0.00073	0.0002	N	0.22421	0.69	0.80722	P	0.0	B	0.17465	0.022	B	0.21917	0.037	T	0.03354	-1.1045	9	0.29301	T	0.29	.	2.6395	0.04967	0.1515:0.0841:0.1477:0.6167	rs59554810	439	Q96A99-2	.	V	444;439	ENSP00000445277:I444V;ENSP00000293922:I439V	ENSP00000293922:I439V	I	-	1	0	PTX4	1476048	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.387000	0.20718	-0.013000	0.14199	-0.376000	0.06991	ATC	T|0.942;C|0.058	0.058	strong		0.632	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		C	1536047	T	C	1536047	3	2	22	1	0	0	0	0	1	0	0	0	12823	1464	51	2	109	2	PTX4	16	1536047	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26924	1536047	88818706	7995	13103										
PTX4	390667	hgsc.bcm.edu	37	chr16	1536114	1536114	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaagccagacatgctcccCacgaaggcctcggagctgtc					rs79788206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536114C>A	ENST00000447419.2	-	3	1288	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	PTX4_ENST00000293922.1_Silent_p.V416V|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	421	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACATGCTCCCCACGAAGGCCT	0.637													C|||	88	0.0175719	0.0635	0.0058	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.0				p.V416V		Atlas-SNP	.											.	PTX4	46	.	0			c.G1248T						PASS	.	C		286,4112	139.6+/-175.2	5,276,1918	67	65	66		1248	4.2	1	16	dbSNP_131	66	0,8600		0,0,4300	no	coding-synonymous	PTX4	NM_001013658.1		5,276,6218	AA,AC,CC		0.0,6.503,2.2003		416/474	1536114	286,12712	2199	4300	6499	SO:0001819	synonymous_variant	390667	exon3			GCTCCCCACGAAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1263G>T	16.37:g.1536114C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_001013658		Silent	SNP	ENST00000447419.2	37																																																																																				C|0.976;A|0.024	0.024	strong		0.637	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1536114	C	A	1536114	2	1	22	1	0	0	0	0	0	0	0	1	12823	581	21	4		4	PTX4	16	1536114	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67	1536114	88818639	7996	13104	273	2								
PTX4	390667	hgsc.bcm.edu	37	chr16	1536117	1536117	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccagacatgctccccacGaaggcctcggagctgtcgaa					rs58192896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536117G>A	ENST00000447419.2	-	3	1285	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	PTX4_ENST00000293922.1_Silent_p.F415F|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	420	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGCTCCCCACGAAGGCCTCGG	0.647													G|||	277	0.0553115	0.1974	0.0231	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0				p.F415F		Atlas-SNP	.											.	PTX4	46	.	0			c.C1245T						PASS	.	G		831,3567	324.8+/-298.8	76,679,1444	65	62	63		1245	-10.4	0.5	16	dbSNP_129	63	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	PTX4	NM_001013658.1		76,682,5741	AA,AG,GG		0.0349,18.895,6.4164		415/474	1536117	834,12164	2199	4300	6499	SO:0001819	synonymous_variant	390667	exon3			CCCCACGAAGGCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1260C>T	16.37:g.1536117G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	79	36	0.455696	NM_001013658		Silent	SNP	ENST00000447419.2	37																																																																																				G|0.941;A|0.059	0.059	strong		0.647	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1536117	G	A	1536117	2	1	22	1	0	0	0	0	0	0	0	1	12823	1049	37	1		1	PTX4	16	1536117	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	1536117	88818636	7997	13105	273	2								
PTX4	390667	hgsc.bcm.edu	37	chr16	1536138	1536138	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcctcggagctgtcgaaTccgccccccacgctgtcttg					rs386787711|rs114122805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536138T>C	ENST00000447419.2	-	3	1264	c.1239A>G	c.(1237-1239)ggA>ggG	p.G413G	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.G408G			Q96A99	PTX4_HUMAN	pentraxin 4, long	413	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGCTGTCGAATCCGCCCCCCA	0.662													T|||	87	0.0173722	0.0643	0.0029	5008	,	,		16736	0.0		0.0	False		,,,				2504	0.0				p.G408G		Atlas-SNP	.											.	PTX4	46	.	0			c.A1224G						PASS	.						59	56	57					16																	1536138		2199	4300	6499	SO:0001819	synonymous_variant	390667	exon3			GTCGAATCCGCCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1239A>G	16.37:g.1536138T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_001013658		Silent	SNP	ENST00000447419.2	37																																																																																				T|0.980;C|0.020	0.020	strong		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		C	1536138	T	C	1536138	2	2	22	1	0	0	0	0	0	0	0	1	12823	1422	50	2		2	PTX4	16	1536138	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	1536138	88818615	7998	13106	274	2								
PTX4	390667	hgsc.bcm.edu	37	chr16	1536140	1536140	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcggagctgtcgaatcCgccccccacgctgtcttgtt					rs386787711|rs79505704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536140C>T	ENST00000447419.2	-	3	1262	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.G408R			Q96A99	PTX4_HUMAN	pentraxin 4, long	413	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTGTCGAATCCGCCCCCCACG	0.662													C|||	87	0.0173722	0.0643	0.0029	5008	,	,		16723	0.0		0.0	False		,,,				2504	0.0				p.G408R		Atlas-SNP	.											.	PTX4	46	.	0			c.G1222A						PASS	.						57	55	55					16																	1536140		2199	4300	6499	SO:0001583	missense	390667	exon3			CGAATCCGCCCCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1237G>A	16.37:g.1536140C>T	ENSP00000445277:p.Gly413Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	75	40	0.533333	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		43	0.019688644688644688	41	0.08333333333333333	2	0.0055248618784530384	0	0.0	0	0.0	C	13.11	2.138909	0.37728	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.65364	-0.15;-0.15	5.45	3.39	0.38822	.	0.128923	0.51477	D	0.000092	T	0.09202	0.0227	M	0.63428	1.95	0.09310	N	0.999999	D	0.56287	0.975	P	0.55011	0.766	T	0.10382	-1.0632	10	0.18710	T	0.47	.	8.671	0.34149	0.0:0.7615:0.1535:0.085	.	408	Q96A99-2	.	R	413;408	ENSP00000445277:G413R;ENSP00000293922:G408R	ENSP00000293922:G408R	G	-	1	0	PTX4	1476141	0.000000	0.05858	0.048000	0.18961	0.000000	0.00434	0.922000	0.28734	1.318000	0.45170	-0.251000	0.11542	GGA	C|0.987;T|0.013	0.013	strong		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1536140	C	T	1536140	3	4	22	1	0	0	0	0	1	0	0	0	12823	661	23	1	202	1	PTX4	16	1536140	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	1536140	88818613	7999	13107	274	2								
PTX4	390667	hgsc.bcm.edu	37	chr16	1536357	1536357	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccgggtccccgatcacGaagtggatggatccgggcag	16	11	1	0	rs112226694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1536357G>A	ENST00000447419.2	-	3	1045	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PTX4_ENST00000293922.1_Silent_p.F335F|PTX4_ENST00000440447.2_Missense_Mutation_p.S192L			Q96A99	PTX4_HUMAN	pentraxin 4, long	340	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCCGATCACGAAGTGGATGG	0.662													G|||	88	0.0175719	0.0651	0.0029	5008	,	,		16575	0.0		0.0	False		,,,				2504	0.0				p.F335F		Atlas-SNP	.											.	PTX4	46	.	0			c.C1005T						PASS	.	G		251,4147	138.8+/-174.5	4,243,1952	42	50	47		1005	-11.2	0.2	16	dbSNP_132	47	0,8600		0,0,4300	no	coding-synonymous	PTX4	NM_001013658.1		4,243,6252	AA,AG,GG		0.0,5.7071,1.9311		335/474	1536357	251,12747	2199	4300	6499	SO:0001819	synonymous_variant	390667	exon3			GATCACGAAGTGG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1020C>T	16.37:g.1536357G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_001013658		Silent	SNP	ENST00000447419.2	37																																																																																				G|0.979;A|0.021	0.021	strong		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1536357	G	A	1536357	2	1	22	1	0	0	0	0	0	0	0	1	12823	1049	37	1		1	PTX4	16	1536357	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	217	1536357	88818396	8000	13108										
PTX4	390667	hgsc.bcm.edu	37	chr16	1537693	1537693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgggccttgtgtgccttCctttcccgggcccgctgctg	12	16	1	0	rs61734779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1537693C>A	ENST00000447419.2	-	2	445	c.420G>T	c.(418-420)agG>agT	p.R140S	PTX4_ENST00000293922.1_Missense_Mutation_p.R135S|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	140						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGTGTGCCTTCCTTTCCCGGG	0.711													C|||	649	0.129593	0.2935	0.072	5008	,	,		14870	0.002		0.1074	False		,,,				2504	0.1033				p.R135S		Atlas-SNP	.											.	PTX4	46	.	0			c.G405T						PASS	.	C	SER/ARG	1165,3227		158,849,1189	26	32	30		405	-2.4	0	16	dbSNP_129	30	716,7862		30,656,3603	yes	missense	PTX4	NM_001013658.1	110	188,1505,4792	AA,AC,CC		8.3469,26.5255,14.5027	benign	135/474	1537693	1881,11089	2196	4289	6485	SO:0001583	missense	390667	exon2			TGCCTTCCTTTCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.420G>T	16.37:g.1537693C>A	ENSP00000445277:p.Arg140Ser	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	78	77	0.987179	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		277	0.12683150183150182	164	0.3333333333333333	27	0.07458563535911603	0	0.0	86	0.11345646437994723	C	4.397	0.073239	0.08485	0.265255	0.083469	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.04917	3.68;3.53	4.99	-2.42	0.06542	.	1.741290	0.03367	N	0.198355	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.12013	0.005	B	0.10450	0.005	T	0.48234	-0.9053	9	0.18710	T	0.47	.	2.2588	0.04061	0.1171:0.4328:0.229:0.2212	.	135	Q96A99-2	.	S	140;135	ENSP00000445277:R140S;ENSP00000293922:R135S	ENSP00000293922:R135S	R	-	3	2	PTX4	1477694	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.284000	0.08422	-0.365000	0.08076	-0.258000	0.10820	AGG	C|0.868;A|0.132	0.132	strong		0.711	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1537693	C	A	1537693	3	1	22	1	0	0	0	0	1	0	0	0	12823	854	30	4	1023	4	PTX4	16	1537693	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1336	1537693	88817060	8001	13109										
PTX4	390667	hgsc.bcm.edu	37	chr16	1537706	1537706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccttcctttcccgggccCgctgctggctcctctcgccc	10	20	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1537706C>T	ENST00000447419.2	-	2	432	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	PTX4_ENST00000293922.1_Missense_Mutation_p.R131Q|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	136						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTCCCGGGCCCGCTGCTGGCT	0.701																																					p.R131Q		Atlas-SNP	.											.	PTX4	46	.	0			c.G392A						PASS	.						25	30	29					16																	1537706		2196	4288	6484	SO:0001583	missense	390667	exon2			CGGGCCCGCTGCT		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.407G>A	16.37:g.1537706C>T	ENSP00000445277:p.Arg136Gln	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	90	37	0.411111	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		.	.	.	.	.	.	.	.	.	.	C	7.483	0.649068	0.14516	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.04809	3.7;3.55	4.93	-9.57	0.00562	.	4.517250	0.00481	N	0.000132	T	0.02047	0.0064	N	0.04018	-0.295	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.36817	-0.9732	10	0.21014	T	0.42	.	6.6714	0.23070	0.1895:0.3178:0.0:0.4926	.	131	Q96A99-2	.	Q	136;131	ENSP00000445277:R136Q;ENSP00000293922:R131Q	ENSP00000293922:R131Q	R	-	2	0	PTX4	1477707	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.508000	0.02266	-2.491000	0.00516	-1.170000	0.01741	CGG	.	.	none		0.701	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1537706	C	T	1537706	3	4	22	1	0	0	0	0	1	0	0	0	12823	652	23	1	1036	1	PTX4	16	1537706	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	1537706	88817047	8002	13110										
PTX4	390667	hgsc.bcm.edu	37	chr16	1537874	1537874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagcctggctctcttccGccaggctccggaaccggacg	11	18	1	0	rs7202502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1537874G>A	ENST00000447419.2	-	2	264	c.239C>T	c.(238-240)gCg>gTg	p.A80V	PTX4_ENST00000440447.2_Missense_Mutation_p.A80V|PTX4_ENST00000293922.1_Missense_Mutation_p.A75V			Q96A99	PTX4_HUMAN	pentraxin 4, long	80						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCTCTCTTCCGCCAGGCTCCG	0.632													G|||	532	0.10623	0.3147	0.0476	5008	,	,		16770	0.0119		0.0358	False		,,,				2504	0.0358				p.A75V		Atlas-SNP	.											PTX4,colon,carcinoma,0,1	PTX4	46	1	0			c.C224T						PASS	.	G	VAL/ALA	1235,3153		169,897,1128	93	95	94		224	-1.6	0	16	dbSNP_116	94	301,8279		6,289,3995	yes	missense	PTX4	NM_001013658.1	64	175,1186,5123	AA,AG,GG		3.5082,28.1449,11.8445	benign	75/474	1537874	1536,11432	2194	4290	6484	SO:0001583	missense	390667	exon2			TCTTCCGCCAGGC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.239C>T	16.37:g.1537874G>A	ENSP00000445277:p.Ala80Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	99	37	0.373737	NM_001013658		Missense_Mutation	SNP	ENST00000447419.2	37		200	0.09157509157509157	148	0.3008130081300813	20	0.055248618784530384	6	0.01048951048951049	26	0.03430079155672823	G	7.797	0.712742	0.15306	0.281449	0.035082	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05139	3.6;3.49	5.58	-1.58	0.08479	.	1.177010	0.06210	N	0.684847	T	0.00012	0.0000	L	0.38838	1.175	0.80722	P	0.0	P	0.42248	0.774	B	0.30572	0.117	T	0.42716	-0.9435	9	0.12103	T	0.63	.	0.4208	0.00456	0.2557:0.1407:0.3152:0.2884	rs7202502;rs56872109	75	Q96A99-2	.	V	80;75	ENSP00000445277:A80V;ENSP00000293922:A75V	ENSP00000293922:A75V	A	-	2	0	PTX4	1477875	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.197000	0.17197	-0.527000	0.06374	-0.251000	0.11542	GCG	G|0.894;A|0.106	0.106	strong		0.632	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1537874	G	A	1537874	3	1	22	1	0	0	0	0	1	0	0	0	12823	1087	38	1	1204	1	PTX4	16	1537874	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168	1537874	88816879	8003	13111										
TELO2	9894	hgsc.bcm.edu	37	chr16	1547477	1547477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggaccgggccatggaggcTgtgctgaccgggctggtgga	19	11	0	1	rs2745108	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1547477T>C	ENST00000262319.6	+	5	1077	c.798T>C	c.(796-798)gcT>gcC	p.A266A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	266					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCATGGAGGCTGTGCTGACCG	0.697													N|||	1398	0.279153	0.5136	0.268	5008	,	,		17144	0.251		0.1113	False		,,,				2504	0.1718				p.A266A		Atlas-SNP	.											.	TELO2	44	.	0			c.T798C						PASS	.			1949,2381		427,1095,643	11	12	12		798	-10.1	0	16	dbSNP_100	12	868,7674		48,772,3451	no	coding-synonymous	TELO2	NM_016111.3		475,1867,4094	CC,CT,TT		10.1616,45.0115,21.8847		266/838	1547477	2817,10055	2165	4271	6436	SO:0001819	synonymous_variant	9894	exon5			GGAGGCTGTGCTG	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.798T>C	16.37:g.1547477T>C		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	28	28	1	NM_016111	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																			T|0.754;C|0.246	0.246	strong		0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		C	1547477	T	C	1547477	2	2	22	1	0	0	0	0	0	0	0	1	15754	1567	55	3		3	TELO2	16	1547477	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9603	1547477	88807276	8004	13112										
TELO2	9894	hgsc.bcm.edu	37	chr16	1552107	1552107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctgaagagcagcaaggCtcctgcctacgtccgggact	13	12	0	3	rs58099766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1552107C>T	ENST00000262319.6	+	12	1811	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	511			A -> V (in dbSNP:rs58099766).		regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCAGCAAGGCTCCTGCCTAC	0.632													C|||	115	0.0229633	0.0847	0.0043	5008	,	,		15233	0.0		0.0	False		,,,				2504	0.0				p.A511V		Atlas-SNP	.											.	TELO2	44	.	0			c.C1532T						PASS	.	C	VAL/ALA	328,4070	172.7+/-202.6	14,300,1885	67	64	65		1532	0.3	0.1	16	dbSNP_129	65	1,8599		0,1,4299	yes	missense	TELO2	NM_016111.3	64	14,301,6184	TT,TC,CC		0.0116,7.4579,2.5312	benign	511/838	1552107	329,12669	2199	4300	6499	SO:0001583	missense	9894	exon12			GCAAGGCTCCTGC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1532C>T	16.37:g.1552107C>T	ENSP00000262319:p.Ala511Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	36	0.529412	NM_016111	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	48	0.02197802197802198	46	0.09349593495934959	2	0.0055248618784530384	0	0.0	0	0.0	C	10.54	1.379287	0.24944	0.074579	1.16E-4	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.16743	2.32	5.67	0.301	0.15781	Telomere length regulation protein, conserved domain (1);	0.329093	0.36200	N	0.002734	T	0.00608	0.0020	M	0.76838	2.35	0.30705	N	0.749924	B	0.22800	0.075	B	0.24848	0.056	T	0.07309	-1.0779	10	0.29301	T	0.29	-4.6319	5.3866	0.16222	0.135:0.5696:0.0:0.2954	rs58099766	511	Q9Y4R8	TELO2_HUMAN	V	125;511	ENSP00000262319:A511V	ENSP00000262319:A511V	A	+	2	0	TELO2	1492108	0.983000	0.35010	0.139000	0.22197	0.033000	0.12548	2.614000	0.46359	0.055000	0.16094	0.655000	0.94253	GCT	C|0.972;T|0.028	0.028	strong		0.632	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1552107	C	T	1552107	3	4	22	1	0	0	0	0	1	0	0	0	15754	797	28	2	1574	2	TELO2	16	1552107	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4630	1552107	88802646	8005	13113										
TELO2	9894	hgsc.bcm.edu	37	chr16	1555589	1555589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggatcagaagcaagacccAgcggctctccaaggttagtg	13	11	2	2	rs386787714|rs2248128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1555589A>G	ENST00000262319.6	+	16	2300	c.2021A>G	c.(2020-2022)cAg>cGg	p.Q674R	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	674			Q -> R (in dbSNP:rs2248128).		regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCAAGACCCAGCGGCTCTCC	0.672													G|||	2536	0.50639	0.8343	0.3674	5008	,	,		11908	0.5308		0.2256	False		,,,				2504	0.4254				p.Q674R		Atlas-SNP	.											.	TELO2	44	.	0			c.A2021G						PASS	.	G	ARG/GLN	3286,1112	373.4+/-320.8	1249,788,162	31	35	34		2021	4.9	1	16	dbSNP_100	34	1936,6662	714.8+/-406.0	208,1520,2571	yes	missense	TELO2	NM_016111.3	43	1457,2308,2733	GG,GA,AA		22.5169,25.2842,40.1816	benign	674/838	1555589	5222,7774	2199	4299	6498	SO:0001583	missense	9894	exon16			AGACCCAGCGGCT	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2021A>G	16.37:g.1555589A>G	ENSP00000262319:p.Gln674Arg	Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_016111	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	979	0.4482600732600733	403	0.8191056910569106	127	0.35082872928176795	281	0.49125874125874125	168	0.22163588390501318	G	0.221	-1.028930	0.02045	0.747158	0.225169	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.09350	2.99	4.93	4.93	0.64822	.	0.053924	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00015	-2.88	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36187	-0.9758	9	0.02654	T	1	-32.3826	12.7707	0.57419	0.0818:0.0:0.9182:0.0	rs2248128;rs61199481;rs2248128	674	Q9Y4R8	TELO2_HUMAN	R	197;674	ENSP00000262319:Q674R	ENSP00000262319:Q674R	Q	+	2	0	TELO2	1495590	0.996000	0.38824	0.995000	0.50966	0.157000	0.22087	2.923000	0.48868	1.231000	0.43661	-0.374000	0.07098	CAG	A|0.561;G|0.439	0.439	strong		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		G	1555589	A	G	1555589	3	3	22	1	0	0	0	0	1	0	0	0	15754	188	7	3	2079	3	TELO2	16	1555589	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3482	1555589	88799164	8006	13114										
TMEM204	79652	hgsc.bcm.edu	37	chr16	1584294	1584294	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgatgaccgtgcagagactCgtggccgcggccgtgctggt	17	12	0	2	rs79579867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1584294C>T	ENST00000566264.1	+	1	721	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TMEM204_ENST00000253934.5_Silent_p.L6L|IFT140_ENST00000426508.2_Intron|IFT140_ENST00000361339.5_5'Flank	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	6					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				TGCAGAGACTCGTGGCCGCGG	0.672													C|||	103	0.0205671	0.0764	0.0029	5008	,	,		15087	0.0		0.0	False		,,,				2504	0.0				p.L6L		Atlas-SNP	.											.	TMEM204	29	.	0			c.C18T						PASS	.	C	,	263,3993		4,255,1869	32	39	37		,18	-10.6	0.1	16	dbSNP_131	37	2,8484		0,2,4241	no	intron,coding-synonymous	IFT140,TMEM204	NM_014714.3,NM_024600.4	,	4,257,6110	TT,TC,CC		0.0236,6.1795,2.0797	,	,6/227	1584294	265,12477	2128	4243	6371	SO:0001819	synonymous_variant	79652	exon1			GAGACTCGTGGCC		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.18C>T	16.37:g.1584294C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	202	98	0.485149	NM_024600	D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	CCDS42098.1																																																																																			C|0.979;T|0.021	0.021	strong		0.672	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		T	1584294	C	T	1584294	2	4	22	1	0	0	0	0	0	0	0	1	16126	871	31	1		1	TMEM204	16	1584294	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28705	1584294	88770459	8007	13115										
TMEM204	79652	hgsc.bcm.edu	37	chr16	1591962	1591962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcaacctggtggccacGgccgcgctcaccgcaggcca	13	18	1	0	rs2076443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1591962G>A	ENST00000566264.1	+	2	1024	c.321G>A	c.(319-321)acG>acA	p.T107T	TMEM204_ENST00000253934.5_Silent_p.T107T|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	107					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				TGGTGGCCACGGCCGCGCTCA	0.701													G|||	1534	0.30631	0.4228	0.1599	5008	,	,		18178	0.3423		0.1918	False		,,,				2504	0.3333				p.T107T		Atlas-SNP	.											TMEM204,NS,carcinoma,0,1	TMEM204	29	1	0			c.G321A						PASS	.	G	,	1554,2760		288,978,891	30	37	35		,321	-11.5	0.2	16	dbSNP_96	35	1649,6841		166,1317,2762	no	intron,coding-synonymous	IFT140,TMEM204	NM_014714.3,NM_024600.4	,	454,2295,3653	AA,AG,GG		19.4229,36.0223,25.0156	,	,107/227	1591962	3203,9601	2157	4245	6402	SO:0001819	synonymous_variant	79652	exon2			GGCCACGGCCGCG		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.321G>A	16.37:g.1591962G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_024600	D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	CCDS42098.1																																																																																			G|0.746;A|0.254	0.254	strong		0.701	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		A	1591962	G	A	1591962	2	1	22	1	0	0	0	0	0	0	0	1	16126	1103	39	1		1	TMEM204	16	1591962	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7668	1591962	88762791	8008	13116										
IFT140	9742	hgsc.bcm.edu	37	chr16	1608082	1608082	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctcctggacaccatctgAgggatgtggtggcacccagg	15	11	2	1	rs2076436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1608082A>G	ENST00000426508.2	-	19	2616	c.2253T>C	c.(2251-2253)ccT>ccC	p.P751P	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	751					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.P751P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACACCATCTGAGGGATGTGGT	0.547													A|||	1740	0.347444	0.5507	0.1844	5008	,	,		18218	0.3433		0.2087	False		,,,				2504	0.3354				p.P751P		Atlas-SNP	.											IFT140,NS,carcinoma,0,1	IFT140	128	1	1	Substitution - coding silent(1)	stomach(1)	c.T2253C						scavenged	.	A		2135,2263	579.6+/-385.0	518,1099,582	146	144	145		2253	0.7	0.3	16	dbSNP_96	145	1861,6739	333.7+/-320.7	197,1467,2636	no	coding-synonymous	IFT140	NM_014714.3		715,2566,3218	GG,GA,AA		21.6395,48.5448,30.7432		751/1463	1608082	3996,9002	2199	4300	6499	SO:0001819	synonymous_variant	9742	exon19			CATCTGAGGGATG	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2253T>C	16.37:g.1608082A>G		Somatic	162	1	0.00617284		WXS	Illumina HiSeq	Phase_I	188	93	0.494681	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																			A|0.687;G|0.313	0.313	strong		0.547	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		G	1608082	A	G	1608082	2	3	22	1	0	0	0	0	0	0	0	1	7556	291	11	3		3	IFT140	16	1608082	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16120	1608082	88746671	8009	13117										
IFT140	9742	hgsc.bcm.edu	37	chr16	1614097	1614097	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catacaaacagccggggctcActctggtcccagaagtggtt	11	12	2	1	rs8048410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1614097A>G	ENST00000426508.2	-	17	2331	c.1968T>C	c.(1966-1968)agT>agC	p.S656S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	656					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCCGGGGCTCACTCTGGTCCC	0.592													G|||	2530	0.505192	0.7179	0.3934	5008	,	,		14960	0.5675		0.2982	False		,,,				2504	0.4458				p.S656S		Atlas-SNP	.											.	IFT140	128	.	0			c.T1968C						PASS	.	G		2832,1566	488.1+/-361.1	911,1010,278	53	62	59		1968	-6	0.4	16	dbSNP_116	59	2666,5934	684.2+/-403.9	413,1840,2047	no	coding-synonymous	IFT140	NM_014714.3		1324,2850,2325	GG,GA,AA		31.0,35.6071,42.2988		656/1463	1614097	5498,7500	2199	4300	6499	SO:0001819	synonymous_variant	9742	exon17			GGGCTCACTCTGG	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1968T>C	16.37:g.1614097A>G		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	245	115	0.469388	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																			A|0.566;G|0.434	0.434	strong		0.592	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		G	1614097	A	G	1614097	2	3	22	1	0	0	0	0	0	0	0	1	7556	156	6	2		2	IFT140	16	1614097	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6015	1614097	88740656	8010	13118										
IFT140	9742	hgsc.bcm.edu	37	chr16	1618306	1618306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggaccagctccgccaggCtcctgcagctacagtgtgct	12	15	0	0	rs8050974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1618306C>T	ENST00000426508.2	-	15	2045	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	561			S -> N (in dbSNP:rs8050974).		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTCCGCCAGGCTCCTGCAGCT	0.662													C|||	128	0.0255591	0.0953	0.0029	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.0				p.S561N		Atlas-SNP	.											.	IFT140	128	.	0			c.G1682A						PASS	.	C	ASN/SER	393,4005	193.0+/-218.2	17,359,1823	71	51	58		1682	-4.9	0.9	16	dbSNP_116	58	2,8598	1.2+/-3.3	0,2,4298	yes	missense	IFT140	NM_014714.3	46	17,361,6121	TT,TC,CC		0.0233,8.9359,3.0389	benign	561/1463	1618306	395,12603	2199	4300	6499	SO:0001583	missense	9742	exon15			GCCAGGCTCCTGC	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1682G>A	16.37:g.1618306C>T	ENSP00000406012:p.Ser561Asn	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	55	0.025183150183150184	54	0.10975609756097561	1	0.0027624309392265192	0	0.0	0	0.0	C	0.085	-1.177507	0.01633	0.089359	2.33E-4	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.70516	-0.49	5.79	-4.95	0.03048	.	0.370546	0.32357	N	0.006210	T	0.00724	0.0024	N	0.02854	-0.475	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07947	-1.0746	10	0.10902	T	0.67	.	10.6786	0.45799	0.0:0.453:0.0951:0.4519	rs8050974;rs8050974	561;286	Q96RY7;B4DR58	IF140_HUMAN;.	N	561	ENSP00000406012:S561N	ENSP00000380562:S561N	S	-	2	0	IFT140	1558307	0.997000	0.39634	0.855000	0.33649	0.090000	0.18270	0.272000	0.18644	-1.081000	0.03105	-1.110000	0.02074	AGC	C|0.964;T|0.036	0.036	strong		0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1618306	C	T	1618306	3	4	22	1	0	0	0	0	1	0	0	0	7556	797	28	2	2774	2	IFT140	16	1618306	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4209	1618306	88736447	8011	13119										
IFT140	9742	hgsc.bcm.edu	37	chr16	1634225	1634225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcggcagtcaccttggtgGcaaacactccactgatgtgc	10	14	1	1	rs8060532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1634225G>A	ENST00000426508.2	-	11	1715	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	451			A -> V (in dbSNP:rs8060532).		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACCTTGGTGGCAAACACTCC	0.632													G|||	129	0.0257588	0.0961	0.0029	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0				p.A451V		Atlas-SNP	.											.	IFT140	128	.	0			c.C1352T						PASS	.	G	VAL/ALA	393,4005	194.0+/-219.0	19,355,1825	41	34	36		1352	1.4	0.6	16	dbSNP_116	36	2,8598	1.2+/-3.3	0,2,4298	yes	missense	IFT140	NM_014714.3	64	19,357,6123	AA,AG,GG		0.0233,8.9359,3.0389	benign	451/1463	1634225	395,12603	2199	4300	6499	SO:0001583	missense	9742	exon11			TTGGTGGCAAACA	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1352C>T	16.37:g.1634225G>A	ENSP00000406012:p.Ala451Val	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	43	24	0.55814	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	55	0.025183150183150184	54	0.10975609756097561	1	0.0027624309392265192	0	0.0	0	0.0	G	0.024	-1.389209	0.01185	0.089359	2.33E-4	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58210	0.35	5.51	1.37	0.22104	.	0.719273	0.14508	N	0.315333	T	0.00754	0.0025	L	0.43923	1.385	0.26845	N	0.968287	B;B	0.18461	0.009;0.028	B;B	0.21360	0.007;0.034	T	0.08973	-1.0696	10	0.02654	T	1	.	8.7453	0.34583	0.3607:0.0:0.6392:0.0	rs8060532;rs8060532	451;176	Q96RY7;B4DR58	IF140_HUMAN;.	V	451	ENSP00000406012:A451V	ENSP00000380562:A451V	A	-	2	0	IFT140	1574226	1.000000	0.71417	0.621000	0.29145	0.082000	0.17680	4.038000	0.57318	0.105000	0.17753	-0.150000	0.13652	GCC	G|0.969;A|0.031	0.031	strong		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1634225	G	A	1634225	3	1	22	1	0	0	0	0	1	0	0	0	7556	1203	42	2	3120	2	IFT140	16	1634225	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15919	1634225	88720528	8012	13120										
IFT140	9742	hgsc.bcm.edu	37	chr16	1637998	1637998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcaaagcgatgtctgcccGgcggccggttttcccgctca	11	14	3	0	rs8058674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1637998G>A	ENST00000426508.2	-	8	1201	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	280			R -> Q (in dbSNP:rs35404373).		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATGTCTGCCCGGCGGCCGGTT	0.622													G|||	98	0.0195687	0.0734	0.0014	5008	,	,		16114	0.0		0.0	False		,,,				2504	0.0				p.R280W		Atlas-SNP	.											.	IFT140	128	.	0			c.C838T						PASS	.	G	TRP/ARG	276,4122	153.7+/-187.2	7,262,1930	43	37	39		838	3.2	0	16	dbSNP_116	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFT140	NM_014714.3	101	7,263,6229	AA,AG,GG		0.0116,6.2756,2.1311	probably-damaging	280/1463	1637998	277,12721	2199	4300	6499	SO:0001583	missense	9742	exon8			CTGCCCGGCGGCC	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.838C>T	16.37:g.1637998G>A	ENSP00000406012:p.Arg280Trp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	94	50	0.531915	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	37	0.01694139194139194	36	0.07317073170731707	1	0.0027624309392265192	0	0.0	0	0.0	G	11.60	1.686901	0.29962	0.062756	1.16E-4	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.30448	1.53	5.32	3.15	0.36227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.748429	0.13091	N	0.414548	T	0.01976	0.0062	L	0.60455	1.87	0.09310	N	1	D	0.60160	0.987	B	0.42653	0.394	T	0.15809	-1.0424	10	0.54805	T	0.06	.	2.9009	0.05705	0.3065:0.2411:0.4525:0.0	rs8058674	280	Q96RY7	IF140_HUMAN	W	280	ENSP00000406012:R280W	ENSP00000380562:R280W	R	-	1	2	IFT140	1577999	0.021000	0.18746	0.008000	0.14137	0.002000	0.02628	1.743000	0.38258	1.241000	0.43820	-0.136000	0.14681	CGG	G|0.978;A|0.022	0.022	strong		0.622	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1637998	G	A	1637998	3	1	22	1	0	0	0	0	1	0	0	0	7556	1115	39	1	3646	1	IFT140	16	1637998	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3773	1637998	88716755	8013	13121										
CRAMP1L	57585	hgsc.bcm.edu	37	chr16	1664931	1664931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaagaggcccaggaaggaTcctccgagcgctgtggggag	17	10	0	1	rs11539468|rs7201813	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1664931T>C	ENST00000397412.3	+	2	390	c.291T>C	c.(289-291)gaT>gaC	p.D97D	IFT140_ENST00000426508.2_5'Flank|CRAMP1L_ENST00000436138.3_Silent_p.D97D|CRAMP1L_ENST00000293925.5_Silent_p.D97D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	97						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCAGGAAGGATCCTCCGAGCG	0.761													C|||	3511	0.701078	0.9092	0.6383	5008	,	,		9970	0.7371		0.4016	False		,,,				2504	0.7352				p.D97D		Atlas-SNP	.											.	CRAMP1L	60	.	0			c.T291C						PASS	.						5	9	8					16																	1664931		639	1533	2172	SO:0001819	synonymous_variant	57585	exon1			GAAGGATCCTCCG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.291T>C	16.37:g.1664931T>C		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	12	12	1	NM_020825	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																			T|0.365;C|0.635	0.635	strong		0.761	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			C	1664931	T	C	1664931	2	2	22	1	0	0	0	0	0	0	0	1	3846	1432	50	2		2	CRAMP1L	16	1664931	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26933	1664931	88689822	8014	13122										
CRAMP1L	57585	hgsc.bcm.edu	37	chr16	1682281	1682281	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagaaaggcaagccagcAagcatggtgaagaacaagga	13	6	0	4	rs3169425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1682281A>G	ENST00000397412.3	+	4	708	c.609A>G	c.(607-609)gcA>gcG	p.A203A	CRAMP1L_ENST00000436138.3_Silent_p.A200A|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K8E|CRAMP1L_ENST00000293925.5_Silent_p.A203A			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	203	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCAAGCCAGCAAGCATGGTGA	0.468													G|||	2273	0.453874	0.6838	0.3386	5008	,	,		19935	0.5605		0.173	False		,,,				2504	0.4039				p.A203A		Atlas-SNP	.											CRAMP1L,NS,carcinoma,+1,2	CRAMP1L	60	2	0			c.A609G						PASS	.	G		2453,1791		693,1067,362	44	51	49		609	-10.8	0	16	dbSNP_105	49	1490,6980		150,1190,2895	no	coding-synonymous	CRAMP1L	NM_020825.3		843,2257,3257	GG,GA,AA		17.5915,42.2008,31.0131		203/1270	1682281	3943,8771	2122	4235	6357	SO:0001819	synonymous_variant	57585	exon3			GCCAGCAAGCATG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.609A>G	16.37:g.1682281A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	100	52	0.52	NM_020825	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																			A|0.586;G|0.414	0.414	strong		0.468	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1682281	A	G	1682281	2	3	22	1	0	0	0	0	0	0	0	1	3846	117	5	2		2	CRAMP1L	16	1682281	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17350	1682281	88672472	8015	13123										
CRAMP1L	57585	hgsc.bcm.edu	37	chr16	1706480	1706480	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcaggacctcattgtcccCgagcagtgccgctgtgcgga	13	13	2	0	rs80154657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1706480C>G	ENST00000397412.3	+	10	1821	c.1722C>G	c.(1720-1722)ccC>ccG	p.P574P	CRAMP1L_ENST00000436138.3_Silent_p.P571P|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Silent_p.P574P|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	574						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TCATTGTCCCCGAGCAGTGCC	0.677													C|||	98	0.0195687	0.0726	0.0029	5008	,	,		15682	0.0		0.0	False		,,,				2504	0.0				p.P574P		Atlas-SNP	.											.	CRAMP1L	60	.	0			c.C1722G						PASS	.	C		168,3706		3,162,1772	15	16	16		1722	-10	0	16	dbSNP_132	16	1,8121		0,1,4060	no	coding-synonymous	CRAMP1L	NM_020825.3		3,163,5832	GG,GC,CC		0.0123,4.3366,1.4088		574/1270	1706480	169,11827	1937	4061	5998	SO:0001819	synonymous_variant	57585	exon9			TGTCCCCGAGCAG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1722C>G	16.37:g.1706480C>G		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_020825	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																			C|0.979;G|0.021	0.021	strong		0.677	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1706480	C	G	1706480	2	3	22	1	0	0	0	0	0	0	0	1	3846	639	23	4		4	CRAMP1L	16	1706480	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24199	1706480	88648273	8016	13124										
NUBP2	3483	hgsc.bcm.edu	37	chr16	1838050	1838050	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcacctgcccacactgcAcggtgagtcccgggggttgc	13	15	1	1	rs57822546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1838050A>G	ENST00000215539.3	-	0	2116				NUBP2_ENST00000262302.9_Missense_Mutation_p.T200A|NUBP2_ENST00000565134.1_Missense_Mutation_p.T200A|NUBP2_ENST00000543305.1_Missense_Mutation_p.T59A|NUBP2_ENST00000565987.1_Missense_Mutation_p.T140A|NUBP2_ENST00000568706.1_Missense_Mutation_p.T59A			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCCACACTGCACGGTGAGTCC	0.662													A|||	461	0.0920527	0.3359	0.0216	5008	,	,		15389	0.0		0.002	False		,,,				2504	0.0				p.T200A		Atlas-SNP	.											.	NUBP2	25	.	0			c.A598G						PASS	.	G	ALA/THR	1287,3109	430.4+/-342.5	179,929,1090	64	66	65		598	-9	0	16	dbSNP_129	65	8,8592	5.7+/-21.5	0,8,4292	yes	missense	NUBP2	NM_012225.2	58	179,937,5382	GG,GA,AA		0.093,29.2766,9.9646	benign	200/272	1838050	1295,11701	2198	4300	6498	SO:0001628	intergenic_variant	10101	exon5			CACTGCACGGTGA	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838050A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_012225	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	165	0.07554945054945054	156	0.3170731707317073	9	0.024861878453038673	0	0.0	0	0.0	A	7.896	0.733364	0.15574	0.292766	9.3E-4	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.40476	1.03;1.61	4.6	-9.03	0.00737	.	0.551776	0.20420	N	0.092691	T	0.00012	0.0000	N	0.03253	-0.375	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.22941	-1.0202	9	0.14252	T	0.57	-10.367	2.1262	0.03739	0.2373:0.079:0.3155:0.3683	rs57822546;rs61739604	200	Q9Y5Y2	NUBP2_HUMAN	A	200;59	ENSP00000262302:T200A;ENSP00000437763:T59A	ENSP00000262302:T200A	T	+	1	0	NUBP2	1778051	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.292000	0.08332	-1.796000	0.01253	-2.629000	0.00154	ACG	A|0.895;G|0.105	0.105	strong		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			G	1838050	A	G	1838050	1	3	22	0	1	0	0	0	0	0	0	0	10716	159	6	2		2	NUBP2	16	1838050	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	131570	1838050	88516703	8017	13125										
IGFALS	3483	hgsc.bcm.edu	37	chr16	1840777	1840777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctgcagggcgaagtcccGcagcgccttgagagggcagc	16	12	1	1	rs9282731	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1840777G>A	ENST00000215539.3	-	2	1752	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	IGFALS_ENST00000415638.3_Missense_Mutation_p.R586W			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	548	LRRCT.		R -> W (in dbSNP:rs9282731).		cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCGAAGTCCCGCAGCGCCTTG	0.667													G|||	458	0.0914537	0.2837	0.0159	5008	,	,		13459	0.003		0.004	False		,,,				2504	0.0665				p.R586W		Atlas-SNP	.											.	IGFALS	29	.	0			c.C1756T						PASS	.	G	TRP/ARG,TRP/ARG	1035,3305		125,785,1260	21	18	19		1756,1642	-2.2	0	16	dbSNP_118	19	14,8548		0,14,4267	yes	missense,missense	IGFALS	NM_001146006.1,NM_004970.2	101,101	125,799,5527	AA,AG,GG		0.1635,23.8479,8.1305	probably-damaging,probably-damaging	586/644,548/606	1840777	1049,11853	2170	4281	6451	SO:0001583	missense	3483	exon2			AGTCCCGCAGCGC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1642C>T	16.37:g.1840777G>A	ENSP00000215539:p.Arg548Trp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	109	61	0.559633	NM_001146006	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	124	0.056776556776556776	117	0.23780487804878048	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	G	12.57	1.976387	0.34848	0.238479	0.001635	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.25749	1.78;1.78	4.54	-2.24	0.06909	Cysteine-rich flanking region, C-terminal (1);	0.186351	0.45361	N	0.000368	T	0.00012	0.0000	L	0.53780	1.695	0.09310	P	0.9999999850705	B;B	0.33135	0.399;0.399	B;B	0.23275	0.045;0.045	T	0.27571	-1.0070	9	0.40728	T	0.16	.	6.0748	0.19909	0.1844:0.0:0.5355:0.2801	rs9282731;rs9282731	586;548	E9PGU3;P35858	.;ALS_HUMAN	W	548;586	ENSP00000215539:R548W;ENSP00000416683:R586W	ENSP00000215539:R548W	R	-	1	2	IGFALS	1780778	0.001000	0.12720	0.006000	0.13384	0.033000	0.12548	-0.195000	0.09546	-0.354000	0.08212	-0.219000	0.12488	CGG	G|0.909;A|0.091	0.091	strong		0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1840777	G	A	1840777	3	1	22	1	0	0	0	0	1	0	0	0	7577	1086	38	1	179	1	IGFALS	16	1840777	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2727	1840777	88513976	8018	13126										
IGFALS	3483	hgsc.bcm.edu	37	chr16	1841033	1841033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggttgcgggagagcagcagGtactccagcttgcccaggcc	15	13	0	1	rs17559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1841033G>A	ENST00000215539.3	-	2	1496	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	IGFALS_ENST00000415638.3_Silent_p.Y500Y			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	462					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGAGCAGCAGGTACTCCAGCT	0.716													G|||	1283	0.25619	0.4818	0.0922	5008	,	,		15016	0.1548		0.0934	False		,,,				2504	0.3395				p.Y500Y		Atlas-SNP	.											IGFALS,NS,carcinoma,0,1	IGFALS	29	1	0			c.C1500T						scavenged	.	G	,	1637,2645		297,1043,801	16	18	17		1500,1386	2.7	1	16	dbSNP_63	17	755,7657		34,687,3485	no	coding-synonymous,coding-synonymous	IGFALS	NM_001146006.1,NM_004970.2	,	331,1730,4286	AA,AG,GG		8.9753,38.2298,18.8435	,	500/644,462/606	1841033	2392,10302	2141	4206	6347	SO:0001819	synonymous_variant	3483	exon2			CAGCAGGTACTCC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1386C>T	16.37:g.1841033G>A		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	8	6	0.75	NM_001146006	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																			G|0.790;A|0.210	0.210	strong		0.716	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1841033	G	A	1841033	2	1	22	1	0	0	0	0	0	0	0	1	7577	1256	44	2		2	IGFALS	16	1841033	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	256	1841033	88513720	8019	13127										
IGFALS	3483	hgsc.bcm.edu	37	chr16	1842454	1842454	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagggctctgcccgagtGagcctgataccagcacagcc	14	13	1	2	rs34680334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1842454G>A	ENST00000215539.3	-	2	127				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000415638.3_Missense_Mutation_p.H27Y			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCCGAGTGAGCCTGATAC	0.701													G|||	347	0.0692891	0.2511	0.0187	5008	,	,		12605	0.0		0.002	False		,,,				2504	0.0				p.H27Y		Atlas-SNP	.											.	IGFALS	29	.	0			c.C79T						PASS	.	G	,TYR/HIS	325,1837		9,307,765	2	4	3		,79	-1.3	0	16	dbSNP_126	3	3,3869		0,3,1933	yes	intron,missense	IGFALS	NM_004970.2,NM_001146006.1	,83	9,310,2698	AA,AG,GG		0.0775,15.0324,5.4359	,benign	,27/644	1842454	328,5706	1081	1936	3017	SO:0001627	intron_variant	3483	exon2			CCGAGTGAGCCTG	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.17-52C>T	16.37:g.1842454G>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	13	9	0.692308	NM_001146006	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	114	0.0521978021978022	105	0.21341463414634146	7	0.019337016574585635	2	0.0034965034965034965	0	0.0	G	8.995	0.978678	0.18812	0.150324	7.75E-4	ENSG00000099769	ENST00000415638	T	0.54071	0.59	1.11	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.33266	0.404	B	0.18263	0.021	T	0.11717	-1.0576	8	0.66056	D	0.02	.	1.1011	0.01684	0.1624:0.2175:0.4:0.22	rs34680334	27	E9PGU3	.	Y	27	ENSP00000416683:H27Y	ENSP00000416683:H27Y	H	-	1	0	IGFALS	1782455	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.803000	0.27083	-0.428000	0.07339	0.549000	0.68633	CAC	G|0.947;A|0.053	0.053	strong		0.701	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1842454	G	A	1842454	1	1	22	0	1	0	0	0	0	0	0	0	7577	1290	45	2		2	IGFALS	16	1842454	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1421	1842454	88512299	8020	13128										
HAGH	3029	hgsc.bcm.edu	37	chr16	1869907	1869907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactccttacctgcagtgtGgacaggtgagtgatcttgtg	12	9	2	2	rs17849371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1869907G>A	ENST00000397356.3	-	4	829	c.423C>T	c.(421-423)tcC>tcT	p.S141S	HAGH_ENST00000566709.1_Silent_p.S93S|HAGH_ENST00000455446.2_Silent_p.S141S|HAGH_ENST00000397353.2_Silent_p.S93S	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	141					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CCTGCAGTGTGGACAGGTGAG	0.627													G|||	218	0.0435304	0.1528	0.0173	5008	,	,		16762	0.0		0.004	False		,,,				2504	0.0				p.S141S	Pancreas(55;1048 1176 25227 40124 41333)	Atlas-SNP	.											.	HAGH	20	.	0			c.C423T						PASS	.	G	,	574,3824	251.5+/-258.2	41,492,1666	104	82	90		279,423	-1.1	0.5	16	dbSNP_123	90	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	HAGH	NM_001040427.1,NM_005326.4	,	41,499,5959	AA,AG,GG		0.0814,13.0514,4.4699	,	93/261,141/309	1869907	581,12417	2199	4300	6499	SO:0001819	synonymous_variant	3029	exon4			CAGTGTGGACAGG	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.423C>T	16.37:g.1869907G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	28	0.358974	NM_005326	A8K290|B4DP33|B4DRA7|E7EN93	Silent	SNP	ENST00000397356.3	37	CCDS10447.2																																																																																			G|0.958;A|0.042	0.042	strong		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		A	1869907	G	A	1869907	2	1	22	1	0	0	0	0	0	0	0	1	6945	1335	47	2		2	HAGH	16	1869907	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27453	1869907	88484846	8021	13129										
FAHD1	81889	hgsc.bcm.edu	37	chr16	1877494	1877494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcgcagtccccgaggcTgcggccatggactacgtggg	16	14	0	0	rs3743854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1877494T>C	ENST00000427358.2	+	1	270	c.264T>C	c.(262-264)gcT>gcC	p.A88A	HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382666.4_Silent_p.A88A|HAGH_ENST00000455446.2_5'Flank|FAHD1_ENST00000382668.4_Silent_p.A88A|HAGH_ENST00000397353.2_5'Flank|HAGH_ENST00000397356.3_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	88						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						TCCCCGAGGCTGCGGCCATGG	0.677													C|||	1007	0.201078	0.1831	0.2262	5008	,	,		18027	0.1746		0.1809	False		,,,				2504	0.2556				p.A88A		Atlas-SNP	.											.	FAHD1	18	.	0			c.T264C						PASS	.	C	,,	775,3617		82,611,1503	33	36	35		264,264,264	1.3	1	16	dbSNP_107	35	1312,7276		110,1092,3092	no	coding-synonymous,coding-synonymous,coding-synonymous	FAHD1	NM_001018104.2,NM_001142398.1,NM_031208.3	,,	192,1703,4595	CC,CT,TT		15.2771,17.6457,16.0786	,,	88/249,88/227,88/225	1877494	2087,10893	2196	4294	6490	SO:0001819	synonymous_variant	81889	exon1			CGAGGCTGCGGCC	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.264T>C	16.37:g.1877494T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_031208	B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Silent	SNP	ENST00000427358.2	37	CCDS10448.1																																																																																			T|0.840;C|0.160	0.160	strong		0.677	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	NM_001018104		C	1877494	T	C	1877494	2	2	22	1	0	0	0	0	0	0	0	1	5372	1567	55	3		3	FAHD1	16	1877494	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7587	1877494	88477259	8022	13130										
C16orf73	254528	hgsc.bcm.edu	37	chr16	1894912	1894912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttcatcatccagaacattCgtttctttattttctcgtat	3	9	4	1	rs9806826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1894912C>T	ENST00000397344.3	-	10	1025	c.831G>A	c.(829-831)acG>acA	p.T277T	MEIOB_ENST00000452149.2_Silent_p.T277T|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000325962.3_Silent_p.T277T|MEIOB_ENST00000470044.1_Silent_p.T70T|MEIOB_ENST00000412554.2_Silent_p.T277T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	277					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)										CCAGAACATTCGTTTCTTTAT	0.279													T|||	1854	0.370208	0.3548	0.3242	5008	,	,		17509	0.4246		0.3141	False		,,,				2504	0.4254				p.T277T		Atlas-SNP	.											C16orf73_ENST00000412554,NS,carcinoma,-1,2	.	.	2	0			c.G831A						PASS	.	T	,	1467,2921	665.6+/-401.6	242,983,969	50	51	50		831,831	0.8	0	16	dbSNP_119	50	2459,6107	685.3+/-404.0	374,1711,2198	no	coding-synonymous,coding-synonymous	C16orf73	NM_001163560.2,NM_152764.2	,	616,2694,3167	TT,TC,CC		28.7065,33.4321,30.3072	,	277/472,277/443	1894912	3926,9028	2194	4283	6477	SO:0001819	synonymous_variant	254528	exon10			AACATTCGTTTCT	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.831G>A	16.37:g.1894912C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	209	86	0.411483	NM_001163560	B1AK39|C9J0S1|Q96RY0	Silent	SNP	ENST00000397344.3	37	CCDS10449.2																																																																																			C|0.681;T|0.319	0.319	strong		0.279	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		T	1894912	C	T	1894912	2	4	22	1	0	0	0	0	0	0	0	1	1832	871	31	1		1	C16orf73	16	1894912	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17418	1894912	88459841	8023	13131										
C16orf73	254528	hgsc.bcm.edu	37	chr16	1894961	1894961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaatgttagcttctggtAtatcttaaattgaaaatgca	8	5	2	2	rs9806945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1894961A>G	ENST00000397344.3	-	10	976	c.782T>C	c.(781-783)aTa>aCa	p.I261T	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000412554.2_Missense_Mutation_p.I261T|MEIOB_ENST00000470044.1_Missense_Mutation_p.I54T|MEIOB_ENST00000452149.2_Missense_Mutation_p.I261T|MEIOB_ENST00000325962.3_Missense_Mutation_p.I261T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	261			I -> T (in dbSNP:rs9806945).		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)										AGCTTCTGGTATATCTTAAAT	0.249													G|||	1010	0.201677	0.1831	0.2262	5008	,	,		16259	0.1736		0.1819	False		,,,				2504	0.2587				p.I261T		Atlas-SNP	.											.	.	.	.	0			c.T782C						PASS	.	G	THR/ILE,THR/ILE	789,3597	726.1+/-409.7	80,629,1484	38	38	38		782,782	4.9	1	16	dbSNP_119	38	1319,7251	738.4+/-407.1	109,1101,3075	yes	missense,missense	C16orf73	NM_001163560.2,NM_152764.2	89,89	189,1730,4559	GG,GA,AA		15.3909,17.9891,16.2705	benign,benign	261/472,261/443	1894961	2108,10848	2193	4285	6478	SO:0001583	missense	254528	exon10			TCTGGTATATCTT	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.782T>C	16.37:g.1894961A>G	ENSP00000380504:p.Ile261Thr	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	139	60	0.431655	NM_001163560	B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	CCDS10449.2	396	0.1813186813186813	91	0.18495934959349594	62	0.1712707182320442	101	0.17657342657342656	142	0.18733509234828497	G	0.037	-1.303042	0.01353	0.179891	0.153909	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.98	4.91	0.64330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.166727	0.53938	N	0.000054	T	0.00012	0.0000	N	0.00069	-2.28	0.53005	P	3.2999999999949736E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34527	-0.9825	9	0.10377	T	0.69	.	10.2088	0.43128	0.1842:0.0:0.8158:0.0	rs9806945;rs52797208;rs59366262;rs9806945	261;261	C9J0S1;Q8N635	.;CP073_HUMAN	T	261	ENSP00000390778:I261T;ENSP00000391033:I261T;ENSP00000314484:I261T;ENSP00000380504:I261T	ENSP00000314484:I261T	I	-	2	0	C16orf73	1834962	1.000000	0.71417	0.972000	0.41901	0.134000	0.20937	2.440000	0.44855	0.686000	0.31488	-0.186000	0.12905	ATA	A|0.839;G|0.161	0.161	strong		0.249	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		G	1894961	A	G	1894961	3	3	22	1	0	0	0	0	1	0	0	0	1832	449	16	2	653	2	C16orf73	16	1894961	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49	1894961	88459792	8024	13132										
HS3ST6	64711	hgsc.bcm.edu	37	chr16	1961866	1961866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccggccgggtcgctgaccaGacgctccccgctgacgaaca	12	17	0	3	rs61742747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:1961866G>A	ENST00000293937.3	-	2	753	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	HS3ST6_ENST00000443547.1_Silent_p.L221L|HS3ST6_ENST00000454677.2_Silent_p.L269L			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	252					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCGCTGACCAGACGCTCCCCG	0.667													g|||	315	0.0628994	0.1921	0.0331	5008	,	,		14253	0.0		0.0348	False		,,,				2504	0.0031				p.L221L		Atlas-SNP	.											.	HS3ST6	26	.	0			c.C661T						PASS	.	A		704,3682	271.6+/-270.3	56,592,1545	48	58	55		661	3.9	1	16	dbSNP_129	55	266,8328	100.3+/-161.8	3,260,4034	no	coding-synonymous	HS3ST6	NM_001009606.2		59,852,5579	AA,AG,GG		3.0952,16.0511,7.473		221/312	1961866	970,12010	2193	4297	6490	SO:0001819	synonymous_variant	64711	exon2			TGACCAGACGCTC			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.754C>T	16.37:g.1961866G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_001009606	Q96RX7	Silent	SNP	ENST00000293937.3	37																																																																																				G|0.953;A|0.047	0.047	strong		0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		A	1961866	G	A	1961866	2	1	22	1	0	0	0	0	0	0	0	1	7369	933	33	2		2	HS3ST6	16	1961866	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66905	1961866	88392887	8025	13133										
RNF151	146310	hgsc.bcm.edu	37	chr16	2018580	2018580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaccctggcagagcaccGgcagcattgccagcaagggt	15	12	0	1	rs62038784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2018580G>A	ENST00000569714.1	+	4	400	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	RNF151_ENST00000321392.3_Missense_Mutation_p.R130Q|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	131					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						GCAGAGCACCGGCAGCATTGC	0.706													G|||	204	0.0407348	0.118	0.0159	5008	,	,		15035	0.0069		0.0179	False		,,,				2504	0.0123				p.R131Q		Atlas-SNP	.											.	RNF151	12	.	0			c.G392A						PASS	.	G	GLN/ARG	323,3615		11,301,1657	10	10	10		392	-6.3	0	16	dbSNP_129	10	101,8157		1,99,4029	no	missense	RNF151	NM_174903.4	43	12,400,5686	AA,AG,GG		1.2231,8.2021,3.4765	benign	131/246	2018580	424,11772	1969	4129	6098	SO:0001583	missense	146310	exon4			AGCACCGGCAGCA	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.392G>A	16.37:g.2018580G>A	ENSP00000456566:p.Arg131Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	77	44	0.571429	NM_174903	Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	CCDS58405.1	67	0.030677655677655676	49	0.09959349593495935	6	0.016574585635359115	4	0.006993006993006993	8	0.010554089709762533	g	1.782	-0.481785	0.04383	0.082021	0.012231	ENSG00000179580	ENST00000321392	T	0.29142	1.58	5.25	-6.3	0.02007	Zinc finger, TRAF-type (1);TRAF-like (1);Zinc finger, SIAH-type (1);	0.679770	0.13596	N	0.376216	T	0.00384	0.0012	L	0.33485	1.01	0.09310	N	1	B	0.22683	0.073	B	0.16289	0.015	T	0.22138	-1.0225	10	0.12430	T	0.62	-5.4708	7.1367	0.25533	0.5424:0.0:0.3431:0.1145	rs62038784	131	Q2KHN1	RN151_HUMAN	Q	130	ENSP00000325794:R130Q	ENSP00000325794:R130Q	R	+	2	0	RNF151	1958581	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.062000	0.11674	-1.696000	0.01421	-1.119000	0.02030	CGG	G|0.970;A|0.030	0.030	strong		0.706	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		A	2018580	G	A	2018580	3	1	22	1	0	0	0	0	1	0	0	0	13452	1116	39	1	406	1	RNF151	16	2018580	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56714	2018580	88336173	8026	13134										
TBL3	10607	hgsc.bcm.edu	37	chr16	2025206	2025206	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccggccgtgacaagatAtgtatcatctgggaccttca	10	11	3	2	rs8053843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2025206A>C	ENST00000568546.1	+	8	782	c.654A>C	c.(652-654)atA>atC	p.I218I		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	218					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GTGACAAGATATGTATCATCT	0.612													C|||	1143	0.228235	0.2905	0.2637	5008	,	,		19224	0.0427		0.2356	False		,,,				2504	0.3027				p.I218I	Melanoma(118;616 1651 35077 38081 48633)	Atlas-SNP	.											.	TBL3	54	.	0			c.A654C						PASS	.	C		1117,3279	716.0+/-408.5	144,829,1225	95	101	99		654	5.4	1	16	dbSNP_116	99	1945,6655	724.7+/-406.5	213,1519,2568	no	coding-synonymous	TBL3	NM_006453.2		357,2348,3793	CC,CA,AA		22.6163,25.4095,23.5611		218/809	2025206	3062,9934	2198	4300	6498	SO:0001819	synonymous_variant	10607	exon8			CAAGATATGTATC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.654A>C	16.37:g.2025206A>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	121	121	1	NM_006453	Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	CCDS10453.1																																																																																			A|0.782;C|0.218	0.218	strong		0.612	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		C	2025206	A	C	2025206	2	2	22	1	0	0	0	0	0	0	0	1	15640	439	16	5		5	TBL3	16	2025206	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6626	2025206	88329547	8027	13135										
TBL3	10607	hgsc.bcm.edu	37	chr16	2025411	2025411	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtgtgaagtccccaggGctgtactttctgacagctgg	14	10	1	2	rs12925447	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2025411G>C	ENST00000568546.1	+	9	905	c.777G>C	c.(775-777)ggG>ggC	p.G259G		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	259					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGTCCCCAGGGCTGTACTTTC	0.627													C|||	260	0.0519169	0.0787	0.0576	5008	,	,		18960	0.0		0.0964	False		,,,				2504	0.0194				p.G259G	Melanoma(118;616 1651 35077 38081 48633)	Atlas-SNP	.											.	TBL3	54	.	0			c.G777C						PASS	.	C		330,4066	794.5+/-415.3	19,292,1887	100	104	103		777	3	0.9	16	dbSNP_121	103	808,7792	782.3+/-407.6	47,714,3539	no	coding-synonymous	TBL3	NM_006453.2		66,1006,5426	CC,CG,GG		9.3953,7.5068,8.7565		259/809	2025411	1138,11858	2198	4300	6498	SO:0001819	synonymous_variant	10607	exon9			CCCAGGGCTGTAC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.777G>C	16.37:g.2025411G>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	34	0.354167	NM_006453	Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	CCDS10453.1																																																																																			G|0.918;C|0.082	0.082	strong		0.627	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		C	2025411	G	C	2025411	2	2	22	1	0	0	0	0	0	0	0	1	15640	1190	42	4		4	TBL3	16	2025411	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205	2025411	88329342	8028	13136										
NOXO1	124056	hgsc.bcm.edu	37	chr16	2030029	2030029	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagcagcacgtccaggctCtcctgggcctgcgcctgaaa	12	16	1	1	rs34358073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2030029C>T	ENST00000397280.4	-	5	573	c.570G>A	c.(568-570)gaG>gaA	p.E190E	NOXO1_ENST00000354249.4_Silent_p.E184E|NOXO1_ENST00000566005.1_Silent_p.E189E|AC005606.1_ENST00000598236.1_5'Flank|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Silent_p.E185E			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	190	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGTCCAGGCTCTCCTGGGCCT	0.652													C|||	194	0.038738	0.1415	0.0086	5008	,	,		16170	0.0		0.001	False		,,,				2504	0.0				p.E190E	Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	Atlas-SNP	.											.	NOXO1	13	.	0			c.G570A						PASS	.	C	,,	442,3932		20,402,1765	15	20	18		552,555,570	-0.2	0	16	dbSNP_126	18	3,8593		0,3,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	NOXO1	NM_144603.2,NM_172167.1,NM_172168.1	,,	20,405,6060	TT,TC,CC		0.0349,10.1052,3.431	,,	184/371,185/372,190/377	2030029	445,12525	2187	4298	6485	SO:0001819	synonymous_variant	124056	exon5			CAGGCTCTCCTGG	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.570G>A	16.37:g.2030029C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	82	46	0.560976	NM_172168	Q86YM1|Q8NFA3|Q96B73	Silent	SNP	ENST00000397280.4	37	CCDS42101.1																																																																																			C|0.966;T|0.034	0.034	strong		0.652	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			T	2030029	C	T	2030029	2	4	22	1	0	0	0	0	0	0	0	1	10561	912	32	2		2	NOXO1	16	2030029	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4618	2030029	88324724	8029	13137										
SYNGR3	9143	hgsc.bcm.edu	37	chr16	2042086	2042086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcgggcgcctgccgcttcGgcgtcgcgctgggcctcgga	17	16	0	0	rs199784173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2042086G>A	ENST00000248121.2	+	2	369	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	71	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CTGCCGCTTCGGCGTCGCGCT	0.716													G|||	18	0.00359425	0.0113	0.0043	5008	,	,		8658	0.0		0.0	False		,,,				2504	0.0				p.G71S		Atlas-SNP	.											.	SYNGR3	10	.	0			c.G211A						PASS	.	G	SER/GLY	21,3953		0,21,1966	6	6	6		211	4.2	1	16		6	0,8028		0,0,4014	no	missense	SYNGR3	NM_004209.5	56	0,21,5980	AA,AG,GG		0.0,0.5284,0.175	probably-damaging	71/230	2042086	21,11981	1987	4014	6001	SO:0001583	missense	9143	exon2			CGCTTCGGCGTCG	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.211G>A	16.37:g.2042086G>A	ENSP00000248121:p.Gly71Ser	Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	11	10	0.909091	NM_004209	B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	CCDS10456.1	13	0.005952380952380952	11	0.022357723577235773	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	g	23.6	4.432249	0.83776	0.005284	0.0	ENSG00000127561	ENST00000248121;ENST00000320633	T	0.24908	1.83	4.2	4.2	0.49525	Marvel (1);MARVEL-like domain (1);	0.056575	0.64402	D	0.000001	T	0.31575	0.0801	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.40590	-0.9555	10	0.62326	D	0.03	.	15.6377	0.76966	0.0:0.0:1.0:0.0	.	71	O43761	SNG3_HUMAN	S	71	ENSP00000248121:G71S	ENSP00000248121:G71S	G	+	1	0	SYNGR3	1982087	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.184000	0.94893	2.340000	0.79590	0.561000	0.74099	GGC	G|0.994;A|0.006	0.006	strong		0.716	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			A	2042086	G	A	2042086	3	1	22	1	0	0	0	0	1	0	0	0	15447	1116	39	1	217	1	SYNGR3	16	2042086	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12057	2042086	88312667	8030	13138										
ZNF598	90850	hgsc.bcm.edu	37	chr16	2050151	2050151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcgtacggcagcgccaAccccacagggcccggggttg	16	14	0	0	rs114023844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2050151A>G	ENST00000563630.1	-	9	1476	c.1234T>C	c.(1234-1236)Ttg>Ctg	p.L412L	ZNF598_ENST00000431526.1_Silent_p.L467L|ZNF598_ENST00000562103.1_Silent_p.L412L|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	467							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGCAGCGCCAACCCCACAGGG	0.687													A|||	137	0.0273562	0.0998	0.0072	5008	,	,		16236	0.0		0.0	False		,,,				2504	0.0				p.L467L		Atlas-SNP	.											.	ZNF598	55	.	0			c.T1399C						PASS	.	A		210,3608		6,198,1705	22	26	25		1401	-6.5	0	16	dbSNP_132	25	0,8050		0,0,4025	no	coding-synonymous	ZNF598	NM_178167.2		6,198,5730	GG,GA,AA		0.0,5.5003,1.7695		467/905	2050151	210,11658	1909	4025	5934	SO:0001819	synonymous_variant	90850	exon11			GCGCCAACCCCAC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1234T>C	16.37:g.2050151A>G		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	43	19	0.44186	NM_178167	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																				A|0.978;G|0.022	0.022	strong		0.687	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		G	2050151	A	G	2050151	2	3	22	1	0	0	0	0	0	0	0	1	18025	40	2	2		2	ZNF598	16	2050151	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8065	2050151	88304602	8031	13139										
TSC2	7249	hgsc.bcm.edu	37	chr16	2136866	2136866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggacttcaagcttggcacCatcaaggtgagtgaggggcc	15	9	2	2	rs35534817|rs137854272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2136866C>T	ENST00000219476.3	+	38	5613	c.4983C>T	c.(4981-4983)acC>acT	p.T1661T	TSC2_ENST00000382538.6_Silent_p.T1546T|TSC2_ENST00000439673.2_Silent_p.T1558T|TSC2_ENST00000353929.4_Silent_p.T1618T|TSC2_ENST00000568454.1_Silent_p.T1605T|TSC2_ENST00000401874.2_Silent_p.T1594T|TSC2_ENST00000350773.4_Silent_p.T1638T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1661	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGCTTGGCACCATCAAGGTGA	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				C|||	136	0.0271565	0.0983	0.0086	5008	,	,		20370	0.0		0.0	False		,,,				2504	0.0				p.T1661T		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	TSC2	364	.	0			c.C4983T						PASS	.	C	,,	297,4081		11,275,1903	53	39	44	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4983,4782,4914	5.2	1	16	dbSNP_126	44	3,8571		0,3,4284	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	11,278,6187	TT,TC,CC		0.035,6.7839,2.3162	,,	1661/1808,1594/1741,1638/1785	2136866	300,12652	2189	4287	6476	SO:0001819	synonymous_variant	7249	exon38	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	TGGCACCATCAAG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4983C>T	16.37:g.2136866C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_000548	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																			C|0.975;T|0.025	0.025	strong		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2136866	C	T	2136866	2	4	22	1	0	0	0	0	0	0	0	1	16603	581	21	2		2	TSC2	16	2136866	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86715	2136866	88217887	8032	13140										
PKD1	5310	hgsc.bcm.edu	37	chr16	2147500	2147500	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgccggagggccagcacaCcagactgcaggtggcgcggg	17	14	0	1	rs61747420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2147500C>G	ENST00000262304.4	-	33	10433	c.10225G>C	c.(10225-10227)Gtg>Ctg	p.V3409L	PKD1_ENST00000423118.1_Missense_Mutation_p.V3408L|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3409					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCCAGCACACCAGACTGCAG	0.672													c|||	257	0.0513179	0.1861	0.0159	5008	,	,		17089	0.0		0.0	False		,,,				2504	0.0				p.V3409L		Atlas-SNP	.											.	PKD1	184	.	0			c.G10225C						PASS	.	C	LEU/VAL,LEU/VAL	543,3827		29,485,1671	18	18	18		10222,10225	2.2	1	16	dbSNP_129	18	6,8516		0,6,4255	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	32,32	29,491,5926	GG,GC,CC		0.0704,12.4256,4.2585	benign,benign	3408/4303,3409/4304	2147500	549,12343	2185	4261	6446	SO:0001583	missense	5310	exon33			AGCACACCAGACT	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10225G>C	16.37:g.2147500C>G	ENSP00000262304:p.Val3409Leu	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	28	14	0.5	NM_001009944	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	94	0.04304029304029304	88	0.17886178861788618	6	0.016574585635359115	0	0.0	0	0.0	C	5.233	0.228566	0.09916	0.124256	7.04E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36699	1.24;1.26	4.44	2.24	0.28232	.	0.926325	0.09170	N	0.839061	T	0.00073	0.0002	L	0.56769	1.78	0.50039	P	1.5799999999999148E-4	B;B	0.30146	0.27;0.021	B;B	0.29598	0.104;0.012	T	0.16041	-1.0416	9	0.25106	T	0.35	.	4.1741	0.10343	0.0:0.5308:0.2145:0.2547	rs61747420	3408;3409	P98161-3;P98161	.;PKD1_HUMAN	L	3409;3408;2743	ENSP00000262304:V3409L;ENSP00000399501:V3408L	ENSP00000262304:V3409L	V	-	1	0	PKD1	2087501	0.000000	0.05858	0.994000	0.49952	0.018000	0.09664	0.114000	0.15520	1.044000	0.40200	0.555000	0.69702	GTG	C|0.948;G|0.052	0.052	strong		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2147500	C	G	2147500	3	3	22	1	0	0	0	0	1	0	0	0	11963	507	18	4	2742	4	PKD1	16	2147500	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10634	2147500	88207253	8033	13141										
PKD1	5310	hgsc.bcm.edu	37	chr16	2152850	2152850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgtagggccggtggtcAgcaccctggagtgactctgg	17	9	2	1	rs9926309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2152850A>G	ENST00000262304.4	-	24	9121	c.8913T>C	c.(8911-8913)gcT>gcC	p.A2971A	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.A2971A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2971					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGGTGGTCAGCACCCTGGA	0.642													g|||	190	0.0379393	0.1369	0.0115	5008	,	,		11693	0.001		0.0	False		,,,				2504	0.0				p.A2971A		Atlas-SNP	.											.	PKD1	184	.	0			c.T8913C						PASS	.	G	,	394,3996	767.2+/-413.5	22,350,1823	62	72	69		8913,8913	-9.1	0	16	dbSNP_119	69	5,8575	816.3+/-406.9	0,5,4285	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	22,355,6108	GG,GA,AA		0.0583,8.9749,3.0763	,	2971/4303,2971/4304	2152850	399,12571	2195	4290	6485	SO:0001819	synonymous_variant	5310	exon24			GTGGTCAGCACCC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8913T>C	16.37:g.2152850A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	24	0.352941	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1	49	0.022435897435897436	45	0.09146341463414634	4	0.011049723756906077	0	0.0	0	0.0	G	0.702	-0.790596	0.02884	0.089749	5.83E-4	ENSG00000008710	ENST00000382481	.	.	.	4.55	-9.1	0.00714	.	.	.	.	.	T	0.04137	0.0115	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.65701	-0.6104	5	0.87932	D	0	.	9.2021	0.37265	0.2909:0.5516:0.0851:0.0724	rs9926309	.	.	.	P	1209	.	ENSP00000371921:L1209P	L	-	2	0	PKD1	2092851	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-2.024000	0.01436	-1.933000	0.01052	-1.087000	0.02190	CTG	A|0.976;G|0.024	0.024	strong		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2152850	A	G	2152850	2	3	22	1	0	0	0	0	0	0	0	1	11963	175	7	3		3	PKD1	16	2152850	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5350	2152850	88201903	8034	13142										
PKD1	5310	hgsc.bcm.edu	37	chr16	2156021	2156021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgggagggtgatggccaAagacctacgagcagaggggg	18	8	1	3	rs28575767	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2156021A>G	ENST00000262304.4	-	20	7916	c.7708T>C	c.(7708-7710)Ttg>Ctg	p.L2570L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2570L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2570	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGATGGCCAAAGACCTACGA	0.701													g|||	890	0.177716	0.5212	0.1383	5008	,	,		15830	0.0		0.0905	False		,,,				2504	0.0143				p.L2570L		Atlas-SNP	.											PKD1,right_upper_lobe,carcinoma,+2,1	PKD1	184	1	0			c.T7708C						scavenged	.						23	36	31					16																	2156021		1407	2607	4014	SO:0001819	synonymous_variant	5310	exon20			TGGCCAAAGACCT	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7708T>C	16.37:g.2156021A>G		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	38	15	0.394737	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.873;G|0.127	0.127	strong		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2156021	A	G	2156021	2	3	22	1	0	0	0	0	0	0	0	1	11963	11	1	2		2	PKD1	16	2156021	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3171	2156021	88198732	8035	13143										
PKD1	5310	hgsc.bcm.edu	37	chr16	2156153	2156153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccacggccaggcccacctCgaagtgtggcctgaaacccg	11	17	0	1	rs28369051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2156153C>G	ENST00000262304.4	-	19	7850	c.7642G>C	c.(7642-7644)Gag>Cag	p.E2548Q	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.E2548Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2548	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		E -> Q (in dbSNP:rs28369051). {ECO:0000269|PubMed:10577909}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCCCACCTCGAAGTGTGGC	0.701													c|||	192	0.0383387	0.1392	0.0115	5008	,	,		16164	0.0		0.0	False		,,,				2504	0.0				p.E2548Q		Atlas-SNP	.											.	PKD1	184	.	0			c.G7642C						PASS	.		GLN/GLU,GLN/GLU	303,3739		5,293,1723	5	8	7		7642,7642	-4	0	16	dbSNP_125	7	2,8128		0,2,4063	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	5,295,5786	GG,GC,CC		0.0246,7.4963,2.5058	benign,benign	2548/4303,2548/4304	2156153	305,11867	2021	4065	6086	SO:0001583	missense	5310	exon19			CCACCTCGAAGTG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7642G>C	16.37:g.2156153C>G	ENSP00000262304:p.Glu2548Gln	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	296	138	0.466216	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	79	0.036172161172161175	74	0.15040650406504066	5	0.013812154696132596	0	0.0	0	0.0	c	2.890	-0.229927	0.06022	0.074963	2.46E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.68624	-0.34;-0.34	5.14	-4.01	0.04045	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	1.060040	0.07309	N	0.875540	T	0.00178	0.0005	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.21688	0.059;0.053	B;B	0.20384	0.012;0.029	T	0.04090	-1.0978	9	0.13108	T	0.6	.	6.7917	0.23703	0.0891:0.3434:0.4431:0.1245	rs28369051	2548;2548	P98161-3;P98161	.;PKD1_HUMAN	Q	2548;2548;1899;827	ENSP00000262304:E2548Q;ENSP00000399501:E2548Q	ENSP00000262304:E2548Q	E	-	1	0	PKD1	2096154	0.000000	0.05858	0.001000	0.08648	0.967000	0.64934	-2.425000	0.01028	-0.502000	0.06596	0.544000	0.68410	GAG	C|0.972;G|0.028	0.028	strong		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2156153	C	G	2156153	3	3	22	1	0	0	0	0	1	0	0	0	11963	893	31	4	5381	4	PKD1	16	2156153	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	132	2156153	88198600	8036	13144										
PKD1	5310	hgsc.bcm.edu	37	chr16	2159341	2159341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcaccacgtggtctccgaCgcgggggaagctgtgggaga	17	11	2	1	rs137978188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2159341C>T	ENST00000262304.4	-	15	6035	c.5827G>A	c.(5827-5829)Gtc>Atc	p.V1943I	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.V1943I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1943	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.		V -> I (in dbSNP:rs137978188). {ECO:0000269|PubMed:11967008}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTCTCCGACGCGGGGGAAG	0.711													c|||	232	0.0463259	0.1687	0.013	5008	,	,		15215	0.0		0.0	False		,,,				2504	0.0				p.V1943I		Atlas-SNP	.											.	PKD1	184	.	0			c.G5827A						PASS	.	C	ILE/VAL,ILE/VAL	416,3736		14,388,1674	11	14	13		5827,5827	3.3	0	16	dbSNP_134	13	7,8223		0,7,4108	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	14,395,5782	TT,TC,CC		0.0851,10.0193,3.4162	possibly-damaging,possibly-damaging	1943/4303,1943/4304	2159341	423,11959	2076	4115	6191	SO:0001583	missense	5310	exon15			CTCCGACGCGGGG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5827G>A	16.37:g.2159341C>T	ENSP00000262304:p.Val1943Ile	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	20	7	0.35	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	92	0.04212454212454213	87	0.17682926829268292	5	0.013812154696132596	0	0.0	0	0.0	c	6.976	0.550123	0.13374	0.100193	8.51E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.61158	0.13;0.13	5.33	3.35	0.38373	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.353980	0.28618	N	0.014707	T	0.00144	0.0004	M	0.64567	1.98	0.80722	P	0.0	P;P	0.45957	0.702;0.869	B;P	0.46208	0.139;0.507	T	0.08106	-1.0738	9	0.33141	T	0.24	.	3.5344	0.07789	0.1467:0.5701:0.1424:0.1408	.	1943;1943	P98161-3;P98161	.;PKD1_HUMAN	I	1943;1943;222	ENSP00000262304:V1943I;ENSP00000399501:V1943I	ENSP00000262304:V1943I	V	-	1	0	PKD1	2099342	0.029000	0.19370	0.001000	0.08648	0.000000	0.00434	2.253000	0.43205	0.627000	0.30340	-0.340000	0.08031	GTC	C|0.958;T|0.042	0.042	strong		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			T	2159341	C	T	2159341	3	4	22	1	0	0	0	0	1	0	0	0	11963	536	19	1	7212	1	PKD1	16	2159341	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3188	2159341	88195412	8037	13145										
PKD1	5310	hgsc.bcm.edu	37	chr16	2162810	2162810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaggccacctccacggccGagtccaccagcacgcccgcc	11	20	0	0	rs147910505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2162810G>A	ENST00000262304.4	-	13	3348	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L	PKD1_ENST00000423118.1_Missense_Mutation_p.S1047L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1047	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCACGGCCGAGTCCACCAG	0.682													g|||	5	0.000998403	0.003	0.0014	5008	,	,		9360	0.0		0.0	False		,,,				2504	0.0				p.S1047L		Atlas-SNP	.											.	PKD1	184	.	0			c.C3140T	GRCh37	CM074435	PKD1	M	rs147910505	PASS	.	G	LEU/SER,LEU/SER	16,4376	22.3+/-47.3	0,16,2180	50	53	52		3140,3140	5	1	16	dbSNP_134	52	0,8586		0,0,4293	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	145,145	0,16,6473	AA,AG,GG		0.0,0.3643,0.1233	possibly-damaging,possibly-damaging	1047/4303,1047/4304	2162810	16,12962	2196	4293	6489	SO:0001583	missense	5310	exon13			ACGGCCGAGTCCA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3140C>T	16.37:g.2162810G>A	ENSP00000262304:p.Ser1047Leu	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	26	11	0.423077	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	15.48	2.845291	0.51164	0.003643	0.0	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62105	0.05;0.05	4.99	4.99	0.66335	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.207794	0.41500	D	0.000864	T	0.74261	0.3693	M	0.68952	2.095	0.40941	D	0.984461	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.915	T	0.70506	-0.4853	10	0.02654	T	1	.	18.2979	0.90153	0.0:0.0:1.0:0.0	.	1047;1047	P98161-3;P98161	.;PKD1_HUMAN	L	1047;1047;762	ENSP00000262304:S1047L;ENSP00000399501:S1047L	ENSP00000262304:S1047L	S	-	2	0	PKD1	2102811	1.000000	0.71417	0.969000	0.41365	0.444000	0.32077	5.507000	0.66999	2.321000	0.78463	0.645000	0.84053	TCG	G|0.999;A|0.001	0.001	strong		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2162810	G	A	2162810	3	1	22	1	0	0	0	0	1	0	0	0	11963	1059	37	1	9907	1	PKD1	16	2162810	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3469	2162810	88191943	8038	13146										
PKD1	5310	hgsc.bcm.edu	37	chr16	2162887	2162887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcactgtggagacctgcagAccctgcatcctgttcatccg	11	14	1	2	rs2369068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2162887A>G	ENST00000262304.4	-	13	3271	c.3063T>C	c.(3061-3063)ggT>ggC	p.G1021G	PKD1_ENST00000423118.1_Silent_p.G1021G|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1021					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACCTGCAGACCCTGCATCC	0.642													g|||	916	0.182907	0.5356	0.1427	5008	,	,		11079	0.0		0.0944	False		,,,				2504	0.0143				p.G1021G		Atlas-SNP	.											.	PKD1	184	.	0			c.T3063C						PASS	.	G	,	2023,2373	604.7+/-390.4	468,1087,643	128	123	125		3063,3063	1.6	0.4	16	dbSNP_100	125	911,7689	775.7+/-407.7	55,801,3444	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	523,1888,4087	GG,GA,AA		10.593,46.0191,22.5762	,	1021/4303,1021/4304	2162887	2934,10062	2198	4300	6498	SO:0001819	synonymous_variant	5310	exon13			CTGCAGACCCTGC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3063T>C	16.37:g.2162887A>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.796;G|0.204	0.204	strong		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2162887	A	G	2162887	2	3	22	1	0	0	0	0	0	0	0	1	11963	262	10	2		2	PKD1	16	2162887	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	77	2162887	88191866	8039	13147										
PKD1	5310	hgsc.bcm.edu	37	chr16	2166538	2166538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggccgactacctccacggGctcgtgcggggctgagaggc	18	13	0	1	rs149022148	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2166538G>A	ENST00000262304.4	-	8	1922	c.1714C>T	c.(1714-1716)Ccc>Tcc	p.P572S	PKD1_ENST00000423118.1_Missense_Mutation_p.P572S|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	572			P -> S (in dbSNP:rs149022148). {ECO:0000269|PubMed:11967008}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTCCACGGGCTCGTGCGGG	0.682													g|||	204	0.0407348	0.1467	0.0144	5008	,	,		12972	0.0		0.0	False		,,,				2504	0.0				p.P572S		Atlas-SNP	.											PKD1,caecum,carcinoma,0,1	PKD1	184	1	0			c.C1714T						PASS	.	G	SER/PRO,SER/PRO	422,3878		16,390,1744	7	8	7		1714,1714	1.8	0	16	dbSNP_134	7	4,8436		0,4,4216	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	74,74	16,394,5960	AA,AG,GG		0.0474,9.814,3.3438	benign,benign	572/4303,572/4304	2166538	426,12314	2150	4220	6370	SO:0001583	missense	5310	exon8			CCACGGGCTCGTG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1714C>T	16.37:g.2166538G>A	ENSP00000262304:p.Pro572Ser	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	86	0.039377289377289376	81	0.16463414634146342	5	0.013812154696132596	0	0.0	0	0.0	G	8.927	0.962500	0.18583	0.09814	4.74E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	4.27	1.83	0.25207	Polycystin cation channel (1);	0.410377	0.23245	N	0.050320	T	0.00109	0.0003	L	0.60455	1.87	0.80722	P	0.0	B;B	0.33171	0.4;0.179	B;B	0.30855	0.121;0.057	T	0.10941	-1.0608	9	0.11182	T	0.66	.	7.8856	0.29648	0.0:0.2683:0.5323:0.1994	.	572;572	P98161-3;P98161	.;PKD1_HUMAN	S	572;572;505	ENSP00000262304:P572S;ENSP00000399501:P572S	ENSP00000262304:P572S	P	-	1	0	PKD1	2106539	0.000000	0.05858	0.004000	0.12327	0.034000	0.12701	0.309000	0.19332	0.907000	0.36646	0.555000	0.69702	CCC	G|0.961;A|0.039	0.039	strong		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2166538	G	A	2166538	3	1	22	1	0	0	0	0	1	0	0	0	11963	1203	42	2	11353	2	PKD1	16	2166538	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3651	2166538	88188215	8040	13148										
C16orf79	283870	hgsc.bcm.edu	37	chr16	2259673	2259673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcagctcctgggtgtggTgggtgtcctggctggggacc	18	11	0	0	rs144886139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2259673T>C	ENST00000562360.1	-	5	472	c.473A>G	c.(472-474)cAc>cGc	p.H158R	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Missense_Mutation_p.H158R			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	158	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CTGGGTGTGGTGGGTGTCCTG	0.687													T|||	42	0.00838658	0.031	0.0014	5008	,	,		14172	0.0		0.0	False		,,,				2504	0.0				p.H158R		Atlas-SNP	.											C16orf79,NS,carcinoma,+1,1	.	.	1	0			c.A473G						PASS	.	T	ARG/HIS	108,4288	77.3+/-115.6	1,106,2091	55	68	64		473	-1.1	0	16	dbSNP_134	64	2,8598	1.2+/-3.3	0,2,4298	yes	missense	C16orf79	NM_182563.3	29	1,108,6389	CC,CT,TT		0.0233,2.4568,0.8464	benign	158/229	2259673	110,12886	2198	4300	6498	SO:0001583	missense	283870	exon5			GTGTGGTGGGTGT	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.473A>G	16.37:g.2259673T>C	ENSP00000455052:p.His158Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_182563	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	T	6.160	0.397772	0.11696	0.024568	2.33E-4	ENSG00000182685	ENST00000328540	T	0.77877	-1.13	5.82	-1.09	0.09904	BRICHOS (2);	0.980375	0.08392	N	0.952853	T	0.27765	0.0683	.	.	.	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.19614	-1.0300	9	0.07813	T	0.8	-22.7577	5.497	0.16807	0.0:0.3998:0.2833:0.3169	.	158;158	Q6PL45;Q6PL45-2	CP079_HUMAN;.	R	158	ENSP00000332389:H158R	ENSP00000332389:H158R	H	-	2	0	C16orf79	2199674	0.000000	0.05858	0.002000	0.10522	0.081000	0.17604	0.005000	0.13129	-0.143000	0.11334	0.459000	0.35465	CAC	T|0.993;C|0.007	0.007	strong		0.687	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		C	2259673	T	C	2259673	3	2	22	1	0	0	0	0	1	0	0	0	1836	1696	59	2	221	2	C16orf79	16	2259673	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93135	2259673	88095080	8041	13149										
E4F1	1877	hgsc.bcm.edu	37	chr16	2273676	2273676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagaagcccaggccgaagCcgggcgggaagcgggcgagg	21	11	0	1	rs200831818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2273676C>A	ENST00000301727.4	+	1	110	c.62C>A	c.(61-63)gCc>gAc	p.A21D	E4F1_ENST00000565090.1_Missense_Mutation_p.A21D|E4F1_ENST00000564139.1_Missense_Mutation_p.A21D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	21					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CAGGCCGAAGCCGGGCGGGAA	0.711													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		11713	0.0		0.0	False		,,,				2504	0.0				p.A21D		Atlas-SNP	.											.	E4F1	53	.	0			c.C62A						PASS	.	C	ASP/ALA	26,4326		0,26,2150	12	16	15		62	4.7	1	16		15	0,8536		0,0,4268	yes	missense	E4F1	NM_004424.3	126	0,26,6418	AA,AC,CC		0.0,0.5974,0.2017	probably-damaging	21/785	2273676	26,12862	2176	4268	6444	SO:0001583	missense	1877	exon1			CCGAAGCCGGGCG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.62C>A	16.37:g.2273676C>A	ENSP00000301727:p.Ala21Asp	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	20	12	0.6	NM_004424	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476414	0.26511	0.005974	0.0	ENSG00000167967	ENST00000301727	T	0.09723	2.95	4.68	4.68	0.58851	.	0.718111	0.13054	N	0.417418	T	0.11537	0.0281	N	0.14661	0.345	0.44523	D	0.997474	D;D;D	0.64830	0.985;0.994;0.985	P;P;P	0.57911	0.767;0.829;0.767	T	0.18241	-1.0343	10	0.59425	D	0.04	-23.6911	16.3289	0.83001	0.0:1.0:0.0:0.0	.	17;21;21	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	D	21	ENSP00000301727:A21D	ENSP00000301727:A21D	A	+	2	0	E4F1	2213677	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.236000	0.32683	2.425000	0.82216	0.655000	0.94253	GCC	.	.	weak		0.711	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		A	2273676	C	A	2273676	3	1	22	1	0	0	0	0	1	0	0	0	4874	739	26	4	64	4	E4F1	16	2273676	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14003	2273676	88081077	8042	13150										
ABCA3	21	hgsc.bcm.edu	37	chr16	2373687	2373687	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaccgtaggtgatatttCacctgtggaaacaaagagaa	10	7	1	3	rs74002800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2373687C>T	ENST00000301732.5	-	7	1150	c.450G>A	c.(448-450)gtG>gtA	p.V150V	ABCA3_ENST00000382381.3_Silent_p.V150V|ABCA3_ENST00000567910.1_Silent_p.V150V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	150					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGTGATATTTCACCTGTGGAA	0.517													C|||	172	0.034345	0.1218	0.0159	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.0				p.V150V		Atlas-SNP	.											.	ABCA3	176	.	0			c.G450A						PASS	.	C		498,3898	228.8+/-243.5	29,440,1729	170	192	185		450	0.9	0.9	16	dbSNP_130	185	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	ABCA3	NM_001089.2		29,446,6023	TT,TC,CC		0.0698,11.3285,3.8781		150/1705	2373687	504,12492	2198	4300	6498	SO:0001819	synonymous_variant	21	exon7			ATATTTCACCTGT	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.450G>A	16.37:g.2373687C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	126	46	0.365079	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																			C|0.963;T|0.037	0.037	strong		0.517	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		T	2373687	C	T	2373687	2	4	22	1	0	0	0	0	0	0	0	1	33	813	29	2		2	ABCA3	16	2373687	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100011	2373687	87981066	8043	13151										
TBC1D24	57465	hgsc.bcm.edu	37	chr16	2546356	2546356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgccgcacggtcacgccTgacgccagcgtgtacagcga	12	17	1	1	rs13339237	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2546356T>C	ENST00000293970.5	+	2	340	c.207T>C	c.(205-207)ccT>ccC	p.P69P	TBC1D24_ENST00000434757.2_Silent_p.P69P|RP11-20I23.1_ENST00000564543.1_Silent_p.P69P|TBC1D24_ENST00000567020.1_Silent_p.P69P	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	69	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CGGTCACGCCTGACGCCAGCG	0.672													C|||	326	0.0650958	0.2322	0.0231	5008	,	,		18489	0.0		0.003	False		,,,				2504	0.0				p.P69P		Atlas-SNP	.											.	TBC1D24	35	.	0			c.T207C						PASS	.	C	,	748,3566		62,624,1471	45	55	52		207,207	-11.2	0	16	dbSNP_121	52	18,8500		0,18,4241	no	coding-synonymous,coding-synonymous	TBC1D24	NM_001199107.1,NM_020705.2	,	62,642,5712	CC,CT,TT		0.2113,17.3389,5.9695	,	69/560,69/554	2546356	766,12066	2157	4259	6416	SO:0001819	synonymous_variant	57465	exon2			CACGCCTGACGCC	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.207T>C	16.37:g.2546356T>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_001199107	A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	CCDS55980.1																																																																																			T|0.941;C|0.059	0.059	strong		0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		C	2546356	T	C	2546356	2	2	22	1	0	0	0	0	0	0	0	1	15611	1567	55	3		3	TBC1D24	16	2546356	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	172669	2546356	87808397	8044	13152										
AMDHD2	51005	hgsc.bcm.edu	37	chr16	2578131	2578131	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaccttcatcacccacctCttcaacgccatgctgcctgt	5	19	4	0	rs35816046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2578131C>G	ENST00000293971.6	+	6	793	c.699C>G	c.(697-699)ctC>ctG	p.L233L	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L233L|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000302956.4_Silent_p.L233L	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	233					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCACCCACCTCTTCAACGCCA	0.667													C|||	109	0.0217652	0.0802	0.0043	5008	,	,		13645	0.0		0.0	False		,,,				2504	0.0				p.L233L		Atlas-SNP	.											.	AMDHD2	33	.	0			c.C699G						PASS	.	C	,	285,4111	155.5+/-188.7	9,267,1922	74	76	75		699,699	5.4	1	16	dbSNP_126	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	AMDHD2	NM_001145815.1,NM_015944.3	,	9,269,6220	GG,GC,CC		0.0233,6.4832,2.2084	,	233/595,233/440	2578131	287,12709	2198	4300	6498	SO:0001819	synonymous_variant	51005	exon6			CCACCTCTTCAAC	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.699C>G	16.37:g.2578131C>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_001145815	B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37																																																																																				G|0.019;C|0.981	0.019	strong		0.667	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		G	2578131	C	G	2578131	2	3	22	1	0	0	0	0	0	0	0	1	568	900	32	4		4	AMDHD2	16	2578131	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31775	2578131	87776622	8045	13153										
PRSS27	83886	hgsc.bcm.edu	37	chr16	2762637	2762637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctcacttctggccgcccAacctcgctggctggaactgc	11	16	2	0	rs61734617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2762637A>G	ENST00000302641.3	-	6	911	c.857T>C	c.(856-858)tTg>tCg	p.L286S	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	286						extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CTGGCCGCCCAACCTCGCTGG	0.662													g|||	240	0.0479233	0.174	0.0101	5008	,	,		14544	0.0		0.003	False		,,,				2504	0.0				p.L286S		Atlas-SNP	.											.	PRSS27	20	.	0			c.T857C						PASS	.	G	SER/LEU	609,3777		37,535,1621	42	37	38		857	-2	0	16	dbSNP_129	38	4,8592		0,4,4294	yes	missense	PRSS27	NM_031948.3	145	37,539,5915	GG,GA,AA		0.0465,13.8851,4.7219	benign	286/291	2762637	613,12369	2193	4298	6491	SO:0001583	missense	83886	exon6			CCGCCCAACCTCG	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.857T>C	16.37:g.2762637A>G	ENSP00000306390:p.Leu286Ser	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	171	82	0.479532	NM_031948		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	93	0.042582417582417584	90	0.18292682926829268	3	0.008287292817679558	0	0.0	0	0.0	.	2.610	-0.290913	0.05568	0.138851	4.65E-4	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.88586	-2.4	4.96	-2.0	0.07433	.	5.046650	0.00575	N	0.000311	T	0.00412	0.0013	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50676	-0.8800	9	0.06625	T	0.88	.	2.0974	0.03671	0.3642:0.1178:0.3973:0.1207	.	286;250	Q9BQR3;B3KP25	PRS27_HUMAN;.	S	286;250	ENSP00000306390:L286S	ENSP00000306390:L286S	L	-	2	0	PRSS27	2702638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.040000	0.13905	-1.081000	0.03105	-1.147000	0.01851	TTG	A|0.948;G|0.052	0.052	strong		0.662	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		G	2762637	A	G	2762637	3	3	22	1	0	0	0	0	1	0	0	0	12621	131	5	2	19	2	PRSS27	16	2762637	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	184506	2762637	87592116	8046	13154										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2813177	2813177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgaccctgagttgaaatCtaggaccccttctagacata	7	12	2	4	rs17136053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2813177C>G	ENST00000301740.8	+	11	3197	c.2648C>G	c.(2647-2649)tCt>tGt	p.S883C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	883	Ser-rich.		S -> C (in dbSNP:rs17136053).		mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGTTGAAATCTAGGACCCCT	0.517													C|||	127	0.0253594	0.0923	0.0072	5008	,	,		19890	0.0		0.0	False		,,,				2504	0.0				p.S883C		Atlas-SNP	.											.	SRRM2	263	.	0			c.C2648G						PASS	.	C	CYS/SER	373,4023	189.5+/-215.6	16,341,1841	82	74	77		2648	2.2	0.7	16	dbSNP_123	77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRRM2	NM_016333.3	112	16,343,6139	GG,GC,CC		0.0233,8.485,2.8855	possibly-damaging	883/2753	2813177	375,12621	2198	4300	6498	SO:0001583	missense	23524	exon11			TGAAATCTAGGAC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2648C>G	16.37:g.2813177C>G	ENSP00000301740:p.Ser883Cys	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	56	0.02564102564102564	53	0.10772357723577236	3	0.008287292817679558	0	0.0	0	0.0	C	4.788	0.146546	0.09134	0.08485	2.33E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.31247	1.5	5.37	2.21	0.28008	.	0.094270	0.47852	N	0.000215	T	0.00524	0.0017	L	0.58101	1.795	0.28061	N	0.932955	B	0.09022	0.002	B	0.04013	0.001	T	0.05354	-1.0890	10	0.59425	D	0.04	-0.8628	8.8449	0.35164	0.0:0.6364:0.2835:0.0801	rs17136053;rs52826498;rs17136053	883	Q9UQ35	SRRM2_HUMAN	C	883;883;135;848	ENSP00000301740:S883C	ENSP00000301740:S883C	S	+	2	0	SRRM2	2753178	0.942000	0.31987	0.690000	0.30148	0.967000	0.64934	1.873000	0.39558	0.215000	0.20761	0.650000	0.86243	TCT	C|0.969;G|0.031	0.031	strong		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2813177	C	G	2813177	3	3	22	1	0	0	0	0	1	0	0	0	15168	913	32	4	2686	4	SRRM2	16	2813177	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50540	2813177	87541576	8047	13155										
PRSS21	10942	hgsc.bcm.edu	37	chr16	2868783	2868783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactacacccgttacttcgtAtcgaatatctatctgagccc	5	13	2	1	rs2074906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2868783A>G	ENST00000005995.3	+	4	405	c.363A>G	c.(361-363)gtA>gtG	p.V121V	PRSS21_ENST00000455114.1_Silent_p.V119V|PRSS21_ENST00000450020.3_Silent_p.V121V			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTTACTTCGTATCGAATATCT	0.532													N|||	307	0.0613019	0.1452	0.0663	5008	,	,		20699	0.0585		0.002	False		,,,				2504	0.0082				p.V121V		Atlas-SNP	.											PRSS21,NS,carcinoma,+1,1	PRSS21	32	1	0			c.A363G						PASS	.	G	,,	522,3874	777.5+/-414.2	22,478,1698	185	148	160		363,357,363	0	0	16	dbSNP_96	160	37,8563	817.8+/-406.9	0,37,4263	no	coding-synonymous,coding-synonymous,coding-synonymous	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	,,	22,515,5961	GG,GA,AA		0.4302,11.8744,4.3013	,,	121/315,119/313,121/301	2868783	559,12437	2198	4300	6498	SO:0001819	synonymous_variant	10942	exon4			CTTCGTATCGAAT	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.363A>G	16.37:g.2868783A>G		Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	186	185	0.994624	NM_144957	Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	CCDS10478.1																																																																																			A|0.944;G|0.056	0.056	strong		0.532	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		G	2868783	A	G	2868783	2	3	22	1	0	0	0	0	0	0	0	1	12618	436	16	2		2	PRSS21	16	2868783	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55606	2868783	87485970	8048	13156										
FLYWCH1	84256	hgsc.bcm.edu	37	chr16	2983483	2983483	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccgggtcccctgactctCaccaggcctcggcccagaaa	11	17	1	2	rs2074362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:2983483C>G	ENST00000253928.9	+	5	1554	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	FLYWCH1_ENST00000416288.2_Silent_p.L382L|FLYWCH1_ENST00000399667.2_Silent_p.L383L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	383						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCCTGACTCTCACCAGGCCTC	0.677													.|||	1699	0.339257	0.4206	0.281	5008	,	,		16161	0.4157		0.1491	False		,,,				2504	0.3875				p.L382L		Atlas-SNP	.											.	FLYWCH1	27	.	0			c.C1146G						PASS	.	C	,	1564,2578		312,940,819	12	18	16		1146,1146	0.5	0	16	dbSNP_96	16	1176,7176		84,1008,3084	no	coding-synonymous,coding-synonymous	FLYWCH1	NM_020912.1,NM_032296.2	,	396,1948,3903	GG,GC,CC		14.0805,37.7595,21.9305	,	382/704,382/716	2983483	2740,9754	2071	4176	6247	SO:0001819	synonymous_variant	84256	exon5			GACTCTCACCAGG	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1149C>G	16.37:g.2983483C>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	95	48	0.505263	NM_020912	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37																																																																																				C|0.704;G|0.296	0.296	strong		0.677	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		G	2983483	C	G	2983483	2	3	22	1	0	0	0	0	0	0	0	1	5947	813	29	4		4	FLYWCH1	16	2983483	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	114700	2983483	87371270	8049	13157										
KREMEN2	79412	hgsc.bcm.edu	37	chr16	3016716	3016716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccggggacgcctggcccCcgccaccgactgtgaccaga	14	18	0	2	rs111311295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3016716C>G	ENST00000303746.5	+	5	1137	c.560C>G	c.(559-561)cCc>cGc	p.P187R	KREMEN2_ENST00000572045.1_Missense_Mutation_p.P187R|KREMEN2_ENST00000575769.1_Missense_Mutation_p.P187R|KREMEN2_ENST00000571007.1_Intron|PAQR4_ENST00000293978.8_5'Flank|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P187R|KREMEN2_ENST00000575885.1_Intron|PAQR4_ENST00000576565.1_5'Flank			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	187	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.			Missing (in Ref. 2; BAC11365). {ECO:0000305}.	Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CGCCTGGCCCCCGCCACCGAC	0.692																																					p.P187R		Atlas-SNP	.											.	KREMEN2	13	.	0			c.C560G						PASS	.	C	ARG/PRO,ARG/PRO	14,4368		0,14,2177	19	24	22		560,560	2.9	0	16	dbSNP_132	22	0,8584		0,0,4292	yes	missense,missense	KREMEN2	NM_024507.2,NM_172229.1	103,103	0,14,6469	GG,GC,CC		0.0,0.3195,0.108	probably-damaging,probably-damaging	187/421,187/463	3016716	14,12952	2191	4292	6483	SO:0001583	missense	79412	exon5			TGGCCCCCGCCAC	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.560C>G	16.37:g.3016716C>G	ENSP00000304422:p.Pro187Arg	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	124	60	0.483871	NM_024507	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579580	0.46006	0.003195	0.0	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.54071	0.59;0.59	4.91	2.92	0.33932	Carbohydrate-binding WSC (2);	0.151142	0.30732	N	0.008999	T	0.57242	0.2040	M	0.78285	2.405	0.30519	N	0.768604	P;P;P;P	0.37101	0.527;0.527;0.527;0.582	B;B;B;P	0.46299	0.377;0.377;0.377;0.511	T	0.60151	-0.7319	10	0.49607	T	0.09	.	5.5586	0.17131	0.0:0.6523:0.1625:0.1852	.	187;187;187;187	Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;KREM2_HUMAN	R	187	ENSP00000304422:P187R;ENSP00000322079:P187R	ENSP00000304422:P187R	P	+	2	0	KREMEN2	2956717	0.083000	0.21467	0.035000	0.18076	0.983000	0.72400	1.656000	0.37355	1.066000	0.40716	0.456000	0.33151	CCC	C|0.999;G|0.001	0.001	strong		0.692	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		G	3016716	C	G	3016716	3	3	22	1	0	0	0	0	1	0	0	0	8443	623	22	4	578	4	KREMEN2	16	3016716	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33233	3016716	87338037	8050	13158										
KREMEN2	79412	hgsc.bcm.edu	37	chr16	3017854	3017854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggcccccggcgctggggGcttccaggggccccaggaga	18	14	0	1	rs11866302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3017854G>C	ENST00000303746.5	+	9	1799	c.1222G>C	c.(1222-1224)Gct>Cct	p.A408P	KREMEN2_ENST00000572045.1_3'UTR|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000575769.1_3'UTR|KREMEN2_ENST00000571007.1_Missense_Mutation_p.A369P|PAQR4_ENST00000293978.8_5'Flank|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000319500.6_Silent_p.G381G|KREMEN2_ENST00000575885.1_Silent_p.G342G|PAQR4_ENST00000576565.1_5'Flank			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	408			A -> P (in dbSNP:rs11866302).		Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						GGCGCTGGGGGCTTCCAGGGG	0.701													C|||	609	0.121605	0.4009	0.0519	5008	,	,		11404	0.0		0.0338	False		,,,				2504	0.0092				p.A408P		Atlas-SNP	.											.	KREMEN2	13	.	0			c.G1222C						PASS	.	C	,PRO/ALA	988,3056		100,788,1134	5	6	6		1143,1222	-0.3	0.9	16	dbSNP_120	6	143,7957		2,139,3909	yes	coding-synonymous,missense	KREMEN2	NM_024507.2,NM_172229.1	,27	102,927,5043	CC,CG,GG		1.7654,24.4313,9.3132	,benign	381/421,408/463	3017854	1131,11013	2022	4050	6072	SO:0001583	missense	79412	exon9			CTGGGGGCTTCCA	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.1222G>C	16.37:g.3017854G>C	ENSP00000304422:p.Ala408Pro	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	116	45	0.387931	NM_172229	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	229	0.10485347985347986	186	0.3780487804878049	24	0.06629834254143646	0	0.0	19	0.025065963060686015	C	0.013	-1.614260	0.00835	0.244313	0.017654	ENSG00000131650	ENST00000303746	T	0.54866	0.55	4.69	-0.35	0.12606	.	0.182647	0.26446	N	0.024339	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999700303	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35895	-0.9770	8	0.02654	T	1	.	7.3415	0.26640	0.4372:0.277:0.2858:0.0	rs11866302	369;408	B4DXF6;Q8NCW0	.;KREM2_HUMAN	P	408	ENSP00000304422:A408P	ENSP00000304422:A408P	A	+	1	0	KREMEN2	2957855	0.995000	0.38212	0.888000	0.34837	0.079000	0.17450	0.061000	0.14366	-0.131000	0.11578	-0.232000	0.12228	GCT	G|0.891;C|0.109	0.109	strong		0.701	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		C	3017854	G	C	3017854	3	2	22	1	0	0	0	0	1	0	0	0	8443	1203	42	4	1256	4	KREMEN2	16	3017854	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1138	3017854	87336899	8051	13159										
PKMYT1	9088	hgsc.bcm.edu	37	chr16	3023185	3023185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtgctccccacagtccGggccaggacagcctcagggg	16	14	1	0	rs150931982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3023185G>A	ENST00000262300.8	-	8	1850	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	PKMYT1_ENST00000440027.2_Silent_p.P460P|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.R439W|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000431515.2_Missense_Mutation_p.R448W|PKMYT1_ENST00000574385.1_Missense_Mutation_p.R439W|PKMYT1_ENST00000574730.1_Missense_Mutation_p.R379W	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	448	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCACAGTCCGGGCCAGGACA	0.657													G|||	17	0.00339457	0.0129	0.0	5008	,	,		15724	0.0		0.0	False		,,,				2504	0.0				p.R448W		Atlas-SNP	.											.	PKMYT1	23	.	0			c.C1342T						PASS	.	G	TRP/ARG,,	34,4316		0,34,2141	28	27	28		1342,,1380	2.5	0.8	16	dbSNP_134	28	0,8560		0,0,4280	yes	missense,utr-3,coding-synonymous	PKMYT1,PAQR4	NM_004203.4,NM_152341.3,NM_182687.2	101,,	0,34,6421	AA,AG,GG		0.0,0.7816,0.2634	probably-damaging,,	448/500,,460/481	3023185	34,12876	2175	4280	6455	SO:0001583	missense	9088	exon8			CAGTCCGGGCCAG	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1342C>T	16.37:g.3023185G>A	ENSP00000262300:p.Arg448Trp	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_004203	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	CCDS10486.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	13.73	2.324957	0.41197	0.007816	0.0	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000402679	T;T	0.62941	-0.01;0.15	4.75	2.47	0.30058	.	0.463681	0.22806	N	0.055404	T	0.41719	0.1171	L	0.32530	0.975	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.52424	0.698;0.698	T	0.53514	-0.8428	10	0.59425	D	0.04	-16.2832	9.4789	0.38889	0.0:0.0:0.6461:0.3539	.	379;448	B4DXD4;Q99640	.;PMYT1_HUMAN	W	448	ENSP00000392855:R448W;ENSP00000262300:R448W	ENSP00000262300:R448W	R	-	1	2	PKMYT1	2963186	0.954000	0.32549	0.808000	0.32385	0.023000	0.10783	1.549000	0.36212	1.104000	0.41587	0.655000	0.94253	CGG	G|0.995;A|0.005	0.005	strong		0.657	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		A	3023185	G	A	3023185	3	1	22	1	0	0	0	0	1	0	0	0	11978	1115	39	1	165	1	PKMYT1	16	3023185	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5331	3023185	87331568	8052	13160										
PKMYT1	9088	hgsc.bcm.edu	37	chr16	3026956	3026956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcgtggcggaagtaggcTgggactgggatgggggtgcc	21	7	1	0	rs4149786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3026956T>C	ENST00000262300.8	-	3	595	c.87A>G	c.(85-87)ccA>ccG	p.P29P	PKMYT1_ENST00000440027.2_Silent_p.P29P|PKMYT1_ENST00000573944.1_Silent_p.P20P|PKMYT1_ENST00000431515.2_Silent_p.P29P|PKMYT1_ENST00000574385.1_Silent_p.P20P|PKMYT1_ENST00000574730.1_Intron	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	29	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGAAGTAGGCTGGGACTGGGA	0.692													C|||	5	0.000998403	0.0	0.0	5008	,	,		16125	0.0		0.0	False		,,,				2504	0.0051				p.P29P		Atlas-SNP	.											.	PKMYT1	23	.	0			c.A87G						PASS	.	C	,	10,4286		0,10,2138	12	15	14		87,87	-3.7	1	16	dbSNP_110	14	0,8510		0,0,4255	no	coding-synonymous,coding-synonymous	PKMYT1	NM_004203.4,NM_182687.2	,	0,10,6393	CC,CT,TT		0.0,0.2328,0.0781	,	29/500,29/481	3026956	10,12796	2148	4255	6403	SO:0001819	synonymous_variant	9088	exon3			GTAGGCTGGGACT	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.87A>G	16.37:g.3026956T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	65	21	0.323077	NM_182687	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	CCDS10486.1																																																																																			T|0.993;C|0.007	0.007	strong		0.692	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		C	3026956	T	C	3026956	2	2	22	1	0	0	0	0	0	0	0	1	11978	1567	55	3		3	PKMYT1	16	3026956	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3771	3026956	87327797	8053	13161										
CLDN6	9074	hgsc.bcm.edu	37	chr16	3065924	3065924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgttgccgatgaaagcGgtcaccttccacatgggcag	12	11	1	1	rs2269911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3065924G>A	ENST00000396925.1	-	3	527	c.99C>T	c.(97-99)acC>acT	p.T33T	CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.T33T			P56747	CLD6_HUMAN	claudin 6	33					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T33T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CGATGAAAGCGGTCACCTTCC	0.632													G|||	1154	0.230431	0.1399	0.1585	5008	,	,		22170	0.4028		0.1978	False		,,,				2504	0.2597				p.T33T		Atlas-SNP	.											CLDN6,NS,carcinoma,0,1	CLDN6	31	1	1	Substitution - coding silent(1)	stomach(1)	c.C99T						scavenged	.	G		609,3787	265.3+/-266.6	44,521,1633	129	101	111		99	-2.5	1	16	dbSNP_100	111	1637,6963	301.7+/-305.6	161,1315,2824	no	coding-synonymous	CLDN6	NM_021195.4		205,1836,4457	AA,AG,GG		19.0349,13.8535,17.2822		33/221	3065924	2246,10750	2198	4300	6498	SO:0001819	synonymous_variant	9074	exon2			GAAAGCGGTCACC	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.99C>T	16.37:g.3065924G>A		Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	236	106	0.449153	NM_021195	B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	CCDS10488.1																																																																																			G|0.811;A|0.189	0.189	strong		0.632	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		A	3065924	G	A	3065924	2	1	22	1	0	0	0	0	0	0	0	1	3489	1103	39	1		1	CLDN6	16	3065924	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38968	3065924	87288829	8054	13162										
THOC6	79228	hgsc.bcm.edu	37	chr16	3076393	3076393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaagtgcctgagatcaaCgctttgctgctggtccccaa	11	12	1	1	rs8057262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3076393C>T	ENST00000326266.8	+	6	686	c.390C>T	c.(388-390)aaC>aaT	p.N130N	THOC6_ENST00000574549.1_Silent_p.N106N|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Silent_p.N130N|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Silent_p.N106N|HCFC1R1_ENST00000396916.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	130					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTGAGATCAACGCTTTGCTGC	0.542													c|||	216	0.043131	0.1589	0.0072	5008	,	,		22149	0.0		0.001	False		,,,				2504	0.0				p.N130N		Atlas-SNP	.											.	THOC6	40	.	0			c.C390T						PASS	.	C	,	548,3848	248.4+/-256.2	32,484,1682	120	102	108		390,390	-3.4	0.9	16	dbSNP_116	108	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	THOC6	NM_001142350.1,NM_024339.3	,	32,488,5978	TT,TC,CC		0.0465,12.4659,4.2475	,	130/297,130/342	3076393	552,12444	2198	4300	6498	SO:0001819	synonymous_variant	79228	exon6			GATCAACGCTTTG	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.390C>T	16.37:g.3076393C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	56	0.486957	NM_001142350	B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	ENST00000326266.8	37	CCDS10491.1																																																																																			C|0.955;T|0.045	0.045	strong		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		T	3076393	C	T	3076393	2	4	22	1	0	0	0	0	0	0	0	1	15866	535	19	1		1	THOC6	16	3076393	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10469	3076393	87278360	8055	13163										
MMP25	64386	hgsc.bcm.edu	37	chr16	3109032	3109032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagctcaaccaggccgcagGacgttggcctgctcccatcc	11	17	1	0	rs7188234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3109032G>A	ENST00000336577.4	+	10	1859	c.1622G>A	c.(1621-1623)gGa>gAa	p.G541E	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	0					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CAGGCCGCAGGACGTTGGCCT	0.706													G|||	454	0.090655	0.1929	0.0793	5008	,	,		9637	0.0		0.0895	False		,,,				2504	0.0552				p.G541E	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	Atlas-SNP	.											.	MMP25	35	.	0			c.G1622A						PASS	.	G	GLU/GLY	716,3544		62,592,1476	12	10	10		1622	0.6	0	16	dbSNP_116	10	695,7687		33,629,3529	yes	missense	MMP25	NM_022468.4	98	95,1221,5005	AA,AG,GG		8.2916,16.8075,11.1612	probably-damaging	541/563	3109032	1411,11231	2130	4191	6321	SO:0001583	missense	64386	exon10			CCGCAGGACGTTG	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1622G>A	16.37:g.3109032G>A	ENSP00000337816:p.Gly541Glu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	99	52	0.525253	NM_022468	Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	CCDS10492.1	194	0.08882783882783883	99	0.20121951219512196	32	0.08839779005524862	0	0.0	63	0.08311345646437995	g	15.99	2.994496	0.54041	0.168075	0.082916	ENSG00000008516	ENST00000336577	T	0.15603	2.41	4.14	0.638	0.17742	.	1.216660	0.06187	N	0.680715	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.32798	-0.9893	9	0.02654	T	1	.	1.7657	0.03001	0.1251:0.2068:0.4564:0.2117	rs7188234;rs7188234	541	Q9NPA2	MMP25_HUMAN	E	541	ENSP00000337816:G541E	ENSP00000337816:G541E	G	+	2	0	MMP25	3049033	0.003000	0.15002	0.002000	0.10522	0.010000	0.07245	0.432000	0.21461	0.194000	0.20326	-0.550000	0.04213	GGA	G|0.889;A|0.111	0.111	strong		0.706	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		A	3109032	G	A	3109032	3	1	22	1	0	0	0	0	1	0	0	0	9662	1174	41	2	1660	2	MMP25	16	3109032	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32639	3109032	87245721	8056	13164										
ZSCAN10	84891	hgsc.bcm.edu	37	chr16	3140601	3140601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggcagcccctttgggCtcttcttgtttaaattcctc	9	13	2	0	rs140690870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3140601C>T	ENST00000252463.2	-	5	756	c.669G>A	c.(667-669)gaG>gaA	p.E223E	ZSCAN10_ENST00000538082.2_Silent_p.E141E|ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	223					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCTTTGGGCTCTTCTTGTT	0.592													C|||	25	0.00499201	0.0182	0.0014	5008	,	,		15976	0.0		0.0	False		,,,				2504	0.0				p.E223E		Atlas-SNP	.											.	ZSCAN10	63	.	0			c.G669A						PASS	.	C		77,4279		1,75,2102	33	36	35		669	-6	0	16	dbSNP_134	35	0,8496		0,0,4248	no	coding-synonymous	ZSCAN10	NM_032805.1		1,75,6350	TT,TC,CC		0.0,1.7677,0.5991		223/726	3140601	77,12775	2178	4248	6426	SO:0001819	synonymous_variant	84891	exon5			TTTGGGCTCTTCT	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.669G>A	16.37:g.3140601C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	30	11	0.366667	NM_032805	B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	CCDS10493.1																																																																																			C|0.991;T|0.009	0.009	strong		0.592	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		T	3140601	C	T	3140601	2	4	22	1	0	0	0	0	0	0	0	1	18224	796	28	2		2	ZSCAN10	16	3140601	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31569	3140601	87214152	8057	13165										
ZNF205	7755	hgsc.bcm.edu	37	chr16	3169321	3169321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccttgggaatgtgaagccCttcagaaccagggcagggag	15	10	1	2	rs59049520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3169321C>T	ENST00000382192.3	+	7	865	c.660C>T	c.(658-660)ccC>ccT	p.P220P	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.P220P|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	220					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ATGTGAAGCCCTTCAGAACCA	0.657													C|||	281	0.0561102	0.2065	0.0101	5008	,	,		15886	0.0		0.001	False		,,,				2504	0.0				p.P220P		Atlas-SNP	.											.	ZNF205	42	.	0			c.C660T						PASS	.	C	,	701,3651		60,581,1535	41	37	38		660,660	1.8	0.2	16	dbSNP_129	38	8,8474		0,8,4233	no	coding-synonymous,coding-synonymous	ZNF205	NM_001042428.1,NM_003456.2	,	60,589,5768	TT,TC,CC		0.0943,16.1075,5.5244	,	220/555,220/555	3169321	709,12125	2176	4241	6417	SO:0001819	synonymous_variant	7755	exon7			GAAGCCCTTCAGA	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.660C>T	16.37:g.3169321C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	83	52	0.626506	NM_003456	A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	CCDS10494.2																																																																																			C|0.944;T|0.056	0.056	strong		0.657	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		T	3169321	C	T	3169321	2	4	22	1	0	0	0	0	0	0	0	1	17761	668	24	2		2	ZNF205	16	3169321	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28720	3169321	87185432	8058	13166										
ZNF213	7760	hgsc.bcm.edu	37	chr16	3188789	3188789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggtcgtcccggagagacGacggacacctgctttgtctc	14	12	1	1	rs35931391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3188789G>A	ENST00000396878.3	+	4	1042	c.567G>A	c.(565-567)acG>acA	p.T189T	ZNF213_ENST00000574902.1_Silent_p.T189T|ZNF213_ENST00000416391.2_Intron|ZNF213_ENST00000576416.1_Silent_p.T189T	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	189					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCGGAGAGACGACGGACACCT	0.542													G|||	274	0.0547125	0.2012	0.0101	5008	,	,		19201	0.0		0.001	False		,,,				2504	0.0				p.T189T		Atlas-SNP	.											.	ZNF213	36	.	0			c.G567A						PASS	.	G	,	709,3685	297.6+/-284.8	61,587,1549	66	63	64		567,567	-10.3	0	16	dbSNP_126	64	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous,coding-synonymous	ZNF213	NM_001134655.1,NM_004220.2	,	61,596,5840	AA,AG,GG		0.1047,16.1356,5.5256	,	189/460,189/460	3188789	718,12276	2197	4300	6497	SO:0001819	synonymous_variant	7760	exon4			AGAGACGACGGAC	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.567G>A	16.37:g.3188789G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	112	62	0.553571	NM_004220	A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	CCDS10495.1																																																																																			G|0.949;A|0.051	0.051	strong		0.542	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		A	3188789	G	A	3188789	2	1	22	1	0	0	0	0	0	0	0	1	17766	1045	37	1		1	ZNF213	16	3188789	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19468	3188789	87165964	8059	13167										
ZNF213	7760	hgsc.bcm.edu	37	chr16	3190767	3190767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaggccagacaggcagcGacgtgactgtgtcctggagc	15	12	0	2	rs143851164		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3190767G>A	ENST00000396878.3	+	6	1274	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ZNF213_ENST00000574902.1_Missense_Mutation_p.D267N|ZNF213_ENST00000416391.2_Missense_Mutation_p.D109N|ZNF213_ENST00000576416.1_Missense_Mutation_p.D267N	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	267	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACAGGCAGCGACGTGACTGT	0.692																																					p.D267N		Atlas-SNP	.											.	ZNF213	36	.	0			c.G799A						PASS	.	G	ASN/ASP,ASN/ASP	1,4387		0,1,2193	34	38	37		799,799	-0.4	0	16	dbSNP_134	37	0,8598		0,0,4299	no	missense,missense	ZNF213	NM_001134655.1,NM_004220.2	23,23	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	267/460,267/460	3190767	1,12985	2194	4299	6493	SO:0001583	missense	7760	exon6			GGCAGCGACGTGA	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.799G>A	16.37:g.3190767G>A	ENSP00000380087:p.Asp267Asn	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	33	20	0.606061	NM_004220	A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409959	0.25465	2.28E-4	0.0	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05319	3.46;3.46	4.23	-0.444	0.12245	Krueppel-associated box (1);	1.158390	0.06689	N	0.769413	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.44907	-0.9297	10	0.52906	T	0.07	.	3.1334	0.06431	0.099:0.3134:0.4223:0.1652	.	267	O14771	ZN213_HUMAN	N	267;109	ENSP00000380087:D267N;ENSP00000403892:D109N	ENSP00000380087:D267N	D	+	1	0	ZNF213	3130768	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.566000	0.05922	-0.371000	0.08004	-1.048000	0.02349	GAC	G|1.000;A|0.000	0.000	weak		0.692	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		A	3190767	G	A	3190767	3	1	22	1	0	0	0	0	1	0	0	0	17766	1058	37	1	817	1	ZNF213	16	3190767	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1978	3190767	87163986	8060	13168										
OR1F1	4992	hgsc.bcm.edu	37	chr16	3254622	3254622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatgaccactttgtcgccGtgtgccaccccttacattac	6	16	0	1	rs8045183	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3254622G>A	ENST00000304646.2	+	1	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	126			V -> M (in dbSNP:rs8045183).		signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTTTGTCGCCGTGTGCCACCC	0.502													g|||	159	0.0317492	0.115	0.0086	5008	,	,		24960	0.0		0.001	False		,,,				2504	0.0				p.V126M		Atlas-SNP	.											.	OR1F1	36	.	0			c.G376A						PASS	.	A	MET/VAL	402,3992	199.4+/-223.0	11,380,1806	220	175	190		376	-6.7	0	16	dbSNP_116	190	7,8593	5.7+/-21.5	0,7,4293	no	missense	OR1F1	NM_012360.1	21	11,387,6099	AA,AG,GG		0.0814,9.1488,3.1476	possibly-damaging	126/313	3254622	409,12585	2197	4300	6497	SO:0001583	missense	4992	exon1			GTCGCCGTGTGCC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.376G>A	16.37:g.3254622G>A	ENSP00000305424:p.Val126Met	Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	250	126	0.504	NM_012360	O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	68	0.031135531135531136	65	0.13211382113821138	3	0.008287292817679558	0	0.0	0	0.0	G	13.94	2.388405	0.42308	0.091488	8.14E-4	ENSG00000168124	ENST00000304646	T	0.49432	0.78	5.27	-6.68	0.01778	GPCR, rhodopsin-like superfamily (1);	0.893841	0.09289	N	0.822529	T	0.00695	0.0023	M	0.72118	2.19	0.80722	P	0.0	D	0.55800	0.973	P	0.51135	0.66	T	0.48714	-0.9011	9	0.87932	D	0	.	10.8187	0.46591	0.7188:0.1085:0.1727:0.0	rs8045183;rs52799876;rs8045183	126	O43749	OR1F1_HUMAN	M	126	ENSP00000305424:V126M	ENSP00000305424:V126M	V	+	1	0	OR1F1	3194623	0.418000	0.25440	0.000000	0.03702	0.630000	0.37929	0.957000	0.29215	-1.050000	0.03230	0.393000	0.25936	GTG	G|0.966;A|0.034	0.034	strong		0.502	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			A	3254622	G	A	3254622	3	1	22	1	0	0	0	0	1	0	0	0	10956	1145	40	1	378	1	OR1F1	16	3254622	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63855	3254622	87100131	8061	13169										
ZNF200	7752	hgsc.bcm.edu	37	chr16	3282468	3282468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcatcttccttctctgacGtgagttgttgagtaggatcc	10	9	3	3	rs9302870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3282468G>A	ENST00000431561.3	-	4	1031	c.419C>T	c.(418-420)aCg>aTg	p.T140M	ZNF200_ENST00000396868.3_Missense_Mutation_p.T139M|ZNF200_ENST00000396870.4_Missense_Mutation_p.T140M|ZNF200_ENST00000414144.2_Missense_Mutation_p.T140M|ZNF200_ENST00000396871.4_Missense_Mutation_p.T140M|ZNF200_ENST00000575948.1_Missense_Mutation_p.T140M	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	140			T -> M (in dbSNP:rs9302870).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTTCTCTGACGTGAGTTGTTG	0.463													G|||	346	0.0690895	0.2504	0.0173	5008	,	,		21841	0.0		0.003	False		,,,				2504	0.0				p.T140M		Atlas-SNP	.											.	ZNF200	36	.	0			c.C419T						PASS	.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	817,3577	326.7+/-299.7	77,663,1457	237	211	220		419,419,419,419,416,419	2.7	0.6	16	dbSNP_119	220	10,8590	7.1+/-27.0	0,10,4290	yes	missense,missense,missense,missense,missense,missense	ZNF200	NM_001145446.1,NM_001145447.1,NM_001145448.1,NM_003454.3,NM_198087.2,NM_198088.2	81,81,81,81,81,81	77,673,5747	AA,AG,GG		0.1163,18.5935,6.3645	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	140/395,140/395,140/395,140/396,139/395,140/396	3282468	827,12167	2197	4300	6497	SO:0001583	missense	7752	exon4			TCTGACGTGAGTT	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.419C>T	16.37:g.3282468G>A	ENSP00000395723:p.Thr140Met	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	128	68	0.53125	NM_003454	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	CCDS10497.1	139	0.06364468864468864	133	0.2703252032520325	6	0.016574585635359115	0	0.0	0	0.0	G	12.60	1.986342	0.35036	0.185935	0.001163	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T;T	0.06449	3.3;3.33;3.3;3.39;3.39	4.84	2.73	0.32206	.	0.395014	0.18653	N	0.134956	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	P;P;P	0.42039	0.658;0.658;0.769	B;B;B	0.43082	0.23;0.23;0.407	T	0.49273	-0.8957	9	0.62326	D	0.03	-13.3741	8.5959	0.33714	0.2043:0.0:0.7957:0.0	rs9302870;rs9302870	140;140;139	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	M	140;139;140;140;140	ENSP00000380079:T140M;ENSP00000380077:T139M;ENSP00000380080:T140M;ENSP00000405786:T140M;ENSP00000395723:T140M	ENSP00000380077:T139M	T	-	2	0	ZNF200	3222469	0.179000	0.23135	0.574000	0.28523	0.226000	0.24999	0.021000	0.13489	1.257000	0.44085	0.555000	0.69702	ACG	G|0.914;A|0.086	0.086	strong		0.463	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			A	3282468	G	A	3282468	3	1	22	1	0	0	0	0	1	0	0	0	17759	1145	40	1	776	1	ZNF200	16	3282468	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27846	3282468	87072285	8062	13170										
ZNF263	10127	hgsc.bcm.edu	37	chr16	3339435	3339435	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaggtgttccgtctgtatGctctgagaacatccaccctc	10	12	2	1	rs220379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3339435G>C	ENST00000219069.5	+	6	1805	c.929G>C	c.(928-930)tGc>tCc	p.C310S	ZNF263_ENST00000574253.1_Missense_Mutation_p.A144P|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	310			C -> S (in dbSNP:rs220379).		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|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)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCGTCTGTATGCTCTGAGAAC	0.522													C|||	1363	0.272165	0.5378	0.3545	5008	,	,		18726	0.0357		0.2634	False		,,,				2504	0.1074				p.C310S		Atlas-SNP	.											.	ZNF263	58	.	0			c.G929C						PASS	.	C	SER/CYS	2258,2136	573.1+/-383.5	601,1056,540	85	95	92		929	-0.9	0	16	dbSNP_79	92	2111,6489	709.8+/-405.7	253,1605,2442	yes	missense	ZNF263	NM_005741.4	112	854,2661,2982	CC,CG,GG		24.5465,48.6117,33.6232	benign	310/684	3339435	4369,8625	2197	4300	6497	SO:0001583	missense	10127	exon6			CTGTATGCTCTGA	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.929G>C	16.37:g.3339435G>C	ENSP00000219069:p.Cys310Ser	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	103	56	0.543689	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	588	0.2692307692307692	244	0.4959349593495935	131	0.36187845303867405	21	0.03671328671328671	192	0.2532981530343008	C	2.814	-0.246389	0.05867	0.513883	0.245465	ENSG00000006194	ENST00000219069	T	0.04654	3.58	5.49	-0.916	0.10489	.	0.709753	0.12876	N	0.431863	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.05525	T	0.97	.	2.0718	0.03615	0.1501:0.2518:0.3966:0.2015	rs220379;rs220379	310	O14978	ZN263_HUMAN	S	310	ENSP00000219069:C310S	ENSP00000219069:C310S	C	+	2	0	ZNF263	3279436	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.858000	0.04281	-0.156000	0.11079	-0.120000	0.15030	TGC	G|0.701;C|0.299	0.299	strong		0.522	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			C	3339435	G	C	3339435	3	2	22	1	0	0	0	0	1	0	0	0	17800	1319	46	4	951	4	ZNF263	16	3339435	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56967	3339435	87015318	8063	13171										
TIGD7	91151	hgsc.bcm.edu	37	chr16	3349300	3349300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatctccatttaaccacaCcctatcatcatccaacttag	1	15	4	0	rs151295470		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3349300C>G	ENST00000396862.1	-	2	3143	c.1315G>C	c.(1315-1317)Gtg>Ctg	p.V439L	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.V439L	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	439						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTAACCACACCCTATCATCA	0.383																																					p.V439L		Atlas-SNP	.											.	TIGD7	41	.	0			c.G1315C						PASS	.	C	LEU/VAL	3,4391	6.2+/-15.9	0,3,2194	162	174	170		1315	-0.7	0	16	dbSNP_134	170	0,8600		0,0,4300	yes	missense	TIGD7	NM_033208.3	32	0,3,6494	GG,GC,CC		0.0,0.0683,0.0231	possibly-damaging	439/550	3349300	3,12991	2197	4300	6497	SO:0001583	missense	91151	exon2			ACCACACCCTATC	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1315G>C	16.37:g.3349300C>G	ENSP00000380071:p.Val439Leu	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	300	142	0.473333	NM_033208	Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253366	0.01457	6.83E-4	0.0	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.31510	1.49;1.49	4.88	-0.699	0.11277	.	1.396770	0.05259	U	0.515337	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.26503	-1.0101	10	0.26408	T	0.33	.	7.8653	0.29533	0.0:0.5056:0.0:0.4944	.	439	Q6NT04	TIGD7_HUMAN	L	439	ENSP00000380071:V439L;ENSP00000268674:V439L	ENSP00000268674:V439L	V	-	1	0	TIGD7	3289301	0.005000	0.15991	0.001000	0.08648	0.291000	0.27294	-0.189000	0.09629	-0.110000	0.12022	-0.150000	0.13652	GTG	C|1.000;G|0.000	0.000	weak		0.383	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		G	3349300	C	G	3349300	3	3	22	1	0	0	0	0	1	0	0	0	15898	507	18	4	338	4	TIGD7	16	3349300	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9865	3349300	87005453	8064	13172										
ZNF597	146434	hgsc.bcm.edu	37	chr16	3486736	3486736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcgctgcagcgttcagaGtcctcgtcgtggctcttctc	10	14	4	1	rs34461484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3486736G>A	ENST00000301744.4	-	4	1198	c.963C>T	c.(961-963)gaC>gaT	p.D321D		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGCGTTCAGAGTCCTCGTCGT	0.488													G|||	102	0.0203674	0.0726	0.0072	5008	,	,		20540	0.0		0.001	False		,,,				2504	0.0				p.D321D		Atlas-SNP	.											.	ZNF597	41	.	0			c.C963T						PASS	.	G		239,4155	141.9+/-177.2	4,231,1962	70	66	67		963	-7.5	0	16	dbSNP_126	67	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ZNF597	NM_152457.1		4,236,6257	AA,AG,GG		0.0581,5.4392,1.8778		321/425	3486736	244,12750	2197	4300	6497	SO:0001819	synonymous_variant	146434	exon4			TTCAGAGTCCTCG	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.963C>T	16.37:g.3486736G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_152457		Silent	SNP	ENST00000301744.4	37	CCDS10505.1																																																																																			G|0.985;A|0.015	0.015	strong		0.488	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		A	3486736	G	A	3486736	2	1	22	1	0	0	0	0	0	0	0	1	18024	1020	36	2		2	ZNF597	16	3486736	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	137436	3486736	86868017	8065	13173										
CLUAP1	23059	hgsc.bcm.edu	37	chr16	3554799	3554799	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtacacccaattttggactTgtatctgaagtgcttctctg	8	10	2	1	rs34672214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3554799T>C	ENST00000576634.1	+	2	246	c.102T>C	c.(100-102)ctT>ctC	p.L34L	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000341633.5_Silent_p.L34L|CLUAP1_ENST00000571025.1_Silent_p.L34L|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	34					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATTTTGGACTTGTATCTGAAG	0.383													T|||	283	0.0565096	0.115	0.0331	5008	,	,		19316	0.0556		0.0159	False		,,,				2504	0.0368				p.L34L		Atlas-SNP	.											.	CLUAP1	32	.	0			c.T102C						PASS	.	T		427,3967	207.5+/-228.8	19,389,1789	111	109	110		102	3.1	1	16	dbSNP_126	110	138,8462	69.0+/-131.5	0,138,4162	no	coding-synonymous	CLUAP1	NM_015041.1		19,527,5951	CC,CT,TT		1.6047,9.7178,4.3482		34/414	3554799	565,12429	2197	4300	6497	SO:0001819	synonymous_variant	23059	exon2			TGGACTTGTATCT	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.102T>C	16.37:g.3554799T>C		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	192	84	0.4375	NM_015041	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																			T|0.955;C|0.045	0.045	strong		0.383	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		C	3554799	T	C	3554799	2	2	22	1	0	0	0	0	0	0	0	1	3569	1799	63	2		2	CLUAP1	16	3554799	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	68063	3554799	86799954	8066	13174										
CLUAP1	23059	hgsc.bcm.edu	37	chr16	3556398	3556398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgagttttcttcattaagGcaattgcccagttcatggtt	8	9	3	0	rs34115694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3556398G>T	ENST00000576634.1	+	3	346	c.202G>T	c.(202-204)Gca>Tca	p.A68S	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A68S|CLUAP1_ENST00000571025.1_Missense_Mutation_p.A68S|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	68			A -> S (in dbSNP:rs34115694).		cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CTTCATTAAGGCAATTGCCCA	0.438													G|||	130	0.0259585	0.0968	0.0029	5008	,	,		18976	0.0		0.0	False		,,,				2504	0.0				p.A68S		Atlas-SNP	.											.	CLUAP1	32	.	0			c.G202T						PASS	.	G	SER/ALA	337,4057	178.7+/-207.4	8,321,1868	158	139	146		202	5.5	1	16	dbSNP_126	146	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CLUAP1	NM_015041.1	99	8,324,6165	TT,TG,GG		0.0349,7.6695,2.6166	benign	68/414	3556398	340,12654	2197	4300	6497	SO:0001583	missense	23059	exon3			ATTAAGGCAATTG	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.202G>T	16.37:g.3556398G>T	ENSP00000460850:p.Ala68Ser	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	101	63	0.623762	NM_015041	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	60	0.027472527472527472	59	0.11991869918699187	1	0.0027624309392265192	0	0.0	0	0.0	G	16.19	3.053615	0.55218	0.076695	3.49E-4	ENSG00000103351	ENST00000341633	T	0.43688	0.94	5.49	5.49	0.81192	.	0.046661	0.85682	D	0.000000	T	0.00384	0.0012	N	0.11789	0.175	0.80722	D	1	P	0.39903	0.694	B	0.39339	0.297	T	0.03969	-1.0988	10	0.12766	T	0.61	-16.0476	17.213	0.86935	0.0:0.0:1.0:0.0	rs34115694	68	Q96AJ1	CLUA1_HUMAN	S	68	ENSP00000344392:A68S	ENSP00000344392:A68S	A	+	1	0	CLUAP1	3496399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.503000	0.81632	2.745000	0.94114	0.557000	0.71058	GCA	G|0.974;T|0.026	0.026	strong		0.438	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		T	3556398	G	T	3556398	3	4	22	1	0	0	0	0	1	0	0	0	3569	1203	42	4	212	4	CLUAP1	16	3556398	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1599	3556398	86798355	8067	13175										
CLUAP1	23059	hgsc.bcm.edu	37	chr16	3576475	3576475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagagaagcgcctgctcAagagtggaagtaaggctggg	17	6	1	2	rs35603863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3576475A>C	ENST00000576634.1	+	9	1063	c.919A>C	c.(919-921)Aag>Cag	p.K307Q	CLUAP1_ENST00000341633.5_Missense_Mutation_p.K307Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.K141Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.K66Q|CLUAP1_ENST00000571025.1_Missense_Mutation_p.K307Q|CLUAP1_ENST00000417763.2_Missense_Mutation_p.K141Q	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	307					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCGCCTGCTCAAGAGTGGAAG	0.418													A|||	78	0.0155751	0.056	0.0058	5008	,	,		15679	0.0		0.0	False		,,,				2504	0.0				p.K307Q		Atlas-SNP	.											.	CLUAP1	32	.	0			c.A919C						PASS	.	A	GLN/LYS,GLN/LYS	223,4171	127.0+/-164.0	5,213,1979	53	52	52		919,421	4.3	1	16	dbSNP_126	52	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CLUAP1	NM_015041.1,NM_024793.1	53,53	5,214,6278	CC,CA,AA		0.0116,5.0751,1.7239	benign,benign	307/414,141/248	3576475	224,12770	2197	4300	6497	SO:0001583	missense	23059	exon9			CTGCTCAAGAGTG	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.919A>C	16.37:g.3576475A>C	ENSP00000460850:p.Lys307Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	107	55	0.514019	NM_015041	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	A	11.85	1.761898	0.31228	0.050751	1.16E-4	ENSG00000103351	ENST00000341633;ENST00000417763;ENST00000445795	T;T;T	0.47869	1.55;0.83;0.84	5.41	4.3	0.51218	.	0.180820	0.64402	D	0.000017	T	0.09905	0.0243	M	0.64997	1.995	0.42629	D	0.993376	P;P;P	0.46706	0.813;0.498;0.883	B;B;B	0.41860	0.368;0.202;0.255	T	0.05683	-1.0870	10	0.14252	T	0.57	-26.918	10.7228	0.46050	0.8398:0.1602:0.0:0.0	rs35603863	141;307;66	Q96AJ1-2;Q96AJ1;B4DFY1	.;CLUA1_HUMAN;.	Q	307;141;66	ENSP00000344392:K307Q;ENSP00000388642:K141Q;ENSP00000397710:K66Q	ENSP00000344392:K307Q	K	+	1	0	CLUAP1	3516476	1.000000	0.71417	0.972000	0.41901	0.260000	0.26232	5.607000	0.67648	0.877000	0.35895	0.523000	0.50628	AAG	A|0.981;C|0.019	0.019	strong		0.418	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		C	3576475	A	C	3576475	3	2	22	1	0	0	0	0	1	0	0	0	3569	131	5	5	953	5	CLUAP1	16	3576475	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20077	3576475	86778278	8068	13176										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3594296	3594296	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgcacgggccaccgcacaCgctccgtcatccccgatggc	11	18	1	0	rs35402060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3594296C>T	ENST00000301749.7	-	0	3210				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCGCACACGCTCCGTCAT	0.597													C|||	292	0.0583067	0.059	0.072	5008	,	,		17948	0.0556		0.0636	False		,,,				2504	0.045				p.A935A		Atlas-SNP	.											.	NLRC3	103	.	0			c.G2805A						PASS	.	C		259,3945		8,243,1851	72	78	76		2806	-10.3	0	16	dbSNP_126	76	558,7900		14,530,3685	yes	coding-synonymous	NLRC3	NM_178844.2		22,773,5536	TT,TC,CC		6.5973,6.1608,6.4524		935/1066	3594296	817,11845	2102	4229	6331			197358	exon17			CGCACACGCTCCG	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594296C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37																																																																																				C|0.947;T|0.053	0.053	strong		0.597	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3594296	C	T	3594296	1	4	22	0	1	0	0	0	0	0	0	0	10468	523	19	1		1	NLRC3	16	3594296	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17821	3594296	86760457	8069	13177										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3599220	3599220	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggactgatggagttttctCgaaggctgaaaaaaaaggaa	13	5	1	2	rs373104014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3599220C>T	ENST00000301749.7	-	0	2930				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGTTTTCTCGAAGGCTGAA	0.562													C|||	11	0.00219649	0.0083	0.0	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.0				p.R842Q		Atlas-SNP	.											.	NLRC3	103	.	0			c.G2525A						PASS	.	C	GLN/ARG	10,3958		0,10,1974	36	37	37		2526	4.9	0.6	16		37	0,8318		0,0,4159	no	missense	NLRC3	NM_178844.2	43	0,10,6133	TT,TC,CC		0.0,0.252,0.0814	probably-damaging	842/1066	3599220	10,12276	1984	4159	6143			197358	exon14			TTTTCTCGAAGGC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3599220C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	C	18.58	3.655008	0.67472	0.00252	0.0	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.54071	0.59;0.6;0.59	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	T	0.52370	0.1730	N	0.13003	0.285	0.23227	N	0.998083	D;D	0.69078	0.997;0.961	D;P	0.76071	0.987;0.818	T	0.45542	-0.9254	10	0.15499	T	0.54	.	13.7484	0.62890	0.0:1.0:0.0:0.0	.	842;888	Q7RTR2;C9JLH9	NLRC3_HUMAN;.	Q	842;841;888	ENSP00000301749:R842Q;ENSP00000352039:R841Q;ENSP00000414415:R888Q	ENSP00000301749:R842Q	R	-	2	0	NLRC3	3539221	1.000000	0.71417	0.612000	0.29024	0.688000	0.40055	4.089000	0.57685	2.313000	0.78055	0.558000	0.71614	CGA	.	.	weak		0.562	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3599220	C	T	3599220	1	4	22	0	1	0	0	0	0	0	0	0	10468	884	31	1		1	NLRC3	16	3599220	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4924	3599220	86755533	8070	13178										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3606947	3606947	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcggttgatcttcaaagcGtctgccagcgccttggcccc	12	14	3	1	rs116349864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3606947G>T	ENST00000301749.7	-	0	2553				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTTCAAAGCGTCTGCCAGCG	0.582													g|||	78	0.0155751	0.056	0.0058	5008	,	,		18998	0.0		0.0	False		,,,				2504	0.0				p.D716E		Atlas-SNP	.											.	NLRC3	103	.	0			c.C2148A						PASS	.	A	GLU/ASP	187,3749		5,177,1786	78	87	84		2148	-7	0.6	16	dbSNP_132	84	1,8305		0,1,4152	yes	missense	NLRC3	NM_178844.2	45	5,178,5938	TT,TG,GG		0.012,4.751,1.5357	benign	716/1066	3606947	188,12054	1968	4153	6121			197358	exon8			CAAAGCGTCTGCC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3606947G>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	46	0.511111	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	g	13.03	2.114951	0.37339	0.04751	1.2E-4	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.50548	0.74;0.74;0.74	5.37	-6.97	0.01616	.	0.127878	0.52532	N	0.000077	T	0.04318	0.0119	.	.	.	0.20563	N	0.999887	B	0.28026	0.198	B	0.34138	0.176	T	0.15780	-1.0425	9	0.18276	T	0.48	.	7.4907	0.27460	0.6283:0.0:0.1808:0.1909	.	763	C9JLH9	.	E	716;716;716;763	ENSP00000301749:D716E;ENSP00000352039:D716E;ENSP00000414415:D763E	ENSP00000301749:D716E	D	-	3	2	NLRC3	3546948	0.002000	0.14202	0.606000	0.28943	0.419000	0.31324	-1.356000	0.02609	-1.733000	0.01357	-2.239000	0.00288	GAC	G|0.985;T|0.015	0.015	strong		0.582	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3606947	G	T	3606947	1	4	22	0	1	0	0	0	0	0	0	0	10468	1136	40	4		4	NLRC3	16	3606947	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7727	3606947	86747806	8071	13179										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3613239	3613239	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgcaggcagtgcaacaCgttgatggcccgtgcacaga	12	12	1	2	rs8057436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3613239C>T	ENST00000301749.7	-	0	2104				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGTGCAACACGTTGATGGCC	0.706													C|||	189	0.0377396	0.1331	0.0144	5008	,	,		16561	0.0		0.001	False		,,,				2504	0.002				p.V567M		Atlas-SNP	.											.	NLRC3	103	.	0			c.G1699A						PASS	.	C	MET/VAL	433,3803		13,407,1698	12	15	14		1699	-7.5	0	16	dbSNP_116	14	27,8409		0,27,4191	yes	missense	NLRC3	NM_178844.2	21	13,434,5889	TT,TC,CC		0.3201,10.2219,3.6301	benign	567/1066	3613239	460,12212	2118	4218	6336			197358	exon5			GCAACACGTTGAT	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613239C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	32	20	0.625	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		69	0.03159340659340659	61	0.12398373983739837	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	2.395	-0.338967	0.05243	0.102219	0.003201	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.1	-7.47	0.01365	.	0.710025	0.13675	N	0.370619	T	0.03011	0.0089	.	.	.	0.09310	N	1	B	0.23650	0.089	B	0.20577	0.03	T	0.23691	-1.0181	9	0.46703	T	0.11	.	11.4138	0.49941	0.0:0.2375:0.0978:0.6647	rs8057436;rs8057436	614	C9JLH9	.	M	567;567;567;614;549	ENSP00000301749:V567M;ENSP00000352039:V567M;ENSP00000414415:V614M;ENSP00000323897:V549M	ENSP00000301749:V567M	V	-	1	0	NLRC3	3553240	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.154000	0.00580	-1.430000	0.01985	-0.812000	0.03155	GTG	C|0.969;T|0.031	0.031	strong		0.706	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3613239	C	T	3613239	1	4	22	0	1	0	0	0	0	0	0	0	10468	536	19	1		1	NLRC3	16	3613239	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6292	3613239	86741514	8072	13180										
NLRC3	197358	hgsc.bcm.edu	37	chr16	3613690	3613690	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgccttcatgtcttgctcGtaaaacacgtatttcttctt	5	11	4	0	rs144685315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3613690G>A	ENST00000301749.7	-	0	1653				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCTTGCTCGTAAAACACGT	0.602													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20370	0.0		0.0	False		,,,				2504	0.0				p.Y416Y		Atlas-SNP	.											.	NLRC3	103	.	0			c.C1248T						PASS	.	G		28,4006		0,28,1989	62	62	62		1248	-6.6	0.9	16	dbSNP_134	62	0,8352		0,0,4176	no	coding-synonymous	NLRC3	NM_178844.2		0,28,6165	AA,AG,GG		0.0,0.6941,0.2261		416/1066	3613690	28,12358	2017	4176	6193			197358	exon5			TTGCTCGTAAAAC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613690G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37																																																																																				G|0.999;A|0.001	0.001	strong		0.602	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		A	3613690	G	A	3613690	1	1	22	0	1	0	0	0	0	0	0	0	10468	1140	40	1		1	NLRC3	16	3613690	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	451	3613690	86741063	8073	13181										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3640274	3640274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgggttaggtcaatagacGgagatttttctgggaacatc	12	6	2	2	rs714181	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3640274G>A	ENST00000294008.3	-	12	4005	c.3365C>T	c.(3364-3366)cCg>cTg	p.P1122L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1122	Interaction with PLK1 and TERF2-TERF2IP.		P -> L (in dbSNP:rs714181). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTCAATAGACGGAGATTTTTC	0.493								Direct reversal of damage					A|||	1200	0.239617	0.5484	0.147	5008	,	,		18117	0.0843		0.0865	False		,,,				2504	0.2055				p.P1122L		Atlas-SNP	.											.	SLX4	173	.	0			c.C3365T						PASS	.	A	LEU/PRO	2027,2367	610.6+/-391.6	463,1101,633	104	99	101		3365	-0.7	0	16	dbSNP_86	101	723,7877	786.7+/-407.6	23,677,3600	yes	missense	SLX4	NM_032444.2	98	486,1778,4233	AA,AG,GG		8.407,46.1311,21.1636	benign	1122/1835	3640274	2750,10244	2197	4300	6497	SO:0001583	missense	84464	exon12			ATAGACGGAGATT	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3365C>T	16.37:g.3640274G>A	ENSP00000294008:p.Pro1122Leu	Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	431	0.19734432234432234	272	0.5528455284552846	55	0.15193370165745856	48	0.08391608391608392	56	0.07387862796833773	A	2.635	-0.285532	0.05605	0.461311	0.08407	ENSG00000188827	ENST00000294008	T	0.16897	2.31	6.07	-0.664	0.11406	.	0.670897	0.14312	N	0.327602	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.41928	-0.9481	9	0.22706	T	0.39	.	6.0854	0.19964	0.3816:0.0:0.4976:0.1208	rs714181;rs17857104;rs52826780;rs60671054;rs714181	1122	Q8IY92	SLX4_HUMAN	L	1122	ENSP00000294008:P1122L	ENSP00000294008:P1122L	P	-	2	0	SLX4	3580275	0.001000	0.12720	0.000000	0.03702	0.605000	0.37080	0.088000	0.14979	-0.331000	0.08501	-0.254000	0.11334	CCG	G|0.785;N|0.000	.	strong		0.493	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3640274	G	A	3640274	3	1	22	1	0	0	0	0	1	0	0	0	1540	1116	39	1	2155	1	BTBD12	16	3640274	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26584	3640274	86714479	8074	13182										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3640785	3640785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctggaatggccaagcgCctcctctggcgcctcctgct	12	16	1	0	rs59939128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3640785C>T	ENST00000294008.3	-	12	3494	c.2854G>A	c.(2854-2856)Gcg>Acg	p.A952T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	952	Interaction with PLK1 and TERF2-TERF2IP.		A -> M (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGCCAAGCGCCTCCTCTGGC	0.647								Direct reversal of damage					C|||	336	0.0670927	0.0961	0.0764	5008	,	,		16756	0.0496		0.0646	False		,,,				2504	0.0419				p.A952T		Atlas-SNP	.											SLX4,NS,carcinoma,+2,1	SLX4	173	1	0			c.G2854A						PASS	.	C	THR/ALA	476,3918	215.1+/-234.2	27,422,1748	47	50	49		2854	-1.4	0	16	dbSNP_129	49	562,8038	137.9+/-194.8	14,534,3752	no	missense	SLX4	NM_032444.2	58	41,956,5500	TT,TC,CC		6.5349,10.833,7.9883	probably-damaging	952/1835	3640785	1038,11956	2197	4300	6497	SO:0001583	missense	84464	exon12			CAAGCGCCTCCTC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2854G>A	16.37:g.3640785C>T	ENSP00000294008:p.Ala952Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	152	79	0.519737	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	148	0.06776556776556776	53	0.10772357723577236	24	0.06629834254143646	23	0.04020979020979021	48	0.0633245382585752	C	9.916	1.210756	0.22289	0.10833	0.065349	ENSG00000188827	ENST00000294008	T	0.01369	4.97	4.64	-1.42	0.08913	.	1.163550	0.06146	N	0.673336	T	0.00039	0.0001	L	0.42245	1.32	0.09310	N	1	B	0.21452	0.056	B	0.19666	0.026	T	0.47799	-0.9089	10	0.27082	T	0.32	.	1.7256	0.02921	0.1415:0.4632:0.1378:0.2575	rs59939128	952	Q8IY92	SLX4_HUMAN	T	952	ENSP00000294008:A952T	ENSP00000294008:A952T	A	-	1	0	SLX4	3580786	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.014000	0.12656	-0.235000	0.09767	0.549000	0.68633	GCG	C|0.927;T|0.073	0.073	strong		0.647	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3640785	C	T	3640785	3	4	22	1	0	0	0	0	1	0	0	0	1540	739	26	2	2666	2	BTBD12	16	3640785	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	511	3640785	86713968	8075	13183										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3640893	3640893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctcccaggtggtggcggCctcatctcttcctggctcca	10	16	3	0	rs79448721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3640893C>A	ENST00000294008.3	-	12	3386	c.2746G>T	c.(2746-2748)Gcc>Tcc	p.A916S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	916	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTGGTGGCGGCCTCATCTCTT	0.657								Direct reversal of damage					C|||	53	0.0105831	0.0393	0.0014	5008	,	,		15331	0.0		0.0	False		,,,				2504	0.0				p.A916S		Atlas-SNP	.											.	SLX4	173	.	0			c.G2746T						PASS	.	C	SER/ALA	146,4248	101.2+/-139.8	3,140,2054	88	89	88		2746	-4.9	0	16	dbSNP_131	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLX4	NM_032444.2	99	3,141,6353	AA,AC,CC		0.0116,3.3227,1.1313	benign	916/1835	3640893	147,12847	2197	4300	6497	SO:0001583	missense	84464	exon12			TGGCGGCCTCATC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2746G>T	16.37:g.3640893C>A	ENSP00000294008:p.Ala916Ser	Somatic	308	0	0		WXS	Illumina HiSeq	Phase_I	343	168	0.489796	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	6.127	0.391716	0.11581	0.033227	1.16E-4	ENSG00000188827	ENST00000294008	T	0.01139	5.28	5.04	-4.9	0.03094	.	1.567630	0.03656	N	0.241881	T	0.00412	0.0013	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.48525	-0.9028	10	0.09843	T	0.71	.	3.8877	0.09105	0.3555:0.2957:0.0:0.3488	.	916	Q8IY92	SLX4_HUMAN	S	916	ENSP00000294008:A916S	ENSP00000294008:A916S	A	-	1	0	SLX4	3580894	0.004000	0.15560	0.000000	0.03702	0.009000	0.06853	-0.251000	0.08818	-1.230000	0.02561	0.561000	0.74099	GCC	C|0.990;A|0.010	0.010	strong		0.657	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3640893	C	A	3640893	3	1	22	1	0	0	0	0	1	0	0	0	1540	739	26	4	2774	4	BTBD12	16	3640893	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108	3640893	86713860	8076	13184										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3645607	3645607	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccagagccagttcttaccAaggtgcggccgcccctgtcc	12	16	1	1	rs77985244	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3645607A>G	ENST00000294008.3	-	9	2652	c.2012T>C	c.(2011-2013)tTg>tCg	p.L671S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	671			L -> S (in dbSNP:rs77985244). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGTTCTTACCAAGGTGCGGCC	0.667								Direct reversal of damage					G|||	311	0.0621006	0.0779	0.0735	5008	,	,		17478	0.0506		0.0646	False		,,,				2504	0.0419				p.L671S		Atlas-SNP	.											.	SLX4	173	.	0			c.T2012C						PASS	.	G	SER/LEU	402,3992	781.3+/-414.5	20,362,1815	40	44	42		2012	0.9	0.1	16	dbSNP_131	42	582,8018	789.1+/-407.6	15,552,3733	yes	missense-near-splice	SLX4	NM_032444.2	145	35,914,5548	GG,GA,AA		6.7674,9.1488,7.5727	benign	671/1835	3645607	984,12010	2197	4300	6497	SO:0001630	splice_region_variant	84464	exon9			CTTACCAAGGTGC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2013+1T>C	16.37:g.3645607A>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	45	21	0.466667	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	140	0.0641025641025641	44	0.08943089430894309	24	0.06629834254143646	24	0.04195804195804196	48	0.0633245382585752	G	1.261	-0.615866	0.03663	0.091488	0.067674	ENSG00000188827	ENST00000294008	T	0.00995	5.46	5.07	0.88	0.19161	.	0.839455	0.10270	N	0.694860	T	0.00012	0.0000	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.15066	T	0.55	.	7.4261	0.27100	0.4675:0.0:0.5325:0.0	.	671	Q8IY92	SLX4_HUMAN	S	671	ENSP00000294008:L671S	ENSP00000294008:L671S	L	-	2	0	SLX4	3585608	0.263000	0.24083	0.107000	0.21349	0.065000	0.16274	0.569000	0.23638	0.028000	0.15324	-0.215000	0.12644	TTG	A|0.932;G|0.068	0.068	strong		0.667	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	Missense_Mutation	G	3645607	A	G	3645607	5	3	22	1	0	0	0	0	0	0	1	0	1540	144	5	2	3520	2	BTBD12	16	3645607	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4714	3645607	86709146	8077	13185										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3647692	3647692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtttcttcttgcgacttttAttctctagagagaaacaaaa	7	7	3	2	rs74319927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3647692A>C	ENST00000294008.3	-	7	2011	c.1371T>G	c.(1369-1371)aaT>aaG	p.N457K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	457	Interaction with SLX4IP, ERCC4 and MSH2.		N -> K (in dbSNP:rs74319927). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCGACTTTTATTCTCTAGAG	0.552								Direct reversal of damage					C|||	275	0.0549121	0.0507	0.0706	5008	,	,		16428	0.0506		0.0656	False		,,,				2504	0.0429				p.N457K		Atlas-SNP	.											.	SLX4	173	.	0			c.T1371G						PASS	.	C	LYS/ASN	264,4124		8,248,1938	42	51	48		1371	5.2	1	16	dbSNP_131	48	581,8017		16,549,3734	yes	missense	SLX4	NM_032444.2	94	24,797,5672	CC,CA,AA		6.7574,6.0164,6.507	benign	457/1835	3647692	845,12141	2194	4299	6493	SO:0001583	missense	84464	exon7			ACTTTTATTCTCT	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1371T>G	16.37:g.3647692A>C	ENSP00000294008:p.Asn457Lys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	54	29	0.537037	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	124	0.056776556776556776	26	0.052845528455284556	24	0.06629834254143646	24	0.04195804195804196	50	0.06596306068601583	C	5.789	0.329828	0.10956	0.060164	0.067574	ENSG00000188827	ENST00000294008	T	0.16324	2.35	5.19	5.19	0.71726	.	0.000000	0.64402	N	0.000011	T	0.00300	0.0009	N	0.00399	-1.545	0.20489	N	0.999898	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	10	0.02654	T	1	.	8.0402	0.30517	0.1615:0.7518:0.0:0.0867	.	457	Q8IY92	SLX4_HUMAN	K	457	ENSP00000294008:N457K	ENSP00000294008:N457K	N	-	3	2	SLX4	3587693	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	0.674000	0.25218	1.195000	0.43115	-0.121000	0.15023	AAT	A|0.941;C|0.059	0.059	strong		0.552	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		C	3647692	A	C	3647692	3	2	22	1	0	0	0	0	1	0	0	0	1540	446	16	5	4169	5	BTBD12	16	3647692	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2085	3647692	86707061	8078	13186										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3650987	3650987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgtcgacttacctgaacaTgggtgggctgctgctaccct	11	12	0	1	rs113490934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3650987T>C	ENST00000294008.3	-	5	1796	c.1156A>G	c.(1156-1158)Atg>Gtg	p.M386V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	386	Interaction with SLX4IP, ERCC4 and MSH2.		M -> V (in dbSNP:rs113490934). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TACCTGAACATGGGTGGGCTG	0.517								Direct reversal of damage					C|||	273	0.0545128	0.0507	0.0706	5008	,	,		19560	0.0506		0.0646	False		,,,				2504	0.0419				p.M386V		Atlas-SNP	.											.	SLX4	173	.	0			c.A1156G						PASS	.	C	VAL/MET	271,4123	783.8+/-414.6	7,257,1933	39	40	40		1156	2.4	0	16	dbSNP_132	40	575,8025	774.0+/-407.7	15,545,3740	yes	missense	SLX4	NM_032444.2	21	22,802,5673	CC,CT,TT		6.686,6.1675,6.5107	benign	386/1835	3650987	846,12148	2197	4300	6497	SO:0001583	missense	84464	exon5			TGAACATGGGTGG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1156A>G	16.37:g.3650987T>C	ENSP00000294008:p.Met386Val	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	146	44	0.30137	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	121	0.0554029304029304	25	0.0508130081300813	24	0.06629834254143646	24	0.04195804195804196	48	0.0633245382585752	C	3.500	-0.102080	0.06967	0.061675	0.06686	ENSG00000188827	ENST00000294008	T	0.18810	2.19	5.46	2.41	0.29592	.	2.158740	0.01671	N	0.025592	T	0.00496	0.0016	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	10	0.02654	T	1	.	5.0684	0.14594	0.145:0.6271:0.0:0.2279	.	386	Q8IY92	SLX4_HUMAN	V	386	ENSP00000294008:M386V	ENSP00000294008:M386V	M	-	1	0	SLX4	3590988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.435000	0.21510	0.084000	0.17077	-0.128000	0.14901	ATG	T|0.945;C|0.055	0.055	strong		0.517	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		C	3650987	T	C	3650987	3	2	22	1	0	0	0	0	1	0	0	0	1540	1464	51	2	4392	2	BTBD12	16	3650987	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3295	3650987	86703766	8079	13187										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3656557	3656557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggagcactcttctgaagcGtgtctcaaacgctcggggtc	13	11	3	1	rs28516461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3656557G>A	ENST00000294008.3	-	3	1318	c.678C>T	c.(676-678)caC>caT	p.H226H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	226	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTCTGAAGCGTGTCTCAAAC	0.542								Direct reversal of damage					G|||	660	0.131789	0.3139	0.0576	5008	,	,		18893	0.0337		0.0179	False		,,,				2504	0.1564				p.H226H		Atlas-SNP	.											.	SLX4	173	.	0			c.C678T						PASS	.	G		1109,3285	399.5+/-331.2	132,845,1220	222	221	221		678	-1.2	0	16	dbSNP_125	221	127,8473	64.2+/-126.4	0,127,4173	no	coding-synonymous	SLX4	NM_032444.2		132,972,5393	AA,AG,GG		1.4767,25.239,9.5121		226/1835	3656557	1236,11758	2197	4300	6497	SO:0001819	synonymous_variant	84464	exon3			TGAAGCGTGTCTC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.678C>T	16.37:g.3656557G>A		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	259	121	0.467181	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																			G|0.891;A|0.109	0.109	strong		0.542	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3656557	G	A	3656557	2	1	22	1	0	0	0	0	0	0	0	1	1540	1136	40	1		1	BTBD12	16	3656557	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5570	3656557	86698196	8080	13188										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3656625	3656625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggaccaattgtgctgtgcGgggtttggagggacttggca	17	6	0	0	rs79842542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3656625G>A	ENST00000294008.3	-	3	1250	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	204	Interaction with SLX4IP, ERCC4 and MSH2.		R -> C (in dbSNP:rs79842542). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTGCTGTGCGGGGTTTGGAG	0.557								Direct reversal of damage					G|||	299	0.0597045	0.0688	0.0735	5008	,	,		19452	0.0506		0.0646	False		,,,				2504	0.0419				p.R204C		Atlas-SNP	.											SLX4,NS,carcinoma,+1,2	SLX4	173	2	0			c.C610T						scavenged	.	G	CYS/ARG	343,4051	177.6+/-206.5	9,325,1863	178	179	179		610	3.1	0.9	16	dbSNP_131	179	583,8017	156.6+/-210.4	15,553,3732	yes	missense	SLX4	NM_032444.2	180	24,878,5595	AA,AG,GG		6.7791,7.8061,7.1264	probably-damaging	204/1835	3656625	926,12068	2197	4300	6497	SO:0001583	missense	84464	exon3			CTGTGCGGGGTTT	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.610C>T	16.37:g.3656625G>A	ENSP00000294008:p.Arg204Cys	Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	255	146	0.572549	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	133	0.060897435897435896	35	0.07113821138211382	26	0.0718232044198895	24	0.04195804195804196	48	0.0633245382585752	G	19.50	3.839913	0.71488	0.078061	0.067791	ENSG00000188827	ENST00000294008	T	0.05139	3.49	5.16	3.11	0.35812	.	0.085562	0.45606	D	0.000360	T	0.00936	0.0031	L	0.55990	1.75	0.46336	D	0.99899	D	0.89917	1.0	D	0.91635	0.999	T	0.00042	-1.2227	10	0.87932	D	0	.	12.8945	0.58091	0.0:0.0:0.6944:0.3056	.	204	Q8IY92	SLX4_HUMAN	C	204	ENSP00000294008:R204C	ENSP00000294008:R204C	R	-	1	0	SLX4	3596626	0.990000	0.36364	0.943000	0.38184	0.776000	0.43924	2.460000	0.45031	0.620000	0.30215	0.655000	0.94253	CGC	G|0.937;A|0.063	0.063	strong		0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3656625	G	A	3656625	3	1	22	1	0	0	0	0	1	0	0	0	1540	1116	39	1	4946	1	BTBD12	16	3656625	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68	3656625	86698128	8081	13189										
DNASE1	1773	hgsc.bcm.edu	37	chr16	3707262	3707262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtggtcatccatccgcctGtggacaagccccaccttcca	8	17	1	0	rs8176920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:3707262G>A	ENST00000246949.5	+	7	3833	c.624G>A	c.(622-624)ctG>ctA	p.L208L	DNASE1_ENST00000407479.1_Silent_p.L208L|DNASE1_ENST00000414110.2_Silent_p.L91L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	208					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CCATCCGCCTGTGGACAAGCC	0.617													G|||	160	0.0319489	0.1195	0.0029	5008	,	,		18167	0.0		0.0	False		,,,				2504	0.0				p.L208L		Atlas-SNP	.											.	DNASE1	16	.	0			c.G624A						PASS	.	G		370,4024	189.9+/-215.9	14,342,1841	86	69	75		624	1.8	1	16	dbSNP_117	75	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DNASE1	NM_005223.3		14,345,6138	AA,AG,GG		0.0349,8.4206,2.8706		208/283	3707262	373,12621	2197	4300	6497	SO:0001819	synonymous_variant	1773	exon7			CCGCCTGTGGACA		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.624G>A	16.37:g.3707262G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_005223	B4DV35|Q14UU9|Q14UV0	Silent	SNP	ENST00000246949.5	37	CCDS10507.1																																																																																			G|0.970;A|0.030	0.030	strong		0.617	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			A	3707262	G	A	3707262	2	1	22	1	0	0	0	0	0	0	0	1	4660	1364	48	2		2	DNASE1	16	3707262	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50637	3707262	86647491	8082	13190										
ADCY9	115	hgsc.bcm.edu	37	chr16	4016943	4016943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaggtcacgcggcaccgaActattgcacgggttcctctc	12	14	2	0	rs2230741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4016943A>G	ENST00000294016.3	-	11	3433	c.2895T>C	c.(2893-2895)agT>agC	p.S965S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	965					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCGGCACCGAACTATTGCACG	0.607													G|||	849	0.169529	0.3835	0.0504	5008	,	,		17025	0.2371		0.0268	False		,,,				2504	0.0419				p.S965S		Atlas-SNP	.											.	ADCY9	151	.	0			c.T2895C						PASS	.	G		1328,3050		205,918,1066	39	45	43		2895	3.2	0.8	16	dbSNP_107	43	248,8330		8,232,4049	no	coding-synonymous	ADCY9	NM_001116.3		213,1150,5115	GG,GA,AA		2.8911,30.3335,12.1642		965/1354	4016943	1576,11380	2189	4289	6478	SO:0001819	synonymous_variant	115	exon11			CACCGAACTATTG	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2895T>C	16.37:g.4016943A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	75	45	0.6	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			A|0.856;G|0.144	0.144	strong		0.607	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			G	4016943	A	G	4016943	2	3	22	1	0	0	0	0	0	0	0	1	301	40	2	2		2	ADCY9	16	4016943	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	309681	4016943	86337810	8083	13191										
ADCY9	115	hgsc.bcm.edu	37	chr16	4043415	4043415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcttgttaccttggtgcTgtttttatgctcgtcttggc	11	8	1	1	rs113187435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4043415T>C	ENST00000294016.3	-	4	2519	c.1981A>G	c.(1981-1983)Agc>Ggc	p.S661G	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	661					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTTGGTGCTGTTTTTATGC	0.532													T|||	37	0.00738818	0.0272	0.0014	5008	,	,		19275	0.0		0.0	False		,,,				2504	0.0				p.S661G		Atlas-SNP	.											.	ADCY9	151	.	0			c.A1981G						PASS	.	T	GLY/SER	111,4283	85.8+/-124.5	1,109,2087	235	202	213		1981	4.2	0.8	16	dbSNP_132	213	0,8600		0,0,4300	yes	missense	ADCY9	NM_001116.3	56	1,109,6387	CC,CT,TT		0.0,2.5262,0.8542	benign	661/1354	4043415	111,12883	2197	4300	6497	SO:0001583	missense	115	exon4			TGGTGCTGTTTTT	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1981A>G	16.37:g.4043415T>C	ENSP00000294016:p.Ser661Gly	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	245	116	0.473469	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	T	11.87	1.769081	0.31320	0.025262	0.0	ENSG00000162104	ENST00000294016	D	0.84070	-1.8	5.36	4.24	0.50183	.	0.368925	0.31884	N	0.006919	T	0.43366	0.1244	N	0.14661	0.345	0.31169	N	0.703441	B	0.02656	0.0	B	0.01281	0.0	T	0.54977	-0.8212	10	0.28530	T	0.3	.	8.1862	0.31341	0.0:0.1581:0.0:0.8419	.	661	O60503	ADCY9_HUMAN	G	661	ENSP00000294016:S661G	ENSP00000294016:S661G	S	-	1	0	ADCY9	3983416	1.000000	0.71417	0.842000	0.33263	0.993000	0.82548	1.848000	0.39309	0.845000	0.35118	0.445000	0.29226	AGC	T|0.991;C|0.009	0.009	strong		0.532	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			C	4043415	T	C	4043415	3	2	22	1	0	0	0	0	1	0	0	0	301	1580	55	3	2112	3	ADCY9	16	4043415	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26472	4043415	86311338	8084	13192										
SRL	6345	hgsc.bcm.edu	37	chr16	4245656	4245656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgccaatcagcttctctaGgaaattctggccaaacttct	6	11	4	0	rs76988584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4245656G>A	ENST00000399609.3	-	5	520	c.508C>T	c.(508-510)Cta>Tta	p.L170L	SRL_ENST00000537996.1_Silent_p.L128L	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	629	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGCTTCTCTAGGAAATTCTGG	0.522													G|||	95	0.0189696	0.0703	0.0029	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.0				p.L170L		Atlas-SNP	.											.	SRL	56	.	0			c.C508T						PASS	.	G		177,3613		5,167,1723	102	102	102		508	4.1	1	16	dbSNP_131	102	1,8253		0,1,4126	no	coding-synonymous	SRL	NM_001098814.1		5,168,5849	AA,AG,GG		0.0121,4.6702,1.4779		170/474	4245656	178,11866	1895	4127	6022	SO:0001819	synonymous_variant	6345	exon5			TCTCTAGGAAATT	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.508C>T	16.37:g.4245656G>A		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	248	118	0.475806	NM_001098814		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																			G|0.992;A|0.008	0.008	strong		0.522	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		A	4245656	G	A	4245656	2	1	22	1	0	0	0	0	0	0	0	1	15149	991	35	2		2	SRL	16	4245656	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	202241	4245656	86109097	8085	13193										
SRL	6345	hgsc.bcm.edu	37	chr16	4245693	4245693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcaaggggtgagaaggaAcgggcgctgtcagcagccat	15	9	2	1	rs10852643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4245693A>G	ENST00000399609.3	-	5	483	c.471T>C	c.(469-471)cgT>cgC	p.R157R	SRL_ENST00000537996.1_Silent_p.R115R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	616	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GTGAGAAGGAACGGGCGCTGT	0.542													G|||	4073	0.813299	0.9652	0.7147	5008	,	,		16758	0.755		0.7286	False		,,,				2504	0.8252				p.R157R		Atlas-SNP	.											.	SRL	56	.	0			c.T471C						PASS	.	G		3670,306		1698,274,16	79	84	82		471	-5.6	0.7	16	dbSNP_120	82	5902,2418		2102,1698,360	no	coding-synonymous	SRL	NM_001098814.1		3800,1972,376	GG,GA,AA		29.0625,7.6962,22.1535		157/474	4245693	9572,2724	1988	4160	6148	SO:0001819	synonymous_variant	6345	exon5			GAAGGAACGGGCG	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.471T>C	16.37:g.4245693A>G		Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	201	200	0.995025	NM_001098814		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																			A|0.226;G|0.774	0.774	strong		0.542	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		G	4245693	A	G	4245693	2	3	22	1	0	0	0	0	0	0	0	1	15149	30	2	2		2	SRL	16	4245693	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37	4245693	86109060	8086	13194										
VASN	114990	hgsc.bcm.edu	37	chr16	4431880	4431880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacttcccgcccaagaaCgctggccggctgctcctgga	11	17	0	1	rs13333950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4431880C>T	ENST00000304735.3	+	2	1157	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N	CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	334	LRRCT.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CGCCCAAGAACGCTGGCCGGC	0.692													C|||	177	0.0353435	0.1309	0.0058	5008	,	,		14062	0.0		0.0	False		,,,				2504	0.0				p.N334N		Atlas-SNP	.											.	VASN	21	.	0			c.C1002T						PASS	.	C	,,,,	532,3842		38,456,1693	19	22	21		,,,,1002	-11.3	0.1	16	dbSNP_121	21	1,8583		0,1,4291	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	38,457,5984	TT,TC,CC		0.0116,12.1628,4.1133	,,,,	,,,,334/674	4431880	533,12425	2187	4292	6479	SO:0001819	synonymous_variant	114990	exon2			CAAGAACGCTGGC	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1002C>T	16.37:g.4431880C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	58	31	0.534483	NM_138440	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																			C|0.962;T|0.038	0.038	strong		0.692	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		T	4431880	C	T	4431880	2	4	22	1	0	0	0	0	0	0	0	1	17124	535	19	1		1	VASN	16	4431880	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	186187	4431880	85922873	8087	13195										
DNAJA3	9093	hgsc.bcm.edu	37	chr16	4492415	4492415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccactactgtggcggctcCggcatggtaaggctctgccc	13	14	1	0	rs141270066		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4492415C>T	ENST00000262375.6	+	5	854	c.777C>T	c.(775-777)tcC>tcT	p.S259S	DNAJA3_ENST00000431375.2_Silent_p.S106S|DNAJA3_ENST00000355296.4_Silent_p.S259S	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	259					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GTGGCGGCTCCGGCATGGTAA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.0				p.S259S		Atlas-SNP	.											.	DNAJA3	52	.	0			c.C777T						PASS	.	C	,	1,4393		0,1,2196	50	44	46		777,777	-11.2	0.1	16	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DNAJA3	NM_001135110.2,NM_005147.5	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	259/454,259/481	4492415	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9093	exon5			CGGCTCCGGCATG	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.777C>T	16.37:g.4492415C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	127	66	0.519685	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	ENST00000262375.6	37	CCDS10515.1																																																																																			C|1.000;T|0.000	0.000	weak		0.607	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			T	4492415	C	T	4492415	2	4	22	1	0	0	0	0	0	0	0	1	4613	639	23	1		1	DNAJA3	16	4492415	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60535	4492415	85862338	8088	13196										
ANKS3	124401	hgsc.bcm.edu	37	chr16	4748825	4748825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctggatggcgagctcCtgcatctcagcctccagccg	12	15	1	0	rs841214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4748825C>T	ENST00000304283.4	-	13	1821	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	ANKS3_ENST00000585773.1_Silent_p.Q436Q|ANKS3_ENST00000446014.2_Silent_p.Q380Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	509										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGGCGAGCTCCTGCATCTCAG	0.667													C|||	2028	0.404952	0.146	0.4611	5008	,	,		13432	0.624		0.4602	False		,,,				2504	0.4325				p.Q509Q		Atlas-SNP	.											ANKS3,NS,carcinoma,0,1	ANKS3	44	1	0			c.G1527A						PASS	.	C	,	955,3437		106,743,1347	49	61	57		1206,1527	2.2	1	16	dbSNP_86	57	4020,4576		994,2032,1272	no	coding-synonymous,coding-synonymous	ANKS3	NM_001242929.1,NM_133450.3	,	1100,2775,2619	TT,TC,CC		46.7659,21.7441,38.3046	,	402/550,509/657	4748825	4975,8013	2196	4298	6494	SO:0001819	synonymous_variant	124401	exon13			GAGCTCCTGCATC	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1527G>A	16.37:g.4748825C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	73	36	0.493151	NM_133450	B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	CCDS10520.1																																																																																			C|0.602;T|0.398	0.398	strong		0.667	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		T	4748825	C	T	4748825	2	4	22	1	0	0	0	0	0	0	0	1	690	680	24	2		2	ANKS3	16	4748825	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	256410	4748825	85605928	8089	13197										
C16orf71	146562	hgsc.bcm.edu	37	chr16	4790304	4790304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgggatggccgaggagCcccccaggtggctggaaggc	17	11	1	0	rs527269249|rs17137230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4790304C>T	ENST00000299320.5	+	4	905	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.P157S	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	143			P -> S (in dbSNP:rs17137230).							breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCGAGGAGCCCCCCAGGTG	0.597													A|||	66	0.0131789	0.0469	0.0058	5008	,	,		15525	0.0		0.0	False		,,,				2504	0.0				p.P143S		Atlas-SNP	.											.	C16orf71	46	.	0			c.C427T						PASS	.	A	SER/PRO	250,4144		11,228,1958	67	74	72		427	3	0.2	16	dbSNP_123	72	3,8597		0,3,4297	yes	missense	C16orf71	NM_139170.2	74	11,231,6255	TT,TC,CC		0.0349,5.6896,1.9471	benign	143/521	4790304	253,12741	2197	4300	6497	SO:0001583	missense	146562	exon4			GAGGAGCCCCCCA	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.427C>T	16.37:g.4790304C>T	ENSP00000299320:p.Pro143Ser	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	192	103	0.536458	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	A	14.78	2.636363	0.47049	0.056896	3.49E-4	ENSG00000166246	ENST00000299320	T	0.08807	3.05	4.05	2.95	0.34219	.	0.488693	0.16973	N	0.192010	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	10	0.23891	T	0.37	-3.9933	3.8797	0.09072	0.6631:0.2192:0.1178:0.0	rs17137230;rs52805275;rs17137230	143	Q8IYS4	CP071_HUMAN	S	143	ENSP00000299320:P143S	ENSP00000299320:P143S	P	+	1	0	C16orf71	4730305	0.001000	0.12720	0.189000	0.23252	0.035000	0.12851	0.195000	0.17155	0.253000	0.21552	-0.559000	0.04183	CCC	C|0.980;T|0.020	0.020	strong		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		T	4790304	C	T	4790304	3	4	22	1	0	0	0	0	1	0	0	0	1830	739	26	2	437	2	C16orf71	16	4790304	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41479	4790304	85564449	8090	13198										
ZNF500	26048	hgsc.bcm.edu	37	chr16	4810583	4810583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacgtcctccaagttcaCgggcacctgccagaacgcac	9	17	1	1	rs151148153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4810583C>T	ENST00000219478.6	-	5	969	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	ZNF500_ENST00000545009.1_Missense_Mutation_p.V224M			O60304	ZN500_HUMAN	zinc finger protein 500	224	KRAB.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCAAGTTCACGGGCACCTGC	0.632													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		20443	0.0		0.0	False		,,,				2504	0.0				p.V224M		Atlas-SNP	.											.	ZNF500	45	.	0			c.G670A						PASS	.	C	MET/VAL	65,4329	61.1+/-98.1	0,65,2132	96	79	85		670	3.2	0.1	16	dbSNP_134	85	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZNF500	NM_021646.1	21	0,71,6426	TT,TC,CC		0.0698,1.4793,0.5464	possibly-damaging	224/481	4810583	71,12923	2197	4300	6497	SO:0001583	missense	26048	exon5			AGTTCACGGGCAC	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.670G>A	16.37:g.4810583C>T	ENSP00000219478:p.Val224Met	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	108	45	0.416667	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	14.40	2.524884	0.44969	0.014793	6.98E-4	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05925	3.37;3.37	3.16	3.16	0.36331	Krueppel-associated box (3);	.	.	.	.	T	0.11495	0.0280	L	0.51853	1.615	0.21445	N	0.99968	D;D	0.76494	0.995;0.999	P;P	0.61874	0.82;0.895	T	0.04165	-1.0972	9	0.48119	T	0.1	.	12.1628	0.54113	0.0:1.0:0.0:0.0	.	224;224	B4DNN9;O60304	.;ZN500_HUMAN	M	224	ENSP00000445714:V224M;ENSP00000219478:V224M	ENSP00000219478:V224M	V	-	1	0	ZNF500	4750584	0.000000	0.05858	0.066000	0.19879	0.003000	0.03518	0.802000	0.27069	1.785000	0.52413	0.655000	0.94253	GTG	C|0.995;T|0.005	0.005	strong		0.632	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		T	4810583	C	T	4810583	3	4	22	1	0	0	0	0	1	0	0	0	17945	536	19	1	780	1	ZNF500	16	4810583	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20279	4810583	85544170	8091	13199										
ROGDI	79641	hgsc.bcm.edu	37	chr16	4847976	4847976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagcaccgcgcccccagCtgggcggaagttctagggag	15	13	1	0	rs546063670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4847976C>T	ENST00000322048.7	-	9	1036	c.658G>A	c.(658-660)Gct>Act	p.A220T	RP11-127I20.5_ENST00000592465.1_RNA|ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	220					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GCGCCCCCAGCTGGGCGGAAG	0.701													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17557	0.0		0.0	False		,,,				2504	0.0				p.A220T		Atlas-SNP	.											.	ROGDI	11	.	0			c.G658A						PASS	.						27	29	28					16																	4847976		2197	4299	6496	SO:0001583	missense	79641	exon9			CCCCAGCTGGGCG	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.658G>A	16.37:g.4847976C>T	ENSP00000322832:p.Ala220Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	148	87	0.587838	NM_024589	Q6IA00	Missense_Mutation	SNP	ENST00000322048.7	37	CCDS10523.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396518	0.25205	.	.	ENSG00000067836	ENST00000322048	T	0.42900	0.96	5.11	0.509	0.16977	.	0.114933	0.64402	D	0.000019	T	0.23249	0.0562	N	0.22421	0.69	0.28464	N	0.915729	B	0.13145	0.007	B	0.19148	0.024	T	0.18555	-1.0333	10	0.18276	T	0.48	-10.8216	7.925	0.29870	0.5389:0.3846:0.0:0.0765	.	220	Q9GZN7	ROGDI_HUMAN	T	220	ENSP00000322832:A220T	ENSP00000322832:A220T	A	-	1	0	ROGDI	4787977	0.000000	0.05858	0.178000	0.23040	0.322000	0.28314	-0.231000	0.09069	0.147000	0.19030	0.561000	0.74099	GCT	.	.	none		0.701	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		T	4847976	C	T	4847976	3	4	22	1	0	0	0	0	1	0	0	0	13520	797	28	2	217	2	ROGDI	16	4847976	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37393	4847976	85506777	8092	13200										
ROGDI	79641	hgsc.bcm.edu	37	chr16	4849726	4849726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttgaactggtagctctgGtcccggctggtaagcaggta	14	9	2	1	rs143095485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4849726G>C	ENST00000322048.7	-	6	771	c.393C>G	c.(391-393)gaC>gaG	p.D131E	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	131					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GGTAGCTCTGGTCCCGGCTGG	0.602													G|||	88	0.0175719	0.0643	0.0043	5008	,	,		12956	0.0		0.0	False		,,,				2504	0.0				p.D131E		Atlas-SNP	.											.	ROGDI	11	.	0			c.C393G						PASS	.	G	GLU/ASP	269,4125	152.5+/-186.2	5,259,1933	99	79	86		393	-9.8	0.4	16	dbSNP_134	86	0,8600		0,0,4300	yes	missense	ROGDI	NM_024589.1	45	5,259,6233	CC,CG,GG		0.0,6.122,2.0702	benign	131/288	4849726	269,12725	2197	4300	6497	SO:0001583	missense	79641	exon6			GCTCTGGTCCCGG	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.393C>G	16.37:g.4849726G>C	ENSP00000322832:p.Asp131Glu	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	129	59	0.457364	NM_024589	Q6IA00	Missense_Mutation	SNP	ENST00000322048.7	37	CCDS10523.1	21	0.009615384615384616	21	0.042682926829268296	0	0.0	0	0.0	0	0.0	G	6.305	0.424431	0.11928	0.06122	0.0	ENSG00000067836	ENST00000322048	T	0.41065	1.01	4.91	-9.82	0.00484	.	0.057101	0.64402	D	0.000002	T	0.01870	0.0059	L	0.39020	1.185	0.32051	N	0.596972	B	0.10296	0.003	B	0.14023	0.01	T	0.11227	-1.0596	10	0.17369	T	0.5	1.2912	4.1989	0.10457	0.1965:0.3057:0.4049:0.0929	.	131	Q9GZN7	ROGDI_HUMAN	E	131	ENSP00000322832:D131E	ENSP00000322832:D131E	D	-	3	2	ROGDI	4789727	0.003000	0.15002	0.407000	0.26434	0.258000	0.26162	-0.702000	0.05069	-2.194000	0.00753	-0.254000	0.11334	GAC	G|0.980;C|0.020	0.020	strong		0.602	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		C	4849726	G	C	4849726	3	2	22	1	0	0	0	0	1	0	0	0	13520	1252	44	4	494	4	ROGDI	16	4849726	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1750	4849726	85505027	8093	13201										
PPL	5493	hgsc.bcm.edu	37	chr16	4935257	4935257	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtcctcatattggcgggtGagatcgctgacctccctctc					rs571194570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4935257G>A	ENST00000345988.2	-	22	3488	c.3399C>T	c.(3397-3399)ctC>ctT	p.L1133L	PPL_ENST00000590782.2_Silent_p.L1131L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1133					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATTGGCGGGTGAGATCGCTGA	0.627													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		12926	0.0		0.0	False		,,,				2504	0.0				p.L1133L		Atlas-SNP	.											.	PPL	168	.	0			c.C3399T						PASS	.						79	71	74					16																	4935257		2197	4300	6497	SO:0001819	synonymous_variant	5493	exon22			GCGGGTGAGATCG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3399C>T	16.37:g.4935257G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	135	48	0.355556	NM_002705	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																			.	.	none		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4935257	G	A	4935257	2	1	22	1	0	0	0	0	0	0	0	1	12334	1277	45	2		2	PPL	16	4935257	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85531	4935257	85419496	8094	13202	275	2								
PPL	5493	hgsc.bcm.edu	37	chr16	4935258	4935258	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcctcatattggcgggtgAgatcgctgacctccctctcg					rs145318499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4935258A>T	ENST00000345988.2	-	22	3487	c.3398T>A	c.(3397-3399)cTc>cAc	p.L1133H	PPL_ENST00000590782.2_Missense_Mutation_p.L1131H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1133					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTGGCGGGTGAGATCGCTGAC	0.627													A|||	13	0.00259585	0.0091	0.0014	5008	,	,		12714	0.0		0.0	False		,,,				2504	0.0				p.L1133H		Atlas-SNP	.											.	PPL	168	.	0			c.T3398A						PASS	.						79	71	74					16																	4935258		2197	4300	6497	SO:0001583	missense	5493	exon22			CGGGTGAGATCGC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3398T>A	16.37:g.4935258A>T	ENSP00000340510:p.Leu1133His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	149	54	0.362416	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992856	0.54041	.	.	ENSG00000118898	ENST00000345988	T	0.43688	0.94	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.66626	0.2808	M	0.80746	2.51	0.49130	D	0.99975	D	0.89917	1.0	D	0.91635	0.999	T	0.72327	-0.4327	10	0.87932	D	0	.	15.0069	0.71519	1.0:0.0:0.0:0.0	.	1133	O60437	PEPL_HUMAN	H	1133	ENSP00000340510:L1133H	ENSP00000340510:L1133H	L	-	2	0	PPL	4875259	1.000000	0.71417	0.064000	0.19789	0.868000	0.49771	9.292000	0.96076	1.967000	0.57214	0.459000	0.35465	CTC	.	.	weak		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4935258	A	T	4935258	3	4	22	1	0	0	0	0	1	0	0	0	12334	304	11	5	1876	5	PPL	16	4935258	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	4935258	85419495	8095	13203	275	2								
PPL	5493	hgsc.bcm.edu	37	chr16	4952511	4952511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcaggttggtcacacgctCcttcagctggcggatactga	13	12	2	1	rs115478590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:4952511C>T	ENST00000345988.2	-	4	423	c.334G>A	c.(334-336)Gag>Aag	p.E112K	PPL_ENST00000590782.2_Missense_Mutation_p.E112K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	112					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTCACACGCTCCTTCAGCTGG	0.637													C|||	16	0.00319489	0.0113	0.0014	5008	,	,		18020	0.0		0.0	False		,,,				2504	0.0				p.E112K		Atlas-SNP	.											.	PPL	168	.	0			c.G334A						PASS	.	C	LYS/GLU	47,4347	48.9+/-83.8	0,47,2150	129	94	106		334	5	1	16	dbSNP_132	106	0,8600		0,0,4300	yes	missense	PPL	NM_002705.4	56	0,47,6450	TT,TC,CC		0.0,1.0696,0.3617	probably-damaging	112/1757	4952511	47,12947	2197	4300	6497	SO:0001583	missense	5493	exon4			CACGCTCCTTCAG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.334G>A	16.37:g.4952511C>T	ENSP00000340510:p.Glu112Lys	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	160	90	0.5625	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	C	25.4	4.631767	0.87660	0.010696	0.0	ENSG00000118898	ENST00000345988	T	0.36520	1.25	4.98	4.98	0.66077	.	0.126906	0.52532	D	0.000078	T	0.43523	0.1251	M	0.69823	2.125	0.45528	D	0.998484	D	0.69078	0.997	D	0.75020	0.985	T	0.58629	-0.7603	10	0.72032	D	0.01	.	16.4235	0.83790	0.0:1.0:0.0:0.0	.	112	O60437	PEPL_HUMAN	K	112	ENSP00000340510:E112K	ENSP00000340510:E112K	E	-	1	0	PPL	4892512	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.290000	0.65661	2.311000	0.77944	0.650000	0.86243	GAG	C|0.996;T|0.004	0.004	strong		0.637	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4952511	C	T	4952511	3	4	22	1	0	0	0	0	1	0	0	0	12334	864	30	2	5012	2	PPL	16	4952511	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17253	4952511	85402242	8096	13204										
SEC14L5	9717	hgsc.bcm.edu	37	chr16	5050678	5050678	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccgccccctctacatcctCcgcctgggccagatggacac	10	19	1	1	rs61745575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:5050678C>T	ENST00000251170.7	+	9	1173	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	331	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCTACATCCTCCGCCTGGGCC	0.632													C|||	132	0.0263578	0.0923	0.0115	5008	,	,		16872	0.0		0.002	False		,,,				2504	0.0				p.L331L		Atlas-SNP	.											SEC14L5,NS,carcinoma,+2,1	SEC14L5	79	1	0			c.C993T						PASS	.	C		191,3593		4,183,1705	11	12	12		993	1.2	1	16	dbSNP_129	12	2,7978		0,2,3988	no	coding-synonymous	SEC14L5	NM_014692.1		4,185,5693	TT,TC,CC		0.0251,5.0476,1.6406		331/697	5050678	193,11571	1892	3990	5882	SO:0001819	synonymous_variant	9717	exon9			CATCCTCCGCCTG	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.993C>T	16.37:g.5050678C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_014692		Silent	SNP	ENST00000251170.7	37	CCDS45403.1																																																																																			C|0.975;T|0.025	0.025	strong		0.632	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			T	5050678	C	T	5050678	2	4	22	1	0	0	0	0	0	0	0	1	13985	842	30	2		2	SEC14L5	16	5050678	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	98167	5050678	85304075	8097	13205										
SEC14L5	9717	hgsc.bcm.edu	37	chr16	5061191	5061191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcctcccgggtgtggaCgatgtcctgacggctctgca	14	13	1	1	rs8055468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:5061191C>T	ENST00000251170.7	+	15	2076	c.1896C>T	c.(1894-1896)gaC>gaT	p.D632D	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	632	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CGGGTGTGGACGATGTCCTGA	0.652													C|||	159	0.0317492	0.1135	0.0115	5008	,	,		16324	0.001		0.0	False		,,,				2504	0.0				p.D632D		Atlas-SNP	.											.	SEC14L5	79	.	0			c.C1896T						PASS	.	C		368,3642		19,330,1656	25	29	28		1896	-5.6	0	16	dbSNP_116	28	7,8319		0,7,4156	no	coding-synonymous	SEC14L5	NM_014692.1		19,337,5812	TT,TC,CC		0.0841,9.1771,3.0399		632/697	5061191	375,11961	2005	4163	6168	SO:0001819	synonymous_variant	9717	exon15			TGTGGACGATGTC	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1896C>T	16.37:g.5061191C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	146	69	0.472603	NM_014692		Silent	SNP	ENST00000251170.7	37	CCDS45403.1																																																																																			C|0.968;T|0.032	0.032	strong		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			T	5061191	C	T	5061191	2	4	22	1	0	0	0	0	0	0	0	1	13985	535	19	1		1	SEC14L5	16	5061191	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10513	5061191	85293562	8098	13206										
C16orf89	146556	hgsc.bcm.edu	37	chr16	5115811	5115811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatcaggtctgcaatggtGgctttactttcagcagtgtc	12	8	3	0	rs35751409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:5115811G>A	ENST00000315997.5	-	1	300	c.99C>T	c.(97-99)gcC>gcT	p.A33A	C16orf89_ENST00000350219.4_Silent_p.A71A|C16orf89_ENST00000472572.3_Silent_p.A33A|C16orf89_ENST00000474471.3_Silent_p.A33A|C16orf89_ENST00000422873.1_Silent_p.A71A|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	33						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CTGCAATGGTGGCTTTACTTT	0.602													G|||	35	0.00698882	0.0265	0.0	5008	,	,		19948	0.0		0.0	False		,,,				2504	0.0				p.A33A		Atlas-SNP	.											.	C16orf89	64	.	0			c.C99T						PASS	.	G	,	111,4137		1,109,2014	61	66	64		99,99	-0.5	0.5	16	dbSNP_126	64	0,8502		0,0,4251	no	coding-synonymous,coding-synonymous	C16orf89	NM_001098514.2,NM_152459.4	,	1,109,6265	AA,AG,GG		0.0,2.613,0.8706	,	33/362,33/403	5115811	111,12639	2124	4251	6375	SO:0001819	synonymous_variant	146556	exon1			AATGGTGGCTTTA		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.99C>T	16.37:g.5115811G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	143	61	0.426573	NM_001098514	B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	CCDS42116.2																																																																																			G|0.990;A|0.010	0.010	strong		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		A	5115811	G	A	5115811	2	1	22	1	0	0	0	0	0	0	0	1	1842	1335	47	2		2	C16orf89	16	5115811	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54620	5115811	85238942	8099	13207										
ALG1	56052	hgsc.bcm.edu	37	chr16	5132586	5132586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggacctgggtgtctgtctgCacacgtcctccagtggcctg	13	14	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:5132586C>G	ENST00000262374.5	+	11	1130	c.1099C>G	c.(1099-1101)Cac>Gac	p.H367D	ALG1_ENST00000588623.1_Missense_Mutation_p.H256D|ALG1_ENST00000544428.1_Missense_Mutation_p.H256D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	367					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.H367Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TGTCTGTCTGCACACGTCCTC	0.597																																					p.H367D		Atlas-SNP	.											ALG1,NS,carcinoma,0,1	ALG1	35	1	1	Substitution - Missense(1)	breast(1)	c.C1099G						scavenged	.						64	52	56					16																	5132586		2078	3944	6022	SO:0001583	missense	56052	exon11			TGTCTGCACACGT	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1099C>G	16.37:g.5132586C>G	ENSP00000262374:p.His367Asp	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	110	7	0.0636364	NM_019109	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820699	0.90873	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.75704	-0.96;-0.96	5.28	5.28	0.74379	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	H	0.97240	3.965	0.80722	D	1	P;P	0.45827	0.603;0.867	P;P	0.58013	0.622;0.831	D	0.93433	0.6787	10	0.87932	D	0	-24.1817	17.5165	0.87775	0.0:1.0:0.0:0.0	.	256;367	B4DP08;Q9BT22	.;ALG1_HUMAN	D	367;256	ENSP00000262374:H367D;ENSP00000440019:H256D	ENSP00000262374:H367D	H	+	1	0	ALG1	5072587	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.492000	0.66893	2.474000	0.83562	0.555000	0.69702	CAC	.	.	none		0.597	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		G	5132586	C	G	5132586	3	3	22	1	0	0	0	0	1	0	0	0	510	710	25	4	1141	4	ALG1	16	5132586	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16775	5132586	85222167	8100	13208										
ABAT	18	hgsc.bcm.edu	37	chr16	8868776	8868776	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttcttggtggacgaggtCcagaccggaggaggctgcac	16	11	1	1	rs1641022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:8868776C>A	ENST00000396600.2	+	13	1922	c.984C>A	c.(982-984)gtC>gtA	p.V328V	ABAT_ENST00000425191.2_Silent_p.V328V|ABAT_ENST00000569156.1_Silent_p.V328V|ABAT_ENST00000268251.8_Silent_p.V328V|ABAT_ENST00000567812.1_Silent_p.V343V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	328					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGACGAGGTCCAGACCGGAG	0.592													C|||	1590	0.317492	0.0552	0.3429	5008	,	,		18174	0.4167		0.4374	False		,,,				2504	0.4284				p.V328V		Atlas-SNP	.											.	ABAT	46	.	0			c.C984A						PASS	.	C	,,	531,3863	240.3+/-251.1	27,477,1693	59	56	57		984,984,984	-1.1	1	16	dbSNP_89	57	3661,4939	524.1+/-380.5	782,2097,1421	no	coding-synonymous,coding-synonymous,coding-synonymous	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	,,	809,2574,3114	AA,AC,CC		42.5698,12.0847,32.261	,,	328/501,328/501,328/501	8868776	4192,8802	2197	4300	6497	SO:0001819	synonymous_variant	18	exon13			CGAGGTCCAGACC	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.984C>A	16.37:g.8868776C>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_001127448	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	CCDS10534.1																																																																																			C|0.674;A|0.326	0.326	strong		0.592	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		A	8868776	C	A	8868776	2	1	22	1	0	0	0	0	0	0	0	1	27	842	30	4		4	ABAT	16	8868776	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3736190	8868776	81485977	8101	13209										
GRIN2A	2903	hgsc.bcm.edu	37	chr16	9916204	9916204	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatgtagggatagttattCcgaatgtttctctccgtgct	10	8	1	0	rs9806806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:9916204C>G	ENST00000396573.2	-	11	2394	c.2085G>C	c.(2083-2085)cgG>cgC	p.R695R	GRIN2A_ENST00000396575.2_Silent_p.R695R|GRIN2A_ENST00000404927.2_Silent_p.R695R|GRIN2A_ENST00000330684.3_Silent_p.R695R|GRIN2A_ENST00000535259.1_Silent_p.R538R|GRIN2A_ENST00000562109.1_Silent_p.R695R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	695					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATAGTTATTCCGAATGTTTC	0.458													C|||	1408	0.28115	0.5272	0.2176	5008	,	,		20970	0.0794		0.2873	False		,,,				2504	0.1953				p.R695R		Atlas-SNP	.											.	GRIN2A	366	.	0			c.G2085C						PASS	.	C	,,	2155,2239	583.6+/-385.9	532,1091,574	168	143	152		2085,2085,2085	2.5	1	16	dbSNP_119	152	2407,6193	399.1+/-346.3	315,1777,2208	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	,,	847,2868,2782	GG,GC,CC		27.9884,49.0442,35.1085	,,	695/1465,695/1465,695/1282	9916204	4562,8432	2197	4300	6497	SO:0001819	synonymous_variant	2903	exon11			GTTATTCCGAATG		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2085G>C	16.37:g.9916204C>G		Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	279	145	0.519713	NM_000833	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																			C|0.671;G|0.329	0.329	strong		0.458	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			G	9916204	C	G	9916204	2	3	22	1	0	0	0	0	0	0	0	1	6779	842	30	4		4	GRIN2A	16	9916204	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1047428	9916204	80438549	8102	13210										
ATF7IP2	80063	hgsc.bcm.edu	37	chr16	10524957	10524957	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctttttgagcatgagggGgcttgtagtctaaagtccag	12	8	1	2	rs34430103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:10524957G>T	ENST00000396560.2	+	3	707	c.480G>T	c.(478-480)ggG>ggT	p.G160G	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.G160G|ATF7IP2_ENST00000324570.5_Silent_p.G160G|ATF7IP2_ENST00000356427.2_Silent_p.G160G	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGCATGAGGGGGCTTGTAGTC	0.448													G|||	899	0.179513	0.2436	0.2061	5008	,	,		20164	0.1577		0.1004	False		,,,				2504	0.1779				p.G160G		Atlas-SNP	.											.	ATF7IP2	40	.	0			c.G480T						PASS	.	G		948,3446	360.6+/-315.3	98,752,1347	106	96	99		480	-1.1	0	16	dbSNP_126	99	1002,7598	216.3+/-255.4	56,890,3354	no	coding-synonymous	ATF7IP2	NM_024997.2		154,1642,4701	TT,TG,GG		11.6512,21.5749,15.0069		160/683	10524957	1950,11044	2197	4300	6497	SO:0001819	synonymous_variant	80063	exon3			TGAGGGGGCTTGT	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.480G>T	16.37:g.10524957G>T		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	213	210	0.985915	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	CCDS10540.1																																																																																			G|0.848;T|0.152	0.152	strong		0.448	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		T	10524957	G	T	10524957	2	4	22	1	0	0	0	0	0	0	0	1	1088	1219	43	4		4	ATF7IP2	16	10524957	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	608753	10524957	79829796	8103	13211										
ATF7IP2	80063	hgsc.bcm.edu	37	chr16	10527404	10527404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattatcaaaagaagaggatGttttcagaaaacgaggaaaa	9	4	2	3	rs141089693	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:10527404G>A	ENST00000396560.2	+	4	1085	c.858G>A	c.(856-858)atG>atA	p.M286I	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.M286I|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.M286I|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.M286I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGAAGAGGATGTTTTCAGAAA	0.338													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21095	0.0		0.0	False		,,,				2504	0.0				p.M286I		Atlas-SNP	.											.	ATF7IP2	40	.	0			c.G858A						PASS	.	G	ILE/MET	30,4362	32.6+/-62.9	1,28,2167	54	56	55		858	1.8	1	16	dbSNP_134	55	0,8598		0,0,4299	yes	missense	ATF7IP2	NM_024997.2	10	1,28,6466	AA,AG,GG		0.0,0.6831,0.2309	possibly-damaging	286/683	10527404	30,12960	2196	4299	6495	SO:0001583	missense	80063	exon4			GAGGATGTTTTCA	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.858G>A	16.37:g.10527404G>A	ENSP00000379808:p.Met286Ile	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	159	81	0.509434	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.62	2.292811	0.40594	0.006831	0.0	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.02	1.79	0.24919	.	0.492757	0.20948	N	0.082817	T	0.25269	0.0614	L	0.55481	1.735	0.21822	N	0.999525	B;B	0.27656	0.184;0.161	B;B	0.29353	0.101;0.053	T	0.13522	-1.0506	10	0.33940	T	0.23	-6.0402	5.1577	0.15044	0.1856:0.0:0.6499:0.1645	.	286;286	Q5U623-2;Q5U623	.;MCAF2_HUMAN	I	286	ENSP00000379807:M286I;ENSP00000379808:M286I;ENSP00000440791:M286I;ENSP00000348799:M286I;ENSP00000322811:M286I	ENSP00000322811:M286I	M	+	3	0	ATF7IP2	10434905	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.462000	0.35266	0.648000	0.30732	-0.145000	0.13849	ATG	G|0.999;A|0.001	0.001	strong		0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		A	10527404	G	A	10527404	3	1	22	1	0	0	0	0	1	0	0	0	1088	1377	48	2	864	2	ATF7IP2	16	10527404	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2447	10527404	79827349	8104	13212										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10769873	10769873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacctcagagatgcgggcGttgaaggccaggttggtgtc	16	9	2	2	rs115325161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:10769873G>A	ENST00000283025.2	-	5	1100	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	343						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						AGATGCGGGCGTTGAAGGCCA	0.602													A|||	25	0.00499201	0.0174	0.0029	5008	,	,		21091	0.0		0.0	False		,,,				2504	0.0				p.N343N		Atlas-SNP	.											.	TEKT5	66	.	0			c.C1029T						PASS	.	A		72,4322	818.8+/-416.3	1,70,2126	153	126	135		1029	-3.3	0.1	16	dbSNP_132	135	0,8600		0,0,4300	no	coding-synonymous	TEKT5	NM_144674.1		1,70,6426	AA,AG,GG		0.0,1.6386,0.5541		343/486	10769873	72,12922	2197	4300	6497	SO:0001819	synonymous_variant	146279	exon5			GCGGGCGTTGAAG		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.1029C>T	16.37:g.10769873G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	101	56	0.554455	NM_144674	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																			G|0.995;A|0.005	0.005	strong		0.602	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10769873	G	A	10769873	2	1	22	1	0	0	0	0	0	0	0	1	15753	1136	40	1		1	TEKT5	16	10769873	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	242469	10769873	79584880	8105	13213										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10775855	10775855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtctgatacttacgtgccGtcaattttctccatgccgtg	9	11	3	1	rs71389065|rs12918646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:10775855G>A	ENST00000283025.2	-	4	929	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	286						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						CTTACGTGCCGTCAATTTTCT	0.542													G|||	1476	0.294728	0.143	0.4006	5008	,	,		21540	0.5446		0.159	False		,,,				2504	0.3067				p.D286D		Atlas-SNP	.											TEKT5,pharynx,carcinoma,-2,1	TEKT5	66	1	0			c.C858T						PASS	.	G		720,3674	298.7+/-285.4	72,576,1549	252	191	212		858	-4.4	0.3	16	dbSNP_121	212	1634,6966	298.2+/-303.8	162,1310,2828	no	coding-synonymous	TEKT5	NM_144674.1		234,1886,4377	AA,AG,GG		19.0,16.386,18.1161		286/486	10775855	2354,10640	2197	4300	6497	SO:0001819	synonymous_variant	146279	exon4			CGTGCCGTCAATT		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.858C>T	16.37:g.10775855G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	168	80	0.47619	NM_144674	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																			ATG|0.500;GTC|0.500	.	alt		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10775855	G	A	10775855	2	1	22	1	0	0	0	0	0	0	0	1	15753	1136	40	1		1	TEKT5	16	10775855	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5982	10775855	79578898	8106	13214										
CIITA	4261	hgsc.bcm.edu	37	chr16	11001770	11001770	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgggcgcggcagctgctGgagctgctgcactgcgccca	16	15	0	0	rs34654419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11001770G>T	ENST00000324288.8	+	11	2554	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	807					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.L807L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGCAGCTGCTGGAGCTGCTGC	0.687			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								G|||	1081	0.215855	0.2057	0.3876	5008	,	,		12685	0.1329		0.1869	False		,,,				2504	0.2229				p.L807L		Atlas-SNP	.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	CIITA_ENST00000324288,NS,lymphoid_neoplasm,0,1	CIITA	92	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2421T						PASS	.	G		828,3494		88,652,1421	19	27	24		2421	2.8	1	16	dbSNP_126	24	1706,6752		189,1328,2712	no	coding-synonymous	CIITA	NM_000246.3		277,1980,4133	TT,TG,GG		20.1703,19.1578,19.8279		807/1131	11001770	2534,10246	2161	4229	6390	SO:0001819	synonymous_variant	4261	exon11			GCTGCTGGAGCTG	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2421G>T	16.37:g.11001770G>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	43	1	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	CCDS10544.1																																																																																			T|0.193;G|0.806;C|0.000	0.193	strong		0.687	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		T	11001770	G	T	11001770	2	4	22	1	0	0	0	0	0	0	0	1	3428	1335	47	4		4	CIITA	16	11001770	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	225915	11001770	79352983	8107	13215										
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11114174	11114174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgctctgagagcacgcaAtggagcaggtagctgcccga	13	12	1	1	rs61741309	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11114174A>G	ENST00000409790.1	+	12	1658	c.1428A>G	c.(1426-1428)caA>caG	p.Q476Q	CLEC16A_ENST00000409552.3_Silent_p.Q458Q	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAGCACGCAATGGAGCAGGT	0.632													A|||	245	0.0489217	0.18	0.0101	5008	,	,		21149	0.0		0.0	False		,,,				2504	0.0				p.Q476Q		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1428G						PASS	.	A		489,3493		31,427,1533	16	19	18		1428	4.4	1	16	dbSNP_129	18	4,8358		0,4,4177	no	coding-synonymous	CLEC16A	NM_015226.2		31,431,5710	GG,GA,AA		0.0478,12.2803,3.9938		476/1054	11114174	493,11851	1991	4181	6172	SO:0001819	synonymous_variant	23274	exon11			CACGCAATGGAGC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1428A>G	16.37:g.11114174A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	116	60	0.517241	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																			A|0.962;G|0.038	0.038	strong		0.632	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		G	11114174	A	G	11114174	2	3	22	1	0	0	0	0	0	0	0	1	3500	98	4	2		2	CLEC16A	16	11114174	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	112404	11114174	79240579	8108	13216										
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11133642	11133642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaattagagcgaatccaGctccccgtgccaaatgcggc	10	12	0	1	rs61740101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11133642G>A	ENST00000409790.1	+	14	1799	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	CLEC16A_ENST00000409552.3_Silent_p.Q505Q|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCGAATCCAGCTCCCCGTGC	0.547													G|||	64	0.0127796	0.0477	0.0014	5008	,	,		18325	0.0		0.0	False		,,,				2504	0.0				p.Q523Q		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1569A						PASS	.	G		137,3891		6,125,1883	51	55	54		1569	3.3	1	16	dbSNP_129	54	0,8358		0,0,4179	no	coding-synonymous	CLEC16A	NM_015226.2		6,125,6062	AA,AG,GG		0.0,3.4012,1.1061		523/1054	11133642	137,12249	2014	4179	6193	SO:0001819	synonymous_variant	23274	exon13			AATCCAGCTCCCC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1569G>A	16.37:g.11133642G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																			G|0.989;A|0.011	0.011	strong		0.547	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		A	11133642	G	A	11133642	2	1	22	1	0	0	0	0	0	0	0	1	3500	962	34	2		2	CLEC16A	16	11133642	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19468	11133642	79221111	8109	13217										
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11133681	11133681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgagaagaccacctacaaCcacccgctagctgaaagact	8	15	0	4	rs61740118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11133681C>T	ENST00000409790.1	+	14	1838	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.N518N	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCACCTACAACCACCCGCTAG	0.552													C|||	64	0.0127796	0.0477	0.0014	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0				p.N536N		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1608T						PASS	.	C		139,3971		5,129,1921	57	61	59		1608	4.3	1	16	dbSNP_129	59	0,8386		0,0,4193	no	coding-synonymous	CLEC16A	NM_015226.2		5,129,6114	TT,TC,CC		0.0,3.382,1.1124		536/1054	11133681	139,12357	2055	4193	6248	SO:0001819	synonymous_variant	23274	exon13			CTACAACCACCCG	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1608C>T	16.37:g.11133681C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																			C|0.989;T|0.011	0.011	strong		0.552	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11133681	C	T	11133681	2	4	22	1	0	0	0	0	0	0	0	1	3500	506	18	2		2	CLEC16A	16	11133681	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39	11133681	79221072	8110	13218										
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11272227	11272227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaactgcctaagcctcacCttcctgaccagttggtaatc	7	14	1	2	rs61744103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11272227C>T	ENST00000409790.1	+	24	3072	c.2842C>T	c.(2842-2844)Ctt>Ttt	p.L948F	CLEC16A_ENST00000381822.2_Missense_Mutation_p.L35F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TAAGCCTCACCTTCCTGACCA	0.592													C|||	90	0.0179712	0.0658	0.0043	5008	,	,		6774	0.0		0.0	False		,,,				2504	0.0				p.L948F		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C2842T						PASS	.	C	PHE/LEU	177,4103		3,171,1966	100	111	107		2842	2	0.9	16	dbSNP_129	107	1,8491		0,1,4245	yes	missense	CLEC16A	NM_015226.2	22	3,172,6211	TT,TC,CC		0.0118,4.1355,1.3937	benign	948/1054	11272227	178,12594	2140	4246	6386	SO:0001583	missense	23274	exon23			CCTCACCTTCCTG	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2842C>T	16.37:g.11272227C>T	ENSP00000387122:p.Leu948Phe	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	77	46	0.597403	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	20	0.009157509157509158	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	0	0.0	C	10.65	1.409444	0.25378	0.041355	1.18E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50548	0.74	4.13	2.02	0.26589	.	1.046110	0.07487	N	0.904880	T	0.11879	0.0289	N	0.03608	-0.345	0.09310	N	1	D;B	0.69078	0.997;0.0	D;B	0.63283	0.913;0.0	T	0.21895	-1.0232	10	0.32370	T	0.25	-2.4515	5.4981	0.16813	0.3727:0.5235:0.0:0.1038	rs61744103	35;948	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	F	948;948;35	ENSP00000387122:L948F	ENSP00000371244:L35F	L	+	1	0	CLEC16A	11179728	0.120000	0.22244	0.917000	0.36280	0.855000	0.48748	0.314000	0.19432	0.815000	0.34398	0.563000	0.77884	CTT	C|0.991;T|0.009	0.009	strong		0.592	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11272227	C	T	11272227	3	4	22	1	0	0	0	0	1	0	0	0	3500	681	24	2	2932	2	CLEC16A	16	11272227	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138546	11272227	79082526	8111	13219										
TXNDC11	51061	hgsc.bcm.edu	37	chr16	11773261	11773261	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgagccacgtgttctcGgtaaggaggttttctgaggc	13	8	3	2	rs8191350	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11773261G>C	ENST00000356957.3	-	13	2855	c.2748C>G	c.(2746-2748)acC>acG	p.T916T	TXNDC11_ENST00000283033.5_Silent_p.T889T|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	916					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACGTGTTCTCGGTAAGGAGGT	0.617													G|||	117	0.0233626	0.087	0.0029	5008	,	,		17720	0.0		0.0	False		,,,				2504	0.0				p.T889T		Atlas-SNP	.											.	TXNDC11	75	.	0			c.C2667G						PASS	.	G		362,4032	181.2+/-209.3	18,326,1853	61	60	61		2667	-11.3	0	16	dbSNP_117	61	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	TXNDC11	NM_015914.5		18,330,6149	CC,CG,GG		0.0465,8.2385,2.8167		889/959	11773261	366,12628	2197	4300	6497	SO:0001819	synonymous_variant	51061	exon12			GTTCTCGGTAAGG	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2748C>G	16.37:g.11773261G>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37																																																																																				G|0.970;C|0.030	0.030	strong		0.617	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		C	11773261	G	C	11773261	2	2	22	1	0	0	0	0	0	0	0	1	16789	1103	39	4		4	TXNDC11	16	11773261	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	501034	11773261	78581492	8112	13220										
RSL1D1	26156	hgsc.bcm.edu	37	chr16	11940390	11940390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttagaaatgtttaagacTgttccacctatacagtcatt	5	8	1	2	rs8052900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:11940390T>C	ENST00000571133.1	-	5	675	c.603A>G	c.(601-603)acA>acG	p.T201T	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	201					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T201T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TGTTTAAGACTGTTCCACCTA	0.333													C|||	3523	0.703474	0.9788	0.7983	5008	,	,		18858	0.4355		0.6551	False		,,,				2504	0.59				p.T201T		Atlas-SNP	.											RSL1D1,NS,carcinoma,0,1	RSL1D1	40	1	1	Substitution - coding silent(1)	stomach(1)	c.A603G						scavenged	.	C		4084,310	165.1+/-196.6	1898,288,11	102	101	101		603	-3.7	0	16	dbSNP_116	101	5715,2885	450.9+/-362.5	1882,1951,467	no	coding-synonymous	RSL1D1	NM_015659.2		3780,2239,478	CC,CT,TT		33.5465,7.0551,24.5883		201/491	11940390	9799,3195	2197	4300	6497	SO:0001819	synonymous_variant	26156	exon5			TAAGACTGTTCCA	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.603A>G	16.37:g.11940390T>C		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	101	100	0.990099	NM_015659	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	CCDS10551.1																																																																																			T|0.271;C|0.729	0.729	strong		0.333	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		C	11940390	T	C	11940390	2	2	22	1	0	0	0	0	0	0	0	1	13700	1567	55	3		3	RSL1D1	16	11940390	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	167129	11940390	78414363	8113	13221										
TNFRSF17	608	hgsc.bcm.edu	37	chr16	12061626	12061626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaccattcttgtcaccacGaaaacgaatgactattgcaa	6	11	2	1	rs2017662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:12061626G>A	ENST00000053243.1	+	3	695	c.477G>A	c.(475-477)acG>acA	p.T159T	TNFRSF17_ENST00000396495.3_Silent_p.T110T|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	159					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			large_intestine(3)|lung(3)	6						TTGTCACCACGAAAACGAATG	0.483			T	IL2	intestinal T-cell lymphoma								G|||	700	0.139776	0.2224	0.2161	5008	,	,		20246	0.1677		0.0616	False		,,,				2504	0.0256				p.T159T		Atlas-SNP	.		Dom	yes		16	16p13.1	608	"tumor necrosis factor receptor superfamily, member 17"		L	TNFRSF17,colon,carcinoma,+1,1	TNFRSF17	16	1	0			c.G477A						PASS	.	G		940,3454	357.9+/-314.1	107,726,1364	127	108	115		477	-10.3	0.4	16	dbSNP_92	115	447,8153	133.9+/-191.4	14,419,3867	no	coding-synonymous	TNFRSF17	NM_001192.2		121,1145,5231	AA,AG,GG		5.1977,21.3928,10.6742		159/185	12061626	1387,11607	2197	4300	6497	SO:0001819	synonymous_variant	608	exon3			CACCACGAAAACG	Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"Tumor necrosis factor receptor superfamily", "CD molecules"	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.477G>A	16.37:g.12061626G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_001192	Q2TQ40	Silent	SNP	ENST00000053243.1	37	CCDS10552.1																																																																																			G|0.872;A|0.128	0.128	strong		0.483	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252062.1			A	12061626	G	A	12061626	2	1	22	1	0	0	0	0	0	0	0	1	16287	1045	37	1		1	TNFRSF17	16	12061626	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121236	12061626	78293127	8114	13222										
SNX29	92017	hgsc.bcm.edu	37	chr16	12162969	12162969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaggaccacgttctcccAgatcctggacttcggtacag	10	14	1	2	rs1641843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:12162969A>G	ENST00000566228.1	+	10	1368	c.1299A>G	c.(1297-1299)ccA>ccG	p.P433P	SNX29_ENST00000306030.3_Silent_p.P48P|SNX29_ENST00000323433.4_Silent_p.P48P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	433						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.P48P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACGTTCTCCCAGATCCTGGAC	0.463													g|||	3050	0.609026	0.8116	0.5014	5008	,	,		18048	0.5258		0.4632	False		,,,				2504	0.6472				p.P433P		Atlas-SNP	.											SNX29_ENST00000306030,NS,carcinoma,0,1	SNX29	60	1	1	Substitution - coding silent(1)	stomach(1)	c.A1299G						PASS	.			2767,971		1036,695,138	89	97	95		144	-10.7	0	16	dbSNP_89	95	3365,4857		689,1987,1435	no	coding-synonymous	SNX29	NM_001080530.2		1725,2682,1573	GG,GA,AA		40.9268,25.9765,48.7291		48/429	12162969	6132,5828	1869	4111	5980	SO:0001819	synonymous_variant	92017	exon10			TCTCCCAGATCCT	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1299A>G	16.37:g.12162969A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	CCDS10553.2																																																																																			A|0.468;G|0.532	0.532	strong		0.463	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			G	12162969	A	G	12162969	2	3	22	1	0	0	0	0	0	0	0	1	14898	175	7	3		3	SNX29	16	12162969	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	101343	12162969	78191784	8115	13223										
CPPED1	55313	hgsc.bcm.edu	37	chr16	12798724	12798724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgaggaccaggaacaggaCgcccccgacccagaagctga	13	13	0	3	rs145004672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:12798724C>T	ENST00000381774.4	-	3	712	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	158	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.V158I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGGAACAGGACGCCCCCGACC	0.612													C|||	42	0.00838658	0.0272	0.0029	5008	,	,		17716	0.003		0.0	False		,,,				2504	0.001				p.V158I		Atlas-SNP	.											CPPED1,rectum,carcinoma,0,1	CPPED1	41	1	1	Substitution - Missense(1)	large_intestine(1)	c.G472A						scavenged	.	C	,ILE/VAL	69,3929		1,67,1931	57	62	60		,472	4.4	0.8	16	dbSNP_134	60	1,8319		0,1,4159	yes	intron,missense	CPPED1	NM_001099455.1,NM_018340.2	,29	1,68,6090	TT,TC,CC		0.012,1.7259,0.5683	,possibly-damaging	,158/315	12798724	70,12248	1999	4160	6159	SO:0001583	missense	55313	exon3			ACAGGACGCCCCC	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.472G>A	16.37:g.12798724C>T	ENSP00000371193:p.Val158Ile	Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	83	45	0.542169	NM_018340	B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	CCDS42120.1	27	0.012362637362637362	23	0.046747967479674794	1	0.0027624309392265192	3	0.005244755244755245	0	0.0	C	16.61	3.171078	0.57584	0.017259	1.2E-4	ENSG00000103381	ENST00000381774	T	0.72505	-0.66	5.32	4.37	0.52481	Metallophosphoesterase domain (1);	0.053983	0.64402	D	0.000001	T	0.29882	0.0747	M	0.67397	2.05	0.80722	D	1	P	0.47191	0.891	B	0.43194	0.411	T	0.56165	-0.8024	10	0.46703	T	0.11	-31.751	12.0777	0.53653	0.0:0.9163:0.0:0.0837	.	158	Q9BRF8	CPPED_HUMAN	I	158	ENSP00000371193:V158I	ENSP00000371193:V158I	V	-	1	0	CPPED1	12706225	0.998000	0.40836	0.840000	0.33206	0.315000	0.28087	3.848000	0.55903	1.256000	0.44068	-0.128000	0.14901	GTC	C|0.988;T|0.012	0.012	strong		0.612	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		T	12798724	C	T	12798724	3	4	22	1	0	0	0	0	1	0	0	0	3822	536	19	1	480	1	CPPED1	16	12798724	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	635755	12798724	77556029	8116	13224										
ERCC4	2072	hgsc.bcm.edu	37	chr16	14031695	14031695	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgcggaaagaaaaggaAgcttttgaaaaactcataag	10	5	1	2	rs2020958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:14031695A>G	ENST00000311895.7	+	9	1893	c.1884A>G	c.(1882-1884)gaA>gaG	p.E628E	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	628					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGAAAAGGAAGCTTTTGAAA	0.393			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A|||	77	0.0153754	0.0582	0.0	5008	,	,		16132	0.0		0.0	False		,,,				2504	0.0				p.E628E		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	.	ERCC4	100	.	0			c.A1884G						PASS	.	A		170,4224	105.2+/-143.6	3,164,2030	76	75	75		1884	4.2	1	16	dbSNP_94	75	0,8600		0,0,4300	no	coding-synonymous	ERCC4	NM_005236.2		3,164,6330	GG,GA,AA		0.0,3.8689,1.3083		628/917	14031695	170,12824	2197	4300	6497	SO:0001819	synonymous_variant	2072	exon9	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AAAGGAAGCTTTT	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1884A>G	16.37:g.14031695A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1																																																																																			A|0.982;G|0.018	0.018	strong		0.393	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		G	14031695	A	G	14031695	2	3	22	1	0	0	0	0	0	0	0	1	5215	69	3	3		3	ERCC4	16	14031695	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1232971	14031695	76323058	8117	13225										
ERCC4	2072	hgsc.bcm.edu	37	chr16	14038659	14038659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctagtaagaggcacagcaTctgcagatgtttccactgac	9	11	1	3	rs2020955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:14038659T>C	ENST00000311895.7	+	10	1993	c.1984T>C	c.(1984-1986)Tct>Cct	p.S662P		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	662	Nuclease.		S -> P (in dbSNP:rs2020955). {ECO:0000269|Ref.2}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGCACAGCATCTGCAGATGT	0.488			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T|||	306	0.0611022	0.2209	0.0187	5008	,	,		19375	0.0		0.001	False		,,,				2504	0.0				p.S662P		Atlas-SNP	.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	.	ERCC4	100	.	0			c.T1984C						PASS	.	T	PRO/SER	845,3549	335.7+/-304.0	79,687,1431	103	93	97		1984	0.9	0	16	dbSNP_94	97	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ERCC4	NM_005236.2	74	79,698,5720	CC,CT,TT		0.1279,19.2308,6.5877	benign	662/917	14038659	856,12138	2197	4300	6497	SO:0001583	missense	2072	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ACAGCATCTGCAG	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1984T>C	16.37:g.14038659T>C	ENSP00000310520:p.Ser662Pro	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	106	0.048534798534798536	100	0.2032520325203252	6	0.016574585635359115	0	0.0	0	0.0	T	8.372	0.835596	0.16820	0.192308	0.001279	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.62105	0.05	5.8	0.884	0.19182	.	0.401079	0.30732	N	0.008982	T	0.00039	0.0001	N	0.05414	-0.055	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.06162	-1.0842	9	0.27082	T	0.32	-7.9859	1.9232	0.03312	0.1348:0.1162:0.2951:0.4539	rs2020955;rs2020955	662	Q92889	XPF_HUMAN	P	662;650	ENSP00000310520:S662P	ENSP00000310520:S662P	S	+	1	0	ERCC4	13946160	0.014000	0.17966	0.001000	0.08648	0.041000	0.13682	0.464000	0.21988	0.084000	0.17077	0.533000	0.62120	TCT	T|0.934;C|0.066	0.066	strong		0.488	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		C	14038659	T	C	14038659	3	2	22	1	0	0	0	0	1	0	0	0	5215	1435	50	2	2022	2	ERCC4	16	14038659	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6964	14038659	76316094	8118	13226										
PDXDC1	23042	hgsc.bcm.edu	37	chr16	15129970	15129970	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagaaaaggtggagcgcctAtccagtgggccggagcagat	15	8	0	2	rs7200543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15129970A>G	ENST00000396410.4	+	23	2302	c.2205A>G	c.(2203-2205)ctA>ctG	p.L735L	PDXDC1_ENST00000447912.2_Silent_p.L644L|PDXDC1_ENST00000563679.1_Silent_p.L753L|PDXDC1_ENST00000569715.1_Silent_p.L708L|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000325823.7_Silent_p.L720L|PDXDC1_ENST00000450288.2_Silent_p.L707L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	735					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGAGCGCCTATCCAGTGGGC	0.582													G|||	1728	0.345048	0.1846	0.5331	5008	,	,		18589	0.371		0.3062	False		,,,				2504	0.4417				p.L735L		Atlas-SNP	.											.	PDXDC1	59	.	0			c.A2205G						PASS	.	G		989,3405	730.4+/-410.2	119,751,1327	120	120	120	http://www.ncbi.nlm.nih.gov/pubmed?term	2205	4.7	0.1	16	dbSNP_116	120	2587,6013	689.7+/-404.4	359,1869,2072	yes	coding-synonymous	PDXDC1	NM_015027.2		478,2620,3399	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	30.0814,22.508,27.5204		735/789	15129970	3576,9418	2197	4300	6497	SO:0001819	synonymous_variant	23042	exon23			GCGCCTATCCAGT	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2205A>G	16.37:g.15129970A>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	CCDS32393.1																																																																																			A|0.706;G|0.294	0.294	strong		0.582	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		G	15129970	A	G	15129970	2	3	22	1	0	0	0	0	0	0	0	1	11696	436	16	2		2	PDXDC1	16	15129970	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1091311	15129970	75224783	8119	13227										
NTAN1	123803	hgsc.bcm.edu	37	chr16	15133889	15133889	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccccgatcttgaaaggaTgctctgtaaatctctgcagt	10	10	3	1	rs14347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15133889T>G	ENST00000287706.3	-	8	668	c.576A>C	c.(574-576)gcA>gcC	p.A192A	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	192					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						CTTGAAAGGATGCTCTGTAAA	0.458													G|||	1726	0.344649	0.1846	0.5331	5008	,	,		20562	0.372		0.3072	False		,,,				2504	0.4376				p.A192A		Atlas-SNP	.											.	NTAN1	21	.	0			c.A576C						PASS	.	G		1000,3394	729.0+/-410.0	121,758,1318	115	121	119		576	-1.8	0.9	16	dbSNP_52	119	2588,6012	689.3+/-404.4	360,1868,2072	no	coding-synonymous	NTAN1	NM_173474.2		481,2626,3390	GG,GT,TT		30.093,22.7583,27.6127		192/311	15133889	3588,9406	2197	4300	6497	SO:0001819	synonymous_variant	123803	exon8			AAAGGATGCTCTG	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.576A>C	16.37:g.15133889T>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_173474	Q7Z4Z0	Silent	SNP	ENST00000287706.3	37	CCDS10558.1																																																																																			T|0.710;G|0.290	0.290	strong		0.458	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		G	15133889	T	G	15133889	2	3	22	1	0	0	0	0	0	0	0	1	10695	1451	51	5		5	NTAN1	16	15133889	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3919	15133889	75220864	8120	13228										
MYH11	4629	hgsc.bcm.edu	37	chr16	15808861	15808861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcttcctgcggttggcGttgatgcgctgggactcctc	14	12	0	1	rs587781070|rs149566621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15808861G>A	ENST00000300036.5	-	40	5800	c.5691C>T	c.(5689-5691)aaC>aaT	p.N1897N	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Silent_p.N1897N|MYH11_ENST00000396324.3_Silent_p.N1904N|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Silent_p.N1904N|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1897					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCGGTTGGCGTTGATGCGCT	0.632			T	CBFB	AML								G|||	10	0.00199681	0.0076	0.0	5008	,	,		13948	0.0		0.0	False		,,,				2504	0.0				p.N1904N		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.C5712T						PASS	.	G	,,,,,	31,4363	37.6+/-69.7	0,31,2166	133	125	128		5712,5712,,5691,,5691	-3.5	1	16	dbSNP_134	128	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	,,,,,	0,35,6462	AA,AG,GG		0.0465,0.7055,0.2694	,,,,,	1904/1946,1904/1980,,1897/1973,,1897/1939	15808861	35,12959	2197	4300	6497	SO:0001819	synonymous_variant	4629	exon41			GTTGGCGTTGATG	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5691C>T	16.37:g.15808861G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			G|0.998;A|0.002	0.002	strong		0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15808861	G	A	15808861	2	1	22	1	0	0	0	0	0	0	0	1	10031	1136	40	1		1	MYH11	16	15808861	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	674972	15808861	74545892	8121	13229										
MYH11	4629	hgsc.bcm.edu	37	chr16	15841534	15841534	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgccagttcggaagaaGattttgctctgccctatcct	10	11	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15841534G>T	ENST00000300036.5	-	19	2413	c.2304C>A	c.(2302-2304)atC>atA	p.I768I	MYH11_ENST00000576790.2_Silent_p.I768I|MYH11_ENST00000396324.3_Silent_p.I775I|MYH11_ENST00000452625.2_Silent_p.I775I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	768	Actin-binding. {ECO:0000250}.|Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTCGGAAGAAGATTTTGCTCT	0.512			T	CBFB	AML																																p.I775I		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.C2325A						PASS	.						97	93	94					16																	15841534		2197	4300	6497	SO:0001819	synonymous_variant	4629	exon20			GAAGAAGATTTTG	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2304C>A	16.37:g.15841534G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	96	55	0.572917	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			.	.	none		0.512	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		T	15841534	G	T	15841534	2	4	22	1	0	0	0	0	0	0	0	1	10031	932	33	4		4	MYH11	16	15841534	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32673	15841534	74513219	8122	13230										
MYH11	4629	hgsc.bcm.edu	37	chr16	15850204	15850204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtggctggtaccttcccAgcataatggatgatggagaa	12	9	0	2	rs2272554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15850204A>G	ENST00000300036.5	-	14	1852	c.1743T>C	c.(1741-1743)gcT>gcC	p.A581A	MYH11_ENST00000452625.2_Silent_p.A588A|MYH11_ENST00000396324.3_Silent_p.A588A|MYH11_ENST00000576790.2_Silent_p.A581A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	581	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTACCTTCCCAGCATAATGGA	0.597			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2745	0.548123	0.7481	0.3905	5008	,	,		18888	0.6647		0.4245	False		,,,				2504	0.3967				p.A588A		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.T1764C						PASS	.	G	,,,	2995,1399	459.2+/-352.2	1023,949,225	88	72	77		1764,1764,1743,1743	-10.8	0.1	16	dbSNP_100	77	3489,5111	632.5+/-398.6	727,2035,1538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	,,,	1750,2984,1763	GG,GA,AA		40.5698,31.8389,49.9	,,,	588/1946,588/1980,581/1973,581/1939	15850204	6484,6510	2197	4300	6497	SO:0001819	synonymous_variant	4629	exon15			CTTCCCAGCATAA	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1743T>C	16.37:g.15850204A>G		Somatic	132	0	0	705	WXS	Illumina HiSeq	Phase_I	150	148	0.986667	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			A|0.465;G|0.535	0.535	strong		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		G	15850204	A	G	15850204	2	3	22	1	0	0	0	0	0	0	0	1	10031	175	7	3		3	MYH11	16	15850204	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8670	15850204	74504549	8123	13231										
MYH11	4629	hgsc.bcm.edu	37	chr16	15931975	15931975	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttaatgctggctgcctcGaagccctgcttctccgaggg	11	14	1	0	rs28570191|rs587781074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:15931975G>A	ENST00000300036.5	-	2	244	c.135C>T	c.(133-135)ttC>ttT	p.F45F	MYH11_ENST00000576790.2_Silent_p.F45F|MYH11_ENST00000396324.3_Silent_p.F45F|MYH11_ENST00000452625.2_Silent_p.F45F	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	45					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGCTGCCTCGAAGCCCTGCT	0.562			T	CBFB	AML								G|||	220	0.0439297	0.1543	0.0231	5008	,	,		18928	0.0		0.0	False		,,,				2504	0.0				p.F45F		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.C135T						PASS	.	G	,,,	591,3803	261.9+/-264.6	42,507,1648	166	156	159		135,135,135,135	-0.4	1	16	dbSNP_125	159	17,8583	11.9+/-42.8	0,17,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	,,,	42,524,5931	AA,AG,GG		0.1977,13.4502,4.6791	,,,	45/1946,45/1980,45/1973,45/1939	15931975	608,12386	2197	4300	6497	SO:0001819	synonymous_variant	4629	exon2			TGCCTCGAAGCCC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.135C>T	16.37:g.15931975G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	58	0.591837	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			G|0.951;A|0.049	0.049	strong		0.562	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15931975	G	A	15931975	2	1	22	1	0	0	0	0	0	0	0	1	10031	1049	37	1		1	MYH11	16	15931975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81771	15931975	74422778	8124	13232										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16138322	16138322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggcagccggtgaaggtTgtgtactcctccaaggatcc	12	12	0	1	rs246221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16138322T>C	ENST00000399410.3	+	8	1000	c.825T>C	c.(823-825)gtT>gtC	p.V275V	ABCC1_ENST00000349029.5_Silent_p.V275V|ABCC1_ENST00000399408.2_Silent_p.V275V|ABCC1_ENST00000345148.5_Silent_p.V275V|ABCC1_ENST00000351154.5_Silent_p.V275V|ABCC1_ENST00000346370.5_Silent_p.V275V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	275					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CGGTGAAGGTTGTGTACTCCT	0.582													C|||	2127	0.42472	0.7118	0.3617	5008	,	,		17677	0.4425		0.3171	False		,,,				2504	0.1738				p.V275V		Atlas-SNP	.											.	ABCC1	156	.	0			c.T825C						PASS	.	C	,,,,	2485,1507		792,901,303	63	63	63		825,825,825,825,825	-5.3	0	16	dbSNP_79	63	2451,5883		345,1761,2061	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	1137,2662,2364	CC,CT,TT		29.4096,37.7505,40.0454	,,,,	275/1532,275/1473,275/1476,275/1417,275/1467	16138322	4936,7390	1996	4167	6163	SO:0001819	synonymous_variant	4363	exon8			GAAGGTTGTGTAC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.825T>C	16.37:g.16138322T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	122	47	0.385246	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																			T|0.563;C|0.437	0.437	strong		0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		C	16138322	T	C	16138322	2	2	22	1	0	0	0	0	0	0	0	1	49	1799	63	2		2	ABCC1	16	16138322	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	206347	16138322	74216431	8125	13233										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16139714	16139714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctcatcaagttcgtgaaTgacacgaaggccccagactg	10	11	2	3	rs35587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16139714T>C	ENST00000399410.3	+	9	1237	c.1062T>C	c.(1060-1062)aaT>aaC	p.N354N	ABCC1_ENST00000349029.5_Silent_p.N354N|ABCC1_ENST00000399408.2_Silent_p.N354N|ABCC1_ENST00000345148.5_Silent_p.N354N|ABCC1_ENST00000351154.5_Silent_p.N354N|ABCC1_ENST00000346370.5_Silent_p.N354N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	354	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AGTTCGTGAATGACACGAAGG	0.562											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	2118	0.422923	0.711	0.3573	5008	,	,		21507	0.4415		0.3131	False		,,,				2504	0.1738				p.N354N		Atlas-SNP	.											.	ABCC1	156	.	0			c.T1062C						PASS	.	C	,,,,	2564,1580		821,922,329	47	51	50		1062,1062,1062,1062,1062	-6	0.2	16	dbSNP_76	50	2447,5985		348,1751,2117	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	1169,2673,2446	CC,CT,TT		29.0204,38.1274,39.8457	,,,,	354/1532,354/1473,354/1476,354/1417,354/1467	16139714	5011,7565	2072	4216	6288	SO:0001819	synonymous_variant	4363	exon9			CGTGAATGACACG	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1062T>C	16.37:g.16139714T>C		Somatic	106	0	0	708	WXS	Illumina HiSeq	Phase_I	113	63	0.557522	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																			T|0.576;C|0.424	0.424	strong		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		C	16139714	T	C	16139714	2	2	22	1	0	0	0	0	0	0	0	1	49	1461	51	2		2	ABCC1	16	16139714	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1392	16139714	74215039	8126	13234										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16184366	16184366	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggctcctaccaggagctGctggctcgagacggcgcctt	14	13	0	1	rs28364004	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16184366G>T	ENST00000399410.3	+	19	2740	c.2565G>T	c.(2563-2565)ctG>ctT	p.L855L	ABCC1_ENST00000349029.5_Silent_p.L740L|ABCC1_ENST00000399408.2_Silent_p.L855L|ABCC1_ENST00000345148.5_Silent_p.L855L|ABCC1_ENST00000351154.5_Silent_p.L796L|ABCC1_ENST00000346370.5_Silent_p.L799L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	855	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACCAGGAGCTGCTGGCTCGAG	0.607													G|||	24	0.00479233	0.0136	0.0072	5008	,	,		19519	0.0		0.001	False		,,,				2504	0.0				p.L855L		Atlas-SNP	.											.	ABCC1	156	.	0			c.G2565T						PASS	.	G	,,,,	40,4072		0,40,2016	34	36	36		2565,2388,2397,2220,2565	3.3	1	16	dbSNP_126	36	7,8397		0,7,4195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,47,6211	TT,TG,GG		0.0833,0.9728,0.3755	,,,,	855/1532,796/1473,799/1476,740/1417,855/1467	16184366	47,12469	2056	4202	6258	SO:0001819	synonymous_variant	4363	exon19			GGAGCTGCTGGCT	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2565G>T	16.37:g.16184366G>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																			G|0.983;T|0.017	0.017	strong		0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16184366	G	T	16184366	2	4	22	1	0	0	0	0	0	0	0	1	49	1306	46	4		4	ABCC1	16	16184366	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44652	16184366	74170387	8127	13235										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16230427	16230427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacgtccctggagctggcCcacctgaaggacttcgtgtc	13	13	0	1	rs34526519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16230427C>T	ENST00000399410.3	+	29	4393	c.4218C>T	c.(4216-4218)gcC>gcT	p.A1406A	ABCC1_ENST00000346370.5_Silent_p.A1350A|ABCC1_ENST00000349029.5_Silent_p.A1291A|ABCC1_ENST00000345148.5_Silent_p.A1406A|ABCC1_ENST00000399408.2_Silent_p.A1416A|ABCC1_ENST00000351154.5_Silent_p.A1347A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1406	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGGAGCTGGCCCACCTGAAGG	0.562													C|||	28	0.00559105	0.0166	0.0058	5008	,	,		18552	0.0		0.002	False		,,,				2504	0.0				p.A1406A		Atlas-SNP	.											.	ABCC1	156	.	0			c.C4218T						PASS	.	C	,,,,	64,3882		0,64,1909	51	52	52		4218,4041,4050,3873,4218	-12.1	0.2	16	dbSNP_126	52	6,8310		0,6,4152	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,70,6061	TT,TC,CC		0.0722,1.6219,0.5709	,,,,	1406/1532,1347/1473,1350/1476,1291/1417,1406/1467	16230427	70,12192	1973	4158	6131	SO:0001819	synonymous_variant	4363	exon29			GCTGGCCCACCTG	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4218C>T	16.37:g.16230427C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	118	54	0.457627	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																			C|0.994;T|0.006	0.006	strong		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16230427	C	T	16230427	2	4	22	1	0	0	0	0	0	0	0	1	49	610	22	2		2	ABCC1	16	16230427	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46061	16230427	74124326	8128	13236										
ABCC6	368	hgsc.bcm.edu	37	chr16	16248791	16248791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgtgggcaatggggaccCcgtcgatccagatcccaccc	11	17	0	1	rs57695665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16248791C>T	ENST00000205557.7	-	28	4009	c.3980G>A	c.(3979-3981)gGg>gAg	p.G1327E		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1327	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AATGGGGACCCCGTCGATCCA	0.672													C|||	27	0.00539137	0.0197	0.0014	5008	,	,		16551	0.0		0.0	False		,,,				2504	0.0				p.G1327E		Atlas-SNP	.											.	ABCC6	110	.	0			c.G3980A						PASS	.	C	GLU/GLY	51,4343		0,51,2146	29	25	26		3980	3.6	1	16	dbSNP_129	26	1,8597		0,1,4298	yes	missense	ABCC6	NM_001171.5	98	0,52,6444	TT,TC,CC		0.0116,1.1607,0.4002	probably-damaging	1327/1504	16248791	52,12940	2197	4299	6496	SO:0001583	missense	368	exon28			GGGACCCCGTCGA	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3980G>A	16.37:g.16248791C>T	ENSP00000205557:p.Gly1327Glu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	C	18.13	3.554991	0.65425	0.011607	1.16E-4	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.92149	-2.98	4.53	3.57	0.40892	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.47852	U	0.000212	D	0.90232	0.6946	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90118	0.4197	10	0.62326	D	0.03	.	12.2401	0.54538	0.0:0.9153:0.0:0.0847	rs57695665	1327;1327	O95255;A8Y988	MRP6_HUMAN;.	E	1327;265	ENSP00000205557:G1327E	ENSP00000205557:G1327E	G	-	2	0	ABCC6	16156292	0.891000	0.30450	0.957000	0.39632	0.594000	0.36715	2.702000	0.47102	0.901000	0.36495	0.465000	0.42564	GGG	C|0.994;T|0.006	0.006	strong		0.672	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16248791	C	T	16248791	3	4	22	1	0	0	0	0	1	0	0	0	57	623	22	2	547	2	ABCC6	16	16248791	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18364	16248791	74105962	8129	13237										
ABCC6	368	hgsc.bcm.edu	37	chr16	16259497	16259497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctgaaacccagcgtagaGgagaaacagtggcaggatgg	14	8	0	3	rs60707953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16259497G>T	ENST00000205557.7	-	23	3318	c.3289C>A	c.(3289-3291)Ctc>Atc	p.L1097I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1097	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		L -> I (in dbSNP:rs60707953).		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGCGTAGAGGAGAAACAGT	0.612													G|||	38	0.00758786	0.0242	0.0058	5008	,	,		17411	0.0		0.002	False		,,,				2504	0.0				p.L1097I		Atlas-SNP	.											.	ABCC6	110	.	0			c.C3289A						PASS	.	G	ILE/LEU	94,4300	71.4+/-109.4	1,92,2104	58	51	54		3289	-0.2	0.9	16	dbSNP_129	54	7,8591	4.3+/-15.6	0,7,4292	yes	missense	ABCC6	NM_001171.5	5	1,99,6396	TT,TG,GG		0.0814,2.1393,0.7774	benign	1097/1504	16259497	101,12891	2197	4299	6496	SO:0001583	missense	368	exon23			CGTAGAGGAGAAA	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3289C>A	16.37:g.16259497G>T	ENSP00000205557:p.Leu1097Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	14	0.00641025641025641	13	0.026422764227642278	1	0.0027624309392265192	0	0.0	0	0.0	G	8.586	0.883526	0.17467	0.021393	8.14E-4	ENSG00000091262	ENST00000205557	D	0.89681	-2.55	5.38	-0.254	0.12992	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.180137	0.27482	U	0.019165	T	0.63367	0.2505	L	0.33710	1.025	0.80722	D	1	D	0.53619	0.961	P	0.48089	0.566	T	0.68205	-0.5470	10	0.20519	T	0.43	.	5.9149	0.19050	0.3303:0.2203:0.4494:0.0	rs60707953;rs61731991	1097	O95255	MRP6_HUMAN	I	1097	ENSP00000205557:L1097I	ENSP00000205557:L1097I	L	-	1	0	ABCC6	16166998	0.280000	0.24249	0.932000	0.37286	0.098000	0.18820	0.223000	0.17719	0.247000	0.21414	0.561000	0.74099	CTC	G|0.992;T|0.008	0.008	strong		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16259497	G	T	16259497	3	4	22	1	0	0	0	0	1	0	0	0	57	1000	35	4	1258	4	ABCC6	16	16259497	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10706	16259497	74095256	8130	13238										
ABCC6	368	hgsc.bcm.edu	37	chr16	16276292	16276292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccccaattgaagtgtggaTtccctcagggaagctgtcca	10	12	1	1	rs59593133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16276292T>C	ENST00000205557.7	-	17	2253	c.2224A>G	c.(2224-2226)Atc>Gtc	p.I742V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	742	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		I -> V (in dbSNP:rs59593133). {ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:19339160}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GAAGTGTGGATTCCCTCAGGG	0.567													C|||	115	0.0229633	0.0552	0.0101	5008	,	,		18398	0.0		0.0129	False		,,,				2504	0.0225				p.I742V		Atlas-SNP	.											.	ABCC6	110	.	0			c.A2224G						PASS	.	C	VAL/ILE	227,4167	804.8+/-415.8	4,219,1974	92	91	91	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2224	-0.3	0	16	dbSNP_129	91	112,8488	814.3+/-407.0	0,112,4188	yes	missense	ABCC6	NM_001171.5	29	4,331,6162	CC,CT,TT		1.3023,5.1661,2.6089	benign	742/1504	16276292	339,12655	2197	4300	6497	SO:0001583	missense	368	exon17			TGTGGATTCCCTC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2224A>G	16.37:g.16276292T>C	ENSP00000205557:p.Ile742Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	129	65	0.503876	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	43	0.019688644688644688	30	0.06097560975609756	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	3.153	-0.173855	0.06421	0.051661	0.013023	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.90261	-2.64;-2.64	4.62	-0.32	0.12721	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.278710	0.05798	N	0.611594	T	0.39572	0.1083	N	0.16790	0.44	0.22629	N	0.998919	B	0.02656	0.0	B	0.04013	0.001	T	0.56486	-0.7971	10	0.38643	T	0.18	.	6.5361	0.22355	0.0:0.4662:0.1283:0.4055	rs59593133;rs61731976	742	O95255	MRP6_HUMAN	V	742	ENSP00000205557:I742V;ENSP00000405002:I742V	ENSP00000205557:I742V	I	-	1	0	ABCC6	16183793	0.044000	0.20184	0.037000	0.18230	0.002000	0.02628	0.428000	0.21395	-0.160000	0.11002	-0.320000	0.08662	ATC	T|0.975;C|0.025	0.025	strong		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			C	16276292	T	C	16276292	3	2	22	1	0	0	0	0	1	0	0	0	57	1493	52	2	2347	2	ABCC6	16	16276292	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16795	16276292	74078461	8131	13239										
ABCC6	368	hgsc.bcm.edu	37	chr16	16281007	16281007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggaacttgagtctacgAcaccagggtcaacttcttcc	9	12	3	2	rs12931472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16281007A>G	ENST00000205557.7	-	14	1870	c.1841T>C	c.(1840-1842)gTc>gCc	p.V614A	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	614			V -> A (in dbSNP:rs12931472). {ECO:0000269|PubMed:10835642, ECO:0000269|PubMed:11536079, ECO:0000269|PubMed:11776382, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:19339160}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TGAGTCTACGACACCAGGGTC	0.602											OREG0023640	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1700	0.339457	0.3328	0.4957	5008	,	,		16349	0.1518		0.5	False		,,,				2504	0.2658				p.V614A		Atlas-SNP	.											.	ABCC6	110	.	0			c.T1841C						PASS	.	G	ALA/VAL	1687,2707	649.8+/-398.9	316,1055,826	50	41	44	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1841	3.8	0	16	dbSNP_121	44	4342,4258	571.3+/-389.5	1096,2150,1054	yes	missense	ABCC6	NM_001171.5	64	1412,3205,1880	GG,GA,AA		49.5116,38.3933,46.3983	benign	614/1504	16281007	6029,6965	2197	4300	6497	SO:0001583	missense	368	exon14			TCTACGACACCAG	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1841T>C	16.37:g.16281007A>G	ENSP00000205557:p.Val614Ala	Somatic	76	0	0	709	WXS	Illumina HiSeq	Phase_I	63	35	0.555556	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	817	0.3740842490842491	178	0.3617886178861789	174	0.48066298342541436	91	0.1590909090909091	374	0.49340369393139843	G	4.895	0.166267	0.09339	0.383933	0.504884	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.90069	-2.56;-2.61	4.84	3.85	0.44370	.	0.663319	0.12998	N	0.421879	T	0.00012	0.0000	N	0.03983	-0.305	0.58432	P	5.000000000032756E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38672	-0.9650	9	0.19147	T	0.46	.	3.5818	0.07957	0.0941:0.1734:0.5664:0.1661	rs12931472;rs52812178;rs56825606;rs12931472	626;614	F5GWQ0;O95255	.;MRP6_HUMAN	A	614;614;626	ENSP00000205557:V614A;ENSP00000405002:V614A	ENSP00000205557:V614A	V	-	2	0	ABCC6	16188508	0.006000	0.16342	0.002000	0.10522	0.011000	0.07611	1.037000	0.30241	0.432000	0.26286	-0.215000	0.12644	GTC	A|0.599;G|0.400	0.400	strong		0.602	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16281007	A	G	16281007	3	3	22	1	0	0	0	0	1	0	0	0	57	275	10	2	2742	2	ABCC6	16	16281007	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4715	16281007	74073746	8132	13240										
ABCC6	368	hgsc.bcm.edu	37	chr16	16291983	16291983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacgtccacggacaccagAttgaccacatcacccaccgc	7	18	1	2	rs9930886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:16291983A>G	ENST00000205557.7	-	10	1262	c.1233T>C	c.(1231-1233)aaT>aaC	p.N411N	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	411	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		N -> K (in PXE; autosomal dominant; dbSNP:rs9930886). {ECO:0000269|PubMed:11536079, ECO:0000269|PubMed:15459974}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CGGACACCAGATTGACCACAT	0.627													G|||	1416	0.282748	0.2526	0.3127	5008	,	,		12770	0.3214		0.326	False		,,,				2504	0.2178				p.N411N		Atlas-SNP	.											.	ABCC6	110	.	0			c.T1233C	GRCh37	CM014481	ABCC6	M	rs9930886	PASS	.	G		1119,3275	700.3+/-406.6	134,851,1212	63	44	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1233	2.3	1	16	dbSNP_119	51	2952,5648	649.3+/-400.6	502,1948,1850	no	coding-synonymous	ABCC6	NM_001171.5		636,2799,3062	GG,GA,AA		34.3256,25.4665,31.3298		411/1504	16291983	4071,8923	2197	4300	6497	SO:0001819	synonymous_variant	368	exon10			CACCAGATTGACC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1233T>C	16.37:g.16291983A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	144	68	0.472222	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	CCDS10568.1																																																																																			A|0.707;G|0.293	0.293	strong		0.627	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16291983	A	G	16291983	2	3	22	1	0	0	0	0	0	0	0	1	57	330	12	2		2	ABCC6	16	16291983	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10976	16291983	74062770	8133	13241										
XYLT1	64131	hgsc.bcm.edu	37	chr16	17211545	17211545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagaaggtcagaggcgcaaCgaggaatttggtctctgcaa	14	8	2	2	rs7200466	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:17211545C>T	ENST00000261381.6	-	11	2599	c.2515G>A	c.(2515-2517)Gtt>Att	p.V839I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	839			V -> I (in dbSNP:rs7200466).		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGGCGCAACGAGGAATTTG	0.547													C|||	318	0.0634984	0.2322	0.0144	5008	,	,		18992	0.0		0.001	False		,,,				2504	0.0				p.V839I		Atlas-SNP	.											.	XYLT1	147	.	0			c.G2515A						PASS	.	C	ILE/VAL	849,3545	334.4+/-303.4	80,689,1428	74	70	72		2515	4.2	0.7	16	dbSNP_116	72	19,8581	10.5+/-38.8	0,19,4281	yes	missense	XYLT1	NM_022166.3	29	80,708,5709	TT,TC,CC		0.2209,19.3218,6.68	possibly-damaging	839/960	17211545	868,12126	2197	4300	6497	SO:0001583	missense	64131	exon11			GCGCAACGAGGAA	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2515G>A	16.37:g.17211545C>T	ENSP00000261381:p.Val839Ile	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	182	90	0.494505	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	110	0.05036630036630037	104	0.21138211382113822	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	12.04	1.818446	0.32145	0.193218	0.002209	ENSG00000103489	ENST00000261381	T	0.08984	3.03	5.11	4.16	0.48862	.	0.119796	0.64402	D	0.000019	T	0.00012	0.0000	L	0.42008	1.315	0.27093	P	0.9628188	B	0.25521	0.128	B	0.22753	0.041	T	0.40040	-0.9584	9	0.35671	T	0.21	-12.9866	8.7024	0.34334	0.0:0.7608:0.0:0.2392	rs7200466;rs52799636;rs7200466	839	Q86Y38	XYLT1_HUMAN	I	839	ENSP00000261381:V839I	ENSP00000261381:V839I	V	-	1	0	XYLT1	17119046	0.156000	0.22821	0.746000	0.31095	0.884000	0.51177	0.636000	0.24644	1.273000	0.44346	-0.251000	0.11542	GTT	C|0.934;T|0.066	0.066	strong		0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		T	17211545	C	T	17211545	3	4	22	1	0	0	0	0	1	0	0	0	17460	536	19	1	372	1	XYLT1	16	17211545	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	919562	17211545	73143208	8134	13242										
XYLT1	64131	hgsc.bcm.edu	37	chr16	17211729	17211729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaatgacggtcacggtcacAttaggtcccttcccccactt	7	15	2	1	rs7201590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:17211729A>G	ENST00000261381.6	-	11	2415	c.2331T>C	c.(2329-2331)aaT>aaC	p.N777N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	777					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACGGTCACATTAGGTCCCT	0.567													a|||	318	0.0634984	0.2322	0.0144	5008	,	,		18722	0.0		0.001	False		,,,				2504	0.0				p.N777N		Atlas-SNP	.											.	XYLT1	147	.	0			c.T2331C						PASS	.	A		846,3548	333.6+/-303.0	80,686,1431	179	146	157		2331	-3.3	1	16	dbSNP_116	157	19,8581	10.5+/-38.8	0,19,4281	no	coding-synonymous	XYLT1	NM_022166.3		80,705,5712	GG,GA,AA		0.2209,19.2535,6.6569		777/960	17211729	865,12129	2197	4300	6497	SO:0001819	synonymous_variant	64131	exon11			GGTCACATTAGGT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2331T>C	16.37:g.17211729A>G		Somatic	262	1	0.00381679		WXS	Illumina HiSeq	Phase_I	275	160	0.581818	NM_022166	Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																			A|0.934;G|0.066	0.066	strong		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		G	17211729	A	G	17211729	2	3	22	1	0	0	0	0	0	0	0	1	17460	214	8	2		2	XYLT1	16	17211729	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	184	17211729	73143024	8135	13243										
XYLT1	64131	hgsc.bcm.edu	37	chr16	17353090	17353090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggctgctgttggctgcgGctctgtccccgggaggcagc	17	13	1	0	rs113276942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:17353090G>C	ENST00000261381.6	-	3	752	c.668C>G	c.(667-669)gCc>gGc	p.A223G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	223					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTGGCTGCGGCTCTGTCCCC	0.592													G|||	265	0.0529153	0.1914	0.0173	5008	,	,		17039	0.0		0.0	False		,,,				2504	0.0				p.A223G		Atlas-SNP	.											XYLT1,NS,carcinoma,+1,1	XYLT1	147	1	0			c.C668G						PASS	.	G	GLY/ALA	697,3697	288.1+/-279.7	67,563,1567	106	117	113		668	4.5	0	16	dbSNP_132	113	19,8581	11.2+/-40.8	0,19,4281	yes	missense	XYLT1	NM_022166.3	60	67,582,5848	CC,CG,GG		0.2209,15.8625,5.5102	benign	223/960	17353090	716,12278	2197	4300	6497	SO:0001583	missense	64131	exon3			GCTGCGGCTCTGT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.668C>G	16.37:g.17353090G>C	ENSP00000261381:p.Ala223Gly	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	197	110	0.558376	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	89	0.04075091575091575	81	0.16463414634146342	8	0.022099447513812154	0	0.0	0	0.0	G	9.870	1.198774	0.22121	0.158625	0.002209	ENSG00000103489	ENST00000261381	T	0.04809	3.55	5.43	4.47	0.54385	.	0.429861	0.27500	N	0.019098	T	0.00039	0.0001	L	0.44542	1.39	0.09310	N	1	B	0.32245	0.361	B	0.19148	0.024	T	0.49021	-0.8982	10	0.31617	T	0.26	-19.7884	11.4244	0.50001	0.1501:0.0:0.8499:0.0	.	223	Q86Y38	XYLT1_HUMAN	G	223	ENSP00000261381:A223G	ENSP00000261381:A223G	A	-	2	0	XYLT1	17260591	0.015000	0.18098	0.011000	0.14972	0.446000	0.32137	1.886000	0.39688	1.296000	0.44742	0.655000	0.94253	GCC	G|0.950;C|0.050	0.050	strong		0.592	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		C	17353090	G	C	17353090	3	2	22	1	0	0	0	0	1	0	0	0	17460	1203	42	4	2251	4	XYLT1	16	17353090	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	141361	17353090	73001663	8136	13244										
ITPRIPL2	162073	hgsc.bcm.edu	37	chr16	19126492	19126492	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccctttgctgatgccttcTgcgtggatgtgcgcgggcgg	15	11	1	1	rs8051801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19126492T>A	ENST00000381440.3	+	1	1239	c.709T>A	c.(709-711)Tgc>Agc	p.C237S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	237			C -> S (in dbSNP:rs8051801).			integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGATGCCTTCTGCGTGGATGT	0.657											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	43	0.00858626	0.0325	0.0	5008	,	,		17049	0.0		0.0	False		,,,				2504	0.0				p.C237S		Atlas-SNP	.											.	ITPRIPL2	40	.	0			c.T709A						PASS	.	T	SER/CYS	146,4248	100.7+/-139.4	3,140,2054	74	78	77		709	4.7	1	16	dbSNP_116	77	0,8600		0,0,4300	yes	missense	ITPRIPL2	NM_001034841.3	112	3,140,6354	AA,AT,TT		0.0,3.3227,1.1236	probably-damaging	237/536	19126492	146,12848	2197	4300	6497	SO:0001583	missense	162073	exon1			GCCTTCTGCGTGG		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.709T>A	16.37:g.19126492T>A	ENSP00000370849:p.Cys237Ser	Somatic	86	0	0	730	WXS	Illumina HiSeq	Phase_I	85	36	0.423529	NM_001034841		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	T	22.2	4.253591	0.80135	0.033227	0.0	ENSG00000205730	ENST00000381440	T	0.16597	2.33	4.71	4.71	0.59529	.	0.382932	0.21183	U	0.078791	T	0.10895	0.0266	L	0.27053	0.805	0.46521	D	0.999086	D	0.71674	0.998	D	0.78314	0.991	T	0.01452	-1.1351	10	0.72032	D	0.01	-13.7638	13.3495	0.60593	0.0:0.0:0.0:1.0	rs8051801;rs8051801	237	Q3MIP1	IPIL2_HUMAN	S	237	ENSP00000370849:C237S	ENSP00000370849:C237S	C	+	1	0	ITPRIPL2	19033993	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.264000	0.58859	1.743000	0.51761	0.533000	0.62120	TGC	T|0.989;A|0.011	0.011	strong		0.657	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		A	19126492	T	A	19126492	3	1	22	1	0	0	0	0	1	0	0	0	7925	1580	55	5	711	5	ITPRIPL2	16	19126492	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1773402	19126492	71228261	8137	13245										
ITPRIPL2	162073	hgsc.bcm.edu	37	chr16	19126578	19126578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagcgctccttggccacTgtgcgttacagcctggaggg	14	13	0	0	rs114869688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19126578T>C	ENST00000381440.3	+	1	1325	c.795T>C	c.(793-795)acT>acC	p.T265T	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	265						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTTGGCCACTGTGCGTTACA	0.642											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	16	0.00319489	0.0121	0.0	5008	,	,		17325	0.0		0.0	False		,,,				2504	0.0				p.T265T		Atlas-SNP	.											ITPRIPL2,colon,carcinoma,+1,1	ITPRIPL2	40	1	0			c.T795C						PASS	.	T		72,4322	63.5+/-100.7	0,72,2125	94	95	95		795	-9.6	0.3	16	dbSNP_132	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITPRIPL2	NM_001034841.3		0,73,6424	CC,CT,TT		0.0116,1.6386,0.5618		265/536	19126578	73,12921	2197	4300	6497	SO:0001819	synonymous_variant	162073	exon1			GGCCACTGTGCGT		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.795T>C	16.37:g.19126578T>C		Somatic	106	0	0	730	WXS	Illumina HiSeq	Phase_I	88	38	0.431818	NM_001034841		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																			T|0.995;C|0.005	0.005	strong		0.642	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		C	19126578	T	C	19126578	2	2	22	1	0	0	0	0	0	0	0	1	7925	1567	55	3		3	ITPRIPL2	16	19126578	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86	19126578	71228175	8138	13246										
CP110	9738	hgsc.bcm.edu	37	chr16	19547357	19547357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttgaatgttcctgctacAtttccaaatagctttccaag	5	10	0	1	rs10492785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19547357A>G	ENST00000381396.5	+	4	613	c.366A>G	c.(364-366)acA>acG	p.T122T	CCP110_ENST00000396208.2_Silent_p.T122T|CCP110_ENST00000396212.2_Silent_p.T122T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	122	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T122T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCCTGCTACATTTCCAAATA	0.393													A|||	1088	0.217252	0.2474	0.2536	5008	,	,		16203	0.3849		0.0746	False		,,,				2504	0.1247				p.T122T		Atlas-SNP	.											CCP110,NS,carcinoma,0,1	CCP110	57	1	1	Substitution - coding silent(1)	stomach(1)	c.A366G						PASS	.	A	,	929,3465	356.4+/-313.5	86,757,1354	76	76	76		366,366	-1.9	0	16	dbSNP_119	76	559,8041	151.9+/-206.6	15,529,3756	no	coding-synonymous,coding-synonymous	CCP110	NM_001199022.1,NM_014711.4	,	101,1286,5110	GG,GA,AA		6.5,21.1425,11.4514	,	122/1013,122/992	19547357	1488,11506	2197	4300	6497	SO:0001819	synonymous_variant	9738	exon4			TGCTACATTTCCA	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.366A>G	16.37:g.19547357A>G		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	156	65	0.416667	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	CCDS55992.1																																																																																			A|0.802;G|0.198	0.198	strong		0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		G	19547357	A	G	19547357	2	3	22	1	0	0	0	0	0	0	0	1	3788	204	8	2		2	CP110	16	19547357	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	420779	19547357	70807396	8139	13247										
CP110	9738	hgsc.bcm.edu	37	chr16	19547503	19547503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagaaggatttaattctcCgaagcaatgtgatagttcca	8	7	2	2	rs3751821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19547503C>T	ENST00000381396.5	+	4	759	c.512C>T	c.(511-513)cCg>cTg	p.P171L	CCP110_ENST00000396208.2_Missense_Mutation_p.P171L|CCP110_ENST00000396212.2_Missense_Mutation_p.P171L	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	171	CEP97 binding.		P -> L (in dbSNP:rs3751821).		cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.P171L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTTAATTCTCCGAAGCAATGT	0.378													C|||	1203	0.240216	0.3313	0.2579	5008	,	,		18797	0.3849		0.0755	False		,,,				2504	0.1247				p.P171L		Atlas-SNP	.											CCP110,NS,carcinoma,0,1	CCP110	57	1	1	Substitution - Missense(1)	stomach(1)	c.C512T						PASS	.	C	LEU/PRO,LEU/PRO	1269,3125	431.4+/-342.9	170,929,1098	97	105	102		512,512	-2.3	0.4	16	dbSNP_107	102	565,8035	152.5+/-207.1	15,535,3750	yes	missense,missense	CCP110	NM_001199022.1,NM_014711.4	98,98	185,1464,4848	TT,TC,CC		6.5698,28.8803,14.1142	benign,benign	171/1013,171/992	19547503	1834,11160	2197	4300	6497	SO:0001583	missense	9738	exon4			ATTCTCCGAAGCA	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.512C>T	16.37:g.19547503C>T	ENSP00000370803:p.Pro171Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	521	0.23855311355311357	175	0.3556910569105691	77	0.212707182320442	215	0.3758741258741259	54	0.0712401055408971	C	0.441	-0.898743	0.02472	0.288803	0.065698	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.13657	2.57;2.58;2.57	5.89	-2.28	0.06826	.	1.287990	0.05136	N	0.493485	T	0.00012	0.0000	N	0.00707	-1.245	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46803	-0.9165	9	0.29301	T	0.29	-0.0337	7.3644	0.26764	0.1116:0.4194:0.0:0.4689	rs3751821;rs52803660;rs60078054;rs3751821	171;171	O43303;O43303-2	CP110_HUMAN;.	L	171	ENSP00000379515:P171L;ENSP00000370803:P171L;ENSP00000379511:P171L	ENSP00000370803:P171L	P	+	2	0	CCP110	19455004	0.000000	0.05858	0.357000	0.25798	0.964000	0.63967	-0.239000	0.08965	-0.069000	0.12931	-0.290000	0.09829	CCG	C|0.801;T|0.199	0.199	strong		0.378	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		T	19547503	C	T	19547503	3	4	22	1	0	0	0	0	1	0	0	0	3788	652	23	1	522	1	CP110	16	19547503	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146	19547503	70807250	8140	13248										
C16orf62	57020	hgsc.bcm.edu	37	chr16	19590444	19590444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaggagctggatgacttTgaggaggtgagcaagtcatt	16	5	1	3	rs11866050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19590444T>C	ENST00000251143.5	+	6	516	c.504T>C	c.(502-504)ttT>ttC	p.F168F	C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000417362.2_Silent_p.F168F|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000448695.1_Silent_p.F46F|C16orf62_ENST00000438132.3_Silent_p.F257F|C16orf62_ENST00000542263.1_Silent_p.F257F			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	168				F -> S (in Ref. 3; CAH10399). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGATGACTTTGAGGAGGTGA	0.502													T|||	359	0.0716853	0.2057	0.0144	5008	,	,		18705	0.0337		0.0209	False		,,,				2504	0.0225				p.F257F		Atlas-SNP	.											.	C16orf62	164	.	0			c.T771C						PASS	.	T		633,3761	272.8+/-271.0	34,565,1598	94	83	87		771	-1.1	1	16	dbSNP_120	87	152,8448	72.3+/-134.9	0,152,4148	no	coding-synonymous	C16orf62	NM_020314.5		34,717,5746	CC,CT,TT		1.7674,14.406,6.0412		257/1053	19590444	785,12209	2197	4300	6497	SO:0001819	synonymous_variant	57020	exon6			TGACTTTGAGGAG		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.504T>C	16.37:g.19590444T>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	108	61	0.564815	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																				T|0.937;C|0.063	0.063	strong		0.502	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		C	19590444	T	C	19590444	2	2	22	1	0	0	0	0	0	0	0	1	1825	1809	63	2		2	C16orf62	16	19590444	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42941	19590444	70764309	8141	13249										
C16orf88	400506	hgsc.bcm.edu	37	chr16	19726124	19726124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggttctacatgctcctcGcaaagggtgctgacaccctt	9	13	2	1	rs58543897	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19726124G>A	ENST00000219837.7	-	2	312	c.234C>T	c.(232-234)tgC>tgT	p.C78C	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	78	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CATGCTCCTCGCAAAGGGTGC	0.542													G|||	271	0.0541134	0.1906	0.0245	5008	,	,		18472	0.0		0.002	False		,,,				2504	0.0				p.C78C		Atlas-SNP	.											.	C16orf88	41	.	0			c.C234T						PASS	.	G		700,3352		55,590,1381	65	64	64		234	-9.2	0	16	dbSNP_129	64	22,8366		0,22,4172	no	coding-synonymous	C16orf88	NM_001012991.2		55,612,5553	AA,AG,GG		0.2623,17.2754,5.8039		78/459	19726124	722,11718	2026	4194	6220	SO:0001819	synonymous_variant	400506	exon2			CTCCTCGCAAAGG	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.234C>T	16.37:g.19726124G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	107	54	0.504673	NM_001012991	O43328|Q5FWF3	Silent	SNP	ENST00000219837.7	37	CCDS42127.1																																																																																			G|0.972;A|0.028	0.028	strong		0.542	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		A	19726124	G	A	19726124	2	1	22	1	0	0	0	0	0	0	0	1	1841	1079	38	1		1	C16orf88	16	19726124	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	135680	19726124	70628629	8142	13250										
IQCK	124152	hgsc.bcm.edu	37	chr16	19800213	19800213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagaagaggaagcagcccTctacattcaatccttctgga	9	11	3	2	rs7191155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19800213T>C	ENST00000320394.6	+	8	1358	c.659T>C	c.(658-660)cTc>cCc	p.L220P	IQCK_ENST00000541926.1_Intron|IQCK_ENST00000433597.2_Missense_Mutation_p.L132P|IQCK_ENST00000564186.1_Missense_Mutation_p.L220P|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	220			L -> P (in dbSNP:rs7191155).							kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GAAGCAGCCCTCTACATTCAA	0.488													T|||	895	0.178714	0.1014	0.111	5008	,	,		17116	0.2133		0.1571	False		,,,				2504	0.318				p.L220P		Atlas-SNP	.											.	IQCK	35	.	0			c.T659C						PASS	.	T	PRO/LEU	429,3965	207.5+/-228.8	29,371,1797	119	116	117		659	5.6	0	16	dbSNP_116	117	1508,7092	285.8+/-297.4	150,1208,2942	yes	missense	IQCK	NM_153208.1	98	179,1579,4739	CC,CT,TT		17.5349,9.7633,14.9069	possibly-damaging	220/288	19800213	1937,11057	2197	4300	6497	SO:0001583	missense	124152	exon8			CAGCCCTCTACAT	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.659T>C	16.37:g.19800213T>C	ENSP00000324901:p.Leu220Pro	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	111	56	0.504505	NM_153208	B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	CCDS10580.1	351	0.16071428571428573	75	0.1524390243902439	42	0.11602209944751381	121	0.21153846153846154	113	0.14907651715039577	T	12.64	1.999548	0.35320	0.097633	0.175349	ENSG00000174628	ENST00000320394;ENST00000433597	T;T	0.25579	1.79;1.79	5.61	5.61	0.85477	.	0.587224	0.15180	N	0.276170	T	0.00039	0.0001	L	0.59436	1.845	0.58432	P	4.000000000004E-6	D	0.63880	0.993	P	0.59487	0.858	T	0.11421	-1.0588	8	.	.	.	-7.9261	10.0302	0.42096	0.1502:0.0:0.0:0.8498	rs7191155;rs52798290;rs57181115;rs7191155	220	Q8N0W5	IQCK_HUMAN	P	220;132	ENSP00000324901:L220P;ENSP00000406013:L132P	.	L	+	2	0	IQCK	19707714	0.020000	0.18652	0.003000	0.11579	0.051000	0.14879	2.363000	0.44178	2.125000	0.65367	0.533000	0.62120	CTC	T|0.841;C|0.159	0.159	strong		0.488	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		C	19800213	T	C	19800213	3	2	22	1	0	0	0	0	1	0	0	0	7813	1551	54	3	685	3	IQCK	16	19800213	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74089	19800213	70554540	8143	13251										
GPRC5B	51704	hgsc.bcm.edu	37	chr16	19883364	19883364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgatggccaaggtggggtcGttccaggcatccccctgctg	15	12	0	1	rs61742688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:19883364G>A	ENST00000300571.2	-	2	995	c.804C>T	c.(802-804)aaC>aaT	p.N268N	GPRC5B_ENST00000569847.1_Silent_p.N268N|GPRC5B_ENST00000569479.1_Silent_p.N268N|GPRC5B_ENST00000535671.1_Silent_p.N268N|GPRC5B_ENST00000537135.1_Silent_p.N294N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	268					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGGGGTCGTTCCAGGCAT	0.617													G|||	331	0.0660942	0.0908	0.0663	5008	,	,		18744	0.0		0.1252	False		,,,				2504	0.0399				p.N268N		Atlas-SNP	.											.	GPRC5B	54	.	0			c.C804T						PASS	.	G		356,4038	183.6+/-211.2	21,314,1862	77	83	81		804	-3.3	1	16	dbSNP_129	81	1228,7372	247.6+/-275.6	104,1020,3176	no	coding-synonymous	GPRC5B	NM_016235.1		125,1334,5038	AA,AG,GG		14.2791,8.102,12.1902		268/404	19883364	1584,11410	2197	4300	6497	SO:0001819	synonymous_variant	51704	exon2			GGGGTCGTTCCAG	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.804C>T	16.37:g.19883364G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	74	44	0.594595	NM_016235	D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	CCDS10581.1																																																																																			A|0.107;C|0.000;G|0.893	0.107	strong		0.617	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			A	19883364	G	A	19883364	2	1	22	1	0	0	0	0	0	0	0	1	6725	1136	40	1		1	GPRC5B	16	19883364	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83151	19883364	70471389	8144	13252										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20423000	20423000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctggatgtgtggagtcGgctggaagaggtgaagcctg	19	5	0	2	rs9928053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20423000G>A	ENST00000331849.4	+	2	341	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	ACSM5_ENST00000575584.1_Missense_Mutation_p.R65Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	65			R -> Q (in dbSNP:rs9928053).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTGTGGAGTCGGCTGGAAGAG	0.557													G|||	399	0.0796725	0.1831	0.0159	5008	,	,		19758	0.0536		0.0169	False		,,,				2504	0.0767				p.R65Q		Atlas-SNP	.											.	ACSM5	101	.	0			c.G194A						PASS	.	G	GLN/ARG	759,3647	309.1+/-290.9	63,633,1507	77	63	68		194	3.6	1	16	dbSNP_119	68	181,8419	82.3+/-144.9	3,175,4122	no	missense	ACSM5	NM_017888.2	43	66,808,5629	AA,AG,GG		2.1047,17.2265,7.2274	benign	65/580	20423000	940,12066	2203	4300	6503	SO:0001583	missense	54988	exon2			GGAGTCGGCTGGA		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.194G>A	16.37:g.20423000G>A	ENSP00000327916:p.Arg65Gln	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	148	0.06776556776556776	91	0.18495934959349594	8	0.022099447513812154	35	0.06118881118881119	14	0.018469656992084433	G	1.799	-0.477572	0.04414	0.172265	0.021047	ENSG00000183549	ENST00000331849	T	0.50277	0.75	4.69	3.61	0.41365	.	0.245204	0.28927	N	0.013696	T	0.00039	0.0001	N	0.02315	-0.6	0.47659	P	5.140000000000144E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.20306	-1.0279	9	0.02654	T	1	-15.1236	3.7258	0.08474	0.6565:0.0:0.1821:0.1615	rs9928053;rs52796138;rs9928053	65	Q6NUN0	ACSM5_HUMAN	Q	65	ENSP00000327916:R65Q	ENSP00000327916:R65Q	R	+	2	0	ACSM5	20330501	0.000000	0.05858	1.000000	0.80357	0.749000	0.42624	0.988000	0.29616	0.826000	0.34661	-0.302000	0.09304	CGG	G|0.922;A|0.078	0.078	strong		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20423000	G	A	20423000	3	1	22	1	0	0	0	0	1	0	0	0	187	1116	39	1	196	1	ACSM5	16	20423000	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	539636	20423000	69931753	8145	13253										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20430678	20430678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtggatgccatcagtgccGaatgcccctccctccagacc	11	16	1	1	rs7192210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20430678G>A	ENST00000331849.4	+	4	691	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	ACSM5_ENST00000575584.1_Missense_Mutation_p.E182K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CATCAGTGCCGAATGCCCCTC	0.592													G|||	495	0.0988419	0.2564	0.0173	5008	,	,		18285	0.0496		0.0179	False		,,,				2504	0.0777				p.E182K		Atlas-SNP	.											.	ACSM5	101	.	0			c.G544A						PASS	.	G	LYS/GLU	993,3413	371.7+/-320.1	110,773,1320	73	62	65		544	4.7	0.9	16	dbSNP_116	65	183,8417	82.6+/-145.2	3,177,4120	no	missense	ACSM5	NM_017888.2	56	113,950,5440	AA,AG,GG		2.1279,22.5374,9.042	benign	182/580	20430678	1176,11830	2203	4300	6503	SO:0001583	missense	54988	exon4			AGTGCCGAATGCC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.544G>A	16.37:g.20430678G>A	ENSP00000327916:p.Glu182Lys	Somatic	169	1	0.00591716		WXS	Illumina HiSeq	Phase_I	219	219	1	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	177	0.08104395604395605	121	0.2459349593495935	8	0.022099447513812154	33	0.057692307692307696	15	0.01978891820580475	G	8.211	0.800421	0.16397	0.225374	0.021279	ENSG00000183549	ENST00000331849	T	0.39592	1.07	4.65	4.65	0.58169	AMP-dependent synthetase/ligase (1);	0.374166	0.25759	N	0.028498	T	0.00012	0.0000	L	0.41124	1.26	0.30506	P	0.769902	B	0.10296	0.003	B	0.08055	0.003	T	0.11891	-1.0569	9	0.23302	T	0.38	-16.6401	13.3868	0.60801	0.0:0.2663:0.7337:0.0	rs7192210;rs52789304;rs60520050;rs7192210	182	Q6NUN0	ACSM5_HUMAN	K	182	ENSP00000327916:E182K	ENSP00000327916:E182K	E	+	1	0	ACSM5	20338179	0.126000	0.22350	0.944000	0.38274	0.067000	0.16453	0.906000	0.28517	2.561000	0.86390	0.650000	0.86243	GAA	G|0.904;A|0.096	0.096	strong		0.592	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20430678	G	A	20430678	3	1	22	1	0	0	0	0	1	0	0	0	187	1059	37	1	554	1	ACSM5	16	20430678	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7678	20430678	69924075	8146	13254										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20432605	20432605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctacagagcacaactgcAtgaggacaaagagtcgagac	10	10	1	4	rs59025904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20432605A>G	ENST00000331849.4	+	5	796	c.649A>G	c.(649-651)Atg>Gtg	p.M217V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	217			M -> V (in dbSNP:rs59025904).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCACAACTGCATGAGGACAAA	0.517													G|||	684	0.136581	0.3079	0.0605	5008	,	,		14543	0.0615		0.0487	False		,,,				2504	0.1268				p.M217V		Atlas-SNP	.											.	ACSM5	101	.	0			c.A649G						PASS	.	G	VAL/MET	1224,3182	706.7+/-407.4	172,880,1151	61	60	60		649	1.2	0	16	dbSNP_129	60	496,8104	797.0+/-407.5	13,470,3817	yes	missense	ACSM5	NM_017888.2	21	185,1350,4968	GG,GA,AA		5.7674,27.7803,13.2247	benign	217/580	20432605	1720,11286	2203	4300	6503	SO:0001583	missense	54988	exon5			AACTGCATGAGGA		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.649A>G	16.37:g.20432605A>G	ENSP00000327916:p.Met217Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	60	59	0.983333	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	250	0.11446886446886446	145	0.29471544715447157	27	0.07458563535911603	37	0.06468531468531469	41	0.05408970976253298	G	0.001	-3.144640	0.00029	0.277803	0.057674	ENSG00000183549	ENST00000331849	T	0.42513	0.97	4.43	1.23	0.21249	AMP-dependent synthetase/ligase (1);	0.373188	0.22389	N	0.060709	T	0.00012	0.0000	N	0.00113	-2.09	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	9	0.02654	T	1	-3.0733	9.1067	0.36703	0.1418:0.3348:0.5234:0.0	rs59025904	217	Q6NUN0	ACSM5_HUMAN	V	217	ENSP00000327916:M217V	ENSP00000327916:M217V	M	+	1	0	ACSM5	20340106	0.004000	0.15560	0.023000	0.16930	0.055000	0.15305	-0.147000	0.10234	-0.295000	0.08960	-2.208000	0.00301	ATG	A|0.875;G|0.125	0.125	strong		0.517	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		G	20432605	A	G	20432605	3	3	22	1	0	0	0	0	1	0	0	0	187	217	8	2	663	2	ACSM5	16	20432605	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1927	20432605	69922148	8147	13255										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20435262	20435262	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtggccttgaccgaatcTgacatcttctggaacacgac	11	11	3	2	rs12103211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20435262T>G	ENST00000331849.4	+	6	939	c.792T>G	c.(790-792)tcT>tcG	p.S264S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	264					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGACCGAATCTGACATCTTCT	0.473													G|||	765	0.152756	0.3646	0.0634	5008	,	,		20759	0.0615		0.0487	False		,,,				2504	0.1309				p.S264S		Atlas-SNP	.											.	ACSM5	101	.	0			c.T792G						PASS	.	G		1453,2953	681.4+/-404.0	239,975,989	196	183	187		792	-5.5	0.2	16	dbSNP_120	187	498,8102	796.9+/-407.5	14,470,3816	no	coding-synonymous	ACSM5	NM_017888.2		253,1445,4805	GG,GT,TT		5.7907,32.9778,15.0008		264/580	20435262	1951,11055	2203	4300	6503	SO:0001819	synonymous_variant	54988	exon6			CGAATCTGACATC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.792T>G	16.37:g.20435262T>G		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	176	176	1	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	CCDS10585.1																																																																																			T|0.853;G|0.147	0.147	strong		0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		G	20435262	T	G	20435262	2	3	22	1	0	0	0	0	0	0	0	1	187	1567	55	5		5	ACSM5	16	20435262	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2657	20435262	69919491	8148	13256										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20435314	20435314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtgaaggcagcctggactCtcttctctgcctggcctaat	12	12	2	1	rs73545426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20435314C>T	ENST00000331849.4	+	6	991	c.844C>T	c.(844-846)Ctc>Ttc	p.L282F		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	282					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGCCTGGACTCTCTTCTCTGC	0.493													C|||	329	0.0656949	0.171	0.0101	5008	,	,		19468	0.0466		0.0179	False		,,,				2504	0.0317				p.L282F		Atlas-SNP	.											.	ACSM5	101	.	0			c.C844T						PASS	.	C	PHE/LEU	616,3790	268.3+/-268.4	36,544,1623	172	150	157		844	2.5	1	16	dbSNP_131	157	179,8421	81.8+/-144.4	2,175,4123	no	missense	ACSM5	NM_017888.2	22	38,719,5746	TT,TC,CC		2.0814,13.9809,6.1126	benign	282/580	20435314	795,12211	2203	4300	6503	SO:0001583	missense	54988	exon6			TGGACTCTCTTCT		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.844C>T	16.37:g.20435314C>T	ENSP00000327916:p.Leu282Phe	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	151	77	0.509934	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	128	0.05860805860805861	75	0.1524390243902439	5	0.013812154696132596	33	0.057692307692307696	15	0.01978891820580475	C	10.50	1.368117	0.24771	0.139809	0.020814	ENSG00000183549	ENST00000331849	T	0.48836	0.8	4.56	2.45	0.29901	AMP-dependent synthetase/ligase (1);	0.703467	0.12754	N	0.441902	T	0.00178	0.0005	L	0.32530	0.975	0.38292	D	0.942747	B	0.16802	0.019	B	0.20955	0.032	T	0.20840	-1.0263	10	0.31617	T	0.26	-11.7114	2.5546	0.04756	0.1501:0.5145:0.1466:0.1889	.	282	Q6NUN0	ACSM5_HUMAN	F	282	ENSP00000327916:L282F	ENSP00000327916:L282F	L	+	1	0	ACSM5	20342815	0.001000	0.12720	0.989000	0.46669	0.989000	0.77384	-0.554000	0.06006	1.116000	0.41820	0.655000	0.94253	CTC	C|0.938;T|0.062	0.062	strong		0.493	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		T	20435314	C	T	20435314	3	4	22	1	0	0	0	0	1	0	0	0	187	913	32	2	862	2	ACSM5	16	20435314	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52	20435314	69919439	8149	13257										
ACSM2A	123876	hgsc.bcm.edu	37	chr16	20471487	20471487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaccctgtggggtactcaGatgtccagccgcactctcta	10	14	2	1	rs137947890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20471487G>C	ENST00000573854.1	+	2	165	c.51G>C	c.(49-51)caG>caC	p.Q17H	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q17H|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000424070.1_Missense_Mutation_p.Q17H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q17H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q17H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	17					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGGTACTCAGATGTCCAGCC	0.493													G|||	85	0.0169728	0.0635	0.0014	5008	,	,		18245	0.0		0.0	False		,,,				2504	0.0				p.Q17H		Atlas-SNP	.											.	ACSM2A	120	.	0			c.G51C						PASS	.	G	HIS/GLN	220,4186	133.7+/-170.0	8,204,1991	46	48	47		51	1	0	16	dbSNP_134	47	5,8589	4.3+/-15.6	0,5,4292	no	missense	ACSM2A	NM_001010845.2	24	8,209,6283	CC,CG,GG		0.0582,4.9932,1.7308	benign	17/578	20471487	225,12775	2203	4297	6500	SO:0001583	missense	123876	exon3			TACTCAGATGTCC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.51G>C	16.37:g.20471487G>C	ENSP00000459451:p.Gln17His	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	120	68	0.566667	NM_001010845	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	30	0.013736263736263736	29	0.05894308943089431	0	0.0	0	0.0	1	0.0013192612137203166	G	7.282	0.609329	0.14066	0.049932	5.82E-4	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.43688	0.94;2.24;0.94	3.28	1.03	0.20045	.	0.746597	0.11304	N	0.577908	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15407	-1.0438	10	0.14252	T	0.57	-4.0391	5.9796	0.19399	0.1217:0.1954:0.6829:0.0	.	17	Q08AH3	ACS2A_HUMAN	H	17	ENSP00000219054:Q17H;ENSP00000394904:Q17H;ENSP00000379411:Q17H	ENSP00000219054:Q17H	Q	+	3	2	ACSM2A	20378988	0.000000	0.05858	0.001000	0.08648	0.661000	0.39034	0.388000	0.20735	0.709000	0.31976	0.454000	0.30748	CAG	.	.	weak		0.493	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		C	20471487	G	C	20471487	3	2	22	1	0	0	0	0	1	0	0	0	183	933	33	4	53	4	ACSM2A	16	20471487	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36173	20471487	69883266	8150	13258										
ACSM2A	123876	hgsc.bcm.edu	37	chr16	20476974	20476974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggagcctgtggcctgcagCgtggggatcgtgtggcagtg	20	9	0	0	rs13332099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20476974C>T	ENST00000573854.1	+	3	427	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	ACSM2A_ENST00000417235.2_Missense_Mutation_p.R26C|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R105C|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.R105C|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R105C|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R105C	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	105					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R105G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGCCTGCAGCGTGGGGATCG	0.577													C|||	31	0.0061901	0.0212	0.0029	5008	,	,		20999	0.0		0.0	False		,,,				2504	0.001				p.R105C		Atlas-SNP	.											ACSM2A,NS,carcinoma,-2,1	ACSM2A	120	1	1	Substitution - Missense(1)	lung(1)	c.C313T						PASS	.	C	CYS/ARG	79,4327	68.1+/-105.8	1,77,2125	121	101	108		313	2.8	1	16	dbSNP_121	108	0,8600		0,0,4300	no	missense	ACSM2A	NM_001010845.2	180	1,77,6425	TT,TC,CC		0.0,1.793,0.6074	benign	105/578	20476974	79,12927	2203	4300	6503	SO:0001583	missense	123876	exon4			CTGCAGCGTGGGG	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.313C>T	16.37:g.20476974C>T	ENSP00000459451:p.Arg105Cys	Somatic	502	0	0		WXS	Illumina HiSeq	Phase_I	521	179	0.34357	NM_001010845	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	14	0.00641025641025641	13	0.026422764227642278	1	0.0027624309392265192	0	0.0	0	0.0	C	11.81	1.750666	0.31046	0.01793	0.0	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.76	2.79	0.32731	AMP-dependent synthetase/ligase (1);	0.189594	0.27262	N	0.020171	T	0.19967	0.0480	M	0.84326	2.69	0.30993	N	0.721168	P;P	0.37636	0.485;0.603	B;B	0.28916	0.096;0.096	T	0.46569	-0.9182	10	0.56958	D	0.05	-6.0087	6.554	0.22450	0.1772:0.7202:0.0:0.1026	rs13332099	26;105	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	C	26;105;105;105	ENSP00000392169:R26C;ENSP00000219054:R105C;ENSP00000394904:R105C;ENSP00000379411:R105C	ENSP00000219054:R105C	R	+	1	0	ACSM2A	20384475	0.515000	0.26210	0.989000	0.46669	0.734000	0.41952	1.158000	0.31737	0.694000	0.31654	0.298000	0.19748	CGT	C|0.993;T|0.007	0.007	strong		0.577	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20476974	C	T	20476974	3	4	22	1	0	0	0	0	1	0	0	0	183	768	27	1	319	1	ACSM2A	16	20476974	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5487	20476974	69877779	8151	13259										
ACSM2B	348158	hgsc.bcm.edu	37	chr16	20554582	20554582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgtcttgtcgggattTtcctggtgaccacagaaaga	12	9	1	3	rs142632912		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20554582T>G	ENST00000329697.6	-	11	1452	c.1284A>C	c.(1282-1284)gaA>gaC	p.E428D	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E428D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E428D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E349D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCGGGATTTTCCTGGTGAC	0.488																																					p.E428D		Atlas-SNP	.											ACSM2B,NS,carcinoma,-2,1	ACSM2B	121	1	0			c.A1284C						scavenged	.						80	137	118					16																	20554582		2089	4300	6389	SO:0001583	missense	348158	exon12			GGGATTTTCCTGG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1284A>C	16.37:g.20554582T>G	ENSP00000327453:p.Glu428Asp	Somatic	366	48	0.131148		WXS	Illumina HiSeq	Phase_I	257	110	0.428016	NM_182617	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	212	0.09706959706959707	104	0.21138211382113822	22	0.06077348066298342	25	0.043706293706293704	61	0.08047493403693931	G	0.003	-2.499652	0.00157	.	.	ENSG00000066813	ENST00000329697	T	0.47177	0.85	3.26	1.14	0.20703	AMP-dependent synthetase/ligase (1);	0.721394	0.11798	N	0.528403	T	0.00012	0.0000	N	0.02830	-0.485	0.21020	P	0.999801927	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22138	-1.0225	9	0.02654	T	1	-0.0081	2.4769	0.04578	0.333:0.0:0.2965:0.3705	.	428;428	A8K051;Q68CK6	.;ACS2B_HUMAN	D	428	ENSP00000327453:E428D	ENSP00000327453:E428D	E	-	3	2	ACSM2B	20462083	1.000000	0.71417	0.025000	0.17156	0.005000	0.04900	1.211000	0.32382	-0.079000	0.12707	-0.917000	0.02746	GAA	.	.	weak		0.488	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		G	20554582	T	G	20554582	3	3	22	1	0	0	0	0	1	0	0	0	184	1838	64	5	465	5	ACSM2B	16	20554582	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	77608	20554582	69800171	8152	13260										
ERI2	6296	hgsc.bcm.edu	37	chr16	20802172	20802172	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaagaaattgaagaaatacCcaaattcttgctgaagaaaa	6	6	1	5	rs2301770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20802172C>T	ENST00000289416.5	+	10	1801				ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000567387.1_Intron|ERI2_ENST00000300005.3_Splice_Site_p.G272D	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAAGAAATACCCAAATTCTTG	0.453													C|||	534	0.106629	0.1263	0.0663	5008	,	,		18274	0.1329		0.0755	False		,,,				2504	0.1135				p.G272D		Atlas-SNP	.											.	ERI2	50	.	0			c.G815A						PASS	.	C	,ASP/GLY	505,3897	232.0+/-245.7	31,443,1727	97	105	103		,815	-0.5	0	16	dbSNP_100	103	604,7996	158.9+/-212.3	20,564,3716	yes	intron,missense-near-splice	ACSM3,ERI2	NM_005622.3,NM_080663.2	,94	51,1007,5443	TT,TC,CC		7.0233,11.4721,8.5295	,	,272/329	20802172	1109,11893	2201	4300	6501	SO:0001627	intron_variant	112479	exon9			AAATACCCAAATT	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1326+162C>T	16.37:g.20802172C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	151	68	0.450331	NM_080663	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	242	0.1108058608058608	67	0.13617886178861788	31	0.0856353591160221	86	0.15034965034965034	58	0.07651715039577836	C	6.413	0.444309	0.12164	0.114721	0.070233	ENSG00000196678	ENST00000300005	.	.	.	2.61	-0.5	0.12012	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.80722	P	0.0	D	0.76494	0.999	D	0.74023	0.982	T	0.12372	-1.0550	5	.	.	.	.	5.237	0.15452	0.0:0.5657:0.0:0.4343	rs2301770;rs57708260;rs2301770	272	A8K979-4	.	D	272	.	.	G	-	2	0	ERI2	20709673	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.022000	0.03611	-0.080000	0.12685	0.455000	0.32223	GGC	C|0.906;T|0.094	0.094	strong		0.453	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		T	20802172	C	T	20802172	1	4	22	0	1	0	0	0	0	0	0	0	5228	637	22	2		2	ERI2	16	20802172	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	247590	20802172	69552581	8153	13261										
ERI2	112479	hgsc.bcm.edu	37	chr16	20809240	20809240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaacattttctgttttcttGgtatttcccgatagggcaac	7	9	2	0	rs61746707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20809240G>T	ENST00000357967.4	-	9	1924	c.1882C>A	c.(1882-1884)Caa>Aaa	p.Q628K	ERI2_ENST00000389345.5_Missense_Mutation_p.Q363K|ERI2_ENST00000563117.1_Missense_Mutation_p.Q535K|ERI2_ENST00000564349.1_Missense_Mutation_p.Q535K|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_3'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	628							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTGTTTTCTTGGTATTTCCCG	0.413													G|||	74	0.0147764	0.0545	0.0014	5008	,	,		17542	0.0		0.001	False		,,,				2504	0.0				p.Q628K		Atlas-SNP	.											.	ERI2	50	.	0			c.C1882A						PASS	.	G	LYS/GLN,	53,1331		1,51,640	115	94	100		1882,	3.4	1	16	dbSNP_129	100	0,3182		0,0,1591	no	missense,intron	ERI2	NM_001142725.1,NM_080663.2	53,	1,51,2231	TT,TG,GG		0.0,3.8295,1.1608	benign,	628/692,	20809240	53,4513	692	1591	2283	SO:0001583	missense	112479	exon9			TTTCTTGGTATTT	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1882C>A	16.37:g.20809240G>T	ENSP00000350651:p.Gln628Lys	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	248	114	0.459677	NM_001142725	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	28	0.01282051282051282	28	0.056910569105691054	0	0.0	0	0.0	0	0.0	G	9.624	1.134740	0.21123	0.038295	0.0	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.18338	2.26;2.22	5.57	3.44	0.39384	Zinc finger, GRF-type (1);	0.400221	0.26349	N	0.024900	T	0.01029	0.0034	N	0.25245	0.725	0.23204	N	0.99813	B	0.17465	0.022	B	0.15052	0.012	T	0.21586	-1.0241	10	0.33940	T	0.23	-3.6176	8.303	0.32025	0.0:0.2738:0.4857:0.2405	.	628	A8K979	ERI2_HUMAN	K	628;363	ENSP00000350651:Q628K;ENSP00000373996:Q363K	ENSP00000350651:Q628K	Q	-	1	0	ERI2	20716741	0.998000	0.40836	1.000000	0.80357	0.562000	0.35680	2.069000	0.41481	1.450000	0.47717	0.591000	0.81541	CAA	G|0.987;T|0.013	0.013	strong		0.413	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		T	20809240	G	T	20809240	3	4	22	1	0	0	0	0	1	0	0	0	5228	1357	47	4	464	4	ERI2	16	20809240	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7068	20809240	69545513	8154	13262										
DNAH3	55567	hgsc.bcm.edu	37	chr16	20996868	20996868	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggacatgggggccttgctgAtgttgttgaattcttccaga	14	7	1	3	rs34179606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:20996868A>T	ENST00000261383.3	-	48	7195	c.7196T>A	c.(7195-7197)aTc>aAc	p.I2399N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2399	AAA 4. {ECO:0000250}.		I -> N (in dbSNP:rs34179606).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCCTTGCTGATGTTGTTGAA	0.488													A|||	67	0.0133786	0.0507	0.0	5008	,	,		20170	0.0		0.0	False		,,,				2504	0.0				p.I2399N		Atlas-SNP	.											.	DNAH3	1142	.	0			c.T7196A						PASS	.	A	ASN/ILE	139,4263	98.9+/-137.6	2,135,2064	142	122	129		7196	4.8	1	16	dbSNP_126	129	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH3	NM_017539.1	149	2,138,6361	TT,TA,AA		0.0349,3.1577,1.0921	benign	2399/4117	20996868	142,12860	2201	4300	6501	SO:0001583	missense	55567	exon48			TTGCTGATGTTGT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7196T>A	16.37:g.20996868A>T	ENSP00000261383:p.Ile2399Asn	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	66	35	0.530303	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	A	12.96	2.093349	0.36952	0.031577	3.49E-4	ENSG00000158486	ENST00000261383	T	0.22945	1.93	4.79	4.79	0.61399	.	0.272346	0.29438	N	0.012143	T	0.06645	0.0170	L	0.48174	1.505	0.80722	D	1	P	0.39480	0.675	B	0.42343	0.384	T	0.00920	-1.1514	10	0.39692	T	0.17	.	10.7686	0.46308	0.9222:0.0:0.0778:0.0	rs34179606	2399	Q8TD57	DYH3_HUMAN	N	2399	ENSP00000261383:I2399N	ENSP00000261383:I2399N	I	-	2	0	DNAH3	20904369	0.994000	0.37717	0.975000	0.42487	0.937000	0.57800	2.961000	0.49168	1.930000	0.55929	0.533000	0.62120	ATC	A|0.989;T|0.011	0.011	strong		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20996868	A	T	20996868	3	4	22	1	0	0	0	0	1	0	0	0	4603	333	12	5	5213	5	DNAH3	16	20996868	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	187628	20996868	69357885	8155	13263										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21042391	21042391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattgtcatccagaacagtGttcatattttcaatccaaat	4	8	3	1	rs114086288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21042391G>A	ENST00000261383.3	-	37	5414	c.5415C>T	c.(5413-5415)aaC>aaT	p.N1805N	DNAH3_ENST00000415178.1_Silent_p.N1805N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1805	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGAACAGTGTTCATATTTT	0.378													G|||	55	0.0109824	0.0401	0.0014	5008	,	,		20518	0.0		0.001	False		,,,				2504	0.0				p.N1805N		Atlas-SNP	.											.	DNAH3	1142	.	0			c.C5415T						PASS	.	G		133,4269	96.7+/-135.4	3,127,2071	103	96	98		5415	4.7	1	16	dbSNP_132	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		3,128,6370	AA,AG,GG		0.0116,3.0214,1.0306		1805/4117	21042391	134,12868	2201	4300	6501	SO:0001819	synonymous_variant	55567	exon37			AACAGTGTTCATA	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5415C>T	16.37:g.21042391G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	103	55	0.533981	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																			G|0.989;A|0.011	0.011	strong		0.378	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21042391	G	A	21042391	2	1	22	1	0	0	0	0	0	0	0	1	4603	1368	48	2		2	DNAH3	16	21042391	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45523	21042391	69312362	8156	13264										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21049286	21049286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaggcggtaggtcgcaaCgatcttctgggcgagactag	15	10	2	1	rs16970832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21049286C>T	ENST00000261383.3	-	34	4746	c.4747G>A	c.(4747-4749)Gtt>Att	p.V1583I	DNAH3_ENST00000415178.1_Missense_Mutation_p.V1583I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1583	AAA 1. {ECO:0000250}.		V -> I (in dbSNP:rs16970832).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGGTCGCAACGATCTTCTGG	0.547													C|||	248	0.0495208	0.1808	0.0101	5008	,	,		21358	0.0		0.002	False		,,,				2504	0.0				p.V1583I		Atlas-SNP	.											.	DNAH3	1142	.	0			c.G4747A						PASS	.	C	ILE/VAL	675,3727	286.9+/-279.0	56,563,1582	88	66	74		4747	5.8	1	16	dbSNP_123	74	7,8593	3.7+/-12.6	0,7,4293	yes	missense	DNAH3	NM_017539.1	29	56,570,5875	TT,TC,CC		0.0814,15.3339,5.2453	probably-damaging	1583/4117	21049286	682,12320	2201	4300	6501	SO:0001583	missense	55567	exon34			TCGCAACGATCTT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4747G>A	16.37:g.21049286C>T	ENSP00000261383:p.Val1583Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	96	60	0.625	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	79	0.036172161172161175	77	0.1565040650406504	2	0.0055248618784530384	0	0.0	0	0.0	C	32	5.164216	0.94727	0.153339	8.14E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.06608	3.28;3.28	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.00109	0.0003	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00076	-1.2118	10	0.36615	T	0.2	.	19.9616	0.97254	0.0:1.0:0.0:0.0	rs16970832;rs56565035;rs16970832	1583	Q8TD57	DYH3_HUMAN	I	1583	ENSP00000261383:V1583I;ENSP00000394245:V1583I	ENSP00000261383:V1583I	V	-	1	0	DNAH3	20956787	1.000000	0.71417	0.998000	0.56505	0.731000	0.41821	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	GTT	C|0.944;T|0.056	0.056	strong		0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21049286	C	T	21049286	3	4	22	1	0	0	0	0	1	0	0	0	4603	536	19	1	7718	1	DNAH3	16	21049286	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6895	21049286	69305467	8157	13265										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21051209	21051209	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccccatggagtagagggaGatttctccaatgagggcgta	13	8	1	3	rs330150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21051209G>C	ENST00000261383.3	-	33	4694	c.4695C>G	c.(4693-4695)atC>atG	p.I1565M	DNAH3_ENST00000415178.1_Missense_Mutation_p.I1565M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1565	AAA 1. {ECO:0000250}.		I -> M (in dbSNP:rs330150).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I1565M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAGAGGGAGATTTCTCCAA	0.478													G|||	670	0.133786	0.2247	0.0749	5008	,	,		22218	0.1409		0.1103	False		,,,				2504	0.0695				p.I1565M		Atlas-SNP	.											DNAH3_ENST00000261383,NS,carcinoma,0,2	DNAH3	1142	2	2	Substitution - Missense(2)	stomach(2)	c.C4695G						PASS	.	G	MET/ILE	875,3527	343.3+/-307.6	90,695,1416	138	130	133		4695	2.3	1	16	dbSNP_79	133	868,7732	196.9+/-241.7	42,784,3474	yes	missense	DNAH3	NM_017539.1	10	132,1479,4890	CC,CG,GG		10.093,19.8773,13.4056	probably-damaging	1565/4117	21051209	1743,11259	2201	4300	6501	SO:0001583	missense	55567	exon33			GAGGGAGATTTCT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4695C>G	16.37:g.21051209G>C	ENSP00000261383:p.Ile1565Met	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	146	71	0.486301	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	327	0.14972527472527472	130	0.26422764227642276	31	0.0856353591160221	89	0.1555944055944056	77	0.10158311345646438	G	17.38	3.374222	0.61735	0.198773	0.10093	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.57107	0.42;0.42	5.48	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	H	0.95470	3.675	0.09310	P	0.99999932496	D	0.89917	1.0	D	0.97110	1.0	T	0.06917	-1.0800	9	0.87932	D	0	.	5.0246	0.14378	0.2757:0.0:0.511:0.2132	rs330150;rs52802211;rs330150	1565	Q8TD57	DYH3_HUMAN	M	1565	ENSP00000261383:I1565M;ENSP00000394245:I1565M	ENSP00000261383:I1565M	I	-	3	3	DNAH3	20958710	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.457000	0.21875	0.787000	0.33731	0.650000	0.86243	ATC	G|0.853;C|0.146	0.146	strong		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21051209	G	C	21051209	3	2	22	1	0	0	0	0	1	0	0	0	4603	932	33	4	7774	4	DNAH3	16	21051209	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1923	21051209	69303544	8158	13266										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21078693	21078693	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcttcttgaagcttctcTgccatccgtggctggtcggc	12	12	2	1	rs861424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21078693T>A	ENST00000261383.3	-	24	3428	c.3429A>T	c.(3427-3429)gcA>gcT	p.A1143A	DNAH3_ENST00000415178.1_Silent_p.A1143A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1143	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGCTTCTCTGCCATCCGTG	0.468													G|||	115	0.0229633	0.0817	0.0086	5008	,	,		17763	0.0		0.0	False		,,,				2504	0.001				p.A1143A		Atlas-SNP	.											.	DNAH3	1142	.	0			c.A3429T						PASS	.						85	86	86					16																	21078693		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon24			CTTCTCTGCCATC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3429A>T	16.37:g.21078693T>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	106	54	0.509434	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																			G|0.438;T|0.562	.	strong		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21078693	T	A	21078693	2	1	22	1	0	0	0	0	0	0	0	1	4603	1567	55	5		5	DNAH3	16	21078693	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27484	21078693	69276060	8159	13267										
ZP2	7783	hgsc.bcm.edu	37	chr16	21217061	21217061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcttcataccttactgtcGtcagccaagccagagaagac	8	12	2	2	rs16971234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21217061G>A	ENST00000574002.1	-	7	1001	c.519C>T	c.(517-519)gaC>gaT	p.D173D	ZP2_ENST00000574091.1_Silent_p.D173D|ZP2_ENST00000219593.4_Silent_p.D173D|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	173		Cleavage. {ECO:0000250}.			binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTTACTGTCGTCAGCCAAGC	0.358													G|||	1418	0.283147	0.3654	0.2378	5008	,	,		23231	0.4157		0.1074	False		,,,				2504	0.2485				p.D173D		Atlas-SNP	.											.	ZP2	92	.	0			c.C519T						PASS	.	G		1448,2950	467.6+/-354.9	239,970,990	92	97	95		519	-6.1	0	16	dbSNP_123	95	1020,7580	217.4+/-256.1	62,896,3342	no	coding-synonymous	ZP2	NM_003460.1		301,1866,4332	AA,AG,GG		11.8605,32.9241,18.9875		173/746	21217061	2468,10530	2199	4300	6499	SO:0001819	synonymous_variant	7783	exon6			ACTGTCGTCAGCC	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.519C>T	16.37:g.21217061G>A		Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	118	116	0.983051	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																			G|0.763;A|0.237	0.237	strong		0.358	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21217061	G	A	21217061	2	1	22	1	0	0	0	0	0	0	0	1	18213	1136	40	1		1	ZP2	16	21217061	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	138368	21217061	69137692	8160	13268										
ZP2	7783	hgsc.bcm.edu	37	chr16	21222672	21222672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaaacatctatggagttcCctgaagtcacaagggcgaag	12	8	2	2	rs2075520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:21222672C>A	ENST00000574002.1	-	3	589	c.107G>T	c.(106-108)gGg>gTg	p.G36V	ZP2_ENST00000574091.1_Missense_Mutation_p.G36V|ZP2_ENST00000219593.4_Missense_Mutation_p.G36V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	36			G -> V (in dbSNP:rs2075520). {ECO:0000269|PubMed:15489334}.		binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TATGGAGTTCCCTGAAGTCAC	0.453													A|||	2244	0.448083	0.6717	0.4524	5008	,	,		22005	0.4444		0.2555	False		,,,				2504	0.3446				p.G36V		Atlas-SNP	.											.	ZP2	92	.	0			c.G107T						PASS	.	A	VAL/GLY	2677,1721	516.7+/-369.2	831,1015,353	143	142	142		107	2.4	0.4	16	dbSNP_96	142	2398,6202	700.3+/-405.1	332,1734,2234	yes	missense	ZP2	NM_003460.1	109	1163,2749,2587	AA,AC,CC		27.8837,39.1314,39.0445	benign	36/746	21222672	5075,7923	2199	4300	6499	SO:0001583	missense	7783	exon2			GAGTTCCCTGAAG	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.107G>T	16.37:g.21222672C>A	ENSP00000460971:p.Gly36Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	75	75	1	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	918	0.42032967032967034	319	0.6483739837398373	129	0.356353591160221	263	0.4597902097902098	207	0.27308707124010556	A	0.005	-2.221557	0.00283	0.608686	0.278837	ENSG00000103310	ENST00000219593	T	0.21361	2.01	4.73	2.42	0.29668	.	0.617242	0.15139	N	0.278368	T	0.00012	0.0000	N	0.00049	-2.42	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40739	-0.9547	9	0.02654	T	1	-3.0493	5.3241	0.15896	0.5579:0.3491:0.093:0.0	rs2075520;rs59742566;rs2075520	36;36;36	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	V	36	ENSP00000219593:G36V	ENSP00000219593:G36V	G	-	2	0	ZP2	21130173	0.012000	0.17670	0.414000	0.26521	0.204000	0.24138	0.668000	0.25127	0.059000	0.16252	-0.256000	0.11100	GGG	C|0.593;A|0.407	0.407	strong		0.453	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21222672	C	A	21222672	3	1	22	1	0	0	0	0	1	0	0	0	18213	623	22	4	2202	4	ZP2	16	21222672	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5611	21222672	69132081	8161	13269										
VWA3A	146177	hgsc.bcm.edu	37	chr16	22137603	22137603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagttatccaacaaggactGtttcaacctcatcgcgtatg	8	11	2	0	rs55732851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:22137603G>A	ENST00000389398.5	+	17	1733	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	546	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AACAAGGACTGTTTCAACCTC	0.537													g|||	466	0.0930511	0.1914	0.0793	5008	,	,		17791	0.0506		0.0626	False		,,,				2504	0.045				p.C546Y		Atlas-SNP	.											.	VWA3A	115	.	0			c.G1637A						PASS	.	G	TYR/CYS	671,3365		57,557,1404	111	112	112		1637	-9.9	0	16	dbSNP_129	112	640,7712		27,586,3563	yes	missense	VWA3A	NM_173615.3	194	84,1143,4967	AA,AG,GG		7.6628,16.6254,10.5828	benign	546/1185	22137603	1311,11077	2018	4176	6194	SO:0001583	missense	146177	exon17			AGGACTGTTTCAA	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1637G>A	16.37:g.22137603G>A	ENSP00000374049:p.Cys546Tyr	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	144	67	0.465278	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	210	0.09615384615384616	112	0.22764227642276422	32	0.08839779005524862	20	0.03496503496503497	46	0.06068601583113457	g	0.004	-2.287083	0.00248	0.166254	0.076628	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.20881	2.04	4.97	-9.94	0.00449	.	1.202480	0.05532	N	0.564148	T	0.00012	0.0000	N	0.13043	0.29	0.31162	P	0.704214	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30621	-0.9972	9	0.02654	T	1	.	0.4202	0.00455	0.2611:0.259:0.242:0.2379	rs55732851	546;170	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	Y	546;169	ENSP00000374049:C546Y	ENSP00000299840:C169Y	C	+	2	0	VWA3A	22045104	0.002000	0.14202	0.033000	0.17914	0.491000	0.33493	-1.206000	0.03011	-2.453000	0.00541	-2.230000	0.00291	TGT	G|0.908;A|0.092	0.092	strong		0.537	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			A	22137603	G	A	22137603	3	1	22	1	0	0	0	0	1	0	0	0	17237	1377	48	2	1703	2	VWA3A	16	22137603	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	914931	22137603	68217150	8162	13270										
VWA3A	146177	hgsc.bcm.edu	37	chr16	22155629	22155629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccagatgcatgggtcccaActgcactcatcaaaagtcag	8	12	3	1	rs9937453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:22155629A>G	ENST00000389398.5	+	26	2750	c.2654A>G	c.(2653-2655)aAc>aGc	p.N885S	VWA3A_ENST00000563755.1_5'Flank|VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	885				N -> S (in Ref. 5; AAH38400). {ECO:0000305}.		extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATGGGTCCCAACTGCACTCAT	0.433													A|||	1862	0.371805	0.5318	0.1542	5008	,	,		19171	0.5982		0.16	False		,,,				2504	0.2945				p.N885S		Atlas-SNP	.											VWA3A_ENST00000389398,NS,carcinoma,-1,2	VWA3A	115	2	0			c.A2654G						PASS	.	A	SER/ASN	1748,2264		396,956,654	75	77	76		2654	-1.4	0.7	16	dbSNP_119	76	1431,6933		135,1161,2886	yes	missense	VWA3A	NM_173615.3	46	531,2117,3540	GG,GA,AA		17.109,43.5693,25.6868	benign	885/1185	22155629	3179,9197	2006	4182	6188	SO:0001583	missense	146177	exon26			GTCCCAACTGCAC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2654A>G	16.37:g.22155629A>G	ENSP00000374049:p.Asn885Ser	Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	299	149	0.498328	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	788	0.3608058608058608	279	0.5670731707317073	53	0.1464088397790055	332	0.5804195804195804	124	0.16358839050131926	A	9.133	1.011929	0.19277	0.435693	0.17109	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.11930	2.73	5.05	-1.42	0.08913	.	1.091720	0.06781	N	0.785336	T	0.00012	0.0000	L	0.28192	0.835	0.09310	P	0.999999418883	B	0.13145	0.007	B	0.04013	0.001	T	0.43605	-0.9381	9	0.11485	T	0.65	.	9.7499	0.40470	0.539:0.0:0.461:0.0	rs9937453;rs52819722;rs61173829;rs9937453	885	A6NCI4	VWA3A_HUMAN	S	885;508	ENSP00000374049:N885S	ENSP00000299840:N508S	N	+	2	0	VWA3A	22063130	0.027000	0.19231	0.684000	0.30055	0.693000	0.40251	0.517000	0.22832	-0.488000	0.06726	-0.376000	0.06991	AAC	A|0.627;G|0.373	0.373	strong		0.433	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			G	22155629	A	G	22155629	3	3	22	1	0	0	0	0	1	0	0	0	17237	43	2	2	2756	2	VWA3A	16	22155629	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18026	22155629	68199124	8163	13271										
HS3ST2	9956	hgsc.bcm.edu	37	chr16	22826321	22826321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggggggcacccgggccgtGctggagtttatccgagtaca	16	10	0	0	rs111703383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:22826321G>A	ENST00000261374.3	+	1	824	c.390G>A	c.(388-390)gtG>gtA	p.V130V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	130					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCCGGGCCGTGCTGGAGTTTA	0.637													G|||	271	0.0541134	0.1959	0.0173	5008	,	,		13590	0.0		0.0	False		,,,				2504	0.0				p.V130V		Atlas-SNP	.											.	HS3ST2	59	.	0			c.G390A						PASS	.	G		724,3626		47,630,1498	15	19	17		390	4.1	1	16	dbSNP_132	17	4,8560		0,4,4278	no	coding-synonymous	HS3ST2	NM_006043.1		47,634,5776	AA,AG,GG		0.0467,16.6437,5.6373		130/368	22826321	728,12186	2175	4282	6457	SO:0001819	synonymous_variant	9956	exon1			GGCCGTGCTGGAG	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.390G>A	16.37:g.22826321G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_006043	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																			G|0.949;A|0.051	0.051	strong		0.637	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22826321	G	A	22826321	2	1	22	1	0	0	0	0	0	0	0	1	7364	1306	46	2		2	HS3ST2	16	22826321	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	670692	22826321	67528432	8164	13272										
HS3ST2	9956	hgsc.bcm.edu	37	chr16	22926511	22926511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcctggtggacgtgtcAtggaacgccatccgcatcgg	15	12	1	0	rs35682499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:22926511A>G	ENST00000261374.3	+	2	1166	c.732A>G	c.(730-732)tcA>tcG	p.S244S		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	244					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.S244S(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGGACGTGTCATGGAACGCCA	0.597													G|||	622	0.124201	0.2738	0.134	5008	,	,		18157	0.001		0.1252	False		,,,				2504	0.0409				p.S244S		Atlas-SNP	.											HS3ST2,NS,NS,0,1	HS3ST2	59	1	1	Substitution - coding silent(1)	pancreas(1)	c.A732G						PASS	.	G		1204,3190	706.4+/-407.4	160,884,1153	119	104	109		732	-10.4	0.4	16	dbSNP_126	109	1137,7463	766.5+/-407.6	75,987,3238	no	coding-synonymous	HS3ST2	NM_006043.1		235,1871,4391	GG,GA,AA		13.2209,27.401,18.016		244/368	22926511	2341,10653	2197	4300	6497	SO:0001819	synonymous_variant	9956	exon2			CGTGTCATGGAAC	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.732A>G	16.37:g.22926511A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	134	68	0.507463	NM_006043	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																			A|0.834;G|0.166	0.166	strong		0.597	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		G	22926511	A	G	22926511	2	3	22	1	0	0	0	0	0	0	0	1	7364	204	8	2		2	HS3ST2	16	22926511	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	100190	22926511	67428242	8165	13273										
USP31	57478	hgsc.bcm.edu	37	chr16	23080634	23080634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagccttgtgctcacggCgactatgactgtcgcttggt	11	13	1	1	rs10083789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:23080634C>A	ENST00000219689.7	-	16	2791	c.2792G>T	c.(2791-2793)cGc>cTc	p.R931L	USP31_ENST00000567975.1_Missense_Mutation_p.R224L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGCTCACGGCGACTATGACT	0.547													C|||	729	0.145567	0.1157	0.1873	5008	,	,		18828	0.0546		0.3042	False		,,,				2504	0.0869				p.R931L		Atlas-SNP	.											.	USP31	122	.	0			c.G2792T						PASS	.	C	LEU/ARG	674,3720	286.3+/-278.7	54,566,1577	74	75	75		2792	5.1	0.2	16	dbSNP_119	75	2656,5944	427.5+/-355.6	416,1824,2060	yes	missense	USP31	NM_020718.3	102	470,2390,3637	AA,AC,CC		30.8837,15.3391,25.6272	probably-damaging	931/1353	23080634	3330,9664	2197	4300	6497	SO:0001583	missense	57478	exon16			TCACGGCGACTAT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2792G>T	16.37:g.23080634C>A	ENSP00000219689:p.Arg931Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	71	29	0.408451	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	399	0.18269230769230768	61	0.12398373983739837	78	0.2154696132596685	32	0.055944055944055944	228	0.3007915567282322	C	15.34	2.805061	0.50315	0.153391	0.308837	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09723	2.95	6.02	5.07	0.68467	.	0.425160	0.19991	N	0.101577	T	0.00012	0.0000	L	0.50333	1.59	0.51233	P	8.799999999997699E-5	D;D	0.58268	0.977;0.982	P;P	0.52159	0.691;0.518	T	0.54443	-0.8293	9	0.22706	T	0.39	-6.8887	14.4891	0.67639	0.0:0.93:0.0:0.07	rs10083789;rs17345123;rs17796446;rs61275052;rs10083789	234;931	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	L	931;234	ENSP00000219689:R931L	ENSP00000219689:R931L	R	-	2	0	USP31	22988135	0.918000	0.31147	0.173000	0.22940	0.975000	0.68041	1.836000	0.39191	1.557000	0.49525	0.650000	0.86243	CGC	C|0.785;A|0.215	0.215	strong		0.547	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		A	23080634	C	A	23080634	3	1	22	1	0	0	0	0	1	0	0	0	17059	768	27	4	1270	4	USP31	16	23080634	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	154123	23080634	67274119	8166	13274										
SCNN1B	6338	hgsc.bcm.edu	37	chr16	23379279	23379279	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaaccctggaactgaattCggtgagttttggtttatcgt	11	8	0	2	rs250563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:23379279C>T	ENST00000343070.2	+	5	1055	c.879C>T	c.(877-879)ttC>ttT	p.F293F	SCNN1B_ENST00000568923.1_Splice_Site_p.F266F|SCNN1B_ENST00000568085.1_Splice_Site_p.F293F|SCNN1B_ENST00000307331.5_Splice_Site_p.F338F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	293					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAACTGAATTCGGTGAGTTTT	0.522													C|||	425	0.0848642	0.2504	0.0447	5008	,	,		21131	0.0		0.0616	False		,,,				2504	0.001				p.F293F		Atlas-SNP	.											.	SCNN1B	81	.	0			c.C879T						PASS	.	C		915,3479	351.8+/-311.4	80,755,1362	177	134	148		879	-7.9	0.2	16	dbSNP_79	148	446,8154	134.3+/-191.7	10,426,3864	yes	coding-synonymous-near-splice	SCNN1B	NM_000336.2		90,1181,5226	TT,TC,CC		5.186,20.8239,10.4741		293/641	23379279	1361,11633	2197	4300	6497	SO:0001630	splice_region_variant	6338	exon5			TGAATTCGGTGAG	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.880+1C>T	16.37:g.23379279C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	155	81	0.522581	NM_000336	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	CCDS10609.1																																																																																			C|0.894;T|0.106	0.106	strong		0.522	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Silent	T	23379279	C	T	23379279	5	4	22	1	0	0	0	0	0	0	1	0	13928	898	31	1	893	1	SCNN1B	16	23379279	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	298645	23379279	66975474	8167	13275										
COG7	91949	hgsc.bcm.edu	37	chr16	23403744	23403744	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagagtgtgggctcagctcAgggatctgtaggatcgcatc	15	9	3	1	rs8057712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:23403744A>G	ENST00000307149.5	-	16	2288	c.2103T>C	c.(2101-2103)ccT>ccC	p.P701P	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	701					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGCTCAGCTCAGGGATCTGTA	0.597													G|||	540	0.107827	0.2625	0.1268	5008	,	,		18783	0.0169		0.0258	False		,,,				2504	0.0634				p.P701P		Atlas-SNP	.											COG7,NS,malignant_melanoma,-2,1	COG7	62	1	0			c.T2103C						PASS	.	G		947,3447	733.6+/-410.5	98,751,1348	107	92	97		2103	-11	0.3	16	dbSNP_116	97	254,8346	807.9+/-407.2	4,246,4050	no	coding-synonymous	COG7	NM_153603.3		102,997,5398	GG,GA,AA		2.9535,21.5521,9.2427		701/771	23403744	1201,11793	2197	4300	6497	SO:0001819	synonymous_variant	91949	exon16			CAGCTCAGGGATC	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2103T>C	16.37:g.23403744A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	132	59	0.44697	NM_153603	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																			A|0.910;G|0.090	0.090	strong		0.597	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			G	23403744	A	G	23403744	2	3	22	1	0	0	0	0	0	0	0	1	3663	175	7	3		3	COG7	16	23403744	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24465	23403744	66951009	8168	13276										
COG7	91949	hgsc.bcm.edu	37	chr16	23409440	23409440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtttctccgatgccagccGtattccagctctaagggtgg	13	11	2	0	rs16940094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:23409440G>A	ENST00000307149.5	-	14	1999	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	605			T -> M (in dbSNP:rs16940094).		intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GATGCCAGCCGTATTCCAGCT	0.532													G|||	441	0.0880591	0.1861	0.1239	5008	,	,		19099	0.0169		0.0258	False		,,,				2504	0.0675				p.T605M		Atlas-SNP	.											.	COG7	62	.	0			c.C1814T						PASS	.	G	MET/THR	681,3713	286.9+/-279.0	50,581,1566	122	98	106		1814	3.7	0.7	16	dbSNP_123	106	257,8343	101.4+/-162.7	4,249,4047	yes	missense	COG7	NM_153603.3	81	54,830,5613	AA,AG,GG		2.9884,15.4984,7.2187	possibly-damaging	605/771	23409440	938,12056	2197	4300	6497	SO:0001583	missense	91949	exon14			CCAGCCGTATTCC	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1814C>T	16.37:g.23409440G>A	ENSP00000305442:p.Thr605Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	150	87	0.58	NM_153603	Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	136	0.06227106227106227	79	0.16056910569105692	28	0.07734806629834254	11	0.019230769230769232	18	0.023746701846965697	G	13.05	2.121490	0.37436	0.154984	0.029884	ENSG00000168434	ENST00000307149	T	0.44881	0.91	5.6	3.67	0.42095	.	0.270197	0.42682	N	0.000671	T	0.00178	0.0005	N	0.24115	0.695	0.34894	P	0.254186	D	0.57571	0.98	P	0.52109	0.69	T	0.05632	-1.0873	9	0.42905	T	0.14	-15.5303	10.0248	0.42066	0.1547:0.0:0.8453:0.0	rs16940094;rs16940094	605	P83436	COG7_HUMAN	M	605	ENSP00000305442:T605M	ENSP00000305442:T605M	T	-	2	0	COG7	23316941	1.000000	0.71417	0.745000	0.31077	0.194000	0.23727	5.583000	0.67484	0.747000	0.32809	-0.742000	0.03525	ACG	G|0.931;A|0.069	0.069	strong		0.532	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			A	23409440	G	A	23409440	3	1	22	1	0	0	0	0	1	0	0	0	3663	1145	40	1	514	1	COG7	16	23409440	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5696	23409440	66945313	8169	13277										
ERN2	10595	hgsc.bcm.edu	37	chr16	23721865	23721865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacattggtccttcgatgaCgggatctgcagggacaggga	15	8	1	1	rs9932495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:23721865C>T	ENST00000457008.2	-	3	243	c.205G>A	c.(205-207)Gtc>Atc	p.V69I	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.V117I					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTTCGATGACGGGATCTGCA	0.507													C|||	104	0.0207668	0.0756	0.0014	5008	,	,		21483	0.0		0.001	False		,,,				2504	0.002				p.V117I		Atlas-SNP	.											.	ERN2	131	.	0			c.G349A						PASS	.	C	ILE/VAL	242,4152	141.1+/-176.5	7,228,1962	206	200	202		349	-3.1	0.4	16	dbSNP_119	202	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ERN2	NM_033266.3	29	7,229,6261	TT,TC,CC		0.0116,5.5075,1.8701	benign	117/975	23721865	243,12751	2197	4300	6497	SO:0001583	missense	10595	exon3			CGATGACGGGATC	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.205G>A	16.37:g.23721865C>T	ENSP00000413812:p.Val69Ile	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	5.726	0.318420	0.10845	0.055075	1.16E-4	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.21361	2.01;2.01	4.91	-3.07	0.05363	.	0.439897	0.27147	N	0.020713	T	0.00724	0.0024	N	0.05574	-0.02	0.25356	N	0.988828	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.28073	-1.0055	10	0.19147	T	0.46	.	6.6045	0.22718	0.0:0.4318:0.2707:0.2975	rs9932495;rs52791098;rs9932495	69;69	E7ETG2;A5YM65	.;.	I	117;69	ENSP00000256797:V117I;ENSP00000413812:V69I	ENSP00000256797:V117I	V	-	1	0	ERN2	23629366	0.991000	0.36638	0.383000	0.26132	0.543000	0.35085	0.246000	0.18160	-0.855000	0.04125	-0.379000	0.06801	GTC	C|0.981;T|0.019	0.019	strong		0.507	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23721865	C	T	23721865	3	4	22	1	0	0	0	0	1	0	0	0	5238	536	19	1	2655	1	ERN2	16	23721865	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	312425	23721865	66632888	8170	13278										
TNRC6A	27327	hgsc.bcm.edu	37	chr16	24788401	24788402	+	In_Frame_Ins	INS	-	-	GCA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagcaacagcagcagccINSgcagcagcagcagccacagc					rs112426081|rs575176088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24788401_24788402insGCA	ENST00000395799.3	+	5	440_441	c.311_312insGCA	c.(310-315)ccgcag>ccGCAgcag	p.108_109insQ	TNRC6A_ENST00000315183.7_In_Frame_Ins_p.108_109insQ	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	108	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagcagcagccgcagcagcagc	0.589														11	0.00219649	0.0083	0.0	5008	,	,		10840	0.0		0.0	False		,,,				2504	0.0				p.P104delinsPQ		Atlas-Indel	.											TNRC6A,NS,carcinoma,0,1	TNRC6A	171	1	0			c.311_312insGCA						PASS	.			43,3543		6,31,1756						-2.9	0		dbSNP_132	22	8,7216		1,6,3605	no	coding	TNRC6A	NM_014494.2		7,37,5361	A1A1,A1R,RR		0.1107,1.1991,0.4718				51,10759				SO:0001652	inframe_insertion	27327	exon5			.	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.321_323dupGCA	16.37:g.24788408_24788410dupGCA	ENSP00000379144:p.Gln111_Gln112dup	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	55	11	0.2	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	In_Frame_Ins	INS	ENST00000395799.3	37	CCDS10624.2																																																																																			-|0.500;GCA|0.500	0.500	weak		0.589	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		GCA	24788402	-	GCA	24788401	7	5	22	1	0	1	1	0	0	0	0	0	16337	652	23	0	329	0	TNRC6A	16	24788401	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1066536	24788401	65566352	8171	13279										
TNRC6A	27327	hgsc.bcm.edu	37	chr16	24802204	24802204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggggaacgaaagactgaCaatgggacagaggcctgggg	18	6	0	4	rs113288384		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24802204C>T	ENST00000395799.3	+	6	2370	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D	TNRC6A_ENST00000315183.7_Silent_p.D747D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	747	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAAAGACTGACAATGGGACAG	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.0				p.D747D		Atlas-SNP	.											.	TNRC6A	171	.	0			c.C2241T						PASS	.	C		2,4392	4.2+/-10.8	0,2,2195	53	55	55		2241	3.9	1	16	dbSNP_132	55	0,8600		0,0,4300	no	coding-synonymous	TNRC6A	NM_014494.2		0,2,6495	TT,TC,CC		0.0,0.0455,0.0154		747/1963	24802204	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	27327	exon6			GACTGACAATGGG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2241C>T	16.37:g.24802204C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	52	26	0.5	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2																																																																																			C|0.999;T|0.001	0.001	strong		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24802204	C	T	24802204	2	4	22	1	0	0	0	0	0	0	0	1	16337	477	17	2		2	TNRC6A	16	24802204	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13803	24802204	65552549	8172	13280										
TNRC6A	27327	hgsc.bcm.edu	37	chr16	24802245	24802245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctctgcaacacagacttTtaactcaggggcatgtatag	9	9	2	1	rs112027699		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24802245T>G	ENST00000395799.3	+	6	2411	c.2282T>G	c.(2281-2283)tTt>tGt	p.F761C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.F761C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	761	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACACAGACTTTTAACTCAGGG	0.488													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19808	0.0		0.0	False		,,,				2504	0.0				p.F761C		Atlas-SNP	.											.	TNRC6A	171	.	0			c.T2282G						PASS	.	T	CYS/PHE	2,4390	2.1+/-5.4	0,2,2194	46	51	50		2282	4.7	1	16	dbSNP_132	50	0,8600		0,0,4300	no	missense	TNRC6A	NM_014494.2	205	0,2,6494	GG,GT,TT		0.0,0.0455,0.0154	benign	761/1963	24802245	2,12990	2196	4300	6496	SO:0001583	missense	27327	exon6			AGACTTTTAACTC	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2282T>G	16.37:g.24802245T>G	ENSP00000379144:p.Phe761Cys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	50	24	0.48	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	T	9.930	1.214512	0.22289	4.55E-4	0.0	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11495	2.77;2.78	5.82	4.71	0.59529	.	0.329999	0.31859	N	0.006945	T	0.05410	0.0143	N	0.08118	0	0.80722	D	1	P;P;P	0.45078	0.687;0.681;0.85	B;B;B	0.42282	0.382;0.181;0.258	T	0.24440	-1.0160	10	0.56958	D	0.05	-1.2962	3.6846	0.08323	0.0:0.2795:0.0:0.7205	.	508;761;761	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	C	761	ENSP00000326900:F761C;ENSP00000379144:F761C	ENSP00000326900:F761C	F	+	2	0	TNRC6A	24709746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.281000	0.33214	2.225000	0.72522	0.460000	0.39030	TTT	T|0.999;G|0.001	0.001	strong		0.488	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24802245	T	G	24802245	3	3	22	1	0	0	0	0	1	0	0	0	16337	1841	64	5	2304	5	TNRC6A	16	24802245	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41	24802245	65552508	8173	13281										
SLC5A11	115584	hgsc.bcm.edu	37	chr16	24888593	24888593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacaggtagacatgtatgcAggtgccatcttcatccagca	9	11	3	1	rs8052587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24888593A>G	ENST00000347898.3	+	7	1114	c.492A>G	c.(490-492)gcA>gcG	p.A164A	SLC5A11_ENST00000569071.1_Silent_p.A100A|SLC5A11_ENST00000424767.2_Silent_p.A129A|SLC5A11_ENST00000568579.1_Silent_p.A94A|SLC5A11_ENST00000449109.2_Silent_p.A100A|SLC5A11_ENST00000565769.1_Silent_p.A100A|SLC5A11_ENST00000567758.1_Silent_p.A129A|SLC5A11_ENST00000545376.1_Silent_p.A94A|SLC5A11_ENST00000539472.1_Silent_p.A100A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ACATGTATGCAGGTGCCATCT	0.488													A|||	695	0.138778	0.23	0.0965	5008	,	,		23254	0.0		0.1531	False		,,,				2504	0.1738				p.A164A		Atlas-SNP	.											.	SLC5A11	97	.	0			c.A492G						PASS	.	A		895,3499	347.5+/-309.5	92,711,1394	396	330	352		492	-3.7	0.9	16	dbSNP_116	352	1226,7374	247.4+/-275.4	86,1054,3160	no	coding-synonymous	SLC5A11	NM_052944.2		178,1765,4554	GG,GA,AA		14.2558,20.3687,16.3229		164/676	24888593	2121,10873	2197	4300	6497	SO:0001819	synonymous_variant	115584	exon7			GTATGCAGGTGCC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.492A>G	16.37:g.24888593A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	239	115	0.481172	NM_052944		Silent	SNP	ENST00000347898.3	37	CCDS10625.1																																																																																			A|0.850;G|0.150	0.150	strong		0.488	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		G	24888593	A	G	24888593	2	3	22	1	0	0	0	0	0	0	0	1	14663	175	7	3		3	SLC5A11	16	24888593	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86348	24888593	65466160	8174	13282										
ARHGAP17	55114	hgsc.bcm.edu	37	chr16	24942272	24942272	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctgtgcagtttcagggTtaccccctgccagggtctga	14	11	2	1	rs111463480	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24942272T>A	ENST00000289968.6	-	19	2417	c.2348A>T	c.(2347-2349)aAc>aTc	p.N783I	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.N705I|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	783	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGTTTCAGGGTTACCCCCTGC	0.632													T|||	3	0.000599042	0.0023	0.0	5008	,	,		14279	0.0		0.0	False		,,,				2504	0.0				p.N783I		Atlas-SNP	.											.	ARHGAP17	138	.	0			c.A2348T						PASS	.	T	ILE/ASN,ILE/ASN	1,4393	2.1+/-5.4	0,1,2196	71	80	77		2348,2114	5.1	0.6	16	dbSNP_132	77	0,8600		0,0,4300	no	missense,missense	ARHGAP17	NM_001006634.1,NM_018054.4	149,149	0,1,6496	AA,AT,TT		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	783/882,705/804	24942272	1,12993	2197	4300	6497	SO:0001583	missense	55114	exon19			TCAGGGTTACCCC	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2348A>T	16.37:g.24942272T>A	ENSP00000289968:p.Asn783Ile	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	179	76	0.424581	NM_001006634	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.57	1.977941	0.34942	2.28E-4	0.0	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.21361	2.01;2.06	5.13	5.13	0.70059	.	0.588411	0.14194	N	0.335149	T	0.34658	0.0905	L	0.44542	1.39	0.80722	D	1	B;B;D;P;P	0.64830	0.343;0.232;0.994;0.736;0.729	B;B;P;B;B	0.59703	0.134;0.063;0.862;0.205;0.372	T	0.02294	-1.1181	10	0.52906	T	0.07	.	12.8937	0.58087	0.0:0.0:0.0:1.0	.	705;783;316;616;344	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	I	783;705;783	ENSP00000289968:N783I;ENSP00000303130:N705I	ENSP00000289968:N783I	N	-	2	0	ARHGAP17	24849773	0.994000	0.37717	0.604000	0.28916	0.012000	0.07955	1.696000	0.37773	1.923000	0.55706	0.528000	0.53228	AAC	T|0.999;A|0.001	0.001	strong		0.632	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		A	24942272	T	A	24942272	3	1	22	1	0	0	0	0	1	0	0	0	867	1725	60	5	305	5	ARHGAP17	16	24942272	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53679	24942272	65412481	8175	13283										
ARHGAP17	55114	hgsc.bcm.edu	37	chr16	24965975	24965975	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacacaggcttcaatgggCagcgcaatctcgcgcccgct	11	14	2	1	rs111986765	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:24965975C>G	ENST00000289968.6	-	10	870	c.801G>C	c.(799-801)ctG>ctC	p.L267L	ARHGAP17_ENST00000303665.5_Silent_p.L267L|ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	267	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTTCAATGGGCAGCGCAATCT	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.0				p.L267L		Atlas-SNP	.											.	ARHGAP17	138	.	0			c.G801C						PASS	.	C	,	1,4393	2.1+/-5.4	0,1,2196	138	132	134		801,801	-10.4	0.1	16	dbSNP_132	134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP17	NM_001006634.1,NM_018054.4	,	0,1,6496	GG,GC,CC		0.0,0.0228,0.0077	,	267/882,267/804	24965975	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	55114	exon10			AATGGGCAGCGCA	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.801G>C	16.37:g.24965975C>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_001006634	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																			C|0.999;G|0.001	0.001	strong		0.542	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		G	24965975	C	G	24965975	2	3	22	1	0	0	0	0	0	0	0	1	867	697	25	4		4	ARHGAP17	16	24965975	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23703	24965975	65388778	8176	13284										
AQP8	343	hgsc.bcm.edu	37	chr16	25228566	25228566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgacaaggccagggagccGagcgtgggtggcaggtggcg	20	8	0	1	rs139992979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:25228566G>A	ENST00000219660.5	+	2	185	c.60G>A	c.(58-60)ccG>ccA	p.P20P	AQP8_ENST00000566125.1_Silent_p.P14P	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	20					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCAGGGAGCCGAGCGTGGGTG	0.577													G|||	50	0.00998403	0.031	0.0115	5008	,	,		18800	0.0		0.001	False		,,,				2504	0.0				p.P20P		Atlas-SNP	.											.	AQP8	75	.	0			c.G60A						PASS	.	G		105,4289	82.4+/-120.9	2,101,2094	190	187	188		60	-9.9	0	16	dbSNP_134	188	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	AQP8	NM_001169.2		2,106,6389	AA,AG,GG		0.0581,2.3896,0.8465		20/262	25228566	110,12884	2197	4300	6497	SO:0001819	synonymous_variant	343	exon2			GGAGCCGAGCGTG	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.60G>A	16.37:g.25228566G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	238	111	0.466387	NM_001169	Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	CCDS10626.1																																																																																			G|0.993;A|0.007	0.007	strong		0.577	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		A	25228566	G	A	25228566	2	1	22	1	0	0	0	0	0	0	0	1	832	1045	37	1		1	AQP8	16	25228566	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262591	25228566	65126187	8177	13285										
ZKSCAN2	342357	hgsc.bcm.edu	37	chr16	25258655	25258655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatgcagacctagagtccAtggctcctttctctgttcca	9	12	1	2	rs61742723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:25258655A>G	ENST00000328086.7	-	5	1665	c.862T>C	c.(862-864)Tgg>Cgg	p.W288R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	288	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCTAGAGTCCATGGCTCCTTT	0.423													A|||	532	0.10623	0.2481	0.1124	5008	,	,		22162	0.0159		0.0626	False		,,,				2504	0.0481				p.W288R		Atlas-SNP	.											.	ZKSCAN2	90	.	0			c.T862C						PASS	.	A	ARG/TRP	938,3456	356.9+/-313.7	106,726,1365	133	124	127		862	5	0.2	16	dbSNP_129	127	519,8081	146.8+/-202.3	18,483,3799	yes	missense	ZKSCAN2	NM_001012981.4	101	124,1209,5164	GG,GA,AA		6.0349,21.3473,11.2129	probably-damaging	288/968	25258655	1457,11537	2197	4300	6497	SO:0001583	missense	342357	exon5			GAGTCCATGGCTC	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.862T>C	16.37:g.25258655A>G	ENSP00000331626:p.Trp288Arg	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	96	50	0.520833	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	220	0.10073260073260074	128	0.2601626016260163	34	0.09392265193370165	11	0.019230769230769232	47	0.06200527704485488	A	16.45	3.125886	0.56721	0.213473	0.060349	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.12984	2.63	6.06	4.97	0.65823	Krueppel-associated box (2);	0.306645	0.29246	N	0.012715	T	0.00012	0.0000	M	0.79123	2.44	0.31262	P	0.692825	B;P;B	0.43701	0.014;0.815;0.024	B;P;B	0.47430	0.02;0.547;0.02	T	0.21109	-1.0255	9	0.59425	D	0.04	-7.9632	10.3613	0.43996	0.9232:0.0:0.0768:0.0	.	84;288;288	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	R	288	ENSP00000331626:W288R	ENSP00000331626:W288R	W	-	1	0	ZKSCAN2	25166156	0.996000	0.38824	0.198000	0.23420	0.737000	0.42083	2.967000	0.49216	1.119000	0.41883	0.533000	0.62120	TGG	A|0.891;G|0.109	0.109	strong		0.423	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		G	25258655	A	G	25258655	3	3	22	1	0	0	0	0	1	0	0	0	17684	217	8	2	2053	2	ZKSCAN2	16	25258655	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30089	25258655	65096098	8178	13286										
ZKSCAN2	342357	hgsc.bcm.edu	37	chr16	25266547	25266547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattcttgggtaagggccgaCgttctcgctttcggttcagc	12	11	3	0	rs113273135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:25266547C>A	ENST00000328086.7	-	2	1369	c.566G>T	c.(565-567)cGt>cTt	p.R189L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	189					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TAAGGGCCGACGTTCTCGCTT	0.602													C|||	70	0.0139776	0.0477	0.0072	5008	,	,		17212	0.0		0.002	False		,,,				2504	0.0				p.R189L		Atlas-SNP	.											ZKSCAN2,NS,carcinoma,-1,1	ZKSCAN2	90	1	0			c.G566T						PASS	.	C	LEU/ARG	136,4258	98.0+/-136.7	2,132,2063	114	99	104		566	-5.2	0	16	dbSNP_132	104	8,8592	5.0+/-18.6	1,6,4293	yes	missense	ZKSCAN2	NM_001012981.4	102	3,138,6356	AA,AC,CC		0.093,3.0951,1.1082	benign	189/968	25266547	144,12850	2197	4300	6497	SO:0001583	missense	342357	exon2			GGCCGACGTTCTC	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.566G>T	16.37:g.25266547C>A	ENSP00000331626:p.Arg189Leu	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	101	58	0.574257	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	24	0.01098901098901099	19	0.03861788617886179	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	0.541	-0.853648	0.02630	0.030951	9.3E-4	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.14144	2.53	5.3	-5.17	0.02849	.	1.318600	0.04683	N	0.412758	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36456	-0.9747	10	0.12766	T	0.61	0.0	0.7766	0.01033	0.3527:0.1598:0.1131:0.3743	.	189;189	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	L	189	ENSP00000331626:R189L	ENSP00000331626:R189L	R	-	2	0	ZKSCAN2	25174048	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.679000	0.05203	-0.480000	0.06803	-1.467000	0.01014	CGT	C|0.991;A|0.009	0.009	strong		0.602	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		A	25266547	C	A	25266547	3	1	22	1	0	0	0	0	1	0	0	0	17684	536	19	4	2361	4	ZKSCAN2	16	25266547	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7892	25266547	65088206	8179	13287										
NSMCE1	197370	hgsc.bcm.edu	37	chr16	27238110	27238110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtctcccggatgtattgCtccatctccaggatggcccg	10	14	2	0	rs1127228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27238110C>T	ENST00000361439.4	-	6	630	c.531G>A	c.(529-531)gaG>gaA	p.E177E	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	177					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						GGATGTATTGCTCCATCTCCA	0.627													C|||	1582	0.315895	0.1747	0.2334	5008	,	,		20417	0.4653		0.3519	False		,,,				2504	0.3742				p.E177E		Atlas-SNP	.											.	NSMCE1	28	.	0			c.G531A						PASS	.	C		772,3422		63,646,1388	121	130	127		531	3.1	1	16	dbSNP_86	127	2871,5543		507,1857,1843	no	coding-synonymous	NSMCE1	NM_145080.3		570,2503,3231	TT,TC,CC		34.1217,18.4072,28.8944		177/267	27238110	3643,8965	2097	4207	6304	SO:0001819	synonymous_variant	197370	exon6			GTATTGCTCCATC	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.531G>A	16.37:g.27238110C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_145080	D3DWF6|Q9P045|Q9P049	Silent	SNP	ENST00000361439.4	37	CCDS10628.2																																																																																			C|0.668;T|0.332	0.332	strong		0.627	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		T	27238110	C	T	27238110	2	4	22	1	0	0	0	0	0	0	0	1	10675	796	28	2		2	NSMCE1	16	27238110	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1971563	27238110	63116643	8180	13288										
NSMCE1	197370	hgsc.bcm.edu	37	chr16	27268779	27268779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggaccttgtagcagtgcGtctgcaagcgcttcacgtcc	11	13	2	0	rs7195194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27268779G>C	ENST00000361439.4	-	2	212	c.113C>G	c.(112-114)aCg>aGg	p.T38R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	38	Interaction with NDNL2.		T -> R (in dbSNP:rs7195194).		DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						GTAGCAGTGCGTCTGCAAGCG	0.557													C|||	453	0.0904553	0.3124	0.0447	5008	,	,		18274	0.0		0.008	False		,,,				2504	0.001				p.T38R		Atlas-SNP	.											NSMCE1,NS,carcinoma,0,1	NSMCE1	28	1	0			c.C113G						PASS	.	C	ARG/THR	1012,3224		115,782,1221	117	125	122		113	1	1	16	dbSNP_116	122	110,8326		2,106,4110	yes	missense	NSMCE1	NM_145080.3	71	117,888,5331	CC,CG,GG		1.3039,23.8905,8.8542	benign	38/267	27268779	1122,11550	2118	4218	6336	SO:0001583	missense	197370	exon2			CAGTGCGTCTGCA	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.113C>G	16.37:g.27268779G>C	ENSP00000355077:p.Thr38Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	95	51	0.536842	NM_145080	D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	CCDS10628.2	173	0.07921245421245421	153	0.31097560975609756	16	0.04419889502762431	0	0.0	4	0.005277044854881266	C	0.325	-0.959541	0.02267	0.238905	0.013039	ENSG00000169189	ENST00000361439	T	0.29917	1.55	4.85	0.995	0.19838	.	0.349466	0.31188	N	0.008096	T	0.00012	0.0000	N	0.01874	-0.695	0.54753	P	1.0999999999983245E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	9	0.08599	T	0.76	.	3.9853	0.09513	0.0:0.3662:0.2003:0.4335	rs7195194;rs11553889;rs17845594;rs17858499;rs7195194	38	Q8WV22	NSE1_HUMAN	R	38	ENSP00000355077:T38R	ENSP00000355077:T38R	T	-	2	0	NSMCE1	27176280	0.233000	0.23772	0.974000	0.42286	0.526000	0.34562	-0.508000	0.06344	0.033000	0.15463	-1.389000	0.01157	ACG	G|0.913;C|0.087	0.087	strong		0.557	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		C	27268779	G	C	27268779	3	2	22	1	0	0	0	0	1	0	0	0	10675	1145	40	4	715	4	NSMCE1	16	27268779	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30669	27268779	63085974	8181	13289										
IL4R	3566	hgsc.bcm.edu	37	chr16	27356271	27356271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgacgtggtcagtgcggaTaactatacactggacctgtg	13	8	1	1	rs112497527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27356271T>C	ENST00000395762.2	+	5	550	c.291T>C	c.(289-291)gaT>gaC	p.D97D	IL4R_ENST00000170630.2_Silent_p.D97D|IL4R_ENST00000543915.2_Silent_p.D97D|IL4R_ENST00000380922.3_Silent_p.D82D|IL4R_ENST00000449195.1_Silent_p.D97D	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	97		Major IL4 binding determinant.			defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCAGTGCGGATAACTATACAC	0.642													C|||	66	0.0131789	0.0469	0.0058	5008	,	,		14225	0.0		0.0	False		,,,				2504	0.0				p.D97D		Atlas-SNP	.											.	IL4R	70	.	0			c.T291C						PASS	.	C	,	198,4196	807.2+/-415.9	3,192,2002	108	92	98		291,291	2.4	0	16	dbSNP_132	98	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous	IL4R	NM_000418.2,NM_001008699.1	,	3,194,6300	CC,CT,TT		0.0233,4.5061,1.5392	,	97/826,97/228	27356271	200,12794	2197	4300	6497	SO:0001819	synonymous_variant	3566	exon5			TGCGGATAACTAT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.291T>C	16.37:g.27356271T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	111	50	0.45045	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																			T|0.988;C|0.012	0.012	strong		0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27356271	T	C	27356271	2	2	22	1	0	0	0	0	0	0	0	1	7698	1403	49	2		2	IL4R	16	27356271	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	87492	27356271	62998482	8182	13290										
IL4R	3566	hgsc.bcm.edu	37	chr16	27373872	27373872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttccaggagggaagggAgggcattgtggcccggctaa	17	8	0	1	rs1805011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27373872A>C	ENST00000395762.2	+	11	1458	c.1199A>C	c.(1198-1200)gAg>gCg	p.E400A	IL4R_ENST00000170630.2_Missense_Mutation_p.E400A|IL4R_ENST00000543915.2_Missense_Mutation_p.E400A|IL4R_ENST00000380922.3_Missense_Mutation_p.E385A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	400			E -> A (associated with cedar pollen sensitization; dbSNP:rs1805011). {ECO:0000269|PubMed:11285129, ECO:0000269|PubMed:14657871, ECO:0000269|PubMed:9070874, ECO:0000269|Ref.5}.		defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.E400A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGGGAAGGGAGGGCATTGTG	0.597													A|||	1184	0.236422	0.6218	0.1599	5008	,	,		20414	0.0833		0.1064	False		,,,				2504	0.0613				p.E400A		Atlas-SNP	.											IL4R,NS,carcinoma,0,1	IL4R	70	1	1	Substitution - Missense(1)	stomach(1)	c.A1199C	GRCh37	CM993665	IL4R	M	rs1805011	PASS	.	A	ALA/GLU	2307,2087	602.3+/-389.9	600,1107,490	69	71	70		1199	0.2	0.1	16	dbSNP_89	70	961,7639	208.6+/-250.0	61,839,3400	yes	missense	IL4R	NM_000418.2	107	661,1946,3890	CC,CA,AA		11.1744,47.4966,25.1501	possibly-damaging	400/826	27373872	3268,9726	2197	4300	6497	SO:0001583	missense	3566	exon11			GAAGGGAGGGCAT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1199A>C	16.37:g.27373872A>C	ENSP00000379111:p.Glu400Ala	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	88	46	0.522727	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	488	0.22344322344322345	298	0.6056910569105691	63	0.17403314917127072	42	0.07342657342657342	85	0.11213720316622691	A	4.095	0.015726	0.07959	0.525034	0.111744	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.42	0.212	0.15240	.	24.689100	0.00589	N	0.000344	T	0.00012	0.0000	L	0.43923	1.385	0.80722	P	0.0	B;B;B	0.33857	0.429;0.429;0.429	B;B;B	0.24006	0.05;0.05;0.05	T	0.46512	-0.9186	9	0.22706	T	0.39	-15.7238	7.3209	0.26528	0.3929:0.4658:0.0:0.1414	rs1805011;rs17548775;rs58115555;rs1805011	385;400;400	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	400;400;385;400	ENSP00000379111:E400A;ENSP00000441667:E400A;ENSP00000370309:E385A;ENSP00000170630:E400A	ENSP00000170630:E400A	E	+	2	0	IL4R	27281373	0.993000	0.37304	0.092000	0.20876	0.093000	0.18481	0.330000	0.19715	-0.253000	0.09514	-0.336000	0.08194	GAG	A|0.756;C|0.244	0.244	strong		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27373872	A	C	27373872	3	2	22	1	0	0	0	0	1	0	0	0	7698	304	11	5	1251	5	IL4R	16	27373872	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17601	27373872	62980881	8183	13291			28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL4R	3566	hgsc.bcm.edu	37	chr16	27373915	27373915	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagcctgttcctggacctGctcggagaggagaatggggg	18	8	0	3	rs2234898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27373915G>T	ENST00000395762.2	+	11	1501	c.1242G>T	c.(1240-1242)ctG>ctT	p.L414L	IL4R_ENST00000170630.2_Silent_p.L414L|IL4R_ENST00000543915.2_Silent_p.L414L|IL4R_ENST00000380922.3_Silent_p.L399L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	414					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.L414L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCTGGACCTGCTCGGAGAGG	0.592													G|||	1180	0.235623	0.6225	0.1599	5008	,	,		20234	0.0774		0.1064	False		,,,				2504	0.0624				p.L414L		Atlas-SNP	.											IL4R,NS,carcinoma,0,1	IL4R	70	1	1	Substitution - coding silent(1)	stomach(1)	c.G1242T						PASS	.	G		2304,2090	601.6+/-389.7	600,1104,493	67	69	69		1242	-0.4	0.4	16	dbSNP_98	69	956,7644	208.2+/-249.7	59,838,3403	no	coding-synonymous	IL4R	NM_000418.2		659,1942,3896	TT,TG,GG		11.1163,47.5649,25.0885		414/826	27373915	3260,9734	2197	4300	6497	SO:0001819	synonymous_variant	3566	exon11			GGACCTGCTCGGA	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1242G>T	16.37:g.27373915G>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	88	46	0.522727	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																			G|0.756;T|0.244	0.244	strong		0.592	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27373915	G	T	27373915	2	4	22	1	0	0	0	0	0	0	0	1	7698	1306	46	4		4	IL4R	16	27373915	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43	27373915	62980838	8184	13292			28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL4R	3566	hgsc.bcm.edu	37	chr16	27373966	27373966	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacatgggggagtcatgCcttcttccaccttcgggaag					rs2234899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27373966C>T	ENST00000395762.2	+	11	1552	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	IL4R_ENST00000170630.2_Silent_p.C431C|IL4R_ENST00000543915.2_Silent_p.C431C|IL4R_ENST00000380922.3_Silent_p.C416C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	431			C -> R (in dbSNP:rs1805012). {ECO:0000269|PubMed:11285129, ECO:0000269|PubMed:9070874, ECO:0000269|Ref.5}.		defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGGAGTCATGCCTTCTTCCAC	0.617													C|||	152	0.0303514	0.1044	0.0086	5008	,	,		19640	0.0		0.008	False		,,,				2504	0.0				p.C431C		Atlas-SNP	.											IL4R,lymph_node,lymphoid_neoplasm,+2,1	IL4R	70	1	0			c.C1293T						PASS	.	C		380,4014	189.9+/-215.9	8,364,1825	75	74	75		1293	-0.2	0	16	dbSNP_98	75	68,8532	40.3+/-97.0	2,64,4234	no	coding-synonymous	IL4R	NM_000418.2		10,428,6059	TT,TC,CC		0.7907,8.6482,3.4477		431/826	27373966	448,12546	2197	4300	6497	SO:0001819	synonymous_variant	3566	exon11			GTCATGCCTTCTT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1293C>T	16.37:g.27373966C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	30	0.309278	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																			C|0.966;T|0.034	0.034	strong		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27373966	C	T	27373966	2	4	22	1	0	0	0	0	0	0	0	1	7698	747	26	2		2	IL4R	16	27373966	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51	27373966	62980787	8185	13293	276	2	28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL4R	3566	hgsc.bcm.edu	37	chr16	27373972	27373972	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggggagtcatgccttctTccaccttcgggaagtacgag					rs2234900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27373972T>C	ENST00000395762.2	+	11	1558	c.1299T>C	c.(1297-1299)ctT>ctC	p.L433L	IL4R_ENST00000170630.2_Silent_p.L433L|IL4R_ENST00000543915.2_Silent_p.L433L|IL4R_ENST00000380922.3_Silent_p.L418L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	433					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGCCTTCTTCCACCTTCGG	0.617													t|||	1319	0.263379	0.6876	0.1758	5008	,	,		19679	0.0992		0.1262	False		,,,				2504	0.0624				p.L433L		Atlas-SNP	.											.	IL4R	70	.	0			c.T1299C						PASS	.	C		2502,1892	625.5+/-394.5	714,1074,409	73	73	73		1299	-10.2	0	16	dbSNP_98	73	1024,7576	215.7+/-255.0	67,890,3343	no	coding-synonymous	IL4R	NM_000418.2		781,1964,3752	CC,CT,TT		11.907,43.0587,27.1356		433/826	27373972	3526,9468	2197	4300	6497	SO:0001819	synonymous_variant	3566	exon11			CCTTCTTCCACCT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1299T>C	16.37:g.27373972T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	30	0.309278	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																			T|0.727;C|0.273	0.273	strong		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27373972	T	C	27373972	2	2	22	1	0	0	0	0	0	0	0	1	7698	1770	62	2		2	IL4R	16	27373972	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6	27373972	62980781	8186	13294	276	2	28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL4R	3566	hgsc.bcm.edu	37	chr16	27374180	27374180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccgcagcttcagcaacTccctgagccagtcaccgtgt	8	16	2	1	rs1805015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27374180T>C	ENST00000395762.2	+	11	1766	c.1507T>C	c.(1507-1509)Tcc>Ccc	p.S503P	IL4R_ENST00000543915.2_Missense_Mutation_p.S503P|IL4R_ENST00000380922.3_Missense_Mutation_p.S488P|IL4R_ENST00000170630.2_Missense_Mutation_p.S503P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	503	Required for IRS1 activation and IL4- induced cell growth.		S -> P (lowered total IgE concentration; dbSNP:rs1805015). {ECO:0000269|PubMed:10233717, ECO:0000269|PubMed:11285129, ECO:0000269|Ref.5}.		defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCAGCAACTCCCTGAGCCA	0.622													T|||	1010	0.201677	0.4251	0.1614	5008	,	,		19105	0.0843		0.1521	False		,,,				2504	0.1002				p.S503P		Atlas-SNP	.											IL4R,colon,carcinoma,0,1	IL4R	70	1	0			c.T1507C	GRCh37	CM993667	IL4R	M	rs1805015	PASS	.	T	PRO/SER	1595,2799	491.1+/-362.0	292,1011,894	78	83	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1507	1.6	0	16	dbSNP_89	81	1391,7209	265.3+/-286.1	110,1171,3019	yes	missense	IL4R	NM_000418.2	74	402,2182,3913	CC,CT,TT		16.1744,36.2995,22.9798	possibly-damaging	503/826	27374180	2986,10008	2197	4300	6497	SO:0001583	missense	3566	exon11			AGCAACTCCCTGA	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1507T>C	16.37:g.27374180T>C	ENSP00000379111:p.Ser503Pro	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	103	51	0.495146	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	458	0.2097069597069597	227	0.4613821138211382	62	0.1712707182320442	43	0.07517482517482517	126	0.1662269129287599	T	12.87	2.068150	0.36470	0.362995	0.161744	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	4.99	1.57	0.23409	.	10.161500	0.00166	N	0.000000	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P;P;P	0.36144	0.539;0.539;0.539	B;B;B	0.31016	0.123;0.123;0.123	T	0.45056	-0.9287	9	0.33141	T	0.24	.	6.2127	0.20638	0.0:0.2856:0.0:0.7143	rs1805015;rs17513769;rs60163518;rs1805015	488;503;503	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	P	503;503;488;503	ENSP00000379111:S503P;ENSP00000441667:S503P;ENSP00000370309:S488P;ENSP00000170630:S503P	ENSP00000170630:S503P	S	+	1	0	IL4R	27281681	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.118000	0.15605	0.762000	0.33152	0.459000	0.35465	TCC	T|0.773;C|0.227	0.227	strong		0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27374180	T	C	27374180	3	2	22	1	0	0	0	0	1	0	0	0	7698	1551	54	3	1559	3	IL4R	16	27374180	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	208	27374180	62980573	8187	13295			28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL4R	3566	hgsc.bcm.edu	37	chr16	27374400	27374400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccccaccagtggctatcAggagtttgtacatgcggtgg	14	11	1	0	rs1801275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27374400A>G	ENST00000395762.2	+	11	1986	c.1727A>G	c.(1726-1728)cAg>cGg	p.Q576R	IL4R_ENST00000170630.2_Missense_Mutation_p.Q576R|IL4R_ENST00000543915.2_Missense_Mutation_p.Q576R|IL4R_ENST00000380922.3_Missense_Mutation_p.Q561R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	576	Required for IL4-induced gene expression.		Q -> R (associated with atopic dermatitis; lowered total IgE concentration; no effect on IL4-induced signal transduction; dbSNP:rs1801275). {ECO:0000269|PubMed:10233717, ECO:0000269|PubMed:10809862, ECO:0000269|PubMed:11285129, ECO:0000269|PubMed:9392697, ECO:0000269|Ref.5}.		defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTGGCTATCAGGAGTTTGTA	0.647													G|||	1880	0.375399	0.792	0.3213	5008	,	,		17561	0.1657		0.2078	False		,,,				2504	0.2393				p.Q576R		Atlas-SNP	.											.	IL4R	70	.	0			c.A1727G	GRCh37	CM970783	IL4R	M	rs1801275	PASS	.	G	ARG/GLN	2963,1431		1034,895,268	26	33	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1727	2.8	0.5	16	dbSNP_89	31	1753,6847		173,1407,2720	yes	missense	IL4R	NM_000418.2	43	1207,2302,2988	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	20.3837,32.5671,36.2937	benign	576/826	27374400	4716,8278	2197	4300	6497	SO:0001583	missense	3566	exon11			GCTATCAGGAGTT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1727A>G	16.37:g.27374400A>G	ENSP00000379111:p.Gln576Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	68	43	0.632353	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	754	0.34523809523809523	400	0.8130081300813008	108	0.2983425414364641	82	0.14335664335664336	164	0.21635883905013192	G	0.768	-0.766897	0.02974	0.674329	0.203837	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08984	3.04;3.04;3.03;3.04	4.81	2.8	0.32819	.	2.483730	0.02371	N	0.077918	T	0.00012	0.0000	N	0.00801	-1.175	0.58432	P	1.999999999946489E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33343	-0.9872	9	0.02654	T	1	-28.5034	6.9231	0.24399	0.3112:0.0:0.6888:0.0	rs1801275;rs52820812;rs61543625;rs1801275	561;576;576	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	R	576;576;561;576	ENSP00000379111:Q576R;ENSP00000441667:Q576R;ENSP00000370309:Q561R;ENSP00000170630:Q576R	ENSP00000170630:Q576R	Q	+	2	0	IL4R	27281901	0.995000	0.38212	0.512000	0.27736	0.660000	0.38997	1.015000	0.29963	0.463000	0.27118	-0.222000	0.12452	CAG	A|0.641;G|0.358	0.358	strong		0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			G	27374400	A	G	27374400	3	3	22	1	0	0	0	0	1	0	0	0	7698	188	7	3	1779	3	IL4R	16	27374400	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	220	27374400	62980353	8188	13296			28	57		6	5	529	N	T_G_C_A	4.475727e-05
IL21R	50615	hgsc.bcm.edu	37	chr16	27460437	27460437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgggctcacccctggccGgcctggatatggacacgttt	14	13	1	0	rs3093386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27460437G>A	ENST00000337929.3	+	9	1923	c.1450G>A	c.(1450-1452)Ggc>Agc	p.G484S	IL21R_ENST00000395755.1_Missense_Mutation_p.G484S|IL21R_ENST00000395754.4_Missense_Mutation_p.G484S|IL21R_ENST00000564089.1_Missense_Mutation_p.G484S|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386). {ECO:0000269|Ref.4}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCCCTGGCCGGCCTGGATAT	0.677			T	BCL6	NHL								G|||	180	0.0359425	0.1324	0.0058	5008	,	,		18816	0.0		0.001	False		,,,				2504	0.0				p.G506S		Atlas-SNP	.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R	95	.	0			c.G1516A						PASS	.	G	SER/GLY,SER/GLY,SER/GLY	415,3979		26,363,1808	42	39	40		1450,1450,1516	2.6	0.9	16	dbSNP_103	40	3,8597		0,3,4297	yes	missense,missense,missense	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	56,56,56	26,366,6105	AA,AG,GG		0.0349,9.4447,3.2169	benign,benign,benign	484/539,484/539,506/561	27460437	418,12576	2197	4300	6497	SO:0001583	missense	50615	exon10			CTGGCCGGCCTGG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1450G>A	16.37:g.27460437G>A	ENSP00000338010:p.Gly484Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	112	58	0.517857	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	64	0.029304029304029304	59	0.11991869918699187	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	14.35	2.509511	0.44660	0.094447	3.49E-4	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15952	2.38;2.38;2.38	4.9	2.64	0.31445	.	0.231408	0.37437	N	0.002082	T	0.00144	0.0004	L	0.50919	1.6	0.29586	N	0.848826	P	0.42357	0.777	B	0.30179	0.112	T	0.16512	-1.0400	10	0.15952	T	0.53	-30.5288	4.0671	0.09866	0.124:0.0:0.6404:0.2356	rs3093386;rs61328560;rs3093386	484	Q9HBE5	IL21R_HUMAN	S	484	ENSP00000338010:G484S;ENSP00000379104:G484S;ENSP00000379103:G484S	ENSP00000338010:G484S	G	+	1	0	IL21R	27367938	0.055000	0.20627	0.916000	0.36221	0.741000	0.42261	0.087000	0.14958	2.271000	0.75665	0.561000	0.74099	GGC	G|0.962;A|0.038	0.038	strong		0.677	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27460437	G	A	27460437	3	1	22	1	0	0	0	0	1	0	0	0	7671	1116	39	1	1480	1	IL21R	16	27460437	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86037	27460437	62894316	8189	13297										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27689137	27689137	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtatgactctattgaggaaGacatactctctgagcctgag	10	8	2	5	rs147094899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27689137G>T	ENST00000261588.4	+	7	647	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	210						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TATTGAGGAAGACATACTCTC	0.507													G|||	40	0.00798722	0.028	0.0014	5008	,	,		16870	0.001		0.001	False		,,,				2504	0.0				p.D210Y		Atlas-SNP	.											.	KIAA0556	348	.	0			c.G628T						PASS	.	G	TYR/ASP	81,4313	71.4+/-109.4	0,81,2116	65	59	61		628	4.5	1	16	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA0556	NM_015202.2	160	0,82,6415	TT,TG,GG		0.0116,1.8434,0.6311	benign	210/1619	27689137	82,12912	2197	4300	6497	SO:0001583	missense	23247	exon7			GAGGAAGACATAC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.628G>T	16.37:g.27689137G>T	ENSP00000261588:p.Asp210Tyr	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	124	54	0.435484	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	12	0.005494505494505495	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.62	2.290322	0.40494	0.018434	1.16E-4	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.49432	0.78	5.48	4.53	0.55603	.	0.296062	0.32175	N	0.006462	T	0.43612	0.1255	L	0.54323	1.7	0.36190	D	0.850035	D;D	0.76494	0.999;0.979	D;P	0.66497	0.944;0.81	T	0.65014	-0.6271	10	0.87932	D	0	-4.2839	10.458	0.44561	0.09:0.0:0.91:0.0	.	118;210	Q8N803;O60303	.;K0556_HUMAN	Y	210;117	ENSP00000261588:D210Y	ENSP00000261588:D210Y	D	+	1	0	KIAA0556	27596638	1.000000	0.71417	0.973000	0.42090	0.021000	0.10359	3.790000	0.55461	1.320000	0.45209	-0.137000	0.14449	GAC	G|0.993;T|0.007	0.007	strong		0.507	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27689137	G	T	27689137	3	4	22	1	0	0	0	0	1	0	0	0	8183	942	33	4	654	4	KIAA0556	16	27689137	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	228700	27689137	62665616	8190	13298										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27692835	27692835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgctgtattcccagaccaGgagaggatgtgctccagtaa	11	11	0	2	rs12923861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27692835G>A	ENST00000261588.4	+	8	943	c.924G>A	c.(922-924)caG>caA	p.Q308Q	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	308						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCCAGACCAGGAGAGGATGT	0.587													G|||	531	0.10603	0.1528	0.1902	5008	,	,		19008	0.001		0.1541	False		,,,				2504	0.0419				p.Q308Q		Atlas-SNP	.											.	KIAA0556	348	.	0			c.G924A						PASS	.	G		658,3736	279.0+/-274.6	48,562,1587	114	121	119		924	1.8	1	16	dbSNP_121	119	1281,7319	252.8+/-278.7	90,1101,3109	no	coding-synonymous	KIAA0556	NM_015202.2		138,1663,4696	AA,AG,GG		14.8953,14.975,14.9223		308/1619	27692835	1939,11055	2197	4300	6497	SO:0001819	synonymous_variant	23247	exon8			AGACCAGGAGAGG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.924G>A	16.37:g.27692835G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	34	18	0.529412	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			G|0.863;A|0.137	0.137	strong		0.587	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27692835	G	A	27692835	2	1	22	1	0	0	0	0	0	0	0	1	8183	991	35	2		2	KIAA0556	16	27692835	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3698	27692835	62661918	8191	13299										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27709812	27709812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccgagcagccagccagCccactgcaggtgcgctccgg	14	16	0	0	rs61740294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27709812C>T	ENST00000261588.4	+	9	1123	c.1104C>T	c.(1102-1104)agC>agT	p.S368S	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	368						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCCAGCCAGCCCACTGCAGG	0.637													C|||	81	0.0161741	0.0575	0.0072	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.0				p.S368S		Atlas-SNP	.											.	KIAA0556	348	.	0			c.C1104T						PASS	.	C		254,4140		7,240,1950	20	21	21		1104	1.3	0.2	16	dbSNP_129	21	0,8600		0,0,4300	no	coding-synonymous	KIAA0556	NM_015202.2		7,240,6250	TT,TC,CC		0.0,5.7806,1.9547		368/1619	27709812	254,12740	2197	4300	6497	SO:0001819	synonymous_variant	23247	exon9			AGCCAGCCCACTG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1104C>T	16.37:g.27709812C>T		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			C|0.978;T|0.022	0.022	strong		0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27709812	C	T	27709812	2	4	22	1	0	0	0	0	0	0	0	1	8183	738	26	2		2	KIAA0556	16	27709812	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16977	27709812	62644941	8192	13300										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27752135	27752135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccacagtgatgactcagaCatctttaaccagccccccaa	6	15	2	3	rs12447120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27752135C>T	ENST00000261588.4	+	15	2536	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	839						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGACTCAGACATCTTTAACC	0.607													C|||	669	0.133586	0.2496	0.1931	5008	,	,		19590	0.001		0.162	False		,,,				2504	0.0419				p.D839D		Atlas-SNP	.											.	KIAA0556	348	.	0			c.C2517T						PASS	.	C		1055,3339	382.3+/-324.4	121,813,1263	48	48	48		2517	4.2	1	16	dbSNP_120	48	1285,7315	252.9+/-278.8	85,1115,3100	no	coding-synonymous	KIAA0556	NM_015202.2		206,1928,4363	TT,TC,CC		14.9419,24.01,18.0083		839/1619	27752135	2340,10654	2197	4300	6497	SO:0001819	synonymous_variant	23247	exon15			CTCAGACATCTTT	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2517C>T	16.37:g.27752135C>T		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			C|0.837;T|0.163	0.163	strong		0.607	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27752135	C	T	27752135	2	4	22	1	0	0	0	0	0	0	0	1	8183	477	17	2		2	KIAA0556	16	27752135	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42323	27752135	62602618	8193	13301										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27763110	27763110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgaggccatattctattcTgatgagatgtttgacctgga	10	8	2	3	rs2289875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:27763110T>C	ENST00000261588.4	+	17	3436	c.3417T>C	c.(3415-3417)tcT>tcC	p.S1139S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1139						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TATTCTATTCTGATGAGATGT	0.537													C|||	513	0.102436	0.2474	0.0274	5008	,	,		18200	0.0913		0.0229	False		,,,				2504	0.0532				p.S1139S		Atlas-SNP	.											.	KIAA0556	348	.	0			c.T3417C						PASS	.	C		884,3510	740.7+/-411.2	84,716,1397	110	98	102		3417	-10	0	16	dbSNP_100	102	178,8422	811.6+/-407.1	1,176,4123	no	coding-synonymous	KIAA0556	NM_015202.2		85,892,5520	CC,CT,TT		2.0698,20.1183,8.173		1139/1619	27763110	1062,11932	2197	4300	6497	SO:0001819	synonymous_variant	23247	exon17			CTATTCTGATGAG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3417T>C	16.37:g.27763110T>C		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	184	82	0.445652	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			T|0.904;C|0.096	0.096	strong		0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		C	27763110	T	C	27763110	2	2	22	1	0	0	0	0	0	0	0	1	8183	1567	55	3		3	KIAA0556	16	27763110	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10975	27763110	62591643	8194	13302										
XPO6	23214	hgsc.bcm.edu	37	chr16	28123226	28123226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgcagagatgaggctggcGtggttgatggagcgcacggg	20	6	0	3	rs205384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:28123226G>A	ENST00000304658.5	-	17	2753	c.2253C>T	c.(2251-2253)caC>caT	p.H751H	XPO6_ENST00000565698.1_Silent_p.H737H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	751					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGGCTGGCGTGGTTGATGG	0.587													G|||	833	0.166334	0.1339	0.2363	5008	,	,		16977	0.1032		0.2773	False		,,,				2504	0.1115				p.H751H		Atlas-SNP	.											.	XPO6	177	.	0			c.C2253T						PASS	.	G		622,3610		54,514,1548	72	79	77		2253	-6.3	0.3	16	dbSNP_79	77	2468,5998		368,1732,2133	no	coding-synonymous	XPO6	NM_015171.2		422,2246,3681	AA,AG,GG		29.1519,14.6975,24.3345		751/1126	28123226	3090,9608	2116	4233	6349	SO:0001819	synonymous_variant	23214	exon17			GCTGGCGTGGTTG	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2253C>T	16.37:g.28123226G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	174	82	0.471264	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																			A|0.220;C|0.000;G|0.780	0.220	strong		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28123226	G	A	28123226	2	1	22	1	0	0	0	0	0	0	0	1	17445	1136	40	1		1	XPO6	16	28123226	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	360116	28123226	62231527	8195	13303										
APOB48R	55911	hgsc.bcm.edu	37	chr16	28508447	28508447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaactgaggagggagaggcAtctgtctcagagaaccagga	16	7	2	3	rs40831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:28508447A>G	ENST00000431282.1	+	3	2068	c.2058A>G	c.(2056-2058)gcA>gcG	p.A686A	APOBR_ENST00000328423.5_Silent_p.A686A|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.A695A|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	686	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGGAGAGGCATCTGTCTCAG	0.612													G|||	2463	0.491813	0.5605	0.5317	5008	,	,		16515	0.373		0.3678	False		,,,				2504	0.6207				p.A695A		Atlas-SNP	.											.	APOBR	89	.	0			c.A2085G						PASS	.	G		2138,2056		584,970,543	22	28	26		2058	0.4	0	16	dbSNP_76	26	3458,4958		747,1964,1497	no	coding-synonymous	APOBR	NM_018690.3		1331,2934,2040	GG,GA,AA		41.0884,49.0224,44.3775		686/1089	28508447	5596,7014	2097	4208	6305	SO:0001819	synonymous_variant	55911	exon2			AGAGGCATCTGTC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2058A>G	16.37:g.28508447A>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	36	12	0.333333	NM_018690	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																				A|0.584;G|0.416	0.416	strong		0.612	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		G	28508447	A	G	28508447	2	3	22	1	0	0	0	0	0	0	0	1	786	204	8	2		2	APOB48R	16	28508447	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	385221	28508447	61846306	8196	13304										
CCDC101	112869	hgsc.bcm.edu	37	chr16	28602991	28602991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcaatgtggctcagagAtacgtggtggcttgtaagga	13	9	2	1	rs11401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:28602991A>G	ENST00000317058.3	+	10	1033	c.846A>G	c.(844-846)agA>agG	p.R282R		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	282	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TGGCTCAGAGATACGTGGTGG	0.582													.|||	872	0.174121	0.1619	0.2017	5008	,	,		19643	0.2212		0.1571	False		,,,				2504	0.1401				p.R282R		Atlas-SNP	.											.	CCDC101	24	.	0			c.A846G						PASS	.	G		746,3648		59,628,1510	131	115	121		846	2.8	1	16	dbSNP_52	121	1497,7103		126,1245,2929	no	coding-synonymous	CCDC101	NM_138414.2		185,1873,4439	GG,GA,AA		17.407,16.9777,17.2618		282/294	28602991	2243,10751	2197	4300	6497	SO:0001819	synonymous_variant	112869	exon10			TCAGAGATACGTG	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.846A>G	16.37:g.28602991A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	107	44	0.411215	NM_138414	Q96MF5	Silent	SNP	ENST00000317058.3	37	CCDS10635.1																																																																																			A|0.832;G|0.168	0.168	strong		0.582	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		G	28602991	A	G	28602991	2	3	22	1	0	0	0	0	0	0	0	1	2735	330	12	2		2	CCDC101	16	28602991	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	94544	28602991	61751762	8197	13305										
SULT1A1	6817	hgsc.bcm.edu	37	chr16	28617413	28617413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatgctgtggtccatgaActcctgggggacggtggtgt	18	7	0	2	rs28374453		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:28617413A>G	ENST00000395607.1	-	7	1012	c.739T>C	c.(739-741)Ttc>Ctc	p.F247L	SULT1A1_ENST00000395609.1_Missense_Mutation_p.F247L|SULT1A1_ENST00000569554.1_Missense_Mutation_p.F247L|SULT1A1_ENST00000350842.4_Missense_Mutation_p.F169L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.F247L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	247					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.F247L(5)|p.F169L(5)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TGGTCCATGAACTCCTGGGGG	0.607																																					p.F247L		Atlas-SNP	.											SULT1A1_ENST00000350842,NS,carcinoma,0,10	SULT1A1	53	10	10	Substitution - Missense(10)	kidney(10)	c.T739C						scavenged	.						264	206	226					16																	28617413		2197	4300	6497	SO:0001583	missense	6817	exon6			CCATGAACTCCTG	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.739T>C	16.37:g.28617413A>G	ENSP00000378971:p.Phe247Leu	Somatic	516	0	0		WXS	Illumina HiSeq	Phase_I	271	83	0.306273	NM_177534	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	56	0.02564102564102564	29	0.05894308943089431	5	0.013812154696132596	1	0.0017482517482517483	21	0.027704485488126648	a	7.042	0.562645	0.13498	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.01548	4.78;4.78;4.78;4.78	2.17	-4.34	0.03666	Sulfotransferase domain (1);	0.865026	0.10074	N	0.719350	T	0.00144	0.0004	N	0.12920	0.275	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46414	-0.9193	10	0.22109	T	0.4	.	1.793	0.03056	0.1608:0.4101:0.2253:0.2039	rs28374453	199;169;247	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	L	247;169;247;247	ENSP00000321988:F247L;ENSP00000329399:F169L;ENSP00000378972:F247L;ENSP00000378971:F247L	ENSP00000321988:F247L	F	-	1	0	SULT1A1	28524914	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-3.681000	0.00394	-1.249000	0.02500	0.248000	0.18094	TTC	A|0.974;G|0.026	0.026	strong		0.607	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		G	28617413	A	G	28617413	3	3	22	1	0	0	0	0	1	0	0	0	15371	43	2	2	156	2	SULT1A1	16	28617413	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14422	28617413	61737340	8198	13306										
ATP2A1	487	hgsc.bcm.edu	37	chr16	28898793	28898793	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggcatcgtggccaccacTggtgtgggcaccgagattgg	16	10	0	1	rs6565259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:28898793T>C	ENST00000357084.3	+	8	945	c.678T>C	c.(676-678)acT>acC	p.T226T	ATP2A1_ENST00000536376.1_Silent_p.T101T|ATP2A1_ENST00000395503.4_Silent_p.T226T	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	226					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGCCACCACTGGTGTGGGCA	0.602													t|||	1697	0.338858	0.5189	0.4942	5008	,	,		18719	0.1617		0.3131	False		,,,				2504	0.1943				p.T226T		Atlas-SNP	.											.	ATP2A1	116	.	0			c.T678C						PASS	.	C	,	2225,2169	590.6+/-387.4	538,1149,510	97	93	94		678,678	-11	0	16	dbSNP_116	94	3020,5580	464.7+/-366.3	540,1940,1820	no	coding-synonymous,coding-synonymous	ATP2A1	NM_004320.4,NM_173201.3	,	1078,3089,2330	CC,CT,TT		35.1163,49.3628,40.3648	,	226/995,226/1002	28898793	5245,7749	2197	4300	6497	SO:0001819	synonymous_variant	487	exon8			CACCACTGGTGTG		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.678T>C	16.37:g.28898793T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	109	50	0.458716	NM_004320	A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																			T|0.631;C|0.369	0.369	strong		0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		C	28898793	T	C	28898793	2	2	22	1	0	0	0	0	0	0	0	1	1136	1567	55	3		3	ATP2A1	16	28898793	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	281380	28898793	61455960	8199	13307										
MVP	9961	hgsc.bcm.edu	37	chr16	29841950	29841950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagaacagcaacgtgtcccGtgtggaggtcgggccaaaga	14	11	0	2	rs142997389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:29841950G>A	ENST00000357402.5	+	2	218	c.80G>A	c.(79-81)cGt>cAt	p.R27H	MVP_ENST00000452209.2_Missense_Mutation_p.V11M|MVP_ENST00000395353.1_Missense_Mutation_p.R27H|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	27					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACGTGTCCCGTGTGGAGGTC	0.597													G|||	40	0.00798722	0.0287	0.0029	5008	,	,		15564	0.0		0.0	False		,,,				2504	0.0				p.R27H		Atlas-SNP	.											.	MVP	80	.	0			c.G80A						PASS	.	G	HIS/ARG,HIS/ARG	112,4282	88.2+/-126.9	0,112,2085	135	97	110		80,80	0.5	0.2	16	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	29,29	0,114,6383	AA,AG,GG		0.0233,2.5489,0.8773	benign,benign	27/894,27/894	29841950	114,12880	2197	4300	6497	SO:0001583	missense	9961	exon2			TGTCCCGTGTGGA	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.80G>A	16.37:g.29841950G>A	ENSP00000349977:p.Arg27His	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	123	52	0.422764	NM_017458	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	12|12	0.005494505494505495|0.005494505494505495	12|12	0.024390243902439025|0.024390243902439025	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.62|14.62	2.588764|2.588764	0.46110|0.46110	0.025489|0.025489	2.33E-4|2.33E-4	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|.	0.33865|.	1.39;1.39|.	5.82|5.82	0.469|0.469	0.16741|0.16741	.|.	0.109460|.	0.64402|.	N|.	0.000005|.	T|T	0.35998|0.35998	0.0951|0.0951	M|M	0.85197|0.85197	2.74|2.74	0.21675|0.21675	N|N	0.999591|0.999591	B|.	0.28400|.	0.21|.	B|.	0.27500|.	0.08|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|6	0.48119|0.87932	T|D	0.1|0	-4.9453|-4.9453	9.041|9.041	0.36319|0.36319	0.3672:0.0:0.6328:0.0|0.3672:0.0:0.6328:0.0	.|.	27|.	Q14764|.	MVP_HUMAN|.	H|M	27|11	ENSP00000349977:R27H;ENSP00000378760:R27H|.	ENSP00000349977:R27H|ENSP00000387916:V11M	R|V	+|+	2|1	0|0	MVP|MVP	29749451|29749451	0.915000|0.915000	0.31059|0.31059	0.191000|0.191000	0.23289|0.23289	0.606000|0.606000	0.37113|0.37113	1.270000|1.270000	0.33086|0.33086	0.110000|0.110000	0.17919|0.17919	-0.224000|-0.224000	0.12420|0.12420	CGT|GTG	G|0.991;A|0.009	0.009	strong		0.597	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29841950	G	A	29841950	3	1	22	1	0	0	0	0	1	0	0	0	9996	1145	40	1	82	1	MVP	16	29841950	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	943157	29841950	60512803	8200	13308										
MVP	9961	hgsc.bcm.edu	37	chr16	29856082	29856082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccccaaaacgggctggtgGtcagcagtgtggacgtgcag	15	11	1	0	rs35916172	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:29856082G>A	ENST00000357402.5	+	11	2041	c.1903G>A	c.(1903-1905)Gtc>Atc	p.V635I	MVP_ENST00000395353.1_Missense_Mutation_p.V635I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	635			V -> I (in dbSNP:rs35916172).		cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGGGCTGGTGGTCAGCAGTGT	0.647													G|||	63	0.0125799	0.0439	0.0058	5008	,	,		16638	0.0		0.001	False		,,,				2504	0.0				p.V635I		Atlas-SNP	.											.	MVP	80	.	0			c.G1903A						PASS	.	G	ILE/VAL,ILE/VAL	151,4243	106.0+/-144.5	0,151,2046	80	81	81		1903,1903	5	1	16	dbSNP_126	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	29,29	0,152,6345	AA,AG,GG		0.0116,3.4365,1.1698	benign,benign	635/894,635/894	29856082	152,12842	2197	4300	6497	SO:0001583	missense	9961	exon11			CTGGTGGTCAGCA	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1903G>A	16.37:g.29856082G>A	ENSP00000349977:p.Val635Ile	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_017458	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	17	0.007783882783882784	16	0.032520325203252036	0	0.0	0	0.0	1	0.0013192612137203166	G	7.470	0.646386	0.14451	0.034365	1.16E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.39406	1.08;1.08	5.91	4.96	0.65561	Shoulder domain (1);	0.103708	0.64402	N	0.000003	T	0.08980	0.0222	N	0.20881	0.62	0.80722	D	1	B	0.18610	0.029	B	0.25140	0.058	T	0.04664	-1.0935	10	0.02654	T	1	-17.7157	9.1044	0.36689	0.1639:0.0:0.836:0.0	rs35916172;rs35916172	635	Q14764	MVP_HUMAN	I	635	ENSP00000349977:V635I;ENSP00000378760:V635I	ENSP00000349977:V635I	V	+	1	0	MVP	29763583	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.270000	0.51600	1.513000	0.48852	0.655000	0.94253	GTC	G|0.985;A|0.015	0.015	strong		0.647	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29856082	G	A	29856082	3	1	22	1	0	0	0	0	1	0	0	0	9996	1261	44	2	1941	2	MVP	16	29856082	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14132	29856082	60498671	8201	13309										
ITGAL	3683	hgsc.bcm.edu	37	chr16	30495496	30495496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaatttgcatcaaaaccCgcgagcgagtttgtgaaaat	8	9	1	1	rs7191097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30495496C>T	ENST00000356798.6	+	9	1098	c.918C>T	c.(916-918)ccC>ccT	p.P306P	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Silent_p.P223P|ITGAL_ENST00000433423.2_Intron|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CATCAAAACCCGCGAGCGAGT	0.468													C|||	423	0.0844649	0.3086	0.0159	5008	,	,		18600	0.0		0.004	False		,,,				2504	0.0				p.P306P	NSCLC(110;1462 1641 3311 33990 49495)	Atlas-SNP	.											.	ITGAL	149	.	0			c.C918T						PASS	.	C	,	1274,3120	434.7+/-344.0	192,890,1115	110	112	111		669,918	-3.8	0	16	dbSNP_116	111	27,8573	17.9+/-57.8	1,25,4274	no	coding-synonymous,coding-synonymous	ITGAL	NM_001114380.1,NM_002209.2	,	193,915,5389	TT,TC,CC		0.314,28.9941,10.0123	,	223/1087,306/1171	30495496	1301,11693	2197	4300	6497	SO:0001819	synonymous_variant	3683	exon9			AAAACCCGCGAGC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.918C>T	16.37:g.30495496C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_002209	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	CCDS32433.1																																																																																			C|0.900;T|0.100	0.100	strong		0.468	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			T	30495496	C	T	30495496	2	4	22	1	0	0	0	0	0	0	0	1	7886	639	23	1		1	ITGAL	16	30495496	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	639414	30495496	59859257	8202	13310										
ZNF689	115509	hgsc.bcm.edu	37	chr16	30616317	30616317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcactggtggggtttttcAcctgtgtgtgtggtccggtg	18	7	1	0	rs34007971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30616317A>G	ENST00000287461.3	-	3	1108	c.771T>C	c.(769-771)ggT>ggC	p.G257G	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	257					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGTTTTTCACCTGTGTGTG	0.602													G|||	360	0.071885	0.2595	0.0187	5008	,	,		16142	0.0		0.003	False		,,,				2504	0.001				p.G257G		Atlas-SNP	.											.	ZNF689	48	.	0			c.T771C						PASS	.	G		1032,3362	725.7+/-409.6	123,786,1288	86	80	82		771	-8.2	0.1	16	dbSNP_126	82	33,8567	817.8+/-406.9	1,31,4268	no	coding-synonymous	ZNF689	NM_138447.1		124,817,5556	GG,GA,AA		0.3837,23.4866,8.1961		257/501	30616317	1065,11929	2197	4300	6497	SO:0001819	synonymous_variant	115509	exon3			TTTTTCACCTGTG	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.771T>C	16.37:g.30616317A>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	90	47	0.522222	NM_138447	Q658J5	Silent	SNP	ENST00000287461.3	37	CCDS10686.1																																																																																			A|0.917;G|0.083	0.083	strong		0.602	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		G	30616317	A	G	30616317	2	3	22	1	0	0	0	0	0	0	0	1	18091	146	6	2		2	ZNF689	16	30616317	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	120821	30616317	59738436	8203	13311										
ZNF689	115509	hgsc.bcm.edu	37	chr16	30616488	30616488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacataggggcactcgccGgagtgtgcccgccggtgact	14	13	0	1	rs9937653	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30616488G>A	ENST00000287461.3	-	3	937	c.600C>T	c.(598-600)tcC>tcT	p.S200S	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	200					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGCACTCGCCGGAGTGTGCCC	0.577													G|||	155	0.0309505	0.1135	0.0072	5008	,	,		14868	0.0		0.0	False		,,,				2504	0.0				p.S200S		Atlas-SNP	.											.	ZNF689	48	.	0			c.C600T						PASS	.	G		371,4023	190.2+/-216.2	14,343,1840	65	65	65		600	-9.9	0.1	16	dbSNP_119	65	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	ZNF689	NM_138447.1		14,347,6136	AA,AG,GG		0.0465,8.4433,2.8859		200/501	30616488	375,12619	2197	4300	6497	SO:0001819	synonymous_variant	115509	exon3			CTCGCCGGAGTGT	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.600C>T	16.37:g.30616488G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	120	51	0.425	NM_138447	Q658J5	Silent	SNP	ENST00000287461.3	37	CCDS10686.1																																																																																			G|0.972;A|0.028	0.028	strong		0.577	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		A	30616488	G	A	30616488	2	1	22	1	0	0	0	0	0	0	0	1	18091	1103	39	1		1	ZNF689	16	30616488	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	171	30616488	59738265	8204	13312										
SRCAP	10847	hgsc.bcm.edu	37	chr16	30748715	30748715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactccagcttcagctccgGctgcaattcctgcccttgtt	7	17	1	0	rs144295177		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30748715G>A	ENST00000262518.4	+	34	7739	c.7354G>A	c.(7354-7356)Gct>Act	p.A2452T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2390T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2294T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2452	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ttcagctccggctgcaattcc	0.587																																					p.A2452T		Atlas-SNP	.											.	SRCAP	298	.	0			c.G7354A						PASS	.	G	THR/ALA	3,4389	6.2+/-15.9	0,3,2193	124	89	101		7354	1.9	0.2	16	dbSNP_134	101	0,8596		0,0,4298	yes	missense	SRCAP	NM_006662.2	58	0,3,6491	AA,AG,GG		0.0,0.0683,0.0231	benign	2452/3231	30748715	3,12985	2196	4298	6494	SO:0001583	missense	10847	exon34			GCTCCGGCTGCAA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7354G>A	16.37:g.30748715G>A	ENSP00000262518:p.Ala2452Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	149	78	0.52349	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874873	0.17395	6.83E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91521	-2.85;-2.85;-2.86	3.9	1.89	0.25635	.	.	.	.	.	T	0.77164	0.4090	N	0.08118	0	0.19575	N	0.999965	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.61441	-0.7062	9	0.17369	T	0.5	2.0848	6.8859	0.24199	0.1034:0.1777:0.7189:0.0	.	2390;2452	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2452;2390;2294	ENSP00000262518:A2452T;ENSP00000378499:A2390T;ENSP00000343042:A2294T	ENSP00000262518:A2452T	A	+	1	0	SRCAP	30656216	0.830000	0.29337	0.206000	0.23566	0.629000	0.37895	1.913000	0.39956	0.317000	0.23160	0.306000	0.20318	GCT	G|1.000;A|0.000	0.000	weak		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30748715	G	A	30748715	3	1	22	1	0	0	0	0	1	0	0	0	15134	1203	42	2	7480	2	SRCAP	16	30748715	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132227	30748715	59606038	8205	13313										
CTF1	1489	hgsc.bcm.edu	37	chr16	30910830	30910830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcacctcctcaccaaataCgctgagcagctgctccagga	9	16	1	1	rs8059269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30910830C>T	ENST00000279804.2	+	2	157	c.120C>T	c.(118-120)taC>taT	p.Y40Y	CTF1_ENST00000395019.3_Silent_p.Y39Y	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	40					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|leukemia inhibitory factor signaling pathway (GO:0048861)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	leukemia inhibitory factor receptor binding (GO:0005146)			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCACCAAATACGCTGAGCAGC	0.592													C|||	143	0.0285543	0.1051	0.0058	5008	,	,		11807	0.0		0.0	False		,,,				2504	0.0				p.Y40Y		Atlas-SNP	.											.	CTF1	3	.	0			c.C120T						PASS	.	C	,	349,4045	180.5+/-208.7	14,321,1862	67	61	63		117,120	-0.7	1	16	dbSNP_116	63	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous,coding-synonymous	CTF1	NM_001142544.1,NM_001330.3	,	14,325,6158	TT,TC,CC		0.0465,7.9426,2.7166	,	39/201,40/202	30910830	353,12641	2197	4300	6497	SO:0001819	synonymous_variant	1489	exon2			CAAATACGCTGAG	U43030	CCDS10694.1, CCDS45464.1	16p11.2	2014-09-17			ENSG00000150281	ENSG00000150281			2499	protein-coding gene	gene with protein product		600435				8833032	Standard	NM_001330		Approved	CT-1, CT1	uc002dzw.3	Q16619	OTTHUMG00000132413	ENST00000279804.2:c.120C>T	16.37:g.30910830C>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	188	83	0.441489	NM_001330	A8MVX4|Q5U5Y7	Silent	SNP	ENST00000279804.2	37	CCDS10694.1																																																																																			C|0.965;T|0.035	0.035	strong		0.592	CTF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255550.1	NM_001330		T	30910830	C	T	30910830	2	4	22	1	0	0	0	0	0	0	0	1	4007	547	19	1		1	CTF1	16	30910830	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	162115	30910830	59443923	8206	13314										
SETD1A	9739	hgsc.bcm.edu	37	chr16	30978324	30978324	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgggggcactacgggcatCgaggctttcgcctttgggtc	16	11	0	0	rs11866157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:30978324C>A	ENST00000262519.8	+	9	3311	c.2625C>A	c.(2623-2625)atC>atA	p.I875I		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	875					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 methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTACGGGCATCGAGGCTTTCG	0.607													C|||	150	0.0299521	0.1104	0.0058	5008	,	,		14627	0.0		0.0	False		,,,				2504	0.0				p.I875I		Atlas-SNP	.											.	SETD1A	143	.	0			c.C2625A						PASS	.	C		357,4037		14,329,1854	30	27	28		2625	-7.1	0.9	16	dbSNP_120	28	4,8594		0,4,4295	no	coding-synonymous	SETD1A	NM_014712.1		14,333,6149	AA,AC,CC		0.0465,8.1247,2.7786		875/1708	30978324	361,12631	2197	4299	6496	SO:0001819	synonymous_variant	9739	exon9			GGGCATCGAGGCT	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2625C>A	16.37:g.30978324C>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																			C|0.968;A|0.032	0.032	strong		0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30978324	C	A	30978324	2	1	22	1	0	0	0	0	0	0	0	1	14130	874	31	4		4	SETD1A	16	30978324	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67494	30978324	59376429	8207	13315										
ZNF668	79759	hgsc.bcm.edu	37	chr16	31073244	31073244	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacattgcaggcacttgaaCggccggtcgcctgtgtgcac	12	13	1	1	rs34831291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31073244C>A	ENST00000538906.1	-	3	1789	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	ZNF668_ENST00000535577.1_Silent_p.P335P|ZNF668_ENST00000539836.3_Silent_p.P358P|ZNF668_ENST00000426488.2_Silent_p.P358P|ZNF668_ENST00000300849.4_Silent_p.P335P|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000394983.2_Silent_p.P335P|ZNF668_ENST00000417110.2_Missense_Mutation_p.N144K	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCACTTGAACGGCCGGTCGC	0.652													C|||	36	0.0071885	0.0242	0.0058	5008	,	,		15280	0.0		0.0	False		,,,				2504	0.0				p.P358P	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.G1074T						PASS	.	C	,,,	133,4259		3,127,2066	35	37	36		1005,1074,1005,1005	-11.3	0.5	16	dbSNP_126	36	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF668	NM_001172668.1,NM_001172669.1,NM_001172670.1,NM_024706.4	,,,	3,128,6361	AA,AC,CC		0.0116,3.0282,1.032	,,,	335/620,358/643,335/620,335/620	31073244	134,12850	2196	4296	6492	SO:0001819	synonymous_variant	79759	exon4			CTTGAACGGCCGG		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1005G>T	16.37:g.31073244C>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	53	25	0.471698	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	C	3.701	-0.061523	0.07317	0.030282	1.16E-4	ENSG00000232748	ENST00000417110	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66356	-0.5944	5	0.87932	D	0	-27.0566	5.6564	0.17644	0.17:0.1581:0.4906:0.1812	rs34831291	.	.	.	K	144	.	ENSP00000391989:N144K	N	+	3	2	AC135050.1	30980745	0.000000	0.05858	0.522000	0.27862	0.356000	0.29392	-5.729000	0.00102	-1.861000	0.01153	-1.119000	0.02030	AAC	C|0.990;A|0.010	0.010	strong		0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		A	31073244	C	A	31073244	2	1	22	1	0	0	0	0	0	0	0	1	18072	523	19	4		4	ZNF668	16	31073244	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94920	31073244	59281509	8208	13316										
ZNF668	79759	hgsc.bcm.edu	37	chr16	31075364	31075364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcagtgcgcacagcggaaGggcagttcgccagcgtgcga	18	11	0	0	rs34889904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31075364G>A	ENST00000538906.1	-	2	1201	c.417C>T	c.(415-417)ccC>ccT	p.P139P	ZNF668_ENST00000535577.1_Silent_p.P139P|ZNF668_ENST00000539836.3_Silent_p.P162P|ZNF668_ENST00000426488.2_Silent_p.P162P|ZNF668_ENST00000300849.4_Silent_p.P139P|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000394983.2_Silent_p.P139P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAGCGGAAGGGCAGTTCGC	0.697													G|||	38	0.00758786	0.0257	0.0058	5008	,	,		17086	0.0		0.0	False		,,,				2504	0.0				p.P162P	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.C486T						PASS	.	G	,,,	135,4259	84.8+/-123.5	4,127,2066	26	23	24		417,486,417,417	-0.6	1	16	dbSNP_126	24	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF668	NM_001172668.1,NM_001172669.1,NM_001172670.1,NM_024706.4	,,,	4,128,6363	AA,AG,GG		0.0116,3.0724,1.047	,,,	139/620,162/643,139/620,139/620	31075364	136,12854	2197	4298	6495	SO:0001819	synonymous_variant	79759	exon3			GCGGAAGGGCAGT		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.417C>T	16.37:g.31075364G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																			G|0.990;A|0.010	0.010	strong		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		A	31075364	G	A	31075364	2	1	22	1	0	0	0	0	0	0	0	1	18072	987	35	2		2	ZNF668	16	31075364	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2120	31075364	59279389	8209	13317										
ZNF668	79759	hgsc.bcm.edu	37	chr16	31075439	31075439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcggcggccgcactcgggGcacggaaagggcttctcccc	15	15	1	0	rs34107331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31075439G>A	ENST00000538906.1	-	2	1126	c.342C>T	c.(340-342)tgC>tgT	p.C114C	ZNF668_ENST00000535577.1_Silent_p.C114C|ZNF668_ENST00000426488.2_Silent_p.C137C|ZNF668_ENST00000394983.2_Silent_p.C114C|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Silent_p.C137C|ZNF668_ENST00000300849.4_Silent_p.C114C|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCACTCGGGGCACGGAAAGG	0.706													G|||	38	0.00758786	0.0257	0.0058	5008	,	,		14213	0.0		0.0	False		,,,				2504	0.0				p.C137C	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.C411T						PASS	.	G	,,,	130,4260		2,126,2067	22	23	23		342,411,342,342	0.9	1	16	dbSNP_126	23	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF668	NM_001172668.1,NM_001172669.1,NM_001172670.1,NM_024706.4	,,,	2,127,6364	AA,AG,GG		0.0116,2.9613,1.0088	,,,	114/620,137/643,114/620,114/620	31075439	131,12855	2195	4298	6493	SO:0001819	synonymous_variant	79759	exon3			CTCGGGGCACGGA		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.342C>T	16.37:g.31075439G>A		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	14	7	0.5	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																			G|0.990;A|0.010	0.010	strong		0.706	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		A	31075439	G	A	31075439	2	1	22	1	0	0	0	0	0	0	0	1	18072	1195	42	2		2	ZNF668	16	31075439	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75	31075439	59279314	8210	13318										
ZNF646	9726	hgsc.bcm.edu	37	chr16	31092629	31092629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtggagagagccaggggaGgacaagcggtgacgtccatg	19	7	0	2	rs370035952		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31092629G>A	ENST00000394979.2	+	1	5407	c.4984G>A	c.(4984-4986)Gga>Aga	p.G1662R	ZNF646_ENST00000300850.5_Missense_Mutation_p.G1662R			O15015	ZN646_HUMAN	zinc finger protein 646	1662					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCCAGGGGAGGACAAGCGGT	0.662																																					p.G1662R		Atlas-SNP	.											.	ZNF646	133	.	0			c.G4984A						PASS	.	G	ARG/GLY	1,4393	2.1+/-5.4	0,1,2196	63	73	70		4984	2.8	0	16		70	0,8598		0,0,4299	no	missense	ZNF646	NM_014699.3	125	0,1,6495	AA,AG,GG		0.0,0.0228,0.0077	benign	1662/1833	31092629	1,12991	2197	4299	6496	SO:0001583	missense	9726	exon2			AGGGGAGGACAAG	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4984G>A	16.37:g.31092629G>A	ENSP00000378429:p.Gly1662Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	144	83	0.576389	NM_014699	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	5.858	0.342448	0.11069	2.28E-4	0.0	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09445	2.98;3.04	5.8	2.76	0.32466	.	.	.	.	.	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.40831	-0.9542	9	0.20519	T	0.43	-7.682	4.3737	0.11260	0.2498:0.1703:0.5798:0.0	.	1662	O15015-2	.	R	1662	ENSP00000300850:G1662R;ENSP00000378429:G1662R	ENSP00000300850:G1662R	G	+	1	0	ZNF646	31000130	0.133000	0.22466	0.003000	0.11579	0.061000	0.15899	1.546000	0.36179	0.783000	0.33636	0.655000	0.94253	GGA	.	.	weak		0.662	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31092629	G	A	31092629	3	1	22	1	0	0	0	0	1	0	0	0	18059	1001	35	2	4986	2	ZNF646	16	31092629	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17190	31092629	59262124	8211	13319										
PRSS36	146547	hgsc.bcm.edu	37	chr16	31151622	31151622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcccctgtacctcacacCtgttctcctgcccctctgca	6	20	3	0	rs61729752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31151622C>T	ENST00000268281.4	-	14	2340	c.2282G>A	c.(2281-2283)aGg>aAg	p.R761K	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Missense_Mutation_p.R756K	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	761	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TACCTCACACCTGTTCTCCTG	0.537													c|||	78	0.0155751	0.0545	0.0086	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.0				p.R761K		Atlas-SNP	.											.	PRSS36	50	.	0			c.G2282A						PASS	.		LYS/ARG	237,4157	139.6+/-175.2	8,221,1968	57	54	55		2282	2.9	1	16	dbSNP_129	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS36	NM_173502.3	26	8,222,6267	TT,TC,CC		0.0116,5.3937,1.8316	benign	761/856	31151622	238,12756	2197	4300	6497	SO:0001583	missense	146547	exon14			TCACACCTGTTCT	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2282G>A	16.37:g.31151622C>T	ENSP00000268281:p.Arg761Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	50	0.520833	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	C	10.18	1.279325	0.23307	0.053937	1.16E-4	ENSG00000178226	ENST00000268281	T	0.58940	0.3	4.92	2.86	0.33363	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.07818	0.0196	L	0.40543	1.245	0.21740	N	0.99957	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.12967	-1.0527	9	0.59425	D	0.04	.	6.1003	0.20043	0.0:0.7536:0.0:0.2464	.	756;761	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	K	761	ENSP00000268281:R761K	ENSP00000268281:R761K	R	-	2	0	PRSS36	31059123	0.001000	0.12720	1.000000	0.80357	0.981000	0.71138	-0.769000	0.04710	1.125000	0.41998	0.555000	0.69702	AGG	C|0.982;T|0.018	0.018	strong		0.537	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		T	31151622	C	T	31151622	3	4	22	1	0	0	0	0	1	0	0	0	12625	681	24	2	293	2	PRSS36	16	31151622	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58993	31151622	59203131	8212	13320										
PRSS36	146547	hgsc.bcm.edu	37	chr16	31151927	31151927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctccacccgggagctcaGctccaggagggccagggggg	19	13	1	0	rs61976958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31151927G>A	ENST00000268281.4	-	13	2111	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Silent_p.L680L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	685	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CGGGAGCTCAGCTCCAGGAGG	0.706													G|||	78	0.0155751	0.0545	0.0086	5008	,	,		15742	0.0		0.0	False		,,,				2504	0.0				p.L685L		Atlas-SNP	.											.	PRSS36	50	.	0			c.C2053T						PASS	.	G		227,4155		8,211,1972	14	19	17		2053	2.7	1	16	dbSNP_129	17	1,8573		0,1,4286	no	coding-synonymous	PRSS36	NM_173502.3		8,212,6258	AA,AG,GG		0.0117,5.1803,1.7598		685/856	31151927	228,12728	2191	4287	6478	SO:0001819	synonymous_variant	146547	exon13			AGCTCAGCTCCAG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2053C>T	16.37:g.31151927G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	69	28	0.405797	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	CCDS32436.1																																																																																			G|0.983;A|0.017	0.017	strong		0.706	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		A	31151927	G	A	31151927	2	1	22	1	0	0	0	0	0	0	0	1	12625	962	34	2		2	PRSS36	16	31151927	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	305	31151927	59202826	8213	13321										
FUS	2521	hgsc.bcm.edu	37	chr16	31193948	31193948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggacacttcaggctatggCcagagcagctattcttctta	9	11	3	1	rs61733962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31193948C>T	ENST00000254108.7	+	3	258	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FUS_ENST00000568685.1_Silent_p.G51G|FUS_ENST00000380244.3_Silent_p.G51G|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	51	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGGCTATGGCCAGAGCAGCT	0.522			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								C|||	169	0.033746	0.1097	0.0187	5008	,	,		19819	0.0		0.005	False		,,,				2504	0.0061				p.G51G		Atlas-SNP	.		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	.	FUS	52	.	0			c.C153T						PASS	.	C	,,	427,3967	210.8+/-231.2	24,379,1794	100	95	97		153,153,153	1.4	1	16	dbSNP_129	97	30,8570	20.4+/-63.3	0,30,4270	no	coding-synonymous,coding-synonymous,coding-synonymous	FUS	NM_001170634.1,NM_001170937.1,NM_004960.3	,,	24,409,6064	TT,TC,CC		0.3488,9.7178,3.517	,,	51/526,51/523,51/527	31193948	457,12537	2197	4300	6497	SO:0001819	synonymous_variant	2521	exon3			CTATGGCCAGAGC	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.153C>T	16.37:g.31193948C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	183	94	0.513661	NM_001170634	Q9H4A8	Silent	SNP	ENST00000254108.7	37	CCDS10707.1																																																																																			C|0.965;T|0.035	0.035	strong		0.522	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		T	31193948	C	T	31193948	2	4	22	1	0	0	0	0	0	0	0	1	6100	726	26	2		2	FUS	16	31193948	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42021	31193948	59160805	8214	13322										
TRIM72	493829	hgsc.bcm.edu	37	chr16	31235548	31235548	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctctgcgcacccgagcctGgtggtgtcttcctctggccg	13	15	3	0	rs58585879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31235548G>C	ENST00000322122.3	+	7	1190	c.906G>C	c.(904-906)ctG>ctC	p.L302L	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						ACCCGAGCCTGGTGGTGTCTT	0.677													G|||	154	0.0307508	0.1067	0.0086	5008	,	,		12224	0.0		0.002	False		,,,				2504	0.0051				p.L302L		Atlas-SNP	.											.	TRIM72	32	.	0			c.G906C						PASS	.	G		414,3970		20,374,1798	22	23	23		906	2.3	1	16	dbSNP_129	23	6,8568		0,6,4281	no	coding-synonymous	TRIM72	NM_001008274.3		20,380,6079	CC,CG,GG		0.07,9.4434,3.2412		302/478	31235548	420,12538	2192	4287	6479	SO:0001819	synonymous_variant	493829	exon7			GAGCCTGGTGGTG	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.906G>C	16.37:g.31235548G>C		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	33	10	0.30303	NM_001008274		Silent	SNP	ENST00000322122.3	37	CCDS32437.1																																																																																			G|0.966;C|0.034	0.034	strong		0.677	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		C	31235548	G	C	31235548	2	2	22	1	0	0	0	0	0	0	0	1	16542	1335	47	4		4	TRIM72	16	31235548	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41600	31235548	59119205	8215	13323										
ITGAM	3684	hgsc.bcm.edu	37	chr16	31276811	31276811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctcatgcgagcccatccGcctgcagggtgagtcactgc	13	14	2	1	rs1143679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31276811G>A	ENST00000287497.8	+	3	305	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RNU7-199P_ENST00000517067.1_RNA|ITGAM_ENST00000544665.3_Missense_Mutation_p.R77H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	77			R -> H (influences susceptibility to SLE; dbSNP:rs1143679). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18204448}.		activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCATCCGCCTGCAGGGT	0.632													G|||	426	0.0850639	0.1203	0.0893	5008	,	,		15680	0.0149		0.1312	False		,,,				2504	0.0593				p.R77H		Atlas-SNP	.											.	ITGAM	137	.	0			c.G230A	GRCh37	CM080418	ITGAM	M	rs1143679	PASS	.	G	HIS/ARG,HIS/ARG	375,3739		20,335,1702	12	14	13	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	230,230	-9.3	0	16	dbSNP_86	13	958,7490		66,826,3332	yes	missense,missense	ITGAM	NM_000632.3,NM_001145808.1	29,29	86,1161,5034	AA,AG,GG		11.34,9.1152,10.6114	possibly-damaging,possibly-damaging	77/1153,77/1154	31276811	1333,11229	2057	4224	6281	SO:0001583	missense	3684	exon3			CCATCCGCCTGCA	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.230G>A	16.37:g.31276811G>A	ENSP00000287497:p.Arg77His	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	115	50	0.434783	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	192	0.08791208791208792	59	0.11991869918699187	31	0.0856353591160221	1	0.0017482517482517483	101	0.13324538258575197	G	11.69	1.714788	0.30413	0.091152	0.1134	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.72615	-0.67;-0.67	5.03	-9.33	0.00639	.	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06162	-1.0842	9	0.41790	T	0.15	.	6.0249	0.19650	0.2214:0.5921:0.1048:0.0817	rs1143679;rs17362505	77	P11215	ITAM_HUMAN	H	77	ENSP00000441691:R77H;ENSP00000287497:R77H	ENSP00000287497:R77H	R	+	2	0	ITGAM	31184312	0.000000	0.05858	0.018000	0.16275	0.894000	0.52154	-1.319000	0.02702	-2.349000	0.00618	-0.140000	0.14226	CGC	G|0.914;A|0.086	0.086	strong		0.632	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31276811	G	A	31276811	3	1	22	1	0	0	0	0	1	0	0	0	7887	1087	38	1	240	1	ITGAM	16	31276811	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	41263	31276811	59077942	8216	13324										
ITGAM	3684	hgsc.bcm.edu	37	chr16	31289396	31289396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcaggcagaacactggcaTgtgggagtccaacgctaatg	13	9	1	1	rs1143680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31289396T>C	ENST00000287497.8	+	12	1397	c.1322T>C	c.(1321-1323)aTg>aCg	p.M441T	ITGAM_ENST00000544665.3_Missense_Mutation_p.M441T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	441			M -> T (in dbSNP:rs11861251). {ECO:0000269|PubMed:15489334}.		activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AACACTGGCATGTGGGAGTCC	0.572													T|||	466	0.0930511	0.1876	0.0692	5008	,	,		17377	0.003		0.1302	False		,,,				2504	0.0368				p.M441T		Atlas-SNP	.											.	ITGAM	137	.	0			c.T1322C						PASS	.	T	THR/MET,THR/MET	728,3420		65,598,1411	53	54	54		1322,1322	-0.1	0	16	dbSNP_120	54	1270,7150		97,1076,3037	yes	missense,missense	ITGAM	NM_000632.3,NM_001145808.1	81,81	162,1674,4448	CC,CT,TT		15.0831,17.5506,15.8975	benign,benign	441/1153,441/1154	31289396	1998,10570	2074	4210	6284	SO:0001583	missense	3684	exon12			CTGGCATGTGGGA	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1322T>C	16.37:g.31289396T>C	ENSP00000287497:p.Met441Thr	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	152	93	0.611842	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	228	0.1043956043956044	104	0.21138211382113822	26	0.0718232044198895	1	0.0017482517482517483	97	0.1279683377308707	T	0.426	-0.905663	0.02453	0.175506	0.150831	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.10860	2.83;2.83	4.44	-0.0783	0.13715	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45731	-0.9241	8	0.12103	T	0.63	.	3.7061	0.08401	0.0:0.4606:0.1859:0.3535	rs11861251;rs52822161;rs58631826;rs11861251	441;441	Q4VAK1;P11215	.;ITAM_HUMAN	T	441	ENSP00000441691:M441T;ENSP00000287497:M441T	ENSP00000287497:M441T	M	+	2	0	ITGAM	31196897	0.000000	0.05858	0.017000	0.16124	0.066000	0.16364	-1.014000	0.03641	-0.078000	0.12730	-0.366000	0.07423	ATG	T|0.871;C|0.129	0.129	strong		0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		C	31289396	T	C	31289396	3	2	22	1	0	0	0	0	1	0	0	0	7887	1464	51	2	1368	2	ITGAM	16	31289396	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12585	31289396	59065357	8217	13325										
ITGAX	3687	hgsc.bcm.edu	37	chr16	31371674	31371674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggggcccgtagggatgccGccaaaattctcattgtcatc	11	11	2	0	rs2230428	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31371674G>A	ENST00000268296.4	+	8	872	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	ITGAX_ENST00000562522.1_Missense_Mutation_p.A251T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	251	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		A -> T (in dbSNP:rs2230428). {ECO:0000269|PubMed:2303426, ECO:0000269|PubMed:3327687}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TAGGGATGCCGCCAAAATTCT	0.522													G|||	413	0.0824681	0.1067	0.0605	5008	,	,		18946	0.006		0.164	False		,,,				2504	0.0603				p.A251T		Atlas-SNP	.											ITGAX,colon,carcinoma,0,1	ITGAX	198	1	0			c.G751A						PASS	.	G	THR/ALA	476,3918	224.6+/-240.7	21,434,1742	103	107	105		751	1.1	1	16	dbSNP_98	105	1618,6982	301.0+/-305.2	158,1302,2840	yes	missense	ITGAX	NM_000887.3	58	179,1736,4582	AA,AG,GG		18.814,10.833,16.1151	benign	251/1164	31371674	2094,10900	2197	4300	6497	SO:0001583	missense	3687	exon8			GATGCCGCCAAAA	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.751G>A	16.37:g.31371674G>A	ENSP00000268296:p.Ala251Thr	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	182	82	0.450549	NM_000887	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	222	0.10164835164835165	61	0.12398373983739837	25	0.06906077348066299	2	0.0034965034965034965	134	0.17678100263852242	G	3.517	-0.098475	0.07010	0.10833	0.18814	ENSG00000140678	ENST00000268296	D	0.82984	-1.67	4.73	1.14	0.20703	von Willebrand factor, type A (3);	.	.	.	.	T	0.00109	0.0003	N	0.01761	-0.735	0.43226	P	0.004882999999999971	B	0.06786	0.001	B	0.01281	0.0	T	0.05733	-1.0867	8	0.02654	T	1	.	5.7375	0.18075	0.7138:0.0:0.0978:0.1884	rs2230428;rs3087446;rs12928508;rs56605064;rs2230428	251	P20702	ITAX_HUMAN	T	251	ENSP00000268296:A251T	ENSP00000268296:A251T	A	+	1	0	ITGAX	31279175	1.000000	0.71417	0.999000	0.59377	0.217000	0.24651	2.344000	0.44010	0.063000	0.16370	-0.312000	0.09012	GCC	G|0.860;A|0.140	0.140	strong		0.522	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31371674	G	A	31371674	3	1	22	1	0	0	0	0	1	0	0	0	7889	1087	38	1	781	1	ITGAX	16	31371674	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82278	31371674	58983079	8218	13326										
ITGAX	3687	hgsc.bcm.edu	37	chr16	31382464	31382464	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgggcaggcactgagcggGggtcaagacctcacccagga	15	11	2	2	rs2230426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31382464G>C	ENST00000268296.4	+	15	1891	c.1770G>C	c.(1768-1770)ggG>ggC	p.G590G	ITGAX_ENST00000562522.1_Silent_p.G590G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	590					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACTGAGCGGGGGTCAAGACC	0.637													G|||	223	0.0445288	0.1619	0.0115	5008	,	,		17382	0.0		0.001	False		,,,				2504	0.0				p.G590G		Atlas-SNP	.											.	ITGAX	198	.	0			c.G1770C						PASS	.	G		552,3842	239.0+/-250.2	39,474,1684	60	66	64		1770	2.3	1	16	dbSNP_98	64	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ITGAX	NM_000887.3		39,479,5979	CC,CG,GG		0.0581,12.5626,4.2866		590/1164	31382464	557,12437	2197	4300	6497	SO:0001819	synonymous_variant	3687	exon15			GAGCGGGGGTCAA	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1770G>C	16.37:g.31382464G>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	77	36	0.467532	NM_000887	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																			G|0.961;C|0.039	0.039	strong		0.637	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		C	31382464	G	C	31382464	2	2	22	1	0	0	0	0	0	0	0	1	7889	1219	43	4		4	ITGAX	16	31382464	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10790	31382464	58972289	8219	13327										
ITGAD	3681	hgsc.bcm.edu	37	chr16	31422071	31422071	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaggttactccaccgagCtagccctgtggaagggggta	13	12	1	0	rs142278416	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31422071C>G	ENST00000389202.2	+	12	1277	c.1228C>G	c.(1228-1230)Cta>Gta	p.L410V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	410					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCCACCGAGCTAGCCCTGTG	0.667													c|||	38	0.00758786	0.0265	0.0043	5008	,	,		7588	0.0		0.0	False		,,,				2504	0.0				p.L410V		Atlas-SNP	.											.	ITGAD	154	.	0			c.C1228G						PASS	.	C	VAL/LEU	110,4284		2,106,2089	28	30	29		1228	1	0	16	dbSNP_134	29	1,8597		0,1,4298	yes	missense	ITGAD	NM_005353.2	32	2,107,6387	GG,GC,CC		0.0116,2.5034,0.8544	benign	410/1162	31422071	111,12881	2197	4299	6496	SO:0001583	missense	3681	exon12			ACCGAGCTAGCCC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1228C>G	16.37:g.31422071C>G	ENSP00000373854:p.Leu410Val	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	190	89	0.468421	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	14	0.00641025641025641	13	0.026422764227642278	1	0.0027624309392265192	0	0.0	0	0.0	c	0.001	-2.980833	0.00046	0.025034	1.16E-4	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.15139	2.45	4.4	1.04	0.20106	.	.	.	.	.	T	0.01387	0.0045	N	0.01446	-0.86	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.40232	-0.9574	9	0.02654	T	1	.	7.4596	0.27287	0.0:0.3542:0.5324:0.1134	.	426;410	Q59H14;Q13349	.;ITAD_HUMAN	V	426;410	ENSP00000373854:L410V	ENSP00000373854:L410V	L	+	1	2	ITGAD	31329572	0.949000	0.32298	0.037000	0.18230	0.014000	0.08584	-0.348000	0.07740	0.286000	0.22352	0.197000	0.17608	CTA	C|0.991;G|0.009	0.009	strong		0.667	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		G	31422071	C	G	31422071	3	3	22	1	0	0	0	0	1	0	0	0	7884	796	28	4	1274	4	ITGAD	16	31422071	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39607	31422071	58932682	8220	13328										
ITGAD	3681	hgsc.bcm.edu	37	chr16	31422531	31422531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtccgtgtgtcccttgccTaggggggtgagtggctgatg	18	8	0	2	rs368058587		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31422531T>C	ENST00000389202.2	+	13	1540	c.1491T>C	c.(1489-1491)ccT>ccC	p.P497P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	497					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCCCTTGCCTAGGGGGGTGA	0.627													t|||	1	0.000199681	0.0008	0.0	5008	,	,		15986	0.0		0.0	False		,,,				2504	0.0				p.P497P		Atlas-SNP	.											.	ITGAD	154	.	0			c.T1491C						PASS	.	T		2,4392	4.2+/-10.8	0,2,2195	82	79	80		1491	0.8	0.1	16		80	0,8600		0,0,4300	no	coding-synonymous	ITGAD	NM_005353.2		0,2,6495	CC,CT,TT		0.0,0.0455,0.0154		497/1162	31422531	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	3681	exon13			CTTGCCTAGGGGG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1491T>C	16.37:g.31422531T>C		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	229	104	0.454148	NM_005353	Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	CCDS32438.1																																																																																			.	.	weak		0.627	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		C	31422531	T	C	31422531	2	2	22	1	0	0	0	0	0	0	0	1	7884	1509	53	3		3	ITGAD	16	31422531	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	460	31422531	58932222	8221	13329										
ITGAD	3681	hgsc.bcm.edu	37	chr16	31429479	31429479	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaagaagcagccgctgcagTgtcaaccaccccatcttcca	7	16	2	1	rs78517822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31429479T>C	ENST00000389202.2	+	21	2632	c.2583T>C	c.(2581-2583)agT>agC	p.S861S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	861					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCGCTGCAGTGTCAACCACC	0.572													c|||	265	0.0529153	0.1906	0.0173	5008	,	,		17653	0.0		0.001	False		,,,				2504	0.0				p.S861S		Atlas-SNP	.											.	ITGAD	154	.	0			c.T2583C						PASS	.	C		752,3642	754.3+/-412.4	67,618,1512	140	132	135		2583	4.1	0.8	16	dbSNP_132	135	12,8588	818.8+/-406.8	0,12,4288	no	coding-synonymous	ITGAD	NM_005353.2		67,630,5800	CC,CT,TT		0.1395,17.1142,5.8796		861/1162	31429479	764,12230	2197	4300	6497	SO:0001819	synonymous_variant	3681	exon21			CTGCAGTGTCAAC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2583T>C	16.37:g.31429479T>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	205	96	0.468293	NM_005353	Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	CCDS32438.1																																																																																			T|0.947;C|0.053	0.053	strong		0.572	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		C	31429479	T	C	31429479	2	2	22	1	0	0	0	0	0	0	0	1	7884	1693	59	2		2	ITGAD	16	31429479	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6948	31429479	58925274	8222	13330										
ARMC5	79798	hgsc.bcm.edu	37	chr16	31477442	31477442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcttctggagcagggtggTctccggctcctccttgcggc	14	14	2	0	rs116201073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31477442T>C	ENST00000563544.1	+	7	2586	c.2040T>C	c.(2038-2040)ggT>ggC	p.G680G	ARMC5_ENST00000412665.2_Silent_p.G324G|ARMC5_ENST00000408912.3_Silent_p.G775G|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.G680G|ARMC5_ENST00000538189.1_Silent_p.G712G			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	680										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCAGGGTGGTCTCCGGCTCC	0.647													C|||	122	0.024361	0.0893	0.0058	5008	,	,		15259	0.0		0.0	False		,,,				2504	0.0				p.G680G		Atlas-SNP	.											ARMC5,NS,carcinoma,0,1	ARMC5	94	1	0			c.T2040C						scavenged	.	C	,	253,3943		8,237,1853	31	36	34		2040,	3	1	16	dbSNP_132	34	1,8425		0,1,4212	no	coding-synonymous,utr-3	ARMC5	NM_001105247.1,NM_024742.2	,	8,238,6065	CC,CT,TT		0.0119,6.0296,2.0124	,	680/936,	31477442	254,12368	2098	4213	6311	SO:0001819	synonymous_variant	79798	exon6			GGGTGGTCTCCGG	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2040T>C	16.37:g.31477442T>C		Somatic	56	1	0.0178571		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_001105247	Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	CCDS45472.1																																																																																			T|0.974;C|0.026	0.026	strong		0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		C	31477442	T	C	31477442	2	2	22	1	0	0	0	0	0	0	0	1	954	1654	58	2		2	ARMC5	16	31477442	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47963	31477442	58877311	8223	13331										
ARMC5	79798	hgsc.bcm.edu	37	chr16	31477795	31477795	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcgaggtctgtcgcctgGtgcagcctggcctgtcctgc	14	15	1	0	rs115611533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31477795G>C	ENST00000563544.1	+	7	2939	c.2393G>C	c.(2392-2394)gGt>gCt	p.G798A	ARMC5_ENST00000412665.2_Missense_Mutation_p.G442A|ARMC5_ENST00000408912.3_Missense_Mutation_p.G893A|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Missense_Mutation_p.G798A|ARMC5_ENST00000538189.1_Missense_Mutation_p.G830A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	798	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGTCGCCTGGTGCAGCCTGG	0.687													g|||	41	0.0081869	0.0287	0.0043	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.0				p.G798A		Atlas-SNP	.											.	ARMC5	94	.	0			c.G2393C						PASS	.		ALA/GLY,	94,3996		2,90,1953	29	35	33		2393,	4.7	0.3	16	dbSNP_132	33	1,8347		0,1,4173	yes	missense,utr-3	ARMC5	NM_001105247.1,NM_024742.2	60,	2,91,6126	CC,CG,GG		0.012,2.2983,0.7638	benign,	798/936,	31477795	95,12343	2045	4174	6219	SO:0001583	missense	79798	exon6			CGCCTGGTGCAGC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2393G>C	16.37:g.31477795G>C	ENSP00000456877:p.Gly798Ala	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_001105247	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	g	0.136	-1.108013	0.01813	0.022983	1.2E-4	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.64	4.69	0.59074	BTB/POZ-like (1);BTB/POZ fold (1);	0.393509	0.28549	N	0.014953	T	0.22244	0.0536	N	0.13235	0.315	0.09310	N	1	B;B;B;B	0.22800	0.031;0.031;0.075;0.015	B;B;B;B	0.20184	0.028;0.028;0.017;0.012	T	0.07214	-1.0784	10	0.10377	T	0.69	-26.6313	12.3369	0.55073	0.0816:0.0:0.9184:0.0	.	830;830;893;798	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	A	893;830;798;442	ENSP00000386125:G893A;ENSP00000443995:G830A;ENSP00000268314:G798A;ENSP00000400183:G442A	ENSP00000268314:G798A	G	+	2	0	ARMC5	31385296	0.704000	0.27836	0.271000	0.24616	0.056000	0.15407	4.288000	0.59007	1.389000	0.46526	0.546000	0.68486	GGT	G|0.992;C|0.008	0.008	strong		0.687	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		C	31477795	G	C	31477795	3	2	22	1	0	0	0	0	1	0	0	0	954	1261	44	4	2729	4	ARMC5	16	31477795	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	353	31477795	58876958	8224	13332										
SLC5A2	6524	hgsc.bcm.edu	37	chr16	31501642	31501642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctcagagccccaggcccCggcaccaagcctcttccgcc	8	22	2	1	rs61746400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31501642C>T	ENST00000330498.3	+	14	1824	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	602					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCCCAGGCCCCGGCACCAAGC	0.632													c|||	44	0.00878594	0.0325	0.0014	5008	,	,		16541	0.0		0.0	False		,,,				2504	0.0				p.P602L		Atlas-SNP	.											.	SLC5A2	58	.	0			c.C1805T						PASS	.	T	LEU/PRO,	75,4319		2,71,2124	16	18	18		1805,	-0.1	0	16	dbSNP_129	18	0,8600		0,0,4300	yes	missense,utr-3	SLC5A2,C16orf58	NM_003041.3,NM_022744.2	98,	2,71,6424	TT,TC,CC		0.0,1.7069,0.5772	benign,	602/673,	31501642	75,12919	2197	4300	6497	SO:0001583	missense	6524	exon14			AGGCCCCGGCACC		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1805C>T	16.37:g.31501642C>T	ENSP00000327943:p.Pro602Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	31	0.413333	NM_003041	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	c	3.253	-0.152863	0.06585	0.017069	0.0	ENSG00000140675	ENST00000330498	D	0.91740	-2.9	5.22	-0.0727	0.13738	.	1.172050	0.06093	N	0.663966	T	0.68118	0.2966	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65903	-0.6055	10	0.49607	T	0.09	.	8.1774	0.31289	0.0:0.5827:0.0:0.4173	rs61746400	602	P31639	SC5A2_HUMAN	L	602	ENSP00000327943:P602L	ENSP00000327943:P602L	P	+	2	0	SLC5A2	31409143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.493000	0.22451	-0.230000	0.09840	-0.993000	0.02533	CCG	C|0.992;T|0.008	0.008	strong		0.632	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			T	31501642	C	T	31501642	3	4	22	1	0	0	0	0	1	0	0	0	14665	652	23	1	1859	1	SLC5A2	16	31501642	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23847	31501642	58853111	8225	13333										
C16orf58	64755	hgsc.bcm.edu	37	chr16	31505252	31505252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccgccaggttcaccagCgtctcctggaaaatggcaga	11	14	2	1	rs34231527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31505252C>T	ENST00000327237.2	-	7	747	c.708G>A	c.(706-708)acG>acA	p.T236T	C16orf58_ENST00000570164.1_Silent_p.T236T|C16orf58_ENST00000567994.1_Silent_p.T191T|C16orf58_ENST00000430477.2_Silent_p.T94T			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	236						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GGTTCACCAGCGTCTCCTGGA	0.622													C|||	36	0.0071885	0.025	0.0043	5008	,	,		16051	0.0		0.0	False		,,,				2504	0.0				p.S236S		Atlas-SNP	.											.	C16orf58	28	.	0			c.C708A						PASS	.	C		101,4291	76.8+/-115.0	1,99,2096	34	36	36		708	-6.7	0.8	16	dbSNP_126	36	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	C16orf58	NM_022744.2		1,100,6395	TT,TC,CC		0.0116,2.2996,0.7851		236/469	31505252	102,12890	2196	4300	6496	SO:0001819	synonymous_variant	64755	exon7			CACCAGCGTCTCC	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.708G>A	16.37:g.31505252C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_022744	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	ENST00000327237.2	37	CCDS10715.1																																																																																			C|0.991;T|0.009	0.009	strong		0.622	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		T	31505252	C	T	31505252	2	4	22	1	0	0	0	0	0	0	0	1	1822	755	27	1		1	C16orf58	16	31505252	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3610	31505252	58849501	8226	13334										
C16orf58	64755	hgsc.bcm.edu	37	chr16	31519174	31519174	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactgcctgggtggctaggGagccggagaggctggaagca	19	8	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31519174G>C	ENST00000327237.2	-	2	365	c.326C>G	c.(325-327)tCc>tGc	p.S109C	C16orf58_ENST00000570164.1_Missense_Mutation_p.S109C|RP11-452L6.7_ENST00000569782.1_RNA|C16orf58_ENST00000567994.1_Missense_Mutation_p.S64C|C16orf58_ENST00000430477.2_Intron			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	109						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GGTGGCTAGGGAGCCGGAGAG	0.587																																					p.G109G		Atlas-SNP	.											.	C16orf58	28	.	0			c.G326G						PASS	.						32	27	29					16																	31519174		2189	4291	6480	SO:0001583	missense	64755	exon2			GCTAGGGAGCCGG	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.326C>G	16.37:g.31519174G>C	ENSP00000317579:p.Ser109Cys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_022744	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	ENST00000327237.2	37	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018996	0.93462	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442	T	0.43294	0.95	5.45	5.45	0.79879	.	0.158717	0.56097	D	0.000026	T	0.59905	0.2228	M	0.74881	2.28	0.80722	D	1	P	0.45531	0.86	P	0.55667	0.781	T	0.62817	-0.6774	10	0.66056	D	0.02	-3.0354	14.7866	0.69808	0.0:0.0:1.0:0.0	.	109	Q96GQ5	CP058_HUMAN	C	109;63;109	ENSP00000317579:S109C	ENSP00000317579:S109C	S	-	2	0	C16orf58	31426675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.068000	0.76748	2.559000	0.86315	0.655000	0.94253	TCC	.	.	none		0.587	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		C	31519174	G	C	31519174	3	2	22	1	0	0	0	0	1	0	0	0	1822	1174	41	4	1128	4	C16orf58	16	31519174	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13922	31519174	58835579	8227	13335										
AHSP	51327	hgsc.bcm.edu	37	chr16	31539934	31539934	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcaagagctgaacactctGgccaaccctttcctggccaa	9	15	1	2	rs17677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:31539934G>T	ENST00000302312.4	+	3	334	c.231G>T	c.(229-231)ctG>ctT	p.L77L	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	77					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						TGAACACTCTGGCCAACCCTT	0.587													G|||	1590	0.317492	0.4667	0.1311	5008	,	,		18109	0.2222		0.1541	False		,,,				2504	0.5143				p.L77L		Atlas-SNP	.											.	AHSP	10	.	0			c.G231T						PASS	.	G		1786,2608	525.5+/-371.6	374,1038,785	63	57	59		231	1	0	16	dbSNP_63	59	1411,7189	270.7+/-289.1	121,1169,3010	no	coding-synonymous	AHSP	NM_016633.2		495,2207,3795	TT,TG,GG		16.407,40.6463,24.6037		77/103	31539934	3197,9797	2197	4300	6497	SO:0001819	synonymous_variant	51327	exon3			CACTCTGGCCAAC	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.231G>T	16.37:g.31539934G>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_016633	Q8TD01	Silent	SNP	ENST00000302312.4	37	CCDS10716.1																																																																																			G|0.755;T|0.245	0.245	strong		0.587	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		T	31539934	G	T	31539934	2	4	22	1	0	0	0	0	0	0	0	1	421	1335	47	4		4	AHSP	16	31539934	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20760	31539934	58814819	8228	13336										
PHKB	5257	hgsc.bcm.edu	37	chr16	47697618	47697618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatcacattgagagagtctAtagaagagctggcagccaaa	11	7	2	5	rs16945474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:47697618A>G	ENST00000323584.5	+	24	2333	c.2309A>G	c.(2308-2310)tAt>tGt	p.Y770C	PHKB_ENST00000299167.8_Missense_Mutation_p.Y770C|PHKB_ENST00000566044.1_Missense_Mutation_p.Y763C|PHKB_ENST00000455779.1_Missense_Mutation_p.Y763C	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	770	Calmodulin-binding. {ECO:0000255}.		Y -> C (in dbSNP:rs16945474). {ECO:0000269|PubMed:12825073, ECO:0000269|PubMed:9326319}.		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)				GAGAGAGTCTATAGAAGAGCT	0.333													A|||	324	0.0646965	0.1649	0.0375	5008	,	,		18074	0.0149		0.0368	False		,,,				2504	0.0286				p.Y770C		Atlas-SNP	.											PHKB_ENST00000323584,NS,carcinoma,0,3	PHKB	298	3	0			c.A2309G	GRCh37	CM031328	PHKB	M	rs16945474	PASS	.	A	CYS/TYR,CYS/TYR	671,3731	285.2+/-278.0	50,571,1580	227	204	212	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2309,2288	5.7	1	16	dbSNP_123	212	375,8225	123.1+/-182.0	9,357,3934	yes	missense,missense	PHKB	NM_000293.2,NM_001031835.2	194,194	59,928,5514	GG,GA,AA		4.3605,15.2431,8.0449	possibly-damaging,possibly-damaging	770/1094,763/1087	47697618	1046,11956	2201	4300	6501	SO:0001583	missense	5257	exon24			GAGTCTATAGAAG		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.2309A>G	16.37:g.47697618A>G	ENSP00000313504:p.Tyr770Cys	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	234	108	0.461538	NM_000293	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	129	0.059065934065934064	80	0.16260162601626016	18	0.049723756906077346	4	0.006993006993006993	27	0.03562005277044855	A	20.4	3.992193	0.74703	0.152431	0.043605	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91407	-2.84;-2.84	5.73	5.73	0.89815	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	T	0.04497	0.0123	M	0.78223	2.4	0.09310	P	0.99999999996013	B;P	0.48350	0.413;0.909	P;B	0.46479	0.518;0.425	T	0.40478	-0.9561	9	0.54805	T	0.06	-23.0012	16.0152	0.80434	1.0:0.0:0.0:0.0	rs16945474;rs52820357;rs16945474	770;763	Q93100;Q93100-4	KPBB_HUMAN;.	C	763;763;770	ENSP00000414345:Y763C;ENSP00000313504:Y770C	ENSP00000299167:Y763C	Y	+	2	0	PHKB	46255119	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.569000	0.90744	2.180000	0.69256	0.533000	0.62120	TAT	A|0.929;G|0.071	0.071	strong		0.333	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			G	47697618	A	G	47697618	3	3	22	1	0	0	0	0	1	0	0	0	11845	449	16	2	2462	2	PHKB	16	47697618	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16157684	47697618	42657135	8229	13337										
ABCC12	94160	hgsc.bcm.edu	37	chr16	48145742	48145742	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcatagcgccctctctccTccattaactccttgtgggtt	7	14	1	0	rs34135219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48145742T>A	ENST00000311303.3	-	14	2414	c.2069A>T	c.(2068-2070)gAg>gTg	p.E690V	ABCC12_ENST00000448542.1_Missense_Mutation_p.E690V|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	690	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		E -> V (in dbSNP:rs34135219).			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)				CCCTCTCTCCTCCATTAACTC	0.458													T|||	249	0.0497204	0.1399	0.0159	5008	,	,		20912	0.0149		0.003	False		,,,				2504	0.0358				p.E690V		Atlas-SNP	.											.	ABCC12	190	.	0			c.A2069T						PASS	.	T	VAL/GLU	506,3896	237.7+/-249.4	28,450,1723	160	150	154		2069	3.1	1	16	dbSNP_126	154	33,8567	21.6+/-65.8	0,33,4267	yes	missense	ABCC12	NM_033226.2	121	28,483,5990	AA,AT,TT		0.3837,11.4948,4.1455	benign	690/1360	48145742	539,12463	2201	4300	6501	SO:0001583	missense	94160	exon14			CTCTCCTCCATTA	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.2069A>T	16.37:g.48145742T>A	ENSP00000311030:p.Glu690Val	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	235	118	0.502128	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	71	0.03250915750915751	62	0.12601626016260162	6	0.016574585635359115	3	0.005244755244755245	0	0.0	T	12.35	1.912301	0.33721	0.114948	0.003837	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.68331	-0.32;-0.32	5.56	3.08	0.35506	ABC transporter-like (1);	0.429810	0.26623	N	0.023346	T	0.00936	0.0031	L	0.55213	1.73	0.58432	D	0.999997	B	0.19445	0.036	B	0.22880	0.042	T	0.03060	-1.1077	10	0.45353	T	0.12	.	7.8142	0.29249	0.1333:0.0777:0.0:0.789	rs34135219;rs58143374	690	Q96J65	MRP9_HUMAN	V	690;690;632	ENSP00000311030:E690V;ENSP00000401855:E690V	ENSP00000311030:E690V	E	-	2	0	ABCC12	46703243	0.815000	0.29118	1.000000	0.80357	0.501000	0.33797	1.779000	0.38624	0.951000	0.37770	0.459000	0.35465	GAG	T|0.963;A|0.037	0.037	strong		0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48145742	T	A	48145742	3	1	22	1	0	0	0	0	1	0	0	0	52	1551	54	5	2074	5	ABCC12	16	48145742	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	448124	48145742	42209011	8230	13338										
ABCC12	94160	hgsc.bcm.edu	37	chr16	48174766	48174766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagggctatgcacagtccAatgccaacccagactttccc	7	14	0	1	rs16945872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48174766A>G	ENST00000311303.3	-	4	834	c.489T>C	c.(487-489)atT>atC	p.I163I	ABCC12_ENST00000448542.1_Silent_p.I163I|ABCC12_ENST00000416054.1_Silent_p.I163I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	163	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					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)				TGCACAGTCCAATGCCAACCC	0.537													a|||	189	0.0377396	0.1399	0.0058	5008	,	,		19380	0.0		0.0	False		,,,				2504	0.0				p.I163I		Atlas-SNP	.											.	ABCC12	190	.	0			c.T489C						PASS	.	A		477,3925	225.9+/-241.6	24,429,1748	98	96	97		489	-2.6	0	16	dbSNP_123	97	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	ABCC12	NM_033226.2		24,436,6041	GG,GA,AA		0.0814,10.836,3.7225		163/1360	48174766	484,12518	2201	4300	6501	SO:0001819	synonymous_variant	94160	exon4			CAGTCCAATGCCA	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.489T>C	16.37:g.48174766A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																			A|0.955;G|0.045	0.045	strong		0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		G	48174766	A	G	48174766	2	3	22	1	0	0	0	0	0	0	0	1	52	126	5	2		2	ABCC12	16	48174766	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29024	48174766	42179987	8231	13339										
ABCC12	94160	hgsc.bcm.edu	37	chr16	48175235	48175235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttctcaggacccacccttGctacctcttcatcccaaagg	5	18	3	0	rs16945874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48175235G>T	ENST00000311303.3	-	3	650	c.305C>A	c.(304-306)gCa>gAa	p.A102E	ABCC12_ENST00000448542.1_Missense_Mutation_p.A102E|ABCC12_ENST00000416054.1_Missense_Mutation_p.A102E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	102			A -> E (in dbSNP:rs16945874).			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)				ACCCACCCTTGCTACCTCTTC	0.498													T|||	728	0.145367	0.4297	0.0879	5008	,	,		21622	0.0		0.0875	False		,,,				2504	0.0112				p.A102E		Atlas-SNP	.											.	ABCC12	190	.	0			c.C305A						PASS	.	T	GLU/ALA	1552,2850	668.6+/-402.0	282,988,931	110	98	102		305	2.9	0.1	16	dbSNP_123	102	613,7987	791.9+/-407.5	20,573,3707	yes	missense	ABCC12	NM_033226.2	107	302,1561,4638	TT,TG,GG		7.1279,35.2567,16.6513	benign	102/1360	48175235	2165,10837	2201	4300	6501	SO:0001583	missense	94160	exon3			ACCCTTGCTACCT	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.305C>A	16.37:g.48175235G>T	ENSP00000311030:p.Ala102Glu	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	110	53	0.481818	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	298	0.13644688644688643	194	0.3943089430894309	39	0.10773480662983426	0	0.0	65	0.08575197889182058	T	2.421	-0.333064	0.05278	0.352567	0.071279	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.38	2.93	0.34026	ABC transporter, transmembrane domain, type 1 (1);	0.436542	0.25146	N	0.032792	T	0.00012	0.0000	L	0.28274	0.84	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.001;0.0	B;B	0.16289	0.015;0.001	T	0.41034	-0.9531	9	0.02654	T	1	.	7.8707	0.29565	0.0:0.081:0.3552:0.5638	rs16945874;rs52837329;rs59188678;rs16945874	102;102	Q96J65-2;Q96J65	.;MRP9_HUMAN	E	102	ENSP00000311030:A102E;ENSP00000401855:A102E;ENSP00000413046:A102E;ENSP00000436647:A102E	ENSP00000311030:A102E	A	-	2	0	ABCC12	46732736	0.009000	0.17119	0.085000	0.20634	0.334000	0.28698	0.911000	0.28584	0.438000	0.26450	-1.417000	0.01113	GCA	G|0.841;T|0.159	0.159	strong		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		T	48175235	G	T	48175235	3	4	22	1	0	0	0	0	1	0	0	0	52	1319	46	4	3882	4	ABCC12	16	48175235	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	469	48175235	42179518	8232	13340										
ABCC12	94160	hgsc.bcm.edu	37	chr16	48180311	48180311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctggtccagatctgagaTaaggtagggtccttcaccca	11	11	2	2	rs16945901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48180311T>G	ENST00000311303.3	-	1	370	c.25A>C	c.(25-27)Atc>Ctc	p.I9L	ABCC12_ENST00000448542.1_Missense_Mutation_p.I9L|ABCC12_ENST00000416054.1_Missense_Mutation_p.I9L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	9			I -> L (in dbSNP:rs16945901).			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)				AGATCTGAGATAAGGTAGGGT	0.552													T|||	189	0.0377396	0.1399	0.0058	5008	,	,		20637	0.0		0.0	False		,,,				2504	0.0				p.I9L		Atlas-SNP	.											.	ABCC12	190	.	0			c.A25C						PASS	.	T	LEU/ILE	477,3925	225.9+/-241.6	24,429,1748	108	96	100		25	5.4	1	16	dbSNP_123	100	7,8593	4.3+/-15.6	0,7,4293	yes	missense	ABCC12	NM_033226.2	5	24,436,6041	GG,GT,TT		0.0814,10.836,3.7225	possibly-damaging	9/1360	48180311	484,12518	2201	4300	6501	SO:0001583	missense	94160	exon1			CTGAGATAAGGTA	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.25A>C	16.37:g.48180311T>G	ENSP00000311030:p.Ile9Leu	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	128	63	0.492188	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	74	0.03388278388278388	72	0.14634146341463414	2	0.0055248618784530384	0	0.0	0	0.0	T	17.20	3.327928	0.60743	0.10836	8.14E-4	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.92911	-2.8;-3.04;-3.13;-2.66	5.41	5.41	0.78517	.	0.208161	0.39687	N	0.001292	T	0.01976	0.0062	N	0.25144	0.715	0.34860	P	0.257501	B;B	0.21821	0.061;0.007	B;B	0.16289	0.015;0.003	T	0.56914	-0.7900	9	0.02654	T	1	.	11.8356	0.52321	0.0:0.0:0.0:1.0	rs16945901;rs59437921;rs16945901	9;9	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	9	ENSP00000311030:I9L;ENSP00000401855:I9L;ENSP00000413046:I9L;ENSP00000436647:I9L	ENSP00000311030:I9L	I	-	1	0	ABCC12	46737812	0.989000	0.36119	0.994000	0.49952	0.960000	0.62799	1.976000	0.40579	2.022000	0.59522	0.496000	0.49642	ATC	T|0.955;G|0.045	0.045	strong		0.552	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		G	48180311	T	G	48180311	3	3	22	1	0	0	0	0	1	0	0	0	52	1406	49	5	4170	5	ABCC12	16	48180311	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5076	48180311	42174442	8233	13341										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48234214	48234214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgggtcaccaggacgacCgtcttccccctgagtgtctt	12	13	3	1	rs61745566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48234214C>T	ENST00000394747.1	-	14	2404	c.2055G>A	c.(2053-2055)acG>acA	p.T685T	ABCC11_ENST00000537808.1_Silent_p.T685T|ABCC11_ENST00000356608.2_Silent_p.T685T|ABCC11_ENST00000353782.5_Silent_p.T685T|ABCC11_ENST00000394748.1_Silent_p.T685T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	685	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCAGGACGACCGTCTTCCCCC	0.552													C|||	108	0.0215655	0.0787	0.0043	5008	,	,		17717	0.0		0.0	False		,,,				2504	0.001				p.T685T		Atlas-SNP	.											.	ABCC11	177	.	0			c.G2055A						PASS	.	C	,,	233,4169	140.0+/-175.5	7,219,1975	114	98	104		2055,2055,2055	-11.4	0	16	dbSNP_129	104	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	7,224,6270	TT,TC,CC		0.0581,5.293,1.8305	,,	685/1383,685/1383,685/1345	48234214	238,12764	2201	4300	6501	SO:0001819	synonymous_variant	85320	exon14			GACGACCGTCTTC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2055G>A	16.37:g.48234214C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	61	27	0.442623	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			C|0.980;T|0.020	0.020	strong		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48234214	C	T	48234214	2	4	22	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48234214	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53903	48234214	42120539	8234	13342										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48234381	48234381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagagaggttgaggccccGctctccaatctgcagacagg	12	14	2	3	rs41282045	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48234381G>A	ENST00000394747.1	-	14	2237	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	ABCC11_ENST00000537808.1_Missense_Mutation_p.R630W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R630W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R630W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R630W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	630	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TTGAGGCCCCGCTCTCCAATC	0.597													G|||	13	0.00259585	0.003	0.0043	5008	,	,		18082	0.0		0.004	False		,,,				2504	0.002				p.R630W		Atlas-SNP	.											.	ABCC11	177	.	0			c.C1888T						PASS	.	G	TRP/ARG,TRP/ARG,TRP/ARG	12,4390	19.1+/-41.9	0,12,2189	46	38	41		1888,1888,1888	1.2	1	16	dbSNP_127	41	61,8539	37.8+/-93.5	0,61,4239	yes	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	101,101,101	0,73,6428	AA,AG,GG		0.7093,0.2726,0.5615	probably-damaging,probably-damaging,probably-damaging	630/1383,630/1383,630/1345	48234381	73,12929	2201	4300	6501	SO:0001583	missense	85320	exon14			GGCCCCGCTCTCC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1888C>T	16.37:g.48234381G>A	ENSP00000378230:p.Arg630Trp	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	6	0.0027472527472527475	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	20.3	3.968770	0.74131	0.002726	0.007093	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.61	1.19	0.21007	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.067924	0.64402	N	0.000016	D	0.85375	0.5682	M	0.91561	3.22	0.80722	D	1	B;D	0.89917	0.333;1.0	B;D	0.97110	0.061;1.0	D	0.83707	0.0185	10	0.87932	D	0	-11.3458	4.1375	0.10178	0.1727:0.0:0.5052:0.3221	rs41282045	630;630	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	630	ENSP00000311326:R630W;ENSP00000349017:R630W;ENSP00000378231:R630W;ENSP00000378230:R630W;ENSP00000438530:R630W	ENSP00000311326:R630W	R	-	1	2	ABCC11	46791882	0.945000	0.32115	0.999000	0.59377	0.784000	0.44337	0.691000	0.25467	0.316000	0.23135	0.655000	0.94253	CGG	G|0.996;A|0.004	0.004	strong		0.597	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48234381	G	A	48234381	3	1	22	1	0	0	0	0	1	0	0	0	51	1086	38	1	2324	1	ABCC11	16	48234381	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	167	48234381	42120372	8235	13343										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48248918	48248918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgcacttctccaatagTttcctttccttccttcttag	4	15	2	0	rs8047091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48248918T>C	ENST00000394747.1	-	8	1471	c.1122A>G	c.(1120-1122)aaA>aaG	p.K374K	ABCC11_ENST00000537808.1_Silent_p.K374K|ABCC11_ENST00000356608.2_Silent_p.K374K|ABCC11_ENST00000353782.5_Silent_p.K374K|ABCC11_ENST00000394748.1_Silent_p.K374K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	374	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCTCCAATAGTTTCCTTTCCT	0.463													T|||	851	0.169928	0.3623	0.1455	5008	,	,		19216	0.0446		0.167	False		,,,				2504	0.0593				p.K374K		Atlas-SNP	.											.	ABCC11	177	.	0			c.A1122G						PASS	.	T	,,	1400,3002	461.7+/-353.0	228,944,1029	102	98	100		1122,1122,1122	-1.1	0	16	dbSNP_116	100	1337,7263	260.9+/-283.5	112,1113,3075	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	340,2057,4104	CC,CT,TT		15.5465,31.8037,21.0506	,,	374/1383,374/1383,374/1345	48248918	2737,10265	2201	4300	6501	SO:0001819	synonymous_variant	85320	exon8			CAATAGTTTCCTT	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1122A>G	16.37:g.48248918T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	123	120	0.97561	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			T|0.806;C|0.194	0.194	strong		0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		C	48248918	T	C	48248918	2	2	22	1	0	0	0	0	0	0	0	1	51	1722	60	2		2	ABCC11	16	48248918	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14537	48248918	42105835	8236	13344										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48250026	48250026	+	Splice_Site	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacagagaaagacattaccGccagtgggaaaaccaggaga					rs11863236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48250026G>T	ENST00000394747.1	-	6	1299	c.950C>A	c.(949-951)gCg>gAg	p.A317E	ABCC11_ENST00000537808.1_Splice_Site_p.A317E|ABCC11_ENST00000356608.2_Splice_Site_p.A317E|ABCC11_ENST00000353782.5_Splice_Site_p.A317E|ABCC11_ENST00000394748.1_Splice_Site_p.A317E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	317	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		A -> E (in dbSNP:rs11863236). {ECO:0000269|PubMed:11591886}.		organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGACATTACCGCCAGTGGGAA	0.473													T|||	646	0.128994	0.298	0.0893	5008	,	,		21675	0.0446		0.1014	False		,,,				2504	0.044				p.A317E		Atlas-SNP	.											.	ABCC11	177	.	0			c.C950A						PASS	.	T	GLU/ALA,GLU/ALA,GLU/ALA	1109,3293	717.2+/-408.7	141,827,1233	119	124	122		950,950,950	2.3	0.7	16	dbSNP_120	122	758,7842	785.3+/-407.6	29,700,3571	yes	missense-near-splice,missense-near-splice,missense-near-splice	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	107,107,107	170,1527,4804	TT,TG,GG		8.814,25.1931,14.3593	benign,benign,benign	317/1383,317/1383,317/1345	48250026	1867,11135	2201	4300	6501	SO:0001630	splice_region_variant	85320	exon6			ATTACCGCCAGTG	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.951+1C>A	16.37:g.48250026G>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	53	52	0.981132	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	260	0.11904761904761904	132	0.2682926829268293	37	0.10220994475138122	14	0.024475524475524476	77	0.10158311345646438	T	0.527	-0.859672	0.02610	0.251931	0.08814	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	4.67	2.31	0.28768	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.215586	0.39544	N	0.001328	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	9.99999999995449E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23619	-1.0183	9	0.36615	T	0.2	-7.7007	5.8459	0.18665	0.1607:0.0:0.3348:0.5044	rs11863236;rs52789697;rs11863236	317;317	Q96J66-2;Q96J66	.;ABCCB_HUMAN	E	317	ENSP00000311326:A317E;ENSP00000349017:A317E;ENSP00000378231:A317E;ENSP00000378230:A317E;ENSP00000438530:A317E	ENSP00000311326:A317E	A	-	2	0	ABCC11	46807527	0.999000	0.42202	0.706000	0.30403	0.030000	0.12068	1.236000	0.32683	-0.053000	0.13289	-0.256000	0.11100	GCG	G|0.864;T|0.136	0.136	strong		0.473	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Missense_Mutation	T	48250026	G	T	48250026	5	4	22	1	0	0	0	0	0	0	1	0	51	1101	38	4	3294	4	ABCC11	16	48250026	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1108	48250026	42104727	8237	13345	277	2								
ABCC11	85320	hgsc.bcm.edu	37	chr16	48250031	48250031	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaaagacattaccgccagTgggaaaaccaggagatagca					rs11860868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48250031T>C	ENST00000394747.1	-	6	1294	c.945A>G	c.(943-945)ccA>ccG	p.P315P	ABCC11_ENST00000356608.2_Silent_p.P315P|ABCC11_ENST00000353782.5_Silent_p.P315P|ABCC11_ENST00000394748.1_Silent_p.P315P|ABCC11_ENST00000537808.1_Silent_p.P315P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	315	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TTACCGCCAGTGGGAAAACCA	0.473													C|||	295	0.0589058	0.2156	0.013	5008	,	,		21846	0.0		0.001	False		,,,				2504	0.0				p.P315P		Atlas-SNP	.											.	ABCC11	177	.	0			c.A945G						PASS	.	C	,,	768,3634	752.7+/-412.3	65,638,1498	128	132	130		945,945,945	-6.8	0	16	dbSNP_120	130	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	65,642,5794	CC,CT,TT		0.0465,17.4466,5.9375	,,	315/1383,315/1383,315/1345	48250031	772,12230	2201	4300	6501	SO:0001819	synonymous_variant	85320	exon6			CGCCAGTGGGAAA	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.945A>G	16.37:g.48250031T>C		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			T|0.927;C|0.073	0.073	strong		0.473	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		C	48250031	T	C	48250031	2	2	22	1	0	0	0	0	0	0	0	1	51	1683	59	2		2	ABCC11	16	48250031	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	48250031	42104722	8238	13346	277	2								
ABCC11	85320	hgsc.bcm.edu	37	chr16	48256602	48256602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaacctgatggctgtgcgTtggttgatgatccaactgga	14	8	0	3	rs16945974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48256602T>C	ENST00000394747.1	-	5	1033	c.684A>G	c.(682-684)caA>caG	p.Q228Q	ABCC11_ENST00000537808.1_Silent_p.Q228Q|ABCC11_ENST00000356608.2_Silent_p.Q228Q|ABCC11_ENST00000353782.5_Silent_p.Q228Q|ABCC11_ENST00000394748.1_Silent_p.Q228Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	228	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGGCTGTGCGTTGGTTGATGA	0.478													C|||	672	0.134185	0.3132	0.098	5008	,	,		21621	0.0437		0.1024	False		,,,				2504	0.044				p.Q228Q		Atlas-SNP	.											.	ABCC11	177	.	0			c.A684G						PASS	.	C	,,	1156,3244	712.0+/-408.1	152,852,1196	122	112	115		684,684,684	-0.8	0.4	16	dbSNP_123	115	755,7845	785.4+/-407.6	29,697,3574	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	181,1549,4770	CC,CT,TT		8.7791,26.2727,14.7	,,	228/1383,228/1383,228/1345	48256602	1911,11089	2200	4300	6500	SO:0001819	synonymous_variant	85320	exon5			TGTGCGTTGGTTG	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.684A>G	16.37:g.48256602T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	193	193	1	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			T|0.854;C|0.146	0.146	strong		0.478	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		C	48256602	T	C	48256602	2	2	22	1	0	0	0	0	0	0	0	1	51	1722	60	2		2	ABCC11	16	48256602	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6571	48256602	42098151	8239	13347										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48265777	48265777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcgcctatgtcgatgccaCgattcacgaggccaccagaa	9	14	1	1	rs16945988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:48265777C>T	ENST00000394747.1	-	1	405	c.56G>A	c.(55-57)cGt>cAt	p.R19H	ABCC11_ENST00000537808.1_Missense_Mutation_p.R19H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R19H|ABCC11_ENST00000353782.5_Missense_Mutation_p.R19H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R19H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	19			R -> H (in dbSNP:rs16945988).		organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTCGATGCCACGATTCACGAG	0.453													C|||	551	0.110024	0.2458	0.0893	5008	,	,		16838	0.0188		0.1014	False		,,,				2504	0.044				p.R19H		Atlas-SNP	.											ABCC11,NS,carcinoma,-1,1	ABCC11	177	1	0			c.G56A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	921,3479	354.4+/-312.6	98,725,1377	267	224	239		56,56,56	4.1	0.7	16	dbSNP_123	239	742,7858	178.5+/-227.8	28,686,3586	yes	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	29,29,29	126,1411,4963	TT,TC,CC		8.6279,20.9318,12.7923	benign,benign,benign	19/1383,19/1383,19/1345	48265777	1663,11337	2200	4300	6500	SO:0001583	missense	85320	exon1			ATGCCACGATTCA	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.56G>A	16.37:g.48265777C>T	ENSP00000378230:p.Arg19His	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	264	141	0.534091	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	233	0.10668498168498168	114	0.23170731707317074	38	0.10497237569060773	5	0.008741258741258742	76	0.10026385224274406	C	10.62	1.400285	0.25291	0.209318	0.086279	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92699	-2.89;-2.8;-2.8;-2.8;-3.09	5.2	4.11	0.48088	.	0.101083	0.38326	N	0.001730	T	0.00109	0.0003	N	0.08118	0	0.50813	P	1.0399999999999299E-4	P;P	0.44044	0.825;0.733	B;B	0.30855	0.121;0.057	T	0.19418	-1.0306	9	0.44086	T	0.13	-8.9094	9.2096	0.37311	0.8156:0.1844:0.0:0.0	rs16945988;rs59476528;rs16945988	19;19	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	19	ENSP00000311326:R19H;ENSP00000349017:R19H;ENSP00000378231:R19H;ENSP00000378230:R19H;ENSP00000438530:R19H	ENSP00000311326:R19H	R	-	2	0	ABCC11	46823278	0.951000	0.32395	0.733000	0.30861	0.148000	0.21650	2.218000	0.42889	0.827000	0.34685	-0.280000	0.10049	CGT	C|0.880;T|0.120	0.120	strong		0.453	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48265777	C	T	48265777	3	4	22	1	0	0	0	0	1	0	0	0	51	536	19	1	4208	1	ABCC11	16	48265777	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9175	48265777	42088976	8240	13348										
CBLN1	869	hgsc.bcm.edu	37	chr16	49314837	49314837	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaggcgtcggctgacctgTatggtttgtctgttgtagac	14	8	1	2	rs61735589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:49314837T>G	ENST00000219197.6	-	2	746	c.381A>C	c.(379-381)atA>atC	p.I127I	CBLN1_ENST00000536749.1_Silent_p.I127I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	127	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GGCTGACCTGTATGGTTTGTC	0.587													G|||	291	0.058107	0.0976	0.0346	5008	,	,		17485	0.0595		0.0497	False		,,,				2504	0.0286				p.I127I		Atlas-SNP	.											.	CBLN1	26	.	0			c.A381C						PASS	.	G		408,3992	788.5+/-414.9	17,374,1809	113	120	118		381	0.1	1	16	dbSNP_129	118	543,8057	794.7+/-407.5	14,515,3771	no	coding-synonymous	CBLN1	NM_004352.3		31,889,5580	GG,GT,TT		6.314,9.2727,7.3154		127/194	49314837	951,12049	2200	4300	6500	SO:0001819	synonymous_variant	869	exon2			GACCTGTATGGTT	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.381A>C	16.37:g.49314837T>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	162	71	0.438272	NM_004352	B2RAN9|P02682|Q52M09	Silent	SNP	ENST00000219197.6	37	CCDS10736.1																																																																																			T|0.937;G|0.063	0.063	strong		0.587	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		G	49314837	T	G	49314837	2	3	22	1	0	0	0	0	0	0	0	1	2704	1628	57	5		5	CBLN1	16	49314837	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1049060	49314837	41039916	8241	13349										
ADCY7	113	hgsc.bcm.edu	37	chr16	50344627	50344627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctgtgtcctgggcttCatcgcctgctcggtcttcct	11	14	2	0	rs140505854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50344627C>T	ENST00000394697.2	+	19	2530	c.2190C>T	c.(2188-2190)ttC>ttT	p.F730F	ADCY7_ENST00000254235.3_Silent_p.F730F			P51828	ADCY7_HUMAN	adenylate cyclase 7	730					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCCTGGGCTTCATCGCCTGCT	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.0				p.F730F		Atlas-SNP	.											.	ADCY7	90	.	0			c.C2190T						PASS	.	C		4,4392	8.1+/-20.4	0,4,2194	107	78	88		2190	1.1	0.2	16	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	ADCY7	NM_001114.3		0,4,6494	TT,TC,CC		0.0,0.091,0.0308		730/1081	50344627	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	113	exon18			GGGCTTCATCGCC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2190C>T	16.37:g.50344627C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	142	71	0.5	NM_001114	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																			C|1.000;T|0.000	0.000	weak		0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			T	50344627	C	T	50344627	2	4	22	1	0	0	0	0	0	0	0	1	299	825	29	2		2	ADCY7	16	50344627	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1029790	50344627	40010126	8242	13350										
BRD7	29117	hgsc.bcm.edu	37	chr16	50368626	50368626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaagatcttttacttttTattttctttgctgggactct	5	9	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50368626T>C	ENST00000394688.3	-	7	1042	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E	BRD7_ENST00000394689.2_Missense_Mutation_p.K295E			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	295					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTTACTTTTTATTTTCTTTG	0.488																																					p.K295E		Atlas-SNP	.											.	BRD7	61	.	0			c.A883G						PASS	.						95	110	105					16																	50368626		2192	4296	6488	SO:0001583	missense	29117	exon7			ACTTTTTATTTTC	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.883A>G	16.37:g.50368626T>C	ENSP00000378180:p.Lys295Glu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	84	8	0.0952381	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058696	0.36277	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.52754	0.65;0.65	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.67953	2.075	0.47374	D	0.999409	B;B	0.27910	0.193;0.161	B;B	0.31442	0.13;0.079	T	0.45891	-0.9230	10	0.34782	T	0.22	.	14.6369	0.68696	0.0:0.0:0.0:1.0	.	295;295	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	E	295	ENSP00000378180:K295E;ENSP00000378181:K295E	ENSP00000378180:K295E	K	-	1	0	BRD7	48926127	1.000000	0.71417	0.995000	0.50966	0.266000	0.26442	4.022000	0.57203	2.254000	0.74563	0.528000	0.53228	AAA	.	.	none		0.488	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		C	50368626	T	C	50368626	3	2	22	1	0	0	0	0	1	0	0	0	1505	1763	61	2	1119	2	BRD7	16	50368626	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23999	50368626	39986127	8243	13351										
BRD7	29117	hgsc.bcm.edu	37	chr16	50368670	50368670	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgtgtgcttcggcatctCcagagtcctctctctctctc					rs113038433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50368670C>A	ENST00000394688.3	-	7	998	c.839G>T	c.(838-840)gGa>gTa	p.G280V	BRD7_ENST00000394689.2_Missense_Mutation_p.G280V			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	280					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCGGCATCTCCAGAGTCCTC	0.473													C|||	60	0.0119808	0.0431	0.0043	5008	,	,		17122	0.0		0.0	False		,,,				2504	0.0				p.G280V		Atlas-SNP	.											.	BRD7	61	.	0			c.G839T						PASS	.	C	VAL/GLY,VAL/GLY	129,4267	94.4+/-133.1	1,127,2070	138	142	141		839,839	4.4	0.4	16	dbSNP_132	141	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRD7	NM_001173984.2,NM_013263.4	109,109	1,128,6369	AA,AC,CC		0.0116,2.9345,1.0003	benign,benign	280/653,280/652	50368670	130,12866	2198	4300	6498	SO:0001583	missense	29117	exon7			GCATCTCCAGAGT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.839G>T	16.37:g.50368670C>A	ENSP00000378180:p.Gly280Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	192	59	0.307292	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	C	10.22	1.289343	0.23478	0.029345	1.16E-4	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.30448	1.54;1.53	5.47	4.41	0.53225	.	0.486780	0.23583	N	0.046637	T	0.02193	0.0068	N	0.08118	0	0.24366	N	0.994853	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.07121	-1.0789	10	0.27082	T	0.32	-13.1079	10.8718	0.46887	0.3081:0.6919:0.0:0.0	.	280;280	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	V	280	ENSP00000378180:G280V;ENSP00000378181:G280V	ENSP00000378180:G280V	G	-	2	0	BRD7	48926171	0.945000	0.32115	0.424000	0.26647	0.782000	0.44232	2.285000	0.43487	2.733000	0.93635	0.650000	0.86243	GGA	C|0.988;A|0.012	0.012	strong		0.473	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		A	50368670	C	A	50368670	3	1	22	1	0	0	0	0	1	0	0	0	1505	855	30	4	1163	4	BRD7	16	50368670	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44	50368670	39986083	8244	13352	278	2								
BRD7	29117	hgsc.bcm.edu	37	chr16	50368671	50368671	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtgtgcttcggcatctcCagagtcctctctctctctct							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50368671C>G	ENST00000394688.3	-	7	997	c.838G>C	c.(838-840)Gga>Cga	p.G280R	BRD7_ENST00000394689.2_Missense_Mutation_p.G280R			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	280					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCGGCATCTCCAGAGTCCTCT	0.473																																					p.G280R		Atlas-SNP	.											.	BRD7	61	.	0			c.G838C						PASS	.						138	142	141					16																	50368671		2198	4300	6498	SO:0001583	missense	29117	exon7			CATCTCCAGAGTC	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.838G>C	16.37:g.50368671C>G	ENSP00000378180:p.Gly280Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	194	58	0.298969	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	8.023	0.760146	0.15846	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.30981	1.51;1.51	5.47	3.42	0.39159	.	0.486780	0.23583	N	0.046637	T	0.18173	0.0436	L	0.29908	0.895	0.09310	N	1	B;P	0.35923	0.393;0.528	B;B	0.37943	0.133;0.261	T	0.10636	-1.0621	10	0.14252	T	0.57	-13.1079	5.4568	0.16594	0.1802:0.6543:0.0:0.1655	.	280;280	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	R	280	ENSP00000378180:G280R;ENSP00000378181:G280R	ENSP00000378180:G280R	G	-	1	0	BRD7	48926172	0.849000	0.29639	0.418000	0.26571	0.791000	0.44710	1.471000	0.35365	2.733000	0.93635	0.650000	0.86243	GGA	.	.	none		0.473	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		G	50368671	C	G	50368671	3	3	22	1	0	0	0	0	1	0	0	0	1505	603	21	4	1164	4	BRD7	16	50368671	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	50368671	39986082	8245	13353	278	2								
SNX20	124460	hgsc.bcm.edu	37	chr16	50709792	50709792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtactgctgaagctcccgCgtggtcatgctggagttgga	14	10	1	1	rs35435054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50709792C>T	ENST00000330943.4	-	3	342	c.171G>A	c.(169-171)acG>acA	p.T57T	SNX20_ENST00000423026.2_Silent_p.T57T|SNX20_ENST00000300590.3_Silent_p.T57T	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	57					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GAAGCTCCCGCGTGGTCATGC	0.552													C|||	70	0.0139776	0.0499	0.0043	5008	,	,		21120	0.0		0.001	False		,,,				2504	0.0				p.T57T		Atlas-SNP	.											SNX20_ENST00000300590,NS,carcinoma,-1,2	SNX20	50	2	0			c.G171A						PASS	.	C	,,	220,4176	132.1+/-168.6	5,210,1983	103	92	96		171,171,171	-11.3	0.1	16	dbSNP_126	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SNX20	NM_001144972.1,NM_153337.2,NM_182854.2	,,	5,211,6282	TT,TC,CC		0.0116,5.0045,1.7005	,,	57/103,57/130,57/317	50709792	221,12775	2198	4300	6498	SO:0001819	synonymous_variant	124460	exon3			CTCCCGCGTGGTC	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.171G>A	16.37:g.50709792C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_001144972	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	ENST00000330943.4	37	CCDS10745.1																																																																																			C|0.981;T|0.019	0.019	strong		0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		T	50709792	C	T	50709792	2	4	22	1	0	0	0	0	0	0	0	1	14892	755	27	1		1	SNX20	16	50709792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	341121	50709792	39644961	8246	13354										
NOD2	64127	hgsc.bcm.edu	37	chr16	50746191	50746191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgtgctgcagcacctccGgcggcccgtggccctgcagc	13	17	0	0	rs5743279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50746191G>A	ENST00000300589.2	+	4	2474	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	790			R -> Q (in dbSNP:rs5743279).		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R790L(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGCACCTCCGGCGGCCCGTG	0.607													G|||	51	0.0101837	0.0371	0.0029	5008	,	,		21469	0.0		0.0	False		,,,				2504	0.0				p.R790Q		Atlas-SNP	.											NOD2,colon,carcinoma,+1,2	NOD2	118	2	1	Substitution - Missense(1)	lung(1)	c.G2369A						PASS	.	G	GLN/ARG	149,4247	101.2+/-139.8	2,145,2051	95	88	90		2369	-0.2	1	16	dbSNP_114	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOD2	NM_022162.1	43	2,146,6350	AA,AG,GG		0.0116,3.3894,1.1542	benign	790/1041	50746191	150,12846	2198	4300	6498	SO:0001583	missense	64127	exon4			ACCTCCGGCGGCC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2369G>A	16.37:g.50746191G>A	ENSP00000300589:p.Arg790Gln	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	125	67	0.536	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	14	0.00641025641025641	13	0.026422764227642278	1	0.0027624309392265192	0	0.0	0	0.0	G	0.038	-1.298744	0.01364	0.033894	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.51817	0.69	5.3	-0.17	0.13335	.	0.234851	0.28983	N	0.013509	T	0.09774	0.0240	N	0.21194	0.64	0.09310	N	1	B;B;B	0.27166	0.002;0.17;0.039	B;B;B	0.19391	0.001;0.025;0.003	T	0.10042	-1.0647	10	0.20519	T	0.43	.	8.9611	0.35847	0.5027:0.0:0.4973:0.0	rs5743279;rs5743279	574;763;790	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	Q	763;790	ENSP00000300589:R790Q	ENSP00000300589:R790Q	R	+	2	0	NOD2	49303692	0.000000	0.05858	0.988000	0.46212	0.065000	0.16274	0.196000	0.17176	0.076000	0.16826	-0.254000	0.11334	CGG	G|0.989;A|0.011	0.011	strong		0.607	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		A	50746191	G	A	50746191	3	1	22	1	0	0	0	0	1	0	0	0	10517	1116	39	1	2383	1	NOD2	16	50746191	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36399	50746191	39608562	8247	13355										
CYLD	1540	hgsc.bcm.edu	37	chr16	50783696	50783696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcttcttcaagaatgcagCgttacagacaaacaaacaca	6	10	2	2	rs34564491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:50783696C>T	ENST00000427738.3	+	2	292	c.87C>T	c.(85-87)agC>agT	p.S29S	CYLD_ENST00000311559.9_Silent_p.S29S|CYLD_ENST00000540145.1_Silent_p.S29S|CYLD_ENST00000568704.2_Silent_p.S29S|CYLD_ENST00000566206.1_Silent_p.S29S|CYLD_ENST00000569418.1_Silent_p.S29S|CYLD_ENST00000398568.2_Silent_p.S29S|CYLD_ENST00000564326.1_Silent_p.S29S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	29					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGAATGCAGCGTTACAGACA	0.408			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				C|||	63	0.0125799	0.0446	0.0058	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0				p.S29S		Atlas-SNP	.	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	.	CYLD	150	.	0			c.C87T						PASS	.	C	,,	145,3565		2,141,1712	83	79	80		87,87,87	2	1	16	dbSNP_126	80	1,8179		0,1,4089	no	coding-synonymous,coding-synonymous,coding-synonymous	CYLD	NM_001042355.1,NM_001042412.1,NM_015247.2	,,	2,142,5801	TT,TC,CC		0.0122,3.9084,1.2279	,,	29/954,29/954,29/957	50783696	146,11744	1855	4090	5945	SO:0001819	synonymous_variant	1540	exon3	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	ATGCAGCGTTACA	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.87C>T	16.37:g.50783696C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	60	26	0.433333	NM_001042355	O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	CCDS45482.1																																																																																			C|0.991;T|0.009	0.009	strong		0.408	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			T	50783696	C	T	50783696	2	4	22	1	0	0	0	0	0	0	0	1	4143	767	27	1		1	CYLD	16	50783696	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37505	50783696	39571057	8248	13356										
SALL1	6299	hgsc.bcm.edu	37	chr16	51173823	51173823	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgtgaacttcttctggcaGatggggcaggaatgctggac	14	8	2	2	rs61740811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:51173823G>A	ENST00000251020.4	-	2	2343	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.I673I|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	770					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTTCTGGCAGATGGGGCAGG	0.567													G|||	201	0.0401358	0.1392	0.0231	5008	,	,		19398	0.0		0.001	False		,,,				2504	0.0				p.I770I	GBM(103;1352 1446 1855 4775 8890)	Atlas-SNP	.											.	SALL1	301	.	0			c.C2310T						PASS	.	G	,	539,3857	246.8+/-255.3	25,489,1684	86	90	89		2019,2310	4.2	1	16	dbSNP_129	89	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	25,493,5980	AA,AG,GG		0.0465,12.2611,4.1782	,	673/1228,770/1325	51173823	543,12453	2198	4300	6498	SO:0001819	synonymous_variant	6299	exon2			CTGGCAGATGGGG	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2310C>T	16.37:g.51173823G>A		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	228	114	0.5	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																			G|0.957;A|0.043	0.043	strong		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		A	51173823	G	A	51173823	2	1	22	1	0	0	0	0	0	0	0	1	13810	932	33	2		2	SALL1	16	51173823	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	390127	51173823	39180930	8249	13357										
SALL1	6299	hgsc.bcm.edu	37	chr16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagctgccgccgccgccINSgctgctgctgctgctgctgc					rs113614842|rs199760974|rs372299573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:51175655_51175656insGCT	ENST00000251020.4	-	2	510_511	c.477_478insAGC	c.(475-480)agcggc>agcAGCggc	p.159_160insS	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Ins_p.62_63insS	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Gly.|Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629																																					p.G160delinsSG	GBM(103;1352 1446 1855 4775 8890)	Atlas-Indel	.											.	SALL1	301	.	0			c.478_479insAGC						PASS	.																																			SO:0001652	inframe_insertion	6299	exon2			.	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477dupAGC	16.37:g.51175662_51175664dupGCT	ENSP00000251020:p.Ser159_Ser159dup	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	147	32	0.217687	NM_002968	Q99881|Q9NSC3|Q9P1R0	In_Frame_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																			-|0.500;GCC|0.250;GCT|0.250	0.250	strong		0.629	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		GCT	51175656	-	GCT	51175655	7	5	22	1	0	1	1	0	0	0	0	0	13810	652	23	0	3504	0	SALL1	16	51175655	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1832	51175655	39179098	8250	13358										
TOX3	27324	hgsc.bcm.edu	37	chr16	52478206	52478206	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttagaaacgaggctggcCctgtatgccgccagggcctt					rs3743796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:52478206C>T	ENST00000219746.9	-	6	1253	c.969G>A	c.(967-969)agG>agA	p.R323R	TOX3_ENST00000407228.3_Silent_p.R318R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	323					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R323R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGAGGCTGGCCCTGTATGCCG	0.468													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15347	0.1488		0.0984	False		,,,				2504	0.1391				p.R323R		Atlas-SNP	.											TOX3_ENST00000407228,caecum,carcinoma,-1,3	TOX3	121	3	1	Substitution - coding silent(1)	stomach(1)	c.G969A						scavenged	.	C	,	206,3442		5,196,1623	46	45	45		969,954	3	1	16	dbSNP_107	45	614,7562		26,562,3500	no	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	31,758,5123	TT,TC,CC		7.5098,5.6469,6.935	,	323/577,318/572	52478206	820,11004	1824	4088	5912	SO:0001819	synonymous_variant	27324	exon6			GCTGGCCCTGTAT	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.969G>A	16.37:g.52478206C>T		Somatic	77	1	0.012987		WXS	Illumina HiSeq	Phase_I	89	55	0.617977	NM_001080430	B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																			C|0.891;T|0.109	0.109	strong		0.468	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52478206	C	T	52478206	2	4	22	1	0	0	0	0	0	0	0	1	16376	622	22	2		2	TOX3	16	52478206	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1302551	52478206	37876547	8251	13359	279	2								
TOX3	27324	hgsc.bcm.edu	37	chr16	52478215	52478215	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaggctggccctgtatgcCgccagggccttcaggtattc					rs3743797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:52478215C>T	ENST00000219746.9	-	6	1244	c.960G>A	c.(958-960)gcG>gcA	p.A320A	TOX3_ENST00000407228.3_Silent_p.A315A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	320					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.A320A(2)|p.A315A(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCTGTATGCCGCCAGGGCCT	0.463													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15360	0.1488		0.0984	False		,,,				2504	0.1391				p.A320A		Atlas-SNP	.											TOX3_ENST00000407228,NS,carcinoma,0,3	TOX3	121	3	3	Substitution - coding silent(3)	prostate(2)|stomach(1)	c.G960A						scavenged	.	C	,	208,3428		4,200,1614	49	47	48		960,945	-5.3	0.6	16	dbSNP_107	48	623,7555		26,571,3492	yes	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	30,771,5106	TT,TC,CC		7.618,5.7206,7.034	,	320/577,315/572	52478215	831,10983	1818	4089	5907	SO:0001819	synonymous_variant	27324	exon6			GTATGCCGCCAGG	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.960G>A	16.37:g.52478215C>T		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	94	60	0.638298	NM_001080430	B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																			C|0.891;T|0.109	0.109	strong		0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52478215	C	T	52478215	2	4	22	1	0	0	0	0	0	0	0	1	16376	639	23	1		1	TOX3	16	52478215	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9	52478215	37876538	8252	13360	279	2								
TOX3	27324	hgsc.bcm.edu	37	chr16	52484317	52484317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaattcaaccccaactgggCgctgagctgagactggttga	11	11	1	3	rs114182621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:52484317C>T	ENST00000219746.9	-	4	834	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	TOX3_ENST00000407228.3_Missense_Mutation_p.A179T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	184					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCAACTGGGCGCTGAGCTGA	0.582													C|||	28	0.00559105	0.0189	0.0029	5008	,	,		17831	0.001		0.0	False		,,,				2504	0.0				p.A184T		Atlas-SNP	.											.	TOX3	121	.	0			c.G550A						PASS	.	C	THR/ALA,THR/ALA	74,4182		2,70,2056	150	158	155		550,535	3.8	1	16	dbSNP_132	155	0,8480		0,0,4240	yes	missense,missense	TOX3	NM_001080430.2,NM_001146188.1	58,58	2,70,6296	TT,TC,CC		0.0,1.7387,0.581	probably-damaging,probably-damaging	184/577,179/572	52484317	74,12662	2128	4240	6368	SO:0001583	missense	27324	exon4			ACTGGGCGCTGAG	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.550G>A	16.37:g.52484317C>T	ENSP00000219746:p.Ala184Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	140	70	0.5	NM_001080430	B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	CCDS54009.1	15	0.006868131868131868	13	0.026422764227642278	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	13.54	2.267516	0.40095	0.017387	0.0	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.11495	2.77;2.77	5.71	3.77	0.43336	.	0.129794	0.49916	D	0.000134	T	0.04588	0.0125	M	0.68593	2.085	0.45025	D	0.998041	B;B	0.17268	0.008;0.021	B;B	0.06405	0.002;0.002	T	0.02411	-1.1163	10	0.72032	D	0.01	.	11.9513	0.52956	0.0:0.8601:0.0:0.1399	.	179;184	B4DRD0;O15405	.;TOX3_HUMAN	T	184;179	ENSP00000219746:A184T;ENSP00000385705:A179T	ENSP00000219746:A184T	A	-	1	0	TOX3	51041818	1.000000	0.71417	0.992000	0.48379	0.014000	0.08584	3.357000	0.52277	0.763000	0.33175	0.563000	0.77884	GCC	C|0.992;T|0.008	0.008	strong		0.582	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52484317	C	T	52484317	3	4	22	1	0	0	0	0	1	0	0	0	16376	768	27	1	1196	1	TOX3	16	52484317	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6102	52484317	37870436	8253	13361										
TOX3	27324	hgsc.bcm.edu	37	chr16	52497872	52497872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacccactgctatgaagcaCgccatcttgttccacgagat	7	14	1	2	rs16951186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:52497872C>T	ENST00000219746.9	-	3	666	c.382G>A	c.(382-384)Gtg>Atg	p.V128M	TOX3_ENST00000407228.3_Missense_Mutation_p.V123M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	128			V -> M (in dbSNP:rs16951186).		apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTATGAAGCACGCCATCTTGT	0.423													C|||	306	0.0611022	0.1974	0.0259	5008	,	,		20000	0.0		0.007	False		,,,				2504	0.0204				p.V128M		Atlas-SNP	.											.	TOX3	121	.	0			c.G382A						PASS	.	C	MET/VAL,MET/VAL	732,3088		69,594,1247	86	91	89		382,367	5	1	16	dbSNP_123	89	80,8166		0,80,4043	yes	missense,missense	TOX3	NM_001080430.2,NM_001146188.1	21,21	69,674,5290	TT,TC,CC		0.9702,19.1623,6.7297	benign,benign	128/577,123/572	52497872	812,11254	1910	4123	6033	SO:0001583	missense	27324	exon3			GAAGCACGCCATC	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.382G>A	16.37:g.52497872C>T	ENSP00000219746:p.Val128Met	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	110	52	0.472727	NM_001080430	B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	CCDS54009.1	105	0.04807692307692308	90	0.18292682926829268	10	0.027624309392265192	0	0.0	5	0.006596306068601583	C	8.683	0.905489	0.17760	0.191623	0.009702	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.43688	0.94;0.94	5.9	4.96	0.65561	.	0.213630	0.39475	N	0.001341	T	0.00039	0.0001	L	0.34521	1.04	0.36377	P	0.13831300000000002	B;B	0.24721	0.046;0.11	B;B	0.09377	0.004;0.004	T	0.05468	-1.0883	9	0.33940	T	0.23	.	15.3622	0.74487	0.0:0.9332:0.0:0.0668	rs16951186;rs52806498;rs16951186	123;128	B4DRD0;O15405	.;TOX3_HUMAN	M	128;123	ENSP00000219746:V128M;ENSP00000385705:V123M	ENSP00000219746:V128M	V	-	1	0	TOX3	51055373	0.102000	0.21896	0.992000	0.48379	0.646000	0.38490	0.664000	0.25068	1.524000	0.49035	-0.126000	0.14955	GTG	C|0.938;T|0.062	0.062	strong		0.423	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52497872	C	T	52497872	3	4	22	1	0	0	0	0	1	0	0	0	16376	536	19	1	1368	1	TOX3	16	52497872	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13555	52497872	37856881	8254	13362										
RBL2	5934	hgsc.bcm.edu	37	chr16	53503934	53503934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccctctgatggagggacGcctgggcgcatgcccccaca	13	16	1	1	rs1131220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53503934G>A	ENST00000262133.6	+	15	2219	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	694	Pocket; binds E1A.|Spacer.				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						ATGGAGGGACGCCTGGGCGCA	0.547													g|||	2531	0.505391	0.8517	0.4049	5008	,	,		17469	0.1786		0.4662	False		,,,				2504	0.4857				p.T694T		Atlas-SNP	.											.	RBL2	115	.	0			c.G2082A						PASS	.	A		3382,1014	728.0+/-409.9	1314,754,130	76	75	75		2082	1	0.4	16	dbSNP_86	75	4177,4423	565.4+/-388.5	1028,2121,1151	no	coding-synonymous	RBL2	NM_005611.3		2342,2875,1281	AA,AG,GG		48.5698,23.0664,41.8359		694/1140	53503934	7559,5437	2198	4300	6498	SO:0001819	synonymous_variant	5934	exon15			AGGGACGCCTGGG	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.2082G>A	16.37:g.53503934G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	133	132	0.992481	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	CCDS10748.1																																																																																			G|0.461;A|0.539	0.539	strong		0.547	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		A	53503934	G	A	53503934	2	1	22	1	0	0	0	0	0	0	0	1	13110	1074	38	1		1	RBL2	16	53503934	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1006062	53503934	36850819	8255	13363										
RBL2	5934	hgsc.bcm.edu	37	chr16	53504721	53504721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactagatatttcagatgaaTtgaggaaaaaaatctggacc	8	5	2	4	rs10748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53504721T>C	ENST00000262133.6	+	17	2727	c.2590T>C	c.(2590-2592)Ttg>Ctg	p.L864L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	864	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						TTCAGATGAATTGAGGAAAAA	0.378													C|||	2524	0.503994	0.8464	0.4049	5008	,	,		19554	0.1786		0.4662	False		,,,				2504	0.4857				p.L864L		Atlas-SNP	.											.	RBL2	115	.	0			c.T2590C						PASS	.	C		3377,1019	372.2+/-320.3	1309,759,130	128	136	133		2590	2.2	1	16	dbSNP_52	133	4177,4423	587.1+/-392.1	1029,2119,1152	no	coding-synonymous	RBL2	NM_005611.3		2338,2878,1282	CC,CT,TT		48.5698,23.1802,41.8744		864/1140	53504721	7554,5442	2198	4300	6498	SO:0001819	synonymous_variant	5934	exon17			GATGAATTGAGGA	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.2590T>C	16.37:g.53504721T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	CCDS10748.1																																																																																			T|0.470;C|0.530	0.530	strong		0.378	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		C	53504721	T	C	53504721	2	2	22	1	0	0	0	0	0	0	0	1	13110	1490	52	2		2	RBL2	16	53504721	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	787	53504721	36850032	8256	13364										
AKTIP	64400	hgsc.bcm.edu	37	chr16	53526366	53526366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttactgaaaggctgtacTgagccaggctttacccatga	9	10	1	3	rs16952272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53526366T>C	ENST00000394657.7	-	10	1011	c.837A>G	c.(835-837)tcA>tcG	p.S279S	AKTIP_ENST00000300245.4_Silent_p.S280S|AKTIP_ENST00000570004.1_Silent_p.S279S	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	279					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				AAGGCTGTACTGAGCCAGGCT	0.433													T|||	36	0.0071885	0.025	0.0029	5008	,	,		20673	0.0		0.001	False		,,,				2504	0.0				p.S279S		Atlas-SNP	.											.	AKTIP	16	.	0			c.A837G						PASS	.	T	,	119,4277	89.2+/-127.9	2,115,2081	115	112	113		837,837	1.3	1	16	dbSNP_123	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AKTIP	NM_001012398.1,NM_022476.2	,	2,116,6380	CC,CT,TT		0.0116,2.707,0.9234	,	279/293,279/293	53526366	120,12876	2198	4300	6498	SO:0001819	synonymous_variant	64400	exon10			CTGTACTGAGCCA	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.837A>G	16.37:g.53526366T>C		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	184	87	0.472826	NM_022476	Q503B1|Q53H38	Silent	SNP	ENST00000394657.7	37	CCDS10749.1																																																																																			T|0.990;C|0.010	0.010	strong		0.433	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		C	53526366	T	C	53526366	2	2	22	1	0	0	0	0	0	0	0	1	482	1567	55	3		3	AKTIP	16	53526366	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21645	53526366	36828387	8257	13365										
RPGRIP1L	23322	hgsc.bcm.edu	37	chr16	53636000	53636000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgctttcaagcctccaaGtcatctctgtattgcttgta	6	10	3	0	rs4784320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53636000G>A	ENST00000379925.3	-	27	3986	c.3936C>T	c.(3934-3936)gaC>gaT	p.D1312D	RPGRIP1L_ENST00000262135.4_Silent_p.D1232D|RPGRIP1L_ENST00000563746.1_Silent_p.D1278D	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1312					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAGCCTCCAAGTCATCTCTGT	0.448													G|||	585	0.116813	0.3389	0.0461	5008	,	,		17548	0.001		0.0298	False		,,,				2504	0.0757				p.D1312D		Atlas-SNP	.											RPGRIP1L,colon,carcinoma,0,1	RPGRIP1L	118	1	0			c.C3936T						PASS	.	G	,	1170,3226	411.9+/-335.9	162,846,1190	103	86	91		3696,3936	2.6	0.4	16	dbSNP_111	91	320,8280	112.7+/-172.9	6,308,3986	no	coding-synonymous,coding-synonymous	RPGRIP1L	NM_001127897.1,NM_015272.2	,	168,1154,5176	AA,AG,GG		3.7209,26.6151,11.4651	,	1232/1236,1312/1316	53636000	1490,11506	2198	4300	6498	SO:0001819	synonymous_variant	23322	exon27			CTCCAAGTCATCT		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3936C>T	16.37:g.53636000G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	141	77	0.546099	NM_015272	A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	CCDS32447.1																																																																																			G|0.889;A|0.111	0.111	strong		0.448	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		A	53636000	G	A	53636000	2	1	22	1	0	0	0	0	0	0	0	1	13550	1020	36	2		2	RPGRIP1L	16	53636000	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109634	53636000	36718753	8258	13366										
RPGRIP1L	23322	hgsc.bcm.edu	37	chr16	53671754	53671754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttacctcatctacactgcCttcttgtgaaacctgaagaa	5	11	3	3	rs2111119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53671754C>T	ENST00000379925.3	-	21	3123	c.3073G>A	c.(3073-3075)Ggc>Agc	p.G1025S	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.G991S|RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G1025S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G991S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1025			G -> S (in dbSNP:rs2111119). {ECO:0000269|PubMed:19430481}.		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.G1025S(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTACACTGCCTTCTTGTGAA	0.358													T|||	832	0.166134	0.171	0.0778	5008	,	,		18350	0.3204		0.0855	False		,,,				2504	0.1462				p.G1025S		Atlas-SNP	.											RPGRIP1L,NS,carcinoma,0,1	RPGRIP1L	118	1	1	Substitution - Missense(1)	stomach(1)	c.G3073A						PASS	.	T	SER/GLY,SER/GLY	688,3708	758.8+/-412.8	46,596,1556	115	110	111		2971,3073	3	0.5	16	dbSNP_96	111	744,7856	784.1+/-407.6	27,690,3583	yes	missense,missense	RPGRIP1L	NM_001127897.1,NM_015272.2	56,56	73,1286,5139	TT,TC,CC		8.6512,15.6506,11.0188	benign,benign	991/1236,1025/1316	53671754	1432,11564	2198	4300	6498	SO:0001583	missense	23322	exon21			CACTGCCTTCTTG		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3073G>A	16.37:g.53671754C>T	ENSP00000369257:p.Gly1025Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	109	37	0.33945	NM_015272	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	332	0.152014652014652	83	0.16869918699186992	24	0.06629834254143646	161	0.28146853146853146	64	0.08443271767810026	T	0.361	-0.939658	0.02322	0.156506	0.086512	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.74632	-0.64;-0.86	5.23	2.95	0.34219	.	0.323250	0.30781	N	0.008887	T	0.00012	0.0000	N	0.08118	0	0.22489	P	0.999050911	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08269	-1.0730	9	0.02654	T	1	-0.0432	8.5044	0.33179	0.0:0.289:0.0:0.711	rs2111119;rs52836388;rs57405487;rs2111119	1025;991	Q68CZ1;Q68CZ1-2	FTM_HUMAN;.	S	1025;991	ENSP00000369257:G1025S;ENSP00000262135:G991S	ENSP00000262135:G991S	G	-	1	0	RPGRIP1L	52229255	0.984000	0.35163	0.546000	0.28166	0.630000	0.37929	1.723000	0.38053	0.024000	0.15214	-0.361000	0.07541	GGC	C|0.869;T|0.131	0.131	strong		0.358	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		T	53671754	C	T	53671754	3	4	22	1	0	0	0	0	1	0	0	0	13550	681	24	2	902	2	RPGRIP1L	16	53671754	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35754	53671754	36682999	8259	13367										
RPGRIP1L	23322	hgsc.bcm.edu	37	chr16	53720436	53720436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagttttcaggatctcagCcaagtgctctaactcctcta	7	12	4	1	rs61747071	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53720436C>T	ENST00000379925.3	-	6	735	c.685G>A	c.(685-687)Gct>Act	p.A229T	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.A229T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A229T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A229T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	229			A -> T (polymorphism associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes; abrogates interaction with RPGR; found in patients with Leber congenital amaurosis, Senior- Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome; dbSNP:rs61747071). {ECO:0000269|PubMed:19430481}.		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGGATCTCAGCCAAGTGCTCT	0.373													C|||	267	0.0533147	0.1203	0.0259	5008	,	,		18515	0.001		0.0219	False		,,,				2504	0.0685				p.A229T		Atlas-SNP	.											.	RPGRIP1L	118	.	0			c.G685A						PASS	.	C	THR/ALA,THR/ALA	443,3953	214.1+/-233.5	14,415,1769	124	119	121	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	685,685	2.7	1	16	dbSNP_129	121	282,8318	105.0+/-166.0	4,274,4022	yes	missense,missense	RPGRIP1L	NM_001127897.1,NM_015272.2	58,58	18,689,5791	TT,TC,CC		3.2791,10.0773,5.5786	possibly-damaging,possibly-damaging	229/1236,229/1316	53720436	725,12271	2198	4300	6498	SO:0001583	missense	23322	exon6			TCTCAGCCAAGTG		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.685G>A	16.37:g.53720436C>T	ENSP00000369257:p.Ala229Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	105	65	0.619048	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	85	0.03891941391941392	60	0.12195121951219512	8	0.022099447513812154	0	0.0	17	0.022427440633245383	C	11.37	1.619244	0.28801	0.100773	0.032791	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77229	-0.89;-1.08	5.73	2.67	0.31697	.	0.836541	0.11273	N	0.581181	T	0.01320	0.0043	N	0.19112	0.55	0.34168	D	0.669435	B;B;B;B	0.12013	0.001;0.0;0.005;0.0	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.14924	-1.0455	10	0.12430	T	0.62	-1.9763	5.155	0.15031	0.1364:0.5817:0.0:0.2819	rs61747071	229;229;229;229	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	229	ENSP00000369257:A229T;ENSP00000262135:A229T	ENSP00000262135:A229T	A	-	1	0	RPGRIP1L	52277937	0.002000	0.14202	0.995000	0.50966	0.998000	0.95712	-0.035000	0.12205	0.407000	0.25591	0.655000	0.94253	GCT	C|0.953;T|0.047	0.047	strong		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		T	53720436	C	T	53720436	3	4	22	1	0	0	0	0	1	0	0	0	13550	739	26	2	3350	2	RPGRIP1L	16	53720436	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48682	53720436	36634317	8260	13368										
FTO	79068	hgsc.bcm.edu	37	chr16	53922838	53922838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccatggctcaactggaagCactgtggaagaagatggagg	14	8	1	2	rs16952624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:53922838C>T	ENST00000471389.1	+	7	1436	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	FTO_ENST00000431610.2_Missense_Mutation_p.A6V|FTO_ENST00000460382.1_Missense_Mutation_p.A6V|FTO_ENST00000394647.3_Missense_Mutation_p.A109V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	405			A -> V (in dbSNP:rs16952624).		adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACTGGAAGCACTGTGGAAG	0.502													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		18970	0.0		0.0	False		,,,				2504	0.0				p.A405V		Atlas-SNP	.											FTO,NS,carcinoma,-1,1	FTO	51	1	0			c.C1214T						PASS	.	C	VAL/ALA	124,4272	93.0+/-131.7	4,116,2078	287	257	267		1214	-3.4	0	16	dbSNP_123	267	0,8600		0,0,4300	yes	missense	FTO	NM_001080432.2	64	4,116,6378	TT,TC,CC		0.0,2.8207,0.9541	benign	405/506	53922838	124,12872	2198	4300	6498	SO:0001583	missense	79068	exon7			TGGAAGCACTGTG	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1214C>T	16.37:g.53922838C>T	ENSP00000418823:p.Ala405Val	Somatic	299	0	0		WXS	Illumina HiSeq	Phase_I	326	156	0.478528	NM_001080432	A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	CCDS32448.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	C	8.234	0.805364	0.16467	0.028207	0.0	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.84	-3.41	0.04839	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.513654	0.22753	N	0.056043	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	0.999998	B	0.18013	0.025	B	0.18871	0.023	T	0.06552	-1.0820	10	0.46703	T	0.11	-3.9788	7.7201	0.28727	0.3262:0.2045:0.4693:0.0	rs16952624;rs52815989;rs16952624	405	Q9C0B1	FTO_HUMAN	V	405;109;6;6;6	ENSP00000418823:A405V;ENSP00000378142:A109V;ENSP00000415636:A6V;ENSP00000417422:A6V	ENSP00000378142:A109V	A	+	2	0	FTO	52480339	0.643000	0.27269	0.004000	0.12327	0.166000	0.22503	0.621000	0.24418	-0.639000	0.05502	-0.275000	0.10095	GCA	C|0.988;T|0.012	0.012	strong		0.502	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		T	53922838	C	T	53922838	3	4	22	1	0	0	0	0	1	0	0	0	6086	710	25	2	1240	2	FTO	16	53922838	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	202402	53922838	36431915	8261	13369										
MMP2	4313	hgsc.bcm.edu	37	chr16	55523705	55523705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacagccaactacgatgaTgaccgcaagtggggcttctg	11	12	1	2	rs243849|rs201812551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:55523705T>C	ENST00000219070.4	+	7	1658	c.1149T>C	c.(1147-1149)gaT>gaC	p.D383D	MMP2_ENST00000437642.2_Silent_p.D333D|MMP2_ENST00000543485.1_Silent_p.D307D|MMP2_ENST00000570308.1_Silent_p.D307D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	383	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ACTACGATGATGACCGCAAGT	0.567													C|||	4006	0.79992	0.7005	0.804	5008	,	,		20466	0.8016		0.8419	False		,,,				2504	0.8865				p.D383D		Atlas-SNP	.											.	MMP2	119	.	0			c.T1149C						PASS	.	C	,	3116,1280	435.9+/-344.5	1092,932,174	96	79	85		999,1149	-6.8	0.2	16	dbSNP_79	85	7272,1328	259.9+/-283.0	3074,1124,102	no	coding-synonymous,coding-synonymous	MMP2	NM_001127891.1,NM_004530.4	,	4166,2056,276	CC,CT,TT		15.4419,29.1174,20.0677	,	333/611,383/661	55523705	10388,2608	2198	4300	6498	SO:0001819	synonymous_variant	4313	exon7			CGATGATGACCGC		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1149T>C	16.37:g.55523705T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																			T|0.213;C|0.787	0.787	strong		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			C	55523705	T	C	55523705	2	2	22	1	0	0	0	0	0	0	0	1	9658	1461	51	2		2	MMP2	16	55523705	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1600867	55523705	34831048	8262	13370										
CES7	221223	hgsc.bcm.edu	37	chr16	55880480	55880480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggatggtgctggtccaaaaAtccacccgcggttctttgag	13	10	1	1	rs11860456	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:55880480A>C	ENST00000290567.9	-	13	1732	c.1611T>G	c.(1609-1611)gaT>gaG	p.D537E	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.D431E|CES5A_ENST00000319165.9_Missense_Mutation_p.D487E|CES5A_ENST00000520435.1_Missense_Mutation_p.D507E|CES5A_ENST00000521992.1_Missense_Mutation_p.D566E	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	537			D -> E (in dbSNP:rs11860456). {ECO:0000269|PubMed:14702039}.			extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGTCCAAAAATCCACCCGCG	0.522													C|||	1624	0.324281	0.4977	0.1988	5008	,	,		16733	0.2817		0.2793	False		,,,				2504	0.2689				p.D566E		Atlas-SNP	.											.	CES5A	206	.	0			c.T1698G						PASS	.	C	GLU/ASP,GLU/ASP,GLU/ASP	2089,2307		490,1109,599	211	208	209		1611,1698,1461	2.6	0.2	16	dbSNP_120	209	2086,6514		265,1556,2479	yes	missense,missense,missense	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	45,45,45	755,2665,3078	CC,CA,AA		24.2558,47.5205,32.1253	benign,benign,benign	537/576,566/605,487/526	55880480	4175,8821	2198	4300	6498	SO:0001583	missense	221223	exon14			CCAAAAATCCACC	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1611T>G	16.37:g.55880480A>C	ENSP00000290567:p.Asp537Glu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	200	119	0.595	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	695	0.3182234432234432	241	0.4898373983739837	84	0.23204419889502761	162	0.28321678321678323	208	0.27440633245382584	.	0.020	-1.432466	0.01108	0.475205	0.242558	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.61	2.58	0.30949	Carboxylesterase, type B (1);	1.217400	0.05929	N	0.634854	T	0.00012	0.0000	N	0.01809	-0.71	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40979	-0.9534	9	0.19147	T	0.46	.	6.1655	0.20388	0.1316:0.6521:0.0:0.2163	rs11860456;rs12924366;rs16955806;rs52805099;rs58244961;rs11860456	537;487	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	E	566;487;431;537;507;317	ENSP00000428864:D566E;ENSP00000324271:D487E;ENSP00000428571:D431E;ENSP00000290567:D537E;ENSP00000428887:D507E	ENSP00000290567:D537E	D	-	3	2	CES5A	54437981	0.000000	0.05858	0.183000	0.23137	0.011000	0.07611	-1.208000	0.03005	0.123000	0.18342	-0.121000	0.15023	GAT	A|0.672;C|0.328	0.328	strong		0.522	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		C	55880480	A	C	55880480	3	2	22	1	0	0	0	0	1	0	0	0	3272	98	4	5	120	5	CES7	16	55880480	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	356775	55880480	34474273	8263	13371										
CES7	221223	hgsc.bcm.edu	37	chr16	55880534	55880534	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgttcaagtccagctgGaggtactgctcagtcagatt	10	10	4	1	rs11860488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:55880534G>C	ENST00000290567.9	-	13	1678	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	CES5A_ENST00000521992.1_Silent_p.L548L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.L413L|CES5A_ENST00000319165.9_Silent_p.L469L|CES5A_ENST00000520435.1_Silent_p.L489L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	519						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGTCCAGCTGGAGGTACTGCT	0.532													C|||	1533	0.30611	0.4327	0.1873	5008	,	,		16694	0.2817		0.2783	False		,,,				2504	0.273				p.L548L		Atlas-SNP	.											.	CES5A	206	.	0			c.C1644G						PASS	.	C	,,	1885,2511		397,1091,710	205	202	203		1557,1644,1407	3.5	0.8	16	dbSNP_120	203	2083,6517		262,1559,2479	yes	coding-synonymous,coding-synonymous,coding-synonymous	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	659,2650,3189	CC,CG,GG		24.2209,42.8799,30.5325	,,	519/576,548/605,469/526	55880534	3968,9028	2198	4300	6498	SO:0001819	synonymous_variant	221223	exon14			CAGCTGGAGGTAC	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1557C>G	16.37:g.55880534G>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	161	92	0.571429	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																			G|0.695;C|0.305	0.305	strong		0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		C	55880534	G	C	55880534	2	2	22	1	0	0	0	0	0	0	0	1	3272	1161	41	4		4	CES7	16	55880534	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54	55880534	34474219	8264	13372										
CES7	221223	hgsc.bcm.edu	37	chr16	55883667	55883667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgccgaaactcatagaagTagacaggtgcaccagcatct	11	10	2	2	rs545527146		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:55883667T>C	ENST00000290567.9	-	11	1413	c.1292A>G	c.(1291-1293)tAc>tGc	p.Y431C	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.Y325C|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.Y401C|CES5A_ENST00000521992.1_Missense_Mutation_p.Y460C	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	431						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCATAGAAGTAGACAGGTGC	0.557																																					p.Y460C		Atlas-SNP	.											.	CES5A	206	.	0			c.A1379G						PASS	.						77	68	71					16																	55883667		1568	3582	5150	SO:0001583	missense	221223	exon12			TAGAAGTAGACAG	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1292A>G	16.37:g.55883667T>C	ENSP00000290567:p.Tyr431Cys	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	54	31	0.574074	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.955162	0.53293	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.03	5.03	0.67393	Carboxylesterase, type B (1);	0.181974	0.27084	N	0.021018	D	0.92665	0.7669	H	0.98802	4.335	0.49483	D	0.999795	D	0.89917	1.0	D	0.91635	0.999	D	0.95007	0.8148	10	0.87932	D	0	.	13.3257	0.60459	0.0:0.0:0.0:1.0	.	431	Q6NT32	EST5A_HUMAN	C	460;325;431;401;211	ENSP00000428864:Y460C;ENSP00000428571:Y325C;ENSP00000290567:Y431C;ENSP00000428887:Y401C	ENSP00000290567:Y431C	Y	-	2	0	CES5A	54441168	1.000000	0.71417	0.999000	0.59377	0.526000	0.34562	4.597000	0.61062	2.194000	0.70268	0.379000	0.24179	TAC	.	.	none		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		C	55883667	T	C	55883667	3	2	22	1	0	0	0	0	1	0	0	0	3272	1638	57	2	447	2	CES7	16	55883667	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3133	55883667	34471086	8265	13373										
CES7	221223	hgsc.bcm.edu	37	chr16	55907811	55907811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctgcgggttcgtaaatCgcagggatcccagcggggga	17	10	0	0	rs2397965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:55907811C>T	ENST00000290567.9	-	2	333	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.R71Q|CES5A_ENST00000520435.1_Missense_Mutation_p.R71Q|CES5A_ENST00000521992.1_Missense_Mutation_p.R100Q	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	71			R -> Q (in dbSNP:rs2397965).			extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTCGTAAATCGCAGGGATCC	0.592													C|||	1399	0.279353	0.4349	0.1844	5008	,	,		18934	0.3016		0.1581	False		,,,				2504	0.2382				p.R100Q		Atlas-SNP	.											.	CES5A	206	.	0			c.G299A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	1790,2606	527.6+/-372.2	358,1074,766	74	68	70		212,299,212	5.7	0	16	dbSNP_100	70	1346,7254	261.9+/-284.1	113,1120,3067	yes	missense,missense,missense	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	43,43,43	471,2194,3833	TT,TC,CC		15.6512,40.7188,24.1305	probably-damaging,probably-damaging,probably-damaging	71/576,100/605,71/526	55907811	3136,9860	2198	4300	6498	SO:0001583	missense	221223	exon3			GTAAATCGCAGGG	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.212G>A	16.37:g.55907811C>T	ENSP00000290567:p.Arg71Gln	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	110	60	0.545455	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	564	0.25824175824175827	190	0.3861788617886179	72	0.19889502762430938	181	0.31643356643356646	121	0.15963060686015831	C	32	5.181060	0.94846	0.407188	0.156512	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.7	5.7	0.88788	Carboxylesterase, type B (1);	0.000000	0.40302	N	0.001129	T	0.00012	0.0000	H	0.99143	4.445	0.22745	P	0.99878859	D;D	0.89917	0.999;1.0	D;D	0.79108	0.958;0.992	T	0.37150	-0.9718	9	0.87932	D	0	.	17.7138	0.88330	0.0:1.0:0.0:0.0	rs2397965;rs52834119;rs61158595;rs2397965	71;71	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	Q	100;71;71;71	ENSP00000428864:R100Q;ENSP00000324271:R71Q;ENSP00000290567:R71Q;ENSP00000428887:R71Q	ENSP00000290567:R71Q	R	-	2	0	CES5A	54465312	0.999000	0.42202	0.033000	0.17914	0.025000	0.11179	5.937000	0.70162	2.861000	0.98227	0.655000	0.94253	CGA	C|0.743;T|0.257	0.257	strong		0.592	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		T	55907811	C	T	55907811	3	4	22	1	0	0	0	0	1	0	0	0	3272	884	31	1	1563	1	CES7	16	55907811	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24144	55907811	34446942	8266	13374										
GNAO1	2775	hgsc.bcm.edu	37	chr16	56368689	56368689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgccgactaccagcccacCgagcaggacatcctccgaac	9	19	0	0	rs1065375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:56368689C>T	ENST00000262493.6	+	5	1359	c.513C>T	c.(511-513)acC>acT	p.T171T	GNAO1_ENST00000262494.7_Silent_p.T171T	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	171				T -> L (in Ref. 2; AAA52584). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACCAGCCCACCGAGCAGGACA	0.577													C|||	2491	0.497404	0.4153	0.5432	5008	,	,		18474	0.7589		0.4026	False		,,,				2504	0.4039				p.T171T		Atlas-SNP	.											.	GNAO1	95	.	0			c.C513T						PASS	.	C	,	1787,2609	527.9+/-372.3	371,1045,782	85	65	72		513,513	-4.3	1	16	dbSNP_86	72	3381,5219	500.3+/-375.2	672,2037,1591	no	coding-synonymous,coding-synonymous	GNAO1	NM_020988.2,NM_138736.2	,	1043,3082,2373	TT,TC,CC		39.314,40.6506,39.7661	,	171/355,171/355	56368689	5168,7828	2198	4300	6498	SO:0001819	synonymous_variant	2775	exon5			GCCCACCGAGCAG		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.513C>T	16.37:g.56368689C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	119	59	0.495798	NM_138736	P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	CCDS10756.1																																																																																			C|0.556;T|0.444	0.444	strong		0.577	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		T	56368689	C	T	56368689	2	4	22	1	0	0	0	0	0	0	0	1	6508	639	23	1		1	GNAO1	16	56368689	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	460878	56368689	33986064	8267	13375										
OGFOD1	55239	hgsc.bcm.edu	37	chr16	56496469	56496469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctgtttgaagatttccGgtcctggctttctgatattt	8	7	2	3	rs147797412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:56496469G>A	ENST00000566157.1	+	4	494	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	OGFOD1_ENST00000565209.1_3'UTR|OGFOD1_ENST00000568397.1_Missense_Mutation_p.R124Q	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	124					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAAGATTTCCGGTCCTGGCTT	0.393													G|||	5	0.000998403	0.0008	0.0029	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.002				p.R124Q		Atlas-SNP	.											.	OGFOD1	31	.	0			c.G371A						PASS	.	G	GLN/ARG	4,4392	8.1+/-20.4	0,4,2194	80	77	78		371	5.6	1	16	dbSNP_134	78	0,8600		0,0,4300	yes	missense	OGFOD1	NM_018233.3	43	0,4,6494	AA,AG,GG		0.0,0.091,0.0308	possibly-damaging	124/543	56496469	4,12992	2198	4300	6498	SO:0001583	missense	55239	exon4			ATTTCCGGTCCTG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.371G>A	16.37:g.56496469G>A	ENSP00000457258:p.Arg124Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_018233	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474261	0.84640	9.1E-4	0.0	ENSG00000087263	ENST00000336111	.	.	.	5.61	5.61	0.85477	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.79258	2.445	0.80722	D	1	D	0.58268	0.982	B	0.41510	0.359	T	0.67616	-0.5625	9	0.59425	D	0.04	-17.5224	13.8776	0.63662	0.0748:0.0:0.9252:0.0	.	124	Q8N543	OGFD1_HUMAN	Q	124	.	ENSP00000337196:R124Q	R	+	2	0	OGFOD1	55053970	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	6.847000	0.75404	2.658000	0.90341	0.585000	0.79938	CGG	G|1.000;A|0.000	0.000	weak		0.393	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		A	56496469	G	A	56496469	3	1	22	1	0	0	0	0	1	0	0	0	10841	1116	39	1	385	1	OGFOD1	16	56496469	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	127780	56496469	33858284	8268	13376										
BBS2	583	hgsc.bcm.edu	37	chr16	56545175	56545175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaatgtccccagcacaaTtgcatttgccccatctgcta	5	16	1	0	rs11373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:56545175T>C	ENST00000245157.5	-	3	787	c.367A>G	c.(367-369)Att>Gtt	p.I123V	BBS2_ENST00000568104.1_Missense_Mutation_p.I123V|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	123			I -> V (polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred; dbSNP:rs11373). {ECO:0000269|PubMed:11285252, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}.		adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCCAGCACAATTGCATTTGCC	0.413									Bardet-Biedl syndrome				T|||	1320	0.263578	0.2458	0.2767	5008	,	,		18413	0.4127		0.1789	False		,,,				2504	0.2117				p.I123V		Atlas-SNP	.											.	BBS2	67	.	0			c.A367G						PASS	.	T	VAL/ILE	994,3402	372.5+/-320.4	102,790,1306	116	98	104		367	0.5	1	16	dbSNP_52	104	1546,7054	290.9+/-300.1	138,1270,2892	yes	missense	BBS2	NM_031885.3	29	240,2060,4198	CC,CT,TT		17.9767,22.6115,19.5445	benign	123/722	56545175	2540,10456	2198	4300	6498	SO:0001583	missense	583	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	GCACAATTGCATT	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.367A>G	16.37:g.56545175T>C	ENSP00000245157:p.Ile123Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	37	0.506849	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	578	0.26465201465201466	110	0.22357723577235772	93	0.2569060773480663	236	0.4125874125874126	139	0.18337730870712401	T	5.499	0.277020	0.10403	0.226115	0.179767	ENSG00000125124	ENST00000245157	D	0.82167	-1.58	5.9	0.542	0.17174	WD40 repeat-like-containing domain (1);	0.376395	0.31976	N	0.006774	T	0.00012	0.0000	N	0.16307	0.4	0.34697	P	0.273659	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.25117	-1.0141	9	0.14656	T	0.56	-3.2293	5.865	0.18771	0.0:0.3239:0.1315:0.5446	rs11373;rs1129878;rs3177663;rs3188184;rs11555777;rs17295965;rs17354402;rs17845410;rs17858274;rs52799276;rs57383601;rs11373	123;123	A8K0N9;Q9BXC9	.;BBS2_HUMAN	V	123	ENSP00000245157:I123V	ENSP00000245157:I123V	I	-	1	0	BBS2	55102676	0.997000	0.39634	0.994000	0.49952	0.608000	0.37181	0.402000	0.20965	-0.180000	0.10637	-0.276000	0.10085	ATT	T|0.778;C|0.222	0.222	strong		0.413	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		C	56545175	T	C	56545175	3	2	22	1	0	0	0	0	1	0	0	0	1338	1493	52	2	1858	2	BBS2	16	56545175	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48706	56545175	33809578	8269	13377										
SLC12A3	6559	hgsc.bcm.edu	37	chr16	56919216	56919216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtacaggctggctcctacaAcctggccctcagctactcgg	11	15	1	0	rs61746763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:56919216A>G	ENST00000563236.1	+	15	1890	c.1865A>G	c.(1864-1866)aAc>aGc	p.N622S	SLC12A3_ENST00000262502.5_Missense_Mutation_p.N621S|SLC12A3_ENST00000438926.2_Missense_Mutation_p.N622S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.N621S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	622					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCTCCTACAACCTGGCCCTC	0.597													A|||	84	0.0167732	0.0598	0.0058	5008	,	,		19315	0.0		0.001	False		,,,				2504	0.0				p.N622S		Atlas-SNP	.											.	SLC12A3	99	.	0			c.A1865G						PASS	.	A	SER/ASN,SER/ASN,SER/ASN	155,4165		1,153,2006	80	62	68		1865,1862,1865	5.4	1	16	dbSNP_129	68	15,8429		0,15,4207	yes	missense,missense,missense	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	46,46,46	1,168,6213	GG,GA,AA		0.1776,3.588,1.3319	benign,benign,benign	622/1031,621/1030,622/1022	56919216	170,12594	2160	4222	6382	SO:0001583	missense	6559	exon15			CCTACAACCTGGC		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1865A>G	16.37:g.56919216A>G	ENSP00000456149:p.Asn622Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_001126108	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	39	0.017857142857142856	37	0.07520325203252033	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	A	12.22	1.872882	0.33069	0.03588	0.001776	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.4	5.4	0.78164	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	L	0.37561	1.115	0.80722	D	1	B;P;B	0.36110	0.048;0.537;0.343	B;P;B	0.50049	0.039;0.629;0.343	T	0.11446	-1.0587	9	0.11794	T	0.64	.	15.1083	0.72336	1.0:0.0:0.0:0.0	rs61746763	621;622;622	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	S	621;622	.	ENSP00000262502:N622S	N	+	2	0	SLC12A3	55476717	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.253000	0.78320	2.048000	0.60808	0.533000	0.62120	AAC	A|0.981;G|0.019	0.019	strong		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			G	56919216	A	G	56919216	3	3	22	1	0	0	0	0	1	0	0	0	14384	43	2	2	1923	2	SLC12A3	16	56919216	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	374041	56919216	33435537	8270	13378										
CETP	1071	hgsc.bcm.edu	37	chr16	57003846	57003846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtgactctggtagagtgCggaccgatgcccctgactgc	13	13	1	3	rs34716057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57003846C>T	ENST00000566128.1	+	5	532	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CETP_ENST00000379780.2_Missense_Mutation_p.R154W|CETP_ENST00000200676.3_Missense_Mutation_p.R154W|CETP_ENST00000569082.1_3'UTR					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGTAGAGTGCGGACCGATGC	0.597													C|||	41	0.0081869	0.0295	0.0029	5008	,	,		19510	0.0		0.0	False		,,,				2504	0.0				p.R154W		Atlas-SNP	.											.	CETP	50	.	0			c.C460T						PASS	.	C	TRP/ARG	116,4280	88.7+/-127.4	3,110,2085	133	80	98		460	-2.7	0	16	dbSNP_126	98	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CETP	NM_000078.2	101	3,112,6383	TT,TC,CC		0.0233,2.6388,0.908	probably-damaging	154/494	57003846	118,12878	2198	4300	6498	SO:0001583	missense	1071	exon5			AGAGTGCGGACCG	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.265C>T	16.37:g.57003846C>T	ENSP00000456276:p.Arg89Trp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_000078		Missense_Mutation	SNP	ENST00000566128.1	37		17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	C	9.523	1.108810	0.20714	0.026388	2.33E-4	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.06768	3.26;3.26	4.05	-2.74	0.05932	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.824610	0.10339	U	0.686590	T	0.01730	0.0055	N	0.12182	0.205	0.09310	N	1	D;B	0.71674	0.998;0.066	P;B	0.50754	0.649;0.021	T	0.18935	-1.0321	10	0.66056	D	0.02	-16.4666	2.4134	0.04430	0.1231:0.3542:0.3268:0.1959	rs34716057;rs35242580;rs59039225	154;154	P11597-2;P11597	.;CETP_HUMAN	W	154	ENSP00000200676:R154W;ENSP00000369106:R154W	ENSP00000200676:R154W	R	+	1	2	CETP	55561347	0.074000	0.21230	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	-0.956000	0.03631	-1.961000	0.00478	CGG	C|0.992;T|0.008	0.008	strong		0.597	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		T	57003846	C	T	57003846	3	4	22	1	0	0	0	0	1	0	0	0	3277	759	27	1	478	1	CETP	16	57003846	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84630	57003846	33350907	8271	13379										
CETP	1071	hgsc.bcm.edu	37	chr16	57015084	57015084	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccaggatatcgtgactacCgtccaggcctcctattctaa	7	15	1	1	rs7192120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57015084C>G	ENST00000566128.1	+	12	1233	c.966C>G	c.(964-966)acC>acG	p.T322T	CETP_ENST00000379780.2_Silent_p.T327T|CETP_ENST00000200676.3_Silent_p.T387T					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCGTGACTACCGTCCAGGCCT	0.522													C|||	120	0.0239617	0.0847	0.0115	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0				p.T387T		Atlas-SNP	.											CETP,colon,carcinoma,+2,1	CETP	50	1	0			c.C1161G						PASS	.	C		261,4135	148.8+/-183.1	5,251,1942	86	91	90		1161	-5.8	0	16	dbSNP_116	90	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	CETP	NM_000078.2		5,253,6240	GG,GC,CC		0.0233,5.9372,2.0237		387/494	57015084	263,12733	2198	4300	6498	SO:0001819	synonymous_variant	1071	exon12			GACTACCGTCCAG	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.966C>G	16.37:g.57015084C>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_000078		Silent	SNP	ENST00000566128.1	37																																																																																				C|0.979;G|0.021	0.021	strong		0.522	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		G	57015084	C	G	57015084	2	3	22	1	0	0	0	0	0	0	0	1	3277	639	23	4		4	CETP	16	57015084	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11238	57015084	33339669	8272	13380										
CETP	1071	hgsc.bcm.edu	37	chr16	57017279	57017279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcatgaacagcaaaggcGtgagcctcttcgacatcatc	8	14	3	2	rs2228667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57017279G>A	ENST00000566128.1	+	15	1435	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	CETP_ENST00000379780.2_Missense_Mutation_p.V395M|CETP_ENST00000200676.3_Missense_Mutation_p.V455M					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGCAAAGGCGTGAGCCTCTT	0.607																																					p.V455M		Atlas-SNP	.											CETP,NS,carcinoma,-1,1	CETP	50	1	0			c.G1363A						PASS	.		MET/VAL	3,4393		0,3,2195	103	95	98		1363	3.2	1	16	dbSNP_98	98	0,8600		0,0,4300	no	missense	CETP	NM_000078.2	21	0,3,6495	AA,AG,GG		0.0,0.0682,0.0231	benign	455/494	57017279	3,12993	2198	4300	6498	SO:0001583	missense	1071	exon15			AAAGGCGTGAGCC	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1168G>A	16.37:g.57017279G>A	ENSP00000456276:p.Val390Met	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_000078		Missense_Mutation	SNP	ENST00000566128.1	37		.	.	.	.	.	.	.	.	.	.	c	14.33	2.503998	0.44558	6.82E-4	0.0	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.11712	2.75;2.75	3.16	3.16	0.36331	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.497607	0.16291	U	0.220905	T	0.04272	0.0118	N	0.08118	0	0.24408	N	0.994677	B;P	0.44380	0.049;0.834	B;B	0.30029	0.026;0.11	T	0.31833	-0.9929	10	0.66056	D	0.02	0.0425	8.4085	0.32629	0.0:0.7577:0.2423:0.0	rs2228667	395;455	P11597-2;P11597	.;CETP_HUMAN	M	455;395	ENSP00000200676:V455M;ENSP00000369106:V395M	ENSP00000200676:V455M	V	+	1	0	CETP	55574780	0.996000	0.38824	1.000000	0.80357	0.010000	0.07245	0.994000	0.29693	0.668000	0.31126	-0.225000	0.12378	GTG	A|0.002;G|0.998	0.002	strong		0.607	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		A	57017279	G	A	57017279	3	1	22	1	0	0	0	0	1	0	0	0	3277	1145	40	1	1421	1	CETP	16	57017279	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2195	57017279	33337474	8273	13381										
NLRC5	84166	hgsc.bcm.edu	37	chr16	57060136	57060136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaccacgccccaggccaGtctgtggccctcctgcccaa	9	20	1	1	rs149735722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57060136G>T	ENST00000262510.6	+	6	1506	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H	NLRC5_ENST00000308149.7_Missense_Mutation_p.Q427H|NLRC5_ENST00000539144.1_Missense_Mutation_p.Q427H|NLRC5_ENST00000436936.1_Missense_Mutation_p.Q427H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	427	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCCCAGGCCAGTCTGTGGCCC	0.632													G|||	13	0.00259585	0.0098	0.0	5008	,	,		19350	0.0		0.0	False		,,,				2504	0.0				p.Q427H		Atlas-SNP	.											NLRC5,NS,carcinoma,+1,1	NLRC5	186	1	0			c.G1281T						scavenged	.	G	HIS/GLN	16,4380	22.3+/-47.3	0,16,2182	67	67	67		1281	1.6	0.8	16	dbSNP_134	67	0,8600		0,0,4300	yes	missense	NLRC5	NM_032206.3	24	0,16,6482	TT,TG,GG		0.0,0.364,0.1231	probably-damaging	427/1867	57060136	16,12980	2198	4300	6498	SO:0001583	missense	84166	exon5			AGGCCAGTCTGTG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1281G>T	16.37:g.57060136G>T	ENSP00000262510:p.Gln427His	Somatic	44	1	0.0227273		WXS	Illumina HiSeq	Phase_I	46	19	0.413043	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	8.532|8.532	0.871284|0.871284	0.17322|0.17322	0.00364|0.00364	0.0|0.0	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.75477|.	-0.75;-0.77;-0.94;-0.77|.	5.21|5.21	1.62|1.62	0.23740|0.23740	.|.	0.000000|.	0.32819|.	N|.	0.005615|.	T|T	0.42832|0.42832	0.1220|0.1220	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	P;B;B;B|.	0.42518|.	0.782;0.204;0.191;0.157|.	B;B;B;B|.	0.39339|.	0.297;0.056;0.112;0.122|.	T|T	0.37686|0.37686	-0.9695|-0.9695	10|5	0.44086|.	T|.	0.13|.	.|.	11.318|11.318	0.49403|0.49403	0.2425:0.0:0.7575:0.0|0.2425:0.0:0.7575:0.0	.|.	427;427;427;427|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	H|F	427|180	ENSP00000262510:Q427H;ENSP00000308886:Q427H;ENSP00000389739:Q427H;ENSP00000441727:Q427H|.	ENSP00000262510:Q427H|.	Q|V	+|+	3|1	2|0	NLRC5|NLRC5	55617637|55617637	0.142000|0.142000	0.22610|0.22610	0.826000|0.826000	0.32828|0.32828	0.189000|0.189000	0.23516|0.23516	0.756000|0.756000	0.26419|0.26419	0.568000|0.568000	0.29311|0.29311	0.561000|0.561000	0.74099|0.74099	CAG|GTC	G|0.998;T|0.002	0.002	strong		0.632	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		T	57060136	G	T	57060136	3	4	22	1	0	0	0	0	1	0	0	0	10470	1020	36	4	1295	4	NLRC5	16	57060136	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42857	57060136	33294617	8274	13382										
NLRC5	84166	hgsc.bcm.edu	37	chr16	57071167	57071167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgagggccgtgagtgcGtgctggaccctggcagagct	18	10	0	3	rs137919442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57071167G>A	ENST00000262510.6	+	15	2997	c.2772G>A	c.(2770-2772)gcG>gcA	p.A924A	NLRC5_ENST00000308149.7_Silent_p.A924A|NLRC5_ENST00000539144.1_Silent_p.A924A|NLRC5_ENST00000436936.1_Silent_p.A924A	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	924					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTGAGTGCGTGCTGGACCC	0.622													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18115	0.0		0.0	False		,,,				2504	0.0				p.A924A		Atlas-SNP	.											.	NLRC5	186	.	0			c.G2772A						PASS	.	G		20,4376	26.2+/-53.5	0,20,2178	119	103	108		2772	-6.2	0	16	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	NLRC5	NM_032206.3		0,20,6478	AA,AG,GG		0.0,0.455,0.1539		924/1867	57071167	20,12976	2198	4300	6498	SO:0001819	synonymous_variant	84166	exon14			GAGTGCGTGCTGG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2772G>A	16.37:g.57071167G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	23	0.343284	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	3.650	-0.071627	0.07228	0.00455	0.0	ENSG00000140853	ENST00000538805	.	.	.	3.5	-6.21	0.02065	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.19300	N	0.99997	.	.	.	.	.	.	T	0.25950	-1.0117	4	.	.	.	.	7.5874	0.28002	0.4148:0.309:0.2761:0.0	.	.	.	.	M	677	.	.	V	+	1	0	NLRC5	55628668	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.843000	0.00736	-1.778000	0.01282	-1.694000	0.00725	GTG	G|0.998;A|0.002	0.002	strong		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57071167	G	A	57071167	2	1	22	1	0	0	0	0	0	0	0	1	10470	1132	40	1		1	NLRC5	16	57071167	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11031	57071167	33283586	8275	13383										
NLRC5	84166	hgsc.bcm.edu	37	chr16	57101340	57101340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccaccacagccttcttgTcgggcagctgatggagacat	11	13	1	2	rs7190199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57101340T>C	ENST00000262510.6	+	35	4589	c.4364T>C	c.(4363-4365)gTc>gCc	p.V1455A	NLRC5_ENST00000308149.7_Missense_Mutation_p.V1426A|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1426A|NLRC5_ENST00000436936.1_Missense_Mutation_p.V1455A	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1455			V -> A (in dbSNP:rs7190199).		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCCTTCTTGTCGGGCAGCTG	0.567													T|||	450	0.0898562	0.146	0.0893	5008	,	,		19926	0.1181		0.0646	False		,,,				2504	0.0112				p.V1455A		Atlas-SNP	.											.	NLRC5	186	.	0			c.T4364C						PASS	.	T	ALA/VAL	562,3834	251.8+/-258.4	36,490,1672	126	117	120		4364	-2.2	0	16	dbSNP_116	120	445,8155	134.9+/-192.2	16,413,3871	yes	missense	NLRC5	NM_032206.3	64	52,903,5543	CC,CT,TT		5.1744,12.7843,7.7485	benign	1455/1867	57101340	1007,11989	2198	4300	6498	SO:0001583	missense	84166	exon34			TTCTTGTCGGGCA	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4364T>C	16.37:g.57101340T>C	ENSP00000262510:p.Val1455Ala	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	216	104	0.481481	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	213	0.09752747252747253	56	0.11382113821138211	30	0.08287292817679558	80	0.13986013986013987	47	0.06200527704485488	T	6.600	0.478986	0.12581	0.127843	0.051744	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.54479	2.14;2.14;0.57;2.14	4.64	-2.22	0.06952	.	.	.	.	.	T	0.00178	0.0005	N	0.03253	-0.375	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.07558	-1.0766	8	0.49607	T	0.09	.	4.5154	0.11932	0.154:0.3836:0.0:0.4624	rs7190199;rs7190199	1455	Q86WI3	NLRC5_HUMAN	A	1455;1426;1455;1426	ENSP00000262510:V1455A;ENSP00000308886:V1426A;ENSP00000389739:V1455A;ENSP00000441727:V1426A	ENSP00000262510:V1455A	V	+	2	0	NLRC5	55658841	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.273000	0.08548	-0.545000	0.06224	0.450000	0.29827	GTC	T|0.912;C|0.088	0.088	strong		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		C	57101340	T	C	57101340	3	2	22	1	0	0	0	0	1	0	0	0	10470	1667	58	2	4494	2	NLRC5	16	57101340	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30173	57101340	33253413	8276	13384										
CPNE2	221184	hgsc.bcm.edu	37	chr16	57144689	57144689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgggggtgccccagcagCgggggcagcccccatgggcc	18	15	0	0	rs141954860		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57144689C>T	ENST00000535318.2	+	3	396	c.35C>T	c.(34-36)gCg>gTg	p.A12V	CPNE2_ENST00000290776.8_Missense_Mutation_p.A12V|CPNE2_ENST00000565874.1_Missense_Mutation_p.A12V|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	12	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCCCAGCAGCGGGGGCAGCC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		13191	0.0		0.0	False		,,,				2504	0.0				p.A12V		Atlas-SNP	.											.	CPNE2	48	.	0			c.C35T						PASS	.	C	VAL/ALA	0,4394		0,0,2197	28	27	28		35	-2	0	16	dbSNP_134	28	6,8592		0,6,4293	no	missense	CPNE2	NM_152727.5	64	0,6,6490	TT,TC,CC		0.0698,0.0,0.0462	benign	12/549	57144689	6,12986	2197	4299	6496	SO:0001583	missense	221184	exon2			CAGCAGCGGGGGC		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.35C>T	16.37:g.57144689C>T	ENSP00000439018:p.Ala12Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	123	66	0.536585	NM_152727	Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381069	0.42207	0.0	6.98E-4	ENSG00000140848	ENST00000290776;ENST00000535318	T;T	0.05319	3.46;3.46	5.08	-1.97	0.07503	C2 calcium/lipid-binding domain, CaLB (1);	1.227400	0.05504	N	0.558977	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.001	T	0.45056	-0.9287	10	0.33141	T	0.24	-14.5631	7.8677	0.29547	0.0:0.5348:0.2084:0.2568	.	12;12	A8K8A4;Q96FN4	.;CPNE2_HUMAN	V	12	ENSP00000290776:A12V;ENSP00000439018:A12V	ENSP00000290776:A12V	A	+	2	0	CPNE2	55702190	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	-0.045000	0.12003	-0.152000	0.11156	-0.201000	0.12746	GCG	C|0.999;T|0.001	0.001	strong		0.642	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		T	57144689	C	T	57144689	3	4	22	1	0	0	0	0	1	0	0	0	3812	768	27	1	37	1	CPNE2	16	57144689	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43349	57144689	33210064	8277	13385										
CIAPIN1	57019	hgsc.bcm.edu	37	chr16	57468110	57468110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtacttcctcaggggttagGggctcccgctgcagctagaa	13	11	1	1	rs77773186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57468110G>A	ENST00000569979.1	-	4	448	c.402C>T	c.(400-402)ccC>ccT	p.P134P	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569370.1_Silent_p.P134P|CIAPIN1_ENST00000567518.1_Silent_p.P121P|CIAPIN1_ENST00000568940.1_Silent_p.P134P|CIAPIN1_ENST00000394391.4_Silent_p.P134P|CIAPIN1_ENST00000565961.1_Silent_p.P107P					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAGGGGTTAGGGGCTCCCGCT	0.443													G|||	24	0.00479233	0.0182	0.0	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.0				p.P134P		Atlas-SNP	.											.	CIAPIN1	17	.	0			c.C402T						PASS	.	G		40,3776		0,40,1868	108	102	104		402	2.2	0.1	16	dbSNP_131	104	1,8231		0,1,4115	no	coding-synonymous	CIAPIN1	NM_020313.2		0,41,5983	AA,AG,GG		0.0121,1.0482,0.3403		134/313	57468110	41,12007	1908	4116	6024	SO:0001819	synonymous_variant	57019	exon5			GGTTAGGGGCTCC	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.402C>T	16.37:g.57468110G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	96	56	0.583333	NM_020313		Silent	SNP	ENST00000569979.1	37																																																																																				G|0.993;A|0.007	0.007	strong		0.443	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		A	57468110	G	A	57468110	2	1	22	1	0	0	0	0	0	0	0	1	3419	1219	43	2		2	CIAPIN1	16	57468110	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	323421	57468110	32886643	8278	13386										
CIAPIN1	57019	hgsc.bcm.edu	37	chr16	57474740	57474740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccctcattgccggttaacGcttgaagcttatccaccaga	9	13	1	2	rs11557672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57474740G>T	ENST00000569979.1	-	1	147	c.101C>A	c.(100-102)gCg>gAg	p.A34E	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.A34E|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.A34E|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.A34E|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.A34E|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.A34E					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GCCGGTTAACGCTTGAAGCTT	0.522													G|||	73	0.0145767	0.0499	0.0086	5008	,	,		18615	0.0		0.001	False		,,,				2504	0.0				p.A34E		Atlas-SNP	.											.	CIAPIN1	17	.	0			c.C101A						PASS	.	G	GLU/ALA	142,3808		2,138,1835	86	84	85		101	-10	0	16	dbSNP_120	85	3,8331		0,3,4164	no	missense	CIAPIN1	NM_020313.2	107	2,141,5999	TT,TG,GG		0.036,3.5949,1.1804	benign	34/313	57474740	145,12139	1975	4167	6142	SO:0001583	missense	57019	exon2			GTTAACGCTTGAA	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.101C>A	16.37:g.57474740G>T	ENSP00000458000:p.Ala34Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	138	56	0.405797	NM_020313		Missense_Mutation	SNP	ENST00000569979.1	37		31	0.014194139194139194	26	0.052845528455284556	5	0.013812154696132596	0	0.0	0	0.0	G	4.538	0.099964	0.08681	0.035949	3.6E-4	ENSG00000005194	ENST00000394391	T	0.28666	1.6	4.98	-9.96	0.00443	.	1.395360	0.05048	N	0.477654	T	0.01976	0.0062	L	0.33753	1.03	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.18935	-1.0321	10	0.05959	T	0.93	1.2775	3.7895	0.08715	0.0939:0.1347:0.3108:0.4606	rs11557672;rs16957069;rs11557672	34;34;34	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	E	34	ENSP00000377914:A34E	ENSP00000377914:A34E	A	-	2	0	CIAPIN1	56032241	0.000000	0.05858	0.009000	0.14445	0.950000	0.60333	-1.034000	0.03567	-2.690000	0.00404	-0.295000	0.09555	GCG	G|0.975;T|0.025	0.025	strong		0.522	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		T	57474740	G	T	57474740	3	4	22	1	0	0	0	0	1	0	0	0	3419	1087	38	4	869	4	CIAPIN1	16	57474740	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6630	57474740	32880013	8279	13387										
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57552088	57552088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccaggtctccgacctgTgcccgcagcttcttgttctc	8	17	3	0	rs28756858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57552088T>C	ENST00000258214.2	-	6	1386	c.1140A>G	c.(1138-1140)gcA>gcG	p.A380A		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	380										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTCCGACCTGTGCCCGCAGCT	0.701													T|||	1078	0.215256	0.413	0.1585	5008	,	,		15230	0.0288		0.2445	False		,,,				2504	0.1503				p.A380A		Atlas-SNP	.											.	CCDC102A	22	.	0			c.A1140G						PASS	.	T		1718,2678		343,1032,823	50	63	58		1140	-6.6	0.8	16	dbSNP_125	58	2031,6563		240,1551,2506	no	coding-synonymous	CCDC102A	NM_033212.3		583,2583,3329	CC,CT,TT		23.6328,39.081,28.8607		380/551	57552088	3749,9241	2198	4297	6495	SO:0001819	synonymous_variant	92922	exon6			GACCTGTGCCCGC	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1140A>G	16.37:g.57552088T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	49	30	0.612245	NM_033212	Q9BT74	Silent	SNP	ENST00000258214.2	37	CCDS10784.1																																																																																			A|0.000;C|0.268;T|0.732	0.268	strong		0.701	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		C	57552088	T	C	57552088	2	2	22	1	0	0	0	0	0	0	0	1	2736	1683	59	2		2	CCDC102A	16	57552088	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	77348	57552088	32802665	8280	13388										
GPR114	221188	hgsc.bcm.edu	37	chr16	57601792	57601792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagtgactccttaacacgCatccacatgaacctgcatgc	7	14	0	3	rs9937918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57601792C>T	ENST00000340339.4	+	9	1369	c.846C>T	c.(844-846)cgC>cgT	p.R282R	GPR114_ENST00000349457.3_Silent_p.R282R|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	282					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCTTAACACGCATCCACATGA	0.597													c|||	2275	0.454273	0.3759	0.5029	5008	,	,		23261	0.7123		0.2783	False		,,,				2504	0.4407				p.R282R		Atlas-SNP	.											.	GPR114	52	.	0			c.C846T						PASS	.			1618,2778	499.8+/-364.5	299,1020,879	94	76	82		846	-4.1	0.1	16	dbSNP_119	82	2432,6168	398.2+/-346.0	342,1748,2210	no	coding-synonymous	GPR114	NM_153837.1		641,2768,3089	TT,TC,CC		28.2791,36.8062,31.1634		282/529	57601792	4050,8946	2198	4300	6498	SO:0001819	synonymous_variant	221188	exon9			AACACGCATCCAC	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.846C>T	16.37:g.57601792C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_153837	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	CCDS10785.1																																																																																			C|0.625;T|0.375	0.375	strong		0.597	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		T	57601792	C	T	57601792	2	4	22	1	0	0	0	0	0	0	0	1	6631	697	25	2		2	GPR114	16	57601792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49704	57601792	32752961	8281	13389										
GPR97	222487	hgsc.bcm.edu	37	chr16	57717889	57717889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagatgccccaaagatccaCgtggccctgggtggcagcct	13	13	0	2	rs73554921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57717889C>T	ENST00000333493.4	+	9	1088	c.927C>T	c.(925-927)caC>caT	p.H309H	GPR97_ENST00000327655.6_Silent_p.H99H|GPR97_ENST00000450388.3_Silent_p.H189H|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	309					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAAGATCCACGTGGCCCTGG	0.622													.|||	194	0.038738	0.1407	0.0086	5008	,	,		17225	0.0		0.002	False		,,,				2504	0.0				p.H309H		Atlas-SNP	.											.	GPR97	74	.	0			c.C927T						PASS	.	C		535,3861	242.1+/-252.3	34,467,1697	79	81	80		927	-7.7	0.2	16	dbSNP_130	80	29,8571	19.8+/-62.0	0,29,4271	no	coding-synonymous	GPR97	NM_170776.4		34,496,5968	TT,TC,CC		0.3372,12.1702,4.3398		309/550	57717889	564,12432	2198	4300	6498	SO:0001819	synonymous_variant	222487	exon9			GATCCACGTGGCC	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.927C>T	16.37:g.57717889C>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	177	85	0.480226	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			C|0.954;T|0.046	0.046	strong		0.622	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57717889	C	T	57717889	2	4	22	1	0	0	0	0	0	0	0	1	6720	535	19	1		1	GPR97	16	57717889	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	116097	57717889	32636864	8282	13390										
GPR97	222487	hgsc.bcm.edu	37	chr16	57722328	57722328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagcaccacagtctcctcCtctactgcaagattggacca	7	15	2	2	rs12444859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57722328C>T	ENST00000333493.4	+	12	1766	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Silent_p.S415S|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	535					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGTCTCCTCCTCTACTGCAA	0.557													c|||	1740	0.347444	0.441	0.3127	5008	,	,		20043	0.3274		0.3221	False		,,,				2504	0.2924				p.S535S		Atlas-SNP	.											.	GPR97	74	.	0			c.C1605T						PASS	.	C		1895,2501	544.0+/-376.4	427,1041,730	182	162	169		1605	-7.1	0	16	dbSNP_120	169	2658,5942	428.2+/-355.8	412,1834,2054	no	coding-synonymous	GPR97	NM_170776.4		839,2875,2784	TT,TC,CC		30.907,43.1074,35.0339		535/550	57722328	4553,8443	2198	4300	6498	SO:0001819	synonymous_variant	222487	exon12			CTCCTCCTCTACT	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1605C>T	16.37:g.57722328C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	136	65	0.477941	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			C|0.646;T|0.354	0.354	strong		0.557	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57722328	C	T	57722328	2	4	22	1	0	0	0	0	0	0	0	1	6720	668	24	2		2	GPR97	16	57722328	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4439	57722328	32632425	8283	13391										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57732012	57732012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagcaggagacgctcagaGacctggagaagaagctgtca	13	8	2	4	rs55645458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57732012G>A	ENST00000360716.3	+	3	372	c.151G>A	c.(151-153)Gac>Aac	p.D51N	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.D51N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D51N			Q8IY82	CC135_HUMAN		51			D -> N (in dbSNP:rs55645458).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACGCTCAGAGACCTGGAGAA	0.607													g|||	54	0.0107827	0.0	0.0072	5008	,	,		18158	0.0		0.0398	False		,,,				2504	0.0092				p.D51N		Atlas-SNP	.											.	CCDC135	97	.	0			c.G151A						PASS	.	G	ASN/ASP	47,4349	50.2+/-85.5	0,47,2151	100	91	94		151	4.2	1	16	dbSNP_129	94	422,8178	130.8+/-188.7	10,402,3888	yes	missense	CCDC135	NM_032269.5	23	10,449,6039	AA,AG,GG		4.907,1.0692,3.6088	possibly-damaging	51/875	57732012	469,12527	2198	4300	6498	SO:0001583	missense	84229	exon2			CTCAGAGACCTGG																												ENST00000360716.3:c.151G>A	16.37:g.57732012G>A	ENSP00000353942:p.Asp51Asn	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	35	0.016025641025641024	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	32	0.04221635883905013	G	15.87	2.961520	0.53400	0.010692	0.04907	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10573	3.1;2.86;3.1	4.18	4.18	0.49190	.	0.477501	0.21157	N	0.079231	T	0.03434	0.0099	M	0.63843	1.955	0.32197	N	0.578329	D;D	0.59357	0.985;0.967	P;P	0.54270	0.747;0.718	T	0.00899	-1.1522	10	0.62326	D	0.03	-34.8223	12.3248	0.55005	0.0:0.0:1.0:0.0	rs55645458	51;51	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	51	ENSP00000377869:D51N;ENSP00000338938:D51N;ENSP00000353942:D51N	ENSP00000338938:D51N	D	+	1	0	CCDC135	56289513	0.994000	0.37717	0.997000	0.53966	0.030000	0.12068	2.049000	0.41288	2.613000	0.88420	0.549000	0.68633	GAC	G|0.971;A|0.029	0.029	strong		0.607	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57732012	G	A	57732012	3	1	22	1	0	0	0	0	1	0	0	0	2769	942	33	2	153	2	CCDC135	16	57732012	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9684	57732012	32622741	8284	13392										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57758732	57758732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagcagtgcagagtcaaaCccccggcccattgtggtaag	12	12	1	2	rs2923144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57758732C>A	ENST00000360716.3	+	13	1964	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	CCDC135_ENST00000336825.8_Missense_Mutation_p.N516K|CCDC135_ENST00000394337.4_Missense_Mutation_p.N581K			Q8IY82	CC135_HUMAN		581			N -> K (in dbSNP:rs2923144).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGAGTCAAACCCCCGGCCCA	0.602													.|||	450	0.0898562	0.1815	0.0634	5008	,	,		18037	0.001		0.1004	False		,,,				2504	0.0654				p.N581K		Atlas-SNP	.											.	CCDC135	97	.	0			c.C1743A						PASS	.	C	LYS/ASN	725,3669		62,601,1534	47	41	43		1743	-0.1	0.9	16	dbSNP_101	43	842,7756		36,770,3493	yes	missense	CCDC135	NM_032269.5	94	98,1371,5027	AA,AC,CC		9.793,16.4998,12.0613	probably-damaging	581/875	57758732	1567,11425	2197	4299	6496	SO:0001583	missense	84229	exon12			GTCAAACCCCCGG																												ENST00000360716.3:c.1743C>A	16.37:g.57758732C>A	ENSP00000353942:p.Asn581Lys	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	52	25	0.480769	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	173	0.07921245421245421	73	0.1483739837398374	26	0.0718232044198895	1	0.0017482517482517483	73	0.09630606860158311	.	16.68	3.189813	0.57909	0.164998	0.09793	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.09445	3.14;2.98;3.14	5.2	-0.106	0.13596	.	0.296489	0.37715	N	0.001979	T	0.00109	0.0003	M	0.80183	2.485	0.24037	P	0.9960909	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.12167	-1.0558	9	0.18276	T	0.48	-47.579	9.4754	0.38869	0.0:0.6228:0.0:0.3772	rs2923144;rs52829900;rs59847143;rs2923144	516;581	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	581;516;581	ENSP00000377869:N581K;ENSP00000338938:N516K;ENSP00000353942:N581K	ENSP00000338938:N516K	N	+	3	2	CCDC135	56316233	0.251000	0.23961	0.949000	0.38748	0.883000	0.51084	-0.202000	0.09451	0.222000	0.20900	-0.218000	0.12543	AAC	C|0.891;A|0.109	0.109	strong		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57758732	C	A	57758732	3	1	22	1	0	0	0	0	1	0	0	0	2769	506	18	4	1785	4	CCDC135	16	57758732	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26720	57758732	32596021	8285	13393										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57762401	57762401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccaggagagaaactaacaTgctggcaggcggtgcgcctc	14	12	0	1	rs2923147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57762401T>C	ENST00000360716.3	+	17	2517	c.2296T>C	c.(2296-2298)Tgc>Cgc	p.C766R	CCDC135_ENST00000394337.4_Missense_Mutation_p.C766R|CCDC135_ENST00000336825.8_Missense_Mutation_p.C701R			Q8IY82	CC135_HUMAN		766			C -> R (in dbSNP:rs2923147). {ECO:0000269|PubMed:11230166}.		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GAAACTAACATGCTGGCAGGC	0.622													c|||	1976	0.394569	0.7133	0.2954	5008	,	,		16930	0.3839		0.2256	False		,,,				2504	0.2188				p.C766R		Atlas-SNP	.											CCDC135,NS,carcinoma,0,1	CCDC135	97	1	0			c.T2296C						scavenged	.	C	ARG/CYS	2798,1594	487.6+/-361.0	900,998,298	46	51	49		2296	4.2	0.8	16	dbSNP_101	49	1710,6882	732.0+/-406.8	169,1372,2755	yes	missense	CCDC135	NM_032269.5	180	1069,2370,3053	CC,CT,TT		19.9022,36.2933,34.7197	benign	766/875	57762401	4508,8476	2196	4296	6492	SO:0001583	missense	84229	exon16			CTAACATGCTGGC																												ENST00000360716.3:c.2296T>C	16.37:g.57762401T>C	ENSP00000353942:p.Cys766Arg	Somatic	239	2	0.0083682		WXS	Illumina HiSeq	Phase_I	227	109	0.480176	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	843	0.385989010989011	344	0.6991869918699187	109	0.3011049723756906	218	0.3811188811188811	172	0.22691292875989447	c	0.059	-1.228281	0.01518	0.637067	0.199022	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.35973	1.28;1.28;1.28	5.15	4.16	0.48862	.	0.215200	0.37304	N	0.002154	T	0.00012	0.0000	N	0.00067	-2.295	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43180	-0.9407	9	0.02654	T	1	-14.2278	8.0328	0.30476	0.2595:0.6617:0.0:0.0788	rs2923147;rs3803595;rs57995451;rs2923147	701;766	Q8IY82-2;Q8IY82	.;CC135_HUMAN	R	766;701;766	ENSP00000377869:C766R;ENSP00000338938:C701R;ENSP00000353942:C766R	ENSP00000338938:C701R	C	+	1	0	CCDC135	56319902	0.054000	0.20591	0.822000	0.32727	0.661000	0.39034	1.019000	0.30014	1.184000	0.42957	-0.320000	0.08662	TGC	T|0.627;C|0.373	0.373	strong		0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			C	57762401	T	C	57762401	3	2	22	1	0	0	0	0	1	0	0	0	2769	1464	51	2	2354	2	CCDC135	16	57762401	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3669	57762401	32592352	8286	13394										
CNGB1	1258	hgsc.bcm.edu	37	chr16	57935442	57935442	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggtgtacctgaaagagtGcgactttgctaacgatgttg					rs112002818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57935442G>A	ENST00000251102.8	-	28	2942	c.2882C>T	c.(2881-2883)gCa>gTa	p.A961V	CNGB1_ENST00000564448.1_Missense_Mutation_p.A955V	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	961			A -> S (in dbSNP:rs16942445).		cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTGAAAGAGTGCGACTTTGCT	0.537													G|||	200	0.0399361	0.0015	0.0187	5008	,	,		22717	0.0079		0.0726	False		,,,				2504	0.1063				p.A961V	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.C2882T						PASS	.	G	VAL/ALA	41,4089		0,41,2024	111	115	113	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2882	4.9	1	16	dbSNP_132	113	504,7910		22,460,3725	yes	missense	CNGB1	NM_001297.4	64	22,501,5749	AA,AG,GG		5.99,0.9927,4.3447	benign	961/1252	57935442	545,11999	2065	4207	6272	SO:0001583	missense	1258	exon28			AAGAGTGCGACTT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2882C>T	16.37:g.57935442G>A	ENSP00000251102:p.Ala961Val	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	74	0.03388278388278388	1	0.0020325203252032522	9	0.024861878453038673	5	0.008741258741258742	59	0.07783641160949868	G	13.26	2.183705	0.38609	0.009927	0.0599	ENSG00000070729	ENST00000251102	D	0.96651	-4.08	4.87	4.87	0.63330	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.070612	0.56097	D	0.000026	T	0.58793	0.2147	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.308	B;B	0.34590	0.086;0.186	T	0.76383	-0.2979	10	0.34782	T	0.22	.	10.6253	0.45504	0.0877:0.0:0.9123:0.0	.	333;961	Q14028-2;Q14028	.;CNGB1_HUMAN	V	961	ENSP00000251102:A961V	ENSP00000251102:A961V	A	-	2	0	CNGB1	56492943	1.000000	0.71417	0.993000	0.49108	0.064000	0.16182	4.769000	0.62300	2.245000	0.73994	0.561000	0.74099	GCA	G|0.958;A|0.042	0.042	strong		0.537	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57935442	G	A	57935442	3	1	22	1	0	0	0	0	1	0	0	0	3600	1319	46	2	897	2	CNGB1	16	57935442	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	173041	57935442	32419311	8287	13395	280	2								
CNGB1	1258	hgsc.bcm.edu	37	chr16	57935443	57935443	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgtacctgaaagagtgCgactttgctaacgatgttgt					rs16942445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:57935443C>A	ENST00000251102.8	-	28	2941	c.2881G>T	c.(2881-2883)Gca>Tca	p.A961S	CNGB1_ENST00000564448.1_Missense_Mutation_p.A955S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	961			A -> S (in dbSNP:rs16942445).		cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAAAGAGTGCGACTTTGCTA	0.537													C|||	193	0.0385383	0.1384	0.0086	5008	,	,		22586	0.0		0.004	False		,,,				2504	0.0				p.A961S	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.G2881T						PASS	.	C	SER/ALA	387,3743		19,349,1697	111	114	113		2881	3.9	1	16	dbSNP_123	113	5,8409		0,5,4202	yes	missense	CNGB1	NM_001297.4	99	19,354,5899	AA,AC,CC		0.0594,9.3705,3.125	benign	961/1252	57935443	392,12152	2065	4207	6272	SO:0001583	missense	1258	exon28			AGAGTGCGACTTT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2881G>T	16.37:g.57935443C>A	ENSP00000251102:p.Ala961Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	63	0.028846153846153848	59	0.11991869918699187	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	8.424	0.846959	0.17034	0.093705	5.94E-4	ENSG00000070729	ENST00000251102	D	0.96427	-4.01	4.8	3.86	0.44501	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.070612	0.56097	D	0.000026	T	0.17450	0.0419	L	0.28556	0.865	0.80722	D	1	B;B	0.23540	0.087;0.082	B;B	0.28784	0.041;0.094	T	0.62955	-0.6744	10	0.14252	T	0.57	.	8.8322	0.35091	0.0:0.8291:0.0:0.1709	rs16942445;rs52812859;rs16942445	333;961	Q14028-2;Q14028	.;CNGB1_HUMAN	S	961	ENSP00000251102:A961S	ENSP00000251102:A961S	A	-	1	0	CNGB1	56492944	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	2.124000	0.42006	1.028000	0.39785	-0.215000	0.12644	GCA	C|0.957;A|0.043	0.043	strong		0.537	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57935443	C	A	57935443	3	1	22	1	0	0	0	0	1	0	0	0	3600	768	27	4	898	4	CNGB1	16	57935443	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	57935443	32419310	8288	13396	280	2								
ZNF319	57567	hgsc.bcm.edu	37	chr16	58031996	58031996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgtgggggctgcaggccGgggtctggctgcaggaggat	21	7	1	0	rs115738968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58031996G>A	ENST00000299237.2	-	2	796	c.174C>T	c.(172-174)ccC>ccT	p.P58P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	58	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTGCAGGCCGGGGTCTGGCT	0.701													G|||	42	0.00838658	0.0272	0.0058	5008	,	,		16696	0.0		0.002	False		,,,				2504	0.0				p.P58P		Atlas-SNP	.											.	ZNF319	42	.	0			c.C174T						PASS	.	G		102,4294	79.3+/-117.8	4,94,2100	33	36	35		174	-10.4	0	16	dbSNP_132	35	19,8577	13.3+/-46.6	0,19,4279	no	coding-synonymous	ZNF319	NM_020807.1		4,113,6379	AA,AG,GG		0.221,2.3203,0.9313		58/583	58031996	121,12871	2198	4298	6496	SO:0001819	synonymous_variant	57567	exon2			CAGGCCGGGGTCT	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.174C>T	16.37:g.58031996G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	34	18	0.529412	NM_020807	Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																			G|0.992;A|0.008	0.008	strong		0.701	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			A	58031996	G	A	58031996	2	1	22	1	0	0	0	0	0	0	0	1	17834	1103	39	1		1	ZNF319	16	58031996	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96553	58031996	32322757	8289	13397										
MMP15	4324	hgsc.bcm.edu	37	chr16	58079268	58079268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgcgtcctgggcctcaCctacgcgctggtgcagatgc	13	15	2	1	rs141377329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58079268C>T	ENST00000219271.3	+	10	2713	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	643					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CTGGGCCTCACCTACGCGCTG	0.662													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		14760	0.0		0.0	False		,,,				2504	0.0				p.T643I		Atlas-SNP	.											.	MMP15	58	.	0			c.C1928T						PASS	.	C	ILE/THR	39,4355		0,39,2158	124	127	126		1928	3.6	0	16	dbSNP_134	126	1,8595		0,1,4297	yes	missense	MMP15	NM_002428.2	89	0,40,6455	TT,TC,CC		0.0116,0.8876,0.3079	benign	643/670	58079268	40,12950	2197	4298	6495	SO:0001583	missense	4324	exon10			GCCTCACCTACGC	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1928C>T	16.37:g.58079268C>T	ENSP00000219271:p.Thr643Ile	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_002428	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	2.732	-0.264139	0.05754	0.008876	1.16E-4	ENSG00000102996	ENST00000219271	T	0.25579	1.79	4.65	3.62	0.41486	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.337903	0.33772	N	0.004578	T	0.02970	0.0088	N	0.00186	-1.895	0.26149	N	0.980165	B	0.06786	0.001	B	0.06405	0.002	T	0.40194	-0.9576	10	0.10902	T	0.67	.	5.4497	0.16556	0.0:0.7809:0.0:0.2191	.	643	P51511	MMP15_HUMAN	I	643	ENSP00000219271:T643I	ENSP00000219271:T643I	T	+	2	0	MMP15	56636769	0.999000	0.42202	0.018000	0.16275	0.093000	0.18481	2.919000	0.48836	2.418000	0.82041	0.555000	0.69702	ACC	C|0.997;T|0.003	0.003	strong		0.662	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		T	58079268	C	T	58079268	3	4	22	1	0	0	0	0	1	0	0	0	9654	507	18	2	1966	2	MMP15	16	58079268	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47272	58079268	32275485	8290	13398										
NDRG4	65009	hgsc.bcm.edu	37	chr16	58540875	58540875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcagcagattgggaacgtGgtgaaccaggccaacctgca	14	11	0	2	rs17821543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58540875G>A	ENST00000570248.1	+	8	682	c.576G>A	c.(574-576)gtG>gtA	p.V192V	NDRG4_ENST00000563799.1_Silent_p.V210V|NDRG4_ENST00000562999.1_Silent_p.V192V|NDRG4_ENST00000566192.1_Silent_p.V192V|NDRG4_ENST00000394282.4_Silent_p.V244V|NDRG4_ENST00000356752.4_Silent_p.V222V|NDRG4_ENST00000394279.2_Silent_p.V224V|NDRG4_ENST00000258187.5_Silent_p.V224V|NDRG4_ENST00000569923.1_Silent_p.V137V|NDRG4_ENST00000568640.1_Silent_p.V210V	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	192					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TTGGGAACGTGGTGAACCAGG	0.612													G|||	187	0.0373403	0.0038	0.0288	5008	,	,		17683	0.0		0.0865	False		,,,				2504	0.0767				p.V244V		Atlas-SNP	.											.	NDRG4	29	.	0			c.G732A						PASS	.	G	,,,,,,	79,4317	67.6+/-105.2	2,75,2121	108	86	94		732,666,630,576,576,672,672	3.2	1	16	dbSNP_123	94	612,7988	159.8+/-213.0	28,556,3716	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	30,631,5837	AA,AG,GG		7.1163,1.7971,5.317	,,,,,,	244/392,222/370,210/358,192/353,192/340,224/372,224/372	58540875	691,12305	2198	4300	6498	SO:0001819	synonymous_variant	65009	exon10			GAACGTGGTGAAC	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.576G>A	16.37:g.58540875G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_001130487	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	CCDS58466.1																																																																																			G|0.951;A|0.049	0.049	strong		0.612	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			A	58540875	G	A	58540875	2	1	22	1	0	0	0	0	0	0	0	1	10254	1335	47	2		2	NDRG4	16	58540875	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	461607	58540875	31813878	8291	13399										
NDRG4	65009	hgsc.bcm.edu	37	chr16	58542901	58542901	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactggacccgaccactacGaccttcctgaaggtgaggct	10	13	0	2	rs867583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58542901G>A	ENST00000570248.1	+	11	871	c.765G>A	c.(763-765)acG>acA	p.T255T	NDRG4_ENST00000563799.1_Silent_p.T273T|NDRG4_ENST00000562999.1_Silent_p.T255T|NDRG4_ENST00000566192.1_Silent_p.T255T|NDRG4_ENST00000394282.4_Silent_p.T307T|NDRG4_ENST00000356752.4_Silent_p.T285T|NDRG4_ENST00000394279.2_Silent_p.T287T|NDRG4_ENST00000258187.5_Silent_p.T287T|NDRG4_ENST00000569923.1_Silent_p.T200T|NDRG4_ENST00000568640.1_Silent_p.T273T	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	255	Poly-Thr.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CGACCACTACGACCTTCCTGA	0.632													G|||	1797	0.358826	0.379	0.2392	5008	,	,		18235	0.5694		0.2127	False		,,,				2504	0.3497				p.T307T		Atlas-SNP	.											.	NDRG4	29	.	0			c.G921A						PASS	.	G	,,,,,,	1646,2750	501.2+/-364.9	320,1006,872	68	70	69		921,855,819,765,765,861,861	-7.5	0.8	16	dbSNP_86	69	1716,6884	313.1+/-311.2	163,1390,2747	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	483,2396,3619	AA,AG,GG		19.9535,37.4431,25.8695	,,,,,,	307/392,285/370,273/358,255/353,255/340,287/372,287/372	58542901	3362,9634	2198	4300	6498	SO:0001819	synonymous_variant	65009	exon13			CACTACGACCTTC	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.765G>A	16.37:g.58542901G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	76	31	0.407895	NM_001130487	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	CCDS58466.1																																																																																			G|0.696;A|0.304	0.304	strong		0.632	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			A	58542901	G	A	58542901	2	1	22	1	0	0	0	0	0	0	0	1	10254	1045	37	1		1	NDRG4	16	58542901	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2026	58542901	31811852	8292	13400										
CNOT1	23019	hgsc.bcm.edu	37	chr16	58575489	58575489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattgcgtgcaaactcttcGtaaacagccaactgctttgg	8	11	1	0	rs11540994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58575489G>A	ENST00000317147.5	-	34	5048	c.4716C>T	c.(4714-4716)taC>taT	p.Y1572Y	CNOT1_ENST00000569240.1_Silent_p.Y1567Y|CNOT1_ENST00000245138.4_Silent_p.Y423Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1572	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAACTCTTCGTAAACAGCCA	0.398													G|||	2430	0.485224	0.6687	0.2983	5008	,	,		18050	0.5704		0.3211	False		,,,				2504	0.4509				p.Y1572Y		Atlas-SNP	.											.	CNOT1	359	.	0			c.C4716T						PASS	.	G		2658,1738	646.7+/-398.4	835,988,375	106	101	103		4716	3.7	1	16	dbSNP_120	103	2516,6084	411.9+/-350.6	380,1756,2164	no	coding-synonymous	CNOT1	NM_016284.3		1215,2744,2539	AA,AG,GG		29.2558,39.5359,39.8122		1572/2377	58575489	5174,7822	2198	4300	6498	SO:0001819	synonymous_variant	23019	exon34			CTCTTCGTAAACA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4716C>T	16.37:g.58575489G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	152	152	1	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			G|0.584;A|0.416	0.416	strong		0.398	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		A	58575489	G	A	58575489	2	1	22	1	0	0	0	0	0	0	0	1	3617	1140	40	1		1	CNOT1	16	58575489	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32588	58575489	31779264	8293	13401										
CNOT1	23019	hgsc.bcm.edu	37	chr16	58587737	58587737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgactgatagaagccaaatgCtgacaatactggggatagtc	11	7	0	4	rs11866002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58587737C>T	ENST00000317147.5	-	22	3251	c.2919G>A	c.(2917-2919)caG>caA	p.Q973Q	CNOT1_ENST00000569240.1_Silent_p.Q968Q|CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000441024.2_Silent_p.Q973Q|CNOT1_ENST00000245138.4_5'Flank	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	973	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGCCAAATGCTGACAATACT	0.368													C|||	2430	0.485224	0.6687	0.2983	5008	,	,		18562	0.5704		0.3211	False		,,,				2504	0.4509				p.Q973Q		Atlas-SNP	.											.	CNOT1	359	.	0			c.G2919A						PASS	.	C	,	2658,1738	646.7+/-398.4	835,988,375	128	128	128		2919,2919	2.9	1	16	dbSNP_120	128	2515,6085	411.5+/-350.5	380,1755,2165	no	coding-synonymous,coding-synonymous	CNOT1	NM_016284.3,NM_206999.1	,	1215,2743,2540	TT,TC,CC		29.2442,39.5359,39.8046	,	973/2377,973/1552	58587737	5173,7823	2198	4300	6498	SO:0001819	synonymous_variant	23019	exon22			CAAATGCTGACAA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2919G>A	16.37:g.58587737C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			C|0.556;T|0.444	0.444	strong		0.368	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58587737	C	T	58587737	2	4	22	1	0	0	0	0	0	0	0	1	3617	796	28	2		2	CNOT1	16	58587737	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12248	58587737	31767016	8294	13402										
GOT2	2806	hgsc.bcm.edu	37	chr16	58743454	58743454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgatgcggtcagccatgActttcacttcttgcagcctg	9	12	3	2	rs30842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58743454A>C	ENST00000245206.5	-	9	1165	c.1037T>G	c.(1036-1038)gTc>gGc	p.V346G	GOT2_ENST00000434819.2_Missense_Mutation_p.V303G	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	346			V -> G (in dbSNP:rs30842). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:3207426, ECO:0000269|PubMed:4052435}.		2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GTCAGCCATGACTTTCACTTC	0.502													C|||	3782	0.755192	0.8994	0.7824	5008	,	,		19314	0.6607		0.7097	False		,,,				2504	0.6851				p.V346G		Atlas-SNP	.											.	GOT2	42	.	0			c.T1037G						PASS	.	C	GLY/VAL	3785,611	265.6+/-266.7	1627,531,40	253	247	249		1037	5.3	1	16	dbSNP_76	249	5901,2699	433.0+/-357.3	2034,1833,433	yes	missense	GOT2	NM_002080.2	109	3661,2364,473	CC,CA,AA		31.3837,13.899,25.4694	benign	346/431	58743454	9686,3310	2198	4300	6498	SO:0001583	missense	2806	exon9			GCCATGACTTTCA		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1037T>G	16.37:g.58743454A>C	ENSP00000245206:p.Val346Gly	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	90	54	0.6	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	1611	0.7376373626373627	438	0.8902439024390244	277	0.7651933701657458	376	0.6573426573426573	520	0.6860158311345647	C	3.270	-0.149293	0.06585	0.86101	0.686163	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.90261	-2.64;-2.64	5.31	5.31	0.75309	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.162273	0.53938	N	0.000059	T	0.00012	0.0000	N	0.00327	-1.64	0.33927	P	0.35837300000000005	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42649	-0.9439	8	.	.	.	5.2238	14.6551	0.68828	0.1464:0.8536:0.0:0.0	rs30842;rs17821579;rs56935811;rs30842	303;346	E7ERW2;P00505	.;AATM_HUMAN	G	346;303	ENSP00000245206:V346G;ENSP00000394100:V303G	.	V	-	2	0	GOT2	57300955	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.160000	0.50739	1.252000	0.44001	-0.127000	0.14921	GTC	A|0.252;C|0.748	0.748	strong		0.502	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			C	58743454	A	C	58743454	3	2	22	1	0	0	0	0	1	0	0	0	6581	275	10	5	263	5	GOT2	16	58743454	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	155717	58743454	31611299	8295	13403										
GOT2	2806	hgsc.bcm.edu	37	chr16	58750604	58750604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggcatatgattggcagagGcaaacattaatgccctgttc	10	8	0	2	rs1058192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58750604G>A	ENST00000245206.5	-	7	944	c.816C>T	c.(814-816)tgC>tgT	p.C272C	GOT2_ENST00000434819.2_Silent_p.C229C|GOT2_ENST00000564400.1_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	272					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.C272C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ATTGGCAGAGGCAAACATTAA	0.502													A|||	3607	0.720248	0.8896	0.7738	5008	,	,		20689	0.6478		0.67	False		,,,				2504	0.5798				p.C272C		Atlas-SNP	.											GOT2,NS,carcinoma,0,1	GOT2	42	1	1	Substitution - coding silent(1)	prostate(1)	c.C816T						PASS	.	A		3702,694	289.8+/-280.6	1553,596,49	73	60	65		816	0.8	1	16	dbSNP_86	65	5574,3026	466.3+/-366.7	1803,1968,529	no	coding-synonymous	GOT2	NM_002080.2		3356,2564,578	AA,AG,GG		35.186,15.7871,28.6242		272/431	58750604	9276,3720	2198	4300	6498	SO:0001819	synonymous_variant	2806	exon7			GCAGAGGCAAACA		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.816C>T	16.37:g.58750604G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1																																																																																			G|0.286;A|0.714	0.714	strong		0.502	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			A	58750604	G	A	58750604	2	1	22	1	0	0	0	0	0	0	0	1	6581	1195	42	2		2	GOT2	16	58750604	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7150	58750604	31604149	8296	13404										
GOT2	2806	hgsc.bcm.edu	37	chr16	58757668	58757668	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttgcggacgctaggcagAacgtaaggctttccattatc	10	11	0	1	rs14221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58757668A>C	ENST00000245206.5	-	2	356	c.228T>G	c.(226-228)gtT>gtG	p.V76V	GOT2_ENST00000434819.2_Silent_p.V76V|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	76					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	CGCTAGGCAGAACGTAAGGCT	0.493													C|||	3547	0.708267	0.8676	0.7608	5008	,	,		20232	0.6339		0.662	False		,,,				2504	0.5798				p.V76V		Atlas-SNP	.											.	GOT2	42	.	0			c.T228G						PASS	.	C		3631,765	310.5+/-291.6	1493,645,60	201	205	203		228	3.2	1	16	dbSNP_52	203	5581,3019	465.9+/-366.6	1809,1963,528	no	coding-synonymous	GOT2	NM_002080.2		3302,2608,588	CC,CA,AA		35.1047,17.4022,29.1167		76/431	58757668	9212,3784	2198	4300	6498	SO:0001819	synonymous_variant	2806	exon2			AGGCAGAACGTAA		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.228T>G	16.37:g.58757668A>C		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	183	77	0.420765	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1																																																																																			A|0.293;C|0.707;G|0.000	0.707	strong		0.493	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			C	58757668	A	C	58757668	2	2	22	1	0	0	0	0	0	0	0	1	6581	233	9	5		5	GOT2	16	58757668	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7064	58757668	31597085	8297	13405										
GOT2	2806	hgsc.bcm.edu	37	chr16	58757683	58757683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagaacgtaaggctttccAttatcatcccggtaggcacc	10	12	1	1	rs257636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:58757683A>G	ENST00000245206.5	-	2	341	c.213T>C	c.(211-213)aaT>aaC	p.N71N	GOT2_ENST00000434819.2_Silent_p.N71N|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	71					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AAGGCTTTCCATTATCATCCC	0.498													G|||	3453	0.689497	0.8238	0.7594	5008	,	,		20246	0.6032		0.661	False		,,,				2504	0.5767				p.N71N		Atlas-SNP	.											.	GOT2	42	.	0			c.T213C						PASS	.	G		3474,922	353.1+/-312.0	1360,754,84	209	211	210		213	-2	1	16	dbSNP_79	210	5580,3020	466.1+/-366.7	1808,1964,528	yes	coding-synonymous	GOT2	NM_002080.2		3168,2718,612	GG,GA,AA		35.1163,20.9736,30.3324		71/431	58757683	9054,3942	2198	4300	6498	SO:0001819	synonymous_variant	2806	exon2			CTTTCCATTATCA		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.213T>C	16.37:g.58757683A>G		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	209	92	0.440191	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1																																																																																			A|0.308;G|0.692	0.692	strong		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			G	58757683	A	G	58757683	2	3	22	1	0	0	0	0	0	0	0	1	6581	214	8	2		2	GOT2	16	58757683	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15	58757683	31597070	8298	13406										
CMTM2	146225	hgsc.bcm.edu	37	chr16	66613525	66613525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtcatggcacctaaggcGgcaaagggggccaagccaga	14	11	2	1	rs11553598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:66613525G>A	ENST00000268595.2	+	1	166	c.15G>A	c.(13-15)gcG>gcA	p.A5A	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Silent_p.A5A	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	5					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CACCTAAGGCGGCAAAGGGGG	0.597													G|||	719	0.14357	0.1944	0.0937	5008	,	,		13817	0.1895		0.0835	False		,,,				2504	0.1247				p.A5A		Atlas-SNP	.											CMTM2,NS,carcinoma,+1,2	CMTM2	33	2	0			c.G15A						scavenged	.	G	,	842,3560	327.5+/-300.1	73,696,1432	65	64	64		15,15	-6.4	0	16	dbSNP_120	64	730,7870	175.5+/-225.5	40,650,3610	no	coding-synonymous,coding-synonymous	CMTM2	NM_001199317.1,NM_144673.2	,	113,1346,5042	AA,AG,GG		8.4884,19.1277,12.0904	,	5/196,5/249	66613525	1572,11430	2201	4300	6501	SO:0001819	synonymous_variant	146225	exon1			TAAGGCGGCAAAG	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.15G>A	16.37:g.66613525G>A		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	45	24	0.533333	NM_001199317	Q5I2A4|Q8N7E5	Silent	SNP	ENST00000268595.2	37	CCDS10814.1																																																																																			G|0.874;A|0.126	0.126	strong		0.597	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			A	66613525	G	A	66613525	2	1	22	1	0	0	0	0	0	0	0	1	3583	1103	39	1		1	CMTM2	16	66613525	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7855842	66613525	23741228	8299	13407										
CDH16	1014	hgsc.bcm.edu	37	chr16	66945947	66945947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactagcacagtcaccgtggCggtggctccagggcctgggc	15	14	1	0	rs61735427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:66945947C>T	ENST00000299752.4	-	13	1838	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	CDH16_ENST00000568632.1_Missense_Mutation_p.A452T|CDH16_ENST00000394055.3_Missense_Mutation_p.A549T|CDH16_ENST00000570262.1_Missense_Mutation_p.A469T|CDH16_ENST00000565796.1_Missense_Mutation_p.A549T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A549S(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCACCGTGGCGGTGGCTCCA	0.632													C|||	367	0.0732827	0.1747	0.0159	5008	,	,		17094	0.0466		0.0209	False		,,,				2504	0.0583				p.A549T		Atlas-SNP	.											.	CDH16	91	.	1	Substitution - Missense(1)	kidney(1)	c.G1645A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	644,3756	275.4+/-272.5	48,548,1604	73	69	70		1645,1645,1354,1645	3.3	1	16	dbSNP_129	70	152,8448	74.2+/-136.8	1,150,4149	yes	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	58,58,58,58	49,698,5753	TT,TC,CC		1.7674,14.6364,6.1231	benign,benign,benign,benign	549/808,549/791,452/733,549/830	66945947	796,12204	2200	4300	6500	SO:0001583	missense	1014	exon13			CCGTGGCGGTGGC	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1645G>A	16.37:g.66945947C>T	ENSP00000299752:p.Ala549Thr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	94	51	0.542553	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	130	0.05952380952380952	86	0.17479674796747968	8	0.022099447513812154	21	0.03671328671328671	15	0.01978891820580475	C	11.69	1.715168	0.30413	0.146364	0.017674	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.50548	0.74;0.74	5.25	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.189569	0.44688	N	0.000424	T	0.00144	0.0004	L	0.37800	1.135	0.21290	P	0.999738213	P;P;P	0.52692	0.944;0.955;0.955	P;B;P	0.48598	0.447;0.406;0.583	T	0.04870	-1.0921	9	0.29301	T	0.29	-6.4677	8.4964	0.33130	0.0:0.8095:0.0:0.1905	.	549;549;549	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	T	549;549;513	ENSP00000377619:A549T;ENSP00000299752:A549T	ENSP00000299752:A549T	A	-	1	0	CDH16	65503448	0.961000	0.32948	0.994000	0.49952	0.027000	0.11550	1.892000	0.39748	1.350000	0.45770	0.462000	0.41574	GCC	C|0.942;T|0.058	0.058	strong		0.632	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		T	66945947	C	T	66945947	3	4	22	1	0	0	0	0	1	0	0	0	3101	768	27	1	868	1	CDH16	16	66945947	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	332422	66945947	23408806	8300	13408										
CES8	283848	hgsc.bcm.edu	37	chr16	67037054	67037054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattcagacttttcatcactAgtaacccactgaaagtggcc	6	11	3	2	rs61744399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67037054A>C	ENST00000326686.5	+	6	772	c.772A>C	c.(772-774)Agt>Cgt	p.S258R	CES4A_ENST00000398354.1_Missense_Mutation_p.S258R|CES4A_ENST00000540579.1_Missense_Mutation_p.S160R|CES4A_ENST00000541479.1_Missense_Mutation_p.S281R|CES4A_ENST00000338718.4_Missense_Mutation_p.S281R|CES4A_ENST00000540947.2_Missense_Mutation_p.S258R|CES4A_ENST00000535696.1_Missense_Mutation_p.S164R			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	258						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TTTCATCACTAGTAACCCACT	0.542													C|||	1677	0.334864	0.8033	0.1715	5008	,	,		21997	0.2312		0.0755	False		,,,				2504	0.1912				p.S258R		Atlas-SNP	.											.	CES4A	24	.	0			c.A772C						PASS	.	C	ARG/SER,ARG/SER,ARG/SER	2521,1475		801,919,278	91	90	90		478,490,772	1.6	0	16	dbSNP_129	90	632,7720		31,570,3575	yes	missense,missense,missense	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	110,110,110	832,1489,3853	CC,CA,AA		7.567,36.9119,25.5345	benign,benign,benign	160/464,164/375,258/469	67037054	3153,9195	1998	4176	6174	SO:0001583	missense	283848	exon6			ATCACTAGTAACC	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.772A>C	16.37:g.67037054A>C	ENSP00000314145:p.Ser258Arg	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	155	66	0.425806	NM_173815	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37		632	0.2893772893772894	386	0.7845528455284553	61	0.1685082872928177	129	0.22552447552447552	56	0.07387862796833773	c	10.71	1.426257	0.25726	0.630881	0.07567	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.68624	0.28;0.28;0.28;0.28;-0.34;0.28;-0.34;0.28	5.17	1.61	0.23674	Carboxylesterase, type B (1);	3.156810	0.01089	N	0.005151	T	0.00012	0.0000	N	0.25647	0.755	0.80722	P	0.0	B;B;B;B	0.13145	0.007;0.0;0.0;0.0	B;B;B;B	0.16722	0.012;0.0;0.016;0.001	T	0.45991	-0.9223	9	0.25106	T	0.35	.	2.6837	0.05101	0.3927:0.3632:0.0:0.2441	rs61744399	164;281;258;281	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	R	258;281;281;258;258;221;160;164	ENSP00000444052:S258R;ENSP00000443175:S281R;ENSP00000340714:S281R;ENSP00000381397:S258R;ENSP00000314145:S258R;ENSP00000441103:S221R;ENSP00000441907:S160R;ENSP00000441644:S164R	ENSP00000314145:S258R	S	+	1	0	CES4A	65594555	0.000000	0.05858	0.048000	0.18961	0.178000	0.23041	-0.283000	0.08433	0.205000	0.20568	-0.211000	0.12701	AGT	A|0.791;C|0.209	0.209	strong		0.542	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		C	67037054	A	C	67037054	3	2	22	1	0	0	0	0	1	0	0	0	3273	420	15	5	875	5	CES8	16	67037054	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	91107	67037054	23317699	8301	13409										
CBFB	865	hgsc.bcm.edu	37	chr16	67116169	67116169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggctcggagaaggacacgCgaatttgaagatagagacag	15	6	0	4	rs78053453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67116169C>T	ENST00000290858.6	+	5	714	c.453C>T	c.(451-453)cgC>cgT	p.R151R	CBFB_ENST00000561924.2_Silent_p.R51R|CBFB_ENST00000412916.2_Silent_p.R151R	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	151					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GAAGGACACGCGAATTTGAAG	0.433			T	MYH11	AML								C|||	358	0.0714856	0.1853	0.0115	5008	,	,		12709	0.0377		0.002	False		,,,				2504	0.0665				p.R151R		Atlas-SNP	.		Dom	yes		16	16q22	865	"core-binding factor, beta subunit"		L	CBFB_ENST00000412916,NS,carcinoma,+1,2	CBFB	52	2	0			c.C453T						PASS	.	C	,	664,3736	281.9+/-276.2	46,572,1582	98	90	93		453,453	0.1	1	16	dbSNP_132	93	10,8590	5.7+/-21.5	0,10,4290	no	coding-synonymous,coding-synonymous	CBFB	NM_001755.2,NM_022845.2	,	46,582,5872	TT,TC,CC		0.1163,15.0909,5.1846	,	151/183,151/188	67116169	674,12326	2200	4300	6500	SO:0001819	synonymous_variant	865	exon5			GACACGCGAATTT	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.453C>T	16.37:g.67116169C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	88	38	0.431818	NM_022845	A8K347|Q13124|Q9HCT2	Silent	SNP	ENST00000290858.6	37	CCDS10827.1																																																																																			C|0.951;T|0.049	0.049	strong		0.433	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755		T	67116169	C	T	67116169	2	4	22	1	0	0	0	0	0	0	0	1	2699	755	27	1		1	CBFB	16	67116169	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79115	67116169	23238584	8302	13410										
KIAA0895L	653319	hgsc.bcm.edu	37	chr16	67210855	67210855	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccccatggggccgcagGtggtccacatcctcatagga	12	14	1	0	rs61733789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67210855G>C	ENST00000290881.7	-	8	2201	c.1275C>G	c.(1273-1275)caC>caG	p.H425Q	KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.H425Q			Q68EN5	K895L_HUMAN	KIAA0895-like	425										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGGCCGCAGGTGGTCCACAT	0.627													G|||	334	0.0666933	0.1929	0.0086	5008	,	,		17791	0.003		0.003	False		,,,				2504	0.0685				p.H425Q		Atlas-SNP	.											.	KIAA0895L	32	.	0			c.C1275G						PASS	.	G	GLN/HIS	589,3435		38,513,1461	61	66	64		1275	-3.4	1	16	dbSNP_129	64	8,8370		0,8,4181	yes	missense	KIAA0895L	NM_001040715.1	24	38,521,5642	CC,CG,GG		0.0955,14.6372,4.8137	benign	425/472	67210855	597,11805	2012	4189	6201	SO:0001583	missense	653319	exon7			CCGCAGGTGGTCC	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1275C>G	16.37:g.67210855G>C	ENSP00000290881:p.His425Gln	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_001040715	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	CCDS42177.1	101	0.04624542124542125	95	0.19308943089430894	4	0.011049723756906077	2	0.0034965034965034965	0	0.0	G	11.37	1.618724	0.28801	0.146372	9.55E-4	ENSG00000196123	ENST00000290881	.	.	.	4.59	-3.36	0.04913	.	0.520084	0.22311	N	0.061738	T	0.00012	0.0000	N	0.11560	0.145	0.43271	P	0.004773000000000027	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.005	T	0.23868	-1.0176	8	0.17369	T	0.5	-13.5417	1.6114	0.02694	0.2829:0.364:0.2227:0.1304	rs61733789	425;270	Q68EN5;Q68EN5-3	K895L_HUMAN;.	Q	425	.	ENSP00000290881:H425Q	H	-	3	2	KIAA0895L	65768356	0.060000	0.20803	0.971000	0.41717	0.993000	0.82548	-0.536000	0.06135	-0.345000	0.08325	0.555000	0.69702	CAC	G|0.923;C|0.077	0.077	strong		0.627	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		C	67210855	G	C	67210855	3	2	22	1	0	0	0	0	1	0	0	0	8198	1252	44	4	144	4	KIAA0895L	16	67210855	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94686	67210855	23143898	8303	13411										
KIAA0895L	653319	hgsc.bcm.edu	37	chr16	67214346	67214346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcaggctggggctgcagCgctggggggactgccagagc	19	11	1	1	rs7186508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67214346C>T	ENST00000290881.7	-	3	1094	c.168G>A	c.(166-168)gcG>gcA	p.A56A	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.A56A|KIAA0895L_ENST00000563902.1_Silent_p.A56A			Q68EN5	K895L_HUMAN	KIAA0895-like	56	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGGCTGCAGCGCTGGGGGGA	0.642													T|||	1003	0.20028	0.5129	0.0735	5008	,	,		15749	0.0248		0.0686	False		,,,				2504	0.184				p.A56A		Atlas-SNP	.											.	KIAA0895L	32	.	0			c.G168A						PASS	.	T		1443,2569		246,951,809	10	15	13		168	-5.4	0.1	16	dbSNP_116	13	510,7778		21,468,3655	no	coding-synonymous	KIAA0895L	NM_001040715.1		267,1419,4464	TT,TC,CC		6.1535,35.9671,15.878		56/472	67214346	1953,10347	2006	4144	6150	SO:0001819	synonymous_variant	653319	exon2			CTGCAGCGCTGGG	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.168G>A	16.37:g.67214346C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	128	67	0.523438	NM_001040715	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	CCDS42177.1																																																																																			C|0.864;T|0.136	0.136	strong		0.642	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		T	67214346	C	T	67214346	2	4	22	1	0	0	0	0	0	0	0	1	8198	755	27	1		1	KIAA0895L	16	67214346	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3491	67214346	23140407	8304	13412										
EXOC3L	283849	hgsc.bcm.edu	37	chr16	67219107	67219107	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtccgttcacacacactttGcaggagctcagggctcgaca	10	14	2	0	rs9939768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67219107G>C	ENST00000314586.6	-	11	1921	c.1681C>G	c.(1681-1683)Caa>Gaa	p.Q561E	KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	561			Q -> E (in dbSNP:rs9939768).		exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CACACACTTTGCAGGAGCTCA	0.642													C|||	1001	0.19988	0.5113	0.0735	5008	,	,		17024	0.0248		0.0686	False		,,,				2504	0.184				p.Q561E		Atlas-SNP	.											.	EXOC3L1	52	.	0			c.C1681G						PASS	.	C	GLU/GLN	1842,2554	608.3+/-391.1	395,1052,751	45	56	52		1681	3.7	0.7	16	dbSNP_119	52	595,8005	777.5+/-407.7	28,539,3733	yes	missense	EXOC3L1	NM_178516.3	29	423,1591,4484	CC,CG,GG		6.9186,41.9017,18.7519	benign	561/747	67219107	2437,10559	2198	4300	6498	SO:0001583	missense	283849	exon11			CACTTTGCAGGAG	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1681C>G	16.37:g.67219107G>C	ENSP00000325674:p.Gln561Glu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	122	49	0.401639	NM_178516	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	326	0.14926739926739926	233	0.4735772357723577	33	0.09116022099447514	12	0.02097902097902098	48	0.0633245382585752	C	5.850	0.340979	0.11069	0.419017	0.069186	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.05649	3.41;3.41	5.6	3.66	0.41972	.	0.572106	0.19996	N	0.101441	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.42258	-0.9462	9	0.06236	T	0.91	-7.604	6.6796	0.23113	0.0:0.6955:0.1467:0.1578	rs9939768;rs52823978;rs9939768	458;458;561	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	E	561;458;463	ENSP00000325674:Q561E;ENSP00000439910:Q458E	ENSP00000325008:Q463E	Q	-	1	0	EXOC3L1	65776608	0.110000	0.22057	0.717000	0.30585	0.064000	0.16182	0.707000	0.25704	0.334000	0.23590	-0.215000	0.12644	CAA	G|0.838;C|0.162	0.162	strong		0.642	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		C	67219107	G	C	67219107	3	2	22	1	0	0	0	0	1	0	0	0	5304	1328	46	4	575	4	EXOC3L	16	67219107	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4761	67219107	23135646	8305	13413										
EXOC3L	283849	hgsc.bcm.edu	37	chr16	67221494	67221494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtctccacctccgccacaCgcacagcagccaccaacagg	7	20	1	0	rs79820293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67221494C>T	ENST00000314586.6	-	5	914	c.674G>A	c.(673-675)cGt>cAt	p.R225H	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	225	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCGCCACACGCACAGCAGC	0.687													C|||	107	0.0213658	0.0772	0.0043	5008	,	,		16224	0.0		0.002	False		,,,				2504	0.0				p.R225H		Atlas-SNP	.											.	EXOC3L1	52	.	0			c.G674A						PASS	.	C	HIS/ARG	242,4152		8,226,1963	28	33	32		674	5.8	1	16	dbSNP_131	32	1,8597		0,1,4298	yes	missense	EXOC3L1	NM_178516.3	29	8,227,6261	TT,TC,CC		0.0116,5.5075,1.8704	probably-damaging	225/747	67221494	243,12749	2197	4299	6496	SO:0001583	missense	283849	exon5			GCCACACGCACAG	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.674G>A	16.37:g.67221494C>T	ENSP00000325674:p.Arg225His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	75	30	0.4	NM_178516	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	49	0.022435897435897436	47	0.09552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	26.0	4.691637	0.88735	0.055075	1.16E-4	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.34472	3.05;1.36	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	M	0.74881	2.28	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.04454	-1.0950	10	0.59425	D	0.04	-11.3738	18.7162	0.91677	0.0:1.0:0.0:0.0	.	164;164;225	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	H	225;164;169	ENSP00000325674:R225H;ENSP00000439910:R164H	ENSP00000325008:R169H	R	-	2	0	EXOC3L1	65778995	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	4.142000	0.58044	2.763000	0.94921	0.650000	0.86243	CGT	C|0.978;T|0.022	0.022	strong		0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		T	67221494	C	T	67221494	3	4	22	1	0	0	0	0	1	0	0	0	5304	536	19	1	1606	1	EXOC3L	16	67221494	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2387	67221494	23133259	8306	13414										
E2F4	1874	hgsc.bcm.edu	37	chr16	67229827	67229827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcagcagcagcagcagCagcagcaacagtaacagcag	12	12	0	0	rs3730404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67229827C>T	ENST00000379378.3	+	7	1010	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	317	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		gcagcagcagcagcagcaaca	0.612													C|||	311	0.0621006	0.1762	0.0086	5008	,	,		18005	0.003		0.003	False		,,,				2504	0.0675				p.S317S		Atlas-SNP	.											.	E2F4	25	.	0			c.C951T						PASS	.	-		587,3809	256.1+/-261.0	39,509,1650	47	50	49		951	0.5	1	16	dbSNP_107	49	7,8591	3.7+/-12.6	0,7,4292	no	coding-synonymous	E2F4	NM_001950.3		39,516,5942	TT,TC,CC		0.0814,13.353,4.5713		317/414	67229827	594,12400	2198	4299	6497	SO:0001819	synonymous_variant	1874	exon7			CAGCAGCAGCAGC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.951C>T	16.37:g.67229827C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	115	63	0.547826	NM_001950	A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	CCDS32464.1																																																																																			C|0.949;T|0.051	0.051	strong		0.612	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		T	67229827	C	T	67229827	2	4	22	1	0	0	0	0	0	0	0	1	4869	709	25	2		2	E2F4	16	67229827	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8333	67229827	23124926	8307	13415										
ELMO3	1874	hgsc.bcm.edu	37	chr16	67234134	67234134	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgggtgggctgcagagtAacagtcctgaagggcgccgg	17	9	1	2	rs8058861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67234134A>G	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Missense_Mutation_p.N131D|ELMO3_ENST00000393997.2_Missense_Mutation_p.N148D|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000571638.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCTGCAGAGTAACAGTCCTGA	0.622													G|||	1010	0.201677	0.5182	0.0735	5008	,	,		13259	0.0238		0.0696	False		,,,				2504	0.184				p.N148D		Atlas-SNP	.											.	ELMO3	41	.	0			c.A442G						PASS	.	G	ASP/ASN	1657,2387		342,973,707	36	38	37		442	0.7	0	16	dbSNP_116	37	583,7741		29,525,3608	yes	missense	ELMO3	NM_024712.3	23	371,1498,4315	GG,GA,AA		7.0038,40.9743,18.1113	benign	148/774	67234134	2240,10128	2022	4162	6184	SO:0001628	intergenic_variant	79767	exon5			CAGAGTAACAGTC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67234134A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_024712	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	333	0.15247252747252749	239	0.48577235772357724	33	0.09116022099447514	12	0.02097902097902098	49	0.06464379947229551	G	10.23	1.291660	0.23564	0.409743	0.070038	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.46819	0.86;0.86	5.16	0.709	0.18150	.	1.206870	0.05741	N	0.601429	T	0.00012	0.0000	N	0.12182	0.205	0.36902	P	0.109541	B;B	0.18166	0.011;0.026	B;B	0.17722	0.019;0.019	T	0.45160	-0.9280	9	0.25106	T	0.35	-1.8862	1.3437	0.02159	0.2925:0.242:0.3415:0.124	rs8058861;rs8058861	131;148	F8W9E7;Q96BJ8-3	.;.	D	131;148	ENSP00000354077:N131D;ENSP00000377566:N148D	ENSP00000354077:N131D	N	+	1	0	ELMO3	65791635	0.001000	0.12720	0.035000	0.18076	0.556000	0.35491	-0.293000	0.08320	-0.315000	0.08703	-0.366000	0.07423	AAC	A|0.847;G|0.153	0.153	strong		0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		G	67234134	A	G	67234134	1	3	22	0	1	0	0	0	0	0	0	0	5067	362	13	2		2	ELMO3	16	67234134	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4307	67234134	23120619	8308	13416										
ELMO3	1874	hgsc.bcm.edu	37	chr16	67235672	67235672	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggagcagctgcaggtcctaCgccaggctgccttcgaggtg	16	12	0	0	rs33948247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67235672C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Missense_Mutation_p.R203C|ELMO3_ENST00000360833.1_Missense_Mutation_p.R352C|ELMO3_ENST00000393997.2_Missense_Mutation_p.R369C|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCAGGTCCTACGCCAGGCTGC	0.637													C|||	104	0.0207668	0.0106	0.0288	5008	,	,		15790	0.0		0.0616	False		,,,				2504	0.0082				p.R369C		Atlas-SNP	.											.	ELMO3	41	.	0			c.C1105T						PASS	.	C	CYS/ARG	71,4085		0,71,2007	33	41	39		1105	5.6	1	16	dbSNP_126	39	472,7948		13,446,3751	yes	missense	ELMO3	NM_024712.3	180	13,517,5758	TT,TC,CC		5.6057,1.7084,4.3177	probably-damaging	369/774	67235672	543,12033	2078	4210	6288	SO:0001628	intergenic_variant	79767	exon11			GTCCTACGCCAGG	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235672C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	72	36	0.5	NM_024712	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	69	0.03159340659340659	3	0.006097560975609756	16	0.04419889502762431	0	0.0	50	0.06596306068601583	C	33	5.223713	0.95139	0.017084	0.056057	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.30981	1.51;1.51	5.55	5.55	0.83447	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.30001	-0.9993	10	0.87932	D	0	-19.9951	18.0933	0.89480	0.0:1.0:0.0:0.0	rs33948247	316;352;369	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	C	352;369	ENSP00000354077:R352C;ENSP00000377566:R369C	ENSP00000354077:R352C	R	+	1	0	ELMO3	65793173	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.768000	0.68858	2.630000	0.89119	0.561000	0.74099	CGC	C|0.960;T|0.040	0.040	strong		0.637	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		T	67235672	C	T	67235672	1	4	22	0	1	0	0	0	0	0	0	0	5067	536	19	1		1	ELMO3	16	67235672	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1538	67235672	23119081	8309	13417										
FHOD1	29109	hgsc.bcm.edu	37	chr16	67265360	67265360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattgaggaagttgcccacCgctaggagggtagccaggat	14	10	0	1	rs6499118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67265360C>A	ENST00000258201.4	-	16	2725	c.2478G>T	c.(2476-2478)gcG>gcT	p.A826A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	826	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGTTGCCCACCGCTAGGAGGG	0.567													A|||	1312	0.261981	0.7368	0.0922	5008	,	,		20718	0.0238		0.0706	False		,,,				2504	0.183				p.A826A		Atlas-SNP	.											.	FHOD1	86	.	0			c.G2478T						PASS	.	A		2657,1739	520.2+/-370.2	812,1033,353	112	104	107		2478	4.3	1	16	dbSNP_116	107	604,7996	792.3+/-407.5	28,548,3724	no	coding-synonymous	FHOD1	NM_013241.2		840,1581,4077	AA,AC,CC		7.0233,39.5587,25.0923		826/1165	67265360	3261,9735	2198	4300	6498	SO:0001819	synonymous_variant	29109	exon16			GCCCACCGCTAGG	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2478G>T	16.37:g.67265360C>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	162	80	0.493827	NM_013241	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	CCDS10834.1																																																																																			C|0.755;A|0.245	0.245	strong		0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			A	67265360	C	A	67265360	2	1	22	1	0	0	0	0	0	0	0	1	5882	639	23	4		4	FHOD1	16	67265360	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29688	67265360	23089393	8310	13418										
FHOD1	29109	hgsc.bcm.edu	37	chr16	67266065	67266065	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgcttggggtccagcacTgtggtcattgtccggcggcc	15	13	1	0	rs34888644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67266065T>C	ENST00000258201.4	-	14	2326	c.2079A>G	c.(2077-2079)acA>acG	p.T693T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	693	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGTCCAGCACTGTGGTCATTG	0.582													T|||	375	0.0748802	0.2201	0.013	5008	,	,		18790	0.003		0.003	False		,,,				2504	0.0706				p.T693T		Atlas-SNP	.											.	FHOD1	86	.	0			c.A2079G						PASS	.	T		797,3599	319.1+/-295.9	76,645,1477	147	122	131		2079	-0.9	1	16	dbSNP_126	131	8,8592	3.7+/-12.6	0,8,4292	no	coding-synonymous	FHOD1	NM_013241.2		76,653,5769	CC,CT,TT		0.093,18.1301,6.1942		693/1165	67266065	805,12191	2198	4300	6498	SO:0001819	synonymous_variant	29109	exon14			CAGCACTGTGGTC	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2079A>G	16.37:g.67266065T>C		Somatic	418	1	0.00239234		WXS	Illumina HiSeq	Phase_I	452	223	0.493363	NM_013241	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	CCDS10834.1																																																																																			T|0.919;C|0.081	0.081	strong		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			C	67266065	T	C	67266065	2	2	22	1	0	0	0	0	0	0	0	1	5882	1567	55	3		3	FHOD1	16	67266065	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	705	67266065	23088688	8311	13419										
PLEKHG4	25894	hgsc.bcm.edu	37	chr16	67316234	67316234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagaggtcccagaggtgaCcctgagcccagactacaggt	13	12	0	5	rs11860295	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67316234C>T	ENST00000360461.5	+	8	3770	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T412I|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T412I|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T331I	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	412			T -> I (in dbSNP:rs11860295).				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCAGAGGTGACCCTGAGCCCA	0.612													C|||	1222	0.24401	0.6944	0.1023	5008	,	,		17531	0.003		0.0716	False		,,,				2504	0.1616				p.T412I		Atlas-SNP	.											.	PLEKHG4	94	.	0			c.C1235T						PASS	.	C	ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR	2454,1942	587.9+/-386.8	685,1084,429	25	28	27		1235,1235,1235,992,1235	3.2	1	16	dbSNP_120	27	644,7954	158.8+/-212.2	24,596,3679	yes	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	89,89,89,89,89	709,1680,4108	TT,TC,CC		7.4901,44.1765,23.8418	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	412/1192,412/1192,412/1192,331/1111,412/1192	67316234	3098,9896	2198	4299	6497	SO:0001583	missense	25894	exon9			AGGTGACCCTGAG	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1235C>T	16.37:g.67316234C>T	ENSP00000353646:p.Thr412Ile	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	35	0.686275	NM_001129728	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	446	0.2042124542124542	346	0.7032520325203252	42	0.11602209944751381	2	0.0034965034965034965	56	0.07387862796833773	C	13.83	2.352781	0.41700	0.558235	0.074901	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10005	2.92;2.92;2.92;2.93	5.55	3.24	0.37175	.	.	.	.	.	T	0.00012	0.0000	L	0.60455	1.87	0.80722	P	0.0	D;B	0.53462	0.96;0.267	P;B	0.51229	0.663;0.086	T	0.04153	-1.0973	8	0.35671	T	0.21	.	8.5159	0.33246	0.0:0.7949:0.0:0.2051	rs11860295;rs52814135;rs58234933;rs11860295	331;412	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	I	412;412;412;331	ENSP00000353646:T412I;ENSP00000401118:T412I;ENSP00000368649:T412I;ENSP00000398030:T331I	ENSP00000353646:T412I	T	+	2	0	PLEKHG4	65873735	0.002000	0.14202	1.000000	0.80357	0.940000	0.58332	0.009000	0.13219	1.342000	0.45619	0.655000	0.94253	ACC	C|0.752;T|0.248	0.248	strong		0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		T	67316234	C	T	67316234	3	4	22	1	0	0	0	0	1	0	0	0	12071	507	18	2	1265	2	PLEKHG4	16	67316234	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50169	67316234	23038519	8312	13420										
PLEKHG4	25894	hgsc.bcm.edu	37	chr16	67318242	67318242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggaggcggctgaactggAcccccctggggcacgctttc	15	14	0	1	rs8044843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67318242A>G	ENST00000360461.5	+	11	4109	c.1574A>G	c.(1573-1575)gAc>gGc	p.D525G	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D525G|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D444G|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D525G	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	525			D -> G (in dbSNP:rs8044843).				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTGAACTGGACCCCCCTGGG	0.657													G|||	1410	0.28155	0.7511	0.1239	5008	,	,		16673	0.0387		0.1044	False		,,,				2504	0.1912				p.D525G		Atlas-SNP	.											.	PLEKHG4	94	.	0			c.A1574G						PASS	.	G	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	2684,1712		836,1012,350	21	26	24		1574,1574,1574,1331,1574	4.5	0.8	16	dbSNP_116	24	895,7703		55,785,3459	yes	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	94,94,94,94,94	891,1797,3809	GG,GA,AA		10.4094,38.9445,27.5435	benign,benign,benign,benign,benign	525/1192,525/1192,525/1192,444/1111,525/1192	67318242	3579,9415	2198	4299	6497	SO:0001583	missense	25894	exon12			AACTGGACCCCCC	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1574A>G	16.37:g.67318242A>G	ENSP00000353646:p.Asp525Gly	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	87	33	0.37931	NM_001129728	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	517	0.2367216117216117	374	0.7601626016260162	52	0.143646408839779	15	0.026223776223776224	76	0.10026385224274406	G	0.626	-0.819221	0.02776	0.610555	0.104094	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09350	3.01;3.01;3.01;2.99	4.47	4.47	0.54385	.	0.000000	0.33980	N	0.004367	T	0.00012	0.0000	N	0.00138	-2.015	0.54753	P	1.7000000000044757E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18777	-1.0326	9	0.15499	T	0.54	.	8.525	0.33300	0.1053:0.0:0.8947:0.0	rs8044843;rs58013267;rs8044843	444;525	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	G	525;525;525;444	ENSP00000353646:D525G;ENSP00000401118:D525G;ENSP00000368649:D525G;ENSP00000398030:D444G	ENSP00000353646:D525G	D	+	2	0	PLEKHG4	65875743	0.515000	0.26210	0.842000	0.33263	0.070000	0.16714	0.624000	0.24462	1.116000	0.41820	-0.197000	0.12766	GAC	A|0.727;G|0.273	0.273	strong		0.657	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		G	67318242	A	G	67318242	3	3	22	1	0	0	0	0	1	0	0	0	12071	275	10	2	1616	2	PLEKHG4	16	67318242	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2008	67318242	23036511	8313	13421										
PLEKHG4	25894	hgsc.bcm.edu	37	chr16	67320223	67320223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacagcaagaataagcctcGctccgatgccctgatgtcaa	8	13	1	2	rs3868142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67320223G>A	ENST00000360461.5	+	14	5024	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R830H|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R749H|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R830H	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	830	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		R -> H (in dbSNP:rs3868142).				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AATAAGCCTCGCTCCGATGCC	0.562													G|||	1209	0.241414	0.6838	0.1023	5008	,	,		22224	0.003		0.0716	False		,,,				2504	0.1626				p.R830H		Atlas-SNP	.											.	PLEKHG4	94	.	0			c.G2489A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2418,1978	616.5+/-392.8	666,1086,446	161	122	135		2489,2489,2489,2246,2489	2.4	0.9	16	dbSNP_108	135	646,7954	165.2+/-217.4	24,598,3678	yes	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	29,29,29,29,29	690,1684,4124	AA,AG,GG		7.5116,44.9955,23.5765	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	830/1192,830/1192,830/1192,749/1111,830/1192	67320223	3064,9932	2198	4300	6498	SO:0001583	missense	25894	exon15			AGCCTCGCTCCGA	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2489G>A	16.37:g.67320223G>A	ENSP00000353646:p.Arg830His	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	111	57	0.513514	NM_001129728	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	440	0.20146520146520147	340	0.6910569105691057	42	0.11602209944751381	2	0.0034965034965034965	56	0.07387862796833773	G	18.64	3.666874	0.67814	0.550045	0.075116	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.44	2.37	0.29283	Dbl homology (DH) domain (5);	0.000000	0.33834	N	0.004517	T	0.00012	0.0000	M	0.73962	2.25	0.80722	P	0.0	B;B	0.19706	0.03;0.038	B;B	0.15484	0.007;0.013	T	0.36016	-0.9765	9	0.72032	D	0.01	.	6.2219	0.20685	0.2146:0.0:0.6483:0.1372	rs3868142;rs61318038;rs3868142	749;830	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	H	830;830;830;749	ENSP00000353646:R830H;ENSP00000401118:R830H;ENSP00000368649:R830H;ENSP00000398030:R749H	ENSP00000353646:R830H	R	+	2	0	PLEKHG4	65877724	0.797000	0.28877	0.877000	0.34402	0.909000	0.53808	2.069000	0.41481	0.656000	0.30886	0.561000	0.74099	CGC	G|0.762;A|0.238	0.238	strong		0.562	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		A	67320223	G	A	67320223	3	1	22	1	0	0	0	0	1	0	0	0	12071	1087	38	1	2543	1	PLEKHG4	16	67320223	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1981	67320223	23034530	8314	13422										
PLEKHG4	25894	hgsc.bcm.edu	37	chr16	67320920	67320920	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatggcagaccttggtctCactgagtgctgtgggaacag	14	9	1	3	rs785029	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67320920C>T	ENST00000360461.5	+	17	5478	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L	PLEKHG4_ENST00000379344.3_Silent_p.L981L|PLEKHG4_ENST00000450733.1_Silent_p.L900L|PLEKHG4_ENST00000427155.2_Silent_p.L981L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	981	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACCTTGGTCTCACTGAGTGCT	0.632													C|||	121	0.0241613	0.0091	0.0432	5008	,	,		19662	0.0		0.0577	False		,,,				2504	0.0215				p.L981L		Atlas-SNP	.											.	PLEKHG4	94	.	0			c.C2943T						PASS	.	C	,,,,	94,4302	77.3+/-115.6	0,94,2104	48	49	49		2943,2943,2943,2700,2943	1.9	1	16	dbSNP_86	49	598,8002	157.7+/-211.4	15,568,3717	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	,,,,	15,662,5821	TT,TC,CC		6.9535,2.1383,5.3247	,,,,	981/1192,981/1192,981/1192,900/1111,981/1192	67320920	692,12304	2198	4300	6498	SO:0001819	synonymous_variant	25894	exon18			TGGTCTCACTGAG	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2943C>T	16.37:g.67320920C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	78	42	0.538462	NM_001129728	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	CCDS32466.1																																																																																			C|0.960;T|0.040	0.040	strong		0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		T	67320920	C	T	67320920	2	4	22	1	0	0	0	0	0	0	0	1	12071	813	29	2		2	PLEKHG4	16	67320920	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	697	67320920	23033833	8315	13423										
KCTD19	146212	hgsc.bcm.edu	37	chr16	67324827	67324827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctcctgggtgtgccggtcAtccttgaagccggtgatggc	15	12	1	2	rs8053912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67324827A>G	ENST00000304372.5	-	15	2683	c.2628T>C	c.(2626-2628)gaT>gaC	p.D876D		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	876					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGTGCCGGTCATCCTTGAAGC	0.612													G|||	1249	0.249401	0.7118	0.1037	5008	,	,		20282	0.003		0.0716	False		,,,				2504	0.1646				p.D876D		Atlas-SNP	.											.	KCTD19	82	.	0			c.T2628C						PASS	.	G		2198,1806		601,996,405	53	60	58		2628	0.9	1	16	dbSNP_116	58	619,7735		22,575,3580	no	coding-synonymous	KCTD19	NM_001100915.1		623,1571,3985	GG,GA,AA		7.4096,45.1049,22.795		876/927	67324827	2817,9541	2002	4177	6179	SO:0001819	synonymous_variant	146212	exon15			CCGGTCATCCTTG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2628T>C	16.37:g.67324827A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	100	46	0.46	NM_001100915	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																			A|0.834;G|0.166	0.166	strong		0.612	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		G	67324827	A	G	67324827	2	3	22	1	0	0	0	0	0	0	0	1	8106	214	8	2		2	KCTD19	16	67324827	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3907	67324827	23029926	8316	13424										
KCTD19	146212	hgsc.bcm.edu	37	chr16	67325711	67325711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtccacctcactggcctCgggcagaggctgctcagggg	15	14	2	1	rs16957289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67325711C>T	ENST00000304372.5	-	13	2303	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	750			E -> K (in dbSNP:rs16957289).		protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCACTGGCCTCGGGCAGAGGC	0.502													C|||	497	0.0992412	0.2564	0.0548	5008	,	,		18331	0.003		0.0388	False		,,,				2504	0.0798				p.E750K		Atlas-SNP	.											KCTD19,brain,glioma,0,1	KCTD19	82	1	0			c.G2248A						PASS	.	C	LYS/GLU	810,2984		91,628,1178	32	34	33		2248	2.9	0.8	16	dbSNP_123	33	331,7905		8,315,3795	yes	missense	KCTD19	NM_001100915.1	56	99,943,4973	TT,TC,CC		4.0189,21.3495,9.4846	benign	750/927	67325711	1141,10889	1897	4118	6015	SO:0001583	missense	146212	exon13			TGGCCTCGGGCAG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2248G>A	16.37:g.67325711C>T	ENSP00000305702:p.Glu750Lys	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	84	37	0.440476	NM_001100915	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	184	0.08424908424908426	132	0.2682926829268293	21	0.058011049723756904	2	0.0034965034965034965	29	0.03825857519788918	C	13.26	2.183236	0.38511	0.213495	0.040189	ENSG00000168676	ENST00000304372	T	0.60797	0.16	4.97	2.89	0.33648	.	0.536806	0.16994	N	0.191166	T	0.00012	0.0000	N	0.14661	0.345	0.48975	P	2.609999999999557E-4	B	0.23806	0.091	B	0.17098	0.017	T	0.13202	-1.0518	9	0.59425	D	0.04	-3.6579	5.2969	0.15756	0.0:0.6895:0.0:0.3105	rs16957289;rs52809534;rs16957289	750	Q17RG1	KCD19_HUMAN	K	750	ENSP00000305702:E750K	ENSP00000305702:E750K	E	-	1	0	KCTD19	65883212	0.979000	0.34478	0.827000	0.32855	0.436000	0.31835	1.058000	0.30504	0.558000	0.29135	0.462000	0.41574	GAG	C|0.929;T|0.071	0.071	strong		0.502	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		T	67325711	C	T	67325711	3	4	22	1	0	0	0	0	1	0	0	0	8106	893	31	1	548	1	KCTD19	16	67325711	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	884	67325711	23029042	8317	13425										
LRRC36	55282	hgsc.bcm.edu	37	chr16	67397580	67397580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcagggcaatggtacacGtgatcagaaattagacacct	9	9	2	3	rs9922085	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67397580G>C	ENST00000329956.6	+	6	684	c.665G>C	c.(664-666)cGt>cCt	p.R222P	LRRC36_ENST00000435835.3_Missense_Mutation_p.R101P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.R101P|LRRC36_ENST00000290940.7_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	222			R -> P (in dbSNP:rs9922085).							endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AATGGTACACGTGATCAGAAA	0.413													C|||	1032	0.20607	0.6415	0.085	5008	,	,		20907	0.003		0.0408	False		,,,				2504	0.0828				p.R222P		Atlas-SNP	.											.	LRRC36	68	.	0			c.G665C						PASS	.	C	PRO/ARG,PRO/ARG	2214,2182	586.8+/-386.5	564,1086,548	130	118	122		302,665	3.8	0.6	16	dbSNP_119	122	368,8232	803.0+/-407.3	9,350,3941	yes	missense,missense	LRRC36	NM_001161575.1,NM_018296.5	103,103	573,1436,4489	CC,CG,GG		4.2791,49.636,19.8677	benign,benign	101/634,222/755	67397580	2582,10414	2198	4300	6498	SO:0001583	missense	55282	exon6			GTACACGTGATCA	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.665G>C	16.37:g.67397580G>C	ENSP00000329943:p.Arg222Pro	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	110	40	0.363636	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	381	0.17445054945054944	314	0.6382113821138211	34	0.09392265193370165	2	0.0034965034965034965	31	0.040897097625329816	C	1.368	-0.586790	0.03827	0.50364	0.042791	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.28666	3.3;1.6	5.72	3.78	0.43462	.	0.559885	0.16371	N	0.217329	T	0.00012	0.0000	N	0.00368	-1.59	0.45791	P	0.0013260000000000494	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40270	-0.9572	9	0.08599	T	0.76	0.0108	5.464	0.16632	0.0:0.662:0.1656:0.1724	rs9922085;rs59066753;rs9922085	101;101;222	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	P	222;101	ENSP00000329943:R222P;ENSP00000411122:R101P	ENSP00000329943:R222P	R	+	2	0	LRRC36	65955081	0.613000	0.27009	0.564000	0.28396	0.516000	0.34256	0.861000	0.27885	0.780000	0.33566	-0.215000	0.12644	CGT	G|0.813;C|0.187	0.187	strong		0.413	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		C	67397580	G	C	67397580	3	2	22	1	0	0	0	0	1	0	0	0	8990	1145	40	4	715	4	LRRC36	16	67397580	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71869	67397580	22957173	8318	13426										
LRRC36	55282	hgsc.bcm.edu	37	chr16	67409180	67409180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacctgggtagtttgcacGgtttggctggaaaccacagt	14	8	0	1	rs8052655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67409180G>A	ENST00000329956.6	+	10	1544	c.1525G>A	c.(1525-1527)Ggt>Agt	p.G509S	LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.G388S|LRRC36_ENST00000541146.1_Silent_p.T29T|LRRC36_ENST00000290940.7_Missense_Mutation_p.G241S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	509			G -> S (in dbSNP:rs8052655).							endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TAGTTTGCACGGTTTGGCTGG	0.468													G|||	1036	0.206869	0.6437	0.085	5008	,	,		15268	0.004		0.0408	False		,,,				2504	0.0828				p.G509S		Atlas-SNP	.											.	LRRC36	68	.	0			c.G1525A						PASS	.	G	SER/GLY,SER/GLY	2213,2183	589.4+/-387.1	563,1087,548	184	201	195		1162,1525	5.7	1	16	dbSNP_116	195	368,8232	121.7+/-180.7	9,350,3941	yes	missense,missense	LRRC36	NM_001161575.1,NM_018296.5	56,56	572,1437,4489	AA,AG,GG		4.2791,49.6588,19.86	probably-damaging,probably-damaging	388/634,509/755	67409180	2581,10415	2198	4300	6498	SO:0001583	missense	55282	exon10			TTGCACGGTTTGG	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1525G>A	16.37:g.67409180G>A	ENSP00000329943:p.Gly509Ser	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	46	24	0.521739	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	381	0.17445054945054944	314	0.6382113821138211	34	0.09392265193370165	2	0.0034965034965034965	31	0.040897097625329816	G	25.1	4.603119	0.87157	0.503412	0.042791	ENSG00000159708	ENST00000329956;ENST00000290940	T;T	0.54479	2.95;0.57	5.69	5.69	0.88448	.	0.070932	0.52532	D	0.000063	T	0.00012	0.0000	L	0.51422	1.61	0.09310	P	1.0	D;D	0.89917	0.999;1.0	D;D	0.72625	0.92;0.978	T	0.51872	-0.8650	9	0.66056	D	0.02	-13.0546	15.3241	0.74147	0.0:0.0:1.0:0.0	rs8052655;rs52836757;rs8052655	388;509	Q1X8D7-2;Q1X8D7	.;LRC36_HUMAN	S	509;241	ENSP00000329943:G509S;ENSP00000290940:G241S	ENSP00000290940:G241S	G	+	1	0	LRRC36	65966681	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.268000	0.51585	2.699000	0.92147	0.591000	0.81541	GGT	G|0.790;A|0.210	0.210	strong		0.468	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		A	67409180	G	A	67409180	3	1	22	1	0	0	0	0	1	0	0	0	8990	1116	39	1	1591	1	LRRC36	16	67409180	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11600	67409180	22945573	8319	13427										
LRRC36	55282	hgsc.bcm.edu	37	chr16	67418957	67418957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtcagtatctaatacagAgcgtcttggatgctgcccca	10	11	3	1	rs16957415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67418957A>G	ENST00000329956.6	+	14	2249	c.2230A>G	c.(2230-2232)Agc>Ggc	p.S744G	LRRC36_ENST00000435835.3_Missense_Mutation_p.S519G|LRRC36_ENST00000563189.1_Missense_Mutation_p.S623G|LRRC36_ENST00000541146.1_Missense_Mutation_p.S216G|LRRC36_ENST00000290940.7_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	744			S -> G (in dbSNP:rs16957415).							endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTAATACAGAGCGTCTTGGA	0.542													A|||	440	0.0878594	0.2148	0.0476	5008	,	,		17925	0.003		0.0388	False		,,,				2504	0.0828				p.S744G		Atlas-SNP	.											LRRC36,NS,carcinoma,-2,1	LRRC36	68	1	0			c.A2230G						scavenged	.	A	GLY/SER,GLY/SER	784,3612	315.2+/-294.0	75,634,1489	99	87	91		1867,2230	4.6	0.9	16	dbSNP_123	91	353,8247	118.8+/-178.2	9,335,3956	yes	missense,missense	LRRC36	NM_001161575.1,NM_018296.5	56,56	84,969,5445	GG,GA,AA		4.1047,17.8344,8.7488	benign,benign	623/634,744/755	67418957	1137,11859	2198	4300	6498	SO:0001583	missense	55282	exon14			ATACAGAGCGTCT	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.2230A>G	16.37:g.67418957A>G	ENSP00000329943:p.Ser744Gly	Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	149	95	0.637584	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	162	0.07417582417582418	110	0.22357723577235772	20	0.055248618784530384	2	0.0034965034965034965	30	0.0395778364116095	A	11.20	1.569672	0.28003	0.178344	0.041047	ENSG00000159708	ENST00000329956;ENST00000541146;ENST00000435835	T;T;T	0.54071	3.01;0.59;1.3	5.65	4.56	0.56223	.	0.412785	0.23642	N	0.046018	T	0.00039	0.0001	L	0.36672	1.1	0.38483	P	0.05221399999999998	B;B;B;B	0.10296	0.001;0.003;0.003;0.003	B;B;B;B	0.11329	0.004;0.006;0.006;0.004	T	0.05937	-1.0855	9	0.44086	T	0.13	-1.1703	8.3398	0.32237	0.9134:0.0:0.0866:0.0	rs16957415;rs52835857;rs16957415	216;519;623;744	B7Z4G3;B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	G	744;216;519	ENSP00000329943:S744G;ENSP00000445861:S216G;ENSP00000411122:S519G	ENSP00000329943:S744G	S	+	1	0	LRRC36	65976458	0.782000	0.28689	0.851000	0.33527	0.110000	0.19582	1.090000	0.30902	1.152000	0.42452	0.533000	0.62120	AGC	A|0.907;G|0.093	0.093	strong		0.542	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		G	67418957	A	G	67418957	3	3	22	1	0	0	0	0	1	0	0	0	8990	304	11	3	2312	3	LRRC36	16	67418957	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9777	67418957	22935796	8320	13428										
TPPP3	51673	hgsc.bcm.edu	37	chr16	67424122	67424122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcctgcattcttgtaggcGctcacgtagccactgtcgtc	11	13	2	0	rs11552319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67424122G>A	ENST00000564104.1	-	3	1327	c.486C>T	c.(484-486)agC>agT	p.S162S	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Silent_p.S162S|TPPP3_ENST00000393957.2_Silent_p.S162S|TPPP3_ENST00000562206.1_Silent_p.S162S			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	162					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTTGTAGGCGCTCACGTAGC	0.627													g|||	477	0.0952476	0.2413	0.0504	5008	,	,		18160	0.003		0.0388	False		,,,				2504	0.0828				p.S162S		Atlas-SNP	.											.	TPPP3	13	.	0			c.C486T						PASS	.		,	890,3506	343.8+/-307.8	91,708,1399	109	85	93		486,486	0.6	1	16	dbSNP_120	93	354,8246	119.2+/-178.6	9,336,3955	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	100,1044,5354	AA,AG,GG		4.1163,20.2457,9.5722	,	162/177,162/177	67424122	1244,11752	2198	4300	6498	SO:0001819	synonymous_variant	51673	exon5			GTAGGCGCTCACG	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.486C>T	16.37:g.67424122G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_016140	Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	CCDS10835.1																																																																																			G|0.897;A|0.103	0.103	strong		0.627	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		A	67424122	G	A	67424122	2	1	22	1	0	0	0	0	0	0	0	1	16412	1078	38	1		1	TPPP3	16	67424122	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5165	67424122	22930631	8321	13429										
ZDHHC1	29800	hgsc.bcm.edu	37	chr16	67440289	67440289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctgggctgtgccggtgcCgtccacacactcttctcagg	12	16	2	0	rs8058306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67440289C>T	ENST00000348579.2	-	3	407	c.66G>A	c.(64-66)acG>acA	p.T22T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	22					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTGCCGGTGCCGTCCACACAC	0.622													C|||	361	0.0720847	0.205	0.013	5008	,	,		17815	0.003		0.003	False		,,,				2504	0.0767				p.T22T		Atlas-SNP	.											.	ZDHHC1	28	.	0			c.G66A						PASS	.	C		710,3678		52,606,1536	26	23	24		66	-9.3	0.1	16	dbSNP_116	24	11,8577		0,11,4283	no	coding-synonymous	ZDHHC1	NM_013304.2		52,617,5819	TT,TC,CC		0.1281,16.1805,5.5564		22/486	67440289	721,12255	2194	4294	6488	SO:0001819	synonymous_variant	29800	exon3			CGGTGCCGTCCAC	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.66G>A	16.37:g.67440289C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	161	71	0.440994	NM_013304	O15461	Silent	SNP	ENST00000348579.2	37	CCDS10836.1																																																																																			C|0.924;T|0.076	0.076	strong		0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		T	67440289	C	T	67440289	2	4	22	1	0	0	0	0	0	0	0	1	17597	639	23	1		1	ZDHHC1	16	67440289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16167	67440289	22914464	8322	13430										
HSD11B2	3291	hgsc.bcm.edu	37	chr16	67469733	67469733	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagttcaccaaggcccacacCaccagcaccggtcagtggca	10	16	2	0	rs5479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67469733C>A	ENST00000326152.5	+	2	600	c.468C>A	c.(466-468)acC>acA	p.T156T	ATP6V0D1_ENST00000567694.1_5'Flank|HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	156					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		AGGCCCACACCACCAGCACCG	0.622													C|||	464	0.0926518	0.233	0.0504	5008	,	,		20001	0.003		0.0368	False		,,,				2504	0.0828				p.T156T		Atlas-SNP	.											.	HSD11B2	13	.	0			c.C468A	GRCh37	CM057710	HSD11B2	M	rs5479	PASS	.	C		833,3563	323.7+/-298.2	89,655,1454	47	40	42		468	-1	0.9	16	dbSNP_52	42	351,8249	117.6+/-177.1	9,333,3958	no	coding-synonymous	HSD11B2	NM_000196.3		98,988,5412	AA,AC,CC		4.0814,18.949,9.1105		156/406	67469733	1184,11812	2198	4300	6498	SO:0001819	synonymous_variant	3291	exon2			CCACACCACCAGC	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.468C>A	16.37:g.67469733C>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	39	0.609375	NM_000196	A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	ENST00000326152.5	37	CCDS10837.1																																																																																			C|0.902;A|0.098	0.098	strong		0.622	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		A	67469733	C	A	67469733	2	1	22	1	0	0	0	0	0	0	0	1	7377	581	21	4		4	HSD11B2	16	67469733	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29444	67469733	22885020	8323	13431										
AGRP	181	hgsc.bcm.edu	37	chr16	67517179	67517179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcacactgacctgggagCtctgggagcagggcctggtc	15	12	2	1	rs34123523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67517179C>T	ENST00000290953.2	-	2	422	c.123G>A	c.(121-123)gaG>gaA	p.E41E	RP11-297D21.4_ENST00000602596.1_RNA|ATP6V0D1_ENST00000540149.1_5'Flank|ATP6V0D1_ENST00000290949.3_5'Flank	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related neuropeptide	41					adult feeding behavior (GO:0008343)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|hormone-mediated signaling pathway (GO:0009755)|maternal process involved in female pregnancy (GO:0060135)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of feeding behavior (GO:2000253)|regulation of feeding behavior (GO:0060259)|response to insulin (GO:0032868)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		GACCTGGGAGCTCTGGGAGCA	0.642													C|||	550	0.109824	0.2927	0.0591	5008	,	,		15113	0.003		0.0378	False		,,,				2504	0.0828				p.E41E		Atlas-SNP	.											.	AGRP	8	.	0			c.G123A						PASS	.	C		1036,3354		118,800,1277	15	16	16		123	1.3	0.6	16	dbSNP_126	16	358,8236		9,340,3948	no	coding-synonymous	AGRP	NM_001138.1		127,1140,5225	TT,TC,CC		4.1657,23.5991,10.7363		41/133	67517179	1394,11590	2195	4297	6492	SO:0001819	synonymous_variant	181	exon2			TGGGAGCTCTGGG	U88063	CCDS10839.1	16q22	2014-07-15	2014-07-15		ENSG00000159723	ENSG00000159723		"Endogenous ligands"	330	protein-coding gene	gene with protein product		602311	"agouti (mouse) related protein", "agouti related protein homolog (mouse)"			9119224, 9311920	Standard	NM_001138		Approved	Agrt, ART, ASIP2	uc002etg.1	O00253	OTTHUMG00000137509	ENST00000290953.2:c.123G>A	16.37:g.67517179C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	94	54	0.574468	NM_001138	O15459|Q2TBD9	Silent	SNP	ENST00000290953.2	37	CCDS10839.1																																																																																			C|0.877;T|0.123	0.123	strong		0.642	AGRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268828.1			T	67517179	C	T	67517179	2	4	22	1	0	0	0	0	0	0	0	1	398	796	28	2		2	AGRP	16	67517179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47446	67517179	22837574	8324	13432										
EDC4	23644	hgsc.bcm.edu	37	chr16	67911517	67911517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagagcgaagactgctgTgaggagagcagcccaacagt	16	8	0	4	rs8060686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67911517T>C	ENST00000358933.5	+	6	986	c.747T>C	c.(745-747)tgT>tgC	p.C249C	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	249					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AAGACTGCTGTGAGGAGAGCA	0.602													C|||	1637	0.326877	0.73	0.2867	5008	,	,		21883	0.0685		0.1799	False		,,,				2504	0.228				p.C249C		Atlas-SNP	.											.	EDC4	101	.	0			c.T747C						PASS	.	C		2778,1618	500.5+/-364.7	876,1026,296	75	79	78	http://www.ncbi.nlm.nih.gov/pubmed?term	747	1.6	1	16	dbSNP_116	78	1513,7087	747.6+/-407.3	164,1185,2951	yes	coding-synonymous	EDC4	NM_014329.3		1040,2211,3247	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	17.593,36.8062,33.0179		249/1402	67911517	4291,8705	2198	4300	6498	SO:0001819	synonymous_variant	23644	exon6			CTGCTGTGAGGAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.747T>C	16.37:g.67911517T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	109	60	0.550459	NM_014329	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	CCDS10849.1																																																																																			T|0.669;C|0.331	0.331	strong		0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		C	67911517	T	C	67911517	2	2	22	1	0	0	0	0	0	0	0	1	4908	1702	59	2		2	EDC4	16	67911517	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	394338	67911517	22443236	8325	13433										
NRN1L	123904	hgsc.bcm.edu	37	chr16	67919930	67919930	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcctgtcaggctgtccggAggaggcagctgcagtgtggg	19	9	1	0	rs73593844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67919930A>C	ENST00000339176.3	+	3	365	c.266A>C	c.(265-267)gAg>gCg	p.E89A	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_Silent_p.R16R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	89					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCTGTCCGGAGGAGGCAGCT	0.582													A|||	314	0.0626997	0.1982	0.0159	5008	,	,		16226	0.001		0.003	False		,,,				2504	0.0378				p.E89A		Atlas-SNP	.											.	NRN1L	13	.	0			c.A266C						PASS	.	A	ALA/GLU	810,3586	319.6+/-296.2	76,658,1464	61	55	57		266	4.9	0.9	16	dbSNP_130	57	9,8591	4.3+/-15.6	0,9,4291	yes	missense	NRN1L	NM_198443.1	107	76,667,5755	CC,CA,AA		0.1047,18.4258,6.3019	probably-damaging	89/166	67919930	819,12177	2198	4300	6498	SO:0001583	missense	123904	exon3			GTCCGGAGGAGGC	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.266A>C	16.37:g.67919930A>C	ENSP00000342411:p.Glu89Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_198443	Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	CCDS10850.1	102	0.046703296703296704	97	0.19715447154471544	5	0.013812154696132596	0	0.0	0	0.0	A	19.67	3.871364	0.72065	0.184258	0.001047	ENSG00000188038	ENST00000339176	.	.	.	4.86	4.86	0.63082	.	0.470389	0.20557	N	0.089986	T	0.00109	0.0003	M	0.77820	2.39	0.09310	P	0.99999999389136	P	0.36837	0.571	B	0.33960	0.173	T	0.16041	-1.0416	8	0.66056	D	0.02	.	12.9814	0.58567	1.0:0.0:0.0:0.0	.	89	Q496H8	NRN1L_HUMAN	A	89	.	ENSP00000342411:E89A	E	+	2	0	NRN1L	66477431	1.000000	0.71417	0.851000	0.33527	0.690000	0.40134	2.938000	0.48987	1.953000	0.56701	0.379000	0.24179	GAG	A|0.944;C|0.056	0.056	strong		0.582	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		C	67919930	A	C	67919930	3	2	22	1	0	0	0	0	1	0	0	0	10659	304	11	5	276	5	NRN1L	16	67919930	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8413	67919930	22434823	8326	13434										
CTRL	1506	hgsc.bcm.edu	37	chr16	67964203	67964203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaagccacctgctgcagaTgtgctggtgtcacattgcct	11	12	1	1	rs1134760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67964203T>C	ENST00000574481.1	-	6	1079	c.518A>G	c.(517-519)cAt>cGt	p.H173R	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	173	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		H -> R (in dbSNP:rs1134760).		digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTGCTGCAGATGTGCTGGTGT	0.612													C|||	1331	0.265775	0.4962	0.2277	5008	,	,		18645	0.0972		0.1829	False		,,,				2504	0.2403				p.H173R		Atlas-SNP	.											.	CTRL	11	.	0			c.A518G						PASS	.	C	ARG/HIS	2040,2356	605.6+/-390.6	476,1088,634	53	50	51		518	-1.8	0	16	dbSNP_86	51	1517,7083	742.6+/-407.2	165,1187,2948	yes	missense	CTRL	NM_001907.2	29	641,2275,3582	CC,CT,TT		17.6395,46.4058,27.37	benign	173/265	67964203	3557,9439	2198	4300	6498	SO:0001583	missense	1506	exon6			TGCAGATGTGCTG		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.518A>G	16.37:g.67964203T>C	ENSP00000458537:p.His173Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_001907		Missense_Mutation	SNP	ENST00000574481.1	37	CCDS10852.1	546	0.25	255	0.5182926829268293	85	0.23480662983425415	69	0.12062937062937062	137	0.18073878627968337	C	15.21	2.766588	0.49574	0.464058	0.176395	ENSG00000141086	ENST00000319955	.	.	.	5.77	-1.81	0.07882	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.533087	0.20532	N	0.090498	T	0.00012	0.0000	N	0.04787	-0.16	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45745	-0.9240	8	0.19147	T	0.46	-7.6426	0.634	0.00799	0.202:0.2804:0.2516:0.266	rs1134760;rs2301246;rs3178755;rs3197102;rs11552952;rs16957618;rs16957622;rs61279753;rs1134760	173	P40313	CTRL_HUMAN	R	173	.	ENSP00000322629:H173R	H	-	2	0	CTRL	66521704	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-1.500000	0.02283	-0.128000	0.11641	-0.186000	0.12905	CAT	T|0.738;C|0.262	0.262	strong		0.612	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			C	67964203	T	C	67964203	3	2	22	1	0	0	0	0	1	0	0	0	4028	1464	51	2	284	2	CTRL	16	67964203	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44273	67964203	22390550	8327	13435										
PSMB10	5699	hgsc.bcm.edu	37	chr16	67969531	67969531	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggagccatggggatgcacAccgtagagctgcggtccagt	15	10	0	1	rs14178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67969531A>G	ENST00000358514.4	-	5	790	c.453T>C	c.(451-453)ggT>ggC	p.G151G	CTC-479C5.12_ENST00000573493.1_Missense_Mutation_p.V5A	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	151					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GGGGATGCACACCGTAGAGCT	0.652													G|||	734	0.146565	0.4312	0.0793	5008	,	,		17573	0.006		0.0457	False		,,,				2504	0.0583				p.G151G		Atlas-SNP	.											PSMB10,colon,carcinoma,0,1	PSMB10	19	1	0			c.T453C						scavenged	.	G		1633,2763	658.5+/-400.4	312,1009,877	111	112	112		453	-5.4	0	16	dbSNP_52	112	429,8171	799.3+/-407.4	13,403,3884	no	coding-synonymous	PSMB10	NM_002801.3		325,1412,4761	GG,GA,AA		4.9884,37.1474,15.8664		151/274	67969531	2062,10934	2198	4300	6498	SO:0001819	synonymous_variant	5699	exon5			ATGCACACCGTAG	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.453T>C	16.37:g.67969531A>G		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	126	54	0.428571	NM_002801	B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	CCDS10853.1																																																																																			A|0.831;G|0.169	0.169	strong		0.652	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		G	67969531	A	G	67969531	2	3	22	1	0	0	0	0	0	0	0	1	12675	146	6	2		2	PSMB10	16	67969531	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5328	67969531	22385222	8328	13436										
PSMB10	5699	hgsc.bcm.edu	37	chr16	67969930	67969930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctcgcggcccgtagataAcgcgtgtagctccatcttgg	14	12	1	1	rs20549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67969930A>G	ENST00000358514.4	-	4	656	c.319T>C	c.(319-321)Tta>Cta	p.L107L	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	107					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	CCCGTAGATAACGCGTGTAGC	0.672													G|||	1594	0.318291	0.6861	0.2406	5008	,	,		14862	0.0972		0.1839	False		,,,				2504	0.2423				p.L107L		Atlas-SNP	.											.	PSMB10	19	.	0			c.T319C						PASS	.	G		2610,1786		782,1046,370	29	34	32		319	2	1	16	dbSNP_67	32	1502,7088		162,1178,2955	no	coding-synonymous	PSMB10	NM_002801.3		944,2224,3325	GG,GA,AA		17.4854,40.6278,31.6649		107/274	67969930	4112,8874	2198	4295	6493	SO:0001819	synonymous_variant	5699	exon4			TAGATAACGCGTG	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.319T>C	16.37:g.67969930A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_002801	B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	CCDS10853.1																																																																																			T|0.000;G|0.310;A|0.690	0.310	strong		0.672	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		G	67969930	A	G	67969930	2	3	22	1	0	0	0	0	0	0	0	1	12675	40	2	2		2	PSMB10	16	67969930	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	399	67969930	22384823	8329	13437										
SLC12A4	6560	hgsc.bcm.edu	37	chr16	67980969	67980969	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgcgggtacttcacgtgGaggtcctcgtccagcttcag	13	13	2	0	rs11860125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67980969G>C	ENST00000316341.3	-	17	2252	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	SLC12A4_ENST00000537830.2_Silent_p.L698L|SLC12A4_ENST00000541864.2_Silent_p.L673L|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000572037.1_Silent_p.L656L|SLC12A4_ENST00000422611.2_Silent_p.L706L|SLC12A4_ENST00000338335.3_Silent_p.L704L|SLC12A4_ENST00000576616.1_Silent_p.L704L|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	704					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTCACGTGGAGGTCCTCGT	0.657													C|||	741	0.147963	0.4297	0.0793	5008	,	,		16905	0.006		0.0467	False		,,,				2504	0.0665				p.L706L		Atlas-SNP	.											.	SLC12A4	81	.	0			c.C2118G						PASS	.	C	,,,,	1608,2782	627.4+/-394.9	300,1008,887	26	22	23		2112,2118,2094,2019,2112	-9.4	0.3	16	dbSNP_120	23	422,8176	771.7+/-407.7	12,398,3889	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	312,1406,4776	CC,CG,GG		4.9081,36.6287,15.6298	,,,,	704/1080,706/1088,698/1080,673/1055,704/1086	67980969	2030,10958	2195	4299	6494	SO:0001819	synonymous_variant	6560	exon16			CACGTGGAGGTCC		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2112C>G	16.37:g.67980969G>C		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	30	14	0.466667	NM_001145962	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																			G|0.849;C|0.151	0.151	strong		0.657	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		C	67980969	G	C	67980969	2	2	22	1	0	0	0	0	0	0	0	1	14385	1161	41	4		4	SLC12A4	16	67980969	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11039	67980969	22373784	8330	13438										
SLC12A4	6560	hgsc.bcm.edu	37	chr16	67984589	67984589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacaccctcaatgcaggcAccaaagagaaccacactgct	6	16	1	1	rs11542821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:67984589A>G	ENST00000316341.3	-	11	1562	c.1422T>C	c.(1420-1422)ggT>ggC	p.G474G	SLC12A4_ENST00000537830.2_Silent_p.G468G|SLC12A4_ENST00000541864.2_Silent_p.G443G|SLC12A4_ENST00000572037.1_Silent_p.G426G|SLC12A4_ENST00000422611.2_Silent_p.G476G|SLC12A4_ENST00000338335.3_Silent_p.G474G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000576616.1_Silent_p.G474G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	474					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAATGCAGGCACCAAAGAGAA	0.622													G|||	743	0.148363	0.4312	0.0793	5008	,	,		18579	0.006		0.0467	False		,,,				2504	0.0665				p.G476G		Atlas-SNP	.											.	SLC12A4	81	.	0			c.T1428C						PASS	.	G	,,,,	1615,2781	637.4+/-396.7	303,1009,886	108	97	100		1422,1428,1404,1329,1422	-5.9	1	16	dbSNP_120	100	431,8169	780.6+/-407.7	13,405,3882	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	316,1414,4768	GG,GA,AA		5.0116,36.7379,15.7433	,,,,	474/1080,476/1088,468/1080,443/1055,474/1086	67984589	2046,10950	2198	4300	6498	SO:0001819	synonymous_variant	6560	exon10			GCAGGCACCAAAG		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1422T>C	16.37:g.67984589A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	161	78	0.484472	NM_001145962	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																			A|0.851;G|0.149	0.149	strong		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		G	67984589	A	G	67984589	2	3	22	1	0	0	0	0	0	0	0	1	14385	146	6	2		2	SLC12A4	16	67984589	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3620	67984589	22370164	8331	13439										
DPEP3	64180	hgsc.bcm.edu	37	chr16	68011867	68011867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcttgtcaatccgctgaCgttggtgtacatgtggtgtc	12	8	1	1	rs16957670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68011867C>T	ENST00000268793.4	-	5	1178	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	244					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AATCCGCTGACGTTGGTGTAC	0.537													C|||	277	0.0553115	0.1664	0.0144	5008	,	,		22471	0.001		0.007	False		,,,				2504	0.0399				p.V269I		Atlas-SNP	.											.	DPEP3	48	.	0			c.G805A						PASS	.	C	ILE/VAL,ILE/VAL	673,3723	282.5+/-276.6	58,557,1583	225	149	175		805,805	-3	0.5	16	dbSNP_123	175	31,8569	19.2+/-60.6	0,31,4269	yes	missense,missense	DPEP3	NM_022357.3,NM_001129758.1	29,29	58,588,5852	TT,TC,CC		0.3605,15.3094,5.4171	benign,benign	269/514,269/513	68011867	704,12292	2198	4300	6498	SO:0001583	missense	64180	exon5			CGCTGACGTTGGT	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.805G>A	16.37:g.68011867C>T	ENSP00000268793:p.Val269Ile	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	149	79	0.530201	NM_001129758	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	88	0.040293040293040296	81	0.16463414634146342	5	0.013812154696132596	0	0.0	2	0.002638522427440633	C	0.922	-0.715585	0.03206	0.153094	0.003605	ENSG00000141096	ENST00000268793	T	0.22134	1.97	4.1	-3.04	0.05412	.	0.836197	0.11124	N	0.597112	T	0.00039	0.0001	N	0.16743	0.435	0.80722	P	0.0	B	0.16166	0.016	B	0.18561	0.022	T	0.44050	-0.9353	9	0.15952	T	0.53	.	9.4449	0.38690	0.0:0.3184:0.0:0.6816	rs16957670;rs16957670	244	Q9H4B8	DPEP3_HUMAN	I	269	ENSP00000268793:V269I	ENSP00000268793:V269I	V	-	1	0	DPEP3	66569368	0.014000	0.17966	0.468000	0.27192	0.140000	0.21249	-1.014000	0.03641	-0.515000	0.06479	-0.300000	0.09419	GTC	C|0.936;T|0.064	0.064	strong		0.537	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		T	68011867	C	T	68011867	3	4	22	1	0	0	0	0	1	0	0	0	4715	536	19	1	760	1	DPEP3	16	68011867	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27278	68011867	22342886	8332	13440										
DPEP2	64174	hgsc.bcm.edu	37	chr16	68024850	68024850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgccacagcatctgagacAtgggataagtctaccatcat	9	11	3	1	rs10500542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68024850A>G	ENST00000572888.1	-	6	1433	c.783T>C	c.(781-783)caT>caC	p.H261H	DPEP2_ENST00000393847.1_Silent_p.H261H|DPEP2_ENST00000412757.2_Silent_p.H261H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	261					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CATCTGAGACATGGGATAAGT	0.572													G|||	339	0.0676917	0.2103	0.0202	5008	,	,		19215	0.001		0.007	False		,,,				2504	0.0399				p.H261H		Atlas-SNP	.											.	DPEP2	43	.	0			c.T783C						PASS	.	G		847,3549	332.0+/-302.3	91,665,1442	114	113	113		783	-2	1	16	dbSNP_119	113	29,8571	17.9+/-57.8	0,29,4271	no	coding-synonymous	DPEP2	NM_022355.2		91,694,5713	GG,GA,AA		0.3372,19.2675,6.7405		261/487	68024850	876,12120	2198	4300	6498	SO:0001819	synonymous_variant	64174	exon7			TGAGACATGGGAT	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.783T>C	16.37:g.68024850A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	151	67	0.443709	NM_022355	B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	CCDS10857.1																																																																																			A|0.942;G|0.058	0.058	strong		0.572	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		G	68024850	A	G	68024850	2	3	22	1	0	0	0	0	0	0	0	1	4714	214	8	2		2	DPEP2	16	68024850	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12983	68024850	22329903	8333	13441										
NFATC3	4775	hgsc.bcm.edu	37	chr16	68224786	68224786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcagggtgttcacatgaCagtgtactgtcaggacagag	13	7	3	2	rs77352556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68224786C>G	ENST00000346183.3	+	9	2238	c.2214C>G	c.(2212-2214)gaC>gaG	p.D738E	SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.D738E|NFATC3_ENST00000329524.4_Missense_Mutation_p.D738E|NFATC3_ENST00000349223.5_Missense_Mutation_p.D738E	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	738					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTTCACATGACAGTGTACTGT	0.478													C|||	46	0.0091853	0.0333	0.0029	5008	,	,		21238	0.0		0.0	False		,,,				2504	0.0				p.D738E		Atlas-SNP	.											.	NFATC3	190	.	0			c.C2214G						PASS	.	C	GLU/ASP,GLU/ASP,GLU/ASP	88,4308	74.1+/-112.3	2,84,2112	109	92	97		2214,2214,2214	-1.8	0.9	16	dbSNP_131	97	0,8600		0,0,4300	yes	missense,missense,missense	NFATC3	NM_004555.3,NM_173163.2,NM_173165.2	45,45,45	2,84,6412	GG,GC,CC		0.0,2.0018,0.6771	benign,benign,benign	738/1069,738/1066,738/1076	68224786	88,12908	2198	4300	6498	SO:0001583	missense	4775	exon9			ACATGACAGTGTA	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2214C>G	16.37:g.68224786C>G	ENSP00000300659:p.Asp738Glu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	231	128	0.554113	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	C	9.959	1.222209	0.22457	0.020018	0.0	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.11604	2.76;2.76;2.76	5.55	-1.84	0.07809	.	1.004540	0.07995	N	0.987827	T	0.01353	0.0044	M	0.65975	2.015	0.38233	D	0.941091	B;B;B;B	0.13145	0.001;0.006;0.007;0.001	B;B;B;B	0.16289	0.004;0.015;0.007;0.004	T	0.46062	-0.9218	10	0.06099	T	0.92	-3.3363	6.3098	0.21159	0.0:0.2985:0.3225:0.379	.	738;738;738;738	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	E	738;738;738;259	ENSP00000264008:D738E;ENSP00000300659:D738E;ENSP00000331324:D738E	ENSP00000331324:D738E	D	+	3	2	NFATC3	66782287	0.992000	0.36948	0.876000	0.34364	0.316000	0.28119	0.366000	0.20365	-0.220000	0.09988	0.557000	0.71058	GAC	C|0.991;G|0.009	0.009	strong		0.478	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		G	68224786	C	G	68224786	3	3	22	1	0	0	0	0	1	0	0	0	10364	477	17	4	2248	4	NFATC3	16	68224786	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199936	68224786	22129967	8334	13442										
NFATC3	4775	hgsc.bcm.edu	37	chr16	68225197	68225197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacctcattctgtgcatacCctgcctcatctgcaatcaat	4	15	5	0	rs140991156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68225197C>T	ENST00000346183.3	+	9	2649	c.2625C>T	c.(2623-2625)acC>acT	p.T875T	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.T875T|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000329524.4_Silent_p.T875T|NFATC3_ENST00000349223.5_Silent_p.T875T	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	875					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTGTGCATACCCTGCCTCATC	0.443																																					p.T875T		Atlas-SNP	.											.	NFATC3	190	.	0			c.C2625T						PASS	.	C	,,	4,4392	8.1+/-20.4	0,4,2194	199	181	187		2625,2625,2625	-1.8	0.4	16	dbSNP_134	187	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NFATC3	NM_004555.3,NM_173163.2,NM_173165.2	,,	0,4,6494	TT,TC,CC		0.0,0.091,0.0308	,,	875/1069,875/1066,875/1076	68225197	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	4775	exon9			GCATACCCTGCCT	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2625C>T	16.37:g.68225197C>T		Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	251	125	0.498008	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																			C|1.000;T|0.000	0.000	strong		0.443	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		T	68225197	C	T	68225197	2	4	22	1	0	0	0	0	0	0	0	1	10364	610	22	2		2	NFATC3	16	68225197	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	411	68225197	22129556	8335	13443										
SLC7A6OS	84138	hgsc.bcm.edu	37	chr16	68344696	68344696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccgccgctctctccaaaCcctccgacgtcttctgtgcc	6	20	4	0	rs3803650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68344696C>T	ENST00000263997.6	-	1	152	c.134G>A	c.(133-135)gGt>gAt	p.G45D	PRMT7_ENST00000441236.1_5'Flank|PRMT7_ENST00000339507.5_5'Flank|PRMT7_ENST00000348497.4_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000449359.3_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	45			G -> D (in dbSNP:rs3803650). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCTCTCCAAACCCTCCGACGT	0.627													c|||	3347	0.668331	0.7746	0.6816	5008	,	,		16642	0.7728		0.5437	False		,,,				2504	0.5358				p.G45D		Atlas-SNP	.											SLC7A6OS,NS,carcinoma,0,1	SLC7A6OS	22	1	0			c.G134A						scavenged	.	T	ASP/GLY	3273,1123	715.1+/-408.4	1227,819,152	75	62	66		134	-5.3	0	16	dbSNP_107	66	5011,3589	627.2+/-397.9	1450,2111,739	yes	missense	SLC7A6OS	NM_032178.2	94	2677,2930,891	TT,TC,CC		41.7326,25.546,36.2573	benign	45/310	68344696	8284,4712	2198	4300	6498	SO:0001583	missense	84138	exon1			TCCAAACCCTCCG		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.134G>A	16.37:g.68344696C>T	ENSP00000263997:p.Gly45Asp	Somatic	202	2	0.00990099		WXS	Illumina HiSeq	Phase_I	226	110	0.486726	NM_032178	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	CCDS10865.1	1518	0.695054945054945	402	0.8170731707317073	241	0.6657458563535912	455	0.7954545454545454	420	0.554089709762533	c	8.395	0.840662	0.16891	0.74454	0.582674	ENSG00000103061	ENST00000263997	T	0.18016	2.24	5.14	-5.34	0.02705	.	0.784649	0.12366	N	0.475201	T	0.00012	0.0000	L	0.43152	1.355	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.31251	-0.9950	9	0.12103	T	0.63	0.0062	7.5123	0.27581	0.0:0.2759:0.1293:0.5949	rs3803650;rs17554596;rs17554603;rs17845399;rs17858256;rs60471765;rs3803650	45	Q96CW6	S7A6O_HUMAN	D	45	ENSP00000263997:G45D	ENSP00000263997:G45D	G	-	2	0	SLC7A6OS	66902197	0.184000	0.23200	0.002000	0.10522	0.276000	0.26787	-0.287000	0.08388	-0.806000	0.04398	-0.124000	0.14976	GGT	C|0.334;T|0.666	0.666	strong		0.627	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		T	68344696	C	T	68344696	3	4	22	1	0	0	0	0	1	0	0	0	14702	507	18	2	815	2	SLC7A6OS	16	68344696	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	119499	68344696	22010057	8336	13444										
PRMT7	54496	hgsc.bcm.edu	37	chr16	68389772	68389772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctgtgtgccgagggcacCgtggagctcagaaggtgggt	17	11	1	1	rs1131933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:68389772C>T	ENST00000339507.5	+	17	2627	c.1797C>T	c.(1795-1797)acC>acT	p.T599T	PRMT7_ENST00000441236.1_Silent_p.T549T|PRMT7_ENST00000348497.4_Silent_p.T451T|PRMT7_ENST00000449359.3_Silent_p.T549T			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	599	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCGAGGGCACCGTGGAGCTCA	0.677													C|||	2816	0.5623	0.5825	0.5764	5008	,	,		17878	0.7649		0.4026	False		,,,				2504	0.4806				p.T599T		Atlas-SNP	.											.	PRMT7	51	.	0			c.C1797T						PASS	.	C	,	2443,1951		678,1087,432	24	23	23		1647,1797	2.9	0	16	dbSNP_86	23	3796,4802		860,2076,1363	no	coding-synonymous,coding-synonymous	PRMT7	NM_001184824.1,NM_019023.2	,	1538,3163,1795	TT,TC,CC		44.1498,44.4015,48.0219	,	549/643,599/693	68389772	6239,6753	2197	4299	6496	SO:0001819	synonymous_variant	54496	exon17			GGGCACCGTGGAG	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1797C>T	16.37:g.68389772C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	53	28	0.528302	NM_019023	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Silent	SNP	ENST00000339507.5	37	CCDS10866.1																																																																																			C|0.488;T|0.512	0.512	strong		0.677	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		T	68389772	C	T	68389772	2	4	22	1	0	0	0	0	0	0	0	1	12541	639	23	1		1	PRMT7	16	68389772	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45076	68389772	21964981	8337	13445										
CIRH1A	84916	hgsc.bcm.edu	37	chr16	69191012	69191012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaatgccagcattccttcGctctgcccttcagattttgt	6	13	2	1	rs8056684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69191012G>A	ENST00000314423.7	+	12	1490	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CIRH1A_ENST00000563094.1_Missense_Mutation_p.R438H|CIRH1A_ENST00000352319.4_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	438			R -> H (in dbSNP:rs8056684).		maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCATTCCTTCGCTCTGCCCTT	0.443													G|||	28	0.00559105	0.0204	0.0014	5008	,	,		19933	0.0		0.0	False		,,,				2504	0.0				p.R438H	Melanoma(69;1156 1278 4951 8715 52012)	Atlas-SNP	.											.	CIRH1A	48	.	0			c.G1313A						PASS	.	G	HIS/ARG	91,4305	75.2+/-113.4	1,89,2108	97	89	92		1313	0.4	1	16	dbSNP_116	92	0,8600		0,0,4300	yes	missense	CIRH1A	NM_032830.2	29	1,89,6408	AA,AG,GG		0.0,2.0701,0.7002	benign	438/687	69191012	91,12905	2198	4300	6498	SO:0001583	missense	84916	exon12			TCCTTCGCTCTGC	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1313G>A	16.37:g.69191012G>A	ENSP00000327179:p.Arg438His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	155	69	0.445161	NM_032830	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	G	11.42	1.632635	0.29068	0.020701	0.0	ENSG00000141076	ENST00000314423	T	0.29917	1.55	5.63	0.418	0.16429	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.577687	0.20003	N	0.101285	T	0.04092	0.0114	N	0.04959	-0.14	0.22389	N	0.999142	B;B	0.10296	0.0;0.003	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.38643	T	0.18	.	7.8446	0.29419	0.5019:0.0:0.4981:0.0	rs8056684;rs52807145;rs8056684	438;438	Q969X6;Q969X6-3	CIR1A_HUMAN;.	H	438	ENSP00000327179:R438H	ENSP00000327179:R438H	R	+	2	0	CIRH1A	67748513	0.806000	0.28996	0.991000	0.47740	0.870000	0.49936	0.011000	0.13264	0.341000	0.23771	0.455000	0.32223	CGC	G|0.990;A|0.010	0.010	strong		0.443	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		A	69191012	G	A	69191012	3	1	22	1	0	0	0	0	1	0	0	0	3434	1087	38	1	1355	1	CIRH1A	16	69191012	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	801240	69191012	21163741	8338	13446										
SNTB2	6645	hgsc.bcm.edu	37	chr16	69221510	69221510	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatctccaagatcttcccCgggctggctgccgaccagag	10	16	3	2	rs10650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69221510C>G	ENST00000336278.4	+	1	479	c.441C>G	c.(439-441)ccC>ccG	p.P147P		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	147	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AGATCTTCCCCGGGCTGGCTG	0.716													G|||	905	0.180711	0.3003	0.1671	5008	,	,		5567	0.0417		0.2296	False		,,,				2504	0.1217				p.P147P	NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	Atlas-SNP	.											.	SNTB2	22	.	0			c.C441G						PASS	.	G		1114,3104		166,782,1161	7	9	8		441	2.9	1	16	dbSNP_52	8	1807,6475		241,1325,2575	no	coding-synonymous	SNTB2	NM_006750.3		407,2107,3736	GG,GC,CC		21.8184,26.4106,23.368		147/541	69221510	2921,9579	2109	4141	6250	SO:0001819	synonymous_variant	6645	exon1			CTTCCCCGGGCTG	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.441C>G	16.37:g.69221510C>G		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	33	15	0.454545	NM_006750	Q9BY09	Silent	SNP	ENST00000336278.4	37	CCDS10873.1	400	0.18315018315018314	144	0.2926829268292683	62	0.1712707182320442	30	0.05244755244755245	164	0.21635883905013192	G	13.11	2.137905	0.37728	0.264106	0.218184	ENSG00000168807	ENST00000525632;ENST00000360496	T	0.31510	1.49	4.91	2.86	0.33363	.	0.067858	0.64402	N	0.000013	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.17992	-1.0351	6	0.87932	D	0	3.495	8.6306	0.33917	0.1548:0.1286:0.7166:0.0	rs10650;rs1136061;rs1136064;rs3169308;rs17354236	.	.	.	R	16;8	ENSP00000432201:P16R	ENSP00000353686:P8R	P	+	2	0	SNTB2	67779011	0.942000	0.31987	1.000000	0.80357	0.953000	0.61014	0.499000	0.22546	0.564000	0.29238	-0.215000	0.12644	CCG	C|0.815;G|0.185	0.185	strong		0.716	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			G	69221510	C	G	69221510	2	3	22	1	0	0	0	0	0	0	0	1	14873	639	23	4		4	SNTB2	16	69221510	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30498	69221510	21133243	8339	13447										
COG8	84342	hgsc.bcm.edu	37	chr16	69373414	69373414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcgccgagagccgctgcTgtggccgtggctaccgatgg	15	14	0	1	rs11542583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69373414T>C	ENST00000306875.4	-	1	156	c.42A>G	c.(40-42)acA>acG	p.T14T	RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_5'Flank|COG8_ENST00000562081.1_Silent_p.T14T|NIP7_ENST00000254940.5_5'UTR	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	14					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GAGCCGCTGCTGTGGCCGTGG	0.677													C|||	1290	0.257588	0.3192	0.2161	5008	,	,		14793	0.0833		0.2853	False		,,,				2504	0.3548				p.T14T		Atlas-SNP	.											.	COG8	32	.	0			c.A42G						PASS	.	C		1459,2839		233,993,923	15	15	15		42	-1.1	0	16	dbSNP_120	15	2691,5805		446,1799,2003	no	coding-synonymous	COG8	NM_032382.4		679,2792,2926	CC,CT,TT		31.6737,33.946,32.4371		14/613	69373414	4150,8644	2149	4248	6397	SO:0001819	synonymous_variant	84342	exon1			CGCTGCTGTGGCC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.42A>G	16.37:g.69373414T>C		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	51	24	0.470588	NM_032382	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	CCDS10876.1																																																																																			T|0.711;C|0.289	0.289	strong		0.677	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		C	69373414	T	C	69373414	2	2	22	1	0	0	0	0	0	0	0	1	3664	1567	55	3		3	COG8	16	69373414	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	151904	69373414	20981339	8340	13448										
TERF2	7014	hgsc.bcm.edu	37	chr16	69401085	69401085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcattccaatggtggttGgaggattccgtagctgcctg	12	9	2	0	rs34014829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69401085G>T	ENST00000254942.3	-	7	981	c.965C>A	c.(964-966)cCa>cAa	p.P322Q	TERF2_ENST00000603068.1_Missense_Mutation_p.P280Q|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	322					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				AATGGTGGTTGGAGGATTCCG	0.453													G|||	28	0.00559105	0.0204	0.0014	5008	,	,		18068	0.0		0.0	False		,,,				2504	0.0				p.P322Q	Ovarian(13;63 524 30420 31710 34037)	Atlas-SNP	.											.	TERF2	24	.	0			c.C965A						PASS	.	G	GLN/PRO	80,4316	68.1+/-105.8	1,78,2119	49	50	49		839	6.2	1	16	dbSNP_126	49	0,8600		0,0,4300	yes	missense	TERF2	NM_005652.3	76	1,78,6419	TT,TG,GG		0.0,1.8198,0.6156	probably-damaging	280/501	69401085	80,12916	2198	4300	6498	SO:0001583	missense	7014	exon7			GTGGTTGGAGGAT		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.965C>A	16.37:g.69401085G>T	ENSP00000254942:p.Pro322Gln	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_005652		Missense_Mutation	SNP	ENST00000254942.3	37		15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	G	19.48	3.834956	0.71373	0.018198	0.0	ENSG00000132604	ENST00000254942	.	.	.	6.17	6.17	0.99709	.	0.265458	0.37761	N	0.001941	T	0.53270	0.1786	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62101	-0.6925	9	0.31617	T	0.26	-7.4119	16.3795	0.83443	0.0:0.0:1.0:0.0	rs34014829	280	Q15554	TERF2_HUMAN	Q	280	.	ENSP00000254942:P280Q	P	-	2	0	TERF2	67958586	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	3.792000	0.55476	2.941000	0.99782	0.655000	0.94253	CCA	G|0.991;T|0.009	0.009	strong		0.453	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			T	69401085	G	T	69401085	3	4	22	1	0	0	0	0	1	0	0	0	15759	1348	47	4	679	4	TERF2	16	69401085	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27671	69401085	20953668	8341	13449										
CYB5B	80777	hgsc.bcm.edu	37	chr16	69458746	69458746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgagtctacgatgtcaccCgcttcctcaacgaggtgggg	14	12	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69458746C>T	ENST00000512062.1	+	1	319	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	CYB5B_ENST00000561792.1_Missense_Mutation_p.R50C|CYB5B_ENST00000515314.1_Missense_Mutation_p.R50C|CYB5B_ENST00000307892.8_Missense_Mutation_p.R54C			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	50	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CGATGTCACCCGCTTCCTCAA	0.592																																					p.R54C		Atlas-SNP	.											.	CYB5B	12	.	0			c.C160T						PASS	.						52	53	53					16																	69458746		2066	4196	6262	SO:0001583	missense	80777	exon1			GTCACCCGCTTCC		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.148C>T	16.37:g.69458746C>T	ENSP00000423679:p.Arg50Cys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	89	4	0.0449438	NM_030579	A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37		.	.	.	.	.	.	.	.	.	.	C	16.35	3.099759	0.56183	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.77229	-1.08;-1.08;-1.08	5.88	2.86	0.33363	Cytochrome b5 (5);	0.620650	0.18955	N	0.126564	T	0.62344	0.2420	N	0.26092	0.79	0.58432	D	0.999999	B;B;B	0.30584	0.286;0.047;0.004	B;B;B	0.28638	0.092;0.012;0.005	T	0.57843	-0.7741	10	0.87932	D	0	-12.3637	6.394	0.21603	0.1369:0.6613:0.1316:0.0702	.	50;50;50	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	C	50;54;50	ENSP00000423679:R50C;ENSP00000308430:R54C;ENSP00000421492:R50C	ENSP00000308430:R54C	R	+	1	0	CYB5B	68016247	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.771000	0.38542	0.382000	0.24878	0.655000	0.94253	CGC	.	.	none		0.592	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		T	69458746	C	T	69458746	3	4	22	1	0	0	0	0	1	0	0	0	4123	652	23	1	162	1	CYB5B	16	69458746	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57661	69458746	20896007	8342	13450										
NQO1	1728	hgsc.bcm.edu	37	chr16	69745145	69745145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgctatatgtcagttgagGttctaagacttggaagccac	10	7	2	2	rs1800566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69745145G>A	ENST00000320623.5	-	6	1070	c.559C>T	c.(559-561)Cct>Tct	p.P187S	NQO1_ENST00000379046.2_Missense_Mutation_p.P149S|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000379047.3_Missense_Mutation_p.P153S|NQO1_ENST00000561500.1_Missense_Mutation_p.P149S|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000564043.1_Missense_Mutation_p.P166S|NQO1_ENST00000439109.2_Missense_Mutation_p.P115S	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	187			P -> S (lack of activity; dbSNP:rs1800566). {ECO:0000269|PubMed:10447260, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1737339, ECO:0000269|Ref.3}.		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)	p.P187S(1)		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)	GTCAGTTGAGGTTCTAAGACT	0.458													G|||	1447	0.288938	0.1755	0.3329	5008	,	,		21129	0.4187		0.2107	False		,,,				2504	0.3579				p.P187S		Atlas-SNP	.											NQO1,NS,carcinoma,0,1	NQO1	21	1	1	Substitution - Missense(1)	stomach(1)	c.C559T	GRCh37	CM950861	NQO1	M	rs1800566	PASS	.	G	SER/PRO,SER/PRO,SER/PRO	856,3540	334.4+/-303.4	77,702,1419	154	160	158	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	559,457,445	5.4	1	16	dbSNP_89	158	1709,6891	311.2+/-310.2	177,1355,2768	yes	missense,missense,missense	NQO1	NM_000903.2,NM_001025433.1,NM_001025434.1	74,74,74	254,2057,4187	AA,AG,GG		19.8721,19.4722,19.7368	possibly-damaging,possibly-damaging,possibly-damaging	187/275,153/241,149/237	69745145	2565,10431	2198	4300	6498	SO:0001583	missense	1728	exon6			GTTGAGGTTCTAA	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.559C>T	16.37:g.69745145G>A	ENSP00000319788:p.Pro187Ser	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	115	55	0.478261	NM_000903	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	CCDS10883.1	604	0.2765567765567766	88	0.17886178861788618	120	0.3314917127071823	243	0.42482517482517484	153	0.20184696569920843	G	23.7	4.442223	0.83993	0.194722	0.198721	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.09723	2.95;3.11;3.11;3.11	5.41	5.41	0.78517	Flavodoxin-like fold (1);	0.050537	0.85682	D	0.000000	T	0.00012	0.0000	M	0.68593	2.085	0.09310	P	0.999999999882097	D;P;B	0.89917	1.0;0.77;0.438	D;B;B	0.91635	0.999;0.356;0.167	T	0.48536	-0.9027	9	0.46703	T	0.11	-14.2172	18.3313	0.90270	0.0:0.0:1.0:0.0	rs1800566;rs4134727;rs4149351;rs57135274;rs1800566	115;153;187	B4DLR8;B7ZAD1;P15559	.;.;NQO1_HUMAN	S	187;153;149;115	ENSP00000319788:P187S;ENSP00000368335:P153S;ENSP00000368334:P149S;ENSP00000398330:P115S	ENSP00000319788:P187S	P	-	1	0	NQO1	68302646	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.220000	0.95180	2.696000	0.92011	0.655000	0.94253	CCT	G|0.761;A|0.239	0.239	strong		0.458	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			A	69745145	G	A	69745145	3	1	22	1	0	0	0	0	1	0	0	0	10611	1261	44	2	269	2	NQO1	16	69745145	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	286399	69745145	20609608	8343	13451										
WWP2	11060	hgsc.bcm.edu	37	chr16	69963355	69963355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctcatgtggcagagaaGagacaggacaatggacgggt	14	7	2	2	rs1566452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69963355G>A	ENST00000359154.2	+	12	1340	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000448661.1_Silent_p.K413K|WWP2_ENST00000356003.2_Silent_p.K413K|WWP2_ENST00000542271.1_Silent_p.K297K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	413	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCAGAGAAGAGACAGGACA	0.557													G|||	4282	0.855032	0.9455	0.7493	5008	,	,		17978	0.9683		0.7535	False		,,,				2504	0.7955				p.K413K		Atlas-SNP	.											.	WWP2	88	.	0			c.G1239A						PASS	.	G	,	3933,463	777.5+/-414.2	1759,415,24	51	47	49		1239,	4.3	1	16	dbSNP_88	49	6376,2224	703.7+/-405.4	2379,1618,303	no	coding-synonymous,utr-5	WWP2	NM_007014.3,NM_199424.1	,	4138,2033,327	AA,AG,GG		25.8605,10.5323,20.6756	,	413/871,	69963355	10309,2687	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon12			AGAGAAGAGACAG	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1239G>A	16.37:g.69963355G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			A|0.812;C|0.000	0.812	strong		0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69963355	G	A	69963355	2	1	22	1	0	0	0	0	0	0	0	1	17413	933	33	2		2	WWP2	16	69963355	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	218210	69963355	20391398	8344	13452										
WWP2	11060	hgsc.bcm.edu	37	chr16	69967897	69967897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtttttcctcctgtctcaTgaggtgctcaaccctatgta	8	11	2	1	rs2270841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69967897T>C	ENST00000359154.2	+	17	1808	c.1707T>C	c.(1705-1707)caT>caC	p.H569H	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Silent_p.H130H|WWP2_ENST00000448661.1_Silent_p.H569H|WWP2_ENST00000356003.2_Silent_p.H569H|WWP2_ENST00000542271.1_Silent_p.H453H|MIR140_ENST00000385282.1_RNA	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	569	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGTCTCATGAGGTGCTCA	0.483													C|||	4280	0.854633	0.947	0.7507	5008	,	,		23109	0.9683		0.7525	False		,,,				2504	0.7914				p.H569H		Atlas-SNP	.											WWP2,NS,carcinoma,0,1	WWP2	88	1	0			c.T1707C						PASS	.	C	,	3941,455	218.1+/-236.3	1767,407,24	186	170	175		1707,390	-3.6	0.8	16	dbSNP_100	175	6380,2220	378.8+/-339.0	2378,1624,298	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	4145,2031,322	CC,CT,TT		25.814,10.3503,20.5833	,	569/871,130/432	69967897	10321,2675	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon17			GTCTCATGAGGTG	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1707T>C	16.37:g.69967897T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			T|0.194;C|0.806	0.806	strong		0.483	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		C	69967897	T	C	69967897	2	2	22	1	0	0	0	0	0	0	0	1	17413	1461	51	2		2	WWP2	16	69967897	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4542	69967897	20386856	8345	13453										
WWP2	11060	hgsc.bcm.edu	37	chr16	69973825	69973825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgccattgaggagaccgaGggctttggacaggagtaacc	14	8	0	2	rs3748389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69973825G>A	ENST00000359154.2	+	24	2696	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Silent_p.E426E|WWP2_ENST00000448661.1_Silent_p.E865E|WWP2_ENST00000356003.2_Silent_p.E865E|WWP2_ENST00000542271.1_Silent_p.E749E	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	865	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGACCGAGGGCTTTGGAC	0.612													G|||	2646	0.528355	0.3994	0.3862	5008	,	,		17241	0.8819		0.3449	False		,,,				2504	0.6278				p.E865E		Atlas-SNP	.											WWP2,NS,carcinoma,0,1	WWP2	88	1	0			c.G2595A						PASS	.	G	,	1633,2763	497.4+/-363.8	305,1023,870	84	63	70		2595,1278	3.4	1	16	dbSNP_107	70	3045,5555	462.0+/-365.6	554,1937,1809	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	859,2960,2679	AA,AG,GG		35.407,37.1474,35.9957	,	865/871,426/432	69973825	4678,8318	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon24			GACCGAGGGCTTT	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2595G>A	16.37:g.69973825G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			G|0.572;A|0.428	0.428	strong		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69973825	G	A	69973825	2	1	22	1	0	0	0	0	0	0	0	1	17413	991	35	2		2	WWP2	16	69973825	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5928	69973825	20380928	8346	13454										
CLEC18A	348174	hgsc.bcm.edu	37	chr16	69988472	69988472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccacctgcacccactacaCgcaggtgagtgtgctgcagg	12	15	0	1	rs75776403	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69988472C>T	ENST00000288040.6	+	3	639	c.452C>T	c.(451-453)aCg>aTg	p.T151M	CLEC18A_ENST00000393701.2_Missense_Mutation_p.T151M|CLEC18A_ENST00000568461.1_Missense_Mutation_p.T151M|CLEC18A_ENST00000449317.2_Missense_Mutation_p.T151M	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	151	SCP.			T -> M (in Ref. 2; BAF82573 and 4; AAI41809). {ECO:0000305}.		extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						ACCCACTACACGCAGGTGAGT	0.582													.|||	1592	0.317891	0.1135	0.3228	5008	,	,		20491	0.4901		0.2714	False		,,,				2504	0.4611				p.T151M		Atlas-SNP	.											.	CLEC18A	9	.	0			c.C452T						PASS	.						25	23	24					16																	69988472		2198	4298	6496	SO:0001583	missense	348174	exon4			ACTACACGCAGGT	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.452C>T	16.37:g.69988472C>T	ENSP00000288040:p.Thr151Met	Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	391	187	0.478261	NM_001271197	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	CCDS10886.1	616	0.28205128205128205	54	0.10975609756097561	115	0.31767955801104975	274	0.479020979020979	173	0.22823218997361477	.	15.90	2.969358	0.53614	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000545150;ENST00000449317;ENST00000288040	T;T;T	0.16073	2.37;2.37;2.37	1.97	1.97	0.26223	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.95574	3.69	0.23640	P	0.99722994	D;D	0.76494	0.998;0.999	P;P	0.59643	0.861;0.781	T	0.42916	-0.9423	8	.	.	.	.	7.5137	0.27587	0.0:1.0:0.0:0.0	.	151;151	A5D8T8;F8W692	CL18A_HUMAN;.	M	151;151;148;151;151	ENSP00000377304:T151M;ENSP00000413990:T151M;ENSP00000288040:T151M	.	T	+	2	0	CLEC18A	68545973	1.000000	0.71417	0.995000	0.50966	0.105000	0.19272	3.484000	0.53201	1.424000	0.47217	0.184000	0.17185	ACG	C|0.743;T|0.257	0.257	strong		0.582	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		T	69988472	C	T	69988472	3	4	22	1	0	0	0	0	1	0	0	0	3502	536	19	1	462	1	CLEC18A	16	69988472	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14647	69988472	20366281	8347	13455										
CLEC18A	348174	hgsc.bcm.edu	37	chr16	69996928	69996928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgccttcaactggaacGaccagcgctgcaaaacccga	9	15	1	0	rs201545424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:69996928G>A	ENST00000288040.6	+	11	1448	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N	CLEC18A_ENST00000568461.1_Missense_Mutation_p.D421N|CLEC18A_ENST00000393701.2_Missense_Mutation_p.D421N|CLEC18A_ENST00000449317.2_Missense_Mutation_p.D430N	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	421	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.			D -> N (in Ref. 4; AAH78143). {ECO:0000305}.		extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CAACTGGAACGACCAGCGCTG	0.597																																					p.D421N		Atlas-SNP	.											CLEC18A,NS,carcinoma,0,1	CLEC18A	9	1	0			c.G1261A						scavenged	.						50	33	39					16																	69996928		2178	3959	6137	SO:0001583	missense	348174	exon12			TGGAACGACCAGC	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.1261G>A	16.37:g.69996928G>A	ENSP00000288040:p.Asp421Asn	Somatic	502	0	0		WXS	Illumina HiSeq	Phase_I	489	21	0.0429448	NM_001271197	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.752501	0.49362	.	.	ENSG00000157322	ENST00000393701;ENST00000449317;ENST00000288040	T;T;T	0.59906	0.23;0.23;0.23	1.77	1.77	0.24775	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.063063	0.64402	D	0.000011	T	0.64249	0.2581	L	0.52364	1.645	0.33125	D	0.542299	D	0.76494	0.999	D	0.83275	0.996	T	0.68454	-0.5404	9	.	.	.	.	7.0966	0.25313	0.0:0.0:1.0:0.0	.	421	A5D8T8	CL18A_HUMAN	N	421;430;421	ENSP00000377304:D421N;ENSP00000413990:D430N;ENSP00000288040:D421N	.	D	+	1	0	CLEC18A	68554429	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	3.563000	0.53784	1.309000	0.44985	0.175000	0.17021	GAC	G|0.500;A|0.500	0.500	weak		0.597	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		A	69996928	G	A	69996928	3	1	22	1	0	0	0	0	1	0	0	0	3502	1058	37	1	1303	1	CLEC18A	16	69996928	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8456	69996928	20357825	8348	13456										
PDPR	55066	hgsc.bcm.edu	37	chr16	70180088	70180088	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctgtctgagttgtcctAtgcccctatgactccagacc	9	13	1	3	rs2287978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70180088A>T	ENST00000288050.4	+	16	2876	c.1919A>T	c.(1918-1920)tAt>tTt	p.Y640F	PDPR_ENST00000567046.1_De_novo_Start_OutOfFrame|PDPR_ENST00000398122.3_Missense_Mutation_p.Y540F|PDPR_ENST00000568530.1_Missense_Mutation_p.Y640F|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_De_novo_Start_InFrame	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	640					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAGTTGTCCTATGCCCCTATG	0.468													.|||	559	0.111621	0.0091	0.0893	5008	,	,		24813	0.1865		0.1173	False		,,,				2504	0.183				p.Y640F		Atlas-SNP	.											.	PDPR	66	.	0			c.A1919T						PASS	.	A	PHE/TYR	106,3632		4,98,1767	115	116	115		1919	5	1	16	dbSNP_134	115	956,7278		43,870,3204	no	missense	PDPR	NM_017990.3	22	47,968,4971	TT,TA,AA		11.6104,2.8357,8.8707	possibly-damaging	640/880	70180088	1062,10910	1869	4117	5986	SO:0001583	missense	55066	exon16			TGTCCTATGCCCC		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1919A>T	16.37:g.70180088A>T	ENSP00000288050:p.Tyr640Phe	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	181	91	0.502762	NM_017990	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851062	0.71719	0.028357	0.116104	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.83163	-1.69;-1.69	5.02	5.02	0.67125	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	N	0.14661	0.345	0.09310	P	1.0	D;D	0.64830	0.994;0.965	D;P	0.63033	0.91;0.845	T	0.64097	-0.6487	9	0.59425	D	0.04	.	13.9208	0.63930	1.0:0.0:0.0:0.0	.	368;640	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	F	640;540;368	ENSP00000288050:Y640F;ENSP00000381190:Y540F	ENSP00000205055:Y368F	Y	+	2	0	PDPR	68737589	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.097000	0.94193	1.898000	0.54952	0.379000	0.24179	TAT	A|0.750;T|0.250	0.250	weak		0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		T	70180088	A	T	70180088	3	4	22	1	0	0	0	0	1	0	0	0	11689	449	16	5	1973	5	PDPR	16	70180088	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	183160	70180088	20174665	8349	13457										
FUK	197258	hgsc.bcm.edu	37	chr16	70508544	70508544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagagcaggtggaactgcCgggacctgggcagtgggtgg	19	9	0	1	rs17883716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70508544C>T	ENST00000288078.6	+	17	2334	c.2102C>T	c.(2101-2103)cCg>cTg	p.P701L	FUK_ENST00000571514.1_Missense_Mutation_p.P192L|FUK_ENST00000378912.2_Missense_Mutation_p.P733L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	701			P -> L (in dbSNP:rs17883716). {ECO:0000269|Ref.3}.			cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGAACTGCCGGGACCTGGG	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		17514	0.0		0.002	False		,,,				2504	0.0				p.P701L		Atlas-SNP	.											.	FUK	72	.	0			c.C2102T						PASS	.	C	LEU/PRO	3,4111		0,3,2054	34	43	40		2102	3.7	0.9	16	dbSNP_124	40	25,8379		0,25,4177	yes	missense	FUK	NM_145059.2	98	0,28,6231	TT,TC,CC		0.2975,0.0729,0.2237	possibly-damaging	701/1085	70508544	28,12490	2057	4202	6259	SO:0001583	missense	197258	exon17			AACTGCCGGGACC		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2102C>T	16.37:g.70508544C>T	ENSP00000288078:p.Pro701Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.20	3.054738	0.55325	7.29E-4	0.002975	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	T;T	0.08634	3.12;3.07	5.77	3.72	0.42706	.	0.176184	0.50627	N	0.000110	T	0.09468	0.0233	M	0.66939	2.045	0.80722	D	1	P;P;P	0.52692	0.579;0.955;0.955	B;B;B	0.42087	0.072;0.375;0.267	T	0.27365	-1.0076	10	0.12766	T	0.61	-16.2145	9.0313	0.36260	0.146:0.7799:0.0:0.0741	rs17883716;rs17883716	733;607;701	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	L	701;733;15	ENSP00000288078:P701L;ENSP00000368192:P733L	ENSP00000288078:P701L	P	+	2	0	FUK	69066045	0.990000	0.36364	0.878000	0.34440	0.674000	0.39518	2.878000	0.48515	1.463000	0.47967	-0.140000	0.14226	CCG	C|0.995;T|0.005	0.005	strong		0.657	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70508544	C	T	70508544	3	4	22	1	0	0	0	0	1	0	0	0	6096	652	23	1	2164	1	FUK	16	70508544	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	328456	70508544	19846209	8350	13458										
COG4	25839	hgsc.bcm.edu	37	chr16	70546234	70546234	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcgctccacctggggcaGatcaccttccttggtggcaa	12	13	1	1	rs3762171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70546234G>A	ENST00000323786.5	-	5	667	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	COG4_ENST00000393612.4_Silent_p.L212L|COG4_ENST00000564653.1_Silent_p.I173I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	212					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACCTGGGGCAGATCACCTTCC	0.507													G|||	2355	0.470248	0.2859	0.415	5008	,	,		23036	0.5813		0.4175	False		,,,				2504	0.6984				p.L216L		Atlas-SNP	.											.	COG4	64	.	0			c.C646T						PASS	.	G	,	1313,3083	440.8+/-346.1	195,923,1080	96	84	88		646,646	2.4	1	16	dbSNP_107	88	3649,4951	524.2+/-380.5	788,2073,1439	no	coding-synonymous,coding-synonymous	COG4	NM_001195139.1,NM_015386.2	,	983,2996,2519	AA,AG,GG		42.4302,29.8681,38.181	,	216/769,216/790	70546234	4962,8034	2198	4300	6498	SO:0001819	synonymous_variant	25839	exon5			GGGGCAGATCACC	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.646C>T	16.37:g.70546234G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	202	201	0.995049	NM_015386	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	CCDS10892.2																																																																																			G|0.578;A|0.422	0.422	strong		0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			A	70546234	G	A	70546234	2	1	22	1	0	0	0	0	0	0	0	1	3660	933	33	2		2	COG4	16	70546234	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37690	70546234	19808519	8351	13459										
SF3B3	23450	hgsc.bcm.edu	37	chr16	70569215	70569215	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattttctctcacagttccAggagggtcagatggtccaag	10	9	3	1	rs33910368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70569215A>T	ENST00000302516.5	+	6	928	c.717A>T	c.(715-717)ccA>ccT	p.P239P	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	239					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCACAGTTCCAGGAGGGTCAG	0.428													A|||	2355	0.470248	0.2874	0.4135	5008	,	,		18512	0.5804		0.4155	False		,,,				2504	0.7004				p.P239P		Atlas-SNP	.											.	SF3B3	99	.	0			c.A717T						PASS	.	A		1292,3104	437.0+/-344.8	190,912,1096	207	212	210		717	-9.7	0.8	16	dbSNP_126	210	3632,4968	522.8+/-380.2	780,2072,1448	no	coding-synonymous	SF3B3	NM_012426.4		970,2984,2544	TT,TA,AA		42.2326,29.3904,37.8886		239/1218	70569215	4924,8072	2198	4300	6498	SO:0001819	synonymous_variant	23450	exon6			AGTTCCAGGAGGG	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.717A>T	16.37:g.70569215A>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	179	179	1	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	CCDS10894.1																																																																																			A|0.596;T|0.404	0.404	strong		0.428	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		T	70569215	A	T	70569215	2	4	22	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70569215	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	22981	70569215	19785538	8352	13460										
SF3B3	23450	hgsc.bcm.edu	37	chr16	70602221	70602221	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctgggatccagactatCggacatagggtaattgtatc	10	8	1	1	rs12909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70602221C>T	ENST00000302516.5	+	22	3199	c.2988C>T	c.(2986-2988)atC>atT	p.I996I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	996					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.I996I(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCCAGACTATCGGACATAGGG	0.418													T|||	2538	0.506789	0.4175	0.4193	5008	,	,		21558	0.5804		0.4155	False		,,,				2504	0.7076				p.I996I		Atlas-SNP	.											SF3B3,NS,carcinoma,0,1	SF3B3	99	1	1	Substitution - coding silent(1)	stomach(1)	c.C2988T						PASS	.	T		1727,2669	649.6+/-398.9	328,1071,799	126	121	123		2988	3.6	1	16	dbSNP_52	123	3642,4958	624.6+/-397.6	785,2072,1443	no	coding-synonymous	SF3B3	NM_012426.4		1113,3143,2242	TT,TC,CC		42.3488,39.2857,41.3127		996/1218	70602221	5369,7627	2198	4300	6498	SO:0001819	synonymous_variant	23450	exon22			GACTATCGGACAT	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2988C>T	16.37:g.70602221C>T		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	220	220	1	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	CCDS10894.1																																																																																			C|0.569;T|0.431	0.431	strong		0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		T	70602221	C	T	70602221	2	4	22	1	0	0	0	0	0	0	0	1	14152	874	31	1		1	SF3B3	16	70602221	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33006	70602221	19752532	8353	13461										
IL34	146433	hgsc.bcm.edu	37	chr16	70690989	70690989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagtacctgcaggaggtgGagacgctgctgctgaatgtc	16	8	0	2	rs8046424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70690989G>C	ENST00000288098.2	+	4	750	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	IL34_ENST00000566361.1_Missense_Mutation_p.E98Q|IL34_ENST00000429149.2_Missense_Mutation_p.E123Q	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	123			E -> Q (in dbSNP:rs8046424). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18467591}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GCAGGAGGTGGAGACGCTGCT	0.607													C|||	3581	0.715056	0.9826	0.5994	5008	,	,		20344	0.6687		0.4742	False		,,,				2504	0.7311				p.E123Q		Atlas-SNP	.											.	IL34	26	.	0			c.G367C						PASS	.	C	GLN/GLU,GLN/GLU,GLN/GLU	3958,438	209.8+/-230.5	1790,378,30	115	84	94		364,367,367	3	0.1	16	dbSNP_116	94	4199,4401	583.6+/-391.6	1032,2135,1133	yes	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	29,29,29	2822,2513,1163	CC,CG,GG		48.8256,9.9636,37.2345	benign,benign,benign	122/242,123/243,123/243	70690989	8157,4839	2198	4300	6498	SO:0001583	missense	146433	exon5			GAGGTGGAGACGC	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.367G>C	16.37:g.70690989G>C	ENSP00000288098:p.Glu123Gln	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_152456	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	1429	0.6543040293040293	478	0.9715447154471545	203	0.5607734806629834	397	0.6940559440559441	351	0.4630606860158311	C	10.33	1.319045	0.23994	0.900364	0.488256	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.44083	0.93;0.93	5.18	3.04	0.35103	.	0.691102	0.13631	N	0.373759	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36040	-0.9764	9	0.06365	T	0.9	-10.8047	2.4406	0.04493	0.1665:0.5233:0.1616:0.1486	rs8046424;rs17856848;rs57318770;rs8046424	122;123	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	Q	123	ENSP00000397863:E123Q;ENSP00000288098:E123Q	ENSP00000288098:E123Q	E	+	1	0	IL34	69248490	0.020000	0.18652	0.115000	0.21578	0.440000	0.31957	1.221000	0.32503	1.197000	0.43143	-0.322000	0.08575	GAG	G|0.354;C|0.646	0.646	strong		0.607	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		C	70690989	G	C	70690989	3	2	22	1	0	0	0	0	1	0	0	0	7694	1175	41	4	381	4	IL34	16	70690989	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88768	70690989	19663764	8354	13462										
HYDIN	54768	hgsc.bcm.edu	37	chr16	70841703	70841703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatgatggagaaggtcaccAtgtgatagaagacattcttg	12	6	2	5	rs116730273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70841703A>G	ENST00000393567.2	-	86	15296	c.15146T>C	c.(15145-15147)aTg>aCg	p.M5049T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5049					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGGTCACCATGTGATAGAA	0.527													A|||	27	0.00539137	0.0197	0.0014	5008	,	,		21437	0.0		0.0	False		,,,				2504	0.0				p.M5049T		Atlas-SNP	.											.	HYDIN	788	.	0			c.T15146C						PASS	.	A	THR/MET	39,4047		0,39,2004	124	127	126		15143	3.1	0	16	dbSNP_132	126	0,8402		0,0,4201	yes	missense	HYDIN	NM_032821.2	81	0,39,6205	GG,GA,AA		0.0,0.9545,0.3123	benign	5048/5121	70841703	39,12449	2043	4201	6244	SO:0001583	missense	54768	exon86			GTCACCATGTGAT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15146T>C	16.37:g.70841703A>G	ENSP00000377197:p.Met5049Thr	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	310	142	0.458065	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	A	0.004	-2.378729	0.00205	0.009545	0.0	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00705	5.81	6.16	3.06	0.35304	.	7.165540	0.02602	N	0.101146	T	0.00178	0.0005	N	0.00142	-2.005	0.23645	N	0.997212	B	0.09022	0.002	B	0.01281	0.0	T	0.41875	-0.9484	10	0.02654	T	1	.	8.741	0.34558	0.1238:0.0:0.7538:0.1223	.	5048	F8WD23	.	T	5049;5048	ENSP00000377197:M5049T	ENSP00000313052:M5048T	M	-	2	0	HYDIN	69399204	0.030000	0.19436	0.001000	0.08648	0.002000	0.02628	2.046000	0.41260	0.921000	0.36994	-0.924000	0.02725	ATG	A|0.994;G|0.006	0.006	strong		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70841703	A	G	70841703	3	3	22	1	0	0	0	0	1	0	0	0	7467	217	8	2	223	2	HYDIN	16	70841703	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150714	70841703	19513050	8355	13463										
HYDIN	54768	hgsc.bcm.edu	37	chr16	70934974	70934974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtacaggtgcaggccgtacTcagcctcaggggggatggtc	16	10	2	0	rs12102425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70934974T>C	ENST00000393567.2	-	53	9131	c.8981A>G	c.(8980-8982)gAg>gGg	p.E2994G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2994			E -> G (in dbSNP:rs12102425).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGCCGTACTCAGCCTCAGG	0.567																																					p.E2994G		Atlas-SNP	.											.	HYDIN	788	.	0			c.A8981G						PASS	.	T	GLY/GLU	584,3442		0,584,1429	140	136	138		8978	4.4	0.2	16	dbSNP_120	138	146,8200		0,146,4027	yes	missense	HYDIN	NM_032821.2	98	0,730,5456	CC,CT,TT		1.7493,14.5057,5.9004	probably-damaging	2993/5121	70934974	730,11642	2013	4173	6186	SO:0001583	missense	54768	exon53			CCGTACTCAGCCT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8981A>G	16.37:g.70934974T>C	ENSP00000377197:p.Glu2994Gly	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	181	46	0.254144	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	183	0.08379120879120878	101	0.20528455284552846	39	0.10773480662983426	28	0.04895104895104895	15	0.01978891820580475	T	14.42	2.529006	0.44969	0.145057	0.017493	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01119	5.31	4.39	4.39	0.52855	.	0.000000	0.32970	U	0.005437	T	0.00012	0.0000	M	0.76002	2.32	0.80722	D	1	D	0.53885	0.963	P	0.50109	0.631	T	0.71570	-0.4553	10	0.34782	T	0.22	.	13.5437	0.61690	0.0:0.0:0.0:1.0	rs12102425;rs12102425	2993	F8WD23	.	G	2994;2993	ENSP00000377197:E2994G	ENSP00000313052:E2993G	E	-	2	0	HYDIN	69492475	1.000000	0.71417	0.158000	0.22627	0.119000	0.20118	4.680000	0.61656	1.747000	0.51819	0.164000	0.16699	GAG	.	.	weak		0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70934974	T	C	70934974	3	2	22	1	0	0	0	0	1	0	0	0	7467	1551	54	3	6520	3	HYDIN	16	70934974	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93271	70934974	19419779	8356	13464										
HYDIN	54768	hgsc.bcm.edu	37	chr16	70954682	70954682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcttctccaggcgctcccGctccgccttctccctctcca	6	22	3	0	rs143849088	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:70954682G>A	ENST00000393567.2	-	46	7747	c.7597C>T	c.(7597-7599)Cgg>Tgg	p.R2533W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2533					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				aggcgctcccgctccgccttc	0.697													G|||	17	0.00339457	0.0129	0.0	5008	,	,		19002	0.0		0.0	False		,,,				2504	0.0				p.R2533W		Atlas-SNP	.											.	HYDIN	788	.	0			c.C7597T						PASS	.	G	TRP/ARG	28,3858		0,28,1915	20	21	21		7594	-0.8	1	16	dbSNP_134	21	0,8242		0,0,4121	yes	missense	HYDIN	NM_032821.2	101	0,28,6036	AA,AG,GG		0.0,0.7205,0.2309	probably-damaging	2532/5121	70954682	28,12100	1943	4121	6064	SO:0001583	missense	54768	exon46			GCTCCCGCTCCGC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7597C>T	16.37:g.70954682G>A	ENSP00000377197:p.Arg2533Trp	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	18.32	3.597425	0.66332	0.007205	0.0	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01178	5.22	5.89	-0.796	0.10912	.	0.000000	0.33834	U	0.004514	T	0.01061	0.0035	N	0.14661	0.345	0.25478	N	0.987764	D	0.89917	1.0	D	0.72338	0.977	T	0.38134	-0.9675	10	0.72032	D	0.01	.	13.9873	0.64343	0.1005:0.0:0.6814:0.2181	.	2532	F8WD23	.	W	2533;2532	ENSP00000377197:R2533W	ENSP00000313052:R2532W	R	-	1	2	HYDIN	69512183	0.996000	0.38824	0.984000	0.44739	0.832000	0.47134	0.126000	0.15769	-0.426000	0.07360	-1.296000	0.01341	CGG	G|0.996;A|0.004	0.004	strong		0.697	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70954682	G	A	70954682	3	1	22	1	0	0	0	0	1	0	0	0	7467	1086	38	1	7932	1	HYDIN	16	70954682	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19708	70954682	19400071	8357	13465										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71007312	71007312	+	Frame_Shift_Del	DEL	G	G	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatccaagactccagaaatGggctggatttcgaagatccg					rs373616607		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71007312delG	ENST00000393567.2	-	35	5463	c.5313delC	c.(5311-5313)cccfs	p.P1771fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1771					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCCAGAAATGGGCTGGATTT	0.403																																					p.I1772fs		Pindel,Atlas-Indel	.											.	HYDIN	788	.	0			c.5314delA						PASS	.						1	1	1					16																	71007312		454	1000	1454	SO:0001589	frameshift_variant	54768	exon35			.	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5313delC	16.37:g.71007312delG	ENSP00000377197:p.Pro1771fs	Somatic	101	.	.		WXS	Illumina HiSeq	Phase_I	140	25	0.179	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	ENST00000393567.2	37	CCDS59269.1																																																																																			.	.	weak		0.403	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			-	71007312	G	-	71007312	7	5	22	1	0	1	0	1	0	0	0	0	7467	1335	47	0	10260	0	HYDIN	16	71007312	Frame_Shift_Del	DEL	G	TCGA-G8-6324-01A-11D-2210-10	52630	71007312	19347441	8358	13466										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71009054	71009054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacttggccagtttgcggCgactccgatggctgaagcag	13	12	1	1	rs201855097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71009054C>T	ENST00000393567.2	-	31	4907	c.4757G>A	c.(4756-4758)cGc>cAc	p.R1586H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1586					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGTTTGCGGCGACTCCGATG	0.512													C|||	27	0.00539137	0.0144	0.0029	5008	,	,		20704	0.001		0.005	False		,,,				2504	0.0				p.R1586H		Atlas-SNP	.											LOC652153,NS,carcinoma,-1,2	HYDIN	788	2	0			c.G4757A						scavenged	.						2	2	2					16																	71009054		1187	2725	3912	SO:0001583	missense	54768	exon31			TTGCGGCGACTCC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4757G>A	16.37:g.71009054C>T	ENSP00000377197:p.Arg1586His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	170	45	0.264706	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388546	0.25118	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	4.61	-0.89	0.10577	.	0.499604	0.14321	U	0.326982	T	0.01189	0.0039	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42344	-0.9457	10	0.42905	T	0.14	.	3.7169	0.08441	0.1643:0.4632:0.0:0.3725	.	1585	F8WD23	.	H	1586;1585	ENSP00000377197:R1586H	ENSP00000313052:R1585H	R	-	2	0	HYDIN	69566555	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.261000	0.18442	-0.186000	0.10533	-0.444000	0.05651	CGC	C|0.999;T|0.001	0.001	weak		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71009054	C	T	71009054	3	4	22	1	0	0	0	0	1	0	0	0	7467	768	27	1	10832	1	HYDIN	16	71009054	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1742	71009054	19345699	8359	13467										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71015329	71015329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagatcgaggcagatttggGgaaagattccctctccgctc	13	10	1	3	rs78763837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71015329G>T	ENST00000393567.2	-	29	4625	c.4475C>A	c.(4474-4476)cCc>cAc	p.P1492H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1492					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGATTTGGGGAAAGATTCC	0.483													G|||	2340	0.467252	0.4455	0.5591	5008	,	,		18143	0.5645		0.328	False		,,,				2504	0.4744				p.P1492H		Atlas-SNP	.											LOC652153,NS,haematopoietic_neoplasm,0,2	HYDIN	788	2	0			c.C4475A						PASS	.						66	66	66					16																	71015329		1844	4072	5916	SO:0001583	missense	54768	exon29			ATTTGGGGAAAGA	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4475C>A	16.37:g.71015329G>T	ENSP00000377197:p.Pro1492His	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	160	65	0.40625	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	964	0.4413919413919414	233	0.4735772357723577	184	0.5082872928176796	312	0.5454545454545454	235	0.3100263852242744	G	24.0	4.480970	0.84747	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01221	5.15	4.26	4.26	0.50523	.	0.000000	0.33023	U	0.005376	T	0.00012	0.0000	M	0.80183	2.485	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	T	0.45056	-0.9287	9	0.49607	T	0.09	.	16.6224	0.84934	0.0:0.0:1.0:0.0	.	1491	F8WD23	.	H	1492;1491	ENSP00000377197:P1492H	ENSP00000313052:P1491H	P	-	2	0	HYDIN	69572830	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.105000	0.94246	2.083000	0.62718	0.603000	0.83216	CCC	.	.	weak		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71015329	G	T	71015329	3	4	22	1	0	0	0	0	1	0	0	0	7467	1232	43	4	11122	4	HYDIN	16	71015329	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6275	71015329	19339424	8360	13468										
HYDIN	54768	hgsc.bcm.edu	37	chr16	71101206	71101206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaataccttgctgtaattaAgagcgccagcacctcttctc	7	13	2	1	rs11866903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71101206A>G	ENST00000393567.2	-	15	2212	c.2062T>C	c.(2062-2064)Tta>Cta	p.L688L	HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448089.2_Silent_p.L688L|HYDIN_ENST00000393550.2_Silent_p.L703L|HYDIN_ENST00000541601.1_Silent_p.L705L|HYDIN_ENST00000448691.1_Silent_p.L688L|HYDIN_ENST00000538248.1_Silent_p.L715L|HYDIN_ENST00000288168.10_Silent_p.L705L|HYDIN_ENST00000321489.5_Silent_p.L688L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	688					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTGTAATTAAGAGCGCCAGC	0.562													A|||	378	0.0754792	0.2769	0.013	5008	,	,		18119	0.001		0.001	False		,,,				2504	0.001				p.L715L		Atlas-SNP	.											.	HYDIN	788	.	0			c.T2143C						PASS	.	A	,,,	969,3427	361.6+/-315.8	118,733,1347	68	59	62		2143,2113,2062,2062	0	1	16	dbSNP_120	62	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HYDIN	NM_001198542.1,NM_001198543.1,NM_017558.3,NM_032821.2	,,,	118,737,5643	GG,GA,AA		0.0465,22.0428,7.4869	,,,	715/951,705/941,688/1018,688/5121	71101206	973,12023	2198	4300	6498	SO:0001819	synonymous_variant	54768	exon15			TAATTAAGAGCGC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2062T>C	16.37:g.71101206A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_001198542	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																			A|0.919;G|0.081	0.081	strong		0.562	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71101206	A	G	71101206	2	3	22	1	0	0	0	0	0	0	0	1	7467	69	3	3		3	HYDIN	16	71101206	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85877	71101206	19253547	8361	13469										
FTSJD1	55783	hgsc.bcm.edu	37	chr16	71317567	71317567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctctctttgaataatgaAatgcaaatgccttttagcaa	5	8	2	2	rs16970857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71317567A>G	ENST00000338099.5	-	3	2593	c.2257T>C	c.(2257-2259)Ttc>Ctc	p.F753L	CMTR2_ENST00000434935.2_Missense_Mutation_p.F753L			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	753			F -> L (in dbSNP:rs16970857).		7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TGAATAATGAAATGCAAATGC	0.368													A|||	159	0.0317492	0.1165	0.0072	5008	,	,		19301	0.0		0.0	False		,,,				2504	0.0				p.F753L		Atlas-SNP	.											.	FTSJD1	70	.	0			c.T2257C						PASS	.	A	LEU/PHE,LEU/PHE	481,3915	216.8+/-235.3	32,417,1749	41	44	43		2257,2257	3.6	1	16	dbSNP_123	43	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	FTSJD1	NM_001099642.1,NM_018348.5	22,22	32,420,6046	GG,GA,AA		0.0349,10.9418,3.7242	benign,benign	753/771,753/771	71317567	484,12512	2198	4300	6498	SO:0001583	missense	55783	exon3			TAATGAAATGCAA	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.2257T>C	16.37:g.71317567A>G	ENSP00000337512:p.Phe753Leu	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	180	88	0.488889	NM_018348	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	44	0.020146520146520148	42	0.08536585365853659	2	0.0055248618784530384	0	0.0	0	0.0	A	4.716	0.133141	0.09032	0.109418	3.49E-4	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.09445	2.98;2.98	5.8	3.58	0.41010	.	0.463445	0.21366	N	0.075705	T	0.00073	0.0002	N	0.01168	-0.975	0.21499	N	0.99967	B	0.02656	0.0	B	0.01281	0.0	T	0.45600	-0.9250	10	0.02654	T	1	-21.5732	6.5334	0.22339	0.7212:0.147:0.1318:0.0	rs16970857;rs52837568;rs16970857	753	Q8IYT2	FTSJ1_HUMAN	L	753	ENSP00000337512:F753L;ENSP00000411148:F753L	ENSP00000337512:F753L	F	-	1	0	FTSJD1	69875068	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.876000	0.28092	1.020000	0.39573	0.477000	0.44152	TTC	A|0.964;G|0.036	0.036	strong		0.368	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		G	71317567	A	G	71317567	3	3	22	1	0	0	0	0	1	0	0	0	6090	14	1	2	59	2	FTSJD1	16	71317567	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	216361	71317567	19037186	8362	13470										
FTSJD1	55783	hgsc.bcm.edu	37	chr16	71318577	71318577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttttactagccaattaTttctggaaagatgtttcagt	6	5	2	1	rs3803704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71318577T>C	ENST00000338099.5	-	3	1583	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	CMTR2_ENST00000434935.2_Missense_Mutation_p.N416S			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	416			N -> S (in dbSNP:rs3803704). {ECO:0000269|PubMed:14702039}.		7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TAGCCAATTATTTCTGGAAAG	0.308													T|||	1392	0.277955	0.2852	0.4784	5008	,	,		19429	0.2103		0.2485	False		,,,				2504	0.226				p.N416S		Atlas-SNP	.											FTSJD1,NS,carcinoma,0,1	FTSJD1	70	1	0			c.A1247G						PASS	.	T	SER/ASN,SER/ASN	1132,3258		165,802,1228	29	31	30		1247,1247	2.5	1	16	dbSNP_107	30	2152,6412		279,1594,2409	yes	missense,missense	FTSJD1	NM_001099642.1,NM_018348.5	46,46	444,2396,3637	CC,CT,TT		25.1284,25.7859,25.3512	benign,benign	416/771,416/771	71318577	3284,9670	2195	4282	6477	SO:0001583	missense	55783	exon3			CAATTATTTCTGG	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1247A>G	16.37:g.71318577T>C	ENSP00000337512:p.Asn416Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_018348	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	643	0.2944139194139194	149	0.30284552845528456	164	0.4530386740331492	132	0.23076923076923078	198	0.2612137203166227	T	0.906	-0.720809	0.03182	0.257859	0.251284	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13307	2.6;2.6	5.95	2.53	0.30540	.	0.329703	0.36200	N	0.002739	T	0.00012	0.0000	L	0.46157	1.445	0.33937	P	0.35721899999999995	B	0.06786	0.001	B	0.06405	0.002	T	0.46303	-0.9201	9	0.11794	T	0.64	0.0132	8.9128	0.35563	0.0:0.2118:0.0:0.7882	rs3803704;rs52799996;rs60429579;rs3803704	416	Q8IYT2	FTSJ1_HUMAN	S	416	ENSP00000337512:N416S;ENSP00000411148:N416S	ENSP00000337512:N416S	N	-	2	0	FTSJD1	69876078	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.147000	0.16202	0.503000	0.28060	0.402000	0.26972	AAT	T|0.735;C|0.265	0.265	strong		0.308	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		C	71318577	T	C	71318577	3	2	22	1	0	0	0	0	1	0	0	0	6090	1493	52	2	1069	2	FTSJD1	16	71318577	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1010	71318577	19036176	8363	13471										
TAT	6898	hgsc.bcm.edu	37	chr16	71602665	71602665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaactaaccgctccgtgaaCtccacatcgttctcaaattc	5	15	1	1	rs16973331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:71602665C>T	ENST00000355962.4	-	11	1306	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	391					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GCTCCGTGAACTCCACATCGT	0.522													C|||	189	0.0377396	0.1377	0.0101	5008	,	,		16730	0.0		0.0	False		,,,				2504	0.0				p.E391E	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	Atlas-SNP	.											.	TAT	80	.	0			c.G1173A						PASS	.	C		561,3835	250.9+/-257.8	44,473,1681	84	70	75		1173	-0.3	1	16	dbSNP_123	75	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	TAT	NM_000353.2		44,478,5976	TT,TC,CC		0.0581,12.7616,4.3552		391/455	71602665	566,12430	2198	4300	6498	SO:0001819	synonymous_variant	6898	exon11			CGTGAACTCCACA		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1173G>A	16.37:g.71602665C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_000353	B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	CCDS10903.1																																																																																			C|0.958;T|0.042	0.042	strong		0.522	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71602665	C	T	71602665	2	4	22	1	0	0	0	0	0	0	0	1	15587	564	20	2		2	TAT	16	71602665	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	284088	71602665	18752088	8364	13472										
PMFBP1	83449	hgsc.bcm.edu	37	chr16	72156842	72156842	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactcagcttggcaatgtaTttcacctgctctcggagctg	9	13	3	0	rs16973716	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:72156842T>G	ENST00000537792.1	-	3	236	c.237A>C	c.(235-237)aaA>aaC	p.K79N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.K768N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K913N|PMFBP1_ENST00000537465.1_Missense_Mutation_p.K918N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	918						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGGCAATGTATTTCACCTGCT	0.537													T|||	2412	0.481629	0.6263	0.3112	5008	,	,		20099	0.3413		0.4105	False		,,,				2504	0.6247				p.K913N		Atlas-SNP	.											.	PMFBP1	101	.	0			c.A2739C						PASS	.	T	ASN/LYS,ASN/LYS	2428,1968	619.0+/-393.3	681,1066,451	90	87	88		2304,2739	3.8	1	16	dbSNP_123	88	3631,4969	522.4+/-380.1	781,2069,1450	yes	missense,missense	PMFBP1	NM_001160213.1,NM_031293.2	94,94	1462,3135,1901	GG,GT,TT		42.2209,44.768,46.622	probably-damaging,probably-damaging	768/883,913/1008	72156842	6059,6937	2198	4300	6498	SO:0001583	missense	83449	exon19			AATGTATTTCACC	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.237A>C	16.37:g.72156842T>G	ENSP00000443366:p.Lys79Asn	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	80	35	0.4375	NM_031293	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37		939	0.42994505494505497	291	0.5914634146341463	126	0.34806629834254144	203	0.3548951048951049	319	0.420844327176781	T	17.71	3.456390	0.63401	0.55232	0.422209	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.58506	0.33;2.27;2.3;2.11	4.87	3.78	0.43462	.	0.000000	0.51477	D	0.000097	T	0.00012	0.0000	M	0.68317	2.08	0.36865	P	0.11140700000000003	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.948;0.994	T	0.50162	-0.8860	9	0.54805	T	0.06	-21.4562	7.1271	0.25477	0.0:0.1004:0.0:0.8996	rs16973716;rs16973716	918;913;918	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	79;918;913;768	ENSP00000443366:K79N;ENSP00000443817:K918N;ENSP00000237353:K913N;ENSP00000347854:K768N	ENSP00000237353:K913N	K	-	3	2	PMFBP1	70714343	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.490000	0.35573	0.893000	0.36288	0.477000	0.44152	AAA	T|0.542;G|0.458	0.458	strong		0.537	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		G	72156842	T	G	72156842	3	3	22	1	0	0	0	0	1	0	0	0	12134	1490	52	5	356	5	PMFBP1	16	72156842	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	554177	72156842	18197911	8365	13473										
ZFHX3	463	hgsc.bcm.edu	37	chr16	72831357	72831358	+	In_Frame_Ins	INS	-	-	TTG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgggccagcgtttgtgcINSttgttgttgttgttgttgtt					rs568545014|rs34918837|rs552138038|rs372909378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:72831357_72831358insTTG	ENST00000268489.5	-	9	5895_5896	c.5223_5224insCAA	c.(5221-5226)caagca>caaCAAgca	p.1741_1742insQ	ZFHX3_ENST00000397992.5_In_Frame_Ins_p.827_828insQ	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1741	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCGTTTGTGCttgttgttgtt	0.53														242	0.0483227	0.1755	0.0115	5008	,	,		29749	0.002		0.0	False		,,,				2504	0.0				p.A1742delinsQA		Atlas-Indel	.											.	ZFHX3	404	.	0			c.5224_5225insCAA						PASS	.																																			SO:0001652	inframe_insertion	463	exon9			.	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5221_5223dupCAA	16.37:g.72831364_72831366dupTTG	ENSP00000268489:p.Gln1742_Gln1743dup	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	184	51	0.277174	NM_006885	D3DWS8|O15101|Q13719	In_Frame_Ins	INS	ENST00000268489.5	37	CCDS10908.1																																																																																			.	.	weak		0.53	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		TTG	72831358	-	TTG	72831357	7	5	22	1	0	1	1	0	0	0	0	0	17631	797	28	0	5895	0	ZFHX3	16	72831357	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	674515	72831357	17523396	8366	13474										
RFWD3	55159	hgsc.bcm.edu	37	chr16	74664698	74664698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggctttctgagctactaActcctgcacatgactgctcg	8	14	1	2	rs78796563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:74664698A>G	ENST00000361070.4	-	10	1832	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L	RFWD3_ENST00000571750.1_Silent_p.L579L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	579					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L579L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGAGCTACTAACTCCTGCACA	0.473													A|||	67	0.0133786	0.0023	0.0259	5008	,	,		18719	0.0		0.0288	False		,,,				2504	0.0174				p.L579L		Atlas-SNP	.											RFWD3,NS,carcinoma,0,1	RFWD3	49	1	1	Substitution - coding silent(1)	lung(1)	c.T1735C						scavenged	.	A		28,4368	32.6+/-62.9	1,26,2171	94	70	78		1735	3.5	0.3	16	dbSNP_132	78	267,8333	102.3+/-163.5	4,259,4037	no	coding-synonymous	RFWD3	NM_018124.3		5,285,6208	GG,GA,AA		3.1047,0.6369,2.2699		579/775	74664698	295,12701	2198	4300	6498	SO:0001819	synonymous_variant	55159	exon10			CTACTAACTCCTG	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1735T>C	16.37:g.74664698A>G		Somatic	86	1	0.0116279		WXS	Illumina HiSeq	Phase_I	75	44	0.586667	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	CCDS32486.1																																																																																			A|0.981;G|0.019	0.019	strong		0.473	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		G	74664698	A	G	74664698	2	3	22	1	0	0	0	0	0	0	0	1	13261	40	2	2		2	RFWD3	16	74664698	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1833341	74664698	15690055	8367	13475										
MLKL	197259	hgsc.bcm.edu	37	chr16	74709233	74709233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacctcaccactggctgagCcagtcttcacattcttcacc	5	17	5	1	rs144526386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:74709233C>A	ENST00000306247.7	-	4	944	c.605G>T	c.(604-606)gGc>gTc	p.G202V	MLKL_ENST00000308807.7_Intron	NM_001142497.1	NP_001135969.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACTGGCTGAGCCAGTCTTCAC	0.493													C|||	51	0.0101837	0.0023	0.0144	5008	,	,		19105	0.0		0.0209	False		,,,				2504	0.0174				p.G202V		Atlas-SNP	.											.	MLKL	51	.	0			c.G605T						PASS	.	C	VAL/GLY,	17,4379	23.3+/-48.9	0,17,2181	113	108	110		605,	-1	0	16	dbSNP_134	110	162,8438	76.3+/-139.0	2,158,4140	yes	missense,intron	MLKL	NM_001142497.1,NM_152649.2	109,	2,175,6321	AA,AC,CC		1.8837,0.3867,1.3773	,	202/264,	74709233	179,12817	2198	4300	6498	SO:0001583	missense	197259	exon4			GCTGAGCCAGTCT	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000306247.7:c.605G>T	16.37:g.74709233C>A	ENSP00000303118:p.Gly202Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_001142497		Missense_Mutation	SNP	ENST00000306247.7	37	CCDS45528.1	23	0.010531135531135532	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	15	0.01978891820580475	C	8.923	0.961462	0.18583	0.003867	0.018837	ENSG00000168404	ENST00000306247	T	0.12147	2.71	4.96	-1.05	0.10036	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65573	0.936	T	0.07501	-1.0769	8	0.48119	T	0.1	.	8.2986	0.32001	0.0:0.4852:0.0:0.5148	.	202	Q8NB16-2	.	V	202	ENSP00000303118:G202V	ENSP00000303118:G202V	G	-	2	0	MLKL	73266734	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.620000	0.05565	-0.228000	0.09869	-0.374000	0.07098	GGC	C|0.986;A|0.014	0.014	strong		0.493	MLKL-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436402.1	NM_152649		A	74709233	C	A	74709233	3	1	22	1	0	0	0	0	1	0	0	0	9619	739	26	4	198	4	MLKL	16	74709233	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44535	74709233	15645520	8368	13476										
WDR59	79726	hgsc.bcm.edu	37	chr16	74943471	74943471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtacgacccgtaagccgTggtcacccgcgcaaacgtcg	12	15	1	0	rs61734551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:74943471T>C	ENST00000262144.6	-	16	1700	c.1570A>G	c.(1570-1572)Acg>Gcg	p.T524A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	524										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCGTAAGCCGTGGTCACCCGC	0.547													T|||	66	0.0131789	0.0484	0.0029	5008	,	,		16262	0.0		0.0	False		,,,				2504	0.0				p.T524A		Atlas-SNP	.											.	WDR59	66	.	0			c.A1570G						PASS	.	T	ALA/THR	124,4272	92.5+/-131.2	0,124,2074	89	95	93		1570	4.8	1	16	dbSNP_129	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	WDR59	NM_030581.3	58	0,126,6372	CC,CT,TT		0.0233,2.8207,0.9695	benign	524/975	74943471	126,12870	2198	4300	6498	SO:0001583	missense	79726	exon16			AAGCCGTGGTCAC	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1570A>G	16.37:g.74943471T>C	ENSP00000262144:p.Thr524Ala	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	CCDS32488.1	20	0.009157509157509158	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	0	0.0	T	10.57	1.388491	0.25118	0.028207	2.33E-4	ENSG00000103091	ENST00000262144	T	0.67698	-0.28	5.86	4.76	0.60689	.	0.137136	0.64402	D	0.000005	T	0.14313	0.0346	N	0.08118	0	0.34596	D	0.715995	B	0.12013	0.005	B	0.14023	0.01	T	0.30794	-0.9966	10	0.08381	T	0.77	-12.4732	13.1941	0.59728	0.0:0.0:0.1332:0.8668	.	524	Q6PJI9	WDR59_HUMAN	A	524	ENSP00000262144:T524A	ENSP00000262144:T524A	T	-	1	0	WDR59	73500972	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	5.542000	0.67218	1.129000	0.42072	-0.323000	0.08544	ACG	T|0.988;C|0.012	0.012	strong		0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74943471	T	C	74943471	3	2	22	1	0	0	0	0	1	0	0	0	17305	1696	59	2	1398	2	WDR59	16	74943471	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	234238	74943471	15411282	8369	13477										
WDR59	79726	hgsc.bcm.edu	37	chr16	75018874	75018874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagctcacctgggagtcacgGaactctacaaccacgttttc	8	13	3	0	rs12448858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75018874G>A	ENST00000262144.6	-	1	172	c.42C>T	c.(40-42)ttC>ttT	p.F14F	WDR59_ENST00000562331.1_Intron	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	14										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGGAGTCACGGAACTCTACAA	0.731													A|||	600	0.119808	0.3351	0.0764	5008	,	,		12715	0.001		0.0616	False		,,,				2504	0.0419				p.F14F		Atlas-SNP	.											.	WDR59	66	.	0			c.C42T						PASS	.	A		1097,3283		149,799,1242	67	52	57		42	0.2	1	16	dbSNP_120	57	510,8086		24,462,3812	no	coding-synonymous	WDR59	NM_030581.3		173,1261,5054	AA,AG,GG		5.933,25.0457,12.3844		14/975	75018874	1607,11369	2190	4298	6488	SO:0001819	synonymous_variant	79726	exon1			GTCACGGAACTCT	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.42C>T	16.37:g.75018874G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	123	62	0.504065	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																			G|0.886;A|0.114	0.114	strong		0.731	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		A	75018874	G	A	75018874	2	1	22	1	0	0	0	0	0	0	0	1	17305	1165	41	2		2	WDR59	16	75018874	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75403	75018874	15335879	8370	13478										
CTRB1	1504	hgsc.bcm.edu	37	chr16	75258617	75258617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagggcgactctggcggCcccctggtctgccaaaagga	13	15	2	0	rs2287990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75258617C>T	ENST00000361017.4	+	7	653	c.645C>T	c.(643-645)ggC>ggT	p.G215G	RP11-331F4.4_ENST00000489723.1_RNA	NM_001906.4	NP_001897.4	P17538	CTRB1_HUMAN	chymotrypsinogen B1	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)	Aprotinin(DB06692)	ACTCTGGCGGCCCCCTGGTCT	0.662													C|||	663	0.132388	0.1422	0.0735	5008	,	,		16125	0.245		0.1024	False		,,,				2504	0.0757				p.G215G		Atlas-SNP	.											.	CTRB1	8	.	0			c.C645T						PASS	.	C		581,3815	258.0+/-262.2	39,503,1656	45	46	45		645	1.4	0.9	16	dbSNP_100	45	841,7759	192.8+/-238.7	37,767,3496	yes	coding-synonymous	CTRB1	NM_001906.4		76,1270,5152	TT,TC,CC		9.7791,13.2166,10.9418		215/264	75258617	1422,11574	2198	4300	6498	SO:0001819	synonymous_variant	1504	exon7			TGGCGGCCCCCTG		CCDS32490.1	16q23.1	2008-02-05			ENSG00000168925	ENSG00000168925	3.4.21.1		2521	protein-coding gene	gene with protein product		118890		CTRB		2917002, 8186414	Standard	NM_001906		Approved		uc002fds.3	P17538	OTTHUMG00000159272	ENST00000361017.4:c.645C>T	16.37:g.75258617C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	97	58	0.597938	NM_001906		Silent	SNP	ENST00000361017.4	37	CCDS32490.1																																																																																			C|0.884;T|0.116	0.116	strong		0.662	CTRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354300.2	NM_001906		T	75258617	C	T	75258617	2	4	22	1	0	0	0	0	0	0	0	1	4025	726	26	2		2	CTRB1	16	75258617	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	239743	75258617	15096136	8371	13479										
BCAR1	9564	hgsc.bcm.edu	37	chr16	75269730	75269730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catacacgtcctcggccggcGgggagtctggagggggcgca	18	12	1	0	rs61729593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75269730G>A	ENST00000162330.5	-	5	1193	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L	BCAR1_ENST00000393420.6_Missense_Mutation_p.P374L|BCAR1_ENST00000546196.1_Missense_Mutation_p.P327L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P374L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Missense_Mutation_p.P402L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P354L|BCAR1_ENST00000535626.2_Missense_Mutation_p.P208L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P356L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P374L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	356	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCGGCCGGCGGGGAGTCTGG	0.716													G|||	36	0.0071885	0.0257	0.0029	5008	,	,		14012	0.0		0.0	False		,,,				2504	0.0				p.P402L		Atlas-SNP	.											.	BCAR1	184	.	0			c.C1205T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	38,4262		0,38,2112	7	8	8		1205,1121,1121,1121,1067,1061,623,437,1067	3.3	0.3	16	dbSNP_129	8	2,8398		0,2,4198	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	98,98,98,98,98,98,98,98,98	0,40,6310	AA,AG,GG		0.0238,0.8837,0.315	benign,benign,benign,benign,benign,benign,benign,benign,benign	402/917,374/889,374/889,374/889,356/871,354/869,208/723,146/661,356/871	75269730	40,12660	2150	4200	6350	SO:0001583	missense	9564	exon6			GCCGGCGGGGAGT	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1067C>T	16.37:g.75269730G>A	ENSP00000162330:p.Pro356Leu	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	33	15	0.454545	NM_001170714	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	G	8.927	0.962569	0.18583	0.008837	2.38E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.41065	1.12;1.66;1.47;1.23;1.4;1.01;1.3;1.13;2.9	4.29	3.29	0.37713	.	0.858926	0.10058	N	0.721285	T	0.14399	0.0348	L	0.47716	1.5	0.29586	N	0.848804	B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.002;0.001;0.002;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B;B	0.09377	0.0;0.004;0.001;0.002;0.001;0.0;0.002;0.001;0.001	T	0.18555	-1.0333	10	0.21014	T	0.42	-13.6226	9.512	0.39082	0.113:0.0:0.887:0.0	.	374;208;402;354;374;374;356;356;146	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	L	356;374;374;356;402;208;374;354;327	ENSP00000162330:P356L;ENSP00000377074:P374L;ENSP00000392708:P374L;ENSP00000443841:P356L;ENSP00000391669:P402L;ENSP00000440370:P208L;ENSP00000377072:P374L;ENSP00000440415:P354L;ENSP00000442161:P327L	ENSP00000162330:P356L	P	-	2	0	BCAR1	73827231	0.006000	0.16342	0.262000	0.24481	0.052000	0.14988	1.241000	0.32743	0.871000	0.35750	0.558000	0.71614	CCG	G|0.991;A|0.009	0.009	strong		0.716	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		A	75269730	G	A	75269730	3	1	22	1	0	0	0	0	1	0	0	0	1348	1116	39	1	1557	1	BCAR1	16	75269730	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11113	75269730	15085023	8372	13480										
CHST5	23563	hgsc.bcm.edu	37	chr16	75563352	75563352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggtcaggccggtgaaggCgtagagtgcgcggatctctg	19	8	2	2	rs7206332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75563352C>T	ENST00000336257.3	-	3	2325	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.A317T	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	311			A -> T (in dbSNP:rs7206332).		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCGGTGAAGGCGTAGAGTGCG	0.677													C|||	124	0.0247604	0.0908	0.0058	5008	,	,		15530	0.0		0.0	False		,,,				2504	0.0				p.A311T		Atlas-SNP	.											CHST5,middle_lobe,carcinoma,+1,1	CHST5	47	1	0			c.G931A						PASS	.	C	THR/ALA	322,4070	164.0+/-195.7	15,292,1889	67	68	67		931	2.8	1	16	dbSNP_116	67	13,8587	7.7+/-29.5	0,13,4287	yes	missense	CHST5	NM_024533.4	58	15,305,6176	TT,TC,CC		0.1512,7.3315,2.5785	benign	311/412	75563352	335,12657	2196	4300	6496	SO:0001583	missense	23563	exon3			TGAAGGCGTAGAG	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.931G>A	16.37:g.75563352C>T	ENSP00000338783:p.Ala311Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	36	0.016483516483516484	32	0.06504065040650407	4	0.011049723756906077	0	0.0	0	0.0	C	6.674	0.492920	0.12702	0.073315	0.001512	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.23950	1.88;1.88	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.322809	0.31495	N	0.007547	T	0.01092	0.0036	L	0.29908	0.895	0.26382	N	0.976729	B;B	0.22851	0.062;0.076	B;B	0.22753	0.024;0.041	T	0.11567	-1.0582	10	0.25751	T	0.34	.	7.8661	0.29539	0.0:0.8684:0.0:0.1316	rs7206332;rs57580922;rs7206332	317;311	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	T	311;317	ENSP00000338783:A311T;ENSP00000441220:A317T	ENSP00000338783:A311T	A	-	1	0	CHST5	74120853	0.000000	0.05858	0.995000	0.50966	0.142000	0.21351	0.279000	0.18771	1.583000	0.49898	0.313000	0.20887	GCC	C|0.974;T|0.026	0.026	strong		0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		T	75563352	C	T	75563352	3	4	22	1	0	0	0	0	1	0	0	0	3407	768	27	1	308	1	CHST5	16	75563352	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	293622	75563352	14791401	8373	13481										
CHST5	23563	hgsc.bcm.edu	37	chr16	75563746	75563746	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcccgggccaggctgaaTggctgccgcgtgcacagtgt	15	14	0	1	rs8048818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75563746T>G	ENST00000336257.3	-	3	1931	c.537A>C	c.(535-537)ccA>ccC	p.P179P	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.P185P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	179					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCAGGCTGAATGGCTGCCGCG	0.672													G|||	1012	0.202077	0.3359	0.1441	5008	,	,		14472	0.2073		0.1998	False		,,,				2504	0.0593				p.P179P		Atlas-SNP	.											.	CHST5	47	.	0			c.A537C						PASS	.	G		1407,2989	676.5+/-403.2	236,935,1027	93	101	98		537	2.7	1	16	dbSNP_116	98	1688,6910	730.9+/-406.8	182,1324,2793	no	coding-synonymous	CHST5	NM_024533.4		418,2259,3820	GG,GT,TT		19.6325,32.0064,23.8187		179/412	75563746	3095,9899	2198	4299	6497	SO:0001819	synonymous_variant	23563	exon3			GCTGAATGGCTGC	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.537A>C	16.37:g.75563746T>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	57	21	0.368421	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	CCDS10919.1																																																																																			T|0.771;G|0.229	0.229	strong		0.672	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		G	75563746	T	G	75563746	2	3	22	1	0	0	0	0	0	0	0	1	3407	1451	51	5		5	CHST5	16	75563746	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	394	75563746	14791007	8374	13482										
CHST5	23563	hgsc.bcm.edu	37	chr16	75564172	75564172	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggcaggtggtctgtgcCaggaggagcactgtcactgt	17	8	2	0	rs74355367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:75564172C>G	ENST00000336257.3	-	3	1505	c.111G>C	c.(109-111)ctG>ctC	p.L37L	CHST5_ENST00000541075.1_Silent_p.L43L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	37					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGGTCTGTGCCAGGAGGAGCA	0.672													C|||	193	0.0385383	0.1422	0.0072	5008	,	,		17477	0.0		0.0	False		,,,				2504	0.0				p.L37L		Atlas-SNP	.											.	CHST5	47	.	0			c.G111C						PASS	.	C		537,3859	225.9+/-241.6	27,483,1688	32	28	29		111	1.1	1	16	dbSNP_131	29	16,8582	9.1+/-34.3	0,16,4283	no	coding-synonymous	CHST5	NM_024533.4		27,499,5971	GG,GC,CC		0.1861,12.2157,4.2558		37/412	75564172	553,12441	2198	4299	6497	SO:0001819	synonymous_variant	23563	exon3			CTGTGCCAGGAGG	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.111G>C	16.37:g.75564172C>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	CCDS10919.1																																																																																			C|0.955;G|0.045	0.045	strong		0.672	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		G	75564172	C	G	75564172	2	3	22	1	0	0	0	0	0	0	0	1	3407	581	21	4		4	CHST5	16	75564172	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	426	75564172	14790581	8375	13483										
VAT1L	57687	hgsc.bcm.edu	37	chr16	78011559	78011559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaccacgagggagacagCgagaacaaggagcggatgcc	17	9	0	2	rs3751769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:78011559C>T	ENST00000302536.2	+	9	1380	c.1227C>T	c.(1225-1227)agC>agT	p.S409S		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	409							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGGGAGACAGCGAGAACAAGG	0.512													C|||	653	0.130391	0.2776	0.0865	5008	,	,		19747	0.0357		0.0845	False		,,,				2504	0.1074				p.S409S		Atlas-SNP	.											.	VAT1L	68	.	0			c.C1227T						PASS	.	C		1059,3337	385.1+/-325.6	128,803,1267	175	132	146		1227	-9.9	0.4	16	dbSNP_107	146	709,7891	172.5+/-223.2	27,655,3618	no	coding-synonymous	VAT1L	NM_020927.1		155,1458,4885	TT,TC,CC		8.2442,24.0901,13.6042		409/420	78011559	1768,11228	2198	4300	6498	SO:0001819	synonymous_variant	57687	exon9			AGACAGCGAGAAC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1227C>T	16.37:g.78011559C>T		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	156	81	0.519231	NM_020927	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																			C|0.873;T|0.127	0.127	strong		0.512	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		T	78011559	C	T	78011559	2	4	22	1	0	0	0	0	0	0	0	1	17127	767	27	1		1	VAT1L	16	78011559	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2447387	78011559	12343194	8376	13484										
CLEC3A	10143	hgsc.bcm.edu	37	chr16	78064733	78064733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgcgagttcaccatccctCaataggtctttctccaatgt	6	12	4	0	rs2072663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:78064733C>A	ENST00000575655.1	+	3	670	c.589C>A	c.(589-591)Caa>Aaa	p.Q197K	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.Q206K|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	197			Q -> K (in dbSNP:rs2072663). {ECO:0000269|PubMed:12975309}.		skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACCATCCCTCAATAGGTCTT	0.413													C|||	658	0.13139	0.0719	0.1441	5008	,	,		20795	0.245		0.1223	False		,,,				2504	0.0951				p.Q206K		Atlas-SNP	.											.	CLEC3A	39	.	0			c.C616A						PASS	.	C	LYS/GLN	363,4033	170.1+/-200.6	15,333,1850	67	69	69		589	3.8	0.3	16	dbSNP_96	69	1147,7451	227.5+/-262.8	82,983,3234	yes	missense	CLEC3A	NM_005752.4	53	97,1316,5084	AA,AC,CC		13.3403,8.2575,11.6207	benign	197/198	78064733	1510,11484	2198	4299	6497	SO:0001583	missense	10143	exon3			ATCCCTCAATAGG	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.589C>A	16.37:g.78064733C>A	ENSP00000460682:p.Gln197Lys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_005752	B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37		329	0.15064102564102563	49	0.09959349593495935	45	0.12430939226519337	143	0.25	92	0.12137203166226913	C	10.14	1.268501	0.23136	0.082575	0.133403	ENSG00000166509	ENST00000299642	.	.	.	6.07	3.85	0.44370	.	21.172100	0.01519	N	0.018298	T	0.00012	0.0000	N	0.08118	0	0.50813	P	1.020000000000465E-4	B	0.06786	0.001	B	0.01281	0.0	T	0.21109	-1.0255	8	0.21540	T	0.41	.	10.2292	0.43245	0.0:0.1348:0.0:0.8652	rs2072663;rs2234867;rs60748914;rs2072663	197	O75596	CLC3A_HUMAN	K	197	.	ENSP00000299642:Q197K	Q	+	1	0	CLEC3A	76622234	0.904000	0.30761	0.264000	0.24511	0.032000	0.12392	3.057000	0.49931	0.547000	0.28938	-0.238000	0.12139	CAA	C|0.867;A|0.133	0.133	strong		0.413	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		A	78064733	C	A	78064733	3	1	22	1	0	0	0	0	1	0	0	0	3510	827	29	4	599	4	CLEC3A	16	78064733	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53174	78064733	12290020	8377	13485										
WWOX	51741	hgsc.bcm.edu	37	chr16	78148935	78148935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttactgtggatgataatcCgaccaagccaaccacccggc	9	13	0	1	rs144601717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:78148935C>T	ENST00000566780.1	+	4	659	c.293C>T	c.(292-294)cCg>cTg	p.P98L	WWOX_ENST00000402655.2_Missense_Mutation_p.P98L|WWOX_ENST00000408984.3_Missense_Mutation_p.P98L|WWOX_ENST00000355860.3_Missense_Mutation_p.P98L|WWOX_ENST00000406884.2_Missense_Mutation_p.P98L|WWOX_ENST00000539474.2_Missense_Mutation_p.P98L	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	98			P -> L (in dbSNP:rs144601717). {ECO:0000269|PubMed:11572989}.		cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GATGATAATCCGACCAAGCCA	0.502													C|||	54	0.0107827	0.0182	0.0086	5008	,	,		15548	0.0		0.0179	False		,,,				2504	0.0061				p.P98L		Atlas-SNP	.											.	WWOX	98	.	0			c.C293T						PASS	.	C	LEU/PRO,LEU/PRO	64,3644		0,64,1790	144	141	142		293,293	5.6	1	16	dbSNP_134	142	118,8072		0,118,3977	yes	missense,missense	WWOX	NM_016373.2,NM_130791.2	98,98	0,182,5767	TT,TC,CC		1.4408,1.726,1.5297	benign,benign	98/415,98/190	78148935	182,11716	1854	4095	5949	SO:0001583	missense	51741	exon4			ATAATCCGACCAA	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.293C>T	16.37:g.78148935C>T	ENSP00000457230:p.Pro98Leu	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	190	100	0.526316	NM_130791	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	25	0.011446886446886446	10	0.02032520325203252	4	0.011049723756906077	0	0.0	11	0.014511873350923483	C	16.10	3.026678	0.54683	0.01726	0.014408	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000402655;ENST00000406884;ENST00000539474	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.6	5.6	0.85130	.	0.205378	0.43416	D	0.000569	T	0.29976	0.0750	L	0.50333	1.59	0.58432	D	0.999999	B;P;P;B	0.48764	0.152;0.915;0.602;0.09	B;B;B;B	0.35510	0.057;0.204;0.032;0.01	T	0.36286	-0.9754	10	0.30078	T	0.28	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	98;98;98;98	Q9NZC7-6;Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;.;WWOX_HUMAN;.	L	98	ENSP00000386161:P98L;ENSP00000348119:P98L;ENSP00000384238:P98L;ENSP00000384495:P98L;ENSP00000445210:P98L	ENSP00000348119:P98L	P	+	2	0	WWOX	76706436	0.998000	0.40836	0.960000	0.40013	0.158000	0.22134	4.066000	0.57520	2.788000	0.95919	0.650000	0.86243	CCG	C|0.985;T|0.015	0.015	strong		0.502	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			T	78148935	C	T	78148935	3	4	22	1	0	0	0	0	1	0	0	0	17411	652	23	1	311	1	WWOX	16	78148935	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84202	78148935	12205818	8378	13486										
WWOX	51741	hgsc.bcm.edu	37	chr16	78458807	78458807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaacgcagcaacttttgctCtaccctggagtctcaccaaa	7	14	2	0	rs7201683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:78458807C>G	ENST00000566780.1	+	7	1012	c.646C>G	c.(646-648)Cta>Gta	p.L216V	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L216V|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	216	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.		L -> V (in dbSNP:rs7201683).		cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AACTTTTGCTCTACCCTGGAG	0.468													C|||	197	0.0393371	0.1218	0.0202	5008	,	,		19087	0.0		0.0089	False		,,,				2504	0.0133				p.L216V		Atlas-SNP	.											.	WWOX	98	.	0			c.C646G						PASS	.	C	VAL/LEU	370,3528		15,340,1594	281	282	282		646	1.1	0	16	dbSNP_116	282	102,8180		1,100,4040	yes	missense	WWOX	NM_016373.2	32	16,440,5634	GG,GC,CC		1.2316,9.492,3.8752	possibly-damaging	216/415	78458807	472,11708	1949	4141	6090	SO:0001583	missense	51741	exon7			TTTGCTCTACCCT	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.646C>G	16.37:g.78458807C>G	ENSP00000457230:p.Leu216Val	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	196	100	0.510204	NM_016373	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	79	0.036172161172161175	64	0.13008130081300814	9	0.024861878453038673	0	0.0	6	0.0079155672823219	C	0.015	-1.539831	0.00934	0.09492	0.012316	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.21191	2.02	5.66	1.14	0.20703	NAD(P)-binding domain (1);	0.170005	0.43416	D	0.000569	T	0.00109	0.0003	N	0.16016	0.355	0.80722	P	0.0	B	0.14805	0.011	B	0.22601	0.04	T	0.23691	-1.0181	9	0.40728	T	0.16	.	8.0658	0.30659	0.0:0.5003:0.1647:0.335	rs7201683;rs52793545;rs7201683	216	Q9NZC7	WWOX_HUMAN	V	216;59	ENSP00000386161:L216V	ENSP00000299644:L59V	L	+	1	2	WWOX	77016308	0.006000	0.16342	0.043000	0.18650	0.121000	0.20230	0.216000	0.17585	-0.215000	0.10063	-0.797000	0.03246	CTA	C|0.956;G|0.044	0.044	strong		0.468	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			G	78458807	C	G	78458807	3	3	22	1	0	0	0	0	1	0	0	0	17411	912	32	4	734	4	WWOX	16	78458807	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	309872	78458807	11895946	8379	13487										
CDYL2	124359	hgsc.bcm.edu	37	chr16	80642076	80642076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagacctgcgacaccagcccCctgctgcaggcctcctgggc	11	18	0	1	rs117351184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:80642076C>T	ENST00000570137.2	-	6	1430	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	CDYL2_ENST00000562812.1_Silent_p.R426R|CDYL2_ENST00000566173.1_Silent_p.R426R|CDYL2_ENST00000563890.1_Silent_p.R426R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	425						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ACACCAGCCCCCTGCTGCAGG	0.617													C|||	27	0.00539137	0.0	0.0029	5008	,	,		6251	0.0		0.0239	False		,,,				2504	0.001				p.R425R		Atlas-SNP	.											.	CDYL2	66	.	0			c.G1275A						PASS	.	C		15,4385		0,15,2185	36	26	30		1275	-5.3	0.9	16	dbSNP_132	30	120,8478		0,120,4179	no	coding-synonymous	CDYL2	NM_152342.2		0,135,6364	TT,TC,CC		1.3957,0.3409,1.0386		425/507	80642076	135,12863	2200	4299	6499	SO:0001819	synonymous_variant	124359	exon6			CAGCCCCCTGCTG	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1275G>A	16.37:g.80642076C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_152342	Q7Z5I8	Silent	SNP	ENST00000570137.2	37	CCDS32493.1																																																																																			C|0.990;T|0.010	0.010	strong		0.617	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		T	80642076	C	T	80642076	2	4	22	1	0	0	0	0	0	0	0	1	3186	622	22	2		2	CDYL2	16	80642076	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2183269	80642076	9712677	8380	13488										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81208348	81208348	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtctgacgtctatgctcaGtgactgtcctgagccctggc	11	13	3	3	rs745211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81208348G>T	ENST00000527937.1	-	0	636				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			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						TCTATGCTCAGTGACTGTCCT	0.622													G|||	336	0.0670927	0.2443	0.0187	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0				p.L919M		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C2755A						PASS	.	G	MET/LEU,MET/LEU	897,3165		103,691,1237	55	54	54		2755,2755	4.3	0	16	dbSNP_86	54	8,8374		0,8,4183	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	15,15	103,699,5420	TT,TG,GG		0.0954,22.0827,7.2726	probably-damaging,probably-damaging	919/992,919/2460	81208348	905,11539	2031	4191	6222			114780	exon16			TGCTCAGTGACTG	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		16.37:g.81208348G>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	118	67	0.567797	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		139|139	0.06364468864468864|0.06364468864468864	134|134	0.27235772357723576|0.27235772357723576	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	15.20|15.20	2.762411|2.762411	0.49468|0.49468	0.220827|0.220827	9.54E-4|9.54E-4	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937|ENST00000526632	T;T;T|.	0.34667|.	2.35;4.96;1.35|.	4.33|4.33	4.33|4.33	0.51752|0.51752	Egg jelly receptor, REJ-like (1);|.	1.304660|.	0.05138|.	N|.	0.493678|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	D;D;B|.	0.89917|.	0.999;1.0;0.329|.	D;D;B|.	0.74348|.	0.967;0.983;0.077|.	T|T	0.03086|0.03086	-1.1074|-1.1074	8|3	0.87932|.	D|.	0|.	-5.2934|-5.2934	14.1184|14.1184	0.65169|0.65169	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs745211;rs52837063;rs745211|rs745211;rs52837063;rs745211	175;919;919|.	Q7Z442-6;Q7Z442-3;Q7Z442|.	.;.;PK1L2_HUMAN|.	M|N	234;919;175|446	ENSP00000436309:L234M;ENSP00000337397:L919M;ENSP00000432818:L175M|.	ENSP00000337397:L919M|.	L|T	-|-	1|2	2|0	PKD1L2|PKD1L2	79765849|79765849	0.108000|0.108000	0.22018|0.22018	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	3.794000|3.794000	0.55492|0.55492	2.116000|2.116000	0.64780|0.64780	0.555000|0.555000	0.69702|0.69702	CTG|ACT	G|0.924;T|0.076	0.076	strong		0.622	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			T	81208348	G	T	81208348	1	4	22	0	1	0	0	0	0	0	0	0	11965	1020	36	4		4	PKD1L2	16	81208348	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	566272	81208348	9146405	8381	13489										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81208473	81208473	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggattttctctgacacgGcagcctggaatgctacatcc	11	11	1	1	rs115666278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81208473G>T	ENST00000527937.1	-	0	511				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			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						CTCTGACACGGCAGCCTGGAA	0.557													G|||	302	0.0603035	0.2186	0.0187	5008	,	,		19807	0.0		0.0	False		,,,				2504	0.0				p.A877D		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C2630A						PASS	.	G	ASP/ALA,ASP/ALA	829,3309		91,647,1331	66	64	65		2630,2630	-1.8	0	16	dbSNP_132	65	8,8426		0,8,4209	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	126,126	91,655,5540	TT,TG,GG		0.0949,20.0338,6.6577	possibly-damaging,possibly-damaging	877/992,877/2460	81208473	837,11735	2069	4217	6286			114780	exon16			GACACGGCAGCCT	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		16.37:g.81208473G>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	90	43	0.477778	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		126|126	0.057692307692307696|0.057692307692307696	121|121	0.2459349593495935|0.2459349593495935	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.39|13.39	2.221594|2.221594	0.39300|0.39300	0.200338|0.200338	9.49E-4|9.49E-4	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937|ENST00000526632	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	4.55|4.55	-1.81|-1.81	0.07882|0.07882	Egg jelly receptor, REJ-like (1);|.	1.422600|.	0.04339|.	N|.	0.353783|.	T|.	0.00012|.	0.0000|.	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	P;P;B|.	0.37636|.	0.513;0.603;0.009|.	B;B;B|.	0.40009|.	0.299;0.316;0.009|.	T|.	0.29458|.	-1.0011|.	8|.	0.66056|.	D|.	0.02|.	-0.6932|-0.6932	8.1615|8.1615	0.31201|0.31201	0.6442:0.0:0.3558:0.0|0.6442:0.0:0.3558:0.0	.|.	133;877;877|.	Q7Z442-6;Q7Z442-3;Q7Z442|.	.;.;PK1L2_HUMAN|.	D|X	192;877;133|404	ENSP00000436309:A192D;ENSP00000337397:A877D;ENSP00000432818:A133D|.	ENSP00000337397:A877D|.	A|C	-|-	2|3	0|2	PKD1L2|PKD1L2	79765974|79765974	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.031000|0.031000	0.13710|0.13710	-0.115000|-0.115000	0.11915|0.11915	0.555000|0.555000	0.69702|0.69702	GCC|TGC	G|0.963;T|0.037	0.037	strong		0.557	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			T	81208473	G	T	81208473	1	4	22	0	1	0	0	0	0	0	0	0	11965	1203	42	4		4	PKD1L2	16	81208473	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	125	81208473	9146280	8382	13490										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81211496	81211496	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagctcgtcagaacggtgcCctcctctggggcaatagtgc	12	12	2	1	rs9935113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81211496C>A	ENST00000527937.1	-	0	319				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			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						AGAACGGTGCCCTCCTCTGGG	0.597													C|||	1042	0.208067	0.2791	0.1744	5008	,	,		17905	0.1052		0.171	False		,,,				2504	0.2802				p.G785C		Atlas-SNP	.											.	PKD1L2	361	.	0			c.G2353T						PASS	.	C	CYS/GLY,CYS/GLY	1011,3087		126,759,1164	79	81	80		2353,2353	4.9	0.6	16	dbSNP_119	80	1412,6976		122,1168,2904	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	159,159	248,1927,4068	AA,AC,CC		16.8336,24.6706,19.4057	probably-damaging,probably-damaging	785/992,785/2460	81211496	2423,10063	2049	4194	6243			114780	exon14			CGGTGCCCTCCTC	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		16.37:g.81211496C>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	69	38	0.550725	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		368|368	0.1684981684981685|0.1684981684981685	132|132	0.2682926829268293|0.2682926829268293	59|59	0.16298342541436464|0.16298342541436464	53|53	0.09265734265734266|0.09265734265734266	124|124	0.16358839050131926|0.16358839050131926	C|C	14.11|14.11	2.437976|2.437976	0.43326|0.43326	0.246706|0.246706	0.168336|0.168336	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114|ENST00000526632	D;D|.	0.85629|.	-2.01;-2.01|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.067594|0.067594	0.64402|0.64402	D|D	0.000012|0.000012	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.33815|0.33815	P|P	0.37165400000000004|0.37165400000000004	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	T|T	0.01290|0.01290	-1.1394|-1.1394	8|4	0.87932|.	D|.	0|.	-13.2573|-13.2573	15.0685|15.0685	0.72014|0.72014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs9935113;rs52837465;rs57029035;rs9935113|rs9935113;rs52837465;rs57029035;rs9935113	785;785|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	C|V	100;785|312	ENSP00000436309:G100C;ENSP00000337397:G785C|.	ENSP00000337397:G785C|.	G|G	-|-	1|2	0|0	PKD1L2|PKD1L2	79768997|79768997	1.000000|1.000000	0.71417|0.71417	0.603000|0.603000	0.28903|0.28903	0.040000|0.040000	0.13550|0.13550	3.894000|3.894000	0.56250|0.56250	2.289000|2.289000	0.77006|0.77006	0.549000|0.549000	0.68633|0.68633	GGC|GGG	C|0.823;A|0.177	0.177	strong		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			A	81211496	C	A	81211496	1	1	22	0	1	0	0	0	0	0	0	0	11965	623	22	4		4	PKD1L2	16	81211496	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3023	81211496	9143257	8383	13491										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81211548	81211548	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacggggaggcacagtgctGatcacataggtgtcctcccc	12	13	2	1	rs9934605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81211548G>A	ENST00000527937.1	-	0	319				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			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						GCACAGTGCTGATCACATAGG	0.602													G|||	1112	0.222045	0.3328	0.1772	5008	,	,		18192	0.1032		0.172	False		,,,				2504	0.2781				p.I767I		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C2301T						PASS	.	G	,	1176,2894		174,828,1033	56	56	56		2301,2301	3.9	0.9	16	dbSNP_119	56	1410,6994		121,1168,2913	no	coding-synonymous,coding-synonymous	PKD1L2	NM_001076780.1,NM_052892.3	,	295,1996,3946	AA,AG,GG		16.7777,28.8943,20.7311	,	767/992,767/2460	81211548	2586,9888	2035	4202	6237			114780	exon14			AGTGCTGATCACA	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		16.37:g.81211548G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	50	29	0.58	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37		392	0.1794871794871795	154	0.3130081300813008	61	0.1685082872928177	53	0.09265734265734266	124	0.16358839050131926	G	3.327	-0.137495	0.06711	0.288943	0.167777	ENSG00000166473	ENST00000526632	.	.	.	4.89	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999992	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4679	10.5049	0.44828	0.0916:0.0:0.9084:0.0	rs9934605;rs9934605	.	.	.	X	295	.	.	Q	-	1	0	PKD1L2	79769049	1.000000	0.71417	0.921000	0.36526	0.235000	0.25334	1.823000	0.39062	1.088000	0.41272	0.549000	0.68633	CAG	G|0.813;A|0.187	0.187	strong		0.602	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			A	81211548	G	A	81211548	1	1	22	0	1	0	0	0	0	0	0	0	11965	1280	45	2		2	PKD1L2	16	81211548	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52	81211548	9143205	8384	13492										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81219187	81219187	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctctcagaacagccaggCgcagggtgacagcagagtca	14	12	2	3	rs13339342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81219187C>T	ENST00000525539.1	-	0	1906				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						AACAGCCAGGCGCAGGGTGAC	0.642													c|||	762	0.152157	0.1309	0.1585	5008	,	,		16480	0.0417		0.168	False		,,,				2504	0.274				p.R636H		Atlas-SNP	.											PKD1L2_ENST00000525539,NS,carcinoma,-1,2	PKD1L2	361	2	0			c.G1907A						PASS	.	T	HIS/ARG,HIS/ARG	551,3597		37,477,1560	35	45	42		1907,1907	-9.7	0	16	dbSNP_121	42	1377,7047		113,1151,2948	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	29,29	150,1628,4508	TT,TC,CC		16.3462,13.2835,15.3357	benign,benign	636/992,636/2460	81219187	1928,10644	2074	4212	6286			114780	exon11			GCCAGGCGCAGGG	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		16.37:g.81219187C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		264	0.12087912087912088	62	0.12601626016260162	56	0.15469613259668508	23	0.04020979020979021	123	0.16226912928759896	c	8.903	0.956878	0.18507	0.132835	0.163462	ENSG00000166473	ENST00000337114	T	0.70749	-0.51	4.83	-9.66	0.00534	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.252640	0.05331	N	0.528415	T	0.00241	0.0007	.	.	.	0.80722	P	0.0	B;B	0.23316	0.011;0.083	B;B	0.22386	0.007;0.039	T	0.01839	-1.1263	8	0.20046	T	0.44	-3.9833	9.6762	0.40043	0.0:0.2218:0.185:0.5933	rs13339342;rs52836229;rs13339342	636;636	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	H	636	ENSP00000337397:R636H	ENSP00000337397:R636H	R	-	2	0	PKD1L2	79776688	0.000000	0.05858	0.014000	0.15608	0.622000	0.37654	-1.453000	0.02383	-1.677000	0.01455	-0.229000	0.12294	CGC	C|0.865;T|0.135	0.135	strong		0.642	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81219187	C	T	81219187	1	4	22	0	1	0	0	0	0	0	0	0	11965	768	27	1		1	PKD1L2	16	81219187	RNA	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7639	81219187	9135566	8385	13493										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81232426	81232426	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtcctgtccaagctccaAatggtcagaagcccaggagg	12	11	1	1	rs9934856	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81232426A>C	ENST00000525539.1	-	0	1383				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						CCAAGCTCCAAATGGTCAGAA	0.557													A|||	101	0.0201677	0.0734	0.0058	5008	,	,		20314	0.0		0.0	False		,,,				2504	0.0				p.L462V		Atlas-SNP	.											.	PKD1L2	361	.	0			c.T1384G						PASS	.	A	VAL/LEU,VAL/LEU	224,3784		6,212,1786	128	131	130		1384,1384	-7.3	0	16	dbSNP_119	130	0,8340		0,0,4170	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	32,32	6,212,5956	CC,CA,AA		0.0,5.5888,1.8141	benign,benign	462/992,462/2460	81232426	224,12124	2004	4170	6174			114780	exon7			GCTCCAAATGGTC	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		16.37:g.81232426A>C		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	203	111	0.546798	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	A	2.456	-0.325238	0.05350	0.055888	0.0	ENSG00000166473	ENST00000337114	T	0.01304	5.03	4.77	-7.3	0.01446	Egg jelly receptor, REJ-like (1);	0.379301	0.24776	N	0.035687	T	0.00144	0.0004	.	.	.	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.19666	0.026;0.002	T	0.44498	-0.9324	9	0.23302	T	0.38	-1.4298	11.0124	0.47669	0.1809:0.5054:0.3137:0.0	rs9934856;rs52821211;rs56414767;rs9934856	462;462	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	462	ENSP00000337397:L462V	ENSP00000337397:L462V	L	-	1	2	PKD1L2	79789927	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.318000	0.08050	-1.278000	0.02408	-1.249000	0.01516	TTG	A|0.984;C|0.016;G|0.000	0.016	strong		0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81232426	A	C	81232426	1	2	22	0	1	0	0	0	0	0	0	0	11965	11	1	5		5	PKD1L2	16	81232426	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13239	81232426	9122327	8386	13494										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81242184	81242184	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatctgctgccacctggcaTgactgtagctcctggcactg	10	14	2	1	rs9927930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81242184T>C	ENST00000525539.1	-	0	671				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						CCACCTGGCATGACTGTAGCT	0.562													T|||	184	0.0367412	0.1339	0.0101	5008	,	,		20552	0.0		0.0	False		,,,				2504	0.0				p.S224S		Atlas-SNP	.											.	PKD1L2	361	.	0			c.A672G						PASS	.	T	,	433,3807		22,389,1709	75	73	74		672,672	-8.6	0.6	16	dbSNP_119	74	3,8453		0,3,4225	no	coding-synonymous,coding-synonymous	PKD1L2	NM_001076780.1,NM_052892.3	,	22,392,5934	CC,CT,TT		0.0355,10.2123,3.4342	,	224/992,224/2460	81242184	436,12260	2120	4228	6348			114780	exon4			CTGGCATGACTGT	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		16.37:g.81242184T>C		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	47	21	0.446809	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																				T|0.951;C|0.049	0.049	strong		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81242184	T	C	81242184	1	2	22	0	1	0	0	0	0	0	0	0	11965	1451	51	2		2	PKD1L2	16	81242184	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9758	81242184	9112569	8387	13495										
BCMO1	53630	hgsc.bcm.edu	37	chr16	81301571	81301571	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtgttctgctccatcccAtcccgctccctgctctcccc	7	20	2	0	rs7202895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81301571A>G	ENST00000258168.2	+	6	1139	c.678A>G	c.(676-678)ccA>ccG	p.P226P	BCMO1_ENST00000425577.2_Silent_p.P157P	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCTCCATCCCATCCCGCTCCC	0.522													a|||	711	0.141973	0.4312	0.062	5008	,	,		19057	0.0099		0.0447	False		,,,				2504	0.044				p.P226P		Atlas-SNP	.											.	BCMO1	53	.	0			c.A678G						PASS	.			1551,2853	487.4+/-360.9	274,1003,925	134	105	115		678	-0.9	0.9	16	dbSNP_116	115	345,8255	117.2+/-176.8	11,323,3966	no	coding-synonymous	BCMO1	NM_017429.2		285,1326,4891	GG,GA,AA		4.0116,35.218,14.5801		226/548	81301571	1896,11108	2202	4300	6502	SO:0001819	synonymous_variant	53630	exon6			CATCCCATCCCGC																												ENST00000258168.2:c.678A>G	16.37:g.81301571A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	115	49	0.426087	NM_017429		Silent	SNP	ENST00000258168.2	37	CCDS10934.1																																																																																			A|0.850;G|0.150	0.150	strong		0.522	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			G	81301571	A	G	81301571	2	3	22	1	0	0	0	0	0	0	0	1	1384	204	8	2		2	BCMO1	16	81301571	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59387	81301571	9053182	8388	13496										
GAN	8139	hgsc.bcm.edu	37	chr16	81398635	81398635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgggtggaggctcctaCggaaagctttttgagtctgt	14	8	1	1	rs2608555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81398635C>T	ENST00000568107.2	+	8	1455	c.1293C>T	c.(1291-1293)taC>taT	p.Y431Y		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	431					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGGCTCCTACGGAAAGCTTT	0.498													c|||	757	0.151158	0.1778	0.1225	5008	,	,		17016	0.0407		0.2644	False		,,,				2504	0.1329				p.Y431Y	GBM(106;1239 1507 7582 9741 33976)	Atlas-SNP	.											.	GAN	59	.	0			c.C1293T						PASS	.	T		844,3560	333.3+/-302.9	74,696,1432	72	68	69		1293	-0.5	0.4	16	dbSNP_100	69	2144,6456	367.9+/-334.9	267,1610,2423	no	coding-synonymous	GAN	NM_022041.3		341,2306,3855	TT,TC,CC		24.9302,19.1644,22.9775		431/598	81398635	2988,10016	2202	4300	6502	SO:0001819	synonymous_variant	8139	exon8			CTCCTACGGAAAG	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1293C>T	16.37:g.81398635C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	87	35	0.402299	NM_022041		Silent	SNP	ENST00000568107.2	37	CCDS10935.1																																																																																			C|0.800;T|0.200	0.200	strong		0.498	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			T	81398635	C	T	81398635	2	4	22	1	0	0	0	0	0	0	0	1	6232	547	19	1		1	GAN	16	81398635	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97064	81398635	8956118	8389	13497										
PLCG2	5336	hgsc.bcm.edu	37	chr16	81960783	81960783	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgaggagctagaaaagcaGgtgagtccccctcttcgatc	11	11	1	2	rs115583707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:81960783G>A	ENST00000359376.3	+	23	2728	c.2514G>A	c.(2512-2514)caG>caA	p.Q838Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	838					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TAGAAAAGCAGGTGAGTCCCC	0.512													G|||	54	0.0107827	0.0356	0.0101	5008	,	,		20557	0.0		0.0	False		,,,				2504	0.0				p.Q838Q		Atlas-SNP	.											.	PLCG2	276	.	0			c.G2514A						PASS	.	G		149,3837		3,143,1847	109	107	107		2514	5.3	1	16	dbSNP_132	107	1,8337		0,1,4168	yes	coding-synonymous-near-splice	PLCG2	NM_002661.3		3,144,6015	AA,AG,GG		0.012,3.7381,1.2171		838/1266	81960783	150,12174	1993	4169	6162	SO:0001630	splice_region_variant	5336	exon23			AAAGCAGGTGAGT		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2514+1G>A	16.37:g.81960783G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																			G|0.984;A|0.016	0.016	strong		0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		Silent	A	81960783	G	A	81960783	5	1	22	1	0	0	0	0	0	0	1	0	12036	1014	35	2	2600	2	PLCG2	16	81960783	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	562148	81960783	8393970	8390	13498										
SDR42E1	93517	hgsc.bcm.edu	37	chr16	82033612	82033612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctgacgttgacttcttTgatcaggtttcgattgagtt	10	9	2	4	rs16956174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:82033612T>C	ENST00000328945.5	-	3	413	c.286A>G	c.(286-288)Aaa>Gaa	p.K96E	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	96			K -> E (in dbSNP:rs16956174).		steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTGACTTCTTTGATCAGGTTT	0.488													C|||	1141	0.227835	0.7088	0.0677	5008	,	,		21252	0.0536		0.0179	False		,,,				2504	0.0869				p.K96E		Atlas-SNP	.											.	SDR42E1	26	.	0			c.A286G						PASS	.	C	GLU/LYS	2302,1742		650,1002,370	157	158	158		286	1.8	0	16	dbSNP_123	158	151,8207		0,151,4028	yes	missense	SDR42E1	NM_145168.2	56	650,1153,4398	CC,CT,TT		1.8067,43.0762,19.7791	benign	96/394	82033612	2453,9949	2022	4179	6201	SO:0001583	missense	93517	exon3			CTTCTTTGATCAG	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.286A>G	16.37:g.82033612T>C	ENSP00000332407:p.Lys96Glu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	138	137	0.992754	NM_145168	B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	CCDS42205.1	376	0.17216117216117216	326	0.6626016260162602	23	0.06353591160220995	17	0.02972027972027972	10	0.013192612137203167	C	0.013	-1.634753	0.00806	0.569238	0.018067	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.87809	-2.3;-2.3	6.03	1.82	0.25136	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.139530	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00116	-2.08	0.53688	P	2.2999999999995246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	9	0.02654	T	1	-4.4625	7.1368	0.25533	0.0:0.5818:0.2278:0.1904	rs16956174;rs56515135;rs60686248;rs16956174	96	Q8WUS8	D42E1_HUMAN	E	96;93	ENSP00000332407:K96E;ENSP00000434529:K93E	ENSP00000332407:K96E	K	-	1	0	SDR42E1	80591113	0.984000	0.35163	0.008000	0.14137	0.025000	0.11179	2.684000	0.46951	-0.070000	0.12908	-0.812000	0.03155	AAA	T|0.823;C|0.177	0.177	strong		0.488	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		C	82033612	T	C	82033612	3	2	22	1	0	0	0	0	1	0	0	0	13973	1821	63	2	899	2	SDR42E1	16	82033612	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	72829	82033612	8321141	8391	13499										
SDR42E1	93517	hgsc.bcm.edu	37	chr16	82034435	82034435	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctcctgtaatgaggacaCtttccttttgagatcttttg	7	9	1	2	rs6564956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:82034435C>G	ENST00000328945.5	-	2	156	c.29G>C	c.(28-30)aGt>aCt	p.S10T	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	10			S -> T (in dbSNP:rs6564956).		steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AATGAGGACACTTTCCTTTTG	0.383													G|||	717	0.143171	0.4198	0.0389	5008	,	,		20442	0.0516		0.005	False		,,,				2504	0.0798				p.S10T		Atlas-SNP	.											.	SDR42E1	26	.	0			c.G29C						PASS	.	G	THR/SER	1212,2514		204,804,855	87	88	87		29	2.5	0.1	16	dbSNP_116	87	68,8134		0,68,4033	yes	missense	SDR42E1	NM_145168.2	58	204,872,4888	GG,GC,CC		0.8291,32.5282,10.7311	benign	10/394	82034435	1280,10648	1863	4101	5964	SO:0001583	missense	93517	exon2			AGGACACTTTCCT	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.29G>C	16.37:g.82034435C>G	ENSP00000332407:p.Ser10Thr	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_145168	B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	CCDS42205.1	228	0.1043956043956044	198	0.4024390243902439	12	0.03314917127071823	16	0.027972027972027972	2	0.002638522427440633	G	0.018	-1.478217	0.01035	0.325282	0.008291	ENSG00000184860	ENST00000328945	D	0.86769	-2.17	5.59	2.47	0.30058	NAD(P)-binding domain (1);	0.307447	0.39475	N	0.001352	T	0.00012	0.0000	N	0.04724	-0.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	9	0.06891	T	0.86	-2.5276	9.095	0.36634	0.1292:0.3298:0.541:0.0	rs6564956;rs52804854;rs57510790;rs6564956	10	Q8WUS8	D42E1_HUMAN	T	10	ENSP00000332407:S10T	ENSP00000332407:S10T	S	-	2	0	SDR42E1	80591936	0.025000	0.19082	0.098000	0.21074	0.467000	0.32768	0.397000	0.20883	0.286000	0.22352	-0.127000	0.14921	AGT	C|0.924;G|0.076	0.076	strong		0.383	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		G	82034435	C	G	82034435	3	3	22	1	0	0	0	0	1	0	0	0	13973	565	20	4	1160	4	SDR42E1	16	82034435	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	823	82034435	8320318	8392	13500										
CDH13	1012	hgsc.bcm.edu	37	chr16	82892037	82892037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaagtgttccatatcaAtcagccagctgaattcattg	8	9	3	2	rs72807847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:82892037A>G	ENST00000566620.1	+	2	406	c.116A>G	c.(115-117)aAt>aGt	p.N39S	CDH13_ENST00000268613.10_Missense_Mutation_p.N86S|CDH13_ENST00000431540.3_Missense_Mutation_p.N39S|CDH13_ENST00000428848.3_Missense_Mutation_p.N39S|CDH13_ENST00000446376.2_Missense_Mutation_p.N39S|CDH13_ENST00000567445.1_Missense_Mutation_p.N39S|CDH13_ENST00000565636.1_Missense_Mutation_p.N39S	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	39					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)		TTCCATATCAATCAGCCAGCT	0.378													A|||	219	0.04373	0.0446	0.0029	5008	,	,		19142	0.0595		0.007	False		,,,				2504	0.093				p.N86S		Atlas-SNP	.											.	CDH13	97	.	0			c.A257G						PASS	.	A	SER/ASN,SER/ASN,,SER/ASN,SER/ASN,SER/ASN	118,3660		3,112,1774	91	87	88		257,116,,116,116,116	3.6	0	16	dbSNP_130	88	61,8161		0,61,4050	yes	missense,missense,utr-5,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001220491.1,NM_001220492.1,NM_001257.4	46,46,,46,46,46	3,173,5824	GG,GA,AA		0.7419,3.1233,1.4917	benign,benign,,benign,benign,benign	86/761,39/675,,39/191,39/176,39/714	82892037	179,11821	1889	4111	6000	SO:0001583	missense	1012	exon3			ATATCAATCAGCC	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.116A>G	16.37:g.82892037A>G	ENSP00000454435:p.Asn39Ser	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	177	64	0.361582	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	68	0.031135531135531136	27	0.054878048780487805	2	0.0055248618784530384	36	0.06293706293706294	3	0.00395778364116095	A	3.901	-0.022010	0.07634	0.031233	0.007419	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000539548;ENST00000431540;ENST00000446376	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.95	3.61	0.41365	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.12156	0.004;0.007;0.003;0.001	T	0.15925	-1.0420	9	0.08179	T	0.78	.	7.9329	0.29912	0.7918:0.1373:0.0709:0.0	.	39;86;39;39	B7Z590;B7Z9B1;A8W477;P55290	.;.;.;CAD13_HUMAN	S	86;39;39;39;39;39	ENSP00000268613:N86S;ENSP00000394557:N39S;ENSP00000442225:N39S;ENSP00000408632:N39S;ENSP00000388804:N39S	ENSP00000268613:N86S	N	+	2	0	CDH13	81449538	0.146000	0.22672	0.043000	0.18650	0.992000	0.81027	2.525000	0.45598	1.082000	0.41137	-0.263000	0.10527	AAT	A|0.972;G|0.028	0.028	strong		0.378	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	82892037	A	G	82892037	3	3	22	1	0	0	0	0	1	0	0	0	3099	101	4	2	122	2	CDH13	16	82892037	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	857602	82892037	7462716	8393	13501										
CDH13	1012	hgsc.bcm.edu	37	chr16	83378487	83378487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatttgtggagaccactgaTgtcaatggcaaaactctcga	9	9	2	2	rs145120824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:83378487T>C	ENST00000566620.1	+	6	947	c.657T>C	c.(655-657)gaT>gaC	p.D219D	CDH13_ENST00000268613.10_Silent_p.D266D|CDH13_ENST00000428848.3_Silent_p.D180D|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	219	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)		AGACCACTGATGTCAATGGCA	0.438													T|||	21	0.00419329	0.0144	0.0029	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.0				p.D266D		Atlas-SNP	.											.	CDH13	97	.	0			c.T798C						PASS	.	T	,,,	47,3655		0,47,1804	78	80	79		798,540,,657	3.5	0.8	16	dbSNP_134	79	0,8178		0,0,4089	no	coding-synonymous,coding-synonymous,utr-5,coding-synonymous	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	,,,	0,47,5893	CC,CT,TT		0.0,1.2696,0.3956	,,,	266/761,180/675,,219/714	83378487	47,11833	1851	4089	5940	SO:0001819	synonymous_variant	1012	exon7			CACTGATGTCAAT	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.657T>C	16.37:g.83378487T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	120	48	0.4	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																			T|0.996;C|0.004	0.004	strong		0.438	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		C	83378487	T	C	83378487	2	2	22	1	0	0	0	0	0	0	0	1	3099	1461	51	2		2	CDH13	16	83378487	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	486450	83378487	6976266	8394	13502										
OSGIN1	29948	hgsc.bcm.edu	37	chr16	83999000	83999000	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgtctgccctggaggcCgccacaagggtgggtgcggt	18	11	1	0	rs3743627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:83999000C>G	ENST00000343939.2	+	7	1454	c.1071C>G	c.(1069-1071)gcC>gcG	p.A357A	OSGIN1_ENST00000393306.1_Silent_p.A274A|OSGIN1_ENST00000361711.3_Silent_p.A274A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	357					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCCTGGAGGCCGCCACAAGGG	0.706													G|||	648	0.129393	0.2806	0.0548	5008	,	,		15108	0.0446		0.0626	False		,,,				2504	0.1339				p.A274A		Atlas-SNP	.											.	OSGIN1	33	.	0			c.C822G						PASS	.	G	,,	965,3361		108,749,1306	19	24	22		1071,822,822	-3.2	0.2	16	dbSNP_107	22	450,8000		12,426,3787	yes	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	120,1175,5093	GG,GC,CC		5.3254,22.307,11.0755	,,	357/561,274/478,274/478	83999000	1415,11361	2163	4225	6388	SO:0001819	synonymous_variant	29948	exon6			GGAGGCCGCCACA	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1071C>G	16.37:g.83999000C>G		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	17	8	0.470588	NM_182981	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37																																																																																				C|0.896;G|0.104	0.104	strong		0.706	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		G	83999000	C	G	83999000	2	3	22	1	0	0	0	0	0	0	0	1	11289	639	23	4		4	OSGIN1	16	83999000	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	620513	83999000	6355753	8395	13503										
NECAB2	54550	hgsc.bcm.edu	37	chr16	84027966	84027966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtgtggaagccccactcCcgcctctgcccccaaccaca	8	20	1	0	rs79514285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84027966C>T	ENST00000305202.4	+	7	673	c.656C>T	c.(655-657)cCc>cTc	p.P219L	NECAB2_ENST00000565691.1_Missense_Mutation_p.P136L|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	219						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AGCCCCACTCCCGCCTCTGCC	0.617													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		16456	0.0		0.0	False		,,,				2504	0.0				p.P219L		Atlas-SNP	.											.	NECAB2	36	.	0			c.C656T						PASS	.	C	LEU/PRO	49,4351	50.2+/-85.5	0,49,2151	56	55	55		656	2.6	0	16	dbSNP_131	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NECAB2	NM_019065.2	98	0,50,6450	TT,TC,CC		0.0116,1.1136,0.3846	possibly-damaging	219/387	84027966	50,12950	2200	4300	6500	SO:0001583	missense	54550	exon7			CCACTCCCGCCTC	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.656C>T	16.37:g.84027966C>T	ENSP00000307449:p.Pro219Leu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	50	0.50505	NM_019065	A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	6.435	0.448444	0.12223	0.011136	1.16E-4	ENSG00000103154	ENST00000305202	T	0.18338	2.22	4.58	2.62	0.31277	.	0.326488	0.32868	N	0.005554	T	0.09598	0.0236	L	0.44542	1.39	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.27773	-1.0064	10	0.21540	T	0.41	-9.3808	10.4175	0.44331	0.0:0.7817:0.1375:0.0809	.	219	Q7Z6G3	NECA2_HUMAN	L	219	ENSP00000307449:P219L	ENSP00000307449:P219L	P	+	2	0	NECAB2	82585467	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.654000	0.37334	0.128000	0.18479	-1.872000	0.00552	CCC	C|0.996;T|0.004	0.004	strong		0.617	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		T	84027966	C	T	84027966	3	4	22	1	0	0	0	0	1	0	0	0	10305	623	22	2	682	2	NECAB2	16	84027966	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28966	84027966	6326787	8396	13504										
SLC38A8	146167	hgsc.bcm.edu	37	chr16	84050218	84050218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgccatggcgagcgtcacGgtgacccacaggatggtcag	15	12	2	1	rs13334006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84050218G>A	ENST00000299709.3	-	8	1067	c.1068C>T	c.(1066-1068)acC>acT	p.T356T		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	356					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGAGCGTCACGGTGACCCACA	0.627													G|||	295	0.0589058	0.2156	0.0144	5008	,	,		20259	0.0		0.0	False		,,,				2504	0.0				p.T356T		Atlas-SNP	.											.	SLC38A8	60	.	0			c.C1068T						PASS	.	G		822,3578	326.1+/-299.4	78,666,1456	74	67	69		1068	-7.5	0	16	dbSNP_121	69	12,8588	7.7+/-29.5	0,12,4288	no	coding-synonymous	SLC38A8	NM_001080442.1		78,678,5744	AA,AG,GG		0.1395,18.6818,6.4154		356/436	84050218	834,12166	2200	4300	6500	SO:0001819	synonymous_variant	146167	exon8			CGTCACGGTGACC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1068C>T	16.37:g.84050218G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	36	21	0.583333	NM_001080442		Silent	SNP	ENST00000299709.3	37	CCDS32495.1																																																																																			G|0.939;A|0.061	0.061	strong		0.627	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		A	84050218	G	A	84050218	2	1	22	1	0	0	0	0	0	0	0	1	14610	1103	39	1		1	SLC38A8	16	84050218	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22252	84050218	6304535	8397	13505										
SLC38A8	146167	hgsc.bcm.edu	37	chr16	84056442	84056442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacaccagggcccagtggGagaggctccgtttgcgcatg	15	12	0	2	rs11861325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84056442G>C	ENST00000299709.3	-	6	742	c.743C>G	c.(742-744)tCc>tGc	p.S248C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	248					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGCCCAGTGGGAGAGGCTCCG	0.617													G|||	179	0.0357428	0.1271	0.0115	5008	,	,		17454	0.0		0.001	False		,,,				2504	0.002				p.S248C		Atlas-SNP	.											.	SLC38A8	60	.	0			c.C743G						PASS	.	G	CYS/SER	463,3937	217.1+/-235.6	27,409,1764	84	67	73		743	1	0	16	dbSNP_120	73	4,8596	3.0+/-9.4	0,4,4296	yes	missense	SLC38A8	NM_001080442.1	112	27,413,6060	CC,CG,GG		0.0465,10.5227,3.5923	probably-damaging	248/436	84056442	467,12533	2200	4300	6500	SO:0001583	missense	146167	exon6			CAGTGGGAGAGGC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.743C>G	16.37:g.84056442G>C	ENSP00000299709:p.Ser248Cys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_001080442		Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	71	0.03250915750915751	65	0.13211382113821138	6	0.016574585635359115	0	0.0	0	0.0	G	9.359	1.067547	0.20067	0.105227	4.65E-4	ENSG00000166558	ENST00000299709	T	0.02421	4.3	5.37	0.968	0.19680	.	0.403682	0.28322	N	0.015761	T	0.00109	0.0003	M	0.67953	2.075	0.43114	D	0.994829	D	0.65815	0.995	P	0.61800	0.894	T	0.12344	-1.0551	10	0.62326	D	0.03	.	10.254	0.43385	0.0736:0.4038:0.5226:0.0	rs11861325	248	A6NNN8	S38A8_HUMAN	C	248	ENSP00000299709:S248C	ENSP00000299709:S248C	S	-	2	0	SLC38A8	82613943	0.961000	0.32948	0.019000	0.16419	0.034000	0.12701	4.054000	0.57434	-0.033000	0.13736	0.549000	0.68633	TCC	G|0.961;C|0.039	0.039	strong		0.617	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		C	84056442	G	C	84056442	3	2	22	1	0	0	0	0	1	0	0	0	14610	1174	41	4	584	4	SLC38A8	16	84056442	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6224	84056442	6298311	8398	13506										
MBTPS1	8720	hgsc.bcm.edu	37	chr16	84097021	84097021	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggggacgttttcaacaaCtgctgtttcctgctttaaaa	8	8	1	0	rs35417190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84097021C>G	ENST00000343411.3	-	19	2956	c.2461G>C	c.(2461-2463)Gtt>Ctt	p.V821L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	821					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTCAACAACTGCTGTTTCC	0.438											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	15	0.00299521	0.0091	0.0043	5008	,	,		17016	0.0		0.0	False		,,,				2504	0.0				p.V821L		Atlas-SNP	.											.	MBTPS1	85	.	0			c.G2461C						PASS	.	C	LEU/VAL	40,4360	43.8+/-77.6	0,40,2160	78	75	76		2461	2.4	0.1	16	dbSNP_126	76	0,8600		0,0,4300	yes	missense	MBTPS1	NM_003791.2	32	0,40,6460	GG,GC,CC		0.0,0.9091,0.3077	benign	821/1053	84097021	40,12960	2200	4300	6500	SO:0001583	missense	8720	exon19			CAACAACTGCTGT	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2461G>C	16.37:g.84097021C>G	ENSP00000344223:p.Val821Leu	Somatic	123	0	0	1226	WXS	Illumina HiSeq	Phase_I	120	53	0.441667	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	10.63	1.403350	0.25291	0.009091	0.0	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.30182	1.54	5.44	2.36	0.29203	.	0.294067	0.37261	N	0.002176	T	0.10465	0.0256	N	0.16656	0.425	0.40773	D	0.983105	B	0.02656	0.0	B	0.04013	0.001	T	0.10730	-1.0617	10	0.25106	T	0.35	-6.6213	4.5503	0.12108	0.2657:0.5222:0.0:0.2121	rs35417190	821	Q14703	MBTP1_HUMAN	L	821;266	ENSP00000344223:V821L	ENSP00000344223:V821L	V	-	1	0	MBTPS1	82654522	0.002000	0.14202	0.082000	0.20525	0.989000	0.77384	0.019000	0.13444	0.335000	0.23614	0.491000	0.48974	GTT	C|0.997;G|0.003	0.003	strong		0.438	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		G	84097021	C	G	84097021	3	3	22	1	0	0	0	0	1	0	0	0	9361	565	20	4	717	4	MBTPS1	16	84097021	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40579	84097021	6257732	8399	13507										
HSDL1	83693	hgsc.bcm.edu	37	chr16	84158248	84158248	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagactcaggctgtgcagGataaggcttccttacgtagt	11	10	1	1	rs4378600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84158248G>C	ENST00000219439.4	-	6	1156	c.980C>G	c.(979-981)tCc>tGc	p.S327C	HSDL1_ENST00000565275.1_5'Flank|HSDL1_ENST00000434463.3_Missense_Mutation_p.S272C	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	327			S -> C (in dbSNP:rs4378600). {ECO:0000269|PubMed:14702039}.			mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GGCTGTGCAGGATAAGGCTTC	0.428													G|||	1238	0.247204	0.236	0.1729	5008	,	,		21727	0.2331		0.3161	False		,,,				2504	0.2587				p.S327C		Atlas-SNP	.											.	HSDL1	23	.	0			c.C980G						PASS	.	G	CYS/SER,CYS/SER	1021,3379	378.0+/-322.7	118,785,1297	112	98	103		815,980	5.6	1	16	dbSNP_111	103	2505,6095	410.7+/-350.2	346,1813,2141	yes	missense,missense	HSDL1	NM_001146051.1,NM_031463.4	112,112	464,2598,3438	CC,CG,GG		29.1279,23.2045,27.1231	benign,benign	272/276,327/331	84158248	3526,9474	2200	4300	6500	SO:0001583	missense	83693	exon6			GTGCAGGATAAGG	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.980C>G	16.37:g.84158248G>C	ENSP00000219439:p.Ser327Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	54	0.435484	NM_031463	B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	CCDS10942.1	546	0.25	115	0.23373983739837398	71	0.19613259668508287	123	0.21503496503496503	237	0.31266490765171506	G	13.14	2.147509	0.37923	0.232045	0.291279	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.83673	-1.12;-1.75	5.6	5.6	0.85130	.	0.580099	0.17534	N	0.170776	T	0.00012	0.0000	L	0.55481	1.735	0.80722	P	0.0	P;P	0.50710	0.726;0.938	B;B	0.40101	0.319;0.319	T	0.03619	-1.1019	9	0.56958	D	0.05	-30.9015	12.4939	0.55916	0.077:0.0:0.923:0.0	rs4378600;rs17652812;rs52833604;rs4378600	272;327	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	C	272;327	ENSP00000407437:S272C;ENSP00000219439:S327C	ENSP00000219439:S327C	S	-	2	0	HSDL1	82715749	0.982000	0.34865	0.993000	0.49108	0.401000	0.30781	4.775000	0.62346	2.808000	0.96608	0.650000	0.86243	TCC	G|0.737;C|0.263	0.263	strong		0.428	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		C	84158248	G	C	84158248	3	2	22	1	0	0	0	0	1	0	0	0	7393	1174	41	4	16	4	HSDL1	16	84158248	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61227	84158248	6196505	8400	13508										
TAF1C	9013	hgsc.bcm.edu	37	chr16	84212779	84212779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtcaactcctgggagggcGgggtcgtggggggcaggggc	23	8	1	0	rs2230131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84212779G>A	ENST00000567759.1	-	14	2560	c.2378C>T	c.(2377-2379)cCg>cTg	p.P793L	TAF1C_ENST00000570117.1_Missense_Mutation_p.P461L|TAF1C_ENST00000566732.1_Missense_Mutation_p.P767L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P793L|TAF1C_ENST00000541676.1_Missense_Mutation_p.P700L|TAF1C_ENST00000341690.6_Missense_Mutation_p.P699L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	793			P -> L (in dbSNP:rs2230131). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.4}.		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTGGGAGGGCGGGGTCGTGGG	0.647													G|||	795	0.158746	0.208	0.0648	5008	,	,		14150	0.1508		0.1103	False		,,,				2504	0.2168				p.P793L		Atlas-SNP	.											.	TAF1C	60	.	0			c.C2378T						PASS	.	G	LEU/PRO,LEU/PRO	861,3537		79,703,1417	20	17	18		2378,2096	2.2	0	16	dbSNP_98	18	804,7788		46,712,3538	yes	missense,missense	TAF1C	NM_005679.3,NM_139353.2	98,98	125,1415,4955	AA,AG,GG		9.3575,19.5771,12.8176	possibly-damaging,possibly-damaging	793/870,699/776	84212779	1665,11325	2199	4296	6495	SO:0001583	missense	9013	exon14			GAGGGCGGGGTCG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2378C>T	16.37:g.84212779G>A	ENSP00000455265:p.Pro793Leu	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	70	36	0.514286	NM_005679	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	296	0.13553113553113552	105	0.21341463414634146	29	0.08011049723756906	78	0.13636363636363635	84	0.11081794195250659	G	11.18	1.563138	0.27915	0.195771	0.093575	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02579	4.24;4.24;4.24	5.3	2.21	0.28008	.	0.366869	0.21074	N	0.080606	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B;B;B;B	0.32717	0.078;0.381;0.007;0.032	B;B;B;B	0.26202	0.014;0.067;0.006;0.01	T	0.45220	-0.9276	9	0.72032	D	0.01	-8.6675	4.7623	0.13113	0.1809:0.0:0.6479:0.1712	rs2230131;rs3743641	767;316;793;699	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	793;700;699;316	ENSP00000367802:P793L;ENSP00000437900:P700L;ENSP00000345305:P699L	ENSP00000345305:P699L	P	-	2	0	TAF1C	82770280	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.120000	0.31271	0.219000	0.20840	-0.136000	0.14681	CCG	G|0.840;A|0.160	0.160	strong		0.647	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		A	84212779	G	A	84212779	3	1	22	1	0	0	0	0	1	0	0	0	15518	1116	39	1	235	1	TAF1C	16	84212779	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54531	84212779	6141974	8401	13509										
TAF1C	9013	hgsc.bcm.edu	37	chr16	84212928	84212928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccgcctggtctgtctcccGggctccgaggtcctgccctg	14	17	2	0	rs3743642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84212928G>A	ENST00000567759.1	-	14	2411	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	TAF1C_ENST00000570117.1_Silent_p.P411P|TAF1C_ENST00000378541.4_Silent_p.P743P|TAF1C_ENST00000541676.1_Silent_p.P650P|TAF1C_ENST00000341690.6_Silent_p.P649P|TAF1C_ENST00000566732.1_Silent_p.P717P	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	743					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGTCTCCCGGGCTCCGAGG	0.672													G|||	771	0.153954	0.1914	0.0634	5008	,	,		13013	0.1498		0.1064	False		,,,				2504	0.2209				p.P743P		Atlas-SNP	.											.	TAF1C	60	.	0			c.C2229T						PASS	.	G	,	774,3600		65,644,1478	13	17	16		2229,1947	-3.5	0	16	dbSNP_107	16	772,7788		40,692,3548	no	coding-synonymous,coding-synonymous	TAF1C	NM_005679.3,NM_139353.2	,	105,1336,5026	AA,AG,GG		9.0187,17.6955,11.953	,	743/870,649/776	84212928	1546,11388	2187	4280	6467	SO:0001819	synonymous_variant	9013	exon14			TCTCCCGGGCTCC	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2229C>T	16.37:g.84212928G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	110	56	0.509091	NM_005679	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	CCDS32496.1																																																																																			G|0.867;A|0.133	0.133	strong		0.672	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		A	84212928	G	A	84212928	2	1	22	1	0	0	0	0	0	0	0	1	15518	1103	39	1		1	TAF1C	16	84212928	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149	84212928	6141825	8402	13510										
ADAD2	161931	hgsc.bcm.edu	37	chr16	84228770	84228770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccatactgggcctgtaagGggactgtggctggagtcatc	15	10	1	0	rs11149631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84228770G>C	ENST00000315906.5	+	4	755	c.703G>C	c.(703-705)Ggg>Cgg	p.G235R	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G307R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	235			G -> R (in dbSNP:rs11149631).		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGCCTGTAAGGGGACTGTGGC	0.667													G|||	1383	0.276158	0.4463	0.2363	5008	,	,		16039	0.1964		0.3101	False		,,,				2504	0.1217				p.G307R		Atlas-SNP	.											.	ADAD2	46	.	0			c.G919C						PASS	.	G	ARG/GLY,ARG/GLY	1854,2546	504.4+/-365.8	394,1066,740	28	30	29		703,919	2.8	1	16	dbSNP_120	29	2543,6053	385.8+/-341.6	380,1783,2135	yes	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	125,125	774,2849,2875	CC,CG,GG		29.5835,42.1364,33.8335	possibly-damaging,possibly-damaging	235/584,307/666	84228770	4397,8599	2200	4298	6498	SO:0001583	missense	161931	exon5			TGTAAGGGGACTG	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.703G>C	16.37:g.84228770G>C	ENSP00000325153:p.Gly235Arg	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	666	0.30494505494505497	231	0.4695121951219512	95	0.26243093922651933	105	0.18356643356643357	235	0.3100263852242744	G	11.12	1.544385	0.27563	0.421364	0.295835	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.17054	2.3;2.3	4.9	2.82	0.32997	.	0.266470	0.29383	N	0.012303	T	0.00012	0.0000	L	0.35854	1.095	0.35317	P	0.21559300000000003	B;B	0.33755	0.037;0.424	B;B	0.37692	0.03;0.256	T	0.49560	-0.8927	9	0.35671	T	0.21	-21.8216	5.6378	0.17546	0.1068:0.2017:0.6915:0.0	rs11149631;rs60033045;rs11149631	235;307	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	235;307	ENSP00000325153:G235R;ENSP00000268624:G307R	ENSP00000268624:G307R	G	+	1	0	ADAD2	82786271	0.994000	0.37717	1.000000	0.80357	0.671000	0.39405	1.829000	0.39121	2.419000	0.82065	0.650000	0.86243	GGG	G|0.680;C|0.320	0.320	strong		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		C	84228770	G	C	84228770	3	2	22	1	0	0	0	0	1	0	0	0	232	1232	43	4	937	4	ADAD2	16	84228770	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15842	84228770	6125983	8403	13511										
ADAD2	161931	hgsc.bcm.edu	37	chr16	84230500	84230500	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccctaccaggaggctcgcAggcagctgtctctcctcctg	12	16	1	0	rs2303243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84230500A>C	ENST00000315906.5	+	10	1724	c.1672A>C	c.(1672-1674)Agg>Cgg	p.R558R	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.R640R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	558	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGAGGCTCGCAGGCAGCTGTC	0.677													C|||	1608	0.321086	0.5764	0.245	5008	,	,		14316	0.1984		0.3101	False		,,,				2504	0.1677				p.R640R		Atlas-SNP	.											ADAD2,NS,carcinoma,0,1	ADAD2	46	1	0			c.A1918C						scavenged	.	C	,	2284,2090		620,1044,523	12	12	12		1672,1918	4	1	16	dbSNP_100	12	2473,6103		392,1689,2207	no	coding-synonymous,coding-synonymous	ADAD2	NM_001145400.1,NM_139174.3	,	1012,2733,2730	CC,CA,AA		28.8363,47.7824,36.7336	,	558/584,640/666	84230500	4757,8193	2187	4288	6475	SO:0001819	synonymous_variant	161931	exon11			GCTCGCAGGCAGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1672A>C	16.37:g.84230500A>C		Somatic	180	2	0.0111111		WXS	Illumina HiSeq	Phase_I	166	165	0.993976	NM_139174	B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	CCDS45536.1																																																																																			A|0.666;C|0.334	0.334	strong		0.677	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		C	84230500	A	C	84230500	2	2	22	1	0	0	0	0	0	0	0	1	232	179	7	5		5	ADAD2	16	84230500	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1730	84230500	6124253	8404	13512										
KCNG4	93107	hgsc.bcm.edu	37	chr16	84256410	84256410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctccaggtaggagctccCgctcggcctctcgccgtcct	10	18	2	0	rs7196482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84256410C>T	ENST00000308251.4	-	3	1041	c.973G>A	c.(973-975)Ggg>Agg	p.G325R		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	325			G -> R (in dbSNP:rs7196482).		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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TAGGAGCTCCCGCTCGGCCTC	0.677													C|||	885	0.176717	0.2156	0.1686	5008	,	,		17359	0.0506		0.2266	False		,,,				2504	0.2086				p.G325R		Atlas-SNP	.											.	KCNG4	71	.	0			c.G973A						PASS	.	C	ARG/GLY	942,3458	340.2+/-306.1	109,724,1367	30	33	32		973	-2.7	0	16	dbSNP_116	32	1922,6678	321.7+/-315.2	212,1498,2590	no	missense	KCNG4	NM_172347.2	125	321,2222,3957	TT,TC,CC		22.3488,21.4091,22.0308	probably-damaging	325/520	84256410	2864,10136	2200	4300	6500	SO:0001583	missense	93107	exon3			AGCTCCCGCTCGG	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.973G>A	16.37:g.84256410C>T	ENSP00000312129:p.Gly325Arg	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	369	0.16895604395604397	101	0.20528455284552846	63	0.17403314917127072	26	0.045454545454545456	179	0.23614775725593667	C	8.185	0.794792	0.16327	0.214091	0.223488	ENSG00000168418	ENST00000308251	D	0.97041	-4.22	5.61	-2.74	0.05932	Ion transport (1);	0.310951	0.34268	N	0.004108	T	0.00552	0.0018	M	0.75085	2.285	0.58432	P	6.999999999979245E-6	D	0.56521	0.976	P	0.51516	0.672	T	0.50642	-0.8804	9	0.72032	D	0.01	.	8.1708	0.31254	0.0:0.3567:0.1088:0.5345	rs7196482;rs59048729;rs7196482	325	Q8TDN1	KCNG4_HUMAN	R	325	ENSP00000312129:G325R	ENSP00000312129:G325R	G	-	1	0	KCNG4	82813911	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.117000	0.10708	-0.433000	0.07286	0.655000	0.94253	GGG	C|0.810;T|0.190	0.190	strong		0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84256410	C	T	84256410	3	4	22	1	0	0	0	0	1	0	0	0	8030	652	23	1	588	1	KCNG4	16	84256410	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25910	84256410	6098343	8405	13513										
KCNG4	93107	hgsc.bcm.edu	37	chr16	84270650	84270650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcgatgccccagtaggCcagctcctcctggaaggaca	10	16	0	0	rs61743417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84270650C>T	ENST00000308251.4	-	2	510	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	KCNG4_ENST00000568181.1_Missense_Mutation_p.A148T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	148					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCCCAGTAGGCCAGCTCCTCC	0.667													C|||	149	0.0297524	0.1097	0.0058	5008	,	,		16764	0.0		0.0	False		,,,				2504	0.0				p.A148T		Atlas-SNP	.											KCNG4,NS,carcinoma,0,1	KCNG4	71	1	0			c.G442A						PASS	.	C	THR/ALA	380,4020	191.6+/-217.2	19,342,1839	42	43	42		442	-1	0.6	16	dbSNP_129	42	0,8600		0,0,4300	yes	missense	KCNG4	NM_172347.2	58	19,342,6139	TT,TC,CC		0.0,8.6364,2.9231	benign	148/520	84270650	380,12620	2200	4300	6500	SO:0001583	missense	93107	exon2			AGTAGGCCAGCTC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.442G>A	16.37:g.84270650C>T	ENSP00000312129:p.Ala148Thr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	142	59	0.415493	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	48	0.02197802197802198	47	0.09552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	4.103	0.017220	0.07959	0.086364	0.0	ENSG00000168418	ENST00000308251	T	0.76709	-1.04	5.11	-1.05	0.10036	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.951541	0.08816	N	0.889546	T	0.02727	0.0082	N	0.11818	0.18	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.01215	-1.1416	10	0.16896	T	0.51	.	9.62	0.39716	0.0:0.3441:0.0:0.6559	.	148;148	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	T	148	ENSP00000312129:A148T	ENSP00000312129:A148T	A	-	1	0	KCNG4	82828151	0.000000	0.05858	0.631000	0.29282	0.993000	0.82548	-0.583000	0.05807	-0.538000	0.06281	-0.275000	0.10095	GCC	C|0.971;T|0.029	0.029	strong		0.667	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84270650	C	T	84270650	3	4	22	1	0	0	0	0	1	0	0	0	8030	739	26	2	1123	2	KCNG4	16	84270650	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14240	84270650	6084103	8406	13514										
ATP2C2	9914	hgsc.bcm.edu	37	chr16	84492984	84492984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatcatggatgggccaccGgcgcagaggtgaggcagggc	17	10	2	2	rs7187624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84492984G>A	ENST00000262429.4	+	23	2414	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.P775P	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	775					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGGGCCACCGGCGCAGAGGT	0.632													G|||	77	0.0153754	0.0514	0.0058	5008	,	,		17868	0.0		0.005	False		,,,				2504	0.0				p.P775P		Atlas-SNP	.											.	ATP2C2	75	.	0			c.G2325A						PASS	.	G		175,3791		3,169,1811	48	52	51		2325	-9.4	0	16	dbSNP_116	51	117,8201		2,113,4044	no	coding-synonymous	ATP2C2	NM_014861.2		5,282,5855	AA,AG,GG		1.4066,4.4125,2.3771		775/947	84492984	292,11992	1983	4159	6142	SO:0001819	synonymous_variant	9914	exon23			GCCACCGGCGCAG	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2325G>A	16.37:g.84492984G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	117	49	0.418803	NM_014861	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																			G|0.981;A|0.019	0.019	strong		0.632	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		A	84492984	G	A	84492984	2	1	22	1	0	0	0	0	0	0	0	1	1144	1103	39	1		1	ATP2C2	16	84492984	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222334	84492984	5861769	8407	13515										
ATP2C2	9914	hgsc.bcm.edu	37	chr16	84497336	84497337	+	Stop_Codon_Ins	INS	-	-	AGTGGA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcaccctgaagatgtgtINSagtggaccgcactccgcggc					rs149491518|rs568403499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84497336_84497337insAGTGGA	ENST00000262429.4	+	0	2928_2929				ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Stop_Codon_Ins	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGAAGATGTGTAGTGGACCGCA	0.54														67	0.0133786	0.0499	0.0014	5008	,	,		19122	0.0		0.0	False		,,,				2504	0.0				p.X947delinsX		Pindel,Atlas-Indel	.											.	ATP2C2	75	.	0			c.2839_2840insAGTGGA						PASS	.			151,3647		1,149,1749						3.1	0		dbSNP_134	118	1,7939		0,1,3969	no	coding	ATP2C2	NM_014861.2		1,150,5718	A1A1,A1R,RR		0.0126,3.9758,1.2949				152,11586				SO:0001567	stop_retained_variant	9914	exon27			.	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2839_2844dupAGTGGA	16.37:g.84497337_84497342dupAGTGGA		Somatic	146	.	.		WXS	Illumina HiSeq	Phase_I	120	26	0.217	NM_014861	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	In_Frame_Ins	INS	ENST00000262429.4	37	CCDS42207.1																																																																																			-|0.987;AGTGGA|0.013	0.013	strong		0.54	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		AGTGGA	84497337	-	AGTGGA	84497336	7	5	22	1	0	1	1	0	0	0	0	0	1144	1651	57	0	2945	0	ATP2C2	16	84497336	Stop_Codon_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	4352	84497336	5857417	8408	13516										
KIAA1609	57707	hgsc.bcm.edu	37	chr16	84520496	84520496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccctggtccacttgacgCtcagggaccagggtagtcag	13	13	2	1	rs34244563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84520496C>G	ENST00000343629.6	-	5	881	c.699G>C	c.(697-699)gaG>gaC	p.E233D	TLDC1_ENST00000561807.1_5'Flank|TLDC1_ENST00000535580.1_Missense_Mutation_p.E206D	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	233			E -> D (in dbSNP:rs34244563).			lysosomal membrane (GO:0005765)											CCACTTGACGCTCAGGGACCA	0.572													C|||	55	0.0109824	0.0401	0.0014	5008	,	,		21248	0.0		0.001	False		,,,				2504	0.0				p.E233D		Atlas-SNP	.											.	KIAA1609	39	.	0			c.G699C						PASS	.	C	ASP/GLU	128,4272	91.6+/-130.3	3,122,2075	45	44	44		699	5	0.4	16	dbSNP_126	44	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIAA1609	NM_020947.3	45	3,125,6372	GG,GC,CC		0.0349,2.9091,1.0077	possibly-damaging	233/457	84520496	131,12869	2200	4300	6500	SO:0001583	missense	57707	exon5			TTGACGCTCAGGG	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.699G>C	16.37:g.84520496C>G	ENSP00000343635:p.Glu233Asp	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	145	72	0.496552	NM_020947	Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	27	0.012362637362637362	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	9.308	1.054856	0.19907	0.029091	3.49E-4	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.10668	3.03;2.85	4.98	4.98	0.66077	.	0.749691	0.13046	N	0.418157	T	0.01905	0.0060	M	0.67953	2.075	0.25363	N	0.988763	P;B	0.51933	0.949;0.251	B;B	0.43301	0.415;0.051	T	0.19128	-1.0315	10	0.22706	T	0.39	-28.8132	7.464	0.27312	0.0:0.725:0.1841:0.0909	rs34244563	206;233	F5GWS3;Q6P9B6	.;K1609_HUMAN	D	233;206	ENSP00000343635:E233D;ENSP00000441997:E206D	ENSP00000343635:E233D	E	-	3	2	KIAA1609	83077997	0.971000	0.33674	0.403000	0.26384	0.015000	0.08874	1.112000	0.31172	2.295000	0.77249	0.563000	0.77884	GAG	C|0.989;G|0.011	0.011	strong		0.572	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		G	84520496	C	G	84520496	3	3	22	1	0	0	0	0	1	0	0	0	8247	796	28	4	687	4	KIAA1609	16	84520496	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23160	84520496	5834257	8409	13517										
KIAA1609	57707	hgsc.bcm.edu	37	chr16	84529358	84529360	+	In_Frame_Del	DEL	CTC	CTC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcataatcatgagactcttCtcctcggagtttcctttcaa					rs200260198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84529358_84529360delCTC	ENST00000343629.6	-	3	495_497	c.313_315delGAG	c.(313-315)gagdel	p.E105del	TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_In_Frame_Del_p.E78del|RP11-517C16.4_ENST00000568771.1_RNA	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	105						lysosomal membrane (GO:0005765)											TGAGACTCTTCTCCTCGGAGTTT	0.542														32	0.00638978	0.0219	0.0029	5008	,	,		19194	0.0		0.001	False		,,,				2504	0.0				p.105_106del		Pindel,Atlas-Indel	.											.	KIAA1609	39	.	0			c.314_316del						PASS	.			120,4144		5,110,2017						4.2	0.9			119	32,8222		12,8,4107	no	coding	KIAA1609	NM_020947.3		17,118,6124	A1A1,A1R,RR		0.3877,2.8143,1.2143				152,12366				SO:0001651	inframe_deletion	57707	exon3			.	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.313_315delGAG	16.37:g.84529361_84529363delCTC	ENSP00000343635:p.Glu105del	Somatic	226	.	.		WXS	Illumina HiSeq	Phase_I	184	53	0.288	NM_020947	Q8IZ64|Q9HCG3|Q9NTE8	In_Frame_Del	DEL	ENST00000343629.6	37	CCDS32498.1																																																																																			CTC|0.994;-|0.006	0.006	strong		0.542	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		-	84529360	CTC	-	84529358	7	5	22	1	0	1	0	1	0	0	0	0	8247	912	32	0	1079	0	KIAA1609	16	84529358	In_Frame_Del	DEL	CTC	TCGA-G8-6324-01A-11D-2210-10	8862	84529358	5825395	8410	13518										
COTL1	23406	hgsc.bcm.edu	37	chr16	84651452	84651452	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaagttcctaccagatgacGgccgagccgtcgtcgcgcac	11	14	0	2	rs144159131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84651452G>C	ENST00000262428.4	-	1	231	c.69C>G	c.(67-69)gcC>gcG	p.A23A	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	23	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACCAGATGACGGCCGAGCCGT	0.706													g|||	3	0.000599042	0.0015	0.0	5008	,	,		7761	0.0		0.0	False		,,,				2504	0.001				p.A23A		Atlas-SNP	.											.	COTL1	17	.	0			c.C69G						PASS	.			4,4354		0,4,2175	19	15	16		69	-5.9	1	16	dbSNP_134	16	0,8534		0,0,4267	no	coding-synonymous	COTL1	NM_021149.2		0,4,6442	CC,CG,GG		0.0,0.0918,0.031		23/143	84651452	4,12888	2179	4267	6446	SO:0001819	synonymous_variant	23406	exon1			GATGACGGCCGAG	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.69C>G	16.37:g.84651452G>C		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	35	16	0.457143	NM_021149	B2RDU3|D3DUL9|Q86XM5	Silent	SNP	ENST00000262428.4	37	CCDS10947.1																																																																																			G|0.999;C|0.001	0.001	strong		0.706	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		C	84651452	G	C	84651452	2	2	22	1	0	0	0	0	0	0	0	1	3761	1103	39	4		4	COTL1	16	84651452	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	122094	84651452	5703301	8411	13519										
KLHL36	79786	hgsc.bcm.edu	37	chr16	84691256	84691256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaacctggcggcccagccCgtcatgcagaccaagcgcac	10	17	1	1	rs12102528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84691256C>T	ENST00000564996.1	+	3	984	c.843C>T	c.(841-843)ccC>ccT	p.P281P	KLHL36_ENST00000258157.5_Silent_p.P281P	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	281					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGGCCCAGCCCGTCATGCAGA	0.677													C|||	79	0.0157748	0.0567	0.0058	5008	,	,		17332	0.0		0.0	False		,,,				2504	0.0				p.P281P		Atlas-SNP	.											.	KLHL36	51	.	0			c.C843T						PASS	.	C		208,4182		6,196,1993	29	28	28		843	-3.6	1	16	dbSNP_120	28	1,8595		0,1,4297	no	coding-synonymous	KLHL36	NM_024731.2		6,197,6290	TT,TC,CC		0.0116,4.738,1.6094		281/617	84691256	209,12777	2195	4298	6493	SO:0001819	synonymous_variant	79786	exon3			CCAGCCCGTCATG	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.843C>T	16.37:g.84691256C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	59	23	0.38983	NM_024731	Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	CCDS10948.1																																																																																			C|0.984;T|0.016	0.016	strong		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			T	84691256	C	T	84691256	2	4	22	1	0	0	0	0	0	0	0	1	8389	639	23	1		1	KLHL36	16	84691256	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39804	84691256	5663497	8412	13520										
USP10	9100	hgsc.bcm.edu	37	chr16	84778261	84778261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaatatcagagaattgaGtttggtgtcgatgaagtcat	11	4	2	4	rs77170713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84778261G>A	ENST00000219473.7	+	4	287	c.174G>A	c.(172-174)gaG>gaA	p.E58E	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Silent_p.E62E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	58	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGAGAATTGAGTTTGGTGTCG	0.403													G|||	27	0.00539137	0.0204	0.0	5008	,	,		16411	0.0		0.0	False		,,,				2504	0.0				p.E62E		Atlas-SNP	.											.	USP10	51	.	0			c.G186A						PASS	.	G		55,3637		0,55,1791	45	43	43		174	-3	1	16	dbSNP_131	43	1,8163		0,1,4081	no	coding-synonymous	USP10	NM_005153.2		0,56,5872	AA,AG,GG		0.0122,1.4897,0.4723		58/799	84778261	56,11800	1846	4082	5928	SO:0001819	synonymous_variant	9100	exon5			AATTGAGTTTGGT	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.174G>A	16.37:g.84778261G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	145	77	0.531034	NM_001272075	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	12.78	2.039111	0.35989	0.014897	1.22E-4	ENSG00000103194	ENST00000540269	.	.	.	5.06	-3.04	0.05412	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67538	-0.5645	5	0.66056	D	0.02	-22.7486	11.4442	0.50114	0.7447:0.0:0.2553:0.0	.	.	.	.	N	38	.	ENSP00000445589:S38N	S	+	2	0	USP10	83335762	1.000000	0.71417	0.969000	0.41365	0.892000	0.51952	0.653000	0.24902	-0.665000	0.05317	-0.339000	0.08088	AGT	G|0.997;A|0.003	0.003	strong		0.403	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84778261	G	A	84778261	2	1	22	1	0	0	0	0	0	0	0	1	17038	1020	36	2		2	USP10	16	84778261	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87005	84778261	5576492	8413	13521										
USP10	9100	hgsc.bcm.edu	37	chr16	84778690	84778690	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatttatgggtgacatgccCccgtcagttacgcccaggac					rs1812062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84778690C>T	ENST00000219473.7	+	4	716	c.603C>T	c.(601-603)ccC>ccT	p.P201P	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Silent_p.P205P	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	201					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTGACATGCCCCCGTCAGTTA	0.542													C|||	1406	0.280751	0.2337	0.121	5008	,	,		17581	0.4107		0.1531	False		,,,				2504	0.455				p.P205P		Atlas-SNP	.											.	USP10	51	.	0			c.C615T						PASS	.	C		800,3184		77,646,1269	31	30	30		603	-5.5	0	16	dbSNP_92	30	1136,7192		76,984,3104	no	coding-synonymous	USP10	NM_005153.2		153,1630,4373	TT,TC,CC		13.6407,20.0803,15.7245		201/799	84778690	1936,10376	1992	4164	6156	SO:0001819	synonymous_variant	9100	exon5			CATGCCCCCGTCA	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.603C>T	16.37:g.84778690C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	209	103	0.492823	NM_001272075	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																			C|0.773;T|0.227	0.227	strong		0.542	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			T	84778690	C	T	84778690	2	4	22	1	0	0	0	0	0	0	0	1	17038	610	22	2		2	USP10	16	84778690	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	429	84778690	5576063	8414	13522	281	2								
USP10	9100	hgsc.bcm.edu	37	chr16	84778694	84778694	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatgggtgacatgcccccgTcagttacgcccaggacttgt					rs2326391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:84778694T>C	ENST00000219473.7	+	4	720	c.607T>C	c.(607-609)Tca>Cca	p.S203P	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S207P	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	203			S -> P (in dbSNP:rs2326391). {ECO:0000269|PubMed:15489334}.		autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CATGCCCCCGTCAGTTACGCC	0.547													T|||	1406	0.280751	0.2337	0.121	5008	,	,		17497	0.4107		0.1531	False		,,,				2504	0.455				p.S207P		Atlas-SNP	.											.	USP10	51	.	0			c.T619C						PASS	.	T	PRO/SER	824,3138		80,664,1237	30	29	29		607	-2.2	0	16	dbSNP_100	29	1157,7163		83,991,3086	no	missense	USP10	NM_005153.2	74	163,1655,4323	CC,CT,TT		13.9062,20.7976,16.1293	benign	203/799	84778694	1981,10301	1981	4160	6141	SO:0001583	missense	9100	exon5			CCCCCGTCAGTTA	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.607T>C	16.37:g.84778694T>C	ENSP00000219473:p.Ser203Pro	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	209	105	0.502392	NM_001272075	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	528	0.24175824175824176	114	0.23170731707317074	48	0.13259668508287292	256	0.44755244755244755	110	0.14511873350923482	T	4.094	0.015431	0.07959	0.207976	0.139063	ENSG00000103194	ENST00000219473	T	0.08282	3.11	5.17	-2.15	0.07102	.	1.297810	0.05133	N	0.492893	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.47649	-0.9101	9	0.42905	T	0.14	3.5779	7.0558	0.25099	0.0:0.4462:0.1418:0.4121	rs2326391;rs17855998	207;203	Q14694-3;Q14694	.;UBP10_HUMAN	P	203	ENSP00000219473:S203P	ENSP00000219473:S203P	S	+	1	0	USP10	83336195	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-0.193000	0.09573	-0.758000	0.04690	0.402000	0.26972	TCA	T|0.774;C|0.226	0.226	strong		0.547	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			C	84778694	T	C	84778694	3	2	22	1	0	0	0	0	1	0	0	0	17038	1667	58	2	621	2	USP10	16	84778694	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4	84778694	5576059	8415	13523	281	2								
ZDHHC7	55625	hgsc.bcm.edu	37	chr16	85011548	85011548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagtccactgccctcggaCacaggagatgaactgaaatc	9	13	0	3	rs13334011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:85011548C>T	ENST00000313732.4	-	6	953	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.V238I|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	201			V -> I (in dbSNP:rs13334011).		peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						TGCCCTCGGACACAGGAGATG	0.443													C|||	134	0.0267572	0.0968	0.0086	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0				p.V238I		Atlas-SNP	.											.	ZDHHC7	55	.	0			c.G712A						PASS	.	C	ILE/VAL,ILE/VAL	332,4066	175.1+/-204.6	13,306,1880	138	130	133		712,601	5.2	1	16	dbSNP_121	133	7,8593	5.0+/-18.6	0,7,4293	yes	missense,missense	ZDHHC7	NM_001145548.1,NM_017740.2	29,29	13,313,6173	TT,TC,CC		0.0814,7.5489,2.6081	benign,benign	238/346,201/309	85011548	339,12659	2199	4300	6499	SO:0001583	missense	55625	exon7			CTCGGACACAGGA	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.601G>A	16.37:g.85011548C>T	ENSP00000315604:p.Val201Ile	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	187	91	0.486631	NM_001145548	D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	CCDS10950.1	52	0.023809523809523808	50	0.1016260162601626	2	0.0055248618784530384	0	0.0	0	0.0	C	11.97	1.796547	0.31777	0.075489	8.14E-4	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.39229	1.09;1.09	5.21	5.21	0.72293	.	0.056982	0.64402	D	0.000001	T	0.00845	0.0028	N	0.17631	0.505	0.58432	D	0.999999	B;B	0.12630	0.006;0.004	B;B	0.17979	0.02;0.02	T	0.01652	-1.1303	10	0.26408	T	0.33	-23.2644	17.7601	0.88462	0.0:1.0:0.0:0.0	rs13334011;rs56605352;rs13334011	238;201	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	I	201;238	ENSP00000315604:V201I;ENSP00000341681:V238I	ENSP00000315604:V201I	V	-	1	0	ZDHHC7	83569049	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	3.515000	0.53429	2.428000	0.82296	0.561000	0.74099	GTC	C|0.962;T|0.038	0.038	strong		0.443	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		T	85011548	C	T	85011548	3	4	22	1	0	0	0	0	1	0	0	0	17617	478	17	2	337	2	ZDHHC7	16	85011548	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	232854	85011548	5343205	8416	13524										
KIAA0182	23199	hgsc.bcm.edu	37	chr16	85690900	85690900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagaagctgaaggatgccGgcctgcaggcgcccaagccc	14	14	0	2	rs35446008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:85690900G>A	ENST00000253458.7	+	8	1506	c.1330G>A	c.(1330-1332)Ggc>Agc	p.G444S	GSE1_ENST00000405402.2_Missense_Mutation_p.G340S|GSE1_ENST00000393243.1_Missense_Mutation_p.G371S|RN7SL381P_ENST00000577658.1_RNA	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	444				G -> S (in Ref. 1; BAA11499). {ECO:0000305}.													GAAGGATGCCGGCCTGCAGGC	0.642													G|||	67	0.0133786	0.0484	0.0043	5008	,	,		16388	0.0		0.0	False		,,,				2504	0.0				p.G444S		Atlas-SNP	.											.	.	.	.	0			c.G1330A						PASS	.	G	SER/GLY,SER/GLY	180,4216	110.4+/-148.6	4,172,2022	51	51	51		1018,1330	4	0.9	16	dbSNP_126	51	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	KIAA0182	NM_001134473.1,NM_014615.2	56,56	4,173,6320	AA,AG,GG		0.0116,4.0946,1.393	benign,benign	340/1114,444/1218	85690900	181,12813	2198	4299	6497	SO:0001583	missense	23199	exon8			GATGCCGGCCTGC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1330G>A	16.37:g.85690900G>A	ENSP00000253458:p.Gly444Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_014615	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	CCDS10952.1	23	0.010531135531135532	22	0.044715447154471545	1	0.0027624309392265192	0	0.0	0	0.0	G	8.046	0.765024	0.15914	0.040946	1.16E-4	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.30981	1.51;1.51;1.51	5.07	4.04	0.47022	.	0.488693	0.24152	N	0.041074	T	0.02083	0.0065	N	0.01705	-0.755	0.22457	N	0.999083	B;B	0.32203	0.325;0.36	B;B	0.21151	0.033;0.027	T	0.14227	-1.0480	10	0.18276	T	0.48	-34.1225	12.2615	0.54652	0.0:0.0:0.702:0.298	rs35446008	371;444	Q14687-3;Q14687	.;GSE1_HUMAN	S	340;444;371	ENSP00000384839:G340S;ENSP00000253458:G444S;ENSP00000376934:G371S	ENSP00000253458:G444S	G	+	1	0	KIAA0182	84248401	0.732000	0.28121	0.941000	0.38009	0.471000	0.32888	1.422000	0.34826	2.367000	0.80283	0.561000	0.74099	GGC	G|0.985;A|0.015	0.015	strong		0.642	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		A	85690900	G	A	85690900	3	1	22	1	0	0	0	0	1	0	0	0	8159	1116	39	1	1360	1	KIAA0182	16	85690900	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	679352	85690900	4663853	8417	13525										
KIAA0182	23199	hgsc.bcm.edu	37	chr16	85695298	85695298	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctacatctatgatgagttCctgcagcagcgccggaggct	12	12	1	2	rs61737039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:85695298C>T	ENST00000253458.7	+	9	2363	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	GSE1_ENST00000393243.1_Silent_p.F656F|GSE1_ENST00000405402.2_Silent_p.F625F|RN7SL381P_ENST00000577658.1_RNA	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	729																	ATGATGAGTTCCTGCAGCAGC	0.716													C|||	66	0.0131789	0.0469	0.0043	5008	,	,		14613	0.0		0.001	False		,,,				2504	0.0				p.F729F		Atlas-SNP	.											.	.	.	.	0			c.C2187T						PASS	.	C	,	139,4221		2,135,2043	11	14	13		1875,2187	-1.5	1	16	dbSNP_129	13	3,8533		0,3,4265	no	coding-synonymous,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	2,138,6308	TT,TC,CC		0.0351,3.1881,1.1011	,	625/1114,729/1218	85695298	142,12754	2180	4268	6448	SO:0001819	synonymous_variant	23199	exon9			TGAGTTCCTGCAG	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2187C>T	16.37:g.85695298C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_014615	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	C	5.452	0.268528	0.10349	0.031881	3.51E-4	ENSG00000131149	ENST00000412692	.	.	.	4.88	-1.45	0.08828	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-10.3922	10.1383	0.42719	0.0:0.4732:0.0:0.5268	rs61737039	.	.	.	F	536	.	.	S	+	2	0	KIAA0182	84252799	0.988000	0.35896	0.990000	0.47175	0.473000	0.32948	0.303000	0.19210	-0.171000	0.10797	-0.291000	0.09656	TCC	C|0.988;T|0.012	0.012	strong		0.716	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		T	85695298	C	T	85695298	2	4	22	1	0	0	0	0	0	0	0	1	8159	854	30	2		2	KIAA0182	16	85695298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4398	85695298	4659455	8418	13526										
GINS2	51659	hgsc.bcm.edu	37	chr16	85722496	85722496	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaggaattcgacctcggcAgcgtccatggcggcgcgagc	16	13	0	0	rs80063963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:85722496A>C	ENST00000253462.3	-	1	109	c.9T>G	c.(7-9)gcT>gcG	p.A3A	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	3					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CGACCTCGGCAGCGTCCATGG	0.677													C|||	648	0.129393	0.444	0.0389	5008	,	,		8688	0.0317		0.001	False		,,,				2504	0.001				p.A3A		Atlas-SNP	.											.	GINS2	15	.	0			c.T9G						PASS	.	C		1403,2863		218,967,948	22	18	19		9	-7.3	0	16	dbSNP_131	19	14,8328		0,14,4157	no	coding-synonymous	GINS2	NM_016095.2		218,981,5105	CC,CA,AA		0.1678,32.888,11.2389		3/186	85722496	1417,11191	2133	4171	6304	SO:0001819	synonymous_variant	51659	exon1			CTCGGCAGCGTCC	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.9T>G	16.37:g.85722496A>C		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_016095	D3DUM5|Q6IAG9	Silent	SNP	ENST00000253462.3	37	CCDS10953.1																																																																																			A|0.865;C|0.135	0.135	strong		0.677	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		C	85722496	A	C	85722496	2	2	22	1	0	0	0	0	0	0	0	1	6388	175	7	5		5	GINS2	16	85722496	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27198	85722496	4632257	8419	13527										
ZCCHC14	23174	hgsc.bcm.edu	37	chr16	87451273	87451273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgaggcaagggggcggcGgagccggccgggtgctgccc	21	12	0	1	rs56283442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:87451273G>T	ENST00000268616.4	-	8	982	c.765C>A	c.(763-765)tcC>tcA	p.S255S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	255							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGGGGGCGGCGGAGCCGGCCG	0.697													T|||	746	0.148962	0.5053	0.0533	5008	,	,		15812	0.0		0.0358	False		,,,				2504	0.0051				p.S255S		Atlas-SNP	.											.	ZCCHC14	87	.	0			c.C765A						PASS	.	T		1774,2622	627.4+/-394.9	360,1054,784	43	51	49		765	-11.1	0	16	dbSNP_129	49	220,8378	798.3+/-407.4	1,218,4080	no	coding-synonymous	ZCCHC14	NM_015144.2		361,1272,4864	TT,TG,GG		2.5587,40.3549,15.3455		255/950	87451273	1994,11000	2198	4299	6497	SO:0001819	synonymous_variant	23174	exon8			GGCGGCGGAGCCG	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.765C>A	16.37:g.87451273G>T		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	26	17	0.653846	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	CCDS10961.1																																																																																			G|0.859;T|0.141	0.141	strong		0.697	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		T	87451273	G	T	87451273	2	4	22	1	0	0	0	0	0	0	0	1	17580	1103	39	4		4	ZCCHC14	16	87451273	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1728777	87451273	2903480	8420	13528										
JPH3	57338	hgsc.bcm.edu	37	chr16	87717863	87717863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccccttccttccagcacCgggaaaacggtgagtctcgc	9	16	2	1	rs138328691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:87717863C>T	ENST00000284262.2	+	3	1518	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	426					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTTCCAGCACCGGGAAAACGG	0.647																																					p.R426W		Atlas-SNP	.											JPH3,NS,carcinoma,-2,1	JPH3	95	1	0			c.C1276T						PASS	.	C	TRP/ARG	4,4392	6.2+/-15.9	0,4,2194	73	60	64		1276	-4.8	0.9	16	dbSNP_134	64	0,8600		0,0,4300	yes	missense	JPH3	NM_020655.2	101	0,4,6494	TT,TC,CC		0.0,0.091,0.0308	probably-damaging	426/749	87717863	4,12992	2198	4300	6498	SO:0001583	missense	57338	exon3			CAGCACCGGGAAA	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1276C>T	16.37:g.87717863C>T	ENSP00000284262:p.Arg426Trp	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	218	121	0.555046	NM_020655	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641510	0.67244	9.1E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.49720	0.77	4.64	-4.8	0.03190	.	0.326711	0.28371	N	0.015584	T	0.51517	0.1679	L	0.50333	1.59	0.43617	D	0.995991	D	0.76494	0.999	P	0.55871	0.786	T	0.57797	-0.7749	10	0.56958	D	0.05	.	16.5936	0.84789	0.5065:0.4935:0.0:0.0	.	426	Q8WXH2	JPH3_HUMAN	W	289;426	ENSP00000284262:R426W	ENSP00000284262:R426W	R	+	1	2	JPH3	86275364	0.404000	0.25328	0.947000	0.38551	0.966000	0.64601	-0.364000	0.07583	-1.153000	0.02829	-0.181000	0.13052	CGG	C|0.999;T|0.001	0.001	strong		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			T	87717863	C	T	87717863	3	4	22	1	0	0	0	0	1	0	0	0	7962	643	23	1	1286	1	JPH3	16	87717863	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	266590	87717863	2636890	8421	13529										
KLHDC4	54758	hgsc.bcm.edu	37	chr16	87743072	87743072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcctcaaggctgtcttCgtcctcagaccggggctgcc	12	16	3	1	rs61735154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:87743072C>T	ENST00000270583.5	-	10	1304	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.E385K|KLHDC4_ENST00000353170.5_Missense_Mutation_p.E359K	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	416										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGCTGTCTTCGTCCTCAGAC	0.677													C|||	101	0.0201677	0.0726	0.0072	5008	,	,		12720	0.0		0.0	False		,,,				2504	0.0				p.E416K		Atlas-SNP	.											.	KLHDC4	45	.	0			c.G1246A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU	239,4155	133.7+/-170.0	4,231,1962	37	39	38		1075,1153,1246	5.3	0.2	16	dbSNP_129	38	0,8598		0,0,4299	no	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	56,56,56	4,231,6261	TT,TC,CC		0.0,5.4392,1.8396	benign,benign,benign	359/464,385/490,416/521	87743072	239,12753	2197	4299	6496	SO:0001583	missense	54758	exon10			TGTCTTCGTCCTC	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1246G>A	16.37:g.87743072C>T	ENSP00000270583:p.Glu416Lys	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_017566	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	CCDS10963.1	41	0.018772893772893772	36	0.07317073170731707	5	0.013812154696132596	0	0.0	0	0.0	C	14.89	2.668986	0.47677	0.054392	0.0	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.08807	3.83;3.05;3.59	5.27	5.27	0.74061	.	0.518149	0.21288	N	0.077021	T	0.00936	0.0031	M	0.69823	2.125	0.80722	D	1	B;D;D	0.57571	0.145;0.98;0.967	B;P;B	0.45449	0.04;0.481;0.229	T	0.27088	-1.0084	10	0.06757	T	0.87	-0.0563	17.8669	0.88797	0.0:1.0:0.0:0.0	.	359;385;416	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	K	416;385;359	ENSP00000270583:E416K;ENSP00000325717:E385K;ENSP00000262530:E359K	ENSP00000270583:E416K	E	-	1	0	KLHDC4	86300573	1.000000	0.71417	0.217000	0.23759	0.110000	0.19582	5.604000	0.67626	2.467000	0.83353	0.313000	0.20887	GAA	C|0.978;T|0.022	0.022	strong		0.677	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		T	87743072	C	T	87743072	3	4	22	1	0	0	0	0	1	0	0	0	8358	893	31	1	324	1	KLHDC4	16	87743072	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25209	87743072	2611681	8422	13530										
SLC7A5	8140	hgsc.bcm.edu	37	chr16	87902684	87902684	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcatgtaggcgtagtcGccgcccgatttggagatggt	14	10	0	1	rs17853938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:87902684G>T	ENST00000261622.4	-	1	410	c.345C>A	c.(343-345)ggC>ggA	p.G115G		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	115					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	AGGCGTAGTCGCCGCCCGATT	0.662													G|||	755	0.150759	0.3941	0.0692	5008	,	,		15492	0.005		0.0994	False		,,,				2504	0.0828				p.G115G		Atlas-SNP	.											.	SLC7A5	28	.	0			c.C345A						PASS	.	G		1558,2836	465.5+/-354.2	268,1022,907	38	35	36		345	1.2	1	16	dbSNP_123	36	954,7644	200.7+/-244.4	64,826,3409	no	coding-synonymous	SLC7A5	NM_003486.5		332,1848,4316	TT,TG,GG		11.0956,35.4574,19.335		115/508	87902684	2512,10480	2197	4299	6496	SO:0001819	synonymous_variant	8140	exon1			GTAGTCGCCGCCC	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.345C>A	16.37:g.87902684G>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	110	62	0.563636	NM_003486	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																			G|0.835;T|0.165	0.165	strong		0.662	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		T	87902684	G	T	87902684	2	4	22	1	0	0	0	0	0	0	0	1	14700	1074	38	4		4	SLC7A5	16	87902684	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159612	87902684	2452069	8423	13531										
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599023	88599023	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcgccctgtgttccaggAgagcggcccttcgtgtgcct	13	14	0	1	rs56041036	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88599023A>G	ENST00000319555.3	+	8	1270	c.948A>G	c.(946-948)ggA>ggG	p.G316G	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	316					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTGTTCCAGGAGAGCGGCCCT	0.662													a|||	741	0.147963	0.0741	0.1484	5008	,	,		16600	0.3591		0.0974	False		,,,				2504	0.0818				p.G316G	Pancreas(49;850 1106 29641 32847 38344)	Atlas-SNP	.											ZFPM1,NS,carcinoma,0,1	ZFPM1	32	1	0			c.A948G						PASS	.	A		345,4013		17,311,1851	29	27	28		948	0.6	1	16	dbSNP_129	28	652,7914		21,610,3652	yes	coding-synonymous-near-splice	ZFPM1	NM_153813.2		38,921,5503	GG,GA,AA		7.6115,7.9165,7.7143		316/1007	88599023	997,11927	2179	4283	6462	SO:0001630	splice_region_variant	161882	exon8			TCCAGGAGAGCGG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.947-1A>G	16.37:g.88599023A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	168	76	0.452381	NM_153813		Silent	SNP	ENST00000319555.3	37	CCDS32502.1																																																																																			A|0.879;G|0.121	0.121	strong		0.662	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		Silent	G	88599023	A	G	88599023	5	3	22	1	0	0	0	0	0	0	1	0	17654	318	11	3	978	3	ZFPM1	16	88599023	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	696339	88599023	1755730	8424	13532										
ZC3H18	124245	hgsc.bcm.edu	37	chr16	88643806	88643806	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgagctgagccggggccCgaccagctccccctgcgagg	15	15	0	2	rs114866066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88643806C>G	ENST00000301011.5	+	2	475	c.275C>G	c.(274-276)cCg>cGg	p.P92R	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P92R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	92						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCGGGGCCCGACCAGCTCC	0.622													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0				p.P92R	Ovarian(121;375 2276 20373 38669)	Atlas-SNP	.											.	ZC3H18	90	.	0			c.C275G						PASS	.	C	ARG/PRO	22,4372	27.2+/-55.0	0,22,2175	29	33	32		275	3.4	0.8	16	dbSNP_132	32	0,8600		0,0,4300	yes	missense	ZC3H18	NM_144604.3	103	0,22,6475	GG,GC,CC		0.0,0.5007,0.1693	benign	92/954	88643806	22,12972	2197	4300	6497	SO:0001583	missense	124245	exon2			GGGGCCCGACCAG	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.275C>G	16.37:g.88643806C>G	ENSP00000301011:p.Pro92Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	31	18	0.580645	NM_144604	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.042	0.376025	0.11466	0.005007	0.0	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.30448	1.53;1.56	5.57	3.36	0.38483	.	0.366727	0.28908	N	0.013743	T	0.13243	0.0321	L	0.36672	1.1	0.09310	N	1	B;B	0.27416	0.178;0.178	B;B	0.28916	0.096;0.096	T	0.11179	-1.0598	10	0.18276	T	0.48	-21.7543	2.9583	0.05884	0.5017:0.3387:0.0:0.1595	.	92;92	E7ERS3;Q86VM9	.;ZCH18_HUMAN	R	92	ENSP00000301011:P92R;ENSP00000416951:P92R	ENSP00000289509:P92R	P	+	2	0	ZC3H18	87171307	0.247000	0.23920	0.778000	0.31720	0.046000	0.14306	0.728000	0.26013	1.310000	0.45006	0.561000	0.74099	CCG	C|0.999;G|0.001	0.001	strong		0.622	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		G	88643806	C	G	88643806	3	3	22	1	0	0	0	0	1	0	0	0	17565	652	23	4	277	4	ZC3H18	16	88643806	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44783	88643806	1710947	8425	13533										
CYBA	1535	hgsc.bcm.edu	37	chr16	88713213	88713213	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctggtaaagggcccgaaCagcttcaccacggcggtcat	11	13	2	0	rs2228472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88713213C>G	ENST00000261623.3	-	4	375	c.237G>C	c.(235-237)ctG>ctC	p.L79L	CYBA_ENST00000567174.1_Silent_p.L79L|CYBA_ENST00000569359.1_Silent_p.L79L|CYBA_ENST00000561972.1_5'Flank	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	79					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)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	AGGGCCCGAACAGCTTCACCA	0.652													C|||	227	0.0453275	0.1672	0.0086	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0				p.L79L		Atlas-SNP	.											.	CYBA	12	.	0			c.G237C						PASS	.	C		627,3769	269.8+/-269.2	48,531,1619	81	91	87		237	0.7	0.3	16	dbSNP_98	87	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CYBA	NM_000101.2		48,536,5914	GG,GC,CC		0.0581,14.263,4.863		79/196	88713213	632,12364	2198	4300	6498	SO:0001819	synonymous_variant	1535	exon4			CCCGAACAGCTTC		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"Cytochrome b genes"	2577	protein-coding gene	gene with protein product	"flavocytochrome b-558 alpha polypeptide"	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.237G>C	16.37:g.88713213C>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	67	36	0.537313	NM_000101	Q14090|Q9BR72	Silent	SNP	ENST00000261623.3	37	CCDS32504.1																																																																																			C|0.949;G|0.051	0.051	strong		0.652	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		G	88713213	C	G	88713213	2	3	22	1	0	0	0	0	0	0	0	1	4131	465	17	4		4	CYBA	16	88713213	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69407	88713213	1641540	8426	13534										
CTU2	9780	hgsc.bcm.edu	37	chr16	88779739	88779739	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacccacctgatcctccacAtggcccgagcccacggctac	9	19	0	1	rs11549837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88779739A>G	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Missense_Mutation_p.M166V|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000453996.2_Missense_Mutation_p.M253V|CTU2_ENST00000312060.5_Missense_Mutation_p.M253V|CTU2_ENST00000567949.1_Missense_Mutation_p.M324V	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GATCCTCCACATGGCCCGAGC	0.652													A|||	2267	0.452676	0.4372	0.4308	5008	,	,		12324	0.6637		0.3439	False		,,,				2504	0.3834				p.M253V		Atlas-SNP	.											.	CTU2	66	.	0			c.A757G						PASS	.	A	VAL/MET,VAL/MET	1823,2551	528.6+/-372.4	375,1073,739	55	56	55		757,757	1.5	1	16	dbSNP_120	55	2924,5664	454.5+/-363.5	500,1924,1870	yes	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	21,21	875,2997,2609	GG,GA,AA		34.0475,41.6781,36.6224	benign,benign	253/516,253/486	88779739	4747,8215	2187	4294	6481	SO:0001628	intergenic_variant	348180	exon8			CTCCACATGGCCC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779739A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	988	0.4523809523809524	189	0.38414634146341464	145	0.4005524861878453	375	0.6555944055944056	279	0.36807387862796836	A	0.119	-1.128461	0.01756	0.416781	0.340475	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.14766	2.48;2.48;2.48	5.04	1.54	0.23209	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.534670	0.19256	N	0.118787	T	0.00012	0.0000	N	0.00101	-2.135	0.46927	P	7.420000000000204E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27157	-1.0082	9	0.09843	T	0.71	.	4.674	0.12703	0.2557:0.0:0.5924:0.1518	rs11549837;rs59473378	166;253;253	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	V	166;253;253	ENSP00000367635:M166V;ENSP00000308617:M253V;ENSP00000388320:M253V	ENSP00000308617:M253V	M	+	1	0	CTU2	87307240	0.000000	0.05858	0.986000	0.45419	0.760000	0.43138	0.845000	0.27668	0.492000	0.27815	-0.177000	0.13119	ATG	A|0.607;G|0.393	0.393	strong		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		G	88779739	A	G	88779739	1	3	22	0	1	0	0	0	0	0	0	0	4048	217	8	2		2	CTU2	16	88779739	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	66526	88779739	1575014	8427	13535										
CTU2	9780	hgsc.bcm.edu	37	chr16	88780603	88780603	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatcctcaggctgcagacCcagttcccctccactgtcag	7	17	3	1	rs73262673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88780603C>G	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Silent_p.T268T|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000453996.2_Silent_p.T355T|CTU2_ENST00000312060.5_Silent_p.T355T|CTU2_ENST00000567949.1_Silent_p.T426T	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGCTGCAGACCCAGTTCCCCT	0.632													C|||	245	0.0489217	0.177	0.0159	5008	,	,		16241	0.0		0.0	False		,,,				2504	0.0				p.T355T		Atlas-SNP	.											.	CTU2	66	.	0			c.C1065G						PASS	.	C	,	604,3774	262.8+/-265.1	38,528,1623	84	76	79		1065,1065	0.1	1	16	dbSNP_130	79	5,8587	4.3+/-15.6	0,5,4291	no	coding-synonymous,coding-synonymous	CTU2	NM_001012759.1,NM_001012762.1	,	38,533,5914	GG,GC,CC		0.0582,13.7963,4.6955	,	355/516,355/486	88780603	609,12361	2189	4296	6485	SO:0001628	intergenic_variant	348180	exon10			GCAGACCCAGTTC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780603C>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	93	41	0.44086	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	CCDS54058.1																																																																																			C|0.960;G|0.040	0.040	strong		0.632	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		G	88780603	C	G	88780603	1	3	22	0	1	0	0	0	0	0	0	0	4048	610	22	4		4	CTU2	16	88780603	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	864	88780603	1574150	8428	13536										
CTU2	9780	hgsc.bcm.edu	37	chr16	88781040	88781040	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctcctcgcgtctctcccAgatgcagtcacccatccccc	6	21	2	1	rs8059048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88781040A>G	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Missense_Mutation_p.Q329R|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000453996.2_Missense_Mutation_p.Q416R|CTU2_ENST00000312060.5_Missense_Mutation_p.Q416R|CTU2_ENST00000567949.1_Missense_Mutation_p.Q487R	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CGTCTCTCCCAGATGCAGTCA	0.697													A|||	1612	0.321885	0.1793	0.3746	5008	,	,		14539	0.6647		0.1958	False		,,,				2504	0.2536				p.Q416R		Atlas-SNP	.											CTU2_ENST00000453996,NS,carcinoma,0,4	CTU2	66	4	0			c.A1247G						PASS	.	A	ARG/GLN,ARG/GLN	890,3492	338.6+/-305.4	104,682,1405	45	46	45		1247,1247	1.9	0.1	16	dbSNP_116	45	1636,6956	299.7+/-304.6	171,1294,2831	yes	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	43,43	275,1976,4236	GG,GA,AA		19.041,20.3104,19.4697	benign,benign	416/516,416/486	88781040	2526,10448	2191	4296	6487	SO:0001628	intergenic_variant	348180	exon12			TCTCCCAGATGCA	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88781040A>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	166	76	0.457831	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	734	0.3360805860805861	84	0.17073170731707318	126	0.34806629834254144	375	0.6555944055944056	149	0.19656992084432717	A	10.10	1.258563	0.23051	0.203104	0.19041	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.52754	0.65;0.65;0.65	4.32	1.86	0.25419	.	0.070349	0.64402	D	0.000019	T	0.00012	0.0000	L	0.52573	1.65	0.58432	P	4.000000000004E-6	B;B;B	0.15473	0.013;0.01;0.012	B;B;B	0.18263	0.013;0.021;0.009	T	0.35475	-0.9787	9	0.39692	T	0.17	.	4.6795	0.12727	0.4951:0.1719:0.0:0.333	rs8059048;rs60525594;rs8059048	329;416;416	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	R	329;416;416	ENSP00000367635:Q329R;ENSP00000308617:Q416R;ENSP00000388320:Q416R	ENSP00000308617:Q416R	Q	+	2	0	CTU2	87308541	0.004000	0.15560	0.077000	0.20336	0.048000	0.14542	-0.277000	0.08502	0.108000	0.17862	0.379000	0.24179	CAG	A|0.751;G|0.249	0.249	strong		0.697	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		G	88781040	A	G	88781040	1	3	22	0	1	0	0	0	0	0	0	0	4048	188	7	3		3	CTU2	16	88781040	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	437	88781040	1573713	8429	13537										
CDT1	81620	hgsc.bcm.edu	37	chr16	88871908	88871908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagcccggcctgccgggActcgtgctgccctacaagta	12	17	0	0	rs1834065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88871908A>G	ENST00000301019.4	+	4	1168	c.549A>G	c.(547-549)ggA>ggG	p.G183G		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GCCTGCCGGGACTCGTGCTGC	0.662													G|||	683	0.136382	0.351	0.0821	5008	,	,		15455	0.003		0.0567	False		,,,				2504	0.1043				p.G183G	Melanoma(159;511 3380 30971)	Atlas-SNP	.											.	CDT1	30	.	0			c.A549G						PASS	.	G		1370,3026	663.6+/-401.2	221,928,1049	43	49	47		549	1.5	0.4	16	dbSNP_92	47	614,7982	778.8+/-407.7	16,582,3700	no	coding-synonymous	CDT1	NM_030928.3		237,1510,4749	GG,GA,AA		7.1429,31.1647,15.2709		183/547	88871908	1984,11008	2198	4298	6496	SO:0001819	synonymous_variant	81620	exon4			GCCGGGACTCGTG	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.549A>G	16.37:g.88871908A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	81	80	0.987654	NM_030928		Silent	SNP	ENST00000301019.4	37	CCDS32510.1																																																																																			A|0.864;G|0.136	0.136	strong		0.662	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		G	88871908	A	G	88871908	2	3	22	1	0	0	0	0	0	0	0	1	3180	262	10	2		2	CDT1	16	88871908	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	90868	88871908	1482845	8430	13538										
CDT1	81620	hgsc.bcm.edu	37	chr16	88872229	88872229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccaccttcaaggatggcAccaggaggtcagattaccag	10	13	2	1	rs480727	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88872229A>G	ENST00000301019.4	+	5	1403	c.784A>G	c.(784-786)Acc>Gcc	p.T262A		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CAAGGATGGCACCAGGAGGTC	0.597													G|||	2861	0.571286	0.7526	0.5043	5008	,	,		15961	0.7024		0.3897	False		,,,				2504	0.4254				p.T262A	Melanoma(159;511 3380 30971)	Atlas-SNP	.											.	CDT1	30	.	0			c.A784G						PASS	.	G	ALA/THR	3130,1260	420.8+/-339.2	1114,902,179	42	44	44		784	-1.3	0	16	dbSNP_83	44	3304,5292	638.8+/-399.4	620,2064,1614	yes	missense	CDT1	NM_030928.3	58	1734,2966,1793	GG,GA,AA		38.4365,28.7016,49.5457	benign	262/547	88872229	6434,6552	2195	4298	6493	SO:0001583	missense	81620	exon5			GATGGCACCAGGA	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.784A>G	16.37:g.88872229A>G	ENSP00000301019:p.Thr262Ala	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_030928		Missense_Mutation	SNP	ENST00000301019.4	37	CCDS32510.1	1239	0.5673076923076923	362	0.7357723577235772	171	0.4723756906077348	416	0.7272727272727273	290	0.38258575197889183	G	0.050	-1.252044	0.01469	0.712984	0.384365	ENSG00000167513	ENST00000301019	T	0.24723	1.84	4.83	-1.33	0.09172	.	0.865536	0.10187	N	0.705131	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.12156	0.007	T	0.28490	-1.0042	9	0.16420	T	0.52	.	5.5378	0.17021	0.3888:0.0:0.4893:0.1219	rs480727;rs3169256;rs60443747;rs480727	262	Q9H211	CDT1_HUMAN	A	262	ENSP00000301019:T262A	ENSP00000301019:T262A	T	+	1	0	CDT1	87399730	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.763000	0.04740	-0.900000	0.03896	-0.355000	0.07637	ACC	A|0.452;G|0.548	0.548	strong		0.597	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		G	88872229	A	G	88872229	3	3	22	1	0	0	0	0	1	0	0	0	3180	159	6	2	802	2	CDT1	16	88872229	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	321	88872229	1482524	8431	13539										
CDT1	353	hgsc.bcm.edu	37	chr16	88874545	88874545	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaatggagaagcacctgctGctcctctccgagctgctgcc	11	14	1	1	rs3218720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88874545G>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Silent_p.L500L	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	AGCACCTGCTGCTCCTCTCCG	0.662													G|||	217	0.0433307	0.1581	0.0115	5008	,	,		18032	0.0		0.0	False		,,,				2504	0.0				p.L500L		Atlas-SNP	.											.	CDT1	30	.	0			c.G1500T						PASS	.	G		651,3741		50,551,1595	42	31	35		1500	2.8	0.1	16	dbSNP_106	35	6,8592		0,6,4293	no	coding-synonymous	CDT1	NM_030928.3		50,557,5888	TT,TG,GG		0.0698,14.8224,5.0577		500/547	88874545	657,12333	2196	4299	6495	SO:0001628	intergenic_variant	81620	exon10			CCTGCTGCTCCTC		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88874545G>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	121	118	0.975207	NM_030928	G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	CCDS32511.1																																																																																			G|0.953;T|0.047	0.047	strong		0.662	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		T	88874545	G	T	88874545	1	4	22	0	1	0	0	0	0	0	0	0	3180	1306	46	4		4	CDT1	16	88874545	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2316	88874545	1480208	8432	13540										
CDT1	353	hgsc.bcm.edu	37	chr16	88874632	88874632	+	IGR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggacaaggccgcggacctCgcccacatcactgcacgcct	10	18	1	0	rs572275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88874632C>G	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Silent_p.L529L	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCGCGGACCTCGCCCACATCA	0.667													G|||	2768	0.552716	0.7489	0.4942	5008	,	,		17709	0.6637		0.3767	False		,,,				2504	0.3957				p.L529L		Atlas-SNP	.											.	CDT1	30	.	0			c.C1587G						PASS	.	G		3098,1278	405.1+/-333.4	1101,896,191	46	36	40		1587	1	0	16	dbSNP_83	40	3170,5426	623.9+/-397.5	577,2016,1705	no	coding-synonymous	CDT1	NM_030928.3		1678,2912,1896	GG,GC,CC		36.8776,29.2048,48.3195		529/547	88874632	6268,6704	2188	4298	6486	SO:0001628	intergenic_variant	81620	exon10			GGACCTCGCCCAC		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88874632C>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_030928	G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	CCDS32511.1																																																																																			C|0.482;G|0.518	0.518	strong		0.667	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		G	88874632	C	G	88874632	1	3	22	0	1	0	0	0	0	0	0	0	3180	871	31	4		4	CDT1	16	88874632	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87	88874632	1480121	8433	13541										
PABPN1L	390748	hgsc.bcm.edu	37	chr16	88931509	88931509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggctgaagtgggcctccaGctcctcggcggagcccccgt	15	16	0	1	rs76746996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88931509G>A	ENST00000419291.2	-	4	498	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	PABPN1L_ENST00000411789.2_Silent_p.L163L|PABPN1L_ENST00000378358.4_Silent_p.L163L|PABPN1L_ENST00000427766.1_Intron	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	163	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						TGGGCCTCCAGCTCCTCGGCG	0.657													g|||	302	0.0603035	0.174	0.0274	5008	,	,		13404	0.0198		0.0239	False		,,,				2504	0.0092				p.L163L		Atlas-SNP	.											.	PABPN1L	25	.	0			c.C487T						PASS	.	G		492,3414		29,434,1490	12	15	14		487	2.4	1	16	dbSNP_132	14	190,8058		1,188,3935	no	coding-synonymous	PABPN1L	NM_001080487.2		30,622,5425	AA,AG,GG		2.3036,12.596,5.6113		163/279	88931509	682,11472	1953	4124	6077	SO:0001819	synonymous_variant	390748	exon4			CCTCCAGCTCCTC		CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.487C>T	16.37:g.88931509G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_001080487	A1L3B3|A2VDI2	Silent	SNP	ENST00000419291.2	37	CCDS45547.2																																																																																			G|0.953;A|0.047	0.047	strong		0.657	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487		A	88931509	G	A	88931509	2	1	22	1	0	0	0	0	0	0	0	1	11369	962	34	2		2	PABPN1L	16	88931509	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56877	88931509	1423244	8434	13542										
CBFA2T3	863	hgsc.bcm.edu	37	chr16	88968048	88968048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatcgctgaggccttagcTttcctgtccactggggctgc	13	13	0	1	rs76033980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:88968048T>C	ENST00000268679.4	-	2	564	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_5'UTR|CBFA2T3_ENST00000436887.2_Silent_p.K56K|CBFA2T3_ENST00000327483.5_5'UTR	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	56	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCCTTAGCTTTCCTGTCCA	0.672			T	RUNX1	AML								C|||	252	0.0503195	0.0991	0.0461	5008	,	,		14614	0.0218		0.0239	False		,,,				2504	0.044				p.K56K		Atlas-SNP	.		Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	.	CBFA2T3	47	.	0			c.A168G						PASS	.	C	,	416,3978	765.9+/-413.4	23,370,1804	33	37	36		168,	3	0.4	16	dbSNP_131	36	231,8369	798.7+/-407.4	3,225,4072	no	coding-synonymous,utr-5	CBFA2T3	NM_005187.5,NM_175931.2	,	26,595,5876	CC,CT,TT		2.686,9.4675,4.9792	,	56/654,	88968048	647,12347	2197	4300	6497	SO:0001819	synonymous_variant	863	exon2			CTTAGCTTTCCTG	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.168A>G	16.37:g.88968048T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	65	32	0.492308	NM_005187	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																			T|0.958;C|0.042	0.042	strong		0.672	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		C	88968048	T	C	88968048	2	2	22	1	0	0	0	0	0	0	0	1	2698	1606	56	3		3	CBFA2T3	16	88968048	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36539	88968048	1386705	8435	13543										
ZNF778	197320	hgsc.bcm.edu	37	chr16	89289624	89289624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaggaatggactttactGgacccatctcagagagacct	11	10	1	2	rs12920028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89289624G>A	ENST00000433976.2	+	4	509	c.177G>A	c.(175-177)ctG>ctA	p.L59L	ZNF778_ENST00000306502.6_5'UTR	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGACTTTACTGGACCCATCTC	0.532													G|||	577	0.115216	0.1846	0.0677	5008	,	,		21800	0.0972		0.0626	False		,,,				2504	0.1278				p.L59L		Atlas-SNP	.											.	ZNF778	67	.	0			c.G177A						PASS	.	G	,	791,3605	314.4+/-293.6	67,657,1474	139	138	138		177,177	1.6	0.3	16	dbSNP_121	138	545,8055	149.5+/-204.6	17,511,3772	no	coding-synonymous,coding-synonymous	ZNF778	NM_001201407.1,NM_182531.3	,	84,1168,5246	AA,AG,GG		6.3372,17.9936,10.2801	,	59/758,59/730	89289624	1336,11660	2198	4300	6498	SO:0001819	synonymous_variant	197320	exon4			TTTACTGGACCCA	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.177G>A	16.37:g.89289624G>A		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	181	83	0.458564	NM_182531	Q08AG0	Silent	SNP	ENST00000433976.2	37	CCDS45550.1																																																																																			G|0.901;A|0.099	0.099	strong		0.532	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		A	89289624	G	A	89289624	2	1	22	1	0	0	0	0	0	0	0	1	18148	1335	47	2		2	ZNF778	16	89289624	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	321576	89289624	1065129	8436	13544										
ZNF778	197320	hgsc.bcm.edu	37	chr16	89294595	89294595	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacatcctcacaccttatCgtgcacataagaacccacac	3	17	1	1	rs74466939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89294595C>T	ENST00000433976.2	+	6	2147	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.I563I	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	605					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)		CACACCTTATCGTGCACATAA	0.473													C|||	813	0.16234	0.1248	0.2651	5008	,	,		22985	0.1746		0.0815	False		,,,				2504	0.2106				p.I633I		Atlas-SNP	.											.	ZNF778	67	.	0			c.C1899T						PASS	.	C	,	557,3831	227.8+/-242.9	39,479,1676	92	96	95		1899,1815	-1.7	0	16	dbSNP_131	95	860,7738	190.1+/-236.7	45,770,3484	no	coding-synonymous,coding-synonymous	ZNF778	NM_001201407.1,NM_182531.3	,	84,1249,5160	TT,TC,CC		10.0023,12.6937,10.9118	,	633/758,605/730	89294595	1417,11569	2194	4299	6493	SO:0001819	synonymous_variant	197320	exon7			CCTTATCGTGCAC	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.1815C>T	16.37:g.89294595C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	89	33	0.370787	NM_001201407	Q08AG0	Silent	SNP	ENST00000433976.2	37	CCDS45550.1																																																																																			C|0.863;T|0.137	0.137	strong		0.473	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		T	89294595	C	T	89294595	2	4	22	1	0	0	0	0	0	0	0	1	18148	874	31	1		1	ZNF778	16	89294595	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4971	89294595	1060158	8437	13545										
SPG7	6687	hgsc.bcm.edu	37	chr16	89623301	89623301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgttctttctagctggcaAacgcccttctggaaaaggaa	9	11	3	0	rs35749032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89623301A>G	ENST00000268704.2	+	17	2203	c.2188A>G	c.(2188-2190)Aac>Gac	p.N730D	SPG7_ENST00000565891.1_3'UTR	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	730			N -> D (in dbSNP:rs35749032). {ECO:0000269|PubMed:16534102}.		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)		CTAGCTGGCAAACGCCCTTCT	0.562													A|||	85	0.0169728	0.062	0.0043	5008	,	,		19441	0.0		0.0	False		,,,				2504	0.0				p.N730D		Atlas-SNP	.											.	SPG7	75	.	0			c.A2188G						PASS	.	A	ASP/ASN	203,4193	123.3+/-160.7	7,189,2002	111	110	110		2188	4.5	0	16	dbSNP_126	110	1,8595		0,1,4297	yes	missense	SPG7	NM_003119.2	23	7,190,6299	GG,GA,AA		0.0116,4.6178,1.5702	benign	730/796	89623301	204,12788	2198	4298	6496	SO:0001583	missense	6687	exon17			CTGGCAAACGCCC	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.2188A>G	16.37:g.89623301A>G	ENSP00000268704:p.Asn730Asp	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	93	45	0.483871	NM_003119	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	30	0.013736263736263736	29	0.05894308943089431	1	0.0027624309392265192	0	0.0	0	0.0	A	7.955	0.745801	0.15710	0.046178	1.16E-4	ENSG00000197912	ENST00000268704	D	0.84370	-1.84	5.59	4.49	0.54785	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.304067	0.39687	N	0.001298	T	0.25121	0.0610	N	0.12746	0.255	0.36713	D	0.880754	B	0.06786	0.001	B	0.09377	0.004	T	0.55250	-0.8170	10	0.36615	T	0.2	-6.0E-4	10.7824	0.46386	0.9228:0.0:0.0772:0.0	rs35749032	730	Q9UQ90	SPG7_HUMAN	D	730	ENSP00000268704:N730D	ENSP00000268704:N730D	N	+	1	0	SPG7	88150802	0.057000	0.20700	0.002000	0.10522	0.321000	0.28281	1.649000	0.37281	0.925000	0.37094	0.460000	0.39030	AAC	A|0.982;G|0.018	0.018	strong		0.562	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		G	89623301	A	G	89623301	3	3	22	1	0	0	0	0	1	0	0	0	15043	14	1	2	2404	2	SPG7	16	89623301	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	328706	89623301	731452	8438	13546										
CPNE7	27132	hgsc.bcm.edu	37	chr16	89645345	89645345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggacactgcgctaagcaCttcctgtgctgcacggaatc	11	13	0	0	rs9944362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89645345C>A	ENST00000268720.5	+	3	568	c.438C>A	c.(436-438)caC>caA	p.H146Q	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	146					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GCGCTAAGCACTTCCTGTGCT	0.552													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		16713	0.0		0.0	False		,,,				2504	0.0				p.H146Q		Atlas-SNP	.											.	CPNE7	56	.	0			c.C438A						PASS	.	C	GLN/HIS,	41,4355	46.0+/-80.4	1,39,2158	133	112	119		438,	-0.7	0	16	dbSNP_119	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	CPNE7	NM_014427.4,NM_153636.2	24,	1,40,6457	AA,AC,CC		0.0116,0.9327,0.3232	,	146/634,	89645345	42,12954	2198	4300	6498	SO:0001583	missense	27132	exon3			TAAGCACTTCCTG	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.438C>A	16.37:g.89645345C>A	ENSP00000268720:p.His146Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	100	58	0.58	NM_014427		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	0.672	-0.801433	0.02841	0.009327	1.16E-4	ENSG00000178773	ENST00000268720	T	0.13089	2.62	0.471	-0.661	0.11417	C2 calcium/lipid-binding domain, CaLB (1);	432.516000	0.00520	U	0.000184	T	0.07324	0.0185	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21965	-1.0230	9	0.15066	T	0.55	.	.	.	.	rs9944362	146	Q9UBL6	CPNE7_HUMAN	Q	146	ENSP00000268720:H146Q	ENSP00000268720:H146Q	H	+	3	2	CPNE7	88172846	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	0.396000	0.20867	-0.368000	0.08040	0.205000	0.17691	CAC	C|0.998;A|0.002	0.002	strong		0.552	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89645345	C	A	89645345	3	1	22	1	0	0	0	0	1	0	0	0	3817	564	20	4	448	4	CPNE7	16	89645345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22044	89645345	709408	8439	13547										
CPNE7	27132	hgsc.bcm.edu	37	chr16	89645360	89645360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcacttcctgtgctgcacGgaatcctcacaccttgccag	8	15	1	0	rs149812493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89645360G>A	ENST00000268720.5	+	3	583	c.453G>A	c.(451-453)acG>acA	p.T151T	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	151					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGTGCTGCACGGAATCCTCAC	0.542													G|||	42	0.00838658	0.031	0.0014	5008	,	,		16677	0.0		0.0	False		,,,				2504	0.0				p.T151T		Atlas-SNP	.											.	CPNE7	56	.	0			c.G453A						PASS	.	G	,	132,4264	95.3+/-134.0	2,128,2068	115	98	104		453,	-0.3	0	16	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	CPNE7	NM_014427.4,NM_153636.2	,	2,129,6367	AA,AG,GG		0.0116,3.0027,1.0234	,	151/634,	89645360	133,12863	2198	4300	6498	SO:0001819	synonymous_variant	27132	exon3			CTGCACGGAATCC	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.453G>A	16.37:g.89645360G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_014427		Silent	SNP	ENST00000268720.5	37	CCDS10980.1																																																																																			G|0.988;A|0.012	0.012	strong		0.542	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89645360	G	A	89645360	2	1	22	1	0	0	0	0	0	0	0	1	3817	1103	39	1		1	CPNE7	16	89645360	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15	89645360	709393	8440	13548										
CPNE7	27132	hgsc.bcm.edu	37	chr16	89655120	89655120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcctccaatggagacccgcGgaacagctgctccctgcact	10	17	0	1	rs28568523	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89655120G>A	ENST00000268720.5	+	12	1320	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	CPNE7_ENST00000319518.8_Missense_Mutation_p.R322Q	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	397	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGAGACCCGCGGAACAGCTGC	0.647													G|||	28	0.00559105	0.0144	0.0	5008	,	,		15442	0.002		0.007	False		,,,				2504	0.0				p.R397Q		Atlas-SNP	.											.	CPNE7	56	.	0			c.G1190A						PASS	.	G	GLN/ARG,GLN/ARG	43,4353	46.7+/-81.2	0,43,2155	129	98	108		1190,965	3.8	0.8	16	dbSNP_125	108	51,8549	33.3+/-86.6	0,51,4249	yes	missense,missense	CPNE7	NM_014427.4,NM_153636.2	43,43	0,94,6404	AA,AG,GG		0.593,0.9782,0.7233	probably-damaging,probably-damaging	397/634,322/559	89655120	94,12902	2198	4300	6498	SO:0001583	missense	27132	exon12			ACCCGCGGAACAG	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1190G>A	16.37:g.89655120G>A	ENSP00000268720:p.Arg397Gln	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	41	0.706897	NM_014427		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	10	0.004578754578754579	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	6	0.0079155672823219	G	18.57	3.653381	0.67472	0.009782	0.00593	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.18174	2.45;2.41;2.23	3.75	3.75	0.43078	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	M	0.64676	1.99	0.49798	D	0.999823	P;P	0.52316	0.907;0.952	P;B	0.46299	0.511;0.259	T	0.06481	-1.0824	10	0.49607	T	0.09	-8.211	15.5036	0.75719	0.0:0.0:1.0:0.0	rs28568523;rs28568523	322;397	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	Q	322;397;42	ENSP00000317374:R322Q;ENSP00000268720:R397Q;ENSP00000435876:R42Q	ENSP00000268720:R397Q	R	+	2	0	CPNE7	88182621	0.993000	0.37304	0.844000	0.33320	0.161000	0.22273	7.195000	0.77798	1.776000	0.52262	0.313000	0.20887	CGG	G|0.992;A|0.008	0.008	strong		0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89655120	G	A	89655120	3	1	22	1	0	0	0	0	1	0	0	0	3817	1116	39	1	1236	1	CPNE7	16	89655120	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9760	89655120	699633	8441	13549										
C16orf7	9605	hgsc.bcm.edu	37	chr16	89778919	89778919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccatcatctgccgctgTagagagagggtctggggggg	16	9	4	2	rs139626173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89778919T>C	ENST00000389386.3	-	6	679	c.555A>G	c.(553-555)ctA>ctG	p.L185L	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Silent_p.L115L	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	185					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCTGCCGCTGTAGAGAGAGGG	0.662													t|||	80	0.0159744	0.0575	0.0058	5008	,	,		12775	0.0		0.0	False		,,,				2504	0.0				p.L185L		Atlas-SNP	.											.	.	.	.	0			c.A555G						PASS	.			191,3575		3,185,1695	49	56	54		555	0.6	1	16	dbSNP_134	54	4,8210		0,4,4103	no	coding-synonymous	C16orf7	NM_004913.2		3,189,5798	CC,CT,TT		0.0487,5.0717,1.6277		185/632	89778919	195,11785	1883	4107	5990	SO:0001819	synonymous_variant	9605	exon6			CCGCTGTAGAGAG	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.555A>G	16.37:g.89778919T>C		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	38	27	0.710526	NM_004913		Silent	SNP	ENST00000389386.3	37	CCDS42220.1																																																																																			T|0.989;C|0.011	0.011	strong		0.662	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		C	89778919	T	C	89778919	2	2	22	1	0	0	0	0	0	0	0	1	1828	1625	57	2		2	C16orf7	16	89778919	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	123799	89778919	575834	8442	13550										
ZNF276	92822	hgsc.bcm.edu	37	chr16	89790020	89790020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagaccaagaccctgccCagcacggatgtggcccagcc	12	16	0	2	rs34629175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89790020C>T	ENST00000443381.2	+	4	1006	c.909C>T	c.(907-909)ccC>ccT	p.P303P	VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.P222L|ZNF276_ENST00000446326.2_Missense_Mutation_p.P100L|ZNF276_ENST00000289816.5_Silent_p.P228P	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGACCCTGCCCAGCACGGATG	0.697													C|||	131	0.0261581	0.0968	0.0043	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.0				p.P303P		Atlas-SNP	.											.	ZNF276	70	.	0			c.C909T						PASS	.	C	,	354,4038		12,330,1854	30	37	34		909,684	2.4	0.1	16	dbSNP_126	34	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous	ZNF276	NM_001113525.1,NM_152287.3	,	12,331,6147	TT,TC,CC		0.0116,8.0601,2.735	,	303/615,228/540	89790020	355,12625	2196	4294	6490	SO:0001819	synonymous_variant	92822	exon4			CCTGCCCAGCACG	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.909C>T	16.37:g.89790020C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	123	66	0.536585	NM_001113525	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	2.587	-0.296169	0.05532	0.080601	1.16E-4	ENSG00000158805	ENST00000446326	T	0.13307	2.6	5.66	2.44	0.29823	.	0.247400	0.40818	N	0.001014	T	0.00468	0.0015	.	.	.	0.24132	N	0.995761	B	0.11235	0.004	B	0.08055	0.003	T	0.30765	-0.9967	9	0.56958	D	0.05	-22.5813	5.0473	0.14490	0.0:0.5552:0.1597:0.2851	rs34629175	100	A8K186	.	L	100	ENSP00000415999:P100L	ENSP00000415999:P100L	P	+	2	0	ZNF276	88317521	0.001000	0.12720	0.110000	0.21437	0.015000	0.08874	0.109000	0.15417	0.240000	0.21263	-0.367000	0.07326	CCA	C|0.976;T|0.024	0.024	strong		0.697	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		T	89790020	C	T	89790020	2	4	22	1	0	0	0	0	0	0	0	1	17808	581	21	2		2	ZNF276	16	89790020	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11101	89790020	564733	8443	13551										
FANCA	2175	hgsc.bcm.edu	37	chr16	89807233	89807233	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaggtcagatgtgacgaCagcaggcccatcaaggagaa	13	8	2	4	rs11649210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89807233C>G	ENST00000389301.3	-	38	3837	c.3807G>C	c.(3805-3807)ctG>ctC	p.L1269L	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Silent_p.L1269L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1269					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGTGACGACAGCAGGCCCA	0.463			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	691	0.137979	0.1543	0.0346	5008	,	,		17285	0.2629		0.0736	False		,,,				2504	0.1268				p.L1269L		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.G3807C						PASS	.	G	,,	629,3767	764.9+/-413.3	38,553,1607	84	77	79		3807,,	-7.2	0.1	16	dbSNP_120	79	774,7826	781.2+/-407.6	32,710,3558	no	coding-synonymous,utr-3,utr-3	FANCA,ZNF276	NM_000135.2,NM_001113525.1,NM_152287.3	,,	70,1263,5165	GG,GC,CC		9.0,14.3085,10.7956	,,	1269/1456,,	89807233	1403,11593	2198	4300	6498	SO:0001819	synonymous_variant	2175	exon38	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGACGACAGCAGG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3807G>C	16.37:g.89807233C>G		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	206	102	0.495146	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			C|0.892;G|0.108	0.108	strong		0.463	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			G	89807233	C	G	89807233	2	3	22	1	0	0	0	0	0	0	0	1	5662	465	17	4		4	FANCA	16	89807233	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17213	89807233	547520	8444	13552										
FANCA	2175	hgsc.bcm.edu	37	chr16	89809319	89809319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccagtccgggttgggtgcTggggaggcagcctcagggga	20	9	1	0	rs1800358	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89809319T>C	ENST00000389301.3	-	37	3684	c.3654A>G	c.(3652-3654)ccA>ccG	p.P1218P	FANCA_ENST00000568369.1_Silent_p.P1218P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1218					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTTGGGTGCTGGGGAGGCAG	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	789	0.157548	0.2216	0.0389	5008	,	,		18197	0.2629		0.0765	False		,,,				2504	0.1299				p.P1218P		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.A3654G						PASS	.	C		924,3472	736.3+/-410.8	87,750,1361	71	71	71		3654	-9.7	0	16	dbSNP_89	71	791,7809	783.2+/-407.6	36,719,3545	no	coding-synonymous	FANCA	NM_000135.2		123,1469,4906	CC,CT,TT		9.1977,21.0191,13.1964		1218/1456	89809319	1715,11281	2198	4300	6498	SO:0001819	synonymous_variant	2175	exon37	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GGGTGCTGGGGAG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3654A>G	16.37:g.89809319T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	92	39	0.423913	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			T|0.874;C|0.126	0.126	strong		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89809319	T	C	89809319	2	2	22	1	0	0	0	0	0	0	0	1	5662	1567	55	3		3	FANCA	16	89809319	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2086	89809319	545434	8445	13553										
FANCA	2175	hgsc.bcm.edu	37	chr16	89836323	89836323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggacaggaaggccagcaCcaggtgcaggaggacccaca	15	12	0	0	rs7195066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89836323C>T	ENST00000389301.3	-	26	2456	c.2426G>A	c.(2425-2427)gGt>gAt	p.G809D	FANCA_ENST00000567284.2_5'Flank|FANCA_ENST00000568369.1_Missense_Mutation_p.G809D	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	809			G -> D (common polymorphism; dbSNP:rs7195066). {ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAGGCCAGCACCAGGTGCAGG	0.617			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	3339	0.666733	0.7398	0.5821	5008	,	,		17886	0.9881		0.3221	False		,,,				2504	0.6513				p.G809D		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	FANCA,NS,carcinoma,0,1	FANCA	99	1	0			c.G2426A						PASS	.	T	ASP/GLY	2895,1501	476.3+/-357.6	953,989,256	92	68	76		2426	-0.2	0	16	dbSNP_116	76	2702,5898	682.3+/-403.8	438,1826,2036	yes	missense	FANCA	NM_000135.2	94	1391,2815,2292	TT,TC,CC		31.4186,34.1447,43.0671	benign	809/1456	89836323	5597,7399	2198	4300	6498	SO:0001583	missense	2175	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CCAGCACCAGGTG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2426G>A	16.37:g.89836323C>T	ENSP00000373952:p.Gly809Asp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	91	46	0.505495	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	1344	0.6153846153846154	348	0.7073170731707317	190	0.5248618784530387	565	0.9877622377622378	241	0.3179419525065963	T	3.507	-0.100499	0.06967	0.658553	0.314186	ENSG00000187741	ENST00000389301	D	0.84442	-1.85	3.13	-0.167	0.13347	.	0.597657	0.15671	N	0.250384	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27054	-1.0085	9	0.18710	T	0.47	-0.0117	2.3692	0.04326	0.1117:0.3478:0.3548:0.1856	rs7195066;rs17233043;rs60022722;rs7195066	809;809	B4DRI7;O15360	.;FANCA_HUMAN	D	809	ENSP00000373952:G809D	ENSP00000373952:G809D	G	-	2	0	FANCA	88363824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.305000	0.19254	-0.200000	0.10300	-1.562000	0.00884	GGT	C|0.485;T|0.515	0.515	strong		0.617	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89836323	C	T	89836323	3	4	22	1	0	0	0	0	1	0	0	0	5662	507	18	2	2013	2	FANCA	16	89836323	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27004	89836323	518430	8446	13554										
FANCA	2175	hgsc.bcm.edu	37	chr16	89839752	89839752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagctgtcccaggggctcCtcagcagagttgggttctgc	15	11	2	2	rs17232917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89839752C>T	ENST00000389301.3	-	22	1971	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.E647E	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	647					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCAGGGGCTCCTCAGCAGAGT	0.562			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	191	0.038139	0.1407	0.0072	5008	,	,		17401	0.0		0.0	False		,,,				2504	0.0				p.E647E		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.G1941A						PASS	.	C		425,3647		19,387,1630	32	27	29		1941	-9.1	0	16	dbSNP_123	29	1,7893		0,1,3946	no	coding-synonymous	FANCA	NM_000135.2		19,388,5576	TT,TC,CC		0.0127,10.4371,3.5601		647/1456	89839752	426,11540	2036	3947	5983	SO:0001819	synonymous_variant	2175	exon22	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GGGCTCCTCAGCA	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1941G>A	16.37:g.89839752C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			C|0.960;T|0.040	0.040	strong		0.562	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89839752	C	T	89839752	2	4	22	1	0	0	0	0	0	0	0	1	5662	680	24	2		2	FANCA	16	89839752	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3429	89839752	515001	8447	13555										
FANCA	2175	hgsc.bcm.edu	37	chr16	89849480	89849480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagggagcggtacttgcCgggaaccaggggtgggtgga	22	6	0	0	rs2239359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89849480C>T	ENST00000389301.3	-	16	1531	c.1501G>A	c.(1501-1503)Ggc>Agc	p.G501S	FANCA_ENST00000568369.1_Missense_Mutation_p.G501S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	501			G -> S (common polymorphism; dbSNP:rs2239359). {ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:8896563, ECO:0000269|PubMed:9169126, ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890, ECO:0000269|PubMed:9721219, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGGTACTTGCCGGGAACCAGG	0.597			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	3125	0.624002	0.6997	0.5821	5008	,	,		18307	0.8671		0.4066	False		,,,				2504	0.5245				p.G501S		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.G1501A						PASS	.	T	SER/GLY	2991,1405	460.2+/-352.5	1010,971,217	178	136	150		1501	-4.6	0	16	dbSNP_98	150	3277,5323	648.0+/-400.4	626,2025,1649	yes	missense	FANCA	NM_000135.2	56	1636,2996,1866	TT,TC,CC		38.1047,31.9609,48.2302	benign	501/1456	89849480	6268,6728	2198	4300	6498	SO:0001583	missense	2175	exon16	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ACTTGCCGGGAAC	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1501G>A	16.37:g.89849480C>T	ENSP00000373952:p.Gly501Ser	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	230	112	0.486957	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	1326	0.6071428571428571	333	0.676829268292683	196	0.5414364640883977	476	0.8321678321678322	321	0.4234828496042216	T	0.018	-1.467911	0.01053	0.680391	0.381047	ENSG00000187741	ENST00000389301	D	0.82803	-1.65	5.5	-4.64	0.03349	.	1.404820	0.04079	N	0.309285	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40308	-0.9570	9	0.02654	T	1	0.0	14.5434	0.68013	0.0:0.6757:0.0904:0.2339	rs2239359;rs17232721;rs17745942;rs52816520;rs60434029;rs2239359	501;501	B4DRI7;O15360	.;FANCA_HUMAN	S	501	ENSP00000373952:G501S	ENSP00000373952:G501S	G	-	1	0	FANCA	88376981	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.038000	0.12144	-1.689000	0.01434	-1.234000	0.01563	GGC	C|0.439;N|0.001	.	strong		0.597	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89849480	C	T	89849480	3	4	22	1	0	0	0	0	1	0	0	0	5662	652	23	1	2978	1	FANCA	16	89849480	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9728	89849480	505273	8448	13556										
FANCA	2175	hgsc.bcm.edu	37	chr16	89857880	89857880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggcgcacaaccaggaaCgcagtgaccatgctgtccag	12	14	0	1	rs1800332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89857880C>T	ENST00000389301.3	-	14	1320	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	FANCA_ENST00000568369.1_Silent_p.A430A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	430					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAACCAGGAACGCAGTGACCA	0.557			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	163	0.0325479	0.1195	0.0072	5008	,	,		20326	0.0		0.0	False		,,,				2504	0.0				p.A430A		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	FANCA,NS,lymphoid_neoplasm,-1,1	FANCA	99	1	0			c.G1290A						PASS	.	C		453,3943	217.1+/-235.6	20,413,1765	63	51	55		1290	-10.9	0	16	dbSNP_89	55	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	FANCA	NM_000135.2		20,415,6063	TT,TC,CC		0.0233,10.3048,3.5011		430/1456	89857880	455,12541	2198	4300	6498	SO:0001819	synonymous_variant	2175	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CAGGAACGCAGTG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1290G>A	16.37:g.89857880C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	96	37	0.385417	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			C|0.967;T|0.033	0.033	strong		0.557	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89857880	C	T	89857880	2	4	22	1	0	0	0	0	0	0	0	1	5662	523	19	1		1	FANCA	16	89857880	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8400	89857880	496873	8449	13557										
FANCA	2175	hgsc.bcm.edu	37	chr16	89874756	89874756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacgtgaagatgccacaccGcttcaagcaacaaagaactc	8	12	1	3	rs17232246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89874756G>A	ENST00000389301.3	-	6	572	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FANCA_ENST00000534992.1_Missense_Mutation_p.A181V|FANCA_ENST00000563673.1_Missense_Mutation_p.A181V|FANCA_ENST00000389302.3_Missense_Mutation_p.A181V|FANCA_ENST00000543736.1_Missense_Mutation_p.A149V|FANCA_ENST00000568369.1_Missense_Mutation_p.A181V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	181			A -> V (in FA; dbSNP:rs17232246).		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ATGCCACACCGCTTCAAGCAA	0.398			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	267	0.0533147	0.1959	0.0115	5008	,	,		18304	0.0		0.0	False		,,,				2504	0.0				p.A181V		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.C542T						PASS	.	G	VAL/ALA,VAL/ALA	738,3658	304.9+/-288.7	64,610,1524	137	129	131		542,542	2.8	0.3	16	dbSNP_123	131	4,8596	2.2+/-6.3	0,4,4296	yes	missense,missense	FANCA	NM_000135.2,NM_001018112.1	64,64	64,614,5820	AA,AG,GG		0.0465,16.788,5.7094	benign,benign	181/1456,181/298	89874756	742,12254	2198	4300	6498	SO:0001583	missense	2175	exon6	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CACACCGCTTCAA	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.542C>T	16.37:g.89874756G>A	ENSP00000373952:p.Ala181Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	194	87	0.448454	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	65	0.02976190476190476	61	0.12398373983739837	4	0.011049723756906077	0	0.0	0	0.0	G	7.667	0.686109	0.14973	0.16788	4.65E-4	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.77	2.81	0.32909	.	0.147328	0.30879	N	0.008682	T	0.00109	0.0003	L	0.58669	1.825	0.32276	N	0.568249	P;B;B;B;B;P	0.48230	0.907;0.241;0.06;0.06;0.06;0.907	B;B;B;B;B;B	0.33295	0.161;0.064;0.012;0.019;0.012;0.161	T	0.04165	-1.0972	10	0.38643	T	0.18	-6.3506	9.5774	0.39465	0.1724:0.0:0.8276:0.0	rs17232246	181;149;181;181;181;181	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	V	181;181;181;149	ENSP00000373952:A181V;ENSP00000373953:A181V;ENSP00000443675:A181V;ENSP00000443409:A149V	ENSP00000373952:A181V	A	-	2	0	FANCA	88402257	0.730000	0.28100	0.335000	0.25508	0.047000	0.14425	0.788000	0.26872	0.517000	0.28361	-0.924000	0.02725	GCG	G|0.950;A|0.050	0.050	strong		0.398	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89874756	G	A	89874756	3	1	22	1	0	0	0	0	1	0	0	0	5662	1087	38	1	3982	1	FANCA	16	89874756	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16876	89874756	479997	8450	13558										
SPIRE2	84501	hgsc.bcm.edu	37	chr16	89927102	89927102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccccaggtacctgtcccGcgagtgtctctgaccccagc	9	19	1	1	rs28478911		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89927102G>A	ENST00000378247.3	+	10	1517	c.1474G>A	c.(1474-1476)Gcg>Acg	p.A492T	SPIRE2_ENST00000393062.2_Missense_Mutation_p.A492T	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	492					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TACCTGTCCCGCGAGTGTCTC	0.642											OREG0024056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		14998	0.0		0.0	False		,,,				2504	0.0				p.A492T		Atlas-SNP	.											SPIRE2,colon,carcinoma,-1,1	SPIRE2	63	1	0			c.G1474A						PASS	.	G	THR/ALA	3,4371		0,3,2184	29	28	28		1474	1.9	0	16	dbSNP_125	28	0,8572		0,0,4286	no	missense	SPIRE2	NM_032451.1	58	0,3,6470	AA,AG,GG		0.0,0.0686,0.0232	benign	492/715	89927102	3,12943	2187	4286	6473	SO:0001583	missense	84501	exon10			TGTCCCGCGAGTG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1474G>A	16.37:g.89927102G>A	ENSP00000367494:p.Ala492Thr	Somatic	67	0	0	1271	WXS	Illumina HiSeq	Phase_I	76	41	0.539474	NM_032451	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	6.872	0.530358	0.13127	6.86E-4	0.0	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.43688	0.95;0.94	5.08	1.87	0.25490	.	0.915637	0.09208	N	0.833668	T	0.25382	0.0617	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.15719	0.001;0.014;0.008;0.001	B;B;B;B	0.10450	0.001;0.005;0.002;0.001	T	0.27571	-1.0070	10	0.15066	T	0.55	-9.4382	6.2595	0.20891	0.1685:0.1545:0.6769:0.0	rs28478911	359;492;444;492	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	T	492	ENSP00000367494:A492T;ENSP00000376782:A492T	ENSP00000367494:A492T	A	+	1	0	SPIRE2	88454603	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	1.200000	0.32247	0.668000	0.31126	-0.794000	0.03295	GCG	G|1.000;|0.000	.	weak		0.642	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		A	89927102	G	A	89927102	3	1	22	1	0	0	0	0	1	0	0	0	15071	1087	38	1	1512	1	SPIRE2	16	89927102	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52346	89927102	427651	8451	13559										
TCF25	22980	hgsc.bcm.edu	37	chr16	89940232	89940232	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtcccgggggcgcagggAaggagggcgtccgagtcaac	20	11	1	0	rs13338056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89940232A>C	ENST00000263346.8	+	1	213	c.157A>C	c.(157-159)Aag>Cag	p.K53Q		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	53					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGGCGCAGGGAAGGAGGGCGT	0.706													a|||	400	0.0798722	0.1989	0.0245	5008	,	,		6693	0.0		0.004	False		,,,				2504	0.1186				p.K53Q		Atlas-SNP	.											.	TCF25	61	.	0			c.A157C						PASS	.		GLN/LYS	530,3812		26,478,1667	12	16	15		157	3.8	1	16	dbSNP_121	15	18,8514		0,18,4248	yes	missense	TCF25	NM_014972.2	53	26,496,5915	CC,CA,AA		0.211,12.2064,4.2566	benign	53/677	89940232	548,12326	2171	4266	6437	SO:0001583	missense	22980	exon1			GCAGGGAAGGAGG	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.157A>C	16.37:g.89940232A>C	ENSP00000263346:p.Lys53Gln	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	27	0.341772	NM_014972	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	CCDS10987.1	99	0.04532967032967033	90	0.18292682926829268	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	a	18.59	3.657226	0.67586	0.122064	0.00211	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	4.92	3.79	0.43588	.	0.415026	0.24599	N	0.037154	T	0.00073	0.0002	N	0.22421	0.69	0.19300	P	0.999975321	P;B	0.52061	0.95;0.201	P;B	0.48227	0.571;0.036	T	0.06499	-1.0823	8	0.62326	D	0.03	.	4.3462	0.11134	0.6523:0.1755:0.1722:0.0	rs13338056;rs13338056	53;53	B4DVF2;Q9BQ70	.;TCF25_HUMAN	Q	53	.	ENSP00000263346:K53Q	K	+	1	0	TCF25	88467733	0.996000	0.38824	0.977000	0.42913	0.425000	0.31504	0.538000	0.23160	2.078000	0.62432	0.375000	0.23000	AAG	A|0.803;C|0.197	0.197	strong		0.706	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		C	89940232	A	C	89940232	3	2	22	1	0	0	0	0	1	0	0	0	15690	247	9	5	159	5	TCF25	16	89940232	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13130	89940232	414521	8452	13560										
MC1R	4157	hgsc.bcm.edu	37	chr16	89985984	89985984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctggaggccggtgcactGgtggcccgggctgcggtgct	19	12	0	0	rs3212364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89985984G>A	ENST00000555147.1	+	1	1698	c.318G>A	c.(316-318)ctG>ctA	p.L106L	RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Silent_p.L106L|MC1R_ENST00000555427.1_Silent_p.L106L|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	106					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCGGTGCACTGGTGGCCCGGG	0.647									Melanoma, Familial Clustering of				G|||	56	0.0111821	0.0401	0.0043	5008	,	,		18870	0.0		0.0	False		,,,				2504	0.0				p.L106L		Atlas-SNP	.											.	MC1R	20	.	0			c.G318A						PASS	.	G		179,4203		4,171,2016	42	51	48		318	4.8	0.2	16	dbSNP_106	48	2,8582		0,2,4290	no	coding-synonymous	MC1R	NM_002386.3		4,173,6306	AA,AG,GG		0.0233,4.0849,1.396		106/318	89985984	181,12785	2191	4292	6483	SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		TGCACTGGTGGCC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.318G>A	16.37:g.89985984G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_002386	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			G|0.991;A|0.009	0.009	strong		0.647	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		A	89985984	G	A	89985984	2	1	22	1	0	0	0	0	0	0	0	1	9363	1335	47	2		2	MC1R	16	89985984	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45752	89985984	368769	8453	13561										
MC1R	4157	hgsc.bcm.edu	37	chr16	89986566	89986566	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccctcatctacgccttCcacagccaggagctccgcag	8	19	2	0	rs3212367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89986566C>T	ENST00000555147.1	+	1	2280	c.900C>T	c.(898-900)ttC>ttT	p.F300F	MC1R_ENST00000555427.1_Silent_p.F300F|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Silent_p.F300F|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	300					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCTACGCCTTCCACAGCCAGG	0.612									Melanoma, Familial Clustering of				C|||	98	0.0195687	0.0711	0.0058	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.0				p.F300F		Atlas-SNP	.											.	MC1R	20	.	0			c.C900T						PASS	.	C		201,3963		2,197,1883	62	66	64		900	3.3	1	16	dbSNP_106	64	5,8459		0,5,4227	no	coding-synonymous	MC1R	NM_002386.3		2,202,6110	TT,TC,CC		0.0591,4.8271,1.6313		300/318	89986566	206,12422	2082	4232	6314	SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		CGCCTTCCACAGC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.900C>T	16.37:g.89986566C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	162	75	0.462963	NM_002386	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			C|0.978;T|0.022	0.022	strong		0.612	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		T	89986566	C	T	89986566	2	4	22	1	0	0	0	0	0	0	0	1	9363	854	30	2		2	MC1R	16	89986566	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	582	89986566	368187	8454	13562										
MC1R	4157	hgsc.bcm.edu	37	chr16	89986608	89986608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgctcaaggaggtgctgacAtgctcctggtgagcgcggtg	16	10	1	2	rs2228478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:89986608A>G	ENST00000555147.1	+	1	2322	c.942A>G	c.(940-942)acA>acG	p.T314T	MC1R_ENST00000555427.1_Silent_p.T314T|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Silent_p.T314T|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	314					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGGTGCTGACATGCTCCTGGT	0.592									Melanoma, Familial Clustering of				G|||	1297	0.258986	0.4871	0.0836	5008	,	,		19553	0.2927		0.0924	False		,,,				2504	0.2117				p.T314T		Atlas-SNP	.											.	MC1R	20	.	0			c.A942G						PASS	.	G		1731,2511		347,1037,737	67	66	66		942	0.6	0.8	16	dbSNP_98	66	914,7554		55,804,3375	no	coding-synonymous	MC1R	NM_002386.3		402,1841,4112	GG,GA,AA		10.7936,40.8062,20.8104		314/318	89986608	2645,10065	2121	4234	6355	SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		GCTGACATGCTCC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.942A>G	16.37:g.89986608A>G		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	212	104	0.490566	NM_002386	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			A|0.821;G|0.179	0.179	strong		0.592	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		G	89986608	A	G	89986608	2	3	22	1	0	0	0	0	0	0	0	1	9363	204	8	2		2	MC1R	16	89986608	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42	89986608	368145	8455	13563										
DEF8	54849	hgsc.bcm.edu	37	chr16	90032296	90032296	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactacgacaactccaccacTtgtcccaagtgtgcccggct	7	16	0	0	rs11861894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:90032296T>G	ENST00000268676.7	+	13	1553	c.1464T>G	c.(1462-1464)acT>acG	p.T488T	DEF8_ENST00000570182.1_Silent_p.T417T|DEF8_ENST00000569453.1_Silent_p.T427T|DEF8_ENST00000563795.1_Silent_p.T410T|DEF8_ENST00000567874.1_Silent_p.T367T|DEF8_ENST00000563594.1_Silent_p.T427T	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	488					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ACTCCACCACTTGTCCCAAGT	0.627													G|||	806	0.160942	0.4599	0.0591	5008	,	,		17453	0.0089		0.0258	False		,,,				2504	0.1247				p.T488T		Atlas-SNP	.											.	DEF8	28	.	0			c.T1464G						PASS	.	G	,,,,,	1762,2634	642.8+/-397.7	346,1070,782	51	43	46		1251,1101,1281,1230,1281,1464	-6.2	0.6	16	dbSNP_120	46	253,8347	806.5+/-407.2	4,245,4051	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_207514.2	,,,,,	350,1315,4833	GG,GT,TT		2.9419,40.0819,15.5048	,,,,,	417/442,367/392,427/452,410/435,427/452,488/513	90032296	2015,10981	2198	4300	6498	SO:0001819	synonymous_variant	54849	exon13			CACCACTTGTCCC	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1464T>G	16.37:g.90032296T>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	109	63	0.577982	NM_207514	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	CCDS10989.1																																																																																			T|0.861;G|0.139	0.139	strong		0.627	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		G	90032296	T	G	90032296	2	3	22	1	0	0	0	0	0	0	0	1	4387	1596	56	5		5	DEF8	16	90032296	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	45688	90032296	322457	8456	13564										
C16orf3	2622	hgsc.bcm.edu	37	chr16	90095484	90095484	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcatgtgagctgctgccCgtctccctgtccgcttccca	9	18	1	1	rs3785184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:90095484C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Silent_p.T89T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGCTGCTGCCCGTCTCCCTGT	0.597													C|||	1176	0.234824	0.0946	0.2968	5008	,	,		16761	0.62		0.1213	False		,,,				2504	0.1002				p.T89T		Atlas-SNP	.											C16orf3,rectum,carcinoma,-2,2	C16orf3	14	2	0			c.G267A						PASS	.	C	,	352,3822		14,324,1749	85	47	60		267,	-0.4	0	16	dbSNP_107	60	648,7580		23,602,3489	no	coding-synonymous,intron	C16orf3,GAS8	NM_001214.3,NM_001481.2	,	37,926,5238	TT,TC,CC		7.8755,8.4332,8.0632	,	89/118,	90095484	1000,11402	2087	4114	6201	SO:0001627	intron_variant	750	exon1			GCTGCCCGTCTCC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1354C>T	16.37:g.90095484C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	150	42	0.28	NM_001214	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																			C|0.821;T|0.179	0.179	strong		0.597	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095484	C	T	90095484	1	4	22	0	1	0	0	0	0	0	0	0	1812	639	23	1		1	C16orf3	16	90095484	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	63188	90095484	259269	8457	13565										
C16orf3	2622	hgsc.bcm.edu	37	chr16	90095573	90095573	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcctacggggcaggctaCggggcagcttacggggcagg	19	11	0	0	rs77382359		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:90095573C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.V60I|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctacggggcagctt	0.672																																					p.V60I		Atlas-SNP	.											C16orf3,rectum,carcinoma,0,1	C16orf3	14	1	0			c.G178A						PASS	.						22	20	21					16																	90095573		2194	4299	6493	SO:0001627	intron_variant	750	exon1			AGGCTACGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1443C>T	16.37:g.90095573C>T		Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	241	22	0.0912863	NM_001214	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788068	0.02884	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	I	60	ENSP00000386218:V60I	.	V	-	1	0	C16orf3	88623074	0.031000	0.19500	0.015000	0.15790	0.017000	0.09413	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA	C|0.500;T|0.500	0.500	weak		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095573	C	T	90095573	1	4	22	0	1	0	0	0	0	0	0	0	1812	536	19	1		1	C16orf3	16	90095573	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89	90095573	259180	8458	13566										
GAS8	2622	hgsc.bcm.edu	37	chr16	90097748	90097748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccgggaggagctggaccgCgagcgggaggaacgaaacta	17	9	0	0	rs2302513	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr16:90097748C>T	ENST00000268699.4	+	3	254	c.132C>T	c.(130-132)cgC>cgT	p.R44R	GAS8_ENST00000536122.1_Silent_p.R19R|GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	44	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGCTGGACCGCGAGCGGGAGG	0.642													c|||	1244	0.248403	0.1233	0.2954	5008	,	,		16413	0.627		0.1213	False		,,,				2504	0.1247				p.R44R		Atlas-SNP	.											GAS8,NS,carcinoma,+1,1	GAS8	29	1	0			c.C132T						PASS	.	T		549,3847	242.8+/-252.7	39,471,1688	80	73	75		132	-11.8	0.1	16	dbSNP_100	75	802,7798	187.9+/-235.0	46,710,3544	no	coding-synonymous	GAS8	NM_001481.2		85,1181,5232	TT,TC,CC		9.3256,12.4886,10.3955		44/479	90097748	1351,11645	2198	4300	6498	SO:0001819	synonymous_variant	2622	exon3			GGACCGCGAGCGG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.132C>T	16.37:g.90097748C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	37	21	0.567568	NM_001481	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																			T|0.179;G|0.000;C|0.821	0.179	strong		0.642	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90097748	C	T	90097748	2	4	22	1	0	0	0	0	0	0	0	1	6251	755	27	1		1	GAS8	16	90097748	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2175	90097748	257005	8459	13567										
RPH3AL	9501	hgsc.bcm.edu	37	chr17	171137	171137	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatggcctccacctccgcCgggctgaggtgctgcttcct	13	15	0	1	rs78269977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:171137C>A	ENST00000331302.7	-	4	454	c.147G>T	c.(145-147)ccG>ccT	p.P49P	RPH3AL_ENST00000576001.1_5'Flank|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000323434.8_Silent_p.P49P|RPH3AL_ENST00000536489.2_Silent_p.P49P|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	49	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCACCTCCGCCGGGCTGAGGT	0.677													C|||	346	0.0690895	0.0832	0.0562	5008	,	,		14011	0.0288		0.0835	False		,,,				2504	0.0859				p.P49P		Atlas-SNP	.											.	RPH3AL	18	.	0			c.G147T						PASS	.	C	,,,	339,4067	178.3+/-207.1	17,305,1881	86	82	83		147,147,147,147	-10.1	0	17	dbSNP_131	83	823,7777	191.1+/-237.4	35,753,3512	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RPH3AL	NM_001190411.1,NM_001190412.1,NM_001190413.1,NM_006987.3	,,,	52,1058,5393	AA,AC,CC		9.5698,7.6941,8.9343	,,,	49/316,49/287,49/287,49/316	171137	1162,11844	2203	4300	6503	SO:0001819	synonymous_variant	9501	exon3			CTCCGCCGGGCTG		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.147G>T	17.37:g.171137C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	60	22	0.366667	NM_001190413	D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																			C|0.917;A|0.083	0.083	strong		0.677	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		A	171137	C	A	171137	2	1	22	1	0	0	0	0	0	0	0	1	13552	639	23	4		4	RPH3AL	17	171137	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10		171137	81024073	8460	13568										
GEMIN4	50628	hgsc.bcm.edu	37	chr17	648916	648916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttacagatctcaaaaagTgtggctggcacttcacactt	8	10	2	1	rs12942598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:648916T>C	ENST00000319004.5	-	2	2485	c.2367A>G	c.(2365-2367)acA>acG	p.T789T	GEMIN4_ENST00000576778.1_Silent_p.T778T	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	789					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCTCAAAAAGTGTGGCTGGCA	0.587													T|||	74	0.0147764	0.0008	0.0331	5008	,	,		19967	0.0		0.0398	False		,,,				2504	0.0102				p.T789T		Atlas-SNP	.											.	GEMIN4	116	.	0			c.A2367G						PASS	.	T		28,3812		0,28,1892	16	17	17		2367	-5.6	1	17	dbSNP_121	17	360,7860		8,344,3758	no	coding-synonymous	GEMIN4	NM_015721.2		8,372,5650	CC,CT,TT		4.3796,0.7292,3.2172		789/1059	648916	388,11672	1920	4110	6030	SO:0001819	synonymous_variant	50628	exon2			AAAAAGTGTGGCT	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2367A>G	17.37:g.648916T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	98	38	0.387755	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	CCDS45559.1																																																																																			T|0.974;C|0.026	0.026	strong		0.587	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		C	648916	T	C	648916	2	2	22	1	0	0	0	0	0	0	0	1	6330	1683	59	2		2	GEMIN4	17	648916	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	477779	648916	80546294	8461	13569										
GEMIN4	50628	hgsc.bcm.edu	37	chr17	649164	649164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccagtatttgctgaagcGgtccaagagctggcacaagc	12	11	0	2	rs34519093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:649164G>A	ENST00000319004.5	-	2	2237	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	GEMIN4_ENST00000576778.1_Missense_Mutation_p.R696C	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	707					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTGCTGAAGCGGTCCAAGAGC	0.542													T|||	116	0.0231629	0.0832	0.0058	5008	,	,		19134	0.0		0.002	False		,,,				2504	0.0				p.R707C		Atlas-SNP	.											.	GEMIN4	116	.	0			c.C2119T						PASS	.	T	CYS/ARG	263,3613		6,251,1681	28	29	29		2119	-6.4	0	17	dbSNP_126	29	4,8282		0,4,4139	yes	missense	GEMIN4	NM_015721.2	180	6,255,5820	AA,AG,GG		0.0483,6.7853,2.1954	benign	707/1059	649164	267,11895	1938	4143	6081	SO:0001583	missense	50628	exon2			TGAAGCGGTCCAA	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2119C>T	17.37:g.649164G>A	ENSP00000321706:p.Arg707Cys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	35	22	0.628571	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	50	0.022893772893772892	46	0.09349593495934959	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	8.559	0.877352	0.17395	0.067853	4.83E-4	ENSG00000179409	ENST00000319004	T	0.05855	3.38	5.56	-6.42	0.01932	.	0.696678	0.15313	N	0.268978	T	0.00109	0.0003	N	0.02011	-0.69	0.25173	N	0.990269	B	0.02656	0.0	B	0.01281	0.0	T	0.37454	-0.9705	10	0.48119	T	0.1	-0.0898	4.5907	0.12306	0.2625:0.4379:0.0738:0.2258	rs34519093	707	P57678	GEMI4_HUMAN	C	707	ENSP00000321706:R707C	ENSP00000321706:R707C	R	-	1	0	GEMIN4	595914	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.501000	0.02281	-2.443000	0.00548	-3.149000	0.00058	CGC	G|0.978;A|0.022	0.022	strong		0.542	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		A	649164	G	A	649164	3	1	22	1	0	0	0	0	1	0	0	0	6330	1116	39	1	1061	1	GEMIN4	17	649164	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248	649164	80546046	8462	13570										
GEMIN4	50628	hgsc.bcm.edu	37	chr17	650371	650371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactggggagtttggccagCgaggtcaggctgacatcccg	15	11	2	1	rs61735317	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:650371C>T	ENST00000319004.5	-	2	1030	c.912G>A	c.(910-912)tcG>tcA	p.S304S	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Silent_p.S293S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	304					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTTTGGCCAGCGAGGTCAGGC	0.627													C|||	116	0.0231629	0.0832	0.0058	5008	,	,		20285	0.0		0.002	False		,,,				2504	0.0				p.S304S		Atlas-SNP	.											.	GEMIN4	116	.	0			c.G912A						PASS	.	C		280,3980		7,266,1857	116	127	124		912	-11.3	0.1	17	dbSNP_129	124	4,8464		0,4,4230	no	coding-synonymous	GEMIN4	NM_015721.2		7,270,6087	TT,TC,CC		0.0472,6.5728,2.2313		304/1059	650371	284,12444	2130	4234	6364	SO:0001819	synonymous_variant	50628	exon2			GGCCAGCGAGGTC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.912G>A	17.37:g.650371C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	66	0.559322	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	CCDS45559.1																																																																																			C|0.978;T|0.022	0.022	strong		0.627	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		T	650371	C	T	650371	2	4	22	1	0	0	0	0	0	0	0	1	6330	755	27	1		1	GEMIN4	17	650371	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1207	650371	80544839	8463	13571										
NXN	64359	hgsc.bcm.edu	37	chr17	706933	706933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcactcacctccccggctaCgaagaacagaaggggtgcct	11	15	1	2	rs61731770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:706933C>T	ENST00000336868.3	-	7	1205	c.1114G>A	c.(1114-1116)Gta>Ata	p.V372I	NXN_ENST00000538650.1_Missense_Mutation_p.V63I|NXN_ENST00000575801.1_Missense_Mutation_p.V264I|NXN_ENST00000537628.2_Missense_Mutation_p.V123I	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	372				V -> I (in Ref. 4; AAH73845). {ECO:0000305}.	cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCCCGGCTACGAAGAACAGA	0.602													c|||	110	0.0219649	0.0787	0.0043	5008	,	,		17906	0.0		0.003	False		,,,				2504	0.0				p.V372I		Atlas-SNP	.											.	NXN	32	.	0			c.G1114A						PASS	.	C	ILE/VAL,ILE/VAL	328,4078	173.4+/-203.2	20,288,1895	102	100	101		790,1114	5.3	1	17	dbSNP_129	101	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	NXN	NM_001205319.1,NM_022463.4	29,29	20,299,6184	TT,TC,CC		0.1279,7.4444,2.6065	benign,benign	264/328,372/436	706933	339,12667	2203	4300	6503	SO:0001583	missense	64359	exon7			CGGCTACGAAGAA		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1114G>A	17.37:g.706933C>T	ENSP00000337443:p.Val372Ile	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	88	52	0.590909	NM_022463	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	CCDS10998.1	42	0.019230769230769232	39	0.07926829268292683	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	13.45	2.239485	0.39598	0.074444	0.001279	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.28454	1.61;2.57	5.26	5.26	0.73747	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.02727	0.0082	L	0.28274	0.84	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.981;0.992	D;P;P	0.74674	0.984;0.899;0.834	T	0.00883	-1.1528	10	0.15952	T	0.53	-19.0247	17.8205	0.88649	0.0:1.0:0.0:0.0	.	264;63;372	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	I	372;63;264	ENSP00000337443:V372I;ENSP00000445087:V63I	ENSP00000337443:V372I	V	-	1	0	NXN	653683	1.000000	0.71417	0.983000	0.44433	0.246000	0.25737	4.470000	0.60175	2.635000	0.89317	0.655000	0.94253	GTA	C|0.977;T|0.023	0.023	strong		0.602	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			T	706933	C	T	706933	3	4	22	1	0	0	0	0	1	0	0	0	10787	536	19	1	201	1	NXN	17	706933	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56562	706933	80488277	8464	13572										
YWHAE	7531	hgsc.bcm.edu	37	chr17	1265304	1265305	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttagctcagtctcaacctINSaaaaaaaaaaaaattttttt					rs543499657|rs34985093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1265304_1265305insA	ENST00000264335.8	-	3	532		c.e3-2		YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Splice_Site|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGTCTCAACCtaaaaaaaaaaa	0.322			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						|||unknown(HR)	578	0.115415	0.3669	0.0346	5008	,	,		19509	0.0188		0.0099	False		,,,				2504	0.0409				.		Atlas-Indel	.		Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	.	YWHAE	50	.	0			c.265-2->T						PASS	.																																			SO:0001630	splice_region_variant	7531	exon4			.	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.265-2->T	17.37:g.1265315_1265315dupA		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	68	15	0.220588	NM_006761	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Splice_Site	INS	ENST00000264335.8	37	CCDS11001.1																																																																																			.	.	none		0.322	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	Intron	A	1265305	-	A	1265304	8	5	22	1	0	1	1	0	0	0	1	0	17499	1536	53	0	520	0	YWHAE	17	1265304	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	558371	1265304	79929906	8465	13573										
SLC43A2	124935	hgsc.bcm.edu	37	chr17	1494567	1494567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctcaggcgggtacctgcGgcatccggctggcacttcac	14	14	2	0	rs12953268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1494567G>A	ENST00000301335.5	-	8	1015	c.927C>T	c.(925-927)gcC>gcT	p.A309A	SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Silent_p.A172A|SLC43A2_ENST00000571650.1_Silent_p.A309A|SLC43A2_ENST00000382147.4_Silent_p.A309A	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGGTACCTGCGGCATCCGGCT	0.682													G|||	1399	0.279353	0.0832	0.3127	5008	,	,		11580	0.1508		0.5388	False		,,,				2504	0.3865				p.A309A		Atlas-SNP	.											SLC43A2,NS,carcinoma,0,1	SLC43A2	37	1	0			c.C927T						scavenged	.	G		726,3680	287.2+/-279.2	55,616,1532	42	43	43		927	-5.5	0.1	17	dbSNP_121	43	4715,3885	595.2+/-393.4	1297,2121,882	no	coding-synonymous	SLC43A2	NM_152346.1		1352,2737,2414	AA,AG,GG		45.1744,16.4775,41.8345		309/570	1494567	5441,7565	2203	4300	6503	SO:0001819	synonymous_variant	124935	exon8			ACCTGCGGCATCC	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.927C>T	17.37:g.1494567G>A		Somatic	37	1	0.027027		WXS	Illumina HiSeq	Phase_I	40	17	0.425	NM_152346	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	CCDS11006.1																																																																																			A|0.422;C|0.000;G|0.578	0.422	strong		0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		A	1494567	G	A	1494567	2	1	22	1	0	0	0	0	0	0	0	1	14633	1103	39	1		1	SLC43A2	17	1494567	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	229263	1494567	79700643	8466	13574										
SLC43A2	124935	hgsc.bcm.edu	37	chr17	1494660	1494660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctccttggcactcctcatGgagctgcccacactcaggcg	10	16	2	0	rs73976240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1494660G>A	ENST00000301335.5	-	8	922	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Silent_p.S141S|SLC43A2_ENST00000571650.1_Silent_p.S278S|SLC43A2_ENST00000382147.4_Silent_p.S278S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	278					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CACTCCTCATGGAGCTGCCCA	0.622													G|||	129	0.0257588	0.0961	0.0029	5008	,	,		10550	0.0		0.0	False		,,,				2504	0.0				p.S278S		Atlas-SNP	.											.	SLC43A2	37	.	0			c.C834T						PASS	.	G		311,4095	167.3+/-198.3	13,285,1905	76	70	72		834	5.1	1	17	dbSNP_130	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLC43A2	NM_152346.1		13,288,6202	AA,AG,GG		0.0349,7.0586,2.4143		278/570	1494660	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	124935	exon8			CCTCATGGAGCTG	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.834C>T	17.37:g.1494660G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	48	0.578313	NM_152346	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	CCDS11006.1																																																																																			G|0.971;A|0.029	0.029	strong		0.622	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		A	1494660	G	A	1494660	2	1	22	1	0	0	0	0	0	0	0	1	14633	1335	47	2		2	SLC43A2	17	1494660	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93	1494660	79700550	8467	13575										
SCARF1	8578	hgsc.bcm.edu	37	chr17	1538561	1538561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggccaccaagtgggggccGccggtggccagtggctgaat	17	13	0	1	rs8072430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1538561G>A	ENST00000263071.4	-	11	2033	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R576W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	662	Gly-rich.		R -> W (in dbSNP:rs8072430). {ECO:0000269|PubMed:8590280, ECO:0000269|PubMed:9395444}.		cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGTGGGGGCCGCCGGTGGCCA	0.682													G|||	105	0.0209665	0.0764	0.0058	5008	,	,		13011	0.0		0.0	False		,,,				2504	0.0				p.R662W		Atlas-SNP	.											.	SCARF1	46	.	0			c.C1984T						PASS	.	G	TRP/ARG,,TRP/ARG	237,3973		10,217,1878	15	17	17		1984,,1726	1.2	0	17	dbSNP_116	17	3,8223		0,3,4110	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	101,,101	10,220,5988	AA,AG,GG		0.0365,5.6295,1.9299	probably-damaging,,probably-damaging	662/831,,576/745	1538561	240,12196	2105	4113	6218	SO:0001583	missense	8578	exon11			GGGGCCGCCGGTG	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1984C>T	17.37:g.1538561G>A	ENSP00000263071:p.Arg662Trp	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	68	25	0.367647	NM_003693	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	36	0.016483516483516484	34	0.06910569105691057	2	0.0055248618784530384	0	0.0	0	0.0	G	11.44	1.639770	0.29157	0.056295	3.65E-4	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35973	1.28;1.28	5.0	1.23	0.21249	.	1.186410	0.06503	N	0.736688	T	0.07908	0.0198	M	0.62723	1.935	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.942;0.976	T	0.04930	-1.0917	10	0.72032	D	0.01	-0.2214	6.3298	0.21264	0.1799:0.0:0.5964:0.2237	rs8072430;rs8072430	576;662	Q14162-2;Q14162	.;SREC_HUMAN	W	662;576	ENSP00000263071:R662W;ENSP00000323964:R576W	ENSP00000263071:R662W	R	-	1	2	SCARF1	1485311	0.001000	0.12720	0.008000	0.14137	0.014000	0.08584	0.529000	0.23019	0.433000	0.26313	-0.377000	0.06932	CGG	G|0.979;A|0.021	0.021	strong		0.682	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		A	1538561	G	A	1538561	3	1	22	1	0	0	0	0	1	0	0	0	13883	1086	38	1	512	1	SCARF1	17	1538561	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43901	1538561	79656649	8468	13576										
RILP	10594	hgsc.bcm.edu	37	chr17	1553003	1553003	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcagtgcccagggccccGgctagatggtacacaagctc	12	14	1	1	rs9896488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1553003G>T	ENST00000572621.1	-	0	7445				PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_Silent_p.A32A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAGGGCCCCGGCTAGATGGT	0.751													G|||	392	0.0782748	0.2073	0.0231	5008	,	,		10869	0.0873		0.003	False		,,,				2504	0.0112				p.A32A		Atlas-SNP	.											.	RILP	24	.	0			c.C96A						PASS	.			510,3290		20,470,1410	5	7	6		96	-2.2	1	17	dbSNP_119	6	32,7890		0,32,3929	no	coding-synonymous	RILP	NM_031430.2		20,502,5339	TT,TG,GG		0.4039,13.4211,4.6238		32/402	1553003	542,11180	1900	3961	5861	SO:0001628	intergenic_variant	83547	exon1			GGCCCCGGCTAGA	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553		17.37:g.1553003G>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_031430	O14547|O75965	Silent	SNP	ENST00000572621.1	37	CCDS11010.1																																																																																			G|0.922;T|0.078	0.078	strong		0.751	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			T	1553003	G	T	1553003	1	4	22	0	1	0	0	0	0	0	0	0	13360	1103	39	4		4	RILP	17	1553003	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14442	1553003	79642207	8469	13577										
PRPF8	10594	hgsc.bcm.edu	37	chr17	1554770	1554770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtcagccatgatcttggcAtgggtggtgacatcctgggg	15	8	2	2	rs1802491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1554770A>G	ENST00000572621.1	-	40	6853	c.6588T>C	c.(6586-6588)caT>caC	p.H2196H	PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank|PRPF8_ENST00000304992.6_Silent_p.H2196H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2196	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGATCTTGGCATGGGTGGTGA	0.537													a|||	1150	0.229633	0.6278	0.085	5008	,	,		22442	0.0883		0.0736	False		,,,				2504	0.1002				p.H2196H		Atlas-SNP	.											.	PRPF8	169	.	0			c.T6588C						PASS	.	G		2350,2056	566.3+/-381.9	631,1088,484	120	108	112		6588	-1.6	1	17	dbSNP_89	112	530,8070	795.7+/-407.5	23,484,3793	no	coding-synonymous	PRPF8	NM_006445.3		654,1572,4277	GG,GA,AA		6.1628,46.6636,22.1436		2196/2336	1554770	2880,10126	2203	4300	6503	SO:0001819	synonymous_variant	10594	exon41			CTTGGCATGGGTG	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6588T>C	17.37:g.1554770A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_006445	O14547|O75965	Silent	SNP	ENST00000572621.1	37	CCDS11010.1																																																																																			A|0.777;G|0.223	0.223	strong		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			G	1554770	A	G	1554770	2	3	22	1	0	0	0	0	0	0	0	1	12575	214	8	2		2	PRPF8	17	1554770	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1767	1554770	79640440	8470	13578										
WDR81	124997	hgsc.bcm.edu	37	chr17	1630992	1630992	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagctgggcgcggtgctGaaggacatcacccctgaggg	16	12	1	2	rs9912287|rs587780502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1630992G>A	ENST00000409644.1	+	1	2739	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	913					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCGCGGTGCTGAAGGACATCA	0.617													G|||	1232	0.246006	0.239	0.2061	5008	,	,		19324	0.1845		0.1948	False		,,,				2504	0.3998				p.L913L		Atlas-SNP	.											.	WDR81	180	.	0			c.G2739A						PASS	.	G	,,,	318,1066		38,242,412	56	54	54		,2739,,	2.7	0.8	17	dbSNP_119	54	689,2493		64,561,966	no	intron,coding-synonymous,intron,intron	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	102,803,1378	AA,AG,GG		21.653,22.9769,22.0543	,,,	,913/1942,,	1630992	1007,3559	692	1591	2283	SO:0001819	synonymous_variant	124997	exon1			GGTGCTGAAGGAC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.2739G>A	17.37:g.1630992G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	134	62	0.462687	NM_001163809	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	CCDS54062.1																																																																																			G|0.790;A|0.208	0.208	strong		0.617	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1630992	G	A	1630992	2	1	22	1	0	0	0	0	0	0	0	1	17327	1277	45	2		2	WDR81	17	1630992	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76222	1630992	79564218	8471	13579										
WDR81	124997	hgsc.bcm.edu	37	chr17	1637458	1637458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggccagcttgaggccccGcagcacgtggtgagctgtga	17	11	0	3	rs587780506|rs398088774|rs8065251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1637458G>A	ENST00000409644.1	+	7	5127	c.5127G>A	c.(5125-5127)ccG>ccA	p.P1709P	WDR81_ENST00000545662.1_Silent_p.P340P|WDR81_ENST00000437219.2_Silent_p.P506P|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.P658P|WDR81_ENST00000419248.1_Silent_p.P482P|WDR81_ENST00000446363.1_Silent_p.P348P	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1709					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGAGGCCCCGCAGCACGTGG	0.672													G|||	1236	0.246805	0.2519	0.2061	5008	,	,		15192	0.1855		0.1978	False		,,,				2504	0.3824				p.P1709P		Atlas-SNP	.											WDR81_ENST00000437219,NS,carcinoma,0,3	WDR81	180	3	0			c.G5127A						PASS	.	G	,,,	1057,3347		118,821,1263	30	32	31		1518,5127,1446,1974	-8.9	0.1	17	dbSNP_116	31	1802,6794		188,1426,2684	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	306,2247,3947	AA,AG,GG		20.9632,24.0009,21.9923	,,,	506/739,1709/1942,482/715,658/891	1637458	2859,10141	2202	4298	6500	SO:0001819	synonymous_variant	124997	exon7			GGCCCCGCAGCAC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5127G>A	17.37:g.1637458G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	35	14	0.4	NM_001163809	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	CCDS54062.1																																																																																			G|0.782;A|0.218	0.218	strong		0.672	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1637458	G	A	1637458	2	1	22	1	0	0	0	0	0	0	0	1	17327	1074	38	1		1	WDR81	17	1637458	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6466	1637458	79557752	8472	13580										
WDR81	124997	hgsc.bcm.edu	37	chr17	1640793	1640793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctttgacctgtacggcagCgaggtggtcactggcaccgt	13	12	1	1	rs587780510|rs8077638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1640793C>T	ENST00000409644.1	+	10	5640	c.5640C>T	c.(5638-5640)agC>agT	p.S1880S	WDR81_ENST00000545662.1_Silent_p.S511S|WDR81_ENST00000437219.2_Silent_p.S677S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.S829S|WDR81_ENST00000419248.1_Silent_p.S653S|WDR81_ENST00000446363.1_Silent_p.S519S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1880					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTACGGCAGCGAGGTGGTCA	0.597													C|||	1210	0.241613	0.23	0.2075	5008	,	,		22298	0.1865		0.1988	False		,,,				2504	0.3824				p.S1880S		Atlas-SNP	.											WDR81_ENST00000437219,colon,carcinoma,0,6	WDR81	180	6	0			c.C5640T						PASS	.	C	,,,	986,3418	366.8+/-318.0	106,774,1322	229	137	168		2031,5640,1959,2487	2	1	17	dbSNP_116	168	1799,6801	323.9+/-316.2	186,1427,2687	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	292,2201,4009	TT,TC,CC		20.9186,22.3887,21.4165	,,,	677/739,1880/1942,653/715,829/891	1640793	2785,10219	2202	4300	6502	SO:0001819	synonymous_variant	124997	exon10			CGGCAGCGAGGTG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5640C>T	17.37:g.1640793C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	153	62	0.405229	NM_001163809	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	CCDS54062.1																																																																																			C|0.789;T|0.211	0.211	strong		0.597	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1640793	C	T	1640793	2	4	22	1	0	0	0	0	0	0	0	1	17327	767	27	1		1	WDR81	17	1640793	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3335	1640793	79554417	8473	13581										
SERPINF2	5345	hgsc.bcm.edu	37	chr17	1648502	1648502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgccatggagcccttgggcCggcaggtactggggagtgag	19	10	0	1	rs2070863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1648502C>T	ENST00000324015.3	+	3	174	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	SERPINF2_ENST00000450523.2_Missense_Mutation_p.R33W|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R33W	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	33			R -> W (in dbSNP:rs2070863). {ECO:0000269|PubMed:10583218}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GCCCTTGGGCCGGCAGGTACT	0.672													C|||	1197	0.239018	0.2201	0.2089	5008	,	,		9905	0.1855		0.1988	False		,,,				2504	0.3824				p.R33W		Atlas-SNP	.											.	SERPINF2	33	.	0			c.C97T	GRCh37	CM073337	SERPINF2	M	rs2070863	PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG	894,3468		90,714,1377	23	18	20		97,97,97	3	0	17	dbSNP_96	20	1705,6805		177,1351,2727	yes	missense,missense,missense	SERPINF2	NM_000934.3,NM_001165920.1,NM_001165921.1	101,101,101	267,2065,4104	TT,TC,CC		20.0353,20.4952,20.1911	probably-damaging,probably-damaging,probably-damaging	33/492,33/492,33/428	1648502	2599,10273	2181	4255	6436	SO:0001583	missense	5345	exon3			TTGGGCCGGCAGG	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.97C>T	17.37:g.1648502C>T	ENSP00000321853:p.Arg33Trp	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_000934	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	419	0.19184981684981686	99	0.20121951219512196	71	0.19613259668508287	103	0.18006993006993008	146	0.19261213720316622	C	11.31	1.601548	0.28534	0.204952	0.200353	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000453723;ENST00000382061	D;D;D;D;D	0.87809	-2.3;-1.97;-2.03;-1.72;-1.97	4.98	2.96	0.34315	.	1.515610	0.03304	N	0.189536	T	0.00356	0.0011	L	0.29908	0.895	0.80722	P	0.0	D;P	0.55172	0.97;0.946	B;B	0.42087	0.375;0.12	T	0.32295	-0.9912	9	0.52906	T	0.07	.	10.6516	0.45651	0.0:0.8237:0.0:0.1763	rs2070863;rs2234833;rs61057008;rs2070863	33;33	B4E1B7;P08697	.;A2AP_HUMAN	W	33	ENSP00000402286:R33W;ENSP00000321853:R33W;ENSP00000403877:R33W;ENSP00000402056:R33W;ENSP00000371493:R33W	ENSP00000321853:R33W	R	+	1	2	SERPINF2	1595252	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.793000	0.26944	0.235000	0.21160	-1.626000	0.00786	CGG	C|0.794;T|0.206	0.206	strong		0.672	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		T	1648502	C	T	1648502	3	4	22	1	0	0	0	0	1	0	0	0	14115	643	23	1	103	1	SERPINF2	17	1648502	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7709	1648502	79546708	8474	13582										
SERPINF2	5345	hgsc.bcm.edu	37	chr17	1657653	1657653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttcgtgggcagcgtgaGgaaccccaaccccagtgcac	11	16	1	1	rs1057335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1657653G>A	ENST00000324015.3	+	10	1378	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K	SERPINF2_ENST00000450523.2_Missense_Mutation_p.R370K|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R434K	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	434			R -> K (in dbSNP:rs1057335). {ECO:0000269|PubMed:10583218}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GGCAGCGTGAGGAACCCCAAC	0.622													G|||	1110	0.221645	0.2057	0.2003	5008	,	,		14969	0.1567		0.173	False		,,,				2504	0.3753				p.R434K		Atlas-SNP	.											.	SERPINF2	33	.	0			c.G1301A						PASS	.	G	LYS/ARG,LYS/ARG,LYS/ARG	932,3474	355.9+/-313.2	90,752,1361	129	114	119		1301,1301,1109	0.7	1	17	dbSNP_86	119	1547,7053	290.5+/-299.9	129,1289,2882	yes	missense,missense,missense	SERPINF2	NM_000934.3,NM_001165920.1,NM_001165921.1	26,26,26	219,2041,4243	AA,AG,GG		17.9884,21.153,19.0604	benign,benign,benign	434/492,434/492,370/428	1657653	2479,10527	2203	4300	6503	SO:0001583	missense	5345	exon10			GCGTGAGGAACCC	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1301G>A	17.37:g.1657653G>A	ENSP00000321853:p.Arg434Lys	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	157	79	0.503185	NM_000934	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	356	0.163003663003663	78	0.15853658536585366	67	0.1850828729281768	82	0.14335664335664336	129	0.17018469656992086	G	7.810	0.715570	0.15306	0.21153	0.179884	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	D;D;D	0.84298	-1.83;-1.83;-1.83	5.4	0.742	0.18341	Serpin domain (3);	0.502118	0.23367	N	0.048942	T	0.00144	0.0004	N	0.25789	0.76	0.40390	P	0.02046800000000004	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.03221	-1.1059	8	.	.	.	.	7.7076	0.28659	0.4774:0.0:0.5226:0.0	rs1057335;rs3174717;rs3744770;rs57227120;rs1057335	370;434	B4E1B7;P08697	.;A2AP_HUMAN	K	434;370;434	ENSP00000321853:R434K;ENSP00000403877:R370K;ENSP00000371493:R434K	.	R	+	2	0	SERPINF2	1604403	0.874000	0.30092	0.999000	0.59377	0.787000	0.44495	-0.017000	0.12590	0.281000	0.22233	-1.036000	0.02392	AGG	G|0.814;A|0.186	0.186	strong		0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		A	1657653	G	A	1657653	3	1	22	1	0	0	0	0	1	0	0	0	14115	1000	35	2	1345	2	SERPINF2	17	1657653	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9151	1657653	79537557	8475	13583										
SERPINF1	5176	hgsc.bcm.edu	37	chr17	1680002	1680002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaagctgaagctgagttaTgaaggcgaagtcaccaagtc	11	10	1	3	rs6828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1680002T>C	ENST00000254722.4	+	7	1126	c.963T>C	c.(961-963)taT>taC	p.Y321Y		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	321					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGCTGAGTTATGAAGGCGAAG	0.552													C|||	3890	0.776757	0.9198	0.7565	5008	,	,		20324	0.7758		0.7386	False		,,,				2504	0.638				p.Y321Y		Atlas-SNP	.											.	SERPINF1	31	.	0			c.T963C						PASS	.	C		3928,478	225.2+/-241.2	1746,436,21	111	101	104		963	-8.6	0.1	17	dbSNP_52	104	6088,2512	411.9+/-350.6	2162,1764,374	no	coding-synonymous	SERPINF1	NM_002615.5		3908,2200,395	CC,CT,TT		29.2093,10.8488,22.9894		321/419	1680002	10016,2990	2203	4300	6503	SO:0001819	synonymous_variant	5176	exon7			GAGTTATGAAGGC	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.963T>C	17.37:g.1680002T>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	138	58	0.42029	NM_002615	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	CCDS11012.1																																																																																			C|0.782;G|0.000;N|0.000;T|0.218	0.782	strong		0.552	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		C	1680002	T	C	1680002	2	2	22	1	0	0	0	0	0	0	0	1	14114	1471	51	2		2	SERPINF1	17	1680002	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22349	1680002	79515208	8476	13584										
SMYD4	114826	hgsc.bcm.edu	37	chr17	1686410	1686410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggcgaacctccaccacgTagagactcctctgtagatgg	11	13	1	2	rs9902398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1686410T>C	ENST00000305513.7	-	10	2347	c.2180A>G	c.(2179-2181)tAc>tGc	p.Y727C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	727			Y -> C (in dbSNP:rs9902398). {ECO:0000269|PubMed:11572484, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.				metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTCCACCACGTAGAGACTCCT	0.498													C|||	3890	0.776757	0.9198	0.7565	5008	,	,		16446	0.7758		0.7386	False		,,,				2504	0.638				p.Y727C		Atlas-SNP	.											.	SMYD4	50	.	0			c.A2180G						PASS	.	C	CYS/TYR	3925,481	226.2+/-241.8	1743,439,21	68	75	73		2180	-11.7	0	17	dbSNP_119	73	6085,2515	411.6+/-350.5	2159,1767,374	yes	missense	SMYD4	NM_052928.2	194	3902,2206,395	CC,CT,TT		29.2442,10.9169,23.0355	benign	727/805	1686410	10010,2996	2203	4300	6503	SO:0001583	missense	114826	exon10			ACCACGTAGAGAC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2180A>G	17.37:g.1686410T>C	ENSP00000304360:p.Tyr727Cys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	103	46	0.446602	NM_052928	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	CCDS11013.1	1735	0.7944139194139194	455	0.9247967479674797	256	0.7071823204419889	447	0.7814685314685315	577	0.7612137203166227	C	5.222	0.226433	0.09916	0.890831	0.707558	ENSG00000186532	ENST00000305513	T	0.62941	-0.01	5.84	-11.7	0.00046	Tetratricopeptide-like helical (1);	1.753970	0.02292	N	0.070408	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.19583	0.037	B	0.09377	0.004	T	0.47611	-0.9104	9	0.41790	T	0.15	10.414	12.5806	0.56388	0.0647:0.1443:0.069:0.722	rs9902398;rs17857050;rs57727381;rs9902398	727	Q8IYR2	SMYD4_HUMAN	C	727	ENSP00000304360:Y727C	ENSP00000304360:Y727C	Y	-	2	0	SMYD4	1633160	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.368000	0.00495	-2.928000	0.00302	-1.212000	0.01626	TAC	T|0.220;C|0.780	0.780	strong		0.498	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		C	1686410	T	C	1686410	3	2	22	1	0	0	0	0	1	0	0	0	14824	1638	57	2	242	2	SMYD4	17	1686410	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6408	1686410	79508800	8477	13585										
SMYD4	114826	hgsc.bcm.edu	37	chr17	1703982	1703982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaggatctacgcataagcCgatggatgatgaggcattgg	13	6	1	2	rs9913923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1703982C>T	ENST00000305513.7	-	5	873	c.706G>A	c.(706-708)Ggc>Agc	p.G236S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	236	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		G -> S (in dbSNP:rs9913923).				metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACGCATAAGCCGATGGATGAT	0.502													C|||	654	0.130591	0.2451	0.0735	5008	,	,		12317	0.0635		0.0805	False		,,,				2504	0.137				p.G236S		Atlas-SNP	.											.	SMYD4	50	.	0			c.G706A						PASS	.	C	SER/GLY	976,3430	367.1+/-318.1	107,762,1334	171	165	167		706	-6.1	0.2	17	dbSNP_119	167	828,7772	190.7+/-237.1	35,758,3507	yes	missense	SMYD4	NM_052928.2	56	142,1520,4841	TT,TC,CC		9.6279,22.1516,13.8705	benign	236/805	1703982	1804,11202	2203	4300	6503	SO:0001583	missense	114826	exon5			ATAAGCCGATGGA	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.706G>A	17.37:g.1703982C>T	ENSP00000304360:p.Gly236Ser	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	207	100	0.483092	NM_052928	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	CCDS11013.1	266	0.12179487179487179	134	0.27235772357723576	31	0.0856353591160221	48	0.08391608391608392	53	0.06992084432717678	C	0.014	-1.582771	0.00879	0.221516	0.096279	ENSG00000186532	ENST00000305513	T	0.08896	3.04	5.99	-6.05	0.02172	SET domain (1);	0.750916	0.14769	N	0.299484	T	0.00012	0.0000	N	0.02103	-0.685	0.58432	P	1.999999999946489E-6	B	0.12630	0.006	B	0.04013	0.001	T	0.34428	-0.9829	9	0.02654	T	1	-0.033	10.6048	0.45388	0.0:0.2418:0.5253:0.2329	rs9913923;rs52828951;rs56419688;rs59448424;rs9913923	236	Q8IYR2	SMYD4_HUMAN	S	236	ENSP00000304360:G236S	ENSP00000304360:G236S	G	-	1	0	SMYD4	1650732	0.002000	0.14202	0.177000	0.23020	0.001000	0.01503	-0.797000	0.04570	-0.727000	0.04888	-0.302000	0.09304	GGC	C|0.863;T|0.137	0.137	strong		0.502	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		T	1703982	C	T	1703982	3	4	22	1	0	0	0	0	1	0	0	0	14824	652	23	1	1736	1	SMYD4	17	1703982	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17572	1703982	79491228	8478	13586										
RPA1	6117	hgsc.bcm.edu	37	chr17	1782957	1782957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctacttgatggacacatcCgggaaggtggtgactgctac	12	9	1	2	rs2230930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1782957C>T	ENST00000254719.5	+	11	1166	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	352					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGGACACATCCGGGAAGGTGG	0.522								Nucleotide excision repair (NER)					c|||	1357	0.270966	0.2088	0.2392	5008	,	,		22185	0.4048		0.1779	False		,,,				2504	0.3354				p.S352S		Atlas-SNP	.											.	RPA1	48	.	0			c.C1056T						PASS	.	C		776,3630	313.8+/-293.3	73,630,1500	196	190	192		1056	-11.1	0.1	17	dbSNP_98	192	1342,7258	261.9+/-284.1	104,1134,3062	no	coding-synonymous	RPA1	NM_002945.3		177,1764,4562	TT,TC,CC		15.6047,17.6123,16.2848		352/617	1782957	2118,10888	2203	4300	6503	SO:0001819	synonymous_variant	6117	exon11			CACATCCGGGAAG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1056C>T	17.37:g.1782957C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	86	43	0.5	NM_002945	A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	CCDS11014.1																																																																																			C|0.802;N|0.000	.	strong		0.522	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		T	1782957	C	T	1782957	2	4	22	1	0	0	0	0	0	0	0	1	13536	639	23	1		1	RPA1	17	1782957	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78975	1782957	79412253	8479	13587										
RPA1	6117	hgsc.bcm.edu	37	chr17	1795180	1795180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgacttgtttccaggagtcTgctgaagctatccttggaca	11	9	1	2	rs2230931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1795180T>C	ENST00000254719.5	+	15	1715	c.1605T>C	c.(1603-1605)tcT>tcC	p.S535S		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	535					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TCCAGGAGTCTGCTGAAGCTA	0.323								Nucleotide excision repair (NER)					T|||	1472	0.29393	0.3654	0.304	5008	,	,		17399	0.252		0.1799	False		,,,				2504	0.3507				p.S535S		Atlas-SNP	.											.	RPA1	48	.	0			c.T1605C	GRCh37	CM995272	RPA1	M	rs2230931	PASS	.	T		1567,2839	490.8+/-361.9	273,1021,909	86	89	88		1605	2.2	1	17	dbSNP_98	88	1533,7067	288.6+/-298.9	135,1263,2902	no	coding-synonymous	RPA1	NM_002945.3		408,2284,3811	CC,CT,TT		17.8256,35.5651,23.8352		535/617	1795180	3100,9906	2203	4300	6503	SO:0001819	synonymous_variant	6117	exon15			GGAGTCTGCTGAA	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1605T>C	17.37:g.1795180T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	62	34	0.548387	NM_002945	A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	CCDS11014.1																																																																																			T|0.751;C|0.249	0.249	strong		0.323	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		C	1795180	T	C	1795180	2	2	22	1	0	0	0	0	0	0	0	1	13536	1567	55	3		3	RPA1	17	1795180	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12223	1795180	79400030	8480	13588										
RTN4RL1	146760	hgsc.bcm.edu	37	chr17	1840079	1840079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcttcctgtggccgggcCgggggccgtgcgggtggccc	20	15	0	0	rs143202933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1840079C>T	ENST00000331238.6	-	2	1516	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GTGGCCGGGCCGGGGGCCGTG	0.687													C|||	14	0.00279553	0.0	0.0014	5008	,	,		13824	0.0		0.007	False		,,,				2504	0.0061				p.R346Q	GBM(68;949 1139 14865 32798 38342)	Atlas-SNP	.											.	RTN4RL1	21	.	0			c.G1037A						PASS	.	C	GLN/ARG	2,3884		0,2,1941	16	19	18		1037	4.2	0.9	17	dbSNP_134	18	25,8203		0,25,4089	yes	missense	RTN4RL1	NM_178568.2	43	0,27,6030	TT,TC,CC		0.3038,0.0515,0.2229	benign	346/442	1840079	27,12087	1943	4114	6057	SO:0001583	missense	146760	exon2			CCGGGCCGGGGGC	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1037G>A	17.37:g.1840079C>T	ENSP00000330631:p.Arg346Gln	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	158	71	0.449367	NM_178568		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	6.698	0.497343	0.12762	5.15E-4	0.003038	ENSG00000185924	ENST00000331238	T	0.61980	0.06	4.17	4.17	0.49024	.	0.000000	0.33670	N	0.004666	T	0.57989	0.2091	L	0.54323	1.7	0.44042	D	0.996779	D	0.63880	0.993	P	0.53146	0.719	T	0.60601	-0.7231	10	0.12103	T	0.63	.	16.5187	0.84308	0.0:1.0:0.0:0.0	.	346	Q86UN2	R4RL1_HUMAN	Q	346	ENSP00000330631:R346Q	ENSP00000330631:R346Q	R	-	2	0	RTN4RL1	1786829	0.997000	0.39634	0.889000	0.34880	0.009000	0.06853	2.063000	0.41423	1.883000	0.54544	0.549000	0.68633	CGG	C|0.997;T|0.003	0.003	strong		0.687	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		T	1840079	C	T	1840079	3	4	22	1	0	0	0	0	1	0	0	0	13731	652	23	1	292	1	RTN4RL1	17	1840079	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44899	1840079	79355131	8481	13589										
DPH1	1801	hgsc.bcm.edu	37	chr17	1943525	1943525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccaggtatgacccatatAgcaaagtcctatccagagaa	7	10	0	2	rs200693145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:1943525A>G	ENST00000263083.6	+	8	823	c.778A>G	c.(778-780)Agc>Ggc	p.S260G	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Missense_Mutation_p.S180G|RP11-667K14.4_ENST00000572404.1_RNA	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	260					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGACCCATATAGCAAAGTCCT	0.557													A|||	6	0.00119808	0.0045	0.0	5008	,	,		19386	0.0		0.0	False		,,,				2504	0.0				p.S260G		Atlas-SNP	.											.	DPH1	32	.	0			c.A778G						PASS	.	A	GLY/SER	13,4155		0,13,2071	86	87	87		778	4	1	17		87	0,8422		0,0,4211	yes	missense	DPH1	NM_001383.3	56	0,13,6282	GG,GA,AA		0.0,0.3119,0.1033	benign	260/444	1943525	13,12577	2084	4211	6295	SO:0001583	missense	1801	exon8			CCATATAGCAAAG	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.778A>G	17.37:g.1943525A>G	ENSP00000263083:p.Ser260Gly	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	51	34	0.666667	NM_001383	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	CCDS42228.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	10.42	1.346368	0.24426	0.003119	0.0	ENSG00000108963	ENST00000263083	T	0.49720	0.77	5.15	4.03	0.46877	.	0.040549	0.85682	N	0.000000	T	0.48241	0.1489	M	0.74647	2.275	0.50467	D	0.999871	B;B;B	0.14805	0.011;0.011;0.003	B;B;B	0.23852	0.049;0.049;0.033	T	0.43410	-0.9393	10	0.46703	T	0.11	-13.6359	10.1501	0.42788	0.9183:0.0:0.0817:0.0	.	270;270;260	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	G	260	ENSP00000263083:S260G	ENSP00000263083:S260G	S	+	1	0	DPH1	1890275	1.000000	0.71417	0.990000	0.47175	0.054000	0.15201	4.836000	0.62789	0.748000	0.32831	0.459000	0.35465	AGC	A|1.000;G|0.000	0.000	strong		0.557	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		G	1943525	A	G	1943525	3	3	22	1	0	0	0	0	1	0	0	0	4719	420	15	3	808	3	DPH1	17	1943525	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	103446	1943525	79251685	8482	13590										
SMG6	23293	hgsc.bcm.edu	37	chr17	2091765	2091765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggccaagcccagagctgCggcttgttcctggatcacag	12	13	1	1	rs903160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2091765C>T	ENST00000263073.6	-	11	2964	c.2914G>A	c.(2914-2916)Gca>Aca	p.A972T	SMG6_ENST00000544865.1_Missense_Mutation_p.A941T|SMG6_ENST00000354901.4_Missense_Mutation_p.A64T|SMG6_ENST00000536871.2_Missense_Mutation_p.A64T	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	972			A -> T (in dbSNP:rs903160).		gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCAGAGCTGCGGCTTGTTCC	0.587													C|||	2022	0.403754	0.5499	0.3012	5008	,	,		20170	0.3264		0.3091	False		,,,				2504	0.456				p.A972T	Melanoma(59;28 1088 11621 25887 46638 50814)	Atlas-SNP	.											.	SMG6	97	.	0			c.G2914A						PASS	.	C	THR/ALA,THR/ALA	2166,2240	583.1+/-385.7	532,1102,569	63	57	59		2821,2914	2.5	1	17	dbSNP_86	59	2644,5956	426.6+/-355.3	424,1796,2080	yes	missense,missense	SMG6	NM_001170957.1,NM_017575.4	58,58	956,2898,2649	TT,TC,CC		30.7442,49.1602,36.9829	benign,benign	941/1389,972/1420	2091765	4810,8196	2203	4300	6503	SO:0001583	missense	23293	exon11			GAGCTGCGGCTTG	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2914G>A	17.37:g.2091765C>T	ENSP00000263073:p.Ala972Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	775	0.35485347985347987	268	0.5447154471544715	109	0.3011049723756906	158	0.2762237762237762	240	0.316622691292876	C	13.05	2.122399	0.37436	0.491602	0.307442	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.28069	1.63;1.63;1.63	4.64	2.5	0.30297	.	0.140304	0.46145	D	0.000318	T	0.00012	0.0000	N	0.02539	-0.55	0.34659	P	0.277548	B	0.02656	0.0	B	0.04013	0.001	T	0.46076	-0.9217	9	0.23891	T	0.37	-5.3127	4.3033	0.10935	0.0:0.5427:0.0:0.4573	rs903160;rs52800764;rs56856254;rs903160	972	Q86US8	EST1A_HUMAN	T	972;941;64	ENSP00000263073:A972T;ENSP00000443920:A941T;ENSP00000440283:A64T	ENSP00000263073:A972T	A	-	1	0	SMG6	2038515	0.996000	0.38824	0.997000	0.53966	0.992000	0.81027	1.791000	0.38744	1.176000	0.42840	0.561000	0.74099	GCA	C|0.626;T|0.374	0.374	strong		0.587	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2091765	C	T	2091765	3	4	22	1	0	0	0	0	1	0	0	0	14797	768	27	1	1381	1	SMG6	17	2091765	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148240	2091765	79103445	8483	13591										
SMG6	23293	hgsc.bcm.edu	37	chr17	2186100	2186100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttctttcctttccgccaCtggtcagggctcaggtcaaa	9	13	4	0	rs749240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2186100C>T	ENST00000263073.6	-	8	2552	c.2502G>A	c.(2500-2502)caG>caA	p.Q834Q	SMG6_ENST00000544865.1_Silent_p.Q803Q	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	834					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTTCCGCCACTGGTCAGGGC	0.502													T|||	2135	0.426318	0.6914	0.3573	5008	,	,		22864	0.2371		0.3618	False		,,,				2504	0.3783				p.Q834Q	Melanoma(59;28 1088 11621 25887 46638 50814)	Atlas-SNP	.											.	SMG6	97	.	0			c.G2502A						PASS	.	T	,	2686,1720	517.8+/-369.5	821,1044,338	126	119	121		2409,2502	-10.5	0.2	17	dbSNP_86	121	3004,5596	664.9+/-402.2	542,1920,1838	no	coding-synonymous,coding-synonymous	SMG6	NM_001170957.1,NM_017575.4	,	1363,2964,2176	TT,TC,CC		34.9302,39.0377,43.749	,	803/1389,834/1420	2186100	5690,7316	2203	4300	6503	SO:0001819	synonymous_variant	23293	exon8			CCGCCACTGGTCA	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2502G>A	17.37:g.2186100C>T		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	276	274	0.992754	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																			C|0.573;N|0.001	.	strong		0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2186100	C	T	2186100	2	4	22	1	0	0	0	0	0	0	0	1	14797	564	20	2		2	SMG6	17	2186100	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94335	2186100	79009110	8484	13592										
SMG6	23293	hgsc.bcm.edu	37	chr17	2203462	2203462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttctatctcagccctgtcTggtttattcgcaacttcctc	5	13	3	0	rs140746531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2203462T>C	ENST00000263073.6	-	2	635	c.585A>G	c.(583-585)ccA>ccG	p.P195P	SMG6_ENST00000544865.1_Silent_p.P164P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	195	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCCTGTCTGGTTTATTCG	0.512													T|||	3	0.000599042	0.0023	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.0				p.P195P	Melanoma(59;28 1088 11621 25887 46638 50814)	Atlas-SNP	.											.	SMG6	97	.	0			c.A585G						PASS	.	T	,	6,4400	12.9+/-30.5	0,6,2197	249	270	263		492,585	0.1	0.3	17	dbSNP_134	263	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SMG6	NM_001170957.1,NM_017575.4	,	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	,	164/1389,195/1420	2203462	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23293	exon2			CCTGTCTGGTTTA	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.585A>G	17.37:g.2203462T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	97	49	0.505155	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																			T|1.000;C|0.000	0.000	strong		0.512	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			C	2203462	T	C	2203462	2	2	22	1	0	0	0	0	0	0	0	1	14797	1567	55	3		3	SMG6	17	2203462	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17362	2203462	78991748	8485	13593										
MNT	4335	hgsc.bcm.edu	37	chr17	2290222	2290222	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgagtgtgctgactggGaaggagggcatggtgaccat	17	6	0	3	rs61733100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2290222G>A	ENST00000174618.4	-	6	2127	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	MNT_ENST00000575374.1_5'Flank|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	574					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGCTGACTGGGAAGGAGGGCA	0.662													G|||	169	0.033746	0.0613	0.0346	5008	,	,		13082	0.0		0.0527	False		,,,				2504	0.0112				p.F574F		Atlas-SNP	.											.	MNT	35	.	0			c.C1722T						PASS	.	G		251,4137		8,235,1951	26	21	23		1722	2.9	1	17	dbSNP_129	23	386,8210		4,378,3916	no	coding-synonymous	MNT	NM_020310.2		12,613,5867	AA,AG,GG		4.4905,5.7201,4.906		574/583	2290222	637,12347	2194	4298	6492	SO:0001819	synonymous_variant	4335	exon6			GACTGGGAAGGAG	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1722C>T	17.37:g.2290222G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	163	95	0.582822	NM_020310	A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	CCDS11018.1																																																																																			G|0.953;A|0.047	0.047	strong		0.662	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		A	2290222	G	A	2290222	2	1	22	1	0	0	0	0	0	0	0	1	9678	1165	41	2		2	MNT	17	2290222	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	86760	2290222	78904988	8486	13594										
MNT	4335	hgsc.bcm.edu	37	chr17	2298615	2298615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgccggcgggggagccggTggagacagaggcaggggtgg	25	7	0	2	rs7213000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2298615T>C	ENST00000174618.4	-	2	612	c.207A>G	c.(205-207)ccA>ccG	p.P69P	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	69					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ggggagccggtggagacagag	0.657													C|||	769	0.153554	0.2617	0.1037	5008	,	,		8879	0.1319		0.0954	False		,,,				2504	0.1247				p.P69P		Atlas-SNP	.											.	MNT	35	.	0			c.A207G						PASS	.	C		1044,3316		124,796,1260	22	29	26		207	-9.9	0	17	dbSNP_116	26	700,7834		40,620,3607	no	coding-synonymous	MNT	NM_020310.2		164,1416,4867	CC,CT,TT		8.2025,23.945,13.5257		69/583	2298615	1744,11150	2180	4267	6447	SO:0001819	synonymous_variant	4335	exon2			AGCCGGTGGAGAC	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.207A>G	17.37:g.2298615T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_020310	A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	CCDS11018.1																																																																																			T|0.869;C|0.131	0.131	strong		0.657	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		C	2298615	T	C	2298615	2	2	22	1	0	0	0	0	0	0	0	1	9678	1683	59	2		2	MNT	17	2298615	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8393	2298615	78896595	8487	13595										
KIAA0664	23277	hgsc.bcm.edu	37	chr17	2604698	2604698	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgtggacgcggtgatgctGacttgccggtcctcggctgt	16	11	0	2	rs115717445	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2604698G>A	ENST00000570628.2	-	6	852	c.747C>T	c.(745-747)gtC>gtT	p.V249V	CLUH_ENST00000435359.1_Silent_p.V249V|CLUH_ENST00000538975.1_Silent_p.V249V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	249					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGGTGATGCTGACTTGCCGGT	0.632													G|||	21	0.00419329	0.0159	0.0	5008	,	,		14270	0.0		0.0	False		,,,				2504	0.0				p.V249V		Atlas-SNP	.											.	.	.	.	0			c.C747T						PASS	.	G		48,4218		0,48,2085	27	34	32		747	1.3	1	17	dbSNP_132	32	0,8468		0,0,4234	yes	coding-synonymous	KIAA0664	NM_015229.3		0,48,6319	AA,AG,GG		0.0,1.1252,0.3769		249/1310	2604698	48,12686	2133	4234	6367	SO:0001819	synonymous_variant	23277	exon6			GATGCTGACTTGC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.747C>T	17.37:g.2604698G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	87	53	0.609195	NM_015229	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	CCDS45572.1																																																																																			G|0.993;A|0.007	0.007	strong		0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		A	2604698	G	A	2604698	2	1	22	1	0	0	0	0	0	0	0	1	8189	1277	45	2		2	KIAA0664	17	2604698	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	306083	2604698	78590512	8488	13596										
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2911352	2911352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccttcacgatgagctccaCgcccacacacaggccatgct	7	17	1	1	rs36016465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2911352C>T	ENST00000254695.8	+	17	1497	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	RAP1GAP2_ENST00000540393.2_Silent_p.H450H|RAP1GAP2_ENST00000542807.1_Silent_p.H469H|RAP1GAP2_ENST00000366401.4_Silent_p.H454H	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	469					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGAGCTCCACGCCCACACAC	0.597													C|||	77	0.0153754	0.056	0.0029	5008	,	,		18125	0.0		0.001	False		,,,				2504	0.0				p.H469H		Atlas-SNP	.											.	RAP1GAP2	90	.	0			c.C1407T						PASS	.	C	,	139,3993		2,135,1929	63	69	67		1362,1407	-9.6	0	17	dbSNP_126	67	2,8384		0,2,4191	no	coding-synonymous,coding-synonymous	RAP1GAP2	NM_001100398.1,NM_015085.4	,	2,137,6120	TT,TC,CC		0.0238,3.364,1.1264	,	454/716,469/731	2911352	141,12377	2066	4193	6259	SO:0001819	synonymous_variant	23108	exon17			GCTCCACGCCCAC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1407C>T	17.37:g.2911352C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	128	72	0.5625	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																			C|0.988;T|0.012	0.012	strong		0.597	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			T	2911352	C	T	2911352	2	4	22	1	0	0	0	0	0	0	0	1	13038	535	19	1		1	RAP1GAP2	17	2911352	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	306654	2911352	78283858	8489	13597										
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2929392	2929392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatccaatcccagctctccGgaaatctgccccaacaagga	6	16	3	0	rs55904912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2929392G>A	ENST00000254695.8	+	20	1932	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	RAP1GAP2_ENST00000540393.2_Silent_p.P595P|RAP1GAP2_ENST00000366401.4_Silent_p.P599P|RAP1GAP2_ENST00000542807.1_Silent_p.P614P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	614	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P614P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGCTCTCCGGAAATCTGCC	0.577													G|||	2146	0.428514	0.2451	0.4986	5008	,	,		16508	0.5466		0.4066	False		,,,				2504	0.5276				p.P614P		Atlas-SNP	.											RAP1GAP2_ENST00000254695,NS,carcinoma,0,2	RAP1GAP2	90	2	1	Substitution - coding silent(1)	stomach(1)	c.G1842A						scavenged	.	G	,	1082,2966		152,778,1094	45	48	47		1797,1842	-7.4	1	17	dbSNP_129	47	3415,4945		687,2041,1452	no	coding-synonymous,coding-synonymous	RAP1GAP2	NM_001100398.1,NM_015085.4	,	839,2819,2546	AA,AG,GG		40.8493,26.7292,36.2427	,	599/716,614/731	2929392	4497,7911	2024	4180	6204	SO:0001819	synonymous_variant	23108	exon20			CTCTCCGGAAATC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1842G>A	17.37:g.2929392G>A		Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	269	123	0.457249	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																			G|0.579;A|0.421	0.421	strong		0.577	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2929392	G	A	2929392	2	1	22	1	0	0	0	0	0	0	0	1	13038	1103	39	1		1	RAP1GAP2	17	2929392	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18040	2929392	78265818	8490	13598										
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2930339	2930339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggggcagctgccaccccGatcatcatgagccggagtcc	13	15	2	1	rs4790115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2930339G>A	ENST00000254695.8	+	22	2172	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	RAP1GAP2_ENST00000366401.4_Silent_p.P679P|RAP1GAP2_ENST00000540393.2_Silent_p.P675P|RAP1GAP2_ENST00000542807.1_Silent_p.P694P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	694	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTGCCACCCCGATCATCATGA	0.657													G|||	2140	0.427316	0.2428	0.4942	5008	,	,		17712	0.5486		0.4066	False		,,,				2504	0.5256				p.P694P		Atlas-SNP	.											RAP1GAP2_ENST00000254695,colon,carcinoma,0,2	RAP1GAP2	90	2	0			c.G2082A						PASS	.	G	,	1208,3184		180,848,1168	22	27	25		2037,2082	-1.5	1	17	dbSNP_111	25	3488,5074		722,2044,1515	no	coding-synonymous,coding-synonymous	RAP1GAP2	NM_001100398.1,NM_015085.4	,	902,2892,2683	AA,AG,GG		40.7381,27.5046,36.2514	,	679/716,694/731	2930339	4696,8258	2196	4281	6477	SO:0001819	synonymous_variant	23108	exon22			CACCCCGATCATC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.2082G>A	17.37:g.2930339G>A		Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	306	153	0.5	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																			G|0.567;A|0.433	0.433	strong		0.657	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2930339	G	A	2930339	2	1	22	1	0	0	0	0	0	0	0	1	13038	1045	37	1		1	RAP1GAP2	17	2930339	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	947	2930339	78264871	8491	13599										
OR1D2	4991	hgsc.bcm.edu	37	chr17	2995572	2995572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccaaatgggaggcacagGtggagaaggctttgtatttc	13	8	0	1	rs4300683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2995572G>A	ENST00000331459.1	-	1	718	c.719C>T	c.(718-720)aCc>aTc	p.T240I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	240			T -> I (in dbSNP:rs4300683).		cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGAGGCACAGGTGGAGAAGGC	0.468													.|||	766	0.152955	0.3835	0.1945	5008	,	,		23660	0.0258		0.0567	False		,,,				2504	0.0419				p.T240I		Atlas-SNP	.											.	OR1D2	39	.	0			c.C719T						PASS	.	G	ILE/THR	1365,3041	452.8+/-350.1	211,943,1049	102	103	103		719	3.2	1	17	dbSNP_111	103	554,8046	150.9+/-205.7	19,516,3765	yes	missense	OR1D2	NM_002548.2	89	230,1459,4814	AA,AG,GG		6.4419,30.9805,14.7547	probably-damaging	240/313	2995572	1919,11087	2203	4300	6503	SO:0001583	missense	4991	exon1			GCACAGGTGGAGA	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.719C>T	17.37:g.2995572G>A	ENSP00000327585:p.Thr240Ile	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	157	69	0.43949	NM_002548	Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	CCDS11019.1	343	0.15705128205128205	218	0.44308943089430897	64	0.17679558011049723	13	0.022727272727272728	48	0.0633245382585752	g	15.69	2.908840	0.52439	0.309805	0.064419	ENSG00000184166	ENST00000331459	T	0.42513	0.97	3.21	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	M	0.90198	3.095	0.26668	P	0.9717891	D	0.89917	1.0	D	0.97110	1.0	T	0.39761	-0.9598	8	0.72032	D	0.01	.	13.0776	0.59095	0.0:0.0:1.0:0.0	rs4300683;rs52819117;rs60483420;rs4300683	240	P34982	OR1D2_HUMAN	I	240	ENSP00000327585:T240I	ENSP00000327585:T240I	T	-	2	0	OR1D2	2942322	1.000000	0.71417	0.998000	0.56505	0.404000	0.30871	5.143000	0.64826	1.606000	0.50161	0.543000	0.68304	ACC	G|0.842;A|0.158	0.158	strong		0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		A	2995572	G	A	2995572	3	1	22	1	0	0	0	0	1	0	0	0	10953	1261	44	2	222	2	OR1D2	17	2995572	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	65233	2995572	78199638	8492	13600										
OR1D2	4991	hgsc.bcm.edu	37	chr17	2995994	2995994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaccaggaagtagagctgTgtcagacaccctgcatagga	13	9	1	3	rs769424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:2995994T>C	ENST00000331459.1	-	1	296	c.297A>G	c.(295-297)acA>acG	p.T99T		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	99					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGTAGAGCTGTGTCAGACACC	0.537													.|||	1297	0.258986	0.618	0.2435	5008	,	,		22867	0.0317		0.1233	False		,,,				2504	0.1585				p.T99T		Atlas-SNP	.											.	OR1D2	39	.	0			c.A297G						PASS	.	C		2297,2109		604,1089,510	173	178	176		297	-6	0.9	17	dbSNP_86	176	1166,7434		73,1020,3207	no	coding-synonymous	OR1D2	NM_002548.2		677,2109,3717	CC,CT,TT		13.5581,47.8665,26.6262		99/313	2995994	3463,9543	2203	4300	6503	SO:0001819	synonymous_variant	4991	exon1			GAGCTGTGTCAGA	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.297A>G	17.37:g.2995994T>C		Somatic	490	1	0.00204082		WXS	Illumina HiSeq	Phase_I	532	263	0.494361	NM_002548	Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	CCDS11019.1																																																																																			T|0.754;C|0.246	0.246	strong		0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		C	2995994	T	C	2995994	2	2	22	1	0	0	0	0	0	0	0	1	10953	1683	59	2		2	OR1D2	17	2995994	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	422	2995994	78199216	8493	13601										
OR1A1	8383	hgsc.bcm.edu	37	chr17	3119767	3119767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgaccccaatgttaaatCctttcatctacagtctgaga	6	11	3	2	rs769427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3119767C>T	ENST00000304094.1	+	1	853	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	285			P -> S (in dbSNP:rs769427). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGTTAAATCCTTTCATCTA	0.468													C|||	1714	0.342252	0.3343	0.33	5008	,	,		20427	0.1438		0.492	False		,,,				2504	0.4121				p.P285S		Atlas-SNP	.											OR1A1,NS,carcinoma,0,1	OR1A1	54	1	1	Substitution - Missense(1)	stomach(1)	c.C853T						PASS	.	C	SER/PRO	1601,2805	494.8+/-363.1	280,1041,882	127	119	122		853	4.1	1	17	dbSNP_86	122	4240,4360	571.6+/-389.6	1053,2134,1113	yes	missense	OR1A1	NM_014565.2	74	1333,3175,1995	TT,TC,CC		49.3023,36.3368,44.91	possibly-damaging	285/310	3119767	5841,7165	2203	4300	6503	SO:0001583	missense	8383	exon1			TTAAATCCTTTCA	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.853C>T	17.37:g.3119767C>T	ENSP00000305207:p.Pro285Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_014565	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	741	0.3392857142857143	176	0.35772357723577236	115	0.31767955801104975	81	0.14160839160839161	369	0.4868073878627968	C	20.4	3.976185	0.74360	0.363368	0.493023	ENSG00000172146	ENST00000304094	T	0.63417	-0.04	5.05	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000106	T	0.00012	0.0000	H	0.95187	3.635	0.24492	P	0.99429051	D	0.61697	0.99	P	0.47299	0.543	T	0.30387	-0.9980	9	0.87932	D	0	.	13.6842	0.62506	0.1558:0.8442:0.0:0.0	rs769427;rs17762753;rs57027071;rs769427	285	Q9P1Q5	OR1A1_HUMAN	S	285	ENSP00000305207:P285S	ENSP00000305207:P285S	P	+	1	0	OR1A1	3066517	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.333000	0.65917	1.350000	0.45770	0.511000	0.50034	CCT	C|0.608;T|0.392	0.392	strong		0.468	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		T	3119767	C	T	3119767	3	4	22	1	0	0	0	0	1	0	0	0	10949	855	30	2	855	2	OR1A1	17	3119767	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123773	3119767	78075443	8494	13602										
OR3A2	4995	hgsc.bcm.edu	37	chr17	3181677	3181677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaggtcacagtagaagtGattgacctcattggggccac	14	8	2	3	rs73977611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3181677G>C	ENST00000408891.2	-	1	591	c.553C>G	c.(553-555)Cac>Gac	p.H185D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	185					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CAGTAGAAGTGATTGACCTCA	0.562													G|||	81	0.0161741	0.0575	0.0072	5008	,	,		21392	0.0		0.0	False		,,,				2504	0.0				p.H185D	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	Atlas-SNP	.											.	OR3A2	36	.	0			c.C553G						PASS	.	G	ASP/HIS	188,4216	120.8+/-158.4	4,180,2018	71	59	63		553	2.8	1	17	dbSNP_130	63	1,8559		0,1,4279	no	missense	OR3A2	NM_002551.3	81	4,181,6297	CC,CG,GG		0.0117,4.2688,1.4579	probably-damaging	185/322	3181677	189,12775	2202	4280	6482	SO:0001583	missense	4995	exon1			AGAAGTGATTGAC	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.553C>G	17.37:g.3181677G>C	ENSP00000386180:p.His185Asp	Somatic	274	1	0.00364964		WXS	Illumina HiSeq	Phase_I	295	140	0.474576	NM_002551	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	28	0.01282051282051282	24	0.04878048780487805	4	0.011049723756906077	0	0.0	0	0.0	G	15.06	2.721441	0.48728	0.042688	1.17E-4	ENSG00000221882	ENST00000408891	T	0.00174	8.62	4.9	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000069	T	0.00144	0.0004	M	0.90425	3.115	0.31106	N	0.710527	D	0.59357	0.985	D	0.68039	0.955	T	0.03335	-1.1047	10	0.87932	D	0	-23.7752	13.1298	0.59375	0.0:0.0:0.7099:0.2901	.	185	P47893	OR3A2_HUMAN	D	185	ENSP00000386180:H185D	ENSP00000386180:H185D	H	-	1	0	OR3A2	3128427	0.630000	0.27155	0.983000	0.44433	0.377000	0.30045	1.081000	0.30791	0.745000	0.32763	0.561000	0.74099	CAC	G|0.991;C|0.009	0.009	strong		0.562	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			C	3181677	G	C	3181677	3	2	22	1	0	0	0	0	1	0	0	0	11038	1290	45	4	416	4	OR3A2	17	3181677	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61910	3181677	78013533	8495	13603										
OR3A1	4994	hgsc.bcm.edu	37	chr17	3195603	3195603	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacagggaactgcacgctTgcgggacaggagacgactca	13	13	1	1	rs7218125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3195603T>A	ENST00000323404.1	-	1	273	c.274A>T	c.(274-276)Aag>Tag	p.K92*	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	92					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACTGCACGCTTGCGGGACAGG	0.567													.|||	111	0.0221645	0.0779	0.0101	5008	,	,		18657	0.0		0.001	False		,,,				2504	0.0				p.K92X	GBM(20;287 516 18743 28660 36594)	Atlas-SNP	.											.	OR3A1	46	.	0			c.A274T						PASS	.	T	stop/LYS	278,4128	155.5+/-188.7	10,258,1935	82	67	72		274	3	0.1	17	dbSNP_116	72	3,8597	2.2+/-6.3	0,3,4297	yes	stop-gained	OR3A1	NM_002550.2		10,261,6232	AA,AT,TT		0.0349,6.3096,2.1605		92/316	3195603	281,12725	2203	4300	6503	SO:0001587	stop_gained	4994	exon1			CACGCTTGCGGGA	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.274A>T	17.37:g.3195603T>A	ENSP00000313803:p.Lys92*	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	277	148	0.534296	NM_002550	Q4VB06|Q6IFM4	Nonsense_Mutation	SNP	ENST00000323404.1	37	CCDS11023.1	37	0.01694139194139194	31	0.06300813008130081	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	10.77	1.444920	0.25987	0.063096	3.49E-4	ENSG00000180090	ENST00000323404	.	.	.	5.31	3.01	0.34805	.	0.663946	0.13864	N	0.357451	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6046	7.6409	0.28292	0.0:0.0758:0.1405:0.7836	rs7218125;rs16952824;rs7218125	.	.	.	X	92	.	ENSP00000313803:K92X	K	-	1	0	OR3A1	3142353	0.000000	0.05858	0.097000	0.21041	0.002000	0.02628	0.063000	0.14410	1.003000	0.39130	0.528000	0.53228	AAG	T|0.972;A|0.028	0.028	strong		0.567	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			A	3195603	T	A	3195603	4	1	22	1	0	0	0	0	0	1	0	0	11037	1821	63	5	677	5	OR3A1	17	3195603	Nonsense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13926	3195603	77999607	8496	13604										
OR1E1	8387	hgsc.bcm.edu	37	chr17	3301246	3301246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgtaacatggcatggaaGgtggtcagcacccaggacag	15	8	1	0	rs11078447	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3301246G>A	ENST00000322608.2	-	1	458	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	153					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						TGGCATGGAAGGTGGTCAGCA	0.542													G|||	110	0.0219649	0.0772	0.0115	5008	,	,		22193	0.0		0.0	False		,,,				2504	0.0				p.T153T		Atlas-SNP	.											.	OR1E1	37	.	0			c.C459T						PASS	.	G		240,4166	140.8+/-176.2	5,230,1968	77	61	66		459	-9.4	0	17	dbSNP_120	66	2,8598		0,2,4298	no	coding-synonymous	OR1E1	NM_003553.2		5,232,6266	AA,AG,GG		0.0233,5.4471,1.8607		153/315	3301246	242,12764	2203	4300	6503	SO:0001819	synonymous_variant	8387	exon1			ATGGAAGGTGGTC	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.459C>T	17.37:g.3301246G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	243	121	0.497942	NM_003553	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	ENST00000322608.2	37	CCDS11024.1																																																																																			G|0.983;A|0.017	0.017	strong		0.542	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		A	3301246	G	A	3301246	2	1	22	1	0	0	0	0	0	0	0	1	10954	987	35	2		2	OR1E1	17	3301246	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	105643	3301246	77893964	8497	13605										
OR1E1	8387	hgsc.bcm.edu	37	chr17	3301293	3301293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggcgagacagagcatggGgctcatgatggcggtgtagt	18	7	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3301293G>A	ENST00000322608.2	-	1	411	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						CAGAGCATGGGGCTCATGATG	0.562																																					p.P138S		Atlas-SNP	.											OR1E1,caecum,carcinoma,+1,1	OR1E1	37	1	0			c.C412T						scavenged	.						96	75	82					17																	3301293		2203	4300	6503	SO:0001583	missense	8387	exon1			GCATGGGGCTCAT	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.412C>T	17.37:g.3301293G>A	ENSP00000313384:p.Pro138Ser	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	233	5	0.0214592	NM_003553	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158881	0.21454	.	.	ENSG00000180016	ENST00000322608	T	0.00584	6.4	4.69	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00608	0.0020	L	0.41415	1.275	0.26256	N	0.97866	B	0.23937	0.094	B	0.23419	0.046	T	0.45760	-0.9239	10	0.59425	D	0.04	.	7.9649	0.30094	0.0887:0.0:0.7519:0.1594	.	138	P30953	OR1E1_HUMAN	S	138	ENSP00000313384:P138S	ENSP00000313384:P138S	P	-	1	0	OR1E1	3248043	0.000000	0.05858	1.000000	0.80357	0.506000	0.33950	-0.760000	0.04756	2.449000	0.82847	0.591000	0.81541	CCC	.	.	none		0.562	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		A	3301293	G	A	3301293	3	1	22	1	0	0	0	0	1	0	0	0	10954	1232	43	2	536	2	OR1E1	17	3301293	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47	3301293	77893917	8498	13606										
OR1E2	8388	hgsc.bcm.edu	37	chr17	3336697	3336697	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggagagacagagcatggGgctcatgatggcggtgtagt					rs77501388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3336697G>A	ENST00000248384.1	-	1	438	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	147					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						CAGAGCATGGGGCTCATGATG	0.567													G|||	120	0.0239617	0.0885	0.0043	5008	,	,		19503	0.0		0.0	False		,,,				2504	0.0				p.P147S		Atlas-SNP	.											OR1E2,right_upper_lobe,carcinoma,+1,1	OR1E2	25	1	0			c.C439T						PASS	.																																			SO:0001583	missense	8388	exon1			GCATGGGGCTCAT	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.439C>T	17.37:g.3336697G>A	ENSP00000248384:p.Pro147Ser	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	230	98	0.426087	NM_003554	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	CCDS11026.1	45	0.020604395604395604	45	0.09146341463414634	0	0.0	0	0.0	0	0.0	G	9.675	1.147752	0.21288	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.05649	3.41	5.47	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.00144	0.0004	N	0.08118	0	0.09310	N	0.999998	B	0.31077	0.307	B	0.27608	0.081	T	0.45862	-0.9232	10	0.62326	D	0.03	.	6.8412	0.23963	0.0829:0.0:0.6588:0.2582	.	147	P47887	OR1E2_HUMAN	S	147;137	ENSP00000248384:P147S	ENSP00000248384:P147S	P	-	1	0	OR1E2	3283447	0.000000	0.05858	0.943000	0.38184	0.313000	0.28021	-0.200000	0.09478	1.550000	0.49438	0.650000	0.86243	CCC	G|0.987;A|0.013	0.013	strong		0.567	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			A	3336697	G	A	3336697	3	1	22	1	0	0	0	0	1	0	0	0	10955	1232	43	2	535	2	OR1E2	17	3336697	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35404	3336697	77858513	8499	13607	282	2								
OR1E2	8388	hgsc.bcm.edu	37	chr17	3336699	3336699	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagagacagagcatggggCtcatgatggcggtgtagtgc					rs78339092	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3336699C>G	ENST00000248384.1	-	1	436	c.437G>C	c.(436-438)aGc>aCc	p.S146T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	146					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						GAGCATGGGGCTCATGATGGC	0.562													C|||	120	0.0239617	0.0885	0.0043	5008	,	,		19338	0.0		0.0	False		,,,				2504	0.0				p.S146T		Atlas-SNP	.											OR1E2,right_upper_lobe,carcinoma,+1,1	OR1E2	25	1	0			c.G437C						PASS	.																																			SO:0001583	missense	8388	exon1			ATGGGGCTCATGA	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.437G>C	17.37:g.3336699C>G	ENSP00000248384:p.Ser146Thr	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	228	96	0.421053	NM_003554	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	CCDS11026.1	45	0.020604395604395604	45	0.09146341463414634	0	0.0	0	0.0	0	0.0	C	7.609	0.674467	0.14841	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.03717	3.83	5.47	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.148993	0.48286	N	0.000187	T	0.00109	0.0003	N	0.08118	0	0.25052	N	0.99113	B	0.21225	0.053	B	0.26693	0.072	T	0.49495	-0.8934	10	0.33940	T	0.23	.	9.9959	0.41898	0.0:0.7793:0.0:0.2207	.	146	P47887	OR1E2_HUMAN	T	146;136	ENSP00000248384:S146T	ENSP00000248384:S146T	S	-	2	0	OR1E2	3283449	0.000000	0.05858	0.958000	0.39756	0.329000	0.28539	-0.448000	0.06820	0.439000	0.26476	0.650000	0.86243	AGC	C|0.987;G|0.013	0.013	strong		0.562	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			G	3336699	C	G	3336699	3	3	22	1	0	0	0	0	1	0	0	0	10955	797	28	4	537	4	OR1E2	17	3336699	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	3336699	77858511	8500	13608	282	2								
OR1E2	8388	hgsc.bcm.edu	37	chr17	3336723	3336723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatggcggtgtagtgcaggAggaagcagatggcggtgtag	20	4	0	2	rs73296096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3336723A>G	ENST00000248384.1	-	1	412	c.413T>C	c.(412-414)cTc>cCc	p.L138P		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	138					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						GTAGTGCAGGAGGAAGCAGAT	0.552													G|||	153	0.0305511	0.1112	0.0072	5008	,	,		19727	0.0		0.001	False		,,,				2504	0.0				p.L138P		Atlas-SNP	.											.	OR1E2	25	.	0			c.T413C						PASS	.	-	PRO/LEU	356,4050	793.7+/-415.2	24,308,1871	90	75	80		413		1	17	dbSNP_130	80	2,8598	819.2+/-406.8	0,2,4298	yes	missense	OR1E2	NM_003554.1	98	24,310,6169	GG,GA,AA		0.0233,8.0799,2.7526		138/324	3336723	358,12648	2203	4300	6503	SO:0001583	missense	8388	exon1			TGCAGGAGGAAGC	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.413T>C	17.37:g.3336723A>G	ENSP00000248384:p.Leu138Pro	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	223	98	0.439462	NM_003554	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	CCDS11026.1	49	0.022435897435897436	49	0.09959349593495935	0	0.0	0	0.0	0	0.0	G	2.920	-0.223476	0.06061	0.080799	2.33E-4	ENSG00000127780	ENST00000248384	T	0.02890	4.12	.	.	.	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.25307	N	0.989232	.	.	.	.	.	.	T	0.50825	-0.8782	5	0.72032	D	0.01	.	.	.	.	.	138	P47887	OR1E2_HUMAN	P	138	ENSP00000248384:L138P	ENSP00000248384:L138P	L	-	2	0	OR1E2	3283473	.	.	0.977000	0.42913	0.222000	0.24845	.	.	0.000000	0.14550	0.000000	0.15137	CTC	A|0.975;G|0.025	0.025	strong		0.552	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			G	3336723	A	G	3336723	3	3	22	1	0	0	0	0	1	0	0	0	10955	304	11	3	561	3	OR1E2	17	3336723	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24	3336723	77858487	8501	13609										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3343519	3343519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcctggaaagttttttgTtcagaaacagacgccggtct	10	8	2	2	rs17822627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3343519T>C	ENST00000573128.1	-	9	1497	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	SPATA22_ENST00000572969.1_Silent_p.E338E|SPATA22_ENST00000397168.3_Silent_p.E338E|SPATA22_ENST00000541913.1_Silent_p.E322E|SPATA22_ENST00000355380.4_Silent_p.E295E|SPATA22_ENST00000575375.1_Silent_p.E338E			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	338					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AAGTTTTTTGTTCAGAAACAG	0.368													T|||	1319	0.263379	0.2095	0.3501	5008	,	,		15510	0.4147		0.1809	False		,,,				2504	0.2035				p.E338E		Atlas-SNP	.											.	SPATA22	49	.	0			c.A1014G						PASS	.	T	,,,,,	1048,3358	375.9+/-321.8	128,792,1283	66	73	70		1014,885,1014,1014,,1014	3.5	1	17	dbSNP_123	70	1585,7015	294.4+/-301.9	145,1295,2860	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	,,,,,	273,2087,4143	CC,CT,TT		18.4302,23.7857,20.2445	,,,,,	338/364,295/321,338/364,338/364,,338/364	3343519	2633,10373	2203	4300	6503	SO:0001819	synonymous_variant	84690	exon9			TTTTTGTTCAGAA	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1014A>G	17.37:g.3343519T>C		Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	318	159	0.5	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Silent	SNP	ENST00000573128.1	37	CCDS11027.1																																																																																			T|0.774;C|0.226	0.226	strong		0.368	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		C	3343519	T	C	3343519	2	2	22	1	0	0	0	0	0	0	0	1	15007	1722	60	2		2	SPATA22	17	3343519	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6796	3343519	77851691	8502	13610										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3352294	3352294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataagttaggaggttcaggtAttcttaattgtttttgttgt	10	2	2	0	rs1488689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3352294A>G	ENST00000573128.1	-	6	962	c.479T>C	c.(478-480)aTa>aCa	p.I160T	SPATA22_ENST00000572969.1_Missense_Mutation_p.I160T|SPATA22_ENST00000397168.3_Missense_Mutation_p.I160T|SPATA22_ENST00000541913.1_Missense_Mutation_p.I144T|SPATA22_ENST00000268981.5_Missense_Mutation_p.I160T|SPATA22_ENST00000355380.4_Missense_Mutation_p.I117T|SPATA22_ENST00000575375.1_Missense_Mutation_p.I160T			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	160			I -> T (in dbSNP:rs1488689). {ECO:0000269|PubMed:15489334}.		fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGGTTCAGGTATTCTTAATTG	0.383													a|||	1337	0.266973	0.2209	0.3501	5008	,	,		15352	0.4187		0.1809	False		,,,				2504	0.2025				p.I160T		Atlas-SNP	.											.	SPATA22	49	.	0			c.T479C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	1088,3318	393.5+/-328.9	136,816,1251	268	258	261		479,350,479,479,479,479	2.8	0	17	dbSNP_88	261	1586,7014	296.9+/-303.1	144,1298,2858	yes	missense,missense,missense,missense,missense,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	89,89,89,89,89,89	280,2114,4109	GG,GA,AA		18.4419,24.6936,20.5597	benign,benign,benign,benign,benign,benign	160/364,117/321,160/364,160/364,160/270,160/364	3352294	2674,10332	2203	4300	6503	SO:0001583	missense	84690	exon6			TCAGGTATTCTTA	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.479T>C	17.37:g.3352294A>G	ENSP00000459580:p.Ile160Thr	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	273	135	0.494505	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	593	0.2715201465201465	108	0.21951219512195122	127	0.35082872928176795	219	0.38286713286713286	139	0.18337730870712401	a	0.254	-1.004215	0.02112	0.246936	0.184419	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.17370	2.28;2.3;2.31;2.29	3.87	2.79	0.32731	.	1.568880	0.03690	N	0.246975	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B	0.13145	0.001;0.0;0.007;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.003	T	0.44651	-0.9314	9	0.19590	T	0.45	-1.2633	6.7352	0.23405	0.8841:0.0:0.1159:0.0	rs1488689;rs17845887;rs17858862;rs61019090;rs1488689	144;160;117;160	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	T	117;160;160;144	ENSP00000347541:I117T;ENSP00000380354:I160T;ENSP00000268981:I160T;ENSP00000441920:I144T	ENSP00000268981:I160T	I	-	2	0	SPATA22	3299044	0.025000	0.19082	0.003000	0.11579	0.010000	0.07245	0.736000	0.26130	0.851000	0.35264	0.454000	0.30748	ATA	A|0.769;G|0.231	0.231	strong		0.383	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		G	3352294	A	G	3352294	3	3	22	1	0	0	0	0	1	0	0	0	15007	449	16	2	628	2	SPATA22	17	3352294	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8775	3352294	77842916	8503	13611										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3352331	3352331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttgagctcccgaactcaCtggacaagaattttttccat	7	10	1	2	rs1488690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3352331C>T	ENST00000573128.1	-	6	925	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	SPATA22_ENST00000575375.1_Missense_Mutation_p.V148M|SPATA22_ENST00000355380.4_Missense_Mutation_p.V105M|SPATA22_ENST00000541913.1_Missense_Mutation_p.V132M|SPATA22_ENST00000268981.5_Missense_Mutation_p.V148M|SPATA22_ENST00000572969.1_Missense_Mutation_p.V148M|SPATA22_ENST00000397168.3_Missense_Mutation_p.V148M			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	148			V -> M (in dbSNP:rs1488690). {ECO:0000269|PubMed:15489334}.		fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CCCGAACTCACTGGACAAGAA	0.353													c|||	1337	0.266973	0.2209	0.3501	5008	,	,		15865	0.4187		0.1809	False		,,,				2504	0.2025				p.V148M		Atlas-SNP	.											.	SPATA22	49	.	0			c.G442A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1087,3319	392.8+/-328.6	136,815,1252	216	208	211		442,313,442,442,442,442	-9.6	0	17	dbSNP_88	211	1585,7015	296.6+/-303.0	144,1297,2859	yes	missense,missense,missense,missense,missense,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	21,21,21,21,21,21	280,2112,4111	TT,TC,CC		18.4302,24.6709,20.5444	benign,benign,benign,benign,benign,benign	148/364,105/321,148/364,148/364,148/270,148/364	3352331	2672,10334	2203	4300	6503	SO:0001583	missense	84690	exon6			AACTCACTGGACA	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.442G>A	17.37:g.3352331C>T	ENSP00000459580:p.Val148Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	231	108	0.467532	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	593	0.2715201465201465	108	0.21951219512195122	127	0.35082872928176795	219	0.38286713286713286	139	0.18337730870712401	c	4.615	0.114227	0.08831	0.246709	0.184302	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.18960	2.19;2.2;2.18;2.19	5.07	-9.61	0.00550	.	1.064140	0.07349	N	0.882007	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B	0.12013	0.002;0.001;0.005;0.001	B;B;B;B	0.10450	0.005;0.003;0.005;0.002	T	0.36768	-0.9734	9	0.26408	T	0.33	-26.657	15.7227	0.77724	0.0:0.2877:0.0:0.7123	rs1488690;rs17822669;rs17852662;rs52823975;rs57028597;rs1488690	132;148;105;148	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	M	105;148;148;132	ENSP00000347541:V105M;ENSP00000380354:V148M;ENSP00000268981:V148M;ENSP00000441920:V132M	ENSP00000268981:V148M	V	-	1	0	SPATA22	3299081	0.002000	0.14202	0.019000	0.16419	0.059000	0.15707	-1.651000	0.01989	-1.929000	0.01057	-0.417000	0.06048	GTG	C|0.767;T|0.233	0.233	strong		0.353	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		T	3352331	C	T	3352331	3	4	22	1	0	0	0	0	1	0	0	0	15007	565	20	2	665	2	SPATA22	17	3352331	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37	3352331	77842879	8504	13612										
TRPV1	7442	hgsc.bcm.edu	37	chr17	3475490	3475490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgcctgagcggaaggcCttcctcatgcacttaaggaa	11	11	1	1	rs877610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3475490C>T	ENST00000571088.1	-	14	2370	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	TRPV1_ENST00000174621.6_Silent_p.K717K|TRPV1_ENST00000310522.5_Silent_p.K659K|TRPV1_ENST00000576351.1_Silent_p.K709K|TRPV1_ENST00000399756.4_Silent_p.K719K|SHPK_ENST00000572705.1_Silent_p.K719K|TRPV1_ENST00000425167.2_Silent_p.K730K|TRPV1_ENST00000399759.3_Silent_p.K719K	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	719					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGCGGAAGGCCTTCCTCATGC	0.587													C|||	349	0.0696885	0.152	0.0159	5008	,	,		21078	0.0407		0.0388	False		,,,				2504	0.0583				p.K719K	Melanoma(38;962 1762 15789)	Atlas-SNP	.											.	TRPV1	99	.	0			c.G2157A						PASS	.	C	,,,	578,3618		34,510,1554	69	72	71		2157,2157,2157,2157	2	1	17	dbSNP_86	71	439,8021		13,413,3804	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	,,,	47,923,5358	TT,TC,CC		5.1891,13.775,8.0357	,,,	719/840,719/840,719/840,719/840	3475490	1017,11639	2098	4230	6328	SO:0001819	synonymous_variant	7442	exon14			GAAGGCCTTCCTC	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2157G>A	17.37:g.3475490C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	126	55	0.436508	NM_018727	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																			C|0.927;T|0.073	0.073	strong		0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		T	3475490	C	T	3475490	2	4	22	1	0	0	0	0	0	0	0	1	16592	680	24	2		2	TRPV1	17	3475490	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123159	3475490	77719720	8505	13613										
TRPV1	7442	hgsc.bcm.edu	37	chr17	3480910	3480910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttctctatcatgacggcAtagatgcccatctgctggaa	8	12	3	2	rs34378673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3480910A>G	ENST00000571088.1	-	11	1908	c.1695T>C	c.(1693-1695)taT>taC	p.Y565Y	TRPV1_ENST00000174621.6_Silent_p.Y563Y|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000310522.5_Silent_p.Y505Y|TRPV1_ENST00000576351.1_Silent_p.Y555Y|TRPV1_ENST00000399756.4_Silent_p.Y565Y|SHPK_ENST00000572705.1_Silent_p.Y565Y|TRPV1_ENST00000425167.2_Silent_p.Y576Y|TRPV1_ENST00000399759.3_Silent_p.Y565Y	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	565					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TCATGACGGCATAGATGCCCA	0.587													G|||	401	0.0800719	0.171	0.0159	5008	,	,		19318	0.0417		0.0398	False		,,,				2504	0.0838				p.Y565Y	Melanoma(38;962 1762 15789)	Atlas-SNP	.											.	TRPV1	99	.	0			c.T1695C						PASS	.	G	,,,	632,3334		42,548,1393	37	41	40		1695,1695,1695,1695	-7.9	0.1	17	dbSNP_126	40	436,7842		15,406,3718	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	,,,	57,954,5111	GG,GA,AA		5.267,15.9355,8.7226	,,,	565/840,565/840,565/840,565/840	3480910	1068,11176	1983	4139	6122	SO:0001819	synonymous_variant	7442	exon11			GACGGCATAGATG	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1695T>C	17.37:g.3480910A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	69	31	0.449275	NM_018727	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																			A|0.934;G|0.066	0.066	strong		0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		G	3480910	A	G	3480910	2	3	22	1	0	0	0	0	0	0	0	1	16592	224	8	2		2	TRPV1	17	3480910	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5420	3480910	77714300	8506	13614										
SHPK	23729	hgsc.bcm.edu	37	chr17	3526637	3526637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgtgatactcacgtctCtacgttccagctttggctct	9	11	3	1	rs150857	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3526637C>T	ENST00000225519.3	-	4	745	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	215			E -> K (in dbSNP:rs150857). {ECO:0000269|PubMed:10673275}.		carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ACTCACGTCTCTACGTTCCAG	0.562													C|||	1387	0.276957	0.4962	0.1744	5008	,	,		21811	0.2361		0.1113	False		,,,				2504	0.2658				p.E215K		Atlas-SNP	.											.	SHPK	34	.	0			c.G643A						PASS	.	C	LYS/GLU	1912,2494	547.3+/-377.3	430,1052,721	145	128	134		643	4.1	0.6	17	dbSNP_79	134	832,7768	191.4+/-237.6	54,724,3522	yes	missense	SHPK	NM_013276.2	56	484,1776,4243	TT,TC,CC		9.6744,43.3954,21.098	benign	215/479	3526637	2744,10262	2203	4300	6503	SO:0001583	missense	23729	exon4			ACGTCTCTACGTT	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.643G>A	17.37:g.3526637C>T	ENSP00000225519:p.Glu215Lys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	129	54	0.418605	NM_013276	B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	516	0.23626373626373626	253	0.5142276422764228	56	0.15469613259668508	121	0.21153846153846154	86	0.11345646437994723	C	12.44	1.937870	0.34189	0.433954	0.096744	ENSG00000197417	ENST00000225519	T	0.50277	0.75	5.15	4.12	0.48240	Carbohydrate kinase, FGGY, N-terminal (1);	0.397595	0.29093	N	0.013174	T	0.00012	0.0000	L	0.56280	1.765	0.35463	P	0.203353	B	0.30511	0.282	B	0.37198	0.243	T	0.51260	-0.8728	9	0.52906	T	0.07	.	15.4768	0.75489	0.0:0.8617:0.1383:0.0	rs150857;rs16953310;rs56508810;rs58041020;rs150857	215	Q9UHJ6	SHPK_HUMAN	K	215	ENSP00000225519:E215K	ENSP00000225519:E215K	E	-	1	0	SHPK	3473386	0.946000	0.32159	0.638000	0.29380	0.026000	0.11368	2.415000	0.44635	2.562000	0.86427	0.561000	0.74099	GAG	C|0.763;T|0.237	0.237	strong		0.562	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			T	3526637	C	T	3526637	3	4	22	1	0	0	0	0	1	0	0	0	14290	922	32	2	809	2	SHPK	17	3526637	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45727	3526637	77668573	8507	13615										
GSG2	83903	hgsc.bcm.edu	37	chr17	3627619	3627619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaagtgcagcacaccctgCggcccgctccgacttccgcc	10	19	0	1	rs1185511	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3627619C>T	ENST00000325418.4	+	1	409	c.390C>T	c.(388-390)tgC>tgT	p.C130C	ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	130					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GCACACCCTGCGGCCCGCTCC	0.731													C|||	804	0.160543	0.587	0.0403	5008	,	,		12752	0.0		0.0	False		,,,				2504	0.0				p.C130C		Atlas-SNP	.											.	GSG2	48	.	0			c.C390T						PASS	.	C	,	1822,2460		390,1042,709	6	8	8		,390	4.4	0.7	17	dbSNP_87	8	25,8313		0,25,4144	no	intron,coding-synonymous	ITGAE,GSG2	NM_002208.4,NM_031965.2	,	390,1067,4853	TT,TC,CC		0.2998,42.5502,14.6355	,	,130/799	3627619	1847,10773	2141	4169	6310	SO:0001819	synonymous_variant	83903	exon1			ACCCTGCGGCCCG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.390C>T	17.37:g.3627619C>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	7	5	0.714286	NM_031965	Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	CCDS11036.1																																																																																			C|0.779;T|0.221	0.221	strong		0.731	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		T	3627619	C	T	3627619	2	4	22	1	0	0	0	0	0	0	0	1	6822	776	27	1		1	GSG2	17	3627619	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	100982	3627619	77567591	8508	13616										
ITGAE	3682	hgsc.bcm.edu	37	chr17	3631241	3631241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtcagcttcttcactgctAcaacctggagacctcgtaat	7	13	3	1	rs2976230	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3631241A>G	ENST00000263087.4	-	26	3154	c.3056T>C	c.(3055-3057)gTa>gCa	p.V1019A	ITGAE_ENST00000571185.1_5'UTR|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1019			V -> A (in dbSNP:rs2976230). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8119947}.		cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTTCACTGCTACAACCTGGAG	0.428													A|||	1411	0.281749	0.6513	0.2061	5008	,	,		20622	0.0476		0.2396	False		,,,				2504	0.1207				p.V1019A	NSCLC(182;635 2928 8995 38788)	Atlas-SNP	.											.	ITGAE	96	.	0			c.T3056C						PASS	.	A	ALA/VAL	2478,1928	625.4+/-394.5	700,1078,425	123	119	120		3056	3.2	0	17	dbSNP_101	120	1912,6688	338.9+/-322.9	237,1438,2625	yes	missense	ITGAE	NM_002208.4	64	937,2516,3050	GG,GA,AA		22.2326,43.7585,33.7537	benign	1019/1180	3631241	4390,8616	2203	4300	6503	SO:0001583	missense	3682	exon26			ACTGCTACAACCT	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.3056T>C	17.37:g.3631241A>G	ENSP00000263087:p.Val1019Ala	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	219	125	0.570776	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	602	0.27564102564102566	317	0.6443089430894309	80	0.22099447513812154	24	0.04195804195804196	181	0.23878627968337732	A	7.129	0.579584	0.13686	0.562415	0.222326	ENSG00000083457	ENST00000263087	T	0.48836	0.8	5.39	3.19	0.36642	Integrin alpha-2 (1);	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	P	0.38280	0.625	B	0.37508	0.252	T	0.42032	-0.9475	8	0.41790	T	0.15	.	7.2351	0.26066	0.7444:0.0:0.2556:0.0	rs2976230;rs60211921;rs2976230	1019	P38570	ITAE_HUMAN	A	1019	ENSP00000263087:V1019A	ENSP00000263087:V1019A	V	-	2	0	ITGAE	3577990	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.346000	0.33964	0.450000	0.26774	-0.264000	0.10439	GTA	A|0.678;G|0.322	0.322	strong		0.428	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		G	3631241	A	G	3631241	3	3	22	1	0	0	0	0	1	0	0	0	7885	391	14	2	507	2	ITGAE	17	3631241	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3622	3631241	77563969	8509	13617										
C17orf85	55421	hgsc.bcm.edu	37	chr17	3728315	3728315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatcgtttcttaacaaagaCtcctcttctacctgagacaa	5	11	3	3	rs218719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3728315C>T	ENST00000389005.4	-	7	744	c.717G>A	c.(715-717)gaG>gaA	p.E239E	C17orf85_ENST00000158149.3_5'UTR|C17orf85_ENST00000577169.1_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	239							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTAACAAAGACTCCTCTTCTA	0.308													C|||	249	0.0497204	0.1808	0.0115	5008	,	,		17016	0.001		0.0	False		,,,				2504	0.001				p.E239E		Atlas-SNP	.											.	C17orf85	66	.	0			c.G717A						PASS	.	C	,	179,1205		16,147,529	120	94	102		717,	-1.8	1	17	dbSNP_79	102	2,3172		0,2,1585	no	coding-synonymous,utr-5	C17orf85	NM_001114118.1,NM_018553.3	,	16,149,2114	TT,TC,CC		0.063,12.9335,3.971	,	239/621,	3728315	181,4377	692	1587	2279	SO:0001819	synonymous_variant	55421	exon7			CAAAGACTCCTCT		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.717G>A	17.37:g.3728315C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	11	0.407407	NM_001114118	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	CCDS45578.1																																																																																			C|0.932;T|0.068	0.068	strong		0.308	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		T	3728315	C	T	3728315	2	4	22	1	0	0	0	0	0	0	0	1	1888	564	20	2		2	C17orf85	17	3728315	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97074	3728315	77466895	8510	13618										
C17orf85	55421	hgsc.bcm.edu	37	chr17	3749411	3749411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctccatgggctccggcTcgccacggtcaacaccggac	10	19	1	0	rs12449334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3749411T>G	ENST00000389005.4	-	1	134	c.107A>C	c.(106-108)gAg>gCg	p.E36A	C17orf85_ENST00000158149.3_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	36							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GGGCTCCGGCTCGCCACGGTC	0.736													T|||	346	0.0690895	0.1339	0.0101	5008	,	,		10338	0.123		0.006	False		,,,				2504	0.0327				p.E36A		Atlas-SNP	.											.	C17orf85	66	.	0			c.A107C						PASS	.	T	ALA/GLU,	160,1220		6,148,536	11	14	13		107,	4.3	1	17	dbSNP_120	13	15,3167		0,15,1576	yes	missense,utr-5	C17orf85	NM_001114118.1,NM_018553.3	107,	6,163,2112	GG,GT,TT		0.4714,11.5942,3.836	probably-damaging,	36/621,	3749411	175,4387	690	1591	2281	SO:0001583	missense	55421	exon1			TCCGGCTCGCCAC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.107A>C	17.37:g.3749411T>G	ENSP00000373657:p.Glu36Ala	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	26	0.472727	NM_001114118	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	CCDS45578.1	119	0.05448717948717949	55	0.11178861788617886	3	0.008287292817679558	59	0.10314685314685315	2	0.002638522427440633	T	26.4	4.738297	0.89573	0.115942	0.004714	ENSG00000074356	ENST00000389005	.	.	.	4.27	4.27	0.50696	.	0.058567	0.64402	D	0.000002	T	0.01489	0.0048	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.05666	-1.0871	9	0.62326	D	0.03	-16.2075	12.0236	0.53358	0.0:0.0:0.0:1.0	rs12449334;rs57228453;rs12449334	36	Q53F19	CQ085_HUMAN	A	36	.	ENSP00000373657:E36A	E	-	2	0	C17orf85	3696160	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.869000	0.69613	2.169000	0.68431	0.374000	0.22700	GAG	T|0.949;G|0.051	0.051	strong		0.736	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		G	3749411	T	G	3749411	3	3	22	1	0	0	0	0	1	0	0	0	1888	1551	54	5	1807	5	C17orf85	17	3749411	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21096	3749411	77445799	8511	13619										
CAMKK1	84254	hgsc.bcm.edu	37	chr17	3786456	3786456	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcagcctgggaccctctCgggggagggcgacctgtgac	18	12	1	1	rs737362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3786456C>T	ENST00000348335.2	-	6	676	c.528G>A	c.(526-528)ccG>ccA	p.P176P	CAMKK1_ENST00000158166.5_Silent_p.P176P|CAMKK1_ENST00000381769.2_Silent_p.P203P|CAMKK1_ENST00000381771.2_Silent_p.P176P	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GGGACCCTCTCGGGGGAGGGC	0.627													C|||	289	0.0577077	0.2118	0.0101	5008	,	,		19719	0.0		0.002	False		,,,				2504	0.0				p.P176P		Atlas-SNP	.											.	CAMKK1	70	.	0			c.G528A						PASS	.	C	,,	836,3570	328.5+/-300.6	77,682,1444	61	60	60		528,528,528	-10.9	0	17	dbSNP_86	60	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	CAMKK1	NM_032294.2,NM_172206.1,NM_172207.2	,,	77,691,5735	TT,TC,CC		0.1047,18.9741,6.497	,,	176/506,176/506,176/521	3786456	845,12161	2203	4300	6503	SO:0001819	synonymous_variant	84254	exon6			CCCTCTCGGGGGA	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.528G>A	17.37:g.3786456C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_032294	Q9BQH3	Silent	SNP	ENST00000348335.2	37	CCDS11038.1																																																																																			C|0.934;T|0.066	0.066	strong		0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		T	3786456	C	T	3786456	2	4	22	1	0	0	0	0	0	0	0	1	2606	871	31	1		1	CAMKK1	17	3786456	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37045	3786456	77408754	8512	13620										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3839685	3839685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagccgtggcaggtaggccGtctgtcaccaggttcaccca	13	13	3	1	rs1062683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3839685G>A	ENST00000352011.3	-	16	2454	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	ATP2A3_ENST00000397041.3_Silent_p.D800D|ATP2A3_ENST00000397043.3_Silent_p.D800D|ATP2A3_ENST00000309890.7_Silent_p.D800D|ATP2A3_ENST00000397035.3_Silent_p.D800D|ATP2A3_ENST00000397039.1_De_novo_Start_OutOfFrame|ATP2A3_ENST00000359983.3_Silent_p.D800D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	800					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGGTAGGCCGTCTGTCACCA	0.622													G|||	849	0.169529	0.2194	0.1585	5008	,	,		17621	0.0655		0.1918	False		,,,				2504	0.1943				p.D800D	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.C2400T						PASS	.	G	,,,,,,	946,3460	360.9+/-315.4	98,750,1355	78	80	79		2400,2400,2400,2400,2400,2400,2400	0.7	1	17	dbSNP_86	79	1710,6890	312.5+/-310.9	156,1398,2746	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	254,2148,4101	AA,AG,GG		19.8837,21.4707,20.4213	,,,,,,	800/1000,800/1053,800/1045,800/1044,800/1030,800/999,800/1030	3839685	2656,10350	2203	4300	6503	SO:0001819	synonymous_variant	489	exon16			TAGGCCGTCTGTC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2400C>T	17.37:g.3839685G>A		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	233	134	0.575107	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			T|0.000;G|0.815;C|0.000;A|0.184	0.184	strong		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		A	3839685	G	A	3839685	2	1	22	1	0	0	0	0	0	0	0	1	1138	1136	40	1		1	ATP2A3	17	3839685	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53229	3839685	77355525	8513	13621										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3840928	3840928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgtcgttcactccatcgccAgtctgtgggccaggtcaggt	13	13	3	0	rs3179783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3840928A>G	ENST00000352011.3	-	15	2157	c.2103T>C	c.(2101-2103)acT>acC	p.T701T	ATP2A3_ENST00000397041.3_Silent_p.T701T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Silent_p.T701T|ATP2A3_ENST00000397035.3_Silent_p.T701T|ATP2A3_ENST00000397043.3_Silent_p.T701T|ATP2A3_ENST00000359983.3_Silent_p.T701T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	701					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTCCATCGCCAGTCTGTGGGC	0.612													A|||	1039	0.207468	0.3578	0.17	5008	,	,		20549	0.0655		0.1918	False		,,,				2504	0.1933				p.T701T	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.T2103C						PASS	.	A	,,,,,,	1436,2970	455.5+/-351.0	245,946,1012	42	38	40		2103,2103,2103,2103,2103,2103,2103	-1.1	1	17	dbSNP_105	40	1710,6890	307.6+/-308.5	157,1396,2747	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	402,2342,3759	GG,GA,AA		19.8837,32.5919,24.1888	,,,,,,	701/1000,701/1053,701/1045,701/1044,701/1030,701/999,701/1030	3840928	3146,9860	2203	4300	6503	SO:0001819	synonymous_variant	489	exon15			ATCGCCAGTCTGT		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2103T>C	17.37:g.3840928A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	79	31	0.392405	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			A|0.782;G|0.218	0.218	strong		0.612	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3840928	A	G	3840928	2	3	22	1	0	0	0	0	0	0	0	1	1138	175	7	3		3	ATP2A3	17	3840928	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1243	3840928	77354282	8514	13622										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3844787	3844787	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcctccttccttgggggCgcgtcccgggtggccagtgc	15	14	0	0	rs1800912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3844787C>G	ENST00000352011.3	-	13	1761	c.1707G>C	c.(1705-1707)gcG>gcC	p.A569A	ATP2A3_ENST00000397041.3_Silent_p.A569A|ATP2A3_ENST00000397043.3_Silent_p.A569A|ATP2A3_ENST00000309890.7_Silent_p.A569A|ATP2A3_ENST00000397035.3_Silent_p.A569A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.A569A			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	569					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTGGGGGCGCGTCCCGGG	0.652													c|||	741	0.147963	0.1589	0.2637	5008	,	,		17537	0.004		0.2515	False		,,,				2504	0.093				p.A569A	GBM(32;29 774 15719 37967)	Atlas-SNP	.											ATP2A3,NS,carcinoma,-2,1	ATP2A3	148	1	0			c.G1707C						PASS	.		,,,,,,	776,3630	305.8+/-289.2	74,628,1501	86	85	85		1707,1707,1707,1707,1707,1707,1707	-7.3	0	17	dbSNP_89	85	2122,6478	357.5+/-330.8	286,1550,2464	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	360,2178,3965	GG,GC,CC		24.6744,17.6123,22.282	,,,,,,	569/1000,569/1053,569/1045,569/1044,569/1030,569/999,569/1030	3844787	2898,10108	2203	4300	6503	SO:0001819	synonymous_variant	489	exon13			TGGGGGCGCGTCC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1707G>C	17.37:g.3844787C>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	125	65	0.52	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			C|0.787;G|0.213	0.213	strong		0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3844787	C	G	3844787	2	3	22	1	0	0	0	0	0	0	0	1	1138	755	27	4		4	ATP2A3	17	3844787	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3859	3844787	77350423	8515	13623										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3845927	3845927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatcttgctgccctggccAgtagggtgagggcgggtggg	18	9	1	1	rs17846889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3845927A>G	ENST00000352011.3	-	12	1572	c.1518T>C	c.(1516-1518)acT>acC	p.T506T	ATP2A3_ENST00000397041.3_Silent_p.T506T|ATP2A3_ENST00000397043.3_Silent_p.T506T|ATP2A3_ENST00000309890.7_Silent_p.T506T|ATP2A3_ENST00000397035.3_Silent_p.T506T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.T506T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	506					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCCCTGGCCAGTAGGGTGAG	0.642													a|||	1927	0.384784	0.584	0.4712	5008	,	,		16766	0.0873		0.4553	False		,,,				2504	0.2883				p.T506T	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.T1518C						PASS	.	G	,,,,,,	2512,1894	629.2+/-395.2	714,1084,405	78	68	72		1518,1518,1518,1518,1518,1518,1518	-7.9	0	17	dbSNP_123	72	3954,4646	550.0+/-385.7	933,2088,1279	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	1647,3172,1684	GG,GA,AA		45.9767,42.9868,49.7155	,,,,,,	506/1000,506/1053,506/1045,506/1044,506/1030,506/999,506/1030	3845927	6466,6540	2203	4300	6503	SO:0001819	synonymous_variant	489	exon12			CTGGCCAGTAGGG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1518T>C	17.37:g.3845927A>G		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	30	30	1	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			G|0.461;C|0.000;A|0.539	0.461	strong		0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3845927	A	G	3845927	2	3	22	1	0	0	0	0	0	0	0	1	1138	175	7	3		3	ATP2A3	17	3845927	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1140	3845927	77349283	8516	13624										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3846802	3846802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcctctcccaccttctcAtacacacccttggcctggca	7	18	2	0	rs758641	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3846802A>G	ENST00000352011.3	-	11	1356	c.1302T>C	c.(1300-1302)taT>taC	p.Y434Y	ATP2A3_ENST00000397041.3_Silent_p.Y434Y|ATP2A3_ENST00000397043.3_Silent_p.Y434Y|ATP2A3_ENST00000309890.7_Silent_p.Y434Y|ATP2A3_ENST00000397035.3_Silent_p.Y434Y|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.Y434Y			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	434					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACCTTCTCATACACACCCT	0.642													G|||	1669	0.333267	0.3956	0.4582	5008	,	,		16607	0.0843		0.4563	False		,,,				2504	0.2904				p.Y434Y	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.T1302C						PASS	.	G	,,,,,,	1730,2676	648.5+/-398.7	344,1042,817	132	118	123		1302,1302,1302,1302,1302,1302,1302	-0.9	0.9	17	dbSNP_86	123	3981,4619	600.8+/-394.3	943,2095,1262	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	1287,3137,2079	GG,GA,AA		46.2907,39.2646,43.9105	,,,,,,	434/1000,434/1053,434/1045,434/1044,434/1030,434/999,434/1030	3846802	5711,7295	2203	4300	6503	SO:0001819	synonymous_variant	489	exon11			CTTCTCATACACA		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1302T>C	17.37:g.3846802A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			A|0.605;G|0.395	0.395	strong		0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3846802	A	G	3846802	2	3	22	1	0	0	0	0	0	0	0	1	1138	224	8	2		2	ATP2A3	17	3846802	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	875	3846802	77348408	8517	13625										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3848013	3848013	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacctcgttgtagtccagAgccgagtcgttgcacagggc	12	14	0	1	rs1800911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3848013A>C	ENST00000352011.3	-	10	1326	c.1272T>G	c.(1270-1272)gcT>gcG	p.A424A	ATP2A3_ENST00000397041.3_Silent_p.A424A|ATP2A3_ENST00000397043.3_Silent_p.A424A|ATP2A3_ENST00000309890.7_Silent_p.A424A|ATP2A3_ENST00000397035.3_Silent_p.A424A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.A424A			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	424					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGTAGTCCAGAGCCGAGTCGT	0.657													C|||	1684	0.336262	0.4062	0.4597	5008	,	,		11878	0.0843		0.4573	False		,,,				2504	0.2894				p.A424A	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.T1272G						PASS	.	C	,,,,,,	1739,2667	636.6+/-396.6	349,1041,813	51	42	45		1272,1272,1272,1272,1272,1272,1272	-4.1	0.5	17	dbSNP_89	45	3945,4651	593.9+/-393.2	927,2091,1280	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	1276,3132,2093	CC,CA,AA		45.8934,39.4689,43.7164	,,,,,,	424/1000,424/1053,424/1045,424/1044,424/1030,424/999,424/1030	3848013	5684,7318	2203	4298	6501	SO:0001819	synonymous_variant	489	exon10			GTCCAGAGCCGAG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1272T>G	17.37:g.3848013A>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			A|0.610;C|0.390	0.390	strong		0.657	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		C	3848013	A	C	3848013	2	2	22	1	0	0	0	0	0	0	0	1	1138	291	11	5		5	ATP2A3	17	3848013	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1211	3848013	77347197	8518	13626										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3850910	3850910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaagtagtagacagcgccAcgcagccaggagccaccgtg	13	12	0	2	rs55837933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:3850910A>G	ENST00000352011.3	-	8	924	c.870T>C	c.(868-870)cgT>cgC	p.R290R	ATP2A3_ENST00000397041.3_Silent_p.R290R|ATP2A3_ENST00000397043.3_Silent_p.R290R|ATP2A3_ENST00000309890.7_Silent_p.R290R|ATP2A3_ENST00000397035.3_Silent_p.R290R|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.R290R			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	290					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGACAGCGCCACGCAGCCAGG	0.677													G|||	356	0.0710863	0.2564	0.0245	5008	,	,		16011	0.0		0.0	False		,,,				2504	0.0				p.R290R	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.T870C						PASS	.	G	,,,,,,	1054,3350		133,788,1281	28	31	30		870,870,870,870,870,870,870	-7.5	0.1	17	dbSNP_129	30	5,8591		0,5,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	133,793,5574	GG,GA,AA		0.0582,23.9328,8.1462	,,,,,,	290/1000,290/1053,290/1045,290/1044,290/1030,290/999,290/1030	3850910	1059,11941	2202	4298	6500	SO:0001819	synonymous_variant	489	exon8			AGCGCCACGCAGC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.870T>C	17.37:g.3850910A>G		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	43	26	0.604651	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			A|0.928;G|0.072	0.072	strong		0.677	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3850910	A	G	3850910	2	3	22	1	0	0	0	0	0	0	0	1	1138	146	6	2		2	ATP2A3	17	3850910	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2897	3850910	77344300	8519	13627										
SPNS3	201305	hgsc.bcm.edu	37	chr17	4351534	4351534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagctgccgagacacagGgggagggggccgtgggaggc	24	8	0	1	rs61740736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4351534G>C	ENST00000355530.2	+	6	986	c.706G>C	c.(706-708)Ggg>Cgg	p.G236R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.G109R	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	236					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGAGACACAGGGGGAGGGGGC	0.637													G|||	77	0.0153754	0.0552	0.0058	5008	,	,		17510	0.0		0.0	False		,,,				2504	0.0				p.G236R		Atlas-SNP	.											.	SPNS3	52	.	0			c.G706C						PASS	.	G	ARG/GLY	160,4246	104.3+/-142.8	3,154,2046	33	31	32		706	1.9	0.2	17	dbSNP_129	32	0,8600		0,0,4300	yes	missense	SPNS3	NM_182538.4	125	3,154,6346	CC,CG,GG		0.0,3.6314,1.2302	benign	236/513	4351534	160,12846	2203	4300	6503	SO:0001583	missense	201305	exon6			ACACAGGGGGAGG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.706G>C	17.37:g.4351534G>C	ENSP00000347721:p.Gly236Arg	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	103	43	0.417476	NM_182538	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	28	0.01282051282051282	25	0.0508130081300813	3	0.008287292817679558	0	0.0	0	0.0	G	3.051	-0.195356	0.06259	0.036314	0.0	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58797	0.31;0.31	5.42	1.9	0.25705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.357041	0.32343	N	0.006225	T	0.05960	0.0155	N	0.17312	0.475	0.09310	N	0.999999	B;B	0.15141	0.001;0.012	B;B	0.23852	0.002;0.049	T	0.04153	-1.0973	10	0.11485	T	0.65	-3.8842	3.2294	0.06744	0.3204:0.0:0.4977:0.1819	rs61740736	109;236	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	R	236;109	ENSP00000347721:G236R;ENSP00000333207:G109R	ENSP00000333207:G109R	G	+	1	0	SPNS3	4298283	0.202000	0.23423	0.212000	0.23672	0.006000	0.05464	0.900000	0.28431	0.794000	0.33899	-0.217000	0.12591	GGG	G|0.989;C|0.011	0.011	strong		0.637	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		C	4351534	G	C	4351534	3	2	22	1	0	0	0	0	1	0	0	0	15075	1232	43	4	728	4	SPNS3	17	4351534	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	500624	4351534	76843676	8520	13628										
SPNS2	124976	hgsc.bcm.edu	37	chr17	4436354	4436354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgtggatcccgctctacCtgcaccgcgcccaagttgtg	11	15	1	0	rs61746307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4436354C>T	ENST00000329078.3	+	7	1228	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	340					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CCCGCTCTACCTGCACCGCGC	0.701													C|||	77	0.0153754	0.0522	0.0101	5008	,	,		17617	0.0		0.001	False		,,,				2504	0.0				p.L340L		Atlas-SNP	.											.	SPNS2	24	.	0			c.C1018T						PASS	.	C		138,2998		5,128,1435	30	32	31		1018	2.7	1	17	dbSNP_129	31	2,7162		0,2,3580	no	coding-synonymous	SPNS2	NM_001124758.1		5,130,5015	TT,TC,CC		0.0279,4.4005,1.3592		340/550	4436354	140,10160	1568	3582	5150	SO:0001819	synonymous_variant	124976	exon7			CTCTACCTGCACC	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1018C>T	17.37:g.4436354C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	139	68	0.489209	NM_001124758	B9A1T3	Silent	SNP	ENST00000329078.3	37	CCDS42237.1																																																																																			C|0.989;T|0.011	0.011	strong		0.701	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			T	4436354	C	T	4436354	2	4	22	1	0	0	0	0	0	0	0	1	15074	680	24	2		2	SPNS2	17	4436354	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84820	4436354	76758856	8521	13629										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4448324	4448324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacctcccccactcaccagCgccttcccagcctgcagcac	5	24	1	0	rs9910964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4448324C>T	ENST00000254718.4	-	17	2613	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	MYBBP1A_ENST00000381556.2_Silent_p.A769A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	769	Glu-rich.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACTCACCAGCGCCTTCCCAG	0.711													C|||	363	0.072484	0.2572	0.0231	5008	,	,		4471	0.0		0.007	False		,,,				2504	0.0				p.A769A		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.G2307A						PASS	.	C	,	821,3251		77,667,1292	88	62	71		2307,2307	-1.9	1	17	dbSNP_119	71	16,7960		0,16,3972	yes	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	77,683,5264	TT,TC,CC		0.2006,20.1621,6.9472	,	769/1333,769/1329	4448324	837,11211	2036	3988	6024	SO:0001819	synonymous_variant	10514	exon17			CACCAGCGCCTTC	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2307G>A	17.37:g.4448324C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	31	0.5	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																			C|0.916;T|0.084	0.084	strong		0.711	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4448324	C	T	4448324	2	4	22	1	0	0	0	0	0	0	0	1	10008	755	27	1		1	MYBBP1A	17	4448324	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11970	4448324	76746886	8522	13630										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4448389	4448389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatccacgtccccgtcgcGctcctcctcctcgctctcct	6	22	1	1	rs72830101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4448389G>T	ENST00000254718.4	-	17	2548	c.2242C>A	c.(2242-2244)Cgc>Agc	p.R748S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R748S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	748	Glu-rich.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						tccccgtcgcgctcctcctcc	0.662													G|||	10	0.00199681	0.0	0.0043	5008	,	,		8617	0.0		0.007	False		,,,				2504	0.0				p.R748S		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.C2242A						PASS	.	G	SER/ARG,SER/ARG	11,4391		0,11,2190	257	178	205		2242,2242	5.2	0.1	17	dbSNP_130	205	85,8503		1,83,4210	yes	missense,missense	MYBBP1A	NM_001105538.1,NM_014520.3	110,110	1,94,6400	TT,TG,GG		0.9898,0.2499,0.739	probably-damaging,probably-damaging	748/1333,748/1329	4448389	96,12894	2201	4294	6495	SO:0001583	missense	10514	exon17			CGTCGCGCTCCTC	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2242C>A	17.37:g.4448389G>T	ENSP00000254718:p.Arg748Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	123	62	0.504065	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	g	12.87	2.068082	0.36470	0.002499	0.009898	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.40756	1.02;1.02	5.22	5.22	0.72569	Armadillo-type fold (1);	0.309217	0.33401	N	0.004955	T	0.41488	0.1161	L	0.60455	1.87	0.09310	N	1	P;D	0.61697	0.506;0.99	B;P	0.55303	0.189;0.773	T	0.37454	-0.9705	10	0.21014	T	0.42	-13.6044	11.7659	0.51930	0.0:0.0:0.8245:0.1755	.	748;748	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	S	748	ENSP00000370968:R748S;ENSP00000254718:R748S	ENSP00000254718:R748S	R	-	1	0	MYBBP1A	4395138	0.003000	0.15002	0.081000	0.20488	0.383000	0.30230	0.387000	0.20718	2.606000	0.88127	0.542000	0.68232	CGC	G|0.995;T|0.005	0.005	strong		0.662	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4448389	G	T	4448389	3	4	22	1	0	0	0	0	1	0	0	0	10008	1087	38	4	1824	4	MYBBP1A	17	4448389	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	65	4448389	76746821	8523	13631										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4448590	4448590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccgctcatcagaatcgtcCgtcaccaccacacggtcatt	7	17	4	1	rs9911631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4448590C>T	ENST00000254718.4	-	16	2430	c.2124G>A	c.(2122-2124)acG>acA	p.T708T	MYBBP1A_ENST00000381556.2_Silent_p.T708T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	708					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGAATCGTCCGTCACCACCA	0.667													C|||	367	0.0732827	0.2602	0.0231	5008	,	,		11832	0.0		0.007	False		,,,				2504	0.0				p.T708T		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.G2124A						PASS	.	C	,	1006,3400	373.4+/-320.8	117,772,1314	109	101	104		2124,2124	-10.3	0	17	dbSNP_119	104	13,8587	8.4+/-32.0	0,13,4287	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	117,785,5601	TT,TC,CC		0.1512,22.8325,7.8348	,	708/1333,708/1329	4448590	1019,11987	2203	4300	6503	SO:0001819	synonymous_variant	10514	exon16			ATCGTCCGTCACC	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2124G>A	17.37:g.4448590C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	89	50	0.561798	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																			C|0.931;T|0.069	0.069	strong		0.667	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4448590	C	T	4448590	2	4	22	1	0	0	0	0	0	0	0	1	10008	639	23	1		1	MYBBP1A	17	4448590	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201	4448590	76746620	8524	13632										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4448940	4448940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggcacgcggggtcaggtGggagcagatgtggccaaaca	18	9	1	1	rs899440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4448940G>A	ENST00000254718.4	-	15	2344	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.H680Y			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	680			H -> Y (in dbSNP:rs899440).		cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGTCAGGTGGGAGCAGATG	0.642													g|||	352	0.0702875	0.2519	0.0202	5008	,	,		16357	0.0		0.005	False		,,,				2504	0.0				p.H680Y		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.C2038T						PASS	.	G	TYR/HIS,TYR/HIS	952,3454	352.8+/-311.9	98,756,1349	49	47	47		2038,2038	5.2	1	17	dbSNP_86	47	12,8588	7.7+/-29.5	0,12,4288	yes	missense,missense	MYBBP1A	NM_001105538.1,NM_014520.3	83,83	98,768,5637	AA,AG,GG		0.1395,21.6069,7.412	benign,benign	680/1333,680/1329	4448940	964,12042	2203	4300	6503	SO:0001583	missense	10514	exon15			TCAGGTGGGAGCA	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2038C>T	17.37:g.4448940G>A	ENSP00000254718:p.His680Tyr	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	187	75	0.40107	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	127	0.05815018315018315	114	0.23170731707317074	7	0.019337016574585635	0	0.0	6	0.0079155672823219	g	15.08	2.726715	0.48833	0.216069	0.001395	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.52057	0.68;0.68	5.22	5.22	0.72569	Armadillo-type fold (1);	0.271812	0.41294	D	0.000905	T	0.00039	0.0001	L	0.49126	1.545	0.26790	P	0.969415	B;B	0.18968	0.032;0.026	B;B	0.29663	0.105;0.063	T	0.10613	-1.0622	9	0.17832	T	0.49	-30.6606	11.7659	0.51930	0.0:0.0:0.8245:0.1755	rs899440;rs899440	680;680	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	Y	680	ENSP00000370968:H680Y;ENSP00000254718:H680Y	ENSP00000254718:H680Y	H	-	1	0	MYBBP1A	4395689	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.767000	0.47637	2.606000	0.88127	0.542000	0.68232	CAC	G|0.935;A|0.065	0.065	strong		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		A	4448940	G	A	4448940	3	1	22	1	0	0	0	0	1	0	0	0	10008	1348	47	2	2036	2	MYBBP1A	17	4448940	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	350	4448940	76746270	8525	13633										
MYBBP1A	10514	hgsc.bcm.edu	37	chr17	4458536	4458536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcgcgactgtgcttcaaTaggccatagcggtcggcagg	13	11	1	0	rs144321472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4458536T>C	ENST00000254718.4	-	1	390	c.84A>G	c.(82-84)ctA>ctG	p.L28L	MYBBP1A_ENST00000381556.2_Silent_p.L28L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	28	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGTGCTTCAATAGGCCATAGC	0.637													C|||	34	0.00678914	0.0234	0.0043	5008	,	,		16162	0.0		0.0	False		,,,				2504	0.0				p.L28L		Atlas-SNP	.											.	MYBBP1A	69	.	0			c.A84G						PASS	.	C	,	77,4327	780.9+/-414.5	1,75,2126	24	25	25		84,84	0.6	0.1	17	dbSNP_134	25	2,8596	790.5+/-407.6	0,2,4297	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	1,77,6423	CC,CT,TT		0.0233,1.7484,0.6076	,	28/1333,28/1329	4458536	79,12923	2202	4299	6501	SO:0001819	synonymous_variant	10514	exon1			CTTCAATAGGCCA	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.84A>G	17.37:g.4458536T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	39	0.609375	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																			T|0.995;C|0.005	0.005	strong		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		C	4458536	T	C	4458536	2	2	22	1	0	0	0	0	0	0	0	1	10008	1393	49	2		2	MYBBP1A	17	4458536	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9596	4458536	76736674	8526	13634										
SMTNL2	342527	hgsc.bcm.edu	37	chr17	4497137	4497137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagaattcctctttcacgTggtctgtgccaagctctggc	10	11	4	2	rs9916524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4497137T>C	ENST00000389313.4	+	4	818	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	SMTNL2_ENST00000338859.4_Missense_Mutation_p.W107R	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	251			W -> R (in dbSNP:rs9916524).							breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTCTTTCACGTGGTCTGTGCC	0.592													C|||	229	0.0457268	0.1399	0.0159	5008	,	,		18798	0.0		0.008	False		,,,				2504	0.0256				p.W251R		Atlas-SNP	.											.	SMTNL2	57	.	0			c.T751C						PASS	.	C	ARG/TRP,ARG/TRP	520,3886	776.1+/-414.1	26,468,1709	76	69	72		751,319	-0.1	0	17	dbSNP_119	72	10,8590	818.7+/-406.8	0,10,4290	yes	missense,missense	SMTNL2	NM_001114974.1,NM_198501.2	101,101	26,478,5999	CC,CT,TT		0.1163,11.8021,4.075	benign,benign	251/462,107/318	4497137	530,12476	2203	4300	6503	SO:0001583	missense	342527	exon4			TTCACGTGGTCTG	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.751T>C	17.37:g.4497137T>C	ENSP00000373964:p.Trp251Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	118	45	0.381356	NM_001114974	Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	CCDS45583.1	93	0.042582417582417584	84	0.17073170731707318	4	0.011049723756906077	0	0.0	5	0.006596306068601583	C	0.021	-1.428801	0.01117	0.118021	0.001163	ENSG00000188176	ENST00000338859;ENST00000389313	T;T	0.80994	-1.41;-1.44	4.45	-0.126	0.13515	.	.	.	.	.	T	0.00178	0.0005	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01814	-1.1268	9	0.02654	T	1	-20.7736	3.6672	0.08260	0.4915:0.3015:0.0:0.207	rs9916524;rs52797495;rs56667747;rs9916524	251	Q2TAL5	SMTL2_HUMAN	R	107;251	ENSP00000345143:W107R;ENSP00000373964:W251R	ENSP00000345143:W107R	W	+	1	0	SMTNL2	4443886	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	-2.881000	0.00715	-0.161000	0.10983	-1.043000	0.02367	TGG	T|0.951;C|0.049	0.049	strong		0.592	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		C	4497137	T	C	4497137	3	2	22	1	0	0	0	0	1	0	0	0	14816	1696	59	2	765	2	SMTNL2	17	4497137	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38601	4497137	76698073	8527	13635										
SMTNL2	342527	hgsc.bcm.edu	37	chr17	4497160	4497160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgccaagctctggctaTggggcagtgacagcaagcaa	13	10	2	1	rs8080130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4497160T>C	ENST00000389313.4	+	4	841	c.774T>C	c.(772-774)taT>taC	p.Y258Y	SMTNL2_ENST00000338859.4_Silent_p.Y114Y	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	258										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GCTCTGGCTATGGGGCAGTGA	0.582													C|||	3419	0.682708	0.5257	0.7709	5008	,	,		19667	0.8462		0.6441	False		,,,				2504	0.7035				p.Y258Y		Atlas-SNP	.											.	SMTNL2	57	.	0			c.T774C						PASS	.	C	,	2439,1967	552.7+/-378.6	668,1103,432	81	73	76		774,342	-5.6	0.2	17	dbSNP_116	76	5622,2978	461.5+/-365.4	1833,1956,511	no	coding-synonymous,coding-synonymous	SMTNL2	NM_001114974.1,NM_198501.2	,	2501,3059,943	CC,CT,TT		34.6279,44.6437,38.0209	,	258/462,114/318	4497160	8061,4945	2203	4300	6503	SO:0001819	synonymous_variant	342527	exon4			TGGCTATGGGGCA	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.774T>C	17.37:g.4497160T>C		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	151	150	0.993378	NM_001114974	Q6ZVK6	Silent	SNP	ENST00000389313.4	37	CCDS45583.1																																																																																			T|0.350;C|0.650	0.650	strong		0.582	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		C	4497160	T	C	4497160	2	2	22	1	0	0	0	0	0	0	0	1	14816	1471	51	2		2	SMTNL2	17	4497160	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23	4497160	76698050	8528	13636										
ALOX15	246	hgsc.bcm.edu	37	chr17	4539171	4539171	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagctggaagtcagagctGcgcacccagcatttggccag	14	11	1	1	rs11568113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4539171G>T	ENST00000570836.1	-	9	1140	c.1044C>A	c.(1042-1044)cgC>cgA	p.R348R	ALOX15_ENST00000293761.3_Silent_p.R348R|ALOX15_ENST00000545513.1_Silent_p.R370R|ALOX15_ENST00000574640.1_Silent_p.R309R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	348	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		AGTCAGAGCTGCGCACCCAGC	0.602													G|||	93	0.0185703	0.0681	0.0043	5008	,	,		20183	0.0		0.0	False		,,,				2504	0.0				p.R348R		Atlas-SNP	.											.	ALOX15	70	.	0			c.C1044A						PASS	.	G		314,4092	169.1+/-199.8	15,284,1904	68	70	69		1044	-7.4	0.6	17	dbSNP_120	69	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	ALOX15	NM_001140.3		15,286,6202	TT,TG,GG		0.0233,7.1266,2.4296		348/663	4539171	316,12690	2203	4300	6503	SO:0001819	synonymous_variant	246	exon8			AGAGCTGCGCACC	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1044C>A	17.37:g.4539171G>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	150	77	0.513333	NM_001140	A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	CCDS11049.1																																																																																			G|0.973;T|0.027	0.027	strong		0.602	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			T	4539171	G	T	4539171	2	4	22	1	0	0	0	0	0	0	0	1	538	1306	46	4		4	ALOX15	17	4539171	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42011	4539171	76656039	8529	13637										
PELP1	27043	hgsc.bcm.edu	37	chr17	4574751	4574751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctaggagtcaggctctgTgggaggtggtggcttctcat	17	7	3	0	rs9436	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4574751T>A	ENST00000574876.1	-	17	3393	c.3376A>T	c.(3376-3378)Aca>Tca	p.T1126S	PELP1_ENST00000301396.4_Missense_Mutation_p.T1270S|PELP1_ENST00000269230.7_Missense_Mutation_p.T1036S|PELP1_ENST00000572293.1_Missense_Mutation_p.T1176S|PELP1_ENST00000436683.2_Missense_Mutation_p.T902S			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1126			T -> S (in dbSNP:rs9436).		cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAGGCTCTGTGGGAGGTGGT	0.502													T|||	383	0.0764776	0.0098	0.1297	5008	,	,		18659	0.003		0.2187	False		,,,				2504	0.0583				p.T1126S		Atlas-SNP	.											.	PELP1	102	.	0			c.A3376T						PASS	.	T	SER/THR	176,4116		6,164,1976	88	92	91		3376	-6.8	0	17	dbSNP_52	91	1984,6510		221,1542,2484	yes	missense	PELP1	NM_014389.2	58	227,1706,4460	AA,AT,TT		23.3577,4.1007,16.8935	benign	1126/1131	4574751	2160,10626	2146	4247	6393	SO:0001583	missense	27043	exon17			GCTCTGTGGGAGG		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3376A>T	17.37:g.4574751T>A	ENSP00000461625:p.Thr1126Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	104	41	0.394231	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	212	0.09706959706959707	3	0.006097560975609756	50	0.13812154696132597	1	0.0017482517482517483	158	0.20844327176781002	T	11.08	1.532834	0.27387	0.041007	0.233577	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.47528	0.84;0.86;1.47	4.85	-6.82	0.01698	.	0.524293	0.18951	N	0.126683	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14062	-1.0486	9	0.87932	D	0	-0.2289	5.3463	0.16010	0.1984:0.0767:0.5556:0.1692	rs9436;rs1061099;rs3202093;rs9436	902;1126	E7EV54;Q8IZL8	.;PELP1_HUMAN	S	1270;1036;902	ENSP00000301396:T1270S;ENSP00000269230:T1036S;ENSP00000416231:T902S	ENSP00000269230:T1036S	T	-	1	0	AC091153.1	4521500	0.000000	0.05858	0.007000	0.13788	0.822000	0.46500	-0.622000	0.05553	-1.060000	0.03189	0.459000	0.35465	ACA	T|0.893;A|0.107	0.107	strong		0.502	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		A	4574751	T	A	4574751	3	1	22	1	0	0	0	0	1	0	0	0	11725	1696	59	5	20	5	PELP1	17	4574751	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35580	4574751	76620459	8530	13638										
PELP1	27043	hgsc.bcm.edu	37	chr17	4576620	4576620	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtgggcagcgaggagaCggggccagcagcagcgccag					rs55677157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4576620C>T	ENST00000574876.1	-	15	1787	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	PELP1_ENST00000572293.1_Silent_p.P640P|PELP1_ENST00000269230.7_Intron|PELP1_ENST00000436683.2_Silent_p.P443P|PELP1_ENST00000301396.4_Silent_p.P734P|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	590					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGCGAGGAGACGGGGCCAGCA	0.652													C|||	425	0.0848642	0.0484	0.1282	5008	,	,		16334	0.003		0.2117	False		,,,				2504	0.0573				p.P590P		Atlas-SNP	.											.	PELP1	102	.	0			c.G1770A						PASS	.	C		292,4018		12,268,1875	19	30	27		1770	-3.2	0.9	17	dbSNP_129	27	1899,6647		204,1491,2578	no	coding-synonymous	PELP1	NM_014389.2		216,1759,4453	TT,TC,CC		22.2209,6.7749,17.0426		590/1131	4576620	2191,10665	2155	4273	6428	SO:0001819	synonymous_variant	27043	exon15			AGGAGACGGGGCC		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1770G>A	17.37:g.4576620C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	188	94	0.5	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																			C|0.892;T|0.108	0.108	strong		0.652	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4576620	C	T	4576620	2	4	22	1	0	0	0	0	0	0	0	1	11725	523	19	1		1	PELP1	17	4576620	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1869	4576620	76618590	8531	13639	283	2								
PELP1	27043	hgsc.bcm.edu	37	chr17	4576623	4576623	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgggcagcgaggagacggGgccagcagcagcgccagcag					rs191748391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4576623G>A	ENST00000574876.1	-	15	1784	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Silent_p.A733A|PELP1_ENST00000269230.7_Intron|PELP1_ENST00000572293.1_Silent_p.A639A|PELP1_ENST00000436683.2_Silent_p.A442A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	589					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGGAGACGGGGCCAGCAGCA	0.647													G|||	4	0.000798722	0.003	0.0	5008	,	,		16322	0.0		0.0	False		,,,				2504	0.0				p.A589A		Atlas-SNP	.											.	PELP1	102	.	0			c.C1767T						PASS	.	G		8,4302		0,8,2147	18	30	26		1767	-11.1	0	17		26	0,8548		0,0,4274	no	coding-synonymous	PELP1	NM_014389.2		0,8,6421	AA,AG,GG		0.0,0.1856,0.0622		589/1131	4576623	8,12850	2155	4274	6429	SO:0001819	synonymous_variant	27043	exon15			AGACGGGGCCAGC		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1767C>T	17.37:g.4576623G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	194	97	0.5	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																			G|0.999;A|0.001	0.001	strong		0.647	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		A	4576623	G	A	4576623	2	1	22	1	0	0	0	0	0	0	0	1	11725	1219	43	2		2	PELP1	17	4576623	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	4576623	76618587	8532	13640	283	2								
PELP1	27043	hgsc.bcm.edu	37	chr17	4586220	4586220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcaggacagccacggccaGctccattgtggcaggcgggt	14	14	1	0	rs35109567	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4586220G>A	ENST00000574876.1	-	4	465	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	PELP1_ENST00000572293.1_Silent_p.L200L|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000269230.7_Silent_p.L150L|PELP1_ENST00000436683.2_Silent_p.L3L|PELP1_ENST00000301396.4_Silent_p.L150L|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	150					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCCACGGCCAGCTCCATTGTG	0.557													g|||	138	0.0275559	0.1014	0.0058	5008	,	,		16714	0.0		0.0	False		,,,				2504	0.0				p.L150L		Atlas-SNP	.											.	PELP1	102	.	0			c.C448T						PASS	.			338,3568		15,308,1630	24	28	27		448	-3.3	1	17	dbSNP_126	27	5,8279		0,5,4137	no	coding-synonymous	PELP1	NM_014389.2		15,313,5767	AA,AG,GG		0.0604,8.6534,2.8138		150/1131	4586220	343,11847	1953	4142	6095	SO:0001819	synonymous_variant	27043	exon4			CGGCCAGCTCCAT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.448C>T	17.37:g.4586220G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	176	84	0.477273	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																			G|0.974;A|0.026	0.026	strong		0.557	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		A	4586220	G	A	4586220	2	1	22	1	0	0	0	0	0	0	0	1	11725	962	34	2		2	PELP1	17	4586220	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9597	4586220	76608990	8533	13641										
PLD2	5338	hgsc.bcm.edu	37	chr17	4712395	4712395	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatccatcctttccacagAtttgccgttgcctattctcc	4	15	2	1	rs1132446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4712395A>T	ENST00000263088.6	+	5	515	c.384A>T	c.(382-384)cgA>cgT	p.R128R	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Splice_Site_p.R128R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTTTCCACAGATTTGCCGTTG	0.577													A|||	1582	0.315895	0.4009	0.2392	5008	,	,		18371	0.3641		0.2922	False		,,,				2504	0.2301				p.R128R		Atlas-SNP	.											.	PLD2	138	.	0			c.A384T						PASS	.	A		1617,2789	498.8+/-364.2	279,1059,865	105	113	110		384	-2	1	17	dbSNP_86	110	2393,6207	397.6+/-345.8	351,1691,2258	yes	coding-synonymous-near-splice	PLD2	NM_002663.4		630,2750,3123	TT,TA,AA		27.8256,36.7,30.8319		128/934	4712395	4010,8996	2203	4300	6503	SO:0001630	splice_region_variant	5338	exon5			CCACAGATTTGCC	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.384-1A>T	17.37:g.4712395A>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																			A|0.682;T|0.318	0.318	strong		0.577	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Silent	T	4712395	A	T	4712395	5	4	22	1	0	0	0	0	0	0	1	0	12046	347	12	5	398	5	PLD2	17	4712395	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	126175	4712395	76482815	8534	13642										
PLD2	5338	hgsc.bcm.edu	37	chr17	4721376	4721376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacctgcacaccatcagggAgagccagcacttcctctaca	7	16	2	1	rs17854914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4721376A>G	ENST00000263088.6	+	18	2026	c.1895A>G	c.(1894-1896)gAg>gGg	p.E632G	PLD2_ENST00000572940.1_Missense_Mutation_p.E632G	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	632	Catalytic.		E -> G (in dbSNP:rs17854914). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.E632G(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCATCAGGGAGAGCCAGCAC	0.572													A|||	380	0.0758786	0.0234	0.0836	5008	,	,		19234	0.0675		0.163	False		,,,				2504	0.0603				p.E632G		Atlas-SNP	.											PLD2,NS,carcinoma,0,1	PLD2	138	1	1	Substitution - Missense(1)	stomach(1)	c.A1895G						PASS	.	A	GLY/GLU	162,4244	105.6+/-144.1	2,158,2043	84	65	72		1895	4.8	1	17	dbSNP_123	72	1242,7358	243.9+/-273.3	106,1030,3164	yes	missense	PLD2	NM_002663.4	98	108,1188,5207	GG,GA,AA		14.4419,3.6768,10.795	possibly-damaging	632/934	4721376	1404,11602	2203	4300	6503	SO:0001583	missense	5338	exon18			TCAGGGAGAGCCA	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1895A>G	17.37:g.4721376A>G	ENSP00000263088:p.Glu632Gly	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	91	48	0.527473	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	200	0.09157509157509157	8	0.016260162601626018	36	0.09944751381215469	41	0.07167832167832168	115	0.1517150395778364	A	14.76	2.631171	0.46944	0.036768	0.144419	ENSG00000129219	ENST00000263088	T	0.30182	1.54	4.77	4.77	0.60923	.	0.170853	0.51477	D	0.000095	T	0.00144	0.0004	N	0.26042	0.785	0.27570	P	0.9499091	B;B;P	0.35139	0.033;0.057;0.486	B;B;B	0.40329	0.022;0.064;0.326	T	0.21484	-1.0244	9	0.31617	T	0.26	-15.9283	12.2194	0.54425	1.0:0.0:0.0:0.0	rs17854914	489;632;632	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	G	632	ENSP00000263088:E632G	ENSP00000263088:E632G	E	+	2	0	PLD2	4668342	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.862000	0.56009	1.787000	0.52448	0.454000	0.30748	GAG	A|0.896;G|0.104	0.104	strong		0.572	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		G	4721376	A	G	4721376	3	3	22	1	0	0	0	0	1	0	0	0	12046	304	11	3	1961	3	PLD2	17	4721376	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8981	4721376	76473834	8535	13643										
SPAG7	9552	hgsc.bcm.edu	37	chr17	4863540	4863540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctttacctttttgaagaTcatgacatagcgacagtcat	7	10	2	3	rs73343382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4863540T>C	ENST00000206020.3	-	4	383	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	SPAG7_ENST00000575142.1_Missense_Mutation_p.I95V|SPAG7_ENST00000573366.1_Missense_Mutation_p.I55V	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	106	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTTTTGAAGATCATGACATAG	0.488													T|||	154	0.0307508	0.1127	0.0058	5008	,	,		19237	0.0		0.001	False		,,,				2504	0.0				p.I106V		Atlas-SNP	.											.	SPAG7	22	.	0			c.A316G						PASS	.	T	VAL/ILE	363,3671		20,323,1674	75	79	78		316	5.3	1	17	dbSNP_130	78	4,8376		0,4,4186	yes	missense	SPAG7	NM_004890.2	29	20,327,5860	CC,CT,TT		0.0477,8.9985,2.9563	benign	106/228	4863540	367,12047	2017	4190	6207	SO:0001583	missense	9552	exon4			TGAAGATCATGAC	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.316A>G	17.37:g.4863540T>C	ENSP00000206020:p.Ile106Val	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	183	95	0.519126	NM_004890	Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	CCDS42240.1	46	0.021062271062271064	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	0.871	-0.732127	0.03135	0.089985	4.77E-4	ENSG00000091640	ENST00000206020	T	0.43688	0.94	5.3	5.3	0.74995	Single-stranded nucleic acid binding R3H (3);	0.117351	0.56097	D	0.000028	T	0.00967	0.0032	N	0.25789	0.76	0.41244	D	0.986669	B	0.10296	0.003	B	0.12837	0.008	T	0.02610	-1.1134	10	0.02654	T	1	-4.764	13.2379	0.59979	0.0:0.0:0.0:1.0	.	106	O75391	SPAG7_HUMAN	V	106	ENSP00000206020:I106V	ENSP00000206020:I106V	I	-	1	0	SPAG7	4804263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.809000	0.38922	2.225000	0.72522	0.533000	0.62120	ATC	T|0.978;C|0.022	0.022	strong		0.488	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		C	4863540	T	C	4863540	3	2	22	1	0	0	0	0	1	0	0	0	14983	1435	50	2	383	2	SPAG7	17	4863540	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	142164	4863540	76331670	8536	13644										
SPAG7	9552	hgsc.bcm.edu	37	chr17	4863574	4863574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcatcatcttccccaaaGgagaaggatgtcaggccagc	10	12	4	1	rs73343383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4863574G>A	ENST00000206020.3	-	4	349	c.282C>T	c.(280-282)tcC>tcT	p.S94S	SPAG7_ENST00000575142.1_Silent_p.S83S|SPAG7_ENST00000573366.1_Silent_p.S43S	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	94	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CTTCCCCAAAGGAGAAGGATG	0.537													G|||	149	0.0297524	0.1089	0.0058	5008	,	,		18290	0.0		0.001	False		,,,				2504	0.0				p.S94S		Atlas-SNP	.											.	SPAG7	22	.	0			c.C282T						PASS	.	G		347,3719		20,307,1706	63	66	65		282	2.2	1	17	dbSNP_130	65	4,8392		0,4,4194	no	coding-synonymous	SPAG7	NM_004890.2		20,311,5900	AA,AG,GG		0.0476,8.5342,2.8166		94/228	4863574	351,12111	2033	4198	6231	SO:0001819	synonymous_variant	9552	exon4			CCCAAAGGAGAAG	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.282C>T	17.37:g.4863574G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	127	67	0.527559	NM_004890	Q96EU5	Silent	SNP	ENST00000206020.3	37	CCDS42240.1																																																																																			G|0.978;A|0.022	0.022	strong		0.537	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		A	4863574	G	A	4863574	2	1	22	1	0	0	0	0	0	0	0	1	14983	987	35	2		2	SPAG7	17	4863574	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34	4863574	76331636	8537	13645										
KIF1C	10749	hgsc.bcm.edu	37	chr17	4904564	4904564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaagtgtatcgggacatTggagaagagatgctgctcca	13	8	0	2	rs17707385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4904564T>C	ENST00000320785.5	+	5	588	c.231T>C	c.(229-231)atT>atC	p.I77I		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	77	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATCGGGACATTGGAGAAGAGA	0.532													T|||	236	0.0471246	0.0076	0.0591	5008	,	,		21465	0.0466		0.1133	False		,,,				2504	0.0245				p.I77I	Melanoma(96;1023 1447 10250 19259 33730)	Atlas-SNP	.											.	KIF1C	70	.	0			c.T231C						PASS	.	T		84,4322	70.9+/-108.8	1,82,2120	107	97	101		231	-2.8	1	17	dbSNP_123	101	924,7676	204.2+/-247.0	42,840,3418	no	coding-synonymous	KIF1C	NM_006612.5		43,922,5538	CC,CT,TT		10.7442,1.9065,7.7503		77/1104	4904564	1008,11998	2203	4300	6503	SO:0001819	synonymous_variant	10749	exon5			GGACATTGGAGAA	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.231T>C	17.37:g.4904564T>C		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	210	106	0.504762	NM_006612	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																			C|0.070;N|0.000	0.070	strong		0.532	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			C	4904564	T	C	4904564	2	2	22	1	0	0	0	0	0	0	0	1	8285	1800	63	2		2	KIF1C	17	4904564	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40990	4904564	76290646	8538	13646										
KIF1C	10749	hgsc.bcm.edu	37	chr17	4918122	4918122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccggagcatcccccagccAgatggagaaggtaatggctg	13	11	0	2	rs57144955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4918122A>G	ENST00000320785.5	+	18	2013	c.1656A>G	c.(1654-1656)ccA>ccG	p.P552P	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	552	FHA.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCCCCAGCCAGATGGAGAAG	0.587													A|||	170	0.0339457	0.1225	0.0101	5008	,	,		19813	0.0		0.001	False		,,,				2504	0.0				p.P552P	Melanoma(96;1023 1447 10250 19259 33730)	Atlas-SNP	.											.	KIF1C	70	.	0			c.A1656G						PASS	.	A		454,3952		26,402,1775	41	29	33		1656	-9.6	0.1	17	dbSNP_129	33	4,8594		0,4,4295	no	coding-synonymous	KIF1C	NM_006612.5		26,406,6070	GG,GA,AA		0.0465,10.3041,3.522		552/1104	4918122	458,12546	2203	4299	6502	SO:0001819	synonymous_variant	10749	exon18			CCAGCCAGATGGA	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1656A>G	17.37:g.4918122A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	30	0.47619	NM_006612	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																			A|0.964;G|0.036	0.036	strong		0.587	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			G	4918122	A	G	4918122	2	3	22	1	0	0	0	0	0	0	0	1	8285	175	7	3		3	KIF1C	17	4918122	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13558	4918122	76277088	8539	13647										
KIF1C	10749	hgsc.bcm.edu	37	chr17	4925674	4925674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctggctgacttccgccaCgggcgggctgagattgaggc	16	13	0	3	rs73345356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4925674C>T	ENST00000320785.5	+	22	2655	c.2298C>T	c.(2296-2298)caC>caT	p.H766H	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	766					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ACTTCCGCCACGGGCGGGCTG	0.677													C|||	167	0.0333466	0.1188	0.0115	5008	,	,		17324	0.0		0.002	False		,,,				2504	0.0				p.H766H	Melanoma(96;1023 1447 10250 19259 33730)	Atlas-SNP	.											KIF1C,colon,carcinoma,0,1	KIF1C	70	1	0			c.C2298T						PASS	.	C		432,3962		26,380,1791	19	18	19		2298	-1.4	1	17	dbSNP_130	19	16,8566		0,16,4275	no	coding-synonymous	KIF1C	NM_006612.5		26,396,6066	TT,TC,CC		0.1864,9.8316,3.4525		766/1104	4925674	448,12528	2197	4291	6488	SO:0001819	synonymous_variant	10749	exon22			CCGCCACGGGCGG	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2298C>T	17.37:g.4925674C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_006612	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																			C|0.964;T|0.036	0.036	strong		0.677	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			T	4925674	C	T	4925674	2	4	22	1	0	0	0	0	0	0	0	1	8285	535	19	1		1	KIF1C	17	4925674	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7552	4925674	76269536	8540	13648										
GPR172B	55065	hgsc.bcm.edu	37	chr17	4936336	4936336	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaacatggcaccggcaccAagcagggagcccacttggat	14	12	0	0	rs72822610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:4936336A>T	ENST00000424747.1	-	5	1975	c.1263T>A	c.(1261-1263)ctT>ctA	p.L421L	SLC52A1_ENST00000254853.5_Silent_p.L421L|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	421					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CACCGGCACCAAGCAGGGAGC	0.617													A|||	501	0.10004	0.1445	0.1066	5008	,	,		19163	0.0605		0.1441	False		,,,				2504	0.0307				p.L421L		Atlas-SNP	.											.	.	.	.	0			c.T1263A						PASS	.	A	,	598,3808	263.1+/-265.3	43,512,1648	83	79	81		1263,1263	-1.7	0.1	17	dbSNP_130	81	1231,7369	246.8+/-275.1	83,1065,3152	no	coding-synonymous,coding-synonymous	GPR172B	NM_001104577.1,NM_017986.3	,	126,1577,4800	TT,TA,AA		14.314,13.5724,14.0627	,	421/449,421/449	4936336	1829,11177	2203	4300	6503	SO:0001819	synonymous_variant	55065	exon5			GGCACCAAGCAGG	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1263T>A	17.37:g.4936336A>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	74	41	0.554054	NM_017986	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	CCDS11066.1																																																																																			A|0.868;T|0.132	0.132	strong		0.617	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		T	4936336	A	T	4936336	2	4	22	1	0	0	0	0	0	0	0	1	6670	117	5	5		5	GPR172B	17	4936336	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10662	4936336	76258874	8541	13649										
USP6	9098	hgsc.bcm.edu	37	chr17	5039138	5039138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggacctgagccacatcacCgccttgttcctcctttatct	7	15	2	1	rs3213878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5039138C>T	ENST00000574788.1	+	17	2809	c.579C>T	c.(577-579)acC>acT	p.T193T	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.T193T|USP6_ENST00000332776.4_Silent_p.T193T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	193	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCACATCACCGCCTTGTTCC	0.607			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								C|||	490	0.0978435	0.1853	0.0375	5008	,	,		20475	0.0774		0.1143	False		,,,				2504	0.0266				p.T193T		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213	.	0			c.C579T						PASS	.	C		682,3724	287.2+/-279.2	60,562,1581	126	110	115		579	-1.7	0.2	17	dbSNP_106	115	949,7651	208.0+/-249.6	52,845,3403	no	coding-synonymous	USP6	NM_004505.2		112,1407,4984	TT,TC,CC		11.0349,15.4789,12.5404		193/1407	5039138	1631,11375	2203	4300	6503	SO:0001819	synonymous_variant	9098	exon9			CATCACCGCCTTG	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.579C>T	17.37:g.5039138C>T		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_004505	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																			C|0.883;T|0.117	0.117	strong		0.607	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5039138	C	T	5039138	2	4	22	1	0	0	0	0	0	0	0	1	17083	639	23	1		1	USP6	17	5039138	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102802	5039138	76156072	8542	13650										
USP6	9098	hgsc.bcm.edu	37	chr17	5042715	5042715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcgtttttccacgccctGtcctggtggggctgtccggg	13	13	1	0	rs61740308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5042715G>A	ENST00000574788.1	+	22	3474	c.1244G>A	c.(1243-1245)tGt>tAt	p.C415Y	USP6_ENST00000304328.5_Missense_Mutation_p.C98Y|USP6_ENST00000250066.6_Missense_Mutation_p.C415Y|USP6_ENST00000332776.4_Missense_Mutation_p.C415Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	415					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCCACGCCCTGTCCTGGTGGG	0.652			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G|||	509	0.101637	0.1982	0.0375	5008	,	,		17890	0.0784		0.1153	False		,,,				2504	0.0266				p.C415Y		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213	.	0			c.G1244A						PASS	.	G	TYR/CYS	709,3697	291.3+/-281.4	61,587,1555	45	49	48		1244	0.1	0.1	17	dbSNP_129	48	951,7649	207.3+/-249.1	52,847,3401	yes	missense	USP6	NM_004505.2	194	113,1434,4956	AA,AG,GG		11.0581,16.0917,12.7633	possibly-damaging	415/1407	5042715	1660,11346	2203	4300	6503	SO:0001583	missense	9098	exon14			CGCCCTGTCCTGG	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1244G>A	17.37:g.5042715G>A	ENSP00000460380:p.Cys415Tyr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	85	48	0.564706	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	250	0.11446886446886446	97	0.19715447154471544	16	0.04419889502762431	52	0.09090909090909091	85	0.11213720316622691	G	9.321	1.058159	0.19987	0.160917	0.110581	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.27402	2.42;2.91;1.67	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.80722	P	0.0	P;P	0.42518	0.782;0.676	P;B	0.48738	0.588;0.384	T	0.24368	-1.0162	7	0.72032	D	0.01	.	.	.	.	rs61740308	98;415	P35125-2;P35125	.;UBP6_HUMAN	Y	415;415;98	ENSP00000328010:C415Y;ENSP00000250066:C415Y;ENSP00000305473:C98Y	ENSP00000250066:C415Y	C	+	2	0	USP6	4983439	0.003000	0.15002	0.063000	0.19743	0.063000	0.16089	-0.046000	0.11983	0.132000	0.18615	0.134000	0.15878	TGT	G|0.881;A|0.119	0.119	strong		0.652	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5042715	G	A	5042715	3	1	22	1	0	0	0	0	1	0	0	0	17083	1377	48	2	1294	2	USP6	17	5042715	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3577	5042715	76152495	8543	13651										
USP6	9098	hgsc.bcm.edu	37	chr17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagtggaagtcaatgcccCggctcccaacggacctggat	13	12	1	0	rs61745111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5042837C>T	ENST00000574788.1	+	22	3596	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W|USP6_ENST00000250066.6_Missense_Mutation_p.R456W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	456					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R456W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCAATGCCCCGGCTCCCAAC	0.612			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								C|||	509	0.101637	0.1982	0.0375	5008	,	,		18531	0.0784		0.1153	False		,,,				2504	0.0266				p.R456W		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	USP6,NS,carcinoma,0,1	USP6	213	1	1	Substitution - Missense(1)	lung(1)	c.C1366T						scavenged	.	C	TRP/ARG	710,3696	291.3+/-281.4	62,586,1555	51	59	56		1366	-0.5	0	17	dbSNP_129	56	951,7649	208.3+/-249.8	52,847,3401	yes	missense	USP6	NM_004505.2	101	114,1433,4956	TT,TC,CC		11.0581,16.1144,12.771	benign	456/1407	5042837	1661,11345	2203	4300	6503	SO:0001583	missense	9098	exon14			ATGCCCCGGCTCC	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1366C>T	17.37:g.5042837C>T	ENSP00000460380:p.Arg456Trp	Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	250	0.11446886446886446	97	0.19715447154471544	16	0.04419889502762431	52	0.09090909090909091	85	0.11213720316622691	C	1.018	-0.685710	0.03328	0.161144	0.110581	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.25749	2.19;2.68;1.78	0.266	-0.532	0.11890	.	0.290613	0.37012	N	0.002286	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38373	-0.9664	8	0.87932	D	0	.	.	.	.	rs61745111	139;456	P35125-2;P35125	.;UBP6_HUMAN	W	456;456;139	ENSP00000328010:R456W;ENSP00000250066:R456W;ENSP00000305473:R139W	ENSP00000250066:R456W	R	+	1	2	USP6	4983561	0.025000	0.19082	0.000000	0.03702	0.000000	0.00434	-1.254000	0.02874	-2.211000	0.00737	-2.287000	0.00268	CGG	C|0.881;T|0.119	0.119	strong		0.612	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5042837	C	T	5042837	3	4	22	1	0	0	0	0	1	0	0	0	17083	643	23	1	1416	1	USP6	17	5042837	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122	5042837	76152373	8544	13652										
USP6	9098	hgsc.bcm.edu	37	chr17	5072333	5072333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctcactcagcgctaacaTcagcagcagcccaaaaggtg	8	14	3	0	rs3816913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5072333T>G	ENST00000574788.1	+	35	5730	c.3500T>G	c.(3499-3501)aTc>aGc	p.I1167S	USP6_ENST00000304328.5_Missense_Mutation_p.I850S|USP6_ENST00000250066.6_Missense_Mutation_p.I1167S|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1167	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCGCTAACATCAGCAGCAGC	0.507			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								t|||	513	0.102436	0.1974	0.0418	5008	,	,		19709	0.0794		0.1163	False		,,,				2504	0.0266				p.I1167S		Atlas-SNP	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213	.	0			c.T3500G						PASS	.	G	SER/ILE	703,3703	278.4+/-274.2	61,581,1561	34	34	34		3500	1.2	0	17	dbSNP_107	34	945,7651	196.9+/-241.7	53,839,3406	no	missense	USP6	NM_004505.2	142	114,1420,4967	GG,GT,TT		10.9935,15.9555,12.675	benign	1167/1407	5072333	1648,11354	2203	4298	6501	SO:0001583	missense	9098	exon27			CTAACATCAGCAG	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3500T>G	17.37:g.5072333T>G	ENSP00000460380:p.Ile1167Ser	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	294	121	0.411565	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	246	0.11263736263736264	94	0.1910569105691057	16	0.04419889502762431	52	0.09090909090909091	84	0.11081794195250659	t	0.036	-1.305728	0.01353	0.159555	0.109935	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13778	2.98;2.56	2.35	1.22	0.21188	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.756886	0.13090	N	0.414589	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.24092	0.029;0.097	B;B	0.28011	0.03;0.085	T	0.43605	-0.9381	9	0.07813	T	0.8	.	5.438	0.16492	0.0:0.0:0.2935:0.7065	rs3816913	850;1167	P35125-2;P35125	.;UBP6_HUMAN	S	1167;850	ENSP00000250066:I1167S;ENSP00000305473:I850S	ENSP00000250066:I1167S	I	+	2	0	USP6	5013057	0.058000	0.20735	0.003000	0.11579	0.116000	0.19942	1.968000	0.40500	0.160000	0.19432	-1.396000	0.01147	ATC	T|0.884;G|0.116	0.116	strong		0.507	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		G	5072333	T	G	5072333	3	3	22	1	0	0	0	0	1	0	0	0	17083	1435	50	5	3602	5	USP6	17	5072333	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29496	5072333	76122877	8545	13653										
ZNF594	84622	hgsc.bcm.edu	37	chr17	5085245	5085245	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatctgagctgccctggaaGgtcctactacactgattaca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5085245G>A	ENST00000399604.4	-	1	2447	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	ZNF594_ENST00000575779.1_Silent_p.T769T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	769					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(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCCCTGGAAGGTCCTACTAC	0.413																																					p.T769T		Atlas-SNP	.											.	ZNF594	89	.	0			c.C2307T						PASS	.						205	206	206					17																	5085245		1989	4182	6171	SO:0001819	synonymous_variant	84622	exon2			CTGGAAGGTCCTA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2307C>T	17.37:g.5085245G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	100	18	0.18	NM_032530	Q6RFS0	Silent	SNP	ENST00000399604.4	37	CCDS42241.1																																																																																			.	.	none		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		A	5085245	G	A	5085245	2	1	22	1	0	0	0	0	0	0	0	1	18021	987	35	2		2	ZNF594	17	5085245	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12912	5085245	76109965	8546	13654	284	2								
ZNF594	84622	hgsc.bcm.edu	37	chr17	5085247	5085247	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgagctgccctggaaggTcctactacactgattacacc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5085247T>C	ENST00000399604.4	-	1	2445	c.2305A>G	c.(2305-2307)Acc>Gcc	p.T769A	ZNF594_ENST00000575779.1_Missense_Mutation_p.T769A			Q96JF6	ZN594_HUMAN	zinc finger protein 594	769					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(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCTGGAAGGTCCTACTACAC	0.413																																					p.T769A		Atlas-SNP	.											.	ZNF594	89	.	0			c.A2305G						PASS	.						207	208	208					17																	5085247		1990	4182	6172	SO:0001583	missense	84622	exon2			GGAAGGTCCTACT	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2305A>G	17.37:g.5085247T>C	ENSP00000382513:p.Thr769Ala	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	98	16	0.163265	NM_032530	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.220840	0.00286	.	.	ENSG00000180626	ENST00000399604	T	0.14022	2.54	0.98	-0.251	0.13003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.12831	0.26	0.09310	N	1	B	0.18310	0.027	B	0.04013	0.001	T	0.42616	-0.9441	9	0.02654	T	1	.	4.0333	0.09719	0.0:0.2705:0.0:0.7295	.	769	Q96JF6	ZN594_HUMAN	A	769	ENSP00000382513:T769A	ENSP00000382513:T769A	T	-	1	0	ZNF594	5025971	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-1.239000	0.02916	0.413000	0.25759	0.240000	0.17902	ACC	.	.	none		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		C	5085247	T	C	5085247	3	2	22	1	0	0	0	0	1	0	0	0	18021	1667	58	2	122	2	ZNF594	17	5085247	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2	5085247	76109963	8547	13655	284	2								
ZNF594	84622	hgsc.bcm.edu	37	chr17	5085806	5085806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttacctgatgtctgatgagGtctgagctgccctggaaagc	13	9	2	4	rs114624606	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5085806G>A	ENST00000399604.4	-	1	1886	c.1746C>T	c.(1744-1746)gaC>gaT	p.D582D	ZNF594_ENST00000575779.1_Silent_p.D582D			Q96JF6	ZN594_HUMAN	zinc finger protein 594	582					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(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTCTGATGAGGTCTGAGCTGC	0.453																																					p.D582D		Atlas-SNP	.											.	ZNF594	89	.	0			c.C1746T						PASS	.	G		95,3919		4,87,1916	149	144	145		1746	-2.1	0	17	dbSNP_132	145	1,8411		0,1,4205	no	coding-synonymous	ZNF594	NM_032530.1		4,88,6121	AA,AG,GG		0.0119,2.3667,0.7726		582/808	5085806	96,12330	2007	4206	6213	SO:0001819	synonymous_variant	84622	exon2			GATGAGGTCTGAG	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1746C>T	17.37:g.5085806G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	112	47	0.419643	NM_032530	Q6RFS0	Silent	SNP	ENST00000399604.4	37	CCDS42241.1																																																																																			G|0.990;A|0.010	0.010	strong		0.453	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		A	5085806	G	A	5085806	2	1	22	1	0	0	0	0	0	0	0	1	18021	1252	44	2		2	ZNF594	17	5085806	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	559	5085806	76109404	8548	13656										
ZNF594	84622	hgsc.bcm.edu	37	chr17	5085878	5085879	+	Frame_Shift_Del	DEL	CT	CT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcctggtgaattttctgCtctcccctaagctcctcatc					rs146837771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5085878_5085879delCT	ENST00000399604.4	-	1	1813_1814	c.1673_1674delAG	c.(1672-1674)gagfs	p.E558fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.E558fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	558					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(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAATTTTCTGCTCTCCCCTAAG	0.47														55	0.0109824	0.0378	0.0029	5008	,	,		21001	0.0		0.003	False		,,,				2504	0.0				p.558_559del		Pindel,Atlas-Indel	.											.	ZNF594	89	.	0			c.1674_1675del						PASS	.			154,3700		12,130,1785						-0.1	0		dbSNP_134	128	1,8047		0,1,4023	no	frameshift	ZNF594	NM_032530.1		12,131,5808	A1A1,A1R,RR		0.0124,3.9958,1.3023				155,11747				SO:0001589	frameshift_variant	84622	exon2			.	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1673_1674delAG	17.37:g.5085880_5085881delCT	ENSP00000382513:p.Glu558fs	Somatic	120	.	.		WXS	Illumina HiSeq	Phase_I	117	33	0.282	NM_032530	Q6RFS0	Frame_Shift_Del	DEL	ENST00000399604.4	37	CCDS42241.1																																																																																			CT|0.987;-|0.013	0.013	strong		0.47	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		-	5085879	CT	-	5085878	7	5	22	1	0	1	0	1	0	0	0	0	18021	796	28	0	753	0	ZNF594	17	5085878	Frame_Shift_Del	DEL	CT	TCGA-G8-6324-01A-11D-2210-10	72	5085878	76109332	8549	13657										
RABEP1	9135	hgsc.bcm.edu	37	chr17	5284698	5284698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttaggctaccgttgaacaActaatgtttgaagagaagaa	9	5	0	4	rs1143206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5284698A>G	ENST00000546142.2	+	17	2572	c.2385A>G	c.(2383-2385)caA>caG	p.Q795Q	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.Q752Q|RABEP1_ENST00000408982.2_Silent_p.Q762Q|RABEP1_ENST00000341923.6_Silent_p.Q762Q|RABEP1_ENST00000262477.6_Silent_p.Q795Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	795					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCGTTGAACAACTAATGTTTG	0.368													A|||	2765	0.552117	0.3964	0.4251	5008	,	,		22136	0.8254		0.4394	False		,,,				2504	0.6871				p.Q795Q		Atlas-SNP	.											.	RABEP1	59	.	0			c.A2385G						PASS	.	A	,	1519,2169		324,871,649	77	76	76		2286,2385	-2.4	1	17	dbSNP_86	76	3199,4981		620,1959,1511	no	coding-synonymous,coding-synonymous	RABEP1	NM_001083585.1,NM_004703.4	,	944,2830,2160	GG,GA,AA		39.1076,41.1876,39.754	,	762/830,795/863	5284698	4718,7150	1844	4090	5934	SO:0001819	synonymous_variant	9135	exon17			TGAACAACTAATG	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2385A>G	17.37:g.5284698A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_004703	B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	CCDS45592.1																																																																																			A|0.519;G|0.481	0.481	strong		0.368	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		G	5284698	A	G	5284698	2	3	22	1	0	0	0	0	0	0	0	1	12961	40	2	2		2	RABEP1	17	5284698	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	198820	5284698	75910512	8550	13658										
RABEP1	9135	hgsc.bcm.edu	37	chr17	5284719	5284719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaatgtttgaagagaagaaTaaagctcagagattacagac	9	5	1	5	rs1065482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5284719T>C	ENST00000546142.2	+	17	2593	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.N759N|RABEP1_ENST00000408982.2_Silent_p.N769N|RABEP1_ENST00000341923.6_Silent_p.N769N|RABEP1_ENST00000262477.6_Silent_p.N802N			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	802					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGAGAAGAATAAAGCTCAGA	0.393													C|||	2765	0.552117	0.3964	0.4251	5008	,	,		21936	0.8254		0.4394	False		,,,				2504	0.6871				p.N802N		Atlas-SNP	.											.	RABEP1	59	.	0			c.T2406C						PASS	.	C	,	1531,2177		327,877,650	86	85	85		2307,2406	1.4	1	17	dbSNP_86	85	3199,4993		619,1961,1516	no	coding-synonymous,coding-synonymous	RABEP1	NM_001083585.1,NM_004703.4	,	946,2838,2166	CC,CT,TT		39.0503,41.2891,39.7479	,	769/830,802/863	5284719	4730,7170	1854	4096	5950	SO:0001819	synonymous_variant	9135	exon17			GAAGAATAAAGCT	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2406T>C	17.37:g.5284719T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_004703	B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	CCDS45592.1																																																																																			T|0.500;C|0.500	0.500	strong		0.393	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		C	5284719	T	C	5284719	2	2	22	1	0	0	0	0	0	0	0	1	12961	1403	49	2		2	RABEP1	17	5284719	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	5284719	75910491	8551	13659										
NUP88	4927	hgsc.bcm.edu	37	chr17	5289580	5289580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttcaccatttcccttatAtgttcacccctgtaaaattg	4	12	2	0	rs11209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5289580A>G	ENST00000573584.1	-	17	2681	c.2172T>C	c.(2170-2172)caT>caC	p.H724H	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	724					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTCCCTTATATGTTCACCCC	0.358													G|||	2887	0.576478	0.5061	0.4308	5008	,	,		17870	0.8244		0.4165	False		,,,				2504	0.684				p.H724H		Atlas-SNP	.											.	NUP88	47	.	0			c.T2172C						PASS	.	G		2220,2186	586.2+/-386.4	558,1104,541	224	208	214		2172	4	1	17	dbSNP_52	214	3248,5352	649.5+/-400.6	606,2036,1658	no	coding-synonymous	NUP88	NM_002532.4		1164,3140,2199	GG,GA,AA		37.7674,49.6142,42.0421		724/742	5289580	5468,7538	2203	4300	6503	SO:0001819	synonymous_variant	4927	exon17			CCTTATATGTTCA	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.2172T>C	17.37:g.5289580A>G		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	232	119	0.512931	NM_002532	D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																			A|0.526;G|0.474	0.474	strong		0.358	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		G	5289580	A	G	5289580	2	3	22	1	0	0	0	0	0	0	0	1	10771	446	16	2		2	NUP88	17	5289580	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4861	5289580	75905630	8552	13660										
NUP88	4927	hgsc.bcm.edu	37	chr17	5290033	5290033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtatttacttactcctcTttcaggatggactgaatgca	8	8	2	1	rs1071705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5290033T>C	ENST00000573584.1	-	16	2666	c.2157A>G	c.(2155-2157)aaA>aaG	p.K719K	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	719					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTTACTCCTCTTTCAGGATGG	0.398													C|||	2768	0.552716	0.3994	0.4236	5008	,	,		20862	0.8244		0.4404	False		,,,				2504	0.6871				p.K719K		Atlas-SNP	.											.	NUP88	47	.	0			c.A2157G						PASS	.	C		1852,2554	633.4+/-396.0	411,1030,762	184	170	175		2157	3.5	1	17	dbSNP_86	175	3390,5210	639.9+/-399.5	666,2058,1576	no	coding-synonymous	NUP88	NM_002532.4		1077,3088,2338	CC,CT,TT		39.4186,42.0336,40.3045		719/742	5290033	5242,7764	2203	4300	6503	SO:0001819	synonymous_variant	4927	exon16			CTCCTCTTTCAGG	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.2157A>G	17.37:g.5290033T>C		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	173	78	0.450867	NM_002532	D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																			T|0.566;C|0.434	0.434	strong		0.398	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		C	5290033	T	C	5290033	2	2	22	1	0	0	0	0	0	0	0	1	10771	1606	56	3		3	NUP88	17	5290033	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	453	5290033	75905177	8553	13661										
NUP88	4927	hgsc.bcm.edu	37	chr17	5291126	5291126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatctcctcctttgccaagTcctgtttgagaatgtactgc	8	11	1	1	rs149760662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5291126T>C	ENST00000573584.1	-	12	2251	c.1742A>G	c.(1741-1743)gAc>gGc	p.D581G	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTTTGCCAAGTCCTGTTTGAG	0.522													T|||	5	0.000998403	0.0	0.0014	5008	,	,		15835	0.0		0.003	False		,,,				2504	0.001				p.D581G		Atlas-SNP	.											.	NUP88	47	.	0			c.A1742G						PASS	.	T	GLY/ASP	6,4400	11.4+/-27.6	0,6,2197	96	96	96		1742	4.8	1	17	dbSNP_134	96	44,8556	27.9+/-77.7	0,44,4256	yes	missense	NUP88	NM_002532.4	94	0,50,6453	CC,CT,TT		0.5116,0.1362,0.3844	benign	581/742	5291126	50,12956	2203	4300	6503	SO:0001583	missense	4927	exon12			GCCAAGTCCTGTT	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1742A>G	17.37:g.5291126T>C	ENSP00000458954:p.Asp581Gly	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	119	61	0.512605	NM_002532	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	19.11	3.764327	0.69878	0.001362	0.005116	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	4.76	0.60689	.	0.047661	0.85682	D	0.000000	T	0.48822	0.1521	L	0.38838	1.175	0.52501	D	0.999951	P;B	0.52692	0.955;0.046	P;B	0.51615	0.675;0.04	T	0.51196	-0.8736	9	0.32370	T	0.25	-20.571	13.9189	0.63919	0.0:0.0:0.0:1.0	.	466;581	B4DP20;Q99567	.;NUP88_HUMAN	G	581;466	.	ENSP00000225696:D581G	D	-	2	0	NUP88	5231850	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.299000	0.65716	2.137000	0.66172	0.454000	0.30748	GAC	T|0.998;C|0.002	0.002	strong		0.522	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		C	5291126	T	C	5291126	3	2	22	1	0	0	0	0	1	0	0	0	10771	1667	58	2	507	2	NUP88	17	5291126	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1093	5291126	75904084	8554	13662										
NUP88	4927	hgsc.bcm.edu	37	chr17	5294976	5294976	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaatcctcgaattggagcTggctgcctggaaaaacacag	10	10	0	0	rs14231	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:5294976T>A	ENST00000573584.1	-	10	1898	c.1389A>T	c.(1387-1389)ccA>ccT	p.P463P		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	463					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GAATTGGAGCTGGCTGCCTGG	0.478													T|||	2766	0.552316	0.3971	0.4236	5008	,	,		23299	0.8254		0.4404	False		,,,				2504	0.6871				p.P463P		Atlas-SNP	.											.	NUP88	47	.	0			c.A1389T						PASS	.	T		1846,2560	537.0+/-374.6	407,1032,764	106	93	97		1389	-3.3	0.9	17	dbSNP_52	97	3390,5210	501.8+/-375.5	665,2060,1575	no	coding-synonymous	NUP88	NM_002532.4		1072,3092,2339	AA,AT,TT		39.4186,41.8974,40.2583		463/742	5294976	5236,7770	2203	4300	6503	SO:0001819	synonymous_variant	4927	exon10			TGGAGCTGGCTGC	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1389A>T	17.37:g.5294976T>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	82	43	0.52439	NM_002532	D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																			T|0.571;A|0.429	0.429	strong		0.478	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		A	5294976	T	A	5294976	2	1	22	1	0	0	0	0	0	0	0	1	10771	1567	55	5		5	NUP88	17	5294976	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3850	5294976	75900234	8555	13663										
KIAA0753	9851	hgsc.bcm.edu	37	chr17	6538355	6538355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgaagtactttggggtcGctcctcccatcaagttgggt	12	10	2	1	rs2301873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6538355G>A	ENST00000361413.3	-	2	427	c.69C>T	c.(67-69)agC>agT	p.S23S	KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	23						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTTTGGGGTCGCTCCTCCCAT	0.413													G|||	1684	0.336262	0.2655	0.3271	5008	,	,		16510	0.2897		0.4543	False		,,,				2504	0.365				p.S23S		Atlas-SNP	.											KIAA0753,NS,carcinoma,0,1	KIAA0753	63	1	0			c.C69T						PASS	.	G		1105,2703		158,789,957	108	98	101		69	0.3	0	17	dbSNP_100	101	3516,4718		754,2008,1355	no	coding-synonymous	KIAA0753	NM_014804.2		912,2797,2312	AA,AG,GG		42.701,29.0179,38.374		23/968	6538355	4621,7421	1904	4117	6021	SO:0001819	synonymous_variant	9851	exon2			GGGGTCGCTCCTC		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.69C>T	17.37:g.6538355G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	85	33	0.388235	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	CCDS42247.1																																																																																			G|0.637;A|0.363	0.363	strong		0.413	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		A	6538355	G	A	6538355	2	1	22	1	0	0	0	0	0	0	0	1	8191	1078	38	1		1	KIAA0753	17	6538355	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1243379	6538355	74656855	8556	13664										
FBXO39	162517	hgsc.bcm.edu	37	chr17	6683215	6683215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaagtgaactgatccagCcccaagaccagagctgctgg	11	11	0	5	rs4796555	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6683215C>T	ENST00000321535.4	+	2	158	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	10			P -> S (in dbSNP:rs4796555).							NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACTGATCCAGCCCCAAGACCA	0.537													C|||	1626	0.324681	0.2148	0.2896	5008	,	,		20496	0.6151		0.2107	False		,,,				2504	0.316				p.P10S		Atlas-SNP	.											.	FBXO39	50	.	0			c.C28T						PASS	.	C	SER/PRO	958,3448	361.6+/-315.8	107,744,1352	89	85	86		28	2.3	0.9	17	dbSNP_111	86	1879,6721	334.2+/-320.9	213,1453,2634	yes	missense	FBXO39	NM_153230.2	74	320,2197,3986	TT,TC,CC		21.8488,21.7431,21.813	possibly-damaging	10/443	6683215	2837,10169	2203	4300	6503	SO:0001583	missense	162517	exon2			ATCCAGCCCCAAG	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.28C>T	17.37:g.6683215C>T	ENSP00000321386:p.Pro10Ser	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_153230		Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	740	0.33882783882783885	109	0.22154471544715448	92	0.2541436464088398	380	0.6643356643356644	159	0.20976253298153033	C	12.69	2.013227	0.35511	0.217431	0.218488	ENSG00000177294	ENST00000321535	T	0.54279	0.58	5.56	2.26	0.28386	.	0.525149	0.18834	N	0.129870	T	0.00012	0.0000	L	0.27053	0.805	0.43338	P	0.004612999999999978	B	0.17465	0.022	B	0.14023	0.01	T	0.44221	-0.9342	9	0.10902	T	0.67	-13.5396	4.7906	0.13247	0.1528:0.6137:0.1485:0.085	rs4796555;rs17794696;rs52829409;rs56480343;rs60341795;rs4796555	10	Q8N4B4	FBX39_HUMAN	S	10	ENSP00000321386:P10S	ENSP00000321386:P10S	P	+	1	0	FBXO39	6623939	0.046000	0.20272	0.902000	0.35471	0.970000	0.65996	0.928000	0.28831	0.813000	0.34350	0.561000	0.74099	CCC	C|0.730;N|0.000	.	strong		0.537	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		T	6683215	C	T	6683215	3	4	22	1	0	0	0	0	1	0	0	0	5747	739	26	2	30	2	FBXO39	17	6683215	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	144860	6683215	74511995	8557	13665										
FBXO39	162517	hgsc.bcm.edu	37	chr17	6690161	6690161	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagctgcacctcctcatCatatcctgcaggaagttgtt	10	11	2	0	rs17853331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6690161C>T	ENST00000321535.4	+	3	1216	c.1086C>T	c.(1084-1086)atC>atT	p.I362I		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	362										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACCTCCTCATCATATCCTGCA	0.463													C|||	1544	0.308307	0.1944	0.3026	5008	,	,		18317	0.5823		0.2038	False		,,,				2504	0.2914				p.I362I		Atlas-SNP	.											.	FBXO39	50	.	0			c.C1086T						PASS	.	C		844,3562	333.1+/-302.8	95,654,1454	110	97	102		1086	3.5	1	17	dbSNP_123	102	1817,6783	326.6+/-317.4	195,1427,2678	no	coding-synonymous	FBXO39	NM_153230.2		290,2081,4132	TT,TC,CC		21.1279,19.1557,20.4598		362/443	6690161	2661,10345	2203	4300	6503	SO:0001819	synonymous_variant	162517	exon3			CCTCATCATATCC	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1086C>T	17.37:g.6690161C>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	212	104	0.490566	NM_153230		Silent	SNP	ENST00000321535.4	37	CCDS11082.1																																																																																			C|0.771;T|0.229	0.229	strong		0.463	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		T	6690161	C	T	6690161	2	4	22	1	0	0	0	0	0	0	0	1	5747	816	29	2		2	FBXO39	17	6690161	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6946	6690161	74505049	8558	13666										
TEKT1	83659	hgsc.bcm.edu	37	chr17	6733672	6733672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgagggcaggaacttgggTggaggttgtaatagtttagc	16	4	1	1	rs8078571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6733672T>C	ENST00000338694.2	-	2	153	c.24A>G	c.(22-24)ccA>ccG	p.P8P	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	8						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.P8P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGAACTTGGGTGGAGGTTGTA	0.433													C|||	3029	0.604832	0.9047	0.4323	5008	,	,		18050	0.5615		0.4632	False		,,,				2504	0.5123				p.P8P		Atlas-SNP	.											TEKT1,NS,carcinoma,0,1	TEKT1	49	1	1	Substitution - coding silent(1)	stomach(1)	c.A24G						PASS	.	C		3617,789	317.4+/-295.1	1492,633,78	77	70	72		24	-9.8	0	17	dbSNP_116	72	4021,4579	598.6+/-393.9	964,2093,1243	no	coding-synonymous	TEKT1	NM_053285.1		2456,2726,1321	CC,CT,TT		46.7558,17.9074,41.2733		8/419	6733672	7638,5368	2203	4300	6503	SO:0001819	synonymous_variant	83659	exon2			CTTGGGTGGAGGT		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.24A>G	17.37:g.6733672T>C		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	220	220	1	NM_053285	D3DTM7	Silent	SNP	ENST00000338694.2	37	CCDS11083.1																																																																																			T|0.415;C|0.585	0.585	strong		0.433	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		C	6733672	T	C	6733672	2	2	22	1	0	0	0	0	0	0	0	1	15749	1683	59	2		2	TEKT1	17	6733672	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43511	6733672	74461538	8559	13667										
BCL6B	255877	hgsc.bcm.edu	37	chr17	6930927	6930927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgcactaccacattctcGgggggccctagctgagcgca	12	13	1	1	rs201522060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6930927G>A	ENST00000293805.5	+	9	1521	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	477					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCACATTCTCGGGGGGCCCTA	0.627													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		17141	0.0		0.0	False		,,,				2504	0.0				p.G477R		Atlas-SNP	.											.	BCL6B	85	.	0			c.G1429A						PASS	.	G	ARG/GLY	15,3949		0,15,1967	49	54	53		1429	5.5	1	17		53	1,8327		0,1,4163	yes	missense	BCL6B	NM_181844.3	125	0,16,6130	AA,AG,GG		0.012,0.3784,0.1302	probably-damaging	477/480	6930927	16,12276	1982	4164	6146	SO:0001583	missense	255877	exon9			ATTCTCGGGGGGC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1429G>A	17.37:g.6930927G>A	ENSP00000293805:p.Gly477Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	86	44	0.511628	NM_181844	Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560429	0.45590	0.003784	1.2E-4	ENSG00000161940	ENST00000293805	T	0.07114	3.22	5.47	5.47	0.80525	.	0.340325	0.32161	N	0.006486	T	0.08133	0.0203	L	0.29908	0.895	0.38463	D	0.94726	B	0.22541	0.071	B	0.14578	0.011	T	0.15636	-1.0430	10	0.51188	T	0.08	.	14.8178	0.70048	0.0:0.0:1.0:0.0	.	477	Q8N143	BCL6B_HUMAN	R	477	ENSP00000293805:G477R	ENSP00000293805:G477R	G	+	1	0	BCL6B	6871651	0.978000	0.34361	0.999000	0.59377	0.849000	0.48306	4.025000	0.57225	2.584000	0.87258	0.462000	0.41574	GGG	.	.	weak		0.627	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		A	6930927	G	A	6930927	3	1	22	1	0	0	0	0	1	0	0	0	1377	1116	39	1	1459	1	BCL6B	17	6930927	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	197255	6930927	74264283	8560	13668										
CLEC10A	10462	hgsc.bcm.edu	37	chr17	6979179	6979179	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgctccacccagttgacAgggcagcaggtcccttcagt	12	13	1	1	rs364569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6979179A>G	ENST00000254868.4	-	7	874	c.546T>C	c.(544-546)ccT>ccC	p.P182P	CLEC10A_ENST00000571664.1_Silent_p.P158P|CLEC10A_ENST00000416562.2_Silent_p.P155P|CLEC10A_ENST00000576617.1_Silent_p.P155P	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	182					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCCAGTTGACAGGGCAGCAGG	0.597													g|||	2125	0.424321	0.6936	0.3127	5008	,	,		18008	0.3294		0.3569	False		,,,				2504	0.3067				p.P182P		Atlas-SNP	.											.	CLEC10A	40	.	0			c.T546C						PASS	.	G	,	2888,1518	481.2+/-359.0	945,998,260	78	76	77		474,546	-1.1	0	17	dbSNP_80	77	3040,5560	661.6+/-401.9	546,1948,1806	no	coding-synonymous,coding-synonymous	CLEC10A	NM_006344.2,NM_182906.2	,	1491,2946,2066	GG,GA,AA		35.3488,34.453,45.579	,	158/293,182/317	6979179	5928,7078	2203	4300	6503	SO:0001819	synonymous_variant	10462	exon7			GTTGACAGGGCAG	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.546T>C	17.37:g.6979179A>G		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_182906	A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	CCDS11087.1																																																																																			A|0.544;G|0.456	0.456	strong		0.597	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		G	6979179	A	G	6979179	2	3	22	1	0	0	0	0	0	0	0	1	3495	175	7	3		3	CLEC10A	17	6979179	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48252	6979179	74216031	8561	13669										
CLEC10A	10462	hgsc.bcm.edu	37	chr17	6981353	6981353	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgatgaccagcagcagGaggccgaggcccagggacag	16	11	0	3	rs732828	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:6981353G>C	ENST00000254868.4	-	3	475	c.147C>G	c.(145-147)ctC>ctG	p.L49L	CLEC10A_ENST00000571664.1_Silent_p.L49L|CLEC10A_ENST00000416562.2_Silent_p.L49L|CLEC10A_ENST00000576617.1_Silent_p.L49L	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	49					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCAGCAGCAGGAGGCCGAGGC	0.567													G|||	2065	0.41234	0.792	0.2882	5008	,	,		17759	0.2669		0.2903	False		,,,				2504	0.2628				p.L49L		Atlas-SNP	.											.	CLEC10A	40	.	0			c.C147G						PASS	.	G	,	3092,1314	697.1+/-406.2	1095,902,206	163	174	170		147,147	0.2	0.9	17	dbSNP_86	170	2445,6155	404.5+/-348.2	365,1715,2220	no	coding-synonymous,coding-synonymous	CLEC10A	NM_006344.2,NM_182906.2	,	1460,2617,2426	CC,CG,GG		28.4302,29.823,42.5727	,	49/293,49/317	6981353	5537,7469	2203	4300	6503	SO:0001819	synonymous_variant	10462	exon3			CAGCAGGAGGCCG	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.147C>G	17.37:g.6981353G>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	171	80	0.467836	NM_182906	A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	CCDS11087.1																																																																																			G|0.584;C|0.416	0.416	strong		0.567	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		C	6981353	G	C	6981353	2	2	22	1	0	0	0	0	0	0	0	1	3495	1161	41	4		4	CLEC10A	17	6981353	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2174	6981353	74213857	8562	13670										
ASGR2	433	hgsc.bcm.edu	37	chr17	7011225	7011225	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttgtcacccacgctgccTcctggaagcggaaagccagc	10	15	2	0	rs61731746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7011225T>G	ENST00000380952.2	-	5	618	c.354A>C	c.(352-354)ggA>ggC	p.G118G	ASGR2_ENST00000355035.5_Splice_Site_p.G118G|ASGR2_ENST00000446679.2_Splice_Site_p.G99G|ASGR2_ENST00000254850.7_Splice_Site_p.G94G	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	118					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.G118G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCACGCTGCCTCCTGGAAGCG	0.652													T|||	584	0.116613	0.2738	0.0461	5008	,	,		18665	0.0952		0.0507	False		,,,				2504	0.044				p.G118G		Atlas-SNP	.											ASGR2,NS,carcinoma,0,1	ASGR2	38	1	1	Substitution - coding silent(1)	stomach(1)	c.A354C						PASS	.	T	,,,,	1075,3331	391.2+/-328.0	142,791,1270	193	132	152		354,339,354,282,297	-0.1	0.7	17	dbSNP_129	152	387,8213	125.1+/-183.8	15,357,3928	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ASGR2	NM_001181.4,NM_001201352.1,NM_080912.3,NM_080913.3,NM_080914.2	,,,,	157,1148,5198	GG,GT,TT		4.5,24.3985,11.241	,,,,	118/312,113/307,118/312,94/288,99/293	7011225	1462,11544	2203	4300	6503	SO:0001630	splice_region_variant	433	exon5			GCTGCCTCCTGGA	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.353-1A>C	17.37:g.7011225T>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_080912	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	CCDS32544.1																																																																																			T|0.891;G|0.109	0.109	strong		0.652	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914	Silent	G	7011225	T	G	7011225	5	3	22	1	0	0	0	0	0	0	1	0	1040	1565	54	5	601	5	ASGR2	17	7011225	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29872	7011225	74183985	8563	13671										
DLG4	1742	hgsc.bcm.edu	37	chr17	7099811	7099811	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttctggtttatactgagcGatgatcgtgaccgtctgacc	10	11	2	4	rs17203281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7099811G>A	ENST00000399506.2	-	10	1358	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	DLG4_ENST00000399510.2_Silent_p.I432I|DLG4_ENST00000302955.6_Silent_p.I386I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	389	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TATACTGAGCGATGATCGTGA	0.542													G|||	1232	0.246006	0.1831	0.2349	5008	,	,		22199	0.3155		0.331	False		,,,				2504	0.18				p.I432I		Atlas-SNP	.											.	DLG4	110	.	0			c.C1296T						PASS	.	G	,	781,3401		71,639,1381	76	72	74		1158,1296	-2.8	1	17	dbSNP_123	74	2570,5840		396,1778,2031	no	coding-synonymous,coding-synonymous	DLG4	NM_001128827.1,NM_001365.3	,	467,2417,3412	AA,AG,GG		30.5589,18.6753,26.6121	,	386/722,432/768	7099811	3351,9241	2091	4205	6296	SO:0001819	synonymous_variant	1742	exon12			CTGAGCGATGATC	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1167C>T	17.37:g.7099811G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	123	57	0.463415	NM_001365	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37																																																																																				G|0.742;A|0.258	0.258	strong		0.542	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		A	7099811	G	A	7099811	2	1	22	1	0	0	0	0	0	0	0	1	4557	1048	37	1		1	DLG4	17	7099811	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88586	7099811	74095399	8564	13672										
DVL2	1856	hgsc.bcm.edu	37	chr17	7133609	7133609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgaaggactcactggaaGgatggaggccttgagtcccc	13	10	2	2	rs2074216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7133609G>A	ENST00000005340.5	-	3	687	c.405C>T	c.(403-405)tcC>tcT	p.S135S	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.S135S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	135					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCACTGGAAGGATGGAGGCC	0.622													G|||	1666	0.332668	0.267	0.268	5008	,	,		17320	0.3859		0.3777	False		,,,				2504	0.3661				p.S135S		Atlas-SNP	.											.	DVL2	49	.	0			c.C405T						PASS	.	G		1167,3239	403.3+/-332.7	152,863,1188	88	97	94		405	-0.9	1	17	dbSNP_96	94	3061,5539	463.4+/-366.0	548,1965,1787	no	coding-synonymous	DVL2	NM_004422.2		700,2828,2975	AA,AG,GG		35.593,26.4866,32.5081		135/737	7133609	4228,8778	2203	4300	6503	SO:0001819	synonymous_variant	1856	exon3			CTGGAAGGATGGA	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.405C>T	17.37:g.7133609G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			G|0.674;A|0.326	0.326	strong		0.622	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		A	7133609	G	A	7133609	2	1	22	1	0	0	0	0	0	0	0	1	4836	987	35	2		2	DVL2	17	7133609	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33798	7133609	74061601	8565	13673										
SLC2A4	6517	hgsc.bcm.edu	37	chr17	7187123	7187123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctcatgggcctggccaaTgctgctgcctcctatgaaat	10	13	1	1	rs5435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7187123T>C	ENST00000317370.8	+	4	658	c.390T>C	c.(388-390)aaT>aaC	p.N130N	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.N120N|SLC2A4_ENST00000571308.1_Silent_p.N130N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	130					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCCTGGCCAATGCTGCTGCCT	0.602													C|||	3493	0.697484	0.913	0.6081	5008	,	,		19792	0.625		0.6064	False		,,,				2504	0.638				p.N130N		Atlas-SNP	.											.	SLC2A4	44	.	0			c.T390C						PASS	.	C		3716,690	288.1+/-279.7	1576,564,63	68	61	63		390	-11.5	0	17	dbSNP_52	63	5363,3237	487.6+/-372.2	1696,1971,633	no	coding-synonymous	SLC2A4	NM_001042.2		3272,2535,696	CC,CT,TT		37.6395,15.6605,30.1938		130/510	7187123	9079,3927	2203	4300	6503	SO:0001819	synonymous_variant	6517	exon4			GGCCAATGCTGCT	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.390T>C	17.37:g.7187123T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	104	103	0.990385	NM_001042	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	CCDS11097.1																																																																																			C|0.701;N|0.001	0.701	strong		0.602	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			C	7187123	T	C	7187123	2	2	22	1	0	0	0	0	0	0	0	1	14546	1461	51	2		2	SLC2A4	17	7187123	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53514	7187123	74008087	8566	13674										
NEURL4	84461	hgsc.bcm.edu	37	chr17	7221454	7221454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctctttagaggactagcGgcaggtggtggaccccagca	14	11	1	1	rs73239601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7221454G>A	ENST00000399464.2	-	25	4005	c.3990C>T	c.(3988-3990)gcC>gcT	p.A1330A	NEURL4_ENST00000570460.1_Silent_p.A1306A|NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000315614.7_Silent_p.A1328A|GPS2_ENST00000380728.2_5'Flank|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.P144L|GPS2_ENST00000389167.5_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1330						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						GAGGACTAGCGGCAGGTGGTG	0.592													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18299	0.0		0.0	False		,,,				2504	0.0				p.A1330A		Atlas-SNP	.											.	NEURL4	192	.	0			c.C3990T						PASS	.	G	,	22,4102		0,22,2040	82	93	89		3984,3990	1.4	0.1	17	dbSNP_130	89	1,8389		0,1,4194	no	coding-synonymous,coding-synonymous	NEURL4	NM_001005408.1,NM_032442.2	,	0,23,6234	AA,AG,GG		0.0119,0.5335,0.1838	,	1328/1561,1330/1563	7221454	23,12491	2062	4195	6257	SO:0001819	synonymous_variant	84461	exon25			ACTAGCGGCAGGT		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.3990C>T	17.37:g.7221454G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	CCDS42251.1																																																																																			G|0.999;A|0.001	0.001	strong		0.592	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7221454	G	A	7221454	2	1	22	1	0	0	0	0	0	0	0	1	10347	1103	39	1		1	NEURL4	17	7221454	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34331	7221454	73973756	8567	13675										
NEURL4	84461	hgsc.bcm.edu	37	chr17	7226082	7226082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagtgggaaggacttctcGgtggcagtgttgctggtcgc	17	8	1	0	rs116452797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7226082G>A	ENST00000399464.2	-	16	2712	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	NEURL4_ENST00000570460.1_Silent_p.T875T|NEURL4_ENST00000315614.7_Silent_p.T897T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	899						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						AGGACTTCTCGGTGGCAGTGT	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21184	0.0		0.0	False		,,,				2504	0.0				p.T899T		Atlas-SNP	.											.	NEURL4	192	.	0			c.C2697T						PASS	.	G	,	6,4132		0,6,2063	159	171	167		2691,2697	-4.8	1	17	dbSNP_132	167	0,8428		0,0,4214	no	coding-synonymous,coding-synonymous	NEURL4	NM_001005408.1,NM_032442.2	,	0,6,6277	AA,AG,GG		0.0,0.145,0.0477	,	897/1561,899/1563	7226082	6,12560	2069	4214	6283	SO:0001819	synonymous_variant	84461	exon16			CTTCTCGGTGGCA		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.2697C>T	17.37:g.7226082G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	100	52	0.52	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	CCDS42251.1																																																																																			G|0.999;A|0.001	0.001	strong		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7226082	G	A	7226082	2	1	22	1	0	0	0	0	0	0	0	1	10347	1103	39	1		1	NEURL4	17	7226082	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4628	7226082	73969128	8568	13676										
NLGN2	57555	hgsc.bcm.edu	37	chr17	7318396	7318396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtgaccgagaggacagCgctgaagctgtggagtgtct	17	8	1	3	rs2241233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7318396C>T	ENST00000302926.2	+	5	1039	c.966C>T	c.(964-966)agC>agT	p.S322S	NLGN2_ENST00000575301.1_Silent_p.S322S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	322					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GAGAGGACAGCGCTGAAGCTG	0.667													C|||	3851	0.76897	0.4909	0.8919	5008	,	,		18796	0.9534		0.8499	False		,,,				2504	0.7843				p.S322S		Atlas-SNP	.											.	NLGN2	61	.	0			c.C966T						PASS	.	C		2332,2074	598.1+/-389.0	605,1122,476	45	44	44		966	-3.1	0.7	17	dbSNP_98	44	7339,1261	752.3+/-407.4	3122,1095,83	no	coding-synonymous	NLGN2	NM_020795.2		3727,2217,559	TT,TC,CC		14.6628,47.0722,25.642		322/836	7318396	9671,3335	2203	4300	6503	SO:0001819	synonymous_variant	57555	exon5			GGACAGCGCTGAA	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.966C>T	17.37:g.7318396C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	110	48	0.436364	NM_020795	Q9P2I1	Silent	SNP	ENST00000302926.2	37	CCDS11103.1																																																																																			C|0.234;T|0.766	0.766	strong		0.667	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		T	7318396	C	T	7318396	2	4	22	1	0	0	0	0	0	0	0	1	10462	767	27	1		1	NLGN2	17	7318396	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92314	7318396	73876814	8569	13677										
SPEM1	374768	hgsc.bcm.edu	37	chr17	7324340	7324340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccgccatcgccgtcgaGgctctcccacacgctgtgct	9	19	2	0	rs61741352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7324340G>A	ENST00000323675.3	+	3	371	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	116					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCGCCGTCGAGGCTCTCCCAC	0.602													G|||	229	0.0457268	0.1672	0.0115	5008	,	,		18927	0.0		0.0	False		,,,				2504	0.0				p.G116S		Atlas-SNP	.											.	SPEM1	41	.	0			c.G346A						PASS	.	G	SER/GLY	547,3757		37,473,1642	70	76	74		346	2.7	0	17	dbSNP_129	74	3,8483		0,3,4240	yes	missense	SPEM1	NM_199339.2	56	37,476,5882	AA,AG,GG		0.0354,12.7091,4.3002	possibly-damaging	116/310	7324340	550,12240	2152	4243	6395	SO:0001583	missense	374768	exon3			CGTCGAGGCTCTC	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.346G>A	17.37:g.7324340G>A	ENSP00000315554:p.Gly116Ser	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	165	74	0.448485	NM_199339		Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	83	0.038003663003663	78	0.15853658536585366	5	0.013812154696132596	0	0.0	0	0.0	G	10.79	1.449713	0.26074	0.127091	3.54E-4	ENSG00000181323	ENST00000323383;ENST00000323675	.	.	.	4.7	2.67	0.31697	.	1.055190	0.07527	N	0.911526	T	0.00109	0.0003	L	0.32530	0.975	0.09310	N	1	B	0.32829	0.386	B	0.31101	0.124	T	0.12528	-1.0544	9	0.46703	T	0.11	-0.4131	6.202	0.20581	0.1006:0.1883:0.7111:0.0	rs61741352	116	Q8N4L4	SPEM1_HUMAN	S	65;116	.	ENSP00000315511:G65S	G	+	1	0	SPEM1	7265064	0.004000	0.15560	0.001000	0.08648	0.146000	0.21551	1.315000	0.33608	0.566000	0.29273	0.655000	0.94253	GGC	G|0.962;A|0.038	0.038	strong		0.602	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		A	7324340	G	A	7324340	3	1	22	1	0	0	0	0	1	0	0	0	15036	1000	35	2	356	2	SPEM1	17	7324340	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5944	7324340	73870870	8570	13678										
SPEM1	374768	hgsc.bcm.edu	37	chr17	7324588	7324588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggcatatggtccgagctGggcctaagggcctatgtgta	14	9	0	0	rs78583740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7324588G>A	ENST00000323675.3	+	3	619	c.594G>A	c.(592-594)ctG>ctA	p.L198L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	198					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GGTCCGAGCTGGGCCTAAGGG	0.632													G|||	241	0.048123	0.1762	0.0115	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.0				p.L198L		Atlas-SNP	.											.	SPEM1	41	.	0			c.G594A						PASS	.	G		512,3372		36,440,1466	50	55	53		594	4.8	0.5	17	dbSNP_132	53	3,8221		0,3,4109	no	coding-synonymous	SPEM1	NM_199339.2		36,443,5575	AA,AG,GG		0.0365,13.1823,4.2534		198/310	7324588	515,11593	1942	4112	6054	SO:0001819	synonymous_variant	374768	exon3			CGAGCTGGGCCTA	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.594G>A	17.37:g.7324588G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_199339		Silent	SNP	ENST00000323675.3	37	CCDS42254.1																																																																																			G|0.961;A|0.039	0.039	strong		0.632	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		A	7324588	G	A	7324588	2	1	22	1	0	0	0	0	0	0	0	1	15036	1335	47	2		2	SPEM1	17	7324588	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	248	7324588	73870622	8571	13679										
C17orf74	201243	hgsc.bcm.edu	37	chr17	7330437	7330437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccttgggctacagctcccAggacccccgtgaggtgcggc	13	16	0	1	rs3892554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7330437A>G	ENST00000333870.3	+	3	1201	c.1127A>G	c.(1126-1128)cAg>cGg	p.Q376R	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	376			Q -> R (in dbSNP:rs3892554).			integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TACAGCTCCCAGGACCCCCGT	0.677													G|||	275	0.0549121	0.1997	0.0144	5008	,	,		15995	0.0		0.001	False		,,,				2504	0.0				p.Q376R		Atlas-SNP	.											.	C17orf74	56	.	0			c.A1127G						PASS	.	G	ARG/GLN	610,3590		52,506,1542	26	33	31		1127	3.8	0.9	17	dbSNP_108	31	6,8406		0,6,4200	yes	missense	C17orf74	NM_175734.4	43	52,512,5742	GG,GA,AA		0.0713,14.5238,4.8842	benign	376/502	7330437	616,11996	2100	4206	6306	SO:0001583	missense	201243	exon3			GCTCCCAGGACCC	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1127A>G	17.37:g.7330437A>G	ENSP00000328061:p.Gln376Arg	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_175734		Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	94	0.04304029304029304	89	0.18089430894308944	5	0.013812154696132596	0	0.0	0	0.0	G	0.011	-1.711549	0.00712	0.145238	7.13E-4	ENSG00000184560	ENST00000333870	T	0.21734	1.99	4.81	3.84	0.44239	.	0.000000	0.40144	N	0.001179	T	0.00012	0.0000	N	0.02247	-0.625	0.09310	P	0.9999999828706	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	-11.9907	8.1233	0.30984	0.1913:0.0:0.8087:0.0	rs3892554;rs4069866;rs3892554	376	Q0P670	CQ074_HUMAN	R	376	ENSP00000328061:Q376R	ENSP00000328061:Q376R	Q	+	2	0	C17orf74	7271161	0.809000	0.29036	0.909000	0.35828	0.004000	0.04260	0.841000	0.27613	0.574000	0.29417	-1.383000	0.01170	CAG	A|0.955;G|0.045	0.045	strong		0.677	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		G	7330437	A	G	7330437	3	3	22	1	0	0	0	0	1	0	0	0	1879	188	7	3	1137	3	C17orf74	17	7330437	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5849	7330437	73864773	8572	13680										
TMEM102	284114	hgsc.bcm.edu	37	chr17	7339903	7339903	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacgtcactgagcacgaggCgccggtgtctttggaaaaat	12	10	2	1	rs76805816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7339903C>G	ENST00000323206.1	+	3	878	c.605C>G	c.(604-606)gCg>gGg	p.A202G	FGF11_ENST00000575235.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.A202G|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	202					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GAGCACGAGGCGCCGGTGTCT	0.557													C|||	179	0.0357428	0.1286	0.0115	5008	,	,		18254	0.0		0.001	False		,,,				2504	0.0				p.A202G		Atlas-SNP	.											.	TMEM102	11	.	0			c.C605G						PASS	.	C	GLY/ALA	481,3925	224.3+/-240.5	32,417,1754	90	92	91		605	3.2	0	17	dbSNP_132	91	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM102	NM_178518.2	60	32,419,6052	GG,GC,CC		0.0233,10.9169,3.7137	possibly-damaging	202/509	7339903	483,12523	2203	4300	6503	SO:0001583	missense	284114	exon3			ACGAGGCGCCGGT	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.605C>G	17.37:g.7339903C>G	ENSP00000315387:p.Ala202Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	131	62	0.473282	NM_178518	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	64	0.029304029304029304	59	0.11991869918699187	5	0.013812154696132596	0	0.0	0	0.0	C	9.073	0.997424	0.19043	0.109169	2.33E-4	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.44482	0.92;0.92	5.36	3.25	0.37280	.	1.011090	0.07935	N	0.978275	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.20384	0.029	T	0.05162	-1.0902	10	0.49607	T	0.09	-0.6557	6.9622	0.24603	0.0:0.7316:0.1752:0.0931	.	202	Q8N9M5	TM102_HUMAN	G	202	ENSP00000315387:A202G;ENSP00000379815:A202G	ENSP00000315387:A202G	A	+	2	0	TMEM102	7280627	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.442000	0.06871	1.399000	0.46721	0.655000	0.94253	GCG	C|0.967;G|0.033	0.033	strong		0.557	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		G	7339903	C	G	7339903	3	3	22	1	0	0	0	0	1	0	0	0	16014	768	27	4	611	4	TMEM102	17	7339903	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9466	7339903	73855307	8573	13681										
ZBTB4	57659	hgsc.bcm.edu	37	chr17	7365289	7365289	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcccttctgggttctctcAacccctgccctttccccttc	5	20	3	0	rs114898274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7365289A>T	ENST00000311403.4	-	4	3351	c.3012T>A	c.(3010-3012)gtT>gtA	p.V1004V	ZBTB4_ENST00000380599.4_Silent_p.V1004V	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1004					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGTTCTCTCAACCCCTGCCC	0.617													A|||	41	0.0081869	0.0287	0.0043	5008	,	,		14891	0.0		0.0	False		,,,				2504	0.0				p.V1004V		Atlas-SNP	.											.	ZBTB4	163	.	0			c.T3012A						PASS	.	A	,	88,4318	74.1+/-112.3	1,86,2116	58	64	62		3012,3012	0.3	1	17	dbSNP_132	62	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous	ZBTB4	NM_001128833.1,NM_020899.3	,	1,92,6410	TT,TA,AA		0.0698,1.9973,0.7227	,	1004/1014,1004/1014	7365289	94,12912	2203	4300	6503	SO:0001819	synonymous_variant	57659	exon4			TCTCTCAACCCCT	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.3012T>A	17.37:g.7365289A>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	93	40	0.430108	NM_001128833	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	CCDS11107.1																																																																																			A|0.992;T|0.008	0.008	strong		0.617	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		T	7365289	A	T	7365289	2	4	22	1	0	0	0	0	0	0	0	1	17538	117	5	5		5	ZBTB4	17	7365289	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25386	7365289	73829921	8574	13682										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7385661	7385661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcattggatgtgcctacAgtgcggttcaggtggtgccc	14	10	2	0	rs192630658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7385661A>G	ENST00000412468.2	+	2	473	c.358A>G	c.(358-360)Agt>Ggt	p.S120G	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000380599.4_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	120	EamA 1.					integral component of membrane (GO:0016021)											ATGTGCCTACAGTGCGGTTCA	0.617													A|||	183	0.0365415	0.1309	0.013	5008	,	,		18822	0.0		0.001	False		,,,				2504	0.0				p.S120G		Atlas-SNP	.											.	.	.	.	0			c.A358G						PASS	.	A	GLY/SER,	467,3939	220.4+/-237.8	34,399,1770	139	139	139		358,	4.2	1	17		139	4,8596	3.7+/-12.6	0,4,4296	no	missense,intron	ZBTB4,SLC35G6	NM_001102614.1,NM_020899.3	56,	34,403,6066	GG,GA,AA		0.0465,10.5992,3.6214	possibly-damaging,	120/339,	7385661	471,12535	2203	4300	6503	SO:0001583	missense	643664	exon2			GCCTACAGTGCGG		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.358A>G	17.37:g.7385661A>G	ENSP00000396523:p.Ser120Gly	Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	220	119	0.540909	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	63	0.028846153846153848	57	0.11585365853658537	5	0.013812154696132596	1	0.0017482517482517483	0	0.0	A	14.87	2.665416	0.47677	0.105992	4.65E-4	ENSG00000181222	ENST00000412468	T	0.52057	0.68	4.19	4.19	0.49359	.	.	.	.	.	T	0.00524	0.0017	N	0.24115	0.695	0.43740	D	0.996233	B	0.27286	0.174	B	0.33846	0.171	T	0.01925	-1.1246	9	0.27082	T	0.32	-4.3505	12.5602	0.56277	1.0:0.0:0.0:0.0	.	120	P0C7Q6	S35G6_HUMAN	G	120	ENSP00000396523:S120G	ENSP00000396523:S120G	S	+	1	0	SLC35G6	7326385	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.149000	0.58091	1.671000	0.50874	0.460000	0.39030	AGT	A|0.977;G|0.023	0.023	strong		0.617	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		G	7385661	A	G	7385661	3	3	22	1	0	0	0	0	1	0	0	0	561	188	7	3	364	3	AMAC1L3	17	7385661	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20372	7385661	73809549	8575	13683										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7385774	7385774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccagggtctcagtggctaCgactggtgtggactgttggg	17	8	1	0	rs201649944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7385774C>T	ENST00000412468.2	+	2	586	c.471C>T	c.(469-471)taC>taT	p.Y157Y	ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	157	EamA 1.					integral component of membrane (GO:0016021)											TCAGTGGCTACGACTGGTGTG	0.602													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20504	0.0		0.0	False		,,,				2504	0.0				p.Y157Y		Atlas-SNP	.											.	.	.	.	0			c.C471T						PASS	.	T	,	8,4398	14.3+/-33.2	0,8,2195	182	174	176		471,	-5.2	0.9	17		176	0,8600		0,0,4300	no	coding-synonymous,intron	ZBTB4,SLC35G6	NM_001102614.1,NM_020899.3	,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,	157/339,	7385774	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	643664	exon2			TGGCTACGACTGG		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.471C>T	17.37:g.7385774C>T		Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	235	120	0.510638	NM_001102614		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																			C|0.999;T|0.001	0.001	weak		0.602	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		T	7385774	C	T	7385774	2	4	22	1	0	0	0	0	0	0	0	1	561	547	19	1		1	AMAC1L3	17	7385774	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	113	7385774	73809436	8576	13684										
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386300	7386300	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaacctcagctgtgagaggGaagggaaggtggaggagtga							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7386300G>A	ENST00000412468.2	+	2	1112	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)											CTGTGAGAGGGAAGGGAAGGT	0.557																																					p.E333K		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,-1,1	.	.	1	0			c.G997A						scavenged	.						60	59	59					17																	7386300		2203	4300	6503	SO:0001583	missense	643664	exon2			GAGAGGGAAGGGA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.997G>A	17.37:g.7386300G>A	ENSP00000396523:p.Glu333Lys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	175	5	0.0285714	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322479	0.01320	.	.	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.69	1.44	0.22558	.	.	.	.	.	T	0.14056	0.0340	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.37526	-0.9702	9	0.02654	T	1	-0.2286	4.7772	0.13185	0.2637:0.1728:0.5636:0.0	.	333	P0C7Q6	S35G6_HUMAN	K	333	ENSP00000396523:E333K	ENSP00000396523:E333K	E	+	1	0	SLC35G6	7327024	1.000000	0.71417	0.321000	0.25320	0.451000	0.32288	4.403000	0.59729	0.499000	0.27970	-0.225000	0.12378	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386300	G	A	7386300	3	1	22	1	0	0	0	0	1	0	0	0	561	1175	41	2	1003	2	AMAC1L3	17	7386300	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	526	7386300	73808910	8577	13685	285	2								
AMAC1L3	643664	hgsc.bcm.edu	37	chr17	7386301	7386301	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacctcagctgtgagagggAagggaaggtggaggagtgag							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7386301A>C	ENST00000412468.2	+	2	1113	c.998A>C	c.(997-999)gAa>gCa	p.E333A	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	333						integral component of membrane (GO:0016021)		p.E333A(1)									TGTGAGAGGGAAGGGAAGGTG	0.557																																					p.E333A		Atlas-SNP	.											POLR2A_ENST00000412468,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.A998C						scavenged	.						60	58	59					17																	7386301		2203	4300	6503	SO:0001583	missense	643664	exon2			AGAGGGAAGGGAA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.998A>C	17.37:g.7386301A>C	ENSP00000396523:p.Glu333Ala	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	175	5	0.0285714	NM_001102614		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.225018	0.06022	.	.	ENSG00000181222	ENST00000412468	T	0.26067	1.76	4.69	1.0	0.19881	.	.	.	.	.	T	0.15609	0.0376	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.22626	-1.0211	9	0.36615	T	0.2	-0.2286	5.7938	0.18375	0.4278:0.471:0.1012:0.0	.	333	P0C7Q6	S35G6_HUMAN	A	333	ENSP00000396523:E333A	ENSP00000396523:E333A	E	+	2	0	SLC35G6	7327025	0.886000	0.30341	0.428000	0.26697	0.484000	0.33280	1.649000	0.37281	0.732000	0.32470	0.477000	0.44152	GAA	.	.	none		0.557	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386301	A	C	7386301	3	2	22	1	0	0	0	0	1	0	0	0	561	246	9	5	1004	5	AMAC1L3	17	7386301	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	7386301	73808909	8578	13686	285	2								
POLR2A	5430	hgsc.bcm.edu	37	chr17	7400815	7400815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggccaccatggtggacaaTgagctgcctggcttgccccg	14	13	0	1	rs2228128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7400815T>C	ENST00000322644.6	+	6	1359	c.960T>C	c.(958-960)aaT>aaC	p.N320N	POLR2A_ENST00000572844.1_Silent_p.N320N	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	320					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGTGGACAATGAGCTGCCTG	0.597													T|||	589	0.117612	0.0598	0.1354	5008	,	,		18391	0.0536		0.2664	False		,,,				2504	0.0961				p.N320N		Atlas-SNP	.											.	POLR2A	157	.	0			c.T960C						PASS	.	T		393,4013	196.0+/-220.5	18,357,1828	75	63	67		960	-6.9	0.9	17	dbSNP_98	67	2415,6185	399.4+/-346.4	347,1721,2232	no	coding-synonymous	POLR2A	NM_000937.4		365,2078,4060	CC,CT,TT		28.0814,8.9197,21.59		320/1971	7400815	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	5430	exon6			GGACAATGAGCTG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.960T>C	17.37:g.7400815T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	137	57	0.416058	NM_000937	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																			T|0.818;C|0.182	0.182	strong		0.597	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		C	7400815	T	C	7400815	2	2	22	1	0	0	0	0	0	0	0	1	12214	1461	51	2		2	POLR2A	17	7400815	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14514	7400815	73794395	8579	13687										
POLR2A	5430	hgsc.bcm.edu	37	chr17	7412349	7412349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccaacccccagagcacGgtggtggcagaggatcagga	14	13	1	2	rs2228134	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7412349G>A	ENST00000322644.6	+	21	3951	c.3552G>A	c.(3550-3552)acG>acA	p.T1184T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1184					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCAGAGCACGGTGGTGGCAG	0.547													G|||	380	0.0758786	0.2655	0.0288	5008	,	,		17738	0.0		0.001	False		,,,				2504	0.0082				p.T1184T		Atlas-SNP	.											POLR2A,colon,carcinoma,+1,1	POLR2A	157	1	0			c.G3552A						PASS	.	G		993,3413	370.3+/-319.5	115,763,1325	141	108	119		3552	-11	0	17	dbSNP_98	119	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous	POLR2A	NM_000937.4		115,776,5612	AA,AG,GG		0.1512,22.5374,7.7349		1184/1971	7412349	1006,12000	2203	4300	6503	SO:0001819	synonymous_variant	5430	exon21			GAGCACGGTGGTG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3552G>A	17.37:g.7412349G>A		Somatic	262	1	0.00381679		WXS	Illumina HiSeq	Phase_I	251	135	0.537849	NM_000937	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																			G|0.935;A|0.065	0.065	strong		0.547	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7412349	G	A	7412349	2	1	22	1	0	0	0	0	0	0	0	1	12214	1103	39	1		1	POLR2A	17	7412349	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11534	7412349	73782861	8580	13688										
TNFSF12	8742	hgsc.bcm.edu	37	chr17	7460514	7460514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaattctcagccactgcGgcgagttccctcgggcccca	12	15	1	0	rs143039184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7460514G>A	ENST00000293825.6	+	7	860	c.597G>A	c.(595-597)gcG>gcA	p.A199A	TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	199					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CAGCCACTGCGGCGAGTTCCC	0.667													G|||	7	0.00139776	0.003	0.0043	5008	,	,		13746	0.0		0.0	False		,,,				2504	0.0				p.A199A		Atlas-SNP	.											.	TNFSF12	20	.	0			c.G597A						PASS	.	G	,	14,4392	21.2+/-45.6	0,14,2189	83	65	71		597,	-7.7	0	17	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,intron	TNFSF12,TNFSF12-TNFSF13	NM_003809.2,NM_172089.3	,	0,18,6485	AA,AG,GG		0.0465,0.3177,0.1384	,	199/250,	7460514	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	8742	exon7			CACTGCGGCGAGT	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.597G>A	17.37:g.7460514G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	45	0.535714	NM_003809	Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	CCDS11109.1																																																																																			G|0.999;A|0.001	0.001	strong		0.667	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		A	7460514	G	A	7460514	2	1	22	1	0	0	0	0	0	0	0	1	16300	1103	39	1		1	TNFSF12	17	7460514	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48165	7460514	73734696	8581	13689										
DNAH2	146754	hgsc.bcm.edu	37	chr17	7673922	7673922	+	Silent	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtgactcagctcgacatAgtaccctacaaggataaggg					rs9910089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7673922A>T	ENST00000572933.1	+	26	5606	c.4146A>T	c.(4144-4146)atA>atT	p.I1382I	DNAH2_ENST00000389173.2_Silent_p.I1382I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1382	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)				AGCTCGACATAGTACCCTACA	0.542													A|||	265	0.0529153	0.1301	0.0259	5008	,	,		21225	0.0		0.0368	False		,,,				2504	0.0389				p.I1382I		Atlas-SNP	.											.	DNAH2	498	.	0			c.A4146T						PASS	.	A		439,3967	212.2+/-232.1	29,381,1793	87	84	85		4146	1.8	1	17	dbSNP_119	85	248,8352	97.5+/-159.1	4,240,4056	no	coding-synonymous	DNAH2	NM_020877.2		33,621,5849	TT,TA,AA		2.8837,9.9637,5.2822		1382/4428	7673922	687,12319	2203	4300	6503	SO:0001819	synonymous_variant	146754	exon25			CGACATAGTACCC	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.4146A>T	17.37:g.7673922A>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	124	67	0.540323	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																			A|0.949;T|0.051	0.051	strong		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7673922	A	T	7673922	2	4	22	1	0	0	0	0	0	0	0	1	4602	410	15	5		5	DNAH2	17	7673922	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	213408	7673922	73521288	8582	13690	286	2								
DNAH2	146754	hgsc.bcm.edu	37	chr17	7673928	7673928	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcagctcgacatagtaccCtacaaggataagggccatca					rs9909288	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7673928C>G	ENST00000572933.1	+	26	5612	c.4152C>G	c.(4150-4152)ccC>ccG	p.P1384P	DNAH2_ENST00000389173.2_Silent_p.P1384P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1384	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)				ACATAGTACCCTACAAGGATA	0.542													C|||	1793	0.358027	0.3404	0.4424	5008	,	,		21160	0.374		0.2913	False		,,,				2504	0.3742				p.P1384P		Atlas-SNP	.											.	DNAH2	498	.	0			c.C4152G						PASS	.	C		1416,2990	461.9+/-353.1	225,966,1012	86	83	84		4152	5.6	1	17	dbSNP_119	84	2193,6407	374.2+/-337.3	278,1637,2385	no	coding-synonymous	DNAH2	NM_020877.2		503,2603,3397	GG,GC,CC		25.5,32.138,27.7487		1384/4428	7673928	3609,9397	2203	4300	6503	SO:0001819	synonymous_variant	146754	exon25			AGTACCCTACAAG	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.4152C>G	17.37:g.7673928C>G		Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																			C|0.704;G|0.296	0.296	strong		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7673928	C	G	7673928	2	3	22	1	0	0	0	0	0	0	0	1	4602	668	24	4		4	DNAH2	17	7673928	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	7673928	73521282	8583	13691	286	2								
DNAH2	146754	hgsc.bcm.edu	37	chr17	7722048	7722048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcactggtcatcaacatcGcggctggtaaaaggaagctc	10	11	3	0	rs61743907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7722048G>A	ENST00000572933.1	+	70	12084	c.10624G>A	c.(10624-10626)Gcg>Acg	p.A3542T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3542T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3542	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)				CATCAACATCGCGGCTGGTAA	0.642													G|||	52	0.0103834	0.0363	0.0058	5008	,	,		20147	0.0		0.0	False		,,,				2504	0.0				p.A3542T		Atlas-SNP	.											.	DNAH2	498	.	0			c.G10624A						PASS	.	G	THR/ALA	146,4260	102.5+/-141.1	2,142,2059	119	107	111		10624	3.4	0.1	17	dbSNP_129	111	0,8600		0,0,4300	yes	missense	DNAH2	NM_020877.2	58	2,142,6359	AA,AG,GG		0.0,3.3137,1.1226	probably-damaging	3542/4428	7722048	146,12860	2203	4300	6503	SO:0001583	missense	146754	exon69			AACATCGCGGCTG	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.10624G>A	17.37:g.7722048G>A	ENSP00000458355:p.Ala3542Thr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	G	21.0	4.082529	0.76528	0.033137	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22134	1.97	4.34	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	M	0.65498	2.005	0.80722	D	1	P;P	0.42735	0.749;0.788	B;P	0.44422	0.321;0.449	T	0.01702	-1.1292	10	0.22706	T	0.39	.	11.1468	0.48434	0.0914:0.0:0.9086:0.0	rs61743907	3503;3542	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3503;3542	ENSP00000373825:A3542T	ENSP00000353818:A3503T	A	+	1	0	DNAH2	7662773	1.000000	0.71417	0.117000	0.21633	0.933000	0.57130	5.115000	0.64655	1.045000	0.40225	0.563000	0.77884	GCG	G|0.989;A|0.011	0.011	strong		0.642	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7722048	G	A	7722048	3	1	22	1	0	0	0	0	1	0	0	0	4602	1087	38	1	10898	1	DNAH2	17	7722048	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48120	7722048	73473162	8584	13692										
CHD3	1107	hgsc.bcm.edu	37	chr17	7792326	7792326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcctgtgtgatgaaggCggcagacactgtgatcctgt	12	9	1	4	rs931543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7792326C>T	ENST00000330494.7	+	1	158	c.8C>T	c.(7-9)gCg>gTg	p.A3V	CHD3_ENST00000380358.4_Intron|CHD3_ENST00000358181.4_Missense_Mutation_p.A3V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	3			A -> V (in dbSNP:rs931543).		centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGATGAAGGCGGCAGACACT	0.468													T|||	392	0.0782748	0.2179	0.062	5008	,	,		18301	0.0278		0.0239	False		,,,				2504	0.0092				p.A3V		Atlas-SNP	.											.	CHD3	169	.	0			c.C8T						PASS	.	T	,VAL/ALA,VAL/ALA	865,3541		76,713,1414	151	155	154		,8,8	1.3	0.4	17	dbSNP_86	154	223,8377		4,215,4081	yes	intron,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	,64,64	80,928,5495	TT,TC,CC		2.593,19.6323,8.3654	,,	,3/2001,3/1967	7792326	1088,11918	2203	4300	6503	SO:0001583	missense	1107	exon1			TGAAGGCGGCAGA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.8C>T	17.37:g.7792326C>T	ENSP00000332628:p.Ala3Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_001005273	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	167	0.07646520146520147	105	0.21341463414634146	21	0.058011049723756904	23	0.04020979020979021	18	0.023746701846965697	N	14.54	2.564799	0.45694	0.196323	0.02593	ENSG00000170004	ENST00000358181;ENST00000330494	D;D	0.89552	-2.53;-2.53	3.7	1.29	0.21616	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.03394	-1.1041	8	0.16896	T	0.51	.	5.2159	0.15342	0.3615:0.5187:0.1197:0.0	rs931543;rs58342197;rs931543	3;3	Q12873-2;Q12873	.;CHD3_HUMAN	V	3	ENSP00000350907:A3V;ENSP00000332628:A3V	ENSP00000332628:A3V	A	+	2	0	CHD3	7733051	0.033000	0.19621	0.446000	0.26920	0.797000	0.45037	0.104000	0.15313	0.096000	0.17463	-0.398000	0.06409	GCG	C|0.915;T|0.085	0.085	strong		0.468	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		T	7792326	C	T	7792326	3	4	22	1	0	0	0	0	1	0	0	0	3326	768	27	1	291	1	CHD3	17	7792326	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70278	7792326	73402884	8585	13693										
CNTROB	116840	hgsc.bcm.edu	37	chr17	7843053	7843053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggagagccaggctcagCtggaaagggagaaggtaaaa	17	5	1	2	rs11078719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7843053C>T	ENST00000563694.1	+	8	2075	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	CNTROB_ENST00000380262.3_Silent_p.L384L|CNTROB_ENST00000565740.1_Silent_p.L384L|CNTROB_ENST00000380255.3_Silent_p.L384L	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	384	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCAGGCTCAGCTGGAAAGGGA	0.522													T|||	2979	0.594848	0.4433	0.6398	5008	,	,		20015	0.8016		0.4274	False		,,,				2504	0.727				p.L384L		Atlas-SNP	.											.	CNTROB	61	.	0			c.C1150T						PASS	.	T	,	2044,2362	578.7+/-384.7	482,1080,641	45	48	47		1150,1150	-6.8	0.2	17	dbSNP_120	47	3745,4853	586.7+/-392.1	829,2087,1383	no	coding-synonymous,coding-synonymous	CNTROB	NM_001037144.5,NM_053051.3	,	1311,3167,2024	TT,TC,CC		43.5566,46.3913,44.5171	,	384/926,384/904	7843053	5789,7215	2203	4299	6502	SO:0001819	synonymous_variant	116840	exon8			GCTCAGCTGGAAA	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1150C>T	17.37:g.7843053C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	CCDS11126.1																																																																																			C|0.506;T|0.494	0.494	strong		0.522	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		T	7843053	C	T	7843053	2	4	22	1	0	0	0	0	0	0	0	1	3651	796	28	2		2	CNTROB	17	7843053	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50727	7843053	73352157	8586	13694										
CNTROB	116840	hgsc.bcm.edu	37	chr17	7847955	7847955	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcccgccgcccaaccctcCagtacgccttaccccttgag	6	21	1	1	rs11650083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7847955C>A	ENST00000563694.1	+	12	2658	c.1733C>A	c.(1732-1734)cCa>cAa	p.P578Q	CNTROB_ENST00000380262.3_Splice_Site_p.P578Q|CNTROB_ENST00000565740.1_Splice_Site_p.P578Q|CNTROB_ENST00000380255.3_Intron	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	578	Pro-rich.|Required for centrosome localization.		P -> Q (in dbSNP:rs11650083). {ECO:0000269|PubMed:11984006, ECO:0000269|PubMed:14702039}.		centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCCAACCCTCCAGTACGCCTT	0.557													C|||	3028	0.604633	0.447	0.6614	5008	,	,		4301	0.8016		0.4493	False		,,,				2504	0.7342				p.P578Q		Atlas-SNP	.											CNTROB,colon,carcinoma,0,1	CNTROB	61	1	0			c.C1733A						PASS	.	C	GLN/PRO,GLN/PRO	2082,2324	571.4+/-383.1	501,1080,622	99	91	94		1733,1733	-2.4	0	17	dbSNP_120	94	3952,4648	547.5+/-385.2	914,2124,1262	yes	missense-near-splice,missense-near-splice	CNTROB	NM_001037144.5,NM_053051.3	76,76	1415,3204,1884	AA,AC,CC		45.9535,47.2537,46.394	benign,benign	578/926,578/904	7847955	6034,6972	2203	4300	6503	SO:0001630	splice_region_variant	116840	exon12			ACCCTCCAGTACG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1734+1C>A	17.37:g.7847955C>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	1225	0.5608974358974359	234	0.47560975609756095	220	0.6077348066298343	424	0.7412587412587412	347	0.4577836411609499	C	8.908	0.957899	0.18507	0.472537	0.459535	ENSG00000170037	ENST00000380262	T	0.38077	1.16	4.56	-2.37	0.06643	.	1.024840	0.07770	N	0.951533	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.12156	0.001;0.001;0.007	T	0.40757	-0.9546	9	0.10902	T	0.67	-1.0583	4.5619	0.12165	0.5422:0.2684:0.0:0.1895	rs11650083;rs52795073;rs57150255;rs11650083	578;578;578	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	Q	578	ENSP00000369614:P578Q	ENSP00000369614:P578Q	P	+	2	0	CNTROB	7788680	0.021000	0.18746	0.002000	0.10522	0.010000	0.07245	-0.104000	0.10923	-0.113000	0.11958	0.561000	0.74099	CCA	C|0.491;A|0.509	0.509	strong		0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051	Missense_Mutation	A	7847955	C	A	7847955	5	1	22	1	0	0	0	0	0	0	1	0	3651	608	21	4	1779	4	CNTROB	17	7847955	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4902	7847955	73347255	8587	13695										
CNTROB	116840	hgsc.bcm.edu	37	chr17	7849087	7849087	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccgggcctcaggagccCgagaaggaggagaggagggt	19	10	1	2	rs4462665	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7849087C>G	ENST00000563694.1	+	13	2701	c.1776C>G	c.(1774-1776)ccC>ccG	p.P592P	CNTROB_ENST00000380262.3_Silent_p.P592P|CNTROB_ENST00000380255.3_Missense_Mutation_p.P538R|CNTROB_ENST00000565740.1_Silent_p.P592P	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	592	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTCAGGAGCCCGAGAAGGAGG	0.602													G|||	3160	0.63099	0.5424	0.67	5008	,	,		16148	0.8016		0.4493	False		,,,				2504	0.7342				p.P592P		Atlas-SNP	.											CNTROB,colon,carcinoma,0,1	CNTROB	61	1	0			c.C1776G						PASS	.	G	,	2443,1963	552.7+/-378.6	670,1103,430	57	59	59		1776,1776	-5.3	0	17	dbSNP_111	59	3953,4647	599.3+/-394.1	915,2123,1262	no	coding-synonymous,coding-synonymous	CNTROB	NM_001037144.5,NM_053051.3	,	1585,3226,1692	GG,GC,CC		45.9651,44.5529,49.1773	,	592/926,592/904	7849087	6396,6610	2203	4300	6503	SO:0001819	synonymous_variant	116840	exon13			GGAGCCCGAGAAG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1776C>G	17.37:g.7849087C>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	CCDS11126.1	1270	0.5815018315018315	277	0.5630081300813008	222	0.6132596685082873	424	0.7412587412587412	347	0.4577836411609499	G	0.238	-1.015843	0.02078	0.554471	0.459651	ENSG00000170037	ENST00000380255	T	0.46451	0.87	5.48	-5.31	0.02730	.	0.553031	0.16472	N	0.212908	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.13980	-1.0489	6	0.27082	T	0.32	0.0029	7.964	0.30087	0.3758:0.2132:0.411:0.0	rs4462665;rs59940402;rs4462665	.	.	.	R	538	ENSP00000369605:P538R	ENSP00000369605:P538R	P	+	2	0	CNTROB	7789812	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-1.603000	0.02077	-1.742000	0.01342	-2.784000	0.00117	CCG	C|0.474;G|0.526	0.526	strong		0.602	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		G	7849087	C	G	7849087	2	3	22	1	0	0	0	0	0	0	0	1	3651	639	23	4		4	CNTROB	17	7849087	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1132	7849087	73346123	8588	13696										
GUCY2D	3000	hgsc.bcm.edu	37	chr17	7907189	7907189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtgatcatggtgatgcaCtcggtgctgctgggtggcga	17	8	1	2	rs3829789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7907189C>T	ENST00000254854.4	+	3	891	c.741C>T	c.(739-741)caC>caT	p.H247H		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	247					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TGGTGATGCACTCGGTGCTGC	0.687													C|||	561	0.112021	0.0605	0.1037	5008	,	,		15826	0.2103		0.1034	False		,,,				2504	0.0951				p.H247H		Atlas-SNP	.											.	GUCY2D	82	.	0			c.C741T						PASS	.	C		351,4055	179.4+/-207.9	12,327,1864	47	43	44		741	-1.2	1	17	dbSNP_107	44	1059,7541	220.5+/-258.2	73,913,3314	no	coding-synonymous	GUCY2D	NM_000180.3		85,1240,5178	TT,TC,CC		12.314,7.9664,10.8412		247/1104	7907189	1410,11596	2203	4300	6503	SO:0001819	synonymous_variant	3000	exon3			GATGCACTCGGTG	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.741C>T	17.37:g.7907189C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_000180	Q6LEA7	Silent	SNP	ENST00000254854.4	37	CCDS11127.1																																																																																			C|0.893;T|0.107	0.107	strong		0.687	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7907189	C	T	7907189	2	4	22	1	0	0	0	0	0	0	0	1	6897	564	20	2		2	GUCY2D	17	7907189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58102	7907189	73288021	8589	13697										
GUCY2D	3000	hgsc.bcm.edu	37	chr17	7915912	7915912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaggtgctaccggagcctCccagagcggagggtaagagt	16	9	0	3	rs34598902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7915912C>T	ENST00000254854.4	+	10	2251	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	701	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> S (polymorphism that at homozygosity may be associated with Leber congenital amaurosis in some populations; dbSNP:rs34598902). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:21602930}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACCGGAGCCTCCCAGAGCGGA	0.592													C|||	417	0.0832668	0.0378	0.0576	5008	,	,		15329	0.2173		0.0169	False		,,,				2504	0.093				p.P701S		Atlas-SNP	.											.	GUCY2D	82	.	0			c.C2101T	GRCh37	CM994059	GUCY2D	M	rs34598902	PASS	.	C	SER/PRO	171,4235	109.5+/-147.8	0,171,2032	60	60	60	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2101	4.4	0.4	17	dbSNP_126	60	165,8435	75.4+/-138.0	1,163,4136	yes	missense	GUCY2D	NM_000180.3	74	1,334,6168	TT,TC,CC		1.9186,3.8811,2.5834	benign	701/1104	7915912	336,12670	2203	4300	6503	SO:0001583	missense	3000	exon10			GAGCCTCCCAGAG	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2101C>T	17.37:g.7915912C>T	ENSP00000254854:p.Pro701Ser	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	38	24	0.631579	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	180	0.08241758241758242	16	0.032520325203252036	19	0.052486187845303865	129	0.22552447552447552	16	0.021108179419525065	C	13.81	2.347301	0.41599	0.038811	0.019186	ENSG00000132518	ENST00000254854	D	0.81499	-1.5	5.34	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000152	T	0.00073	0.0002	N	0.21545	0.675	0.80722	P	0.0	P	0.42871	0.792	B	0.42692	0.395	T	0.05099	-1.0906	9	0.19590	T	0.45	.	9.328	0.38005	0.0:0.774:0.1461:0.0799	rs34598902	701	Q02846	GUC2D_HUMAN	S	701	ENSP00000254854:P701S	ENSP00000254854:P701S	P	+	1	0	GUCY2D	7856637	0.010000	0.17322	0.373000	0.26003	0.239000	0.25481	2.216000	0.42871	1.494000	0.48533	-0.142000	0.14014	CCC	C|0.956;T|0.044	0.044	strong		0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7915912	C	T	7915912	3	4	22	1	0	0	0	0	1	0	0	0	6897	855	30	2	2135	2	GUCY2D	17	7915912	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8723	7915912	73279298	8590	13698										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7942785	7942785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaggcgcccccagtgctgCccctgctggggcccctggcc	13	19	0	0	rs78230493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7942785C>G	ENST00000380183.4	+	2	368	c.229C>G	c.(229-231)Ccc>Gcc	p.P77A	ALOX15B_ENST00000573359.1_Missense_Mutation_p.P77A|ALOX15B_ENST00000572022.1_Missense_Mutation_p.P77A|ALOX15B_ENST00000380173.2_Missense_Mutation_p.P77A	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	77	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCCAGTGCTGCCCCTGCTGGG	0.692													C|||	175	0.0349441	0.1241	0.0144	5008	,	,		9830	0.0		0.001	False		,,,				2504	0.0				p.P77A		Atlas-SNP	.											.	ALOX15B	66	.	0			c.C229G						PASS	.	C	ALA/PRO,ALA/PRO,ALA/PRO	282,4080		13,256,1912	8	9	9		229,229,229	-0.4	0	17	dbSNP_131	9	3,8557		0,3,4277	no	missense,missense,missense	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	27,27,27	13,259,6189	GG,GC,CC		0.035,6.4649,2.2055	possibly-damaging,possibly-damaging,possibly-damaging	77/648,77/603,77/677	7942785	285,12637	2181	4280	6461	SO:0001583	missense	247	exon2			GTGCTGCCCCTGC	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.229C>G	17.37:g.7942785C>G	ENSP00000369530:p.Pro77Ala	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	22	15	0.681818	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	69	0.03159340659340659	64	0.13008130081300814	5	0.013812154696132596	0	0.0	0	0.0	C	10.09	1.253985	0.22965	0.064649	3.5E-4	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.20738	2.05;2.05	4.15	-0.36	0.12568	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	2.042930	0.02987	N	0.146355	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22800	0.075;0.061;0.061;0.075	B;B;B;B	0.29524	0.071;0.043;0.043;0.103	T	0.31806	-0.9930	10	0.40728	T	0.16	-4.4415	7.6122	0.28137	0.0:0.6248:0.0:0.3752	.	77;77;77;77	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	A	77	ENSP00000369520:P77A;ENSP00000369530:P77A	ENSP00000344337:P77A	P	+	1	0	ALOX15B	7883510	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.527000	0.06200	-0.237000	0.09739	0.591000	0.81541	CCC	C|0.966;G|0.034	0.034	strong		0.692	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			G	7942785	C	G	7942785	3	3	22	1	0	0	0	0	1	0	0	0	539	739	26	4	235	4	ALOX15B	17	7942785	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26873	7942785	73252425	8591	13699										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7948175	7948175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgagcactggcaggaggaCgccttcttcgcctcccagtt	11	13	1	1	rs6503070	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7948175C>T	ENST00000380183.4	+	6	844	c.705C>T	c.(703-705)gaC>gaT	p.D235D	ALOX15B_ENST00000573359.1_Silent_p.D235D|ALOX15B_ENST00000572022.1_Silent_p.D235D|ALOX15B_ENST00000380173.2_Silent_p.D235D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	235	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.D235D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCAGGAGGACGCCTTCTTCG	0.617													T|||	2991	0.597244	0.8699	0.5403	5008	,	,		12415	0.4087		0.4404	False		,,,				2504	0.6247				p.D235D		Atlas-SNP	.											ALOX15B,NS,carcinoma,0,1	ALOX15B	66	1	1	Substitution - coding silent(1)	stomach(1)	c.C705T						PASS	.	T	,,	3486,920	351.6+/-311.3	1380,726,97	94	63	73		705,705,705	-4.8	0.2	17	dbSNP_116	73	3723,4877	616.5+/-396.5	817,2089,1394	no	coding-synonymous,coding-synonymous,coding-synonymous	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	,,	2197,2815,1491	TT,TC,CC		43.2907,20.8806,44.5717	,,	235/648,235/603,235/677	7948175	7209,5797	2203	4300	6503	SO:0001819	synonymous_variant	247	exon6			GGAGGACGCCTTC	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.705C>T	17.37:g.7948175C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	188	186	0.989362	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	CCDS11128.1																																																																																			A|0.000;C|0.449;T|0.551	0.551	strong		0.617	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7948175	C	T	7948175	2	4	22	1	0	0	0	0	0	0	0	1	539	535	19	1		1	ALOX15B	17	7948175	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5390	7948175	73247035	8592	13700										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7950394	7950394	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatctggggtgcagtggaacGgtgaggggccgtccctggag	20	8	1	1	rs9895916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7950394G>A	ENST00000380183.4	+	10	1596	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000572022.1_Splice_Site_p.R486H|ALOX15B_ENST00000380173.2_Splice_Site_p.R457H	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	486	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		R -> H (in dbSNP:rs9895916). {ECO:0000269|PubMed:11839751}.		apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGTGGAACGGTGAGGGGCC	0.627													G|||	586	0.117013	0.2337	0.0288	5008	,	,		17866	0.0645		0.0119	False		,,,				2504	0.184				p.R486H		Atlas-SNP	.											ALOX15B,caecum,carcinoma,+1,2	ALOX15B	66	2	0			c.G1457A						PASS	.	G	HIS/ARG,,HIS/ARG	888,3518	342.8+/-307.3	91,706,1406	60	61	61		1370,,1457	0.2	0.1	17	dbSNP_119	61	168,8432	78.9+/-141.6	2,164,4134	yes	missense-near-splice,intron,missense-near-splice	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	29,,29	93,870,5540	AA,AG,GG		1.9535,20.1543,8.1193	benign,,benign	457/648,,486/677	7950394	1056,11950	2203	4300	6503	SO:0001630	splice_region_variant	247	exon10			TGGAACGGTGAGG	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1457+1G>A	17.37:g.7950394G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	47	25	0.531915	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	161	0.07371794871794872	99	0.20121951219512196	14	0.03867403314917127	41	0.07167832167832168	7	0.009234828496042216	G	15.53	2.859695	0.51376	0.201543	0.019535	ENSG00000179593	ENST00000380173;ENST00000380183	D;D	0.90324	-2.65;-2.65	4.69	0.219	0.15274	Lipoxygenase, C-terminal (3);	0.391636	0.31673	N	0.007255	T	0.00384	0.0012	L	0.51914	1.62	0.28434	P	0.9171212	B;B;B	0.29862	0.259;0.218;0.164	B;B;B	0.27715	0.056;0.049;0.082	T	0.19353	-1.0308	9	0.48119	T	0.1	-1.7759	5.3026	0.15785	0.2424:0.0:0.616:0.1417	rs9895916	486;457;486	B4DNW8;O15296-4;O15296	.;.;LX15B_HUMAN	H	457;486	ENSP00000369520:R457H;ENSP00000369530:R486H	ENSP00000369520:R457H	R	+	2	0	ALOX15B	7891119	1.000000	0.71417	0.121000	0.21740	0.892000	0.51952	3.649000	0.54417	-0.093000	0.12396	0.655000	0.94253	CGC	G|0.923;A|0.077	0.077	strong		0.627	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		Missense_Mutation	A	7950394	G	A	7950394	5	1	22	1	0	0	0	0	0	0	1	0	539	1130	39	1	1495	1	ALOX15B	17	7950394	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2219	7950394	73244816	8593	13701										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7950952	7950952	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgatattcacctgctcCgccaagcatgcggctgtcag	11	12	2	1	rs9898751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7950952C>A	ENST00000380183.4	+	12	1789	c.1650C>A	c.(1648-1650)tcC>tcA	p.S550S	ALOX15B_ENST00000573359.1_Silent_p.S476S|ALOX15B_ENST00000572022.1_Silent_p.S538S|ALOX15B_ENST00000380173.2_Silent_p.S521S	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	550	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.S550S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCACCTGCTCCGCCAAGCATG	0.627													A|||	2241	0.447484	0.5855	0.5043	5008	,	,		18084	0.3423		0.4105	False		,,,				2504	0.3671				p.S550S		Atlas-SNP	.											ALOX15B,NS,carcinoma,0,2	ALOX15B	66	2	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|stomach(1)	c.C1650A						scavenged	.	A	,,	2378,2028	556.3+/-379.5	642,1094,467	47	41	43		1563,1428,1650	-1.7	0.9	17	dbSNP_119	43	3429,5171	627.2+/-397.9	699,2031,1570	no	coding-synonymous,coding-synonymous,coding-synonymous	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	,,	1341,3125,2037	AA,AC,CC		39.8721,46.0281,44.6486	,,	521/648,476/603,550/677	7950952	5807,7199	2203	4300	6503	SO:0001819	synonymous_variant	247	exon12			CTGCTCCGCCAAG	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1650C>A	17.37:g.7950952C>A		Somatic	92	1	0.0108696		WXS	Illumina HiSeq	Phase_I	92	45	0.48913	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	CCDS11128.1																																																																																			C|0.565;A|0.435	0.435	strong		0.627	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			A	7950952	C	A	7950952	2	1	22	1	0	0	0	0	0	0	0	1	539	639	23	4		4	ALOX15B	17	7950952	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	558	7950952	73244258	8594	13702										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7951149	7951149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctggcaacatgcgagggCttcatagccaccctcccacc	10	17	1	0	rs9904554	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7951149C>T	ENST00000380183.4	+	13	1906	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALOX15B_ENST00000380173.2_Silent_p.G560G|ALOX15B_ENST00000573359.1_Silent_p.G515G|ALOX15B_ENST00000572022.1_Silent_p.G577G	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	589	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.G589G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CATGCGAGGGCTTCATAGCCA	0.592													C|||	600	0.119808	0.3033	0.0389	5008	,	,		19701	0.12		0.0139	False		,,,				2504	0.0378				p.G589G		Atlas-SNP	.											ALOX15B,NS,carcinoma,0,1	ALOX15B	66	1	1	Substitution - coding silent(1)	stomach(1)	c.C1767T						PASS	.	C	,,	1119,3287	401.3+/-331.9	144,831,1228	94	79	84		1680,1545,1767	-2.7	0.1	17	dbSNP_119	84	110,8490	58.7+/-120.3	0,110,4190	no	coding-synonymous,coding-synonymous,coding-synonymous	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	,,	144,941,5418	TT,TC,CC		1.2791,25.3972,9.4495	,,	560/648,515/603,589/677	7951149	1229,11777	2203	4300	6503	SO:0001819	synonymous_variant	247	exon13			CGAGGGCTTCATA	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1767C>T	17.37:g.7951149C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	135	64	0.474074	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	CCDS11128.1																																																																																			C|0.899;T|0.101	0.101	strong		0.592	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7951149	C	T	7951149	2	4	22	1	0	0	0	0	0	0	0	1	539	784	28	2		2	ALOX15B	17	7951149	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	197	7951149	73244061	8595	13703										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7951819	7951819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcatccaggagcggaaccAgggcctggtgctgccctaca	15	13	0	0	rs4792147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7951819A>G	ENST00000380183.4	+	14	2106	c.1967A>G	c.(1966-1968)cAg>cGg	p.Q656R	ALOX15B_ENST00000573359.1_Missense_Mutation_p.Q582R|ALOX15B_ENST00000572022.1_Missense_Mutation_p.Q644R|ALOX15B_ENST00000380173.2_Missense_Mutation_p.Q627R	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	656	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		Q -> R (in dbSNP:rs4792147). {ECO:0000269|PubMed:11350124, ECO:0000269|PubMed:11839751, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9177185}.		apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GAGCGGAACCAGGGCCTGGTG	0.617													G|||	3257	0.650359	0.8775	0.5778	5008	,	,		16415	0.5506		0.5119	False		,,,				2504	0.6401				p.Q656R		Atlas-SNP	.											.	ALOX15B	66	.	0			c.A1967G						PASS	.	G	ARG/GLN,ARG/GLN,ARG/GLN	3558,848	334.1+/-303.3	1444,670,89	87	90	89		1880,1745,1967	-1.7	0	17	dbSNP_111	89	4308,4292	577.2+/-390.5	1079,2150,1071	yes	missense,missense,missense	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	43,43,43	2523,2820,1160	GG,GA,AA		49.907,19.2465,39.5202	benign,benign,benign	627/648,582/603,656/677	7951819	7866,5140	2203	4300	6503	SO:0001583	missense	247	exon14			GGAACCAGGGCCT	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1967A>G	17.37:g.7951819A>G	ENSP00000369530:p.Gln656Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	1303	0.5966117216117216	413	0.8394308943089431	195	0.5386740331491713	321	0.5611888111888111	374	0.49340369393139843	G	7.178	0.589071	0.13812	0.807535	0.50093	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.76316	-1.01;-1.01	3.74	-1.69	0.08186	Lipoxygenase, C-terminal (3);	1.304660	0.04587	N	0.396096	T	0.00012	0.0000	N	0.12961	0.28	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.40961	-0.9535	9	0.25751	T	0.34	-5.7717	10.5555	0.45114	0.7064:0.0:0.2936:0.0	rs4792147;rs17855861;rs17857053;rs52802887;rs60011980;rs4792147	582;627;656	O15296-2;O15296-4;O15296	.;.;LX15B_HUMAN	R	627;582;656	ENSP00000369520:Q627R;ENSP00000369530:Q656R	ENSP00000344337:Q582R	Q	+	2	0	ALOX15B	7892544	0.000000	0.05858	0.017000	0.16124	0.445000	0.32107	0.081000	0.14823	-0.947000	0.03673	-0.974000	0.02594	CAG	A|0.391;C|0.000;G|0.609	0.609	strong		0.617	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			G	7951819	A	G	7951819	3	3	22	1	0	0	0	0	1	0	0	0	539	188	7	3	2021	3	ALOX15B	17	7951819	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	670	7951819	73243391	8596	13704										
ALOX15B	247	hgsc.bcm.edu	37	chr17	7951878	7951878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcgagaacagcgtctccAtctaaatcccaggggaacac	8	13	3	1	rs7225107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:7951878A>G	ENST00000380183.4	+	14	2165	c.2026A>G	c.(2026-2028)Atc>Gtc	p.I676V	ALOX15B_ENST00000573359.1_Missense_Mutation_p.I602V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.I664V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I647V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	676	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		I -> V (in dbSNP:rs7225107).		apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.I676V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGCGTCTCCATCTAAATCCC	0.577													A|||	537	0.107228	0.2587	0.0346	5008	,	,		17657	0.12		0.0129	False		,,,				2504	0.0378				p.I676V		Atlas-SNP	.											ALOX15B,NS,carcinoma,-2,2	ALOX15B	66	2	1	Substitution - Missense(1)	stomach(1)	c.A2026G						PASS	.	A	VAL/ILE,VAL/ILE,VAL/ILE	937,3469	358.1+/-314.2	100,737,1366	88	87	87		1939,1804,2026	3.8	1	17	dbSNP_116	87	108,8492	58.3+/-119.8	0,108,4192	yes	missense,missense,missense	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	29,29,29	100,845,5558	GG,GA,AA		1.2558,21.2665,8.0348	possibly-damaging,possibly-damaging,possibly-damaging	647/648,602/603,676/677	7951878	1045,11961	2203	4300	6503	SO:0001583	missense	247	exon14			GTCTCCATCTAAA	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.2026A>G	17.37:g.7951878A>G	ENSP00000369530:p.Ile676Val	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	72	30	0.416667	NM_001141	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	209	0.09569597069597069	113	0.22967479674796748	13	0.03591160220994475	74	0.12937062937062938	9	0.011873350923482849	A	16.88	3.244410	0.59103	0.212665	0.012558	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.94576	-3.46;-3.46	3.76	3.76	0.43208	Lipoxygenase, C-terminal (2);	0.049400	0.85682	D	0.000000	T	0.00580	0.0019	M	0.76727	2.345	0.22819	P	0.99869436	P;D;P;P	0.54397	0.942;0.966;0.808;0.709	P;P;P;B	0.51266	0.463;0.664;0.54;0.338	T	0.00000	-1.3585	9	0.51188	T	0.08	.	11.8713	0.52520	1.0:0.0:0.0:0.0	rs7225107;rs7225107	664;602;647;676	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	V	647;602;676	ENSP00000369520:I647V;ENSP00000369530:I676V	ENSP00000344337:I602V	I	+	1	0	ALOX15B	7892603	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	2.800000	0.47900	1.701000	0.51217	0.379000	0.24179	ATC	A|0.907;G|0.093	0.093	strong		0.577	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			G	7951878	A	G	7951878	3	3	22	1	0	0	0	0	1	0	0	0	539	217	8	2	2080	2	ALOX15B	17	7951878	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59	7951878	73243332	8597	13705										
C17orf68	80169	hgsc.bcm.edu	37	chr17	8135446	8135446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggggtccctctgggccGgtgggatctgtctgaggtgt	19	8	3	1	rs3027235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8135446G>A	ENST00000315684.8	-	13	2167	c.2160C>T	c.(2158-2160)acC>acT	p.T720T		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	720					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCTCTGGGCCGGTGGGATCTG	0.577													G|||	217	0.0433307	0.087	0.1009	5008	,	,		17092	0.0099		0.0139	False		,,,				2504	0.0082				p.T720T		Atlas-SNP	.											.	CTC1	75	.	0			c.C2160T						PASS	.	G		260,3684		9,242,1721	21	22	22		2160	2.3	0	17	dbSNP_102	22	124,8160		3,118,4021	no	coding-synonymous	CTC1	NM_025099.5		12,360,5742	AA,AG,GG		1.4969,6.5923,3.1403		720/1218	8135446	384,11844	1972	4142	6114	SO:0001819	synonymous_variant	80169	exon13			TGGGCCGGTGGGA	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2160C>T	17.37:g.8135446G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	92	41	0.445652	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																			G|0.964;A|0.036	0.036	strong		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8135446	G	A	8135446	2	1	22	1	0	0	0	0	0	0	0	1	1876	1103	39	1		1	C17orf68	17	8135446	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	183568	8135446	73059764	8598	13706										
C17orf68	80169	hgsc.bcm.edu	37	chr17	8141779	8141779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcactcttgttccaagtcTgccgataggtctgttagtgt	10	10	3	0	rs73244859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8141779T>C	ENST00000315684.8	-	3	373	c.366A>G	c.(364-366)gcA>gcG	p.A122A	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	122					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTTCCAAGTCTGCCGATAGGT	0.547													C|||	111	0.0221645	0.0787	0.0	5008	,	,		19305	0.003		0.001	False		,,,				2504	0.0031				p.A122A		Atlas-SNP	.											.	CTC1	75	.	0			c.A366G						PASS	.	C		248,3754		8,232,1761	125	125	125		366	1.5	0	17	dbSNP_130	125	0,8334		0,0,4167	no	coding-synonymous	CTC1	NM_025099.5		8,232,5928	CC,CT,TT		0.0,6.1969,2.0104		122/1218	8141779	248,12088	2001	4167	6168	SO:0001819	synonymous_variant	80169	exon3			CAAGTCTGCCGAT	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.366A>G	17.37:g.8141779T>C		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	201	102	0.507463	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																			T|0.984;C|0.016	0.016	strong		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		C	8141779	T	C	8141779	2	2	22	1	0	0	0	0	0	0	0	1	1876	1567	55	3		3	C17orf68	17	8141779	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6333	8141779	73053431	8599	13707										
PFAS	5198	hgsc.bcm.edu	37	chr17	8172141	8172141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcgagggatggagggcGccgtgctgcccgtgtggagt	20	9	0	0	rs73975814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8172141G>A	ENST00000314666.6	+	27	3806	c.3673G>A	c.(3673-3675)Gcc>Acc	p.A1225T	PFAS_ENST00000545834.1_Missense_Mutation_p.A801T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1225	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GATGGAGGGCGCCGTGCTGCC	0.697													G|||	46	0.0091853	0.0333	0.0	5008	,	,		14129	0.001		0.0	False		,,,				2504	0.001				p.A1225T		Atlas-SNP	.											.	PFAS	91	.	0			c.G3673A						PASS	.	G	THR/ALA	73,4329		0,73,2128	33	37	36		3673	4.4	0	17	dbSNP_130	36	0,8592		0,0,4296	no	missense	PFAS	NM_012393.2	58	0,73,6424	AA,AG,GG		0.0,1.6583,0.5618	benign	1225/1339	8172141	73,12921	2201	4296	6497	SO:0001583	missense	5198	exon27			GAGGGCGCCGTGC	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3673G>A	17.37:g.8172141G>A	ENSP00000313490:p.Ala1225Thr	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	18	10	0.555556	NM_012393	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	13.30	2.195407	0.38806	0.016583	0.0	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.29397	1.57;2.3	5.41	4.41	0.53225	Glutamine amidotransferase type 1 (1);	0.192639	0.45606	D	0.000358	T	0.08670	0.0215	N	0.10685	0.025	0.09310	N	1	B;B	0.30439	0.279;0.279	B;B	0.31390	0.129;0.129	T	0.14504	-1.0470	10	0.87932	D	0	-12.0495	10.9394	0.47264	0.0:0.0:0.6471:0.3529	.	1225;1225	A8K8N7;O15067	.;PUR4_HUMAN	T	801;1225;634	ENSP00000441706:A801T;ENSP00000313490:A1225T	ENSP00000313490:A1225T	A	+	1	0	PFAS	8112866	0.998000	0.40836	0.033000	0.17914	0.848000	0.48234	3.977000	0.56874	1.220000	0.43490	0.563000	0.77884	GCC	G|0.994;A|0.006	0.006	strong		0.697	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			A	8172141	G	A	8172141	3	1	22	1	0	0	0	0	1	0	0	0	11754	1087	38	1	3775	1	PFAS	17	8172141	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30362	8172141	73023069	8600	13708										
ARHGEF15	22899	hgsc.bcm.edu	37	chr17	8215534	8215534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccaaccccaatgtgcacCcccatcttctgggagccccc	7	20	2	0	rs3744651	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8215534C>T	ENST00000361926.3	+	2	287	c.177C>T	c.(175-177)acC>acT	p.T59T	ARHGEF15_ENST00000421050.1_Silent_p.T59T	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	59	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAATGTGCACCCCCATCTTCT	0.617													C|||	2088	0.416933	0.4062	0.4424	5008	,	,		11137	0.6468		0.3211	False		,,,				2504	0.2751				p.T59T		Atlas-SNP	.											.	ARHGEF15	97	.	0			c.C177T						PASS	.	C	,	1667,2739	508.6+/-367.0	313,1041,849	93	95	94		177,177	2.1	1	17	dbSNP_107	94	2855,5745	447.6+/-361.6	465,1925,1910	no	coding-synonymous,coding-synonymous	ARHGEF15	NM_025014.1,NM_173728.3	,	778,2966,2759	TT,TC,CC		33.1977,37.8348,34.7686	,	59/842,59/842	8215534	4522,8484	2203	4300	6503	SO:0001819	synonymous_variant	22899	exon2			GTGCACCCCCATC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.177C>T	17.37:g.8215534C>T		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	341	181	0.530792	NM_025014	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	CCDS11139.1	977	0.44734432234432236	210	0.4268292682926829	153	0.42265193370165743	369	0.6451048951048951	245	0.3232189973614776	c	7.455	0.643538	0.14451	0.378348	0.331977	ENSG00000198844	ENST00000455564	.	.	.	5.14	2.11	0.27256	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999378766	.	.	.	.	.	.	T	0.41431	-0.9509	4	0.66056	D	0.02	-14.1856	5.1653	0.15082	0.0:0.6475:0.1706:0.182	rs3744651;rs61574661;rs3744651	.	.	.	L	21	.	ENSP00000413324:P21L	P	+	2	0	ARHGEF15	8156259	0.001000	0.12720	0.998000	0.56505	0.894000	0.52154	-0.282000	0.08445	0.358000	0.24211	-0.126000	0.14955	CCC	C|0.620;T|0.380	0.380	strong		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		T	8215534	C	T	8215534	2	4	22	1	0	0	0	0	0	0	0	1	898	610	22	2		2	ARHGEF15	17	8215534	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43393	8215534	72979676	8601	13709										
ARHGEF15	22899	hgsc.bcm.edu	37	chr17	8216468	8216468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcgcaaactcctgccacTcctcaagcctcccaaaccaa	5	18	1	1	rs871841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8216468T>C	ENST00000361926.3	+	3	940	c.830T>C	c.(829-831)cTc>cCc	p.L277P	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.L277P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	277			L -> P (in dbSNP:rs871841). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCTGCCACTCCTCAAGCCT	0.597													C|||	3110	0.621006	0.7186	0.6758	5008	,	,		16306	0.7431		0.4761	False		,,,				2504	0.4734				p.L277P		Atlas-SNP	.											.	ARHGEF15	97	.	0			c.T830C						PASS	.	C	PRO/LEU,PRO/LEU	3027,1379	454.9+/-350.8	1050,927,226	68	61	63		830,830	5.1	1	17	dbSNP_86	63	4301,4299	576.5+/-390.4	1084,2133,1083	yes	missense,missense	ARHGEF15	NM_025014.1,NM_173728.3	98,98	2134,3060,1309	CC,CT,TT		49.9884,31.2982,43.6568	benign,benign	277/842,277/842	8216468	7328,5678	2203	4300	6503	SO:0001583	missense	22899	exon3			TGCCACTCCTCAA	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.830T>C	17.37:g.8216468T>C	ENSP00000355026:p.Leu277Pro	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	75	43	0.573333	NM_025014	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	1362	0.6236263736263736	357	0.725609756097561	226	0.6243093922651933	424	0.7412587412587412	355	0.4683377308707124	C	7.148	0.583117	0.13749	0.687018	0.500116	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.34472	1.36;1.36	5.13	5.13	0.70059	.	0.074351	0.52532	N	0.000070	T	0.00012	0.0000	N	0.01352	-0.895	0.33021	P	0.47108799999999995	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.02654	T	1	-19.8928	9.6731	0.40023	0.0:0.9064:0.0:0.0936	rs871841;rs3815647;rs17806556;rs17846188;rs17859203;rs52789349;rs56785551;rs871841	277	O94989	ARHGF_HUMAN	P	277	ENSP00000355026:L277P;ENSP00000412505:L277P	ENSP00000355026:L277P	L	+	2	0	ARHGEF15	8157193	0.382000	0.25148	0.995000	0.50966	0.130000	0.20726	1.477000	0.35431	1.409000	0.46915	-0.215000	0.12644	CTC	T|0.398;G|0.003	.	strong		0.597	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		C	8216468	T	C	8216468	3	2	22	1	0	0	0	0	1	0	0	0	898	1551	54	3	836	3	ARHGEF15	17	8216468	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	934	8216468	72978742	8602	13710										
KRBA2	124751	hgsc.bcm.edu	37	chr17	8273246	8273246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacagagtcagatataagaCaataacttctttggtgacat	7	7	2	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8273246C>T	ENST00000331336.2	-	2	690	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.V147I	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	229					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGATATAAGACAATAACTTCT	0.453																																					p.V229I		Atlas-SNP	.											.	KRBA2	34	.	0			c.G685A						PASS	.						126	121	123					17																	8273246		2203	4300	6503	SO:0001583	missense	124751	exon2			ATAAGACAATAAC	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.685G>A	17.37:g.8273246C>T	ENSP00000328017:p.Val229Ile	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	225	61	0.271111	NM_213597	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926066	0.34002	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.23348	1.93;1.91	2.64	2.64	0.31445	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.22982	N	0.998471	B	0.23490	0.086	B	0.22601	0.04	T	0.15350	-1.0440	9	0.48119	T	0.1	.	8.9489	0.35776	0.0:1.0:0.0:0.0	.	229	Q6ZNG9	KRBA2_HUMAN	I	147;229	ENSP00000379565:V147I;ENSP00000328017:V229I	ENSP00000328017:V229I	V	-	1	0	KRBA2	8213971	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.587000	0.36622	1.804000	0.52760	0.650000	0.86243	GTC	.	.	none		0.453	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		T	8273246	C	T	8273246	3	4	22	1	0	0	0	0	1	0	0	0	8440	478	17	2	797	2	KRBA2	17	8273246	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56778	8273246	72921964	8603	13711										
KRBA2	124751	hgsc.bcm.edu	37	chr17	8273654	8273654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttgcatttgaaaccccagGtggatcatttccagctctct	7	12	2	1	rs74532943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8273654G>A	ENST00000331336.2	-	2	282	c.277C>T	c.(277-279)Cct>Tct	p.P93S	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.P11S	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	93	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GAAACCCCAGGTGGATCATTT	0.383													G|||	198	0.0395367	0.1407	0.013	5008	,	,		19763	0.0		0.001	False		,,,				2504	0.002				p.P93S		Atlas-SNP	.											.	KRBA2	34	.	0			c.C277T						PASS	.	G	SER/PRO	443,3963	192.6+/-218.0	21,401,1781	89	92	91		277	-2.6	0	17	dbSNP_131	91	7,8589	5.0+/-18.6	0,7,4291	yes	missense	KRBA2	NM_213597.2	74	21,408,6072	AA,AG,GG		0.0814,10.0545,3.461	benign	93/493	8273654	450,12552	2203	4298	6501	SO:0001583	missense	124751	exon2			CCCCAGGTGGATC	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.277C>T	17.37:g.8273654G>A	ENSP00000328017:p.Pro93Ser	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	122	65	0.532787	NM_213597	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	81	0.03708791208791209	75	0.1524390243902439	6	0.016574585635359115	0	0.0	0	0.0	G	0.116	-1.132002	0.01756	0.100545	8.14E-4	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.23754	1.98;1.89	2.42	-2.57	0.06248	Krueppel-associated box (1);	.	.	.	.	T	0.00073	0.0002	L	0.31476	0.935	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.35425	-0.9789	8	0.22109	T	0.4	.	2.9115	0.05738	0.5175:0.0:0.2709:0.2117	.	93	Q6ZNG9	KRBA2_HUMAN	S	11;93	ENSP00000379565:P11S;ENSP00000328017:P93S	ENSP00000328017:P93S	P	-	1	0	KRBA2	8214379	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.059000	0.03479	-0.614000	0.05687	0.555000	0.69702	CCT	G|0.969;A|0.031	0.031	strong		0.383	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		A	8273654	G	A	8273654	3	1	22	1	0	0	0	0	1	0	0	0	8440	1261	44	2	1205	2	KRBA2	17	8273654	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	408	8273654	72921556	8604	13712										
CCDC42	146849	hgsc.bcm.edu	37	chr17	8647015	8647015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgcccagttcctcccagcGcaggttcagggtttccattc	9	15	1	0	rs9893451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8647015G>A	ENST00000293845.3	-	3	449	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CCDC42_ENST00000539522.2_Missense_Mutation_p.R75C	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	75			R -> C (in dbSNP:rs9893451).							kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTCCCAGCGCAGGTTCAGG	0.582													G|||	359	0.0716853	0.2095	0.0274	5008	,	,		18849	0.002		0.0219	False		,,,				2504	0.0399				p.R75C		Atlas-SNP	.											CCDC42,caecum,carcinoma,+1,1	CCDC42	31	1	0			c.C223T						PASS	.	G	CYS/ARG,CYS/ARG	787,3619	319.9+/-296.3	75,637,1491	83	71	75		223,223	4.4	1	17	dbSNP_119	75	201,8399	87.4+/-149.7	2,197,4101	yes	missense,missense	CCDC42	NM_001158261.1,NM_144681.2	180,180	77,834,5592	AA,AG,GG		2.3372,17.862,7.5965	probably-damaging,probably-damaging	75/243,75/317	8647015	988,12018	2203	4300	6503	SO:0001583	missense	146849	exon3			CCCAGCGCAGGTT	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.223C>T	17.37:g.8647015G>A	ENSP00000293845:p.Arg75Cys	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_144681	Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	109	0.04990842490842491	84	0.17073170731707318	9	0.024861878453038673	1	0.0017482517482517483	15	0.01978891820580475	G	20.5	3.996611	0.74818	0.17862	0.023372	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24538	1.85;1.85	4.38	4.38	0.52667	.	0.000000	0.53938	D	0.000050	T	0.00144	0.0004	M	0.73598	2.24	0.20074	P	0.9999320848	D	0.89917	1.0	D	0.85130	0.997	T	0.01252	-1.1405	9	0.87932	D	0	-14.7306	15.8885	0.79273	0.0:0.0:1.0:0.0	rs9893451;rs9893451	75	Q96M95	CCD42_HUMAN	C	75	ENSP00000293845:R75C;ENSP00000444359:R75C	ENSP00000293845:R75C	R	-	1	0	CCDC42	8587740	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	3.450000	0.52957	2.255000	0.74692	0.650000	0.86243	CGC	G|0.924;A|0.076	0.076	strong		0.582	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		A	8647015	G	A	8647015	3	1	22	1	0	0	0	0	1	0	0	0	2814	1087	38	1	747	1	CCDC42	17	8647015	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	373361	8647015	72548195	8605	13713										
SPDYE4	388333	hgsc.bcm.edu	37	chr17	8661641	8661641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacctcgggggaccgtacCgttgtgctaggctgggggct	16	12	0	0	rs72848106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8661641C>T	ENST00000328794.6	-	1	236	c.60G>A	c.(58-60)acG>acA	p.T20T		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	20										breast(1)|endometrium(2)|kidney(1)	4						GGGACCGTACCGTTGTGCTAG	0.572													C|||	197	0.0393371	0.1203	0.0144	5008	,	,		17944	0.0		0.0219	False		,,,				2504	0.0061				p.T20T		Atlas-SNP	.											SPDYE4,NS,carcinoma,-1,2	SPDYE4	22	2	0			c.G60A						PASS	.	C		105,1279		5,95,592	31	33	32		60	-4.7	0	17	dbSNP_130	32	78,3104		0,78,1513	no	coding-synonymous	SPDYE4	NM_001128076.1		5,173,2105	TT,TC,CC		2.4513,7.5867,4.0079		20/238	8661641	183,4383	692	1591	2283	SO:0001819	synonymous_variant	388333	exon1			CCGTACCGTTGTG	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.60G>A	17.37:g.8661641C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_001128076	B2RUZ6	Silent	SNP	ENST00000328794.6	37	CCDS45609.1																																																																																			C|0.967;T|0.033	0.033	strong		0.572	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8661641	C	T	8661641	2	4	22	1	0	0	0	0	0	0	0	1	15030	639	23	1		1	SPDYE4	17	8661641	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14626	8661641	72533569	8606	13714										
MFSD6L	162387	hgsc.bcm.edu	37	chr17	8701701	8701701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggaccccaaggagaggatAaaagtccgccgcaacgcctc	11	14	0	1	rs16957601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8701701A>G	ENST00000329805.4	-	1	966	c.738T>C	c.(736-738)ttT>ttC	p.F246F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	246						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGGAGAGGATAAAAGTCCGCC	0.582													G|||	141	0.028155	0.1021	0.0072	5008	,	,		17572	0.0		0.001	False		,,,				2504	0.0				p.F246F		Atlas-SNP	.											.	MFSD6L	46	.	0			c.T738C						PASS	.	G		349,4057	788.5+/-414.9	14,321,1868	56	63	60		738	2.8	1	17	dbSNP_123	60	2,8598	812.0+/-407.1	0,2,4298	no	coding-synonymous	MFSD6L	NM_152599.3		14,323,6166	GG,GA,AA		0.0233,7.921,2.6988		246/587	8701701	351,12655	2203	4300	6503	SO:0001819	synonymous_variant	162387	exon1			GAGGATAAAAGTC	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.738T>C	17.37:g.8701701A>G		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	12	9	0.75	NM_152599	Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	CCDS11146.1																																																																																			A|0.974;G|0.026	0.026	strong		0.582	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		G	8701701	A	G	8701701	2	3	22	1	0	0	0	0	0	0	0	1	9536	359	13	2		2	MFSD6L	17	8701701	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40060	8701701	72493509	8607	13715										
PIK3R5	23533	hgsc.bcm.edu	37	chr17	8790473	8790473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattgcgctcataccagggGtccagcatgccgaggtagtg	13	11	1	0	rs61761067	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:8790473G>A	ENST00000447110.1	-	12	1969	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	PIK3R5_ENST00000581552.1_Silent_p.D615D|PIK3R5_ENST00000584803.1_Silent_p.D615D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	615					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CATACCAGGGGTCCAGCATGC	0.607													G|||	159	0.0317492	0.1135	0.0101	5008	,	,		20471	0.0		0.002	False		,,,				2504	0.0				p.D615D	NSCLC(18;589 615 7696 20311 50332)	Atlas-SNP	.											.	PIK3R5	79	.	0			c.C1845T						PASS	.	G	,	436,3970	211.2+/-231.4	16,404,1783	155	111	126		1845,1845	2.8	1	17	dbSNP_129	126	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	16,411,6076	AA,AG,GG		0.0814,9.8956,3.4061	,	615/881,615/881	8790473	443,12563	2203	4300	6503	SO:0001819	synonymous_variant	23533	exon12			CCAGGGGTCCAGC	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1845C>T	17.37:g.8790473G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	201	109	0.542289	NM_001142633	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																			G|0.969;A|0.031	0.031	strong		0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8790473	G	A	8790473	2	1	22	1	0	0	0	0	0	0	0	1	11922	1252	44	2		2	PIK3R5	17	8790473	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	88772	8790473	72404737	8608	13716										
MYH13	8735	hgsc.bcm.edu	37	chr17	10223697	10223697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcttctatttgctgcttGtcattttctagatccataat	4	9	4	1	rs2074876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10223697G>T	ENST00000418404.3	-	24	3391	c.3228C>A	c.(3226-3228)gaC>gaA	p.D1076E	MYH13_ENST00000252172.4_Missense_Mutation_p.D1076E|RP11-401O9.3_ENST00000577743.1_RNA|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1076			D -> E (in dbSNP:rs2074876). {ECO:0000269|PubMed:10388558}.		cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGCTGCTTGTCATTTTCTA	0.443													G|||	1214	0.242412	0.1694	0.1614	5008	,	,		14696	0.4067		0.1044	False		,,,				2504	0.3712				p.D1076E		Atlas-SNP	.											MYH13_ENST00000252172,colon,carcinoma,-1,2	MYH13	533	2	0			c.C3228A						PASS	.	G	GLU/ASP	524,3194		40,444,1375	77	75	75		3228	3.7	1	17	dbSNP_96	75	821,7363		39,743,3310	yes	missense	MYH13	NM_003802.2	45	79,1187,4685	TT,TG,GG		10.0318,14.0936,11.3006	benign	1076/1939	10223697	1345,10557	1859	4092	5951	SO:0001583	missense	8735	exon25			CTGCTTGTCATTT	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3228C>A	17.37:g.10223697G>T	ENSP00000404570:p.Asp1076Glu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	460	0.21062271062271062	85	0.17276422764227642	50	0.13812154696132597	246	0.43006993006993005	79	0.10422163588390501	G	14.79	2.640617	0.47153	0.140936	0.100318	ENSG00000006788	ENST00000252172	T	0.80566	-1.39	3.68	3.68	0.42216	Myosin tail (1);	.	.	.	.	T	0.00012	0.0000	L	0.61218	1.895	0.32109	P	0.589576	B	0.06786	0.001	B	0.26864	0.074	T	0.25984	-1.0116	8	0.49607	T	0.09	.	10.2665	0.43457	0.1097:0.0:0.8903:0.0	rs2074876;rs61443677;rs2074876	1076	Q9UKX3	MYH13_HUMAN	E	1076	ENSP00000252172:D1076E	ENSP00000252172:D1076E	D	-	3	2	MYH13	10164422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.879000	0.28146	2.044000	0.60594	0.655000	0.94253	GAC	G|0.786;T|0.214	0.214	strong		0.443	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10223697	G	T	10223697	3	4	22	1	0	0	0	0	1	0	0	0	10032	1368	48	4	2656	4	MYH13	17	10223697	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1433224	10223697	70971513	8609	13717										
MYH8	4626	hgsc.bcm.edu	37	chr17	10297658	10297658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctgttccagagtggcccAcagctcctcgatctcagcct	9	15	2	1	rs8069834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10297658A>G	ENST00000403437.2	-	35	5168	c.5074T>C	c.(5074-5076)Tgg>Cgg	p.W1692R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1692			W -> R (in dbSNP:rs8069834).		ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAGTGGCCCACAGCTCCTCG	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	2431	0.485423	0.7595	0.4856	5008	,	,		16128	0.124		0.6322	False		,,,				2504	0.3364				p.W1692R		Atlas-SNP	.											.	MYH8	346	.	0			c.T5074C						PASS	.	G	ARG/TRP	3176,1230	425.7+/-340.9	1139,898,166	108	99	102		5074	1.8	1	17	dbSNP_116	102	5013,3585	519.7+/-379.5	1473,2067,759	no	missense	MYH8	NM_002472.2	101	2612,2965,925	GG,GA,AA		41.6957,27.9165,37.0271	benign	1692/1938	10297658	8189,4815	2203	4299	6502	SO:0001583	missense	4626	exon35	Familial Cancer Database	Carney Complex Variant	TGGCCCACAGCTC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5074T>C	17.37:g.10297658A>G	ENSP00000384330:p.Trp1692Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	129	60	0.465116	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	1082	0.49542124542124544	369	0.75	176	0.4861878453038674	66	0.11538461538461539	471	0.6213720316622692	G	1.894	-0.454810	0.04540	0.720835	0.583043	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.74209	-0.82	5.06	1.84	0.25277	Myosin tail (1);	0.000000	0.37623	N	0.002002	T	0.00012	0.0000	N	0.00001	-3.88	0.51767	P	6.499999999998174E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.49597	-0.8923	9	0.02654	T	1	.	8.832	0.35089	0.068:0.0:0.4266:0.5054	rs8069834;rs8069834	1692	P13535	MYH8_HUMAN	R	1692	ENSP00000384330:W1692R	ENSP00000252173:W1692R	W	-	1	0	MYH8	10238383	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	0.948000	0.29096	0.017000	0.15025	-0.128000	0.14901	TGG	A|0.408;G|0.592	0.592	strong		0.607	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		G	10297658	A	G	10297658	3	3	22	1	0	0	0	0	1	0	0	0	10041	159	6	2	763	2	MYH8	17	10297658	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	73961	10297658	70897552	8610	13718										
MYH8	4626	hgsc.bcm.edu	37	chr17	10312792	10312792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgaccaccttgggcttCtggaagttggcagacttgcc	11	12	1	2	rs73275411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10312792C>T	ENST00000403437.2	-	16	1795	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	567	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGGCTTCTGGAAGTTGG	0.517									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	88	0.0175719	0.0666	0.0	5008	,	,		18938	0.0		0.0	False		,,,				2504	0.0				p.Q567Q		Atlas-SNP	.											.	MYH8	346	.	0			c.G1701A						PASS	.	C		288,4118	158.5+/-191.2	12,264,1927	119	118	118		1701	3.3	1	17	dbSNP_131	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH8	NM_002472.2		12,265,6226	TT,TC,CC		0.0116,6.5365,2.2221		567/1938	10312792	289,12717	2203	4300	6503	SO:0001819	synonymous_variant	4626	exon16	Familial Cancer Database	Carney Complex Variant	GGGCTTCTGGAAG		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1701G>A	17.37:g.10312792C>T		Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	251	134	0.533865	NM_002472	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																			C|0.976;T|0.024	0.024	strong		0.517	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10312792	C	T	10312792	2	4	22	1	0	0	0	0	0	0	0	1	10041	912	32	2		2	MYH8	17	10312792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15134	10312792	70882418	8611	13719										
MYH4	4622	hgsc.bcm.edu	37	chr17	10354747	10354747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagctggtcctctagggtgCggcacattttctcaaagttt	10	9	2	0	rs200121484		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10354747C>T	ENST00000255381.2	-	28	3871	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1254					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1254H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTAGGGTGCGGCACATTTT	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11762	0.0		0.0	False		,,,				2504	0.0				p.R1254H		Atlas-SNP	.											MYH4,caecum,carcinoma,0,1	MYH4	349	1	1	Substitution - Missense(1)	large_intestine(1)	c.G3761A						PASS	.	C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	159	139	146		3761	3.6	1	17		146	0,8600		0,0,4300	yes	missense	MYH4	NM_017533.2	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	1254/1940	10354747	5,13001	2203	4300	6503	SO:0001583	missense	4622	exon28			AGGGTGCGGCACA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3761G>A	17.37:g.10354747C>T	ENSP00000255381:p.Arg1254His	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	202	99	0.490099	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511257	0.64522	0.001135	0.0	ENSG00000141048	ENST00000255381	T	0.78924	-1.22	5.62	3.64	0.41730	Myosin tail (1);	0.000000	0.37219	U	0.002181	T	0.76300	0.3968	M	0.65975	2.015	0.44359	D	0.997257	B	0.18863	0.031	B	0.26770	0.073	T	0.73688	-0.3904	10	0.59425	D	0.04	.	12.8771	0.57996	0.0:0.8666:0.0:0.1334	.	1254	Q9Y623	MYH4_HUMAN	H	1254	ENSP00000255381:R1254H	ENSP00000255381:R1254H	R	-	2	0	MYH4	10295472	0.952000	0.32445	0.963000	0.40424	0.878000	0.50629	2.224000	0.42945	0.845000	0.35118	0.655000	0.94253	CGC	.	.	weak		0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10354747	C	T	10354747	3	4	22	1	0	0	0	0	1	0	0	0	10037	768	27	1	2110	1	MYH4	17	10354747	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41955	10354747	70840463	8612	13720										
MYH1	4619	hgsc.bcm.edu	37	chr17	10404766	10404766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgcttctctgctttggcCcgggaggcccgctctgcctc	12	17	2	0	rs61730793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10404766C>T	ENST00000226207.5	-	27	3493	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1133					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCTTTGGCCCGGGAGGCCC	0.572													C|||	31	0.0061901	0.0227	0.0014	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.0				p.R1133R		Atlas-SNP	.											.	MYH1	403	.	0			c.G3399A						PASS	.	C		90,4316		1,88,2114	40	45	44		3399	3.3	1	17	dbSNP_129	44	0,8588		0,0,4294	no	coding-synonymous	MYH1	NM_005963.3		1,88,6408	TT,TC,CC		0.0,2.0427,0.6926		1133/1940	10404766	90,12904	2203	4294	6497	SO:0001819	synonymous_variant	4619	exon27			TTTGGCCCGGGAG		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3399G>A	17.37:g.10404766C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	160	86	0.5375	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			C|0.994;T|0.006	0.006	strong		0.572	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10404766	C	T	10404766	2	4	22	1	0	0	0	0	0	0	0	1	10029	610	22	2		2	MYH1	17	10404766	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50019	10404766	70790444	8613	13721										
SCO1	6341	hgsc.bcm.edu	37	chr17	10595250	10595250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtcaatgctgatgaaaagTggagttagatctggcagagt	15	4	2	4	rs2271228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10595250T>C	ENST00000255390.5	-	4	654	c.594A>G	c.(592-594)ccA>ccG	p.P198P	SCO1_ENST00000577427.1_Silent_p.P167P|SCO1_ENST00000582053.1_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	198					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TGATGAAAAGTGGAGTTAGAT	0.358													T|||	249	0.0497204	0.1679	0.0072	5008	,	,		21532	0.0169		0.003	False		,,,				2504	0.002				p.P198P	Melanoma(128;591 1731 19711 31891 44645)	Atlas-SNP	.											SCO1,NS,carcinoma,-1,1	SCO1	24	1	0			c.A594G						scavenged	.	T		567,3839	253.4+/-259.3	36,495,1672	112	109	110		594	-2.1	1	17	dbSNP_100	110	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SCO1	NM_004589.2		36,500,5967	CC,CT,TT		0.0581,12.8688,4.398		198/302	10595250	572,12434	2203	4300	6503	SO:0001819	synonymous_variant	6341	exon4			GAAAAGTGGAGTT	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.594A>G	17.37:g.10595250T>C		Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	143	59	0.412587	NM_004589	B2RDM0	Silent	SNP	ENST00000255390.5	37	CCDS11158.1																																																																																			T|0.961;C|0.039	0.039	strong		0.358	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		C	10595250	T	C	10595250	2	2	22	1	0	0	0	0	0	0	0	1	13931	1683	59	2		2	SCO1	17	10595250	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	190484	10595250	70599960	8614	13722										
SCO1	6341	hgsc.bcm.edu	37	chr17	10600653	10600653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttcccaggcaatagccagGgcgccccgaggcacgccacg	14	16	0	0	rs1802083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:10600653G>A	ENST00000255390.5	-	1	232	c.172C>T	c.(172-174)Cct>Tct	p.P58S	SCO1_ENST00000582053.1_Intron|ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.P58S	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	58			P -> S (in dbSNP:rs1802083).		cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CAATAGCCAGGGCGCCCCGAG	0.726													G|||	309	0.0617013	0.2216	0.0159	5008	,	,		10465	0.0		0.005	False		,,,				2504	0.0				p.P58S	Melanoma(128;591 1731 19711 31891 44645)	Atlas-SNP	.											.	SCO1	24	.	0			c.C172T						PASS	.	G	SER/PRO	629,3663		35,559,1552	6	7	7		172	1.7	0	17	dbSNP_89	7	11,8423		0,11,4206	no	missense	SCO1	NM_004589.2	74	35,570,5758	AA,AG,GG		0.1304,14.6552,5.0291	benign	58/302	10600653	640,12086	2146	4217	6363	SO:0001583	missense	6341	exon1			AGCCAGGGCGCCC	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.172C>T	17.37:g.10600653G>A	ENSP00000255390:p.Pro58Ser	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	43	21	0.488372	NM_004589	B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	CCDS11158.1	110	0.05036630036630037	99	0.20121951219512196	9	0.024861878453038673	0	0.0	2	0.002638522427440633	G	10.34	1.324239	0.24080	0.146552	0.001304	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.84873	-1.91	3.87	1.72	0.24424	.	0.533478	0.16696	N	0.203334	T	0.00178	0.0005	N	0.14661	0.345	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.03184	-1.1063	9	0.12430	T	0.62	-1.1139	10.6528	0.45657	0.0:0.4881:0.5119:0.0	rs1802083	58;58	A8MY34;O75880	.;SCO1_HUMAN	S	58	ENSP00000255390:P58S	ENSP00000255390:P58S	P	-	1	0	SCO1	10541378	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.044000	0.03532	0.504000	0.28082	-0.171000	0.13296	CCT	G|0.948;A|0.052	0.052	strong		0.726	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		A	10600653	G	A	10600653	3	1	22	1	0	0	0	0	1	0	0	0	13931	1232	43	2	757	2	SCO1	17	10600653	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5403	10600653	70594557	8615	13723										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11532787	11532787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggaaaggtggagttcagCggcgtcagagggaatgctct	17	7	3	1	rs73290804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11532787C>T	ENST00000262442.4	+	7	1472	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	DNAH9_ENST00000454412.2_Silent_p.S468S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	468	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGTTCAGCGGCGTCAGAG	0.478													C|||	100	0.0199681	0.0726	0.0043	5008	,	,		15848	0.001		0.0	False		,,,				2504	0.0				p.S468S		Atlas-SNP	.											.	DNAH9	695	.	0			c.C1404T						PASS	.	C		272,4134	155.2+/-188.4	10,252,1941	100	98	99		1404	-0.7	1	17	dbSNP_130	99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DNAH9	NM_001372.3		10,254,6239	TT,TC,CC		0.0233,6.1734,2.1067		468/4487	11532787	274,12732	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon7			GTTCAGCGGCGTC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1404C>T	17.37:g.11532787C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	159	78	0.490566	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.978;T|0.022	0.022	strong		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11532787	C	T	11532787	2	4	22	1	0	0	0	0	0	0	0	1	4608	767	27	1		1	DNAH9	17	11532787	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	932134	11532787	69662423	8616	13724										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11532835	11532835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtccagcaaatgcatgaAgaatttcaagagatgtacag	10	7	1	3	rs9895535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11532835A>G	ENST00000262442.4	+	7	1520	c.1452A>G	c.(1450-1452)gaA>gaG	p.E484E	DNAH9_ENST00000454412.2_Silent_p.E484E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	484	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATGCATGAAGAATTTCAAG	0.542													G|||	1967	0.392772	0.7761	0.2334	5008	,	,		15250	0.131		0.3161	False		,,,				2504	0.3364				p.E484E		Atlas-SNP	.											.	DNAH9	695	.	0			c.A1452G						PASS	.	G		3135,1271	433.5+/-343.6	1137,861,205	117	110	112		1452	-6	0	17	dbSNP_119	112	2607,5993	688.5+/-404.3	405,1797,2098	no	coding-synonymous	DNAH9	NM_001372.3		1542,2658,2303	GG,GA,AA		30.314,28.847,44.1489		484/4487	11532835	5742,7264	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon7			GCATGAAGAATTT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1452A>G	17.37:g.11532835A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			A|0.589;G|0.411	0.411	strong		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11532835	A	G	11532835	2	3	22	1	0	0	0	0	0	0	0	1	4608	69	3	3		3	DNAH9	17	11532835	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	48	11532835	69662375	8617	13725										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11540079	11540079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatgatctacagtcagcaCgtccaggaggaagcagaact	12	9	2	2	rs8065057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11540079C>T	ENST00000262442.4	+	9	1832	c.1764C>T	c.(1762-1764)caC>caT	p.H588H	DNAH9_ENST00000454412.2_Silent_p.H588H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	588	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGTCAGCACGTCCAGGAGG	0.438													T|||	54	0.0107827	0.0393	0.0029	5008	,	,		22057	0.0		0.0	False		,,,				2504	0.0				p.H588H		Atlas-SNP	.											.	DNAH9	695	.	0			c.C1764T						PASS	.	T		210,4196	807.3+/-415.9	3,204,1996	145	138	140		1764	-0.4	0.6	17	dbSNP_116	140	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous	DNAH9	NM_001372.3		3,206,6294	TT,TC,CC		0.0233,4.7662,1.63		588/4487	11540079	212,12794	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon9			TCAGCACGTCCAG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1764C>T	17.37:g.11540079C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	93	36	0.387097	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.984;T|0.016	0.016	strong		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11540079	C	T	11540079	2	4	22	1	0	0	0	0	0	0	0	1	4608	535	19	1		1	DNAH9	17	11540079	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7244	11540079	69655131	8618	13726										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11550413	11550413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacaagactttatgaggaTtggtgccggacagtatcaga	13	6	1	4	rs61745426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11550413T>C	ENST00000262442.4	+	12	2063	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D	DNAH9_ENST00000454412.2_Silent_p.D665D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	665	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTATGAGGATTGGTGCCGGA	0.488													T|||	59	0.0117812	0.0431	0.0029	5008	,	,		16804	0.0		0.0	False		,,,				2504	0.0				p.D665D		Atlas-SNP	.											.	DNAH9	695	.	0			c.T1995C						PASS	.	T		162,4244	110.8+/-149.0	6,150,2047	151	128	136		1995	-0.4	1	17	dbSNP_129	136	1,8599		0,1,4299	no	coding-synonymous	DNAH9	NM_001372.3		6,151,6346	CC,CT,TT		0.0116,3.6768,1.2533		665/4487	11550413	163,12843	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon12			TGAGGATTGGTGC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1995T>C	17.37:g.11550413T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	131	59	0.450382	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			T|0.988;C|0.012	0.012	strong		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11550413	T	C	11550413	2	2	22	1	0	0	0	0	0	0	0	1	4608	1490	52	2		2	DNAH9	17	11550413	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10334	11550413	69644797	8619	13727										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11583192	11583192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttatggctgttaaagaaCggcagagtaacactgatgag	11	7	0	4	rs8070501	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11583192C>T	ENST00000262442.4	+	18	3540	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1158W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1158	Stem. {ECO:0000250}.		R -> W (in dbSNP:rs8070501).		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTTAAAGAACGGCAGAGTAA	0.408													C|||	57	0.0113818	0.0408	0.0029	5008	,	,		18781	0.001		0.0	False		,,,				2504	0.0				p.R1158W		Atlas-SNP	.											DNAH9,rectum,carcinoma,0,1	DNAH9	695	1	0			c.C3472T						PASS	.	C	TRP/ARG	164,4242	111.6+/-149.8	6,152,2045	136	129	132		3472	2.5	0.9	17	dbSNP_116	132	2,8598	1.2+/-3.3	0,2,4298	yes	missense	DNAH9	NM_001372.3	101	6,154,6343	TT,TC,CC		0.0233,3.7222,1.2763	probably-damaging	1158/4487	11583192	166,12840	2203	4300	6503	SO:0001583	missense	1770	exon18			AAAGAACGGCAGA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3472C>T	17.37:g.11583192C>T	ENSP00000262442:p.Arg1158Trp	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	99	50	0.50505	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	C	14.02	2.409862	0.42715	0.037222	2.33E-4	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25414	1.8;1.8	5.69	2.5	0.30297	.	0.257159	0.32343	N	0.006221	T	0.25717	0.0626	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60865	-0.7178	10	0.87932	D	0	.	16.2874	0.82727	0.6259:0.3741:0.0:0.0	rs8070501;rs52812603;rs56633662;rs8070501	1158	Q9NYC9	DYH9_HUMAN	W	1158	ENSP00000262442:R1158W;ENSP00000414874:R1158W	ENSP00000262442:R1158W	R	+	1	2	DNAH9	11523917	0.585000	0.26774	0.926000	0.36857	0.245000	0.25701	0.963000	0.29293	0.294000	0.22547	0.650000	0.86243	CGG	C|0.988;T|0.012	0.012	strong		0.408	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11583192	C	T	11583192	3	4	22	1	0	0	0	0	1	0	0	0	4608	527	19	1	3542	1	DNAH9	17	11583192	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32779	11583192	69612018	8620	13728										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11583245	11583245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaagcagactattgaattGctgaagacctatgaacaaga	8	6	0	6	rs8070788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11583245G>A	ENST00000262442.4	+	18	3593	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	DNAH9_ENST00000454412.2_Silent_p.L1175L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1175	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTATTGAATTGCTGAAGACCT	0.398													G|||	56	0.0111821	0.0408	0.0029	5008	,	,		19789	0.0		0.0	False		,,,				2504	0.0				p.L1175L		Atlas-SNP	.											.	DNAH9	695	.	0			c.G3525A						PASS	.	G		163,4243	111.2+/-149.4	6,151,2046	115	110	112		3525	4.6	1	17	dbSNP_116	112	1,8599		0,1,4299	no	coding-synonymous	DNAH9	NM_001372.3		6,152,6345	AA,AG,GG		0.0116,3.6995,1.261		1175/4487	11583245	164,12842	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon18			TGAATTGCTGAAG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3525G>A	17.37:g.11583245G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	80	37	0.4625	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			G|0.988;A|0.012	0.012	strong		0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11583245	G	A	11583245	2	1	22	1	0	0	0	0	0	0	0	1	4608	1310	46	2		2	DNAH9	17	11583245	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53	11583245	69611965	8621	13729										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11592928	11592928	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctggatgccaggcacatCgagatccagcagatggaatc	12	10	0	2	rs35922062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11592928C>T	ENST00000262442.4	+	20	3857	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I	DNAH9_ENST00000454412.2_Silent_p.I1263I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1263	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCACATCGAGATCCAGC	0.493													c|||	58	0.0115815	0.0424	0.0029	5008	,	,		19643	0.0		0.0	False		,,,				2504	0.0				p.I1263I		Atlas-SNP	.											.	DNAH9	695	.	0			c.C3789T						PASS	.	T		164,4242	111.6+/-149.8	6,152,2045	115	106	109		3789	-11.2	0	17	dbSNP_126	109	1,8599		0,1,4299	no	coding-synonymous	DNAH9	NM_001372.3		6,153,6344	TT,TC,CC		0.0116,3.7222,1.2686		1263/4487	11592928	165,12841	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon20			GCACATCGAGATC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3789C>T	17.37:g.11592928C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	88	46	0.522727	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.988;T|0.012	0.012	strong		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11592928	C	T	11592928	2	4	22	1	0	0	0	0	0	0	0	1	4608	874	31	1		1	DNAH9	17	11592928	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9683	11592928	69602282	8622	13730										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11622729	11622729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcaggcacaggcaagacCgagaccaccaaggacctggg	13	14	0	2	rs61739488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11622729C>T	ENST00000262442.4	+	27	5699	c.5631C>T	c.(5629-5631)acC>acT	p.T1877T	DNAH9_ENST00000454412.2_Silent_p.T1877T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1877	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCAAGACCGAGACCACCA	0.607													c|||	256	0.0511182	0.1861	0.0115	5008	,	,		16870	0.0		0.001	False		,,,				2504	0.001				p.T1877T		Atlas-SNP	.											.	DNAH9	695	.	0			c.C5631T						PASS	.	G		706,3700	294.1+/-283.0	52,602,1549	92	79	83		5631	-10.4	0	17	dbSNP_129	83	7,8593	4.3+/-15.6	0,7,4293	no	coding-synonymous	DNAH9	NM_001372.3		52,609,5842	TT,TC,CC		0.0814,16.0236,5.4821		1877/4487	11622729	713,12293	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon27			CAAGACCGAGACC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5631C>T	17.37:g.11622729C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	106	47	0.443396	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.950;T|0.050	0.050	strong		0.607	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11622729	C	T	11622729	2	4	22	1	0	0	0	0	0	0	0	1	4608	639	23	1		1	DNAH9	17	11622729	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29801	11622729	69572481	8623	13731										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11687721	11687721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctcggaaacttcccggcGtccctgcagaaatccatccc	8	16	0	1	rs16945337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11687721G>A	ENST00000262442.4	+	41	7994	c.7926G>A	c.(7924-7926)gcG>gcA	p.A2642A	DNAH9_ENST00000454412.2_Silent_p.A2642A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTCCCGGCGTCCCTGCAGA	0.542													G|||	239	0.0477236	0.0877	0.0058	5008	,	,		17425	0.002		0.0348	False		,,,				2504	0.0838				p.A2642A		Atlas-SNP	.											DNAH9,NS,carcinoma,+1,1	DNAH9	695	1	0			c.G7926A						PASS	.	G		358,4048	185.0+/-212.2	14,330,1859	177	169	172		7926	-2.6	0	17	dbSNP_123	172	195,8405	86.1+/-148.5	0,195,4105	no	coding-synonymous	DNAH9	NM_001372.3		14,525,5964	AA,AG,GG		2.2674,8.1253,4.2519		2642/4487	11687721	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon41			CCCGGCGTCCCTG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7926G>A	17.37:g.11687721G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	192	91	0.473958	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			G|0.956;A|0.044	0.044	strong		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11687721	G	A	11687721	2	1	22	1	0	0	0	0	0	0	0	1	4608	1132	40	1		1	DNAH9	17	11687721	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64992	11687721	69507489	8624	13732										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11865462	11865462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtggccactggaccagatGgccctgcaatgtgacatgac	13	11	0	3	rs1990236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:11865462G>A	ENST00000262442.4	+	68	13190	c.13122G>A	c.(13120-13122)atG>atA	p.M4374I	DNAH9_ENST00000608377.1_Missense_Mutation_p.M686I|DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.M4298I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4374			M -> I (in dbSNP:rs1990236). {ECO:0000269|Ref.1}.		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGACCAGATGGCCCTGCAAT	0.562													G|||	802	0.160144	0.1021	0.2392	5008	,	,		19654	0.1815		0.1948	False		,,,				2504	0.1247				p.M4374I		Atlas-SNP	.											.	DNAH9	695	.	0			c.G13122A						PASS	.	G	ILE/MET,ILE/MET	555,3851	249.3+/-256.8	35,485,1683	71	69	70		13122,2058	4.1	1	17	dbSNP_92	70	1538,7062	289.8+/-299.5	140,1258,2902	yes	missense,missense	DNAH9	NM_001372.3,NM_004662.2	10,10	175,1743,4585	AA,AG,GG		17.8837,12.5965,16.0926	benign,benign	4374/4487,686/799	11865462	2093,10913	2203	4300	6503	SO:0001583	missense	1770	exon68			CCAGATGGCCCTG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13122G>A	17.37:g.11865462G>A	ENSP00000262442:p.Met4374Ile	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	394	0.1804029304029304	41	0.08333333333333333	87	0.24033149171270718	102	0.17832167832167833	164	0.21635883905013192	G	15.07	2.725497	0.48833	0.125965	0.178837	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08458	3.09;3.09;3.09	5.04	4.05	0.47172	Dynein heavy chain (1);	0.040348	0.85682	D	0.000000	T	0.00012	0.0000	L	0.41236	1.265	0.09310	P	0.99999780763	B	0.31989	0.35	B	0.41202	0.35	T	0.47471	-0.9115	9	0.59425	D	0.04	.	13.8943	0.63761	0.0747:0.0:0.9253:0.0	rs1990236;rs12949339;rs17410772;rs52815919;rs56617954;rs61662056;rs1990236	4374	Q9NYC9	DYH9_HUMAN	I	4374;4298;2880;686	ENSP00000262442:M4374I;ENSP00000414874:M4298I;ENSP00000379323:M686I	ENSP00000262442:M4374I	M	+	3	0	DNAH9	11806187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.366000	0.73095	2.618000	0.88619	0.655000	0.94253	ATG	G|0.834;A|0.166	0.166	strong		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11865462	G	A	11865462	3	1	22	1	0	0	0	0	1	0	0	0	4608	1348	47	2	13392	2	DNAH9	17	11865462	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	177741	11865462	69329748	8625	13733										
COX10	1352	hgsc.bcm.edu	37	chr17	14005439	14005439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttctgtatcgcagctctGgttgtaagtaccactgcagc	10	10	2	0	rs2159132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:14005439G>A	ENST00000261643.3	+	4	581	c.504G>A	c.(502-504)ctG>ctA	p.L168L	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	168					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCGCAGCTCTGGTTGTAAGTA	0.493													A|||	2463	0.491813	0.5053	0.4813	5008	,	,		15872	0.3462		0.5855	False		,,,				2504	0.5348				p.L168L		Atlas-SNP	.											.	COX10	36	.	0			c.G504A						PASS	.	A		2250,2156	583.9+/-385.9	553,1144,506	158	133	142		504	-10.5	0	17	dbSNP_96	142	4975,3625	523.5+/-380.3	1422,2131,747	yes	coding-synonymous	COX10	NM_001303.3		1975,3275,1253	AA,AG,GG		42.1512,48.9333,44.4487		168/444	14005439	7225,5781	2203	4300	6503	SO:0001819	synonymous_variant	1352	exon4			AGCTCTGGTTGTA	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.504G>A	17.37:g.14005439G>A		Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	CCDS11166.1																																																																																			G|0.468;A|0.532	0.532	strong		0.493	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14005439	G	A	14005439	2	1	22	1	0	0	0	0	0	0	0	1	3762	1335	47	2		2	COX10	17	14005439	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2139977	14005439	67189771	8626	13734										
HS3ST3B1	9953	hgsc.bcm.edu	37	chr17	14248345	14248345	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttgcttgcgtttctcagGgacctgatgcccagaaccct	10	12	1	2	rs77608217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:14248345G>A	ENST00000360954.2	+	2	991	c.555G>A	c.(553-555)cgG>cgA	p.R185R		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	185					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTTCTCAGGGACCTGATGC	0.577													G|||	17	0.00339457	0.0129	0.0	5008	,	,		17223	0.0		0.0	False		,,,				2504	0.0				p.R185R		Atlas-SNP	.											.	HS3ST3B1	19	.	0			c.G555A						PASS	.	G		70,4336	62.9+/-100.1	1,68,2134	61	63	63		555	2.6	1	17	dbSNP_131	63	0,8600		0,0,4300	yes	coding-synonymous-near-splice	HS3ST3B1	NM_006041.1		1,68,6434	AA,AG,GG		0.0,1.5887,0.5382		185/391	14248345	70,12936	2203	4300	6503	SO:0001630	splice_region_variant	9953	exon2			TCTCAGGGACCTG	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.555-1G>A	17.37:g.14248345G>A		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	290	148	0.510345	NM_006041	B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	37	CCDS11167.1																																																																																			G|0.995;A|0.005	0.005	strong		0.577	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041	Silent	A	14248345	G	A	14248345	5	1	22	1	0	0	0	0	0	0	1	0	7366	1246	43	2	561	2	HS3ST3B1	17	14248345	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	242906	14248345	66946865	8627	13735										
TEKT3	64518	hgsc.bcm.edu	37	chr17	15217535	15217535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttccagctcatgctgggaCgctctgttggctctgcaata	10	11	3	0	rs144456077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15217535C>T	ENST00000395930.1	-	6	933	c.747G>A	c.(745-747)gcG>gcA	p.A249A	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Silent_p.A249A	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	249					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CATGCTGGGACGCTCTGTTGG	0.547													C|||	20	0.00399361	0.0151	0.0	5008	,	,		21690	0.0		0.0	False		,,,				2504	0.0				p.A249A		Atlas-SNP	.											TEKT3,NS,adenocarcinoma,0,1	TEKT3	64	1	0			c.G747A						PASS	.	C		47,4359	49.6+/-84.7	0,47,2156	174	111	132		747	-10.9	0	17	dbSNP_134	132	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TEKT3	NM_031898.2		0,51,6452	TT,TC,CC		0.0465,1.0667,0.3921		249/491	15217535	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	64518	exon6			CTGGGACGCTCTG	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.747G>A	17.37:g.15217535C>T		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	312	159	0.509615	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	CCDS11169.1																																																																																			C|0.996;T|0.004	0.004	strong		0.547	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		T	15217535	C	T	15217535	2	4	22	1	0	0	0	0	0	0	0	1	15751	523	19	1		1	TEKT3	17	15217535	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	969190	15217535	65977675	8628	13736										
TEKT3	64518	hgsc.bcm.edu	37	chr17	15234895	15234895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgttaaagtacaacctacaCgttccatgatgccaaaacac	5	12	0	1	rs7226363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15234895C>T	ENST00000395930.1	-	3	194	c.8G>A	c.(7-9)cGt>cAt	p.R3H	TEKT3_ENST00000338696.2_Missense_Mutation_p.R3H	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	3			R -> H (in dbSNP:rs7226363).		cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACAACCTACACGTTCCATGAT	0.403													C|||	977	0.195088	0.1513	0.1686	5008	,	,		15690	0.2212		0.2356	False		,,,				2504	0.2045				p.R3H		Atlas-SNP	.											.	TEKT3	64	.	0			c.G8A						PASS	.	C	HIS/ARG	696,3710	290.1+/-280.8	44,608,1551	71	67	68		8	-11	0	17	dbSNP_116	68	2077,6523	359.3+/-331.5	269,1539,2492	yes	missense	TEKT3	NM_031898.2	29	313,2147,4043	TT,TC,CC		24.1512,15.7966,21.3209	benign	3/491	15234895	2773,10233	2203	4300	6503	SO:0001583	missense	64518	exon3			CCTACACGTTCCA	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.8G>A	17.37:g.15234895C>T	ENSP00000379263:p.Arg3His	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	45	24	0.533333	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	436	0.19963369963369965	70	0.14227642276422764	66	0.18232044198895028	141	0.2465034965034965	159	0.20976253298153033	C	8.891	0.954112	0.18431	0.157966	0.241512	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.42513	4.15;4.15;1.56;1.56;0.97	5.51	-11.0	0.00169	.	0.900938	0.09728	N	0.763471	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.28350	0.208	B	0.13407	0.009	T	0.13255	-1.0516	9	0.38643	T	0.18	0.0046	1.0096	0.01495	0.3388:0.2037:0.2856:0.1719	rs7226363;rs52810686;rs61496150;rs7226363	3	Q9BXF9	TEKT3_HUMAN	H	3	ENSP00000379263:R3H;ENSP00000343995:R3H;ENSP00000446111:R3H;ENSP00000439713:R3H;ENSP00000444180:R3H	ENSP00000343995:R3H	R	-	2	0	TEKT3	15175620	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.810000	0.27183	-2.238000	0.00712	-0.878000	0.02970	CGT	C|0.794;T|0.206	0.206	strong		0.403	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		T	15234895	C	T	15234895	3	4	22	1	0	0	0	0	1	0	0	0	15751	536	19	1	1492	1	TEKT3	17	15234895	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17360	15234895	65960315	8629	13737										
CDRT4	284040	hgsc.bcm.edu	37	chr17	15341183	15341183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacagtctctggaatccgcAtgtaagtgtgtgggttctgg	15	7	2	0	rs2954759	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15341183A>C	ENST00000312177.6	-	4	643	c.363T>G	c.(361-363)caT>caG	p.H121Q	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	121			H -> Q (in dbSNP:rs2954759).							endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TGGAATCCGCATGTAAGTGTG	0.488													A|||	1603	0.320088	0.3646	0.2305	5008	,	,		19529	0.4583		0.0984	False		,,,				2504	0.409				p.H122Q		Atlas-SNP	.											.	CDRT4	11	.	0			c.T366G						PASS	.	A	GLN/HIS,	1487,2919	476.8+/-357.7	251,985,967	153	136	142		366,	-9.4	0	17	dbSNP_101	142	863,7737	195.8+/-240.9	43,777,3480	yes	missense,utr-3	CDRT4,FAM18B2-CDRT4	NM_001204477.1,NM_001204478.1	24,	294,1762,4447	CC,CA,AA		10.0349,33.7494,18.0686	possibly-damaging,	122/153,	15341183	2350,10656	2203	4300	6503	SO:0001583	missense	284040	exon4			ATCCGCATGTAAG	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.363T>G	17.37:g.15341183A>C	ENSP00000310031:p.His121Gln	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_001204477	A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37		599	0.2742673992673993	190	0.3861788617886179	81	0.22375690607734808	254	0.44405594405594406	74	0.09762532981530343	A	8.850	0.944256	0.18356	0.337494	0.100349	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.30448	1.53	4.67	-9.35	0.00633	.	0.925264	0.09032	N	0.858570	T	0.00012	0.0000	L	0.42245	1.32	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.43310	-0.9399	9	0.27785	T	0.31	-3.8928	1.3169	0.02109	0.3108:0.2808:0.2765:0.1319	rs2954759;rs2954759	121	Q8N9R6	CDRT4_HUMAN	Q	122;121	ENSP00000310031:H121Q	ENSP00000310031:H121Q	H	-	3	2	CDRT4	15281908	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.801000	0.01743	-1.745000	0.01337	-1.283000	0.01379	CAT	A|0.767;C|0.233	0.233	strong		0.488	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		C	15341183	A	C	15341183	3	2	22	1	0	0	0	0	1	0	0	0	3176	214	8	5	96	5	CDRT4	17	15341183	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	106288	15341183	65854027	8630	13738										
CDRT1	374286	hgsc.bcm.edu	37	chr17	15496727	15496727	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccttcatacagttcccatTgaagaaattgtaaattcgga					rs79385100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15496727T>G	ENST00000395906.3	-	11	1929	c.1930A>C	c.(1930-1932)Aat>Cat	p.N644H	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.N144H|CDRT1_ENST00000583965.1_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	644				N -> H (in Ref. 1; AAC52034/AAD10830). {ECO:0000305}.						endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CAGTTCCCATTGAAGAAATTG	0.512													.|||	987	0.197085	0.1936	0.281	5008	,	,		17558	0.2331		0.1213	False		,,,				2504	0.183				p.N644H		Atlas-SNP	.											.	CDRT1	83	.	0			c.A1930C						PASS	.	T	HIS/ASN	830,3576	318.5+/-295.7	75,680,1448	229	240	236		1930	3.6	1	17	dbSNP_131	236	1103,7497	221.0+/-258.6	72,959,3269	yes	missense	CDRT1	NM_006382.3	68	147,1639,4717	GG,GT,TT		12.8256,18.8379,14.8624	probably-damaging	644/753	15496727	1933,11073	2203	4300	6503	SO:0001583	missense	374286	exon11			TCCCATTGAAGAA	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1930A>C	17.37:g.15496727T>G	ENSP00000379242:p.Asn644His	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	249	112	0.449799	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	398	0.18223443223443223	82	0.16666666666666666	94	0.2596685082872928	126	0.2202797202797203	96	0.1266490765171504	t	17.55	3.416430	0.62511	0.188379	0.128256	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	T;T	0.19669	2.13;2.13	4.74	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.00012	0.0000	M	0.61703	1.905	0.09310	P	0.9999999999999785	D	0.65815	0.995	P	0.62885	0.908	T	0.15521	-1.0434	7	.	.	.	.	9.886	0.41262	0.1521:0.0:0.0:0.8479	.	644	O95170	CDRT1_HUMAN	H	144;674;644	ENSP00000346416:N144H;ENSP00000379242:N644H	.	N	-	1	0	CDRT1;RP11-385D13.1	15437452	0.999000	0.42202	0.988000	0.46212	0.915000	0.54546	4.784000	0.62411	1.781000	0.52344	0.528000	0.53228	AAT	T|0.825;G|0.175	0.175	strong		0.512	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		G	15496727	T	G	15496727	3	3	22	1	0	0	0	0	1	0	0	0	3174	1812	63	5	336	5	CDRT1	17	15496727	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	155544	15496727	65698483	8631	13739	287	2								
CDRT1	374286	hgsc.bcm.edu	37	chr17	15496730	15496730	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcatacagttcccattgaAgaaattgtaaattcggatct					rs8078150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15496730A>G	ENST00000395906.3	-	11	1926	c.1927T>C	c.(1927-1929)Ttc>Ctc	p.F643L	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.F143L|CDRT1_ENST00000583965.1_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	643			F -> L (in dbSNP:rs8078150). {ECO:0000269|PubMed:9403059}.							endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCCCATTGAAGAAATTGTAA	0.512													.|||	1806	0.360623	0.4675	0.33	5008	,	,		17454	0.3819		0.2346	False		,,,				2504	0.3456				p.F643L		Atlas-SNP	.											.	CDRT1	83	.	0			c.T1927C						PASS	.	G	LEU/PHE	1972,2434		457,1058,688	221	234	230		1927	2.5	1	17	dbSNP_116	230	2187,6413		277,1633,2390	no	missense	CDRT1	NM_006382.3	22	734,2691,3078	GG,GA,AA		25.4302,44.7571,31.9775	benign	643/753	15496730	4159,8847	2203	4300	6503	SO:0001583	missense	374286	exon11			CATTGAAGAAATT	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1927T>C	17.37:g.15496730A>G	ENSP00000379242:p.Phe643Leu	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	241	240	0.995851	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	744	0.34065934065934067	228	0.4634146341463415	114	0.3149171270718232	212	0.3706293706293706	190	0.25065963060686014	N	4.048	0.006554	0.07866	0.447571	0.254302	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	T;T	0.17054	2.3;2.3	4.74	2.47	0.30058	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.00210	-1.845	0.09310	P	0.9999999999997713	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	7	.	.	.	.	4.2827	0.10839	0.3871:0.1734:0.4395:0.0	rs8078150	643	O95170	CDRT1_HUMAN	L	143;673;643	ENSP00000346416:F143L;ENSP00000379242:F643L	.	F	-	1	0	CDRT1;RP11-385D13.1	15437455	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	2.533000	0.45667	0.301000	0.22738	-0.128000	0.14901	TTC	A|0.688;G|0.312	0.312	strong		0.512	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		G	15496730	A	G	15496730	3	3	22	1	0	0	0	0	1	0	0	0	3174	72	3	3	339	3	CDRT1	17	15496730	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	15496730	65698480	8632	13740	287	2								
CDRT1	374286	hgsc.bcm.edu	37	chr17	15498181	15498181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagaacaggcatttcacAgctccctcgtggccactgag	9	13	2	2	rs12601532	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15498181A>G	ENST00000395906.3	-	10	1727	c.1728T>C	c.(1726-1728)gcT>gcC	p.A576A	RP11-385D13.1_ENST00000455584.2_Silent_p.A886A|CDRT1_ENST00000354433.3_Silent_p.A76A|CDRT1_ENST00000583965.1_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	576										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGCATTTCACAGCTCCCTCGT	0.532													G|||	1837	0.366813	0.4697	0.3545	5008	,	,		17968	0.3899		0.2356	False		,,,				2504	0.3476				p.A576A		Atlas-SNP	.											.	CDRT1	83	.	0			c.T1728C						PASS	.	G		1590,2816		461,668,1074	88	105	99		1728	-11	0	17	dbSNP_120	99	1673,6927		269,1135,2896	no	coding-synonymous	CDRT1	NM_006382.3		730,1803,3970	GG,GA,AA		19.4535,36.0872,25.0884		576/753	15498181	3263,9743	2203	4300	6503	SO:0001819	synonymous_variant	374286	exon10			TTTCACAGCTCCC	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1728T>C	17.37:g.15498181A>G		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	198	195	0.984848	NM_006382	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1	654	0.29945054945054944	174	0.35365853658536583	109	0.3011049723756906	204	0.35664335664335667	167	0.22031662269129287	G	1.934	-0.445217	0.04604	0.360872	0.194535	ENSG00000251537	ENST00000455584	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20563	P	0.99988422	.	.	.	.	.	.	T	0.07347	-1.0777	3	.	.	.	.	6.3925	0.21595	0.3997:0.0791:0.4302:0.091	rs12601532	.	.	.	P	901	.	.	L	-	2	0	RP11-385D13.1	15438906	0.000000	0.05858	0.011000	0.14972	0.235000	0.25334	-3.535000	0.00439	-3.489000	0.00153	-1.922000	0.00515	CTG	A|0.715;G|0.285	0.285	strong		0.532	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		G	15498181	A	G	15498181	2	3	22	1	0	0	0	0	0	0	0	1	3174	175	7	3		3	CDRT1	17	15498181	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1451	15498181	65697029	8633	13741										
CDRT1	374286	hgsc.bcm.edu	37	chr17	15510888	15510888	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgaccccagtacctacGtgtcagagagaatgcgaaca	9	11	2	3	rs62070401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15510888G>A	ENST00000395906.3	-	6	1231	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	RP11-385D13.1_ENST00000455584.2_Splice_Site_p.T721M	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	411										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CAGTACCTACGTGTCAGAGAG	0.493													G|||	1466	0.292732	0.264	0.2767	5008	,	,		18548	0.4514		0.1511	False		,,,				2504	0.3252				p.T411M		Atlas-SNP	.											.	CDRT1	83	.	0			c.C1232T						PASS	.	G	MET/THR	1085,3321	390.3+/-327.6	143,799,1261	68	65	66		1232	-4.1	0.8	17	dbSNP_129	66	1459,7141	275.3+/-291.7	127,1205,2968	no	missense-near-splice	CDRT1	NM_006382.3	81	270,2004,4229	AA,AG,GG		16.9651,24.6255,19.5602	possibly-damaging	411/753	15510888	2544,10462	2203	4300	6503	SO:0001630	splice_region_variant	374286	exon6			ACCTACGTGTCAG	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1232+1C>T	17.37:g.15510888G>A		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	254	98	0.385827	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	570|570	0.260989010989011|0.260989010989011	100|100	0.2032520325203252|0.2032520325203252	86|86	0.23756906077348067|0.23756906077348067	256|256	0.44755244755244755|0.44755244755244755	128|128	0.16886543535620052|0.16886543535620052	G|G	9.414|9.414	1.081185|1.081185	0.20309|0.20309	0.246255|0.246255	0.169651|0.169651	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|T	.|0.58940	.|0.3	4.99|4.99	-4.14|-4.14	0.03892|0.03892	.|WD40 repeat-like-containing domain (1);	.|0.395907	.|0.18373	.|U	.|0.143193	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	P|P	0.99999999077601|0.99999999077601	.|D;B	.|0.56521	.|0.976;0.203	.|B;B	.|0.42959	.|0.403;0.029	T|T	0.32955|0.32955	-0.9887|-0.9887	4|8	.|.	.|.	.|.	.|.	6.6345|6.6345	0.22875|0.22875	0.5699:0.138:0.2921:0.0|0.5699:0.138:0.2921:0.0	rs62070401|rs62070401	.|411;735	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	C|M	736|441;411	.|ENSP00000379242:T411M	.|.	R|T	-|-	1|2	0|0	RP11-385D13.1|RP11-385D13.1	15451613|15451613	0.231000|0.231000	0.23751|0.23751	0.832000|0.832000	0.32986|0.32986	0.010000|0.010000	0.07245|0.07245	-0.782000|-0.782000	0.04643|0.04643	-0.694000|-0.694000	0.05113|0.05113	-1.259000|-1.259000	0.01468|0.01468	CGT|ACG	G|0.754;A|0.246	0.246	strong		0.493	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	Missense_Mutation	A	15510888	G	A	15510888	5	1	22	1	0	0	0	0	0	0	1	0	3174	1159	40	1	1054	1	CDRT1	17	15510888	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12707	15510888	65684322	8634	13742										
CDRT1	374286	hgsc.bcm.edu	37	chr17	15510988	15510988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtatgcagtccacaggtTgtactcattctaacaaggga	10	9	2	0	rs62070402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15510988T>C	ENST00000395906.3	-	6	1131	c.1132A>G	c.(1132-1134)Aac>Gac	p.N378D	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.N688D	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	378										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTCCACAGGTTGTACTCATTC	0.483													T|||	1466	0.292732	0.264	0.2767	5008	,	,		20919	0.4514		0.1511	False		,,,				2504	0.3252				p.N378D		Atlas-SNP	.											.	CDRT1	83	.	0			c.A1132G						PASS	.	T	ASP/ASN	1076,3330	382.5+/-324.5	143,790,1270	80	76	78		1132	2.7	1	17	dbSNP_129	78	1443,7153	270.4+/-288.9	125,1193,2980	no	missense	CDRT1	NM_006382.3	23	268,1983,4250	CC,CT,TT		16.7869,24.4212,19.3739	possibly-damaging	378/753	15510988	2519,10483	2203	4298	6501	SO:0001583	missense	374286	exon6			ACAGGTTGTACTC	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1132A>G	17.37:g.15510988T>C	ENSP00000379242:p.Asn378Asp	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	192	81	0.421875	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.328938	0.41197	0.244212	0.167869	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.21734	1.99	4.99	2.69	0.31865	F-box domain, Skp2-like (1);	0.557353	0.14804	U	0.297455	T	0.00012	0.0000	M	0.69823	2.125	0.09310	P	0.9999999699041	P;B	0.42827	0.791;0.421	B;B	0.32677	0.15;0.107	T	0.30297	-0.9983	9	0.35671	T	0.21	.	5.8404	0.18630	0.0:0.0906:0.1708:0.7386	rs62070402	378;702	O95170;Q59EB2	CDRT1_HUMAN;.	D	408;378	ENSP00000379242:N378D	ENSP00000261644:N408D	N	-	1	0	RP11-385D13.1	15451713	0.998000	0.40836	0.993000	0.49108	0.814000	0.46013	1.550000	0.36223	0.824000	0.34613	0.459000	0.35465	AAC	T|0.810;C|0.190	0.190	strong		0.483	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		C	15510988	T	C	15510988	3	2	22	1	0	0	0	0	1	0	0	0	3174	1812	63	2	1154	2	CDRT1	17	15510988	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	100	15510988	65684222	8635	13743										
TRIM16	10626	hgsc.bcm.edu	37	chr17	15532430	15532430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagggatgctcccagggcgtGgtgttggtgaccttgcggtt	17	8	0	1	rs7225221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15532430G>A	ENST00000578237.1	-	11	2049	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	TRIM16_ENST00000336708.7_Silent_p.T398T|RP11-385D13.1_ENST00000455584.2_Silent_p.T398T|TRIM16_ENST00000579219.1_Missense_Mutation_p.P95L|TRIM16_ENST00000416464.2_Silent_p.T268T|TRIM16_ENST00000577886.1_Silent_p.T182T			O95361	TRI16_HUMAN	tripartite motif containing 16	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CCCAGGGCGTGGTGTTGGTGA	0.587													G|||	309	0.0617013	0.2269	0.0115	5008	,	,		19836	0.0		0.001	False		,,,				2504	0.0				p.T398T		Atlas-SNP	.											.	TRIM16	45	.	0			c.C1194T						PASS	.	G		746,3660		67,612,1524	44	42	43		1194	-1.7	0.8	17	dbSNP_116	43	5,8587		0,5,4291	no	coding-synonymous	TRIM16	NM_006470.3		67,617,5815	AA,AG,GG		0.0582,16.9315,5.7778		398/565	15532430	751,12247	2203	4296	6499	SO:0001819	synonymous_variant	10626	exon9			GGGCGTGGTGTTG	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1194C>T	17.37:g.15532430G>A		Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	324	142	0.438272	NM_006470	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	CCDS11171.1	87	0.03983516483516483	83	0.16869918699186992	4	0.011049723756906077	0	0.0	0	0.0	.	12.03	1.816778	0.32145	0.169315	5.82E-4	ENSG00000251537	ENST00000455584	.	.	.	4.53	-1.68	0.08212	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.9999999999999986	.	.	.	.	.	.	T	0.23726	-1.0180	3	.	.	.	.	5.0704	0.14604	0.0891:0.4085:0.378:0.1244	rs7225221	.	.	.	L	413	.	.	P	-	2	0	RP11-385D13.1	15473155	0.983000	0.35010	0.789000	0.31954	0.992000	0.81027	0.170000	0.16663	0.096000	0.17463	0.650000	0.86243	CCA	G|0.953;A|0.047	0.047	strong		0.587	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		A	15532430	G	A	15532430	2	1	22	1	0	0	0	0	0	0	0	1	16488	1335	47	2		2	TRIM16	17	15532430	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21442	15532430	65662780	8636	13744										
TRIM16	10626	hgsc.bcm.edu	37	chr17	15546132	15546133	+	Splice_Site	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcactggagttcagcctINSaaaagtggaaagcagagaat					rs577610193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15546132_15546133insA	ENST00000578237.1	-	7	1375		c.e7-2		TRIM16_ENST00000336708.7_Splice_Site|RP11-385D13.1_ENST00000455584.2_Splice_Site|TRIM16_ENST00000579219.1_5'UTR|TRIM16_ENST00000581224.1_Splice_Site|TRIM16_ENST00000416464.2_Splice_Site|TRIM16_ENST00000577886.1_5'UTR			O95361	TRI16_HUMAN	tripartite motif containing 16						histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GAGTTCAGCCTAAAAGTGGAAA	0.515													AAAAA|AAAA|AAAAA|deletion	377	0.0752796	0.2511	0.0173	5008	,	,		20717	0.0		0.0099	False		,,,				2504	0.0235				.		Atlas-Indel	.											.	TRIM16	45	.	0			c.520-2->T						PASS	.			457,1595		140,177,709						3.8	0.9			2	44,3468		15,14,1727	no	splice-3	TRIM16	NM_006470.3		155,191,2436	A1A1,A1R,RR		1.2528,22.271,9.0043				501,5063				SO:0001630	splice_region_variant	10626	exon6			.	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.520-2->T	17.37:g.15546136_15546136dupA		Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	402	88	0.218905	NM_006470	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Splice_Site	INS	ENST00000578237.1	37	CCDS11171.1																																																																																			.	.	none		0.515	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470	Intron	A	15546133	-	A	15546132	8	5	22	1	0	1	1	0	0	0	1	0	16488	1536	53	0	1196	0	TRIM16	17	15546132	Splice_Site	INS	-	TCGA-G8-6324-01A-11D-2210-10	13702	15546132	65649078	8637	13745										
TRIM16	10626	hgsc.bcm.edu	37	chr17	15554561	15554561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttgtggtccttcactggCtcggtcagcaggtggctttg	14	10	2	0	rs2074890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15554561C>A	ENST00000578237.1	-	6	1218	c.363G>T	c.(361-363)gaG>gaT	p.E121D	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.E121D|RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.E121D			O95361	TRI16_HUMAN	tripartite motif containing 16	121			E -> D (in dbSNP:rs2074890).		histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.E121D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CCTTCACTGGCTCGGTCAGCA	0.562													C|||	770	0.153754	0.323	0.0418	5008	,	,		22362	0.1508		0.0378	False		,,,				2504	0.1268				p.E121D		Atlas-SNP	.											TRIM16,NS,carcinoma,0,1	TRIM16	45	1	1	Substitution - Missense(1)	stomach(1)	c.G363T						PASS	.	C	ASP/GLU	1100,3306	397.2+/-330.3	141,818,1244	161	143	149		363	3.4	1	17	dbSNP_96	149	405,8195	127.5+/-185.8	13,379,3908	yes	missense	TRIM16	NM_006470.3	45	154,1197,5152	AA,AC,CC		4.7093,24.966,11.5716		121/565	15554561	1505,11501	2203	4300	6503	SO:0001583	missense	10626	exon4			CACTGGCTCGGTC	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.363G>T	17.37:g.15554561C>A	ENSP00000463188:p.Glu121Asp	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	191	80	0.418848	NM_006470	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	280|280	0.1282051282051282|0.1282051282051282	145|145	0.29471544715447157|0.29471544715447157	18|18	0.049723756906077346|0.049723756906077346	84|84	0.14685314685314685|0.14685314685314685	33|33	0.04353562005277045|0.04353562005277045	c|c	12.57|12.57	1.977817|1.977817	0.34942|0.34942	0.24966|0.24966	0.047093|0.047093	ENSG00000221926|ENSG00000251537	ENST00000336708|ENST00000455584	T|T	0.43688|0.48201	0.94|0.82	5.47|5.47	3.44|3.44	0.39384|0.39384	Zinc finger, B-box (1);|.	0.461817|.	0.23021|.	N|.	0.052847|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35414|0.35414	1.06|1.06	0.38089|0.38089	P|P	0.06308800000000003|0.06308800000000003	B;P|.	0.49090|.	0.018;0.919|.	B;P|.	0.44447|.	0.009;0.45|.	T|T	0.31833|0.31833	-0.9929|-0.9929	9|5	0.02654|.	T|.	1|.	.|.	6.6454|6.6454	0.22933|0.22933	0.0:0.7009:0.1508:0.1483|0.0:0.7009:0.1508:0.1483	rs2074890;rs59821626;rs2074890|rs2074890;rs59821626;rs2074890	121;135|.	O95361;Q59EB2|.	TRI16_HUMAN;.|.	D|I	121|136	ENSP00000338989:E121D|ENSP00000402644:S136I	ENSP00000338989:E121D|.	E|S	-|-	3|2	2|0	TRIM16|RP11-385D13.1	15495286|15495286	0.999000|0.999000	0.42202|0.42202	0.974000|0.974000	0.42286|0.42286	0.810000|0.810000	0.45777|0.45777	0.495000|0.495000	0.22483|0.22483	0.650000|0.650000	0.30769|0.30769	0.563000|0.563000	0.77884|0.77884	GAG|AGC	C|0.869;A|0.131	0.131	strong		0.562	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		A	15554561	C	A	15554561	3	1	22	1	0	0	0	0	1	0	0	0	16488	796	28	4	1355	4	TRIM16	17	15554561	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8429	15554561	65640649	8638	13746										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15604508	15604508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatttccaagagaagagcaCagaagagggagaagtggctg	14	7	0	5	rs144115902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15604508C>G	ENST00000464847.2	+	2	633	c.80C>G	c.(79-81)aCa>aGa	p.T27R	ZNF286A_ENST00000421016.1_Missense_Mutation_p.T27R|ZNF286A_ENST00000413242.2_Missense_Mutation_p.T27R|ZNF286A_ENST00000593105.1_Missense_Mutation_p.T17R|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395894.2_Missense_Mutation_p.T27R|ZNF286A_ENST00000395893.2_Missense_Mutation_p.T27R|ZNF286A_ENST00000472486.1_Missense_Mutation_p.T17R|ZNF286A_ENST00000585194.1_Missense_Mutation_p.T27R|ZNF286A_ENST00000581529.1_Missense_Mutation_p.T17R|ZNF286A_ENST00000583566.1_Missense_Mutation_p.T27R|ZNF286A_ENST00000580259.1_Missense_Mutation_p.T27R			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGAAGAGCACAGAAGAGGGA	0.478													C|||	121	0.0241613	0.0855	0.0115	5008	,	,		21616	0.0		0.0	False		,,,				2504	0.0				p.T27R		Atlas-SNP	.											.	ZNF286A	58	.	0			c.C80G						PASS	.	C	ARG/THR,ARG/THR	334,4072		6,322,1875	220	201	207		80,80	4.3	0.8	17	dbSNP_134	207	4,8592		0,4,4294	no	missense,missense	ZNF286A	NM_001130842.1,NM_020652.2	71,71	6,326,6169	GG,GC,CC		0.0465,7.5806,2.5996	benign,benign	27/522,27/522	15604508	338,12664	2203	4298	6501	SO:0001583	missense	57335	exon3			AGAGCACAGAAGA	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.80C>G	17.37:g.15604508C>G	ENSP00000464218:p.Thr27Arg	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	222	110	0.495495	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	49	0.022435897435897436	41	0.08333333333333333	6	0.016574585635359115	0	0.0	2	0.002638522427440633	.	12.15	1.851494	0.32699	0.075806	4.65E-4	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.07327	3.55;3.2;5.46;5.59	4.3	4.3	0.51218	.	1.408720	0.05359	N	0.533364	T	0.00384	0.0012	N	0.14661	0.345	0.26812	N	0.968979	B	0.19583	0.037	B	0.20955	0.032	T	0.25152	-1.0140	10	0.14252	T	0.57	-0.6478	12.9853	0.58588	0.0:1.0:0.0:0.0	.	27	Q9HBT8	Z286A_HUMAN	R	27;17;27;27	ENSP00000397163:T27R;ENSP00000408168:T17R;ENSP00000379231:T27R;ENSP00000379230:T27R	ENSP00000435872:T27R	T	+	2	0	ZNF286A	15545233	0.001000	0.12720	0.848000	0.33437	0.905000	0.53344	0.004000	0.13106	2.320000	0.78422	0.555000	0.69702	ACA	C|0.978;G|0.022	0.022	strong		0.478	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		G	15604508	C	G	15604508	3	3	22	1	0	0	0	0	1	0	0	0	17820	478	17	4	86	4	ZNF286A	17	15604508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49947	15604508	65590702	8639	13747										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15611495	15611495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttccaaacctgagagcTacaacttggagaatggaaaa	9	8	0	2	rs3760299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15611495T>C	ENST00000464847.2	+	4	821	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	ZNF286A_ENST00000421016.1_Missense_Mutation_p.Y90H|ZNF286A_ENST00000413242.2_Missense_Mutation_p.Y90H|ZNF286A_ENST00000593105.1_Missense_Mutation_p.Y80H|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395894.2_Missense_Mutation_p.Y90H|ZNF286A_ENST00000395893.2_Missense_Mutation_p.Y90H|ZNF286A_ENST00000472486.1_Missense_Mutation_p.Y80H|ZNF286A_ENST00000585194.1_Missense_Mutation_p.Y90H|ZNF286A_ENST00000581529.1_Silent_p.A41A|ZNF286A_ENST00000583566.1_Missense_Mutation_p.Y90H|ZNF286A_ENST00000580259.1_Silent_p.A51A			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		Y -> H (in dbSNP:rs3760299). {ECO:0000269|PubMed:11347906}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACCTGAGAGCTACAACTTGGA	0.378													T|||	2545	0.508187	0.5703	0.4207	5008	,	,		11126	0.626		0.3708	False		,,,				2504	0.5061				p.Y90H		Atlas-SNP	.											ZNF286A,NS,carcinoma,0,1	ZNF286A	58	1	0			c.T268C						PASS	.	T	HIS/TYR,HIS/TYR	2462,1944	615.4+/-392.6	698,1066,439	55	56	55		268,268	3.9	0.3	17	dbSNP_107	55	3159,5441	476.7+/-369.5	575,2009,1716	yes	missense,missense	ZNF286A	NM_001130842.1,NM_020652.2	83,83	1273,3075,2155	CC,CT,TT		36.7326,44.1217,43.2185	benign,benign	90/522,90/522	15611495	5621,7385	2203	4300	6503	SO:0001583	missense	57335	exon5			GAGAGCTACAACT	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.268T>C	17.37:g.15611495T>C	ENSP00000464218:p.Tyr90His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	104	58	0.557692	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	1057	0.483974358974359	287	0.5833333333333334	140	0.3867403314917127	344	0.6013986013986014	286	0.37730870712401055	t	9.566	1.119785	0.20877	0.558783	0.367326	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.00801	5.68;5.68;5.68;5.68	4.97	3.9	0.45041	Krueppel-associated box (3);	.	.	.	.	T	0.00012	0.0000	N	0.04880	-0.145	0.47065	P	6.930000000000547E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	8	0.62326	D	0.03	-3.2436	7.5099	0.27566	0.0:0.0964:0.0:0.9036	rs3760299;rs52804179;rs59667491;rs3760299	90	Q9HBT8	Z286A_HUMAN	H	90;80;90;90	ENSP00000397163:Y90H;ENSP00000408168:Y80H;ENSP00000379231:Y90H;ENSP00000379230:Y90H	ENSP00000435872:Y90H	Y	+	1	0	ZNF286A	15552220	0.129000	0.22400	0.340000	0.25575	0.402000	0.30811	1.340000	0.33896	1.029000	0.39812	0.533000	0.62120	TAC	T|0.541;C|0.459	0.459	strong		0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		C	15611495	T	C	15611495	3	2	22	1	0	0	0	0	1	0	0	0	17820	1522	53	3	282	3	ZNF286A	17	15611495	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6987	15611495	65583715	8640	13748										
NCOR1	9611	hgsc.bcm.edu	37	chr17	15968887	15968887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaagttcacttgcatctgTtgtgaggtaatgtaatcatt	9	7	3	1	rs7210057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:15968887T>C	ENST00000268712.3	-	33	5120	c.4863A>G	c.(4861-4863)caA>caG	p.Q1621Q	NCOR1_ENST00000395857.3_Silent_p.Q205Q|NCOR1_ENST00000395851.1_Silent_p.Q1637Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1621	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)		CTTGCATCTGTTGTGAGGTAA	0.483													T|||	96	0.0191693	0.0666	0.0115	5008	,	,		19833	0.0		0.0	False		,,,				2504	0.0				p.Q1637Q		Atlas-SNP	.											.	NCOR1	240	.	0			c.A4911G						PASS	.	T	,	229,4177	137.3+/-173.1	5,219,1979	192	167	175		4911,4863	0.8	1	17	dbSNP_116	175	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	NCOR1	NM_001190440.1,NM_006311.3	,	5,222,6276	CC,CT,TT		0.0349,5.1975,1.7838	,	1637/2338,1621/2441	15968887	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	9611	exon32			CATCTGTTGTGAG	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.4863A>G	17.37:g.15968887T>C		Somatic	299	1	0.00334448		WXS	Illumina HiSeq	Phase_I	314	150	0.477707	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																			T|0.979;C|0.021	0.021	strong		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	15968887	T	C	15968887	2	2	22	1	0	0	0	0	0	0	0	1	10235	1722	60	2		2	NCOR1	17	15968887	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	357392	15968887	65226323	8641	13749										
NCOR1	9611	hgsc.bcm.edu	37	chr17	16001756	16001756	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttttaacggagatgagacGagtatagatccagtggggtt	15	4	0	3	rs79413281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16001756G>A	ENST00000268712.3	-	21	3002	c.2745C>T	c.(2743-2745)ctC>ctT	p.L915L	NCOR1_ENST00000395848.1_Silent_p.L822L|NCOR1_ENST00000395851.1_Silent_p.L931L|RNU6-314P_ENST00000516574.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	915					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)		GAGATGAGACGAGTATAGATC	0.378													a|||	109	0.0217652	0.0764	0.0115	5008	,	,		17847	0.0		0.0	False		,,,				2504	0.0				p.L931L		Atlas-SNP	.											.	NCOR1	240	.	0			c.C2793T						PASS	.	A	,,	262,4144	802.4+/-415.7	7,248,1948	87	87	87		2466,2793,2745	-5.2	0.8	17	dbSNP_132	87	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR1	NM_001190438.1,NM_001190440.1,NM_006311.3	,,	7,252,6244	AA,AG,GG		0.0465,5.9464,2.0452	,,	822/915,931/2338,915/2441	16001756	266,12740	2203	4300	6503	SO:0001819	synonymous_variant	9611	exon20			TGAGACGAGTATA	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.2745C>T	17.37:g.16001756G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	51	0.428571	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																			G|0.981;A|0.019	0.019	strong		0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	16001756	G	A	16001756	2	1	22	1	0	0	0	0	0	0	0	1	10235	1045	37	1		1	NCOR1	17	16001756	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32869	16001756	65193454	8642	13750										
UBB	7314	hgsc.bcm.edu	37	chr17	16285404	16285404	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctttctgactacaacatCcagaaggagtcgaccctgca	7	13	2	2	rs9908960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16285404C>T	ENST00000395837.1	+	2	364	c.183C>T	c.(181-183)atC>atT	p.I61I	UBB_ENST00000302182.3_Silent_p.I61I|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.I61I|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.I61I	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	61	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACTACAACATCCAGAAGGAGT	0.562													C|||	308	0.0615016	0.1619	0.0648	5008	,	,		22409	0.0198		0.0109	False		,,,				2504	0.0184				p.I61I	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											.	UBB	30	.	0			c.C183T						PASS	.	C		599,3807	262.5+/-264.9	39,521,1643	78	77	78		183	3.1	1	17	dbSNP_119	78	122,8478	63.1+/-125.2	0,122,4178	no	coding-synonymous	UBB	NM_018955.2		39,643,5821	TT,TC,CC		1.4186,13.5951,5.5436		61/230	16285404	721,12285	2203	4300	6503	SO:0001819	synonymous_variant	7314	exon2			CAACATCCAGAAG		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.183C>T	17.37:g.16285404C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	179	82	0.458101	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			C|0.947;T|0.053	0.053	strong		0.562	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285404	C	T	16285404	2	4	22	1	0	0	0	0	0	0	0	1	16838	845	30	2		2	UBB	17	16285404	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	283648	16285404	64909806	8643	13751										
UBB	7314	hgsc.bcm.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					p.T90T	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,2	UBB	30	2	0			c.C270T						scavenged	.						75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314	exon2			CATCACCCTGGAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		Somatic	205	1	0.00487805		WXS	Illumina HiSeq	Phase_I	220	5	0.0227273	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			C|0.996;T|0.004	0.004	strong		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285491	C	T	16285491	2	4	22	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87	16285491	64909719	8644	13752										
UBB	7314	hgsc.bcm.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000302182.3_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.Q107Q	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					p.Q107Q	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,NS,carcinoma,0,1	UBB	30	1	1	Substitution - coding silent(1)	lung(1)	c.G321A						scavenged	.						114	110	112					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314	exon2			GATCCAGGATAAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A		Somatic	267	2	0.00749064		WXS	Illumina HiSeq	Phase_I	281	6	0.0213523	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|0.540;A|0.460	0.460	strong		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		A	16285542	G	A	16285542	2	1	22	1	0	0	0	0	0	0	0	1	16838	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	16285542	64909668	8645	13753										
TRPV2	51393	hgsc.bcm.edu	37	chr17	16325968	16325968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgaaccttaaggacggAgtcaatgcctgcattctgcc	11	11	2	1	rs8121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16325968A>G	ENST00000338560.7	+	4	789	c.390A>G	c.(388-390)ggA>ggG	p.G130G	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	130	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.G130G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAAGGACGGAGTCAATGCCT	0.572													G|||	1960	0.391374	0.6475	0.3818	5008	,	,		18556	0.2321		0.3877	False		,,,				2504	0.2198				p.G130G		Atlas-SNP	.											TRPV2,right_upper_lobe,carcinoma,+1,2	TRPV2	74	2	1	Substitution - coding silent(1)	stomach(1)	c.A390G						PASS	.	G		2586,1820	532.3+/-373.4	765,1056,382	82	67	72		390	-5.9	0	17	dbSNP_52	72	3364,5236	641.2+/-399.7	648,2068,1584	no	coding-synonymous	TRPV2	NM_016113.4		1413,3124,1966	GG,GA,AA		39.1163,41.3073,45.7481		130/765	16325968	5950,7056	2203	4300	6503	SO:0001819	synonymous_variant	51393	exon4			GGACGGAGTCAAT	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.390A>G	17.37:g.16325968A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	118	67	0.567797	NM_016113	A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	CCDS32576.1	889	0.40705128205128205	301	0.6117886178861789	153	0.42265193370165743	148	0.25874125874125875	287	0.3786279683377309	G	0.717	-0.784796	0.02907	0.586927	0.391163	ENSG00000187688	ENST00000455666	.	.	.	5.24	-5.94	0.02247	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999865	.	.	.	.	.	.	T	0.46569	-0.9182	3	.	.	.	-7.0661	0.4381	0.00482	0.2267:0.1978:0.2647:0.3108	rs8121;rs1129232;rs3186904;rs60740001;rs8121	.	.	.	G	88	.	.	S	+	1	0	TRPV2	16266693	0.000000	0.05858	0.029000	0.17559	0.089000	0.18198	-1.548000	0.02184	-1.326000	0.02266	-0.812000	0.03155	AGT	A|0.561;G|0.439	0.439	strong		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		G	16325968	A	G	16325968	2	3	22	1	0	0	0	0	0	0	0	1	16593	291	11	3		3	TRPV2	17	16325968	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40426	16325968	64869242	8646	13754										
TRPV2	51393	hgsc.bcm.edu	37	chr17	16336992	16336992	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actaagccagatggcagcccCgatgagcgctggtgcttcag	13	12	1	2	rs14039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16336992C>G	ENST00000338560.7	+	13	2493	c.2094C>G	c.(2092-2094)ccC>ccG	p.P698P	TRPV2_ENST00000577397.1_Silent_p.P268P	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	698					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.P698P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCAGCCCCGATGAGCGCT	0.627													C|||	1443	0.288139	0.3124	0.3401	5008	,	,		20447	0.2232		0.3579	False		,,,				2504	0.2137				p.P698P		Atlas-SNP	.											TRPV2,NS,carcinoma,0,1	TRPV2	74	1	1	Substitution - coding silent(1)	stomach(1)	c.C2094G						PASS	.	C		1464,2942	469.4+/-355.4	260,944,999	111	97	102		2094	-5.2	0.1	17	dbSNP_52	102	3244,5356	485.9+/-371.7	609,2026,1665	no	coding-synonymous	TRPV2	NM_016113.4		869,2970,2664	GG,GC,CC		37.7209,33.2274,36.1987		698/765	16336992	4708,8298	2203	4300	6503	SO:0001819	synonymous_variant	51393	exon13			CAGCCCCGATGAG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2094C>G	17.37:g.16336992C>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_016113	A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																			T|0.000;G|0.355;C|0.645	0.355	strong		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		G	16336992	C	G	16336992	2	3	22	1	0	0	0	0	0	0	0	1	16593	639	23	4		4	TRPV2	17	16336992	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11024	16336992	64858218	8647	13755										
CCDC144A	9720	hgsc.bcm.edu	37	chr17	16664991	16664991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaagaaagagcaaggaagGagatagaagaaaaattaaac	11	2	0	6	rs55685346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16664991G>A	ENST00000360524.8	+	13	3701	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1209K|CCDC144A_ENST00000443444.2_Missense_Mutation_p.E1209K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E975K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1209K	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1209								p.E1209K(1)									AGCAAGGAAGGAGATAGAAGA	0.333													G|||	1235	0.246605	0.3918	0.1628	5008	,	,		22102	0.2103		0.0765	False		,,,				2504	0.3221				p.E1209K		Atlas-SNP	.											CCDC144B,NS,carcinoma,0,1	CCDC144A	53	1	1	Substitution - Missense(1)	prostate(1)	c.G3625A						PASS	.	G	LYS/GLU	1182,2446		164,854,796	45	60	55		3625	2.1	0	17	dbSNP_134	55	507,7633		9,489,3572	no	missense	CCDC144A	NM_014695.1	56	173,1343,4368	AA,AG,GG		6.2285,32.5799,14.3525	benign	1209/1428	16664991	1689,10079	1814	4070	5884	SO:0001583	missense	9720	exon13			AGGAAGGAGATAG	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3625G>A	17.37:g.16664991G>A	ENSP00000353717:p.Glu1209Lys	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	445	117	0.262921	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	384	0.17582417582417584	183	0.3719512195121951	57	0.1574585635359116	98	0.17132867132867133	46	0.06068601583113457	.	2.937	-0.219717	0.06061	0.325799	0.062285	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	T;T;T;T	0.03635	3.86;3.86;3.86;3.94	2.1	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	P;B	0.43352	0.804;0.018	B;B	0.40066	0.318;0.006	T	0.45775	-0.9238	8	0.15499	T	0.54	.	9.8677	0.41154	0.0:0.0:1.0:0.0	rs3869489;rs4003975;rs4996825;rs3869489	975;1209	A2RUR9-3;A2RUR9	.;C144A_HUMAN	K	1209;1209;1209;975	ENSP00000382215:E1209K;ENSP00000439262:E1209K;ENSP00000353717:E1209K;ENSP00000394201:E975K	ENSP00000353717:E1209K	E	+	1	0	CCDC144A	16605716	0.997000	0.39634	0.003000	0.11579	0.003000	0.03518	2.952000	0.49097	1.160000	0.42584	0.184000	0.17185	GAG	.	.	weak		0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			A	16664991	G	A	16664991	3	1	22	1	0	0	0	0	1	0	0	0	2777	1175	41	2	3675	2	CCDC144A	17	16664991	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	327999	16664991	64530219	8648	13756										
TNFRSF13B	23495	hgsc.bcm.edu	37	chr17	16843708	16843708	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagcagggatcccccctcTtcttgaggaagcaggccacc	12	14	2	1	rs74811083|rs376630110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:16843708T>A	ENST00000261652.2	-	4	575	c.563A>T	c.(562-564)aAg>aTg	p.K188M	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.K142M|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.K142M|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	188					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ATCCCCCCTCTTCTTGAGGAA	0.647									IgA Deficiency, Selective				.|||	74	0.0147764	0.053	0.0058	5008	,	,		15377	0.0		0.0	False		,,,				2504	0.0				p.K188M		Atlas-SNP	.											.	TNFRSF13B	34	.	0			c.A563T						PASS	.	T	MET/LYS	217,4189	132.1+/-168.6	3,211,1989	73	74	74		563	2.4	0.8	17	dbSNP_131	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TNFRSF13B	NM_012452.2	95	3,212,6288	AA,AT,TT		0.0116,4.9251,1.6761	benign	188/294	16843708	218,12788	2203	4300	6503	SO:0001583	missense	23495	exon4	Familial Cancer Database	IGAD1, IGAD2	CCCCTCTTCTTGA	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.563A>T	17.37:g.16843708T>A	ENSP00000261652:p.Lys188Met	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	94	58	0.617021	NM_012452	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	t	3.080	-0.189246	0.06299	0.049251	1.16E-4	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94417	-3.42;-3.38	3.43	2.43	0.29744	.	0.227067	0.28778	N	0.014167	T	0.70527	0.3234	L	0.39898	1.24	0.28171	N	0.928553	P;P	0.49447	0.924;0.875	P;B	0.47981	0.563;0.36	T	0.77109	-0.2709	10	0.87932	D	0	-20.7502	6.3592	0.21419	0.0:0.8441:0.0:0.1559	.	142;188	O14836-2;O14836	.;TR13B_HUMAN	M	142;188	ENSP00000413453:K142M;ENSP00000261652:K188M	ENSP00000261652:K188M	K	-	2	0	TNFRSF13B	16784433	0.992000	0.36948	0.846000	0.33378	0.143000	0.21401	0.653000	0.24902	0.520000	0.28426	-0.477000	0.04895	AAG	T|0.985;A|0.015	0.015	strong		0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			A	16843708	T	A	16843708	3	1	22	1	0	0	0	0	1	0	0	0	16284	1609	56	5	326	5	TNFRSF13B	17	16843708	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	178717	16843708	64351502	8649	13757										
MPRIP	23164	hgsc.bcm.edu	37	chr17	17030129	17030129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgacgcctgagaaggaGcatttcatccgggcggagac	13	10	2	3	rs140002644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17030129G>A	ENST00000341712.4	+	4	381	c.381G>A	c.(379-381)gaG>gaA	p.E127E	MPRIP_ENST00000395811.5_Silent_p.E127E|MPRIP_ENST00000395804.3_Silent_p.E127E|MPRIP_ENST00000444976.1_Silent_p.E127E			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	127	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGAGAAGGAGCATTTCATCC	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20330	0.0		0.0	False		,,,				2504	0.0				p.E127E		Atlas-SNP	.											.	MPRIP	87	.	0			c.G381A						PASS	.	G	,	21,4385	28.1+/-56.4	0,21,2182	92	89	90		381,381	3.4	1	17	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MPRIP	NM_015134.3,NM_201274.3	,	0,21,6482	AA,AG,GG		0.0,0.4766,0.1615	,	127/1039,127/1026	17030129	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	23164	exon4			GAAGGAGCATTTC	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.381G>A	17.37:g.17030129G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	136	52	0.382353	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	CCDS32578.1																																																																																			G|0.998;A|0.002	0.002	strong		0.587	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		A	17030129	G	A	17030129	2	1	22	1	0	0	0	0	0	0	0	1	9743	962	34	2		2	MPRIP	17	17030129	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	186421	17030129	64165081	8650	13758										
MPRIP	23164	hgsc.bcm.edu	37	chr17	17075181	17075181	+	Splice_Site	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcggccaccatctcaggTtggggggtggggtaaccctg					rs3215213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17075181delT	ENST00000341712.4	+	16	2311		c.e16+2		RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Splice_Site|MPRIP_ENST00000444976.1_Splice_Site|MPRIP_ENST00000395811.5_Splice_Site|RNU6-767P_ENST00000384132.1_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCATCTCAGGTTGGGGGGTGG	0.552													T|TT|T|insertion	1097	0.21905	0.3071	0.1542	5008	,	,		16246	0.2808		0.0626	False		,,,				2504	0.2434				.		Pindel,Atlas-Indel	.											.	MPRIP	87	.	0			c.2311+1T>-						PASS	.		,	1210,3054		169,872,1091	24	35	32		,	5.8	1	17	dbSNP_106	36	640,7614		35,570,3522	no	splice-5,splice-5	MPRIP	NM_201274.3,NM_015134.3	,	204,1442,4613	A1A1,A1R,RR		7.7538,28.3771,14.7787	,	,	17075181	1850,10668	2139	4282	6421	SO:0001630	splice_region_variant	23164	exon16			.	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2311+2T>-	17.37:g.17075181delT		Somatic	79	.	.		WXS	Illumina HiSeq	Phase_I	89	36	0.404	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Splice_Site	DEL	ENST00000341712.4	37	CCDS32578.1																																																																																			T|0.807;-|0.193	0.193	strong		0.552	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	Intron	-	17075181	T	-	17075181	8	5	22	1	0	1	0	1	0	0	1	0	9743	1739	60	0	2375	0	MPRIP	17	17075181	Splice_Site	DEL	T	TCGA-G8-6324-01A-11D-2210-10	45052	17075181	64120029	8651	13759										
PEMT	10400	hgsc.bcm.edu	37	chr17	17425631	17425631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcaggagcaggatggtgaCgcttagagagtagcaggcca	16	7	1	2	rs897453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17425631C>T	ENST00000395783.1	-	3	351	c.172G>A	c.(172-174)Gtc>Atc	p.V58I	PEMT_ENST00000395782.1_Missense_Mutation_p.V58I|PEMT_ENST00000435340.2_Missense_Mutation_p.V73I|PEMT_ENST00000395781.2_Missense_Mutation_p.V95I|PEMT_ENST00000255389.5_Missense_Mutation_p.V95I	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	58			V -> I (in dbSNP:rs897453). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.6}.|V -> L (in dbSNP:rs897453).		cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		AGGATGGTGACGCTTAGAGAG	0.602													C|||	996	0.198882	0.0635	0.2767	5008	,	,		18536	0.0952		0.4513	False		,,,				2504	0.1738				p.V95I		Atlas-SNP	.											.	PEMT	12	.	0			c.G283A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL	574,3832	253.4+/-259.3	51,472,1680	127	92	104		172,283,172	-5.1	0	17	dbSNP_86	104	3877,4723	542.3+/-384.2	852,2173,1275	yes	missense,missense,missense	PEMT	NM_007169.2,NM_148172.1,NM_148173.1	29,29,29	903,2645,2955	TT,TC,CC		45.0814,13.0277,34.2227	benign,benign,benign	58/200,95/237,58/200	17425631	4451,8555	2203	4300	6503	SO:0001583	missense	10400	exon3			TGGTGACGCTTAG	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.172G>A	17.37:g.17425631C>T	ENSP00000379129:p.Val58Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	124	62	0.5	NM_001267552	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	ENST00000395783.1	37	CCDS11187.1	539	0.2467948717948718	30	0.06097560975609756	115	0.31767955801104975	51	0.08916083916083917	343	0.4525065963060686	C	1.927	-0.446896	0.04572	0.130277	0.450814	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.25579	2.43;2.42;2.42;1.79;1.8	4.87	-5.06	0.02946	.	1.493750	0.04051	N	0.304729	T	0.00012	0.0000	N	0.11284	0.12	0.80722	P	0.0	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.45381	-0.9265	9	0.13853	T	0.58	-40.4928	4.3382	0.11097	0.2841:0.1905:0.0:0.5254	rs897453;rs1044987;rs3184799;rs3744119;rs17796661;rs17849340;rs56524175;rs897453	95;95;58	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	I	95;58;58;73;95;95	ENSP00000255389:V95I;ENSP00000379129:V58I;ENSP00000379128:V58I;ENSP00000391288:V73I;ENSP00000379127:V95I	ENSP00000255389:V95I	V	-	1	0	PEMT	17366356	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.039000	0.12124	-0.796000	0.04456	-0.254000	0.11334	GTC	T|0.286;G|0.001;C|0.713;N|0.000	0.286	strong		0.602	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		T	17425631	C	T	17425631	3	4	22	1	0	0	0	0	1	0	0	0	11726	536	19	1	447	1	PEMT	17	17425631	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	350450	17425631	63769579	8652	13760										
RAI1	10743	hgsc.bcm.edu	37	chr17	17696526	17696526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaaggccctgcccacacaGcaaggcctgcaggggaggcc	14	15	0	0	rs61999281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17696526G>A	ENST00000353383.1	+	3	733	c.264G>A	c.(262-264)caG>caA	p.Q88Q	RAI1_ENST00000261641.6_Silent_p.Q88Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	88					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCCACACAGCAAGGCCTGC	0.687													G|||	105	0.0209665	0.0749	0.0086	5008	,	,		12762	0.0		0.0	False		,,,				2504	0.0				p.Q88Q		Atlas-SNP	.											.	RAI1	121	.	0			c.G264A						PASS	.	G		283,4099		11,261,1919	12	14	14		264	1.9	0.7	17	dbSNP_129	14	1,8583		0,1,4291	no	coding-synonymous	RAI1	NM_030665.3		11,262,6210	AA,AG,GG		0.0116,6.4582,2.1903		88/1907	17696526	284,12682	2191	4292	6483	SO:0001819	synonymous_variant	10743	exon3			CACACAGCAAGGC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.264G>A	17.37:g.17696526G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	89	40	0.449438	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																			G|0.980;A|0.020	0.020	strong		0.687	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17696526	G	A	17696526	2	1	22	1	0	0	0	0	0	0	0	1	13007	962	34	2		2	RAI1	17	17696526	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	270895	17696526	63498684	8653	13761										
RAI1	10743	hgsc.bcm.edu	37	chr17	17700573	17700573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccggaggccctgcagccTggggggactgccctggcgcc	16	17	0	0	rs4925112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17700573T>C	ENST00000353383.1	+	3	4780	c.4311T>C	c.(4309-4311)ccT>ccC	p.P1437P	RAI1_ENST00000261641.6_Silent_p.P1437P	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1437					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCTGCAGCCTGGGGGGACTG	0.587													C|||	474	0.0946486	0.2655	0.0447	5008	,	,		16820	0.0069		0.0577	False		,,,				2504	0.0276				p.P1437P		Atlas-SNP	.											.	RAI1	121	.	0			c.T4311C						PASS	.	C		1089,3317	685.0+/-404.5	142,805,1256	30	35	33		4311	-1.9	0	17	dbSNP_111	33	518,8082	771.5+/-407.7	19,480,3801	no	coding-synonymous	RAI1	NM_030665.3		161,1285,5057	CC,CT,TT		6.0233,24.7163,12.3558		1437/1907	17700573	1607,11399	2203	4300	6503	SO:0001819	synonymous_variant	10743	exon3			GCAGCCTGGGGGG	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4311T>C	17.37:g.17700573T>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																			T|0.888;C|0.112	0.112	strong		0.587	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		C	17700573	T	C	17700573	2	2	22	1	0	0	0	0	0	0	0	1	13007	1567	55	3		3	RAI1	17	17700573	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4047	17700573	63494637	8654	13762										
RAI1	10743	hgsc.bcm.edu	37	chr17	17700792	17700792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcctggcctcccagccCccggagggcaggccctgcca	14	19	0	0	rs35686634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17700792C>T	ENST00000353383.1	+	3	4999	c.4530C>T	c.(4528-4530)ccC>ccT	p.P1510P	RAI1_ENST00000261641.6_Silent_p.P1510P	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1510					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCCCAGCCCCCGGAGGGCA	0.657													C|||	366	0.0730831	0.1906	0.0331	5008	,	,		13919	0.0069		0.0567	False		,,,				2504	0.0276				p.P1510P		Atlas-SNP	.											.	RAI1	121	.	0			c.C4530T						PASS	.	C		764,3640	272.5+/-270.8	67,630,1505	30	38	35		4530	0.6	0	17	dbSNP_126	35	510,8090	137.1+/-194.1	18,474,3808	no	coding-synonymous	RAI1	NM_030665.3		85,1104,5313	TT,TC,CC		5.9302,17.3479,9.797		1510/1907	17700792	1274,11730	2202	4300	6502	SO:0001819	synonymous_variant	10743	exon3			CCAGCCCCCGGAG	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4530C>T	17.37:g.17700792C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	123	49	0.398374	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																			C|0.916;T|0.084	0.084	strong		0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17700792	C	T	17700792	2	4	22	1	0	0	0	0	0	0	0	1	13007	610	22	2		2	RAI1	17	17700792	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	219	17700792	63494418	8655	13763										
TOM1L2	146691	hgsc.bcm.edu	37	chr17	17786042	17786042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgaattggctgtgatggGgccagtcacactcagagctg	13	9	3	3	rs146710625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17786042G>T	ENST00000379504.3	-	6	720	c.637C>A	c.(637-639)Ccc>Acc	p.P213T	TOM1L2_ENST00000581396.1_Missense_Mutation_p.P163T|TOM1L2_ENST00000535933.1_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P168T|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P168T|TOM1L2_ENST00000540946.1_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	213					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTGTGATGGGGCCAGTCACA	0.557																																					p.P213T	Melanoma(192;2505 2909 14455 25269)	Atlas-SNP	.											.	TOM1L2	54	.	0			c.C637A						PASS	.	G	THR/PRO,THR/PRO	11,4395	17.9+/-39.9	0,11,2192	96	89	91		487,637	4.7	1	17	dbSNP_134	91	0,8600		0,0,4300	yes	missense,missense	TOM1L2	NM_001033551.2,NM_001082968.1	38,38	0,11,6492	TT,TG,GG		0.0,0.2497,0.0846	benign,benign	163/458,213/508	17786042	11,12995	2203	4300	6503	SO:0001583	missense	146691	exon6			TGATGGGGCCAGT	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.637C>A	17.37:g.17786042G>T	ENSP00000368818:p.Pro213Thr	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_001082968	B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282146	0.80692	0.002497	0.0	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000537091	T;T	0.41065	1.01;1.01	5.7	4.73	0.59995	.	0.096186	0.85682	D	0.000000	T	0.56292	0.1975	M	0.79926	2.475	0.80722	D	1	B;P;B;B	0.50369	0.104;0.934;0.081;0.326	B;P;B;B	0.49361	0.059;0.608;0.067;0.142	T	0.61917	-0.6964	10	0.41790	T	0.15	-7.6658	16.772	0.85541	0.0:0.129:0.871:0.0	.	163;168;213;163	B7Z8F0;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;TM1L2_HUMAN;.	T	213;163;168;163	ENSP00000368818:P213T;ENSP00000379088:P168T	ENSP00000312860:P163T	P	-	1	0	TOM1L2	17726767	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.571000	0.67404	1.388000	0.46506	0.655000	0.94253	CCC	G|0.999;T|0.001	0.001	strong		0.557	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			T	17786042	G	T	17786042	3	4	22	1	0	0	0	0	1	0	0	0	16350	1232	43	4	926	4	TOM1L2	17	17786042	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85250	17786042	63409168	8656	13764										
ATPAF2	91647	hgsc.bcm.edu	37	chr17	17924447	17924447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcctcacctggtactccTcctccaggcgtgacagcagc	9	17	1	1	rs34607655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:17924447T>C	ENST00000474627.3	-	7	876	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	241					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CTGGTACTCCTCCTCCAGGCG	0.577													T|||	19	0.00379393	0.0136	0.0014	5008	,	,		20341	0.0		0.0	False		,,,				2504	0.0				p.E241G		Atlas-SNP	.											.	ATPAF2	15	.	0			c.A722G						PASS	.	T	GLY/GLU	39,4367	41.6+/-74.8	0,39,2164	43	35	38		722	5.7	1	17	dbSNP_126	38	0,8600		0,0,4300	yes	missense	ATPAF2	NM_145691.3	98	0,39,6464	CC,CT,TT		0.0,0.8852,0.2999	probably-damaging	241/290	17924447	39,12967	2203	4300	6503	SO:0001583	missense	91647	exon7			TACTCCTCCTCCA	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.722A>G	17.37:g.17924447T>C	ENSP00000417190:p.Glu241Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_145691	A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	CCDS32585.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	T	28.0	4.877445	0.91664	0.008852	0.0	ENSG00000171953	ENST00000474627	T	0.81330	-1.48	5.7	5.7	0.88788	ATPase assembly, ATP12, domain (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.88105	2.93	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	D	0.88744	0.3245	10	0.66056	D	0.02	-18.6937	15.9482	0.79809	0.0:0.0:0.0:1.0	rs34607655	241	Q8N5M1	ATPF2_HUMAN	G	241	ENSP00000417190:E241G	ENSP00000417190:E241G	E	-	2	0	ATPAF2	17865172	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.945000	0.87732	2.170000	0.68504	0.528000	0.53228	GAG	T|0.996;C|0.004	0.004	strong		0.577	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		C	17924447	T	C	17924447	3	2	22	1	0	0	0	0	1	0	0	0	1201	1551	54	3	155	3	ATPAF2	17	17924447	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	138405	17924447	63270763	8657	13765										
MYO15A	51168	hgsc.bcm.edu	37	chr17	18022385	18022385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagctcatgacgcagatgCgcatgggcaagaagaagcgg	14	9	1	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18022385C>A	ENST00000205890.5	+	2	609	c.271C>A	c.(271-273)Cgc>Agc	p.R91S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	91					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GACGCAGATGCGCATGGGCAA	0.662																																					p.R91S		Atlas-SNP	.											.	MYO15A	268	.	0			c.C271A						PASS	.						12	15	14					17																	18022385		1990	4132	6122	SO:0001583	missense	51168	exon2			CAGATGCGCATGG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.271C>A	17.37:g.18022385C>A	ENSP00000205890:p.Arg91Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	84	48	0.571429	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957666	0.53400	.	.	ENSG00000091536	ENST00000205890	D	0.91407	-2.84	5.05	2.82	0.32997	.	.	.	.	.	D	0.85961	0.5819	L	0.29908	0.895	0.80722	D	1	D	0.54207	0.965	P	0.46479	0.518	D	0.86392	0.1736	9	0.72032	D	0.01	.	10.2951	0.43618	0.2213:0.6572:0.1215:0.0	.	91	Q9UKN7	MYO15_HUMAN	S	91	ENSP00000205890:R91S	ENSP00000205890:R91S	R	+	1	0	MYO15A	17963110	0.968000	0.33430	0.999000	0.59377	0.455000	0.32408	0.304000	0.19228	2.333000	0.79357	0.561000	0.74099	CGC	.	.	none		0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18022385	C	A	18022385	3	1	22	1	0	0	0	0	1	0	0	0	10063	768	27	4	273	4	MYO15A	17	18022385	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97938	18022385	63172825	8658	13766										
MYO15A	51168	hgsc.bcm.edu	37	chr17	18025527	18025527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcaaccctgaagcctcAagtccagcccattcaggacc	8	17	2	1	rs76468019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18025527A>G	ENST00000205890.5	+	2	3751	c.3413A>G	c.(3412-3414)cAa>cGa	p.Q1138R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1138					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGAAGCCTCAAGTCCAGCCC	0.617													G|||	193	0.0385383	0.0575	0.0043	5008	,	,		17100	0.1042		0.001	False		,,,				2504	0.0082				p.Q1138R		Atlas-SNP	.											MYO15A,NS,carcinoma,+1,1	MYO15A	268	1	0			c.A3413G						PASS	.	G	ARG/GLN	173,3893		4,165,1864	48	56	53		3413	-3.5	0	17	dbSNP_131	53	8,8344		0,8,4168	yes	missense	MYO15A	NM_016239.3	43	4,173,6032	GG,GA,AA		0.0958,4.2548,1.4576	benign	1138/3531	18025527	181,12237	2033	4176	6209	SO:0001583	missense	51168	exon2			AGCCTCAAGTCCA	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3413A>G	17.37:g.18025527A>G	ENSP00000205890:p.Gln1138Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	113	52	0.460177	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	92	0.04212454212454213	20	0.04065040650406504	2	0.0055248618784530384	69	0.12062937062937062	1	0.0013192612137203166	N	0.922	-0.715649	0.03206	0.042548	9.58E-4	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.08	-3.48	0.04739	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	9	0.11485	T	0.65	.	0.5234	0.00616	0.1797:0.19:0.2801:0.3502	.	1138	Q9UKN7	MYO15_HUMAN	R	1138	ENSP00000205890:Q1138R	ENSP00000205890:Q1138R	Q	+	2	0	MYO15A	17966252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.278000	0.08490	-1.082000	0.03101	-5.891000	0.00000	CAA	A|0.957;G|0.043	0.043	strong		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18025527	A	G	18025527	3	3	22	1	0	0	0	0	1	0	0	0	10063	130	5	2	3415	2	MYO15A	17	18025527	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3142	18025527	63169683	8659	13767										
MYO15A	51168	hgsc.bcm.edu	37	chr17	18064730	18064730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcactcgcttcctccaagaCgtgagccggaccccaggcct	9	18	1	2	rs8077577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18064730C>T	ENST00000205890.5	+	57	9824	c.9486C>T	c.(9484-9486)gaC>gaT	p.D3162D	MYO15A_ENST00000451725.2_Silent_p.D54D|MYO15A_ENST00000418233.3_Silent_p.D426D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3162	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCTCCAAGACGTGAGCCGGA	0.632													C|||	789	0.157548	0.2231	0.1758	5008	,	,		18343	0.0149		0.2038	False		,,,				2504	0.1554				p.D3162D		Atlas-SNP	.											.	MYO15A	268	.	0			c.C9486T						PASS	.	C		873,3373		104,665,1354	75	80	78		9486	-5	0	17	dbSNP_116	78	1733,6747		173,1387,2680	no	coding-synonymous	MYO15A	NM_016239.3		277,2052,4034	TT,TC,CC		20.4363,20.5605,20.4778		3162/3531	18064730	2606,10120	2123	4240	6363	SO:0001819	synonymous_variant	51168	exon56			CCAAGACGTGAGC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9486C>T	17.37:g.18064730C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	84	49	0.583333	NM_016239	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																			C|0.806;T|0.194	0.194	strong		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18064730	C	T	18064730	2	4	22	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18064730	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39203	18064730	63130480	8660	13768										
ALKBH5	54890	hgsc.bcm.edu	37	chr17	18088094	18088094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccaaaagctggtggagcaCcgcgtcatccccgagggctt	12	13	1	0	rs11078411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18088094C>T	ENST00000399138.4	+	1	542	c.537C>T	c.(535-537)caC>caT	p.H179H	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	179					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TGGTGGAGCACCGCGTCATCC	0.667													C|||	899	0.179513	0.3011	0.1873	5008	,	,		16289	0.0119		0.2078	False		,,,				2504	0.1534				p.H179H	Ovarian(166;154 1953 40235 46283 46309)	Atlas-SNP	.											.	ALKBH5	24	.	0			c.C537T						PASS	.	C		1136,3026		162,812,1107	34	39	38		537	5	1	17	dbSNP_120	38	1748,6626		174,1400,2613	no	coding-synonymous	ALKBH5	NM_017758.3		336,2212,3720	TT,TC,CC		20.8741,27.2946,23.0057		179/395	18088094	2884,9652	2081	4187	6268	SO:0001819	synonymous_variant	54890	exon1			GGAGCACCGCGTC	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.537C>T	17.37:g.18088094C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_017758	B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	ENST00000399138.4	37	CCDS42272.1																																																																																			C|0.787;T|0.213	0.213	strong		0.667	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		T	18088094	C	T	18088094	2	4	22	1	0	0	0	0	0	0	0	1	530	506	18	2		2	ALKBH5	17	18088094	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23364	18088094	63107116	8661	13769										
FLII	2314	hgsc.bcm.edu	37	chr17	18148944	18148944	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcggagcatttctcagtCactgcaaagtagcccttctc	8	12	3	0	rs113208618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18148944C>G	ENST00000327031.4	-	28	3759	c.3534G>C	c.(3532-3534)gtG>gtC	p.V1178V	FLII_ENST00000379450.4_Silent_p.V1092V|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Silent_p.V1167V|FLII_ENST00000545457.2_Silent_p.V1123V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1178					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ATTTCTCAGTCACTGCAAAGT	0.542													C|||	209	0.0417332	0.1301	0.0259	5008	,	,		22593	0.0079		0.004	False		,,,				2504	0.0072				p.V1178V		Atlas-SNP	.											.	FLII	79	.	0			c.G3534C						PASS	.	C		455,3951	217.1+/-235.6	31,393,1779	221	195	204		3534	3.4	1	17	dbSNP_132	204	46,8554	30.1+/-81.4	0,46,4254	no	coding-synonymous	FLII	NM_002018.2		31,439,6033	GG,GC,CC		0.5349,10.3268,3.8521		1178/1270	18148944	501,12505	2203	4300	6503	SO:0001819	synonymous_variant	2314	exon28			CTCAGTCACTGCA	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3534G>C	17.37:g.18148944C>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	92	42	0.456522	NM_002018	B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																			C|0.964;G|0.036	0.036	strong		0.542	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		G	18148944	C	G	18148944	2	3	22	1	0	0	0	0	0	0	0	1	5925	813	29	4		4	FLII	17	18148944	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60850	18148944	63046266	8662	13770										
TOP3A	7156	hgsc.bcm.edu	37	chr17	18217958	18217958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcggcgatccccttggcCgcgtcgtttttttcggccac	12	14	0	0	rs2230153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18217958C>T	ENST00000321105.5	-	1	349	c.135G>A	c.(133-135)gcG>gcA	p.A45A	SMCR8_ENST00000406438.3_5'Flank|TOP3A_ENST00000582230.1_5'UTR|TOP3A_ENST00000542570.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	45	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCCCCTTGGCCGCGTCGTTTT	0.657													C|||	231	0.0461262	0.1596	0.0259	5008	,	,		17522	0.0		0.002	False		,,,				2504	0.0				p.A45A		Atlas-SNP	.											.	TOP3A	85	.	0			c.G135A						PASS	.	C		552,3854	248.1+/-256.1	40,472,1691	55	43	47		135	1	1	17	dbSNP_116	47	48,8552	29.6+/-80.5	0,48,4252	no	coding-synonymous	TOP3A	NM_004618.3		40,520,5943	TT,TC,CC		0.5581,12.5284,4.6133		45/1002	18217958	600,12406	2203	4300	6503	SO:0001819	synonymous_variant	7156	exon1			CTTGGCCGCGTCG	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.135G>A	17.37:g.18217958C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	175	89	0.508571	NM_004618	A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	CCDS11194.1	90	0.04120879120879121	78	0.15853658536585366	11	0.03038674033149171	0	0.0	1	0.0013192612137203166	C	14.01	2.407166	0.42715	0.125284	0.005581	ENSG00000177302	ENST00000412083	.	.	.	5.44	1.01	0.19927	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	0.9999999999999994	.	.	.	.	.	.	T	0.11012	-1.0605	3	.	.	.	-26.1119	6.8195	0.23849	0.4676:0.3924:0.0:0.14	rs7212337	.	.	.	S	25	.	.	G	-	1	0	TOP3A	18158683	0.002000	0.14202	1.000000	0.80357	0.984000	0.73092	-1.659000	0.01975	0.367000	0.24454	0.655000	0.94253	GGC	C|0.948;T|0.052	0.052	strong		0.657	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			T	18217958	C	T	18217958	2	4	22	1	0	0	0	0	0	0	0	1	16364	639	23	1		1	TOP3A	17	18217958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69014	18217958	62977252	8663	13771										
EVPLL	645027	hgsc.bcm.edu	37	chr17	18284263	18284263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcccacatgcaagccagCgccgaccaggtggagcggga	13	14	1	0	rs116412205|rs386795970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18284263C>T	ENST00000399134.4	+	2	370	c.12C>T	c.(10-12)agC>agT	p.S4S	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	4			S -> N (in dbSNP:rs570145). {ECO:0000269|PubMed:14702039}.							NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGCAAGCCAGCGCCGACCAGG	0.657													.|||	71	0.0141773	0.0507	0.0058	5008	,	,		17727	0.0		0.0	False		,,,				2504	0.0				p.S4S		Atlas-SNP	.											.	EVPLL	10	.	0			c.C12T						PASS	.	C		32,1352		3,26,663	99	101	100		12	-0.7	1	17	dbSNP_132	100	0,3182		0,0,1591	no	coding-synonymous	EVPLL	NM_001145127.1		3,26,2254	TT,TC,CC		0.0,2.3121,0.7008		4/302	18284263	32,4534	692	1591	2283	SO:0001819	synonymous_variant	645027	exon2			AGCCAGCGCCGAC		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.12C>T	17.37:g.18284263C>T		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	242	100	0.413223	NM_001145127	B4DPD4	Silent	SNP	ENST00000399134.4	37	CCDS45626.1																																																																																			C|0.993;T|0.007	0.007	strong		0.657	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		T	18284263	C	T	18284263	2	4	22	1	0	0	0	0	0	0	0	1	5293	767	27	1		1	EVPLL	17	18284263	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66305	18284263	62910947	8664	13772										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18565915	18565915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggttttcttacattcacGgcattcaaagagaattctag	8	7	4	1	rs73291461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18565915G>A	ENST00000545289.1	-	5	1154	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	302					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(1)|lung(1)	2						TTACATTCACGGCATTCAAAG	0.398													.|||	424	0.0846645	0.3071	0.0202	5008	,	,		21283	0.0		0.002	False		,,,				2504	0.002				p.R302C		Atlas-SNP	.											.	ZNF286B	75	.	0			c.C904T						PASS	.	T	CYS/ARG	317,1067		31,255,406	74	66	69		904	0.1	0.9	17	dbSNP_130	69	13,3169		0,13,1578	no	missense	ZNF286B	NM_001145045.1	180	31,268,1984	AA,AG,GG		0.4085,22.9046,7.2273	benign	302/523	18565915	330,4236	692	1591	2283	SO:0001583	missense	729288	exon5			ATTCACGGCATTC		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.904C>T	17.37:g.18565915G>A	ENSP00000461413:p.Arg302Cys	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	299	130	0.434783	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			G|0.943;A|0.057	0.057	strong		0.398	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		A	18565915	G	A	18565915	3	1	22	1	0	0	0	0	1	0	0	0	17821	1116	39	1	668	1	ZNF286B	17	18565915	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	281652	18565915	62629295	8665	13773										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18566386	18566386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtcatagacactattccGtgtcagtctgtctattattg	8	8	4	2	rs143643706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18566386G>A	ENST00000545289.1	-	5	683	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	145					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(1)|lung(1)	2						ACACTATTCCGTGTCAGTCTG	0.408													.|||	424	0.0846645	0.3071	0.0202	5008	,	,		22256	0.0		0.002	False		,,,				2504	0.002				p.R145W		Atlas-SNP	.											.	ZNF286B	75	.	0			c.C433T						PASS	.	G	TRP/ARG	315,1069		31,253,408	111	99	102		433	-3.4	0	17	dbSNP_134	102	11,3169		0,11,1579	no	missense	ZNF286B	NM_001145045.1	101	31,264,1987	AA,AG,GG		0.3459,22.7601,7.1429	probably-damaging	145/523	18566386	326,4238	692	1590	2282	SO:0001583	missense	729288	exon5			TATTCCGTGTCAG		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.433C>T	17.37:g.18566386G>A	ENSP00000461413:p.Arg145Trp	Somatic	390	0	0		WXS	Illumina HiSeq	Phase_I	353	137	0.388102	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			G|0.945;A|0.055	0.055	strong		0.408	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		A	18566386	G	A	18566386	3	1	22	1	0	0	0	0	1	0	0	0	17821	1144	40	1	1139	1	ZNF286B	17	18566386	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	471	18566386	62628824	8666	13774										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18566422	18566422	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattgcaactttgcatgattCtgctttggaaaaatcttgca	7	7	2	1	rs146829975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18566422C>T	ENST00000545289.1	-	5	647	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	133					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(1)|lung(1)	2						TTGCATGATTCTGCTTTGGAA	0.408													.|||	165	0.0329473	0.118	0.0115	5008	,	,		22416	0.0		0.001	False		,,,				2504	0.0				p.E133K		Atlas-SNP	.											.	ZNF286B	75	.	0			c.G397A						PASS	.	C	LYS/GLU	110,1274		4,102,586	90	80	83		397	1.6	1	17	dbSNP_134	83	1,3179		0,1,1589	no	missense	ZNF286B	NM_001145045.1	56	4,103,2175	TT,TC,CC		0.0314,7.948,2.4321	benign	133/523	18566422	111,4453	692	1590	2282	SO:0001583	missense	729288	exon5			ATGATTCTGCTTT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.397G>A	17.37:g.18566422C>T	ENSP00000461413:p.Glu133Lys	Somatic	416	0	0		WXS	Illumina HiSeq	Phase_I	381	149	0.391076	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			C|0.975;T|0.025	0.025	strong		0.408	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		T	18566422	C	T	18566422	3	4	22	1	0	0	0	0	1	0	0	0	17821	922	32	2	1175	2	ZNF286B	17	18566422	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	18566422	62628788	8667	13775										
TRIM16L	147166	hgsc.bcm.edu	37	chr17	18634541	18634541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaagctccaggagttttcCaaggaaggtgagacacattc	10	8	0	1	rs8073459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18634541C>T	ENST00000449552.2	+	5	1844	c.360C>T	c.(358-360)tcC>tcT	p.S120S	TRIM16L_ENST00000395671.4_Silent_p.S120S|TRIM16L_ENST00000572555.1_Silent_p.S120S|TRIM16L_ENST00000395672.2_Silent_p.S120S|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000571708.1_Silent_p.S120S|TRIM16L_ENST00000395902.3_Silent_p.S174S			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	120						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AGGAGTTTTCCAAGGAAGGTG	0.458													.|||	360	0.071885	0.0961	0.049	5008	,	,		16707	0.003		0.0815	False		,,,				2504	0.1166				p.S120S		Atlas-SNP	.											.	TRIM16L	15	.	0			c.C360T						PASS	.	C		422,3982	206.2+/-227.9	19,384,1799	110	104	106		360	3.3	0.9	17	dbSNP_116	106	708,7892	174.5+/-224.7	28,652,3620	no	coding-synonymous	TRIM16L	NM_001037330.1		47,1036,5419	TT,TC,CC		8.2326,9.5822,8.6896		120/349	18634541	1130,11874	2202	4300	6502	SO:0001819	synonymous_variant	147166	exon3			GTTTTCCAAGGAA	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.360C>T	17.37:g.18634541C>T		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	235	110	0.468085	NM_001037330	A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	CCDS32588.1																																																																																			C|0.920;T|0.080	0.080	strong		0.458	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		T	18634541	C	T	18634541	2	4	22	1	0	0	0	0	0	0	0	1	16489	581	21	2		2	TRIM16L	17	18634541	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68119	18634541	62560669	8668	13776										
FBXW10	10517	hgsc.bcm.edu	37	chr17	18681913	18681913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattcctcctgactgttagcGccctgcagcacgcccataat	7	15	0	1	rs77288131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18681913G>A	ENST00000395665.4	+	14	2682	c.2461G>A	c.(2461-2463)Gcc>Acc	p.A821T	FBXW10_ENST00000308799.4_Missense_Mutation_p.A830T|FBXW10_ENST00000395667.1_Missense_Mutation_p.A820T|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.A768T|TVP23B_ENST00000307767.8_5'Flank|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	821			A -> T (in dbSNP:rs1026259). {ECO:0000269|PubMed:11230166}.							NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GACTGTTAGCGCCCTGCAGCA	0.478													N|||	437	0.0872604	0.1263	0.0648	5008	,	,		16718	0.0635		0.0805	False		,,,				2504	0.0818				p.A821T		Atlas-SNP	.											.	FBXW10	82	.	0			c.G2461A						PASS	.	G	THR/ALA	480,3924	218.4+/-236.5	20,440,1742	43	45	44		2458	2.8	0.6	17	dbSNP_131	44	639,7957	162.2+/-214.9	20,599,3679	no	missense	FBXW10	NM_031456.3	58	40,1039,5421	AA,AG,GG		7.4337,10.8992,8.6077	benign	820/1052	18681913	1119,11881	2202	4298	6500	SO:0001583	missense	10517	exon14			GTTAGCGCCCTGC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2461G>A	17.37:g.18681913G>A	ENSP00000379025:p.Ala821Thr	Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	308	157	0.50974	NM_001267585	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	197	0.0902014652014652	72	0.14634146341463414	28	0.07734806629834254	37	0.06468531468531469	60	0.079155672823219	G	3.176	-0.168987	0.06461	0.108992	0.074337	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.62105	0.05;0.29;0.09;0.16	3.88	2.81	0.32909	.	0.000000	0.35378	U	0.003241	T	0.00328	0.0010	L	0.38175	1.15	0.39205	P	0.03678199999999998	B;B;B;B	0.21821	0.025;0.056;0.008;0.061	B;B;B;B	0.17433	0.007;0.018;0.002;0.007	T	0.09773	-1.0659	9	0.33940	T	0.23	.	10.2526	0.43377	0.0:0.0:0.789:0.2109	.	768;830;821;820	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	T	820;830;768;821	ENSP00000379026:A820T;ENSP00000310382:A830T;ENSP00000306937:A768T;ENSP00000379025:A821T	ENSP00000306937:A768T	A	+	1	0	FBXW10	18622638	0.007000	0.16637	0.617000	0.29091	0.211000	0.24417	0.897000	0.28390	1.963000	0.57068	0.404000	0.27445	GCC	G|0.912;A|0.088	0.088	strong		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		A	18681913	G	A	18681913	3	1	22	1	0	0	0	0	1	0	0	0	5763	1087	38	1	2512	1	FBXW10	17	18681913	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47372	18681913	62513297	8669	13777										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18874685	18874686	+	In_Frame_Ins	INS	-	-	GGT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgctaggggtctttgcINSggtcccggggggcttgagcc					rs3071666|rs75294421|rs538676818|rs36060906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18874685_18874686insGGT	ENST00000388995.6	-	6	2681_2682	c.2458_2459insACC	c.(2458-2460)cgc>cACCgc	p.819_820insH	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_In_Frame_Ins_p.819_820insH|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_In_Frame_Ins_p.819_820insH			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	819					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGGGTCTTTGCGGTCCCGGGGG	0.634														3264	0.651757	0.674	0.6801	5008	,	,		17224	0.6349		0.5865	False		,,,				2504	0.6861				p.R820delinsHR		Pindel,Atlas-Indel	.											.	FAM83G	51	.	0			c.2459_2460insACC						PASS	.		,,	2729,1459		927,875,292					,,	-11.1	0		dbSNP_102	49	4619,3535		1344,1931,802	no	intron,intron,coding	SLC5A10,FAM83G	NM_152351.3,NM_001042450.1,NM_001039999.2	,,	2271,2806,1094	A1A1,A1R,RR		43.353,34.8376,40.4635	,,	,,		7348,4994				SO:0001652	inframe_insertion	644815	exon6			.	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2456_2458dupACC	17.37:g.18874686_18874688dupGGT	ENSP00000373647:p.Asp819_Arg820insHis	Somatic	74	.	.		WXS	Illumina HiSeq	Phase_I	47	33	0.702	NM_001039999	Q3KQZ4|Q6ZW60	In_Frame_Ins	INS	ENST00000388995.6	37	CCDS42276.1																																																																																			-|0.250;GGT|0.750	0.750	strong		0.634	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			GGT	18874686	-	GGT	18874685	7	5	22	1	0	1	1	0	0	0	0	0	5639	768	27	0	16	0	FAM83G	17	18874685	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	192772	18874685	62320525	8670	13778										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18874720	18874720	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagccctccgtttagaatcCgatgaggcccactggctacc	10	14	0	3	rs916823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18874720C>G	ENST00000388995.6	-	6	2647	c.2424G>C	c.(2422-2424)tcG>tcC	p.S808S	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S808S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Silent_p.S808S|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	808					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GTTTAGAATCCGATGAGGCCC	0.617													G|||	3377	0.674321	0.7587	0.6844	5008	,	,		17660	0.6329		0.5855	False		,,,				2504	0.6871				p.S808S		Atlas-SNP	.											.	FAM83G	51	.	0			c.G2424C						PASS	.	G	,,	3108,1144		1159,790,177	54	66	62		2424,,	-11.1	0	17	dbSNP_86	62	4850,3600		1419,2012,794	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	2578,2802,971	GG,GC,CC		42.6036,26.905,37.3484	,,	808/824,,	18874720	7958,4744	2126	4225	6351	SO:0001819	synonymous_variant	644815	exon6			AGAATCCGATGAG	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2424G>C	17.37:g.18874720C>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_001039999	Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	CCDS42276.1																																																																																			C|0.359;G|0.641	0.641	strong		0.617	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			G	18874720	C	G	18874720	2	3	22	1	0	0	0	0	0	0	0	1	5639	639	23	4		4	FAM83G	17	18874720	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35	18874720	62320490	8671	13779										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18881225	18881225	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgagggttacgtagtcgTcatcatcttcttcttccacc	7	13	5	1	rs200348726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18881225T>A	ENST00000388995.6	-	5	1977	c.1754A>T	c.(1753-1755)gAc>gTc	p.D585V	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D585V|FAM83G_ENST00000345041.4_Missense_Mutation_p.D585V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	585	Poly-Asp.				BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TACGTAGTCGTCATCATCTTC	0.652													T|||	4	0.000798722	0.003	0.0	5008	,	,		16212	0.0		0.0	False		,,,				2504	0.0				p.D585V		Atlas-SNP	.											.	FAM83G	51	.	0			c.A1754T						PASS	.	T	VAL/ASP,,	12,4022		0,12,2005	45	52	50		1754,,	5.9	0.5	17		50	0,8316		0,0,4158	yes	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	152,,	0,12,6163	AA,AT,TT		0.0,0.2975,0.0972	probably-damaging,,	585/824,,	18881225	12,12338	2017	4158	6175	SO:0001583	missense	644815	exon5			TAGTCGTCATCAT	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1754A>T	17.37:g.18881225T>A	ENSP00000373647:p.Asp585Val	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	59	35	0.59322	NM_001039999	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	20.7	4.038233	0.75617	0.002975	0.0	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15139	2.45;2.45	5.91	5.91	0.95273	.	0.446831	0.22573	N	0.058301	T	0.41119	0.1145	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.20974	-1.0259	10	0.87932	D	0	-28.3264	16.0171	0.80450	0.0:0.0:0.0:1.0	.	585	A6ND36	FA83G_HUMAN	V	585	ENSP00000373647:D585V;ENSP00000343279:D585V	ENSP00000343279:D585V	D	-	2	0	FAM83G	18821950	0.972000	0.33761	0.512000	0.27736	0.887000	0.51463	2.926000	0.48892	2.269000	0.75478	0.533000	0.62120	GAC	T|1.000;A|0.000	0.000	strong		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18881225	T	A	18881225	3	1	22	1	0	0	0	0	1	0	0	0	5639	1667	58	5	725	5	FAM83G	17	18881225	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6505	18881225	62313985	8672	13780										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18907029	18907029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcagcggctcggcctcgAtggggaccccatccgccccg	15	17	0	0	rs2074283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18907029A>G	ENST00000388995.6	-	2	549	c.326T>C	c.(325-327)aTc>aCc	p.I109T	FAM83G_ENST00000585154.2_Missense_Mutation_p.I109T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.I109T			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	109			I -> T (in dbSNP:rs2074283).		BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCGGCCTCGATGGGGACCCC	0.736													G|||	1417	0.282947	0.3797	0.1297	5008	,	,		12145	0.3998		0.0298	False		,,,				2504	0.4008				p.I109T		Atlas-SNP	.											.	FAM83G	51	.	0			c.T326C						PASS	.	G	THR/ILE,,	1168,2718		184,800,959	10	13	12		326,,	1.4	0	17	dbSNP_96	12	215,8003		2,211,3896	no	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	89,,	186,1011,4855	GG,GA,AA		2.6162,30.0566,11.426	benign,,	109/824,,	18907029	1383,10721	1943	4109	6052	SO:0001583	missense	644815	exon2			GCCTCGATGGGGA	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.326T>C	17.37:g.18907029A>G	ENSP00000373647:p.Ile109Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	49	20	0.408163	NM_001039999	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	467	0.21382783882783882	178	0.3617886178861789	51	0.1408839779005525	218	0.3811188811188811	20	0.026385224274406333	G	6.063	0.379857	0.11466	0.300566	0.026162	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.10668	2.85;2.85	4.8	1.39	0.22231	.	1.609950	0.03601	N	0.233476	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47169	-0.9138	9	0.13470	T	0.59	-0.9574	2.3661	0.04319	0.0981:0.1653:0.3978:0.3389	rs2074283;rs58892823;rs2074283	109	A6ND36	FA83G_HUMAN	T	109	ENSP00000373647:I109T;ENSP00000343279:I109T	ENSP00000343279:I109T	I	-	2	0	FAM83G	18847754	0.012000	0.17670	0.001000	0.08648	0.426000	0.31534	0.082000	0.14847	0.093000	0.17368	-0.320000	0.08662	ATC	A|0.778;G|0.222	0.222	strong		0.736	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			G	18907029	A	G	18907029	3	3	22	1	0	0	0	0	1	0	0	0	5639	333	12	2	2165	2	FAM83G	17	18907029	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25804	18907029	62288181	8673	13781										
SLC5A10	125206	hgsc.bcm.edu	37	chr17	18918396	18918396	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatcgcagtgatgctggcGgcgctcatgtcgtcgctgac	14	11	1	3	rs2074279	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:18918396G>C	ENST00000395645.3	+	11	1143	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	SLC5A10_ENST00000417251.2_Silent_p.A339A|SLC5A10_ENST00000395643.2_Silent_p.A348A|SLC5A10_ENST00000395647.2_Silent_p.A391A|SLC5A10_ENST00000395642.1_Silent_p.A308A|SLC5A10_ENST00000317977.6_Silent_p.A308A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGATGCTGGCGGCGCTCATGT	0.677													C|||	997	0.199081	0.3336	0.0663	5008	,	,		12776	0.3413		0.0288	False		,,,				2504	0.1401				p.A391A		Atlas-SNP	.											.	SLC5A10	55	.	0			c.G1173C						PASS	.	C	,	1209,3197	706.8+/-407.4	151,907,1145	60	49	53		1125,1173	-4.3	0.8	17	dbSNP_96	53	187,8413	810.1+/-407.1	2,183,4115	no	coding-synonymous,coding-synonymous	SLC5A10	NM_001042450.1,NM_152351.3	,	153,1090,5260	CC,CG,GG		2.1744,27.4399,10.7335	,	375/597,391/613	18918396	1396,11610	2203	4300	6503	SO:0001819	synonymous_variant	125206	exon11			GCTGGCGGCGCTC		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1125G>C	17.37:g.18918396G>C		Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	348	172	0.494253	NM_152351	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																			G|0.872;C|0.128	0.128	strong		0.677	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		C	18918396	G	C	18918396	2	2	22	1	0	0	0	0	0	0	0	1	14662	1103	39	4		4	SLC5A10	17	18918396	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11367	18918396	62276814	8674	13782										
B9D1	27077	hgsc.bcm.edu	37	chr17	19246667	19246667	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggtgggctgggccccaAcacaccctgtgtatcagaag	14	12	1	1	rs7212549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19246667A>G	ENST00000261499.4	-	7	723	c.580T>C	c.(580-582)Ttg>Ctg	p.L194L	B9D1_ENST00000477478.2_3'UTR|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000461069.2_Intron|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395615.1_3'UTR	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	194					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTGGGCCCCAACACACCCTGT	0.587													A|||	153	0.0305511	0.0514	0.0029	5008	,	,		18629	0.0079		0.0	False		,,,				2504	0.0767				p.L194L		Atlas-SNP	.											.	B9D1	8	.	0			c.T580C						PASS	.	A		172,4234	113.8+/-151.8	1,170,2032	75	68	70		580	-2.2	0	17	dbSNP_116	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B9D1	NM_015681.3		1,171,6331	GG,GA,AA		0.0116,3.9038,1.3302		194/205	19246667	173,12833	2203	4300	6503	SO:0001819	synonymous_variant	27077	exon7			GCCCCAACACACC	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"endothelial precursor protein B9"	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.580T>C	17.37:g.19246667A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_015681	Q9BU22	Silent	SNP	ENST00000261499.4	37	CCDS11205.1																																																																																			A|0.980;G|0.020	0.020	strong		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		G	19246667	A	G	19246667	2	3	22	1	0	0	0	0	0	0	0	1	1277	40	2	2		2	B9D1	17	19246667	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	328271	19246667	61948543	8675	13783										
MAPK7	5598	hgsc.bcm.edu	37	chr17	19285392	19285392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccggcccctgccccagcGccaacgccaaccccaacccc	8	24	0	0	rs2233079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19285392G>A	ENST00000308406.5	+	5	2162	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.A592A|MAPK7_ENST00000299612.7_Silent_p.A453A|MAPK7_ENST00000395604.3_Silent_p.A592A|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	592	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ctgccccagcgccaacgccaa	0.657													G|||	165	0.0329473	0.118	0.013	5008	,	,		9722	0.0		0.0	False		,,,				2504	0.0				p.A592A		Atlas-SNP	.											.	MAPK7	72	.	0			c.G1776A						PASS	.	G	,,,	433,3955		29,375,1790	14	13	13		1776,1359,1776,1776	-8.4	0	17	dbSNP_98	13	9,8573		0,9,4282	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPK7	NM_002749.3,NM_139032.2,NM_139033.2,NM_139034.2	,,,	29,384,6072	AA,AG,GG		0.1049,9.8678,3.4079	,,,	592/817,453/678,592/817,592/817	19285392	442,12528	2194	4291	6485	SO:0001819	synonymous_variant	5598	exon5			CCCAGCGCCAACG	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1776G>A	17.37:g.19285392G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	200	114	0.57	NM_002749	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																			G|0.959;A|0.041	0.041	strong		0.657	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		A	19285392	G	A	19285392	2	1	22	1	0	0	0	0	0	0	0	1	9282	1074	38	1		1	MAPK7	17	19285392	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38725	19285392	61909818	8676	13784										
RNF112	7732	hgsc.bcm.edu	37	chr17	19319374	19319374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggggccacaggggccgcTgtggttgggggtggcgtggg	25	7	0	0	rs76138388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19319374T>C	ENST00000461366.1	+	14	1997	c.1782T>C	c.(1780-1782)gcT>gcC	p.A594A	CTB-187M2.2_ENST00000579897.1_RNA|AC004448.2_ENST00000437646.1_lincRNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	594						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGGGGCCGCTGTGGTTGGGG	0.687													.|||	1150	0.229633	0.4228	0.085	5008	,	,		10555	0.2847		0.008	False		,,,				2504	0.2423				p.A594A		Atlas-SNP	.											RNF112,NS,haematopoietic_neoplasm,0,1	RNF112	37	1	0			c.T1782C						PASS	.	C		811,2571		72,667,952	3	4	4		1782	-7.5	0	17	dbSNP_132	4	89,7169		1,87,3541	no	coding-synonymous	RNF112	NM_007148.4		73,754,4493	CC,CT,TT		1.2262,23.9799,8.4586		594/632	19319374	900,9740	1691	3629	5320	SO:0001819	synonymous_variant	7732	exon14			GGCCGCTGTGGTT	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1782T>C	17.37:g.19319374T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	76	34	0.447368	NM_007148	O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																			T|0.829;C|0.171	0.171	strong		0.687	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		C	19319374	T	C	19319374	2	2	22	1	0	0	0	0	0	0	0	1	13426	1567	55	3		3	RNF112	17	19319374	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33982	19319374	61875836	8677	13785										
ALDH3A2	224	hgsc.bcm.edu	37	chr17	19559770	19559770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctatacgggaaacactgCggttggcaaaattgtcatgg	11	7	2	0	rs115977487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19559770C>T	ENST00000176643.6	+	4	1009	c.563C>T	c.(562-564)gCg>gTg	p.A188V	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.A188V|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.A188V|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.A188V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.A188V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	188					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GGAAACACTGCGGTTGGCAAA	0.438													C|||	67	0.0133786	0.0499	0.0014	5008	,	,		21110	0.0		0.0	False		,,,				2504	0.0				p.A188V		Atlas-SNP	.											.	ALDH3A2	41	.	0			c.C563T						PASS	.	C	VAL/ALA,VAL/ALA	141,4265	101.2+/-139.8	3,135,2065	115	108	111		563,563	1.2	0	17	dbSNP_132	111	0,8600		0,0,4300	yes	missense,missense	ALDH3A2	NM_000382.2,NM_001031806.1	64,64	3,135,6365	TT,TC,CC		0.0,3.2002,1.0841	benign,benign	188/486,188/509	19559770	141,12865	2203	4300	6503	SO:0001583	missense	224	exon4			ACACTGCGGTTGG	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.563C>T	17.37:g.19559770C>T	ENSP00000176643:p.Ala188Val	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	265	135	0.509434	NM_001031806	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	C	5.442	0.266672	0.10294	0.032002	0.0	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.85484	-1.99;-1.99;-1.99	5.71	1.24	0.21308	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.860604	0.10663	N	0.648524	T	0.40791	0.1131	M	0.68317	2.08	0.09310	N	1	P;P	0.44044	0.825;0.79	B;B	0.34873	0.191;0.12	T	0.53878	-0.8376	10	0.31617	T	0.26	-0.0192	4.0327	0.09716	0.1051:0.5293:0.2073:0.1584	.	188;188	P51648;P51648-2	AL3A2_HUMAN;.	V	188	ENSP00000176643:A188V;ENSP00000378942:A188V;ENSP00000345774:A188V	ENSP00000176643:A188V	A	+	2	0	ALDH3A2	19500362	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.212000	0.17497	0.336000	0.23639	0.467000	0.42956	GCG	C|0.990;T|0.010	0.010	strong		0.438	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			T	19559770	C	T	19559770	3	4	22	1	0	0	0	0	1	0	0	0	498	768	27	1	577	1	ALDH3A2	17	19559770	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	240396	19559770	61635440	8678	13786										
ALDH3A2	224	hgsc.bcm.edu	37	chr17	19578873	19578873	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttttcctctctccaggcAgaatattactgaagaatgat	6	9	1	4	rs7216	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19578873A>T	ENST00000176643.6	+	10	1892	c.1446A>T	c.(1444-1446)gcA>gcT	p.A482A	ALDH3A2_ENST00000571163.1_Nonsense_Mutation_p.R77*|ALDH3A2_ENST00000395575.2_Silent_p.A482A|SLC47A2_ENST00000463318.1_5'Flank|ALDH3A2_ENST00000581518.1_Splice_Site|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000579855.1_Silent_p.A482A			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	482					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					CTCTCCAGGCAGAATATTACT	0.398													T|||	3398	0.678514	0.5045	0.6715	5008	,	,		19666	0.9861		0.5616	False		,,,				2504	0.7219				p.A482A		Atlas-SNP	.											.	ALDH3A2	41	.	0			c.A1446T						PASS	.	T	,	2348,2058	569.2+/-382.6	618,1112,473	199	191	194		1446,	1.6	0.2	17	dbSNP_52	194	4814,3786	535.3+/-382.8	1329,2156,815	no	coding-synonymous,utr-3	ALDH3A2	NM_000382.2,NM_001031806.1	,	1947,3268,1288	TT,TA,AA		44.0233,46.709,44.9331	,	482/486,	19578873	7162,5844	2203	4300	6503	SO:0001819	synonymous_variant	224	exon10			CCAGGCAGAATAT	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1446A>T	17.37:g.19578873A>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	137	62	0.452555	NM_000382	Q6I9T3|Q93011|Q96J37	Silent	SNP	ENST00000176643.6	37	CCDS11210.1																																																																																			A|0.406;T|0.594	0.594	strong		0.398	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			T	19578873	A	T	19578873	2	4	22	1	0	0	0	0	0	0	0	1	498	175	7	5		5	ALDH3A2	17	19578873	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19103	19578873	61616337	8679	13787										
SLC47A2	146802	hgsc.bcm.edu	37	chr17	19607432	19607432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcttggcctgcacagtatcCgcagcccccagagccatccc	9	19	0	1	rs34169093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19607432C>T	ENST00000325411.5	-	11	1127	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	SLC47A2_ENST00000350657.5_Silent_p.A337A|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	359					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GCACAGTATCCGCAGCCCCCA	0.617													C|||	311	0.0621006	0.1831	0.0187	5008	,	,		18054	0.0		0.0268	False		,,,				2504	0.0297				p.A359A		Atlas-SNP	.											.	SLC47A2	61	.	0			c.G1077A						PASS	.	C	,	663,3743	278.7+/-274.4	51,561,1591	50	49	50		969,1077	-0.3	0	17	dbSNP_126	50	237,8363	94.7+/-156.6	2,233,4065	no	coding-synonymous,coding-synonymous	SLC47A2	NM_001099646.1,NM_152908.3	,	53,794,5656	TT,TC,CC		2.7558,15.0477,6.9199	,	323/567,359/603	19607432	900,12106	2203	4300	6503	SO:0001819	synonymous_variant	146802	exon11			AGTATCCGCAGCC	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1077G>A	17.37:g.19607432C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	39	20	0.512821	NM_152908	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	CCDS11211.1																																																																																			C|0.935;T|0.065	0.065	strong		0.617	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		T	19607432	C	T	19607432	2	4	22	1	0	0	0	0	0	0	0	1	14648	639	23	1		1	SLC47A2	17	19607432	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28559	19607432	61587778	8680	13788										
SLC47A2	146802	hgsc.bcm.edu	37	chr17	19608773	19608773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggtcacagtggccacctcGtagatgacagcctgggcaga	13	11	1	3	rs4925042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19608773G>A	ENST00000325411.5	-	10	1043	c.993C>T	c.(991-993)taC>taT	p.Y331Y	SLC47A2_ENST00000350657.5_Silent_p.Y295Y|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	331					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TGGCCACCTCGTAGATGACAG	0.652													G|||	2136	0.426518	0.3949	0.4409	5008	,	,		12732	0.6081		0.2972	False		,,,				2504	0.4049				p.Y331Y		Atlas-SNP	.											.	SLC47A2	61	.	0			c.C993T						PASS	.	G	,	1849,2557	518.1+/-369.6	408,1033,762	57	48	51		885,993	-6.1	0.5	17	dbSNP_111	51	2637,5963	410.3+/-350.1	411,1815,2074	yes	coding-synonymous,coding-synonymous	SLC47A2	NM_001099646.1,NM_152908.3	,	819,2848,2836	AA,AG,GG		30.6628,41.9655,34.4918	,	295/567,331/603	19608773	4486,8520	2203	4300	6503	SO:0001819	synonymous_variant	146802	exon10			CACCTCGTAGATG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.993C>T	17.37:g.19608773G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_152908	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	CCDS11211.1																																																																																			G|0.622;A|0.378	0.378	strong		0.652	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		A	19608773	G	A	19608773	2	1	22	1	0	0	0	0	0	0	0	1	14648	1140	40	1		1	SLC47A2	17	19608773	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1341	19608773	61586437	8681	13789										
ALDH3A1	218	hgsc.bcm.edu	37	chr17	19642952	19642952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatctcctcttgcatcaccgGggactgggggtccacgtccg	13	14	3	0	rs2228100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19642952G>C	ENST00000457500.2	-	7	1314	c.985C>G	c.(985-987)Ccg>Gcg	p.P329A	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.P329A|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.P256A|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.P329A|ALDH3A1_ENST00000485231.1_5'Flank	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	329			P -> A (in allele ALDH3A1*2; dbSNP:rs2228100). {ECO:0000269|PubMed:9250352}.		aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGCATCACCGGGGACTGGGGG	0.637													G|||	1903	0.379992	0.4758	0.3098	5008	,	,		18858	0.4395		0.2396	False		,,,				2504	0.3834				p.P329A		Atlas-SNP	.											.	ALDH3A1	40	.	0			c.C985G						PASS	.	G	ALA/PRO,ALA/PRO,ALA/PRO	2033,2373	555.8+/-379.4	453,1127,623	50	45	47		985,985,985	2.6	0.9	17	dbSNP_98	47	2160,6440	363.6+/-333.2	266,1628,2406	yes	missense,missense,missense	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	27,27,27	719,2755,3029	CC,CG,GG		25.1163,46.1416,32.239	benign,benign,benign	329/454,329/454,329/454	19642952	4193,8813	2203	4300	6503	SO:0001583	missense	218	exon7			TCACCGGGGACTG	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.985C>G	17.37:g.19642952G>C	ENSP00000411821:p.Pro329Ala	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_001135168	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	759	0.3475274725274725	230	0.46747967479674796	109	0.3011049723756906	247	0.4318181818181818	173	0.22823218997361477	G	9.982	1.228526	0.22542	0.461416	0.251163	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.82	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.459276	0.24947	N	0.034329	T	0.00012	0.0000	N	0.11756	0.17	0.31477	P	0.667686	B;B;B	0.18310	0.0;0.027;0.0	B;B;B	0.17722	0.0;0.019;0.0	T	0.39313	-0.9620	9	0.29301	T	0.29	-36.1848	11.1793	0.48618	0.0:0.0:0.6212:0.3788	rs2228100;rs3744696;rs56956419;rs2228100	329;446;329	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	A	329;387;329;329;256;329	ENSP00000225740:P329A;ENSP00000388469:P329A;ENSP00000411821:P329A;ENSP00000389766:P329A	ENSP00000225740:P329A	P	-	1	0	ALDH3A1	19583544	0.256000	0.24012	0.947000	0.38551	0.652000	0.38707	0.843000	0.27640	2.232000	0.73038	0.655000	0.94253	CCG	G|0.662;C|0.338	0.338	strong		0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		C	19642952	G	C	19642952	3	2	22	1	0	0	0	0	1	0	0	0	497	1232	43	4	392	4	ALDH3A1	17	19642952	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34179	19642952	61552258	8682	13790										
AKAP10	11216	hgsc.bcm.edu	37	chr17	19835185	19835185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaacagagccaggagcaGtcagcgacacgttcccgccc	12	16	1	1	rs141355495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:19835185G>C	ENST00000225737.6	-	10	1731	c.1574C>G	c.(1573-1575)aCt>aGt	p.T525S	AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	525					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GCCAGGAGCAGTCAGCGACAC	0.488													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14389	0.0		0.0	False		,,,				2504	0.0				p.T525S		Atlas-SNP	.											.	AKAP10	47	.	0			c.C1574G						PASS	.	G	SER/THR	6,4400	12.9+/-30.5	0,6,2197	85	83	84		1574	2.8	0.2	17	dbSNP_134	84	0,8600		0,0,4300	yes	missense	AKAP10	NM_007202.2	58	0,6,6497	CC,CG,GG		0.0,0.1362,0.0461	benign	525/663	19835185	6,13000	2203	4300	6503	SO:0001583	missense	11216	exon10			GGAGCAGTCAGCG	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1574C>G	17.37:g.19835185G>C	ENSP00000225737:p.Thr525Ser	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	64	36	0.5625	NM_007202	B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	CCDS11214.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.299	0.240537	0.10023	0.001362	0.0	ENSG00000108599	ENST00000225737	T	0.28666	1.6	5.82	2.79	0.32731	.	0.783781	0.12491	N	0.464265	T	0.05914	0.0154	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33752	-0.9856	10	0.09084	T	0.74	0.4362	1.6078	0.02687	0.238:0.1522:0.4703:0.1395	.	525	O43572	AKA10_HUMAN	S	525	ENSP00000225737:T525S	ENSP00000225737:T525S	T	-	2	0	AKAP10	19775777	0.767000	0.28508	0.197000	0.23402	0.325000	0.28411	0.898000	0.28404	0.820000	0.34516	0.650000	0.86243	ACT	G|0.999;C|0.001	0.001	strong		0.488	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		C	19835185	G	C	19835185	3	2	22	1	0	0	0	0	1	0	0	0	446	1029	36	4	438	4	AKAP10	17	19835185	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	192233	19835185	61360025	8683	13791										
CYTSB	92521	hgsc.bcm.edu	37	chr17	20163529	20163529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagaaaagaccctctggcAgccttggcccgggaatacgg	13	11	1	2	rs2703791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:20163529A>G	ENST00000261503.5	+	12	2913	c.2862A>G	c.(2860-2862)gcA>gcG	p.A954A	SPECC1_ENST00000395530.2_Silent_p.A873A|SPECC1_ENST00000536879.1_Silent_p.A294A|SPECC1_ENST00000395527.4_Silent_p.A954A|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	954					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACCCTCTGGCAGCCTTGGCCC	0.448													G|||	4103	0.819289	0.9713	0.6686	5008	,	,		19738	0.9861		0.5716	False		,,,				2504	0.8037				p.A954A		Atlas-SNP	.											.	SPECC1	100	.	0			c.A2862G						PASS	.	G	,	4007,399	197.4+/-221.5	1822,363,18	97	99	98		2862,2619	-4.7	0.9	17	dbSNP_100	98	4962,3638	523.1+/-380.3	1439,2084,777	no	coding-synonymous,coding-synonymous	SPECC1	NM_001033553.2,NM_001033555.2	,	3261,2447,795	GG,GA,AA		42.3023,9.0558,31.0395	,	954/1069,873/988	20163529	8969,4037	2203	4300	6503	SO:0001819	synonymous_variant	92521	exon12			TCTGGCAGCCTTG	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2862A>G	17.37:g.20163529A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_001033553	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	CCDS32590.1																																																																																			A|0.284;G|0.716	0.716	strong		0.448	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		G	20163529	A	G	20163529	2	3	22	1	0	0	0	0	0	0	0	1	4210	175	7	3		3	CYTSB	17	20163529	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	328344	20163529	61031681	8684	13792										
KSR1	8844	hgsc.bcm.edu	37	chr17	25932816	25932816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggggcctgcatgaacccGccccacctggccattatcac	10	16	1	1	rs55938675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:25932816G>A	ENST00000319524.6	+	15	2037	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	KSR1_ENST00000268763.6_Silent_p.P542P|KSR1_ENST00000509603.2_Silent_p.P657P|KSR1_ENST00000398988.3_Silent_p.P542P			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCATGAACCCGCCCCACCTGG	0.587													G|||	247	0.0493211	0.1641	0.0259	5008	,	,		14332	0.0		0.0109	False		,,,				2504	0.001				p.P542P	Esophageal Squamous(88;1120 1336 6324 10502 16832)	Atlas-SNP	.											.	KSR1	151	.	0			c.G1626A						PASS	.	G		433,3459		23,387,1536	17	17	17		1626	-10.9	0.1	17	dbSNP_129	17	40,8172		0,40,4066	no	coding-synonymous	KSR1	NM_014238.1		23,427,5602	AA,AG,GG		0.4871,11.1254,3.9078		542/763	25932816	473,11631	1946	4106	6052	SO:0001819	synonymous_variant	8844	exon15			GAACCCGCCCCAC	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2037G>A	17.37:g.25932816G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	148	81	0.547297	NM_014238	F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37		95	0.043498168498168496	79	0.16056910569105692	9	0.024861878453038673	0	0.0	7	0.009234828496042216	G	7.486	0.649577	0.14516	0.111254	0.004871	ENSG00000141068	ENST00000398988	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.99999999999997	.	.	.	.	.	.	T	0.02553	-1.1142	3	.	.	.	.	3.8317	0.08877	0.1879:0.2877:0.0681:0.4563	rs55938675	.	.	.	T	393	.	.	A	+	1	0	KSR1	22956943	0.000000	0.05858	0.052000	0.19188	0.964000	0.63967	-4.383000	0.00243	-4.020000	0.00081	-1.333000	0.01266	GCC	G|0.964;A|0.036	0.036	strong		0.587	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		A	25932816	G	A	25932816	2	1	22	1	0	0	0	0	0	0	0	1	8581	1074	38	1		1	KSR1	17	25932816	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5769287	25932816	55262394	8685	13793										
LGALS9	3965	hgsc.bcm.edu	37	chr17	25970633	25970633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcccacccaggcccagggGgcgcagacaaaaagtgagtt	12	12	0	2	rs361497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:25970633G>A	ENST00000395473.2	+	5	1995	c.527G>A	c.(526-528)gGg>gAg	p.G176E	LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.G119E|LGALS9_ENST00000310394.5_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	176					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGGCCCAGGGGGCGCAGACAA	0.617													G|||	1145	0.228634	0.1241	0.3069	5008	,	,		17913	0.25		0.2425	False		,,,				2504	0.2781				p.G176E	Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	Atlas-SNP	.											.	LGALS9	29	.	0			c.G527A						PASS	.	G	,GLU/GLY	695,3711		67,561,1575	25	25	25		,527	2.5	0.9	17	dbSNP_79	25	2100,6492		289,1522,2485	no	intron,missense	LGALS9	NM_002308.3,NM_009587.2	,98	356,2083,4060	AA,AG,GG		24.4413,15.7739,21.5033	,probably-damaging	,176/356	25970633	2795,10203	2203	4296	6499	SO:0001583	missense	3965	exon5			CCAGGGGGCGCAG	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.527G>A	17.37:g.25970633G>A	ENSP00000378856:p.Gly176Glu	Somatic	535	1	0.00186916		WXS	Illumina HiSeq	Phase_I	558	250	0.448029	NM_009587	A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	CCDS11222.1	497	0.22756410256410256	64	0.13008130081300814	109	0.3011049723756906	149	0.26048951048951047	175	0.23087071240105542	G	14.66	2.600487	0.46423	0.157739	0.244413	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.16196	3.9;2.36	3.53	2.55	0.30701	.	0.096582	0.40064	N	0.001182	T	0.00012	0.0000	L	0.27053	0.805	0.44018	P	0.003269999999999995	P;B	0.44734	0.842;0.391	B;B	0.38378	0.272;0.104	T	0.47302	-0.9128	9	0.20046	T	0.44	.	6.1273	0.20186	0.1384:0.0:0.8616:0.0	rs361497;rs4795834;rs17399022;rs61705051	119;176	B4DWP7;O00182	.;LEG9_HUMAN	E	176;119	ENSP00000378856:G176E;ENSP00000393695:G119E	ENSP00000378856:G176E	G	+	2	0	LGALS9	22994760	0.169000	0.23002	0.855000	0.33649	0.658000	0.38924	1.469000	0.35343	1.988000	0.58038	0.586000	0.80456	GGG	G|0.833;A|0.167	0.167	strong		0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		A	25970633	G	A	25970633	3	1	22	1	0	0	0	0	1	0	0	0	8748	1232	43	2	545	2	LGALS9	17	25970633	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37817	25970633	55224577	8686	13794										
NOS2	4843	hgsc.bcm.edu	37	chr17	26085931	26085931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgaaagaaatagtcctcGacctgctcctcattcaattt	6	11	2	2	rs3729662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26085931G>A	ENST00000313735.6	-	26	3563	c.3330C>T	c.(3328-3330)gtC>gtT	p.V1110V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1110					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AATAGTCCTCGACCTGCTCCT	0.607													.|||	73	0.0145767	0.0537	0.0029	5008	,	,		20547	0.0		0.0	False		,,,				2504	0.0				p.V1110V		Atlas-SNP	.											.	NOS2	113	.	0			c.C3330T						PASS	.	G		158,4248	102.5+/-141.1	1,156,2046	30	28	29		3330	-9.7	0.2	17	dbSNP_107	29	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	NOS2	NM_000625.4		1,157,6341	AA,AG,GG		0.0116,3.586,1.2233		1110/1154	26085931	159,12839	2203	4296	6499	SO:0001819	synonymous_variant	4843	exon26			GTCCTCGACCTGC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3330C>T	17.37:g.26085931G>A		Somatic	422	0	0		WXS	Illumina HiSeq	Phase_I	451	212	0.470067	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			.	.	weak		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26085931	G	A	26085931	2	1	22	1	0	0	0	0	0	0	0	1	10543	1045	37	1		1	NOS2	17	26085931	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115298	26085931	55109279	8687	13795										
NOS2	4843	hgsc.bcm.edu	37	chr17	26089867	26089867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacagtcaggtggatctcTgtgggcgtgtgatcccggga	16	10	2	1	rs1060826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26089867T>C	ENST00000313735.6	-	22	2990	c.2757A>G	c.(2755-2757)acA>acG	p.T919T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	919	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGTGGATCTCTGTGGGCGTGT	0.627													.|||	3655	0.729832	0.8041	0.6484	5008	,	,		17935	0.6696		0.6153	False		,,,				2504	0.8671				p.T919T		Atlas-SNP	.											NOS2,NS,carcinoma,0,1	NOS2	113	1	0			c.A2757G						PASS	.	C		3346,1018		1294,758,130	21	17	18	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2757	-2.6	0	17	dbSNP_86	18	5268,3310		1667,1934,688	no	coding-synonymous	NOS2	NM_000625.4		2961,2692,818	CC,CT,TT		38.5871,23.3272,33.4415		919/1154	26089867	8614,4328	2182	4289	6471	SO:0001819	synonymous_variant	4843	exon22			GATCTCTGTGGGC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2757A>G	17.37:g.26089867T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			T|0.303;C|0.697	0.697	strong		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		C	26089867	T	C	26089867	2	2	22	1	0	0	0	0	0	0	0	1	10543	1567	55	3		3	NOS2	17	26089867	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3936	26089867	55105343	8688	13796										
NOS2	4843	hgsc.bcm.edu	37	chr17	26092631	26092631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaccactcgctccaggatAccttggaccagggccggctg	11	16	0	0	rs1060822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26092631A>G	ENST00000313735.6	-	20	2591	c.2358T>C	c.(2356-2358)ggT>ggC	p.G786G		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	786	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCTCCAGGATACCTTGGACCA	0.652													G|||	3660	0.730831	0.8071	0.6484	5008	,	,		17955	0.6706		0.6143	False		,,,				2504	0.8681				p.G786G		Atlas-SNP	.											.	NOS2	113	.	0			c.T2358C						PASS	.	G		3409,983		1331,747,118	33	37	36		2358	1.5	1	17	dbSNP_86	36	5255,3333		1637,1981,676	no	coding-synonymous	NOS2	NM_000625.4		2968,2728,794	GG,GA,AA		38.81,22.3816,33.2512		786/1154	26092631	8664,4316	2196	4294	6490	SO:0001819	synonymous_variant	4843	exon20			CAGGATACCTTGG	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2358T>C	17.37:g.26092631A>G		Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	159	159	1	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			A|0.322;G|0.678	0.678	strong		0.652	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		G	26092631	A	G	26092631	2	3	22	1	0	0	0	0	0	0	0	1	10543	378	14	2		2	NOS2	17	26092631	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2764	26092631	55102579	8689	13797										
NOS2	4843	hgsc.bcm.edu	37	chr17	26107840	26107840	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaggtcaggtgggatttcGaagagctcagggtcacggcc	15	9	3	1	rs34719207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26107840G>A	ENST00000313735.6	-	9	1190	c.957C>T	c.(955-957)ttC>ttT	p.F319F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	319					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTGGGATTTCGAAGAGCTCAG	0.607													G|||	22	0.00439297	0.0151	0.0014	5008	,	,		19507	0.0		0.001	False		,,,				2504	0.0				p.F319F		Atlas-SNP	.											.	NOS2	113	.	0			c.C957T						PASS	.	G		50,4356	50.9+/-86.3	0,50,2153	80	70	73		957	-11	0.1	17	dbSNP_126	73	0,8600		0,0,4300	no	coding-synonymous	NOS2	NM_000625.4		0,50,6453	AA,AG,GG		0.0,1.1348,0.3844		319/1154	26107840	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	4843	exon9			GATTTCGAAGAGC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.957C>T	17.37:g.26107840G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	128	70	0.546875	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			G|0.996;A|0.004	0.004	strong		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26107840	G	A	26107840	2	1	22	1	0	0	0	0	0	0	0	1	10543	1049	37	1		1	NOS2	17	26107840	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15209	26107840	55087370	8690	13798										
SEBOX	147007	hgsc.bcm.edu	37	chr17	26691321	26691321	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacattgacgacaatggccAaggcatagatgaggtcagac	11	10	1	4	rs9910163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26691321A>G	ENST00000292114.3	+	0	3148				VTN_ENST00000536498.1_Missense_Mutation_p.L206S|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_Missense_Mutation_p.L206S|CTB-96E2.2_ENST00000555059.2_3'UTR|VTN_ENST00000431468.1_Missense_Mutation_p.L207S|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GACAATGGCCAAGGCATAGAT	0.577													G|||	4403	0.879193	0.9887	0.7651	5008	,	,		19616	0.9921		0.7584	False		,,,				2504	0.82				p.L207S		Atlas-SNP	.											.	SEBOX	20	.	0			c.T620C						PASS	.	G	SER/LEU	4023,173		1932,159,7	27	31	29		620	2.1	0.1	17	dbSNP_119	29	6566,1888		2540,1486,201	yes	missense	SEBOX	NM_001080837.2	145	4472,1645,208	GG,GA,AA		22.3326,4.123,16.2925	benign	207/217	26691321	10589,2061	2098	4227	6325	SO:0001628	intergenic_variant	645832	exon3			ATGGCCAAGGCAT	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691321A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	87	86	0.988506	NM_001080837		Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	1900	0.86996336996337	483	0.9817073170731707	285	0.787292817679558	569	0.9947552447552448	563	0.7427440633245382	G	0.012	-1.684992	0.00745	0.95877	0.776674	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.91180	-2.72;-2.8;-2.8	5.21	2.09	0.27110	.	0.331751	0.22185	N	0.063460	T	0.00012	0.0000	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.45963	-0.9225	9	0.05959	T	0.93	.	12.9531	0.58411	0.0717:0.0:0.8187:0.1096	rs9910163;rs60945713;rs9910163	207;206	Q9HB31;C9JDG5	SEBOX_HUMAN;.	S	207;206;206;211;232	ENSP00000416240:L207S;ENSP00000444503:L206S;ENSP00000395142:L206S	ENSP00000247029:L211S	L	-	2	0	VTN;CTB-96E2.2	23715448	0.981000	0.34729	0.147000	0.22382	0.188000	0.23474	1.886000	0.39688	0.080000	0.16959	-1.964000	0.00472	TTG	A|0.120;G|0.880	0.880	strong		0.577	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		G	26691321	A	G	26691321	1	3	22	0	1	0	0	0	0	0	0	0	13977	131	5	2		2	SEBOX	17	26691321	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	583481	26691321	54503889	8691	13799										
SEBOX	147007	hgsc.bcm.edu	37	chr17	26691916	26691916	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgccctctccagctccagTagctgccctttgctgaaggt	9	15	1	1	rs2277667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26691916T>C	ENST00000292114.3	+	0	3148				VTN_ENST00000536498.1_Silent_p.L56L|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_Silent_p.L56L|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.T131A|VTN_ENST00000431468.1_Silent_p.L57L|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCAGCTCCAGTAGCTGCCCTT	0.632													C|||	812	0.162141	0.1853	0.0821	5008	,	,		18306	0.244		0.0785	False		,,,				2504	0.1892				p.L57L		Atlas-SNP	.											.	SEBOX	20	.	0			c.A171G						PASS	.	C		721,3659		65,591,1534	58	68	64		171	3.2	1	17	dbSNP_100	64	696,7868		33,630,3619	no	coding-synonymous	SEBOX	NM_001080837.2		98,1221,5153	CC,CT,TT		8.127,16.4612,10.9472		57/217	26691916	1417,11527	2190	4282	6472	SO:0001628	intergenic_variant	645832	exon2			CTCCAGTAGCTGC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691916T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	127	66	0.519685	NM_001080837		Silent	SNP	ENST00000292114.3	37	CCDS11228.1																																																																																			T|0.855;C|0.145	0.145	strong		0.632	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		C	26691916	T	C	26691916	1	2	22	0	1	0	0	0	0	0	0	0	13977	1625	57	2		2	SEBOX	17	26691916	IGR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	595	26691916	54503294	8692	13800										
SEBOX	7448	hgsc.bcm.edu	37	chr17	26694483	26694483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactcgccgtgtgcgaagAttgactcggtagtacttgtc	11	11	0	2	rs2227728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26694483A>G	ENST00000226218.4	-	8	1962	c.1344T>C	c.(1342-1344)aaT>aaC	p.N448N	VTN_ENST00000536498.1_Missense_Mutation_p.I32T|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_Missense_Mutation_p.I32T|CTB-96E2.2_ENST00000555059.2_Silent_p.N106N|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000431468.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	448					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GTGTGCGAAGATTGACTCGGT	0.602													G|||	779	0.155551	0.1596	0.0821	5008	,	,		19913	0.245		0.0785	False		,,,				2504	0.1892				p.N448N		Atlas-SNP	.											.	VTN	45	.	0			c.T1344C						PASS	.	G		647,3759	762.5+/-413.1	50,547,1606	128	106	113		1344	3.3	1	17	dbSNP_98	113	701,7899	786.9+/-407.6	31,639,3630	no	coding-synonymous	VTN	NM_000638.3		81,1186,5236	GG,GA,AA		8.1512,14.6845,10.3644		448/479	26694483	1348,11658	2203	4300	6503	SO:0001819	synonymous_variant	7448	exon8			GCGAAGATTGACT	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.1344T>C	17.37:g.26694483A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	176	80	0.454545	NM_000638	B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	CCDS11229.1	278	0.12728937728937728	87	0.17682926829268292	36	0.09944751381215469	100	0.17482517482517482	55	0.07255936675461741	G	9.371	1.070412	0.20147	0.146845	0.081512	ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000536498;ENST00000438614;ENST00000555059	D;D	0.91351	-2.83;-2.83	5.27	3.28	0.37604	.	.	.	.	.	T	0.00580	0.0019	.	.	.	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	7	0.13108	T	0.6	-46.27	8.5936	0.33701	0.2913:0.0:0.7087:0.0	rs2227728;rs57255300;rs2227728	32	C9JDG5	.	T	32;32;58	ENSP00000444503:I32T;ENSP00000395142:I32T	ENSP00000395142:I32T	I	-	2	0	VTN;CTB-96E2.2	23718610	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.941000	0.40233	0.381000	0.24851	-0.186000	0.12905	ATC	A|0.881;G|0.119	0.119	strong		0.602	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		G	26694483	A	G	26694483	2	3	22	1	0	0	0	0	0	0	0	1	13977	333	12	2		2	SEBOX	17	26694483	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2567	26694483	54500727	8693	13801										
VTN	7448	hgsc.bcm.edu	37	chr17	26694861	26694861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagaacaaggacagccacGtggcgcgggatggccggcgg	19	10	0	1	rs704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26694861G>A	ENST00000226218.4	-	7	1817	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	VTN_ENST00000536498.1_De_novo_Start_OutOfFrame|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_De_novo_Start_OutOfFrame|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.T58M|VTN_ENST00000431468.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	400			T -> M (in dbSNP:rs704). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGACAGCCACGTGGCGCGGGA	0.577													G|||	2780	0.555112	0.6097	0.5389	5008	,	,		20006	0.7083		0.4493	False		,,,				2504	0.4438				p.T400M		Atlas-SNP	.											.	VTN	45	.	0			c.C1199T						PASS	.	G	MET/THR	2493,1913	624.5+/-394.3	699,1095,409	67	58	61		1199	-8.9	0	17	dbSNP_36	61	4134,4466	564.2+/-388.3	993,2148,1159	yes	missense	VTN	NM_000638.3	81	1692,3243,1568	AA,AG,GG		48.0698,43.4181,49.0466	possibly-damaging	400/479	26694861	6627,6379	2203	4300	6503	SO:0001583	missense	7448	exon7			AGCCACGTGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.1199C>T	17.37:g.26694861G>A	ENSP00000226218:p.Thr400Met	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	83	47	0.566265	NM_000638	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	1260|1260	0.5769230769230769|0.5769230769230769	285|285	0.5792682926829268|0.5792682926829268	200|200	0.5524861878453039|0.5524861878453039	438|438	0.7657342657342657|0.7657342657342657	337|337	0.4445910290237467|0.4445910290237467	G|G	12.13|12.13	1.846907|1.846907	0.32606|0.32606	0.565819|0.565819	0.480698|0.480698	ENSG00000258852|ENSG00000255604	ENST00000555059|ENST00000226218	.|T	.|0.04234	.|3.67	4.47|4.47	-8.94|-8.94	0.00768|0.00768	.|Hemopexin/matrixin (1);	.|2.881560	.|0.01033	.|N	.|0.004177	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	P|P	0.0|0.0	.|P	.|0.51240	.|0.943	.|B	.|0.30401	.|0.115	T|T	0.48559|0.48559	-0.9025|-0.9025	4|9	.|0.34782	.|T	.|0.22	1.9295|1.9295	6.4258|6.4258	0.21768|0.21768	0.615:0.1722:0.1319:0.0809|0.615:0.1722:0.1319:0.0809	rs704;rs3203620;rs17849906;rs56842307;rs704|rs704;rs3203620;rs17849906;rs56842307;rs704	.|400	.|P04004	.|VTNC_HUMAN	C|M	10|400	.|ENSP00000226218:T400M	.|ENSP00000226218:T400M	R|T	-|-	1|2	0|0	CTB-96E2.2|AC002094.1	23718988|23718988	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.133000|-3.133000	0.00589|0.00589	-2.112000|-2.112000	0.00835|0.00835	-0.964000|-0.964000	0.02622|0.02622	CGT|ACG	G|0.469;A|0.531	0.531	strong		0.577	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		A	26694861	G	A	26694861	3	1	22	1	0	0	0	0	1	0	0	0	17234	1145	40	1	245	1	VTN	17	26694861	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	378	26694861	54500349	8694	13802										
SLC13A2	9058	hgsc.bcm.edu	37	chr17	26824156	26824156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacatcattggagtcctgAtcatcgcactggccatcaac	7	13	4	1	rs11567842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26824156A>G	ENST00000314669.5	+	12	2068	c.1648A>G	c.(1648-1650)Atc>Gtc	p.I550V	SLC13A2_ENST00000545060.1_Missense_Mutation_p.I507V|SLC13A2_ENST00000537681.1_Missense_Mutation_p.I479V|SLC13A2_ENST00000444914.3_Missense_Mutation_p.I599V	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	550			I -> V (in dbSNP:rs11567842). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17470169}.		dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.I550V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGGAGTCCTGATCATCGCACT	0.612													G|||	2371	0.473442	0.6415	0.5346	5008	,	,		19203	0.3452		0.3698	False		,,,				2504	0.4417				p.I599V		Atlas-SNP	.											SLC13A2,NS,carcinoma,0,1	SLC13A2	125	1	1	Substitution - Missense(1)	stomach(1)	c.A1795G						PASS	.	G	VAL/ILE,VAL/ILE,VAL/ILE	2552,1854	538.7+/-375.1	761,1030,412	153	125	135		1648,1519,1795	3.2	1	17	dbSNP_120	135	2975,5625	667.1+/-402.4	526,1923,1851	yes	missense,missense,missense	SLC13A2	NM_003984.3,NM_001145976.1,NM_001145975.1	29,29,29	1287,2953,2263	GG,GA,AA		34.593,42.079,42.4958	benign,benign,benign	550/593,507/550,599/642	26824156	5527,7479	2203	4300	6503	SO:0001583	missense	9058	exon12			GTCCTGATCATCG	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1648A>G	17.37:g.26824156A>G	ENSP00000316202:p.Ile550Val	Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	298	298	1	NM_001145975	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	1012	0.4633699633699634	330	0.6707317073170732	193	0.5331491712707183	223	0.38986013986013984	266	0.35092348284960423	G	0.131	-1.113770	0.01799	0.57921	0.34593	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	5.27	3.21	0.36854	.	0.772693	0.12195	N	0.490860	T	0.00012	0.0000	N	0.00504	-1.425	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.27054	-1.0085	9	0.02654	T	1	-21.18	8.1201	0.30965	0.4377:0.0:0.5623:0.0	rs11567842;rs11568454;rs52804705;rs56617498;rs57825258;rs11567842	507;599;479;550	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	V	550;599;507;479	ENSP00000316202:I550V;ENSP00000392411:I599V;ENSP00000441935:I507V;ENSP00000440802:I479V	ENSP00000316202:I550V	I	+	1	0	SLC13A2	23848283	0.529000	0.26322	1.000000	0.80357	0.420000	0.31355	0.555000	0.23422	0.590000	0.29694	-0.215000	0.12644	ATC	A|0.560;G|0.440	0.440	strong		0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		G	26824156	A	G	26824156	3	3	22	1	0	0	0	0	1	0	0	0	14392	333	12	2	1841	2	SLC13A2	17	26824156	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	129295	26824156	54371054	8695	13803										
FOXN1	8456	hgsc.bcm.edu	37	chr17	26864302	26864302	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggggcaggtgacttggcaGccccgggcagtggtggctcc	19	11	0	1	rs532648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26864302G>C	ENST00000226247.2	+	8	1824	c.1795G>C	c.(1795-1797)Gcc>Ccc	p.A599P	FOXN1_ENST00000579795.1_Missense_Mutation_p.A599P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	599			A -> P (in dbSNP:rs532648).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGACTTGGCAGCCCCGGGCAG	0.677													C|||	1967	0.392772	0.6309	0.3862	5008	,	,		16861	0.2212		0.334	False		,,,				2504	0.3129				p.A599P		Atlas-SNP	.											.	FOXN1	51	.	0			c.G1795C						PASS	.	C	PRO/ALA	2506,1900	539.4+/-375.3	695,1116,392	39	40	39		1795	2.2	0.9	17	dbSNP_83	39	2419,6181	693.8+/-404.7	333,1753,2214	yes	missense	FOXN1	NM_003593.2	27	1028,2869,2606	CC,CG,GG		28.1279,43.123,37.8671	benign	599/649	26864302	4925,8081	2203	4300	6503	SO:0001583	missense	8456	exon8			TTGGCAGCCCCGG	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1795G>C	17.37:g.26864302G>C	ENSP00000226247:p.Ala599Pro	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	177	176	0.99435	NM_003593	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	829	0.37957875457875456	313	0.6361788617886179	137	0.3784530386740331	144	0.2517482517482518	235	0.3100263852242744	C	0.003	-2.391997	0.00200	0.56877	0.281279	ENSG00000109101	ENST00000226247	D	0.92348	-3.02	4.2	2.18	0.27775	.	0.393102	0.22159	N	0.063817	T	0.00012	0.0000	N	0.00335	-1.625	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41822	-0.9487	9	0.02654	T	1	.	5.1473	0.14991	0.1624:0.5975:0.0991:0.141	rs532648;rs3744636	599	O15353	FOXN1_HUMAN	P	599	ENSP00000226247:A599P	ENSP00000226247:A599P	A	+	1	0	FOXN1	23888429	0.000000	0.05858	0.918000	0.36340	0.306000	0.27790	0.598000	0.24074	-0.141000	0.11374	-2.896000	0.00094	GCC	G|0.618;C|0.382	0.382	strong		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			C	26864302	G	C	26864302	3	2	22	1	0	0	0	0	1	0	0	0	6019	971	34	4	1825	4	FOXN1	17	26864302	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40146	26864302	54330908	8696	13804										
SDF2	6388	hgsc.bcm.edu	37	chr17	26982341	26982341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaagtgaagtggtgactAtggaggtttcggccagtgtt	17	4	0	3	rs35579310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26982341A>G	ENST00000247020.4	-	2	610	c.312T>C	c.(310-312)caT>caC	p.H104H	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	104	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					AGTGGTGACTATGGAGGTTTC	0.537													A|||	47	0.00938498	0.0325	0.0058	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0				p.H104H		Atlas-SNP	.											.	SDF2	17	.	0			c.T312C						PASS	.	A		123,4283	91.6+/-130.3	1,121,2081	156	134	141		312	-0.8	1	17	dbSNP_126	141	0,8600		0,0,4300	no	coding-synonymous	SDF2	NM_006923.2		1,121,6381	GG,GA,AA		0.0,2.7916,0.9457		104/212	26982341	123,12883	2203	4300	6503	SO:0001819	synonymous_variant	6388	exon2			GTGACTATGGAGG	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.312T>C	17.37:g.26982341A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	137	58	0.423358	NM_006923	Q9BQ79	Silent	SNP	ENST00000247020.4	37	CCDS11238.1																																																																																			A|0.991;G|0.009	0.009	strong		0.537	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		G	26982341	A	G	26982341	2	3	22	1	0	0	0	0	0	0	0	1	13960	446	16	2		2	SDF2	17	26982341	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	118039	26982341	54212869	8697	13805										
SDF2	6388	hgsc.bcm.edu	37	chr17	26988852	26988852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggctggacgctcccacagCgctccacaaaccccccaaca	7	20	0	0	rs35404078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:26988852C>T	ENST00000247020.4	-	1	341	c.43G>A	c.(43-45)Gct>Act	p.A15T	SDF2_ENST00000592250.1_Intron|SUPT6H_ENST00000314616.6_5'Flank|SUPT6H_ENST00000347486.4_5'Flank	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	15			A -> T (in dbSNP:rs35404078).		protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GCTCCCACAGCGCTCCACAAA	0.592													C|||	47	0.00938498	0.0325	0.0058	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.0				p.A15T		Atlas-SNP	.											.	SDF2	17	.	0			c.G43A						PASS	.	C	THR/ALA	125,4281	92.5+/-131.2	1,123,2079	152	133	139		43	4.5	1	17	dbSNP_126	139	0,8600		0,0,4300	yes	missense	SDF2	NM_006923.2	58	1,123,6379	TT,TC,CC		0.0,2.837,0.9611	benign	15/212	26988852	125,12881	2203	4300	6503	SO:0001583	missense	6388	exon1			CCACAGCGCTCCA	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.43G>A	17.37:g.26988852C>T	ENSP00000247020:p.Ala15Thr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_006923	Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	CCDS11238.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	C	13.72	2.321744	0.41096	0.02837	0.0	ENSG00000132581	ENST00000247020	D	0.84516	-1.86	5.54	4.54	0.55810	.	0.694941	0.13447	N	0.387194	T	0.60064	0.2240	L	0.47716	1.5	0.24340	N	0.994965	B;B	0.26147	0.143;0.143	B;B	0.15484	0.013;0.013	T	0.57522	-0.7797	10	0.13853	T	0.58	-4.1998	15.2037	0.73159	0.0:0.8229:0.177:0.0	rs35404078	15;15	Q6IBU4;Q99470	.;SDF2_HUMAN	T	15	ENSP00000247020:A15T	ENSP00000247020:A15T	A	-	1	0	SDF2	24012979	0.517000	0.26226	0.998000	0.56505	0.367000	0.29736	1.004000	0.29822	2.598000	0.87819	0.561000	0.74099	GCT	C|0.990;T|0.010	0.010	strong		0.592	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		T	26988852	C	T	26988852	3	4	22	1	0	0	0	0	1	0	0	0	13960	768	27	1	604	1	SDF2	17	26988852	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6511	26988852	54206358	8698	13806										
SEZ6	124925	hgsc.bcm.edu	37	chr17	27284443	27284443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgaggatggagctgcccAtcagcacaaaaccctggtca	12	11	2	1	rs12941884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27284443A>G	ENST00000317338.12	-	12	2845	c.2417T>C	c.(2416-2418)aTg>aCg	p.M806T	SEZ6_ENST00000442608.3_Missense_Mutation_p.M806T|SEZ6_ENST00000360295.9_Missense_Mutation_p.M806T|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	806	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.		M -> T (in dbSNP:rs12941884). {ECO:0000269|PubMed:14702039}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGAGCTGCCCATCAGCACAAA	0.582													G|||	954	0.190495	0.2224	0.1859	5008	,	,		17489	0.123		0.1213	False		,,,				2504	0.2914				p.M806T		Atlas-SNP	.											.	SEZ6	61	.	0			c.T2417C						PASS	.	G	THR/MET,THR/MET	773,3133		88,597,1268	88	98	95		2417,2417	3.7	1	17	dbSNP_121	95	1033,7269		63,907,3181	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	81,81	151,1504,4449	GG,GA,AA		12.4428,19.7901,14.7936	benign,benign	806/994,806/995	27284443	1806,10402	1953	4151	6104	SO:0001583	missense	124925	exon12			CTGCCCATCAGCA	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2417T>C	17.37:g.27284443A>G	ENSP00000312942:p.Met806Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	141	77	0.546099	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	311	0.1423992673992674	101	0.20528455284552846	56	0.15469613259668508	59	0.10314685314685315	95	0.12532981530343007	G	1.337	-0.595139	0.03771	0.197901	0.124428	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.64618	-0.11;-0.11	5.69	3.65	0.41850	Complement control module (2);Sushi/SCR/CCP (3);	0.060679	0.64402	N	0.000004	T	0.00039	0.0001	N	0.01048	-1.04	0.09310	P	0.9999999999999786	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08452	-1.0721	9	0.10636	T	0.68	.	8.0263	0.30438	0.1504:0.1309:0.7186:0.0	rs12941884;rs52816964;rs61301981;rs12941884	806;681;806	Q53EL9-3;Q53EL9-2;Q53EL9	.;.;SEZ6_HUMAN	T	806;806;681;806	ENSP00000403784:M806T;ENSP00000353440:M806T	ENSP00000312942:M681T	M	-	2	0	SEZ6	24308569	0.992000	0.36948	0.999000	0.59377	0.783000	0.44284	2.085000	0.41634	0.763000	0.33175	-0.642000	0.03964	ATG	A|0.847;G|0.153	0.153	strong		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			G	27284443	A	G	27284443	3	3	22	1	0	0	0	0	1	0	0	0	14142	217	8	2	604	2	SEZ6	17	27284443	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	295591	27284443	53910767	8699	13807										
SEZ6	124925	hgsc.bcm.edu	37	chr17	27286851	27286851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccacagggtaggtgggtgTgctgctgctgaagttaccgt	15	9	0	1	rs1976165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27286851T>C	ENST00000317338.12	-	8	2064	c.1636A>G	c.(1636-1638)Aca>Gca	p.T546A	SEZ6_ENST00000442608.3_Missense_Mutation_p.T546A|SEZ6_ENST00000360295.9_Missense_Mutation_p.T546A|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	546	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		T -> A (in dbSNP:rs1976165).		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TAGGTGGGTGTGCTGCTGCTG	0.577													C|||	1805	0.360423	0.4977	0.317	5008	,	,		20834	0.244		0.2525	False		,,,				2504	0.4366				p.T546A		Atlas-SNP	.											.	SEZ6	61	.	0			c.A1636G	GRCh37	CM073339	SEZ6	M	rs1976165	PASS	.	C	ALA/THR,ALA/THR	1790,2384		381,1028,678	62	70	68		1636,1636	5.1	0.9	17	dbSNP_92	68	2162,6318		280,1602,2358	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	58,58	661,2630,3036	CC,CT,TT		25.4953,42.8845,31.2312	benign,benign	546/994,546/995	27286851	3952,8702	2087	4240	6327	SO:0001583	missense	124925	exon8			TGGGTGTGCTGCT	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1636A>G	17.37:g.27286851T>C	ENSP00000312942:p.Thr546Ala	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	57	25	0.438596	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	677	0.309981684981685	243	0.49390243902439024	113	0.31215469613259667	145	0.2534965034965035	176	0.23218997361477572	C	12.14	1.848110	0.32699	0.428845	0.254953	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.63744	-0.06;-0.06	5.07	5.07	0.68467	Complement control module (2);Sushi/SCR/CCP (3);	0.135388	0.48767	N	0.000180	T	0.00012	0.0000	L	0.34521	1.04	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43245	-0.9403	9	0.30854	T	0.27	.	11.8833	0.52587	0.0:0.9138:0.0:0.0862	rs1976165;rs52834488;rs60868464;rs1976165	546;546	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	A	546;546;421;546	ENSP00000403784:T546A;ENSP00000353440:T546A	ENSP00000312942:T421A	T	-	1	0	SEZ6	24310977	1.000000	0.71417	0.865000	0.33974	0.752000	0.42762	5.780000	0.68956	1.281000	0.44480	-0.215000	0.12644	ACA	T|0.664;C|0.336	0.336	strong		0.577	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			C	27286851	T	C	27286851	3	2	22	1	0	0	0	0	1	0	0	0	14142	1696	59	2	1401	2	SEZ6	17	27286851	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2408	27286851	53908359	8700	13808										
MYO18A	399687	hgsc.bcm.edu	37	chr17	27442710	27442710	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcccaggccactctcctcGgggccctggcggaaggaggt	14	15	2	0	rs28587908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27442710G>C	ENST00000527372.1	-	12	2379	c.2199C>G	c.(2197-2199)ccC>ccG	p.P733P	MYO18A_ENST00000531253.1_Silent_p.P733P|MYO18A_ENST00000533112.1_Silent_p.P733P|MYO18A_ENST00000354329.4_Silent_p.P733P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	733	Myosin motor.				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)			CACTCTCCTCGGGGCCCTGGC	0.642													G|||	495	0.0988419	0.149	0.0562	5008	,	,		19160	0.0456		0.0497	False		,,,				2504	0.1667				p.P733P	Esophageal Squamous(182;472 2015 7001 15270 22562)	Atlas-SNP	.											.	MYO18A	217	.	0			c.C2199G						PASS	.	G	,	497,3575		26,445,1565	26	32	30		2199,2199	-10.9	0.4	17	dbSNP_125	30	355,8015		5,345,3835	no	coding-synonymous,coding-synonymous	MYO18A	NM_078471.3,NM_203318.1	,	31,790,5400	CC,CG,GG		4.2413,12.2053,6.8478	,	733/2055,733/2040	27442710	852,11590	2036	4185	6221	SO:0001819	synonymous_variant	399687	exon12			CTCCTCGGGGCCC	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.2199C>G	17.37:g.27442710G>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	112	55	0.491071	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	CCDS45642.1																																																																																			G|0.893;C|0.107	0.107	strong		0.642	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27442710	G	C	27442710	2	2	22	1	0	0	0	0	0	0	0	1	10065	1103	39	4		4	MYO18A	17	27442710	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155859	27442710	53752500	8701	13809										
CRYBA1	1411	hgsc.bcm.edu	37	chr17	27580756	27580756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctccttgcaagccatgggCtggttcaacaacgaagtcgg	11	13	1	0	rs1047790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27580756C>T	ENST00000225387.3	+	5	457	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	152	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AAGCCATGGGCTGGTTCAACA	0.453													T|||	1456	0.290735	0.3578	0.1916	5008	,	,		17909	0.3244		0.173	False		,,,				2504	0.3569				p.G152G		Atlas-SNP	.											.	CRYBA1	15	.	0			c.C456T						PASS	.	T		1462,2944	680.2+/-403.8	236,990,977	83	82	82	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	456	-4.9	0.8	17	dbSNP_86	82	1403,7197	753.3+/-407.4	104,1195,3001	no	coding-synonymous	CRYBA1	NM_005208.4		340,2185,3978	TT,TC,CC		16.314,33.182,22.0283		152/216	27580756	2865,10141	2203	4300	6503	SO:0001819	synonymous_variant	1411	exon5			CATGGGCTGGTTC		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"eye lens structural protein"	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.456C>T	17.37:g.27580756C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_005208	Q13633|Q14CM9	Silent	SNP	ENST00000225387.3	37	CCDS11249.1																																																																																			C|0.756;T|0.244	0.244	strong		0.453	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		T	27580756	C	T	27580756	2	4	22	1	0	0	0	0	0	0	0	1	3907	784	28	2		2	CRYBA1	17	27580756	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138046	27580756	53614454	8702	13810										
NUFIP2	57532	hgsc.bcm.edu	37	chr17	27620934	27620934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggctgctggtgatgatgGtggtggtggtggttgtggct	21	3	0	3	rs1054145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27620934G>A	ENST00000225388.4	-	1	202	c.144C>T	c.(142-144)caC>caT	p.H48H	NUFIP2_ENST00000579665.1_Silent_p.H48H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	48	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ggtgatgatggtggtggtggt	0.592													G|||	77	0.0153754	0.0522	0.0072	5008	,	,		10946	0.0		0.003	False		,,,				2504	0.0				p.H48H		Atlas-SNP	.											NUFIP2,NS,carcinoma,-2,1	NUFIP2	60	1	0			c.C144T						PASS	.	G		227,4179	135.3+/-171.4	7,213,1983	144	141	142		144	3.2	1	17	dbSNP_86	142	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	NUFIP2	NM_020772.2		7,215,6281	AA,AG,GG		0.0233,5.1521,1.7607		48/696	27620934	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	57532	exon1			ATGATGGTGGTGG	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.144C>T	17.37:g.27620934G>A		Somatic	476	0	0		WXS	Illumina HiSeq	Phase_I	525	275	0.52381	NM_020772	A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	CCDS32600.1																																																																																			G|0.981;A|0.019	0.019	strong		0.592	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		A	27620934	G	A	27620934	2	1	22	1	0	0	0	0	0	0	0	1	10749	1252	44	2		2	NUFIP2	17	27620934	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40178	27620934	53574276	8703	13811										
ANKRD13B	124930	hgsc.bcm.edu	37	chr17	27939427	27939427	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcatcctcagaaatcccGatcttccacatcctcaacgc	3	18	4	1	rs147156385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27939427G>C	ENST00000394859.3	+	12	1420	c.1266G>C	c.(1264-1266)ccG>ccC	p.P422P	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	422						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CAGAAATCCCGATCTTCCACA	0.637													G|||	9	0.00179712	0.0068	0.0	5008	,	,		12004	0.0		0.0	False		,,,				2504	0.0				p.P422P		Atlas-SNP	.											ANKRD13B,NS,carcinoma,0,1	ANKRD13B	39	1	0			c.G1266C						PASS	.	G		31,4373		0,31,2171	45	45	45		1266	-0.6	1	17	dbSNP_134	45	2,8596		0,2,4297	no	coding-synonymous	ANKRD13B	NM_152345.4		0,33,6468	CC,CG,GG		0.0233,0.7039,0.2538		422/627	27939427	33,12969	2202	4299	6501	SO:0001819	synonymous_variant	124930	exon12			AATCCCGATCTTC	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1266G>C	17.37:g.27939427G>C		Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	213	104	0.488263	NM_152345	Q8N7S9	Silent	SNP	ENST00000394859.3	37	CCDS11251.1																																																																																			G|0.998;C|0.002	0.002	strong		0.637	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		C	27939427	G	C	27939427	2	2	22	1	0	0	0	0	0	0	0	1	642	1045	37	4		4	ANKRD13B	17	27939427	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	318493	27939427	53255783	8704	13812										
SSH2	85464	hgsc.bcm.edu	37	chr17	27959903	27959903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgactgaaattgcattttccGagtgagactgcatgaagatg	11	6	0	5	rs2289629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:27959903G>A	ENST00000269033.3	-	15	2379	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L	SSH2_ENST00000540801.1_Missense_Mutation_p.S770L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	743			S -> L (in dbSNP:rs2289629).		actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCATTTTCCGAGTGAGACTG	0.403													G|||	925	0.184704	0.1044	0.2983	5008	,	,		22841	0.0764		0.335	False		,,,				2504	0.1697				p.S743L		Atlas-SNP	.											.	SSH2	107	.	0			c.C2228T						PASS	.	G	LEU/SER	680,3726	284.9+/-277.9	48,584,1571	71	65	67		2228	4.1	1	17	dbSNP_100	67	2861,5739	448.8+/-361.9	484,1893,1923	yes	missense	SSH2	NM_033389.2	145	532,2477,3494	AA,AG,GG		33.2674,15.4335,27.2259	benign	743/1424	27959903	3541,9465	2203	4300	6503	SO:0001583	missense	85464	exon15			TTTTCCGAGTGAG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2228C>T	17.37:g.27959903G>A	ENSP00000269033:p.Ser743Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_033389	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	432	0.1978021978021978	50	0.1016260162601626	108	0.2983425414364641	35	0.06118881118881119	239	0.3153034300791557	G	14.83	2.653224	0.47362	0.154335	0.332674	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.54675	0.56;0.56	6.08	4.1	0.47936	.	0.456816	0.22979	N	0.053336	T	0.00012	0.0000	M	0.66939	2.045	0.09310	P	0.9999999999999972	B;B	0.26081	0.141;0.087	B;B	0.20184	0.028;0.013	T	0.09530	-1.0670	9	0.48119	T	0.1	-1.9919	17.9574	0.89073	0.0645:0.0:0.9355:0.0	rs2289629;rs17766954;rs52836060;rs59862381;rs2289629	770;743	F5H527;Q76I76	.;SSH2_HUMAN	L	743;770	ENSP00000269033:S743L;ENSP00000444743:S770L	ENSP00000269033:S743L	S	-	2	0	SSH2	24984029	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.615000	0.54167	0.907000	0.36646	-0.940000	0.02684	TCG	G|0.775;A|0.225	0.225	strong		0.403	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	27959903	G	A	27959903	3	1	22	1	0	0	0	0	1	0	0	0	15184	1059	37	1	2047	1	SSH2	17	27959903	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20476	27959903	53235307	8705	13813										
EFCAB5	374786	hgsc.bcm.edu	37	chr17	28381141	28381141	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcaagaggaagttccaacCttaagcagaaaagatcactt	8	9	1	3	rs4074170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:28381141C>G	ENST00000394835.3	+	10	2361	c.2169C>G	c.(2167-2169)acC>acG	p.T723T	EFCAB5_ENST00000394832.2_Silent_p.T723T|EFCAB5_ENST00000536908.2_Silent_p.T667T|EFCAB5_ENST00000541045.1_Silent_p.T380T|EFCAB5_ENST00000378738.3_Silent_p.T723T|EFCAB5_ENST00000320856.5_Silent_p.T723T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	723							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGTTCCAACCTTAAGCAGAA	0.388													G|||	2859	0.570887	0.9327	0.4669	5008	,	,		20652	0.2917		0.5656	False		,,,				2504	0.4489				p.T723T		Atlas-SNP	.											.	EFCAB5	122	.	0			c.C2169G						PASS	.	G	,	3203,509		1383,437,36	21	20	21		2001,2169	3	0	17	dbSNP_108	21	4436,3744		1218,2000,872	no	coding-synonymous,coding-synonymous	EFCAB5	NM_001145053.1,NM_198529.3	,	2601,2437,908	GG,GC,CC		45.7702,13.7123,35.7635	,	667/857,723/1504	28381141	7639,4253	1856	4090	5946	SO:0001819	synonymous_variant	374786	exon10			TCCAACCTTAAGC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2169C>G	17.37:g.28381141C>G		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	207	98	0.47343	NM_198529	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																			C|0.514;G|0.486	0.486	strong		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		G	28381141	C	G	28381141	2	3	22	1	0	0	0	0	0	0	0	1	4938	668	24	4		4	EFCAB5	17	28381141	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	421238	28381141	52814069	8706	13814										
EFCAB5	374786	hgsc.bcm.edu	37	chr17	28407876	28407876	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aataagcatgattataatggTtcattcctggctctgcctct	7	9	3	1	rs7221743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:28407876T>G	ENST00000394835.3	+	17	3495	c.3303T>G	c.(3301-3303)ggT>ggG	p.G1101G	EFCAB5_ENST00000320856.5_Silent_p.G977G|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1101							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATTATAATGGTTCATTCCTGG	0.443													G|||	2858	0.570687	0.9402	0.4669	5008	,	,		20119	0.2897		0.5656	False		,,,				2504	0.4397				p.G1101G		Atlas-SNP	.											.	EFCAB5	122	.	0			c.T3303G						PASS	.	G		3282,490		1430,422,34	87	84	85		3303	-3.8	0.9	17	dbSNP_116	85	4465,3755		1217,2031,862	no	coding-synonymous	EFCAB5	NM_198529.3		2647,2453,896	GG,GT,TT		45.6813,12.9905,35.3986		1101/1504	28407876	7747,4245	1886	4110	5996	SO:0001819	synonymous_variant	374786	exon17			TAATGGTTCATTC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3303T>G	17.37:g.28407876T>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	134	134	1	NM_198529	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																			T|0.418;G|0.582	0.582	strong		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		G	28407876	T	G	28407876	2	3	22	1	0	0	0	0	0	0	0	1	4938	1712	60	5		5	EFCAB5	17	28407876	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26735	28407876	52787334	8707	13815										
ATAD5	79915	hgsc.bcm.edu	37	chr17	29159404	29159404	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcggctgcagctgctccGcctcccgtgaaggactgcga	14	14	0	1	rs999796|rs372459410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:29159404G>C	ENST00000321990.4	+	1	417	c.39G>C	c.(37-39)ccG>ccC	p.P13P	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	13					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGCTGCTCCGCCTCCCGTGA	0.627													C|||	1441	0.28774	0.5681	0.2305	5008	,	,		16614	0.1349		0.1173	False		,,,				2504	0.2822				p.P13P		Atlas-SNP	.											ATAD5,NS,carcinoma,0,1	ATAD5	150	1	0			c.G39C						PASS	.	C		2118,2288	595.7+/-388.5	507,1104,592	67	73	71		39	2.8	1	17	dbSNP_86	71	961,7639	773.6+/-407.7	45,871,3384	yes	coding-synonymous	ATAD5	NM_024857.3		552,1975,3976	CC,CG,GG		11.1744,48.0708,23.6737		13/1845	29159404	3079,9927	2203	4300	6503	SO:0001819	synonymous_variant	79915	exon1			TGCTCCGCCTCCC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.39G>C	17.37:g.29159404G>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																			G|0.765;C|0.235	0.235	strong		0.627	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29159404	G	C	29159404	2	2	22	1	0	0	0	0	0	0	0	1	1076	1074	38	4		4	ATAD5	17	29159404	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	751528	29159404	52035806	8708	13816										
ATAD5	79915	hgsc.bcm.edu	37	chr17	29161202	29161202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaagatgatgacacatctAcctgcaaaacaattacaaaa	5	8	1	4	rs9910051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:29161202A>T	ENST00000321990.4	+	2	481	c.103A>T	c.(103-105)Acc>Tcc	p.T35S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	35			T -> S (in dbSNP:rs9910051).		cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGACACATCTACCTGCAAAAC	0.308													T|||	1442	0.287939	0.5681	0.2305	5008	,	,		17249	0.1359		0.1163	False		,,,				2504	0.2832				p.T35S		Atlas-SNP	.											.	ATAD5	150	.	0			c.A103T						PASS	.	T	SER/THR	2097,2303	549.6+/-377.8	501,1095,604	75	82	80		103	5.5	1	17	dbSNP_119	80	960,7638	761.2+/-407.6	45,870,3384	yes	missense	ATAD5	NM_024857.3	58	546,1965,3988	TT,TA,AA		11.1654,47.6591,23.519	benign	35/1845	29161202	3057,9941	2200	4299	6499	SO:0001583	missense	79915	exon2			ACATCTACCTGCA		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.103A>T	17.37:g.29161202A>T	ENSP00000313171:p.Thr35Ser	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	92	36	0.391304	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	518	0.23717948717948717	269	0.5467479674796748	81	0.22375690607734808	90	0.15734265734265734	78	0.10290237467018469	T	11.35	1.612102	0.28712	0.476591	0.111654	ENSG00000176208	ENST00000321990	T	0.05855	3.38	5.47	5.47	0.80525	.	0.556987	0.18338	N	0.144288	T	0.00012	0.0000	N	0.00112	-2.095	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	9	0.02654	T	1	.	6.5206	0.22272	0.1388:0.0722:0.0:0.789	rs9910051;rs52830976;rs9910051	35	Q96QE3	ATAD5_HUMAN	S	35	ENSP00000313171:T35S	ENSP00000313171:T35S	T	+	1	0	ATAD5	26185328	0.998000	0.40836	0.974000	0.42286	0.914000	0.54420	1.019000	0.30014	0.911000	0.36747	-0.257000	0.10917	ACC	A|0.786;N|0.000	.	strong		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29161202	A	T	29161202	3	4	22	1	0	0	0	0	1	0	0	0	1076	391	14	5	109	5	ATAD5	17	29161202	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1798	29161202	52034008	8709	13817										
NF1	4763	hgsc.bcm.edu	37	chr17	29553485	29553485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgcagcggaacccccccGatttgccgacaagcccagac	11	16	0	1	rs2285892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:29553485G>A	ENST00000358273.4	+	18	2417	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	NF1_ENST00000356175.3_Silent_p.P678P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	678			P -> L (in dbSNP:rs17881753). {ECO:0000269|Ref.7}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I679fs*21(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAACCCCCCCGATTTGCCGAC	0.483			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G|||	2488	0.496805	0.7428	0.4683	5008	,	,		17568	0.5258		0.2803	False		,,,				2504	0.3773				p.P678P		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	13	Whole gene deletion(8)|Unknown(4)|Insertion - Frameshift(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	c.G2034A						PASS	.	G	,	2929,1477	677.5+/-403.4	983,963,257	56	63	61		2034,2034	-9.9	0.4	17	dbSNP_100	61	2486,6114	407.2+/-349.1	357,1772,2171	no	coding-synonymous,coding-synonymous	NF1	NM_000267.3,NM_001042492.2	,	1340,2735,2428	AA,AG,GG		28.907,33.5225,41.6346	,	678/2819,678/2840	29553485	5415,7591	2203	4300	6503	SO:0001819	synonymous_variant	4763	exon18	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CCCCCCGATTTGC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2034G>A	17.37:g.29553485G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	63	25	0.396825	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																			G|0.568;A|0.432	0.432	strong		0.483	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29553485	G	A	29553485	2	1	22	1	0	0	0	0	0	0	0	1	10356	1045	37	1		1	NF1	17	29553485	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	392283	29553485	51641725	8710	13818										
NF1	4763	hgsc.bcm.edu	37	chr17	29652884	29652884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgctgatataccatgtcTtactgactttaaagccatat	5	8	1	2	rs10512435	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:29652884T>C	ENST00000358273.4	+	37	5265	c.4882T>C	c.(4882-4884)Tta>Cta	p.L1628L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.L1607L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1628	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATACCATGTCTTACTGACTTT	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T|||	107	0.0213658	0.0802	0.0014	5008	,	,		19715	0.0		0.0	False		,,,				2504	0.0				p.L1628L		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.T4882C						PASS	.	T	,	309,4097	164.7+/-196.3	6,297,1900	116	112	113		4819,4882	4.6	1	17	dbSNP_119	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NF1	NM_000267.3,NM_001042492.2	,	6,298,6199	CC,CT,TT		0.0116,7.0132,2.3835	,	1607/2819,1628/2840	29652884	310,12696	2203	4300	6503	SO:0001819	synonymous_variant	4763	exon37	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CATGTCTTACTGA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4882T>C	17.37:g.29652884T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	76	42	0.552632	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																			T|0.979;C|0.021	0.021	strong		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29652884	T	C	29652884	2	2	22	1	0	0	0	0	0	0	0	1	10356	1606	56	3		3	NF1	17	29652884	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99399	29652884	51542326	8711	13819										
LRRC37B	114659	hgsc.bcm.edu	37	chr17	30372739	30372739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcttacctagccatatggCctgctgcctctgccaattta	7	13	2	0	rs1638299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:30372739C>T	ENST00000341671.7	+	8	2149	c.2144C>T	c.(2143-2145)gCc>gTc	p.A715V	SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000327564.7_Missense_Mutation_p.A742V|LRRC37B_ENST00000394713.3_Missense_Mutation_p.A664V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.A633V|LRRC37B_ENST00000584368.1_Missense_Mutation_p.A676V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	715						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A715V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCATATGGCCTGCTGCCTC	0.433																																					p.A715V		Atlas-SNP	.											LRRC37B,NS,carcinoma,0,1	LRRC37B	67	1	1	Substitution - Missense(1)	stomach(1)	c.C2144T						scavenged	.						99	82	88					17																	30372739		2202	4297	6499	SO:0001583	missense	114659	exon8			ATATGGCCTGCTG	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2144C>T	17.37:g.30372739C>T	ENSP00000340519:p.Ala715Val	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	59	17	0.288136	NM_052888	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	277	0.12683150183150182	150	0.3048780487804878	44	0.12154696132596685	46	0.08041958041958042	37	0.048812664907651716	N	15.46	2.840171	0.51057	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.50813	0.73;0.73;0.87;0.73	1.9	-0.245	0.13027	.	.	.	.	.	T	0.00012	0.0000	M	0.74881	2.28	0.20403	N	0.999908	D;B	0.61697	0.99;0.106	P;B	0.56434	0.798;0.003	T	0.01283	-1.1396	9	0.54805	T	0.06	.	6.0128	0.19586	0.0:0.6886:0.0:0.3114	rs1638299;rs4091279;rs7208720	664;715	Q17RC9;Q96QE4	.;LR37B_HUMAN	V	633;742;664;715	ENSP00000443345:A633V;ENSP00000332536:A742V;ENSP00000378202:A664V;ENSP00000340519:A715V	ENSP00000332536:A742V	A	+	2	0	LRRC37B	27396852	0.015000	0.18098	0.648000	0.29521	0.279000	0.26890	0.127000	0.15790	-0.021000	0.14009	-0.431000	0.05894	GCC	C|0.910;T|0.090	0.090	strong		0.433	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		T	30372739	C	T	30372739	3	4	22	1	0	0	0	0	1	0	0	0	8994	739	26	2	2174	2	LRRC37B	17	30372739	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	719855	30372739	50822471	8712	13820										
CDK5R1	8851	hgsc.bcm.edu	37	chr17	30815208	30815208	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgcttctgcagggctgGcaggaccagggcttcatcac	13	13	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:30815208G>A	ENST00000313401.3	+	2	1259	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	190					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			TGCAGGGCTGGCAGGACCAGG	0.652																																					p.W190X		Atlas-SNP	.											.	CDK5R1	30	.	0			c.G570A						PASS	.						68	71	70					17																	30815208		2203	4300	6503	SO:0001587	stop_gained	8851	exon2			GGGCTGGCAGGAC	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.570G>A	17.37:g.30815208G>A	ENSP00000318486:p.Trp190*	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	131	20	0.152672	NM_003885	E1P664|Q5U0G3	Nonsense_Mutation	SNP	ENST00000313401.3	37	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	43	10.067794	0.99329	.	.	ENSG00000176749	ENST00000313401	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2883	16.9953	0.86366	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000318486:W190X	W	+	3	0	CDK5R1	27839321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.609000	0.88269	0.557000	0.71058	TGG	.	.	none		0.652	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		A	30815208	G	A	30815208	4	1	22	1	0	0	0	0	0	1	0	0	3143	1212	42	2	572	2	CDK5R1	17	30815208	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	442469	30815208	50380002	8713	13821										
CCL11	6356	hgsc.bcm.edu	37	chr17	32612894	32612894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcagcccccaggggctcGctgggccaggtaagcccccc	12	19	1	0	rs1129844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:32612894G>A	ENST00000305869.3	+	1	208	c.67G>A	c.(67-69)Gct>Act	p.A23T		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	23			A -> T (in clone 53; dbSNP:rs1129844).		actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTCGCTGGGCCAGG	0.552													G|||	723	0.144369	0.084	0.1369	5008	,	,		17118	0.1974		0.17	False		,,,				2504	0.1503				p.A23T		Atlas-SNP	.											.	CCL11	12	.	0			c.G67A	GRCh37	CM072923	CCL11	M	rs1129844	PASS	.	G	THR/ALA	412,3994	204.1+/-226.4	21,370,1812	94	96	95		67	-1.5	0.5	17	dbSNP_86	95	1535,7065	288.9+/-299.0	135,1265,2900	yes	missense	CCL11	NM_002986.2	58	156,1635,4712	AA,AG,GG		17.8488,9.3509,14.97	benign	23/98	32612894	1947,11059	2203	4300	6503	SO:0001583	missense	6356	exon1			GGGCTCGCTGGGC	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.67G>A	17.37:g.32612894G>A	ENSP00000302234:p.Ala23Thr	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	28	16	0.571429	NM_002986	P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	CCDS11279.1	305	0.13965201465201466	47	0.09552845528455285	47	0.1298342541436464	88	0.15384615384615385	123	0.16226912928759896	G	11.38	1.621023	0.28889	0.093509	0.178488	ENSG00000172156	ENST00000305869	T	0.02812	4.15	4.48	-1.52	0.08637	Chemokine interleukin-8-like domain (1);	0.572486	0.15716	N	0.248132	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.33883	0.43	B	0.30179	0.112	T	0.49153	-0.8969	8	0.48119	T	0.1	.	5.8131	0.18477	0.2623:0.0:0.6012:0.1365	rs1129844;rs3188137;rs3744508;rs17412369;rs3744508	23	P51671	CCL11_HUMAN	T	23	ENSP00000302234:A23T	ENSP00000302234:A23T	A	+	1	0	CCL11	29637007	0.027000	0.19231	0.536000	0.28039	0.069000	0.16628	0.232000	0.17891	-0.280000	0.09154	-1.871000	0.00553	GCT	A|0.126;C|0.145;G|0.706;T|0.023	0.126	strong		0.552	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		A	32612894	G	A	32612894	3	1	22	1	0	0	0	0	1	0	0	0	2883	1087	38	1	69	1	CCL11	17	32612894	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1797686	32612894	48582316	8714	13822										
TMEM132E	124842	hgsc.bcm.edu	37	chr17	32962004	32962004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactggctggtggaggtcacCgacctagtcagtgacttcat	13	10	3	1	rs73988752	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:32962004C>T	ENST00000321639.5	+	8	1933	c.1605C>T	c.(1603-1605)acC>acT	p.T535T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	535						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGAGGTCACCGACCTAGTCA	0.622													C|||	435	0.086861	0.1929	0.0303	5008	,	,		15370	0.005		0.0358	False		,,,				2504	0.1207				p.T535T		Atlas-SNP	.											.	TMEM132E	122	.	0			c.C1605T						PASS	.	C		745,3661	300.4+/-286.3	61,623,1519	90	69	76		1605	-8	1	17	dbSNP_130	76	276,8324	104.6+/-165.6	4,268,4028	no	coding-synonymous	TMEM132E	NM_207313.1		65,891,5547	TT,TC,CC		3.2093,16.9088,7.8502		535/985	32962004	1021,11985	2203	4300	6503	SO:0001819	synonymous_variant	124842	exon8			GGTCACCGACCTA	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1605C>T	17.37:g.32962004C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_207313	Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	CCDS11283.1																																																																																			C|0.929;T|0.071	0.071	strong		0.622	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		T	32962004	C	T	32962004	2	4	22	1	0	0	0	0	0	0	0	1	16045	639	23	1		1	TMEM132E	17	32962004	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	349110	32962004	48233206	8715	13823										
RFFL	117584	hgsc.bcm.edu	37	chr17	33348541	33348541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggacaaggtggaggcaCgagtcctgtcctcctgggag	17	10	0	0	rs34747500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33348541C>T	ENST00000315249.7	-	3	662	c.440G>A	c.(439-441)cGt>cAt	p.R147H	RFFL_ENST00000413582.2_Missense_Mutation_p.R147H|RFFL_ENST00000268850.7_Missense_Mutation_p.R147H|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000378516.2_Missense_Mutation_p.R147H|RFFL_ENST00000415395.2_Missense_Mutation_p.R147H|RFFL_ENST00000447669.2_Missense_Mutation_p.R147H|RFFL_ENST00000394597.2_Missense_Mutation_p.R147H|RFFL_ENST00000584655.1_Missense_Mutation_p.R147H					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGTGGAGGCACGAGTCCTGTC	0.582													C|||	68	0.0135783	0.0356	0.0029	5008	,	,		19710	0.0188		0.0	False		,,,				2504	0.0				p.R147H		Atlas-SNP	.											.	RFFL	27	.	0			c.G440A						PASS	.	C	HIS/ARG	124,4282	91.6+/-130.3	3,118,2082	81	65	70		440	-4.3	0.4	17	dbSNP_126	70	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RFFL	NM_001017368.1	29	3,119,6381	TT,TC,CC		0.0116,2.8143,0.9611	benign	147/364	33348541	125,12881	2203	4300	6503	SO:0001583	missense	117584	exon3			GAGGCACGAGTCC	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.440G>A	17.37:g.33348541C>T	ENSP00000326170:p.Arg147His	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	138	65	0.471014	NM_001017368		Missense_Mutation	SNP	ENST00000315249.7	37	CCDS11286.1	31	0.014194139194139194	16	0.032520325203252036	1	0.0027624309392265192	14	0.024475524475524476	0	0.0	C	7.587	0.669935	0.14776	0.028143	1.16E-4	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46451	0.87;0.87;0.89;0.91;0.89;0.87	5.65	-4.35	0.03656	.	1.494590	0.03679	N	0.245226	T	0.14184	0.0343	L	0.46157	1.445	0.19300	N	0.999975	B;B;B;B	0.10296	0.003;0.003;0.002;0.003	B;B;B;B	0.10450	0.005;0.003;0.001;0.001	T	0.33497	-0.9866	10	0.45353	T	0.12	-0.0021	7.6995	0.28615	0.1025:0.4344:0.0:0.4631	rs34747500	147;147;147;147	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	H	147	ENSP00000326170:R147H;ENSP00000378096:R147H;ENSP00000367777:R147H;ENSP00000268850:R147H;ENSP00000408513:R147H;ENSP00000412322:R147H	ENSP00000268850:R147H	R	-	2	0	RFFL	30372654	0.000000	0.05858	0.450000	0.26969	0.123000	0.20343	-1.166000	0.03129	-0.526000	0.06383	-0.940000	0.02684	CGT	C|0.986;T|0.014	0.014	strong		0.582	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		T	33348541	C	T	33348541	3	4	22	1	0	0	0	0	1	0	0	0	13250	536	19	1	671	1	RFFL	17	33348541	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	386537	33348541	47846669	8716	13824										
RAD51L3	5892	hgsc.bcm.edu	37	chr17	33445549	33445549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtggacaggatggcagtGgaggtcttcagttcctcgta	14	9	2	0	rs9901455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33445549G>A	ENST00000345365.6	-	3	489	c.234C>T	c.(232-234)tcC>tcT	p.S78S	RAD51D_ENST00000394589.4_Silent_p.S78S|RAD51D_ENST00000460118.2_5'UTR|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Silent_p.S78S|RAD51D_ENST00000357906.3_Silent_p.S78S|RAD51D_ENST00000590380.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590016.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	78	Preferencially binds ssDNA.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGATGGCAGTGGAGGTCTTCA	0.587								Direct reversal of damage					G|||	939	0.1875	0.3517	0.1153	5008	,	,		16450	0.2262		0.0755	False		,,,				2504	0.092				p.S78S		Atlas-SNP	.											.	RAD51D	53	.	0			c.C234T						PASS	.	G	,,	1357,3049	451.0+/-349.5	209,939,1055	90	92	92		,234,	3.8	1	17	dbSNP_119	92	705,7895	173.6+/-224.1	25,655,3620	no	intron,coding-synonymous,intron	RAD51D	NM_001142571.1,NM_002878.3,NM_133629.2	,,	234,1594,4675	AA,AG,GG		8.1977,30.7989,15.8542	,,	,78/329,	33445549	2062,10944	2203	4300	6503	SO:0001819	synonymous_variant	5892	exon3			GGCAGTGGAGGTC	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"recombination repair protein", "DNA repair protein RAD51 homolog 4"	602954	"RAD51 (S. cerevisiae)-like 3", "RAD51-like 3 (S. cerevisiae)", "RAD51 homolog D (S. cerevisiae)"	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.234C>T	17.37:g.33445549G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_002878	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	CCDS11287.1																																																																																			G|0.828;A|0.172	0.172	strong		0.587	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		A	33445549	G	A	33445549	2	1	22	1	0	0	0	0	0	0	0	1	12990	1335	47	2		2	RAD51L3	17	33445549	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97008	33445549	47749661	8717	13825										
UNC45B	146862	hgsc.bcm.edu	37	chr17	33475426	33475426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccacgctttatcggaaCcgggcagcctgtggcctgaa	13	13	0	1	rs16970656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33475426C>T	ENST00000268876.5	+	2	241	c.144C>T	c.(142-144)aaC>aaT	p.N48N	UNC45B_ENST00000378449.1_Silent_p.N48N|UNC45B_ENST00000433649.1_Silent_p.N48N|UNC45B_ENST00000394570.2_Silent_p.N48N|UNC45B_ENST00000591048.1_Silent_p.N48N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	48					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TTTATCGGAACCGGGCAGCCT	0.637													C|||	90	0.0179712	0.0658	0.0043	5008	,	,		18215	0.0		0.0	False		,,,				2504	0.0				p.N48N		Atlas-SNP	.											.	UNC45B	133	.	0			c.C144T						PASS	.	C	,	259,4147	144.2+/-179.2	2,255,1946	54	51	52		144,144	1.8	1	17	dbSNP_123	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	UNC45B	NM_001033576.1,NM_173167.2	,	2,257,6244	TT,TC,CC		0.0233,5.8783,2.0068	,	48/930,48/932	33475426	261,12745	2203	4300	6503	SO:0001819	synonymous_variant	146862	exon2			TCGGAACCGGGCA	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.144C>T	17.37:g.33475426C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_001267052	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																			C|0.975;T|0.025	0.025	strong		0.637	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33475426	C	T	33475426	2	4	22	1	0	0	0	0	0	0	0	1	16986	506	18	2		2	UNC45B	17	33475426	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29877	33475426	47719784	8718	13826										
AMAC1	146861	hgsc.bcm.edu	37	chr17	33520904	33520904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagagtgaggacggcggaGcagacggtggaagaaccttt	17	7	0	4	rs61753879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33520904G>A	ENST00000297307.5	-	1	508	c.423C>T	c.(421-423)tgC>tgT	p.C141C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	141	EamA 1.					integral component of membrane (GO:0016021)											GGACGGCGGAGCAGACGGTGG	0.582													G|||	87	0.0173722	0.0635	0.0043	5008	,	,		19375	0.0		0.0	False		,,,				2504	0.0				p.C141C		Atlas-SNP	.											.	.	.	.	0			c.C423T						PASS	.	G		259,4147	148.4+/-182.8	5,249,1949	163	154	157		423		0.3	17	dbSNP_129	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35G3	NM_152462.2		5,250,6248	AA,AG,GG		0.0116,5.8783,1.9991		141/339	33520904	260,12746	2203	4300	6503	SO:0001819	synonymous_variant	146861	exon1			GGCGGAGCAGACG	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.423C>T	17.37:g.33520904G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	211	104	0.492891	NM_152462	B9EGE9	Silent	SNP	ENST00000297307.5	37	CCDS11293.1																																																																																			G|0.977;A|0.023	0.023	strong		0.582	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33520904	G	A	33520904	2	1	22	1	0	0	0	0	0	0	0	1	559	963	34	2		2	AMAC1	17	33520904	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45478	33520904	47674306	8719	13827										
SLFN12	55106	hgsc.bcm.edu	37	chr17	33738752	33738752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactggaggactgtcctgggAaatcagaagagcatcacaga	13	8	2	3	rs12946189	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33738752A>G	ENST00000394562.1	-	6	1865	c.1342T>C	c.(1342-1344)Tcc>Ccc	p.S448P	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.S448P|SLFN12_ENST00000304905.5_Missense_Mutation_p.S448P|RP11-686D22.8_ENST00000587012.1_RNA			Q8IYM2	SLN12_HUMAN	schlafen family member 12	448			S -> P (in dbSNP:rs12946189).				ATP binding (GO:0005524)	p.S448P(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTCCTGGGAAATCAGAAGA	0.483													A|||	195	0.0389377	0.115	0.0086	5008	,	,		17332	0.0317		0.002	False		,,,				2504	0.0031				p.S448P		Atlas-SNP	.											SLFN12,NS,malignant_melanoma,+1,3	SLFN12	56	3	1	Substitution - Missense(1)	stomach(1)	c.T1342C						PASS	.	A	PRO/SER	412,3994	198.4+/-222.2	24,364,1815	105	105	105		1342	-6.4	0	17	dbSNP_121	105	21,8579	15.3+/-51.7	0,21,4279	no	missense	SLFN12	NM_018042.3	74	24,385,6094	GG,GA,AA		0.2442,9.3509,3.3292	possibly-damaging	448/579	33738752	433,12573	2203	4300	6503	SO:0001583	missense	55106	exon4			CCTGGGAAATCAG	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1342T>C	17.37:g.33738752A>G	ENSP00000378063:p.Ser448Pro	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	274	123	0.448905	NM_018042	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	110	0.05036630036630037	73	0.1483739837398374	7	0.019337016574585635	26	0.045454545454545456	4	0.005277044854881266	A	13.88	2.370181	0.42003	0.093509	0.002442	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.04758	3.56;3.56;3.56	3.22	-6.44	0.01920	.	.	.	.	.	T	0.00039	0.0001	L	0.56769	1.78	0.80722	P	0.0	B	0.12630	0.006	B	0.06405	0.002	T	0.22695	-1.0209	8	0.72032	D	0.01	.	7.355	0.26714	0.1242:0.6183:0.1547:0.1028	rs12946189;rs52808777;rs12946189	448	Q8IYM2	SLN12_HUMAN	P	448	ENSP00000378063:S448P;ENSP00000302077:S448P;ENSP00000394903:S448P	ENSP00000302077:S448P	S	-	1	0	SLFN12	30762865	0.000000	0.05858	0.006000	0.13384	0.704000	0.40688	-1.754000	0.01816	-3.604000	0.00133	0.438000	0.28831	TCC	A|0.962;G|0.038	0.038	strong		0.483	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		G	33738752	A	G	33738752	3	3	22	1	0	0	0	0	1	0	0	0	14734	246	9	2	398	2	SLFN12	17	33738752	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	217848	33738752	47456458	8720	13828										
SLFN13	146857	hgsc.bcm.edu	37	chr17	33769211	33769211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attccctgggagaaaggtcgCatttgcttgtgtattaactc	10	8	0	1	rs77814846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:33769211C>T	ENST00000285013.6	-	5	1568	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	SLFN13_ENST00000526861.1_Missense_Mutation_p.M431I|SLFN13_ENST00000542635.1_Missense_Mutation_p.M431I|SLFN13_ENST00000533791.1_Missense_Mutation_p.M431I|SLFN13_ENST00000534689.1_Missense_Mutation_p.M113I|SLFN13_ENST00000360502.2_Missense_Mutation_p.M113I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	431						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGAAAGGTCGCATTTGCTTGT	0.488													C|||	74	0.0147764	0.053	0.0058	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0				p.M431I		Atlas-SNP	.											.	SLFN13	79	.	0			c.G1293A						PASS	.	C	ILE/MET	199,4207	124.9+/-162.1	3,193,2007	91	82	85		1293	-6.2	0	17	dbSNP_131	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLFN13	NM_144682.5	10	3,195,6305	TT,TC,CC		0.0233,4.5166,1.5454	benign	431/898	33769211	201,12805	2203	4300	6503	SO:0001583	missense	146857	exon5			AGGTCGCATTTGC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1293G>A	17.37:g.33769211C>T	ENSP00000285013:p.Met431Ile	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	155	76	0.490323	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	c	0.430	-0.903761	0.02453	0.045166	2.33E-4	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.16597	4.64;4.06;4.64;4.64;4.06;2.33	3.09	-6.17	0.02091	.	0.757041	0.12071	N	0.502241	T	0.00552	0.0018	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.0	T	0.36866	-0.9730	10	0.05525	T	0.97	.	1.256	0.01991	0.1521:0.2533:0.1508:0.4438	.	113;431	Q68D06-2;Q68D06	.;SLN13_HUMAN	I	431;113;431;431;113;100	ENSP00000285013:M431I;ENSP00000353692:M113I;ENSP00000434439:M431I;ENSP00000444016:M431I;ENSP00000435442:M113I;ENSP00000435328:M100I	ENSP00000285013:M431I	M	-	3	0	SLFN13	30793324	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.875000	0.04205	-1.010000	0.03396	0.205000	0.17691	ATG	C|0.987;T|0.013	0.013	strong		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		T	33769211	C	T	33769211	3	4	22	1	0	0	0	0	1	0	0	0	14736	710	25	2	1408	2	SLFN13	17	33769211	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30459	33769211	47425999	8721	13829										
C17orf50	146853	hgsc.bcm.edu	37	chr17	34091078	34091078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagctccgggccgaggaCgcggagcaagaggaagggaa	19	8	0	2	rs4795087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34091078C>G	ENST00000285023.4	+	2	98	c.66C>G	c.(64-66)gaC>gaG	p.D22E	C17orf50_ENST00000588628.1_Missense_Mutation_p.R30G|C17orf50_ENST00000586491.1_Missense_Mutation_p.D22E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	22			D -> E (in dbSNP:rs4795087).										Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGCCgaggacgcggagcaag	0.687													G|||	1685	0.336462	0.5386	0.2392	5008	,	,		9553	0.3214		0.166	False		,,,				2504	0.3231				p.D22E		Atlas-SNP	.											.	C17orf50	4	.	0			c.C66G						PASS	.	G	GLU/ASP	1258,1838		253,752,543	10	15	13		66	4.2	0.1	17	dbSNP_111	13	912,5596		59,794,2401	yes	missense	C17orf50	NM_145272.3	45	312,1546,2944	GG,GC,CC		14.0135,40.6331,22.5948	benign	22/175	34091078	2170,7434	1548	3254	4802	SO:0001583	missense	146853	exon2			CGAGGACGCGGAG	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.66C>G	17.37:g.34091078C>G	ENSP00000285023:p.Asp22Glu	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	65	35	0.538462	NM_145272	Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	CCDS42298.1	656	0.30036630036630035	248	0.5040650406504065	91	0.2513812154696133	184	0.32167832167832167	133	0.17546174142480211	G	6.960	0.546998	0.13312	0.406331	0.140135	ENSG00000154768	ENST00000285023	T	0.30448	1.53	5.16	4.15	0.48705	.	0.401992	0.18332	N	0.144463	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45498	-0.9257	9	0.02654	T	1	-15.876	8.7171	0.34419	0.0:0.1646:0.6647:0.1708	rs4795087	22	Q8WW18	CQ050_HUMAN	E	22	ENSP00000285023:D22E	ENSP00000285023:D22E	D	+	3	2	C17orf50	31115191	0.289000	0.24334	0.057000	0.19452	0.345000	0.29048	0.169000	0.16641	1.181000	0.42912	-0.215000	0.12644	GAC	C|0.698;G|0.302	0.302	strong		0.687	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		G	34091078	C	G	34091078	3	3	22	1	0	0	0	0	1	0	0	0	1861	535	19	4	72	4	C17orf50	17	34091078	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	321867	34091078	47104132	8722	13830										
C17orf50	146853	hgsc.bcm.edu	37	chr17	34091130	34091130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgaggacgaggacaacCagaggccgctggaggacagc	17	10	0	1	rs140052043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34091130C>A	ENST00000285023.4	+	2	150	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	C17orf50_ENST00000588628.1_Missense_Mutation_p.P47Q|C17orf50_ENST00000586491.1_Missense_Mutation_p.Q40K	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	40													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		cgaggaCAACCAGAGGCCGCT	0.692													C|||	43	0.00858626	0.0318	0.0014	5008	,	,		9618	0.0		0.0	False		,,,				2504	0.0				p.Q40K		Atlas-SNP	.											.	C17orf50	4	.	0			c.C118A						PASS	.	C	LYS/GLN	73,3255		1,71,1592	8	13	11		118	-3.7	0	17	dbSNP_134	11	2,6858		0,2,3428	yes	missense	C17orf50	NM_145272.3	53	1,73,5020	AA,AC,CC		0.0292,2.1935,0.7362	benign	40/175	34091130	75,10113	1664	3430	5094	SO:0001583	missense	146853	exon2			GACAACCAGAGGC	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.118C>A	17.37:g.34091130C>A	ENSP00000285023:p.Gln40Lys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	76	34	0.447368	NM_145272	Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	CCDS42298.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	C	6.499	0.460290	0.12342	0.021935	2.92E-4	ENSG00000154768	ENST00000285023	T	0.42513	0.97	1.86	-3.72	0.04411	.	.	.	.	.	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.20571	-1.0271	9	0.54805	T	0.06	-3.6237	0.4196	0.00454	0.216:0.2495:0.3138:0.2207	.	40	Q8WW18	CQ050_HUMAN	K	40	ENSP00000285023:Q40K	ENSP00000285023:Q40K	Q	+	1	0	C17orf50	31115243	0.000000	0.05858	0.016000	0.15963	0.022000	0.10575	-0.033000	0.12246	-0.319000	0.08652	-0.502000	0.04539	CAG	C|0.993;A|0.007	0.007	strong		0.692	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		A	34091130	C	A	34091130	3	1	22	1	0	0	0	0	1	0	0	0	1861	595	21	4	124	4	C17orf50	17	34091130	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52	34091130	47104080	8723	13831										
LYZL6	57151	hgsc.bcm.edu	37	chr17	34264859	34264859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccatagtcaaagcttccAtctgcattttcatttatctt	5	10	4	0	rs2280783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34264859A>G	ENST00000585556.1	-	3	535	c.201T>C	c.(199-201)gaT>gaC	p.D67D	LYZL6_ENST00000293274.4_Silent_p.D67D|LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.D67D			O75951	LYZL6_HUMAN	lysozyme-like 6	67					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.D67D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAAGCTTCCATCTGCATTTT	0.448													A|||	647	0.129193	0.2247	0.0994	5008	,	,		23330	0.0972		0.1302	False		,,,				2504	0.0532				p.D67D		Atlas-SNP	.											LYZL6,NS,carcinoma,0,1	LYZL6	18	1	1	Substitution - coding silent(1)	stomach(1)	c.T201C						PASS	.	A	,	894,3512	346.9+/-309.2	92,710,1401	103	101	101		201,201	-3.1	0.3	17	dbSNP_100	101	1144,7456	235.8+/-268.3	71,1002,3227	no	coding-synonymous,coding-synonymous	LYZL6	NM_001199951.1,NM_020426.2	,	163,1712,4628	GG,GA,AA		13.3023,20.2905,15.6697	,	67/149,67/149	34264859	2038,10968	2203	4300	6503	SO:0001819	synonymous_variant	57151	exon2			GCTTCCATCTGCA	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.201T>C	17.37:g.34264859A>G		Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_020426	Q6UW30	Silent	SNP	ENST00000585556.1	37	CCDS11302.1																																																																																			A|0.847;G|0.153	0.153	strong		0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		G	34264859	A	G	34264859	2	3	22	1	0	0	0	0	0	0	0	1	9134	214	8	2		2	LYZL6	17	34264859	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	173729	34264859	46930351	8724	13832										
CCL16	6360	hgsc.bcm.edu	37	chr17	34304680	34304680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaagttcctggtaggcagCaaaggtaggttgggatcctt	14	7	0	0	rs74842203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34304680C>T	ENST00000293275.3	-	3	360	c.285G>A	c.(283-285)ttG>ttA	p.L95L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	95					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTAGGCAGCAAAGGTAGGT	0.512													C|||	358	0.0714856	0.087	0.0303	5008	,	,		16505	0.0427		0.0268	False		,,,				2504	0.1554				p.L95L		Atlas-SNP	.											.	CCL16	7	.	0			c.G285A						PASS	.	C		290,4116	160.7+/-193.0	13,264,1926	216	188	197		285	4.9	0	17	dbSNP_132	197	214,8386	90.9+/-153.0	1,212,4087	no	coding-synonymous	CCL16	NM_004590.2		14,476,6013	TT,TC,CC		2.4884,6.5819,3.8751		95/121	34304680	504,12502	2203	4300	6503	SO:0001819	synonymous_variant	6360	exon3			AGGCAGCAAAGGT	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"Chemokine ligands", "Endogenous ligands"	10614	protein-coding gene	gene with protein product		601394	"small inducible cytokine subfamily A (Cys-Cys), member 16"	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.285G>A	17.37:g.34304680C>T		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	268	137	0.511194	NM_004590	Q4KKU0	Silent	SNP	ENST00000293275.3	37	CCDS11303.1																																																																																			C|0.959;T|0.041	0.041	strong		0.512	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		T	34304680	C	T	34304680	2	4	22	1	0	0	0	0	0	0	0	1	2887	709	25	2		2	CCL16	17	34304680	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39821	34304680	46890530	8725	13833										
CCL14	6358	hgsc.bcm.edu	37	chr17	34313612	34313612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcattgcactcacgtgagGaggattcagtcttggtccct	12	10	3	1	rs75238886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34313612G>A	ENST00000394509.4	-	1	182	c.74C>T	c.(73-75)tCc>tTc	p.S25F	CCL14_ENST00000536149.1_Missense_Mutation_p.S25F|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CTB-186H2.3_ENST00000591669.1_Missense_Mutation_p.E20K|CCL14_ENST00000586216.1_Missense_Mutation_p.S25F|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000435911.2_Missense_Mutation_p.S25F			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	25					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCACGTGAGGAGGATTCAGT	0.562													G|||	128	0.0255591	0.0197	0.0144	5008	,	,		16475	0.0466		0.0368	False		,,,				2504	0.0082				p.S25F		Atlas-SNP	.											.	CCL14	22	.	0			c.C74T						PASS	.	G	PHE/SER,PHE/SER	103,4303	81.9+/-120.4	1,101,2101	203	145	164		74,74	1.5	0	17	dbSNP_132	164	253,8347	99.9+/-161.4	0,253,4047	yes	missense,missense	CCL14	NM_032962.4,NM_032963.3	155,155	1,354,6148	AA,AG,GG		2.9419,2.3377,2.7372	probably-damaging,probably-damaging	25/110,25/94	34313612	356,12650	2203	4300	6503	SO:0001583	missense	6358	exon1			CGTGAGGAGGATT	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.74C>T	17.37:g.34313612G>A	ENSP00000378017:p.Ser25Phe	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	131	71	0.541985	NM_032962	E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	CCDS32624.1	65	0.02976190476190476	10	0.02032520325203252	6	0.016574585635359115	19	0.033216783216783216	30	0.0395778364116095	G	13.77	2.335048	0.41398	0.023377	0.029419	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.03831	4.14;3.79;3.79	4.74	1.52	0.23074	Chemokine interleukin-8-like domain (1);	0.920382	0.09005	U	0.862372	T	0.02119	0.0066	.	.	.	0.09310	N	1	D;D	0.57571	0.965;0.98	P;P	0.55303	0.598;0.773	T	0.34750	-0.9816	9	0.42905	T	0.14	.	7.2842	0.26328	0.0:0.1675:0.4863:0.3462	.	25;25	Q16627;Q16627-2	CCL14_HUMAN;.	F	25	ENSP00000378017:S25F;ENSP00000441771:S25F;ENSP00000409197:S25F	ENSP00000378017:S25F	S	-	2	0	CCL14	31337725	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	1.387000	0.34430	0.180000	0.19960	-0.302000	0.09304	TCC	G|0.973;A|0.027	0.027	strong		0.562	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		A	34313612	G	A	34313612	3	1	22	1	0	0	0	0	1	0	0	0	2885	1174	41	2	271	2	CCL14	17	34313612	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8932	34313612	46881598	8726	13834										
CCL18	6362	hgsc.bcm.edu	37	chr17	34391721	34391721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatgaagggccttgcagctGccctccttgtcctcgtctgc	10	15	2	1	rs73290772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34391721G>A	ENST00000004921.3	+	1	82	c.19G>A	c.(19-21)Gcc>Acc	p.A7T		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	7					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTTGCAGCTGCCCTCCTTGT	0.587													G|||	32	0.00638978	0.0227	0.0014	5008	,	,		20323	0.0		0.001	False		,,,				2504	0.0				p.A7T		Atlas-SNP	.											.	CCL18	9	.	0			c.G19A						PASS	.	G	THR/ALA	83,4323	70.9+/-108.8	1,81,2121	175	144	154		19	-4.2	0	17	dbSNP_130	154	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CCL18	NM_002988.2	58	1,85,6417	AA,AG,GG		0.0465,1.8838,0.6689	possibly-damaging	7/90	34391721	87,12919	2203	4300	6503	SO:0001583	missense	6362	exon1			GCAGCTGCCCTCC	Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"Chemokine ligands"	10616	protein-coding gene	gene with protein product		603757	"small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.19G>A	17.37:g.34391721G>A	ENSP00000004921:p.Ala7Thr	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	150	74	0.493333	NM_002988	B5BUM2|Q53X71	Missense_Mutation	SNP	ENST00000004921.3	37	CCDS11306.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	15.95	2.982703	0.53827	0.018838	4.65E-4	ENSG00000006074	ENST00000004921	T	0.03468	3.92	4.63	-4.23	0.03789	.	0.749621	0.12687	N	0.447482	T	0.02418	0.0074	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.53954	0.738	T	0.10382	-1.0632	9	0.37606	T	0.19	.	5.6346	0.17530	0.3533:0.0:0.5254:0.1213	.	7	P55774	CCL18_HUMAN	T	7	ENSP00000004921:A7T	ENSP00000004921:A7T	A	+	1	0	CCL18	31415834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-0.814000	0.04352	-0.311000	0.09066	GCC	G|0.994;A|0.006	0.006	strong		0.587	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256583.1	NM_002988		A	34391721	G	A	34391721	3	1	22	1	0	0	0	0	1	0	0	0	2889	1319	46	2	21	2	CCL18	17	34391721	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78109	34391721	46803489	8727	13835										
CCL4L1	388372	hgsc.bcm.edu	37	chr17	34641448	34641448	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtctgctccttgttctacAgattccaaaccaaaagaggc	7	12	2	2	rs184899362		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000482104.1_3'UTR			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522																																					.		Atlas-SNP	.											CCL4L2,NS,carcinoma,0,1	.	.	1	1	Unknown(1)	endometrium(1)	c.192-2A>G						scavenged	.						219	152	175					17																	34641448		2159	4154	6313	SO:0001630	splice_region_variant	9560	exon3			TTCTACAGATTCC			17q12	2005-08-09			ENSG00000197262			"Chemokine ligands"	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-1A>G	17.37:g.34641448A>G		Somatic	871	0	0		WXS	Illumina HiSeq	Phase_I	334	28	0.0838323	NM_001001435	B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Splice_Site	SNP	ENST00000394465.2	37	CCDS11311.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	N	11.83	1.756201	0.31137	.	.	ENSG00000197262	ENST00000394465;ENST00000339270	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8193	0.29278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCL4L2	31665561	1.000000	0.71417	0.994000	0.49952	0.682000	0.39822	4.719000	0.61937	1.074000	0.40909	0.344000	0.21773	.	G|1.000;|0.000	1.000	weak		0.522	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007	Intron	G	34641448	A	G	34641448	5	3	22	1	0	0	0	0	0	0	1	0	2903	202	7	3	491	3	CCL4L1	17	34641448	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	249727	34641448	46553762	8728	13836										
MYO19	80179	hgsc.bcm.edu	37	chr17	34856697	34856697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagcatgacggcccgccActgccgctcctgctctcggt	12	16	1	2	rs56919948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34856697A>G	ENST00000431794.3	-	23	2872	c.2350T>C	c.(2350-2352)Tgg>Cgg	p.W784R	MYO19_ENST00000268852.9_Missense_Mutation_p.W584R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	784	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACGGCCCGCCACTGCCGCTCC	0.637													G|||	28	0.00559105	0.0204	0.0014	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.0				p.W784R		Atlas-SNP	.											.	MYO19	130	.	0			c.T2350C						PASS	.	G	ARG/TRP,ARG/TRP	74,4174		1,72,2051	14	18	17		2350,1750	2.8	0.4	17	dbSNP_129	17	0,8448		0,0,4224	yes	missense,missense	MYO19	NM_001163735.1,NM_025109.5	101,101	1,72,6275	GG,GA,AA		0.0,1.742,0.5829	benign,benign	784/971,584/771	34856697	74,12622	2124	4224	6348	SO:0001583	missense	80179	exon24			CCCGCCACTGCCG	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2350T>C	17.37:g.34856697A>G	ENSP00000409936:p.Trp784Arg	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	72	26	0.361111	NM_001163735	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	G	0.005	-2.234560	0.00277	0.01742	0.0	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.53640	0.61;0.61	5.12	2.82	0.32997	.	0.000000	0.42548	N	0.000694	T	0.04770	0.0129	N	0.00197	-1.87	0.24385	N	0.994776	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33727	-0.9857	10	0.05959	T	0.93	.	6.7399	0.23431	0.1403:0.0:0.3167:0.543	rs56919948;rs61753952	784;584	Q96H55;Q96H55-4	MYO19_HUMAN;.	R	784;584	ENSP00000409936:W784R;ENSP00000268852:W584R	ENSP00000268852:W584R	W	-	1	0	MYO19	31930810	0.989000	0.36119	0.423000	0.26634	0.007000	0.05969	1.804000	0.38873	0.033000	0.15463	-1.507000	0.00952	TGG	A|0.996;G|0.004	0.004	strong		0.637	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		G	34856697	A	G	34856697	3	3	22	1	0	0	0	0	1	0	0	0	10067	159	6	2	578	2	MYO19	17	34856697	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	215249	34856697	46338513	8729	13837										
MYO19	80179	hgsc.bcm.edu	37	chr17	34858985	34858985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcggggccagaggatgtgcAaggatgaagccttcttagta	15	7	1	2	rs61743158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34858985A>G	ENST00000431794.3	-	21	2554	c.2032T>C	c.(2032-2034)Tgc>Cgc	p.C678R	MYO19_ENST00000268852.9_Missense_Mutation_p.C478R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	678	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGATGTGCAAGGATGAAGC	0.493													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		18666	0.0		0.0	False		,,,				2504	0.0				p.C678R		Atlas-SNP	.											.	MYO19	130	.	0			c.T2032C						PASS	.	G	ARG/CYS,ARG/CYS	77,3859		3,71,1894	191	202	198		2032,1432	4.3	0.6	17	dbSNP_129	198	0,8298		0,0,4149	yes	missense,missense	MYO19	NM_001163735.1,NM_025109.5	180,180	3,71,6043	GG,GA,AA		0.0,1.9563,0.6294	benign,benign	678/971,478/771	34858985	77,12157	1968	4149	6117	SO:0001583	missense	80179	exon22			ATGTGCAAGGATG	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2032T>C	17.37:g.34858985A>G	ENSP00000409936:p.Cys678Arg	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	154	65	0.422078	NM_001163735	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	G	4.905	0.168151	0.09339	0.019563	0.0	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.94966	-3.57;-3.57	5.25	4.27	0.50696	Myosin head, motor domain (1);	.	.	.	.	T	0.70141	0.3190	N	0.00926	-1.1	0.23515	N	0.997514	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67360	-0.5690	9	0.23302	T	0.38	.	7.8717	0.29569	0.0883:0.1733:0.7385:0.0	.	678;478	Q96H55;Q96H55-4	MYO19_HUMAN;.	R	678;478	ENSP00000409936:C678R;ENSP00000268852:C478R	ENSP00000268852:C478R	C	-	1	0	MYO19	31933098	0.261000	0.24063	0.559000	0.28332	0.034000	0.12701	1.018000	0.30002	0.706000	0.31912	-0.213000	0.12676	TGC	A|0.995;G|0.005	0.005	strong		0.493	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		G	34858985	A	G	34858985	3	3	22	1	0	0	0	0	1	0	0	0	10067	130	5	2	904	2	MYO19	17	34858985	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2288	34858985	46336225	8730	13838										
MYO19	80179	hgsc.bcm.edu	37	chr17	34859831	34859831	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatatggatggtctccacGaggccacaggcctccagctg	12	13	1	1	rs73276768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34859831G>A	ENST00000431794.3	-	20	2457	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	MYO19_ENST00000268852.9_Silent_p.L445L	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	645	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGTCTCCACGAGGCCACAGG	0.632													G|||	22	0.00439297	0.0166	0.0	5008	,	,		18572	0.0		0.0	False		,,,				2504	0.0				p.L645L		Atlas-SNP	.											.	MYO19	130	.	0			c.C1935T						PASS	.	G	,	68,4038		3,62,1988	17	21	19		1935,1335	-11.3	0.9	17	dbSNP_130	19	1,8385		0,1,4192	no	coding-synonymous,coding-synonymous	MYO19	NM_001163735.1,NM_025109.5	,	3,63,6180	AA,AG,GG		0.0119,1.6561,0.5524	,	645/971,445/771	34859831	69,12423	2053	4193	6246	SO:0001819	synonymous_variant	80179	exon21			CTCCACGAGGCCA	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1935C>T	17.37:g.34859831G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	19	0.422222	NM_001163735	Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	CCDS54112.1																																																																																			G|0.996;A|0.004	0.004	strong		0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		A	34859831	G	A	34859831	2	1	22	1	0	0	0	0	0	0	0	1	10067	1045	37	1		1	MYO19	17	34859831	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	846	34859831	46335379	8731	13839										
MRM1	79154	hgsc.bcm.edu	37	chr17	34958531	34958531	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccgaggcgcgggacattCcagttctgcggcccagacgg	16	13	1	1	rs60978234	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34958531C>T	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.P98S|MRM1_ENST00000585770.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GCGGGACATTCCAGTTCTGCG	0.701													C|||	23	0.00459265	0.0166	0.0	5008	,	,		15249	0.0		0.001	False		,,,				2504	0.0				p.P98S		Atlas-SNP	.											MRM1,NS,haematopoietic_neoplasm,-2,1	MRM1	19	1	0			c.C292T						PASS	.	C	SER/PRO	68,4320		1,66,2127	22	26	24		292	4.9	1	17	dbSNP_129	24	0,8576		0,0,4288	yes	missense	MRM1	NM_024864.3	74	1,66,6415	TT,TC,CC		0.0,1.5497,0.5245	probably-damaging	98/354	34958531	68,12896	2194	4288	6482	SO:0001628	intergenic_variant	79922	exon1			GACATTCCAGTTC		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958531C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	21	8	0.380952	NM_024864	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	CCDS11315.2	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	14.72	2.620552	0.46736	0.015497	0.0	ENSG00000129282	ENST00000250156	T	0.28666	1.6	4.9	4.9	0.64082	RNA 2-O ribose methyltransferase, substrate binding (2);	0.065831	0.64402	D	0.000006	T	0.21509	0.0518	M	0.69463	2.115	0.80722	D	1	B	0.32968	0.392	B	0.42062	0.374	T	0.07139	-1.0788	10	0.07175	T	0.84	-13.0363	15.1676	0.72840	0.0:1.0:0.0:0.0	rs60978234	98	Q6IN84	MRM1_HUMAN	S	98	ENSP00000250156:P98S	ENSP00000250156:P98S	P	+	1	0	MRM1	32032644	0.845000	0.29573	0.969000	0.41365	0.561000	0.35649	3.772000	0.55325	2.423000	0.82170	0.555000	0.69702	CCA	C|0.993;T|0.007	0.007	strong		0.701	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		T	34958531	C	T	34958531	1	4	22	0	1	0	0	0	0	0	0	0	9771	855	30	2		2	MRM1	17	34958531	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	98700	34958531	46236679	8732	13840										
MRM1	79154	hgsc.bcm.edu	37	chr17	34958760	34958761	+	IGR	INS	-	-	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctcggagtggataaggtINScatcaccagccggagaaaca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:34958760_34958761insG	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Frame_Shift_Ins_p.I175fs|MRM1_ENST00000585770.1_Intron	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GTGGATAAGGTCATCACCAGCC	0.594																																					p.V174fs		Pindel,Atlas-Indel	.											.	MRM1	19	.	0			c.521_522insG						PASS	.																																			SO:0001628	intergenic_variant	79922	exon1			.		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958760_34958761insG		Somatic	29	.	.		WXS	Illumina HiSeq	Phase_I	33	12	0.364	NM_024864	B2RDZ3|Q9BUC7|Q9H674	Frame_Shift_Ins	INS	ENST00000251312.5	37	CCDS11315.2																																																																																			.	.	none		0.594	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		G	34958761	-	G	34958760	6	5	22	0	1	1	1	0	0	0	0	0	9771	1667	58	0		0	MRM1	17	34958760	IGR	INS	-	TCGA-G8-6324-01A-11D-2210-10	229	34958760	46236450	8733	13841										
ACACA	31	hgsc.bcm.edu	37	chr17	35470031	35470031	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcacgctacctgctttcTcggtcagcatacatctccat	7	14	3	0	rs55811414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:35470031T>G	ENST00000394406.2	-	51	6523	c.6333A>C	c.(6331-6333)cgA>cgC	p.R2111R	ACACA_ENST00000353139.5_Silent_p.R2148R|ACACA_ENST00000335166.5_Silent_p.R2033R|ACACA_ENST00000360679.3_Silent_p.R2053R|ACACA_ENST00000361253.5_Silent_p.R237R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2111	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACCTGCTTTCTCGGTCAGCAT	0.552													T|||	221	0.0441294	0.149	0.0274	5008	,	,		19920	0.0		0.004	False		,,,				2504	0.001				p.R2148R	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Atlas-SNP	.											.	ACACA	395	.	0			c.A6444C						PASS	.	T	,,,,	461,3945	218.4+/-236.5	26,409,1768	82	71	75		6444,6333,6159,6099,6333	-1.6	1	17	dbSNP_129	75	32,8568	21.6+/-65.8	0,32,4268	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACACA	NM_198834.1,NM_198836.1,NM_198837.1,NM_198838.1,NM_198839.1	,,,,	26,441,6036	GG,GT,TT		0.3721,10.463,3.7906	,,,,	2148/2384,2111/2347,2053/2289,2033/2269,2111/2347	35470031	493,12513	2203	4300	6503	SO:0001819	synonymous_variant	31	exon51			GCTTTCTCGGTCA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6333A>C	17.37:g.35470031T>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	124	57	0.459677	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																			G|0.034;T|0.966	0.034	strong		0.552	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35470031	T	G	35470031	2	3	22	1	0	0	0	0	0	0	0	1	106	1538	54	5		5	ACACA	17	35470031	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	511271	35470031	45725179	8734	13842										
C17orf78	284099	hgsc.bcm.edu	37	chr17	35743010	35743010	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagagacttttcccaccaCtgccccttctataactcctg	4	16	2	1	rs1714987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:35743010C>G	ENST00000300618.4	+	4	505	c.455C>G	c.(454-456)aCt>aGt	p.T152S	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|RP11-378E13.3_ENST00000592238.1_RNA|ACACA_ENST00000589665.1_5'Flank	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	152			T -> S (in dbSNP:rs1714987). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)		p.T152S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TTTCCCACCACTGCCCCTTCT	0.388													C|||	1584	0.316294	0.2526	0.2493	5008	,	,		15541	0.5377		0.1918	False		,,,				2504	0.3497				p.T152S		Atlas-SNP	.											C17orf78,NS,carcinoma,0,1	C17orf78	23	1	1	Substitution - Missense(1)	stomach(1)	c.C455G						PASS	.	C	SER/THR,,	875,2713		118,639,1037	54	49	51		455,,	1.9	0	17	dbSNP_89	51	1471,6647		146,1179,2734	yes	missense,intron,intron	ACACA,C17orf78	NM_173625.3,NM_198834.1,NM_198839.1	58,,	264,1818,3771	GG,GC,CC		18.1202,24.3868,20.041	possibly-damaging,,	152/276,,	35743010	2346,9360	1794	4059	5853	SO:0001583	missense	284099	exon4			CCACCACTGCCCC	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.455C>G	17.37:g.35743010C>G	ENSP00000300618:p.Thr152Ser	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_173625	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	695	0.3182234432234432	145	0.29471544715447157	91	0.2513812154696133	316	0.5524475524475524	143	0.18865435356200527	C	8.831	0.940004	0.18281	0.243868	0.181202	ENSG00000167230	ENST00000300618	T	0.48201	0.82	4.94	1.87	0.25490	.	0.660665	0.13966	N	0.350483	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	B	0.15930	0.015	B	0.16289	0.015	T	0.46775	-0.9167	9	0.26408	T	0.33	-1.6736	7.1964	0.25855	0.0:0.7231:0.0:0.2769	rs1714987;rs17846097;rs17859100;rs52823794;rs57014482;rs1714987	152	Q8N4C9	CQ078_HUMAN	S	152	ENSP00000300618:T152S	ENSP00000300618:T152S	T	+	2	0	C17orf78	32817123	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.114000	0.10757	0.375000	0.24679	0.655000	0.94253	ACT	C|0.700;G|0.300	0.300	strong		0.388	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		G	35743010	C	G	35743010	3	3	22	1	0	0	0	0	1	0	0	0	1883	565	20	4	469	4	C17orf78	17	35743010	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	272979	35743010	45452200	8735	13843										
TADA2A	6871	hgsc.bcm.edu	37	chr17	35771468	35771468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaatggaccgtttgggtCcctttagcagtaagtacagt	13	7	0	0	rs7211875|rs112855394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:35771468C>T	ENST00000394395.2	+	2	189	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	TADA2A_ENST00000586023.1_Missense_Mutation_p.P6S|TADA2A_ENST00000225396.6_Missense_Mutation_p.P6S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P6S|RP11-378E13.4_ENST00000590364.1_RNA	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	6			P -> S (in dbSNP:rs7211875). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8552087, ECO:0000269|Ref.2}.		chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCGTTTGGGTCCCTTTAGCAG	0.473													T|||	4281	0.854832	0.9539	0.8761	5008	,	,		18736	0.7391		0.83	False		,,,				2504	0.8507				p.P6S		Atlas-SNP	.											.	TADA2A	91	.	0			c.C16T						PASS	.	T	SER/PRO,SER/PRO,SER/PRO	4105,301	166.2+/-197.5	1910,285,8	141	131	135		16,16,16	4.8	1	17	dbSNP_116	135	7381,1219	247.2+/-275.4	3173,1035,92	yes	missense,missense,missense	TADA2A	NM_001166105.1,NM_001488.3,NM_133439.2	74,74,74	5083,1320,100	TT,TC,CC		14.1744,6.8316,11.6869	benign,benign,benign	6/444,6/444,6/306	35771468	11486,1520	2203	4300	6503	SO:0001583	missense	6871	exon2			TTGGGTCCCTTTA	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.16C>T	17.37:g.35771468C>T	ENSP00000377918:p.Pro6Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_001488	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	1844	0.8443223443223443	472	0.959349593495935	317	0.8756906077348067	428	0.7482517482517482	627	0.8271767810026385	T	3.765	-0.048816	0.07407	0.931684	0.858256	ENSG00000108264	ENST00000394395;ENST00000225396;ENST00000417170	T;T;T	0.26957	2.15;2.15;1.7	4.79	4.79	0.61399	.	0.113042	0.64402	N	0.000006	T	0.00012	0.0000	N	0.03115	-0.41	0.51012	P	9.499999999995623E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41378	-0.9512	9	0.02654	T	1	15.1675	7.4762	0.27378	0.0:0.0969:0.0:0.9031	rs7211875;rs17138764;rs17856035;rs17856372;rs52814727;rs56878335;rs7211875	6;6	O75478-2;O75478	.;TAD2A_HUMAN	S	6	ENSP00000377918:P6S;ENSP00000225396:P6S;ENSP00000406699:P6S	ENSP00000225396:P6S	P	+	1	0	TADA2A	32845581	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.970000	0.40520	0.986000	0.38683	-0.368000	0.07277	CCC	C|0.135;N|0.000	.	strong		0.473	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		T	35771468	C	T	35771468	3	4	22	1	0	0	0	0	1	0	0	0	15507	855	30	2	18	2	TADA2A	17	35771468	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28458	35771468	45423742	8736	13844										
TADA2A	6871	hgsc.bcm.edu	37	chr17	35830554	35830554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgggaggaagagcgccttAaacgcactatgctctcagaa	11	11	1	2	rs142392695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:35830554A>C	ENST00000394395.2	+	13	1119	c.946A>C	c.(946-948)Aaa>Caa	p.K316Q	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.K316Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	316					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AGAGCGCCTTAAACGCACTAT	0.507													A|||	16	0.00319489	0.0121	0.0	5008	,	,		16970	0.0		0.0	False		,,,				2504	0.0				p.K316Q		Atlas-SNP	.											.	TADA2A	91	.	0			c.A946C						PASS	.	A	GLN/LYS,GLN/LYS	52,4354	52.9+/-88.7	0,52,2151	143	135	138		946,946	5.6	1	17	dbSNP_134	138	0,8600		0,0,4300	yes	missense,missense	TADA2A	NM_001166105.1,NM_001488.3	53,53	0,52,6451	CC,CA,AA		0.0,1.1802,0.3998	possibly-damaging,possibly-damaging	316/444,316/444	35830554	52,12954	2203	4300	6503	SO:0001583	missense	6871	exon13			CGCCTTAAACGCA	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.946A>C	17.37:g.35830554A>C	ENSP00000377918:p.Lys316Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_001488	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	A	25.5	4.644355	0.87859	0.011802	0.0	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.43294	0.95;0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.14661	0.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	T	0.05194	-1.0900	10	0.16420	T	0.52	-20.0499	15.8074	0.78524	1.0:0.0:0.0:0.0	.	316	O75478	TAD2A_HUMAN	Q	316;215;316	ENSP00000377918:K316Q;ENSP00000225396:K316Q	ENSP00000225396:K316Q	K	+	1	0	TADA2A	32904667	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.946000	0.92992	2.127000	0.65507	0.533000	0.62120	AAA	A|0.996;C|0.004	0.004	strong		0.507	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		C	35830554	A	C	35830554	3	2	22	1	0	0	0	0	1	0	0	0	15507	363	13	5	1087	5	TADA2A	17	35830554	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59086	35830554	45364656	8737	13845										
GPR179	440435	hgsc.bcm.edu	37	chr17	36482372	36482372	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaatcccaaggatagacAgtgggaggggtgaattcttc	12	9	1	2	rs58740367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36482372A>C	ENST00000342292.4	-	11	7100	c.7080T>G	c.(7078-7080)acT>acG	p.T2360T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2360					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGGATAGACAGTGGGAGGGG	0.498													A|||	291	0.058107	0.2148	0.0101	5008	,	,		20612	0.0		0.0	False		,,,				2504	0.0				p.T2360T		Atlas-SNP	.											.	GPR179	170	.	0			c.T7080G						PASS	.	A		644,3154		58,528,1313	73	67	69		7080	1.3	0.1	17	dbSNP_129	69	3,8259		0,3,4128	no	coding-synonymous	GPR179	NM_001004334.2		58,531,5441	CC,CA,AA		0.0363,16.9563,5.3648		2360/2368	36482372	647,11413	1899	4131	6030	SO:0001819	synonymous_variant	440435	exon11			ATAGACAGTGGGA		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.7080T>G	17.37:g.36482372A>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			A|0.955;C|0.045	0.045	strong		0.498	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36482372	A	C	36482372	2	2	22	1	0	0	0	0	0	0	0	1	6674	175	7	5		5	GPR179	17	36482372	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	651818	36482372	44712838	8738	13846										
GPR179	440435	hgsc.bcm.edu	37	chr17	36485753	36485753	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctgtggtcagcgctgccGagggactggaggccagcttt	15	12	1	0	rs35803744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36485753G>C	ENST00000342292.4	-	11	3719	c.3699C>G	c.(3697-3699)ctC>ctG	p.L1233L	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1233					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGCGCTGCCGAGGGACTGGA	0.572													C|||	1523	0.304113	0.8026	0.1628	5008	,	,		17462	0.125		0.1561	False		,,,				2504	0.0675				p.L1233L		Atlas-SNP	.											.	GPR179	170	.	0			c.C3699G						PASS	.	C		2595,1261		896,803,229	82	91	88		3699	-0.3	0.1	17	dbSNP_126	88	1026,7264		67,892,3186	no	coding-synonymous	GPR179	NM_001004334.2		963,1695,3415	CC,CG,GG		12.3764,32.7023,29.8123		1233/2368	36485753	3621,8525	1928	4145	6073	SO:0001819	synonymous_variant	440435	exon11			GCTGCCGAGGGAC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3699C>G	17.37:g.36485753G>C		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	160	159	0.99375	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			G|0.772;C|0.228	0.228	strong		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36485753	G	C	36485753	2	2	22	1	0	0	0	0	0	0	0	1	6674	1045	37	4		4	GPR179	17	36485753	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3381	36485753	44709457	8739	13847										
GPR179	440435	hgsc.bcm.edu	37	chr17	36486004	36486004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggttctggagggactcctTgtcatcggaggggataagag	16	6	2	1	rs55727040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36486004T>C	ENST00000342292.4	-	11	3468	c.3448A>G	c.(3448-3450)Aag>Gag	p.K1150E	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1150			K -> E (in dbSNP:rs55727040).		visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGGACTCCTTGTCATCGGAG	0.622													C|||	805	0.160743	0.4887	0.0994	5008	,	,		18575	0.0		0.0746	False		,,,				2504	0.0153				p.K1150E		Atlas-SNP	.											.	GPR179	170	.	0			c.A3448G						PASS	.	C	GLU/LYS	1575,2633		286,1003,815	147	149	148		3448	5.1	0.8	17	dbSNP_129	148	437,8025		10,417,3804	yes	missense	GPR179	NM_001004334.2	56	296,1420,4619	CC,CT,TT		5.1643,37.4287,15.88	benign	1150/2368	36486004	2012,10658	2104	4231	6335	SO:0001583	missense	440435	exon11			ACTCCTTGTCATC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3448A>G	17.37:g.36486004T>C	ENSP00000345060:p.Lys1150Glu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	288	0.13186813186813187	206	0.4186991869918699	38	0.10497237569060773	0	0.0	44	0.05804749340369393	C	0.135	-1.109424	0.01813	0.374287	0.051643	ENSG00000188888	ENST00000342292	T	0.37058	1.22	5.09	5.09	0.68999	.	0.000000	0.51477	N	0.000097	T	0.00012	0.0000	N	0.01168	-0.975	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	9	0.02654	T	1	-12.5624	11.095	0.48139	0.0:0.9133:0.0:0.0867	rs55727040	1150	Q6PRD1	GP179_HUMAN	E	1150	ENSP00000345060:K1150E	ENSP00000345060:K1150E	K	-	1	0	GPR179	33739530	0.000000	0.05858	0.837000	0.33122	0.087000	0.18053	0.195000	0.17155	1.380000	0.46344	-0.355000	0.07637	AAG	T|0.897;C|0.103	0.103	strong		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36486004	T	C	36486004	3	2	22	1	0	0	0	0	1	0	0	0	6674	1821	63	2	3659	2	GPR179	17	36486004	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	251	36486004	44709206	8740	13848										
GPR179	440435	hgsc.bcm.edu	37	chr17	36487060	36487060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggctctctgttcgagaggCcttcttggccagcttcctcc	10	16	2	1	rs78470373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36487060C>T	ENST00000342292.4	-	11	2412	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	798					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTTCGAGAGGCCTTCTTGGCC	0.652													C|||	53	0.0105831	0.0386	0.0029	5008	,	,		15168	0.0		0.0	False		,,,				2504	0.0				p.A798T		Atlas-SNP	.											.	GPR179	170	.	0			c.G2392A						PASS	.	C	THR/ALA	133,3827		3,127,1850	10	12	11		2392	4.3	0.8	17	dbSNP_131	11	1,8293		0,1,4146	no	missense	GPR179	NM_001004334.2	58	3,128,5996	TT,TC,CC		0.0121,3.3586,1.0935	benign	798/2368	36487060	134,12120	1980	4147	6127	SO:0001583	missense	440435	exon11			GAGAGGCCTTCTT		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2392G>A	17.37:g.36487060C>T	ENSP00000345060:p.Ala798Thr	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	46	26	0.565217	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	C	11.74	1.727989	0.30593	0.033586	1.21E-4	ENSG00000188888	ENST00000342292	T	0.54071	0.59	5.3	4.34	0.51931	.	1.005240	0.08006	N	0.989502	T	0.22859	0.0552	L	0.44542	1.39	0.31348	N	0.682852	B	0.26195	0.144	B	0.18263	0.021	T	0.31558	-0.9939	10	0.27785	T	0.31	-0.0366	12.8987	0.58113	0.0:0.9207:0.0:0.0793	.	798	Q6PRD1	GP179_HUMAN	T	798	ENSP00000345060:A798T	ENSP00000345060:A798T	A	-	1	0	GPR179	33740586	0.007000	0.16637	0.813000	0.32504	0.033000	0.12548	1.245000	0.32790	1.469000	0.48083	0.655000	0.94253	GCC	C|0.995;T|0.005	0.005	strong		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36487060	C	T	36487060	3	4	22	1	0	0	0	0	1	0	0	0	6674	739	26	2	4715	2	GPR179	17	36487060	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1056	36487060	44708150	8741	13849										
GPR179	440435	hgsc.bcm.edu	37	chr17	36487412	36487412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatagagcttcttcagctcGtcctgtggggcagcagggag	15	10	2	1	rs111770829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36487412G>A	ENST00000342292.4	-	11	2060	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	680					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTTCAGCTCGTCCTGTGGGG	0.587													G|||	133	0.0265575	0.0998	0.0014	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.0				p.D680D		Atlas-SNP	.											.	GPR179	170	.	0			c.C2040T						PASS	.	G		294,3810		10,274,1768	45	50	48		2040	-9.7	0.5	17	dbSNP_132	48	3,8383		0,3,4190	no	coding-synonymous	GPR179	NM_001004334.2		10,277,5958	AA,AG,GG		0.0358,7.1637,2.3779		680/2368	36487412	297,12193	2052	4193	6245	SO:0001819	synonymous_variant	440435	exon11			CAGCTCGTCCTGT		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2040C>T	17.37:g.36487412G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	205	92	0.44878	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			G|0.981;A|0.019	0.019	strong		0.587	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36487412	G	A	36487412	2	1	22	1	0	0	0	0	0	0	0	1	6674	1136	40	1		1	GPR179	17	36487412	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	352	36487412	44707798	8742	13850										
GPR179	440435	hgsc.bcm.edu	37	chr17	36493598	36493598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccctgactctccaggggAacacactatggggacaacaa	10	12	1	1	rs9894059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36493598A>G	ENST00000342292.4	-	3	929	c.909T>C	c.(907-909)gtT>gtC	p.V303V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	303					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTCCAGGGGAACACACTATG	0.562													G|||	1295	0.258586	0.5968	0.1326	5008	,	,		18903	0.119		0.1481	False		,,,				2504	0.1483				p.V303V		Atlas-SNP	.											.	GPR179	170	.	0			c.T909C						PASS	.	G		1898,2078		474,950,564	46	55	52		909	0.6	1	17	dbSNP_119	52	925,7381		58,809,3286	no	coding-synonymous	GPR179	NM_001004334.2		532,1759,3850	GG,GA,AA		11.1365,47.7364,22.9849		303/2368	36493598	2823,9459	1988	4153	6141	SO:0001819	synonymous_variant	440435	exon3			CAGGGGAACACAC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.909T>C	17.37:g.36493598A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			A|0.762;G|0.238	0.238	strong		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			G	36493598	A	G	36493598	2	3	22	1	0	0	0	0	0	0	0	1	6674	233	9	2		2	GPR179	17	36493598	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6186	36493598	44701612	8743	13851										
PIP4K2B	8396	hgsc.bcm.edu	37	chr17	36926731	36926731	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgtgcagctttcttcttTgtatcgtatggcgtgaggat	12	7	2	1	rs228289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36926731T>G	ENST00000269554.3	-	9	1608	c.1128A>C	c.(1126-1128)acA>acC	p.T376T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	376	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CTTTCTTCTTTGTATCGTATG	0.542													C|||	2013	0.401957	0.5068	0.3559	5008	,	,		17056	0.3591		0.2306	False		,,,				2504	0.5133				p.T376T		Atlas-SNP	.											.	PIP4K2B	35	.	0			c.A1128C						PASS	.	C		1964,2442		433,1098,672	240	213	222		1128	-4.9	0.1	17	dbSNP_79	222	2018,6582		250,1518,2532	no	coding-synonymous	PIP4K2B	NM_003559.4		683,2616,3204	GG,GT,TT		23.4651,44.5756,30.6166		376/417	36926731	3982,9024	2203	4300	6503	SO:0001819	synonymous_variant	8396	exon9			CTTCTTTGTATCG	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.1128A>C	17.37:g.36926731T>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	184	96	0.521739	NM_003559	Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																			T|0.663;G|0.337	0.337	strong		0.542	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		G	36926731	T	G	36926731	2	3	22	1	0	0	0	0	0	0	0	1	11937	1799	63	5		5	PIP4K2B	17	36926731	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	433133	36926731	44268479	8744	13852										
PIP4K2B	8396	hgsc.bcm.edu	37	chr17	36936846	36936846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttgatgggggcgctgcgCgtcactgaattctgataatc	13	9	2	3	rs16968328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36936846C>T	ENST00000269554.3	-	4	846	c.366G>A	c.(364-366)acG>acA	p.T122T	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	122	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGGCGCTGCGCGTCACTGAAT	0.572													C|||	323	0.0644968	0.2352	0.013	5008	,	,		19211	0.001		0.002	False		,,,				2504	0.0				p.T122T		Atlas-SNP	.											.	PIP4K2B	35	.	0			c.G366A						PASS	.	C		767,3639	313.0+/-292.9	60,647,1496	79	73	75		366	-6.1	0.9	17	dbSNP_123	75	8,8592	5.0+/-18.6	0,8,4292	no	coding-synonymous	PIP4K2B	NM_003559.4		60,655,5788	TT,TC,CC		0.093,17.4081,5.9588		122/417	36936846	775,12231	2203	4300	6503	SO:0001819	synonymous_variant	8396	exon4			GCTGCGCGTCACT	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.366G>A	17.37:g.36936846C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_003559	Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																			C|0.931;T|0.069	0.069	strong		0.572	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		T	36936846	C	T	36936846	2	4	22	1	0	0	0	0	0	0	0	1	11937	755	27	1		1	PIP4K2B	17	36936846	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10115	36936846	44258364	8745	13853										
CWC25	54883	hgsc.bcm.edu	37	chr17	36963226	36963226	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggttacggtcagagttccGgacctacatcattaaggaaa	10	9	2	1	rs3785452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:36963226G>T	ENST00000225428.5	-	7	991	c.694C>A	c.(694-696)Cgg>Agg	p.R232R	CWC25_ENST00000536127.1_Silent_p.R169R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	232										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TCAGAGTTCCGGACCTACATC	0.512													T|||	805	0.160743	0.4849	0.049	5008	,	,		18783	0.0556		0.0109	False		,,,				2504	0.0644				p.R232R		Atlas-SNP	.											.	CWC25	24	.	0			c.C694A						PASS	.	T		1555,2235		324,907,664	83	78	80		694	3	0.4	17	dbSNP_107	80	121,8119		0,121,3999	no	coding-synonymous	CWC25	NM_017748.3		324,1028,4663	TT,TG,GG		1.4684,41.029,13.9318		232/426	36963226	1676,10354	1895	4120	6015	SO:0001819	synonymous_variant	54883	exon7			AGTTCCGGACCTA	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.694C>A	17.37:g.36963226G>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_017748	A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	CCDS45663.1																																																																																			G|0.860;T|0.140	0.140	strong		0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		T	36963226	G	T	36963226	2	4	22	1	0	0	0	0	0	0	0	1	4069	1115	39	4		4	CWC25	17	36963226	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26380	36963226	44231984	8746	13854										
CDK12	51755	hgsc.bcm.edu	37	chr17	37619038	37619038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacaagatgatagcccctcGggagcttcttatggccaaga	10	10	1	3	rs35896550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37619038G>A	ENST00000447079.4	+	1	747	c.714G>A	c.(712-714)tcG>tcA	p.S238S	CDK12_ENST00000430627.2_Silent_p.S238S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	238					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATAGCCCCTCGGGAGCTTCTT	0.483			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			G|||	291	0.058107	0.2073	0.0159	5008	,	,		18736	0.0		0.003	False		,,,				2504	0.0031				p.S238S		Atlas-SNP	.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	CDK12,NS,carcinoma,+1,1	CDK12	161	1	0			c.G714A						PASS	.	G	,	772,3634	306.9+/-289.7	55,662,1486	102	112	109		714,714	-9.9	0.3	17	dbSNP_126	109	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	CDK12	NM_015083.1,NM_016507.2	,	55,665,5783	AA,AG,GG		0.0349,17.5216,5.9588	,	238/1482,238/1491	37619038	775,12231	2203	4300	6503	SO:0001819	synonymous_variant	51755	exon1			CCCCTCGGGAGCT	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.714G>A	17.37:g.37619038G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	CCDS11337.1																																																																																			G|0.933;A|0.067	0.067	strong		0.483	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37619038	G	A	37619038	2	1	22	1	0	0	0	0	0	0	0	1	3128	1103	39	1		1	CDK12	17	37619038	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	655812	37619038	43576172	8747	13855										
CDK12	51755	hgsc.bcm.edu	37	chr17	37682200	37682200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagccaaaccgacctgagcAtccctcaaatggcacagctg	9	14	1	2	rs61747430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37682200A>G	ENST00000447079.4	+	13	3424	c.3391A>G	c.(3391-3393)Atc>Gtc	p.I1131V	CDK12_ENST00000430627.2_Missense_Mutation_p.I1131V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1131					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGACCTGAGCATCCCTCAAAT	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A|||	43	0.00858626	0.0325	0.0	5008	,	,		19029	0.0		0.0	False		,,,				2504	0.0				p.I1131V		Atlas-SNP	.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	CDK12	161	.	0			c.A3391G						PASS	.	A	VAL/ILE,VAL/ILE	148,4258	103.0+/-141.5	3,142,2058	88	75	80		3391,3391	2.6	1	17	dbSNP_129	80	1,8599		0,1,4299	yes	missense,missense	CDK12	NM_016507.2,NM_015083.1	29,29	3,143,6357	GG,GA,AA		0.0116,3.3591,1.1456	benign,benign	1131/1491,1131/1482	37682200	149,12857	2203	4300	6503	SO:0001583	missense	51755	exon13			CTGAGCATCCCTC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3391A>G	17.37:g.37682200A>G	ENSP00000398880:p.Ile1131Val	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	239	106	0.443515	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	A	4.981	0.182220	0.09495	0.033591	1.16E-4	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.67171	-0.23;-0.25	4.82	2.59	0.31030	.	0.151372	0.30374	N	0.009776	T	0.13457	0.0326	N	0.01668	-0.77	0.30087	N	0.808665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10917	-1.0609	10	0.30854	T	0.27	-6.9124	7.0706	0.25177	0.6741:0.0:0.3259:0.0	rs61747430	1130;1131;1131	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	1131	ENSP00000407720:I1131V;ENSP00000398880:I1131V	ENSP00000407720:I1131V	I	+	1	0	CDK12	34935726	0.995000	0.38212	0.998000	0.56505	0.771000	0.43674	1.586000	0.36611	0.811000	0.34303	-0.385000	0.06624	ATC	A|0.989;G|0.011	0.011	strong		0.507	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37682200	A	G	37682200	3	3	22	1	0	0	0	0	1	0	0	0	3128	217	8	2	3441	2	CDK12	17	37682200	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63162	37682200	43513010	8748	13856										
PPP1R1B	84152	hgsc.bcm.edu	37	chr17	37791894	37791894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgtggccagggtctggaAgggccctgggagcgcccacc	16	14	1	0	rs34257414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37791894A>G	ENST00000254079.4	+	6	949	c.480A>G	c.(478-480)gaA>gaG	p.E160E	PPP1R1B_ENST00000394267.2_Silent_p.E124E|STARD3_ENST00000544210.2_5'Flank|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000336308.5_5'Flank|PPP1R1B_ENST00000580825.1_Silent_p.E160E|PPP1R1B_ENST00000579000.1_Silent_p.E127E|PPP1R1B_ENST00000394265.1_Silent_p.E124E|STARD3_ENST00000394250.4_5'Flank	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	160					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGGTCTGGAAGGGCCCTGGG	0.587													G|||	94	0.01877	0.0711	0.0	5008	,	,		19292	0.0		0.0	False		,,,				2504	0.0				p.E160E		Atlas-SNP	.											.	PPP1R1B	9	.	0			c.A480G						PASS	.	G	,,	206,4200	784.3+/-414.7	3,200,2000	74	85	81		372,480,372	2.1	1	17	dbSNP_126	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PPP1R1B	NM_001242464.1,NM_032192.3,NM_181505.3	,,	3,200,6300	GG,GA,AA		0.0,4.6754,1.5839	,,	124/169,160/205,124/169	37791894	206,12800	2203	4300	6503	SO:0001819	synonymous_variant	84152	exon6			TCTGGAAGGGCCC	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.480A>G	17.37:g.37791894A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	92	43	0.467391	NM_032192	Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	CCDS11339.1																																																																																			A|0.979;G|0.021	0.021	strong		0.587	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		G	37791894	A	G	37791894	2	3	22	1	0	0	0	0	0	0	0	1	12368	69	3	3		3	PPP1R1B	17	37791894	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	109694	37791894	43403316	8749	13857										
PNMT	5409	hgsc.bcm.edu	37	chr17	37826249	37826249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgcgagccagggtgaaAcgggtcctgcccatcgacgt	14	13	0	1	rs5638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37826249A>G	ENST00000269582.2	+	3	774	c.456A>G	c.(454-456)aaA>aaG	p.K152K	PNMT_ENST00000394246.1_Silent_p.K54K|PNMT_ENST00000581428.1_3'UTR	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	152					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGGGTGAAACGGGTCCTGC	0.657													A|||	317	0.0632987	0.1725	0.0317	5008	,	,		16981	0.004		0.0129	False		,,,				2504	0.0511				p.K152K		Atlas-SNP	.											.	PNMT	17	.	0			c.A456G						PASS	.	A		640,3766	252.4+/-258.8	45,550,1608	41	44	43		456	4	1	17	dbSNP_52	43	169,8429	74.5+/-137.1	1,167,4131	no	coding-synonymous	PNMT	NM_002686.3		46,717,5739	GG,GA,AA		1.9656,14.5256,6.2212		152/283	37826249	809,12195	2203	4299	6502	SO:0001819	synonymous_variant	5409	exon3			GGTGAAACGGGTC		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.456A>G	17.37:g.37826249A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_002686		Silent	SNP	ENST00000269582.2	37	CCDS11343.1																																																																																			A|0.933;G|0.067	0.067	strong		0.657	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		G	37826249	A	G	37826249	2	3	22	1	0	0	0	0	0	0	0	1	12159	40	2	2		2	PNMT	17	37826249	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34355	37826249	43368961	8750	13858										
ERBB2	2064	hgsc.bcm.edu	37	chr17	37863268	37863268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accggcacagacatgaagctGcggctccctgccagtcccga	11	16	0	2	rs4252610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37863268G>A	ENST00000269571.5	+	2	258	c.99G>A	c.(97-99)ctG>ctA	p.L33L	ERBB2_ENST00000578199.1_Silent_p.L3L|ERBB2_ENST00000540147.1_Silent_p.L3L|ERBB2_ENST00000406381.2_Silent_p.L3L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.L3L|ERBB2_ENST00000584601.1_Silent_p.L3L|ERBB2_ENST00000541774.1_Silent_p.L18L|ERBB2_ENST00000584450.1_Silent_p.L33L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	33					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACATGAAGCTGCGGCTCCCTG	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			G|||	90	0.0179712	0.0673	0.0014	5008	,	,		17261	0.0		0.0	False		,,,				2504	0.0				p.L33L		Atlas-SNP	.		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	ERBB2	429	.	0			c.G99A						PASS	.	G	,	206,4192		5,196,1998	40	35	37		9,99	2	1	17	dbSNP_111	37	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	ERBB2	NM_001005862.1,NM_004448.2	,	5,196,6290	AA,AG,GG		0.0,4.6839,1.5868	,	3/1226,33/1256	37863268	206,12776	2199	4292	6491	SO:0001819	synonymous_variant	2064	exon2			GAAGCTGCGGCTC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.99G>A	17.37:g.37863268G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	137	63	0.459854	NM_004448	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																			G|0.982;A|0.018	0.018	strong		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37863268	G	A	37863268	2	1	22	1	0	0	0	0	0	0	0	1	5206	1306	46	2		2	ERBB2	17	37863268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37019	37863268	43331942	8751	13859										
ERBB2	2064	hgsc.bcm.edu	37	chr17	37872035	37872035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagggctgggcatcagctgGctggggctgcgctcactgag	17	11	2	1	rs4252633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:37872035G>T	ENST00000269571.5	+	12	1515	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C	ERBB2_ENST00000578199.1_Missense_Mutation_p.W422C|ERBB2_ENST00000540147.1_Missense_Mutation_p.W422C|ERBB2_ENST00000406381.2_Missense_Mutation_p.W422C|ERBB2_ENST00000445658.2_Missense_Mutation_p.W176C|ERBB2_ENST00000540042.1_Missense_Mutation_p.W422C|ERBB2_ENST00000584601.1_Missense_Mutation_p.W422C|ERBB2_ENST00000541774.1_Missense_Mutation_p.W437C|ERBB2_ENST00000584450.1_Missense_Mutation_p.W452C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	452			W -> C (in dbSNP:rs4252633). {ECO:0000269|Ref.3}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCATCAGCTGGCTGGGGCTGC	0.627		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			G|||	90	0.0179712	0.0673	0.0014	5008	,	,		19038	0.0		0.0	False		,,,				2504	0.0				p.W452C		Atlas-SNP	.		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	ERBB2	429	.	0			c.G1356T						PASS	.	G	CYS/TRP,CYS/TRP	210,4196	129.0+/-165.8	6,198,1999	98	81	86		1266,1356	2.8	1	17	dbSNP_111	86	0,8600		0,0,4300	yes	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	215,215	6,198,6299	TT,TG,GG		0.0,4.7662,1.6146	possibly-damaging,possibly-damaging	422/1226,452/1256	37872035	210,12796	2203	4300	6503	SO:0001583	missense	2064	exon12			CAGCTGGCTGGGG	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1356G>T	17.37:g.37872035G>T	ENSP00000269571:p.Trp452Cys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_004448	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	39	0.017857142857142856	38	0.07723577235772358	1	0.0027624309392265192	0	0.0	0	0.0	G	8.363	0.833490	0.16820	0.047662	0.0	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.93	2.79	0.32731	EGF receptor, L domain (1);	.	.	.	.	T	0.16685	0.0401	L	0.34521	1.04	0.35496	D	0.799411	P;D;D;P	0.57257	0.951;0.979;0.965;0.903	P;P;P;P	0.62885	0.88;0.874;0.762;0.908	T	0.62680	-0.6803	9	0.72032	D	0.01	.	3.232	0.06751	0.1435:0.2503:0.4775:0.1287	rs4252633	176;422;437;452	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	C	422;437;176;452;422;422	ENSP00000385185:W422C;ENSP00000446466:W437C;ENSP00000404047:W176C;ENSP00000269571:W452C;ENSP00000443562:W422C;ENSP00000446382:W422C	ENSP00000269571:W452C	W	+	3	0	ERBB2	35125561	0.528000	0.26314	0.995000	0.50966	0.899000	0.52679	-0.034000	0.12225	0.381000	0.24851	-0.305000	0.09177	TGG	G|0.979;T|0.021	0.021	strong		0.627	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37872035	G	T	37872035	3	4	22	1	0	0	0	0	1	0	0	0	5206	1212	42	4	1402	4	ERBB2	17	37872035	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8767	37872035	43323175	8752	13860										
ZPBP2	124626	hgsc.bcm.edu	37	chr17	38027824	38027824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcttataagactgttaaaGcagaaactcaagaagaaaaa	6	5	2	4	rs35829084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38027824G>A	ENST00000348931.4	+	4	543	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZPBP2_ENST00000584588.1_Missense_Mutation_p.A118T|ZPBP2_ENST00000377940.3_Missense_Mutation_p.A96T	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	118			A -> T (in dbSNP:rs35829084).		acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GACTGTTAAAGCAGAAACTCA	0.318													G|||	148	0.0295527	0.1089	0.0058	5008	,	,		16323	0.0		0.0	False		,,,				2504	0.0				p.A118T		Atlas-SNP	.											.	ZPBP2	33	.	0			c.G352A						PASS	.	G	THR/ALA,THR/ALA	382,4024	189.9+/-215.9	25,332,1846	77	80	79		286,352	4.4	1	17	dbSNP_126	79	3,8589	2.2+/-6.3	0,3,4293	yes	missense,missense	ZPBP2	NM_198844.2,NM_199321.2	58,58	25,335,6139	AA,AG,GG		0.0349,8.67,2.962	probably-damaging,probably-damaging	96/317,118/339	38027824	385,12613	2203	4296	6499	SO:0001583	missense	124626	exon4			GTTAAAGCAGAAA	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.352G>A	17.37:g.38027824G>A	ENSP00000335384:p.Ala118Thr	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	154	85	0.551948	NM_199321	A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	57	0.0260989010989011	55	0.11178861788617886	2	0.0055248618784530384	0	0.0	0	0.0	G	9.022	0.985096	0.18889	0.0867	3.49E-4	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.55760	0.5;0.5	5.36	4.39	0.52855	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455087	0.21308	N	0.076697	T	0.00784	0.0026	L	0.39898	1.24	0.22226	N	0.999272	B;B	0.26635	0.112;0.155	B;B	0.20955	0.029;0.032	T	0.00904	-1.1520	10	0.27785	T	0.31	-4.4881	6.3234	0.21231	0.2041:0.0:0.7959:0.0	rs35829084	96;118	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	T	118;96	ENSP00000335384:A118T;ENSP00000367174:A96T	ENSP00000335384:A118T	A	+	1	0	ZPBP2	35281350	0.997000	0.39634	0.995000	0.50966	0.248000	0.25809	2.785000	0.47782	2.506000	0.84524	0.460000	0.39030	GCA	G|0.968;A|0.032	0.032	strong		0.318	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		A	38027824	G	A	38027824	3	1	22	1	0	0	0	0	1	0	0	0	18217	971	34	2	366	2	ZPBP2	17	38027824	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155789	38027824	43167386	8753	13861										
ZPBP2	124626	hgsc.bcm.edu	37	chr17	38028635	38028635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagaaaatcttggatagTctaatttctgatttgtcatg	8	5	4	3	rs61737283	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38028635T>C	ENST00000348931.4	+	5	710	c.519T>C	c.(517-519)agT>agC	p.S173S	ZPBP2_ENST00000377940.3_Silent_p.S151S|ZPBP2_ENST00000584588.1_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	173			S -> I (in dbSNP:rs11557467). {ECO:0000269|PubMed:14702039}.		acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTTGGATAGTCTAATTTCTG	0.358													T|||	148	0.0295527	0.1089	0.0058	5008	,	,		14981	0.0		0.0	False		,,,				2504	0.0				p.S173S		Atlas-SNP	.											.	ZPBP2	33	.	0			c.T519C						PASS	.																																			SO:0001819	synonymous_variant	124626	exon5			GGATAGTCTAATT	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.519T>C	17.37:g.38028635T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	89	48	0.539326	NM_199321	A8K8L8|Q6X783|Q86XL5	Silent	SNP	ENST00000348931.4	37	CCDS11352.1																																																																																			T|0.868;C|0.132	0.132	strong		0.358	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		C	38028635	T	C	38028635	2	2	22	1	0	0	0	0	0	0	0	1	18217	1664	58	2		2	ZPBP2	17	38028635	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	811	38028635	43166575	8754	13862										
GSDMA	284110	hgsc.bcm.edu	37	chr17	38122117	38122117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgtccgcaccgactacacGctgctggatgtgcttgagcc	11	14	0	1	rs16965465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38122117G>A	ENST00000301659.4	+	2	295	c.177G>A	c.(175-177)acG>acA	p.T59T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	59					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCGACTACACGCTGCTGGATG	0.637													A|||	351	0.0700879	0.2315	0.036	5008	,	,		17304	0.0		0.0149	False		,,,				2504	0.0051				p.T59T		Atlas-SNP	.											GSDMA,NS,carcinoma,+1,1	GSDMA	26	1	0			c.G177A						PASS	.	A		683,3313		60,563,1375	21	24	23		177	1	1	17	dbSNP_123	23	53,8223		1,51,4086	no	coding-synonymous	GSDMA	NM_178171.4		61,614,5461	AA,AG,GG		0.6404,17.0921,5.9974		59/446	38122117	736,11536	1998	4138	6136	SO:0001819	synonymous_variant	284110	exon2			CTACACGCTGCTG	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.177G>A	17.37:g.38122117G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	CCDS45669.1																																																																																			G|0.930;A|0.070	0.070	strong		0.637	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		A	38122117	G	A	38122117	2	1	22	1	0	0	0	0	0	0	0	1	6816	1074	38	1		1	GSDMA	17	38122117	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93482	38122117	43073093	8755	13863										
MED24	9862	hgsc.bcm.edu	37	chr17	38175866	38175866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagaaccaccttggggctGgacatggctgacaccttcac	11	14	1	2	rs11555254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38175866G>A	ENST00000394128.2	-	26	2967	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S	MED24_ENST00000501516.3_Silent_p.S981S|MED24_ENST00000356271.3_Silent_p.S949S|MED24_ENST00000394127.2_Silent_p.S949S|MED24_ENST00000394126.1_Silent_p.S987S	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	962					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CCTTGGGGCTGGACATGGCTG	0.647													G|||	557	0.111222	0.1762	0.1225	5008	,	,		17624	0.006		0.162	False		,,,				2504	0.0716				p.S962S		Atlas-SNP	.											.	MED24	89	.	0			c.C2886T						PASS	.	G	,	798,3608	316.9+/-294.8	72,654,1477	71	61	64		2847,2886	4.1	1	17	dbSNP_120	64	1405,7195	268.7+/-288.0	114,1177,3009	no	coding-synonymous,coding-synonymous	MED24	NM_001079518.1,NM_014815.3	,	186,1831,4486	AA,AG,GG		16.3372,18.1117,16.9383	,	949/977,962/990	38175866	2203,10803	2203	4300	6503	SO:0001819	synonymous_variant	9862	exon26			GGGGCTGGACATG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2886C>T	17.37:g.38175866G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	133	66	0.496241	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	CCDS11359.1	272	0.12454212454212454	91	0.18495934959349594	48	0.13259668508287292	3	0.005244755244755245	130	0.17150395778364116	G	10.91	1.484460	0.26598	0.181117	0.163372	ENSG00000008838	ENST00000422942	.	.	.	5.08	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.2844	14.4219	0.67190	0.0753:0.0:0.9247:0.0	rs11555254;rs17850738;rs11555254	.	.	.	X	260	.	.	Q	-	1	0	MED24	35429392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.006000	0.49529	2.506000	0.84524	0.650000	0.86243	CAG	G|0.850;A|0.150	0.150	strong		0.647	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		A	38175866	G	A	38175866	2	1	22	1	0	0	0	0	0	0	0	1	9442	1335	47	2		2	MED24	17	38175866	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53749	38175866	43019344	8756	13864										
MED24	9862	hgsc.bcm.edu	37	chr17	38186106	38186106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtgcgtgctctcggtcCgctttgctgtggacatcacc	14	12	2	0	rs11555255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38186106C>T	ENST00000394128.2	-	13	1242	c.1161G>A	c.(1159-1161)gcG>gcA	p.A387A	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000501516.3_Silent_p.A406A|MED24_ENST00000356271.3_Silent_p.A374A|MED24_ENST00000394127.2_Silent_p.A374A|MED24_ENST00000394126.1_Silent_p.A412A	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	387					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCTCTCGGTCCGCTTTGCTGT	0.557													C|||	528	0.105431	0.1551	0.1182	5008	,	,		20173	0.006		0.164	False		,,,				2504	0.0716				p.A387A		Atlas-SNP	.											.	MED24	89	.	0			c.G1161A						PASS	.	C	,	737,3669	304.1+/-288.3	63,611,1529	221	165	184		1122,1161	-4.2	0.2	17	dbSNP_120	184	1401,7199	270.7+/-289.1	115,1171,3014	no	coding-synonymous,coding-synonymous	MED24	NM_001079518.1,NM_014815.3	,	178,1782,4543	TT,TC,CC		16.2907,16.7272,16.4386	,	374/977,387/990	38186106	2138,10868	2203	4300	6503	SO:0001819	synonymous_variant	9862	exon13			TCGGTCCGCTTTG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1161G>A	17.37:g.38186106C>T		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	218	112	0.513761	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	CCDS11359.1																																																																																			T|0.119;G|0.156;C|0.699;A|0.025	0.119	strong		0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		T	38186106	C	T	38186106	2	4	22	1	0	0	0	0	0	0	0	1	9442	639	23	1		1	MED24	17	38186106	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10240	38186106	43009104	8757	13865										
MED24	9862	hgsc.bcm.edu	37	chr17	38189659	38189659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgggttgctgagattggCcaggatctctccaagtttca	12	10	2	1	rs34585432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38189659C>T	ENST00000394128.2	-	7	691	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	MED24_ENST00000501516.3_Missense_Mutation_p.A223T|MED24_ENST00000356271.3_Missense_Mutation_p.A191T|MED24_ENST00000394127.2_Missense_Mutation_p.A191T|MED24_ENST00000394126.1_Missense_Mutation_p.A229T|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	204			A -> T (in dbSNP:rs34585432). {ECO:0000269|PubMed:8590280}.		androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CTGAGATTGGCCAGGATCTCT	0.567													C|||	29	0.00579073	0.0204	0.0029	5008	,	,		19434	0.0		0.0	False		,,,				2504	0.0				p.A204T		Atlas-SNP	.											.	MED24	89	.	0			c.G610A						PASS	.	C	THR/ALA,THR/ALA	92,4314	70.9+/-108.8	1,90,2112	43	38	40		571,610	3.7	1	17	dbSNP_126	40	0,8600		0,0,4300	yes	missense,missense	MED24	NM_001079518.1,NM_014815.3	58,58	1,90,6412	TT,TC,CC		0.0,2.0881,0.7074	benign,benign	191/977,204/990	38189659	92,12914	2203	4300	6503	SO:0001583	missense	9862	exon7			GATTGGCCAGGAT	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.610G>A	17.37:g.38189659C>T	ENSP00000377686:p.Ala204Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	101	47	0.465347	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	13.03	2.115269	0.37339	0.020881	0.0	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000535508;ENST00000431269;ENST00000428757	T;T;T	0.42131	0.98;0.98;0.98	5.67	3.69	0.42338	Mediator complex, subunit Med24, N-terminal (1);	0.307388	0.34314	N	0.004079	T	0.23054	0.0557	N	0.08118	0	0.25781	N	0.984725	B;B;B;B;B;B;B;B;D	0.71674	0.367;0.166;0.166;0.357;0.034;0.017;0.034;0.042;0.998	B;B;B;B;B;B;B;B;D	0.78314	0.253;0.096;0.096;0.257;0.04;0.005;0.025;0.042;0.991	T	0.07233	-1.0783	10	0.33141	T	0.24	-14.6106	8.965	0.35872	0.0:0.7801:0.0:0.2199	rs34585432	178;191;154;133;154;114;191;204;146	B9TX63;B9TX65;B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;.;MED24_HUMAN;.	T	204;204;204;154;191;146;178;178;114;223	ENSP00000377686:A204T;ENSP00000443344:A154T;ENSP00000377685:A191T	ENSP00000348610:A204T	A	-	1	0	MED24	35443185	0.924000	0.31332	1.000000	0.80357	0.613000	0.37349	0.946000	0.29069	1.402000	0.46780	0.655000	0.94253	GCC	C|0.993;T|0.007	0.007	strong		0.567	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		T	38189659	C	T	38189659	3	4	22	1	0	0	0	0	1	0	0	0	9442	739	26	2	2439	2	MED24	17	38189659	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3553	38189659	43005551	8758	13866										
NR1D1	9572	hgsc.bcm.edu	37	chr17	38253469	38253469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccgtcatcactcaggctGggtggaatgctcccaaagga	13	11	3	0	rs9905506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38253469G>A	ENST00000246672.3	-	2	849	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	73	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CACTCAGGCTGGGTGGAATGC	0.607													G|||	123	0.0245607	0.0908	0.0043	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0				p.P73P		Atlas-SNP	.											.	NR1D1	45	.	0			c.C219T						PASS	.	G		290,4116	160.3+/-192.7	5,280,1918	75	76	76		219	1.6	1	17	dbSNP_119	76	0,8600		0,0,4300	no	coding-synonymous	NR1D1	NM_021724.3		5,280,6218	AA,AG,GG		0.0,6.5819,2.2297		73/615	38253469	290,12716	2203	4300	6503	SO:0001819	synonymous_variant	9572	exon2			CAGGCTGGGTGGA	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.219C>T	17.37:g.38253469G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	176	84	0.477273	NM_021724	Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	CCDS11361.1																																																																																			G|0.979;A|0.021	0.021	strong		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			A	38253469	G	A	38253469	2	1	22	1	0	0	0	0	0	0	0	1	10615	1335	47	2		2	NR1D1	17	38253469	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63810	38253469	42941741	8759	13867										
MSL1	339287	hgsc.bcm.edu	37	chr17	38285681	38285681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccagaaaagccccggtcTtcagtggacaccccaccaag	8	17	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38285681T>C	ENST00000398532.4	+	3	1491	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	MSL1_ENST00000579565.1_Silent_p.S129S|MSL1_ENST00000578648.1_Silent_p.S392S|MSL1_ENST00000577454.1_Silent_p.S392S	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	392					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AGCCCCGGTCTTCAGTGGACA	0.498																																					p.S129S		Atlas-SNP	.											.	MSL1	21	.	0			c.T387C						PASS	.						52	54	54					17																	38285681		1834	4093	5927	SO:0001819	synonymous_variant	339287	exon4			CCGGTCTTCAGTG		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1176T>C	17.37:g.38285681T>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	95	5	0.0526316	NM_001012241	Q0VF46|Q69Z03	Silent	SNP	ENST00000398532.4	37																																																																																				.	.	none		0.498	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		C	38285681	T	C	38285681	2	2	22	1	0	0	0	0	0	0	0	1	9877	1596	56	3		3	MSL1	17	38285681	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	32212	38285681	42909529	8760	13868										
CDC6	990	hgsc.bcm.edu	37	chr17	38447569	38447569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagaaagaatctgcatgTgtgagactattcaagcaaga	10	6	2	5	rs1130199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38447569T>C	ENST00000209728.4	+	3	909	c.438T>C	c.(436-438)tgT>tgC	p.C146C		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	146					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AATCTGCATGTGTGAGACTAT	0.403													T|||	557	0.111222	0.3994	0.0375	5008	,	,		24231	0.0		0.003	False		,,,				2504	0.0				p.C146C		Atlas-SNP	.											.	CDC6	53	.	0			c.T438C						PASS	.	T		1438,2968	453.6+/-350.4	230,978,995	87	90	89		438	0.9	0	17	dbSNP_86	89	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	CDC6	NM_001254.3		230,988,5285	CC,CT,TT		0.1163,32.6373,11.1333		146/561	38447569	1448,11558	2203	4300	6503	SO:0001819	synonymous_variant	990	exon3			TGCATGTGTGAGA	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.438T>C	17.37:g.38447569T>C		Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	140	139	0.992857	NM_001254	Q8TB30	Silent	SNP	ENST00000209728.4	37	CCDS11365.1																																																																																			T|0.886;C|0.114	0.114	strong		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			C	38447569	T	C	38447569	2	2	22	1	0	0	0	0	0	0	0	1	3083	1702	59	2		2	CDC6	17	38447569	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	161888	38447569	42747641	8761	13869										
CDC6	990	hgsc.bcm.edu	37	chr17	38457151	38457151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcccaagtcatctcagaaGttgatggtaacaggatgacc	9	9	2	3	rs13706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38457151G>A	ENST00000209728.4	+	10	1792	c.1321G>A	c.(1321-1323)Gtt>Att	p.V441I	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	441			V -> I (in dbSNP:rs13706). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CATCTCAGAAGTTGATGGTAA	0.428													G|||	1402	0.279952	0.5348	0.183	5008	,	,		21220	0.3482		0.1113	False		,,,				2504	0.1074				p.V441I		Atlas-SNP	.											.	CDC6	53	.	0			c.G1321A	GRCh37	CM065057	CDC6	M	rs13706	PASS	.	G	ILE/VAL	2014,2392	561.4+/-380.7	479,1056,668	217	194	202		1321	3.8	1	17	dbSNP_52	202	950,7650	208.7+/-250.1	57,836,3407	yes	missense	CDC6	NM_001254.3	29	536,1892,4075	AA,AG,GG		11.0465,45.7104,22.7895	possibly-damaging	441/561	38457151	2964,10042	2203	4300	6503	SO:0001583	missense	990	exon10			TCAGAAGTTGATG	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1321G>A	17.37:g.38457151G>A	ENSP00000209728:p.Val441Ile	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	205	202	0.985366	NM_001254	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	608	0.2783882783882784	255	0.5182926829268293	62	0.1712707182320442	215	0.3758741258741259	76	0.10026385224274406	G	19.42	3.823558	0.71143	0.457104	0.110465	ENSG00000094804	ENST00000209728	T	0.52983	0.64	5.96	3.82	0.43975	.	0.185081	0.46442	N	0.000289	T	0.00012	0.0000	L	0.54908	1.71	0.24597	P	0.99379435	P	0.44578	0.838	B	0.44224	0.444	T	0.49670	-0.8915	9	0.17369	T	0.5	-11.9661	10.4299	0.44400	0.204:0.0:0.796:0.0	rs13706;rs1048815;rs2230629;rs3188865;rs17852245;rs57349852;rs13706	441	Q99741	CDC6_HUMAN	I	441	ENSP00000209728:V441I	ENSP00000209728:V441I	V	+	1	0	CDC6	35710677	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.003000	0.57061	1.539000	0.49286	0.655000	0.94253	GTT	G|0.734;A|0.266	0.266	strong		0.428	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			A	38457151	G	A	38457151	3	1	22	1	0	0	0	0	1	0	0	0	3083	1029	36	2	1355	2	CDC6	17	38457151	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9582	38457151	42738059	8762	13870										
TNS4	84951	hgsc.bcm.edu	37	chr17	38645125	38645125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggaggccaccactgcgaAgggagccgaagggcggggtg	21	9	0	0	rs3764424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38645125A>G	ENST00000254051.6	-	3	694	c.536T>C	c.(535-537)cTt>cCt	p.L179P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	179	Ser-rich.		L -> P (in dbSNP:rs3764424). {ECO:0000269|PubMed:12154022}.		apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCACTGCGAAGGGAGCCGAA	0.622													G|||	1744	0.348243	0.3661	0.3343	5008	,	,		17352	0.3601		0.2664	False		,,,				2504	0.4059				p.L179P		Atlas-SNP	.											TNS4,NS,carcinoma,0,2	TNS4	72	2	0			c.T536C						PASS	.	G	PRO/LEU	1479,2925		272,935,995	51	62	58		536	5.8	0.9	17	dbSNP_107	58	2066,6528		264,1538,2495	yes	missense	TNS4	NM_032865.5	98	536,2473,3490	GG,GA,AA		24.04,33.5831,27.2734	benign	179/716	38645125	3545,9453	2202	4297	6499	SO:0001583	missense	84951	exon3			CTGCGAAGGGAGC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.536T>C	17.37:g.38645125A>G	ENSP00000254051:p.Leu179Pro	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	157	75	0.477707	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	672	0.3076923076923077	163	0.3313008130081301	109	0.3011049723756906	201	0.3513986013986014	199	0.262532981530343	G	1.812	-0.474428	0.04414	0.335831	0.2404	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.14516	2.5	5.77	5.77	0.91146	.	0.533182	0.17309	N	0.178943	T	0.00012	0.0000	N	0.01048	-1.04	0.34228	P	0.32381099999999996	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	9	0.02654	T	1	-8.4726	13.0665	0.59036	0.0749:0.0:0.9251:0.0	rs3764424;rs3764424	179	Q8IZW8	TENS4_HUMAN	P	179	ENSP00000254051:L179P	ENSP00000254051:L179P	L	-	2	0	TNS4	35898651	1.000000	0.71417	0.866000	0.34008	0.285000	0.27093	3.492000	0.53259	1.462000	0.47948	-0.213000	0.12676	CTT	A|0.708;G|0.292	0.292	strong		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		G	38645125	A	G	38645125	3	3	22	1	0	0	0	0	1	0	0	0	16342	72	3	3	1655	3	TNS4	17	38645125	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	187974	38645125	42550085	8763	13871										
KRT24	192666	hgsc.bcm.edu	37	chr17	38859664	38859664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccaaatccagagaccccGccaaagctagaacccccacc	6	19	0	2	rs61237409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38859664G>A	ENST00000264651.2	-	1	338	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	94	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAGAGACCCCGCCAAAGCTAG	0.572													G|||	192	0.0383387	0.1384	0.0115	5008	,	,		13481	0.0		0.001	False		,,,				2504	0.0				p.G94G	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											.	KRT24	60	.	0			c.C282T						PASS	.	G		416,3990	201.1+/-224.2	22,372,1809	95	118	110		282	-8.3	0	17	dbSNP_129	110	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	KRT24	NM_019016.2		22,375,6106	AA,AG,GG		0.0349,9.4417,3.2216		94/526	38859664	419,12587	2203	4300	6503	SO:0001819	synonymous_variant	192666	exon1			GACCCCGCCAAAG		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.282C>T	17.37:g.38859664G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_019016	Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																			G|0.969;A|0.031	0.031	strong		0.572	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		A	38859664	G	A	38859664	2	1	22	1	0	0	0	0	0	0	0	1	8461	1074	38	1		1	KRT24	17	38859664	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	214539	38859664	42335546	8764	13872										
KRT28	162605	hgsc.bcm.edu	37	chr17	38955961	38955961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttccaagggcaccaccaGcatggctcccaccaggaaca	8	16	0	0	rs4624233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:38955961G>A	ENST00000306658.7	-	1	250	c.185C>T	c.(184-186)gCt>gTt	p.A62V		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGCACCACCAGCATGGCTCCC	0.542													G|||	1465	0.292532	0.2958	0.134	5008	,	,		18308	0.4077		0.1938	False		,,,				2504	0.3834				p.A62V	Melanoma(19;789 869 15380 26882 39836)	Atlas-SNP	.											.	KRT28	65	.	0			c.C185T						PASS	.	G	VAL/ALA	1277,3129	433.5+/-343.6	192,893,1118	73	74	74		185	1.4	0	17	dbSNP_111	74	1596,7004	296.2+/-302.8	149,1298,2853	yes	missense	KRT28	NM_181535.3	64	341,2191,3971	AA,AG,GG		18.5581,28.9832,22.0898	benign	62/465	38955961	2873,10133	2203	4300	6503	SO:0001583	missense	162605	exon1			CCACCAGCATGGC	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.185C>T	17.37:g.38955961G>A	ENSP00000305263:p.Ala62Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	74	33	0.445946	NM_181535		Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	580	0.26556776556776557	148	0.3008130081300813	57	0.1574585635359116	231	0.40384615384615385	144	0.18997361477572558	G	5.492	0.275848	0.10403	0.289832	0.185581	ENSG00000173908	ENST00000306658	T	0.75821	-0.97	5.08	1.35	0.21983	.	0.852841	0.10182	N	0.705705	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.10450	0.005	T	0.31447	-0.9943	9	0.17369	T	0.5	.	5.8448	0.18659	0.2198:0.4563:0.3239:0.0	rs4624233;rs61130906;rs4624233	62	Q7Z3Y7	K1C28_HUMAN	V	62	ENSP00000305263:A62V	ENSP00000305263:A62V	A	-	2	0	KRT28	36209487	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.548000	0.06048	0.623000	0.30267	0.650000	0.86243	GCT	G|0.752;A|0.248	0.248	strong		0.542	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		A	38955961	G	A	38955961	3	1	22	1	0	0	0	0	1	0	0	0	8465	971	34	2	1241	2	KRT28	17	38955961	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96297	38955961	42239249	8765	13873										
KRT23	25984	hgsc.bcm.edu	37	chr17	39081713	39081713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttctgccgctccagttcAtggcgtagctgcgtcagttc	11	12	3	0	rs8037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39081713A>G	ENST00000209718.3	-	7	1459	c.1035T>C	c.(1033-1035)caT>caC	p.H345H	KRT23_ENST00000436344.3_Silent_p.H208H|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	345	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCTCCAGTTCATGGCGTAGCT	0.532													G|||	2859	0.570887	0.5643	0.6081	5008	,	,		21238	0.7083		0.4056	False		,,,				2504	0.5818				p.H345H		Atlas-SNP	.											.	KRT23	59	.	0			c.T1035C						PASS	.	G		2354,2052	568.7+/-382.4	628,1098,477	209	156	174		1035	-4.4	0.4	17	dbSNP_52	174	3382,5218	641.7+/-399.7	687,2008,1605	no	coding-synonymous	KRT23	NM_015515.3		1315,3106,2082	GG,GA,AA		39.3256,46.5729,44.1027		345/423	39081713	5736,7270	2203	4300	6503	SO:0001819	synonymous_variant	25984	exon7			CAGTTCATGGCGT	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1035T>C	17.37:g.39081713A>G		Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	258	258	1	NM_015515	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	CCDS11380.1																																																																																			A|0.501;G|0.499	0.499	strong		0.532	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			G	39081713	A	G	39081713	2	3	22	1	0	0	0	0	0	0	0	1	8460	214	8	2		2	KRT23	17	39081713	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	125752	39081713	42113497	8766	13874										
KRT23	25984	hgsc.bcm.edu	37	chr17	39084504	39084504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcaccgtgctgtactgtgTctgcaggtcaatctccaggg	11	12	4	0	rs9257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39084504T>C	ENST00000209718.3	-	6	1331	c.907A>G	c.(907-909)Aca>Gca	p.T303A	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.T166A	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	303	Coil 2.|Rod.		T -> A (in dbSNP:rs9257). {ECO:0000269|PubMed:14702039}.			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTGTACTGTGTCTGCAGGTCA	0.577													C|||	2921	0.583267	0.6029	0.6081	5008	,	,		20442	0.7083		0.4076	False		,,,				2504	0.591				p.T303A		Atlas-SNP	.											.	KRT23	59	.	0			c.A907G						PASS	.	C	ALA/THR	2468,1938	552.1+/-378.4	695,1078,430	290	246	261		907	-1.5	0.4	17	dbSNP_52	261	3385,5215	641.6+/-399.7	689,2007,1604	yes	missense	KRT23	NM_015515.3	58	1384,3085,2034	CC,CT,TT		39.3605,43.9855,45.0023	benign	303/423	39084504	5853,7153	2203	4300	6503	SO:0001583	missense	25984	exon6			ACTGTGTCTGCAG	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.907A>G	17.37:g.39084504T>C	ENSP00000209718:p.Thr303Ala	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	191	189	0.989529	NM_015515	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	CCDS11380.1	1224	0.5604395604395604	290	0.5894308943089431	204	0.56353591160221	425	0.743006993006993	305	0.4023746701846966	C	7.644	0.681559	0.14907	0.560145	0.393605	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.87887	-2.31;-2.31	5.79	-1.48	0.08745	Filament (1);	0.259681	0.27388	N	0.019584	T	0.00012	0.0000	N	0.00980	-1.08	0.54753	P	1.399999999995849E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.37502	-0.9703	9	0.07030	T	0.85	.	8.4899	0.33093	0.0999:0.3939:0.0:0.5062	rs9257;rs1127662;rs2285818;rs3183856;rs11545730;rs17342108;rs17349802;rs52825935;rs56695583;rs9257	303	Q9C075	K1C23_HUMAN	A	303;166	ENSP00000209718:T303A;ENSP00000414056:T166A	ENSP00000209718:T303A	T	-	1	0	KRT23	36338030	0.800000	0.28916	0.368000	0.25939	0.605000	0.37080	0.423000	0.21313	-0.303000	0.08856	-0.726000	0.03593	ACA	T|0.485;C|0.515	0.515	strong		0.577	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			C	39084504	T	C	39084504	3	2	22	1	0	0	0	0	1	0	0	0	8460	1667	58	2	377	2	KRT23	17	39084504	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2791	39084504	42110706	8767	13875										
KRT39	390792	hgsc.bcm.edu	37	chr17	39114962	39114962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaaattttaaccagtatcCgggacaggggtccgcaggca	12	10	0	0	rs7213256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39114962C>T	ENST00000355612.2	-	7	1402	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	456	Tail.		R -> Q (in dbSNP:rs7213256). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15617563}.			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AACCAGTATCCGGGACAGGGG	0.522													C|||	1248	0.249201	0.5408	0.1902	5008	,	,		18783	0.0327		0.161	False		,,,				2504	0.2106				p.R456Q		Atlas-SNP	.											KRT39,colon,carcinoma,0,1	KRT39	53	1	0			c.G1367A						PASS	.	C	GLN/ARG	2085,2321	571.7+/-383.1	488,1109,606	112	104	107		1367	1	0.1	17	dbSNP_116	107	1364,7228	265.0+/-285.9	110,1144,3042	yes	missense	KRT39	NM_213656.3	43	598,2253,3648	TT,TC,CC		15.8752,47.3218,26.5349	probably-damaging	456/492	39114962	3449,9549	2203	4296	6499	SO:0001583	missense	390792	exon7			AGTATCCGGGACA	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1367G>A	17.37:g.39114962C>T	ENSP00000347823:p.Arg456Gln	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	145	55	0.37931	NM_213656	B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	CCDS11382.1	469	0.21474358974358973	260	0.5284552845528455	65	0.17955801104972377	23	0.04020979020979021	121	0.15963060686015831	C	16.04	3.008632	0.54361	0.473218	0.158752	ENSG00000196859	ENST00000355612	D	0.82081	-1.57	5.54	1.04	0.20106	.	0.000000	0.36167	N	0.002746	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	B	0.28880	0.226	B	0.14578	0.011	T	0.44892	-0.9298	9	0.16896	T	0.51	.	5.8871	0.18888	0.0:0.5356:0.2959:0.1685	rs7213256	456	Q6A163	K1C39_HUMAN	Q	456	ENSP00000347823:R456Q	ENSP00000347823:R456Q	R	-	2	0	KRT39	36368488	0.946000	0.32159	0.066000	0.19879	0.914000	0.54420	0.213000	0.17521	0.280000	0.22209	0.655000	0.94253	CGG	C|0.741;T|0.259	0.259	strong		0.522	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		T	39114962	C	T	39114962	3	4	22	1	0	0	0	0	1	0	0	0	8476	652	23	1	112	1	KRT39	17	39114962	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30458	39114962	42080248	8768	13876										
KRT40	125115	hgsc.bcm.edu	37	chr17	39134528	39134528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcgaggtgcatgtggtcGaacatgggctacaggaaagc	15	8	0	0	rs16968862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39134528G>A	ENST00000398486.2	-	9	1377	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	AC004231.2_ENST00000418393.1_RNA|KRT40_ENST00000377755.4_Missense_Mutation_p.S406L	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	406	Tail.		S -> L (in dbSNP:rs16968862).			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GCATGTGGTCGAACATGGGCT	0.438													G|||	743	0.148363	0.2451	0.1037	5008	,	,		19413	0.0317		0.1292	False		,,,				2504	0.1892				p.S406L		Atlas-SNP	.											.	KRT40	27	.	0			c.C1217T						PASS	.	G	LEU/SER	786,3080		76,634,1223	100	110	107		1217	5.2	0	17	dbSNP_123	107	1061,7227		79,903,3162	yes	missense	KRT40	NM_182497.3	145	155,1537,4385	AA,AG,GG		12.8016,20.3311,15.1966	benign	406/432	39134528	1847,10307	1933	4144	6077	SO:0001583	missense	125115	exon9			GTGGTCGAACATG	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1217C>T	17.37:g.39134528G>A	ENSP00000381500:p.Ser406Leu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	83	28	0.337349	NM_182497	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	285	0.1304945054945055	122	0.24796747967479674	38	0.10497237569060773	22	0.038461538461538464	103	0.1358839050131926	G	14.84	2.655613	0.47467	0.203311	0.128016	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.82893	-1.66;-1.66	5.2	5.2	0.72013	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	P	0.51240	0.943	B	0.44085	0.44	T	0.08743	-1.0707	8	0.54805	T	0.06	.	14.5864	0.68328	0.0:0.0:1.0:0.0	rs16968862	406	Q6A162	K1C40_HUMAN	L	406	ENSP00000366984:S406L;ENSP00000381500:S406L	ENSP00000366984:S406L	S	-	2	0	KRT40	36388054	0.173000	0.23056	0.016000	0.15963	0.060000	0.15804	4.394000	0.59671	2.584000	0.87258	0.650000	0.86243	TCG	G|0.870;A|0.130	0.130	strong		0.438	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		A	39134528	G	A	39134528	3	1	22	1	0	0	0	0	1	0	0	0	8478	1059	37	1	82	1	KRT40	17	39134528	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19566	39134528	42060682	8769	13877										
KRTAP3-3	85293	hgsc.bcm.edu	37	chr17	39150284	39150284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagcggcaggatttgtcAgaggagcagatggtggtggc	17	8	1	2	rs2010201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39150284A>G	ENST00000391586.1	-	1	101	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	22	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				AGGATTTGTCAGAGGAGCAGA	0.582													A|||	2379	0.47504	0.6377	0.4784	5008	,	,		17574	0.5		0.2913	False		,,,				2504	0.4162				p.S22S		Atlas-SNP	.											.	KRTAP3-3	11	.	0			c.T66C						PASS	.	A		2510,1896	625.1+/-394.5	720,1070,413	90	90	90		66	-11.2	0	17	dbSNP_92	90	2274,6318	374.7+/-337.5	295,1684,2317	no	coding-synonymous	KRTAP3-3	NM_033185.2		1015,2754,2730	GG,GA,AA		26.4665,43.0322,36.8057		22/99	39150284	4784,8214	2203	4296	6499	SO:0001819	synonymous_variant	85293	exon1			TTTGTCAGAGGAG	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.66T>C	17.37:g.39150284A>G		Somatic	274	1	0.00364964		WXS	Illumina HiSeq	Phase_I	355	207	0.583099	NM_033185	Q52LP0|Q6NTD4	Silent	SNP	ENST00000391586.1	37	CCDS32643.1																																																																																			A|0.598;G|0.402	0.402	strong		0.582	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			G	39150284	A	G	39150284	2	3	22	1	0	0	0	0	0	0	0	1	8547	175	7	3		3	KRTAP3-3	17	39150284	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15756	39150284	42044926	8770	13878										
KRTAP3-2	83897	hgsc.bcm.edu	37	chr17	39155881	39155881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgagggtctccaggccCggagttggctggcaggagtt	18	8	1	1	rs3813048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39155881C>T	ENST00000391587.1	-	1	257	c.225G>A	c.(223-225)ccG>ccA	p.P75P		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	75						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TCTCCAGGCCCGGAGTTGGCT	0.622													T|||	1498	0.299121	0.6112	0.2061	5008	,	,		17181	0.2312		0.1223	False		,,,				2504	0.1953				p.P75P		Atlas-SNP	.											.	KRTAP3-2	11	.	0			c.G225A						PASS	.						61	79	73					17																	39155881		2201	4296	6497	SO:0001819	synonymous_variant	83897	exon1			CAGGCCCGGAGTT	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.225G>A	17.37:g.39155881C>T		Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	216	65	0.300926	NM_031959		Silent	SNP	ENST00000391587.1	37	CCDS32644.1																																																																																			C|0.778;T|0.222	0.222	strong		0.622	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			T	39155881	C	T	39155881	2	4	22	1	0	0	0	0	0	0	0	1	8546	639	23	1		1	KRTAP3-2	17	39155881	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5597	39155881	42039329	8771	13879										
KRTAP3-2	83897	hgsc.bcm.edu	37	chr17	39156067	39156067	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatggtggtggcaggcccAgtggggacactgcagctgcg	18	10	0	1	rs9890989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39156067A>G	ENST00000391587.1	-	1	71	c.39T>C	c.(37-39)acT>acC	p.T13T		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	13	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TGGCAGGCCCAGTGGGGACAC	0.562													.|||	1497	0.298922	0.6112	0.2075	5008	,	,		17956	0.2302		0.1223	False		,,,				2504	0.1943				p.T13T		Atlas-SNP	.											.	KRTAP3-2	11	.	0			c.T39C						PASS	.	G		1929,2475		584,761,857	62	79	73		39	-5.6	0.8	17	dbSNP_119	73	635,7957		41,553,3702	no	coding-synonymous	KRTAP3-2	NM_031959.2		625,1314,4559	GG,GA,AA		7.3906,43.8011,19.7291		13/99	39156067	2564,10432	2202	4296	6498	SO:0001819	synonymous_variant	83897	exon1			AGGCCCAGTGGGG	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.39T>C	17.37:g.39156067A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	191	64	0.335079	NM_031959		Silent	SNP	ENST00000391587.1	37	CCDS32644.1																																																																																			A|0.750;G|0.250	0.250	strong		0.562	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			G	39156067	A	G	39156067	2	3	22	1	0	0	0	0	0	0	0	1	8546	175	7	3		3	KRTAP3-2	17	39156067	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	186	39156067	42039143	8772	13880										
KRTAP3-2	83897	hgsc.bcm.edu	37	chr17	39156084	39156084	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagtggggacactgcagcTgcgagaggcacagcaatcca					rs386797022|rs9897046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39156084T>C	ENST00000391587.1	-	1	54	c.22A>G	c.(22-24)Agc>Ggc	p.S8G		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	8	3 X 5 AA repeats of C-C-X(3).		S -> G (in dbSNP:rs9897046).			keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				ACACTGCAGCTGCGAGAGGCA	0.557													.|||	1497	0.298922	0.6112	0.2061	5008	,	,		18132	0.2312		0.1223	False		,,,				2504	0.1943				p.S8G		Atlas-SNP	.											.	KRTAP3-2	11	.	0			c.A22G						PASS	.	C	GLY/SER	1814,2592		562,690,951	65	76	72		22	-0.5	0.1	17	dbSNP_119	72	766,7826		42,682,3572	no	missense	KRTAP3-2	NM_031959.2	56	604,1372,4523	CC,CT,TT		8.9153,41.1711,19.8492	benign	8/99	39156084	2580,10418	2203	4296	6499	SO:0001583	missense	83897	exon1			TGCAGCTGCGAGA	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.22A>G	17.37:g.39156084T>C	ENSP00000375429:p.Ser8Gly	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	178	61	0.342697	NM_031959		Missense_Mutation	SNP	ENST00000391587.1	37	CCDS32644.1	575	0.2632783882783883	275	0.5589430894308943	68	0.1878453038674033	143	0.25	89	0.11741424802110818	C	0.013	-1.614825	0.00835	0.411711	0.089153	ENSG00000212900	ENST00000391587	T	0.24350	1.86	5.76	-0.514	0.11958	.	0.289408	0.30356	N	0.009810	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	8	0.30078	T	0.28	.	9.5685	0.39414	0.2876:0.5656:0.0:0.1468	rs9897046	8	Q9BYR7	KRA32_HUMAN	G	8	ENSP00000375429:S8G	ENSP00000375429:S8G	S	-	1	0	KRTAP3-2	36409610	0.300000	0.24435	0.100000	0.21137	0.009000	0.06853	-0.147000	0.10234	-0.762000	0.04664	-4.665000	0.00003	AGC	C|0.266;N|0.000	0.266	strong		0.557	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			C	39156084	T	C	39156084	3	2	22	1	0	0	0	0	1	0	0	0	8546	1580	55	3	278	3	KRTAP3-2	17	39156084	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17	39156084	42039126	8773	13881	288	2								
KRTAP3-2	83897	hgsc.bcm.edu	37	chr17	39156085	39156085	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtggggacactgcagctGcgagaggcacagcaatccat					rs386797022|rs548322379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39156085G>T	ENST00000391587.1	-	1	53	c.21C>A	c.(19-21)cgC>cgA	p.R7R		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	7	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R7R(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				CACTGCAGCTGCGAGAGGCAC	0.552													.|||	307	0.0613019	0.2216	0.0173	5008	,	,		18167	0.0		0.002	False		,,,				2504	0.0				p.R7R		Atlas-SNP	.											KRTAP3-2,rectum,carcinoma,0,1	KRTAP3-2	11	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C21A						PASS	.						65	75	72					17																	39156085		2203	4296	6499	SO:0001819	synonymous_variant	83897	exon1			GCAGCTGCGAGAG	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.21C>A	17.37:g.39156085G>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	174	58	0.333333	NM_031959		Silent	SNP	ENST00000391587.1	37	CCDS32644.1																																																																																			.	.	none		0.552	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			T	39156085	G	T	39156085	2	4	22	1	0	0	0	0	0	0	0	1	8546	1306	46	4		4	KRTAP3-2	17	39156085	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	39156085	42039125	8774	13882	288	2								
KRTAP1-5	83895	hgsc.bcm.edu	37	chr17	39183304	39183304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggcagctgcgtggctggCagcagctggtctcacagcag	15	12	2	0	rs62623375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39183304C>T	ENST00000361883.5	-	1	150	c.104G>A	c.(103-105)tGc>tAc	p.C35Y		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	35	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGTGGCTGGCAGCAGCTGGT	0.607													c|||	536	0.107029	0.1891	0.1167	5008	,	,		18047	0.1627		0.0169	False		,,,				2504	0.0245				p.C35Y		Atlas-SNP	.											.	KRTAP1-5	33	.	0			c.G104A						PASS	.	C	TYR/CYS	555,3407		36,483,1462	37	44	42		104	2.2	1	17	dbSNP_129	42	124,8218		6,112,4053	yes	missense	KRTAP1-5	NM_031957.1	194	42,595,5515	TT,TC,CC		1.4865,14.0081,5.5185	benign	35/175	39183304	679,11625	1981	4171	6152	SO:0001583	missense	83895	exon1			GGCTGGCAGCAGC	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.104G>A	17.37:g.39183304C>T	ENSP00000355302:p.Cys35Tyr	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	182	74	0.406593	NM_031957	A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	CCDS42321.1	256	0.11721611721611722	108	0.21951219512195122	31	0.0856353591160221	100	0.17482517482517482	17	0.022427440633245383	C	10.66	1.411519	0.25465	0.140081	0.014865	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.50001	0.76	2.17	2.17	0.27698	.	.	.	.	.	T	0.00039	0.0001	M	0.89163	3.01	0.35879	P	0.17119600000000001	B	0.21606	0.058	B	0.19391	0.025	T	0.16305	-1.0407	8	0.87932	D	0	.	10.0021	0.41935	0.0:1.0:0.0:0.0	rs62623375	35	Q9BYS1	KRA15_HUMAN	Y	35	ENSP00000355302:C35Y	ENSP00000355302:C35Y	C	-	2	0	KRTAP1-5	36436830	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	1.035000	0.30216	1.246000	0.43901	0.511000	0.50034	TGC	C|0.882;T|0.118	0.118	strong		0.607	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			T	39183304	C	T	39183304	3	4	22	1	0	0	0	0	1	0	0	0	8504	710	25	2	424	2	KRTAP1-5	17	39183304	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27219	39183304	42011906	8775	13883										
KRTAP1-3	81850	hgsc.bcm.edu	37	chr17	39190830	39190830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaatgccacagccagttcCgcaggagctggtctggcagc	12	14	1	0	rs62622849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39190830C>T	ENST00000344363.5	-	1	277	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	92			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCCAGTTCCGCAGGAGCTG	0.622													c|||	535	0.106829	0.1891	0.1167	5008	,	,		19249	0.1627		0.0159	False		,,,				2504	0.0245				p.G82R		Atlas-SNP	.											.	KRTAP1-3	18	.	0			c.G244A						PASS	.	C	ARG/GLY	578,3410		38,502,1454	29	33	32		244	1.9	0	17	dbSNP_129	32	120,8216		6,108,4054	no	missense	KRTAP1-3	NM_030966.1	125	44,610,5508	TT,TC,CC		1.4395,14.4935,5.6637	benign	82/168	39190830	698,11626	1994	4168	6162	SO:0001583	missense	81850	exon1			CAGTTCCGCAGGA	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.244G>A	17.37:g.39190830C>T	ENSP00000344420:p.Gly82Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	141	70	0.496454	NM_030966	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	245	0.11217948717948718	103	0.20934959349593496	31	0.0856353591160221	99	0.17307692307692307	12	0.0158311345646438	C	0.345	-0.948215	0.02304	0.144935	0.014395	ENSG00000221880	ENST00000344363	T	0.29397	1.57	3.98	1.86	0.25419	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.18863	0.031	B	0.12156	0.007	T	0.38286	-0.9668	7	0.13853	T	0.58	.	5.4908	0.16774	0.0:0.601:0.2804:0.1186	rs62622849	92	Q8IUG1	KRA13_HUMAN	R	82	ENSP00000344420:G82R	ENSP00000344420:G82R	G	-	1	0	KRTAP1-3	36444356	0.985000	0.35326	0.002000	0.10522	0.017000	0.09413	-0.586000	0.05787	0.389000	0.25086	-0.126000	0.14955	GGA	C|0.888;T|0.112	0.112	strong		0.622	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			T	39190830	C	T	39190830	3	4	22	1	0	0	0	0	1	0	0	0	8503	661	23	1	263	1	KRTAP1-3	17	39190830	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7526	39190830	42004380	8776	13884										
KRTAP1-3	81850	hgsc.bcm.edu	37	chr17	39190973	39190973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcagcttggctggcagCagctggtctcacagcagctt	14	12	1	0	rs62624960		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39190973C>G	ENST00000344363.5	-	1	134	c.101G>C	c.(100-102)tGc>tCc	p.C34S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	34			C -> S (in dbSNP:rs62624960). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGCAGCTGGTCTC	0.602																																					p.C34S		Atlas-SNP	.											.	KRTAP1-3	18	.	0			c.G101C						PASS	.						34	43	40					17																	39190973		1963	4159	6122	SO:0001583	missense	81850	exon1			TGGCAGCAGCTGG	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.101G>C	17.37:g.39190973C>G	ENSP00000344420:p.Cys34Ser	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	228	51	0.223684	NM_030966	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	161	0.07371794871794872	55	0.11178861788617886	22	0.06077348066298342	68	0.11888111888111888	16	0.021108179419525065	C	10.25	1.297905	0.23650	.	.	ENSG00000221880	ENST00000344363	T	0.48522	0.81	3.51	1.46	0.22682	.	.	.	.	.	T	0.00552	0.0018	.	.	.	0.35701	D	0.815636	B	0.06786	0.001	B	0.12837	0.008	T	0.10776	-1.0615	8	0.66056	D	0.02	.	9.8065	0.40797	0.0:0.5894:0.4106:0.0	rs62624960	44	Q8IUG1	KRA13_HUMAN	S	34	ENSP00000344420:C34S	ENSP00000344420:C34S	C	-	2	0	KRTAP1-3	36444499	1.000000	0.71417	0.998000	0.56505	0.388000	0.30384	1.383000	0.34385	0.470000	0.27294	-0.217000	0.12591	TGC	C|0.926;G|0.074	0.074	strong		0.602	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			G	39190973	C	G	39190973	3	3	22	1	0	0	0	0	1	0	0	0	8503	710	25	4	406	4	KRTAP1-3	17	39190973	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	143	39190973	42004237	8777	13885										
KRTAP1-3	81850	hgsc.bcm.edu	37	chr17	39191003	39191003	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagcagcttggctggcagCagctggagccgcatgtccca	13	14	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39191003C>G	ENST00000344363.5	-	1	104	c.71G>C	c.(70-72)tGc>tCc	p.C24S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	24						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGCAGCTGGAGCC	0.592																																					p.C24S		Atlas-SNP	.											KRTAP1-3,NS,carcinoma,0,1	KRTAP1-3	18	1	0			c.G71C						scavenged	.						37	45	42					17																	39191003		1971	4166	6137	SO:0001583	missense	81850	exon1			TGGCAGCAGCTGG	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.71G>C	17.37:g.39191003C>G	ENSP00000344420:p.Cys24Ser	Somatic	234	2	0.00854701		WXS	Illumina HiSeq	Phase_I	236	18	0.0762712	NM_030966	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535706	0.45176	.	.	ENSG00000221880	ENST00000344363	T	0.30448	1.53	4.11	3.14	0.36123	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.36497	D	0.868786	D	0.65815	0.995	D	0.73708	0.981	T	0.59445	-0.7453	8	0.72032	D	0.01	.	7.8183	0.29274	0.0:0.8874:0.0:0.1126	.	34	Q8IUG1	KRA13_HUMAN	S	24	ENSP00000344420:C24S	ENSP00000344420:C24S	C	-	2	0	KRTAP1-3	36444529	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	0.952000	0.29149	1.303000	0.44873	0.563000	0.77884	TGC	.	.	none		0.592	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			G	39191003	C	G	39191003	3	3	22	1	0	0	0	0	1	0	0	0	8503	710	25	4	436	4	KRTAP1-3	17	39191003	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30	39191003	42004207	8778	13886										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197248	39197248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtgtgcagctcaccacGcagcaggggggcaggcaggt	20	10	1	0	rs570985299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39197248G>A	ENST00000306271.4	-	1	465	c.402C>T	c.(400-402)tgC>tgT	p.C134C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	134						keratin filament (GO:0045095)		p.C134C(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTCACCACGCAGCAGGGGG	0.672													a|||	3	0.000599042	0.0008	0.0	5008	,	,		16961	0.0		0.0	False		,,,				2504	0.002				p.C134C		Atlas-SNP	.											KRTAP1-1,NS,carcinoma,0,1	KRTAP1-1	23	1	1	Substitution - coding silent(1)	endometrium(1)	c.C402T						scavenged	.						24	29	27					17																	39197248		2078	4173	6251	SO:0001819	synonymous_variant	81851	exon1			CACCACGCAGCAG	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.402C>T	17.37:g.39197248G>A		Somatic	160	1	0.00625		WXS	Illumina HiSeq	Phase_I	186	2	0.0107527	NM_030967	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																			.	.	none		0.672	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197248	G	A	39197248	2	1	22	1	0	0	0	0	0	0	0	1	8502	1079	38	1		1	KRTAP1-1	17	39197248	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6245	39197248	41997962	8779	13887										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197501	39197638	+	In_Frame_Del	DEL	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccacagaagctggtctggCagcagcttggctggcagcag					rs201337527|rs28754643|rs138200823|rs202102709|rs200387980|rs563248221|rs141856614|rs145621540|rs140730427|rs541445273|rs184451637|rs368924344|rs371365111|rs188978965|rs200996142|rs530531259|rs367698389|rs146863522|rs375968978|rs369511015|rs150218495|rs201624038|rs112542604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39197501_39197638delCAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	ENST00000306271.4	-	1	75_212	c.12_149delTCAGACCAGCTTCTGTGGATTTCCCAGCTGCTCCACCAGTGGGACCTGCGGCTCCAGCTGCTGCCAGCCAAGCTGCTGTGAGACCAGCTCCTGCCAGCCACGCTGCTGTGAGACCAGCTGCTGCCAGCCAAGCTGCTG	c.(10-150)tgtcagaccagcttctgtggatttcccagctgctccaccagtgggacctgcggctccagctgctgccagccaagctgctgtgagaccagctcctgccagccacgctgctgtgagaccagctgctgccagccaagctgctgc>tgc	p.4_50CQTSFCGFPSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCC>C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	4			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)		p.S34C(6)|p.R38S(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGCAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGACAGCAGGCCA	0.571																																					p.5_50del		Pindel	.											.	KRTAP1-1	23	.	7	Substitution - Missense(7)	kidney(4)|lung(1)|NS(1)|prostate(1)	c.13_150del						PASS	.																																			SO:0001651	inframe_deletion	81851	exon1			.	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.12_149delTCAGACCAGCTTCTGTGGATTTCCCAGCTGCTCCACCAGTGGGACCTGCGGCTCCAGCTGCTGCCAGCCAAGCTGCTGTGAGACCAGCTCCTGCCAGCCACGCTGCTGTGAGACCAGCTGCTGCCAGCCAAGCTGCTG	17.37:g.39197501_39197638delCAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	ENSP00000305975:p.Cys4_Cys49del	Somatic	224	.	.		WXS	Illumina HiSeq	Phase_I	229	43	0.188	NM_030967	A6NC32|Q96S60|Q96S67	In_Frame_Del	DEL	ENST00000306271.4	37	CCDS42324.1																																																																																			.	.	none		0.571	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		-	39197638	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	-	39197501	7	5	22	1	0	1	0	1	0	0	0	0	8502	710	25	0	388	0	KRTAP1-1	17	39197501	In_Frame_Del	DEL	CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	TCGA-G8-6324-01A-11D-2210-10	253	39197501	41997709	8780	13888										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197609	39197609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaggtcccactggtggagCagctgggaaatccacagaag	14	11	0	1	rs138200823	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39197609C>A	ENST00000306271.4	-	1	104	c.41G>T	c.(40-42)tGc>tTc	p.C14F		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	14			PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGTGGAGCAGCTGGGAAA	0.597													c|||	498	0.0994409	0.1838	0.1124	5008	,	,		15162	0.1409		0.0169	False		,,,				2504	0.0184				p.C14F		Atlas-SNP	.											.	KRTAP1-1	23	.	0			c.G41T						PASS	.						45	55	52					17																	39197609		1959	4162	6121	SO:0001583	missense	81851	exon1			GTGGAGCAGCTGG	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.41G>T	17.37:g.39197609C>A	ENSP00000305975:p.Cys14Phe	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	184	46	0.25	NM_030967	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	108	0.04945054945054945	40	0.08130081300813008	18	0.049723756906077346	44	0.07692307692307693	6	0.0079155672823219	C	10.59	1.391756	0.25118	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.33216	1.42	4.56	2.52	0.30459	.	.	.	.	.	T	0.03136	0.0092	M	0.92604	3.325	0.27968	P	0.9365203	B	0.22146	0.065	B	0.20767	0.031	T	0.41734	-0.9492	8	0.66056	D	0.02	.	11.8299	0.52288	0.3171:0.6829:0.0:0.0	.	14	Q07627	KRA11_HUMAN	F	14	ENSP00000305975:C14F	ENSP00000305975:C14F	C	-	2	0	KRTAP1-1	36451135	0.993000	0.37304	0.993000	0.49108	0.637000	0.38172	0.435000	0.21510	0.840000	0.34995	-0.182000	0.12963	TGC	C|0.950;A|0.050	0.050	strong		0.597	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197609	C	A	39197609	3	1	22	1	0	0	0	0	1	0	0	0	8502	710	25	4	496	4	KRTAP1-1	17	39197609	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108	39197609	41997601	8781	13889										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197638	39197638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatccacagaagctggtctgAcagcaggccatggtgtcagg	13	10	2	2	rs112542604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39197638A>G	ENST00000306271.4	-	1	75	c.12T>C	c.(10-12)tgT>tgC	p.C4C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	4						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGTCTGACAGCAGGCCA	0.562													a|||	527	0.105232	0.1899	0.1153	5008	,	,		16504	0.1597		0.0169	False		,,,				2504	0.0184				p.C4C		Atlas-SNP	.											.	KRTAP1-1	23	.	0			c.T12C						PASS	.	A		553,3361		37,479,1441	49	54	53		12	-3.9	0	17	dbSNP_132	53	124,8182		5,114,4034	no	coding-synonymous	KRTAP1-1	NM_030967.2		42,593,5475	GG,GA,AA		1.4929,14.1288,5.5401		4/178	39197638	677,11543	1957	4153	6110	SO:0001819	synonymous_variant	81851	exon1			GGTCTGACAGCAG	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.12T>C	17.37:g.39197638A>G		Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	284	114	0.401408	NM_030967	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																			A|0.889;G|0.111	0.111	strong		0.562	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		G	39197638	A	G	39197638	2	3	22	1	0	0	0	0	0	0	0	1	8502	273	10	2		2	KRTAP1-1	17	39197638	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29	39197638	41997572	8782	13890										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240560	39240560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgctgtcagaccacctgTtgcaggaccacctgctaccg	10	15	1	1	rs200090467		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	34	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647																																					p.C34C		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-7	49	2	2	Substitution - coding silent(2)	endometrium(2)	c.T102C						scavenged	.						15	23	20					17																	39240560		691	1591	2282	SO:0001819	synonymous_variant	100132476	exon1			CACCTGTTGCAGG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.102T>C	17.37:g.39240560T>C		Somatic	97	1	0.0103093		WXS	Illumina HiSeq	Phase_I	127	14	0.110236	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	CCDS45673.1																																																																																			T|0.995;C|0.005	0.005	weak		0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			C	39240560	T	C	39240560	2	2	22	1	0	0	0	0	0	0	0	1	8555	1731	60	2		2	KRTAP4-7	17	39240560	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	42922	39240560	41954650	8783	13891										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240577	39240577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgttgcaggaccacctgctAccgccccagctgttgtgtgt	11	14	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39240577A>G	ENST00000391417.4	+	1	119	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	40	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ACCACCTGCTACCGCCCCAGC	0.657																																					p.Y40C		Atlas-SNP	.											.	KRTAP4-7	49	.	0			c.A119G						PASS	.						13	22	19					17																	39240577		692	1590	2282	SO:0001583	missense	100132476	exon1			CCTGCTACCGCCC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.119A>G	17.37:g.39240577A>G	ENSP00000375236:p.Tyr40Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	135	16	0.118519	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.883871	0.00061	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00666	5.91	3.63	1.53	0.23141	.	0.603408	0.12340	N	0.477557	T	0.00412	0.0013	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44390	-0.9331	9	0.02654	T	1	.	5.5941	0.17317	0.2179:0.1587:0.6234:0.0	.	40	Q9BYR0	KRA47_HUMAN	C	40	ENSP00000375236:Y40C	ENSP00000375236:Y40C	Y	+	2	0	KRTAP4-9;KRTAP4-7	36494103	0.873000	0.30073	0.022000	0.16811	0.001000	0.01503	1.032000	0.30178	-0.124000	0.11724	-2.594000	0.00164	TAC	.	.	none		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240577	A	G	39240577	3	3	22	1	0	0	0	0	1	0	0	0	8555	391	14	2	121	2	KRTAP4-7	17	39240577	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17	39240577	41954633	8784	13892										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240611	39240611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgtccagctgctgcagGccccagtgctgccagtctgt	13	13	1	0	rs529043715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39240611G>A	ENST00000391417.4	+	1	153	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	51	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGCTGCAGGCCCCAGTGCT	0.647													g|||	99	0.0197684	0.0726	0.0029	5008	,	,		18224	0.0		0.001	False		,,,				2504	0.0				p.R51R		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,+1,2	KRTAP4-7	49	2	0			c.G153A						PASS	.						15	24	21					17																	39240611		691	1591	2282	SO:0001819	synonymous_variant	100132476	exon1			CTGCAGGCCCCAG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.153G>A	17.37:g.39240611G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	176	35	0.198864	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.	.	none		0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240611	G	A	39240611	2	1	22	1	0	0	0	0	0	0	0	1	8555	1194	42	2		2	KRTAP4-7	17	39240611	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34	39240611	41954599	8785	13893										
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39253797	39253797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcagcagcaagaggaggcGcagcacacggggcgggggca	19	11	1	1	rs142150852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39253797G>A	ENST00000333822.4	-	1	596	c.540C>T	c.(538-540)tgC>tgT	p.C180C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	180					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AAGAGGAGGCGCAGCACACGG	0.602													g|||	249	0.0497204	0.1778	0.0159	5008	,	,		17550	0.002		0.001	False		,,,				2504	0.0				p.C180C		Atlas-SNP	.											KRTAP4-8,colon,carcinoma,-2,1	KRTAP4-8	57	1	0			c.C540T						PASS	.						69	80	76					17																	39253797		692	1591	2283	SO:0001819	synonymous_variant	728224	exon1			GGAGGCGCAGCAC	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.540C>T	17.37:g.39253797G>A		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	227	81	0.356828	NM_031960	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																			G|0.982;A|0.018	0.018	strong		0.602	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		A	39253797	G	A	39253797	2	1	22	1	0	0	0	0	0	0	0	1	8556	1079	38	1		1	KRTAP4-8	17	39253797	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13186	39253797	41941413	8786	13894			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39253819	39253819	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacacggggcgggggcagGtggagatgacacaggctggg	21	8	0	2	rs201814486	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39253819G>C	ENST00000333822.4	-	1	574	c.518C>G	c.(517-519)aCc>aGc	p.T173S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	173					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGGGGGCAGGTGGAGATGAC	0.632													G|||	264	0.0527157	0.1778	0.0231	5008	,	,		16542	0.0099		0.001	False		,,,				2504	0.002				p.T173S		Atlas-SNP	.											.	KRTAP4-8	57	.	0			c.C518G						PASS	.						53	64	61					17																	39253819		691	1591	2282	SO:0001583	missense	728224	exon1			GGGCAGGTGGAGA	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.518C>G	17.37:g.39253819G>C	ENSP00000328444:p.Thr173Ser	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	167	46	0.275449	NM_031960	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	5.072	0.198925	0.09652	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00590	6.36	3.73	2.73	0.32206	.	0.227898	0.21667	U	0.070931	T	0.00815	0.0027	L	0.35854	1.095	0.26449	N	0.975649	D	0.63046	0.992	P	0.57244	0.816	T	0.49597	-0.8923	10	0.07813	T	0.8	.	6.5126	0.22230	0.1366:0.0:0.8634:0.0	.	173	Q9BYQ9	KRA48_HUMAN	S	173;143	ENSP00000328444:T173S	ENSP00000414561:T143S	T	-	2	0	KRTAP4-8	36507345	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	2.706000	0.47135	1.794000	0.52575	0.449000	0.29647	ACC	.	.	weak		0.632	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		C	39253819	G	C	39253819	3	2	22	1	0	0	0	0	1	0	0	0	8556	1261	44	4	43	4	KRTAP4-8	17	39253819	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22	39253819	41941391	8787	13895			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39253931	39253931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggattcacagcaagaggggcGgcagcagctggagatgctgc	17	9	1	2	rs150613353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39253931G>A	ENST00000333822.4	-	1	462	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	136	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						caagaggggcggcagcagctg	0.662													G|||	232	0.0463259	0.1664	0.0159	5008	,	,		14984	0.0		0.001	False		,,,				2504	0.0				p.R136C		Atlas-SNP	.											.	KRTAP4-8	57	.	0			c.C406T						PASS	.						6	8	8					17																	39253931		682	1556	2238	SO:0001583	missense	728224	exon1			AGGGGCGGCAGCA	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.406C>T	17.37:g.39253931G>A	ENSP00000328444:p.Arg136Cys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_031960	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	75	0.034340659340659344	69	0.1402439024390244	6	0.016574585635359115	0	0.0	0	0.0	.	12.52	1.962330	0.34659	.	.	ENSG00000204880	ENST00000333822	T	0.01484	4.84	3.73	3.73	0.42828	.	1.159130	0.06715	U	0.773946	T	0.00039	0.0001	M	0.75447	2.3	0.32957	P	0.47942799999999997	B	0.29936	0.262	B	0.19666	0.026	T	0.33701	-0.9858	9	0.66056	D	0.02	.	7.5536	0.27812	0.1225:0.0:0.8775:0.0	.	136	Q9BYQ9	KRA48_HUMAN	C	136	ENSP00000328444:R136C	ENSP00000328444:R136C	R	-	1	0	KRTAP4-8	36507457	0.000000	0.05858	0.820000	0.32676	0.259000	0.26198	-1.031000	0.03578	1.794000	0.52575	0.449000	0.29647	CGC	G|0.966;A|0.034	0.034	strong		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		A	39253931	G	A	39253931	3	1	22	1	0	0	0	0	1	0	0	0	8556	1116	39	1	155	1	KRTAP4-8	17	39253931	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112	39253931	41941279	8788	13896			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254074	39254074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagctagggtggcagcagGtgggctggcagcacacagac	17	10	0	1	rs78662167		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39254074G>T	ENST00000333822.4	-	1	319	c.263C>A	c.(262-264)aCc>aAc	p.T88N		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	88	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GTGGCAGCAGGTGGGCTGGCA	0.662																																					p.T88N		Atlas-SNP	.											.	KRTAP4-8	57	.	0			c.C263A						PASS	.						7	11	10					17																	39254074		684	1571	2255	SO:0001583	missense	728224	exon1			CAGCAGGTGGGCT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.263C>A	17.37:g.39254074G>T	ENSP00000328444:p.Thr88Asn	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	133	19	0.142857	NM_031960	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990330	0.35131	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01464	4.86	3.31	-6.61	0.01818	.	.	.	.	.	T	0.02848	0.0085	M	0.87547	2.89	0.09310	N	0.999995	B	0.09022	0.002	B	0.08055	0.003	T	0.35674	-0.9779	9	0.52906	T	0.07	.	2.3202	0.04208	0.2779:0.4366:0.1148:0.1707	.	88	Q9BYQ9	KRA48_HUMAN	N	88;73	ENSP00000328444:T88N	ENSP00000414561:T73N	T	-	2	0	KRTAP4-8	36507600	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-5.373000	0.00127	-4.086000	0.00075	0.449000	0.29647	ACC	G|0.500;T|0.500	0.500	weak		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		T	39254074	G	T	39254074	3	4	22	1	0	0	0	0	1	0	0	0	8556	1261	44	4	298	4	KRTAP4-8	17	39254074	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	143	39254074	41941136	8789	13897			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254184	39254184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagactggcagcactggggTctgcagcagcaggacacact	13	12	1	1	rs7217470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39254184T>C	ENST00000333822.4	-	1	209	c.153A>G	c.(151-153)agA>agG	p.R51R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	51	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCACTGGGGTCTGCAGCAGC	0.652													T|||	241	0.048123	0.1732	0.0159	5008	,	,		15501	0.0		0.001	False		,,,				2504	0.0				p.R51R		Atlas-SNP	.											KRTAP4-8,NS,carcinoma,0,1	KRTAP4-8	57	1	0			c.A153G						scavenged	.	T		192,1192		14,164,514	14	17	16		153	-5.2	0	17	dbSNP_116	16	2,3172		0,2,1585	no	coding-synonymous	KRTAP4-8	NM_031960.2		14,166,2099	CC,CT,TT		0.063,13.8728,4.2563		51/186	39254184	194,4364	692	1587	2279	SO:0001819	synonymous_variant	728224	exon1			CTGGGGTCTGCAG	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.153A>G	17.37:g.39254184T>C		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	146	83	0.568493	NM_031960	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																			T|0.820;C|0.180	0.180	strong		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		C	39254184	T	C	39254184	2	2	22	1	0	0	0	0	0	0	0	1	8556	1664	58	2		2	KRTAP4-8	17	39254184	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110	39254184	41941026	8790	13898			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254318	39254318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtcagagcacacggagcCacaacaggagttgaccatgg	13	10	1	2	rs138296121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39254318C>T	ENST00000333822.4	-	1	75	c.19G>A	c.(19-21)Ggc>Agc	p.G7S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	7					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CACACGGAGCCACAACAGGAG	0.557													C|||	453	0.0904553	0.1392	0.1138	5008	,	,		18412	0.1508		0.0159	False		,,,				2504	0.0225				p.G7S		Atlas-SNP	.											.	KRTAP4-8	57	.	0			c.G19A						PASS	.	C	SER/GLY	146,1238		7,132,553	29	29	29		19	3.1	1	17	dbSNP_134	29	48,3134		0,48,1543	no	missense	KRTAP4-8	NM_031960.2	56	7,180,2096	TT,TC,CC		1.5085,10.5491,4.2488	possibly-damaging	7/186	39254318	194,4372	692	1591	2283	SO:0001583	missense	728224	exon1			CGGAGCCACAACA	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.19G>A	17.37:g.39254318C>T	ENSP00000328444:p.Gly7Ser	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	277	122	0.440433	NM_031960	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	217	0.09935897435897435	69	0.1402439024390244	36	0.09944751381215469	99	0.17307692307692307	13	0.017150395778364115	.	3.927	-0.016893	0.07681	0.105491	0.015085	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01272	5.07	3.1	3.1	0.35709	.	0.137136	0.32935	U	0.005468	T	0.00012	0.0000	L	0.52905	1.665	0.35623	P	0.19040400000000002	P	0.43094	0.799	B	0.40702	0.338	T	0.38714	-0.9648	9	0.08599	T	0.76	.	7.6799	0.28507	0.2519:0.7481:0.0:0.0	.	7	Q9BYQ9	KRA48_HUMAN	S	7	ENSP00000328444:G7S	ENSP00000414561:G7S	G	-	1	0	KRTAP4-8	36507844	1.000000	0.71417	0.999000	0.59377	0.195000	0.23768	1.980000	0.40618	1.733000	0.51620	0.449000	0.29647	GGC	C|0.900;T|0.100	0.100	strong		0.557	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		T	39254318	C	T	39254318	3	4	22	1	0	0	0	0	1	0	0	0	8556	594	21	2	542	2	KRTAP4-8	17	39254318	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	134	39254318	41940892	8791	13899			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39261717	39261717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtcaggagacctgctgccGccccagctgctgtgagacca	12	15	1	2	rs149483591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39261717G>A	ENST00000391415.1	+	1	134	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	26	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACCTGCTGCCGCCCCAGCTGC	0.647													G|||	272	0.0543131	0.1959	0.0173	5008	,	,		18818	0.0		0.001	False		,,,				2504	0.0				p.R26H		Atlas-SNP	.											KRTAP4-9,NS,carcinoma,+1,1	KRTAP4-9	110	1	0			c.G77A						scavenged	.	G	HIS/ARG	218,1166		12,194,486	16	21	19		77	-0.7	1	17	dbSNP_134	19	2,3178		0,2,1588	no	missense	KRTAP4-9	NM_001146041.1	29	12,196,2074	AA,AG,GG		0.0629,15.7514,4.8203	benign	26/211	39261717	220,4344	692	1590	2282	SO:0001583	missense	100132386	exon1			GCTGCCGCCCCAG	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.77G>A	17.37:g.39261717G>A	ENSP00000375234:p.Arg26His	Somatic	129	2	0.0155039		WXS	Illumina HiSeq	Phase_I	120	60	0.5	NM_001146041		Missense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	95	0.043498168498168496	89	0.18089430894308944	6	0.016574585635359115	0	0.0	0	0.0	.	10.53	1.376288	0.24857	0.157514	6.29E-4	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32515	1.45	3.31	-0.714	0.11219	.	.	.	.	.	T	0.00073	0.0002	M	0.79614	2.46	0.52099	P	5.999999999994898E-5	B	0.25521	0.128	B	0.20767	0.031	T	0.08310	-1.0728	8	0.37606	T	0.19	.	6.5459	0.22406	0.5339:0.0:0.4661:0.0	.	26	Q9BYQ8	KRA49_HUMAN	H	26	ENSP00000375234:R26H	ENSP00000334461:R26H	R	+	2	0	KRTAP4-9	36515243	0.000000	0.05858	0.986000	0.45419	0.476000	0.33039	-1.656000	0.01980	-0.101000	0.12219	0.194000	0.17425	CGC	G|0.956;A|0.044	0.044	strong		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39261717	G	A	39261717	3	1	22	1	0	0	0	0	1	0	0	0	8557	1087	38	1	79	1	KRTAP4-9	17	39261717	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7399	39261717	41933493	8792	13900			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	11	16	0	0	rs556157666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184				p.V46V		Atlas-SNP	.											KRTAP4-9,NS,carcinoma,0,1	KRTAP4-9	110	1	0			c.A138G						scavenged	.						15	22	20					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386	exon1			TTGTGTATCCAGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	85	23	0.270588	NM_001146041		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																			.	.	none		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		G	39261778	A	G	39261778	2	3	22	1	0	0	0	0	0	0	0	1	8557	436	16	2		2	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61	39261778	41933432	8793	13901			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39261793	39261793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtatccagctgctgcagGccccagtgctgccagtctgt	12	13	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39261793G>A	ENST00000391415.1	+	1	210	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	51	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGCTGCAGGCCCCAGTGCT	0.647																																					p.R51R		Atlas-SNP	.											.	KRTAP4-9	110	.	0			c.G153A						PASS	.						16	23	21					17																	39261793		686	1591	2277	SO:0001819	synonymous_variant	100132386	exon1			CTGCAGGCCCCAG	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.153G>A	17.37:g.39261793G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	76	14	0.184211	NM_001146041		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																			.	.	none		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39261793	G	A	39261793	2	1	22	1	0	0	0	0	0	0	0	1	8557	1194	42	2		2	KRTAP4-9	17	39261793	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15	39261793	41933417	8794	13902			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39261994	39261994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgacctgctgccaccctagGtgctgcatctccagctgctg	10	16	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39261994G>A	ENST00000391415.1	+	1	411	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	118	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCCACCCTAGGtgctgcatct	0.667																																					p.R118R		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-9	110	2	0			c.G354A						scavenged	.						26	30	29					17																	39261994		692	1591	2283	SO:0001819	synonymous_variant	100132386	exon1			CCCTAGGTGCTGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.354G>A	17.37:g.39261994G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	91	3	0.032967	NM_001146041		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																			.	.	none		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39261994	G	A	39261994	2	1	22	1	0	0	0	0	0	0	0	1	8557	1252	44	2		2	KRTAP4-9	17	39261994	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201	39261994	41933216	8795	13903			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39262091	39262091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgccagcccaactgctgcCgccccagctgcagcatctcc	9	20	1	0	rs571292694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39262091C>T	ENST00000391415.1	+	1	508	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	151	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						caactgctgccgccccagctg	0.662													C|||	26	0.00519169	0.0197	0.0	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0				p.R151C		Atlas-SNP	.											.	KRTAP4-9	110	.	0			c.C451T						PASS	.						5	8	7					17																	39262091		667	1548	2215	SO:0001583	missense	100132386	exon1			TGCTGCCGCCCCA	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.451C>T	17.37:g.39262091C>T	ENSP00000375234:p.Arg151Cys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	186	64	0.344086	NM_001146041		Missense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733214	0.30684	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00609	6.24	3.18	-6.36	0.01969	.	1.407670	0.05656	U	0.586011	T	0.00695	0.0023	M	0.69358	2.11	0.09310	N	0.999995	B	0.13594	0.008	B	0.06405	0.002	T	0.37033	-0.9723	10	0.54805	T	0.06	.	3.1538	0.06497	0.4027:0.2953:0.2179:0.0841	.	151	Q9BYQ8	KRA49_HUMAN	C	139;151;142	ENSP00000375234:R151C	ENSP00000334461:R142C	R	+	1	0	KRTAP4-9	36515617	0.000000	0.05858	0.000000	0.03702	0.674000	0.39518	-0.828000	0.04419	-3.015000	0.00271	-0.443000	0.05667	CGC	.	.	none		0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		T	39262091	C	T	39262091	3	4	22	1	0	0	0	0	1	0	0	0	8557	652	23	1	453	1	KRTAP4-9	17	39262091	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97	39262091	41933119	8796	13904			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39262109	39262138	+	In_Frame_Del	DEL	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgccccagctgcagcatcTccagctgctgccgcccctct					rs200757692|rs188946528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39262109_39262138delTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	ENST00000391415.1	+	1	526_555	c.469_498delTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	c.(469-498)tccagctgctgccgcccctcttgctgtgaadel	p.SSCCRPSCCE157del		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	157	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R149C(1)|p.R161C(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ctgcagcatctccagctgctgccgcccctcttgctgtgaatccagctgct	0.657														480	0.0958466	0.1634	0.1153	5008	,	,		24433	0.1458		0.0169	False		,,,				2504	0.0204				p.156_166del		Atlas-Indel	.											.	KRTAP4-9	110	.	2	Substitution - Missense(2)	endometrium(2)	c.468_497del						PASS	.			281,3501		42,197,1652						-1	0			9	86,7288		12,62,3613	no	coding	KRTAP4-9	NM_001146041.1		54,259,5265	A1A1,A1R,RR		1.1663,7.4299,3.2897				367,10789				SO:0001651	inframe_deletion	100132386	exon1			.	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.469_498delTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	17.37:g.39262109_39262138delTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	ENSP00000375234:p.Ser157_Glu166del	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	185	22	0.118919	NM_001146041		In_Frame_Del	DEL	ENST00000391415.1	37	CCDS54124.1																																																																																			.	.	none		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		-	39262138	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	-	39262109	7	5	22	1	0	1	0	1	0	0	0	0	8557	1551	54	0	471	0	KRTAP4-9	17	39262109	In_Frame_Del	DEL	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	TCGA-G8-6324-01A-11D-2210-10	18	39262109	41933101	8797	13905			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-9	100132386	hgsc.bcm.edu	37	chr17	39262121	39262121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcatctccagctgctgcCgcccctcttgctgtgaatcc	9	17	2	1	rs200757692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39262121C>T	ENST00000391415.1	+	1	538	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	161	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R149C(1)|p.R161C(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						cagctgctgccgcccctcttg	0.657																																					p.R161C		Atlas-SNP	.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-9	110	2	2	Substitution - Missense(2)	endometrium(2)	c.C481T						scavenged	.						7	11	10					17																	39262121		682	1570	2252	SO:0001583	missense	100132386	exon1			TGCTGCCGCCCCT	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.481C>T	17.37:g.39262121C>T	ENSP00000375234:p.Arg161Cys	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	151	17	0.112583	NM_001146041		Missense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	11.80	1.746361	0.30955	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00605	6.27	2.98	0.469	0.16741	.	0.000000	0.40640	U	0.001042	T	0.00552	0.0018	M	0.70275	2.135	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.50857	-0.8778	10	0.52906	T	0.07	.	1.9066	0.03278	0.202:0.4678:0.1985:0.1317	.	161	Q9BYQ8	KRA49_HUMAN	C	149;161;152	ENSP00000375234:R161C	ENSP00000334461:R152C	R	+	1	0	KRTAP4-9	36515647	0.000000	0.05858	0.321000	0.25320	0.226000	0.24999	-1.001000	0.03690	0.325000	0.23359	0.197000	0.17608	CGC	.	.	none		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		T	39262121	C	T	39262121	3	4	22	1	0	0	0	0	1	0	0	0	8557	652	23	1	483	1	KRTAP4-9	17	39262121	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	39262121	41933089	8798	13906			29	58		13	13	8325	N	TCCAGCTGCTGCCGCCCCTCTTGCTGTGAA_T_G_C_A	6.492458e-05
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274161	39274161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagatgctgcagctggggTggcagcaggtgggctggcag	21	7	0	1	rs200329167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39274161T>C	ENST00000391413.2	-	1	445	c.407A>G	c.(406-408)cAc>cGc	p.H136R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	136	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggtggcagcaggt	0.662													t|||	497	0.0992412	0.174	0.1124	5008	,	,		19473	0.1478		0.0179	False		,,,				2504	0.0225				p.H136R		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,0,3	KRTAP4-11	94	3	0			c.A407G						scavenged	.						8	14	12					17																	39274161		684	1586	2270	SO:0001583	missense	653240	exon1			CTGGGGTGGCAGC	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.407A>G	17.37:g.39274161T>C	ENSP00000375232:p.His136Arg	Somatic	143	6	0.041958		WXS	Illumina HiSeq	Phase_I	129	52	0.403101	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.053	0.378142	0.11466	.	.	ENSG00000212721	ENST00000391413	T	0.01203	5.18	4.43	-4.18	0.03846	.	606.472000	0.01656	U	0.024837	T	0.00241	0.0007	N	0.00030	-2.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53365	-0.8449	10	0.02654	T	1	.	0.2042	0.00148	0.2921:0.2622:0.1441:0.3015	.	136	Q9BYQ6	KR411_HUMAN	R	136	ENSP00000375232:H136R	ENSP00000375232:H136R	H	-	2	0	KRTAP4-11	36527687	0.000000	0.05858	0.005000	0.12908	0.909000	0.53808	-1.036000	0.03560	-0.298000	0.08921	-0.540000	0.04249	CAC	T|0.500;C|0.500	0.500	weak		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			C	39274161	T	C	39274161	3	2	22	1	0	0	0	0	1	0	0	0	8549	1696	59	2	184	2	KRTAP4-11	17	39274161	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12040	39274161	41921049	8799	13907										
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274172	39274172	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctggggtggcagcaggtGggctggcagcacacagactg	18	10	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39274172G>T	ENST00000391413.2	-	1	434	c.396C>A	c.(394-396)ccC>ccA	p.P132P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	132	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggcagcaggtgggctggcagc	0.672																																					p.P132P		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,-2,2	KRTAP4-11	94	2	0			c.C396A						scavenged	.						7	12	11					17																	39274172		675	1578	2253	SO:0001819	synonymous_variant	653240	exon1			GCAGGTGGGCTGG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.396C>A	17.37:g.39274172G>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	138	4	0.0289855	NM_033059	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.	.	none		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274172	G	T	39274172	2	4	22	1	0	0	0	0	0	0	0	1	8549	1335	47	4		4	KRTAP4-11	17	39274172	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11	39274172	41921038	8800	13908										
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274212	39274212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagcactggggtctgcagCagctggacacacagcagctg	15	12	1	0	rs187464255	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39274212C>T	ENST00000391413.2	-	1	394	c.356G>A	c.(355-357)tGc>tAc	p.C119Y		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	119	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gggtctgcagcagctggacac	0.652													c|||	125	0.0249601	0.0923	0.0029	5008	,	,		17401	0.0		0.001	False		,,,				2504	0.0				p.C119Y		Atlas-SNP	.											.	KRTAP4-11	94	.	0			c.G356A						PASS	.						4	8	7					17																	39274212		643	1521	2164	SO:0001583	missense	653240	exon1			CTGCAGCAGCTGG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.356G>A	17.37:g.39274212C>T	ENSP00000375232:p.Cys119Tyr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	118	37	0.313559	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	39	0.017857142857142856	36	0.07317073170731707	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	.	13.97	2.395614	0.42512	.	.	ENSG00000212721	ENST00000391413	T	0.03717	3.83	3.63	3.63	0.41609	.	.	.	.	.	T	0.01489	0.0048	H	0.95365	3.66	0.34837	D	0.740315	P	0.46395	0.877	P	0.54544	0.755	T	0.19063	-1.0317	9	0.72032	D	0.01	.	13.1597	0.59537	0.0:1.0:0.0:0.0	.	119	Q9BYQ6	KR411_HUMAN	Y	119	ENSP00000375232:C119Y	ENSP00000375232:C119Y	C	-	2	0	KRTAP4-11	36527738	0.060000	0.20803	0.929000	0.37066	0.073000	0.16967	0.773000	0.26661	1.757000	0.51966	0.514000	0.50259	TGC	C|0.982;T|0.018	0.018	strong		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274212	C	T	39274212	3	4	22	1	0	0	0	0	1	0	0	0	8549	710	25	2	235	2	KRTAP4-11	17	39274212	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40	39274212	41920998	8801	13909										
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274360	39274360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacagcagctggagatgcAgcatctggggcggcagcagg	18	10	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39274360A>T	ENST00000391413.2	-	1	246	c.208T>A	c.(208-210)Tgc>Agc	p.C70S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	70	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGAGATGCAGCATCTGGGG	0.667																																					p.C70S		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,0,1	KRTAP4-11	94	1	0			c.T208A						scavenged	.						7	12	11					17																	39274360		677	1580	2257	SO:0001583	missense	653240	exon1			AGATGCAGCATCT	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.208T>A	17.37:g.39274360A>T	ENSP00000375232:p.Cys70Ser	Somatic	189	2	0.010582		WXS	Illumina HiSeq	Phase_I	169	15	0.0887574	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219303	0.39201	.	.	ENSG00000212721	ENST00000391413	T	0.02280	4.36	3.77	1.34	0.21922	.	0.000000	0.36972	U	0.002304	T	0.04770	0.0129	M	0.90252	3.1	0.23636	N	0.997233	B	0.17268	0.021	B	0.17722	0.019	T	0.23048	-1.0199	10	0.54805	T	0.06	.	4.9719	0.14119	0.7038:0.1861:0.1101:0.0	.	70	Q9BYQ6	KR411_HUMAN	S	70	ENSP00000375232:C70S	ENSP00000375232:C70S	C	-	1	0	KRTAP4-11	36527886	0.844000	0.29557	0.494000	0.27515	0.120000	0.20174	1.052000	0.30429	0.644000	0.30656	0.496000	0.49642	TGC	.	.	none		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274360	A	T	39274360	3	4	22	1	0	0	0	0	1	0	0	0	8549	188	7	5	383	5	KRTAP4-11	17	39274360	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	148	39274360	41920850	8802	13910										
KRTAP4-12	83755	hgsc.bcm.edu	37	chr17	39279921	39279921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggattcacagcaagaggggcAgcagctgctggagatgcagc	16	9	1	2	rs623410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39279921A>G	ENST00000394014.1	-	1	498	c.454T>C	c.(454-456)Tgc>Cgc	p.C152R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	152	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caagaggggcagcagctgctg	0.657													G|||	968	0.193291	0.5121	0.1455	5008	,	,		14860	0.1498		0.0179	False		,,,				2504	0.0215				p.C152R		Atlas-SNP	.											.	KRTAP4-12	32	.	0			c.T454C						PASS	.	G	ARG/CYS	1750,2646		365,1020,813	17	23	21		454	0	0	17	dbSNP_83	21	129,8447		5,119,4164	no	missense	KRTAP4-12	NM_031854.2	180	370,1139,4977	GG,GA,AA		1.5042,39.8089,14.485	benign	152/202	39279921	1879,11093	2198	4288	6486	SO:0001583	missense	83755	exon1			AGGGGCAGCAGCT	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.454T>C	17.37:g.39279921A>G	ENSP00000377582:p.Cys152Arg	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	131	128	0.977099	NM_031854	A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	CCDS32649.1	398	0.18223443223443223	242	0.491869918699187	45	0.12430939226519337	97	0.16958041958041958	14	0.018469656992084433	.	0.005	-2.206372	0.00292	0.398089	0.015042	ENSG00000213416	ENST00000394014	T	0.01185	5.21	4.99	0.0438	0.14223	.	.	.	.	.	T	0.00012	0.0000	N	0.00031	-2.6	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.30446	-0.9978	8	0.02654	T	1	.	6.0206	0.19626	0.0815:0.506:0.2817:0.1308	rs623410	152	Q9BQ66	KR412_HUMAN	R	152	ENSP00000377582:C152R	ENSP00000377582:C152R	C	-	1	0	KRTAP4-12	36533447	0.000000	0.05858	0.004000	0.12327	0.147000	0.21601	-1.047000	0.03521	-0.041000	0.13558	-0.320000	0.08662	TGC	A|0.835;G|0.165	0.165	strong		0.657	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			G	39279921	A	G	39279921	3	3	22	1	0	0	0	0	1	0	0	0	8550	188	7	3	155	3	KRTAP4-12	17	39279921	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5561	39279921	41915289	8803	13911										
KRTAP4-12	83755	hgsc.bcm.edu	37	chr17	39280053	39280053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggtcctgcagcaggtggTctgacagcagctggggcggc	18	10	1	1	rs622950		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39280053T>A	ENST00000394014.1	-	1	366	c.322A>T	c.(322-324)Acc>Tcc	p.T108S		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	108	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCAGGTGGTCTGACAGCAG	0.677																																					p.T108S		Atlas-SNP	.											.	KRTAP4-12	32	.	0			c.A322T						PASS	.	T	SER/THR	1462,2916		98,1266,825	41	49	46		322	-0.6	0	17	dbSNP_83	46	137,8431		5,127,4152	no	missense	KRTAP4-12	NM_031854.2	58	103,1393,4977	AA,AT,TT		1.599,33.3942,12.3513	benign	108/202	39280053	1599,11347	2189	4284	6473	SO:0001583	missense	83755	exon1			AGGTGGTCTGACA	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.322A>T	17.37:g.39280053T>A	ENSP00000377582:p.Thr108Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	168	119	0.708333	NM_031854	A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	CCDS32649.1	365	0.1671245421245421	202	0.4105691056910569	46	0.1270718232044199	100	0.17482517482517482	17	0.022427440633245383	.	6.963	0.547632	0.13312	0.333942	0.01599	ENSG00000213416	ENST00000394014	T	0.00557	6.62	4.52	-0.636	0.11508	.	.	.	.	.	T	0.00012	0.0000	N	0.17594	0.5	0.58432	P	9.99999999995449E-6	B	0.06786	0.001	B	0.12156	0.007	T	0.01428	-1.1357	8	0.09084	T	0.74	.	7.4144	0.27036	0.0853:0.0:0.4573:0.4575	rs622950	108	Q9BQ66	KR412_HUMAN	S	108	ENSP00000377582:T108S	ENSP00000377582:T108S	T	-	1	0	KRTAP4-12	36533579	0.000000	0.05858	0.014000	0.15608	0.547000	0.35210	-1.287000	0.02785	0.061000	0.16311	0.375000	0.23000	ACC	T|0.831;A|0.169	0.169	strong		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			A	39280053	T	A	39280053	3	1	22	1	0	0	0	0	1	0	0	0	8550	1667	58	5	287	5	KRTAP4-12	17	39280053	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	132	39280053	41915157	8804	13912										
KRTAP4-12	83755	hgsc.bcm.edu	37	chr17	39280234	39280234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagactggcagcactggggCctgcagcagctggacacaca	13	13	0	1	rs611651		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39280234C>T	ENST00000394014.1	-	1	185	c.141G>A	c.(139-141)agG>agA	p.R47R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	47	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.687																																					p.R47R		Atlas-SNP	.											.	KRTAP4-12	32	.	0			c.G141A						PASS	.						27	50	42					17																	39280234		2006	4274	6280	SO:0001819	synonymous_variant	83755	exon1			CTGGGGCCTGCAG	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.141G>A	17.37:g.39280234C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	73	71	0.972603	NM_031854	A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	CCDS32649.1																																																																																			C|0.333;T|0.667	0.667	weak		0.687	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			T	39280234	C	T	39280234	2	4	22	1	0	0	0	0	0	0	0	1	8550	738	26	2		2	KRTAP4-12	17	39280234	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	181	39280234	41914976	8805	13913										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305760	39305760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcctgcagcaggtggtcCtgcagcaggtggtctggcag	17	10	1	0	rs427961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39305760C>T	ENST00000343246.4	-	1	294	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	87	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtcctgcagcaggt	0.657													T|||	184	0.0367412	0.1256	0.0086	5008	,	,		15710	0.001		0.001	False		,,,				2504	0.0102				p.R87K		Atlas-SNP	.											.	KRTAP4-5	34	.	0			c.G260A						PASS	.						17	23	21					17																	39305760		2133	4241	6374	SO:0001583	missense	85289	exon1			GTGGTCCTGCAGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.260G>A	17.37:g.39305760C>T	ENSP00000340546:p.Arg87Lys	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_033188		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	6.445	0.450231	0.12223	.	.	ENSG00000198271	ENST00000343246	T	0.00568	6.53	2.87	-5.75	0.02384	.	.	.	.	.	T	0.00468	0.0015	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43893	-0.9363	9	0.10111	T	0.7	.	5.8578	0.18730	0.1977:0.5979:0.0:0.2045	rs427961	92	Q9BYR2	KRA45_HUMAN	K	87	ENSP00000340546:R87K	ENSP00000340546:R87K	R	-	2	0	KRTAP4-5	36559286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.772000	0.04694	-2.052000	0.00902	-1.408000	0.01128	AGG	T|1.000;|0.000	1.000	weak		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			T	39305760	C	T	39305760	3	4	22	1	0	0	0	0	1	0	0	0	8554	681	24	2	289	2	KRTAP4-5	17	39305760	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25526	39305760	41889450	8806	13914										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305774	39305774	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtcctgcagcaggtggtCtggcagcagcaggggcggca					rs137947981		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39305774C>G	ENST00000343246.4	-	1	280	c.246G>C	c.(244-246)caG>caC	p.Q82H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagc	0.652																																					p.Q82H		Atlas-SNP	.											KRTAP4-5,NS,carcinoma,0,1	KRTAP4-5	34	1	1	Substitution - Missense(1)	lung(1)	c.G246C						PASS	.						14	21	19					17																	39305774		2102	4215	6317	SO:0001583	missense	85289	exon1			GGTGGTCTGGCAG	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.246G>C	17.37:g.39305774C>G	ENSP00000340546:p.Gln82His	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	86	50	0.581395	NM_033188		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	6.243	0.412973	0.11812	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	2.03	-0.354	0.12591	.	.	.	.	.	T	0.01320	0.0043	M	0.79693	2.465	0.09310	N	1	B	0.21147	0.052	B	0.35182	0.197	T	0.25950	-1.0117	9	0.45353	T	0.12	.	12.081	0.53671	0.0:0.7361:0.2639:0.0	.	87	Q9BYR2	KRA45_HUMAN	H	82	ENSP00000340546:Q82H	ENSP00000340546:Q82H	Q	-	3	2	KRTAP4-5	36559300	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-3.389000	0.00488	-0.371000	0.08004	-1.872000	0.00552	CAG	.	.	weak		0.652	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			G	39305774	C	G	39305774	3	3	22	1	0	0	0	0	1	0	0	0	8554	912	32	4	303	4	KRTAP4-5	17	39305774	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	39305774	41889436	8807	13915	289	2								
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcctgcagcaggtggtctINSggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192				p.Q82delinsRPSCCQ		Pindel	.											KRTAP4-5,NS,carcinoma,+1,1	KRTAP4-5	34	1	0			c.245_246insGCCCCAGCTGCTGCC						PASS	.																																			SO:0001652	inframe_insertion	85289	exon1			.	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic	137	.	.		WXS	Illumina HiSeq	Phase_I	90	26	0.289	NM_033188		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.	.	none		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GGCAGCAGCTGGGGC	39305776	-	GGCAGCAGCTGGGGC	39305775	7	5	22	1	0	1	1	0	0	0	0	0	8554	1580	55	0	304	0	KRTAP4-5	17	39305775	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1	39305775	41889435	8808	13916	289	2								
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305911	39305911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcttgcagcagctggggcGgcagcaggtggtcctgcagc	19	11	0	0	rs557154279|rs141058010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39305911G>A	ENST00000343246.4	-	1	143	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	37	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.657																																					p.R37C		Atlas-SNP	.											KRTAP4-5,NS,carcinoma,0,1	KRTAP4-5	34	1	0			c.C109T						scavenged	.						25	29	27					17																	39305911		2176	4272	6448	SO:0001583	missense	85289	exon1			TGGGGCGGCAGCA	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.109C>T	17.37:g.39305911G>A	ENSP00000340546:p.Arg37Cys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	193	5	0.0259067	NM_033188		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.844454	0.32606	.	.	ENSG00000198271	ENST00000343246	T	0.01455	4.87	3.22	-1.8	0.07907	.	2.080600	0.03668	U	0.243553	T	0.02767	0.0083	L	0.57536	1.79	0.18873	N	0.999989	B	0.18461	0.028	B	0.12837	0.008	T	0.47045	-0.9147	10	0.56958	D	0.05	.	5.7249	0.18008	0.1011:0.0:0.4232:0.4757	.	37	Q9BYR2	KRA45_HUMAN	C	37	ENSP00000340546:R37C	ENSP00000340546:R37C	R	-	1	0	KRTAP4-5	36559437	0.000000	0.05858	0.674000	0.29902	0.928000	0.56348	-0.202000	0.09451	-0.272000	0.09259	0.556000	0.70494	CGC	.	.	weak		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			A	39305911	G	A	39305911	3	1	22	1	0	0	0	0	1	0	0	0	8554	1116	39	1	440	1	KRTAP4-5	17	39305911	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136	39305911	41889299	8809	13917										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39306004	39306004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagagctgacagagccacAacaggagctgaccatggtgt	12	11	1	4	rs238829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39306004A>G	ENST00000343246.4	-	1	50	c.16T>C	c.(16-18)Tgt>Cgt	p.C6R		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	6	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		C -> R (in dbSNP:rs238829).		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGAGCCACAACAGGAGCTG	0.592													A|||	189	0.0377396	0.1377	0.0101	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.0				p.C6R		Atlas-SNP	.											.	KRTAP4-5	34	.	0			c.T16C						PASS	.	A	ARG/CYS	502,3898		31,440,1729	34	36	35		16	4.2	1	17	dbSNP_79	35	1,8595		0,1,4297	yes	missense	KRTAP4-5	NM_033188.3	180	31,441,6026	GG,GA,AA		0.0116,11.4091,3.8704	probably-damaging	6/182	39306004	503,12493	2200	4298	6498	SO:0001583	missense	85289	exon1			AGCCACAACAGGA	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.16T>C	17.37:g.39306004A>G	ENSP00000340546:p.Cys6Arg	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	346	153	0.442197	NM_033188		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	76	0.0347985347985348	70	0.14227642276422764	6	0.016574585635359115	0	0.0	0	0.0	.	8.628	0.892905	0.17613	0.114091	1.16E-4	ENSG00000198271	ENST00000343246	T	0.03065	4.06	4.25	4.25	0.50352	.	0.000000	0.40385	U	0.001109	T	0.00178	0.0005	H	0.94698	3.57	0.21325	P	0.999724217	D	0.59767	0.986	P	0.61800	0.894	T	0.04178	-1.0971	9	0.87932	D	0	.	11.6139	0.51078	1.0:0.0:0.0:0.0	rs238829;rs52814152;rs238829	6	Q9BYR2	KRA45_HUMAN	R	6	ENSP00000340546:C6R	ENSP00000340546:C6R	C	-	1	0	KRTAP4-5	36559530	0.995000	0.38212	1.000000	0.80357	0.017000	0.09413	1.548000	0.36201	1.900000	0.55004	0.533000	0.62120	TGT	A|0.962;G|0.038	0.038	strong		0.592	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			G	39306004	A	G	39306004	3	3	22	1	0	0	0	0	1	0	0	0	8554	130	5	2	533	2	KRTAP4-5	17	39306004	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93	39306004	41889206	8810	13918										
KRTAP4-4	84616	hgsc.bcm.edu	37	chr17	39316482	39316482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaatggggcctgtagcaCctggacacacagcagctggg	13	13	0	0	rs366700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39316482C>G	ENST00000390661.3	-	1	501	c.462G>C	c.(460-462)agG>agC	p.R154S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	154	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		R -> S (in dbSNP:rs366700).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCTGTAGCACCTGGACACAC	0.617													c|||	523	0.104433	0.379	0.0288	5008	,	,		20637	0.0		0.002	False		,,,				2504	0.0				p.R154S		Atlas-SNP	.											.	KRTAP4-4	21	.	0			c.G462C						PASS	.	G	SER/ARG	1375,3019		224,927,1046	39	46	44		462	1.5	1	17	dbSNP_80	44	7,8585		0,7,4289	yes	missense	KRTAP4-4	NM_032524.1	110	224,934,5335	GG,GC,CC		0.0815,31.2927,10.6422	benign	154/167	39316482	1382,11604	2197	4296	6493	SO:0001583	missense	84616	exon1			GTAGCACCTGGAC	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.462G>C	17.37:g.39316482C>G	ENSP00000375076:p.Arg154Ser	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	251	250	0.996016	NM_032524	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	190	0.08699633699633699	179	0.3638211382113821	11	0.03038674033149171	0	0.0	0	0.0	.	2.548	-0.304815	0.05495	0.312927	8.15E-4	ENSG00000171396	ENST00000390661	T	0.00571	6.5	4.79	1.5	0.22942	.	0.286046	0.18063	U	0.152889	T	0.00012	0.0000	N	0.00159	-1.955	0.54753	P	1.8999999999991246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.03068	-1.1076	9	0.19147	T	0.46	.	4.8968	0.13755	0.2534:0.289:0.4576:0.0	rs366700;rs52806510;rs366700	154	Q9BYR3	KRA44_HUMAN	S	154	ENSP00000375076:R154S	ENSP00000375076:R154S	R	-	3	2	KRTAP4-4	36570008	0.000000	0.05858	0.990000	0.47175	0.502000	0.33828	-0.971000	0.03806	0.113000	0.18004	-0.335000	0.08231	AGG	C|0.938;G|0.062	0.062	strong		0.617	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			G	39316482	C	G	39316482	3	3	22	1	0	0	0	0	1	0	0	0	8553	506	18	4	42	4	KRTAP4-4	17	39316482	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10478	39316482	41878728	8811	13919										
KRTAP4-4	84616	hgsc.bcm.edu	37	chr17	39316841	39316841	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcagctggggcggcagcAggtggtcctgcagcaggtgg	19	10	0	0	rs444509|rs535200131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39316841A>T	ENST00000390661.3	-	1	142	c.103T>A	c.(103-105)Tgc>Agc	p.C35S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	35	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		C -> S (in dbSNP:rs444509).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGGTGGTCCTG	0.647													A|||	522	0.104233	0.3782	0.0288	5008	,	,		19513	0.0		0.002	False		,,,				2504	0.0				p.C35S		Atlas-SNP	.											.	KRTAP4-4	21	.	0			c.T103A						PASS	.	A	SER/CYS	1206,3164		166,874,1145	38	53	48		103	4.5	1	17	dbSNP_80	48	3,8589		0,3,4293	no	missense	KRTAP4-4	NM_032524.1	112	166,877,5438	TT,TA,AA		0.0349,27.5973,9.3273	possibly-damaging	35/167	39316841	1209,11753	2185	4296	6481	SO:0001583	missense	84616	exon1			GGCAGCAGGTGGT	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.103T>A	17.37:g.39316841A>T	ENSP00000375076:p.Cys35Ser	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	147	147	1	NM_032524	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	187	0.08562271062271062	176	0.35772357723577236	11	0.03038674033149171	0	0.0	0	0.0	.	14.47	2.545823	0.45280	0.275973	3.49E-4	ENSG00000171396	ENST00000390661	T	0.04406	3.63	4.52	4.52	0.55395	.	0.000000	0.44688	U	0.000438	T	0.00012	0.0000	M	0.93150	3.385	0.34592	P	0.28444	P	0.38551	0.636	P	0.47827	0.558	T	0.34179	-0.9839	9	0.44086	T	0.13	.	11.8038	0.52143	1.0:0.0:0.0:0.0	rs444509;rs61402488	35	Q9BYR3	KRA44_HUMAN	S	35	ENSP00000375076:C35S	ENSP00000375076:C35S	C	-	1	0	KRTAP4-4	36570367	1.000000	0.71417	0.961000	0.40146	0.964000	0.63967	2.062000	0.41413	1.660000	0.50760	0.443000	0.29094	TGC	A|0.912;T|0.088	0.088	strong		0.647	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			T	39316841	A	T	39316841	3	4	22	1	0	0	0	0	1	0	0	0	8553	188	7	5	401	5	KRTAP4-4	17	39316841	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	359	39316841	41878369	8812	13920										
KRTAP4-4	84616	hgsc.bcm.edu	37	chr17	39316870	39316870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagcaggtggtctggcagTagctgggacggcagcagttc	17	9	1	0	rs385055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39316870T>C	ENST00000390661.3	-	1	113	c.74A>G	c.(73-75)tAc>tGc	p.Y25C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	25	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Y -> C (in dbSNP:rs385055).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGTCTGGCAGTAGCTGGGACG	0.637													C|||	641	0.127995	0.466	0.0331	5008	,	,		19142	0.0		0.002	False		,,,				2504	0.0				p.Y25C		Atlas-SNP	.											KRTAP4-4,NS,carcinoma,-1,1	KRTAP4-4	21	1	0			c.A74G						PASS	.	C	CYS/TYR	1640,2760		330,980,890	50	68	62		74	4.6	0.9	17	dbSNP_80	62	10,8590		0,10,4290	no	missense	KRTAP4-4	NM_032524.1	194	330,990,5180	CC,CT,TT		0.1163,37.2727,12.6923	benign	25/167	39316870	1650,11350	2200	4300	6500	SO:0001583	missense	84616	exon1			TGGCAGTAGCTGG	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.74A>G	17.37:g.39316870T>C	ENSP00000375076:p.Tyr25Cys	Somatic	188	1	0.00531915		WXS	Illumina HiSeq	Phase_I	134	134	1	NM_032524	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	231	0.10576923076923077	218	0.44308943089430897	13	0.03591160220994475	0	0.0	0	0.0	.	0.052	-1.247813	0.01469	0.372727	0.001163	ENSG00000171396	ENST00000390661	T	0.00571	6.5	4.62	4.62	0.57501	.	0.157197	0.29868	N	0.010999	T	0.00012	0.0000	N	0.00005	-3.295	0.42889	P	0.005808000000000035	B	0.02656	0.0	B	0.01281	0.0	T	0.19647	-1.0299	9	0.02654	T	1	.	10.7732	0.46336	0.0:0.9051:0.0:0.0949	rs385055;rs59740078	25	Q9BYR3	KRA44_HUMAN	C	25	ENSP00000375076:Y25C	ENSP00000375076:Y25C	Y	-	2	0	KRTAP4-4	36570396	0.010000	0.17322	0.851000	0.33527	0.345000	0.29048	0.694000	0.25512	0.943000	0.37553	-0.227000	0.12334	TAC	T|0.890;C|0.110	0.110	strong		0.637	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			C	39316870	T	C	39316870	3	2	22	1	0	0	0	0	1	0	0	0	8553	1638	57	2	430	2	KRTAP4-4	17	39316870	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29	39316870	41878340	8813	13921										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324190	39324190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcaggaaggcctgcagcAactggaaatgcagcagctgg	14	10	0	0	rs377224840		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39324190A>G	ENST00000391356.2	-	1	234	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	79	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ggcctgcagcaactggaaatg	0.612																																					p.C79R		Atlas-SNP	.											.	KRTAP4-3	40	.	0			c.T235C						PASS	.	A	ARG/CYS	147,2777		0,147,1315	3	5	4		235	4.6	1	17		4	1,6765		0,1,3382	no	missense	KRTAP4-3	NM_033187.1	180	0,148,4697	GG,GA,AA		0.0148,5.0274,1.5273	possibly-damaging	79/196	39324190	148,9542	1462	3383	4845	SO:0001583	missense	85290	exon1			TGCAGCAACTGGA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.235T>C	17.37:g.39324190A>G	ENSP00000375151:p.Cys79Arg	Somatic	392	1	0.00255102		WXS	Illumina HiSeq	Phase_I	166	73	0.439759	NM_033187		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.918720	0.33908	0.050274	1.48E-4	ENSG00000196156	ENST00000391356	T	0.03689	3.84	4.57	4.57	0.56435	.	0.000000	0.34362	U	0.004039	T	0.01523	0.0049	M	0.94142	3.5	0.48571	D	0.999674	P	0.38827	0.649	B	0.39185	0.293	T	0.00288	-1.1845	10	0.66056	D	0.02	.	7.092	0.25289	0.8963:0.0:0.1037:0.0	.	79	Q9BYR4	KRA43_HUMAN	R	79	ENSP00000375151:C79R	ENSP00000375151:C79R	C	-	1	0	KRTAP4-3	36577716	0.718000	0.27976	0.995000	0.50966	0.018000	0.09664	1.969000	0.40510	1.799000	0.52666	0.496000	0.49642	TGC	.	.	weak		0.612	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324190	A	G	39324190	3	3	22	1	0	0	0	0	1	0	0	0	8552	130	5	2	356	2	KRTAP4-3	17	39324190	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7320	39324190	41871020	8814	13922										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324237	39324237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaggtggtcctgcagcagCtgggtttgcagcagctggag	17	9	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39324237C>G	ENST00000391356.2	-	1	187	c.188G>C	c.(187-189)aGc>aCc	p.S63T		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	63	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cctgcagcagctgggtttgca	0.627																																					p.S63T		Atlas-SNP	.											KRTAP4-3,NS,carcinoma,-1,1	KRTAP4-3	40	1	0			c.G188C						scavenged	.						3	5	4					17																	39324237		1480	3536	5016	SO:0001583	missense	85290	exon1			CAGCAGCTGGGTT	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.188G>C	17.37:g.39324237C>G	ENSP00000375151:p.Ser63Thr	Somatic	420	0	0		WXS	Illumina HiSeq	Phase_I	110	18	0.163636	NM_033187		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	0.578	-0.838330	0.02692	.	.	ENSG00000196156	ENST00000391356	T	0.01335	5.0	4.13	-2.75	0.05914	.	.	.	.	.	T	0.01061	0.0035	N	0.20881	0.62	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.47573	-0.9107	9	0.14252	T	0.57	.	8.0489	0.30566	0.3482:0.2735:0.3783:0.0	.	63	Q9BYR4	KRA43_HUMAN	T	63	ENSP00000375151:S63T	ENSP00000375151:S63T	S	-	2	0	KRTAP4-3	36577763	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.870000	0.00346	-0.385000	0.07833	-2.956000	0.00083	AGC	.	.	none		0.627	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324237	C	G	39324237	3	3	22	1	0	0	0	0	1	0	0	0	8552	797	28	4	403	4	KRTAP4-3	17	39324237	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47	39324237	41870973	8815	13923										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324254	39324254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgggtttgcagcagctGgagatacagcaggaaggcct	15	9	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39324254G>A	ENST00000391356.2	-	1	170	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	57	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			tgcagcagctggagatacagc	0.642																																					p.S57S		Atlas-SNP	.											.	KRTAP4-3	40	.	0			c.C171T						PASS	.						3	4	4					17																	39324254		1542	3395	4937	SO:0001819	synonymous_variant	85290	exon1			GCAGCTGGAGATA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.171C>T	17.37:g.39324254G>A		Somatic	434	0	0		WXS	Illumina HiSeq	Phase_I	210	33	0.157143	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			.	.	none		0.642	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			A	39324254	G	A	39324254	2	1	22	1	0	0	0	0	0	0	0	1	8552	1335	47	2		2	KRTAP4-3	17	39324254	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17	39324254	41870956	8816	13924										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324410	39324410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagcagacagagccacaGcaggagctgaccatggcgtc	13	12	1	4	rs73985507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39324410G>A	ENST00000391356.2	-	1	14	c.15C>T	c.(13-15)tgC>tgT	p.C5C		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	5					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGAGCCACAGCAGGAGCTGA	0.592													A|||	519	0.103634	0.3759	0.0288	5008	,	,		16931	0.0		0.002	False		,,,				2504	0.0				p.C5C		Atlas-SNP	.											.	KRTAP4-3	40	.	0			c.C15T						PASS	.	A		1379,2993		223,933,1030	29	31	30		15	-1.4	0.9	17	dbSNP_130	30	5,8573		0,5,4284	no	coding-synonymous	KRTAP4-3	NM_033187.1		223,938,5314	AA,AG,GG		0.0583,31.5416,10.6873		5/196	39324410	1384,11566	2186	4289	6475	SO:0001819	synonymous_variant	85290	exon1			GCCACAGCAGGAG	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.15C>T	17.37:g.39324410G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	211	211	1	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			G|0.944;A|0.056	0.056	strong		0.592	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			A	39324410	G	A	39324410	2	1	22	1	0	0	0	0	0	0	0	1	8552	963	34	2		2	KRTAP4-3	17	39324410	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	156	39324410	41870800	8817	13925										
KRTAP4-2	85291	hgsc.bcm.edu	37	chr17	39334314	39334314	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcagctggggcggcagcAggtggtcctgcagcaggtgg	19	10	0	0	rs200720939		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39334314A>T	ENST00000377726.2	-	1	146	c.103T>A	c.(103-105)Tgc>Agc	p.C35S		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	35	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGGTGGTCCTG	0.657																																					p.C35S		Atlas-SNP	.											KRTAP4-2_ENST00000458321,NS,haematopoietic_neoplasm,0,4	KRTAP4-2	93	4	0			c.T103A						scavenged	.						48	52	50					17																	39334314		2199	4289	6488	SO:0001583	missense	85291	exon1			GGCAGCAGGTGGT	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.103T>A	17.37:g.39334314A>T	ENSP00000366955:p.Cys35Ser	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	246	26	0.105691	NM_033062	A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	9.002	0.980423	0.18812	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.02085	4.46	4.24	4.24	0.50183	.	0.212644	0.23275	U	0.049980	T	0.10035	0.0246	H	0.95402	3.665	0.32423	N	0.54916	B	0.33883	0.43	B	0.40602	0.334	T	0.00912	-1.1517	10	0.49607	T	0.09	.	11.5905	0.50943	1.0:0.0:0.0:0.0	.	35	Q9BYR5	KRA42_HUMAN	S	35;152	ENSP00000366955:C35S	ENSP00000366955:C35S	C	-	1	0	KRTAP4-2	36587840	0.997000	0.39634	0.987000	0.45799	0.045000	0.14185	4.092000	0.57707	1.667000	0.50832	0.421000	0.28195	TGC	.	.	weak		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			T	39334314	A	T	39334314	3	4	22	1	0	0	0	0	1	0	0	0	8551	188	7	5	311	5	KRTAP4-2	17	39334314	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9904	39334314	41860896	8818	13926										
KRTAP9-2	83899	hgsc.bcm.edu	37	chr17	39383351	39383351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctgctgccgcccagccTgctgtgagaccacctgctgc	11	18	0	1	rs146532415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39383351T>C	ENST00000377721.3	+	1	452	c.445T>C	c.(445-447)Tgc>Cgc	p.C149R	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.C133R	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	149	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCGCCCAGCCTGCTGTGAGAC	0.607													.|||	58	0.0115815	0.0424	0.0029	5008	,	,		19288	0.0		0.0	False		,,,				2504	0.0				p.C149R		Atlas-SNP	.											.	KRTAP9-2	24	.	0			c.T445C						PASS	.	T	ARG/CYS	126,4166		3,120,2023	19	21	20		445	1.8	0	17	dbSNP_134	20	0,8406		0,0,4203	no	missense	KRTAP9-2	NM_031961.2	180	3,120,6226	CC,CT,TT		0.0,2.9357,0.9923	probably-damaging	149/175	39383351	126,12572	2146	4203	6349	SO:0001583	missense	83899	exon1			CCAGCCTGCTGTG	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.445T>C	17.37:g.39383351T>C	ENSP00000366950:p.Cys149Arg	Somatic	336	1	0.00297619		WXS	Illumina HiSeq	Phase_I	400	149	0.3725	NM_031961	Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	19.02	3.746233	0.69418	0.029357	0.0	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.05139	4.92;3.49	2.89	1.78	0.24846	.	.	.	.	.	T	0.02649	0.0080	M	0.74389	2.26	0.52501	D	0.999959	B	0.25904	0.137	B	0.23852	0.049	T	0.08806	-1.0704	9	0.87932	D	0	.	6.5335	0.22339	0.0:0.1318:0.0:0.8682	.	149	Q9BYQ4	KRA92_HUMAN	R	149;133	ENSP00000366950:C149R;ENSP00000398325:C133R	ENSP00000366950:C149R	C	+	1	0	KRTAP9-2	36636877	0.403000	0.25319	0.010000	0.14722	0.911000	0.54048	0.513000	0.22770	0.325000	0.23359	0.248000	0.18094	TGC	T|0.993;C|0.007	0.007	strong		0.607	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			C	39383351	T	C	39383351	3	2	22	1	0	0	0	0	1	0	0	0	8573	1580	55	3	447	3	KRTAP9-2	17	39383351	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49037	39383351	41811859	8819	13927										
KRTAP9-9	81870	hgsc.bcm.edu	37	chr17	39411711	39411711	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaagcccaccactgtgaCcacctgcagcagcacaccct	8	18	0	1	rs150962386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39411711C>G	ENST00000394008.1	+	1	76	c.74C>G	c.(73-75)aCc>aGc	p.T25S		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	30	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCACTGTGACCACCTGCAGC	0.627													.|||	219	0.04373	0.1566	0.0159	5008	,	,		17225	0.0		0.001	False		,,,				2504	0.0				p.T25S		Atlas-SNP	.											.	KRTAP9-9	24	.	0			c.C74G						PASS	.																																			SO:0001583	missense	81870	exon1			CTGTGACCACCTG	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.74C>G	17.37:g.39411711C>G	ENSP00000377576:p.Thr25Ser	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_030975	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	CCDS54127.1	82	0.037545787545787544	72	0.14634146341463414	10	0.027624309392265192	0	0.0	0	0.0	.	6.971	0.549071	0.13312	.	.	ENSG00000198083	ENST00000394008	T	0.00724	5.78	2.19	1.14	0.20703	.	.	.	.	.	T	0.00012	0.0000	N	0.13168	0.305	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.40997	-0.9533	9	0.08381	T	0.77	.	7.4223	0.27079	0.0:0.8514:0.0:0.1486	.	30	Q9BYP9	KRA99_HUMAN	S	25	ENSP00000377576:T25S	ENSP00000377576:T25S	T	+	2	0	KRTAP9-9	36665237	0.931000	0.31567	0.005000	0.12908	0.354000	0.29330	2.718000	0.47236	0.474000	0.27392	0.456000	0.33151	ACC	C|0.962;G|0.038	0.038	strong		0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		G	39411711	C	G	39411711	3	3	22	1	0	0	0	0	1	0	0	0	8577	507	18	4	76	4	KRTAP9-9	17	39411711	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28360	39411711	41783499	8820	13928										
KRTAP9-9	81870	hgsc.bcm.edu	37	chr17	39412125	39412125	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccacctgtgtgtccagctGctgccagccttcttgctgct	10	16	1	0	rs144403228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39412125G>C	ENST00000394008.1	+	1	490	c.488G>C	c.(487-489)tGc>tCc	p.C163S		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	148						keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTGTCCAGCTGCTGCCAGCCT	0.557													.|||	77	0.0153754	0.056	0.0043	5008	,	,		22420	0.0		0.0	False		,,,				2504	0.0				p.C163S		Atlas-SNP	.											.	KRTAP9-9	24	.	0			c.G488C						PASS	.	G	SER/CYS	216,4190		6,204,1993	163	170	167		488	3.7	1	17	dbSNP_134	167	2,8598		0,2,4298	yes	missense	KRTAP9-9	NM_030975.2	112	6,206,6291	CC,CG,GG		0.0233,4.9024,1.6761	possibly-damaging	163/170	39412125	218,12788	2203	4300	6503	SO:0001583	missense	81870	exon1			CCAGCTGCTGCCA	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.488G>C	17.37:g.39412125G>C	ENSP00000377576:p.Cys163Ser	Somatic	262	1	0.00381679		WXS	Illumina HiSeq	Phase_I	263	129	0.490494	NM_030975	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	CCDS54127.1	28	0.01282051282051282	24	0.04878048780487805	4	0.011049723756906077	0	0.0	0	0.0	.	23.2	4.383020	0.82792	0.049024	2.33E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.02323	4.34	3.68	3.68	0.42216	.	.	.	.	.	T	0.01976	0.0062	M	0.81497	2.545	0.30835	N	0.736277	D	0.89917	1.0	D	0.72982	0.979	T	0.00388	-1.1771	9	0.46703	T	0.11	.	11.5975	0.50981	0.0:0.0:1.0:0.0	.	148	Q9BYP9	KRA99_HUMAN	S	169;163	ENSP00000377576:C163S	ENSP00000377576:C163S	C	+	2	0	KRTAP9-9	36665651	0.998000	0.40836	0.998000	0.56505	0.904000	0.53231	1.282000	0.33226	1.971000	0.57363	0.462000	0.41574	TGC	G|0.987;C|0.013	0.013	strong		0.557	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		C	39412125	G	C	39412125	3	2	22	1	0	0	0	0	1	0	0	0	8577	1319	46	4	490	4	KRTAP9-9	17	39412125	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	414	39412125	41783085	8821	13929										
KRTAP17-1	83902	hgsc.bcm.edu	37	chr17	39471888	39471888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggtgaagcagtccccCgggcagcaccccatggtccg	13	16	0	1	rs34354631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39471888C>T	ENST00000334202.3	-	1	59	c.15G>A	c.(13-15)ccG>ccA	p.P5P		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	5						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGTCCCCCGGGCAGCACC	0.657													C|||	622	0.124201	0.3275	0.0548	5008	,	,		13406	0.0506		0.0795	False		,,,				2504	0.0204				p.P5P		Atlas-SNP	.											.	KRTAP17-1	14	.	0			c.G15A						PASS	.	C		1217,3171		178,861,1155	19	22	21		15	-6.7	1	17	dbSNP_126	21	693,7867		27,639,3614	no	coding-synonymous	KRTAP17-1	NM_031964.1		205,1500,4769	TT,TC,CC		8.0958,27.7347,14.7513		5/106	39471888	1910,11038	2194	4280	6474	SO:0001819	synonymous_variant	83902	exon1			GTCCCCCGGGCAG	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"Keratin associated proteins"	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.15G>A	17.37:g.39471888C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	46	44	0.956522	NM_031964		Silent	SNP	ENST00000334202.3	37	CCDS11387.1																																																																																			C|0.866;T|0.134	0.134	strong		0.657	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			T	39471888	C	T	39471888	2	4	22	1	0	0	0	0	0	0	0	1	8527	639	23	1		1	KRTAP17-1	17	39471888	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59763	39471888	41723322	8822	13930										
KRT33A	3883	hgsc.bcm.edu	37	chr17	39502398	39502398	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaatgtgttgcaaggcccAcaccgagcacgtaggccaca	10	14	0	0	rs16966703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39502398A>G	ENST00000007735.3	-	7	1232	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	396	Tail.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCAAGGCCCACACCGAGCAC	0.557													G|||	626	0.125	0.3321	0.0519	5008	,	,		17134	0.0506		0.0795	False		,,,				2504	0.0204				p.C396C		Atlas-SNP	.											.	KRT33A	53	.	0			c.T1188C						PASS	.	G		1306,3100	698.4+/-406.3	207,892,1104	136	120	126		1188	0.2	0.6	17	dbSNP_123	126	753,7847	785.3+/-407.6	28,697,3575	no	coding-synonymous	KRT33A	NM_004138.2		235,1589,4679	GG,GA,AA		8.7558,29.6414,15.8312		396/405	39502398	2059,10947	2203	4300	6503	SO:0001819	synonymous_variant	3883	exon7			AGGCCCACACCGA	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1188T>C	17.37:g.39502398A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	190	190	1	NM_004138	B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	CCDS11388.1																																																																																			A|0.854;G|0.146	0.146	strong		0.557	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		G	39502398	A	G	39502398	2	3	22	1	0	0	0	0	0	0	0	1	8469	157	6	2		2	KRT33A	17	39502398	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30510	39502398	41692812	8823	13931										
KRT33A	3883	hgsc.bcm.edu	37	chr17	39503163	39503163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctcagctcgatgatctccGcctggtaggactgcagctgc	12	13	2	1	rs12937519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39503163G>A	ENST00000007735.3	-	5	853	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	270	Coil 2.|Rod.		A -> V (in dbSNP:rs12937519). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.			extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GATGATCTCCGCCTGGTAGGA	0.592													g|||	1477	0.294928	0.3918	0.1902	5008	,	,		19991	0.37		0.2644	False		,,,				2504	0.1922				p.A270V		Atlas-SNP	.											KRT33A,colon,carcinoma,0,1	KRT33A	53	1	0			c.C809T						PASS	.	A	VAL/ALA	1640,2766	501.5+/-365.0	322,996,885	106	95	99		809	3.3	0.9	17	dbSNP_121	99	2338,6262	390.3+/-343.2	294,1750,2256	no	missense	KRT33A	NM_004138.2	64	616,2746,3141	AA,AG,GG		27.186,37.222,30.5859	benign	270/405	39503163	3978,9028	2203	4300	6503	SO:0001583	missense	3883	exon5			ATCTCCGCCTGGT	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.809C>T	17.37:g.39503163G>A	ENSP00000007735:p.Ala270Val	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	228	217	0.951754	NM_004138	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	CCDS11388.1	668	0.3058608058608059	183	0.3719512195121951	74	0.20441988950276244	207	0.3618881118881119	204	0.2691292875989446	g	16.59	3.166855	0.57476	0.37222	0.27186	ENSG00000006059	ENST00000007735	D	0.88896	-2.44	4.27	3.3	0.37823	Filament (1);	0.198950	0.35970	N	0.002873	T	0.00012	0.0000	L	0.38175	1.15	0.38439	P	0.053339000000000025	B	0.24768	0.111	B	0.25405	0.06	T	0.06232	-1.0838	9	0.72032	D	0.01	.	11.7875	0.52051	0.0863:0.0:0.9137:0.0	rs12937519	270	O76009	KT33A_HUMAN	V	270	ENSP00000007735:A270V	ENSP00000007735:A270V	A	-	2	0	KRT33A	36756689	0.000000	0.05858	0.928000	0.36995	0.991000	0.79684	0.595000	0.24029	1.147000	0.42369	-0.213000	0.12676	GCG	G|0.333;A|0.667	0.667	weak		0.592	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		A	39503163	G	A	39503163	3	1	22	1	0	0	0	0	1	0	0	0	8469	1087	38	1	417	1	KRT33A	17	39503163	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	765	39503163	41692047	8824	13932										
KRT33B	3884	hgsc.bcm.edu	37	chr17	39521248	39521248	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgtgttttccagagagtAtcgctgtggtgggaaagatc	14	7	0	2	rs71373411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39521248A>C	ENST00000251646.3	-	6	929	c.880T>G	c.(880-882)Tac>Gac	p.Y294D		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	294	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCAGAGAGTATCGCTGTGGT	0.552													C|||	679	0.135583	0.3707	0.0548	5008	,	,		17851	0.0506		0.0795	False		,,,				2504	0.0204				p.Y294D		Atlas-SNP	.											.	KRT33B	46	.	0			c.T880G						PASS	.	C	ASP/TYR	1361,3021	679.7+/-403.7	281,799,1111	41	48	46		880	-2.5	0.2	17	dbSNP_130	46	742,7858	784.1+/-407.6	28,686,3586	yes	missense	KRT33B	NM_002279.3	160	309,1485,4697	CC,CA,AA		8.6279,31.0589,16.1994	benign	294/405	39521248	2103,10879	2191	4300	6491	SO:0001583	missense	3884	exon6			GAGAGTATCGCTG	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.880T>G	17.37:g.39521248A>C	ENSP00000251646:p.Tyr294Asp	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	164	164	1	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	279	0.12774725274725274	161	0.32723577235772355	22	0.06077348066298342	31	0.05419580419580419	65	0.08575197889182058	c	0.003	-2.479716	0.00165	0.310589	0.086279	ENSG00000131738	ENST00000251646	D	0.87491	-2.26	4.85	-2.45	0.06481	Filament (1);	0.276012	0.32175	N	0.006477	T	0.00012	0.0000	N	0.00024	-2.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	9	0.02654	T	1	.	4.0897	0.09963	0.1027:0.4167:0.1035:0.3771	.	294	Q14525	KT33B_HUMAN	D	294	ENSP00000251646:Y294D	ENSP00000251646:Y294D	Y	-	1	0	KRT33B	36774774	0.000000	0.05858	0.152000	0.22495	0.076000	0.17211	-3.151000	0.00582	-0.437000	0.07243	-2.126000	0.00345	TAC	A|0.853;C|0.147	0.147	strong		0.552	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		C	39521248	A	C	39521248	3	2	22	1	0	0	0	0	1	0	0	0	8470	449	16	5	342	5	KRT33B	17	39521248	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18085	39521248	41673962	8825	13933										
KRT33B	3884	hgsc.bcm.edu	37	chr17	39521517	39521517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaggactgcagctgctcCgagctggataccacctgctt	12	12	0	0	rs553149537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39521517C>T	ENST00000251646.3	-	5	835	c.786G>A	c.(784-786)tcG>tcA	p.S262S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	262	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S262S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCAGCTGCTCCGAGCTGGATA	0.617													C|||	4	0.000798722	0.0008	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.0031				p.S262S		Atlas-SNP	.											KRT33B,caecum,carcinoma,0,1	KRT33B	46	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A						scavenged	.						51	51	51					17																	39521517		2189	4298	6487	SO:0001819	synonymous_variant	3884	exon5			CTGCTCCGAGCTG	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.786G>A	17.37:g.39521517C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	254	23	0.0905512	NM_002279	O76010	Silent	SNP	ENST00000251646.3	37	CCDS11389.1																																																																																			.	.	none		0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		T	39521517	C	T	39521517	2	4	22	1	0	0	0	0	0	0	0	1	8470	639	23	1		1	KRT33B	17	39521517	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	269	39521517	41673693	8826	13934										
KRT33B	3884	hgsc.bcm.edu	37	chr17	39521726	39521726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggtctcgttcaggaccTggttcaggtccacagcggga	13	12	3	0	rs61741663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39521726T>C	ENST00000251646.3	-	4	717	c.668A>G	c.(667-669)cAg>cGg	p.Q223R		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	223	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GTTCAGGACCTGGTTCAGGTC	0.577													T|||	85	0.0169728	0.0635	0.0014	5008	,	,		18746	0.0		0.0	False		,,,				2504	0.0				p.Q223R		Atlas-SNP	.											KRT33B,NS,carcinoma,0,1	KRT33B	46	1	0			c.A668G						PASS	.	T	ARG/GLN	260,4120		25,210,1955	77	73	75		668	1.7	0	17	dbSNP_129	75	0,8600		0,0,4300	no	missense	KRT33B	NM_002279.3	43	25,210,6255	CC,CT,TT		0.0,5.9361,2.0031	benign	223/405	39521726	260,12720	2190	4300	6490	SO:0001583	missense	3884	exon4			AGGACCTGGTTCA	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.668A>G	17.37:g.39521726T>C	ENSP00000251646:p.Gln223Arg	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	230	111	0.482609	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	39	0.017857142857142856	38	0.07723577235772358	1	0.0027624309392265192	0	0.0	0	0.0	t	0.004	-2.255496	0.00265	0.059361	0.0	ENSG00000131738	ENST00000251646	D	0.88818	-2.43	4.78	1.66	0.24008	Filament (1);	0.334269	0.24422	N	0.038665	T	0.08403	0.0209	N	0.01289	-0.905	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42531	-0.9446	10	0.02654	T	1	.	7.0528	0.25083	0.0:0.524:0.0:0.476	rs61741663	223	Q14525	KT33B_HUMAN	R	223	ENSP00000251646:Q223R	ENSP00000251646:Q223R	Q	-	2	0	KRT33B	36775252	0.042000	0.20092	0.037000	0.18230	0.025000	0.11179	0.380000	0.20602	0.300000	0.22699	-0.911000	0.02809	CAG	T|0.976;C|0.024	0.024	strong		0.577	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		C	39521726	T	C	39521726	3	2	22	1	0	0	0	0	1	0	0	0	8470	1580	55	3	562	3	KRT33B	17	39521726	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	209	39521726	41673484	8827	13935										
KRT33B	3884	hgsc.bcm.edu	37	chr17	39521752	39521752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtccacagcgggagcagcGtccacctccacgttgaggcg	14	14	0	1	rs61741664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39521752G>A	ENST00000251646.3	-	4	691	c.642C>T	c.(640-642)gaC>gaT	p.D214D		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	214	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CGGGAGCAGCGTCCACCTCCA	0.542													G|||	72	0.014377	0.0537	0.0014	5008	,	,		19114	0.0		0.0	False		,,,				2504	0.0				p.D214D		Atlas-SNP	.											.	KRT33B	46	.	0			c.C642T						PASS	.	G		204,4178		19,166,2006	66	64	64		642	-4.8	0.7	17	dbSNP_129	64	1,8599		0,1,4299	no	coding-synonymous	KRT33B	NM_002279.3		19,167,6305	AA,AG,GG		0.0116,4.6554,1.5791		214/405	39521752	205,12777	2191	4300	6491	SO:0001819	synonymous_variant	3884	exon4			AGCAGCGTCCACC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.642C>T	17.37:g.39521752G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	200	100	0.5	NM_002279	O76010	Silent	SNP	ENST00000251646.3	37	CCDS11389.1																																																																																			G|0.981;A|0.019	0.019	strong		0.542	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		A	39521752	G	A	39521752	2	1	22	1	0	0	0	0	0	0	0	1	8470	1136	40	1		1	KRT33B	17	39521752	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26	39521752	41673458	8828	13936										
KRT34	3885	hgsc.bcm.edu	37	chr17	39535388	39535388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggacagctgggagctgtagTgggcctcgctctccgtcagc	16	12	2	0	rs2071599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39535388T>C	ENST00000394001.1	-	6	1073	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	348	Coil 2.|Rod.		H -> R (in dbSNP:rs2071599).		epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGAGCTGTAGTGGGCCTCGCT	0.582													c|||	856	0.170927	0.4297	0.085	5008	,	,		22237	0.0774		0.1024	False		,,,				2504	0.0491				p.H348R		Atlas-SNP	.											.	KRT34	71	.	0			c.A1043G						PASS	.	C	ARG/HIS	1622,2784		237,1148,818	94	85	88		1043	4.9	1	17	dbSNP_96	88	932,7668		31,870,3399	no	missense	KRT34	NM_021013.3	29	268,2018,4217	CC,CT,TT		10.8372,36.8134,19.6371	benign	348/437	39535388	2554,10452	2203	4300	6503	SO:0001583	missense	3885	exon6			CTGTAGTGGGCCT	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1043A>G	17.37:g.39535388T>C	ENSP00000377570:p.His348Arg	Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	207	203	0.980676	NM_021013	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	306	0.1401098901098901	168	0.34146341463414637	32	0.08839779005524862	37	0.06468531468531469	69	0.09102902374670185	c	4.348	0.064063	0.08388	0.368134	0.108372	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.91	4.91	0.64330	Filament (1);	0.000000	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00015	-2.875	0.43698	P	0.003846000000000016	B	0.02656	0.0	B	0.01281	0.0	T	0.43343	-0.9397	8	0.02654	T	1	.	12.8943	0.58091	0.0:0.9204:0.0:0.0796	rs2071599	348	O76011	KRT34_HUMAN	R	306;348	.	ENSP00000251648:H348R	H	-	2	0	KRT34	36788914	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.975000	0.56859	1.218000	0.43458	-0.227000	0.12334	CAC	T|0.874;C|0.126	0.126	strong		0.582	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		C	39535388	T	C	39535388	3	2	22	1	0	0	0	0	1	0	0	0	8471	1696	59	2	275	2	KRT34	17	39535388	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13636	39535388	41659822	8829	13937										
KRT31	3881	hgsc.bcm.edu	37	chr17	39551533	39551533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctcgatctccagggcGttgactgtgcgtctcagctc	12	13	2	1	rs6503626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39551533G>A	ENST00000251645.2	-	5	892	c.840C>T	c.(838-840)aaC>aaT	p.N280N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	280	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTCCAGGGCGTTGACTGTGC	0.597													G|||	67	0.0133786	0.0469	0.0	5008	,	,		20660	0.0		0.0	False		,,,				2504	0.0051				p.N280N		Atlas-SNP	.											.	KRT31	158	.	0			c.C840T						PASS	.	G		123,4283	80.9+/-119.3	6,111,2086	98	90	93		840	-4.3	0.9	17	dbSNP_116	93	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	KRT31	NM_002277.2		6,113,6384	AA,AG,GG		0.0233,2.7916,0.9611		280/417	39551533	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	3881	exon5			CAGGGCGTTGACT	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.840C>T	17.37:g.39551533G>A		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	210	101	0.480952	NM_002277	Q9UE12	Silent	SNP	ENST00000251645.2	37	CCDS11391.1																																																																																			G|0.988;A|0.012	0.012	strong		0.597	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		A	39551533	G	A	39551533	2	1	22	1	0	0	0	0	0	0	0	1	8467	1136	40	1		1	KRT31	17	39551533	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16145	39551533	41643677	8830	13938										
KRT31	3881	hgsc.bcm.edu	37	chr17	39553547	39553547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgaggttctccagctccGcgttgtcccgctccagctga	12	14	1	2	rs6503627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39553547G>A	ENST00000251645.2	-	1	297	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	82	Coil 1A.|Rod.		A -> V (in dbSNP:rs6503627).		epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCAGCTCCGCGTTGTCCCG	0.587													G|||	224	0.0447284	0.0371	0.0331	5008	,	,		17472	0.0516		0.0785	False		,,,				2504	0.0215				p.A82V		Atlas-SNP	.											.	KRT31	158	.	0			c.C245T						PASS	.	G	VAL/ALA	173,4233	114.6+/-152.6	4,165,2034	75	72	73		245	4.9	0.8	17	dbSNP_116	73	742,7856	178.9+/-228.2	27,688,3584	no	missense	KRT31	NM_002277.2	64	31,853,5618	AA,AG,GG		8.6299,3.9265,7.0363	benign	82/417	39553547	915,12089	2203	4299	6502	SO:0001583	missense	3881	exon1			AGCTCCGCGTTGT	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.245C>T	17.37:g.39553547G>A	ENSP00000251645:p.Ala82Val	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	172	98	0.569767	NM_002277	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	129	0.059065934065934064	18	0.036585365853658534	14	0.03867403314917127	32	0.055944055944055944	65	0.08575197889182058	g	15.71	2.913866	0.52439	0.039265	0.086299	ENSG00000094796	ENST00000251645	D	0.89415	-2.51	5.91	4.94	0.65067	Filament (1);	0.000000	0.64402	D	0.000004	T	0.30293	0.0760	M	0.82433	2.59	0.09310	N	1	P	0.44946	0.846	B	0.39840	0.311	T	0.64271	-0.6447	10	0.66056	D	0.02	.	9.7155	0.40272	0.0736:0.1408:0.7856:0.0	rs6503627;rs6503627	82	Q15323	K1H1_HUMAN	V	82	ENSP00000251645:A82V	ENSP00000251645:A82V	A	-	2	0	KRT31	36807073	0.001000	0.12720	0.765000	0.31456	0.981000	0.71138	1.088000	0.30877	1.501000	0.48654	0.655000	0.94253	GCG	G|0.938;A|0.062	0.062	strong		0.587	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		A	39553547	G	A	39553547	3	1	22	1	0	0	0	0	1	0	0	0	8467	1087	38	1	1033	1	KRT31	17	39553547	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2014	39553547	41641663	8831	13939										
KRT31	3881	hgsc.bcm.edu	37	chr17	39553676	39553676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgcagttgctcacattgGcggggatgttgcaggccccg	15	10	1	0	rs6503628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39553676G>C	ENST00000251645.2	-	1	168	c.116C>G	c.(115-117)gCc>gGc	p.A39G		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	39	Head.		A -> G (in dbSNP:rs6503628).		epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTCACATTGGCGGGGATGTT	0.657													G|||	15	0.00299521	0.0113	0.0	5008	,	,		15172	0.0		0.0	False		,,,				2504	0.0				p.A39G		Atlas-SNP	.											.	KRT31	158	.	0			c.C116G						PASS	.	G	GLY/ALA	45,4361	43.1+/-76.7	0,45,2158	59	61	60		116	4.9	1	17	dbSNP_116	60	0,8600		0,0,4300	no	missense	KRT31	NM_002277.2	60	0,45,6458	CC,CG,GG		0.0,1.0213,0.346	benign	39/417	39553676	45,12961	2203	4300	6503	SO:0001583	missense	3881	exon1			ACATTGGCGGGGA	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.116C>G	17.37:g.39553676G>C	ENSP00000251645:p.Ala39Gly	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	205	90	0.439024	NM_002277	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	g	6.953	0.545683	0.13312	0.010213	0.0	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.87	4.9	0.64082	.	0.000000	0.64402	D	0.000004	T	0.61476	0.2350	L	0.28400	0.85	0.32486	N	0.54088	B	0.12013	0.005	B	0.10450	0.005	T	0.60209	-0.7308	10	0.06365	T	0.9	.	8.4419	0.32820	0.2275:0.0:0.7725:0.0	rs6503628;rs6503628	39	Q15323	K1H1_HUMAN	G	39	ENSP00000251645:A39G	ENSP00000251645:A39G	A	-	2	0	KRT31	36807202	0.992000	0.36948	1.000000	0.80357	0.902000	0.53008	2.205000	0.42770	1.500000	0.48636	0.650000	0.86243	GCC	G|0.997;C|0.003	0.003	strong		0.657	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		C	39553676	G	C	39553676	3	2	22	1	0	0	0	0	1	0	0	0	8467	1203	42	4	1162	4	KRT31	17	39553676	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129	39553676	41641534	8832	13940										
KRT37	8688	hgsc.bcm.edu	37	chr17	39577215	39577215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagtacaggaggcaggcGtggaacagggattgcagggg	19	5	0	1	rs8071814	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39577215G>A	ENST00000225550.3	-	7	1264	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	422	Tail.		T -> M (in dbSNP:rs8071814).			extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAGGCAGGCGTGGAACAGGG	0.542													G|||	224	0.0447284	0.0424	0.0331	5008	,	,		20870	0.0496		0.0775	False		,,,				2504	0.0174				p.T422M		Atlas-SNP	.											.	KRT37	61	.	0			c.C1265T						PASS	.	G	MET/THR	186,4220	120.0+/-157.7	5,176,2022	70	72	71		1265	4.1	0	17	dbSNP_116	71	748,7852	179.8+/-228.8	28,692,3580	yes	missense	KRT37	NM_003770.4	81	33,868,5602	AA,AG,GG		8.6977,4.2215,7.1813	probably-damaging	422/450	39577215	934,12072	2203	4300	6503	SO:0001583	missense	8688	exon7			GCAGGCGTGGAAC	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1265C>T	17.37:g.39577215G>A	ENSP00000225550:p.Thr422Met	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	70	31	0.442857	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	132	0.06043956043956044	21	0.042682926829268296	15	0.04143646408839779	31	0.05419580419580419	65	0.08575197889182058	G	16.13	3.036359	0.54896	0.042215	0.086977	ENSG00000108417	ENST00000225550	D	0.82984	-1.67	5.06	4.07	0.47477	.	0.000000	0.50627	D	0.000102	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.63192	0.912	T	0.49184	-0.8966	10	0.72032	D	0.01	.	9.8836	0.41249	0.0979:0.0:0.9021:0.0	rs8071814;rs17737054;rs8071814	422	O76014	KRT37_HUMAN	M	422	ENSP00000225550:T422M	ENSP00000225550:T422M	T	-	2	0	KRT37	36830741	0.003000	0.15002	0.008000	0.14137	0.092000	0.18411	0.548000	0.23314	1.084000	0.41184	0.655000	0.94253	ACG	G|0.935;A|0.065	0.065	strong		0.542	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		A	39577215	G	A	39577215	3	1	22	1	0	0	0	0	1	0	0	0	8474	1145	40	1	88	1	KRT37	17	39577215	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23539	39577215	41617995	8833	13941										
KRT38	8687	hgsc.bcm.edu	37	chr17	39594356	39594356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacgtacttgcagtcctcGctttccagaaggttccggta	9	13	0	1	rs28550887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39594356G>A	ENST00000246646.3	-	6	1229	c.1230C>T	c.(1228-1230)agC>agT	p.S410S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	410	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCAGTCCTCGCTTTCCAGAA	0.542													G|||	362	0.0722843	0.2035	0.0317	5008	,	,		19974	0.0198		0.0249	False		,,,				2504	0.0266				p.S410S		Atlas-SNP	.											.	KRT38	63	.	0			c.C1230T						PASS	.	G		696,3710		73,550,1580	94	87	90		1230	-7.5	0.9	17	dbSNP_125	90	211,8389		4,203,4093	no	coding-synonymous	KRT38	NM_006771.3		77,753,5673	AA,AG,GG		2.4535,15.7966,6.9737		410/457	39594356	907,12099	2203	4300	6503	SO:0001819	synonymous_variant	8687	exon6			GTCCTCGCTTTCC	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1230C>T	17.37:g.39594356G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	175	81	0.462857	NM_006771	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																			G|0.934;A|0.066	0.066	strong		0.542	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		A	39594356	G	A	39594356	2	1	22	1	0	0	0	0	0	0	0	1	8475	1078	38	1		1	KRT38	17	39594356	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17141	39594356	41600854	8834	13942										
KRT38	8687	hgsc.bcm.edu	37	chr17	39595536	39595536	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcggccttggccagggtCgcatcatccaggagcttctg	14	12	2	0	rs17494404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39595536C>T	ENST00000246646.3	-	3	650	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	217	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGGCCAGGGTCGCATCATCCA	0.637													C|||	245	0.0489217	0.059	0.0346	5008	,	,		17618	0.0496		0.0755	False		,,,				2504	0.0174				p.A217A		Atlas-SNP	.											.	KRT38	63	.	0			c.G651A						PASS	.	C		288,4118	158.9+/-191.5	9,270,1924	82	75	77		651	2.2	0.8	17	dbSNP_123	77	753,7847	180.2+/-229.2	29,695,3576	no	coding-synonymous	KRT38	NM_006771.3		38,965,5500	TT,TC,CC		8.7558,6.5365,8.004		217/457	39595536	1041,11965	2203	4300	6503	SO:0001819	synonymous_variant	8687	exon3			CAGGGTCGCATCA	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.651G>A	17.37:g.39595536C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	118	68	0.576271	NM_006771	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																			C|0.928;T|0.072	0.072	strong		0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		T	39595536	C	T	39595536	2	4	22	1	0	0	0	0	0	0	0	1	8475	871	31	1		1	KRT38	17	39595536	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1180	39595536	41599674	8835	13943										
KRT32	3882	hgsc.bcm.edu	37	chr17	39619186	39619186	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggttctgccgctccagGtcagcccggatctcagccag	11	16	3	0	rs2604956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39619186G>C	ENST00000225899.3	-	6	1216	c.1113C>G	c.(1111-1113)gaC>gaG	p.D371E		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	371	Coil 2.|Rod.			D -> E (in Ref. 1; CAA62284 and 4; CAA57179). {ECO:0000305}.	epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCCGCTCCAGGTCAGCCCGGA	0.647													G|||	232	0.0463259	0.0408	0.0375	5008	,	,		17222	0.0476		0.0765	False		,,,				2504	0.0276				p.D371E		Atlas-SNP	.											KRT32,brain,glioma,0,2	KRT32	57	2	0			c.C1113G						PASS	.	G	GLU/ASP	180,4226	116.7+/-154.6	5,170,2028	79	77	78		1113	4	1	17	dbSNP_100	78	811,7789	188.4+/-235.4	37,737,3526	no	missense	KRT32	NM_002278.3	45	42,907,5554	CC,CG,GG		9.4302,4.0853,7.6196	possibly-damaging	371/449	39619186	991,12015	2203	4300	6503	SO:0001583	missense	3882	exon6			CTCCAGGTCAGCC	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1113C>G	17.37:g.39619186G>C	ENSP00000225899:p.Asp371Glu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	154	73	0.474026	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	131	0.059981684981684984	21	0.042682926829268296	15	0.04143646408839779	30	0.05244755244755245	65	0.08575197889182058	G	16.62	3.173510	0.57584	0.040853	0.094302	ENSG00000108759	ENST00000225899	D	0.87412	-2.25	4.98	4.01	0.46588	Filament (1);	0.000000	0.40144	N	0.001178	T	0.29716	0.0742	L	0.43152	1.355	0.34582	P	0.28545200000000004	D	0.89917	1.0	D	0.97110	1.0	T	0.71852	-0.4467	9	0.26408	T	0.33	.	6.6185	0.22790	0.1617:0.1481:0.6903:0.0	rs2604956	371	Q14532	K1H2_HUMAN	E	371	ENSP00000225899:D371E	ENSP00000225899:D371E	D	-	3	2	KRT32	36872712	0.995000	0.38212	0.998000	0.56505	0.690000	0.40134	0.290000	0.18975	1.216000	0.43427	0.491000	0.48974	GAC	G|0.927;C|0.073	0.073	strong		0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		C	39619186	G	C	39619186	3	2	22	1	0	0	0	0	1	0	0	0	8468	1252	44	4	241	4	KRT32	17	39619186	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23650	39619186	41576024	8836	13944										
KRT32	3882	hgsc.bcm.edu	37	chr17	39623496	39623496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggccggcagttcacgcCgctggaacagaccgaggcag	14	14	2	1	rs115680799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39623496C>T	ENST00000225899.3	-	1	185	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	28	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CAGTTCACGCCGCTGGAACAG	0.637													C|||	89	0.0177716	0.0658	0.0029	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.0				p.G28S		Atlas-SNP	.											.	KRT32	57	.	0			c.G82A						PASS	.	C	SER/GLY	211,4193		4,203,1995	31	34	33		82	-0.2	0	17	dbSNP_132	33	6,8594		0,6,4294	yes	missense	KRT32	NM_002278.3	56	4,209,6289	TT,TC,CC		0.0698,4.7911,1.6687	benign	28/449	39623496	217,12787	2202	4300	6502	SO:0001583	missense	3882	exon1			TCACGCCGCTGGA	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.82G>A	17.37:g.39623496C>T	ENSP00000225899:p.Gly28Ser	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	C	0.012	-1.657918	0.00779	0.047911	6.98E-4	ENSG00000108759	ENST00000225899	D	0.86164	-2.08	5.16	-0.18	0.13295	.	0.662243	0.13290	N	0.399058	T	0.14917	0.0360	N	0.01874	-0.695	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.35599	-0.9782	10	0.10377	T	0.69	.	2.9903	0.05981	0.3289:0.3218:0.0:0.3493	.	28	Q14532	K1H2_HUMAN	S	28	ENSP00000225899:G28S	ENSP00000225899:G28S	G	-	1	0	KRT32	36877022	0.000000	0.05858	0.020000	0.16555	0.005000	0.04900	-0.360000	0.07622	0.060000	0.16281	-0.339000	0.08088	GGC	C|0.981;T|0.019	0.019	strong		0.637	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		T	39623496	C	T	39623496	3	4	22	1	0	0	0	0	1	0	0	0	8468	652	23	1	1292	1	KRT32	17	39623496	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4310	39623496	41571714	8837	13945										
KRT14	3861	hgsc.bcm.edu	37	chr17	39741280	39741280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtcaatctgcagaaggacAttggcattgtccactgtggc	11	9	2	1	rs35849957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39741280A>G	ENST00000167586.6	-	2	641	c.555T>C	c.(553-555)aaT>aaC	p.N185N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	185	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCAGAAGGACATTGGCATTGT	0.507													.|||	299	0.0597045	0.2118	0.0216	5008	,	,		20159	0.0		0.004	False		,,,				2504	0.0				p.N185N		Atlas-SNP	.											.	KRT14	65	.	0			c.T555C						PASS	.	G		794,3612	751.1+/-412.2	71,652,1480	101	82	89		555	-7	0	17	dbSNP_126	89	6,8594	818.5+/-406.9	0,6,4294	no	coding-synonymous	KRT14	NM_000526.4		71,658,5774	GG,GA,AA		0.0698,18.0209,6.151		185/473	39741280	800,12206	2203	4300	6503	SO:0001819	synonymous_variant	3861	exon2			AAGGACATTGGCA	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.555T>C	17.37:g.39741280A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	102	55	0.539216	NM_000526	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	CCDS11400.1																																																																																			A|0.944;G|0.056	0.056	strong		0.507	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		G	39741280	A	G	39741280	2	3	22	1	0	0	0	0	0	0	0	1	8451	214	8	2		2	KRT14	17	39741280	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	117784	39741280	41453930	8838	13946										
KRT14	3861	hgsc.bcm.edu	37	chr17	39742807	39742807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagccaccacccaagccagCaccaaggccaccaccatatc	5	19	0	0	rs3826550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39742807C>T	ENST00000167586.6	-	1	366	c.280G>A	c.(280-282)Gct>Act	p.A94T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	94	Head.		A -> T (in dbSNP:rs3826550). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.3}.		aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				cccaagccagcaccaaggcca	0.632													C|||	1456	0.290735	0.4153	0.2709	5008	,	,		15358	0.0575		0.4145	False		,,,				2504	0.2495				p.A94T		Atlas-SNP	.											.	KRT14	65	.	0			c.G280A						PASS	.						125	126	126					17																	39742807		2203	4300	6503	SO:0001583	missense	3861	exon1			AGCCAGCACCAAG	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.280G>A	17.37:g.39742807C>T	ENSP00000167586:p.Ala94Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	107	56	0.523364	NM_000526	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	654	0.29945054945054944	202	0.4105691056910569	110	0.30386740331491713	27	0.0472027972027972	315	0.4155672823218997	C	6.698	0.497409	0.12762	.	.	ENSG00000186847	ENST00000167586	D	0.89415	-2.51	5.11	5.11	0.69529	.	0.845655	0.10115	N	0.714173	T	0.00012	0.0000	L	0.58101	1.795	0.46654	P	8.550000000000502E-4	B	0.20780	0.048	B	0.27500	0.08	T	0.08289	-1.0729	9	0.22706	T	0.39	.	14.2293	0.65879	0.0:0.9257:0.0:0.0743	rs3826550;rs17497944;rs17855365;rs17855479;rs3826550	94	P02533	K1C14_HUMAN	T	94	ENSP00000167586:A94T	ENSP00000167586:A94T	A	-	1	0	KRT14	36996333	0.000000	0.05858	0.725000	0.30721	0.013000	0.08279	0.065000	0.14466	2.541000	0.85698	0.549000	0.68633	GCT	C|0.705;T|0.295	0.295	strong		0.632	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		T	39742807	C	T	39742807	3	4	22	1	0	0	0	0	1	0	0	0	8451	710	25	2	1170	2	KRT14	17	39742807	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1527	39742807	41452403	8839	13947										
KRT16	3868	hgsc.bcm.edu	37	chr17	39767947	39767947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatctgcaaaatgggctgCgcattctcaatggtggccgc	11	11	3	0	rs144914208	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39767947C>T	ENST00000301653.4	-	2	622	c.558G>A	c.(556-558)gcG>gcA	p.A186A		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	186	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AAATGGGCTGCGCATTCTCAA	0.577													c|||	105	0.0209665	0.0749	0.0072	5008	,	,		20382	0.0		0.001	False		,,,				2504	0.0				p.A186A		Atlas-SNP	.											KRT16,colon,carcinoma,-1,1	KRT16	45	1	0			c.G558A						PASS	.	T		282,4124	146.5+/-181.1	7,268,1928	29	27	28		558	-7.1	0.3	17	dbSNP_134	28	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	KRT16	NM_005557.3		7,269,6224	TT,TC,CC		0.0116,6.4004,2.1769		186/474	39767947	283,12717	2203	4297	6500	SO:0001819	synonymous_variant	3868	exon2			GGGCTGCGCATTC	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.558G>A	17.37:g.39767947C>T		Somatic	390	0	0		WXS	Illumina HiSeq	Phase_I	379	169	0.44591	NM_005557	A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	CCDS11401.1																																																																																			C|0.978;T|0.022	0.022	strong		0.577	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		T	39767947	C	T	39767947	2	4	22	1	0	0	0	0	0	0	0	1	8453	755	27	1		1	KRT16	17	39767947	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25140	39767947	41427263	8840	13948										
KRT16	3868	hgsc.bcm.edu	37	chr17	39768756	39768756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagccgccccccagcccgCaggctcccccagaggagaag	11	19	0	2	rs367990963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39768756C>T	ENST00000301653.4	-	1	249	c.185G>A	c.(184-186)tGc>tAc	p.C62Y		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCAGCCCGCAGGCTCCCCC	0.687													c|||	4	0.000798722	0.003	0.0	5008	,	,		14972	0.0		0.0	False		,,,				2504	0.0				p.C62Y		Atlas-SNP	.											.	KRT16	45	.	0			c.G185A						PASS	.	C	TYR/CYS	4,4352		0,4,2174	28	35	32		185	3.3	1	17		32	0,8536		0,0,4268	no	missense	KRT16	NM_005557.3	194	0,4,6442	TT,TC,CC		0.0,0.0918,0.031	benign	62/474	39768756	4,12888	2178	4268	6446	SO:0001583	missense	3868	exon1			AGCCCGCAGGCTC	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.185G>A	17.37:g.39768756C>T	ENSP00000301653:p.Cys62Tyr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_005557	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484513	0.44147	9.18E-4	0.0	ENSG00000186832	ENST00000301653	T	0.75260	-0.92	4.33	3.33	0.38152	.	0.000000	0.53938	D	0.000045	T	0.55924	0.1951	N	0.19112	0.55	0.30188	N	0.799798	B	0.31256	0.316	B	0.28553	0.091	T	0.55717	-0.8097	10	0.35671	T	0.21	.	9.6049	0.39628	0.1605:0.6847:0.1548:0.0	.	62	P08779	K1C16_HUMAN	Y	62	ENSP00000301653:C62Y	ENSP00000301653:C62Y	C	-	2	0	KRT16	37022282	0.046000	0.20272	0.997000	0.53966	0.971000	0.66376	0.141000	0.16076	1.127000	0.42034	0.462000	0.41574	TGC	.	.	weak		0.687	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		T	39768756	C	T	39768756	3	4	22	1	0	0	0	0	1	0	0	0	8453	710	25	2	1268	2	KRT16	17	39768756	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	809	39768756	41426454	8841	13949										
HAP1	9001	hgsc.bcm.edu	37	chr17	39884065	39884065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgaagccagctgcttctgCaacttttcagtctcagcccc	7	16	3	0	rs35612698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:39884065C>A	ENST00000310778.5	-	8	1233	c.1224G>T	c.(1222-1224)ttG>ttT	p.L408F	HAP1_ENST00000347901.4_Missense_Mutation_p.L408F|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	408	Glu-rich.|HAP1 N-terminal.		L -> F (in dbSNP:rs35612698).		anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCTGCTTCTGCAACTTTTCAG	0.602													C|||	1184	0.236422	0.1793	0.2493	5008	,	,		20399	0.1935		0.4016	False		,,,				2504	0.1789				p.L408F		Atlas-SNP	.											.	HAP1	48	.	0			c.G1224T						PASS	.	C	,,PHE/LEU	939,3467	354.6+/-312.7	107,725,1371	48	42	44		,,1224	1.3	0.9	17	dbSNP_126	44	3381,5219	496.5+/-374.3	634,2113,1553	yes	intron,intron,missense	HAP1	NM_001079870.1,NM_001079871.1,NM_177977.2	,,22	741,2838,2924	AA,AC,CC		39.314,21.3118,33.2154	,,probably-damaging	,,408/620	39884065	4320,8686	2203	4300	6503	SO:0001583	missense	9001	exon8			CTTCTGCAACTTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1224G>T	17.37:g.39884065C>A	ENSP00000309392:p.Leu408Phe	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	29	0.446154	NM_177977	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		570	0.260989010989011	85	0.17276422764227642	105	0.2900552486187845	84	0.14685314685314685	296	0.39050131926121373	C	14.34	2.505980	0.44558	0.213118	0.39314	ENSG00000173805	ENST00000310778;ENST00000347901	T;T	0.35605	1.3;1.3	3.45	1.28	0.21552	.	.	.	.	.	T	0.00012	0.0000	M	0.79475	2.455	0.31296	P	0.68889	D;D	0.61697	0.99;0.986	P;P	0.62382	0.901;0.894	T	0.36237	-0.9756	8	0.72032	D	0.01	-4.5459	3.4576	0.07521	0.2534:0.6089:0.0:0.1377	rs35612698;rs62065872	408;408	P54257-2;P54257	.;HAP1_HUMAN	F	408	ENSP00000309392:L408F;ENSP00000334002:L408F	ENSP00000309392:L408F	L	-	3	2	HAP1	37137591	0.980000	0.34600	0.928000	0.36995	0.592000	0.36648	0.135000	0.15952	1.809000	0.52856	0.549000	0.68633	TTG	C|0.692;A|0.308	0.308	strong		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		A	39884065	C	A	39884065	3	1	22	1	0	0	0	0	1	0	0	0	6953	709	25	4	651	4	HAP1	17	39884065	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	115309	39884065	41311145	8842	13950										
DNAJC7	7266	hgsc.bcm.edu	37	chr17	40142302	40142302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagccacagactgtgcttcTggataacgacccagcattgc	9	13	1	1	rs1127182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40142302T>C	ENST00000457167.4	-	6	815	c.579A>G	c.(577-579)ccA>ccG	p.P193P	DNAJC7_ENST00000426588.3_Silent_p.P137P|DNAJC7_ENST00000316603.7_Silent_p.P137P	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	193					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ACTGTGCTTCTGGATAACGAC	0.498													T|||	660	0.131789	0.2224	0.0447	5008	,	,		19879	0.124		0.0726	False		,,,				2504	0.1401				p.P193P	Colon(63;618 1117 8600 10857 19751)	Atlas-SNP	.											.	DNAJC7	51	.	0			c.A579G						PASS	.	T	,	722,3230		60,602,1314	60	57	58		411,579	-2.8	1	17	dbSNP_86	58	540,7764		12,516,3624	no	coding-synonymous,coding-synonymous	DNAJC7	NM_001144766.2,NM_003315.3	,	72,1118,4938	CC,CT,TT		6.5029,18.2692,10.297	,	137/439,193/495	40142302	1262,10994	1976	4152	6128	SO:0001819	synonymous_variant	7266	exon6			TGCTTCTGGATAA	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.579A>G	17.37:g.40142302T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	98	50	0.510204	NM_003315	Q7Z784	Silent	SNP	ENST00000457167.4	37	CCDS45677.1																																																																																			T|0.894;C|0.106	0.106	strong		0.498	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			C	40142302	T	C	40142302	2	2	22	1	0	0	0	0	0	0	0	1	4654	1567	55	3		3	DNAJC7	17	40142302	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	258237	40142302	41052908	8843	13951										
DHX58	79132	hgsc.bcm.edu	37	chr17	40255812	40255812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctgcctgctgcagatccCggatctggggtgggaggaga	18	9	1	2	rs2074160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40255812C>T	ENST00000251642.3	-	12	1790	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	523	Repressor domain.		R -> Q (in dbSNP:rs2074160).		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCAGATCCCGGATCTGGGG	0.612													C|||	685	0.136781	0.3086	0.0231	5008	,	,		18710	0.1667		0.0239	False		,,,				2504	0.0706				p.R523Q		Atlas-SNP	.											.	DHX58	39	.	0			c.G1568A						PASS	.	C	GLN/ARG	1225,3181		167,891,1145	33	32	32		1568	-5.6	0.1	17	dbSNP_96	32	165,8435		2,161,4137	yes	missense	DHX58	NM_024119.2	43	169,1052,5282	TT,TC,CC		1.9186,27.803,10.6874	benign	523/679	40255812	1390,11616	2203	4300	6503	SO:0001583	missense	79132	exon12			AGATCCCGGATCT	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1568G>A	17.37:g.40255812C>T	ENSP00000251642:p.Arg523Gln	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	45	26	0.577778	NM_024119	Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	255	0.11675824175824176	159	0.3231707317073171	6	0.016574585635359115	76	0.13286713286713286	14	0.018469656992084433	C	5.340	0.248132	0.10130	0.27803	0.019186	ENSG00000108771	ENST00000251642	T	0.04551	3.6	5.62	-5.56	0.02529	.	1.612920	0.03016	N	0.150031	T	0.00012	0.0000	N	0.16066	0.365	0.80722	P	0.0	B;B	0.14438	0.006;0.01	B;B	0.06405	0.002;0.002	T	0.48525	-0.9028	9	0.11182	T	0.66	.	7.5574	0.27833	0.134:0.3672:0.0:0.4988	rs2074160;rs52795470;rs2074160	516;523	B7Z455;Q96C10	.;DHX58_HUMAN	Q	523	ENSP00000251642:R523Q	ENSP00000251642:R523Q	R	-	2	0	DHX58	37509338	0.000000	0.05858	0.079000	0.20413	0.553000	0.35397	-2.754000	0.00790	-0.693000	0.05121	-0.749000	0.03505	CGG	C|0.886;T|0.114	0.114	strong		0.612	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		T	40255812	C	T	40255812	3	4	22	1	0	0	0	0	1	0	0	0	4514	652	23	1	480	1	DHX58	17	40255812	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	113510	40255812	40939398	8844	13952										
PTRF	284119	hgsc.bcm.edu	37	chr17	40556951	40556951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaccgcggtcttggagcgCgcgtacaccacgtggtcggg	16	12	1	1	rs112332573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40556951C>T	ENST00000357037.5	-	2	1346	c.927G>A	c.(925-927)gcG>gcA	p.A309A		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTGGAGCGCGCGTACACCA	0.647													C|||	92	0.0183706	0.0696	0.0	5008	,	,		12868	0.0		0.0	False		,,,				2504	0.0				p.A309A		Atlas-SNP	.											.	PTRF	48	.	0			c.G927A						PASS	.	C		259,4147	148.4+/-182.8	10,239,1954	104	89	94		927	0.5	1	17	dbSNP_132	94	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	PTRF	NM_012232.5		10,244,6249	TT,TC,CC		0.0581,5.8783,2.0298		309/391	40556951	264,12742	2203	4300	6503	SO:0001819	synonymous_variant	284119	exon2			GGAGCGCGCGTAC	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.927G>A	17.37:g.40556951C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	172	92	0.534884	NM_012232		Silent	SNP	ENST00000357037.5	37	CCDS11425.1																																																																																			C|0.981;T|0.019	0.019	strong		0.647	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		T	40556951	C	T	40556951	2	4	22	1	0	0	0	0	0	0	0	1	12815	755	27	1		1	PTRF	17	40556951	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	301139	40556951	40638259	8845	13953										
PSMC3IP	29893	hgsc.bcm.edu	37	chr17	40725379	40725379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtacttctgcctctctctgtAcacctagaaggaaaaagcaa	7	11	3	1	rs2292754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40725379A>T	ENST00000393795.3	-	6	595	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	PSMC3IP_ENST00000253789.5_Missense_Mutation_p.Y151N|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.Y38N|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.Y100N	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	163	DNA binding. {ECO:0000250}.		Y -> N (in dbSNP:rs2292754).		DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTCTCTCTGTACACCTAGAAG	0.537													A|||	450	0.0898562	0.1293	0.0331	5008	,	,		21171	0.1855		0.005	False		,,,				2504	0.0654				p.Y163N		Atlas-SNP	.											.	PSMC3IP	23	.	0			c.T487A						PASS	.	A	ASN/TYR,ASN/TYR	442,3964	212.8+/-232.6	29,384,1790	184	146	159		451,487	4.8	0.8	17	dbSNP_100	159	36,8564	24.6+/-71.5	0,36,4264	yes	missense,missense	PSMC3IP	NM_013290.5,NM_016556.2	143,143	29,420,6054	TT,TA,AA		0.4186,10.0318,3.6752	benign,benign	151/206,163/218	40725379	478,12528	2203	4300	6503	SO:0001583	missense	29893	exon6			CTCTGTACACCTA	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.487T>A	17.37:g.40725379A>T	ENSP00000377384:p.Tyr163Asn	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	201	89	0.442786	NM_016556	C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	CCDS45688.1	171	0.0782967032967033	74	0.15040650406504066	3	0.008287292817679558	90	0.15734265734265734	4	0.005277044854881266	A	12.06	1.825009	0.32237	0.100318	0.004186	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.42131	0.98;0.98	5.93	4.84	0.62591	.	0.111391	0.64402	D	0.000006	T	0.00178	0.0005	L	0.60957	1.885	0.09310	P	0.99999819491	B;B	0.18461	0.023;0.028	B;B	0.20384	0.017;0.029	T	0.10428	-1.0630	9	0.15952	T	0.53	-4.7468	13.3644	0.60676	0.8684:0.1316:0.0:0.0	rs2292754;rs52820455;rs2292754	151;163	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	N	163;151	ENSP00000377384:Y163N;ENSP00000253789:Y151N	ENSP00000253789:Y151N	Y	-	1	0	PSMC3IP	37978905	0.928000	0.31464	0.786000	0.31890	0.516000	0.34256	2.116000	0.41930	1.043000	0.40175	0.460000	0.39030	TAC	A|0.948;T|0.052	0.052	strong		0.537	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		T	40725379	A	T	40725379	3	4	22	1	0	0	0	0	1	0	0	0	12688	391	14	5	178	5	PSMC3IP	17	40725379	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	168428	40725379	40469831	8846	13954										
CNTNAP1	8506	hgsc.bcm.edu	37	chr17	40841001	40841001	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactggtcaacctgactctgGtggagggccggcggcttgga	16	10	2	1	rs35437096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40841001G>C	ENST00000264638.4	+	10	1781	c.1564G>C	c.(1564-1566)Gtg>Ctg	p.V522L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	522	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		V -> L (in dbSNP:rs35437096).		axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTGACTCTGGTGGAGGGCCG	0.562													G|||	202	0.0403355	0.143	0.0173	5008	,	,		17992	0.0		0.001	False		,,,				2504	0.0				p.V522L		Atlas-SNP	.											CNTNAP1,uveal_tract,malignant_melanoma,-1,1	CNTNAP1	116	1	0			c.G1564C						scavenged	.	G	LEU/VAL	536,3870	243.1+/-252.9	38,460,1705	138	126	130		1564	3.7	1	17	dbSNP_126	130	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CNTNAP1	NM_003632.2	32	38,464,6001	CC,CG,GG		0.0465,12.1652,4.1519	benign	522/1385	40841001	540,12466	2203	4300	6503	SO:0001583	missense	8506	exon10			ACTCTGGTGGAGG	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1564G>C	17.37:g.40841001G>C	ENSP00000264638:p.Val522Leu	Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	109	53	0.486239	NM_003632		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	58	0.026556776556776556	48	0.0975609756097561	9	0.024861878453038673	0	0.0	1	0.0013192612137203166	G	13.62	2.290608	0.40494	0.121652	4.65E-4	ENSG00000108797	ENST00000264638	T	0.76186	-1.0	4.73	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.181748	0.37715	N	0.001970	T	0.01695	0.0054	L	0.45352	1.415	0.33613	D	0.60377	B	0.06786	0.001	B	0.06405	0.002	T	0.37478	-0.9704	10	0.39692	T	0.17	.	9.0628	0.36444	0.083:0.2588:0.6582:0.0	rs35437096	522	P78357	CNTP1_HUMAN	L	522	ENSP00000264638:V522L	ENSP00000264638:V522L	V	+	1	0	CNTNAP1	38094527	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.118000	0.41949	2.449000	0.82847	0.561000	0.74099	GTG	G|0.961;C|0.039	0.039	strong		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		C	40841001	G	C	40841001	3	2	22	1	0	0	0	0	1	0	0	0	3646	1261	44	4	1602	4	CNTNAP1	17	40841001	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115622	40841001	40354209	8847	13955										
VPS25	84313	hgsc.bcm.edu	37	chr17	40926695	40926695	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggagtcgatccagattgtAttagaggaactgaggaagaa	14	4	0	4	rs2305218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40926695A>T	ENST00000253794.2	+	3	271	c.231A>T	c.(229-231)gtA>gtT	p.V77V		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	77					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCCAGATTGTATTAGAGGAAC	0.428													A|||	518	0.103435	0.1021	0.0418	5008	,	,		15999	0.1825		0.0318	False		,,,				2504	0.1411				p.V77V		Atlas-SNP	.											.	VPS25	11	.	0			c.A231T						PASS	.	A		421,3985	205.8+/-227.6	22,377,1804	122	118	119		231	-3.2	1	17	dbSNP_100	119	214,8386	90.4+/-152.6	0,214,4086	no	coding-synonymous	VPS25	NM_032353.2		22,591,5890	TT,TA,AA		2.4884,9.5552,4.8824		77/177	40926695	635,12371	2203	4300	6503	SO:0001819	synonymous_variant	84313	exon3			GATTGTATTAGAG	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.231A>T	17.37:g.40926695A>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	165	80	0.484848	NM_032353	B2R581	Silent	SNP	ENST00000253794.2	37	CCDS11438.1																																																																																			A|0.936;T|0.064	0.064	strong		0.428	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		T	40926695	A	T	40926695	2	4	22	1	0	0	0	0	0	0	0	1	17193	436	16	5		5	VPS25	17	40926695	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85694	40926695	40268515	8848	13956										
VPS25	84313	hgsc.bcm.edu	37	chr17	40931054	40931054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaggccgagatcatcacTgtcagcgatggccgaggcgt	13	12	3	1	rs3744239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40931054T>C	ENST00000253794.2	+	6	538	c.498T>C	c.(496-498)acT>acC	p.T166T	WNK4_ENST00000246914.5_5'Flank	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	166					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AGATCATCACTGTCAGCGATG	0.562													C|||	691	0.137979	0.382	0.0346	5008	,	,		20764	0.0387		0.005	False		,,,				2504	0.1207				p.T166T		Atlas-SNP	.											.	VPS25	11	.	0			c.T498C						PASS	.	C		1440,2966	681.5+/-404.0	241,958,1004	92	80	84		498	-9.1	0	17	dbSNP_107	84	19,8581	818.5+/-406.9	0,19,4281	no	coding-synonymous	VPS25	NM_032353.2		241,977,5285	CC,CT,TT		0.2209,32.6827,11.2179		166/177	40931054	1459,11547	2203	4300	6503	SO:0001819	synonymous_variant	84313	exon6			CATCACTGTCAGC	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.498T>C	17.37:g.40931054T>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	157	86	0.547771	NM_032353	B2R581	Silent	SNP	ENST00000253794.2	37	CCDS11438.1																																																																																			T|0.877;C|0.123	0.123	strong		0.562	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		C	40931054	T	C	40931054	2	2	22	1	0	0	0	0	0	0	0	1	17193	1567	55	3		3	VPS25	17	40931054	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4359	40931054	40264156	8849	13957										
WNK4	65266	hgsc.bcm.edu	37	chr17	40939460	40939460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaactgtgcccatggcCcccggtccccccagtgtctt	9	19	1	0	rs9916754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40939460C>T	ENST00000246914.5	+	7	1662	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	547					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCCCATGGCCCCCGGTCCCC	0.617													T|||	515	0.102835	0.2557	0.0231	5008	,	,		16975	0.0387		0.004	False		,,,				2504	0.1207				p.A547A	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											.	WNK4	182	.	0			c.C1641T						PASS	.	T		1002,3404	730.1+/-410.1	116,770,1317	108	106	106		1641	2.5	0.1	17	dbSNP_119	106	11,8589	818.8+/-406.8	0,11,4289	no	coding-synonymous	WNK4	NM_032387.4		116,781,5606	TT,TC,CC		0.1279,22.7417,7.7887		547/1244	40939460	1013,11993	2203	4300	6503	SO:0001819	synonymous_variant	65266	exon7			CATGGCCCCCGGT	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1641C>T	17.37:g.40939460C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	CCDS11439.1																																																																																			C|0.919;T|0.081	0.081	strong		0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40939460	C	T	40939460	2	4	22	1	0	0	0	0	0	0	0	1	17377	610	22	2		2	WNK4	17	40939460	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8406	40939460	40255750	8850	13958										
WNK4	65266	hgsc.bcm.edu	37	chr17	40939855	40939855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggatgcctcagaccctGcccttcagccccctgggggg	12	17	2	1	rs55781437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40939855G>T	ENST00000246914.5	+	8	1822	c.1801G>T	c.(1801-1803)Gcc>Tcc	p.A601S	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	601			A -> S (in dbSNP:rs55781437).		chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCAGACCCTGCCCTTCAGCC	0.622													G|||	514	0.102636	0.2549	0.0231	5008	,	,		17169	0.0387		0.004	False		,,,				2504	0.1207				p.A601S	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											WNK4_ENST00000246914,NS,carcinoma,0,2	WNK4	182	2	0			c.G1801T						PASS	.	G	SER/ALA	890,3420		90,710,1355	39	42	41		1801	4.1	1	17	dbSNP_129	41	10,8456		0,10,4223	yes	missense	WNK4	NM_032387.4	99	90,720,5578	TT,TG,GG		0.1181,20.6497,7.0445	benign	601/1244	40939855	900,11876	2155	4233	6388	SO:0001583	missense	65266	exon8			GACCCTGCCCTTC	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1801G>T	17.37:g.40939855G>T	ENSP00000246914:p.Ala601Ser	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	144	0.06593406593406594	112	0.22764227642276422	7	0.019337016574585635	22	0.038461538461538464	3	0.00395778364116095	G	11.42	1.633369	0.29068	0.206497	0.001181	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.69926	-0.44	5.11	4.07	0.47477	.	0.146668	0.31542	N	0.007471	T	0.00039	0.0001	N	0.22421	0.69	0.40049	P	0.024248999999999965	B;B;B	0.21520	0.05;0.057;0.057	B;B;B	0.23574	0.047;0.02;0.02	T	0.04191	-1.0970	9	0.19147	T	0.46	-16.9249	7.9074	0.29769	0.0:0.1744:0.6453:0.1803	rs55781437;rs61755596	601;601;601	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	S	601;373	ENSP00000246914:A601S	ENSP00000246914:A601S	A	+	1	0	WNK4	38193381	0.733000	0.28132	1.000000	0.80357	0.957000	0.61999	1.160000	0.31761	2.381000	0.81170	0.555000	0.69702	GCC	G|0.929;T|0.071	0.071	strong		0.622	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40939855	G	T	40939855	3	4	22	1	0	0	0	0	1	0	0	0	17377	1319	46	4	1831	4	WNK4	17	40939855	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	395	40939855	40255355	8851	13959										
WNK4	65266	hgsc.bcm.edu	37	chr17	40946913	40946913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggaacccccatttcccCaggtcccatcttccccatca	4	21	2	0	rs56226218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40946913C>T	ENST00000246914.5	+	14	2495	c.2474C>T	c.(2473-2475)cCa>cTa	p.P825L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	825					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCATTTCCCCAGGTCCCATC	0.577													C|||	140	0.0279553	0.1021	0.0072	5008	,	,		15756	0.0		0.0	False		,,,				2504	0.0				p.P825L	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											.	WNK4	182	.	0			c.C2474T						PASS	.	C	LEU/PRO	391,4015	196.4+/-220.7	17,357,1829	135	123	127		2474	4.6	0.9	17	dbSNP_129	127	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WNK4	NM_032387.4	98	17,358,6128	TT,TC,CC		0.0116,8.8743,3.014	benign	825/1244	40946913	392,12614	2203	4300	6503	SO:0001583	missense	65266	exon14			TTTCCCCAGGTCC	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2474C>T	17.37:g.40946913C>T	ENSP00000246914:p.Pro825Leu	Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	279	145	0.519713	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	12.50	1.956295	0.34565	0.088743	1.16E-4	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73363	-0.74	5.58	4.59	0.56863	.	0.143817	0.32301	N	0.006288	T	0.04588	0.0125	L	0.29908	0.895	0.47659	D	0.999481	B;B;B	0.32653	0.379;0.261;0.006	B;B;B	0.28553	0.091;0.042;0.012	T	0.14587	-1.0467	10	0.51188	T	0.08	-4.1586	8.3488	0.32290	0.1564:0.7652:0.0:0.0784	rs56226218;rs61755625	825;825;825	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	L	825;597	ENSP00000246914:P825L	ENSP00000246914:P825L	P	+	2	0	WNK4	38200439	0.989000	0.36119	0.913000	0.36048	0.211000	0.24417	3.653000	0.54446	1.444000	0.47605	0.591000	0.81541	CCA	C|0.974;T|0.026	0.026	strong		0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40946913	C	T	40946913	3	4	22	1	0	0	0	0	1	0	0	0	17377	594	21	2	2528	2	WNK4	17	40946913	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7058	40946913	40248297	8852	13960										
WNK4	65266	hgsc.bcm.edu	37	chr17	40947163	40947163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttcccctttctttcctccGtgcccctccacttcttcctt	3	19	2	0	rs2290042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40947163G>A	ENST00000246914.5	+	14	2745	c.2724G>A	c.(2722-2724)ccG>ccA	p.P908P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	908					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCTTTCCTCCGTGCCCCTCCA	0.572													A|||	515	0.102835	0.2557	0.0231	5008	,	,		16077	0.0387		0.004	False		,,,				2504	0.1207				p.P908P	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											.	WNK4	182	.	0			c.G2724A						PASS	.	A		1002,3404	730.3+/-410.1	116,770,1317	275	253	260		2724	-4.8	0	17	dbSNP_100	260	11,8589	818.8+/-406.8	0,11,4289	no	coding-synonymous	WNK4	NM_032387.4		116,781,5606	AA,AG,GG		0.1279,22.7417,7.7887		908/1244	40947163	1013,11993	2203	4300	6503	SO:0001819	synonymous_variant	65266	exon14			TCCTCCGTGCCCC	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2724G>A	17.37:g.40947163G>A		Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	275	139	0.505455	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	CCDS11439.1																																																																																			G|0.918;A|0.082	0.082	strong		0.572	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			A	40947163	G	A	40947163	2	1	22	1	0	0	0	0	0	0	0	1	17377	1132	40	1		1	WNK4	17	40947163	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	250	40947163	40248047	8853	13961										
WNK4	65266	hgsc.bcm.edu	37	chr17	40947320	40947320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccctcctagtcccctcCctagcctgccccttccccct	4	25	0	0	rs2290041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40947320C>T	ENST00000246914.5	+	14	2902	c.2881C>T	c.(2881-2883)Cct>Tct	p.P961S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	961			P -> S (in dbSNP:rs2290041).		chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TAGTCCCCTCCCTAGCCTGCC	0.622													C|||	515	0.102835	0.2557	0.0231	5008	,	,		15268	0.0387		0.004	False		,,,				2504	0.1207				p.P961S	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											.	WNK4	182	.	0			c.C2881T						PASS	.	C	SER/PRO	1003,3403	372.2+/-320.3	117,769,1317	63	61	62		2881	4.7	0.1	17	dbSNP_100	62	11,8589	8.4+/-32.0	0,11,4289	yes	missense	WNK4	NM_032387.4	74	117,780,5606	TT,TC,CC		0.1279,22.7644,7.7964	possibly-damaging	961/1244	40947320	1014,11992	2203	4300	6503	SO:0001583	missense	65266	exon14			CCCCTCCCTAGCC	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2881C>T	17.37:g.40947320C>T	ENSP00000246914:p.Pro961Ser	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	144	0.06593406593406594	112	0.22764227642276422	7	0.019337016574585635	22	0.038461538461538464	3	0.00395778364116095	C	0.472	-0.883791	0.02530	0.227644	0.001279	ENSG00000126562	ENST00000246914	T	0.72725	-0.68	5.62	4.65	0.58169	.	0.153235	0.30667	N	0.009130	T	0.00039	0.0001	L	0.32530	0.975	0.09310	P	0.9999999663314	B;B;P	0.35507	0.176;0.11;0.506	B;B;B	0.28849	0.095;0.024;0.074	T	0.09250	-1.0683	9	0.15499	T	0.54	-6.1739	9.9084	0.41390	0.1386:0.7885:0.0:0.0728	rs2290041;rs52823239;rs56682713	961;961;961	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	S	961	ENSP00000246914:P961S	ENSP00000246914:P961S	P	+	1	0	WNK4	38200846	0.000000	0.05858	0.052000	0.19188	0.169000	0.22640	0.290000	0.18975	1.370000	0.46153	0.591000	0.81541	CCT	C|0.927;T|0.073	0.073	strong		0.622	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40947320	C	T	40947320	3	4	22	1	0	0	0	0	1	0	0	0	17377	623	22	2	2935	2	WNK4	17	40947320	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	157	40947320	40247890	8854	13962										
CNTD1	124817	hgsc.bcm.edu	37	chr17	40957849	40957849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgaagtccttgaacttccGaattaatctgcccactcccc	5	14	1	2	rs61995868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:40957849G>A	ENST00000588408.1	+	4	803	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	CNTD1_ENST00000588527.1_Missense_Mutation_p.R93Q|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	176	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGAACTTCCGAATTAATCTG	0.438													A|||	698	0.139377	0.3865	0.0346	5008	,	,		18180	0.0397		0.005	False		,,,				2504	0.1207				p.R176Q		Atlas-SNP	.											.	CNTD1	22	.	0			c.G527A						PASS	.	A	GLN/ARG	1454,2952	681.0+/-403.9	247,960,996	103	97	99		527	5.8	1	17	dbSNP_129	99	18,8582	818.5+/-406.9	0,18,4282	yes	missense	CNTD1	NM_173478.2	43	247,978,5278	AA,AG,GG		0.2093,33.0005,11.3179	benign	176/331	40957849	1472,11534	2203	4300	6503	SO:0001583	missense	124817	exon4			ACTTCCGAATTAA	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.527G>A	17.37:g.40957849G>A	ENSP00000465204:p.Arg176Gln	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	146	74	0.506849	NM_173478	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	CCDS11440.1	229	0.10485347985347986	193	0.39227642276422764	10	0.027624309392265192	22	0.038461538461538464	4	0.005277044854881266	A	8.649	0.897733	0.17686	0.330005	0.002093	ENSG00000176563	ENST00000315066	.	.	.	5.78	5.78	0.91487	Cyclin, N-terminal (1);Cyclin-like (2);	0.161867	0.56097	N	0.000032	T	0.00012	0.0000	N	0.01146	-0.985	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	8	0.02654	T	1	-3.9094	11.9544	0.52973	0.9322:0.0:0.0678:0.0	rs61995868	176	Q8N815	CNTD1_HUMAN	Q	176	.	ENSP00000316647:R176Q	R	+	2	0	CNTD1	38211375	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.746000	0.47467	1.012000	0.39366	-0.269000	0.10298	CGA	G|0.891;A|0.109	0.109	strong		0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		A	40957849	G	A	40957849	3	1	22	1	0	0	0	0	1	0	0	0	3635	1058	37	1	541	1	CNTD1	17	40957849	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10529	40957849	40237361	8855	13963										
BRCA1	672	hgsc.bcm.edu	37	chr17	41245643	41245643	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaatttgcaattcagtacaAttaggtgggcttagatttct	8	6	3	1	rs369373293		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:41245643A>G	ENST00000357654.3	-	10	2023	c.1905T>C	c.(1903-1905)aaT>aaC	p.N635N	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Silent_p.N635N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Silent_p.N635N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Silent_p.N588N|BRCA1_ENST00000309486.4_Silent_p.N339N|BRCA1_ENST00000471181.2_Silent_p.N635N|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	635					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCAGTACAATTAGGTGGGC	0.388			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.N635N		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.T1905C						PASS	.	A	,,,,	2,4404	4.2+/-10.8	0,2,2201	94	92	93		1905,1764,,,1905	1.6	0	17		93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	BRCA1	NM_007294.3,NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3	,,,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,,,	635/1864,588/1817,,,635/1885	41245643	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	672	exon10	Familial Cancer Database		AGTACAATTAGGT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1905T>C	17.37:g.41245643A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	136	61	0.448529	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																			.	.	weak		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		G	41245643	A	G	41245643	2	3	22	1	0	0	0	0	0	0	0	1	1498	98	4	2		2	BRCA1	17	41245643	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	287794	41245643	39949567	8856	13964										
ARL4D	379	hgsc.bcm.edu	37	chr17	41477670	41477670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgagatgatcctcaagagGaagaaggcagctcggggtgg	16	6	1	4	rs61749921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:41477670G>A	ENST00000320033.4	+	2	777	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	190					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCTCAAGAGGAAGAAGGCAG	0.622													G|||	83	0.0165735	0.0613	0.0029	5008	,	,		16722	0.0		0.0	False		,,,				2504	0.0				p.R190R		Atlas-SNP	.											.	ARL4D	16	.	0			c.G570A						PASS	.	G		190,4178		2,186,1996	19	19	19		570	-0.6	1	17	dbSNP_129	19	1,8523		0,1,4261	no	coding-synonymous	ARL4D	NM_001661.3		2,187,6257	AA,AG,GG		0.0117,4.3498,1.4815		190/202	41477670	191,12701	2184	4262	6446	SO:0001819	synonymous_variant	379	exon2			CAAGAGGAAGAAG	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.570G>A	17.37:g.41477670G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	49	28	0.571429	NM_001661	B2RC59|D3DX43	Silent	SNP	ENST00000320033.4	37	CCDS11463.1																																																																																			G|0.979;A|0.021	0.021	strong		0.622	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		A	41477670	G	A	41477670	2	1	22	1	0	0	0	0	0	0	0	1	938	1165	41	2		2	ARL4D	17	41477670	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	232027	41477670	39717540	8857	13965										
DHX8	1659	hgsc.bcm.edu	37	chr17	41570819	41570819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctctccctcaggaagcgGtgggaaggcctggtgcacat	15	11	2	0	rs146528228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:41570819G>A	ENST00000262415.3	+	7	942	c.870G>A	c.(868-870)cgG>cgA	p.R290R	DHX8_ENST00000540306.1_Silent_p.R290R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	290	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCAGGAAGCGGTGGGAAGGCC	0.512													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19930	0.0		0.0	False		,,,				2504	0.0				p.R290R	NSCLC(56;1548 1661 49258 49987)	Atlas-SNP	.											.	DHX8	98	.	0			c.G870A						PASS	.	G		31,4375	36.8+/-68.6	0,31,2172	96	92	93		870	0.8	1	17	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	DHX8	NM_004941.1		0,31,6472	AA,AG,GG		0.0,0.7036,0.2384		290/1221	41570819	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	1659	exon7			GAAGCGGTGGGAA	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.870G>A	17.37:g.41570819G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_004941		Silent	SNP	ENST00000262415.3	37	CCDS11464.1																																																																																			G|0.998;A|0.002	0.002	strong		0.512	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			A	41570819	G	A	41570819	2	1	22	1	0	0	0	0	0	0	0	1	4515	1248	44	2		2	DHX8	17	41570819	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	93149	41570819	39624391	8858	13966										
C17orf53	78995	hgsc.bcm.edu	37	chr17	42225250	42225250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgtctgctgtggaggatGcagagaaccggtttactggc	14	8	2	1	rs35879996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42225250G>A	ENST00000319977.4	+	3	316	c.79G>A	c.(79-81)Gca>Aca	p.A27T	C17orf53_ENST00000585683.1_Missense_Mutation_p.A27T|C17orf53_ENST00000245382.6_Missense_Mutation_p.A27T	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	27										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGTGGAGGATGCAGAGAACCG	0.532													G|||	94	0.01877	0.0681	0.0058	5008	,	,		20182	0.0		0.0	False		,,,				2504	0.0				p.A27T		Atlas-SNP	.											.	C17orf53	59	.	0			c.G79A						PASS	.	G	THR/ALA,THR/ALA	223,4183	127.4+/-164.3	2,219,1982	57	58	58		79,79	2	1	17	dbSNP_126	58	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense	C17orf53	NM_001171251.1,NM_024032.3	58,58	2,224,6277	AA,AG,GG		0.0581,5.0613,1.753	probably-damaging,probably-damaging	27/647,27/648	42225250	228,12778	2203	4300	6503	SO:0001583	missense	78995	exon3			GAGGATGCAGAGA	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.79G>A	17.37:g.42225250G>A	ENSP00000313500:p.Ala27Thr	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_001171251	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	34	0.015567765567765568	31	0.06300813008130081	3	0.008287292817679558	0	0.0	0	0.0	G	18.70	3.679486	0.68042	0.050613	5.81E-4	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.52057	0.68;0.68	5.28	2.05	0.26809	.	0.355277	0.25487	N	0.030330	T	0.07098	0.0180	L	0.46157	1.445	0.27350	N	0.956269	P;B;P	0.51537	0.946;0.15;0.946	P;B;P	0.48677	0.586;0.044;0.586	T	0.01834	-1.1264	10	0.40728	T	0.16	-5.352	7.9308	0.29901	0.3513:0.0:0.6487:0.0	rs35879996	27;27;27	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	T	27	ENSP00000313500:A27T;ENSP00000245382:A27T	ENSP00000245382:A27T	A	+	1	0	C17orf53	39580776	0.992000	0.36948	1.000000	0.80357	0.960000	0.62799	2.005000	0.40864	0.797000	0.33971	0.561000	0.74099	GCA	G|0.983;A|0.017	0.017	strong		0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		A	42225250	G	A	42225250	3	1	22	1	0	0	0	0	1	0	0	0	1862	1319	46	2	89	2	C17orf53	17	42225250	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	654431	42225250	38969960	8859	13967										
ASB16	92591	hgsc.bcm.edu	37	chr17	42248205	42248205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccatgctgcgctctctCcgcctgcagcaggagtggct	11	16	1	0	rs56265171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42248205C>T	ENST00000293414.1	+	1	132	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	16					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCGCTCTCTCCGCCTGCAGC	0.697													C|||	168	0.0335463	0.1203	0.0115	5008	,	,		15859	0.0		0.001	False		,,,				2504	0.0				p.L16L		Atlas-SNP	.											.	ASB16	34	.	0			c.C48T						PASS	.	C		417,3989	196.4+/-220.7	17,383,1803	36	34	35		48	1.8	1	17	dbSNP_129	35	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	ASB16	NM_080863.4		17,388,6098	TT,TC,CC		0.0581,9.4644,3.2447		16/454	42248205	422,12584	2203	4300	6503	SO:0001819	synonymous_variant	92591	exon1			CTCTCTCCGCCTG	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.48C>T	17.37:g.42248205C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	190	103	0.542105	NM_080863	B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	CCDS11478.1																																																																																			C|0.967;T|0.033	0.033	strong		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			T	42248205	C	T	42248205	2	4	22	1	0	0	0	0	0	0	0	1	1020	842	30	2		2	ASB16	17	42248205	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22955	42248205	38947005	8860	13968										
ASB16	92591	hgsc.bcm.edu	37	chr17	42254165	42254165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggcagcaggcgagagccAggagacgcccctgcacgtgg	16	14	0	2	rs146134954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42254165A>G	ENST00000293414.1	+	3	713	c.629A>G	c.(628-630)cAg>cGg	p.Q210R	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCGAGAGCCAGGAGACGCCC	0.672													A|||	65	0.0129792	0.0477	0.0029	5008	,	,		13770	0.0		0.0	False		,,,				2504	0.0				p.Q210R		Atlas-SNP	.											.	ASB16	34	.	0			c.A629G						PASS	.	A	ARG/GLN,	154,4252	103.4+/-141.9	4,146,2053	52	51	52		629,456	4.7	0.1	17	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,coding-synonymous	ASB16,C17orf65	NM_080863.4,NM_178542.3	43,	4,148,6351	GG,GA,AA		0.0233,3.4952,1.1994	benign,	210/454,152/194	42254165	156,12850	2203	4300	6503	SO:0001583	missense	92591	exon3			AGAGCCAGGAGAC	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.629A>G	17.37:g.42254165A>G	ENSP00000293414:p.Gln210Arg	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	60	19	0.316667	NM_080863	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	A	2.058	-0.416098	0.04766	0.034952	2.33E-4	ENSG00000161664	ENST00000293414	T	0.63913	-0.07	4.73	4.73	0.59995	Ankyrin repeat-containing domain (3);	0.305652	0.34067	N	0.004299	T	0.05456	0.0144	N	0.16602	0.42	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04650	-1.0936	10	0.10902	T	0.67	-8.7467	5.8244	0.18546	0.8141:0.0:0.1859:0.0	.	210	Q96NS5	ASB16_HUMAN	R	210	ENSP00000293414:Q210R	ENSP00000293414:Q210R	Q	+	2	0	ASB16	39609691	0.009000	0.17119	0.120000	0.21714	0.087000	0.18053	1.072000	0.30678	1.985000	0.57927	0.374000	0.22700	CAG	A|0.987;G|0.013	0.013	strong		0.672	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			G	42254165	A	G	42254165	3	3	22	1	0	0	0	0	1	0	0	0	1020	188	7	3	639	3	ASB16	17	42254165	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5960	42254165	38941045	8861	13969										
UBTF	7343	hgsc.bcm.edu	37	chr17	42284951	42284951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcctcatcctcttcatcAtcctcctcggactccttgga	4	17	5	0	rs113823176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42284951A>G	ENST00000302904.4	-	20	2532	c.2040T>C	c.(2038-2040)gaT>gaC	p.D680D	UBTF_ENST00000527034.1_Missense_Mutation_p.M642T|UBTF_ENST00000436088.1_Silent_p.D680D|UBTF_ENST00000529383.1_Silent_p.D680D|UBTF_ENST00000343638.5_Silent_p.D643D|UBTF_ENST00000393606.3_Silent_p.D643D|UBTF_ENST00000526094.1_Silent_p.D643D|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.D643D			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	680	Asp/Glu/Ser-rich (acidic).				chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		cctcttcatcatcctcctcGG	0.587													A|||	59	0.0117812	0.0431	0.0029	5008	,	,		17778	0.0		0.0	False		,,,				2504	0.0				p.D680D		Atlas-SNP	.											.	UBTF	65	.	0			c.T2040C						PASS	.	A	,,	105,4301	82.4+/-120.9	1,103,2099	156	104	122		1929,1929,2040	-5.1	0.5	17	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	UBTF	NM_001076683.1,NM_001076684.2,NM_014233.3	,,	1,103,6399	GG,GA,AA		0.0,2.3831,0.8073	,,	643/728,643/728,680/765	42284951	105,12901	2203	4300	6503	SO:0001819	synonymous_variant	7343	exon20			TTCATCATCCTCC	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.2040T>C	17.37:g.42284951A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	223	118	0.529148	NM_014233	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	A	10.81	1.455714	0.26161	0.023831	0.0	ENSG00000108312	ENST00000527034	D	0.98280	-4.84	5.05	-5.13	0.02884	.	.	.	.	.	D	0.84840	0.5561	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84157	0.0426	6	0.33940	T	0.23	-7.4078	5.2771	0.15655	0.2064:0.218:0.469:0.1066	.	.	.	.	T	642	ENSP00000431539:M642T	ENSP00000431539:M642T	M	-	2	0	UBTF	39640477	0.000000	0.05858	0.464000	0.27143	0.990000	0.78478	-2.032000	0.01426	-1.382000	0.02109	0.402000	0.26972	ATG	A|0.990;G|0.010	0.010	strong		0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		G	42284951	A	G	42284951	2	3	22	1	0	0	0	0	0	0	0	1	16906	214	8	2		2	UBTF	17	42284951	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30786	42284951	38910259	8862	13970										
RUNDC3A	10900	hgsc.bcm.edu	37	chr17	42392622	42392622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacctcccgctcgtcaccgaTgaggacagctggtacagcaa	10	14	1	1	rs708386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42392622T>C	ENST00000426726.3	+	7	1003	c.729T>C	c.(727-729)gaT>gaC	p.D243D	RUNDC3A_ENST00000225441.7_Silent_p.D243D|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Silent_p.D238D	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	243	Interaction with RAP2A. {ECO:0000250}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTCACCGATGAGGACAGCT	0.682													C|||	3162	0.63139	0.711	0.5634	5008	,	,		10721	0.9097		0.3877	False		,,,				2504	0.5358				p.D243D	Pancreas(82;1061 1416 11136 20771 23901)	Atlas-SNP	.											.	RUNDC3A	30	.	0			c.T729C						PASS	.	C	,,	2366,1526		763,840,343	8	13	11		729,714,729	1.1	1	17	dbSNP_86	11	2711,5087		530,1651,1718	no	coding-synonymous,coding-synonymous,coding-synonymous	RUNDC3A	NM_001144825.1,NM_001144826.1,NM_006695.4	,,	1293,2491,2061	CC,CT,TT		34.7653,39.2086,43.4303	,,	243/447,238/401,243/406	42392622	5077,6613	1946	3899	5845	SO:0001819	synonymous_variant	10900	exon7			CACCGATGAGGAC	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.729T>C	17.37:g.42392622T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_001144825	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	CCDS45698.1																																																																																			T|0.367;C|0.633	0.633	strong		0.682	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		C	42392622	T	C	42392622	2	2	22	1	0	0	0	0	0	0	0	1	13744	1461	51	2		2	RUNDC3A	17	42392622	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	107671	42392622	38802588	8863	13971										
ITGA2B	3674	hgsc.bcm.edu	37	chr17	42455126	42455126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaccctggtctcattctcCttcttctgattacagatgag	6	13	4	3	rs114232872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42455126C>T	ENST00000262407.5	-	21	2158	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K	ITGA2B_ENST00000353281.4_Silent_p.K709K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	709					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCTCATTCTCCTTCTTCTGAT	0.502													C|||	24	0.00479233	0.0159	0.0043	5008	,	,		14353	0.0		0.0	False		,,,				2504	0.0				p.K709K		Atlas-SNP	.											.	ITGA2B	88	.	0			c.G2127A						PASS	.	C		57,4349	54.9+/-90.9	0,57,2146	86	75	79		2127	0	1	17	dbSNP_132	79	0,8600		0,0,4300	no	coding-synonymous	ITGA2B	NM_000419.3		0,57,6446	TT,TC,CC		0.0,1.2937,0.4383		709/1040	42455126	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	3674	exon21			ATTCTCCTTCTTC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2127G>A	17.37:g.42455126C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	CCDS32665.1																																																																																			C|0.995;T|0.005	0.005	strong		0.502	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42455126	C	T	42455126	2	4	22	1	0	0	0	0	0	0	0	1	7876	680	24	2		2	ITGA2B	17	42455126	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62504	42455126	38740084	8864	13972										
ITGA2B	3674	hgsc.bcm.edu	37	chr17	42457087	42457087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatgggtgtctccatgcagCacgacagcaggggccattcc	12	13	1	0	rs79289329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42457087C>T	ENST00000262407.5	-	18	1879	c.1848G>A	c.(1846-1848)gtG>gtA	p.V616V	ITGA2B_ENST00000353281.4_Silent_p.V616V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	616					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTCCATGCAGCACGACAGCAG	0.607													C|||	26	0.00519169	0.0174	0.0043	5008	,	,		19396	0.0		0.0	False		,,,				2504	0.0				p.V616V		Atlas-SNP	.											.	ITGA2B	88	.	0			c.G1848A						PASS	.	C		70,4336	61.7+/-98.7	0,70,2133	109	106	107		1848	1.2	0.9	17	dbSNP_132	107	0,8600		0,0,4300	no	coding-synonymous	ITGA2B	NM_000419.3		0,70,6433	TT,TC,CC		0.0,1.5887,0.5382		616/1040	42457087	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	3674	exon18			ATGCAGCACGACA		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1848G>A	17.37:g.42457087C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	116	52	0.448276	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	CCDS32665.1																																																																																			C|0.994;T|0.006	0.006	strong		0.607	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42457087	C	T	42457087	2	4	22	1	0	0	0	0	0	0	0	1	7876	697	25	2		2	ITGA2B	17	42457087	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1961	42457087	38738123	8865	13973										
ITGA2B	3674	hgsc.bcm.edu	37	chr17	42457120	42457120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccattccagcctccgtgggCggtagggacacattgaggct	14	12	0	1	rs5912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42457120C>T	ENST00000262407.5	-	18	1846	c.1815G>A	c.(1813-1815)ccG>ccA	p.P605P	ITGA2B_ENST00000353281.4_Silent_p.P605P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	605					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCTCCGTGGGCGGTAGGGACA	0.617													C|||	59	0.0117812	0.0318	0.0159	5008	,	,		19144	0.0		0.006	False		,,,				2504	0.0				p.P605P		Atlas-SNP	.											ITGA2B,colon,carcinoma,-1,1	ITGA2B	88	1	0			c.G1815A						PASS	.	C		174,4232	111.6+/-149.8	4,166,2033	94	82	86		1815	-3.7	0	17	dbSNP_52	86	67,8533	39.8+/-96.3	0,67,4233	no	coding-synonymous	ITGA2B	NM_000419.3		4,233,6266	TT,TC,CC		0.7791,3.9492,1.853		605/1040	42457120	241,12765	2203	4300	6503	SO:0001819	synonymous_variant	3674	exon18			CGTGGGCGGTAGG		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1815G>A	17.37:g.42457120C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	100	52	0.52	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	CCDS32665.1																																																																																			C|0.982;T|0.018	0.018	strong		0.617	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42457120	C	T	42457120	2	4	22	1	0	0	0	0	0	0	0	1	7876	755	27	1		1	ITGA2B	17	42457120	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33	42457120	38738090	8866	13974										
GFAP	2670	hgsc.bcm.edu	37	chr17	42985453	42985453	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccatcccgcatctccacGgtcttcaccacgatgttcct	5	18	4	0	rs146298944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:42985453G>T	ENST00000253408.5	-	8	1301	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	GFAP_ENST00000588735.1_Silent_p.T38T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	412	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCATCTCCACGGTCTTCACCA	0.592													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0				p.T412T		Atlas-SNP	.											GFAP,colon,carcinoma,0,1	GFAP	88	1	0			c.C1236A						PASS	.	G		20,4386	27.2+/-55.0	0,20,2183	231	198	209		1236	-10.3	0.1	17	dbSNP_134	209	0,8600		0,0,4300	no	coding-synonymous	GFAP	NM_002055.4		0,20,6483	TT,TG,GG		0.0,0.4539,0.1538		412/433	42985453	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	2670	exon8			CTCCACGGTCTTC	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1236C>A	17.37:g.42985453G>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	149	70	0.469799	NM_002055	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	CCDS11491.1																																																																																			G|0.999;T|0.001	0.001	strong		0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		T	42985453	G	T	42985453	2	4	22	1	0	0	0	0	0	0	0	1	6337	1103	39	4		4	GFAP	17	42985453	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	528333	42985453	38209757	8867	13975										
KIF18B	146909	hgsc.bcm.edu	37	chr17	43010064	43010064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggtggtggtcccgacttGggagatcctgggaggtcctg	17	9	1	1	rs57250020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43010064G>A	ENST00000593135.1	-	9	1312	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	KIF18B_ENST00000590129.1_Silent_p.P414P|KIF18B_ENST00000339151.4_Silent_p.P405P|KIF18B_ENST00000438933.2_Silent_p.P405P|KIF18B_ENST00000587309.1_Silent_p.P405P	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	414	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTCCCGACTTGGGAGATCCTG	0.637													G|||	485	0.096845	0.2133	0.1037	5008	,	,		17275	0.0407		0.0278	False		,,,				2504	0.0634				p.P405P		Atlas-SNP	.											.	KIF18B	63	.	0			c.C1215T						PASS	.	G		647,3211		47,553,1329	107	121	116		1215	3.9	0.4	17	dbSNP_129	116	245,8003		10,225,3889	no	coding-synonymous	KIF18B	NM_001080443.1		57,778,5218	AA,AG,GG		2.9704,16.7703,7.3682		405/856	43010064	892,11214	1929	4124	6053	SO:0001819	synonymous_variant	146909	exon9			CGACTTGGGAGAT		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1215C>T	17.37:g.43010064G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	71	23	0.323944	NM_001264573	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	CCDS45709.2																																																																																			G|0.935;A|0.065	0.065	strong		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		A	43010064	G	A	43010064	2	1	22	1	0	0	0	0	0	0	0	1	8281	1335	47	2		2	KIF18B	17	43010064	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24611	43010064	38185146	8868	13976										
NMT1	4836	hgsc.bcm.edu	37	chr17	43171154	43171154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacctgggatgctttggacCtgggcgatcgtggtgtggtg	17	8	1	0	rs1132898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43171154C>T	ENST00000592782.1	+	5	618	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	NMT1_ENST00000258960.2_Silent_p.L163L|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	163					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TGCTTTGGACCTGGGCGATCG	0.592													C|||	997	0.199081	0.3616	0.134	5008	,	,		16891	0.0367		0.1769	False		,,,				2504	0.2157				p.L163L		Atlas-SNP	.											.	NMT1	31	.	0			c.C487T						PASS	.	C		1432,2974	464.5+/-353.9	247,938,1018	79	65	70		487	4.1	1	17	dbSNP_86	70	1747,6853	316.3+/-312.7	170,1407,2723	no	coding-synonymous	NMT1	NM_021079.3		417,2345,3741	TT,TC,CC		20.314,32.5011,24.4426		163/497	43171154	3179,9827	2203	4300	6503	SO:0001819	synonymous_variant	4836	exon4			TTGGACCTGGGCG		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.487C>T	17.37:g.43171154C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	110	52	0.472727	NM_021079	A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	CCDS11494.1																																																																																			C|0.785;G|0.000;T|0.215	0.215	strong		0.592	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		T	43171154	C	T	43171154	2	4	22	1	0	0	0	0	0	0	0	1	10503	680	24	2		2	NMT1	17	43171154	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	161090	43171154	38024056	8869	13977										
NMT1	4836	hgsc.bcm.edu	37	chr17	43181223	43181223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctagacctcatgagcgaCgcccttgtcctcgccaaaat	7	15	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567																																					p.D437D		Atlas-SNP	.											.	NMT1	31	.	0			c.C1311T						PASS	.						226	220	222					17																	43181223		2203	4300	6503	SO:0001819	synonymous_variant	4836	exon10			GAGCGACGCCCTT		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1311C>T	17.37:g.43181223C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	115	51	0.443478	NM_021079	A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	CCDS11494.1																																																																																			.	.	none		0.567	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		T	43181223	C	T	43181223	2	4	22	1	0	0	0	0	0	0	0	1	10503	535	19	1		1	NMT1	17	43181223	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10069	43181223	38013987	8870	13978										
HEXIM2	124790	hgsc.bcm.edu	37	chr17	43246456	43246456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttccctgcccctgacaccGcggatggagagccactcaga	12	15	1	3	rs34207107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43246456G>A	ENST00000307275.3	+	4	577	c.141G>A	c.(139-141)ccG>ccA	p.P47P	HEXIM2_ENST00000591576.1_Silent_p.P47P|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.P47P|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	47					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CCCTGACACCGCGGATGGAGA	0.642													G|||	209	0.0417332	0.143	0.0159	5008	,	,		15993	0.0		0.003	False		,,,				2504	0.0061				p.P47P		Atlas-SNP	.											.	HEXIM2	19	.	0			c.G141A						PASS	.	G		546,3860	240.6+/-251.3	31,484,1688	110	125	120		141	-7.9	0	17	dbSNP_126	120	32,8568	21.6+/-65.8	0,32,4268	no	coding-synonymous	HEXIM2	NM_144608.1		31,516,5956	AA,AG,GG		0.3721,12.3922,4.4441		47/287	43246456	578,12428	2203	4300	6503	SO:0001819	synonymous_variant	124790	exon4			GACACCGCGGATG	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.141G>A	17.37:g.43246456G>A		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_144608	D3DX66	Silent	SNP	ENST00000307275.3	37	CCDS11496.1																																																																																			G|0.962;A|0.038	0.038	strong		0.642	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		A	43246456	G	A	43246456	2	1	22	1	0	0	0	0	0	0	0	1	7077	1074	38	1		1	HEXIM2	17	43246456	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	65233	43246456	37948754	8871	13979										
PLEKHM1	9842	hgsc.bcm.edu	37	chr17	43552537	43552537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacaggacatgggctcctcGcaatggtctggactcttgga	12	11	3	0	rs71238846	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43552537G>A	ENST00000430334.3	-	4	985	c.852C>T	c.(850-852)tgC>tgT	p.C284C	PLEKHM1_ENST00000421073.2_Silent_p.C195C	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	284					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGGCTCCTCGCAATGGTCTG	0.572													G|||	412	0.0822684	0.0378	0.1556	5008	,	,		18814	0.001		0.1958	False		,,,				2504	0.0573				p.C284C		Atlas-SNP	.											.	PLEKHM1	69	.	0			c.C852T						PASS	.	G		281,4125	157.0+/-190.0	10,261,1932	50	47	48		852	0.9	0.5	17	dbSNP_130	48	1648,6952	303.6+/-306.5	155,1338,2807	no	coding-synonymous	PLEKHM1	NM_014798.2		165,1599,4739	AA,AG,GG		19.1628,6.3777,14.8316		284/1057	43552537	1929,11077	2203	4300	6503	SO:0001819	synonymous_variant	9842	exon4			CTCCTCGCAATGG	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.852C>T	17.37:g.43552537G>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	207	97	0.468599	NM_014798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																			G|0.865;A|0.135	0.135	strong		0.572	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		A	43552537	G	A	43552537	2	1	22	1	0	0	0	0	0	0	0	1	12080	1079	38	1		1	PLEKHM1	17	43552537	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	306081	43552537	37642673	8872	13980										
PLEKHM1	9842	hgsc.bcm.edu	37	chr17	43552717	43552717	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcagagcctgaagaatgGgaaatggaatccagagattc	11	7	2	4	rs147243132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43552717G>C	ENST00000430334.3	-	4	805	c.672C>G	c.(670-672)tcC>tcG	p.S224S	PLEKHM1_ENST00000421073.2_Silent_p.S135S	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	224					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTGAAGAATGGGAAATGGAAT	0.562													G|||	412	0.0822684	0.0378	0.1556	5008	,	,		21763	0.001		0.1958	False		,,,				2504	0.0573				p.S224S		Atlas-SNP	.											PLEKHM1,caecum,carcinoma,-1,1	PLEKHM1	69	1	0			c.C672G						PASS	.						25	23	24					17																	43552717		2202	4294	6496	SO:0001819	synonymous_variant	9842	exon4			AGAATGGGAAATG	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.672C>G	17.37:g.43552717G>C		Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	358	148	0.413408	NM_014798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																			G|0.873;C|0.127	0.127	strong		0.562	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		C	43552717	G	C	43552717	2	2	22	1	0	0	0	0	0	0	0	1	12080	1219	43	4		4	PLEKHM1	17	43552717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	180	43552717	37642493	8873	13981										
PLEKHM1	9842	hgsc.bcm.edu	37	chr17	43552921	43552921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactcgccctcctcagcatcCcggagcagggcggtgggctg	14	15	1	0	rs12452273	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43552921C>T	ENST00000430334.3	-	4	601	c.468G>A	c.(466-468)cgG>cgA	p.R156R	PLEKHM1_ENST00000421073.2_Silent_p.R67R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	156	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTCAGCATCCCGGAGCAGGG	0.602													C|||	412	0.0822684	0.0378	0.1556	5008	,	,		19188	0.001		0.1958	False		,,,				2504	0.0573				p.R156R		Atlas-SNP	.											.	PLEKHM1	69	.	0			c.G468A						PASS	.	C		276,4128	141.9+/-177.2	10,256,1936	43	42	42		468	-4.5	0.2	17	dbSNP_120	42	1606,6992	272.0+/-289.9	155,1296,2848	no	coding-synonymous	PLEKHM1	NM_014798.2		165,1552,4784	TT,TC,CC		18.6788,6.267,14.4747		156/1057	43552921	1882,11120	2202	4299	6501	SO:0001819	synonymous_variant	9842	exon4			AGCATCCCGGAGC	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.468G>A	17.37:g.43552921C>T		Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	266	122	0.458647	NM_014798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																			C|0.865;T|0.135	0.135	strong		0.602	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		T	43552921	C	T	43552921	2	4	22	1	0	0	0	0	0	0	0	1	12080	610	22	2		2	PLEKHM1	17	43552921	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	204	43552921	37642289	8874	13982										
PLEKHM1	9842	hgsc.bcm.edu	37	chr17	43552942	43552942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagcagggcggtgggctgGtagtactcatgcaagcgggc	19	9	1	0	rs71373588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43552942G>A	ENST00000430334.3	-	4	580	c.447C>T	c.(445-447)taC>taT	p.Y149Y	PLEKHM1_ENST00000421073.2_Silent_p.Y60Y	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	149	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGTGGGCTGGTAGTACTCAT	0.637													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.0				p.Y149Y		Atlas-SNP	.											.	PLEKHM1	69	.	0			c.C447T						PASS	.	G		76,4328	63.5+/-100.7	2,72,2128	41	39	40		447	-2.8	1	17	dbSNP_130	40	0,8600		0,0,4300	no	coding-synonymous	PLEKHM1	NM_014798.2		2,72,6428	AA,AG,GG		0.0,1.7257,0.5844		149/1057	43552942	76,12928	2202	4300	6502	SO:0001819	synonymous_variant	9842	exon4			GGGCTGGTAGTAC	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.447C>T	17.37:g.43552942G>A		Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	281	131	0.466192	NM_014798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																			G|0.993;A|0.007	0.007	strong		0.637	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		A	43552942	G	A	43552942	2	1	22	1	0	0	0	0	0	0	0	1	12080	1256	44	2		2	PLEKHM1	17	43552942	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21	43552942	37642268	8875	13983										
IMP5	162540	hgsc.bcm.edu	37	chr17	43922535	43922535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctcccccagccagcggcCcctccgccagaccactgcca	8	24	0	1	rs116482551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43922535C>T	ENST00000329196.5	+	1	280	c.263C>T	c.(262-264)cCc>cTc	p.P88L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	88	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										AGCCAGCGGCCCCTCCGCCAG	0.682													C|||	19	0.00379393	0.0144	0.0	5008	,	,		15160	0.0		0.0	False		,,,				2504	0.0				p.P88L		Atlas-SNP	.											.	.	.	.	0			c.C263T						PASS	.	C	LEU/PRO	68,4338	56.2+/-92.4	1,66,2136	25	26	26		263	4.8	0.6	17	dbSNP_132	26	0,8598		0,0,4299	yes	missense	IMP5	NM_175882.2	98	1,66,6435	TT,TC,CC		0.0,1.5433,0.5229	probably-damaging	88/685	43922535	68,12936	2203	4299	6502	SO:0001583	missense	162540	exon1			AGCGGCCCCTCCG		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.263C>T	17.37:g.43922535C>T	ENSP00000332488:p.Pro88Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	87	47	0.54023	NM_175882	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	CCDS32673.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	15.63	2.890707	0.52014	0.015433	0.0	ENSG00000185294	ENST00000329196	T	0.06068	3.35	4.8	4.8	0.61643	Protease-associated domain, PA (1);	0.000000	0.42172	D	0.000759	T	0.10637	0.0260	M	0.73217	2.22	0.58432	D	0.999998	D	0.69078	0.997	D	0.68943	0.961	T	0.00203	-1.1924	10	0.33940	T	0.23	-5.2725	13.2146	0.59851	0.0:1.0:0.0:0.0	.	88	Q8IUH8	IMP5_HUMAN	L	88	ENSP00000332488:P88L	ENSP00000332488:P88L	P	+	2	0	AC217771.1	41278315	0.895000	0.30542	0.640000	0.29408	0.454000	0.32378	2.391000	0.44424	2.481000	0.83766	0.650000	0.86243	CCC	C|0.995;T|0.005	0.005	strong		0.682	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		T	43922535	C	T	43922535	3	4	22	1	0	0	0	0	1	0	0	0	7721	623	22	2	265	2	IMP5	17	43922535	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	369593	43922535	37272675	8876	13984										
IMP5	162540	hgsc.bcm.edu	37	chr17	43922640	43922640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggctgctcatcgtgagccGggtcagtgaccaacagtgct	14	12	2	2	rs17763658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:43922640G>A	ENST00000329196.5	+	1	385	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	123	PA.		R -> Q (in dbSNP:rs17763658).			endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										ATCGTGAGCCGGGTCAGTGAC	0.637													G|||	454	0.090655	0.0734	0.0663	5008	,	,		17382	0.1181		0.0805	False		,,,				2504	0.1135				p.R123Q		Atlas-SNP	.											.	.	.	.	0			c.G368A						PASS	.	G	GLN/ARG	344,4062	178.0+/-206.8	15,314,1874	53	53	53		368	0.5	0.1	17	dbSNP_123	53	589,8011	155.8+/-209.8	23,543,3734	yes	missense	IMP5	NM_175882.2	43	38,857,5608	AA,AG,GG		6.8488,7.8075,7.1736	probably-damaging	123/685	43922640	933,12073	2203	4300	6503	SO:0001583	missense	162540	exon1			TGAGCCGGGTCAG		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.368G>A	17.37:g.43922640G>A	ENSP00000332488:p.Arg123Gln	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_175882	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	CCDS32673.1	191	0.08745421245421245	39	0.07926829268292683	29	0.08011049723756906	63	0.11013986013986014	60	0.079155672823219	G	8.681	0.905052	0.17760	0.078075	0.068488	ENSG00000185294	ENST00000329196	T	0.07688	3.17	4.64	0.472	0.16758	Protease-associated domain, PA (1);	0.368339	0.19781	N	0.106216	T	0.00241	0.0007	L	0.49350	1.555	0.26367	P	0.9769541	P	0.52842	0.956	P	0.51453	0.67	T	0.19943	-1.0290	9	0.37606	T	0.19	-3.1037	6.8244	0.23874	0.3859:0.0:0.6141:0.0	rs17763658;rs52794767;rs17763658	123	Q8IUH8	IMP5_HUMAN	Q	123	ENSP00000332488:R123Q	ENSP00000332488:R123Q	R	+	2	0	AC217771.1	41278420	1.000000	0.71417	0.141000	0.22245	0.005000	0.04900	1.345000	0.33953	-0.018000	0.14079	-0.808000	0.03180	CGG	G|0.922;A|0.078	0.078	strong		0.637	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		A	43922640	G	A	43922640	3	1	22	1	0	0	0	0	1	0	0	0	7721	1116	39	1	370	1	IMP5	17	43922640	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	105	43922640	37272570	8877	13985										
MAPT	4137	hgsc.bcm.edu	37	chr17	44061123	44061123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaggagcaggcgcactCggaggagcatttgggaaggg	19	7	0	1	rs73314997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:44061123C>T	ENST00000571987.1	+	5	953	c.953C>T	c.(952-954)tCg>tTg	p.S318L	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.S318L|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S318L|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S318L|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	318					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)	CAGGCGCACTCGGAGGAGCAT	0.637													C|||	277	0.0553115	0.2005	0.0144	5008	,	,		15384	0.0		0.002	False		,,,				2504	0.0				p.S318L		Atlas-SNP	.											MAPT,NS,carcinoma,-1,1	MAPT	135	1	0			c.C953T						PASS	.	C	LEU/SER,,,,,,LEU/SER,	759,3647	278.4+/-274.2	71,617,1515	35	41	39		953,,,,,,953,	4.4	0	17	dbSNP_130	39	13,8587	9.8+/-36.6	0,13,4287	yes	missense,intron,intron,intron,intron,intron,missense,intron	MAPT	NM_001123066.3,NM_001123067.3,NM_001203251.1,NM_001203252.1,NM_005910.5,NM_016834.4,NM_016835.4,NM_016841.4	145,,,,,,145,	71,630,5802	TT,TC,CC		0.1512,17.2265,5.9357	benign,,,,,,benign,	318/777,,,,,,318/759,	44061123	772,12234	2203	4300	6503	SO:0001583	missense	4137	exon6			CGCACTCGGAGGA	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.953C>T	17.37:g.44061123C>T	ENSP00000458742:p.Ser318Leu	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_001123066	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	106	0.048534798534798536	97	0.19715447154471544	7	0.019337016574585635	0	0.0	2	0.002638522427440633	C	14.68	2.608431	0.46527	0.172265	0.001512	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.13657	2.6;2.57;2.6	4.38	4.38	0.52667	.	0.538008	0.14116	N	0.340390	T	0.00012	0.0000	L	0.47716	1.5	0.21355	P	0.999712994	B;B	0.29766	0.229;0.256	B;B	0.26202	0.052;0.067	T	0.24693	-1.0153	9	0.37606	T	0.19	0.1936	12.6117	0.56554	0.0:1.0:0.0:0.0	.	318;318	P10636-9;P10636	.;TAU_HUMAN	L	318	ENSP00000340820:S318L;ENSP00000262410:S318L;ENSP00000410838:S318L	ENSP00000262410:S318L	S	+	2	0	MAPT	41416960	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	1.349000	0.33998	2.440000	0.82611	0.561000	0.74099	TCG	C|0.655;A|0.015	.	strong		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		T	44061123	C	T	44061123	3	4	22	1	0	0	0	0	1	0	0	0	9297	893	31	1	971	1	MAPT	17	44061123	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138483	44061123	37134087	8878	13986										
STH	246744	hgsc.bcm.edu	37	chr17	44076711	44076711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaagactgtgcaggtggccGgccctcattgaatgcggggt	15	10	1	2	rs73317018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:44076711G>A	ENST00000537309.1	+	1	96	c.66G>A	c.(64-66)ccG>ccA	p.P22P	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	22						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						gcaggtggccggccctcattg	0.537													G|||	178	0.0355431	0.1271	0.0144	5008	,	,		18789	0.0		0.0	False		,,,				2504	0.0				p.P22P		Atlas-SNP	.											.	STH	14	.	0			c.G66A						PASS	.	G	,,,,,,,,	452,3442		19,414,1514	66	65	65		66,,,,,,,,	-2.5	0	17	dbSNP_132	65	1,8263		0,1,4131	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron	MAPT,STH	NM_001007532.2,NM_001123066.3,NM_001123067.3,NM_001203251.1,NM_001203252.1,NM_005910.5,NM_016834.4,NM_016835.4,NM_016841.4	,,,,,,,,	19,415,5645	AA,AG,GG		0.0121,11.6076,3.7259	,,,,,,,,	22/129,,,,,,,,	44076711	453,11705	1947	4132	6079	SO:0001819	synonymous_variant	246744	exon1			GTGGCCGGCCCTC	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"microtubule-associated protein tau (MAPT) intronic transcript"	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.66G>A	17.37:g.44076711G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	180	90	0.5	NM_001007532	A1L3X7	Silent	SNP	ENST00000537309.1	37	CCDS54136.1																																																																																			A|0.027;C|0.000;G|0.972;T|0.000	0.027	strong		0.537	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			A	44076711	G	A	44076711	2	1	22	1	0	0	0	0	0	0	0	1	15280	1103	39	1		1	STH	17	44076711	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15588	44076711	37118499	8879	13987										
LRRC37A	9884	hgsc.bcm.edu	37	chr17	44373384	44373386	+	In_Frame_Del	DEL	CAA	CAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcttattatcacttgccCaacattacagttaaacctgc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:44373384_44373386delCAA	ENST00000320254.5	+	1	888_890	c.885_887delCAA	c.(883-888)cccaac>ccc	p.N296del	LRRC37A_ENST00000496930.1_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_In_Frame_Del_p.N296del	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	296						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATCACTTGCCCAACATTACAGTT	0.473																																					p.295_296del		Atlas-Indel	.											.	LRRC37A	19	.	0			c.884_886del						PASS	.																																			SO:0001651	inframe_deletion	9884	exon1			.	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.885_887delCAA	17.37:g.44373384_44373386delCAA	ENSP00000326324:p.Asn296del	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	305	21	0.0688525	NM_014834	Q68DY2|Q8IWC7	In_Frame_Del	DEL	ENST00000320254.5	37	CCDS11504.2																																																																																			.	.	none		0.473	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		-	44373386	CAA	-	44373384	7	5	22	1	0	1	0	1	0	0	0	0	8991	581	21	0	887	0	LRRC37A	17	44373384	In_Frame_Del	DEL	CAA	TCGA-G8-6324-01A-11D-2210-10	296673	44373384	36821826	8880	13988										
LRRC37A2	474170	hgsc.bcm.edu	37	chr17	44590963	44590965	+	In_Frame_Del	DEL	CAA	CAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcttattatcacttgccCaacattacagttaaacctgc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:44590963_44590965delCAA	ENST00000576629.1	+	2	1380_1382	c.885_887delCAA	c.(883-888)cccaac>ccc	p.N296del	LRRC37A2_ENST00000333412.3_In_Frame_Del_p.N296del			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	296						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATCACTTGCCCAACATTACAGTT	0.473																																					p.295_296del		Atlas-Indel	.											.	LRRC37A2	37	.	0			c.884_886del						PASS	.																																			SO:0001651	inframe_deletion	474170	exon1			.	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.885_887delCAA	17.37:g.44590963_44590965delCAA	ENSP00000459551:p.Asn296del	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	305	20	0.0655738	NM_001006607	B7ZMC3	In_Frame_Del	DEL	ENST00000576629.1	37	CCDS42353.1																																																																																			.	.	none		0.473	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		-	44590965	CAA	-	44590963	7	5	22	1	0	1	0	1	0	0	0	0	8992	581	21	0	887	0	LRRC37A2	17	44590963	In_Frame_Del	DEL	CAA	TCGA-G8-6324-01A-11D-2210-10	217579	44590963	36604247	8881	13989										
CDC27	996	hgsc.bcm.edu	37	chr17	45214527	45214527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaccacttaccatgcattaTaatgtctaggattgactctg	6	9	2	1	rs62075618|rs200720095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45214527T>C	ENST00000066544.3	-	14	1997	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	CDC27_ENST00000446365.2_Missense_Mutation_p.Y574C|CDC27_ENST00000527547.1_Missense_Mutation_p.Y634C|CDC27_ENST00000531206.1_Missense_Mutation_p.Y641C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	635					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCATTATAATGTCTAGG	0.338																																					p.Y641C		Atlas-SNP	.											CDC27_ENST00000531206,colon,carcinoma,-1,2	CDC27	337	2	0			c.A1922G						scavenged	.						35	35	35					17																	45214527		2203	4300	6503	SO:0001583	missense	996	exon14			GCATTATAATGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1904A>G	17.37:g.45214527T>C	ENSP00000066544:p.Tyr635Cys	Somatic	26	2	0.0769231		WXS	Illumina HiSeq	Phase_I	34	6	0.176471	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004463	0.93287	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	H	0.96943	3.91	0.09310	P	0.999999999633698	D;D;D;D	0.59357	0.985;0.982;0.982;0.969	P;P;P;P	0.56042	0.79;0.753;0.753;0.727	D	0.88807	0.3289	9	0.87932	D	0	-24.5847	14.4087	0.67101	0.0:0.0:0.0:1.0	rs62075618	574;634;641;635	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	635;641;574;634	ENSP00000066544:Y635C;ENSP00000434614:Y641C;ENSP00000392802:Y574C;ENSP00000437339:Y634C	ENSP00000066544:Y635C	Y	-	2	0	CDC27	42569526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.308000	0.72820	2.293000	0.77203	0.477000	0.44152	TAT	T|0.500;C|0.500	0.500	strong		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45214527	T	C	45214527	3	2	22	1	0	0	0	0	1	0	0	0	3066	1406	49	2	594	2	CDC27	17	45214527	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	623564	45214527	35980683	8882	13990										
CDC27	996	hgsc.bcm.edu	37	chr17	45234411	45234411	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatcaggtgaaattacagctGaatcaatataagacactgag	8	6	2	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45234411G>T	ENST00000066544.3	-	7	803	c.710C>A	c.(709-711)tCa>tAa	p.S237*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.S176*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.S237*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.S237*|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	237					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTACAGCTGAATCAATATA	0.338																																					p.S237X		Atlas-SNP	.											CDC27_ENST00000531206,caecum,carcinoma,0,2	CDC27	337	2	0			c.C710A						scavenged	.						39	44	42					17																	45234411		2188	4290	6478	SO:0001587	stop_gained	996	exon7			ACAGCTGAATCAA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.710C>A	17.37:g.45234411G>T	ENSP00000066544:p.Ser237*	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	47	5	0.106383	NM_001114091	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028766	0.75504	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.44	5.44	0.79542	.	0.068298	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6807	16.7505	0.85484	0.0:0.0:1.0:0.0	.	.	.	.	X	237;237;176;237;237	.	ENSP00000066544:S237X	S	-	2	0	CDC27	42589410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.255000	0.95524	2.555000	0.86185	0.460000	0.39030	TCA	.	.	none		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234411	G	T	45234411	4	4	22	1	0	0	0	0	0	1	0	0	3066	1294	45	4	1834	4	CDC27	17	45234411	Nonsense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19884	45234411	35960799	8883	13991										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000531206.1_Missense_Mutation_p.T167S|CDC27_ENST00000527547.1_Missense_Mutation_p.T167S|CDC27_ENST00000446365.2_Missense_Mutation_p.T106S|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	191	5	0.026178		WXS	Illumina HiSeq	Phase_I	164	6	0.0365854	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	22	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	316	45234727	35960483	8884	13992										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45360730	45360730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcttacaggccctgcctcTgggctcacctcgctgtgacc	10	16	3	1	rs5918	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45360730T>C	ENST00000559488.1	+	3	192	c.176T>C	c.(175-177)cTg>cCg	p.L59P	ITGB3_ENST00000571680.1_Missense_Mutation_p.L59P|ITGB3_ENST00000435993.2_Missense_Mutation_p.L12P|ITGB3_ENST00000560629.1_Silent_p.S47S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	59			L -> P (in alloantigen HPA-1B; dbSNP:rs5918). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:2565345, ECO:0000269|Ref.13}.		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)	GCCCTGCCTCTGGGCTCACCT	0.552													T|||	445	0.0888578	0.0915	0.1023	5008	,	,		19719	0.0089		0.1322	False		,,,				2504	0.1135				p.L59P		Atlas-SNP	.											.	ITGB3	157	.	0			c.T176C	GRCh37	CM890078	ITGB3	M	rs5918	PASS	.	T	PRO/LEU	470,3936	224.6+/-240.7	28,414,1761	61	55	57	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	176	-11.8	0	17	dbSNP_52	57	1305,7295	257.6+/-281.6	89,1127,3084	yes	missense	ITGB3	NM_000212.2	98	117,1541,4845	CC,CT,TT		15.1744,10.6673,13.6475	benign	59/789	45360730	1775,11231	2203	4300	6503	SO:0001583	missense	3690	exon3			TGCCTCTGGGCTC		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.176T>C	17.37:g.45360730T>C	ENSP00000452786:p.Leu59Pro	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	200	0.09157509157509157	59	0.11991869918699187	35	0.09668508287292818	5	0.008741258741258742	101	0.13324538258575197	T	6.670	0.492238	0.12702	0.106673	0.151744	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92446	-3.04	5.88	-11.8	0.00035	Integrin beta subunit, N-terminal (2);	1.063610	0.07337	N	0.880144	T	0.02193	0.0068	L	0.43152	1.355	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.10450	0.005	T	0.48490	-0.9031	9	0.20519	T	0.43	.	9.9068	0.41381	0.1749:0.5694:0.1433:0.1124	rs5918;rs5918	59	P05106	ITB3_HUMAN	P	59;12	ENSP00000407801:L12P	ENSP00000262017:L59P	L	+	2	0	C17orf57	42715729	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.382000	0.02546	-3.995000	0.00083	-1.117000	0.02048	CTG	T|0.884;C|0.116	0.116	strong		0.552	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		C	45360730	T	C	45360730	3	2	22	1	0	0	0	0	1	0	0	0	7895	1580	55	3	186	3	ITGB3	17	45360730	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	126003	45360730	35834480	8885	13993										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45368337	45368337	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaaatccgttctaaagtAgagctggaagtgcgtgacct	11	8	1	3	rs15908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45368337A>C	ENST00000559488.1	+	9	1159	c.1143A>C	c.(1141-1143)gtA>gtC	p.V381V	ITGB3_ENST00000560629.1_Silent_p.R370R|ITGB3_ENST00000435993.2_Silent_p.V334V|ITGB3_ENST00000571680.1_Silent_p.V381V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	381					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)	GTTCTAAAGTAGAGCTGGAAG	0.488													C|||	2159	0.43111	0.4115	0.3602	5008	,	,		21527	0.5476		0.3678	False		,,,				2504	0.453				p.V381V		Atlas-SNP	.											.	ITGB3	157	.	0			c.A1143C						PASS	.	C		1856,2550	634.1+/-396.1	387,1082,734	138	124	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1143	-11	0.1	17	dbSNP_52	128	3152,5448	655.4+/-401.3	557,2038,1705	no	coding-synonymous	ITGB3	NM_000212.2		944,3120,2439	CC,CA,AA		36.6512,42.1244,38.5053		381/789	45368337	5008,7998	2203	4300	6503	SO:0001819	synonymous_variant	3690	exon9			TAAAGTAGAGCTG		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.1143A>C	17.37:g.45368337A>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	90	38	0.422222	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	CCDS11511.1																																																																																			A|0.586;C|0.414	0.414	strong		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		C	45368337	A	C	45368337	2	2	22	1	0	0	0	0	0	0	0	1	7895	407	15	5		5	ITGB3	17	45368337	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7607	45368337	35826873	8886	13994										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45369777	45369777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcccttcccagcaggacgaAtgcagcccccgggagggtca	13	16	1	0	rs4642	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45369777A>G	ENST00000559488.1	+	10	1549	c.1533A>G	c.(1531-1533)gaA>gaG	p.E511E	ITGB3_ENST00000435993.2_Silent_p.E464E|ITGB3_ENST00000560629.1_Missense_Mutation_p.M500V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	511	Cysteine-rich tandem repeats.				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)	AGCAGGACGAATGCAGCCCCC	0.627													G|||	1439	0.28734	0.2564	0.268	5008	,	,		17283	0.3313		0.2903	False		,,,				2504	0.2945				p.E511E		Atlas-SNP	.											ITGB3_ENST00000435993,colon,carcinoma,0,2	ITGB3	157	2	0			c.A1533G						PASS	.	G		1187,3219	710.8+/-407.9	156,875,1172	87	77	81		1533	5.4	1	17	dbSNP_52	81	2506,6094	694.2+/-404.7	356,1794,2150	no	coding-synonymous	ITGB3	NM_000212.2		512,2669,3322	GG,GA,AA		29.1395,26.9405,28.3946		511/789	45369777	3693,9313	2203	4300	6503	SO:0001819	synonymous_variant	3690	exon10			GGACGAATGCAGC		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.1533A>G	17.37:g.45369777A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	87	46	0.528736	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	CCDS11511.1																																																																																			A|0.710;G|0.290	0.290	strong		0.627	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		G	45369777	A	G	45369777	2	3	22	1	0	0	0	0	0	0	0	1	7895	98	4	2		2	ITGB3	17	45369777	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1440	45369777	35825433	8887	13995										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45369789	45369789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggacgaatgcagcccccgGgagggtcagcccgtctgcag	15	14	2	0	rs4634|rs397843979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45369789G>A	ENST00000559488.1	+	10	1561	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	ITGB3_ENST00000560629.1_Missense_Mutation_p.G504R|ITGB3_ENST00000435993.2_Silent_p.R468R	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	515	Cysteine-rich tandem repeats.		R -> Q (in alloantigen CA(+)/TU(+); dbSNP:rs13306487). {ECO:0000269|PubMed:7694683}.		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)	GCAGCCCCCGGGAGGGTCAGC	0.627													G|||	1439	0.28734	0.2564	0.268	5008	,	,		17711	0.3313		0.2903	False		,,,				2504	0.2945				p.R515R		Atlas-SNP	.											ITGB3_ENST00000435993,colon,carcinoma,0,2	ITGB3	157	2	0			c.G1545A						PASS	.	G		1187,3219	415.0+/-337.0	156,875,1172	79	73	75		1545	2	1	17	dbSNP_52	75	2505,6095	410.5+/-350.2	355,1795,2150	no	coding-synonymous	ITGB3	NM_000212.2		511,2670,3322	AA,AG,GG		29.1279,26.9405,28.3869		515/789	45369789	3692,9314	2203	4300	6503	SO:0001819	synonymous_variant	3690	exon10			CCCCCGGGAGGGT		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.1545G>A	17.37:g.45369789G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	77	42	0.545455	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	CCDS11511.1																																																																																			G|0.717;A|0.283	0.283	strong		0.627	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		A	45369789	G	A	45369789	2	1	22	1	0	0	0	0	0	0	0	1	7895	1219	43	2		2	ITGB3	17	45369789	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	45369789	35825421	8888	13996										
C17orf57	124989	hgsc.bcm.edu	37	chr17	45471443	45471443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatactatgatgagcaacacGgaatgcttctctgaaaaatt	8	7	1	3	rs7217678	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45471443G>A	ENST00000331493.2	+	16	2190	c.1779G>A	c.(1777-1779)acG>acA	p.T593T	EFCAB13_ENST00000517484.1_Silent_p.T497T	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	593						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TGAGCAACACGGAATGCTTCT	0.299													g|||	87	0.0173722	0.0628	0.0029	5008	,	,		14107	0.0		0.002	False		,,,				2504	0.0				p.T593T		Atlas-SNP	.											C17orf57,NS,carcinoma,+1,1	.	.	1	0			c.G1779A						PASS	.	G	,	238,4168	138.0+/-173.8	7,224,1972	106	119	114		1491,1779	-2.9	0.2	17	dbSNP_116	114	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	C17orf57	NM_001195192.1,NM_152347.4	,	7,228,6268	AA,AG,GG		0.0465,5.4017,1.8607	,	497/785,593/974	45471443	242,12764	2203	4300	6503	SO:0001819	synonymous_variant	124989	exon16			CAACACGGAATGC	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1779G>A	17.37:g.45471443G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	159	68	0.427673	NM_152347	G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	CCDS11512.1																																																																																			G|0.977;A|0.023	0.023	strong		0.299	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		A	45471443	G	A	45471443	2	1	22	1	0	0	0	0	0	0	0	1	1865	1103	39	1		1	C17orf57	17	45471443	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101654	45471443	35723767	8889	13997										
OSBPL7	114881	hgsc.bcm.edu	37	chr17	45885756	45885756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactctttcccgctgctatcCgtctgccgcctggtgggaga	11	15	2	1	rs9911983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45885756C>T	ENST00000007414.3	-	23	2621	c.2430G>A	c.(2428-2430)acG>acA	p.T810T	OSBPL7_ENST00000392507.3_Silent_p.T810T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	810					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTGCTATCCGTCTGCCGCC	0.627													T|||	2374	0.474042	0.7005	0.4352	5008	,	,		19535	0.1528		0.5298	False		,,,				2504	0.4693				p.T810T		Atlas-SNP	.											OSBPL7,colon,carcinoma,-1,1	OSBPL7	65	1	0			c.G2430A						PASS	.	T		3093,1313	444.5+/-347.4	1094,905,204	61	56	58		2430	-8.4	0.8	17	dbSNP_119	58	4785,3815	538.2+/-383.4	1362,2061,877	no	coding-synonymous	OSBPL7	NM_145798.2		2456,2966,1081	TT,TC,CC		44.3605,29.8003,39.428		810/843	45885756	7878,5128	2203	4300	6503	SO:0001819	synonymous_variant	114881	exon23			GCTATCCGTCTGC	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2430G>A	17.37:g.45885756C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_145798	D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																			C|0.449;T|0.551	0.551	strong		0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		T	45885756	C	T	45885756	2	4	22	1	0	0	0	0	0	0	0	1	11282	639	23	1		1	OSBPL7	17	45885756	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	414313	45885756	35309454	8890	13998										
LRRC46	90506	hgsc.bcm.edu	37	chr17	45914125	45914136	+	In_Frame_Del	DEL	AGGAGCTGGAGC	AGGAGCTGGAGC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccctcccaggcttcctcaAggagctggagcaggagctga					rs142960476|rs377191761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AGGAGCTGGAGC	AGGAGCTGGAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:45914125_45914136delAGGAGCTGGAGC	ENST00000269025.4	+	8	968_979	c.605_616delAGGAGCTGGAGC	c.(604-618)aaggagctggagcag>aag	p.ELEQ203del		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	203										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGCTTCCTCAAGGAGCTGGAGCAGGAGCTGAG	0.684														156	0.0311502	0.1104	0.013	5008	,	,		19410	0.0		0.0	False		,,,				2504	0.001				p.202_205del		Pindel,Atlas-Indel	.											.	LRRC46	25	.	0			c.604_615del						PASS	.			383,3877		24,335,1771						-3.3	0.8		dbSNP_134	24	7,8231		1,5,4113	no	coding	LRRC46	NM_033413.3		25,340,5884	A1A1,A1R,RR		0.085,8.9906,3.1205				390,12108				SO:0001651	inframe_deletion	90506	exon8			.		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.605_616delAGGAGCTGGAGC	17.37:g.45914125_45914136delAGGAGCTGGAGC	ENSP00000269025:p.Glu203_Gln206del	Somatic	184	.	.		WXS	Illumina HiSeq	Phase_I	131	35	0.267	NM_033413	A8K9Q0	In_Frame_Del	DEL	ENST00000269025.4	37	CCDS11518.1																																																																																			AGGAGCTGGAGC|0.978;-|0.022	0.022	strong		0.684	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		-	45914136	AGGAGCTGGAGC	-	45914125	7	5	22	1	0	1	0	1	0	0	0	0	9003	72	3	0	635	0	LRRC46	17	45914125	In_Frame_Del	DEL	AGGAGCTGGAGC	TCGA-G8-6324-01A-11D-2210-10	28369	45914125	35281085	8891	13999										
PNPO	55163	hgsc.bcm.edu	37	chr17	46023295	46023295	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctacttccactcccgcccCaagagcagccagattggggc	10	16	0	2	rs35974730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:46023295C>G	ENST00000225573.4	+	5	591	c.486C>G	c.(484-486)ccC>ccG	p.P162P	PNPO_ENST00000434554.2_Intron|PNPO_ENST00000544840.1_Silent_p.P144P|RP11-6N17.6_ENST00000582142.1_RNA|PNPO_ENST00000534893.1_Silent_p.P67P|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000580372.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	162					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						ACTCCCGCCCCAAGAGCAGCC	0.607													C|||	93	0.0185703	0.0681	0.0029	5008	,	,		19973	0.0		0.001	False		,,,				2504	0.0				p.P162P		Atlas-SNP	.											.	PNPO	18	.	0			c.C486G						PASS	.	C		274,4132	155.9+/-189.0	10,254,1939	70	69	69		486	2.1	1	17	dbSNP_126	69	14,8586	9.1+/-34.3	0,14,4286	yes	coding-synonymous	PNPO	NM_018129.3		10,268,6225	GG,GC,CC		0.1628,6.2188,2.2144		162/262	46023295	288,12718	2203	4300	6503	SO:0001819	synonymous_variant	55163	exon5			CCGCCCCAAGAGC	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.486C>G	17.37:g.46023295C>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	54	30	0.555556	NM_018129	B4E0V0|B4E152|B4E1D7|D3DTT9	Silent	SNP	ENST00000225573.4	37	CCDS11522.1																																																																																			C|0.980;G|0.020	0.020	strong		0.607	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		G	46023295	C	G	46023295	2	3	22	1	0	0	0	0	0	0	0	1	12172	581	21	4		4	PNPO	17	46023295	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109170	46023295	35171915	8892	14000										
HOXB8	3218	hgsc.bcm.edu	37	chr17	46690623	46690623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcctctggggcccgctccaGcttctgtttctccagctcct	9	18	3	0	rs112046402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:46690623G>C	ENST00000239144.4	-	2	907	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	HOXB7_ENST00000239165.7_5'Flank|HOXB8_ENST00000576562.1_Missense_Mutation_p.L224V|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	225					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCCCGCTCCAGCTTCTGTTTC	0.612													G|||	155	0.0309505	0.1142	0.0058	5008	,	,		8098	0.0		0.0	False		,,,				2504	0.0				p.L225V		Atlas-SNP	.											.	HOXB8	26	.	0			c.C673G						PASS	.	G	VAL/LEU	341,4065	176.2+/-205.4	7,327,1869	81	83	83		673	1.9	1	17	dbSNP_132	83	1,8599		0,1,4299	yes	missense	HOXB8	NM_024016.3	32	7,328,6168	CC,CG,GG		0.0116,7.7394,2.6296	benign	225/244	46690623	342,12664	2203	4300	6503	SO:0001583	missense	3218	exon2			GCTCCAGCTTCTG		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.673C>G	17.37:g.46690623G>C	ENSP00000239144:p.Leu225Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_024016	Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	CCDS11533.1	46	0.021062271062271064	44	0.08943089430894309	2	0.0055248618784530384	0	0.0	0	0.0	G	7.810	0.715510	0.15306	0.077394	1.16E-4	ENSG00000120068	ENST00000239144	D	0.90324	-2.65	3.04	1.94	0.25998	.	0.473524	0.13687	U	0.369761	T	0.15046	0.0363	N	0.14661	0.345	0.25211	N	0.989973	B	0.12013	0.005	B	0.12156	0.007	T	0.43956	-0.9359	10	0.29301	T	0.29	.	8.2888	0.31946	0.0:0.0:0.4932:0.5068	.	225	P17481	HXB8_HUMAN	V	225	ENSP00000239144:L225V	ENSP00000239144:L225V	L	-	1	2	HOXB8	44045622	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.900000	0.48687	1.734000	0.51633	0.479000	0.44913	CTG	G|0.977;C|0.023	0.023	strong		0.612	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			C	46690623	G	C	46690623	3	2	22	1	0	0	0	0	1	0	0	0	7307	962	34	4	62	4	HOXB8	17	46690623	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	667328	46690623	34504587	8893	14001										
TTLL6	284076	hgsc.bcm.edu	37	chr17	46894377	46894377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgctgggctgctagtccAgcttgcaaccacacctgccg	10	18	0	0	rs3959442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:46894377A>C	ENST00000393382.3	-	1	199	c.58T>G	c.(58-60)Tgg>Ggg	p.W20G	TTLL6_ENST00000470462.2_5'UTR	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGCTAGTCCAGCTTGCAACC	0.667													A|||	1360	0.271565	0.3434	0.4063	5008	,	,		12670	0.1875		0.2664	False		,,,				2504	0.1708				p.W20G		Atlas-SNP	.											.	TTLL6	113	.	0			c.T58G						PASS	.	A	GLY/TRP	456,928		79,298,315	40	51	48		58	-0.6	0	17	dbSNP_108	48	862,2320		120,622,849	yes	missense	TTLL6	NM_001130918.1	184	199,920,1164	CC,CA,AA		27.0899,32.948,28.8655		20/892	46894377	1318,3248	692	1591	2283	SO:0001583	missense	284076	exon1			TAGTCCAGCTTGC	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.58T>G	17.37:g.46894377A>C	ENSP00000377043:p.Trp20Gly	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	25	9	0.36	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	606	0.2774725274725275	163	0.3313008130081301	145	0.4005524861878453	95	0.1660839160839161	203	0.2678100263852243	A	0.930	-0.713124	0.03206	0.32948	0.270899	ENSG00000170703	ENST00000440941;ENST00000418322	.	.	.	4.19	-0.634	0.11516	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.47509	-0.9112	5	0.29301	T	0.29	.	5.1484	0.14996	0.5233:0.3665:0.0:0.1101	rs3959442	.	.	.	G	20;22	.	ENSP00000403514:W22G	W	-	1	0	TTLL6	44249376	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.112000	0.10791	-0.138000	0.11434	-0.294000	0.09567	TGG	T|0.000;G|0.000;C|0.278;A|0.721	0.278	strong		0.667	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		C	46894377	A	C	46894377	3	2	22	1	0	0	0	0	1	0	0	0	16728	188	7	5	2758	5	TTLL6	17	46894377	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	203754	46894377	34300833	8894	14002										
B4GALNT2	124872	hgsc.bcm.edu	37	chr17	47246979	47246979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccagtggtggactcagaActggctgccctagagaagac	12	11	2	3	rs16946912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:47246979A>G	ENST00000300404.2	+	11	1649	c.1590A>G	c.(1588-1590)gaA>gaG	p.E530E	B4GALNT2_ENST00000393354.2_Silent_p.E470E|B4GALNT2_ENST00000504681.1_Silent_p.E444E|RP11-708H21.4_ENST00000575159.1_lincRNA	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	530					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGACTCAGAACTGGCTGCCC	0.527													G|||	611	0.122005	0.1641	0.0749	5008	,	,		20337	0.0218		0.1193	False		,,,				2504	0.2045				p.E530E	GBM(124;244 1635 8663 18097 33175)	Atlas-SNP	.											.	B4GALNT2	67	.	0			c.A1590G						PASS	.	G	,,	597,3809	771.2+/-413.8	34,529,1640	97	89	92		1410,1332,1590	0.9	0	17	dbSNP_123	92	904,7696	778.2+/-407.7	49,806,3445	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	83,1335,5085	GG,GA,AA		10.5116,13.5497,11.5408	,,	470/507,444/481,530/567	47246979	1501,11505	2203	4300	6503	SO:0001819	synonymous_variant	124872	exon11			CTCAGAACTGGCT	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1590A>G	17.37:g.47246979A>G		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	26	8	0.307692	NM_153446	B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	CCDS11544.1																																																																																			A|0.888;G|0.112	0.112	strong		0.527	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		G	47246979	A	G	47246979	2	3	22	1	0	0	0	0	0	0	0	1	1267	40	2	2		2	B4GALNT2	17	47246979	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	352602	47246979	33948231	8895	14003										
ABI3	51225	hgsc.bcm.edu	37	chr17	47295165	47295165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccttagccactgtccagcGgctgccccccggccagaagg	11	18	0	1	rs137924898	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:47295165G>A	ENST00000225941.1	+	3	848	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	ABI3_ENST00000419580.2_Missense_Mutation_p.R111Q	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	117					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			ACTGTCCAGCGGCTGCCCCCC	0.612										HNSCC(55;0.14)			G|||	11	0.00219649	0.0083	0.0	5008	,	,		13980	0.0		0.0	False		,,,				2504	0.0				p.R117Q		Atlas-SNP	.											.	ABI3	35	.	0			c.G350A						PASS	.	G	GLN/ARG,GLN/ARG	46,4360	47.5+/-82.1	0,46,2157	95	94	94		332,350	2.8	1	17	dbSNP_134	94	1,8599		0,1,4299	yes	missense,missense	ABI3	NM_001135186.1,NM_016428.2	43,43	0,47,6456	AA,AG,GG		0.0116,1.044,0.3614	possibly-damaging,possibly-damaging	111/361,117/367	47295165	47,12959	2203	4300	6503	SO:0001583	missense	51225	exon3			TCCAGCGGCTGCC	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.350G>A	17.37:g.47295165G>A	ENSP00000225941:p.Arg117Gln	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	59	28	0.474576	NM_016428	C9IZN8|Q9H0P6	Missense_Mutation	SNP	ENST00000225941.1	37	CCDS11546.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	12.92	2.082944	0.36758	0.01044	1.16E-4	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.09911	2.93;2.97	4.92	2.85	0.33270	Abl-interactor, homeo-domain homologous domain (1);	0.258373	0.28219	N	0.016153	T	0.06325	0.0163	L	0.45581	1.43	0.43390	D	0.995501	B;B	0.11235	0.003;0.004	B;B	0.12837	0.005;0.008	T	0.16276	-1.0408	10	0.39692	T	0.17	-17.6666	5.5446	0.17057	0.1921:0.1608:0.6471:0.0	.	111;117	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	Q	117;111	ENSP00000225941:R117Q;ENSP00000406651:R111Q	ENSP00000225941:R117Q	R	+	2	0	ABI3	44650164	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.567000	0.36407	0.604000	0.29930	0.555000	0.69702	CGG	G|0.997;A|0.003	0.003	strong		0.612	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		A	47295165	G	A	47295165	3	1	22	1	0	0	0	0	1	0	0	0	90	1116	39	1	360	1	ABI3	17	47295165	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48186	47295165	33900045	8896	14004										
FAM117A	81558	hgsc.bcm.edu	37	chr17	47788755	47788755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggctggccgggggaagGggagatcccgggtttgaggg	23	7	0	2	rs34759387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:47788755G>A	ENST00000240364.2	-	8	1303	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	FAM117A_ENST00000513602.1_Silent_p.P136P|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	408	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CCGGGGGAAGGGGAGATCCCG	0.657													G|||	330	0.0658946	0.0726	0.1037	5008	,	,		16378	0.0456		0.0606	False		,,,				2504	0.0562				p.P408P		Atlas-SNP	.											.	FAM117A	45	.	0			c.C1224T						PASS	.	G		265,4141	148.0+/-182.4	7,251,1945	31	35	34		1224	-7.4	0	17	dbSNP_126	34	349,8251	116.1+/-175.8	5,339,3956	no	coding-synonymous	FAM117A	NM_030802.3		12,590,5901	AA,AG,GG		4.0581,6.0145,4.7209		408/454	47788755	614,12392	2203	4300	6503	SO:0001819	synonymous_variant	81558	exon8			GGGAAGGGGAGAT	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1224C>T	17.37:g.47788755G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	50	18	0.36	NM_030802	B7Z7Q3	Silent	SNP	ENST00000240364.2	37	CCDS11553.1																																																																																			G|0.946;A|0.054	0.054	strong		0.657	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		A	47788755	G	A	47788755	2	1	22	1	0	0	0	0	0	0	0	1	5409	1219	43	2		2	FAM117A	17	47788755	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	493590	47788755	33406455	8897	14005										
MYST2	11143	hgsc.bcm.edu	37	chr17	47895271	47895271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgagcttgatacctggtaTcattctccatatcctgaaga	7	9	2	4	rs17853073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:47895271T>C	ENST00000259021.4	+	9	1333	c.1053T>C	c.(1051-1053)taT>taC	p.Y351Y	KAT7_ENST00000435742.2_Silent_p.Y165Y|KAT7_ENST00000503935.2_Silent_p.Y195Y|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000454930.2_Silent_p.Y212Y|KAT7_ENST00000509773.1_Silent_p.Y241Y|KAT7_ENST00000510819.1_Silent_p.Y182Y|KAT7_ENST00000424009.2_Silent_p.Y321Y	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	351	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATACCTGGTATCATTCTCCAT	0.433													C|||	211	0.0421326	0.1528	0.0086	5008	,	,		22669	0.0		0.002	False		,,,				2504	0.001				p.Y351Y		Atlas-SNP	.											.	.	.	.	0			c.T1053C						PASS	.	C	,,,,	522,3884	778.0+/-414.3	31,460,1712	92	87	88		963,636,723,546,1053	2.9	1	17	dbSNP_123	88	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KAT7	NM_001199155.1,NM_001199156.1,NM_001199157.1,NM_001199158.1,NM_007067.4	,,,,	31,462,6010	CC,CT,TT		0.0233,11.8475,4.0289	,,,,	321/582,212/473,241/502,182/443,351/612	47895271	524,12482	2203	4300	6503	SO:0001819	synonymous_variant	11143	exon9			CTGGTATCATTCT	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1053T>C	17.37:g.47895271T>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	174	91	0.522988	NM_007067	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	CCDS11554.1																																																																																			T|0.965;C|0.035	0.035	strong		0.433	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		C	47895271	T	C	47895271	2	2	22	1	0	0	0	0	0	0	0	1	10103	1442	50	2		2	MYST2	17	47895271	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	106516	47895271	33299939	8898	14006										
PDK2	5164	hgsc.bcm.edu	37	chr17	48174794	48174794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctcctgccaggatccagCaatgcctgtgagaaaacctc	8	13	1	1	rs11546968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48174794C>T	ENST00000503176.1	+	2	287	c.126C>T	c.(124-126)agC>agT	p.S42S	PDK2_ENST00000007708.3_5'UTR|PDK2_ENST00000511026.1_3'UTR	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	42					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CAGGATCCAGCAATGCCTGTG	0.552									Autosomal Dominant Polycystic Kidney Disease				C|||	15	0.00299521	0.0113	0.0	5008	,	,		20973	0.0		0.0	False		,,,				2504	0.0				p.S42S		Atlas-SNP	.											.	PDK2	41	.	0			c.C126T						PASS	.	C	,,,	53,4353	52.9+/-88.7	0,53,2150	80	64	69		,,126,126	3.2	1	17	dbSNP_120	69	5,8595	4.3+/-15.6	0,5,4295	no	utr-5,utr-5,coding-synonymous,coding-synonymous	PDK2	NM_001199898.1,NM_001199899.1,NM_001199900.1,NM_002611.4	,,,	0,58,6445	TT,TC,CC		0.0581,1.2029,0.4459	,,,	,,42/200,42/408	48174794	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	5164	exon2	Familial Cancer Database	ADPKD	ATCCAGCAATGCC	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.126C>T	17.37:g.48174794C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_002611	A8K3A7|B3KNW0|Q6P515|Q9BS05	Silent	SNP	ENST00000503176.1	37	CCDS11559.1																																																																																			C|0.997;T|0.003	0.003	strong		0.552	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		T	48174794	C	T	48174794	2	4	22	1	0	0	0	0	0	0	0	1	11676	709	25	2		2	PDK2	17	48174794	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	279523	48174794	33020416	8899	14007										
PDK2	5164	hgsc.bcm.edu	37	chr17	48174908	48174908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagtgctgagcacaccctcCgtgcagctggtgcagagctg	14	13	0	2	rs9839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48174908C>T	ENST00000503176.1	+	2	401	c.240C>T	c.(238-240)tcC>tcT	p.S80S	PDK2_ENST00000007708.3_Silent_p.S16S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	80				S -> T (in Ref. 1; AAC42010). {ECO:0000305}.	cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCACACCCTCCGTGCAGCTGG	0.607									Autosomal Dominant Polycystic Kidney Disease				T|||	2179	0.435104	0.4932	0.4395	5008	,	,		22189	0.38		0.2783	False		,,,				2504	0.5716				p.S80S		Atlas-SNP	.											PDK2,NS,carcinoma,0,1	PDK2	41	1	0			c.C240T						PASS	.	T	,,,	2092,2314	605.2+/-390.5	499,1094,610	78	65	69		48,48,240,240	-7.4	0.8	17	dbSNP_105	69	2532,6068	692.8+/-404.6	370,1792,2138	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDK2	NM_001199898.1,NM_001199899.1,NM_001199900.1,NM_002611.4	,,,	869,2886,2748	TT,TC,CC		29.4419,47.4807,35.5528	,,,	16/344,16/344,80/200,80/408	48174908	4624,8382	2203	4300	6503	SO:0001819	synonymous_variant	5164	exon2	Familial Cancer Database	ADPKD	ACCCTCCGTGCAG	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.240C>T	17.37:g.48174908C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_002611	A8K3A7|B3KNW0|Q6P515|Q9BS05	Silent	SNP	ENST00000503176.1	37	CCDS11559.1																																																																																			C|0.639;T|0.361	0.361	strong		0.607	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		T	48174908	C	T	48174908	2	4	22	1	0	0	0	0	0	0	0	1	11676	639	23	1		1	PDK2	17	48174908	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	114	48174908	33020302	8900	14008										
SGCA	6442	hgsc.bcm.edu	37	chr17	48247689	48247689	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttgctgctggcctatgtCatgtgctgccggcgggaggg	16	11	1	0	rs1801191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48247689C>T	ENST00000262018.3	+	7	969	c.933C>T	c.(931-933)gtC>gtT	p.V311V	SGCA_ENST00000543315.1_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	311					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TGGCCTATGTCATGTGCTGCC	0.632													C|||	394	0.0786741	0.236	0.0288	5008	,	,		20676	0.0079		0.0457	False		,,,				2504	0.0082				p.V311V		Atlas-SNP	.											.	SGCA	35	.	0			c.C933T						PASS	.	C	,	874,3532	341.8+/-306.9	85,704,1414	98	86	90		933,	2.7	0.9	17	dbSNP_89	90	358,8242	120.2+/-179.5	5,348,3947	no	coding-synonymous,intron	SGCA	NM_000023.2,NM_001135697.1	,	90,1052,5361	TT,TC,CC		4.1628,19.8366,9.4726	,	311/388,	48247689	1232,11774	2203	4300	6503	SO:0001819	synonymous_variant	6442	exon7			CTATGTCATGTGC	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.933C>T	17.37:g.48247689C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	154	74	0.480519	NM_000023	A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	CCDS32679.1	149	0.06822344322344322	98	0.1991869918699187	9	0.024861878453038673	8	0.013986013986013986	34	0.044854881266490766	C	10.64	1.407907	0.25378	0.198366	0.041628	ENSG00000108823	ENST00000504073	.	.	.	5.8	2.68	0.31781	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.06625	-1.0816	3	.	.	.	-14.6598	9.1601	0.37016	0.0:0.6906:0.0:0.3094	rs1801191;rs1801191	.	.	.	Y	84	.	.	H	+	1	0	SGCA	45602688	1.000000	0.71417	0.897000	0.35233	0.977000	0.68977	1.725000	0.38074	0.349000	0.23975	-0.136000	0.14681	CAT	C|0.911;T|0.089	0.089	strong		0.632	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		T	48247689	C	T	48247689	2	4	22	1	0	0	0	0	0	0	0	1	14199	813	29	2		2	SGCA	17	48247689	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	72781	48247689	32947521	8901	14009										
COL1A1	1277	hgsc.bcm.edu	37	chr17	48263786	48263786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggctgagtggggtacacGcaggtctcaccagtctccat	13	12	2	1	rs34940368	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48263786G>A	ENST00000225964.5	-	49	4015	c.3897C>T	c.(3895-3897)tgC>tgT	p.C1299C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1299	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGGGGTACACGCAGGTCTCAC	0.562			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						G|||	32	0.00638978	0.0227	0.0029	5008	,	,		22768	0.0		0.0	False		,,,				2504	0.0				p.C1299C		Atlas-SNP	.		Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	COL1A1,rectum,carcinoma,0,1	COL1A1	158	1	0			c.C3897T	GRCh37	CM012085	COL1A1	M	rs34940368	scavenged	.	G		75,4331	66.4+/-103.9	0,75,2128	160	143	149	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3897	-0.3	1	17	dbSNP_126	149	0,8600		0,0,4300	no	coding-synonymous	COL1A1	NM_000088.3		0,75,6428	AA,AG,GG		0.0,1.7022,0.5767		1299/1465	48263786	75,12931	2203	4300	6503	SO:0001819	synonymous_variant	1277	exon49			GTACACGCAGGTC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3897C>T	17.37:g.48263786G>A		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	141	63	0.446809	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																			G|0.994;A|0.006	0.006	strong		0.562	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			A	48263786	G	A	48263786	2	1	22	1	0	0	0	0	0	0	0	1	3677	1079	38	1		1	COL1A1	17	48263786	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16097	48263786	32931424	8902	14010										
COL1A1	1277	hgsc.bcm.edu	37	chr17	48264448	48264448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggagaccgttgagtccAtctttgccaggagcaccagc	12	13	1	2	rs1800218	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48264448A>G	ENST00000225964.5	-	47	3577	c.3459T>C	c.(3457-3459)gaT>gaC	p.D1153D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1153	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGTTGAGTCCATCTTTGCCAG	0.622			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A|||	234	0.0467252	0.1626	0.0072	5008	,	,		18926	0.0		0.003	False		,,,				2504	0.0112				p.D1153D		Atlas-SNP	.		Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	.	COL1A1	158	.	0			c.T3459C						PASS	.	A		653,3753	268.0+/-268.2	46,561,1596	34	37	36		3459	-3.3	1	17	dbSNP_89	36	11,8587	7.7+/-29.5	0,11,4288	no	coding-synonymous	COL1A1	NM_000088.3		46,572,5884	GG,GA,AA		0.1279,14.8207,5.1061		1153/1465	48264448	664,12340	2203	4299	6502	SO:0001819	synonymous_variant	1277	exon47			GAGTCCATCTTTG	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3459T>C	17.37:g.48264448A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	89	42	0.47191	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																			A|0.952;G|0.048	0.048	strong		0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			G	48264448	A	G	48264448	2	3	22	1	0	0	0	0	0	0	0	1	3677	214	8	2		2	COL1A1	17	48264448	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	662	48264448	32930762	8903	14011										
XYLT2	64132	hgsc.bcm.edu	37	chr17	48434008	48434008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggcctactgggagaacaCctacgacgcggctgatggcc	13	13	0	2	rs151294421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48434008C>T	ENST00000017003.2	+	8	1668	c.1619C>T	c.(1618-1620)aCc>aTc	p.T540I	XYLT2_ENST00000507602.1_Missense_Mutation_p.T540I	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	540					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TGGGAGAACACCTACGACGCG	0.627													C|||	21	0.00419329	0.0129	0.0043	5008	,	,		16601	0.0		0.0	False		,,,				2504	0.001				p.T540I		Atlas-SNP	.											.	XYLT2	51	.	0			c.C1619T						PASS	.	C	ILE/THR	52,4354	51.6+/-87.1	0,52,2151	67	71	70		1619	0	0.6	17	dbSNP_134	70	0,8600		0,0,4300	yes	missense	XYLT2	NM_022167.2	89	0,52,6451	TT,TC,CC		0.0,1.1802,0.3998	benign	540/866	48434008	52,12954	2203	4300	6503	SO:0001583	missense	64132	exon8			AGAACACCTACGA	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1619C>T	17.37:g.48434008C>T	ENSP00000017003:p.Thr540Ile	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	21	9	0.428571	NM_022167	Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	1.807	-0.475727	0.04414	0.011802	0.0	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.38077	1.16;1.16	4.89	-0.0431	0.13861	.	0.659654	0.15078	N	0.281852	T	0.09730	0.0239	N	0.03608	-0.345	0.24112	N	0.995837	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.15952	T	0.53	-8.2731	9.014	0.36159	0.0:0.3312:0.0:0.6688	.	540	Q9H1B5	XYLT2_HUMAN	I	540	ENSP00000017003:T540I;ENSP00000426501:T540I	ENSP00000017003:T540I	T	+	2	0	XYLT2	45789007	0.101000	0.21875	0.586000	0.28679	0.021000	0.10359	1.227000	0.32576	0.116000	0.18110	-0.253000	0.11424	ACC	C|0.996;T|0.004	0.004	strong		0.627	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		T	48434008	C	T	48434008	3	4	22	1	0	0	0	0	1	0	0	0	17461	507	18	2	1649	2	XYLT2	17	48434008	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	169560	48434008	32761202	8904	14012										
EME1	146956	hgsc.bcm.edu	37	chr17	48453219	48453219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacggatgccggcagcagaGacaagcaaggcagaaggaaa	14	9	0	2	rs114836030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48453219G>A	ENST00000338165.4	+	2	732	c.650G>A	c.(649-651)aGa>aAa	p.R217K	MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_Missense_Mutation_p.R217K|MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.R217K	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	217					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CGGCAGCAGAGACAAGCAAGG	0.507								Direct reversal of damage;Homologous recombination					G|||	34	0.00678914	0.0227	0.0058	5008	,	,		22256	0.0		0.0	False		,,,				2504	0.0				p.R217K		Atlas-SNP	.											.	EME1	39	.	0			c.G650A						PASS	.	G	LYS/ARG,LYS/ARG	79,4327	68.7+/-106.4	1,77,2125	82	83	83		650,650	0.3	0	17	dbSNP_132	83	0,8600		0,0,4300	yes	missense,missense	EME1	NM_001166131.1,NM_152463.2	26,26	1,77,6425	AA,AG,GG		0.0,1.793,0.6074	benign,benign	217/584,217/571	48453219	79,12927	2203	4300	6503	SO:0001583	missense	146956	exon2			AGCAGAGACAAGC	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.650G>A	17.37:g.48453219G>A	ENSP00000339897:p.Arg217Lys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_152463	Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	G	0.100	-1.152905	0.01700	0.01793	0.0	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.10860	2.83;2.87;2.87	5.11	0.34	0.15985	.	1.089720	0.07057	N	0.833034	T	0.03095	0.0091	L	0.34521	1.04	0.09310	N	1	B;B	0.20052	0.041;0.011	B;B	0.14578	0.011;0.003	T	0.42464	-0.9450	10	0.07644	T	0.81	0.1474	5.5521	0.17095	0.4065:0.1533:0.4403:0.0	.	217;217	Q96AY2-2;Q96AY2	.;EME1_HUMAN	K	217	ENSP00000339897:R217K;ENSP00000376952:R217K;ENSP00000421700:R217K	ENSP00000339897:R217K	R	+	2	0	EME1	45808218	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.423000	0.21313	0.189000	0.20188	-0.145000	0.13849	AGA	G|0.994;A|0.006	0.006	strong		0.507	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		A	48453219	G	A	48453219	3	1	22	1	0	0	0	0	1	0	0	0	5088	942	33	2	652	2	EME1	17	48453219	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19211	48453219	32741991	8905	14013										
CHAD	1101	hgsc.bcm.edu	37	chr17	48542690	48542690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctttcttggacctcttgGtggggaacttgcagctgcgg	14	10	2	0	rs2231510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48542690G>A	ENST00000508540.1	-	3	1201	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.T350I|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	350			T -> I (in dbSNP:rs2231510).		bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGACCTCTTGGTGGGGAACTT	0.597													G|||	100	0.0199681	0.0734	0.0043	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.0				p.T350I		Atlas-SNP	.											.	CHAD	36	.	0			c.C1049T						PASS	.	G	ILE/THR,	338,4068	178.0+/-206.8	13,312,1878	56	52	53		1049,	5.1	1	17	dbSNP_98	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	89,	13,313,6177	AA,AG,GG		0.0116,7.6714,2.6065	benign,	350/360,	48542690	339,12667	2203	4300	6503	SO:0001583	missense	1101	exon3			CTCTTGGTGGGGA	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.1049C>T	17.37:g.48542690G>A	ENSP00000423812:p.Thr350Ile	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	109	50	0.458716	NM_001267	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	39|39	0.017857142857142856|0.017857142857142856	38|38	0.07723577235772358|0.07723577235772358	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.86|17.86	3.492361|3.492361	0.64074|0.64074	0.076714|0.076714	1.16E-4|1.16E-4	ENSG00000136457|ENSG00000136457	ENST00000506187|ENST00000508540;ENST00000258969	.|T;T	.|0.56275	.|0.47;0.47	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.056342	.|0.64402	.|D	.|0.000001	T|T	0.05960|0.05960	0.0155|0.0155	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.64830	.|0.994	.|P	.|0.50314	.|0.637	T|T	0.03413|0.03413	-1.1039|-1.1039	5|10	.|0.37606	.|T	.|0.19	.|.	18.5806|18.5806	0.91170|0.91170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs2231510;rs2231510|rs2231510;rs2231510	.|350	.|O15335	.|CHAD_HUMAN	S|I	33|350	.|ENSP00000423812:T350I;ENSP00000258969:T350I	.|ENSP00000258969:T350I	P|T	-|-	1|2	0|0	CHAD|CHAD	45897689|45897689	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.971000|0.971000	0.66376|0.66376	8.496000|8.496000	0.90485|0.90485	2.380000|2.380000	0.81148|0.81148	0.655000|0.655000	0.94253|0.94253	CCA|ACC	G|0.966;A|0.034	0.034	strong		0.597	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48542690	G	A	48542690	3	1	22	1	0	0	0	0	1	0	0	0	3310	1261	44	2	34	2	CHAD	17	48542690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89471	48542690	32652520	8906	14014										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48594973	48594973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtcccggtgacagcttcGatggcagtgaccagatcctg	13	12	0	3	rs75706684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48594973G>A	ENST00000323776.5	+	4	673	c.511G>A	c.(511-513)Gat>Aat	p.D171N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D134N	NM_032133.4	NP_115509.4			MYCBP associated protein									p.D134N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGACAGCTTCGATGGCAGTGA	0.512													G|||	135	0.0269569	0.0961	0.0086	5008	,	,		6764	0.0		0.002	False		,,,				2504	0.0				p.D171N		Atlas-SNP	.											MYCBPAP,NS,NS,0,1	MYCBPAP	135	1	1	Substitution - Missense(1)	pancreas(1)	c.G511A						PASS	.	G	ASN/ASP	371,4035	188.1+/-214.6	26,319,1858	68	68	68		511	-5.3	0	17	dbSNP_131	68	5,8595	3.7+/-12.6	0,5,4295	yes	missense	MYCBPAP	NM_032133.4	23	26,324,6153	AA,AG,GG		0.0581,8.4203,2.891	benign	171/985	48594973	376,12630	2203	4300	6503	SO:0001583	missense	84073	exon4			AGCTTCGATGGCA	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.511G>A	17.37:g.48594973G>A	ENSP00000323184:p.Asp171Asn	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	196	100	0.510204	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	47	0.02152014652014652	41	0.08333333333333333	4	0.011049723756906077	0	0.0	2	0.002638522427440633	G	16.50	3.139471	0.56936	0.084203	5.81E-4	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.26957	1.72;1.7	5.6	-5.28	0.02755	.	1.777540	0.02671	N	0.108617	T	0.00724	0.0024	L	0.27053	0.805	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.46543	0.52;0.52	T	0.23868	-1.0176	10	0.11794	T	0.64	3.2954	0.1959	0.00139	0.2453:0.2206:0.2006:0.3335	.	134;171	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	N	171;186;134	ENSP00000323184:D171N;ENSP00000397209:D134N	ENSP00000323184:D171N	D	+	1	0	MYCBPAP	45949972	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	0.053000	0.14184	-0.811000	0.04369	-0.219000	0.12488	GAT	G|0.970;A|0.030	0.030	strong		0.512	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		A	48594973	G	A	48594973	3	1	22	1	0	0	0	0	1	0	0	0	10019	1058	37	1	525	1	MYCBPAP	17	48594973	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52283	48594973	32600237	8907	14015										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48597114	48597114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatggagcccatcactcaCatcaggaagccccactccat	6	17	4	0	rs28498091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48597114C>T	ENST00000323776.5	+	7	1173	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Silent_p.H300H	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCATCACTCACATCAGGAAGC	0.577													C|||	832	0.166134	0.3631	0.0937	5008	,	,		21016	0.0496		0.1421	False		,,,				2504	0.0961				p.H337H		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.C1011T						PASS	.	C		1566,2840	487.6+/-361.0	285,996,922	74	62	66		1011	2.3	0	17	dbSNP_125	66	1235,7365	245.8+/-274.5	90,1055,3155	no	coding-synonymous	MYCBPAP	NM_032133.4		375,2051,4077	TT,TC,CC		14.3605,35.5424,21.5362		337/985	48597114	2801,10205	2203	4300	6503	SO:0001819	synonymous_variant	84073	exon7			CACTCACATCAGG	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1011C>T	17.37:g.48597114C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	80	45	0.5625	NM_032133		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																			C|0.802;T|0.198	0.198	strong		0.577	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		T	48597114	C	T	48597114	2	4	22	1	0	0	0	0	0	0	0	1	10019	477	17	2		2	MYCBPAP	17	48597114	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2141	48597114	32598096	8908	14016										
EPN3	55040	hgsc.bcm.edu	37	chr17	48619249	48619249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgttcggcgcgggcgagCcgggcaggccgacgctaaac	16	15	0	0	rs4794159	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48619249C>A	ENST00000268933.3	+	10	2209	c.1630C>A	c.(1630-1632)Ccg>Acg	p.P544T	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P572T	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	544	3 X 3 AA repeats of N-P-F.		P -> T (in dbSNP:rs4794159). {ECO:0000269|PubMed:14702039}.			clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCGGGCGAGCCGGGCAGGCC	0.721													C|||	1854	0.370208	0.5227	0.4481	5008	,	,		11892	0.1091		0.4642	False		,,,				2504	0.2812				p.P544T		Atlas-SNP	.											EPN3,NS,carcinoma,0,1	EPN3	32	1	0			c.C1630A						PASS	.	C	THR/PRO	2124,2270		539,1046,612	17	21	19		1630	5.1	0	17	dbSNP_111	19	3968,4620		958,2052,1284	no	missense	EPN3	NM_017957.2	38	1497,3098,1896	AA,AC,CC		46.204,48.3386,46.9265	possibly-damaging	544/633	48619249	6092,6890	2197	4294	6491	SO:0001583	missense	55040	exon10			GGCGAGCCGGGCA	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1630C>A	17.37:g.48619249C>A	ENSP00000268933:p.Pro544Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_017957	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	806	0.36904761904761907	236	0.4796747967479675	166	0.4585635359116022	62	0.10839160839160839	342	0.45118733509234826	C	17.75	3.467176	0.63625	0.483386	0.46204	ENSG00000049283	ENST00000268933;ENST00000537145	T;T	0.45276	0.9;0.9	5.13	5.13	0.70059	.	0.831291	0.10264	N	0.695608	T	0.00012	0.0000	M	0.62154	1.92	0.09310	P	1.0	P;P	0.43352	0.804;0.764	B;P	0.45428	0.36;0.48	T	0.48536	-0.9027	9	0.20519	T	0.43	-4.8223	18.1664	0.89729	0.0:1.0:0.0:0.0	rs4794159	572;544	F6QWW5;Q9H201	.;EPN3_HUMAN	T	544;572	ENSP00000268933:P544T;ENSP00000439512:P572T	ENSP00000268933:P544T	P	+	1	0	EPN3	45974248	0.998000	0.40836	0.016000	0.15963	0.172000	0.22775	5.548000	0.67255	2.406000	0.81754	0.491000	0.48974	CCG	C|0.565;A|0.435	0.435	strong		0.721	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48619249	C	A	48619249	3	1	22	1	0	0	0	0	1	0	0	0	5187	739	26	4	1664	4	EPN3	17	48619249	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22135	48619249	32575961	8909	14017										
SPATA20	64847	hgsc.bcm.edu	37	chr17	48625928	48625928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtctaggtacccctggggaCaggaagccttcgacaaggcc	14	12	1	0	rs8076632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48625928C>G	ENST00000356488.4	+	3	345	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	SPATA20_ENST00000006658.6_Missense_Mutation_p.Q104E|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q44E|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	88			Q -> E (in dbSNP:rs8076632). {ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCCTGGGGACAGGAAGCCTT	0.637													C|||	1690	0.33746	0.6831	0.2767	5008	,	,		18074	0.0625		0.3499	False		,,,				2504	0.184				p.Q104E		Atlas-SNP	.											SPATA20,NS,carcinoma,0,1	SPATA20	59	1	0			c.C310G						scavenged	.	C	GLU/GLN	2797,1607	646.3+/-398.3	904,989,309	72	81	78		310	4.6	1	17	dbSNP_116	78	3108,5492	464.2+/-366.2	561,1986,1753	yes	missense	SPATA20	NM_022827.2	29	1465,2975,2062	GG,GC,CC		36.1395,36.4896,45.4091	benign	104/803	48625928	5905,7099	2202	4300	6502	SO:0001583	missense	64847	exon4			TGGGGACAGGAAG		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.262C>G	17.37:g.48625928C>G	ENSP00000348878:p.Gln88Glu	Somatic	39	1	0.025641		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	746	0.3415750915750916	324	0.6585365853658537	113	0.31215469613259667	48	0.08391608391608392	261	0.34432717678100266	C	10.44	1.351888	0.24512	0.635104	0.361395	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.35973	1.28;1.28;1.28	4.59	4.59	0.56863	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.057503	0.64402	D	0.000001	T	0.00012	0.0000	N	0.00507	-1.42	0.20403	P	0.9999042779	B;B;B	0.14012	0.009;0.009;0.003	B;B;B	0.12156	0.007;0.007;0.007	T	0.39375	-0.9617	9	0.02654	T	1	-19.6545	15.7482	0.77962	0.0:1.0:0.0:0.0	rs8076632;rs11559097;rs17855972;rs57357545;rs8076632	88;88;104	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	E	104;88;44	ENSP00000006658:Q104E;ENSP00000348878:Q88E;ENSP00000376935:Q44E	ENSP00000006658:Q104E	Q	+	1	0	SPATA20	45980927	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.181000	0.65054	2.368000	0.80403	0.561000	0.74099	CAG	C|0.583;G|0.417	0.417	strong		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		G	48625928	C	G	48625928	3	3	22	1	0	0	0	0	1	0	0	0	15005	479	17	4	324	4	SPATA20	17	48625928	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6679	48625928	32569282	8910	14018										
SPATA20	64847	hgsc.bcm.edu	37	chr17	48628092	48628092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggcttctatagcgcagaAgatgcagactcgcccccaga	12	12	1	4	rs1132414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48628092A>G	ENST00000356488.4	+	10	1232	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E	SPATA20_ENST00000006658.6_Silent_p.E399E|SPATA20_ENST00000393244.3_Silent_p.E339E|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	383					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATAGCGCAGAAGATGCAGACT	0.672											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1497	0.298922	0.68	0.2349	5008	,	,		16897	0.0427		0.2535	False		,,,				2504	0.1401				p.E399E		Atlas-SNP	.											.	SPATA20	59	.	0			c.A1197G						PASS	.	G		2682,1724	489.2+/-361.4	834,1014,355	47	59	55		1197	4.7	1	17	dbSNP_86	55	2185,6409	687.2+/-404.2	267,1651,2379	no	coding-synonymous	SPATA20	NM_022827.2		1101,2665,2734	GG,GA,AA		25.4247,39.1285,37.4385		399/803	48628092	4867,8133	2203	4297	6500	SO:0001819	synonymous_variant	64847	exon11			CGCAGAAGATGCA		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1149A>G	17.37:g.48628092A>G		Somatic	77	0	0	119	WXS	Illumina HiSeq	Phase_I	80	80	1	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	CCDS58563.1																																																																																			A|0.652;G|0.348	0.348	strong		0.672	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		G	48628092	A	G	48628092	2	3	22	1	0	0	0	0	0	0	0	1	15005	69	3	3		3	SPATA20	17	48628092	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2164	48628092	32567118	8911	14019										
SPATA20	64847	hgsc.bcm.edu	37	chr17	48628470	48628470	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgcggaccttgctcaatTcagggctggagaagctcttc	12	12	3	1	rs9913430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48628470T>A	ENST00000356488.4	+	11	1530	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.S439T|SPATA20_ENST00000006658.6_Missense_Mutation_p.S499T	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	483			S -> T (in dbSNP:rs9913430). {ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTTGCTCAATTCAGGGCTGGA	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1785	0.35643	0.7542	0.3617	5008	,	,		13551	0.0843		0.2773	False		,,,				2504	0.1769				p.S499T		Atlas-SNP	.											SPATA20,colon,carcinoma,0,1	SPATA20	59	1	0			c.T1495A						PASS	.	A	THR/SER	2995,1409	454.5+/-350.7	1020,955,227	35	33	34		1495	-6.5	0	17	dbSNP_119	34	2359,6241	696.9+/-404.9	312,1735,2253	yes	missense	SPATA20	NM_022827.2	58	1332,2690,2480	AA,AT,TT		27.4302,31.9936,41.1719	benign	499/803	48628470	5354,7650	2202	4300	6502	SO:0001583	missense	64847	exon12			CTCAATTCAGGGC		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1447T>A	17.37:g.48628470T>A	ENSP00000348878:p.Ser483Thr	Somatic	94	0	0	119	WXS	Illumina HiSeq	Phase_I	101	96	0.950495	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	736	0.336996336996337	345	0.7012195121951219	128	0.35359116022099446	54	0.0944055944055944	209	0.2757255936675462	A	0.808	-0.753198	0.03041	0.680064	0.274302	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.29142	1.58;1.58;1.58	5.95	-6.46	0.01908	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	1.194140	0.05720	N	0.597621	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31138	-0.9954	9	0.08599	T	0.76	-33.8639	6.734	0.23399	0.2286:0.0:0.3033:0.4681	rs9913430;rs17855970;rs58643872;rs9913430	483;499	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	T	499;483;439	ENSP00000006658:S499T;ENSP00000348878:S483T;ENSP00000376935:S439T	ENSP00000006658:S499T	S	+	1	0	SPATA20	45983469	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.109000	0.10840	-2.343000	0.00623	-1.068000	0.02270	TCA	T|0.605;A|0.395	0.395	strong		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48628470	T	A	48628470	3	1	22	1	0	0	0	0	1	0	0	0	15005	1783	62	5	1541	5	SPATA20	17	48628470	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	378	48628470	32566740	8912	14020										
CACNA1G	8913	hgsc.bcm.edu	37	chr17	48653144	48653144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctcgggcagcaggtgtgCgggttgggctgctcagcagc	17	11	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48653144C>T	ENST00000359106.5	+	8	1381	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	CACNA1G_ENST00000502264.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R461W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R461W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R461W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R461W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R461W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R461W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R461W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R461W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R461W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R461W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	461					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCAGGTGTGCGGGTTGGGCT	0.672																																					p.R461W		Atlas-SNP	.											.	CACNA1G	659	.	0			c.C1381T						PASS	.																																			SO:0001583	missense	8913	exon8			GGTGTGCGGGTTG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1381C>T	17.37:g.48653144C>T	ENSP00000352011:p.Arg461Trp	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	44	0.564103	NM_001256360	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.610132	0.28712	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97352	-4.2;-4.21;-4.35;-4.14;-4.2;-4.19;-4.23;-4.28;-4.25;-4.27;-4.28;-4.16;-4.16;-4.22;-4.2;-4.14;-4.23;-4.18;-4.15;-4.23;-4.2;-4.16;-4.22;-4.15;-4.22;-4.22	5.15	5.15	0.70609	.	0.317948	0.29783	N	0.011202	D	0.97241	0.9098	L	0.42632	1.34	0.37962	D	0.932991	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999;1.0;0.997;1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999;0.013;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D	0.83275	0.991;0.918;0.984;0.996;0.959;0.984;0.994;0.959;0.994;0.918;0.947;0.975;0.945;0.947;0.994;0.918;0.965;0.926;0.959;0.991;0.988;0.945;0.947;0.918;0.003;0.985	D	0.98292	1.0514	10	0.66056	D	0.02	.	11.91	0.52733	0.2981:0.7019:0.0:0.0	.	461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	461	ENSP00000353990:R461W;ENSP00000339302:R461W;ENSP00000392390:R461W;ENSP00000347078:R461W;ENSP00000409759:R461W;ENSP00000425522:R461W;ENSP00000426261:R461W;ENSP00000425451:R461W;ENSP00000422407:R461W;ENSP00000426814:R461W;ENSP00000427238:R461W;ENSP00000423112:R461W;ENSP00000420918:R461W;ENSP00000426172:R461W;ENSP00000423045:R461W;ENSP00000427173:R461W;ENSP00000426098:R461W;ENSP00000425698:R461W;ENSP00000426232:R461W;ENSP00000423317:R461W;ENSP00000350979:R461W;ENSP00000352011:R461W;ENSP00000414388:R461W;ENSP00000423155:R461W;ENSP00000422268:R461W;ENSP00000421518:R461W	ENSP00000339302:R461W	R	+	1	2	CACNA1G	46008143	0.991000	0.36638	0.995000	0.50966	0.137000	0.21094	2.463000	0.45058	2.388000	0.81334	0.655000	0.94253	CGG	.	.	none		0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48653144	C	T	48653144	3	4	22	1	0	0	0	0	1	0	0	0	2544	759	27	1	1411	1	CACNA1G	17	48653144	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24674	48653144	32542066	8913	14021										
CACNA1G	8913	hgsc.bcm.edu	37	chr17	48701800	48701800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagatgcacctcatctgctCcagccccacagcgccccaac	6	19	2	1	rs2301835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48701800C>T	ENST00000359106.5	+	37	6309	c.6309C>T	c.(6307-6309)ctC>ctT	p.L2103L	CACNA1G_ENST00000513689.2_Silent_p.L2013L|CACNA1G_ENST00000429973.2_Silent_p.L1992L|CACNA1G_ENST00000514181.1_Silent_p.L1985L|CACNA1G_ENST00000502264.1_Silent_p.L2032L|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000503485.1_Silent_p.L1976L|CACNA1G_ENST00000513964.1_Silent_p.L1965L|CACNA1G_ENST00000507510.2_Silent_p.L2058L|CACNA1G_ENST00000515165.1_Silent_p.L2010L|CACNA1G_ENST00000515765.1_Silent_p.L2047L|CACNA1G_ENST00000515411.1_Silent_p.L2040L|CACNA1G_ENST00000442258.2_Silent_p.L1969L|CACNA1G_ENST00000514079.1_Silent_p.L2017L|CACNA1G_ENST00000505165.1_Silent_p.L2010L|CACNA1G_ENST00000510115.1_Silent_p.L2024L|CACNA1G_ENST00000507896.1_Silent_p.L1999L|CACNA1G_ENST00000510366.1_Silent_p.L1958L|CACNA1G_ENST00000512389.1_Silent_p.L1999L|CACNA1G_ENST00000354983.4_Silent_p.L2069L|CACNA1G_ENST00000360761.4_Silent_p.L1987L|CACNA1G_ENST00000352832.5_Silent_p.L1976L|CACNA1G_ENST00000507336.1_Silent_p.L2092L|CACNA1G_ENST00000514717.1_Silent_p.L1953L|CACNA1G_ENST00000507609.1_Silent_p.L2003L|CACNA1G_ENST00000358244.5_Silent_p.L1976L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2103					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCATCTGCTCCAGCCCCACA	0.637													C|||	580	0.115815	0.1884	0.0533	5008	,	,		14461	0.0982		0.0885	False		,,,				2504	0.1084				p.L2103L		Atlas-SNP	.											.	CACNA1G	659	.	0			c.C6309T						PASS	.	C	,,,,,,,,,,,,,	588,3444		33,522,1461	30	31	31		6309,5928,6240,5997,6072,6141,5961,6096,6030,6174,5976,5928,5907,6207	1	1	17	dbSNP_100	31	629,7751		24,581,3585	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	57,1103,5046	TT,TC,CC		7.506,14.5833,9.805	,,,,,,,,,,,,,	2103/2378,1976/2172,2080/2355,1999/2274,2024/2299,2047/2322,1987/2262,2032/2307,2010/2285,2058/2333,1992/2267,1976/2251,1969/2244,2069/2344	48701800	1217,11195	2016	4190	6206	SO:0001819	synonymous_variant	8913	exon37			TCTGCTCCAGCCC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6309C>T	17.37:g.48701800C>T		Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	340	174	0.511765	NM_018896	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			C|0.878;T|0.122	0.122	strong		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48701800	C	T	48701800	2	4	22	1	0	0	0	0	0	0	0	1	2544	842	30	2		2	CACNA1G	17	48701800	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48656	48701800	32493410	8914	14022										
CACNA1G	8913	hgsc.bcm.edu	37	chr17	48703986	48703986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctccggaggagggctccGtccagcgactccaaggatcc	13	15	0	0	rs9893223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48703986G>A	ENST00000359106.5	+	38	7008	c.7008G>A	c.(7006-7008)ccG>ccA	p.P2336P	CACNA1G_ENST00000502264.1_Silent_p.P2265P|CACNA1G_ENST00000507510.2_Silent_p.P2291P|CACNA1G_ENST00000510366.1_Silent_p.P2191P|CACNA1G_ENST00000514717.1_Silent_p.P2186P|CACNA1G_ENST00000514181.1_Silent_p.P2218P|CACNA1G_ENST00000513964.1_Silent_p.P2198P|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515765.1_Silent_p.P2280P|CACNA1G_ENST00000512389.1_Silent_p.P2232P|CACNA1G_ENST00000360761.4_Silent_p.P2220P|CACNA1G_ENST00000515165.1_Silent_p.P2243P|CACNA1G_ENST00000507896.1_Silent_p.P2153P|CACNA1G_ENST00000358244.5_Silent_p.P2130P|CACNA1G_ENST00000442258.2_Silent_p.P2202P|CACNA1G_ENST00000354983.4_Silent_p.P2302P|CACNA1G_ENST00000507336.1_Silent_p.P2325P|CACNA1G_ENST00000510115.1_Silent_p.P2257P|CACNA1G_ENST00000515411.1_Silent_p.P2273P|CACNA1G_ENST00000514079.1_Silent_p.P2250P|CACNA1G_ENST00000429973.2_Silent_p.P2225P|CACNA1G_ENST00000507609.1_Silent_p.P2236P|CACNA1G_ENST00000505165.1_Silent_p.P2164P|CACNA1G_ENST00000503485.1_Silent_p.P2209P|CACNA1G_ENST00000352832.5_Silent_p.P2209P|CACNA1G_ENST00000513689.2_Silent_p.P2246P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2336					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGGGCTCCGTCCAGCGACT	0.622											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	965	0.192692	0.3858	0.1369	5008	,	,		14554	0.0813		0.0557	False		,,,				2504	0.227				p.P2336P		Atlas-SNP	.											CACNA1G_ENST00000359106,NS,carcinoma,0,6	CACNA1G	659	6	0			c.G7008A						PASS	.	G	,,,,,,,,,,,,,	1251,2609		202,847,881	27	32	30		7008,6390,6939,6696,6771,6840,6660,6795,6729,6873,6675,6627,6606,6906	-8.3	0.2	17	dbSNP_119	30	423,7815		13,397,3709	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	215,1244,4590	AA,AG,GG		5.1347,32.4093,13.837	,,,,,,,,,,,,,	2336/2378,2130/2172,2313/2355,2232/2274,2257/2299,2280/2322,2220/2262,2265/2307,2243/2285,2291/2333,2225/2267,2209/2251,2202/2244,2302/2344	48703986	1674,10424	1930	4119	6049	SO:0001819	synonymous_variant	8913	exon38			GGCTCCGTCCAGC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7008G>A	17.37:g.48703986G>A		Somatic	82	0	0	956	WXS	Illumina HiSeq	Phase_I	140	55	0.392857	NM_018896	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			G|0.876;A|0.124	0.124	strong		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48703986	G	A	48703986	2	1	22	1	0	0	0	0	0	0	0	1	2544	1132	40	1		1	CACNA1G	17	48703986	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2186	48703986	32491224	8915	14023										
ABCC3	8714	hgsc.bcm.edu	37	chr17	48734136	48734136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatggcctggtccatggccGggcccctgcccctgttttct	11	17	1	0	rs35777968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48734136G>A	ENST00000285238.8	+	3	376	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ABCC3_ENST00000427699.1_Missense_Mutation_p.R99Q	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	99					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCATGGCCGGGCCCCTGCC	0.617													G|||	61	0.0121805	0.0454	0.0014	5008	,	,		16262	0.0		0.0	False		,,,				2504	0.0				p.R99Q		Atlas-SNP	.											.	ABCC3	138	.	0			c.G296A						PASS	.	G	GLN/ARG,GLN/ARG	157,4249	103.4+/-141.9	2,153,2048	70	71	71		296,296	-2.1	0	17	dbSNP_126	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ABCC3	NM_001144070.1,NM_003786.3	43,43	2,155,6346	AA,AG,GG		0.0233,3.5633,1.2225	benign,benign	99/573,99/1528	48734136	159,12847	2203	4300	6503	SO:0001583	missense	8714	exon3			ATGGCCGGGCCCC	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.296G>A	17.37:g.48734136G>A	ENSP00000285238:p.Arg99Gln	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	106	51	0.481132	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	G	11.08	1.534357	0.27475	0.035633	2.33E-4	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.35236	1.32;1.32	5.53	-2.14	0.07123	.	1.579970	0.03817	N	0.266872	T	0.04137	0.0115	N	0.12182	0.205	0.09310	N	1	B;B	0.17038	0.01;0.02	B;B	0.13407	0.002;0.009	T	0.12372	-1.0550	10	0.12430	T	0.62	0.3777	6.1119	0.20106	0.4088:0.2585:0.3327:0.0	rs35777968;rs45584534;rs59497545	99;99	O15438;O15438-5	MRP3_HUMAN;.	Q	99	ENSP00000395160:R99Q;ENSP00000285238:R99Q	ENSP00000285238:R99Q	R	+	2	0	ABCC3	46089135	0.000000	0.05858	0.018000	0.16275	0.347000	0.29111	0.356000	0.20181	-0.007000	0.14345	0.591000	0.81541	CGG	G|0.987;A|0.013	0.013	strong		0.617	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48734136	G	A	48734136	3	1	22	1	0	0	0	0	1	0	0	0	54	1116	39	1	306	1	ABCC3	17	48734136	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30150	48734136	32461074	8916	14024										
ANKRD40	91369	hgsc.bcm.edu	37	chr17	48774319	48774319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttccttaacagagtattGggtaactttctgatcttctc	6	10	3	2	rs3815378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48774319G>A	ENST00000285243.6	-	4	1211	c.942C>T	c.(940-942)ccC>ccT	p.P314P	RP11-294J22.6_ENST00000574246.1_RNA|Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	314										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			ACAGAGTATTGGGTAACTTTC	0.438													G|||	215	0.0429313	0.0908	0.0807	5008	,	,		19551	0.0327		0.002	False		,,,				2504	0.0041				p.P314P		Atlas-SNP	.											.	ANKRD40	35	.	0			c.C942T						PASS	.	G		367,4039	187.8+/-214.3	12,343,1848	133	128	130		942	3.4	1	17	dbSNP_107	130	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	ANKRD40	NM_052855.3		12,356,6135	AA,AG,GG		0.1512,8.3296,2.9217		314/369	48774319	380,12626	2203	4300	6503	SO:0001819	synonymous_variant	91369	exon4			AGTATTGGGTAAC	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.942C>T	17.37:g.48774319G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	115	44	0.382609	NM_052855	Q96E32	Silent	SNP	ENST00000285243.6	37	CCDS11572.1																																																																																			G|0.963;A|0.037	0.037	strong		0.438	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		A	48774319	G	A	48774319	2	1	22	1	0	0	0	0	0	0	0	1	669	1335	47	2		2	ANKRD40	17	48774319	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40183	48774319	32420891	8917	14025										
WFIKKN2	124857	hgsc.bcm.edu	37	chr17	48913352	48913352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgggagcaggtggcagcGctgctgctgctgctgctact	16	12	0	0	rs117494161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48913352G>A	ENST00000311378.4	+	1	582	c.54G>A	c.(52-54)gcG>gcA	p.A18A	WFIKKN2_ENST00000426127.1_Intron	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	18					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGCAGCgctgctgctgc	0.682													G|||	94	0.01877	0.0477	0.0101	5008	,	,		18532	0.0218		0.0	False		,,,				2504	0.002				p.A18A		Atlas-SNP	.											.	WFIKKN2	69	.	0			c.G54A						PASS	.	G		190,4206		4,182,2012	14	14	14		54	0.4	1	17	dbSNP_132	14	8,8576		0,8,4284	no	coding-synonymous	WFIKKN2	NM_175575.5		4,190,6296	AA,AG,GG		0.0932,4.3221,1.5254		18/577	48913352	198,12782	2198	4292	6490	SO:0001819	synonymous_variant	124857	exon1			GGCAGCGCTGCTG	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.54G>A	17.37:g.48913352G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	107	63	0.588785	NM_175575	Q6UXZ9	Silent	SNP	ENST00000311378.4	37	CCDS11575.1																																																																																			G|0.982;A|0.018	0.018	strong		0.682	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		A	48913352	G	A	48913352	2	1	22	1	0	0	0	0	0	0	0	1	17356	1074	38	1		1	WFIKKN2	17	48913352	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	139033	48913352	32281858	8918	14026										
WFIKKN2	124857	hgsc.bcm.edu	37	chr17	48917609	48917609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagagcagccccaatggCacggctttcccggcggccga	13	15	1	1	rs36031777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:48917609C>T	ENST00000311378.4	+	2	1488	c.960C>T	c.(958-960)ggC>ggT	p.G320G	WFIKKN2_ENST00000426127.1_Silent_p.G227G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	320					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCCCAATGGCACGGCTTTCC	0.667													C|||	549	0.109625	0.1596	0.0274	5008	,	,		16399	0.0377		0.0278	False		,,,				2504	0.2587				p.G320G		Atlas-SNP	.											WFIKKN2,colon,carcinoma,0,1	WFIKKN2	69	1	0			c.C960T						PASS	.	C		597,3809	252.1+/-258.6	49,499,1655	50	45	46		960	4.4	1	17	dbSNP_126	46	237,8363	95.0+/-156.8	2,233,4065	no	coding-synonymous	WFIKKN2	NM_175575.5		51,732,5720	TT,TC,CC		2.7558,13.5497,6.4124		320/577	48917609	834,12172	2203	4300	6503	SO:0001819	synonymous_variant	124857	exon2			CAATGGCACGGCT	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.960C>T	17.37:g.48917609C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	78	44	0.564103	NM_175575	Q6UXZ9	Silent	SNP	ENST00000311378.4	37	CCDS11575.1																																																																																			C|0.933;T|0.067	0.067	strong		0.667	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48917609	C	T	48917609	2	4	22	1	0	0	0	0	0	0	0	1	17356	697	25	2		2	WFIKKN2	17	48917609	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4257	48917609	32277601	8919	14027										
SPAG9	9043	hgsc.bcm.edu	37	chr17	49043640	49043640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcccatgggctcactcaTtgccatacatcacttgccac	6	15	3	0	rs9896965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:49043640T>C	ENST00000262013.7	-	30	4167	c.3959A>G	c.(3958-3960)aAt>aGt	p.N1320S	SPAG9_ENST00000510283.1_Missense_Mutation_p.N1176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.N1306S|SPAG9_ENST00000509724.1_5'Flank|SPAG9_ENST00000505279.1_Missense_Mutation_p.N1310S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1320			N -> S (in dbSNP:rs9896965).		activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGCTCACTCATTGCCATACAT	0.443													C|||	348	0.0694888	0.2451	0.0245	5008	,	,		18804	0.0		0.005	False		,,,				2504	0.002				p.N1320S		Atlas-SNP	.											.	SPAG9	151	.	0			c.A3959G						PASS	.	C	SER/ASN,SER/ASN	1032,3374	727.1+/-409.8	120,792,1291	200	187	191		3959,3917	0.2	1	17	dbSNP_119	191	46,8554	817.3+/-406.9	0,46,4254	yes	missense,missense	SPAG9	NM_001130528.2,NM_003971.5	46,46	120,838,5545	CC,CT,TT		0.5349,23.4226,8.2885	benign,benign	1320/1322,1306/1308	49043640	1078,11928	2203	4300	6503	SO:0001583	missense	9043	exon30			CACTCATTGCCAT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3959A>G	17.37:g.49043640T>C	ENSP00000262013:p.Asn1320Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_001130528	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	136	0.06227106227106227	122	0.24796747967479674	10	0.027624309392265192	0	0.0	4	0.005277044854881266	C	0.006	-2.086087	0.00371	0.234226	0.005349	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.20738	2.05;2.05;2.06;2.06	5.65	0.179	0.15063	.	0.530266	0.24511	N	0.037894	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.000000000032756E-6	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.46638	-0.9177	9	0.15952	T	0.53	-3.8897	10.9806	0.47492	0.0:0.6111:0.0:0.3889	rs9896965;rs52825432;rs9896965	1310;1320;1306;1176	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	S	1320;1077;1067;1176;1310;1306;918	ENSP00000262013:N1320S;ENSP00000423165:N1176S;ENSP00000426900:N1310S;ENSP00000349636:N1306S	ENSP00000262013:N1320S	N	-	2	0	SPAG9	46398639	0.101000	0.21875	0.984000	0.44739	0.012000	0.07955	-0.236000	0.09003	-0.064000	0.13043	-0.790000	0.03334	AAT	T|0.917;C|0.083	0.083	strong		0.443	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		C	49043640	T	C	49043640	3	2	22	1	0	0	0	0	1	0	0	0	14985	1493	52	2	10	2	SPAG9	17	49043640	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	126031	49043640	32151570	8920	14028										
UTP18	51096	hgsc.bcm.edu	37	chr17	49350802	49350802	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacttctcttccaagaggAatcttgaaggtgagagtcag	10	8	4	3	rs2318789	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:49350802A>C	ENST00000225298.7	+	5	759	c.702A>C	c.(700-702)ggA>ggC	p.G234G		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	234					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTCCAAGAGGAATCTTGAAGG	0.398													A|||	2134	0.426118	0.1248	0.4424	5008	,	,		13944	0.6071		0.4791	False		,,,				2504	0.5808				p.G234G		Atlas-SNP	.											.	UTP18	28	.	0			c.A702C						PASS	.	A		655,3107		56,543,1282	131	123	125		702	0.6	1	17	dbSNP_100	125	3821,4393		903,2015,1189	no	coding-synonymous	UTP18	NM_016001.2		959,2558,2471	CC,CA,AA		46.5181,17.411,37.3747		234/557	49350802	4476,7500	1881	4107	5988	SO:0001819	synonymous_variant	51096	exon5			AAGAGGAATCTTG	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.702A>C	17.37:g.49350802A>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_016001	Q9H4N6	Silent	SNP	ENST00000225298.7	37	CCDS42362.1																																																																																			A|0.569;C|0.431	0.431	strong		0.398	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		C	49350802	A	C	49350802	2	2	22	1	0	0	0	0	0	0	0	1	17095	233	9	5		5	UTP18	17	49350802	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	307162	49350802	31844408	8921	14029										
KIF2B	84643	hgsc.bcm.edu	37	chr17	51900836	51900836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatgaagcagaaaaagtctCcctgcctctgggaaatccag	10	10	2	3	rs59657238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:51900836C>T	ENST00000268919.4	+	1	598	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAAAGTCTCCCTGCCTCTG	0.567													C|||	293	0.0585064	0.1483	0.0259	5008	,	,		17038	0.001		0.0626	False		,,,				2504	0.0153				p.P148S		Atlas-SNP	.											.	KIF2B	254	.	0			c.C442T						PASS	.	C	SER/PRO	497,3909	211.5+/-231.7	22,453,1728	53	57	55		442	0.3	0.3	17	dbSNP_129	55	446,8154	126.7+/-185.1	12,422,3866	yes	missense	KIF2B	NM_032559.4	74	34,875,5594	TT,TC,CC		5.186,11.2801,7.2505	benign	148/674	51900836	943,12063	2203	4300	6503	SO:0001583	missense	84643	exon1			AAGTCTCCCTGCC	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.442C>T	17.37:g.51900836C>T	ENSP00000268919:p.Pro148Ser	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	37	19	0.513514	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	144	0.06593406593406594	83	0.16869918699186992	13	0.03591160220994475	0	0.0	48	0.0633245382585752	C	0.971	-0.700139	0.03279	0.112801	0.05186	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72725	-0.68	4.99	0.323	0.15893	.	0.317263	0.22194	N	0.063336	T	0.00144	0.0004	N	0.11927	0.2	0.36768	P	0.11636500000000005	B	0.20887	0.049	B	0.16722	0.016	T	0.03112	-1.1071	9	0.07482	T	0.82	.	3.98	0.09490	0.2754:0.4093:0.2414:0.0739	rs59657238;rs62069524	148	Q8N4N8	KIF2B_HUMAN	S	148;71	ENSP00000268919:P148S	ENSP00000268919:P148S	P	+	1	0	KIF2B	49255835	0.000000	0.05858	0.291000	0.24904	0.377000	0.30045	0.255000	0.18333	0.023000	0.15187	-0.136000	0.14681	CCC	C|0.931;T|0.069	0.069	strong		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900836	C	T	51900836	3	4	22	1	0	0	0	0	1	0	0	0	8298	855	30	2	444	2	KIF2B	17	51900836	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2550034	51900836	29294374	8922	14030										
ANKFN1	162282	hgsc.bcm.edu	37	chr17	54431364	54431364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaccaacaatgtgcccatTgcaaggattcttctgaggac	9	10	2	2	rs9902114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:54431364T>C	ENST00000318698.2	+	5	602	c.567T>C	c.(565-567)atT>atC	p.I189I	ANKFN1_ENST00000566473.2_Silent_p.I189I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	189										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGTGCCCATTGCAAGGATTC	0.473													T|||	356	0.0710863	0.2564	0.0245	5008	,	,		20607	0.0		0.0	False		,,,				2504	0.0				p.I189I		Atlas-SNP	.											.	ANKFN1	115	.	0			c.T567C						PASS	.	T		906,3500	348.5+/-309.9	89,728,1386	132	103	113		567	1.8	1	17	dbSNP_119	113	21,8579	15.3+/-51.7	1,19,4280	no	coding-synonymous	ANKFN1	NM_153228.2		90,747,5666	CC,CT,TT		0.2442,20.5629,7.1275		189/764	54431364	927,12079	2203	4300	6503	SO:0001819	synonymous_variant	162282	exon5			GCCCATTGCAAGG	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.567T>C	17.37:g.54431364T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	114	60	0.526316	NM_153228		Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																			T|0.926;C|0.074	0.074	strong		0.473	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		C	54431364	T	C	54431364	2	2	22	1	0	0	0	0	0	0	0	1	625	1800	63	2		2	ANKFN1	17	54431364	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2530528	54431364	26763846	8923	14031										
ANKFN1	162282	hgsc.bcm.edu	37	chr17	54450073	54450073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagcccaggagagggtgaGtgaactgtctgcccaggtgg	18	8	1	3	rs115263675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:54450073G>A	ENST00000318698.2	+	6	712	c.677G>A	c.(676-678)aGt>aAt	p.S226N	ANKFN1_ENST00000566473.2_Missense_Mutation_p.S226N	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	226										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAGAGGGTGAGTGAACTGTCT	0.502													G|||	77	0.0153754	0.056	0.0043	5008	,	,		17983	0.0		0.0	False		,,,				2504	0.0				p.S226N		Atlas-SNP	.											.	ANKFN1	115	.	0			c.G677A						PASS	.	G	ASN/SER	210,4196	128.2+/-165.1	3,204,1996	157	148	151		677	2.1	1	17	dbSNP_132	151	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKFN1	NM_153228.2	46	3,205,6295	AA,AG,GG		0.0116,4.7662,1.6223	benign	226/764	54450073	211,12795	2203	4300	6503	SO:0001583	missense	162282	exon6			GGGTGAGTGAACT	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.677G>A	17.37:g.54450073G>A	ENSP00000321627:p.Ser226Asn	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	G	6.241	0.412619	0.11812	0.047662	1.16E-4	ENSG00000153930	ENST00000318698	T	0.22539	1.95	5.64	2.14	0.27477	.	0.409722	0.29799	N	0.011164	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	10	0.16896	T	0.51	-6.438	4.4468	0.11602	0.1486:0.2008:0.5381:0.1125	.	226	Q8N957	ANKF1_HUMAN	N	226	ENSP00000321627:S226N	ENSP00000321627:S226N	S	+	2	0	ANKFN1	51805072	0.802000	0.28943	0.995000	0.50966	0.985000	0.73830	0.633000	0.24598	1.317000	0.45149	0.462000	0.41574	AGT	G|0.982;A|0.018	0.018	strong		0.502	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54450073	G	A	54450073	3	1	22	1	0	0	0	0	1	0	0	0	625	1029	36	2	699	2	ANKFN1	17	54450073	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18709	54450073	26745137	8924	14032										
AKAP1	8165	hgsc.bcm.edu	37	chr17	55183203	55183203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaccaggaacacgcagagaTgacagtacaaagctggagct	12	10	0	2	rs2230772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:55183203T>C	ENST00000337714.3	+	2	611	c.378T>C	c.(376-378)gaT>gaC	p.D126D	AKAP1_ENST00000571629.1_Silent_p.D126D|AKAP1_ENST00000572557.1_Silent_p.D126D|AKAP1_ENST00000314126.3_Silent_p.D126D|AKAP1_ENST00000539273.1_Silent_p.D126D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	126					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CACGCAGAGATGACAGTACAA	0.527													t|||	2395	0.478235	0.3548	0.4798	5008	,	,		21186	0.8046		0.4026	False		,,,				2504	0.3855				p.D126D		Atlas-SNP	.											.	AKAP1	73	.	0			c.T378C						PASS	.	T	,,	1526,2880	482.1+/-359.3	260,1006,937	121	107	111		378,378,378	-11.6	0	17	dbSNP_98	111	3564,5036	516.3+/-378.8	736,2092,1472	no	coding-synonymous,coding-synonymous,coding-synonymous	AKAP1	NM_001242902.1,NM_001242903.1,NM_003488.3	,,	996,3098,2409	CC,CT,TT		41.4419,34.6346,39.1358	,,	126/904,126/904,126/904	55183203	5090,7916	2203	4300	6503	SO:0001819	synonymous_variant	8165	exon3			CAGAGATGACAGT	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.378T>C	17.37:g.55183203T>C		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	191	97	0.507853	NM_001242902	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	CCDS11594.1																																																																																			T|0.554;C|0.446	0.446	strong		0.527	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			C	55183203	T	C	55183203	2	2	22	1	0	0	0	0	0	0	0	1	445	1461	51	2		2	AKAP1	17	55183203	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	733130	55183203	26012007	8925	14033										
AKAP1	8165	hgsc.bcm.edu	37	chr17	55183716	55183716	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacgccaaagcccaggaTagaggtgtcgagggagaact					rs1050515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:55183716T>C	ENST00000337714.3	+	2	1124	c.891T>C	c.(889-891)gaT>gaC	p.D297D	AKAP1_ENST00000571629.1_Silent_p.D297D|AKAP1_ENST00000572557.1_Silent_p.D297D|AKAP1_ENST00000314126.3_Silent_p.D297D|AKAP1_ENST00000539273.1_Silent_p.D297D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	297					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGCCCAGGATAGAGGTGTCG	0.552													C|||	2958	0.590655	0.587	0.549	5008	,	,		18274	0.8115		0.5318	False		,,,				2504	0.4581				p.D297D		Atlas-SNP	.											.	AKAP1	73	.	0			c.T891C						PASS	.	C	,,	2509,1897	545.2+/-376.7	719,1071,413	77	84	81		891,891,891	-11.5	0	17	dbSNP_86	81	4525,4075	560.0+/-387.5	1187,2151,962	no	coding-synonymous,coding-synonymous,coding-synonymous	AKAP1	NM_001242902.1,NM_001242903.1,NM_003488.3	,,	1906,3222,1375	CC,CT,TT		47.3837,43.0549,45.9173	,,	297/904,297/904,297/904	55183716	7034,5972	2203	4300	6503	SO:0001819	synonymous_variant	8165	exon3			CCAGGATAGAGGT	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.891T>C	17.37:g.55183716T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	122	121	0.991803	NM_001242902	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	CCDS11594.1																																																																																			C|0.565;G|0.000;T|0.435	0.565	strong		0.552	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			C	55183716	T	C	55183716	2	2	22	1	0	0	0	0	0	0	0	1	445	1403	49	2		2	AKAP1	17	55183716	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	513	55183716	26011494	8926	14034	290	2								
AKAP1	8165	hgsc.bcm.edu	37	chr17	55183726	55183726	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcccaggatagaggtgtcGagggagaactgggcaatgag					rs61731968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:55183726G>A	ENST00000337714.3	+	2	1134	c.901G>A	c.(901-903)Gag>Aag	p.E301K	AKAP1_ENST00000314126.3_Missense_Mutation_p.E301K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E301K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E301K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E301K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	301					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TAGAGGTGTCGAGGGAGAACT	0.547													G|||	345	0.0688898	0.2496	0.0159	5008	,	,		18330	0.002		0.002	False		,,,				2504	0.0				p.E301K		Atlas-SNP	.											.	AKAP1	73	.	0			c.G901A						PASS	.	G	LYS/GLU,LYS/GLU,LYS/GLU	946,3460	357.1+/-313.8	103,740,1360	79	86	84		901,901,901	1.9	0	17	dbSNP_129	84	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	AKAP1	NM_001242902.1,NM_001242903.1,NM_003488.3	56,56,56	103,745,5655	AA,AG,GG		0.0581,21.4707,7.312	benign,benign,benign	301/904,301/904,301/904	55183726	951,12055	2203	4300	6503	SO:0001583	missense	8165	exon3			GGTGTCGAGGGAG	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.901G>A	17.37:g.55183726G>A	ENSP00000337736:p.Glu301Lys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	49	0.429825	NM_001242902	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	CCDS11594.1	132	0.06043956043956044	127	0.258130081300813	3	0.008287292817679558	2	0.0034965034965034965	0	0.0	G	10.31	1.315692	0.23908	0.214707	5.81E-4	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.17213	2.56;2.29;2.56	5.15	1.85	0.25348	.	1.753900	0.02141	N	0.057175	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.31599	0.33	B	0.18561	0.022	T	0.38329	-0.9666	9	0.21014	T	0.42	2.3366	2.2365	0.04010	0.3265:0.0:0.4319:0.2416	rs61731968	301	Q92667	AKAP1_HUMAN	K	301;301;343;301	ENSP00000337736:E301K;ENSP00000314075:E301K;ENSP00000443139:E301K	ENSP00000314075:E301K	E	+	1	0	AKAP1	52538725	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.248000	0.08854	0.193000	0.20303	0.561000	0.74099	GAG	G|0.927;A|0.073	0.073	strong		0.547	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			A	55183726	G	A	55183726	3	1	22	1	0	0	0	0	1	0	0	0	445	1059	37	1	903	1	AKAP1	17	55183726	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10	55183726	26011484	8927	14035	290	2								
CUEDC1	404093	hgsc.bcm.edu	37	chr17	55950064	55950064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcgcggttccgttgcagCtccttcatgaactcctcgtt	9	13	1	1	rs35704289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:55950064C>T	ENST00000577830.1	-	5	1157	c.744G>A	c.(742-744)gaG>gaA	p.E248E	CUEDC1_ENST00000407144.2_Silent_p.E248E|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Silent_p.E248E|CUEDC1_ENST00000577840.1_Silent_p.E111E	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	248										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCCGTTGCAGCTCCTTCATGA	0.622													C|||	1172	0.234026	0.2595	0.3285	5008	,	,		19550	0.0069		0.3221	False		,,,				2504	0.2761				p.E248E		Atlas-SNP	.											.	CUEDC1	37	.	0			c.G744A						PASS	.	C		1185,3221	415.7+/-337.3	173,839,1191	77	62	67		744	4.5	1	17	dbSNP_126	67	2914,5686	456.1+/-364.0	500,1914,1886	no	coding-synonymous	CUEDC1	NM_017949.1		673,2753,3077	TT,TC,CC		33.8837,26.8951,31.5162		248/387	55950064	4099,8907	2203	4300	6503	SO:0001819	synonymous_variant	404093	exon5			TTGCAGCTCCTTC	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.744G>A	17.37:g.55950064C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	106	42	0.396226	NM_001271875	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																			C|0.717;T|0.283	0.283	strong		0.622	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		T	55950064	C	T	55950064	2	4	22	1	0	0	0	0	0	0	0	1	4052	796	28	2		2	CUEDC1	17	55950064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	766338	55950064	25245146	8928	14036										
CUEDC1	404093	hgsc.bcm.edu	37	chr17	55950082	55950082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccttcatgaactcctcGttctgcaggaaaagcgcgat	9	12	2	1	rs16942487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:55950082G>A	ENST00000577830.1	-	5	1139	c.726C>T	c.(724-726)aaC>aaT	p.N242N	CUEDC1_ENST00000407144.2_Silent_p.N242N|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Silent_p.N242N|CUEDC1_ENST00000577840.1_Silent_p.N105N	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	242										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGAACTCCTCGTTCTGCAGGA	0.632													G|||	182	0.0363419	0.1324	0.0101	5008	,	,		19386	0.0		0.0	False		,,,				2504	0.0				p.N242N		Atlas-SNP	.											.	CUEDC1	37	.	0			c.C726T						PASS	.	G		498,3908	230.1+/-244.4	30,438,1735	88	72	78		726	-2.5	1	17	dbSNP_123	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CUEDC1	NM_017949.1		30,440,6033	AA,AG,GG		0.0233,11.3028,3.8444		242/387	55950082	500,12506	2203	4300	6503	SO:0001819	synonymous_variant	404093	exon5			CTCCTCGTTCTGC	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.726C>T	17.37:g.55950082G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	107	47	0.439252	NM_001271875	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																			G|0.966;A|0.034	0.034	strong		0.632	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		A	55950082	G	A	55950082	2	1	22	1	0	0	0	0	0	0	0	1	4052	1136	40	1		1	CUEDC1	17	55950082	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	55950082	25245128	8929	14037										
OR4D2	124538	hgsc.bcm.edu	37	chr17	56247794	56247794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcatttacctctatgccCggcccttcactccattccct	4	18	2	0	rs148697791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56247794C>T	ENST00000545221.1	+	1	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCTCTATGCCCGGCCCTTCAC	0.542													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		21719	0.0		0.0	False		,,,				2504	0.0				p.R260W		Atlas-SNP	.											.	OR4D2	48	.	0			c.C778T						PASS	.	C	TRP/ARG	59,4347	57.4+/-93.9	0,59,2144	167	129	142		778	5.7	1	17	dbSNP_134	142	0,8600		0,0,4300	yes	missense	OR4D2	NM_001004707.3	101	0,59,6444	TT,TC,CC		0.0,1.3391,0.4536	benign	260/308	56247794	59,12947	2203	4300	6503	SO:0001583	missense	124538	exon1			TATGCCCGGCCCT		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.778C>T	17.37:g.56247794C>T	ENSP00000441354:p.Arg260Trp	Somatic	361	1	0.00277008		WXS	Illumina HiSeq	Phase_I	362	191	0.527624	NM_001004707	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	12.16	1.854682	0.32791	0.013391	0.0	ENSG00000255713	ENST00000545221	T	0.37915	1.17	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.25082	0.0609	M	0.81341	2.54	0.30651	N	0.755458	B	0.33345	0.409	B	0.34931	0.192	T	0.40887	-0.9539	10	0.30854	T	0.27	-13.8261	11.0572	0.47925	0.0:0.9155:0.0:0.0845	.	260	P58180	OR4D2_HUMAN	W	260	ENSP00000441354:R260W	ENSP00000441354:R260W	R	+	1	2	OR4D2	53602793	0.003000	0.15002	0.994000	0.49952	0.678000	0.39670	1.764000	0.38471	2.860000	0.98153	0.609000	0.83330	CGG	C|0.995;T|0.005	0.005	strong		0.542	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			T	56247794	C	T	56247794	3	4	22	1	0	0	0	0	1	0	0	0	11056	643	23	1	780	1	OR4D2	17	56247794	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	297712	56247794	24947416	8930	14038										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56383744	56383744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaggaggcccagttgtgTgggctgtggagtacacaaac	17	7	0	0	rs11079346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56383744T>C	ENST00000343736.4	-	26	5346	c.5183A>G	c.(5182-5184)cAc>cGc	p.H1728R	BZRAP1_ENST00000355701.3_Missense_Mutation_p.H1728R|BZRAP1_ENST00000268893.6_Missense_Mutation_p.H1668R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1728			H -> R (in dbSNP:rs11079346). {ECO:0000269|PubMed:9734811}.			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAGTTGTGTGGGCTGTGGA	0.597													C|||	1454	0.290335	0.3533	0.2709	5008	,	,		15017	0.249		0.3161	False		,,,				2504	0.2352				p.H1728R		Atlas-SNP	.											.	BZRAP1	287	.	0			c.A5183G						PASS	.	C	ARG/HIS,ARG/HIS	1477,2895		256,965,965	59	53	55		5183,5003	-6.6	0	17	dbSNP_120	55	2345,6149		352,1641,2254	yes	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	29,29	608,2606,3219	CC,CT,TT		27.6077,33.7832,29.7062	benign,benign	1728/1858,1668/1798	56383744	3822,9044	2186	4247	6433	SO:0001583	missense	9256	exon26			GTTGTGTGGGCTG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5183A>G	17.37:g.56383744T>C	ENSP00000345824:p.His1728Arg	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	650	0.2976190476190476	168	0.34146341463414637	110	0.30386740331491713	142	0.24825174825174826	230	0.3034300791556728	C	2.707	-0.269685	0.05716	0.337832	0.276077	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.03831	3.8;3.79;3.8	5.71	-6.59	0.01830	.	0.398534	0.28026	N	0.016885	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.43782	-0.9370	9	0.12766	T	0.61	.	11.3801	0.49752	0.0:0.3607:0.084:0.5552	rs11079346;rs61579152;rs11079346	1719;1668;1728	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	1728;1728;1668	ENSP00000347929:H1728R;ENSP00000345824:H1728R;ENSP00000268893:H1668R	ENSP00000268893:H1668R	H	-	2	0	BZRAP1	53738743	0.014000	0.17966	0.002000	0.10522	0.144000	0.21451	-0.628000	0.05515	-1.538000	0.01734	-0.735000	0.03563	CAC	T|0.694;C|0.306	0.306	strong		0.597	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		C	56383744	T	C	56383744	3	2	22	1	0	0	0	0	1	0	0	0	1577	1696	59	2	414	2	BZRAP1	17	56383744	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	135950	56383744	24811466	8931	14039										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56386118	56386118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctgcccgcctcctgctcAtcctccgaatcatattcaat	5	18	3	0	rs2680689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56386118A>G	ENST00000343736.4	-	22	4678	c.4515T>C	c.(4513-4515)gaT>gaC	p.D1505D	BZRAP1_ENST00000268893.6_Silent_p.D1445D|BZRAP1_ENST00000355701.3_Silent_p.D1505D			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1505						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCCTGCTCATCCTCCGAAT	0.652													G|||	1422	0.283946	0.3086	0.2738	5008	,	,		16907	0.25		0.332	False		,,,				2504	0.2434				p.D1505D		Atlas-SNP	.											BZRAP1_ENST00000355701,NS,carcinoma,0,4	BZRAP1	287	4	0			c.T4515C						PASS	.	G	,	1294,3082		192,910,1086	19	21	20		4515,4335	-9.7	0.2	17	dbSNP_100	20	2545,6013		413,1719,2147	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	605,2629,3233	GG,GA,AA		29.7383,29.5704,29.6815	,	1505/1858,1445/1798	56386118	3839,9095	2188	4279	6467	SO:0001819	synonymous_variant	9256	exon22			CTGCTCATCCTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4515T>C	17.37:g.56386118A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	48	0.545455	NM_004758	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																			A|0.709;G|0.291	0.291	strong		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		G	56386118	A	G	56386118	2	3	22	1	0	0	0	0	0	0	0	1	1577	214	8	2		2	BZRAP1	17	56386118	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2374	56386118	24809092	8932	14040										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56386358	56386358	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagtcggctgcagtgttcTcggggatctggaggccgcct	16	10	2	1	rs2526360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56386358T>A	ENST00000343736.4	-	22	4438	c.4275A>T	c.(4273-4275)cgA>cgT	p.R1425R	BZRAP1_ENST00000355701.3_Silent_p.R1425R|BZRAP1_ENST00000268893.6_Silent_p.R1365R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1425						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGTGTTCTCGGGGATCTG	0.662													A|||	1407	0.28095	0.2973	0.2709	5008	,	,		15887	0.25		0.332	False		,,,				2504	0.2454				p.R1425R		Atlas-SNP	.											BZRAP1_ENST00000355701,NS,carcinoma,0,2	BZRAP1	287	2	0			c.A4275T						PASS	.	A	,	1205,3139		177,851,1144	47	57	54		4275,4095	-9.9	0.9	17	dbSNP_100	54	2502,5968		398,1706,2131	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	575,2557,3275	AA,AT,TT		29.5396,27.7394,28.9293	,	1425/1858,1365/1798	56386358	3707,9107	2172	4235	6407	SO:0001819	synonymous_variant	9256	exon22			GTGTTCTCGGGGA	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4275A>T	17.37:g.56386358T>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	78	38	0.487179	NM_004758	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																			T|0.704;A|0.296	0.296	strong		0.662	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		A	56386358	T	A	56386358	2	1	22	1	0	0	0	0	0	0	0	1	1577	1538	54	5		5	BZRAP1	17	56386358	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	240	56386358	24808852	8933	14041										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56388238	56388238	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctcgtgggacccttttgCcatctctctggaagggcttg	12	12	2	0	rs2680704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56388238C>G	ENST00000343736.4	-	19	3581	c.3418G>C	c.(3418-3420)Gca>Cca	p.A1140P	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1080P|BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1140P			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1140	Pro-rich.		A -> P (in dbSNP:rs2680704). {ECO:0000269|PubMed:9734811}.			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACCCTTTTGCCATCTCTCTG	0.657													G|||	1310	0.261581	0.2375	0.2637	5008	,	,		17851	0.2391		0.331	False		,,,				2504	0.2444				p.A1140P		Atlas-SNP	.											BZRAP1_ENST00000355701,NS,carcinoma,0,4	BZRAP1	287	4	0			c.G3418C						PASS	.	G	PRO/ALA,PRO/ALA	1005,3355		114,777,1289	14	15	15		3418,3238	-1	0	17	dbSNP_100	15	2456,6040		397,1662,2189	yes	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	27,27	511,2439,3478	GG,GC,CC		28.9077,23.0505,26.9213	benign,benign	1140/1858,1080/1798	56388238	3461,9395	2180	4248	6428	SO:0001583	missense	9256	exon19			CTTTTGCCATCTC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3418G>C	17.37:g.56388238C>G	ENSP00000345824:p.Ala1140Pro	Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	125	124	0.992	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	590	0.27014652014652013	107	0.21747967479674796	107	0.2955801104972376	135	0.23601398601398602	241	0.3179419525065963	G	7.172	0.587841	0.13812	0.230505	0.289077	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04406	3.64;3.64;3.63	5.8	-1.05	0.10036	.	1.823320	0.02195	N	0.061728	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47947	-0.9077	9	0.20519	T	0.43	.	6.008	0.19557	0.2611:0.3743:0.3647:0.0	rs2680704;rs3744100;rs2680704	1140;1080;1140	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	P	1140;1140;1080	ENSP00000347929:A1140P;ENSP00000345824:A1140P;ENSP00000268893:A1080P	ENSP00000268893:A1080P	A	-	1	0	BZRAP1	53743237	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.383000	0.07398	-0.170000	0.10816	-0.215000	0.12644	GCA	C|0.730;G|0.270	0.270	strong		0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		G	56388238	C	G	56388238	3	3	22	1	0	0	0	0	1	0	0	0	1577	739	26	4	2207	4	BZRAP1	17	56388238	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1880	56388238	24806972	8934	14042										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56388356	56388356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaggctgaagcaaggggCgctctggcctctgggcttgg	20	9	2	1	rs61745692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56388356C>T	ENST00000343736.4	-	19	3463	c.3300G>A	c.(3298-3300)gcG>gcA	p.A1100A	BZRAP1_ENST00000268893.6_Silent_p.A1040A|BZRAP1_ENST00000355701.3_Silent_p.A1100A			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1100	Pro-rich.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCAAGGGGCGCTCTGGCCT	0.692													C|||	151	0.0301518	0.1097	0.0086	5008	,	,		16644	0.0		0.0	False		,,,				2504	0.0				p.A1100A		Atlas-SNP	.											BZRAP1_ENST00000355701,caecum,carcinoma,0,2	BZRAP1	287	2	0			c.G3300A						PASS	.	C	,	391,4007		15,361,1823	17	22	20		3300,3120	-3.6	0.3	17	dbSNP_129	20	3,8591		0,3,4294	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	15,364,6117	TT,TC,CC		0.0349,8.8904,3.0326	,	1100/1858,1040/1798	56388356	394,12598	2199	4297	6496	SO:0001819	synonymous_variant	9256	exon19			AAGGGGCGCTCTG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3300G>A	17.37:g.56388356C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	161	86	0.534162	NM_004758	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																			C|0.968;T|0.032	0.032	strong		0.692	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		T	56388356	C	T	56388356	2	4	22	1	0	0	0	0	0	0	0	1	1577	755	27	1		1	BZRAP1	17	56388356	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118	56388356	24806854	8935	14043										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56389631	56389631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtgaaggggcccggcccAcaggtccaggttctccagca	13	13	1	1	rs9905604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56389631A>G	ENST00000343736.4	-	17	2714	c.2551T>C	c.(2551-2553)Tgg>Cgg	p.W851R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.W791R|BZRAP1_ENST00000355701.3_Missense_Mutation_p.W851R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	851	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		W -> R (in dbSNP:rs9905604). {ECO:0000269|PubMed:9734811}.			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCCGGCCCACAGGTCCAGG	0.672													G|||	555	0.110823	0.1498	0.0735	5008	,	,		15498	0.1329		0.0716	False		,,,				2504	0.1022				p.W851R		Atlas-SNP	.											.	BZRAP1	287	.	0			c.T2551C						PASS	.	G	ARG/TRP,ARG/TRP	630,3772		45,540,1616	16	19	18		2551,2371	4.8	0.9	17	dbSNP_119	18	600,7988		22,556,3716	no	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	101,101	67,1096,5332	GG,GA,AA		6.9865,14.3117,9.4688	benign,benign	851/1858,791/1798	56389631	1230,11760	2201	4294	6495	SO:0001583	missense	9256	exon17			CGGCCCACAGGTC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2551T>C	17.37:g.56389631A>G	ENSP00000345824:p.Trp851Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	233	0.10668498168498168	71	0.1443089430894309	24	0.06629834254143646	80	0.13986013986013987	58	0.07651715039577836	G	0.107	-1.144254	0.01728	0.143117	0.069865	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.03801	3.8;3.8;3.8	4.85	4.85	0.62838	Fibronectin, type III (2);	0.779586	0.12696	N	0.446731	T	0.00012	0.0000	N	0.00347	-1.61	0.58432	P	5.999999999950489E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34775	-0.9815	9	0.08837	T	0.75	.	7.5473	0.27775	0.0799:0.0:0.6493:0.2709	rs9905604;rs9905604	851;791;851	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	851;851;791	ENSP00000347929:W851R;ENSP00000345824:W851R;ENSP00000268893:W791R	ENSP00000268893:W791R	W	-	1	0	BZRAP1	53744630	0.083000	0.21467	0.895000	0.35142	0.758000	0.43043	1.008000	0.29872	1.189000	0.43028	-0.374000	0.07098	TGG	A|0.901;G|0.099	0.099	strong		0.672	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		G	56389631	A	G	56389631	3	3	22	1	0	0	0	0	1	0	0	0	1577	159	6	2	3082	2	BZRAP1	17	56389631	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1275	56389631	24805579	8936	14044										
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56389732	56389732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagccgtgtagctccactTgctcaggaggcggctcccag	14	13	1	0	rs9913145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56389732T>C	ENST00000343736.4	-	17	2613	c.2450A>G	c.(2449-2451)cAa>cGa	p.Q817R	BZRAP1_ENST00000355701.3_Missense_Mutation_p.Q817R|BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q757R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	817	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Q -> R (in dbSNP:rs9913145). {ECO:0000269|PubMed:9734811}.			cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGCTCCACTTGCTCAGGAGG	0.687													C|||	888	0.177316	0.2239	0.1225	5008	,	,		15864	0.25		0.1203	False		,,,				2504	0.137				p.Q817R		Atlas-SNP	.											.	BZRAP1	287	.	0			c.A2450G						PASS	.	C	ARG/GLN,ARG/GLN	930,3476	699.3+/-406.5	101,728,1374	24	24	24		2450,2270	1.2	0.2	17	dbSNP_119	24	976,7620	741.0+/-407.1	64,848,3386	yes	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	43,43	165,1576,4760	CC,CT,TT		11.3541,21.1076,14.6593	benign,benign	817/1858,757/1798	56389732	1906,11096	2203	4298	6501	SO:0001583	missense	9256	exon17			TCCACTTGCTCAG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2450A>G	17.37:g.56389732T>C	ENSP00000345824:p.Gln817Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	107	53	0.495327	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	360	0.16483516483516483	91	0.18495934959349594	39	0.10773480662983426	138	0.24125874125874125	92	0.12137203166226913	C	0.083	-1.180536	0.01633	0.211076	0.113541	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04119	3.7;3.7;3.7	4.33	1.25	0.21368	Fibronectin, type III (2);	0.192734	0.43110	N	0.000608	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48234	-0.9053	9	0.23302	T	0.38	.	5.1515	0.15011	0.0:0.4079:0.1574:0.4347	rs9913145;rs57932613;rs9913145	817;757;817	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	817;817;757	ENSP00000347929:Q817R;ENSP00000345824:Q817R;ENSP00000268893:Q757R	ENSP00000268893:Q757R	Q	-	2	0	BZRAP1	53744731	0.001000	0.12720	0.235000	0.24058	0.417000	0.31264	-0.112000	0.10791	-0.008000	0.14320	-0.355000	0.07637	CAA	T|0.850;C|0.150	0.150	strong		0.687	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		C	56389732	T	C	56389732	3	2	22	1	0	0	0	0	1	0	0	0	1577	1812	63	2	3183	2	BZRAP1	17	56389732	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	101	56389732	24805478	8937	14045										
RNF43	54894	hgsc.bcm.edu	37	chr17	56435080	56435080	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaaggatatgccacactgGgggtgtaatggggaaaaatc	13	7	0	0	rs9652855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56435080G>C	ENST00000584437.1	-	8	4012	c.2057C>G	c.(2056-2058)cCc>cGc	p.P686R	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.P645R|RNF43_ENST00000581868.1_Missense_Mutation_p.P559R|RNF43_ENST00000583753.1_Missense_Mutation_p.P645R|RNF43_ENST00000577716.1_Missense_Mutation_p.P686R|RNF43_ENST00000407977.2_Missense_Mutation_p.P686R|RNF43_ENST00000577625.1_Missense_Mutation_p.P559R			Q68DV7	RNF43_HUMAN	ring finger protein 43	686	Pro-rich.		P -> R (in dbSNP:rs9652855). {ECO:0000269|PubMed:17974005}.		negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCACACTGGGGGTGTAATG	0.622													G|||	392	0.0782748	0.1377	0.0548	5008	,	,		17838	0.0		0.1223	False		,,,				2504	0.0501				p.P686R		Atlas-SNP	.											RNF43,lower_third,carcinoma,+1,1	RNF43	157	1	0			c.C2057G						scavenged	.	G	ARG/PRO	521,3885	229.4+/-244.0	28,465,1710	90	103	98		2057	3.1	0	17	dbSNP_119	98	1082,7518	221.9+/-259.1	77,928,3295	yes	missense	RNF43	NM_017763.4	103	105,1393,5005	CC,CG,GG		12.5814,11.8248,12.3251	possibly-damaging	686/784	56435080	1603,11403	2203	4300	6503	SO:0001583	missense	54894	exon9			ACACTGGGGGTGT		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2057C>G	17.37:g.56435080G>C	ENSP00000463069:p.Pro686Arg	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	101	55	0.544554	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	174	0.07967032967032966	61	0.12398373983739837	25	0.06906077348066299	0	0.0	88	0.11609498680738786	G	9.516	1.107052	0.20714	0.118248	0.125814	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.18	3.1	0.35709	.	0.559581	0.16403	N	0.215931	T	0.00073	0.0002	L	0.32530	0.975	0.80722	P	0.0	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.002;0.007;0.001	T	0.15665	-1.0429	9	0.87932	D	0	-10.8686	8.1407	0.31082	0.0:0.1739:0.6457:0.1804	rs9652855;rs52806304;rs9652855	645;686;686	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	R	686;645	ENSP00000385328:P686R;ENSP00000441969:P645R	ENSP00000385328:P686R	P	-	2	0	RNF43	53790079	0.034000	0.19679	0.016000	0.15963	0.738000	0.42128	2.033000	0.41136	0.699000	0.31761	0.511000	0.50034	CCC	G|0.886;C|0.114	0.114	strong		0.622	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		C	56435080	G	C	56435080	3	2	22	1	0	0	0	0	1	0	0	0	13495	1232	43	4	302	4	RNF43	17	56435080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45348	56435080	24760130	8938	14046										
MTMR4	9110	hgsc.bcm.edu	37	chr17	56584508	56584508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagcatcacacgcctcgcTggtatcattattcccggtgc	9	14	3	0	rs2302190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56584508T>C	ENST00000323456.5	-	9	962	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	MTMR4_ENST00000579925.1_Missense_Mutation_p.S280G	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	280	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		S -> G (in dbSNP:rs2302190). {ECO:0000269|PubMed:15489334}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACGCCTCGCTGGTATCATTA	0.602													T|||	1643	0.328075	0.4652	0.1398	5008	,	,		19038	0.3214		0.2187	False		,,,				2504	0.3957				p.S280G		Atlas-SNP	.											.	MTMR4	91	.	0			c.A838G						PASS	.	T	GLY/SER	1840,2566	531.5+/-373.2	401,1038,764	64	66	65		838	4.1	0.9	17	dbSNP_100	65	1750,6850	314.5+/-311.8	190,1370,2740	yes	missense	MTMR4	NM_004687.4	56	591,2408,3504	CC,CT,TT		20.3488,41.7612,27.6026	benign	280/1196	56584508	3590,9416	2203	4300	6503	SO:0001583	missense	9110	exon9			CCTCGCTGGTATC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.838A>G	17.37:g.56584508T>C	ENSP00000325285:p.Ser280Gly	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	148	60	0.405405	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	602	0.27564102564102566	215	0.4369918699186992	58	0.16022099447513813	166	0.2902097902097902	163	0.21503957783641162	T	7.155	0.584622	0.13749	0.417612	0.203488	ENSG00000108389	ENST00000323456	D	0.93604	-3.25	5.19	4.09	0.47781	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.185631	0.64402	D	0.000017	T	0.00012	0.0000	N	0.08118	0	0.44956	P	0.0020259999999999723	B	0.02656	0.0	B	0.10450	0.005	T	0.12167	-1.0558	9	0.11794	T	0.64	.	10.7076	0.45965	0.0:0.0762:0.0:0.9238	rs2302190;rs17853448;rs52820040;rs56508278;rs58284955;rs2302190	280	Q9NYA4	MTMR4_HUMAN	G	280	ENSP00000325285:S280G	ENSP00000325285:S280G	S	-	1	0	MTMR4	53939507	0.990000	0.36364	0.863000	0.33907	0.996000	0.88848	1.581000	0.36558	0.914000	0.36822	0.524000	0.50904	AGC	T|0.709;C|0.291	0.291	strong		0.602	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		C	56584508	T	C	56584508	3	2	22	1	0	0	0	0	1	0	0	0	9946	1580	55	3	2793	3	MTMR4	17	56584508	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	149428	56584508	24610702	8939	14047										
TEX14	56155	hgsc.bcm.edu	37	chr17	56636908	56636908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcaccaactttttgatcTttgatatttgtctccctgta	4	10	4	2	rs9903050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56636908T>C	ENST00000240361.8	-	31	4396	c.4311A>G	c.(4309-4311)aaA>aaG	p.K1437K	TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Silent_p.K1391K|RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000389934.3_Silent_p.K1431K|RP11-112H10.4_ENST00000580589.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1437					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTTTTGATCTTTGATATTTG	0.363													T|||	1385	0.276558	0.3359	0.1182	5008	,	,		19276	0.3036		0.1978	False		,,,				2504	0.362				p.K1437K		Atlas-SNP	.											.	TEX14	343	.	0			c.A4311G						PASS	.	T	,,	1296,3110	431.4+/-342.9	182,932,1089	201	195	197		4311,4173,4293	-0.6	0.9	17	dbSNP_119	197	1587,7013	283.9+/-296.4	161,1265,2874	no	coding-synonymous,coding-synonymous,coding-synonymous	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	343,2197,3963	CC,CT,TT		18.4535,29.4144,22.1667	,,	1437/1498,1391/1452,1431/1492	56636908	2883,10123	2203	4300	6503	SO:0001819	synonymous_variant	56155	exon31			TTGATCTTTGATA	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4311A>G	17.37:g.56636908T>C		Somatic	497	0	0		WXS	Illumina HiSeq	Phase_I	505	267	0.528713	NM_001201457	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																			T|0.759;C|0.241	0.241	strong		0.363	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			C	56636908	T	C	56636908	2	2	22	1	0	0	0	0	0	0	0	1	15775	1606	56	3		3	TEX14	17	56636908	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	52400	56636908	24558302	8940	14048										
TEX14	56155	hgsc.bcm.edu	37	chr17	56690848	56690848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacacaaggcgggttttctcTaggtcctgggagagacacac	12	10	1	1	rs8077548	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:56690848T>C	ENST00000240361.8	-	9	1042	c.957A>G	c.(955-957)ctA>ctG	p.L319L	TEX14_ENST00000349033.5_Silent_p.L313L|TEX14_ENST00000389934.3_Silent_p.L313L			Q8IWB6	TEX14_HUMAN	testis expressed 14	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.L313L(1)|p.L319L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTTTTCTCTAGGTCCTGGG	0.502													T|||	1169	0.233427	0.3328	0.0663	5008	,	,		17596	0.3036		0.0726	False		,,,				2504	0.3108				p.L319L		Atlas-SNP	.											TEX14_ENST00000240361,NS,carcinoma,0,2	TEX14	343	2	2	Substitution - coding silent(2)	stomach(2)	c.A957G						scavenged	.	T	,,	1205,3201	421.5+/-339.4	161,883,1159	162	139	147		957,939,939	2.5	1	17	dbSNP_116	147	564,8036	152.7+/-207.2	19,526,3755	no	coding-synonymous,coding-synonymous,coding-synonymous	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	180,1409,4914	CC,CT,TT		6.5581,27.3491,13.6014	,,	319/1498,313/1452,313/1492	56690848	1769,11237	2203	4300	6503	SO:0001819	synonymous_variant	56155	exon9			TTTCTCTAGGTCC	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.957A>G	17.37:g.56690848T>C		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	149	68	0.456376	NM_001201457	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																			T|0.835;C|0.165	0.165	strong		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			C	56690848	T	C	56690848	2	2	22	1	0	0	0	0	0	0	0	1	15775	1509	53	3		3	TEX14	17	56690848	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53940	56690848	24504362	8941	14049										
C17orf71	55181	hgsc.bcm.edu	37	chr17	57288251	57288251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctcaaggtagaacctcCtcggaaccaagacccagctc	8	16	1	2	rs8068240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:57288251C>T	ENST00000543872.2	+	2	1103	c.839C>T	c.(838-840)cCt>cTt	p.P280L	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.P280L|SMG8_ENST00000578922.1_Missense_Mutation_p.P280L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	280			P -> L (in dbSNP:rs8068240).		gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTAGAACCTCCTCGGAACCAA	0.517													C|||	134	0.0267572	0.093	0.0159	5008	,	,		20461	0.0		0.0	False		,,,				2504	0.0				p.P280L		Atlas-SNP	.											.	SMG8	79	.	0			c.C839T						PASS	.	C	LEU/PRO	414,3992	199.4+/-223.0	25,364,1814	69	77	74		839	5.9	1	17	dbSNP_116	74	9,8591	7.1+/-27.0	0,9,4291	yes	missense	SMG8	NM_018149.6	98	25,373,6105	TT,TC,CC		0.1047,9.3963,3.2523	benign	280/992	57288251	423,12583	2203	4300	6503	SO:0001583	missense	55181	exon1			AACCTCCTCGGAA	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.839C>T	17.37:g.57288251C>T	ENSP00000438748:p.Pro280Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	104	44	0.423077	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	45	0.020604395604395604	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	0	0.0	C	11.98	1.801825	0.31869	0.093963	0.001047	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44881	0.91;0.91	5.88	5.88	0.94601	.	0.385695	0.31210	N	0.008044	T	0.01029	0.0034	N	0.14661	0.345	0.41054	D	0.985328	B	0.09022	0.002	B	0.12156	0.007	T	0.01235	-1.1410	10	0.66056	D	0.02	-9.762	12.6648	0.56835	0.0:0.9223:0.0:0.0777	rs8068240;rs52805280;rs56931279;rs8068240	280	Q8ND04	SMG8_HUMAN	L	280	ENSP00000300917:P280L;ENSP00000438748:P280L	ENSP00000300917:P280L	P	+	2	0	SMG8	54643033	0.003000	0.15002	1.000000	0.80357	0.939000	0.58152	0.955000	0.29188	2.769000	0.95229	0.655000	0.94253	CCT	C|0.967;T|0.033	0.033	strong		0.517	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		T	57288251	C	T	57288251	3	4	22	1	0	0	0	0	1	0	0	0	1878	681	24	2	841	2	C17orf71	17	57288251	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	597403	57288251	23906959	8942	14050										
DHX40	79665	hgsc.bcm.edu	37	chr17	57652789	57652789	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgttcaagataccaccctCgatggcttgttaatattgcc	8	10	1	1	rs77178464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:57652789C>T	ENST00000251241.4	+	7	1077	c.930C>T	c.(928-930)ctC>ctT	p.L310L	DHX40_ENST00000451169.2_Silent_p.L211L|DHX40_ENST00000425628.3_Silent_p.L233L	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	310	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATACCACCCTCGATGGCTTGT	0.303													C|||	263	0.052516	0.1914	0.013	5008	,	,		16582	0.001		0.0	False		,,,				2504	0.0				p.L310L		Atlas-SNP	.											.	DHX40	40	.	0			c.C930T						PASS	.	C	,	569,3837	254.3+/-259.9	34,501,1668	112	107	109		699,930	-4.6	1	17	dbSNP_131	109	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DHX40	NM_001166301.1,NM_024612.4	,	34,501,5967	TT,TC,CC		0.0,12.9142,4.3756	,	233/703,310/780	57652789	569,12435	2203	4299	6502	SO:0001819	synonymous_variant	79665	exon7			CACCCTCGATGGC	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.930C>T	17.37:g.57652789C>T		Somatic	392	1	0.00255102		WXS	Illumina HiSeq	Phase_I	386	201	0.520725	NM_024612	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																			C|0.957;T|0.043	0.043	strong		0.303	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		T	57652789	C	T	57652789	2	4	22	1	0	0	0	0	0	0	0	1	4512	871	31	1		1	DHX40	17	57652789	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	364538	57652789	23542421	8943	14051										
C17orf64	124773	hgsc.bcm.edu	37	chr17	58506748	58506748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgcgcctcggatgcgcCggagaggtccttgctggccg	15	13	1	1	rs57928695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:58506748C>T	ENST00000269127.4	+	5	539	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	152										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TCGGATGCGCCGGAGAGGTCC	0.607													C|||	710	0.141773	0.5068	0.0519	5008	,	,		18332	0.0		0.004	False		,,,				2504	0.0				p.P152L		Atlas-SNP	.											.	C17orf64	19	.	0			c.C455T						PASS	.	C	LEU/PRO	1696,2710	493.1+/-362.6	345,1006,852	34	36	35		455	1.6	0	17	dbSNP_129	35	14,8586	9.8+/-36.6	0,14,4286	yes	missense	C17orf64	NM_181707.2	98	345,1020,5138	TT,TC,CC		0.1628,38.493,13.1478	probably-damaging	152/237	58506748	1710,11296	2203	4300	6503	SO:0001583	missense	124773	exon5			ATGCGCCGGAGAG	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.455C>T	17.37:g.58506748C>T	ENSP00000269127:p.Pro152Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	147	75	0.510204	NM_181707	Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	255	0.11675824175824176	237	0.4817073170731707	15	0.04143646408839779	0	0.0	3	0.00395778364116095	C	9.889	1.203580	0.22121	0.38493	0.001628	ENSG00000141371	ENST00000269127	.	.	.	4.82	1.65	0.23941	.	0.420949	0.20436	N	0.092377	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.35201	-0.9798	8	0.51188	T	0.08	-4.574	4.2009	0.10466	0.1819:0.6217:0.0:0.1964	rs57928695;rs61745732	152	Q86WR6	CQ064_HUMAN	L	152	.	ENSP00000269127:P152L	P	+	2	0	C17orf64	55861530	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.833000	0.04396	0.094000	0.17404	0.561000	0.74099	CCG	C|0.882;T|0.118	0.118	strong		0.607	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		T	58506748	C	T	58506748	3	4	22	1	0	0	0	0	1	0	0	0	1872	652	23	1	473	1	C17orf64	17	58506748	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	853959	58506748	22688462	8944	14052										
C17orf64	124773	hgsc.bcm.edu	37	chr17	58506785	58506785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgaccgggaagacagtctGcccaagctctgccatgcatg	12	14	2	1	rs9913666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:58506785G>T	ENST00000269127.4	+	5	576	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	164										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			AAGACAGTCTGCCCAAGCTCT	0.622													G|||	541	0.108027	0.3858	0.0418	5008	,	,		17929	0.0		0.002	False		,,,				2504	0.0				p.L164L		Atlas-SNP	.											.	C17orf64	19	.	0			c.G492T						PASS	.	G		1342,3064	443.9+/-347.2	217,908,1078	47	47	47		492	1.7	1	17	dbSNP_119	47	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	C17orf64	NM_181707.2		217,922,5364	TT,TG,GG		0.1628,30.4585,10.426		164/237	58506785	1356,11650	2203	4300	6503	SO:0001819	synonymous_variant	124773	exon5			CAGTCTGCCCAAG	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.492G>T	17.37:g.58506785G>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	127	62	0.488189	NM_181707	Q8IY87	Silent	SNP	ENST00000269127.4	37	CCDS32698.2																																																																																			G|0.912;T|0.088	0.088	strong		0.622	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		T	58506785	G	T	58506785	2	4	22	1	0	0	0	0	0	0	0	1	1872	1306	46	4		4	C17orf64	17	58506785	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37	58506785	22688425	8945	14053										
C17orf64	124773	hgsc.bcm.edu	37	chr17	58508618	58508618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccagaaactccagagacTgaaccgtaagaagaccaact	8	13	0	5	rs3760332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:58508618T>C	ENST00000269127.4	+	6	786	c.702T>C	c.(700-702)acT>acC	p.T234T	RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	234										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CTCCAGAGACTGAACCGTAAG	0.458													C|||	1541	0.307708	0.8608	0.1023	5008	,	,		17422	0.1716		0.0765	False		,,,				2504	0.0838				p.T234T		Atlas-SNP	.											.	C17orf64	19	.	0			c.T702C						PASS	.	C		3104,1302		1120,864,219	43	55	51		702	-1.2	0	17	dbSNP_107	51	774,7826		30,714,3556	no	coding-synonymous	C17orf64	NM_181707.2		1150,1578,3775	CC,CT,TT		9.0,29.5506,29.817		234/237	58508618	3878,9128	2203	4300	6503	SO:0001819	synonymous_variant	124773	exon6			AGAGACTGAACCG	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.702T>C	17.37:g.58508618T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	63	22	0.349206	NM_181707	Q8IY87	Silent	SNP	ENST00000269127.4	37	CCDS32698.2																																																																																			T|0.702;C|0.298	0.298	strong		0.458	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		C	58508618	T	C	58508618	2	2	22	1	0	0	0	0	0	0	0	1	1872	1567	55	3		3	C17orf64	17	58508618	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1833	58508618	22686592	8946	14054										
APPBP2	10513	hgsc.bcm.edu	37	chr17	58603185	58603185	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatcaaactggatgttctcGggcaaggagcggatgtctcg	13	9	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:58603185G>C	ENST00000083182.3	-	1	395	c.108C>G	c.(106-108)ccC>ccG	p.P36P	RP11-15E18.1_ENST00000558027.1_RNA|RP11-15E18.1_ENST00000559739.1_RNA	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	36					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGATGTTCTCGGGCAAGGAGC	0.602																																					p.P36P		Atlas-SNP	.											.	APPBP2	48	.	0			c.C108G						PASS	.						136	110	119					17																	58603185		2203	4300	6503	SO:0001819	synonymous_variant	10513	exon1			GTTCTCGGGCAAG	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.108C>G	17.37:g.58603185G>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	134	73	0.544776	NM_006380	A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	CCDS32699.1																																																																																			.	.	none		0.602	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		C	58603185	G	C	58603185	2	2	22	1	0	0	0	0	0	0	0	1	816	1103	39	4		4	APPBP2	17	58603185	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94567	58603185	22592025	8947	14055										
C17orf82	388407	hgsc.bcm.edu	37	chr17	59489787	59489787	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccagcgctgacggccgcGcctggtttcccagcgagtcc	12	16	0	1	rs58036240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:59489787G>C	ENST00000335108.2	+	1	676	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	151										cervix(1)|lung(1)	2						TGACGGCCGCGCCTGGTTTCC	0.682											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	529	0.105631	0.3343	0.0403	5008	,	,		13249	0.0486		0.0	False		,,,				2504	0.0102				p.A151P		Atlas-SNP	.											.	C17orf82	16	.	0			c.G451C						PASS	.	G	PRO/ALA	962,3398		105,752,1323	10	14	13		451	-1	0	17	dbSNP_129	13	5,8567		0,5,4281	yes	missense	C17orf82	NM_203425.1	27	105,757,5604	CC,CG,GG		0.0583,22.0642,7.4776	benign	151/252	59489787	967,11965	2180	4286	6466	SO:0001583	missense	388407	exon1			GGCCGCGCCTGGT	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.451G>C	17.37:g.59489787G>C	ENSP00000335229:p.Ala151Pro	Somatic	45	0	0	1038	WXS	Illumina HiSeq	Phase_I	66	31	0.469697	NM_203425		Missense_Mutation	SNP	ENST00000335108.2	37	CCDS11628.1	169	0.07738095238095238	126	0.25609756097560976	19	0.052486187845303865	24	0.04195804195804196	0	0.0	G	13.49	2.252399	0.39797	0.220642	5.83E-4	ENSG00000187013	ENST00000335108	T	0.55930	0.49	3.85	-0.977	0.10282	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.21381	0.055	B	0.22753	0.041	T	0.21965	-1.0230	8	0.87932	D	0	.	3.7563	0.08586	0.0973:0.3496:0.414:0.1391	rs58036240	151	Q86X59	CQ082_HUMAN	P	151	ENSP00000335229:A151P	ENSP00000335229:A151P	A	+	1	0	C17orf82	56844569	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.694000	0.01915	-0.227000	0.09884	-0.537000	0.04273	GCC	G|0.930;C|0.070	0.070	strong		0.682	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		C	59489787	G	C	59489787	3	2	22	1	0	0	0	0	1	0	0	0	1887	1087	38	4	453	4	C17orf82	17	59489787	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	886602	59489787	21705423	8948	14056										
TBX4	9496	hgsc.bcm.edu	37	chr17	59557600	59557600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcacactcacagctcgCggagccgcaggacctgcccc	13	18	1	0	rs3744438	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:59557600C>T	ENST00000240335.1	+	7	986	c.941C>T	c.(940-942)gCg>gTg	p.A314V	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.A314V	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	314			A -> V (in dbSNP:rs3744438).		angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCACAGCTCGCGGAGCCGCAG	0.647													C|||	1068	0.213259	0.4402	0.134	5008	,	,		13484	0.1111		0.1213	False		,,,				2504	0.1626				p.A314V		Atlas-SNP	.											TBX4,mouth,carcinoma,-1,1	TBX4	69	1	0			c.C941T						PASS	.	C	VAL/ALA	1822,2584	528.6+/-372.4	381,1060,762	61	55	57		941	5.8	0	17	dbSNP_107	57	1070,7530	222.2+/-259.3	66,938,3296	yes	missense	TBX4	NM_018488.2	64	447,1998,4058	TT,TC,CC		12.4419,41.3527,22.2359	possibly-damaging	314/546	59557600	2892,10114	2203	4300	6503	SO:0001583	missense	9496	exon7			AGCTCGCGGAGCC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.941C>T	17.37:g.59557600C>T	ENSP00000240335:p.Ala314Val	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	99	95	0.959596	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	374	0.17124542124542125	190	0.3861788617886179	43	0.11878453038674033	63	0.11013986013986014	78	0.10290237467018469	C	14.31	2.496648	0.44352	0.413527	0.124419	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.81499	-1.5;-1.5	5.84	5.84	0.93424	.	0.374762	0.29876	N	0.010974	T	0.00012	0.0000	L	0.36672	1.1	0.45979	P	0.0012090000000000156	P;P	0.46020	0.871;0.85	B;B	0.35240	0.198;0.041	T	0.25152	-1.0140	8	.	.	.	.	19.1261	0.93384	0.0:1.0:0.0:0.0	rs3744438;rs57055977;rs3744438	314;314	A5PKU7;P57082	.;TBX4_HUMAN	V	314	ENSP00000377435:A314V;ENSP00000240335:A314V	.	A	+	2	0	TBX4	56912382	0.289000	0.24334	0.011000	0.14972	0.022000	0.10575	4.496000	0.60360	2.779000	0.95612	0.655000	0.94253	GCG	C|0.789;T|0.211	0.211	strong		0.647	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		T	59557600	C	T	59557600	3	4	22	1	0	0	0	0	1	0	0	0	15657	768	27	1	967	1	TBX4	17	59557600	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	67813	59557600	21637610	8949	14057										
NACA2	342538	hgsc.bcm.edu	37	chr17	59668275	59668275	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagtgactctagtaactccTgtaacctgtagaagacccag	8	10	1	3	rs61739271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:59668275T>A	ENST00000521764.1	-	1	288	c.267A>T	c.(265-267)acA>acT	p.T89T		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	89	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TAGTAACTCCTGTAACCTGTA	0.443													T|||	198	0.0395367	0.1415	0.0144	5008	,	,		21980	0.0		0.001	False		,,,				2504	0.0				p.T89T		Atlas-SNP	.											.	NACA2	33	.	0			c.A267T						PASS	.	T		554,3852	249.6+/-257.0	38,478,1687	231	226	228		267	0.8	1	17	dbSNP_129	228	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NACA2	NM_199290.3		38,480,5985	AA,AT,TT		0.0233,12.5738,4.275		89/216	59668275	556,12450	2203	4300	6503	SO:0001819	synonymous_variant	342538	exon1			AACTCCTGTAACC	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.267A>T	17.37:g.59668275T>A		Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	257	134	0.521401	NM_199290	Q2VIR9	Silent	SNP	ENST00000521764.1	37	CCDS11630.1																																																																																			T|0.957;A|0.043	0.043	strong		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		A	59668275	T	A	59668275	2	1	22	1	0	0	0	0	0	0	0	1	10134	1567	55	5		5	NACA2	17	59668275	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110675	59668275	21526935	8950	14058										
MED13	9969	hgsc.bcm.edu	37	chr17	60040329	60040329	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccactttatcccgatccatCgtgctaaaatttaaggtaga	6	11	0	1	rs2278812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:60040329C>T	ENST00000397786.2	-	21	4924	c.4848G>A	c.(4846-4848)acG>acA	p.T1616T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1616					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCGATCCATCGTGCTAAAAT	0.398													C|||	1427	0.284944	0.3828	0.2046	5008	,	,		16521	0.5248		0.1223	False		,,,				2504	0.1299				p.T1616T		Atlas-SNP	.											MED13,colon,carcinoma,0,1	MED13	181	1	0			c.G4848A						PASS	.	C		1233,2471		201,831,820	69	67	68		4848	-10.9	0.3	17	dbSNP_100	68	962,7234		62,838,3198	no	coding-synonymous	MED13	NM_005121.2		263,1669,4018	TT,TC,CC		11.7374,33.2883,18.4454		1616/2175	60040329	2195,9705	1852	4098	5950	SO:0001819	synonymous_variant	9969	exon21			ATCCATCGTGCTA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4848G>A	17.37:g.60040329C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	52	26	0.5	NM_005121	B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																			C|0.741;T|0.259	0.259	strong		0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60040329	C	T	60040329	2	4	22	1	0	0	0	0	0	0	0	1	9430	871	31	1		1	MED13	17	60040329	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	372054	60040329	21154881	8951	14059										
MED13	9969	hgsc.bcm.edu	37	chr17	60087932	60087932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtaactgatgttacacttTcctgtccaaaaggtccaact	6	11	0	1	rs114223275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:60087932T>C	ENST00000397786.2	-	9	2022	c.1946A>G	c.(1945-1947)gAa>gGa	p.E649G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	649					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTACACTTTCCTGTCCAAA	0.333													T|||	7	0.00139776	0.0053	0.0	5008	,	,		20038	0.0		0.0	False		,,,				2504	0.0				p.E649G		Atlas-SNP	.											.	MED13	181	.	0			c.A1946G						PASS	.	T	GLY/GLU	11,3675		0,11,1832	67	60	62		1946	5.6	1	17	dbSNP_132	62	0,8172		0,0,4086	yes	missense	MED13	NM_005121.2	98	0,11,5918	CC,CT,TT		0.0,0.2984,0.0928	probably-damaging	649/2175	60087932	11,11847	1843	4086	5929	SO:0001583	missense	9969	exon9			ACACTTTCCTGTC	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1946A>G	17.37:g.60087932T>C	ENSP00000380888:p.Glu649Gly	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.76	2.033391	0.35893	0.002984	0.0	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75367	-0.93	5.62	5.62	0.85841	.	0.156711	0.44483	D	0.000448	T	0.74604	0.3738	L	0.46157	1.445	0.58432	D	0.999998	P;B	0.44139	0.827;0.181	P;B	0.46758	0.526;0.014	T	0.75639	-0.3248	10	0.46703	T	0.11	-17.8348	15.804	0.78477	0.0:0.0:0.0:1.0	.	162;649	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	G	649;648	ENSP00000380888:E649G	ENSP00000262436:E648G	E	-	2	0	MED13	57442714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.998000	0.63927	2.131000	0.65755	0.477000	0.44152	GAA	T|0.999;C|0.001	0.001	strong		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		C	60087932	T	C	60087932	3	2	22	1	0	0	0	0	1	0	0	0	9430	1783	62	2	4666	2	MED13	17	60087932	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47603	60087932	21107278	8952	14060										
EFCAB3	146779	hgsc.bcm.edu	37	chr17	60451185	60451185	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttttacaggaaatggaaaGattaatgttaattcaataat	7	2	1	1	rs6504103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:60451185G>C	ENST00000450662.2	+	2	116	c.45G>C	c.(43-45)aaG>aaC	p.K15N		NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	0							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GAAATGGAAAGATTAATGTTA	0.254													G|||	123	0.0245607	0.0908	0.0029	5008	,	,		14237	0.0		0.001	False		,,,				2504	0.0				p.K15N		Atlas-SNP	.											.	EFCAB3	71	.	0			c.G45C						PASS	.						46	41	43					17																	60451185		692	1584	2276	SO:0001583	missense	146779	exon2			TGGAAAGATTAAT	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000450662.2:c.45G>C	17.37:g.60451185G>C	ENSP00000403932:p.Lys15Asn	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	145	71	0.489655	NM_001144933	J3KQM8	Missense_Mutation	SNP	ENST00000450662.2	37	CCDS45751.1	38	0.0173992673992674	37	0.07520325203252033	0	0.0	0	0.0	1	0.0013192612137203166	.	8.466	0.856348	0.17106	.	.	ENSG00000172421	ENST00000450662	T	0.10668	2.85	4.0	0.787	0.18596	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.42155	-0.9468	6	0.32370	T	0.25	.	5.523	0.16943	0.3862:0.0:0.6138:0.0	rs6504103;rs6504103	.	.	.	N	15	ENSP00000403932:K15N	ENSP00000403932:K15N	K	+	3	2	EFCAB3	57804917	0.869000	0.29996	0.031000	0.17742	0.003000	0.03518	0.480000	0.22244	0.396000	0.25283	0.591000	0.81541	AAG	G|0.983;C|0.017	0.017	strong		0.254	EFCAB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379315.1	NM_173503		C	60451185	G	C	60451185	3	2	22	1	0	0	0	0	1	0	0	0	4935	933	33	4	51	4	EFCAB3	17	60451185	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	363253	60451185	20744025	8953	14061										
MRC2	9902	hgsc.bcm.edu	37	chr17	60767303	60767303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagccgctgaactacgtgGgctggcaggacggggagccg	19	10	0	1	rs77299955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:60767303G>A	ENST00000303375.5	+	25	4024	c.3622G>A	c.(3622-3624)Ggc>Agc	p.G1208S	MRC2_ENST00000446119.2_Missense_Mutation_p.G74S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1208	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAACTACGTGGGCTGGCAGGA	0.677													G|||	39	0.00778754	0.0287	0.0014	5008	,	,		12596	0.0		0.0	False		,,,				2504	0.0				p.G1208S		Atlas-SNP	.											.	MRC2	126	.	0			c.G3622A						PASS	.	G	SER/GLY	95,4295		0,95,2100	13	16	15		3622	1.8	0.2	17	dbSNP_131	15	1,8567		0,1,4283	yes	missense	MRC2	NM_006039.3	56	0,96,6383	AA,AG,GG		0.0117,2.164,0.7409	benign	1208/1480	60767303	96,12862	2195	4284	6479	SO:0001583	missense	9902	exon25			TACGTGGGCTGGC	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3622G>A	17.37:g.60767303G>A	ENSP00000307513:p.Gly1208Ser	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	G	11.35	1.614242	0.28712	0.02164	1.17E-4	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.53423	0.62;0.62	5.16	1.8	0.24995	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.232107	0.49916	N	0.000124	T	0.08133	0.0203	N	0.08118	0	0.23478	N	0.997599	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.13072	-1.0523	10	0.18276	T	0.48	-17.6713	8.5553	0.33478	0.7771:0.0:0.2229:0.0	.	74;1208	E7EME3;Q9UBG0	.;MRC2_HUMAN	S	1208;74	ENSP00000307513:G1208S;ENSP00000400445:G74S	ENSP00000307513:G1208S	G	+	1	0	MRC2	58121035	0.920000	0.31207	0.177000	0.23020	0.707000	0.40811	1.980000	0.40618	0.124000	0.18369	-0.367000	0.07326	GGC	G|0.991;A|0.009	0.009	strong		0.677	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60767303	G	A	60767303	3	1	22	1	0	0	0	0	1	0	0	0	9758	1232	43	2	3720	2	MRC2	17	60767303	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	316118	60767303	20427907	8954	14062										
MARCH10	162333	hgsc.bcm.edu	37	chr17	60813954	60813954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggcctatgttccacagaAatacaatcactccatacatt	4	13	1	1	rs8068372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:60813954A>G	ENST00000311269.5	-	6	1549	c.1275T>C	c.(1273-1275)atT>atC	p.I425I	MARCH10_ENST00000544856.2_Silent_p.I424I|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.I425I|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Silent_p.I463I|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	425					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTTCCACAGAAATACAATCAC	0.428													A|||	278	0.0555112	0.2057	0.0072	5008	,	,		20942	0.0		0.001	False		,,,				2504	0.0				p.I425I		Atlas-SNP	.											.	MARCH10	102	.	0			c.T1275C						PASS	.	A	,	645,3761	274.6+/-272.0	43,559,1601	87	79	82		1275,1275	-0.7	0	17	dbSNP_116	82	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	MARCH10	NM_001100875.1,NM_152598.2	,	43,565,5895	GG,GA,AA		0.0698,14.6391,5.0054	,	425/809,425/809	60813954	651,12355	2203	4300	6503	SO:0001819	synonymous_variant	162333	exon6			CACAGAAATACAA	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1275T>C	17.37:g.60813954A>G		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	163	71	0.435583	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																			A|0.952;G|0.048	0.048	strong		0.428	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		G	60813954	A	G	60813954	2	3	22	1	0	0	0	0	0	0	0	1	9299	10	1	2		2	MARCH10	17	60813954	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46651	60813954	20381256	8955	14063										
CYB561	1534	hgsc.bcm.edu	37	chr17	61513509	61513509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagacacggtaaaccagCagggctgtgggaggtgagag	17	7	0	3	rs35447397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61513509C>T	ENST00000392976.1	-	3	506	c.207G>A	c.(205-207)ctG>ctA	p.L69L	CYB561_ENST00000542042.1_Silent_p.L136L|CYB561_ENST00000584031.1_Silent_p.L69L|CYB561_ENST00000392975.2_Silent_p.L69L|CYB561_ENST00000582297.1_Silent_p.L69L|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Silent_p.L69L|CYB561_ENST00000582034.1_Silent_p.L40L|CYB561_ENST00000360793.3_Silent_p.L69L|CYB561_ENST00000448884.2_Silent_p.L69L|CYB561_ENST00000582997.1_Silent_p.L76L	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	69	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGTAAACCAGCAGGGCTGTGG	0.607													C|||	41	0.0081869	0.031	0.0	5008	,	,		17487	0.0		0.0	False		,,,				2504	0.0				p.L69L		Atlas-SNP	.											.	CYB561	15	.	0			c.G207A						PASS	.	C	,,	114,4290	87.8+/-126.4	1,112,2089	128	94	106		207,207,207	3.9	1	17	dbSNP_126	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CYB561	NM_001017916.1,NM_001017917.1,NM_001915.3	,,	1,112,6389	TT,TC,CC		0.0,2.5886,0.8767	,,	69/252,69/252,69/252	61513509	114,12890	2202	4300	6502	SO:0001819	synonymous_variant	1534	exon3			AACCAGCAGGGCT		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.207G>A	17.37:g.61513509C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_001915	B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	CCDS11636.1																																																																																			C|0.989;T|0.011	0.011	strong		0.607	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		T	61513509	C	T	61513509	2	4	22	1	0	0	0	0	0	0	0	1	4119	697	25	2		2	CYB561	17	61513509	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	699555	61513509	19681701	8956	14064										
ACE	1636	hgsc.bcm.edu	37	chr17	61557200	61557200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgggagggctggcacaaCgctgcgggcatcccgctgaa	16	13	0	1	rs4298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61557200C>T	ENST00000290866.4	+	4	606	c.582C>T	c.(580-582)aaC>aaT	p.N194N	ACE_ENST00000538928.1_Silent_p.N194N|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.N194N	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	194	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGGCACAACGCTGCGGGCA	0.607													C|||	723	0.144369	0.4039	0.0807	5008	,	,		21461	0.0099		0.0835	False		,,,				2504	0.0399				p.N194N		Atlas-SNP	.											.	ACE	187	.	0			c.C582T						PASS	.	C		1486,2920	476.3+/-357.6	242,1002,959	109	78	88		582	-4.8	0	17	dbSNP_36	88	638,7962	163.6+/-216.1	18,602,3680	no	coding-synonymous	ACE	NM_000789.3		260,1604,4639	TT,TC,CC		7.4186,33.7267,16.3309		194/1307	61557200	2124,10882	2203	4300	6503	SO:0001819	synonymous_variant	1636	exon4			GCACAACGCTGCG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.582C>T	17.37:g.61557200C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	52	21	0.403846	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	CCDS11637.1																																																																																			C|0.850;T|0.150	0.150	strong		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			T	61557200	C	T	61557200	2	4	22	1	0	0	0	0	0	0	0	1	136	535	19	1		1	ACE	17	61557200	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43691	61557200	19638010	8957	14065										
STRADA	92335	hgsc.bcm.edu	37	chr17	61787892	61787892	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatgtagtcgagggccttCagcaccccctgcaggatgta	13	11	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61787892C>T	ENST00000336174.6	-	8	652	c.540G>A	c.(538-540)ctG>ctA	p.L180L	STRADA_ENST00000579340.1_Silent_p.L122L|STRADA_ENST00000245865.5_Silent_p.L122L|STRADA_ENST00000582137.1_Silent_p.L151L|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000447001.3_Silent_p.L136L|STRADA_ENST00000375840.4_Silent_p.L122L|STRADA_ENST00000392950.4_Silent_p.L143L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CGAGGGCCTTCAGCACCCCCT	0.512																																					p.L180L		Atlas-SNP	.											.	STRADA	27	.	0			c.G540A						PASS	.						109	90	97					17																	61787892		2203	4300	6503	SO:0001819	synonymous_variant	92335	exon8			GGCCTTCAGCACC	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.540G>A	17.37:g.61787892C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_001003787	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	CCDS32703.1																																																																																			.	.	none		0.512	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			T	61787892	C	T	61787892	2	4	22	1	0	0	0	0	0	0	0	1	15323	813	29	2		2	STRADA	17	61787892	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	230692	61787892	19407318	8958	14066										
FTSJ3	5705	hgsc.bcm.edu	37	chr17	61902011	61902011	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatacctgagctccttgcgCcccaacactctgatgtcctg	7	17	1	2	rs9910549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61902011C>T	ENST00000310144.6	+	0	0				PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.G301G	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCTCCTTGCGCCCCAACACTC	0.562													C|||	99	0.0197684	0.0734	0.0029	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.0				p.G301G		Atlas-SNP	.											.	FTSJ3	63	.	0			c.G903A						PASS	.	C		211,4195	130.2+/-166.9	6,199,1998	191	171	178		903	0.5	1	17	dbSNP_119	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FTSJ3	NM_017647.3		6,201,6296	TT,TC,CC		0.0233,4.7889,1.6377		301/848	61902011	213,12793	2203	4300	6503	SO:0001631	upstream_gene_variant	117246	exon10			CTTGCGCCCCAAC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902011C>T	Exception_encountered	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	207	103	0.497585	NM_017647	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			C|0.976;T|0.024	0.024	strong		0.562	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		T	61902011	C	T	61902011	1	4	22	0	1	0	0	0	0	0	0	0	6089	726	26	2		2	FTSJ3	17	61902011	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	114119	61902011	19293199	8959	14067										
CSH2	1443	hgsc.bcm.edu	37	chr17	61950694	61950694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccaggagcagggacgtccGggagcctggggagaaaccgg	19	10	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61950694G>A	ENST00000392886.2	-	2	167	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CSH2_ENST00000345366.7_Missense_Mutation_p.R6W|CSH2_ENST00000560142.1_Missense_Mutation_p.R6W|CSH2_ENST00000336844.5_Missense_Mutation_p.R6W	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	6						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						AGGGACGTCCGGGAGCCTGGG	0.607																																					p.R6W		Atlas-SNP	.											.	CSH2	37	.	0			c.C16T						PASS	.						12	12	12					17																	61950694		2179	4248	6427	SO:0001583	missense	1443	exon2			ACGTCCGGGAGCC	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.16C>T	17.37:g.61950694G>A	ENSP00000376623:p.Arg6Trp	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	235	55	0.234043	NM_022645	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	g	9.767	1.171702	0.21704	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.91407	-2.84;-2.17;-2.36	4.1	3.12	0.35913	.	0.628574	0.16367	N	0.217506	D	0.83175	0.5197	L	0.39397	1.21	0.09310	N	1	D;B;D;B	0.54397	0.966;0.035;0.966;0.003	B;B;B;B	0.39660	0.306;0.006;0.306;0.005	T	0.72577	-0.4251	10	0.27082	T	0.32	.	7.9049	0.29757	0.1194:0.0:0.8806:0.0	.	6;6;6;6	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	W	6	ENSP00000308396:R6W;ENSP00000338816:R6W;ENSP00000376623:R6W	ENSP00000338816:R6W	R	-	1	2	CSH2	59304426	0.001000	0.12720	0.003000	0.11579	0.011000	0.07611	0.623000	0.24447	0.839000	0.34971	0.561000	0.74099	CGG	G|0.980;A|0.020	0.020	strong		0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		A	61950694	G	A	61950694	3	1	22	1	0	0	0	0	1	0	0	0	3941	1115	39	1	701	1	CSH2	17	61950694	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48683	61950694	19244516	8960	14068										
GH2	2689	hgsc.bcm.edu	37	chr17	61957610	61957610	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattaggacaaggctggtgGgcactggagtagcaccttcc	13	9	0	0	rs58696130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:61957610G>T	ENST00000423893.2	-	0	786				GH2_ENST00000449787.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.P241T			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AAGGCTGGTGGGCACTGGAGT	0.552													G|||	144	0.028754	0.1044	0.0072	5008	,	,		19214	0.0		0.001	False		,,,				2504	0.0				p.P241T		Atlas-SNP	.											.	GH2	73	.	0			c.C721A						PASS	.	G	,,,THR/PRO	304,2350		17,270,1040	36	38	37		,,,721	0.8	0	17	dbSNP_129	37	1,4617		0,1,2308	yes	utr-3,utr-3,utr-3,missense	GH2	NM_002059.3,NM_022556.2,NM_022557.2,NM_022558.2	,,,38	17,271,3348	TT,TG,GG		0.0217,11.4544,4.1942	,,,	,,,241/246	61957610	305,6967	1327	2309	3636	SO:0001624	3_prime_UTR_variant	2689	exon5			CTGGTGGGCACTG	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.*71C>A	17.37:g.61957610G>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	132	71	0.537879	NM_022558	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	g	10.77	1.444668	0.25987	0.114544	2.17E-4	ENSG00000136487	ENST00000456543	D	0.89552	-2.53	1.79	0.797	0.18654	.	.	.	.	.	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.45279	-0.9272	9	0.87932	D	0	.	4.4826	0.11774	0.2024:0.0:0.7976:0.0	rs58696130;rs61764021	241	O14644	.	T	241	ENSP00000394122:P241T	ENSP00000394122:P241T	P	-	1	0	GH2	59311342	0.006000	0.16342	0.002000	0.10522	0.048000	0.14542	0.969000	0.29370	0.321000	0.23259	-0.699000	0.03677	CCA	G|0.983;T|0.017	0.017	strong		0.552	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		T	61957610	G	T	61957610	1	4	22	0	1	0	0	0	0	0	0	0	6368	1232	43	4		4	GH2	17	61957610	3'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6916	61957610	19237600	8961	14069										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62018164	62018164	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgacacctgggcgcacAgtctgccctgggggaggggc	16	13	1	1	rs2227906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62018164A>C	ENST00000435607.1	-	24	5554	c.5478T>G	c.(5476-5478)acT>acG	p.T1826T	SCN4A_ENST00000578147.1_Silent_p.T1826T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1826					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGGCGCACAGTCTGCCCTG	0.677													C|||	928	0.185304	0.6694	0.0476	5008	,	,		17911	0.002		0.005	False		,,,				2504	0.0031				p.T1826T		Atlas-SNP	.											.	SCN4A	205	.	0			c.T5478G						PASS	.	C		2118,1974		567,984,495	36	46	42		5478	-8.6	0	17	dbSNP_98	42	23,8359		0,23,4168	no	coding-synonymous	SCN4A	NM_000334.4		567,1007,4663	CC,CA,AA		0.2744,48.2405,17.1637		1826/1837	62018164	2141,10333	2046	4191	6237	SO:0001819	synonymous_variant	6329	exon24			GCGCACAGTCTGC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5478T>G	17.37:g.62018164A>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																			A|0.808;C|0.192	0.192	strong		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		C	62018164	A	C	62018164	2	2	22	1	0	0	0	0	0	0	0	1	13920	175	7	5		5	SCN4A	17	62018164	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60554	62018164	19177046	8962	14070										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62018239	62018239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagccccatagtgggtccGgcgtcccctgcctcgccctt	10	18	1	0	rs2227907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62018239G>A	ENST00000435607.1	-	24	5479	c.5403C>T	c.(5401-5403)gcC>gcT	p.A1801A	SCN4A_ENST00000578147.1_Silent_p.A1801A	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1801					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGTGGGTCCGGCGTCCCCTG	0.657													G|||	686	0.136981	0.497	0.0317	5008	,	,		17192	0.002		0.002	False		,,,				2504	0.0031				p.A1801A		Atlas-SNP	.											.	SCN4A	205	.	0			c.C5403T						PASS	.	G		1555,2615		295,965,825	34	41	39		5403	-9.2	0	17	dbSNP_98	39	14,8368		0,14,4177	no	coding-synonymous	SCN4A	NM_000334.4		295,979,5002	AA,AG,GG		0.167,37.2902,12.5		1801/1837	62018239	1569,10983	2085	4191	6276	SO:0001819	synonymous_variant	6329	exon24			GGGTCCGGCGTCC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5403C>T	17.37:g.62018239G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	112	110	0.982143	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																			G|0.844;A|0.156	0.156	strong		0.657	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62018239	G	A	62018239	2	1	22	1	0	0	0	0	0	0	0	1	13920	1103	39	1		1	SCN4A	17	62018239	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75	62018239	19176971	8963	14071										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62018737	62018737	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgagaggcggctgtaggcGatgaactgggtggcgtcggg	20	7	1	2	rs59081944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62018737G>A	ENST00000435607.1	-	24	4981	c.4905C>T	c.(4903-4905)atC>atT	p.I1635I	SCN4A_ENST00000578147.1_Silent_p.I1635I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1635					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCTGTAGGCGATGAACTGGG	0.567													G|||	92	0.0183706	0.0681	0.0029	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0				p.I1635I		Atlas-SNP	.											.	SCN4A	205	.	0			c.C4905T						PASS	.	G		190,4046		4,182,1932	52	59	56		4905	-3.4	0.9	17	dbSNP_129	56	1,8481		0,1,4240	no	coding-synonymous	SCN4A	NM_000334.4		4,183,6172	AA,AG,GG		0.0118,4.4854,1.5018		1635/1837	62018737	191,12527	2118	4241	6359	SO:0001819	synonymous_variant	6329	exon24			GTAGGCGATGAAC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4905C>T	17.37:g.62018737G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	228	101	0.442982	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																			G|0.983;A|0.017	0.017	strong		0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62018737	G	A	62018737	2	1	22	1	0	0	0	0	0	0	0	1	13920	1048	37	1		1	SCN4A	17	62018737	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	498	62018737	19176473	8964	14072										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62029006	62029006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgggcggctccttcttctcAtcctcgggggcagtctcccc	11	17	3	0	rs79893125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62029006A>G	ENST00000435607.1	-	14	2707	c.2631T>C	c.(2629-2631)gaT>gaC	p.D877D	SCN4A_ENST00000578147.1_Silent_p.D877D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	877					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCTTCTCATCCTCGGGGG	0.657													G|||	485	0.096845	0.3026	0.0303	5008	,	,		13158	0.0169		0.0199	False		,,,				2504	0.0276				p.D877D		Atlas-SNP	.											.	SCN4A	205	.	0			c.T2631C						PASS	.	G		974,2962		135,704,1129	55	64	61		2631	-7	0.1	17	dbSNP_131	61	153,8095		6,141,3977	no	coding-synonymous	SCN4A	NM_000334.4		141,845,5106	GG,GA,AA		1.855,24.7459,9.2498		877/1837	62029006	1127,11057	1968	4124	6092	SO:0001819	synonymous_variant	6329	exon14			CTTCTCATCCTCG	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2631T>C	17.37:g.62029006A>G		Somatic	305	1	0.00327869		WXS	Illumina HiSeq	Phase_I	332	155	0.466867	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																			A|0.936;G|0.064	0.064	strong		0.657	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		G	62029006	A	G	62029006	2	3	22	1	0	0	0	0	0	0	0	1	13920	214	8	2		2	SCN4A	17	62029006	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10269	62029006	19166204	8965	14073										
ERN1	2081	hgsc.bcm.edu	37	chr17	62137893	62137893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgatgtttgggtagattgTtgggaaatctctccagcatc	11	9	1	1	rs79107850	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62137893T>C	ENST00000433197.3	-	11	1237	c.1142A>G	c.(1141-1143)aAc>aGc	p.N381S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGTAGATTGTTGGGAAATCT	0.473													T|||	33	0.00658946	0.0234	0.0029	5008	,	,		21401	0.0		0.0	False		,,,				2504	0.0				p.N381S		Atlas-SNP	.											.	ERN1	102	.	0			c.A1142G						PASS	.	T	SER/ASN	60,3790		1,58,1866	164	158	160		1142	5.3	1	17	dbSNP_131	160	0,8276		0,0,4138	yes	missense	ERN1	NM_001433.3	46	1,58,6004	CC,CT,TT		0.0,1.5584,0.4948	benign	381/978	62137893	60,12066	1925	4138	6063	SO:0001583	missense	2081	exon11			AGATTGTTGGGAA	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1142A>G	17.37:g.62137893T>C	ENSP00000401445:p.Asn381Ser	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	150	64	0.426667	NM_001433		Missense_Mutation	SNP	ENST00000433197.3	37	CCDS45762.1	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	T	8.605	0.887770	0.17540	0.015584	0.0	ENSG00000178607	ENST00000433197	T	0.58060	0.36	5.33	5.33	0.75918	.	0.150729	0.64402	D	0.000013	T	0.11110	0.0271	N	0.14661	0.345	0.30788	N	0.741199	B	0.06786	0.001	B	0.01281	0.0	T	0.16158	-1.0412	10	0.07175	T	0.84	-44.0147	8.0501	0.30572	0.0:0.1225:0.0:0.8775	.	381	O75460	ERN1_HUMAN	S	381	ENSP00000401445:N381S	ENSP00000401445:N381S	N	-	2	0	ERN1	59491625	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.120000	0.57897	2.008000	0.58898	0.379000	0.24179	AAC	T|0.990;C|0.010	0.010	strong		0.473	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		C	62137893	T	C	62137893	3	2	22	1	0	0	0	0	1	0	0	0	5237	1725	60	2	1839	2	ERN1	17	62137893	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	108887	62137893	19057317	8966	14074										
ERN1	2081	hgsc.bcm.edu	37	chr17	62149423	62149423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagtctgctgcttctctccGgtcaggaggtcaataacata	9	10	4	0	rs374999844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62149423G>A	ENST00000433197.3	-	6	491	c.396C>T	c.(394-396)acC>acT	p.T132T	ERN1_ENST00000577567.1_5'UTR	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTTCTCTCCGGTCAGGAGGT	0.448													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20164	0.0		0.0	False		,,,				2504	0.0				p.T132T		Atlas-SNP	.											.	ERN1	102	.	0			c.C396T						PASS	.	G		5,3827		0,5,1911	51	50	51		396	-2.8	1	17		51	1,8269		0,1,4134	no	coding-synonymous	ERN1	NM_001433.3		0,6,6045	AA,AG,GG		0.0121,0.1305,0.0496		132/978	62149423	6,12096	1916	4135	6051	SO:0001819	synonymous_variant	2081	exon6			CTCTCCGGTCAGG	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.396C>T	17.37:g.62149423G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_001433		Silent	SNP	ENST00000433197.3	37	CCDS45762.1																																																																																			.	.	weak		0.448	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		A	62149423	G	A	62149423	2	1	22	1	0	0	0	0	0	0	0	1	5237	1103	39	1		1	ERN1	17	62149423	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11530	62149423	19045787	8967	14075										
TEX2	55852	hgsc.bcm.edu	37	chr17	62291105	62291105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatggggaggaagaactgGttttctgctcagaaagggat	14	5	2	2	rs28605685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62291105G>A	ENST00000583097.1	-	2	645	c.473C>T	c.(472-474)aCc>aTc	p.T158I	TEX2_ENST00000584379.1_Missense_Mutation_p.T158I|TEX2_ENST00000258991.3_Missense_Mutation_p.T158I			Q8IWB9	TEX2_HUMAN	testis expressed 2	158			T -> I (in dbSNP:rs28605685).		signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGAAGAACTGGTTTTCTGCTC	0.527													G|||	349	0.0696885	0.2481	0.0303	5008	,	,		19789	0.0		0.0	False		,,,				2504	0.0				p.T158I		Atlas-SNP	.											.	TEX2	89	.	0			c.C473T						PASS	.	G	ILE/THR	921,3485	353.1+/-312.0	101,719,1383	72	67	69		473	5.8	1	17	dbSNP_125	69	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TEX2	NM_018469.3	89	101,722,5680	AA,AG,GG		0.0349,20.9033,7.1044	probably-damaging	158/1135	62291105	924,12082	2203	4300	6503	SO:0001583	missense	55852	exon2			GAACTGGTTTTCT	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.473C>T	17.37:g.62291105G>A	ENSP00000462665:p.Thr158Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	143	68	0.475524	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		117	0.05357142857142857	104	0.21138211382113822	13	0.03591160220994475	0	0.0	0	0.0	G	11.37	1.618083	0.28801	0.209033	3.49E-4	ENSG00000136478	ENST00000258991	T	0.50001	0.76	5.82	5.82	0.92795	.	0.186533	0.44902	D	0.000409	T	0.00039	0.0001	N	0.14661	0.345	0.22771	P	0.99875152	D;P	0.53462	0.96;0.933	P;B	0.48795	0.59;0.386	T	0.02161	-1.1203	9	0.52906	T	0.07	-18.3683	20.1054	0.97890	0.0:0.0:1.0:0.0	rs28605685	158;158	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	I	158	ENSP00000258991:T158I	ENSP00000258991:T158I	T	-	2	0	TEX2	59644837	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.538000	0.60650	2.757000	0.94681	0.655000	0.94253	ACC	G|0.937;A|0.063	0.063	strong		0.527	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62291105	G	A	62291105	3	1	22	1	0	0	0	0	1	0	0	0	15778	1261	44	2	2975	2	TEX2	17	62291105	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	141682	62291105	18904105	8968	14076										
POLG2	11232	hgsc.bcm.edu	37	chr17	62492582	62492582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatacgttctcaagaaatgCtactagctgttccttactca	5	10	2	1	rs1427463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62492582C>T	ENST00000539111.2	-	1	572	c.505G>A	c.(505-507)Gca>Aca	p.A169T		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	169			A -> T (in dbSNP:rs1427463). {ECO:0000269|PubMed:10666468, ECO:0000269|PubMed:15489334}.		DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TCAAGAAATGCTACTAGCTGT	0.463													C|||	1450	0.289537	0.8033	0.2161	5008	,	,		21332	0.0278		0.1163	False		,,,				2504	0.0951				p.A169T	Colon(3;18 21 435 17652 48887)	Atlas-SNP	.											.	POLG2	29	.	0			c.G505A						PASS	.	C	THR/ALA	3023,1383	689.6+/-405.1	1059,905,239	122	130	128		505	1.6	1	17	dbSNP_88	128	827,7773	190.8+/-237.2	39,749,3512	yes	missense	POLG2	NM_007215.3	58	1098,1654,3751	TT,TC,CC		9.6163,31.389,29.6017	benign	169/486	62492582	3850,9156	2203	4300	6503	SO:0001583	missense	11232	exon1			GAAATGCTACTAG	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.505G>A	17.37:g.62492582C>T	ENSP00000442563:p.Ala169Thr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	156	78	0.5	NM_007215	O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	546	0.25	364	0.7398373983739838	71	0.19613259668508287	21	0.03671328671328671	90	0.11873350923482849	C	10.75	1.439392	0.25900	0.68611	0.096163	ENSG00000256525	ENST00000539111	T	0.76968	-1.06	5.15	1.58	0.23477	.	0.328747	0.32868	N	0.005554	T	0.00012	0.0000	L	0.32530	0.975	0.31367	P	0.6806829999999999	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.43861	-0.9365	9	0.02654	T	1	-6.3804	10.0895	0.42439	0.0:0.7458:0.0:0.2542	rs1427463;rs3744408;rs1427463	169;169	E5KS15;Q9UHN1	.;DPOG2_HUMAN	T	169	ENSP00000442563:A169T	ENSP00000442563:A169T	A	-	1	0	POLG2	59923044	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-0.630000	0.05502	0.591000	0.29711	0.555000	0.69702	GCA	C|0.726;T|0.274	0.274	strong		0.463	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		T	62492582	C	T	62492582	3	4	22	1	0	0	0	0	1	0	0	0	12201	797	28	2	984	2	POLG2	17	62492582	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201477	62492582	18702628	8969	14077										
DDX5	1655	hgsc.bcm.edu	37	chr17	62499163	62499163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggaaatcttcagcaagCtgtcttacttcttttggcca	7	10	5	0	rs56025355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62499163C>T	ENST00000225792.5	-	8	1265	c.864G>A	c.(862-864)caG>caA	p.Q288Q	DDX5_ENST00000578804.1_Silent_p.Q288Q|DDX5_ENST00000450599.2_Silent_p.Q209Q|DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	288	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTCAGCAAGCTGTCTTACTT	0.398			T	ETV4	prostate								C|||	19	0.00379393	0.0015	0.0029	5008	,	,		20101	0.0		0.0149	False		,,,				2504	0.0				p.Q288Q	NSCLC(22;406 813 4871 19580 40307)	Atlas-SNP	.		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	.	DDX5	101	.	0			c.G864A						PASS	.	C		10,4396	16.8+/-37.8	0,10,2193	180	174	176		864	3.9	1	17	dbSNP_129	176	83,8517	48.9+/-108.6	0,83,4217	no	coding-synonymous	DDX5	NM_004396.3		0,93,6410	TT,TC,CC		0.9651,0.227,0.7151		288/615	62499163	93,12913	2203	4300	6503	SO:0001819	synonymous_variant	1655	exon8			AGCAAGCTGTCTT	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.864G>A	17.37:g.62499163C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	169	68	0.402367	NM_004396	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	CCDS11659.1																																																																																			C|0.993;T|0.007	0.007	strong		0.398	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		T	62499163	C	T	62499163	2	4	22	1	0	0	0	0	0	0	0	1	4367	796	28	2		2	DDX5	17	62499163	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6581	62499163	18696047	8970	14078										
SMURF2	64750	hgsc.bcm.edu	37	chr17	62567987	62567987	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttctgttgttatggtcaacGaaataaactctgcctgttgc	9	8	3	0	rs34788315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:62567987G>A	ENST00000262435.9	-	10	1132	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	315	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|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 protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TATGGTCAACGAAATAAACTC	0.383													G|||	160	0.0319489	0.115	0.0115	5008	,	,		17923	0.0		0.0	False		,,,				2504	0.0				p.F315F		Atlas-SNP	.											.	SMURF2	63	.	0			c.C945T						PASS	.	G		414,3992	204.1+/-226.4	13,388,1802	118	106	110		945	0.8	1	17	dbSNP_126	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SMURF2	NM_022739.3		13,390,6100	AA,AG,GG		0.0233,9.3963,3.1985		315/749	62567987	416,12590	2203	4300	6503	SO:0001819	synonymous_variant	64750	exon10			GTCAACGAAATAA	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.945C>T	17.37:g.62567987G>A		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	182	92	0.505495	NM_022739	Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	CCDS32707.1																																																																																			G|0.964;A|0.036	0.036	strong		0.383	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		A	62567987	G	A	62567987	2	1	22	1	0	0	0	0	0	0	0	1	14820	1049	37	1		1	SMURF2	17	62567987	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	68824	62567987	18627223	8971	14079										
GNA13	10672	hgsc.bcm.edu	37	chr17	63049709	63049709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagatattgtaagaaaaCccttgtttccaccattcctt	6	9	0	2	rs116700192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:63049709C>T	ENST00000439174.2	-	2	666	c.421G>A	c.(421-423)Gtt>Att	p.V141I	GNA13_ENST00000541118.1_Missense_Mutation_p.V46I|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	141					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TGTAAGAAAACCCTTGTTTCC	0.468													C|||	55	0.0109824	0.0408	0.0014	5008	,	,		16418	0.0		0.0	False		,,,				2504	0.0				p.V141I		Atlas-SNP	.											.	GNA13	69	.	0			c.G421A						PASS	.	C	ILE/VAL	193,4213	121.3+/-158.8	4,185,2014	126	127	127		421	3.4	0	17	dbSNP_132	127	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GNA13	NM_006572.4	29	4,186,6313	TT,TC,CC		0.0116,4.3804,1.4916	benign	141/378	63049709	194,12812	2203	4300	6503	SO:0001583	missense	10672	exon2			AGAAAACCCTTGT	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.421G>A	17.37:g.63049709C>T	ENSP00000400717:p.Val141Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	105	102	0.971429	NM_006572	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	C	13.82	2.351213	0.41700	0.043804	1.16E-4	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88818	-2.43;-2.43	5.42	3.44	0.39384	G protein alpha subunit, helical insertion (2);	0.125987	0.30630	N	0.009208	T	0.54431	0.1858	L	0.45470	1.425	0.34370	D	0.691943	B	0.27594	0.182	B	0.31337	0.128	T	0.75269	-0.3377	10	0.37606	T	0.19	.	11.6014	0.51006	0.0:0.8574:0.0:0.1426	.	141	Q14344	GNA13_HUMAN	I	141;46;116	ENSP00000400717:V141I;ENSP00000439647:V46I	ENSP00000239138:V116I	V	-	1	0	GNA13	60480171	0.972000	0.33761	0.014000	0.15608	0.975000	0.68041	2.447000	0.44917	0.664000	0.31047	0.655000	0.94253	GTT	C|0.988;T|0.012	0.012	strong		0.468	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		T	63049709	C	T	63049709	3	4	22	1	0	0	0	0	1	0	0	0	6501	507	18	2	724	2	GNA13	17	63049709	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481722	63049709	18145501	8972	14080										
RGS9	8787	hgsc.bcm.edu	37	chr17	63221136	63221136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagccgggccagcacatggCtcccagcccccatctgaccg	10	19	1	1	rs116395890	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:63221136C>T	ENST00000262406.9	+	18	1491	c.1424C>T	c.(1423-1425)gCt>gTt	p.A475V	RGS9_ENST00000443584.3_Missense_Mutation_p.A472V|RGS9_ENST00000449996.3_Missense_Mutation_p.A472V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	475					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAGCACATGGCTCCCAGCCCC	0.642													C|||	27	0.00539137	0.0197	0.0014	5008	,	,		17870	0.0		0.0	False		,,,				2504	0.0				p.A475V		Atlas-SNP	.											.	RGS9	82	.	0			c.C1424T						PASS	.	C	VAL/ALA,VAL/ALA	66,4064		0,66,1999	96	112	107		1415,1424	3.6	0	17	dbSNP_132	107	0,8416		0,0,4208	yes	missense,missense	RGS9	NM_001081955.2,NM_003835.3	64,64	0,66,6207	TT,TC,CC		0.0,1.5981,0.5261	possibly-damaging,possibly-damaging	472/672,475/675	63221136	66,12480	2065	4208	6273	SO:0001583	missense	8787	exon18			ACATGGCTCCCAG	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1424C>T	17.37:g.63221136C>T	ENSP00000262406:p.Ala475Val	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	96	49	0.510417	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.11	2.437293	0.43224	0.015981	0.0	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.33216	1.42;1.42	4.56	3.58	0.41010	.	0.420099	0.26742	N	0.022729	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31548	0.099;0.22;0.328	B;B;B	0.24394	0.025;0.024;0.053	T	0.17623	-1.0363	10	0.62326	D	0.03	.	12.4444	0.55643	0.0:0.915:0.0:0.085	.	475;475;472	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	V	475;472	ENSP00000262406:A475V;ENSP00000396329:A472V	ENSP00000262406:A475V	A	+	2	0	RGS9	60651598	0.176000	0.23096	0.018000	0.16275	0.782000	0.44232	2.127000	0.42035	2.450000	0.82876	0.561000	0.74099	GCT	C|0.994;T|0.006	0.006	strong		0.642	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63221136	C	T	63221136	3	4	22	1	0	0	0	0	1	0	0	0	13313	797	28	2	1549	2	RGS9	17	63221136	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171427	63221136	17974074	8973	14081										
CCDC46	201134	hgsc.bcm.edu	37	chr17	63822357	63822357	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctcttctctcatctctaTcagtctcagggcttggtttt	6	11	6	0	rs62065084	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:63822357T>C	ENST00000392769.2	-	21	2613				CEP112_ENST00000535342.2_Intron|CEP112_ENST00000580482.1_Intron|CEP112_ENST00000317442.8_Missense_Mutation_p.I21V|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa						receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTCATCTCTATCAGTCTCAGG	0.463													T|||	1074	0.214457	0.2368	0.2262	5008	,	,		21080	0.125		0.2207	False		,,,				2504	0.2618				p.I21V		Atlas-SNP	.											.	CEP112	192	.	0			c.A61G						PASS	.	T	VAL/ILE,,	1069,3337	390.7+/-327.8	141,787,1275	259	258	258		61,,	-0.8	0	17	dbSNP_129	258	2066,6534	359.0+/-331.4	238,1590,2472	yes	missense,intron,intron	CEP112	NM_001037325.2,NM_001199165.1,NM_145036.3	29,,	379,2377,3747	CC,CT,TT		24.0233,24.2624,24.1043	,,	21/212,,	63822357	3135,9871	2203	4300	6503	SO:0001627	intron_variant	201134	exon1			TCTCTATCAGTCT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2394+25564A>G	17.37:g.63822357T>C		Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	395	176	0.44557	NM_001037325	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	440	0.20146520146520147	115	0.23373983739837398	86	0.23756906077348067	77	0.1346153846153846	162	0.21372031662269128	T	8.616	0.890231	0.17613	0.242624	0.240233	ENSG00000154240	ENST00000317442	.	.	.	3.01	-0.831	0.10789	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.32981	-0.9886	6	0.24483	T	0.36	.	4.3253	0.11038	0.0:0.1211:0.4057:0.4732	rs62065084	21	Q8N8E3-2	.	V	21	.	ENSP00000320592:I21V	I	-	1	0	CEP112	61252819	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.252000	0.08806	-0.210000	0.10140	0.454000	0.30748	ATA	T|0.765;C|0.235	0.235	strong		0.463	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		C	63822357	T	C	63822357	1	2	22	0	1	0	0	0	0	0	0	0	2817	1435	50	2		2	CCDC46	17	63822357	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	601221	63822357	17372853	8974	14082										
APOH	350	hgsc.bcm.edu	37	chr17	64216797	64216797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatagagggaattgtttccaGctgatggcttataaacacga	11	6	0	2	rs114459902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:64216797G>T	ENST00000205948.6	-	5	516	c.479C>A	c.(478-480)gCt>gAt	p.A160D		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	160	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ATTGTTTCCAGCTGATGGCTT	0.408													G|||	29	0.00579073	0.0212	0.0014	5008	,	,		19051	0.0		0.0	False		,,,				2504	0.0				p.A160D	Melanoma(155;624 1882 16869 48804 51309)	Atlas-SNP	.											.	APOH	45	.	0			c.C479A						PASS	.	G	ASP/ALA	83,4323	70.3+/-108.2	0,83,2120	127	123	124		479	0.9	0	17	dbSNP_133	124	0,8600		0,0,4300	yes	missense	APOH	NM_000042.2	126	0,83,6420	TT,TG,GG		0.0,1.8838,0.6382	benign	160/346	64216797	83,12923	2203	4300	6503	SO:0001583	missense	350	exon5			TTTCCAGCTGATG		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.479C>A	17.37:g.64216797G>T	ENSP00000205948:p.Ala160Asp	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	147	57	0.387755	NM_000042	B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	g	4.559	0.103783	0.08731	0.018838	0.0	ENSG00000091583	ENST00000205948	T	0.30448	1.53	5.2	0.92	0.19397	Complement control module (2);Sushi/SCR/CCP (3);	0.940200	0.09067	N	0.853424	T	0.11665	0.0284	L	0.53729	1.69	0.09310	N	0.999999	B	0.29378	0.243	B	0.22601	0.04	T	0.25398	-1.0133	10	0.15066	T	0.55	.	4.9343	0.13932	0.3059:0.0:0.5587:0.1354	.	160	P02749	APOH_HUMAN	D	160	ENSP00000205948:A160D	ENSP00000205948:A160D	A	-	2	0	APOH	61647259	0.000000	0.05858	0.013000	0.15412	0.335000	0.28730	-0.346000	0.07760	0.036000	0.15547	-0.271000	0.10264	GCT	G|0.993;T|0.007	0.007	strong		0.408	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		T	64216797	G	T	64216797	3	4	22	1	0	0	0	0	1	0	0	0	804	971	34	4	574	4	APOH	17	64216797	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	394440	64216797	16978413	8975	14083										
APOH	350	hgsc.bcm.edu	37	chr17	64216815	64216815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgatggcttataaacaCgaagtgttgcaaacgtaggt	11	7	0	1	rs8178847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:64216815C>T	ENST00000205948.6	-	5	498	c.461G>A	c.(460-462)cGt>cAt	p.R154H		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	154	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in dbSNP:rs8178847). {ECO:0000269|Ref.8}.		blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CTTATAAACACGAAGTGTTGC	0.383													c|||	352	0.0702875	0.115	0.0418	5008	,	,		19173	0.0516		0.0696	False		,,,				2504	0.0501				p.R154H	Melanoma(155;624 1882 16869 48804 51309)	Atlas-SNP	.											.	APOH	45	.	0			c.G461A						PASS	.	T	HIS/ARG	397,4009	790.4+/-415.0	17,363,1823	116	113	114		461	1.6	0	17	dbSNP_117	114	560,8040	794.3+/-407.5	17,526,3757	yes	missense	APOH	NM_000042.2	29	34,889,5580	TT,TC,CC		6.5116,9.0104,7.3581	benign	154/346	64216815	957,12049	2203	4300	6503	SO:0001583	missense	350	exon5			TAAACACGAAGTG		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.461G>A	17.37:g.64216815C>T	ENSP00000205948:p.Arg154His	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	132	49	0.371212	NM_000042	B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	167	0.07646520146520147	62	0.12601626016260162	16	0.04419889502762431	35	0.06118881118881119	54	0.0712401055408971	t	3.786	-0.044700	0.07452	0.090104	0.065116	ENSG00000091583	ENST00000205948	T	0.63417	-0.04	5.42	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	1.273270	0.04813	N	0.435553	T	0.00356	0.0011	N	0.08118	0	0.80722	P	0.0	P	0.40731	0.728	B	0.25884	0.064	T	0.03008	-1.1083	9	0.33141	T	0.24	.	4.8598	0.13577	0.0:0.3473:0.2571:0.3956	rs8178847;rs61420267;rs8178847	154	P02749	APOH_HUMAN	H	154	ENSP00000205948:R154H	ENSP00000205948:R154H	R	-	2	0	APOH	61647277	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.005000	0.13129	0.492000	0.27815	-0.213000	0.12676	CGT	C|0.927;T|0.073	0.073	strong		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		T	64216815	C	T	64216815	3	4	22	1	0	0	0	0	1	0	0	0	804	536	19	1	592	1	APOH	17	64216815	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18	64216815	16978395	8976	14084										
APOH	350	hgsc.bcm.edu	37	chr17	64216854	64216854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatggatggtggagggcagAtgatggctgggaaaataaag	18	2	0	2	rs52797880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:64216854A>G	ENST00000205948.6	-	5	459	c.422T>C	c.(421-423)aTc>aCc	p.I141T		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	141	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGGAGGGCAGATGATGGCTGG	0.368													G|||	352	0.0702875	0.115	0.0418	5008	,	,		18261	0.0516		0.0696	False		,,,				2504	0.0501				p.I141T	Melanoma(155;624 1882 16869 48804 51309)	Atlas-SNP	.											.	APOH	45	.	0			c.T422C						PASS	.	G	THR/ILE	397,4009		17,363,1823	85	85	85		422	3.4	0.1	17	dbSNP_128	85	560,8040		17,526,3757	yes	missense	APOH	NM_000042.2	89	34,889,5580	GG,GA,AA		6.5116,9.0104,7.3581	benign	141/346	64216854	957,12049	2203	4300	6503	SO:0001583	missense	350	exon5			GGGCAGATGATGG		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.422T>C	17.37:g.64216854A>G	ENSP00000205948:p.Ile141Thr	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	34	0.333333	NM_000042	B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	167	0.07646520146520147	62	0.12601626016260162	16	0.04419889502762431	35	0.06118881118881119	54	0.0712401055408971	N	1.071	-0.670004	0.03403	0.090104	0.065116	ENSG00000091583	ENST00000205948	T	0.22743	1.94	5.4	3.37	0.38596	Complement control module (1);Sushi/SCR/CCP (1);	0.221461	0.46145	N	0.000314	T	0.00039	0.0001	N	0.00223	-1.815	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	9	0.02654	T	1	.	5.9326	0.19148	0.1474:0.0:0.5803:0.2723	rs52797880	141	P02749	APOH_HUMAN	T	141	ENSP00000205948:I141T	ENSP00000205948:I141T	I	-	2	0	APOH	61647316	1.000000	0.71417	0.060000	0.19600	0.045000	0.14185	1.743000	0.38258	0.253000	0.21552	-0.229000	0.12294	ATC	A|0.927;G|0.073	0.073	strong		0.368	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		G	64216854	A	G	64216854	3	3	22	1	0	0	0	0	1	0	0	0	804	333	12	2	631	2	APOH	17	64216854	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39	64216854	16978356	8977	14085										
PRKCA	5578	hgsc.bcm.edu	37	chr17	64785022	64785022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagagggacgtgagagaGcatgccttcttccggaggat	18	7	1	3	rs2228945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:64785022G>A	ENST00000413366.3	+	16	1805	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.E593E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACGTGAGAGAGCATGCCTTCT	0.537													A|||	844	0.16853	0.3336	0.1398	5008	,	,		19158	0.1607		0.0805	False		,,,				2504	0.0644				p.E593E		Atlas-SNP	.											PRKCA,colon,carcinoma,0,3	PRKCA	82	3	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G1779A						PASS	.	A		1404,3002	686.6+/-404.7	227,950,1026	90	86	87		1779	-2.1	0.9	17	dbSNP_98	87	655,7945	790.0+/-407.6	31,593,3676	no	coding-synonymous	PRKCA	NM_002737.2		258,1543,4702	AA,AG,GG		7.6163,31.8656,15.8312		593/673	64785022	2059,10947	2203	4300	6503	SO:0001819	synonymous_variant	5578	exon16			GAGAGAGCATGCC		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1779G>A	17.37:g.64785022G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_002737	B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																			G|0.855;A|0.145	0.145	strong		0.537	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			A	64785022	G	A	64785022	2	1	22	1	0	0	0	0	0	0	0	1	12507	962	34	2		2	PRKCA	17	64785022	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	568168	64785022	16410188	8978	14086										
CACNG1	786	hgsc.bcm.edu	37	chr17	65052343	65052343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccctgcctcgaatgcccCggaacccatgggagtcctgc	10	17	1	0	rs371885900		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:65052343C>T	ENST00000226021.3	+	4	696	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	209					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCGAATGCCCCGGAACCCATG	0.632																																					p.R209W		Atlas-SNP	.											CACNG1,colon,carcinoma,0,1	CACNG1	24	1	0			c.C625T						PASS	.	C	TRP/ARG	0,4406		0,0,2203	127	105	112		625	5	1	17		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNG1	NM_000727.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	209/223	65052343	1,13005	2203	4300	6503	SO:0001583	missense	786	exon4			ATGCCCCGGAACC	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.625C>T	17.37:g.65052343C>T	ENSP00000226021:p.Arg209Trp	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	140	73	0.521429	NM_000727	B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657308	0.67586	0.0	1.16E-4	ENSG00000108878	ENST00000226021	T	0.46819	0.86	5.0	5.0	0.66597	.	0.508381	0.19982	N	0.101758	T	0.48150	0.1484	M	0.70595	2.14	0.29089	N	0.882193	D	0.61697	0.99	B	0.43623	0.425	T	0.53151	-0.8479	10	0.30078	T	0.28	-13.263	12.7164	0.57117	0.1643:0.8357:0.0:0.0	.	209	Q06432	CCG1_HUMAN	W	209	ENSP00000226021:R209W	ENSP00000226021:R209W	R	+	1	2	CACNG1	62482805	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.173000	0.42472	2.482000	0.83794	0.462000	0.41574	CGG	.	.	weak		0.632	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			T	65052343	C	T	65052343	3	4	22	1	0	0	0	0	1	0	0	0	2556	643	23	1	639	1	CACNG1	17	65052343	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	267321	65052343	16142867	8979	14087										
NOL11	25926	hgsc.bcm.edu	37	chr17	65732093	65732093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatacaagtgtgaagtgtcAtcattagcaggtgctcttgg	11	8	3	1	rs3760227	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:65732093A>G	ENST00000253247.4	+	9	1123	c.1008A>G	c.(1006-1008)tcA>tcG	p.S336S	NOL11_ENST00000535137.1_Silent_p.S154S	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	336					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGAAGTGTCATCATTAGCAG	0.328													A|||	436	0.0870607	0.0575	0.0937	5008	,	,		16795	0.13		0.1193	False		,,,				2504	0.045				p.S336S		Atlas-SNP	.											.	NOL11	48	.	0			c.A1008G						PASS	.	A		266,4140	149.9+/-184.0	3,260,1940	122	111	115		1008	-3.6	0.3	17	dbSNP_107	115	925,7675	203.4+/-246.4	56,813,3431	no	coding-synonymous	NOL11	NM_015462.3		59,1073,5371	GG,GA,AA		10.7558,6.0372,9.1573		336/720	65732093	1191,11815	2203	4300	6503	SO:0001819	synonymous_variant	25926	exon9			AGTGTCATCATTA	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1008A>G	17.37:g.65732093A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	187	91	0.486631	NM_015462	B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	CCDS11671.1																																																																																			A|0.903;G|0.097	0.097	strong		0.328	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		G	65732093	A	G	65732093	2	3	22	1	0	0	0	0	0	0	0	1	10521	204	8	2		2	NOL11	17	65732093	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	679750	65732093	15463117	8980	14088										
NOL11	25926	hgsc.bcm.edu	37	chr17	65735054	65735054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttagtcctaagtaatgcAattcttcattcagcatatag	5	9	3	0	rs151002760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:65735054A>G	ENST00000253247.4	+	15	1885	c.1770A>G	c.(1768-1770)gcA>gcG	p.A590A	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Silent_p.A408A	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	590					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAAGTAATGCAATTCTTCATT	0.333													A|||	6	0.00119808	0.0045	0.0	5008	,	,		19461	0.0		0.0	False		,,,				2504	0.0				p.A590A		Atlas-SNP	.											.	NOL11	48	.	0			c.A1770G						PASS	.	A		45,4361	48.2+/-83.0	0,45,2158	165	150	155		1770	3.9	1	17	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	NOL11	NM_015462.3		0,45,6458	GG,GA,AA		0.0,1.0213,0.346		590/720	65735054	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	25926	exon15			TAATGCAATTCTT	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1770A>G	17.37:g.65735054A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	117	53	0.452991	NM_015462	B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	CCDS11671.1																																																																																			A|0.997;G|0.003	0.003	strong		0.333	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		G	65735054	A	G	65735054	2	3	22	1	0	0	0	0	0	0	0	1	10521	117	5	2		2	NOL11	17	65735054	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2961	65735054	15460156	8981	14089										
BPTF	2186	hgsc.bcm.edu	37	chr17	65914911	65914911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaagtttgagatgggatgaTatggcggccaaggctcctcc	14	9	0	2	rs80201495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:65914911T>C	ENST00000321892.4	+	14	5824	c.5763T>C	c.(5761-5763)gaT>gaC	p.D1921D	BPTF_ENST00000306378.6_Silent_p.D1795D|BPTF_ENST00000424123.3_Silent_p.D1782D|BPTF_ENST00000335221.5_Silent_p.D1921D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1921					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATGGGATGATATGGCGGCCA	0.458													C|||	95	0.0189696	0.0666	0.0086	5008	,	,		16414	0.0		0.001	False		,,,				2504	0.0				p.D1921D		Atlas-SNP	.											.	BPTF	415	.	0			c.T5763C						PASS	.	C	,	247,4159	804.1+/-415.7	7,233,1963	149	145	147		5763,5385	3.2	1	17	dbSNP_131	147	8,8592	818.9+/-406.8	0,8,4292	no	coding-synonymous,coding-synonymous	BPTF	NM_004459.6,NM_182641.3	,	7,241,6255	CC,CT,TT		0.093,5.606,1.9606	,	1921/2904,1795/2921	65914911	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	2186	exon14			GGATGATATGGCG	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5763T>C	17.37:g.65914911T>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	148	76	0.513514	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																				T|0.981;C|0.019	0.019	strong		0.458	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		C	65914911	T	C	65914911	2	2	22	1	0	0	0	0	0	0	0	1	1495	1403	49	2		2	BPTF	17	65914911	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	179857	65914911	15280299	8982	14090										
BPTF	2186	hgsc.bcm.edu	37	chr17	65919092	65919092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaattgtgggagatcagGgcatttgctgagaggtaagg	17	4	1	2	rs59088743	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:65919092G>A	ENST00000321892.4	+	16	6133	c.6072G>A	c.(6070-6072)agG>agA	p.R2024R	BPTF_ENST00000306378.6_Silent_p.R1898R|BPTF_ENST00000424123.3_Silent_p.R1885R|BPTF_ENST00000335221.5_Silent_p.R2024R			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2024					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGAGATCAGGGCATTTGCTG	0.398													G|||	95	0.0189696	0.0666	0.0086	5008	,	,		18950	0.0		0.001	False		,,,				2504	0.0				p.R2024R		Atlas-SNP	.											.	BPTF	415	.	0			c.G6072A						PASS	.	G	,	247,4159	143.1+/-178.2	7,233,1963	144	139	141		6072,5694	3.8	1	17	dbSNP_129	141	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	BPTF	NM_004459.6,NM_182641.3	,	7,241,6255	AA,AG,GG		0.093,5.606,1.9606	,	2024/2904,1898/2921	65919092	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	2186	exon16			GATCAGGGCATTT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6072G>A	17.37:g.65919092G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	138	59	0.427536	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																				G|0.981;A|0.019	0.019	strong		0.398	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		A	65919092	G	A	65919092	2	1	22	1	0	0	0	0	0	0	0	1	1495	1223	43	2		2	BPTF	17	65919092	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4181	65919092	15276118	8983	14091										
SLC16A6	9120	hgsc.bcm.edu	37	chr17	66267734	66267734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagatgacaatgtttaactgTagtaggcccacgaagaggag	12	6	0	3	rs61740584	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66267734T>C	ENST00000327268.4	-	6	731	c.567A>G	c.(565-567)ctA>ctG	p.L189L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L189L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	189					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGTTTAACTGTAGTAGGCCCA	0.473													T|||	118	0.0235623	0.087	0.0043	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.0				p.L189L		Atlas-SNP	.											.	SLC16A6	56	.	0			c.A567G						PASS	.	T	,,	400,4006	199.1+/-222.7	18,364,1821	76	73	74		567,567,	-2.4	0.3	17	dbSNP_129	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	SLC16A6,ARSG	NM_001174166.1,NM_004694.4,NM_014960.3	,,	18,365,6120	CC,CT,TT		0.0116,9.0785,3.0832	,,	189/524,189/524,	66267734	401,12605	2203	4300	6503	SO:0001819	synonymous_variant	9120	exon6			TAACTGTAGTAGG	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.567A>G	17.37:g.66267734T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	119	54	0.453782	NM_001174166	Q6P1X3	Silent	SNP	ENST00000327268.4	37	CCDS11675.1																																																																																			T|0.969;C|0.031	0.031	strong		0.473	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		C	66267734	T	C	66267734	2	2	22	1	0	0	0	0	0	0	0	1	14412	1625	57	2		2	SLC16A6	17	66267734	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	348642	66267734	14927476	8984	14092										
SLC16A6	9120	hgsc.bcm.edu	37	chr17	66270082	66270082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttaccagagatgatgccgAtggcgacgtacatatgagaa	11	8	0	3	rs35397826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66270082A>G	ENST00000327268.4	-	4	526	c.362T>C	c.(361-363)aTc>aCc	p.I121T	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I121T	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	121			I -> T (in dbSNP:rs35397826).		monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GATGATGCCGATGGCGACGTA	0.498													A|||	584	0.116613	0.087	0.111	5008	,	,		17538	0.1438		0.1113	False		,,,				2504	0.138				p.I121T		Atlas-SNP	.											.	SLC16A6	56	.	0			c.T362C						PASS	.	A	THR/ILE,THR/ILE,	435,3971	210.8+/-231.2	15,405,1783	90	80	83		362,362,	5.8	0	17	dbSNP_126	83	1066,7534	225.4+/-261.5	67,932,3301	yes	missense,missense,intron	SLC16A6,ARSG	NM_001174166.1,NM_004694.4,NM_014960.3	89,89,	82,1337,5084	GG,GA,AA		12.3953,9.8729,11.5408	benign,benign,	121/524,121/524,	66270082	1501,11505	2203	4300	6503	SO:0001583	missense	9120	exon4			ATGCCGATGGCGA	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.362T>C	17.37:g.66270082A>G	ENSP00000319991:p.Ile121Thr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	53	31	0.584906	NM_001174166	Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	CCDS11675.1	257	0.11767399267399267	46	0.09349593495934959	38	0.10497237569060773	85	0.1486013986013986	88	0.11609498680738786	A	11.15	1.553362	0.27739	0.098729	0.123953	ENSG00000108932	ENST00000327268	T	0.58506	0.33	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.464996	0.21957	N	0.066649	T	0.00468	0.0015	M	0.64567	1.98	0.22581	P	0.99896116	B	0.19073	0.033	B	0.25759	0.063	T	0.10847	-1.0612	9	0.34782	T	0.22	.	15.3361	0.74255	1.0:0.0:0.0:0.0	rs35397826;rs62087131;rs35397826	121	O15403	MOT7_HUMAN	T	121	ENSP00000319991:I121T	ENSP00000319991:I121T	I	-	2	0	SLC16A6	63781677	1.000000	0.71417	0.006000	0.13384	0.018000	0.09664	5.833000	0.69349	2.209000	0.71365	0.533000	0.62120	ATC	A|0.883;G|0.117	0.117	strong		0.498	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		G	66270082	A	G	66270082	3	3	22	1	0	0	0	0	1	0	0	0	14412	333	12	2	1225	2	SLC16A6	17	66270082	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2348	66270082	14925128	8985	14093										
ARSG	22901	hgsc.bcm.edu	37	chr17	66364749	66364749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgcacgtgcccttaccTgtgactcagctaccagcagc	8	16	1	1	rs1558877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66364749T>C	ENST00000448504.2	+	7	1561	c.765T>C	c.(763-765)ccT>ccC	p.P255P	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.P91P	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	255					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCCCTTACCTGTGACTCAGC	0.597													C|||	2561	0.511382	0.6581	0.6167	5008	,	,		18488	0.2708		0.506	False		,,,				2504	0.4918				p.P255P		Atlas-SNP	.											.	ARSG	55	.	0			c.T765C						PASS	.	C		2810,1596	494.5+/-363.0	918,974,311	92	90	91		765	0.5	0	17	dbSNP_88	91	4478,4122	563.6+/-388.2	1176,2126,998	no	coding-synonymous	ARSG	NM_014960.3		2094,3100,1309	CC,CT,TT		47.9302,36.2233,43.9643		255/526	66364749	7288,5718	2203	4300	6503	SO:0001819	synonymous_variant	22901	exon7			CTTACCTGTGACT	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.765T>C	17.37:g.66364749T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_001267727	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																			T|0.481;C|0.519	0.519	strong		0.597	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		C	66364749	T	C	66364749	2	2	22	1	0	0	0	0	0	0	0	1	992	1567	55	3		3	ARSG	17	66364749	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	94667	66364749	14830461	8986	14094										
ARSG	22901	hgsc.bcm.edu	37	chr17	66364804	66364804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgtatggtgcagggctcTgggagatggacagtctggtg	18	7	2	1	rs1558878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66364804T>C	ENST00000448504.2	+	7	1616	c.820T>C	c.(820-822)Tgg>Cgg	p.W274R	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.W110R	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	274			W -> R (in dbSNP:rs1558878).		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAGGGCTCTGGGAGATGGA	0.542													C|||	1800	0.359425	0.3185	0.4424	5008	,	,		21144	0.2351		0.4831	False		,,,				2504	0.3569				p.W274R		Atlas-SNP	.											.	ARSG	55	.	0			c.T820C						PASS	.	C	ARG/TRP	1524,2882	673.2+/-402.8	268,988,947	117	109	112		820	4.3	0.4	17	dbSNP_88	112	4276,4324	579.7+/-390.9	1066,2144,1090	yes	missense	ARSG	NM_014960.3	101	1334,3132,2037	CC,CT,TT		49.7209,34.5892,44.5948	benign	274/526	66364804	5800,7206	2203	4300	6503	SO:0001583	missense	22901	exon7			GGGCTCTGGGAGA	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.820T>C	17.37:g.66364804T>C	ENSP00000407193:p.Trp274Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	108	46	0.425926	NM_001267727	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	807	0.3695054945054945	146	0.2967479674796748	153	0.42265193370165743	144	0.2517482517482518	364	0.48021108179419525	C	0.021	-1.427426	0.01117	0.345892	0.497209	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.26	4.28	0.50868	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.780131	0.12215	N	0.488911	T	0.00012	0.0000	N	0.00325	-1.645	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47142	-0.9140	8	0.15499	T	0.54	.	5.0112	0.14313	0.25:0.5859:0.0:0.1641	rs1558878;rs3744299;rs52799630;rs61503778;rs1558878	274	Q96EG1	ARSG_HUMAN	R	274;173	.	ENSP00000407193:W173R	W	+	1	0	ARSG	63876399	0.021000	0.18746	0.385000	0.26158	0.028000	0.11728	0.486000	0.22340	1.467000	0.48044	-0.119000	0.15052	TGG	T|0.602;C|0.398	0.398	strong		0.542	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		C	66364804	T	C	66364804	3	2	22	1	0	0	0	0	1	0	0	0	992	1580	55	3	842	3	ARSG	17	66364804	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	55	66364804	14830406	8987	14095										
ARSG	22901	hgsc.bcm.edu	37	chr17	66391232	66391232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtgctggacatttttccAactgtggtagccctggccca	11	12	0	0	rs7342975	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66391232A>G	ENST00000448504.2	+	10	1906	c.1110A>G	c.(1108-1110)ccA>ccG	p.P370P	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.P206P	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	370					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACATTTTTCCAACTGTGGTAG	0.592													G|||	575	0.114816	0.2776	0.036	5008	,	,		20652	0.1478		0.0239	False		,,,				2504	0.0102				p.P370P		Atlas-SNP	.											.	ARSG	55	.	0			c.A1110G						PASS	.	G		1140,3266	715.3+/-408.5	152,836,1215	151	118	129		1110	2	1	17	dbSNP_116	129	121,8479	813.8+/-407.0	1,119,4180	no	coding-synonymous	ARSG	NM_014960.3		153,955,5395	GG,GA,AA		1.407,25.8738,9.6955		370/526	66391232	1261,11745	2203	4300	6503	SO:0001819	synonymous_variant	22901	exon10			TTTTCCAACTGTG	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1110A>G	17.37:g.66391232A>G		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	220	104	0.472727	NM_001267727	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																			A|0.894;G|0.106	0.106	strong		0.592	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		G	66391232	A	G	66391232	2	3	22	1	0	0	0	0	0	0	0	1	992	117	5	2		2	ARSG	17	66391232	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26428	66391232	14803978	8988	14096										
ARSG	22901	hgsc.bcm.edu	37	chr17	66397521	66397521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgttccaccccaacagCggggcagctggagagtttgg	15	11	0	1	rs62638719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66397521C>T	ENST00000448504.2	+	11	2029	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.S247S	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	411					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCCCAACAGCGGGGCAGCTG	0.557													C|||	11	0.00219649	0.0083	0.0	5008	,	,		19346	0.0		0.0	False		,,,				2504	0.0				p.S411S		Atlas-SNP	.											ARSG,NS,carcinoma,+1,1	ARSG	55	1	0			c.C1233T						PASS	.	C		65,4341	60.5+/-97.4	0,65,2138	90	90	90		1233	-10	0.1	17	dbSNP_129	90	0,8600		0,0,4300	no	coding-synonymous	ARSG	NM_014960.3		0,65,6438	TT,TC,CC		0.0,1.4753,0.4998		411/526	66397521	65,12941	2203	4300	6503	SO:0001819	synonymous_variant	22901	exon11			CAACAGCGGGGCA	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1233C>T	17.37:g.66397521C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	173	105	0.606936	NM_001267727	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																			C|0.996;T|0.004	0.004	strong		0.557	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		T	66397521	C	T	66397521	2	4	22	1	0	0	0	0	0	0	0	1	992	767	27	1		1	ARSG	17	66397521	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6289	66397521	14797689	8989	14097										
ARSG	22901	hgsc.bcm.edu	37	chr17	66416511	66416511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctccaagacattgccaaCgacaacatctccagcgcaga	7	15	1	2	rs35268505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66416511C>T	ENST00000448504.2	+	12	2281	c.1485C>T	c.(1483-1485)aaC>aaT	p.N495N	ARSG_ENST00000452479.2_Silent_p.N331N|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'Flank|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	495					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACATTGCCAACGACAACATCT	0.552													C|||	79	0.0157748	0.0575	0.0043	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.0				p.N495N		Atlas-SNP	.											.	ARSG	55	.	0			c.C1485T						PASS	.	C		231,4175	136.5+/-172.5	2,227,1974	189	180	183		1485	-11.8	0	17	dbSNP_126	183	0,8600		0,0,4300	no	coding-synonymous	ARSG	NM_014960.3		2,227,6274	TT,TC,CC		0.0,5.2429,1.7761		495/526	66416511	231,12775	2203	4300	6503	SO:0001819	synonymous_variant	22901	exon12			TGCCAACGACAAC	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1485C>T	17.37:g.66416511C>T		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	240	125	0.520833	NM_001267727	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																			C|0.981;T|0.019	0.019	strong		0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		T	66416511	C	T	66416511	2	4	22	1	0	0	0	0	0	0	0	1	992	535	19	1		1	ARSG	17	66416511	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18990	66416511	14778699	8990	14098										
ABCA8	10351	hgsc.bcm.edu	37	chr17	66928460	66928460	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcccgaagacccatcattgTcatcaaggccttcatccttt					rs16973446	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66928460T>C	ENST00000269080.2	-	6	903	c.766A>G	c.(766-768)Aca>Gca	p.T256A	ABCA8_ENST00000586539.1_Missense_Mutation_p.T256A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T256A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	256			T -> A (in dbSNP:rs16973446).		transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCATCATTGTCATCAAGGCC	0.393													T|||	383	0.0764776	0.2738	0.0231	5008	,	,		20528	0.0		0.005	False		,,,				2504	0.0				p.T256A		Atlas-SNP	.											.	ABCA8	213	.	0			c.A766G						PASS	.	T	ALA/THR	1058,3348	384.9+/-325.5	129,800,1274	86	79	81		766	2.6	0.5	17	dbSNP_123	81	17,8583	12.6+/-44.7	0,17,4283	yes	missense	ABCA8	NM_007168.2	58	129,817,5557	CC,CT,TT		0.1977,24.0127,8.2654	benign	256/1582	66928460	1075,11931	2203	4300	6503	SO:0001583	missense	10351	exon6			TCATTGTCATCAA	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.766A>G	17.37:g.66928460T>C	ENSP00000269080:p.Thr256Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	91	40	0.43956	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	140	0.0641025641025641	128	0.2601626016260163	10	0.027624309392265192	0	0.0	2	0.002638522427440633	T	9.995	1.231776	0.22626	0.240127	0.001977	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.82344	-1.6;-1.6	4.85	2.63	0.31362	.	1.596760	0.03628	N	0.237455	T	0.00039	0.0001	N	0.26130	0.795	0.47407	P	5.819999999999714E-4	B;B;B;B;B	0.22146	0.065;0.02;0.036;0.003;0.02	B;B;B;B;B	0.21360	0.03;0.02;0.021;0.012;0.034	T	0.04041	-1.0982	9	0.42905	T	0.14	.	6.2716	0.20956	0.0:0.1989:0.0:0.8011	rs16973446;rs16973446	195;256;256;256;256	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	A	256;256;195;256	ENSP00000269080:T256A;ENSP00000402814:T256A	ENSP00000269080:T256A	T	-	1	0	ABCA8	64440055	0.856000	0.29760	0.510000	0.27712	0.553000	0.35397	1.060000	0.30530	0.444000	0.26612	-0.385000	0.06624	ACA	T|0.915;C|0.085	0.085	strong		0.393	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		C	66928460	T	C	66928460	3	2	22	1	0	0	0	0	1	0	0	0	38	1667	58	2	4111	2	ABCA8	17	66928460	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	511949	66928460	14266750	8991	14099	291	3								
ABCA8	10351	hgsc.bcm.edu	37	chr17	66928468	66928468	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccatcattgtcatcaagGccttcatccttttcctctct					rs62638729|rs386798698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66928468G>C	ENST00000269080.2	-	6	895	c.758C>G	c.(757-759)gCc>gGc	p.A253G	ABCA8_ENST00000586539.1_Missense_Mutation_p.A253G|ABCA8_ENST00000430352.2_Missense_Mutation_p.A253G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	253					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTCATCAAGGCCTTCATCCT	0.388													C|||	380	0.0758786	0.2716	0.0231	5008	,	,		20420	0.0		0.005	False		,,,				2504	0.0				p.A253G		Atlas-SNP	.											.	ABCA8	213	.	0			c.C758G						PASS	.						89	81	84					17																	66928468		2203	4300	6503	SO:0001583	missense	10351	exon6			ATCAAGGCCTTCA	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.758C>G	17.37:g.66928468G>C	ENSP00000269080:p.Ala253Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	132	0.06043956043956044	120	0.24390243902439024	10	0.027624309392265192	0	0.0	2	0.002638522427440633	C	5.598	0.295055	0.10622	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.87571	-2.27;-2.27	4.85	-0.973	0.10297	.	0.589518	0.15272	N	0.271169	T	0.00039	0.0001	N	0.00483	-1.445	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.18398	-1.0338	10	0.52906	T	0.07	.	6.2111	0.20630	0.1354:0.2547:0.5285:0.0813	rs62638729	192;253;253;253;253	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	G	253;253;192;253	ENSP00000269080:A253G;ENSP00000402814:A253G	ENSP00000269080:A253G	A	-	2	0	ABCA8	64440063	0.000000	0.05858	0.000000	0.03702	0.505000	0.33919	-0.762000	0.04745	-0.174000	0.10743	-0.224000	0.12420	GCC	G|0.945;C|0.055	0.055	strong		0.388	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		C	66928468	G	C	66928468	3	2	22	1	0	0	0	0	1	0	0	0	38	1203	42	4	4119	4	ABCA8	17	66928468	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8	66928468	14266742	8992	14100	291	3								
ABCA8	10351	hgsc.bcm.edu	37	chr17	66928470	66928470	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatcattgtcatcaaggcCttcatccttttcctctctct					rs28385895|rs386798698|rs202032826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66928470C>T	ENST00000269080.2	-	6	893	c.756G>A	c.(754-756)aaG>aaA	p.K252K	ABCA8_ENST00000430352.2_Silent_p.K252K|ABCA8_ENST00000586539.1_Silent_p.K252K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	252					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATCAAGGCCTTCATCCTTT	0.393													C|||	383	0.0764776	0.2738	0.0231	5008	,	,		20456	0.0		0.005	False		,,,				2504	0.0				p.K252K		Atlas-SNP	.											.	ABCA8	213	.	0			c.G756A						PASS	.																																			SO:0001819	synonymous_variant	10351	exon6			CAAGGCCTTCATC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.756G>A	17.37:g.66928470C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																			C|0.959;T|0.041	0.041	strong		0.393	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66928470	C	T	66928470	2	4	22	1	0	0	0	0	0	0	0	1	38	680	24	2		2	ABCA8	17	66928470	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	66928470	14266740	8993	14101	291	3								
ABCA8	10351	hgsc.bcm.edu	37	chr17	66938141	66938141	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgcataataaggcccaaGtttgttgacacacactgatc	7	10	1	2	rs35643726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:66938141G>C	ENST00000269080.2	-	2	172	c.35C>G	c.(34-36)aCt>aGt	p.T12S	ABCA8_ENST00000586539.1_Missense_Mutation_p.T12S|ABCA8_ENST00000430352.2_Missense_Mutation_p.T12S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	12					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAAGGCCCAAGTTTGTTGACA	0.294													G|||	102	0.0203674	0.0719	0.0072	5008	,	,		20789	0.0		0.0	False		,,,				2504	0.002				p.T12S		Atlas-SNP	.											ABCA8,NS,carcinoma,+1,2	ABCA8	213	2	0			c.C35G						scavenged	.	G	SER/THR	291,4115	160.0+/-192.4	10,271,1922	193	187	189		35	4.8	0.9	17	dbSNP_126	189	7,8589	5.7+/-21.5	0,7,4291	yes	missense	ABCA8	NM_007168.2	58	10,278,6213	CC,CG,GG		0.0814,6.6046,2.292	probably-damaging	12/1582	66938141	298,12704	2203	4298	6501	SO:0001583	missense	10351	exon2			GCCCAAGTTTGTT	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.35C>G	17.37:g.66938141G>C	ENSP00000269080:p.Thr12Ser	Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	85	44	0.517647	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	36	0.016483516483516484	32	0.06504065040650407	4	0.011049723756906077	0	0.0	0	0.0	G	16.70	3.195689	0.58126	0.066046	8.14E-4	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000428549	D;D	0.86694	-2.15;-2.16	4.84	4.84	0.62591	.	0.167779	0.28760	N	0.014225	T	0.64283	0.2584	M	0.87456	2.885	0.29290	N	0.869437	D;D;D;D	0.89917	0.996;1.0;0.999;0.999	D;D;D;D	0.72338	0.91;0.977;0.975;0.945	T	0.75422	-0.3323	10	0.66056	D	0.02	.	13.2834	0.60228	0.0:0.0:1.0:0.0	rs35643726	12;12;12;12	A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	S	12	ENSP00000269080:T12S;ENSP00000402814:T12S	ENSP00000269080:T12S	T	-	2	0	ABCA8	64449736	0.998000	0.40836	0.892000	0.35008	0.606000	0.37113	3.507000	0.53371	2.505000	0.84491	0.650000	0.86243	ACT	G|0.980;C|0.020	0.020	strong		0.294	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		C	66938141	G	C	66938141	3	2	22	1	0	0	0	0	1	0	0	0	38	1029	36	4	4858	4	ABCA8	17	66938141	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9671	66938141	14257069	8994	14102										
ABCA9	10350	hgsc.bcm.edu	37	chr17	67031882	67031882	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgtgcagattttacaatAagagccattaaagtggccat	8	6	0	2	rs16973534	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:67031882A>G	ENST00000340001.4	-	7	1072	c.861T>C	c.(859-861)ctT>ctC	p.L287L	ABCA9_ENST00000370732.2_Silent_p.L287L|ABCA9_ENST00000453985.2_Silent_p.L287L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	287					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTTTACAATAAGAGCCATTA	0.423													A|||	141	0.028155	0.1036	0.0058	5008	,	,		16263	0.0		0.0	False		,,,				2504	0.0				p.L287L		Atlas-SNP	.											.	ABCA9	192	.	0			c.T861C						PASS	.	A		442,3964	213.8+/-233.3	27,388,1788	71	67	68		861	-1.6	0	17	dbSNP_123	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ABCA9	NM_080283.3		27,391,6085	GG,GA,AA		0.0349,10.0318,3.4215		287/1625	67031882	445,12561	2203	4300	6503	SO:0001819	synonymous_variant	10350	exon7			TACAATAAGAGCC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.861T>C	17.37:g.67031882A>G		Somatic	435	0	0		WXS	Illumina HiSeq	Phase_I	430	196	0.455814	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																			A|0.970;G|0.030	0.030	strong		0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		G	67031882	A	G	67031882	2	3	22	1	0	0	0	0	0	0	0	1	39	349	13	2		2	ABCA9	17	67031882	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	93741	67031882	14163328	8995	14103										
ABCA6	23460	hgsc.bcm.edu	37	chr17	67109493	67109493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtagttggttcatctaaAagcaaaatctacagagaatg	8	7	3	1	rs2058128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:67109493A>G	ENST00000284425.2	-	15	2085	c.1911T>C	c.(1909-1911)ctT>ctC	p.L637L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	637	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTTCATCTAAAAGCAAAATCT	0.363													G|||	631	0.125998	0.4531	0.0447	5008	,	,		20176	0.0		0.001	False		,,,				2504	0.0				p.L637L		Atlas-SNP	.											.	ABCA6	210	.	0			c.T1911C						PASS	.	G		1650,2756	653.9+/-399.7	293,1064,846	57	56	57		1911	-4	0.7	17	dbSNP_94	57	11,8587	817.7+/-406.9	0,11,4288	no	coding-synonymous	ABCA6	NM_080284.2		293,1075,5134	GG,GA,AA		0.1279,37.4489,12.773		637/1618	67109493	1661,11343	2203	4299	6502	SO:0001819	synonymous_variant	23460	exon15			ATCTAAAAGCAAA	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.1911T>C	17.37:g.67109493A>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	30	0.46875	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																			A|0.876;G|0.124	0.124	strong		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		G	67109493	A	G	67109493	2	3	22	1	0	0	0	0	0	0	0	1	36	1	1	2		2	ABCA6	17	67109493	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	77611	67109493	14085717	8996	14104										
ABCA10	10349	hgsc.bcm.edu	37	chr17	67212046	67212046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctatataacacagtgaaTcccagacatccccaaaatac	4	12	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:67212046T>C	ENST00000269081.4	-	9	1677	c.768A>G	c.(766-768)ggA>ggG	p.G256G	ABCA10_ENST00000416101.2_Silent_p.G256G|ABCA10_ENST00000432313.2_Silent_p.G256G	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	256					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)					ACACAGTGAATCCCAGACATC	0.418																																					p.G256G		Atlas-SNP	.											ABCA10,NS,carcinoma,0,1	ABCA10	209	1	0			c.A768G						scavenged	.						74	74	74					17																	67212046		2203	4300	6503	SO:0001819	synonymous_variant	10349	exon9			AGTGAATCCCAGA	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.768A>G	17.37:g.67212046T>C		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	202	4	0.019802	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																			.	.	none		0.418	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		C	67212046	T	C	67212046	2	2	22	1	0	0	0	0	0	0	0	1	29	1422	50	2		2	ABCA10	17	67212046	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	102553	67212046	13983164	8997	14105										
KCNJ2	3759	hgsc.bcm.edu	37	chr17	68172326	68172326	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaaaatgaagttgccctCacaagcaaagaggaagacga	10	7	1	4	rs173135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:68172326C>T	ENST00000243457.3	+	2	1529	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	KCNJ2_ENST00000535240.1_Silent_p.L382L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	382					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGTTGCCCTCACAAGCAAAG	0.448													C|||	771	0.153954	0.1551	0.2392	5008	,	,		20815	0.131		0.1203	False		,,,				2504	0.1503				p.L382L		Atlas-SNP	.											.	KCNJ2	74	.	0			c.C1146T						PASS	.	C		574,3832	251.8+/-258.4	35,504,1664	121	123	122		1146	3	1	17	dbSNP_79	122	1020,7580	214.9+/-254.4	63,894,3343	no	coding-synonymous	KCNJ2	NM_000891.2		98,1398,5007	TT,TC,CC		11.8605,13.0277,12.2559		382/428	68172326	1594,11412	2203	4300	6503	SO:0001819	synonymous_variant	3759	exon2			TGCCCTCACAAGC	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1146C>T	17.37:g.68172326C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	82	38	0.463415	NM_000891	O15110|P48049	Silent	SNP	ENST00000243457.3	37	CCDS11688.1																																																																																			C|0.867;T|0.133	0.133	strong		0.448	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		T	68172326	C	T	68172326	2	4	22	1	0	0	0	0	0	0	0	1	8051	813	29	2		2	KCNJ2	17	68172326	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	960280	68172326	13022884	8998	14106										
SOX9	6662	hgsc.bcm.edu	37	chr17	70118935	70118935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcagcacaagaaggaccaCccggattacaagtaccagcc	10	13	0	1	rs2229989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:70118935C>T	ENST00000245479.2	+	2	879	c.507C>T	c.(505-507)caC>caT	p.H169H		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	169					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGAAGGACCACCCGGATTACA	0.682													C|||	684	0.136581	0.0416	0.1254	5008	,	,		11960	0.0139		0.2465	False		,,,				2504	0.2863				p.H169H	Pancreas(42;83 1041 2320 35205 39456)	Atlas-SNP	.											SOX9,NS,carcinoma,0,1	SOX9	91	1	0			c.C507T						PASS	.	C		309,4097	165.8+/-197.2	13,283,1907	54	56	55	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	507	1.6	1	17	dbSNP_98	55	1854,6746	325.5+/-317.0	210,1434,2656	no	coding-synonymous	SOX9	NM_000346.3		223,1717,4563	TT,TC,CC		21.5581,7.0132,16.6308		169/510	70118935	2163,10843	2203	4300	6503	SO:0001819	synonymous_variant	6662	exon2			GGACCACCCGGAT	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.507C>T	17.37:g.70118935C>T		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	274	118	0.430657	NM_000346	Q53Y80	Silent	SNP	ENST00000245479.2	37	CCDS11689.1																																																																																			C|0.848;T|0.152	0.152	strong		0.682	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		T	70118935	C	T	70118935	2	4	22	1	0	0	0	0	0	0	0	1	14958	506	18	2		2	SOX9	17	70118935	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1946609	70118935	11076275	8999	14107										
SLC39A11	201266	hgsc.bcm.edu	37	chr17	70645366	70645366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaaggctgacagccaggCcctcggggaaattctggatc	15	10	1	1	rs115567758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:70645366C>G	ENST00000542342.2	-	8	822	c.734G>C	c.(733-735)gGc>gCc	p.G245A	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.G238A	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	245					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GACAGCCAGGCCCTCGGGGAA	0.557													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21013	0.0		0.0	False		,,,				2504	0.0				p.G245A	NSCLC(95;736 1527 12296 39625 41839)	Atlas-SNP	.											.	SLC39A11	32	.	0			c.G734C						PASS	.	C	ALA/GLY,ALA/GLY	25,4381	29.9+/-59.1	0,25,2178	47	51	50		734,713	5.1	1	17	dbSNP_132	50	0,8600		0,0,4300	yes	missense,missense	SLC39A11	NM_001159770.1,NM_139177.3	60,60	0,25,6478	GG,GC,CC		0.0,0.5674,0.1922	probably-damaging,probably-damaging	245/343,238/336	70645366	25,12981	2203	4300	6503	SO:0001583	missense	201266	exon8			GCCAGGCCCTCGG	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.734G>C	17.37:g.70645366C>G	ENSP00000445829:p.Gly245Ala	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001159770	B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	CCDS54160.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.55	2.865881	0.51588	0.005674	0.0	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.48836	0.8;0.8	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85832	0.1392	10	0.87932	D	0	.	18.3766	0.90437	0.0:1.0:0.0:0.0	.	245;238	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	A	245;238	ENSP00000445829:G245A;ENSP00000255559:G238A	ENSP00000255559:G238A	G	-	2	0	SLC39A11	68156961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.013000	0.76373	2.504000	0.84457	0.655000	0.94253	GGC	C|0.999;G|0.001	0.001	strong		0.557	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			G	70645366	C	G	70645366	3	3	22	1	0	0	0	0	1	0	0	0	14614	739	26	4	306	4	SLC39A11	17	70645366	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	526431	70645366	10549844	9000	14108										
TTYH2	94015	hgsc.bcm.edu	37	chr17	72227040	72227040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttatagtgctgcggtgggcGttggtttctatggaaacagc	14	7	1	0	rs150215307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72227040G>A	ENST00000269346.4	+	3	390	c.316G>A	c.(316-318)Gtt>Att	p.V106I	TTYH2_ENST00000529107.1_Missense_Mutation_p.V85I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	106						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGCGGTGGGCGTTGGTTTCTA	0.483													g|||	23	0.00459265	0.0159	0.0014	5008	,	,		20070	0.0		0.0	False		,,,				2504	0.001				p.V106I		Atlas-SNP	.											.	TTYH2	63	.	0			c.G316A						PASS	.	A	ILE/VAL	58,4348	56.2+/-92.4	0,58,2145	174	137	150		316	3.4	0.9	17	dbSNP_134	150	2,8598	1.2+/-3.3	0,2,4298	yes	missense	TTYH2	NM_032646.5	29	0,60,6443	AA,AG,GG		0.0233,1.3164,0.4613	benign	106/535	72227040	60,12946	2203	4300	6503	SO:0001583	missense	94015	exon3			GTGGGCGTTGGTT		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.316G>A	17.37:g.72227040G>A	ENSP00000269346:p.Val106Ile	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	162	59	0.364198	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	g	8.083	0.772809	0.16051	0.013164	2.33E-4	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.12984	2.63;2.63	5.35	3.38	0.38709	.	0.185685	0.46758	N	0.000263	T	0.06234	0.0161	L	0.41961	1.31	0.80722	D	1	B;B	0.33857	0.429;0.092	B;B	0.28305	0.088;0.037	T	0.24870	-1.0148	10	0.13470	T	0.59	-8.4172	7.2697	0.26250	0.3324:0.0:0.6676:0.0	.	85;106	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	I	106;85	ENSP00000269346:V106I;ENSP00000433089:V85I	ENSP00000269346:V106I	V	+	1	0	TTYH2	69738635	0.567000	0.26626	0.943000	0.38184	0.688000	0.40055	1.396000	0.34531	0.658000	0.30925	-0.119000	0.15052	GTT	G|0.995;A|0.005	0.005	strong		0.483	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			A	72227040	G	A	72227040	3	1	22	1	0	0	0	0	1	0	0	0	16737	1145	40	1	326	1	TTYH2	17	72227040	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1581674	72227040	8968170	9001	14109										
TTYH2	94015	hgsc.bcm.edu	37	chr17	72248482	72248482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctccaccatgatctgtgCagggccaagggcctggaagc	12	13	2	1	rs9892705|rs386799126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72248482C>A	ENST00000269346.4	+	11	1300	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	TTYH2_ENST00000529107.1_Missense_Mutation_p.A388E|TTYH2_ENST00000441391.2_Missense_Mutation_p.A88E	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	409			A -> E (in dbSNP:rs9892705).			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATGATCTGTGCAGGGCCAAGG	0.637													C|||	295	0.0589058	0.0855	0.0187	5008	,	,		18201	0.0139		0.0268	False		,,,				2504	0.1309				p.A409E		Atlas-SNP	.											TTYH2,NS,carcinoma,-1,1	TTYH2	63	1	0			c.C1226A						PASS	.																																			SO:0001583	missense	94015	exon11			TCTGTGCAGGGCC		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1226C>A	17.37:g.72248482C>A	ENSP00000269346:p.Ala409Glu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	63	28	0.444444	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	72	0.03296703296703297	45	0.09146341463414634	5	0.013812154696132596	8	0.013986013986013986	14	0.018469656992084433	C	13.77	2.334926	0.41297	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.12672	2.66;2.66;2.66	5.79	-0.188	0.13264	.	0.267026	0.42172	D	0.000749	T	0.01061	0.0035	M	0.75447	2.3	0.20873	N	0.999837	D;P	0.61080	0.989;0.933	P;P	0.61940	0.896;0.799	T	0.01130	-1.1442	10	0.87932	D	0	-1.7086	10.0355	0.42127	0.0:0.616:0.0:0.384	rs9892705;rs9892705	388;409	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	E	409;388;88	ENSP00000269346:A409E;ENSP00000433089:A388E;ENSP00000394576:A88E	ENSP00000269346:A409E	A	+	2	0	TTYH2	69760077	0.001000	0.12720	0.000000	0.03702	0.081000	0.17604	0.353000	0.20130	-0.213000	0.10094	-0.748000	0.03510	GCA	C|0.959;A|0.041	0.041	strong		0.637	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			A	72248482	C	A	72248482	3	1	22	1	0	0	0	0	1	0	0	0	16737	710	25	4	1268	4	TTYH2	17	72248482	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21442	72248482	8946728	9002	14110										
DNAI2	64446	hgsc.bcm.edu	37	chr17	72278080	72278080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagctggccgagcagttcGtggagcggaacccagtggac	16	11	0	1	rs151176313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72278080G>A	ENST00000311014.6	+	2	191	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	DNAI2_ENST00000579490.1_Missense_Mutation_p.V99M|DNAI2_ENST00000446837.2_Missense_Mutation_p.V42M|DNAI2_ENST00000582036.1_Missense_Mutation_p.V42M|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	42					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGCAGTTCGTGGAGCGGAA	0.632									Kartagener syndrome				G|||	23	0.00459265	0.0083	0.0	5008	,	,		18520	0.0089		0.0	False		,,,				2504	0.0031				p.V42M		Atlas-SNP	.											.	DNAI2	102	.	0			c.G124A						PASS	.	G	MET/VAL,MET/VAL	47,4359	48.9+/-83.8	0,47,2156	136	117	123		124,124	2.1	1	17	dbSNP_134	123	0,8600		0,0,4300	yes	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	21,21	0,47,6456	AA,AG,GG		0.0,1.0667,0.3614	benign,benign	42/594,42/606	72278080	47,12959	2203	4300	6503	SO:0001583	missense	64446	exon2	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CAGTTCGTGGAGC	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.124G>A	17.37:g.72278080G>A	ENSP00000308312:p.Val42Met	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	152	75	0.493421	NM_001172810	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	11	0.005036630036630037	5	0.01016260162601626	0	0.0	6	0.01048951048951049	0	0.0	G	13.85	2.360905	0.41801	0.010667	0.0	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.68903	-0.36;-0.36	5.22	2.1	0.27182	.	0.434461	0.25319	N	0.031531	T	0.48995	0.1531	L	0.55103	1.725	0.80722	D	1	B	0.25609	0.13	B	0.18561	0.022	T	0.51212	-0.8734	10	0.56958	D	0.05	-34.5277	8.8263	0.35057	0.449:0.0:0.551:0.0	.	42	Q9GZS0	DNAI2_HUMAN	M	42	ENSP00000308312:V42M;ENSP00000400252:V42M	ENSP00000308312:V42M	V	+	1	0	DNAI2	69789675	0.064000	0.20934	0.991000	0.47740	0.995000	0.86356	0.516000	0.22817	0.338000	0.23692	0.644000	0.83932	GTG	G|0.996;A|0.004	0.004	strong		0.632	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		A	72278080	G	A	72278080	3	1	22	1	0	0	0	0	1	0	0	0	4610	1145	40	1	126	1	DNAI2	17	72278080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29598	72278080	8917130	9003	14111										
DNAI2	64446	hgsc.bcm.edu	37	chr17	72306239	72306239	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagctggggacaaccacCctgctggaggtctcgcctgg	13	15	1	0	rs144035254	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72306239C>G	ENST00000311014.6	+	11	1498	c.1431C>G	c.(1429-1431)acC>acG	p.T477T	AC103809.1_ENST00000516976.1_RNA|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000579490.1_Silent_p.T534T|DNAI2_ENST00000446837.2_Silent_p.T477T|DNAI2_ENST00000582036.1_Silent_p.T465T|DNAI2_ENST00000307504.5_Silent_p.T334T			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	477					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACAACCACCCTGCTGGAGG	0.627									Kartagener syndrome				C|||	27	0.00539137	0.0204	0.0	5008	,	,		12200	0.0		0.0	False		,,,				2504	0.0				p.T477T		Atlas-SNP	.											.	DNAI2	102	.	0			c.C1431G						PASS	.	C	,	65,4341	61.1+/-98.1	1,63,2139	53	49	50		1395,1431	-4.8	0.9	17	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAI2	NM_001172810.1,NM_023036.4	,	1,64,6438	GG,GC,CC		0.0116,1.4753,0.5075	,	465/594,477/606	72306239	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	64446	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AACCACCCTGCTG	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1431C>G	17.37:g.72306239C>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	72	30	0.416667	NM_023036	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	CCDS11697.1																																																																																			C|0.996;G|0.004	0.004	strong		0.627	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		G	72306239	C	G	72306239	2	3	22	1	0	0	0	0	0	0	0	1	4610	610	22	4		4	DNAI2	17	72306239	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28159	72306239	8888971	9004	14112										
KIF19	124602	hgsc.bcm.edu	37	chr17	72340965	72340965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacggccgccaaccagacGtcctcccgctcccacgcggt	9	22	0	1	rs34914485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72340965G>A	ENST00000389916.4	+	7	786	c.648G>A	c.(646-648)acG>acA	p.T216T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	216	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAACCAGACGTCCTCCCGCT	0.662													G|||	182	0.0363419	0.1278	0.0144	5008	,	,		16134	0.0		0.0	False		,,,				2504	0.0031				p.T216T		Atlas-SNP	.											.	KIF19	102	.	0			c.G648A						PASS	.	G		498,3906	217.4+/-235.8	20,458,1724	38	40	39		648	-4.4	1	17	dbSNP_126	39	10,8588	6.4+/-24.3	0,10,4289	no	coding-synonymous	KIF19	NM_153209.3		20,468,6013	AA,AG,GG		0.1163,11.3079,3.9071		216/999	72340965	508,12494	2202	4299	6501	SO:0001819	synonymous_variant	124602	exon7			CCAGACGTCCTCC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.648G>A	17.37:g.72340965G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	156	80	0.512821	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																			G|0.965;A|0.035	0.035	strong		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72340965	G	A	72340965	2	1	22	1	0	0	0	0	0	0	0	1	8282	1132	40	1		1	KIF19	17	72340965	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	34726	72340965	8854245	9005	14113										
KIF19	124602	hgsc.bcm.edu	37	chr17	72349040	72349040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagtgtgaagacattgagCtctgatgcccagcacctgca	12	10	1	5	rs9897137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72349040C>T	ENST00000389916.4	+	15	2199	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	687					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACATTGAGCTCTGATGCCC	0.632													C|||	1558	0.311102	0.7519	0.232	5008	,	,		18662	0.0813		0.1819	False		,,,				2504	0.1411				p.S687S		Atlas-SNP	.											.	KIF19	102	.	0			c.C2061T						PASS	.	C		2557,1485		817,923,281	94	101	99		2061	-2.5	0	17	dbSNP_119	99	1457,6917		123,1211,2853	no	coding-synonymous	KIF19	NM_153209.3		940,2134,3134	TT,TC,CC		17.3991,36.7392,32.3293		687/999	72349040	4014,8402	2021	4187	6208	SO:0001819	synonymous_variant	124602	exon15			ATTGAGCTCTGAT	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2061C>T	17.37:g.72349040C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																			C|0.737;T|0.263	0.263	strong		0.632	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		T	72349040	C	T	72349040	2	4	22	1	0	0	0	0	0	0	0	1	8282	796	28	2		2	KIF19	17	72349040	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8075	72349040	8846170	9006	14114										
KIF19	124602	hgsc.bcm.edu	37	chr17	72350362	72350362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggccgcccggcggcgctcGcgggccctgggaaccgaggg	19	15	0	0	rs72852235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72350362G>A	ENST00000389916.4	+	18	2508	c.2370G>A	c.(2368-2370)tcG>tcA	p.S790S	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	790					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGCGGCGCTCGCGGGCCCTGG	0.682													G|||	1277	0.254992	0.1051	0.3012	5008	,	,		14395	0.3452		0.2803	False		,,,				2504	0.3057				p.S790S		Atlas-SNP	.											KIF19,NS,carcinoma,0,1	KIF19	102	1	0			c.G2370A						PASS	.	G		461,3551		32,397,1577	35	46	42		2370	-10.1	0.3	17	dbSNP_130	42	2350,5960		329,1692,2134	no	coding-synonymous	KIF19	NM_153209.3		361,2089,3711	AA,AG,GG		28.2792,11.4905,22.8129		790/999	72350362	2811,9511	2006	4155	6161	SO:0001819	synonymous_variant	124602	exon18			GCGCTCGCGGGCC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2370G>A	17.37:g.72350362G>A		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	36	14	0.388889	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																			G|0.736;A|0.264	0.264	strong		0.682	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350362	G	A	72350362	2	1	22	1	0	0	0	0	0	0	0	1	8282	1074	38	1		1	KIF19	17	72350362	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1322	72350362	8844848	9007	14115										
KIF19	124602	hgsc.bcm.edu	37	chr17	72350412	72350412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggcacccgcgacagagcGcagcagcctgtccctgcact	12	17	0	1	rs2271535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72350412G>A	ENST00000389916.4	+	18	2558	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	807			R -> H (in dbSNP:rs2271535).		ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACAGAGCGCAGCAGCCTG	0.711													G|||	1718	0.343051	0.0756	0.4207	5008	,	,		13893	0.4008		0.4712	False		,,,				2504	0.4581				p.R807H		Atlas-SNP	.											KIF19,NS,carcinoma,0,1	KIF19	102	1	0			c.G2420A						PASS	.	G	HIS/ARG	571,3475		68,435,1520	16	22	20		2420	1.8	1	17	dbSNP_100	20	3907,4455		949,2009,1223	yes	missense	KIF19	NM_153209.3	29	1017,2444,2743	AA,AG,GG		46.7233,14.1127,36.0896	possibly-damaging	807/999	72350412	4478,7930	2023	4181	6204	SO:0001583	missense	124602	exon18			CAGAGCGCAGCAG	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2420G>A	17.37:g.72350412G>A	ENSP00000374566:p.Arg807His	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	18	8	0.444444	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	790	0.3617216117216117	40	0.08130081300813008	149	0.4116022099447514	242	0.4230769230769231	359	0.4736147757255937	G	12.77	2.036734	0.35893	0.141127	0.467233	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	5.06	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.41050	P	0.014703000000000022	B	0.13594	0.008	B	0.06405	0.002	T	0.38351	-0.9665	8	0.37606	T	0.19	.	6.784	0.23664	0.2165:0.2365:0.547:0.0	rs2271535;rs58995647	807	Q2TAC6	KIF19_HUMAN	H	807	ENSP00000374566:R807H	ENSP00000374566:R807H	R	+	2	0	KIF19	69862007	1.000000	0.71417	0.967000	0.41034	0.417000	0.31264	1.286000	0.33273	1.141000	0.42275	0.556000	0.70494	CGC	G|0.631;A|0.369	0.369	strong		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350412	G	A	72350412	3	1	22	1	0	0	0	0	1	0	0	0	8282	1087	38	1	2490	1	KIF19	17	72350412	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	50	72350412	8844798	9008	14116										
KIF19	124602	hgsc.bcm.edu	37	chr17	72351024	72351024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccctggtatccggcatcTgggaaaggtcacgctacctt	11	13	2	0	rs9891620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72351024T>C	ENST00000389916.4	+	19	2948	c.2810T>C	c.(2809-2811)cTg>cCg	p.L937P	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	937			L -> P (in dbSNP:rs9891620).		ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCCGGCATCTGGGAAAGGTC	0.632													T|||	847	0.169129	0.3041	0.1729	5008	,	,		18686	0.0397		0.1342	False		,,,				2504	0.1534				p.L937P		Atlas-SNP	.											.	KIF19	102	.	0			c.T2810C						PASS	.	T	PRO/LEU	1116,2870		151,814,1028	25	28	27		2810	0.1	0.4	17	dbSNP_119	27	1074,7220		63,948,3136	yes	missense	KIF19	NM_153209.3	98	214,1762,4164	CC,CT,TT		12.9491,27.998,17.8339	benign	937/999	72351024	2190,10090	1993	4147	6140	SO:0001583	missense	124602	exon19			GGCATCTGGGAAA	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2810T>C	17.37:g.72351024T>C	ENSP00000374566:p.Leu937Pro	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	120	61	0.508333	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	350	0.16025641025641027	141	0.2865853658536585	66	0.18232044198895028	27	0.0472027972027972	116	0.15303430079155672	T	3.804	-0.041038	0.07452	0.27998	0.129491	ENSG00000196169	ENST00000389916	T	0.70045	-0.45	5.03	0.0507	0.14294	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.11690	-1.0577	8	0.37606	T	0.19	.	4.4225	0.11488	0.0:0.3067:0.1675:0.5258	rs9891620;rs59029600;rs9891620	937	Q2TAC6	KIF19_HUMAN	P	937	ENSP00000374566:L937P	ENSP00000374566:L937P	L	+	2	0	KIF19	69862619	0.000000	0.05858	0.423000	0.26634	0.051000	0.14879	-0.122000	0.10627	0.295000	0.22570	-0.387000	0.06579	CTG	T|0.855;C|0.145	0.145	strong		0.632	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		C	72351024	T	C	72351024	3	2	22	1	0	0	0	0	1	0	0	0	8282	1580	55	3	2884	3	KIF19	17	72351024	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	612	72351024	8844186	9009	14117										
CD300LD	100131439	hgsc.bcm.edu	37	chr17	72584764	72584764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccatggtcacggtgaacaCgtggtttttctgattgtccc	10	11	2	2	rs783239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72584764C>T	ENST00000375352.1	-	2	345	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	C17orf77_ENST00000392620.1_Intron|C17orf77_ENST00000328023.2_5'Flank	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	89	Ig-like V-type.		V -> M (in dbSNP:rs783239).		immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V89M(1)		large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ACGGTGAACACGTGGTTTTTC	0.423													T|||	1715	0.342452	0.6604	0.2161	5008	,	,		24754	0.249		0.1829	False		,,,				2504	0.2628				p.V89M		Atlas-SNP	.											CD300LD,NS,carcinoma,0,1	CD300LD	16	1	1	Substitution - Missense(1)	stomach(1)	c.G265A						PASS	.	T	MET/VAL,	1777,1359		504,769,295	370	303	324		265,	-0.5	0	17	dbSNP_86	324	1529,5635		168,1193,2221	yes	missense,intron	C17orf77,CD300LD	NM_001115152.1,NM_152460.2	21,	672,1962,2516	TT,TC,CC		21.3428,43.3355,32.0971	benign,	89/195,	72584764	3306,6994	1568	3582	5150	SO:0001583	missense	100131439	exon2			TGAACACGTGGTT		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"Immunoglobulin superfamily / V-set domain containing"	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.265G>A	17.37:g.72584764C>T	ENSP00000364501:p.Val89Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	227	111	0.488987	NM_001115152		Missense_Mutation	SNP	ENST00000375352.1	37	CCDS42379.1	695	0.3182234432234432	332	0.6747967479674797	87	0.24033149171270718	133	0.23251748251748253	143	0.18865435356200527	T	9.306	1.054409	0.19907	0.566645	0.213428	ENSG00000204345	ENST00000375352	T	0.65364	-0.15	4.67	-0.509	0.11977	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.005160	0.03034	N	0.152512	T	0.00012	0.0000	L	0.58810	1.83	0.80722	P	0.0	B	0.23316	0.083	B	0.23419	0.046	T	0.47983	-0.9074	9	0.37606	T	0.19	.	4.8858	0.13703	0.142:0.326:0.0:0.532	rs783239;rs58833921;rs783239	89	Q6UXZ3	CLM4_HUMAN	M	89	ENSP00000364501:V89M	ENSP00000364501:V89M	V	-	1	0	CD300LD	70096359	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-0.727000	0.04888	-0.361000	0.07541	GTG	C|0.680;T|0.320	0.320	strong		0.423	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		T	72584764	C	T	72584764	3	4	22	1	0	0	0	0	1	0	0	0	3000	536	19	1	331	1	CD300LD	17	72584764	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	233740	72584764	8610446	9010	14118										
C17orf77	146723	hgsc.bcm.edu	37	chr17	72588326	72588326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgagaagcagcagagAtggggacagccacatggtcc	16	8	0	2	rs493430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72588326A>C	ENST00000392620.1	+	3	503	c.141A>C	c.(139-141)agA>agC	p.R47S	C17orf77_ENST00000328023.2_Missense_Mutation_p.R47S|CD300LD_ENST00000375352.1_Missense_Mutation_p.S6A	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	47			R -> S (in dbSNP:rs493430). {ECO:0000269|PubMed:14702039}.			extracellular region (GO:0005576)		p.S6A(1)|p.R47S(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGCAGCAGAGATGGGGACAGC	0.562													C|||	3377	0.674321	0.8298	0.5533	5008	,	,		19392	0.5714		0.675	False		,,,				2504	0.6554				p.R47S		Atlas-SNP	.											CD300LD,NS,carcinoma,0,2	C17orf77	31	2	2	Substitution - Missense(2)	prostate(2)	c.A141C						PASS	.	C	ALA/SER,SER/ARG	3570,836	329.9+/-301.2	1457,656,90	80	81	81		16,141	2.1	0	17	dbSNP_83	81	5730,2870	452.1+/-362.9	1920,1890,490	yes	missense,missense	C17orf77,CD300LD	NM_001115152.1,NM_152460.2	99,110	3377,2546,580	CC,CA,AA		33.3721,18.9741,28.4945	benign,benign	6/195,47/244	72588326	9300,3706	2203	4300	6503	SO:0001583	missense	146723	exon3			GCAGAGATGGGGA		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.141A>C	17.37:g.72588326A>C	ENSP00000376396:p.Arg47Ser	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	130	129	0.992308	NM_152460		Missense_Mutation	SNP	ENST00000392620.1	37	CCDS32721.1	1451|1451	0.6643772893772893|0.6643772893772893	410|410	0.8333333333333334|0.8333333333333334	203|203	0.5607734806629834|0.5607734806629834	312|312	0.5454545454545454|0.5454545454545454	526|526	0.6939313984168866|0.6939313984168866	C|C	9.137|9.137	1.012840|1.012840	0.19277|0.19277	0.810259|0.810259	0.666279|0.666279	ENSG00000182352|ENSG00000204345	ENST00000392620;ENST00000328023|ENST00000375352	T;T|T	0.55413|0.03496	0.52;0.52|3.91	4.18|4.18	2.12|2.12	0.27331|0.27331	.|.	.|1.782210	.|0.03819	.|N	.|0.267140	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.26395|0.26395	-1.0104|-1.0104	6|8	.|0.02654	.|T	.|1	.|.	3.4548|3.4548	0.07511|0.07511	0.1736:0.5607:0.1681:0.0976|0.1736:0.5607:0.1681:0.0976	rs493430;rs61489654;rs493430|rs493430;rs61489654;rs493430	47|6	Q96MU5|Q6UXZ3	CQ077_HUMAN|CLM4_HUMAN	S|A	47|6	ENSP00000376396:R47S;ENSP00000329353:R47S|ENSP00000364501:S6A	.|ENSP00000364501:S6A	R|S	+|-	3|1	2|0	C17orf77|CD300LD	70099921|70099921	0.000000|0.000000	0.05858|0.05858	0.025000|0.025000	0.17156|0.17156	0.002000|0.002000	0.02628|0.02628	-0.793000|-0.793000	0.04589|0.04589	0.142000|0.142000	0.18901|0.18901	-0.167000|-0.167000	0.13348|0.13348	AGA|TCT	A|0.306;C|0.694	0.694	strong		0.562	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		C	72588326	A	C	72588326	3	2	22	1	0	0	0	0	1	0	0	0	1882	333	12	5	143	5	C17orf77	17	72588326	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3562	72588326	8606884	9011	14119										
C17orf77	146723	hgsc.bcm.edu	37	chr17	72588806	72588806	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgctggagaaagcccatgCcccaggcttcttccaggcag	11	14	1	1	rs545652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72588806C>A	ENST00000392620.1	+	3	983	c.621C>A	c.(619-621)tgC>tgA	p.C207*	CD300LD_ENST00000375352.1_5'Flank|C17orf77_ENST00000328023.2_Nonsense_Mutation_p.C207*	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	207						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AAAGCCCATGCCCCAGGCTTC	0.607													C|||	1120	0.223642	0.5189	0.1441	5008	,	,		19490	0.0476		0.1392	False		,,,				2504	0.1493				p.C207X		Atlas-SNP	.											C17orf77,colon,carcinoma,0,1	C17orf77	31	1	0			c.C621A						PASS	.	C	stop/CYS	1969,2437	555.4+/-379.2	435,1099,669	79	80	79		621	2.4	0	17	dbSNP_83	79	1485,7115	280.5+/-294.5	138,1209,2953	yes	stop-gained	C17orf77	NM_152460.2		573,2308,3622	AA,AC,CC		17.2674,44.6891,26.557		207/244	72588806	3454,9552	2203	4300	6503	SO:0001587	stop_gained	146723	exon3			CCCATGCCCCAGG		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.621C>A	17.37:g.72588806C>A	ENSP00000376396:p.Cys207*	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	142	72	0.507042	NM_152460		Nonsense_Mutation	SNP	ENST00000392620.1	37	CCDS32721.1	453	0.20741758241758243	256	0.5203252032520326	67	0.1850828729281768	22	0.038461538461538464	108	0.1424802110817942	C	22.9	4.351629	0.82132	0.446891	0.172674	ENSG00000182352	ENST00000392620;ENST00000328023	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.37000	P	0.10478399999999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3461	0.32275	0.0:1.0:0.0:0.0	rs545652;rs545652	.	.	.	X	207	.	.	C	+	3	2	C17orf77	70100401	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-0.036000	0.12185	1.642000	0.50584	0.511000	0.50034	TGC	C|0.751;A|0.249	0.249	strong		0.607	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		A	72588806	C	A	72588806	4	1	22	1	0	0	0	0	0	1	0	0	1882	747	26	4	623	4	C17orf77	17	72588806	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	480	72588806	8606404	9012	14120										
CD300E	342510	hgsc.bcm.edu	37	chr17	72608834	72608834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggcctgttcacccagaaGacagcacccagcatgctcag	10	14	2	3	rs579238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72608834G>A	ENST00000328630.3	-	4	616	c.576C>T	c.(574-576)gtC>gtT	p.V192V	CD300E_ENST00000426295.2_Silent_p.V233V|CD300E_ENST00000392619.1_Silent_p.V219V			Q496F6	CLM2_HUMAN	CD300e molecule	192					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCACCCAGAAGACAGCACCCA	0.627													G|||	1319	0.263379	0.3525	0.2133	5008	,	,		16911	0.1042		0.3022	False		,,,				2504	0.3027				p.V192V		Atlas-SNP	.											.	CD300E	70	.	0			c.C576T						PASS	.	G		1474,2932	474.8+/-357.1	246,982,975	76	74	75		576	4	1	17	dbSNP_83	75	2492,6108	408.9+/-349.7	372,1748,2180	no	coding-synonymous	CD300E	NM_181449.2		618,2730,3155	AA,AG,GG		28.9767,33.4544,30.4936		192/206	72608834	3966,9040	2203	4300	6503	SO:0001819	synonymous_variant	342510	exon4			CCAGAAGACAGCA	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.576C>T	17.37:g.72608834G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_181449	B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	CCDS11702.1																																																																																			G|0.713;A|0.287	0.287	strong		0.627	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		A	72608834	G	A	72608834	2	1	22	1	0	0	0	0	0	0	0	1	2998	929	33	2		2	CD300E	17	72608834	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20028	72608834	8586376	9013	14121										
CD300E	342510	hgsc.bcm.edu	37	chr17	72613589	72613589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcacagagccggggcccTtcagagacaaacagcctgga	12	13	2	2	rs581157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72613589T>G	ENST00000328630.3	-	2	96	c.56A>C	c.(55-57)aAg>aCg	p.K19T	CD300E_ENST00000392619.1_Missense_Mutation_p.K46T|CD300E_ENST00000426295.2_Missense_Mutation_p.K60T			Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.		K -> T (in dbSNP:rs581157). {ECO:0000269|PubMed:15557162}.		innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCGGGGCCCTTCAGAGACAA	0.552													G|||	2172	0.433706	0.618	0.3501	5008	,	,		18373	0.3532		0.4294	False		,,,				2504	0.3313				p.K19T		Atlas-SNP	.											.	CD300E	70	.	0			c.A56C						PASS	.	G	THR/LYS	2563,1843	529.0+/-372.6	744,1075,384	41	37	38		56	-3.7	0	17	dbSNP_83	38	3781,4819	612.2+/-395.9	842,2097,1361	yes	missense	CD300E	NM_181449.2	78	1586,3172,1745	GG,GT,TT		43.9651,41.8293,48.7775	benign	19/206	72613589	6344,6662	2203	4300	6503	SO:0001583	missense	342510	exon2			GGGCCCTTCAGAG	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.56A>C	17.37:g.72613589T>G	ENSP00000329942:p.Lys19Thr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_181449	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	969	0.44368131868131866	315	0.6402439024390244	126	0.34806629834254144	198	0.34615384615384615	330	0.43535620052770446	G	3.490	-0.104128	0.06967	0.581707	0.439651	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.62	-3.69	0.04450	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315838	0.22719	N	0.056466	T	0.00012	0.0000	N	0.00633	-1.31	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	9	0.22109	T	0.4	-6.1244	4.5509	0.12112	0.1653:0.5134:0.2025:0.1188	rs581157;rs17470415;rs52818557;rs59897598;rs581157	19	Q496F6	CLM2_HUMAN	T	46;60;19;21	ENSP00000376395:K46T;ENSP00000416642:K60T;ENSP00000329942:K19T;ENSP00000415488:K21T	ENSP00000329942:K19T	K	-	2	0	CD300E	70125184	0.000000	0.05858	0.002000	0.10522	0.157000	0.22087	-3.607000	0.00416	-0.592000	0.05851	-1.623000	0.00790	AAG	T|0.531;G|0.469	0.469	strong		0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		G	72613589	T	G	72613589	3	3	22	1	0	0	0	0	1	0	0	0	2998	1609	56	5	573	5	CD300E	17	72613589	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4755	72613589	8581621	9014	14122										
TMEM104	54868	hgsc.bcm.edu	37	chr17	72784931	72784931	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactcggccccctcagcttCgtgaccaccacctttgtgat	8	17	1	2	rs62638676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72784931C>T	ENST00000335464.5	+	4	333	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TMEM104_ENST00000582773.1_Silent_p.F57F|TMEM104_ENST00000417024.2_Silent_p.F70F|TMEM104_ENST00000582330.1_Silent_p.F57F	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	57						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CCCTCAGCTTCGTGACCACCA	0.587													c|||	157	0.0313498	0.115	0.0072	5008	,	,		18997	0.0		0.0	False		,,,				2504	0.0				p.F57F		Atlas-SNP	.											.	TMEM104	49	.	0			c.C171T						PASS	.	T		423,3983	206.2+/-227.9	22,379,1802	69	59	62		171	-9.1	0.2	17	dbSNP_129	62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM104	NM_017728.3		22,382,6099	TT,TC,CC		0.0349,9.6005,3.2754		57/497	72784931	426,12580	2203	4300	6503	SO:0001819	synonymous_variant	54868	exon4			CAGCTTCGTGACC	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.171C>T	17.37:g.72784931C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	41	15	0.365854	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	CCDS32723.1																																																																																			C|0.968;T|0.032	0.032	strong		0.587	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		T	72784931	C	T	72784931	2	4	22	1	0	0	0	0	0	0	0	1	16015	883	31	1		1	TMEM104	17	72784931	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	171342	72784931	8410279	9015	14123										
OTOP2	92736	hgsc.bcm.edu	37	chr17	72926879	72926879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtcagtacgccatctcTtactactccatcgtggctgt	9	13	2	0	rs16967162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:72926879T>C	ENST00000580223.1	+	5	1179	c.1149T>C	c.(1147-1149)tcT>tcC	p.S383S	OTOP2_ENST00000331427.4_Silent_p.S383S			Q7RTS6	OTOP2_HUMAN	otopetrin 2	383						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ACGCCATCTCTTACTACTCCA	0.637													C|||	334	0.0666933	0.2428	0.0187	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.0				p.S383S		Atlas-SNP	.											.	OTOP2	81	.	0			c.T1149C						PASS	.	C		1004,3402	729.1+/-410.0	132,740,1331	72	63	66		1149	4.3	1	17	dbSNP_123	66	16,8584	818.5+/-406.9	0,16,4284	no	coding-synonymous	OTOP2	NM_178160.2		132,756,5615	CC,CT,TT		0.186,22.7871,7.8425		383/563	72926879	1020,11986	2203	4300	6503	SO:0001819	synonymous_variant	92736	exon6			CATCTCTTACTAC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1149T>C	17.37:g.72926879T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	175	84	0.48	NM_178160		Silent	SNP	ENST00000580223.1	37	CCDS11708.1																																																																																			T|0.925;C|0.075	0.075	strong		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		C	72926879	T	C	72926879	2	2	22	1	0	0	0	0	0	0	0	1	11306	1596	56	3		3	OTOP2	17	72926879	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	141948	72926879	8268331	9016	14124										
ICT1	3396	hgsc.bcm.edu	37	chr17	73008804	73008804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggccaccaggtgcctgcGctggggcctgagccgagccg	18	15	0	1	rs3744206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73008804G>T	ENST00000301585.5	+	1	36	c.23G>T	c.(22-24)cGc>cTc	p.R8L		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	8			R -> P (in dbSNP:rs3744206).		mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGGTGCCTGCGCTGGGGCCTG	0.697											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	118	0.0235623	0.0703	0.0101	5008	,	,		10726	0.0		0.0179	False		,,,				2504	0.0				p.R8L		Atlas-SNP	.											ICT1,NS,carcinoma,0,1	ICT1	17	1	0			c.G23T						PASS	.	G	LEU/ARG	223,4091		3,217,1937	10	9	9		23	2.2	0.8	17	dbSNP_107	9	274,8156		5,264,3946	no	missense	ICT1	NM_001545.1	102	8,481,5883	TT,TG,GG		3.2503,5.1692,3.8999	benign	8/207	73008804	497,12247	2157	4215	6372	SO:0001583	missense	3396	exon1			GCCTGCGCTGGGG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.23G>T	17.37:g.73008804G>T	ENSP00000301585:p.Arg8Leu	Somatic	9	0	0	1142	WXS	Illumina HiSeq	Phase_I	17	14	0.823529	NM_001545	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090738	0.20471	0.051692	0.032503	ENSG00000167862	ENST00000301585	T	0.25749	1.78	5.58	2.2	0.27929	.	0.565130	0.17342	N	0.177719	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	10	0.44086	T	0.13	-4.1944	7.6743	0.28476	0.0:0.1266:0.4103:0.4631	rs3744206	8	Q14197	ICT1_HUMAN	L	8	ENSP00000301585:R8L	ENSP00000301585:R8L	R	+	2	0	ICT1	70520399	0.005000	0.15991	0.830000	0.32933	0.026000	0.11368	0.131000	0.15870	0.674000	0.31244	0.655000	0.94253	CGC	C|0.010;G|0.987;T|0.003	0.003	strong		0.697	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		T	73008804	G	T	73008804	3	4	22	1	0	0	0	0	1	0	0	0	7488	1087	38	4	25	4	ICT1	17	73008804	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81925	73008804	8186406	9017	14125										
SLC16A5	9121	hgsc.bcm.edu	37	chr17	73096199	73096199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgcgctggcctcgatgggCgtctccctgggcatcaccct	12	16	2	0	rs142993518	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73096199C>T	ENST00000450736.2	+	4	856	c.441C>T	c.(439-441)ggC>ggT	p.G147G	SLC16A5_ENST00000580123.1_Silent_p.G147G|SLC16A5_ENST00000538213.2_Silent_p.G187G|SLC16A5_ENST00000329783.4_Silent_p.G147G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	147					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCTCGATGGGCGTCTCCCTGG	0.642													C|||	6	0.00119808	0.0045	0.0	5008	,	,		16275	0.0		0.0	False		,,,				2504	0.0				p.G147G		Atlas-SNP	.											.	SLC16A5	80	.	0			c.C441T						PASS	.	C		24,4382	30.8+/-60.4	0,24,2179	41	39	40		441	-7.9	0	17	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	SLC16A5	NM_004695.2		0,24,6479	TT,TC,CC		0.0,0.5447,0.1845		147/506	73096199	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	9121	exon5			GATGGGCGTCTCC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.441C>T	17.37:g.73096199C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	123	52	0.422764	NM_001271765	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																			C|0.998;T|0.002	0.002	strong		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		T	73096199	C	T	73096199	2	4	22	1	0	0	0	0	0	0	0	1	14411	755	27	1		1	SLC16A5	17	73096199	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87395	73096199	8099011	9018	14126										
NUP85	79902	hgsc.bcm.edu	37	chr17	73230796	73230796	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgacgcagcttctctcctTctgtccttgatgacgtctcg	9	15	3	2	rs35857535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73230796T>C	ENST00000245544.4	+	17	1751	c.1680T>C	c.(1678-1680)ctT>ctC	p.L560L	NUP85_ENST00000579298.1_Silent_p.L515L|NUP85_ENST00000447371.2_Silent_p.L392L|NUP85_ENST00000541827.1_Silent_p.L514L|NUP85_ENST00000579324.1_Silent_p.L448L|NUP85_ENST00000540768.1_Silent_p.L163L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	560					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTTCTCTCCTTCTGTCCTTGA	0.522													T|||	530	0.105831	0.2209	0.0692	5008	,	,		20568	0.1002		0.002	False		,,,				2504	0.089				p.L560L		Atlas-SNP	.											.	NUP85	44	.	0			c.T1680C						PASS	.	T		747,3659	306.9+/-289.7	73,601,1529	223	189	200		1680	-4.2	0.5	17	dbSNP_126	200	20,8580	13.3+/-46.6	0,20,4280	no	coding-synonymous	NUP85	NM_024844.3		73,621,5809	CC,CT,TT		0.2326,16.9542,5.8973		560/657	73230796	767,12239	2203	4300	6503	SO:0001819	synonymous_variant	79902	exon17			TCTCCTTCTGTCC	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1680T>C	17.37:g.73230796T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	83	29	0.349398	NM_024844	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	CCDS32730.1																																																																																			T|0.935;C|0.065	0.065	strong		0.522	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		C	73230796	T	C	73230796	2	2	22	1	0	0	0	0	0	0	0	1	10770	1770	62	2		2	NUP85	17	73230796	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	134597	73230796	7964414	9019	14127										
GGA3	23163	hgsc.bcm.edu	37	chr17	73236124	73236124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggctggagcagaggagcAtcggaggcgccacaggcagc	19	10	0	1	rs28641831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73236124A>G	ENST00000245541.6	-	13	1545	c.1329T>C	c.(1327-1329)gaT>gaC	p.D443D	GGA3_ENST00000578348.1_Silent_p.D321D|GGA3_ENST00000582486.1_Silent_p.D371D|GGA3_ENST00000351904.7_Silent_p.D410D|GGA3_ENST00000582717.1_Silent_p.D371D|GGA3_ENST00000538886.1_Silent_p.D321D	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	443	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCAGAGGAGCATCGGAGGCGC	0.662													G|||	905	0.180711	0.4894	0.0922	5008	,	,		13055	0.1002		0.003	False		,,,				2504	0.092				p.D443D		Atlas-SNP	.											.	GGA3	54	.	0			c.T1329C						PASS	.	G	,,,	1529,2757		270,989,884	14	16	16		1113,963,1230,1329	-9.3	0	17	dbSNP_125	16	30,8378		0,30,4174	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GGA3	NM_001172703.1,NM_001172704.1,NM_014001.3,NM_138619.2	,,,	270,1019,5058	GG,GA,AA		0.3568,35.6743,12.2814	,,,	371/652,321/593,410/691,443/724	73236124	1559,11135	2143	4204	6347	SO:0001819	synonymous_variant	23163	exon13			AGGAGCATCGGAG	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1329T>C	17.37:g.73236124A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_138619	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	CCDS11717.1																																																																																			A|0.857;G|0.143	0.143	strong		0.662	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		G	73236124	A	G	73236124	2	3	22	1	0	0	0	0	0	0	0	1	6354	214	8	2		2	GGA3	17	73236124	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5328	73236124	7959086	9020	14128										
KIAA0195	9772	hgsc.bcm.edu	37	chr17	73488794	73488794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgaccacctgtgcaacatCgccctgcaagagagccacag	9	16	0	1	rs4078259	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73488794C>T	ENST00000314256.7	+	15	2230	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	KIAA0195_ENST00000375248.5_Silent_p.I622I|KIAA0195_ENST00000579208.1_Silent_p.I263I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	612						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTGCAACATCGCCCTGCAAG	0.642													C|||	3184	0.635783	0.5257	0.5706	5008	,	,		18745	0.4673		0.8151	False		,,,				2504	0.82				p.I612I		Atlas-SNP	.											.	KIAA0195	102	.	0			c.C1836T						PASS	.	C		2485,1921	625.5+/-394.5	696,1093,414	103	99	100		1836	1.4	1	17	dbSNP_108	100	7261,1339	756.7+/-407.5	3068,1125,107	no	coding-synonymous	KIAA0195	NM_014738.4		3764,2218,521	TT,TC,CC		15.5698,43.5996,25.0654		612/1357	73488794	9746,3260	2203	4300	6503	SO:0001819	synonymous_variant	9772	exon15			CAACATCGCCCTG		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1836C>T	17.37:g.73488794C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_014738	O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	CCDS32732.1																																																																																			C|0.295;T|0.705	0.705	strong		0.642	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		T	73488794	C	T	73488794	2	4	22	1	0	0	0	0	0	0	0	1	8160	874	31	1		1	KIAA0195	17	73488794	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	252670	73488794	7706416	9021	14129										
CASKIN2	57513	hgsc.bcm.edu	37	chr17	73498483	73498483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccttgggccctgggctcTcatctagtggaggtggctcc	13	13	2	0	rs7503373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73498483T>C	ENST00000321617.3	-	18	3258	c.2672A>G	c.(2671-2673)gAg>gGg	p.E891G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E809G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	891	Pro-rich.		E -> G (in dbSNP:rs7503373). {ECO:0000269|PubMed:10574461, ECO:0000269|PubMed:12040031, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18669648}.			cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTGGGCTCTCATCTAGTGG	0.736													C|||	3994	0.797524	0.9894	0.6556	5008	,	,		8267	0.5159		0.8996	False		,,,				2504	0.8241				p.E891G		Atlas-SNP	.											.	CASKIN2	66	.	0			c.A2672G						PASS	.	C	GLY/GLU,GLY/GLU	3686,98		1798,90,4	4	5	4		2426,2672	0.6	0	17	dbSNP_116	4	7033,535		3265,503,16	yes	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	98,98	5063,593,20	CC,CT,TT		7.0692,2.5899,5.5761	benign,benign	809/1121,891/1203	73498483	10719,633	1892	3784	5676	SO:0001583	missense	57513	exon18			GGGCTCTCATCTA	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2672A>G	17.37:g.73498483T>C	ENSP00000325355:p.Glu891Gly	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	29	28	0.965517	NM_020753	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	CCDS11723.1	1693	0.7751831501831502	484	0.983739837398374	264	0.7292817679558011	266	0.46503496503496505	679	0.895778364116095	C	1.131	-0.652527	0.03480	0.974101	0.929308	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.56103	0.48;0.48	4.87	0.576	0.17380	.	0.150547	0.30890	N	0.008672	T	0.00012	0.0000	N	0.00926	-1.1	0.44207	P	0.0029679999999999707	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.15499	T	0.54	.	2.1311	0.03750	0.1241:0.3434:0.1218:0.4107	rs7503373	891	Q8WXE0	CSKI2_HUMAN	G	891;809	ENSP00000325355:E891G;ENSP00000406963:E809G	ENSP00000325355:E891G	E	-	2	0	CASKIN2	71010078	0.000000	0.05858	0.001000	0.08648	0.206000	0.24218	-0.889000	0.04144	-0.210000	0.10140	-0.320000	0.08662	GAG	T|0.224;C|0.776	0.776	strong		0.736	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		C	73498483	T	C	73498483	3	2	22	1	0	0	0	0	1	0	0	0	2667	1551	54	3	948	3	CASKIN2	17	73498483	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9689	73498483	7696727	9022	14130										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73559453	73559453	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcgggacggccgcctgctCgtcagctgtcactctgacgg	14	15	3	1	rs139362844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73559453C>T	ENST00000392550.3	+	8	852	c.735C>T	c.(733-735)ctC>ctT	p.L245L	LLGL2_ENST00000375227.4_Silent_p.L245L|LLGL2_ENST00000578363.1_Silent_p.L245L|LLGL2_ENST00000577200.1_Silent_p.L245L|LLGL2_ENST00000167462.5_Silent_p.L245L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	245					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCCGCCTGCTCGTCAGCTGTC	0.647													C|||	16	0.00319489	0.0121	0.0	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0				p.L245L		Atlas-SNP	.											.	LLGL2	155	.	0			c.C735T						PASS	.	C	,,	27,4375	30.8+/-60.4	1,25,2175	34	33	33		735,735,735	-7.7	0.6	17	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	,,	1,25,6475	TT,TC,CC		0.0,0.6134,0.2077	,,	245/357,245/1021,245/1016	73559453	27,12975	2201	4300	6501	SO:0001819	synonymous_variant	3993	exon8			CCTGCTCGTCAGC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.735C>T	17.37:g.73559453C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_001015002	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			C|0.996;T|0.004	0.004	strong		0.647	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73559453	C	T	73559453	2	4	22	1	0	0	0	0	0	0	0	1	8834	871	31	1		1	LLGL2	17	73559453	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60970	73559453	7635757	9023	14131										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73566094	73566094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggagcaggctgtggagcaGgtggaggccgacctgctgca	19	10	0	0	rs115026154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73566094G>C	ENST00000392550.3	+	15	1749	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	LLGL2_ENST00000577200.1_Missense_Mutation_p.Q544H|LLGL2_ENST00000167462.5_Missense_Mutation_p.Q544H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	544					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTGTGGAGCAGGTGGAGGCCG	0.672													G|||	70	0.0139776	0.0514	0.0029	5008	,	,		15575	0.0		0.0	False		,,,				2504	0.0				p.Q544H		Atlas-SNP	.											.	LLGL2	155	.	0			c.G1632C						PASS	.	G	HIS/GLN,HIS/GLN	256,4148	140.0+/-175.5	7,242,1953	34	33	34		1632,1632	0.4	1	17	dbSNP_132	34	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	24,24	7,243,6252	CC,CG,GG		0.0116,5.8129,1.9763	benign,benign	544/1021,544/1016	73566094	257,12747	2202	4300	6502	SO:0001583	missense	3993	exon15			GGAGCAGGTGGAG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1632G>C	17.37:g.73566094G>C	ENSP00000376333:p.Gln544His	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	100	62	0.62	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	G	10.86	1.471205	0.26423	0.058129	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.44083	0.93;0.93	5.2	0.448	0.16614	WD40/YVTN repeat-like-containing domain (1);	0.309685	0.35013	N	0.003504	T	0.01254	0.0041	N	0.16478	0.41	0.27032	N	0.964225	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.002;0.004;0.003;0.001	T	0.05484	-1.0882	10	0.17832	T	0.49	-0.9242	1.9897	0.03444	0.1345:0.225:0.353:0.2875	.	171;533;533;544;544	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	544;544;533	ENSP00000167462:Q544H;ENSP00000376333:Q544H	ENSP00000167462:Q544H	Q	+	3	2	LLGL2	71077689	0.829000	0.29322	1.000000	0.80357	0.904000	0.53231	0.044000	0.13992	0.541000	0.28827	0.549000	0.68633	CAG	G|0.977;C|0.023	0.023	strong		0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		C	73566094	G	C	73566094	3	2	22	1	0	0	0	0	1	0	0	0	8834	991	35	4	1721	4	LLGL2	17	73566094	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6641	73566094	7629116	9024	14132										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73566469	73566469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagctggccttggagggcCcactctcccgcgtcaagtcc	11	17	2	0	rs150412778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73566469C>T	ENST00000392550.3	+	16	2032	c.1915C>T	c.(1915-1917)Cca>Tca	p.P639S	LLGL2_ENST00000577200.1_Missense_Mutation_p.P639S|LLGL2_ENST00000167462.5_Missense_Mutation_p.P639S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	639					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTGGAGGGCCCACTCTCCCG	0.682													C|||	35	0.00698882	0.0265	0.0	5008	,	,		16144	0.0		0.0	False		,,,				2504	0.0				p.P639S		Atlas-SNP	.											.	LLGL2	155	.	0			c.C1915T						PASS	.	C	SER/PRO,SER/PRO	109,4289	78.3+/-116.7	1,107,2091	34	29	31		1915,1915	4.9	1	17	dbSNP_134	31	1,8591		0,1,4295	yes	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	74,74	1,108,6386	TT,TC,CC		0.0116,2.4784,0.8468	probably-damaging,probably-damaging	639/1021,639/1016	73566469	110,12880	2199	4296	6495	SO:0001583	missense	3993	exon16			GAGGGCCCACTCT	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1915C>T	17.37:g.73566469C>T	ENSP00000376333:p.Pro639Ser	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	104	58	0.557692	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	C	15.72	2.916820	0.52546	0.024784	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.56611	0.45;0.45	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.77103	2.36	0.80722	D	1	P;D;D;D;P	0.89917	0.729;1.0;1.0;0.959;0.931	P;D;D;P;P	0.91635	0.544;0.997;0.999;0.835;0.688	T	0.70296	-0.4911	10	0.56958	D	0.05	4.4938	18.2389	0.89960	0.0:1.0:0.0:0.0	.	266;628;628;639;639	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	S	639;639;628	ENSP00000167462:P639S;ENSP00000376333:P639S	ENSP00000167462:P639S	P	+	1	0	LLGL2	71078064	1.000000	0.71417	0.996000	0.52242	0.660000	0.38997	7.766000	0.85320	2.314000	0.78098	0.549000	0.68633	CCA	C|0.989;T|0.011	0.011	strong		0.682	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73566469	C	T	73566469	3	4	22	1	0	0	0	0	1	0	0	0	8834	623	22	2	2008	2	LLGL2	17	73566469	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	375	73566469	7628741	9025	14133										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73567846	73567846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagcggagaatggatgagCctgtgcgggcagagcagggt	19	8	0	3	rs1661715	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73567846C>T	ENST00000392550.3	+	18	2392	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S	LLGL2_ENST00000577200.1_Missense_Mutation_p.P759S|LLGL2_ENST00000167462.5_Missense_Mutation_p.P759S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	759			P -> S (in dbSNP:rs1661715). {ECO:0000269|PubMed:15489334}.		cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AATGGATGAGCCTGTGCGGGC	0.697													C|||	1552	0.309904	0.5915	0.2435	5008	,	,		17459	0.1508		0.2823	False		,,,				2504	0.1687				p.P759S		Atlas-SNP	.											LLGL2_ENST00000167462,rectum,carcinoma,0,6	LLGL2	155	6	0			c.C2275T						PASS	.	C	SER/PRO,SER/PRO	2440,1962		693,1054,454	29	31	30		2275,2275	4.4	0.8	17	dbSNP_89	30	2542,6054		397,1748,2153	yes	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	74,74	1090,2802,2607	TT,TC,CC		29.5719,44.5706,38.329	benign,benign	759/1021,759/1016	73567846	4982,8016	2201	4298	6499	SO:0001583	missense	3993	exon18			GATGAGCCTGTGC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2275C>T	17.37:g.73567846C>T	ENSP00000376333:p.Pro759Ser	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	47	23	0.489362	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	711	0.32554945054945056	322	0.6544715447154471	87	0.24033149171270718	81	0.14160839160839161	221	0.29155672823219	C	12.78	2.039977	0.35989	0.554294	0.295719	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.08008	3.14;3.26	5.4	4.41	0.53225	.	0.209202	0.51477	D	0.000100	T	0.00012	0.0000	L	0.57536	1.79	0.27633	P	0.947969	B;P;B;B	0.36789	0.434;0.57;0.01;0.003	B;B;B;B	0.39904	0.166;0.313;0.015;0.004	T	0.06516	-1.0822	9	0.33141	T	0.24	-0.6264	10.9596	0.47376	0.1462:0.713:0.1408:0.0	rs1661715;rs17855941;rs60583153;rs1661715	748;748;759;759	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;L2GL2_HUMAN	S	759;759;748	ENSP00000167462:P759S;ENSP00000376333:P759S	ENSP00000167462:P759S	P	+	1	0	LLGL2	71079441	0.854000	0.29725	0.840000	0.33206	0.932000	0.56968	2.448000	0.44926	1.245000	0.43885	0.549000	0.68633	CCT	C|0.622;T|0.378	0.378	strong		0.697	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73567846	C	T	73567846	3	4	22	1	0	0	0	0	1	0	0	0	8834	739	26	2	2376	2	LLGL2	17	73567846	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1377	73567846	7627364	9026	14134										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73570718	73570718	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactggcgttcacatcgagcCgccgtggggtgcagcctcag	14	13	2	0	rs1126939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73570718C>G	ENST00000392550.3	+	25	3141	c.3024C>G	c.(3022-3024)gcC>gcG	p.A1008A	LLGL2_ENST00000577200.1_Silent_p.A1008A|LLGL2_ENST00000167462.5_Missense_Mutation_p.P994R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	1008					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACATCGAGCCGCCGTGGGGT	0.677													G|||	1579	0.315296	0.6112	0.245	5008	,	,		13176	0.1508		0.2823	False		,,,				2504	0.1687				p.P994R		Atlas-SNP	.											.	LLGL2	155	.	0			c.C2981G						PASS	.	G	,ARG/PRO	2545,1861		755,1035,413	23	27	26		3024,2981	0	0	17	dbSNP_86	26	2533,6067		399,1735,2166	yes	coding-synonymous,missense	LLGL2	NM_001031803.1,NM_004524.2	,103	1154,2770,2579	GG,GC,CC		29.4535,42.2379,39.0435	,	1008/1021,994/1016	73570718	5078,7928	2203	4300	6503	SO:0001819	synonymous_variant	3993	exon24			TCGAGCCGCCGTG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.3024C>G	17.37:g.73570718C>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	118	59	0.5	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	723	0.33104395604395603	334	0.6788617886178862	88	0.2430939226519337	81	0.14160839160839161	220	0.29023746701846964	G	8.672	0.903015	0.17760	0.577621	0.294535	ENSG00000073350	ENST00000167462;ENST00000545227	T	0.04917	3.53	4.66	0.0224	0.14133	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15896	-1.0421	7	0.87932	D	0	0.7107	4.422	0.11484	0.3008:0.3105:0.3886:0.0	rs1126939;rs1671017;rs3211300;rs11554115;rs17846684;rs17859783;rs61184994;rs1126939	983;994	G3V1I9;Q6P1M3-2	.;.	R	994;983	ENSP00000167462:P994R	ENSP00000167462:P994R	P	+	2	0	LLGL2	71082313	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.116000	0.10724	-0.271000	0.09272	-0.293000	0.09583	CCG	C|0.621;G|0.379	0.379	strong		0.677	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		G	73570718	C	G	73570718	2	3	22	1	0	0	0	0	0	0	0	1	8834	652	23	4		4	LLGL2	17	73570718	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2872	73570718	7624492	9027	14135										
RECQL5	9400	hgsc.bcm.edu	37	chr17	73625286	73625286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccggcccttggcaagggaGctgcccccagaggaactttt	13	14	0	1	rs820190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73625286G>A	ENST00000317905.5	-	16	2376	c.2217C>T	c.(2215-2217)agC>agT	p.S739S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.S712S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	739					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAAGGGAGCTGCCCCCAG	0.647								Other identified genes with known or suspected DNA repair function					G|||	1144	0.228435	0.2247	0.2118	5008	,	,		16511	0.1577		0.3439	False		,,,				2504	0.1994				p.S739S		Atlas-SNP	.											.	RECQL5	77	.	0			c.C2217T						PASS	.	G		843,3013		99,645,1184	31	34	33		2217	-7.5	0	17	dbSNP_86	33	2670,5558		429,1812,1873	no	coding-synonymous	RECQL5	NM_004259.6		528,2457,3057	AA,AG,GG		32.4502,21.862,29.0715		739/992	73625286	3513,8571	1928	4114	6042	SO:0001819	synonymous_variant	9400	exon16			AAGGGAGCTGCCC	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2217C>T	17.37:g.73625286G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	119	57	0.478992	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	CCDS42380.1																																																																																			G|0.746;A|0.254	0.254	strong		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		A	73625286	G	A	73625286	2	1	22	1	0	0	0	0	0	0	0	1	13203	962	34	2		2	RECQL5	17	73625286	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54568	73625286	7569924	9028	14136										
RECQL5	9400	hgsc.bcm.edu	37	chr17	73627539	73627539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccccttacctgctgaagTccccgtagcccttgcggcct	10	18	0	1	rs820196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73627539T>C	ENST00000317905.5	-	9	1598	c.1439A>G	c.(1438-1440)gAc>gGc	p.D480G	RECQL5_ENST00000443199.2_5'UTR|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.D453G	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	480			D -> G (in dbSNP:rs820196).		chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGCTGAAGTCCCCGTAGCC	0.662								Other identified genes with known or suspected DNA repair function					C|||	1331	0.265775	0.1936	0.3112	5008	,	,		17901	0.2758		0.2445	False		,,,				2504	0.3425				p.D480G		Atlas-SNP	.											.	RECQL5	77	.	0			c.A1439G						PASS	.	C	GLY/ASP	677,3399		51,575,1412	49	52	51		1439	6	1	17	dbSNP_86	51	1829,6547		220,1389,2579	yes	missense	RECQL5	NM_004259.6	94	271,1964,3991	CC,CT,TT		21.8362,16.6094,20.1253	benign	480/992	73627539	2506,9946	2038	4188	6226	SO:0001583	missense	9400	exon9			CTGAAGTCCCCGT	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1439A>G	17.37:g.73627539T>C	ENSP00000317636:p.Asp480Gly	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	557	0.25503663003663	96	0.1951219512195122	99	0.27348066298342544	176	0.3076923076923077	186	0.24538258575197888	C	16.45	3.125715	0.56721	0.166094	0.218362	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.56275	0.47	5.97	5.97	0.96955	.	0.119814	0.56097	N	0.000031	T	0.00012	0.0000	N	0.00566	-1.37	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23511	-1.0186	9	0.15952	T	0.53	-13.5569	12.407	0.55445	0.0:0.8655:0.0:0.1345	rs820196;rs1661738;rs61587854;rs820196	480;453	O94762;Q6P4G0	RECQ5_HUMAN;.	G	75;480;480	ENSP00000317636:D480G	ENSP00000317636:D480G	D	-	2	0	RECQL5	71139134	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.326000	0.43849	1.555000	0.49500	-0.119000	0.15052	GAC	T|0.746;C|0.254	0.254	strong		0.662	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		C	73627539	T	C	73627539	3	2	22	1	0	0	0	0	1	0	0	0	13203	1667	58	2	1584	2	RECQL5	17	73627539	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2253	73627539	7567671	9029	14137										
FBF1	85302	hgsc.bcm.edu	37	chr17	73913827	73913827	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcacctgctccagcagccGgctctgctcattcagccgtg	9	18	4	0	rs150139322	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73913827G>T	ENST00000586717.1	-	22	2722	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	FBF1_ENST00000319129.5_Silent_p.R816R|FBF1_ENST00000389570.4_Silent_p.R817R			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	817					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCCAGCAGCCGGCTCTGCTCA	0.697													G|||	17	0.00339457	0.0129	0.0	5008	,	,		17377	0.0		0.0	False		,,,				2504	0.0				p.R816R		Atlas-SNP	.											.	FBF1	48	.	0			c.C2446A						PASS	.	G		36,4118		0,36,2041	25	29	28		2446	3.9	1	17	dbSNP_134	28	1,8413		0,1,4206	no	coding-synonymous	FBF1	NM_001080542.1		0,37,6247	TT,TG,GG		0.0119,0.8666,0.2944		816/1134	73913827	37,12531	2077	4207	6284	SO:0001819	synonymous_variant	85302	exon22			GCAGCCGGCTCTG	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2449C>A	17.37:g.73913827G>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	185	85	0.459459	NM_001080542	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37																																																																																				G|0.997;T|0.003	0.003	strong		0.697	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		T	73913827	G	T	73913827	2	4	22	1	0	0	0	0	0	0	0	1	5695	1115	39	4		4	FBF1	17	73913827	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	286288	73913827	7281383	9030	14138										
FBF1	85302	hgsc.bcm.edu	37	chr17	73929118	73929118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaacatctgagatacacctGtggtgtctctggtatgtgaa	12	7	2	2	rs149283443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73929118G>A	ENST00000586717.1	-	4	356	c.83C>T	c.(82-84)aCa>aTa	p.T28I	FBF1_ENST00000319129.5_Missense_Mutation_p.T28I|FBF1_ENST00000389570.4_Missense_Mutation_p.T28I			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	28					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AGATACACCTGTGGTGTCTCT	0.448													G|||	17	0.00339457	0.0129	0.0	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.0				p.T28I		Atlas-SNP	.											.	FBF1	48	.	0			c.C83T						PASS	.	G	ILE/THR	33,3797		0,33,1882	71	69	70		83	0.6	0	17	dbSNP_134	70	1,8275		0,1,4137	yes	missense	FBF1	NM_001080542.1	89	0,34,6019	AA,AG,GG		0.0121,0.8616,0.2809	benign	28/1134	73929118	34,12072	1915	4138	6053	SO:0001583	missense	85302	exon4			ACACCTGTGGTGT	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.83C>T	17.37:g.73929118G>A	ENSP00000465132:p.Thr28Ile	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	55	35	0.636364	NM_001080542	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	10.15	1.271825	0.23221	0.008616	1.21E-4	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20332	2.08;2.08	3.74	0.562	0.17290	.	.	.	.	.	T	0.09512	0.0234	L	0.36672	1.1	0.09310	N	1	B;B;B	0.33583	0.418;0.418;0.418	B;B;B	0.31101	0.124;0.058;0.058	T	0.21655	-1.0239	9	0.59425	D	0.04	6.5178	3.4486	0.07490	0.2201:0.0:0.5802:0.1997	.	42;28;28	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	I	28;28;28;41	ENSP00000374221:T28I;ENSP00000324292:T28I	ENSP00000324292:T28I	T	-	2	0	FBF1	71440713	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	0.333000	0.19768	0.162000	0.19483	0.557000	0.71058	ACA	G|0.997;A|0.003	0.003	strong		0.448	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		A	73929118	G	A	73929118	3	1	22	1	0	0	0	0	1	0	0	0	5695	1377	48	2	3422	2	FBF1	17	73929118	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15291	73929118	7266092	9031	14139										
ACOX1	51	hgsc.bcm.edu	37	chr17	73944496	73944496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgagtaactcctttacacGctggtttacttgtgtaatct	8	8	1	1	rs35629489	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73944496G>A	ENST00000301608.4	-	13	1831	c.1771C>T	c.(1771-1773)Cgt>Tgt	p.R591C	ACOX1_ENST00000537812.1_Missense_Mutation_p.R553C|ACOX1_ENST00000293217.5_Missense_Mutation_p.R591C	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	591					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TCCTTTACACGCTGGTTTACT	0.388													G|||	69	0.013778	0.0461	0.0043	5008	,	,		18689	0.0		0.002	False		,,,				2504	0.0031				p.R591C		Atlas-SNP	.											ACOX1_ENST00000301608,caecum,carcinoma,0,2	ACOX1	85	2	0			c.C1771T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	111,4295	85.8+/-124.5	1,109,2093	152	132	139		1657,1771,1771	5.2	0.1	17	dbSNP_126	139	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense,missense	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	180,180,180	1,121,6381	AA,AG,GG		0.1395,2.5193,0.9457	probably-damaging,probably-damaging,probably-damaging	553/623,591/661,591/661	73944496	123,12883	2203	4300	6503	SO:0001583	missense	51	exon13			TTACACGCTGGTT	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1771C>T	17.37:g.73944496G>A	ENSP00000301608:p.Arg591Cys	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	39	12	0.307692	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	25	0.011446886446886446	23	0.046747967479674794	0	0.0	0	0.0	2	0.002638522427440633	G	15.54	2.864717	0.51482	0.025193	0.001395	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.47177	0.85;0.85;0.85	5.25	5.25	0.73442	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.099482	0.64402	D	0.000003	T	0.31575	0.0801	M	0.86178	2.8	0.38755	D	0.954204	D;D;P;B	0.76494	0.999;0.998;0.47;0.268	P;P;B;B	0.60117	0.869;0.869;0.106;0.045	T	0.65796	-0.6081	10	0.72032	D	0.01	-11.4201	19.7385	0.96217	0.0:0.0:1.0:0.0	rs35629489	523;553;591;591	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	C	591;591;553;591;523	ENSP00000301608:R591C;ENSP00000293217:R591C;ENSP00000441257:R553C	ENSP00000293217:R591C	R	-	1	0	ACOX1	71456091	1.000000	0.71417	0.099000	0.21106	0.405000	0.30901	5.538000	0.67193	2.838000	0.97847	0.655000	0.94253	CGT	G|0.989;A|0.011	0.011	strong		0.388	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			A	73944496	G	A	73944496	3	1	22	1	0	0	0	0	1	0	0	0	158	1087	38	1	219	1	ACOX1	17	73944496	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15378	73944496	7250714	9032	14140										
ACOX1	51	hgsc.bcm.edu	37	chr17	73949540	73949540	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctatccttaccctggcttGatttcagactggtgcctcac	7	15	2	2	rs1135640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:73949540G>C	ENST00000301608.4	-	7	996	c.936C>G	c.(934-936)atC>atG	p.I312M	ACOX1_ENST00000537812.1_Missense_Mutation_p.I274M|ACOX1_ENST00000591857.1_5'Flank|ACOX1_ENST00000293217.5_Missense_Mutation_p.I312M	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	312			I -> M (in dbSNP:rs1135640). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:8040306, ECO:0000269|PubMed:8117268}.		alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ACCCTGGCTTGATTTCAGACT	0.507													G|||	2758	0.550719	0.1589	0.6729	5008	,	,		19337	0.7877		0.6402	False		,,,				2504	0.6575				p.I312M		Atlas-SNP	.											.	ACOX1	85	.	0			c.C936G						PASS	.	G	MET/ILE,MET/ILE,MET/ILE	1034,3372	380.4+/-323.7	122,790,1291	106	87	94		822,936,936	5.2	1	17	dbSNP_86	94	5582,3018	663.4+/-402.1	1825,1932,543	yes	missense,missense,missense	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	10,10,10	1947,2722,1834	CC,CG,GG		35.093,23.468,49.1312	benign,benign,benign	274/623,312/661,312/661	73949540	6616,6390	2203	4300	6503	SO:0001583	missense	51	exon7			TGGCTTGATTTCA	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.936C>G	17.37:g.73949540G>C	ENSP00000301608:p.Ile312Met	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	216	101	0.467593	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	1251	0.5728021978021978	85	0.17276422764227642	229	0.6325966850828729	433	0.756993006993007	504	0.6649076517150396	G	13.17	2.156848	0.38119	0.23468	0.64907	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.70282	-0.47;-0.47;-0.47	6.17	5.2	0.72013	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.200754	0.50627	D	0.000111	T	0.00012	0.0000	L	0.28458	0.855	0.23351	P	0.99785757	B;B;B;B	0.13145	0.003;0.0;0.0;0.007	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.47086	-0.9144	9	0.35671	T	0.21	-22.5782	7.546	0.27768	0.0666:0.167:0.6551:0.1114	rs1135640;rs1137582;rs3198449;rs3201363;rs11550765;rs17420148;rs17583121;rs17850378;rs17850653;rs52804397;rs56586913;rs1137582	244;274;312;312	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	M	312;312;274;312;244	ENSP00000301608:I312M;ENSP00000293217:I312M;ENSP00000441257:I274M	ENSP00000293217:I312M	I	-	3	3	ACOX1	71461135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.086000	0.30853	2.941000	0.99782	0.655000	0.94253	ATC	G|0.477;C|0.523	0.523	strong		0.507	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			C	73949540	G	C	73949540	3	2	22	1	0	0	0	0	1	0	0	0	158	1280	45	4	1078	4	ACOX1	17	73949540	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5044	73949540	7245670	9033	14141										
EVPL	2125	hgsc.bcm.edu	37	chr17	74006079	74006079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacgaccttctccttcacGtccacctccctcttctcaag	3	20	4	0	rs79450818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74006079G>A	ENST00000301607.3	-	22	3460	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D	EVPL_ENST00000586740.1_Silent_p.D1091D	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1069	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTTCACGTCCACCTCCC	0.592													G|||	58	0.0115815	0.0431	0.0014	5008	,	,		21848	0.0		0.0	False		,,,				2504	0.0				p.D1069D		Atlas-SNP	.											.	EVPL	155	.	0			c.C3207T						PASS	.	G		141,4265	101.2+/-139.8	2,137,2064	149	140	143		3207	-3.6	0	17	dbSNP_132	143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EVPL	NM_001988.2		2,138,6363	AA,AG,GG		0.0116,3.2002,1.0918		1069/2034	74006079	142,12864	2203	4300	6503	SO:0001819	synonymous_variant	2125	exon22			CTTCACGTCCACC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3207C>T	17.37:g.74006079G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	115	70	0.608696	NM_001988	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																			G|0.987;A|0.013	0.013	strong		0.592	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74006079	G	A	74006079	2	1	22	1	0	0	0	0	0	0	0	1	5292	1136	40	1		1	EVPL	17	74006079	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56539	74006079	7189131	9034	14142										
EVPL	2125	hgsc.bcm.edu	37	chr17	74014628	74014628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccctgcacgacccaggcGtgcgggtcagtgttatctac	14	13	2	0	rs2071193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74014628G>A	ENST00000301607.3	-	12	1591	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	EVPL_ENST00000586740.1_Silent_p.H446H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	446	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGACCCAGGCGTGCGGGTCAG	0.677													G|||	2508	0.500799	0.3646	0.4885	5008	,	,		14719	0.751		0.4006	False		,,,				2504	0.5389				p.H446H		Atlas-SNP	.											.	EVPL	155	.	0			c.C1338T						PASS	.	G		1824,2582		401,1022,780	21	24	23		1338	3	1	17	dbSNP_96	23	3666,4934		767,2132,1401	no	coding-synonymous	EVPL	NM_001988.2		1168,3154,2181	AA,AG,GG		42.6279,41.3981,42.2113		446/2034	74014628	5490,7516	2203	4300	6503	SO:0001819	synonymous_variant	2125	exon12			CCAGGCGTGCGGG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1338C>T	17.37:g.74014628G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	217	95	0.437788	NM_001988	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																			T|0.000;G|0.562;C|0.000;A|0.438	0.438	strong		0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74014628	G	A	74014628	2	1	22	1	0	0	0	0	0	0	0	1	5292	1136	40	1		1	EVPL	17	74014628	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8549	74014628	7180582	9035	14143										
SRP68	6730	hgsc.bcm.edu	37	chr17	74036544	74036544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtctctgtttgatgagCgtcgtttgcatctgaaagtt	13	6	2	3	rs75353721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74036544C>T	ENST00000307877.2	-	15	1773	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	SRP68_ENST00000602720.1_Missense_Mutation_p.A199T|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.A437T|SRP68_ENST00000539137.1_Missense_Mutation_p.A500T	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	538					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GTTTGATGAGCGTCGTTTGCA	0.438													C|||	43	0.00858626	0.0295	0.0043	5008	,	,		21078	0.001		0.0	False		,,,				2504	0.0				p.A538T		Atlas-SNP	.											SRP68,colon,carcinoma,+2,1	SRP68	61	1	0			c.G1612A						scavenged	.	C	THR/ALA	73,4333	66.4+/-103.9	2,69,2132	150	125	134		1612	-4.7	0	17	dbSNP_131	134	0,8600		0,0,4300	yes	missense	SRP68	NM_014230.2	58	2,69,6432	TT,TC,CC		0.0,1.6568,0.5613	benign	538/628	74036544	73,12933	2203	4300	6503	SO:0001583	missense	6730	exon15			GATGAGCGTCGTT	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1612G>A	17.37:g.74036544C>T	ENSP00000312066:p.Ala538Thr	Somatic	225	2	0.00888889		WXS	Illumina HiSeq	Phase_I	246	127	0.51626	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	14	0.00641025641025641	12	0.024390243902439025	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	2.222	-0.378212	0.05000	0.016568	0.0	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	6.07	-4.7	0.03288	.	1.163030	0.05794	N	0.610958	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.04013	0.001;0.001	T	0.17440	-1.0369	9	0.14656	T	0.56	-0.5259	0.5188	0.00608	0.2244:0.2613:0.1636:0.3507	.	500;538	G3V1U4;Q9UHB9	.;SRP68_HUMAN	T	278;500;199;538;507;437	.	ENSP00000307756:A507T	A	-	1	0	SRP68	71548139	0.023000	0.18921	0.001000	0.08648	0.069000	0.16628	-0.142000	0.10311	-0.743000	0.04784	-0.266000	0.10368	GCT	C|0.993;T|0.007	0.007	strong		0.438	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		T	74036544	C	T	74036544	3	4	22	1	0	0	0	0	1	0	0	0	15155	768	27	1	279	1	SRP68	17	74036544	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21916	74036544	7158666	9036	14144										
SRP68	6730	hgsc.bcm.edu	37	chr17	74060168	74060168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gataacaagtgaaaccgtttTcggggttcagtgttggcttc	12	7	1	1	rs58471646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74060168T>C	ENST00000307877.2	-	4	611	c.450A>G	c.(448-450)cgA>cgG	p.R150R	SRP68_ENST00000355113.5_Silent_p.R49R|SRP68_ENST00000539137.1_Silent_p.R112R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAAACCGTTTTCGGGGTTCAG	0.502													T|||	393	0.0784744	0.2806	0.0317	5008	,	,		19465	0.0		0.0	False		,,,				2504	0.0				p.R150R		Atlas-SNP	.											SRP68,rectum,carcinoma,-1,1	SRP68	61	1	0			c.A450G						scavenged	.	T		1023,3383	380.2+/-323.6	119,785,1299	189	162	171		450	0.2	1	17	dbSNP_129	171	19,8581	11.2+/-40.8	0,19,4281	no	coding-synonymous	SRP68	NM_014230.2		119,804,5580	CC,CT,TT		0.2209,23.2183,8.0117		150/628	74060168	1042,11964	2203	4300	6503	SO:0001819	synonymous_variant	6730	exon4			CCGTTTTCGGGGT	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.450A>G	17.37:g.74060168T>C		Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	273	115	0.421245	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																			T|0.925;C|0.075	0.075	strong		0.502	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		C	74060168	T	C	74060168	2	2	22	1	0	0	0	0	0	0	0	1	15155	1770	62	2		2	SRP68	17	74060168	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23624	74060168	7135042	9037	14145										
ZACN	353174	hgsc.bcm.edu	37	chr17	74076504	74076504	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctacgctctcagcaacacGggtgctgacagggcaggggc	14	12	2	1	rs8066946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74076504G>A	ENST00000334586.5	+	5	626	c.543G>A	c.(541-543)acG>acA	p.T181T	EXOC7_ENST00000591724.1_5'Flank|ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	181					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TCAGCAACACGGGTGCTGACA	0.657													G|||	424	0.0846645	0.3033	0.0331	5008	,	,		16820	0.0		0.0	False		,,,				2504	0.0				p.T181T		Atlas-SNP	.											.	ZACN	29	.	0			c.G543A						PASS	.	G		1144,3262	398.3+/-330.8	151,842,1210	61	56	58		543	-5.2	0.9	17	dbSNP_116	58	20,8580	11.9+/-42.8	0,20,4280	yes	coding-synonymous-near-splice	ZACN	NM_180990.3		151,862,5490	AA,AG,GG		0.2326,25.9646,8.9497		181/413	74076504	1164,11842	2203	4300	6503	SO:0001630	splice_region_variant	353174	exon5			CAACACGGGTGCT	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.544+1G>A	17.37:g.74076504G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	79	45	0.56962	NM_180990	Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	CCDS11740.2																																																																																			G|0.913;A|0.087	0.087	strong		0.657	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990	Silent	A	74076504	G	A	74076504	5	1	22	1	0	0	0	0	0	0	1	0	17507	1130	39	1	561	1	ZACN	17	74076504	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16336	74076504	7118706	9038	14146										
RNF157	114804	hgsc.bcm.edu	37	chr17	74163821	74163821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaaggtgaactcaacattGtagtggactttagctttact	8	7	2	1	rs2289603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74163821G>A	ENST00000269391.6	-	4	486	c.354C>T	c.(352-354)taC>taT	p.Y118Y	RNF157_ENST00000319945.6_Silent_p.Y118Y	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	118							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTCAACATTGTAGTGGACTT	0.468													G|||	984	0.196486	0.1959	0.2334	5008	,	,		18539	0.1399		0.1819	False		,,,				2504	0.2444				p.Y118Y	GBM(186;507 2120 27388 27773 52994)	Atlas-SNP	.											.	RNF157	66	.	0			c.C354T						PASS	.	G		876,3530	341.8+/-306.9	99,678,1426	193	172	179		354	5	1	17	dbSNP_100	179	1609,6991	299.4+/-304.4	142,1325,2833	no	coding-synonymous	RNF157	NM_052916.2		241,2003,4259	AA,AG,GG		18.7093,19.882,19.1066		118/680	74163821	2485,10521	2203	4300	6503	SO:0001819	synonymous_variant	114804	exon4			AACATTGTAGTGG	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.354C>T	17.37:g.74163821G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	229	229	1	NM_052916	Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	CCDS32740.1																																																																																			G|0.818;A|0.182	0.182	strong		0.468	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74163821	G	A	74163821	2	1	22	1	0	0	0	0	0	0	0	1	13454	1372	48	2		2	RNF157	17	74163821	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87317	74163821	7031389	9039	14147										
FAM100B	283991	hgsc.bcm.edu	37	chr17	74266322	74266322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgccgcccaacttccccgaTgcgctggccatgttctccaa	8	18	1	0	rs712833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74266322T>C	ENST00000327490.6	+	3	535	c.231T>C	c.(229-231)gaT>gaC	p.D77D	UBALD2_ENST00000589240.1_Silent_p.D17D	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	77																	ACTTCCCCGATGCGCTGGCCA	0.682													C|||	623	0.124401	0.3601	0.0476	5008	,	,		9337	0.0387		0.0239	False		,,,				2504	0.0521				p.D77D		Atlas-SNP	.											.	.	.	.	0			c.T231C						PASS	.	C		1320,3082		200,920,1081	28	29	28		231	-5.1	0.2	17	dbSNP_86	28	163,8435		1,161,4137	no	coding-synonymous	FAM100B	NM_182565.3		201,1081,5218	CC,CT,TT		1.8958,29.9864,11.4077		77/165	74266322	1483,11517	2201	4299	6500	SO:0001819	synonymous_variant	283991	exon3			CCCCGATGCGCTG		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.231T>C	17.37:g.74266322T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	142	67	0.471831	NM_182565		Silent	SNP	ENST00000327490.6	37	CCDS11742.1																																																																																			T|0.888;C|0.112	0.112	strong		0.682	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		C	74266322	T	C	74266322	2	2	22	1	0	0	0	0	0	0	0	1	5379	1461	51	2		2	FAM100B	17	74266322	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	102501	74266322	6928888	9040	14148										
QRICH2	84074	hgsc.bcm.edu	37	chr17	74273299	74273299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccccggggaaggtgctgcGggcggctgcggtggtagggg	24	9	0	0	rs73350377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74273299G>A	ENST00000262765.5	-	16	4891	c.4712C>T	c.(4711-4713)cCg>cTg	p.P1571L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1571										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AAGGTGCTGCGGGCGGCTGCG	0.637													G|||	665	0.132788	0.4047	0.0447	5008	,	,		16722	0.0367		0.0229	False		,,,				2504	0.0399				p.P1571L		Atlas-SNP	.											.	QRICH2	143	.	0			c.C4712T						PASS	.	G	LEU/PRO	1502,2904	470.0+/-355.6	256,990,957	49	55	53		4712	-2.5	1	17	dbSNP_130	53	149,8451	69.7+/-132.2	0,149,4151	yes	missense	QRICH2	NM_032134.1	98	256,1139,5108	AA,AG,GG		1.7326,34.0899,12.6941	benign	1571/1664	74273299	1651,11355	2203	4300	6503	SO:0001583	missense	84074	exon16			TGCTGCGGGCGGC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4712C>T	17.37:g.74273299G>A	ENSP00000262765:p.Pro1571Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	36	0.514286	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	264	0.12087912087912088	210	0.4268292682926829	14	0.03867403314917127	23	0.04020979020979021	17	0.022427440633245383	G	6.235	0.411412	0.11812	0.340899	0.017326	ENSG00000129646	ENST00000262765	T	0.06687	3.27	5.63	-2.54	0.06307	.	.	.	.	.	T	0.00012	0.0000	N	0.00563	-1.375	0.30329	P	0.786859	B	0.11235	0.004	B	0.04013	0.001	T	0.41928	-0.9481	8	0.08599	T	0.76	-2.6518	6.1923	0.20530	0.5337:0.0:0.3521:0.1141	.	1571	Q9H0J4	QRIC2_HUMAN	L	1571	ENSP00000262765:P1571L	ENSP00000262765:P1571L	P	-	2	0	QRICH2	71784894	0.003000	0.15002	0.963000	0.40424	0.148000	0.21650	-0.053000	0.11846	-0.396000	0.07703	-0.459000	0.05422	CCG	G|0.879;A|0.121	0.121	strong		0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74273299	G	A	74273299	3	1	22	1	0	0	0	0	1	0	0	0	12880	1116	39	1	295	1	QRICH2	17	74273299	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6977	74273299	6921911	9041	14149										
QRICH2	84074	hgsc.bcm.edu	37	chr17	74287204	74287204	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatagaggctactgagctCtcccatcagatgaaatgtct	8	11	3	4	rs2279052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74287204C>G	ENST00000262765.5	-	4	3285	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1036			E -> Q (in dbSNP:rs2279052). {ECO:0000269|PubMed:14702039}.							breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTACTGAGCTCTCCCATCAGA	0.532													C|||	2082	0.415735	0.5113	0.2939	5008	,	,		19627	0.5734		0.2753	False		,,,				2504	0.3548				p.E1036Q		Atlas-SNP	.											.	QRICH2	143	.	0			c.G3106C						PASS	.	C	GLN/GLU	2167,2239	585.7+/-386.3	531,1105,567	115	112	113		3106	5.5	0.3	17	dbSNP_100	113	2475,6125	406.0+/-348.7	346,1783,2171	yes	missense	QRICH2	NM_032134.1	29	877,2888,2738	GG,GC,CC		28.7791,49.1829,35.6912	probably-damaging	1036/1664	74287204	4642,8364	2203	4300	6503	SO:0001583	missense	84074	exon4			TGAGCTCTCCCAT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3106G>C	17.37:g.74287204C>G	ENSP00000262765:p.Glu1036Gln	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	102	51	0.5	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	895	0.4097985347985348	265	0.5386178861788617	101	0.27900552486187846	333	0.5821678321678322	196	0.25857519788918204	C	11.06	1.528788	0.27387	0.491829	0.287791	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.53857	2.7;0.6	5.54	5.54	0.83059	.	.	.	.	.	T	0.00012	0.0000	N	0.20986	0.625	0.37391	P	0.08755999999999997	D;P	0.55605	0.972;0.938	D;P	0.65140	0.932;0.636	T	0.49322	-0.8952	8	0.45353	T	0.12	-19.3391	14.9968	0.71439	0.0:1.0:0.0:0.0	rs2279052;rs52800512;rs2279052	1036;1036	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Q	1036;44;1036	ENSP00000262765:E1036Q;ENSP00000394461:E44Q	ENSP00000262765:E1036Q	E	-	1	0	QRICH2	71798799	0.976000	0.34144	0.280000	0.24747	0.101000	0.19017	3.799000	0.55529	2.610000	0.88304	0.555000	0.69702	GAG	C|0.613;G|0.387	0.387	strong		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		G	74287204	C	G	74287204	3	3	22	1	0	0	0	0	1	0	0	0	12880	922	32	4	1949	4	QRICH2	17	74287204	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13905	74287204	6908006	9042	14150			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74287389	74287389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttctgggcaggaattccaTgtcggtccgaggctcgtgtt	13	11	1	0	rs2279053	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74287389T>C	ENST00000262765.5	-	4	3100	c.2921A>G	c.(2920-2922)cAt>cGt	p.H974R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	974			H -> R (in dbSNP:rs2279053).							breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGGAATTCCATGTCGGTCCGA	0.527													C|||	2350	0.469249	0.7065	0.3098	5008	,	,		19962	0.5734		0.2744	False		,,,				2504	0.3548				p.H974R		Atlas-SNP	.											.	QRICH2	143	.	0			c.A2921G						PASS	.	C	ARG/HIS	2927,1479	472.8+/-356.5	979,969,255	68	68	68		2921	-9.4	0	17	dbSNP_100	68	2483,6117	696.2+/-404.9	348,1787,2165	yes	missense	QRICH2	NM_032134.1	29	1327,2756,2420	CC,CT,TT		28.8721,33.5679,41.5962	benign	974/1664	74287389	5410,7596	2203	4300	6503	SO:0001583	missense	84074	exon4			ATTCCATGTCGGT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2921A>G	17.37:g.74287389T>C	ENSP00000262765:p.His974Arg	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	126	74	0.587302	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	984	0.45054945054945056	350	0.7113821138211383	106	0.292817679558011	333	0.5821678321678322	195	0.25725593667546176	C	2.659	-0.280104	0.05642	0.664321	0.288721	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08102	3.13	4.68	-9.36	0.00629	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31696	-0.9934	8	0.19147	T	0.46	9.8215	1.7269	0.02924	0.4102:0.2666:0.0962:0.2269	rs2279053;rs56708258;rs2279053	974;974	B5MD94;Q9H0J4	.;QRIC2_HUMAN	R	974	ENSP00000262765:H974R	ENSP00000262765:H974R	H	-	2	0	QRICH2	71798984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.988000	0.03739	-2.936000	0.00299	-3.824000	0.00019	CAT	T|0.545;C|0.455	0.455	strong		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		C	74287389	T	C	74287389	3	2	22	1	0	0	0	0	1	0	0	0	12880	1464	51	2	2134	2	QRICH2	17	74287389	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	185	74287389	6907821	9043	14151			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74287594	74287594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgctgttgatctgggtGtgtagatcccaaacctgtac	10	10	1	2	rs2279054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74287594G>A	ENST00000262765.5	-	4	2895	c.2716C>T	c.(2716-2718)Cac>Tac	p.H906Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	906			H -> Y (in dbSNP:rs2279054).							breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGATCTGGGTGTGTAGATCCC	0.512													G|||	2043	0.407947	0.4955	0.2925	5008	,	,		19958	0.5714		0.2704	False		,,,				2504	0.3446				p.H906Y		Atlas-SNP	.											QRICH2,colon,carcinoma,0,1	QRICH2	143	1	0			c.C2716T						PASS	.	G	TYR/HIS	2114,2292	578.5+/-384.7	507,1100,596	129	110	116		2716	1	0	17	dbSNP_100	116	2414,6186	398.9+/-346.3	329,1756,2215	yes	missense	QRICH2	NM_032134.1	83	836,2856,2811	AA,AG,GG		28.0698,47.98,34.8147	benign	906/1664	74287594	4528,8478	2203	4300	6503	SO:0001583	missense	84074	exon4			CTGGGTGTGTAGA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2716C>T	17.37:g.74287594G>A	ENSP00000262765:p.His906Tyr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	171	105	0.614035	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	874	0.4001831501831502	250	0.508130081300813	100	0.27624309392265195	332	0.5804195804195804	192	0.2532981530343008	G	10.16	1.273492	0.23221	0.4798	0.280698	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08458	3.09	4.65	0.958	0.19619	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P;P	0.47604	0.898;0.898	B;B	0.43867	0.434;0.434	T	0.24977	-1.0145	8	0.56958	D	0.05	1.1817	6.476	0.22037	0.1089:0.4498:0.4413:0.0	rs2279054;rs52813589;rs59976711;rs2279054	906;906	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Y	906	ENSP00000262765:H906Y	ENSP00000262765:H906Y	H	-	1	0	QRICH2	71799189	0.195000	0.23338	0.000000	0.03702	0.036000	0.12997	-0.210000	0.09345	0.475000	0.27415	0.462000	0.41574	CAC	G|0.615;A|0.385	0.385	strong		0.512	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74287594	G	A	74287594	3	1	22	1	0	0	0	0	1	0	0	0	12880	1377	48	2	2339	2	QRICH2	17	74287594	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	205	74287594	6907616	9044	14152			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74288410	74288410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaccaggttgcaccaaacCacgctgaactataccaggtt	8	13	0	1	rs80109605		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74288410C>T	ENST00000262765.5	-	4	2079	c.1900G>A	c.(1900-1902)Ggt>Agt	p.G634S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	634	Gln-rich.							p.I630_G639delIVQRGLVQPG(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						tgcaccaaaccacgctgaact	0.527																																					p.G634S		Atlas-SNP	.											.	QRICH2	143	.	3	Deletion - In frame(3)	stomach(3)	c.G1900A						PASS	.						68	85	79					17																	74288410		2201	4298	6499	SO:0001583	missense	84074	exon4			CCAAACCACGCTG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1900G>A	17.37:g.74288410C>T	ENSP00000262765:p.Gly634Ser	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	152	22	0.144737	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323061	0.24080	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.23950	1.88	5.11	1.94	0.25998	.	.	.	.	.	T	0.38878	0.1057	M	0.84082	2.675	0.80722	P	0.0	P;P	0.51537	0.946;0.897	P;P	0.50314	0.637;0.485	T	0.56007	-0.8050	8	0.44086	T	0.13	-8.3819	9.1736	0.37098	0.0:0.7577:0.0:0.2423	.	634;634	B5MD94;Q9H0J4	.;QRIC2_HUMAN	S	634	ENSP00000262765:G634S	ENSP00000262765:G634S	G	-	1	0	QRICH2	71800005	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	0.238000	0.18004	1.089000	0.41292	0.555000	0.69702	GGT	.	.	weak		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74288410	C	T	74288410	3	4	22	1	0	0	0	0	1	0	0	0	12880	594	21	2	3155	2	QRICH2	17	74288410	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	816	74288410	6906800	9045	14153			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74288421	74288421	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaccaaaccacgctgaactAtaccaggttgcaccaaacta					rs6501878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74288421A>G	ENST00000262765.5	-	4	2068	c.1889T>C	c.(1888-1890)aTa>aCa	p.I630T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	630	Gln-rich.		I -> T (in dbSNP:rs6501878).|I -> V (in dbSNP:rs6501879).					p.I630_G639delIVQRGLVQPG(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						acgctgaactataccaggttg	0.537													a|||	2303	0.459864	0.6861	0.3084	5008	,	,		23715	0.5665		0.2734	False		,,,				2504	0.3436				p.I630T		Atlas-SNP	.											.	QRICH2	143	.	3	Deletion - In frame(3)	stomach(3)	c.T1889C						PASS	.	G	THR/ILE	1346,2454		623,100,1177	73	84	81		1889	-9.4	0	17	dbSNP_116	81	535,7851		209,117,3867	no	missense	QRICH2	NM_032134.1	89	832,217,5044	GG,GA,AA		6.3797,35.4211,15.4357	benign	630/1664	74288421	1881,10305	1900	4193	6093	SO:0001583	missense	84074	exon4			TGAACTATACCAG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1889T>C	17.37:g.74288421A>G	ENSP00000262765:p.Ile630Thr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	143	45	0.314685	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	713	0.32646520146520147	254	0.516260162601626	85	0.23480662983425415	267	0.46678321678321677	107	0.14116094986807387	a	4.894	0.166137	0.09339	0.354211	0.063797	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.21361	2.01	4.72	-9.44	0.00603	.	.	.	.	.	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41466	-0.9507	8	0.11794	T	0.64	0.5378	13.5155	0.61539	0.7104:0.0815:0.2081:0.0	rs6501878;rs6501878	630;630	B5MD94;Q9H0J4	.;QRIC2_HUMAN	T	630	ENSP00000262765:I630T	ENSP00000262765:I630T	I	-	2	0	QRICH2	71800016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.857000	0.00016	-3.030000	0.00266	-2.691000	0.00139	ATA	A|0.636;G|0.364	0.364	strong		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		G	74288421	A	G	74288421	3	3	22	1	0	0	0	0	1	0	0	0	12880	449	16	2	3166	2	QRICH2	17	74288421	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	74288421	6906789	9046	14154	292	2	30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74288422	74288422	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccaaaccacgctgaactaTaccaggttgcaccaaactac					rs6501879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74288422T>C	ENST00000262765.5	-	4	2067	c.1888A>G	c.(1888-1890)Ata>Gta	p.I630V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	630	Gln-rich.		I -> T (in dbSNP:rs6501878).|I -> V (in dbSNP:rs6501879).					p.I630_G639delIVQRGLVQPG(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						cgctgaactataccaggttgc	0.542													t|||	2361	0.471446	0.7148	0.3098	5008	,	,		23437	0.5724		0.2753	False		,,,				2504	0.3548				p.I630V		Atlas-SNP	.											.	QRICH2	143	.	3	Deletion - In frame(3)	stomach(3)	c.A1888G						PASS	.	C	VAL/ILE	1348,2456		625,98,1179	73	85	81		1888	-1.3	0	17	dbSNP_116	81	531,7855		209,113,3871	yes	missense	QRICH2	NM_032134.1	29	834,211,5050	CC,CT,TT		6.332,35.4364,15.4143	benign	630/1664	74288422	1879,10311	1902	4193	6095	SO:0001583	missense	84074	exon4			GAACTATACCAGG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1888A>G	17.37:g.74288422T>C	ENSP00000262765:p.Ile630Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	146	56	0.383562	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	711	0.32554945054945056	252	0.5121951219512195	85	0.23480662983425415	267	0.46678321678321677	107	0.14116094986807387	t	4.471	0.087376	0.08583	0.354364	0.06332	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.20881	2.04	4.72	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	N	0.03154	-0.405	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45279	-0.9272	8	0.21014	T	0.42	0.5378	6.084	0.19956	0.0:0.4089:0.1892:0.4018	rs6501879	630;630	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	630	ENSP00000262765:I630V	ENSP00000262765:I630V	I	-	1	0	QRICH2	71800017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.408000	0.00067	-0.294000	0.08973	-2.756000	0.00123	ATA	T|0.675;C|0.325	0.325	strong		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		C	74288422	T	C	74288422	3	2	22	1	0	0	0	0	1	0	0	0	12880	1406	49	2	3167	2	QRICH2	17	74288422	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	74288422	6906788	9047	14155	292	2	30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74288565	74288567	+	In_Frame_Del	DEL	TGA	TGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgggaccaaaccacgcTgatgatctgcacgaggttgt					rs35035566|rs79093440|rs34007000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74288565_74288567delTGA	ENST00000262765.5	-	4	1922_1924	c.1743_1745delTCA	c.(1741-1746)catcag>cag	p.H581del		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	581	Gln-rich.							p.H581Q(5)|p.Q582R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAACCACGCTGATGATCTGCAC	0.537														2352	0.469649	0.7073	0.3098	5008	,	,		27303	0.5734		0.2753	False		,,,				2504	0.3548				p.582_582del		Pindel,Atlas-Indel	.											QRICH2,NS,carcinoma,-1,1	QRICH2	143	1	6	Substitution - Missense(6)	kidney(4)|lung(2)	c.1744_1746del						PASS	.			2830,1434		943,944,245						1.4	0		dbSNP_126	148	2377,5877		324,1729,2074	no	coding	QRICH2	NM_032134.1		1267,2673,2319	A1A1,A1R,RR		28.7982,33.6304,41.5961				5207,7311				SO:0001651	inframe_deletion	84074	exon4			.	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1743_1745delTCA	17.37:g.74288568_74288570delTGA	ENSP00000262765:p.His581del	Somatic	155	.	.		WXS	Illumina HiSeq	Phase_I	145	27	0.186	NM_032134	A2RRE1|Q96LM3	In_Frame_Del	DEL	ENST00000262765.5	37	CCDS32741.1																																																																																			TGA|0.548;-|0.452	0.452	strong		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		-	74288567	TGA	-	74288565	7	5	22	1	0	1	0	1	0	0	0	0	12880	1580	55	0	3310	0	QRICH2	17	74288565	In_Frame_Del	DEL	TGA	TCGA-G8-6324-01A-11D-2210-10	143	74288565	6906645	9048	14156			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74289242	74289242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggtagaaccaggccatgTtgatcgacgacaggcaatgt	12	8	0	2	rs3803736	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74289242T>C	ENST00000262765.5	-	4	1247	c.1068A>G	c.(1066-1068)caA>caG	p.Q356Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	356										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGCCATGTTGATCGACGA	0.493													T|||	431	0.0860623	0.2042	0.0303	5008	,	,		26753	0.0605		0.0308	False		,,,				2504	0.0491				p.Q356Q		Atlas-SNP	.											.	QRICH2	143	.	0			c.A1068G						PASS	.	T		819,3587	328.5+/-300.6	71,677,1455	174	139	151		1068	-7.8	0	17	dbSNP_107	151	219,8381	90.9+/-153.0	5,209,4086	no	coding-synonymous	QRICH2	NM_032134.1		76,886,5541	CC,CT,TT		2.5465,18.5883,7.9809		356/1664	74289242	1038,11968	2203	4300	6503	SO:0001819	synonymous_variant	84074	exon4			GCCATGTTGATCG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1068A>G	17.37:g.74289242T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	77	38	0.493506	NM_032134	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																			T|0.916;C|0.084	0.084	strong		0.493	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		C	74289242	T	C	74289242	2	2	22	1	0	0	0	0	0	0	0	1	12880	1722	60	2		2	QRICH2	17	74289242	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	677	74289242	6905968	9049	14157			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74289500	74289500	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacatacgttgctcatccacGacaaatggtatcaattcccg	6	12	2	0	rs3803737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74289500G>A	ENST00000262765.5	-	4	989	c.810C>T	c.(808-810)gtC>gtT	p.V270V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	270										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCTCATCCACGACAAATGGTA	0.517													G|||	2351	0.469449	0.7073	0.3098	5008	,	,		26072	0.5724		0.2753	False		,,,				2504	0.3548				p.V270V		Atlas-SNP	.											.	QRICH2	143	.	0			c.C810T						PASS	.	G		2925,1481	679.3+/-403.7	976,973,254	138	115	122		810	0.2	0	17	dbSNP_107	122	2483,6117	406.9+/-349.0	347,1789,2164	no	coding-synonymous	QRICH2	NM_032134.1		1323,2762,2418	AA,AG,GG		28.8721,33.6133,41.5808		270/1664	74289500	5408,7598	2203	4300	6503	SO:0001819	synonymous_variant	84074	exon4			ATCCACGACAAAT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.810C>T	17.37:g.74289500G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	125	56	0.448	NM_032134	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																			G|0.557;A|0.443	0.443	strong		0.517	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74289500	G	A	74289500	2	1	22	1	0	0	0	0	0	0	0	1	12880	1045	37	1		1	QRICH2	17	74289500	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	258	74289500	6905710	9050	14158			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74289705	74289705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgggctggtctctggccAagggtaagtcctgttgaact	13	9	1	1	rs6501880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74289705A>G	ENST00000262765.5	-	4	784	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	202			L -> S (in dbSNP:rs6501880).							breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCTCTGGCCAAGGGTAAGTC	0.522													G|||	2317	0.46266	0.6815	0.3084	5008	,	,		24481	0.5724		0.2753	False		,,,				2504	0.3558				p.L202S		Atlas-SNP	.											.	QRICH2	143	.	0			c.T605C						PASS	.	G	SER/LEU	2837,1569	489.0+/-361.4	920,997,286	132	101	111		605	-4.5	0	17	dbSNP_116	111	2486,6114	696.3+/-404.9	348,1790,2162	yes	missense	QRICH2	NM_032134.1	145	1268,2787,2448	GG,GA,AA		28.907,35.6105,40.9273	benign	202/1664	74289705	5323,7683	2203	4300	6503	SO:0001583	missense	84074	exon4			CTGGCCAAGGGTA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.605T>C	17.37:g.74289705A>G	ENSP00000262765:p.Leu202Ser	Somatic	410	0	0		WXS	Illumina HiSeq	Phase_I	425	201	0.472941	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	971	0.44459706959706957	337	0.6849593495934959	106	0.292817679558011	332	0.5804195804195804	196	0.25857519788918204	G	3.851	-0.031778	0.07543	0.643895	0.28907	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.17691	2.26	3.69	-4.53	0.03462	.	.	.	.	.	T	0.00012	0.0000	N	0.12569	0.235	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.35549	-0.9784	8	0.07813	T	0.8	.	7.1823	0.25780	0.6822:0.0:0.17:0.1478	rs6501880;rs60042941;rs6501880	202;202	B5MD94;Q9H0J4	.;QRIC2_HUMAN	S	202	ENSP00000262765:L202S	ENSP00000262765:L202S	L	-	2	0	QRICH2	71801300	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.980000	0.03770	-1.269000	0.02436	-1.945000	0.00491	TTG	A|0.564;G|0.436	0.436	strong		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		G	74289705	A	G	74289705	3	3	22	1	0	0	0	0	1	0	0	0	12880	131	5	2	4450	2	QRICH2	17	74289705	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	205	74289705	6905505	9051	14159			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74289875	74289875	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctcggctgctgctgtctCccagtaccagaggggacctt	12	15	1	1	rs6501882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74289875C>T	ENST00000262765.5	-	4	614	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	145										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCTGCTGTCTCCCAGTACCAG	0.562													C|||	2351	0.469449	0.7073	0.3098	5008	,	,		19445	0.5724		0.2753	False		,,,				2504	0.3548				p.G145G		Atlas-SNP	.											.	QRICH2	143	.	0			c.G435A						PASS	.	C		2925,1481	678.2+/-403.5	977,971,255	57	59	58		435	-5.1	0	17	dbSNP_116	58	2485,6115	405.8+/-348.6	347,1791,2162	no	coding-synonymous	QRICH2	NM_032134.1		1324,2762,2417	TT,TC,CC		28.8953,33.6133,41.5962		145/1664	74289875	5410,7596	2203	4300	6503	SO:0001819	synonymous_variant	84074	exon4			CTGTCTCCCAGTA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.435G>A	17.37:g.74289875C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	136	65	0.477941	NM_032134	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																			C|0.558;T|0.442	0.442	strong		0.562	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74289875	C	T	74289875	2	4	22	1	0	0	0	0	0	0	0	1	12880	842	30	2		2	QRICH2	17	74289875	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	170	74289875	6905335	9052	14160			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74290097	74290097	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaatcccataagtgtttcTgagccctggttggagaggaa	12	7	1	2	rs7225131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74290097T>A	ENST00000262765.5	-	4	392	c.213A>T	c.(211-213)tcA>tcT	p.S71S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	71										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAAGTGTTTCTGAGCCCTGGT	0.428													T|||	2352	0.469649	0.7073	0.3098	5008	,	,		20370	0.5724		0.2753	False		,,,				2504	0.3558				p.S71S		Atlas-SNP	.											QRICH2,NS,adenoma,0,1	QRICH2	143	1	0			c.A213T						scavenged	.	T		2922,1482	654.3+/-399.7	975,972,255	63	71	69		213	-1.3	0.1	17	dbSNP_116	69	2487,6111	384.7+/-341.2	349,1789,2161	no	coding-synonymous	QRICH2	NM_032134.1		1324,2761,2416	AA,AT,TT		28.9253,33.6512,41.6013		71/1664	74290097	5409,7593	2202	4299	6501	SO:0001819	synonymous_variant	84074	exon4			TGTTTCTGAGCCC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.213A>T	17.37:g.74290097T>A		Somatic	49	1	0.0204082		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_032134	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																			T|0.574;A|0.426	0.426	strong		0.428	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74290097	T	A	74290097	2	1	22	1	0	0	0	0	0	0	0	1	12880	1567	55	5		5	QRICH2	17	74290097	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	222	74290097	6905113	9053	14161			30	59	35025083	12	11	2894	N	TGA_T_G_C_A	1.47218e-07
QRICH2	84074	hgsc.bcm.edu	37	chr17	74300497	74300497	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcccccactggttcaccGcttgtgaggctctccagccg	11	17	2	1	rs73996306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74300497G>A	ENST00000262765.5	-	3	385	c.206C>T	c.(205-207)gCg>gTg	p.A69V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	69										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGGTTCACCGCTTGTGAGGC	0.572													G|||	432	0.086262	0.205	0.0303	5008	,	,		16207	0.0605		0.0308	False		,,,				2504	0.0491				p.A69V		Atlas-SNP	.											.	QRICH2	143	.	0			c.C206T						PASS	.	G	VAL/ALA	821,3585	323.2+/-298.0	72,677,1454	44	39	40		206	-8.6	0	17	dbSNP_130	40	224,8376	91.6+/-153.7	5,214,4081	yes	missense-near-splice	QRICH2	NM_032134.1	64	77,891,5535	AA,AG,GG		2.6047,18.6337,8.0348	benign	69/1664	74300497	1045,11961	2203	4300	6503	SO:0001630	splice_region_variant	84074	exon3			TTCACCGCTTGTG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.207+1C>T	17.37:g.74300497G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	175	0.08012820512820513	105	0.21341463414634146	9	0.024861878453038673	38	0.06643356643356643	23	0.030343007915567283	G	6.762	0.509446	0.12883	0.186337	0.026047	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08102	3.13	4.3	-8.6	0.00889	.	.	.	.	.	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	B	0.28584	0.216	B	0.22386	0.039	T	0.07290	-1.0780	8	0.30854	T	0.27	3.7254	3.628	0.08120	0.3878:0.3569:0.1652:0.0901	.	69	Q9H0J4	QRIC2_HUMAN	V	69	ENSP00000262765:A69V	ENSP00000262765:A69V	A	-	2	0	QRICH2	71812092	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.213000	0.00273	-3.605000	0.00133	-0.300000	0.09419	GCG	G|0.919;A|0.081	0.081	strong		0.572	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	Missense_Mutation	A	74300497	G	A	74300497	5	1	22	1	0	0	0	0	0	0	1	0	12880	1101	38	1	4853	1	QRICH2	17	74300497	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10400	74300497	6894713	9054	14162										
PRPSAP1	5635	hgsc.bcm.edu	37	chr17	74307737	74307737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtctttatcttgggacaTtgcagcttctgaacctcatg	8	10	4	1	rs10459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74307737T>C	ENST00000446526.3	-	10	1489	c.1044A>G	c.(1042-1044)caA>caG	p.Q348Q	PRPSAP1_ENST00000324684.4_Silent_p.Q245Q|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	319					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTTGGGACATTGCAGCTTCT	0.453													C|||	1284	0.25639	0.3154	0.17	5008	,	,		22164	0.4444		0.1471	False		,,,				2504	0.1564				p.Q348Q		Atlas-SNP	.											.	PRPSAP1	32	.	0			c.A1044G						PASS	.	C		1373,3033	689.2+/-405.1	200,973,1030	147	116	127		1044	4.9	1	17	dbSNP_52	127	1316,7284	758.1+/-407.5	115,1086,3099	no	coding-synonymous	PRPSAP1	NM_002766.2		315,2059,4129	CC,CT,TT		15.3023,31.1621,20.6751		348/386	74307737	2689,10317	2203	4300	6503	SO:0001819	synonymous_variant	5635	exon10			GGGACATTGCAGC	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1044A>G	17.37:g.74307737T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	152	80	0.526316	NM_002766	B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	CCDS11743.2																																																																																			T|0.766;C|0.234	0.234	strong		0.453	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		C	74307737	T	C	74307737	2	2	22	1	0	0	0	0	0	0	0	1	12581	1490	52	2		2	PRPSAP1	17	74307737	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7240	74307737	6887473	9055	14163										
SPHK1	8877	hgsc.bcm.edu	37	chr17	74383475	74383475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgcccctacttggtataTgtgcccgtggtcgccttccg	11	13	0	0	rs3744037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74383475T>C	ENST00000545180.1	+	8	1772	c.963T>C	c.(961-963)taT>taC	p.Y321Y	SPHK1_ENST00000392496.3_Silent_p.Y321Y|SPHK1_ENST00000323374.4_Silent_p.Y407Y|SPHK1_ENST00000590959.1_Silent_p.Y335Y|SPHK1_ENST00000592299.1_Silent_p.Y321Y			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	321					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	ACTTGGTATATGTGCCCGTGG	0.597													T|||	1073	0.214257	0.2057	0.1715	5008	,	,		20914	0.4028		0.1392	False		,,,				2504	0.1391				p.Y407Y	GBM(90;966 1307 27369 33775 44498)	Atlas-SNP	.											.	SPHK1	24	.	0			c.T1221C						PASS	.	T	,,,	932,3474	352.3+/-311.7	92,748,1363	88	80	83		963,963,1005,1221	-8.2	0	17	dbSNP_107	83	1416,7184	272.7+/-290.2	104,1208,2988	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPHK1	NM_001142601.1,NM_001142602.1,NM_021972.3,NM_182965.2	,,,	196,1956,4351	CC,CT,TT		16.4651,21.153,18.0532	,,,	321/385,321/385,335/399,407/471	74383475	2348,10658	2203	4300	6503	SO:0001819	synonymous_variant	8877	exon6			GGTATATGTGCCC	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.963T>C	17.37:g.74383475T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	62	0.607843	NM_182965	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	CCDS45785.1																																																																																			T|0.796;C|0.204	0.204	strong		0.597	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		C	74383475	T	C	74383475	2	2	22	1	0	0	0	0	0	0	0	1	15045	1471	51	2		2	SPHK1	17	74383475	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75738	74383475	6811735	9056	14164										
MGAT5B	146664	hgsc.bcm.edu	37	chr17	74878259	74878259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggccccgagtcccgcggcGtcctgcgcaagatgagcgac	16	15	0	2	rs571264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74878259G>A	ENST00000569840.2	+	3	782	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	MGAT5B_ENST00000428789.2_Missense_Mutation_p.V81I|MGAT5B_ENST00000565675.1_Missense_Mutation_p.V70I|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V70I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	70			V -> I (in dbSNP:rs571264).		protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCCCGCGGCGTCCTGCGCAA	0.687													G|||	2005	0.400359	0.6558	0.3905	5008	,	,		17448	0.3839		0.1431	False		,,,				2504	0.3436				p.V81I		Atlas-SNP	.											MGAT5B,colon,carcinoma,0,1	MGAT5B	98	1	0			c.G241A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL	2496,1910		730,1036,437	28	27	28		208,208,241	2.2	0.2	17	dbSNP_83	28	1153,7439		85,983,3228	yes	missense,missense,missense	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	29,29,29	815,2019,3665	AA,AG,GG		13.4195,43.35,28.0735	possibly-damaging,possibly-damaging,possibly-damaging	70/793,70/791,81/802	74878259	3649,9349	2203	4296	6499	SO:0001583	missense	146664	exon2			CGCGGCGTCCTGC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.208G>A	17.37:g.74878259G>A	ENSP00000456037:p.Val70Ile	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	152	81	0.532895	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	765	0.35027472527472525	305	0.6199186991869918	121	0.3342541436464088	226	0.3951048951048951	113	0.14907651715039577	G	13.67	2.305690	0.40795	0.5665	0.134195	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.50548	0.75;0.74	5.23	2.18	0.27775	.	0.315088	0.29225	N	0.012769	T	0.00012	0.0000	L	0.47716	1.5	0.41383	P	0.012440000000000007	B;B	0.17667	0.023;0.023	B;B	0.12156	0.007;0.004	T	0.40478	-0.9561	9	0.42905	T	0.14	-22.276	7.172	0.25724	0.2805:0.0:0.7195:0.0	rs571264;rs771729;rs60952655;rs571264	81;70	Q3V5L5-2;Q3V5L5-5	.;.	I	70;70;81	ENSP00000301618:V70I;ENSP00000391227:V81I	ENSP00000301618:V70I	V	+	1	0	MGAT5B	72389854	0.992000	0.36948	0.232000	0.24009	0.597000	0.36814	2.029000	0.41098	0.224000	0.20940	-0.258000	0.10820	GTC	G|0.665;A|0.335	0.335	strong		0.687	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74878259	G	A	74878259	3	1	22	1	0	0	0	0	1	0	0	0	9549	1145	40	1	319	1	MGAT5B	17	74878259	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	494784	74878259	6316951	9057	14165										
MGAT5B	146664	hgsc.bcm.edu	37	chr17	74921072	74921072	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggggtaccgccaggccgGggaagctgcccgctcaccat	14	14	1	0	rs3889145	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74921072G>C	ENST00000569840.2	+	9	1624	c.1050G>C	c.(1048-1050)cgG>cgC	p.R350R	MGAT5B_ENST00000301618.4_Silent_p.R350R|MGAT5B_ENST00000428789.2_Silent_p.R361R	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	350					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCAGGCCGGGGAAGCTGCC	0.612													G|||	1087	0.217053	0.1884	0.1988	5008	,	,		10952	0.1677		0.2157	False		,,,				2504	0.3211				p.R361R		Atlas-SNP	.											MGAT5B,NS,carcinoma,0,2	MGAT5B	98	2	0			c.G1083C						PASS	.	G	,,	857,3549	333.9+/-303.2	85,687,1431	83	87	86		1050,1050,1083	2.1	1	17	dbSNP_108	86	2021,6579	352.0+/-328.5	231,1559,2510	no	coding-synonymous,coding-synonymous,coding-synonymous	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	,,	316,2246,3941	CC,CG,GG		23.5,19.4507,22.1282	,,	350/793,350/791,361/802	74921072	2878,10128	2203	4300	6503	SO:0001819	synonymous_variant	146664	exon8			AGGCCGGGGAAGC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1050G>C	17.37:g.74921072G>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	87	41	0.471264	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	CCDS59299.1																																																																																			G|0.785;C|0.215	0.215	strong		0.612	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		C	74921072	G	C	74921072	2	2	22	1	0	0	0	0	0	0	0	1	9549	1219	43	4		4	MGAT5B	17	74921072	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42813	74921072	6274138	9058	14166										
MGAT5B	146664	hgsc.bcm.edu	37	chr17	74921129	74921129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatctacaccgactaccaCggcctgcagcagatgaagcg	9	15	2	2	rs34056052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:74921129C>T	ENST00000569840.2	+	9	1681	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	MGAT5B_ENST00000428789.2_Silent_p.H380H|MGAT5B_ENST00000301618.4_Silent_p.H369H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	369					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.H369H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGACTACCACGGCCTGCAGC	0.627													C|||	295	0.0589058	0.0166	0.072	5008	,	,		10333	0.0784		0.0954	False		,,,				2504	0.0491				p.H380H		Atlas-SNP	.											MGAT5B,NS,carcinoma,0,2	MGAT5B	98	2	1	Substitution - coding silent(1)	stomach(1)	c.C1140T						PASS	.	C	,,	111,4295	84.4+/-122.9	0,111,2092	94	86	89		1107,1107,1140	-4.1	1	17	dbSNP_126	89	773,7827	181.8+/-230.4	39,695,3566	no	coding-synonymous,coding-synonymous,coding-synonymous	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	,,	39,806,5658	TT,TC,CC		8.9884,2.5193,6.7969	,,	369/793,369/791,380/802	74921129	884,12122	2203	4300	6503	SO:0001819	synonymous_variant	146664	exon8			CTACCACGGCCTG	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1107C>T	17.37:g.74921129C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	107	53	0.495327	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	CCDS59299.1																																																																																			C|0.932;T|0.068	0.068	strong		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		T	74921129	C	T	74921129	2	4	22	1	0	0	0	0	0	0	0	1	9549	535	19	1		1	MGAT5B	17	74921129	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57	74921129	6274081	9059	14167										
SEPT9	10801	hgsc.bcm.edu	37	chr17	75471762	75471762	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggagactgctgggcccacGctgggccggggtggatggag	20	9	0	1	rs312821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:75471762G>A	ENST00000427177.1	+	4	847				SEPT9_ENST00000591088.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000427180.1_Silent_p.T54T|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000431235.2_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTGGGCCCACGCTGGGCCGGG	0.642													G|||	387	0.0772764	0.2799	0.0231	5008	,	,		18847	0.0		0.001	False		,,,				2504	0.0				p.T54T		Atlas-SNP	.											.	SEPT9	105	.	0			c.G162A						PASS	.	G	,,,,,,	718,2418		83,552,933	35	38	37		,,,,162,,	-1.7	0	17	dbSNP_79	37	18,7146		0,18,3564	no	intron,intron,intron,intron,coding-synonymous,intron,intron	SEPT9	NM_001113491.1,NM_001113492.1,NM_001113493.1,NM_001113494.1,NM_001113495.1,NM_001113496.1,NM_006640.4	,,,,,,	83,570,4497	AA,AG,GG		0.2513,22.8954,7.1456	,,,,,,	,,,,54/475,,	75471762	736,9564	1568	3582	5150	SO:0001627	intron_variant	10801	exon1			GCCCACGCTGGGC	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6464G>A	17.37:g.75471762G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	83	44	0.53012	NM_001113495	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	CCDS45790.1																																																																																			G|0.937;A|0.063	0.063	strong		0.642	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		A	75471762	G	A	75471762	1	1	22	0	1	0	0	0	0	0	0	0	14071	1074	38	1		1	SEPT9	17	75471762	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	550633	75471762	5723448	9060	14168										
TNRC6C	57690	hgsc.bcm.edu	37	chr17	76093866	76093866	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaatgccacgctgccttcTtcgagtgcctggccactcag	10	15	2	1	rs2290906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76093866T>C	ENST00000588061.1	+	19	5033				TNRC6C_ENST00000541771.1_Intron|TNRC6C_ENST00000544502.1_Silent_p.S1446S|TNRC6C_ENST00000588847.1_Silent_p.S1446S|TNRC6C_ENST00000301624.4_Intron|TNRC6C_ENST00000335749.4_Silent_p.S1446S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C						embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCTGCCTTCTTCGAGTGCCT	0.587													C|||	1470	0.29353	0.4107	0.2666	5008	,	,		19861	0.2976		0.1252	False		,,,				2504	0.3231				p.S1446S		Atlas-SNP	.											.	TNRC6C	173	.	0			c.T4338C						PASS	.	C	,	489,895		86,317,289	43	40	41		4338,	2.6	1	17	dbSNP_100	41	468,2714		31,406,1154	no	coding-synonymous,intron	TNRC6C	NM_001142640.1,NM_018996.3	,	117,723,1443	CC,CT,TT		14.7077,35.3324,20.9593	,	1446/1727,	76093866	957,3609	692	1591	2283	SO:0001627	intron_variant	57690	exon18			GCCTTCTTCGAGT	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4307-558T>C	17.37:g.76093866T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	104	48	0.461538	NM_001142640	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			T|0.737;C|0.263	0.263	strong		0.587	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		C	76093866	T	C	76093866	1	2	22	0	1	0	0	0	0	0	0	0	16339	1596	56	3		3	TNRC6C	17	76093866	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	622104	76093866	5101344	9061	14169										
TMC8	147138	hgsc.bcm.edu	37	chr17	76127746	76127746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctgtgggaggcagagaTggagcggctgcgcggctctg	21	8	1	1	rs145016347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76127746T>C	ENST00000318430.5	+	2	451	c.77T>C	c.(76-78)aTg>aCg	p.M26T	TMC6_ENST00000589553.1_5'Flank|TMC8_ENST00000589691.1_Intron|TMC6_ENST00000590602.1_5'Flank|TMC6_ENST00000322933.4_5'Flank|TMC6_ENST00000322914.3_Intron	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	26					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)			GAGGCAGAGATGGAGCGGCTG	0.726													T|||	145	0.0289537	0.0038	0.0216	5008	,	,		12067	0.006		0.0229	False		,,,				2504	0.0982				p.M26T		Atlas-SNP	.											.	TMC8	44	.	0			c.T77C						PASS	.	T	,THR/MET	15,4205		0,15,2095	7	9	9		,77	3.1	1	17	dbSNP_134	9	218,8122		2,214,3954	no	intron,missense	TMC6,TMC8	NM_007267.6,NM_152468.4	,81	2,229,6049	CC,CT,TT		2.6139,0.3555,1.8551	,benign	,26/727	76127746	233,12327	2110	4170	6280	SO:0001583	missense	147138	exon2			CAGAGATGGAGCG	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.77T>C	17.37:g.76127746T>C	ENSP00000325561:p.Met26Thr	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	60	26	0.433333	NM_152468	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	32	0.014652014652014652	2	0.0040650406504065045	9	0.024861878453038673	2	0.0034965034965034965	19	0.025065963060686015	T	11.47	1.648700	0.29336	0.003555	0.026139	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.74947	-0.89	3.13	3.13	0.36017	.	1.015750	0.07922	U	0.975995	T	0.40297	0.1111	L	0.34521	1.04	0.80722	D	1	B;B	0.24823	0.112;0.005	B;B	0.23574	0.047;0.004	T	0.54159	-0.8335	10	0.52906	T	0.07	-11.5249	7.8883	0.29663	0.0:0.0:0.0:1.0	.	26;26	B4E0S0;Q8IU68	.;TMC8_HUMAN	T	26	ENSP00000325561:M26T	ENSP00000301627:M26T	M	+	2	0	TMC8	73639341	1.000000	0.71417	0.997000	0.53966	0.666000	0.39218	1.811000	0.38942	1.422000	0.47177	0.379000	0.24179	ATG	T|0.985;C|0.015	0.015	strong		0.726	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			C	76127746	T	C	76127746	3	2	22	1	0	0	0	0	1	0	0	0	15988	1464	51	2	79	2	TMC8	17	76127746	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33880	76127746	5067464	9062	14170										
TMC8	147138	hgsc.bcm.edu	37	chr17	76134237	76134237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcccctgctgaatagcGtcttcctcttcctcaccttc	6	17	3	1	rs11651675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76134237G>A	ENST00000318430.5	+	12	1875	c.1501G>A	c.(1501-1503)Gtc>Atc	p.V501I	TMC8_ENST00000589691.1_Missense_Mutation_p.V278I	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	501			V -> I (in dbSNP:rs11651675).		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)			GCTGAATAGCGTCTTCCTCTT	0.612													G|||	214	0.0427316	0.0287	0.0144	5008	,	,		17634	0.0089		0.0278	False		,,,				2504	0.1319				p.V501I		Atlas-SNP	.											.	TMC8	44	.	0			c.G1501A						PASS	.	G	ILE/VAL	98,4308	78.8+/-117.2	0,98,2105	81	82	82		1501	-6.6	0	17	dbSNP_120	82	332,8268	115.2+/-175.0	5,322,3973	yes	missense	TMC8	NM_152468.4	29	5,420,6078	AA,AG,GG		3.8605,2.2242,3.3062	benign	501/727	76134237	430,12576	2203	4300	6503	SO:0001583	missense	147138	exon12			AATAGCGTCTTCC	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.1501G>A	17.37:g.76134237G>A	ENSP00000325561:p.Val501Ile	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	135	66	0.488889	NM_152468	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	43	0.019688644688644688	11	0.022357723577235773	6	0.016574585635359115	3	0.005244755244755245	23	0.030343007915567283	G	7.442	0.640821	0.14386	0.022242	0.038605	ENSG00000167895	ENST00000318430	T	0.63913	-0.07	4.57	-6.58	0.01836	.	1.053430	0.07340	N	0.880564	T	0.09379	0.0231	N	0.03304	-0.355	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.31613	-0.9937	10	0.12430	T	0.62	-17.6016	14.016	0.64525	0.6643:0.0:0.3357:0.0	rs11651675;rs11651675	501	Q8IU68	TMC8_HUMAN	I	501	ENSP00000325561:V501I	ENSP00000325561:V501I	V	+	1	0	TMC8	73645832	0.000000	0.05858	0.018000	0.16275	0.929000	0.56500	-1.675000	0.01947	-1.222000	0.02587	-1.008000	0.02478	GTC	G|0.969;A|0.031	0.031	strong		0.612	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76134237	G	A	76134237	3	1	22	1	0	0	0	0	1	0	0	0	15988	1145	40	1	1543	1	TMC8	17	76134237	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6491	76134237	5060973	9063	14171										
SYNGR2	9144	hgsc.bcm.edu	37	chr17	76167047	76167047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccttcctggcctcggcCttcttcttggtggtcgacgc	12	15	2	0	rs1062668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76167047C>T	ENST00000225777.3	+	2	308	c.249C>T	c.(247-249)gcC>gcT	p.A83A	SYNGR2_ENST00000585591.1_Silent_p.A83A|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000588282.1_Silent_p.A83A|SYNGR2_ENST00000590201.1_Silent_p.A27A|SYNGR2_ENST00000592456.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	83	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			TGGCCTCGGCCTTCTTCTTGG	0.582													C|||	383	0.0764776	0.0386	0.1153	5008	,	,		19484	0.002		0.1203	False		,,,				2504	0.1319				p.A83A		Atlas-SNP	.											SYNGR2,NS,carcinoma,+2,1	SYNGR2	17	1	0			c.C249T						scavenged	.	C		252,4154	146.5+/-181.1	7,238,1958	121	98	106		249	3.9	1	17	dbSNP_86	106	1254,7346	250.7+/-277.5	87,1080,3133	no	coding-synonymous	SYNGR2	NM_004710.3		94,1318,5091	TT,TC,CC		14.5814,5.7195,11.5793		83/225	76167047	1506,11500	2203	4300	6503	SO:0001819	synonymous_variant	9144	exon2			CTCGGCCTTCTTC	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"cellugyrin"	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.249C>T	17.37:g.76167047C>T		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_004710	O43762|Q3KQZ2|Q658S7	Silent	SNP	ENST00000225777.3	37	CCDS11753.1																																																																																			C|0.889;T|0.111	0.111	strong		0.582	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2			T	76167047	C	T	76167047	2	4	22	1	0	0	0	0	0	0	0	1	15446	668	24	2		2	SYNGR2	17	76167047	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32810	76167047	5028163	9064	14172										
DNAH17	9489	hgsc.bcm.edu	37	chr17	76422599	76422599	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatcatggaggggtaggccCgggccacccacgtatcaggc	14	14	2	0	rs35973257	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76422599C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000389840.5_Missense_Mutation_p.R4308Q|DNAH17_ENST00000585328.1_Missense_Mutation_p.R4280Q|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_Missense_Mutation_p.P64L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGGGTAGGCCCGGGCCACCCA	0.597													C|||	61	0.0121805	0.003	0.0259	5008	,	,		20290	0.0		0.0338	False		,,,				2504	0.0051				p.R4285Q	Esophageal Squamous(45;182 1126 10685 43198)	Atlas-SNP	.											.	DNAH17	347	.	0			c.G12854A						PASS	.	C	GLN/ARG	25,4381	31.7+/-61.6	0,25,2178	56	60	59		12854	5	1	17	dbSNP_126	59	285,8315	105.8+/-166.7	4,277,4019	yes	missense	DNAH17	NM_173628.3	43	4,302,6197	TT,TC,CC		3.314,0.5674,2.3835	possibly-damaging	4285/4463	76422599	310,12696	2203	4300	6503	SO:0001628	intergenic_variant	8632	exon79			TAGGCCCGGGCCA		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422599C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	124	49	0.395161	NM_173628	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	51	0.023351648351648352	6	0.012195121951219513	12	0.03314917127071823	1	0.0017482517482517483	32	0.04221635883905013	C	17.54	3.416107	0.62511	0.005674	0.03314	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09350	2.99	5.03	5.03	0.67393	.	0.275476	0.25997	N	0.026969	T	0.02970	0.0088	M	0.73372	2.23	0.33890	D	0.63722	P	0.45827	0.867	B	0.42959	0.403	T	0.08680	-1.0710	10	0.36615	T	0.2	.	7.4763	0.27378	0.1681:0.7425:0.0:0.0893	rs35973257	4280	E7EUM8	.	Q	4280;4308	ENSP00000374490:R4308Q	ENSP00000300671:R4280Q	R	-	2	0	DNAH17	73934194	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.411000	0.34702	2.608000	0.88229	0.655000	0.94253	CGG	C|0.976;T|0.024	0.024	strong		0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		T	76422599	C	T	76422599	1	4	22	0	1	0	0	0	0	0	0	0	4601	652	23	1		1	DNAH17	17	76422599	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	255552	76422599	4772611	9065	14173										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76447617	76447617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagttggtcctcgagtccAtccctggtgaccaggaagtt	12	10	0	2	rs34002770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76447617A>G	ENST00000585328.1	-	66	10777	c.10653T>C	c.(10651-10653)gaT>gaC	p.D3551D	DNAH17_ENST00000389840.5_Silent_p.D3542D|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3542	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTCGAGTCCATCCCTGGTGA	0.562													A|||	146	0.0291534	0.1044	0.0086	5008	,	,		21631	0.0		0.002	False		,,,				2504	0.0				p.D3556D		Atlas-SNP	.											.	DNAH17	347	.	0			c.T10668C						PASS	.	A		376,4030	191.9+/-217.4	17,342,1844	301	246	265		10668	-3.6	0.8	17	dbSNP_126	265	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DNAH17	NM_173628.3		17,346,6140	GG,GA,AA		0.0465,8.5338,2.9217		3556/4463	76447617	380,12626	2203	4300	6503	SO:0001819	synonymous_variant	8632	exon66			GAGTCCATCCCTG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10653T>C	17.37:g.76447617A>G		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	267	125	0.468165	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				A|0.969;G|0.031	0.031	strong		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76447617	A	G	76447617	2	3	22	1	0	0	0	0	0	0	0	1	4601	214	8	2		2	DNAH17	17	76447617	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25018	76447617	4747593	9066	14174										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76464916	76464916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctgtcatcaggaacaccGagggaacgttcttcacggca	11	11	5	0	rs635874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76464916G>A	ENST00000585328.1	-	55	8670	c.8546C>T	c.(8545-8547)tCg>tTg	p.S2849L	DNAH17_ENST00000389840.5_Missense_Mutation_p.S2840L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2840	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGAACACCGAGGGAACGTT	0.542													G|||	588	0.117412	0.2723	0.0893	5008	,	,		19385	0.0605		0.0696	False		,,,				2504	0.0358				p.S2854L		Atlas-SNP	.											.	DNAH17	347	.	0			c.C8561T						PASS	.	G	LEU/SER	1019,3167		129,761,1203	80	85	83		8561	5	1	17	dbSNP_83	83	497,7909		14,469,3720	yes	missense	DNAH17	NM_173628.3	145	143,1230,4923	AA,AG,GG		5.9124,24.343,12.0394		2854/4463	76464916	1516,11076	2093	4203	6296	SO:0001583	missense	8632	exon55			AACACCGAGGGAA	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8546C>T	17.37:g.76464916G>A	ENSP00000465516:p.Ser2849Leu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	62	61	0.983871	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		271	0.12408424908424909	156	0.3170731707317073	28	0.07734806629834254	35	0.06118881118881119	52	0.06860158311345646	G	15.44	2.834471	0.50951	0.24343	0.059124	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.47869	0.83	4.99	4.99	0.66335	.	.	.	.	.	T	0.00012	0.0000	N	0.11364	0.135	0.29297	P	0.868968	.	.	.	.	.	.	T	0.39742	-0.9599	6	0.32370	T	0.25	.	15.4091	0.74902	0.0:0.1392:0.8608:0.0	rs635874;rs52813249;rs59866694;rs635874	.	.	.	L	2849;2840	ENSP00000374490:S2840L	ENSP00000300671:S2849L	S	-	2	0	DNAH17	73976511	1.000000	0.71417	0.971000	0.41717	0.739000	0.42172	6.493000	0.73658	2.327000	0.79052	0.650000	0.86243	TCG	G|0.874;A|0.126	0.126	strong		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76464916	G	A	76464916	3	1	22	1	0	0	0	0	1	0	0	0	4601	1059	37	1	4935	1	DNAH17	17	76464916	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17299	76464916	4730294	9067	14175										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76472768	76472768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatgtagccaaaggcggacGaggtccagtggggttttcag	15	8	2	0	rs7405830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76472768G>A	ENST00000585328.1	-	52	8149	c.8025C>T	c.(8023-8025)ctC>ctT	p.L2675L	DNAH17_ENST00000389840.5_Silent_p.L2666L|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2666					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAAGGCGGACGAGGTCCAGTG	0.507													A|||	1881	0.375599	0.761	0.2435	5008	,	,		20560	0.2798		0.1909	False		,,,				2504	0.2372				p.L2680L		Atlas-SNP	.											.	DNAH17	347	.	0			c.C8040T						PASS	.	A		2623,1379		873,877,251	110	124	119		8040	-9.5	0.4	17	dbSNP_116	119	1610,6712		158,1294,2709	no	coding-synonymous	DNAH17	NM_173628.3		1031,2171,2960	AA,AG,GG		19.3463,34.4578,34.3476		2680/4463	76472768	4233,8091	2001	4161	6162	SO:0001819	synonymous_variant	8632	exon52			GCGGACGAGGTCC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8025C>T	17.37:g.76472768G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	261	260	0.996169	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.641;A|0.359	0.359	strong		0.507	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76472768	G	A	76472768	2	1	22	1	0	0	0	0	0	0	0	1	4601	1045	37	1		1	DNAH17	17	76472768	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7852	76472768	4722442	9068	14176										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76482435	76482435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactccagcaggtacagaatCgtttggatcaccgtgatctc	9	12	2	2	rs61743860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76482435C>T	ENST00000585328.1	-	45	7081	c.6957G>A	c.(6955-6957)acG>acA	p.T2319T	RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Silent_p.T2310T|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2310					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTACAGAATCGTTTGGATCA	0.572													C|||	413	0.0824681	0.0234	0.0634	5008	,	,		18447	0.1478		0.0924	False		,,,				2504	0.0982				p.T2324T		Atlas-SNP	.											.	DNAH17	347	.	0			c.G6972A						PASS	.	C		158,4196		2,154,2021	76	81	79		6972	-3.9	0.2	17	dbSNP_129	79	778,7764		30,718,3523	no	coding-synonymous	DNAH17	NM_173628.3		32,872,5544	TT,TC,CC		9.1079,3.6288,7.2581		2324/4463	76482435	936,11960	2177	4271	6448	SO:0001819	synonymous_variant	8632	exon45			CAGAATCGTTTGG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6957G>A	17.37:g.76482435C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	171	95	0.555556	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				C|0.909;T|0.091	0.091	strong		0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76482435	C	T	76482435	2	4	22	1	0	0	0	0	0	0	0	1	4601	871	31	1		1	DNAH17	17	76482435	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9667	76482435	4712775	9069	14177										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76521121	76521121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcccagagctccttcagTaggcggacctcccggtggca	12	14	1	1	rs17729253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76521121T>C	ENST00000585328.1	-	25	3949	c.3825A>G	c.(3823-3825)ctA>ctG	p.L1275L	DNAH17_ENST00000389840.5_Silent_p.L1274L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1274	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCTTCAGTAGGCGGACCT	0.662													.|||	736	0.146965	0.0363	0.2046	5008	,	,		16804	0.0873		0.2634	False		,,,				2504	0.1973				p.L1278L		Atlas-SNP	.											.	DNAH17	347	.	0			c.A3834G						PASS	.	C		226,3916		2,222,1847	64	71	69		3834	4.4	1	17	dbSNP_123	69	2221,6211		304,1613,2299	no	coding-synonymous	DNAH17	NM_173628.3		306,1835,4146	CC,CT,TT		26.3401,5.4563,19.4608		1278/4463	76521121	2447,10127	2071	4216	6287	SO:0001819	synonymous_variant	8632	exon25			CTTCAGTAGGCGG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3825A>G	17.37:g.76521121T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	59	27	0.457627	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				T|0.830;C|0.170	0.170	strong		0.662	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76521121	T	C	76521121	2	2	22	1	0	0	0	0	0	0	0	1	4601	1625	57	2		2	DNAH17	17	76521121	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38686	76521121	4674089	9070	14178										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76522784	76522784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaggagaacggggcctcGcgcctgaacctctccctgaa	12	14	1	4	rs61744545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76522784G>A	ENST00000585328.1	-	24	3775	c.3651C>T	c.(3649-3651)cgC>cgT	p.R1217R	DNAH17_ENST00000389840.5_Silent_p.R1220R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1220	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACGGGGCCTCGCGCCTGAACC	0.582													.|||	317	0.0632987	0.0318	0.0576	5008	,	,		14498	0.0129		0.0825	False		,,,				2504	0.1421				p.R1220R		Atlas-SNP	.											DNAH17,NS,carcinoma,-2,1	DNAH17	347	1	0			c.C3660T						PASS	.	G		131,3799		0,131,1834	46	50	48		3660	-8.7	0	17	dbSNP_129	48	846,7442		45,756,3343	no	coding-synonymous	DNAH17	NM_173628.3		45,887,5177	AA,AG,GG		10.2075,3.3333,7.9964		1220/4463	76522784	977,11241	1965	4144	6109	SO:0001819	synonymous_variant	8632	exon24			GGCCTCGCGCCTG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3651C>T	17.37:g.76522784G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	130	61	0.469231	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.933;A|0.067	0.067	strong		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76522784	G	A	76522784	2	1	22	1	0	0	0	0	0	0	0	1	4601	1074	38	1		1	DNAH17	17	76522784	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1663	76522784	4672426	9071	14179										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76528591	76528591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaactgagccagggtgggCggtgtcttggggatggtgtc	20	6	1	1	rs11868065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76528591C>T	ENST00000585328.1	-	20	3202	c.3078G>A	c.(3076-3078)ccG>ccA	p.P1026P	DNAH17_ENST00000389840.5_Silent_p.P1029P|RN7SL454P_ENST00000492744.2_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1029	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCAGGGTGGGCGGTGTCTTGG	0.552													C|||	2307	0.460663	0.5008	0.4193	5008	,	,		18466	0.4167		0.5348	False		,,,				2504	0.4049				p.P1029P		Atlas-SNP	.											.	DNAH17	347	.	0			c.G3087A						PASS	.	C		2074,2050		529,1016,517	35	39	38		3087	-8	0	17	dbSNP_120	38	4501,3869		1207,2087,891	no	coding-synonymous	DNAH17	NM_173628.3		1736,3103,1408	TT,TC,CC		46.2246,49.709,47.3747		1029/4463	76528591	6575,5919	2062	4185	6247	SO:0001819	synonymous_variant	8632	exon20			GGTGGGCGGTGTC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3078G>A	17.37:g.76528591C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	114	111	0.973684	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				C|0.509;T|0.491	0.491	strong		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76528591	C	T	76528591	2	4	22	1	0	0	0	0	0	0	0	1	4601	755	27	1		1	DNAH17	17	76528591	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5807	76528591	4666619	9072	14180										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76528790	76528790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacctcctccctcatctctAtgaggtctgtgttatcttcc	5	15	4	1	rs11651537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76528790A>G	ENST00000585328.1	-	20	3003	c.2879T>C	c.(2878-2880)aTa>aCa	p.I960T	RN7SL454P_ENST00000492744.2_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.I963T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	963	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTCATCTCTATGAGGTCTGT	0.522													A|||	2298	0.458866	0.5015	0.4179	5008	,	,		21569	0.4157		0.5318	False		,,,				2504	0.3998				p.I963T		Atlas-SNP	.											.	DNAH17	347	.	0			c.T2888C						PASS	.	A	THR/ILE	1965,1971		495,975,498	31	29	29		2888	3	1	17	dbSNP_120	29	4411,3897		1167,2077,910	yes	missense	DNAH17	NM_173628.3	89	1662,3052,1408	GG,GA,AA		46.9066,49.9238,47.9255		963/4463	76528790	6376,5868	1968	4154	6122	SO:0001583	missense	8632	exon20			ATCTCTATGAGGT	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2879T>C	17.37:g.76528790A>G	ENSP00000465516:p.Ile960Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	94	93	0.989362	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		1044	0.47802197802197804	226	0.45934959349593496	166	0.4585635359116022	235	0.41083916083916083	417	0.5501319261213721	A	0.466	-0.886596	0.02511	0.499238	0.530934	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.23552	1.9	5.2	2.99	0.34606	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	.	.	.	.	.	.	T	0.45483	-0.9258	6	0.16420	T	0.52	.	4.7212	0.12918	0.5964:0.1617:0.2418:0.0	rs11651537;rs59012278	.	.	.	T	960;963	ENSP00000374490:I963T	ENSP00000300671:I960T	I	-	2	0	DNAH17	74040385	0.000000	0.05858	0.968000	0.41197	0.233000	0.25261	0.453000	0.21811	1.947000	0.56498	0.379000	0.24179	ATA	A|0.513;G|0.487	0.487	strong		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76528790	A	G	76528790	3	3	22	1	0	0	0	0	1	0	0	0	4601	449	16	2	10748	2	DNAH17	17	76528790	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	199	76528790	4666420	9073	14181										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76547634	76547634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccttcatagcctgggaaaTtccttctatattttgttttg	6	8	2	0	rs16971526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76547634T>C	ENST00000585328.1	-	16	2498	c.2374A>G	c.(2374-2376)Att>Gtt	p.I792V	DNAH17_ENST00000389840.5_Missense_Mutation_p.I792V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	792	Stem. {ECO:0000250}.		I -> V (in dbSNP:rs16971526).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTGGGAAATTCCTTCTATA	0.498													T|||	496	0.0990415	0.0265	0.1167	5008	,	,		19070	0.1032		0.1034	False		,,,				2504	0.1759				p.I792V		Atlas-SNP	.											.	DNAH17	347	.	0			c.A2374G						PASS	.	T	VAL/ILE	186,4220	118.8+/-156.5	5,176,2022	160	128	139		2374	2.4	0	17	dbSNP_123	139	1147,7453	236.2+/-268.5	81,985,3234	yes	missense	DNAH17	NM_173628.3	29	86,1161,5256	CC,CT,TT		13.3372,4.2215,10.2491	possibly-damaging	792/4463	76547634	1333,11673	2203	4300	6503	SO:0001583	missense	8632	exon16			GGGAAATTCCTTC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2374A>G	17.37:g.76547634T>C	ENSP00000465516:p.Ile792Val	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	153	64	0.418301	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		193	0.08836996336996338	19	0.03861788617886179	49	0.13535911602209943	49	0.08566433566433566	76	0.10026385224274406	T	2.588	-0.295801	0.05532	0.042215	0.133372	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26957	1.7	4.6	2.37	0.29283	.	.	.	.	.	T	0.00300	0.0009	M	0.72576	2.205	0.80722	P	0.0	P	0.45240	0.854	P	0.51266	0.664	T	0.04115	-1.0976	8	0.54805	T	0.06	.	7.479	0.27393	0.0:0.1769:0.0:0.8231	rs16971526;rs52814830;rs16971526	494	Q9UFH2-4	.	V	792	ENSP00000374490:I792V	ENSP00000300671:I792V	I	-	1	0	DNAH17	74059229	0.898000	0.30612	0.009000	0.14445	0.015000	0.08874	1.822000	0.39052	0.239000	0.21243	0.379000	0.24179	ATT	T|0.904;C|0.096	0.096	strong		0.498	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76547634	T	C	76547634	3	2	22	1	0	0	0	0	1	0	0	0	4601	1493	52	2	11278	2	DNAH17	17	76547634	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18844	76547634	4647576	9074	14182										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76570924	76570924	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtaaacccctttggacttGagggactgggggaagcccag	14	9	0	1	rs61745225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:76570924G>A	ENST00000585328.1	-	2	340	c.216C>T	c.(214-216)ctC>ctT	p.L72L	DNAH17_ENST00000389840.5_Silent_p.L72L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	72	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTTGGACTTGAGGGACTGGG	0.557													G|||	358	0.0714856	0.2496	0.0375	5008	,	,		17437	0.0		0.002	False		,,,				2504	0.0				p.L72L		Atlas-SNP	.											.	DNAH17	347	.	0			c.C216T						PASS	.	G		781,3257		77,627,1315	118	126	123		216	4.1	1	17	dbSNP_129	123	15,8343		0,15,4164	no	coding-synonymous	DNAH17	NM_173628.3		77,642,5479	AA,AG,GG		0.1795,19.3413,6.4214		72/4463	76570924	796,11600	2019	4179	6198	SO:0001819	synonymous_variant	8632	exon2			GGACTTGAGGGAC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.216C>T	17.37:g.76570924G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	205	85	0.414634	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.948;A|0.052	0.052	strong		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76570924	G	A	76570924	2	1	22	1	0	0	0	0	0	0	0	1	4601	1277	45	2		2	DNAH17	17	76570924	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23290	76570924	4624286	9075	14183										
ENGASE	64772	hgsc.bcm.edu	37	chr17	77079576	77079576	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggcaggttctggggccgActggagcgttatctgcccac	14	12	3	0	rs61756761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77079576A>G	ENST00000579016.1	+	9	1155	c.1155A>G	c.(1153-1155)cgA>cgG	p.R385R	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	385						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTGGGGCCGACTGGAGCGTT	0.612													G|||	682	0.136182	0.357	0.0677	5008	,	,		20375	0.0476		0.0577	False		,,,				2504	0.0583				p.R385R		Atlas-SNP	.											ENGASE,NS,carcinoma,+1,1	ENGASE	55	1	0			c.A1155G						PASS	.	G		1152,3078		150,852,1113	92	102	99		1155	5.5	0.9	17	dbSNP_129	99	481,7973		9,463,3755	no	coding-synonymous	ENGASE	NM_001042573.1		159,1315,4868	GG,GA,AA		5.6896,27.234,12.8745		385/744	77079576	1633,11051	2115	4227	6342	SO:0001819	synonymous_variant	64772	exon9			GGGCCGACTGGAG	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1155A>G	17.37:g.77079576A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	169	86	0.508876	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	CCDS42394.1																																																																																			A|0.902;G|0.098	0.098	strong		0.612	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		G	77079576	A	G	77079576	2	3	22	1	0	0	0	0	0	0	0	1	5118	262	10	2		2	ENGASE	17	77079576	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	508652	77079576	4115634	9076	14184										
ENGASE	64772	hgsc.bcm.edu	37	chr17	77079854	77079854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcttcaggaagaggcggtAgggccctggtaccacctgag	14	10	2	2	rs61729127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77079854A>G	ENST00000579016.1	+	10	1263	c.1263A>G	c.(1261-1263)gtA>gtG	p.V421V	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	421						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AAGAGGCGGTAGGGCCCTGGT	0.652													G|||	405	0.0808706	0.2912	0.0231	5008	,	,		17851	0.0		0.003	False		,,,				2504	0.001				p.V421V		Atlas-SNP	.											.	ENGASE	55	.	0			c.A1263G						PASS	.	G		847,3141		93,661,1240	50	59	56		1263	4.9	0.9	17	dbSNP_129	56	31,8303		0,31,4136	no	coding-synonymous	ENGASE	NM_001042573.1		93,692,5376	GG,GA,AA		0.372,21.2387,7.1255		421/744	77079854	878,11444	1994	4167	6161	SO:0001819	synonymous_variant	64772	exon10			GGCGGTAGGGCCC	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1263A>G	17.37:g.77079854A>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	CCDS42394.1																																																																																			A|0.956;G|0.044	0.044	strong		0.652	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		G	77079854	A	G	77079854	2	3	22	1	0	0	0	0	0	0	0	1	5118	407	15	3		3	ENGASE	17	77079854	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	278	77079854	4115356	9077	14185										
ENGASE	64772	hgsc.bcm.edu	37	chr17	77082390	77082390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttccgggtacctcaggccGagtggggcagggcagttctg	18	10	2	0	rs11871357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77082390G>A	ENST00000579016.1	+	14	2191	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	731			E -> K (in dbSNP:rs11871357).			cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACCTCAGGCCGAGTGGGGCAG	0.652													G|||	226	0.0451278	0.1672	0.0072	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.0				p.E731K		Atlas-SNP	.											ENGASE,NS,carcinoma,-1,1	ENGASE	55	1	0			c.G2191A						PASS	.	G	LYS/GLU	507,3419		28,451,1484	42	50	47		2191	3.7	0.9	17	dbSNP_120	47	12,8276		0,12,4132	yes	missense	ENGASE	NM_001042573.1	56	28,463,5616	AA,AG,GG		0.1448,12.9139,4.2492	possibly-damaging	731/744	77082390	519,11695	1963	4144	6107	SO:0001583	missense	64772	exon14			CAGGCCGAGTGGG	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2191G>A	17.37:g.77082390G>A	ENSP00000462333:p.Glu731Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	62	0.028388278388278388	61	0.12398373983739837	1	0.0027624309392265192	0	0.0	0	0.0	G	9.605	1.129684	0.21041	0.129139	0.001448	ENSG00000167280	ENST00000545583	.	.	.	4.78	3.74	0.42951	.	0.425847	0.25291	N	0.031721	T	0.00328	0.0010	M	0.65975	2.015	0.42538	D	0.993067	P	0.45011	0.848	B	0.33960	0.173	T	0.06972	-1.0797	9	0.15066	T	0.55	-28.3266	3.1644	0.06530	0.0965:0.1746:0.5481:0.1808	rs11871357;rs11871357	731	Q8NFI3	ENASE_HUMAN	K	731	.	ENSP00000438577:E731K	E	+	1	0	ENGASE	74593985	0.563000	0.26594	0.919000	0.36401	0.056000	0.15407	1.450000	0.35134	2.193000	0.70182	0.591000	0.81541	GAG	G|0.965;A|0.035	0.035	strong		0.652	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		A	77082390	G	A	77082390	3	1	22	1	0	0	0	0	1	0	0	0	5118	1059	37	1	2245	1	ENGASE	17	77082390	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2536	77082390	4112820	9078	14186										
CBX2	84733	hgsc.bcm.edu	37	chr17	77755894	77755894	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcagacaagcactcttCcctcccagggggtccttggg	12	14	1	1	rs9912676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77755894C>G	ENST00000310942.4	+	4	392				CBX2_ENST00000269399.5_Missense_Mutation_p.F194L	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2						cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAGCACTCTTCCCTCCCAGGG	0.592													C|||	131	0.0261581	0.0961	0.0058	5008	,	,		17679	0.0		0.0	False		,,,				2504	0.0				p.F194L		Atlas-SNP	.											.	CBX2	50	.	0			c.C582G						PASS	.	C	,LEU/PHE	365,4037		13,339,1849	36	41	39		,582	0.7	0	17	dbSNP_119	39	3,8587		0,3,4292	yes	intron,missense	CBX2	NM_005189.2,NM_032647.3	,22	13,342,6141	GG,GC,CC		0.0349,8.2917,2.8325	,	,194/212	77755894	368,12624	2201	4295	6496	SO:0001627	intron_variant	84733	exon4			ACTCTTCCCTCCC	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.288+294C>G	17.37:g.77755894C>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	116	42	0.362069	NM_032647	Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	CCDS32757.1	44	0.020146520146520148	42	0.08536585365853659	2	0.0055248618784530384	0	0.0	0	0.0	C	0.251	-1.006634	0.02112	0.082917	3.49E-4	ENSG00000173894	ENST00000269399	.	.	.	2.87	0.722	0.18225	.	.	.	.	.	T	0.00815	0.0027	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13388	-1.0511	6	.	.	.	.	5.5063	0.16856	0.2264:0.553:0.2205:0.0	rs9912676	194	Q14781-2	.	L	194	.	.	F	+	3	2	CBX2	75370489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.028000	0.13644	0.057000	0.16193	0.455000	0.32223	TTC	C|0.976;G|0.024	0.024	strong		0.592	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		G	77755894	C	G	77755894	1	3	22	0	1	0	0	0	0	0	0	0	2718	854	30	4		4	CBX2	17	77755894	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	673504	77755894	3439316	9079	14187										
CBX2	84733	hgsc.bcm.edu	37	chr17	77757845	77757845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccggccagcaagctgccCcctccactcagcgcccccgt	9	23	1	0	rs8080971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77757845C>T	ENST00000310942.4	+	5	707	c.603C>T	c.(601-603)ccC>ccT	p.P201P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	201					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCAAGCTGCCCCCTCCACTCA	0.701													C|||	291	0.058107	0.2005	0.0274	5008	,	,		14296	0.0		0.007	False		,,,				2504	0.0				p.P201P		Atlas-SNP	.											.	CBX2	50	.	0			c.C603T						PASS	.	C		735,3657		66,603,1527	19	26	23		603	-3.6	0.9	17	dbSNP_116	23	27,8559		0,27,4266	no	coding-synonymous	CBX2	NM_005189.2		66,630,5793	TT,TC,CC		0.3145,16.735,5.8715		201/533	77757845	762,12216	2196	4293	6489	SO:0001819	synonymous_variant	84733	exon5			GCTGCCCCCTCCA	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.603C>T	17.37:g.77757845C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	49	0.720588	NM_005189	Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	CCDS32757.1																																																																																			C|0.948;T|0.052	0.052	strong		0.701	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		T	77757845	C	T	77757845	2	4	22	1	0	0	0	0	0	0	0	1	2718	610	22	2		2	CBX2	17	77757845	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1951	77757845	3437365	9080	14188										
CBX2	84733	hgsc.bcm.edu	37	chr17	77758597	77758597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccggagaagcccgcaaggCggccacactgccagagatga	13	15	0	3	rs76915888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77758597C>T	ENST00000310942.4	+	5	1459	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	452					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCGCAAGGCGGCCACACTG	0.687													C|||	256	0.0511182	0.1762	0.0259	5008	,	,		15513	0.0		0.005	False		,,,				2504	0.0				p.A452V		Atlas-SNP	.											.	CBX2	50	.	0			c.C1355T						PASS	.	C	VAL/ALA	644,3744		43,558,1593	17	18	18		1355	4.2	0	17	dbSNP_131	18	30,8560		0,30,4265	yes	missense	CBX2	NM_005189.2	64	43,588,5858	TT,TC,CC		0.3492,14.6764,5.1934	benign	452/533	77758597	674,12304	2194	4295	6489	SO:0001583	missense	84733	exon5			GCAAGGCGGCCAC	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1355C>T	17.37:g.77758597C>T	ENSP00000308750:p.Ala452Val	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_005189	Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	CCDS32757.1	82	0.037545787545787544	71	0.1443089430894309	10	0.027624309392265192	0	0.0	1	0.0013192612137203166	C	5.157	0.214476	0.09810	0.146764	0.003492	ENSG00000173894	ENST00000310942	.	.	.	5.18	4.21	0.49690	.	0.780131	0.11562	N	0.551633	T	0.00109	0.0003	N	0.14661	0.345	0.42207	P	0.008209000000000022	P	0.37997	0.614	B	0.22152	0.038	T	0.09400	-1.0676	8	0.17832	T	0.49	-0.004	12.1569	0.54083	0.0:0.9206:0.0:0.0794	.	452	Q14781	CBX2_HUMAN	V	452	.	ENSP00000308750:A452V	A	+	2	0	CBX2	75373192	0.001000	0.12720	0.009000	0.14445	0.013000	0.08279	1.442000	0.35046	1.191000	0.43056	0.650000	0.86243	GCG	C|0.942;T|0.058	0.058	strong		0.687	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		T	77758597	C	T	77758597	3	4	22	1	0	0	0	0	1	0	0	0	2718	768	27	1	1721	1	CBX2	17	77758597	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	752	77758597	3436613	9081	14189										
CBX8	57332	hgsc.bcm.edu	37	chr17	77768654	77768654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcccggtacaggccccccCcagagctgggggggcctgag	16	15	0	2	rs4889891|rs113547221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77768654C>A	ENST00000269385.4	-	5	1067	c.950G>T	c.(949-951)gGg>gTg	p.G317V	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	317			G -> V (in dbSNP:rs4889891). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.		histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGGCCCCCCCCAGAGCTGGG	0.682													A|||	3052	0.609425	0.8411	0.6902	5008	,	,		13737	0.4097		0.4702	False		,,,				2504	0.5879				p.G317V		Atlas-SNP	.											CBX8,colon,carcinoma,-1,3	CBX8	42	3	0			c.G950T						PASS	.	A	VAL/GLY	3348,972		1301,746,113	11	14	13		950	3.4	0.2	17	dbSNP_111	13	4278,4180		1125,2028,1076	yes	missense	CBX8	NM_020649.2	109	2426,2774,1189	AA,AC,CC		49.4207,22.5,40.3193	benign	317/390	77768654	7626,5152	2160	4229	6389	SO:0001583	missense	57332	exon5			CCCCCCCCAGAGC	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.950G>T	17.37:g.77768654C>A	ENSP00000269385:p.Gly317Val	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	47	29	0.617021	NM_020649	Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	CCDS11765.1	1206	0.5521978021978022	390	0.7926829268292683	249	0.6878453038674033	204	0.35664335664335667	363	0.4788918205804749	a	0.003	-2.575191	0.00131	0.775	0.505793	ENSG00000141570	ENST00000269385	T	0.39406	1.08	4.47	3.36	0.38483	.	2.413210	0.01433	N	0.014826	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48514	-0.9029	9	0.28530	T	0.3	-2.0212	10.8184	0.46591	0.6985:0.3015:0.0:0.0	rs4889891;rs17855399;rs17858507;rs61324260;rs4889891	317	Q9HC52	CBX8_HUMAN	V	317	ENSP00000269385:G317V	ENSP00000269385:G317V	G	-	2	0	CBX8	75383249	0.000000	0.05858	0.182000	0.23118	0.361000	0.29550	0.443000	0.21644	0.317000	0.23160	-0.383000	0.06682	GGG	C|0.433;A|0.567	0.567	strong		0.682	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		A	77768654	C	A	77768654	3	1	22	1	0	0	0	0	1	0	0	0	2724	624	22	4	198	4	CBX8	17	77768654	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10057	77768654	3426556	9082	14190										
TBC1D16	125058	hgsc.bcm.edu	37	chr17	77984168	77984168	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggtgacatcctgcggactGaccgtcgacaagatcccgga	12	13	0	3	rs35393459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:77984168G>A	ENST00000310924.2	-	3	685	c.570C>T	c.(568-570)gtC>gtT	p.V190V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	190							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCTGCGGACTGACCGTCGACA	0.687													G|||	141	0.028155	0.0983	0.0159	5008	,	,		16011	0.0		0.0	False		,,,				2504	0.0				p.V190V	Ovarian(14;397 562 4850 31922 49378)	Atlas-SNP	.											.	TBC1D16	48	.	0			c.C570T						PASS	.	G		397,4003	178.3+/-207.1	23,351,1826	29	33	31		570	3.5	0.1	17	dbSNP_126	31	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous	TBC1D16	NM_019020.2		23,354,6119	AA,AG,GG		0.0349,9.0227,3.0788		190/768	77984168	400,12592	2200	4296	6496	SO:0001819	synonymous_variant	125058	exon3			CGGACTGACCGTC	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.570C>T	17.37:g.77984168G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	112	64	0.571429	NM_019020	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	CCDS11766.1																																																																																			G|0.967;A|0.033	0.033	strong		0.687	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		A	77984168	G	A	77984168	2	1	22	1	0	0	0	0	0	0	0	1	15602	1277	45	2		2	TBC1D16	17	77984168	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	215514	77984168	3211042	9083	14191										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78014024	78014024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacggagtcttaggcccgtcGgagcaaatgggccaggtcac	14	12	2	0	rs2885349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78014024G>A	ENST00000397545.4	+	3	534	c.507G>A	c.(505-507)tcG>tcA	p.S169S	CCDC40_ENST00000269318.5_Silent_p.S169S|CCDC40_ENST00000374876.4_Silent_p.S169S|CCDC40_ENST00000374877.3_Silent_p.S169S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	169					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAGGCCCGTCGGAGCAAATGG	0.612													G|||	316	0.063099	0.1884	0.0173	5008	,	,		14983	0.001		0.004	False		,,,				2504	0.0511				p.S169S		Atlas-SNP	.											CCDC40_ENST00000374877,rectum,carcinoma,+1,2	CCDC40	198	2	0			c.G507A						PASS	.	G		614,3338		46,522,1408	30	34	33		507	-1.7	0	17	dbSNP_101	33	14,8316		0,14,4151	no	coding-synonymous	CCDC40	NM_017950.3		46,536,5559	AA,AG,GG		0.1681,15.5364,5.1132		169/1143	78014024	628,11654	1976	4165	6141	SO:0001819	synonymous_variant	55036	exon3			CCCGTCGGAGCAA	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.507G>A	17.37:g.78014024G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																			G|0.968;A|0.032	0.032	strong		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		A	78014024	G	A	78014024	2	1	22	1	0	0	0	0	0	0	0	1	2812	1103	39	1		1	CCDC40	17	78014024	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29856	78014024	3181186	9084	14192										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78032677	78032677	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctgtatgtggaccagctCaccactcgagcccagcaact	9	15	1	0	rs61734950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78032677C>T	ENST00000397545.4	+	9	1365	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Silent_p.L446L|CCDC40_ENST00000374877.3_Silent_p.L446L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	446					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGACCAGCTCACCACTCGAG	0.562													C|||	292	0.0583067	0.1694	0.0159	5008	,	,		18404	0.0		0.001	False		,,,				2504	0.0573				p.L446L		Atlas-SNP	.											.	CCDC40	198	.	0			c.C1338T						PASS	.	C		578,3600		37,504,1548	87	91	90		1338	-3.2	0.8	17	dbSNP_129	90	3,8431		0,3,4214	no	coding-synonymous	CCDC40	NM_017950.3		37,507,5762	TT,TC,CC		0.0356,13.8344,4.6067		446/1143	78032677	581,12031	2089	4217	6306	SO:0001819	synonymous_variant	55036	exon9			CCAGCTCACCACT	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1338C>T	17.37:g.78032677C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	103	60	0.582524	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																			C|0.972;T|0.028	0.028	strong		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78032677	C	T	78032677	2	4	22	1	0	0	0	0	0	0	0	1	2812	813	29	2		2	CCDC40	17	78032677	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18653	78032677	3162533	9085	14193										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78069129	78069129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggagttggcggttgcccGcagagagaccgtcaccaccc	13	14	1	2	rs61686936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78069129G>T	ENST00000397545.4	+	18	2927	c.2900G>T	c.(2899-2901)cGc>cTc	p.R967L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	967					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGGTTGCCCGCAGAGAGACC	0.667													G|||	137	0.0273562	0.0991	0.0072	5008	,	,		16509	0.0		0.001	False		,,,				2504	0.0				p.R967L		Atlas-SNP	.											CCDC40,colon,carcinoma,0,1	CCDC40	198	1	0			c.G2900T						PASS	.	G	LEU/ARG	367,3957		14,339,1809	54	66	62		2900	-0.6	1	17	dbSNP_129	62	2,8516		0,2,4257	yes	missense	CCDC40	NM_017950.3	102	14,341,6066	TT,TG,GG		0.0235,8.4875,2.8734	possibly-damaging	967/1143	78069129	369,12473	2162	4259	6421	SO:0001583	missense	55036	exon18			TTGCCCGCAGAGA	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2900G>T	17.37:g.78069129G>T	ENSP00000380679:p.Arg967Leu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	250	126	0.504	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	60	0.027472527472527472	58	0.11788617886178862	2	0.0055248618784530384	0	0.0	0	0.0	G	11.65	1.700481	0.30142	0.084875	2.35E-4	ENSG00000141519	ENST00000397545	T	0.57436	0.4	5.38	-0.582	0.11709	.	.	.	.	.	T	0.00666	0.0022	L	0.57536	1.79	0.09310	P	0.9999999999999583	P;B	0.40619	0.724;0.397	B;B	0.36289	0.202;0.221	T	0.06534	-1.0821	8	0.48119	T	0.1	-13.7927	6.9297	0.24434	0.3554:0.0:0.5288:0.1159	rs61686936;rs61749048	967;750	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	L	967	ENSP00000380679:R967L	ENSP00000380679:R967L	R	+	2	0	CCDC40	75683724	0.797000	0.28877	0.997000	0.53966	0.125000	0.20455	0.916000	0.28651	0.263000	0.21812	0.563000	0.77884	CGC	A|0.000;G|0.981;T|0.019	0.019	strong		0.667	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78069129	G	T	78069129	3	4	22	1	0	0	0	0	1	0	0	0	2812	1087	38	4	2970	4	CCDC40	17	78069129	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36452	78069129	3126081	9086	14194										
GAA	2548	hgsc.bcm.edu	37	chr17	78092081	78092081	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaggcccgaggggagctGttctgggacgatggagagag	22	6	1	1	rs17853996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78092081G>T	ENST00000302262.3	+	18	2790	c.2571G>T	c.(2569-2571)ctG>ctT	p.L857L	GAA_ENST00000390015.3_Silent_p.L857L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	857					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GAGGGGAGCTGTTCTGGGACG	0.657													G|||	11	0.00219649	0.0083	0.0	5008	,	,		17228	0.0		0.0	False		,,,				2504	0.0				p.L857L		Atlas-SNP	.											.	GAA	66	.	0			c.G2571T						PASS	.	G	,,	48,4358	50.2+/-85.5	0,48,2155	65	74	71		2571,2571,2571	-1.4	1	17	dbSNP_123	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,48,6455	TT,TG,GG		0.0,1.0894,0.3691	,,	857/953,857/953,857/953	78092081	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	2548	exon19			GGAGCTGTTCTGG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2571G>T	17.37:g.78092081G>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	134	67	0.5	NM_001079803	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																			G|0.997;T|0.003	0.003	strong		0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78092081	G	T	78092081	2	4	22	1	0	0	0	0	0	0	0	1	6147	1364	48	4		4	GAA	17	78092081	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22952	78092081	3103129	9087	14195										
CARD14	79092	hgsc.bcm.edu	37	chr17	78176193	78176193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatgaaggatactgccgcGcacggcaccatccccaacta	8	16	0	1	rs35692270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78176193G>A	ENST00000573882.1	+	17	2729	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000570421.1_Silent_p.A731A|CARD14_ENST00000344227.2_Silent_p.A731A|CARD14_ENST00000392434.2_3'UTR|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	731					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ATACTGCCGCGCACGGCACCA	0.632													G|||	32	0.00638978	0.0227	0.0029	5008	,	,		17093	0.0		0.0	False		,,,				2504	0.0				p.A731A		Atlas-SNP	.											.	CARD14	98	.	0			c.G2193A						PASS	.	G		115,4291	88.2+/-126.9	2,111,2090	51	41	44		2193	-4	0	17	dbSNP_126	44	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CARD14	NM_024110.3		2,114,6387	AA,AG,GG		0.0349,2.6101,0.9073		731/1005	78176193	118,12888	2203	4300	6503	SO:0001819	synonymous_variant	79092	exon15			TGCCGCGCACGGC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2193G>A	17.37:g.78176193G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_024110	B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	CCDS11768.1																																																																																			G|0.992;A|0.008	0.008	strong		0.632	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78176193	G	A	78176193	2	1	22	1	0	0	0	0	0	0	0	1	2646	1074	38	1		1	CARD14	17	78176193	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	84112	78176193	3019017	9088	14196										
CARD14	79092	hgsc.bcm.edu	37	chr17	78177668	78177668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggacatgactcagcagtGcaccgtgacccgcaaggtga	12	13	1	3	rs34822755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78177668G>A	ENST00000573882.1	+	18	2803	c.2267G>A	c.(2266-2268)tGc>tAc	p.C756Y	RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000392434.2_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.C756Y			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	756					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACTCAGCAGTGCACCGTGACC	0.672													G|||	38	0.00758786	0.0272	0.0029	5008	,	,		16016	0.0		0.0	False		,,,				2504	0.0				p.C756Y		Atlas-SNP	.											.	CARD14	98	.	0			c.G2267A						PASS	.	G	TYR/CYS	127,4273		2,123,2075	27	24	25		2267	3.1	0.2	17	dbSNP_126	25	4,8592		0,4,4294	yes	missense	CARD14	NM_024110.3	194	2,127,6369	AA,AG,GG		0.0465,2.8864,1.008	benign	756/1005	78177668	131,12865	2200	4298	6498	SO:0001583	missense	79092	exon16			AGCAGTGCACCGT	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2267G>A	17.37:g.78177668G>A	ENSP00000458715:p.Cys756Tyr	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	283	139	0.491166	NM_024110	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	7.289	0.610773	0.14066	0.028864	4.65E-4	ENSG00000141527	ENST00000344227	T	0.05258	3.47	4.12	3.12	0.35913	.	0.712962	0.13426	N	0.388808	T	0.01320	0.0043	N	0.14661	0.345	0.33297	D	0.5643	B	0.15141	0.012	B	0.18871	0.023	T	0.17837	-1.0356	10	0.59425	D	0.04	-4.1501	6.7425	0.23443	0.1003:0.1828:0.7169:0.0	rs34822755	756	Q9BXL6	CAR14_HUMAN	Y	756	ENSP00000344549:C756Y	ENSP00000344549:C756Y	C	+	2	0	CARD14	75792263	0.870000	0.30015	0.159000	0.22649	0.311000	0.27955	1.320000	0.33666	0.706000	0.31912	0.485000	0.47835	TGC	G|0.991;A|0.009	0.009	strong		0.672	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78177668	G	A	78177668	3	1	22	1	0	0	0	0	1	0	0	0	2646	1319	46	2	2490	2	CARD14	17	78177668	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1475	78177668	3017542	9089	14197										
SLC26A11	284129	hgsc.bcm.edu	37	chr17	78199666	78199666	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactacagaacatccccaggCcgttcttcctgcaggtgtac	9	14	1	1	rs115961261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78199666C>G	ENST00000361193.3	+	6	824	c.544C>G	c.(544-546)Ccg>Gcg	p.P182A	SLC26A11_ENST00000572725.1_Missense_Mutation_p.P182A|SLC26A11_ENST00000411502.3_Missense_Mutation_p.P182A|SLC26A11_ENST00000546047.2_Missense_Mutation_p.P182A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCCCCAGGCCGTTCTTCCT	0.562													C|||	44	0.00878594	0.0333	0.0	5008	,	,		16297	0.0		0.0	False		,,,				2504	0.0				p.P182A		Atlas-SNP	.											SLC26A11,NS,carcinoma,-1,2	SLC26A11	60	2	0			c.C544G						PASS	.	C	ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO	141,4265	101.6+/-140.2	5,131,2067	200	158	173		544,544,544,544	4.1	1	17	dbSNP_132	173	0,8600		0,0,4300	yes	missense,missense,missense,missense	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	27,27,27,27	5,131,6367	GG,GC,CC		0.0,3.2002,1.0841	benign,benign,benign,benign	182/607,182/607,182/607,182/607	78199666	141,12865	2203	4300	6503	SO:0001583	missense	284129	exon6			CCCAGGCCGTTCT		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.544C>G	17.37:g.78199666C>G	ENSP00000355384:p.Pro182Ala	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	131	65	0.496183	NM_173626		Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	9.192	1.026307	0.19512	0.032002	0.0	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92647	-3.08;-3.08;-3.08	4.09	4.09	0.47781	Sulphate transporter (1);	0.424346	0.25997	N	0.026961	T	0.70413	0.3221	N	0.25286	0.73	0.24628	N	0.993634	B	0.22080	0.064	B	0.27170	0.077	T	0.66015	-0.6028	10	0.20519	T	0.43	-11.6618	12.7028	0.57043	0.0:0.8328:0.1672:0.0	.	182	Q86WA9	S2611_HUMAN	A	182	ENSP00000403998:P182A;ENSP00000440724:P182A;ENSP00000355384:P182A	ENSP00000355384:P182A	P	+	1	0	SLC26A11	75814261	0.998000	0.40836	0.970000	0.41538	0.955000	0.61496	3.003000	0.49505	1.811000	0.52892	0.467000	0.42956	CCG	C|0.990;G|0.010	0.010	strong		0.562	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			G	78199666	C	G	78199666	3	3	22	1	0	0	0	0	1	0	0	0	14516	739	26	4	558	4	SLC26A11	17	78199666	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21998	78199666	2995544	9090	14198										
SLC26A11	284129	hgsc.bcm.edu	37	chr17	78201686	78201686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagctgatgcgggaccaCgtgcctcccgtccaccccga	11	17	0	2	rs61011315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78201686C>T	ENST00000361193.3	+	7	943	c.663C>T	c.(661-663)caC>caT	p.H221H	SLC26A11_ENST00000572725.1_Silent_p.H221H|SLC26A11_ENST00000411502.3_Silent_p.H221H|SLC26A11_ENST00000546047.2_Silent_p.H221H	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCGGGACCACGTGCCTCCCG	0.667													C|||	260	0.0519169	0.1808	0.0115	5008	,	,		13801	0.0		0.0109	False		,,,				2504	0.002				p.H221H		Atlas-SNP	.											.	SLC26A11	60	.	0			c.C663T						PASS	.	C	,,,	718,3688	297.6+/-284.8	61,596,1546	84	67	72		663,663,663,663	-0.2	0.1	17	dbSNP_129	72	113,8487	60.2+/-122.0	2,109,4189	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	,,,	63,705,5735	TT,TC,CC		1.314,16.296,6.3894	,,,	221/607,221/607,221/607,221/607	78201686	831,12175	2203	4300	6503	SO:0001819	synonymous_variant	284129	exon7			GGACCACGTGCCT		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.663C>T	17.37:g.78201686C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	45	23	0.511111	NM_173626		Silent	SNP	ENST00000361193.3	37	CCDS11771.2																																																																																			C|0.944;T|0.056	0.056	strong		0.667	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			T	78201686	C	T	78201686	2	4	22	1	0	0	0	0	0	0	0	1	14516	535	19	1		1	SLC26A11	17	78201686	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2020	78201686	2993524	9091	14199										
RNF213	57674	hgsc.bcm.edu	37	chr17	78261805	78261805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccagccgagccagcccccAggcacagccaccacgccact	10	21	0	0	rs7215243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78261805A>G	ENST00000582970.1	+	4	596	c.453A>G	c.(451-453)ccA>ccG	p.P151P	RNF213_ENST00000508628.2_Silent_p.P200P|RNF213_ENST00000319921.4_Silent_p.P151P|RNF213_ENST00000456466.1_Silent_p.P151P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	151					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCAGCCCCCAGGCACAGCCA	0.692													G|||	1481	0.295727	0.5885	0.1873	5008	,	,		12591	0.131		0.1988	False		,,,				2504	0.2464				p.P151P		Atlas-SNP	.											RNF213_ENST00000456466,NS,carcinoma,0,3	RNF213	766	3	0			c.A453G						PASS	.	G	,	2141,2209		550,1041,584	11	13	12		600,453	-4.2	0	17	dbSNP_116	12	1773,6779		200,1373,2703	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	750,2414,3287	GG,GA,AA		20.732,49.2184,30.3364	,	200/5257,151/1064	78261805	3914,8988	2175	4276	6451	SO:0001819	synonymous_variant	57674	exon4			GCCCCCAGGCACA	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.453A>G	17.37:g.78261805A>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			A|0.731;G|0.269	0.269	strong		0.692	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78261805	A	G	78261805	2	3	22	1	0	0	0	0	0	0	0	1	13477	175	7	3		3	RNF213	17	78261805	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60119	78261805	2933405	9092	14200										
RNF213	57674	hgsc.bcm.edu	37	chr17	78262161	78262161	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggggcctcagcctctaTggtgagtcatccgggagaga	16	10	3	2	rs17857135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78262161T>C	ENST00000582970.1	+	4	952	c.809T>C	c.(808-810)aTg>aCg	p.M270T	RNF213_ENST00000319921.4_Splice_Site_p.M270T|RNF213_ENST00000456466.1_Splice_Site_p.M270T|RNF213_ENST00000508628.2_Splice_Site_p.M319T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	270				M -> T (in Ref. 4; AAH36891/AAH40341). {ECO:0000305}.	ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAGCCTCTATGGTGAGTCAT	0.657													C|||	1059	0.211462	0.4516	0.1153	5008	,	,		16204	0.0655		0.1402	False		,,,				2504	0.1789				p.M270T		Atlas-SNP	.											RNF213_ENST00000456466,NS,carcinoma,0,6	RNF213	766	6	0			c.T809C						PASS	.	C	THR/MET,THR/MET	1594,2772		309,976,898	25	30	28		956,809	-1.3	0	17	dbSNP_123	28	1293,7185		117,1059,3063	yes	missense-near-splice,missense-near-splice	RNF213	NM_020914.4,NM_020954.2	81,81	426,2035,3961	CC,CT,TT		15.2512,36.5094,22.4774	benign,benign	319/5257,270/1064	78262161	2887,9957	2183	4239	6422	SO:0001630	splice_region_variant	57674	exon4			CCTCTATGGTGAG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.810+1T>C	17.37:g.78262161T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	407	0.18635531135531136	212	0.43089430894308944	42	0.11602209944751381	37	0.06468531468531469	116	0.15303430079155672	C	4.576	0.107008	0.08780	0.365094	0.152512	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.40225	1.04;1.04	4.19	-1.33	0.09172	.	2.237800	0.02216	N	0.063634	T	0.00012	0.0000	N	0.08118	0	0.28504	P	0.9138847999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41124	-0.9526	9	0.15952	T	0.53	-2.9558	1.0092	0.01493	0.4316:0.1641:0.244:0.1603	rs17857135;rs17857217;rs56981151	270;270	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	T	270;319;270;270	ENSP00000392123:M270T;ENSP00000324392:M270T	ENSP00000324392:M270T	M	+	2	0	RNF213	75876756	0.000000	0.05858	0.023000	0.16930	0.004000	0.04260	-0.744000	0.04839	-0.415000	0.07484	-0.762000	0.03455	ATG	T|0.785;C|0.215	0.215	strong		0.657	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	Missense_Mutation	C	78262161	T	C	78262161	5	2	22	1	0	0	0	0	0	0	1	0	13477	1478	51	2	970	2	RNF213	17	78262161	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	356	78262161	2933049	9093	14201										
RNF213	57674	hgsc.bcm.edu	37	chr17	78263486	78263486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccaagaccaaggacgagaTggctgctgctgaagaaaaag	13	8	0	4	rs17853989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78263486T>C	ENST00000582970.1	+	6	1105	c.962T>C	c.(961-963)aTg>aCg	p.M321T	RNF213_ENST00000319921.4_Missense_Mutation_p.M321T|RNF213_ENST00000456466.1_Missense_Mutation_p.M321T|RNF213_ENST00000508628.2_Missense_Mutation_p.M370T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	321				M -> T (in Ref. 4; AAH36891/AAH40341). {ECO:0000305}.	ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M321T(1)|p.M370T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGACGAGATGGCTGCTGCT	0.473													t|||	1101	0.219848	0.4531	0.1268	5008	,	,		16968	0.0665		0.165	False		,,,				2504	0.1851				p.M321T		Atlas-SNP	.											RNF213_ENST00000411702,NS,carcinoma,0,2	RNF213	766	2	2	Substitution - Missense(2)	stomach(2)	c.T962C						PASS	.	T	THR/MET,THR/MET	1746,2660	517.3+/-369.4	354,1038,811	60	66	64		1109,962	-8.7	0	17	dbSNP_123	64	1624,6976	299.3+/-304.4	153,1318,2829	yes	missense,missense	RNF213	NM_020914.4,NM_020954.2	81,81	507,2356,3640	CC,CT,TT		18.8837,39.6278,25.9111	benign,benign	370/5257,321/1064	78263486	3370,9636	2203	4300	6503	SO:0001583	missense	57674	exon6			ACGAGATGGCTGC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.962T>C	17.37:g.78263486T>C	ENSP00000464087:p.Met321Thr	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	433	0.19826007326007325	213	0.4329268292682927	45	0.12430939226519337	37	0.06468531468531469	138	0.1820580474934037	t	4.375	0.069242	0.08436	0.396278	0.188837	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.39229	1.09;1.09	4.4	-8.69	0.00855	.	615.921000	0.00166	N	0.000012	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14117	-1.0484	9	0.06891	T	0.86	-2.4186	4.0565	0.09819	0.3513:0.2506:0.0:0.3981	rs17853989;rs17857133	321;321	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	T	321;370;321;321	ENSP00000392123:M321T;ENSP00000324392:M321T	ENSP00000324392:M321T	M	+	2	0	RNF213	75878081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.421000	0.02455	-2.102000	0.00845	-2.512000	0.00187	ATG	T|0.759;C|0.241	0.241	strong		0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78263486	T	C	78263486	3	2	22	1	0	0	0	0	1	0	0	0	13477	1464	51	2	1131	2	RNF213	17	78263486	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1325	78263486	2931724	9094	14202										
RNF213	57674	hgsc.bcm.edu	37	chr17	78263514	78263514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgaagaaaaagtcggtaaGaatgaacaaggggagcctga	14	5	0	5	rs17853713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78263514G>A	ENST00000582970.1	+	6	1133	c.990G>A	c.(988-990)aaG>aaA	p.K330K	RNF213_ENST00000319921.4_Silent_p.K330K|RNF213_ENST00000456466.1_Silent_p.K330K|RNF213_ENST00000508628.2_Silent_p.K379K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	330					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K379K(1)|p.K330K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGTCGGTAAGAATGAACAAG	0.517													A|||	1103	0.220248	0.4508	0.1254	5008	,	,		16476	0.0665		0.165	False		,,,				2504	0.1912				p.K330K		Atlas-SNP	.											RNF213_ENST00000411702,NS,carcinoma,0,2	RNF213	766	2	2	Substitution - coding silent(2)	stomach(2)	c.G990A						scavenged	.	A	,	1740,2666	647.5+/-398.6	351,1038,814	67	71	70		1137,990	-1.2	0	17	dbSNP_123	70	1622,6978	742.2+/-407.2	152,1318,2830	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	503,2356,3644	AA,AG,GG		18.8605,39.4916,25.8496	,	379/5257,330/1064	78263514	3362,9644	2203	4300	6503	SO:0001819	synonymous_variant	57674	exon6			CGGTAAGAATGAA	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.990G>A	17.37:g.78263514G>A		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	94	37	0.393617	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			G|0.760;A|0.240	0.240	strong		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78263514	G	A	78263514	2	1	22	1	0	0	0	0	0	0	0	1	13477	933	33	2		2	RNF213	17	78263514	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28	78263514	2931696	9095	14203										
RNF213	57674	hgsc.bcm.edu	37	chr17	78263634	78263634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtccaggaagtgaaggcAaggtagggatgcccccgcag	16	9	0	1	rs141921176	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78263634A>G	ENST00000582970.1	+	6	1253	c.1110A>G	c.(1108-1110)gcA>gcG	p.A370A	RNF213_ENST00000508628.2_Silent_p.A419A|RNF213_ENST00000319921.4_Silent_p.A370A|RNF213_ENST00000456466.1_Silent_p.A370A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	370					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGTGAAGGCAAGGTAGGGAT	0.567													A|||	17	0.00339457	0.0129	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0				p.A370A		Atlas-SNP	.											.	RNF213	766	.	0			c.A1110G						PASS	.	A	,	61,4345	54.9+/-90.9	0,61,2142	63	66	65		1257,1110	-6.5	0	17	dbSNP_134	65	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	0,63,6440	GG,GA,AA		0.0233,1.3845,0.4844	,	419/5257,370/1064	78263634	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	57674	exon6			GAAGGCAAGGTAG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1110A>G	17.37:g.78263634A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	81	40	0.493827	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			A|0.995;G|0.005	0.005	strong		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78263634	A	G	78263634	2	3	22	1	0	0	0	0	0	0	0	1	13477	117	5	2		2	RNF213	17	78263634	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	120	78263634	2931576	9096	14204										
RNF213	57674	hgsc.bcm.edu	37	chr17	78272294	78272294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggactctccttctcacCgttccgggaacaaatgctag	11	12	2	0	rs72849841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78272294C>T	ENST00000582970.1	+	11	2329	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	RNF213_ENST00000319921.4_Missense_Mutation_p.P729L|RNF213_ENST00000456466.1_Missense_Mutation_p.P729L|RNF213_ENST00000508628.2_Missense_Mutation_p.P778L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	729					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTTCTCACCGTTCCGGGAA	0.572													c|||	570	0.113818	0.1997	0.0692	5008	,	,		17967	0.0149		0.1402	False		,,,				2504	0.1043				p.P729L		Atlas-SNP	.											RNF213_ENST00000456466,colon,carcinoma,-1,3	RNF213	766	3	0			c.C2186T						PASS	.	C	LEU/PRO,LEU/PRO	707,3699	295.6+/-283.7	56,595,1552	82	70	74		2333,2186	2.1	0	17	dbSNP_130	74	1182,7418	239.4+/-270.5	82,1018,3200	yes	missense,missense	RNF213	NM_020914.4,NM_020954.2	98,98	138,1613,4752	TT,TC,CC		13.7442,16.0463,14.5241	benign,benign	778/5257,729/1064	78272294	1889,11117	2203	4300	6503	SO:0001583	missense	57674	exon11			TCTCACCGTTCCG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2186C>T	17.37:g.78272294C>T	ENSP00000464087:p.Pro729Leu	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	144	54	0.375	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	245	0.11217948717948718	112	0.22764227642276422	27	0.07458563535911603	9	0.015734265734265736	97	0.1279683377308707	c	1.845	-0.466542	0.04476	0.160463	0.137442	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.14144	2.53;2.53	4.45	2.14	0.27477	.	0.990181	0.08196	N	0.982985	T	0.00012	0.0000	N	0.08118	0	0.51767	P	6.399999999995298E-5	B;B	0.23806	0.045;0.091	B;B	0.17098	0.017;0.017	T	0.42582	-0.9443	9	0.48119	T	0.1	-14.6717	10.3194	0.43756	0.4867:0.5133:0.0:0.0	.	729;729	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	L	729;778;729;729	ENSP00000392123:P729L;ENSP00000324392:P729L	ENSP00000324392:P729L	P	+	2	0	RNF213	75886889	0.001000	0.12720	0.040000	0.18447	0.004000	0.04260	0.629000	0.24538	0.300000	0.22699	-0.280000	0.10049	CCG	C|0.869;T|0.131	0.131	strong		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78272294	C	T	78272294	3	4	22	1	0	0	0	0	1	0	0	0	13477	652	23	1	2375	1	RNF213	17	78272294	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8660	78272294	2922916	9097	14205										
RNF213	57674	hgsc.bcm.edu	37	chr17	78319380	78319380	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggttccggtgtgggatcccGgttatcatcatgggagaaac	14	9	2	1	rs4890012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78319380G>C	ENST00000582970.1	+	29	7388	c.7245G>C	c.(7243-7245)ccG>ccC	p.P2415P	RNF213_ENST00000508628.2_Silent_p.P2464P|RNF213_ENST00000336301.6_Silent_p.P488P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2415					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGGATCCCGGTTATCATCA	0.527													G|||	2370	0.473243	0.407	0.3948	5008	,	,		22033	0.378		0.668	False		,,,				2504	0.5164				p.P2415P		Atlas-SNP	.											.	RNF213	766	.	0			c.G7245C						PASS	.	G		1946,2460	551.4+/-378.3	452,1042,709	82	80	81		7392	-10.2	0	17	dbSNP_111	81	5500,3100	658.6+/-401.6	1772,1956,572	no	coding-synonymous	RNF213	NM_020914.4		2224,2998,1281	CC,CG,GG		36.0465,44.167,42.7495		2464/5257	78319380	7446,5560	2203	4300	6503	SO:0001819	synonymous_variant	57674	exon29			GATCCCGGTTATC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7245G>C	17.37:g.78319380G>C		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	151	151	1	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			G|0.447;C|0.553	0.553	strong		0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78319380	G	C	78319380	2	2	22	1	0	0	0	0	0	0	0	1	13477	1103	39	4		4	RNF213	17	78319380	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47086	78319380	2875830	9098	14206										
FLJ35220	284131	hgsc.bcm.edu	37	chr17	78395734	78395734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctggtgcagcagctgcGggagaaggagccgggcctca	19	10	1	1	rs34933300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78395734G>A	ENST00000518137.1	+	3	363	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ENDOV_ENST00000520284.1_Intron|MIR4730_ENST00000584535.1_RNA|ENDOV_ENST00000522751.1_Intron|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000518644.1_Missense_Mutation_p.R29Q|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000520367.1_Intron|ENDOV_ENST00000517295.2_Missense_Mutation_p.R29Q|ENDOV_ENST00000323854.5_Intron|ENDOV_ENST00000518901.1_Intron	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	112			R -> Q (in dbSNP:rs34933300). {ECO:0000269|Ref.2}.		DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CAGCAGCTGCGGGAGAAGGAG	0.652								Direct reversal of damage					G|||	620	0.123802	0.0499	0.1729	5008	,	,		17428	0.004		0.2684	False		,,,				2504	0.1636				p.R112Q		Atlas-SNP	.											.	ENDOV	26	.	0			c.G335A						PASS	.	G	,,GLN/ARG	352,3896		14,324,1786	32	37	35		,,335	-3.7	0	17	dbSNP_126	35	2156,6316		302,1552,2382	yes	intron,intron,missense	ENDOV	NM_001164637.1,NM_001164638.1,NM_173627.3	,,43	316,1876,4168	AA,AG,GG		25.4485,8.2863,19.717	,,benign	,,112/283	78395734	2508,10212	2124	4236	6360	SO:0001583	missense	284131	exon3			AGCTGCGGGAGAA		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.335G>A	17.37:g.78395734G>A	ENSP00000429190:p.Arg112Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	47	14	0.297872	NM_173627	I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	CCDS54172.1	307	0.14056776556776557	33	0.06707317073170732	69	0.19060773480662985	0	0.0	205	0.2704485488126649	G	7.998	0.754864	0.15846	0.082863	0.254485	ENSG00000173818	ENST00000518137;ENST00000523228;ENST00000517295	T;T	0.17691	2.26;2.26	4.63	-3.72	0.04411	.	0.635443	0.15397	N	0.264527	T	0.00012	0.0000	N	0.10782	0.045	0.53688	P	2.6999999999999247E-5	B	0.24483	0.104	B	0.19391	0.025	T	0.37314	-0.9711	9	0.06099	T	0.92	-6.2061	11.1273	0.48325	0.4437:0.0:0.5563:0.0	rs34933300	112	Q8N8Q3	ENDOV_HUMAN	Q	112;29;87	ENSP00000429190:R112Q;ENSP00000429603:R29Q	ENSP00000428283:R87Q	R	+	2	0	ENDOV	76010329	0.726000	0.28059	0.005000	0.12908	0.020000	0.10135	-0.103000	0.10940	-1.173000	0.02758	-0.469000	0.05056	CGG	G|0.855;A|0.145	0.145	strong		0.652	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		A	78395734	G	A	78395734	3	1	22	1	0	0	0	0	1	0	0	0	5927	1116	39	1	345	1	FLJ35220	17	78395734	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76354	78395734	2799476	9099	14207										
RPTOR	57521	hgsc.bcm.edu	37	chr17	78896529	78896529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctttgcccctaggccacCgtgaacgcccggccgcagcg	11	18	0	1	rs2271603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78896529C>T	ENST00000306801.3	+	22	2888	c.2526C>T	c.(2524-2526)acC>acT	p.T842T	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.T684T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	842					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTAGGCCACCGTGAACGCCC	0.697													C|||	1229	0.245407	0.1536	0.2911	5008	,	,		15181	0.1964		0.3241	False		,,,				2504	0.3067				p.T842T		Atlas-SNP	.											RPTOR,NS,carcinoma,0,1	RPTOR	122	1	0			c.C2526T						PASS	.	C	,	760,3606		64,632,1487	22	23	23		2052,2526	-9.6	0.4	17	dbSNP_100	23	2767,5805		446,1875,1965	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	510,2507,3452	TT,TC,CC		32.2795,17.4072,27.2608	,	684/1178,842/1336	78896529	3527,9411	2183	4286	6469	SO:0001819	synonymous_variant	57521	exon22			GGCCACCGTGAAC		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2526C>T	17.37:g.78896529C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																			C|0.748;T|0.252	0.252	strong		0.697	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		T	78896529	C	T	78896529	2	4	22	1	0	0	0	0	0	0	0	1	13665	639	23	1		1	RPTOR	17	78896529	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	500795	78896529	2298681	9100	14208										
CHMP6	79643	hgsc.bcm.edu	37	chr17	78972902	78972902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtttcctccacagaaaaCgtccctgtcaaggccaggcc	8	15	2	1	rs35687235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:78972902C>T	ENST00000325167.5	+	8	633	c.555C>T	c.(553-555)aaC>aaT	p.N185N	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	185					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCACAGAAAACGTCCCTGTCA	0.622													C|||	144	0.028754	0.1059	0.0043	5008	,	,		19893	0.0		0.001	False		,,,				2504	0.0				p.N185N		Atlas-SNP	.											.	CHMP6	16	.	0			c.C555T						PASS	.	C		370,4036	187.1+/-213.8	18,334,1851	129	108	115		555	1.3	0.1	17	dbSNP_126	115	0,8600		0,0,4300	no	coding-synonymous	CHMP6	NM_024591.4		18,334,6151	TT,TC,CC		0.0,8.3976,2.8448		185/202	78972902	370,12636	2203	4300	6503	SO:0001819	synonymous_variant	79643	exon8			AGAAAACGTCCCT	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"Charged multivesicular body proteins"	25675	protein-coding gene	gene with protein product		610901	"chromatin modifying protein 6"			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.555C>T	17.37:g.78972902C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	89	52	0.58427	NM_024591	A8K7U0|Q53FU4|Q9HAE8	Silent	SNP	ENST00000325167.5	37	CCDS11774.1																																																																																			C|0.968;T|0.032	0.032	strong		0.622	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		T	78972902	C	T	78972902	2	4	22	1	0	0	0	0	0	0	0	1	3360	535	19	1		1	CHMP6	17	78972902	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	76373	78972902	2222308	9101	14209										
BAIAP2	10458	hgsc.bcm.edu	37	chr17	79089590	79089590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatccctttgcccacgtccAgctgaagccgacagtgacca	9	15	0	2	rs4969391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79089590A>G	ENST00000321300.6	+	14	1649	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	BAIAP2_ENST00000428708.2_Missense_Mutation_p.Q519R|BAIAP2_ENST00000392411.3_Missense_Mutation_p.Q441R|BAIAP2_ENST00000435091.3_3'UTR|BAIAP2_ENST00000575245.1_3'UTR	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	519			Q -> R (in dbSNP:rs4969391).		actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCCACGTCCAGCTGAAGCCG	0.582													A|||	863	0.172324	0.1059	0.3631	5008	,	,		17328	0.1478		0.1561	False		,,,				2504	0.1687				p.Q519R		Atlas-SNP	.											BAIAP2_ENST00000321300,colon,carcinoma,0,1	BAIAP2	74	1	0			c.A1556G						PASS	.	A	ARG/GLN,,ARG/GLN	516,3890	234.6+/-247.4	35,446,1722	90	91	91		1556,,1556	5	1	17	dbSNP_111	91	1330,7270	259.8+/-282.9	98,1134,3068	yes	missense,utr-3,missense	BAIAP2	NM_001144888.1,NM_006340.2,NM_017451.2	43,,43	133,1580,4790	GG,GA,AA		15.4651,11.7113,14.1934	benign,,benign	519/535,,519/553	79089590	1846,11160	2203	4300	6503	SO:0001583	missense	10458	exon14			ACGTCCAGCTGAA	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1556A>G	17.37:g.79089590A>G	ENSP00000316338:p.Gln519Arg	Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	81	81	1	NM_001144888	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	410	0.18772893772893773	84	0.17073170731707318	112	0.30939226519337015	92	0.16083916083916083	122	0.16094986807387862	A	13.79	2.343165	0.41498	0.117113	0.154651	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000392411	T;T;T	0.38560	1.13;1.13;1.13	4.96	4.96	0.65561	.	1.320840	0.04637	N	0.404645	T	0.00012	0.0000	N	0.04508	-0.205	0.43761	P	0.0037289999999999823	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18935	-1.0321	9	0.30854	T	0.27	-1.4439	8.529	0.33321	0.9135:0.0:0.0865:0.0	rs4969391;rs52805958;rs56955834;rs4969391	441;519;519	F8W878;Q9UQB8;Q9UQB8-2	.;BAIP2_HUMAN;.	R	519;519;441	ENSP00000316338:Q519R;ENSP00000401022:Q519R;ENSP00000376211:Q441R	ENSP00000316338:Q519R	Q	+	2	0	BAIAP2	76704185	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.516000	0.60496	1.862000	0.54008	0.379000	0.24179	CAG	A|0.843;G|0.157	0.157	strong		0.582	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79089590	A	G	79089590	3	3	22	1	0	0	0	0	1	0	0	0	1301	188	7	3	1677	3	BAIAP2	17	79089590	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	116688	79089590	2105620	9102	14210										
AATK	9625	hgsc.bcm.edu	37	chr17	79095629	79095629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcagccctcagcgtggcCgcccgcagagacggggtccc	17	16	1	1	rs7503604|rs386799844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79095629C>A	ENST00000326724.4	-	11	2131	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	AATK_ENST00000417379.1_Missense_Mutation_p.G600C	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	703			G -> C (in dbSNP:rs7503604). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9734811}.		brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCAGCGTGGCCGCCCGCAGAG	0.721													A|||	2787	0.55651	0.4463	0.6772	5008	,	,		12566	0.6419		0.4911	False		,,,				2504	0.5992				p.G703C		Atlas-SNP	.											AATK_ENST00000326724,NS,carcinoma,0,2	AATK	102	2	0			c.G2107T						PASS	.	A	CYS/GLY,CYS/GLY	1514,2030		367,780,625	5	7	6		2107,1798	-7.1	0	17	dbSNP_116	6	3740,4026		1007,1726,1150	yes	missense,missense	AATK	NM_001080395.2,NM_004920.2	159,159	1374,2506,1775	AA,AC,CC		48.1586,42.7201,46.4545	benign,benign	703/1375,600/1272	79095629	5254,6056	1772	3883	5655	SO:0001583	missense	9625	exon11			CGTGGCCGCCCGC	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2107G>T	17.37:g.79095629C>A	ENSP00000324196:p.Gly703Cys	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_001080395	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	1170	0.5357142857142857	212	0.43089430894308944	229	0.6325966850828729	346	0.6048951048951049	383	0.5052770448548812	A	9.655	1.142554	0.21205	0.427201	0.481586	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.79247	-1.11;-1.25	3.91	-7.07	0.01563	.	1.777830	0.03483	N	0.215355	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.29882	-0.9997	9	0.38643	T	0.18	.	1.6467	0.02763	0.278:0.4625:0.1:0.1595	rs7503604;rs59349021	703	Q6ZMQ8	LMTK1_HUMAN	C	703;667	ENSP00000324196:G703C;ENSP00000363924:G667C	ENSP00000324196:G703C	G	-	1	0	AATK	76710224	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.384000	0.01063	-1.190000	0.02698	-1.672000	0.00744	GGC	C|0.463;A|0.537	0.537	strong		0.721	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		A	79095629	C	A	79095629	3	1	22	1	0	0	0	0	1	0	0	0	26	652	23	4	2033	4	AATK	17	79095629	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6039	79095629	2099581	9103	14211										
AZI1	22994	hgsc.bcm.edu	37	chr17	79170576	79170576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgcagctgccggctcagCgccttctctgtctccttgac	10	17	3	1	rs1542961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79170576C>T	ENST00000269392.4	-	15	2080	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Silent_p.A608A|AZI1_ENST00000575907.1_Silent_p.A611A|AZI1_ENST00000374782.3_Silent_p.A608A	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		611					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCGGCTCAGCGCCTTCTCTG	0.701													C|||	1108	0.221246	0.2927	0.2622	5008	,	,		12663	0.0149		0.4036	False		,,,				2504	0.1207				p.A608A		Atlas-SNP	.											AZI1_ENST00000450824,NS,carcinoma,0,2	AZI1	145	2	0			c.G1824A						PASS	.	C	,	1300,3068		187,926,1071	23	22	22		1824,1824	0.6	0.1	17	dbSNP_88	22	3373,5197		688,1997,1600	no	coding-synonymous,coding-synonymous	AZI1	NM_001009811.2,NM_014984.2	,	875,2923,2671	TT,TC,CC		39.3582,29.7619,36.1184	,	608/1045,608/1081	79170576	4673,8265	2184	4285	6469	SO:0001819	synonymous_variant	22994	exon15			GCTCAGCGCCTTC																												ENST00000269392.4:c.1833G>A	17.37:g.79170576C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_014984	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																				C|0.699;T|0.301	0.301	strong		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79170576	C	T	79170576	2	4	22	1	0	0	0	0	0	0	0	1	1240	755	27	1		1	AZI1	17	79170576	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	74947	79170576	2024634	9104	14212										
AZI1	22994	hgsc.bcm.edu	37	chr17	79182778	79182778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgtggtgctgttggatctTctaaggttgttgatggcctg	15	6	2	1	rs62075318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79182778T>C	ENST00000269392.4	-	3	469	c.222A>G	c.(220-222)agA>agG	p.R74R	AZI1_ENST00000450824.2_Silent_p.R74R|AZI1_ENST00000575907.1_Silent_p.R74R|AZI1_ENST00000374782.3_Silent_p.R74R	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		74					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGTTGGATCTTCTAAGGTTGT	0.592													T|||	2096	0.41853	0.0227	0.6095	5008	,	,		18179	0.626		0.4443	False		,,,				2504	0.5777				p.R74R		Atlas-SNP	.											AZI1_ENST00000450824,NS,carcinoma,0,4	AZI1	145	4	0			c.A222G						PASS	.	T	,	442,3964	208.8+/-229.8	26,390,1787	79	78	78		222,222	-9.5	0	17	dbSNP_129	78	4061,4539	553.6+/-386.3	971,2119,1210	no	coding-synonymous,coding-synonymous	AZI1	NM_001009811.2,NM_014984.2	,	997,2509,2997	CC,CT,TT		47.2209,10.0318,34.6225	,	74/1045,74/1081	79182778	4503,8503	2203	4300	6503	SO:0001819	synonymous_variant	22994	exon3			GGATCTTCTAAGG																												ENST00000269392.4:c.222A>G	17.37:g.79182778T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	145	83	0.572414	NM_014984	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																				T|0.621;C|0.379	0.379	strong		0.592	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			C	79182778	T	C	79182778	2	2	22	1	0	0	0	0	0	0	0	1	1240	1780	62	2		2	AZI1	17	79182778	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12202	79182778	2012432	9105	14213										
C17orf56	146705	hgsc.bcm.edu	37	chr17	79202956	79202956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgggctgtccgtgcccccTgggatccgttcaggtctcca	12	14	2	0	rs2048057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79202956T>C	ENST00000300714.3	-	12	1407	c.1350A>G	c.(1348-1350)ccA>ccG	p.P450P	AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.P366P|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	450						cytoplasmic vesicle (GO:0031410)											CCGTGCCCCCTGGGATCCGTT	0.692													T|||	2308	0.460863	0.0703	0.6282	5008	,	,		11278	0.6756		0.4682	False		,,,				2504	0.6411				p.P450P		Atlas-SNP	.											C17orf56,colon,carcinoma,0,1	.	.	1	0			c.A1350G						PASS	.	T		605,3801	246.2+/-254.9	51,503,1649	31	30	30		1350	-6.9	0	17	dbSNP_94	30	4124,4476	528.6+/-381.4	1006,2112,1182	no	coding-synonymous	C17orf56	NM_144679.2		1057,2615,2831	CC,CT,TT		47.9535,13.7313,36.3601		450/526	79202956	4729,8277	2203	4300	6503	SO:0001819	synonymous_variant	146705	exon12			GCCCCCTGGGATC	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1350A>G	17.37:g.79202956T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	51	0.53125	NM_144679	Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	CCDS11779.1																																																																																			A|0.000;C|0.395;T|0.605	0.395	strong		0.692	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		C	79202956	T	C	79202956	2	2	22	1	0	0	0	0	0	0	0	1	1864	1567	55	3		3	C17orf56	17	79202956	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20178	79202956	1992254	9106	14214										
SLC38A10	124565	hgsc.bcm.edu	37	chr17	79220224	79220224	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggccatctctcagcttgGcctgggctgcccgaggctct	12	15	4	0	rs2725405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79220224G>C	ENST00000374759.3	-	16	2875	c.2492C>G	c.(2491-2493)gCc>gGc	p.A831G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	831			A -> G (in dbSNP:rs2725405). {ECO:0000269|PubMed:15498874}.		amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTCAGCTTGGCCTGGGCTGC	0.701													G|||	2146	0.428514	0.025	0.4784	5008	,	,		14012	0.7004		0.4374	False		,,,				2504	0.6493				p.A831G		Atlas-SNP	.											.	SLC38A10	133	.	0			c.C2492G						PASS	.	G	GLY/ALA	327,3373		26,275,1549	11	13	13		2492	0.7	0	17	dbSNP_100	13	3573,4591		819,1935,1328	yes	missense	SLC38A10	NM_001037984.1	60	845,2210,2877	CC,CG,GG		43.7653,8.8378,32.8726	benign	831/1120	79220224	3900,7964	1850	4082	5932	SO:0001583	missense	124565	exon16			AGCTTGGCCTGGG	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2492C>G	17.37:g.79220224G>C	ENSP00000363891:p.Ala831Gly	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	51	30	0.588235	NM_001037984	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	946	0.43315018315018317	25	0.0508130081300813	175	0.48342541436464087	410	0.7167832167832168	336	0.44327176781002636	G	12.76	2.033367	0.35893	0.088378	0.437653	ENSG00000157637	ENST00000374759;ENST00000540966	T;T	0.53640	2.93;0.61	3.98	0.68	0.17980	.	4.052290	0.01250	N	0.008853	T	0.00012	0.0000	L	0.43923	1.385	0.80722	P	0.0	P	0.39282	0.666	B	0.33339	0.162	T	0.45411	-0.9263	9	0.37606	T	0.19	-0.9264	5.2532	0.15532	0.1956:0.1672:0.6372:0.0	rs2725405	831	Q9HBR0	S38AA_HUMAN	G	831;217	ENSP00000363891:A831G;ENSP00000437601:A217G	ENSP00000363891:A831G	A	-	2	0	SLC38A10	76834819	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	0.368000	0.20399	0.336000	0.23639	0.467000	0.42956	GCC	G|0.561;C|0.439	0.439	strong		0.701	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		C	79220224	G	C	79220224	3	2	22	1	0	0	0	0	1	0	0	0	14602	1203	42	4	871	4	SLC38A10	17	79220224	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17268	79220224	1974986	9107	14215										
TMEM105	284186	hgsc.bcm.edu	37	chr17	79287477	79287477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctctaatccctgcaccccGgccccacagccccttcatcc	4	24	2	0	rs9916085	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79287477G>A	ENST00000332900.1	-	3	913	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	122			R -> W (in dbSNP:rs9916085).			integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCTGCACCCCGGCCCCACAGC	0.592													G|||	494	0.0986422	0.292	0.0504	5008	,	,		14401	0.0		0.0586	False		,,,				2504	0.0143				p.R122W		Atlas-SNP	.											.	TMEM105	19	.	0			c.C364T						PASS	.	G	TRP/ARG	1170,3234	405.8+/-333.6	157,856,1189	54	58	56		364	0.1	0	17	dbSNP_119	56	421,8179	129.3+/-187.4	17,387,3896	yes	missense	TMEM105	NM_178520.3	101	174,1243,5085	AA,AG,GG		4.8953,26.5668,12.2347	possibly-damaging	122/130	79287477	1591,11413	2202	4300	6502	SO:0001583	missense	284186	exon3			CACCCCGGCCCCA	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.364C>T	17.37:g.79287477G>A	ENSP00000329795:p.Arg122Trp	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	143	65	0.454545	NM_178520		Missense_Mutation	SNP	ENST00000332900.1	37	CCDS11781.1	205	0.09386446886446886	145	0.29471544715447157	13	0.03591160220994475	0	0.0	47	0.06200527704485488	G	9.289	1.050099	0.19827	0.265668	0.048953	ENSG00000185332	ENST00000332900	T	0.56444	0.46	1.16	0.114	0.14639	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.27932	0.194	B	0.09377	0.004	T	0.25433	-1.0132	8	0.87932	D	0	.	3.2835	0.06924	0.306:0.0:0.694:0.0	rs9916085;rs59672127;rs9916085	122	Q8N8V8	TM105_HUMAN	W	122	ENSP00000329795:R122W	ENSP00000329795:R122W	R	-	1	2	TMEM105	76902072	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.069000	0.11542	0.047000	0.15862	0.436000	0.28706	CGG	G|0.882;A|0.118	0.118	strong		0.592	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		A	79287477	G	A	79287477	3	1	22	1	0	0	0	0	1	0	0	0	16016	1115	39	1	29	1	TMEM105	17	79287477	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67253	79287477	1907733	9108	14216										
FSCN2	25794	hgsc.bcm.edu	37	chr17	79495890	79495890	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccgcacggccgcttcttCggaggcaccgaggaccagct	14	15	1	0	rs117946784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79495890C>T	ENST00000417245.2	+	1	469	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Silent_p.F111F|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	111					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCCGCTTCTTCGGAGGCACCG	0.711													C|||	51	0.0101837	0.0023	0.0173	5008	,	,		15165	0.0		0.0209	False		,,,				2504	0.0153				p.F111F		Atlas-SNP	.											.	FSCN2	35	.	0			c.C333T						PASS	.	C	,	16,4090		0,16,2037	5	6	6		333,333	-1.7	0.9	17	dbSNP_132	6	130,8106		0,130,3988	no	coding-synonymous,coding-synonymous	FSCN2	NM_001077182.2,NM_012418.3	,	0,146,6025	TT,TC,CC		1.5784,0.3897,1.183	,	111/517,111/493	79495890	146,12196	2053	4118	6171	SO:0001819	synonymous_variant	25794	exon1			CTTCTTCGGAGGC	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.333C>T	17.37:g.79495890C>T		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	10	5	0.5	NM_001077182	A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	CCDS45811.1																																																																																			C|0.990;T|0.010	0.010	strong		0.711	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79495890	C	T	79495890	2	4	22	1	0	0	0	0	0	0	0	1	6068	883	31	1		1	FSCN2	17	79495890	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	208413	79495890	1699320	9109	14217										
ASPSCR1	79058	hgsc.bcm.edu	37	chr17	79943475	79943475	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcttctcagccattttccAcagatcaggtgagcatcagt	9	11	3	2	rs4796860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79943475A>G	ENST00000306739.4	+	4	463	c.366A>G	c.(364-366)ccA>ccG	p.P122P	ASPSCR1_ENST00000306729.7_Silent_p.P122P|ASPSCR1_ENST00000580534.1_Silent_p.P45P|ASPSCR1_ENST00000581647.1_Silent_p.P122P	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	122					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCATTTTCCACAGATCAGGT	0.582			T	TFE3	alveolar soft part sarcoma								A|||	55	0.0109824	0.0401	0.0029	5008	,	,		19456	0.0		0.0	False		,,,				2504	0.0				p.P122P		Atlas-SNP	.		Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	.	ASPSCR1	27	.	0			c.A366G						PASS	.	A		235,4171	136.9+/-172.8	5,225,1973	77	68	71		366	1.8	1	17	dbSNP_111	71	0,8600		0,0,4300	yes	coding-synonymous	ASPSCR1	NM_024083.2		5,225,6273	GG,GA,AA		0.0,5.3336,1.8069		122/554	79943475	235,12771	2203	4300	6503	SO:0001819	synonymous_variant	79058	exon4			TTTTCCACAGATC	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.366A>G	17.37:g.79943475A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	178	82	0.460674	NM_001251888	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	CCDS11796.1																																																																																			A|0.983;G|0.017	0.017	strong		0.582	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		G	79943475	A	G	79943475	2	3	22	1	0	0	0	0	0	0	0	1	1059	146	6	2		2	ASPSCR1	17	79943475	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	447585	79943475	1251735	9110	14218										
DCXR	51181	hgsc.bcm.edu	37	chr17	79994600	79994600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacagggcagctcacctgCgacacctggatgaccgcacg	11	17	1	1	rs61739740|rs9780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:79994600C>T	ENST00000306869.2	-	4	394	c.345G>A	c.(343-345)tcG>tcA	p.S115S	RP13-650J16.1_ENST00000582558.1_RNA|DCXR_ENST00000584318.1_5'UTR|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	115					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGCTCACCTGCGACACCTGGA	0.607													T|||	1080	0.215655	0.6256	0.0908	5008	,	,		16475	0.0704		0.1014	False		,,,				2504	0.0174				p.S115S		Atlas-SNP	.											.	DCXR	10	.	0			c.G345A						PASS	.	T	,	2472,1934	549.6+/-377.8	696,1080,427	73	71	71		339,345	-9	0.2	17	dbSNP_129	71	1016,7584	771.5+/-407.7	63,890,3347	no	coding-synonymous,coding-synonymous	DCXR	NM_001195218.1,NM_016286.3	,	759,1970,3774	TT,TC,CC		11.814,43.8947,26.8184	,	113/243,115/245	79994600	3488,9518	2203	4300	6503	SO:0001819	synonymous_variant	51181	exon4			CACCTGCGACACC	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 20C, member 1"	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.345G>A	17.37:g.79994600C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_016286	Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	CCDS11799.1																																																																																			C|0.760;T|0.240	0.240	strong		0.607	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			T	79994600	C	T	79994600	2	4	22	1	0	0	0	0	0	0	0	1	4319	755	27	1		1	DCXR	17	79994600	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51125	79994600	1200610	9111	14219										
FASN	2194	hgsc.bcm.edu	37	chr17	80039481	80039481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgggagtgctcacccagGatgtgtgccacggcctccac	12	14	1	0	rs1140616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80039481G>A	ENST00000306749.2	-	37	6620	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2134	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCTCACCCAGGATGTGTGCCA	0.642													.|||	1522	0.303914	0.1823	0.2867	5008	,	,		14395	0.2996		0.4791	False		,,,				2504	0.3047				p.I2134I	Colon(59;314 1043 11189 28578 32273)	Atlas-SNP	.											.	FASN	154	.	0			c.C6402T						PASS	.	G		990,3412	353.1+/-312.0	108,774,1319	42	41	41		6402	1.7	1	17	dbSNP_86	41	4501,4097	569.4+/-389.2	1196,2109,994	no	coding-synonymous	FASN	NM_004104.4		1304,2883,2313	AA,AG,GG		47.6506,22.4898,42.2385		2134/2512	80039481	5491,7509	2201	4299	6500	SO:0001819	synonymous_variant	2194	exon37			ACCCAGGATGTGT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6402C>T	17.37:g.80039481G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	67	39	0.58209	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			G|0.632;A|0.368	0.368	strong		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80039481	G	A	80039481	2	1	22	1	0	0	0	0	0	0	0	1	5683	1164	41	2		2	FASN	17	80039481	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44881	80039481	1155729	9112	14220										
SECTM1	6398	hgsc.bcm.edu	37	chr17	80280054	80280054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctatgggtctgcggcatAtggaaacaagggttgggggg	19	6	1	0	rs61738919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80280054A>C	ENST00000269389.3	-	5	1080	c.730T>G	c.(730-732)Tat>Gat	p.Y244D	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	244					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCTGCGGCATATGGAAACAAG	0.657													C|||	241	0.048123	0.1097	0.0562	5008	,	,		16080	0.0		0.0398	False		,,,				2504	0.0174				p.Y244D		Atlas-SNP	.											.	SECTM1	14	.	0			c.T730G						PASS	.	C	ASP/TYR	478,3928	781.3+/-414.5	24,430,1749	64	67	66		730	-0.8	0	17	dbSNP_129	66	414,8186	800.7+/-407.4	12,390,3898	yes	missense	SECTM1	NM_003004.2	160	36,820,5647	CC,CA,AA		4.814,10.8488,6.8584	benign	244/249	80280054	892,12114	2203	4300	6503	SO:0001583	missense	6398	exon5			CGGCATATGGAAA	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.730T>G	17.37:g.80280054A>C	ENSP00000269389:p.Tyr244Asp	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_003004	B2R7H0|O00466	Missense_Mutation	SNP	ENST00000269389.3	37	CCDS11808.1	111	0.050824175824175824	59	0.11991869918699187	20	0.055248618784530384	0	0.0	32	0.04221635883905013	C	0.004	-2.337026	0.00224	0.108488	0.04814	ENSG00000141574	ENST00000269389	.	.	.	0.64	-0.758	0.11049	.	.	.	.	.	T	0.00144	0.0004	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18999	-1.0319	6	0.02654	T	1	.	.	.	.	.	244;244	Q8WVN6;A8K3U3	SCTM1_HUMAN;.	D	244	.	ENSP00000269389:Y244D	Y	-	1	0	SECTM1	77873343	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.176000	0.09811	-1.026000	0.03330	-0.648000	0.03929	TAT	A|0.935;C|0.065	0.065	strong		0.657	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		C	80280054	A	C	80280054	3	2	22	1	0	0	0	0	1	0	0	0	14008	449	16	5	20	5	SECTM1	17	80280054	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	240573	80280054	915156	9113	14221										
SECTM1	6398	hgsc.bcm.edu	37	chr17	80285085	80285085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaagggcctgggaaacgTggccagggaatgccaggggg	18	10	0	0	rs73999869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80285085T>G	ENST00000269389.3	-	2	382	c.32A>C	c.(31-33)cAc>cCc	p.H11P	SECTM1_ENST00000580437.1_Missense_Mutation_p.H11P	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	11					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGGGAAACGTGGCCAGGGAA	0.622													G|||	238	0.047524	0.1097	0.0533	5008	,	,		15772	0.0		0.0398	False		,,,				2504	0.0164				p.H11P		Atlas-SNP	.											.	SECTM1	14	.	0			c.A32C						PASS	.	G	PRO/HIS	391,4009	747.9+/-411.9	24,343,1833	53	43	46		32	-4.2	0	17	dbSNP_130	46	356,8244	778.2+/-407.7	11,334,3955	yes	missense	SECTM1	NM_003004.2	77	35,677,5788	GG,GT,TT		4.1395,8.8864,5.7462	benign	11/249	80285085	747,12253	2200	4300	6500	SO:0001583	missense	6398	exon2			GAAACGTGGCCAG	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.32A>C	17.37:g.80285085T>G	ENSP00000269389:p.His11Pro	Somatic	272	1	0.00367647		WXS	Illumina HiSeq	Phase_I	221	90	0.40724	NM_003004	B2R7H0|O00466	Missense_Mutation	SNP	ENST00000269389.3	37	CCDS11808.1	111	0.050824175824175824	59	0.11991869918699187	20	0.055248618784530384	0	0.0	32	0.04221635883905013	G	2.949	-0.217084	0.06101	0.088864	0.041395	ENSG00000141574	ENST00000269389	.	.	.	2.11	-4.22	0.03800	.	.	.	.	.	T	0.00109	0.0003	N	0.01048	-1.04	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24799	-1.0150	7	0.52906	T	0.07	.	1.072	0.01623	0.4537:0.16:0.2249:0.1615	.	11;11;11	Q53G27;Q8WVN6;A8K3U3	.;SCTM1_HUMAN;.	P	11	.	ENSP00000269389:H11P	H	-	2	0	SECTM1	77878374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.650000	0.00858	-1.735000	0.01353	-0.478000	0.04885	CAC	T|0.943;G|0.057	0.057	strong		0.622	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		G	80285085	T	G	80285085	3	3	22	1	0	0	0	0	1	0	0	0	14008	1696	59	5	730	5	SECTM1	17	80285085	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5031	80285085	910125	9114	14222										
TEX19	400629	hgsc.bcm.edu	37	chr17	80320303	80320303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccaggacagcctgtgcagGggggctctgaggcatggggg	20	10	1	1	rs147220016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80320303G>T	ENST00000333437.4	+	2	587	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	93					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCCTGTGCAGGGGGGCTCTGA	0.652													.|||	10	0.00199681	0.0008	0.0086	5008	,	,		18460	0.0		0.002	False		,,,				2504	0.001				p.G93W		Atlas-SNP	.											.	TEX19	17	.	0			c.G277T						PASS	.	G	TRP/GLY	2,4404	4.2+/-10.8	0,2,2201	39	42	41		277	1.9	0	17	dbSNP_134	41	32,8566	21.0+/-64.5	0,32,4267	yes	missense	TEX19	NM_207459.3	184	0,34,6468	TT,TG,GG		0.3722,0.0454,0.2615	probably-damaging	93/165	80320303	34,12970	2203	4299	6502	SO:0001583	missense	400629	exon2			GTGCAGGGGGGCT	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.277G>T	17.37:g.80320303G>T	ENSP00000331500:p.Gly93Trp	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	74	26	0.351351	NM_207459		Missense_Mutation	SNP	ENST00000333437.4	37	CCDS11809.1	5	0.0022893772893772895	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	G	13.50	2.255828	0.39896	4.54E-4	0.003722	ENSG00000182459	ENST00000333437	.	.	.	3.22	1.94	0.25998	.	.	.	.	.	T	0.39627	0.1085	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.20739	-1.0266	8	0.66056	D	0.02	-41.824	8.5403	0.33388	0.0:0.4168:0.5832:0.0	.	93	Q8NA77	TEX19_HUMAN	W	93	.	ENSP00000331500:G93W	G	+	1	0	TEX19	77913592	0.022000	0.18835	0.005000	0.12908	0.002000	0.02628	0.388000	0.20735	0.628000	0.30357	0.462000	0.41574	GGG	G|0.997;T|0.003	0.003	strong		0.652	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		T	80320303	G	T	80320303	3	4	22	1	0	0	0	0	1	0	0	0	15777	1232	43	4	279	4	TEX19	17	80320303	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35218	80320303	874907	9115	14223										
C17orf101	79701	hgsc.bcm.edu	37	chr17	80364341	80364341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagacagggcccctgagtgCaagtccagaatggatgcctg	13	11	0	3	rs34315006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80364341C>T	ENST00000313056.5	-	5	592	c.441G>A	c.(439-441)ttG>ttA	p.L147L	OGFOD3_ENST00000329197.5_Silent_p.L147L	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	147						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)										CCCCTGAGTGCAAGTCCAGAA	0.532													C|||	8	0.00159744	0.0	0.0072	5008	,	,		18395	0.0		0.002	False		,,,				2504	0.001				p.L147L		Atlas-SNP	.											.	.	.	.	0			c.G441A						PASS	.	C	,	2,4404	4.2+/-10.8	0,2,2201	107	93	98		441,441	3.7	1	17	dbSNP_126	98	34,8566	23.4+/-69.3	0,34,4266	no	coding-synonymous,coding-synonymous	C17orf101	NM_024648.2,NM_175902.4	,	0,36,6467	TT,TC,CC		0.3953,0.0454,0.2768	,	147/320,147/332	80364341	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	79701	exon5			TGAGTGCAAGTCC	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.441G>A	17.37:g.80364341C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_175902	C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																			C|0.997;T|0.003	0.003	strong		0.532	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		T	80364341	C	T	80364341	2	4	22	1	0	0	0	0	0	0	0	1	1848	709	25	2		2	C17orf101	17	80364341	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44038	80364341	830869	9116	14224										
HEXDC	284004	hgsc.bcm.edu	37	chr17	80377690	80377690	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgaaatgtcaggttccacTccatttcagatgagattagt	8	7	2	3	rs1141463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80377690T>G	ENST00000327949.9	+	1	26	c.15T>G	c.(13-15)acT>acG	p.T5T	HEXDC_ENST00000577944.1_Silent_p.T5T|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank|Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000337014.6_Silent_p.T5T			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	5					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGTTCCACTCCATTTCAGA	0.438													G|||	2411	0.48143	0.6589	0.3545	5008	,	,		20581	0.7123		0.333	False		,,,				2504	0.2464				p.T5T		Atlas-SNP	.											.	HEXDC	43	.	0			c.T15G						PASS	.	G		2318,1430		723,872,279	90	91	91		15	-8.1	0	17	dbSNP_86	91	2446,5726		356,1734,1996	no	coding-synonymous	HEXDC	NM_173620.2		1079,2606,2275	GG,GT,TT		29.9315,38.1537,39.9664		5/586	80377690	4764,7156	1874	4086	5960	SO:0001819	synonymous_variant	284004	exon2			TTCCACTCCATTT	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.15T>G	17.37:g.80377690T>G		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	275	124	0.450909	NM_173620	B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37																																																																																				T|0.535;G|0.465	0.465	strong		0.438	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		G	80377690	T	G	80377690	2	3	22	1	0	0	0	0	0	0	0	1	7075	1538	54	5		5	HEXDC	17	80377690	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13349	80377690	817520	9117	14225										
ZNF750	79755	hgsc.bcm.edu	37	chr17	80788465	80788465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaacagcagcagcaggttcTgcagctcgtggtcgaccggg	16	11	1	0	rs12938126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80788465T>C	ENST00000269394.3	-	3	2558	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.A176A|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	575					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGCAGGTTCTGCAGCTCGTG	0.627													T|||	1849	0.369209	0.4017	0.3343	5008	,	,		16310	0.3522		0.4195	False		,,,				2504	0.316				p.A575A		Atlas-SNP	.											.	ZNF750	60	.	0			c.A1725G						PASS	.	T	,	1764,2642	519.9+/-370.1	364,1036,803	56	60	59		,1725	-6.2	0	17	dbSNP_121	59	3532,5068	510.5+/-377.5	715,2102,1483	no	intron,coding-synonymous	TBCD,ZNF750	NM_005993.4,NM_024702.2	,	1079,3138,2286	CC,CT,TT		41.0698,40.0363,40.7197	,	,575/724	80788465	5296,7710	2203	4300	6503	SO:0001819	synonymous_variant	79755	exon3			AGGTTCTGCAGCT	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1725A>G	17.37:g.80788465T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	161	83	0.515528	NM_024702	Q9H899	Silent	SNP	ENST00000269394.3	37	CCDS11819.1																																																																																			T|0.600;C|0.400	0.400	strong		0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		C	80788465	T	C	80788465	2	2	22	1	0	0	0	0	0	0	0	1	18129	1567	55	3		3	ZNF750	17	80788465	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	410775	80788465	406745	9118	14226										
TBCD	6904	hgsc.bcm.edu	37	chr17	80828203	80828203	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctacgtgtgctgggccttCgcgcgtgcctatgagcctca	13	13	1	1	rs36018199	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80828203C>T	ENST00000355528.4	+	14	1552	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	TBCD_ENST00000397466.2_Silent_p.F88F|TBCD_ENST00000539345.2_Silent_p.F474F	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	474					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGGGCCTTCGCGCGTGCCT	0.647													C|||	53	0.0105831	0.0023	0.0101	5008	,	,		19389	0.0		0.0368	False		,,,				2504	0.0061				p.F474F		Atlas-SNP	.											.	TBCD	94	.	0			c.C1422T						PASS	.	C		39,4273		1,37,2118	37	43	41		1422	-6.2	0.6	17	dbSNP_126	41	406,8106		11,384,3861	no	coding-synonymous	TBCD	NM_005993.4		12,421,5979	TT,TC,CC		4.7697,0.9045,3.4701		474/1193	80828203	445,12379	2156	4256	6412	SO:0001819	synonymous_variant	6904	exon14			GGCCTTCGCGCGT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1422C>T	17.37:g.80828203C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	125	53	0.424	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	CCDS45818.1																																																																																			C|0.977;T|0.023	0.023	strong		0.647	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		T	80828203	C	T	80828203	2	4	22	1	0	0	0	0	0	0	0	1	15630	883	31	1		1	TBCD	17	80828203	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39738	80828203	367007	9119	14227										
TBCD	6904	hgsc.bcm.edu	37	chr17	80887123	80887123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccacgtgccccaccgagGagaactggaaaagctgtttc	10	15	0	1	rs8072406	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80887123G>T	ENST00000355528.4	+	31	2958	c.2828G>T	c.(2827-2829)gGa>gTa	p.G943V	TBCD_ENST00000539345.2_Missense_Mutation_p.G943V	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	943			G -> V (in dbSNP:rs8072406).		'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCCACCGAGGAGAACTGGAA	0.637													G|||	119	0.023762	0.084	0.0101	5008	,	,		19308	0.0		0.001	False		,,,				2504	0.0				p.G943V		Atlas-SNP	.											.	TBCD	94	.	0			c.G2828T						PASS	.	G	VAL/GLY	333,3793		15,303,1745	62	66	65		2828	-10.3	0	17	dbSNP_116	65	2,8418		0,2,4208	yes	missense	TBCD	NM_005993.4	109	15,305,5953	TT,TG,GG		0.0238,8.0708,2.6702	possibly-damaging	943/1193	80887123	335,12211	2063	4210	6273	SO:0001583	missense	6904	exon31			ACCGAGGAGAACT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2828G>T	17.37:g.80887123G>T	ENSP00000347719:p.Gly943Val	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	111	53	0.477477	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	45	0.020604395604395604	42	0.08536585365853659	3	0.008287292817679558	0	0.0	0	0.0	G	8.712	0.912371	0.17907	0.080708	2.38E-4	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.29917	1.55	5.13	-10.3	0.00346	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	1.128570	0.06621	N	0.757363	T	0.00666	0.0022	L	0.40543	1.245	0.09310	N	1	B;B;B	0.32010	0.351;0.238;0.351	B;B;B	0.31101	0.076;0.124;0.108	T	0.02933	-1.1092	9	.	.	.	.	11.0645	0.47968	0.6996:0.1867:0.1137:0.0	rs8072406;rs8072406	694;943;943	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	V	943;694	ENSP00000347719:G943V	.	G	+	2	0	TBCD	78480412	0.019000	0.18553	0.000000	0.03702	0.011000	0.07611	0.131000	0.15870	-2.089000	0.00860	-0.165000	0.13383	GGA	G|0.974;T|0.026	0.026	strong		0.637	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		T	80887123	G	T	80887123	3	4	22	1	0	0	0	0	1	0	0	0	15630	1174	41	4	2950	4	TBCD	17	80887123	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58920	80887123	308087	9120	14228										
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	80923536	80923536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggcccttacctgacctccCtcgttaaaggggcccacgtg	10	16	0	1	rs4986144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:80923536C>T	ENST00000320865.3	-	7	604	c.591G>A	c.(589-591)gaG>gaA	p.E197E	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Silent_p.E86E	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	197							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCTGACCTCCCTCGTTAAAGG	0.612													C|||	1117	0.223043	0.233	0.1974	5008	,	,		16277	0.3214		0.2336	False		,,,				2504	0.1155				p.E197E		Atlas-SNP	.											B3GNTL1,NS,malignant_melanoma,0,2	B3GNTL1	40	2	0			c.G591A						PASS	.	C		1013,3393	349.0+/-310.2	129,755,1319	37	34	35		591	2.8	1	17	dbSNP_111	35	2503,6095	374.9+/-337.6	338,1827,2134	no	coding-synonymous	B3GNTL1	NM_001009905.1		467,2582,3453	TT,TC,CC		29.1114,22.9914,27.0378		197/362	80923536	3516,9488	2203	4299	6502	SO:0001819	synonymous_variant	146712	exon7			ACCTCCCTCGTTA	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.591G>A	17.37:g.80923536C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	56	35	0.625	NM_001009905	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																			C|0.739;T|0.261	0.261	strong		0.612	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		T	80923536	C	T	80923536	2	4	22	1	0	0	0	0	0	0	0	1	1265	680	24	2		2	B3GNTL1	17	80923536	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36413	80923536	271674	9121	14229										
METRNL	284207	hgsc.bcm.edu	37	chr17	81043175	81043175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggttaggaggcacaggGcgtcggacctgcacgagctg	17	10	0	0	rs72854240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr17:81043175G>T	ENST00000320095.7	+	2	657	c.532G>T	c.(532-534)Gcg>Tcg	p.A178S	METRNL_ENST00000571814.1_Missense_Mutation_p.A96S|METRNL_ENST00000570778.1_Missense_Mutation_p.A96S	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	178					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GAGGCACAGGGCGTCGGACCT	0.672													G|||	150	0.0299521	0.003	0.0476	5008	,	,		13564	0.0		0.0954	False		,,,				2504	0.0174				p.A178S		Atlas-SNP	.											METRNL,NS,carcinoma,0,2	METRNL	29	2	0			c.G532T						PASS	.	G	SER/ALA	98,4308	77.3+/-115.6	1,96,2106	49	56	54		532	2.1	0	17	dbSNP_130	54	877,7719	189.3+/-236.1	53,771,3474	yes	missense	METRNL	NM_001004431.1	99	54,867,5580	TT,TG,GG		10.2024,2.2242,7.4988	benign	178/312	81043175	975,12027	2203	4298	6501	SO:0001583	missense	284207	exon2			CACAGGGCGTCGG	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.532G>T	17.37:g.81043175G>T	ENSP00000315731:p.Ala178Ser	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	168	79	0.470238	NM_001004431	B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	CCDS32779.1	105	0.04807692307692308	3	0.006097560975609756	18	0.049723756906077346	0	0.0	84	0.11081794195250659	g	8.856	0.945846	0.18356	0.022242	0.102024	ENSG00000176845	ENST00000320095	.	.	.	4.1	2.1	0.27182	.	1.171190	0.06246	N	0.691200	T	0.00384	0.0012	N	0.16656	0.425	0.09310	N	1	B	0.25904	0.137	B	0.25140	0.058	T	0.19321	-1.0309	8	.	.	.	-9.565	4.4948	0.11831	0.2058:0.1841:0.6101:0.0	.	178	Q641Q3	METRL_HUMAN	S	178	.	.	A	+	1	0	METRNL	78636464	0.043000	0.20138	0.000000	0.03702	0.004000	0.04260	2.535000	0.45685	0.516000	0.28340	-0.260000	0.10688	GCG	G|0.934;T|0.066	0.066	strong		0.672	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		T	81043175	G	T	81043175	3	4	22	1	0	0	0	0	1	0	0	0	9489	1203	42	4	538	4	METRNL	17	81043175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	119639	81043175	152035	9122	14230										
USP14	9097	hgsc.bcm.edu	37	chr18	166819	166819	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaacatcaaaataaaaaaTgtaagtattatcttatgaac	5	4	2	1	rs563155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:166819T>C	ENST00000261601.7	+	3	286	c.195T>C	c.(193-195)aaT>aaC	p.N65N	USP14_ENST00000582707.1_Splice_Site_p.N65N|USP14_ENST00000400266.3_Intron|USP14_ENST00000383589.2_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	65	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AAATAAAAAATGTAAGTATTA	0.294													T|||	774	0.154553	0.174	0.134	5008	,	,		14788	0.006		0.2117	False		,,,				2504	0.2372				p.N65N		Atlas-SNP	.											.	USP14	41	.	0			c.T195C						PASS	.	T	,	779,3627	313.3+/-293.0	67,645,1491	125	131	129		195,195	4.4	1	18	dbSNP_83	129	1914,6686	337.2+/-322.2	223,1468,2609	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	USP14	NM_001037334.1,NM_005151.3	,	290,2113,4100	CC,CT,TT		22.2558,17.6804,20.7058	,	65/460,65/495	166819	2693,10313	2203	4300	6503	SO:0001630	splice_region_variant	9097	exon3			AAAAAATGTAAGT	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.195+1T>C	18.37:g.166819T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	56	26	0.464286	NM_001037334	J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	CCDS32780.1																																																																																			T|0.812;C|0.188	0.188	strong		0.294	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	Silent	C	166819	T	C	166819	5	2	22	1	0	0	0	0	0	0	1	0	17042	1478	51	2	205	2	USP14	18	166819	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10		166819	77910429	9123	14231										
COLEC12	81035	hgsc.bcm.edu	37	chr18	334742	334742	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggagggcttggacttacCattgtcctccggtgctgggg	17	9	0	0	rs17857498|rs2305027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:334742C>T	ENST00000400256.3	-	6	2023	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	606			G -> S (in dbSNP:rs2305027). {ECO:0000269|PubMed:11162630, ECO:0000269|PubMed:12601552, ECO:0000269|PubMed:15489334}.		carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGACTTACCATTGTCCTCC	0.647													C|||	1841	0.367612	0.2572	0.3473	5008	,	,		15417	0.4563		0.493	False		,,,				2504	0.3108				p.G606S		Atlas-SNP	.											.	COLEC12	121	.	0			c.G1816A						PASS	.	C	SER/GLY	1275,3131	425.1+/-340.7	182,911,1110	45	41	42		1816	4.5	1	18	dbSNP_100	42	4264,4336	563.0+/-388.1	1037,2190,1073	yes	missense-near-splice	COLEC12	NM_130386.2	56	1219,3101,2183	TT,TC,CC		49.5814,28.9378,42.588	probably-damaging	606/743	334742	5539,7467	2203	4300	6503	SO:0001630	splice_region_variant	81035	exon6			ACTTACCATTGTC	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1816+1G>A	18.37:g.334742C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	147	53	0.360544	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	888	0.4065934065934066	161	0.32723577235772355	121	0.3342541436464088	237	0.4143356643356643	369	0.4868073878627968	C	16.56	3.156627	0.57259	0.289378	0.495814	ENSG00000158270	ENST00000400256	T	0.16324	2.35	5.39	4.5	0.54988	C-type lectin-like (1);	0.178977	0.50627	D	0.000107	T	0.00012	0.0000	M	0.61703	1.905	0.09310	P	0.999999706947	D	0.89917	1.0	D	0.87578	0.998	T	0.49000	-0.8984	8	.	.	.	-14.835	14.4479	0.67364	0.1484:0.8516:0.0:0.0	rs2305027;rs17450950;rs52830862;rs56583438;rs59614806;rs2305027	606	Q5KU26	COL12_HUMAN	S	606	ENSP00000383115:G606S	.	G	-	1	0	COLEC12	324742	1.000000	0.71417	0.967000	0.41034	0.058000	0.15608	5.137000	0.64789	1.232000	0.43678	0.561000	0.74099	GGC	C|0.591;T|0.409	0.409	strong		0.647	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		Missense_Mutation	T	334742	C	T	334742	5	4	22	1	0	0	0	0	0	0	1	0	3712	608	21	2	432	2	COLEC12	18	334742	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	167923	334742	77742506	9124	14232										
COLEC12	81035	hgsc.bcm.edu	37	chr18	334994	334994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcctgggtccccactggAgccctgagggccgggcttcc	17	15	0	1	rs2305025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:334994A>G	ENST00000400256.3	-	6	1771	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	522	Collagen-like 2.		S -> P (in dbSNP:rs2305025). {ECO:0000269|PubMed:11162630, ECO:0000269|PubMed:11564734, ECO:0000269|PubMed:12601552, ECO:0000269|PubMed:12761161, ECO:0000269|PubMed:15489334}.		carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCCCACTGGAGCCCTGAGGG	0.711													G|||	3131	0.6252	0.615	0.572	5008	,	,		13662	0.7907		0.6103	False		,,,				2504	0.5215				p.S522P		Atlas-SNP	.											COLEC12,NS,carcinoma,0,1	COLEC12	121	1	0			c.T1564C						PASS	.	G	PRO/SER	2658,1608		875,908,350	11	14	13		1564	2.8	0.9	18	dbSNP_100	13	5211,3233		1660,1891,671	no	missense	COLEC12	NM_130386.2	74	2535,2799,1021	GG,GA,AA		38.2875,37.6934,38.0881	benign	522/743	334994	7869,4841	2133	4222	6355	SO:0001583	missense	81035	exon6			CACTGGAGCCCTG	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1564T>C	18.37:g.334994A>G	ENSP00000383115:p.Ser522Pro	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	1408	0.6446886446886447	319	0.6483739837398373	195	0.5386740331491713	430	0.7517482517482518	464	0.6121372031662269	G	0.023	-1.404266	0.01165	0.623066	0.617125	ENSG00000158270	ENST00000400256	D	0.86230	-2.09	5.67	2.81	0.32909	.	0.348368	0.34484	N	0.003939	T	0.00012	0.0000	N	0.00078	-2.235	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48258	-0.9051	9	0.18276	T	0.48	-3.8418	7.4255	0.27096	0.1387:0.2564:0.6049:0.0	rs2305025;rs17857497;rs58564592;rs2305025	522	Q5KU26	COL12_HUMAN	P	522	ENSP00000383115:S522P	ENSP00000383115:S522P	S	-	1	0	COLEC12	324994	0.068000	0.21057	0.897000	0.35233	0.548000	0.35241	0.108000	0.15396	0.041000	0.15688	-0.733000	0.03571	TCC	A|0.363;G|0.637	0.637	strong		0.711	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			G	334994	A	G	334994	3	3	22	1	0	0	0	0	1	0	0	0	3712	304	11	3	684	3	COLEC12	18	334994	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	252	334994	77742254	9125	14233										
CETN1	1068	hgsc.bcm.edu	37	chr18	580623	580623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaggaagagatgaagaaaaTgatctccgaggtggacaggg	16	4	1	4	rs61734344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:580623T>C	ENST00000327228.3	+	1	257	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ATGAAGAAAATGATCTCCGAG	0.552													T|||	900	0.179712	0.2322	0.1239	5008	,	,		17797	0.244		0.1292	False		,,,				2504	0.1339				p.M72T		Atlas-SNP	.											.	CETN1	48	.	0			c.T215C						PASS	.	T	THR/MET	910,3496	350.8+/-311.0	116,678,1409	75	60	65		215	5.2	1	18	dbSNP_129	65	1254,7346	251.8+/-278.1	100,1054,3146	yes	missense	CETN1	NM_004066.1	81	216,1732,4555	CC,CT,TT		14.5814,20.6537,16.6385	probably-damaging	72/173	580623	2164,10842	2203	4300	6503	SO:0001583	missense	1068	exon1			AGAAAATGATCTC	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.215T>C	18.37:g.580623T>C	ENSP00000319052:p.Met72Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	38	38	1	NM_004066	B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	CCDS11820.1	373	0.1707875457875458	129	0.2621951219512195	45	0.12430939226519337	101	0.17657342657342656	98	0.12928759894459102	T	15.06	2.720817	0.48728	0.206537	0.145814	ENSG00000177143	ENST00000327228	T	0.39056	1.1	5.2	5.2	0.72013	EF-hand-like domain (1);	0.045696	0.85682	D	0.000000	T	0.00039	0.0001	M	0.80982	2.52	0.09310	P	0.99999999872817	D	0.55172	0.97	D	0.85130	0.997	T	0.02431	-1.1160	9	0.87932	D	0	.	13.3624	0.60663	0.0:0.0:0.0:1.0	rs61734344	72	Q12798	CETN1_HUMAN	T	72	ENSP00000319052:M72T	ENSP00000319052:M72T	M	+	2	0	CETN1	570623	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	7.846000	0.86887	2.324000	0.78689	0.533000	0.62120	ATG	T|0.833;C|0.167	0.167	strong		0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		C	580623	T	C	580623	3	2	22	1	0	0	0	0	1	0	0	0	3274	1464	51	2	217	2	CETN1	18	580623	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	245629	580623	77496625	9126	14234										
ENOSF1	55556	hgsc.bcm.edu	37	chr18	712568	712568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcccggaccgagagccggGagatcctgccgcgcaccatg	14	16	0	2	rs3786349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:712568G>A	ENST00000251101.7	-	1	108	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ENOSF1_ENST00000580982.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000539164.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000340116.7_5'Flank	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	7					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CGAGAGCCGGGAGATCCTGCC	0.766													G|||	601	0.120008	0.0265	0.0778	5008	,	,		9725	0.2748		0.1412	False		,,,				2504	0.0951				p.S7F		Atlas-SNP	.											.	ENOSF1	44	.	0			c.C20T						PASS	.	G	,PHE/SER	105,3179		1,103,1538	5	5	5		,20	-1.5	0	18	dbSNP_107	5	546,5710		15,516,2597	no	utr-5,missense	ENOSF1	NM_001126123.3,NM_017512.5	,155	16,619,4135	AA,AG,GG		8.7276,3.1973,6.8239	,benign	,7/444	712568	651,8889	1642	3128	4770	SO:0001583	missense	55556	exon1			AGCCGGGAGATCC	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.20C>T	18.37:g.712568G>A	ENSP00000251101:p.Ser7Phe	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	21	16	0.761905	NM_017512	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	329	0.15064102564102563	28	0.056910569105691054	34	0.09392265193370165	161	0.28146853146853146	106	0.13984168865435356	G	10.32	1.318029	0.23994	0.031973	0.087276	ENSG00000132199	ENST00000251101;ENST00000539164	T;T	0.42131	0.98;0.98	4.19	-1.5	0.08691	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.30455	0.28	B	0.25506	0.061	T	0.26018	-1.0115	8	0.42905	T	0.14	.	10.165	0.42875	0.083:0.5405:0.3765:0.0	rs3786349	7	Q7L5Y1	ENOF1_HUMAN	F	7	ENSP00000251101:S7F;ENSP00000446321:S7F	ENSP00000251101:S7F	S	-	2	0	ENOSF1	702568	0.079000	0.21365	0.023000	0.16930	0.684000	0.39900	0.057000	0.14279	-0.433000	0.07286	0.313000	0.20887	TCC	G|0.851;A|0.149	0.149	strong		0.766	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	712568	G	A	712568	3	1	22	1	0	0	0	0	1	0	0	0	5125	1174	41	2	1519	2	ENOSF1	18	712568	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131945	712568	77364680	9127	14235										
METTL4	64863	hgsc.bcm.edu	37	chr18	2554807	2554807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcgcaaaaataaatcctgTtctgtaacagatgtatcctc	5	10	1	1	rs34143130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2554807T>G	ENST00000574538.1	-	4	1465	c.690A>C	c.(688-690)gaA>gaC	p.E230D	snoU109_ENST00000459316.1_RNA|METTL4_ENST00000319888.6_Missense_Mutation_p.E230D	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	230			E -> D (in dbSNP:rs34143130).		nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATAAATCCTGTTCTGTAACAG	0.363													T|||	613	0.122404	0.264	0.0994	5008	,	,		19448	0.1329		0.0457	False		,,,				2504	0.0153				p.E230D		Atlas-SNP	.											.	METTL4	40	.	0			c.A690C						PASS	.	T	ASP/GLU	1019,3387	369.8+/-319.3	116,787,1300	62	56	58		690	1.3	1	18	dbSNP_126	58	380,8220	122.7+/-181.7	11,358,3931	yes	missense	METTL4	NM_022840.3	45	127,1145,5231	GG,GT,TT		4.4186,23.1276,10.7566	benign	230/473	2554807	1399,11607	2203	4300	6503	SO:0001583	missense	64863	exon4			ATCCTGTTCTGTA		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.690A>C	18.37:g.2554807T>G	ENSP00000458290:p.Glu230Asp	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	119	54	0.453782	NM_022840	B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	267	0.12225274725274725	144	0.2926829268292683	25	0.06906077348066299	68	0.11888111888111888	30	0.0395778364116095	T	11.59	1.683554	0.29872	0.231276	0.044186	ENSG00000101574	ENST00000319888	T	0.23754	1.89	5.85	1.29	0.21616	.	0.222920	0.45361	N	0.000376	T	0.00012	0.0000	M	0.68317	2.08	0.35762	P	0.17974100000000004	B;B	0.23990	0.095;0.037	B;B	0.21360	0.034;0.012	T	0.28332	-1.0047	9	0.38643	T	0.18	-14.2895	6.1917	0.20528	0.0:0.4218:0.2324:0.3459	rs34143130	230;230	A8K1T6;Q8N3J2	.;METL4_HUMAN	D	230	ENSP00000320349:E230D	ENSP00000320349:E230D	E	-	3	2	METTL4	2544807	0.991000	0.36638	0.999000	0.59377	0.738000	0.42128	0.141000	0.16076	0.302000	0.22762	-0.242000	0.12053	GAA	T|0.889;G|0.111	0.111	strong		0.363	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		G	2554807	T	G	2554807	3	3	22	1	0	0	0	0	1	0	0	0	9502	1722	60	5	752	5	METTL4	18	2554807	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1842239	2554807	75522441	9128	14236										
METTL4	64863	hgsc.bcm.edu	37	chr18	2554836	2554836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgtatcctcttccaccaAttgtaatgtctgatgttcca	6	10	2	2	rs16943442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2554836A>G	ENST00000574538.1	-	4	1436	c.661T>C	c.(661-663)Ttg>Ctg	p.L221L	METTL4_ENST00000319888.6_Silent_p.L221L|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	221					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCTTCCACCAATTGTAATGTC	0.373													A|||	614	0.122604	0.264	0.0994	5008	,	,		20201	0.1339		0.0457	False		,,,				2504	0.0153				p.L221L		Atlas-SNP	.											.	METTL4	40	.	0			c.T661C						PASS	.	A		1019,3387	375.1+/-321.5	116,787,1300	85	74	78		661	3.4	0	18	dbSNP_123	78	381,8219	124.6+/-183.3	11,359,3930	no	coding-synonymous	METTL4	NM_022840.3		127,1146,5230	GG,GA,AA		4.4302,23.1276,10.7643		221/473	2554836	1400,11606	2203	4300	6503	SO:0001819	synonymous_variant	64863	exon4			CCACCAATTGTAA		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.661T>C	18.37:g.2554836A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	152	68	0.447368	NM_022840	B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	ENST00000574538.1	37	CCDS11826.1																																																																																			A|0.881;G|0.119	0.119	strong		0.373	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		G	2554836	A	G	2554836	2	3	22	1	0	0	0	0	0	0	0	1	9502	98	4	2		2	METTL4	18	2554836	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29	2554836	75522412	9129	14237										
METTL4	64863	hgsc.bcm.edu	37	chr18	2555002	2555002	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttttgagaccttcctggatCaactgtaaagatccatccaa					rs12607882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2555002C>T	ENST00000574538.1	-	4	1270	c.495G>A	c.(493-495)ttG>ttA	p.L165L	snoU109_ENST00000459316.1_RNA|METTL4_ENST00000319888.6_Silent_p.L165L	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	165					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTTCCTGGATCAACTGTAAAG	0.368													T|||	613	0.122404	0.264	0.0994	5008	,	,		19418	0.1329		0.0457	False		,,,				2504	0.0153				p.L165L		Atlas-SNP	.											.	METTL4	40	.	0			c.G495A						PASS	.	T		1003,3403	719.0+/-408.9	116,771,1316	113	132	125		495	3.4	1	18	dbSNP_120	125	375,8225	799.3+/-407.4	10,355,3935	yes	coding-synonymous	METTL4	NM_022840.3		126,1126,5251	TT,TC,CC		4.3605,22.7644,10.5951		165/473	2555002	1378,11628	2203	4300	6503	SO:0001819	synonymous_variant	64863	exon4			CTGGATCAACTGT		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.495G>A	18.37:g.2555002C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_022840	B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	ENST00000574538.1	37	CCDS11826.1																																																																																			C|0.894;T|0.106	0.106	strong		0.368	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		T	2555002	C	T	2555002	2	4	22	1	0	0	0	0	0	0	0	1	9502	825	29	2		2	METTL4	18	2555002	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166	2555002	75522246	9130	14238	293	3								
METTL4	64863	hgsc.bcm.edu	37	chr18	2555005	2555005	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgagaccttcctggatcaaCtgtaaagatccatccaaaat					rs61730027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2555005C>T	ENST00000574538.1	-	4	1267	c.492G>A	c.(490-492)caG>caA	p.Q164Q	METTL4_ENST00000319888.6_Silent_p.Q164Q|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	164					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCTGGATCAACTGTAAAGATC	0.368													c|||	613	0.122404	0.264	0.0994	5008	,	,		19475	0.1329		0.0457	False		,,,				2504	0.0153				p.Q164Q		Atlas-SNP	.											.	METTL4	40	.	0			c.G492A						PASS	.	T		999,3407	350.5+/-310.9	116,767,1320	112	131	125		492	-1.4	0.8	18	dbSNP_129	125	373,8227	118.6+/-178.1	10,353,3937	no	coding-synonymous	METTL4	NM_022840.3		126,1120,5257	TT,TC,CC		4.3372,22.6736,10.549		164/473	2555005	1372,11634	2203	4300	6503	SO:0001819	synonymous_variant	64863	exon4			GATCAACTGTAAA		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.492G>A	18.37:g.2555005C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	40	0.481928	NM_022840	B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	ENST00000574538.1	37	CCDS11826.1																																																																																			C|0.895;T|0.105	0.105	strong		0.368	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		T	2555005	C	T	2555005	2	4	22	1	0	0	0	0	0	0	0	1	9502	564	20	2		2	METTL4	18	2555005	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	2555005	75522243	9131	14239	293	3								
METTL4	64863	hgsc.bcm.edu	37	chr18	2555008	2555008	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaccttcctggatcaactgTaaagatccatccaaaatcag					rs12606220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2555008T>G	ENST00000574538.1	-	4	1264	c.489A>C	c.(487-489)ttA>ttC	p.L163F	METTL4_ENST00000319888.6_Missense_Mutation_p.L163F|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	163			L -> F (in dbSNP:rs12606220).		nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGATCAACTGTAAAGATCCAT	0.363													T|||	614	0.122604	0.264	0.0994	5008	,	,		19543	0.1329		0.0467	False		,,,				2504	0.0153				p.L163F		Atlas-SNP	.											.	METTL4	40	.	0			c.A489C						PASS	.	T	PHE/LEU	999,3407	347.7+/-309.6	116,767,1320	110	130	123		489	-1.1	0.7	18	dbSNP_120	123	371,8229	117.7+/-177.3	9,353,3938	yes	missense	METTL4	NM_022840.3	22	125,1120,5258	GG,GT,TT		4.314,22.6736,10.5336	benign	163/473	2555008	1370,11636	2203	4300	6503	SO:0001583	missense	64863	exon4			CAACTGTAAAGAT		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.489A>C	18.37:g.2555008T>G	ENSP00000458290:p.Leu163Phe	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_022840	B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	267	0.12225274725274725	144	0.2926829268292683	25	0.06906077348066299	68	0.11888111888111888	30	0.0395778364116095	T	12.78	2.040473	0.35989	0.226736	0.04314	ENSG00000101574	ENST00000319888	T	0.23754	1.89	5.85	-1.09	0.09904	.	0.825401	0.10955	N	0.615673	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	P	0.38642	0.641	B	0.31614	0.133	T	0.36915	-0.9728	9	0.56958	D	0.05	-3.4072	0.7179	0.00935	0.258:0.3031:0.1325:0.3065	rs12606220;rs12606220	163	Q8N3J2	METL4_HUMAN	F	163	ENSP00000320349:L163F	ENSP00000320349:L163F	L	-	3	2	METTL4	2545008	0.000000	0.05858	0.734000	0.30879	0.810000	0.45777	0.176000	0.16782	-0.413000	0.07507	0.533000	0.62120	TTA	T|0.885;G|0.115	0.115	strong		0.363	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		G	2555008	T	G	2555008	3	3	22	1	0	0	0	0	1	0	0	0	9502	1635	57	5	953	5	METTL4	18	2555008	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3	2555008	75522240	9132	14240	293	3								
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2667005	2667005	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggcatgtatgaatattaTgccagtgaaggacaaaatcc	10	6	0	2	rs7239096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2667005T>C	ENST00000320876.6	+	3	737	c.399T>C	c.(397-399)taT>taC	p.Y133Y	SMCHD1_ENST00000261598.8_Silent_p.Y133Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	133					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATGAATATTATGCCAGTGAAG	0.378													T|||	159	0.0317492	0.1142	0.0101	5008	,	,		20279	0.0		0.001	False		,,,				2504	0.0				p.Y133Y		Atlas-SNP	.											.	SMCHD1	88	.	0			c.T399C						PASS	.	T		429,3325		30,369,1478	83	72	76		399	5.6	1	18	dbSNP_116	76	7,8219		0,7,4106	no	coding-synonymous	SMCHD1	NM_015295.2		30,376,5584	CC,CT,TT		0.0851,11.4278,3.6394		133/2006	2667005	436,11544	1877	4113	5990	SO:0001819	synonymous_variant	23347	exon3			ATATTATGCCAGT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.399T>C	18.37:g.2667005T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			T|0.974;C|0.026	0.026	strong		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			C	2667005	T	C	2667005	2	2	22	1	0	0	0	0	0	0	0	1	14788	1471	51	2		2	SMCHD1	18	2667005	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111997	2667005	75410243	9133	14241										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2728559	2728559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttagatgaatcagacaacAtaacagcacaaccaaaattg	5	8	1	3	rs9961682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2728559A>G	ENST00000320876.6	+	23	3216	c.2878A>G	c.(2878-2880)Ata>Gta	p.I960V	SMCHD1_ENST00000609587.1_3'UTR|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I960V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	960			I -> V (in dbSNP:rs9961682).		chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATCAGACAACATAACAGCACA	0.358													A|||	154	0.0307508	0.1097	0.0101	5008	,	,		17853	0.001		0.001	False		,,,				2504	0.0				p.I960V		Atlas-SNP	.											.	SMCHD1	88	.	0			c.A2878G						PASS	.	A	VAL/ILE	409,3315		26,357,1479	104	100	101		2878	-3.5	0.9	18	dbSNP_119	101	7,8193		0,7,4093	yes	missense	SMCHD1	NM_015295.2	29	26,364,5572	GG,GA,AA		0.0854,10.9828,3.4888	benign	960/2006	2728559	416,11508	1862	4100	5962	SO:0001583	missense	23347	exon23			GACAACATAACAG	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2878A>G	18.37:g.2728559A>G	ENSP00000326603:p.Ile960Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	58	36	0.62069	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	52	0.023809523809523808	46	0.09349593495934959	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	A	10.45	1.352273	0.24512	0.109828	8.54E-4	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24908	1.83;1.84	5.84	-3.46	0.04767	.	0.509376	0.22250	N	0.062565	T	0.00241	0.0007	N	0.14661	0.345	0.26418	N	0.976158	B	0.02656	0.0	B	0.01281	0.0	T	0.16364	-1.0405	10	0.32370	T	0.25	-4.6572	9.6361	0.39809	0.3166:0.2087:0.4747:0.0	rs9961682;rs52802941;rs9961682	960	A6NHR9	SMHD1_HUMAN	V	960	ENSP00000326603:I960V;ENSP00000261598:I960V	ENSP00000261598:I960V	I	+	1	0	SMCHD1	2718559	0.830000	0.29337	0.936000	0.37596	0.999000	0.98932	-0.076000	0.11412	-0.889000	0.03950	0.528000	0.53228	ATA	A|0.969;G|0.031	0.031	strong		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			G	2728559	A	G	2728559	3	3	22	1	0	0	0	0	1	0	0	0	14788	217	8	2	2968	2	SMCHD1	18	2728559	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	61554	2728559	75348689	9134	14242										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2740798	2740798	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggttggacttgatagctcAaatttgaaaacaacctttca	9	7	2	2	rs115632137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:2740798A>T	ENST00000320876.6	+	28	3950	c.3612A>T	c.(3610-3612)tcA>tcT	p.S1204S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.S1204S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1204					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGATAGCTCAAATTTGAAAA	0.313													A|||	154	0.0307508	0.1104	0.0101	5008	,	,		14819	0.0		0.001	False		,,,				2504	0.0				p.S1204S		Atlas-SNP	.											.	SMCHD1	88	.	0			c.A3612T						PASS	.	A		399,3233		26,347,1443	108	110	109		3612	-0.6	1	18	dbSNP_132	109	7,8115		0,7,4054	no	coding-synonymous	SMCHD1	NM_015295.2		26,354,5497	TT,TA,AA		0.0862,10.9857,3.4541		1204/2006	2740798	406,11348	1816	4061	5877	SO:0001819	synonymous_variant	23347	exon28			TAGCTCAAATTTG	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3612A>T	18.37:g.2740798A>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	129	74	0.573643	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			A|0.973;T|0.027	0.027	strong		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2740798	A	T	2740798	2	4	22	1	0	0	0	0	0	0	0	1	14788	117	5	5		5	SMCHD1	18	2740798	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12239	2740798	75336450	9135	14243										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3067278	3067278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcacttggccttcttgccAcctttcagggactccaaggc	10	14	3	0	rs2230164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3067278A>G	ENST00000356443.4	-	38	5373	c.5040T>C	c.(5038-5040)ggT>ggC	p.G1680G	MYOM1_ENST00000261606.7_Silent_p.G1584G|MYOM1_ENST00000400569.3_Silent_p.G1680G	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1680					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTCTTGCCACCTTTCAGGG	0.567													G|||	2977	0.594449	0.8533	0.4207	5008	,	,		16407	0.5308		0.4652	False		,,,				2504	0.5665				p.G1680G		Atlas-SNP	.											MYOM1,colon,carcinoma,0,1	MYOM1	192	1	0			c.T5040C						PASS	.	G	,	3376,978		1313,750,114	19	26	24		5040,4752	-2.1	0	18	dbSNP_98	24	3990,4564		936,2118,1223	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	2249,2868,1337	GG,GA,AA		46.6448,22.4621,42.9346	,	1680/1686,1584/1590	3067278	7366,5542	2177	4277	6454	SO:0001819	synonymous_variant	8736	exon38			CTTGCCACCTTTC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.5040T>C	18.37:g.3067278A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			A|0.424;G|0.576	0.576	strong		0.567	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3067278	A	G	3067278	2	3	22	1	0	0	0	0	0	0	0	1	10091	146	6	2		2	MYOM1	18	3067278	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	326480	3067278	75009970	9136	14244										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3075746	3075746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctctggaattcagcataGgcctcatcgtatgctttaaa	7	10	3	0	rs1143657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3075746G>A	ENST00000356443.4	-	35	4995	c.4662C>T	c.(4660-4662)gcC>gcT	p.A1554A	MYOM1_ENST00000261606.7_Silent_p.A1458A|MYOM1_ENST00000400569.3_Silent_p.A1554A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1554					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.A1554A(3)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTCAGCATAGGCCTCATCGT	0.443													G|||	919	0.183506	0.1747	0.183	5008	,	,		18427	0.1875		0.2008	False		,,,				2504	0.1738				p.A1554A		Atlas-SNP	.											MYOM1,NS,carcinoma,0,2	MYOM1	192	2	3	Substitution - coding silent(3)	prostate(2)|stomach(1)	c.C4662T						PASS	.	G	,	525,3227		38,449,1389	58	58	58		4662,4374	4.2	1	18	dbSNP_123	58	1395,6825		108,1179,2823	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	146,1628,4212	AA,AG,GG		16.9708,13.9925,16.0374	,	1554/1686,1458/1590	3075746	1920,10052	1876	4110	5986	SO:0001819	synonymous_variant	8736	exon35			AGCATAGGCCTCA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4662C>T	18.37:g.3075746G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	27	0.397059	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			G|0.810;A|0.190	0.190	strong		0.443	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3075746	G	A	3075746	2	1	22	1	0	0	0	0	0	0	0	1	10091	987	35	2		2	MYOM1	18	3075746	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8468	3075746	75001502	9137	14245										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3126811	3126811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtaatttctgcccctccaAtcttatctggttgcttccat	5	13	3	0	rs1071600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3126811A>G	ENST00000356443.4	-	19	3212	c.2879T>C	c.(2878-2880)aTt>aCt	p.I960T	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Missense_Mutation_p.I864T|MYOM1_ENST00000400569.3_Missense_Mutation_p.I960T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	960	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in dbSNP:rs1071600). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7505783, ECO:0000269|Ref.1}.		muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.I960T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCCTCCAATCTTATCTGG	0.453													A|||	1274	0.254393	0.3177	0.1988	5008	,	,		20132	0.3204		0.1571	False		,,,				2504	0.2403				p.I960T		Atlas-SNP	.											MYOM1,NS,carcinoma,0,1	MYOM1	192	1	1	Substitution - Missense(1)	stomach(1)	c.T2879C						PASS	.	A	THR/ILE,THR/ILE	1017,2887		125,767,1060	98	89	92		2879,2591	1.4	1	18	dbSNP_86	92	1175,7127		78,1019,3054	yes	missense,missense	MYOM1	NM_003803.3,NM_019856.1	89,89	203,1786,4114	GG,GA,AA		14.1532,26.0502,17.9584	benign,benign	960/1686,864/1590	3126811	2192,10014	1952	4151	6103	SO:0001583	missense	8736	exon19			CCTCCAATCTTAT	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2879T>C	18.37:g.3126811A>G	ENSP00000348821:p.Ile960Thr	Somatic	339	0	0		WXS	Illumina HiSeq	Phase_I	364	165	0.453297	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	562	0.2573260073260073	169	0.3434959349593496	65	0.17955801104972377	207	0.3618881118881119	121	0.15963060686015831	A	0.202	-1.044108	0.01997	0.260502	0.141532	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.54479	0.57;0.57;0.57	5.46	1.43	0.22495	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.317474	0.37857	N	0.001914	T	0.00012	0.0000	N	0.01086	-1.025	0.51767	P	6.700000000003925E-5	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.41858	-0.9485	9	0.12103	T	0.63	.	7.3969	0.26942	0.1872:0.3443:0.4685:0.0	rs1071600;rs52834060;rs60947648;rs1071600	864;960	P52179-2;P52179	.;MYOM1_HUMAN	T	960;960;864	ENSP00000348821:I960T;ENSP00000383413:I960T;ENSP00000261606:I864T	ENSP00000261606:I864T	I	-	2	0	MYOM1	3116811	0.006000	0.16342	0.972000	0.41901	0.926000	0.56050	0.450000	0.21762	-0.028000	0.13850	-0.242000	0.12053	ATT	A|0.744;G|0.256	0.256	strong		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3126811	A	G	3126811	3	3	22	1	0	0	0	0	1	0	0	0	10091	101	4	2	2258	2	MYOM1	18	3126811	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51065	3126811	74950437	9138	14246										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3168816	3168816	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcattgtaaagactcaccGtttctgtaccactggatctc	6	11	4	1	rs2230167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3168816G>A	ENST00000356443.4	-	9	1671	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	MYOM1_ENST00000261606.7_Splice_Site_p.N446N|MYOM1_ENST00000400569.3_Splice_Site_p.N446N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	446	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGACTCACCGTTTCTGTACC	0.438													A|||	1413	0.282149	0.3313	0.2061	5008	,	,		18941	0.2798		0.2356	False		,,,				2504	0.32				p.N446N		Atlas-SNP	.											.	MYOM1	192	.	0			c.C1338T						PASS	.	A	,	1167,2591		170,827,882	106	99	101		1338,1338	4.4	1	18	dbSNP_98	101	2179,6049		287,1605,2222	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	MYOM1	NM_003803.3,NM_019856.1	,	457,2432,3104	AA,AG,GG		26.4827,31.0538,27.9159	,	446/1686,446/1590	3168816	3346,8640	1879	4114	5993	SO:0001630	splice_region_variant	8736	exon9			CTCACCGTTTCTG	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1339+1C>T	18.37:g.3168816G>A		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	158	158	1	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			T|0.125;G|0.436;C|0.285;A|0.154	0.154	strong		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Silent	A	3168816	G	A	3168816	5	1	22	1	0	0	0	0	0	0	1	0	10091	1159	40	1	3839	1	MYOM1	18	3168816	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42005	3168816	74908432	9139	14247										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3173964	3173964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcatggtggaagccccagcGtggaagcgagtctcatcaaa	14	10	2	0	rs2230163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3173964G>A	ENST00000356443.4	-	8	1479	c.1146C>T	c.(1144-1146)caC>caT	p.H382H	MYOM1_ENST00000400569.3_Silent_p.H382H|MYOM1_ENST00000261606.7_Silent_p.H382H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	382					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGCCCCAGCGTGGAAGCGAG	0.408													A|||	1583	0.316094	0.4002	0.2262	5008	,	,		16674	0.2669		0.3062	False		,,,				2504	0.3272				p.H382H		Atlas-SNP	.											.	MYOM1	192	.	0			c.C1146T						PASS	.	A	,	1462,2268		303,856,706	82	78	79		1146,1146	-0.4	0	18	dbSNP_98	79	2593,5621		417,1759,1931	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	720,2615,2637	AA,AG,GG		31.5681,39.1957,33.9501	,	382/1686,382/1590	3173964	4055,7889	1865	4107	5972	SO:0001819	synonymous_variant	8736	exon8			CCCAGCGTGGAAG	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1146C>T	18.37:g.3173964G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			T|0.130;G|0.427;C|0.268;A|0.175	0.175	strong		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3173964	G	A	3173964	2	1	22	1	0	0	0	0	0	0	0	1	10091	1136	40	1		1	MYOM1	18	3173964	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5148	3173964	74903284	9140	14248										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3176063	3176063	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaatctccagagtgtgcatCccatatcgactctcaataat	5	11	2	1	rs2230162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3176063C>T	ENST00000356443.4	-	6	1332	c.999G>A	c.(997-999)ggG>ggA	p.G333G	MYOM1_ENST00000261606.7_Silent_p.G333G|MYOM1_ENST00000400569.3_Silent_p.G333G	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	333	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGTGTGCATCCCATATCGAC	0.423													T|||	1368	0.273163	0.2436	0.2161	5008	,	,		22191	0.2659		0.3062	False		,,,				2504	0.3272				p.G333G		Atlas-SNP	.											.	MYOM1	192	.	0			c.G999A						PASS	.	T	,	1005,2911		130,745,1083	106	104	104		999,999	4.7	1	18	dbSNP_98	104	2585,5711		409,1767,1972	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	539,2512,3055	TT,TC,CC		31.1596,25.6639,29.3973	,	333/1686,333/1590	3176063	3590,8622	1958	4148	6106	SO:0001819	synonymous_variant	8736	exon6			GTGCATCCCATAT	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.999G>A	18.37:g.3176063C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	109	62	0.568807	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			T|0.164;G|0.282	0.164	strong		0.423	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		T	3176063	C	T	3176063	2	4	22	1	0	0	0	0	0	0	0	1	10091	842	30	2		2	MYOM1	18	3176063	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2099	3176063	74901185	9141	14249										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3188976	3188976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgccgtggactgtttagAtgttgtgattccttcctcac	11	9	1	2	rs1962519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3188976A>G	ENST00000356443.4	-	4	874	c.541T>C	c.(541-543)Tct>Cct	p.S181P	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.S181P|MYOM1_ENST00000400569.3_Missense_Mutation_p.S181P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	181			S -> P (in dbSNP:rs1962519). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505783}.		muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTGTTTAGATGTTGTGATT	0.488													A|||	2220	0.443291	0.1641	0.402	5008	,	,		17012	0.8363		0.4026	False		,,,				2504	0.4867				p.S181P		Atlas-SNP	.											.	MYOM1	192	.	0			c.T541C						PASS	.	A	PRO/SER,PRO/SER	747,3251		72,603,1324	325	297	306		541,541	1.3	0.6	18	dbSNP_92	306	3467,4881		745,1977,1452	yes	missense,missense	MYOM1	NM_003803.3,NM_019856.1	74,74	817,2580,2776	GG,GA,AA		41.5309,18.6843,34.1325	benign,benign	181/1686,181/1590	3188976	4214,8132	1999	4174	6173	SO:0001583	missense	8736	exon4			GTTTAGATGTTGT	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.541T>C	18.37:g.3188976A>G	ENSP00000348821:p.Ser181Pro	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	203	83	0.408867	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	1011	0.46291208791208793	85	0.17276422764227642	139	0.3839779005524862	477	0.833916083916084	310	0.40897097625329815	A	12.33	1.904802	0.33628	0.186843	0.415309	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.54479	0.73;0.74;0.57	4.27	1.27	0.21489	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	6.999999999979245E-6	D;P	0.56968	0.978;0.856	P;B	0.53146	0.719;0.312	T	0.31806	-0.9930	8	0.27082	T	0.32	.	7.6383	0.28280	0.5186:0.0:0.0:0.4814	rs1962519;rs17531602;rs60425523;rs1962519	181;181	P52179-2;P52179	.;MYOM1_HUMAN	P	181	ENSP00000348821:S181P;ENSP00000383413:S181P;ENSP00000261606:S181P	ENSP00000261606:S181P	S	-	1	0	MYOM1	3178976	0.077000	0.21312	0.612000	0.29024	0.571000	0.35966	-0.165000	0.09968	0.370000	0.24538	0.491000	0.48974	TCT	A|0.536;G|0.464	0.464	strong		0.488	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3188976	A	G	3188976	3	3	22	1	0	0	0	0	1	0	0	0	10091	333	12	2	4656	2	MYOM1	18	3188976	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12913	3188976	74888272	9142	14250										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3215030	3215030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggaggaggaggcggaCgcccgacggaaggcctcgga	20	10	0	0	rs9964300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3215030C>A	ENST00000356443.4	-	2	525	c.192G>T	c.(190-192)gcG>gcT	p.A64A	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.A64A|MYOM1_ENST00000400569.3_Silent_p.A64A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	64					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGAGGCGGACGCCCGACGGA	0.687													C|||	366	0.0730831	0.1505	0.0994	5008	,	,		14216	0.0119		0.0547	False		,,,				2504	0.0317				p.A64A		Atlas-SNP	.											.	MYOM1	192	.	0			c.G192T						PASS	.	C	,	473,3599		31,411,1594	28	33	31		192,192	-4.2	0	18	dbSNP_119	31	474,7914		11,452,3731	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	42,863,5325	AA,AC,CC		5.6509,11.6159,7.6003	,	64/1686,64/1590	3215030	947,11513	2036	4194	6230	SO:0001819	synonymous_variant	8736	exon2			GGCGGACGCCCGA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.192G>T	18.37:g.3215030C>A		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	32	20	0.625	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			C|0.932;A|0.068	0.068	strong		0.687	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3215030	C	A	3215030	2	1	22	1	0	0	0	0	0	0	0	1	10091	523	19	4		4	MYOM1	18	3215030	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26054	3215030	74862218	9143	14251										
TGIF1	7050	hgsc.bcm.edu	37	chr18	3452262	3452262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagccgcgtgccctctcCccggagctggggaccaaggc	13	18	1	0	rs8098291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3452262C>T	ENST00000330513.5	+	1	588	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000401449.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	95					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTGCCCTCTCCCCGGAGCTGG	0.771													C|||	265	0.0529153	0.1861	0.0245	5008	,	,		9736	0.0		0.002	False		,,,				2504	0.0				p.S95S		Atlas-SNP	.											.	TGIF1	41	.	0			c.C285T						PASS	.	C	,,,,,,	598,3670		33,532,1569	8	9	9		,285,,,,,	3.5	0	18	dbSNP_116	9	17,8359		0,17,4171	no	intron,coding-synonymous,intron,intron,intron,intron,intron	TGIF1	NM_003244.2,NM_170695.2,NM_173207.1,NM_173208.1,NM_173209.1,NM_173210.1,NM_174886.1	,,,,,,	33,549,5740	TT,TC,CC		0.203,14.0112,4.864	,,,,,,	,95/402,,,,,	3452262	615,12029	2134	4188	6322	SO:0001819	synonymous_variant	7050	exon1			CCTCTCCCCGGAG	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.285C>T	18.37:g.3452262C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	22	14	0.636364	NM_170695	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	37	CCDS11834.1																																																																																			C|0.953;T|0.047	0.047	strong		0.771	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		T	3452262	C	T	3452262	2	4	22	1	0	0	0	0	0	0	0	1	15822	610	22	2		2	TGIF1	18	3452262	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	237232	3452262	74624986	9144	14252										
DLGAP1	9229	hgsc.bcm.edu	37	chr18	3814148	3814148	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggagaaggcttaggactCgtgtctgagtctccactgtc	12	9	2	2	rs3786431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:3814148C>G	ENST00000315677.3	-	5	1678	c.1083G>C	c.(1081-1083)acG>acC	p.T361T	DLGAP1_ENST00000534970.1_Silent_p.T73T|DLGAP1_ENST00000539435.1_Silent_p.T59T|DLGAP1_ENST00000581527.1_Silent_p.T361T|DLGAP1_ENST00000584874.1_Silent_p.T361T|DLGAP1_ENST00000515196.2_Silent_p.T361T|DLGAP1_ENST00000400155.1_Silent_p.T67T|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400147.2_Silent_p.T59T|DLGAP1_ENST00000581699.1_Silent_p.T67T|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000400145.2_Silent_p.T59T|DLGAP1_ENST00000400149.3_Silent_p.T69T|DLGAP1_ENST00000400150.3_Silent_p.T67T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	361					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)				GCTTAGGACTCGTGTCTGAGT	0.502													C|||	668	0.133387	0.3101	0.0576	5008	,	,		15513	0.0605		0.0358	False		,,,				2504	0.1237				p.T361T		Atlas-SNP	.											.	DLGAP1	201	.	0			c.G1083C						PASS	.	C	,,,,,,,	1133,3273	407.8+/-334.4	145,843,1215	157	142	147		177,1083,219,219,201,177,177,1083	-9.3	0.8	18	dbSNP_107	147	270,8330	102.7+/-163.9	2,266,4032	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLGAP1	NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3	,,,,,,,	147,1109,5247	GG,GC,CC		3.1395,25.7149,10.7873	,,,,,,,	59/676,361/930,73/662,73/700,67/684,59/628,59/686,361/978	3814148	1403,11603	2203	4300	6503	SO:0001819	synonymous_variant	9229	exon5			AGGACTCGTGTCT	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.1083G>C	18.37:g.3814148C>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_001242761	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																			C|0.896;G|0.104	0.104	strong		0.502	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			G	3814148	C	G	3814148	2	3	22	1	0	0	0	0	0	0	0	1	4559	871	31	4		4	DLGAP1	18	3814148	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	361886	3814148	74263100	9145	14253										
EPB41L3	23136	hgsc.bcm.edu	37	chr18	5416221	5416221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccatcagagtccaaggCgggctctccaggcaggtgct	15	12	2	1	rs9966357	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:5416221C>T	ENST00000341928.2	-	13	2003	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A555T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	555	Spectrin--actin-binding. {ECO:0000255}.		A -> T (in dbSNP:rs9966357).		apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAGTCCAAGGCGGGCTCTCCA	0.572													c|||	252	0.0503195	0.121	0.0187	5008	,	,		17646	0.0		0.0268	False		,,,				2504	0.0532				p.A555T		Atlas-SNP	.											.	EPB41L3	222	.	0			c.G1663A						PASS	.	T	THR/ALA	470,3936	220.7+/-238.1	25,420,1758	82	84	84		1663	-11.1	0	18	dbSNP_119	84	269,8331	103.3+/-164.5	7,255,4038	yes	missense	EPB41L3	NM_012307.2	58	32,675,5796	TT,TC,CC		3.1279,10.6673,5.682	benign	555/1088	5416221	739,12267	2203	4300	6503	SO:0001583	missense	23136	exon13			CCAAGGCGGGCTC	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1663G>A	18.37:g.5416221C>T	ENSP00000343158:p.Ala555Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	167	87	0.520958	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	101	0.04624542124542125	72	0.14634146341463414	7	0.019337016574585635	0	0.0	22	0.029023746701846966	c	0.008	-1.930120	0.00488	0.106673	0.031279	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80393	-1.37;-1.37	5.55	-11.1	0.00147	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.04268	-1.0964	8	0.13470	T	0.59	.	6.6903	0.23167	0.3941:0.1901:0.0:0.4158	rs9966357;rs52812768;rs9966357	555	Q9Y2J2	E41L3_HUMAN	T	555	ENSP00000343158:A555T;ENSP00000341138:A555T	ENSP00000343158:A555T	A	-	1	0	EPB41L3	5406221	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.647000	0.00860	-4.798000	0.00031	-3.942000	0.00015	GCC	C|0.945;T|0.055	0.055	strong		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5416221	C	T	5416221	3	4	22	1	0	0	0	0	1	0	0	0	5154	768	27	1	1640	1	EPB41L3	18	5416221	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1602073	5416221	72661027	9146	14254										
TMEM200C	645369	hgsc.bcm.edu	37	chr18	5891637	5891637	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggacgtggaggaggaggaCggggaggcggctcgtgctgg	23	7	0	0	rs28656885	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:5891637C>A	ENST00000581347.2	-	3	1071	c.426G>T	c.(424-426)ccG>ccT	p.P142P	RP11-945C19.4_ENST00000580845.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.P142P|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	142						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGGAGGAGGACGGGGAGGCGG	0.652													A|||	1704	0.340256	0.4319	0.3444	5008	,	,		13431	0.2986		0.3598	False		,,,				2504	0.2362				p.P142P		Atlas-SNP	.											.	TMEM200C	30	.	0			c.G426T						PASS	.	A		1809,2421		391,1027,697	58	71	67		426	-8.4	0	18	dbSNP_125	67	3219,5213		630,1959,1627	no	coding-synonymous	TMEM200C	NM_001080209.1		1021,2986,2324	AA,AC,CC		38.176,42.766,39.7094		142/622	5891637	5028,7634	2115	4216	6331	SO:0001819	synonymous_variant	645369	exon1			GGAGGACGGGGAG		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.426G>T	18.37:g.5891637C>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	75	36	0.48	NM_001080209		Silent	SNP	ENST00000581347.2	37	CCDS45825.1																																																																																			C|0.642;A|0.358	0.358	strong		0.652	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		A	5891637	C	A	5891637	2	1	22	1	0	0	0	0	0	0	0	1	16122	523	19	4		4	TMEM200C	18	5891637	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	475416	5891637	72185611	9147	14255										
ARHGAP28	79822	hgsc.bcm.edu	37	chr18	6908976	6908976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcatggttcatcagaatGtattaagattcagaaccaaa	7	7	4	3	rs116232392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:6908976G>A	ENST00000383472.4	+	17	2152	c.2048G>A	c.(2047-2049)tGt>tAt	p.C683Y	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.C524Y|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.C524Y|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.C519Y			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	683					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCATCAGAATGTATTAAGATT	0.284													G|||	125	0.0249601	0.0877	0.0115	5008	,	,		16064	0.0		0.001	False		,,,				2504	0.0				p.C524Y		Atlas-SNP	.											.	ARHGAP28	181	.	0			c.G1571A						PASS	.	G	TYR/CYS	318,4064	152.9+/-186.6	7,304,1880	39	45	43		1571	3	0.9	18	dbSNP_132	43	8,8568	5.7+/-21.5	0,8,4280	yes	missense	ARHGAP28	NM_001010000.2	194	7,312,6160	AA,AG,GG		0.0933,7.257,2.5158	benign	524/571	6908976	326,12632	2191	4288	6479	SO:0001583	missense	79822	exon16			CAGAATGTATTAA	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2048G>A	18.37:g.6908976G>A	ENSP00000372964:p.Cys683Tyr	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	141	54	0.382979	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		53	0.024267399267399268	51	0.10365853658536585	2	0.0055248618784530384	0	0.0	0	0.0	G	7.913	0.736819	0.15574	0.07257	9.33E-4	ENSG00000088756	ENST00000419673;ENST00000531294;ENST00000314319	T;T;T	0.07327	3.2;3.21;3.2	5.8	2.98	0.34508	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.25779	P	0.9847541	B	0.19073	0.033	B	0.16722	0.016	T	0.41270	-0.9518	8	0.05833	T	0.94	.	5.225	0.15389	0.2961:0.1403:0.5637:0.0	.	683	Q9P2N2	RHG28_HUMAN	Y	524;519;524	ENSP00000392660:C524Y;ENSP00000437262:C519Y;ENSP00000313506:C524Y	ENSP00000313506:C524Y	C	+	2	0	ARHGAP28	6898976	0.061000	0.20836	0.902000	0.35471	0.988000	0.76386	1.237000	0.32695	0.343000	0.23821	0.650000	0.86243	TGT	G|0.979;A|0.021	0.021	strong		0.284	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		A	6908976	G	A	6908976	3	1	22	1	0	0	0	0	1	0	0	0	877	1377	48	2	1772	2	ARHGAP28	18	6908976	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1017339	6908976	71168272	9148	14256										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6958609	6958609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcctgctttctactaatgTgcccaacttcatttccacag	5	14	2	0	rs543355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:6958609T>C	ENST00000389658.3	-	55	7924	c.7831A>G	c.(7831-7833)Aca>Gca	p.T2611A	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2611	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> A (in dbSNP:rs543355).		axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCTACTAATGTGCCCAACTTC	0.408													C|||	728	0.145367	0.4917	0.0663	5008	,	,		19526	0.001		0.0298	False		,,,				2504	0.001				p.T2611A		Atlas-SNP	.											LAMA1,colon,carcinoma,0,1	LAMA1	458	1	0			c.A7831G						PASS	.	C	ALA/THR	1940,2466	622.2+/-393.9	445,1050,708	119	97	104		7831	-1.2	0	18	dbSNP_83	104	238,8362	808.8+/-407.2	4,230,4066	yes	missense	LAMA1	NM_005559.3	58	449,1280,4774	CC,CT,TT		2.7674,44.0309,16.7461	benign	2611/3076	6958609	2178,10828	2203	4300	6503	SO:0001583	missense	284217	exon55			CTAATGTGCCCAA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7831A>G	18.37:g.6958609T>C	ENSP00000374309:p.Thr2611Ala	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	187	76	0.406417	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	272	0.12454212454212454	229	0.4654471544715447	20	0.055248618784530384	0	0.0	23	0.030343007915567283	C	1.449	-0.565554	0.03939	0.440309	0.027674	ENSG00000101680	ENST00000389658;ENST00000344342	T	0.79141	-1.24	5.48	-1.21	0.09524	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.839609	0.10473	N	0.670527	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	9	0.28530	T	0.3	.	2.0424	0.03553	0.1834:0.2819:0.3444:0.1904	rs543355;rs52796151;rs60897184;rs543355	2611	P25391	LAMA1_HUMAN	A	2611;64	ENSP00000374309:T2611A	ENSP00000341000:T64A	T	-	1	0	LAMA1	6948609	0.253000	0.23982	0.001000	0.08648	0.087000	0.18053	0.198000	0.17217	-0.379000	0.07906	-0.719000	0.03609	ACA	C|0.157;G|0.000;T|0.843	0.157	strong		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	6958609	T	C	6958609	3	2	22	1	0	0	0	0	1	0	0	0	8605	1696	59	2	1432	2	LAMA1	18	6958609	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	49633	6958609	71118639	9149	14257										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6961950	6961950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaatgtttcctacctccagTaaacagccttttctcactcc	3	15	1	0	rs145257845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:6961950T>C	ENST00000389658.3	-	52	7539	c.7446A>G	c.(7444-7446)ttA>ttG	p.L2482L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2482					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTACCTCCAGTAAACAGCCTT	0.378													T|||	15	0.00299521	0.0106	0.0014	5008	,	,		20021	0.0		0.0	False		,,,				2504	0.0				p.L2482L		Atlas-SNP	.											.	LAMA1	458	.	0			c.A7446G						PASS	.	T		15,4391	22.3+/-47.3	0,15,2188	130	131	131		7446	-9.1	0	18	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,15,6488	CC,CT,TT		0.0,0.3404,0.1153		2482/3076	6961950	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon52			CTCCAGTAAACAG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7446A>G	18.37:g.6961950T>C		Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	300	163	0.543333	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			T|0.998;C|0.002	0.002	strong		0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	6961950	T	C	6961950	2	2	22	1	0	0	0	0	0	0	0	1	8605	1635	57	2		2	LAMA1	18	6961950	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3341	6961950	71115298	9150	14258										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6966296	6966296	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagggtcttcattctgggaGctgcaaagcagaagagatga	14	6	3	3	rs73390557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:6966296G>A	ENST00000389658.3	-	49	6993	c.6900C>T	c.(6898-6900)agC>agT	p.S2300S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2300					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATTCTGGGAGCTGCAAAGCA	0.458													G|||	223	0.0445288	0.1573	0.0187	5008	,	,		17231	0.001		0.001	False		,,,				2504	0.0				p.S2300S		Atlas-SNP	.											.	LAMA1	458	.	0			c.C6900T						PASS	.	G		631,3775	267.7+/-268.0	35,561,1607	40	39	39		6900	0.6	1	18	dbSNP_130	39	6,8594	3.7+/-12.6	0,6,4294	yes	coding-synonymous-near-splice	LAMA1	NM_005559.3		35,567,5901	AA,AG,GG		0.0698,14.3214,4.8977		2300/3076	6966296	637,12369	2203	4300	6503	SO:0001630	splice_region_variant	284217	exon49			CTGGGAGCTGCAA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6900-1C>T	18.37:g.6966296G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	32	13	0.40625	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			G|0.950;A|0.050	0.050	strong		0.458	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Silent	A	6966296	G	A	6966296	5	1	22	1	0	0	0	0	0	0	1	0	8605	985	34	2	2387	2	LAMA1	18	6966296	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4346	6966296	71110952	9151	14259										
LAMA1	284217	hgsc.bcm.edu	37	chr18	6977844	6977844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacaaaaggttggcttgaAtttccacgtctttgactttt	7	8	1	2	rs671871	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:6977844A>G	ENST00000389658.3	-	44	6320	c.6227T>C	c.(6226-6228)aTt>aCt	p.I2076T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2076	Domain II and I.		I -> T (in dbSNP:rs671871).		axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTTGGCTTGAATTTCCACGTC	0.418													G|||	1372	0.273962	0.6309	0.2089	5008	,	,		20170	0.0893		0.172	False		,,,				2504	0.1329				p.I2076T		Atlas-SNP	.											.	LAMA1	458	.	0			c.T6227C						PASS	.	G	THR/ILE	2401,2005	560.5+/-380.5	669,1063,471	60	58	58		6227	2.2	0.9	18	dbSNP_83	58	1522,7078	746.3+/-407.3	130,1262,2908	yes	missense	LAMA1	NM_005559.3	89	799,2325,3379	GG,GA,AA		17.6977,45.5061,30.163	benign	2076/3076	6977844	3923,9083	2203	4300	6503	SO:0001583	missense	284217	exon44			GCTTGAATTTCCA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6227T>C	18.37:g.6977844A>G	ENSP00000374309:p.Ile2076Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	553	0.2532051282051282	294	0.5975609756097561	71	0.19613259668508287	59	0.10314685314685315	129	0.17018469656992086	G	5.574	0.290674	0.10567	0.544939	0.176977	ENSG00000101680	ENST00000389658	T	0.41400	1.0	5.1	2.15	0.27550	Laminin II (1);	0.565454	0.17247	N	0.181313	T	0.00012	0.0000	N	0.00926	-1.1	0.54753	P	1.799999999996249E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.15952	T	0.53	.	5.0817	0.14661	0.3013:0.0:0.5527:0.1461	rs671871;rs56554268;rs58305327;rs671871	2076	P25391	LAMA1_HUMAN	T	2076	ENSP00000374309:I2076T	ENSP00000374309:I2076T	I	-	2	0	LAMA1	6967844	0.989000	0.36119	0.949000	0.38748	0.939000	0.58152	1.200000	0.32247	0.209000	0.20645	-0.119000	0.15052	ATT	A|0.717;G|0.283	0.283	strong		0.418	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	6977844	A	G	6977844	3	3	22	1	0	0	0	0	1	0	0	0	8605	101	4	2	3080	2	LAMA1	18	6977844	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11548	6977844	71099404	9152	14260										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7012123	7012123	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgacattcgttgcactgaggAccaaagacattttcctacag	8	11	0	2	rs9946794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7012123A>G	ENST00000389658.3	-	24	3471	c.3378T>C	c.(3376-3378)ggT>ggC	p.G1126G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1126	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCACTGAGGACCAAAGACAT	0.512													G|||	2104	0.420128	0.851	0.3833	5008	,	,		15427	0.0536		0.3648	False		,,,				2504	0.2986				p.G1126G		Atlas-SNP	.											LAMA1,NS,carcinoma,0,1	LAMA1	458	1	0			c.T3378C						PASS	.	G		3346,1060	383.0+/-324.7	1264,818,121	42	42	42		3378	-0.9	0.8	18	dbSNP_119	42	3349,5251	640.8+/-399.6	663,2023,1614	no	coding-synonymous	LAMA1	NM_005559.3		1927,2841,1735	GG,GA,AA		38.9419,24.0581,48.5238		1126/3076	7012123	6695,6311	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon24			CTGAGGACCAAAG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3378T>C	18.37:g.7012123A>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			A|0.528;G|0.472	0.472	strong		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7012123	A	G	7012123	2	3	22	1	0	0	0	0	0	0	0	1	8605	262	10	2		2	LAMA1	18	7012123	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34279	7012123	71065125	9153	14261										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7017322	7017322	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacgtttggtttgcagtcAcagagcccggtctcaagatg	12	10	3	2	rs539713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7017322A>G	ENST00000389658.3	-	20	2856	c.2763T>C	c.(2761-2763)tgT>tgC	p.C921C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	921	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTTTGCAGTCACAGAGCCCGG	0.488													A|||	2742	0.547524	0.9168	0.4135	5008	,	,		19361	0.2262		0.5368	False		,,,				2504	0.4857				p.C921C		Atlas-SNP	.											.	LAMA1	458	.	0			c.T2763C						PASS	.	A		3707,699	760.4+/-413.0	1563,581,59	168	126	140		2763	-5	0.5	18	dbSNP_83	140	4601,3999	598.7+/-394.0	1254,2093,953	no	coding-synonymous	LAMA1	NM_005559.3		2817,2674,1012	GG,GA,AA		46.5,15.8647,36.1218		921/3076	7017322	8308,4698	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon20			GCAGTCACAGAGC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2763T>C	18.37:g.7017322A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			A|0.392;G|0.608	0.608	strong		0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7017322	A	G	7017322	2	3	22	1	0	0	0	0	0	0	0	1	8605	157	6	2		2	LAMA1	18	7017322	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5199	7017322	71059926	9154	14262										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7023371	7023371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttccatagtaaccatctgcAcatctgtatcaaagattgaa	5	9	3	2	rs684634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7023371A>G	ENST00000389658.3	-	19	2586	c.2493T>C	c.(2491-2493)tgT>tgC	p.C831C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	831	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AACCATCTGCACATCTGTATC	0.502													G|||	2190	0.4373	0.8533	0.389	5008	,	,		20795	0.1429		0.3807	False		,,,				2504	0.271				p.C831C		Atlas-SNP	.											LAMA1,NS,adenoma,0,1	LAMA1	458	1	0			c.T2493C						PASS	.	G		3319,1087	389.8+/-327.4	1257,805,141	77	75	75		2493	-6	0.9	18	dbSNP_83	75	3267,5333	645.7+/-400.2	603,2061,1636	no	coding-synonymous	LAMA1	NM_005559.3		1860,2866,1777	GG,GA,AA		37.9884,24.6709,49.3618		831/3076	7023371	6586,6420	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon19			ATCTGCACATCTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2493T>C	18.37:g.7023371A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			A|0.524;G|0.476	0.476	strong		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7023371	A	G	7023371	2	3	22	1	0	0	0	0	0	0	0	1	8605	157	6	2		2	LAMA1	18	7023371	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6049	7023371	71053877	9155	14263										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7033037	7033037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacagtgctccacatcagcGgccaccaccaggtcgatggc	10	16	2	0	rs621993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7033037G>A	ENST00000389658.3	-	15	2202	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	703	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCACATCAGCGGCCACCACCA	0.512													G|||	2036	0.40655	0.708	0.3905	5008	,	,		18010	0.1319		0.4036	False		,,,				2504	0.2965				p.A703A		Atlas-SNP	.											LAMA1,brain,glioma,-1,1	LAMA1	458	1	0			c.C2109T						PASS	.	G		2823,1583	657.4+/-400.2	894,1035,274	107	78	88		2109	-0.5	0	18	dbSNP_83	88	3478,5122	495.4+/-374.0	690,2098,1512	no	coding-synonymous	LAMA1	NM_005559.3		1584,3133,1786	AA,AG,GG		40.4419,35.9283,48.4469		703/3076	7033037	6301,6705	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon15			ATCAGCGGCCACC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2109C>T	18.37:g.7033037G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			G|0.542;A|0.458	0.458	strong		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7033037	G	A	7033037	2	1	22	1	0	0	0	0	0	0	0	1	8605	1103	39	1		1	LAMA1	18	7033037	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9666	7033037	71044211	9156	14264										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7040197	7040197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgatcacatttttctcctgTataaccttccttacatgggc	6	12	2	0	rs62619829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7040197T>C	ENST00000389658.3	-	10	1393	c.1300A>G	c.(1300-1302)Aca>Gca	p.T434A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	434	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTTTCTCCTGTATAACCTTCC	0.507													T|||	77	0.0153754	0.0552	0.0058	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0				p.T434A		Atlas-SNP	.											.	LAMA1	458	.	0			c.A1300G						PASS	.	T	ALA/THR	190,4216	118.8+/-156.5	2,186,2015	150	136	141		1300	1.4	0.9	18	dbSNP_129	141	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LAMA1	NM_005559.3	58	2,191,6310	CC,CT,TT		0.0581,4.3123,1.4993	benign	434/3076	7040197	195,12811	2203	4300	6503	SO:0001583	missense	284217	exon10			CTCCTGTATAACC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1300A>G	18.37:g.7040197T>C	ENSP00000374309:p.Thr434Ala	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	106	52	0.490566	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	T	2.627	-0.287315	0.05605	0.043123	5.81E-4	ENSG00000101680	ENST00000389658	T	0.60797	0.16	5.32	1.35	0.21983	EGF-like, laminin (4);	0.395100	0.27622	N	0.018551	T	0.08133	0.0203	N	0.12831	0.26	0.25331	N	0.989032	B	0.02656	0.0	B	0.08055	0.003	T	0.10042	-1.0647	10	0.06891	T	0.86	.	8.4468	0.32847	0.0:0.5006:0.0:0.4994	rs62619829	434	P25391	LAMA1_HUMAN	A	434	ENSP00000374309:T434A	ENSP00000374309:T434A	T	-	1	0	LAMA1	7030197	0.000000	0.05858	0.947000	0.38551	0.982000	0.71751	-0.882000	0.04174	0.407000	0.25591	-0.146000	0.13790	ACA	T|0.986;C|0.014	0.014	strong		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	7040197	T	C	7040197	3	2	22	1	0	0	0	0	1	0	0	0	8605	1638	57	2	8143	2	LAMA1	18	7040197	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7160	7040197	71037051	9157	14265										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7043335	7043335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaactgtccagcagtattcAaacttttcttctgctttgca	6	10	3	1	rs9950267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:7043335A>G	ENST00000389658.3	-	8	1139	c.1046T>C	c.(1045-1047)tTg>tCg	p.L349S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	349	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.		L -> S (in dbSNP:rs9950267).		axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGCAGTATTCAAACTTTTCTT	0.358													A|||	305	0.0609026	0.2179	0.0245	5008	,	,		18061	0.0		0.0	False		,,,				2504	0.0				p.L349S		Atlas-SNP	.											.	LAMA1	458	.	0			c.T1046C						PASS	.	A	SER/LEU	821,3585	325.6+/-299.2	69,683,1451	195	169	178		1046	5.8	0.1	18	dbSNP_119	178	11,8589	8.4+/-32.0	0,11,4289	yes	missense	LAMA1	NM_005559.3	145	69,694,5740	GG,GA,AA		0.1279,18.6337,6.397	probably-damaging	349/3076	7043335	832,12174	2203	4300	6503	SO:0001583	missense	284217	exon8			GTATTCAAACTTT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1046T>C	18.37:g.7043335A>G	ENSP00000374309:p.Leu349Ser	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	137	135	0.985401	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	96	0.04395604395604396	87	0.17682926829268292	9	0.024861878453038673	0	0.0	0	0.0	A	13.81	2.349439	0.41599	0.186337	0.001279	ENSG00000101680	ENST00000389658	T	0.20200	2.09	5.76	5.76	0.90799	EGF-like, laminin (3);	0.273866	0.29212	N	0.012820	T	0.00109	0.0003	M	0.84511	2.7	0.25975	P	0.9824494	D	0.76494	0.999	D	0.67900	0.954	T	0.00282	-1.1850	9	0.56958	D	0.05	.	16.3668	0.83335	1.0:0.0:0.0:0.0	rs9950267;rs9950267	349	P25391	LAMA1_HUMAN	S	349	ENSP00000374309:L349S	ENSP00000374309:L349S	L	-	2	0	LAMA1	7033335	0.998000	0.40836	0.125000	0.21846	0.015000	0.08874	6.262000	0.72514	2.322000	0.78497	0.528000	0.53228	TTG	A|0.939;G|0.061	0.061	strong		0.358	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7043335	A	G	7043335	3	3	22	1	0	0	0	0	1	0	0	0	8605	131	5	2	8405	2	LAMA1	18	7043335	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3138	7043335	71033913	9158	14266										
KIAA0802	23255	hgsc.bcm.edu	37	chr18	8825192	8825192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgggagacaccaagggAggccctccagaacccatgct	12	15	0	2	rs581894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:8825192A>G	ENST00000306329.11	+	13	4641	c.4641A>G	c.(4639-4641)ggA>ggG	p.G1547G	SOGA2_ENST00000518815.1_Silent_p.G553G|SOGA2_ENST00000359865.3_Silent_p.G1228G|SOGA2_ENST00000517570.1_Silent_p.G1187G|SOGA2_ENST00000400050.3_Silent_p.G1187G|SOGA2_ENST00000306285.7_Silent_p.G553G														p.G1229fs*52(1)									ACACCAAGGGAGGCCCTCCAG	0.687													G|||	2950	0.589058	0.7617	0.6441	5008	,	,		16650	0.4038		0.6342	False		,,,				2504	0.4611				p.G1228G		Atlas-SNP	.											CCDC165,NS,carcinoma,0,1	.	.	1	1	Deletion - Frameshift(1)	prostate(1)	c.A3684G						PASS	.	G		3180,1218		1179,822,198	18	21	20		3684	0.7	0.1	18	dbSNP_83	20	5108,3478		1604,1900,789	no	coding-synonymous	CCDC165	NM_015210.3		2783,2722,987	GG,GA,AA		40.5078,27.6944,36.1676		1228/1587	8825192	8288,4696	2199	4293	6492	SO:0001819	synonymous_variant	23255	exon15			CAAGGGAGGCCCT																												ENST00000306329.11:c.4641A>G	18.37:g.8825192A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_015210		Silent	SNP	ENST00000306329.11	37																																																																																				A|0.389;G|0.611	0.611	strong		0.687	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			G	8825192	A	G	8825192	2	3	22	1	0	0	0	0	0	0	0	1	8194	291	11	3		3	KIAA0802	18	8825192	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1781857	8825192	69252056	9159	14267										
KIAA0802	23255	hgsc.bcm.edu	37	chr18	8825399	8825399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaggaatgccatctgctcCggccctggcgagctgcaagt	13	13	2	0	rs16954339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:8825399C>T	ENST00000306329.11	+	13	4848	c.4848C>T	c.(4846-4848)tcC>tcT	p.S1616S	SOGA2_ENST00000518815.1_Silent_p.S622S|SOGA2_ENST00000359865.3_Silent_p.S1297S|SOGA2_ENST00000517570.1_Silent_p.S1256S|SOGA2_ENST00000400050.3_Silent_p.S1256S|SOGA2_ENST00000306285.7_Silent_p.S622S																							CCATCTGCTCCGGCCCTGGCG	0.592													T|||	520	0.103834	0.2216	0.0836	5008	,	,		19797	0.0774		0.0318	False		,,,				2504	0.0603				p.S1297S		Atlas-SNP	.											.	.	.	.	0			c.C3891T						PASS	.	T		883,3523	731.8+/-410.3	95,693,1415	47	41	43		3891	-5.5	0	18	dbSNP_123	43	345,8255	790.9+/-407.6	10,325,3965	no	coding-synonymous	CCDC165	NM_015210.3		105,1018,5380	TT,TC,CC		4.0116,20.0409,9.4418		1297/1587	8825399	1228,11778	2203	4300	6503	SO:0001819	synonymous_variant	23255	exon15			CTGCTCCGGCCCT																												ENST00000306329.11:c.4848C>T	18.37:g.8825399C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	136	68	0.5	NM_015210		Silent	SNP	ENST00000306329.11	37																																																																																				C|0.905;T|0.095	0.095	strong		0.592	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8825399	C	T	8825399	2	4	22	1	0	0	0	0	0	0	0	1	8194	639	23	1		1	KIAA0802	18	8825399	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	207	8825399	69251849	9160	14268										
NDUFV2	4729	hgsc.bcm.edu	37	chr18	9117899	9117899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctggaggagctttatttGtggtaagtaattacttagat	12	3	0	1	rs75362221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9117899G>A	ENST00000318388.6	+	2	232	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	RP11-143J12.3_ENST00000579467.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.V43M|RP11-21J18.1_ENST00000579126.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	40					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						AGCTTTATTTGTGGTAAGTAA	0.289													G|||	20	0.00399361	0.0151	0.0	5008	,	,		17599	0.0		0.0	False		,,,				2504	0.0				p.V40M		Atlas-SNP	.											.	NDUFV2	17	.	0			c.G118A						PASS	.	G	MET/VAL	48,4358	45.3+/-79.5	0,48,2155	54	59	57		118	5.5	1	18	dbSNP_131	57	0,8588		0,0,4294	yes	missense	NDUFV2	NM_021074.4	21	0,48,6449	AA,AG,GG		0.0,1.0894,0.3694	benign	40/250	9117899	48,12946	2203	4294	6497	SO:0001583	missense	4729	exon2			TTATTTGTGGTAA	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.118G>A	18.37:g.9117899G>A	ENSP00000327268:p.Val40Met	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	123	52	0.422764	NM_021074	Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	CCDS11842.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	17.70	3.453208	0.63290	0.010894	0.0	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.52057	0.69;0.68	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.89478	3.035	0.80722	D	1	B	0.30406	0.278	B	0.32677	0.15	T	0.59595	-0.7425	10	0.72032	D	0.01	-16.8798	14.9056	0.70715	0.0709:0.0:0.9291:0.0	.	40	P19404	NDUV2_HUMAN	M	40;43	ENSP00000327268:V40M;ENSP00000382908:V43M	ENSP00000327268:V40M	V	+	1	0	NDUFV2	9107899	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.872000	0.69636	2.738000	0.93877	0.585000	0.79938	GTG	G|0.996;A|0.004	0.004	strong		0.289	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		A	9117899	G	A	9117899	3	1	22	1	0	0	0	0	1	0	0	0	10300	1377	48	2	124	2	NDUFV2	18	9117899	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	292500	9117899	68959349	9161	14269										
RALBP1	10928	hgsc.bcm.edu	37	chr18	9517221	9517221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatgtatgatggcattcGgctgccagccgttttccgtg	12	10	0	2	rs28552921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9517221G>A	ENST00000019317.4	+	3	846	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	RP11-61L19.3_ENST00000609094.1_RNA|RNU2-27P_ENST00000516185.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.R208Q			Q15311	RBP1_HUMAN	ralA binding protein 1	208	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GATGGCATTCGGCTGCCAGCC	0.458													G|||	21	0.00419329	0.0159	0.0	5008	,	,		18073	0.0		0.0	False		,,,				2504	0.0				p.R208Q		Atlas-SNP	.											.	RALBP1	48	.	0			c.G623A						PASS	.	G	GLN/ARG	41,4365	45.3+/-79.5	0,41,2162	71	66	67		623	4.2	0.9	18	dbSNP_125	67	0,8600		0,0,4300	yes	missense	RALBP1	NM_006788.3	43	0,41,6462	AA,AG,GG		0.0,0.9305,0.3152	benign	208/656	9517221	41,12965	2203	4300	6503	SO:0001583	missense	10928	exon3			GCATTCGGCTGCC	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.623G>A	18.37:g.9517221G>A	ENSP00000019317:p.Arg208Gln	Somatic	366	1	0.00273224		WXS	Illumina HiSeq	Phase_I	380	179	0.471053	NM_006788	D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	CCDS11845.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	11.16	1.558039	0.27827	0.009305	0.0	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.22134	1.97;1.97	5.1	4.22	0.49857	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.120124	0.56097	D	0.000026	T	0.04724	0.0128	N	0.04768	-0.165	0.43489	D	0.995729	B	0.15473	0.013	B	0.04013	0.001	T	0.14476	-1.0471	10	0.14252	T	0.57	-0.6029	13.6511	0.62312	0.0752:0.0:0.9248:0.0	rs28552921	208	Q15311	RBP1_HUMAN	Q	208	ENSP00000019317:R208Q;ENSP00000372924:R208Q	ENSP00000019317:R208Q	R	+	2	0	RALBP1	9507221	0.992000	0.36948	0.879000	0.34478	0.997000	0.91878	3.800000	0.55537	1.264000	0.44198	0.655000	0.94253	CGG	G|0.996;A|0.004	0.004	strong		0.458	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		A	9517221	G	A	9517221	3	1	22	1	0	0	0	0	1	0	0	0	13012	1116	39	1	629	1	RALBP1	18	9517221	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	399322	9517221	68560027	9162	14270										
PPP4R1	9989	hgsc.bcm.edu	37	chr18	9562042	9562042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgctcaagtctgaatcgCtgtgaatatagtgaagagtg	12	5	2	4	rs2306134	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9562042C>T	ENST00000400556.3	-	13	1851	c.1778G>A	c.(1777-1779)aGc>aAc	p.S593N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S576N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	593			S -> N (in dbSNP:rs2306134).		dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GTCTGAATCGCTGTGAATATA	0.368													T|||	1391	0.277756	0.1997	0.2233	5008	,	,		20058	0.5099		0.167	False		,,,				2504	0.2965				p.S593N	Melanoma(188;1232 2082 5061 11948 35994)	Atlas-SNP	.											PPP4R1_ENST00000400556,NS,carcinoma,+1,1	PPP4R1	63	1	0			c.G1778A						PASS	.	T	ASN/SER,ASN/SER	705,3041		72,561,1240	151	143	145		1778,1727	3.3	0	18	dbSNP_100	145	1305,6899		90,1125,2887	yes	missense,missense	PPP4R1	NM_001042388.1,NM_005134.2	46,46	162,1686,4127	TT,TC,CC		15.9069,18.8201,16.8201	benign,benign	593/951,576/934	9562042	2010,9940	1873	4102	5975	SO:0001583	missense	9989	exon13			GAATCGCTGTGAA	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1778G>A	18.37:g.9562042C>T	ENSP00000383402:p.Ser593Asn	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	153	152	0.993464	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	595	0.2724358974358974	104	0.21138211382113822	66	0.18232044198895028	304	0.5314685314685315	121	0.15963060686015831	T	0.008	-1.931823	0.00488	0.188201	0.159069	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.17213	2.29;2.29	5.09	3.35	0.38373	Armadillo-type fold (1);	0.275088	0.30446	N	0.009603	T	0.00012	0.0000	N	0.00197	-1.87	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40831	-0.9542	8	.	.	.	-3.6677	8.3369	0.32219	0.0:0.2124:0.0:0.7876	rs2306134;rs56617930;rs60567707;rs2306134	593;576	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	N	593;576	ENSP00000383402:S593N;ENSP00000383401:S576N	.	S	-	2	0	PPP4R1	9552042	0.968000	0.33430	0.000000	0.03702	0.018000	0.09664	0.943000	0.29030	0.098000	0.17522	-0.254000	0.11334	AGC	C|0.730;T|0.270	0.270	strong		0.368	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		T	9562042	C	T	9562042	3	4	22	1	0	0	0	0	1	0	0	0	12403	797	28	2	1106	2	PPP4R1	18	9562042	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44821	9562042	68515206	9163	14271										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9886988	9886988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccaaggcctcagtgaagcCcagccagcccaaggagggtg	13	14	1	1	rs34812912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9886988C>T	ENST00000306084.6	+	2	711	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TXNDC2_ENST00000536353.2_Missense_Mutation_p.P104L|TXNDC2_ENST00000357775.5_Missense_Mutation_p.P104L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	171	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCAGTGAAGCCCAGCCAGCCC	0.557													c|||	309	0.0617013	0.0371	0.0576	5008	,	,		21648	0.0198		0.0716	False		,,,				2504	0.1309				p.P171L		Atlas-SNP	.											.	TXNDC2	168	.	0			c.C512T						PASS	.	C	LEU/PRO,LEU/PRO	180,4226	116.3+/-154.2	3,174,2026	127	132	130		512,311	0.8	0	18	dbSNP_126	130	668,7932	167.8+/-219.5	28,612,3660	no	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	98,98	31,786,5686	TT,TC,CC		7.7674,4.0853,6.5201	possibly-damaging,possibly-damaging	171/554,104/487	9886988	848,12158	2203	4300	6503	SO:0001583	missense	84203	exon2			TGAAGCCCAGCCA	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.512C>T	18.37:g.9886988C>T	ENSP00000304908:p.Pro171Leu	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	101	0.04624542124542125	12	0.024390243902439025	19	0.052486187845303865	16	0.027972027972027972	54	0.0712401055408971	c	2.562	-0.301725	0.05495	0.040853	0.077674	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.76839	-1.05;-1.05	2.74	0.756	0.18421	.	3.088650	0.01252	N	0.008906	T	0.12475	0.0303	N	0.19112	0.55	0.09310	N	1	D	0.53312	0.959	P	0.52343	0.696	T	0.48068	-0.9067	9	.	.	.	0.7324	1.1901	0.01863	0.2273:0.4052:0.2233:0.1442	rs34812912	171	Q86VQ3	TXND2_HUMAN	L	104;171;171	ENSP00000350419:P104L;ENSP00000304908:P171L	.	P	+	2	0	TXNDC2	9876988	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.780000	0.00368	0.206000	0.20587	0.481000	0.45027	CCC	C|0.940;T|0.060	0.060	strong		0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			T	9886988	C	T	9886988	3	4	22	1	0	0	0	0	1	0	0	0	16794	623	22	2	518	2	TXNDC2	18	9886988	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	324946	9886988	68190260	9164	14272										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9887149	9887149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccaagctgggcaatattGccaagacctcagtgaagccc	10	13	1	2	rs11662946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9887149G>C	ENST00000306084.6	+	2	872	c.673G>C	c.(673-675)Gcc>Ccc	p.A225P	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.A158P	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	225	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A -> P (in dbSNP:rs11662946).		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGCAATATTGCCAAGACCTC	0.572													g|||	327	0.0652955	0.0477	0.0591	5008	,	,		22613	0.0228		0.0716	False		,,,				2504	0.1309				p.A225P		Atlas-SNP	.											TXNDC2_ENST00000306084,colon,carcinoma,-1,2	TXNDC2	168	2	0			c.G673C						scavenged	.	G	PRO/ALA,PRO/ALA	218,4188	131.8+/-168.3	4,210,1989	130	132	131		673,472	-2.8	0	18	dbSNP_120	131	668,7932	167.1+/-218.9	29,610,3661	no	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	27,27	33,820,5650	CC,CG,GG		7.7674,4.9478,6.8122	benign,benign	225/554,158/487	9887149	886,12120	2203	4300	6503	SO:0001583	missense	84203	exon2			AATATTGCCAAGA	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.673G>C	18.37:g.9887149G>C	ENSP00000304908:p.Ala225Pro	Somatic	134	3	0.0223881		WXS	Illumina HiSeq	Phase_I	154	84	0.545455	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	105	0.04807692307692308	14	0.028455284552845527	20	0.055248618784530384	16	0.027972027972027972	55	0.07255936675461741	g	0.015	-1.566545	0.00903	0.049478	0.077674	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.11604	2.76;2.76	3.14	-2.78	0.05859	.	2.212560	0.02264	N	0.067858	T	0.00144	0.0004	N	0.00377	-1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	9	.	.	.	.	2.2647	0.04076	0.1466:0.2121:0.4354:0.2058	rs11662946;rs11662946	225	Q86VQ3	TXND2_HUMAN	P	158;225;225	ENSP00000350419:A158P;ENSP00000304908:A225P	.	A	+	1	0	TXNDC2	9877149	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.313000	0.08103	-0.458000	0.07023	-0.266000	0.10368	GCC	G|0.937;C|0.063	0.063	strong		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			C	9887149	G	C	9887149	3	2	22	1	0	0	0	0	1	0	0	0	16794	1319	46	4	679	4	TXNDC2	18	9887149	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161	9887149	68190099	9165	14273										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9887546	9887546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccatccagcccaagaaggGtgacatccccaagtccccag	8	16	0	2	rs2240906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9887546G>A	ENST00000306084.6	+	2	1269	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.G290D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	357	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		G -> D (in dbSNP:rs2240906). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGAAGGGTGACATCCCC	0.572													g|||	2412	0.481629	0.3548	0.4481	5008	,	,		22318	0.8155		0.4185	False		,,,				2504	0.3978				p.G357D		Atlas-SNP	.											TXNDC2_ENST00000306084,colon,carcinoma,0,2	TXNDC2	168	2	0			c.G1070A						PASS	.	G	ASP/GLY,ASP/GLY	1660,2746		314,1032,857	151	142	145		1070,869	0.9	0	18	dbSNP_98	145	3635,4965		796,2043,1461	no	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	94,94	1110,3075,2318	AA,AG,GG		42.2674,37.6759,40.712	benign,benign	357/554,290/487	9887546	5295,7711	2203	4300	6503	SO:0001583	missense	84203	exon2			AGAAGGGTGACAT	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1070G>A	18.37:g.9887546G>A	ENSP00000304908:p.Gly357Asp	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	1104	0.5054945054945055	165	0.3353658536585366	156	0.430939226519337	458	0.8006993006993007	325	0.4287598944591029	-	3.140	-0.176442	0.06380	0.376759	0.422674	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.32988	1.43;1.43	3.74	0.852	0.18995	.	.	.	.	.	T	0.00012	0.0000	N	0.25485	0.75	0.80722	P	0.0	B	0.17667	0.023	B	0.24155	0.051	T	0.16928	-1.0386	7	.	.	.	-0.4401	6.3628	0.21437	0.1838:0.2762:0.54:0.0	rs2240906;rs60707091;rs2240906	357	Q86VQ3	TXND2_HUMAN	D	155;290;357;342	ENSP00000350419:G290D;ENSP00000304908:G357D	.	G	+	2	0	TXNDC2	9877546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.783000	0.01770	-0.049000	0.13379	-0.813000	0.03139	GGT	G|0.562;A|0.438	0.438	strong		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			A	9887546	G	A	9887546	3	1	22	1	0	0	0	0	1	0	0	0	16794	1261	44	2	1076	2	TXNDC2	18	9887546	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	397	9887546	68189702	9166	14274										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9888027	9888027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaggtggtgagagagtgCgccatcatgtgtgtcccaac	16	8	1	2	rs11664080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:9888027C>T	ENST00000306084.6	+	2	1750	c.1551C>T	c.(1549-1551)tgC>tgT	p.C517C	TXNDC2_ENST00000357775.5_Silent_p.C450C|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	517	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGAGAGAGTGCGCCATCATGT	0.488													C|||	314	0.0626997	0.0378	0.0591	5008	,	,		19964	0.0218		0.0716	False		,,,				2504	0.1319				p.C517C		Atlas-SNP	.											.	TXNDC2	168	.	0			c.C1551T						PASS	.	C	,	183,4223	117.5+/-155.4	3,177,2023	92	79	83		1551,1350	-4.6	0	18	dbSNP_120	83	668,7932	167.8+/-219.5	28,612,3660	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	31,789,5683	TT,TC,CC		7.7674,4.1534,6.5431	,	517/554,450/487	9888027	851,12155	2203	4300	6503	SO:0001819	synonymous_variant	84203	exon2			AGAGTGCGCCATC	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1551C>T	18.37:g.9888027C>T		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	243	127	0.522634	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																			C|0.941;T|0.059	0.059	strong		0.488	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			T	9888027	C	T	9888027	2	4	22	1	0	0	0	0	0	0	0	1	16794	776	27	1		1	TXNDC2	18	9888027	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481	9888027	68189221	9167	14275										
NAPG	8774	hgsc.bcm.edu	37	chr18	10539774	10539774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaggagatgcagaaactaCcagaggccgttcagctaatt	10	9	1	3	rs2228300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:10539774C>T	ENST00000322897.6	+	6	343	c.274C>T	c.(274-276)Cca>Tca	p.P92S	NAPG_ENST00000542979.1_Missense_Mutation_p.P10S	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	92			P -> S (in dbSNP:rs16974765).		intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GCAGAAACTACCAGAGGCCGT	0.438													C|||	217	0.0433307	0.1573	0.013	5008	,	,		17838	0.0		0.0	False		,,,				2504	0.0				p.P92S		Atlas-SNP	.											.	NAPG	18	.	0			c.C274T						PASS	.	C	SER/PRO	498,3326		28,442,1442	64	64	64		274	4.1	0.1	18	dbSNP_123	64	1,8233		0,1,4116	yes	missense	NAPG	NM_003826.2	74	28,443,5558	TT,TC,CC		0.0121,13.023,4.1383	possibly-damaging	92/313	10539774	499,11559	1912	4117	6029	SO:0001583	missense	8774	exon6			AAACTACCAGAGG	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.274C>T	18.37:g.10539774C>T	ENSP00000324628:p.Pro92Ser	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	115	48	0.417391	NM_003826	B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	CCDS45827.1	74	0.03388278388278388	69	0.1402439024390244	5	0.013812154696132596	0	0.0	0	0.0	C	10.89	1.479069	0.26511	0.13023	1.21E-4	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.75050	-0.9;-0.9	5.82	4.06	0.47325	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.00580	0.0019	L	0.34521	1.04	0.09310	P	0.99999957713	P	0.37101	0.582	B	0.25987	0.065	T	0.28650	-1.0037	9	0.06625	T	0.88	-10.0671	11.8346	0.52316	0.0:0.8645:0.0:0.1355	rs2228300	92	Q99747	SNAG_HUMAN	S	92;10	ENSP00000324628:P92S;ENSP00000442849:P10S	ENSP00000324628:P92S	P	+	1	0	NAPG	10529774	1.000000	0.71417	0.125000	0.21846	0.551000	0.35334	5.446000	0.66600	0.820000	0.34516	0.561000	0.74099	CCA	C|0.965;T|0.035	0.035	strong		0.438	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		T	10539774	C	T	10539774	3	4	22	1	0	0	0	0	1	0	0	0	10164	507	18	2	296	2	NAPG	18	10539774	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	651747	10539774	67537474	9168	14276										
IMPA2	3613	hgsc.bcm.edu	37	chr18	12009913	12009913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaggccgcggcttctgggGccaagtgtgtgctcacccac	14	13	2	1	rs16976948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:12009913G>A	ENST00000269159.3	+	3	504	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	88			A -> T (in dbSNP:rs16976948).		inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGCTTCTGGGGCCAAGTGTGT	0.562													G|||	89	0.0177716	0.0605	0.0115	5008	,	,		16273	0.0		0.001	False		,,,				2504	0.0				p.A88T		Atlas-SNP	.											.	IMPA2	27	.	0			c.G262A						PASS	.	G	THR/ALA	260,4146	149.2+/-183.4	4,252,1947	123	122	122		262	3.5	1	18	dbSNP_123	122	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IMPA2	NM_014214.2	58	4,253,6246	AA,AG,GG		0.0116,5.901,2.0068	benign	88/289	12009913	261,12745	2203	4300	6503	SO:0001583	missense	3613	exon3			TCTGGGGCCAAGT	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.262G>A	18.37:g.12009913G>A	ENSP00000269159:p.Ala88Thr	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	111	55	0.495495	NM_014214	B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	CCDS11855.1	39	0.017857142857142856	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	12.73	2.024554	0.35701	0.05901	1.16E-4	ENSG00000141401	ENST00000269159	T	0.52057	0.68	5.48	3.53	0.40419	.	0.385345	0.27181	N	0.020543	T	0.01940	0.0061	N	0.05259	-0.085	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.02115	-1.1211	10	0.34782	T	0.22	-15.8924	11.554	0.50737	0.0:0.0:0.4818:0.5182	rs16976948;rs16976948	88	O14732	IMPA2_HUMAN	T	88	ENSP00000269159:A88T	ENSP00000269159:A88T	A	+	1	0	IMPA2	11999913	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	4.218000	0.58554	1.274000	0.44362	0.491000	0.48974	GCC	G|0.979;A|0.021	0.021	strong		0.562	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			A	12009913	G	A	12009913	3	1	22	1	0	0	0	0	1	0	0	0	7723	1203	42	2	272	2	IMPA2	18	12009913	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1470139	12009913	66067335	9169	14277										
PTPN2	5771	hgsc.bcm.edu	37	chr18	12817348	12817348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataatgaaagtgagatattGttctggtttcaccactctaa	7	6	3	2	rs78174797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:12817348G>T	ENST00000309660.5	-	6	605	c.512C>A	c.(511-513)aCa>aAa	p.T171K	PTPN2_ENST00000353319.4_Missense_Mutation_p.T171K|PTPN2_ENST00000591497.1_Missense_Mutation_p.T142K|PTPN2_ENST00000591115.1_Missense_Mutation_p.T194K|PTPN2_ENST00000327283.3_Missense_Mutation_p.T171K	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	171	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTGAGATATTGTTCTGGTTTC	0.338													G|||	67	0.0133786	0.0477	0.0043	5008	,	,		17923	0.0		0.001	False		,,,				2504	0.0				p.T194K		Atlas-SNP	.											.	PTPN2	37	.	0			c.C581A						PASS	.	G	LYS/THR,LYS/THR,LYS/THR,LYS/THR	222,4184	119.2+/-156.9	3,216,1984	52	54	53		581,512,512,512	3.1	1	18	dbSNP_131	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	PTPN2	NM_001207013.1,NM_002828.3,NM_080422.2,NM_080423.2	78,78,78,78	3,217,6283	TT,TG,GG		0.0116,5.0386,1.7146	benign,benign,benign,benign	194/411,171/416,171/388,171/354	12817348	223,12783	2203	4300	6503	SO:0001583	missense	5771	exon7			GATATTGTTCTGG	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.512C>A	18.37:g.12817348G>T	ENSP00000311857:p.Thr171Lys	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	252	109	0.43254	NM_001207013	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	G	10.90	1.481893	0.26598	0.050386	1.16E-4	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83419	-1.72;-1.72;-1.72	5.25	3.09	0.35607	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.369486	0.22569	N	0.058367	T	0.14787	0.0357	N	0.21240	0.645	0.31241	N	0.695115	B;B;B;B;B	0.24132	0.025;0.013;0.098;0.055;0.016	B;B;B;B;B	0.18263	0.009;0.008;0.021;0.009;0.014	T	0.50775	-0.8788	10	0.49607	T	0.09	.	4.6107	0.12401	0.1352:0.0:0.4911:0.3736	.	171;171;148;171;171	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	K	171;171;148;171	ENSP00000320298:T171K;ENSP00000320546:T171K;ENSP00000311857:T171K	ENSP00000311857:T171K	T	-	2	0	PTPN2	12807348	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	2.804000	0.47931	1.186000	0.42985	0.591000	0.81541	ACA	G|0.981;T|0.019	0.019	strong		0.338	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		T	12817348	G	T	12817348	3	4	22	1	0	0	0	0	1	0	0	0	12785	1377	48	4	777	4	PTPN2	18	12817348	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	807435	12817348	65259900	9170	14278										
CEP192	55125	hgsc.bcm.edu	37	chr18	13040858	13040858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctattttattagatcaccAgagaagagagaacctattgc	9	7	1	4	rs145309087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13040858A>G	ENST00000325971.8	+	12	1644	c.51A>G	c.(49-51)ccA>ccG	p.P17P	CEP192_ENST00000506447.1_Silent_p.P613P|CEP192_ENST00000430049.2_Silent_p.P138P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	17					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTAGATCACCAGAGAAGAGAG	0.299													A|||	62	0.0123802	0.0439	0.0058	5008	,	,		17505	0.0		0.0	False		,,,				2504	0.0				p.P613P		Atlas-SNP	.											.	CEP192	340	.	0			c.A1839G						PASS	.	A		158,4248	105.2+/-143.6	1,156,2046	67	70	69		1839	0.3	1	18	dbSNP_134	69	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	CEP192	NM_032142.3		1,157,6342	GG,GA,AA		0.0116,3.586,1.2231		613/2538	13040858	159,12841	2203	4297	6500	SO:0001819	synonymous_variant	55125	exon14			ATCACCAGAGAAG	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.51A>G	18.37:g.13040858A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	171	90	0.526316	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																				A|0.987;G|0.013	0.013	strong		0.299	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13040858	A	G	13040858	2	3	22	1	0	0	0	0	0	0	0	1	3251	175	7	3		3	CEP192	18	13040858	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	223510	13040858	65036390	9171	14279										
CEP192	55125	hgsc.bcm.edu	37	chr18	13055915	13055915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacattatcatctattatccAgaataactctgatacaagaa	3	8	3	3	rs11080623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13055915A>C	ENST00000325971.8	+	17	3131	c.1538A>C	c.(1537-1539)cAg>cCg	p.Q513P	CEP192_ENST00000506447.1_Missense_Mutation_p.Q1109P|CEP192_ENST00000430049.2_Missense_Mutation_p.Q634P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	513			Q -> P (in dbSNP:rs11080623).		centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTATTATCCAGAATAACTCT	0.393													A|||	39	0.00778754	0.0008	0.0187	5008	,	,		21179	0.0		0.0239	False		,,,				2504	0.001				p.Q1109P		Atlas-SNP	.											.	CEP192	340	.	0			c.A3326C						PASS	.	A	PRO/GLN	22,4384	28.1+/-56.4	0,22,2181	60	59	59		3326	-0.5	0.1	18	dbSNP_120	59	276,8324	103.6+/-164.7	3,270,4027	yes	missense	CEP192	NM_032142.3	76	3,292,6208	CC,CA,AA		3.2093,0.4993,2.2913	benign	1109/2538	13055915	298,12708	2203	4300	6503	SO:0001583	missense	55125	exon19			TTATCCAGAATAA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1538A>C	18.37:g.13055915A>C	ENSP00000317156:p.Gln513Pro	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		31	0.014194139194139194	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	22	0.029023746701846966	A	9.745	1.165868	0.21538	0.004993	0.032093	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.24538	1.85;1.85;1.85	4.41	-0.462	0.12168	.	0.484808	0.17160	N	0.184713	T	0.06234	0.0161	L	0.47716	1.5	0.09310	N	1	B;B;B	0.17465	0.011;0.011;0.022	B;B;B	0.15484	0.007;0.007;0.013	T	0.19811	-1.0294	10	0.23891	T	0.37	-1.5367	7.8859	0.29651	0.5467:0.3343:0.0:0.119	rs11080623;rs52829180;rs11080623	634;1109;513	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	P	1109;513;513;634	ENSP00000427550:Q1109P;ENSP00000317156:Q513P;ENSP00000389190:Q634P	ENSP00000317156:Q513P	Q	+	2	0	CEP192	13045915	0.013000	0.17824	0.147000	0.22382	0.076000	0.17211	1.283000	0.33237	0.132000	0.18615	0.460000	0.39030	CAG	A|0.980;C|0.020	0.020	strong		0.393	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		C	13055915	A	C	13055915	3	2	22	1	0	0	0	0	1	0	0	0	3251	188	7	5	3396	5	CEP192	18	13055915	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	15057	13055915	65021333	9172	14280										
CEP192	55125	hgsc.bcm.edu	37	chr18	13056065	13056065	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtaggttggacatcaaaccCtgaggaattggacccgatca	12	9	2	1	rs61739695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13056065C>G	ENST00000325971.8	+	17	3281	c.1688C>G	c.(1687-1689)cCt>cGt	p.P563R	CEP192_ENST00000506447.1_Missense_Mutation_p.P1159R|CEP192_ENST00000430049.2_Missense_Mutation_p.P684R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	563					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACATCAAACCCTGAGGAATTG	0.512													C|||	61	0.0121805	0.0446	0.0029	5008	,	,		19222	0.0		0.0	False		,,,				2504	0.0				p.P1159R		Atlas-SNP	.											.	CEP192	340	.	0			c.C3476G						PASS	.	C	ARG/PRO	163,4243	108.2+/-146.6	2,159,2042	47	48	47		3476	0.8	0	18	dbSNP_129	47	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CEP192	NM_032142.3	103	2,160,6341	GG,GC,CC		0.0116,3.6995,1.261	benign	1159/2538	13056065	164,12842	2203	4300	6503	SO:0001583	missense	55125	exon19			CAAACCCTGAGGA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1688C>G	18.37:g.13056065C>G	ENSP00000317156:p.Pro563Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	C	5.196	0.221789	0.09863	0.036995	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05382	3.46;3.45;3.46	4.19	0.836	0.18891	.	1.225170	0.05804	N	0.612700	T	0.00580	0.0019	N	0.16478	0.41	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.003;0.003	T	0.46775	-0.9167	10	0.19147	T	0.46	0.3765	0.6935	0.00895	0.3617:0.2925:0.1361:0.2097	rs61739695	684;1159;563	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	R	1159;563;563;684	ENSP00000427550:P1159R;ENSP00000317156:P563R;ENSP00000389190:P684R	ENSP00000317156:P563R	P	+	2	0	CEP192	13046065	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.012000	0.13287	0.270000	0.21984	0.563000	0.77884	CCT	C|0.986;G|0.014	0.014	strong		0.512	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13056065	C	G	13056065	3	3	22	1	0	0	0	0	1	0	0	0	3251	681	24	4	3546	4	CEP192	18	13056065	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	150	13056065	65021183	9173	14281										
CEP192	55125	hgsc.bcm.edu	37	chr18	13068191	13068191	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtcactcggctagcaggCccttctgtggtcaaccacat	11	13	3	0	rs143595675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13068191C>A	ENST00000325971.8	+	21	4518	c.2925C>A	c.(2923-2925)ggC>ggA	p.G975G	CEP192_ENST00000506447.1_Silent_p.G1571G|CEP192_ENST00000430049.2_Silent_p.G1096G			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	975					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTAGCAGGCCCTTCTGTGG	0.498													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		16806	0.0		0.0	False		,,,				2504	0.0				p.G1571G		Atlas-SNP	.											.	CEP192	340	.	0			c.C4713A						PASS	.	C		51,4355	52.3+/-87.9	0,51,2152	72	74	73		4713	-5.3	0	18	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP192	NM_032142.3		0,52,6451	AA,AC,CC		0.0116,1.1575,0.3998		1571/2538	13068191	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	55125	exon23			AGCAGGCCCTTCT	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2925C>A	18.37:g.13068191C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	110	55	0.5	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																				C|0.996;A|0.004	0.004	strong		0.498	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		A	13068191	C	A	13068191	2	1	22	1	0	0	0	0	0	0	0	1	3251	726	26	4		4	CEP192	18	13068191	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12126	13068191	65009057	9174	14282										
C18orf1	753	hgsc.bcm.edu	37	chr18	13645310	13645310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgcaccctgcagctccGggaccctgaacagcagatgg	12	16	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13645310G>A	ENST00000359446.5	+	6	1043	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R115Q|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R155Q|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R94Q|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R137Q|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R174Q|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R192Q	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	192					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CTGCAGCTCCGGGACCCTGAA	0.552																																					p.R174Q		Atlas-SNP	.											C18orf1_ENST00000359446,NS,carcinoma,0,2	.	.	2	0			c.G521A						scavenged	.						78	86	83					18																	13645310		2203	4300	6503	SO:0001583	missense	753	exon6			AGCTCCGGGACCC	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.575G>A	18.37:g.13645310G>A	ENSP00000352420:p.Arg192Gln	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	108	3	0.0277778	NM_181482	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495195	0.96355	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.59906	0.39;0.23	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.993;0.996;0.993;0.996;0.998;0.996	D	0.83584	0.0119	10	0.87932	D	0	-2.3937	18.1744	0.89757	0.0:0.0:1.0:0.0	.	116;134;137;155;174;192	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	Q	192;174;155;137;134;116	ENSP00000354753:R192Q;ENSP00000382741:R174Q	ENSP00000352420:R155Q	R	+	2	0	C18orf1	13635310	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.480000	0.97931	2.304000	0.77564	0.655000	0.94253	CGG	.	.	none		0.552	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		A	13645310	G	A	13645310	3	1	22	1	0	0	0	0	1	0	0	0	1894	1116	39	1	674	1	C18orf1	18	13645310	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	577119	13645310	64431938	9175	14283										
MC5R	4161	hgsc.bcm.edu	37	chr18	13826139	13826139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactccatgatctgcatttcCgtggtggcatccatgtgcag	11	11	1	1	rs45613135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:13826139C>T	ENST00000324750.3	+	1	597	c.375C>T	c.(373-375)tcC>tcT	p.S125S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	125					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCTGCATTTCCGTGGTGGCAT	0.522													C|||	5	0.000998403	0.0	0.0	5008	,	,		25904	0.0		0.003	False		,,,				2504	0.002				p.S125S		Atlas-SNP	.											.	MC5R	83	.	0			c.C375T						PASS	.	C		10,4396	16.8+/-37.8	0,10,2193	139	117	125		375	-6.4	0.9	18	dbSNP_127	125	95,8505	52.7+/-113.3	0,95,4205	no	coding-synonymous	MC5R	NM_005913.2		0,105,6398	TT,TC,CC		1.1047,0.227,0.8073		125/326	13826139	105,12901	2203	4300	6503	SO:0001819	synonymous_variant	4161	exon1			CATTTCCGTGGTG	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.375C>T	18.37:g.13826139C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	219	97	0.442922	NM_005913	B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	CCDS11868.1																																																																																			C|0.994;T|0.006	0.006	strong		0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826139	C	T	13826139	2	4	22	1	0	0	0	0	0	0	0	1	9367	639	23	1		1	MC5R	18	13826139	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180829	13826139	64251109	9176	14284										
ZNF519	162655	hgsc.bcm.edu	37	chr18	14106039	14106039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactatgatgtttactaataTttgagtcatggttaaaattt	6	3	1	2	rs62086326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:14106039T>C	ENST00000590202.1	-	3	652	c.500A>G	c.(499-501)aAt>aGt	p.N167S	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	167				N -> D (in Ref. 2; AAH24227). {ECO:0000305}.	negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TTTACTAATATTTGAGTCATG	0.259													T|||	967	0.193091	0.0136	0.281	5008	,	,		17985	0.2381		0.2525	False		,,,				2504	0.2658				p.N167S		Atlas-SNP	.											.	ZNF519	53	.	0			c.A500G						PASS	.	T	SER/ASN	213,4087		9,195,1946	24	26	25		500	0.3	0	18	dbSNP_129	25	2065,6437		285,1495,2471	yes	missense	ZNF519	NM_145287.3	46	294,1690,4417	CC,CT,TT		24.2884,4.9535,17.7941	benign	167/541	14106039	2278,10524	2150	4251	6401	SO:0001583	missense	162655	exon3			CTAATATTTGAGT	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.500A>G	18.37:g.14106039T>C	ENSP00000464872:p.Asn167Ser	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	44	17	0.386364	NM_145287		Missense_Mutation	SNP	ENST00000590202.1	37	CCDS32797.1	450	0.20604395604395603	12	0.024390243902439025	103	0.2845303867403315	142	0.24825174825174826	193	0.2546174142480211	T	0.005	-2.137334	0.00335	0.049535	0.242884	ENSG00000175322	ENST00000309305	.	.	.	0.328	0.328	0.15918	.	.	.	.	.	T	0.00012	0.0000	N	0.05199	-0.095	0.80722	P	0.0	B	0.30526	0.283	B	0.29176	0.099	T	0.38436	-0.9661	7	0.08381	T	0.77	.	5.0724	0.14613	0.0:2.0E-4:0.0:0.9998	rs62086326	167	Q8TB69	ZN519_HUMAN	S	167	.	ENSP00000307908:N167S	N	-	2	0	ZNF519	14096039	0.000000	0.05858	0.010000	0.14722	0.252000	0.25951	-1.143000	0.03200	0.367000	0.24454	0.076000	0.15429	AAT	T|0.799;C|0.201	0.201	strong		0.259	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		C	14106039	T	C	14106039	3	2	22	1	0	0	0	0	1	0	0	0	17961	1493	52	2	1126	2	ZNF519	18	14106039	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	279900	14106039	63971209	9177	14285										
C18orf45	85019	hgsc.bcm.edu	37	chr18	20953720	20953720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctgctgcggccaggaggaGgagggcactgtggagaggga	20	8	0	1	rs8099409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:20953720G>A	ENST00000383233.3	-	7	443	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	TMEM241_ENST00000542162.1_Missense_Mutation_p.L131F|TMEM241_ENST00000450466.2_Missense_Mutation_p.L10F	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	131			L -> F (in dbSNP:rs8099409). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)											GCCAGGAGGAGGAGGGCACTG	0.498													A|||	2056	0.410543	0.4735	0.3184	5008	,	,		23579	0.4147		0.4881	False		,,,				2504	0.3067				p.L131F		Atlas-SNP	.											.	.	.	.	0			c.C391T						PASS	.	A	PHE/LEU	2128,2278	598.1+/-389.0	521,1086,596	100	96	98		391	3.6	1	18	dbSNP_116	98	4231,4369	581.9+/-391.3	1069,2093,1138	yes	missense	C18orf45	NM_032933.4	22	1590,3179,1734	AA,AG,GG		49.1977,48.2978,48.8928	benign	131/297	20953720	6359,6647	2203	4300	6503	SO:0001583	missense	85019	exon7			GGAGGAGGAGGGC	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.391C>T	18.37:g.20953720G>A	ENSP00000372720:p.Leu131Phe	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	60	31	0.516667	NM_032933	I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	CCDS11876.2	988|988	0.4523809523809524|0.4523809523809524	245|245	0.49796747967479676|0.49796747967479676	136|136	0.3756906077348066|0.3756906077348066	228|228	0.3986013986013986|0.3986013986013986	379|379	0.5|0.5	A|A	10.86|10.86	1.468430|1.468430	0.26335|0.26335	0.482978|0.482978	0.491977|0.491977	ENSG00000134490|ENSG00000134490	ENST00000450466;ENST00000383233;ENST00000542162|ENST00000497608	T;T;T|.	0.76448|.	1.05;1.05;-1.02|.	5.99|5.99	3.62|3.62	0.41486|0.41486	.|.	0.258118|.	0.34460|.	N|.	0.003958|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	P|P	0.9999999999782435|0.9999999999782435	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.45833|0.45833	-0.9234|-0.9234	9|4	0.28530|.	T|.	0.3|.	-25.2792|-25.2792	7.6304|7.6304	0.28236|0.28236	0.7613:0.0:0.2387:0.0|0.7613:0.0:0.2387:0.0	rs8099409;rs52817169;rs59773270;rs8099409|rs8099409;rs52817169;rs59773270;rs8099409	131|.	Q24JQ0|.	CR045_HUMAN|.	F|L	10;131;131|130	ENSP00000414899:L10F;ENSP00000372720:L131F;ENSP00000440152:L131F|.	ENSP00000372720:L131F|.	L|P	-|-	1|2	0|0	C18orf45|C18orf45	19207718|19207718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.754000|0.754000	0.42855|0.42855	2.411000|2.411000	0.44600|0.44600	0.171000|0.171000	0.19730|0.19730	-0.982000|-0.982000	0.02568|0.02568	CTC|CCT	G|0.541;A|0.459	0.459	strong		0.498	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		A	20953720	G	A	20953720	3	1	22	1	0	0	0	0	1	0	0	0	1903	1000	35	2	535	2	C18orf45	18	20953720	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6847681	20953720	57123528	9178	14286										
LAMA3	3909	hgsc.bcm.edu	37	chr18	21447864	21447864	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaccggctgcatcatggaCgagtgcacgtggtcgaggta	15	10	1	1	rs552326056		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:21447864C>T	ENST00000313654.9	+	37	4991	c.4750C>T	c.(4750-4752)Cga>Tga	p.R1584*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R1584*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1584	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCATCATGGACGAGTGCACGT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		15269	0.001		0.0	False		,,,				2504	0.0				p.R1584X		Atlas-SNP	.											LAMA3,NS,carcinoma,-1,2	LAMA3	397	2	0			c.C4750T						scavenged	.						134	139	137					18																	21447864		1997	4175	6172	SO:0001587	stop_gained	3909	exon37			CATGGACGAGTGC	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4750C>T	18.37:g.21447864C>T	ENSP00000324532:p.Arg1584*	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	107	2	0.0186916	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	42	9.415914	0.99164	.	.	ENSG00000053747	ENST00000313654;ENST00000399516	.	.	.	5.45	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.25940	N	0.982889	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.926	0.35641	0.3872:0.5452:0.0:0.0676	.	.	.	.	X	1584	.	ENSP00000324532:R1584X	R	+	1	2	LAMA3	19701862	0.615000	0.27026	0.014000	0.15608	0.309000	0.27889	1.093000	0.30939	0.281000	0.22233	0.655000	0.94253	CGA	.	.	none		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21447864	C	T	21447864	4	4	22	1	0	0	0	0	0	1	0	0	8607	528	19	1	4896	1	LAMA3	18	21447864	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	494144	21447864	56629384	9179	14287										
CABYR	26256	hgsc.bcm.edu	37	chr18	21736486	21736486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaaatgagcagtcaccaCgagttagtcccaaatctgta	8	9	2	2	rs35554127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:21736486C>T	ENST00000399481.2	+	2	879	c.727C>T	c.(727-729)Cga>Tga	p.R243*	RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	341					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GCAGTCACCACGAGTTAGTCC	0.378													C|||	71	0.0141773	0.0537	0.0	5008	,	,		21641	0.0		0.0	False		,,,				2504	0.0				p.R341X		Atlas-SNP	.											.	CABYR	51	.	0			c.C1021T						PASS	.	C	stop/ARG,,,stop/ARG,,	194,4212	118.8+/-156.5	3,188,2012	60	63	62		1021,,,967,,	3.4	1	18	dbSNP_126	62	0,8600		0,0,4300	yes	stop-gained,intron,intron,stop-gained,intron,intron	CABYR	NM_012189.2,NM_138643.1,NM_138644.1,NM_153768.1,NM_153769.1,NM_153770.1	,,,,,	3,188,6312	TT,TC,CC		0.0,4.4031,1.4916	,,,,,	341/494,,,323/476,,	21736486	194,12812	2203	4300	6503	SO:0001587	stop_gained	26256	exon4			TCACCACGAGTTA	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.727C>T	18.37:g.21736486C>T	ENSP00000382404:p.Arg243*	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_012189	B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Nonsense_Mutation	SNP	ENST00000399481.2	37		26	0.011904761904761904	26	0.052845528455284556	0	0.0	0	0.0	0	0.0	C	23.4	4.416434	0.83449	0.044031	0.0	ENSG00000154040	ENST00000399481	.	.	.	5.31	3.39	0.38822	.	0.460245	0.20298	N	0.095093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.8475	6.5485	0.22420	0.0:0.784:0.0:0.216	rs35554127	.	.	.	X	243	.	.	R	+	1	2	CABYR	19990484	0.415000	0.25416	0.972000	0.41901	0.862000	0.49288	0.095000	0.15127	1.466000	0.48025	0.655000	0.94253	CGA	C|0.986;T|0.014	0.014	strong		0.378	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		T	21736486	C	T	21736486	4	4	22	1	0	0	0	0	0	1	0	0	2536	528	19	1	1031	1	CABYR	18	21736486	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288622	21736486	56340762	9180	14288										
CABYR	114876	hgsc.bcm.edu	37	chr18	21740032	21740033	+	IGR	DEL	TG	TG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaagcagaaactgaaaacTggtaggtacactttcctacc					rs149126027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:21740032_21740033delTG	ENST00000319481.3	-	0	4195				RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_3'UTR|CABYR_ENST00000581397.1_3'UTR|CABYR_ENST00000399496.3_3'UTR|CABYR_ENST00000399499.1_3'UTR|CABYR_ENST00000415309.2_3'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AACTGAAAACTGGTAGGTACAC	0.406														131	0.0261581	0.0976	0.0029	5008	,	,		21848	0.0		0.0	False		,,,				2504	0.0				p.379_380del		Pindel,Atlas-Indel	.											.	CABYR	51	.	0			c.1137_1138del						PASS	.		,,,,,	310,3948		19,272,1838					,,,,,	2.1	1		dbSNP_134	57	0,8248		0,0,4124	no	frameshift-near-splice,frameshift-near-splice,utr-3,frameshift-near-splice,frameshift-near-splice,utr-3	CABYR	NM_153770.1,NM_153769.1,NM_153768.1,NM_138644.1,NM_138643.1,NM_012189.2	,,,,,	19,272,5962	A1A1,A1R,RR		0.0,7.2804,2.4788	,,,,,	,,,,,		310,12196				SO:0001628	intergenic_variant	26256	exon5			.	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21740032_21740033delTG		Somatic	57	.	.		WXS	Illumina HiSeq	Phase_I	77	26	0.338	NM_153769	B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	CCDS11884.1																																																																																			TG|0.978;-|0.022	0.022	strong		0.406	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		-	21740033	TG	-	21740032	6	5	22	0	1	1	0	1	0	0	0	0	2536	1594	55	0		0	CABYR	18	21740032	IGR	DEL	TG	TCGA-G8-6324-01A-11D-2210-10	3546	21740032	56337216	9181	14289										
OSBPL1A	114876	hgsc.bcm.edu	37	chr18	21752366	21752366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttataatttccacattgccAtactgttcgatccacagttt	4	10	0	0	rs2077984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:21752366A>G	ENST00000319481.3	-	22	2381	c.2175T>C	c.(2173-2175)taT>taC	p.Y725Y	OSBPL1A_ENST00000357041.4_Silent_p.Y343Y|RNA5SP452_ENST00000363004.1_RNA|OSBPL1A_ENST00000399443.3_Silent_p.Y212Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	725					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCACATTGCCATACTGTTCGA	0.388													G|||	605	0.120807	0.3222	0.0317	5008	,	,		19396	0.0724		0.0169	False		,,,				2504	0.0685				p.Y725Y		Atlas-SNP	.											.	OSBPL1A	94	.	0			c.T2175C						PASS	.	G	,,	1165,3241	712.6+/-408.1	158,849,1196	204	178	187		1029,636,2175	-8.7	0.5	18	dbSNP_96	187	126,8474	813.9+/-407.0	0,126,4174	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	,,	158,975,5370	GG,GA,AA		1.4651,26.4412,9.9262	,,	343/569,212/438,725/951	21752366	1291,11715	2203	4300	6503	SO:0001819	synonymous_variant	114876	exon22			ATTGCCATACTGT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2175T>C	18.37:g.21752366A>G		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	124	52	0.419355	NM_080597	B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																			A|0.894;G|0.106	0.106	strong		0.388	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		G	21752366	A	G	21752366	2	3	22	1	0	0	0	0	0	0	0	1	11277	224	8	2		2	OSBPL1A	18	21752366	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12334	21752366	56324882	9182	14290										
ZNF521	25925	hgsc.bcm.edu	37	chr18	22775185	22775185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtagaaaaccatctgacaCttgatgcattgataggtctt	8	7	2	4	rs1140026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:22775185C>T	ENST00000361524.3	-	5	3745	c.3597G>A	c.(3595-3597)aaG>aaA	p.K1199K	ZNF521_ENST00000584787.1_Silent_p.K979K|ZNF521_ENST00000538137.2_Silent_p.K1199K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1199					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCATCTGACACTTGATGCATT	0.323			T	PAX5	ALL								C|||	1135	0.226637	0.1316	0.2089	5008	,	,		19650	0.2768		0.2535	False		,,,				2504	0.2883				p.K1199K		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.G3597A						PASS	.	C		631,3773	271.6+/-270.3	33,565,1604	145	126	133		3597	5.6	1	18	dbSNP_86	133	2084,6516	357.9+/-330.9	254,1576,2470	no	coding-synonymous	ZNF521	NM_015461.2		287,2141,4074	TT,TC,CC		24.2326,14.3279,20.8782		1199/1312	22775185	2715,10289	2202	4300	6502	SO:0001819	synonymous_variant	25925	exon5			CTGACACTTGATG	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3597G>A	18.37:g.22775185C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																			C|0.786;T|0.214	0.214	strong		0.323	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22775185	C	T	22775185	2	4	22	1	0	0	0	0	0	0	0	1	17962	564	20	2		2	ZNF521	18	22775185	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1022819	22775185	55302063	9183	14291										
TAF4B	6875	hgsc.bcm.edu	37	chr18	23873463	23873463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatctcctactcagaaaaaTagaataaaagagaatgtaac	6	7	2	3	rs1677016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:23873463T>C	ENST00000269142.5	+	9	2798	c.1800T>C	c.(1798-1800)aaT>aaC	p.N600N	TAF4B_ENST00000578121.1_Silent_p.N605N|TAF4B_ENST00000400466.2_Silent_p.N600N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	600					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CTCAGAAAAATAGAATAAAAG	0.284													T|||	2544	0.507987	0.093	0.5461	5008	,	,		15568	0.7996		0.5696	False		,,,				2504	0.6779				p.N600N		Atlas-SNP	.											TAF4B,NS,carcinoma,+1,1	TAF4B	71	1	0			c.T1800C						PASS	.	T		635,2935		62,511,1212	40	38	39		1800	-0.6	1	18	dbSNP_89	39	4680,3428		1350,1980,724	no	coding-synonymous	TAF4B	NM_005640.1		1412,2491,1936	CC,CT,TT		42.2792,17.7871,45.5129		600/863	23873463	5315,6363	1785	4054	5839	SO:0001819	synonymous_variant	6875	exon9			GAAAAATAGAATA	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1800T>C	18.37:g.23873463T>C		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	236	126	0.533898	NM_005640	Q29YA4|Q29YA5	Silent	SNP	ENST00000269142.5	37	CCDS42421.1																																																																																			T|0.474;C|0.526	0.526	strong		0.284	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		C	23873463	T	C	23873463	2	2	22	1	0	0	0	0	0	0	0	1	15524	1403	49	2		2	TAF4B	18	23873463	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1098278	23873463	54203785	9184	14292										
CDH2	1000	hgsc.bcm.edu	37	chr18	25532304	25532304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtggagctgtggggtcaTtgtcagccgctttaaggccc	15	9	2	0	rs2289664	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:25532304T>C	ENST00000269141.3	-	16	2957	c.2534A>G	c.(2533-2535)aAt>aGt	p.N845S	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.N814S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	845			N -> S (in dbSNP:rs2289664).		adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTGGGGTCATTGTCAGCCGC	0.448											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	106	0.0211661	0.0015	0.013	5008	,	,		17916	0.0139		0.0338	False		,,,				2504	0.0481				p.N845S		Atlas-SNP	.											.	CDH2	194	.	0			c.A2534G						PASS	.	T	SER/ASN	31,4375	37.6+/-69.7	0,31,2172	90	87	88		2534	5.5	1	18	dbSNP_100	88	229,8371	94.2+/-156.2	3,223,4074	yes	missense	CDH2	NM_001792.3	46	3,254,6246	CC,CT,TT		2.6628,0.7036,1.9991	possibly-damaging	845/907	25532304	260,12746	2203	4300	6503	SO:0001583	missense	1000	exon16			GGGTCATTGTCAG	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2534A>G	18.37:g.25532304T>C	ENSP00000269141:p.Asn845Ser	Somatic	103	0	0	779	WXS	Illumina HiSeq	Phase_I	106	51	0.481132	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	38	0.0173992673992674	1	0.0020325203252032522	4	0.011049723756906077	9	0.015734265734265736	24	0.0316622691292876	T	10.82	1.458477	0.26248	0.007036	0.026628	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.77098	-1.07;-1.07	5.53	5.53	0.82687	Cadherin, cytoplasmic domain (1);	0.046462	0.85682	D	0.000000	T	0.64316	0.2587	L	0.39633	1.23	0.45452	D	0.998429	D;B	0.55385	0.971;0.251	D;B	0.64506	0.926;0.133	T	0.73180	-0.4064	10	0.28530	T	0.3	.	15.6593	0.77169	0.0:0.0:0.0:1.0	rs2289664;rs17445545;rs52812881;rs2289664	814;845	A8MWK3;P19022	.;CADH2_HUMAN	S	845;814	ENSP00000269141:N845S;ENSP00000382312:N814S	ENSP00000269141:N845S	N	-	2	0	CDH2	23786302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.076000	0.57591	2.095000	0.63458	0.482000	0.46254	AAT	T|0.980;C|0.020	0.020	strong		0.448	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25532304	T	C	25532304	3	2	22	1	0	0	0	0	1	0	0	0	3105	1493	52	2	190	2	CDH2	18	25532304	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1658841	25532304	52544944	9185	14293										
DSC3	1825	hgsc.bcm.edu	37	chr18	28586964	28586964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctccatggacaggttcatcAggatcaacagctaaaatgtc	9	10	3	0	rs1313586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28586964A>G	ENST00000360428.4	-	12	1877	c.1797T>C	c.(1795-1797)ccT>ccC	p.P599P	DSC3_ENST00000434452.1_Silent_p.P599P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	599	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.P599P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAGGTTCATCAGGATCAACAG	0.368													G|||	2976	0.594249	0.8268	0.3833	5008	,	,		14919	0.7917		0.3121	False		,,,				2504	0.5164				p.P599P		Atlas-SNP	.											DSC3,NS,carcinoma,0,1	DSC3	225	1	1	Substitution - coding silent(1)	stomach(1)	c.T1797C						PASS	.	G	,	3339,1067	388.6+/-327.0	1275,789,139	118	113	115		1797,1797	-10.2	0	18	dbSNP_87	115	2767,5833	679.2+/-403.5	434,1899,1967	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	1709,2688,2106	GG,GA,AA		32.1744,24.217,46.9476	,	599/897,599/840	28586964	6106,6900	2203	4300	6503	SO:0001819	synonymous_variant	1825	exon12			TTCATCAGGATCA	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1797T>C	18.37:g.28586964A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_024423	A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																			A|0.478;G|0.521	0.521	strong		0.368	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		G	28586964	A	G	28586964	2	3	22	1	0	0	0	0	0	0	0	1	4767	175	7	3		3	DSC3	18	28586964	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3054660	28586964	49490284	9186	14294										
DSC3	1825	hgsc.bcm.edu	37	chr18	28610988	28610988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctttctgtgtctgtttcCttttgtcagaaagccatatg	7	10	4	1	rs276938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28610988C>T	ENST00000360428.4	-	3	385	c.305G>A	c.(304-306)aGg>aAg	p.R102K	DSC3_ENST00000434452.1_Missense_Mutation_p.R102K	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	102			R -> K (in dbSNP:rs276938).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTGTTTCCTTTTGTCAGA	0.363													C|||	2181	0.435503	0.32	0.3401	5008	,	,		15601	0.6776		0.3549	False		,,,				2504	0.4928				p.R102K		Atlas-SNP	.											.	DSC3	225	.	0			c.G305A						PASS	.	C	LYS/ARG,LYS/ARG	1498,2908	474.4+/-357.0	253,992,958	102	92	95		305,305	1.6	0	18	dbSNP_79	95	2760,5840	437.2+/-358.5	443,1874,1983	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	26,26	696,2866,2941	TT,TC,CC		32.093,33.9991,32.7387	benign,benign	102/897,102/840	28610988	4258,8748	2203	4300	6503	SO:0001583	missense	1825	exon3			TGTTTCCTTTTGT	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.305G>A	18.37:g.28610988C>T	ENSP00000353608:p.Arg102Lys	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_024423	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	941	0.4308608058608059	161	0.32723577235772355	127	0.35082872928176795	393	0.6870629370629371	260	0.34300791556728233	C	2.166	-0.391109	0.04932	0.339991	0.32093	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60299	0.2;0.2	5.28	1.64	0.23874	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.01800	-0.715	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.38564	-0.9655	8	0.32370	T	0.25	.	5.0997	0.14753	0.0:0.1586:0.2902:0.5512	rs276938;rs1098250;rs1303279;rs52831455;rs58484203;rs276938	102;102	Q14574;Q14574-2	DSC3_HUMAN;.	K	102	ENSP00000353608:R102K;ENSP00000392068:R102K	ENSP00000353608:R102K	R	-	2	0	DSC3	26864986	0.013000	0.17824	0.014000	0.15608	0.005000	0.04900	1.229000	0.32600	0.134000	0.18681	-1.224000	0.01588	AGG	T|0.384;G|0.001	0.384	strong		0.363	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28610988	C	T	28610988	3	4	22	1	0	0	0	0	1	0	0	0	4767	681	24	2	2472	2	DSC3	18	28610988	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24024	28610988	49466260	9187	14295										
DSC3	1825	hgsc.bcm.edu	37	chr18	28611061	28611061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctggctgtgtacactgAcccatcatttagaactctga	8	12	2	3	rs276937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28611061A>T	ENST00000360428.4	-	3	312	c.232T>A	c.(232-234)Tca>Aca	p.S78T	DSC3_ENST00000434452.1_Missense_Mutation_p.S78T	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	78			S -> T (in dbSNP:rs276937).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTGTACACTGACCCATCATTT	0.413													A|||	2178	0.434904	0.3132	0.3401	5008	,	,		13475	0.6835		0.3549	False		,,,				2504	0.4928				p.S78T		Atlas-SNP	.											.	DSC3	225	.	0			c.T232A						PASS	.	A	THR/SER,THR/SER	1465,2941	469.0+/-355.3	240,985,978	73	65	67		232,232	2.8	0	18	dbSNP_79	67	2764,5836	439.1+/-359.1	443,1878,1979	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	58,58	683,2863,2957	TT,TA,AA		32.1395,33.2501,32.5158	possibly-damaging,possibly-damaging	78/897,78/840	28611061	4229,8777	2203	4300	6503	SO:0001583	missense	1825	exon3			ACACTGACCCATC	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.232T>A	18.37:g.28611061A>T	ENSP00000353608:p.Ser78Thr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	90	89	0.988889	NM_024423	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	942	0.43131868131868134	158	0.32113821138211385	127	0.35082872928176795	397	0.6940559440559441	260	0.34300791556728233	A	8.716	0.913305	0.17907	0.332501	0.321395	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.38560	1.13;1.13	5.26	2.83	0.33086	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.62266	1.93	0.58432	P	5.000000000032756E-6	B;P	0.38335	0.267;0.627	B;B	0.40940	0.344;0.329	T	0.36696	-0.9737	8	0.26408	T	0.33	.	7.2036	0.25895	0.7754:0.147:0.0776:0.0	rs276937;rs1098249;rs1303278;rs1602889;rs17799213;rs52793945;rs59695561;rs276937	78;78	Q14574;Q14574-2	DSC3_HUMAN;.	T	78	ENSP00000353608:S78T;ENSP00000392068:S78T	ENSP00000353608:S78T	S	-	1	0	DSC3	26865059	0.998000	0.40836	0.005000	0.12908	0.004000	0.04260	3.054000	0.49908	0.442000	0.26555	-0.256000	0.11100	TCA	A|0.626;T|0.374	0.374	strong		0.413	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28611061	A	T	28611061	3	4	22	1	0	0	0	0	1	0	0	0	4767	275	10	5	2545	5	DSC3	18	28611061	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	73	28611061	49466187	9188	14296										
DSC2	1824	hgsc.bcm.edu	37	chr18	28681903	28681903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccggcagagggctccgTtccaggagccggaggggcgg	20	12	0	1	rs868333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28681903T>C	ENST00000280904.6	-	1	475	c.32A>G	c.(31-33)aAc>aGc	p.N11S	RP11-408H20.2_ENST00000581836.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.N11S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	11			N -> S (in dbSNP:rs868333). {ECO:0000269|PubMed:20031617}.		bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GAGGGCTCCGTTCCAGGAGCC	0.751													C|||	428	0.0854633	0.3116	0.0216	5008	,	,		8187	0.001		0.0	False		,,,				2504	0.0				p.N11S		Atlas-SNP	.											.	DSC2	168	.	0			c.A32G						PASS	.						1	2	2					18																	28681903		1051	2094	3145	SO:0001583	missense	1824	exon1			GCTCCGTTCCAGG	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.32A>G	18.37:g.28681903T>C	ENSP00000280904:p.Asn11Ser	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	10	5	0.5	NM_024422		Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	169	0.07738095238095238	156	0.3170731707317073	7	0.019337016574585635	5	0.008741258741258742	1	0.0013192612137203166	C	7.222	0.597497	0.13875	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57107	0.45;0.42	4.55	3.59	0.41128	.	.	.	.	.	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38001	-0.9681	8	0.02654	T	1	.	4.9282	0.13903	0.2229:0.6676:0.0:0.1095	rs868333	11;11	Q02487;Q02487-2	DSC2_HUMAN;.	S	11	ENSP00000251081:N11S;ENSP00000280904:N11S	ENSP00000251081:N11S	N	-	2	0	DSC2	26935901	0.000000	0.05858	0.506000	0.27664	0.417000	0.31264	0.324000	0.19610	1.139000	0.42245	-0.186000	0.12905	AAC	T|0.923;C|0.077	0.077	strong		0.751	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		C	28681903	T	C	28681903	3	2	22	1	0	0	0	0	1	0	0	0	4766	1725	60	2	2777	2	DSC2	18	28681903	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	70842	28681903	49395345	9189	14297										
DSC1	1823	hgsc.bcm.edu	37	chr18	28710615	28710615	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgccttcatagttataCgaacaaacgtagtcttcaca	5	11	3	0	rs1816634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28710615C>A	ENST00000257198.5	-	16	2808	c.2547G>T	c.(2545-2547)tcG>tcT	p.S849S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	849					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATAGTTATACGAACAAACGT	0.418													C|||	465	0.0928514	0.2542	0.0533	5008	,	,		18467	0.0		0.0467	False		,,,				2504	0.046				p.S849S		Atlas-SNP	.											.	DSC1	240	.	0			c.G2547T						PASS	.	C	,	886,3520	344.1+/-307.9	88,710,1405	133	134	134		,2547	-12.3	0	18	dbSNP_92	134	344,8256	118.1+/-177.6	6,332,3962	no	utr-3,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	94,1042,5367	AA,AC,CC		4.0,20.1089,9.4572	,	,849/895	28710615	1230,11776	2203	4300	6503	SO:0001819	synonymous_variant	1823	exon16			GTTATACGAACAA	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2547G>T	18.37:g.28710615C>A		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	256	105	0.410156	NM_024421	Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																			C|0.914;A|0.086	0.086	strong		0.418	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28710615	C	A	28710615	2	1	22	1	0	0	0	0	0	0	0	1	4765	523	19	4		4	DSC1	18	28710615	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28712	28710615	49366633	9190	14298										
DSC1	1823	hgsc.bcm.edu	37	chr18	28712639	28712639	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagcagtgacacagaaacaTgtaaacagaatacctaaaaa	6	7	0	3	rs16961338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28712639T>C	ENST00000257198.5	-	14	2391	c.2130A>G	c.(2128-2130)acA>acG	p.T710T	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.T710T|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	710					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACAGAAACATGTAAACAGAA	0.318													T|||	149	0.0297524	0.1097	0.0058	5008	,	,		17598	0.0		0.0	False		,,,				2504	0.0				p.T710T		Atlas-SNP	.											.	DSC1	240	.	0			c.A2130G						PASS	.	T	,	391,4013	195.7+/-220.2	15,361,1826	76	72	73		2130,2130	-3.4	1	18	dbSNP_123	73	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	15,363,6124	CC,CT,TT		0.0233,8.8783,3.0221	,	710/841,710/895	28712639	393,12611	2202	4300	6502	SO:0001819	synonymous_variant	1823	exon14			GAAACATGTAAAC	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2130A>G	18.37:g.28712639T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_004948	Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																			T|0.959;C|0.041	0.041	strong		0.318	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		C	28712639	T	C	28712639	2	2	22	1	0	0	0	0	0	0	0	1	4765	1451	51	2		2	DSC1	18	28712639	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2024	28712639	49364609	9191	14299										
DSC1	1823	hgsc.bcm.edu	37	chr18	28722039	28722039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccattttcatttccttgtaGgattttgtatacagcctttg	6	8	1	0	rs2577075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28722039G>A	ENST00000257198.5	-	9	1444	c.1183C>T	c.(1183-1185)Cta>Tta	p.L395L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.L395L	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	395	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCCTTGTAGGATTTTGTAT	0.363													G|||	1726	0.344649	0.4085	0.3746	5008	,	,		16726	0.5655		0.2127	False		,,,				2504	0.1452				p.L395L		Atlas-SNP	.											.	DSC1	240	.	0			c.C1183T						PASS	.	G	,	1770,2636	524.7+/-371.4	357,1056,790	169	169	169		1183,1183	3.7	1	18	dbSNP_100	169	1610,6990	299.8+/-304.6	161,1288,2851	no	coding-synonymous,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	518,2344,3641	AA,AG,GG		18.7209,40.1725,25.988	,	395/841,395/895	28722039	3380,9626	2203	4300	6503	SO:0001819	synonymous_variant	1823	exon9			CTTGTAGGATTTT	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1183C>T	18.37:g.28722039G>A		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	226	96	0.424779	NM_004948	Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																			G|0.696;A|0.304	0.304	strong		0.363	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28722039	G	A	28722039	2	1	22	1	0	0	0	0	0	0	0	1	4765	991	35	2		2	DSC1	18	28722039	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9400	28722039	49355209	9192	14300										
DSC1	1823	hgsc.bcm.edu	37	chr18	28722103	28722103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatcctgtaccttcattcgTaaaatctccacgtcaattct	4	12	4	1	rs2577074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28722103T>C	ENST00000257198.5	-	9	1380	c.1119A>G	c.(1117-1119)ttA>ttG	p.L373L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.L373L	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	373	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTTCATTCGTAAAATCTCCA	0.338													T|||	1726	0.344649	0.4085	0.3746	5008	,	,		17144	0.5655		0.2127	False		,,,				2504	0.1452				p.L373L		Atlas-SNP	.											.	DSC1	240	.	0			c.A1119G						PASS	.	T	,	1771,2635	525.1+/-371.5	357,1057,789	167	154	158		1119,1119	0	1	18	dbSNP_100	158	1611,6989	300.2+/-304.8	160,1291,2849	no	coding-synonymous,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	517,2348,3638	CC,CT,TT		18.7326,40.1952,26.0034	,	373/841,373/895	28722103	3382,9624	2203	4300	6503	SO:0001819	synonymous_variant	1823	exon9			CATTCGTAAAATC	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1119A>G	18.37:g.28722103T>C		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	208	101	0.485577	NM_004948	Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																			T|0.690;C|0.310	0.310	strong		0.338	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		C	28722103	T	C	28722103	2	2	22	1	0	0	0	0	0	0	0	1	4765	1635	57	2		2	DSC1	18	28722103	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	64	28722103	49355145	9193	14301										
DSG1	1828	hgsc.bcm.edu	37	chr18	28908178	28908178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagattgtgctgcaaaccaGcaagttacataccgcatctc	7	12	2	1	rs74368609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28908178G>C	ENST00000257192.4	+	4	455	c.243G>C	c.(241-243)caG>caC	p.Q81H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGCAAACCAGCAAGTTACAT	0.368													G|||	26	0.00519169	0.0189	0.0014	5008	,	,		19822	0.0		0.0	False		,,,				2504	0.0				p.Q81H		Atlas-SNP	.											.	DSG1	176	.	0			c.G243C						PASS	.	G	HIS/GLN	97,4309	78.8+/-117.2	0,97,2106	92	89	90		243	2.8	1	18	dbSNP_131	90	0,8598		0,0,4299	yes	missense	DSG1	NM_001942.2	24	0,97,6405	CC,CG,GG		0.0,2.2015,0.7459	probably-damaging	81/1050	28908178	97,12907	2203	4299	6502	SO:0001583	missense	1828	exon4			AAACCAGCAAGTT	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.243G>C	18.37:g.28908178G>C	ENSP00000257192:p.Gln81His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	104	56	0.538462	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	17.26	3.343886	0.61073	0.022015	0.0	ENSG00000134760	ENST00000257192	T	0.61158	0.13	5.59	2.78	0.32641	Cadherin (4);Cadherin-like (1);	0.315599	0.27526	N	0.018975	T	0.47021	0.1423	L	0.59436	1.845	0.80722	D	1	D	0.60575	0.988	D	0.66196	0.942	T	0.54275	-0.8318	10	0.26408	T	0.33	.	4.6815	0.12738	0.3769:0.0:0.4739:0.1491	.	81	Q02413	DSG1_HUMAN	H	81	ENSP00000257192:Q81H	ENSP00000257192:Q81H	Q	+	3	2	DSG1	27162176	0.896000	0.30565	1.000000	0.80357	0.992000	0.81027	0.009000	0.13219	0.705000	0.31890	0.563000	0.77884	CAG	G|0.992;C|0.008	0.008	strong		0.368	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		C	28908178	G	C	28908178	3	2	22	1	0	0	0	0	1	0	0	0	4776	962	34	4	257	4	DSG1	18	28908178	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	186075	28908178	49169070	9194	14302										
DSG1	1828	hgsc.bcm.edu	37	chr18	28919779	28919779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaatgacgacaggactaAtacagagccgaacactaaaa	9	8	0	2	rs8091003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28919779A>C	ENST00000257192.4	+	11	1690	c.1478A>C	c.(1477-1479)aAt>aCt	p.N493T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	493	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> T (in dbSNP:rs8091003).		apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACAGGACTAATACAGAGCCG	0.348													A|||	1178	0.235224	0.556	0.1225	5008	,	,		16074	0.0645		0.0875	False		,,,				2504	0.2096				p.N493T		Atlas-SNP	.											.	DSG1	176	.	0			c.A1478C						PASS	.	A	THR/ASN	2024,2382	562.8+/-381.0	459,1106,638	93	94	93		1478	-9.5	0	18	dbSNP_116	93	622,7978	162.5+/-215.2	30,562,3708	yes	missense	DSG1	NM_001942.2	65	489,1668,4346	CC,CA,AA		7.2326,45.9374,20.3445	benign	493/1050	28919779	2646,10360	2203	4300	6503	SO:0001583	missense	1828	exon11			GGACTAATACAGA	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1478A>C	18.37:g.28919779A>C	ENSP00000257192:p.Asn493Thr	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	405	0.18543956043956045	268	0.5447154471544715	45	0.12430939226519337	34	0.05944055944055944	58	0.07651715039577836	A	2.735	-0.263516	0.05754	0.459374	0.072326	ENSG00000134760	ENST00000257192	T	0.55930	0.49	4.74	-9.48	0.00591	Cadherin (1);	1.368040	0.04512	N	0.383090	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.12785	-1.0534	9	0.21014	T	0.42	.	4.4894	0.11806	0.5194:0.2746:0.1138:0.0922	rs8091003;rs58228580;rs8091003	493	Q02413	DSG1_HUMAN	T	493	ENSP00000257192:N493T	ENSP00000257192:N493T	N	+	2	0	DSG1	27173777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.021000	0.13489	-3.401000	0.00171	-1.337000	0.01257	AAT	A|0.796;C|0.204	0.204	strong		0.348	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		C	28919779	A	C	28919779	3	2	22	1	0	0	0	0	1	0	0	0	4776	101	4	5	1520	5	DSG1	18	28919779	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11601	28919779	49157469	9195	14303										
DSG1	1828	hgsc.bcm.edu	37	chr18	28919794	28919794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactaatacagagccgaacaCtaaaattactaccaatactg	5	10	0	1	rs8091117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28919794C>A	ENST00000257192.4	+	11	1705	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	498			T -> N (in dbSNP:rs8091117).		apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGCCGAACACTAAAATTACT	0.348													C|||	1119	0.223442	0.5113	0.1182	5008	,	,		16069	0.0645		0.0905	False		,,,				2504	0.2096				p.T498N		Atlas-SNP	.											.	DSG1	176	.	0			c.C1493A						PASS	.	C	ASN/THR	1872,2534	540.7+/-375.6	391,1090,722	105	105	105		1493	-1.9	0	18	dbSNP_116	105	624,7976	162.3+/-215.1	30,564,3706	yes	missense	DSG1	NM_001942.2	65	421,1654,4428	AA,AC,CC		7.2558,42.4875,19.1911	benign	498/1050	28919794	2496,10510	2203	4300	6503	SO:0001583	missense	1828	exon11			CGAACACTAAAAT	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1493C>A	18.37:g.28919794C>A	ENSP00000257192:p.Thr498Asn	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	118	118	1	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	383	0.17536630036630035	247	0.5020325203252033	44	0.12154696132596685	34	0.05944055944055944	58	0.07651715039577836	C	1.831	-0.469873	0.04445	0.424875	0.072558	ENSG00000134760	ENST00000257192	T	0.57595	0.39	3.29	-1.94	0.07571	Cadherin (1);	0.894418	0.09631	N	0.776187	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48186	-0.9057	9	0.18276	T	0.48	.	7.7511	0.28898	0.1709:0.3254:0.5036:0.0	rs8091117;rs56989750;rs8091117	498	Q02413	DSG1_HUMAN	N	498	ENSP00000257192:T498N	ENSP00000257192:T498N	T	+	2	0	DSG1	27173792	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.296000	0.08287	-0.473000	0.06871	-0.233000	0.12211	ACT	C|0.806;A|0.194	0.194	strong		0.348	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28919794	C	A	28919794	3	1	22	1	0	0	0	0	1	0	0	0	4776	565	20	4	1535	4	DSG1	18	28919794	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15	28919794	49157454	9196	14304										
DSG1	1828	hgsc.bcm.edu	37	chr18	28919884	28919884	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgactctagccaagtatAttcttctgaacccggaaacg	7	11	3	2	rs16961689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28919884A>C	ENST00000257192.4	+	11	1795	c.1583A>C	c.(1582-1584)tAt>tCt	p.Y528S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	528			Y -> S (in dbSNP:rs16961689).		apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCCAAGTATATTCTTCTGAA	0.418													T|||	745	0.148762	0.2428	0.0994	5008	,	,		16518	0.0645		0.0845	False		,,,				2504	0.2096				p.Y528S		Atlas-SNP	.											.	DSG1	176	.	0			c.A1583C						PASS	.	T	SER/TYR	790,3616		73,644,1486	112	112	112		1583	-7.3	0	18	dbSNP_123	112	613,7987		29,555,3716	yes	missense	DSG1	NM_001942.2	144	102,1199,5202	CC,CA,AA		7.1279,17.9301,10.7873	benign	528/1050	28919884	1403,11603	2203	4300	6503	SO:0001583	missense	1828	exon11			AAGTATATTCTTC	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1583A>C	18.37:g.28919884A>C	ENSP00000257192:p.Tyr528Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	252	0.11538461538461539	120	0.24390243902439024	40	0.11049723756906077	34	0.05944055944055944	58	0.07651715039577836	T	0	-2.792046	0.00077	0.179301	0.071279	ENSG00000134760	ENST00000257192	T	0.56103	0.48	3.66	-7.33	0.01431	.	64.773800	0.00166	N	0.000000	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	9	0.45353	T	0.12	.	0.6084	0.00757	0.3335:0.2049:0.266:0.1956	rs16961689;rs52817095;rs16961689	528	Q02413	DSG1_HUMAN	S	528	ENSP00000257192:Y528S	ENSP00000257192:Y528S	Y	+	2	0	DSG1	27173882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.182000	0.01256	-4.536000	0.00043	-5.634000	0.00000	TAT	A|0.885;C|0.115	0.115	strong		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		C	28919884	A	C	28919884	3	2	22	1	0	0	0	0	1	0	0	0	4776	449	16	5	1625	5	DSG1	18	28919884	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	90	28919884	49157364	9197	14305										
DSG1	1828	hgsc.bcm.edu	37	chr18	28919911	28919911	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaacccggaaacggagccaAagatttgttatcagacaatg					rs61730306|rs386802123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28919911A>G	ENST00000257192.4	+	11	1822	c.1610A>G	c.(1609-1611)aAa>aGa	p.K537R		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	537					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACGGAGCCAAAGATTTGTTA	0.418													a|||	745	0.148762	0.2428	0.0994	5008	,	,		16748	0.0645		0.0845	False		,,,				2504	0.2096				p.K537R		Atlas-SNP	.											.	DSG1	176	.	0			c.A1610G						PASS	.	G	ARG/LYS	12,4394		2,8,2193	97	97	97		1610	-2.2	0	18	dbSNP_129	97	2,8598		1,0,4299	yes	missense	DSG1	NM_001942.2	26	3,8,6492	GG,GA,AA		0.0233,0.2724,0.1076	benign	537/1050	28919911	14,12992	2203	4300	6503	SO:0001583	missense	1828	exon11			GAGCCAAAGATTT	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1610A>G	18.37:g.28919911A>G	ENSP00000257192:p.Lys537Arg	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	109	43	0.394495	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	250	0.11446886446886446	119	0.241869918699187	40	0.11049723756906077	33	0.057692307692307696	58	0.07651715039577836	a	0.011	-1.713122	0.00706	0.002724	2.33E-4	ENSG00000134760	ENST00000257192	T	0.56275	0.47	1.12	-2.24	0.06909	.	1.652450	0.04589	N	0.396400	T	0.00012	0.0000	N	0.12182	0.205	0.47547	P	5.460000000000464E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	9	0.11794	T	0.64	.	4.5681	0.12196	0.5075:0.0:0.4925:0.0	rs61730306	537	Q02413	DSG1_HUMAN	R	537	ENSP00000257192:K537R	ENSP00000257192:K537R	K	+	2	0	DSG1	27173909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.976000	0.03786	-1.292000	0.02366	-1.322000	0.01289	AAA	A|0.893;G|0.107	0.107	strong		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		G	28919911	A	G	28919911	3	3	22	1	0	0	0	0	1	0	0	0	4776	14	1	2	1652	2	DSG1	18	28919911	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	27	28919911	49157337	9198	14306	294	2								
DSG1	1828	hgsc.bcm.edu	37	chr18	28919913	28919913	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccggaaacggagccaaaGatttgttatcagacaatgta					rs34302455|rs200575647|rs386802123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28919913G>A	ENST00000257192.4	+	11	1824	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	538			D -> N (in dbSNP:rs34302455).		apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGGAGCCAAAGATTTGTTATC	0.413													G|||	746	0.148962	0.2421	0.0994	5008	,	,		16728	0.0665		0.0845	False		,,,				2504	0.2096				p.D538N		Atlas-SNP	.											DSG1,NS,carcinoma,0,1	DSG1	176	1	0			c.G1612A						PASS	.	G	ASN/ASP	8,4398		1,6,2196	98	97	97		1612	-1.4	0	18	dbSNP_126	97	2,8598		1,0,4299	yes	missense	DSG1	NM_001942.2	23	2,6,6495	AA,AG,GG		0.0233,0.1816,0.0769	benign	538/1050	28919913	10,12996	2203	4300	6503	SO:0001583	missense	1828	exon11			GCCAAAGATTTGT	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1612G>A	18.37:g.28919913G>A	ENSP00000257192:p.Asp538Asn	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	108	42	0.388889	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	247	0.1130952380952381	117	0.23780487804878048	40	0.11049723756906077	34	0.05944055944055944	56	0.07387862796833773	G	0.049	-1.257018	0.01457	0.001816	2.33E-4	ENSG00000134760	ENST00000257192	T	0.57107	0.42	1.12	-1.36	0.09085	.	7739.210000	0.00166	N	0.000000	T	0.00012	0.0000	L	0.36672	1.1	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.05037	-1.0910	9	0.12766	T	0.61	.	4.3923	0.11346	0.4926:0.0:0.5074:0.0	rs34302455	538	Q02413	DSG1_HUMAN	N	538	ENSP00000257192:D538N	ENSP00000257192:D538N	D	+	1	0	DSG1	27173911	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.282000	0.08445	-0.601000	0.05783	-0.652000	0.03908	GAT	G|0.894;A|0.106	0.106	strong		0.413	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28919913	G	A	28919913	3	1	22	1	0	0	0	0	1	0	0	0	4776	942	33	2	1654	2	DSG1	18	28919913	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	28919913	49157335	9199	14307	294	2								
DSG1	1828	hgsc.bcm.edu	37	chr18	28923906	28923906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggatataaccactgtcatAccacaaataccacctgataa	4	11	1	1	rs116081362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28923906A>G	ENST00000257192.4	+	13	2051	c.1839A>G	c.(1837-1839)atA>atG	p.I613M	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	613					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCACTGTCATACCACAAATAC	0.318													A|||	142	0.0283546	0.1021	0.0086	5008	,	,		15765	0.0		0.001	False		,,,				2504	0.0				p.I613M		Atlas-SNP	.											.	DSG1	176	.	0			c.A1839G						PASS	.	A	MET/ILE	385,4021	192.6+/-218.0	16,353,1834	124	114	118		1839	0.9	0	18	dbSNP_132	118	3,8593	3.0+/-9.4	0,3,4295	yes	missense	DSG1	NM_001942.2	10	16,356,6129	GG,GA,AA		0.0349,8.7381,2.9842	benign	613/1050	28923906	388,12614	2203	4298	6501	SO:0001583	missense	1828	exon13			TGTCATACCACAA	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1839A>G	18.37:g.28923906A>G	ENSP00000257192:p.Ile613Met	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	161	73	0.453416	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	53	0.024267399267399268	49	0.09959349593495935	4	0.011049723756906077	0	0.0	0	0.0	A	7.734	0.699824	0.15106	0.087381	3.49E-4	ENSG00000134760	ENST00000257192	T	0.42513	0.97	4.98	0.91	0.19337	.	0.499779	0.18540	N	0.138233	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	0.999997	P	0.40266	0.71	P	0.45167	0.472	T	0.02533	-1.1145	10	0.37606	T	0.19	.	3.6502	0.08201	0.3746:0.2209:0.4045:0.0	.	613	Q02413	DSG1_HUMAN	M	613	ENSP00000257192:I613M	ENSP00000257192:I613M	I	+	3	3	DSG1	27177904	0.212000	0.23540	0.009000	0.14445	0.000000	0.00434	0.194000	0.17135	0.046000	0.15833	-0.291000	0.09656	ATA	A|0.967;G|0.033	0.033	strong		0.318	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		G	28923906	A	G	28923906	3	3	22	1	0	0	0	0	1	0	0	0	4776	381	14	2	1889	2	DSG1	18	28923906	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3993	28923906	49153342	9200	14308										
DSG1	1828	hgsc.bcm.edu	37	chr18	28934681	28934681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcactgtgaccgagtcttAcaccacctctgacactctga	7	14	4	3	rs3752095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:28934681A>T	ENST00000257192.4	+	15	2734	c.2522A>T	c.(2521-2523)tAc>tTc	p.Y841F	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.Y200F|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	841			Y -> F (in dbSNP:rs3752095).		apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCGAGTCTTACACCACCTCT	0.527													A|||	578	0.115415	0.1256	0.0836	5008	,	,		21622	0.0813		0.1412	False		,,,				2504	0.1329				p.Y841F		Atlas-SNP	.											.	DSG1	176	.	0			c.A2522T						PASS	.	A	PHE/TYR	611,3795	265.9+/-266.9	39,533,1631	223	187	199		2522	5.8	1	18	dbSNP_107	199	1169,7431	239.9+/-270.8	70,1029,3201	yes	missense	DSG1	NM_001942.2	22	109,1562,4832	TT,TA,AA		13.593,13.8675,13.686	probably-damaging	841/1050	28934681	1780,11226	2203	4300	6503	SO:0001583	missense	1828	exon15			AGTCTTACACCAC	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2522A>T	18.37:g.28934681A>T	ENSP00000257192:p.Tyr841Phe	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	190	95	0.5	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	254	0.1163003663003663	65	0.13211382113821138	36	0.09944751381215469	48	0.08391608391608392	105	0.13852242744063326	A	13.18	2.158766	0.38119	0.138675	0.13593	ENSG00000134760	ENST00000257192	T	0.69175	-0.38	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000011	T	0.03348	0.0097	M	0.88775	2.98	0.22185	P	0.999301881	D	0.76494	0.999	D	0.72982	0.979	T	0.50423	-0.8830	9	0.72032	D	0.01	.	16.0817	0.81010	1.0:0.0:0.0:0.0	rs3752095;rs17715907;rs52827858;rs59956720;rs3752095	841	Q02413	DSG1_HUMAN	F	841	ENSP00000257192:Y841F	ENSP00000257192:Y841F	Y	+	2	0	DSG1	27188679	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	6.414000	0.73318	2.206000	0.71126	0.383000	0.25322	TAC	A|0.864;T|0.136	0.136	strong		0.527	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28934681	A	T	28934681	3	4	22	1	0	0	0	0	1	0	0	0	4776	391	14	5	2580	5	DSG1	18	28934681	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10775	28934681	49142567	9201	14309										
KIAA1012	22878	hgsc.bcm.edu	37	chr18	29487567	29487567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagttctggtgcttccggCggatacctgtaaatacaaaa	10	8	1	1	rs34176695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:29487567C>A	ENST00000283351.4	-	9	1580	c.1245G>T	c.(1243-1245)ccG>ccT	p.P415P	TRAPPC8_ENST00000582513.1_Silent_p.P415P|TRAPPC8_ENST00000582539.1_Silent_p.P361P	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	415					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						GTGCTTCCGGCGGATACCTGT	0.333													C|||	265	0.0529153	0.0877	0.0447	5008	,	,		15573	0.0109		0.0636	False		,,,				2504	0.044				p.P415P		Atlas-SNP	.											.	TRAPPC8	126	.	0			c.G1245T						PASS	.	C		369,4037	182.9+/-210.6	13,343,1847	51	52	52		1245	-2.4	0.9	18	dbSNP_126	52	576,8024	152.5+/-207.1	19,538,3743	no	coding-synonymous	TRAPPC8	NM_014939.3		32,881,5590	AA,AC,CC		6.6977,8.3749,7.2659		415/1436	29487567	945,12061	2203	4300	6503	SO:0001819	synonymous_variant	22878	exon9			TTCCGGCGGATAC	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.1245G>T	18.37:g.29487567C>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_014939	A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																			C|0.935;A|0.065	0.065	strong		0.333	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29487567	C	A	29487567	2	1	22	1	0	0	0	0	0	0	0	1	8204	755	27	4		4	KIAA1012	18	29487567	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	552886	29487567	48589681	9202	14310										
MEP1B	4225	hgsc.bcm.edu	37	chr18	29788107	29788107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgagttttatggactcGtgcagttttgaactggaaaa	10	6	0	2	rs4799640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:29788107G>A	ENST00000269202.6	+	9	839	c.792G>A	c.(790-792)tcG>tcA	p.S264S	MEP1B_ENST00000581447.1_Silent_p.S264S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	264	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTATGGACTCGTGCAGTTTTG	0.408													G|||	1154	0.230431	0.2814	0.1902	5008	,	,		19138	0.126		0.2207	False		,,,				2504	0.3078				p.S264S		Atlas-SNP	.											.	MEP1B	54	.	0			c.G792A						PASS	.	G		1006,2760		141,724,1018	220	213	215		792	-10.8	0.3	18	dbSNP_111	215	2010,6240		255,1500,2370	no	coding-synonymous	MEP1B	NM_005925.2		396,2224,3388	AA,AG,GG		24.3636,26.7127,25.0999		264/702	29788107	3016,9000	1883	4125	6008	SO:0001819	synonymous_variant	4225	exon9			GGACTCGTGCAGT	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.792G>A	18.37:g.29788107G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	174	77	0.442529	NM_005925	B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	CCDS45846.1																																																																																			G|0.778;A|0.222	0.222	strong		0.408	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		A	29788107	G	A	29788107	2	1	22	1	0	0	0	0	0	0	0	1	9476	1132	40	1		1	MEP1B	18	29788107	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	300540	29788107	48289141	9203	14311										
MEP1B	4225	hgsc.bcm.edu	37	chr18	29797921	29797921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcgaccaaatttgactcCgcaaaatgtaagttgaggct	8	8	0	2	rs616114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:29797921C>T	ENST00000269202.6	+	14	2131	c.2084C>T	c.(2083-2085)cCg>cTg	p.P695L	MEP1B_ENST00000581447.1_Missense_Mutation_p.P695L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	695			P -> L (in dbSNP:rs616114). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9288916}.		digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AATTTGACTCCGCAAAATGTA	0.393													C|||	1782	0.355831	0.4251	0.2882	5008	,	,		22256	0.255		0.3648	False		,,,				2504	0.4049				p.P695L		Atlas-SNP	.											.	MEP1B	54	.	0			c.C2084T	GRCh37	CM065309	MEP1B	M	rs616114	PASS	.	C	LEU/PRO	1534,2324		321,892,716	103	101	101		2084	0.4	0	18	dbSNP_83	101	3220,5040		638,1944,1548	yes	missense	MEP1B	NM_005925.2	98	959,2836,2264	TT,TC,CC		38.9831,39.7615,39.2309	benign	695/702	29797921	4754,7364	1929	4130	6059	SO:0001583	missense	4225	exon14			TGACTCCGCAAAA	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2084C>T	18.37:g.29797921C>T	ENSP00000269202:p.Pro695Leu	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	187	106	0.566845	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	778	0.35622710622710624	225	0.4573170731707317	109	0.3011049723756906	160	0.27972027972027974	284	0.37467018469656993	C	0.016	-1.529447	0.00951	0.397615	0.389831	ENSG00000141434	ENST00000269202	T	0.17854	2.25	5.68	0.414	0.16406	.	2.205680	0.01512	N	0.017988	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45512	-0.9256	9	0.02654	T	1	5.6145	9.8349	0.40963	0.0:0.3279:0.0:0.6721	rs616114;rs17663247;rs616114	695	Q16820	MEP1B_HUMAN	L	695	ENSP00000269202:P695L	ENSP00000269202:P695L	P	+	2	0	MEP1B	28051919	0.005000	0.15991	0.004000	0.12327	0.028000	0.11728	0.916000	0.28651	-0.149000	0.11215	-0.600000	0.04104	CCG	C|0.631;T|0.368	0.368	strong		0.393	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		T	29797921	C	T	29797921	3	4	22	1	0	0	0	0	1	0	0	0	9476	652	23	1	2138	1	MEP1B	18	29797921	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9814	29797921	48279327	9204	14312										
FAM59A	64762	hgsc.bcm.edu	37	chr18	29972964	29972964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcaggaatgaatcagcagAtagtcattttcccgcagccc	10	12	2	2	rs3786308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:29972964A>G	ENST00000269209.6	-	2	159	c.156T>C	c.(154-156)taT>taC	p.Y52Y	GAREM_ENST00000399218.4_Silent_p.Y52Y			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	52	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GAATCAGCAGATAGTCATTTT	0.443													G|||	771	0.153954	0.23	0.0937	5008	,	,		15768	0.1657		0.1074	False		,,,				2504	0.1299				p.Y52Y		Atlas-SNP	.											.	.	.	.	0			c.T156C						PASS	.	G	,	903,3503	740.8+/-411.2	107,689,1407	139	117	125		156,156	3.2	1	18	dbSNP_107	125	806,7794	782.6+/-407.6	44,718,3538	no	coding-synonymous,coding-synonymous	FAM59A	NM_001242409.1,NM_022751.2	,	151,1407,4945	GG,GA,AA		9.3721,20.4948,13.1401	,	52/877,52/876	29972964	1709,11297	2203	4300	6503	SO:0001819	synonymous_variant	64762	exon2			CAGCAGATAGTCA	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.156T>C	18.37:g.29972964A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	CCDS56057.1																																																																																			A|0.855;G|0.145	0.145	strong		0.443	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		G	29972964	A	G	29972964	2	3	22	1	0	0	0	0	0	0	0	1	5592	340	12	2		2	FAM59A	18	29972964	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	175043	29972964	48104284	9205	14313										
ELP2	55250	hgsc.bcm.edu	37	chr18	33744465	33744465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaagagcatgcagctatcAttctttggaacactacatct	7	9	3	2	rs73428967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:33744465A>G	ENST00000358232.6	+	18	1852	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V	ELP2_ENST00000351393.6_Missense_Mutation_p.I571V|ELP2_ENST00000350494.6_Missense_Mutation_p.I592V|ELP2_ENST00000442325.2_Missense_Mutation_p.I662V|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Missense_Mutation_p.I527V|ELP2_ENST00000423854.2_Missense_Mutation_p.I527V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	597					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCAGCTATCATTCTTTGGAA	0.368													A|||	15	0.00299521	0.0113	0.0	5008	,	,		19841	0.0		0.0	False		,,,				2504	0.0				p.I662V		Atlas-SNP	.											.	ELP2	70	.	0			c.A1984G						PASS	.	A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	52,4354	52.3+/-87.9	1,50,2152	118	113	115		1984,1774,1711,1579,1579,1789	5.8	1	18	dbSNP_130	115	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	ELP2	NM_001242875.1,NM_001242876.1,NM_001242877.1,NM_001242878.1,NM_001242879.1,NM_018255.2	29,29,29,29,29,29	1,50,6452	GG,GA,AA		0.0,1.1802,0.3998	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	662/892,592/822,571/801,527/757,527/757,597/827	33744465	52,12954	2203	4300	6503	SO:0001583	missense	55250	exon19			GCTATCATTCTTT	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1789A>G	18.37:g.33744465A>G	ENSP00000350967:p.Ile597Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	176	80	0.454545	NM_001242875	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	18.12	3.554080	0.65425	0.011802	0.0	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.65364	-0.15;2.26;1.09;2.26;0.0;-0.15	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.103034	0.64402	D	0.000005	T	0.62756	0.2454	M	0.67625	2.065	0.54753	D	0.999986	P;P;P;P;P;P	0.49090	0.879;0.879;0.881;0.919;0.619;0.868	P;P;P;P;P;P	0.52031	0.688;0.688;0.527;0.672;0.511;0.472	T	0.66308	-0.5956	10	0.33940	T	0.23	-26.4385	14.0849	0.64949	1.0:0.0:0.0:0.0	.	592;662;527;527;571;597	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	V	597;571;662;527;592;527	ENSP00000350967:I597V;ENSP00000257191:I571V;ENSP00000414851:I662V;ENSP00000391202:I527V;ENSP00000316051:I592V;ENSP00000443800:I527V	ENSP00000316051:I592V	I	+	1	0	ELP2	31998463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.037000	0.49775	2.208000	0.71279	0.533000	0.62120	ATT	A|0.997;G|0.003	0.003	strong		0.368	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		G	33744465	A	G	33744465	3	3	22	1	0	0	0	0	1	0	0	0	5080	217	8	2	1859	2	ELP2	18	33744465	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3771501	33744465	44332783	9206	14314										
KIAA1328	57536	hgsc.bcm.edu	37	chr18	34647176	34647176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgtccacatcttaagccTactcctagtcaatgctgtgg	8	11	2	0	rs3747895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:34647176T>C	ENST00000280020.5	+	7	922	c.900T>C	c.(898-900)ccT>ccC	p.P300P	KIAA1328_ENST00000586501.1_Silent_p.P16P|KIAA1328_ENST00000591619.1_Silent_p.P296P|KIAA1328_ENST00000543923.1_Silent_p.P192P|KIAA1328_ENST00000435985.2_Silent_p.P16P|KIAA1328_ENST00000586135.1_Silent_p.P16P	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	300										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ATCTTAAGCCTACTCCTAGTC	0.443													T|||	1297	0.258986	0.643	0.1311	5008	,	,		21398	0.1101		0.1292	False		,,,				2504	0.1176				p.P300P		Atlas-SNP	.											.	KIAA1328	39	.	0			c.T900C						PASS	.	T		2272,1844		625,1022,411	104	98	100		900	0.1	0	18	dbSNP_107	100	1148,7264		78,992,3136	no	coding-synonymous	KIAA1328	NM_020776.1		703,2014,3547	CC,CT,TT		13.6472,44.8008,27.2989		300/578	34647176	3420,9108	2058	4206	6264	SO:0001819	synonymous_variant	57536	exon7			TAAGCCTACTCCT	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.900T>C	18.37:g.34647176T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	174	173	0.994253	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	CCDS45855.1																																																																																			T|0.749;C|0.251	0.251	strong		0.443	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		C	34647176	T	C	34647176	2	2	22	1	0	0	0	0	0	0	0	1	8225	1509	53	3		3	KIAA1328	18	34647176	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	902711	34647176	43430072	9207	14315										
KIAA1328	57536	hgsc.bcm.edu	37	chr18	34647323	34647323	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatctctggtgcatggtggTggggcactgcaacccattga	14	10	1	1	rs3747896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:34647323T>A	ENST00000280020.5	+	7	1069	c.1047T>A	c.(1045-1047)ggT>ggA	p.G349G	KIAA1328_ENST00000586501.1_Silent_p.G65G|KIAA1328_ENST00000591619.1_Silent_p.G345G|KIAA1328_ENST00000543923.1_Silent_p.G241G|KIAA1328_ENST00000435985.2_Silent_p.G65G|KIAA1328_ENST00000586135.1_Silent_p.G65G	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	349										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGCATGGTGGTGGGGCACTGC	0.448													A|||	1299	0.259385	0.6445	0.1311	5008	,	,		19160	0.1101		0.1292	False		,,,				2504	0.1176				p.G349G		Atlas-SNP	.											.	KIAA1328	39	.	0			c.T1047A						PASS	.	A		2353,1669		730,893,388	72	69	70		1047	-0.9	0	18	dbSNP_107	70	1345,7043		269,807,3118	no	coding-synonymous	KIAA1328	NM_020776.1		999,1700,3506	AA,AT,TT		16.0348,41.4968,29.7985		349/578	34647323	3698,8712	2011	4194	6205	SO:0001819	synonymous_variant	57536	exon7			TGGTGGTGGGGCA	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1047T>A	18.37:g.34647323T>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	192	190	0.989583	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	CCDS45855.1																																																																																			A|0.237;G|0.031;T|0.732	0.237	strong		0.448	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		A	34647323	T	A	34647323	2	1	22	1	0	0	0	0	0	0	0	1	8225	1683	59	5		5	KIAA1328	18	34647323	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	147	34647323	43429925	9208	14316										
PIK3C3	5289	hgsc.bcm.edu	37	chr18	39576682	39576682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtttagatattatcttacGaatcaagaaaaagtgagtgt	8	3	2	3	rs140083392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:39576682G>A	ENST00000262039.4	+	9	1058	c.972G>A	c.(970-972)acG>acA	p.T324T	PIK3C3_ENST00000398870.3_Silent_p.T261T	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	324	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATTATCTTACGAATCAAGAAA	0.279										TSP Lung(28;0.18)			G|||	5	0.000998403	0.0038	0.0	5008	,	,		15613	0.0		0.0	False		,,,				2504	0.0				p.T324T	NSCLC(37;552 1060 2683 16430 37914)	Atlas-SNP	.											PIK3C3,NS,carcinoma,+1,1	PIK3C3	138	1	0			c.G972A						scavenged	.	G		4,4392	8.1+/-20.4	0,4,2194	66	70	68		972	-5.3	1	18	dbSNP_134	68	0,8550		0,0,4275	no	coding-synonymous	PIK3C3	NM_002647.2		0,4,6469	AA,AG,GG		0.0,0.091,0.0309		324/888	39576682	4,12942	2198	4275	6473	SO:0001819	synonymous_variant	5289	exon9			TCTTACGAATCAA	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.972G>A	18.37:g.39576682G>A		Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	163	65	0.398773	NM_002647	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																			G|0.999;A|0.001	0.001	strong		0.279	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		A	39576682	G	A	39576682	2	1	22	1	0	0	0	0	0	0	0	1	11912	1045	37	1		1	PIK3C3	18	39576682	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4929359	39576682	38500566	9209	14317										
SLC14A2	8170	hgsc.bcm.edu	37	chr18	43246156	43246156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagacccatttccctatcGataccggaagcccacagtcg	7	15	0	1	rs9960464	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:43246156G>A	ENST00000255226.6	+	12	2345	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	SLC14A2_ENST00000586448.1_Missense_Mutation_p.R510Q|SLC14A2_ENST00000589658.1_5'UTR	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	510			R -> Q (in dbSNP:rs9960464). {ECO:0000269|PubMed:11502588, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.R510Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCCCTATCGATACCGGAAG	0.512											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1870	0.373403	0.2867	0.4712	5008	,	,		17597	0.3423		0.4314	False		,,,				2504	0.3937				p.R510Q		Atlas-SNP	.											SLC14A2,NS,carcinoma,0,1	SLC14A2	121	1	1	Substitution - Missense(1)	stomach(1)	c.G1529A						PASS	.	G	GLN/ARG,GLN/ARG	1446,2960	469.2+/-355.4	225,996,982	160	126	138		1529,1529	-11.7	0	18	dbSNP_119	138	3848,4752	541.7+/-384.0	826,2196,1278	yes	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	43,43	1051,3192,2260	AA,AG,GG		44.7442,32.8189,40.7043	benign,benign	510/921,510/921	43246156	5294,7712	2203	4300	6503	SO:0001583	missense	8170	exon13			CCTATCGATACCG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1529G>A	18.37:g.43246156G>A	ENSP00000255226:p.Arg510Gln	Somatic	119	0	0	914	WXS	Illumina HiSeq	Phase_I	132	62	0.469697	NM_001242692	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	839	0.3841575091575092	138	0.2804878048780488	175	0.48342541436464087	192	0.3356643356643357	334	0.44063324538258575	g	7.576	0.667826	0.14710	0.328189	0.447442	ENSG00000132874	ENST00000255226	T	0.32515	1.45	6.04	-11.7	0.00046	.	1.340750	0.04528	N	0.385873	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	9	0.13108	T	0.6	3.2061	6.7344	0.23401	0.1347:0.579:0.0671:0.2192	rs9960464;rs52828182;rs59892831;rs9960464	510	Q15849	UT2_HUMAN	Q	510	ENSP00000255226:R510Q	ENSP00000255226:R510Q	R	+	2	0	SLC14A2	41500154	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.763000	0.04740	-1.612000	0.01579	-0.405000	0.06341	CGA	G|0.615;A|0.385	0.385	strong		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43246156	G	A	43246156	3	1	22	1	0	0	0	0	1	0	0	0	14397	1058	37	1	1571	1	SLC14A2	18	43246156	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3669474	43246156	34831092	9210	14318										
SLC14A1	6563	hgsc.bcm.edu	37	chr18	43307246	43307246	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaagtaaggatgaatggaCggtctttgattggcggcgct	14	5	1	2	rs11877062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:43307246C>T	ENST00000321925.4	+	2	211				RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R4W|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R4W|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000502059.2_5'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000586142.1_5'Flank	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)						transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GATGAATGGACGGTCTTTGAT	0.517													C|||	2013	0.401957	0.1846	0.5115	5008	,	,		19904	0.5188		0.5089	False		,,,				2504	0.3875				p.R4W		Atlas-SNP	.											.	SLC14A1	84	.	0			c.C10T						PASS	.	C	TRP/ARG,,TRP/ARG,	293,1091		28,237,427	63	52	55		10,,10,	2.8	0.9	18	dbSNP_120	55	1567,1615		399,769,423	yes	missense,intron,missense,intron	SLC14A1	NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6	101,,101,	427,1006,850	TT,TC,CC		49.2458,21.1705,40.7359	probably-damaging,,probably-damaging,	4/446,,4/446,	43307246	1860,2706	692	1591	2283	SO:0001627	intron_variant	6563	exon1			AATGGACGGTCTT	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.-22+2268C>T	18.37:g.43307246C>T		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_001146037	A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	CCDS11925.1	961	0.440018315018315	92	0.18699186991869918	188	0.5193370165745856	296	0.5174825174825175	385	0.5079155672823219	C	17.05	3.288793	0.59976	0.211705	0.492458	ENSG00000141469	ENST00000415427;ENST00000436407	T;T	0.48836	0.8;0.8	4.61	2.81	0.32909	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.09310	P	0.99999776371	D	0.63880	0.993	P	0.47705	0.555	T	0.48127	-0.9062	8	0.72032	D	0.01	.	6.976	0.24674	0.0:0.7872:0.0:0.2128	rs11877062;rs11877062	4	Q13336-2	.	W	4	ENSP00000412309:R4W;ENSP00000390637:R4W	ENSP00000412309:R4W	R	+	1	2	SLC14A1	41561244	0.376000	0.25098	0.918000	0.36340	0.911000	0.54048	0.567000	0.23608	0.488000	0.27723	0.467000	0.42956	CGG	C|0.593;T|0.407	0.407	strong		0.517	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		T	43307246	C	T	43307246	1	4	22	0	1	0	0	0	0	0	0	0	14396	527	19	1		1	SLC14A1	18	43307246	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61090	43307246	34770002	9211	14319										
SLC14A1	6563	hgsc.bcm.edu	37	chr18	43307338	43307338	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgacgcagcgcgcagaggCatcgcccggctaagcttggc	16	13	0	2	rs11877086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:43307338C>A	ENST00000321925.4	+	2	211				RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_5'Flank|SLC14A1_ENST00000436407.3_Silent_p.G34G|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Silent_p.G34G|SLC14A1_ENST00000502059.2_5'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000586142.1_5'Flank	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)						transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CGCGCAGAGGCATCGCCCGGC	0.607													C|||	2016	0.402556	0.1853	0.5115	5008	,	,		18400	0.5198		0.5099	False		,,,				2504	0.3875				p.G34G		Atlas-SNP	.											.	SLC14A1	84	.	0			c.C102A						PASS	.	C	,,,	293,1091		28,237,427	51	50	50		102,,102,	2.3	0.1	18	dbSNP_120	50	1563,1619		398,767,426	no	coding-synonymous,utr-5,coding-synonymous,intron	SLC14A1	NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6	,,,	426,1004,853	AA,AC,CC		49.1201,21.1705,40.6483	,,,	34/446,,34/446,	43307338	1856,2710	692	1591	2283	SO:0001627	intron_variant	6563	exon1			CAGAGGCATCGCC	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.-22+2360C>A	18.37:g.43307338C>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	67	67	1	NM_001146037	A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Silent	SNP	ENST00000321925.4	37	CCDS11925.1																																																																																			C|0.566;A|0.434	0.434	strong		0.607	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		A	43307338	C	A	43307338	1	1	22	0	1	0	0	0	0	0	0	0	14396	697	25	4		4	SLC14A1	18	43307338	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92	43307338	34769910	9212	14320										
SLC14A1	6563	hgsc.bcm.edu	37	chr18	43319519	43319519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctttcagccccatttgagGacatctactttggactctgg	9	11	4	1	rs1058396	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:43319519G>A	ENST00000321925.4	+	8	1070	c.838G>A	c.(838-840)Gac>Aac	p.D280N	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.D336N|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.D336N|SLC14A1_ENST00000402943.2_Missense_Mutation_p.D175N|SLC14A1_ENST00000502059.2_Missense_Mutation_p.D172N|SLC14A1_ENST00000535474.1_Missense_Mutation_p.D148N|SLC14A1_ENST00000586142.1_Missense_Mutation_p.D280N|SLC14A1_ENST00000589700.1_Silent_p.R230R|SLC14A1_ENST00000591541.1_5'UTR	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	280			D -> N (in Jk(b); dbSNP:rs1058396). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9215669, ECO:0000269|Ref.6, ECO:0000269|Ref.8}.		transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCATTTGAGGACATCTACTT	0.522													G|||	2058	0.410942	0.2277	0.5187	5008	,	,		21202	0.5258		0.501	False		,,,				2504	0.3712				p.D336N		Atlas-SNP	.											.	SLC14A1	84	.	0			c.G1006A	GRCh37	CM973381	SLC14A1	M	rs1058396	PASS	.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1169,3237	411.5+/-335.8	166,837,1200	117	101	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1006,838,1006,838	-7.6	0.2	18	dbSNP_86	107	4177,4423	567.8+/-388.9	1013,2151,1136	yes	missense,missense,missense,missense	SLC14A1	NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6	23,23,23,23	1179,2988,2336	AA,AG,GG		48.5698,26.532,41.1041	benign,benign,benign,benign	336/446,280/390,336/446,280/390	43319519	5346,7660	2203	4300	6503	SO:0001583	missense	6563	exon7			TTTGAGGACATCT	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.838G>A	18.37:g.43319519G>A	ENSP00000318546:p.Asp280Asn	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	165	164	0.993939	NM_001146037	A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	CCDS11925.1	983	0.4500915750915751	123	0.25	185	0.511049723756906	297	0.5192307692307693	378	0.49868073878627966	G	8.967	0.971992	0.18736	0.26532	0.485698	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.62	-7.56	0.01322	.	0.406612	0.26106	N	0.026306	T	0.00012	0.0000	N	0.16201	0.385	0.25146	P	0.99046678	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12837	0.002;0.008;0.008	T	0.41448	-0.9508	9	0.17369	T	0.5	-2.2595	13.0875	0.59149	0.7465:0.1444:0.1091:0.0	rs1058396;rs1802856;rs3199014;rs17748015;rs17846462;rs17847469;rs17859515;rs56527960;rs56745862;rs1058396	336;172;280	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	N	280;336;172;175;148;336	ENSP00000318546:D280N;ENSP00000412309:D336N;ENSP00000442180:D172N;ENSP00000385320:D175N;ENSP00000441998:D148N;ENSP00000390637:D336N	ENSP00000318546:D280N	D	+	1	0	SLC14A1	41573517	0.104000	0.21937	0.182000	0.23118	0.859000	0.49053	0.700000	0.25601	-1.283000	0.02393	0.591000	0.81541	GAC	G|0.587;A|0.413	0.413	strong		0.522	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		A	43319519	G	A	43319519	3	1	22	1	0	0	0	0	1	0	0	0	14396	1174	41	2	1032	2	SLC14A1	18	43319519	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12181	43319519	34757729	9213	14321										
TCEB3B	51224	hgsc.bcm.edu	37	chr18	44559578	44559578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgccgctgctgctctggctGgagggagtgtggctgcttcc	16	13	1	0	rs149717505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:44559578G>A	ENST00000332567.4	-	1	2410	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	686					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						tgctCTGGCTGGAGGGAGTGT	0.627													G|||	9	0.00179712	0.0053	0.0029	5008	,	,		14981	0.0		0.0	False		,,,				2504	0.0				p.S686S		Atlas-SNP	.											.	TCEB3B	141	.	0			c.C2058T						PASS	.	G	,	25,4377		0,25,2176	38	43	41		2058,	1.1	0	18	dbSNP_134	41	0,8598		0,0,4299	no	coding-synonymous,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	,	0,25,6475	AA,AG,GG		0.0,0.5679,0.1923	,	686/754,	44559578	25,12975	2201	4299	6500	SO:0001819	synonymous_variant	51224	exon1			CTGGCTGGAGGGA	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2058C>T	18.37:g.44559578G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	154	77	0.5	NM_016427	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																			G|0.998;A|0.002	0.002	strong		0.627	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		A	44559578	G	A	44559578	2	1	22	1	0	0	0	0	0	0	0	1	15679	1335	47	2		2	TCEB3B	18	44559578	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1240059	44559578	33517670	9214	14322										
TCEB3B	51224	hgsc.bcm.edu	37	chr18	44561069	44561069	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttccgggttgcttcccGggcgcagcgggctcagggcc	15	16	2	0	rs139088020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:44561069G>T	ENST00000332567.4	-	1	919	c.567C>A	c.(565-567)ccC>ccA	p.P189P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	189					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTTGCTTCCCGGGCGCAGCGG	0.701													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		13286	0.0		0.0	False		,,,				2504	0.0				p.P189P		Atlas-SNP	.											.	TCEB3B	141	.	0			c.C567A						PASS	.	G	,	20,4348		0,20,2164	24	28	27		567,	-0.2	0	18	dbSNP_134	27	0,8562		0,0,4281	no	coding-synonymous,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	,	0,20,6445	TT,TG,GG		0.0,0.4579,0.1547	,	189/754,	44561069	20,12910	2184	4281	6465	SO:0001819	synonymous_variant	51224	exon1			CTTCCCGGGCGCA	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.567C>A	18.37:g.44561069G>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	70	41	0.585714	NM_016427	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																			G|0.998;T|0.002	0.002	strong		0.701	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44561069	G	T	44561069	2	4	22	1	0	0	0	0	0	0	0	1	15679	1103	39	4		4	TCEB3B	18	44561069	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1491	44561069	33516179	9215	14323										
HDHD2	84064	hgsc.bcm.edu	37	chr18	44660923	44660923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgggtctgacttgtttcCgctctagtaaacttctggct	10	10	3	1	rs7230131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:44660923C>T	ENST00000300605.6	-	3	406	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	85			R -> Q (in dbSNP:rs7230131).			extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						GACTTGTTTCCGCTCTAGTAA	0.378													c|||	182	0.0363419	0.1293	0.0101	5008	,	,		18140	0.001		0.001	False		,,,				2504	0.002				p.R85Q		Atlas-SNP	.											.	HDHD2	12	.	0			c.G254A						PASS	.	C	GLN/ARG	435,3971	210.5+/-231.0	13,409,1781	110	108	109		254	3.6	1	18	dbSNP_116	109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HDHD2	NM_032124.4	43	13,413,6077	TT,TC,CC		0.0465,9.8729,3.3754	benign	85/260	44660923	439,12567	2203	4300	6503	SO:0001583	missense	84064	exon3			TGTTTCCGCTCTA	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.254G>A	18.37:g.44660923C>T	ENSP00000300605:p.Arg85Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_032124	A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	CCDS32829.1	55	0.025183150183150184	52	0.10569105691056911	3	0.008287292817679558	0	0.0	0	0.0	c	8.194	0.796607	0.16327	0.098729	4.65E-4	ENSG00000167220	ENST00000300605	T	0.29917	1.55	5.97	3.57	0.40892	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.197776	0.44688	N	0.000433	T	0.00210	0.0006	N	0.02539	-0.55	0.26525	N	0.974354	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.02654	T	1	2.3857	10.9093	0.47099	0.0:0.1293:0.0:0.8707	rs7230131;rs52803001;rs7230131	85	Q9H0R4	HDHD2_HUMAN	Q	85	ENSP00000300605:R85Q	ENSP00000300605:R85Q	R	-	2	0	HDHD2	42914921	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.293000	0.59037	1.077000	0.40990	-0.285000	0.09966	CGG	C|0.966;T|0.034	0.034	strong		0.378	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		T	44660923	C	T	44660923	3	4	22	1	0	0	0	0	1	0	0	0	7023	652	23	1	545	1	HDHD2	18	44660923	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99854	44660923	33416325	9216	14324										
ZBTB7C	201501	hgsc.bcm.edu	37	chr18	45566903	45566903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccttctctgtgagatggtcTgtcttggaagggctttggtg	15	7	3	1	rs114461217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:45566903T>C	ENST00000588982.1	-	3	1077	c.576A>G	c.(574-576)acA>acG	p.T192T	ZBTB7C_ENST00000332053.2_Silent_p.T192T|ZBTB7C_ENST00000590800.1_Silent_p.T192T|ZBTB7C_ENST00000535628.2_Silent_p.T192T|ZBTB7C_ENST00000586438.1_Silent_p.T192T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	192							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGAGATGGTCTGTCTTGGAAG	0.567													C|||	43	0.00858626	0.0295	0.0043	5008	,	,		18424	0.0		0.001	False		,,,				2504	0.0				p.T192T		Atlas-SNP	.											.	ZBTB7C	73	.	0			c.A576G						PASS	.	C		134,4272	814.1+/-416.2	2,130,2071	110	107	108		576	-2	1	18	dbSNP_132	108	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous	ZBTB7C	NM_001039360.2		2,132,6369	CC,CT,TT		0.0233,3.0413,1.0457		192/620	45566903	136,12870	2203	4300	6503	SO:0001819	synonymous_variant	201501	exon2			ATGGTCTGTCTTG	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.576A>G	18.37:g.45566903T>C		Somatic	365	1	0.00273973		WXS	Illumina HiSeq	Phase_I	376	168	0.446809	NM_001039360	O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																			T|0.990;C|0.010	0.010	strong		0.567	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		C	45566903	T	C	45566903	2	2	22	1	0	0	0	0	0	0	0	1	17552	1567	55	3		3	ZBTB7C	18	45566903	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	905980	45566903	32510345	9217	14325										
C18orf32	497661	hgsc.bcm.edu	37	chr18	47008736	47008736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagtctttctttttatcacaGatttctgttggtccttttgt	6	7	4	1	rs148432146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47008736G>A	ENST00000318240.3	-	3	421	c.210C>T	c.(208-210)atC>atT	p.I70I	C18orf32_ENST00000582392.1_Silent_p.I70I|RPL17-C18orf32_ENST00000584895.1_3'UTR|C18orf32_ENST00000579820.1_Silent_p.I70I|RPL17-C18orf32_ENST00000332968.6_3'UTR|RP11-110H1.4_ENST00000580150.1_RNA	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	70					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)			large_intestine(2)|lung(1)	3						TTTTATCACAGATTTCTGTTG	0.348													G|||	5	0.000998403	0.003	0.0014	5008	,	,		17984	0.0		0.0	False		,,,				2504	0.0				p.I70I		Atlas-SNP	.											.	C18orf32	8	.	0			c.C210T						PASS	.	G	,,,	21,4383	28.1+/-56.4	0,21,2181	112	118	116		210,210,,	2.8	0.8	18	dbSNP_134	116	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,utr-3,utr-3	C18orf32,RPL17-C18ORF32	NM_001035005.3,NM_001199346.1,NM_001199355.1,NM_001199356.1	,,,	0,21,6479	AA,AG,GG		0.0,0.4768,0.1615	,,,	70/77,70/77,,	47008736	21,12979	2202	4298	6500	SO:0001819	synonymous_variant	497661	exon3			ATCACAGATTTCT	AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.210C>T	18.37:g.47008736G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	96	56	0.583333	NM_001199346		Silent	SNP	ENST00000318240.3	37	CCDS32831.1																																																																																			G|0.999;A|0.001	0.001	strong		0.348	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005		A	47008736	G	A	47008736	2	1	22	1	0	0	0	0	0	0	0	1	1901	932	33	2		2	C18orf32	18	47008736	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1441833	47008736	31068512	9218	14326										
LIPG	9388	hgsc.bcm.edu	37	chr18	47088741	47088741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattgctttgctgcggggagCcccgtaccttttggtccaga	12	11	0	1	rs874566	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47088741C>T	ENST00000261292.4	+	1	341	c.63C>T	c.(61-63)agC>agT	p.S21S	LIPG_ENST00000427224.2_Silent_p.S21S|LIPG_ENST00000580036.1_Silent_p.S21S|LIPG_ENST00000577628.1_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	21					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTGCGGGGAGCCCCGTACCTT	0.557													C|||	224	0.0447284	0.1551	0.0216	5008	,	,		14167	0.0		0.004	False		,,,				2504	0.0				p.S21S	Pancreas(126;280 1778 12814 26243 34948)	Atlas-SNP	.											.	LIPG	47	.	0			c.C63T						PASS	.	C		677,3729	285.7+/-278.4	57,563,1583	81	81	81		63	2.6	0	18	dbSNP_86	81	37,8563	25.1+/-72.6	0,37,4263	no	coding-synonymous	LIPG	NM_006033.2		57,600,5846	TT,TC,CC		0.4302,15.3654,5.4898		21/501	47088741	714,12292	2203	4300	6503	SO:0001819	synonymous_variant	9388	exon1			GGGGAGCCCCGTA	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.63C>T	18.37:g.47088741C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	93	46	0.494624	NM_006033	B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	CCDS11938.1																																																																																			C|0.953;T|0.047	0.047	strong		0.557	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		T	47088741	C	T	47088741	2	4	22	1	0	0	0	0	0	0	0	1	8823	738	26	2		2	LIPG	18	47088741	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	80005	47088741	30988507	9219	14327										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47398549	47398549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcttaccttcagactattGtaggccagatctgcattcgg	8	10	3	2	rs3826579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47398549G>A	ENST00000285039.7	-	27	3890	c.3591C>T	c.(3589-3591)taC>taT	p.Y1197Y	MYO5B_ENST00000324581.6_Silent_p.Y338Y|MYO5B_ENST00000587895.1_5'UTR|Y_RNA_ENST00000364798.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1197					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGACTATTGTAGGCCAGAT	0.512													G|||	1502	0.29992	0.2753	0.2291	5008	,	,		18058	0.4256		0.2177	False		,,,				2504	0.3384				p.Y1197Y		Atlas-SNP	.											.	MYO5B	178	.	0			c.C3591T						PASS	.	G		973,2901		123,727,1087	370	354	359		3591	2.5	1	18	dbSNP_107	359	1632,6638		163,1306,2666	no	coding-synonymous	MYO5B	NM_001080467.2		286,2033,3753	AA,AG,GG		19.734,25.1162,21.4509		1197/1849	47398549	2605,9539	1937	4135	6072	SO:0001819	synonymous_variant	4645	exon27			ACTATTGTAGGCC	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3591C>T	18.37:g.47398549G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	210	94	0.447619	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																			G|0.718;A|0.282	0.282	strong		0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47398549	G	A	47398549	2	1	22	1	0	0	0	0	0	0	0	1	10079	1372	48	2		2	MYO5B	18	47398549	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	309808	47398549	30678699	9220	14328										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47405425	47405426	+	In_Frame_Ins	INS	-	-	GAG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccagttctttcttcatINSgagattttccttcacagagt					rs33910398|rs3841750|rs200219597|rs397841722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47405425_47405426insGAG	ENST00000285039.7	-	24	3464_3465	c.3165_3166insCTC	c.(3163-3168)ctcatg>ctcCTCatg	p.1055_1056insL	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_In_Frame_Ins_p.196_197insL	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1055			L -> LL (in dbSNP:rs72530399). {ECO:0000269|PubMed:10574461, ECO:0000269|Ref.4}.		endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.M1056L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTTCTTCATGAGATTTTCCT	0.45														2027	0.404752	0.3638	0.268	5008	,	,		21517	0.5685		0.3002	False		,,,				2504	0.4959				p.M1056delinsLM		Pindel,Atlas-Indel	.											MYO5B,NS,carcinoma,0,1	MYO5B	178	1	1	Substitution - Missense(1)	pancreas(1)	c.3166_3167insCTC						PASS	.			1273,2303		242,789,757						2.8	0.9		dbSNP_119	77	2176,5680		316,1544,2068	no	coding	MYO5B	NM_001080467.2		558,2333,2825	A1A1,A1R,RR		27.6986,35.5984,30.1697				3449,7983				SO:0001652	inframe_insertion	4645	exon24			.	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3163_3165dupCTC	18.37:g.47405426_47405428dupGAG	ENSP00000285039:p.Leu1055_Leu1055dup	Somatic	173	.	.		WXS	Illumina HiSeq	Phase_I	176	88	0.5	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	In_Frame_Ins	INS	ENST00000285039.7	37	CCDS42436.1																																																																																			-|0.623;GAG|0.377	0.377	strong		0.45	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			GAG	47405426	-	GAG	47405425	7	5	22	1	0	1	1	0	0	0	0	0	10079	1464	51	0	2448	0	MYO5B	18	47405425	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	6876	47405425	30671823	9221	14329										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47455923	47455923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgattcgaatcgtctccaaCaccccgcaggctctgagttg	9	14	2	2	rs2298628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47455923C>T	ENST00000285039.7	-	17	2348	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	683	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCGTCTCCAACACCCCGCAGG	0.527													C|||	2060	0.411342	0.3782	0.3948	5008	,	,		15159	0.2688		0.5507	False		,,,				2504	0.4714				p.V683V		Atlas-SNP	.											.	MYO5B	178	.	0			c.G2049A						PASS	.	C		1662,2190		356,950,620	29	30	30		2049	2.5	0.9	18	dbSNP_100	30	4564,3704		1267,2030,837	no	coding-synonymous	MYO5B	NM_001080467.2		1623,2980,1457	TT,TC,CC		44.7992,43.1464,48.6304		683/1849	47455923	6226,5894	1926	4134	6060	SO:0001819	synonymous_variant	4645	exon17			CTCCAACACCCCG	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2049G>A	18.37:g.47455923C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																			C|0.563;T|0.437	0.437	strong		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47455923	C	T	47455923	2	4	22	1	0	0	0	0	0	0	0	1	10079	465	17	2		2	MYO5B	18	47455923	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50498	47455923	30621325	9222	14330										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47462657	47462657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcgttgggcttgatgcaGcggacatagtgaggtgtcgt	15	7	1	2	rs1627232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47462657G>A	ENST00000285039.7	-	16	2267	c.1968C>T	c.(1966-1968)cgC>cgT	p.R656R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	656	Actin-binding. {ECO:0000255}.|Myosin motor.		R -> C (in DIAR2). {ECO:0000269|PubMed:18724368}.		endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTTGATGCAGCGGACATAGT	0.537													g|||	167	0.0333466	0.0923	0.0043	5008	,	,		19813	0.0268		0.0109	False		,,,				2504	0.0041				p.R656R		Atlas-SNP	.											.	MYO5B	178	.	0			c.C1968T						PASS	.	A		271,3913		12,247,1833	96	99	98		1968	1.7	1	18	dbSNP_89	98	15,8451		0,15,4218	no	coding-synonymous	MYO5B	NM_001080467.2		12,262,6051	AA,AG,GG		0.1772,6.4771,2.2609		656/1849	47462657	286,12364	2092	4233	6325	SO:0001819	synonymous_variant	4645	exon16			GATGCAGCGGACA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1968C>T	18.37:g.47462657G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	143	63	0.440559	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																			G|0.961;A|0.039	0.039	strong		0.537	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47462657	G	A	47462657	2	1	22	1	0	0	0	0	0	0	0	1	10079	958	34	2		2	MYO5B	18	47462657	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6734	47462657	30614591	9223	14331										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47506874	47506874	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacacttccaaggtgcaaGatagaagcaattatcttaaa	7	9	1	2	rs16951352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47506874G>T	ENST00000285039.7	-	9	1295	c.996C>A	c.(994-996)atC>atA	p.I332I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	332	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAAGGTGCAAGATAGAAGCAA	0.418													G|||	61	0.0121805	0.0431	0.0043	5008	,	,		18907	0.0		0.001	False		,,,				2504	0.0				p.I332I		Atlas-SNP	.											.	MYO5B	178	.	0			c.C996A						PASS	.	G		125,3877		0,125,1876	117	113	114		996	4.3	1	18	dbSNP_123	114	11,8301		0,11,4145	no	coding-synonymous	MYO5B	NM_001080467.2		0,136,6021	TT,TG,GG		0.1323,3.1234,1.1044		332/1849	47506874	136,12178	2001	4156	6157	SO:0001819	synonymous_variant	4645	exon9			GTGCAAGATAGAA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.996C>A	18.37:g.47506874G>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	134	60	0.447761	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																			G|0.993;T|0.007	0.007	strong		0.418	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47506874	G	T	47506874	2	4	22	1	0	0	0	0	0	0	0	1	10079	932	33	4		4	MYO5B	18	47506874	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44217	47506874	30570374	9224	14332										
CCDC11	220136	hgsc.bcm.edu	37	chr18	47788535	47788535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attatgcttctgatggctgcGtcggattctttctagatggt	11	7	3	2	rs138060809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47788535G>A	ENST00000398545.4	-	2	241	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGATGGCTGCGTCGGATTCTT	0.433													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.0				p.R42C		Atlas-SNP	.											.	CCDC11	59	.	0			c.C124T						PASS	.	G	CYS/ARG	8,3834		0,8,1913	118	113	115		124	4.2	0	18	dbSNP_134	115	0,8250		0,0,4125	yes	missense	CCDC11	NM_145020.3	180	0,8,6038	AA,AG,GG		0.0,0.2082,0.0662	probably-damaging	42/515	47788535	8,12084	1921	4125	6046	SO:0001583	missense	220136	exon2			GGCTGCGTCGGAT																												ENST00000398545.4:c.124C>T	18.37:g.47788535G>A	ENSP00000381553:p.Arg42Cys	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.779	0.512676	0.12944	0.002082	0.0	ENSG00000172361	ENST00000398545	T	0.35789	1.29	5.12	4.24	0.50183	.	0.138507	0.22268	U	0.062301	T	0.37237	0.0996	L	0.58101	1.795	0.09310	N	0.999996	D	0.64830	0.994	P	0.44477	0.451	T	0.35001	-0.9806	10	0.72032	D	0.01	0.0534	11.0958	0.48143	0.0:0.0:0.8151:0.1849	.	42	Q96M91	CCD11_HUMAN	C	42	ENSP00000381553:R42C	ENSP00000381553:R42C	R	-	1	0	CCDC11	46042533	0.058000	0.20735	0.003000	0.11579	0.110000	0.19582	3.065000	0.49994	1.503000	0.48686	-0.309000	0.09137	CGC	G|0.999;A|0.001	0.001	strong		0.433	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			A	47788535	G	A	47788535	3	1	22	1	0	0	0	0	1	0	0	0	2746	1145	40	1	1448	1	CCDC11	18	47788535	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	281661	47788535	30288713	9225	14333										
CXXC1	30827	hgsc.bcm.edu	37	chr18	47809710	47809710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctctgaggattatacacAtcacagaagagtcgtgtggc	11	8	2	3	rs150530383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47809710A>G	ENST00000285106.6	-	13	2310	c.1596T>C	c.(1594-1596)gaT>gaC	p.D532D	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|CXXC1_ENST00000589940.1_Intron|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000412036.2_Silent_p.D536D|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000353909.3_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000424334.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	532					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GATTATACACATCACAGAAGA	0.572													A|||	11	0.00219649	0.0083	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.0				p.D536D		Atlas-SNP	.											.	CXXC1	50	.	0			c.T1608C						PASS	.	A	,	12,4394	19.1+/-41.9	0,12,2191	133	139	137		1608,1596	1.9	1	18	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CXXC1	NM_001101654.1,NM_014593.3	,	0,12,6491	GG,GA,AA		0.0,0.2724,0.0923	,	536/661,532/657	47809710	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	30827	exon13			ATACACATCACAG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1596T>C	18.37:g.47809710A>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	147	74	0.503401	NM_001101654	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																			A|0.999;G|0.001	0.001	strong		0.572	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		G	47809710	A	G	47809710	2	3	22	1	0	0	0	0	0	0	0	1	4097	214	8	2		2	CXXC1	18	47809710	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	21175	47809710	30267538	9226	14334										
SKA1	220134	hgsc.bcm.edu	37	chr18	47908556	47908556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaacatcttaaagaaaacGttccttcccatttgcctcaa	4	11	2	2	rs6507992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47908556G>A	ENST00000285116.3	+	4	482	c.271G>A	c.(271-273)Gtt>Att	p.V91I	SKA1_ENST00000488454.1_5'UTR|SKA1_ENST00000417656.2_Missense_Mutation_p.V91I|SKA1_ENST00000398452.2_Missense_Mutation_p.V91I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	91			V -> I (in dbSNP:rs6507992). {ECO:0000269|PubMed:14702039}.		cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGAAAACGTTCCTTCCCA	0.348													A|||	4027	0.804113	0.9251	0.7954	5008	,	,		18656	0.88		0.5994	False		,,,				2504	0.7791				p.V91I		Atlas-SNP	.											.	SKA1	21	.	0			c.G271A						PASS	.	A	ILE/VAL,ILE/VAL	3874,532	241.2+/-251.7	1713,448,42	84	87	86		271,271	2	1	18	dbSNP_116	86	5215,3385	501.5+/-375.5	1582,2051,667	yes	missense,missense	SKA1	NM_001039535.2,NM_145060.3	29,29	3295,2499,709	AA,AG,GG		39.3605,12.0744,30.1169	benign,benign	91/256,91/256	47908556	9089,3917	2203	4300	6503	SO:0001583	missense	220134	exon4			GAAAACGTTCCTT	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.271G>A	18.37:g.47908556G>A	ENSP00000285116:p.Val91Ile	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_001039535	B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	CCDS11946.1	1664	0.7619047619047619	444	0.9024390243902439	268	0.7403314917127072	501	0.8758741258741258	451	0.5949868073878628	A	0.085	-1.176961	0.01646	0.879256	0.606395	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.44881	0.91;0.91;0.91	5.66	1.95	0.26073	.	0.337447	0.33092	N	0.005289	T	0.00012	0.0000	N	0.02721	-0.515	0.09310	P	0.9999999999992604	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.41088	-0.9528	9	0.02654	T	1	-1.2451	8.559	0.33498	0.6853:0.0:0.3147:0.0	rs6507992;rs17661226;rs52818481;rs60344562;rs6507992	91;91	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	I	91	ENSP00000285116:V91I;ENSP00000397222:V91I;ENSP00000381470:V91I	ENSP00000285116:V91I	V	+	1	0	SKA1	46162554	0.999000	0.42202	0.994000	0.49952	0.238000	0.25445	1.084000	0.30828	0.085000	0.17107	-0.361000	0.07541	GTT	G|0.256;A|0.744	0.744	strong		0.348	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		A	47908556	G	A	47908556	3	1	22	1	0	0	0	0	1	0	0	0	14352	1145	40	1	281	1	SKA1	18	47908556	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98846	47908556	30168692	9227	14335										
SKA1	220134	hgsc.bcm.edu	37	chr18	47911631	47911631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaaccaatcaaagttgaAgaacctgaacccgtaaagaa	8	8	1	5	rs11538068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47911631A>G	ENST00000285116.3	+	5	568	c.357A>G	c.(355-357)gaA>gaG	p.E119E	SKA1_ENST00000417656.2_Intron|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000398452.2_Silent_p.E119E	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	119					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TCAAAGTTGAAGAACCTGAAC	0.373													G|||	427	0.0852636	0.2383	0.0245	5008	,	,		16172	0.0794		0.0129	False		,,,				2504	0.002				p.E119E		Atlas-SNP	.											.	SKA1	21	.	0			c.A357G						PASS	.	G	,	869,3537	743.6+/-411.5	80,709,1414	139	144	142		357,357	1.2	0.6	18	dbSNP_120	142	14,8586	818.7+/-406.8	0,14,4286	no	coding-synonymous,coding-synonymous	SKA1	NM_001039535.2,NM_145060.3	,	80,723,5700	GG,GA,AA		0.1628,19.7231,6.7892	,	119/256,119/256	47911631	883,12123	2203	4300	6503	SO:0001819	synonymous_variant	220134	exon5			AGTTGAAGAACCT	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.357A>G	18.37:g.47911631A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	82	25	0.304878	NM_001039535	B2R9Y6|B4E0P4	Silent	SNP	ENST00000285116.3	37	CCDS11946.1																																																																																			A|0.920;G|0.080	0.080	strong		0.373	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		G	47911631	A	G	47911631	2	3	22	1	0	0	0	0	0	0	0	1	14352	69	3	3		3	SKA1	18	47911631	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3075	47911631	30165617	9228	14336										
SKA1	220134	hgsc.bcm.edu	37	chr18	47918536	47918536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagctgacaagaagtttcaCgtgttactgaatattttacg	8	6	1	3	rs16951872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:47918536C>T	ENST00000285116.3	+	7	898	c.687C>T	c.(685-687)caC>caT	p.H229H	SKA1_ENST00000417656.2_Silent_p.H183H|SKA1_ENST00000488454.1_Silent_p.H78H|SKA1_ENST00000398452.2_Silent_p.H229H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	229					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						AGAAGTTTCACGTGTTACTGA	0.378													C|||	392	0.0782748	0.2133	0.0216	5008	,	,		13624	0.0794		0.0129	False		,,,				2504	0.002				p.H229H		Atlas-SNP	.											.	SKA1	21	.	0			c.C687T						PASS	.	C	,	786,3620	316.6+/-294.7	63,660,1480	93	93	93		687,687	-5.2	0.2	18	dbSNP_123	93	14,8586	9.1+/-34.3	0,14,4286	no	coding-synonymous,coding-synonymous	SKA1	NM_001039535.2,NM_145060.3	,	63,674,5766	TT,TC,CC		0.1628,17.8393,6.151	,	229/256,229/256	47918536	800,12206	2203	4300	6503	SO:0001819	synonymous_variant	220134	exon7			GTTTCACGTGTTA	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.687C>T	18.37:g.47918536C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	49	0.505155	NM_001039535	B2R9Y6|B4E0P4	Silent	SNP	ENST00000285116.3	37	CCDS11946.1																																																																																			C|0.925;T|0.075	0.075	strong		0.378	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		T	47918536	C	T	47918536	2	4	22	1	0	0	0	0	0	0	0	1	14352	535	19	1		1	SKA1	18	47918536	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6905	47918536	30158712	9229	14337										
MAPK4	5596	hgsc.bcm.edu	37	chr18	48248453	48248453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgcgcaagctgctcccTgaagtgaacagtgaaggtac	11	12	1	3	rs16952476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:48248453T>C	ENST00000400384.2	+	4	1873	c.837T>C	c.(835-837)ccT>ccC	p.P279P	MAPK4_ENST00000540640.1_Silent_p.P68P|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	279	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)		AGCTGCTCCCTGAAGTGAACA	0.612													t|||	209	0.0417332	0.0787	0.0101	5008	,	,		20179	0.0883		0.004	False		,,,				2504	0.0051				p.P279P		Atlas-SNP	.											.	MAPK4	75	.	0			c.T837C						PASS	.	C		243,3865		11,221,1822	55	61	59		837	-11.4	0	18	dbSNP_123	59	5,8377		0,5,4186	no	coding-synonymous	MAPK4	NM_002747.3		11,226,6008	CC,CT,TT		0.0597,5.9153,1.9856		279/588	48248453	248,12242	2054	4191	6245	SO:0001819	synonymous_variant	5596	exon4			GCTCCCTGAAGTG	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.837T>C	18.37:g.48248453T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	60	24	0.4	NM_002747	A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	CCDS42437.1																																																																																			T|0.971;C|0.029	0.029	strong		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		C	48248453	T	C	48248453	2	2	22	1	0	0	0	0	0	0	0	1	9280	1567	55	3		3	MAPK4	18	48248453	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	329917	48248453	29828795	9230	14338										
MRO	83876	hgsc.bcm.edu	37	chr18	48327815	48327815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattttttccatttcctcccGgcaaaggcagccaattgccc	6	14	0	0	rs2276186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:48327815G>A	ENST00000428869.2	-	7	747	c.489C>T	c.(487-489)gcC>gcT	p.A163A	MRO_ENST00000588444.1_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Silent_p.A163A|MRO_ENST00000436348.2_Silent_p.A177A|MRO_ENST00000398439.3_Silent_p.A163A			Q9BYG7	MSTRO_HUMAN	maestro	163						nucleolus (GO:0005730)		p.A163A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ATTTCCTCCCGGCAAAGGCAG	0.463													G|||	2151	0.429513	0.261	0.5519	5008	,	,		20552	0.3512		0.5239	False		,,,				2504	0.5542				p.A177A		Atlas-SNP	.											MRO,NS,carcinoma,0,1	MRO	36	1	1	Substitution - coding silent(1)	prostate(1)	c.C531T						PASS	.	G	,,,	1353,3053	451.2+/-349.6	207,939,1057	148	148	148		,,531,489	-1.2	0.9	18	dbSNP_100	148	4279,4321	575.6+/-390.3	1095,2089,1116	no	intron,intron,coding-synonymous,coding-synonymous	MRO	NM_001127174.1,NM_001127175.1,NM_001127176.1,NM_031939.3	,,,	1302,3028,2173	AA,AG,GG		49.7558,30.7081,43.3031	,,,	,,177/263,163/249	48327815	5632,7374	2203	4300	6503	SO:0001819	synonymous_variant	83876	exon5			CCTCCCGGCAAAG	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.489C>T	18.37:g.48327815G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	91	90	0.989011	NM_001127176	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	ENST00000428869.2	37	CCDS11947.1																																																																																			G|0.579;A|0.421	0.421	strong		0.463	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		A	48327815	G	A	48327815	2	1	22	1	0	0	0	0	0	0	0	1	9772	1103	39	1		1	MRO	18	48327815	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79362	48327815	29749433	9231	14339										
MRO	83876	hgsc.bcm.edu	37	chr18	48333203	48333203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggctcccgcttctggaaCctcagtttccaagagacctg	10	13	2	2	rs4940019	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:48333203C>G	ENST00000428869.2	-	5	375	c.117G>C	c.(115-117)agG>agC	p.R39S	MRO_ENST00000588444.1_Missense_Mutation_p.R39S|MRO_ENST00000431965.2_Missense_Mutation_p.R53S|MRO_ENST00000587291.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.R39S|MRO_ENST00000436348.2_Missense_Mutation_p.R53S|MRO_ENST00000398439.3_Missense_Mutation_p.R39S			Q9BYG7	MSTRO_HUMAN	maestro	39			R -> S (in dbSNP:rs4940019). {ECO:0000269|PubMed:14702039}.			nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCTTCTGGAACCTCAGTTTCC	0.463													C|||	2319	0.463059	0.1929	0.6816	5008	,	,		19022	0.4673		0.496	False		,,,				2504	0.635				p.R53S		Atlas-SNP	.											.	MRO	36	.	0			c.G159C						PASS	.	C	SER/ARG,SER/ARG,SER/ARG,SER/ARG	1065,3341	387.7+/-326.6	111,843,1249	84	87	86		117,159,159,117	2.6	0.1	18	dbSNP_111	86	4146,4454	565.6+/-388.5	1008,2130,1162	yes	missense,missense,missense,missense	MRO	NM_001127174.1,NM_001127175.1,NM_001127176.1,NM_031939.3	110,110,110,110	1119,2973,2411	GG,GC,CC		48.2093,24.1716,40.0661	benign,benign,benign,benign	39/197,53/211,53/263,39/249	48333203	5211,7795	2203	4300	6503	SO:0001583	missense	83876	exon3			CTGGAACCTCAGT	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.117G>C	18.37:g.48333203C>G	ENSP00000409509:p.Arg39Ser	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	66	30	0.454545	NM_001127175	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	CCDS11947.1	980	0.44871794871794873	94	0.1910569105691057	230	0.6353591160220995	288	0.5034965034965035	368	0.48548812664907653	C	7.049	0.564038	0.13498	0.241716	0.482093	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.31247	2.38;1.98;1.5;1.5;1.5	5.39	2.63	0.31362	Armadillo-type fold (1);	2.863360	0.00855	N	0.001864	T	0.00012	0.0000	M	0.72479	2.2	0.80722	P	0.0	B;P;B;B	0.35774	0.016;0.519;0.024;0.002	B;B;B;B	0.37480	0.006;0.251;0.02;0.007	T	0.47573	-0.9107	9	0.09590	T	0.72	-20.4336	5.1639	0.15075	0.1637:0.6627:0.0:0.1736	rs4940019;rs52818026;rs57216618;rs4940019	39;53;53;39	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	S	53;53;39;39;39	ENSP00000397900:R53S;ENSP00000392614:R53S;ENSP00000409509:R39S;ENSP00000381465:R39S;ENSP00000256425:R39S	ENSP00000256425:R39S	R	-	3	2	MRO	46587201	0.019000	0.18553	0.094000	0.20943	0.732000	0.41865	0.590000	0.23954	0.271000	0.22005	-0.300000	0.09419	AGG	C|0.579;G|0.421	0.421	strong		0.463	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		G	48333203	C	G	48333203	3	3	22	1	0	0	0	0	1	0	0	0	9772	506	18	4	649	4	MRO	18	48333203	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5388	48333203	29744045	9232	14340										
ME2	4200	hgsc.bcm.edu	37	chr18	48458662	48458662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccagtggcagtccatttgGgccagtgaaacttacagatg	12	9	0	2	rs649224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:48458662G>A	ENST00000321341.5	+	13	1621	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	ME2_ENST00000585680.1_3'UTR|ME2_ENST00000382927.3_Missense_Mutation_p.G450E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	450			G -> E (in dbSNP:rs649224).		malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AGTCCATTTGGGCCAGTGAAA	0.368													G|||	782	0.15615	0.3517	0.1023	5008	,	,		14058	0.0942		0.0726	False		,,,				2504	0.0798				p.G450E		Atlas-SNP	.											.	ME2	49	.	0			c.G1349A						PASS	.	G	GLU/GLY,GLU/GLY	1257,3149	430.6+/-342.6	174,909,1120	128	125	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1349,1349	-4.5	0.9	18	dbSNP_83	126	661,7939	167.7+/-219.4	22,617,3661	yes	missense,missense	ME2	NM_001168335.1,NM_002396.4	98,98	196,1526,4781	AA,AG,GG		7.686,28.5293,14.747	benign,benign	450/480,450/585	48458662	1918,11088	2203	4300	6503	SO:0001583	missense	4200	exon13			CATTTGGGCCAGT	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1349G>A	18.37:g.48458662G>A	ENSP00000321070:p.Gly450Glu	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	266	266	1	NM_001168335	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	330	0.1510989010989011	173	0.3516260162601626	40	0.11049723756906077	69	0.12062937062937062	48	0.0633245382585752	G	9.596	1.127309	0.20959	0.285293	0.07686	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.40476	1.03;1.03	5.18	-4.53	0.03462	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.586195	0.19418	N	0.114769	T	0.00012	0.0000	N	0.04275	-0.24	0.40955	P	0.015429000000000026	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.40905	-0.9538	9	0.20046	T	0.44	-0.0013	15.3934	0.74767	0.765:0.0:0.235:0.0	rs649224;rs52805686;rs61056684;rs649224	450;450	Q9BWL6;P23368	.;MAOM_HUMAN	E	450	ENSP00000321070:G450E;ENSP00000372384:G450E	ENSP00000321070:G450E	G	+	2	0	ME2	46712660	0.037000	0.19845	0.913000	0.36048	0.961000	0.63080	0.038000	0.13862	-0.931000	0.03746	-0.291000	0.09656	GGG	G|0.838;A|0.162	0.162	strong		0.368	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		A	48458662	G	A	48458662	3	1	22	1	0	0	0	0	1	0	0	0	9418	1232	43	2	1395	2	ME2	18	48458662	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	125459	48458662	29618586	9233	14341										
DCC	1630	hgsc.bcm.edu	37	chr18	50705370	50705370	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacagcctgggtcccttcAgctcactgtgggaaacctga	10	13	2	1	rs116498325	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:50705370A>T	ENST00000442544.2	+	9	2073	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	DCC_ENST00000581580.1_Missense_Mutation_p.Q141L|DCC_ENST00000412726.1_Missense_Mutation_p.Q334L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	486	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGGTCCCTTCAGCTCACTGTG	0.463													A|||	15	0.00299521	0.0106	0.0014	5008	,	,		16535	0.0		0.0	False		,,,				2504	0.0				p.Q486L		Atlas-SNP	.											.	DCC	360	.	0			c.A1457T						PASS	.	A	LEU/GLN	43,4363	46.0+/-80.4	1,41,2161	100	90	94		1457	5.6	1	18	dbSNP_132	94	0,8600		0,0,4300	yes	missense	DCC	NM_005215.3	113	1,41,6461	TT,TA,AA		0.0,0.9759,0.3306	possibly-damaging	486/1448	50705370	43,12963	2203	4300	6503	SO:0001583	missense	1630	exon9			CCCTTCAGCTCAC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1457A>T	18.37:g.50705370A>T	ENSP00000389140:p.Gln486Leu	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	164	78	0.47561	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	A	15.68	2.903669	0.52333	0.009759	0.0	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57752	0.38;0.38	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076791	0.52532	D	0.000063	T	0.63534	0.2519	M	0.72894	2.215	0.53688	D	0.999971	P;P;D	0.58970	0.769;0.769;0.984	P;P;D	0.65874	0.593;0.593;0.939	T	0.71533	-0.4564	10	0.87932	D	0	.	15.0981	0.72250	1.0:0.0:0.0:0.0	.	334;334;486	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	486;419;334	ENSP00000389140:Q486L;ENSP00000397322:Q334L	ENSP00000304146:Q419L	Q	+	2	0	DCC	48959368	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.534000	0.90620	2.266000	0.75297	0.533000	0.62120	CAG	A|0.996;T|0.004	0.004	strong		0.463	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50705370	A	T	50705370	3	4	22	1	0	0	0	0	1	0	0	0	4282	188	7	5	1491	5	DCC	18	50705370	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2246708	50705370	27371878	9234	14342										
DCC	1630	hgsc.bcm.edu	37	chr18	50976898	50976898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggacaaatgcaccccccGcatggcagtgtcactcctca	8	15	2	0	rs35891220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:50976898G>A	ENST00000442544.2	+	23	3874	c.3258G>A	c.(3256-3258)ccG>ccA	p.P1086P	DCC_ENST00000581580.1_Silent_p.P721P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1086					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCACCCCCCGCATGGCAGTG	0.507													g|||	203	0.0405351	0.1172	0.0231	5008	,	,		17120	0.006		0.0119	False		,,,				2504	0.0143				p.P1086P		Atlas-SNP	.											DCC,colon,carcinoma,0,1	DCC	360	1	0			c.G3258A						scavenged	.	A		458,3948	219.1+/-236.9	22,414,1767	104	89	94		3258	-9.3	0.3	18	dbSNP_126	94	30,8570	19.8+/-62.0	0,30,4270	no	coding-synonymous	DCC	NM_005215.3		22,444,6037	AA,AG,GG		0.3488,10.3949,3.7521		1086/1448	50976898	488,12518	2203	4300	6503	SO:0001819	synonymous_variant	1630	exon23			CCCCCCGCATGGC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3258G>A	18.37:g.50976898G>A		Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	127	64	0.503937	NM_005215		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																			G|0.966;A|0.034	0.034	strong		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50976898	G	A	50976898	2	1	22	1	0	0	0	0	0	0	0	1	4282	1074	38	1		1	DCC	18	50976898	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	271528	50976898	27100350	9235	14343										
TCF4	6925	hgsc.bcm.edu	37	chr18	52901894	52901894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcctctcagggccacgccAtcttcacgatgggtccccac	9	18	3	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:52901894A>G	ENST00000356073.4	-	16	1982	c.1371T>C	c.(1369-1371)gaT>gaC	p.D457D	TCF4_ENST00000564403.2_Silent_p.D463D|TCF4_ENST00000568673.1_Silent_p.D433D|TCF4_ENST00000457482.3_Silent_p.D297D|TCF4_ENST00000566279.1_Silent_p.D397D|TCF4_ENST00000566286.1_Silent_p.D454D|TCF4_ENST00000565018.2_Silent_p.D457D|TCF4_ENST00000567880.1_Silent_p.D397D|TCF4_ENST00000564999.1_Silent_p.D457D|TCF4_ENST00000543082.1_Silent_p.D415D|TCF4_ENST00000354452.3_Silent_p.D457D|TCF4_ENST00000540999.1_Silent_p.D433D|TCF4_ENST00000537856.3_Silent_p.D327D|TCF4_ENST00000570177.2_Silent_p.D327D|TCF4_ENST00000537578.1_Silent_p.D433D|TCF4_ENST00000568740.1_Silent_p.D432D|TCF4_ENST00000570287.2_Silent_p.D297D|TCF4_ENST00000398339.1_Silent_p.D559D|TCF4_ENST00000561992.1_Silent_p.D327D|TCF4_ENST00000564228.1_Silent_p.D386D|TCF4_ENST00000561831.3_Silent_p.D297D|TCF4_ENST00000544241.2_Silent_p.D386D	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	457					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGGCCACGCCATCTTCACGAT	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D559D		Atlas-SNP	.											.	TCF4	178	.	0			c.T1677C						PASS	.						92	95	94					18																	52901894		2203	4300	6503	SO:0001819	synonymous_variant	6925	exon17			CACGCCATCTTCA	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1371T>C	18.37:g.52901894A>G		Somatic	70	0	0	988	WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_001243226	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	CCDS11960.1																																																																																			.	.	none		0.597	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		G	52901894	A	G	52901894	2	3	22	1	0	0	0	0	0	0	0	1	15692	214	8	2		2	TCF4	18	52901894	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1924996	52901894	25175354	9236	14344										
ST8SIA3	51046	hgsc.bcm.edu	37	chr18	55021725	55021725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaaccttctaagtggaAatttaatcggacagcgtttt	9	6	1	1	rs3745060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:55021725A>C	ENST00000324000.3	+	2	2306	c.272A>C	c.(271-273)aAa>aCa	p.K91T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	91			K -> T (in dbSNP:rs3745060).		cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCTAAGTGGAAATTTAATCGG	0.403													C|||	1846	0.36861	0.5204	0.3199	5008	,	,		18792	0.495		0.159	False		,,,				2504	0.2832				p.K91T		Atlas-SNP	.											.	ST8SIA3	73	.	0			c.A272C						PASS	.	C	THR/LYS	1999,2407	616.4+/-392.8	455,1089,659	110	109	109		272	2	1	18	dbSNP_107	109	1365,7235	755.4+/-407.5	100,1165,3035	yes	missense	ST8SIA3	NM_015879.2	78	555,2254,3694	CC,CA,AA		15.8721,45.37,25.865	benign	91/381	55021725	3364,9642	2203	4300	6503	SO:0001583	missense	51046	exon2			AGTGGAAATTTAA	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.272A>C	18.37:g.55021725A>C	ENSP00000320431:p.Lys91Thr	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	763	0.34935897435897434	240	0.4878048780487805	102	0.281767955801105	306	0.534965034965035	115	0.1517150395778364	C	2.834	-0.241904	0.05906	0.4537	0.158721	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.39997	1.05	4.88	2.02	0.26589	.	0.387780	0.31495	N	0.007546	T	0.00012	0.0000	N	0.14661	0.345	0.49798	P	1.7400000000000748E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	9	0.08837	T	0.75	-6.3465	2.5347	0.04711	0.2854:0.336:0.2786:0.1	rs3745060;rs52812069;rs56693866;rs3745060	91	O43173	SIA8C_HUMAN	T	198;91	ENSP00000320431:K91T	ENSP00000320431:K91T	K	+	2	0	ST8SIA3	53172723	0.043000	0.20138	0.987000	0.45799	0.979000	0.70002	-0.004000	0.12878	-0.039000	0.13602	-0.352000	0.07741	AAA	A|0.692;C|0.308	0.308	strong		0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		C	55021725	A	C	55021725	3	2	22	1	0	0	0	0	1	0	0	0	15232	14	1	5	278	5	ST8SIA3	18	55021725	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2119831	55021725	23055523	9237	14345										
ST8SIA3	51046	hgsc.bcm.edu	37	chr18	55027334	55027334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacttgtatggattttggccGtttggatttgaccccaacac	9	10	0	1	rs112792874|rs1153626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:55027334G>T	ENST00000324000.3	+	4	3003	c.969G>T	c.(967-969)ccG>ccT	p.P323P		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	323					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GATTTTGGCCGTTTGGATTTG	0.433																																					p.P323P		Atlas-SNP	.											.	ST8SIA3	73	.	0			c.G969T						PASS	.	T		1710,2696	652.4+/-399.4	333,1044,826	129	117	121		969	3.5	1	18	dbSNP_87	121	1344,7256	756.2+/-407.5	98,1148,3054	no	coding-synonymous	ST8SIA3	NM_015879.2		431,2192,3880	TT,TG,GG		15.6279,38.8107,23.4815		323/381	55027334	3054,9952	2203	4300	6503	SO:0001819	synonymous_variant	51046	exon4			TTGGCCGTTTGGA	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.969G>T	18.37:g.55027334G>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	183	82	0.448087	NM_015879	A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	CCDS32834.1																																																																																			T|0.282;G|0.718;A|0.000	0.282	strong		0.433	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		T	55027334	G	T	55027334	2	4	22	1	0	0	0	0	0	0	0	1	15232	1132	40	4		4	ST8SIA3	18	55027334	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5609	55027334	23049914	9238	14346										
ONECUT2	9480	hgsc.bcm.edu	37	chr18	55103476	55103477	+	In_Frame_Ins	INS	-	-	CAC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacccgcaccaccatccgINScaccaccaccaccaccacca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:55103476_55103477insCAC	ENST00000491143.2	+	1	560_561	c.528_529insCAC	c.(529-531)cac>CACcac	p.177_177H>HH	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	177	Poly-His.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		accaccatccgcaccaccacca	0.658																																					p.P176delinsPH		Pindel,Atlas-Indel	.											.	ONECUT2	42	.	0			c.528_529insCAC						PASS	.																																			SO:0001652	inframe_insertion	9480	exon1			.	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.550_552dupCAC	18.37:g.55103483_55103485dupCAC	ENSP00000419185:p.His184dup	Somatic	63	.	.		WXS	Illumina HiSeq	Phase_I	66	11	0.167	NM_004852		In_Frame_Ins	INS	ENST00000491143.2	37	CCDS42440.1																																																																																			.	.	none		0.658	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			CAC	55103477	-	CAC	55103476	7	5	22	1	0	1	1	0	0	0	0	0	10869	1074	38	0	530	0	ONECUT2	18	55103476	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	76142	55103476	22973772	9239	14347										
ATP8B1	5205	hgsc.bcm.edu	37	chr18	55334339	55334339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacttaatatcctccccaTagcagatggtggtgtcttca	7	12	3	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:55334339T>C	ENST00000283684.4	-	19	2269	c.2270A>G	c.(2269-2271)tAt>tGt	p.Y757C	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.Y757C|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	757					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)				ATCCTCCCCATAGCAGATGGT	0.368																																					p.Y757C		Atlas-SNP	.											.	ATP8B1	126	.	0			c.A2270G						PASS	.						114	107	109					18																	55334339		2203	4300	6503	SO:0001583	missense	5205	exon20			TCCCCATAGCAGA	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.2270A>G	18.37:g.55334339T>C	ENSP00000283684:p.Tyr757Cys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928583	0.52759	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.67698	-0.28;-0.28	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.65773	0.938	T	0.79999	-0.1566	10	0.66056	D	0.02	.	14.945	0.71023	0.0:0.0:0.0:1.0	.	757	O43520	AT8B1_HUMAN	C	757	ENSP00000283684:Y757C;ENSP00000445359:Y757C	ENSP00000283684:Y757C	Y	-	2	0	ATP8B1	53485337	1.000000	0.71417	0.990000	0.47175	0.593000	0.36681	5.781000	0.68964	2.063000	0.61619	0.528000	0.53228	TAT	.	.	none		0.368	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		C	55334339	T	C	55334339	3	2	22	1	0	0	0	0	1	0	0	0	1194	1406	49	2	1521	2	ATP8B1	18	55334339	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	230863	55334339	22742909	9240	14348										
RNF152	220441	hgsc.bcm.edu	37	chr18	59483514	59483514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgacacggagaagccgggAggcagcttggtgacaccgcg	17	11	0	2	rs9319985	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59483514A>G	ENST00000312828.3	-	2	1282	c.183T>C	c.(181-183)ccT>ccC	p.P61P		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	61					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGAAGCCGGGAGGCAGCTTGG	0.622													G|||	1087	0.217053	0.3343	0.1931	5008	,	,		18490	0.0992		0.2515	False		,,,				2504	0.1616				p.P61P		Atlas-SNP	.											RNF152,caecum,carcinoma,0,1	RNF152	37	1	0			c.T183C						scavenged	.	G		1328,3078	683.5+/-404.3	196,936,1071	55	59	57		183	3.2	1	18	dbSNP_119	57	2059,6541	709.6+/-405.7	252,1555,2493	no	coding-synonymous	RNF152	NM_173557.2		448,2491,3564	GG,GA,AA		23.9419,30.1407,26.0418		61/204	59483514	3387,9619	2203	4300	6503	SO:0001819	synonymous_variant	220441	exon2			GCCGGGAGGCAGC	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.183T>C	18.37:g.59483514A>G		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_173557	B3KV99|Q52LA4	Silent	SNP	ENST00000312828.3	37	CCDS11978.1																																																																																			A|0.767;G|0.233	0.233	strong		0.622	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		G	59483514	A	G	59483514	2	3	22	1	0	0	0	0	0	0	0	1	13453	291	11	3		3	RNF152	18	59483514	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4149175	59483514	18593734	9241	14349										
PIGN	23556	hgsc.bcm.edu	37	chr18	59810563	59810563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgacatctagcctcttccaAttctccaatctccactctga	3	15	5	2	rs34227891	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59810563A>G	ENST00000357637.5	-	11	1354	c.939T>C	c.(937-939)aaT>aaC	p.N313N	PIGN_ENST00000400334.3_Silent_p.N313N	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	313					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCTCTTCCAATTCTCCAATC	0.299													G|||	872	0.174121	0.1906	0.1671	5008	,	,		15670	0.0764		0.2972	False		,,,				2504	0.1309				p.N313N		Atlas-SNP	.											PIGN,NS,carcinoma,0,1	PIGN	62	1	0			c.T939C						PASS	.	G	,	759,2851		79,601,1125	55	47	50		939,939	-3	0	18	dbSNP_126	50	2141,5965		283,1575,2195	no	coding-synonymous,coding-synonymous	PIGN	NM_012327.5,NM_176787.4	,	362,2176,3320	GG,GA,AA		26.4125,21.0249,24.7525	,	313/932,313/932	59810563	2900,8816	1805	4053	5858	SO:0001819	synonymous_variant	23556	exon11			CTTCCAATTCTCC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.939T>C	18.37:g.59810563A>G		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	168	166	0.988095	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																			A|0.789;G|0.211	0.211	strong		0.299	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		G	59810563	A	G	59810563	2	3	22	1	0	0	0	0	0	0	0	1	11893	98	4	2		2	PIGN	18	59810563	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	327049	59810563	18266685	9242	14350										
PIGN	23556	hgsc.bcm.edu	37	chr18	59814268	59814268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccatcatttccatagaaGtggttaaacatagacacgat	6	9	1	2	rs9320000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59814268G>A	ENST00000357637.5	-	9	1156	c.741C>T	c.(739-741)caC>caT	p.H247H	PIGN_ENST00000400334.3_Silent_p.H247H	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	247					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TTCCATAGAAGTGGTTAAACA	0.318													A|||	2958	0.590655	0.3835	0.683	5008	,	,		16107	0.6974		0.6252	False		,,,				2504	0.6595				p.H247H		Atlas-SNP	.											.	PIGN	62	.	0			c.C741T						PASS	.	A	,	1664,2004		362,940,532	97	87	90		741,741	-3.1	0.1	18	dbSNP_119	90	5077,3091		1589,1899,596	no	coding-synonymous,coding-synonymous	PIGN	NM_012327.5,NM_176787.4	,	1951,2839,1128	AA,AG,GG		37.8428,45.3653,43.0466	,	247/932,247/932	59814268	6741,5095	1834	4084	5918	SO:0001819	synonymous_variant	23556	exon9			ATAGAAGTGGTTA	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.741C>T	18.37:g.59814268G>A		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	167	166	0.994012	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																			G|0.397;A|0.603	0.603	strong		0.318	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		A	59814268	G	A	59814268	2	1	22	1	0	0	0	0	0	0	0	1	11893	1020	36	2		2	PIGN	18	59814268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3705	59814268	18262980	9243	14351										
PIGN	23556	hgsc.bcm.edu	37	chr18	59814324	59814324	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaacttttttaatattgtGcttgtagtctctatttgtaa	5	5	2	0	rs9320001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59814324G>C	ENST00000357637.5	-	9	1100	c.685C>G	c.(685-687)Cac>Gac	p.H229D	PIGN_ENST00000400334.3_Missense_Mutation_p.H229D	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	229			H -> D (in dbSNP:rs9320001). {ECO:0000269|PubMed:15489334}.		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TTAATATTGTGCTTGTAGTCT	0.289													C|||	4243	0.847244	0.885	0.7896	5008	,	,		16424	0.9345		0.7435	False		,,,				2504	0.8538				p.H229D		Atlas-SNP	.											.	PIGN	62	.	0			c.C685G						PASS	.	C	ASP/HIS,ASP/HIS	3151,439		1376,399,20	62	56	58		685,685	3.7	0.9	18	dbSNP_119	58	6121,2011		2320,1481,265	yes	missense,missense	PIGN	NM_012327.5,NM_176787.4	81,81	3696,1880,285	CC,CG,GG		24.7295,12.2284,20.9009	benign,benign	229/932,229/932	59814324	9272,2450	1795	4066	5861	SO:0001583	missense	23556	exon9			TATTGTGCTTGTA	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.685C>G	18.37:g.59814324G>C	ENSP00000350263:p.His229Asp	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	132	132	1	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	1812	0.8296703296703297	433	0.8800813008130082	283	0.7817679558011049	534	0.9335664335664335	562	0.741424802110818	C	0.013	-1.629729	0.00813	0.877716	0.752705	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.68903	-0.36;-0.36	5.5	3.71	0.42584	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.269430	0.42821	N	0.000642	T	0.00012	0.0000	N	0.01140	-0.99	0.49915	P	1.64000000000053E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.35201	-0.9798	8	.	.	.	-1.8571	7.5845	0.27985	0.0:0.6816:0.1197:0.1987	rs9320001;rs17856806;rs52805265;rs9320001	229	O95427	PIGN_HUMAN	D	229	ENSP00000350263:H229D;ENSP00000383188:H229D	.	H	-	1	0	PIGN	57965304	0.997000	0.39634	0.887000	0.34795	0.263000	0.26337	1.765000	0.38481	0.385000	0.24970	-0.187000	0.12897	CAC	G|0.194;C|0.806	0.806	strong		0.289	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		C	59814324	G	C	59814324	3	2	22	1	0	0	0	0	1	0	0	0	11893	1319	46	4	2202	4	PIGN	18	59814324	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56	59814324	18262924	9244	14352										
PIGN	23556	hgsc.bcm.edu	37	chr18	59821843	59821843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaccaaaatcctctctttTagcatcataactatatgtat	3	10	2	0	rs17069506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59821843T>C	ENST00000357637.5	-	7	899	c.484A>G	c.(484-486)Aaa>Gaa	p.K162E	PIGN_ENST00000400334.3_Missense_Mutation_p.K162E	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	162			K -> E (in dbSNP:rs17069506).		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TCCTCTCTTTTAGCATCATAA	0.303													T|||	327	0.0652955	0.0825	0.0389	5008	,	,		16581	0.0724		0.0467	False		,,,				2504	0.0726				p.K162E		Atlas-SNP	.											.	PIGN	62	.	0			c.A484G						PASS	.	T	GLU/LYS,GLU/LYS	273,3391		9,255,1568	142	136	138		484,484	-2.9	0	18	dbSNP_123	138	331,7837		6,319,3759	yes	missense,missense	PIGN	NM_012327.5,NM_176787.4	56,56	15,574,5327	CC,CT,TT		4.0524,7.4509,5.1048	benign,benign	162/932,162/932	59821843	604,11228	1832	4084	5916	SO:0001583	missense	23556	exon7			CTCTTTTAGCATC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.484A>G	18.37:g.59821843T>C	ENSP00000350263:p.Lys162Glu	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	57	27	0.473684	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	125	0.05723443223443223	37	0.07520325203252033	18	0.049723756906077346	42	0.07342657342657342	28	0.036939313984168866	T	0.987	-0.695342	0.03303	0.074509	0.040524	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.27720	1.65;1.65	5.85	-2.88	0.05682	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.586428	0.18563	N	0.137575	T	0.00210	0.0006	N	0.00025	-2.675	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.33137	-0.9880	9	.	.	.	2.542	1.8886	0.03243	0.1166:0.2771:0.3274:0.2789	rs17069506;rs52830051;rs17069506	162;162	B2RCI8;O95427	.;PIGN_HUMAN	E	162	ENSP00000350263:K162E;ENSP00000383188:K162E	.	K	-	1	0	PIGN	57972823	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	0.014000	0.13333	-0.998000	0.03446	0.533000	0.62120	AAA	T|0.938;C|0.062	0.062	strong		0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		C	59821843	T	C	59821843	3	2	22	1	0	0	0	0	1	0	0	0	11893	1763	61	2	2411	2	PIGN	18	59821843	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7519	59821843	18255405	9245	14353										
KIAA1468	57614	hgsc.bcm.edu	37	chr18	59895550	59895550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctacagtgaaatggacttCctcaaaaatgaacactttgc	6	9	2	2	rs151143967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59895550C>T	ENST00000398130.2	+	8	1399	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	KIAA1468_ENST00000256858.6_Silent_p.F389F	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	389										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAATGGACTTCCTCAAAAATG	0.398													C|||	97	0.019369	0.0219	0.0202	5008	,	,		18532	0.003		0.0258	False		,,,				2504	0.0256				p.F389F		Atlas-SNP	.											.	KIAA1468	93	.	0			c.C1167T						PASS	.	C		115,4291	86.3+/-125.0	1,113,2089	108	108	108		1167	3.9	1	18	dbSNP_134	108	227,8373	91.4+/-153.5	1,225,4074	no	coding-synonymous	KIAA1468	NM_020854.3		2,338,6163	TT,TC,CC		2.6395,2.6101,2.6296		389/1217	59895550	342,12664	2203	4300	6503	SO:0001819	synonymous_variant	57614	exon8			GGACTTCCTCAAA	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1167C>T	18.37:g.59895550C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	142	66	0.464789	NM_020854		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																			C|0.978;T|0.022	0.022	strong		0.398	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		T	59895550	C	T	59895550	2	4	22	1	0	0	0	0	0	0	0	1	8236	854	30	2		2	KIAA1468	18	59895550	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73707	59895550	18181698	9246	14354										
KIAA1468	57614	hgsc.bcm.edu	37	chr18	59941254	59941254	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttggattcttagaagatgtAatgacgctgctttcattatc	9	6	2	3	rs17069686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:59941254A>C	ENST00000398130.2	+	21	3034	c.2802A>C	c.(2800-2802)gtA>gtC	p.V934V	KIAA1468_ENST00000256858.6_Silent_p.V968V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	934										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAGAAGATGTAATGACGCTGC	0.363													A|||	301	0.0601038	0.084	0.0504	5008	,	,		15040	0.005		0.0686	False		,,,				2504	0.0828				p.V934V		Atlas-SNP	.											.	KIAA1468	93	.	0			c.A2802C						PASS	.	A		347,4059	178.7+/-207.4	10,327,1866	142	136	138		2802	3.8	1	18	dbSNP_123	138	599,8001	157.0+/-210.8	25,549,3726	no	coding-synonymous	KIAA1468	NM_020854.3		35,876,5592	CC,CA,AA		6.9651,7.8756,7.2736		934/1217	59941254	946,12060	2203	4300	6503	SO:0001819	synonymous_variant	57614	exon21			AGATGTAATGACG	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2802A>C	18.37:g.59941254A>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	131	42	0.320611	NM_020854		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																			A|0.938;C|0.062	0.062	strong		0.363	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		C	59941254	A	C	59941254	2	2	22	1	0	0	0	0	0	0	0	1	8236	349	13	5		5	KIAA1468	18	59941254	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45704	59941254	18135994	9247	14355										
TNFRSF11A	8792	hgsc.bcm.edu	37	chr18	60036547	60036547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcgtgggttccccaaaacGtggacccttgccccagtgcg	11	16	0	0	rs35993683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:60036547G>A	ENST00000586569.1	+	9	1435	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	466					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TCCCCAAAACGTGGACCCTTG	0.662													G|||	61	0.0121805	0.0439	0.0043	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.0				p.R466H		Atlas-SNP	.											.	TNFRSF11A	51	.	0			c.G1397A						PASS	.	G	HIS/ARG	142,4260		0,142,2059	37	38	38		1397	-0.8	0.1	18	dbSNP_126	38	1,8587		0,1,4293	yes	missense	TNFRSF11A	NM_003839.2	29	0,143,6352	AA,AG,GG		0.0116,3.2258,1.1008	benign	466/617	60036547	143,12847	2201	4294	6495	SO:0001583	missense	8792	exon9			CAAAACGTGGACC	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1397G>A	18.37:g.60036547G>A	ENSP00000465500:p.Arg466His	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_003839	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	G	12.75	2.032926	0.35893	0.032258	1.16E-4	ENSG00000141655	ENST00000269485	.	.	.	5.03	-0.8	0.10897	.	3.161140	0.01102	N	0.005394	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11155	-1.0599	8	.	.	.	0.0539	6.8356	0.23935	0.4461:0.1218:0.4321:0.0	rs35993683;rs61751991	466	Q9Y6Q6	TNR11_HUMAN	H	466	.	.	R	+	2	0	TNFRSF11A	58187527	0.037000	0.19845	0.081000	0.20488	0.362000	0.29581	-0.004000	0.12878	-0.089000	0.12484	-0.244000	0.11960	CGT	G|0.989;A|0.011	0.011	strong		0.662	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			A	60036547	G	A	60036547	3	1	22	1	0	0	0	0	1	0	0	0	16281	1145	40	1	1431	1	TNFRSF11A	18	60036547	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95293	60036547	18040701	9248	14356										
ZCCHC2	54877	hgsc.bcm.edu	37	chr18	60227833	60227833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttctagatgtgttgcagcaTgccataatccacaagaagca	8	10	1	2	rs17070100	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:60227833T>C	ENST00000269499.5	+	8	1924	c.1506T>C	c.(1504-1506)caT>caC	p.H502H	ZCCHC2_ENST00000586834.1_Silent_p.H181H	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	502						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGTTGCAGCATGCCATAATCC	0.353													t|||	566	0.113019	0.2322	0.0908	5008	,	,		18793	0.003		0.1103	False		,,,				2504	0.0838				p.H502H		Atlas-SNP	.											.	ZCCHC2	64	.	0			c.T1506C						PASS	.	T		822,2894		95,632,1131	196	168	177		1506	-1	0.8	18	dbSNP_123	177	939,7267		59,821,3223	no	coding-synonymous	ZCCHC2	NM_017742.4		154,1453,4354	CC,CT,TT		11.4428,22.1206,14.771		502/1179	60227833	1761,10161	1858	4103	5961	SO:0001819	synonymous_variant	54877	exon8			GCAGCATGCCATA	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1506T>C	18.37:g.60227833T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	160	74	0.4625	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	CCDS45880.1																																																																																			T|0.893;C|0.107	0.107	strong		0.353	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		C	60227833	T	C	60227833	2	2	22	1	0	0	0	0	0	0	0	1	17584	1461	51	2		2	ZCCHC2	18	60227833	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	191286	60227833	17849415	9249	14357										
SERPINB12	89777	hgsc.bcm.edu	37	chr18	61234091	61234091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgtggaggtggatgaaaaCggtacccaggcagctgcagc	15	8	0	1	rs35623491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61234091C>T	ENST00000269491.1	+	7	1065	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	SERPINB12_ENST00000382768.1_Silent_p.N375N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	355					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGGATGAAAACGGTACCCAGG	0.453													C|||	184	0.0367412	0.1316	0.0101	5008	,	,		20333	0.0		0.003	False		,,,				2504	0.0				p.N355N		Atlas-SNP	.											.	SERPINB12	55	.	0			c.C1065T						PASS	.	C		482,3924	226.2+/-241.8	30,422,1751	78	82	80		1065	-4.4	0.1	18	dbSNP_126	80	1,8599		0,1,4299	no	coding-synonymous	SERPINB12	NM_080474.1		30,423,6050	TT,TC,CC		0.0116,10.9396,3.7137		355/406	61234091	483,12523	2203	4300	6503	SO:0001819	synonymous_variant	89777	exon7			TGAAAACGGTACC	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1065C>T	18.37:g.61234091C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	74	35	0.472973	NM_080474	Q3SYB4	Silent	SNP	ENST00000269491.1	37	CCDS11984.1																																																																																			C|0.962;T|0.038	0.038	strong		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		T	61234091	C	T	61234091	2	4	22	1	0	0	0	0	0	0	0	1	14099	535	19	1		1	SERPINB12	18	61234091	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1006258	61234091	16843157	9250	14358										
SERPINB12	89777	hgsc.bcm.edu	37	chr18	61234144	61234144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctcggaaaggtcactacGatcttgggtggagtttaatg	13	6	3	0	rs56812375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61234144G>A	ENST00000269491.1	+	7	1118	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R393Q	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	373					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGGTCACTACGATCTTGGGTG	0.453													G|||	172	0.034345	0.1256	0.0086	5008	,	,		21067	0.0		0.0	False		,,,				2504	0.0				p.R373Q		Atlas-SNP	.											SERPINB12,colon,carcinoma,0,1	SERPINB12	55	1	0			c.G1118A						PASS	.	G	GLN/ARG	455,3951	218.1+/-236.3	27,401,1775	78	77	77		1118	3.3	0	18	dbSNP_129	77	1,8599		0,1,4299	yes	missense	SERPINB12	NM_080474.1	43	27,402,6074	AA,AG,GG		0.0116,10.3268,3.5061	benign	373/406	61234144	456,12550	2203	4300	6503	SO:0001583	missense	89777	exon7			CACTACGATCTTG	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1118G>A	18.37:g.61234144G>A	ENSP00000269491:p.Arg373Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	72	33	0.458333	NM_080474	Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	46	0.021062271062271064	43	0.08739837398373984	3	0.008287292817679558	0	0.0	0	0.0	G	6.154	0.396700	0.11638	0.103268	1.16E-4	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84146	-1.81;-1.81	6.01	3.29	0.37713	Serpin domain (3);	2.339550	0.01636	N	0.023778	T	0.08179	0.0204	N	0.16656	0.425	0.09310	N	1	B;B	0.26363	0.147;0.004	B;B	0.29524	0.103;0.001	T	0.49303	-0.8954	10	0.12766	T	0.61	.	7.6332	0.28251	0.0:0.6835:0.1241:0.1924	rs56812375;rs61741590	393;373	Q3SYB4;Q96P63	.;SPB12_HUMAN	Q	373;393	ENSP00000269491:R373Q;ENSP00000372218:R393Q	ENSP00000269491:R373Q	R	+	2	0	SERPINB12	59385124	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.232000	0.09055	0.892000	0.36259	-0.133000	0.14855	CGA	G|0.972;A|0.028	0.028	strong		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		A	61234144	G	A	61234144	3	1	22	1	0	0	0	0	1	0	0	0	14099	1058	37	1	1144	1	SERPINB12	18	61234144	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53	61234144	16843104	9251	14359										
SERPINB4	6318	hgsc.bcm.edu	37	chr18	61310738	61310738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggggaatagaagatgttgTtctcttttgattttctgaac	10	4	2	4	rs55883719	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61310738T>C	ENST00000341074.5	-	2	189	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.N25S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	25					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GAAGATGTTGTTCTCTTTTGA	0.428													T|||	278	0.0555112	0.1989	0.0144	5008	,	,		19831	0.0		0.004	False		,,,				2504	0.001				p.N25S		Atlas-SNP	.											.	SERPINB4	89	.	0			c.A74G						PASS	.	T	SER/ASN	663,3743	282.2+/-276.4	47,569,1587	277	244	255		74	1.3	0	18	dbSNP_129	255	13,8587	9.8+/-36.6	0,13,4287	no	missense	SERPINB4	NM_002974.2	46	47,582,5874	CC,CT,TT		0.1512,15.0477,5.1976		25/391	61310738	676,12330	2203	4300	6503	SO:0001583	missense	6318	exon2			ATGTTGTTCTCTT	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.74A>G	18.37:g.61310738T>C	ENSP00000343445:p.Asn25Ser	Somatic	550	0	0		WXS	Illumina HiSeq	Phase_I	547	254	0.464351	NM_002974	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	97|97	0.044413919413919416|0.044413919413919416	89|89	0.18089430894308944|0.18089430894308944	6|6	0.016574585635359115|0.016574585635359115	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	T|T	4.847|4.847	0.157400|0.157400	0.09236|0.09236	0.150477|0.150477	0.001512|0.001512	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.83837|.	-1.77;-1.77;-1.77|.	3.83|3.83	1.31|1.31	0.21738|0.21738	Serpin domain (3);|.	1.227650|.	0.06602|.	N|.	0.754050|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.20445|0.20445	0.575|0.575	0.80722|0.80722	P|P	0.0|0.0	B;P|.	0.36183|.	0.102;0.542|.	B;B|.	0.34991|.	0.108;0.193|.	T|T	0.22836|0.22836	-1.0205|-1.0205	9|4	0.66056|.	D|.	0.02|.	.|.	4.2735|4.2735	0.10797|0.10797	0.0:0.277:0.1709:0.5521|0.0:0.277:0.1709:0.5521	rs55883719|rs55883719	25;25|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	S|A	25|27	ENSP00000343445:N25S;ENSP00000348795:N25S;ENSP00000399796:N25S|.	ENSP00000343445:N25S|.	N|T	-|-	2|1	0|0	SERPINB4|SERPINB4	59461718|59461718	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.034000|0.034000	0.12701|0.12701	-0.758000|-0.758000	0.04766|0.04766	0.168000|0.168000	0.19655|0.19655	0.416000|0.416000	0.27883|0.27883	AAC|ACA	.	.	weak		0.428	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		C	61310738	T	C	61310738	3	2	22	1	0	0	0	0	1	0	0	0	14103	1725	60	2	1126	2	SERPINB4	18	61310738	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	76594	61310738	16766510	9252	14360										
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61322998	61322998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttcattagttgaagtagGtgatgatccgaatcctacta	8	8	2	3	rs73962331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61322998G>A	ENST00000283752.5	-	8	1209	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.P304S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	356					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTGAAGTAGGTGATGATCCG	0.463													G|||	286	0.0571086	0.205	0.0144	5008	,	,		20255	0.0		0.004	False		,,,				2504	0.001				p.P356S		Atlas-SNP	.											.	SERPINB3	90	.	0			c.C1066T						PASS	.	G	SER/PRO	674,3732	277.2+/-273.6	53,568,1582	145	147	147		1066	0.5	0	18	dbSNP_130	147	15,8585	9.8+/-36.6	0,15,4285	yes	missense	SERPINB3	NM_006919.2	74	53,583,5867	AA,AG,GG		0.1744,15.2973,5.2976	benign	356/391	61322998	689,12317	2203	4300	6503	SO:0001583	missense	6317	exon8			AAGTAGGTGATGA	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1066C>T	18.37:g.61322998G>A	ENSP00000283752:p.Pro356Ser	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	203	71	0.349754	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	99	0.04532967032967033	91	0.18495934959349594	6	0.016574585635359115	0	0.0	2	0.002638522427440633	G	1.994	-0.431080	0.04669	0.152973	0.001744	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.83673	-1.75;-1.75	2.96	0.496	0.16896	Serpin domain (3);	3.431400	0.01103	N	0.005437	T	0.00178	0.0005	N	0.02181	-0.65	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45483	-0.9258	9	0.02654	T	1	.	2.8087	0.05435	0.6154:0.1428:0.1014:0.1403	.	304;356	P29508-2;P29508	.;SPB3_HUMAN	S	356;304	ENSP00000283752:P356S;ENSP00000329498:P304S	ENSP00000283752:P356S	P	-	1	0	SERPINB3	59473978	0.018000	0.18449	0.004000	0.12327	0.000000	0.00434	0.503000	0.22610	0.107000	0.17824	-1.316000	0.01300	CCT	G|0.948;A|0.052	0.052	strong		0.463	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		A	61322998	G	A	61322998	3	1	22	1	0	0	0	0	1	0	0	0	14102	1261	44	2	110	2	SERPINB3	18	61322998	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12260	61322998	16754250	9253	14361										
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61323011	61323012	+	Frame_Shift_Ins	INS	-	-	GCCA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtaggtgatgatccgaatINScctactacagcggtggcagc					rs60533853|rs3180227|rs386804125|rs72132327	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61323011_61323012insGCCA	ENST00000283752.5	-	8	1195_1196	c.1052_1053insTGGC	c.(1051-1053)ggafs	p.G351fs	SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.G299fs|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	351			G -> A (increased antiprotease activity and increased MAPK8 inhibition activity; dbSNP:rs3180227). {ECO:0000269|PubMed:12975381, ECO:0000269|PubMed:14970861, ECO:0000269|PubMed:21383048, ECO:0000269|Ref.6}.		negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGATCCGAATCCTACTACAGC	0.49																																					p.G351fs		Atlas-Indel	.											.	SERPINB3	90	.	0			c.1053_1054insTGGC						PASS	.																																			SO:0001589	frameshift_variant	6317	exon8			.	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1052_1053insTGGC	18.37:g.61323011_61323012insGCCA	ENSP00000283752:p.Gly351fs	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	192	49	0.255208	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Ins	INS	ENST00000283752.5	37	CCDS11987.1																																																																																			.	.	alt		0.49	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		GCCA	61323012	-	GCCA	61323011	7	5	22	1	0	1	1	0	0	0	0	0	14102	1422	50	0	123	0	SERPINB3	18	61323011	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	13	61323011	16754237	9254	14362	295	3								
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61323012	61323014	+	In_Frame_Del	DEL	CCT	CCT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtaggtgatgatccgaatCctactacagcggtggcagct					rs3180227|rs60286570|rs386804125|rs72132327|rs201374310	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61323012_61323014delCCT	ENST00000283752.5	-	8	1193_1195	c.1050_1052delAGG	c.(1048-1053)gtagga>gta	p.G351del	SERPINB3_ENST00000332821.8_In_Frame_Del_p.G299del|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	351			G -> A (increased antiprotease activity and increased MAPK8 inhibition activity; dbSNP:rs3180227). {ECO:0000269|PubMed:12975381, ECO:0000269|PubMed:14970861, ECO:0000269|PubMed:21383048, ECO:0000269|Ref.6}.		negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGATCCGAATCCTACTACAGCGG	0.488																																					p.351_351del		Pindel	.											.	SERPINB3	90	.	0			c.1051_1053del						PASS	.																																			SO:0001651	inframe_deletion	6317	exon8			.	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1050_1052delAGG	18.37:g.61323012_61323014delCCT	ENSP00000283752:p.Gly351del	Somatic	211	.	.		WXS	Illumina HiSeq	Phase_I	190	42	0.221	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	In_Frame_Del	DEL	ENST00000283752.5	37	CCDS11987.1																																																																																			.	.	alt		0.488	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		-	61323014	CCT	-	61323012	7	5	22	1	0	1	0	1	0	0	0	0	14102	855	30	0	124	0	SERPINB3	18	61323012	In_Frame_Del	DEL	CCT	TCGA-G8-6324-01A-11D-2210-10	1	61323012	16754236	9255	14363	295	3								
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61323014	61323014	+	Frame_Shift_Del	DEL	T	T	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaggtgatgatccgaatccTactacagcggtggcagctgc					rs201374310|rs386804125|rs60286570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61323014delT	ENST00000283752.5	-	8	1193	c.1050delA	c.(1048-1050)gtafs	p.V350fs	SERPINB3_ENST00000332821.8_Frame_Shift_Del_p.V298fs|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	350					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCCGAATCCTACTACAGCGG	0.493																																					p.G351fs		Atlas-Indel	.											.	SERPINB3	90	.	0			c.1051delG						PASS	.			402,3860		46,310,1775	115	125	122			-4	0	18	dbSNP_130	124	9,8245		0,9,4118	no	frameshift	SERPINB3	NM_006919.2		46,319,5893	A1A1,A1R,RR		0.109,9.4322,3.2838			61323014	411,12105	2202	4300	6502	SO:0001589	frameshift_variant	6317	exon8			.	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1050delA	18.37:g.61323014delT	ENSP00000283752:p.Val350fs	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	182	49	0.269231	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Del	DEL	ENST00000283752.5	37	CCDS11987.1																																																																																			T|0.960;-|0.040	0.040	strong		0.493	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		-	61323014	T	-	61323014	7	5	22	1	0	1	0	1	0	0	0	0	14102	1509	53	0	126	0	SERPINB3	18	61323014	Frame_Shift_Del	DEL	T	TCGA-G8-6324-01A-11D-2210-10	2	61323014	16754234	9256	14364	295	3								
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61323228	61323228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtaagtgtaaatcgacaCgtgtctctctcatattctgc	9	9	3	0	rs61748838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61323228C>G	ENST00000283752.5	-	8	979	c.836G>C	c.(835-837)cGt>cCt	p.R279P	SERPINB3_ENST00000332821.8_Missense_Mutation_p.R227P|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	279					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TAAATCGACACGTGTCTCTCT	0.413													c|||	286	0.0571086	0.205	0.0144	5008	,	,		20730	0.0		0.004	False		,,,				2504	0.001				p.R279P		Atlas-SNP	.											SERPINB3,caecum,carcinoma,0,1	SERPINB3	90	1	0			c.G836C						PASS	.	G	PRO/ARG	699,3707	292.4+/-282.0	53,593,1557	149	127	135		836	-0.9	0	18	dbSNP_129	135	15,8585	9.8+/-36.6	0,15,4285	no	missense	SERPINB3	NM_006919.2	103	53,608,5842	GG,GC,CC		0.1744,15.8647,5.4898	benign	279/391	61323228	714,12292	2203	4300	6503	SO:0001583	missense	6317	exon8			TCGACACGTGTCT	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.836G>C	18.37:g.61323228C>G	ENSP00000283752:p.Arg279Pro	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	230	121	0.526087	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	100	0.045787545787545784	92	0.18699186991869918	6	0.016574585635359115	0	0.0	2	0.002638522427440633	c	9.127	1.010414	0.19277	0.158647	0.001744	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84944	-1.92;-1.92	3.07	-0.89	0.10577	Serpin domain (3);	4.332970	0.00769	N	0.001198	T	0.00300	0.0009	N	0.16368	0.405	0.80722	P	0.0	B;B	0.20164	0.042;0.0	B;B	0.33454	0.164;0.007	T	0.36529	-0.9744	9	0.66056	D	0.02	.	0.3718	0.00381	0.2731:0.1823:0.1396:0.405	rs61748838	227;279	P29508-2;P29508	.;SPB3_HUMAN	P	279;227	ENSP00000283752:R279P;ENSP00000329498:R227P	ENSP00000283752:R279P	R	-	2	0	SERPINB3	59474208	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.785000	0.04628	-0.480000	0.06803	-2.438000	0.00212	CGT	C|0.940;G|0.060	0.060	strong		0.413	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		G	61323228	C	G	61323228	3	3	22	1	0	0	0	0	1	0	0	0	14102	536	19	4	340	4	SERPINB3	18	61323228	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	214	61323228	16754020	9257	14365										
SERPINB7	8710	hgsc.bcm.edu	37	chr18	61471593	61471593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaattatgaaatgaaacaAtatttgagagccctagggct	9	5	0	4	rs11873045	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61471593A>G	ENST00000398019.2	+	8	1192	c.867A>G	c.(865-867)caA>caG	p.Q289Q	SERPINB7_ENST00000336429.2_Silent_p.Q289Q|SERPINB7_ENST00000546027.1_Silent_p.Q289Q|SERPINB7_ENST00000540675.1_Silent_p.Q272Q	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	289					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAATGAAACAATATTTGAGAG	0.398													A|||	252	0.0503195	0.18	0.0173	5008	,	,		18557	0.0		0.002	False		,,,				2504	0.0				p.Q289Q		Atlas-SNP	.											.	SERPINB7	66	.	0			c.A867G						PASS	.	A	,	699,3707	288.4+/-279.8	52,595,1556	49	51	50		867,867	-1.4	0	18	dbSNP_120	50	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous	SERPINB7	NM_001040147.1,NM_003784.2	,	52,601,5850	GG,GA,AA		0.0698,15.8647,5.4206	,	289/381,289/381	61471593	705,12301	2203	4300	6503	SO:0001819	synonymous_variant	8710	exon8			GAAACAATATTTG	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.867A>G	18.37:g.61471593A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	60	35	0.583333	NM_001261830	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	CCDS11988.1																																																																																			A|0.943;G|0.057	0.057	strong		0.398	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		G	61471593	A	G	61471593	2	3	22	1	0	0	0	0	0	0	0	1	14106	98	4	2		2	SERPINB7	18	61471593	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	148365	61471593	16605655	9258	14366										
SERPINB2	5055	hgsc.bcm.edu	37	chr18	61565014	61565014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaaccccaggcagtagaCttcctagaatgtgcagaaga	10	10	1	5	rs6106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61565014C>T	ENST00000299502.4	+	5	551	c.471C>T	c.(469-471)gaC>gaT	p.D157D	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.D157D	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	157					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AGGCAGTAGACTTCCTAGAAT	0.343													C|||	313	0.0625	0.2216	0.0259	5008	,	,		19658	0.0		0.002	False		,,,				2504	0.0				p.D157D		Atlas-SNP	.											.	SERPINB2	63	.	0			c.C471T						PASS	.	C	,	781,3625	308.0+/-290.3	67,647,1489	62	67	65		471,471	2.9	0.9	18	dbSNP_52	65	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	SERPINB2	NM_001143818.1,NM_002575.2	,	67,659,5777	TT,TC,CC		0.1395,17.7258,6.0972	,	157/416,157/416	61565014	793,12213	2203	4300	6503	SO:0001819	synonymous_variant	5055	exon5			AGTAGACTTCCTA	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.471C>T	18.37:g.61565014C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	214	106	0.495327	NM_002575	Q96E96	Silent	SNP	ENST00000299502.4	37	CCDS11989.1	130	0.05952380952380952	117	0.23780487804878048	12	0.03314917127071823	0	0.0	1	0.0013192612137203166	C	8.325	0.825088	0.16678	0.177258	0.001395	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.6	2.87	0.33458	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.09552	-1.0669	3	.	.	.	.	8.4939	0.33117	0.0:0.7035:0.0:0.2965	rs6106;rs6106	.	.	.	F	34	.	.	L	+	1	0	SERPINB10	59715994	1.000000	0.71417	0.946000	0.38457	0.866000	0.49608	0.916000	0.28651	0.418000	0.25898	-0.142000	0.14014	CTT	C|0.933;T|0.067	0.067	strong		0.343	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		T	61565014	C	T	61565014	2	4	22	1	0	0	0	0	0	0	0	1	14101	564	20	2		2	SERPINB2	18	61565014	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93421	61565014	16512234	9259	14367										
SERPINB10	5273	hgsc.bcm.edu	37	chr18	61587053	61587053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacatgaaaacatattttgGtgcagaacctcagcctgtta	8	8	1	3	rs17072146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61587053G>A	ENST00000238508.3	+	5	463	c.404G>A	c.(403-405)gGt>gAt	p.G135D		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	135			G -> D (in dbSNP:rs17072146).		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ACATATTTTGGTGCAGAACCT	0.353													G|||	858	0.171326	0.357	0.0836	5008	,	,		18431	0.2123		0.0258	False		,,,				2504	0.09				p.G135D		Atlas-SNP	.											.	SERPINB10	53	.	0			c.G404A						PASS	.	G	ASP/GLY	1268,3138	425.3+/-340.8	198,872,1133	71	85	80		404	3.4	0.9	18	dbSNP_123	80	133,8465	67.3+/-129.8	3,127,4169	yes	missense	SERPINB10	NM_005024.1	94	201,999,5302	AA,AG,GG		1.5469,28.7789,10.7736		135/398	61587053	1401,11603	2203	4299	6502	SO:0001583	missense	5273	exon4			ATTTTGGTGCAGA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.404G>A	18.37:g.61587053G>A	ENSP00000238508:p.Gly135Asp	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	56	19	0.339286	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	344	0.1575091575091575	170	0.34552845528455284	28	0.07734806629834254	126	0.2202797202797203	20	0.026385224274406333	G	8.459	0.854792	0.17106	0.287789	0.015469	ENSG00000242550	ENST00000238508	D	0.83075	-1.68	5.33	3.43	0.39272	Serpin domain (3);	0.679950	0.15625	N	0.252701	T	0.00012	0.0000	L	0.48218	1.51	0.44966	P	0.0020120000000000138	B	0.29162	0.235	B	0.32465	0.146	T	0.10337	-1.0634	9	0.18276	T	0.48	.	6.6626	0.23022	0.0955:0.1799:0.7246:0.0	rs17072146;rs17072146	135	P48595	SPB10_HUMAN	D	135	ENSP00000238508:G135D	ENSP00000238508:G135D	G	+	2	0	SERPINB10	59738033	0.991000	0.36638	0.908000	0.35775	0.989000	0.77384	1.363000	0.34159	1.257000	0.44085	0.655000	0.94253	GGT	G|0.856;A|0.144	0.144	strong		0.353	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		A	61587053	G	A	61587053	3	1	22	1	0	0	0	0	1	0	0	0	14097	1261	44	2	418	2	SERPINB10	18	61587053	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22039	61587053	16490195	9260	14368										
SERPINB8	5271	hgsc.bcm.edu	37	chr18	61654297	61654297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacttttctggaatgtcaActgagaagaatgtgcctctg	10	8	3	3	rs3169983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:61654297A>G	ENST00000397985.2	+	7	1166	c.910A>G	c.(910-912)Act>Gct	p.T304A	SERPINB8_ENST00000542677.1_Missense_Mutation_p.T122A|SERPINB8_ENST00000353706.2_Missense_Mutation_p.T304A|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	304			T -> A (in dbSNP:rs3169983). {ECO:0000269|PubMed:17974005}.		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGGAATGTCAACTGAGAAGAA	0.498													A|||	889	0.177516	0.2648	0.0663	5008	,	,		19756	0.1756		0.0716	False		,,,				2504	0.2495				p.T304A		Atlas-SNP	.											.	SERPINB8	42	.	0			c.A910G						PASS	.	A	ALA/THR,ALA/THR	941,3465	358.6+/-314.5	109,723,1371	116	98	104		910,910	-1	0	18	dbSNP_105	104	785,7815	185.3+/-233.1	45,695,3560	yes	missense,missense	SERPINB8	NM_002640.3,NM_198833.1	58,58	154,1418,4931	GG,GA,AA		9.1279,21.3572,13.2708	benign,benign	304/375,304/375	61654297	1726,11280	2203	4300	6503	SO:0001583	missense	5271	exon7			ATGTCAACTGAGA	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.910A>G	18.37:g.61654297A>G	ENSP00000381072:p.Thr304Ala	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	137	65	0.474453	NM_198833	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	314	0.14377289377289376	109	0.22154471544715448	26	0.0718232044198895	127	0.22202797202797203	52	0.06860158311345646	A	5.544	0.285312	0.10513	0.213572	0.091279	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.82255	-1.59;-1.59;2.81	5.65	-1.01	0.10169	Serpin domain (3);	0.744591	0.13300	N	0.398299	T	0.00039	0.0001	N	0.05199	-0.095	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.02821	-1.1106	9	0.09338	T	0.73	.	1.3588	0.02187	0.323:0.1099:0.3293:0.2378	rs3169983;rs3744957;rs3169983	304	P50452	SPB8_HUMAN	A	304;304;122	ENSP00000381072:T304A;ENSP00000331368:T304A;ENSP00000438328:T122A	ENSP00000331368:T304A	T	+	1	0	SERPINB8	59805277	0.000000	0.05858	0.001000	0.08648	0.870000	0.49936	0.113000	0.15499	-0.053000	0.13289	0.533000	0.62120	ACT	A|0.851;G|0.149	0.149	strong		0.498	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		G	61654297	A	G	61654297	3	3	22	1	0	0	0	0	1	0	0	0	14107	43	2	2	945	2	SERPINB8	18	61654297	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67244	61654297	16422951	9261	14369										
CDH19	28513	hgsc.bcm.edu	37	chr18	64235877	64235877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctttcatcaatgataaaaGtacttccagctccagctccc	4	13	3	1	rs114375304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:64235877G>A	ENST00000540086.1	-	3	512	c.266C>T	c.(265-267)aCt>aTt	p.T89I	CDH19_ENST00000262150.2_Missense_Mutation_p.T89I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	190	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AATGATAAAAGTACTTCCAGC	0.398													G|||	71	0.0141773	0.0499	0.0072	5008	,	,		16014	0.0		0.0	False		,,,				2504	0.0				p.T89I		Atlas-SNP	.											CDH19,NS,carcinoma,-1,1	CDH19	141	1	0			c.C266T						PASS	.	G	ILE/THR	266,4140	150.3+/-184.3	15,236,1952	94	93	94		266	1.9	0.1	18	dbSNP_132	94	2,8594	2.2+/-6.3	0,2,4296	yes	missense	CDH19	NM_021153.2	89	15,238,6248	AA,AG,GG		0.0233,6.0372,2.0612	benign	89/773	64235877	268,12734	2203	4298	6501	SO:0001583	missense	28513	exon3			ATAAAAGTACTTC	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.266C>T	18.37:g.64235877G>A	ENSP00000439593:p.Thr89Ile	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	107	49	0.457944	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	29	0.013278388278388278	26	0.052845528455284556	3	0.008287292817679558	0	0.0	0	0.0	G	9.972	1.225826	0.22542	0.060372	2.33E-4	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.51817	0.69;0.69	5.48	1.91	0.25777	Cadherin (5);Cadherin-like (1);	0.572976	0.18606	N	0.136310	T	0.01661	0.0053	N	0.02665	-0.54	0.22127	N	0.999345	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19943	-1.0290	10	0.02654	T	1	.	7.9396	0.29950	0.7547:0.0:0.2453:0.0	.	89;89	F5H1K0;Q9H159	.;CAD19_HUMAN	I	89;89;34	ENSP00000262150:T89I;ENSP00000439593:T89I	ENSP00000262150:T89I	T	-	2	0	CDH19	62386857	0.762000	0.28451	0.145000	0.22337	0.830000	0.47004	3.161000	0.50747	0.396000	0.25283	-0.469000	0.05056	ACT	G|0.980;A|0.020	0.020	strong		0.398	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		A	64235877	G	A	64235877	3	1	22	1	0	0	0	0	1	0	0	0	3104	1029	36	2	2092	2	CDH19	18	64235877	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2581580	64235877	13841371	9262	14370										
DSEL	92126	hgsc.bcm.edu	37	chr18	65180706	65180706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgaagagtactccacctTtgggcagttgaaggaaccat	12	8	0	3	rs9959648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:65180706T>C	ENST00000310045.7	-	2	2643	c.1170A>G	c.(1168-1170)caA>caG	p.Q390Q	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	380					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TACTCCACCTTTGGGCAGTTG	0.443													T|||	189	0.0377396	0.1362	0.013	5008	,	,		18891	0.0		0.0	False		,,,				2504	0.0				p.Q390Q		Atlas-SNP	.											.	DSEL	196	.	0			c.A1170G						PASS	.	T		566,3840	252.7+/-259.0	39,488,1676	117	104	108		1170	0.4	1	18	dbSNP_119	108	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	DSEL	NM_032160.2		39,491,5973	CC,CT,TT		0.0349,12.8461,4.3749		390/1223	65180706	569,12437	2203	4300	6503	SO:0001819	synonymous_variant	92126	exon2			CCACCTTTGGGCA	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1170A>G	18.37:g.65180706T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_032160	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																			T|0.949;C|0.051	0.051	strong		0.443	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		C	65180706	T	C	65180706	2	2	22	1	0	0	0	0	0	0	0	1	4775	1838	64	2		2	DSEL	18	65180706	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	944829	65180706	12896542	9263	14371										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66542006	66542006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaaagacagagtgatttGtgagttaagagcagaggtaa	13	4	0	6	rs745894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:66542006G>T	ENST00000360242.5	+	5	1154	c.1037G>T	c.(1036-1038)tGt>tTt	p.C346F	CCDC102B_ENST00000358653.5_Missense_Mutation_p.C346F|CCDC102B_ENST00000584156.1_Missense_Mutation_p.C346F|CCDC102B_ENST00000319445.6_Missense_Mutation_p.C346F|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	346			C -> F (in dbSNP:rs745894).							breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGTGATTTGTGAGTTAAGA	0.343													G|||	980	0.195687	0.2882	0.183	5008	,	,		19580	0.1349		0.1382	False		,,,				2504	0.2014				p.C346F		Atlas-SNP	.											.	CCDC102B	92	.	0			c.G1037T						PASS	.	G	PHE/CYS,PHE/CYS	1245,3161	410.6+/-335.4	181,883,1139	94	84	87		1037,1037	-8.9	0	18	dbSNP_86	87	1411,7189	260.1+/-283.0	120,1171,3009	yes	missense,missense	CCDC102B	NM_001093729.1,NM_024781.2	205,205	301,2054,4148	TT,TG,GG		16.407,28.2569,20.4213	benign,benign	346/514,346/514	66542006	2656,10350	2203	4300	6503	SO:0001583	missense	79839	exon7			TGATTTGTGAGTT	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1037G>T	18.37:g.66542006G>T	ENSP00000353377:p.Cys346Phe	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	388	0.17765567765567766	134	0.27235772357723576	65	0.17955801104972377	72	0.1258741258741259	117	0.15435356200527706	g	0.046	-1.267362	0.01433	0.282569	0.16407	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.18016	2.74;2.24;2.74	4.44	-8.87	0.00792	.	1.308000	0.05188	N	0.502572	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.36744	-0.9735	9	0.51188	T	0.08	1.5173	3.5613	0.07884	0.17:0.2251:0.493:0.112	rs745894;rs52804194;rs60683492;rs745894	346;346	Q68D86-3;Q68D86	.;C102B_HUMAN	F	346	ENSP00000316237:C346F;ENSP00000351479:C346F;ENSP00000353377:C346F	ENSP00000316237:C346F	C	+	2	0	CCDC102B	64692986	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.379000	0.00243	-1.839000	0.01186	-0.218000	0.12543	TGT	G|0.804;T|0.196	0.196	strong		0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66542006	G	T	66542006	3	4	22	1	0	0	0	0	1	0	0	0	2737	1377	48	4	1051	4	CCDC102B	18	66542006	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1361300	66542006	11535242	9264	14372										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66678182	66678182	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttgaaaggaattactgaaCcttcaacatgcctactataa					rs17080065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:66678182C>A	ENST00000360242.5	+	7	1392	c.1275C>A	c.(1273-1275)aaC>aaA	p.N425K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.N425K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.N425K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	425			N -> K (in dbSNP:rs17080065).							breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AATTACTGAACCTTCAACATG	0.323													C|||	129	0.0257588	0.093	0.0086	5008	,	,		17732	0.0		0.0	False		,,,				2504	0.0				p.N425K		Atlas-SNP	.											.	CCDC102B	92	.	0			c.C1275A						PASS	.	C	LYS/ASN,LYS/ASN	354,4052	155.5+/-188.7	19,316,1868	62	60	60		1275,1275	-3.1	0	18	dbSNP_123	60	3,8597	1.2+/-3.3	0,3,4297	yes	missense,missense	CCDC102B	NM_001093729.1,NM_024781.2	94,94	19,319,6165	AA,AC,CC		0.0349,8.0345,2.7449	benign,benign	425/514,425/514	66678182	357,12649	2203	4300	6503	SO:0001583	missense	79839	exon9			ACTGAACCTTCAA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1275C>A	18.37:g.66678182C>A	ENSP00000353377:p.Asn425Lys	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	88	50	0.568182	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	47	0.02152014652014652	44	0.08943089430894309	3	0.008287292817679558	0	0.0	0	0.0	C	5.485	0.274466	0.10403	0.080345	3.49E-4	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.11169	2.8;2.8	5.4	-3.11	0.05299	.	1.868220	0.02591	N	0.099920	T	0.00241	0.0007	N	0.22421	0.69	0.34315	D	0.685947	B	0.26400	0.148	B	0.24394	0.053	T	0.37572	-0.9700	10	0.10902	T	0.67	1.3033	1.8352	0.03138	0.4717:0.2442:0.0991:0.185	rs17080065;rs58253666;rs17080065	425	Q68D86	C102B_HUMAN	K	425	ENSP00000316237:N425K;ENSP00000353377:N425K	ENSP00000316237:N425K	N	+	3	2	CCDC102B	64829162	0.005000	0.15991	0.007000	0.13788	0.610000	0.37248	-1.893000	0.01609	-0.763000	0.04658	-0.355000	0.07637	AAC	C|0.972;A|0.028	0.028	strong		0.323	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		A	66678182	C	A	66678182	3	1	22	1	0	0	0	0	1	0	0	0	2737	506	18	4	1297	4	CCDC102B	18	66678182	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	136176	66678182	11399066	9265	14373	296	2								
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66678192	66678192	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattactgaaccttcaacatGcctactataaactaaacaga					rs9963788	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:66678192G>C	ENST00000360242.5	+	7	1402	c.1285G>C	c.(1285-1287)Gcc>Ccc	p.A429P	CCDC102B_ENST00000584156.1_Missense_Mutation_p.A429P|CCDC102B_ENST00000319445.6_Missense_Mutation_p.A429P	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	429			A -> P (in dbSNP:rs9963788).							breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTCAACATGCCTACTATAA	0.323													G|||	354	0.0706869	0.2572	0.0202	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.0				p.A429P		Atlas-SNP	.											.	CCDC102B	92	.	0			c.G1285C						PASS	.	G	PRO/ALA,PRO/ALA	913,3493	333.9+/-303.2	116,681,1406	68	66	67		1285,1285	4.5	0.1	18	dbSNP_119	67	9,8591	4.3+/-15.6	0,9,4291	yes	missense,missense	CCDC102B	NM_001093729.1,NM_024781.2	27,27	116,690,5697	CC,CG,GG		0.1047,20.7217,7.089	probably-damaging,probably-damaging	429/514,429/514	66678192	922,12084	2203	4300	6503	SO:0001583	missense	79839	exon9			CAACATGCCTACT	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1285G>C	18.37:g.66678192G>C	ENSP00000353377:p.Ala429Pro	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	127	0.05815018315018315	122	0.24796747967479674	5	0.013812154696132596	0	0.0	0	0.0	G	12.64	1.997195	0.35226	0.207217	0.001047	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12879	2.64;2.64	5.4	4.53	0.55603	.	0.266261	0.26851	N	0.022162	T	0.00012	0.0000	L	0.46157	1.445	0.09310	P	1.0	D	0.89917	1.0	D	0.66979	0.948	T	0.21759	-1.0236	9	0.59425	D	0.04	-2.2619	9.8768	0.41209	0.0944:0.0:0.9056:0.0	rs9963788;rs52813873;rs59666069;rs9963788	429	Q68D86	C102B_HUMAN	P	429	ENSP00000316237:A429P;ENSP00000353377:A429P	ENSP00000316237:A429P	A	+	1	0	CCDC102B	64829172	0.997000	0.39634	0.131000	0.22000	0.981000	0.71138	3.552000	0.53705	1.276000	0.44395	0.650000	0.86243	GCC	G|0.928;C|0.072	0.072	strong		0.323	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		C	66678192	G	C	66678192	3	2	22	1	0	0	0	0	1	0	0	0	2737	1319	46	4	1307	4	CCDC102B	18	66678192	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10	66678192	11399056	9266	14374	296	2								
DOK6	220164	hgsc.bcm.edu	37	chr18	67365668	67365668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgtgtatcttatgcctacAccaaacctggatatttatgg	7	9	1	0	rs4426448	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:67365668A>G	ENST00000382713.5	+	5	628	c.438A>G	c.(436-438)acA>acG	p.T146T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	146	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTATGCCTACACCAAACCTGG	0.408													G|||	2429	0.485024	0.4213	0.3501	5008	,	,		20482	0.7331		0.4692	False		,,,				2504	0.4274				p.T146T		Atlas-SNP	.											.	DOK6	56	.	0			c.A438G						PASS	.	G		1966,2440	620.0+/-393.5	426,1114,663	124	109	114		438	-5.9	0.7	18	dbSNP_111	114	4006,4594	598.3+/-393.9	916,2174,1210	no	coding-synonymous	DOK6	NM_152721.5		1342,3288,1873	GG,GA,AA		46.5814,44.621,45.9173		146/332	67365668	5972,7034	2203	4300	6503	SO:0001819	synonymous_variant	220164	exon5			GCCTACACCAAAC	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.438A>G	18.37:g.67365668A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_152721	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	CCDS32841.1																																																																																			A|0.522;G|0.478	0.478	strong		0.408	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		G	67365668	A	G	67365668	2	3	22	1	0	0	0	0	0	0	0	1	4701	146	6	2		2	DOK6	18	67365668	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	687476	67365668	10711580	9267	14375										
SOCS6	9306	hgsc.bcm.edu	37	chr18	67992279	67992279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaggccgataaggtccacGtcgctccgcagccatcacta	10	15	1	1	rs2231562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:67992279G>A	ENST00000397942.3	+	2	691	c.375G>A	c.(373-375)acG>acA	p.T125T	SOCS6_ENST00000582322.1_Silent_p.T125T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	125					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TAAGGTCCACGTCGCTCCGCA	0.607													C|||	497	0.0992412	0.0862	0.0922	5008	,	,		17508	0.0833		0.163	False		,,,				2504	0.0726				p.T125T	Melanoma(84;1024 1361 24382 36583 42651)	Atlas-SNP	.											.	SOCS6	54	.	0			c.G375A						PASS	.	C		339,4067		10,319,1874	37	39	38		375	-10.2	0	18	dbSNP_98	38	1321,7273		102,1117,3078	no	coding-synonymous	SOCS6	NM_004232.3		112,1436,4952	AA,AG,GG		15.3712,7.6941,12.7692		125/536	67992279	1660,11340	2203	4297	6500	SO:0001819	synonymous_variant	9306	exon2			GTCCACGTCGCTC	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.375G>A	18.37:g.67992279G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	57	16	0.280702	NM_004232	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																			G|0.878;A|0.122	0.122	strong		0.607	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			A	67992279	G	A	67992279	2	1	22	1	0	0	0	0	0	0	0	1	14918	1132	40	1		1	SOCS6	18	67992279	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	626611	67992279	10084969	9268	14376										
NETO1	81832	hgsc.bcm.edu	37	chr18	70417378	70417378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctatgtcacaggcatctGcagcatcttgcgagtagctg	10	11	4	0	rs17086286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:70417378G>C	ENST00000327305.6	-	9	2117	c.1460C>G	c.(1459-1461)gCa>gGa	p.A487G	NETO1_ENST00000583169.1_Missense_Mutation_p.A487G|NETO1_ENST00000299430.2_Missense_Mutation_p.A486G|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	487			A -> G (in dbSNP:rs17086286).		memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACAGGCATCTGCAGCATCTTG	0.488													G|||	94	0.01877	0.0688	0.0043	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.0				p.A487G		Atlas-SNP	.											.	NETO1	178	.	0			c.C1460G						PASS	.	G	GLY/ALA,GLY/ALA	265,4141	149.9+/-184.0	4,257,1942	165	141	149		1460,1460	4.9	0.8	18	dbSNP_123	149	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	NETO1	NM_001201465.1,NM_138966.3	60,60	4,260,6239	CC,CG,GG		0.0349,6.0145,2.0606	possibly-damaging,possibly-damaging	487/534,487/534	70417378	268,12738	2203	4300	6503	SO:0001583	missense	81832	exon9			GCATCTGCAGCAT	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1460C>G	18.37:g.70417378G>C	ENSP00000313088:p.Ala487Gly	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	212	93	0.438679	NM_001201465	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	34	0.015567765567765568	34	0.06910569105691057	0	0.0	0	0.0	0	0.0	G	17.20	3.327871	0.60743	0.060145	3.49E-4	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.26518	1.74;1.73	5.76	4.86	0.63082	.	0.000000	0.64402	D	0.000014	T	0.02012	0.0063	L	0.42245	1.32	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.41036	0.346;0.188	T	0.00389	-1.1770	10	0.41790	T	0.15	-3.6568	16.2419	0.82418	0.0:0.0:0.8668:0.1332	rs17086286;rs52790393;rs17086286	486;487	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	G	487;486	ENSP00000313088:A487G;ENSP00000299430:A486G	ENSP00000299430:A486G	A	-	2	0	NETO1	68568358	1.000000	0.71417	0.836000	0.33094	0.968000	0.65278	7.044000	0.76578	2.725000	0.93324	0.460000	0.39030	GCA	G|0.978;C|0.022	0.022	strong		0.488	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		C	70417378	G	C	70417378	3	2	22	1	0	0	0	0	1	0	0	0	10339	1319	46	4	149	4	NETO1	18	70417378	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2425099	70417378	7659870	9269	14377										
FAM69C	125704	hgsc.bcm.edu	37	chr18	72103782	72103782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgtggcttggaggagtTggcgaagcttccagaacacg	15	8	1	1	rs2278154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72103782T>C	ENST00000343998.6	-	4	1222	c.1214A>G	c.(1213-1215)cAa>cGa	p.Q405R	FAM69C_ENST00000400291.2_Missense_Mutation_p.Q106R	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	405						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						TTGGAGGAGTTGGCGAAGCTT	0.582													C|||	1678	0.335064	0.3419	0.2997	5008	,	,		13728	0.2589		0.3797	False		,,,				2504	0.3834				p.Q405R		Atlas-SNP	.											.	FAM69C	45	.	0			c.A1214G						PASS	.	C	ARG/GLN	1222,2620		199,824,898	32	35	34		1214	4.1	0	18	dbSNP_100	34	3165,5081		615,1935,1573	yes	missense	FAM69C	NM_001044369.2	43	814,2759,2471	CC,CT,TT		38.3822,31.8064,36.2922	benign	405/420	72103782	4387,7701	1921	4123	6044	SO:0001583	missense	125704	exon4			AGGAGTTGGCGAA	BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.1214A>G	18.37:g.72103782T>C	ENSP00000344331:p.Gln405Arg	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_001044369		Missense_Mutation	SNP	ENST00000343998.6	37	CCDS42445.2	724	0.3315018315018315	174	0.35365853658536583	115	0.31767955801104975	152	0.26573426573426573	283	0.3733509234828496	C	1.680	-0.506740	0.04231	0.318064	0.383822	ENSG00000187773	ENST00000400291;ENST00000343998	.	.	.	4.95	4.08	0.47627	.	0.507764	0.20656	N	0.088114	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42344	-0.9457	8	0.12766	T	0.61	-9.8332	8.5284	0.33319	0.0:0.6981:0.0:0.3019	rs2278154;rs56640189;rs2278154	405	Q0P6D2	FA69C_HUMAN	R	106;405	.	ENSP00000344331:Q405R	Q	-	2	0	FAM69C	70254762	0.003000	0.15002	0.021000	0.16686	0.285000	0.27093	1.315000	0.33608	0.639000	0.30564	-0.220000	0.12472	CAA	T|0.666;C|0.334	0.334	strong		0.582	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		C	72103782	T	C	72103782	3	2	22	1	0	0	0	0	1	0	0	0	5604	1812	63	2	49	2	FAM69C	18	72103782	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1686404	72103782	5973466	9270	14378										
CNDP2	55748	hgsc.bcm.edu	37	chr18	72168608	72168608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagtgtgtctgcgtggccGgagaagagaggcgaaatcag	17	7	2	3	rs2303463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72168608G>A	ENST00000324262.4	+	3	421	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CNDP2_ENST00000579847.1_Silent_p.P35P|CNDP2_ENST00000324301.8_Silent_p.P35P	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	35					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.P35P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGCGTGGCCGGAGAAGAGAG	0.507													G|||	1233	0.246206	0.2231	0.3127	5008	,	,		19326	0.2956		0.164	False		,,,				2504	0.2638				p.P35P		Atlas-SNP	.											CNDP2,caecum,carcinoma,0,2	CNDP2	55	2	1	Substitution - coding silent(1)	stomach(1)	c.G105A						PASS	.	G	,	937,3469	358.4+/-314.3	119,699,1385	173	152	159		105,105	-11.6	0.3	18	dbSNP_100	159	1623,6977	301.7+/-305.6	134,1355,2811	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	253,2054,4196	AA,AG,GG		18.8721,21.2665,19.6832	,	35/392,35/476	72168608	2560,10446	2203	4300	6503	SO:0001819	synonymous_variant	55748	exon2			GTGGCCGGAGAAG	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.105G>A	18.37:g.72168608G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	207	91	0.439614	NM_001168499	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	CCDS12006.1																																																																																			G|0.791;A|0.209	0.209	strong		0.507	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		A	72168608	G	A	72168608	2	1	22	1	0	0	0	0	0	0	0	1	3594	1103	39	1		1	CNDP2	18	72168608	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	64826	72168608	5908640	9271	14379										
CNDP1	84735	hgsc.bcm.edu	37	chr18	72226578	72226578	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgctgaaggagtgggtggcCatcgagagcgactctgtcca	15	10	1	2	rs9807352	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72226578C>A	ENST00000358821.3	+	3	402	c.174C>A	c.(172-174)gcC>gcA	p.A58A	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Silent_p.A15A	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	58						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGTGGGTGGCCATCGAGAGCG	0.637													C|||	344	0.0686901	0.1649	0.0216	5008	,	,		16230	0.0635		0.0278	False		,,,				2504	0.0194				p.A58A	Melanoma(32;1029 1042 25286 38395 44237)	Atlas-SNP	.											.	CNDP1	98	.	0			c.C174A						PASS	.	C		608,3798	266.8+/-267.5	43,522,1638	97	82	87		174	-2.8	0	18	dbSNP_119	87	190,8410	83.1+/-145.7	2,186,4112	no	coding-synonymous	CNDP1	NM_032649.5		45,708,5750	AA,AC,CC		2.2093,13.7994,6.1356		58/508	72226578	798,12208	2203	4300	6503	SO:0001819	synonymous_variant	84735	exon3			GGTGGCCATCGAG		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.174C>A	18.37:g.72226578C>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	66	41	0.621212	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	CCDS12007.1																																																																																			C|0.934;A|0.066	0.066	strong		0.637	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72226578	C	A	72226578	2	1	22	1	0	0	0	0	0	0	0	1	3593	581	21	4		4	CNDP1	18	72226578	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57970	72226578	5850670	9272	14380										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72344202	72344202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcagcacacggtaacagTgtaacctcgaggccaagacc	11	13	0	1	rs374837339		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72344202T>C	ENST00000299687.5	+	1	1227	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	ZNF407_ENST00000309902.6_Silent_p.S409S|ZNF407_ENST00000577538.1_Silent_p.S409S|ZNF407_ENST00000582337.1_Silent_p.S409S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACGGTAACAGTGTAACCTCGA	0.453																																					p.S409S		Atlas-SNP	.											.	ZNF407	231	.	0			c.T1227C						PASS	.	T	,,	1,3749		0,1,1874	57	59	58		1227,1227,1227	-3.8	0	18		58	0,8230		0,0,4115	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	0,1,5989	CC,CT,TT		0.0,0.0267,0.0083	,,	409/1816,409/1661,409/2249	72344202	1,11979	1875	4115	5990	SO:0001819	synonymous_variant	55628	exon1			TAACAGTGTAACC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1227T>C	18.37:g.72344202T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	119	66	0.554622	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			.	.	weak		0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72344202	T	C	72344202	2	2	22	1	0	0	0	0	0	0	0	1	17884	1693	59	2		2	ZNF407	18	72344202	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	117624	72344202	5733046	9273	14381										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72344238	72344238	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacctgagcgaaatattctCgtgttgggtaatagctttcg	11	7	1	2	rs17817969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72344238C>T	ENST00000299687.5	+	1	1263	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	ZNF407_ENST00000309902.6_Silent_p.L421L|ZNF407_ENST00000577538.1_Silent_p.L421L|ZNF407_ENST00000582337.1_Silent_p.L421L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAATATTCTCGTGTTGGGTA	0.438													C|||	340	0.0678914	0.112	0.0663	5008	,	,		21706	0.002		0.1064	False		,,,				2504	0.0378				p.L421L		Atlas-SNP	.											.	ZNF407	231	.	0			c.C1263T						PASS	.	C	,,	387,3373		18,351,1511	63	65	64		1263,1263,1263	-7.7	0	18	dbSNP_123	64	1145,7097		88,969,3064	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	106,1320,4575	TT,TC,CC		13.8923,10.2926,12.7645	,,	421/1816,421/1661,421/2249	72344238	1532,10470	1880	4121	6001	SO:0001819	synonymous_variant	55628	exon1			TATTCTCGTGTTG	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1263C>T	18.37:g.72344238C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	113	59	0.522124	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			C|0.907;T|0.093	0.093	strong		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72344238	C	T	72344238	2	4	22	1	0	0	0	0	0	0	0	1	17884	871	31	1		1	ZNF407	18	72344238	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	72344238	5733010	9274	14382										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72344509	72344509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccgtcctccggactccGggctgcattccctgacagtg	12	16	0	1	rs7227263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72344509G>A	ENST00000299687.5	+	1	1534	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	ZNF407_ENST00000582337.1_Missense_Mutation_p.G512R|ZNF407_ENST00000309902.6_Missense_Mutation_p.G512R|ZNF407_ENST00000577538.1_Missense_Mutation_p.G512R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	512			G -> R (in dbSNP:rs7227263).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCCGGACTCCGGGCTGCATTC	0.562													G|||	339	0.0676917	0.112	0.0663	5008	,	,		18648	0.001		0.1064	False		,,,				2504	0.0378				p.G512R		Atlas-SNP	.											.	ZNF407	231	.	0			c.G1534A						PASS	.	G	ARG/GLY,ARG/GLY,ARG/GLY	404,3640		17,370,1635	85	93	90		1534,1534,1534	-9.6	0	18	dbSNP_116	90	1156,7212		87,982,3115	yes	missense,missense,missense	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	125,125,125	104,1352,4750	AA,AG,GG		13.8145,9.9901,12.5685	benign,benign,benign	512/1816,512/1661,512/2249	72344509	1560,10852	2022	4184	6206	SO:0001583	missense	55628	exon1			GACTCCGGGCTGC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1534G>A	18.37:g.72344509G>A	ENSP00000299687:p.Gly512Arg	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	97	56	0.57732	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	173	0.07921245421245421	59	0.11991869918699187	26	0.0718232044198895	0	0.0	88	0.11609498680738786	G	8.956	0.969380	0.18659	0.099901	0.138145	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08984	3.03;3.44	5.78	-9.59	0.00556	.	0.000000	0.18108	U	0.151444	T	0.00039	0.0001	N	0.04508	-0.205	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.40059	-0.9583	9	0.27785	T	0.31	.	5.3187	0.15870	0.1757:0.2898:0.4351:0.0994	rs7227263;rs57563446;rs7227263	512;512;512	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	R	512	ENSP00000299687:G512R;ENSP00000310359:G512R	ENSP00000299687:G512R	G	+	1	0	ZNF407	70473497	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.751000	0.04803	-0.515000	0.06479	-0.806000	0.03193	GGG	G|0.910;A|0.090	0.090	strong		0.562	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72344509	G	A	72344509	3	1	22	1	0	0	0	0	1	0	0	0	17884	1116	39	1	1536	1	ZNF407	18	72344509	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	271	72344509	5732739	9275	14383										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72344553	72344553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcttctggctctcagacGttgtgtgcttgtacagactg	11	11	2	2	rs7227391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72344553G>A	ENST00000299687.5	+	1	1578	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	ZNF407_ENST00000582337.1_Silent_p.T526T|ZNF407_ENST00000309902.6_Silent_p.T526T|ZNF407_ENST00000577538.1_Silent_p.T526T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTCTCAGACGTTGTGTGCTT	0.542													G|||	341	0.0680911	0.112	0.0663	5008	,	,		19719	0.003		0.1064	False		,,,				2504	0.0378				p.T526T		Atlas-SNP	.											.	ZNF407	231	.	0			c.G1578A						PASS	.	G	,,	401,3607		17,367,1620	138	147	144		1578,1578,1578	3	0	18	dbSNP_116	144	1159,7179		87,985,3097	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	104,1352,4717	AA,AG,GG		13.9002,10.005,12.6357	,,	526/1816,526/1661,526/2249	72344553	1560,10786	2004	4169	6173	SO:0001819	synonymous_variant	55628	exon1			TCAGACGTTGTGT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1578G>A	18.37:g.72344553G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	130	67	0.515385	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			G|0.907;A|0.093	0.093	strong		0.542	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72344553	G	A	72344553	2	1	22	1	0	0	0	0	0	0	0	1	17884	1132	40	1		1	ZNF407	18	72344553	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44	72344553	5732695	9276	14384										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72347482	72347482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgaacagaatttatttTtacatattaaaggacagcat	5	5	1	2	rs12327359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:72347482T>C	ENST00000299687.5	+	1	4507	c.4507T>C	c.(4507-4509)Tta>Cta	p.L1503L	ZNF407_ENST00000309902.6_Silent_p.L1503L|ZNF407_ENST00000582337.1_Silent_p.L1503L|ZNF407_ENST00000577538.1_Silent_p.L1503L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1503L(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATTTATTTTTACATATTAA	0.473													C|||	2123	0.423922	0.7201	0.3271	5008	,	,		19354	0.1845		0.4175	False		,,,				2504	0.3456				p.L1503L		Atlas-SNP	.											ZNF407,NS,carcinoma,0,1	ZNF407	231	1	1	Substitution - coding silent(1)	prostate(1)	c.T4507C						PASS	.	C	,,	2571,1165		885,801,182	41	43	43		4507,4507,4507	4.8	0.9	18	dbSNP_120	43	3538,4686		754,2030,1328	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	1639,2831,1510	CC,CT,TT		43.0204,31.1831,48.9214	,,	1503/1816,1503/1661,1503/2249	72347482	6109,5851	1868	4112	5980	SO:0001819	synonymous_variant	55628	exon1			TTATTTTTACATA	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4507T>C	18.37:g.72347482T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	134	67	0.5	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			T|0.567;C|0.433	0.433	strong		0.473	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72347482	T	C	72347482	2	2	22	1	0	0	0	0	0	0	0	1	17884	1838	64	2		2	ZNF407	18	72347482	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2929	72347482	5729766	9277	14385										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	73000131	73000131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatgtcggacttgggcccGcaggagagggtgcacatctc	14	11	2	1	rs35073557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:73000131G>A	ENST00000580243.1	+	2	3117	c.2769G>A	c.(2767-2769)ccG>ccA	p.P923P	TSHZ1_ENST00000322038.5_Silent_p.P878P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	923					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTTGGGCCCGCAGGAGAGGG	0.592													G|||	69	0.013778	0.0477	0.0086	5008	,	,		19023	0.0		0.0	False		,,,				2504	0.0				p.P878P		Atlas-SNP	.											.	TSHZ1	104	.	0			c.G2634A						PASS	.	G		230,4176	136.5+/-172.5	6,218,1979	56	53	54		2634	-9.1	1	18	dbSNP_126	54	0,8600		0,0,4300	no	coding-synonymous	TSHZ1	NM_005786.4		6,218,6279	AA,AG,GG		0.0,5.2202,1.7684		878/1033	73000131	230,12776	2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			GGGCCCGCAGGAG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2769G>A	18.37:g.73000131G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	68	37	0.544118	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				G|0.981;A|0.019	0.019	strong		0.592	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	73000131	G	A	73000131	2	1	22	1	0	0	0	0	0	0	0	1	16620	1074	38	1		1	TSHZ1	18	73000131	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	652649	73000131	5077117	9278	14386										
ZNF516	9658	hgsc.bcm.edu	37	chr18	74090931	74090931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcatgcccctcggccacCggctcctgtttgatggagtg	11	14	1	1	rs690353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74090931C>T	ENST00000443185.2	-	5	3455	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1046					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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCGGCCACCGGCTCCTGTT	0.657													C|||	541	0.108027	0.3548	0.0476	5008	,	,		14366	0.0		0.0219	False		,,,				2504	0.0174				p.P1046P		Atlas-SNP	.											.	ZNF516	102	.	0			c.G3138A						PASS	.	C		1036,2930		145,746,1092	43	51	48		3139	-4.1	0.9	18	dbSNP_83	48	140,8156		4,132,4012	yes	coding-synonymous	ZNF516	NM_014643.3		149,878,5104	TT,TC,CC		1.6876,26.122,9.5906		1046/1164	74090931	1176,11086	1983	4148	6131	SO:0001819	synonymous_variant	9658	exon5			GGCCACCGGCTCC	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3138G>A	18.37:g.74090931C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	65	33	0.507692	NM_014643		Silent	SNP	ENST00000443185.2	37																																																																																				C|0.903;T|0.097	0.097	strong		0.657	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		T	74090931	C	T	74090931	2	4	22	1	0	0	0	0	0	0	0	1	17957	652	23	1		1	ZNF516	18	74090931	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1090800	74090931	3986317	9279	14387										
ZNF516	9658	hgsc.bcm.edu	37	chr18	74091235	74091235	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccacaggcttgctattGgccgagggctgcgcgccagc	13	14	1	0	rs621265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74091235G>C	ENST00000443185.2	-	4	3152	c.2835C>G	c.(2833-2835)gcC>gcG	p.A945A	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTTGCTATTGGCCGAGGGCT	0.672													C|||	526	0.105032	0.3132	0.0418	5008	,	,		14120	0.0149		0.0378	False		,,,				2504	0.0307				p.A945A		Atlas-SNP	.											.	ZNF516	102	.	0			c.C2835G						PASS	.	C		796,2754		68,660,1047	21	25	24		2835	0.1	0	18	dbSNP_83	24	172,7672		1,170,3751	no	coding-synonymous	ZNF516	NM_014643.3		69,830,4798	CC,CG,GG		2.1928,22.4225,8.4957		945/1164	74091235	968,10426	1775	3922	5697	SO:0001819	synonymous_variant	9658	exon4			GCTATTGGCCGAG	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2835C>G	18.37:g.74091235G>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_014643		Silent	SNP	ENST00000443185.2	37																																																																																				G|0.898;C|0.102	0.102	strong		0.672	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		C	74091235	G	C	74091235	2	2	22	1	0	0	0	0	0	0	0	1	17957	1335	47	4		4	ZNF516	18	74091235	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	304	74091235	3986013	9280	14388										
ZNF236	7776	hgsc.bcm.edu	37	chr18	74640002	74640002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggtcctggcacaggccGctgggcccactgccacgtct	13	17	1	0	rs76679748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74640002G>A	ENST00000253159.8	+	25	4726	c.4528G>A	c.(4528-4530)Gct>Act	p.A1510T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1512T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1510					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCACAGGCCGCTGGGCCCAC	0.542													G|||	28	0.00559105	0.0204	0.0014	5008	,	,		13599	0.0		0.0	False		,,,				2504	0.0				p.A1510T		Atlas-SNP	.											.	ZNF236	325	.	0			c.G4528A						PASS	.	G	THR/ALA	32,3768		0,32,1868	45	49	48		4528	2.3	0	18	dbSNP_131	48	0,8234		0,0,4117	yes	missense	ZNF236	NM_007345.3	58	0,32,5985	AA,AG,GG		0.0,0.8421,0.2659	benign	1510/1846	74640002	32,12002	1900	4117	6017	SO:0001583	missense	7776	exon25			CAGGCCGCTGGGC	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4528G>A	18.37:g.74640002G>A	ENSP00000253159:p.Ala1510Thr	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	200	99	0.495	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	0.098	-1.156936	0.01686	0.008421	0.0	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10192	2.9;3.06	5.07	2.3	0.28687	.	0.166139	0.45126	D	0.000391	T	0.02688	0.0081	N	0.04880	-0.145	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.39461	-0.9613	10	0.25751	T	0.34	.	4.3857	0.11316	0.298:0.0:0.4852:0.2168	.	1510	Q9UL36	ZN236_HUMAN	T	1510	ENSP00000253159:A1510T;ENSP00000444524:A1510T	ENSP00000253159:A1510T	A	+	1	0	ZNF236	72768990	0.088000	0.21588	0.015000	0.15790	0.230000	0.25150	0.368000	0.20399	0.660000	0.30964	-1.276000	0.01395	GCT	G|0.996;A|0.004	0.004	strong		0.542	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74640002	G	A	74640002	3	1	22	1	0	0	0	0	1	0	0	0	17786	1087	38	1	4626	1	ZNF236	18	74640002	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	548767	74640002	3437246	9281	14389										
MBP	4155	hgsc.bcm.edu	37	chr18	74701936	74701936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgaagaagtggactacGgggttttcatcttgggtccg	13	7	3	2	rs76912958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74701936G>A	ENST00000397869.3	-	2	304	c.258C>T	c.(256-258)ccC>ccT	p.P86P	MBP_ENST00000382582.3_Silent_p.P112P|MBP_ENST00000359645.3_Silent_p.P112P|MBP_ENST00000397875.3_Silent_p.P86P|MBP_ENST00000354542.4_Intron|MBP_ENST00000526111.1_Silent_p.P64P|MBP_ENST00000578193.1_Silent_p.P86P|MBP_ENST00000528160.1_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000355994.2_Silent_p.P219P|MBP_ENST00000580402.1_Silent_p.P219P|MBP_ENST00000397866.4_Silent_p.P86P|MBP_ENST00000397865.5_Silent_p.P86P|MBP_ENST00000579129.1_Silent_p.P219P			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	AGTGGACTACGGGGTTTTCAT	0.572													G|||	129	0.0257588	0.0923	0.0101	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.0				p.P219P	NSCLC(17;72 1131 19392)	Atlas-SNP	.											.	MBP	45	.	0			c.C657T						PASS	.	G	,,,,	327,4079	172.3+/-202.3	8,311,1884	179	160	167		336,258,258,657,336	-6.3	1	18	dbSNP_131	167	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBP	NM_001025081.1,NM_001025090.1,NM_001025092.1,NM_001025101.1,NM_002385.2	,,,,	8,315,6180	AA,AG,GG		0.0465,7.4217,2.545	,,,,	112/198,86/172,86/161,219/305,112/187	74701936	331,12675	2203	4300	6503	SO:0001819	synonymous_variant	4155	exon5			GACTACGGGGTTT		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.258C>T	18.37:g.74701936G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	148	72	0.486486	NM_001025101	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	37																																																																																				G|0.977;A|0.023	0.023	strong		0.572	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		A	74701936	G	A	74701936	2	1	22	1	0	0	0	0	0	0	0	1	9359	1103	39	1		1	MBP	18	74701936	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61934	74701936	3375312	9282	14390										
MBP	4155	hgsc.bcm.edu	37	chr18	74701984	74701984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttctggggcagggagccGtagtgagcagttcttgccgg	17	9	2	1	rs470797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74701984G>A	ENST00000397869.3	-	2	256	c.210C>T	c.(208-210)taC>taT	p.Y70Y	MBP_ENST00000382582.3_Silent_p.Y96Y|MBP_ENST00000359645.3_Silent_p.Y96Y|MBP_ENST00000397875.3_Silent_p.Y70Y|MBP_ENST00000354542.4_Intron|MBP_ENST00000526111.1_Silent_p.Y48Y|MBP_ENST00000578193.1_Silent_p.Y70Y|MBP_ENST00000528160.1_Intron|MBP_ENST00000527041.1_Silent_p.Y70Y|MBP_ENST00000355994.2_Silent_p.Y203Y|MBP_ENST00000580402.1_Silent_p.Y203Y|MBP_ENST00000397866.4_Silent_p.Y70Y|MBP_ENST00000397865.5_Silent_p.Y70Y|MBP_ENST00000579129.1_Silent_p.Y203Y			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.Y203Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GCAGGGAGCCGTAGTGAGCAG	0.567													G|||	1166	0.232827	0.2368	0.1916	5008	,	,		17334	0.3204		0.1372	False		,,,				2504	0.2648				p.Y203Y	NSCLC(17;72 1131 19392)	Atlas-SNP	.											MBP,colon,carcinoma,0,2	MBP	45	2	1	Substitution - coding silent(1)	stomach(1)	c.C609T						PASS	.	G	,,,,	909,3497	349.3+/-310.3	98,713,1392	135	122	126		288,210,210,609,288	-5.9	1	18	dbSNP_83	126	1322,7278	259.9+/-283.0	102,1118,3080	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBP	NM_001025081.1,NM_001025090.1,NM_001025092.1,NM_001025101.1,NM_002385.2	,,,,	200,1831,4472	AA,AG,GG		15.3721,20.631,17.1536	,,,,	96/198,70/172,70/161,203/305,96/187	74701984	2231,10775	2203	4300	6503	SO:0001819	synonymous_variant	4155	exon5			GGAGCCGTAGTGA		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.210C>T	18.37:g.74701984G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	136	66	0.485294	NM_001025101	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	37																																																																																				A|0.185;C|0.000;G|0.815;T|0.000	0.185	strong		0.567	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		A	74701984	G	A	74701984	2	1	22	1	0	0	0	0	0	0	0	1	9359	1140	40	1		1	MBP	18	74701984	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48	74701984	3375264	9283	14391										
GALR1	2587	hgsc.bcm.edu	37	chr18	74962810	74962810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcgctgcccacctgggtGctgggcgccttcatctgcaa	12	15	2	0	rs5375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:74962810G>T	ENST00000299727.3	+	1	306	c.306G>T	c.(304-306)gtG>gtT	p.V102V		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	102					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCACCTGGGTGCTGGGCGCCT	0.612													G|||	321	0.0640974	0.146	0.0231	5008	,	,		16293	0.0466		0.0288	False		,,,				2504	0.0368				p.V102V		Atlas-SNP	.											GALR1,NS,carcinoma,0,1	GALR1	53	1	0			c.G306T						PASS	.	G		517,3889	236.5+/-248.6	27,463,1713	129	114	119		306	3.4	1	18	dbSNP_52	119	264,8336	101.9+/-163.1	3,258,4039	no	coding-synonymous	GALR1	NM_001480.3		30,721,5752	TT,TG,GG		3.0698,11.734,6.0049		102/350	74962810	781,12225	2203	4300	6503	SO:0001819	synonymous_variant	2587	exon1			CTGGGTGCTGGGC	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.306G>T	18.37:g.74962810G>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	166	93	0.560241	NM_001480	Q4VBL7	Silent	SNP	ENST00000299727.3	37	CCDS12012.1																																																																																			G|0.936;T|0.064	0.064	strong		0.612	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			T	74962810	G	T	74962810	2	4	22	1	0	0	0	0	0	0	0	1	6227	1306	46	4		4	GALR1	18	74962810	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	260826	74962810	3114438	9284	14392										
SALL3	27164	hgsc.bcm.edu	37	chr18	76753063	76753063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggtgcggcgcccggcCtgccaagtccgcttctacct	13	16	1	0	rs2472643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:76753063C>T	ENST00000537592.2	+	2	1072	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	SALL3_ENST00000536229.3_Silent_p.L225L|SALL3_ENST00000575389.2_Silent_p.L358L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	358					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L358L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCGCCCGGCCTGCCAAGTCC	0.741													C|||	540	0.107827	0.1823	0.0533	5008	,	,		8166	0.0724		0.0666	False		,,,				2504	0.1247				p.L358L		Atlas-SNP	.											SALL3,NS,carcinoma,0,1	SALL3	162	1	2	Substitution - coding silent(2)	prostate(2)	c.C1072T						PASS	.	C		553,3761		41,471,1645	11	12	11		1072	4.4	1	18	dbSNP_100	11	622,7876		27,568,3654	no	coding-synonymous	SALL3	NM_171999.2		68,1039,5299	TT,TC,CC		7.3194,12.8187,9.1711		358/1301	76753063	1175,11637	2157	4249	6406	SO:0001819	synonymous_variant	27164	exon2			CCCGGCCTGCCAA	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1072C>T	18.37:g.76753063C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	23	15	0.652174	NM_171999	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																			C|0.915;T|0.085	0.085	strong		0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76753063	C	T	76753063	2	4	22	1	0	0	0	0	0	0	0	1	13812	680	24	2		2	SALL3	18	76753063	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1790253	76753063	1324185	9285	14393										
SALL3	27164	hgsc.bcm.edu	37	chr18	76753588	76753588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggctgcaactgccgcccActgtccctggcgcgcacggc	14	17	0	0	rs7240860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:76753588A>G	ENST00000537592.2	+	2	1597	c.1597A>G	c.(1597-1599)Act>Gct	p.T533A	SALL3_ENST00000575389.2_Missense_Mutation_p.T533A|SALL3_ENST00000536229.3_Missense_Mutation_p.T400A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	533			T -> A (in dbSNP:rs7240860).		forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACTGCCGCCCACTGTCCCTGG	0.741													A|||	3600	0.71885	0.3374	0.8242	5008	,	,		11859	0.9127		0.8459	False		,,,				2504	0.8292				p.T533A		Atlas-SNP	.											SALL3,NS,carcinoma,0,1	SALL3	162	1	0			c.A1597G						scavenged	.	A	ALA/THR	1821,2527		397,1027,750	12	11	11		1597	2.7	0.2	18	dbSNP_116	11	7027,1441		2953,1121,160	no	missense	SALL3	NM_171999.2	58	3350,2148,910	GG,GA,AA		17.017,41.8813,30.9613	possibly-damaging	533/1301	76753588	8848,3968	2174	4234	6408	SO:0001583	missense	27164	exon2			CCGCCCACTGTCC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1597A>G	18.37:g.76753588A>G	ENSP00000441823:p.Thr533Ala	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	11	4	0.363636	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	1629	0.7458791208791209	158	0.32113821138211385	307	0.8480662983425414	532	0.9300699300699301	632	0.8337730870712401	A	3.488	-0.104379	0.06967	0.418813	0.82983	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10288	2.89	5.2	2.73	0.32206	.	0.000000	0.64402	D	0.000017	T	0.00012	0.0000	M	0.70842	2.15	0.09310	P	0.999999037973	P;P	0.52577	0.712;0.954	B;B	0.43950	0.396;0.437	T	0.11155	-1.0599	9	0.42905	T	0.14	-37.6074	8.1421	0.31089	0.7253:0.1343:0.0:0.1405	rs7240860	265;533	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	533;533;265	ENSP00000441823:T533A	ENSP00000299466:T533A	T	+	1	0	SALL3	74854576	1.000000	0.71417	0.204000	0.23530	0.006000	0.05464	4.407000	0.59754	0.267000	0.21916	-0.460000	0.05396	ACT	A|0.251;G|0.749	0.749	strong		0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		G	76753588	A	G	76753588	3	3	22	1	0	0	0	0	1	0	0	0	13812	159	6	2	1603	2	SALL3	18	76753588	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	525	76753588	1323660	9286	14394										
SALL3	27164	hgsc.bcm.edu	37	chr18	76754367	76754367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgacaagaacgcggagacCctgagcagctacgatgacga	13	11	0	4	rs2927258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:76754367C>T	ENST00000537592.2	+	2	2376	c.2376C>T	c.(2374-2376)acC>acT	p.T792T	SALL3_ENST00000536229.3_Silent_p.T659T|SALL3_ENST00000575389.2_Silent_p.T792T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	792					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCGGAGACCCTGAGCAGCT	0.647													C|||	363	0.072484	0.1513	0.0389	5008	,	,		15540	0.0605		0.0398	False		,,,				2504	0.0358				p.T792T		Atlas-SNP	.											SALL3,NS,carcinoma,0,1	SALL3	162	1	0			c.C2376T						PASS	.	C		504,3898	228.5+/-243.3	34,436,1731	64	64	64		2376	-1.1	0	18	dbSNP_101	64	491,8109	142.2+/-198.4	19,453,3828	no	coding-synonymous	SALL3	NM_171999.2		53,889,5559	TT,TC,CC		5.7093,11.4493,7.6527		792/1301	76754367	995,12007	2201	4300	6501	SO:0001819	synonymous_variant	27164	exon2			GGAGACCCTGAGC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2376C>T	18.37:g.76754367C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	94	55	0.585106	NM_171999	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																			C|0.930;T|0.070	0.070	strong		0.647	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76754367	C	T	76754367	2	4	22	1	0	0	0	0	0	0	0	1	13812	610	22	2		2	SALL3	18	76754367	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	779	76754367	1322881	9287	14395										
ATP9B	374868	hgsc.bcm.edu	37	chr18	76870397	76870397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgtcgaagaaagaaagaGctgaaagctcgcacagtatg	11	6	0	4	rs492657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:76870397G>A	ENST00000426216.2	+	3	353	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ATP9B_ENST00000307671.7_Silent_p.E112E|ATP9B_ENST00000586722.1_Silent_p.E112E|ATP9B_ENST00000458297.2_Silent_p.E60E|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	112					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAAAGAAAGAGCTGAAAGCTC	0.318													A|||	578	0.115415	0.2882	0.0749	5008	,	,		18999	0.0228		0.1034	False		,,,				2504	0.0184				p.E112E		Atlas-SNP	.											.	ATP9B	96	.	0			c.G336A						PASS	.	A		1196,3210	705.1+/-407.2	143,910,1150	70	76	74		336	-1.9	0.9	18	dbSNP_83	74	809,7791	781.8+/-407.6	43,723,3534	no	coding-synonymous	ATP9B	NM_198531.3		186,1633,4684	AA,AG,GG		9.407,27.1448,15.416		112/1148	76870397	2005,11001	2203	4300	6503	SO:0001819	synonymous_variant	374868	exon3			GAAAGAGCTGAAA	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.336G>A	18.37:g.76870397G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_198531	O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	CCDS12014.1																																																																																			G|0.862;A|0.138	0.138	strong		0.318	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	76870397	G	A	76870397	2	1	22	1	0	0	0	0	0	0	0	1	1199	962	34	2		2	ATP9B	18	76870397	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	116030	76870397	1206851	9288	14396										
ATP9B	374868	hgsc.bcm.edu	37	chr18	77097360	77097360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgagagcctggagagggagAtggaactgctgtgcctcacc	15	10	1	3	rs585033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:77097360A>T	ENST00000426216.2	+	19	2211	c.2194A>T	c.(2194-2196)Atg>Ttg	p.M732L	RP11-800A18.4_ENST00000592906.1_RNA|ATP9B_ENST00000307671.7_Missense_Mutation_p.M732L|ATP9B_ENST00000543761.1_Missense_Mutation_p.M53L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	732			M -> L (in dbSNP:rs585033).		establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGAGAGGGAGATGGAACTGCT	0.652													A|||	162	0.0323482	0.003	0.0562	5008	,	,		20784	0.001		0.1024	False		,,,				2504	0.0153				p.M732L		Atlas-SNP	.											.	ATP9B	96	.	0			c.A2194T						PASS	.	A	LEU/MET	99,4307	77.8+/-116.1	2,95,2106	120	100	107		2194	4.2	1	18	dbSNP_83	107	777,7823	184.2+/-232.2	44,689,3567	yes	missense	ATP9B	NM_198531.3	15	46,784,5673	TT,TA,AA		9.0349,2.2469,6.7354	benign	732/1148	77097360	876,12130	2203	4300	6503	SO:0001583	missense	374868	exon19			AGGGAGATGGAAC	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2194A>T	18.37:g.77097360A>T	ENSP00000398076:p.Met732Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_198531	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	97	0.044413919413919416	1	0.0020325203252032522	21	0.058011049723756904	1	0.0017482517482517483	74	0.09762532981530343	A	8.343	0.829243	0.16749	0.022469	0.090349	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;D	0.98835	0.15;0.15;-5.17	5.36	4.18	0.49190	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.039059	0.85682	N	0.000000	T	0.37404	0.1002	N	0.03281	-0.365	0.54753	D	0.999984	B;B;B	0.16396	0.002;0.017;0.014	B;B;B	0.23716	0.012;0.048;0.028	T	0.77667	-0.2502	10	0.02654	T	1	.	11.587	0.50925	0.8662:0.0:0.0:0.1338	rs585033;rs585033	53;732;732	F5H8J1;O43861;O43861-2	.;ATP9B_HUMAN;.	L	732;732;53	ENSP00000398076:M732L;ENSP00000304500:M732L;ENSP00000442015:M53L	ENSP00000304500:M732L	M	+	1	0	ATP9B	75198348	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.809000	0.75211	0.850000	0.35239	0.533000	0.62120	ATG	A|0.943;T|0.057	0.057	strong		0.652	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		T	77097360	A	T	77097360	3	4	22	1	0	0	0	0	1	0	0	0	1199	333	12	5	2268	5	ATP9B	18	77097360	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	226963	77097360	979888	9289	14397										
NFATC1	4772	hgsc.bcm.edu	37	chr18	77170477	77170477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcactccaccctgccggccCcgtgccacaaccttcagacc	7	22	1	1	rs1051978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:77170477C>A	ENST00000427363.2	+	2	202	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	NFATC1_ENST00000587635.1_Missense_Mutation_p.P68T|NFATC1_ENST00000586434.1_Missense_Mutation_p.P55T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P68T|NFATC1_ENST00000592223.1_Missense_Mutation_p.P55T|NFATC1_ENST00000329101.4_Missense_Mutation_p.P55T|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.P55T|NFATC1_ENST00000591814.1_Missense_Mutation_p.P68T|NFATC1_ENST00000542384.1_Missense_Mutation_p.P68T			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	68			P -> T (in dbSNP:rs1051978).		calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTGCCGGCCCCGTGCCACAA	0.652													C|||	234	0.0467252	0.0068	0.1527	5008	,	,		14100	0.0		0.0934	False		,,,				2504	0.0256				p.P68T	GBM(151;1210 2593 28719 45011)	Atlas-SNP	.											.	NFATC1	105	.	0			c.C202A						PASS	.	C	THR/PRO,THR/PRO,,THR/PRO,THR/PRO	100,4306	77.8+/-116.1	1,98,2104	59	68	65		202,163,,163,202	3.5	0	18	dbSNP_86	65	935,7663	205.9+/-248.2	54,827,3418	yes	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	38,38,,38,38	55,925,5522	AA,AC,CC		10.8746,2.2696,7.9591	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging	68/826,55/931,,55/813,68/717	77170477	1035,11969	2203	4299	6502	SO:0001583	missense	4772	exon2			CCGGCCCCGTGCC	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.202C>A	18.37:g.77170477C>A	ENSP00000389377:p.Pro68Thr	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	102	55	0.539216	NM_172390	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		128	0.05860805860805861	4	0.008130081300813009	50	0.13812154696132597	0	0.0	74	0.09762532981530343	C	10.32	1.318656	0.23994	0.022696	0.108746	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.39	3.49	0.39957	.	0.118056	0.64402	D	0.000016	T	0.00328	0.0010	M	0.70275	2.135	0.09310	P	1.0	B;B;B;B;B;B;B	0.34181	0.306;0.306;0.306;0.306;0.306;0.44;0.306	B;B;B;B;B;B;B	0.30646	0.08;0.118;0.05;0.08;0.08;0.08;0.05	T	0.10543	-1.0625	9	0.66056	D	0.02	-10.9661	8.6371	0.33955	0.0:0.7533:0.1611:0.0856	rs1051978;rs2230114;rs16958940;rs1051978	55;55;68;68;68;55;68	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	T	68;68;68;55;55;32	ENSP00000316553:P68T;ENSP00000253506:P68T;ENSP00000442435:P68T;ENSP00000327850:P55T	ENSP00000253506:P68T	P	+	1	0	NFATC1	75271465	0.236000	0.23804	0.006000	0.13384	0.137000	0.21094	2.714000	0.47202	1.013000	0.39391	0.561000	0.74099	CCG	C|0.931;A|0.069	0.069	strong		0.652	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77170477	C	A	77170477	3	1	22	1	0	0	0	0	1	0	0	0	10361	623	22	4	300	4	NFATC1	18	77170477	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73117	77170477	906771	9290	14398										
NFATC1	4772	hgsc.bcm.edu	37	chr18	77211764	77211764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaagaagatggtcctgtcTggccacaacttcctgcagga	13	10	1	2	rs15350	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:77211764T>C	ENST00000427363.2	+	6	1851	c.1851T>C	c.(1849-1851)tcT>tcC	p.S617S	NFATC1_ENST00000587635.1_Missense_Mutation_p.L589P|NFATC1_ENST00000586434.1_Silent_p.S604S|NFATC1_ENST00000397790.2_Silent_p.S145S|NFATC1_ENST00000253506.5_Silent_p.S617S|NFATC1_ENST00000592223.1_Silent_p.S604S|NFATC1_ENST00000329101.4_Silent_p.S604S|NFATC1_ENST00000545796.1_Silent_p.S145S|NFATC1_ENST00000318065.5_Silent_p.S604S|NFATC1_ENST00000591814.1_Silent_p.S617S|NFATC1_ENST00000542384.1_Silent_p.S617S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	617					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGGTCCTGTCTGGCCACAACT	0.612													C|||	1425	0.284545	0.4569	0.17	5008	,	,		18388	0.3849		0.1262	False		,,,				2504	0.1922				p.S617S	GBM(151;1210 2593 28719 45011)	Atlas-SNP	.											.	NFATC1	105	.	0			c.T1851C						PASS	.	C	,,,,	1791,2615	641.0+/-397.4	361,1069,773	104	99	101		1851,1812,435,1812,1851	-4.1	0.7	18	dbSNP_119	101	1334,7266	757.0+/-407.5	109,1116,3075	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	470,2185,3848	CC,CT,TT		15.5116,40.6491,24.0274	,,,,	617/826,604/931,145/354,604/813,617/717	77211764	3125,9881	2203	4300	6503	SO:0001819	synonymous_variant	4772	exon6			CCTGTCTGGCCAC	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1851T>C	18.37:g.77211764T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	75	36	0.48	NM_172390	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																				T|0.727;C|0.273	0.273	strong		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		C	77211764	T	C	77211764	2	2	22	1	0	0	0	0	0	0	0	1	10361	1567	55	3		3	NFATC1	18	77211764	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41287	77211764	865484	9291	14399										
CTDP1	9150	hgsc.bcm.edu	37	chr18	77473127	77473127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggtcccgagaatctcagaCgagaaagaaaggtgggtaac	14	7	1	4	rs2279103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:77473127C>T	ENST00000299543.7	+	7	1166	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	CTDP1_ENST00000075430.7_Missense_Mutation_p.T340M	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	340	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.		T -> M (in dbSNP:rs2279103).		exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GAATCTCAGACGAGAAAGAAA	0.433													C|||	414	0.0826677	0.0045	0.0677	5008	,	,		16222	0.1389		0.169	False		,,,				2504	0.0521				p.T340M		Atlas-SNP	.											.	CTDP1	67	.	0			c.C1019T						PASS	.	C	MET/THR,MET/THR,MET/THR	170,4236	109.5+/-147.8	7,156,2040	54	53	54		662,1019,1019	0.3	0	18	dbSNP_100	54	1538,7062	288.6+/-298.9	139,1260,2901	yes	missense,missense,missense	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	81,81,81	146,1416,4941	TT,TC,CC		17.8837,3.8584,13.1324	benign,benign,benign	221/843,340/962,340/868	77473127	1708,11298	2203	4300	6503	SO:0001583	missense	9150	exon7			CTCAGACGAGAAA	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1019C>T	18.37:g.77473127C>T	ENSP00000299543:p.Thr340Met	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	110	65	0.590909	NM_004715	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	245	0.11217948717948718	7	0.014227642276422764	28	0.07734806629834254	70	0.12237762237762238	140	0.18469656992084432	C	2.918	-0.223925	0.06061	0.038584	0.178837	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.09817	2.97;2.94	4.82	0.332	0.15938	NLI interacting factor (1);	0.670270	0.15369	N	0.265948	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.30114	0.165;0.269;0.103	B;B;B	0.17979	0.013;0.02;0.006	T	0.45877	-0.9231	9	0.40728	T	0.16	-3.9704	3.0092	0.06039	0.2026:0.2918:0.0:0.5055	rs2279103;rs61656723;rs2279103	221;340;340	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	M	340	ENSP00000299543:T340M;ENSP00000075430:T340M	ENSP00000075430:T340M	T	+	2	0	CTDP1	75574115	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	0.186000	0.20125	-0.122000	0.15005	ACG	C|0.885;T|0.115	0.115	strong		0.433	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77473127	C	T	77473127	3	4	22	1	0	0	0	0	1	0	0	0	4002	536	19	1	1045	1	CTDP1	18	77473127	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	261363	77473127	604121	9292	14400										
PARD6G	84552	hgsc.bcm.edu	37	chr18	77918221	77918221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaagatgccgggcaccttCtccagcccgtgcggggtcac	13	14	2	2	rs2280349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr18:77918221C>T	ENST00000353265.3	-	3	761	c.564G>A	c.(562-564)gaG>gaA	p.E188E	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	188	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGGGCACCTTCTCCAGCCCGT	0.701													C|||	1237	0.247005	0.1483	0.2017	5008	,	,		13276	0.494		0.0885	False		,,,				2504	0.3211				p.E188E		Atlas-SNP	.											.	PARD6G	20	.	0			c.G564A						PASS	.	C		646,3756		39,568,1594	24	25	25		564	2	1	18	dbSNP_100	25	538,8058		16,506,3776	no	coding-synonymous	PARD6G	NM_032510.3		55,1074,5370	TT,TC,CC		6.2587,14.6751,9.1091		188/377	77918221	1184,11814	2201	4298	6499	SO:0001819	synonymous_variant	84552	exon3			CACCTTCTCCAGC		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.564G>A	18.37:g.77918221C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_032510	A8QM57	Silent	SNP	ENST00000353265.3	37	CCDS12022.1																																																																																			C|0.871;T|0.129	0.129	strong		0.701	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		T	77918221	C	T	77918221	2	4	22	1	0	0	0	0	0	0	0	1	11447	912	32	2		2	PARD6G	18	77918221	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	445094	77918221	159027	9293	14401										
MIER2	54531	hgsc.bcm.edu	37	chr19	307282	307282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgctgaggtccacatggcTggagatgaggggcagctcct	15	12	0	3	rs35042658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:307282T>C	ENST00000264819.4	-	13	1463	c.1453A>G	c.(1453-1455)Agc>Ggc	p.S485G	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	485			S -> G (in dbSNP:rs35042658).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATGGCTGGAGATGAGG	0.647													T|||	249	0.0497204	0.1808	0.013	5008	,	,		15517	0.0		0.001	False		,,,				2504	0.0				p.S485G		Atlas-SNP	.											.	MIER2	51	.	0			c.A1453G						PASS	.	T	GLY/SER	552,3848		29,494,1677	28	25	26		1453	3	0.2	19	dbSNP_126	26	9,8589		0,9,4290	yes	missense	MIER2	NM_017550.1	56	29,503,5967	CC,CT,TT		0.1047,12.5455,4.316	benign	485/546	307282	561,12437	2200	4299	6499	SO:0001583	missense	54531	exon13			CATGGCTGGAGAT	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1453A>G	19.37:g.307282T>C	ENSP00000264819:p.Ser485Gly	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	161	85	0.52795	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	112	0.05128205128205128	108	0.21951219512195122	4	0.011049723756906077	0	0.0	0	0.0	T	5.043	0.193576	0.09599	0.125455	0.001047	ENSG00000105556	ENST00000264819	T	0.15834	2.39	4.02	3.0	0.34707	.	0.118436	0.38058	N	0.001834	T	0.00012	0.0000	N	0.25485	0.75	0.42449	P	0.007252000000000036	B	0.06786	0.001	B	0.04013	0.001	T	0.37934	-0.9684	9	0.33940	T	0.23	-8.985	5.2116	0.15320	0.0:0.2476:0.0:0.7524	rs35042658	485	Q8N344	MIER2_HUMAN	G	485	ENSP00000264819:S485G	ENSP00000264819:S485G	S	-	1	0	MIER2	258282	1.000000	0.71417	0.220000	0.23810	0.106000	0.19336	1.279000	0.33191	0.701000	0.31803	0.533000	0.62120	AGC	T|0.946;C|0.054	0.054	strong		0.647	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		C	307282	T	C	307282	3	2	22	1	0	0	0	0	1	0	0	0	9581	1580	55	3	192	3	MIER2	19	307282	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10		307282	58821701	9294	14402										
MIER2	54531	hgsc.bcm.edu	37	chr19	327182	327182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcgtgggaggtcacggaCggggtgaggtcgtcagcaga	19	9	2	2	rs7256086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:327182C>T	ENST00000264819.4	-	5	454	c.444G>A	c.(442-444)ccG>ccA	p.P148P	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCACGGACGGGGTGAGGT	0.527													C|||	682	0.136182	0.2799	0.1988	5008	,	,		17693	0.0248		0.1133	False		,,,				2504	0.0358				p.P148P		Atlas-SNP	.											MIER2,lower_third,carcinoma,-1,1	MIER2	51	1	0			c.G444A						scavenged	.	C		1126,3280		137,852,1214	228	203	212		444	-8.3	0.2	19	dbSNP_116	212	802,7798		37,728,3535	no	coding-synonymous	MIER2	NM_017550.1		174,1580,4749	TT,TC,CC		9.3256,25.5561,14.8239		148/546	327182	1928,11078	2203	4300	6503	SO:0001819	synonymous_variant	54531	exon5			CACGGACGGGGTG	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.444G>A	19.37:g.327182C>T		Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	110	61	0.554545	NM_017550	Q9ULM7	Silent	SNP	ENST00000264819.4	37	CCDS32855.1																																																																																			C|0.849;T|0.151	0.151	strong		0.527	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		T	327182	C	T	327182	2	4	22	1	0	0	0	0	0	0	0	1	9581	523	19	1		1	MIER2	19	327182	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19900	327182	58801801	9295	14403										
MIER2	54531	hgsc.bcm.edu	37	chr19	334474	334474	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcctcgcactccccccTaacactgtagttctgtgaca	7	17	1	1	rs11084956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:334474T>G	ENST00000264819.4	-	3	179	c.169A>C	c.(169-171)Agg>Cgg	p.R57R	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCCCCCCTAACACTGTAG	0.597													G|||	941	0.187899	0.466	0.2147	5008	,	,		18155	0.0248		0.1143	False		,,,				2504	0.0368				p.R57R		Atlas-SNP	.											.	MIER2	51	.	0			c.A169C						PASS	.	G		1732,2674		336,1060,807	138	117	124		169	3.6	0	19	dbSNP_120	124	814,7786		38,738,3524	no	coding-synonymous	MIER2	NM_017550.1		374,1798,4331	GG,GT,TT		9.4651,39.31,19.5756		57/546	334474	2546,10460	2203	4300	6503	SO:0001819	synonymous_variant	54531	exon3			CCCCCCTAACACT	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.169A>C	19.37:g.334474T>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_017550	Q9ULM7	Silent	SNP	ENST00000264819.4	37	CCDS32855.1																																																																																			T|0.793;G|0.207	0.207	strong		0.597	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		G	334474	T	G	334474	2	3	22	1	0	0	0	0	0	0	0	1	9581	1521	53	5		5	MIER2	19	334474	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7292	334474	58794509	9296	14404										
THEG	51298	hgsc.bcm.edu	37	chr19	373531	373531	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggtccagtacacagagggCctggaataagcggacggctc	14	11	0	1	rs73489977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:373531C>T	ENST00000342640.4	-	4	546	c.504G>A	c.(502-504)tgG>tgA	p.W168*	THEG_ENST00000346878.2_Splice_Site_p.R144R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	168					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		ACACAGAGGGCCTGGAATAAG	0.677													C|||	186	0.0371406	0.1339	0.0115	5008	,	,		15295	0.0		0.001	False		,,,				2504	0.0				p.W168X		Atlas-SNP	.											.	THEG	58	.	0			c.G504A						PASS	.	C	stop/TRP,	514,3892	229.4+/-244.0	23,468,1712	44	39	41		504,432	3	1	19	dbSNP_130	41	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained-near-splice,coding-synonymous-near-splice	THEG	NM_016585.3,NM_199202.1	,	23,471,6009	TT,TC,CC		0.0349,11.6659,3.9751	,	168/380,144/356	373531	517,12489	2203	4300	6503	SO:0001630	splice_region_variant	51298	exon4			AGAGGGCCTGGAA	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.504-1G>A	19.37:g.373531C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	166	86	0.518072	NM_016585	A6NMJ8	Nonsense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	61	0.027930402930402932	56	0.11382113821138211	5	0.013812154696132596	0	0.0	0	0.0	C	16.59	3.166200	0.57476	0.116659	3.49E-4	ENSG00000105549	ENST00000342640	.	.	.	3.03	3.03	0.35002	.	0.466367	0.16510	N	0.211261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	9.7902	0.40702	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000340088:W168X	W	-	3	0	THEG	324531	1.000000	0.71417	0.985000	0.45067	0.153000	0.21895	3.225000	0.51246	2.008000	0.58898	0.561000	0.74099	TGG	C|0.960;T|0.040	0.040	strong		0.677	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		Nonsense_Mutation	T	373531	C	T	373531	5	4	22	1	0	0	0	0	0	0	1	0	15854	753	26	2	655	2	THEG	19	373531	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39057	373531	58755452	9297	14405										
SHC2	25759	hgsc.bcm.edu	37	chr19	422229	422229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atactgcccggggttggtgaCgctgtctcgcacaaggaagt	14	10	1	1	rs61750917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:422229C>T	ENST00000264554.6	-	11	1536	c.1537G>A	c.(1537-1539)Gtc>Atc	p.V513I		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		GGGTTGGTGACGCTGTCTCGC	0.672													C|||	93	0.0185703	0.0651	0.0086	5008	,	,		14638	0.0		0.001	False		,,,				2504	0.0				p.V513I		Atlas-SNP	.											SHC2,colon,carcinoma,0,1	SHC2	47	1	0			c.G1537A						PASS	.	C	ILE/VAL	310,4082		12,286,1898	23	29	27		1537	-1.1	1	19	dbSNP_129	27	2,8592		0,2,4295	yes	missense	SHC2	NM_012435.2	29	12,288,6193	TT,TC,CC		0.0233,7.0583,2.4026	benign	513/583	422229	312,12674	2196	4297	6493	SO:0001583	missense	25759	exon11			TGGTGACGCTGTC	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1537G>A	19.37:g.422229C>T	ENSP00000264554:p.Val513Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_012435	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	CCDS45891.1	37	0.01694139194139194	34	0.06910569105691057	3	0.008287292817679558	0	0.0	0	0.0	C	8.377	0.836675	0.16891	0.070583	2.33E-4	ENSG00000129946	ENST00000264554	D	0.88431	-2.38	4.76	-1.12	0.09808	SH2 motif (5);	0.368945	0.29624	N	0.011635	T	0.16642	0.0400	N	0.02985	-0.445	0.24255	N	0.995303	B	0.12630	0.006	B	0.14023	0.01	T	0.49351	-0.8949	10	0.37606	T	0.19	-39.6557	8.286	0.31928	0.0:0.4041:0.0:0.5959	.	513	P98077	SHC2_HUMAN	I	513	ENSP00000264554:V513I	ENSP00000264554:V513I	V	-	1	0	SHC2	373229	0.748000	0.28294	0.991000	0.47740	0.309000	0.27889	-0.010000	0.12743	0.029000	0.15352	-0.812000	0.03155	GTC	C|0.981;T|0.019	0.019	strong		0.672	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			T	422229	C	T	422229	3	4	22	1	0	0	0	0	1	0	0	0	14271	536	19	1	219	1	SHC2	19	422229	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48698	422229	58706754	9298	14406										
MADCAM1	8174	hgsc.bcm.edu	37	chr19	498524	498524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccagctgaccgtctccccAgcagccctggtgcctggtga	12	16	1	2	rs2302217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:498524A>G	ENST00000215637.3	+	3	412	c.366A>G	c.(364-366)ccA>ccG	p.P122P	MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Silent_p.P27P|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.P122P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	122	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CCGTCTCCCCAGCAGCCCTGG	0.706													G|||	3173	0.633586	0.826	0.438	5008	,	,		12677	0.753		0.4563	False		,,,				2504	0.5716				p.P122P		Atlas-SNP	.											MADCAM1,NS,carcinoma,0,1	MADCAM1	29	1	0			c.A366G						scavenged	.	G	,	3385,1019		1317,751,134	24	32	29		366,366	-8.3	0	19	dbSNP_100	29	3942,4656		931,2080,1288	no	coding-synonymous,coding-synonymous	MADCAM1	NM_130760.2,NM_130762.2	,	2248,2831,1422	GG,GA,AA		45.8479,23.1381,43.6471	,	122/383,122/296	498524	7327,5675	2202	4299	6501	SO:0001819	synonymous_variant	8174	exon3			CTCCCCAGCAGCC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.366A>G	19.37:g.498524A>G		Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_130760	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	CCDS12028.1																																																																																			A|0.429;G|0.571	0.571	strong		0.706	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		G	498524	A	G	498524	2	3	22	1	0	0	0	0	0	0	0	1	9151	175	7	3		3	MADCAM1	19	498524	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	76295	498524	58630459	9299	14407										
C19orf20	91978	hgsc.bcm.edu	37	chr19	507560	507560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccgccggccggtttcacGgacagcggccgccagtcggt	14	17	1	0	rs61746565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:507560G>A	ENST00000359315.5	+	1	262	c.54G>A	c.(52-54)acG>acA	p.T18T	AC005775.2_ENST00000592413.1_RNA	NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	18					adult behavior (GO:0030534)|multicellular organismal development (GO:0007275)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|synaptic transmission (GO:0007268)|vesicle localization (GO:0051648)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)	tubulin-glutamic acid ligase activity (GO:0070740)										CCGGTTTCACGGACAGCGGCC	0.706													G|||	35	0.00698882	0.025	0.0029	5008	,	,		11141	0.0		0.0	False		,,,				2504	0.0				p.T18T		Atlas-SNP	.											.	.	.	.	0			c.G54A						PASS	.						3	5	5					19																	507560		1241	3077	4318	SO:0001819	synonymous_variant	91978	exon1			TTTCACGGACAGC	BC009520	CCDS42454.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000141933	ENSG00000141933			25058	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 20"	C19orf20		11441184, 12972506	Standard	NM_033513		Approved	GTRGEO22, PGs1	uc002lou.3	Q6ZTW0		ENST00000359315.5:c.54G>A	19.37:g.507560G>A		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	24	23	0.958333	NM_033513	Q96GE2	Silent	SNP	ENST00000359315.5	37	CCDS42454.1																																																																																			G|0.991;A|0.009	0.009	strong		0.706	TPGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451887.2	NM_033513		A	507560	G	A	507560	2	1	22	1	0	0	0	0	0	0	0	1	1912	1103	39	1		1	C19orf20	19	507560	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9036	507560	58621423	9300	14408										
HCN2	610	hgsc.bcm.edu	37	chr19	607984	607984	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccactcgtggagtgaactGtactccttcgcactcttcaa	7	13	2	1	rs3752158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:607984G>C	ENST00000251287.2	+	4	1292	c.1239G>C	c.(1237-1239)ctG>ctC	p.L413L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	413					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		GGAGTGAACTGTACTCCTTCG	0.652													G|||	684	0.136581	0.2587	0.1124	5008	,	,		17579	0.131		0.0636	False		,,,				2504	0.0695				p.L413L	Melanoma(145;1175 2427 8056 36306)	Atlas-SNP	.											.	HCN2	36	.	0			c.G1239C						PASS	.	G		940,3464		103,734,1365	72	48	56		1239	-6.3	0.8	19	dbSNP_107	56	552,8048		18,516,3766	no	coding-synonymous	HCN2	NM_001194.3		121,1250,5131	CC,CG,GG		6.4186,21.3442,11.4734		413/890	607984	1492,11512	2202	4300	6502	SO:0001819	synonymous_variant	610	exon4			TGAACTGTACTCC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1239G>C	19.37:g.607984G>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_001194	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																			G|0.864;C|0.136;A|0.000	0.136	strong		0.652	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		C	607984	G	C	607984	2	2	22	1	0	0	0	0	0	0	0	1	6997	1364	48	4		4	HCN2	19	607984	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100424	607984	58520999	9301	14409										
POLRMT	5442	hgsc.bcm.edu	37	chr19	617573	617573	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcagggagcgccttactcaGagcagaaccgcttgaccagg	13	12	2	3	rs142850300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:617573G>A	ENST00000588649.2	-	19	3662	c.3578C>T	c.(3577-3579)tCt>tTt	p.S1193F	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1193	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		GCCTTACTCAGAGCAGAACCG	0.637													g|||	29	0.00579073	0.0197	0.0043	5008	,	,		11732	0.0		0.0	False		,,,				2504	0.0				p.S1193F		Atlas-SNP	.											.	POLRMT	91	.	0			c.C3578T						PASS	.	G	PHE/SER	73,4333		1,71,2131	42	41	41		3578	2.1	0	19	dbSNP_134	41	0,8600		0,0,4300	yes	missense	POLRMT	NM_005035.3	155	1,71,6431	AA,AG,GG		0.0,1.6568,0.5613	benign	1193/1231	617573	73,12933	2203	4300	6503	SO:0001583	missense	5442	exon19			TACTCAGAGCAGA		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3578C>T	19.37:g.617573G>A	ENSP00000465759:p.Ser1193Phe	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	38	25	0.657895	NM_005035	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	.	0.192	-1.052853	0.01965	0.016568	0.0	ENSG00000099821	ENST00000215591	T	0.47528	0.84	3.21	2.12	0.27331	.	1.125910	0.06566	N	0.747594	T	0.31638	0.0803	M	0.68317	2.08	0.09310	N	1	B	0.14805	0.011	B	0.26310	0.068	T	0.36529	-0.9744	10	0.37606	T	0.19	.	7.4584	0.27280	0.0:0.0:0.7418:0.2582	.	1193	O00411	RPOM_HUMAN	F	1193	ENSP00000215591:S1193F	ENSP00000215591:S1193F	S	-	2	0	POLRMT	568573	0.086000	0.21541	0.007000	0.13788	0.002000	0.02628	1.811000	0.38942	0.645000	0.30675	0.431000	0.28591	TCT	G|0.995;A|0.005	0.005	strong		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	617573	G	A	617573	3	1	22	1	0	0	0	0	1	0	0	0	12238	942	33	2	126	2	POLRMT	19	617573	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9589	617573	58511410	9302	14410										
POLRMT	5442	hgsc.bcm.edu	37	chr19	617804	617804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacggagacatcagctgcGtgagtccagtaacagtcgtg	13	9	1	3	rs144281668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:617804G>A	ENST00000588649.2	-	18	3552	c.3468C>T	c.(3466-3468)caC>caT	p.H1156H	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1156	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		CATCAGCTGCGTGAGTCCAGT	0.642													g|||	3	0.000599042	0.0023	0.0	5008	,	,		11388	0.0		0.0	False		,,,				2504	0.0				p.H1156H		Atlas-SNP	.											.	POLRMT	91	.	0			c.C3468T						PASS	.	G		13,4391		0,13,2189	83	65	71		3468	-7.8	0	19	dbSNP_134	71	1,8597		0,1,4298	no	coding-synonymous	POLRMT	NM_005035.3		0,14,6487	AA,AG,GG		0.0116,0.2952,0.1077		1156/1231	617804	14,12988	2202	4299	6501	SO:0001819	synonymous_variant	5442	exon18			AGCTGCGTGAGTC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3468C>T	19.37:g.617804G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	139	58	0.417266	NM_005035	O60370	Silent	SNP	ENST00000588649.2	37	CCDS12036.1																																																																																			G|0.999;A|0.001	0.001	strong		0.642	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	617804	G	A	617804	2	1	22	1	0	0	0	0	0	0	0	1	12238	1136	40	1		1	POLRMT	19	617804	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	231	617804	58511179	9303	14411										
POLRMT	5442	hgsc.bcm.edu	37	chr19	622304	622304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcactggcaggggccaggGctgctcccgcagggcctcgg	17	15	0	0	rs41545023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:622304G>A	ENST00000588649.2	-	9	1780	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	566					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		AGGGGCCAGGGCTGCTCCCGC	0.706													G|||	32	0.00638978	0.0212	0.0058	5008	,	,		13734	0.0		0.0	False		,,,				2504	0.0				p.P566S		Atlas-SNP	.											.	POLRMT	91	.	0			c.C1696T						PASS	.	G	SER/PRO	59,4143		0,59,2042	5	6	6		1696	3	1	19	dbSNP_127	6	0,8252		0,0,4126	no	missense	POLRMT	NM_005035.3	74	0,59,6168	AA,AG,GG		0.0,1.4041,0.4737	benign	566/1231	622304	59,12395	2101	4126	6227	SO:0001583	missense	5442	exon9			GCCAGGGCTGCTC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1696C>T	19.37:g.622304G>A	ENSP00000465759:p.Pro566Ser	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	42	23	0.547619	NM_005035	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	7.555	0.663560	0.14710	0.014041	0.0	ENSG00000099821	ENST00000215591	T	0.41065	1.01	4.15	3.02	0.34903	.	0.759629	0.13016	N	0.420516	T	0.26231	0.0640	M	0.64170	1.965	0.26553	N	0.973879	B	0.22683	0.073	B	0.20184	0.028	T	0.12553	-1.0543	10	0.30078	T	0.28	-50.68	2.8775	0.05636	0.1015:0.271:0.4629:0.1646	rs41545023	566	O00411	RPOM_HUMAN	S	566	ENSP00000215591:P566S	ENSP00000215591:P566S	P	-	1	0	POLRMT	573304	0.788000	0.28762	1.000000	0.80357	0.557000	0.35523	1.680000	0.37607	2.309000	0.77851	0.561000	0.74099	CCC	.	.	weak		0.706	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	622304	G	A	622304	3	1	22	1	0	0	0	0	1	0	0	0	12238	1203	42	2	2048	2	POLRMT	19	622304	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4500	622304	58506679	9304	14412										
POLRMT	5442	hgsc.bcm.edu	37	chr19	622834	622834	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgcacctgcaggagcatcCgcaccacctcgcgctcgtcc	10	19	0	0	rs146178977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:622834C>G	ENST00000588649.2	-	7	1526	c.1442G>C	c.(1441-1443)cGg>cCg	p.R481P	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	481					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		CAGGAGCATCCGCACCACCTC	0.716													c|||	17	0.00339457	0.0129	0.0	5008	,	,		14871	0.0		0.0	False		,,,				2504	0.0				p.R481P		Atlas-SNP	.											.	POLRMT	91	.	0			c.G1442C						PASS	.	C	PRO/ARG	33,4365		0,33,2166	23	22	22		1442	-8	0	19	dbSNP_134	22	0,8598		0,0,4299	no	missense	POLRMT	NM_005035.3	103	0,33,6465	GG,GC,CC		0.0,0.7503,0.2539	benign	481/1231	622834	33,12963	2199	4299	6498	SO:0001583	missense	5442	exon7			AGCATCCGCACCA		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1442G>C	19.37:g.622834C>G	ENSP00000465759:p.Arg481Pro	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	56	36	0.642857	NM_005035	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.332902	0.24167	0.007503	0.0	ENSG00000099821	ENST00000215591	T	0.41758	0.99	4.01	-8.03	0.01114	.	0.937015	0.08876	N	0.880708	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.27594	0.182	B	0.32724	0.151	T	0.32295	-0.9912	10	0.30854	T	0.27	-0.4611	17.4545	0.87603	0.0:0.1116:0.0:0.8884	.	481	O00411	RPOM_HUMAN	P	481	ENSP00000215591:R481P	ENSP00000215591:R481P	R	-	2	0	POLRMT	573834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.305000	0.08188	-2.543000	0.00484	-2.079000	0.00380	CGG	C|0.997;G|0.003	0.003	strong		0.716	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		G	622834	C	G	622834	3	3	22	1	0	0	0	0	1	0	0	0	12238	652	23	4	2310	4	POLRMT	19	622834	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	530	622834	58506149	9305	14413										
C19orf21	126353	hgsc.bcm.edu	37	chr19	757354	757354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgctgaccccaggaggctGtgtgacctggagcgggagcg	18	11	0	2	rs35090443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:757354G>A	ENST00000215582.6	+	2	511	c.408G>A	c.(406-408)ctG>ctA	p.L136L		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	136					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCAGGAGGCTGTGTGACCTGG	0.672													G|||	94	0.01877	0.0681	0.0058	5008	,	,		17272	0.0		0.0	False		,,,				2504	0.0				p.L136L		Atlas-SNP	.											.	C19orf21	56	.	0			c.G408A						PASS	.	G		230,4172	124.5+/-161.8	8,214,1979	41	39	40		408	-8.1	0	19	dbSNP_126	40	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	C19orf21	NM_173481.2		8,215,6276	AA,AG,GG		0.0116,5.2249,1.7772		136/680	757354	231,12767	2201	4298	6499	SO:0001819	synonymous_variant	126353	exon2			GAGGCTGTGTGAC	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.408G>A	19.37:g.757354G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_173481		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			G|0.982;A|0.018	0.018	strong		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		A	757354	G	A	757354	2	1	22	1	0	0	0	0	0	0	0	1	1913	1364	48	2		2	C19orf21	19	757354	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	134520	757354	58371629	9306	14414										
C19orf21	126353	hgsc.bcm.edu	37	chr19	757483	757483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggcccacctcggtccacGcccctggaggagaacgtggt	13	17	0	1	rs35484463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:757483G>A	ENST00000215582.6	+	2	640	c.537G>A	c.(535-537)acG>acA	p.T179T		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	179					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTCGGTCCACGCCCCTGGAGG	0.652													G|||	94	0.01877	0.0681	0.0058	5008	,	,		16831	0.0		0.0	False		,,,				2504	0.0				p.T179T		Atlas-SNP	.											.	C19orf21	56	.	0			c.G537A						PASS	.	G		220,4166		7,206,1980	19	23	22		537	-5.4	0	19	dbSNP_126	22	1,8587		0,1,4293	no	coding-synonymous	C19orf21	NM_173481.2		7,207,6273	AA,AG,GG		0.0116,5.016,1.7034		179/680	757483	221,12753	2193	4294	6487	SO:0001819	synonymous_variant	126353	exon2			GTCCACGCCCCTG	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.537G>A	19.37:g.757483G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_173481		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			G|0.982;A|0.018	0.018	strong		0.652	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		A	757483	G	A	757483	2	1	22	1	0	0	0	0	0	0	0	1	1913	1074	38	1		1	C19orf21	19	757483	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129	757483	58371500	9307	14415										
PTBP1	5725	hgsc.bcm.edu	37	chr19	804327	804327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacggaggaggctgccaaCaccatggtgaactactacac	10	12	0	1	rs10420953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:804327C>T	ENST00000349038.4	+	5	397	c.324C>T	c.(322-324)aaC>aaT	p.N108N	PTBP1_ENST00000356948.6_Silent_p.N108N|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Silent_p.N108N|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	108	RRM 1. {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)		AGGCTGCCAACACCATGGTGA	0.627													C|||	448	0.0894569	0.0772	0.1527	5008	,	,		15416	0.0377		0.0934	False		,,,				2504	0.1104				p.N108N		Atlas-SNP	.											.	PTBP1	43	.	0			c.C324T						PASS	.	C	,,,	373,4033	187.4+/-214.1	21,331,1851	83	72	76		324,324,324,	4.6	1	19	dbSNP_119	76	791,7809	186.7+/-234.1	24,743,3533	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	,,,	45,1074,5384	TT,TC,CC		9.1977,8.4657,8.9497	,,,	108/558,108/551,108/532,	804327	1164,11842	2203	4300	6503	SO:0001819	synonymous_variant	5725	exon5			TGCCAACACCATG	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.324C>T	19.37:g.804327C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_031990	Q9BUQ0	Silent	SNP	ENST00000349038.4	37	CCDS32859.1																																																																																			C|0.916;T|0.084	0.084	strong		0.627	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			T	804327	C	T	804327	2	4	22	1	0	0	0	0	0	0	0	1	12725	477	17	2		2	PTBP1	19	804327	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46844	804327	58324656	9308	14416										
PTBP1	5725	hgsc.bcm.edu	37	chr19	804612	804612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcggcggcggccgtggaCgcagggatggcgatggccgg	21	12	0	0	rs4986235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:804612C>T	ENST00000349038.4	+	6	589	c.516C>T	c.(514-516)gaC>gaT	p.D172D	PTBP1_ENST00000356948.6_Silent_p.D172D|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Silent_p.D172D|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	172					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)		CGGCCGTGGACGCAGGGATGG	0.692													C|||	421	0.0840655	0.0567	0.1513	5008	,	,		13240	0.0377		0.0944	False		,,,				2504	0.1104				p.D172D		Atlas-SNP	.											.	PTBP1	43	.	0			c.C516T						PASS	.	C	,,,	286,4114		9,268,1923	41	43	43		516,516,516,	-6.4	0.3	19	dbSNP_111	43	783,7811		25,733,3539	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	,,,	34,1001,5462	TT,TC,CC		9.111,6.5,8.2269	,,,	172/558,172/551,172/532,	804612	1069,11925	2200	4297	6497	SO:0001819	synonymous_variant	5725	exon6			CGTGGACGCAGGG	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.516C>T	19.37:g.804612C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	44	23	0.522727	NM_031990	Q9BUQ0	Silent	SNP	ENST00000349038.4	37	CCDS32859.1																																																																																			C|0.922;T|0.078	0.078	strong		0.692	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			T	804612	C	T	804612	2	4	22	1	0	0	0	0	0	0	0	1	12725	535	19	1		1	PTBP1	19	804612	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	285	804612	58324371	9309	14417										
AZU1	566	hgsc.bcm.edu	37	chr19	830854	830854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcccgttttcccaggttTgtcaacgtgactgtgacccc	8	15	2	2	rs595844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:830854T>C	ENST00000233997.2	+	4	528	c.507T>C	c.(505-507)ttT>ttC	p.F169F		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		TTCCCAGGTTTGTCAACGTGA	0.662													t|||	3340	0.666933	0.941	0.6398	5008	,	,		14888	0.495		0.5497	False		,,,				2504	0.6135				p.F169F		Atlas-SNP	.											AZU1,NS,carcinoma,0,1	AZU1	31	1	0			c.T507C						PASS	.	T		3866,540	769.9+/-413.7	1698,470,35	41	40	40		507	-3	0	19	dbSNP_83	40	4598,4002	595.3+/-393.4	1242,2114,944	no	coding-synonymous	AZU1	NM_001700.3		2940,2584,979	CC,CT,TT		46.5349,12.256,34.9223		169/252	830854	8464,4542	2203	4300	6503	SO:0001819	synonymous_variant	566	exon4			CAGGTTTGTCAAC	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.507T>C	19.37:g.830854T>C		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_001700	P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	CCDS12044.1																																																																																			T|0.360;C|0.640	0.640	strong		0.662	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		C	830854	T	C	830854	2	2	22	1	0	0	0	0	0	0	0	1	1243	1809	63	2		2	AZU1	19	830854	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26242	830854	58298129	9310	14418										
AZU1	566	hgsc.bcm.edu	37	chr19	831811	831811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaggccctgacttcttcacCcgagtggcgctcttccgaga	11	15	3	2	rs588442	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:831811C>T	ENST00000233997.2	+	5	711	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		ACTTCTTCACCCGAGTGGCGC	0.711													C|||	405	0.0808706	0.2935	0.0216	5008	,	,		12838	0.0		0.002	False		,,,				2504	0.0				p.T230T		Atlas-SNP	.											.	AZU1	31	.	0			c.C690T						PASS	.	C		1054,3346		120,814,1266	32	36	35		690	0.8	0.1	19	dbSNP_83	35	6,8588		0,6,4291	no	coding-synonymous	AZU1	NM_001700.3		120,820,5557	TT,TC,CC		0.0698,23.9545,8.1576		230/252	831811	1060,11934	2200	4297	6497	SO:0001819	synonymous_variant	566	exon5			CTTCACCCGAGTG	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.690C>T	19.37:g.831811C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	121	54	0.446281	NM_001700	P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	CCDS12044.1																																																																																			C|0.897;T|0.103	0.103	strong		0.711	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		T	831811	C	T	831811	2	4	22	1	0	0	0	0	0	0	0	1	1243	610	22	2		2	AZU1	19	831811	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	957	831811	58297172	9311	14419										
PRTN3	5657	hgsc.bcm.edu	37	chr19	844020	844020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagaacaaactgaacgacGttctcctcatccaggtgggc	11	12	2	2	rs351111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:844020G>A	ENST00000234347.5	+	3	401	c.355G>A	c.(355-357)Gtt>Att	p.V119I	PRTN3_ENST00000544537.2_Missense_Mutation_p.V78I	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	119	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		V -> I (in dbSNP:rs351111). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1681549, ECO:0000269|PubMed:2377228, ECO:0000269|PubMed:2598267, ECO:0000269|PubMed:7539799, ECO:0000269|PubMed:9924693, ECO:0000269|Ref.3}.		collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		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)		ACTGAACGACGTTCTCCTCAT	0.647													g|||	2223	0.44389	0.5333	0.4971	5008	,	,		9006	0.3512		0.4006	False		,,,				2504	0.4254				p.V119I		Atlas-SNP	.											.	PRTN3	9	.	0			c.G355A						PASS	.		ILE/VAL	2319,2083		616,1087,498	33	34	34		355	-3.6	0	19	dbSNP_79	34	3531,5067		711,2109,1479	yes	missense	PRTN3	NM_002777.3	29	1327,3196,1977	AA,AG,GG		41.0677,47.3194,45.0	benign	119/257	844020	5850,7150	2201	4299	6500	SO:0001583	missense	5657	exon3			AACGACGTTCTCC		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.355G>A	19.37:g.844020G>A	ENSP00000234347:p.Val119Ile	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	137	52	0.379562	NM_002777	P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	ENST00000234347.5	37	CCDS32860.1	964	0.4413919413919414	250	0.508130081300813	185	0.511049723756906	213	0.3723776223776224	316	0.41688654353562005	g	0.118	-1.128857	0.01756	0.526806	0.410677	ENSG00000196415	ENST00000234347;ENST00000544537	T	0.49139	0.79	2.73	-3.59	0.04583	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.00012	0.0000	N	0.00473	-1.45	0.80722	P	0.0	B	0.30406	0.278	B	0.28139	0.086	T	0.31475	-0.9942	8	0.02654	T	1	.	7.6584	0.28389	0.6738:0.0:0.3262:0.0	rs351111;rs600071;rs1126597;rs3181721;rs17366042;rs17400579;rs58626854;rs351111	119	P24158	PRTN3_HUMAN	I	119;78	ENSP00000234347:V119I	ENSP00000234347:V119I	V	+	1	0	PRTN3	795020	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.066000	0.03454	-0.588000	0.05882	-0.348000	0.07805	GTT	G|0.546;A|0.454	0.454	strong		0.647	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2	NM_002777		A	844020	G	A	844020	3	1	22	1	0	0	0	0	1	0	0	0	12639	1145	40	1	365	1	PRTN3	19	844020	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12209	844020	58284963	9312	14420										
MED16	10025	hgsc.bcm.edu	37	chr19	879943	879943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagcagctcaccttcccGtggctgtcaatccccaccag	7	20	2	0	rs201392672|rs76403059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:879943G>A	ENST00000589119.1	-	7	1346	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	MED16_ENST00000325464.1_Silent_p.H449H|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Silent_p.H449H|MED16_ENST00000269814.4_Silent_p.H449H|MED16_ENST00000395808.3_Silent_p.H449H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					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)		TCACCTTCCCGTGGCTGTCAA	0.672													C|||	25	0.00499201	0.0182	0.0	5008	,	,		15050	0.0		0.001	False		,,,				2504	0.0				p.H449H		Atlas-SNP	.											MED16,colon,carcinoma,0,1	MED16	61	1	0			c.C1347T						PASS	.	C		34,4270		0,34,2118	13	11	12		1347	-7.9	0.9	19	dbSNP_131	12	3,8491		0,3,4244	yes	coding-synonymous	MED16	NM_005481.2		0,37,6362	AA,AG,GG		0.0353,0.79,0.2891		449/878	879943	37,12761	2152	4247	6399	SO:0001819	synonymous_variant	10025	exon8			CTTCCCGTGGCTG	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.1347C>T	19.37:g.879943G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	121	48	0.396694	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	CCDS12047.1																																																																																			.	.	weak		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		A	879943	G	A	879943	2	1	22	1	0	0	0	0	0	0	0	1	9434	1136	40	1		1	MED16	19	879943	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35923	879943	58249040	9313	14421										
WDR18	57418	hgsc.bcm.edu	37	chr19	991968	991968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccaggcccagtcaccaaTgccgccatcctgctggcgcc	9	21	1	0	rs1127043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:991968T>C	ENST00000251289.5	+	8	968	c.945T>C	c.(943-945)aaT>aaC	p.N315N	WDR18_ENST00000587001.2_Silent_p.N315N	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	315					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		CAGTCACCAATGCCGCCATCC	0.706													N|||	1975	0.394369	0.4758	0.2738	5008	,	,		7631	0.4107		0.2962	False		,,,				2504	0.454				p.N315N		Atlas-SNP	.											.	WDR18	20	.	0			c.T945C						PASS	.	C		1912,2278		470,972,653	8	9	9		945	-0.6	0.9	19	dbSNP_86	9	2388,5854		417,1554,2150	no	coding-synonymous	WDR18	NM_024100.3		887,2526,2803	CC,CT,TT		28.9736,45.6325,34.5882		315/433	991968	4300,8132	2095	4121	6216	SO:0001819	synonymous_variant	57418	exon8			CACCAATGCCGCC		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.945T>C	19.37:g.991968T>C		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	23	6	0.26087	NM_024100	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																			T|0.651;C|0.349	0.349	strong		0.706	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			C	991968	T	C	991968	2	2	22	1	0	0	0	0	0	0	0	1	17275	1461	51	2		2	WDR18	19	991968	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112025	991968	58137015	9314	14422										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003439	1003439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgacatcgcccgtgcccGtcgggtgctggaggccgtac	15	14	0	1	rs55646937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1003439G>A	ENST00000234389.3	+	2	756	c.737G>A	c.(736-738)cGt>cAt	p.R246H	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	246					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCCGTGCCCGTCGGGTGCTG	0.756													N|||	550	0.109824	0.084	0.0331	5008	,	,		11342	0.1954		0.0527	False		,,,				2504	0.1697				p.R246H		Atlas-SNP	.											.	GRIN3B	46	.	0			c.G737A						PASS	.		HIS/ARG	235,3467		5,225,1621	3	4	4		737	-2	0	19	dbSNP_129	4	245,7231		1,243,3494	no	missense	GRIN3B	NM_138690.1	29	6,468,5115	AA,AG,GG		3.2772,6.3479,4.2941	benign	246/1044	1003439	480,10698	1851	3738	5589	SO:0001583	missense	116444	exon2			GTGCCCGTCGGGT		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.737G>A	19.37:g.1003439G>A	ENSP00000234389:p.Arg246His	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_138690	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	211	0.09661172161172162	48	0.0975609756097561	15	0.04143646408839779	114	0.1993006993006993	34	0.044854881266490766	g	11.38	1.621109	0.28889	0.063479	0.032772	ENSG00000116032	ENST00000234389	T	0.11604	2.76	4.05	-2.02	0.07388	.	1.415140	0.04769	N	0.427641	T	0.00012	0.0000	L	0.35341	1.055	0.80722	P	0.0	B	0.12013	0.005	B	0.04013	0.001	T	0.44651	-0.9314	9	0.41790	T	0.15	.	2.6825	0.05098	0.2767:0.1144:0.4807:0.1282	rs55646937;rs61744193	246	O60391	NMD3B_HUMAN	H	246	ENSP00000234389:R246H	ENSP00000234389:R246H	R	+	2	0	GRIN3B	954439	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.050000	0.11904	-0.106000	0.12110	-0.776000	0.03382	CGT	G|0.903;A|0.097	0.097	strong		0.756	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003439	G	A	1003439	3	1	22	1	0	0	0	0	1	0	0	0	6784	1145	40	1	743	1	GRIN3B	19	1003439	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11471	1003439	58125544	9315	14423										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1004740	1004740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccacagggtgcccaggtcTggcccaagctgcgtgtggta	14	14	1	0	rs2240157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1004740T>C	ENST00000234389.3	+	3	1259	c.1240T>C	c.(1240-1242)Tgg>Cgg	p.W414R	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	414			W -> R (in dbSNP:rs2240157).		ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCCAGGTCTGGCCCAAGCT	0.692													N|||	3413	0.68151	0.8048	0.5403	5008	,	,		12051	0.501		0.7157	False		,,,				2504	0.7658				p.W414R		Atlas-SNP	.											.	GRIN3B	46	.	0			c.T1240C						PASS	.	C	ARG/TRP	3447,941		1354,739,101	28	29	29		1240	3.3	0	19	dbSNP_98	29	6108,2472		2186,1736,368	yes	missense	GRIN3B	NM_138690.1	101	3540,2475,469	CC,CT,TT		28.8112,21.4448,26.3186	benign	414/1044	1004740	9555,3413	2194	4290	6484	SO:0001583	missense	116444	exon3			CAGGTCTGGCCCA		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1240T>C	19.37:g.1004740T>C	ENSP00000234389:p.Trp414Arg	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	20	13	0.65	NM_138690	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	1417	0.6488095238095238	390	0.7926829268292683	217	0.5994475138121547	273	0.4772727272727273	537	0.7084432717678101	C	0.103	-1.149021	0.01714	0.785552	0.711888	ENSG00000116032	ENST00000234389	T	0.46063	0.88	4.41	3.35	0.38373	.	0.406531	0.26492	N	0.024067	T	0.00012	0.0000	N	0.00092	-2.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33266	-0.9875	9	0.15066	T	0.55	.	9.8165	0.40856	0.0:0.8221:0.0:0.1779	rs2240157	414	O60391	NMD3B_HUMAN	R	414	ENSP00000234389:W414R	ENSP00000234389:W414R	W	+	1	0	GRIN3B	955740	0.047000	0.20315	0.002000	0.10522	0.005000	0.04900	0.585000	0.23879	0.880000	0.35969	-0.354000	0.07668	TGG	T|0.304;C|0.696	0.696	strong		0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1004740	T	C	1004740	3	2	22	1	0	0	0	0	1	0	0	0	6784	1580	55	3	1250	3	GRIN3B	19	1004740	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1301	1004740	58124243	9316	14424										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1008704	1008704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgctcagctcgctgggcGagcacgccttcttccgcctg	11	17	3	0	rs61744375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1008704G>A	ENST00000234389.3	+	7	2573	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	852					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCGCTGGGCGAGCACGCCTT	0.697													g|||	151	0.0301518	0.1059	0.0144	5008	,	,		11084	0.0		0.001	False		,,,				2504	0.0				p.E852K		Atlas-SNP	.											.	GRIN3B	46	.	0			c.G2554A						PASS	.	G	LYS/GLU	422,3978	195.3+/-220.0	23,376,1801	35	30	31		2554	3.8	1	19	dbSNP_129	31	0,8596		0,0,4298	yes	missense	GRIN3B	NM_138690.1	56	23,376,6099	AA,AG,GG		0.0,9.5909,3.2472	probably-damaging	852/1044	1008704	422,12574	2200	4298	6498	SO:0001583	missense	116444	exon7			CTGGGCGAGCACG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2554G>A	19.37:g.1008704G>A	ENSP00000234389:p.Glu852Lys	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	38	26	0.684211	NM_138690	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	58	0.026556776556776556	52	0.10569105691056911	6	0.016574585635359115	0	0.0	0	0.0	G	31	5.090219	0.94149	0.095909	0.0	ENSG00000116032	ENST00000234389	T	0.24350	1.86	3.78	3.78	0.43462	.	0.000000	0.85682	U	0.000000	T	0.01222	0.0040	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00609	-1.1646	10	0.87932	D	0	.	14.2074	0.65744	0.0:0.0:1.0:0.0	rs61744375	852	O60391	NMD3B_HUMAN	K	852	ENSP00000234389:E852K	ENSP00000234389:E852K	E	+	1	0	GRIN3B	959704	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	9.163000	0.94750	1.661000	0.50771	0.462000	0.41574	GAG	G|0.965;A|0.035	0.035	strong		0.697	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1008704	G	A	1008704	3	1	22	1	0	0	0	0	1	0	0	0	6784	1059	37	1	2580	1	GRIN3B	19	1008704	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3964	1008704	58120279	9317	14425										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1014398	1014398	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcggccacttgtcacgcacAtgctccaggcagttgatggg	13	13	1	1	rs7146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1014398A>G	ENST00000356663.3	-	2	421	c.300T>C	c.(298-300)caT>caC	p.H100H	TMEM259_ENST00000333175.5_Silent_p.H100H	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	100						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGTCACGCACATGCTCCAGGC	0.652													N|||	3381	0.67512	0.8154	0.5231	5008	,	,		17015	0.5308		0.6799	False		,,,				2504	0.7372				p.H100H		Atlas-SNP	.											.	.	.	.	0			c.T300C						PASS	.	G	,	3502,904	334.1+/-303.3	1390,722,91	34	33	33		300,300	-2.2	1	19	dbSNP_52	33	5726,2872	435.4+/-358.0	1923,1880,496	no	coding-synonymous,coding-synonymous	C19orf6	NM_001033026.1,NM_033420.3	,	3313,2602,587	GG,GA,AA		33.4031,20.5175,29.0372	,	100/621,100/409	1014398	9228,3776	2203	4299	6502	SO:0001819	synonymous_variant	91304	exon2			ACGCACATGCTCC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.300T>C	19.37:g.1014398A>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	172	87	0.505814	NM_033420	O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																			A|0.317;G|0.683	0.683	strong		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		G	1014398	A	G	1014398	2	3	22	1	0	0	0	0	0	0	0	1	1941	214	8	2		2	C19orf6	19	1014398	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5694	1014398	58114585	9318	14426										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1014454	1014454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtggatgtaggccaggaCgaagagcacaaacagggcct	15	8	0	1	rs141314760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1014454C>T	ENST00000356663.3	-	2	365	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	TMEM259_ENST00000333175.5_Missense_Mutation_p.V82I	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	82						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TAGGCCAGGACGAAGAGCACA	0.657													g|||	3	0.000599042	0.0023	0.0	5008	,	,		14663	0.0		0.0	False		,,,				2504	0.0				p.V82I		Atlas-SNP	.											.	.	.	.	0			c.G244A						PASS	.	G	ILE/VAL,ILE/VAL	16,4386		0,16,2185	27	26	26		244,244	1.9	1	19	dbSNP_134	26	0,8592		0,0,4296	yes	missense,missense	C19orf6	NM_001033026.1,NM_033420.3	29,29	0,16,6481	TT,TC,CC		0.0,0.3635,0.1231	benign,benign	82/621,82/409	1014454	16,12978	2201	4296	6497	SO:0001583	missense	91304	exon2			CCAGGACGAAGAG	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.244G>A	19.37:g.1014454C>T	ENSP00000349087:p.Val82Ile	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_033420	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	c	1.363	-0.588083	0.03799	0.003635	0.0	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.17	1.89	0.25635	.	0.121554	0.53938	D	0.000048	T	0.10078	0.0247	N	0.02202	-0.64	0.30205	N	0.798305	B;B	0.25904	0.003;0.137	B;B	0.17722	0.004;0.019	T	0.13255	-1.0516	9	0.12766	T	0.61	-12.4541	2.6922	0.05124	0.0:0.4533:0.2917:0.2549	.	82;82	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	I	82	.	ENSP00000331423:V82I	V	-	1	0	C19orf6	965454	1.000000	0.71417	0.993000	0.49108	0.370000	0.29829	3.588000	0.53964	0.994000	0.38892	-0.233000	0.12211	GTC	C|0.999;T|0.001	0.001	strong		0.657	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		T	1014454	C	T	1014454	3	4	22	1	0	0	0	0	1	0	0	0	1941	536	19	1	1658	1	C19orf6	19	1014454	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56	1014454	58114529	9319	14427										
ABCA7	10347	hgsc.bcm.edu	37	chr19	1044712	1044712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcacacgctgatgtggggcAcctggtgggcacgctgggcc	17	13	0	1	rs567222111|rs3764647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1044712A>G	ENST00000263094.6	+	11	1415	c.1184A>G	c.(1183-1185)cAc>cGc	p.H395R	ABCA7_ENST00000435683.2_Missense_Mutation_p.H257R|ABCA7_ENST00000433129.1_Missense_Mutation_p.H395R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	395			H -> R (in dbSNP:rs3764647). {ECO:0000269|PubMed:12111378}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		GATGTGGGGCACCTGGTGGGC	0.677													G|||	545	0.108826	0.2572	0.0259	5008	,	,		14078	0.0923		0.0358	False		,,,				2504	0.0593				p.H395R		Atlas-SNP	.											.	ABCA7	174	.	0			c.A1184G						PASS	.	G	ARG/HIS	1054,3344	689.3+/-405.1	126,802,1271	39	39	39		1184	-4.4	0	19	dbSNP_107	39	348,8248	775.2+/-407.7	4,340,3954	yes	missense	ABCA7	NM_019112.3	29	130,1142,5225	GG,GA,AA		4.0484,23.9654,10.7896	benign	395/2147	1044712	1402,11592	2199	4298	6497	SO:0001583	missense	10347	exon11			TGGGGCACCTGGT	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1184A>G	19.37:g.1044712A>G	ENSP00000263094:p.His395Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	32	0.355556	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	212	0.09706959706959707	128	0.2601626016260163	10	0.027624309392265192	47	0.08216783216783216	27	0.03562005277044855	G	2.961	-0.214544	0.06101	0.239654	0.040484	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85556	-2.0;-2.0	4.1	-4.44	0.03557	.	.	.	.	.	T	0.00012	0.0000	N	0.02751	-0.505	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.02431	-1.1160	8	0.07030	T	0.85	.	3.7456	0.08547	0.4253:0.0:0.1756:0.3991	rs3764647;rs3764647	257;395	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	R	395	ENSP00000263094:H395R;ENSP00000414062:H395R	ENSP00000263094:H395R	H	+	2	0	ABCA7	995712	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-2.738000	0.00800	-1.146000	0.02854	-0.374000	0.07098	CAC	A|0.886;G|0.114	0.114	strong		0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1044712	A	G	1044712	3	3	22	1	0	0	0	0	1	0	0	0	37	159	6	2	1222	2	ABCA7	19	1044712	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30258	1044712	58084271	9320	14428										
ABCA7	10347	hgsc.bcm.edu	37	chr19	1052086	1052086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctccggctactacctgacGctggtgaaggcccgcctgcc	13	16	0	2	rs61576791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1052086G>A	ENST00000263094.6	+	22	3339	c.3108G>A	c.(3106-3108)acG>acA	p.T1036T	ABCA7_ENST00000435683.2_Silent_p.T898T|ABCA7_ENST00000433129.1_Silent_p.T1036T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1036	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		ACTACCTGACGCTGGTGAAGG	0.672													G|||	323	0.0644968	0.2383	0.0101	5008	,	,		10142	0.0		0.001	False		,,,				2504	0.0				p.T1036T		Atlas-SNP	.											.	ABCA7	174	.	0			c.G3108A						PASS	.			761,3593		76,609,1492	29	25	26		3108	-8.9	0	19	dbSNP_129	26	7,8557		0,7,4275	no	coding-synonymous	ABCA7	NM_019112.3		76,616,5767	AA,AG,GG		0.0817,17.4782,5.9452		1036/2147	1052086	768,12150	2177	4282	6459	SO:0001819	synonymous_variant	10347	exon22			CCTGACGCTGGTG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3108G>A	19.37:g.1052086G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	102	44	0.431373	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			G|0.938;A|0.062	0.062	strong		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1052086	G	A	1052086	2	1	22	1	0	0	0	0	0	0	0	1	37	1074	38	1		1	ABCA7	19	1052086	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7374	1052086	58076897	9321	14429										
ABCA7	10347	hgsc.bcm.edu	37	chr19	1058635	1058635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagacaggcagttccagtCacccctgcgctgggaggtgg	16	11	1	1	rs73505232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1058635C>T	ENST00000263094.6	+	38	5399	c.5168C>T	c.(5167-5169)tCa>tTa	p.S1723L	ABCA7_ENST00000433129.1_Missense_Mutation_p.S1723L|ABCA7_ENST00000435683.2_Missense_Mutation_p.S1585L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1723					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		CAGTTCCAGTCACCCCTGCGC	0.552													C|||	196	0.0391374	0.143	0.0101	5008	,	,		17265	0.0		0.0	False		,,,				2504	0.0				p.S1723L		Atlas-SNP	.											.	ABCA7	174	.	0			c.C5168T						PASS	.	C	LEU/SER	578,3828	256.1+/-261.0	45,488,1670	60	62	61		5168	4.2	1	19	dbSNP_130	61	0,8600		0,0,4300	yes	missense	ABCA7	NM_019112.3	145	45,488,5970	TT,TC,CC		0.0,13.1185,4.4441	probably-damaging	1723/2147	1058635	578,12428	2203	4300	6503	SO:0001583	missense	10347	exon38			TCCAGTCACCCCT	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5168C>T	19.37:g.1058635C>T	ENSP00000263094:p.Ser1723Leu	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	96	49	0.510417	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	79	0.036172161172161175	74	0.15040650406504066	5	0.013812154696132596	0	0.0	0	0.0	C	20.3	3.973946	0.74246	0.131185	0.0	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.87650	-2.28;-2.28	4.23	4.23	0.50019	.	.	.	.	.	T	0.09730	0.0239	M	0.88450	2.955	0.28999	N	0.887598	P;D	0.61697	0.899;0.99	P;D	0.67103	0.735;0.949	T	0.35599	-0.9782	9	0.87932	D	0	.	15.318	0.74095	0.0:1.0:0.0:0.0	.	848;1723	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	L	1723	ENSP00000263094:S1723L;ENSP00000414062:S1723L	ENSP00000263094:S1723L	S	+	2	0	ABCA7	1009635	0.985000	0.35326	0.982000	0.44146	0.997000	0.91878	2.532000	0.45659	2.180000	0.69256	0.561000	0.74099	TCA	C|0.952;T|0.048	0.048	strong		0.552	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1058635	C	T	1058635	3	4	22	1	0	0	0	0	1	0	0	0	37	838	29	2	5314	2	ABCA7	19	1058635	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6549	1058635	58070348	9322	14430										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1077985	1077985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcgcgccgggagcaggcAgcacggccaccaagaccctg	15	16	0	1	rs7251797	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1077985A>G	ENST00000313093.2	+	11	1546	c.1315A>G	c.(1315-1317)Agc>Ggc	p.S439G	HMHA1_ENST00000586866.1_Missense_Mutation_p.S443G|HMHA1_ENST00000590214.1_Missense_Mutation_p.S466G|HMHA1_ENST00000536472.1_Missense_Mutation_p.S279G|HMHA1_ENST00000543365.1_Missense_Mutation_p.S322G|HMHA1_ENST00000590577.1_Missense_Mutation_p.S74G|HMHA1_ENST00000539243.2_Missense_Mutation_p.S455G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	439			S -> G (in dbSNP:rs7251797). {ECO:0000269|Ref.5}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		GGGAGCAGGCAGCACGGCCAC	0.697													a|||	2337	0.466653	0.7549	0.4164	5008	,	,		12275	0.3343		0.3449	False		,,,				2504	0.3742				p.S455G		Atlas-SNP	.											.	HMHA1	78	.	0			c.A1363G						PASS	.		GLY/SER	2792,1450		950,892,279	20	20	20		1315	1.2	0	19	dbSNP_116	20	3012,5402		595,1822,1790	no	missense	HMHA1	NM_012292.2	56	1545,2714,2069	GG,GA,AA		35.7975,34.182,45.8597	benign	439/1137	1077985	5804,6852	2121	4207	6328	SO:0001583	missense	23526	exon11			GCAGGCAGCACGG	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1315A>G	19.37:g.1077985A>G	ENSP00000316772:p.Ser439Gly	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	174	172	0.988506	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	978	0.4478021978021978	348	0.7073170731707317	152	0.4198895027624309	211	0.3688811188811189	267	0.35224274406332456	a	0.150	-1.092908	0.01858	0.65818	0.357975	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.23754	1.92;1.92;1.95;1.89	4.64	1.24	0.21308	.	0.464711	0.23760	N	0.044839	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.22977	-1.0201	9	0.23891	T	0.37	-6.9205	6.9125	0.24342	0.6836:0.0:0.3164:0.0	rs7251797;rs17855955;rs61184148;rs7251797	279;455;322;439	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	G	455;439;439;279;433;322	ENSP00000439601:S455G;ENSP00000316772:S439G;ENSP00000445109:S279G;ENSP00000438979:S322G	ENSP00000316772:S439G	S	+	1	0	HMHA1	1028985	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	1.998000	0.40796	-0.124000	0.11724	-0.419000	0.06015	AGC	A|0.534;G|0.466	0.466	strong		0.697	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			G	1077985	A	G	1077985	3	3	22	1	0	0	0	0	1	0	0	0	7240	188	7	3	1357	3	HMHA1	19	1077985	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19350	1077985	58050998	9323	14431										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1079968	1079968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatgcatatgcagacggcGccgctgcccgtgcacttcca	11	14	0	2	rs34047143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1079968G>A	ENST00000313093.2	+	13	1785	c.1554G>A	c.(1552-1554)gcG>gcA	p.A518A	HMHA1_ENST00000539243.2_Silent_p.A534A|HMHA1_ENST00000590577.1_Silent_p.A153A|HMHA1_ENST00000586866.1_Silent_p.A522A|HMHA1_ENST00000590214.1_Silent_p.A545A|HMHA1_ENST00000536472.1_Silent_p.A358A|HMHA1_ENST00000543365.1_Silent_p.A401A	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	518					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TGCAGACGGCGCCGCTGCCCG	0.672													G|||	176	0.0351438	0.1309	0.0043	5008	,	,		15158	0.0		0.0	False		,,,				2504	0.0				p.A534A		Atlas-SNP	.											.	HMHA1	78	.	0			c.G1602A						PASS	.	G		481,3925	223.3+/-239.8	28,425,1750	74	80	78		1554	-6.9	1	19	dbSNP_126	78	0,8600		0,0,4300	no	coding-synonymous	HMHA1	NM_012292.2		28,425,6050	AA,AG,GG		0.0,10.9169,3.6983		518/1137	1079968	481,12525	2203	4300	6503	SO:0001819	synonymous_variant	23526	exon13			GACGGCGCCGCTG	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1554G>A	19.37:g.1079968G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																			G|0.962;A|0.038	0.038	strong		0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1079968	G	A	1079968	2	1	22	1	0	0	0	0	0	0	0	1	7240	1074	38	1		1	HMHA1	19	1079968	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1983	1079968	58049015	9324	14432										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1085690	1085690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtccaacgattcggactcGgacctagaggaggcctccga	13	12	0	1	rs149960692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1085690G>A	ENST00000313093.2	+	23	3327	c.3096G>A	c.(3094-3096)tcG>tcA	p.S1032S	HMHA1_ENST00000591169.1_3'UTR|POLR2E_ENST00000585838.1_5'Flank|HMHA1_ENST00000586866.1_Silent_p.S1036S|HMHA1_ENST00000590214.1_Silent_p.S1059S|HMHA1_ENST00000536472.1_Silent_p.S900S|HMHA1_ENST00000543365.1_Silent_p.S915S|HMHA1_ENST00000590577.1_Silent_p.S667S|HMHA1_ENST00000539243.2_Silent_p.S1048S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1032					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		ATTCGGACTCGGACCTAGAGG	0.617													g|||	36	0.0071885	0.0272	0.0	5008	,	,		17360	0.0		0.0	False		,,,				2504	0.0				p.S1048S		Atlas-SNP	.											.	HMHA1	78	.	0			c.G3144A						PASS	.	G		87,4271		1,85,2093	10	13	12		3096	-6.4	1	19	dbSNP_134	12	1,8533		0,1,4266	no	coding-synonymous	HMHA1	NM_012292.2		1,86,6359	AA,AG,GG		0.0117,1.9963,0.6826		1032/1137	1085690	88,12804	2179	4267	6446	SO:0001819	synonymous_variant	23526	exon23			GGACTCGGACCTA	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.3096G>A	19.37:g.1085690G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	119	63	0.529412	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																			G|0.993;A|0.007	0.007	strong		0.617	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1085690	G	A	1085690	2	1	22	1	0	0	0	0	0	0	0	1	7240	1103	39	1		1	HMHA1	19	1085690	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5722	1085690	58043293	9325	14433										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1109577	1109577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaggcgtcctcccacttCaggccgcggtccacgctgat	11	16	1	1	rs200767766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1109577C>T	ENST00000361757.3	-	28	3381	c.3144G>A	c.(3142-3144)ctG>ctA	p.L1048L	SBNO2_ENST00000438103.2_Silent_p.L991L|SBNO2_ENST00000587024.1_Silent_p.L1038L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1048					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)		CCTCCCACTTCAGGCCGCGGT	0.697													C|||	31	0.0061901	0.0234	0.0	5008	,	,		7099	0.0		0.0	False		,,,				2504	0.0				p.L1048L		Atlas-SNP	.											.	SBNO2	112	.	0			c.G3144A						PASS	.	C	,	57,3687		0,57,1815	7	9	8		2973,3144	2.3	1	19		8	0,8122		0,0,4061	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	0,57,5876	TT,TC,CC		0.0,1.5224,0.4804	,	991/1310,1048/1367	1109577	57,11809	1872	4061	5933	SO:0001819	synonymous_variant	22904	exon28			CCACTTCAGGCCG	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		ENST00000361757.3:c.3144G>A	19.37:g.1109577C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			C|0.986;T|0.014	0.014	strong		0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		T	1109577	C	T	1109577	2	4	22	1	0	0	0	0	0	0	0	1	13863	813	29	2		2	SBNO2	19	1109577	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23887	1109577	58019406	9326	14434										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1110829	1110829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagtactggaacagggcGttctgcttgtgcacctccag	13	10	1	1	rs2302109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1110829G>A	ENST00000361757.3	-	26	3180	c.2943C>T	c.(2941-2943)aaC>aaT	p.N981N	SBNO2_ENST00000438103.2_Silent_p.N924N|SBNO2_ENST00000587024.1_Silent_p.N971N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	981					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)		GGAACAGGGCGTTCTGCTTGT	0.592													G|||	2796	0.558307	0.6604	0.6383	5008	,	,		16879	0.4405		0.505	False		,,,				2504	0.5399				p.N981N		Atlas-SNP	.											.	SBNO2	112	.	0			c.C2943T						PASS	.	G	,	2801,1399		942,917,241	135	141	139		2772,2943	1.7	1	19	dbSNP_100	139	4229,4221		1041,2147,1037	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	1983,3064,1278	AA,AG,GG		49.9527,33.3095,44.4269	,	924/1310,981/1367	1110829	7030,5620	2100	4225	6325	SO:0001819	synonymous_variant	22904	exon26			CAGGGCGTTCTGC	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		ENST00000361757.3:c.2943C>T	19.37:g.1110829G>A		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	194	194	1	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			G|0.461;A|0.539	0.539	strong		0.592	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1110829	G	A	1110829	2	1	22	1	0	0	0	0	0	0	0	1	13863	1136	40	1		1	SBNO2	19	1110829	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1252	1110829	58018154	9327	14435										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1119019	1119019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaggctcaccagcagggcCgcgcggttgtagacgcactc	14	15	1	1	rs2074920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1119019C>T	ENST00000361757.3	-	14	1755	c.1518G>A	c.(1516-1518)gcG>gcA	p.A506A	SBNO2_ENST00000438103.2_Silent_p.A449A|SBNO2_ENST00000587024.1_Silent_p.A506A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	506					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)		CCAGCAGGGCCGCGCGGTTGT	0.672													C|||	2449	0.489018	0.6793	0.6138	5008	,	,		14934	0.2371		0.4642	False		,,,				2504	0.4284				p.A506A		Atlas-SNP	.											.	SBNO2	112	.	0			c.G1518A						PASS	.	C	,	2913,1375		1020,873,251	22	29	26		1347,1518	-7.8	0.3	19	dbSNP_96	26	3934,4528		930,2074,1227	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	1950,2947,1478	TT,TC,CC		46.4902,32.0662,46.298	,	449/1310,506/1367	1119019	6847,5903	2144	4231	6375	SO:0001819	synonymous_variant	22904	exon14			CAGGGCCGCGCGG	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		ENST00000361757.3:c.1518G>A	19.37:g.1119019C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			C|0.519;T|0.481	0.481	strong		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		T	1119019	C	T	1119019	2	4	22	1	0	0	0	0	0	0	0	1	13863	639	23	1		1	SBNO2	19	1119019	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8190	1119019	58009964	9328	14436										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1119963	1119963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgttctgcaggtctagcacAgccttgcccatcttggtgga	11	11	3	0	rs2074921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1119963A>G	ENST00000361757.3	-	12	1446	c.1209T>C	c.(1207-1209)gcT>gcC	p.A403A	SBNO2_ENST00000438103.2_Silent_p.A346A|SBNO2_ENST00000587024.1_Silent_p.A403A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	403					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)		GGTCTAGCACAGCCTTGCCCA	0.627													G|||	2205	0.440296	0.5	0.6037	5008	,	,		18548	0.2371		0.4642	False		,,,				2504	0.4284				p.A403A		Atlas-SNP	.											.	SBNO2	112	.	0			c.T1209C						PASS	.	G	,	1862,2130		461,940,595	49	53	52		1038,1209	-7.8	0.7	19	dbSNP_96	52	3411,4615		785,1841,1387	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	1246,2781,1982	GG,GA,AA		42.4994,46.6433,43.8759	,	346/1310,403/1367	1119963	5273,6745	1996	4013	6009	SO:0001819	synonymous_variant	22904	exon12			TAGCACAGCCTTG	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		ENST00000361757.3:c.1209T>C	19.37:g.1119963A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			A|0.566;C|0.000;G|0.433;T|0.000	0.433	strong		0.627	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		G	1119963	A	G	1119963	2	3	22	1	0	0	0	0	0	0	0	1	13863	175	7	3		3	SBNO2	19	1119963	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	944	1119963	58009020	9329	14437										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1122147	1122147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggatacgacgccctcGaaggcctccccacaccagtc	9	18	0	0	rs2072280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1122147G>A	ENST00000361757.3	-	11	1377	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	SBNO2_ENST00000438103.2_Silent_p.F323F|SBNO2_ENST00000587024.1_Silent_p.F380F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	380					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)		CGACGCCCTCGAAGGCCTCCC	0.677													g|||	2204	0.440096	0.5	0.6066	5008	,	,		15083	0.2371		0.4642	False		,,,				2504	0.4254				p.F380F		Atlas-SNP	.											.	SBNO2	112	.	0			c.C1140T						PASS	.	A	,	1946,2156		517,912,622	18	21	20		969,1140	-4.3	0.9	19	dbSNP_96	20	3583,4681		844,1895,1393	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	1361,2807,2015	AA,AG,GG		43.3567,47.4403,44.7113	,	323/1310,380/1367	1122147	5529,6837	2051	4132	6183	SO:0001819	synonymous_variant	22904	exon11			GCCCTCGAAGGCC	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		ENST00000361757.3:c.1140C>T	19.37:g.1122147G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			G|0.572;A|0.428	0.428	strong		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1122147	G	A	1122147	2	1	22	1	0	0	0	0	0	0	0	1	13863	1049	37	1		1	SBNO2	19	1122147	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2184	1122147	58006836	9330	14438										
MIDN	90007	hgsc.bcm.edu	37	chr19	1250397	1250397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcgcccatgagcctcgcCatccacagcaccacgggcac	11	19	0	1	rs3746107	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1250397C>T	ENST00000591446.2	+	1	511	c.102C>T	c.(100-102)gcC>gcT	p.A34A	MIDN_ENST00000300952.2_Silent_p.A34A			Q504T8	MIDN_HUMAN	midnolin	34	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCCTCGCCATCCACAGCA	0.786													c|||	925	0.184704	0.5325	0.0389	5008	,	,		3815	0.1002		0.0159	False		,,,				2504	0.0787				p.A34A		Atlas-SNP	.											.	MIDN	34	.	0			c.C102T						PASS	.			1831,2463		402,1027,718	9	9	9		102	0.3	1	19	dbSNP_107	9	104,8314		2,100,4107	no	coding-synonymous	MIDN	NM_177401.4		404,1127,4825	TT,TC,CC		1.2354,42.6409,15.2218		34/469	1250397	1935,10777	2147	4209	6356	SO:0001819	synonymous_variant	90007	exon2			CCTCGCCATCCAC	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.102C>T	19.37:g.1250397C>T		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_177401	Q96BW8	Silent	SNP	ENST00000591446.2	37	CCDS32864.1																																																																																			C|0.846;T|0.154	0.154	strong		0.786	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			T	1250397	C	T	1250397	2	4	22	1	0	0	0	0	0	0	0	1	9579	581	21	2		2	MIDN	19	1250397	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	128250	1250397	57878586	9331	14439										
APC2	10297	hgsc.bcm.edu	37	chr19	1469030	1469030	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcctccccggtgcccaaAacgccggcgcgcacccttct	11	19	1	0	rs265278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1469030A>G	ENST00000535453.1	+	14	7443	c.5730A>G	c.(5728-5730)aaA>aaG	p.K1910K	APC2_ENST00000238483.4_Silent_p.K1636K|APC2_ENST00000233607.2_Silent_p.K1910K|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGCCCAAAACGCCGGCGC	0.756													G|||	998	0.199281	0.6036	0.062	5008	,	,		7467	0.0248		0.0497	False		,,,				2504	0.0838				p.K1910K		Atlas-SNP	.											.	APC2	50	.	0			c.A5730G						PASS	.	G		912,2062		65,782,640	2	3	3		5730	4.1	0	19	dbSNP_79	3	244,6352		4,236,3058	no	coding-synonymous	APC2	NM_005883.2		69,1018,3698	GG,GA,AA		3.6992,30.6658,12.0794		1910/2304	1469030	1156,8414	1487	3298	4785	SO:0001819	synonymous_variant	10297	exon15			GCCCAAAACGCCG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5730A>G	19.37:g.1469030A>G		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	23	17	0.73913	NM_005883	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																			A|0.833;G|0.167	0.167	strong		0.756	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		G	1469030	A	G	1469030	2	3	22	1	0	0	0	0	0	0	0	1	764	11	1	2		2	APC2	19	1469030	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	218633	1469030	57659953	9332	14440										
APC2	10297	hgsc.bcm.edu	37	chr19	1469078	1469078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcacaagacgcagagatcGcccgtgcggatcccgttcat	11	14	1	2	rs79021820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1469078G>A	ENST00000535453.1	+	14	7491	c.5778G>A	c.(5776-5778)tcG>tcA	p.S1926S	APC2_ENST00000238483.4_Silent_p.S1652S|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.S1926S			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGAGATCGCCCGTGCGGA	0.771													G|||	198	0.0395367	0.1475	0.0043	5008	,	,		6607	0.0		0.0	False		,,,				2504	0.0				p.S1926S		Atlas-SNP	.											.	APC2	50	.	0			c.G5778A						PASS	.	G		162,2148		1,160,994	1	2	2		5778	-7.8	0.5	19	dbSNP_131	2	3,5457		0,3,2727	no	coding-synonymous	APC2	NM_005883.2		1,163,3721	AA,AG,GG		0.0549,7.013,2.1236		1926/2304	1469078	165,7605	1155	2730	3885	SO:0001819	synonymous_variant	10297	exon15			GAGATCGCCCGTG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5778G>A	19.37:g.1469078G>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	29	19	0.655172	NM_005883	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																			G|0.949;A|0.051	0.051	strong		0.771	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		A	1469078	G	A	1469078	2	1	22	1	0	0	0	0	0	0	0	1	764	1074	38	1		1	APC2	19	1469078	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48	1469078	57659905	9333	14441										
REEP6	92840	hgsc.bcm.edu	37	chr19	1495327	1495327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaagcctgtatctgctgttCggctacggagcgtctctgct	11	12	2	0	rs79574672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1495327C>T	ENST00000233596.3	+	2	254	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	50					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		ATCTGCTGTTCGGCTACGGAG	0.657													C|||	120	0.0239617	0.09	0.0014	5008	,	,		18573	0.0		0.0	False		,,,				2504	0.0				p.F50F		Atlas-SNP	.											REEP6_ENST00000395484,NS,carcinoma,-2,1	REEP6	21	1	0			c.C150T						PASS	.	C		322,4080	171.2+/-201.5	7,308,1886	114	100	105		150	1.9	1	19	dbSNP_131	105	0,8598		0,0,4299	no	coding-synonymous	REEP6	NM_138393.1		7,308,6185	TT,TC,CC		0.0,7.3149,2.4769		50/185	1495327	322,12678	2201	4299	6500	SO:0001819	synonymous_variant	92840	exon2			GCTGTTCGGCTAC	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.150C>T	19.37:g.1495327C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	182	85	0.467033	NM_138393	B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	CCDS12070.1	51	0.023351648351648352	51	0.10365853658536585	0	0.0	0	0.0	0	0.0	C	12.63	1.996371	0.35226	0.073149	0.0	ENSG00000115255	ENST00000395484	.	.	.	4.61	1.93	0.25924	.	.	.	.	.	T	0.03783	0.0107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11299	-1.0593	5	0.87932	D	0	-9.0609	8.2387	0.31645	0.0:0.6717:0.0:0.3283	.	.	.	.	W	118	.	ENSP00000378865:R118W	R	+	1	2	REEP6	1446327	0.890000	0.30428	0.982000	0.44146	0.017000	0.09413	-0.058000	0.11750	0.846000	0.35142	-0.354000	0.07668	CGG	C|0.974;T|0.026	0.026	strong		0.657	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		T	1495327	C	T	1495327	2	4	22	1	0	0	0	0	0	0	0	1	13209	883	31	1		1	REEP6	19	1495327	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26249	1495327	57633656	9334	14442										
ADAMTSL5	339366	hgsc.bcm.edu	37	chr19	1506799	1506799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcggggggctgaggctcCaccccccggggctgaggctg	19	14	0	2	rs79538691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1506799C>T	ENST00000413997.2	-	10	1010	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	ADAMTSL5_ENST00000395467.2_Silent_p.V96V|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000330475.4_Silent_p.V327V			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	337						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCTGAGGCTCCACCCCCCGGG	0.711													C|||	101	0.0201677	0.0756	0.0014	5008	,	,		10308	0.0		0.0	False		,,,				2504	0.0				p.V327V		Atlas-SNP	.											.	ADAMTSL5	24	.	0			c.G981A						PASS	.	C		192,3668		2,188,1740	7	10	9		981	1.9	0.8	19	dbSNP_131	9	1,7767		0,1,3883	no	coding-synonymous	ADAMTSL5	NM_213604.2		2,189,5623	TT,TC,CC		0.0129,4.9741,1.6598		327/472	1506799	193,11435	1930	3884	5814	SO:0001819	synonymous_variant	339366	exon10			AGGCTCCACCCCC	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1011G>A	19.37:g.1506799C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	50	25	0.5	NM_213604	B4DXK7|Q8IW95	Silent	SNP	ENST00000413997.2	37																																																																																				C|0.982;T|0.018	0.018	strong		0.711	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		T	1506799	C	T	1506799	2	4	22	1	0	0	0	0	0	0	0	1	278	581	21	2		2	ADAMTSL5	19	1506799	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11472	1506799	57622184	9335	14443										
TCF3	6929	hgsc.bcm.edu	37	chr19	1622116	1622116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactgctgcccaccgggccGctaccgggcgggaggggcag	17	16	0	0	rs2240590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1622116G>A	ENST00000262965.5	-	10	1103	c.759C>T	c.(757-759)agC>agT	p.S253S	TCF3_ENST00000395423.3_Silent_p.S202S|TCF3_ENST00000588136.1_Silent_p.S253S|TCF3_ENST00000344749.5_Silent_p.S253S|TCF3_ENST00000453954.2_Silent_p.S169S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CCACCGGGCCGCTACCGGGCG	0.741			T	"PBX1, HLF, TFPT"	pre B-ALL								g|||	1698	0.339058	0.593	0.2925	5008	,	,		10107	0.244		0.1163	False		,,,				2504	0.3558				p.S253S		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.C759T						PASS	.	G	,	1908,2318		433,1042,638	6	7	7		759,759	2.7	0.2	19	dbSNP_98	7	1001,7343		85,831,3256	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	518,1873,3894	AA,AG,GG		11.9966,45.1491,23.1424	,	253/652,253/655	1622116	2909,9661	2113	4172	6285	SO:0001819	synonymous_variant	6929	exon10			CGGGCCGCTACCG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.759C>T	19.37:g.1622116G>A		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	20	14	0.7	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.722;A|0.278	0.278	strong		0.741	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1622116	G	A	1622116	2	1	22	1	0	0	0	0	0	0	0	1	15691	1078	38	1		1	TCF3	19	1622116	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	115317	1622116	57506867	9336	14444										
ATP8B3	148229	hgsc.bcm.edu	37	chr19	1811603	1811603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgatcaccgtctcacctcCgcggatgccagcaggacctg	10	16	3	1	rs7250872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1811603C>T	ENST00000310127.6	-	2	371	c.133G>A	c.(133-135)Gga>Aga	p.G45R	ATP8B3_ENST00000526092.2_5'UTR|ATP8B3_ENST00000539485.1_Missense_Mutation_p.G45R|ATP8B3_ENST00000525591.1_5'UTR	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	45			G -> R (in dbSNP:rs7250872).		binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTCTCACCTCCGCGGATGCCA	0.657													c|||	1984	0.396166	0.5068	0.4481	5008	,	,		14880	0.374		0.3141	False		,,,				2504	0.317				p.G45R		Atlas-SNP	.											.	ATP8B3	108	.	0			c.G133A						PASS	.	C	,ARG/GLY	1898,2254		457,984,635	53	61	58	http://www.ncbi.nlm.nih.gov/pubmed?term	,133	1.4	0	19	dbSNP_116	58	2506,5894		375,1756,2069	yes	utr-5,missense	ATP8B3	NM_001178002.1,NM_138813.2	,125	832,2740,2704	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	29.8333,45.7129,35.086	,probably-damaging	,45/1301	1811603	4404,8148	2076	4200	6276	SO:0001583	missense	148229	exon2			CACCTCCGCGGAT	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.133G>A	19.37:g.1811603C>T	ENSP00000311336:p.Gly45Arg	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	859	0.3933150183150183	246	0.5	149	0.4116022099447514	221	0.38636363636363635	243	0.32058047493403696	c	13.83	2.353566	0.41700	0.457129	0.298333	ENSG00000130270	ENST00000310127;ENST00000539485	T;T	0.74421	-0.84;-0.84	2.42	1.37	0.22104	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15473	0.013	B	0.08055	0.003	T	0.40869	-0.9540	8	0.51188	T	0.08	.	5.1659	0.15084	0.0:0.8303:0.0:0.1697	rs7250872;rs12985801;rs16990936;rs58934279;rs7250872	45	O60423	AT8B3_HUMAN	R	45	ENSP00000311336:G45R;ENSP00000443574:G45R	ENSP00000311336:G45R	G	-	1	0	ATP8B3	1762603	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.497000	0.06428	0.589000	0.29677	-0.258000	0.10820	GGA	C|0.614;T|0.386	0.386	strong		0.657	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1811603	C	T	1811603	3	4	22	1	0	0	0	0	1	0	0	0	1196	661	23	1	3929	1	ATP8B3	19	1811603	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	189487	1811603	57317380	9337	14445										
REXO1	57455	hgsc.bcm.edu	37	chr19	1819125	1819125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacacaaccctgcggccacTggtttctggaaggaagggag	15	10	1	0	rs2396359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1819125T>C	ENST00000170168.4	-	8	2750	c.2656A>G	c.(2656-2658)Agt>Ggt	p.S886G	CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	886			S -> G (in dbSNP:rs2396359). {ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTGCGGCCACTGGTTTCTGGA	0.672													.|||	1907	0.380791	0.5802	0.4207	5008	,	,		12655	0.3819		0.2097	False		,,,				2504	0.2577				p.S886G		Atlas-SNP	.											REXO1,NS,carcinoma,0,1	REXO1	55	1	0			c.A2656G						PASS	.	T	GLY/SER	2323,2079		630,1063,508	25	29	28		2656	1.9	0.4	19	dbSNP_100	28	1844,6748		200,1444,2652	yes	missense	REXO1	NM_020695.3	56	830,2507,3160	CC,CT,TT		21.4618,47.2285,32.0686	benign	886/1222	1819125	4167,8827	2201	4296	6497	SO:0001583	missense	57455	exon8			GGCCACTGGTTTC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2656A>G	19.37:g.1819125T>C	ENSP00000170168:p.Ser886Gly	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	118	0.991597	NM_020695	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	800	0.3663003663003663	287	0.5833333333333334	135	0.3729281767955801	224	0.3916083916083916	154	0.20316622691292877	T	9.016	0.983646	0.18889	0.527715	0.214618	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.13778	2.56	3.98	1.86	0.25419	.	0.272384	0.33075	U	0.005318	T	0.00012	0.0000	N	0.17082	0.46	0.37150	P	0.09788699999999995	B;B	0.22276	0.005;0.067	B;B	0.16722	0.004;0.016	T	0.35001	-0.9806	9	0.36615	T	0.2	-8.8227	6.6073	0.22731	0.0:0.1987:0.0:0.8013	rs2396359;rs11537979;rs17853032;rs2396359	195;886	B4DWY3;Q8N1G1	.;REXO1_HUMAN	G	886;158	ENSP00000170168:S886G	ENSP00000170168:S886G	S	-	1	0	REXO1	1770125	0.620000	0.27068	0.435000	0.26784	0.448000	0.32197	0.966000	0.29331	0.214000	0.20742	0.459000	0.35465	AGT	T|0.668;C|0.332	0.332	strong		0.672	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		C	1819125	T	C	1819125	3	2	22	1	0	0	0	0	1	0	0	0	13241	1580	55	3	1045	3	REXO1	19	1819125	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7522	1819125	57309858	9338	14446										
REXO1	57455	hgsc.bcm.edu	37	chr19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccttctcctcactcttCtcttccttggggggctaaga					rs149465929|rs75443592|rs199696044	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495				p.642_643del		Pindel,Atlas-Indel	.											.	REXO1	55	.	0			c.1925_1927del						PASS	.			1300,2964		203,894,1035						3.2	0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				SO:0001651	inframe_deletion	57455	exon3			.	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del	Somatic	162	.	.		WXS	Illumina HiSeq	Phase_I	186	56	0.301	NM_020695	Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	CCDS32866.1																																																																																			CTC|0.704;-|0.296	0.296	strong		0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		-	1825930	CTC	-	1825928	7	5	22	1	0	1	0	1	0	0	0	0	13241	912	32	0	1795	0	REXO1	19	1825928	In_Frame_Del	DEL	CTC	TCGA-G8-6324-01A-11D-2210-10	6803	1825928	57303055	9339	14447										
REXO1	57455	hgsc.bcm.edu	37	chr19	1827565	1827565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccgcacggggcttctccAcaggccgccctcggcccttg	12	18	1	0	rs10415018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1827565A>G	ENST00000170168.4	-	2	1317	c.1223T>C	c.(1222-1224)gTg>gCg	p.V408A	REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	408			V -> A (in dbSNP:rs10415018).			nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGGCTTCTCCACAGGCCGCCC	0.662													.|||	1236	0.246805	0.3669	0.3458	5008	,	,		13078	0.2629		0.1054	False		,,,				2504	0.1431				p.V408A		Atlas-SNP	.											REXO1,NS,carcinoma,0,1	REXO1	55	1	0			c.T1223C						PASS	.	G	ALA/VAL	1444,2932		232,980,976	15	17	17		1223	-0.9	0	19	dbSNP_119	17	857,7703		47,763,3470	no	missense	REXO1	NM_020695.3	64	279,1743,4446	GG,GA,AA		10.0117,32.9982,17.7876	benign	408/1222	1827565	2301,10635	2188	4280	6468	SO:0001583	missense	57455	exon2			TTCTCCACAGGCC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1223T>C	19.37:g.1827565A>G	ENSP00000170168:p.Val408Ala	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	112	38	0.339286	NM_020695	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	534	0.2445054945054945	196	0.3983739837398374	107	0.2955801104972376	158	0.2762237762237762	73	0.09630606860158311	G	0.006	-2.052309	0.00394	0.329982	0.100117	ENSG00000079313	ENST00000170168	T	0.10860	2.83	3.97	-0.92	0.10475	.	1.467800	0.03856	N	0.273126	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45629	-0.9248	9	0.08599	T	0.76	1.2749	0.6493	0.00824	0.2097:0.2826:0.2637:0.2441	rs10415018;rs10415018	408	Q8N1G1	REXO1_HUMAN	A	408	ENSP00000170168:V408A	ENSP00000170168:V408A	V	-	2	0	REXO1	1778565	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.507000	0.06352	-0.526000	0.06383	-1.272000	0.01410	GTG	A|0.781;G|0.219	0.219	strong		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		G	1827565	A	G	1827565	3	3	22	1	0	0	0	0	1	0	0	0	13241	159	6	2	2502	2	REXO1	19	1827565	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1637	1827565	57301418	9340	14448										
KLF16	83855	hgsc.bcm.edu	37	chr19	1854701	1854701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtggtggcgggccagctcGtcggagcgggcgaacttctt	18	11	1	0	rs76157530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1854701G>A	ENST00000250916.4	-	2	586	c.516C>T	c.(514-516)gaC>gaT	p.D172D	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	172					dopamine receptor signaling pathway (GO:0007212)|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)			lung(1)	1		Ovarian(11;1.78e-06)|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)		GGGCCAGCTCGTCGGAGCGGG	0.672													G|||	55	0.0109824	0.0401	0.0029	5008	,	,		10702	0.0		0.0	False		,,,				2504	0.0				p.D172D		Atlas-SNP	.											.	KLF16	9	.	0			c.C516T						PASS	.	G		133,4271	90.6+/-129.3	3,127,2072	35	39	37		516	-1.2	1	19	dbSNP_131	37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLF16	NM_031918.3		3,128,6371	AA,AG,GG		0.0116,3.02,1.0305		172/253	1854701	134,12870	2202	4300	6502	SO:0001819	synonymous_variant	83855	exon2			CAGCTCGTCGGAG	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.516C>T	19.37:g.1854701G>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	43	25	0.581395	NM_031918		Silent	SNP	ENST00000250916.4	37	CCDS12075.1																																																																																			G|0.989;A|0.011	0.011	strong		0.672	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			A	1854701	G	A	1854701	2	1	22	1	0	0	0	0	0	0	0	1	8344	1136	40	1		1	KLF16	19	1854701	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27136	1854701	57274282	9341	14449										
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912934	1912934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcccctacctgtgcacTggctacgacctgtacgtgac	10	16	0	1	rs12984675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1912934T>C	ENST00000602400.1	+	2	1068	c.840T>C	c.(838-840)acT>acC	p.T280T	ADAT3_ENST00000329478.2_Silent_p.T296T|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	280					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		ACCTGTGCACTGGCTACGACC	0.726													C|||	1819	0.363219	0.4803	0.4193	5008	,	,		11860	0.4038		0.2048	False		,,,				2504	0.2863				p.T296T		Atlas-SNP	.											.	ADAT3	15	.	0			c.T888C						PASS	.	C	,	1904,2498	591.8+/-387.6	426,1052,723	57	52	54		,840	-6.8	0.5	19	dbSNP_121	54	1294,7292	728.8+/-406.7	102,1090,3101	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	528,2142,3824	CC,CT,TT		15.071,43.2531,24.6227	,	,280/352	1912934	3198,9790	2201	4293	6494	SO:0001819	synonymous_variant	113179	exon2			GTGCACTGGCTAC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.840T>C	19.37:g.1912934T>C		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	31	31	1	NM_138422		Silent	SNP	ENST00000602400.1	37																																																																																				T|0.727;C|0.273	0.273	strong		0.726	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		C	1912934	T	C	1912934	2	2	22	1	0	0	0	0	0	0	0	1	286	1567	55	3		3	ADAT3	19	1912934	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58233	1912934	57216049	9342	14450										
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912986	1912986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgccatgtgcgccatggccCtggtgcacgcacgcatcctg	13	16	0	0	rs76159002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:1912986C>T	ENST00000602400.1	+	2	1120	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	ADAT3_ENST00000329478.2_Silent_p.L314L|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	298					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		CGCCATGGCCCTGGTGCACGC	0.697													C|||	1187	0.237021	0.3207	0.2594	5008	,	,		12444	0.2252		0.1392	False		,,,				2504	0.2209				p.L314L		Atlas-SNP	.											ADAT3,NS,haematopoietic_neoplasm,0,1	ADAT3	15	1	0			c.C940T						PASS	.	C	,	1347,3059	417.2+/-337.8	226,895,1082	61	54	56		,892	2.9	1	19	dbSNP_131	56	907,7685	191.4+/-237.6	48,811,3437	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	274,1706,4519	TT,TC,CC		10.5563,30.5719,17.3411	,	,298/352	1912986	2254,10744	2203	4296	6499	SO:0001819	synonymous_variant	113179	exon2			ATGGCCCTGGTGC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.892C>T	19.37:g.1912986C>T		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_138422		Silent	SNP	ENST00000602400.1	37																																																																																				C|0.816;T|0.184	0.184	strong		0.697	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		T	1912986	C	T	1912986	2	4	22	1	0	0	0	0	0	0	0	1	286	680	24	2		2	ADAT3	19	1912986	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52	1912986	57215997	9343	14451										
MOBKL2A	126308	hgsc.bcm.edu	37	chr19	2078290	2078290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttggggccccccgacatGacggggcaggactgctccgt	14	14	0	1	rs34483500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2078290G>A	ENST00000357066.3	-	3	649	c.270C>T	c.(268-270)gtC>gtT	p.V90V	MOB3A_ENST00000592280.1_Silent_p.V90V|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	90						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CCCCCGACATGACGGGGCAGG	0.612													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		16424	0.0		0.0	False		,,,				2504	0.0				p.V90V		Atlas-SNP	.											MOBKL2A,colon,carcinoma,-2,1	.	.	1	0			c.C270T						PASS	.	G		60,4346	57.4+/-93.9	1,58,2144	68	54	59		270	1	1	19	dbSNP_126	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MOB3A	NM_130807.2		1,59,6443	AA,AG,GG		0.0116,1.3618,0.469		90/218	2078290	61,12945	2203	4300	6503	SO:0001819	synonymous_variant	126308	exon3			CGACATGACGGGG	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.270C>T	19.37:g.2078290G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	165	86	0.521212	NM_130807	B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	CCDS12081.1																																																																																			G|0.994;A|0.006	0.006	strong		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		A	2078290	G	A	2078290	2	1	22	1	0	0	0	0	0	0	0	1	9684	1277	45	2		2	MOBKL2A	19	2078290	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165304	2078290	57050693	9344	14452			31	60		4	4	199	N	T_G_A	5.499265e-05
MOBKL2A	126308	hgsc.bcm.edu	37	chr19	2078409	2078409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtcctcgcccgggggcaActgcacggccagccgcaggt	15	16	0	0	rs2074893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2078409A>G	ENST00000357066.3	-	3	530	c.151T>C	c.(151-153)Ttg>Ctg	p.L51L	MOB3A_ENST00000592280.1_Silent_p.L51L|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	51						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CCCGGGGGCAACTGCACGGCC	0.652													G|||	2042	0.407748	0.6702	0.2579	5008	,	,		14489	0.1964		0.3618	False		,,,				2504	0.4243				p.L51L		Atlas-SNP	.											.	.	.	.	0			c.T151C						PASS	.	G		2808,1598	493.4+/-362.7	898,1012,293	53	56	55		151	2	1	19	dbSNP_96	55	2976,5624	664.4+/-402.2	523,1930,1847	no	coding-synonymous	MOB3A	NM_130807.2		1421,2942,2140	GG,GA,AA		34.6047,36.2687,44.4718		51/218	2078409	5784,7222	2203	4300	6503	SO:0001819	synonymous_variant	126308	exon3			GGGGCAACTGCAC	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.151T>C	19.37:g.2078409A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	60	32	0.533333	NM_130807	B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	CCDS12081.1																																																																																			A|0.578;G|0.422	0.422	strong		0.652	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		G	2078409	A	G	2078409	2	3	22	1	0	0	0	0	0	0	0	1	9684	40	2	2		2	MOBKL2A	19	2078409	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	119	2078409	57050574	9345	14453			31	60		4	4	199	N	T_G_A	5.499265e-05
MOBKL2A	126308	hgsc.bcm.edu	37	chr19	2078424	2078424	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcaactgcacggccagccGcaggtccagcccggcgttca	14	16	1	0	rs34059622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2078424G>T	ENST00000357066.3	-	3	515	c.136C>A	c.(136-138)Cgg>Agg	p.R46R	MOB3A_ENST00000592280.1_Silent_p.R46R|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	46						intracellular (GO:0005622)	metal ion binding (GO:0046872)										ACGGCCAGCCGCAGGTCCAGC	0.637													G|||	64	0.0127796	0.0461	0.0043	5008	,	,		15140	0.0		0.0	False		,,,				2504	0.0				p.R46R		Atlas-SNP	.											.	.	.	.	0			c.C136A						PASS	.	G		170,4236	112.5+/-150.6	4,162,2037	51	54	53		136	-2.5	0.3	19	dbSNP_126	53	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MOB3A	NM_130807.2		4,164,6334	TT,TG,GG		0.0233,3.8584,1.3227		46/218	2078424	172,12832	2203	4299	6502	SO:0001819	synonymous_variant	126308	exon3			CCAGCCGCAGGTC	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.136C>A	19.37:g.2078424G>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_130807	B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	CCDS12081.1																																																																																			G|0.982;T|0.018	0.018	strong		0.637	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		T	2078424	G	T	2078424	2	4	22	1	0	0	0	0	0	0	0	1	9684	1086	38	4		4	MOBKL2A	19	2078424	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15	2078424	57050559	9346	14454			31	60		4	4	199	N	T_G_A	5.499265e-05
MOBKL2A	126308	hgsc.bcm.edu	37	chr19	2078488	2078488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctcgaagcgctgggtgccTggctcaaacttgcgcttggg	15	11	1	0	rs2074894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2078488T>C	ENST00000357066.3	-	3	451	c.72A>G	c.(70-72)ccA>ccG	p.P24P	MOB3A_ENST00000592280.1_Silent_p.P24P|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	24						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GCTGGGTGCCTGGCTCAAACT	0.627													C|||	1973	0.39397	0.6528	0.2507	5008	,	,		16431	0.1835		0.329	False		,,,				2504	0.4294				p.P24P		Atlas-SNP	.											MOBKL2A,rectum,carcinoma,0,1	.	.	1	0			c.A72G						PASS	.	C		2793,1613	497.7+/-363.9	887,1019,297	55	57	56		72	-8.5	0	19	dbSNP_96	56	2932,5668	665.8+/-402.3	506,1920,1874	no	coding-synonymous	MOB3A	NM_130807.2		1393,2939,2171	CC,CT,TT		34.093,36.6092,44.0181		24/218	2078488	5725,7281	2203	4300	6503	SO:0001819	synonymous_variant	126308	exon3			GGTGCCTGGCTCA	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.72A>G	19.37:g.2078488T>C		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_130807	B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	CCDS12081.1																																																																																			T|0.597;C|0.403	0.403	strong		0.627	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		C	2078488	T	C	2078488	2	2	22	1	0	0	0	0	0	0	0	1	9684	1567	55	3		3	MOBKL2A	19	2078488	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	64	2078488	57050495	9347	14455			31	60		4	4	199	N	T_G_A	5.499265e-05
AP3D1	8943	hgsc.bcm.edu	37	chr19	2116616	2116616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctcacccgagccagctcTtcctcgtccgcctccgacgg	9	20	2	0	rs73512353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2116616T>C	ENST00000345016.5	-	17	2220	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E	AP3D1_ENST00000355272.6_Silent_p.E663E|AP3D1_ENST00000350812.6_Silent_p.E494E|AP3D1_ENST00000356926.4_Silent_p.E572E	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	663					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCAGCTCTTCCTCGTCCG	0.692													T|||	38	0.00758786	0.0265	0.0043	5008	,	,		15549	0.0		0.0	False		,,,				2504	0.0				p.E663E		Atlas-SNP	.											.	AP3D1	81	.	0			c.A1989G						PASS	.	T	,	64,4056		1,62,1997	15	17	16		1716,1989	2.8	1	19	dbSNP_130	16	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	1,62,6185	CC,CT,TT		0.0,1.5534,0.5122	,	572/1113,663/1154	2116616	64,12432	2060	4188	6248	SO:0001819	synonymous_variant	8943	exon17			CAGCTCTTCCTCG	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1989A>G	19.37:g.2116616T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	59	27	0.457627	NM_001261826	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	CCDS42459.1																																																																																			T|0.992;C|0.008	0.008	strong		0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			C	2116616	T	C	2116616	2	2	22	1	0	0	0	0	0	0	0	1	746	1606	56	3		3	AP3D1	19	2116616	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38128	2116616	57012367	9348	14456										
JSRP1	126306	hgsc.bcm.edu	37	chr19	2253641	2253641	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcacagctggaaagccgaGcccagcagcgccaccagcga	13	16	0	0	rs200918439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2253641G>T	ENST00000300961.6	-	5	478	c.414C>A	c.(412-414)ggC>ggA	p.G138G	JSRP1_ENST00000586471.2_Silent_p.G138G|MIR4321_ENST00000592276.1_RNA	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	138	Pro-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		GGAAAGCCGAGCCCAGCAGCG	0.716													G|||	54	0.0107827	0.0363	0.0072	5008	,	,		13645	0.0		0.001	False		,,,				2504	0.0				p.G138G		Atlas-SNP	.											.	JSRP1	18	.	0			c.C414A						PASS	.	G		103,3903		0,103,1900	6	10	9		414	1.9	1	19		9	8,7862		0,8,3927	no	coding-synonymous	JSRP1	NM_144616.3		0,111,5827	TT,TG,GG		0.1017,2.5711,0.9347		138/332	2253641	111,11765	2003	3935	5938	SO:0001819	synonymous_variant	126306	exon5			AGCCGAGCCCAGC	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.414C>A	19.37:g.2253641G>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	24	15	0.625	NM_144616		Silent	SNP	ENST00000300961.6	37	CCDS12086.1																																																																																			G|0.996;T|0.004	0.004	strong		0.716	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		T	2253641	G	T	2253641	2	4	22	1	0	0	0	0	0	0	0	1	7966	958	34	4		4	JSRP1	19	2253641	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	137025	2253641	56875342	9349	14457										
C19orf35	374872	hgsc.bcm.edu	37	chr19	2278755	2278755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccgggcatagatggtaCggaggccctgcagctgccgc	17	12	0	1	rs73518414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2278755C>T	ENST00000342063.3	-	3	533	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	147										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		ATAGATGGTACGGAGGCCCTG	0.721													C|||	1786	0.356629	0.3691	0.4078	5008	,	,		11853	0.5496		0.1312	False		,,,				2504	0.3364				p.R147H		Atlas-SNP	.											.	C19orf35	18	.	0			c.G440A						PASS	.	C	HIS/ARG	1293,2969		171,951,1009	6	8	7		440	0.6	0	19	dbSNP_130	7	1007,7373		69,869,3252	no	missense	C19orf35	NM_198532.2	29	240,1820,4261	TT,TC,CC		12.0167,30.3379,18.1933	benign	147/474	2278755	2300,10342	2131	4190	6321	SO:0001583	missense	374872	exon3			ATGGTACGGAGGC	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.440G>A	19.37:g.2278755C>T	ENSP00000345102:p.Arg147His	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	63	34	0.539683	NM_198532		Missense_Mutation	SNP	ENST00000342063.3	37	CCDS12087.1	694	0.31776556776556775	167	0.3394308943089431	120	0.3314917127071823	304	0.5314685314685315	103	0.1358839050131926	C	11.80	1.747421	0.30955	0.303379	0.120167	ENSG00000188305	ENST00000342063	T	0.16743	2.32	4.16	0.647	0.17796	.	.	.	.	.	T	0.00012	0.0000	M	0.66939	2.045	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.37478	-0.9704	8	0.72032	D	0.01	.	4.7369	0.12993	0.0:0.6131:0.1756:0.2114	.	147	Q6ZS72	CS035_HUMAN	H	147	ENSP00000345102:R147H	ENSP00000345102:R147H	R	-	2	0	C19orf35	2229755	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.208000	0.17415	-0.088000	0.12506	-0.860000	0.03012	CGT	C|0.681;T|0.319	0.319	strong		0.721	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		T	2278755	C	T	2278755	3	4	22	1	0	0	0	0	1	0	0	0	1920	536	19	1	989	1	C19orf35	19	2278755	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25114	2278755	56850228	9350	14458										
TMPRSS9	360200	hgsc.bcm.edu	37	chr19	2389793	2389793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctctgagccatggagcccActgtggctgacgtacacctc	11	14	1	2	rs8100709	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2389793A>G	ENST00000332578.3	+	1	10	c.10A>G	c.(10-12)Act>Gct	p.T4A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	4			T -> A (in dbSNP:rs8100709).		plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGAGCCCACTGTGGCTGA	0.617													A|||	250	0.0499201	0.1815	0.0101	5008	,	,		19564	0.0		0.003	False		,,,				2504	0.0				p.T4A		Atlas-SNP	.											.	TMPRSS9	79	.	0			c.A10G						PASS	.	A	ALA/THR	754,3652	303.2+/-287.8	55,644,1504	63	45	51		10	-4.2	0	19	dbSNP_116	51	20,8580	13.3+/-46.6	0,20,4280	yes	missense	TMPRSS9	NM_182973.1	58	55,664,5784	GG,GA,AA		0.2326,17.113,5.9511	benign	4/1060	2389793	774,12232	2203	4300	6503	SO:0001583	missense	360200	exon1			GAGCCCACTGTGG	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.10A>G	19.37:g.2389793A>G	ENSP00000330264:p.Thr4Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	76	41	0.539474	NM_182973	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	84	0.038461538461538464	81	0.16463414634146342	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	A	2.015	-0.426184	0.04701	0.17113	0.002326	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87256	-2.23	4.16	-4.2	0.03823	.	1.292730	0.05536	N	0.564908	T	0.00524	0.0017	N	0.11560	0.145	0.80722	P	0.0	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.07558	-1.0766	9	0.29301	T	0.29	.	12.5441	0.56188	0.2898:0.0:0.7102:0.0	rs8100709;rs52805984;rs8100709	4;4	Q7Z410;E7EMP4	TMPS9_HUMAN;.	A	4	ENSP00000330264:T4A	ENSP00000330264:T4A	T	+	1	0	TMPRSS9	2340793	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.994000	0.03716	-0.882000	0.03987	-0.432000	0.05891	ACT	A|0.948;G|0.052	0.052	strong		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		G	2389793	A	G	2389793	3	3	22	1	0	0	0	0	1	0	0	0	16250	159	6	2	12	2	TMPRSS9	19	2389793	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	111038	2389793	56739190	9351	14459										
TMPRSS9	360200	hgsc.bcm.edu	37	chr19	2389813	2389813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgtggctgacgtacacctCgtgcccaggacaaccaagga	11	13	0	1	rs8100380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2389813C>T	ENST00000332578.3	+	1	30	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	10					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTACACCTCGTGCCCAGGA	0.632													C|||	247	0.0493211	0.1793	0.0101	5008	,	,		18167	0.0		0.003	False		,,,				2504	0.0				p.L10L		Atlas-SNP	.											.	TMPRSS9	79	.	0			c.C30T						PASS	.	C		753,3653	306.3+/-289.4	56,641,1506	76	55	62		30	-4.5	0	19	dbSNP_116	62	20,8580	13.3+/-46.6	0,20,4280	no	coding-synonymous	TMPRSS9	NM_182973.1		56,661,5786	TT,TC,CC		0.2326,17.0903,5.9434		10/1060	2389813	773,12233	2203	4300	6503	SO:0001819	synonymous_variant	360200	exon1			ACACCTCGTGCCC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.30C>T	19.37:g.2389813C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_182973	Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																			C|0.948;T|0.052	0.052	strong		0.632	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2389813	C	T	2389813	2	4	22	1	0	0	0	0	0	0	0	1	16250	871	31	1		1	TMPRSS9	19	2389813	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20	2389813	56739170	9352	14460										
TMPRSS9	360200	hgsc.bcm.edu	37	chr19	2413788	2413788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaatcgggtgtgcggaaGcccggcgtccaggggtctat	19	9	1	0	rs147023760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2413788G>A	ENST00000332578.3	+	9	1243	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	415	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGCGGAAGCCCGGCGTCC	0.652													G|||	78	0.0155751	0.0575	0.0029	5008	,	,		16111	0.0		0.0	False		,,,				2504	0.0				p.A415T		Atlas-SNP	.											.	TMPRSS9	79	.	0			c.G1243A						PASS	.	G	THR/ALA	191,4215	119.2+/-156.9	7,177,2019	56	60	59		1243	2.9	0	19	dbSNP_134	59	0,8600		0,0,4300	yes	missense	TMPRSS9	NM_182973.1	58	7,177,6319	AA,AG,GG		0.0,4.335,1.4686	possibly-damaging	415/1060	2413788	191,12815	2203	4300	6503	SO:0001583	missense	360200	exon9			GCGGAAGCCCGGC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1243G>A	19.37:g.2413788G>A	ENSP00000330264:p.Ala415Thr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_182973	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	9.621	1.133714	0.21123	0.04335	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88664	-2.41	3.93	2.87	0.33458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.157070	0.29806	N	0.011145	T	0.54711	0.1875	N	0.25647	0.755	0.09310	N	1	D;P	0.76494	0.999;0.587	D;P	0.79108	0.992;0.486	T	0.69367	-0.5164	10	0.15066	T	0.55	.	12.189	0.54257	0.0:0.1739:0.8261:0.0	.	415;449	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	449;415	ENSP00000330264:A415T	ENSP00000330264:A415T	A	+	1	0	TMPRSS9	2364788	0.674000	0.27549	0.004000	0.12327	0.000000	0.00434	2.621000	0.46418	0.637000	0.30526	-0.314000	0.08810	GCC	G|0.983;A|0.017	0.017	strong		0.652	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		A	2413788	G	A	2413788	3	1	22	1	0	0	0	0	1	0	0	0	16250	971	34	2	1277	2	TMPRSS9	19	2413788	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23975	2413788	56715195	9353	14461										
LMNB2	84823	hgsc.bcm.edu	37	chr19	2432450	2432450	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcgcaggatgtacttgggCgtgaacttgtaggcgatctc	15	9	1	1	rs11882908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2432450C>G	ENST00000582871.1	-	9	1580	c.1494G>C	c.(1492-1494)acG>acC	p.T498T	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.T518T	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	498	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACTTGGGCGTGAACTTGT	0.632													C|||	143	0.0285543	0.1059	0.0043	5008	,	,		14898	0.0		0.0	False		,,,				2504	0.0				p.T518T		Atlas-SNP	.											LMNB2,NS,carcinoma,0,2	LMNB2	40	2	0			c.G1554C						scavenged	.	C		491,3915	228.5+/-243.3	26,439,1738	300	225	250		1494	-8.2	0.9	19	dbSNP_120	250	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LMNB2	NM_032737.2		26,442,6035	GG,GC,CC		0.0349,11.1439,3.7982		498/601	2432450	494,12512	2203	4300	6503	SO:0001819	synonymous_variant	84823	exon9			CTTGGGCGTGAAC	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1494G>C	19.37:g.2432450C>G		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_032737	O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37																																																																																				C|0.960;G|0.040	0.040	strong		0.632	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		G	2432450	C	G	2432450	2	3	22	1	0	0	0	0	0	0	0	1	8850	755	27	4		4	LMNB2	19	2432450	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18662	2432450	56696533	9354	14462										
DIRAS1	148252	hgsc.bcm.edu	37	chr19	2717256	2717256	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtctgtcctcttctgcttCccggagcgcttgccgtcgat	11	15	3	0	rs3745812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2717256C>G	ENST00000323469.4	-	2	732	c.549G>C	c.(547-549)ggG>ggC	p.G183G	DIRAS1_ENST00000585334.1_Silent_p.G183G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	183					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TCTTCTGCTTCCCGGAGCGCT	0.652													C|||	988	0.197284	0.0166	0.2277	5008	,	,		11924	0.494		0.1362	False		,,,				2504	0.1769				p.G183G		Atlas-SNP	.											.	DIRAS1	26	.	0			c.G549C						PASS	.	C		193,4213	122.5+/-159.9	4,185,2014	110	104	106		549	-0.1	1	19	dbSNP_107	106	1276,7320	250.8+/-277.5	87,1102,3109	no	coding-synonymous	DIRAS1	NM_145173.3		91,1287,5123	GG,GC,CC		14.8441,4.3804,11.2983		183/199	2717256	1469,11533	2203	4298	6501	SO:0001819	synonymous_variant	148252	exon2			CTGCTTCCCGGAG	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.549G>C	19.37:g.2717256C>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	119	63	0.529412	NM_145173		Silent	SNP	ENST00000323469.4	37	CCDS12092.1																																																																																			C|0.851;G|0.149	0.149	strong		0.652	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			G	2717256	C	G	2717256	2	3	22	1	0	0	0	0	0	0	0	1	4530	842	30	4		4	DIRAS1	19	2717256	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	284806	2717256	56411727	9355	14463										
SGTA	6449	hgsc.bcm.edu	37	chr19	2762585	2762585	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtcggggtccagctccagAgccttcttgtagtaagccac	11	12	1	1	rs2302491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2762585A>C	ENST00000221566.2	-	7	716	c.555T>G	c.(553-555)gcT>gcG	p.A185A		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	185					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		CCAGCTCCAGAGCCTTCTTGT	0.637													C|||	2394	0.478035	0.6513	0.2478	5008	,	,		16066	0.6647		0.2356	False		,,,				2504	0.4642				p.A185A		Atlas-SNP	.											.	SGTA	19	.	0			c.T555G						PASS	.	C		2421,1985	557.1+/-379.7	673,1075,455	135	128	131		555	0.8	0.4	19	dbSNP_100	131	1953,6647	724.8+/-406.5	226,1501,2573	no	coding-synonymous	SGTA	NM_003021.3		899,2576,3028	CC,CA,AA		22.7093,45.0522,33.6306		185/314	2762585	4374,8632	2203	4300	6503	SO:0001819	synonymous_variant	6449	exon7			CTCCAGAGCCTTC	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.555T>G	19.37:g.2762585A>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	110	45	0.409091	NM_003021	D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	CCDS12094.1																																																																																			A|0.635;C|0.365	0.365	strong		0.637	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		C	2762585	A	C	2762585	2	2	22	1	0	0	0	0	0	0	0	1	14225	291	11	5		5	SGTA	19	2762585	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45329	2762585	56366398	9356	14464										
THOP1	7064	hgsc.bcm.edu	37	chr19	2790508	2790508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccagcagatagaggagCgcaccagggagctcatcgag	15	11	1	2	rs76198851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2790508C>T	ENST00000307741.6	+	2	309	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	36					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GATAGAGGAGCGCACCAGGGA	0.612													C|||	13	0.00259585	0.0098	0.0	5008	,	,		20345	0.0		0.0	False		,,,				2504	0.0				p.R36C		Atlas-SNP	.											.	THOP1	49	.	0			c.C106T						PASS	.	C	CYS/ARG	28,4378	36.0+/-67.5	0,28,2175	115	95	102		106	3.9	0	19	dbSNP_131	102	0,8600		0,0,4300	yes	missense	THOP1	NM_003249.3	180	0,28,6475	TT,TC,CC		0.0,0.6355,0.2153	probably-damaging	36/690	2790508	28,12978	2203	4300	6503	SO:0001583	missense	7064	exon2			GAGGAGCGCACCA		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.106C>T	19.37:g.2790508C>T	ENSP00000304467:p.Arg36Cys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	46	27	0.586957	NM_003249	B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	CCDS12095.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	16.20	3.056103	0.55325	0.006355	0.0	ENSG00000172009	ENST00000307741	T	0.08193	3.12	4.9	3.86	0.44501	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.130158	0.52532	D	0.000063	T	0.11879	0.0289	M	0.68952	2.095	0.50039	D	0.999846	D	0.67145	0.996	P	0.53450	0.726	T	0.00494	-1.1706	10	0.66056	D	0.02	-22.5297	8.1975	0.31405	0.1546:0.7598:0.0:0.0856	.	36	P52888	THOP1_HUMAN	C	36	ENSP00000304467:R36C	ENSP00000304467:R36C	R	+	1	0	THOP1	2741508	0.704000	0.27836	0.010000	0.14722	0.544000	0.35116	3.482000	0.53186	1.055000	0.40461	0.561000	0.74099	CGC	C|0.998;T|0.002	0.002	strong		0.612	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			T	2790508	C	T	2790508	3	4	22	1	0	0	0	0	1	0	0	0	15868	768	27	1	112	1	THOP1	19	2790508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27923	2790508	56338475	9357	14465										
ZNF554	115196	hgsc.bcm.edu	37	chr19	2823100	2823100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgctgggtacctgccccGctggtcccaggtgagatgtc	15	13	0	1	rs181024964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2823100G>A	ENST00000317243.5	+	2	314	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ZNF554_ENST00000591265.1_Missense_Mutation_p.R39H	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	39					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(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TACCTGCCCCGCTGGTCCCAG	0.567													G|||	7	0.00139776	0.0045	0.0	5008	,	,		18086	0.001		0.0	False		,,,				2504	0.0				p.R39H		Atlas-SNP	.											.	ZNF554	47	.	0			c.G116A						PASS	.	G	HIS/ARG	7,3795		0,7,1894	51	55	54		116	0.6	0	19		54	0,8248		0,0,4124	yes	missense	ZNF554	NM_001102651.1	29	0,7,6018	AA,AG,GG		0.0,0.1841,0.0581	possibly-damaging	39/539	2823100	7,12043	1901	4124	6025	SO:0001583	missense	115196	exon2			TGCCCCGCTGGTC	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.116G>A	19.37:g.2823100G>A	ENSP00000321132:p.Arg39His	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	71	34	0.478873	NM_001102651	Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	CCDS42462.1	5	0.0022893772893772895	3	0.006097560975609756	0	0.0	2	0.0034965034965034965	0	0.0	G	6.811	0.518786	0.13005	0.001841	0.0	ENSG00000172006	ENST00000317243	T	0.07021	3.23	1.71	0.624	0.17659	Krueppel-associated box (1);	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.35050	0.482	B	0.24974	0.057	T	0.40813	-0.9543	9	0.56958	D	0.05	.	5.8806	0.18854	0.0:0.6302:0.3698:0.0	.	39	Q86TJ5	ZN554_HUMAN	H	39	ENSP00000321132:R39H	ENSP00000321132:R39H	R	+	2	0	ZNF554	2774100	0.000000	0.05858	0.041000	0.18516	0.029000	0.11900	-0.244000	0.08903	0.276000	0.22118	-0.502000	0.04539	CGC	G|0.998;A|0.002	0.002	strong		0.567	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		A	2823100	G	A	2823100	3	1	22	1	0	0	0	0	1	0	0	0	17982	1087	38	1	122	1	ZNF554	19	2823100	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32592	2823100	56305883	9358	14466										
ZNF554	115196	hgsc.bcm.edu	37	chr19	2834595	2834595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttcctctctcaaccagcaCgagcgaactcacacgggcga	9	16	3	0	rs61744481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2834595C>T	ENST00000317243.5	+	5	1560	c.1362C>T	c.(1360-1362)caC>caT	p.H454H		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	454					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(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TCAACCAGCACGAGCGAACTC	0.542													C|||	314	0.0626997	0.1619	0.0159	5008	,	,		20720	0.0		0.0328	False		,,,				2504	0.0573				p.H454H		Atlas-SNP	.											.	ZNF554	47	.	0			c.C1362T						PASS	.	C		727,3675	281.1+/-275.7	65,597,1539	63	74	70		1362	-5.7	0.1	19	dbSNP_129	70	228,8370	91.9+/-153.9	2,224,4073	no	coding-synonymous	ZNF554	NM_001102651.1		67,821,5612	TT,TC,CC		2.6518,16.5152,7.3462		454/539	2834595	955,12045	2201	4299	6500	SO:0001819	synonymous_variant	115196	exon5			CCAGCACGAGCGA	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1362C>T	19.37:g.2834595C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	134	73	0.544776	NM_001102651	Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	CCDS42462.1																																																																																			C|0.961;T|0.039	0.039	strong		0.542	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		T	2834595	C	T	2834595	2	4	22	1	0	0	0	0	0	0	0	1	17982	535	19	1		1	ZNF554	19	2834595	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11495	2834595	56294388	9359	14467										
ZNF556	80032	hgsc.bcm.edu	37	chr19	2877365	2877365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaattgtaatcgtcatctgCgcaagaattgttgtactagt	9	6	2	1	rs10421121	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2877365C>T	ENST00000307635.2	+	4	496	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ZNF556_ENST00000586426.1_Missense_Mutation_p.R136C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	137			R -> C (in dbSNP:rs10421121).		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(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TCGTCATCTGCGCAAGAATTG	0.423													C|||	492	0.0982428	0.2663	0.0692	5008	,	,		21015	0.001		0.0656	False		,,,				2504	0.0256				p.R137C		Atlas-SNP	.											.	ZNF556	73	.	0			c.C409T						PASS	.	C	CYS/ARG	1125,3281	402.2+/-332.3	141,843,1219	130	112	118		409	-1.8	0	19	dbSNP_119	118	497,8103	143.6+/-199.6	15,467,3818	yes	missense	ZNF556	NM_024967.1	180	156,1310,5037	TT,TC,CC		5.7791,25.5334,12.4712	benign	137/457	2877365	1622,11384	2203	4300	6503	SO:0001583	missense	80032	exon4			CATCTGCGCAAGA	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.409C>T	19.37:g.2877365C>T	ENSP00000302603:p.Arg137Cys	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	97	52	0.536082	NM_024967	Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	186	0.08516483516483517	115	0.23373983739837398	27	0.07458563535911603	1	0.0017482517482517483	43	0.05672823218997362	C	11.41	1.631765	0.29068	0.255334	0.057791	ENSG00000172000	ENST00000307635	T	0.06142	3.34	1.95	-1.8	0.07907	.	.	.	.	.	T	0.00012	0.0000	L	0.39245	1.2	0.80722	P	0.0	P	0.46952	0.887	B	0.23419	0.046	T	0.48559	-0.9025	8	0.87932	D	0	.	6.0856	0.19964	0.0:0.6044:0.0:0.3956	rs10421121;rs10421121	137	Q9HAH1	ZN556_HUMAN	C	137	ENSP00000302603:R137C	ENSP00000302603:R137C	R	+	1	0	ZNF556	2828365	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.315000	0.08081	-0.540000	0.06265	-0.501000	0.04562	CGC	C|0.889;T|0.111	0.111	strong		0.423	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		T	2877365	C	T	2877365	3	4	22	1	0	0	0	0	1	0	0	0	17984	768	27	1	423	1	ZNF556	19	2877365	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42770	2877365	56251618	9360	14468										
TLE6	79816	hgsc.bcm.edu	37	chr19	2994903	2994903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccccccctccaggtgccTgagatgtctccagtcacgtg	10	17	2	1	rs34831575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2994903T>C	ENST00000246112.4	+	17	1821	c.1620T>C	c.(1618-1620)ccT>ccC	p.P540P	TLE6_ENST00000452088.1_Silent_p.P417P	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	540					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		TCCAGGTGCCTGAGATGTCTC	0.597													t|||	1588	0.317093	0.4077	0.3919	5008	,	,		11958	0.3353		0.2356	False		,,,				2504	0.2065				p.P540P		Atlas-SNP	.											.	TLE6	68	.	0			c.T1620C						PASS	.	C	,	1572,2832		304,964,934	63	42	49		1620,1251	-3	0	19	dbSNP_126	49	1893,6705		207,1479,2613	no	coding-synonymous,coding-synonymous	TLE6	NM_001143986.1,NM_024760.2	,	511,2443,3547	CC,CT,TT		22.0167,35.6948,26.6497	,	540/573,417/450	2994903	3465,9537	2202	4299	6501	SO:0001819	synonymous_variant	79816	exon17			GGTGCCTGAGATG	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1620T>C	19.37:g.2994903T>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001143986	J3KMZ1	Silent	SNP	ENST00000246112.4	37	CCDS45910.1	704	0.32234432234432236	186	0.3780487804878049	125	0.3453038674033149	206	0.36013986013986016	187	0.24670184696569922	t	4.589	0.109429	0.08780	0.356948	0.220167	ENSG00000104953	ENST00000441927	.	.	.	3.37	-3.05	0.05396	.	.	.	.	.	.	.	.	.	.	.	0.23496	P	0.99755694	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3614	5.1751	0.15131	0.0:0.3401:0.1554:0.5044	rs34831575	.	.	.	R	417	.	.	X	+	1	0	TLE6	2945903	.	.	0.008000	0.14137	0.003000	0.03518	.	.	-0.787000	0.04510	-0.946000	0.02672	TGA	T|0.715;C|0.285	0.285	strong		0.597	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		C	2994903	T	C	2994903	2	2	22	1	0	0	0	0	0	0	0	1	15939	1567	55	3		3	TLE6	19	2994903	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	117538	2994903	56134080	9361	14469										
TLE6	79816	hgsc.bcm.edu	37	chr19	2994921	2994921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgagatgtctccagtcacGtgctgtgacgtctcttccaa	9	13	3	2	rs34551565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:2994921G>A	ENST00000246112.4	+	17	1839	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	TLE6_ENST00000452088.1_Silent_p.T423T	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	546					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CTCCAGTCACGTGCTGTGACG	0.622													G|||	1456	0.290735	0.3495	0.3329	5008	,	,		11993	0.3343		0.2266	False		,,,				2504	0.2025				p.T546T		Atlas-SNP	.											.	TLE6	68	.	0			c.G1638A						PASS	.	G	,	1371,3035	427.6+/-341.6	234,903,1066	75	48	57		1638,1269	0.4	0.1	19	dbSNP_126	57	1860,6740	302.9+/-306.2	200,1460,2640	no	coding-synonymous,coding-synonymous	TLE6	NM_001143986.1,NM_024760.2	,	434,2363,3706	AA,AG,GG		21.6279,31.1167,24.8424	,	546/573,423/450	2994921	3231,9775	2203	4300	6503	SO:0001819	synonymous_variant	79816	exon17			AGTCACGTGCTGT	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1638G>A	19.37:g.2994921G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_001143986	J3KMZ1	Silent	SNP	ENST00000246112.4	37	CCDS45910.1																																																																																			G|0.736;A|0.264	0.264	strong		0.622	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		A	2994921	G	A	2994921	2	1	22	1	0	0	0	0	0	0	0	1	15939	1132	40	1		1	TLE6	19	2994921	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	2994921	56134062	9362	14470										
AES	166	hgsc.bcm.edu	37	chr19	3062857	3062857	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtggttcttgctgagcctTagtttccttttctgcagaaa	10	9	2	2	rs11539938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3062857T>C	ENST00000327141.4	-	0	0				AES_ENST00000586839.1_5'Flank|AES_ENST00000592330.1_5'Flank|AES_ENST00000221561.8_Silent_p.L23L	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		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)		tgctgagccttagtttccttt	0.607													C|||	1930	0.385383	0.2103	0.438	5008	,	,		8565	0.5169		0.4026	False		,,,				2504	0.4315				p.L23L	Pancreas(11;265 407 11814 26840 35326)	Atlas-SNP	.											.	AES	14	.	0			c.A69G						PASS	.	C		608,2046		73,462,792	55	46	49		69	0.5	0.1	19	dbSNP_120	49	1943,2675		389,1165,755	no	coding-synonymous	AES	NM_198969.1		462,1627,1547	CC,CT,TT		42.0745,22.9088,35.0798		23/265	3062857	2551,4721	1327	2309	3636	SO:0001631	upstream_gene_variant	166	exon1			GAGCCTTAGTTTC	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117			19.37:g.3062857T>C	Exception_encountered	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	89	48	0.539326	NM_198969	B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	CCDS12102.1																																																																																			T|0.607;C|0.393	0.393	strong		0.607	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		C	3062857	T	C	3062857	1	2	22	0	1	0	0	0	0	0	0	0	352	1741	61	2		2	AES	19	3062857	5'Flank	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67936	3062857	56066126	9363	14471										
NCLN	56926	hgsc.bcm.edu	37	chr19	3186085	3186085	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaggcgtcttgtctgccGctcggcttcatcgtcttcct	10	14	4	1	rs11551095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3186085G>T	ENST00000246117.4	+	1	488	c.57G>T	c.(55-57)ccG>ccT	p.P19P	NCLN_ENST00000590671.1_Intron	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	19				P -> L (in Ref. 6; CAG38597). {ECO:0000305}.	regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTCTGCCGCTCGGCTTCA	0.721													g|||	2771	0.553315	0.6006	0.5288	5008	,	,		9423	0.5238		0.5318	False		,,,				2504	0.5593				p.P19P		Atlas-SNP	.											NCLN,NS,carcinoma,0,1	NCLN	27	1	0			c.G57T						PASS	.	T		2654,1752	620.9+/-393.6	810,1034,359	48	34	39		57	-1.7	1	19	dbSNP_120	39	4550,4050	574.3+/-390.0	1199,2152,949	no	coding-synonymous	NCLN	NM_020170.3		2009,3186,1308	TT,TG,GG		47.093,39.764,44.6102		19/564	3186085	7204,5802	2203	4300	6503	SO:0001819	synonymous_variant	56926	exon1			TCTGCCGCTCGGC	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.57G>T	19.37:g.3186085G>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	89	45	0.505618	NM_020170	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	CCDS32869.1																																																																																			G|0.450;T|0.550	0.550	strong		0.721	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		T	3186085	G	T	3186085	2	4	22	1	0	0	0	0	0	0	0	1	10227	1074	38	4		4	NCLN	19	3186085	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	123228	3186085	55942898	9364	14472										
NCLN	56926	hgsc.bcm.edu	37	chr19	3207398	3207398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttctccacagagtcaagccGgccgtctttgacctgctcct	8	15	3	2	rs76473246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3207398G>A	ENST00000246117.4	+	14	1994	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	NCLN_ENST00000590671.1_Silent_p.P447P	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	521					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTCAAGCCGGCCGTCTTTG	0.652													A|||	149	0.0297524	0.1059	0.013	5008	,	,		16237	0.0		0.0	False		,,,				2504	0.0				p.P521P		Atlas-SNP	.											.	NCLN	27	.	0			c.G1563A						PASS	.	A		442,3964	778.2+/-414.3	15,412,1776	137	132	134		1563	-8.7	0.7	19	dbSNP_131	134	4,8596	812.7+/-407.1	0,4,4296	no	coding-synonymous	NCLN	NM_020170.3		15,416,6072	AA,AG,GG		0.0465,10.0318,3.4292		521/564	3207398	446,12560	2203	4300	6503	SO:0001819	synonymous_variant	56926	exon14			CAAGCCGGCCGTC	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1563G>A	19.37:g.3207398G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_020170	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	CCDS32869.1																																																																																			G|0.967;A|0.033	0.033	strong		0.652	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		A	3207398	G	A	3207398	2	1	22	1	0	0	0	0	0	0	0	1	10227	1103	39	1		1	NCLN	19	3207398	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21313	3207398	55921585	9365	14473										
NCLN	56926	hgsc.bcm.edu	37	chr19	3207422	3207422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctttgacctgctcctggcTgttggcattgctgcctacct	10	13	1	1	rs3816054	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3207422T>C	ENST00000246117.4	+	14	2018	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	NCLN_ENST00000590671.1_Silent_p.A455A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	529					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCCTGGCTGTTGGCATTG	0.662													C|||	1337	0.266973	0.3525	0.1772	5008	,	,		16588	0.4097		0.0656	False		,,,				2504	0.2751				p.A529A		Atlas-SNP	.											.	NCLN	27	.	0			c.T1587C						PASS	.	C		1323,3083	690.7+/-405.3	208,907,1088	126	120	122		1587	-3.8	0.4	19	dbSNP_107	122	408,8192	795.4+/-407.5	10,388,3902	no	coding-synonymous	NCLN	NM_020170.3		218,1295,4990	CC,CT,TT		4.7442,30.0272,13.3092		529/564	3207422	1731,11275	2203	4300	6503	SO:0001819	synonymous_variant	56926	exon14			CCTGGCTGTTGGC	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1587T>C	19.37:g.3207422T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	95	44	0.463158	NM_020170	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	CCDS32869.1																																																																																			T|0.820;C|0.180	0.180	strong		0.662	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		C	3207422	T	C	3207422	2	2	22	1	0	0	0	0	0	0	0	1	10227	1567	55	3		3	NCLN	19	3207422	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24	3207422	55921561	9366	14474										
NCLN	56926	hgsc.bcm.edu	37	chr19	3207646	3207646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacttcagcctcctctacaAgaccgtccagaggctgctcg	9	16	2	2	rs2288949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3207646A>G	ENST00000246117.4	+	15	2083	c.1652A>G	c.(1651-1653)aAg>aGg	p.K551R	NCLN_ENST00000591062.1_3'UTR|NCLN_ENST00000590671.1_Missense_Mutation_p.K477R	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	551			K -> R (in dbSNP:rs2288949). {ECO:0000269|PubMed:11230166, ECO:0000269|Ref.6}.		regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCTACAAGACCGTCCAG	0.672													A|||	1029	0.205471	0.1301	0.1614	5008	,	,		13460	0.4087		0.0646	False		,,,				2504	0.274				p.K551R		Atlas-SNP	.											.	NCLN	27	.	0			c.A1652G						PASS	.	A	ARG/LYS	591,3815	251.2+/-258.0	38,515,1650	44	38	40		1652	2.6	1	19	dbSNP_100	40	398,8202	123.8+/-182.6	10,378,3912	yes	missense	NCLN	NM_020170.3	26	48,893,5562	GG,GA,AA		4.6279,13.4135,7.6042	benign	551/564	3207646	989,12017	2203	4300	6503	SO:0001583	missense	56926	exon15			TCTACAAGACCGT	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1652A>G	19.37:g.3207646A>G	ENSP00000246117:p.Lys551Arg	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	162	76	0.469136	NM_020170	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	CCDS32869.1	418	0.19139194139194138	66	0.13414634146341464	57	0.1574585635359116	244	0.42657342657342656	51	0.06728232189973615	A	12.46	1.945716	0.34377	0.134135	0.046279	ENSG00000125912	ENST00000246117	T	0.30448	1.53	3.61	2.58	0.30949	.	0.862061	0.10469	N	0.670979	T	0.00012	0.0000	N	0.12182	0.205	0.38347	P	0.05578000000000005	B;B	0.15930	0.015;0.009	B;B	0.16289	0.015;0.006	T	0.49072	-0.8977	9	0.20046	T	0.44	-8.9712	6.4848	0.22083	0.8827:0.0:0.1173:0.0	rs2288949;rs11551091;rs17696536;rs57678984;rs2288949	550;551	Q969V3-2;Q969V3	.;NCLN_HUMAN	R	551	ENSP00000246117:K551R	ENSP00000246117:K551R	K	+	2	0	NCLN	3158646	0.972000	0.33761	0.972000	0.41901	0.843000	0.47879	1.070000	0.30653	0.461000	0.27071	0.459000	0.35465	AAG	A|0.876;G|0.124	0.124	strong		0.672	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		G	3207646	A	G	3207646	3	3	22	1	0	0	0	0	1	0	0	0	10227	72	3	3	1710	3	NCLN	19	3207646	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	224	3207646	55921337	9367	14475										
C19orf28	126321	hgsc.bcm.edu	37	chr19	3546340	3546340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagcagcacagccgctgcGtacacggccacacccagtcc	9	20	0	0	rs11555328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3546340G>A	ENST00000355415.2	-	7	1276	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	MFSD12_ENST00000591878.1_5'Flank|MFSD12_ENST00000398558.4_Silent_p.Y369Y|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Silent_p.Y369Y	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	369					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAGCCGCTGCGTACACGGCCA	0.677													G|||	924	0.184505	0.3737	0.1326	5008	,	,		14365	0.0129		0.1491	False		,,,				2504	0.1789				p.Y369Y		Atlas-SNP	.											.	MFSD12	22	.	0			c.C1107T						PASS	.	G	,,	1320,3020		213,894,1063	22	30	28		1107,1107,1107	-5.5	0	19	dbSNP_120	28	1381,7147		115,1151,2998	no	coding-synonymous,coding-synonymous,coding-synonymous	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	,,	328,2045,4061	AA,AG,GG		16.1937,30.4147,20.9901	,,	369/474,369/539,369/481	3546340	2701,10167	2170	4264	6434	SO:0001819	synonymous_variant	126321	exon7			CGCTGCGTACACG	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1107C>T	19.37:g.3546340G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	172	69	0.401163	NM_001042680	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	CCDS42465.1																																																																																			G|0.834;A|0.166	0.166	strong		0.677	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		A	3546340	G	A	3546340	2	1	22	1	0	0	0	0	0	0	0	1	1917	1140	40	1		1	C19orf28	19	3546340	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	338694	3546340	55582643	9368	14476										
GIPC3	126326	hgsc.bcm.edu	37	chr19	3586543	3586543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggacatgcagaagctcctGgggggtcagataggcctgga	17	8	1	2	rs8113232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3586543G>A	ENST00000322315.5	+	2	321	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTCCTGGGGGGTCAGA	0.577											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1136	0.226837	0.5643	0.1066	5008	,	,		14480	0.0367		0.1392	False		,,,				2504	0.1421				p.L92L		Atlas-SNP	.											.	GIPC3	27	.	0			c.G276A						PASS	.	A		2272,2134	576.6+/-384.3	581,1110,512	76	77	76		276	1.3	1	19	dbSNP_116	76	1105,7495	766.9+/-407.6	75,955,3270	no	coding-synonymous	GIPC3	NM_133261.2		656,2065,3782	AA,AG,GG		12.8488,48.434,25.9649		92/313	3586543	3377,9629	2203	4300	6503	SO:0001819	synonymous_variant	126326	exon2			GCTCCTGGGGGGT	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.276G>A	19.37:g.3586543G>A		Somatic	120	0	0	612	WXS	Illumina HiSeq	Phase_I	118	118	1	NM_133261	O75227	Silent	SNP	ENST00000322315.5	37	CCDS32871.1																																																																																			G|0.758;A|0.242	0.242	strong		0.577	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		A	3586543	G	A	3586543	2	1	22	1	0	0	0	0	0	0	0	1	6394	1335	47	2		2	GIPC3	19	3586543	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40203	3586543	55542440	9369	14477										
C19orf29	58509	hgsc.bcm.edu	37	chr19	3614538	3614538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtcttccccttgaacacCgactgcacatcagagctgac	7	14	2	3	rs60651483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3614538C>T	ENST00000429344.2	-	7	1264	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.S404S|CACTIN_ENST00000221899.3_Silent_p.S336S	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	404					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCTTGAACACCGACTGCACAT	0.637													C|||	692	0.138179	0.1921	0.0375	5008	,	,		15802	0.2341		0.0388	False		,,,				2504	0.1401				p.S404S		Atlas-SNP	.											.	.	.	.	0			c.G1212A						PASS	.	C	,	670,3476		51,568,1454	67	74	72		1212,1212	-8.2	0.9	19	dbSNP_129	72	334,8064		2,330,3867	no	coding-synonymous,coding-synonymous	C19orf29	NM_001080543.1,NM_021231.1	,	53,898,5321	TT,TC,CC		3.9771,16.1602,8.0038	,	404/759,404/759	3614538	1004,11540	2073	4199	6272	SO:0001819	synonymous_variant	58509	exon7			GAACACCGACTGC	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1212G>A	19.37:g.3614538C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	179	107	0.597765	NM_021231	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	CCDS45920.1																																																																																			C|0.890;T|0.110	0.110	strong		0.637	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			T	3614538	C	T	3614538	2	4	22	1	0	0	0	0	0	0	0	1	1918	639	23	1		1	C19orf29	19	3614538	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27995	3614538	55514445	9370	14478										
TJP3	27134	hgsc.bcm.edu	37	chr19	3747890	3747890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgcgttaacagcgactaCgagacggacggcgagggcgg	17	11	0	1	rs10409928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3747890C>T	ENST00000541714.2	+	19	2883	c.2421C>T	c.(2419-2421)taC>taT	p.Y807Y	TJP3_ENST00000382008.3_Silent_p.Y821Y|TJP3_ENST00000539908.2_Silent_p.Y771Y|TJP3_ENST00000262968.9_Silent_p.Y840Y|TJP3_ENST00000587686.1_Silent_p.Y826Y|TJP3_ENST00000589378.1_Silent_p.Y816Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	807					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGCGACTACGAGACGGACG	0.672													C|||	286	0.0571086	0.177	0.0187	5008	,	,		16934	0.0		0.0	False		,,,				2504	0.0399				p.Y816Y		Atlas-SNP	.											.	TJP3	79	.	0			c.C2448T						PASS	.	C		652,3752	261.0+/-264.0	45,562,1595	35	31	32		2520	-6.7	0.8	19	dbSNP_119	32	4,8592	3.0+/-9.4	0,4,4294	no	coding-synonymous	TJP3	NM_014428.1		45,566,5889	TT,TC,CC		0.0465,14.8047,5.0462		840/953	3747890	656,12344	2202	4298	6500	SO:0001819	synonymous_variant	27134	exon19			CGACTACGAGACG	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2421C>T	19.37:g.3747890C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	132	76	0.575758	NM_001267561	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	CCDS32873.2																																																																																			C|0.946;T|0.054	0.054	strong		0.672	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3747890	C	T	3747890	2	4	22	1	0	0	0	0	0	0	0	1	15928	547	19	1		1	TJP3	19	3747890	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	133352	3747890	55381093	9371	14479										
TJP3	27134	hgsc.bcm.edu	37	chr19	3747910	3747910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagacggacggcgagggcgGcgcgtacacggatggcgagg	21	10	0	1	rs10408494	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3747910G>A	ENST00000541714.2	+	19	2903	c.2441G>A	c.(2440-2442)gGc>gAc	p.G814D	TJP3_ENST00000382008.3_Missense_Mutation_p.G828D|TJP3_ENST00000539908.2_Missense_Mutation_p.G778D|TJP3_ENST00000262968.9_Missense_Mutation_p.G847D|TJP3_ENST00000587686.1_Missense_Mutation_p.G833D|TJP3_ENST00000589378.1_Missense_Mutation_p.G823D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	814					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGGGCGGCGCGTACACG	0.692													G|||	244	0.048722	0.1747	0.0187	5008	,	,		15847	0.0		0.0	False		,,,				2504	0.0				p.G823D		Atlas-SNP	.											.	TJP3	79	.	0			c.G2468A						PASS	.	G	ASP/GLY	642,3762	260.7+/-263.8	41,560,1601	36	32	33		2540	2.8	0.9	19	dbSNP_119	33	4,8594	3.0+/-9.4	0,4,4295	yes	missense	TJP3	NM_014428.1	94	41,564,5896	AA,AG,GG		0.0465,14.5777,4.9685	benign	847/953	3747910	646,12356	2202	4299	6501	SO:0001583	missense	27134	exon19			AGGGCGGCGCGTA	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2441G>A	19.37:g.3747910G>A	ENSP00000439278:p.Gly814Asp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	140	80	0.571429	NM_001267561	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	85	0.03891941391941392	81	0.16463414634146342	4	0.011049723756906077	0	0.0	0	0.0	G	9.121	1.008881	0.19199	0.145777	4.65E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.11821	2.74;2.92;2.78;2.85	2.81	2.81	0.32909	.	0.137458	0.47455	U	0.000231	T	0.00073	0.0002	M	0.62723	1.935	0.31716	P	0.638979	P;P;P;P	0.47762	0.835;0.9;0.745;0.835	B;B;B;B	0.41813	0.367;0.367;0.202;0.367	T	0.18903	-1.0322	9	0.87932	D	0	.	12.4552	0.55700	0.0:0.0:1.0:0.0	rs10408494	833;847;828;814	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	D	814;778;828;847	ENSP00000439278:G814D;ENSP00000439991:G778D;ENSP00000371438:G828D;ENSP00000262968:G847D	ENSP00000262968:G847D	G	+	2	0	TJP3	3698910	1.000000	0.71417	0.950000	0.38849	0.016000	0.09150	4.057000	0.57455	1.069000	0.40788	0.511000	0.50034	GGC	G|0.950;A|0.050	0.050	strong		0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3747910	G	A	3747910	3	1	22	1	0	0	0	0	1	0	0	0	15928	1203	42	2	2610	2	TJP3	19	3747910	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	3747910	55381073	9372	14480										
APBA3	9546	hgsc.bcm.edu	37	chr19	3759802	3759802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcagaggccccctccaccCattctggggagtcagaatcc	10	16	2	2	rs35932323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3759802C>A	ENST00000316757.3	-	2	661	c.461G>T	c.(460-462)tGg>tTg	p.W154L	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	154			W -> L (in dbSNP:rs35932323).		in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTCCACCCATTCTGGGGA	0.637													C|||	145	0.0289537	0.1067	0.0058	5008	,	,		15097	0.0		0.0	False		,,,				2504	0.0				p.W154L		Atlas-SNP	.											.	APBA3	28	.	0			c.G461T						PASS	.	C	LEU/TRP	361,4039		17,327,1856	22	26	25		461	2.4	0.2	19	dbSNP_126	25	4,8580		0,4,4288	yes	missense	APBA3	NM_004886.3	61	17,331,6144	AA,AC,CC		0.0466,8.2045,2.8112	possibly-damaging	154/576	3759802	365,12619	2200	4292	6492	SO:0001583	missense	9546	exon2			TCCACCCATTCTG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.461G>T	19.37:g.3759802C>A	ENSP00000315136:p.Trp154Leu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_004886	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	53	0.024267399267399268	50	0.1016260162601626	3	0.008287292817679558	0	0.0	0	0.0	C	8.915	0.959726	0.18507	0.082045	4.66E-4	ENSG00000011132	ENST00000316757	T	0.06849	3.25	4.67	2.42	0.29668	.	0.166985	0.29040	N	0.013333	T	0.00178	0.0005	L	0.27053	0.805	0.22213	N	0.999285	B	0.22003	0.063	B	0.19666	0.026	T	0.45906	-0.9229	10	0.22109	T	0.4	.	6.1778	0.20453	0.1873:0.7142:0.0:0.0985	rs35932323	154	O96018	APBA3_HUMAN	L	154	ENSP00000315136:W154L	ENSP00000315136:W154L	W	-	2	0	APBA3	3710802	0.002000	0.14202	0.211000	0.23655	0.049000	0.14656	0.219000	0.17641	1.041000	0.40125	0.561000	0.74099	TGG	C|0.975;A|0.025	0.025	strong		0.637	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			A	3759802	C	A	3759802	3	1	22	1	0	0	0	0	1	0	0	0	758	595	21	4	1306	4	APBA3	19	3759802	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11892	3759802	55369181	9373	14481										
APBA3	9546	hgsc.bcm.edu	37	chr19	3760056	3760056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggatgggcccaccagatcGcctggcagagcttcaaactg	14	12	1	2	rs61729800	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3760056G>A	ENST00000316757.3	-	2	407	c.207C>T	c.(205-207)ggC>ggT	p.G69G	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	69					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAGATCGCCTGGCAGAG	0.637													G|||	145	0.0289537	0.1067	0.0058	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0				p.G69G		Atlas-SNP	.											APBA3,colon,carcinoma,0,1	APBA3	28	1	0			c.C207T						PASS	.	G		388,4014	187.4+/-214.1	19,350,1832	46	47	47		207	-8	0	19	dbSNP_129	47	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	APBA3	NM_004886.3		19,355,6127	AA,AG,GG		0.0581,8.8142,3.0226		69/576	3760056	393,12609	2201	4300	6501	SO:0001819	synonymous_variant	9546	exon2			CAGATCGCCTGGC	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.207C>T	19.37:g.3760056G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_004886	O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37	CCDS12110.1																																																																																			G|0.973;A|0.027	0.027	strong		0.637	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			A	3760056	G	A	3760056	2	1	22	1	0	0	0	0	0	0	0	1	758	1074	38	1		1	APBA3	19	3760056	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	254	3760056	55368927	9374	14482										
MATK	4145	hgsc.bcm.edu	37	chr19	3789321	3789321	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgaggtctgccttctcttcGttcagcagggaaatgtccct	10	13	3	0	rs74830030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3789321G>A	ENST00000310132.6	-	0	0				MATK_ENST00000395040.2_5'Flank|MATK_ENST00000590821.1_5'UTR|MATK_ENST00000395045.2_Nonsense_Mutation_p.R9*	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ccttctcttcgttcagcaggg	0.493													G|||	104	0.0207668	0.0726	0.0115	5008	,	,		19422	0.0		0.0	False		,,,				2504	0.0				p.R9X		Atlas-SNP	.											.	MATK	108	.	0			c.C25T						PASS	.	G	stop/ARG	253,4153	146.5+/-181.1	8,237,1958	46	44	45		25	-2.8	0	19	dbSNP_131	45	1,8599		0,1,4299	yes	stop-gained	MATK	NM_002378.3		8,238,6257	AA,AG,GG		0.0116,5.7422,1.9529		9/509	3789321	254,12752	2203	4300	6503	SO:0001631	upstream_gene_variant	4145	exon2			CTCTTCGTTCAGC	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679			19.37:g.3789321G>A	Exception_encountered	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	122	68	0.557377	NM_002378	B3KNZ9|Q9NST8	Nonsense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	28	0.01282051282051282	25	0.0508130081300813	3	0.008287292817679558	0	0.0	0	0.0	G	19.36	3.813366	0.70912	0.057422	1.16E-4	ENSG00000007264	ENST00000395045	.	.	.	1.4	-2.8	0.05823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	2.4484	4.5873	0.12289	0.0:0.4596:0.3083:0.2321	.	.	.	.	X	9	.	ENSP00000378485:R9X	R	-	1	2	MATK	3740321	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.190000	0.09615	-0.756000	0.04703	0.455000	0.32223	CGA	G|0.980;A|0.020	0.020	strong		0.493	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		A	3789321	G	A	3789321	1	1	22	0	1	0	0	0	0	0	0	0	9332	1153	40	1		1	MATK	19	3789321	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29265	3789321	55339662	9375	14483										
ITGB1BP3	27231	hgsc.bcm.edu	37	chr19	3942110	3942110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggcatgaagtcccgagagGagctcttccgtgaagtcctg	13	11	1	3	rs16992131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3942110G>A	ENST00000168977.2	+	8	822	c.532G>A	c.(532-534)Gag>Aag	p.E178K	NMRK2_ENST00000593949.1_Missense_Mutation_p.E183K|NMRK2_ENST00000599576.1_Missense_Mutation_p.G109E	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	178			E -> K (in dbSNP:rs16992131).		NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTCCCGAGAGGAGCTCTTCCG	0.642													G|||	117	0.0233626	0.084	0.0072	5008	,	,		15546	0.0		0.001	False		,,,				2504	0.0				p.E178K		Atlas-SNP	.											.	.	.	.	0			c.G532A						PASS	.	G	LYS/GLU	299,4107	154.4+/-187.8	9,281,1913	47	47	47		532	2.8	0	19	dbSNP_123	47	7,8593	5.0+/-18.6	0,7,4293	yes	missense	ITGB1BP3	NM_170678.2	56	9,288,6206	AA,AG,GG		0.0814,6.7862,2.3528	benign	178/231	3942110	306,12700	2203	4300	6503	SO:0001583	missense	27231	exon8			CGAGAGGAGCTCT	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	608705	"integrin beta 1 binding protein 3"	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.532G>A	19.37:g.3942110G>A	ENSP00000168977:p.Glu178Lys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	81	38	0.469136	NM_170678	B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	CCDS12115.1	41	0.018772893772893772	39	0.07926829268292683	2	0.0055248618784530384	0	0.0	0	0.0	G	11.37	1.619506	0.28801	0.067862	8.14E-4	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.59502	0.26	3.83	2.76	0.32466	.	0.214037	0.37437	U	0.002089	T	0.03959	0.0111	L	0.42245	1.32	0.31116	N	0.709375	B;P	0.37423	0.444;0.594	B;B	0.41412	0.356;0.231	T	0.08994	-1.0695	10	0.18710	T	0.47	-9.412	9.3096	0.37895	0.0:0.2212:0.7788:0.0	rs16992131;rs16992131	183;178	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	K	178;134	ENSP00000168977:E178K	ENSP00000168977:E178K	E	+	1	0	ITGB1BP3	3893110	1.000000	0.71417	0.005000	0.12908	0.070000	0.16714	4.069000	0.57541	0.585000	0.29608	0.485000	0.47835	GAG	G|0.977;A|0.023	0.023	strong		0.642	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		A	3942110	G	A	3942110	3	1	22	1	0	0	0	0	1	0	0	0	7893	1175	41	2	558	2	ITGB1BP3	19	3942110	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152789	3942110	55186873	9376	14484										
EEF2	1938	hgsc.bcm.edu	37	chr19	3980852	3980852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgtacccatggcagcctcGtcgtccgggggcccctcgta	12	17	0	0	rs140573073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:3980852G>A	ENST00000309311.6	-	8	1225	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	379					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGCCTCGTCGTCCGGGG	0.652													G|||	14	0.00279553	0.0106	0.0	5008	,	,		15721	0.0		0.0	False		,,,				2504	0.0				p.D379D	Colon(165;1804 1908 4071 6587 18799)	Atlas-SNP	.											.	EEF2	57	.	0			c.C1137T						PASS	.	G		39,4347		0,39,2154	13	11	12		1137	-7.7	0.6	19	dbSNP_134	12	0,8556		0,0,4278	no	coding-synonymous	EEF2	NM_001961.3		0,39,6432	AA,AG,GG		0.0,0.8892,0.3013		379/859	3980852	39,12903	2193	4278	6471	SO:0001819	synonymous_variant	1938	exon8			AGCCTCGTCGTCC	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1137C>T	19.37:g.3980852G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_001961	B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	CCDS12117.1																																																																																			G|0.997;A|0.003	0.003	strong		0.652	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		A	3980852	G	A	3980852	2	1	22	1	0	0	0	0	0	0	0	1	4929	1136	40	1		1	EEF2	19	3980852	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38742	3980852	55148131	9377	14485										
PIAS4	51588	hgsc.bcm.edu	37	chr19	4012971	4012971	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcagatgctcctgggtttCgtgggccggagtaagagtgg	16	8	1	2	rs61729790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4012971C>T	ENST00000262971.2	+	2	193	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	26	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGGTTTCGTGGGCCGGA	0.562													c|||	507	0.101238	0.3699	0.0245	5008	,	,		15489	0.0		0.001	False		,,,				2504	0.0				p.F26F		Atlas-SNP	.											.	PIAS4	40	.	0			c.C78T						PASS	.	T		1226,3180	424.2+/-340.4	166,894,1143	115	110	112		78	-8.9	0.1	19	dbSNP_129	112	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous	PIAS4	NM_015897.2		166,905,5432	TT,TC,CC		0.1279,27.8257,9.511		26/511	4012971	1237,11769	2203	4300	6503	SO:0001819	synonymous_variant	51588	exon2			GGGTTTCGTGGGC	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.78C>T	19.37:g.4012971C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	163	163	1	NM_015897	O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	CCDS12118.1																																																																																			C|0.910;T|0.090	0.090	strong		0.562	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		T	4012971	C	T	4012971	2	4	22	1	0	0	0	0	0	0	0	1	11878	883	31	1		1	PIAS4	19	4012971	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32119	4012971	55116012	9378	14486										
MAP2K2	5605	hgsc.bcm.edu	37	chr19	4110552	4110552	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccgtcactgtagaaggcCccgtagaagcccacgatgta	10	14	1	2	rs10424722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4110552C>G	ENST00000262948.5	-	3	658	c.405G>C	c.(403-405)ggG>ggC	p.G135G	MAP2K2_ENST00000394867.4_Silent_p.G38G|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TGTAGAAGGCCCCGTAGAAGC	0.602													C|||	239	0.0477236	0.1755	0.0101	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.0				p.G135G		Atlas-SNP	.											.	MAP2K2	72	.	0			c.G405C						PASS	.	C		628,3778	272.8+/-271.0	51,526,1626	87	74	79		405	-3.6	1	19	dbSNP_119	79	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	MAP2K2	NM_030662.3		51,531,5921	GG,GC,CC		0.0581,14.2533,4.867		135/401	4110552	633,12373	2203	4300	6503	SO:0001819	synonymous_variant	5605	exon3			GAAGGCCCCGTAG	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.405G>C	19.37:g.4110552C>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	56	38	0.678571	NM_030662		Silent	SNP	ENST00000262948.5	37	CCDS12120.1																																																																																			C|0.956;G|0.044	0.044	strong		0.602	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			G	4110552	C	G	4110552	2	3	22	1	0	0	0	0	0	0	0	1	9237	610	22	4		4	MAP2K2	19	4110552	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	97581	4110552	55018431	9379	14487										
CREB3L3	84699	hgsc.bcm.edu	37	chr19	4154910	4154910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagatggcttctgctgcCtgctccatggaccccatcga	9	17	1	1	rs35474881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4154910C>T	ENST00000078445.2	+	2	189	c.42C>T	c.(40-42)gcC>gcT	p.A14A	CREB3L3_ENST00000252587.3_Silent_p.A5A|CREB3L3_ENST00000602147.1_Silent_p.A14A|CREB3L3_ENST00000595923.1_Silent_p.A14A|CREB3L3_ENST00000602257.1_Silent_p.A14A	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	14					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTGCTGCCTGCTCCATGG	0.622													C|||	429	0.0856629	0.0855	0.0821	5008	,	,		18561	0.0308		0.1431	False		,,,				2504	0.0859				p.A14A		Atlas-SNP	.											CREB3L3,NS,carcinoma,+1,2	CREB3L3	53	2	0			c.C42T						PASS	.	C		403,4003	199.4+/-223.0	24,355,1824	96	79	85		42	0.7	0	19	dbSNP_126	85	1175,7425	239.0+/-270.3	90,995,3215	no	coding-synonymous	CREB3L3	NM_032607.1		114,1350,5039	TT,TC,CC		13.6628,9.1466,12.1329		14/462	4154910	1578,11428	2203	4300	6503	SO:0001819	synonymous_variant	84699	exon2			TGCTGCCTGCTCC		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.42C>T	19.37:g.4154910C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	164	91	0.554878	NM_001271997	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	CCDS12121.1																																																																																			C|0.881;T|0.119	0.119	strong		0.622	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4154910	C	T	4154910	2	4	22	1	0	0	0	0	0	0	0	1	3858	668	24	2		2	CREB3L3	19	4154910	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44358	4154910	54974073	9380	14488										
CREB3L3	84699	hgsc.bcm.edu	37	chr19	4171825	4171825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaacctgaccaattcgacGgaggagctggacaacgccac	12	13	0	1	rs115268777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4171825G>A	ENST00000078445.2	+	10	1392	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	CREB3L3_ENST00000602257.1_Silent_p.T413T|CREB3L3_ENST00000595923.1_Silent_p.T414T|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000252587.3_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	415					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAATTCGACGGAGGAGCTGG	0.672													G|||	52	0.0103834	0.0393	0.0	5008	,	,		16107	0.0		0.0	False		,,,				2504	0.0				p.T415T		Atlas-SNP	.											.	CREB3L3	53	.	0			c.G1245A						PASS	.	G		158,4248	104.3+/-142.8	3,152,2048	37	41	40		1245	-4.7	0	19	dbSNP_132	40	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	CREB3L3	NM_032607.1		3,153,6342	AA,AG,GG		0.0116,3.586,1.2235		415/462	4171825	159,12837	2203	4295	6498	SO:0001819	synonymous_variant	84699	exon10			TTCGACGGAGGAG		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1245G>A	19.37:g.4171825G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	125	68	0.544	NM_032607	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	CCDS12121.1																																																																																			G|0.988;A|0.012	0.012	strong		0.672	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		A	4171825	G	A	4171825	2	1	22	1	0	0	0	0	0	0	0	1	3858	1103	39	1		1	CREB3L3	19	4171825	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16915	4171825	54957158	9381	14489										
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4216829	4216829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccagaaaccaaagttaacGgagccgagaccatagatgag	10	10	0	4	rs61738959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4216829G>A	ENST00000600132.1	+	18	1948	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	ANKRD24_ENST00000262970.5_Missense_Mutation_p.G648R|ANKRD24_ENST00000318934.4_Missense_Mutation_p.G558R	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	558										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAAGTTAACGGAGCCGAGAC	0.592													G|||	102	0.0203674	0.0749	0.0043	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0				p.G558R		Atlas-SNP	.											.	ANKRD24	180	.	0			c.G1672A						PASS	.	G	ARG/GLY	191,3851		8,175,1838	19	21	21		1672	3.5	0	19	dbSNP_129	21	4,8382		0,4,4189	yes	missense	ANKRD24	NM_133475.1	125	8,179,6027	AA,AG,GG		0.0477,4.7254,1.569	probably-damaging	558/1147	4216829	195,12233	2021	4193	6214	SO:0001583	missense	170961	exon18			GTTAACGGAGCCG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1672G>A	19.37:g.4216829G>A	ENSP00000471252:p.Gly558Arg	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	29	14	0.482759	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	36	0.016483516483516484	35	0.07113821138211382	1	0.0027624309392265192	0	0.0	0	0.0	g	17.79	3.476233	0.63737	0.047254	4.77E-4	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.39406	1.08;1.12	3.54	3.54	0.40534	.	0.251067	0.20840	N	0.084734	T	0.04998	0.0134	L	0.29908	0.895	0.26508	N	0.974647	D;D	0.67145	0.993;0.996	P;P	0.62089	0.794;0.898	T	0.01834	-1.1264	10	0.15952	T	0.53	-12.2673	12.9066	0.58156	0.0:0.0:1.0:0.0	rs61738959	558;648	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	R	558;648	ENSP00000321731:G558R;ENSP00000262970:G648R	ENSP00000262970:G648R	G	+	1	0	ANKRD24	4167829	0.332000	0.24722	0.008000	0.14137	0.088000	0.18126	0.933000	0.28897	2.288000	0.76882	0.313000	0.20887	GGA	G|0.982;A|0.018	0.018	strong		0.592	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		A	4216829	G	A	4216829	3	1	22	1	0	0	0	0	1	0	0	0	653	1117	39	1	1738	1	ANKRD24	19	4216829	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45004	4216829	54912154	9382	14490										
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4216931	4216931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccacgggagctgaggccAcaggagccaaggtcacagaa	15	11	1	2	rs61741405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4216931A>G	ENST00000600132.1	+	18	2050	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	ANKRD24_ENST00000262970.5_Missense_Mutation_p.T682A|ANKRD24_ENST00000318934.4_Missense_Mutation_p.T592A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	592										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCTGAGGCCACAGGAGCCAA	0.562													A|||	46	0.0091853	0.0325	0.0043	5008	,	,		19640	0.0		0.0	False		,,,				2504	0.0				p.T592A		Atlas-SNP	.											.	ANKRD24	180	.	0			c.A1774G						PASS	.	A	ALA/THR	159,3919		5,149,1885	31	36	35		1774	-6.7	0	19	dbSNP_129	35	1,8381		0,1,4190	yes	missense	ANKRD24	NM_133475.1	58	5,150,6075	GG,GA,AA		0.0119,3.899,1.2841	benign	592/1147	4216931	160,12300	2039	4191	6230	SO:0001583	missense	170961	exon18			GAGGCCACAGGAG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1774A>G	19.37:g.4216931A>G	ENSP00000471252:p.Thr592Ala	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	28	16	0.571429	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	a	2.619	-0.288978	0.05605	0.03899	1.19E-4	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.33216	1.47;1.42	3.39	-6.68	0.01778	.	2.468300	0.02265	N	0.067899	T	0.02455	0.0075	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.10086	-1.0645	10	0.21540	T	0.41	3.2671	5.3297	0.15926	0.5536:0.0:0.1925:0.2539	rs61741405	592;682	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	A	592;682	ENSP00000321731:T592A;ENSP00000262970:T682A	ENSP00000262970:T682A	T	+	1	0	ANKRD24	4167931	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.277000	0.08502	-0.988000	0.03489	0.172000	0.16884	ACA	A|0.987;G|0.013	0.013	strong		0.562	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4216931	A	G	4216931	3	3	22	1	0	0	0	0	1	0	0	0	653	159	6	2	1840	2	ANKRD24	19	4216931	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	102	4216931	54912052	9383	14491										
EBI3	10148	hgsc.bcm.edu	37	chr19	4236996	4236996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccccgagccaggtactacGtccaagtggcggctcaggac	14	14	1	0	rs4740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4236996G>A	ENST00000221847.5	+	5	654	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> I (in dbSNP:rs4740). {ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTACTACGTCCAAGTGGC	0.607													g|||	2246	0.448482	0.6233	0.2738	5008	,	,		15690	0.4415		0.3052	False		,,,				2504	0.4908				p.V201I		Atlas-SNP	.											.	EBI3	15	.	0			c.G601A						PASS	.	G	ILE/VAL	2572,1834	633.1+/-396.0	752,1068,383	54	54	54		601	-8.9	0	19	dbSNP_52	54	2456,6144	401.9+/-347.3	368,1720,2212	yes	missense	EBI3	NM_005755.2	29	1120,2788,2595	AA,AG,GG		28.5581,41.6251,38.6591	benign	201/230	4236996	5028,7978	2203	4300	6503	SO:0001583	missense	10148	exon5			TACTACGTCCAAG	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.601G>A	19.37:g.4236996G>A	ENSP00000221847:p.Val201Ile	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	95	95	1	NM_005755	A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	CCDS12123.1	889	0.40705128205128205	297	0.6036585365853658	100	0.27624309392265195	254	0.44405594405594406	238	0.31398416886543534	G	2.664	-0.279141	0.05642	0.583749	0.285581	ENSG00000105246	ENST00000221847	T	0.59083	0.29	5.41	-8.95	0.00765	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.720518	0.13155	N	0.409544	T	0.00012	0.0000	N	0.10664	0.02	0.80722	P	0.0	B	0.21753	0.06	B	0.18871	0.023	T	0.29822	-0.9999	9	0.20046	T	0.44	-22.3909	20.4741	0.99163	0.1443:0.0:0.8557:0.0	rs4740;rs82395;rs710083;rs3170371;rs3888633;rs17764870;rs57865374;rs4740	201	Q14213	IL27B_HUMAN	I	201	ENSP00000221847:V201I	ENSP00000221847:V201I	V	+	1	0	EBI3	4187996	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.447000	0.02396	-2.080000	0.00870	-1.223000	0.01593	GTC	A|0.399;C|0.003	0.399	strong		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			A	4236996	G	A	4236996	3	1	22	1	0	0	0	0	1	0	0	0	4883	1145	40	1	619	1	EBI3	19	4236996	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20065	4236996	54891987	9384	14492										
EBI3	10148	hgsc.bcm.edu	37	chr19	4237067	4237067	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctccccgccactgccacAatgagcctgggcaagtagca	10	15	1	1	rs4905	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4237067A>G	ENST00000221847.5	+	5	725	c.672A>G	c.(670-672)acA>acG	p.T224T		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	224	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGCCACAATGAGCCTGG	0.657													G|||	2308	0.460863	0.6679	0.2767	5008	,	,		15560	0.4435		0.3052	False		,,,				2504	0.4898				p.T224T		Atlas-SNP	.											.	EBI3	15	.	0			c.A672G						PASS	.	G		2725,1681	481.7+/-359.2	844,1037,322	40	40	40		672	-7.3	0	19	dbSNP_52	40	2457,6143	665.9+/-402.3	372,1713,2215	no	coding-synonymous	EBI3	NM_005755.2		1216,2750,2537	GG,GA,AA		28.5698,38.1525,39.8431		224/230	4237067	5182,7824	2203	4300	6503	SO:0001819	synonymous_variant	10148	exon5			TGCCACAATGAGC	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.672A>G	19.37:g.4237067A>G		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_005755	A0N0N2|O75269	Silent	SNP	ENST00000221847.5	37	CCDS12123.1																																																																																			A|0.585;G|0.415	0.415	strong		0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			G	4237067	A	G	4237067	2	3	22	1	0	0	0	0	0	0	0	1	4883	117	5	2		2	EBI3	19	4237067	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71	4237067	54891916	9385	14493										
CCDC94	55702	hgsc.bcm.edu	37	chr19	4251069	4251069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacaaggggaagaaattcaaTgctcggaaggagacggtgca	14	6	1	2	rs1045750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4251069T>C	ENST00000262962.7	+	3	239	c.171T>C	c.(169-171)aaT>aaC	p.N57N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	57								p.N57N(1)		NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAAATTCAATGCTCGGAAGG	0.567													C|||	2385	0.476238	0.7262	0.2795	5008	,	,		18805	0.4464		0.3022	False		,,,				2504	0.4877				p.N57N		Atlas-SNP	.											CCDC94,NS,carcinoma,0,1	CCDC94	28	1	1	Substitution - coding silent(1)	stomach(1)	c.T171C						PASS	.	C		2936,1470	472.4+/-356.4	974,988,241	124	121	122		171	-2	0.5	19	dbSNP_86	122	2458,6142	697.2+/-404.9	374,1710,2216	no	coding-synonymous	CCDC94	NM_018074.4		1348,2698,2457	CC,CT,TT		28.5814,33.3636,41.4732		57/324	4251069	5394,7612	2203	4300	6503	SO:0001819	synonymous_variant	55702	exon3			ATTCAATGCTCGG	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.171T>C	19.37:g.4251069T>C		Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	155	155	1	NM_018074	O75270|Q9H862|Q9NW16	Silent	SNP	ENST00000262962.7	37	CCDS12124.1																																																																																			T|0.563;C|0.437	0.437	strong		0.567	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		C	4251069	T	C	4251069	2	2	22	1	0	0	0	0	0	0	0	1	2873	1461	51	2		2	CCDC94	19	4251069	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14002	4251069	54877914	9386	14494										
CCDC94	55702	hgsc.bcm.edu	37	chr19	4254375	4254375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctgaaaacacagactaCaccatggagcatggagccac	9	13	0	2	rs11085068	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4254375C>T	ENST00000262962.7	+	4	362	c.294C>T	c.(292-294)taC>taT	p.Y98Y		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	98								p.Y98Y(1)		NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		ACACAGACTACACCATGGAGC	0.547													C|||	2092	0.417732	0.5083	0.2695	5008	,	,		19031	0.4435		0.3091	False		,,,				2504	0.4857				p.Y98Y		Atlas-SNP	.											CCDC94,NS,carcinoma,0,1	CCDC94	28	1	1	Substitution - coding silent(1)	stomach(1)	c.C294T						PASS	.			2162,2244	583.2+/-385.8	528,1106,569	117	105	109		294	3.1	1	19	dbSNP_120	109	2482,6118	407.3+/-349.1	381,1720,2199	no	coding-synonymous	CCDC94	NM_018074.4		909,2826,2768	TT,TC,CC		28.8605,49.0695,35.7066		98/324	4254375	4644,8362	2203	4300	6503	SO:0001819	synonymous_variant	55702	exon4			AGACTACACCATG	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.294C>T	19.37:g.4254375C>T		Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_018074	O75270|Q9H862|Q9NW16	Silent	SNP	ENST00000262962.7	37	CCDS12124.1																																																																																			C|0.632;T|0.368	0.368	strong		0.547	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		T	4254375	C	T	4254375	2	4	22	1	0	0	0	0	0	0	0	1	2873	489	17	2		2	CCDC94	19	4254375	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3306	4254375	54874608	9387	14495										
SHD	56961	hgsc.bcm.edu	37	chr19	4288332	4288332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgcggctcagtgagaccaAcccccaggactgctccttgt	11	14	1	1	rs888930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4288332A>G	ENST00000543264.2	+	5	2272	c.809A>G	c.(808-810)aAc>aGc	p.N270S	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	270	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		N -> S (in dbSNP:rs888930). {ECO:0000269|PubMed:14702039}.					p.N270S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGAGACCAACCCCCAGGAC	0.582													G|||	2424	0.484026	0.6203	0.5591	5008	,	,		18076	0.3393		0.3787	False		,,,				2504	0.5041				p.N270S		Atlas-SNP	.											SHD,NS,carcinoma,0,3	SHD	33	3	1	Substitution - Missense(1)	stomach(1)	c.A809G						PASS	.	G	SER/ASN	2534,1872	537.6+/-374.8	745,1044,414	78	66	70		809	4	1	19	dbSNP_86	70	3154,5446	653.7+/-401.1	567,2020,1713	yes	missense	SHD	NM_020209.3	46	1312,3064,2127	GG,GA,AA		36.6744,42.4875,43.7337	benign	270/341	4288332	5688,7318	2203	4300	6503	SO:0001583	missense	56961	exon5			AGACCAACCCCCA	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.809A>G	19.37:g.4288332A>G	ENSP00000446058:p.Asn270Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	60	22	0.366667	NM_020209	Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	1011	0.46291208791208793	331	0.6727642276422764	197	0.5441988950276243	198	0.34615384615384615	285	0.3759894459102902	G	7.008	0.556285	0.13436	0.575125	0.366744	ENSG00000105251	ENST00000543264;ENST00000221852	D	0.88046	-2.33	5.02	3.99	0.46301	SH2 motif (4);	0.262943	0.40554	N	0.001075	T	0.00012	0.0000	N	0.02181	-0.65	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.41752	-0.9491	9	0.02654	T	1	-4.3447	9.4055	0.38460	0.1725:0.0:0.8275:0.0	rs888930;rs1043817;rs3170373;rs52826654;rs59490546;rs888930	270	Q96IW2	SHD_HUMAN	S	270;185	ENSP00000446058:N270S	ENSP00000221852:N185S	N	+	2	0	SHD	4239332	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.276000	0.65580	0.738000	0.32606	-0.222000	0.12452	AAC	A|0.552;G|0.446	0.446	strong		0.582	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		G	4288332	A	G	4288332	3	3	22	1	0	0	0	0	1	0	0	0	14275	43	2	2	827	2	SHD	19	4288332	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33957	4288332	54840651	9388	14496										
TMIGD2	126259	hgsc.bcm.edu	37	chr19	4292597	4292597	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggtctcctgggatctctCactcctctcccactttgggg	10	14	4	1	rs888932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4292597C>T	ENST00000301272.2	-	5	893	c.848G>A	c.(847-849)tGa>tAa	p.*283*	TMIGD2_ENST00000600349.1_Silent_p.*111*|TMIGD2_ENST00000600114.1_Silent_p.*163*|TMIGD2_ENST00000595645.1_Silent_p.*279*	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	0					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGATCTCTCACTCCTCTCC	0.617													T|||	2306	0.460463	0.7905	0.3818	5008	,	,		14645	0.3552		0.2803	False		,,,				2504	0.364				p.X283X		Atlas-SNP	.											.	TMIGD2	38	.	0			c.G848A						PASS	.	T	,	3084,1322	444.7+/-347.4	1086,912,205	94	106	102		836,848	-3.6	0	19	dbSNP_86	102	2376,6224	700.7+/-405.2	370,1636,2294	no	coding-synonymous,coding-synonymous	TMIGD2	NM_001169126.1,NM_144615.2	,	1456,2548,2499	TT,TC,CC		27.6279,30.0045,41.9806	,	279/279,283/283	4292597	5460,7546	2203	4300	6503	SO:0001819	synonymous_variant	126259	exon5			ATCTCTCACTCCT	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.848G>A	19.37:g.4292597C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_144615	Q6UW59	Silent	SNP	ENST00000301272.2	37	CCDS12126.1																																																																																			C|0.569;T|0.431	0.431	strong		0.617	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		T	4292597	C	T	4292597	2	4	22	1	0	0	0	0	0	0	0	1	16228	837	29	2		2	TMIGD2	19	4292597	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4265	4292597	54836386	9389	14497										
STAP2	55620	hgsc.bcm.edu	37	chr19	4325433	4325433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctgggccatctccaatGggggtcacgtagttctcttc	11	12	3	0	rs1138253	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4325433G>A	ENST00000594605.1	-	10	1062	c.939C>T	c.(937-939)ccC>ccT	p.P313P	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000600324.1_Silent_p.P313P	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	313	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTCCAATGGGGGTCACGT	0.597													g|||	2604	0.519968	0.5764	0.4957	5008	,	,		16092	0.6339		0.4294	False		,,,				2504	0.4366				p.P313P		Atlas-SNP	.											.	STAP2	38	.	0			c.C939T						PASS	.		,	2436,1970	619.3+/-393.3	674,1088,441	104	104	104		939,939	4.8	1	19	dbSNP_86	104	3855,4745	542.0+/-384.1	876,2103,1321	no	coding-synonymous,coding-synonymous	STAP2	NM_001013841.1,NM_017720.2	,	1550,3191,1762	AA,AG,GG		44.8256,44.7118,48.37	,	313/404,313/450	4325433	6291,6715	2203	4300	6503	SO:0001819	synonymous_variant	55620	exon10			TCCAATGGGGGTC	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.939C>T	19.37:g.4325433G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	121	58	0.479339	NM_001013841	A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	CCDS45926.1																																																																																			G|0.493;N|0.001	.	strong		0.597	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		A	4325433	G	A	4325433	2	1	22	1	0	0	0	0	0	0	0	1	15252	1335	47	2		2	STAP2	19	4325433	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32836	4325433	54803550	9390	14498										
STAP2	55620	hgsc.bcm.edu	37	chr19	4333711	4333711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgaacttgatctcctgatCccggagaatcaggctgaagt	10	10	2	5	rs7247504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4333711C>T	ENST00000594605.1	-	3	400	c.277G>A	c.(277-279)Gat>Aat	p.D93N	STAP2_ENST00000600324.1_Missense_Mutation_p.D93N	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	93	PH.		D -> N (in dbSNP:rs7247504). {ECO:0000269|PubMed:10980601, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCTGATCCCGGAGAATC	0.552													N|||	3283	0.655551	0.7814	0.5965	5008	,	,		17191	0.7044		0.5507	False		,,,				2504	0.5849				p.D93N		Atlas-SNP	.											.	STAP2	38	.	0			c.G277A						PASS	.		ASN/ASP,ASN/ASP	3256,1150	406.2+/-333.8	1221,814,168	70	66	67		277,277	-1.8	0.1	19	dbSNP_116	67	4666,3934	547.7+/-385.2	1279,2108,913	yes	missense,missense	STAP2	NM_001013841.1,NM_017720.2	23,23	2500,2922,1081	TT,TC,CC		45.7442,26.1008,39.0897	benign,benign	93/404,93/450	4333711	7922,5084	2203	4300	6503	SO:0001583	missense	55620	exon3			CCTGATCCCGGAG	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.277G>A	19.37:g.4333711C>T	ENSP00000471052:p.Asp93Asn	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	69	26	0.376812	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	1402	0.641941391941392	383	0.7784552845528455	211	0.5828729281767956	406	0.7097902097902098	402	0.5303430079155673	T	0.006	-2.022811	0.00414	0.738992	0.542558	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.02	-1.78	0.07957	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.631198	0.16064	N	0.231325	T	0.00012	0.0000	N	0.01789	-0.72	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28332	-1.0047	8	0.87932	D	0	-2.1795	7.2493	0.26140	0.0:0.479:0.1394:0.3816	rs7247504;rs17855353;rs7247504	93;93	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	N	93	.	ENSP00000317912:D93N	D	-	1	0	STAP2	4284711	0.018000	0.18449	0.077000	0.20336	0.041000	0.13682	-0.077000	0.11394	-0.599000	0.05798	-1.302000	0.01329	GAT	C|0.373;T|0.627	0.627	strong		0.552	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		T	4333711	C	T	4333711	3	4	22	1	0	0	0	0	1	0	0	0	15252	855	30	2	1116	2	STAP2	19	4333711	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8278	4333711	54795272	9391	14499										
UBXN6	80700	hgsc.bcm.edu	37	chr19	4446164	4446164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccggacgaacccgtacaccGcccccagccgctcccgagcg	10	22	0	0	rs34179017	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4446164G>A	ENST00000301281.6	-	10	1206	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.A308V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	361	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCGTACACCGCCCCCAGCCG	0.711													G|||	32	0.00638978	0.0242	0.0	5008	,	,		14161	0.0		0.0	False		,,,				2504	0.0				p.A361V		Atlas-SNP	.											.	UBXN6	27	.	0			c.C1082T						PASS	.	G	VAL/ALA,VAL/ALA	76,4324		1,74,2125	15	19	18		923,1082	-1.2	0	19	dbSNP_126	18	0,8590		0,0,4295	yes	missense,missense	UBXN6	NM_001171091.1,NM_025241.2	64,64	1,74,6420	AA,AG,GG		0.0,1.7273,0.5851	benign,benign	308/389,361/442	4446164	76,12914	2200	4295	6495	SO:0001583	missense	80700	exon10			TACACCGCCCCCA	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1082C>T	19.37:g.4446164G>A	ENSP00000301281:p.Ala361Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_025241	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	CCDS12129.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	5.191	0.220842	0.09863	0.017273	0.0	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.44881	0.91;0.91	5.15	-1.23	0.09465	UBX (3);	0.540957	0.20913	N	0.083423	T	0.14399	0.0348	L	0.48260	1.515	0.09310	N	0.999999	B;B	0.23540	0.047;0.087	B;B	0.22880	0.013;0.042	T	0.10019	-1.0648	10	0.25106	T	0.35	-7.5495	4.4434	0.11586	0.2944:0.0:0.4642:0.2414	rs34179017;rs34179017	308;361	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	361;308	ENSP00000301281:A361V;ENSP00000378246:A308V	ENSP00000301281:A361V	A	-	2	0	UBXN6	4397164	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.189000	0.17037	-0.230000	0.09840	0.561000	0.74099	GCG	G|0.992;A|0.008	0.008	strong		0.711	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		A	4446164	G	A	4446164	3	1	22	1	0	0	0	0	1	0	0	0	16914	1087	38	1	251	1	UBXN6	19	4446164	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112453	4446164	54682819	9392	14500										
HDGFRP2	84717	hgsc.bcm.edu	37	chr19	4488718	4488718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccgaggccaaccccgccGacggcagtgacgctgacgag	13	18	0	2	rs147061912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4488718G>A	ENST00000301284.4	+	4	398	c.334G>A	c.(334-336)Gac>Aac	p.D112N	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D112N	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		112					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CAACCCCGCCGACGGCAGTGA	0.677													G|||	37	0.00738818	0.028	0.0	5008	,	,		14427	0.0		0.0	False		,,,				2504	0.0				p.D112N		Atlas-SNP	.											.	.	.	.	0			c.G334A						PASS	.	G	ASN/ASP,ASN/ASP	96,4038		1,94,1972	11	15	13		334,334	2.5	0	19	dbSNP_134	13	0,8302		0,0,4151	yes	missense,missense	HDGFRP2	NM_032631.2,NM_001001520.1	23,23	1,94,6123	AA,AG,GG		0.0,2.3222,0.772	benign,benign	112/676,112/677	4488718	96,12340	2067	4151	6218	SO:0001583	missense	0	exon4			CCCGCCGACGGCA																												ENST00000301284.4:c.334G>A	19.37:g.4488718G>A	ENSP00000301284:p.Asp112Asn	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	28	16	0.571429	NM_032631	I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	CCDS42472.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	4.364	0.067010	0.08388	0.023222	0.0	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.46451	0.87	4.86	2.5	0.30297	.	0.387710	0.23889	N	0.043579	T	0.10852	0.0265	L	0.38175	1.15	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.08229	-1.0732	10	0.21014	T	0.42	.	8.9678	0.35887	0.0:0.1609:0.6729:0.1662	.	112;112	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	N	112;98	ENSP00000301284:D112N	ENSP00000301284:D112N	D	+	1	0	AC011498.1	4439718	0.052000	0.20516	0.003000	0.11579	0.006000	0.05464	2.427000	0.44740	1.143000	0.42306	0.555000	0.69702	GAC	G|0.994;A|0.006	0.006	strong		0.677	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			A	4488718	G	A	4488718	3	1	22	1	0	0	0	0	1	0	0	0	7020	1058	37	1	348	1	HDGFRP2	19	4488718	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42554	4488718	54640265	9393	14501										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4508905	4508905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaggtcacctaaacgaaCgaagtagctcccctgttccg	8	15	1	0	rs77763884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4508905C>T	ENST00000301286.3	-	4	3534	c.3535G>A	c.(3535-3537)Gtt>Att	p.V1179I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1179						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						CCTAAACGAACGAAGTAGCTC	0.652													C|||	176	0.0351438	0.0794	0.0144	5008	,	,		15863	0.0		0.0129	False		,,,				2504	0.0491				p.V1179I		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.G3535A						PASS	.	C	ILE/VAL	281,3785		9,263,1761	40	50	46		3535	1.8	0	19	dbSNP_131	46	125,8221		1,123,4049	yes	missense	PLIN4	NM_001080400.1	29	10,386,5810	TT,TC,CC		1.4977,6.911,3.271	possibly-damaging	1179/1358	4508905	406,12006	2033	4173	6206	SO:0001583	missense	729359	exon4			AACGAACGAAGTA	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.3535G>A	19.37:g.4508905C>T	ENSP00000301286:p.Val1179Ile	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	50	0.022893772893772892	38	0.07723577235772358	4	0.011049723756906077	0	0.0	8	0.010554089709762533	C	10.25	1.298940	0.23650	0.06911	0.014977	ENSG00000167676	ENST00000301286	T	0.22539	1.95	5.11	1.78	0.24846	.	0.365586	0.19456	N	0.113801	T	0.00845	0.0028	L	0.49778	1.585	0.09310	N	1	P	0.47409	0.895	B	0.42692	0.395	T	0.10405	-1.0631	10	0.22706	T	0.39	-16.8474	7.0052	0.24831	0.0:0.7005:0.0:0.2995	.	1179	Q96Q06	PLIN4_HUMAN	I	1179	ENSP00000301286:V1179I	ENSP00000301286:V1179I	V	-	1	0	PLIN4	4459905	0.919000	0.31177	0.002000	0.10522	0.005000	0.04900	1.756000	0.38390	0.165000	0.19558	-0.300000	0.09419	GTT	C|0.979;T|0.021	0.021	strong		0.652	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4508905	C	T	4508905	3	4	22	1	0	0	0	0	1	0	0	0	12092	536	19	1	550	1	PLIN4	19	4508905	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20187	4508905	54620078	9394	14502			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4508960	4508960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccaggctgggaggcagcCagctgagctggaaaggaagg	19	9	0	1	rs112037560	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4508960C>T	ENST00000301286.3	-	4	3479	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1160						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						GGGAGGCAGCCAGCTGAGCTG	0.642													C|||	207	0.0413339	0.1021	0.0159	5008	,	,		16148	0.0		0.0129	False		,,,				2504	0.0491				p.L1160L		Atlas-SNP	.											.	PLIN4	191	.	0			c.G3480A						PASS	.	C		356,3550		17,322,1614	26	30	29		3480	2.9	1	19	dbSNP_132	29	122,8142		1,120,4011	no	coding-synonymous	PLIN4	NM_001080400.1		18,442,5625	TT,TC,CC		1.4763,9.1142,3.9277		1160/1358	4508960	478,11692	1953	4132	6085	SO:0001819	synonymous_variant	729359	exon4			GGCAGCCAGCTGA	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.3480G>A	19.37:g.4508960C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	43	26	0.604651	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			C|0.974;T|0.026	0.026	strong		0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4508960	C	T	4508960	2	4	22	1	0	0	0	0	0	0	0	1	12092	581	21	2		2	PLIN4	19	4508960	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55	4508960	54620023	9395	14503			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4510850	4510850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtgtgggtggcccctgtcGccacgttccctgaccccatg	12	16	0	1	rs145519622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4510850G>A	ENST00000301286.3	-	3	3079	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1027						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						GGCCCCTGTCGCCACGTTCCC	0.647													G|||	60	0.0119808	0.0303	0.0086	5008	,	,		18497	0.0		0.0129	False		,,,				2504	0.001				p.A1027V		Atlas-SNP	.											.	PLIN4	191	.	0			c.C3080T						PASS	.		VAL/ALA	115,4157		3,109,2024	70	79	76		3080	3.5	0	19	dbSNP_134	76	93,8415		1,91,4162	yes	missense	PLIN4	NM_001080400.1	64	4,200,6186	AA,AG,GG		1.0931,2.6919,1.6275	benign	1027/1358	4510850	208,12572	2136	4254	6390	SO:0001583	missense	729359	exon3			CCTGTCGCCACGT	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.3080C>T	19.37:g.4510850G>A	ENSP00000301286:p.Ala1027Val	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	24	0.01098901098901099	11	0.022357723577235773	4	0.011049723756906077	0	0.0	9	0.011873350923482849	G	12.83	2.056289	0.36277	0.026919	0.010931	ENSG00000167676	ENST00000301286	T	0.09723	2.95	4.56	3.49	0.39957	.	0.000000	0.35970	U	0.002866	T	0.02649	0.0080	L	0.58510	1.815	0.09310	N	1	P	0.39831	0.69	B	0.32533	0.147	T	0.24977	-1.0145	10	0.14252	T	0.57	-30.7309	8.97	0.35901	0.1077:0.0:0.8923:0.0	.	1027	Q96Q06	PLIN4_HUMAN	V	1027	ENSP00000301286:A1027V	ENSP00000301286:A1027V	A	-	2	0	PLIN4	4461850	0.287000	0.24315	0.009000	0.14445	0.046000	0.14306	1.486000	0.35530	0.892000	0.36259	0.500000	0.49745	GCG	G|0.988;A|0.012	0.012	strong		0.647	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4510850	G	A	4510850	3	1	22	1	0	0	0	0	1	0	0	0	12092	1087	38	1	1009	1	PLIN4	19	4510850	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1890	4510850	54618133	9396	14504			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511746	4511746	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatggcccctttggccacAttcgcagcaccggtcacccc	10	17	1	0	rs62115192		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4511746A>T	ENST00000301286.3	-	3	2183	c.2184T>A	c.(2182-2184)aaT>aaA	p.N728K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	728	27 X 33 AA approximate tandem repeat.					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						CTTTGGCCACATTCGCAGCAC	0.577																																					p.N728K		Atlas-SNP	.											.	PLIN4	191	.	0			c.T2184A						PASS	.						148	134	138					19																	4511746		2024	4170	6194	SO:0001583	missense	729359	exon3			GGCCACATTCGCA	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.2184T>A	19.37:g.4511746A>T	ENSP00000301286:p.Asn728Lys	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	433	52	0.120092	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	a	14.30	2.495348	0.44352	.	.	ENSG00000167676	ENST00000301286	T	0.05382	3.45	4.56	-9.13	0.00704	.	0.915443	0.08968	N	0.867615	T	0.13415	0.0325	M	0.82323	2.585	0.80722	P	0.0	P	0.52316	0.952	P	0.53649	0.731	T	0.00557	-1.1672	9	0.36615	T	0.2	-4.9999	8.1871	0.31346	0.2655:0.0976:0.541:0.0959	rs62115192	728	Q96Q06	PLIN4_HUMAN	K	728	ENSP00000301286:N728K	ENSP00000301286:N728K	N	-	3	2	PLIN4	4462746	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.931000	0.00169	-2.908000	0.00309	-1.193000	0.01689	AAT	A|0.333;T|0.667	0.667	strong		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511746	A	T	4511746	3	4	22	1	0	0	0	0	1	0	0	0	12092	214	8	5	1905	5	PLIN4	19	4511746	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	896	4511746	54617237	9397	14505			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511757	4511757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggccacattcgcagcacCggtcaccccactgcagacgg	10	16	1	1	rs74627313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4511757C>T	ENST00000301286.3	-	3	2172	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	725	27 X 33 AA approximate tandem repeat.					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						TTCGCAGCACCGGTCACCCCA	0.587													C|||	268	0.0535144	0.1914	0.0159	5008	,	,		29873	0.002		0.002	False		,,,				2504	0.0				p.G725S		Atlas-SNP	.											.	PLIN4	191	.	0			c.G2173A						PASS	.	C	SER/GLY	582,3526		2,578,1474	169	161	164		2173	0.9	0	19	dbSNP_131	164	6,8366		0,6,4180	no	missense	PLIN4	NM_001080400.1	56	2,584,5654	TT,TC,CC		0.0717,14.1675,4.7115	benign	725/1358	4511757	588,11892	2054	4186	6240	SO:0001583	missense	729359	exon3			CAGCACCGGTCAC	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.2173G>A	19.37:g.4511757C>T	ENSP00000301286:p.Gly725Ser	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	455	108	0.237363	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	91	0.041666666666666664	83	0.16869918699186992	3	0.008287292817679558	2	0.0034965034965034965	3	0.00395778364116095	C	9.531	1.110845	0.20714	0.141675	7.17E-4	ENSG00000167676	ENST00000301286	T	0.06849	3.25	4.26	0.951	0.19579	.	0.000000	0.43579	U	0.000560	T	0.00039	0.0001	M	0.71206	2.165	0.09310	N	1	D	0.61080	0.989	B	0.43155	0.41	T	0.37267	-0.9713	10	0.52906	T	0.07	-19.0077	8.739	0.34545	0.0:0.7398:0.0:0.2602	.	725	Q96Q06	PLIN4_HUMAN	S	725	ENSP00000301286:G725S	ENSP00000301286:G725S	G	-	1	0	PLIN4	4462757	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.818000	0.04467	0.799000	0.34018	-0.974000	0.02594	GGT	C|0.967;T|0.033	0.033	strong		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511757	C	T	4511757	3	4	22	1	0	0	0	0	1	0	0	0	12092	652	23	1	1916	1	PLIN4	19	4511757	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11	4511757	54617226	9398	14506			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511791	4511791	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacggtgtccttggtaccAgttaggacagtcttggtggt	14	8	1	1	rs62115193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4511791A>C	ENST00000301286.3	-	3	2138	c.2139T>G	c.(2137-2139)acT>acG	p.T713T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	713	27 X 33 AA approximate tandem repeat.					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						CCTTGGTACCAGTTAGGACAG	0.592													a|||	1546	0.308706	0.3782	0.3487	5008	,	,		39118	0.256		0.3052	False		,,,				2504	0.2444				p.T713T		Atlas-SNP	.											.	PLIN4	191	.	0			c.T2139G						PASS	.						241	254	249					19																	4511791		2116	4227	6343	SO:0001819	synonymous_variant	729359	exon3			GGTACCAGTTAGG	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.2139T>G	19.37:g.4511791A>C		Somatic	443	0	0		WXS	Illumina HiSeq	Phase_I	505	84	0.166337	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			A|0.500;C|0.500	0.500	strong		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		C	4511791	A	C	4511791	2	2	22	1	0	0	0	0	0	0	0	1	12092	175	7	5		5	PLIN4	19	4511791	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34	4511791	54617192	9399	14507			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511913	4511913	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcacggtcttggccgtgtCtacacctgtctgggcagccc	12	15	3	0	rs199927982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4511913C>T	ENST00000301286.3	-	3	2016	c.2017G>A	c.(2017-2019)Gac>Aac	p.D673N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	673	27 X 33 AA approximate tandem repeat.					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						TTGGCCGTGTCTACACCTGTC	0.567													C|||	52	0.0103834	0.0386	0.0014	5008	,	,		29014	0.0		0.0	False		,,,				2504	0.0				p.D673N		Atlas-SNP	.											.	PLIN4	191	.	0			c.G2017A						PASS	.	G	ASN/ASP	151,4073		4,143,1965	139	148	145		2017	3	0.3	19	dbSNP_132	145	0,8444		0,0,4222	yes	missense	PLIN4	NM_001080400.1	23	4,143,6187	TT,TC,CC		0.0,3.5748,1.192	probably-damaging	673/1358	4511913	151,12517	2112	4222	6334	SO:0001583	missense	729359	exon3			CCGTGTCTACACC	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.2017G>A	19.37:g.4511913C>T	ENSP00000301286:p.Asp673Asn	Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	359	137	0.381616	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	27	0.012362637362637362	27	0.054878048780487805	0	0.0	0	0.0	0	0.0	C	13.17	2.155782	0.38021	0.035748	0.0	ENSG00000167676	ENST00000301286	T	0.11063	2.81	5.14	3.0	0.34707	.	0.287773	0.24191	U	0.040720	T	0.02970	0.0088	M	0.85197	2.74	0.20926	N	0.999825	P	0.49961	0.93	P	0.47044	0.535	T	0.04811	-1.0925	10	0.46703	T	0.11	-25.9696	7.1023	0.25344	0.0:0.6943:0.1443:0.1613	.	673	Q96Q06	PLIN4_HUMAN	N	673	ENSP00000301286:D673N	ENSP00000301286:D673N	D	-	1	0	PLIN4	4462913	0.000000	0.05858	0.349000	0.25694	0.008000	0.06430	-0.258000	0.08733	0.567000	0.29293	-0.757000	0.03467	GAC	C|0.988;T|0.012	0.012	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511913	C	T	4511913	3	4	22	1	0	0	0	0	1	0	0	0	12092	913	32	2	2072	2	PLIN4	19	4511913	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122	4511913	54617070	9400	14508			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511944	4511944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcagcccctttggccacAttcacagcactggtcacccc	9	17	2	0	rs143131726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4511944A>G	ENST00000301286.3	-	3	1985	c.1986T>C	c.(1984-1986)aaT>aaC	p.N662N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	662	27 X 33 AA approximate tandem repeat.					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						CTTTGGCCACATTCACAGCAC	0.577													A|||	40	0.00798722	0.0303	0.0	5008	,	,		25673	0.0		0.0	False		,,,				2504	0.0				p.N662N		Atlas-SNP	.											.	PLIN4	191	.	0			c.T1986C						PASS	.	A		115,4007		6,103,1952	96	106	103		1986	-10.3	0	19	dbSNP_134	103	1,8383		0,1,4191	no	coding-synonymous	PLIN4	NM_001080400.1		6,104,6143	GG,GA,AA		0.0119,2.7899,0.9276		662/1358	4511944	116,12390	2061	4192	6253	SO:0001819	synonymous_variant	729359	exon3			GGCCACATTCACA	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.1986T>C	19.37:g.4511944A>G		Somatic	321	0	0		WXS	Illumina HiSeq	Phase_I	306	134	0.437909	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			A|0.994;G|0.006	0.006	strong		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511944	A	G	4511944	2	3	22	1	0	0	0	0	0	0	0	1	12092	214	8	2		2	PLIN4	19	4511944	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31	4511944	54617039	9401	14509			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512534	4512534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctggacggcccctttggCcacattcgcagcaccggtga	12	16	0	1	rs61730732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512534C>T	ENST00000301286.3	-	3	1395	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	466	27 X 33 AA approximate tandem repeat.					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						GCCCCTTTGGCCACATTCGCA	0.597													C|||	45	0.00898562	0.0333	0.0014	5008	,	,		22756	0.0		0.0	False		,,,				2504	0.0				p.A466T		Atlas-SNP	.											.	PLIN4	191	.	0			c.G1396A						PASS	.	C	THR/ALA	146,3788		3,140,1824	114	122	119		1396	5	1	19	dbSNP_129	119	0,8308		0,0,4154	yes	missense	PLIN4	NM_001080400.1	58	3,140,5978	TT,TC,CC		0.0,3.7112,1.1926	possibly-damaging	466/1358	4512534	146,12096	1967	4154	6121	SO:0001583	missense	729359	exon3			CTTTGGCCACATT	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.1396G>A	19.37:g.4512534C>T	ENSP00000301286:p.Ala466Thr	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	227	100	0.440529	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	C	17.51	3.406822	0.62399	0.037112	0.0	ENSG00000167676	ENST00000301286	T	0.09350	2.99	4.99	4.99	0.66335	.	0.000000	0.52532	D	0.000078	T	0.08670	0.0215	M	0.86573	2.825	0.34738	D	0.730428	D	0.61080	0.989	P	0.56474	0.799	T	0.37619	-0.9698	10	0.30854	T	0.27	-55.3504	15.8081	0.78531	0.0:1.0:0.0:0.0	.	466	Q96Q06	PLIN4_HUMAN	T	466	ENSP00000301286:A466T	ENSP00000301286:A466T	A	-	1	0	PLIN4	4463534	0.165000	0.22948	0.996000	0.52242	0.008000	0.06430	1.816000	0.38992	2.342000	0.79632	0.549000	0.68633	GCC	C|0.991;T|0.009	0.009	strong		0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512534	C	T	4512534	3	4	22	1	0	0	0	0	1	0	0	0	12092	739	26	2	2693	2	PLIN4	19	4512534	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	590	4512534	54616449	9402	14510			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512637	4512637	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatggttcctctggccaaAttcatggcaccagtcacccc					rs57042059|rs386806138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512637A>G	ENST00000301286.3	-	3	1292	c.1293T>C	c.(1291-1293)aaT>aaC	p.N431N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	431	27 X 33 AA approximate tandem repeat.					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						CTCTGGCCAAATTCATGGCAC	0.552													a|||	834	0.166534	0.559	0.049	5008	,	,		20317	0.0		0.0139	False		,,,				2504	0.0481				p.N431N		Atlas-SNP	.											PLIN4_ENST00000301286,colon,carcinoma,-2,2	PLIN4	191	2	0			c.T1293C						PASS	.	G		2072,1966		663,746,610	121	147	139		1293	-6.8	0	19	dbSNP_129	139	154,8212		11,132,4040	no	coding-synonymous	PLIN4	NM_001080400.1		674,878,4650	GG,GA,AA		1.8408,48.6875,17.9458		431/1358	4512637	2226,10178	2019	4183	6202	SO:0001819	synonymous_variant	729359	exon3			GGCCAAATTCATG	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.1293T>C	19.37:g.4512637A>G		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	189	189	1	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			A|0.864;G|0.136	0.136	strong		0.552	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4512637	A	G	4512637	2	3	22	1	0	0	0	0	0	0	0	1	12092	98	4	2		2	PLIN4	19	4512637	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	103	4512637	54616346	9403	14511	297	2	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512642	4512642	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttcctctggccaaattcaTggcaccagtcaccccactgc					rs60931060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512642T>C	ENST00000301286.3	-	3	1287	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	430	27 X 33 AA approximate tandem repeat.					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						GCCAAATTCATGGCACCAGTC	0.557													t|||	554	0.110623	0.354	0.036	5008	,	,		20240	0.0		0.0139	False		,,,				2504	0.0481				p.M430V		Atlas-SNP	.											PLIN4,NS,carcinoma,+2,1	PLIN4	191	1	0			c.A1288G						scavenged	.	T	VAL/MET	1251,2777		263,725,1026	115	143	134		1288	-1.6	0	19	dbSNP_129	134	147,8219		7,133,4043	yes	missense	PLIN4	NM_001080400.1	21	270,858,5069	CC,CT,TT		1.7571,31.0576,11.2797	benign	430/1358	4512642	1398,10996	2014	4183	6197	SO:0001583	missense	729359	exon3			AATTCATGGCACC	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.1288A>G	19.37:g.4512642T>C	ENSP00000301286:p.Met430Val	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	184	51	0.277174	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	171	0.0782967032967033	157	0.31910569105691056	8	0.022099447513812154	0	0.0	6	0.0079155672823219	t	0.011	-1.723632	0.00694	0.310576	0.017571	ENSG00000167676	ENST00000301286	T	0.02763	4.17	4.56	-1.61	0.08399	.	0.632463	0.14898	N	0.291974	T	0.00012	0.0000	N	0.11154	0.105	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42378	-0.9455	9	0.10377	T	0.69	-6.7095	9.7431	0.40431	0.0:0.4332:0.0:0.5668	rs60931060	430	Q96Q06	PLIN4_HUMAN	V	430	ENSP00000301286:M430V	ENSP00000301286:M430V	M	-	1	0	PLIN4	4463642	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.288000	0.00134	-0.826000	0.04284	-0.782000	0.03352	ATG	T|0.935;C|0.065	0.065	strong		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		C	4512642	T	C	4512642	3	2	22	1	0	0	0	0	1	0	0	0	12092	1464	51	2	2801	2	PLIN4	19	4512642	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	4512642	54616341	9404	14512	297	2	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512661	4512661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcaccagtcaccccactGcagacggtgtcctttgtacc	9	15	1	1	rs58830758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512661G>A	ENST00000301286.3	-	3	1268	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	423	27 X 33 AA approximate tandem repeat.					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						TCACCCCACTGCAGACGGTGT	0.557													G|||	863	0.172324	0.5303	0.0663	5008	,	,		19302	0.001		0.0507	False		,,,				2504	0.0654				p.C423C		Atlas-SNP	.											PLIN4_ENST00000301286,caecum,carcinoma,0,2	PLIN4	191	2	0			c.C1269T						scavenged	.	G		1457,2509		459,539,985	94	133	120		1269	0.1	0	19	dbSNP_129	120	204,8150		32,140,4005	no	coding-synonymous	PLIN4	NM_001080400.1		491,679,4990	AA,AG,GG		2.4419,36.7373,13.4821		423/1358	4512661	1661,10659	1983	4177	6160	SO:0001819	synonymous_variant	729359	exon3			CCCACTGCAGACG	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.1269C>T	19.37:g.4512661G>A		Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	163	32	0.196319	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			G|0.927;A|0.073	0.073	strong		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4512661	G	A	4512661	2	1	22	1	0	0	0	0	0	0	0	1	12092	1311	46	2		2	PLIN4	19	4512661	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19	4512661	54616322	9405	14513			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512676	4512676	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactgcagacggtgtccttTgtacctgttgcgatattttg	10	10	0	1	rs59593546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512676T>G	ENST00000301286.3	-	3	1253	c.1254A>C	c.(1252-1254)acA>acC	p.T418T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	418	27 X 33 AA approximate tandem repeat.					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						CGGTGTCCTTTGTACCTGTTG	0.552													G|||	667	0.133187	0.4138	0.0331	5008	,	,		18918	0.001		0.0149	False		,,,				2504	0.0828				p.T418T		Atlas-SNP	.											.	PLIN4	191	.	0			c.A1254C						PASS	.	T		904,2990		362,180,1405	85	127	114		1254	-8.2	0	19	dbSNP_129	114	78,8286		20,38,4124	no	coding-synonymous	PLIN4	NM_001080400.1		382,218,5529	GG,GT,TT		0.9326,23.2152,8.0111		418/1358	4512676	982,11276	1947	4182	6129	SO:0001819	synonymous_variant	729359	exon3			GTCCTTTGTACCT	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.1254A>C	19.37:g.4512676T>G		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	148	12	0.0810811	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			T|0.939;G|0.061	0.061	strong		0.552	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4512676	T	G	4512676	2	3	22	1	0	0	0	0	0	0	0	1	12092	1799	63	5		5	PLIN4	19	4512676	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15	4512676	54616307	9406	14514			32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512933	4512933	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggatggttcctttggccaCattcatggcaccagtcaccc					rs200149931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512933C>A	ENST00000301286.3	-	3	996	c.997G>T	c.(997-999)Gtg>Ttg	p.V333L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	333	27 X 33 AA approximate tandem repeat.					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						CCTTTGGCCACATTCATGGCA	0.567													c|||	558	0.111422	0.357	0.0403	5008	,	,		19414	0.0		0.0129	False		,,,				2504	0.046				p.V333L		Atlas-SNP	.											.	PLIN4	191	.	0			c.G997T						PASS	.						43	56	52					19																	4512933		1884	4141	6025	SO:0001583	missense	729359	exon3			TGGCCACATTCAT	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.997G>T	19.37:g.4512933C>A	ENSP00000301286:p.Val333Leu	Somatic	372	1	0.00268817		WXS	Illumina HiSeq	Phase_I	245	66	0.269388	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	12.09	1.832474	0.32421	.	.	ENSG00000167676	ENST00000301286	T	0.04654	3.58	4.59	-1.78	0.07957	.	0.731989	0.12146	N	0.495324	T	0.06462	0.0166	M	0.76838	2.35	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33240	-0.9876	10	0.41790	T	0.15	-13.7794	4.0634	0.09849	0.1545:0.4657:0.0:0.3798	.	333	Q96Q06	PLIN4_HUMAN	L	333	ENSP00000301286:V333L	ENSP00000301286:V333L	V	-	1	0	PLIN4	4463933	.	.	0.007000	0.13788	0.002000	0.02628	.	.	-0.231000	0.09825	0.462000	0.41574	GTG	C|0.989;A|0.011	0.011	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4512933	C	A	4512933	3	1	22	1	0	0	0	0	1	0	0	0	12092	478	17	4	3092	4	PLIN4	19	4512933	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	257	4512933	54616050	9407	14515	298	4	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512934	4512934	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatggttcctttggccacAttcatggcaccagtcacccc					rs199854884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512934A>G	ENST00000301286.3	-	3	995	c.996T>C	c.(994-996)aaT>aaC	p.N332N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	332	27 X 33 AA approximate tandem repeat.					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						CTTTGGCCACATTCATGGCAC	0.567													G|||	552	0.110224	0.3525	0.0403	5008	,	,		19461	0.0		0.0129	False		,,,				2504	0.046				p.N332N		Atlas-SNP	.											.	PLIN4	191	.	0			c.T996C						PASS	.						43	55	51					19																	4512934		1883	4139	6022	SO:0001819	synonymous_variant	729359	exon3			GGCCACATTCATG	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.996T>C	19.37:g.4512934A>G		Somatic	377	0	0		WXS	Illumina HiSeq	Phase_I	250	70	0.28	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			A|0.989;G|0.011	0.011	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4512934	A	G	4512934	2	3	22	1	0	0	0	0	0	0	0	1	12092	214	8	2		2	PLIN4	19	4512934	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	4512934	54616049	9408	14516	298	4	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512939	4512939	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttcctttggccacattcaTggcaccagtcaccccactac					rs201080851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512939T>C	ENST00000301286.3	-	3	990	c.991A>G	c.(991-993)Atg>Gtg	p.M331V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	331	27 X 33 AA approximate tandem repeat.					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						GCCACATTCATGGCACCAGTC	0.567													C|||	571	0.114018	0.3555	0.0418	5008	,	,		19316	0.0139		0.0129	False		,,,				2504	0.046				p.M331V		Atlas-SNP	.											.	PLIN4	191	.	0			c.A991G						PASS	.						41	48	46					19																	4512939		1878	4128	6006	SO:0001583	missense	729359	exon3			CATTCATGGCACC	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.991A>G	19.37:g.4512939T>C	ENSP00000301286:p.Met331Val	Somatic	381	0	0		WXS	Illumina HiSeq	Phase_I	260	78	0.3	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330526	0.01298	.	.	ENSG00000167676	ENST00000301286	T	0.04317	3.65	4.59	-7.01	0.01594	.	1.024380	0.07776	N	0.952612	T	0.02571	0.0078	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	10	0.11794	T	0.64	-2.0373	9.6981	0.40169	0.0:0.4781:0.1:0.422	.	331	Q96Q06	PLIN4_HUMAN	V	331	ENSP00000301286:M331V	ENSP00000301286:M331V	M	-	1	0	PLIN4	4463939	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.790000	0.00098	-2.169000	0.00777	-0.355000	0.07637	ATG	T|0.984;C|0.016	0.016	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		C	4512939	T	C	4512939	3	2	22	1	0	0	0	0	1	0	0	0	12092	1464	51	2	3098	2	PLIN4	19	4512939	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	4512939	54616044	9409	14517	298	4	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN4	729359	hgsc.bcm.edu	37	chr19	4512945	4512945	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggccacattcatggcacCagtcaccccactacagacgg					rs75031432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4512945C>T	ENST00000301286.3	-	3	984	c.985G>A	c.(985-987)Ggt>Agt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					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						TTCATGGCACCAGTCACCCCA	0.567													C|||	840	0.167732	0.4539	0.1037	5008	,	,		18994	0.0119		0.0934	False		,,,				2504	0.0634				p.G329S		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.G985A						scavenged	.						39	40	39					19																	4512945		1862	4105	5967	SO:0001583	missense	729359	exon3			TGGCACCAGTCAC	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.985G>A	19.37:g.4512945C>T	ENSP00000301286:p.Gly329Ser	Somatic	386	3	0.00777202		WXS	Illumina HiSeq	Phase_I	266	10	0.037594	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776204	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.13901	2.55	4.53	1.21	0.21127	.	0.420915	0.19796	N	0.105865	T	0.13543	0.0328	L	0.46157	1.445	0.80722	P	0.0	D	0.54397	0.966	P	0.45794	0.493	T	0.19353	-1.0308	9	0.87932	D	0	-15.096	7.3812	0.26856	0.0:0.7112:0.0:0.2888	rs56366613	329	Q96Q06	PLIN4_HUMAN	S	329	ENSP00000301286:G329S	ENSP00000301286:G329S	G	-	1	0	PLIN4	4463945	0.091000	0.21658	0.003000	0.11579	0.001000	0.01503	0.810000	0.27183	0.906000	0.36621	0.407000	0.27541	GGT	C|0.826;T|0.174	0.174	strong		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512945	C	T	4512945	3	4	22	1	0	0	0	0	1	0	0	0	12092	594	21	2	3104	2	PLIN4	19	4512945	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	4512945	54616038	9410	14518	298	4	32	61	2430417	17	13	4041	N	T_G_C_A	4.425036e-08
PLIN5	440503	hgsc.bcm.edu	37	chr19	4529255	4529257	+	In_Frame_Del	DEL	GAG	GAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccaccacgtccttggctGaggtcaccacctggaaggaa					rs140507757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4529255_4529257delGAG	ENST00000381848.3	-	5	428_430	c.348_350delCTC	c.(346-351)acctca>aca	p.S117del	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCACCT	0.67														54	0.0107827	0.0401	0.0014	5008	,	,		14860	0.0		0.0	False		,,,				2504	0.0				p.117_117del		Pindel,Atlas-Indel	.											.	PLIN5	27	.	0			c.349_351del						PASS	.			141,3831		9,123,1854						-7.4	1		dbSNP_134	48	0,8030		0,0,4015	no	coding	PLIN5	NM_001013706.2		9,123,5869	A1A1,A1R,RR		0.0,3.5498,1.1748				141,11861				SO:0001651	inframe_deletion	440503	exon5			.	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.348_350delCTC	19.37:g.4529255_4529257delGAG	ENSP00000371272:p.Ser117del	Somatic	143	.	.		WXS	Illumina HiSeq	Phase_I	118	36	0.305	NM_001013706	A2RRC1|Q6ZS68	In_Frame_Del	DEL	ENST00000381848.3	37	CCDS42473.1																																																																																			GAG|0.986;-|0.014	0.014	strong		0.67	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		-	4529257	GAG	-	4529255	7	5	22	1	0	1	0	1	0	0	0	0	12093	1294	45	0	1057	0	PLIN5	19	4529255	In_Frame_Del	DEL	GAG	TCGA-G8-6324-01A-11D-2210-10	16310	4529255	54599728	9411	14519										
SEMA6B	10501	hgsc.bcm.edu	37	chr19	4558422	4558422	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgccccccagtagcagcagCagaagcagcagggccgggcg	16	15	0	1	rs115168835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4558422C>A	ENST00000586582.1	-	2	358	c.48G>T	c.(46-48)ctG>ctT	p.L16L	SEMA6B_ENST00000586965.1_Silent_p.L16L|SEMA6B_ENST00000301293.3_Silent_p.L16L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGCAGCAGCAGAAGCAGCA	0.736											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	94	0.01877	0.0696	0.0029	5008	,	,		9644	0.0		0.0	False		,,,				2504	0.0				p.L16L		Atlas-SNP	.											.	SEMA6B	51	.	0			c.G48T						PASS	.	C		155,3605		0,155,1725	3	5	4		48	2.6	1	19	dbSNP_132	4	1,7703		0,1,3851	no	coding-synonymous	SEMA6B	NM_032108.3		0,156,5576	AA,AC,CC		0.013,4.1223,1.3608		16/889	4558422	156,11308	1880	3852	5732	SO:0001819	synonymous_variant	10501	exon2			CAGCAGCAGAAGC	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.48G>T	19.37:g.4558422C>A		Somatic	17	0	0	619	WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_032108	A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	CCDS12131.1																																																																																			C|0.985;A|0.015	0.015	strong		0.736	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		A	4558422	C	A	4558422	2	1	22	1	0	0	0	0	0	0	0	1	14040	697	25	4		4	SEMA6B	19	4558422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29167	4558422	54570561	9412	14520										
C19orf10	56005	hgsc.bcm.edu	37	chr19	4658047	4658047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgcgatgccttggccacAatcaccagcttggacagctc	11	14	1	0	rs12683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:4658047A>G	ENST00000262947.3	-	6	527	c.492T>C	c.(490-492)atT>atC	p.I164I	AC005339.2_ENST00000598070.1_RNA	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.I164I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		CCTTGGCCACAATCACCAGCT	0.562													A|||	830	0.165735	0.4357	0.0375	5008	,	,		17774	0.1369		0.0318	False		,,,				2504	0.0593				p.I164I		Atlas-SNP	.											C19orf10,NS,lymphoid_neoplasm,0,1	C19orf10	9	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.T492C						PASS	.	A		1660,2746	481.9+/-359.3	305,1050,848	54	48	50		492	-7.4	1	19	dbSNP_52	50	194,8406	82.3+/-144.9	2,190,4108	no	coding-synonymous	C19orf10	NM_019107.3		307,1240,4956	GG,GA,AA		2.2558,37.6759,14.255		164/174	4658047	1854,11152	2203	4300	6503	SO:0001819	synonymous_variant	56005	exon6			GGCCACAATCACC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.492T>C	19.37:g.4658047A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	60	28	0.466667	NM_019107	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Silent	SNP	ENST00000262947.3	37	CCDS12133.1																																																																																			T|0.000;G|0.142;N|0.001;A|0.857	0.142	strong		0.562	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4658047	A	G	4658047	2	3	22	1	0	0	0	0	0	0	0	1	1908	126	5	2		2	C19orf10	19	4658047	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	99625	4658047	54470936	9413	14521										
PTPRS	5802	hgsc.bcm.edu	37	chr19	5210762	5210762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccacagcatgcgccagaaGtcttccgtggtctccgccag	10	16	2	1	rs1143699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5210762G>A	ENST00000587303.1	-	33	5388	c.5289C>T	c.(5287-5289)gaC>gaT	p.D1763D	PTPRS_ENST00000262963.6_Silent_p.D1743D|PTPRS_ENST00000372412.4_Silent_p.D1764D|PTPRS_ENST00000348075.2_Silent_p.D1725D|PTPRS_ENST00000353284.2_Silent_p.D1316D|PTPRS_ENST00000592099.1_Silent_p.D1316D|PTPRS_ENST00000588012.1_Silent_p.D1725D|PTPRS_ENST00000357368.4_Silent_p.D1763D|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1763	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCGCCAGAAGTCTTCCGTGG	0.662													G|||	504	0.100639	0.2216	0.0807	5008	,	,		18976	0.0		0.0994	False		,,,				2504	0.0562				p.D1763D		Atlas-SNP	.											.	PTPRS	169	.	0			c.C5289T						PASS	.	G	,,,	819,3587	325.0+/-298.9	87,645,1471	98	77	84		5289,3948,5175,3960	-2.7	1	19	dbSNP_86	84	875,7725	197.5+/-242.1	46,783,3471	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	133,1428,4942	AA,AG,GG		10.1744,18.5883,13.0248	,,,	1763/1949,1316/1502,1725/1911,1320/1506	5210762	1694,11312	2203	4300	6503	SO:0001819	synonymous_variant	5802	exon34			CCAGAAGTCTTCC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5289C>T	19.37:g.5210762G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	125	63	0.504	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																			G|0.874;A|0.126	0.126	strong		0.662	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5210762	G	A	5210762	2	1	22	1	0	0	0	0	0	0	0	1	12811	1020	36	2		2	PTPRS	19	5210762	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	552715	5210762	53918221	9414	14522										
PTPRS	5802	hgsc.bcm.edu	37	chr19	5212380	5212380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatggggccggcatctggCgggttgcaggtcttgactct	16	10	3	1	rs1064300	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5212380C>T	ENST00000587303.1	-	30	4836	c.4737G>A	c.(4735-4737)ccG>ccA	p.P1579P	PTPRS_ENST00000353284.2_Silent_p.P1132P|PTPRS_ENST00000588012.1_Silent_p.P1541P|PTPRS_ENST00000592099.1_Silent_p.P1132P|PTPRS_ENST00000348075.2_Silent_p.P1541P|PTPRS_ENST00000372412.4_Silent_p.P1580P|PTPRS_ENST00000262963.6_Silent_p.P1559P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.P1579P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1579	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGGCATCTGGCGGGTTGCAGG	0.672													C|||	1590	0.317492	0.4372	0.415	5008	,	,		16131	0.0556		0.3469	False		,,,				2504	0.3262				p.P1579P		Atlas-SNP	.											.	PTPRS	169	.	0			c.G4737A						PASS	.	C	,,,	1662,2738		324,1014,862	61	44	50		4737,3396,4623,3408	-1.2	1	19	dbSNP_86	50	2824,5774		484,1856,1959	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	808,2870,2821	TT,TC,CC		32.8448,37.7727,34.513	,,,	1579/1949,1132/1502,1541/1911,1136/1506	5212380	4486,8512	2200	4299	6499	SO:0001819	synonymous_variant	5802	exon31			ATCTGGCGGGTTG	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4737G>A	19.37:g.5212380C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	118	47	0.398305	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																			C|0.669;T|0.331	0.331	strong		0.672	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			T	5212380	C	T	5212380	2	4	22	1	0	0	0	0	0	0	0	1	12811	755	27	1		1	PTPRS	19	5212380	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1618	5212380	53916603	9415	14523										
PRR22	163154	hgsc.bcm.edu	37	chr19	5783712	5783712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggggggtgggggtggcagCggggccgggccttcctctag	22	9	1	0	rs2446211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5783712C>T	ENST00000419421.2	-	3	650	c.546G>A	c.(544-546)ccG>ccA	p.P182P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	182	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGGTGGCAGCGGGGCCGGGC	0.716													c|||	1687	0.336861	0.4228	0.1931	5008	,	,		8488	0.5456		0.165	False		,,,				2504	0.2843				p.P182P		Atlas-SNP	.											PRR22_ENST00000419421,NS,carcinoma,0,2	PRR22	25	2	0			c.G546A						PASS	.	T		1038,2702		151,736,983	3	5	4		546	-5.2	0	19	dbSNP_100	4	1020,6676		80,860,2908	no	coding-synonymous	PRR22	NM_001134316.1		231,1596,3891	TT,TC,CC		13.2536,27.754,17.9958		182/423	5783712	2058,9378	1870	3848	5718	SO:0001819	synonymous_variant	163154	exon3			TGGCAGCGGGGCC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.546G>A	19.37:g.5783712C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_001134316	E9PB31	Silent	SNP	ENST00000419421.2	37	CCDS45933.1																																																																																			C|0.689;T|0.311	0.311	strong		0.716	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		T	5783712	C	T	5783712	2	4	22	1	0	0	0	0	0	0	0	1	12593	755	27	1		1	PRR22	19	5783712	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	571332	5783712	53345271	9416	14524										
PRR22	163154	hgsc.bcm.edu	37	chr19	5783905	5783905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccttgaggtagggctgaGgctccaggaggtagctgcct	18	9	0	2	rs3745640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5783905G>A	ENST00000419421.2	-	3	457	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	118	Pro-rich.		P -> L (in dbSNP:rs3745640).							endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GTAGGGCTGAGGCTCCAGGAG	0.706													G|||	1540	0.307508	0.3147	0.1859	5008	,	,		10380	0.5437		0.165	False		,,,				2504	0.2873				p.P118L		Atlas-SNP	.											.	PRR22	25	.	0			c.C353T						PASS	.	G	LEU/PRO	990,3048		90,810,1119	4	6	5		353	4.5	0.4	19	dbSNP_107	5	1119,7019		66,987,3016	yes	missense	PRR22	NM_001134316.1	98	156,1797,4135	AA,AG,GG		13.7503,24.5171,17.321	possibly-damaging	118/423	5783905	2109,10067	2019	4069	6088	SO:0001583	missense	163154	exon3			GGCTGAGGCTCCA	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.353C>T	19.37:g.5783905G>A	ENSP00000407653:p.Pro118Leu	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	44	20	0.454545	NM_001134316	E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	CCDS45933.1	638	0.29212454212454214	154	0.3130081300813008	75	0.20718232044198895	282	0.493006993006993	127	0.16754617414248021	G	19.20	3.782414	0.70222	0.245171	0.137503	ENSG00000212123	ENST00000419421	T	0.45668	0.89	4.51	4.51	0.55191	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.28455	P	0.9161476	P;D	0.57571	0.944;0.98	P;P	0.51806	0.548;0.68	T	0.48790	-0.9004	8	0.72032	D	0.01	-9.3203	14.7247	0.69336	0.0:0.0:1.0:0.0	rs3745640;rs3745640	118;116	E9PB31;Q8IZ63	.;PRR22_HUMAN	L	118	ENSP00000407653:P118L	ENSP00000407653:P118L	P	-	2	0	PRR22	5734905	0.736000	0.28164	0.388000	0.26195	0.756000	0.42949	5.938000	0.70170	2.338000	0.79540	0.436000	0.28706	CCT	G|0.702;A|0.298	0.298	strong		0.706	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		A	5783905	G	A	5783905	3	1	22	1	0	0	0	0	1	0	0	0	12593	1000	35	2	919	2	PRR22	19	5783905	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	193	5783905	53345078	9417	14525										
DUS3L	56931	hgsc.bcm.edu	37	chr19	5789565	5789565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggttctgtccctcgggccTcaggtgggccccagcgaagc	14	15	2	0	rs2436487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5789565T>C	ENST00000309061.7	-	3	649	c.553A>G	c.(553-555)Agg>Ggg	p.R185G	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	185			R -> G (in dbSNP:rs2436487). {ECO:0000269|PubMed:15489334}.				flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCCTCGGGCCTCAGGTGGGCC	0.721													C|||	2304	0.460064	0.8177	0.2349	5008	,	,		13189	0.5496		0.1948	False		,,,				2504	0.317				p.R185G		Atlas-SNP	.											DUS3L,NS,carcinoma,0,1	DUS3L	42	1	0			c.A553G						PASS	.	C	,GLY/ARG	2891,1425		1024,843,291	7	12	10		,553	4.5	0.9	19	dbSNP_100	10	1496,6988		140,1216,2886	no	intron,missense	DUS3L	NM_001161619.1,NM_020175.2	,125	1164,2059,3177	CC,CT,TT		17.6332,33.0167,34.2734	,benign	,185/651	5789565	4387,8413	2158	4242	6400	SO:0001583	missense	56931	exon3			CGGGCCTCAGGTG		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.553A>G	19.37:g.5789565T>C	ENSP00000311977:p.Arg185Gly	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	14	6	0.428571	NM_020175	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	CCDS32880.1	905	0.4143772893772894	385	0.782520325203252	93	0.2569060773480663	281	0.49125874125874125	146	0.19261213720316622	C	0.773	-0.765146	0.02996	0.669833	0.176332	ENSG00000141994	ENST00000309061	T	0.17370	2.28	4.51	4.51	0.55191	Zinc finger, CCCH-type (1);	0.127872	0.53938	N	0.000056	T	0.00012	0.0000	N	0.00864	-1.135	0.51767	P	6.099999999997774E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.17167	-1.0378	9	0.12766	T	0.61	-2.8966	10.5357	0.45002	0.0:0.9026:0.0:0.0974	rs2436487;rs3760777;rs17845247;rs17858066;rs58221162;rs2436487	185	Q96G46	DUS3L_HUMAN	G	185	ENSP00000311977:R185G	ENSP00000311977:R185G	R	-	1	2	DUS3L	5740565	0.996000	0.38824	0.894000	0.35097	0.121000	0.20230	2.069000	0.41481	0.902000	0.36520	-0.320000	0.08662	AGG	T|0.554;C|0.446	0.446	strong		0.721	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		C	5789565	T	C	5789565	3	2	22	1	0	0	0	0	1	0	0	0	4807	1550	54	3	1443	3	DUS3L	19	5789565	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5660	5789565	53339418	9418	14526										
FUT6	2528	hgsc.bcm.edu	37	chr19	5831840	5831840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcggggtgcaaggagttctCgaaggccagatagaacttgt	15	7	1	2	rs17855739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5831840C>T	ENST00000318336.4	-	3	1933	c.739G>A	c.(739-741)Gag>Aag	p.E247K	FUT6_ENST00000286955.5_Missense_Mutation_p.E247K|FUT6_ENST00000527106.1_Missense_Mutation_p.E247K|FUT6_ENST00000524754.1_Missense_Mutation_p.E247K|FUT6_ENST00000592563.1_Missense_Mutation_p.E247K	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	247			E -> K (found in alpha(1,3)- fucosyltransferase-deficient individuals; complete enzyme inactivation; dbSNP:rs17855739). {ECO:0000269|PubMed:11102976, ECO:0000269|PubMed:8175676}.		fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AAGGAGTTCTCGAAGGCCAGA	0.627													C|||	805	0.160743	0.351	0.0461	5008	,	,		17359	0.1319		0.0417	False		,,,				2504	0.137				p.E247K		Atlas-SNP	.											FUT6,NS,carcinoma,+2,1	FUT6	30	1	0			c.G739A	GRCh37	CM940795	FUT6	M	rs17855739	PASS	.	C	LYS/GLU,LYS/GLU	1273,3133	433.5+/-343.6	156,961,1086	88	88	88	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	739,739	2	0.9	19	dbSNP_123	88	389,8207	124.1+/-182.9	12,365,3921	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	56,56	168,1326,5007	TT,TC,CC		4.5254,28.8924,12.7826	benign,benign	247/360,247/360	5831840	1662,11340	2203	4298	6501	SO:0001583	missense	2528	exon3			AGTTCTCGAAGGC		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.739G>A	19.37:g.5831840C>T	ENSP00000313398:p.Glu247Lys	Somatic	375	0	0		WXS	Illumina HiSeq	Phase_I	376	166	0.441489	NM_000150	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	278	0.12728937728937728	190	0.3861788617886179	18	0.049723756906077346	35	0.06118881118881119	35	0.04617414248021108	C	16.35	3.099891	0.56183	0.288924	0.045254	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	3.07	1.97	0.26223	.	0.000000	0.64402	D	0.000016	T	0.00012	0.0000	H	0.99261	4.49	0.27631	P	0.9480265999999999	P;P	0.52170	0.951;0.917	P;P	0.58077	0.832;0.832	T	0.02352	-1.1172	9	0.72032	D	0.01	.	10.1858	0.42998	0.0:0.7931:0.2069:0.0	rs17855739	247;247	C9J8A2;P51993	.;FUT6_HUMAN	K	247	ENSP00000431708:E247K;ENSP00000432954:E247K;ENSP00000313398:E247K;ENSP00000286955:E247K	ENSP00000286955:E247K	E	-	1	0	FUT6	5782840	0.963000	0.33076	0.857000	0.33713	0.070000	0.16714	2.244000	0.43124	0.548000	0.28955	0.430000	0.28490	GAG	C|0.878;T|0.122	0.122	strong		0.627	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		T	5831840	C	T	5831840	3	4	22	1	0	0	0	0	1	0	0	0	6108	893	31	1	344	1	FUT6	19	5831840	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42275	5831840	53297143	9419	14527										
FUT6	2528	hgsc.bcm.edu	37	chr19	5832209	5832209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgcccctgccgcctcgGggagcgtgggagctgggcac	17	15	0	0	rs778805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5832209G>A	ENST00000318336.4	-	3	1564	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	FUT6_ENST00000592563.1_Missense_Mutation_p.P124S|FUT6_ENST00000524754.1_Missense_Mutation_p.P124S|FUT6_ENST00000286955.5_Missense_Mutation_p.P124S|FUT6_ENST00000527106.1_Missense_Mutation_p.P124S	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	124			P -> S (found in alpha(1,3)- fucosyltransferase-deficient individuals; results in partial enzyme inactivation; complete enzyme inactivation when associated with V-244 and G-303; dbSNP:rs778805). {ECO:0000269|PubMed:11102976, ECO:0000269|Ref.4}.		fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCGCCTCGGGGAGCGTGGG	0.607													G|||	2480	0.495208	0.643	0.4928	5008	,	,		16047	0.6121		0.3131	False		,,,				2504	0.364				p.P124S		Atlas-SNP	.											FUT6,NS,carcinoma,+1,1	FUT6	30	1	0			c.C370T	GRCh37	CM940794	FUT6	M	rs778805	PASS	.	G	SER/PRO,SER/PRO	2612,1794	638.8+/-397.0	766,1080,357	71	60	64		370,370	2.1	0	19	dbSNP_86	64	2849,5751	447.3+/-361.5	453,1943,1904	yes	missense,missense	FUT6	NM_000150.2,NM_001040701.1	74,74	1219,3023,2261	AA,AG,GG		33.1279,40.7172,41.9883	possibly-damaging,possibly-damaging	124/360,124/360	5832209	5461,7545	2203	4300	6503	SO:0001583	missense	2528	exon3			GCCTCGGGGAGCG		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.370C>T	19.37:g.5832209G>A	ENSP00000313398:p.Pro124Ser	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	160	73	0.45625	NM_000150	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	1053	0.48214285714285715	319	0.6483739837398373	168	0.46408839779005523	329	0.5751748251748252	237	0.31266490765171506	G	10.20	1.286073	0.23478	0.592828	0.331279	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	3.17	2.11	0.27256	.	0.206719	0.32970	N	0.005421	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B;B	0.19331	0.035;0.006	B;B	0.29440	0.102;0.063	T	0.32295	-0.9912	9	0.41790	T	0.15	.	12.3946	0.55378	0.0:0.0:0.8278:0.1722	rs778805;rs4041472;rs17205925;rs17855738;rs58152597;rs778805	124;124	C9J8A2;P51993	.;FUT6_HUMAN	S	124	ENSP00000431708:P124S;ENSP00000432954:P124S;ENSP00000313398:P124S;ENSP00000286955:P124S;ENSP00000436547:P124S	ENSP00000286955:P124S	P	-	1	0	FUT6	5783209	0.573000	0.26676	0.000000	0.03702	0.000000	0.00434	1.907000	0.39897	0.145000	0.18977	-2.014000	0.00435	CCG	G|0.555;A|0.445	0.445	strong		0.607	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		A	5832209	G	A	5832209	3	1	22	1	0	0	0	0	1	0	0	0	6108	1232	43	2	713	2	FUT6	19	5832209	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	369	5832209	53296774	9420	14528										
FUT3	2525	hgsc.bcm.edu	37	chr19	5843784	5843784	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggtgaaccaagccgctAtgctgcgcaccgtctggtac	11	14	2	1	rs3894326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5843784A>T	ENST00000303225.6	-	3	1701	c.1067T>A	c.(1066-1068)aTa>aAa	p.I356K	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.I356K|FUT3_ENST00000589918.1_Missense_Mutation_p.I356K|FUT3_ENST00000458379.2_Missense_Mutation_p.I356K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	356			I -> K (in Le(-); less than 10% reduction in activity; dbSNP:rs3894326). {ECO:0000269|PubMed:7961897, ECO:0000269|PubMed:8063716, ECO:0000269|PubMed:8801770}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCAAGCCGCTATGCTGCGCAC	0.642													A|||	482	0.096246	0.0408	0.0504	5008	,	,		17784	0.1478		0.0726	False		,,,				2504	0.1748				p.I356K	Esophageal Squamous(82;745 1728 24593 44831)	Atlas-SNP	.											.	FUT3	30	.	0			c.T1067A	GRCh37	CM940793	FUT3	M	rs3894326	PASS	.	A	LYS/ILE,LYS/ILE,LYS/ILE,LYS/ILE	148,4258	102.1+/-140.7	2,144,2057	58	62	61		1067,1067,1067,1067	2.2	0.2	19	dbSNP_108	61	622,7978	159.1+/-212.4	22,578,3700	no	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	102,102,102,102	24,722,5757	TT,TA,AA		7.2326,3.3591,5.9203	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	356/362,356/362,356/362,356/362	5843784	770,12236	2203	4300	6503	SO:0001583	missense	2525	exon3			GCCGCTATGCTGC		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.1067T>A	19.37:g.5843784A>T	ENSP00000305603:p.Ile356Lys	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	196	91	0.464286	NM_001097640	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	138	0.06318681318681318	23	0.046747967479674794	13	0.03591160220994475	43	0.07517482517482517	59	0.07783641160949868	A	18.27	3.586525	0.66105	0.033591	0.072326	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.26373	1.74;1.74	2.2	2.2	0.27929	.	1.042650	0.07702	U	0.940582	T	0.05960	0.0155	M	0.91818	3.245	0.42393	D	0.992534	D;P;P;P	0.57899	0.981;0.953;0.953;0.953	D;P;P;P	0.65773	0.938;0.864;0.864;0.864	T	0.17592	-1.0364	10	0.72032	D	0.01	.	8.2938	0.31973	1.0:0.0:0.0:0.0	rs3894326	356;356;356;356	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	K	356	ENSP00000305603:I356K;ENSP00000416443:I356K	ENSP00000305603:I356K	I	-	2	0	FUT3	5794784	0.004000	0.15560	0.214000	0.23707	0.450000	0.32258	1.993000	0.40747	0.959000	0.37980	0.163000	0.16589	ATA	A|0.935;T|0.065	0.065	strong		0.642	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		T	5843784	A	T	5843784	3	4	22	1	0	0	0	0	1	0	0	0	6105	449	16	5	22	5	FUT3	19	5843784	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11575	5843784	53285199	9421	14529										
FUT3	2525	hgsc.bcm.edu	37	chr19	5844792	5844792	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccagcagctgaaatagcAgtgcggccagacagcggcgc	13	14	0	2	rs28362459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5844792A>C	ENST00000303225.6	-	3	693	c.59T>G	c.(58-60)cTg>cGg	p.L20R	FUT3_ENST00000458379.2_Missense_Mutation_p.L20R|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.L20R|FUT3_ENST00000589918.1_Missense_Mutation_p.L20R|FUT3_ENST00000593144.1_5'Flank	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	20			L -> R (in Le(-); dbSNP:rs28362459). {ECO:0000269|PubMed:8063716, ECO:0000269|PubMed:8219240, ECO:0000269|PubMed:8240337, ECO:0000269|PubMed:8801770, ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTGAAATAGCAGTGCGGCCAG	0.612													A|||	1266	0.252796	0.3374	0.2709	5008	,	,		15473	0.2956		0.0984	False		,,,				2504	0.2403				p.L20R	Esophageal Squamous(82;745 1728 24593 44831)	Atlas-SNP	.											FUT3,NS,carcinoma,0,1	FUT3	30	1	0			c.T59G	GRCh37	CM930258	FUT3	M	rs28362459	PASS	.	A	ARG/LEU,ARG/LEU,ARG/LEU,ARG/LEU	1244,3162	381.8+/-324.2	181,882,1140	28	26	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	59,59,59,59	2.3	0	19	dbSNP_125	27	846,7754	179.8+/-228.8	43,760,3497	yes	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	102,102,102,102	224,1642,4637	CC,CA,AA		9.8372,28.2342,16.0695	probably-damaging,probably-damaging,probably-damaging,probably-damaging	20/362,20/362,20/362,20/362	5844792	2090,10916	2203	4300	6503	SO:0001583	missense	2525	exon3			AATAGCAGTGCGG		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.59T>G	19.37:g.5844792A>C	ENSP00000305603:p.Leu20Arg	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	223	111	0.497758	NM_001097640	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	457	0.20924908424908426	156	0.3170731707317073	79	0.21823204419889503	141	0.2465034965034965	81	0.10686015831134564	A	15.12	2.738382	0.49045	0.282342	0.098372	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.26810	1.71;1.71	2.33	2.33	0.28932	.	0.909833	0.09089	N	0.850153	T	0.00012	0.0000	M	0.79475	2.455	0.32237	P	0.573249	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70227	0.968;0.968;0.968;0.968	T	0.22034	-1.0228	9	0.29301	T	0.29	.	8.4913	0.33102	1.0:0.0:0.0:0.0	rs28362459;rs60711378	20;20;20;20	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	R	20	ENSP00000305603:L20R;ENSP00000416443:L20R	ENSP00000305603:L20R	L	-	2	0	FUT3	5795792	0.002000	0.14202	0.024000	0.17045	0.030000	0.12068	0.986000	0.29590	1.010000	0.39314	0.172000	0.16884	CTG	A|0.832;C|0.168	0.168	strong		0.612	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		C	5844792	A	C	5844792	3	2	22	1	0	0	0	0	1	0	0	0	6105	188	7	5	1030	5	FUT3	19	5844792	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1008	5844792	53284191	9422	14530										
CAPS	8498	hgsc.bcm.edu	37	chr19	5914605	5914605	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactagaccgggacgggagcAgatccctggacgctgatgag	15	10	0	4	rs7249419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5914605A>G	ENST00000340578.6	-	0	3233				CAPS_ENST00000452990.2_Missense_Mutation_p.R39G|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Missense_Mutation_p.R125G|CAPS_ENST00000222125.5_Missense_Mutation_p.R39G|AC104532.2_ENST00000588891.1_3'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GGACGGGAGCAGATCCCTGGA	0.647													A|||	326	0.0650958	0.1452	0.062	5008	,	,		17171	0.0129		0.003	False		,,,				2504	0.0767				p.R39G		Atlas-SNP	.											.	CAPS	14	.	0			c.A115G						PASS	.	A	GLY/ARG,GLY/ARG	597,3809	259.8+/-263.3	35,527,1641	66	68	67		115,115	0.2	0.5	19	dbSNP_116	67	35,8565	23.4+/-69.3	0,35,4265	yes	missense,missense	CAPS	NM_004058.3,NM_080590.2	125,125	35,562,5906	GG,GA,AA		0.407,13.5497,4.8593	benign,benign	39/190,39/163	5914605	632,12374	2203	4300	6503	SO:0001628	intergenic_variant	828	exon3			GGGAGCAGATCCC	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914605A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_080590	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	83	0.038003663003663	62	0.12601626016260162	14	0.03867403314917127	5	0.008741258741258742	2	0.002638522427440633	A	9.241	1.038301	0.19669	0.135497	0.00407	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.57107	0.79;0.42	5.3	0.24	0.15489	EF-hand-like domain (1);	0.486738	0.19195	N	0.120324	T	0.00241	0.0007	L	0.35723	1.085	0.22918	N	0.998565	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.04635	-1.0937	10	0.06494	T	0.89	-2.5164	7.9602	0.30066	0.3895:0.3881:0.2224:0.0	rs7249419;rs7249419	172;39	Q8NF12;Q13938	.;CAYP1_HUMAN	G	172;39;39	ENSP00000222125:R39G;ENSP00000403263:R39G	ENSP00000222125:R39G	R	+	1	2	CAPS	5865605	0.081000	0.21417	0.537000	0.28052	0.018000	0.09664	-0.059000	0.11731	0.543000	0.28864	0.454000	0.30748	AGA	A|0.954;G|0.046	0.046	strong		0.647	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		G	5914605	A	G	5914605	1	3	22	0	1	0	0	0	0	0	0	0	2637	180	7	3		3	CAPS	19	5914605	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69813	5914605	53214378	9423	14531										
CAPS	8498	hgsc.bcm.edu	37	chr19	5914625	5914625	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatccctggacgctgatgaGttccggcagggtctggccaa	14	11	1	3	rs7248090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:5914625G>A	ENST00000340578.6	-	0	3233				CAPS_ENST00000452990.2_Silent_p.E45E|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Silent_p.E131E|CAPS_ENST00000222125.5_Silent_p.E45E|AC104532.2_ENST00000588891.1_3'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACGCTGATGAGTTCCGGCAGG	0.652													G|||	328	0.0654952	0.1467	0.062	5008	,	,		17780	0.0129		0.003	False		,,,				2504	0.0767				p.E45E		Atlas-SNP	.											.	CAPS	14	.	0			c.G135A						PASS	.	G	,	604,3802	263.1+/-265.3	33,538,1632	72	74	73		135,135	1.9	0.3	19	dbSNP_116	73	35,8565	24.0+/-70.4	0,35,4265	no	coding-synonymous,coding-synonymous	CAPS	NM_004058.3,NM_080590.2	,	33,573,5897	AA,AG,GG		0.407,13.7086,4.9131	,	45/190,45/163	5914625	639,12367	2203	4300	6503	SO:0001628	intergenic_variant	828	exon3			TGATGAGTTCCGG	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914625G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_080590	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	CCDS42478.1																																																																																			G|0.953;A|0.047	0.047	strong		0.652	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		A	5914625	G	A	5914625	1	1	22	0	1	0	0	0	0	0	0	0	2637	1020	36	2		2	CAPS	19	5914625	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	5914625	53214358	9424	14532										
ACER1	125981	hgsc.bcm.edu	37	chr19	6333476	6333476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccacgcactcaccgtgttGtagaactcggccaccagctc	8	17	1	1	rs16993553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6333476G>A	ENST00000301452.4	-	1	164	c.87C>T	c.(85-87)taC>taT	p.Y29Y		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	29					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						TCACCGTGTTGTAGAACTCGG	0.572													G|||	451	0.0900559	0.0393	0.0634	5008	,	,		18511	0.0129		0.0855	False		,,,				2504	0.2618				p.Y29Y		Atlas-SNP	.											ACER1,NS,carcinoma,-2,1	ACER1	38	1	0			c.C87T						PASS	.	G		201,4203		4,193,2005	70	44	53		87	4.9	1	19	dbSNP_123	53	705,7893		37,631,3631	no	coding-synonymous	ACER1	NM_133492.2		41,824,5636	AA,AG,GG		8.1996,4.564,6.9682		29/265	6333476	906,12096	2202	4299	6501	SO:0001819	synonymous_variant	125981	exon1			CGTGTTGTAGAAC	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.87C>T	19.37:g.6333476G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	97	43	0.443299	NM_133492		Silent	SNP	ENST00000301452.4	37	CCDS12161.1																																																																																			G|0.938;A|0.062	0.062	strong		0.572	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		A	6333476	G	A	6333476	2	1	22	1	0	0	0	0	0	0	0	1	138	1372	48	2		2	ACER1	19	6333476	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	418851	6333476	52795507	9425	14533										
ALKBH7	84266	hgsc.bcm.edu	37	chr19	6374229	6374229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaggccatccacggcttcCgagagacagagaagtcgcgc	13	13	0	2	rs116186903	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6374229C>A	ENST00000245812.3	+	2	608	c.220C>A	c.(220-222)Cga>Aga	p.R74R	ALKBH7_ENST00000599849.1_Silent_p.R13R|ALKBH7_ENST00000596657.1_5'UTR	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	74					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCACGGCTTCCGAGAGACAGA	0.657													C|||	33	0.00658946	0.0234	0.0029	5008	,	,		15595	0.0		0.0	False		,,,				2504	0.0				p.R74R		Atlas-SNP	.											.	ALKBH7	18	.	0			c.C220A						PASS	.	C		78,4322		1,76,2123	29	32	31		220	3.6	1	19	dbSNP_132	31	0,8590		0,0,4295	no	coding-synonymous	ALKBH7	NM_032306.3		1,76,6418	AA,AC,CC		0.0,1.7727,0.6005		74/222	6374229	78,12912	2200	4295	6495	SO:0001819	synonymous_variant	84266	exon2			GGCTTCCGAGAGA	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"Alkylation repair homologs"	21306	protein-coding gene	gene with protein product		613305	"spermatogenesis associated 11"	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.220C>A	19.37:g.6374229C>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	67	43	0.641791	NM_032306	B2R4U9|Q53FF3	Silent	SNP	ENST00000245812.3	37	CCDS12163.1																																																																																			C|0.994;A|0.006	0.006	strong		0.657	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		A	6374229	C	A	6374229	2	1	22	1	0	0	0	0	0	0	0	1	532	644	23	4		4	ALKBH7	19	6374229	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40753	6374229	52754754	9426	14534										
SLC25A23	79085	hgsc.bcm.edu	37	chr19	6454651	6454651	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcgccggccaccagctgTttccaccacatgcccgtcag	9	18	1	0	rs8103745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6454651T>C	ENST00000301454.4	-	5	667	c.561A>G	c.(559-561)aaA>aaG	p.K187K	SLC25A23_ENST00000414491.2_Silent_p.K4K|SLC25A23_ENST00000334510.5_Silent_p.K187K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	187					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCACCAGCTGTTTCCACCACA	0.612													C|||	924	0.184505	0.5983	0.0576	5008	,	,		18809	0.0		0.0268	False		,,,				2504	0.0675				p.K187K		Atlas-SNP	.											.	SLC25A23	43	.	0			c.A561G						PASS	.	C		2286,2120	576.0+/-384.1	590,1106,507	54	49	51		561	0.6	1	19	dbSNP_116	51	357,8243	802.2+/-407.3	6,345,3949	no	coding-synonymous	SLC25A23	NM_024103.2		596,1451,4456	CC,CT,TT		4.1512,48.1162,20.3214		187/469	6454651	2643,10363	2203	4300	6503	SO:0001819	synonymous_variant	79085	exon5			CAGCTGTTTCCAC	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.561A>G	19.37:g.6454651T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	77	42	0.545455	NM_024103	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																			T|0.820;C|0.180	0.180	strong		0.612	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		C	6454651	T	C	6454651	2	2	22	1	0	0	0	0	0	0	0	1	14486	1722	60	2		2	SLC25A23	19	6454651	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80422	6454651	52674332	9427	14535										
CRB3	92359	hgsc.bcm.edu	37	chr19	6466482	6466482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcccctctctgcagcgtccAgaagccatcactgctatcat	7	16	3	1	rs348362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6466482A>G	ENST00000598494.1	+	4	693	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CRB3_ENST00000308243.7_Silent_p.P54P|CRB3_ENST00000600229.1_Silent_p.P54P|CRB3_ENST00000356762.3_Silent_p.P54P			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	54					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						TGCAGCGTCCAGAAGCCATCA	0.612													G|||	2120	0.423323	0.6233	0.3127	5008	,	,		17782	0.1875		0.5189	False		,,,				2504	0.3763				p.P54P		Atlas-SNP	.											.	CRB3	8	.	0			c.A162G						PASS	.	G	,	2528,1878	540.5+/-375.5	709,1110,384	178	156	163		162,162	2	0	19	dbSNP_79	163	4733,3867	542.6+/-384.2	1291,2151,858	no	coding-synonymous,coding-synonymous	CRB3	NM_139161.3,NM_174881.2	,	2000,3261,1242	GG,GA,AA		44.9651,42.6237,44.1719	,	54/121,54/124	6466482	7261,5745	2203	4300	6503	SO:0001819	synonymous_variant	92359	exon4			GCGTCCAGAAGCC	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"crumbs homolog 3 (Drosophila)"				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.162A>G	19.37:g.6466482A>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	111	59	0.531532	NM_174881	A8KA91|D6W643|Q8N0V8|Q8WVA0	Silent	SNP	ENST00000598494.1	37	CCDS12167.1																																																																																			A|0.494;G|0.506	0.506	strong		0.612	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			G	6466482	A	G	6466482	2	3	22	1	0	0	0	0	0	0	0	1	3850	175	7	3		3	CRB3	19	6466482	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11831	6466482	52662501	9428	14536										
DENND1C	79958	hgsc.bcm.edu	37	chr19	6468331	6468331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcgctcttggctcccaTgctaagactgtccagaatct	9	14	2	2	rs62107586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6468331T>C	ENST00000381480.2	-	22	1817	c.1705A>G	c.(1705-1707)Atg>Gtg	p.M569V	DENND1C_ENST00000543576.1_Missense_Mutation_p.M525V	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	569					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TTGGCTCCCATGCTAAGACTG	0.582													C|||	1147	0.229034	0.3245	0.245	5008	,	,		17696	0.003		0.3877	False		,,,				2504	0.1585				p.M569V		Atlas-SNP	.											.	DENND1C	93	.	0			c.A1705G						PASS	.	C	VAL/MET	1327,2747		224,879,934	50	52	51		1705	-5.2	0	19	dbSNP_129	51	3596,4782		756,2084,1349	yes	missense	DENND1C	NM_024898.2	21	980,2963,2283	CC,CT,TT		42.9219,32.5724,39.5358	benign	569/802	6468331	4923,7529	2037	4189	6226	SO:0001583	missense	79958	exon22			CTCCCATGCTAAG	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1705A>G	19.37:g.6468331T>C	ENSP00000370889:p.Met569Val	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	241	121	0.502075	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	560	0.2564102564102564	176	0.35772357723577236	99	0.27348066298342544	2	0.0034965034965034965	283	0.3733509234828496	C	0.015	-1.565636	0.00903	0.325724	0.429219	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.08546	3.25;3.08	4.75	-5.17	0.02849	.	1.339980	0.05292	N	0.521292	T	0.00012	0.0000	N	0.01168	-0.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46555	-0.9183	9	0.02654	T	1	0.2663	6.0997	0.20041	0.0:0.22:0.2458:0.5342	rs62107586	569	Q8IV53	DEN1C_HUMAN	V	569;525	ENSP00000370889:M569V;ENSP00000437805:M525V	ENSP00000370889:M569V	M	-	1	0	DENND1C	6419331	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-1.413000	0.02473	-0.799000	0.04439	-0.684000	0.03749	ATG	A|0.000;C|0.295;G|0.000;T|0.705	0.295	strong		0.582	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		C	6468331	T	C	6468331	3	2	22	1	0	0	0	0	1	0	0	0	4428	1464	51	2	708	2	DENND1C	19	6468331	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1849	6468331	52660652	9429	14537										
DENND1C	79958	hgsc.bcm.edu	37	chr19	6480013	6480013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaccctcctgcagggaggCagggcaggccgcttcgaaga	14	14	1	1	rs10416003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6480013C>T	ENST00000381480.2	-	2	179	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	DENND1C_ENST00000591030.1_Intron|DENND1C_ENST00000543576.1_Intron	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	23	UDENN.		A -> T (in dbSNP:rs10416003).		positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGCAGGGAGGCAGGGCAGGCC	0.607													c|||	50	0.00998403	0.0363	0.0014	5008	,	,		16807	0.0		0.001	False		,,,				2504	0.0				p.A23T		Atlas-SNP	.											.	DENND1C	93	.	0			c.G67A						PASS	.	C	THR/ALA	144,3742		2,140,1801	34	39	37		67	-1.7	0.1	19	dbSNP_119	37	1,8255		0,1,4127	yes	missense	DENND1C	NM_024898.2	58	2,141,5928	TT,TC,CC		0.0121,3.7056,1.1942	benign	23/802	6480013	145,11997	1943	4128	6071	SO:0001583	missense	79958	exon2			GGGAGGCAGGGCA	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.67G>A	19.37:g.6480013C>T	ENSP00000370889:p.Ala23Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	145	77	0.531034	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	18	0.008241758241758242	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	9.626	1.135185	0.21123	0.037056	1.21E-4	ENSG00000205744	ENST00000381480	T	0.08193	3.12	4.95	-1.69	0.08186	uDENN (3);	0.538503	0.18725	N	0.132907	T	0.00695	0.0023	N	0.08118	0	0.09310	N	0.999995	B	0.16396	0.017	B	0.13407	0.009	T	0.44360	-0.9333	10	0.18710	T	0.47	-2.0715	5.3304	0.15930	0.0:0.4706:0.1479:0.3814	rs10416003;rs10416003	23	Q8IV53	DEN1C_HUMAN	T	23	ENSP00000370889:A23T	ENSP00000370889:A23T	A	-	1	0	DENND1C	6431013	0.003000	0.15002	0.132000	0.22025	0.862000	0.49288	-0.763000	0.04740	-0.080000	0.12685	0.558000	0.71614	GCC	C|0.991;T|0.009	0.009	strong		0.607	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		T	6480013	C	T	6480013	3	4	22	1	0	0	0	0	1	0	0	0	4428	710	25	2	2426	2	DENND1C	19	6480013	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11682	6480013	52648970	9430	14538										
TNFSF14	8740	hgsc.bcm.edu	37	chr19	6669934	6669934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccttggacggccagcccGgcccccatcagcaacagcaa	10	18	1	0	rs2291668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6669934G>A	ENST00000599359.1	-	2	528	c.147C>T	c.(145-147)gcC>gcT	p.A49A	TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	49					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCAGCCCGGCCCCCATCA	0.662													G|||	883	0.176318	0.0983	0.2248	5008	,	,		15316	0.2788		0.1958	False		,,,				2504	0.1217				p.A49A		Atlas-SNP	.											TNFSF14,NS,carcinoma,-1,1	TNFSF14	40	1	0			c.C147T						scavenged	.	G	,	490,3916	227.8+/-242.9	27,436,1740	89	84	86		147,	-9.8	0	19	dbSNP_100	86	1362,7238	266.1+/-286.5	121,1120,3059	no	coding-synonymous,intron	TNFSF14	NM_003807.3,NM_172014.2	,	148,1556,4799	AA,AG,GG		15.8372,11.1212,14.2396	,	49/241,	6669934	1852,11154	2203	4300	6503	SO:0001819	synonymous_variant	8740	exon2			CAGCCCGGCCCCC	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.147C>T	19.37:g.6669934G>A		Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	137	69	0.50365	NM_003807	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	CCDS12171.1																																																																																			G|0.841;A|0.159	0.159	strong		0.662	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			A	6669934	G	A	6669934	2	1	22	1	0	0	0	0	0	0	0	1	16304	1103	39	1		1	TNFSF14	19	6669934	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	189921	6669934	52459049	9431	14539										
C3	718	hgsc.bcm.edu	37	chr19	6709704	6709704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcccttaccttactctgCgtcagtttgttcttcttatt	6	12	4	0	rs2230205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6709704C>T	ENST00000245907.6	-	14	1928	c.1836G>A	c.(1834-1836)acG>acA	p.T612T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	612					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTTACTCTGCGTCAGTTTGT	0.617													c|||	1094	0.21845	0.1346	0.1066	5008	,	,		13822	0.4425		0.1372	False		,,,				2504	0.2638				p.T612T		Atlas-SNP	.											.	C3	192	.	0			c.G1836A						PASS	.			509,3897	233.6+/-246.7	19,471,1713	138	146	143		1836	-10	0	19	dbSNP_98	143	1117,7483	231.5+/-265.5	89,939,3272	no	coding-synonymous	C3	NM_000064.2		108,1410,4985	TT,TC,CC		12.9884,11.5524,12.5019		612/1664	6709704	1626,11380	2203	4300	6503	SO:0001819	synonymous_variant	718	exon14			ACTCTGCGTCAGT	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1836G>A	19.37:g.6709704C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	139	136	0.978417	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			C|0.836;T|0.164	0.164	strong		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6709704	C	T	6709704	2	4	22	1	0	0	0	0	0	0	0	1	2204	755	27	1		1	C3	19	6709704	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39770	6709704	52419279	9432	14540										
C3	718	hgsc.bcm.edu	37	chr19	6711070	6711070	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaagttgacgttgagggtCtccccgggtctgagctctgt	15	9	3	3	rs11569422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6711070C>G	ENST00000245907.6	-	12	1499	c.1407G>C	c.(1405-1407)gaG>gaC	p.E469D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	469			E -> D (in dbSNP:rs11569422).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTTGAGGGTCTCCCCGGGTC	0.602													C|||	81	0.0161741	0.059	0.0029	5008	,	,		16993	0.0		0.001	False		,,,				2504	0.0				p.E469D		Atlas-SNP	.											.	C3	192	.	0			c.G1407C						PASS	.	C	ASP/GLU	180,4226	116.7+/-154.6	1,178,2024	244	215	225		1407	-10.1	0	19	dbSNP_120	225	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C3	NM_000064.2	45	1,181,6321	GG,GC,CC		0.0349,4.0853,1.407	benign	469/1664	6711070	183,12823	2203	4300	6503	SO:0001583	missense	718	exon12			GAGGGTCTCCCCG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1407G>C	19.37:g.6711070C>G	ENSP00000245907:p.Glu469Asp	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	184	90	0.48913	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	28	0.01282051282051282	27	0.054878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	C	0.018	-1.468540	0.01053	0.040853	3.49E-4	ENSG00000125730	ENST00000245907	T	0.63417	-0.04	5.03	-10.1	0.00402	Alpha-2-macroglobulin, N-terminal 2 (1);	0.352724	0.35013	N	0.003502	T	0.03739	0.0106	N	0.04655	-0.195	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.41448	-0.9508	10	0.02654	T	1	.	9.8878	0.41272	0.0906:0.1208:0.6374:0.1513	rs11569422	469	P01024	CO3_HUMAN	D	469	ENSP00000245907:E469D	ENSP00000245907:E469D	E	-	3	2	C3	6662070	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.288000	0.02783	-0.902000	0.03886	-1.288000	0.01363	GAG	C|0.980;G|0.020	0.020	strong		0.602	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6711070	C	G	6711070	3	3	22	1	0	0	0	0	1	0	0	0	2204	912	32	4	3704	4	C3	19	6711070	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1366	6711070	52417913	9433	14541										
C3	718	hgsc.bcm.edu	37	chr19	6713291	6713291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accccgtccagcagtaccttCcggctcagcacaacctcccc	6	21	1	0	rs2230201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6713291C>T	ENST00000245907.6	-	9	1004	c.912G>A	c.(910-912)cgG>cgA	p.R304R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	304					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCAGTACCTTCCGGCTCAGCA	0.642													C|||	1141	0.227835	0.1362	0.1225	5008	,	,		14613	0.4464		0.161	False		,,,				2504	0.2699				p.R304R		Atlas-SNP	.											.	C3	192	.	0			c.G912A						PASS	.	C		523,3883	236.1+/-248.4	25,473,1705	45	41	42		912	-9	0	19	dbSNP_98	42	1374,7226	263.9+/-285.3	129,1116,3055	no	coding-synonymous	C3	NM_000064.2		154,1589,4760	TT,TC,CC		15.9767,11.8702,14.5856		304/1664	6713291	1897,11109	2203	4300	6503	SO:0001819	synonymous_variant	718	exon9			TACCTTCCGGCTC	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.912G>A	19.37:g.6713291C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			T|0.156;G|0.000;C|0.844	0.156	strong		0.642	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6713291	C	T	6713291	2	4	22	1	0	0	0	0	0	0	0	1	2204	842	30	2		2	C3	19	6713291	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2221	6713291	52415692	9434	14542										
GPR108	56927	hgsc.bcm.edu	37	chr19	6735929	6735929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccactcactgaataggagCgaactctgccagaccgaacc	8	15	2	2	rs11539588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6735929C>T	ENST00000264080.7	-	3	307	c.281G>A	c.(280-282)cGc>cAc	p.R94H	TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	94						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGAATAGGAGCGAACTCTGCC	0.597											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	303	0.0605032	0.1384	0.0663	5008	,	,		15640	0.0437		0.0169	False		,,,				2504	0.0133				p.R94H		Atlas-SNP	.											.	GPR108	35	.	0			c.G281A						PASS	.	C	HIS/ARG	379,3415		17,345,1535	37	41	40		281	-0.9	0	19	dbSNP_120	40	138,8084		0,138,3973	yes	missense	GPR108	NM_001080452.1	29	17,483,5508	TT,TC,CC		1.6784,9.9895,4.3026	possibly-damaging	94/544	6735929	517,11499	1897	4111	6008	SO:0001583	missense	56927	exon3			TAGGAGCGAACTC		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.281G>A	19.37:g.6735929C>T	ENSP00000264080:p.Arg94His	Somatic	63	0	0	636	WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_001080452	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	144	0.06593406593406594	73	0.1483739837398374	24	0.06629834254143646	33	0.057692307692307696	14	0.018469656992084433	C	1.254	-0.617668	0.03663	0.099895	0.016784	ENSG00000125734	ENST00000264080	T	0.23147	1.92	4.23	-0.876	0.10624	.	0.836337	0.09852	N	0.747434	T	0.00073	0.0002	N	0.25890	0.77	0.58432	P	2.9999999999752447E-6	B	0.11235	0.004	B	0.06405	0.002	T	0.25950	-1.0117	9	0.54805	T	0.06	-36.7302	4.5388	0.12047	0.1523:0.599:0.149:0.0997	rs11539588	94	Q9NPR9	GP108_HUMAN	H	94	ENSP00000264080:R94H	ENSP00000264080:R94H	R	-	2	0	GPR108	6686929	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.072000	0.03434	-0.255000	0.09486	-0.959000	0.02639	CGC	C|0.952;T|0.048	0.048	strong		0.597	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			T	6735929	C	T	6735929	3	4	22	1	0	0	0	0	1	0	0	0	6624	768	27	1	1414	1	GPR108	19	6735929	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22638	6735929	52393054	9435	14543										
GPR108	56927	hgsc.bcm.edu	37	chr19	6737516	6737516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcagccacccagcagcagCaccagaagtagccgctgccc	11	17	0	1	rs11539591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6737516C>T	ENST00000264080.7	-	1	98	c.72G>A	c.(70-72)gtG>gtA	p.V24V	TRIP10_ENST00000313244.9_5'Flank|TRIP10_ENST00000600428.1_5'Flank|TRIP10_ENST00000596758.1_5'Flank|TRIP10_ENST00000313285.8_5'Flank|GPR108_ENST00000430424.4_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	24						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGCAGCAGCACCAGAAGTA	0.726													C|||	466	0.0930511	0.0408	0.2291	5008	,	,		11089	0.002		0.172	False		,,,				2504	0.0798				p.V24V		Atlas-SNP	.											.	GPR108	35	.	0			c.G72A						PASS	.	C		159,3439		5,149,1645	4	8	7		72	3	0.8	19	dbSNP_120	7	1213,6641		77,1059,2791	no	coding-synonymous	GPR108	NM_001080452.1		82,1208,4436	TT,TC,CC		15.4444,4.4191,11.9804		24/544	6737516	1372,10080	1799	3927	5726	SO:0001819	synonymous_variant	56927	exon1			CAGCAGCACCAGA		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.72G>A	19.37:g.6737516C>T		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	17	10	0.588235	NM_001080452	B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1	217	0.09935897435897435	27	0.054878048780487805	71	0.19613259668508287	1	0.0017482517482517483	118	0.15567282321899736	C	8.583	0.882728	0.17467	0.044191	0.154444	ENSG00000125734	ENST00000549846	.	.	.	4.1	3.04	0.35103	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	0.9999999999994513	.	.	.	.	.	.	T	0.07309	-1.0779	3	.	.	.	-19.2802	9.5993	0.39593	0.0:0.786:0.214:0.0	rs11539591	.	.	.	T	24	.	.	A	-	1	0	GPR108	6688516	0.212000	0.23540	0.829000	0.32907	0.497000	0.33675	0.038000	0.13862	0.919000	0.36945	0.555000	0.69702	GCT	C|0.900;T|0.100	0.100	strong		0.726	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			T	6737516	C	T	6737516	2	4	22	1	0	0	0	0	0	0	0	1	6624	697	25	2		2	GPR108	19	6737516	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1587	6737516	52391467	9436	14544										
TRIP10	9322	hgsc.bcm.edu	37	chr19	6751103	6751103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggcactatctctatggccGagggtgaagacctcagtctt	12	10	3	2	rs139253875	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6751103G>A	ENST00000313244.9	+	15	1722	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Missense_Mutation_p.E399K|TRIP10_ENST00000596758.1_Silent_p.P516P|TRIP10_ENST00000313285.8_Missense_Mutation_p.E507K			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	563	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E507Q(1)|p.E563Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CTCTATGGCCGAGGGTGAAGA	0.532													G|||	7	0.00139776	0.0053	0.0	5008	,	,		15820	0.0		0.0	False		,,,				2504	0.0				p.E507K		Atlas-SNP	.											TRIP10_ENST00000313244,NS,carcinoma,0,2	TRIP10	104	2	2	Substitution - Missense(2)	lung(2)	c.G1519A						PASS	.	G	LYS/GLU	13,4393	20.2+/-43.8	0,13,2190	52	59	57		1519	4.7	1	19	dbSNP_134	57	0,8600		0,0,4300	yes	missense	TRIP10	NM_004240.2	56	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	possibly-damaging	507/546	6751103	13,12993	2203	4300	6503	SO:0001583	missense	9322	exon14			ATGGCCGAGGGTG	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1687G>A	19.37:g.6751103G>A	ENSP00000320117:p.Glu563Lys	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	146	65	0.445205	NM_004240	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.1	4.800102	0.90538	0.002951	0.0	ENSG00000125733	ENST00000313285;ENST00000313244	T;T	0.40756	1.02;1.02	4.66	4.66	0.58398	Src homology-3 domain (4);	0.349695	0.29822	N	0.011119	T	0.60894	0.2304	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.983;0.997	T	0.63739	-0.6569	10	0.87932	D	0	-32.2852	15.4165	0.74974	0.0:0.0:1.0:0.0	.	563;507	Q15642;Q15642-2	CIP4_HUMAN;.	K	507;563	ENSP00000320493:E507K;ENSP00000320117:E563K	ENSP00000320117:E563K	E	+	1	0	TRIP10	6702103	1.000000	0.71417	0.992000	0.48379	0.699000	0.40488	8.973000	0.93428	2.580000	0.87095	0.305000	0.20034	GAG	G|0.999;A|0.001	0.001	strong		0.532	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			A	6751103	G	A	6751103	3	1	22	1	0	0	0	0	1	0	0	0	16551	1059	37	1	1573	1	TRIP10	19	6751103	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13587	6751103	52377880	9437	14545										
SH2D3A	10045	hgsc.bcm.edu	37	chr19	6760974	6760974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaaccaggaagtcgccatTttgctgaagaagagcttcag	12	9	1	3	rs7258236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6760974T>C	ENST00000245908.6	-	3	363	c.94A>G	c.(94-96)Aat>Gat	p.N32D	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	32	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		N -> D (in dbSNP:rs7258236). {ECO:0000269|PubMed:10187783, ECO:0000269|PubMed:12975309}.		JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AAGTCGCCATTTTGCTGAAGA	0.592													C|||	1304	0.260383	0.469	0.1571	5008	,	,		16006	0.0565		0.2247	False		,,,				2504	0.2986				p.N32D		Atlas-SNP	.											.	SH2D3A	53	.	0			c.A94G						PASS	.	C	ASP/ASN	1830,2574		382,1066,754	22	21	21		94	3.7	0.9	19	dbSNP_116	21	1858,6738		225,1408,2665	yes	missense	SH2D3A	NM_005490.2	23	607,2474,3419	CC,CT,TT		21.6147,41.5531,28.3692	benign	32/577	6760974	3688,9312	2202	4298	6500	SO:0001583	missense	10045	exon3			CGCCATTTTGCTG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.94A>G	19.37:g.6760974T>C	ENSP00000245908:p.Asn32Asp	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	CCDS12173.1	482	0.2206959706959707	206	0.4186991869918699	64	0.17679558011049723	37	0.06468531468531469	175	0.23087071240105542	C	2.186	-0.386345	0.04966	0.415531	0.216147	ENSG00000125731	ENST00000245908	T	0.59772	0.24	4.81	3.74	0.42951	SH2 motif (5);	0.000000	0.44097	N	0.000482	T	0.00012	0.0000	N	0.01235	-0.94	0.09310	P	0.999999928166	B	0.02656	0.0	B	0.04013	0.001	T	0.39482	-0.9612	9	0.02654	T	1	-11.7979	7.1734	0.25730	0.0:0.7255:0.0:0.2745	rs7258236;rs60821729;rs7258236	32	Q9BRG2	SH23A_HUMAN	D	32	ENSP00000245908:N32D	ENSP00000245908:N32D	N	-	1	0	SH2D3A	6711974	0.356000	0.24930	0.940000	0.37924	0.840000	0.47671	0.652000	0.24888	1.285000	0.44548	-0.222000	0.12452	AAT	T|0.735;C|0.265	0.265	strong		0.592	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		C	6760974	T	C	6760974	3	2	22	1	0	0	0	0	1	0	0	0	14233	1841	64	2	1668	2	SH2D3A	19	6760974	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	9871	6760974	52368009	9438	14546										
SH2D3A	10045	hgsc.bcm.edu	37	chr19	6763718	6763718	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaggaggccgtggtaccaAggttggccagcaaggtcttc	15	10	1	0	rs2305805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6763718A>G	ENST00000245908.6	-	2	311	c.42T>C	c.(40-42)ccT>ccC	p.P14P	SH2D3A_ENST00000599563.1_5'Flank|SH2D3A_ENST00000437152.3_Missense_Mutation_p.L9P	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	14					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CGTGGTACCAAGGTTGGCCAG	0.617													G|||	1303	0.260184	0.4682	0.1571	5008	,	,		14692	0.0565		0.2247	False		,,,				2504	0.2986				p.P14P		Atlas-SNP	.											.	SH2D3A	53	.	0			c.T42C						PASS	.	G		1863,2543	628.9+/-395.2	393,1077,733	90	72	78		42	2	1	19	dbSNP_100	78	1866,6734	725.7+/-406.6	208,1450,2642	no	coding-synonymous	SH2D3A	NM_005490.2		601,2527,3375	GG,GA,AA		21.6977,42.2833,28.6714		14/577	6763718	3729,9277	2203	4300	6503	SO:0001819	synonymous_variant	10045	exon2			GTACCAAGGTTGG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.42T>C	19.37:g.6763718A>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	CCDS12173.1	480	0.21978021978021978	204	0.4146341463414634	64	0.17679558011049723	37	0.06468531468531469	175	0.23087071240105542	G	8.380	0.837313	0.16891	0.422833	0.216977	ENSG00000125731	ENST00000437152	T	0.32272	1.46	4.21	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.26469	P	0.9753131	B	0.02656	0.0	B	0.01281	0.0	T	0.48151	-0.9060	6	.	.	.	-7.4148	4.1083	0.10047	0.2892:0.1735:0.5373:0.0	rs2305805;rs58578745;rs2305805	9	B4DRS7	.	P	9	ENSP00000393303:L9P	.	L	-	2	0	SH2D3A	6714718	1.000000	0.71417	0.998000	0.56505	0.453000	0.32348	0.586000	0.23894	0.175000	0.19841	-0.119000	0.15052	CTT	A|0.742;G|0.258	0.258	strong		0.617	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		G	6763718	A	G	6763718	2	3	22	1	0	0	0	0	0	0	0	1	14233	59	3	3		3	SH2D3A	19	6763718	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2744	6763718	52365265	9439	14547										
EMR1	2015	hgsc.bcm.edu	37	chr19	6896483	6896483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtggacagttactattgcGcttgcaaacaaggcttcctg	10	10	0	0	rs330877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6896483G>A	ENST00000312053.4	+	3	206	c.169G>A	c.(169-171)Gct>Act	p.A57T	EMR1_ENST00000250572.8_Missense_Mutation_p.A57T|EMR1_ENST00000601198.1_3'UTR|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381407.5_Missense_Mutation_p.A57T|EMR1_ENST00000450315.3_Missense_Mutation_p.A57T|EMR1_ENST00000381404.4_Missense_Mutation_p.A57T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	57	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		A -> T (in dbSNP:rs330877). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7601460}.		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)					TTACTATTGCGCTTGCAAACA	0.463													g|||	1693	0.338059	0.3903	0.3934	5008	,	,		20636	0.3403		0.2674	False		,,,				2504	0.2986				p.A57T		Atlas-SNP	.											EMR1,NS,carcinoma,-1,1	EMR1	153	1	0			c.G169A						scavenged	.	A	THR/ALA	1595,2811	496.0+/-363.4	292,1011,900	176	143	154		169	-3.3	0	19	dbSNP_79	154	2512,6088	411.9+/-350.6	356,1800,2144	yes	missense	EMR1	NM_001974.3	58	648,2811,3044	AA,AG,GG		29.2093,36.2006,31.5777	benign	57/887	6896483	4107,8899	2203	4300	6503	SO:0001583	missense	2015	exon3			TATTGCGCTTGCA	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.169G>A	19.37:g.6896483G>A	ENSP00000311545:p.Ala57Thr	Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	160	81	0.50625	NM_001256252	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	728	0.3333333333333333	167	0.3394308943089431	147	0.40607734806629836	210	0.36713286713286714	204	0.2691292875989446	g	0.072	-1.200768	0.01581	0.362006	0.292093	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.91	-3.26	0.05064	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.00510	-1.415	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.04140	-1.0974	8	0.05351	T	0.99	.	4.3996	0.11379	0.5505:0.0:0.2083:0.2412	rs330877;rs2228536;rs330877	57;57;57;57;57	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	T	57	ENSP00000311545:A57T;ENSP00000370811:A57T;ENSP00000250572:A57T;ENSP00000370814:A57T;ENSP00000405974:A57T	ENSP00000250572:A57T	A	+	1	0	EMR1	6847483	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-1.051000	0.03226	-2.703000	0.00135	GCT	G|0.675;A|0.325	0.325	strong		0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			A	6896483	G	A	6896483	3	1	22	1	0	0	0	0	1	0	0	0	5104	1087	38	1	179	1	EMR1	19	6896483	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132765	6896483	52232500	9440	14548										
EMR1	2015	hgsc.bcm.edu	37	chr19	6897464	6897464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgagtgcctcaccagcagCgtctgccctgagcattctga	10	13	3	3	rs330880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6897464C>G	ENST00000312053.4	+	5	457	c.420C>G	c.(418-420)agC>agG	p.S140R	EMR1_ENST00000250572.8_Missense_Mutation_p.S140R|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Splice_Site|EMR1_ENST00000601198.1_3'UTR|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381404.4_Missense_Mutation_p.S88R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	140	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		S -> R (in dbSNP:rs330880). {ECO:0000269|PubMed:7601460}.		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)					TCACCAGCAGCGTCTGCCCTG	0.488													g|||	2513	0.501797	0.8328	0.4496	5008	,	,		18558	0.4831		0.2734	False		,,,				2504	0.3456				p.S140R		Atlas-SNP	.											.	EMR1	153	.	0			c.C420G						PASS	.	G	ARG/SER	3211,1195	416.3+/-337.5	1181,849,173	96	79	85		420	-3.2	0	19	dbSNP_79	85	2630,5970	687.8+/-404.2	410,1810,2080	yes	missense	EMR1	NM_001974.3	110	1591,2659,2253	GG,GC,CC		30.5814,27.1221,44.91	benign	140/887	6897464	5841,7165	2203	4300	6503	SO:0001583	missense	2015	exon5			CAGCAGCGTCTGC	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.420C>G	19.37:g.6897464C>G	ENSP00000311545:p.Ser140Arg	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	244	114	0.467213	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	1030|1030	0.4716117216117216|0.4716117216117216	395|395	0.8028455284552846|0.8028455284552846	147|147	0.40607734806629836|0.40607734806629836	290|290	0.506993006993007|0.506993006993007	198|198	0.2612137203166227|0.2612137203166227	G|G	2.796|2.796	-0.250332|-0.250332	0.05867|0.05867	0.728779|0.728779	0.305814|0.305814	ENSG00000174837|ENSG00000174837	ENST00000450315|ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	.|D;D;D	.|0.91996	.|-2.95;-2.95;-2.95	4.12|4.12	-3.22|-3.22	0.05125|0.05125	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	L|L	0.36672|0.36672	1.1|1.1	0.52501|0.52501	P|P	4.599999999999049E-5|4.599999999999049E-5	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.12156	.|0.001;0.005;0.007	.|T	.|0.38067	.|-0.9678	.|8	.|0.15499	.|T	.|0.54	.|.	5.443|5.443	0.16519|0.16519	0.3573:0.4541:0.1886:0.0|0.3573:0.4541:0.1886:0.0	rs330880;rs2228537;rs52813683;rs60071314;rs330880|rs330880;rs2228537;rs52813683;rs60071314;rs330880	.|140;88;140	.|Q14246-2;E9PD45;Q14246	.|.;.;EMR1_HUMAN	.|R	-1|140;140;88;140	.|ENSP00000311545:S140R;ENSP00000370811:S88R;ENSP00000250572:S140R	.|ENSP00000250572:S140R	.|S	+|+	.|3	.|2	EMR1|EMR1	6848464|6848464	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.976000|-1.976000	0.01497|0.01497	-0.762000|-0.762000	0.04664|0.04664	-0.215000|-0.215000	0.12644|0.12644	.|AGC	C|0.551;G|0.449	0.449	strong		0.488	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			G	6897464	C	G	6897464	3	3	22	1	0	0	0	0	1	0	0	0	5104	767	27	4	438	4	EMR1	19	6897464	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	981	6897464	52231519	9441	14549										
EMR1	2015	hgsc.bcm.edu	37	chr19	6901891	6901891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttccactcttcagacgtgGatgaatgtgcagatccaaga	9	10	3	4	rs897738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6901891G>A	ENST00000312053.4	+	6	557	c.520G>A	c.(520-522)Gat>Aat	p.D174N	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.D174N|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Missense_Mutation_p.D122N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	174	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		D -> N (in dbSNP:rs897738). {ECO:0000269|PubMed:7601460}.		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)					TTCAGACGTGGATGAATGTGC	0.438													g|||	2170	0.433307	0.6664	0.4193	5008	,	,		22002	0.4563		0.2396	False		,,,				2504	0.3037				p.D174N		Atlas-SNP	.											.	EMR1	153	.	0			c.G520A						PASS	.	G	ASN/ASP	2595,1811	640.0+/-397.2	780,1035,388	265	277	273		520	1.8	0.4	19	dbSNP_86	273	2211,6389	375.5+/-337.8	290,1631,2379	yes	missense	EMR1	NM_001974.3	23	1070,2666,2767	AA,AG,GG		25.7093,41.103,36.9522	possibly-damaging	174/887	6901891	4806,8200	2203	4300	6503	SO:0001583	missense	2015	exon6			GACGTGGATGAAT	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.520G>A	19.37:g.6901891G>A	ENSP00000311545:p.Asp174Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	919	0.4207875457875458	318	0.6463414634146342	137	0.3784530386740331	284	0.4965034965034965	180	0.23746701846965698	G	5.882	0.346823	0.11126	0.58897	0.257093	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	D;D;D	0.94280	-3.39;-3.39;-3.39	3.97	1.81	0.25067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.20483	0.58	0.09310	P	0.99999999865625	B;B;B	0.19073	0.004;0.028;0.033	B;B;B	0.20577	0.006;0.027;0.03	T	0.45498	-0.9257	8	0.18276	T	0.48	.	7.0917	0.25287	0.223:0.0:0.777:0.0	rs897738;rs2228535;rs52838339;rs58854526;rs897738	174;122;174	Q14246-2;E9PD45;Q14246	.;.;EMR1_HUMAN	N	174;174;122;174	ENSP00000311545:D174N;ENSP00000370811:D122N;ENSP00000250572:D174N	ENSP00000250572:D174N	D	+	1	0	EMR1	6852891	0.889000	0.30405	0.388000	0.26195	0.002000	0.02628	0.319000	0.19522	0.170000	0.19704	-0.343000	0.07986	GAT	G|0.597;T|0.003	.	strong		0.438	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			A	6901891	G	A	6901891	3	1	22	1	0	0	0	0	1	0	0	0	5104	1174	41	2	542	2	EMR1	19	6901891	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4427	6901891	52227092	9442	14550										
EMR1	2015	hgsc.bcm.edu	37	chr19	6903920	6903920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctggctttgcaccaagcaAtggacagttgaatttcacag	9	11	1	1	rs443658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6903920A>G	ENST00000312053.4	+	7	798	c.761A>G	c.(760-762)aAt>aGt	p.N254S	EMR1_ENST00000250572.8_Missense_Mutation_p.N254S|EMR1_ENST00000381407.5_Missense_Mutation_p.N113S|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.N202S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	254	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		N -> S (in dbSNP:rs443658). {ECO:0000269|PubMed:7601460}.		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)					GCACCAAGCAATGGACAGTTG	0.458													A|||	2167	0.432708	0.6664	0.4193	5008	,	,		23379	0.4554		0.2396	False		,,,				2504	0.3016				p.N254S		Atlas-SNP	.											EMR1,NS,carcinoma,+1,1	EMR1	153	1	0			c.A761G						PASS	.	A	SER/ASN	2594,1812	639.9+/-397.2	780,1034,389	99	98	98		761	-0.2	0	19	dbSNP_80	98	2211,6389	375.7+/-337.9	290,1631,2379	yes	missense	EMR1	NM_001974.3	46	1070,2665,2768	GG,GA,AA		25.7093,41.1257,36.9445	benign	254/887	6903920	4805,8201	2203	4300	6503	SO:0001583	missense	2015	exon7			CAAGCAATGGACA	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.761A>G	19.37:g.6903920A>G	ENSP00000311545:p.Asn254Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	92	38	0.413043	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	918	0.42032967032967034	318	0.6463414634146342	137	0.3784530386740331	283	0.49475524475524474	180	0.23746701846965698	A	1.890	-0.455654	0.04540	0.588743	0.257093	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.92647	-3.08;-2.22;-3.08;-2.22	3.35	-0.148	0.13424	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.28776	0.89	0.54753	P	1.799999999996249E-5	B;D;P;P	0.71674	0.304;0.998;0.555;0.832	B;D;B;P	0.80764	0.068;0.994;0.159;0.519	T	0.48547	-0.9026	8	0.02654	T	1	.	5.7979	0.18397	0.5085:0.0:0.4915:0.0	rs443658;rs2228534;rs52792901;rs59336086;rs443658	113;254;202;254	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	S	254;254;202;254;113	ENSP00000311545:N254S;ENSP00000370811:N202S;ENSP00000250572:N254S;ENSP00000370814:N113S	ENSP00000250572:N254S	N	+	2	0	EMR1	6854920	0.000000	0.05858	0.041000	0.18516	0.229000	0.25112	-0.193000	0.09573	0.024000	0.15214	-0.408000	0.06270	AAT	T|0.001;G|0.397	0.397	strong		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			G	6903920	A	G	6903920	3	3	22	1	0	0	0	0	1	0	0	0	5104	101	4	2	787	2	EMR1	19	6903920	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2029	6903920	52225063	9443	14551										
EMR1	2015	hgsc.bcm.edu	37	chr19	6904137	6904137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacagctgtggctgcattgCaggctttcatcccaatccag	9	13	1	0	rs370094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:6904137C>T	ENST00000312053.4	+	8	930	c.893C>T	c.(892-894)gCa>gTa	p.A298V	EMR1_ENST00000250572.8_Missense_Mutation_p.A298V|EMR1_ENST00000381407.5_Missense_Mutation_p.A157V|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.A246V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	298	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in dbSNP:rs370094). {ECO:0000269|PubMed:7601460}.		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)					GGCTGCATTGCAGGCTTTCAT	0.473													C|||	2167	0.432708	0.6664	0.4193	5008	,	,		18598	0.4554		0.2396	False		,,,				2504	0.3016				p.A298V		Atlas-SNP	.											.	EMR1	153	.	0			c.C893T						PASS	.	C	VAL/ALA	2594,1812	639.8+/-397.2	780,1034,389	91	85	87		893	-7.8	0	19	dbSNP_80	87	2212,6388	375.7+/-337.9	291,1630,2379	yes	missense	EMR1	NM_001974.3	64	1071,2664,2768	TT,TC,CC		25.7209,41.1257,36.9522	benign	298/887	6904137	4806,8200	2203	4300	6503	SO:0001583	missense	2015	exon8			GCATTGCAGGCTT	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.893C>T	19.37:g.6904137C>T	ENSP00000311545:p.Ala298Val	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	113	58	0.513274	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	918	0.42032967032967034	318	0.6463414634146342	137	0.3784530386740331	283	0.49475524475524474	180	0.23746701846965698	C	2.567	-0.300602	0.05495	0.588743	0.257209	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	3.89	-7.78	0.01223	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.20845	0.615	0.80722	P	0.0	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.11329	0.0;0.002;0.002;0.006	T	0.15435	-1.0437	8	0.48119	T	0.1	.	3.6824	0.08316	0.1963:0.4428:0.0932:0.2678	rs370094;rs2229770;rs52795015;rs59154947;rs370094	157;298;246;298	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	V	298;298;246;298;157	ENSP00000311545:A298V;ENSP00000370811:A246V;ENSP00000250572:A298V;ENSP00000370814:A157V	ENSP00000250572:A298V	A	+	2	0	EMR1	6855137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.439000	0.01016	-3.955000	0.00087	-2.282000	0.00269	GCA	C|0.602;T|0.398	0.398	strong		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			T	6904137	C	T	6904137	3	4	22	1	0	0	0	0	1	0	0	0	5104	710	25	2	923	2	EMR1	19	6904137	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	217	6904137	52224846	9444	14552										
INSR	3643	hgsc.bcm.edu	37	chr19	7141775	7141775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccacatcaagtggacgacGttgttctcaaagatttcatg	9	9	3	1	rs2229431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7141775G>A	ENST00000302850.5	-	13	2737	c.2595C>T	c.(2593-2595)aaC>aaT	p.N865N	INSR_ENST00000341500.5_Silent_p.N853N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	865	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	AGTGGACGACGTTGTTCTCAA	0.502													G|||	435	0.086861	0.174	0.0519	5008	,	,		21956	0.0685		0.0686	False		,,,				2504	0.0317				p.N865N		Atlas-SNP	.											.	INSR	265	.	0			c.C2595T						PASS	.	G	,	671,3735	285.7+/-278.4	52,567,1584	178	131	147		2595,2559	-6.3	0	19	dbSNP_98	147	494,8106	142.6+/-198.8	15,464,3821	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	67,1031,5405	AA,AG,GG		5.7442,15.2292,8.9574	,	865/1383,853/1371	7141775	1165,11841	2203	4300	6503	SO:0001819	synonymous_variant	3643	exon13			GACGACGTTGTTC	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2595C>T	19.37:g.7141775G>A		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	260	134	0.515385	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			G|0.905;A|0.095	0.095	strong		0.502	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7141775	G	A	7141775	2	1	22	1	0	0	0	0	0	0	0	1	7773	1136	40	1		1	INSR	19	7141775	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	237638	7141775	51987208	9445	14553										
INSR	3643	hgsc.bcm.edu	37	chr19	7163154	7163154	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagggtggtttccacttcaGaataatctgggatgatgagt	14	5	2	3	rs2963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7163154G>A	ENST00000302850.5	-	9	2060	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	AC010311.1_ENST00000581768.1_RNA|INSR_ENST00000341500.5_Silent_p.L640L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TTCCACTTCAGAATAATCTGG	0.517													A|||	800	0.159744	0.2723	0.0692	5008	,	,		15100	0.0367		0.0646	False		,,,				2504	0.2965				p.L640L		Atlas-SNP	.											.	INSR	265	.	0			c.C1918T						PASS	.	A	,	1034,3372	723.9+/-409.4	118,798,1287	163	167	166		1918,1918	-6.3	0	19	dbSNP_36	166	681,7919	788.0+/-407.6	33,615,3652	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	151,1413,4939	AA,AG,GG		7.9186,23.468,13.1862	,	640/1383,640/1371	7163154	1715,11291	2203	4300	6503	SO:0001819	synonymous_variant	3643	exon9			ACTTCAGAATAAT	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1918C>T	19.37:g.7163154G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	176	68	0.386364	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			G|0.876;A|0.124	0.124	strong		0.517	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7163154	G	A	7163154	2	1	22	1	0	0	0	0	0	0	0	1	7773	933	33	2		2	INSR	19	7163154	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21379	7163154	51965829	9446	14554										
INSR	3643	hgsc.bcm.edu	37	chr19	7166388	7166388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaccacacgcatcctgcccGtcgaactccgtcacattctg	7	17	2	0	rs2229429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7166388G>A	ENST00000302850.5	-	8	1780	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	INSR_ENST00000341500.5_Silent_p.D546D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	546					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CATCCTGCCCGTCGAACTCCG	0.547													G|||	1285	0.256589	0.4834	0.1441	5008	,	,		19189	0.0655		0.1909	False		,,,				2504	0.2945				p.D546D		Atlas-SNP	.											.	INSR	265	.	0			c.C1638T						PASS	.	G	,	1901,2505	545.4+/-376.8	403,1095,705	84	61	69		1638,1638	-4.5	0.8	19	dbSNP_98	69	1710,6890	311.2+/-310.2	165,1380,2755	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	568,2475,3460	AA,AG,GG		19.8837,43.1457,27.7641	,	546/1383,546/1371	7166388	3611,9395	2203	4300	6503	SO:0001819	synonymous_variant	3643	exon8			CTGCCCGTCGAAC	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1638C>T	19.37:g.7166388G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			T|0.000;G|0.746;C|0.000;A|0.254	0.254	strong		0.547	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7166388	G	A	7166388	2	1	22	1	0	0	0	0	0	0	0	1	7773	1136	40	1		1	INSR	19	7166388	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3234	7166388	51962595	9447	14555										
INSR	3643	hgsc.bcm.edu	37	chr19	7184518	7184518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtctccacacacctgccGtccaggtagaagttgcggca	11	14	1	1	rs891087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7184518G>A	ENST00000302850.5	-	3	925	c.783C>T	c.(781-783)gaC>gaT	p.D261D	INSR_ENST00000341500.5_Silent_p.D261D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	261	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CACACCTGCCGTCCAGGTAGA	0.627													G|||	694	0.138578	0.2262	0.085	5008	,	,		12759	0.0486		0.0726	False		,,,				2504	0.2188				p.D261D		Atlas-SNP	.											.	INSR	265	.	0			c.C783T						PASS	.	G	,	885,3521	334.7+/-303.5	91,703,1409	43	38	39		783,783	-8.6	0.5	19	dbSNP_86	39	747,7853	176.2+/-226.1	28,691,3581	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	119,1394,4990	AA,AG,GG		8.686,20.0862,12.5481	,	261/1383,261/1371	7184518	1632,11374	2203	4300	6503	SO:0001819	synonymous_variant	3643	exon3			CCTGCCGTCCAGG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.783C>T	19.37:g.7184518G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			A|0.117;C|0.000;G|0.883;T|0.000	0.117	strong		0.627	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7184518	G	A	7184518	2	1	22	1	0	0	0	0	0	0	0	1	7773	1136	40	1		1	INSR	19	7184518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18130	7184518	51944465	9448	14556										
INSR	3643	hgsc.bcm.edu	37	chr19	7267502	7267502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcaacacgatgtaattaTcctccacggaatccaggata	7	10	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7267502T>C	ENST00000302850.5	-	2	648	c.506A>G	c.(505-507)gAt>gGt	p.D169G	INSR_ENST00000341500.5_Missense_Mutation_p.D169G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	169	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GATGTAATTATCCTCCACGGA	0.532																																					p.D169G		Atlas-SNP	.											INSR_ENST00000302850,NS,carcinoma,+1,2	INSR	265	2	0			c.A506G						scavenged	.						156	125	135					19																	7267502		2203	4300	6503	SO:0001583	missense	3643	exon2			TAATTATCCTCCA	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.506A>G	19.37:g.7267502T>C	ENSP00000303830:p.Asp169Gly	Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	239	3	0.0125523	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922540	0.33908	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82344	-1.6;-1.6	5.1	5.1	0.69264	.	0.000000	0.46442	U	0.000286	T	0.76898	0.4052	L	0.43923	1.385	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.005;0.003;0.001	T	0.71803	-0.4482	10	0.31617	T	0.26	.	12.854	0.57873	0.0:0.0:0.0:1.0	.	160;169;169	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	G	169	ENSP00000303830:D169G;ENSP00000342838:D169G	ENSP00000303830:D169G	D	-	2	0	INSR	7218502	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.623000	0.83113	1.916000	0.55485	0.460000	0.39030	GAT	.	.	none		0.532	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			C	7267502	T	C	7267502	3	2	22	1	0	0	0	0	1	0	0	0	7773	1435	50	2	3726	2	INSR	19	7267502	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82984	7267502	51861481	9449	14557										
PEX11G	92960	hgsc.bcm.edu	37	chr19	7542118	7542118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcctcggcctggccgccGgcccgggccgcctggtacat	16	17	0	0	rs7256275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7542118G>A	ENST00000221480.1	-	5	704	c.696C>T	c.(694-696)gcC>gcT	p.A232A	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Silent_p.A162A	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	232					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CCTGGCCGCCGGCCCGGGCCG	0.711													G|||	708	0.141374	0.2254	0.1383	5008	,	,		13753	0.1389		0.0706	False		,,,				2504	0.1053				p.A232A		Atlas-SNP	.											.	PEX11G	16	.	0			c.C696T						PASS	.	G		835,3479		79,677,1401	7	11	10		696	-7.8	0	19	dbSNP_116	10	555,7895		21,513,3691	no	coding-synonymous	PEX11G	NM_080662.2		100,1190,5092	AA,AG,GG		6.568,19.3556,10.89		232/242	7542118	1390,11374	2157	4225	6382	SO:0001819	synonymous_variant	92960	exon5			GCCGCCGGCCCGG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.696C>T	19.37:g.7542118G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	61	32	0.52459	NM_080662	Q8NDM0	Silent	SNP	ENST00000221480.1	37	CCDS12178.1																																																																																			G|0.870;A|0.130	0.130	strong		0.711	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		A	7542118	G	A	7542118	2	1	22	1	0	0	0	0	0	0	0	1	11739	1103	39	1		1	PEX11G	19	7542118	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	274616	7542118	51586865	9450	14558										
PEX11G	92960	hgsc.bcm.edu	37	chr19	7547074	7547074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttccctaggacggagacAcagcggacaaaggcgtcctc	13	12	0	1	rs2303146	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7547074A>C	ENST00000221480.1	-	3	281	c.273T>G	c.(271-273)tgT>tgG	p.C91W	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Missense_Mutation_p.C21W	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	91			C -> W (in dbSNP:rs2303146).		peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GGACGGAGACACAGCGGACAA	0.632													C|||	2291	0.457468	0.7201	0.3055	5008	,	,		18080	0.4435		0.326	False		,,,				2504	0.3599				p.C91W		Atlas-SNP	.											.	PEX11G	16	.	0			c.T273G						PASS	.	C	TRP/CYS	2773,1611		888,997,307	35	31	33		273	-3.5	0	19	dbSNP_100	33	2669,5909		450,1769,2070	yes	missense	PEX11G	NM_080662.2	215	1338,2766,2377	CC,CA,AA		31.1145,36.7473,41.9843	benign	91/242	7547074	5442,7520	2192	4289	6481	SO:0001583	missense	92960	exon3			GGAGACACAGCGG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.273T>G	19.37:g.7547074A>C	ENSP00000221480:p.Cys91Trp	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	34	34	1	NM_001270539	Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	CCDS12178.1	922	0.42216117216117216	336	0.6829268292682927	101	0.27900552486187846	243	0.42482517482517484	242	0.31926121372031663	C	0.007	-1.998520	0.00435	0.632527	0.311145	ENSG00000104883	ENST00000221480	T	0.40476	1.03	4.76	-3.55	0.04639	.	0.407958	0.31438	N	0.007641	T	0.00012	0.0000	N	0.03891	-0.335	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.39231	-0.9624	9	0.26408	T	0.33	0.2335	9.6386	0.39824	0.5017:0.2648:0.2335:0.0	rs2303146;rs61461499;rs2303146	91	Q96HA9	PX11C_HUMAN	W	91	ENSP00000221480:C91W	ENSP00000221480:C91W	C	-	3	2	PEX11G	7453074	0.004000	0.15560	0.000000	0.03702	0.023000	0.10783	-0.078000	0.11375	-1.121000	0.02949	-0.217000	0.12591	TGT	A|0.557;C|0.443	0.443	strong		0.632	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		C	7547074	A	C	7547074	3	2	22	1	0	0	0	0	1	0	0	0	11739	157	6	5	464	5	PEX11G	19	7547074	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4956	7547074	51581909	9451	14559										
C19orf45	374877	hgsc.bcm.edu	37	chr19	7573225	7573225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaggagggcttcgtgcCcctgggcacgcctcaccagc	12	17	2	0	rs141790796		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7573225C>T	ENST00000361664.2	+	9	1568	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	476										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GGCTTCGTGCCCCTGGGCACG	0.582																																					p.P476L		Atlas-SNP	.											.	C19orf45	36	.	0			c.C1427T						PASS	.						42	41	41					19																	7573225		2203	4300	6503	SO:0001583	missense	374877	exon9			TCGTGCCCCTGGG	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1427C>T	19.37:g.7573225C>T	ENSP00000355241:p.Pro476Leu	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	139	10	0.0719424	NM_198534	Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530201	0.45073	.	.	ENSG00000198723	ENST00000361664	T	0.49139	0.79	4.15	3.09	0.35607	.	0.235290	0.36444	N	0.002596	T	0.43211	0.1237	M	0.63843	1.955	0.46798	D	0.999203	P	0.41597	0.756	B	0.39805	0.31	T	0.45702	-0.9243	10	0.87932	D	0	-24.0027	8.3255	0.32153	0.0:0.8889:0.0:0.1111	.	476	Q8NA69	CS045_HUMAN	L	476	ENSP00000355241:P476L	ENSP00000355241:P476L	P	+	2	0	C19orf45	7479225	0.647000	0.27304	0.555000	0.28281	0.064000	0.16182	1.178000	0.31981	1.090000	0.41315	0.462000	0.41574	CCC	C|1.000;A|0.000	.	alt		0.582	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		T	7573225	C	T	7573225	3	4	22	1	0	0	0	0	1	0	0	0	1928	623	22	2	1457	2	C19orf45	19	7573225	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26151	7573225	51555758	9452	14560										
ZNF358	140467	hgsc.bcm.edu	37	chr19	7585762	7585762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccactcgtggcactgtcaGcccagccctccctaccggcg	9	20	1	0	rs116797831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7585762G>C	ENST00000597229.1	+	2	1804	c.1634G>C	c.(1633-1635)aGc>aCc	p.S545T	ZNF358_ENST00000394341.2_Missense_Mutation_p.S545T|MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	545					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGCACTGTCAGCCCAGCCCTC	0.662													G|||	130	0.0259585	0.0938	0.0072	5008	,	,		16199	0.0		0.001	False		,,,				2504	0.0				p.S545T		Atlas-SNP	.											.	ZNF358	41	.	0			c.G1634C						PASS	.	G	THR/SER	369,4037	182.9+/-210.6	14,341,1848	88	70	76		1634	4	1	19	dbSNP_132	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF358	NM_018083.4	58	14,344,6145	CC,CG,GG		0.0349,8.3749,2.8602	possibly-damaging	545/569	7585762	372,12634	2203	4300	6503	SO:0001583	missense	140467	exon2			CTGTCAGCCCAGC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1634G>C	19.37:g.7585762G>C	ENSP00000472305:p.Ser545Thr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	207	117	0.565217	NM_018083	Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	G	14.68	2.606694	0.46527	0.083749	3.49E-4	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.04	4.04	0.47022	.	.	.	.	.	T	0.00412	0.0013	N	0.24115	0.695	0.24806	N	0.992677	B	0.22851	0.076	B	0.18263	0.021	T	0.20672	-1.0268	9	0.72032	D	0.01	.	14.4919	0.67657	0.0:0.0:1.0:0.0	.	545	Q9NW07	ZN358_HUMAN	T	545	ENSP00000377873:S545T	ENSP00000354703:S545T	S	+	2	0	ZNF358	7491762	0.463000	0.25799	0.996000	0.52242	0.375000	0.29983	2.534000	0.45676	2.547000	0.85894	0.655000	0.94253	AGC	G|0.977;C|0.023	0.023	strong		0.662	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			C	7585762	G	C	7585762	3	2	22	1	0	0	0	0	1	0	0	0	17864	971	34	4	1636	4	ZNF358	19	7585762	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12537	7585762	51543221	9453	14561										
KIAA1543	57662	hgsc.bcm.edu	37	chr19	7682267	7682267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgcctggaagccgcgaaCgggactgggaaaatggcagc	16	11	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7682267C>T	ENST00000160298.4	+	15	3369	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R1117W	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1090					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AAGCCGCGAACGGGACTGGGA	0.632																																					p.R1117W		Atlas-SNP	.											KIAA1543,NS,carcinoma,0,3	CAMSAP3	131	3	0			c.C3349T						scavenged	.						68	78	75					19																	7682267		2058	4183	6241	SO:0001583	missense	57662	exon17			CGCGAACGGGACT	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3268C>T	19.37:g.7682267C>T	ENSP00000160298:p.Arg1090Trp	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_001080429	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037847	0.54896	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16597	2.33;2.33	5.12	2.86	0.33363	.	0.087251	0.47455	D	0.000236	T	0.33352	0.0860	M	0.66939	2.045	0.09310	N	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.72625	0.95;0.798;0.978	T	0.03433	-1.1037	10	0.87932	D	0	-15.5721	6.5502	0.22429	0.2974:0.6148:0.0:0.0877	.	1101;1090;1117	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	W	1117;1090	ENSP00000416797:R1117W;ENSP00000160298:R1090W	ENSP00000160298:R1090W	R	+	1	2	KIAA1543	7588267	0.729000	0.28090	0.018000	0.16275	0.462000	0.32619	3.120000	0.50430	1.161000	0.42604	0.462000	0.41574	CGG	.	.	none		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		T	7682267	C	T	7682267	3	4	22	1	0	0	0	0	1	0	0	0	8243	527	19	1	3415	1	KIAA1543	19	7682267	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96505	7682267	51446716	9454	14562										
KIAA1543	57662	hgsc.bcm.edu	37	chr19	7682862	7682862	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaccatgtccatgagcgtCgatgccttcaccatccaggg	10	13	1	2	rs4134883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7682862C>G	ENST00000160298.4	+	17	3770	c.3669C>G	c.(3667-3669)gtC>gtG	p.V1223V	CAMSAP3_ENST00000446248.2_Silent_p.V1250V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1223	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCATGAGCGTCGATGCCTTCA	0.642													C|||	194	0.038738	0.1407	0.0115	5008	,	,		15396	0.0		0.0	False		,,,				2504	0.0				p.V1250V		Atlas-SNP	.											.	CAMSAP3	131	.	0			c.C3750G						PASS	.	C	,	540,3516		43,454,1531	52	59	57		3750,3669	0.3	1	19	dbSNP_108	57	2,8342		0,2,4170	no	coding-synonymous,coding-synonymous	CAMSAP3	NM_001080429.2,NM_020902.1	,	43,456,5701	GG,GC,CC		0.024,13.3136,4.371	,	1250/1277,1223/1250	7682862	542,11858	2028	4172	6200	SO:0001819	synonymous_variant	57662	exon19			GAGCGTCGATGCC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3669C>G	19.37:g.7682862C>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	96	42	0.4375	NM_001080429	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																			C|0.969;G|0.031	0.031	strong		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		G	7682862	C	G	7682862	2	3	22	1	0	0	0	0	0	0	0	1	8243	871	31	4		4	KIAA1543	19	7682862	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	595	7682862	51446121	9455	14563										
XAB2	56949	hgsc.bcm.edu	37	chr19	7684502	7684502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggctcccaaacactgcGgctggcacgctctgctgctc	10	16	2	0	rs4134869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7684502G>A	ENST00000358368.4	-	19	2575	c.2538C>T	c.(2536-2538)gcC>gcT	p.A846A	XAB2_ENST00000534844.1_Silent_p.A843A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	846					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAACACTGCGGCTGGCACGC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)					g|||	196	0.0391374	0.1415	0.0115	5008	,	,		8459	0.001		0.0	False		,,,				2504	0.0				p.A846A		Atlas-SNP	.											.	XAB2	69	.	0			c.C2538T						PASS	.			613,3789		55,503,1643	26	24	25		2538	-7.2	0.1	19	dbSNP_108	25	4,8592		0,4,4294	no	coding-synonymous	XAB2	NM_020196.2		55,507,5937	AA,AG,GG		0.0465,13.9255,4.7469		846/856	7684502	617,12381	2201	4298	6499	SO:0001819	synonymous_variant	56949	exon19			CACTGCGGCTGGC	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2538C>T	19.37:g.7684502G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	161	78	0.484472	NM_020196	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	CCDS32892.1																																																																																			G|0.944;A|0.056	0.056	strong		0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		A	7684502	G	A	7684502	2	1	22	1	0	0	0	0	0	0	0	1	17415	1103	39	1		1	XAB2	19	7684502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1640	7684502	51444481	9456	14564										
XAB2	56949	hgsc.bcm.edu	37	chr19	7692132	7692132	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacctgctaggctcaccttGaggaagcgccgatagcctcg	12	14	1	1	rs4134824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7692132G>A	ENST00000358368.4	-	4	556	c.519C>T	c.(517-519)ctC>ctT	p.L173L	PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.L170L|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000456958.3_5'Flank|PET100_ENST00000601406.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	173					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGCTCACCTTGAGGAAGCGCC	0.597								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	32	0.00638978	0.0242	0.0	5008	,	,		18719	0.0		0.0	False		,,,				2504	0.0				p.L173L		Atlas-SNP	.											.	XAB2	69	.	0			c.C519T						PASS	.	G		115,4291	87.3+/-125.9	2,111,2090	54	56	56		519	4	1	19	dbSNP_108	56	0,8600		0,0,4300	no	coding-synonymous	XAB2	NM_020196.2		2,111,6390	AA,AG,GG		0.0,2.6101,0.8842		173/856	7692132	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	56949	exon4			CACCTTGAGGAAG	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.519C>T	19.37:g.7692132G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	39	24	0.615385	NM_020196	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	CCDS32892.1																																																																																			G|0.990;A|0.010	0.010	strong		0.597	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		A	7692132	G	A	7692132	2	1	22	1	0	0	0	0	0	0	0	1	17415	1277	45	2		2	XAB2	19	7692132	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7630	7692132	51436851	9457	14565										
STXBP2	6813	hgsc.bcm.edu	37	chr19	7711221	7711221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaccccggtcatcaaggaTgtaatggaggtactgggtgg	16	7	2	0	rs10001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7711221T>C	ENST00000221283.5	+	16	1474	c.1443T>C	c.(1441-1443)gaT>gaC	p.D481D	STXBP2_ENST00000602355.1_Silent_p.D16D|STXBP2_ENST00000441779.2_Silent_p.D492D|STXBP2_ENST00000414284.2_Silent_p.D478D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	481					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCATCAAGGATGTAATGGAGG	0.667													C|||	2525	0.504193	0.5356	0.4669	5008	,	,		17100	0.7034		0.4036	False		,,,				2504	0.3865				p.D492D		Atlas-SNP	.											STXBP2,NS,adenoma,0,1	STXBP2	63	1	0			c.T1476C						scavenged	.	C	,	2187,2217		534,1119,549	35	29	31		1434,1443	-3.7	0.9	19	dbSNP_52	31	3217,5383		585,2047,1668	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	1119,3166,2217	CC,CT,TT		37.407,49.6594,41.5564	,	478/591,481/594	7711221	5404,7600	2202	4300	6502	SO:0001819	synonymous_variant	6813	exon16			CAAGGATGTAATG	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1443T>C	19.37:g.7711221T>C		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	152	73	0.480263	NM_001272034	B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	CCDS12181.1																																																																																			T|0.548;C|0.452	0.452	strong		0.667	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		C	7711221	T	C	7711221	2	2	22	1	0	0	0	0	0	0	0	1	15352	1461	51	2		2	STXBP2	19	7711221	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19089	7711221	51417762	9458	14566										
TRAPPC5	126003	hgsc.bcm.edu	37	chr19	7747445	7747445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgctcttcggcaaggaggcGgacaagctggagcaggccaa	16	11	1	0	rs1053363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7747445G>A	ENST00000317378.5	+	2	493	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TRAPPC5_ENST00000426877.2_Silent_p.A102A|TRAPPC5_ENST00000595985.1_Silent_p.A35A|TRAPPC5_ENST00000596148.1_Silent_p.A102A|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	102					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						GCAAGGAGGCGGACAAGCTGG	0.632													G|||	1217	0.243011	0.4274	0.1326	5008	,	,		13972	0.127		0.174	False		,,,				2504	0.2628				p.A102A		Atlas-SNP	.											.	TRAPPC5	11	.	0			c.G306A						PASS	.	G	,,	1729,2653		355,1019,817	37	41	39		306,306,306	-8.2	0.6	19	dbSNP_86	39	1408,7148		106,1196,2976	no	coding-synonymous,coding-synonymous,coding-synonymous	TRAPPC5	NM_001042461.1,NM_001042462.1,NM_174894.1	,,	461,2215,3793	AA,AG,GG		16.4563,39.4569,24.2464	,,	102/189,102/189,102/189	7747445	3137,9801	2191	4278	6469	SO:0001819	synonymous_variant	126003	exon2			GGAGGCGGACAAG	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.306G>A	19.37:g.7747445G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	65	41	0.630769	NM_001042461	A8K7I6	Silent	SNP	ENST00000317378.5	37	CCDS42490.1																																																																																			T|0.000;G|0.798;C|0.000;A|0.202	0.202	strong		0.632	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		A	7747445	G	A	7747445	2	1	22	1	0	0	0	0	0	0	0	1	16459	1103	39	1		1	TRAPPC5	19	7747445	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36224	7747445	51381538	9459	14567										
FCER2	2208	hgsc.bcm.edu	37	chr19	7754101	7754101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagtggagaggggcagagGgggtgggcaggcggccgtca	23	6	1	3	rs34694289	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7754101G>A	ENST00000346664.5	-	11	1156	c.944C>T	c.(943-945)cCc>cTc	p.P315L	FCER2_ENST00000597921.1_Missense_Mutation_p.P315L|FCER2_ENST00000360067.4_Missense_Mutation_p.P314L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	315					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						AGGGGCAGAGGGGGTGGGCAG	0.637													G|||	51	0.0101837	0.0386	0.0	5008	,	,		14053	0.0		0.0	False		,,,				2504	0.0				p.P315L		Atlas-SNP	.											.	FCER2	19	.	0			c.C944T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO	130,4276	87.3+/-125.9	4,122,2077	33	32	32		941,944,944	-0.9	0	19	dbSNP_126	32	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	FCER2	NM_001207019.2,NM_001220500.1,NM_002002.4	98,98,98	4,123,6376	AA,AG,GG		0.0116,2.9505,1.0072	probably-damaging,probably-damaging,probably-damaging	314/321,315/322,315/322	7754101	131,12875	2203	4300	6503	SO:0001583	missense	2208	exon11			GCAGAGGGGGTGG	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.944C>T	19.37:g.7754101G>A	ENSP00000264072:p.Pro315Leu	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	235	138	0.587234	NM_002002		Missense_Mutation	SNP	ENST00000346664.5	37	CCDS12184.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	12.45	1.942513	0.34283	0.029505	1.16E-4	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.04156	3.69;3.71	2.72	-0.925	0.10458	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.44544	-0.9321	9	0.87932	D	0	.	4.2641	0.10754	0.1588:0.4449:0.3963:0.0	rs34694289	315	P06734	FCER2_HUMAN	L	315;314	ENSP00000264072:P315L;ENSP00000353178:P314L	ENSP00000264072:P315L	P	-	2	0	FCER2	7660101	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.171000	0.09883	0.008000	0.14787	0.298000	0.19748	CCC	G|0.990;A|0.010	0.010	strong		0.637	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		A	7754101	G	A	7754101	3	1	22	1	0	0	0	0	1	0	0	0	5776	1232	43	2	25	2	FCER2	19	7754101	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6656	7754101	51374882	9460	14568										
EVI5L	115704	hgsc.bcm.edu	37	chr19	7914022	7914022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccaggaggtcctcttcaaCgtcatgaaggtgaggcccag	14	11	3	2	rs554853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7914022C>T	ENST00000270530.4	+	4	739	c.543C>T	c.(541-543)aaC>aaT	p.N181N	EVI5L_ENST00000538904.2_Silent_p.N181N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	181	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCTCTTCAACGTCATGAAGG	0.647													C|||	83	0.0165735	0.0567	0.0101	5008	,	,		19132	0.0		0.001	False		,,,				2504	0.0				p.N181N		Atlas-SNP	.											.	EVI5L	43	.	0			c.C543T						PASS	.	C	,	232,4172	131.4+/-167.9	8,216,1978	34	30	32		543,543	-7.8	0.7	19	dbSNP_83	32	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous,coding-synonymous	EVI5L	NM_001159944.1,NM_145245.3	,	8,221,6273	TT,TC,CC		0.0581,5.2679,1.8225	,	181/806,181/795	7914022	237,12767	2202	4300	6502	SO:0001819	synonymous_variant	115704	exon3			CTTCAACGTCATG	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.543C>T	19.37:g.7914022C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	73	34	0.465753	NM_001159944	B9A6I9	Silent	SNP	ENST00000270530.4	37	CCDS12188.1																																																																																			C|0.984;T|0.016	0.016	strong		0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		T	7914022	C	T	7914022	2	4	22	1	0	0	0	0	0	0	0	1	5290	535	19	1		1	EVI5L	19	7914022	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159921	7914022	51214961	9461	14569										
LRRC8E	80131	hgsc.bcm.edu	37	chr19	7963948	7963948	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaagggcccagcagccaccGaacgggctgcggccaccata					rs3745379|rs386806520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7963948G>A	ENST00000306708.6	+	3	642	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	181			E -> G (in dbSNP:rs2042919).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCAGCCACCGAACGGGCTGC	0.637													G|||	229	0.0457268	0.1029	0.0086	5008	,	,		17200	0.0833		0.0	False		,,,				2504	0.0031				p.E181K		Atlas-SNP	.											.	LRRC8E	67	.	0			c.G541A						PASS	.																																			SO:0001583	missense	80131	exon4			GCCACCGAACGGG		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.541G>A	19.37:g.7963948G>A	ENSP00000306524:p.Glu181Lys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_001268284	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	CCDS12189.1	109	0.04990842490842491	54	0.10975609756097561	5	0.013812154696132596	50	0.08741258741258741	0	0.0	G	0.005	-2.195360	0.00299	.	.	ENSG00000171017	ENST00000306708	T	0.26223	1.75	5.19	3.03	0.35002	.	0.468333	0.23620	N	0.046258	T	0.00178	0.0005	N	0.08118	0	0.80722	P	0.0	B	0.22146	0.065	B	0.06405	0.002	T	0.28618	-1.0038	9	0.05525	T	0.97	.	5.1411	0.14959	0.1786:0.1724:0.649:0.0	rs3745379	181	Q6NSJ5	LRC8E_HUMAN	K	181	ENSP00000306524:E181K	ENSP00000306524:E181K	E	+	1	0	LRRC8E	7869948	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.333000	0.19768	0.751000	0.32900	0.655000	0.94253	GAA	G|0.950;A|0.050	0.050	strong		0.637	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		A	7963948	G	A	7963948	3	1	22	1	0	0	0	0	1	0	0	0	9025	1059	37	1	547	1	LRRC8E	19	7963948	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49926	7963948	51165035	9462	14570	299	2								
LRRC8E	80131	hgsc.bcm.edu	37	chr19	7963949	7963949	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagggcccagcagccaccgAacgggctgcggccaccatag					rs386806520|rs2042919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7963949A>G	ENST00000306708.6	+	3	643	c.542A>G	c.(541-543)gAa>gGa	p.E181G	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	181			E -> G (in dbSNP:rs2042919).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCAGCCACCGAACGGGCTGCG	0.642													G|||	1166	0.232827	0.323	0.183	5008	,	,		17165	0.2292		0.2425	False		,,,				2504	0.1401				p.E181G		Atlas-SNP	.											.	LRRC8E	67	.	0			c.A542G						PASS	.	G	GLY/GLU	1068,3336		204,660,1338	30	38	36		542	4.1	0	19	dbSNP_94	36	2087,6509		274,1539,2485	no	missense	LRRC8E	NM_025061.3	98	478,2199,3823	GG,GA,AA		24.2787,24.2507,24.2692	benign	181/797	7963949	3155,9845	2202	4298	6500	SO:0001583	missense	80131	exon4			CCACCGAACGGGC		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.542A>G	19.37:g.7963949A>G	ENSP00000306524:p.Glu181Gly	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_001268284	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	CCDS12189.1	546	0.25	173	0.3516260162601626	63	0.17403314917127072	132	0.23076923076923078	178	0.23482849604221637	G	0.069	-1.206104	0.01568	0.242507	0.242787	ENSG00000171017	ENST00000306708	T	0.27890	1.64	5.19	4.14	0.48551	.	0.468333	0.23620	N	0.046258	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	P	0.40875	0.731	B	0.36464	0.225	T	0.46638	-0.9177	9	0.22109	T	0.4	.	5.5225	0.16941	0.171:0.1642:0.6648:0.0	rs2042919;rs3745380;rs60626324	181	Q6NSJ5	LRC8E_HUMAN	G	181	ENSP00000306524:E181G	ENSP00000306524:E181G	E	+	2	0	LRRC8E	7869949	0.001000	0.12720	0.009000	0.14445	0.002000	0.02628	1.315000	0.33608	0.785000	0.33685	-0.802000	0.03209	GAA	A|0.759;G|0.241	0.241	strong		0.642	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		G	7963949	A	G	7963949	3	3	22	1	0	0	0	0	1	0	0	0	9025	246	9	2	548	2	LRRC8E	19	7963949	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	7963949	51165034	9463	14571	299	2								
LRRC8E	80131	hgsc.bcm.edu	37	chr19	7963976	7963976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggccaccatagtggccaTggcagggaccgggccgggga	18	12	0	0	rs2115108	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7963976T>C	ENST00000306708.6	+	3	670	c.569T>C	c.(568-570)aTg>aCg	p.M190T	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	190			M -> T (in dbSNP:rs2115108). {ECO:0000269|PubMed:17974005}.		ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						ATAGTGGCCATGGCAGGGACC	0.652													C|||	1407	0.28095	0.3563	0.2046	5008	,	,		17043	0.2629		0.325	False		,,,				2504	0.2065				p.M190T		Atlas-SNP	.											.	LRRC8E	67	.	0			c.T569C						PASS	.	C	THR/MET	1520,2864		277,966,949	28	36	33		569	-0.7	0	19	dbSNP_96	33	2638,5940		427,1784,2078	no	missense	LRRC8E	NM_025061.3	81	704,2750,3027	CC,CT,TT		30.7531,34.6715,32.0784	benign	190/797	7963976	4158,8804	2192	4289	6481	SO:0001583	missense	80131	exon4			TGGCCATGGCAGG		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.569T>C	19.37:g.7963976T>C	ENSP00000306524:p.Met190Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_001268284	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	CCDS12189.1	659	0.3017399267399267	195	0.39634146341463417	73	0.20165745856353592	155	0.270979020979021	236	0.3113456464379947	C	0.004	-2.370692	0.00209	0.346715	0.307531	ENSG00000171017	ENST00000306708	T	0.24908	1.83	5.19	-0.706	0.11249	.	1.138340	0.06349	N	0.709546	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	9	0.13108	T	0.6	.	1.9981	0.03461	0.1299:0.4175:0.1272:0.3253	rs2115108;rs3745381;rs60796256	190	Q6NSJ5	LRC8E_HUMAN	T	190	ENSP00000306524:M190T	ENSP00000306524:M190T	M	+	2	0	LRRC8E	7869976	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.295000	0.19065	-0.101000	0.12219	-0.735000	0.03563	ATG	T|0.676;C|0.324	0.324	strong		0.652	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		C	7963976	T	C	7963976	3	2	22	1	0	0	0	0	1	0	0	0	9025	1464	51	2	575	2	LRRC8E	19	7963976	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27	7963976	51165007	9464	14572										
LRRC8E	80131	hgsc.bcm.edu	37	chr19	7965669	7965669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccgcctggagctcaaaggCaaccgcttagaggcgctgcc	13	14	1	1	rs3745385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7965669C>T	ENST00000306708.6	+	3	2363	c.2262C>T	c.(2260-2262)ggC>ggT	p.G754G	AC010336.1_ENST00000539278.1_5'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	754					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCTCAAAGGCAACCGCTTAG	0.652													C|||	228	0.0455272	0.1029	0.0086	5008	,	,		16095	0.0823		0.0	False		,,,				2504	0.0031				p.G754G		Atlas-SNP	.											.	LRRC8E	67	.	0			c.C2262T						PASS	.	C		407,3999		17,373,1813	35	40	38		2262	-1.9	1	19	dbSNP_107	38	8,8592		0,8,4292	no	coding-synonymous	LRRC8E	NM_025061.3		17,381,6105	TT,TC,CC		0.093,9.2374,3.1908		754/797	7965669	415,12591	2203	4300	6503	SO:0001819	synonymous_variant	80131	exon4			CAAAGGCAACCGC		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2262C>T	19.37:g.7965669C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	162	89	0.549383	NM_001268284	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																			C|0.956;T|0.044	0.044	strong		0.652	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7965669	C	T	7965669	2	4	22	1	0	0	0	0	0	0	0	1	9025	697	25	2		2	LRRC8E	19	7965669	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1693	7965669	51163314	9465	14573										
SNAPC2	6618	hgsc.bcm.edu	37	chr19	7987428	7987428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatgacggagacgtacctaCgcctgacagccccccagccc	9	17	0	3	rs116635738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:7987428C>T	ENST00000221573.6	+	5	835	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	SNAPC2_ENST00000597584.1_Missense_Mutation_p.R25C	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	262					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GACGTACCTACGCCTGACAGC	0.657													C|||	54	0.0107827	0.0356	0.0072	5008	,	,		16883	0.0		0.0	False		,,,				2504	0.002				p.R262C		Atlas-SNP	.											SNAPC2,colon,carcinoma,0,1	SNAPC2	20	1	0			c.C784T						PASS	.	C	CYS/ARG	140,4266	100.3+/-138.9	1,138,2064	71	70	70		784	2.2	0	19	dbSNP_132	70	4,8596	3.0+/-9.4	0,4,4296	yes	missense	SNAPC2	NM_003083.3	180	1,142,6360	TT,TC,CC		0.0465,3.1775,1.1072	possibly-damaging	262/335	7987428	144,12862	2203	4300	6503	SO:0001583	missense	6618	exon5			TACCTACGCCTGA	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.784C>T	19.37:g.7987428C>T	ENSP00000221573:p.Arg262Cys	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_003083	B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	CCDS12190.1	19	0.0086996336996337	16	0.032520325203252036	3	0.008287292817679558	0	0.0	0	0.0	c	14.33	2.503755	0.44558	0.031775	4.65E-4	ENSG00000104976	ENST00000221573	T	0.48836	0.8	4.44	2.15	0.27550	.	1.239960	0.05573	N	0.571328	T	0.19287	0.0463	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	P	0.48227	0.571	T	0.30966	-0.9960	10	0.72032	D	0.01	-0.7906	8.8971	0.35472	0.4346:0.5654:0.0:0.0	.	262	Q13487	SNPC2_HUMAN	C	262	ENSP00000221573:R262C	ENSP00000221573:R262C	R	+	1	0	SNAPC2	7893428	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.478000	0.22212	1.074000	0.40909	-0.509000	0.04479	CGC	C|0.991;T|0.009	0.009	strong		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		T	7987428	C	T	7987428	3	4	22	1	0	0	0	0	1	0	0	0	14835	536	19	1	802	1	SNAPC2	19	7987428	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21759	7987428	51141555	9466	14574										
FBN3	84467	hgsc.bcm.edu	37	chr19	8137052	8137052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccggggtgtcctggggtccGgggctgaagcccaggccgga	19	12	0	1	rs10420783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8137052G>A	ENST00000600128.1	-	63	8382	c.7968C>T	c.(7966-7968)ccC>ccT	p.P2656P	FBN3_ENST00000601739.1_Silent_p.P2656P|FBN3_ENST00000270509.2_Silent_p.P2656P			Q75N90	FBN3_HUMAN	fibrillin 3	2656						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGGGTCCGGGGCTGAAGC	0.672													G|||	256	0.0511182	0.1846	0.0173	5008	,	,		19707	0.0		0.0	False		,,,				2504	0.0				p.P2656P		Atlas-SNP	.											.	FBN3	300	.	0			c.C7968T						PASS	.	G		653,3753	279.0+/-274.6	45,563,1595	99	107	104		7968	-7.2	0	19	dbSNP_119	104	12,8588	7.7+/-29.5	0,12,4288	no	coding-synonymous	FBN3	NM_032447.3		45,575,5883	AA,AG,GG		0.1395,14.8207,5.113		2656/2810	8137052	665,12341	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon62			GGGTCCGGGGCTG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7968C>T	19.37:g.8137052G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.949;A|0.051	0.051	strong		0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8137052	G	A	8137052	2	1	22	1	0	0	0	0	0	0	0	1	5704	1103	39	1		1	FBN3	19	8137052	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149624	8137052	50991931	9467	14575										
FBN3	84467	hgsc.bcm.edu	37	chr19	8150353	8150353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccccagccccggccaccCccacagcagcactcggccct	9	24	0	0	rs61729617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8150353C>T	ENST00000600128.1	-	56	7395	c.6981G>A	c.(6979-6981)ggG>ggA	p.G2327G	FBN3_ENST00000601739.1_Silent_p.G2327G|FBN3_ENST00000270509.2_Silent_p.G2327G			Q75N90	FBN3_HUMAN	fibrillin 3	2327	TB 9.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCGGCCACCCCCACAGCAGC	0.692													C|||	204	0.0407348	0.1445	0.0187	5008	,	,		14856	0.0		0.0	False		,,,				2504	0.0				p.G2327G		Atlas-SNP	.											.	FBN3	300	.	0			c.G6981A						PASS	.	C		418,3948		15,388,1780	9	11	10		6981	3.6	0.8	19	dbSNP_129	10	8,8498		0,8,4245	no	coding-synonymous	FBN3	NM_032447.3		15,396,6025	TT,TC,CC		0.0941,9.574,3.3095		2327/2810	8150353	426,12446	2183	4253	6436	SO:0001819	synonymous_variant	84467	exon55			GCCACCCCCACAG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6981G>A	19.37:g.8150353C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	47	21	0.446809	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			C|0.967;T|0.033	0.033	strong		0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8150353	C	T	8150353	2	4	22	1	0	0	0	0	0	0	0	1	5704	610	22	2		2	FBN3	19	8150353	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13301	8150353	50978630	9468	14576										
FBN3	84467	hgsc.bcm.edu	37	chr19	8150393	8150393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgacagcctcactgctgCtggacagagaccggcacatg	13	12	1	2	rs17160151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8150393C>T	ENST00000600128.1	-	56	7355	c.6941G>A	c.(6940-6942)aGc>aAc	p.S2314N	FBN3_ENST00000601739.1_Missense_Mutation_p.S2314N|FBN3_ENST00000270509.2_Missense_Mutation_p.S2314N			Q75N90	FBN3_HUMAN	fibrillin 3	2314	TB 9.		S -> N (in dbSNP:rs17160151).			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACTGCTGCTGGACAGAGA	0.672													C|||	349	0.0696885	0.2549	0.0159	5008	,	,		15574	0.0		0.001	False		,,,				2504	0.0				p.S2314N		Atlas-SNP	.											.	FBN3	300	.	0			c.G6941A						PASS	.	C	ASN/SER	998,3396		110,778,1309	12	13	12		6941	2.3	0	19	dbSNP_123	12	19,8551		1,17,4267	yes	missense	FBN3	NM_032447.3	46	111,795,5576	TT,TC,CC		0.2217,22.7128,7.8448	probably-damaging	2314/2810	8150393	1017,11947	2197	4285	6482	SO:0001583	missense	84467	exon55			CTGCTGCTGGACA		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6941G>A	19.37:g.8150393C>T	ENSP00000470498:p.Ser2314Asn	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	139	0.06364468864468864	134	0.27235772357723576	4	0.011049723756906077	1	0.0017482517482517483	0	0.0	C	16.20	3.056882	0.55325	0.227128	0.002217	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.90844	-2.74	4.72	2.31	0.28768	Matrix fibril-associated (2);TGF-beta binding (1);	0.056067	0.64402	U	0.000001	T	0.00144	0.0004	M	0.73962	2.25	0.37731	P	0.07474400000000003	D;P	0.71674	0.998;0.896	D;P	0.83275	0.996;0.596	T	0.00000	-1.2854	9	0.31617	T	0.26	.	13.4093	0.60933	0.0:0.5983:0.4017:0.0	rs17160151;rs17160151	2314;420	Q75N90;Q6ZNB8	FBN3_HUMAN;.	N	2314;420	ENSP00000270509:S2314N	ENSP00000270509:S2314N	S	-	2	0	FBN3	8056393	1.000000	0.71417	0.041000	0.18516	0.142000	0.21351	1.586000	0.36611	2.170000	0.68504	0.491000	0.48974	AGC	C|0.903;T|0.097	0.097	strong		0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8150393	C	T	8150393	3	4	22	1	0	0	0	0	1	0	0	0	5704	797	28	2	1524	2	FBN3	19	8150393	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40	8150393	50978590	9469	14577										
FBN3	84467	hgsc.bcm.edu	37	chr19	8150428	8150428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatggtctgcagcacctcGgcaaagcagggcccctgccg	12	16	1	0	rs34514496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8150428G>A	ENST00000600128.1	-	56	7320	c.6906C>T	c.(6904-6906)gcC>gcT	p.A2302A	FBN3_ENST00000601739.1_Silent_p.A2302A|FBN3_ENST00000270509.2_Silent_p.A2302A			Q75N90	FBN3_HUMAN	fibrillin 3	2302	TB 9.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGCACCTCGGCAAAGCAGG	0.647													G|||	228	0.0455272	0.1619	0.0202	5008	,	,		15702	0.0		0.0	False		,,,				2504	0.0				p.A2302A		Atlas-SNP	.											.	FBN3	300	.	0			c.C6906T						PASS	.	G		536,3858		22,492,1683	11	12	12		6906	-6.9	0.9	19	dbSNP_126	12	13,8555		0,13,4271	no	coding-synonymous	FBN3	NM_032447.3		22,505,5954	AA,AG,GG		0.1517,12.1985,4.2355		2302/2810	8150428	549,12413	2197	4284	6481	SO:0001819	synonymous_variant	84467	exon55			CACCTCGGCAAAG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6906C>T	19.37:g.8150428G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.956;A|0.044	0.044	strong		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8150428	G	A	8150428	2	1	22	1	0	0	0	0	0	0	0	1	5704	1103	39	1		1	FBN3	19	8150428	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35	8150428	50978555	9470	14578										
FBN3	84467	hgsc.bcm.edu	37	chr19	8171068	8171068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactgccaaacgtgttgacGcagtcacccccctgacacag	8	15	1	2	rs7258713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8171068G>A	ENST00000600128.1	-	38	5151	c.4737C>T	c.(4735-4737)tgC>tgT	p.C1579C	FBN3_ENST00000601739.1_Silent_p.C1579C|FBN3_ENST00000270509.2_Silent_p.C1579C			Q75N90	FBN3_HUMAN	fibrillin 3	1579	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACGTGTTGACGCAGTCACCCC	0.572													G|||	366	0.0730831	0.2428	0.0202	5008	,	,		20054	0.0		0.003	False		,,,				2504	0.0286				p.C1579C		Atlas-SNP	.											.	FBN3	300	.	0			c.C4737T						PASS	.	G		836,3570	331.5+/-302.0	86,664,1453	120	85	97		4737	0.9	0.8	19	dbSNP_116	97	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	FBN3	NM_032447.3		86,689,5728	AA,AG,GG		0.2907,18.9741,6.62		1579/2810	8171068	861,12145	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon37			GTTGACGCAGTCA		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4737C>T	19.37:g.8171068G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.925;A|0.075	0.075	strong		0.572	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8171068	G	A	8171068	2	1	22	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8171068	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20640	8171068	50957915	9471	14579										
FBN3	84467	hgsc.bcm.edu	37	chr19	8176919	8176919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctacagctgaaactcccCgggatgttgagacaggaggc	12	12	0	2	rs4804264	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8176919C>T	ENST00000600128.1	-	31	4317	c.3903G>A	c.(3901-3903)ccG>ccA	p.P1301P	FBN3_ENST00000601739.1_Silent_p.P1301P|FBN3_ENST00000270509.2_Silent_p.P1301P			Q75N90	FBN3_HUMAN	fibrillin 3	1301	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAAACTCCCCGGGATGTTGA	0.597													C|||	3452	0.689297	0.6604	0.719	5008	,	,		12420	0.7847		0.5298	False		,,,				2504	0.773				p.P1301P		Atlas-SNP	.											.	FBN3	300	.	0			c.G3903A						PASS	.	C		2841,1565	668.8+/-402.1	923,995,285	142	121	128		3903	-8.7	0.1	19	dbSNP_111	128	4495,4105	591.7+/-392.9	1154,2187,959	no	coding-synonymous	FBN3	NM_032447.3		2077,3182,1244	TT,TC,CC		47.7326,35.5197,43.5953		1301/2810	8176919	7336,5670	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon30			ACTCCCCGGGATG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3903G>A	19.37:g.8176919C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	185	80	0.432432	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			C|0.388;N|0.000	.	strong		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8176919	C	T	8176919	2	4	22	1	0	0	0	0	0	0	0	1	5704	639	23	1		1	FBN3	19	8176919	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5851	8176919	50952064	9472	14580										
FBN3	84467	hgsc.bcm.edu	37	chr19	8196499	8196499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtggtccggattggcacaGcagcactcggacttggtgac	14	12	0	1	rs3813774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8196499G>A	ENST00000600128.1	-	15	2343	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C	FBN3_ENST00000601739.1_Silent_p.C643C|FBN3_ENST00000270509.2_Silent_p.C643C			Q75N90	FBN3_HUMAN	fibrillin 3	643	TB 3.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATTGGCACAGCAGCACTCGG	0.652													G|||	690	0.13778	0.2103	0.0533	5008	,	,		16673	0.2262		0.0805	False		,,,				2504	0.0675				p.C643C		Atlas-SNP	.											.	FBN3	300	.	0			c.C1929T						PASS	.	G		783,3623	314.7+/-293.7	64,655,1484	59	60	60		1929	1.6	0.9	19	dbSNP_107	60	504,8096	144.7+/-200.5	16,472,3812	no	coding-synonymous	FBN3	NM_032447.3		80,1127,5296	AA,AG,GG		5.8605,17.7712,9.8954		643/2810	8196499	1287,11719	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon14			GGCACAGCAGCAC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1929C>T	19.37:g.8196499G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	220	102	0.463636	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.878;A|0.122	0.122	strong		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8196499	G	A	8196499	2	1	22	1	0	0	0	0	0	0	0	1	5704	963	34	2		2	FBN3	19	8196499	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19580	8196499	50932484	9473	14581										
FBN3	84467	hgsc.bcm.edu	37	chr19	8196643	8196643	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccccccaggcactggcaGcggaaggagccctcggtgtt					rs61744943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8196643G>A	ENST00000600128.1	-	15	2199	c.1785C>T	c.(1783-1785)cgC>cgT	p.R595R	FBN3_ENST00000601739.1_Silent_p.R595R|FBN3_ENST00000270509.2_Silent_p.R595R			Q75N90	FBN3_HUMAN	fibrillin 3	595	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCACTGGCAGCGGAAGGAGC	0.677													G|||	734	0.146565	0.3684	0.1326	5008	,	,		15157	0.001		0.0944	False		,,,				2504	0.0603				p.R595R		Atlas-SNP	.											.	FBN3	300	.	0			c.C1785T						PASS	.	G		1420,2986		240,940,1023	22	22	22		1785	1.9	0.8	19	dbSNP_129	22	940,7656		58,824,3416	no	coding-synonymous	FBN3	NM_032447.3		298,1764,4439	AA,AG,GG		10.9353,32.2288,18.1511		595/2810	8196643	2360,10642	2203	4298	6501	SO:0001819	synonymous_variant	84467	exon14			CTGGCAGCGGAAG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1785C>T	19.37:g.8196643G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	177	81	0.457627	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.823;A|0.177	0.177	strong		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8196643	G	A	8196643	2	1	22	1	0	0	0	0	0	0	0	1	5704	958	34	2		2	FBN3	19	8196643	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	144	8196643	50932340	9474	14582	300	2								
FBN3	84467	hgsc.bcm.edu	37	chr19	8196645	8196645	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccccccaggcactggcagcGgaaggagccctcggtgttgg					rs61729592	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8196645G>A	ENST00000600128.1	-	15	2197	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	FBN3_ENST00000601739.1_Missense_Mutation_p.R595C|FBN3_ENST00000270509.2_Missense_Mutation_p.R595C			Q75N90	FBN3_HUMAN	fibrillin 3	595	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTGGCAGCGGAAGGAGCCC	0.672													G|||	11	0.00219649	0.0083	0.0	5008	,	,		15081	0.0		0.0	False		,,,				2504	0.0				p.R595C		Atlas-SNP	.											.	FBN3	300	.	0			c.C1783T						PASS	.	G	CYS/ARG	23,4383		0,23,2180	22	23	22		1783	3	0.9	19	dbSNP_129	22	1,8595		0,1,4297	yes	missense	FBN3	NM_032447.3	180	0,24,6477	AA,AG,GG		0.0116,0.522,0.1846	probably-damaging	595/2810	8196645	24,12978	2203	4298	6501	SO:0001583	missense	84467	exon14			GGCAGCGGAAGGA		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1783C>T	19.37:g.8196645G>A	ENSP00000470498:p.Arg595Cys	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	181	96	0.530387	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	13.30	2.197312	0.38806	0.00522	1.16E-4	ENSG00000142449	ENST00000270509	D	0.92545	-3.06	3.02	3.02	0.34903	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.063744	0.64402	U	0.000009	D	0.93419	0.7901	M	0.85041	2.73	0.52501	D	0.999955	D	0.65815	0.995	P	0.58077	0.832	D	0.93900	0.7187	10	0.87932	D	0	.	13.9673	0.64216	0.0:0.0:1.0:0.0	.	595	Q75N90	FBN3_HUMAN	C	595	ENSP00000270509:R595C	ENSP00000270509:R595C	R	-	1	0	FBN3	8102645	0.999000	0.42202	0.856000	0.33681	0.121000	0.20230	2.263000	0.43293	1.227000	0.43598	0.185000	0.17295	CGC	G|0.996;A|0.004	0.004	strong		0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8196645	G	A	8196645	3	1	22	1	0	0	0	0	1	0	0	0	5704	1116	39	1	6846	1	FBN3	19	8196645	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	8196645	50932338	9475	14583	300	2								
LASS4	79603	hgsc.bcm.edu	37	chr19	8321946	8321946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgttacacgattcctcTgactacctgctggaggtggg	12	11	1	1	rs36247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8321946T>C	ENST00000251363.5	+	9	1026	c.726T>C	c.(724-726)tcT>tcC	p.S242S	CERS4_ENST00000558331.1_Silent_p.S191S|CERS4_ENST00000559450.1_Silent_p.S242S|CERS4_ENST00000559336.1_Silent_p.S242S|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	242	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACGATTCCTCTGACTACCTGC	0.602													C|||	2191	0.4375	0.4259	0.3862	5008	,	,		17309	0.4504		0.328	False		,,,				2504	0.589				p.S242S		Atlas-SNP	.											.	.	.	.	0			c.T726C						PASS	.	C		1879,2527	630.2+/-395.4	415,1049,739	223	210	214		726	-9.5	0	19	dbSNP_76	214	2769,5831	678.9+/-403.5	449,1871,1980	no	coding-synonymous	CERS4	NM_024552.2		864,2920,2719	CC,CT,TT		32.1977,42.6464,35.7374		242/395	8321946	4648,8358	2203	4300	6503	SO:0001819	synonymous_variant	79603	exon9			TTCCTCTGACTAC		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.726T>C	19.37:g.8321946T>C		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_024552	D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																			T|0.623;C|0.376	0.376	strong		0.602	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		C	8321946	T	C	8321946	2	2	22	1	0	0	0	0	0	0	0	1	8641	1567	55	3		3	LASS4	19	8321946	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	125301	8321946	50807037	9476	14584										
KANK3	256949	hgsc.bcm.edu	37	chr19	8389405	8389405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcctgctcagcctccagGgcgatggccagggcactggt	13	14	2	0	rs12981073	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8389405G>A	ENST00000593649.1	-	10	2375	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	KANK3_ENST00000330915.3_Silent_p.A770A			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	770										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGCCTCCAGGGCGATGGCCA	0.632													G|||	769	0.153554	0.295	0.1383	5008	,	,		18814	0.0655		0.1223	False		,,,				2504	0.0961				p.A770A		Atlas-SNP	.											.	KANK3	35	.	0			c.C2310T						PASS	.	G		1101,3305	379.2+/-323.2	134,833,1236	26	26	26		2310	1.2	1	19	dbSNP_121	26	1053,7547	214.2+/-253.9	70,913,3317	no	coding-synonymous	KANK3	NM_198471.2		204,1746,4553	AA,AG,GG		12.2442,24.9887,16.5616		770/822	8389405	2154,10852	2203	4300	6503	SO:0001819	synonymous_variant	256949	exon10			CTCCAGGGCGATG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2310C>T	19.37:g.8389405G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	152	74	0.486842	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				G|0.840;A|0.159	0.159	strong		0.632	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		A	8389405	G	A	8389405	2	1	22	1	0	0	0	0	0	0	0	1	7978	1219	43	2		2	KANK3	19	8389405	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67459	8389405	50739578	9477	14585										
KANK3	256949	hgsc.bcm.edu	37	chr19	8399272	8399272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttgggcaccaggtgtgccGtctctcttcttcatgatgga	13	10	4	1	rs8106699	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8399272G>A	ENST00000593649.1	-	4	1424	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	KANK3_ENST00000330915.3_Silent_p.D453D			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	453										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGTGTGCCGTCTCTCTTCT	0.622													G|||	650	0.129792	0.2413	0.1239	5008	,	,		16175	0.0327		0.1153	False		,,,				2504	0.0982				p.D453D		Atlas-SNP	.											.	KANK3	35	.	0			c.C1359T						PASS	.	G		923,3483	351.3+/-311.2	89,745,1369	55	54	54		1359	-4.9	0	19	dbSNP_116	54	972,7626	212.0+/-252.4	67,838,3394	no	coding-synonymous	KANK3	NM_198471.2		156,1583,4763	AA,AG,GG		11.305,20.9487,14.5724		453/822	8399272	1895,11109	2203	4299	6502	SO:0001819	synonymous_variant	256949	exon4			TGTGCCGTCTCTC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1359C>T	19.37:g.8399272G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				G|0.859;A|0.141	0.141	strong		0.622	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		A	8399272	G	A	8399272	2	1	22	1	0	0	0	0	0	0	0	1	7978	1136	40	1		1	KANK3	19	8399272	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9867	8399272	50729711	9478	14586										
PRAM1	84106	hgsc.bcm.edu	37	chr19	8564288	8564288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttggaaacggagtggccCccagctgtgggaacttcttg	13	11	1	0	rs58466313	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8564288C>T	ENST00000423345.4	-	2	924	c.404G>A	c.(403-405)gGg>gAg	p.G135E	PRAM1_ENST00000255612.3_Missense_Mutation_p.G135E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	183	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGAGTGGCCCCCAGCTGTGG	0.657													T|||	813	0.16234	0.5802	0.0519	5008	,	,		12320	0.0		0.004	False		,,,				2504	0.0061				p.G135E		Atlas-SNP	.											.	PRAM1	53	.	0			c.G404A						PASS	.	T	GLU/GLY	1453,2153		274,905,624	35	39	38		404	3.3	0	19	dbSNP_129	38	54,7706		2,50,3828	yes	missense	PRAM1	NM_032152.4	98	276,955,4452	TT,TC,CC		0.6959,40.294,13.2588	benign	135/671	8564288	1507,9859	1803	3880	5683	SO:0001583	missense	84106	exon2			GTGGCCCCCAGCT	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.404G>A	19.37:g.8564288C>T	ENSP00000408342:p.Gly135Glu	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	106	105	0.990566	NM_032152	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	286	0.13095238095238096	266	0.540650406504065	18	0.049723756906077346	0	0.0	2	0.002638522427440633	T	0.056	-1.237003	0.01493	0.40294	0.006959	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.11385	2.78;2.78	4.32	3.31	0.37934	.	0.543293	0.15485	N	0.259864	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44159	-0.9346	9	0.02654	T	1	.	2.7649	0.05317	0.1891:0.2063:0.0:0.6046	rs58466313	135;183	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	E	135	ENSP00000255612:G135E;ENSP00000408342:G135E	ENSP00000255612:G135E	G	-	2	0	PRAM1	8470288	0.008000	0.16893	0.008000	0.14137	0.015000	0.08874	1.805000	0.38883	0.811000	0.34303	-0.340000	0.08031	GGG	C|0.891;T|0.109	0.109	strong		0.657	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		T	8564288	C	T	8564288	3	4	22	1	0	0	0	0	1	0	0	0	12423	623	22	2	1641	2	PRAM1	19	8564288	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	165016	8564288	50564695	9479	14587										
MYO1F	4542	hgsc.bcm.edu	37	chr19	8620636	8620636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accatgtcatccacgccgctCtgcttcacgttgtggctctg	9	15	4	0	rs73501540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8620636C>T	ENST00000338257.8	-	2	315	c.48G>A	c.(46-48)caG>caA	p.Q16Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	16					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCGCTCTGCTTCACGT	0.637													C|||	320	0.0638978	0.2322	0.0187	5008	,	,		13239	0.0		0.0	False		,,,				2504	0.0				p.Q16Q		Atlas-SNP	.											.	MYO1F	128	.	0			c.G48A						PASS	.	C		799,3379		64,671,1354	83	90	87		48	1.9	1	19	dbSNP_130	87	10,8402		0,10,4196	no	coding-synonymous	MYO1F	NM_012335.3		64,681,5550	TT,TC,CC		0.1189,19.124,6.4257		16/1099	8620636	809,11781	2089	4206	6295	SO:0001819	synonymous_variant	4542	exon2			GCCGCTCTGCTTC	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.48G>A	19.37:g.8620636C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_012335	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																			C|0.966;T|0.034	0.034	strong		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8620636	C	T	8620636	2	4	22	1	0	0	0	0	0	0	0	1	10073	912	32	2		2	MYO1F	19	8620636	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56348	8620636	50508347	9480	14588										
ADAMTS10	81794	hgsc.bcm.edu	37	chr19	8669931	8669931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgatggccacatgggagGtgctggcctggccctgcagg	17	11	0	1	rs7255721	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8669931G>C	ENST00000597188.1	-	4	671	c.401C>G	c.(400-402)aCc>aGc	p.T134S	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.T134S	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	134			T -> S (in dbSNP:rs7255721). {ECO:0000269|PubMed:15355968}.			extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CACATGGGAGGTGCTGGCCTG	0.622													C|||	4477	0.89397	0.9766	0.8516	5008	,	,		15683	0.9702		0.7048	False		,,,				2504	0.9284				p.T134S		Atlas-SNP	.											.	ADAMTS10	132	.	0			c.C401G						PASS	.	C	SER/THR	4069,273		1906,257,8	8	10	9		401	5.2	1	19	dbSNP_116	9	5979,2533		2139,1701,416	yes	missense	ADAMTS10	NM_030957.2	58	4045,1958,424	CC,CG,GG		29.758,6.2874,21.8298	benign	134/1104	8669931	10048,2806	2171	4256	6427	SO:0001583	missense	81794	exon4			TGGGAGGTGCTGG	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.401C>G	19.37:g.8669931G>C	ENSP00000471851:p.Thr134Ser	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	133	133	1	NM_030957	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	1862	0.8525641025641025	478	0.9715447154471545	297	0.8204419889502762	552	0.965034965034965	535	0.7058047493403694	C	3.922	-0.017841	0.07681	0.937126	0.70242	ENSG00000142303	ENST00000270328	T	0.58060	0.36	5.24	5.24	0.73138	Peptidase M12B, propeptide (1);	0.190363	0.46758	N	0.000276	T	0.00012	0.0000	N	0.00471	-1.455	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.41179	-0.9523	9	0.02654	T	1	.	10.455	0.44546	0.0:0.789:0.1357:0.0753	rs7255721;rs7255721	134	Q9H324	ATS10_HUMAN	S	134	ENSP00000270328:T134S	ENSP00000270328:T134S	T	-	2	0	ADAMTS10	8575931	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.951000	0.29135	1.228000	0.43614	-0.322000	0.08575	ACC	G|0.152;C|0.848	0.848	strong		0.622	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		C	8669931	G	C	8669931	3	2	22	1	0	0	0	0	1	0	0	0	256	1261	44	4	3002	4	ADAMTS10	19	8669931	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49295	8669931	50459052	9481	14589										
OR2Z1	284383	hgsc.bcm.edu	37	chr19	8841461	8841461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcagtcactcaggatcacGccagctcctcttctccctgg	7	17	6	0	rs61746162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8841461G>A	ENST00000324060.2	+	1	146	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	24						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)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCAGGATCACGCCAGCTCCTC	0.527													G|||	68	0.0135783	0.0507	0.0014	5008	,	,		19929	0.0		0.0	False		,,,				2504	0.0				p.R24H		Atlas-SNP	.											.	OR2Z1	53	.	0			c.G71A						PASS	.	G	HIS/ARG	238,4168	141.1+/-176.5	4,230,1969	100	88	92		71	-8.7	0	19	dbSNP_129	92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2Z1	NM_001004699.1	29	4,231,6268	AA,AG,GG		0.0116,5.4017,1.8376	benign	24/315	8841461	239,12767	2203	4300	6503	SO:0001583	missense	284383	exon1			GATCACGCCAGCT	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.71G>A	19.37:g.8841461G>A	ENSP00000316284:p.Arg24His	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	192	109	0.567708	NM_001004699	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	G	0.055	-1.239798	0.01493	0.054017	1.16E-4	ENSG00000181733	ENST00000324060	T	0.02787	4.16	4.33	-8.66	0.00866	.	2.040040	0.01847	N	0.035693	T	0.00210	0.0006	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46965	-0.9153	10	0.23302	T	0.38	.	3.2173	0.06704	0.446:0.2768:0.1843:0.0929	rs61746162	24	Q8NG97	OR2Z1_HUMAN	H	24	ENSP00000316284:R24H	ENSP00000316284:R24H	R	+	2	0	OR2Z1	8702461	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.436000	0.01019	-2.268000	0.00685	-1.131000	0.01979	CGC	G|0.984;A|0.016	0.016	strong		0.527	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			A	8841461	G	A	8841461	3	1	22	1	0	0	0	0	1	0	0	0	11036	1087	38	1	73	1	OR2Z1	19	8841461	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	171530	8841461	50287522	9482	14590										
MUC16	94025	hgsc.bcm.edu	37	chr19	8996460	8996460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtggtgggtgcagatggcAtccactccagtggctgtccc	16	11	0	1	rs115933306	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:8996460A>C	ENST00000397910.4	-	61	41315	c.41112T>G	c.(41110-41112)gaT>gaG	p.D13704E	MUC16_ENST00000380951.5_Missense_Mutation_p.D345E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13706	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCATCCACTCCAG	0.547													-|||	174	0.0347444	0.1271	0.0086	5008	,	,		19097	0.0		0.0	False		,,,				2504	0.0				p.D13704E		Atlas-SNP	.											.	MUC16	4315	.	0			c.T41112G						PASS	.	A	GLU/ASP	326,3522		18,290,1616	71	66	68		41112	-4.6	0	19	dbSNP_132	68	4,8262		0,4,4129	yes	missense	MUC16	NM_024690.2	45	18,294,5745	CC,CA,AA		0.0484,8.4719,2.7241	probably-damaging	13704/14508	8996460	330,11784	1924	4133	6057	SO:0001583	missense	94025	exon61			GATGGCATCCACT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41112T>G	19.37:g.8996460A>C	ENSP00000381008:p.Asp13704Glu	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	43|43	0.019688644688644688|0.019688644688644688	39|39	0.07926829268292683|0.07926829268292683	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	0|0	0.0|0.0	.|.	13.79|13.79	2.342264|2.342264	0.41498|0.41498	0.084719|0.084719	4.84E-4|4.84E-4	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.35048|.	1.33;1.33|.	3.36|3.36	-4.56|-4.56	0.03431|0.03431	SEA (1);|.	0.216241|.	0.23120|.	U|.	0.051715|.	T|T	0.09468|0.09468	0.0233|0.0233	M|M	0.90082|0.90082	3.085|3.085	.|.	.|.	.|.	D;D|.	0.65815|.	0.995;0.959|.	P;D|.	0.67103|.	0.901;0.949|.	T|T	0.61197|0.61197	-0.7111|-0.7111	9|4	0.72032|.	D|.	0.01|.	-11.1203|-11.1203	8.9526|8.9526	0.35799|0.35799	0.6401:0.0:0.3599:0.0|0.6401:0.0:0.3599:0.0	.|.	21349;13704|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	E|R	13704;345|544	ENSP00000381008:D13704E;ENSP00000370338:D345E|.	ENSP00000370338:D345E|.	D|M	-|-	3|2	2|0	MUC16|MUC16	8857460|8857460	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-1.743000|-1.743000	0.01834|0.01834	-0.764000|-0.764000	0.04651|0.04651	-0.415000|-0.415000	0.06103|0.06103	GAT|ATG	A|0.974;C|0.026	0.026	strong		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8996460	A	C	8996460	3	2	22	1	0	0	0	0	1	0	0	0	9973	214	8	5	2507	5	MUC16	19	8996460	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	154999	8996460	50132523	9483	14591										
MUC16	94025	hgsc.bcm.edu	37	chr19	9005719	9005719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactctggtggctactccAtccttctcaggcctggggag	11	14	2	0	rs4804375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9005719A>G	ENST00000397910.4	-	46	39890	c.39687T>C	c.(39685-39687)gaT>gaC	p.D13229D	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13231	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTACTCCATCCTTCTCAG	0.557													-|||	3672	0.733227	0.705	0.8098	5008	,	,		19779	0.7361		0.7187	False		,,,				2504	0.729				p.D13229D		Atlas-SNP	.											.	MUC16	4315	.	0			c.T39687C						PASS	.	A		2968,1080		1091,786,147	59	56	57		39687	-4.1	0	19	dbSNP_111	57	6228,2118		2340,1548,285	no	coding-synonymous	MUC16	NM_024690.2		3431,2334,432	GG,GA,AA		25.3774,26.6798,25.8028		13229/14508	9005719	9196,3198	2024	4173	6197	SO:0001819	synonymous_variant	94025	exon46			TACTCCATCCTTC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39687T>C	19.37:g.9005719A>G		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	205	204	0.995122	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	1626	0.7445054945054945	349	0.709349593495935	287	0.7928176795580111	461	0.8059440559440559	529	0.6978891820580475	.	3.132	-0.178229	0.06380	0.733202	0.746226	ENSG00000181143	ENST00000542240	.	.	.	3.51	-4.1	0.03940	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28038	-1.0056	3	.	.	.	-0.7111	3.1733	0.06560	0.2639:0.0:0.2323:0.5038	rs4804375;rs35899515;rs4804375	.	.	.	T	69	.	.	M	-	2	0	MUC16	8866719	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.802000	0.04545	-0.691000	0.05135	-0.475000	0.04921	ATG	A|0.267;G|0.733	0.733	strong		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9005719	A	G	9005719	2	3	22	1	0	0	0	0	0	0	0	1	9973	214	8	2		2	MUC16	19	9005719	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9259	9005719	50123264	9484	14592										
MUC16	94025	hgsc.bcm.edu	37	chr19	9024994	9024994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggctgccccatctttctCgggcctggggagggtcagtg	16	11	3	0	rs67631215	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9024994C>T	ENST00000397910.4	-	16	37071	c.36868G>A	c.(36868-36870)Gag>Aag	p.E12290K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12292	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E12290K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCTTTCTCGGGCCTGGGG	0.547													C|||	1523	0.304113	0.2201	0.2939	5008	,	,		18746	0.2421		0.4026	False		,,,				2504	0.3875				p.E12290K		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,0,1	MUC16	4315	1	1	Substitution - Missense(1)	stomach(1)	c.G36868A						PASS	.	C	LYS/GLU	916,2792		124,668,1062	57	54	55		36868	1.5	0	19	dbSNP_130	55	3105,5093		572,1961,1566	yes	missense	MUC16	NM_024690.2	56	696,2629,2628	TT,TC,CC		37.8751,24.7033,33.7729	benign	12290/14508	9024994	4021,7885	1854	4099	5953	SO:0001583	missense	94025	exon16			CTTTCTCGGGCCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36868G>A	19.37:g.9024994C>T	ENSP00000381008:p.Glu12290Lys	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	169	81	0.47929	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	682	0.31227106227106227	103	0.20934959349593496	119	0.3287292817679558	153	0.2674825174825175	307	0.4050131926121372	c	10.19	1.282635	0.23392	0.247033	0.378751	ENSG00000181143	ENST00000397910	T	0.43688	0.94	2.57	1.51	0.23008	.	.	.	.	.	T	0.00012	0.0000	L	0.50919	1.6	.	.	.	B	0.14012	0.009	B	0.15484	0.013	T	0.37291	-0.9712	8	0.87932	D	0	.	5.6295	0.17501	0.0:0.8391:0.0:0.1609	.	12290	B5ME49	.	K	12290	ENSP00000381008:E12290K	ENSP00000381008:E12290K	E	-	1	0	MUC16	8885994	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.021000	0.12504	0.643000	0.30638	-1.098000	0.02139	GAG	C|0.686;T|0.314	0.314	strong		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9024994	C	T	9024994	3	4	22	1	0	0	0	0	1	0	0	0	9973	893	31	1	6931	1	MUC16	19	9024994	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19275	9024994	50103989	9485	14593										
MUC16	94025	hgsc.bcm.edu	37	chr19	9048342	9048342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaccagaggggtcaccaCtcctgataccccaggtgaaa	11	12	1	4	rs10854118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9048342C>T	ENST00000397910.4	-	5	33492	c.33289G>A	c.(33289-33291)Gtg>Atg	p.V11097M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11099	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V11097M(1)|p.V6730M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCACCACTCCTGATACC	0.512													C|||	2196	0.438498	0.4062	0.4092	5008	,	,		23561	0.497		0.4245	False		,,,				2504	0.4571				p.V11097M		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,0,2	MUC16	4315	2	2	Substitution - Missense(2)	stomach(2)	c.G33289A						PASS	.		MET/VAL	1540,2296		332,876,710	77	69	71		33289	-0.5	0	19	dbSNP_120	71	3319,4959		658,2003,1478	yes	missense	MUC16	NM_024690.2	21	990,2879,2188	TT,TC,CC		40.0942,40.146,40.1106	benign	11097/14508	9048342	4859,7255	1918	4139	6057	SO:0001583	missense	94025	exon5			TCACCACTCCTGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33289G>A	19.37:g.9048342C>T	ENSP00000381008:p.Val11097Met	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	153	75	0.490196	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	938	0.42948717948717946	183	0.3719512195121951	150	0.4143646408839779	283	0.49475524475524474	322	0.42480211081794195	c	4.287	0.052413	0.08291	0.40146	0.400942	ENSG00000181143	ENST00000397910	T	0.02837	4.14	2.96	-0.543	0.11851	.	.	.	.	.	T	0.00012	0.0000	L	0.35414	1.06	.	.	.	B	0.12630	0.006	B	0.13407	0.009	T	0.40270	-0.9572	8	0.87932	D	0	.	2.2098	0.03945	0.2278:0.2815:0.0:0.4908	rs10854118;rs10854118	11097	B5ME49	.	M	11097	ENSP00000381008:V11097M	ENSP00000381008:V11097M	V	-	1	0	MUC16	8909342	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.431000	0.00123	-0.200000	0.10300	-0.447000	0.05616	GTG	C|0.570;T|0.430	0.430	strong		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9048342	C	T	9048342	3	4	22	1	0	0	0	0	1	0	0	0	9973	565	20	2	10554	2	MUC16	19	9048342	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23348	9048342	50080641	9486	14594										
MUC16	94025	hgsc.bcm.edu	37	chr19	9060541	9060541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatggtggaagaggtgaccaCtggagatgtcactttggatg	15	5	1	3	rs11882256	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9060541C>T	ENST00000397910.4	-	3	27108	c.26905G>A	c.(26905-26907)Gtg>Atg	p.V8969M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8971	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTGACCACTGGAGATGTC	0.473													t|||	1962	0.391773	0.3427	0.4712	5008	,	,		22676	0.5933		0.2525	False		,,,				2504	0.3374				p.V8969M		Atlas-SNP	.											.	MUC16	4315	.	0			c.G26905A						PASS	.	C	MET/VAL	1278,2694		198,882,906	208	194	199		26905	-5.2	0	19	dbSNP_120	199	2173,6167		270,1633,2267	yes	missense	MUC16	NM_024690.2	21	468,2515,3173	TT,TC,CC		26.0552,32.1752,28.0296	probably-damaging	8969/14508	9060541	3451,8861	1986	4170	6156	SO:0001583	missense	94025	exon3			TGACCACTGGAGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26905G>A	19.37:g.9060541C>T	ENSP00000381008:p.Val8969Met	Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	277	116	0.418773	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	877	0.4015567765567766	156	0.3170731707317073	152	0.4198895027624309	374	0.6538461538461539	195	0.25725593667546176	t	2.257	-0.370133	0.05069	0.321752	0.260552	ENSG00000181143	ENST00000397910	T	0.20881	2.04	2.62	-5.24	0.02789	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.39121	-0.9629	8	0.87932	D	0	.	3.1852	0.06598	0.1063:0.4194:0.3199:0.1545	rs11882256;rs52832468;rs59005440;rs11882256	8969	B5ME49	.	M	8969	ENSP00000381008:V8969M	ENSP00000381008:V8969M	V	-	1	0	MUC16	8921541	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-7.589000	0.00033	-3.677000	0.00122	-0.871000	0.02989	GTG	C|0.615;T|0.385	0.385	strong		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9060541	C	T	9060541	3	4	22	1	0	0	0	0	1	0	0	0	9973	565	20	2	16946	2	MUC16	19	9060541	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12199	9060541	50068442	9487	14595										
MUC16	94025	hgsc.bcm.edu	37	chr19	9061559	9061559	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatctttggtgacttcagaCgtggctaatatttcagctga	9	8	3	3	rs1423052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9061559C>G	ENST00000397910.4	-	3	26090	c.25887G>C	c.(25885-25887)acG>acC	p.T8629T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8631	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTTCAGACGTGGCTAATA	0.453													N|||	1919	0.383187	0.3472	0.4006	5008	,	,		22669	0.5933		0.2525	False		,,,				2504	0.3374				p.T8629T		Atlas-SNP	.											.	MUC16	4315	.	0			c.G25887C						PASS	.			1265,2617		198,869,874	146	138	140		25887	-4.2	0	19	dbSNP_88	140	2154,6140		270,1614,2263	no	coding-synonymous	MUC16	NM_024690.2		468,2483,3137	GG,GC,CC		25.9706,32.5863,28.0798		8629/14508	9061559	3419,8757	1941	4147	6088	SO:0001819	synonymous_variant	94025	exon3			TTCAGACGTGGCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25887G>C	19.37:g.9061559C>G		Somatic	421	0	0		WXS	Illumina HiSeq	Phase_I	430	234	0.544186	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			C|0.616;G|0.384	0.384	strong		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9061559	C	G	9061559	2	3	22	1	0	0	0	0	0	0	0	1	9973	523	19	4		4	MUC16	19	9061559	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1018	9061559	50067424	9488	14596										
MUC16	94025	hgsc.bcm.edu	37	chr19	9063594	9063594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacatcctcaggacccctcCtcataagagtgctcatctgt	6	14	4	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9063594C>T	ENST00000397910.4	-	3	24055	c.23852G>A	c.(23851-23853)aGg>aAg	p.R7951K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7953	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCCTCCTCATAAGAGT	0.463																																					p.R7951K		Atlas-SNP	.											MUC16_ENST00000397910,bladder,carcinoma,-1,3	MUC16	4315	3	0			c.G23852A						scavenged	.						137	128	130					19																	9063594		1977	4160	6137	SO:0001583	missense	94025	exon3			CCCCTCCTCATAA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23852G>A	19.37:g.9063594C>T	ENSP00000381008:p.Arg7951Lys	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	197	3	0.0152284	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.652	0.304911	0.10678	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.67	-2.99	0.05497	.	.	.	.	.	T	0.08846	0.0219	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	8	0.87932	D	0	.	4.1679	0.10315	0.1632:0.4799:0.0:0.3569	.	7951	B5ME49	.	K	7951	ENSP00000381008:R7951K	ENSP00000381008:R7951K	R	-	2	0	MUC16	8924594	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.984000	0.03755	-0.888000	0.03956	-1.509000	0.00949	AGG	.	.	none		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9063594	C	T	9063594	3	4	22	1	0	0	0	0	1	0	0	0	9973	681	24	2	19999	2	MUC16	19	9063594	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2035	9063594	50065389	9489	14597										
MUC16	94025	hgsc.bcm.edu	37	chr19	9065510	9065510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaggatgggggaagtaggGaacttaatgatttttcttgt	14	4	1	1	rs1867692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9065510G>A	ENST00000397910.4	-	3	22139	c.21936C>T	c.(21934-21936)ttC>ttT	p.F7312F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7314	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGTAGGGAACTTAATGA	0.453													N|||	906	0.180911	0.2458	0.1196	5008	,	,		22237	0.2679		0.0895	False		,,,				2504	0.1411				p.F7312F		Atlas-SNP	.											.	MUC16	4315	.	0			c.C21936T						PASS	.	G		844,3010		94,656,1177	143	138	140		21936	-0.8	0	19	dbSNP_92	140	642,7584		27,588,3498	no	coding-synonymous	MUC16	NM_024690.2		121,1244,4675	AA,AG,GG		7.8045,21.8993,12.3013		7312/14508	9065510	1486,10594	1927	4113	6040	SO:0001819	synonymous_variant	94025	exon3			AGTAGGGAACTTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21936C>T	19.37:g.9065510G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	47	27	0.574468	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			G|0.825;A|0.175	0.175	strong		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9065510	G	A	9065510	2	1	22	1	0	0	0	0	0	0	0	1	9973	1165	41	2		2	MUC16	19	9065510	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1916	9065510	50063473	9490	14598										
MUC16	94025	hgsc.bcm.edu	37	chr19	9068530	9068530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgaactggtggtccccaCattggccactgctgtgttta	12	10	0	1	rs7250080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9068530C>T	ENST00000397910.4	-	3	19119	c.18916G>A	c.(18916-18918)Gtg>Atg	p.V6306M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6308	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTCCCCACATTGGCCACT	0.463													C|||	949	0.189497	0.2458	0.1888	5008	,	,		20887	0.2679		0.0845	False		,,,				2504	0.1411				p.V6306M		Atlas-SNP	.											.	MUC16	4315	.	0			c.G18916A						PASS	.	C	MET/VAL	876,3138		97,682,1228	201	190	193		18916	1.1	0	19	dbSNP_116	193	648,7702		26,596,3553	yes	missense	MUC16	NM_024690.2	21	123,1278,4781	TT,TC,CC		7.7605,21.8236,12.3261	probably-damaging	6306/14508	9068530	1524,10840	2007	4175	6182	SO:0001583	missense	94025	exon3			TCCCCACATTGGC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18916G>A	19.37:g.9068530C>T	ENSP00000381008:p.Val6306Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	259	138	0.532819	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	397	0.18177655677655677	100	0.2032520325203252	60	0.16574585635359115	169	0.29545454545454547	68	0.08970976253298153	c	3.020	-0.201996	0.06219	0.218236	0.077605	ENSG00000181143	ENST00000397910	T	0.33654	1.4	2.13	1.06	0.20224	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	.	.	.	D	0.53462	0.96	B	0.41299	0.353	T	0.37244	-0.9714	8	0.87932	D	0	.	4.8461	0.13514	0.0:0.8122:0.0:0.1878	rs7250080;rs52814554;rs60352912;rs7250080	6306	B5ME49	.	M	6306	ENSP00000381008:V6306M	ENSP00000381008:V6306M	V	-	1	0	MUC16	8929530	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.485000	0.02314	0.447000	0.26695	0.195000	0.17529	GTG	C|0.827;T|0.173	0.173	strong		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068530	C	T	9068530	3	4	22	1	0	0	0	0	1	0	0	0	9973	478	17	2	24935	2	MUC16	19	9068530	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3020	9068530	50060453	9491	14599										
MUC16	94025	hgsc.bcm.edu	37	chr19	9068990	9068990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttgtgtggcgatggtcttGtgtgtagatattgtcaaggg	16	3	2	1	rs35092547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9068990G>T	ENST00000397910.4	-	3	18659	c.18456C>A	c.(18454-18456)caC>caA	p.H6152Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6154	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGATGGTCTTGTGTGTAGATA	0.507													g|||	49	0.00978435	0.0008	0.0216	5008	,	,		17653	0.001		0.0268	False		,,,				2504	0.0051				p.H6152Q		Atlas-SNP	.											.	MUC16	4315	.	0			c.C18456A						PASS	.	G	GLN/HIS	17,4221		0,17,2102	66	70	69		18456	-2.7	0	19	dbSNP_126	69	249,8207		5,239,3984	yes	missense	MUC16	NM_024690.2	24	5,256,6086	TT,TG,GG		2.9447,0.4011,2.0955	benign	6152/14508	9068990	266,12428	2119	4228	6347	SO:0001583	missense	94025	exon3			GGTCTTGTGTGTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18456C>A	19.37:g.9068990G>T	ENSP00000381008:p.His6152Gln	Somatic	428	1	0.00233645		WXS	Illumina HiSeq	Phase_I	499	277	0.55511	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	28	0.01282051282051282	0	0.0	6	0.016574585635359115	1	0.0017482517482517483	21	0.027704485488126648	g	2.171	-0.389912	0.04932	0.004011	0.029447	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.35	-2.71	0.05986	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	.	.	.	B	0.31174	0.311	B	0.20577	0.03	T	0.44452	-0.9327	8	0.87932	D	0	.	2.4961	0.04621	0.3275:0.0:0.4389:0.2335	rs35092547;rs61737587	6152	B5ME49	.	Q	6152	ENSP00000381008:H6152Q	ENSP00000381008:H6152Q	H	-	3	2	MUC16	8929990	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-2.276000	0.01161	-1.154000	0.02825	0.163000	0.16589	CAC	G|0.981;T|0.019	0.019	strong		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068990	G	T	9068990	3	4	22	1	0	0	0	0	1	0	0	0	9973	1368	48	4	25395	4	MUC16	19	9068990	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	460	9068990	50059993	9492	14600										
MUC16	94025	hgsc.bcm.edu	37	chr19	9070079	9070079	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtgttgatctcctcagaCgtcctggtgtcccttaatcc	8	13	2	2	rs1559170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9070079C>G	ENST00000397910.4	-	3	17570	c.17367G>C	c.(17365-17367)acG>acC	p.T5789T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5791	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCCTCAGACGTCCTGGTGT	0.458													C|||	966	0.192891	0.2602	0.1859	5008	,	,		22214	0.2679		0.0845	False		,,,				2504	0.1411				p.T5789T		Atlas-SNP	.											.	MUC16	4315	.	0			c.G17367C						PASS	.	C		909,3047		108,693,1177	153	146	148		17367	-2.4	0	19	dbSNP_88	148	648,7684		26,596,3544	no	coding-synonymous	MUC16	NM_024690.2		134,1289,4721	GG,GC,CC		7.7772,22.9778,12.6709		5789/14508	9070079	1557,10731	1978	4166	6144	SO:0001819	synonymous_variant	94025	exon3			CTCAGACGTCCTG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17367G>C	19.37:g.9070079C>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	185	83	0.448649	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			C|0.805;G|0.195	0.195	strong		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9070079	C	G	9070079	2	3	22	1	0	0	0	0	0	0	0	1	9973	523	19	4		4	MUC16	19	9070079	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1089	9070079	50058904	9493	14601										
MUC16	94025	hgsc.bcm.edu	37	chr19	9070186	9070186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacttgtatcccccatggCgaaggtgatacccattggag	10	11	0	1	rs1559171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9070186C>T	ENST00000397910.4	-	3	17463	c.17260G>A	c.(17260-17262)Gcc>Acc	p.A5754T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5756	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCCCATGGCGAAGGTGATA	0.468													t|||	100	0.0199681	0.0734	0.0043	5008	,	,		22084	0.0		0.0	False		,,,				2504	0.0				p.A5754T		Atlas-SNP	.											.	MUC16	4315	.	0			c.G17260A						PASS	.	T	THR/ALA	251,3819		11,229,1795	161	152	155		17260	-3.5	0	19	dbSNP_88	155	5,8383		0,5,4189	yes	missense	MUC16	NM_024690.2	58	11,234,5984	TT,TC,CC		0.0596,6.1671,2.0549	benign	5754/14508	9070186	256,12202	2035	4194	6229	SO:0001583	missense	94025	exon3			CCATGGCGAAGGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17260G>A	19.37:g.9070186C>T	ENSP00000381008:p.Ala5754Thr	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	282	132	0.468085	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	28	0.01282051282051282	25	0.0508130081300813	3	0.008287292817679558	0	0.0	0	0.0	t	4.044	0.005793	0.07866	0.061671	5.96E-4	ENSG00000181143	ENST00000397910	T	0.20069	2.1	1.73	-3.46	0.04767	.	.	.	.	.	T	0.00724	0.0024	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.26503	-1.0101	8	0.87932	D	0	.	1.5797	0.02632	0.2079:0.4205:0.1629:0.2087	rs1559171;rs1559171	5754	B5ME49	.	T	5754	ENSP00000381008:A5754T	ENSP00000381008:A5754T	A	-	1	0	MUC16	8931186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.346000	0.07760	-2.492000	0.00516	-0.521000	0.04368	GCC	C|0.987;T|0.013	0.013	strong		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9070186	C	T	9070186	3	4	22	1	0	0	0	0	1	0	0	0	9973	768	27	1	26591	1	MUC16	19	9070186	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	107	9070186	50058797	9494	14602										
MUC16	94025	hgsc.bcm.edu	37	chr19	9071916	9071916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctctcttaatgtttgtaGtctcagaggaaccatgcact	8	10	3	1	rs35346115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9071916G>A	ENST00000397910.4	-	3	15733	c.15530C>T	c.(15529-15531)aCt>aTt	p.T5177I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5179	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGTTTGTAGTCTCAGAGGA	0.478													G|||	49	0.00978435	0.0008	0.0216	5008	,	,		20472	0.001		0.0268	False		,,,				2504	0.0051				p.T5177I		Atlas-SNP	.											.	MUC16	4315	.	0			c.C15530T						PASS	.	G	ILE/THR	17,3971		0,17,1977	283	266	272		15530	0.6	0	19	dbSNP_126	272	253,8085		5,243,3921	yes	missense	MUC16	NM_024690.2	89	5,260,5898	AA,AG,GG		3.0343,0.4263,2.1905	probably-damaging	5177/14508	9071916	270,12056	1994	4169	6163	SO:0001583	missense	94025	exon3			TTTGTAGTCTCAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15530C>T	19.37:g.9071916G>A	ENSP00000381008:p.Thr5177Ile	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	169	85	0.502959	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	28	0.01282051282051282	0	0.0	6	0.016574585635359115	1	0.0017482517482517483	21	0.027704485488126648	g	2.171	-0.389853	0.04932	0.004263	0.030343	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.65	0.563	0.17296	.	.	.	.	.	T	0.11281	0.0275	L	0.55481	1.735	.	.	.	D	0.65815	0.995	P	0.51945	0.685	T	0.24621	-1.0155	8	0.87932	D	0	.	4.0586	0.09827	0.2293:0.0:0.7707:0.0	rs35346115	5177	B5ME49	.	I	5177	ENSP00000381008:T5177I	ENSP00000381008:T5177I	T	-	2	0	MUC16	8932916	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.111000	0.03303	0.269000	0.21961	0.121000	0.15741	ACT	G|0.980;A|0.020	0.020	strong		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9071916	G	A	9071916	3	1	22	1	0	0	0	0	1	0	0	0	9973	1029	36	2	28321	2	MUC16	19	9071916	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1730	9071916	50057067	9495	14603										
MUC16	94025	hgsc.bcm.edu	37	chr19	9080462	9080462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatatttacctgctggactgCtccccgtctcctctgctggg	9	14	2	0	rs2547065	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9080462C>G	ENST00000397910.4	-	2	9772	c.9569G>C	c.(9568-9570)aGc>aCc	p.S3190T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3191	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGGACTGCTCCCCGTCTC	0.463													G|||	3027	0.604433	0.4304	0.611	5008	,	,		15446	0.8125		0.5994	False		,,,				2504	0.6258				p.S3190T		Atlas-SNP	.											.	MUC16	4315	.	0			c.G9569C						PASS	.	G	THR/SER	1826,2018		446,934,542	132	130	130		9569	0.9	0	19	dbSNP_100	130	5021,3205		1526,1969,618	yes	missense	MUC16	NM_024690.2	58	1972,2903,1160	GG,GC,CC		38.9618,47.5026,43.2726	benign	3190/14508	9080462	6847,5223	1922	4113	6035	SO:0001583	missense	94025	exon2			GGACTGCTCCCCG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9569G>C	19.37:g.9080462C>G	ENSP00000381008:p.Ser3190Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	101	42	0.415842	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	1360	0.6227106227106227	210	0.4268292682926829	219	0.6049723756906077	474	0.8286713286713286	457	0.6029023746701847	g	1.495	-0.553583	0.03996	0.475026	0.610382	ENSG00000181143	ENST00000397910	T	0.01705	4.68	0.926	0.926	0.19430	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.04915	-1.0918	7	0.87932	D	0	.	4.8195	0.13383	0.0:0.3988:0.6012:0.0	rs2547065;rs3896536;rs2547065	3190	B5ME49	.	T	3190	ENSP00000381008:S3190T	ENSP00000381008:S3190T	S	-	2	0	MUC16	8941462	0.001000	0.12720	0.010000	0.14722	0.015000	0.08874	-0.194000	0.09559	-0.035000	0.13691	-0.647000	0.03941	AGC	C|0.370;G|0.630	0.630	strong		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9080462	C	G	9080462	3	3	22	1	0	0	0	0	1	0	0	0	9973	797	28	4	34286	4	MUC16	19	9080462	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8546	9080462	50048521	9496	14604										
OR7G2	390882	hgsc.bcm.edu	37	chr19	9213396	9213396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagttcacagaagaagagcGggatttccaggtctgtgcag	13	9	2	3	rs7247751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9213396G>A	ENST00000305456.2	-	1	586	c.587C>T	c.(586-588)cCg>cTg	p.P196L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAAGAAGAGCGGGATTTCCAG	0.478													-|||	155	0.0309505	0.1127	0.0086	5008	,	,		21697	0.0		0.0	False		,,,				2504	0.0				p.P196L	Esophageal Squamous(67;143 1448 28637 40648)	Atlas-SNP	.											OR7G2,NS,carcinoma,+1,1	OR7G2	48	1	0			c.C587T						PASS	.	G	LEU/PRO	380,4026	190.9+/-216.7	16,348,1839	98	86	90		587	2.2	0	19	dbSNP_116	90	4,8596	3.0+/-9.4	0,4,4296	yes	missense	OR7G2	NM_001005193.1	98	16,352,6135	AA,AG,GG		0.0465,8.6246,2.9525	possibly-damaging	196/346	9213396	384,12622	2203	4300	6503	SO:0001583	missense	390882	exon1			AAGAGCGGGATTT		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.587C>T	19.37:g.9213396G>A	ENSP00000303822:p.Pro196Leu	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	216	102	0.472222	NM_001005193	Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	55	0.025183150183150184	54	0.10975609756097561	1	0.0027624309392265192	0	0.0	0	0.0	g	8.801	0.932843	0.18131	0.086246	4.65E-4	ENSG00000170923	ENST00000305456	T	0.37752	1.18	3.27	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.212960	0.23524	U	0.047241	T	0.00637	0.0021	L	0.58583	1.82	0.09310	N	1	P	0.45672	0.864	B	0.40825	0.341	T	0.01262	-1.1402	10	0.66056	D	0.02	.	9.1271	0.36821	0.0:0.0:0.4786:0.5214	rs7247751;rs52817351;rs7247751	175	Q8NG99	OR7G2_HUMAN	L	196	ENSP00000303822:P196L	ENSP00000303822:P196L	P	-	2	0	OR7G2	9074396	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.621000	0.05559	0.954000	0.37851	0.545000	0.68477	CCG	G|0.968;A|0.032	0.032	strong		0.478	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			A	9213396	G	A	9213396	3	1	22	1	0	0	0	0	1	0	0	0	11223	1116	39	1	452	1	OR7G2	19	9213396	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132934	9213396	49915587	9497	14605										
OR7D2	162998	hgsc.bcm.edu	37	chr19	9296664	9296664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccaacctgtcctgggtTgacatctgtttcagcacttg	8	13	3	1	rs56246934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9296664T>C	ENST00000344248.2	+	1	386	c.207T>C	c.(205-207)gtT>gtC	p.V69V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	69					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TGTCCTGGGTTGACATCTGTT	0.537													T|||	1136	0.226837	0.0787	0.2003	5008	,	,		19645	0.2768		0.3012	False		,,,				2504	0.318				p.V69V		Atlas-SNP	.											.	OR7D2	55	.	0			c.T207C						PASS	.	T		491,3915	228.5+/-243.3	18,455,1730	126	117	120		207	-4.4	0	19	dbSNP_129	120	2569,6031	417.1+/-352.3	359,1851,2090	no	coding-synonymous	OR7D2	NM_175883.2		377,2306,3820	CC,CT,TT		29.8721,11.1439,23.5276		69/313	9296664	3060,9946	2203	4300	6503	SO:0001819	synonymous_variant	162998	exon1			CTGGGTTGACATC	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.207T>C	19.37:g.9296664T>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	104	47	0.451923	NM_175883	Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	CCDS32900.1																																																																																			T|0.761;C|0.239	0.239	strong		0.537	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			C	9296664	T	C	9296664	2	2	22	1	0	0	0	0	0	0	0	1	11219	1799	63	2		2	OR7D2	19	9296664	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	83268	9296664	49832319	9498	14606										
OR7D2	162998	hgsc.bcm.edu	37	chr19	9297196	9297196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgtgggtctcacctctccGtcgtttctttattttatggg	9	11	3	0	rs61739064	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9297196G>A	ENST00000344248.2	+	1	918	c.739G>A	c.(739-741)Gtc>Atc	p.V247I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	247					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCACCTCTCCGTCGTTTCTTT	0.468													G|||	64	0.0127796	0.0484	0.0	5008	,	,		17847	0.0		0.0	False		,,,				2504	0.0				p.V247I		Atlas-SNP	.											.	OR7D2	55	.	0			c.G739A						PASS	.	G	ILE/VAL	210,4196	127.8+/-164.7	2,206,1995	91	76	81		739	2.2	0	19	dbSNP_129	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR7D2	NM_175883.2	29	2,207,6294	AA,AG,GG		0.0116,4.7662,1.6223	benign	247/313	9297196	211,12795	2203	4300	6503	SO:0001583	missense	162998	exon1			CTCTCCGTCGTTT	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.739G>A	19.37:g.9297196G>A	ENSP00000345563:p.Val247Ile	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_175883	Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	CCDS32900.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	G	9.760	1.169781	0.21621	0.047662	1.16E-4	ENSG00000188000	ENST00000344248	T	0.00253	8.43	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002872	T	0.00039	0.0001	M	0.78801	2.425	0.09310	N	1	P	0.40197	0.706	B	0.38378	0.272	T	0.38693	-0.9649	10	0.59425	D	0.04	.	11.9676	0.53044	0.0:0.0:1.0:0.0	rs61739064	247	Q96RA2	OR7D2_HUMAN	I	247	ENSP00000345563:V247I	ENSP00000345563:V247I	V	+	1	0	OR7D2	9158196	0.163000	0.22920	0.047000	0.18901	0.020000	0.10135	2.174000	0.42482	1.578000	0.49821	0.505000	0.49811	GTC	G|0.983;A|0.017	0.017	strong		0.468	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			A	9297196	G	A	9297196	3	1	22	1	0	0	0	0	1	0	0	0	11219	1145	40	1	741	1	OR7D2	19	9297196	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	532	9297196	49831787	9499	14607										
OR7D4	125958	hgsc.bcm.edu	37	chr19	9324863	9324863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagacaatctgagagtaGgagaagaggatcccagctac	14	7	1	4	rs8109935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9324863G>A	ENST00000308682.2	-	1	679	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCTGAGAGTAGGAGAAGAGGA	0.512													G|||	880	0.175719	0.3578	0.134	5008	,	,		21686	0.0407		0.0626	False		,,,				2504	0.2147				p.S217S		Atlas-SNP	.											OR7D4,NS,malignant_melanoma,-1,2	OR7D4	66	2	0			c.C651T						PASS	.	G		1368,3038	446.3+/-348.0	212,944,1047	82	77	79		651	-1.2	0	19	dbSNP_116	79	677,7923	169.3+/-220.7	31,615,3654	no	coding-synonymous	OR7D4	NM_001005191.2		243,1559,4701	AA,AG,GG		7.8721,31.0486,15.7235		217/313	9324863	2045,10961	2203	4300	6503	SO:0001819	synonymous_variant	125958	exon1			AGAGTAGGAGAAG		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.651C>T	19.37:g.9324863G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	93	0.989362	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	CCDS32901.1																																																																																			G|0.833;A|0.167	0.167	strong		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			A	9324863	G	A	9324863	2	1	22	1	0	0	0	0	0	0	0	1	11220	987	35	2		2	OR7D4	19	9324863	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27667	9324863	49804120	9500	14608										
OR7E24	26648	hgsc.bcm.edu	37	chr19	9362343	9362343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctccaccttaggtgttcCgacaccttcatcaatgaaat	5	14	2	1	rs2240927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9362343C>T	ENST00000456448.1	+	1	738	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTAGGTGTTCCGACACCTTCA	0.408													t|||	2663	0.531749	0.8548	0.3833	5008	,	,		21220	0.5377		0.2833	False		,,,				2504	0.4499				p.S208S		Atlas-SNP	.											.	OR7E24	48	.	0			c.C624T						PASS	.	T		2752,1092		990,772,160	57	58	57		624	-0.5	0	19	dbSNP_98	57	2129,6153		270,1589,2282	no	coding-synonymous	OR7E24	NM_001079935.1		1260,2361,2442	TT,TC,CC		25.7064,28.4079,40.2524		208/340	9362343	4881,7245	1922	4141	6063	SO:0001819	synonymous_variant	26648	exon1			GTGTTCCGACACC	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.624C>T	19.37:g.9362343C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_001079935	B9EJD9|Q9UPJ1	Silent	SNP	ENST00000456448.1	37	CCDS45955.1																																																																																			C|0.488;T|0.512	0.512	strong		0.408	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			T	9362343	C	T	9362343	2	4	22	1	0	0	0	0	0	0	0	1	11221	639	23	1		1	OR7E24	19	9362343	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37480	9362343	49766640	9501	14609										
ZNF699	374879	hgsc.bcm.edu	37	chr19	9407468	9407468	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagggatgaatgatccacGaaggcctttccacactcatg	9	10	1	2	rs189167193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9407468G>A	ENST00000591998.1	-	6	840	c.612C>T	c.(610-612)ttC>ttT	p.F204F	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Silent_p.F204F			Q32M78	ZN699_HUMAN	zinc finger protein 699	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATGATCCACGAAGGCCTTTC	0.428													G|||	15	0.00299521	0.0113	0.0	5008	,	,		19156	0.0		0.0	False		,,,				2504	0.0				p.F204F		Atlas-SNP	.											.	ZNF699	67	.	0			c.C612T						PASS	.	G		36,3990		0,36,1977	154	140	145		612	-0.2	0	19		145	1,8385		0,1,4192	no	coding-synonymous	ZNF699	NM_198535.1		0,37,6169	AA,AG,GG		0.0119,0.8942,0.2981		204/643	9407468	37,12375	2013	4193	6206	SO:0001819	synonymous_variant	374879	exon5			ATCCACGAAGGCC	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.612C>T	19.37:g.9407468G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	153	89	0.581699	NM_198535	Q8N9A1	Silent	SNP	ENST00000591998.1	37	CCDS42495.1																																																																																			G|0.998;A|0.002	0.002	strong		0.428	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		A	9407468	G	A	9407468	2	1	22	1	0	0	0	0	0	0	0	1	18098	1049	37	1		1	ZNF699	19	9407468	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45125	9407468	49721515	9502	14610										
ZNF699	374879	hgsc.bcm.edu	37	chr19	9415754	9415754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccttttacttacctgtatTctatttttctgtaactcagc	3	11	3	0	rs73504761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9415754T>C	ENST00000591998.1	-	2	270	c.42A>G	c.(40-42)agA>agG	p.R14R	ZNF699_ENST00000588336.1_Intron|ZNF699_ENST00000308650.3_Silent_p.R14R			Q32M78	ZN699_HUMAN	zinc finger protein 699	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTACCTGTATTCTATTTTTCT	0.368													C|||	215	0.0429313	0.1422	0.0231	5008	,	,		18816	0.0109		0.0	False		,,,				2504	0.0				p.R14R		Atlas-SNP	.											.	ZNF699	67	.	0			c.A42G						PASS	.	C		477,3215		23,431,1392	155	148	150		42	0	0	19	dbSNP_130	150	10,8172		0,10,4081	no	coding-synonymous	ZNF699	NM_198535.1		23,441,5473	CC,CT,TT		0.1222,12.9198,4.1014		14/643	9415754	487,11387	1846	4091	5937	SO:0001819	synonymous_variant	374879	exon1			CTGTATTCTATTT	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.42A>G	19.37:g.9415754T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	83	36	0.433735	NM_198535	Q8N9A1	Silent	SNP	ENST00000591998.1	37	CCDS42495.1																																																																																			T|0.975;C|0.025	0.025	strong		0.368	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		C	9415754	T	C	9415754	2	2	22	1	0	0	0	0	0	0	0	1	18098	1780	62	2		2	ZNF699	19	9415754	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8286	9415754	49713229	9503	14611										
ZNF559	84527	hgsc.bcm.edu	37	chr19	9453160	9453160	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtcttataaaacacaggCgaactcacactggagaaaag	9	9	2	1	rs150358404	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9453160C>T	ENST00000393883.2	+	6	1681	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R265*|ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R345*|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R409*|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	345					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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAAACACAGGCGAACTCACAC	0.408													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20978	0.0		0.0	False		,,,				2504	0.0				p.R409X		Atlas-SNP	.											ZNF559,NS,carcinoma,-1,4	ZNF559	77	4	0			c.C1225T						PASS	.	C	,stop/ARG,stop/ARG,,,,,,,stop/ARG	9,4397	15.5+/-35.6	0,9,2194	62	58	60		,1225,907,,,,,,,1033	-3.7	0	19	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	intron,stop-gained,stop-gained,utr-3,utr-3,utr-3,utr-3,utr-3,intron,stop-gained	ZNF559,ZNF559-ZNF177	NM_001172650.2,NM_001202406.1,NM_001202407.1,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1,NM_032497.2	,,,,,,,,,	0,11,6492	TT,TC,CC		0.0233,0.2043,0.0846	,,,,,,,,,	,409/603,303/497,,,,,,,345/539	9453160	11,12995	2203	4300	6503	SO:0001587	stop_gained	84527	exon6			CACAGGCGAACTC	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1033C>T	19.37:g.9453160C>T	ENSP00000377461:p.Arg345*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	59	33	0.559322	NM_001202406	K7EMG6	Nonsense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	24.8	4.571286	0.86542	0.002043	2.33E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	.	.	.	1.87	-3.74	0.04385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8332	0.18593	0.3663:0.5052:0.1284:0.0	.	.	.	.	X	345;265;345	.	ENSP00000325393:R345X	R	+	1	2	ZNF559	9314160	0.000000	0.05858	0.000000	0.03702	0.493000	0.33554	-2.312000	0.01127	-1.360000	0.02172	0.313000	0.20887	CGA	C|0.999;T|0.001	0.001	strong		0.408	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		T	9453160	C	T	9453160	4	4	22	1	0	0	0	0	0	1	0	0	17987	760	27	1	1047	1	ZNF559	19	9453160	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37406	9453160	49675823	9504	14612										
ZNF560	147741	hgsc.bcm.edu	37	chr19	9578459	9578459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatgttcaagaaagcctgaCggcacagtgaaggttttgcc	11	9	1	3	rs16980696	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9578459C>T	ENST00000301480.4	-	10	1377	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	388					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAAGCCTGACGGCACAGTGA	0.428													C|||	257	0.0513179	0.1672	0.0101	5008	,	,		21477	0.006		0.0229	False		,,,				2504	0.0				p.P388P		Atlas-SNP	.											.	ZNF560	162	.	0			c.G1164A						PASS	.	C		598,3808	260.1+/-263.5	42,514,1647	130	131	131		1164	-3.7	0	19	dbSNP_123	131	131,8469	67.0+/-129.4	0,131,4169	no	coding-synonymous	ZNF560	NM_152476.2		42,645,5816	TT,TC,CC		1.5233,13.5724,5.6051		388/791	9578459	729,12277	2203	4300	6503	SO:0001819	synonymous_variant	147741	exon10			GCCTGACGGCACA	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1164G>A	19.37:g.9578459C>T		Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	198	197	0.99495	NM_152476	Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	CCDS12214.1																																																																																			C|0.951;T|0.049	0.049	strong		0.428	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		T	9578459	C	T	9578459	2	4	22	1	0	0	0	0	0	0	0	1	17988	523	19	1		1	ZNF560	19	9578459	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	125299	9578459	49550524	9505	14613										
ZNF846	162993	hgsc.bcm.edu	37	chr19	9868764	9868764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttttctccagtgtgaattCgcatgtgtaaaataagtcct	8	8	1	1	rs60387559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9868764C>G	ENST00000397902.2	-	6	1402	c.989G>C	c.(988-990)cGa>cCa	p.R330P	ZNF846_ENST00000588267.1_Missense_Mutation_p.R201P|ZNF846_ENST00000592859.1_Missense_Mutation_p.R201P|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R330Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGTGTGAATTCGCATGTGTAA	0.388													N|||	64	0.0127796	0.0461	0.0043	5008	,	,		23084	0.0		0.0	False		,,,				2504	0.0				p.R330P		Atlas-SNP	.											ZNF846,NS,carcinoma,0,3	ZNF846	61	3	1	Substitution - Missense(1)	large_intestine(1)	c.G989C						PASS	.	C	PRO/ARG	247,4097		17,213,1942	63	68	66		989	-3.1	0	19	dbSNP_129	66	0,8586		0,0,4293	yes	missense	ZNF846	NM_001077624.1	103	17,213,6235	GG,GC,CC		0.0,5.686,1.9103	probably-damaging	330/534	9868764	247,12683	2172	4293	6465	SO:0001583	missense	162993	exon6			TGAATTCGCATGT	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.989G>C	19.37:g.9868764C>G	ENSP00000380999:p.Arg330Pro	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	80	39	0.4875	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	.	15.85	2.955405	0.53293	0.05686	0.0	ENSG00000196605	ENST00000397902	T	0.25749	1.78	2.01	-3.1	0.05315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	M	0.89840	3.065	0.09310	N	1	D	0.71674	0.998	P	0.58013	0.831	T	0.08554	-1.0716	8	.	.	.	.	3.6327	0.08138	0.1949:0.251:0.0:0.5541	rs60387559	330	Q147U1	ZN846_HUMAN	P	330	ENSP00000380999:R330P	.	R	-	2	0	ZNF846	9729764	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.594000	0.02094	-0.747000	0.04759	0.456000	0.33151	CGA	C|0.992;G|0.007;T|0.000	0.007	strong		0.388	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		G	9868764	C	G	9868764	3	3	22	1	0	0	0	0	1	0	0	0	18189	884	31	4	616	4	ZNF846	19	9868764	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	290305	9868764	49260219	9506	14614										
PIN1	5300	hgsc.bcm.edu	37	chr19	9949152	9949152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatcactaacgccagccaGtgggagcggcccagcggcaa	12	15	1	0	rs2233682	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:9949152G>A	ENST00000247970.4	+	2	121	c.99G>A	c.(97-99)caG>caA	p.Q33Q	PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.Q33Q|PIN1_ENST00000588695.1_Silent_p.Q33Q	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	33	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						ACGCCAGCCAGTGGGAGCGGC	0.647													G|||	420	0.0838658	0.1989	0.1095	5008	,	,		17028	0.0387		0.005	False		,,,				2504	0.0378				p.Q33Q		Atlas-SNP	.											PIN1,ear,carcinoma,+2,1	PIN1	7	1	0			c.G99A						PASS	.	G		733,3669		65,603,1533	17	19	19		99	1	1	19	dbSNP_98	19	73,8519		0,73,4223	no	coding-synonymous	PIN1	NM_006221.3		65,676,5756	AA,AG,GG		0.8496,16.6515,6.2029		33/164	9949152	806,12188	2201	4296	6497	SO:0001819	synonymous_variant	5300	exon2			CAGCCAGTGGGAG		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.99G>A	19.37:g.9949152G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	140	77	0.55	NM_006221	A8K4V9|Q53X75	Silent	SNP	ENST00000247970.4	37	CCDS12220.1																																																																																			G|0.936;A|0.064	0.064	strong		0.647	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			A	9949152	G	A	9949152	2	1	22	1	0	0	0	0	0	0	0	1	11930	1020	36	2		2	PIN1	19	9949152	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	80388	9949152	49179831	9507	14615										
COL5A3	50509	hgsc.bcm.edu	37	chr19	10071347	10071347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcagccatcctgggggaCgctgacagtggctgctgtcg	16	13	0	1	rs2277969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10071347C>T	ENST00000264828.3	-	66	5156	c.5071G>A	c.(5071-5073)Gtc>Atc	p.V1691I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1691	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.		V -> I (in dbSNP:rs2277969).		axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTGGGGGACGCTGACAGTG	0.627													C|||	1267	0.252995	0.385	0.2853	5008	,	,		17190	0.1091		0.1889	False		,,,				2504	0.2658				p.V1691I		Atlas-SNP	.											.	COL5A3	243	.	0			c.G5071A						PASS	.	C	ILE/VAL	1505,2901	476.6+/-357.7	230,1045,928	64	65	65		5071	1.8	0.4	19	dbSNP_100	65	1632,6968	300.4+/-304.9	139,1354,2807	yes	missense	COL5A3	NM_015719.3	29	369,2399,3735	TT,TC,CC		18.9767,34.158,24.1196	benign	1691/1746	10071347	3137,9869	2203	4300	6503	SO:0001583	missense	50509	exon66			GGGGGACGCTGAC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5071G>A	19.37:g.10071347C>T	ENSP00000264828:p.Val1691Ile	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	48	25	0.520833	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	469	0.21474358974358973	176	0.35772357723577236	89	0.24585635359116023	59	0.10314685314685315	145	0.19129287598944592	C	10.12	1.262374	0.23051	0.34158	0.189767	ENSG00000080573	ENST00000264828	T	0.75704	-0.96	4.03	1.81	0.25067	Fibrillar collagen, C-terminal (4);	0.297436	0.26213	U	0.025666	T	0.00012	0.0000	L	0.46157	1.445	0.52501	P	4.300000000001525E-5	B	0.15930	0.015	B	0.10450	0.005	T	0.17684	-1.0361	9	0.41790	T	0.15	.	8.4159	0.32670	0.0:0.7959:0.0:0.2041	rs2277969;rs3207622;rs59814308;rs2277969	1691	P25940	CO5A3_HUMAN	I	1691	ENSP00000264828:V1691I	ENSP00000264828:V1691I	V	-	1	0	COL5A3	9932347	0.747000	0.28283	0.354000	0.25760	0.078000	0.17371	1.637000	0.37155	0.917000	0.36895	0.462000	0.41574	GTC	C|0.770;T|0.230	0.230	strong		0.627	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10071347	C	T	10071347	3	4	22	1	0	0	0	0	1	0	0	0	3698	536	19	1	174	1	COL5A3	19	10071347	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122195	10071347	49057636	9508	14616										
COL5A3	50509	hgsc.bcm.edu	37	chr19	10088271	10088271	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgggcaagtcacttaccCgggaccccttcttgcctgca	11	14	2	0	rs2161468	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10088271C>G	ENST00000264828.3	-	42	3210	c.3125G>C	c.(3124-3126)cGg>cCg	p.R1042P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1042	Triple-helical region.		R -> P (in dbSNP:rs2161468).		axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCACTTACCCGGGACCCCTT	0.642													G|||	1754	0.35024	0.3389	0.2522	5008	,	,		13859	0.3313		0.3946	False		,,,				2504	0.409				p.R1042P		Atlas-SNP	.											.	COL5A3	243	.	0			c.G3125C						PASS	.	G	PRO/ARG	1597,2809	652.3+/-399.4	286,1025,892	40	39	40		3125	2.7	1	19	dbSNP_96	40	3474,5126	618.5+/-396.8	688,2098,1514	yes	missense-near-splice	COL5A3	NM_015719.3	103	974,3123,2406	GG,GC,CC		40.3953,36.246,38.9897	benign	1042/1746	10088271	5071,7935	2203	4300	6503	SO:0001630	splice_region_variant	50509	exon42			CTTACCCGGGACC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3126+1G>C	19.37:g.10088271C>G		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	112	58	0.517857	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	781	0.3576007326007326	182	0.3699186991869919	99	0.27348066298342544	205	0.3583916083916084	295	0.3891820580474934	G	0.033	-1.324178	0.01309	0.36246	0.403953	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.84	2.68	0.31781	.	0.160820	0.41396	N	0.000888	T	0.00012	0.0000	N	0.02876	-0.465	0.49915	P	1.6199999999999548E-4	B	0.16603	0.018	B	0.04013	0.001	T	0.14504	-1.0470	9	0.02654	T	1	.	6.5611	0.22487	0.1698:0.1493:0.6809:0.0	rs2161468;rs52800016;rs2161468	1042	P25940	CO5A3_HUMAN	P	1042	ENSP00000264828:R1042P	ENSP00000264828:R1042P	R	-	2	0	COL5A3	9949271	1.000000	0.71417	0.998000	0.56505	0.114000	0.19823	4.928000	0.63447	0.256000	0.21614	-0.120000	0.15030	CGG	C|0.631;G|0.369	0.369	strong		0.642	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Missense_Mutation	G	10088271	C	G	10088271	5	3	22	1	0	0	0	0	0	0	1	0	3698	666	23	4	2216	4	COL5A3	19	10088271	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16924	10088271	49040712	9509	14617										
RDH8	50700	hgsc.bcm.edu	37	chr19	10131401	10131401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggtgtcatcttcaacgaTgtctatgcagcttccaagtt	8	10	4	0	rs2233796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10131401T>C	ENST00000171214.1	+	4	708	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RDH8_ENST00000591589.1_Silent_p.D173D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	153					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCTTCAACGATGTCTATGCAG	0.567													T|||	93	0.0185703	0.0514	0.013	5008	,	,		16799	0.0		0.0129	False		,,,				2504	0.0031				p.D173D		Atlas-SNP	.											.	RDH8	51	.	0			c.T519C						PASS	.	T		233,4173	136.9+/-172.8	4,225,1974	84	71	76		459	-7	0.3	19	dbSNP_98	76	127,8473	63.5+/-125.6	1,125,4174	no	coding-synonymous	RDH8	NM_015725.2		5,350,6148	CC,CT,TT		1.4767,5.2882,2.768		153/312	10131401	360,12646	2203	4300	6503	SO:0001819	synonymous_variant	50700	exon4			CAACGATGTCTAT	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.459T>C	19.37:g.10131401T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	132	60	0.454545	NM_015725	Q9H838	Silent	SNP	ENST00000171214.1	37																																																																																				T|0.974;C|0.026	0.026	strong		0.567	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				C	10131401	T	C	10131401	2	2	22	1	0	0	0	0	0	0	0	1	13196	1461	51	2		2	RDH8	19	10131401	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	43130	10131401	48997582	9510	14618										
RDH8	50700	hgsc.bcm.edu	37	chr19	10132358	10132358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctcttccgctgtccacGcctcctcaaccttggccttc	5	21	2	0	rs142753796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10132358G>A	ENST00000171214.1	+	6	1118	c.869G>A	c.(868-870)cGc>cAc	p.R290H	RDH8_ENST00000591589.1_Missense_Mutation_p.R310H	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	290					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGCTGTCCACGCCTCCTCAAC	0.607													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17925	0.0		0.0	False		,,,				2504	0.0				p.R310H		Atlas-SNP	.											.	RDH8	51	.	0			c.G929A						PASS	.	G	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	113	108	110		869	0.6	1	19	dbSNP_134	110	0,8600		0,0,4300	yes	missense	RDH8	NM_015725.2	29	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	290/312	10132358	7,12999	2203	4300	6503	SO:0001583	missense	50700	exon6			GTCCACGCCTCCT	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.869G>A	19.37:g.10132358G>A	ENSP00000171214:p.Arg290His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	54	0.568421	NM_015725	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.22	1.874004	0.33069	0.001589	0.0	ENSG00000080511	ENST00000171214	D	0.82803	-1.65	4.23	0.581	0.17407	.	0.728843	0.13435	N	0.388095	T	0.67059	0.2853	N	0.21142	0.635	0.22142	N	0.999337	B	0.11235	0.004	B	0.06405	0.002	T	0.53322	-0.8455	10	0.33940	T	0.23	.	5.0034	0.14275	0.2203:0.3107:0.469:0.0	.	290	Q9NYR8	RDH8_HUMAN	H	290	ENSP00000171214:R290H	ENSP00000171214:R290H	R	+	2	0	RDH8	9993358	0.044000	0.20184	0.991000	0.47740	0.717000	0.41224	1.418000	0.34782	0.730000	0.32425	0.297000	0.19635	CGC	G|0.999;A|0.001	0.001	strong		0.607	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	10132358	G	A	10132358	3	1	22	1	0	0	0	0	1	0	0	0	13196	1087	38	1	891	1	RDH8	19	10132358	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	957	10132358	48996625	9511	14619										
DNMT1	1786	hgsc.bcm.edu	37	chr19	10267077	10267077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattccttaccttcaagagaTgggtcatcatcatagattgg	8	8	4	2	rs2228611	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10267077T>C	ENST00000340748.4	-	17	1576	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	DNMT1_ENST00000540357.1_Silent_p.P447P|DNMT1_ENST00000359526.4_Silent_p.P463P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	447	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTCAAGAGATGGGTCATCAT	0.478													C|||	2674	0.533946	0.5204	0.4539	5008	,	,		15091	0.6488		0.4612	False		,,,				2504	0.5654				p.P463P		Atlas-SNP	.											.	DNMT1	148	.	0			c.A1389G						PASS	.	C	,	2180,2226	591.9+/-387.7	554,1072,577	125	113	117		1389,1341	-11.3	0	19	dbSNP_98	117	4208,4392	584.4+/-391.7	1025,2158,1117	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	1579,3230,1694	CC,CT,TT		48.9302,49.478,49.1158	,	463/1633,447/1617	10267077	6388,6618	2203	4300	6503	SO:0001819	synonymous_variant	1786	exon18			AAGAGATGGGTCA	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1341A>G	19.37:g.10267077T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																			T|0.475;C|0.525	0.525	strong		0.478	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		C	10267077	T	C	10267077	2	2	22	1	0	0	0	0	0	0	0	1	4675	1451	51	2		2	DNMT1	19	10267077	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	134719	10267077	48861906	9512	14620										
ICAM1	3383	hgsc.bcm.edu	37	chr19	10385540	10385540	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctcctgtgaccagcccaAgttgttgggcatagagaccc	10	14	0	2	rs5491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10385540A>T	ENST00000264832.3	+	2	492	c.167A>T	c.(166-168)aAg>aTg	p.K56M	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	56	Ig-like C2-type 1.		K -> M (in Kilifi; at homozygosity it is associated with increased susceptibility to cerebral malaria; dbSNP:rs5491). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:9259284, ECO:0000269|Ref.6}.		adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GACCAGCCCAAGTTGTTGGGC	0.562													a|||	423	0.0844649	0.2504	0.0173	5008	,	,		19414	0.0526		0.007	False		,,,				2504	0.0204				p.K56M		Atlas-SNP	.											.	ICAM1	32	.	0			c.A167T	GRCh37	CM970747	ICAM1	M	rs5491	PASS	.	A	MET/LYS	934,3472	357.6+/-314.0	103,728,1372	99	95	96	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	167	-5.4	0	19	dbSNP_52	96	26,8574	16.6+/-54.9	0,26,4274	yes	missense	ICAM1	NM_000201.2	95	103,754,5646	TT,TA,AA		0.3023,21.1984,7.3812	benign	56/533	10385540	960,12046	2203	4300	6503	SO:0001583	missense	3383	exon2			AGCCCAAGTTGTT		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.167A>T	19.37:g.10385540A>T	ENSP00000264832:p.Lys56Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	114	53	0.464912	NM_000201	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	164	0.07509157509157509	114	0.23170731707317074	7	0.019337016574585635	36	0.06293706293706294	7	0.009234828496042216	a	10.23	1.293021	0.23564	0.211984	0.003023	ENSG00000090339	ENST00000264832	T	0.15487	2.42	4.45	-5.4	0.02656	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	8.976480	0.00166	N	0.000000	T	0.00012	0.0000	N	0.24115	0.695	0.58432	P	5.000000000032756E-6	B	0.22146	0.065	B	0.31442	0.13	T	0.30794	-0.9966	9	0.48119	T	0.1	1.2014	2.5057	0.04645	0.109:0.3535:0.3044:0.2331	rs5491;rs52822152;rs57463344;rs5491	56	P05362	ICAM1_HUMAN	M	56	ENSP00000264832:K56M	ENSP00000264832:K56M	K	+	2	0	ICAM1	10246540	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.205000	0.00559	-1.363000	0.02164	-1.831000	0.00592	AAG	A|0.924;T|0.076	0.076	strong		0.562	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10385540	A	T	10385540	3	4	22	1	0	0	0	0	1	0	0	0	7479	72	3	5	173	5	ICAM1	19	10385540	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	118463	10385540	48743443	9513	14621										
ICAM5	7087	hgsc.bcm.edu	37	chr19	10404588	10404588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaccaaccctcggggctcTgcggccaaaaatgtggccgt	12	15	1	0	rs116688659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10404588T>C	ENST00000221980.4	+	7	1743	c.1680T>C	c.(1678-1680)tcT>tcC	p.S560S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	560	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTCGGGGCTCTGCGGCCAAAA	0.662													T|||	24	0.00479233	0.0182	0.0	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.0				p.S560S		Atlas-SNP	.											.	ICAM5	53	.	0			c.T1680C						PASS	.	T		55,4349	54.2+/-90.2	0,55,2147	42	49	47		1680	-9.2	0	19	dbSNP_132	47	0,8600		0,0,4300	no	coding-synonymous	ICAM5	NM_003259.3		0,55,6447	CC,CT,TT		0.0,1.2489,0.4229		560/925	10404588	55,12949	2202	4300	6502	SO:0001819	synonymous_variant	7087	exon7			GGGCTCTGCGGCC	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1680T>C	19.37:g.10404588T>C		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	36	12	0.333333	NM_003259	Q9Y6F3	Silent	SNP	ENST00000221980.4	37	CCDS12233.1																																																																																			T|0.995;C|0.005	0.005	strong		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		C	10404588	T	C	10404588	2	2	22	1	0	0	0	0	0	0	0	1	7483	1567	55	3		3	ICAM5	19	10404588	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19048	10404588	48724395	9514	14622										
ICAM5	7087	hgsc.bcm.edu	37	chr19	10407169	10407169	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggcgaggccgtgtgtctGaacggagcgggcggcggcgc	20	11	2	1	rs710845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10407169G>C	ENST00000221980.4	+	11	2715	c.2652G>C	c.(2650-2652)ctG>ctC	p.L884L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	884					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGTGTCTGAACGGAgcgg	0.771													C|||	2557	0.510583	0.5681	0.6455	5008	,	,		6247	0.3313		0.5895	False		,,,				2504	0.4407				p.L884L		Atlas-SNP	.											.	ICAM5	53	.	0			c.G2652C						PASS	.	C		1682,962		566,550,206	4	3	3		2652	0.5	1	19	dbSNP_86	3	2905,1749		979,947,401	no	coding-synonymous	ICAM5	NM_003259.3		1545,1497,607	CC,CG,GG		37.5806,36.3843,37.1472		884/925	10407169	4587,2711	1322	2327	3649	SO:0001819	synonymous_variant	7087	exon11			GTGTCTGAACGGA	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2652G>C	19.37:g.10407169G>C		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_003259	Q9Y6F3	Silent	SNP	ENST00000221980.4	37	CCDS12233.1																																																																																			G|0.499;C|0.501	0.501	strong		0.771	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		C	10407169	G	C	10407169	2	2	22	1	0	0	0	0	0	0	0	1	7483	1277	45	4		4	ICAM5	19	10407169	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2581	10407169	48721814	9515	14623										
ICAM3	3385	hgsc.bcm.edu	37	chr19	10444603	10444603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgtgaggggcagataggtgCtctcctccctaacatggtaa	12	10	1	2	rs2230399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10444603C>G	ENST00000160262.5	-	7	1782	c.1574G>C	c.(1573-1575)aGc>aCc	p.S525T	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.S448T	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	525			S -> T (in dbSNP:rs2230399).		extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGATAGGTGCTCTCCTCCCT	0.582													C|||	494	0.0986422	0.2383	0.0346	5008	,	,		14915	0.003		0.0755	False		,,,				2504	0.0777				p.S525T		Atlas-SNP	.											ICAM3,NS,adenoma,0,1	ICAM3	29	1	0			c.G1574C						PASS	.	C	THR/SER	880,3526	344.1+/-307.9	82,716,1405	194	163	174		1574	1	0	19	dbSNP_98	174	726,7874	177.2+/-226.9	26,674,3600	yes	missense	ICAM3	NM_002162.3	58	108,1390,5005	GG,GC,CC		8.4419,19.9728,12.3481	possibly-damaging	525/548	10444603	1606,11400	2203	4300	6503	SO:0001583	missense	3385	exon7			TAGGTGCTCTCCT		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1574G>C	19.37:g.10444603C>G	ENSP00000160262:p.Ser525Thr	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	233	233	1	NM_002162	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	195	0.08928571428571429	124	0.25203252032520324	15	0.04143646408839779	1	0.0017482517482517483	55	0.07255936675461741	C	11.53	1.667187	0.29604	0.199728	0.084419	ENSG00000076662	ENST00000160262	T	0.02606	4.23	4.39	0.959	0.19624	.	1.288390	0.05251	N	0.513919	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	P	0.39480	0.675	B	0.28553	0.091	T	0.48833	-0.9000	9	0.34782	T	0.22	-4.6196	4.6192	0.12442	0.0:0.6156:0.1808:0.2037	rs2230399;rs2230399	525	P32942	ICAM3_HUMAN	T	525	ENSP00000160262:S525T	ENSP00000160262:S525T	S	-	2	0	ICAM3	10305603	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	-0.193000	0.09573	0.197000	0.20387	-0.291000	0.09656	AGC	C|0.889;G|0.111	0.111	strong		0.582	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			G	10444603	C	G	10444603	3	3	22	1	0	0	0	0	1	0	0	0	7481	797	28	4	73	4	ICAM3	19	10444603	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37434	10444603	48684380	9516	14624										
ICAM3	3385	hgsc.bcm.edu	37	chr19	10446568	10446568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctggtccggggcgacccaTcctccacttggcagcgcagg	15	15	0	0	rs2304237	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10446568T>C	ENST00000160262.5	-	3	636	c.428A>G	c.(427-429)gAt>gGt	p.D143G	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.D66G	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	143	Ig-like C2-type 2.		D -> G (in dbSNP:rs2304237). {ECO:0000269|PubMed:1448173, ECO:0000269|PubMed:1448174, ECO:0000269|PubMed:8459213}.		extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GGGCGACCCATCCTCCACTTG	0.697													C|||	899	0.179513	0.1407	0.1744	5008	,	,		15342	0.1131		0.2336	False		,,,				2504	0.2485				p.D143G		Atlas-SNP	.											.	ICAM3	29	.	0			c.A428G						PASS	.	C	GLY/ASP	721,3681		55,611,1535	15	16	15		428	5	0	19	dbSNP_100	15	1901,6689		230,1441,2624	yes	missense	ICAM3	NM_002162.3	94	285,2052,4159	CC,CT,TT		22.1304,16.3789,20.1817	benign	143/548	10446568	2622,10370	2201	4295	6496	SO:0001583	missense	3385	exon3			GACCCATCCTCCA		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.428A>G	19.37:g.10446568T>C	ENSP00000160262:p.Asp143Gly	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	32	32	1	NM_002162	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	383	0.17536630036630035	61	0.12398373983739837	70	0.19337016574585636	68	0.11888111888111888	184	0.24274406332453827	C	3.139	-0.176746	0.06380	0.163789	0.221304	ENSG00000076662	ENST00000160262	T	0.04083	3.71	4.98	4.98	0.66077	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240354	0.35739	N	0.003008	T	0.00012	0.0000	N	0.00023	-2.72	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35847	-0.9772	9	0.02654	T	1	-18.3636	9.9304	0.41519	0.0:0.9044:0.0:0.0956	rs2304237;rs59711512;rs2304237	66;143	B7Z6W6;P32942	.;ICAM3_HUMAN	G	143	ENSP00000160262:D143G	ENSP00000160262:D143G	D	-	2	0	ICAM3	10307568	0.005000	0.15991	0.026000	0.17262	0.003000	0.03518	0.596000	0.24044	1.249000	0.43950	-0.227000	0.12334	GAT	T|0.817;C|0.183	0.183	strong		0.697	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			C	10446568	T	C	10446568	3	2	22	1	0	0	0	0	1	0	0	0	7481	1435	50	2	1235	2	ICAM3	19	10446568	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1965	10446568	48682415	9517	14625										
ICAM3	3385	hgsc.bcm.edu	37	chr19	10449358	10449358	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccggacacgtcgactcacTgtacacggtgatgttagagg	12	11	1	2	rs7258015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10449358T>C	ENST00000160262.5	-	2	551	c.343A>G	c.(343-345)Agg>Ggg	p.R115G	ICAM3_ENST00000589261.1_Splice_Site_p.R38G	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	115			R -> G (in dbSNP:rs7258015). {ECO:0000269|PubMed:1448174, ECO:0000269|PubMed:8459213}.		extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GTCGACTCACTGTACACGGTG	0.547													T|||	896	0.178914	0.1392	0.1744	5008	,	,		19949	0.1141		0.2356	False		,,,				2504	0.2444				p.R115G		Atlas-SNP	.											ICAM3,colon,carcinoma,0,1	ICAM3	29	1	0			c.A343G						PASS	.	T	GLY/ARG	745,3661	304.1+/-288.3	56,633,1514	76	59	65		343	-11.5	0	19	dbSNP_116	65	1967,6633	344.9+/-325.5	238,1491,2571	yes	missense-near-splice	ICAM3	NM_002162.3	125	294,2124,4085	CC,CT,TT		22.8721,16.9088,20.8519	benign	115/548	10449358	2712,10294	2203	4300	6503	SO:0001630	splice_region_variant	3385	exon2			ACTCACTGTACAC		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.343+1A>G	19.37:g.10449358T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_002162	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	382	0.1749084249084249	58	0.11788617886178862	69	0.19060773480662985	70	0.12237762237762238	185	0.24406332453825857	T	12.32	1.901485	0.33535	0.169088	0.228721	ENSG00000076662	ENST00000160262	T	0.24350	1.86	5.75	-11.5	0.00074	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.854576	0.10072	N	0.719602	T	0.00012	0.0000	L	0.27053	0.805	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.20739	-1.0266	8	.	.	.	-3.8943	6.787	0.23679	0.0633:0.391:0.1209:0.4248	rs7258015;rs58067369;rs7258015	38;115	B7Z6W6;P32942	.;ICAM3_HUMAN	G	115	ENSP00000160262:R115G	.	R	-	1	2	ICAM3	10310358	0.022000	0.18835	0.001000	0.08648	0.172000	0.22775	-2.406000	0.01044	-2.000000	0.00965	-0.213000	0.12676	AGG	T|0.809;C|0.191	0.191	strong		0.547	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1		Missense_Mutation	C	10449358	T	C	10449358	5	2	22	1	0	0	0	0	0	0	1	0	7481	1594	55	3	1324	3	ICAM3	19	10449358	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2790	10449358	48679625	9518	14626										
KEAP1	9817	hgsc.bcm.edu	37	chr19	10610236	10610236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgatctggtacatgacagcAccgttcatgacgtggaggac	12	10	2	2	rs1048287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10610236A>G	ENST00000171111.5	-	2	1021	c.474T>C	c.(472-474)ggT>ggC	p.G158G	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.G158G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	158					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACATGACAGCACCGTTCATGA	0.582													G|||	409	0.0816693	0.1914	0.0562	5008	,	,		21654	0.001		0.1074	False		,,,				2504	0.0082				p.G158G		Atlas-SNP	.											.	KEAP1	182	.	0			c.T474C						PASS	.	G	,	798,3608	750.7+/-412.1	68,662,1473	184	145	158		474,474	-9.6	0.1	19	dbSNP_86	158	822,7778	782.1+/-407.6	42,738,3520	no	coding-synonymous,coding-synonymous	KEAP1	NM_012289.3,NM_203500.1	,	110,1400,4993	GG,GA,AA		9.5581,18.1117,12.4558	,	158/625,158/625	10610236	1620,11386	2203	4300	6503	SO:0001819	synonymous_variant	9817	exon2			GACAGCACCGTTC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.474T>C	19.37:g.10610236A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																			A|0.885;G|0.115	0.115	strong		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		G	10610236	A	G	10610236	2	3	22	1	0	0	0	0	0	0	0	1	8141	146	6	2		2	KEAP1	19	10610236	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	160878	10610236	48518747	9519	14627										
S1PR5	53637	hgsc.bcm.edu	37	chr19	10625067	10625067	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcgcgtagagtgcacagatAgcggccaggatgcccacgaa	14	12	0	2	rs6511701	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10625067A>C	ENST00000439028.3	-	2	746	c.621T>G	c.(619-621)gcT>gcG	p.A207A	S1PR5_ENST00000333430.4_Silent_p.A207A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	207					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GTGCACAGATAGCGGCCAGGA	0.692													C|||	4078	0.814297	0.7602	0.8386	5008	,	,		14935	0.7847		0.8022	False		,,,				2504	0.9131				p.A207A		Atlas-SNP	.											S1PR5,NS,carcinoma,0,1	S1PR5	33	1	0			c.T621G						PASS	.	C	,	3368,1028		1302,764,132	26	23	24		621,621	-2.1	0.3	19	dbSNP_116	24	6744,1850		2646,1452,199	no	coding-synonymous,coding-synonymous	S1PR5	NM_001166215.1,NM_030760.4	,	3948,2216,331	CC,CA,AA		21.5266,23.3849,22.1555	,	207/399,207/399	10625067	10112,2878	2198	4297	6495	SO:0001819	synonymous_variant	53637	exon2			ACAGATAGCGGCC	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.621T>G	19.37:g.10625067A>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	67	67	1	NM_030760	Q6NW11	Silent	SNP	ENST00000439028.3	37	CCDS12240.1																																																																																			A|0.222;C|0.778	0.778	strong		0.692	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		C	10625067	A	C	10625067	2	2	22	1	0	0	0	0	0	0	0	1	13797	407	15	5		5	S1PR5	19	10625067	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14831	10625067	48503916	9520	14628										
KRI1	65095	hgsc.bcm.edu	37	chr19	10672493	10672493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgattggaagtctcccCgtctgagttctcctcatcaa	8	12	6	2	rs12984043|rs34229707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10672493C>T	ENST00000312962.6	-	5	449	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Missense_Mutation_p.G140R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	138	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.G144R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GAAGTCTCCCCGTCTGAGTTC	0.592													C|||	1310	0.261581	0.1362	0.2522	5008	,	,		11668	0.2034		0.4036	False		,,,				2504	0.3517				p.G144R		Atlas-SNP	.											KRI1,NS,carcinoma,0,1	KRI1	65	1	1	Substitution - Missense(1)	stomach(1)	c.G430A						PASS	.	C	ARG/GLY	756,3650	307.7+/-290.2	61,634,1508	80	88	85		430	1.7	0.4	19	dbSNP_121	85	3265,5335	487.5+/-372.1	594,2077,1629	yes	missense	KRI1	NM_023008.3	125	655,2711,3137	TT,TC,CC		37.9651,17.1584,30.9165	benign	144/710	10672493	4021,8985	2203	4300	6503	SO:0001583	missense	65095	exon5			TCTCCCCGTCTGA		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.430G>A	19.37:g.10672493C>T	ENSP00000320917:p.Gly144Arg	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	113	52	0.460177	NM_023008	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	586	0.2683150183150183	69	0.1402439024390244	109	0.3011049723756906	107	0.18706293706293706	301	0.3970976253298153	C	6.809	0.518267	0.13005	0.171584	0.379651	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.32023	1.47;1.47;1.47	4.05	1.67	0.24075	.	0.426594	0.23189	N	0.050931	T	0.00012	0.0000	L	0.59436	1.845	0.41381	P	0.012442999999999982	B;B	0.20988	0.028;0.05	B;B	0.10450	0.005;0.005	T	0.44605	-0.9317	9	0.21540	T	0.41	-36.7837	8.1253	0.30995	0.1643:0.6526:0.1831:0.0	rs12984043;rs17677304;rs52822002;rs56722461;rs12984043	144;140	Q8N9T8;D3YTE0	KRI1_HUMAN;.	R	144;140;144;135	ENSP00000320917:G144R;ENSP00000355366:G140R;ENSP00000445789:G135R	ENSP00000320917:G144R	G	-	1	0	KRI1	10533493	0.956000	0.32656	0.384000	0.26145	0.042000	0.13812	3.193000	0.50997	0.888000	0.36160	-0.521000	0.04368	GGG	C|0.715;T|0.285	0.285	strong		0.592	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		T	10672493	C	T	10672493	3	4	22	1	0	0	0	0	1	0	0	0	8444	652	23	1	1759	1	KRI1	19	10672493	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47426	10672493	48456490	9521	14629										
SLC44A2	57153	hgsc.bcm.edu	37	chr19	10713212	10713212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccccgccgcggccatggaGgacgagcggaaaaacggagc	16	14	0	0	rs115559926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:10713212G>A	ENST00000407327.4	+	1	27	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_001145056.1	NP_001138528.1	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	2					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCCATGGAGGACGAGCGGA	0.771													G|||	86	0.0171725	0.0643	0.0014	5008	,	,		6430	0.0		0.0	False		,,,				2504	0.0				p.E2E		Atlas-SNP	.											.	SLC44A2	56	.	0			c.G6A						PASS	.						7	12	11					19																	10713212		643	1532	2175	SO:0001819	synonymous_variant	57153	exon1			CATGGAGGACGAG	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000407327.4:c.6G>A	19.37:g.10713212G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	21	13	0.619048	NM_001145056	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000407327.4	37	CCDS54216.1																																																																																			G|0.986;A|0.014	0.014	strong		0.771	SLC44A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452044.1			A	10713212	G	A	10713212	2	1	22	1	0	0	0	0	0	0	0	1	14636	991	35	2		2	SLC44A2	19	10713212	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40719	10713212	48415771	9522	14630										
SMARCA4	6597	hgsc.bcm.edu	37	chr19	11094903	11094903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctggcccttcccctggaGccatgctgggccctagcccg	12	19	0	0	rs145867502		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11094903G>A	ENST00000429416.3	+	3	357	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	SMARCA4_ENST00000413806.3_Missense_Mutation_p.A26T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A26T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A26T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A26T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A26T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A26T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A26T|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A26T	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	26	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCCCTGGAGCCATGCTGGG	0.721			"F, N, Mis"		NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		15706	0.0		0.0	False		,,,				2504	0.0				p.A26T		Atlas-SNP	.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	SMARCA4	502	.	1	Unknown(1)	lung(1)	c.G76A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	12,4366		0,12,2177	19	24	23		76,76,76,76,76,76,76	4.9	1	19	dbSNP_134	23	0,8566		0,0,4283	no	missense,missense,missense,missense,missense,missense,missense	SMARCA4	NM_003072.3,NM_001128849.1,NM_001128848.1,NM_001128847.1,NM_001128846.1,NM_001128845.1,NM_001128844.1	58,58,58,58,58,58,58	0,12,6460	AA,AG,GG		0.0,0.2741,0.0927	benign,benign,benign,benign,benign,benign,benign	26/1648,26/1680,26/1614,26/1615,26/1617,26/1618,26/1648	11094903	12,12932	2189	4283	6472	SO:0001583	missense	6597	exon2			CCTGGAGCCATGC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.76G>A	19.37:g.11094903G>A	ENSP00000395654:p.Ala26Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.144345	0.77888	0.002741	0.0	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86956	-2.18;-2.19;-2.18;-2.17;-2.17;-2.18;-2.17	4.95	4.95	0.65309	.	0.130808	0.49305	D	0.000154	D	0.82879	0.5133	L	0.36672	1.1	0.48087	D	0.999582	B;B;B;B;B;B;B	0.10296	0.003;0.003;0.003;0.0;0.003;0.001;0.003	B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.001;0.003	T	0.79579	-0.1745	10	0.66056	D	0.02	-16.4285	17.1334	0.86732	0.0:0.0:1.0:0.0	.	26;26;26;26;26;26;26	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	T	26	ENSP00000395654:A26T;ENSP00000350720:A26T;ENSP00000343896:A26T;ENSP00000445036:A26T;ENSP00000392837:A26T;ENSP00000397783:A26T;ENSP00000414727:A26T	ENSP00000343896:A26T	A	+	1	0	SMARCA4	10955903	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	2.131000	0.42074	2.563000	0.86464	0.655000	0.94253	GCC	G|0.999;A|0.001	0.001	strong		0.721	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11094903	G	A	11094903	3	1	22	1	0	0	0	0	1	0	0	0	14770	971	34	2	78	2	SMARCA4	19	11094903	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	381691	11094903	48034080	9523	14631										
LDLR	3949	hgsc.bcm.edu	37	chr19	11222300	11222300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctggacccccacacgaagGcctgcaaggctgtgggtgag	15	12	0	1	rs11669576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11222300G>A	ENST00000558518.1	+	8	1358	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	LDLR_ENST00000558013.1_Missense_Mutation_p.A391T|LDLR_ENST00000557933.1_Missense_Mutation_p.A391T|LDLR_ENST00000455727.2_Missense_Mutation_p.A223T|LDLR_ENST00000545707.1_Missense_Mutation_p.A264T|LDLR_ENST00000535915.1_Missense_Mutation_p.A350T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	391	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> T (in dbSNP:rs11669576).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCACACGAAGGCCTGCAAGGC	0.642													G|||	339	0.0676917	0.202	0.0375	5008	,	,		16827	0.0		0.0437	False		,,,				2504	0.002				p.A391T	GBM(18;201 575 7820 21545)	Atlas-SNP	.											.	LDLR	72	.	1	Unknown(1)	lung(1)	c.G1171A	GRCh37	CM014366	LDLR	M	rs11669576	PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	762,3644	304.6+/-288.6	78,606,1519	41	40	40		1171,1171,1048,667,808,790	-0.8	0.1	19	dbSNP_120	40	416,8184	127.8+/-186.1	15,386,3899	yes	missense,missense,missense,missense,missense,missense	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	58,58,58,58,58,58	93,992,5418	AA,AG,GG		4.8372,17.2946,9.0574	benign,benign,benign,benign,benign,benign	391/861,391/859,350/820,223/693,270/740,264/683	11222300	1178,11828	2203	4300	6503	SO:0001583	missense	3949	exon8			ACGAAGGCCTGCA	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1171G>A	19.37:g.11222300G>A	ENSP00000454071:p.Ala391Thr	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	47	27	0.574468	NM_001195798	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	165	0.07554945054945054	116	0.23577235772357724	15	0.04143646408839779	0	0.0	34	0.044854881266490766	G	0.031	-1.331617	0.01298	0.172946	0.048372	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.91894	-2.93;-2.93;-2.93	5.56	-0.825	0.10809	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.361880	0.23079	N	0.052177	T	0.00039	0.0001	N	0.00045	-2.45	0.48452	P	3.4599999999995745E-4	B;B;B;B;B;B	0.12013	0.005;0.002;0.005;0.003;0.005;0.005	B;B;B;B;B;B	0.21360	0.009;0.023;0.034;0.023;0.034;0.034	T	0.48305	-0.9047	9	0.05620	T	0.96	.	3.2134	0.06690	0.4419:0.0:0.2395:0.3186	rs11669576;rs11669576	223;264;270;350;403;391	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	T	391;264;350;223	ENSP00000437639:A264T;ENSP00000440520:A350T;ENSP00000397829:A223T	ENSP00000252444:A391T	A	+	1	0	LDLR	11083300	0.000000	0.05858	0.134000	0.22075	0.182000	0.23217	-0.187000	0.09656	0.036000	0.15547	0.591000	0.81541	GCC	G|0.916;A|0.084	0.084	strong		0.642	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11222300	G	A	11222300	3	1	22	1	0	0	0	0	1	0	0	0	8704	1203	42	2	1201	2	LDLR	19	11222300	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	127397	11222300	47906683	9524	14632										
LDLR	3949	hgsc.bcm.edu	37	chr19	11224265	11224265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgacaccgtcatcagcagAgacatccaggcccccgacgg	10	15	2	2	rs5930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11224265A>G	ENST00000558518.1	+	10	1600	c.1413A>G	c.(1411-1413)agA>agG	p.R471R	LDLR_ENST00000558013.1_Silent_p.R471R|LDLR_ENST00000557933.1_Silent_p.R471R|LDLR_ENST00000455727.2_Silent_p.R303R|LDLR_ENST00000545707.1_Silent_p.R344R|LDLR_ENST00000535915.1_Silent_p.R430R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	471			R -> G (found in a patient with hypercholesterolemia). {ECO:0000269|PubMed:21418584}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TCATCAGCAGAGACATCCAGG	0.607													G|||	3280	0.654952	0.7504	0.7147	5008	,	,		18170	0.5952		0.5785	False		,,,				2504	0.6237				p.R471R	GBM(18;201 575 7820 21545)	Atlas-SNP	.											LDLR,NS,carcinoma,0,1	LDLR	72	1	1	Unknown(1)	lung(1)	c.A1413G						PASS	.	G	,,,,,	3241,1165	409.1+/-334.9	1190,861,152	48	46	47		1413,1413,1290,909,1050,1032	-2.2	0	19	dbSNP_52	47	5299,3301	491.0+/-373.0	1628,2043,629	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	,,,,,	2818,2904,781	GG,GA,AA		38.3837,26.4412,34.338	,,,,,	471/861,471/859,430/820,303/693,350/740,344/683	11224265	8540,4466	2203	4300	6503	SO:0001819	synonymous_variant	3949	exon10			CAGCAGAGACATC	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1413A>G	19.37:g.11224265A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	78	36	0.461538	NM_001195798	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	CCDS12254.1																																																																																			A|0.345;G|0.655	0.655	strong		0.607	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			G	11224265	A	G	11224265	2	3	22	1	0	0	0	0	0	0	0	1	8704	301	11	3		3	LDLR	19	11224265	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1965	11224265	47904718	9525	14633										
KANK2	25959	hgsc.bcm.edu	37	chr19	11289073	11289073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggtgggccgtggggtctgCaacctcctctttccgtttca	12	14	3	0	rs115473443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11289073C>T	ENST00000586659.1	-	6	1782	c.1468G>A	c.(1468-1470)Gca>Aca	p.A490T	KANK2_ENST00000589894.1_Missense_Mutation_p.A490T|KANK2_ENST00000355150.5_Missense_Mutation_p.A490T|KANK2_ENST00000589359.1_Missense_Mutation_p.A498T|KANK2_ENST00000432929.2_Missense_Mutation_p.A498T			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	490					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGGGGTCTGCAACCTCCTCT	0.667													c|||	79	0.0157748	0.0575	0.0043	5008	,	,		10474	0.0		0.0	False		,,,				2504	0.0				p.A498T		Atlas-SNP	.											.	KANK2	47	.	0			c.G1492A						PASS	.		THR/ALA,THR/ALA	194,4212	115.9+/-153.8	4,186,2013	24	27	26		1468,1492	-3	0	19	dbSNP_132	26	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	58,58	4,190,6309	TT,TC,CC		0.0465,4.4031,1.5224	benign,benign	490/852,498/860	11289073	198,12808	2203	4300	6503	SO:0001583	missense	25959	exon4			GGTCTGCAACCTC	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1468G>A	19.37:g.11289073C>T	ENSP00000465650:p.Ala490Thr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	30	0.013736263736263736	26	0.052845528455284556	4	0.011049723756906077	0	0.0	0	0.0	C	6.571	0.473652	0.12521	0.044031	4.65E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39406	1.08;1.1	5.45	-3.0	0.05480	.	0.449602	0.22279	N	0.062158	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.08186	-1.0734	10	0.23891	T	0.37	-18.7177	6.2347	0.20756	0.1484:0.1981:0.0:0.6536	.	490;498	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	T	498;490	ENSP00000395650:A498T;ENSP00000347276:A490T	ENSP00000347276:A490T	A	-	1	0	KANK2	11150073	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.342000	0.02645	-0.503000	0.06586	-0.144000	0.13903	GCA	C|0.985;T|0.015	0.015	strong		0.667	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		T	11289073	C	T	11289073	3	4	22	1	0	0	0	0	1	0	0	0	7977	710	25	2	1119	2	KANK2	19	11289073	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64808	11289073	47839910	9526	14634										
KANK2	25959	hgsc.bcm.edu	37	chr19	11289129	11289129	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgggggcccgcctggaGgggaggacagcggaggtgct	21	11	0	0	rs114414326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11289129G>A	ENST00000586659.1	-	6	1732				KANK2_ENST00000432929.2_Missense_Mutation_p.P479L|KANK2_ENST00000589894.1_Intron|KANK2_ENST00000589359.1_Missense_Mutation_p.P479L|KANK2_ENST00000355150.5_Intron			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2						apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCGCCTGGAGGGGAGGACAG	0.677													G|||	79	0.0157748	0.0575	0.0043	5008	,	,		11402	0.0		0.0	False		,,,				2504	0.0				p.P479L		Atlas-SNP	.											.	KANK2	47	.	0			c.C1436T						PASS	.	G	,LEU/PRO	191,4215		4,183,2016	20	25	23		,1436	4.4	0	19	dbSNP_132	23	4,8590		0,4,4293	yes	intron,missense	KANK2	NM_001136191.2,NM_015493.6	,98	4,187,6309	AA,AG,GG		0.0465,4.335,1.5	,	,479/860	11289129	195,12805	2203	4297	6500	SO:0001627	intron_variant	25959	exon4			CCTGGAGGGGAGG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1418-6C>T	19.37:g.11289129G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	39	0.4875	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	30	0.013736263736263736	26	0.052845528455284556	4	0.011049723756906077	0	0.0	0	0.0	G	15.34	2.803527	0.50315	0.04335	4.65E-4	ENSG00000197256	ENST00000432929	T	0.34472	1.36	5.45	4.39	0.52855	.	.	.	.	.	T	0.04092	0.0114	.	.	.	0.26307	N	0.977885	P	0.38827	0.649	B	0.32677	0.15	T	0.01776	-1.1276	8	0.31617	T	0.26	.	11.8895	0.52620	0.0841:0.0:0.9159:0.0	.	479	Q63ZY3-2	.	L	479	ENSP00000395650:P479L	ENSP00000395650:P479L	P	-	2	0	KANK2	11150129	0.745000	0.28261	0.002000	0.10522	0.180000	0.23129	1.956000	0.40382	1.283000	0.44513	0.655000	0.94253	CCT	G|0.990;A|0.010	0.010	strong		0.677	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		A	11289129	G	A	11289129	1	1	22	0	1	0	0	0	0	0	0	0	7977	1000	35	2		2	KANK2	19	11289129	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56	11289129	47839854	9527	14635										
KANK2	25959	hgsc.bcm.edu	37	chr19	11289307	11289307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgggctcctgggtgggcaCtcggcctgtgctcttctcag	16	12	2	0	rs149142528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11289307C>T	ENST00000586659.1	-	5	1653	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	KANK2_ENST00000589894.1_Missense_Mutation_p.V447M|KANK2_ENST00000355150.5_Missense_Mutation_p.V447M|KANK2_ENST00000589359.1_Missense_Mutation_p.V447M|KANK2_ENST00000432929.2_Missense_Mutation_p.V447M			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	447					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGTGGGCACTCGGCCTGTG	0.672													C|||	79	0.0157748	0.0575	0.0043	5008	,	,		12124	0.0		0.0	False		,,,				2504	0.0				p.V447M		Atlas-SNP	.											.	KANK2	47	.	0			c.G1339A						PASS	.	C	MET/VAL,MET/VAL	197,4209	123.7+/-161.0	4,189,2010	42	44	43		1339,1339	1.1	0	19	dbSNP_134	43	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	21,21	4,193,6306	TT,TC,CC		0.0465,4.4712,1.5454	benign,benign	447/852,447/860	11289307	201,12805	2203	4300	6503	SO:0001583	missense	25959	exon3			TGGGCACTCGGCC	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1339G>A	19.37:g.11289307C>T	ENSP00000465650:p.Val447Met	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	30	0.013736263736263736	26	0.052845528455284556	4	0.011049723756906077	0	0.0	0	0.0	C	9.193	1.026620	0.19512	0.044712	4.65E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37411	1.2;1.2	3.5	1.14	0.20703	.	2.220440	0.02225	N	0.064340	T	0.06050	0.0157	L	0.42245	1.32	0.09310	N	1	B;B	0.28512	0.214;0.001	B;B	0.22753	0.041;0.006	T	0.12142	-1.0559	10	0.46703	T	0.11	-28.0739	7.049	0.25063	0.1975:0.6112:0.1913:0.0	.	447;447	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	M	447	ENSP00000395650:V447M;ENSP00000347276:V447M	ENSP00000347276:V447M	V	-	1	0	KANK2	11150307	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.164000	0.09983	0.241000	0.21283	0.467000	0.42956	GTG	C|0.987;T|0.013	0.013	strong		0.672	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		T	11289307	C	T	11289307	3	4	22	1	0	0	0	0	1	0	0	0	7977	565	20	2	1276	2	KANK2	19	11289307	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178	11289307	47839676	9528	14636										
LOC55908	55908	hgsc.bcm.edu	37	chr19	11350340	11350340	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcctgctctgtgcctgctCtgggccctggcaatggtgac	14	13	2	1	rs892066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11350340C>G	ENST00000252453.8	+	1	46	c.27C>G	c.(25-27)ctC>ctG	p.L9L	C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000294618.7_Intron|DOCK6_ENST00000319867.7_5'Flank	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	9					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						TGTGCCTGCTCTGGGCCCTGG	0.622													G|||	1875	0.374401	0.8101	0.255	5008	,	,		18798	0.3115		0.1093	False		,,,				2504	0.2076				p.L9L		Atlas-SNP	.											.	C19orf80	8	.	0			c.C27G						PASS	.	G	,	2763,1365		932,899,233	34	35	35		27,	-3.2	0.2	19	dbSNP_86	35	1149,7247		92,965,3141	no	coding-synonymous,intron	C19orf80,DOCK6	NM_018687.6,NM_020812.2	,	1024,1864,3374	GG,GC,CC		13.6851,33.0669,31.236	,	9/199,	11350340	3912,8612	2064	4198	6262	SO:0001819	synonymous_variant	55908	exon1			CCTGCTCTGGGCC		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"lipasin", "betatrophin"					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.27C>G	19.37:g.11350340C>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	180	180	1	NM_018687	Q9NQZ1	Silent	SNP	ENST00000252453.8	37	CCDS54220.1																																																																																			C|0.688;G|0.312	0.312	strong		0.622	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687		G	11350340	C	G	11350340	2	3	22	1	0	0	0	0	0	0	0	1	8881	900	32	4		4	LOC55908	19	11350340	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61033	11350340	47778643	9529	14637										
RAB3D	9545	hgsc.bcm.edu	37	chr19	11436221	11436221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctcgaagacctgcttcacAttgatgttctccttggcact	8	13	2	2	rs12981706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11436221A>G	ENST00000222120.3	-	5	773	c.513T>C	c.(511-513)aaT>aaC	p.N171N	RAB3D_ENST00000589655.1_Silent_p.N171N|CTC-510F12.4_ENST00000586356.1_RNA|CTC-510F12.6_ENST00000586051.1_RNA|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	171					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CCTGCTTCACATTGATGTTCT	0.557													A|||	286	0.0571086	0.1762	0.0187	5008	,	,		14659	0.0		0.0318	False		,,,				2504	0.0082				p.N171N		Atlas-SNP	.											.	RAB3D	24	.	0			c.T513C						PASS	.	A	,	617,3789	268.6+/-268.5	43,531,1629	146	132	136		513,	-6.2	1	19	dbSNP_121	136	293,8307	108.0+/-168.7	3,287,4010	no	coding-synonymous,intron	RAB3D,TSPAN16	NM_004283.3,NM_012466.2	,	46,818,5639	GG,GA,AA		3.407,14.0036,6.9968	,	171/220,	11436221	910,12096	2203	4300	6503	SO:0001819	synonymous_variant	9545	exon5			CTTCACATTGATG	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.513T>C	19.37:g.11436221A>G		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	48	16	0.333333	NM_004283		Silent	SNP	ENST00000222120.3	37	CCDS12257.1																																																																																			A|0.939;G|0.061;T|0.000	0.061	strong		0.557	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		G	11436221	A	G	11436221	2	3	22	1	0	0	0	0	0	0	0	1	12934	214	8	2		2	RAB3D	19	11436221	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85881	11436221	47692762	9530	14638										
EPOR	2057	hgsc.bcm.edu	37	chr19	11489049	11489049	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggaggtcctcactgggcgGgttccggggcagcaaccatt	16	11	1	0	rs35423344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11489049G>C	ENST00000222139.6	-	8	1242	c.1138C>G	c.(1138-1140)Ccg>Gcg	p.P380A	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	380			P -> A (in dbSNP:rs35423344).		brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCACTGGGCGGGTTCCGGGGC	0.617											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	306	0.0611022	0.2231	0.0144	5008	,	,		17759	0.0		0.001	False		,,,				2504	0.0				p.P380A		Atlas-SNP	.											.	EPOR	26	.	0			c.C1138G						PASS	.	G	ALA/PRO	863,3543	335.5+/-303.9	79,705,1419	58	56	57		1138	4.5	0.2	19	dbSNP_126	57	11,8589	6.4+/-24.3	0,11,4289	yes	missense	EPOR	NM_000121.3	27	79,716,5708	CC,CG,GG		0.1279,19.5869,6.72	probably-damaging	380/509	11489049	874,12132	2203	4300	6503	SO:0001583	missense	2057	exon8			TGGGCGGGTTCCG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1138C>G	19.37:g.11489049G>C	ENSP00000222139:p.Pro380Ala	Somatic	32	0	0	672	WXS	Illumina HiSeq	Phase_I	34	19	0.558824	NM_000121	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	CCDS12260.1	109	0.04990842490842491	105	0.21341463414634146	4	0.011049723756906077	0	0.0	0	0.0	G	10.08	1.251233	0.22880	0.195869	0.001279	ENSG00000187266	ENST00000222139	T	0.59364	0.27	4.51	4.51	0.55191	.	0.229422	0.36778	N	0.002409	T	0.00109	0.0003	M	0.67953	2.075	0.42246	P	0.008044000000000051	D	0.76494	0.999	P	0.60609	0.877	T	0.11591	-1.0581	9	0.14656	T	0.56	-28.7314	12.5811	0.56391	0.0:0.0:1.0:0.0	rs35423344;rs57359971	380	P19235	EPOR_HUMAN	A	380	ENSP00000222139:P380A	ENSP00000222139:P380A	P	-	1	0	EPOR	11350049	0.629000	0.27146	0.196000	0.23383	0.027000	0.11550	3.028000	0.49705	2.320000	0.78422	0.650000	0.86243	CCG	G|0.941;C|0.059	0.059	strong		0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			C	11489049	G	C	11489049	3	2	22	1	0	0	0	0	1	0	0	0	5189	1232	43	4	392	4	EPOR	19	11489049	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52828	11489049	47639934	9531	14639										
RGL3	57139	hgsc.bcm.edu	37	chr19	11516007	11516007	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccccagctcaccggctcacTgccccccagctgcgcttgag	10	20	2	1	rs10416704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11516007T>G	ENST00000380456.3	-	8	1155	c.1092A>C	c.(1090-1092)gcA>gcC	p.A364A	RGL3_ENST00000393423.3_Silent_p.A364A	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	364	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACCGGCTCACTGCCCCCCAGC	0.662													t|||	1197	0.239018	0.5219	0.1023	5008	,	,		11868	0.251		0.0795	False		,,,				2504	0.1053				p.A364A	GBM(174;751 2067 17998 27979 33959)	Atlas-SNP	.											.	RGL3	100	.	0			c.A1092C						PASS	.	T	,	1990,2416	507.9+/-366.8	447,1096,660	23	27	25		1092,1092	-10.3	0.1	19	dbSNP_119	25	677,7923	159.8+/-213.0	30,617,3653	no	coding-synonymous,coding-synonymous	RGL3	NM_001035223.2,NM_001161616.1	,	477,1713,4313	GG,GT,TT		7.8721,45.1657,20.5059	,	364/711,364/717	11516007	2667,10339	2203	4300	6503	SO:0001819	synonymous_variant	57139	exon8			GCTCACTGCCCCC	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1092A>C	19.37:g.11516007T>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_001035223	B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	CCDS32910.1																																																																																			T|0.794;G|0.206	0.206	strong		0.662	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		G	11516007	T	G	11516007	2	3	22	1	0	0	0	0	0	0	0	1	13278	1567	55	5		5	RGL3	19	11516007	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26958	11516007	47612976	9532	14640										
CCDC151	115948	hgsc.bcm.edu	37	chr19	11537006	11537006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagtttcttctcctcggcGcgcttcttgcactcacttat	6	15	4	0	rs61739937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11537006G>A	ENST00000356392.4	-	7	1008	c.921C>T	c.(919-921)cgC>cgT	p.R307R	CCDC151_ENST00000545100.1_Silent_p.R253R|CCDC151_ENST00000591179.1_Silent_p.R247R|CCDC151_ENST00000586836.1_Silent_p.R116R	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	307										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCCTCGGCGCGCTTCTTGC	0.627													G|||	129	0.0257588	0.09	0.0072	5008	,	,		14915	0.004		0.001	False		,,,				2504	0.0				p.R307R		Atlas-SNP	.											.	CCDC151	44	.	0			c.C921T						PASS	.	G		295,3731		14,267,1732	41	43	42		921	-8.9	0.1	19	dbSNP_129	42	2,8354		0,2,4176	no	coding-synonymous	CCDC151	NM_145045.4		14,269,5908	AA,AG,GG		0.0239,7.3274,2.3986		307/596	11537006	297,12085	2013	4178	6191	SO:0001819	synonymous_variant	115948	exon7			CTCGGCGCGCTTC		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.921C>T	19.37:g.11537006G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	43	19	0.44186	NM_145045	B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	CCDS42501.1																																																																																			G|0.986;A|0.014	0.014	strong		0.627	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		A	11537006	G	A	11537006	2	1	22	1	0	0	0	0	0	0	0	1	2786	1074	38	1		1	CCDC151	19	11537006	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20999	11537006	47591977	9533	14641										
ZNF653	115950	hgsc.bcm.edu	37	chr19	11598483	11598483	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcaggcccattgcctgcTgggttggagcacagcggggt	16	11	1	0	rs311805	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11598483T>C	ENST00000293771.5	-	4	931	c.795A>G	c.(793-795)ccA>ccG	p.P265P	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	265					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(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CATTGCCTGCTGGGTTGGAGC	0.662													C|||	1540	0.307508	0.7632	0.2089	5008	,	,		14453	0.1181		0.1153	False		,,,				2504	0.1544				p.P265P	Pancreas(83;980 1446 4542 6441 43352)	Atlas-SNP	.											ZNF653,NS,carcinoma,0,2	ZNF653	48	2	0			c.A795G						PASS	.	C		2938,1468	448.3+/-348.6	988,962,253	43	46	45		795	-9	0	19	dbSNP_79	45	847,7751	757.7+/-407.5	45,757,3497	no	coding-synonymous	ZNF653	NM_138783.3		1033,1719,3750	CC,CT,TT		9.8511,33.3182,29.1064		265/616	11598483	3785,9219	2203	4299	6502	SO:0001819	synonymous_variant	115950	exon4			GCCTGCTGGGTTG	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.795A>G	19.37:g.11598483T>C		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	211	208	0.985782	NM_138783	Q96AS7	Silent	SNP	ENST00000293771.5	37	CCDS12261.1																																																																																			T|0.731;C|0.269	0.269	strong		0.662	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		C	11598483	T	C	11598483	2	2	22	1	0	0	0	0	0	0	0	1	18063	1567	55	3		3	ZNF653	19	11598483	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	61477	11598483	47530500	9534	14642										
ECSIT	51295	hgsc.bcm.edu	37	chr19	11618846	11618846	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatctgctgcacctgttgaGtctttgggcaaaggaacctg	13	9	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11618846G>C	ENST00000270517.7	-	5	891	c.756C>G	c.(754-756)gaC>gaG	p.D252E	ECSIT_ENST00000591104.1_Missense_Mutation_p.D252E|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Missense_Mutation_p.D136E|ECSIT_ENST00000588998.1_Missense_Mutation_p.D38E|ECSIT_ENST00000417981.2_Missense_Mutation_p.D38E|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Missense_Mutation_p.D252E|ZNF653_ENST00000593191.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	252					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CACCTGTTGAGTCTTTGGGCA	0.552																																					p.D252E		Atlas-SNP	.											.	ECSIT	32	.	0			c.C756G						PASS	.						104	112	109					19																	11618846		2203	4300	6503	SO:0001583	missense	51295	exon5			TGTTGAGTCTTTG	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.756C>G	19.37:g.11618846G>C	ENSP00000270517:p.Asp252Glu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	143	76	0.531469	NM_001142464	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360534	0.24598	.	.	ENSG00000130159	ENST00000270517;ENST00000417981;ENST00000252440	T;T;T	0.77098	-1.07;1.56;-1.07	3.81	0.321	0.15883	.	0.520943	0.20641	N	0.088408	T	0.68952	0.3057	M	0.65975	2.015	0.09310	N	1	B;B;B	0.15930	0.015;0.008;0.003	B;B;B	0.19946	0.027;0.009;0.015	T	0.54397	-0.8300	10	0.26408	T	0.33	-23.9198	5.4189	0.16390	0.117:0.4096:0.4734:0.0	.	38;252;252	E9PAN9;Q9BQ95-2;Q9BQ95	.;.;ECSIT_HUMAN	E	252;38;252	ENSP00000270517:D252E;ENSP00000412712:D38E;ENSP00000252440:D252E	ENSP00000252440:D252E	D	-	3	2	ECSIT	11479846	0.109000	0.22037	0.016000	0.15963	0.074000	0.17049	0.357000	0.20199	0.312000	0.23038	0.561000	0.74099	GAC	.	.	none		0.552	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		C	11618846	G	C	11618846	3	2	22	1	0	0	0	0	1	0	0	0	4900	1020	36	4	555	4	ECSIT	19	11618846	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20363	11618846	47510137	9535	14643										
ACP5	54	hgsc.bcm.edu	37	chr19	11685948	11685948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagccacccagtgagtcttcAgtcccatagtggaagcgcag	11	12	2	1	rs77911902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11685948A>G	ENST00000592828.1	-	7	1257	c.855T>C	c.(853-855)acT>acC	p.T285T	ACP5_ENST00000590420.1_Missense_Mutation_p.L43P|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Silent_p.T285T|ACP5_ENST00000412435.2_Silent_p.T285T|ACP5_ENST00000433365.2_Silent_p.T285T	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	285					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GTGAGTCTTCAGTCCCATAGT	0.572													A|||	148	0.0295527	0.1051	0.013	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0				p.T285T		Atlas-SNP	.											.	ACP5	30	.	0			c.T855C						PASS	.		,,,	478,3928	225.9+/-241.6	21,436,1746	100	86	91		855,855,855,855	-1.6	0	19	dbSNP_131	91	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACP5	NM_001111034.1,NM_001111035.1,NM_001111036.1,NM_001611.3	,,,	21,443,6039	GG,GA,AA		0.0814,10.8488,3.729	,,,	285/326,285/326,285/326,285/326	11685948	485,12521	2203	4300	6503	SO:0001819	synonymous_variant	54	exon6			GTCTTCAGTCCCA	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.855T>C	19.37:g.11685948A>G		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	158	80	0.506329	NM_001111034	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP	ENST00000592828.1	37	CCDS12265.1																																																																																			A|0.967;G|0.033	0.033	strong		0.572	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			G	11685948	A	G	11685948	2	3	22	1	0	0	0	0	0	0	0	1	164	175	7	3		3	ACP5	19	11685948	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	67102	11685948	47443035	9536	14644										
ZNF439	90594	hgsc.bcm.edu	37	chr19	11976987	11976987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccaatgctgtcactctcaCccatcctcctctacacatgt	3	19	3	0	rs10421552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11976987C>T	ENST00000304030.2	+	1	216	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	6			P -> S (in dbSNP:rs10421552).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GTCACTCTCACCCATCCTCCT	0.498													c|||	85	0.0169728	0.0628	0.0029	5008	,	,		16172	0.0		0.0	False		,,,				2504	0.0				p.P6S		Atlas-SNP	.											.	ZNF439	67	.	0			c.C16T						PASS	.	C	SER/PRO	294,4112	161.8+/-193.9	10,274,1919	116	115	115		16	-0.9	0	19	dbSNP_119	115	5,8595	3.7+/-12.6	0,5,4295	no	missense	ZNF439	NM_152262.2	74	10,279,6214	TT,TC,CC		0.0581,6.6727,2.2989	probably-damaging	6/500	11976987	299,12707	2203	4300	6503	SO:0001583	missense	90594	exon1			CTCTCACCCATCC	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.16C>T	19.37:g.11976987C>T	ENSP00000305077:p.Pro6Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	61	0.592233	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	49	0.022435897435897436	47	0.09552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	c	5.148	0.212963	0.09757	0.066727	5.81E-4	ENSG00000171291	ENST00000304030	T	0.06608	3.28	0.566	-0.848	0.10727	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.46261	-0.9204	8	0.35671	T	0.21	.	.	.	.	rs10421552;rs52808667;rs10421552	6	Q8NDP4	ZN439_HUMAN	S	6	ENSP00000305077:P6S	ENSP00000305077:P6S	P	+	1	0	ZNF439	11837987	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.512000	0.06313	-0.358000	0.08162	0.184000	0.17185	CCC	C|0.975;T|0.025	0.025	strong		0.498	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			T	11976987	C	T	11976987	3	4	22	1	0	0	0	0	1	0	0	0	17908	507	18	2	18	2	ZNF439	19	11976987	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	291039	11976987	47151996	9537	14645										
ZNF439	90594	hgsc.bcm.edu	37	chr19	11977147	11977147	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaacctgacctctatagGtaaggatgacaatattcctt	8	9	1	2	rs10420385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11977147G>A	ENST00000304030.2	+	1	375		c.e1+1		ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACCTCTATAGGTAAGGATGAC	0.438													g|||	85	0.0169728	0.0628	0.0029	5008	,	,		18513	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	ZNF439	67	.	0			c.175+1G>A						PASS	.	G		295,4111	161.4+/-193.6	10,275,1918	123	124	123			0.6	0.1	19	dbSNP_119	123	5,8595	3.7+/-12.6	0,5,4295	yes	splice-5	ZNF439	NM_152262.2		10,280,6213	AA,AG,GG		0.0581,6.6954,2.3066			11977147	300,12706	2203	4300	6503	SO:0001630	splice_region_variant	90594	exon1			CTATAGGTAAGGA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.175+1G>A	19.37:g.11977147G>A		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	244	121	0.495902	NM_152262	Q8IYZ7|Q96SU1	Splice_Site	SNP	ENST00000304030.2	37	CCDS12268.1	49	0.022435897435897436	47	0.09552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	-	5.467	0.271198	0.10349	0.066954	5.81E-4	ENSG00000171291	ENST00000442091;ENST00000304030	.	.	.	0.575	0.575	0.17374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs10420385	.	.	.	.	-1	.	.	.	+	.	.	ZNF439	11838147	0.998000	0.40836	0.097000	0.21041	0.111000	0.19643	3.646000	0.54396	0.577000	0.29470	0.194000	0.17425	.	G|0.968;A|0.032	0.032	strong		0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		Intron	A	11977147	G	A	11977147	5	1	22	1	0	0	0	0	0	0	1	0	17908	1275	44	2	178	2	ZNF439	19	11977147	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160	11977147	47151836	9538	14646										
ZNF439	90594	hgsc.bcm.edu	37	chr19	11978130	11978130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttgacaggagtgtcacAgaagagaaagtcaatgaaat	10	4	2	4	rs10417222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11978130A>G	ENST00000304030.2	+	3	446	c.246A>G	c.(244-246)acA>acG	p.T82T	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_5'UTR	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAGTGTCACAGAAGAGAAAG	0.333													a|||	80	0.0159744	0.0582	0.0043	5008	,	,		19117	0.0		0.0	False		,,,				2504	0.0				p.T82T		Atlas-SNP	.											.	ZNF439	67	.	0			c.A246G						PASS	.	A		277,4117	141.9+/-177.2	9,259,1929	69	73	72		246	-1.1	0	19	dbSNP_119	72	5,8591	3.7+/-12.6	0,5,4293	no	coding-synonymous	ZNF439	NM_152262.2		9,264,6222	GG,GA,AA		0.0582,6.3041,2.1709		82/500	11978130	282,12708	2197	4298	6495	SO:0001819	synonymous_variant	90594	exon3			TGTCACAGAAGAG	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.246A>G	19.37:g.11978130A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_152262	Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	CCDS12268.1																																																																																			A|0.978;G|0.022	0.022	strong		0.333	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			G	11978130	A	G	11978130	2	3	22	1	0	0	0	0	0	0	0	1	17908	175	7	3		3	ZNF439	19	11978130	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	983	11978130	47150853	9539	14647										
ZNF439	90594	hgsc.bcm.edu	37	chr19	11978898	11978898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaaagcattatcctctctTacaagttttcaaacacacat	5	10	2	0	rs113442649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11978898T>C	ENST00000304030.2	+	3	1214	c.1014T>C	c.(1012-1014)ctT>ctC	p.L338L	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.L202L	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TATCCTCTCTTACAAGTTTTC	0.388													t|||	36	0.0071885	0.0257	0.0029	5008	,	,		23879	0.0		0.0	False		,,,				2504	0.0				p.L338L		Atlas-SNP	.											.	ZNF439	67	.	0			c.T1014C						PASS	.	T		123,4283	90.6+/-129.3	0,123,2080	98	99	98		1014	-1.1	0	19	dbSNP_132	98	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	ZNF439	NM_152262.2		0,128,6375	CC,CT,TT		0.0581,2.7916,0.9842		338/500	11978898	128,12878	2203	4300	6503	SO:0001819	synonymous_variant	90594	exon3			CTCTCTTACAAGT	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1014T>C	19.37:g.11978898T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	108	71	0.657407	NM_152262	Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	CCDS12268.1																																																																																			T|0.989;C|0.011	0.011	strong		0.388	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			C	11978898	T	C	11978898	2	2	22	1	0	0	0	0	0	0	0	1	17908	1741	61	2		2	ZNF439	19	11978898	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	768	11978898	47150085	9540	14648										
ZNF69	7620	hgsc.bcm.edu	37	chr19	11998777	11998777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggtgtagagaggacccCgggacatctgaaagccagga	16	8	1	2	rs3810314	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:11998777C>T	ENST00000429654.2	+	1	179	c.39C>T	c.(37-39)ccC>ccT	p.P13P	ZNF69_ENST00000340180.5_Silent_p.P13P			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAGAGGACCCCGGGACATCTG	0.637													c|||	579	0.115615	0.3389	0.0432	5008	,	,		16314	0.0228		0.0239	False		,,,				2504	0.0552				p.P13P		Atlas-SNP	.											.	ZNF69	27	.	0			c.C39T						PASS	.	C		1247,3159	428.7+/-342.0	173,901,1129	77	66	70		39	-1.1	0	19	dbSNP_107	70	164,8436	76.9+/-139.5	1,162,4137	no	coding-synonymous	ZNF69	NM_021915.2		174,1063,5266	TT,TC,CC		1.907,28.3023,10.8488		13/150	11998777	1411,11595	2203	4300	6503	SO:0001819	synonymous_variant	7620	exon1			GGACCCCGGGACA	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"Zinc fingers, C2H2-type", "-"	13138	protein-coding gene	gene with protein product		194543	"zinc finger protein 69 (Cos5)"			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.39C>T	19.37:g.11998777C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	141	62	0.439716	NM_021915	Q86VA7	Silent	SNP	ENST00000429654.2	37																																																																																				C|0.897;T|0.103	0.103	strong		0.637	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		T	11998777	C	T	11998777	2	4	22	1	0	0	0	0	0	0	0	1	18092	639	23	1		1	ZNF69	19	11998777	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19879	11998777	47130206	9541	14649										
ZNF700	90592	hgsc.bcm.edu	37	chr19	12059467	12059467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttattttccattcaagcattCgaagacacatggtaatgcac	6	9	1	1	rs73509026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12059467C>G	ENST00000254321.5	+	4	771	c.628C>G	c.(628-630)Cga>Gga	p.R210G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.R192G|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAAGCATTCGAAGACACAT	0.383													c|||	318	0.0634984	0.1505	0.0288	5008	,	,		21685	0.0218		0.0378	False		,,,				2504	0.0399				p.R213G		Atlas-SNP	.											ZNF700,NS,carcinoma,-1,1	ZNF700	81	1	0			c.C637G						PASS	.	C	GLY/ARG	584,3822	254.0+/-259.7	38,508,1657	89	93	92		628	0.6	0	19	dbSNP_130	92	256,8344	99.7+/-161.2	2,252,4046	yes	missense	ZNF700	NM_144566.1	125	40,760,5703	GG,GC,CC		2.9767,13.2547,6.4586	probably-damaging	210/743	12059467	840,12166	2203	4300	6503	SO:0001583	missense	90592	exon4			AGCATTCGAAGAC	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.628C>G	19.37:g.12059467C>G	ENSP00000254321:p.Arg210Gly	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	116	65	0.560345	NM_001271848	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	123	0.05631868131868132	67	0.13617886178861788	13	0.03591160220994475	16	0.027972027972027972	27	0.03562005277044855	c	9.486	1.099434	0.20552	0.132547	0.029767	ENSG00000196757	ENST00000254321	T	0.07114	3.22	0.554	0.554	0.17241	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.63169	1.94	0.09310	N	1	P	0.51057	0.941	P	0.50708	0.648	T	0.31110	-0.9955	9	0.21540	T	0.41	.	3.5609	0.07882	0.4412:0.5587:1.0E-4:0.0	.	210	Q9H0M5	ZN700_HUMAN	G	210	ENSP00000254321:R210G	ENSP00000254321:R210G	R	+	1	2	ZNF700	11920467	0.000000	0.05858	0.032000	0.17829	0.334000	0.28698	-1.823000	0.01710	0.535000	0.28714	0.305000	0.20034	CGA	C|0.940;G|0.060	0.060	strong		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		G	12059467	C	G	12059467	3	3	22	1	0	0	0	0	1	0	0	0	18101	876	31	4	642	4	ZNF700	19	12059467	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60690	12059467	47069516	9542	14650										
ZNF763	284390	hgsc.bcm.edu	37	chr19	12089704	12089704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaatgtaataaagcattccGtagttacagatcctatctta	5	8	1	1	rs79043756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12089704G>A	ENST00000358987.3	+	4	1092	c.965G>A	c.(964-966)cGt>cAt	p.R322H	ZNF763_ENST00000343949.5_Missense_Mutation_p.R325H|ZNF763_ENST00000538752.1_Missense_Mutation_p.R342H|ZNF763_ENST00000590798.1_Missense_Mutation_p.R342H|ZNF763_ENST00000545530.1_Missense_Mutation_p.R200H			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAAGCATTCCGTAGTTACAGA	0.408													g|||	82	0.0163738	0.0582	0.0043	5008	,	,		21314	0.0		0.001	False		,,,				2504	0.001				p.R325H		Atlas-SNP	.											.	ZNF763	31	.	0			c.G974A						PASS	.	G	HIS/ARG	264,4122	737.1+/-410.8	5,254,1934	72	75	74		974	-2.6	0	19	dbSNP_131	74	7,8589	799.1+/-407.4	0,7,4291	no	missense	ZNF763	NM_001012753.1	29	5,261,6225	AA,AG,GG		0.0814,6.0192,2.0875		325/398	12089704	271,12711	2193	4298	6491	SO:0001583	missense	284390	exon4			CATTCCGTAGTTA	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.965G>A	19.37:g.12089704G>A	ENSP00000402017:p.Arg322His	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	118	63	0.533898	NM_001012753	B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		45	0.020604395604395604	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	0	0.0	a	0.005	-2.195045	0.00299	0.060192	8.14E-4	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	1.31	-2.62	0.06152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00328	0.0010	N	0.25426	0.745	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.33701	-0.9858	9	0.13108	T	0.6	.	4.5111	0.11912	0.2955:0.3236:0.3809:0.0	.	342;322;325	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	H	342;325;200;322	ENSP00000438117:R342H;ENSP00000369774:R325H;ENSP00000446166:R200H;ENSP00000402017:R322H	ENSP00000369774:R325H	R	+	2	0	ZNF763	11950704	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-7.131000	0.00043	-2.876000	0.00321	-2.047000	0.00414	CGT	G|0.979;A|0.021	0.021	strong		0.408	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		A	12089704	G	A	12089704	3	1	22	1	0	0	0	0	1	0	0	0	18134	1145	40	1	988	1	ZNF763	19	12089704	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30237	12089704	47039279	9543	14651										
ZNF763	284390	hgsc.bcm.edu	37	chr19	12089903	12089903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaacacacctaagaatgcGctctggagaaagaccttata	7	10	2	3	rs112017572	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12089903G>A	ENST00000358987.3	+	4	1291	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	ZNF763_ENST00000343949.5_Silent_p.A391A|ZNF763_ENST00000538752.1_Silent_p.A408A|ZNF763_ENST00000590798.1_Silent_p.A408A|ZNF763_ENST00000545530.1_Silent_p.A266A			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A390A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTAAGAATGCGCTCTGGAGAA	0.393													a|||	398	0.0794728	0.2103	0.0317	5008	,	,		22553	0.0218		0.0378	False		,,,				2504	0.0389				p.A391A		Atlas-SNP	.											ZNF763,caecum,carcinoma,+2,3	ZNF763	31	3	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G1173A						PASS	.	A		819,3565	683.6+/-404.3	81,657,1454	59	65	63		1173	1.4	0	19	dbSNP_132	63	256,8336	789.1+/-407.6	3,250,4043	no	coding-synonymous	ZNF763	NM_001012753.1		84,907,5497	AA,AG,GG		2.9795,18.6816,8.2845		391/398	12089903	1075,11901	2192	4296	6488	SO:0001819	synonymous_variant	284390	exon4			GAATGCGCTCTGG	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1164G>A	19.37:g.12089903G>A		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	40	26	0.65	NM_001012753	B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37																																																																																				G|0.941;A|0.059	0.059	strong		0.393	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		A	12089903	G	A	12089903	2	1	22	1	0	0	0	0	0	0	0	1	18134	1074	38	1		1	ZNF763	19	12089903	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	199	12089903	47039080	9544	14652										
ZNF433	163059	hgsc.bcm.edu	37	chr19	12127370	12127370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccatacacactgctttcGcatgattttactccagtagt	5	12	1	1	rs79787738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12127370G>A	ENST00000344980.6	-	4	482	c.312C>T	c.(310-312)tgC>tgT	p.C104C	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Silent_p.C69C|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CACTGCTTTCGCATGATTTTA	0.408													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		19210	0.0		0.0	False		,,,				2504	0.0				p.C104C		Atlas-SNP	.											.	ZNF433	49	.	0			c.C312T						PASS	.	G		67,4277		0,67,2105	93	93	93		312	-2.4	0	19	dbSNP_132	93	2,8572		0,2,4285	no	coding-synonymous	ZNF433	NM_001080411.1		0,69,6390	AA,AG,GG		0.0233,1.5424,0.5341		104/674	12127370	69,12849	2172	4287	6459	SO:0001819	synonymous_variant	163059	exon4			GCTTTCGCATGAT	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.312C>T	19.37:g.12127370G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	161	72	0.447205	NM_001080411	Q86VX3	Silent	SNP	ENST00000344980.6	37	CCDS45983.1																																																																																			G|0.994;A|0.006	0.006	strong		0.408	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		A	12127370	G	A	12127370	2	1	22	1	0	0	0	0	0	0	0	1	17904	1079	38	1		1	ZNF433	19	12127370	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37467	12127370	47001613	9545	14653										
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186148	12186148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcttctgggagagagagtTgatgaaaatacagaagaaaa	12	3	2	6	rs10424893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12186148T>C	ENST00000439326.3	+	4	388	c.213T>C	c.(211-213)gtT>gtC	p.V71V	ZNF844_ENST00000441304.2_Missense_Mutation_p.L51S	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	71	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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAGAGTTGATGAAAATA	0.333													.|||	1421	0.283746	0.7035	0.1455	5008	,	,		15619	0.0863		0.161	False		,,,				2504	0.1442				p.V71V		Atlas-SNP	.											ZNF844,NS,NS,+2,1	ZNF844	69	1	0			c.T213C						scavenged	.	C		839,545		256,327,109	64	61	62		213	-0.9	0	19	dbSNP_119	62	416,2766		25,366,1200	no	coding-synonymous	ZNF844	NM_001136501.1		281,693,1309	CC,CT,TT		13.0735,39.3786,27.4858		71/667	12186148	1255,3311	692	1591	2283	SO:0001819	synonymous_variant	284391	exon4			GAGAGTTGATGAA	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.213T>C	19.37:g.12186148T>C		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	29	15	0.517241	NM_001136501	Q5JPI8	Silent	SNP	ENST00000439326.3	37	CCDS45985.1	553	0.2532051282051282	319	0.6483739837398373	53	0.1464088397790055	54	0.0944055944055944	127	0.16754617414248021	t	0.777	-0.763841	0.02996	0.606214	0.130735	ENSG00000223547	ENST00000441304	T	0.01821	4.62	1.56	-0.936	0.10419	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.04551	-1.0943	5	0.45353	T	0.12	.	3.1725	0.06558	0.3397:0.4089:0.0:0.2514	rs10424893;rs10424893	.	.	.	S	51	ENSP00000402097:L51S	ENSP00000402097:L51S	L	+	2	0	ZNF844	12047148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.757000	0.04772	-0.637000	0.05516	-1.222000	0.01597	TTG	T|0.725;C|0.275	0.275	strong		0.333	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			C	12186148	T	C	12186148	2	2	22	1	0	0	0	0	0	0	0	1	18187	1799	63	2		2	ZNF844	19	12186148	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58778	12186148	46942835	9546	14654			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186372	12186372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatataagtgtcaacaacGtaagaaagccttcagatgtc	8	9	2	2	rs10422576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12186372G>A	ENST00000439326.3	+	4	612	c.437G>A	c.(436-438)cGt>cAt	p.R146H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	146			R -> H (in dbSNP:rs10422576).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTCAACAACGTAAGAAAGCC	0.423													.|||	104	0.0207668	0.0772	0.0029	5008	,	,		18101	0.0		0.0	False		,,,				2504	0.0				p.R146H		Atlas-SNP	.											.	ZNF844	69	.	0			c.G437A						PASS	.	A	HIS/ARG	76,1308		2,72,618	88	76	79		437	-2.1	0	19	dbSNP_119	79	0,3182		0,0,1591	yes	missense	ZNF844	NM_001136501.1	29	2,72,2209	AA,AG,GG		0.0,5.4913,1.6645	probably-damaging	146/667	12186372	76,4490	692	1591	2283	SO:0001583	missense	284391	exon4			AACAACGTAAGAA	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.437G>A	19.37:g.12186372G>A	ENSP00000392024:p.Arg146His	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	110	57	0.518182	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	A	6.262	0.416387	0.11870	0.054913	0.0	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.27720	1.65	2.12	-2.12	0.07165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	N	0.02916	-0.46	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.21211	-1.0252	9	0.72032	D	0.01	.	6.0456	0.19758	0.4102:0.0:0.5898:0.0	rs56481038	146	Q08AG5	ZN844_HUMAN	H	146	ENSP00000392024:R146H	ENSP00000392024:R146H	R	+	2	0	ZNF844	12047372	0.809000	0.29036	0.000000	0.03702	0.005000	0.04900	1.933000	0.40153	-0.554000	0.06150	-1.906000	0.00525	CGT	.	.	weak		0.423	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			A	12186372	G	A	12186372	3	1	22	1	0	0	0	0	1	0	0	0	18187	1145	40	1	451	1	ZNF844	19	12186372	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	224	12186372	46942611	9547	14655			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactggagagaaaccatatAaatgtaaacaatgtggtaaa	8	5	0	1	rs7259684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12186611A>G	ENST00000439326.3	+	4	851	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	226			K -> E (in dbSNP:rs7259684).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373													.|||	825	0.164736	0.413	0.0663	5008	,	,		21878	0.0665		0.0825	False		,,,				2504	0.0849				p.K226E		Atlas-SNP	.											.	ZNF844	69	.	0			c.A676G						PASS	.	G	GLU/LYS	492,892		95,302,295	40	37	38		676	-1.7	0	19	dbSNP_116	38	236,2946		6,224,1361	no	missense	ZNF844	NM_001136501.1	56	101,526,1656	GG,GA,AA		7.4167,35.5491,15.9439	benign	226/667	12186611	728,3838	692	1591	2283	SO:0001583	missense	284391	exon4			CCATATAAATGTA	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.676A>G	19.37:g.12186611A>G	ENSP00000392024:p.Lys226Glu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	75	37	0.493333	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	323	0.1478937728937729	190	0.3861788617886179	27	0.07458563535911603	40	0.06993006993006994	66	0.0870712401055409	a	0.261	-0.999373	0.02128	0.355491	0.074167	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.16196	3.1;2.36	2.31	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44452	-0.9327	8	0.02654	T	1	.	8.289	0.31946	0.5789:0.0:0.4211:0.0	rs7259684;rs7259684	226	Q08AG5	ZN844_HUMAN	E	226;226;201;69	ENSP00000392024:K226E;ENSP00000448588:K69E	ENSP00000392024:K226E	K	+	1	0	ZNF844	12047611	0.000000	0.05858	0.002000	0.10522	0.421000	0.31385	-5.762000	0.00100	-1.016000	0.03371	-0.971000	0.02607	AAA	A|0.854;G|0.146	0.146	strong		0.373	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			G	12186611	A	G	12186611	3	3	22	1	0	0	0	0	1	0	0	0	18187	363	13	2	690	2	ZNF844	19	12186611	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	239	12186611	46942372	9548	14656			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186761	12186761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaacatagaagaactcacActggagagaagccatatgaa	9	7	1	5	rs7259845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12186761A>G	ENST00000439326.3	+	4	1001	c.826A>G	c.(826-828)Act>Gct	p.T276A	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	276			T -> A (in dbSNP:rs7259845).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAGAACTCACACTGGAGAGAA	0.408													.|||	1455	0.290535	0.73	0.1455	5008	,	,		20627	0.0853		0.161	False		,,,				2504	0.1442				p.T276A		Atlas-SNP	.											.	ZNF844	69	.	0			c.A826G						PASS	.	A	ALA/THR	887,497		287,313,92	42	40	40		826	1.5	0	19	dbSNP_116	40	416,2766		25,366,1200	yes	missense	ZNF844	NM_001136501.1	58	312,679,1292	GG,GA,AA		13.0735,35.9104,28.537	benign	276/667	12186761	1303,3263	692	1591	2283	SO:0001583	missense	284391	exon4			ACTCACACTGGAG	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.826A>G	19.37:g.12186761A>G	ENSP00000392024:p.Thr276Ala	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	46	0.638889	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	573	0.2623626373626374	339	0.6890243902439024	53	0.1464088397790055	53	0.09265734265734266	128	0.16886543535620052	A	14.28	2.487242	0.44249	0.640896	0.130735	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.26518	1.73	2.5	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.62266	1.93	0.09310	P	0.999999999404092	B	0.32302	0.363	B	0.30316	0.114	T	0.25779	-1.0122	8	0.59425	D	0.04	.	6.394	0.21603	0.8647:0.0:0.1353:0.0	rs7259845;rs52791364;rs59360268;rs7259845	276	Q08AG5	ZN844_HUMAN	A	276;276;251	ENSP00000392024:T276A	ENSP00000392024:T276A	T	+	1	0	ZNF844	12047761	0.076000	0.21285	0.014000	0.15608	0.565000	0.35776	1.389000	0.34453	0.202000	0.20498	0.172000	0.16884	ACT	A|0.715;G|0.285	0.285	strong		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			G	12186761	A	G	12186761	3	3	22	1	0	0	0	0	1	0	0	0	18187	159	6	2	840	2	ZNF844	19	12186761	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150	12186761	46942222	9549	14657			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186857	12186857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaactcacagtgaggagaagGcttatgaatgtaccaaatgt	11	6	1	3	rs6511763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12186857G>C	ENST00000439326.3	+	4	1097	c.922G>C	c.(922-924)Gct>Cct	p.A308P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	308			A -> P (in dbSNP:rs6511763).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGAGGAGAAGGCTTATGAATG	0.413													.|||	1455	0.290535	0.73	0.1455	5008	,	,		21988	0.0853		0.161	False		,,,				2504	0.1442				p.A308P		Atlas-SNP	.											.	ZNF844	69	.	0			c.G922C						PASS	.	C	PRO/ALA	887,497		287,313,92	67	64	65		922	1.4	0	19	dbSNP_116	65	416,2766		25,366,1200	yes	missense	ZNF844	NM_001136501.1	27	312,679,1292	CC,CG,GG		13.0735,35.9104,28.537	benign	308/667	12186857	1303,3263	692	1591	2283	SO:0001583	missense	284391	exon4			GAGAAGGCTTATG	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.922G>C	19.37:g.12186857G>C	ENSP00000392024:p.Ala308Pro	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	572	0.2619047619047619	339	0.6890243902439024	53	0.1464088397790055	53	0.09265734265734266	127	0.16754617414248021	C	1.412	-0.575281	0.03882	0.640896	0.130735	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.10192	2.9	2.5	1.42	0.22433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00047	-2.43	0.26978	P	0.9654259	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	8	0.02654	T	1	.	5.9876	0.19442	0.0:0.6833:0.1951:0.1217	rs6511763;rs52826403;rs60463492;rs6511763	308	Q08AG5	ZN844_HUMAN	P	308;308;283	ENSP00000392024:A308P	ENSP00000392024:A308P	A	+	1	0	ZNF844	12047857	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	0.066000	0.14489	-0.014000	0.14175	-0.980000	0.02579	GCT	G|0.739;C|0.261	0.261	strong		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			C	12186857	G	C	12186857	3	2	22	1	0	0	0	0	1	0	0	0	18187	1203	42	4	936	4	ZNF844	19	12186857	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	96	12186857	46942126	9550	14658			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF844	284391	hgsc.bcm.edu	37	chr19	12187210	12187210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctatgaatgtaagcagtgtAgtaaagccttcatttcttcc	7	9	2	1	rs6511764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													.|||	1455	0.290535	0.73	0.1455	5008	,	,		23733	0.0853		0.161	False		,,,				2504	0.1442				p.V425V		Atlas-SNP	.											ZNF844,right_upper_lobe,carcinoma,0,2	ZNF844	69	2	0			c.A1275G						scavenged	.	G		883,501		287,309,96	54	57	56		1275	0.5	0	19	dbSNP_116	56	413,2769		25,363,1203	no	coding-synonymous	ZNF844	NM_001136501.1		312,672,1299	GG,GA,AA		12.9793,36.1994,28.3837		425/667	12187210	1296,3270	692	1591	2283	SO:0001819	synonymous_variant	284391	exon4			CAGTGTAGTAAAG	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1275A>G	19.37:g.12187210A>G		Somatic	54	1	0.0185185		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001136501	Q5JPI8	Silent	SNP	ENST00000439326.3	37	CCDS45985.1																																																																																			A|0.772;G|0.228	0.228	strong		0.428	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			G	12187210	A	G	12187210	2	3	22	1	0	0	0	0	0	0	0	1	18187	407	15	3		3	ZNF844	19	12187210	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	353	12187210	46941773	9551	14659			33	62	7673203	6	6	1063	N	T_G_A	4.723379e-05
ZNF20	7568	hgsc.bcm.edu	37	chr19	12244624	12244624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacttgtgtccagtgtcaGctctgatatgcgtattaaga	10	7	2	3	rs61743205	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12244624G>A	ENST00000334213.5	-	4	601	c.377C>T	c.(376-378)gCt>gTt	p.A126V	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TCCAGTGTCAGCTCTGATATG	0.408													G|||	103	0.0205671	0.0764	0.0029	5008	,	,		20665	0.0		0.0	False		,,,				2504	0.0				p.A126V		Atlas-SNP	.											.	ZNF20	86	.	0			c.C377T						PASS	.	G	VAL/ALA,VAL/ALA	196,4082		3,190,1946	248	252	251		368,377	-0.3	0	19	dbSNP_129	251	1,8541		0,1,4270	yes	missense,missense	ZNF20	NM_001203250.1,NM_021143.3	64,64	3,191,6216	AA,AG,GG		0.0117,4.5816,1.5367	possibly-damaging,possibly-damaging	123/530,126/533	12244624	197,12623	2139	4271	6410	SO:0001583	missense	7568	exon4			GTGTCAGCTCTGA	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.377C>T	19.37:g.12244624G>A	ENSP00000335437:p.Ala126Val	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	182	88	0.483516	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	39	0.017857142857142856	38	0.07723577235772358	1	0.0027624309392265192	0	0.0	0	0.0	G	4.410	0.075745	0.08485	0.045816	1.17E-4	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.13420	3.41;2.59	0.94	-0.349	0.12609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.00241	0.0007	N	0.04148	-0.265	0.09310	N	1	P	0.44627	0.839	B	0.33454	0.164	T	0.38607	-0.9653	9	0.21540	T	0.41	.	4.7244	0.12935	0.0:0.4015:0.5985:0.0	.	126	P17024	ZNF20_HUMAN	V	126;126;123	ENSP00000335437:A126V;ENSP00000390115:A123V	ENSP00000292241:A126V	A	-	2	0	ZNF20	12105624	0.000000	0.05858	0.029000	0.17559	0.267000	0.26476	-1.626000	0.02035	-0.066000	0.12998	0.313000	0.20887	GCT	G|0.981;A|0.019	0.019	strong		0.408	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		A	12244624	G	A	12244624	3	1	22	1	0	0	0	0	1	0	0	0	17758	971	34	2	1225	2	ZNF20	19	12244624	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57414	12244624	46884359	9552	14660										
ZNF442	79973	hgsc.bcm.edu	37	chr19	12462873	12462873	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcttcaatgtttgtgtcttCccatttcattcctaaaaggt	5	9	4	0	rs73507958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12462873C>A	ENST00000242804.4	-	5	799	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	ZNF442_ENST00000438182.1_Nonsense_Mutation_p.E4*	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTGTGTCTTCCCATTTCATT	0.353													C|||	39	0.00778754	0.0287	0.0014	5008	,	,		16758	0.0		0.0	False		,,,				2504	0.0				p.E73X		Atlas-SNP	.											.	ZNF442	102	.	0			c.G217T						PASS	.	C	stop/GLU	83,4323	71.4+/-109.4	1,81,2121	123	111	115		217	-1	0.1	19	dbSNP_130	115	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ZNF442	NM_030824.2		1,82,6420	AA,AC,CC		0.0116,1.8838,0.6459		73/628	12462873	84,12922	2203	4300	6503	SO:0001587	stop_gained	79973	exon5			TGTCTTCCCATTT	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.217G>T	19.37:g.12462873C>A	ENSP00000242804:p.Glu73*	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	118	61	0.516949	NM_030824	B4DJ48	Nonsense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	13.54	2.268178	0.40095	0.018838	1.16E-4	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	.	.	.	1.51	-0.994	0.10225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	3.7481	0.08556	0.0:0.4674:0.0:0.5326	.	.	.	.	X	73;4;4	.	ENSP00000242804:E73X	E	-	1	0	ZNF442	12323873	0.001000	0.12720	0.062000	0.19696	0.439000	0.31926	-0.419000	0.07071	-0.071000	0.12886	0.313000	0.20887	GAA	C|0.993;A|0.007	0.007	strong		0.353	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		A	12462873	C	A	12462873	4	1	22	1	0	0	0	0	0	1	0	0	17912	864	30	4	1674	4	ZNF442	19	12462873	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	218249	12462873	46666110	9553	14661										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12502155	12502155	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagttctttcatgactttTcagtgaactaggacaatcaa					rs201335235		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12502155T>G	ENST00000430385.3	-	4	1257	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.K321Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCATGACTTTTCAGTGAACTA	0.413																																					p.K353Q		Atlas-SNP	.											.	ZNF799	111	.	0			c.A1057C						PASS	.						160	156	157					19																	12502155		2203	4300	6503	SO:0001583	missense	90576	exon4			GACTTTTCAGTGA	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1057A>C	19.37:g.12502155T>G	ENSP00000411084:p.Lys353Gln	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	111	8	0.0720721	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323810	0.01309	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.04406	3.63;3.63	1.31	-1.61	0.08399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49041	-0.8980	9	0.14252	T	0.57	.	6.8386	0.23951	0.0:0.0:0.2963:0.7037	.	353	Q96GE5	ZN799_HUMAN	Q	321;353	ENSP00000415278:K321Q;ENSP00000411084:K353Q	ENSP00000415278:K321Q	K	-	1	0	ZNF799	12363155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.687000	0.05156	-0.936000	0.03723	-1.919000	0.00516	AAA	.	.	weak		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12502155	T	G	12502155	3	3	22	1	0	0	0	0	1	0	0	0	18163	1792	62	5	878	5	ZNF799	19	12502155	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39282	12502155	46626828	9554	14662	301	2								
ZNF799	90576	hgsc.bcm.edu	37	chr19	12502161	12502161	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttcatgacttttcagtgAactaggacaatcaaagcctt					rs541416821		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12502161A>T	ENST00000430385.3	-	4	1251	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S319T	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S351T(1)|p.S138T(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTTTTCAGTGAACTAGGACAA	0.413																																					p.S351T		Atlas-SNP	.											ZNF799_ENST00000430385,NS,carcinoma,0,2	ZNF799	111	2	2	Substitution - Missense(2)	kidney(2)	c.T1051A						scavenged	.						161	157	158					19																	12502161		2203	4300	6503	SO:0001583	missense	90576	exon4			TCAGTGAACTAGG	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1051T>A	19.37:g.12502161A>T	ENSP00000411084:p.Ser351Thr	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	117	5	0.042735	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574140	0.28092	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07567	3.18;3.18	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.16478	0.41	0.09310	N	1	D	0.60575	0.988	P	0.60173	0.87	T	0.34378	-0.9831	9	0.30078	T	0.28	.	6.6913	0.23174	1.0:0.0:0.0:0.0	.	351	Q96GE5	ZN799_HUMAN	T	319;351	ENSP00000415278:S319T;ENSP00000411084:S351T	ENSP00000415278:S319T	S	-	1	0	ZNF799	12363161	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.679000	0.25291	0.846000	0.35142	0.352000	0.21897	TCA	.	.	none		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12502161	A	T	12502161	3	4	22	1	0	0	0	0	1	0	0	0	18163	246	9	5	884	5	ZNF799	19	12502161	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	12502161	46626822	9555	14663	301	2								
ZNF443	10224	hgsc.bcm.edu	37	chr19	12541035	12541035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctttcccacattccttacAttcatatgggttctctccag	5	13	2	0	rs145053669	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12541035A>G	ENST00000301547.5	-	4	2148	c.1951T>C	c.(1951-1953)Tgt>Cgt	p.C651R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	651					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CATTCCTTACATTCATATGGG	0.388													.|||	24	0.00479233	0.0182	0.0	5008	,	,		20850	0.0		0.0	False		,,,				2504	0.0				p.C651R		Atlas-SNP	.											.	ZNF443	63	.	0			c.T1951C						PASS	.	A	ARG/CYS	85,4321	71.4+/-109.4	0,85,2118	128	131	130		1951	1	0	19	dbSNP_134	130	5,8595	4.3+/-15.6	0,5,4295	no	missense	ZNF443	NM_005815.4	180	0,90,6413	GG,GA,AA		0.0581,1.9292,0.692	probably-damaging	651/672	12541035	90,12916	2203	4300	6503	SO:0001583	missense	10224	exon4			CCTTACATTCATA	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1951T>C	19.37:g.12541035A>G	ENSP00000301547:p.Cys651Arg	Somatic	395	0	0		WXS	Illumina HiSeq	Phase_I	374	205	0.548128	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	A	10.64	1.406169	0.25378	0.019292	5.81E-4	ENSG00000180855	ENST00000301547;ENST00000411622	D	0.85258	-1.96	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85691	0.5755	H	0.95982	3.75	0.26843	N	0.96833	D	0.89917	1.0	D	0.80764	0.994	T	0.78565	-0.2155	9	0.87932	D	0	.	7.541	0.27737	1.0:0.0:0.0:0.0	.	651	Q9Y2A4	ZN443_HUMAN	R	651;623	ENSP00000301547:C651R	ENSP00000301547:C651R	C	-	1	0	ZNF443	12402035	0.269000	0.24143	0.006000	0.13384	0.010000	0.07245	2.194000	0.42668	0.711000	0.32018	0.333000	0.21579	TGT	A|0.993;G|0.007	0.007	strong		0.388	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		G	12541035	A	G	12541035	3	3	22	1	0	0	0	0	1	0	0	0	17913	217	8	2	68	2	ZNF443	19	12541035	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38874	12541035	46587948	9556	14664										
MAN2B1	4125	hgsc.bcm.edu	37	chr19	12760200	12760200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatagtagtttcctgccacGggctccgtctggttcagttt	12	10	2	0	rs35880640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12760200G>A	ENST00000456935.2	-	19	2350	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P	MAN2B1_ENST00000221363.4_Silent_p.P769P|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	770					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTGCCACGGGCTCCGTCT	0.552													G|||	127	0.0253594	0.0756	0.0159	5008	,	,		15027	0.0		0.0109	False		,,,				2504	0.0051				p.P770P		Atlas-SNP	.											MAN2B1,colon,carcinoma,-1,1	MAN2B1	91	1	0			c.C2310T						PASS	.	G	,	288,4118	157.4+/-190.3	11,266,1926	84	60	68		2310,2307	-9.3	0	19	dbSNP_126	68	93,8507	51.1+/-111.2	1,91,4208	no	coding-synonymous,coding-synonymous	MAN2B1	NM_000528.3,NM_001173498.1	,	12,357,6134	AA,AG,GG		1.0814,6.5365,2.9294	,	770/1012,769/1011	12760200	381,12625	2203	4300	6503	SO:0001819	synonymous_variant	4125	exon19			TGCCACGGGCTCC		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2310C>T	19.37:g.12760200G>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	242	130	0.53719	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1																																																																																			G|0.975;A|0.025	0.025	strong		0.552	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12760200	G	A	12760200	2	1	22	1	0	0	0	0	0	0	0	1	9216	1103	39	1		1	MAN2B1	19	12760200	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219165	12760200	46368783	9557	14665										
MAN2B1	4125	hgsc.bcm.edu	37	chr19	12766624	12766624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggtgctgaagcccagggCgggcagtgaggctgagaaca	17	8	0	3	rs377104016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12766624C>A	ENST00000456935.2	-	14	1754	c.1714G>T	c.(1714-1716)Gcc>Tcc	p.A572S	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A571S|MAN2B1_ENST00000495617.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	572					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.A572T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGCCCAGGGCGGGCAGTGAG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17585	0.0		0.0	False		,,,				2504	0.002				p.A572S		Atlas-SNP	.											MAN2B1,NS,carcinoma,0,1	MAN2B1	91	1	1	Substitution - Missense(1)	prostate(1)	c.G1714T						PASS	.	C	SER/ALA,SER/ALA	3,4403	8.1+/-20.4	0,3,2200	58	64	62		1714,1711	4	1	19		62	0,8600		0,0,4300	no	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	99,99	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	benign,benign	572/1012,571/1011	12766624	3,13003	2203	4300	6503	SO:0001583	missense	4125	exon14			CCAGGGCGGGCAG		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1714G>T	19.37:g.12766624C>A	ENSP00000395473:p.Ala572Ser	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	37	21	0.567568	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869012|3.869012	0.72065|0.72065	6.81E-4|6.81E-4	0.0|0.0	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.81163|.	-1.46;-1.46|.	5.16|5.16	4.03|4.03	0.46877|0.46877	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.000000|.	0.33712|.	N|.	0.004633|.	T|T	0.76593|0.76593	0.4009|0.4009	M|M	0.85041|0.85041	2.73|2.73	0.39975|0.39975	D|D	0.974849|0.974849	P;D|.	0.58970|.	0.928;0.984|.	P;P|.	0.59288|.	0.774;0.855|.	T|T	0.80151|0.80151	-0.1502|-0.1502	10|5	0.54805|.	T|.	0.06|.	-16.9432|-16.9432	12.4629|12.4629	0.55741|0.55741	0.0:0.8153:0.1847:0.0|0.0:0.8153:0.1847:0.0	.|.	571;572|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	S|L	572;511;571|107	ENSP00000395473:A572S;ENSP00000221363:A571S|.	ENSP00000221363:A571S|.	A|R	-|-	1|2	0|0	MAN2B1|MAN2B1	12627624|12627624	0.995000|0.995000	0.38212|0.38212	0.986000|0.986000	0.45419|0.45419	0.762000|0.762000	0.43233|0.43233	2.575000|2.575000	0.46025|0.46025	2.389000|2.389000	0.81357|0.81357	0.313000|0.313000	0.20887|0.20887	GCC|CGC	.	.	weak		0.612	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12766624	C	A	12766624	3	1	22	1	0	0	0	0	1	0	0	0	9216	768	27	4	1365	4	MAN2B1	19	12766624	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6424	12766624	46362359	9558	14666										
MAN2B1	4125	hgsc.bcm.edu	37	chr19	12772165	12772165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagcccatggtcatcacaGtgtggttggtgcggtaatac	13	10	2	0	rs1054487	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12772165G>A	ENST00000456935.2	-	7	975	c.935C>T	c.(934-936)aCt>aTt	p.T312I	MAN2B1_ENST00000221363.4_Missense_Mutation_p.T312I|MAN2B1_ENST00000495617.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	312			T -> I (in dbSNP:rs1054487). {ECO:0000269|PubMed:22161967, ECO:0000269|PubMed:9915946}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCATCACAGTGTGGTTGGT	0.527													A|||	1642	0.327875	0.584	0.281	5008	,	,		20649	0.0615		0.4036	False		,,,				2504	0.2117				p.T312I		Atlas-SNP	.											MAN2B1,NS,adenoma,0,1	MAN2B1	91	1	0			c.C935T						PASS	.	A	ILE/THR,ILE/THR	2366,2040	561.6+/-380.8	647,1072,484	210	173	186		935,935	-2.2	0	19	dbSNP_86	186	3533,5067	632.4+/-398.6	703,2127,1470	yes	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	89,89	1350,3199,1954	AA,AG,GG		41.0814,46.3005,45.356	benign,benign	312/1012,312/1011	12772165	5899,7107	2203	4300	6503	SO:0001583	missense	4125	exon7			ATCACAGTGTGGT		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.935C>T	19.37:g.12772165G>A	ENSP00000395473:p.Thr312Ile	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	155	67	0.432258	NM_001173498	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	705	0.3228021978021978	264	0.5365853658536586	114	0.3149171270718232	30	0.05244755244755245	297	0.391820580474934	A	0.054	-1.240886	0.01493	0.536995	0.410814	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.75704	-0.96;-0.96	5.51	-2.19	0.07015	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.587060	0.15426	N	0.262975	T	0.00012	0.0000	N	0.00162	-1.95	0.43852	P	0.0035570000000000324	B;B	0.10296	0.001;0.003	B;B	0.18871	0.008;0.023	T	0.39292	-0.9621	9	0.02654	T	1	-4.9597	11.2538	0.49041	0.6457:0.0:0.3543:0.0	rs1054487;rs2070086;rs3195022;rs17421591;rs52803796;rs60126972;rs1054487	312;312	G5E928;O00754	.;MA2B1_HUMAN	I	312;251;312	ENSP00000395473:T312I;ENSP00000221363:T312I	ENSP00000221363:T312I	T	-	2	0	MAN2B1	12633165	0.971000	0.33674	0.015000	0.15790	0.286000	0.27126	1.938000	0.40203	-0.506000	0.06558	-1.214000	0.01621	ACT	T|0.000;G|0.602;A|0.398	0.398	strong		0.527	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12772165	G	A	12772165	3	1	22	1	0	0	0	0	1	0	0	0	9216	1029	36	2	2172	2	MAN2B1	19	12772165	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5541	12772165	46356818	9559	14667										
FBXW9	84261	hgsc.bcm.edu	37	chr19	12800597	12800597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggataagctggaagcagccgTtgcggttggcgaagacgtgc	17	8	0	1	rs73921601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12800597T>C	ENST00000380339.3	-	7	1250	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.N395S|FBXW9_ENST00000393261.3_Missense_Mutation_p.N375S|FBXW9_ENST00000544494.1_Missense_Mutation_p.N113S			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	405					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GAAGCAGCCGTTGCGGTTGGC	0.652													T|||	245	0.0489217	0.1679	0.0187	5008	,	,		17279	0.0		0.0099	False		,,,				2504	0.0				p.N375S		Atlas-SNP	.											FBXW9_ENST00000393261,caecum,carcinoma,+1,3	FBXW9	30	3	0			c.A1124G						PASS	.	T	SER/ASN	686,3720	270.4+/-269.6	52,582,1569	60	63	62		1124	-0.8	0	19	dbSNP_130	62	125,8475	61.3+/-123.2	0,125,4175	yes	missense	FBXW9	NM_032301.2	46	52,707,5744	CC,CT,TT		1.4535,15.5697,6.2356	benign	375/459	12800597	811,12195	2203	4300	6503	SO:0001583	missense	84261	exon7			CAGCCGTTGCGGT	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1214A>G	19.37:g.12800597T>C	ENSP00000369696:p.Asn405Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	29	0.345238	NM_032301	B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		87	0.03983516483516483	73	0.1483739837398374	7	0.019337016574585635	0	0.0	7	0.009234828496042216	T	4.791	0.147100	0.09134	0.155697	0.014535	ENSG00000132004	ENST00000544494;ENST00000393261;ENST00000380339	T;T;T	0.75154	-0.91;-0.91;-0.91	4.32	-0.772	0.10998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	2.425580	0.01961	N	0.043380	T	0.00384	0.0012	L	0.27053	0.805	0.80722	P	0.0	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.12156	0.003;0.007;0.001	T	0.02326	-1.1176	9	0.21540	T	0.41	2.9217	4.636	0.12525	0.0:0.4404:0.1963:0.3633	.	395;405;375	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	S	113;375;405	ENSP00000442714:N113S;ENSP00000376945:N375S;ENSP00000369696:N405S	ENSP00000369696:N405S	N	-	2	0	FBXW9	12661597	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.137000	0.10389	0.154000	0.19237	0.397000	0.26171	AAC	T|0.944;C|0.056	0.056	strong		0.652	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		C	12800597	T	C	12800597	3	2	22	1	0	0	0	0	1	0	0	0	5771	1725	60	2	268	2	FBXW9	19	12800597	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28432	12800597	46328386	9560	14668										
FBXW9	84261	hgsc.bcm.edu	37	chr19	12805431	12805431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggtactatttcgcttagTgcctaaggtcttgatcagaa	10	7	2	2	rs10424623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12805431T>C	ENST00000380339.3	-	3	691	c.655A>G	c.(655-657)Act>Gct	p.T219A	FBXW9_ENST00000587955.1_Missense_Mutation_p.T209A|FBXW9_ENST00000393261.3_Missense_Mutation_p.T219A|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	219			T -> A (in dbSNP:rs10424623).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTTCGCTTAGTGCCTAAGGTC	0.562													T|||	748	0.149361	0.534	0.0461	5008	,	,		19047	0.0		0.0099	False		,,,				2504	0.0				p.T219A		Atlas-SNP	.											.	FBXW9	30	.	0			c.A655G						PASS	.	T	ALA/THR	1743,2441		372,999,721	65	74	71		655	2.1	0.2	19	dbSNP_119	71	133,8305		1,131,4087	yes	missense	FBXW9	NM_032301.2	58	373,1130,4808	CC,CT,TT		1.5762,41.6587,14.8629	benign	219/459	12805431	1876,10746	2092	4219	6311	SO:0001583	missense	84261	exon3			GCTTAGTGCCTAA	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.655A>G	19.37:g.12805431T>C	ENSP00000369696:p.Thr219Ala	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_032301	B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		244	0.11172161172161173	220	0.44715447154471544	17	0.04696132596685083	0	0.0	7	0.009234828496042216	T	5.162	0.215402	0.09810	0.416587	0.015762	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.51325	1.74;0.71	4.29	2.11	0.27256	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.565790	0.18087	N	0.152109	T	0.00012	0.0000	N	0.24115	0.695	0.21386	P	0.999707688	B;B;B	0.17268	0.013;0.009;0.021	B;B;B	0.16289	0.014;0.015;0.009	T	0.46219	-0.9207	9	0.32370	T	0.25	-17.2872	5.0146	0.14330	0.162:0.0922:0.0:0.7458	rs10424623	209;219;219	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	A	219	ENSP00000376945:T219A;ENSP00000369696:T219A	ENSP00000369696:T219A	T	-	1	0	FBXW9	12666431	0.259000	0.24043	0.235000	0.24058	0.003000	0.03518	0.704000	0.25661	0.190000	0.20209	0.379000	0.24179	ACT	T|0.921;C|0.079	0.079	strong		0.562	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		C	12805431	T	C	12805431	3	2	22	1	0	0	0	0	1	0	0	0	5771	1696	59	2	753	2	FBXW9	19	12805431	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4834	12805431	46323552	9561	14669										
FBXW9	84261	hgsc.bcm.edu	37	chr19	12805525	12805525	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcgggagcccgacagacaGagtgacccaccctggaaagg	13	13	1	3	rs10416965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12805525G>C	ENST00000380339.3	-	3	597	c.561C>G	c.(559-561)ctC>ctG	p.L187L	FBXW9_ENST00000393261.3_Silent_p.L187L|FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Silent_p.L177L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	187					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCGACAGACAGAGTGACCCAC	0.632													G|||	749	0.149561	0.5348	0.0461	5008	,	,		18468	0.0		0.0099	False		,,,				2504	0.0				p.L187L		Atlas-SNP	.											.	FBXW9	30	.	0			c.C561G						PASS	.	G		1693,2405		363,967,719	62	68	66		561	-2.5	0.1	19	dbSNP_119	66	131,8263		1,129,4067	no	coding-synonymous	FBXW9	NM_032301.2		364,1096,4786	CC,CG,GG		1.5606,41.3128,14.6013		187/459	12805525	1824,10668	2049	4197	6246	SO:0001819	synonymous_variant	84261	exon3			CAGACAGAGTGAC	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.561C>G	19.37:g.12805525G>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_032301	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37																																																																																				G|0.921;C|0.079	0.079	strong		0.632	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		C	12805525	G	C	12805525	2	2	22	1	0	0	0	0	0	0	0	1	5771	929	33	4		4	FBXW9	19	12805525	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94	12805525	46323458	9562	14670										
FBXW9	84261	hgsc.bcm.edu	37	chr19	12807066	12807066	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtcagacacgaggtcgcgGagcgcgtggcacacccgcga	16	13	1	1	rs6511832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12807066G>C	ENST00000380339.3	-	1	366	c.330C>G	c.(328-330)ctC>ctG	p.L110L	FBXW9_ENST00000587955.1_Silent_p.L110L|FBXW9_ENST00000393261.3_Silent_p.L110L|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	110	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CGAGGTCGCGGAGCGCGTGGC	0.721													C|||	748	0.149361	0.534	0.0461	5008	,	,		12393	0.0		0.0099	False		,,,				2504	0.0				p.L110L		Atlas-SNP	.											.	FBXW9	30	.	0			c.C330G						PASS	.	C		1528,2426		306,916,755	10	14	13		330	2.8	1	19	dbSNP_116	13	117,8057		1,115,3971	no	coding-synonymous	FBXW9	NM_032301.2		307,1031,4726	CC,CG,GG		1.4314,38.6444,13.5637		110/459	12807066	1645,10483	1977	4087	6064	SO:0001819	synonymous_variant	84261	exon1			GTCGCGGAGCGCG	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.330C>G	19.37:g.12807066G>C		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_032301	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37																																																																																				G|0.902;C|0.098	0.098	strong		0.721	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		C	12807066	G	C	12807066	2	2	22	1	0	0	0	0	0	0	0	1	5771	1161	41	4		4	FBXW9	19	12807066	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1541	12807066	46321917	9563	14671										
FBXW9	84261	hgsc.bcm.edu	37	chr19	12807187	12807187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcacttacggccgaaaccCtggacgcggcccgaggctcc	12	17	1	0	rs6511833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12807187C>T	ENST00000380339.3	-	1	245	c.209G>A	c.(208-210)aGg>aAg	p.R70K	FBXW9_ENST00000587955.1_Missense_Mutation_p.R70K|FBXW9_ENST00000393261.3_Missense_Mutation_p.R70K|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	70			R -> K (in dbSNP:rs6511833).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGCCGAAACCCTGGACGCGGC	0.692													T|||	748	0.149361	0.5333	0.0461	5008	,	,		12421	0.0		0.0109	False		,,,				2504	0.0				p.R70K		Atlas-SNP	.											.	FBXW9	30	.	0			c.G209A						PASS	.	T	LYS/ARG	1544,2262		327,890,686	14	18	17		209	-0.2	0	19	dbSNP_116	17	128,8068		4,120,3974	yes	missense	FBXW9	NM_032301.2	26	331,1010,4660	TT,TC,CC		1.5617,40.5675,13.931	benign	70/459	12807187	1672,10330	1903	4098	6001	SO:0001583	missense	84261	exon1			GAAACCCTGGACG	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.209G>A	19.37:g.12807187C>T	ENSP00000369696:p.Arg70Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_032301	B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		244	0.11172161172161173	220	0.44715447154471544	17	0.04696132596685083	0	0.0	7	0.009234828496042216	T	7.621	0.676786	0.14841	0.405675	0.015617	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.53857	0.6;0.6	5.0	-0.247	0.13019	.	0.338458	0.20979	N	0.082254	T	0.00012	0.0000	N	0.02916	-0.46	0.46849	P	7.759999999999989E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41998	-0.9477	9	0.02654	T	1	-7.7148	10.6828	0.45823	0.0:0.4314:0.0:0.5686	rs6511833;rs61227291;rs6511833	70;70	Q5XUX1-2;Q5XUX1-3	.;.	K	70	ENSP00000376945:R70K;ENSP00000369696:R70K	ENSP00000369696:R70K	R	-	2	0	FBXW9	12668187	0.063000	0.20901	0.023000	0.16930	0.194000	0.23727	-0.092000	0.11129	-0.309000	0.08779	-0.521000	0.04368	AGG	C|0.880;T|0.120	0.120	strong		0.692	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		T	12807187	C	T	12807187	3	4	22	1	0	0	0	0	1	0	0	0	5771	681	24	2	1207	2	FBXW9	19	12807187	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121	12807187	46321796	9564	14672										
TNPO2	30000	hgsc.bcm.edu	37	chr19	12812169	12812169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatgatcacctagaccccAtagaaagccgccagcctctc	6	17	2	3	rs16978628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12812169A>G	ENST00000592287.1	-	24	2793	c.2685T>C	c.(2683-2685)taT>taC	p.Y895Y	TNPO2_ENST00000588216.1_Silent_p.Y885Y|TNPO2_ENST00000441499.1_Silent_p.Y885Y|TNPO2_ENST00000425528.1_Silent_p.Y895Y|TNPO2_ENST00000356861.5_Silent_p.Y885Y|TNPO2_ENST00000450764.2_Silent_p.Y885Y	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	895					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTAGACCCCATAGAAAGCCG	0.567													G|||	808	0.161342	0.5787	0.0476	5008	,	,		13813	0.0		0.0099	False		,,,				2504	0.0				p.Y895Y		Atlas-SNP	.											.	TNPO2	108	.	0			c.T2685C						PASS	.	G	,,	1742,2040		428,886,577	54	57	56		2655,2685,2655	-4.6	1	19	dbSNP_123	56	127,8085		1,125,3980	no	coding-synonymous,coding-synonymous,coding-synonymous	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,,	429,1011,4557	GG,GA,AA		1.5465,46.0603,15.5828	,,	885/888,895/898,885/888	12812169	1869,10125	1891	4106	5997	SO:0001819	synonymous_variant	30000	exon24			GACCCCATAGAAA	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2685T>C	19.37:g.12812169A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	67	27	0.402985	NM_001136196	O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																			A|0.843;G|0.157	0.157	strong		0.567	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		G	12812169	A	G	12812169	2	3	22	1	0	0	0	0	0	0	0	1	16333	224	8	2		2	TNPO2	19	12812169	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4982	12812169	46316814	9565	14673										
TNPO2	30000	hgsc.bcm.edu	37	chr19	12813683	12813683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttgggtcggttaatgatTtccaccaggttgttgaggac	14	6	0	2	rs16978630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12813683T>C	ENST00000592287.1	-	20	2367	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	TNPO2_ENST00000588216.1_Silent_p.E753E|TNPO2_ENST00000441499.1_Silent_p.E753E|TNPO2_ENST00000425528.1_Silent_p.E753E|TNPO2_ENST00000356861.5_Silent_p.E753E|TNPO2_ENST00000450764.2_Silent_p.E753E	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	753					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTAATGATTTCCACCAGGT	0.632													C|||	747	0.149161	0.5333	0.0461	5008	,	,		16704	0.0		0.0099	False		,,,				2504	0.0				p.E753E		Atlas-SNP	.											.	TNPO2	108	.	0			c.A2259G						PASS	.	C	,,	1692,2404		359,974,715	244	265	258		2259,2259,2259	1	1	19	dbSNP_123	258	127,8261		1,125,4068	no	coding-synonymous,coding-synonymous,coding-synonymous	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,,	360,1099,4783	CC,CT,TT		1.5141,41.3086,14.5707	,,	753/888,753/898,753/888	12813683	1819,10665	2048	4194	6242	SO:0001819	synonymous_variant	30000	exon20			AATGATTTCCACC	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2259A>G	19.37:g.12813683T>C		Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	314	141	0.449045	NM_013433	O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																			T|0.866;C|0.134	0.134	strong		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		C	12813683	T	C	12813683	2	2	22	1	0	0	0	0	0	0	0	1	16333	1838	64	2		2	TNPO2	19	12813683	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1514	12813683	46315300	9566	14674										
TNPO2	30000	hgsc.bcm.edu	37	chr19	12816559	12816559	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccacttctggatcagtggGggcatcagcttctggatgta	12	9	4	0	rs7248726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12816559G>T	ENST00000592287.1	-	15	1800	c.1692C>A	c.(1690-1692)ccC>ccA	p.P564P	TNPO2_ENST00000588216.1_Silent_p.P564P|TNPO2_ENST00000441499.1_Silent_p.P564P|TNPO2_ENST00000425528.1_Silent_p.P564P|TNPO2_ENST00000356861.5_Silent_p.P564P|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000450764.2_Silent_p.P564P	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	564					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATCAGTGGGGGCATCAGCT	0.597													G|||	739	0.147564	0.5272	0.0461	5008	,	,		18127	0.0		0.0099	False		,,,				2504	0.0				p.P564P		Atlas-SNP	.											.	TNPO2	108	.	0			c.C1692A						PASS	.	G	,,	1656,2570		326,1004,783	32	32	32		1692,1692,1692	-10.9	0.2	19	dbSNP_116	32	119,8253		2,115,4069	no	coding-synonymous,coding-synonymous,coding-synonymous	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,,	328,1119,4852	TT,TG,GG		1.4214,39.186,14.0895	,,	564/888,564/898,564/888	12816559	1775,10823	2113	4186	6299	SO:0001819	synonymous_variant	30000	exon15			CAGTGGGGGCATC	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1692C>A	19.37:g.12816559G>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	149	78	0.52349	NM_013433	O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																			G|0.849;T|0.151	0.151	strong		0.597	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12816559	G	T	12816559	2	4	22	1	0	0	0	0	0	0	0	1	16333	1219	43	4		4	TNPO2	19	12816559	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2876	12816559	46312424	9567	14675										
MAST1	22983	hgsc.bcm.edu	37	chr19	12978556	12978556	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgcagcaagcgattctcCgcgtccgaggccagtttcct	10	15	1	0	rs202159363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:12978556C>G	ENST00000251472.4	+	20	2370	c.2331C>G	c.(2329-2331)tcC>tcG	p.S777S		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGCGATTCTCCGCGTCCGAGG	0.687													C|||	59	0.0117812	0.0431	0.0029	5008	,	,		13407	0.0		0.0	False		,,,				2504	0.0				p.S777S		Atlas-SNP	.											.	MAST1	214	.	0			c.C2331G						PASS	.	C		118,4146		0,118,2014	7	7	7		2331	-9	0.1	19		7	1,8357		0,1,4178	no	coding-synonymous	MAST1	NM_014975.2		0,119,6192	GG,GC,CC		0.012,2.7674,0.9428		777/1571	12978556	119,12503	2132	4179	6311	SO:0001819	synonymous_variant	22983	exon20			ATTCTCCGCGTCC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2331C>G	19.37:g.12978556C>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	62	33	0.532258	NM_014975		Silent	SNP	ENST00000251472.4	37	CCDS32921.1																																																																																			C|0.995;G|0.005	0.005	strong		0.687	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		G	12978556	C	G	12978556	2	3	22	1	0	0	0	0	0	0	0	1	9324	639	23	4		4	MAST1	19	12978556	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	161997	12978556	46150427	9568	14676										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13323261	13323261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttccggactccatgtgccCgtcttctggaacatctcctg	9	14	3	0	rs7249722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13323261C>T	ENST00000360228.5	-	42	6125	c.6126G>A	c.(6124-6126)acG>acA	p.T2042T	CACNA1A_ENST00000573710.2_Silent_p.T2043T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2043					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATGTGCCCGTCTTCTGGA	0.647													C|||	48	0.00958466	0.0356	0.0014	5008	,	,		15991	0.0		0.0	False		,,,				2504	0.0				p.T2043T		Atlas-SNP	.											.	CACNA1A	715	.	0			c.G6129A						PASS	.	C	,,,,	100,3864		1,98,1883	30	34	33		6144,6129,6126,6135,6144	-8.6	0.8	19	dbSNP_116	33	1,8295		0,1,4147	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	1,99,6030	TT,TC,CC		0.0121,2.5227,0.8238	,,,,	2048/2267,2043/2262,2042/2507,2045/2264,2048/2513	13323261	101,12159	1982	4148	6130	SO:0001819	synonymous_variant	773	exon42			TGTGCCCGTCTTC	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6126G>A	19.37:g.13323261C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	109	49	0.449541	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			C|0.996;T|0.004	0.004	strong		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13323261	C	T	13323261	2	4	22	1	0	0	0	0	0	0	0	1	2538	639	23	1		1	CACNA1A	19	13323261	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	344705	13323261	45805722	9569	14677										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13409390	13409390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctccgctccttgtcctcCctccgcgcgtccccctcgta	7	22	0	0	rs16025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13409390C>T	ENST00000360228.5	-	19	3056	c.3057G>A	c.(3055-3057)agG>agA	p.R1019R	CACNA1A_ENST00000573710.2_Silent_p.R1020R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1020					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTGTCCTCCCTCCGCGCGT	0.652													C|||	620	0.123802	0.1203	0.1369	5008	,	,		9654	0.1171		0.1501	False		,,,				2504	0.0992				p.R1020R		Atlas-SNP	.											CACNA1A_ENST00000360228,NS,carcinoma,0,4	CACNA1A	715	4	0			c.G3060A						scavenged	.	C	,,,,	371,2877		22,327,1275	22	23	23		3069,3060,3057,3060,3069	2	1	19	dbSNP_54	23	798,5418		47,704,2357	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	69,1031,3632	TT,TC,CC		12.8378,11.4224,12.3521	,,,,	1023/2267,1020/2262,1019/2507,1020/2264,1023/2513	13409390	1169,8295	1624	3108	4732	SO:0001819	synonymous_variant	773	exon19			GTCCTCCCTCCGC	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3057G>A	19.37:g.13409390C>T		Somatic	168	2	0.0119048		WXS	Illumina HiSeq	Phase_I	150	148	0.986667	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			C|0.871;T|0.129	0.129	strong		0.652	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13409390	C	T	13409390	2	4	22	1	0	0	0	0	0	0	0	1	2538	622	22	2		2	CACNA1A	19	13409390	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86129	13409390	45719593	9570	14678										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13563767	13563767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtggaaggcaaacccaagGgcaatgattttaattccagc	10	8	0	1	rs1800039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13563767G>A	ENST00000360228.5	-	3	461	c.462C>T	c.(460-462)gcC>gcT	p.A154A	CACNA1A_ENST00000573710.2_Silent_p.A154A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	154					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAACCCAAGGGCAATGATTT	0.493													G|||	48	0.00958466	0.0356	0.0014	5008	,	,		21794	0.0		0.0	False		,,,				2504	0.0				p.A154A		Atlas-SNP	.											.	CACNA1A	715	.	0			c.C462T						PASS	.	G	,,,,	82,3876		1,80,1898	154	150	151		462,462,462,462,462	2.4	1	19	dbSNP_89	151	5,8333		0,5,4164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	1,85,6062	AA,AG,GG		0.06,2.0718,0.7075	,,,,	154/2267,154/2262,154/2507,154/2264,154/2513	13563767	87,12209	1979	4169	6148	SO:0001819	synonymous_variant	773	exon3			CCCAAGGGCAATG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.462C>T	19.37:g.13563767G>A		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	216	98	0.453704	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			G|0.992;A|0.008	0.008	strong		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13563767	G	A	13563767	2	1	22	1	0	0	0	0	0	0	0	1	2538	1219	43	2		2	CACNA1A	19	13563767	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	154377	13563767	45565216	9571	14679										
CCDC130	81576	hgsc.bcm.edu	37	chr19	13873793	13873793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcgccagcaggctcctccCaggaggcagctgacaccccc	11	18	0	1	rs138278370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13873793C>A	ENST00000586600.1	+	11	1605	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K	MRI1_ENST00000319545.8_5'Flank|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.Q368K			P13994	CC130_HUMAN	coiled-coil domain containing 130	368					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGGCTCCTCCCAGGAGGCAGC	0.667													C|||	22	0.00439297	0.0159	0.0014	5008	,	,		13510	0.0		0.0	False		,,,				2504	0.0				p.Q368K		Atlas-SNP	.											.	CCDC130	25	.	0			c.C1102A						PASS	.	C	LYS/GLN	82,4310		0,82,2114	14	17	16		1102	4.5	0	19	dbSNP_134	16	1,8579		0,1,4289	yes	missense	CCDC130	NM_030818.2	53	0,83,6403	AA,AC,CC		0.0117,1.867,0.6398	benign	368/397	13873793	83,12889	2196	4290	6486	SO:0001583	missense	81576	exon10			TCCTCCCAGGAGG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.1102C>A	19.37:g.13873793C>A	ENSP00000465776:p.Gln368Lys	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	40	13	0.325	NM_030818	Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	CCDS12296.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	11.27	1.590016	0.28357	0.01867	1.17E-4	ENSG00000104957	ENST00000221554	T	0.27557	1.66	4.49	4.49	0.54785	.	0.852666	0.09747	N	0.761109	T	0.13970	0.0338	L	0.57536	1.79	0.24401	N	0.994709	B;B	0.27625	0.183;0.183	B;B	0.25506	0.061;0.061	T	0.37407	-0.9707	10	0.06494	T	0.89	-10.5446	8.8286	0.35069	0.0:0.8959:0.0:0.1041	.	368;368	B3KUZ1;P13994	.;CC130_HUMAN	K	368	ENSP00000221554:Q368K	ENSP00000221554:Q368K	Q	+	1	0	CCDC130	13734793	0.003000	0.15002	0.033000	0.17914	0.220000	0.24768	0.327000	0.19663	2.230000	0.72887	0.491000	0.48974	CAG	C|0.994;A|0.006	0.006	strong		0.667	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		A	13873793	C	A	13873793	3	1	22	1	0	0	0	0	1	0	0	0	2766	595	21	4	1136	4	CCDC130	19	13873793	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	310026	13873793	45255190	9572	14680										
MRI1	81576	hgsc.bcm.edu	37	chr19	13875453	13875453	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctccctgcagatcctagaCcagctgctgctgcccaagca	10	16	0	2	rs141796284	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13875453C>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Silent_p.D17D|MRI1_ENST00000040663.6_Silent_p.D17D			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGATCCTAGACCAGCTGCTGC	0.706													C|||	22	0.00439297	0.0159	0.0014	5008	,	,		6970	0.0		0.0	False		,,,				2504	0.0				p.D17D		Atlas-SNP	.											.	MRI1	35	.	0			c.C51T						PASS	.	C	,	91,4295		0,91,2102	24	27	26		51,51	4.1	1	19	dbSNP_134	26	1,8565		0,1,4282	no	coding-synonymous,coding-synonymous	MRI1	NM_001031727.2,NM_032285.2	,	0,92,6384	TT,TC,CC		0.0117,2.0748,0.7103	,	17/370,17/323	13875453	92,12860	2193	4283	6476	SO:0001628	intergenic_variant	84245	exon1			CCTAGACCAGCTG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875453C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	123	48	0.390244	NM_001031727	Q9BQ72	Silent	SNP	ENST00000586600.1	37	CCDS12296.1																																																																																			C|0.993;T|0.007	0.007	strong		0.706	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		T	13875453	C	T	13875453	1	4	22	0	1	0	0	0	0	0	0	0	9770	506	18	2		2	MRI1	19	13875453	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1660	13875453	45253530	9573	14681										
ZSWIM4	65249	hgsc.bcm.edu	37	chr19	13936385	13936385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaccccaagtggctgcacaCggtactgggctccatccagc	11	15	0	1	rs62620757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:13936385C>T	ENST00000254323.2	+	11	2075	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T463M	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	629				T -> M (in Ref. 1; BAB15742). {ECO:0000305}.			zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGGCTGCACACGGTACTGGGC	0.637													C|||	594	0.11861	0.1634	0.085	5008	,	,		15642	0.122		0.0805	False		,,,				2504	0.1176				p.T629M		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.C1886T						PASS	.	C	MET/THR	634,3772	271.0+/-269.9	48,538,1617	86	88	87		1886	4	0.4	19	dbSNP_129	87	628,7972	162.0+/-214.8	19,590,3691	yes	missense	ZSWIM4	NM_023072.2	81	67,1128,5308	TT,TC,CC		7.3023,14.3895,9.7032	probably-damaging	629/990	13936385	1262,11744	2203	4300	6503	SO:0001583	missense	65249	exon11			TGCACACGGTACT	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1886C>T	19.37:g.13936385C>T	ENSP00000254323:p.Thr629Met	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	255	0.11675824175824176	82	0.16666666666666666	38	0.10497237569060773	70	0.12237762237762238	65	0.08575197889182058	C	12.12	1.841425	0.32513	0.143895	0.073023	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.47869	0.83;0.83	3.99	3.99	0.46301	.	1.016850	0.07928	N	0.977092	T	0.00210	0.0006	L	0.60455	1.87	0.44254	P	0.0028920000000000057	B;B	0.25667	0.004;0.131	B;B	0.29440	0.002;0.102	T	0.09335	-1.0679	9	0.54805	T	0.06	-29.1387	13.598	0.62002	0.0:1.0:0.0:0.0	rs62620757	463;629	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	M	629;463	ENSP00000254323:T629M;ENSP00000405278:T463M	ENSP00000254323:T629M	T	+	2	0	ZSWIM4	13797385	0.960000	0.32886	0.429000	0.26710	0.596000	0.36781	2.353000	0.44089	2.059000	0.61396	0.591000	0.81541	ACG	C|0.892;T|0.108	0.108	strong		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		T	13936385	C	T	13936385	3	4	22	1	0	0	0	0	1	0	0	0	18240	536	19	1	1928	1	ZSWIM4	19	13936385	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	60932	13936385	45192598	9574	14682										
C19orf57	79173	hgsc.bcm.edu	37	chr19	14006300	14006300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacatggaactctgggggtCcccatagaagtctcctagcc	10	13	2	1	rs58722011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14006300C>A	ENST00000586783.1	-	2	90	c.91G>T	c.(91-93)Gac>Tac	p.D31Y	C19orf57_ENST00000591586.1_Missense_Mutation_p.D31Y|C19orf57_ENST00000454313.1_Missense_Mutation_p.D31Y|C19orf57_ENST00000346736.2_Missense_Mutation_p.D31Y			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	31					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTCTGGGGGTCCCCATAGAAG	0.547													C|||	160	0.0319489	0.118	0.0058	5008	,	,		17727	0.0		0.0	False		,,,				2504	0.0				p.D31Y		Atlas-SNP	.											.	C19orf57	34	.	0			c.G91T						PASS	.	C	TYR/ASP	352,4054	182.9+/-210.6	15,322,1866	171	183	179		91	-1.8	0	19	dbSNP_129	179	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C19orf57	NM_024323.3	160	15,323,6165	AA,AC,CC		0.0116,7.9891,2.7141	probably-damaging	31/638	14006300	353,12653	2203	4300	6503	SO:0001583	missense	79173	exon3			GGGGGTCCCCATA	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.91G>T	19.37:g.14006300C>A	ENSP00000465822:p.Asp31Tyr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	174	79	0.454023	NM_024323	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37		60	0.027472527472527472	59	0.11991869918699187	1	0.0027624309392265192	0	0.0	0	0.0	C	12.10	1.837639	0.32513	0.079891	1.16E-4	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.38401	1.14;1.14	4.12	-1.78	0.07957	.	1.528260	0.04542	N	0.388298	T	0.00300	0.0009	N	0.19112	0.55	0.09310	N	1	P	0.42620	0.785	B	0.37346	0.247	T	0.06661	-1.0814	10	0.56958	D	0.05	0.0377	4.2284	0.10590	0.0:0.4118:0.1831:0.4051	rs58722011	31	Q0VDD7-2	.	Y	31	ENSP00000404382:D31Y;ENSP00000254336:D31Y	ENSP00000254336:D31Y	D	-	1	0	C19orf57	13867300	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.800000	0.04555	-0.166000	0.10890	-0.743000	0.03520	GAC	C|0.974;A|0.026	0.026	strong		0.547	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		A	14006300	C	A	14006300	3	1	22	1	0	0	0	0	1	0	0	0	1939	855	30	4	1846	4	C19orf57	19	14006300	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69915	14006300	45122683	9575	14683										
CC2D1A	54862	hgsc.bcm.edu	37	chr19	14023191	14023191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctgtgcatgagagacccGgatgaggatgaggaggaggg	19	6	0	4	rs7250180	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14023191G>A	ENST00000318003.7	+	3	493	c.252G>A	c.(250-252)ccG>ccA	p.P84P	CC2D1A_ENST00000589606.1_Silent_p.P84P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	84					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGAGAGACCCGGATGAGGATG	0.632													G|||	480	0.0958466	0.3427	0.0216	5008	,	,		19053	0.0		0.002	False		,,,				2504	0.0102				p.P84P		Atlas-SNP	.											.	CC2D1A	67	.	0			c.G252A						PASS	.	G		1189,3129		165,859,1135	61	73	69		252	-3.8	0.3	19	dbSNP_116	69	29,8473		0,29,4222	no	coding-synonymous	CC2D1A	NM_017721.4		165,888,5357	AA,AG,GG		0.3411,27.5359,9.5008		84/952	14023191	1218,11602	2159	4251	6410	SO:0001819	synonymous_variant	54862	exon3			AGACCCGGATGAG	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.252G>A	19.37:g.14023191G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	CCDS42512.1																																																																																			G|0.919;A|0.081	0.081	strong		0.632	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		A	14023191	G	A	14023191	2	1	22	1	0	0	0	0	0	0	0	1	2726	1103	39	1		1	CC2D1A	19	14023191	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16891	14023191	45105792	9576	14684										
CC2D1A	54862	hgsc.bcm.edu	37	chr19	14029627	14029627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctacggcgccctccacaAcaggtaggttctgggaccct	11	16	1	0	rs11883041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14029627A>C	ENST00000318003.7	+	9	1256	c.1015A>C	c.(1015-1017)Aca>Cca	p.T339P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.T339P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	339	Pro-rich.		T -> P (in dbSNP:rs11883041).		positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCTCCACAACAGGTAGGTT	0.667													C|||	325	0.0648962	0.2284	0.0159	5008	,	,		14367	0.0		0.002	False		,,,				2504	0.0102				p.T339P		Atlas-SNP	.											.	CC2D1A	67	.	0			c.A1015C						PASS	.	C	PRO/THR	682,3144		67,548,1298	28	33	31		1015	5.1	0.9	19	dbSNP_120	31	24,8200		0,24,4088	yes	missense	CC2D1A	NM_017721.4	38	67,572,5386	CC,CA,AA		0.2918,17.8254,5.8589	benign	339/952	14029627	706,11344	1913	4112	6025	SO:0001583	missense	54862	exon9			TCCACAACAGGTA	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1015A>C	19.37:g.14029627A>C	ENSP00000313601:p.Thr339Pro	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	91	53	0.582418	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	CCDS42512.1	111	0.050824175824175824	102	0.2073170731707317	8	0.022099447513812154	0	0.0	1	0.0013192612137203166	C	0.076	-1.192871	0.01607	0.178254	0.002918	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.39056	1.1	5.05	5.05	0.67936	.	0.269287	0.37623	N	0.002004	T	0.00012	0.0000	N	0.00788	-1.185	0.54753	P	2.0000000000020002E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16958	-1.0385	9	0.02654	T	1	-5.773	10.9037	0.47067	0.1877:0.8123:0.0:0.0	rs11883041;rs11883041	339;339;93	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	P	339;93	ENSP00000313601:T339P	ENSP00000313601:T339P	T	+	1	0	CC2D1A	13890627	0.965000	0.33210	0.874000	0.34290	0.095000	0.18619	2.306000	0.43673	1.370000	0.46153	-0.217000	0.12591	ACA	A|0.943;C|0.057	0.057	strong		0.667	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		C	14029627	A	C	14029627	3	2	22	1	0	0	0	0	1	0	0	0	2726	43	2	5	1049	5	CC2D1A	19	14029627	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6436	14029627	45099356	9577	14685										
CC2D1A	54862	hgsc.bcm.edu	37	chr19	14030689	14030689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccagcagagtctggtgggTgtcctggagactgccatgaa	14	10	1	3	rs10410239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14030689T>C	ENST00000318003.7	+	12	1522	c.1281T>C	c.(1279-1281)ggT>ggC	p.G427G	CC2D1A_ENST00000589606.1_Silent_p.G427G	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	427					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTCTGGTGGGTGTCCTGGAGA	0.622													C|||	2110	0.421326	0.8154	0.3256	5008	,	,		14061	0.3016		0.2078	False		,,,				2504	0.2996				p.G427G		Atlas-SNP	.											.	CC2D1A	67	.	0			c.T1281C						PASS	.	C		2729,1057		992,745,156	50	58	55		1281	-9.9	0.4	19	dbSNP_119	55	1706,6544		180,1346,2599	no	coding-synonymous	CC2D1A	NM_017721.4		1172,2091,2755	CC,CT,TT		20.6788,27.9186,36.8478		427/952	14030689	4435,7601	1893	4125	6018	SO:0001819	synonymous_variant	54862	exon12			GGTGGGTGTCCTG	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1281T>C	19.37:g.14030689T>C		Somatic	242	1	0.00413223		WXS	Illumina HiSeq	Phase_I	219	217	0.990868	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	CCDS42512.1																																																																																			T|0.665;C|0.335	0.335	strong		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		C	14030689	T	C	14030689	2	2	22	1	0	0	0	0	0	0	0	1	2726	1683	59	2		2	CC2D1A	19	14030689	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1062	14030689	45098294	9578	14686										
PODNL1	79883	hgsc.bcm.edu	37	chr19	14043843	14043843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgcagggcacgcaaccggCggaaggcccggtggtgcaca	17	13	0	0	rs80103045	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14043843C>T	ENST00000339560.5	-	8	1487	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	PODNL1_ENST00000254320.3_Missense_Mutation_p.R323H|PODNL1_ENST00000538371.2_Missense_Mutation_p.R403H|PODNL1_ENST00000538517.2_Missense_Mutation_p.R314H	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	405	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			ACGCAACCGGCGGAAGGCCCG	0.711													C|||	153	0.0305511	0.1074	0.0029	5008	,	,		15309	0.0		0.001	False		,,,				2504	0.0082				p.R405H		Atlas-SNP	.											.	PODNL1	27	.	0			c.G1214A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	318,3856		6,306,1775	6	7	7		1208,941,1214	3.8	0.9	19	dbSNP_131	7	17,8171		0,17,4077	yes	missense,missense,missense	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	29,29,29	6,323,5852	TT,TC,CC		0.2076,7.6186,2.7099	probably-damaging,probably-damaging,probably-damaging	403/511,314/422,405/513	14043843	335,12027	2087	4094	6181	SO:0001583	missense	79883	exon8			AACCGGCGGAAGG	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1214G>A	19.37:g.14043843C>T	ENSP00000345175:p.Arg405His	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_024825	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	13.68	2.309090	0.40895	0.076186	0.002076	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.79	3.76	0.43208	.	0.451987	0.18547	N	0.138005	T	0.02267	0.0070	N	0.16066	0.365	0.26971	N	0.965586	B;B;B;B	0.29037	0.046;0.231;0.113;0.224	B;B;B;B	0.33690	0.046;0.115;0.052;0.168	T	0.04400	-1.0954	10	0.51188	T	0.08	.	10.0503	0.42212	0.0:0.9024:0.0:0.0976	.	403;323;314;405	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	H	403;314;405;255;323	ENSP00000442553:R403H;ENSP00000440080:R314H;ENSP00000345175:R405H;ENSP00000254320:R323H	ENSP00000254320:R323H	R	-	2	0	PODNL1	13904843	0.997000	0.39634	0.903000	0.35520	0.313000	0.28021	2.510000	0.45468	1.015000	0.39444	0.453000	0.30009	CGC	C|0.980;T|0.020	0.020	strong		0.711	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		T	14043843	C	T	14043843	3	4	22	1	0	0	0	0	1	0	0	0	12179	768	27	1	328	1	PODNL1	19	14043843	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13154	14043843	45085140	9579	14687										
DCAF15	90379	hgsc.bcm.edu	37	chr19	14066772	14066772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagatctacagcgacctgTacctgaccgtatgcgagtgg	13	10	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14066772T>C	ENST00000254337.6	+	4	436	c.415T>C	c.(415-417)Tac>Cac	p.Y139H	PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000538517.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	139					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CAGCGACCTGTACCTGACCGT	0.642																																					p.Y139H		Atlas-SNP	.											.	DCAF15	30	.	0			c.T415C						PASS	.						110	101	104					19																	14066772		2203	4300	6503	SO:0001583	missense	90379	exon4			GACCTGTACCTGA	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.415T>C	19.37:g.14066772T>C	ENSP00000254337:p.Tyr139His	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	113	5	0.0442478	NM_138353	B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	t	13.68	2.309631	0.40895	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000006	T	0.40247	0.1109	L	0.43152	1.355	0.47276	D	0.999373	P	0.42456	0.78	B	0.35353	0.201	T	0.28522	-1.0041	9	0.28530	T	0.3	-18.254	12.2557	0.54623	0.0:0.0:0.0:1.0	.	139	Q66K64	DCA15_HUMAN	H	139	.	ENSP00000254337:Y139H	Y	+	1	0	DCAF15	13927772	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.528000	0.81941	1.610000	0.50200	0.459000	0.35465	TAC	.	.	none		0.642	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		C	14066772	T	C	14066772	3	2	22	1	0	0	0	0	1	0	0	0	4267	1638	57	2	429	2	DCAF15	19	14066772	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	22929	14066772	45062211	9580	14688										
IL27RA	9466	hgsc.bcm.edu	37	chr19	14142705	14142705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcggggaggcaggggcgcCcctttctggctgtggccgct	18	12	1	0	rs113593439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14142705C>T	ENST00000263379.2	+	1	146	c.21C>T	c.(19-21)gcC>gcT	p.A7A	CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	7				A -> G (in Ref. 3; AAG27297 and 5; AAQ89235). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCAGGGGCGCCCCTTTCTGGC	0.721													C|||	588	0.117412	0.1641	0.1282	5008	,	,		11265	0.12		0.0517	False		,,,				2504	0.1115				p.A7A	Colon(164;1849 1896 4443 37792 47834)	Atlas-SNP	.											IL27RA,NS,haematopoietic_neoplasm,0,2	IL27RA	56	2	0			c.C21T						PASS	.	C		560,3818		37,486,1666	11	13	12		21	-1.2	0	19	dbSNP_132	12	524,8042		18,488,3777	no	coding-synonymous	IL27RA	NM_004843.2		55,974,5443	TT,TC,CC		6.1172,12.7912,8.3745		7/637	14142705	1084,11860	2189	4283	6472	SO:0001819	synonymous_variant	9466	exon1			GGGCGCCCCTTTC	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.21C>T	19.37:g.14142705C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_004843	A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	CCDS12303.1																																																																																			C|0.891;T|0.109	0.109	strong		0.721	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		T	14142705	C	T	14142705	2	4	22	1	0	0	0	0	0	0	0	1	7681	610	22	2		2	IL27RA	19	14142705	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75933	14142705	44986278	9581	14689										
PRKACA	5566	hgsc.bcm.edu	37	chr19	14204527	14204527	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattcttgaggttcccaaaGcgcttggtgagatctacctg	10	11	2	2	rs3729858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14204527G>C	ENST00000308677.4	-	9	1039	c.843C>G	c.(841-843)cgC>cgG	p.R281R	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_Silent_p.R273R	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTTCCCAAAGCGCTTGGTGA	0.547													G|||	29	0.00579073	0.0219	0.0	5008	,	,		20834	0.0		0.0	False		,,,				2504	0.0				p.R281R		Atlas-SNP	.											.	PRKACA	65	.	0			c.C843G						PASS	.	G	,	80,4326	69.2+/-107.0	1,78,2124	142	126	131		843,819	5.2	1	19	dbSNP_107	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKACA	NM_002730.3,NM_207518.1	,	1,78,6424	CC,CG,GG		0.0,1.8157,0.6151	,	281/352,273/344	14204527	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	5566	exon9			CCCAAAGCGCTTG		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.843C>G	19.37:g.14204527G>C		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	165	85	0.515152	NM_002730	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	CCDS12304.1																																																																																			G|0.995;C|0.005	0.005	strong		0.547	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		C	14204527	G	C	14204527	2	2	22	1	0	0	0	0	0	0	0	1	12497	958	34	4		4	PRKACA	19	14204527	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61822	14204527	44924456	9582	14690										
DNAJB1	3337	hgsc.bcm.edu	37	chr19	14629150	14629150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcccaacgtctggtagtaGtctttacccatgaccccctc	8	15	2	1	rs3962158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14629150G>A	ENST00000254322.2	-	1	82	c.12C>T	c.(10-12)gaC>gaT	p.D4D	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	4	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TCTGGTAGTAGTCTTTACCCA	0.706													G|||	1717	0.342851	0.4493	0.3343	5008	,	,		9161	0.1071		0.3211	False		,,,				2504	0.4703				p.D4D		Atlas-SNP	.											.	DNAJB1	38	.	0			c.C12T						PASS	.	G		1765,2629		361,1043,793	22	23	23		12	-4.9	1	19	dbSNP_108	23	2657,5935		462,1733,2101	no	coding-synonymous	DNAJB1	NM_006145.1		823,2776,2894	AA,AG,GG		30.9241,40.1684,34.0521		4/341	14629150	4422,8564	2197	4296	6493	SO:0001819	synonymous_variant	3337	exon1			GTAGTAGTCTTTA	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.12C>T	19.37:g.14629150G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	34	17	0.5	NM_006145	B4DX52	Silent	SNP	ENST00000254322.2	37	CCDS12312.1																																																																																			G|0.685;A|0.315	0.315	strong		0.706	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		A	14629150	G	A	14629150	2	1	22	1	0	0	0	0	0	0	0	1	4615	1020	36	2		2	DNAJB1	19	14629150	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	424623	14629150	44499833	9583	14691										
EMR3	84658	hgsc.bcm.edu	37	chr19	14740942	14740942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccatgacctgggcagctGgacccacctgtagcaagccc	12	15	0	1	rs78700925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14740942G>A	ENST00000253673.5	-	14	1821	c.1721C>T	c.(1720-1722)cCa>cTa	p.P574L	EMR3_ENST00000599900.1_Missense_Mutation_p.P359L|EMR3_ENST00000443157.2_Missense_Mutation_p.P448L|EMR3_ENST00000344373.4_Missense_Mutation_p.P522L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	574					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGGGCAGCTGGACCCACCTG	0.542													G|||	94	0.01877	0.0688	0.0043	5008	,	,		14251	0.0		0.0	False		,,,				2504	0.0				p.P574L		Atlas-SNP	.											.	EMR3	99	.	0			c.C1721T						PASS	.	G	LEU/PRO	203,4203	126.6+/-163.6	4,195,2004	109	92	98		1721	2.7	0	19	dbSNP_131	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EMR3	NM_032571.3	98	4,196,6303	AA,AG,GG		0.0116,4.6074,1.5685	possibly-damaging	574/653	14740942	204,12802	2203	4300	6503	SO:0001583	missense	84658	exon14			GCAGCTGGACCCA	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1721C>T	19.37:g.14740942G>A	ENSP00000253673:p.Pro574Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	117	56	0.478632	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	29	0.013278388278388278	29	0.05894308943089431	0	0.0	0	0.0	0	0.0	G	10.10	1.256668	0.22965	0.046074	1.16E-4	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.41065	1.03;1.01;1.01	3.76	2.72	0.32119	GPCR, family 2-like (1);	.	.	.	.	T	0.19805	0.0476	M	0.88570	2.965	0.20489	N	0.999896	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.87578	0.996;0.998;0.968	T	0.17319	-1.0373	9	0.87932	D	0	.	9.204	0.37278	0.1094:0.0:0.8906:0.0	.	448;522;574	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	L	448;574;522	ENSP00000396208:P448L;ENSP00000253673:P574L;ENSP00000340758:P522L	ENSP00000253673:P574L	P	-	2	0	EMR3	14601942	0.037000	0.19845	0.031000	0.17742	0.029000	0.11900	2.165000	0.42396	0.923000	0.37045	-0.136000	0.14681	CCA	G|0.984;A|0.016	0.016	strong		0.542	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		A	14740942	G	A	14740942	3	1	22	1	0	0	0	0	1	0	0	0	5106	1348	47	2	249	2	EMR3	19	14740942	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111792	14740942	44388041	9584	14692										
EMR2	30817	hgsc.bcm.edu	37	chr19	14877820	14877820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcgggtcctcaggtttgaGcttgaagccaggcaggcact	13	11	1	2	rs12976493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14877820G>A	ENST00000315576.3	-	6	908	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	EMR2_ENST00000392965.3_Missense_Mutation_p.L153F|EMR2_ENST00000392967.2_Missense_Mutation_p.L153F|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.L153F|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L153F|EMR2_ENST00000601345.1_Missense_Mutation_p.L153F|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.L153F|EMR2_ENST00000594076.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCAGGTTTGAGCTTGAAGCCA	0.597													G|||	2024	0.404153	0.5749	0.4366	5008	,	,		12315	0.3373		0.4473	False		,,,				2504	0.1748				p.L153F		Atlas-SNP	.											EMR2,larynx,carcinoma,+2,1	EMR2	99	1	0			c.C457T						scavenged	.						58	59	59					19																	14877820		1523	3365	4888	SO:0001583	missense	30817	exon5			GTTTGAGCTTGAA	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.457C>T	19.37:g.14877820G>A	ENSP00000319883:p.Leu153Phe	Somatic	63	2	0.031746		WXS	Illumina HiSeq	Phase_I	15	15	1	NM_001271052	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	767	0.35119047619047616	232	0.4715447154471545	141	0.38950276243093923	148	0.25874125874125875	246	0.3245382585751979	G	0.014	-1.577939	0.00879	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;T;D;D	0.88741	-2.42;-2.42;-1.42;-2.42;-2.42	3.06	-6.11	0.02131	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.48218	1.51	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.15954	-1.0419	8	0.09843	T	0.71	.	6.3278	0.21253	0.607:0.0:0.2568:0.1362	rs12976493	153;153;153;153	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	F	153	ENSP00000319883:L153F;ENSP00000376694:L153F;ENSP00000263380:L153F;ENSP00000376692:L153F;ENSP00000376689:L153F	ENSP00000319883:L153F	L	-	1	0	EMR2	14738820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-1.716000	0.01387	-1.973000	0.00462	CTC	A|1.000;|0.000	1.000	weak		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14877820	G	A	14877820	3	1	22	1	0	0	0	0	1	0	0	0	5105	971	34	2	2078	2	EMR2	19	14877820	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	136878	14877820	44251163	9585	14693										
OR7C1	26664	hgsc.bcm.edu	37	chr19	14910900	14910900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatctctgacgttgctgaaaAtcccaggaggagaaattctt	9	8	2	3	rs149561973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14910900A>T	ENST00000248073.2	-	1	123	c.49T>A	c.(49-51)Ttt>Att	p.F17I	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	17					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GTTGCTGAAAATCCCAGGAGG	0.438													.|||	27	0.00539137	0.0204	0.0	5008	,	,		18932	0.0		0.0	False		,,,				2504	0.0				p.F17I		Atlas-SNP	.											.	OR7C1	58	.	0			c.T49A						PASS	.	A	ILE/PHE	29,4371		0,29,2171	94	90	91		49	2.6	0.9	19	dbSNP_134	91	0,8592		0,0,4296	yes	missense	OR7C1	NM_198944.1	21	0,29,6467	TT,TA,AA		0.0,0.6591,0.2232	possibly-damaging	17/321	14910900	29,12963	2200	4296	6496	SO:0001583	missense	26664	exon1			CTGAAAATCCCAG	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.49T>A	19.37:g.14910900A>T	ENSP00000248073:p.Phe17Ile	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	31	0.508197	NM_198944	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	a	13.45	2.240147	0.39598	0.006591	0.0	ENSG00000127530	ENST00000248073	T	0.06608	3.28	3.67	2.6	0.31112	.	0.214512	0.23239	U	0.050361	T	0.01870	0.0059	L	0.50919	1.6	0.24836	N	0.992496	P	0.41748	0.761	B	0.37267	0.245	T	0.28170	-1.0052	10	0.54805	T	0.06	.	7.5523	0.27804	0.8084:0.0:0.0:0.1915	.	17	O76099	OR7C1_HUMAN	I	17	ENSP00000248073:F17I	ENSP00000248073:F17I	F	-	1	0	OR7C1	14771900	0.001000	0.12720	0.913000	0.36048	0.090000	0.18270	-0.216000	0.09266	0.552000	0.29026	0.433000	0.28618	TTT	A|0.994;T|0.006	0.006	strong		0.438	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			T	14910900	A	T	14910900	3	4	22	1	0	0	0	0	1	0	0	0	11217	101	4	5	915	5	OR7C1	19	14910900	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33080	14910900	44218083	9586	14694										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14951889	14951889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcagcacctgtgtgtgaAttgtgggtggcagcagaact	15	8	0	2	rs3752194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14951889A>G	ENST00000248058.1	-	1	800	c.801T>C	c.(799-801)aaT>aaC	p.N267N		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CTGTGTGTGAATTGTGGGTGG	0.473													.|||	508	0.101438	0.0893	0.1499	5008	,	,		20026	0.1438		0.0586	False		,,,				2504	0.0838				p.N267N		Atlas-SNP	.											.	OR7A10	33	.	0			c.T801C						PASS	.	A		298,4108	161.8+/-193.9	12,274,1917	98	90	93		801	-5.5	0	19	dbSNP_107	93	510,8090	145.6+/-201.3	17,476,3807	no	coding-synonymous	OR7A10	NM_001005190.1		29,750,5724	GG,GA,AA		5.9302,6.7635,6.2125		267/310	14951889	808,12198	2203	4300	6503	SO:0001819	synonymous_variant	390892	exon1			GTGTGAATTGTGG		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.801T>C	19.37:g.14951889A>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	91	35	0.384615	NM_001005190	Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	CCDS32936.1																																																																																			A|0.922;G|0.078	0.078	strong		0.473	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		G	14951889	A	G	14951889	2	3	22	1	0	0	0	0	0	0	0	1	11214	98	4	2		2	OR7A10	19	14951889	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40989	14951889	44177094	9587	14695										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14952017	14952017	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgatgagattgcacgtaTggaggaaactatcttagagt	12	5	1	3	rs11880955	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14952017T>A	ENST00000248058.1	-	1	672	c.673A>T	c.(673-675)Ata>Tta	p.I225L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	225			I -> L (in dbSNP:rs11880955).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTGCACGTATGGAGGAAACT	0.463													.|||	725	0.144768	0.2179	0.1297	5008	,	,		22434	0.0903		0.1551	False		,,,				2504	0.1022				p.I225L		Atlas-SNP	.											.	OR7A10	33	.	0			c.A673T						PASS	.	T	LEU/ILE	1043,3363	382.5+/-324.5	129,785,1289	75	67	70		673	2.8	0.8	19	dbSNP_120	70	1462,7138	278.3+/-293.3	141,1180,2979	no	missense	OR7A10	NM_001005190.1	5	270,1965,4268	AA,AT,TT		17.0,23.6723,19.2603	benign	225/310	14952017	2505,10501	2203	4300	6503	SO:0001583	missense	390892	exon1			CACGTATGGAGGA		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.673A>T	19.37:g.14952017T>A	ENSP00000248058:p.Ile225Leu	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001005190	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	301	0.13782051282051283	106	0.21544715447154472	52	0.143646408839779	27	0.0472027972027972	116	0.15303430079155672	t	9.153	1.016847	0.19355	0.236723	0.17	ENSG00000127515	ENST00000248058	T	0.00227	8.5	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.174607	0.25645	U	0.029254	T	0.00012	0.0000	M	0.84683	2.71	0.80722	P	0.0	B	0.33612	0.419	B	0.42738	0.396	T	0.11743	-1.0575	9	0.46703	T	0.11	.	9.0825	0.36561	0.0:0.0:0.0:1.0	rs11880955;rs41345444;rs11880955	225	O76100	OR7AA_HUMAN	L	225	ENSP00000248058:I225L	ENSP00000248058:I225L	I	-	1	0	OR7A10	14813017	0.000000	0.05858	0.843000	0.33291	0.558000	0.35554	-0.384000	0.07389	1.301000	0.44836	0.113000	0.15668	ATA	T|0.831;A|0.169	0.169	strong		0.463	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		A	14952017	T	A	14952017	3	1	22	1	0	0	0	0	1	0	0	0	11214	1464	51	5	260	5	OR7A10	19	14952017	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	128	14952017	44176966	9588	14696										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14952189	14952189	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttccatgtgtgtacaaaaGggcagtggcaacaccattaa	9	8	0	0	rs114596415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14952189G>T	ENST00000248058.1	-	1	500	c.501C>A	c.(499-501)ccC>ccA	p.P167P		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTGTACAAAAGGGCAGTGGCA	0.418													.|||	115	0.0229633	0.0832	0.0058	5008	,	,		22672	0.0		0.001	False		,,,				2504	0.0				p.P167P		Atlas-SNP	.											OR7A10,NS,carcinoma,-2,1	OR7A10	33	1	0			c.C501A						PASS	.	G		235,4171	137.7+/-173.5	8,219,1976	81	79	80		501	-4.2	0	19	dbSNP_132	80	1,8599		0,1,4299	no	coding-synonymous	OR7A10	NM_001005190.1		8,220,6275	TT,TG,GG		0.0116,5.3336,1.8145		167/310	14952189	236,12770	2203	4300	6503	SO:0001819	synonymous_variant	390892	exon1			ACAAAAGGGCAGT		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.501C>A	19.37:g.14952189G>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	152	74	0.486842	NM_001005190	Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	CCDS32936.1																																																																																			G|0.980;T|0.020	0.020	strong		0.418	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14952189	G	T	14952189	2	4	22	1	0	0	0	0	0	0	0	1	11214	987	35	4		4	OR7A10	19	14952189	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	172	14952189	44176794	9589	14697										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14952238	14952238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatggaattcagaacactcAtgatccaggatgccagaacc	8	11	2	3	rs12972670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14952238A>G	ENST00000248058.1	-	1	451	c.452T>C	c.(451-453)aTg>aCg	p.M151T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	151			M -> T (in dbSNP:rs12972670).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CAGAACACTCATGATCCAGGA	0.453													.|||	617	0.123203	0.1422	0.1196	5008	,	,		21909	0.0903		0.1541	False		,,,				2504	0.1022				p.M151T		Atlas-SNP	.											OR7A10,colon,carcinoma,0,1	OR7A10	33	1	0			c.T452C						PASS	.	A	THR/MET	678,3728	286.0+/-278.5	58,562,1583	74	71	72		452	2.8	0	19	dbSNP_121	72	1457,7143	278.6+/-293.5	139,1179,2982	yes	missense	OR7A10	NM_001005190.1	81	197,1741,4565	GG,GA,AA		16.9419,15.3881,16.4155	benign	151/310	14952238	2135,10871	2203	4300	6503	SO:0001583	missense	390892	exon1			ACACTCATGATCC		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.452T>C	19.37:g.14952238A>G	ENSP00000248058:p.Met151Thr	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	164	91	0.554878	NM_001005190	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	260	0.11904761904761904	69	0.1402439024390244	48	0.13259668508287292	27	0.0472027972027972	116	0.15303430079155672	a	0.596	-0.830989	0.02713	0.153881	0.169419	ENSG00000127515	ENST00000248058	T	0.00441	7.41	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.862066	0.09618	N	0.777980	T	0.00012	0.0000	N	0.21324	0.655	0.80722	P	0.0	B	0.10296	0.003	B	0.19666	0.026	T	0.19031	-1.0318	9	0.49607	T	0.09	.	9.0825	0.36561	1.0:0.0:0.0:0.0	rs12972670;rs16979967;rs58275244;rs12972670	151	O76100	OR7AA_HUMAN	T	151	ENSP00000248058:M151T	ENSP00000248058:M151T	M	-	2	0	OR7A10	14813238	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.724000	0.04947	1.301000	0.44836	0.113000	0.15668	ATG	A|0.860;G|0.140	0.140	strong		0.453	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		G	14952238	A	G	14952238	3	3	22	1	0	0	0	0	1	0	0	0	11214	217	8	2	481	2	OR7A10	19	14952238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49	14952238	44176745	9590	14698										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14952560	14952560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgtggccaggatgatgaGcaggttcccgagcacagtga	15	8	0	3	rs12985894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14952560G>T	ENST00000248058.1	-	1	129	c.130C>A	c.(130-132)Ctc>Atc	p.L44I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGATGATGAGCAGGTTCCCG	0.512													.|||	618	0.123403	0.143	0.1196	5008	,	,		18213	0.0903		0.1541	False		,,,				2504	0.1022				p.L44I		Atlas-SNP	.											.	OR7A10	33	.	0			c.C130A						PASS	.	G	ILE/LEU	675,3731	285.7+/-278.4	58,559,1586	70	66	67		130	2.8	1	19	dbSNP_121	67	1455,7139	277.4+/-292.8	140,1175,2982	no	missense	OR7A10	NM_001005190.1	5	198,1734,4568	TT,TG,GG		16.9304,15.32,16.3846	possibly-damaging	44/310	14952560	2130,10870	2203	4297	6500	SO:0001583	missense	390892	exon1			TGATGAGCAGGTT		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.130C>A	19.37:g.14952560G>T	ENSP00000248058:p.Leu44Ile	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	109	61	0.559633	NM_001005190	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	260	0.11904761904761904	69	0.1402439024390244	48	0.13259668508287292	27	0.0472027972027972	116	0.15303430079155672	g	9.293	1.051138	0.19827	0.1532	0.169304	ENSG00000127515	ENST00000248058	T	0.02606	4.23	2.79	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004236	T	0.00039	0.0001	L	0.60904	1.88	0.48452	P	3.4199999999995345E-4	P	0.46327	0.876	P	0.54238	0.746	T	0.25293	-1.0136	9	0.72032	D	0.01	.	7.1625	0.25672	0.0:0.0:0.7333:0.2667	rs12985894	44	O76100	OR7AA_HUMAN	I	44	ENSP00000248058:L44I	ENSP00000248058:L44I	L	-	1	0	OR7A10	14813560	0.000000	0.05858	1.000000	0.80357	0.286000	0.27126	-0.617000	0.05584	1.572000	0.49736	0.430000	0.28490	CTC	G|0.856;T|0.144	0.144	strong		0.512	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14952560	G	T	14952560	3	4	22	1	0	0	0	0	1	0	0	0	11214	971	34	4	803	4	OR7A10	19	14952560	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	322	14952560	44176423	9591	14699										
OR7A17	26333	hgsc.bcm.edu	37	chr19	14991643	14991643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaagttcacagaaaaagtgGgggatttccaagtctgtgca	11	6	2	1	rs10401818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:14991643G>A	ENST00000327462.2	-	1	621	c.525C>T	c.(523-525)ccC>ccT	p.P175P		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGAAAAAGTGGGGGATTTCCA	0.483													.|||	1390	0.277556	0.438	0.2349	5008	,	,		21572	0.2867		0.2356	False		,,,				2504	0.1247				p.P175P		Atlas-SNP	.											.	OR7A17	37	.	0			c.C525T						PASS	.	G		1723,2683	516.7+/-369.2	350,1023,830	91	86	88		525	-2.2	0.6	19	dbSNP_119	88	1945,6655	341.3+/-324.0	215,1515,2570	no	coding-synonymous	OR7A17	NM_030901.1		565,2538,3400	AA,AG,GG		22.6163,39.1058,28.2024		175/310	14991643	3668,9338	2203	4300	6503	SO:0001819	synonymous_variant	26333	exon1			AAAGTGGGGGATT	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.525C>T	19.37:g.14991643G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	162	162	1	NM_030901	Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	CCDS12319.1																																																																																			G|0.709;A|0.291	0.291	strong		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991643	G	A	14991643	2	1	22	1	0	0	0	0	0	0	0	1	11215	1219	43	2		2	OR7A17	19	14991643	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39083	14991643	44137340	9592	14700										
SLC1A6	6511	hgsc.bcm.edu	37	chr19	15063757	15063757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaggaaccagtccacggcAatgatgagcgtgatgtcttc	11	11	1	3	rs2229896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15063757A>G	ENST00000221742.3	-	8	1489	c.1482T>C	c.(1480-1482)atT>atC	p.I494I	SLC1A6_ENST00000430939.2_Silent_p.I430I|SLC1A6_ENST00000600144.1_Silent_p.I416I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	494					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AGTCCACGGCAATGATGAGCG	0.597													N|||	1265	0.252596	0.4236	0.2118	5008	,	,		14440	0.3244		0.1421	False		,,,				2504	0.09				p.I494I		Atlas-SNP	.											.	SLC1A6	111	.	0			c.T1482C						PASS	.	G		1658,2748		331,996,876	196	148	164		1482	-2.1	1	19	dbSNP_98	164	1024,7576		66,892,3342	no	coding-synonymous	SLC1A6	NM_005071.1		397,1888,4218	GG,GA,AA		11.907,37.6305,20.6213		494/565	15063757	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	6511	exon8			CACGGCAATGATG		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1482T>C	19.37:g.15063757A>G		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	292	143	0.489726	NM_005071	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																			T|0.131;G|0.183;C|0.054;A|0.632	0.183	strong		0.597	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		G	15063757	A	G	15063757	2	3	22	1	0	0	0	0	0	0	0	1	14436	126	5	2		2	SLC1A6	19	15063757	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	72114	15063757	44065226	9593	14701										
CCDC105	126402	hgsc.bcm.edu	37	chr19	15122104	15122104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggtgcgacagctgctgcGccagcgcgaggtcaccgacc	16	15	1	0	rs199904661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15122104G>T	ENST00000292574.3	+	1	549	c.467G>T	c.(466-468)cGc>cTc	p.R156L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	156						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCTGCTGCGCCAGCGCGAG	0.692													G|||	66	0.0131789	0.0469	0.0058	5008	,	,		14563	0.0		0.0	False		,,,				2504	0.0				p.R156L		Atlas-SNP	.											.	CCDC105	53	.	0			c.G467T						PASS	.	G	LEU/ARG	163,3785		3,157,1814	7	8	7		467	2.8	1	19	dbSNP_134	7	3,8257		0,3,4127	yes	missense	CCDC105	NM_173482.2	102	3,160,5941	TT,TG,GG		0.0363,4.1287,1.3598	probably-damaging	156/500	15122104	166,12042	1974	4130	6104	SO:0001583	missense	126402	exon1			TGCTGCGCCAGCG	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.467G>T	19.37:g.15122104G>T	ENSP00000292574:p.Arg156Leu	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	30	0.681818	NM_173482	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	G	17.67	3.446054	0.63178	0.041287	3.63E-4	ENSG00000160994	ENST00000292574	T	0.02579	4.24	3.82	2.78	0.32641	.	0.117336	0.34603	N	0.003821	T	0.01765	0.0056	M	0.67953	2.075	0.25682	N	0.985784	D	0.69078	0.997	D	0.63957	0.92	T	0.05517	-1.0880	10	0.49607	T	0.09	-17.7965	6.322	0.21223	0.1376:0.0:0.8624:0.0	.	156	Q8IYK2	CC105_HUMAN	L	156	ENSP00000292574:R156L	ENSP00000292574:R156L	R	+	2	0	CCDC105	14983104	0.402000	0.25311	0.998000	0.56505	0.645000	0.38454	1.363000	0.34159	1.678000	0.50952	0.462000	0.41574	CGC	G|0.993;T|0.007	0.007	strong		0.692	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		T	15122104	G	T	15122104	3	4	22	1	0	0	0	0	1	0	0	0	2740	1087	38	4	469	4	CCDC105	19	15122104	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58347	15122104	44006879	9594	14702										
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133762	15133762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccacgcacaagaacctcaGctggggcctcaactgcaaga	10	15	2	2	rs8111625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15133762G>C	ENST00000292574.3	+	7	1413	c.1331G>C	c.(1330-1332)aGc>aCc	p.S444T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	444			S -> T (in dbSNP:rs8111625). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGAACCTCAGCTGGGGCCTC	0.637													c|||	4306	0.859824	0.9501	0.8545	5008	,	,		16246	0.9077		0.8091	False		,,,				2504	0.7444				p.S444T		Atlas-SNP	.											.	CCDC105	53	.	0			c.G1331C						PASS	.		THR/SER	4049,355	172.3+/-202.3	1872,305,25	53	39	43		1331	0.8	0	19	dbSNP_116	43	7084,1516	272.4+/-290.1	2932,1220,148	yes	missense	CCDC105	NM_173482.2	58	4804,1525,173	CC,CG,GG		17.6279,8.0609,14.3879	benign	444/500	15133762	11133,1871	2202	4300	6502	SO:0001583	missense	126402	exon7			ACCTCAGCTGGGG	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1331G>C	19.37:g.15133762G>C	ENSP00000292574:p.Ser444Thr	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	180	78	0.433333	NM_173482	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	1909	0.8740842490842491	472	0.959349593495935	316	0.8729281767955801	514	0.8986013986013986	607	0.8007915567282322	c	0.281	-0.986297	0.02180	0.919391	0.823721	ENSG00000160994	ENST00000292574	T	0.02421	4.3	4.12	0.78	0.18556	.	1.370820	0.04721	N	0.419319	T	0.00012	0.0000	N	0.00197	-1.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.12766	T	0.61	-0.0194	3.9165	0.09225	0.0:0.5107:0.1793:0.31	rs8111625;rs17855586;rs8111625	444	Q8IYK2	CC105_HUMAN	T	444	ENSP00000292574:S444T	ENSP00000292574:S444T	S	+	2	0	CCDC105	14994762	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.122000	0.15687	-0.064000	0.13043	-0.345000	0.07892	AGC	G|0.132;C|0.868	0.868	strong		0.637	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		C	15133762	G	C	15133762	3	2	22	1	0	0	0	0	1	0	0	0	2740	971	34	4	1357	4	CCDC105	19	15133762	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11658	15133762	43995221	9595	14703										
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133787	15133787	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctcaactgcaagaacatCgggcatgaggtggacggcaa	14	10	1	2	rs10424547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15133787C>A	ENST00000292574.3	+	7	1438	c.1356C>A	c.(1354-1356)atC>atA	p.I452I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	452						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCAAGAACATCGGGCATGAGG	0.637													c|||	1610	0.321486	0.1203	0.4323	5008	,	,		15747	0.5208		0.2346	False		,,,				2504	0.3988				p.I452I		Atlas-SNP	.											.	CCDC105	53	.	0			c.C1356A						PASS	.			739,3667	291.5+/-281.6	62,615,1526	55	40	45		1356	-6.5	0	19	dbSNP_119	45	2035,6563	339.6+/-323.3	227,1581,2491	no	coding-synonymous	CCDC105	NM_173482.2		289,2196,4017	AA,AC,CC		23.6683,16.7726,21.3319		452/500	15133787	2774,10230	2203	4299	6502	SO:0001819	synonymous_variant	126402	exon7			GAACATCGGGCAT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1356C>A	19.37:g.15133787C>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	167	70	0.419162	NM_173482	Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	CCDS12322.1																																																																																			C|0.749;A|0.251	0.251	strong		0.637	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133787	C	A	15133787	2	1	22	1	0	0	0	0	0	0	0	1	2740	874	31	4		4	CCDC105	19	15133787	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25	15133787	43995196	9596	14704										
NOTCH3	4854	hgsc.bcm.edu	37	chr19	15276739	15276739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taacgggcagccaggtgcaaAgcagtctcgccagtacggtc	13	12	1	0	rs16980398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15276739A>G	ENST00000263388.2	-	30	5601	c.5526T>C	c.(5524-5526)gcT>gcC	p.A1842A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1842					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAGGTGCAAAGCAGTCTCGC	0.622													A|||	610	0.121805	0.4259	0.0346	5008	,	,		16284	0.0		0.007	False		,,,				2504	0.0164				p.A1842A		Atlas-SNP	.											.	NOTCH3	340	.	0			c.T5526C						PASS	.	A		1618,2788	497.7+/-363.9	310,998,895	72	56	61		5526	0.8	1	19	dbSNP_123	61	74,8526	40.8+/-97.7	0,74,4226	no	coding-synonymous	NOTCH3	NM_000435.2		310,1072,5121	GG,GA,AA		0.8605,36.7227,13.0094		1842/2322	15276739	1692,11314	2203	4300	6503	SO:0001819	synonymous_variant	4854	exon30			GTGCAAAGCAGTC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5526T>C	19.37:g.15276739A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	105	62	0.590476	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			A|0.883;G|0.117	0.117	strong		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15276739	A	G	15276739	2	3	22	1	0	0	0	0	0	0	0	1	10550	59	3	3		3	NOTCH3	19	15276739	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	142952	15276739	43852244	9597	14705										
NOTCH3	4854	hgsc.bcm.edu	37	chr19	15290007	15290007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaccacccaccaggtccaCgcaggtgccattgtgtaggc	11	14	0	0	rs10408676	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15290007C>T	ENST00000263388.2	-	22	3622	c.3547G>A	c.(3547-3549)Gtg>Atg	p.V1183M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1183	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		V -> M (in dbSNP:rs10408676). {ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACCAGGTCCACGCAGGTGCCA	0.632													C|||	423	0.0844649	0.289	0.0259	5008	,	,		18528	0.0		0.007	False		,,,				2504	0.0164				p.V1183M		Atlas-SNP	.											.	NOTCH3	340	.	0			c.G3547A						PASS	.	C	MET/VAL	1066,3340	371.5+/-320.0	150,766,1287	35	40	38		3547	3.9	1	19	dbSNP_119	38	67,8533	38.3+/-94.2	0,67,4233	yes	missense	NOTCH3	NM_000435.2	21	150,833,5520	TT,TC,CC		0.7791,24.1943,8.7114	possibly-damaging	1183/2322	15290007	1133,11873	2203	4300	6503	SO:0001583	missense	4854	exon22			GGTCCACGCAGGT	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3547G>A	19.37:g.15290007C>T	ENSP00000263388:p.Val1183Met	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	145	0.06639194139194139	125	0.2540650406504065	14	0.03867403314917127	0	0.0	6	0.0079155672823219	C	19.66	3.868866	0.72065	0.241943	0.007791	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95103	-3.61	3.9	3.9	0.45041	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00356	0.0011	M	0.80183	2.485	0.21445	P	0.999688477	D;P	0.58620	0.983;0.698	P;B	0.54629	0.757;0.384	T	0.00000	-1.3391	8	0.56958	D	0.05	.	8.7049	0.34349	0.0:0.8903:0.0:0.1097	rs10408676;rs60652871;rs10408676	1134;1183	Q59FL3;Q9UM47	.;NOTC3_HUMAN	M	1183;1133	ENSP00000263388:V1183M	ENSP00000263388:V1183M	V	-	1	0	NOTCH3	15151007	0.965000	0.33210	0.992000	0.48379	0.925000	0.55904	2.324000	0.43831	1.720000	0.51447	0.561000	0.74099	GTG	C|0.924;T|0.076	0.076	strong		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15290007	C	T	15290007	3	4	22	1	0	0	0	0	1	0	0	0	10550	536	19	1	3466	1	NOTCH3	19	15290007	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13268	15290007	43838976	9598	14706										
NOTCH3	4854	hgsc.bcm.edu	37	chr19	15291576	15291576	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggggacaaaggcaataggCcccagtctggacgcagcgac	15	11	1	0	rs35769976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15291576C>G	ENST00000263388.2	-	19	3133	c.3058G>C	c.(3058-3060)Gcc>Ccc	p.A1020P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1020	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.		A -> P (in dbSNP:rs35769976).		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGCAATAGGCCCCAGTCTGG	0.632													C|||	552	0.110224	0.3669	0.0375	5008	,	,		17984	0.001		0.0129	False		,,,				2504	0.0276				p.A1020P		Atlas-SNP	.											.	NOTCH3	340	.	0			c.G3058C	GRCh37	CM085589	NOTCH3	M	rs35769976	PASS	.	C	PRO/ALA	1294,3106		226,842,1132	39	35	37	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3058	1.4	0	19	dbSNP_126	37	122,8478		0,122,4178	yes	missense	NOTCH3	NM_000435.2	27	226,964,5310	GG,GC,CC		1.4186,29.4091,10.8923	benign	1020/2322	15291576	1416,11584	2200	4300	6500	SO:0001583	missense	4854	exon19			AATAGGCCCCAGT	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3058G>C	19.37:g.15291576C>G	ENSP00000263388:p.Ala1020Pro	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	93	48	0.516129	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	183	0.08379120879120878	149	0.30284552845528456	22	0.06077348066298342	0	0.0	12	0.0158311345646438	C	9.463	1.093538	0.20471	0.294091	0.014186	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91792	-2.91	5.13	1.44	0.22558	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32190	N	0.006458	T	0.00012	0.0000	N	0.26130	0.795	0.43965	P	0.003354999999999997	B;B	0.21309	0.054;0.027	B;B	0.28638	0.092;0.075	T	0.04128	-1.0975	9	0.37606	T	0.19	.	7.3526	0.26700	0.0:0.6162:0.1375:0.2462	rs35769976;rs60155197	971;1020	Q59FL3;Q9UM47	.;NOTC3_HUMAN	P	1020;970	ENSP00000263388:A1020P	ENSP00000263388:A1020P	A	-	1	0	NOTCH3	15152576	0.000000	0.05858	0.018000	0.16275	0.401000	0.30781	-1.039000	0.03550	0.569000	0.29329	0.563000	0.77884	GCC	C|0.886;G|0.114	0.114	strong		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15291576	C	G	15291576	3	3	22	1	0	0	0	0	1	0	0	0	10550	739	26	4	3967	4	NOTCH3	19	15291576	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1569	15291576	43837407	9599	14707										
BRD4	23476	hgsc.bcm.edu	37	chr19	15355540	15355540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcttctgctccctcccgGggtgccccttcttttttgac	7	17	3	1	rs149185763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15355540G>A	ENST00000263377.2	-	12	2413	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	731					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTCCCTCCCGGGGTGCCCCTT	0.582			T	C15orf55	lethal midline carcinoma of young people								G|||	13	0.00259585	0.0098	0.0	5008	,	,		13894	0.0		0.0	False		,,,				2504	0.0				p.P731L		Atlas-SNP	.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4	172	.	0			c.C2192T						PASS	.	G	LEU/PRO	16,4390	23.3+/-48.9	0,16,2187	144	141	142		2192	3.4	0.8	19	dbSNP_134	142	0,8600		0,0,4300	yes	missense	BRD4	NM_058243.2	98	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	probably-damaging	731/1363	15355540	16,12990	2203	4300	6503	SO:0001583	missense	23476	exon12			CTCCCGGGGTGCC	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2192C>T	19.37:g.15355540G>A	ENSP00000263377:p.Pro731Leu	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	142	71	0.5	NM_058243	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.84	2.654846	0.47467	0.003631	0.0	ENSG00000141867	ENST00000263377	T	0.07216	3.21	4.48	3.43	0.39272	.	1.004540	0.08020	N	0.991771	T	0.08980	0.0222	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07751	-1.0756	10	0.42905	T	0.14	-1.3945	10.1453	0.42760	0.1003:0.0:0.8997:0.0	.	731	O60885	BRD4_HUMAN	L	731	ENSP00000263377:P731L	ENSP00000263377:P731L	P	-	2	0	BRD4	15216540	1.000000	0.71417	0.803000	0.32268	0.934000	0.57294	6.710000	0.74670	0.868000	0.35678	0.561000	0.74099	CCC	A|0.001;G|0.999	0.001	strong		0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15355540	G	A	15355540	3	1	22	1	0	0	0	0	1	0	0	0	1504	1232	43	2	1932	2	BRD4	19	15355540	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63964	15355540	43773443	9600	14708										
AKAP8L	26993	hgsc.bcm.edu	37	chr19	15512393	15512393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaggacggccctcgagtcGcaggactcataagagtcata	11	12	3	1	rs61739315	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15512393G>A	ENST00000397410.5	-	5	514	c.384C>T	c.(382-384)tgC>tgT	p.C128C	AKAP8L_ENST00000595465.2_Silent_p.C67C|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	128						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCGAGTCGCAGGACTCAT	0.597													G|||	43	0.00858626	0.0295	0.0058	5008	,	,		17723	0.0		0.0	False		,,,				2504	0.0				p.C128C		Atlas-SNP	.											.	AKAP8L	64	.	0			c.C384T						PASS	.	G		118,4112		2,114,1999	29	28	29		384	2.4	1	19	dbSNP_129	29	2,8440		0,2,4219	no	coding-synonymous	AKAP8L	NM_014371.2		2,116,6218	AA,AG,GG		0.0237,2.7896,0.947		128/647	15512393	120,12552	2115	4221	6336	SO:0001819	synonymous_variant	26993	exon5			CGAGTCGCAGGAC	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.384C>T	19.37:g.15512393G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	19	0.395833	NM_014371	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	CCDS46005.1																																																																																			G|0.991;A|0.009	0.009	strong		0.597	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		A	15512393	G	A	15512393	2	1	22	1	0	0	0	0	0	0	0	1	458	1079	38	1		1	AKAP8L	19	15512393	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	156853	15512393	43616590	9601	14709										
RASAL3	64926	hgsc.bcm.edu	37	chr19	15569378	15569378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccaggaggctggggtgcaGtggccagatccgcacatccc	14	15	0	1	rs58123634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15569378G>C	ENST00000343625.7	-	7	836	c.751C>G	c.(751-753)Ctg>Gtg	p.L251V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	251	PH.		L -> V (in dbSNP:rs58123634).		negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGGGGTGCAGTGGCCAGATC	0.642													G|||	194	0.038738	0.0522	0.0231	5008	,	,		11687	0.005		0.0447	False		,,,				2504	0.0603				p.L251V		Atlas-SNP	.											.	RASAL3	49	.	0			c.C751G						PASS	.	G	VAL/LEU	213,3981		2,209,1886	40	45	44		751	3.4	1	19	dbSNP_129	44	409,8041		12,385,3828	yes	missense	RASAL3	NM_022904.1	32	14,594,5714	CC,CG,GG		4.8402,5.0787,4.9193	benign	251/1012	15569378	622,12022	2097	4225	6322	SO:0001583	missense	64926	exon7			GGTGCAGTGGCCA		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.751C>G	19.37:g.15569378G>C	ENSP00000341905:p.Leu251Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	144	65	0.451389	NM_022904	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	64	0.029304029304029304	21	0.042682926829268296	7	0.019337016574585635	1	0.0017482517482517483	35	0.04617414248021108	G	10.35	1.325523	0.24080	0.050787	0.048402	ENSG00000105122	ENST00000343625	D	0.93366	-3.21	4.47	3.42	0.39159	Pleckstrin homology domain (1);	0.000000	0.26948	U	0.021700	T	0.49236	0.1545	N	0.11106	0.095	0.32241	N	0.572703	P	0.38473	0.633	B	0.36845	0.234	T	0.73375	-0.4002	10	0.07990	T	0.79	.	10.2251	0.43220	0.1003:0.0:0.8997:0.0	rs58123634	251	Q86YV0	RASL3_HUMAN	V	251	ENSP00000341905:L251V	ENSP00000341905:L251V	L	-	1	2	RASAL3	15430378	0.006000	0.16342	0.969000	0.41365	0.571000	0.35966	0.013000	0.13310	0.874000	0.35823	0.491000	0.48974	CTG	G|0.967;C|0.033	0.033	strong		0.642	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		C	15569378	G	C	15569378	3	2	22	1	0	0	0	0	1	0	0	0	13065	1020	36	4	2332	4	RASAL3	19	15569378	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56985	15569378	43559605	9602	14710										
PGLYRP2	114770	hgsc.bcm.edu	37	chr19	15580694	15580694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgtgggcgcccacccagtGccagccgcgtccctcgtaca	12	18	0	0	rs61734899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15580694G>A	ENST00000340880.4	-	4	1870	c.1390C>T	c.(1390-1392)Cac>Tac	p.H464Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.H464Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	464					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCACCCAGTGCCAGCCGCGT	0.716													G|||	124	0.0247604	0.0484	0.0058	5008	,	,		13687	0.006		0.008	False		,,,				2504	0.0429				p.H464Y		Atlas-SNP	.											.	PGLYRP2	116	.	0			c.C1390T						PASS	.	G	TYR/HIS	161,4189		2,157,2016	11	15	14		1390	2.9	1	19	dbSNP_129	14	65,8451		0,65,4193	yes	missense	PGLYRP2	NM_052890.3	83	2,222,6209	AA,AG,GG		0.7633,3.7011,1.7566	benign	464/577	15580694	226,12640	2175	4258	6433	SO:0001583	missense	114770	exon4			CCCAGTGCCAGCC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1390C>T	19.37:g.15580694G>A	ENSP00000345968:p.His464Tyr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	61	24	0.393443	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	34	0.015567765567765568	21	0.042682926829268296	3	0.008287292817679558	2	0.0034965034965034965	8	0.010554089709762533	G	12.80	2.046263	0.36085	0.037011	0.007633	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.17213	2.29;2.29	5.04	2.91	0.33838	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.380248	0.27554	N	0.018848	T	0.03564	0.0102	M	0.66378	2.025	0.35512	D	0.80071	B;B	0.09022	0.001;0.002	B;B	0.13407	0.008;0.009	T	0.08249	-1.0731	10	0.35671	T	0.21	-13.9263	4.8686	0.13620	0.1811:0.0:0.6507:0.1682	.	464;464	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	464	ENSP00000345968:H464Y;ENSP00000292609:H464Y	ENSP00000292609:H464Y	H	-	1	0	PGLYRP2	15441694	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.700000	0.25601	0.540000	0.28808	-0.448000	0.05591	CAC	G|0.983;A|0.017	0.017	strong		0.716	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15580694	G	A	15580694	3	1	22	1	0	0	0	0	1	0	0	0	11794	1319	46	2	348	2	PGLYRP2	19	15580694	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11316	15580694	43548289	9603	14711										
PGLYRP2	114770	hgsc.bcm.edu	37	chr19	15587067	15587067	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgtccaagggcaaattTatgaccctgcgcccttgcag	10	12	0	1	rs35927052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15587067T>A	ENST00000340880.4	-	2	894	c.414A>T	c.(412-414)atA>atT	p.I138I	PGLYRP2_ENST00000292609.4_Silent_p.I138I	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	138					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGGGCAAATTTATGACCCTGC	0.607													T|||	123	0.0245607	0.0477	0.0058	5008	,	,		18627	0.006		0.008	False		,,,				2504	0.0429				p.I138I		Atlas-SNP	.											.	PGLYRP2	116	.	0			c.A414T						PASS	.	T		193,4213	121.7+/-159.2	3,187,2013	85	77	79		414	-9.2	0	19	dbSNP_126	79	75,8525	44.9+/-103.4	0,75,4225	no	coding-synonymous	PGLYRP2	NM_052890.3		3,262,6238	AA,AT,TT		0.8721,4.3804,2.0606		138/577	15587067	268,12738	2203	4300	6503	SO:0001819	synonymous_variant	114770	exon2			CAAATTTATGACC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.414A>T	19.37:g.15587067T>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	109	59	0.541284	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																			T|0.981;A|0.019	0.019	strong		0.607	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15587067	T	A	15587067	2	1	22	1	0	0	0	0	0	0	0	1	11794	1744	61	5		5	PGLYRP2	19	15587067	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6373	15587067	43541916	9604	14712										
PGLYRP2	114770	hgsc.bcm.edu	37	chr19	15587103	15587103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagccctgcctccagcccCgccagcagaggctccacagc	10	20	0	1	rs35973013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15587103C>T	ENST00000340880.4	-	2	858	c.378G>A	c.(376-378)gcG>gcA	p.A126A	PGLYRP2_ENST00000292609.4_Silent_p.A126A	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	126					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTCCAGCCCCGCCAGCAGAG	0.607													C|||	123	0.0245607	0.0477	0.0058	5008	,	,		19723	0.006		0.008	False		,,,				2504	0.0429				p.A126A		Atlas-SNP	.											.	PGLYRP2	116	.	0			c.G378A						PASS	.	C		193,4213	120.4+/-158.0	3,187,2013	100	86	91		378	-10.3	0.1	19	dbSNP_126	91	75,8525	44.0+/-102.2	0,75,4225	no	coding-synonymous	PGLYRP2	NM_052890.3		3,262,6238	TT,TC,CC		0.8721,4.3804,2.0606		126/577	15587103	268,12738	2203	4300	6503	SO:0001819	synonymous_variant	114770	exon2			CAGCCCCGCCAGC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.378G>A	19.37:g.15587103C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	136	76	0.558824	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																			C|0.981;T|0.019	0.019	strong		0.607	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15587103	C	T	15587103	2	4	22	1	0	0	0	0	0	0	0	1	11794	639	23	1		1	PGLYRP2	19	15587103	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36	15587103	43541880	9605	14713										
CYP4F3	4051	hgsc.bcm.edu	37	chr19	15763721	15763721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcgctgtcggcaggaggtGcaagagcttctgaaggaccg	17	9	1	2	rs1805042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15763721G>A	ENST00000221307.8	+	9	1121	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V	CYP4F3_ENST00000586182.2_Silent_p.V358V|CYP4F3_ENST00000585846.1_Silent_p.V358V|CYP4F3_ENST00000591058.1_Silent_p.V358V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	358					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.V358V(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCAGGAGGTGCAAGAGCTTC	0.597													.|||	2580	0.515176	0.643	0.5663	5008	,	,		18400	0.6577		0.3509	False		,,,				2504	0.3282				p.V358V		Atlas-SNP	.											CYP4F3,NS,carcinoma,0,1	CYP4F3	69	1	1	Substitution - coding silent(1)	stomach(1)	c.G1074A						PASS	.	G	,,	2626,1780		800,1026,377	110	90	97		1074,1074,1074	0.2	0.6	19	dbSNP_111	97	3046,5554		551,1944,1805	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	,,	1351,2970,2182	AA,AG,GG		35.4186,40.3995,43.6106	,,	358/521,358/521,358/521	15763721	5672,7334	2203	4300	6503	SO:0001819	synonymous_variant	4051	exon9			GGAGGTGCAAGAG	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1074G>A	19.37:g.15763721G>A		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	192	79	0.411458	NM_001199209	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																			G|0.523;A|0.477	0.477	strong		0.597	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15763721	G	A	15763721	2	1	22	1	0	0	0	0	0	0	0	1	4190	1306	46	2		2	CYP4F3	19	15763721	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	176618	15763721	43365262	9606	14714										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15784377	15784377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctggctgggcctcagacCggtggcaacgtccccatggc	14	16	1	1	rs16995376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15784377C>T	ENST00000550308.1	+	2	418	c.38C>T	c.(37-39)cCg>cTg	p.P13L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P13L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	13			P -> L (in dbSNP:rs16995376). {ECO:0000269|PubMed:11162645}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGCCTCAGACCGGTGGCAACG	0.647													.|||	1030	0.205671	0.3139	0.2161	5008	,	,		6485	0.0109		0.2584	False		,,,				2504	0.1984				p.P13L		Atlas-SNP	.											.	CYP4F12	89	.	0			c.C38T						PASS	.	A	LEU/PRO	1513,2883		226,1061,911	57	62	60		38	-4.9	0	19	dbSNP_123	60	2065,6533		282,1501,2516	yes	missense	CYP4F12	NM_023944.3	98	508,2562,3427	TT,TC,CC		24.0172,34.4177,27.5358	benign	13/525	15784377	3578,9416	2198	4299	6497	SO:0001583	missense	66002	exon2			TCAGACCGGTGGC	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.38C>T	19.37:g.15784377C>T	ENSP00000448998:p.Pro13Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	207	73	0.352657	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	477	0.2184065934065934	164	0.3333333333333333	95	0.26243093922651933	11	0.019230769230769232	207	0.27308707124010556	.	6.370	0.436299	0.12104	0.344177	0.240172	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.92048	-2.96;-2.96	2.46	-4.92	0.03075	.	1.096560	0.07077	U	0.836348	T	0.00012	0.0000	L	0.56769	1.78	0.80722	P	0.0	B;B;B	0.31256	0.316;0.05;0.028	B;B;B	0.26969	0.075;0.021;0.014	T	0.08166	-1.0735	9	0.27785	T	0.31	.	3.7556	0.08584	0.3401:0.2669:0.0:0.393	rs16995376;rs16995376	13;13;13	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	L	13	ENSP00000448998:P13L;ENSP00000321821:P13L	ENSP00000321821:P13L	P	+	2	0	CYP4F12	15645377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.371000	0.00244	-2.258000	0.00694	-1.284000	0.01376	CCG	C|0.775;T|0.225	0.225	strong		0.647	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15784377	C	T	15784377	3	4	22	1	0	0	0	0	1	0	0	0	4187	652	23	1	40	1	CYP4F12	19	15784377	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20656	15784377	43344606	9607	14715										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15791066	15791066	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgtcagctgccattgcacCcaaggataatctcttcatca					rs61731193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15791066C>T	ENST00000550308.1	+	4	736	c.356C>T	c.(355-357)cCc>cTc	p.P119L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P119L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	119					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCCATTGCACCCAAGGATAAT	0.567													.|||	103	0.0205671	0.0734	0.0072	5008	,	,		20736	0.0		0.001	False		,,,				2504	0.0				p.P119L		Atlas-SNP	.											.	CYP4F12	89	.	0			c.C356T						PASS	.	T	LEU/PRO	247,4133		2,243,1945	143	146	145		356	-1.3	0	19	dbSNP_129	145	3,8579		0,3,4288	yes	missense	CYP4F12	NM_023944.3	98	2,246,6233	TT,TC,CC		0.035,5.6393,1.9287	possibly-damaging	119/525	15791066	250,12712	2190	4291	6481	SO:0001583	missense	66002	exon4			TTGCACCCAAGGA	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.356C>T	19.37:g.15791066C>T	ENSP00000448998:p.Pro119Leu	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	355	89	0.250704	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	40	0.018315018315018316	37	0.07520325203252033	3	0.008287292817679558	0	0.0	0	0.0	.	7.772	0.707735	0.15239	0.056393	3.5E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69175	-0.38;-0.38	2.36	-1.32	0.09201	.	0.825497	0.10255	N	0.696720	T	0.07863	0.0197	L	0.59912	1.85	0.09310	N	1	B;B;B	0.26512	0.151;0.046;0.014	B;B;B	0.36766	0.232;0.168;0.098	T	0.46857	-0.9161	10	0.52906	T	0.07	.	5.4101	0.16344	0.0:0.5515:0.0:0.4485	rs61731193	119;119;119	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	L	119	ENSP00000448998:P119L;ENSP00000321821:P119L	ENSP00000321821:P119L	P	+	2	0	CYP4F12	15652066	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.870000	0.04228	-0.186000	0.10533	-1.139000	0.01908	CCC	C|0.988;T|0.012	0.012	strong		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15791066	C	T	15791066	3	4	22	1	0	0	0	0	1	0	0	0	4187	623	22	2	366	2	CYP4F12	19	15791066	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6689	15791066	43337917	9608	14716	302	3								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15791074	15791074	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccattgcacccaaggatAatctcttcatcaggttcctg					rs114254919	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15791074A>G	ENST00000550308.1	+	4	744	c.364A>G	c.(364-366)Aat>Gat	p.N122D	CYP4F12_ENST00000324632.10_Missense_Mutation_p.N122D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	122					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACCCAAGGATAATCTCTTCAT	0.567													.|||	103	0.0205671	0.0734	0.0072	5008	,	,		20731	0.0		0.001	False		,,,				2504	0.0				p.N122D		Atlas-SNP	.											CYP4F12,colon,carcinoma,-1,1	CYP4F12	89	1	0			c.A364G						PASS	.	G	ASP/ASN	190,4188		1,188,2000	139	143	142		364	-5.8	0	19	dbSNP_132	142	3,8585		0,3,4291	yes	missense	CYP4F12	NM_023944.3	23	1,191,6291	GG,GA,AA		0.0349,4.3399,1.4885	benign	122/525	15791074	193,12773	2189	4294	6483	SO:0001583	missense	66002	exon4			AAGGATAATCTCT	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.364A>G	19.37:g.15791074A>G	ENSP00000448998:p.Asn122Asp	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	372	95	0.255376	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	38	0.0173992673992674	35	0.07113821138211382	3	0.008287292817679558	0	0.0	0	0.0	.	1.398	-0.578943	0.03854	0.043399	3.49E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.78707	-1.2;-1.2	2.92	-5.84	0.02318	.	1.494030	0.04917	N	0.454288	T	0.07458	0.0188	N	0.16567	0.415	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.22836	-1.0205	10	0.11794	T	0.64	.	1.4308	0.02333	0.4684:0.1455:0.2397:0.1465	.	122;122;122	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	D	122	ENSP00000448998:N122D;ENSP00000321821:N122D	ENSP00000321821:N122D	N	+	1	0	CYP4F12	15652074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.894000	0.00707	-2.136000	0.00810	-1.140000	0.01884	AAT	A|0.989;G|0.011	0.011	strong		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15791074	A	G	15791074	3	3	22	1	0	0	0	0	1	0	0	0	4187	362	13	2	374	2	CYP4F12	19	15791074	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	15791074	43337909	9609	14717	302	3								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15791081	15791081	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacccaaggataatctctTcatcaggttcctgaagccct					rs146740964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15791081T>C	ENST00000550308.1	+	4	751	c.371T>C	c.(370-372)tTc>tCc	p.F124S	CYP4F12_ENST00000324632.10_Missense_Mutation_p.F124S	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	124					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GATAATCTCTTCATCAGGTTC	0.572													.|||	103	0.0205671	0.0734	0.0072	5008	,	,		20653	0.0		0.001	False		,,,				2504	0.0				p.F124S		Atlas-SNP	.											.	CYP4F12	89	.	0			c.T371C						PASS	.	C	SER/PHE	125,4253		1,123,2065	133	138	136		371	-1	0	19	dbSNP_134	136	2,8586		0,2,4292	yes	missense	CYP4F12	NM_023944.3	155	1,125,6357	CC,CT,TT		0.0233,2.8552,0.9795	benign	124/525	15791081	127,12839	2189	4294	6483	SO:0001583	missense	66002	exon4			ATCTCTTCATCAG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.371T>C	19.37:g.15791081T>C	ENSP00000448998:p.Phe124Ser	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	374	93	0.248663	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	37	0.01694139194139194	34	0.06910569105691057	3	0.008287292817679558	0	0.0	0	0.0	.	3.728	-0.056179	0.07362	0.028552	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70516	-0.49;-0.49	2.92	-1.0	0.10196	.	0.280349	0.26467	N	0.024209	T	0.08133	0.0203	N	0.17872	0.535	0.09310	N	1	B;P;B	0.34522	0.432;0.455;0.004	B;P;B	0.44811	0.344;0.461;0.091	T	0.20140	-1.0284	10	0.30078	T	0.28	.	4.0942	0.09983	0.1789:0.1265:0.0:0.6945	.	124;124;124	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	S	124	ENSP00000448998:F124S;ENSP00000321821:F124S	ENSP00000321821:F124S	F	+	2	0	CYP4F12	15652081	0.049000	0.20398	0.004000	0.12327	0.000000	0.00434	0.065000	0.14466	-0.503000	0.06586	-3.688000	0.00024	TTC	T|0.989;C|0.011	0.011	strong		0.572	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15791081	T	C	15791081	3	2	22	1	0	0	0	0	1	0	0	0	4187	1783	62	2	381	2	CYP4F12	19	15791081	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7	15791081	43337902	9610	14718	302	3								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15791212	15791212	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctactaggagaagggatActgctgagtggcggtgacaa	15	8	0	3	rs386807228|rs142773675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15791212A>C	ENST00000550308.1	+	5	788	c.408A>C	c.(406-408)atA>atC	p.I136I	CYP4F12_ENST00000324632.10_Silent_p.I136I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	136					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GAGAAGGGATACTGCTGAGTG	0.567													.|||	100	0.0199681	0.0711	0.0072	5008	,	,		19609	0.0		0.001	False		,,,				2504	0.0				p.I136I		Atlas-SNP	.											.	CYP4F12	89	.	0			c.A408C						PASS	.						30	35	33					19																	15791212		2202	4298	6500	SO:0001819	synonymous_variant	66002	exon5			AGGGATACTGCTG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.408A>C	19.37:g.15791212A>C		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	258	48	0.186047	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			A|0.969;C|0.031	0.031	strong		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15791212	A	C	15791212	2	2	22	1	0	0	0	0	0	0	0	1	4187	381	14	5		5	CYP4F12	19	15791212	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	131	15791212	43337771	9611	14719										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15793238	15793238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcagagggcagcagttgtCtggacatgtttgagcacatc	12	10	2	2	rs144258147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15793238C>T	ENST00000550308.1	+	6	945	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	CYP4F12_ENST00000324632.10_Silent_p.L189L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	189					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.L189V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CAGCAGTTGTCTGGACATGTT	0.557													.|||	31	0.0061901	0.0227	0.0	5008	,	,		20398	0.0		0.001	False		,,,				2504	0.0				p.L189L		Atlas-SNP	.											.	CYP4F12	89	.	1	Substitution - Missense(1)	urinary_tract(1)	c.C565T						PASS	.						81	78	79					19																	15793238		2203	4300	6503	SO:0001819	synonymous_variant	66002	exon6			AGTTGTCTGGACA	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.565C>T	19.37:g.15793238C>T		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	342	74	0.216374	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			C|0.990;T|0.010	0.010	strong		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15793238	C	T	15793238	2	4	22	1	0	0	0	0	0	0	0	1	4187	912	32	2		2	CYP4F12	19	15793238	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2026	15793238	43335745	9612	14720										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15793282	15793282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgaccttggacagtctAcagaaatgcatcttcagctt	7	11	4	2	rs35352350		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15793282A>G	ENST00000550308.1	+	6	989	c.609A>G	c.(607-609)ctA>ctG	p.L203L	CYP4F12_ENST00000324632.10_Silent_p.L203L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	203					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGACAGTCTACAGAAATGCA	0.527																																					p.L203L		Atlas-SNP	.											.	CYP4F12	89	.	0			c.A609G						PASS	.	G		62,4344		0,62,2141	115	108	111		609	1.3	1	19	dbSNP_126	111	0,8600		0,0,4300	no	coding-synonymous	CYP4F12	NM_023944.3		0,62,6441	GG,GA,AA		0.0,1.4072,0.4767		203/525	15793282	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	66002	exon6			CAGTCTACAGAAA	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.609A>G	19.37:g.15793282A>G		Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	395	56	0.141772	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			A|0.991;G|0.009	0.009	strong		0.527	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15793282	A	G	15793282	2	3	22	1	0	0	0	0	0	0	0	1	4187	378	14	2		2	CYP4F12	19	15793282	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	44	15793282	43335701	9613	14721										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794411	15794411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtattacctctcccatgaCgggcggcgcttccacagggc	11	15	1	1	rs61731191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15794411C>T	ENST00000550308.1	+	7	1136	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CYP4F12_ENST00000324632.10_Silent_p.D252D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	252					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TCTCCCATGACGGGCGGCGCT	0.557													.|||	88	0.0175719	0.0635	0.0043	5008	,	,		21374	0.0		0.001	False		,,,				2504	0.0				p.D252D		Atlas-SNP	.											.	CYP4F12	89	.	0			c.C756T						PASS	.	C		286,4104		0,286,1909	76	78	77		756	-4.9	0	19	dbSNP_129	77	4,8584		0,4,4290	yes	coding-synonymous	CYP4F12	NM_023944.3		0,290,6199	TT,TC,CC		0.0466,6.5148,2.2346		252/525	15794411	290,12688	2195	4294	6489	SO:0001819	synonymous_variant	66002	exon7			CCATGACGGGCGG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.756C>T	19.37:g.15794411C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	210	58	0.27619	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			C|0.985;T|0.015	0.015	strong		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15794411	C	T	15794411	2	4	22	1	0	0	0	0	0	0	0	1	4187	535	19	1		1	CYP4F12	19	15794411	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1129	15794411	43334572	9614	14722										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794423	15794423	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccatgacgggcggcgcttCcacagggcctgccgcctggt					rs114945576|rs386807235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15794423C>T	ENST00000550308.1	+	7	1148	c.768C>T	c.(766-768)ttC>ttT	p.F256F	CYP4F12_ENST00000324632.10_Silent_p.F256F	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	256					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGCGGCGCTTCCACAGGGCCT	0.557													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20890	0.0		0.001	False		,,,				2504	0.0				p.F256F		Atlas-SNP	.											.	CYP4F12	89	.	0			c.C768T						PASS	.						79	81	80					19																	15794423		2199	4295	6494	SO:0001819	synonymous_variant	66002	exon7			GCGCTTCCACAGG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.768C>T	19.37:g.15794423C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	189	52	0.275132	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			C|0.990;T|0.010	0.010	strong		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15794423	C	T	15794423	2	4	22	1	0	0	0	0	0	0	0	1	4187	854	30	2		2	CYP4F12	19	15794423	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	15794423	43334560	9615	14723	303	2								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794425	15794425	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgacgggcggcgcttccAcagggcctgccgcctggtgc					rs116788636|rs386807235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15794425A>G	ENST00000550308.1	+	7	1150	c.770A>G	c.(769-771)cAc>cGc	p.H257R	CYP4F12_ENST00000324632.10_Missense_Mutation_p.H257R	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	257					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGGCGCTTCCACAGGGCCTGC	0.547													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20966	0.0		0.001	False		,,,				2504	0.0				p.H257R		Atlas-SNP	.											.	CYP4F12	89	.	0			c.A770G						PASS	.	A	ARG/HIS	173,4223		0,173,2025	79	81	80		770	-4.9	0.1	19	dbSNP_132	80	1,8589		0,1,4294	no	missense	CYP4F12	NM_023944.3	29	0,174,6319	GG,GA,AA		0.0116,3.9354,1.3399	benign	257/525	15794425	174,12812	2198	4295	6493	SO:0001583	missense	66002	exon7			GCTTCCACAGGGC	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.770A>G	19.37:g.15794425A>G	ENSP00000448998:p.His257Arg	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	184	49	0.266304	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	20	0.009157509157509158	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	0.001	-3.865349	0.00003	0.039354	1.16E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67865	-0.29;-0.29	2.47	-4.94	0.03057	.	1.089430	0.07278	N	0.870346	T	0.05090	0.0136	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11542	-1.0583	10	0.02654	T	1	.	5.3926	0.16251	0.2262:0.0:0.5255:0.2483	.	257	Q9HCS2	CP4FC_HUMAN	R	257	ENSP00000448998:H257R;ENSP00000321821:H257R	ENSP00000321821:H257R	H	+	2	0	CYP4F12	15655425	0.000000	0.05858	0.056000	0.19401	0.005000	0.04900	-0.089000	0.11180	-1.586000	0.01632	-4.406000	0.00006	CAC	A|0.990;G|0.010	0.010	strong		0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15794425	A	G	15794425	3	3	22	1	0	0	0	0	1	0	0	0	4187	159	6	2	792	2	CYP4F12	19	15794425	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2	15794425	43334558	9616	14724	303	2								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794463	15794463	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatgacttcacagacgctGtcatccgggagcggcgtcgc					rs57578760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15794463G>C	ENST00000550308.1	+	7	1188	c.808G>C	c.(808-810)Gtc>Ctc	p.V270L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.V270L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	270					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CACAGACGCTGTCATCCGGGA	0.537													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20833	0.0		0.001	False		,,,				2504	0.0				p.V270L		Atlas-SNP	.											.	CYP4F12	89	.	0			c.G808C						PASS	.	G	LEU/VAL	254,4142		0,254,1944	93	93	93		808	-1	0.1	19	dbSNP_129	93	2,8594		0,2,4296	no	missense	CYP4F12	NM_023944.3	32	0,256,6240	CC,CG,GG		0.0233,5.778,1.9704	possibly-damaging	270/525	15794463	256,12736	2198	4298	6496	SO:0001583	missense	66002	exon7			GACGCTGTCATCC	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.808G>C	19.37:g.15794463G>C	ENSP00000448998:p.Val270Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	154	44	0.285714	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	.	11.57	1.677010	0.29783	0.05778	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67698	-0.28;-0.28	2.47	-0.985	0.10256	.	0.093718	0.42172	U	0.000741	T	0.25680	0.0625	M	0.76002	2.32	0.31890	N	0.617322	P	0.51147	0.942	P	0.58577	0.841	T	0.62029	-0.6940	10	0.87932	D	0	.	6.6191	0.22792	0.3804:0.0:0.6196:0.0	rs57578760	270	Q9HCS2	CP4FC_HUMAN	L	270	ENSP00000448998:V270L;ENSP00000321821:V270L	ENSP00000321821:V270L	V	+	1	0	CYP4F12	15655463	0.981000	0.34729	0.078000	0.20375	0.184000	0.23303	1.826000	0.39092	-0.124000	0.11724	0.491000	0.48974	GTC	G|0.973;C|0.027	0.027	strong		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15794463	G	C	15794463	3	2	22	1	0	0	0	0	1	0	0	0	4187	1377	48	4	830	4	CYP4F12	19	15794463	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38	15794463	43334520	9617	14725	304	2								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794470	15794470	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcacagacgctgtcatccGggagcggcgtcgcaccctcc					rs150943202	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15794470G>A	ENST00000550308.1	+	7	1195	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R272Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	272					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTGTCATCCGGGAGCGGCGT	0.542													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20675	0.0		0.001	False		,,,				2504	0.0				p.R272Q		Atlas-SNP	.											CYP4F12,NS,haematopoietic_neoplasm,+1,1	CYP4F12	89	1	0			c.G815A						PASS	.	G	GLN/ARG	240,4156		0,240,1958	93	94	94		815	0.3	1	19	dbSNP_134	94	2,8594		0,2,4296	yes	missense	CYP4F12	NM_023944.3	43	0,242,6254	AA,AG,GG		0.0233,5.4595,1.8627	benign	272/525	15794470	242,12750	2198	4298	6496	SO:0001583	missense	66002	exon7			TCATCCGGGAGCG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.815G>A	19.37:g.15794470G>A	ENSP00000448998:p.Arg272Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	155	36	0.232258	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	.	0.017	-1.504706	0.00992	0.054595	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67523	-0.27;-0.27	2.46	0.278	0.15673	.	0.278314	0.28877	N	0.013843	T	0.05456	0.0144	N	0.02751	-0.505	0.24533	N	0.994106	B	0.02656	0.0	B	0.04013	0.001	T	0.14531	-1.0469	10	0.02654	T	1	.	5.8094	0.18457	0.7285:0.0:0.2715:0.0	.	272	Q9HCS2	CP4FC_HUMAN	Q	272	ENSP00000448998:R272Q;ENSP00000321821:R272Q	ENSP00000321821:R272Q	R	+	2	0	CYP4F12	15655470	1.000000	0.71417	0.993000	0.49108	0.356000	0.29392	1.185000	0.32065	-0.008000	0.14320	-0.475000	0.04921	CGG	G|0.989;A|0.011	0.011	strong		0.542	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			A	15794470	G	A	15794470	3	1	22	1	0	0	0	0	1	0	0	0	4187	1116	39	1	837	1	CYP4F12	19	15794470	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7	15794470	43334513	9618	14726	304	2								
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15795690	15795690	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgacaccttcatgtttgGaggtgagggtcccagtgtgg	16	8	1	2	rs61729079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15795690G>C	ENST00000550308.1	+	8	1363	c.983G>C	c.(982-984)gGa>gCa	p.G328A	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G328A	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	328					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTCATGTTTGGAGGTGAGGGT	0.532													.|||	99	0.0197684	0.0711	0.0058	5008	,	,		18415	0.0		0.001	False		,,,				2504	0.0				p.G328A		Atlas-SNP	.											.	CYP4F12	89	.	0			c.G983C						PASS	.	G	ALA/GLY	380,4022		6,368,1827	89	84	85		983	-5.2	0	19	dbSNP_129	85	3,8597		0,3,4297	yes	missense	CYP4F12	NM_023944.3	60	6,371,6124	CC,CG,GG		0.0349,8.6324,2.9457	benign	328/525	15795690	383,12619	2201	4300	6501	SO:0001583	missense	66002	exon8			TGTTTGGAGGTGA	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.983G>C	19.37:g.15795690G>C	ENSP00000448998:p.Gly328Ala	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	151	48	0.317881	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	39	0.017857142857142856	37	0.07520325203252033	2	0.0055248618784530384	0	0.0	0	0.0	.	0.001	-3.085659	0.00035	0.086324	3.49E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.64085	-0.08;-0.08	2.58	-5.16	0.02857	.	0.269718	0.28176	N	0.016308	T	0.01029	0.0034	N	0.02368	-0.58	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.17107	-1.0380	10	0.25106	T	0.35	.	8.4642	0.32947	0.2353:0.4491:0.3156:0.0	rs61729079	328	Q9HCS2	CP4FC_HUMAN	A	328	ENSP00000448998:G328A;ENSP00000321821:G328A	ENSP00000321821:G328A	G	+	2	0	CYP4F12	15656690	0.000000	0.05858	0.041000	0.18516	0.005000	0.04900	-1.520000	0.02241	-5.413000	0.00015	-4.134000	0.00010	GGA	G|0.981;C|0.019	0.019	strong		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15795690	G	C	15795690	3	2	22	1	0	0	0	0	1	0	0	0	4187	1174	41	4	1009	4	CYP4F12	19	15795690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1220	15795690	43333293	9619	14727										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15795939	15795939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccttgcgaggcacccagaAtaccaggagcgctgccgaca	11	14	0	1	rs61729075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15795939A>G	ENST00000550308.1	+	9	1427	c.1047A>G	c.(1045-1047)gaA>gaG	p.E349E	CYP4F12_ENST00000324632.10_Silent_p.E349E	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	349					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGCACCCAGAATACCAGGAGC	0.582													.|||	99	0.0197684	0.0711	0.0058	5008	,	,		18068	0.0		0.001	False		,,,				2504	0.0				p.E349E		Atlas-SNP	.											.	CYP4F12	89	.	0			c.A1047G						PASS	.	G		383,4023		7,369,1827	66	62	63		1047	-0.9	1	19	dbSNP_129	63	3,8597		0,3,4297	no	coding-synonymous	CYP4F12	NM_023944.3		7,372,6124	GG,GA,AA		0.0349,8.6927,2.9679		349/525	15795939	386,12620	2203	4300	6503	SO:0001819	synonymous_variant	66002	exon9			CCCAGAATACCAG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1047A>G	19.37:g.15795939A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	258	71	0.275194	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			A|0.981;G|0.019	0.019	strong		0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15795939	A	G	15795939	2	3	22	1	0	0	0	0	0	0	0	1	4187	98	4	2		2	CYP4F12	19	15795939	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	249	15795939	43333044	9620	14728										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15807305	15807305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacctctggcttttattccTttctccgcagggcccaggta	8	14	3	0	rs688755	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15807305T>C	ENST00000550308.1	+	12	1760	c.1380T>C	c.(1378-1380)ccT>ccC	p.P460P	CYP4F12_ENST00000324632.10_Silent_p.P460P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	460					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTTTTATTCCTTTCTCCGCAG	0.562													t|||	1209	0.241414	0.4024	0.2421	5008	,	,		18267	0.0139		0.2763	False		,,,				2504	0.2219				p.P460P		Atlas-SNP	.											.	CYP4F12	89	.	0			c.T1380C						PASS	.	G		1685,2719		320,1045,837	122	115	117		1380	-2.6	0.9	19	dbSNP_83	117	2117,6483		294,1529,2477	no	coding-synonymous	CYP4F12	NM_023944.3		614,2574,3314	CC,CT,TT		24.6163,38.2607,29.2372		460/525	15807305	3802,9202	2202	4300	6502	SO:0001819	synonymous_variant	66002	exon12			TATTCCTTTCTCC	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1380T>C	19.37:g.15807305T>C		Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	305	212	0.695082	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			T|0.764;C|0.236	0.236	strong		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15807305	T	C	15807305	2	2	22	1	0	0	0	0	0	0	0	1	4187	1596	56	3		3	CYP4F12	19	15807305	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11366	15807305	43321678	9621	14729										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15807830	15807830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccccgcaggaagctggaaTtgatcatgcgcgccgagggc	15	12	1	1	rs593421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15807830T>C	ENST00000550308.1	+	13	1890	c.1510T>C	c.(1510-1512)Ttg>Ctg	p.L504L	CYP4F12_ENST00000324632.10_Silent_p.L504L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	504					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GAAGCTGGAATTGATCATGCG	0.587													C|||	1210	0.241613	0.4032	0.2421	5008	,	,		18747	0.0139		0.2763	False		,,,				2504	0.2219				p.L504L		Atlas-SNP	.											.	CYP4F12	89	.	0			c.T1510C						PASS	.	C		1693,2711		329,1035,838	56	60	59		1510	-3.1	0	19	dbSNP_83	59	2116,6484		294,1528,2478	no	coding-synonymous	CYP4F12	NM_023944.3		623,2563,3316	CC,CT,TT		24.6047,38.4423,29.291		504/525	15807830	3809,9195	2202	4300	6502	SO:0001819	synonymous_variant	66002	exon13			CTGGAATTGATCA	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1510T>C	19.37:g.15807830T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	246	149	0.605691	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			T|0.770;C|0.230	0.230	strong		0.587	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15807830	T	C	15807830	2	2	22	1	0	0	0	0	0	0	0	1	4187	1490	52	2		2	CYP4F12	19	15807830	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	525	15807830	43321153	9622	14730										
OR10H2	26538	hgsc.bcm.edu	37	chr19	15838972	15838972	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtacctgttcacgctgcTgggcaacctgctcatcatgg	11	12	3	0	rs4569397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15838972T>A	ENST00000305899.3	+	1	139	c.119T>A	c.(118-120)cTg>cAg	p.L40Q		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	40			L -> Q (in dbSNP:rs4569397).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TTCACGCTGCTGGGCAACCTG	0.582													T|||	1310	0.261581	0.4319	0.2752	5008	,	,		22562	0.0119		0.3131	False		,,,				2504	0.226				p.L40Q		Atlas-SNP	.											OR10H2,NS,carcinoma,-1,1	OR10H2	59	1	0			c.T119A						PASS	.	T	GLN/LEU	1798,2608		372,1054,777	228	189	202		119	2.9	1	19	dbSNP_111	202	2471,6125		379,1713,2206	no	missense	OR10H2	NM_013939.2	113	751,2767,2983	AA,AT,TT		28.7459,40.808,32.8334	probably-damaging	40/316	15838972	4269,8733	2203	4298	6501	SO:0001583	missense	26538	exon1			CGCTGCTGGGCAA	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.119T>A	19.37:g.15838972T>A	ENSP00000306095:p.Leu40Gln	Somatic	356	0	0		WXS	Illumina HiSeq	Phase_I	321	140	0.436137	NM_013939	Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	563	0.25778388278388276	198	0.4024390243902439	115	0.31767955801104975	11	0.019230769230769232	239	0.3153034300791557	.	16.52	3.146455	0.57044	0.40808	0.287459	ENSG00000171942	ENST00000305899	T	0.00625	6.14	2.88	2.88	0.33553	.	0.000000	0.38720	N	0.001598	T	0.00012	0.0000	M	0.93016	3.37	0.29061	P	0.88391	D	0.89917	1.0	D	0.91635	0.999	T	0.40646	-0.9552	9	0.40728	T	0.16	.	4.5583	0.12147	0.0:0.1544:0.0:0.8456	rs4569397	40	O60403	O10H2_HUMAN	Q	40	ENSP00000306095:L40Q	ENSP00000306095:L40Q	L	+	2	0	OR10H2	15699972	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.639000	0.24690	1.186000	0.42985	0.438000	0.28831	CTG	T|0.581;A|0.419	0.419	strong		0.582	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			A	15838972	T	A	15838972	3	1	22	1	0	0	0	0	1	0	0	0	10906	1580	55	5	121	5	OR10H2	19	15838972	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31142	15838972	43290011	9623	14731										
OR10H2	26538	hgsc.bcm.edu	37	chr19	15839081	15839081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatcctctacaccgtggcCatcatcccgcgcatgctggc	10	16	2	1	rs2067083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15839081C>T	ENST00000305899.3	+	1	248	c.228C>T	c.(226-228)gcC>gcT	p.A76A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACACCGTGGCCATCATCCCGC	0.617													C|||	1287	0.256989	0.4198	0.2709	5008	,	,		23430	0.0119		0.3111	False		,,,				2504	0.2239				p.A76A		Atlas-SNP	.											.	OR10H2	59	.	0			c.C228T						PASS	.	C		1763,2643		337,1089,777	149	122	131		228	2.3	0.8	19	dbSNP_96	131	2449,6151		356,1737,2207	no	coding-synonymous	OR10H2	NM_013939.2		693,2826,2984	TT,TC,CC		28.4767,40.0136,32.3851		76/316	15839081	4212,8794	2203	4300	6503	SO:0001819	synonymous_variant	26538	exon1			CGTGGCCATCATC	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.228C>T	19.37:g.15839081C>T		Somatic	437	1	0.00228833		WXS	Illumina HiSeq	Phase_I	426	168	0.394366	NM_013939	Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																			C|0.708;T|0.292	0.292	strong		0.617	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839081	C	T	15839081	2	4	22	1	0	0	0	0	0	0	0	1	10906	581	21	2		2	OR10H2	19	15839081	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109	15839081	43289902	9624	14732										
OR10H3	26532	hgsc.bcm.edu	37	chr19	15852363	15852363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacagtttggattgaacGcagactccacacacccatgt	9	13	0	2	rs11670007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15852363G>A	ENST00000305892.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	54			R -> H (in dbSNP:rs11670007).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGATTGAACGCAGACTCCAC	0.527													g|||	1308	0.261182	0.4319	0.2752	5008	,	,		23202	0.0119		0.3131	False		,,,				2504	0.2239				p.R54H		Atlas-SNP	.											OR10H3,caecum,carcinoma,+1,2	OR10H3	53	2	0			c.G161A						PASS	.	G	HIS/ARG	1796,2610		372,1052,779	413	362	379		161	-4.7	0.2	19	dbSNP_120	379	2472,6128		379,1714,2207	yes	missense	OR10H3	NM_013938.1	29	751,2766,2986	AA,AG,GG		28.7442,40.7626,32.8156	benign	54/317	15852363	4268,8738	2203	4300	6503	SO:0001583	missense	26532	exon1			TTGAACGCAGACT		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.161G>A	19.37:g.15852363G>A	ENSP00000307130:p.Arg54His	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	308	138	0.448052	NM_013938	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	CCDS12334.1	563	0.25778388278388276	198	0.4024390243902439	115	0.31767955801104975	11	0.019230769230769232	239	0.3153034300791557	.	0.009	-1.816832	0.00595	0.407626	0.287442	ENSG00000171936	ENST00000305892	T	0.01084	5.36	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	0.910830	0.09011	N	0.861532	T	0.00012	0.0000	N	0.04820	-0.15	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.27468	-1.0073	9	0.10636	T	0.68	.	6.0643	0.19854	0.213:0.265:0.522:0.0	rs11670007;rs52827169;rs61232867;rs11670007	54	O60404	O10H3_HUMAN	H	54	ENSP00000307130:R54H	ENSP00000307130:R54H	R	+	2	0	OR10H3	15713363	0.000000	0.05858	0.225000	0.23894	0.114000	0.19823	-2.725000	0.00808	-0.961000	0.03609	-1.125000	0.01998	CGC	G|0.700;A|0.300	0.300	strong		0.527	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			A	15852363	G	A	15852363	3	1	22	1	0	0	0	0	1	0	0	0	10907	1087	38	1	163	1	OR10H3	19	15852363	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13282	15852363	43276620	9625	14733										
OR10H3	26532	hgsc.bcm.edu	37	chr19	15853150	15853150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttctgccctctaagctcCtaatggccagtttggtggtg	12	10	2	0	rs16980824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15853150C>T	ENST00000305892.1	+	1	948	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTAAGCTCCTAATGGCCAG	0.413													c|||	1309	0.261382	0.4327	0.2752	5008	,	,		21513	0.0119		0.3131	False		,,,				2504	0.2239				p.S316S		Atlas-SNP	.											.	OR10H3	53	.	0			c.C948T						PASS	.	C		1780,2620		371,1038,791	54	58	56		948	-1.8	0	19	dbSNP_123	56	2454,6142		373,1708,2217	no	coding-synonymous	OR10H3	NM_013938.1		744,2746,3008	TT,TC,CC		28.5482,40.4545,32.5793		316/317	15853150	4234,8762	2200	4298	6498	SO:0001819	synonymous_variant	26532	exon1			AAGCTCCTAATGG		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.948C>T	19.37:g.15853150C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_013938	Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	CCDS12334.1																																																																																			C|0.720;T|0.280	0.280	strong		0.413	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			T	15853150	C	T	15853150	2	4	22	1	0	0	0	0	0	0	0	1	10907	695	24	2		2	OR10H3	19	15853150	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	787	15853150	43275833	9626	14734										
OR10H5	284433	hgsc.bcm.edu	37	chr19	15904914	15904914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcctcgttggcttctctgCcttcccccacctccagctga	6	19	1	1	rs150835909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15904914C>T	ENST00000308940.8	+	1	154	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	19						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)|liver(1)|lung(9)|ovary(1)	20						GGCTTCTCTGCCTTCCCCCAC	0.582													.|||	34	0.00678914	0.025	0.0014	5008	,	,		19279	0.0		0.0	False		,,,				2504	0.0				p.A19V		Atlas-SNP	.											.	OR10H5	49	.	0			c.C56T						PASS	.	C	VAL/ALA	159,4247		6,147,2050	252	210	225		56	-1.8	0.2	19	dbSNP_134	225	2,8598		0,2,4298	no	missense	OR10H5	NM_001004466.1	64	6,149,6348	TT,TC,CC		0.0233,3.6087,1.2379	benign	19/316	15904914	161,12845	2203	4300	6503	SO:0001583	missense	284433	exon1			TCTCTGCCTTCCC	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.56C>T	19.37:g.15904914C>T	ENSP00000310704:p.Ala19Val	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	179	86	0.480447	NM_001004466	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	.	4.228	0.041170	0.08196	0.036087	2.33E-4	ENSG00000172519	ENST00000308940	T	0.00330	8.08	3.45	-1.79	0.07932	.	0.432269	0.19564	N	0.111245	T	0.00039	0.0001	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27673	-1.0067	10	0.41790	T	0.15	.	6.7765	0.23622	0.4443:0.2643:0.2914:0.0	.	19	Q8NGA6	O10H5_HUMAN	V	19	ENSP00000310704:A19V	ENSP00000310704:A19V	A	+	2	0	OR10H5	15765914	0.000000	0.05858	0.153000	0.22517	0.262000	0.26303	-1.472000	0.02341	-0.540000	0.06265	0.573000	0.79308	GCC	C|0.990;T|0.010	0.010	strong		0.582	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15904914	C	T	15904914	3	4	22	1	0	0	0	0	1	0	0	0	10909	739	26	2	58	2	OR10H5	19	15904914	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51764	15904914	43224069	9627	14735										
OR10H5	284433	hgsc.bcm.edu	37	chr19	15905661	15905661	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcccaaaggtccccagtCtccggaaggagacaccttga	11	13	1	2	rs67455341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:15905661C>A	ENST00000308940.8	+	1	901	c.803C>A	c.(802-804)tCt>tAt	p.S268Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	268						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)|liver(1)|lung(9)|ovary(1)	20						GGTCCCCAGTCTCCGGAAGGA	0.577													.|||	1121	0.223842	0.3812	0.2565	5008	,	,		16995	0.002		0.2952	False		,,,				2504	0.1431				p.S268Y		Atlas-SNP	.											.	OR10H5	49	.	0			c.C803A						PASS	.	C	TYR/SER	1626,2780		303,1020,880	114	93	100		803	2.7	0	19	dbSNP_130	100	2161,6439		294,1573,2433	no	missense	OR10H5	NM_001004466.1	144	597,2593,3313	AA,AC,CC		25.1279,36.9042,29.1173	possibly-damaging	268/316	15905661	3787,9219	2203	4300	6503	SO:0001583	missense	284433	exon1			CCCAGTCTCCGGA	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.803C>A	19.37:g.15905661C>A	ENSP00000310704:p.Ser268Tyr	Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	217	124	0.571429	NM_001004466	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	515	0.2358058608058608	177	0.3597560975609756	114	0.3149171270718232	1	0.0017482517482517483	223	0.2941952506596306	.	8.445	0.851648	0.17034	0.369042	0.251279	ENSG00000172519	ENST00000308940	T	0.00277	8.34	3.88	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.449535	0.18991	N	0.125583	T	0.00012	0.0000	M	0.85859	2.78	0.80722	P	0.0	D	0.53312	0.959	P	0.62649	0.905	T	0.36261	-0.9755	9	0.72032	D	0.01	.	9.6663	0.39986	0.0:0.6307:0.3693:0.0	.	268	Q8NGA6	O10H5_HUMAN	Y	268	ENSP00000310704:S268Y	ENSP00000310704:S268Y	S	+	2	0	OR10H5	15766661	0.000000	0.05858	0.019000	0.16419	0.035000	0.12851	0.184000	0.16939	1.878000	0.54408	0.585000	0.79938	TCT	C|0.733;A|0.267	0.267	strong		0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			A	15905661	C	A	15905661	3	1	22	1	0	0	0	0	1	0	0	0	10909	913	32	4	805	4	OR10H5	19	15905661	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	747	15905661	43223322	9628	14736										
CYP4F11	57834	hgsc.bcm.edu	37	chr19	16024605	16024605	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccctctgcgcgcaatatCagctcgggtttcctgcgggg	12	15	2	0	rs75284625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16024605C>G	ENST00000402119.4	-	12	1938	c.1512G>C	c.(1510-1512)ctG>ctC	p.L504L	CYP4F11_ENST00000248041.8_Silent_p.L504L|CYP4F11_ENST00000591841.1_Silent_p.L179L|CYP4F11_ENST00000326742.8_3'UTR	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGCGCAATATCAGCTCGGGTT	0.632													.|||	36	0.0071885	0.0257	0.0029	5008	,	,		15991	0.0		0.0	False		,,,				2504	0.0				p.L504L		Atlas-SNP	.											.	CYP4F11	83	.	0			c.G1512C						PASS	.	C	,	190,4216	120.8+/-158.4	8,174,2021	62	57	59		1512,1512	1.6	0.2	19	dbSNP_132	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYP4F11	NM_001128932.1,NM_021187.3	,	8,175,6320	GG,GC,CC		0.0116,4.3123,1.4686	,	504/525,504/525	16024605	191,12815	2203	4300	6503	SO:0001819	synonymous_variant	57834	exon13			CAATATCAGCTCG	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1512G>C	19.37:g.16024605C>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	150	81	0.54	NM_001128932		Silent	SNP	ENST00000402119.4	37	CCDS12337.1																																																																																			C|0.990;G|0.010	0.010	strong		0.632	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		G	16024605	C	G	16024605	2	3	22	1	0	0	0	0	0	0	0	1	4186	813	29	4		4	CYP4F11	19	16024605	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118944	16024605	43104378	9629	14737										
OR10H4	126541	hgsc.bcm.edu	37	chr19	16060021	16060021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttcttgtgcaccctctcCgtctctgagattctgttcac	6	15	6	1	rs16980821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16060021C>T	ENST00000322107.1	+	1	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCACCCTCTCCGTCTCTGAGA	0.512													.|||	1210	0.241613	0.4629	0.1772	5008	,	,		22980	0.0526		0.2644	False		,,,				2504	0.1595				p.S68S		Atlas-SNP	.											.	OR10H4	48	.	0			c.C204T						PASS	.	C		1849,2557	537.5+/-374.7	384,1081,738	425	392	403		204	0.1	0.6	19	dbSNP_123	403	2050,6550	357.3+/-330.7	236,1578,2486	no	coding-synonymous	OR10H4	NM_001004465.1		620,2659,3224	TT,TC,CC		23.8372,41.9655,29.9785		68/317	16060021	3899,9107	2203	4300	6503	SO:0001819	synonymous_variant	126541	exon1			CCTCTCCGTCTCT	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.204C>T	19.37:g.16060021C>T		Somatic	370	0	0		WXS	Illumina HiSeq	Phase_I	372	372	1	NM_001004465	Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	CCDS32941.1																																																																																			C|0.723;T|0.277	0.277	strong		0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			T	16060021	C	T	16060021	2	4	22	1	0	0	0	0	0	0	0	1	10908	639	23	1		1	OR10H4	19	16060021	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35416	16060021	43068962	9630	14738										
OR10H4	126541	hgsc.bcm.edu	37	chr19	16060248	16060248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccccgtgactgtgcccAtcttgtggcctgtacctggg	13	14	1	1	rs16980822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16060248A>G	ENST00000322107.1	+	1	431	c.431A>G	c.(430-432)cAt>cGt	p.H144R		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	144			H -> R (in dbSNP:rs16980822).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GACTGTGCCCATCTTGTGGCC	0.537													.|||	1211	0.241813	0.4622	0.1772	5008	,	,		23626	0.0546		0.2644	False		,,,				2504	0.1595				p.H144R		Atlas-SNP	.											OR10H4,NS,carcinoma,+1,1	OR10H4	48	1	0			c.A431G						PASS	.	G	ARG/HIS	1849,2557		384,1081,738	183	157	166		431	0.4	0	19	dbSNP_123	166	2049,6551		235,1579,2486	yes	missense	OR10H4	NM_001004465.1	29	619,2660,3224	GG,GA,AA		23.8256,41.9655,29.9708	benign	144/317	16060248	3898,9108	2203	4300	6503	SO:0001583	missense	126541	exon1			GTGCCCATCTTGT	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.431A>G	19.37:g.16060248A>G	ENSP00000318834:p.His144Arg	Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	274	273	0.99635	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	549	0.25137362637362637	237	0.4817073170731707	82	0.2265193370165746	40	0.06993006993006994	190	0.25065963060686014	N	0.676	-0.799908	0.02841	0.419655	0.238256	ENSG00000176231	ENST00000322107	T	0.35789	1.29	1.53	0.441	0.16577	GPCR, rhodopsin-like superfamily (1);	0.568736	0.13060	N	0.416993	T	0.00012	0.0000	N	0.02842	-0.48	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47849	-0.9085	9	0.18710	T	0.47	.	4.571	0.12210	0.6061:0.0:0.3939:0.0	rs16980822;rs52815203;rs59896686;rs16980822	144	Q8NGA5	O10H4_HUMAN	R	144	ENSP00000318834:H144R	ENSP00000318834:H144R	H	+	2	0	OR10H4	15921248	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-2.003000	0.01463	-0.004000	0.14419	-0.392000	0.06488	CAT	A|0.724;G|0.276	0.276	strong		0.537	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			G	16060248	A	G	16060248	3	3	22	1	0	0	0	0	1	0	0	0	10908	217	8	2	433	2	OR10H4	19	16060248	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	227	16060248	43068735	9631	14739										
OR10H4	126541	hgsc.bcm.edu	37	chr19	16060453	16060453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcacagccctgataggctgTttattcctcatcatcctctc	6	14	4	1	rs115548355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16060453T>C	ENST00000322107.1	+	1	636	c.636T>C	c.(634-636)tgT>tgC	p.C212C		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGATAGGCTGTTTATTCCTCA	0.488													.|||	43	0.00858626	0.0318	0.0014	5008	,	,		23791	0.0		0.0	False		,,,				2504	0.0				p.C212C		Atlas-SNP	.											.	OR10H4	48	.	0			c.T636C						PASS	.	T		200,4206	125.7+/-162.9	6,188,2009	295	266	276		636	-0.8	0.8	19	dbSNP_132	276	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10H4	NM_001004465.1		6,189,6308	CC,CT,TT		0.0116,4.5393,1.5454		212/317	16060453	201,12805	2203	4300	6503	SO:0001819	synonymous_variant	126541	exon1			AGGCTGTTTATTC	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.636T>C	19.37:g.16060453T>C		Somatic	389	1	0.00257069		WXS	Illumina HiSeq	Phase_I	390	196	0.502564	NM_001004465	Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	CCDS32941.1																																																																																			T|0.988;C|0.012	0.012	strong		0.488	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			C	16060453	T	C	16060453	2	2	22	1	0	0	0	0	0	0	0	1	10908	1731	60	2		2	OR10H4	19	16060453	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	205	16060453	43068530	9632	14740										
OR10H4	126541	hgsc.bcm.edu	37	chr19	16060658	16060658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgatggccaccacctatActgtcttcacccccttcctt	4	18	2	1	rs11880184	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16060658A>G	ENST00000322107.1	+	1	841	c.841A>G	c.(841-843)Act>Gct	p.T281A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	281			T -> A (in dbSNP:rs11880184).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CACCACCTATACTGTCTTCAC	0.458													A|||	1211	0.241813	0.4622	0.1772	5008	,	,		21784	0.0546		0.2644	False		,,,				2504	0.1595				p.T281A		Atlas-SNP	.											.	OR10H4	48	.	0			c.A841G						PASS	.	A	ALA/THR	1849,2557	537.5+/-374.7	383,1083,737	151	133	139		841	1	1	19	dbSNP_120	139	2048,6552	357.0+/-330.6	235,1578,2487	yes	missense	OR10H4	NM_001004465.1	58	618,2661,3224	GG,GA,AA		23.814,41.9655,29.9631	benign	281/317	16060658	3897,9109	2203	4300	6503	SO:0001583	missense	126541	exon1			ACCTATACTGTCT	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.841A>G	19.37:g.16060658A>G	ENSP00000318834:p.Thr281Ala	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	549	0.25137362637362637	237	0.4817073170731707	82	0.2265193370165746	40	0.06993006993006994	190	0.25065963060686014	a	3.362	-0.130215	0.06753	0.419655	0.23814	ENSG00000176231	ENST00000322107	T	0.00235	8.48	0.988	0.988	0.19796	GPCR, rhodopsin-like superfamily (1);	0.168007	0.27710	U	0.018178	T	0.00012	0.0000	M	0.64404	1.975	0.80722	P	0.0	B	0.21071	0.051	B	0.27887	0.084	T	0.45190	-0.9278	9	0.54805	T	0.06	.	2.8548	0.05569	0.7132:0.0:0.2868:0.0	rs11880184;rs59076186	281	Q8NGA5	O10H4_HUMAN	A	281	ENSP00000318834:T281A	ENSP00000318834:T281A	T	+	1	0	OR10H4	15921658	0.005000	0.15991	0.972000	0.41901	0.349000	0.29174	0.803000	0.27083	0.700000	0.31782	0.397000	0.26171	ACT	A|0.722;G|0.278	0.278	strong		0.458	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			G	16060658	A	G	16060658	3	3	22	1	0	0	0	0	1	0	0	0	10908	391	14	2	843	2	OR10H4	19	16060658	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	205	16060658	43068325	9633	14741										
TPM4	7171	hgsc.bcm.edu	37	chr19	16186865	16186865	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcgtccccaggtggaggaGgagctgacgcacctccagaa	14	12	0	2	rs114042568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16186865G>A	ENST00000300933.4	+	0	0				TPM4_ENST00000344824.6_Silent_p.E41E|TPM4_ENST00000538887.1_Silent_p.E41E	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGGTGGAGGAGGAGCTGACGC	0.617			T	ALK	ALCL								G|||	90	0.0179712	0.062	0.0115	5008	,	,		14293	0.0		0.0	False		,,,				2504	0.0				p.E41E		Atlas-SNP	.		Dom	yes		19	19p13.1	7171	tropomyosin 4		L	.	TPM4	28	.	0			c.G123A						PASS	.	G		143,2989		7,129,1430	30	31	31		123	1.8	1	19	dbSNP_132	31	1,7153		0,1,3576	no	coding-synonymous	TPM4	NM_001145160.1		7,130,5006	AA,AG,GG		0.014,4.5658,1.4		41/285	16186865	144,10142	1566	3577	5143	SO:0001631	upstream_gene_variant	7171	exon2			GGAGGAGGAGCTG		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186865G>A	Exception_encountered	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	137	67	0.489051	NM_001145160	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000300933.4	37	CCDS12338.1																																																																																			G|0.989;A|0.011	0.011	strong		0.617	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		A	16186865	G	A	16186865	1	1	22	0	1	0	0	0	0	0	0	0	16405	991	35	2		2	TPM4	19	16186865	5'Flank	SNP	G	TCGA-G8-6324-01A-11D-2210-10	126207	16186865	42942118	9634	14742										
RAB8A	4218	hgsc.bcm.edu	37	chr19	16238279	16238279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtcgaaaagatgatactCgggaacaagtgtgatgtgaa	13	5	0	4	rs1043308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16238279C>T	ENST00000300935.3	+	5	630	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.L119L	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	119					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						AGATGATACTCGGGAACAAGT	0.582													C|||	1505	0.300519	0.1831	0.379	5008	,	,		20433	0.2976		0.337	False		,,,				2504	0.3691				p.L119L		Atlas-SNP	.											.	RAB8A	19	.	0			c.C357T						PASS	.	C		962,3444	361.4+/-315.7	114,734,1355	106	77	87		357	-9.6	0.6	19	dbSNP_86	87	2789,5811	440.2+/-359.4	457,1875,1968	no	coding-synonymous	RAB8A	NM_005370.4		571,2609,3323	TT,TC,CC		32.4302,21.8339,28.8405		119/208	16238279	3751,9255	2203	4300	6503	SO:0001819	synonymous_variant	4218	exon5			GATACTCGGGAAC		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.357C>T	19.37:g.16238279C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	141	59	0.41844	NM_005370	B4DEK7|P24407|Q6FHV5	Silent	SNP	ENST00000300935.3	37	CCDS12339.1																																																																																			A|0.000;C|0.710;G|0.000;T|0.290	0.290	strong		0.582	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		T	16238279	C	T	16238279	2	4	22	1	0	0	0	0	0	0	0	1	12956	871	31	1		1	RAB8A	19	16238279	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	51414	16238279	42890704	9635	14743										
HSH2D	84941	hgsc.bcm.edu	37	chr19	16259623	16259623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggactggtttgtgcacacCcagatgggccagctggccca	13	13	0	1	rs8103852	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16259623C>T	ENST00000253680.6	+	4	594	c.63C>T	c.(61-63)acC>acT	p.T21T	HSH2D_ENST00000588246.1_Silent_p.T21T|HSH2D_ENST00000593154.2_Silent_p.T21T|HSH2D_ENST00000397372.4_Intron			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	21					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						TTGTGCACACCCAGATGGGCC	0.637													C|||	617	0.123203	0.3464	0.0692	5008	,	,		14551	0.0169		0.0746	False		,,,				2504	0.0194				p.T21T		Atlas-SNP	.											.	HSH2D	16	.	0			c.C63T						PASS	.	C		1139,2703		171,797,953	50	58	56		63	-3.3	1	19	dbSNP_116	56	559,7669		19,521,3574	no	coding-synonymous	HSH2D	NM_032855.2		190,1318,4527	TT,TC,CC		6.7939,29.646,14.0679		21/353	16259623	1698,10372	1921	4114	6035	SO:0001819	synonymous_variant	84941	exon4			GCACACCCAGATG	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.63C>T	19.37:g.16259623C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	101	100	0.990099	NM_032855	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																				C|0.891;T|0.109	0.109	strong		0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16259623	C	T	16259623	2	4	22	1	0	0	0	0	0	0	0	1	7400	610	22	2		2	HSH2D	19	16259623	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21344	16259623	42869360	9636	14744										
HSH2D	84941	hgsc.bcm.edu	37	chr19	16263946	16263946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcccacacctcgctggaCgccctggtcaccttccacca	9	19	1	0	rs1870354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16263946C>T	ENST00000253680.6	+	6	840	c.309C>T	c.(307-309)gaC>gaT	p.D103D	HSH2D_ENST00000593154.2_Silent_p.D103D|HSH2D_ENST00000588246.1_Silent_p.D103D|HSH2D_ENST00000397372.4_Splice_Site			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	103	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTCGCTGGACGCCCTGGTCA	0.617													C|||	96	0.0191693	0.0696	0.0043	5008	,	,		17099	0.0		0.001	False		,,,				2504	0.0				p.D103D		Atlas-SNP	.											.	HSH2D	16	.	0			c.C309T						PASS	.	C		236,3872		5,226,1823	26	30	29		309	-3.9	0.2	19	dbSNP_92	29	3,8351		0,3,4174	no	coding-synonymous	HSH2D	NM_032855.2		5,229,5997	TT,TC,CC		0.0359,5.7449,1.9178		103/353	16263946	239,12223	2054	4177	6231	SO:0001819	synonymous_variant	84941	exon6			GCTGGACGCCCTG	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.309C>T	19.37:g.16263946C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	55	33	0.6	NM_032855	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37		30	0.013736263736263736	27	0.054878048780487805	3	0.008287292817679558	0	0.0	0	0.0	C	0.017	-1.489323	0.01018	0.057449	3.59E-4	ENSG00000196684	ENST00000397372	.	.	.	4.63	-3.9	0.04181	.	.	.	.	.	.	.	.	.	.	.	0.22253	N	0.999254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8363	0.13466	0.0:0.3118:0.3055:0.3827	rs1870354;rs1870354	.	.	.	.	-1	.	.	.	+	.	.	HSH2D	16124946	0.000000	0.05858	0.227000	0.23927	0.006000	0.05464	-2.127000	0.01315	-0.294000	0.08973	-0.949000	0.02662	.	C|0.986;T|0.014	0.014	strong		0.617	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16263946	C	T	16263946	2	4	22	1	0	0	0	0	0	0	0	1	7400	535	19	1		1	HSH2D	19	16263946	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4323	16263946	42865037	9637	14745										
HSH2D	84941	hgsc.bcm.edu	37	chr19	16265241	16265241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgtggattacgaggatctCttcctctactccaacgcagt	8	12	2	0	rs36088948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16265241C>T	ENST00000253680.6	+	7	945	c.414C>T	c.(412-414)ctC>ctT	p.L138L	HSH2D_ENST00000593154.2_Silent_p.L138L|HSH2D_ENST00000588246.1_Silent_p.L138L|HSH2D_ENST00000397372.4_Silent_p.L49L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	138					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGAGGATCTCTTCCTCTACT	0.617													C|||	324	0.0646965	0.149	0.0476	5008	,	,		18037	0.001		0.0746	False		,,,				2504	0.0184				p.L138L		Atlas-SNP	.											.	HSH2D	16	.	0			c.C414T						PASS	.	C		497,3377		25,447,1465	26	29	28		414	1.7	1	19	dbSNP_126	28	494,7612		15,464,3574	no	coding-synonymous	HSH2D	NM_032855.2		40,911,5039	TT,TC,CC		6.0943,12.8291,8.2721		138/353	16265241	991,10989	1937	4053	5990	SO:0001819	synonymous_variant	84941	exon7			GGATCTCTTCCTC	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.414C>T	19.37:g.16265241C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	45	26	0.577778	NM_032855	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																				C|0.927;T|0.073	0.073	strong		0.617	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16265241	C	T	16265241	2	4	22	1	0	0	0	0	0	0	0	1	7400	900	32	2		2	HSH2D	19	16265241	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1295	16265241	42863742	9638	14746										
C19orf44	84167	hgsc.bcm.edu	37	chr19	16612011	16612011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagctgacagaatcctctcTgggggtgcactcgaactcgc	12	12	1	3	rs728117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16612011T>C	ENST00000221671.3	+	2	564	c.408T>C	c.(406-408)tcT>tcC	p.S136S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.S136S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	136										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCCTCTCTGGGGGTGCAC	0.512													C|||	1835	0.366414	0.643	0.3415	5008	,	,		17337	0.1736		0.3221	False		,,,				2504	0.2546				p.S136S		Atlas-SNP	.											.	C19orf44	47	.	0			c.T408C						PASS	.	C		2698,1708	509.6+/-367.3	843,1012,348	55	61	59		408	-2.9	0	19	dbSNP_86	59	2642,5958	684.2+/-403.9	411,1820,2069	no	coding-synonymous	C19orf44	NM_032207.2		1254,2832,2417	CC,CT,TT		30.7209,38.7653,41.058		136/658	16612011	5340,7666	2203	4300	6503	SO:0001819	synonymous_variant	84167	exon2			CCTCTCTGGGGGT	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.408T>C	19.37:g.16612011T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	41	0.577465	NM_032207	Q8N6Y7	Silent	SNP	ENST00000221671.3	37	CCDS12345.1																																																																																			T|0.663;C|0.337	0.337	strong		0.512	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		C	16612011	T	C	16612011	2	2	22	1	0	0	0	0	0	0	0	1	1927	1567	55	3		3	C19orf44	19	16612011	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	346770	16612011	42516972	9639	14747										
MED26	9441	hgsc.bcm.edu	37	chr19	16687870	16687870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggaggccccggagtctcGtccaccctgtccagctgctg	14	15	1	0	rs61734286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16687870G>A	ENST00000263390.3	-	3	1033	c.771C>T	c.(769-771)gaC>gaT	p.D257D	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.D265D	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	257	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCGGAGTCTCGTCCACCCTGT	0.677													G|||	165	0.0329473	0.121	0.0072	5008	,	,		14022	0.0		0.0	False		,,,				2504	0.0				p.D257D		Atlas-SNP	.											.	MED26	25	.	0			c.C771T						PASS	.	G		407,3999	185.0+/-212.2	21,365,1817	30	32	31		771	-9.5	0.1	19	dbSNP_129	31	2,8598		0,2,4298	no	coding-synonymous	MED26	NM_004831.3		21,367,6115	AA,AG,GG		0.0233,9.2374,3.1447		257/601	16687870	409,12597	2203	4300	6503	SO:0001819	synonymous_variant	9441	exon3			AGTCTCGTCCACC	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.771C>T	19.37:g.16687870G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_004831	A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	CCDS12347.1																																																																																			G|0.967;A|0.033	0.033	strong		0.677	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		A	16687870	G	A	16687870	2	1	22	1	0	0	0	0	0	0	0	1	9444	1136	40	1		1	MED26	19	16687870	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75859	16687870	42441113	9640	14748										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860001	16860001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctcagaggaccgggaacAgggagccaccgtcttcctta	13	12	2	1	rs76739123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860001A>T	ENST00000552788.1	+	4	548	c.548A>T	c.(547-549)cAg>cTg	p.Q183L	NWD1_ENST00000379808.3_Missense_Mutation_p.Q183L|NWD1_ENST00000339803.6_Missense_Mutation_p.Q48L|NWD1_ENST00000549814.1_Missense_Mutation_p.Q183L|NWD1_ENST00000524140.2_Missense_Mutation_p.Q183L|NWD1_ENST00000523826.1_De_novo_Start_OutOfFrame			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	183							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACCGGGAACAGGGAGCCACC	0.572													A|||	120	0.0239617	0.0825	0.0101	5008	,	,		17868	0.0		0.001	False		,,,				2504	0.0031				p.Q183L		Atlas-SNP	.											.	NWD1	303	.	0			c.A548T						PASS	.	A	LEU/GLN	279,4127	157.0+/-190.0	5,269,1929	72	57	62		548	-7.3	0	19	dbSNP_131	62	10,8590	6.4+/-24.3	0,10,4290	yes	missense	NWD1	NM_001007525.3	113	5,279,6219	TT,TA,AA		0.1163,6.3323,2.2221	benign	183/1433	16860001	289,12717	2203	4300	6503	SO:0001583	missense	284434	exon6			GGGAACAGGGAGC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.548A>T	19.37:g.16860001A>T	ENSP00000447224:p.Gln183Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	143	79	0.552448	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		49	0.022435897435897436	42	0.08536585365853659	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	a	2.726	-0.265505	0.05754	0.063323	0.001163	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803	T;T;T;T;T	0.56444	2.07;2.07;2.07;2.07;0.46	4.45	-7.35	0.01422	.	1.747030	0.02870	N	0.131458	T	0.01523	0.0049	L	0.39397	1.21	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10474	-1.0628	10	0.54805	T	0.06	-3.4934	2.1523	0.03803	0.2044:0.3718:0.2881:0.1356	.	183;48	Q149M9-3;C9J2Y8	.;.	L	48;183;183;183;183;48	ENSP00000428579:Q183L;ENSP00000447548:Q183L;ENSP00000369136:Q183L;ENSP00000447224:Q183L;ENSP00000340159:Q48L	ENSP00000340159:Q48L	Q	+	2	0	NWD1	16721001	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-1.070000	0.03149	-0.499000	0.04595	CAG	A|0.975;T|0.025	0.025	strong		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16860001	A	T	16860001	3	4	22	1	0	0	0	0	1	0	0	0	10781	188	7	5	149	5	NWD1	19	16860001	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	172131	16860001	42268982	9641	14749										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860084	16860084	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttaggatggtggaccggCtcgcggatggctgcctggac					rs11668502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860084C>T	ENST00000552788.1	+	4	631	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	NWD1_ENST00000379808.3_Missense_Mutation_p.L211F|NWD1_ENST00000339803.6_Missense_Mutation_p.L76F|NWD1_ENST00000549814.1_Missense_Mutation_p.L211F|NWD1_ENST00000524140.2_Missense_Mutation_p.L211F|NWD1_ENST00000523826.1_Missense_Mutation_p.L5F			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	211			L -> F (in dbSNP:rs11668502).				ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGACCGGCTCGCGGATGG	0.587													C|||	330	0.0658946	0.1785	0.0274	5008	,	,		17649	0.0079		0.0288	False		,,,				2504	0.0389				p.L211F		Atlas-SNP	.											.	NWD1	303	.	0			c.C631T						PASS	.						86	69	75					19																	16860084		2203	4300	6503	SO:0001583	missense	284434	exon6			GACCGGCTCGCGG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.631C>T	19.37:g.16860084C>T	ENSP00000447224:p.Leu211Phe	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		121	0.0554029304029304	87	0.17682926829268292	14	0.03867403314917127	1	0.0017482517482517483	19	0.025065963060686015	c	12.93	2.086336	0.36855	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57595	1.92;1.92;1.92;0.4;1.92;0.39	4.52	4.52	0.55395	.	0.333272	0.25729	N	0.028692	T	0.00144	0.0004	N	0.24115	0.695	0.36708	P	0.11951900000000004	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.61201	0.862;0.885;0.853	T	0.03728	-1.1009	9	0.29301	T	0.29	-22.6306	12.6977	0.57014	0.0:1.0:0.0:0.0	rs11668502;rs11668502	211;211;76	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	F	76;211;211;211;5;211;76	ENSP00000428579:L211F;ENSP00000447548:L211F;ENSP00000369136:L211F;ENSP00000428955:L5F;ENSP00000447224:L211F;ENSP00000340159:L76F	ENSP00000340159:L76F	L	+	1	0	NWD1	16721084	0.998000	0.40836	0.983000	0.44433	0.320000	0.28249	3.307000	0.51888	2.068000	0.61886	0.542000	0.68232	CTC	C|0.936;T|0.064	0.064	strong		0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16860084	C	T	16860084	3	4	22	1	0	0	0	0	1	0	0	0	10781	797	28	2	232	2	NWD1	19	16860084	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83	16860084	42268899	9642	14750	305	2								
NWD1	284434	hgsc.bcm.edu	37	chr19	16860087	16860087	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggatggtggaccggctcGcggatggctgcctggacgct					rs61750949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860087G>A	ENST00000552788.1	+	4	634	c.634G>A	c.(634-636)Gcg>Acg	p.A212T	NWD1_ENST00000379808.3_Missense_Mutation_p.A212T|NWD1_ENST00000339803.6_Missense_Mutation_p.A77T|NWD1_ENST00000549814.1_Missense_Mutation_p.A212T|NWD1_ENST00000524140.2_Missense_Mutation_p.A212T|NWD1_ENST00000523826.1_Missense_Mutation_p.A6T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	212							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGACCGGCTCGCGGATGGCTG	0.592													G|||	120	0.0239617	0.0825	0.0101	5008	,	,		16617	0.0		0.001	False		,,,				2504	0.0031				p.A212T		Atlas-SNP	.											.	NWD1	303	.	0			c.G634A						PASS	.						74	56	62					19																	16860087		2203	4300	6503	SO:0001583	missense	284434	exon6			CGGCTCGCGGATG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.634G>A	19.37:g.16860087G>A	ENSP00000447224:p.Ala212Thr	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		49	0.022435897435897436	42	0.08536585365853659	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	g	5.285	0.237974	0.10023	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58940	1.72;1.72;1.72;0.3;1.72;0.44	4.52	-3.02	0.05446	.	0.678723	0.14068	N	0.343619	T	0.01287	0.0042	N	0.24115	0.695	0.09310	N	1	P;P;P	0.48230	0.716;0.907;0.85	B;B;B	0.31495	0.041;0.131;0.062	T	0.04946	-1.0916	10	0.17832	T	0.49	-0.4805	16.5319	0.84362	0.0:0.7256:0.2744:0.0	rs61750949	212;212;77	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	77;212;212;212;6;212;77	ENSP00000428579:A212T;ENSP00000447548:A212T;ENSP00000369136:A212T;ENSP00000428955:A6T;ENSP00000447224:A212T;ENSP00000340159:A77T	ENSP00000340159:A77T	A	+	1	0	NWD1	16721087	0.000000	0.05858	0.005000	0.12908	0.210000	0.24377	0.594000	0.24014	-0.722000	0.04922	-0.337000	0.08149	GCG	G|0.983;A|0.017	0.017	strong		0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16860087	G	A	16860087	3	1	22	1	0	0	0	0	1	0	0	0	10781	1087	38	1	235	1	NWD1	19	16860087	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	16860087	42268896	9643	14751	305	2								
NWD1	284434	hgsc.bcm.edu	37	chr19	16860558	16860558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggcacaagacagtgaccGtcctgcggctgctggggacg	17	11	0	2	rs61733271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860558G>A	ENST00000552788.1	+	4	1105	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	NWD1_ENST00000379808.3_Missense_Mutation_p.V369I|NWD1_ENST00000339803.6_Missense_Mutation_p.V234I|NWD1_ENST00000549814.1_Missense_Mutation_p.V369I|NWD1_ENST00000524140.2_Missense_Mutation_p.V369I|NWD1_ENST00000523826.1_Missense_Mutation_p.V163I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	369	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACAGTGACCGTCCTGCGGCT	0.622													g|||	330	0.0658946	0.1785	0.0274	5008	,	,		18889	0.0079		0.0288	False		,,,				2504	0.0389				p.V369I		Atlas-SNP	.											.	NWD1	303	.	0			c.G1105A						PASS	.		ILE/VAL	715,3691		56,603,1544	32	33	32		1105	1	0.2	19	dbSNP_129	32	322,8276		8,306,3985	yes	missense	NWD1	NM_001007525.3	29	64,909,5529	AA,AG,GG		3.7451,16.2279,7.9745	benign	369/1433	16860558	1037,11967	2203	4299	6502	SO:0001583	missense	284434	exon6			GTGACCGTCCTGC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1105G>A	19.37:g.16860558G>A	ENSP00000447224:p.Val369Ile	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		121	0.0554029304029304	87	0.17682926829268292	14	0.03867403314917127	1	0.0017482517482517483	19	0.025065963060686015	N	3.273	-0.148788	0.06627	0.162279	0.037451	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.42	1.02	0.19986	.	0.069867	0.56097	N	0.000032	T	0.00210	0.0006	L	0.28115	0.83	0.33929	P	0.358212	B;B;B	0.27166	0.17;0.066;0.081	B;B;B	0.32624	0.149;0.017;0.029	T	0.04103	-1.0977	9	0.12103	T	0.63	-23.6771	8.4041	0.32603	0.2739:0.0:0.7261:0.0	rs61733271	369;369;234	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	I	234;369;369;369;163;369;234	ENSP00000428579:V369I;ENSP00000447548:V369I;ENSP00000369136:V369I;ENSP00000428955:V163I;ENSP00000447224:V369I;ENSP00000340159:V234I	ENSP00000340159:V234I	V	+	1	0	NWD1	16721558	0.407000	0.25352	0.207000	0.23584	0.656000	0.38851	0.720000	0.25896	0.094000	0.17404	-0.155000	0.13514	GTC	G|0.927;A|0.073	0.073	strong		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16860558	G	A	16860558	3	1	22	1	0	0	0	0	1	0	0	0	10781	1145	40	1	706	1	NWD1	19	16860558	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	471	16860558	42268425	9644	14752										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860602	16860602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaatgagctcagatgcccgTggcctgctgaagagcatctg	12	11	2	4	rs61731252	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860602T>C	ENST00000552788.1	+	4	1149	c.1149T>C	c.(1147-1149)cgT>cgC	p.R383R	NWD1_ENST00000379808.3_Silent_p.R383R|NWD1_ENST00000339803.6_Silent_p.R248R|NWD1_ENST00000549814.1_Silent_p.R383R|NWD1_ENST00000524140.2_Silent_p.R383R|NWD1_ENST00000523826.1_Silent_p.R177R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	383	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGATGCCCGTGGCCTGCTGA	0.622													t|||	337	0.0672923	0.1838	0.0274	5008	,	,		17972	0.0079		0.0288	False		,,,				2504	0.0389				p.R383R		Atlas-SNP	.											.	NWD1	303	.	0			c.T1149C						PASS	.			733,3673		58,617,1528	32	34	33		1149	-4.7	0	19	dbSNP_129	33	320,8280		7,306,3987	no	coding-synonymous	NWD1	NM_001007525.3		65,923,5515	CC,CT,TT		3.7209,16.6364,8.0963		383/1433	16860602	1053,11953	2203	4300	6503	SO:0001819	synonymous_variant	284434	exon6			TGCCCGTGGCCTG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1149T>C	19.37:g.16860602T>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	56	55	0.982143	NM_001007525	C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																				T|0.927;C|0.073	0.073	strong		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		C	16860602	T	C	16860602	2	2	22	1	0	0	0	0	0	0	0	1	10781	1683	59	2		2	NWD1	19	16860602	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44	16860602	42268381	9645	14753										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860685	16860685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggttctggacgcccacaCcagggtggtccagtttttcc	11	14	1	0	rs61998161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16860685C>T	ENST00000552788.1	+	4	1232	c.1232C>T	c.(1231-1233)aCc>aTc	p.T411I	NWD1_ENST00000379808.3_Missense_Mutation_p.T411I|NWD1_ENST00000339803.6_Missense_Mutation_p.T276I|NWD1_ENST00000549814.1_Missense_Mutation_p.T411I|NWD1_ENST00000524140.2_Missense_Mutation_p.T411I|NWD1_ENST00000523826.1_Missense_Mutation_p.T205I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	411	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACGCCCACACCAGGGTGGTC	0.587													c|||	120	0.0239617	0.0825	0.0101	5008	,	,		18238	0.0		0.001	False		,,,				2504	0.0031				p.T411I		Atlas-SNP	.											.	NWD1	303	.	0			c.C1232T						PASS	.		ILE/THR	266,4134		5,256,1939	55	56	56		1232	-8.4	0	19	dbSNP_129	56	10,8590		0,10,4290	yes	missense	NWD1	NM_001007525.3	89	5,266,6229	TT,TC,CC		0.1163,6.0455,2.1231	benign	411/1433	16860685	276,12724	2200	4300	6500	SO:0001583	missense	284434	exon6			CCCACACCAGGGT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1232C>T	19.37:g.16860685C>T	ENSP00000447224:p.Thr411Ile	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		49	0.022435897435897436	42	0.08536585365853659	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	c	5.508	0.278633	0.10458	0.060455	0.001163	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.77	-8.37	0.00976	.	1.739930	0.02884	N	0.133179	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	P;B;P	0.39022	0.655;0.435;0.491	B;B;B	0.37198	0.243;0.157;0.243	T	0.48547	-0.9026	10	0.33940	T	0.23	-0.9905	16.403	0.83649	0.0991:0.1543:0.7466:0.0	rs61998161	411;411;276	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	I	276;411;411;411;205;411;276	ENSP00000428579:T411I;ENSP00000447548:T411I;ENSP00000369136:T411I;ENSP00000428955:T205I;ENSP00000447224:T411I;ENSP00000340159:T276I	ENSP00000340159:T276I	T	+	2	0	NWD1	16721685	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.167000	0.09940	-0.626000	0.05596	-0.194000	0.12790	ACC	C|0.979;T|0.021	0.021	strong		0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16860685	C	T	16860685	3	4	22	1	0	0	0	0	1	0	0	0	10781	507	18	2	833	2	NWD1	19	16860685	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	83	16860685	42268298	9646	14754										
NWD1	284434	hgsc.bcm.edu	37	chr19	16890243	16890243	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtgggacatggaagagCagcatgtgatccacatgcta	13	8	0	2	rs773930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16890243C>G	ENST00000552788.1	+	10	2698	c.2698C>G	c.(2698-2700)Cag>Gag	p.Q900E	NWD1_ENST00000379808.3_Missense_Mutation_p.Q900E|NWD1_ENST00000339803.6_Missense_Mutation_p.Q765E|NWD1_ENST00000549814.1_Missense_Mutation_p.Q900E|NWD1_ENST00000524140.2_Missense_Mutation_p.Q900E|NWD1_ENST00000523826.1_Missense_Mutation_p.Q694E			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	900			Q -> E (in dbSNP:rs773930).				ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGAAGAGCAGCATGTGAT	0.552											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	937	0.187101	0.5817	0.0778	5008	,	,		20337	0.0		0.0427	False		,,,				2504	0.0726				p.Q900E		Atlas-SNP	.											.	NWD1	303	.	0			c.C2698G						PASS	.	C	GLU/GLN	2061,2345		495,1071,637	208	164	179		2698	-4.1	0	19	dbSNP_86	179	391,8209		7,377,3916	yes	missense	NWD1	NM_001007525.3	29	502,1448,4553	GG,GC,CC		4.5465,46.7771,18.8528	possibly-damaging	900/1433	16890243	2452,10554	2203	4300	6503	SO:0001583	missense	284434	exon12			GAAGAGCAGCATG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2698C>G	19.37:g.16890243C>G	ENSP00000447224:p.Gln900Glu	Somatic	74	0	0	713	WXS	Illumina HiSeq	Phase_I	95	48	0.505263	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		330	0.1510989010989011	272	0.5528455284552846	25	0.06906077348066299	0	0.0	33	0.04353562005277045	-	0.023	-1.401628	0.01165	0.467771	0.045465	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.39406	1.6;1.08;1.6;3.57;3.57;3.57	5.08	-4.05	0.03998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.156090	0.06265	N	0.694563	T	0.00012	0.0000	L	0.49350	1.555	0.80722	P	0.0	B;B;B	0.29301	0.039;0.241;0.039	B;B;B	0.25140	0.016;0.058;0.01	T	0.48375	-0.9041	9	0.20046	T	0.44	2.0E-4	2.7587	0.05300	0.3759:0.2799:0.2577:0.0865	rs773930;rs52816786;rs59224614;rs773930	900;900;765	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	E	765;900;900;900;694;900;765	ENSP00000428579:Q900E;ENSP00000447548:Q900E;ENSP00000369136:Q900E;ENSP00000428955:Q694E;ENSP00000447224:Q900E;ENSP00000340159:Q765E	ENSP00000340159:Q765E	Q	+	1	0	NWD1	16751243	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.426000	0.07008	-0.101000	0.12219	0.479000	0.44913	CAG	C|0.826;G|0.174	0.174	strong		0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		G	16890243	C	G	16890243	3	3	22	1	0	0	0	0	1	0	0	0	10781	711	25	4	2323	4	NWD1	19	16890243	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29558	16890243	42238740	9647	14755										
NWD1	284434	hgsc.bcm.edu	37	chr19	16899852	16899852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgccaactctgcttcaaagGattacacgctgcacttgtgg	9	12	2	0	rs140602425		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16899852G>T	ENST00000552788.1	+	11	2791	c.2791G>T	c.(2791-2793)Gat>Tat	p.D931Y	NWD1_ENST00000379808.3_Missense_Mutation_p.D931Y|NWD1_ENST00000339803.6_Missense_Mutation_p.D796Y|NWD1_ENST00000549814.1_Missense_Mutation_p.D931Y|NWD1_ENST00000524140.2_Missense_Mutation_p.D931Y|NWD1_ENST00000523826.1_Missense_Mutation_p.D725Y			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	931							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTTCAAAGGATTACACGCT	0.498																																					p.D931Y		Atlas-SNP	.											.	NWD1	303	.	0			c.G2791T						PASS	.	G	TYR/ASP	2,4404	4.2+/-10.8	0,2,2201	116	112	113		2791	5.7	0.3	19	dbSNP_134	113	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	160	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	probably-damaging	931/1433	16899852	2,13004	2203	4300	6503	SO:0001583	missense	284434	exon13			TCAAAGGATTACA	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2791G>T	19.37:g.16899852G>T	ENSP00000447224:p.Asp931Tyr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	126	55	0.436508	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	G	13.13	2.144107	0.37825	4.54E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.98701	4.305	0.32370	N	0.55603	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98435	1.0584	10	0.87932	D	0	-35.093	15.2049	0.73173	0.0:0.0:1.0:0.0	.	931;931;796	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	Y	796;931;931;931;725;931;796	ENSP00000428579:D931Y;ENSP00000447548:D931Y;ENSP00000369136:D931Y;ENSP00000428955:D725Y;ENSP00000447224:D931Y;ENSP00000340159:D796Y	ENSP00000340159:D796Y	D	+	1	0	NWD1	16760852	1.000000	0.71417	0.252000	0.24328	0.003000	0.03518	5.303000	0.65738	2.661000	0.90470	0.591000	0.81541	GAT	G|1.000;T|0.000	0.000	weak		0.498	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16899852	G	T	16899852	3	4	22	1	0	0	0	0	1	0	0	0	10781	1174	41	4	2420	4	NWD1	19	16899852	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9609	16899852	42229131	9648	14756										
NWD1	284434	hgsc.bcm.edu	37	chr19	16899865	16899865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaaaggattacacgctgcActtgtggaacttactctctg	8	10	2	0	rs2608738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16899865A>G	ENST00000552788.1	+	11	2804	c.2804A>G	c.(2803-2805)cAc>cGc	p.H935R	NWD1_ENST00000523826.1_Missense_Mutation_p.H729R|NWD1_ENST00000339803.6_Missense_Mutation_p.H800R|NWD1_ENST00000549814.1_Missense_Mutation_p.H935R|NWD1_ENST00000379808.3_Missense_Mutation_p.H935R|NWD1_ENST00000524140.2_Missense_Mutation_p.H935R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	935			H -> R (in dbSNP:rs2608738).				ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACACGCTGCACTTGTGGAAC	0.502													G|||	1014	0.202476	0.6195	0.0749	5008	,	,		18661	0.0		0.0457	False		,,,				2504	0.0992				p.H935R		Atlas-SNP	.											NWD1_ENST00000524140,colon,carcinoma,0,2	NWD1	303	2	0			c.A2804G						PASS	.	G	ARG/HIS	2185,2221	591.2+/-387.5	563,1059,581	113	110	111		2804	5.7	0.8	19	dbSNP_100	111	411,8189	801.2+/-407.4	9,393,3898	yes	missense	NWD1	NM_001007525.3	29	572,1452,4479	GG,GA,AA		4.7791,49.5915,19.96	benign	935/1433	16899865	2596,10410	2203	4300	6503	SO:0001583	missense	284434	exon13			CGCTGCACTTGTG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2804A>G	19.37:g.16899865A>G	ENSP00000447224:p.His935Arg	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	112	49	0.4375	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		350	0.16025641025641027	290	0.5894308943089431	24	0.06629834254143646	0	0.0	36	0.047493403693931395	G	0.025	-1.384694	0.01194	0.495915	0.047791	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060649	0.64402	N	0.000006	T	0.00012	0.0000	N	0.00599	-1.345	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40040	-0.9584	9	0.07482	T	0.82	-12.7912	10.8097	0.46540	0.0877:0.0:0.9123:0.0	rs2608738;rs57504421;rs2608738	935;935;800	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	800;935;935;935;729;935;800	ENSP00000428579:H935R;ENSP00000447548:H935R;ENSP00000369136:H935R;ENSP00000428955:H729R;ENSP00000447224:H935R;ENSP00000340159:H800R	ENSP00000340159:H800R	H	+	2	0	NWD1	16760865	0.991000	0.36638	0.815000	0.32552	0.011000	0.07611	2.810000	0.47979	1.403000	0.46800	-0.186000	0.12905	CAC	A|0.798;G|0.202	0.202	strong		0.502	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		G	16899865	A	G	16899865	3	3	22	1	0	0	0	0	1	0	0	0	10781	159	6	2	2433	2	NWD1	19	16899865	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13	16899865	42229118	9649	14757										
NWD1	284434	hgsc.bcm.edu	37	chr19	16918459	16918459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctggaggttgctgagcagCgcaagctcctatttacgggc	14	10	1	1	rs78570914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:16918459C>T	ENST00000552788.1	+	16	3799	c.3799C>T	c.(3799-3801)Cgc>Tgc	p.R1267C	NWD1_ENST00000379808.3_Missense_Mutation_p.R1267C|NWD1_ENST00000339803.6_Missense_Mutation_p.R1132C|NWD1_ENST00000549814.1_Missense_Mutation_p.R1225C|NWD1_ENST00000524140.2_Missense_Mutation_p.R1267C|NWD1_ENST00000523826.1_Missense_Mutation_p.R1061C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1267							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTGAGCAGCGCAAGCTCCT	0.562													C|||	17	0.00339457	0.0121	0.0014	5008	,	,		18437	0.0		0.0	False		,,,				2504	0.0				p.R1267C		Atlas-SNP	.											NWD1_ENST00000524140,NS,carcinoma,-1,3	NWD1	303	3	0			c.C3799T						PASS	.	C	CYS/ARG	34,4372	40.0+/-72.8	1,32,2170	91	95	94		3799	-1.5	0	19	dbSNP_131	94	0,8600		0,0,4300	yes	missense	NWD1	NM_001007525.3	180	1,32,6470	TT,TC,CC		0.0,0.7717,0.2614	benign	1267/1433	16918459	34,12972	2203	4300	6503	SO:0001583	missense	284434	exon18			GAGCAGCGCAAGC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3799C>T	19.37:g.16918459C>T	ENSP00000447224:p.Arg1267Cys	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	123	54	0.439024	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	7.773	0.707922	0.15239	0.007717	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70749	-0.19;-0.51;-0.19;2.21;1.55;2.21	5.27	-1.54	0.08584	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.389700	0.04604	N	0.399111	T	0.39436	0.1078	N	0.14661	0.345	0.09310	N	1	P;P;P	0.38922	0.519;0.651;0.519	B;B;B	0.34722	0.057;0.188;0.057	T	0.42716	-0.9435	10	0.72032	D	0.01	-0.223	1.2256	0.01932	0.3166:0.3553:0.1858:0.1423	.	1267;1267;1132	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	C	1132;1267;1225;1267;1061;1267;1132	ENSP00000428579:R1267C;ENSP00000447548:R1225C;ENSP00000369136:R1267C;ENSP00000428955:R1061C;ENSP00000447224:R1267C;ENSP00000340159:R1132C	ENSP00000340159:R1132C	R	+	1	0	NWD1	16779459	0.911000	0.30947	0.011000	0.14972	0.055000	0.15305	1.787000	0.38704	-0.087000	0.12528	-0.140000	0.14226	CGC	C|0.997;T|0.003	0.003	strong		0.562	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16918459	C	T	16918459	3	4	22	1	0	0	0	0	1	0	0	0	10781	768	27	1	3448	1	NWD1	19	16918459	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18594	16918459	42210524	9650	14758										
F2RL3	9002	hgsc.bcm.edu	37	chr19	17001240	17001240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaacctctatggtgcctaCgtgcccagcctggcgctgag	13	14	1	1	rs2227347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17001240C>T	ENST00000248076.3	+	2	1296	c.966C>T	c.(964-966)taC>taT	p.Y322Y		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	322					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGGTGCCTACGTGCCCAGCC	0.647													C|||	107	0.0213658	0.0779	0.0058	5008	,	,		17504	0.0		0.0	False		,,,				2504	0.0				p.Y322Y		Atlas-SNP	.											.	F2RL3	20	.	0			c.C966T						PASS	.	C		322,4082	164.4+/-196.0	5,312,1885	29	27	28		966	-1	0.8	19	dbSNP_98	28	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	F2RL3	NM_003950.2		5,314,6182	TT,TC,CC		0.0233,7.3115,2.4919		322/386	17001240	324,12678	2202	4299	6501	SO:0001819	synonymous_variant	9002	exon2			TGCCTACGTGCCC	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.966C>T	19.37:g.17001240C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	126	61	0.484127	NM_003950	O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	CCDS12350.1																																																																																			C|0.971;A|0.000	.	strong		0.647	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			T	17001240	C	T	17001240	2	4	22	1	0	0	0	0	0	0	0	1	5346	547	19	1		1	F2RL3	19	17001240	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	82781	17001240	42127743	9651	14759										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17025292	17025292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtaggctgtcagcgggacaGtgccgtggatcccaccctgc	14	14	1	0	rs706761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17025292G>A	ENST00000443236.1	-	29	3975	c.3944C>T	c.(3943-3945)aCt>aTt	p.T1315I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1268						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCGGGACAGTGCCGTGGAT	0.622													G|||	3222	0.643371	0.8419	0.4597	5008	,	,		17864	0.7073		0.5835	False		,,,				2504	0.501				p.T1315I		Atlas-SNP	.											.	CPAMD8	192	.	0			c.C3944T						PASS	.	G	ILE/THR	3356,812		1370,616,98	71	75	74		3944	1.8	0.6	19	dbSNP_86	74	4606,3838		1251,2104,867	yes	missense	CPAMD8	NM_015692.2	89	2621,2720,965	AA,AG,GG		45.4524,19.4818,36.8696	possibly-damaging	1315/1933	17025292	7962,4650	2084	4222	6306	SO:0001583	missense	27151	exon29			GGGACAGTGCCGT	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3944C>T	19.37:g.17025292G>A	ENSP00000402505:p.Thr1315Ile	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	143	142	0.993007	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	1420	0.6501831501831502	406	0.8252032520325203	169	0.46685082872928174	400	0.6993006993006993	445	0.5870712401055409	G	9.429	1.085015	0.20390	0.805182	0.545476	ENSG00000160111	ENST00000291440	.	.	.	2.93	1.8	0.24995	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.142056	0.45867	U	0.000336	T	0.00012	0.0000	M	0.62088	1.915	0.09310	P	1.0	P	0.36874	0.572	B	0.38921	0.285	T	0.19451	-1.0305	8	0.38643	T	0.18	.	7.7179	0.28715	0.0:0.0:0.3572:0.6428	rs706761;rs58635731;rs706761	1268	Q8IZJ3	CPMD8_HUMAN	I	1315	.	ENSP00000291440:T1315I	T	-	2	0	CPAMD8	16886292	1.000000	0.71417	0.611000	0.29010	0.054000	0.15201	4.636000	0.61339	1.202000	0.43218	0.555000	0.69702	ACT	G|0.358;A|0.642	0.642	strong		0.622	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17025292	G	A	17025292	3	1	22	1	0	0	0	0	1	0	0	0	3795	1029	36	2	1910	2	CPAMD8	19	17025292	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24052	17025292	42103691	9652	14760										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17049245	17049245	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtaggtgtacgcccggggGactccttccgcctgaaacaa	12	13	0	1	rs61133226	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17049245G>A	ENST00000443236.1	-	23	2977	c.2946C>T	c.(2944-2946)gtC>gtT	p.V982V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	935						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACGCCCGGGGGACTCCTTCCG	0.607													G|||	319	0.0636981	0.1778	0.0331	5008	,	,		18994	0.0387		0.002	False		,,,				2504	0.0204				p.V982V		Atlas-SNP	.											.	CPAMD8	192	.	0			c.C2946T						PASS	.	G		597,3501		42,513,1494	41	45	44		2946	-4.8	0	19	dbSNP_129	44	8,8392		0,8,4192	no	coding-synonymous	CPAMD8	NM_015692.2		42,521,5686	AA,AG,GG		0.0952,14.5681,4.8408		982/1933	17049245	605,11893	2049	4200	6249	SO:0001819	synonymous_variant	27151	exon23			CCGGGGGACTCCT	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2946C>T	19.37:g.17049245G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	37	20	0.540541	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	122	0.055860805860805864	89	0.18089430894308944	11	0.03038674033149171	21	0.03671328671328671	1	0.0013192612137203166	G	2.180	-0.387755	0.04932	0.145681	9.52E-4	ENSG00000160111	ENST00000443236	.	.	.	2.39	-4.78	0.03209	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.37885	P	0.06947800000000004	.	.	.	.	.	.	T	0.19811	-1.0294	3	.	.	.	.	0.9916	0.01458	0.3747:0.0965:0.2404:0.2883	rs61133226;rs61745099	.	.	.	F	993	.	.	S	-	2	0	CPAMD8	16910245	0.410000	0.25376	0.002000	0.10522	0.045000	0.14185	-0.383000	0.07398	-2.191000	0.00756	-2.576000	0.00170	TCC	G|0.961;A|0.039	0.039	strong		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17049245	G	A	17049245	2	1	22	1	0	0	0	0	0	0	0	1	3795	1161	41	2		2	CPAMD8	19	17049245	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23953	17049245	42079738	9653	14761										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17081707	17081707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtataagccgttacctggggGggtgcctggaaggagccact	16	9	0	0	rs9305083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17081707G>T	ENST00000443236.1	-	18	2379	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	736						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTACCTGGGGGGGTGCCTGGA	0.572													G|||	520	0.103834	0.3608	0.036	5008	,	,		16421	0.0		0.0129	False		,,,				2504	0.0051				p.P783H		Atlas-SNP	.											.	CPAMD8	192	.	0			c.C2348A						PASS	.	G	HIS/PRO	1156,2704		169,818,943	26	29	28		2348	-3.2	0.2	19	dbSNP_119	28	180,8074		3,174,3950	yes	missense	CPAMD8	NM_015692.2	77	172,992,4893	TT,TG,GG		2.1808,29.9482,11.0286	possibly-damaging	783/1933	17081707	1336,10778	1930	4127	6057	SO:0001583	missense	27151	exon18			CTGGGGGGGTGCC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2348C>A	19.37:g.17081707G>T	ENSP00000402505:p.Pro783His	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	38	19	0.5	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	222|222	0.10164835164835165|0.10164835164835165	191|191	0.3882113821138211|0.3882113821138211	19|19	0.052486187845303865|0.052486187845303865	0|0	0.0|0.0	12|12	0.0158311345646438|0.0158311345646438	G|G	11.55|11.55	1.673598|1.673598	0.29693|0.29693	0.299482|0.299482	0.021808|0.021808	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.19|3.19	-3.22|-3.22	0.05125|0.05125	.|.	1.230310|1.230310	0.06279|0.06279	N|U	0.697038|0.697038	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	P|P	1.0|1.0	P|.	0.51653|.	0.947|.	B|.	0.40741|.	0.339|.	T|T	0.44329|0.44329	-0.9335|-0.9335	8|6	0.42905|0.14252	T|T	0.14|0.57	.|.	0.9563|0.9563	0.01386|0.01386	0.342:0.161:0.3358:0.1611|0.342:0.161:0.3358:0.1611	rs9305083;rs52812668;rs9305083|rs9305083;rs52812668;rs9305083	736|.	Q8IZJ3|.	CPMD8_HUMAN|.	H|T	783|794	.|.	ENSP00000291440:P783H|ENSP00000402505:P794T	P|P	-|-	2|1	0|0	CPAMD8|CPAMD8	16942707|16942707	0.013000|0.013000	0.17824|0.17824	0.179000|0.179000	0.23059|0.23059	0.258000|0.258000	0.26162|0.26162	0.758000|0.758000	0.26447|0.26447	-0.437000|-0.437000	0.07243|0.07243	-1.045000|-1.045000	0.02358|0.02358	CCC|CCC	G|0.914;T|0.086	0.086	strong		0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17081707	G	T	17081707	3	4	22	1	0	0	0	0	1	0	0	0	3795	1232	43	4	3550	4	CPAMD8	19	17081707	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32462	17081707	42047276	9654	14762										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17088299	17088299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggggtcacggccagaTgaagagaggtcacacacacg	15	10	2	3	rs1824152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17088299T>C	ENST00000443236.1	-	15	1809	c.1778A>G	c.(1777-1779)cAt>cGt	p.H593R	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	546						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACGGCCAGATGAAGAGAGGT	0.592													t|||	2839	0.566893	0.9213	0.3963	5008	,	,		17909	0.5625		0.3777	False		,,,				2504	0.408				p.H593R		Atlas-SNP	.											.	CPAMD8	192	.	0			c.A1778G						PASS	.	C	ARG/HIS	3115,813		1259,597,108	39	45	43		1778	-5.2	0	19	dbSNP_92	43	2825,5453		475,1875,1789	no	missense	CPAMD8	NM_015692.2	29	1734,2472,1897	CC,CT,TT		34.1266,20.6976,48.6646	benign	593/1933	17088299	5940,6266	1964	4139	6103	SO:0001583	missense	27151	exon15			GCCAGATGAAGAG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1778A>G	19.37:g.17088299T>C	ENSP00000402505:p.His593Arg	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	1126|1126	0.5155677655677655|0.5155677655677655	415|415	0.8434959349593496|0.8434959349593496	136|136	0.3756906077348066|0.3756906077348066	306|306	0.534965034965035|0.534965034965035	269|269	0.3548812664907652|0.3548812664907652	t|t	0.001|0.001	-2.964973|-2.964973	0.00049|0.00049	0.793024|0.793024	0.341266|0.341266	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.62|2.62	-5.24|-5.24	0.02789|0.02789	Alpha-2-macroglobulin, N-terminal 2 (1);|.	1.028330|.	0.07794|.	N|.	0.955448|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.10664|0.10664	0.02|0.02	0.21604|0.21604	P|P	0.999620117|0.999620117	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10847|0.10847	-1.0612|-1.0612	8|4	0.15066|.	T|.	0.55|.	.|.	8.2718|8.2718	0.31849|0.31849	0.1001:0.314:0.0:0.5859|0.1001:0.314:0.0:0.5859	rs1824152;rs3745334;rs60607898;rs1824152|rs1824152;rs3745334;rs60607898;rs1824152	546|.	Q8IZJ3|.	CPMD8_HUMAN|.	R|V	593|604	.|.	ENSP00000291440:H593R|.	H|I	-|-	2|1	0|0	CPAMD8|CPAMD8	16949299|16949299	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.081000|0.081000	0.17604|0.17604	-0.493000|-0.493000	0.06459|0.06459	-3.135000|-3.135000	0.00235|0.00235	-4.516000|-4.516000	0.00005|0.00005	CAT|ATC	.	.	weak		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17088299	T	C	17088299	3	2	22	1	0	0	0	0	1	0	0	0	3795	1464	51	2	4132	2	CPAMD8	19	17088299	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6592	17088299	42040684	9655	14763										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17088319	17088319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagagaggtcacacacacGtcgacctcagcttctggggc	12	12	3	2	rs3745335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17088319G>T	ENST00000443236.1	-	15	1789	c.1758C>A	c.(1756-1758)gaC>gaA	p.D586E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	539						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACACACACGTCGACCTCAG	0.597													g|||	1748	0.349042	0.503	0.3012	5008	,	,		17953	0.2837		0.2863	False		,,,				2504	0.3067				p.D586E		Atlas-SNP	.											.	CPAMD8	192	.	0			c.C1758A						PASS	.	G	GLU/ASP	1694,2282		352,990,646	31	38	36		1758	-4.9	0	19	dbSNP_107	36	2249,6059		294,1661,2199	yes	missense	CPAMD8	NM_015692.2	45	646,2651,2845	TT,TG,GG		27.0703,42.6056,32.0987	benign	586/1933	17088319	3943,8341	1988	4154	6142	SO:0001583	missense	27151	exon15			ACACACGTCGACC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1758C>A	19.37:g.17088319G>T	ENSP00000402505:p.Asp586Glu	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	749|749	0.34294871794871795|0.34294871794871795	244|244	0.4959349593495935|0.4959349593495935	114|114	0.3149171270718232|0.3149171270718232	167|167	0.291958041958042|0.291958041958042	224|224	0.2955145118733509|0.2955145118733509	g|g	1.841|1.841	-0.467320|-0.467320	0.04476|0.04476	0.426056|0.426056	0.270703|0.270703	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|T	.|0.63744	.|-0.06	2.45|2.45	-4.91|-4.91	0.03085|0.03085	Alpha-2-macroglobulin, N-terminal 2 (1);|.	1.225170|.	0.06333|.	U|.	0.706515|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.16307|0.16307	0.4|0.4	0.27253|0.27253	P|P	0.9588331|0.9588331	B|.	0.09022|.	0.002|.	B|.	0.18871|.	0.023|.	T|T	0.38650|0.38650	-0.9651|-0.9651	8|5	0.05620|.	T|.	0.96|.	.|.	1.0551|1.0551	0.01588|0.01588	0.1807:0.1571:0.437:0.2253|0.1807:0.1571:0.437:0.2253	rs3745335;rs57288934;rs3745335|rs3745335;rs57288934;rs3745335	539|.	Q8IZJ3|.	CPMD8_HUMAN|.	E|K	586|597	.|ENSP00000402505:T597K	ENSP00000291440:D586E|.	D|T	-|-	3|2	2|0	CPAMD8|CPAMD8	16949319|16949319	0.133000|0.133000	0.22466|0.22466	0.028000|0.028000	0.17463|0.17463	0.151000|0.151000	0.21798|0.21798	-0.780000|-0.780000	0.04654|0.04654	-2.316000|-2.316000	0.00645|0.00645	-1.631000|-1.631000	0.00782|0.00782	GAC|ACG	.	.	weak		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17088319	G	T	17088319	3	4	22	1	0	0	0	0	1	0	0	0	3795	1136	40	4	4152	4	CPAMD8	19	17088319	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20	17088319	42040664	9656	14764										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17091368	17091368	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggggccgcccgcttgctTcgctgctgggtggtgtgggc	19	12	0	0	rs8103646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17091368T>G	ENST00000443236.1	-	14	1696	c.1665A>C	c.(1663-1665)cgA>cgC	p.R555R	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	508						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCGCTTGCTTCGCTGCTGGG	0.587													T|||	2373	0.473842	0.6475	0.3559	5008	,	,		17983	0.5506		0.3509	False		,,,				2504	0.3701				p.R555R		Atlas-SNP	.											CPAMD8,NS,carcinoma,-1,1	CPAMD8	192	1	0			c.A1665C						PASS	.	T		2244,1706		634,976,365	58	65	63		1665	0.6	1	19	dbSNP_116	63	2636,5682		401,1834,1924	no	coding-synonymous	CPAMD8	NM_015692.2		1035,2810,2289	GG,GT,TT		31.6903,43.1899,39.7783		555/1933	17091368	4880,7388	1975	4159	6134	SO:0001819	synonymous_variant	27151	exon14			CTTGCTTCGCTGC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1665A>C	19.37:g.17091368T>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	1035	0.4739010989010989	317	0.6443089430894309	133	0.3674033149171271	312	0.5454545454545454	273	0.36015831134564646	T	7.048	0.563842	0.13498	0.568101	0.316903	ENSG00000160111	ENST00000443236	.	.	.	2.9	0.633	0.17712	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999769414	.	.	.	.	.	.	T	0.43572	-0.9383	3	.	.	.	.	7.1737	0.25732	0.0:0.4272:0.0:0.5728	rs8103646	.	.	.	A	566	.	.	E	-	2	0	CPAMD8	16952368	0.968000	0.33430	0.972000	0.41901	0.565000	0.35776	-0.114000	0.10757	0.105000	0.17753	0.383000	0.25322	GAA	T|0.601;G|0.399	0.399	strong		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17091368	T	G	17091368	2	3	22	1	0	0	0	0	0	0	0	1	3795	1770	62	5		5	CPAMD8	19	17091368	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3049	17091368	42037615	9657	14765										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17100552	17100552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggtactgagcccccacAggcttcccgttcagtgccat	11	15	1	1	rs1973093	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17100552A>G	ENST00000443236.1	-	13	1468	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	432						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCCCCCACAGGCTTCCCGT	0.607													G|||	3047	0.608427	0.8563	0.5043	5008	,	,		16498	0.629		0.5239	False		,,,				2504	0.4131				p.P479P		Atlas-SNP	.											CPAMD8,colon,carcinoma,-2,1	CPAMD8	192	1	0			c.T1437C						PASS	.	G		3096,828		1230,636,96	31	41	38		1437	-5.7	0.1	19	dbSNP_92	38	3989,4297		968,2053,1122	no	coding-synonymous	CPAMD8	NM_015692.2		2198,2689,1218	GG,GA,AA		48.1414,21.1009,41.9738		479/1933	17100552	7085,5125	1962	4143	6105	SO:0001819	synonymous_variant	27151	exon13			CCCCACAGGCTTC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1437T>C	19.37:g.17100552A>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	1332	0.6098901098901099	417	0.8475609756097561	192	0.5303867403314917	347	0.6066433566433567	376	0.49604221635883905	G	0.021	-1.430601	0.01117	0.788991	0.481414	ENSG00000160111	ENST00000443236	.	.	.	2.87	-5.73	0.02398	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.23168	P	0.99818347	.	.	.	.	.	.	T	0.19289	-1.0310	3	.	.	.	.	3.5665	0.07901	0.5238:0.1882:0.1938:0.0942	rs1973093;rs59637240	.	.	.	P	490	.	.	L	-	2	0	CPAMD8	16961552	0.023000	0.18921	0.050000	0.19076	0.001000	0.01503	-1.443000	0.02405	-1.715000	0.01389	-2.582000	0.00168	CTG	A|0.428;G|0.572	0.572	strong		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17100552	A	G	17100552	2	3	22	1	0	0	0	0	0	0	0	1	3795	175	7	3		3	CPAMD8	19	17100552	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9184	17100552	42028431	9658	14766										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17113083	17113083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctctttctcacctggcccGcacagtgcctgtctcacagg	8	18	3	0	rs10426545	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17113083G>A	ENST00000443236.1	-	9	923	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.R251W	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	251						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACCTGGCCCGCACAGTGCCT	0.607													N|||	120	0.0239617	0.0885	0.0043	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.0				p.R298W		Atlas-SNP	.											CPAMD8,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	CPAMD8	192	1	0			c.C892T						scavenged	.	G	TRP/ARG	332,3516		18,296,1610	21	22	22		892	1.5	0	19	dbSNP_119	22	13,8241		0,13,4114	no	missense	CPAMD8	NM_015692.2	101	18,309,5724	AA,AG,GG		0.1575,8.6279,2.8508	probably-damaging	298/1933	17113083	345,11757	1924	4127	6051	SO:0001583	missense	27151	exon9			TGGCCCGCACAGT	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.892C>T	19.37:g.17113083G>A	ENSP00000402505:p.Arg298Trp	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	128	52	0.40625	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	28	0.01282051282051282	25	0.0508130081300813	3	0.008287292817679558	0	0.0	0	0.0	N	15.04	2.714927	0.48622	0.086279	0.001575	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.12039	2.72;2.72	2.61	1.51	0.23008	.	1.430970	0.04807	U	0.434632	T	0.00496	0.0016	L	0.46157	1.445	0.31995	N	0.604078	D	0.59357	0.985	B	0.40534	0.332	T	0.29610	-1.0006	10	0.59425	D	0.04	.	8.4214	0.32703	0.0:0.0:0.5788:0.4212	rs10426545;rs10426545	251	Q8IZJ3	CPMD8_HUMAN	W	298;251	ENSP00000291440:R298W;ENSP00000373577:R251W	ENSP00000291440:R298W	R	-	1	2	CPAMD8	16974083	0.962000	0.33011	0.047000	0.18901	0.941000	0.58515	1.586000	0.36611	0.217000	0.20800	0.466000	0.42574	CGG	G|0.982;A|0.018	0.018	strong		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17113083	G	A	17113083	3	1	22	1	0	0	0	0	1	0	0	0	3795	1086	38	1	5042	1	CPAMD8	19	17113083	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12531	17113083	42015900	9659	14767										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17273893	17273893	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactacgccaatgagcagctGcagtattacttcaaccagca	7	12	1	1	rs7256689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17273893G>T	ENST00000594824.1	+	10	1779	c.1632G>T	c.(1630-1632)ctG>ctT	p.L544L	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000595618.1_Silent_p.L544L|MYO9B_ENST00000397274.2_Silent_p.L544L|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	544	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATGAGCAGCTGCAGTATTACT	0.468													A|||	3747	0.748203	0.9629	0.7406	5008	,	,		20340	0.7312		0.6501	False		,,,				2504	0.5818				p.L544L		Atlas-SNP	.											.	MYO9B	264	.	0			c.G1632T						PASS	.	A	,	3671,333		1689,293,20	62	57	59		1632,1632	-10.1	0.2	19	dbSNP_116	59	5548,2876		1808,1932,472	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	3497,2225,492	TT,TG,GG		34.1406,8.3167,25.8207	,	544/2023,544/2158	17273893	9219,3209	2002	4212	6214	SO:0001819	synonymous_variant	4650	exon10			GCAGCTGCAGTAT		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1632G>T	19.37:g.17273893G>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																				G|0.238;T|0.762	0.762	strong		0.468	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17273893	G	T	17273893	2	4	22	1	0	0	0	0	0	0	0	1	10085	1306	46	4		4	MYO9B	19	17273893	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	160810	17273893	41855090	9660	14768										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17283657	17283657	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctacgtgcgggagctcatCggcatggaccccgtggccgt	14	14	1	0	rs2279006	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17283657C>T	ENST00000594824.1	+	13	2172	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	MYO9B_ENST00000595618.1_Silent_p.I675I|MYO9B_ENST00000397274.2_Silent_p.I675I			Q13459	MYO9B_HUMAN	myosin IXB	675	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGAGCTCATCGGCATGGACC	0.692													C|||	708	0.141374	0.2927	0.0865	5008	,	,		15230	0.0933		0.0785	False		,,,				2504	0.09				p.I675I		Atlas-SNP	.											.	MYO9B	264	.	0			c.C2025T						PASS	.	C	,	1119,3123		130,859,1132	52	60	57		2025,2025	-9	0.7	19	dbSNP_100	57	624,7820		20,584,3618	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	150,1443,4750	TT,TC,CC		7.3899,26.3791,13.7396	,	675/2023,675/2158	17283657	1743,10943	2121	4222	6343	SO:0001819	synonymous_variant	4650	exon13			GCTCATCGGCATG		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2025C>T	19.37:g.17283657C>T		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	48	30	0.625	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																				C|0.845;T|0.155	0.155	strong		0.692	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17283657	C	T	17283657	2	4	22	1	0	0	0	0	0	0	0	1	10085	874	31	1		1	MYO9B	19	17283657	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9764	17283657	41845326	9661	14769										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17303774	17303774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccgtgtacctccaggccTcatggaggggctactggcag	14	13	1	0	rs1545620	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17303774T>G	ENST00000594824.1	+	21	3178	c.3031T>G	c.(3031-3033)Tca>Gca	p.S1011A	MYO9B_ENST00000595618.1_Missense_Mutation_p.S1011A|MYO9B_ENST00000397274.2_Missense_Mutation_p.S1011A			Q13459	MYO9B_HUMAN	myosin IXB	1011	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.			S -> A (in Ref. 1; AAC50402). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTCCAGGCCTCATGGAGGGG	0.677													G|||	3227	0.644369	0.7905	0.7032	5008	,	,		14650	0.7391		0.3897	False		,,,				2504	0.5695				p.S1011A		Atlas-SNP	.											MYO9B_ENST00000319396,NS,carcinoma,0,2	MYO9B	264	2	0			c.T3031G	GRCh37	CM066145	MYO9B	M	rs1545620	PASS	.	G	ALA/SER,ALA/SER	2939,1003		1112,715,144	12	17	15		3031,3031	-1.5	0	19	dbSNP_88	15	3377,4719		787,1803,1458	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	99,99	1899,2518,1602	GG,GT,TT		41.712,25.4439,47.5328	benign,benign	1011/2023,1011/2158	17303774	6316,5722	1971	4048	6019	SO:0001583	missense	4650	exon21			CAGGCCTCATGGA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3031T>G	19.37:g.17303774T>G	ENSP00000471367:p.Ser1011Ala	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	45	44	0.977778	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		1361	0.6231684981684982	382	0.7764227642276422	239	0.6602209944751382	440	0.7692307692307693	300	0.39577836411609496	G	0.005	-2.214157	0.00289	0.745561	0.41712	ENSG00000099331	ENST00000397274	T	0.21361	2.01	4.88	-1.46	0.08800	.	1.199970	0.06003	N	0.648098	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43909	-0.9362	9	0.02654	T	1	.	0.9756	0.01425	0.2544:0.1088:0.337:0.2998	rs1545620;rs57113186;rs1545620	1011;1011;1017	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	A	1011	ENSP00000380444:S1011A	ENSP00000380444:S1011A	S	+	1	0	MYO9B	17164774	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	0.668000	0.25127	0.092000	0.17331	-0.721000	0.03606	TCA	T|0.363;G|0.637	0.637	strong		0.677	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			G	17303774	T	G	17303774	3	3	22	1	0	0	0	0	1	0	0	0	10085	1551	54	5	3109	5	MYO9B	19	17303774	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20117	17303774	41825209	9662	14770										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17305781	17305781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagaaccttccagaagggTcacccaggagcaaggggtga	14	10	1	3	rs45541337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17305781T>G	ENST00000594824.1	+	22	3692	c.3545T>G	c.(3544-3546)gTc>gGc	p.V1182G	MYO9B_ENST00000595618.1_Missense_Mutation_p.V1182G|MYO9B_ENST00000397274.2_Missense_Mutation_p.V1182G			Q13459	MYO9B_HUMAN	myosin IXB	1182	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCAGAAGGGTCACCCAGGAG	0.537													T|||	402	0.0802716	0.2504	0.0418	5008	,	,		17207	0.0		0.0338	False		,,,				2504	0.0082				p.V1182G		Atlas-SNP	.											.	MYO9B	264	.	0			c.T3545G						PASS	.	T	GLY/VAL,GLY/VAL	842,3328		69,704,1312	55	65	61		3545,3545	2	0	19	dbSNP_127	61	263,8161		7,249,3956	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	109,109	76,953,5268	GG,GT,TT		3.122,20.1918,8.774	benign,benign	1182/2023,1182/2158	17305781	1105,11489	2085	4212	6297	SO:0001583	missense	4650	exon22			GAAGGGTCACCCA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3545T>G	19.37:g.17305781T>G	ENSP00000471367:p.Val1182Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	83	32	0.385542	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		163	0.07463369963369963	125	0.2540650406504065	14	0.03867403314917127	0	0.0	24	0.0316622691292876	T	6.891	0.533897	0.13188	0.201918	0.03122	ENSG00000099331	ENST00000397274	D	0.84370	-1.84	5.28	1.95	0.26073	.	0.533191	0.16583	N	0.208110	T	0.00039	0.0001	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.13407	0.009;0.009;0.009	T	0.02553	-1.1142	9	0.22706	T	0.39	.	4.4561	0.11643	0.1763:0.632:0.0:0.1917	rs45541337	1182;1182;1188	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	G	1182	ENSP00000380444:V1182G	ENSP00000380444:V1182G	V	+	2	0	MYO9B	17166781	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.044000	0.13992	0.210000	0.20664	-0.366000	0.07423	GTC	T|0.934;G|0.066	0.066	strong		0.537	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			G	17305781	T	G	17305781	3	3	22	1	0	0	0	0	1	0	0	0	10085	1667	58	5	3627	5	MYO9B	19	17305781	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2007	17305781	41823202	9663	14771										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17312992	17312992	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggagaactaccagatcgtCgtcagcaacctggccactga	10	12	1	3	rs2305765	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17312992C>T	ENST00000594824.1	+	28	4863	c.4716C>T	c.(4714-4716)gtC>gtT	p.V1572V	MYO9B_ENST00000595618.1_Silent_p.V1572V|MYO9B_ENST00000397274.2_Silent_p.V1572V			Q13459	MYO9B_HUMAN	myosin IXB	1572	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCAGATCGTCGTCAGCAACC	0.577													C|||	3007	0.600439	0.5991	0.6729	5008	,	,		21436	0.746		0.3897	False		,,,				2504	0.6176				p.V1572V		Atlas-SNP	.											MYO9B_ENST00000319396,NS,carcinoma,+2,2	MYO9B	264	2	0			c.C4716T						PASS	.	C	,	2172,1850		592,988,431	50	53	52		4716,4716	-9	0.7	19	dbSNP_100	52	3313,5069		672,1969,1550	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	1264,2957,1981	TT,TC,CC		39.5252,45.997,44.2196	,	1572/2023,1572/2158	17312992	5485,6919	2011	4191	6202	SO:0001819	synonymous_variant	4650	exon28			GATCGTCGTCAGC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4716C>T	19.37:g.17312992C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																				C|0.436;T|0.564	0.564	strong		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17312992	C	T	17312992	2	4	22	1	0	0	0	0	0	0	0	1	10085	871	31	1		1	MYO9B	19	17312992	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7211	17312992	41815991	9664	14772										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17316782	17316782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgcagggcgagccaggcgTtgagcctggccacttcggcg	16	13	0	1	rs7248508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17316782T>C	ENST00000594824.1	+	32	5225	c.5078T>C	c.(5077-5079)gTt>gCt	p.V1693A	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.V1693A|MYO9B_ENST00000397274.2_Missense_Mutation_p.V1693A			Q13459	MYO9B_HUMAN	myosin IXB	1693	Tail.			V -> A (in Ref. 1; AAC50402). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGCCAGGCGTTGAGCCTGGC	0.667													C|||	3163	0.631589	0.708	0.6772	5008	,	,		12871	0.746		0.3917	False		,,,				2504	0.6247				p.V1693A		Atlas-SNP	.											MYO9B_ENST00000319396,NS,carcinoma,0,2	MYO9B	264	2	0			c.T5078C						PASS	.	C	ALA/VAL,ALA/VAL	2660,1460		885,890,285	21	27	25		5078,5078	4.7	0	19	dbSNP_116	25	3346,5022		710,1926,1548	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	64,64	1595,2816,1833	CC,CT,TT		39.9857,35.4369,48.0942	benign,benign	1693/2023,1693/2158	17316782	6006,6482	2060	4184	6244	SO:0001583	missense	4650	exon32			CAGGCGTTGAGCC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5078T>C	19.37:g.17316782T>C	ENSP00000471367:p.Val1693Ala	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	18	0.4	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		1311	0.6002747252747253	331	0.6727642276422764	232	0.6408839779005525	445	0.777972027972028	303	0.3997361477572559	C	2.673	-0.277158	0.05679	0.645631	0.399857	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.84442	-1.85	4.74	4.74	0.60224	.	0.234317	0.29676	N	0.011484	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41142	-0.9525	9	0.05959	T	0.93	.	10.8777	0.46921	0.0:0.9112:0.0:0.0888	rs7248508;rs11545735;rs7248508	1693;1693;1699	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	A	1693;38	ENSP00000380444:V1693A	ENSP00000314032:V38A	V	+	2	0	MYO9B	17177782	0.001000	0.12720	0.039000	0.18376	0.005000	0.04900	1.204000	0.32296	1.136000	0.42199	-0.215000	0.12644	GTT	T|0.406;C|0.594	0.594	strong		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			C	17316782	T	C	17316782	3	2	22	1	0	0	0	0	1	0	0	0	10085	1725	60	2	5200	2	MYO9B	19	17316782	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3790	17316782	41812201	9665	14773										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17317955	17317955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggatgtcaaccgcatgtcAcctggggcgctggccattat	13	11	2	0	rs8110964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17317955A>G	ENST00000594824.1	+	35	5673	c.5526A>G	c.(5524-5526)tcA>tcG	p.S1842S	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Silent_p.S1842S|MYO9B_ENST00000397274.2_Silent_p.S1842S			Q13459	MYO9B_HUMAN	myosin IXB	1842	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCGCATGTCACCTGGGGCGC	0.637													G|||	3162	0.63139	0.7073	0.6772	5008	,	,		14431	0.746		0.3926	False		,,,				2504	0.6237				p.S1842S		Atlas-SNP	.											MYO9B_ENST00000319396,NS,carcinoma,0,2	MYO9B	264	2	0			c.A5526G						scavenged	.	G	,	2827,1549		936,955,297	33	38	37		5526,5526	-8.3	0.1	19	dbSNP_116	37	3377,5189		705,1967,1611	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	1641,2922,1908	GG,GA,AA		39.4233,35.3976,47.9369	,	1842/2023,1842/2158	17317955	6204,6738	2188	4283	6471	SO:0001819	synonymous_variant	4650	exon35			CATGTCACCTGGG		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5526A>G	19.37:g.17317955A>G		Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	224	107	0.477679	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																				A|0.384;G|0.616	0.616	strong		0.637	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			G	17317955	A	G	17317955	2	3	22	1	0	0	0	0	0	0	0	1	10085	146	6	2		2	MYO9B	19	17317955	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1173	17317955	41811028	9666	14774										
USHBP1	83878	hgsc.bcm.edu	37	chr19	17366313	17366313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgctccagcaggagcaCgtgagctggacccagggctc	14	14	0	1	rs12459398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17366313C>T	ENST00000252597.3	-	10	1746	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	USHBP1_ENST00000431146.2_Missense_Mutation_p.V461M|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCAGGAGCACGTGAGCTGGA	0.701													C|||	1348	0.269169	0.3132	0.268	5008	,	,		14664	0.2788		0.2197	False		,,,				2504	0.2515				p.V525M		Atlas-SNP	.											.	USHBP1	85	.	0			c.G1573A						PASS	.	C	MET/VAL	1348,3058	434.3+/-343.9	197,954,1052	38	40	39		1573	-5.5	0	19	dbSNP_120	39	1750,6850	304.0+/-306.7	165,1420,2715	no	missense	USHBP1	NM_031941.3	21	362,2374,3767	TT,TC,CC		20.3488,30.5946,23.8198	benign	525/704	17366313	3098,9908	2203	4300	6503	SO:0001583	missense	83878	exon10			GGAGCACGTGAGC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1573G>A	19.37:g.17366313C>T	ENSP00000252597:p.Val525Met	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	76	49	0.644737	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	580	0.26556776556776557	178	0.3617886178861789	87	0.24033149171270718	154	0.2692307692307692	161	0.21240105540897097	C	6.299	0.423219	0.11928	0.305946	0.203488	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17854	2.25;2.25	4.92	-5.46	0.02608	.	2.347010	0.01907	N	0.039582	T	0.00012	0.0000	N	0.22421	0.69	0.58432	P	1.0000000000287557E-6	B;B	0.20671	0.019;0.047	B;B	0.09377	0.004;0.004	T	0.40515	-0.9559	9	0.46703	T	0.11	0.1015	8.5648	0.33534	0.0:0.1432:0.4915:0.3653	rs12459398	461;525	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	M	525;461	ENSP00000252597:V525M;ENSP00000407902:V461M	ENSP00000252597:V525M	V	-	1	0	USHBP1	17227313	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.146000	0.03191	-1.191000	0.02695	-0.882000	0.02950	GTG	C|0.765;T|0.235	0.235	strong		0.701	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		T	17366313	C	T	17366313	3	4	22	1	0	0	0	0	1	0	0	0	17034	536	19	1	554	1	USHBP1	19	17366313	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48358	17366313	41762670	9667	14775										
USHBP1	83878	hgsc.bcm.edu	37	chr19	17367435	17367435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggctctgagagaatcttcaTtagagaacggcgctcctgga	12	9	3	3	rs9676419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17367435T>C	ENST00000252597.3	-	9	1488	c.1315A>G	c.(1315-1317)Atg>Gtg	p.M439V	USHBP1_ENST00000431146.2_Missense_Mutation_p.M375V|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.M439V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGAATCTTCATTAGAGAACGG	0.612													C|||	1650	0.329473	0.4735	0.3098	5008	,	,		18737	0.2758		0.2336	False		,,,				2504	0.3027				p.M439V		Atlas-SNP	.											USHBP1,NS,carcinoma,0,2	USHBP1	85	2	1	Substitution - Missense(1)	prostate(1)	c.A1315G						PASS	.	C	VAL/MET	1957,2449	622.4+/-393.9	428,1101,674	73	73	73		1315	-0.3	0.9	19	dbSNP_119	73	1879,6721	729.3+/-406.7	189,1501,2610	yes	missense	USHBP1	NM_031941.3	21	617,2602,3284	CC,CT,TT		21.8488,44.4167,29.4941	benign	439/704	17367435	3836,9170	2203	4300	6503	SO:0001583	missense	83878	exon9			TCTTCATTAGAGA	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1315A>G	19.37:g.17367435T>C	ENSP00000252597:p.Met439Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	83	38	0.457831	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	689	0.31547619047619047	264	0.5365853658536586	103	0.2845303867403315	150	0.26223776223776224	172	0.22691292875989447	C	0.006	-2.114278	0.00349	0.444167	0.218488	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.10192	2.9;2.91	4.9	-0.346	0.12620	.	0.309917	0.24128	N	0.041292	T	0.00012	0.0000	N	0.00170	-1.935	0.09310	P	0.99999999854739	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36817	-0.9732	9	0.02654	T	1	-9.9883	6.3927	0.21595	0.0:0.4031:0.4212:0.1757	rs9676419;rs59052683;rs9676419	375;439	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	V	439;375	ENSP00000252597:M439V;ENSP00000407902:M375V	ENSP00000252597:M439V	M	-	1	0	USHBP1	17228435	0.875000	0.30112	0.886000	0.34754	0.011000	0.07611	-0.030000	0.12308	-0.123000	0.11745	-0.119000	0.15052	ATG	T|0.693;C|0.307	0.307	strong		0.612	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		C	17367435	T	C	17367435	3	2	22	1	0	0	0	0	1	0	0	0	17034	1493	52	2	816	2	USHBP1	19	17367435	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1122	17367435	41761548	9668	14776										
USHBP1	83878	hgsc.bcm.edu	37	chr19	17370190	17370190	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcggcccttgtatccctgTagcacagctgatagcagacg	11	13	0	2	rs11880383	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17370190T>G	ENST00000252597.3	-	7	1127	c.954A>C	c.(952-954)ctA>ctC	p.L318L	USHBP1_ENST00000431146.2_Silent_p.L254L	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGTATCCCTGTAGCACAGCTG	0.557													G|||	1505	0.300519	0.4902	0.2795	5008	,	,		20871	0.2788		0.1551	False		,,,				2504	0.2311				p.L318L		Atlas-SNP	.											USHBP1,NS,carcinoma,-2,1	USHBP1	85	1	0			c.A954C						PASS	.	G		1978,2428	619.5+/-393.4	440,1098,665	83	79	80		954	-5.1	0.9	19	dbSNP_120	80	1159,7441	766.0+/-407.6	77,1005,3218	no	coding-synonymous	USHBP1	NM_031941.3		517,2103,3883	GG,GT,TT		13.4767,44.8933,24.1196		318/704	17370190	3137,9869	2203	4300	6503	SO:0001819	synonymous_variant	83878	exon7			TCCCTGTAGCACA	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.954A>C	19.37:g.17370190T>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	100	52	0.52	NM_031941		Silent	SNP	ENST00000252597.3	37	CCDS12353.1																																																																																			T|0.737;G|0.263	0.263	strong		0.557	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		G	17370190	T	G	17370190	2	3	22	1	0	0	0	0	0	0	0	1	17034	1625	57	5		5	USHBP1	19	17370190	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2755	17370190	41758793	9669	14777										
ANKLE1	126549	hgsc.bcm.edu	37	chr19	17394124	17394124	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacaacagggacattggctTggaggctgacccaggacccc	13	12	0	2	rs2363956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17394124T>G	ENST00000394458.3	+	5	827	c.551T>G	c.(550-552)tTg>tGg	p.L184W	ANKLE1_ENST00000433424.2_Missense_Mutation_p.L238W|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L173W|ANKLE1_ENST00000598347.1_Missense_Mutation_p.L184W|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L206W	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	184			L -> W (in dbSNP:rs2363956). {ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACATTGGCTTGGAGGCTGAC	0.602													T|||	2307	0.460663	0.5045	0.3905	5008	,	,		18682	0.3115		0.5726	False		,,,				2504	0.4898				p.L184W		Atlas-SNP	.											.	ANKLE1	27	.	0			c.T551G						PASS	.	T	TRP/LEU	2204,2200		565,1074,563	70	77	75	http://www.ncbi.nlm.nih.gov/pubmed?term	551	2.3	0	19	dbSNP_100	75	4461,4139		1169,2123,1008	yes	missense	ANKLE1	NM_152363.4	61	1734,3197,1571	GG,GT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	48.1279,49.9546,48.7465	probably-damaging	184/616	17394124	6665,6339	2202	4300	6502	SO:0001583	missense	126549	exon5			TTGGCTTGGAGGC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.551T>G	19.37:g.17394124T>G	ENSP00000377971:p.Leu184Trp	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	63	26	0.412698	NM_152363	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	983	0.4500915750915751	235	0.47764227642276424	158	0.43646408839779005	160	0.27972027972027974	430	0.5672823218997362	T	15.91	2.973793	0.53720	0.500454	0.518721	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.74526	-0.74;-0.85;-0.83	3.28	2.26	0.28386	.	2.608830	0.02141	U	0.057120	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	B;D;D	0.89917	0.246;1.0;0.999	B;D;D	0.87578	0.066;0.998;0.997	T	0.44345	-0.9334	9	0.34782	T	0.22	-8.2236	4.588	0.12291	0.0:0.1487:0.0:0.8513	rs2363956;rs57542473;rs2363956	184;170;184	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	W	184;238;206;173;184	ENSP00000384753:L184W;ENSP00000394460:L238W;ENSP00000384008:L206W	ENSP00000377971:L173W	L	+	2	0	ANKLE1	17255124	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	0.409000	0.21082	1.505000	0.48720	0.260000	0.18958	TTG	T|0.509;G|0.491	0.491	strong		0.602	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		G	17394124	T	G	17394124	3	3	22	1	0	0	0	0	1	0	0	0	632	1821	63	5	569	5	ANKLE1	19	17394124	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23934	17394124	41734859	9670	14778										
GTPBP3	84705	hgsc.bcm.edu	37	chr19	17450038	17450038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgtagtggtcactggaccCcccaatgcgggcaagagcag	13	13	1	1	rs11880362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17450038C>T	ENST00000324894.8	+	6	839	c.771C>T	c.(769-771)ccC>ccT	p.P257P	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.P279P|GTPBP3_ENST00000358792.7_Silent_p.P289P|GTPBP3_ENST00000600625.1_Silent_p.P257P	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	257	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TCACTGGACCCCCCAATGCGG	0.667													c|||	103	0.0205671	0.0726	0.0101	5008	,	,		12031	0.0		0.0	False		,,,				2504	0.0				p.P289P		Atlas-SNP	.											.	GTPBP3	40	.	0			c.C867T						PASS	.	C	,,,	288,4118		9,270,1924	20	22	21		771,837,771,867	-6.3	0.9	19	dbSNP_120	21	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	,,,	9,271,6223	TT,TC,CC		0.0116,6.5365,2.2221	,,,	257/472,279/515,257/493,289/525	17450038	289,12717	2203	4300	6503	SO:0001819	synonymous_variant	84705	exon5			TGGACCCCCCAAT	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.771C>T	19.37:g.17450038C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	47	23	0.489362	NM_133644	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																			C|0.972;T|0.028	0.028	strong		0.667	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		T	17450038	C	T	17450038	2	4	22	1	0	0	0	0	0	0	0	1	6881	610	22	2		2	GTPBP3	19	17450038	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55914	17450038	41678945	9671	14779										
FAM129C	199786	hgsc.bcm.edu	37	chr19	17638141	17638141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaggagccccgggagacGacagcagcatgggtgggcgg	20	9	0	2	rs73504235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17638141G>A	ENST00000335393.4	+	2	223	c.85G>A	c.(85-87)Gac>Aac	p.D29N	FAM129C_ENST00000599164.1_5'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.D29N|FAM129C_ENST00000599124.1_5'UTR|FAM129C_ENST00000601861.1_5'UTR|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.D29N|FAM129C_ENST00000600871.1_5'UTR|FAM129C_ENST00000332386.5_Missense_Mutation_p.D29N|FAM129C_ENST00000352727.3_Missense_Mutation_p.D29N	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	29										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCCGGGAGACGACAGCAGCAT	0.687													G|||	46	0.0091853	0.0348	0.0	5008	,	,		11779	0.0		0.0	False		,,,				2504	0.0				p.D29N		Atlas-SNP	.											.	FAM129C	110	.	0			c.G85A						PASS	.	G	ASN/ASP,ASN/ASP	96,3940		1,94,1923	26	21	23		85,85	-6	0	19	dbSNP_130	23	3,7943		0,3,3970	yes	missense,missense	FAM129C	NM_001098524.1,NM_173544.4	23,23	1,97,5893	AA,AG,GG		0.0378,2.3786,0.8262	benign,benign	29/652,29/698	17638141	99,11883	2018	3973	5991	SO:0001583	missense	199786	exon2			GGAGACGACAGCA	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.85G>A	19.37:g.17638141G>A	ENSP00000335040:p.Asp29Asn	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	221	221	1	NM_001098524	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	7.241	0.601307	0.13939	0.023786	3.78E-4	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971	T;T;T;T	0.26518	1.92;2.05;1.73;1.75	3.01	-6.03	0.02185	.	1.713730	0.03912	N	0.282032	T	0.04318	0.0119	N	0.08118	0	0.18873	N	0.999985	B;B	0.10296	0.003;0.003	B;B	0.01281	0.0;0.0	T	0.16100	-1.0414	10	0.14656	T	0.56	.	1.1511	0.01786	0.4056:0.0975:0.15:0.3469	.	29;29	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	N	29	ENSP00000335040:D29N;ENSP00000333447:D29N;ENSP00000341067:D29N;ENSP00000300971:D29N	ENSP00000300971:D29N	D	+	1	0	FAM129C	17499141	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-4.173000	0.00280	-3.604000	0.00133	-0.339000	0.08088	GAC	G|0.990;A|0.010	0.010	strong		0.687	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		A	17638141	G	A	17638141	3	1	22	1	0	0	0	0	1	0	0	0	5438	1058	37	1	91	1	FAM129C	19	17638141	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	188103	17638141	41490842	9672	14780										
FAM129C	199786	hgsc.bcm.edu	37	chr19	17643125	17643125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacccagcttcggggccaCccaccccggtggcagccgat	12	18	0	1	rs73504248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17643125C>T	ENST00000335393.4	+	4	471	c.333C>T	c.(331-333)caC>caT	p.H111H	FAM129C_ENST00000599124.1_Silent_p.H80H|FAM129C_ENST00000601861.1_Silent_p.H80H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000300971.2_Silent_p.H111H|FAM129C_ENST00000599164.1_Silent_p.H80H|FAM129C_ENST00000595684.1_Silent_p.H111H|FAM129C_ENST00000600871.1_Silent_p.H57H|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000332386.5_Silent_p.H111H|FAM129C_ENST00000352727.3_Silent_p.H111H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	111										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TTCGGGGCCACCCACCCCGGT	0.647													C|||	105	0.0209665	0.0764	0.0058	5008	,	,		16326	0.0		0.0	False		,,,				2504	0.0				p.H111H		Atlas-SNP	.											.	FAM129C	110	.	0			c.C333T						PASS	.	C	,	316,4090	168.3+/-199.2	13,290,1900	67	66	66		333,333	-2.6	0	19	dbSNP_130	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FAM129C	NM_001098524.1,NM_173544.4	,	13,292,6198	TT,TC,CC		0.0233,7.172,2.445	,	111/652,111/698	17643125	318,12688	2203	4300	6503	SO:0001819	synonymous_variant	199786	exon4			GGGCCACCCACCC	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.333C>T	19.37:g.17643125C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	219	219	1	NM_001098524	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	CCDS12362.1																																																																																			C|0.976;T|0.024	0.024	strong		0.647	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		T	17643125	C	T	17643125	2	4	22	1	0	0	0	0	0	0	0	1	5438	506	18	2		2	FAM129C	19	17643125	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4984	17643125	41485858	9673	14781										
SLC5A5	6528	hgsc.bcm.edu	37	chr19	17988794	17988794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgctcatcaaccaggtCggcctgttcctgatcgtgtc	10	15	2	1	rs35209536	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:17988794C>T	ENST00000222248.3	+	7	1208	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	287					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCAACCAGGTCGGCCTGTTCC	0.632													C|||	97	0.019369	0.0703	0.0058	5008	,	,		18147	0.0		0.0	False		,,,				2504	0.0				p.V287V	Melanoma(65;1008 1708 7910 46650)	Atlas-SNP	.											.	SLC5A5	67	.	0			c.C861T						PASS	.	C		255,4151	148.4+/-182.8	10,235,1958	104	75	85		861	0.3	1	19	dbSNP_126	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC5A5	NM_000453.2		10,236,6257	TT,TC,CC		0.0116,5.7876,1.9683		287/644	17988794	256,12750	2203	4300	6503	SO:0001819	synonymous_variant	6528	exon7			CCAGGTCGGCCTG		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.861C>T	19.37:g.17988794C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	84	41	0.488095	NM_000453	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																			C|0.982;T|0.018	0.018	strong		0.632	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	17988794	C	T	17988794	2	4	22	1	0	0	0	0	0	0	0	1	14668	871	31	1		1	SLC5A5	19	17988794	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	345669	17988794	41140189	9674	14782										
KCNN1	3780	hgsc.bcm.edu	37	chr19	18084724	18084724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccacagctacaatggcagCgtggggcggccgctgggcag	17	12	0	0	rs77030907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18084724C>T	ENST00000222249.9	+	3	346	c.27C>T	c.(25-27)agC>agT	p.S9S	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	9					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	ACAATGGCAGCGTGGGGCGGC	0.756													C|||	48	0.00958466	0.0356	0.0014	5008	,	,		12575	0.0		0.0	False		,,,				2504	0.0				p.S9S		Atlas-SNP	.											.	KCNN1	74	.	0			c.C27T						PASS	.						3	3	3					19																	18084724		1475	3351	4826	SO:0001819	synonymous_variant	3780	exon3			TGGCAGCGTGGGG	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.27C>T	19.37:g.18084724C>T		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	12	7	0.583333	NM_002248	Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	37																																																																																				C|0.990;T|0.010	0.010	strong		0.756	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18084724	C	T	18084724	2	4	22	1	0	0	0	0	0	0	0	1	8078	767	27	1		1	KCNN1	19	18084724	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95930	18084724	41044259	9675	14783										
KCNN1	3780	hgsc.bcm.edu	37	chr19	18084775	18084775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgggacgagaccctccGgaccctgaggccggccaccc	13	19	0	2	rs75754669	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18084775G>A	ENST00000222249.9	+	3	397	c.78G>A	c.(76-78)ccG>ccA	p.P26P	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	26					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GAGACCCTCCGGACCCTGAGG	0.736													G|||	47	0.00938498	0.0348	0.0014	5008	,	,		10833	0.0		0.0	False		,,,				2504	0.0				p.P26P		Atlas-SNP	.											.	KCNN1	74	.	0			c.G78A						PASS	.	G		61,3441		0,61,1690	6	9	8		78	-0.2	0.2	19	dbSNP_131	8	2,7602		0,2,3800	no	coding-synonymous	KCNN1	NM_002248.3		0,63,5490	AA,AG,GG		0.0263,1.7419,0.5673		26/544	18084775	63,11043	1751	3802	5553	SO:0001819	synonymous_variant	3780	exon3			CCCTCCGGACCCT	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.78G>A	19.37:g.18084775G>A		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	5	4	0.8	NM_002248	Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	37																																																																																				G|0.990;A|0.010	0.010	strong		0.736	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		A	18084775	G	A	18084775	2	1	22	1	0	0	0	0	0	0	0	1	8078	1103	39	1		1	KCNN1	19	18084775	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51	18084775	41044208	9676	14784										
ARRDC2	27106	hgsc.bcm.edu	37	chr19	18121154	18121154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggctgggggccttgccGgagcggcctgagggtaagct	20	9	0	1	rs17852059	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18121154G>A	ENST00000222250.4	+	6	1142	c.999G>A	c.(997-999)ccG>ccA	p.P333P	ARRDC2_ENST00000379656.3_Silent_p.P328P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	333					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGGCCTTGCCGGAGCGGCCTG	0.652													G|||	269	0.0537141	0.1157	0.0288	5008	,	,		18135	0.002		0.0467	False		,,,				2504	0.0481				p.P333P		Atlas-SNP	.											.	ARRDC2	60	.	0			c.G999A						PASS	.	G	,	493,3913	210.2+/-230.7	25,443,1735	28	31	30		984,999	-9.6	0	19	dbSNP_123	30	430,8166	128.8+/-187.0	14,402,3882	no	coding-synonymous,coding-synonymous	ARRDC2	NM_001025604.1,NM_015683.1	,	39,845,5617	AA,AG,GG		5.0023,11.1893,7.0989	,	328/403,333/408	18121154	923,12079	2203	4298	6501	SO:0001819	synonymous_variant	27106	exon6			CTTGCCGGAGCGG		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.999G>A	19.37:g.18121154G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	49	25	0.510204	NM_015683	B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	CCDS12370.1																																																																																			G|0.939;A|0.061	0.061	strong		0.652	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		A	18121154	G	A	18121154	2	1	22	1	0	0	0	0	0	0	0	1	983	1103	39	1		1	ARRDC2	19	18121154	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36379	18121154	41007829	9677	14785										
ARRDC2	27106	hgsc.bcm.edu	37	chr19	18121466	18121466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcttccgcaggaccccgaCatgagccttgaaggcccgtt	11	16	0	2	rs8100681	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18121466C>T	ENST00000222250.4	+	7	1241	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	ARRDC2_ENST00000379656.3_Silent_p.D361D	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	366					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGGACCCCGACATGAGCCTTG	0.632													C|||	270	0.0539137	0.1165	0.0288	5008	,	,		17281	0.002		0.0467	False		,,,				2504	0.0481				p.D366D		Atlas-SNP	.											.	ARRDC2	60	.	0			c.C1098T						PASS	.	C	,	498,3908	230.7+/-244.8	27,444,1732	63	62	63		1083,1098	0.2	0	19	dbSNP_116	63	432,8168	133.0+/-190.5	14,404,3882	no	coding-synonymous,coding-synonymous	ARRDC2	NM_001025604.1,NM_015683.1	,	41,848,5614	TT,TC,CC		5.0233,11.3028,7.1505	,	361/403,366/408	18121466	930,12076	2203	4300	6503	SO:0001819	synonymous_variant	27106	exon7			CCCCGACATGAGC		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1098C>T	19.37:g.18121466C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	60	34	0.566667	NM_015683	B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	CCDS12370.1																																																																																			C|0.939;T|0.061	0.061	strong		0.632	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		T	18121466	C	T	18121466	2	4	22	1	0	0	0	0	0	0	0	1	983	477	17	2		2	ARRDC2	19	18121466	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	312	18121466	41007517	9678	14786										
ARRDC2	27106	hgsc.bcm.edu	37	chr19	18123738	18123738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggaggatccaaacccacTcttgggggacatgaggccgc	13	11	1	1	rs7259041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18123738T>C	ENST00000222250.4	+	8	1330	c.1187T>C	c.(1186-1188)cTc>cCc	p.L396P	ARRDC2_ENST00000379656.3_Missense_Mutation_p.L391P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	396			L -> P (in dbSNP:rs7259041). {ECO:0000269|PubMed:15489334}.		signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CCAAACCCACTCTTGGGGGAC	0.532													C|||	1558	0.311102	0.4947	0.1772	5008	,	,		19326	0.2837		0.2545	False		,,,				2504	0.2444				p.L396P		Atlas-SNP	.											.	ARRDC2	60	.	0			c.T1187C						PASS	.	C	PRO/LEU,PRO/LEU	2000,2406	615.6+/-392.6	454,1092,657	63	58	60		1172,1187	2.9	0.4	19	dbSNP_116	60	1976,6624	723.4+/-406.5	245,1486,2569	yes	missense,missense	ARRDC2	NM_001025604.1,NM_015683.1	98,98	699,2578,3226	CC,CT,TT		22.9767,45.3926,30.5705	benign,benign	391/403,396/408	18123738	3976,9030	2203	4300	6503	SO:0001583	missense	27106	exon8			ACCCACTCTTGGG		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1187T>C	19.37:g.18123738T>C	ENSP00000222250:p.Leu396Pro	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_015683	B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	CCDS12370.1	650	0.2976190476190476	236	0.4796747967479675	74	0.20441988950276244	140	0.24475524475524477	200	0.2638522427440633	C	0.003	-2.488262	0.00161	0.453926	0.229767	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.16324	2.35;2.35	2.93	2.93	0.34026	.	0.125947	0.56097	N	0.000035	T	0.00012	0.0000	N	0.00182	-1.905	0.43808	P	0.0036399999999999766	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45425	-0.9262	9	0.06099	T	0.92	-20.7914	8.2902	0.31952	0.0:0.8828:0.0:0.1172	rs7259041;rs11558478;rs17856672;rs52816962;rs7259041	396;391	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	P	391;396	ENSP00000368977:L391P;ENSP00000222250:L396P	ENSP00000222250:L396P	L	+	2	0	ARRDC2	17984738	0.330000	0.24705	0.412000	0.26496	0.062000	0.15995	3.653000	0.54446	0.834000	0.34852	-0.320000	0.08662	CTC	T|0.697;C|0.303	0.303	strong		0.532	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		C	18123738	T	C	18123738	3	2	22	1	0	0	0	0	1	0	0	0	983	1551	54	3	1480	3	ARRDC2	19	18123738	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2272	18123738	41005245	9679	14787										
IL12RB1	3594	hgsc.bcm.edu	37	chr19	18180451	18180451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccattcaatgcaatacgtcAtgctctgagcccgggctggc	11	13	3	1	rs375947	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18180451A>G	ENST00000600835.2	-	11	1392	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.M365T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	365	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		M -> T (in dbSNP:rs375947). {ECO:0000269|Ref.3}.		cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAATACGTCATGCTCTGAGC	0.607													G|||	1345	0.26857	0.2368	0.1758	5008	,	,		18923	0.376		0.3131	False		,,,				2504	0.2209				p.M365T		Atlas-SNP	.											.	IL12RB1	92	.	0			c.T1094C	GRCh37	CM030470	IL12RB1	M	rs375947	PASS	.	G	THR/MET	1071,3079		140,791,1144	84	92	89		1094	-4.5	0	19	dbSNP_80	89	2613,5793		401,1811,1991	yes	missense	IL12RB1	NM_005535.1	81	541,2602,3135	GG,GA,AA		31.0849,25.8072,29.3406	benign	365/663	18180451	3684,8872	2075	4203	6278	SO:0001583	missense	3594	exon10			TACGTCATGCTCT	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1094T>C	19.37:g.18180451A>G	ENSP00000470788:p.Met365Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_005535	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	630	0.28846153846153844	112	0.22764227642276422	75	0.20718232044198895	206	0.36013986013986016	237	0.31266490765171506	G	1.841	-0.467325	0.04476	0.258072	0.310849	ENSG00000096996	ENST00000430026	T	0.79352	-1.26	4.0	-4.51	0.03483	Long hematopoietin receptor, Gp130 family 2, conserved site (1);	0.655827	0.13905	N	0.354671	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09015	-1.0694	9	0.07325	T	0.83	-0.4671	5.8474	0.18673	0.5975:0.0:0.2565:0.1459	rs375947;rs2230366;rs17711020;rs17882709;rs52802164;rs58231425;rs375947	365;365	P42701-2;P42701	.;I12R1_HUMAN	T	365	ENSP00000403103:M365T	ENSP00000403103:M365T	M	-	2	0	IL12RB1	18041451	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.948000	0.03897	-0.781000	0.04548	-0.441000	0.05720	ATG	A|0.701;G|0.299	0.299	strong		0.607	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			G	18180451	A	G	18180451	3	3	22	1	0	0	0	0	1	0	0	0	7626	217	8	2	926	2	IL12RB1	19	18180451	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	56713	18180451	40948532	9680	14788										
IFI30	10437	hgsc.bcm.edu	37	chr19	18288069	18288069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagatgctctccagccaccAcacgagtatgtgccctgggt	10	14	1	1	rs7125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18288069A>G	ENST00000407280.3	+	5	778	c.603A>G	c.(601-603)ccA>ccG	p.P201P	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	201					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)	p.P201P(1)		endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						TCCAGCCACCACACGAGTATG	0.572													G|||	2130	0.425319	0.5825	0.4769	5008	,	,		17497	0.2103		0.5308	False		,,,				2504	0.2894				p.P201P		Atlas-SNP	.											IFI30,NS,carcinoma,0,1	IFI30	12	1	1	Substitution - coding silent(1)	stomach(1)	c.A603G						PASS	.	G		2433,1853		713,1007,423	35	38	37		603	-10.2	0	19	dbSNP_52	37	4504,4014		1247,2010,1002	no	coding-synonymous	IFI30	NM_006332.3		1960,3017,1425	GG,GA,AA		47.1237,43.2338,45.8216		201/251	18288069	6937,5867	2143	4259	6402	SO:0001819	synonymous_variant	10437	exon5			GCCACCACACGAG	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.603A>G	19.37:g.18288069A>G		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	193	193	1	NM_006332	Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	37	CCDS46015.1																																																																																			A|0.525;C|0.003	.	strong		0.572	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		G	18288069	A	G	18288069	2	3	22	1	0	0	0	0	0	0	0	1	7515	146	6	2		2	IFI30	19	18288069	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	107618	18288069	40840914	9681	14789										
PDE4C	5143	hgsc.bcm.edu	37	chr19	18330144	18330144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccatgtaggccactgatcCgggacatgggctgtggggcc	16	12	0	1	rs34503849	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18330144C>T	ENST00000355502.3	-	12	1737	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	PDE4C_ENST00000447275.3_Missense_Mutation_p.R183Q|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.R58Q|PDE4C_ENST00000594617.3_Missense_Mutation_p.R289Q|PDE4C_ENST00000262805.12_Missense_Mutation_p.R257Q|PDE4C_ENST00000597297.1_Missense_Mutation_p.R59Q|PDE4C_ENST00000594465.3_Missense_Mutation_p.R289Q|PDE4C_ENST00000598111.2_Missense_Mutation_p.R59Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	289			R -> Q (in dbSNP:rs34503849).		cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCCACTGATCCGGGACATGGG	0.642													C|||	87	0.0173722	0.0613	0.0058	5008	,	,		16374	0.001		0.001	False		,,,				2504	0.0				p.R289Q		Atlas-SNP	.											.	PDE4C	80	.	0			c.G866A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	201,4205	125.7+/-162.9	4,193,2006	52	50	51		866,770,548	3.7	1	19	dbSNP_126	51	0,8600		0,0,4300	yes	missense,missense,missense	PDE4C	NM_000923.4,NM_001098818.2,NM_001098819.2	43,43,43	4,193,6306	TT,TC,CC		0.0,4.562,1.5454	benign,benign,benign	289/713,257/681,183/607	18330144	201,12805	2203	4300	6503	SO:0001583	missense	5143	exon9			CTGATCCGGGACA		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.866G>A	19.37:g.18330144C>T	ENSP00000347689:p.Arg289Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	94	55	0.585106	NM_000923	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	37	0.01694139194139194	33	0.06707317073170732	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	C	0.914	-0.718231	0.03182	0.04562	0.0	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.68479	-0.31;-0.33;-0.32;-0.02	4.75	3.65	0.41850	.	1.896290	0.02956	N	0.142375	T	0.01730	0.0055	N	0.00038	-2.52	0.28550	N	0.911646	B;B;B;B	0.11235	0.0;0.004;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.48570	-0.9024	10	0.02654	T	1	.	8.4709	0.32984	0.0:0.0967:0.0:0.9033	rs34503849	289;257;95;59	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	Q	368;289;277;257;183;95;58;58;398	ENSP00000347689:R289Q;ENSP00000262805:R257Q;ENSP00000402091:R183Q;ENSP00000439470:R58Q	ENSP00000262805:R257Q	R	-	2	0	PDE4C	18191144	1.000000	0.71417	0.991000	0.47740	0.118000	0.20060	4.475000	0.60210	0.657000	0.30906	-0.657000	0.03884	CGG	C|0.982;T|0.018	0.018	strong		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18330144	C	T	18330144	3	4	22	1	0	0	0	0	1	0	0	0	11641	652	23	1	1304	1	PDE4C	19	18330144	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42075	18330144	40798839	9682	14790										
KIAA1683	80726	hgsc.bcm.edu	37	chr19	18368524	18368524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctgcccagctccacccaCgtgacggggtggagcatctg	14	15	1	1	rs61740686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18368524C>T	ENST00000600328.3	-	4	3202	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T	KIAA1683_ENST00000600359.3_Silent_p.T957T|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.T1190T|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1003						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTCCACCCACGTGACGGGGT	0.662													C|||	170	0.0339457	0.1248	0.0072	5008	,	,		15480	0.0		0.0	False		,,,				2504	0.0				p.T1190T		Atlas-SNP	.											.	KIAA1683	190	.	0			c.G3570A						PASS	.	C	,,	427,3903		12,403,1750	23	30	28		3570,2871,3009	-2.8	0	19	dbSNP_129	28	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	12,403,5984	TT,TC,CC		0.0,9.8614,3.3365	,,	1190/1368,957/1135,1003/1181	18368524	427,12371	2165	4234	6399	SO:0001819	synonymous_variant	80726	exon4			CACCCACGTGACG	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3009G>A	19.37:g.18368524C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	95	93	0.978947	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	CCDS32958.1																																																																																			C|0.964;T|0.036	0.036	strong		0.662	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			T	18368524	C	T	18368524	2	4	22	1	0	0	0	0	0	0	0	1	8251	523	19	1		1	KIAA1683	19	18368524	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38380	18368524	40760459	9683	14791										
KIAA1683	80726	hgsc.bcm.edu	37	chr19	18368748	18368748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcctggatagtgatcactgCgaggatgcggatctcctctg	13	11	3	1	rs61740685		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18368748C>T	ENST00000600328.3	-	4	2978	c.2785G>A	c.(2785-2787)Gca>Aca	p.A929T	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1116T|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A883T|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	929	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGATCACTGCGAGGATGCGG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		16152	0.0		0.001	False		,,,				2504	0.0				p.A1116T		Atlas-SNP	.											.	KIAA1683	190	.	0			c.G3346A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	1,4401	2.1+/-5.4	0,1,2200	58	57	57		3346,2647,2785	3.5	0	19	dbSNP_129	57	6,8590	5.0+/-18.6	0,6,4292	yes	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	58,58,58	0,7,6492	TT,TC,CC		0.0698,0.0227,0.0539	probably-damaging,probably-damaging,probably-damaging	1116/1368,883/1135,929/1181	18368748	7,12991	2201	4298	6499	SO:0001583	missense	80726	exon4			TCACTGCGAGGAT	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2785G>A	19.37:g.18368748C>T	ENSP00000470780:p.Ala929Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	84	40	0.47619	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.27	3.587572	0.66105	2.27E-4	6.98E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.46819	0.86;0.86;0.86	3.5	3.5	0.40072	.	0.000000	0.32671	N	0.005798	T	0.67373	0.2886	M	0.83603	2.65	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	T	0.57877	-0.7735	10	0.51188	T	0.08	-16.8658	10.7032	0.45939	0.0:1.0:0.0:0.0	.	1116;929	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	1116;929;883;193;543	ENSP00000376213:A1116T;ENSP00000352774:A929T;ENSP00000404501:A883T	ENSP00000352774:A929T	A	-	1	0	KIAA1683	18229748	0.809000	0.29036	0.021000	0.16686	0.006000	0.05464	3.249000	0.51437	1.971000	0.57363	0.313000	0.20887	GCA	C|0.999;T|0.001	0.001	strong		0.677	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			T	18368748	C	T	18368748	3	4	22	1	0	0	0	0	1	0	0	0	8251	768	27	1	761	1	KIAA1683	19	18368748	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	224	18368748	40760235	9684	14792										
KIAA1683	80726	hgsc.bcm.edu	37	chr19	18376509	18376509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaatgccatgtctgttttcGcctgtttctgggtgccagtc	10	10	2	0	rs16982285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18376509G>A	ENST00000600328.3	-	3	2034	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A568V|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A614V			Q9H0B3	K1683_HUMAN	KIAA1683	614			A -> V (in dbSNP:rs16982285).			mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCTGTTTTCGCCTGTTTCTG	0.562													A|||	738	0.147364	0.4297	0.1282	5008	,	,		20460	0.0129		0.0288	False		,,,				2504	0.0399				p.A614V		Atlas-SNP	.											KIAA1683_ENST00000392413,colon,carcinoma,0,2	KIAA1683	190	2	0			c.C1841T						PASS	.	A	VAL/ALA,VAL/ALA,VAL/ALA	1675,2731	654.3+/-399.7	321,1033,849	59	64	62		1841,1703,1841	-7.1	0	19	dbSNP_123	62	231,8369	808.4+/-407.2	4,223,4073	yes	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	64,64,64	325,1256,4922	AA,AG,GG		2.686,38.0163,14.6548	benign,benign,benign	614/1368,568/1135,614/1181	18376509	1906,11100	2203	4300	6503	SO:0001583	missense	80726	exon3			GTTTTCGCCTGTT	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1841C>T	19.37:g.18376509G>A	ENSP00000470780:p.Ala614Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	149	66	0.442953	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	278	0.12728937728937728	213	0.4329268292682927	48	0.13259668508287292	1	0.0017482517482517483	16	0.021108179419525065	A	1.743	-0.491261	0.04322	0.380163	0.02686	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03717	3.9;3.9;3.83	3.81	-7.09	0.01553	.	3.072470	0.01420	N	0.014343	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48502	-0.9030	9	0.20046	T	0.44	-0.0309	4.2064	0.10490	0.1471:0.3414:0.3989:0.1126	rs16982285;rs16982285	614;614	E9PDE0;Q9H0B3	.;K1683_HUMAN	V	614;614;568	ENSP00000376213:A614V;ENSP00000352774:A614V;ENSP00000404501:A568V	ENSP00000352774:A614V	A	-	2	0	KIAA1683	18237509	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.555000	0.05999	-2.263000	0.00689	-2.747000	0.00125	GCG	G|0.854;A|0.146	0.146	strong		0.562	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			A	18376509	G	A	18376509	3	1	22	1	0	0	0	0	1	0	0	0	8251	1087	38	1	2270	1	KIAA1683	19	18376509	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7761	18376509	40752474	9685	14793										
KIAA1683	80726	hgsc.bcm.edu	37	chr19	18376780	18376780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccttgacatttgccactgTtggagaggccagacacagag	12	10	0	4	rs12462974	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18376780T>C	ENST00000600328.3	-	3	1763	c.1570A>G	c.(1570-1572)Aca>Gca	p.T524A	KIAA1683_ENST00000600359.3_Missense_Mutation_p.T478A|KIAA1683_ENST00000392413.4_Missense_Mutation_p.T524A			Q9H0B3	K1683_HUMAN	KIAA1683	524			T -> A (in dbSNP:rs12462974).			mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTGCCACTGTTGGAGAGGCC	0.617													T|||	738	0.147364	0.4297	0.1282	5008	,	,		17239	0.0129		0.0288	False		,,,				2504	0.0399				p.T524A		Atlas-SNP	.											.	KIAA1683	190	.	0			c.A1570G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR	1674,2732	510.1+/-367.4	321,1032,850	74	68	70		1570,1432,1570	-7.2	0	19	dbSNP_120	70	231,8369	95.6+/-157.4	4,223,4073	yes	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	58,58,58	325,1255,4923	CC,CT,TT		2.686,37.9936,14.6471	benign,benign,benign	524/1368,478/1135,524/1181	18376780	1905,11101	2203	4300	6503	SO:0001583	missense	80726	exon3			CCACTGTTGGAGA	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1570A>G	19.37:g.18376780T>C	ENSP00000470780:p.Thr524Ala	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	153	83	0.542484	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	278	0.12728937728937728	213	0.4329268292682927	48	0.13259668508287292	1	0.0017482517482517483	16	0.021108179419525065	T	0.160	-1.082165	0.01888	0.379936	0.02686	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03242	4.07;4.08;4.0	3.97	-7.21	0.01490	.	1.083510	0.07343	N	0.881096	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47686	-0.9098	9	0.02654	T	1	-2.4415	0.3148	0.00294	0.2788:0.2233:0.1381:0.3598	rs12462974;rs12462974	524;524	E9PDE0;Q9H0B3	.;K1683_HUMAN	A	524;524;478	ENSP00000376213:T524A;ENSP00000352774:T524A;ENSP00000404501:T478A	ENSP00000352774:T524A	T	-	1	0	KIAA1683	18237780	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.232000	0.09055	-1.289000	0.02375	-0.337000	0.08149	ACA	T|0.861;C|0.139	0.139	strong		0.617	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			C	18376780	T	C	18376780	3	2	22	1	0	0	0	0	1	0	0	0	8251	1725	60	2	2541	2	KIAA1683	19	18376780	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	271	18376780	40752203	9686	14794										
LSM4	25804	hgsc.bcm.edu	37	chr19	18420501	18420501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacccacctcggccagcgccGcccatgccgcggcctttctg	11	20	1	0	rs148380214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18420501G>A	ENST00000593829.1	-	4	568	c.315C>T	c.(313-315)ggC>ggT	p.G105G	LSM4_ENST00000252816.6_Silent_p.G91G	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	105					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						GGCCAGCGCCGCCCATGCCGC	0.682													g|||	9	0.00179712	0.0068	0.0	5008	,	,		16325	0.0		0.0	False		,,,				2504	0.0				p.G105G		Atlas-SNP	.											.	LSM4	15	.	0			c.C315T						PASS	.			37,4365		0,37,2164	29	28	28		315	-3.1	1	19	dbSNP_134	28	0,8596		0,0,4298	no	coding-synonymous	LSM4	NM_012321.3		0,37,6462	AA,AG,GG		0.0,0.8405,0.2847		105/140	18420501	37,12961	2201	4298	6499	SO:0001819	synonymous_variant	25804	exon4			AGCGCCGCCCATG	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.315C>T	19.37:g.18420501G>A		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	35	26	0.742857	NM_012321		Silent	SNP	ENST00000593829.1	37	CCDS12374.1																																																																																			G|0.997;A|0.003	0.003	strong		0.682	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			A	18420501	G	A	18420501	2	1	22	1	0	0	0	0	0	0	0	1	9058	1074	38	1		1	LSM4	19	18420501	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43721	18420501	40708482	9687	14795										
GDF15	9518	hgsc.bcm.edu	37	chr19	18499151	18499151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctctcgggccgcccttccCgaggggctccccgaggcctc	12	19	1	0	rs1059022	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18499151C>T	ENST00000252809.3	+	2	365	c.333C>T	c.(331-333)ccC>ccT	p.P111P	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	111					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CCGCCCTTCCCGAGGGGCTCC	0.701											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	863	0.172324	0.3601	0.1556	5008	,	,		12390	0.0069		0.175	False		,,,				2504	0.0982				p.P111P		Atlas-SNP	.											GDF15,NS,carcinoma,0,1	GDF15	31	1	0			c.C333T						PASS	.	C		1414,2934		255,904,1015	17	21	19		333	-8.6	0	19	dbSNP_86	19	1497,7063		143,1211,2926	no	coding-synonymous	GDF15	NM_004864.2		398,2115,3941	TT,TC,CC		17.4883,32.5207,22.5519		111/309	18499151	2911,9997	2174	4280	6454	SO:0001819	synonymous_variant	9518	exon2			CCTTCCCGAGGGG	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.333C>T	19.37:g.18499151C>T		Somatic	92	0	0	726	WXS	Illumina HiSeq	Phase_I	129	62	0.48062	NM_004864	O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																			C|0.799;T|0.201	0.201	strong		0.701	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		T	18499151	C	T	18499151	2	4	22	1	0	0	0	0	0	0	0	1	6313	639	23	1		1	GDF15	19	18499151	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78650	18499151	40629832	9688	14796										
SSBP4	170463	hgsc.bcm.edu	37	chr19	18542201	18542201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtccccccacaaccccaaCgcccccatgatggggcctca	7	22	1	1	rs113198578	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18542201C>T	ENST00000270061.7	+	6	702	c.408C>T	c.(406-408)aaC>aaT	p.N136N	SSBP4_ENST00000348495.6_Intron|SSBP4_ENST00000598159.2_Intron|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	136	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						ACAACCCCAACGCCCCCATGA	0.697													C|||	148	0.0295527	0.0968	0.0159	5008	,	,		7118	0.0		0.0089	False		,,,				2504	0.0				p.N136N		Atlas-SNP	.											SSBP4,NS,neuroblastoma,0,1	SSBP4	19	1	0			c.C408T						PASS	.	C	,	349,3959		14,321,1819	10	10	10		,408	1	0	19	dbSNP_132	10	52,8436		0,52,4192	no	intron,coding-synonymous	SSBP4	NM_001009998.3,NM_032627.4	,	14,373,6011	TT,TC,CC		0.6126,8.1012,3.1338	,	,136/386	18542201	401,12395	2154	4244	6398	SO:0001819	synonymous_variant	170463	exon6			CCCCAACGCCCCC		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.408C>T	19.37:g.18542201C>T		Somatic	367	0	0		WXS	Illumina HiSeq	Phase_I	425	236	0.555294	NM_032627	Q9BWW5	Silent	SNP	ENST00000270061.7	37	CCDS12378.1																																																																																			C|0.976;T|0.024	0.024	strong		0.697	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		T	18542201	C	T	18542201	2	4	22	1	0	0	0	0	0	0	0	1	15181	535	19	1		1	SSBP4	19	18542201	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43050	18542201	40586782	9689	14797										
ISYNA1	51477	hgsc.bcm.edu	37	chr19	18547209	18547209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcacagaagcgctccgtGttcgccgtccacagcactat	8	16	1	1	rs61743954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18547209G>A	ENST00000338128.8	-	6	907	c.690C>T	c.(688-690)aaC>aaT	p.N230N	ISYNA1_ENST00000317018.6_Silent_p.N28N|ISYNA1_ENST00000457269.4_Silent_p.N176N|ISYNA1_ENST00000578963.1_Silent_p.N102N|ISYNA1_ENST00000545187.1_Silent_p.N80N	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	230					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AGCGCTCCGTGTTCGCCGTCC	0.632																																					p.N230N		Atlas-SNP	.											.	ISYNA1	31	.	0			c.C690T						PASS	.	G	,,	205,4201	129.8+/-166.5	5,195,2003	104	93	97		528,240,690	1.6	0.5	19	dbSNP_129	97	54,8546	34.8+/-89.0	0,54,4246	no	coding-synonymous,coding-synonymous,coding-synonymous	ISYNA1	NM_001170938.1,NM_001170939.1,NM_016368.4	,,	5,249,6249	AA,AG,GG		0.6279,4.6527,1.9914	,,	176/505,80/409,230/559	18547209	259,12747	2203	4300	6503	SO:0001819	synonymous_variant	51477	exon6			CTCCGTGTTCGCC		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.690C>T	19.37:g.18547209G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	36	12	0.333333	NM_016368	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			G|0.982;A|0.018	0.018	strong		0.632	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		A	18547209	G	A	18547209	2	1	22	1	0	0	0	0	0	0	0	1	7867	1368	48	2		2	ISYNA1	19	18547209	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5008	18547209	40581774	9690	14798										
ELL	8178	hgsc.bcm.edu	37	chr19	18561420	18561420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttcttgggcttgctgcgCgaggggctgccgtgtggcct	16	11	2	0	rs34078075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18561420C>T	ENST00000262809.4	-	8	1403	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	ELL_ENST00000596124.3_Silent_p.S311S	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	444					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCTTGCTGCGCGAGGGGCTGC	0.687			T	MLL	AL								C|||	107	0.0213658	0.0681	0.0144	5008	,	,		14591	0.0		0.007	False		,,,				2504	0.0				p.S444S		Atlas-SNP	.		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	ELL	52	.	0			c.G1332A						PASS	.	C		273,4131		5,263,1934	35	21	26		1332	-5.8	0	19	dbSNP_126	26	55,8539		0,55,4242	no	coding-synonymous	ELL	NM_006532.3		5,318,6176	TT,TC,CC		0.64,6.1989,2.5235		444/622	18561420	328,12670	2202	4297	6499	SO:0001819	synonymous_variant	8178	exon8			GCTGCGCGAGGGG	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1332G>A	19.37:g.18561420C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	266	134	0.503759	NM_006532		Silent	SNP	ENST00000262809.4	37	CCDS12380.1																																																																																			C|0.976;T|0.024	0.024	strong		0.687	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		T	18561420	C	T	18561420	2	4	22	1	0	0	0	0	0	0	0	1	5062	755	27	1		1	ELL	19	18561420	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14211	18561420	40567563	9691	14799										
ELL	8178	hgsc.bcm.edu	37	chr19	18561473	18561473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtccgtcagcaggggcaGgccgaggcgcacagtggggg	19	11	1	0	rs34868531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18561473G>A	ENST00000262809.4	-	8	1350	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	ELL_ENST00000596124.3_Silent_p.L294L	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	427					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGCAGGGGCAGGCCGAGGCGC	0.677			T	MLL	AL								G|||	107	0.0213658	0.0681	0.0144	5008	,	,		12206	0.0		0.007	False		,,,				2504	0.0				p.L427L		Atlas-SNP	.		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	ELL	52	.	0			c.C1279T						PASS	.	G		212,4120		2,208,1956	19	11	14		1279	-0.1	0	19	dbSNP_126	14	45,8491		0,45,4223	no	coding-synonymous	ELL	NM_006532.3		2,253,6179	AA,AG,GG		0.5272,4.8938,1.9972		427/622	18561473	257,12611	2166	4268	6434	SO:0001819	synonymous_variant	8178	exon8			GGGGCAGGCCGAG	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1279C>T	19.37:g.18561473G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	106	58	0.54717	NM_006532		Silent	SNP	ENST00000262809.4	37	CCDS12380.1																																																																																			G|0.980;A|0.020	0.020	strong		0.677	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		A	18561473	G	A	18561473	2	1	22	1	0	0	0	0	0	0	0	1	5062	991	35	2		2	ELL	19	18561473	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53	18561473	40567510	9692	14800										
FKBP8	23770	hgsc.bcm.edu	37	chr19	18652521	18652521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccactcttctggggccgggGctggggcgggctcgggctcc	19	14	2	0	rs11574806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18652521G>A	ENST00000596558.2	-	2	369	c.260C>T	c.(259-261)gCc>gTc	p.A87V	FKBP8_ENST00000608443.1_Missense_Mutation_p.A87V|FKBP8_ENST00000597960.3_Missense_Mutation_p.A87V|FKBP8_ENST00000453489.2_Missense_Mutation_p.A116V|FKBP8_ENST00000610101.1_Missense_Mutation_p.A87V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A87V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	87	Glu-rich.		A -> V (in dbSNP:rs11574806).		apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGGGGCCGGGGCTGGGGCGGG	0.687													G|||	492	0.0982428	0.3495	0.0317	5008	,	,		15475	0.0		0.008	False		,,,				2504	0.0				p.A87V		Atlas-SNP	.											.	FKBP8	69	.	0			c.C260T						PASS	.	G	VAL/ALA	1254,3140		180,894,1123	21	27	25		260	-0.5	0	19	dbSNP_120	25	63,8527		1,61,4233	yes	missense	FKBP8	NM_012181.3	64	181,955,5356	AA,AG,GG		0.7334,28.5389,10.1433	possibly-damaging	87/414	18652521	1317,11667	2197	4295	6492	SO:0001583	missense	23770	exon2			GCCGGGGCTGGGG	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.260C>T	19.37:g.18652521G>A	ENSP00000472302:p.Ala87Val	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	197	103	0.522843	NM_012181	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		177	0.08104395604395605	158	0.32113821138211385	11	0.03038674033149171	0	0.0	8	0.010554089709762533	G	8.232	0.804782	0.16467	0.285389	0.007334	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.37752	1.18;1.71;1.42	3.54	-0.469	0.12142	.	0.537430	0.17884	N	0.158757	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.16166	0.016;0.005;0.008	B;B;B	0.12156	0.007;0.001;0.002	T	0.45440	-0.9261	9	0.28530	T	0.3	-7.3641	8.5767	0.33603	0.0:0.0:0.3907:0.6093	rs11574806;rs11574806	116;87;87	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	V	87;87;116	ENSP00000222308:A87V;ENSP00000441267:A87V;ENSP00000388891:A116V	ENSP00000222308:A87V	A	-	2	0	FKBP8	18513521	0.879000	0.30193	0.030000	0.17652	0.242000	0.25591	2.151000	0.42263	0.263000	0.21812	0.491000	0.48974	GCC	G|0.907;A|0.093	0.093	strong		0.687	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		A	18652521	G	A	18652521	3	1	22	1	0	0	0	0	1	0	0	0	5914	1203	42	2	1013	2	FKBP8	19	18652521	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91048	18652521	40476462	9693	14801										
C19orf50	79036	hgsc.bcm.edu	37	chr19	18679351	18679351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctcgccctccctgagcccCggcttcgaggacctgtccca	10	19	1	1	rs11086117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18679351C>T	ENST00000602094.1	+	5	1901	c.441C>T	c.(439-441)ccC>ccT	p.P147P	KXD1_ENST00000222307.4_Silent_p.P147P|KXD1_ENST00000539106.1_Silent_p.P147P|KXD1_ENST00000599319.1_Silent_p.P147P|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.P147P|KXD1_ENST00000595073.1_Silent_p.P147P|KXD1_ENST00000601630.1_Silent_p.P166P			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	147					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											CCCTGAGCCCCGGCTTCGAGG	0.657													C|||	719	0.14357	0.4856	0.0504	5008	,	,		16847	0.001		0.0318	False		,,,				2504	0.0092				p.P147P		Atlas-SNP	.											.	.	.	.	0			c.C441T						PASS	.	C	,,	1848,2558	538.4+/-375.0	399,1050,754	151	138	143		441,441,441	-9.8	0.1	19	dbSNP_120	143	272,8328	103.3+/-164.5	8,256,4036	no	coding-synonymous,coding-synonymous,coding-synonymous	C19orf50	NM_001171948.1,NM_001171949.1,NM_024069.3	,,	407,1306,4790	TT,TC,CC		3.1628,41.9428,16.3002	,,	147/177,147/177,147/177	18679351	2120,10886	2203	4300	6503	SO:0001819	synonymous_variant	79036	exon6			GAGCCCCGGCTTC	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"chromosome 19 open reading frame 50"	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.441C>T	19.37:g.18679351C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_001171948	O76098	Silent	SNP	ENST00000602094.1	37	CCDS12381.1																																																																																			A|0.000;C|0.852;G|0.000;T|0.148	0.148	strong		0.657	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		T	18679351	C	T	18679351	2	4	22	1	0	0	0	0	0	0	0	1	1932	639	23	1		1	C19orf50	19	18679351	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26830	18679351	40449632	9694	14802										
KLHL26	55295	hgsc.bcm.edu	37	chr19	18778879	18778879	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagagctgtgccgagatCgacctgttccgcgcggccgt	14	14	0	2	rs79044993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18778879C>T	ENST00000300976.4	+	3	762	c.672C>T	c.(670-672)atC>atT	p.I224I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	224	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGCCGAGATCGACCTGTTCC	0.677													C|||	49	0.00978435	0.034	0.0043	5008	,	,		14950	0.0		0.001	False		,,,				2504	0.0				p.I224I		Atlas-SNP	.											.	KLHL26	43	.	0			c.C672T						PASS	.	C		121,4285	89.2+/-127.9	1,119,2083	38	38	38		672	-8.3	0.9	19	dbSNP_131	38	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	KLHL26	NM_018316.1		1,123,6377	TT,TC,CC		0.0465,2.7463,0.9614		224/616	18778879	125,12877	2203	4298	6501	SO:0001819	synonymous_variant	55295	exon3			CGAGATCGACCTG		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.672C>T	19.37:g.18778879C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_018316	Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	CCDS12384.1																																																																																			C|0.988;T|0.012	0.012	strong		0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		T	18778879	C	T	18778879	2	4	22	1	0	0	0	0	0	0	0	1	8381	874	31	1		1	KLHL26	19	18778879	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99528	18778879	40350104	9695	14803										
KLHL26	55295	hgsc.bcm.edu	37	chr19	18779728	18779728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgccatggtgggtgccggCggccgcatctatgccctcgg	15	15	1	0	rs73533829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18779728C>T	ENST00000300976.4	+	3	1611	c.1521C>T	c.(1519-1521)ggC>ggT	p.G507G	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	507										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGGTGCCGGCGGCCGCATCT	0.667													C|||	49	0.00978435	0.034	0.0043	5008	,	,		14368	0.0		0.001	False		,,,				2504	0.0				p.G507G		Atlas-SNP	.											.	KLHL26	43	.	0			c.C1521T						PASS	.	C		121,4283		1,119,2082	37	38	37		1521	-6	0.1	19	dbSNP_130	37	4,8576		0,4,4286	no	coding-synonymous	KLHL26	NM_018316.1		1,123,6368	TT,TC,CC		0.0466,2.7475,0.9627		507/616	18779728	125,12859	2202	4290	6492	SO:0001819	synonymous_variant	55295	exon3			TGCCGGCGGCCGC		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1521C>T	19.37:g.18779728C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	36	18	0.5	NM_018316	Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	CCDS12384.1																																																																																			C|0.988;T|0.012	0.012	strong		0.667	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		T	18779728	C	T	18779728	2	4	22	1	0	0	0	0	0	0	0	1	8381	755	27	1		1	KLHL26	19	18779728	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	849	18779728	40349255	9696	14804										
UPF1	5976	hgsc.bcm.edu	37	chr19	18958562	18958562	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgattttttagttactgtggAatacacgatcctgcctgcgt	9	8	0	1	rs73526913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:18958562A>T	ENST00000599848.1	+	3	590	c.381A>T	c.(379-381)ggA>ggT	p.G127G	UPF1_ENST00000262803.5_Silent_p.G127G			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	127	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTTACTGTGGAATACACGATC	0.428											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	43	0.00858626	0.0318	0.0014	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0				p.G127G		Atlas-SNP	.											.	UPF1	88	.	0			c.A381T						PASS	.	A		130,4276	95.7+/-134.4	3,124,2076	128	120	123		381	-7.9	0.8	19	dbSNP_130	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UPF1	NM_002911.3		3,125,6375	TT,TA,AA		0.0116,2.9505,1.0072		127/1119	18958562	131,12875	2203	4300	6503	SO:0001819	synonymous_variant	5976	exon3			CTGTGGAATACAC	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.381A>T	19.37:g.18958562A>T		Somatic	146	0	0	729	WXS	Illumina HiSeq	Phase_I	150	70	0.466667	NM_002911	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																				A|0.991;T|0.009	0.009	strong		0.428	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		T	18958562	A	T	18958562	2	4	22	1	0	0	0	0	0	0	0	1	17000	233	9	5		5	UPF1	19	18958562	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	178834	18958562	40170421	9697	14805										
COPE	11316	hgsc.bcm.edu	37	chr19	19017862	19017862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggccatgagcaggaaggtgGtgttggtcacgtccacgctc	15	11	1	1	rs10330	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19017862G>A	ENST00000262812.4	-	4	398	c.350C>T	c.(349-351)aCc>aTc	p.T117I	COPE_ENST00000351079.4_Intron|COPE_ENST00000600932.1_Missense_Mutation_p.T117I|COPE_ENST00000598969.1_Intron|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.T117I	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	117			T -> I (in dbSNP:rs10330). {ECO:0000269|PubMed:10469566, ECO:0000269|PubMed:14702039}.		COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGGAAGGTGGTGTTGGTCAC	0.647													G|||	1041	0.207867	0.413	0.1239	5008	,	,		18826	0.0754		0.1332	False		,,,				2504	0.2035				p.T117I		Atlas-SNP	.											.	COPE	26	.	0			c.C350T						PASS	.	G	ILE/THR,,ILE/THR	1575,2829	456.9+/-351.5	267,1041,894	130	72	92		350,,350	4.8	1	19	dbSNP_52	92	1004,7594	203.2+/-246.3	60,884,3355	yes	missense,intron,missense	COPE	NM_007263.3,NM_199442.1,NM_199444.1	89,,89	327,1925,4249	AA,AG,GG		11.6771,35.7629,19.8354	benign,,benign	117/309,,117/257	19017862	2579,10423	2202	4299	6501	SO:0001583	missense	11316	exon4			AAGGTGGTGTTGG	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.350C>T	19.37:g.19017862G>A	ENSP00000262812:p.Thr117Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	105	59	0.561905	NM_007263	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	ENST00000262812.4	37	CCDS12387.1	400	0.18315018315018314	194	0.3943089430894309	52	0.143646408839779	57	0.09965034965034965	97	0.1279683377308707	G	14.17	2.455055	0.43634	0.357629	0.116771	ENSG00000105669	ENST00000262812;ENST00000349893;ENST00000538245	T;T	0.44881	0.91;2.33	4.76	4.76	0.60689	Tetratricopeptide-like helical (1);	0.050875	0.85682	D	0.000000	T	0.00012	0.0000	L	0.57536	1.79	0.09310	P	0.99999572547	B;B;P	0.36660	0.408;0.31;0.564	B;B;B	0.32090	0.09;0.14;0.09	T	0.45145	-0.9281	9	0.30854	T	0.27	-56.6019	16.3456	0.83132	0.0:0.0:1.0:0.0	rs10330;rs1044168;rs3177139;rs59201994;rs10330	117;117;117	Q53HJ6;A6NE29;O14579	.;.;COPE_HUMAN	I	117;117;116	ENSP00000262812:T117I;ENSP00000343134:T117I	ENSP00000262812:T117I	T	-	2	0	COPE	18878862	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.207000	0.65197	2.190000	0.69967	0.561000	0.74099	ACC	G|0.804;A|0.196	0.196	strong		0.647	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		A	19017862	G	A	19017862	3	1	22	1	0	0	0	0	1	0	0	0	3730	1261	44	2	604	2	COPE	19	19017862	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59300	19017862	40111121	9698	14806										
COPE	11316	hgsc.bcm.edu	37	chr19	19030120	19030120	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctcgtctacctccccgGagccgccggaggccgggccg	14	18	1	0	rs2231987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19030120G>C	ENST00000262812.4	-	1	86	c.38C>G	c.(37-39)tCc>tGc	p.S13C	DDX49_ENST00000247003.4_5'Flank|COPE_ENST00000351079.4_Missense_Mutation_p.S13C|COPE_ENST00000600932.1_Missense_Mutation_p.S13C|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'Flank|COPE_ENST00000349893.4_Missense_Mutation_p.S13C	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	13			S -> C (in dbSNP:rs2231987).		COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TACCTCCCCGGAGCCGCCGGA	0.652													G|||	357	0.0712859	0.2526	0.0259	5008	,	,		12900	0.0		0.005	False		,,,				2504	0.0				p.S13C		Atlas-SNP	.											.	COPE	26	.	0			c.C38G						PASS	.	G	CYS/SER,CYS/SER,CYS/SER	1007,3399	349.3+/-310.3	111,785,1307	34	38	37		38,38,38	5.7	1	19	dbSNP_98	37	16,8584	11.2+/-40.8	0,16,4284	yes	missense,missense,missense	COPE	NM_007263.3,NM_199442.1,NM_199444.1	112,112,112	111,801,5591	CC,CG,GG		0.186,22.8552,7.8656	possibly-damaging,possibly-damaging,possibly-damaging	13/309,13/258,13/257	19030120	1023,11983	2203	4300	6503	SO:0001583	missense	11316	exon1			TCCCCGGAGCCGC	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.38C>G	19.37:g.19030120G>C	ENSP00000262812:p.Ser13Cys	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_007263	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	ENST00000262812.4	37	CCDS12387.1	140	0.0641025641025641	131	0.266260162601626	7	0.019337016574585635	0	0.0	2	0.002638522427440633	G	18.45	3.626301	0.66901	0.228552	0.00186	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.48201	1.4;0.82;1.42	5.66	5.66	0.87406	.	0.314966	0.32002	N	0.006726	T	0.00012	0.0000	N	0.08118	0	0.32799	P	0.500166	P;P;P;P	0.51653	0.947;0.454;0.454;0.876	B;B;B;B	0.43916	0.436;0.319;0.319;0.319	T	0.16660	-1.0395	9	0.54805	T	0.06	-26.4078	18.3234	0.90246	0.0:0.0:1.0:0.0	rs2231987	13;13;13;13	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	C	13;13;13;12	ENSP00000262812:S13C;ENSP00000345674:S13C;ENSP00000343134:S13C	ENSP00000262812:S13C	S	-	2	0	COPE	18891120	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	5.416000	0.66417	2.679000	0.91253	0.563000	0.77884	TCC	G|0.928;C|0.072	0.072	strong		0.652	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		C	19030120	G	C	19030120	3	2	22	1	0	0	0	0	1	0	0	0	3730	1174	41	4	928	4	COPE	19	19030120	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12258	19030120	40098863	9699	14807										
DDX49	54555	hgsc.bcm.edu	37	chr19	19035080	19035080	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgatgctgcgcaaattcaGcttccccaccgtggctctgc	9	15	2	1	rs143159618		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19035080G>C	ENST00000247003.4	+	7	882	c.815G>C	c.(814-816)aGc>aCc	p.S272T	DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_Missense_Mutation_p.S165T	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CGCAAATTCAGCTTCCCCACC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.0				p.S272T		Atlas-SNP	.											.	DDX49	37	.	0			c.G815C						PASS	.	G	THR/SER	6,4400	11.4+/-27.6	0,6,2197	122	71	88		815	-2.3	0.8	19	dbSNP_134	88	0,8600		0,0,4300	no	missense	DDX49	NM_019070.4	58	0,6,6497	CC,CG,GG		0.0,0.1362,0.0461	benign	272/484	19035080	6,13000	2203	4300	6503	SO:0001583	missense	54555	exon7			AATTCAGCTTCCC		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.815G>C	19.37:g.19035080G>C	ENSP00000247003:p.Ser272Thr	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	231	99	0.428571	NM_019070	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320348	0.41096	0.001362	0.0	ENSG00000105671	ENST00000247003;ENST00000438170	T;T	0.04862	3.54;3.54	5.03	-2.29	0.06805	Helicase, C-terminal (3);	0.775582	0.12437	N	0.469041	T	0.05410	0.0143	N	0.19112	0.55	0.24060	N	0.996013	B;B	0.06786	0.001;0.001	B;B	0.19946	0.027;0.027	T	0.29119	-1.0022	10	0.72032	D	0.01	-7.7016	15.0157	0.71581	0.3142:0.0:0.6858:0.0	.	272;272	A8K7A1;Q9Y6V7	.;DDX49_HUMAN	T	272;165	ENSP00000247003:S272T;ENSP00000395377:S165T	ENSP00000247003:S272T	S	+	2	0	DDX49	18896080	0.161000	0.22892	0.824000	0.32777	0.934000	0.57294	0.102000	0.15272	-1.026000	0.03330	-0.339000	0.08088	AGC	G|1.000;C|0.000	0.000	weak		0.617	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070		C	19035080	G	C	19035080	3	2	22	1	0	0	0	0	1	0	0	0	4366	971	34	4	841	4	DDX49	19	19035080	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4960	19035080	40093903	9700	14808										
SLC25A42	284439	hgsc.bcm.edu	37	chr19	19217081	19217081	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctgccctgttcagagcCctgcccccttggcctcgcct	8	21	1	1	rs61740506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19217081C>A	ENST00000318596.7	+	6	535	c.384C>A	c.(382-384)gcC>gcA	p.A128A	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	128					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGTTCAGAGCCCTGCCCCCTT	0.682													C|||	113	0.0225639	0.0749	0.0072	5008	,	,		14862	0.0		0.005	False		,,,				2504	0.0041				p.A128A		Atlas-SNP	.											.	SLC25A42	18	.	0			c.C384A						PASS	.	C		360,4046	184.0+/-211.4	12,336,1855	80	85	83		384	0.3	1	19	dbSNP_129	83	34,8566	23.4+/-69.3	0,34,4266	no	coding-synonymous	SLC25A42	NM_178526.3		12,370,6121	AA,AC,CC		0.3953,8.1707,3.0294		128/319	19217081	394,12612	2203	4300	6503	SO:0001819	synonymous_variant	284439	exon6			CAGAGCCCTGCCC		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.384C>A	19.37:g.19217081C>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	91	43	0.472527	NM_178526	D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	CCDS32966.1																																																																																			C|0.976;A|0.024	0.024	strong		0.682	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		A	19217081	C	A	19217081	2	1	22	1	0	0	0	0	0	0	0	1	14507	610	22	4		4	SLC25A42	19	19217081	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	182001	19217081	39911902	9701	14809										
NCAN	1463	hgsc.bcm.edu	37	chr19	19338942	19338942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagtcacgccggcccccaGtgatgctagtggaatttggg	13	12	1	1	rs10426537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19338942G>A	ENST00000252575.6	+	8	2612	c.2513G>A	c.(2512-2514)aGt>aAt	p.S838N	NCAN_ENST00000538881.1_Missense_Mutation_p.S289N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	838					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCGGCCCCCAGTGATGCTAGT	0.537													G|||	197	0.0393371	0.0885	0.0043	5008	,	,		17947	0.0526		0.001	False		,,,				2504	0.0235				p.S838N		Atlas-SNP	.											.	NCAN	277	.	0			c.G2513A						PASS	.	G	ASN/SER	325,4081	171.6+/-201.8	10,305,1888	55	57	56		2513	0.2	0	19	dbSNP_119	56	4,8596	3.0+/-9.4	0,4,4296	yes	missense	NCAN	NM_004386.2	46	10,309,6184	AA,AG,GG		0.0465,7.3763,2.5296	probably-damaging	838/1322	19338942	329,12677	2203	4300	6503	SO:0001583	missense	1463	exon8			CCCCCAGTGATGC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2513G>A	19.37:g.19338942G>A	ENSP00000252575:p.Ser838Asn	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	27	0.421875	NM_004386	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	78	0.03571428571428571	42	0.08536585365853659	1	0.0027624309392265192	34	0.05944055944055944	1	0.0013192612137203166	G	13.54	2.268686	0.40095	0.073763	4.65E-4	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.87256	-1.89;-2.23	3.75	0.2	0.15181	.	0.531595	0.16158	N	0.226911	T	0.10035	0.0246	L	0.29908	0.895	0.09310	N	1	P;B	0.37466	0.596;0.244	B;B	0.29267	0.1;0.074	T	0.30327	-0.9982	10	0.46703	T	0.11	.	6.052	0.19790	0.0:0.1739:0.3924:0.4337	rs10426537	852;838	Q4LE67;O14594	.;NCAN_HUMAN	N	852;838;289	ENSP00000252575:S838N;ENSP00000442202:S289N	ENSP00000252575:S838N	S	+	2	0	NCAN	19199942	0.001000	0.12720	0.000000	0.03702	0.823000	0.46562	0.745000	0.26259	0.131000	0.18576	0.491000	0.48974	AGT	G|0.973;A|0.027	0.027	strong		0.537	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19338942	G	A	19338942	3	1	22	1	0	0	0	0	1	0	0	0	10204	1029	36	2	2539	2	NCAN	19	19338942	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	121861	19338942	39790041	9702	14810										
NCAN	1463	hgsc.bcm.edu	37	chr19	19339285	19339285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggggagcctacggtaccGtgggacccctccagcaccct	12	16	1	0	rs10406347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19339285G>A	ENST00000252575.6	+	8	2955	c.2856G>A	c.(2854-2856)ccG>ccA	p.P952P	NCAN_ENST00000538881.1_Silent_p.P403P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	952					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTACGGTACCGTGGGACCCCT	0.642													G|||	197	0.0393371	0.0885	0.0043	5008	,	,		17300	0.0526		0.001	False		,,,				2504	0.0235				p.P952P		Atlas-SNP	.											.	NCAN	277	.	0			c.G2856A						PASS	.	G		325,4081	166.9+/-198.0	9,307,1887	101	104	103		2856	-7.5	0	19	dbSNP_119	103	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	NCAN	NM_004386.2		9,311,6183	AA,AG,GG		0.0465,7.3763,2.5296		952/1322	19339285	329,12677	2203	4300	6503	SO:0001819	synonymous_variant	1463	exon8			GGTACCGTGGGAC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2856G>A	19.37:g.19339285G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_004386	Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																			G|0.970;A|0.030	0.030	strong		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19339285	G	A	19339285	2	1	22	1	0	0	0	0	0	0	0	1	10204	1132	40	1		1	NCAN	19	19339285	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	343	19339285	39789698	9703	14811										
NCAN	1463	hgsc.bcm.edu	37	chr19	19345802	19345802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctgccagacattgatgaCtgcctctgcagcccctgtga	9	14	2	4	rs2228600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19345802C>T	ENST00000252575.6	+	10	3246	c.3147C>T	c.(3145-3147)gaC>gaT	p.D1049D	NCAN_ENST00000538881.1_Silent_p.D500D|RNU6-1028P_ENST00000517164.1_RNA	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1049	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ACATTGATGACTGCCTCTGCA	0.547													C|||	504	0.100639	0.1982	0.0663	5008	,	,		18957	0.0526		0.0288	False		,,,				2504	0.1166				p.D1049D		Atlas-SNP	.											.	NCAN	277	.	0			c.C3147T						PASS	.	C		772,3634	314.7+/-293.7	66,640,1497	143	111	122		3147	3.5	1	19	dbSNP_98	122	289,8311	106.8+/-167.6	3,283,4014	no	coding-synonymous	NCAN	NM_004386.2		69,923,5511	TT,TC,CC		3.3605,17.5216,8.1578		1049/1322	19345802	1061,11945	2203	4300	6503	SO:0001819	synonymous_variant	1463	exon10			TGATGACTGCCTC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3147C>T	19.37:g.19345802C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	119	67	0.563025	NM_004386	Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																			C|0.920;T|0.080	0.080	strong		0.547	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		T	19345802	C	T	19345802	2	4	22	1	0	0	0	0	0	0	0	1	10204	564	20	2		2	NCAN	19	19345802	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6517	19345802	39783181	9704	14812										
TSSK6	51079	hgsc.bcm.edu	37	chr19	19626087	19626087	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaacttgttgacgaagtcCgggggcgctcgccgccggtc	16	12	0	1	rs150432013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19626087C>T	ENST00000507754.4	+	0	0				TSSK6_ENST00000360913.3_Silent_p.P50P|TSSK6_ENST00000585580.3_Silent_p.P50P|NDUFA13_ENST00000503283.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TGACGAAGTCCGGGGGCGCTC	0.617													C|||	18	0.00359425	0.0136	0.0	5008	,	,		15387	0.0		0.0	False		,,,				2504	0.0				p.P50P		Atlas-SNP	.											.	TSSK6	32	.	0			c.G150A						PASS	.	C		42,4364	44.6+/-78.6	0,42,2161	55	51	52		150	-9.9	0.9	19	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	TSSK6	NM_032037.2		0,42,6461	TT,TC,CC		0.0,0.9532,0.3229		50/274	19626087	42,12964	2203	4300	6503	SO:0001631	upstream_gene_variant	83983	exon1			GAAGTCCGGGGGC	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626087C>T	Exception_encountered	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_032037	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	CCDS12404.2																																																																																			C|0.996;T|0.004	0.004	strong		0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19626087	C	T	19626087	1	4	22	0	1	0	0	0	0	0	0	0	16669	639	23	1		1	TSSK6	19	19626087	5'Flank	SNP	C	TCGA-G8-6324-01A-11D-2210-10	280285	19626087	39502896	9705	14813										
CILP2	148113	hgsc.bcm.edu	37	chr19	19654117	19654117	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacggggcccacctggagctGcggggactgcgcccagacca	15	15	0	1	rs7252453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19654117G>C	ENST00000291495.5	+	7	1123	c.1038G>C	c.(1036-1038)ctG>ctC	p.L346L	CILP2_ENST00000586018.1_Silent_p.L352L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	346	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTGGAGCTGCGGGGACTGC	0.652													C|||	1277	0.254992	0.4947	0.2248	5008	,	,		16755	0.0308		0.173	False		,,,				2504	0.2679				p.L346L		Atlas-SNP	.											.	CILP2	84	.	0			c.G1038C						PASS	.	C		1950,2456	604.8+/-390.4	430,1090,683	44	49	47		1038	-9.6	0	19	dbSNP_116	47	1516,7084	738.0+/-407.0	125,1266,2909	no	coding-synonymous	CILP2	NM_153221.2		555,2356,3592	CC,CG,GG		17.6279,44.2578,26.6492		346/1157	19654117	3466,9540	2203	4300	6503	SO:0001819	synonymous_variant	148113	exon7			GGAGCTGCGGGGA	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1038G>C	19.37:g.19654117G>C		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	167	166	0.994012	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	CCDS12405.1																																																																																			G|0.754;C|0.246	0.246	strong		0.652	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		C	19654117	G	C	19654117	2	2	22	1	0	0	0	0	0	0	0	1	3430	1306	46	4		4	CILP2	19	19654117	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28030	19654117	39474866	9706	14814										
CILP2	148113	hgsc.bcm.edu	37	chr19	19655670	19655670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccgcccccggcttctcCgccaacccccgtgcctgggg	12	21	1	0	rs11669558	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19655670C>T	ENST00000291495.5	+	8	2401	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	CILP2_ENST00000586018.1_Silent_p.S778S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	772						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGCTTCTCCGCCAACCCCC	0.701													c|||	586	0.117013	0.177	0.1167	5008	,	,		12706	0.0		0.166	False		,,,				2504	0.1063				p.S772S		Atlas-SNP	.											.	CILP2	84	.	0			c.C2316T						PASS	.	T		623,3431		40,543,1444	9	11	10		2316	-9.3	0.7	19	dbSNP_120	10	1261,7031		94,1073,2979	no	coding-synonymous	CILP2	NM_153221.2		134,1616,4423	TT,TC,CC		15.2074,15.3675,15.26		772/1157	19655670	1884,10462	2027	4146	6173	SO:0001819	synonymous_variant	148113	exon8			CTTCTCCGCCAAC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2316C>T	19.37:g.19655670C>T		Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	12	7	0.583333	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	CCDS12405.1																																																																																			C|0.874;T|0.126	0.126	strong		0.701	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19655670	C	T	19655670	2	4	22	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CILP2	19	19655670	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1553	19655670	39473313	9707	14815										
CILP2	148113	hgsc.bcm.edu	37	chr19	19656615	19656615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgatggttcctctgacggCttctccagagagatgaaggc	12	9	2	5	rs61744761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19656615C>T	ENST00000291495.5	+	8	3346	c.3261C>T	c.(3259-3261)ggC>ggT	p.G1087G	CILP2_ENST00000586018.1_Silent_p.G1093G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1087						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTCTGACGGCTTCTCCAGAG	0.622													C|||	582	0.116214	0.174	0.1167	5008	,	,		14302	0.0		0.166	False		,,,				2504	0.1063				p.G1087G		Atlas-SNP	.											.	CILP2	84	.	0			c.C3261T						PASS	.	C		761,3643	284.3+/-277.5	57,647,1498	31	24	26		3261	3.5	1	19	dbSNP_129	26	1411,7189	252.2+/-278.4	111,1189,3000	no	coding-synonymous	CILP2	NM_153221.2		168,1836,4498	TT,TC,CC		16.407,17.2797,16.7026		1087/1157	19656615	2172,10832	2202	4300	6502	SO:0001819	synonymous_variant	148113	exon8			TGACGGCTTCTCC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3261C>T	19.37:g.19656615C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	214	94	0.439252	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	CCDS12405.1																																																																																			C|0.845;T|0.155	0.155	strong		0.622	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19656615	C	T	19656615	2	4	22	1	0	0	0	0	0	0	0	1	3430	784	28	2		2	CILP2	19	19656615	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	945	19656615	39472368	9708	14816										
ATP13A1	57130	hgsc.bcm.edu	37	chr19	19766365	19766365	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catacataggcagctgcagcGatggcaaacaccaggaggaa	12	10	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19766365G>A	ENST00000357324.6	-	10	1394	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	ATP13A1_ENST00000291503.5_Silent_p.I338I|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	456	Poly-Ala.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTGCAGCGATGGCAAACA	0.607																																					p.I456I	Esophageal Squamous(142;920 1789 9047 14684 24777)	Atlas-SNP	.											.	ATP13A1	82	.	0			c.C1368T						PASS	.						75	68	70					19																	19766365		2203	4300	6503	SO:0001819	synonymous_variant	57130	exon10			TGCAGCGATGGCA	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1368C>T	19.37:g.19766365G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	147	79	0.537415	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2																																																																																			.	.	none		0.607	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		A	19766365	G	A	19766365	2	1	22	1	0	0	0	0	0	0	0	1	1123	1048	37	1		1	ATP13A1	19	19766365	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	109750	19766365	39362618	9709	14817										
ZNF506	440515	hgsc.bcm.edu	37	chr19	19906131	19906131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaattttcttatatgtagTacgggttgaagactggttaa	9	4	2	2	rs16996376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:19906131T>G	ENST00000540806.2	-	4	653	c.565A>C	c.(565-567)Act>Cct	p.T189P	ZNF506_ENST00000450683.2_Missense_Mutation_p.T157P|ZNF506_ENST00000443905.2_Missense_Mutation_p.T189P|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	189			T -> P (in dbSNP:rs16996376).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TTATATGTAGTACGGGTTGAA	0.303													t|||	327	0.0652955	0.2262	0.0288	5008	,	,		19010	0.0		0.007	False		,,,				2504	0.001				p.T189P		Atlas-SNP	.											.	ZNF506	36	.	0			c.A565C						PASS	.	T	PRO/THR,PRO/THR	787,3387		71,645,1371	51	53	52		565,469	1	0.1	19	dbSNP_123	52	66,8426		1,64,4181	yes	missense,missense	ZNF506	NM_001099269.2,NM_001145404.1	38,38	72,709,5552	GG,GT,TT		0.7772,18.8548,6.7346	possibly-damaging,possibly-damaging	189/445,157/413	19906131	853,11813	2087	4246	6333	SO:0001583	missense	440515	exon4			ATGTAGTACGGGT	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.565A>C	19.37:g.19906131T>G	ENSP00000440625:p.Thr189Pro	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	50	22	0.44	NM_001099269	B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	CCDS42531.1	131	0.059981684981684984	115	0.23373983739837398	13	0.03591160220994475	0	0.0	3	0.00395778364116095	t	13.27	2.185989	0.38609	0.188548	0.007772	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.01172	5.23;5.23;5.23	0.974	0.974	0.19715	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.85373	2.75	0.80722	P	0.0	D;D	0.67145	0.996;0.967	D;P	0.65874	0.939;0.75	T	0.41980	-0.9478	8	0.87932	D	0	.	4.0711	0.09882	0.0:0.0:0.0:1.0	rs16996376;rs60499475;rs16996376	189;157	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	P	189;189;157	ENSP00000393835:T189P;ENSP00000440625:T189P;ENSP00000408892:T157P	ENSP00000393835:T189P	T	-	1	0	ZNF506	19767131	0.000000	0.05858	0.061000	0.19648	0.058000	0.15608	-0.102000	0.10956	0.358000	0.24211	0.347000	0.21830	ACT	T|0.935;G|0.065	0.065	strong		0.303	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		G	19906131	T	G	19906131	3	3	22	1	0	0	0	0	1	0	0	0	17949	1638	57	5	773	5	ZNF506	19	19906131	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139766	19906131	39222852	9710	14818										
ZNF253	56242	hgsc.bcm.edu	37	chr19	20003109	20003109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggcaaagcctttcacctAtcctcacaccttactacaca	4	15	2	0	rs8106559	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20003109A>G	ENST00000589717.1	+	4	1145	c.1053A>G	c.(1051-1053)ctA>ctG	p.L351L	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Silent_p.L275L|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	351				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTTCACCTATCCTCACACC	0.388													a|||	2422	0.483626	0.6762	0.379	5008	,	,		22620	0.6815		0.2376	False		,,,				2504	0.3466				p.L351L		Atlas-SNP	.											.	ZNF253	99	.	0			c.A1053G						PASS	.	A		2644,1696		840,964,366	46	50	49		1053	-1.8	0	19	dbSNP_116	49	2088,6472		252,1584,2444	no	coding-synonymous	ZNF253	NM_021047.2		1092,2548,2810	GG,GA,AA		24.3925,39.0783,36.6822		351/500	20003109	4732,8168	2170	4280	6450	SO:0001819	synonymous_variant	56242	exon4			TCACCTATCCTCA	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1053A>G	19.37:g.20003109A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	CCDS42532.1																																																																																			A|0.602;G|0.398	0.398	strong		0.388	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		G	20003109	A	G	20003109	2	3	22	1	0	0	0	0	0	0	0	1	17794	436	16	2		2	ZNF253	19	20003109	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	96978	20003109	39125874	9711	14819										
ZNF93	81931	hgsc.bcm.edu	37	chr19	20044810	20044810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtaataaatgtggcaaagCctttattgcatcctcaaccc	7	10	1	0	rs75974774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20044810C>T	ENST00000343769.5	+	4	1074	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGTGGCAAAGCCTTTATTGCA	0.383													c|||	7	0.00139776	0.0053	0.0	5008	,	,		23005	0.0		0.0	False		,,,				2504	0.0				p.A349V		Atlas-SNP	.											.	ZNF93	81	.	0			c.C1046T						PASS	.	C	VAL/ALA	13,4393	20.2+/-43.8	0,13,2190	88	86	87		1046	0.9	0.8	19	dbSNP_131	87	0,8600		0,0,4300	yes	missense	ZNF93	NM_031218.3	64	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	349/621	20044810	13,12993	2203	4300	6503	SO:0001583	missense	81931	exon4			GCAAAGCCTTTAT	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1046C>T	19.37:g.20044810C>T	ENSP00000342002:p.Ala349Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	92	47	0.51087	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	c	16.93	3.258220	0.59321	0.002951	0.0	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.13778	2.56	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.28458	0.855	0.09310	N	0.999998	D	0.56035	0.974	P	0.60068	0.868	T	0.12760	-1.0535	9	0.52906	T	0.07	.	4.6298	0.12496	0.0:0.5889:0.4111:0.0	.	349	P35789	ZNF93_HUMAN	V	349	ENSP00000342002:A349V	ENSP00000342002:A349V	A	+	2	0	ZNF93	19905810	0.001000	0.12720	0.767000	0.31495	0.766000	0.43426	0.320000	0.19540	0.192000	0.20272	0.195000	0.17529	GCC	C|0.998;T|0.002	0.002	strong		0.383	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		T	20044810	C	T	20044810	3	4	22	1	0	0	0	0	1	0	0	0	18199	739	26	2	1060	2	ZNF93	19	20044810	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41701	20044810	39084173	9712	14820										
ZNF93	81931	hgsc.bcm.edu	37	chr19	20044886	20044886	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattacaaatgtgaagaatgTggcaaagccttcatttggtc	9	7	1	2	rs10401345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20044886T>C	ENST00000343769.5	+	4	1150	c.1122T>C	c.(1120-1122)tgT>tgC	p.C374C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C374C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GTGAAGAATGTGGCAAAGCCT	0.388													t|||	601	0.120008	0.2534	0.0447	5008	,	,		22657	0.0506		0.0437	False		,,,				2504	0.1431				p.C374C		Atlas-SNP	.											ZNF93,NS,carcinoma,0,1	ZNF93	81	1	1	Substitution - coding silent(1)	stomach(1)	c.T1122C						PASS	.	T		928,3478	355.1+/-312.9	98,732,1373	89	89	89		1122	0.9	0.5	19	dbSNP_119	89	281,8319	105.4+/-166.3	2,277,4021	no	coding-synonymous	ZNF93	NM_031218.3		100,1009,5394	CC,CT,TT		3.2674,21.0622,9.2957		374/621	20044886	1209,11797	2203	4300	6503	SO:0001819	synonymous_variant	81931	exon4			AGAATGTGGCAAA	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1122T>C	19.37:g.20044886T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	81	81	1	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	CCDS32973.1																																																																																			T|0.908;C|0.092	0.092	strong		0.388	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		C	20044886	T	C	20044886	2	2	22	1	0	0	0	0	0	0	0	1	18199	1702	59	2		2	ZNF93	19	20044886	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	76	20044886	39084097	9713	14821										
ZNF682	91120	hgsc.bcm.edu	37	chr19	20117685	20117685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtatgagaaccacttaaagGttttgccacattcctcacat	7	10	1	1	rs2075090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20117685G>A	ENST00000397165.2	-	4	786	c.626C>T	c.(625-627)aCc>aTc	p.T209I	ZNF682_ENST00000358523.5_Missense_Mutation_p.T177I|ZNF682_ENST00000397162.1_Missense_Mutation_p.T177I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.T215I|ZNF682_ENST00000595736.1_Missense_Mutation_p.T133I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	209			T -> I (in dbSNP:rs2075090). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CCACTTAAAGGTTTTGCCACA	0.378													g|||	621	0.124002	0.1316	0.17	5008	,	,		19963	0.1954		0.0378	False		,,,				2504	0.0961				p.T209I		Atlas-SNP	.											.	ZNF682	51	.	0			c.C626T						PASS	.	G	ILE/THR,ILE/THR	456,3668		29,398,1635	50	52	52		530,626	-0.6	0	19	dbSNP_96	52	283,8185		5,273,3956	yes	missense,missense	ZNF682	NM_001077349.1,NM_033196.2	89,89	34,671,5591	AA,AG,GG		3.342,11.0572,5.8688	possibly-damaging,possibly-damaging	177/467,209/499	20117685	739,11853	2062	4234	6296	SO:0001583	missense	91120	exon4			TTAAAGGTTTTGC	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.626C>T	19.37:g.20117685G>A	ENSP00000380351:p.Thr209Ile	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_033196	B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	CCDS42533.1	252	0.11538461538461539	72	0.14634146341463414	50	0.13812154696132597	105	0.18356643356643357	25	0.032981530343007916	G	6.697	0.497203	0.12762	0.110572	0.03342	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.36157	1.27;1.27;1.27	1.08	-0.578	0.11724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.64080	1.96	0.58432	P	5.999999999950489E-6	B	0.23249	0.082	B	0.25987	0.065	T	0.12785	-1.0534	8	0.72032	D	0.01	.	5.2114	0.15318	0.244:0.0:0.756:0.0	rs2075090;rs60679185;rs2075090	209	O95780	ZN682_HUMAN	I	209;177;177	ENSP00000380351:T209I;ENSP00000380348:T177I;ENSP00000351324:T177I	ENSP00000351324:T177I	T	-	2	0	ZNF682	19978685	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.410000	0.07151	-0.354000	0.08212	-0.350000	0.07774	ACC	G|0.895;A|0.105	0.105	strong		0.378	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		A	20117685	G	A	20117685	3	1	22	1	0	0	0	0	1	0	0	0	18086	1261	44	2	874	2	ZNF682	19	20117685	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72799	20117685	39011298	9714	14822										
ZNF737	100129842	hgsc.bcm.edu	37	chr19	20727463	20727463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaggggcacttaaagccttTgccacattcttcacatttgt	8	10	2	1	rs10411329	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20727463T>C	ENST00000427401.4	-	4	1640	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	516			K -> E (in dbSNP:rs10411329). {ECO:0000269|PubMed:15489334}.		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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTAAAGCCTTTGCCACATTCT	0.403													-|||	2092	0.417732	0.3449	0.5202	5008	,	,		20903	0.4395		0.4185	False		,,,				2504	0.4202				p.K516E		Atlas-SNP	.											.	ZNF737	50	.	0			c.A1546G						PASS	.	T	GLU/LYS	490,894		87,316,289	46	47	47		1546	0.8	0.3	19	dbSNP_119	47	1191,1991		221,749,621	no	missense	ZNF737	NM_001159293.1	56	308,1065,910	CC,CT,TT		37.4293,35.4046,36.8156	benign	516/537	20727463	1681,2885	692	1591	2283	SO:0001583	missense	100129842	exon4			AGCCTTTGCCACA	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1546A>G	19.37:g.20727463T>C	ENSP00000395733:p.Lys516Glu	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	26	16	0.615385	NM_001159293	C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	CCDS54238.1	939	0.42994505494505497	168	0.34146341463414637	179	0.494475138121547	267	0.46678321678321677	325	0.4287598944591029	N	12.59	1.984912	0.35036	0.354046	0.374293	ENSG00000237440	ENST00000427401	T	0.27104	1.69	0.801	0.801	0.18679	.	.	.	.	.	T	0.00012	0.0000	L	0.60904	1.88	0.37937	P	0.06779599999999997	B	0.25743	0.133	B	0.30401	0.115	T	0.42666	-0.9438	8	0.87932	D	0	.	3.7037	0.08392	0.0:0.0:0.0:1.0	rs10411329;rs52819273;rs10411329	516	C9JHM3	.	E	516	ENSP00000395733:K516E	ENSP00000395733:K516E	K	-	1	0	ZNF737	20519303	0.006000	0.16342	0.286000	0.24833	0.282000	0.26991	-2.106000	0.01338	0.147000	0.19030	0.145000	0.16022	AAA	T|0.588;C|0.412	0.412	strong		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		C	20727463	T	C	20727463	3	2	22	1	0	0	0	0	1	0	0	0	18123	1821	63	2	68	2	ZNF737	19	20727463	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	609778	20727463	38401520	9715	14823										
ZNF737	100129842	hgsc.bcm.edu	37	chr19	20727932	20727932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccactatgaattatcttGtgtgtagtaagggatgagaa	10	5	2	2	rs33926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:20727932G>A	ENST00000427401.4	-	4	1171	c.1077C>T	c.(1075-1077)caC>caT	p.H359H		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	359					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAATTATCTTGTGTGTAGTAA	0.393													a|||	2793	0.557708	0.5893	0.5893	5008	,	,		22316	0.6171		0.495	False		,,,				2504	0.4959				p.H359H		Atlas-SNP	.											.	ZNF737	50	.	0			c.C1077T						PASS	.	A		793,591		229,335,128	18	18	18		1077	-0.6	0.4	19	dbSNP_76	18	1520,1662		369,782,440	no	coding-synonymous	ZNF737	NM_001159293.1		598,1117,568	AA,AG,GG		47.7687,42.7023,49.343		359/537	20727932	2313,2253	692	1591	2283	SO:0001819	synonymous_variant	100129842	exon4			TATCTTGTGTGTA	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1077C>T	19.37:g.20727932G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	29	15	0.517241	NM_001159293	C9JHM3	Silent	SNP	ENST00000427401.4	37	CCDS54238.1																																																																																			G|0.431;A|0.569	0.569	strong		0.393	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		A	20727932	G	A	20727932	2	1	22	1	0	0	0	0	0	0	0	1	18123	1368	48	2		2	ZNF737	19	20727932	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	469	20727932	38401051	9716	14824										
ZNF714	148206	hgsc.bcm.edu	37	chr19	21300142	21300142	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cataagatgattcatactggAgagaaaccctacagatgtga	9	7	1	5	rs112722125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21300142A>C	ENST00000596143.1	+	5	997	c.672A>C	c.(670-672)ggA>ggC	p.G224G	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTCATACTGGAGAGAAACCCT	0.403													.|||	272	0.0543131	0.0643	0.0403	5008	,	,		19819	0.001		0.1133	False		,,,				2504	0.045				p.G224G		Atlas-SNP	.											.	ZNF714	121	.	0			c.A672C						PASS	.	A		263,4107		12,239,1934	46	48	47		672	-0.9	0.1	19	dbSNP_132	47	701,7891		25,651,3620	no	coding-synonymous	ZNF714	NM_182515.3		37,890,5554	CC,CA,AA		8.1588,6.0183,7.4371		224/555	21300142	964,11998	2185	4296	6481	SO:0001819	synonymous_variant	148206	exon5			TACTGGAGAGAAA	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.672A>C	19.37:g.21300142A>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	36	17	0.472222	NM_182515	Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	CCDS54239.1																																																																																			A|0.933;C|0.067	0.067	strong		0.403	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		C	21300142	A	C	21300142	2	2	22	1	0	0	0	0	0	0	0	1	18115	291	11	5		5	ZNF714	19	21300142	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	572210	21300142	37828841	9717	14825										
ZNF714	148206	hgsc.bcm.edu	37	chr19	21300964	21300964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaactcttactaaacaTaggaaaattcagcagggcat	6	10	3	0	rs111456417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21300964T>C	ENST00000596143.1	+	5	1819	c.1494T>C	c.(1492-1494)caT>caC	p.H498H	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	498					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(3)|lung(11)|urinary_tract(2)	18						TTACTAAACATAGGAAAATTC	0.423													.|||	232	0.0463259	0.0348	0.0389	5008	,	,		19554	0.001		0.1133	False		,,,				2504	0.045				p.H498H		Atlas-SNP	.											.	ZNF714	121	.	0			c.T1494C						PASS	.	T		156,4250		5,146,2052	74	82	80		1494	-0.3	0	19	dbSNP_132	80	703,7897		26,651,3623	no	coding-synonymous	ZNF714	NM_182515.3		31,797,5675	CC,CT,TT		8.1744,3.5406,6.6046		498/555	21300964	859,12147	2203	4300	6503	SO:0001819	synonymous_variant	148206	exon5			TAAACATAGGAAA	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1494T>C	19.37:g.21300964T>C		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_182515	Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	CCDS54239.1																																																																																			T|0.935;C|0.065	0.065	strong		0.423	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		C	21300964	T	C	21300964	2	2	22	1	0	0	0	0	0	0	0	1	18115	1403	49	2		2	ZNF714	19	21300964	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	822	21300964	37828019	9718	14826										
ZNF708	7562	hgsc.bcm.edu	37	chr19	21476912	21476912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactgtttaaaagctttgcCacattcttcacatttgtagg	8	8	2	0	rs112819776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21476912C>T	ENST00000356929.3	-	4	1053	c.856G>A	c.(856-858)Ggc>Agc	p.G286S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G286C(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAAGCTTTGCCACATTCTTCA	0.383													C|||	27	0.00539137	0.0197	0.0014	5008	,	,		20573	0.0		0.0	False		,,,				2504	0.0				p.G286S		Atlas-SNP	.											ZNF708,NS,carcinoma,0,1	ZNF708	66	1	1	Substitution - Missense(1)	lung(1)	c.G856A						PASS	.	C	SER/GLY	64,4332		0,64,2134	51	55	54		856	1	0.6	19	dbSNP_132	54	1,8595		0,1,4297	no	missense	ZNF708	NM_021269.2	56	0,65,6431	TT,TC,CC		0.0116,1.4559,0.5003	possibly-damaging	286/564	21476912	65,12927	2198	4298	6496	SO:0001583	missense	7562	exon4			CTTTGCCACATTC	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.856G>A	19.37:g.21476912C>T	ENSP00000349401:p.Gly286Ser	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	.	13.82	2.351563	0.41700	0.014559	1.16E-4	ENSG00000182141	ENST00000356929	T	0.01455	4.87	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	L	0.43701	1.375	0.35437	D	0.794531	D	0.76494	0.999	D	0.81914	0.995	T	0.45614	-0.9249	9	0.62326	D	0.03	.	8.9689	0.35894	0.0:1.0:0.0:0.0	.	286	P17019	ZN708_HUMAN	S	286	ENSP00000349401:G286S	ENSP00000349401:G286S	G	-	1	0	ZNF708	21268752	0.049000	0.20398	0.552000	0.28243	0.491000	0.33493	0.979000	0.29500	0.482000	0.27582	0.485000	0.47835	GGC	C|0.994;T|0.006	0.006	strong		0.383	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		T	21476912	C	T	21476912	3	4	22	1	0	0	0	0	1	0	0	0	18109	594	21	2	839	2	ZNF708	19	21476912	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	175948	21476912	37652071	9719	14827										
ZNF708	7562	hgsc.bcm.edu	37	chr19	21477431	21477431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttatgctcatccacactttTacagcctttctgatatccac	3	14	2	1	rs1781873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21477431T>C	ENST00000356929.3	-	4	534	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCCACACTTTTACAGCCTTTC	0.393													T|||	3110	0.621006	0.7436	0.562	5008	,	,		17016	0.629		0.5089	False		,,,				2504	0.6043				p.K113E		Atlas-SNP	.											.	ZNF708	66	.	0			c.A337G						PASS	.	T	GLU/LYS	3110,1296		1100,910,193	152	138	143		337	-0.6	0	19	dbSNP_89	143	4486,4114		1227,2032,1041	yes	missense	ZNF708	NM_021269.2	56	2327,2942,1234	CC,CT,TT		47.8372,29.4144,41.5962	benign	113/564	21477431	7596,5410	2203	4300	6503	SO:0001583	missense	7562	exon4			CACTTTTACAGCC	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.337A>G	19.37:g.21477431T>C	ENSP00000349401:p.Lys113Glu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	91	52	0.571429	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	1334	0.6108058608058609	367	0.7459349593495935	208	0.574585635359116	380	0.6643356643356644	379	0.5	.	0.884	-0.727862	0.03158	0.705856	0.521628	ENSG00000182141	ENST00000356929	T	0.06218	3.33	1.07	-0.564	0.11774	.	.	.	.	.	T	0.00012	0.0000	N	0.11341	0.13	0.80722	P	0.0	B	0.11235	0.004	B	0.12837	0.008	T	0.08249	-1.0731	8	0.17369	T	0.5	.	3.2122	0.06686	0.0:0.3246:0.0:0.6753	rs1781873;rs52805708;rs59165625;rs1781873	113	P17019	ZN708_HUMAN	E	113	ENSP00000349401:K113E	ENSP00000349401:K113E	K	-	1	0	ZNF708	21269271	0.000000	0.05858	0.023000	0.16930	0.022000	0.10575	-0.330000	0.07925	-0.428000	0.07339	-0.436000	0.05848	AAA	T|0.407;C|0.593	0.593	strong		0.393	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		C	21477431	T	C	21477431	3	2	22	1	0	0	0	0	1	0	0	0	18109	1763	61	2	1358	2	ZNF708	19	21477431	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	519	21477431	37651552	9720	14828										
ZNF493	284443	hgsc.bcm.edu	37	chr19	21606429	21606429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagaaaaaccctataaatGtgaagaatgtggcaaagcct	10	6	0	3	rs4621113	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21606429G>T	ENST00000355504.4	+	2	850	c.584G>T	c.(583-585)tGt>tTt	p.C195F	ZNF493_ENST00000392288.2_Missense_Mutation_p.C323F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	195			C -> F (in dbSNP:rs4621113). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCCTATAAATGTGAAGAATGT	0.333													.|||	2943	0.58766	0.6589	0.5476	5008	,	,		19736	0.6319		0.5	False		,,,				2504	0.5644				p.C323F		Atlas-SNP	.											.	ZNF493	178	.	0			c.G968T						PASS	.	G	PHE/CYS,PHE/CYS	2757,1641		867,1023,309	32	37	35		968,584	1	0.2	19	dbSNP_111	35	4437,4151		1205,2027,1062	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	205,205	2072,3050,1371	TT,TG,GG		48.3349,37.3124,44.6019	probably-damaging,probably-damaging	323/775,195/647	21606429	7194,5792	2199	4294	6493	SO:0001583	missense	284443	exon4			ATAAATGTGAAGA	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.584G>T	19.37:g.21606429G>T	ENSP00000347691:p.Cys195Phe	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	35	0.614035	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	1284	0.5879120879120879	334	0.6788617886178862	202	0.5580110497237569	378	0.6608391608391608	370	0.48812664907651715	N	5.820	0.335504	0.11013	0.626876	0.516651	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85088	-1.94;-1.94	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.94101	3.495	0.09310	P	1.0	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46992	-0.9151	8	0.87932	D	0	.	8.7583	0.34658	0.0:0.0:1.0:0.0	rs4621113;rs4621113	195;323	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	323;195	ENSP00000376110:C323F;ENSP00000347691:C195F	ENSP00000347691:C195F	C	+	2	0	ZNF493	21398269	1.000000	0.71417	0.194000	0.23346	0.190000	0.23558	6.598000	0.74122	0.399000	0.25367	0.404000	0.27445	TGT	G|0.458;T|0.542	0.542	strong		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		T	21606429	G	T	21606429	3	4	22	1	0	0	0	0	1	0	0	0	17941	1377	48	4	1045	4	ZNF493	19	21606429	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	128998	21606429	37522554	9721	14829										
ZNF429	353088	hgsc.bcm.edu	37	chr19	21719401	21719401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaaaatgtggcaaatcattTtgcatgctttcacaactaac	5	8	2	0	rs35782355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21719401T>C	ENST00000358491.4	+	4	754	c.546T>C	c.(544-546)ttT>ttC	p.F182F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	182					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(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GCAAATCATTTTGCATGCTTT	0.328													t|||	2793	0.557708	0.4781	0.5288	5008	,	,		20186	0.6389		0.5388	False		,,,				2504	0.6217				p.F182F		Atlas-SNP	.											.	ZNF429	338	.	0			c.T546C						PASS	.	T		2049,2339		493,1063,638	49	52	51		546	0.2	0.2	19	dbSNP_126	51	4797,3801		1380,2037,882	no	coding-synonymous	ZNF429	NM_001001415.2		1873,3100,1520	CC,CT,TT		44.208,46.6955,47.2817		182/675	21719401	6846,6140	2194	4299	6493	SO:0001819	synonymous_variant	353088	exon4			ATCATTTTGCATG	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.546T>C	19.37:g.21719401T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_001001415	A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	CCDS42537.1																																																																																			T|0.444;C|0.556	0.556	strong		0.328	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		C	21719401	T	C	21719401	2	2	22	1	0	0	0	0	0	0	0	1	17899	1838	64	2		2	ZNF429	19	21719401	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112972	21719401	37409582	9722	14830										
ZNF100	163227	hgsc.bcm.edu	37	chr19	21909548	21909548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataaggcttagggactggttAaagtctttaccacattcttc	8	8	2	0	rs371600049		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21909548A>G	ENST00000358296.6	-	5	1764	c.1566T>C	c.(1564-1566)ttT>ttC	p.F522F	ZNF100_ENST00000305570.6_Silent_p.F458F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	522					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GGGACTGGTTAAAGTCTTTAC	0.368													N|||	1	0.000199681	0.0008	0.0	5008	,	,		19310	0.0		0.0	False		,,,				2504	0.0				p.F522F		Atlas-SNP	.											.	ZNF100	62	.	0			c.T1566C						PASS	.	A		3,4315		0,3,2156	71	80	77		1566	-0.4	0.3	19		77	0,8552		0,0,4276	no	coding-synonymous	ZNF100	NM_173531.3		0,3,6432	GG,GA,AA		0.0,0.0695,0.0233		522/543	21909548	3,12867	2159	4276	6435	SO:0001819	synonymous_variant	163227	exon5			CTGGTTAAAGTCT	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1566T>C	19.37:g.21909548A>G		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	36	27	0.75	NM_173531	Q7M4M0	Silent	SNP	ENST00000358296.6	37	CCDS42538.1																																																																																			.	.	weak		0.368	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		G	21909548	A	G	21909548	2	3	22	1	0	0	0	0	0	0	0	1	17710	359	13	2		2	ZNF100	19	21909548	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	190147	21909548	37219435	9723	14831										
ZNF43	7594	hgsc.bcm.edu	37	chr19	21991663	21991663	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtagggtttcttttcagtAtgaattttcttatgtttagt	8	3	3	1	rs61733114	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:21991663A>G	ENST00000354959.4	-	4	1345	c.1176T>C	c.(1174-1176)caT>caC	p.H392H	ZNF43_ENST00000595461.1_Silent_p.H386H|ZNF43_ENST00000594012.1_Silent_p.H386H|ZNF43_ENST00000598381.1_Silent_p.H386H	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTTTTCAGTATGAATTTTCT	0.363													a|||	195	0.0389377	0.1392	0.0159	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0				p.H401H		Atlas-SNP	.											.	ZNF43	152	.	0			c.T1203C						PASS	.	A		469,3937	213.8+/-233.3	27,415,1761	55	59	58		1176	-2.5	0	19	dbSNP_129	58	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	ZNF43	NM_003423.2		27,423,6053	GG,GA,AA		0.093,10.6446,3.6675		392/810	21991663	477,12529	2203	4300	6503	SO:0001819	synonymous_variant	7594	exon4			TTCAGTATGAATT	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1176T>C	19.37:g.21991663A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	49	28	0.571429	NM_001256653	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																			A|0.968;G|0.032	0.032	strong		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		G	21991663	A	G	21991663	2	3	22	1	0	0	0	0	0	0	0	1	17900	446	16	2		2	ZNF43	19	21991663	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82115	21991663	37137320	9724	14832										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22155434	22155434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatttgtagggtttctcaTcagtatgaattctcttatgt	7	7	3	1	rs139351235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22155434T>C	ENST00000397126.4	-	4	2550	c.2402A>G	c.(2401-2403)gAt>gGt	p.D801G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	801					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCATCAGTATGAAT	0.363													N|||	152	0.0303514	0.1089	0.0115	5008	,	,		20788	0.0		0.0	False		,,,				2504	0.0				p.D801G		Atlas-SNP	.											.	ZNF208	817	.	0			c.A2402G						PASS	.	C	GLY/ASP	404,3794		23,358,1718	57	66	63		2402	2.6	0.1	19	dbSNP_134	63	3,8493		0,3,4245	no	missense	ZNF208	NM_007153.3	94	23,361,5963	CC,CT,TT		0.0353,9.6236,3.2062	benign	801/1281	22155434	407,12287	2099	4248	6347	SO:0001583	missense	7757	exon4			TTCTCATCAGTAT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2402A>G	19.37:g.22155434T>C	ENSP00000380315:p.Asp801Gly	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	26	16	0.615385	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	61	0.027930402930402932	58	0.11788617886178862	3	0.008287292817679558	0	0.0	0	0.0	t	0.001	-2.962685	0.00049	0.096236	3.53E-4	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.11277	2.79	2.57	2.57	0.30868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.43327	-0.9398	7	0.02654	T	1	.	5.0553	0.14529	0.0:0.6551:0.213:0.1319	.	701	O43345	ZN208_HUMAN	G	801;701	ENSP00000380315:D801G	ENSP00000380315:D801G	D	-	2	0	ZNF208	21947274	0.000000	0.05858	0.123000	0.21794	0.158000	0.22134	-0.473000	0.06615	0.123000	0.18342	-1.171000	0.01739	GAT	T|0.972;C|0.028	0.028	strong		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155434	T	C	22155434	3	2	22	1	0	0	0	0	1	0	0	0	17763	1435	50	2	1444	2	ZNF208	19	22155434	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	163771	22155434	36973549	9725	14833										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22155520	22155520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catttgtagggtttctctacAgtatgaattttcttatgata	7	5	2	2	rs7258270	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22155520A>G	ENST00000397126.4	-	4	2464	c.2316T>C	c.(2314-2316)acT>acC	p.T772T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	772					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTCTCTACAGTATGAATTT	0.358													a|||	1100	0.219649	0.3343	0.2233	5008	,	,		21120	0.1885		0.1113	False		,,,				2504	0.2055				p.T772T		Atlas-SNP	.											ZNF208_ENST00000428290,NS,carcinoma,-1,3	ZNF208	817	3	0			c.T2316C						PASS	.	A		1151,2855		175,801,1027	31	35	34		2316	-0.1	0	19	dbSNP_116	34	1121,7271		74,973,3149	no	coding-synonymous	ZNF208	NM_007153.3		249,1774,4176	GG,GA,AA		13.358,28.7319,18.3255		772/1281	22155520	2272,10126	2003	4196	6199	SO:0001819	synonymous_variant	7757	exon4			CTCTACAGTATGA	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2316T>C	19.37:g.22155520A>G		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	17	6	0.352941	NM_007153		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																			A|0.814;G|0.186	0.186	strong		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155520	A	G	22155520	2	3	22	1	0	0	0	0	0	0	0	1	17763	175	7	3		3	ZNF208	19	22155520	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86	22155520	36973463	9726	14834										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22156470	22156470	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcctttgccacattcttCacatttgtagggtgtctctc	7	11	3	0	rs7255075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22156470C>G	ENST00000397126.4	-	4	1514	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	456			E -> Q (in dbSNP:rs7255075).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.378													c|||	152	0.0303514	0.1089	0.0101	5008	,	,		21690	0.0		0.001	False		,,,				2504	0.0				p.E456Q		Atlas-SNP	.											ZNF208_ENST00000428290,NS,carcinoma,+2,3	ZNF208	817	3	0			c.G1366C						PASS	.	C	GLN/GLU	499,3789		22,455,1667	73	79	77		1366	0.6	0	19	dbSNP_116	77	3,8513		0,3,4255	no	missense	ZNF208	NM_007153.3	29	22,458,5922	GG,GC,CC		0.0352,11.6371,3.9206	possibly-damaging	456/1281	22156470	502,12302	2144	4258	6402	SO:0001583	missense	7757	exon4			ATTCTTCACATTT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1366G>C	19.37:g.22156470C>G	ENSP00000380315:p.Glu456Gln	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	63	0.028846153846153848	59	0.11991869918699187	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	12.09	1.832255	0.32421	0.116371	3.52E-4	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.18960	2.18	2.83	0.577	0.17385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00328	0.0010	.	.	.	0.80722	P	0.0	P	0.44816	0.844	P	0.55667	0.781	T	0.13953	-1.0490	7	0.18710	T	0.47	.	3.6064	0.08043	0.0:0.2616:0.1947:0.5437	rs7255075;rs52824395;rs58613552;rs7255075	456	O43345	ZN208_HUMAN	Q	456	ENSP00000380315:E456Q	ENSP00000380315:E456Q	E	-	1	0	ZNF208	21948310	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-4.155000	0.00284	-0.314000	0.08716	0.306000	0.20318	GAA	C|0.961;G|0.039	0.039	strong		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22156470	C	G	22156470	3	3	22	1	0	0	0	0	1	0	0	0	17763	835	29	4	2480	4	ZNF208	19	22156470	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	950	22156470	36972513	9727	14835										
ZNF257	113835	hgsc.bcm.edu	37	chr19	22256347	22256347	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaatatgaagagacatgaGatggtagccaaacccccagg	11	8	0	3	rs10423157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22256347G>A	ENST00000594947.1	+	3	351	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF257_ENST00000600162.1_Silent_p.E69E	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGACATGAGATGGTAGCCA	0.438													G|||	556	0.111022	0.4054	0.0274	5008	,	,		16022	0.0		0.0	False		,,,				2504	0.001				p.E69E		Atlas-SNP	.											.	ZNF257	156	.	0			c.G207A						PASS	.	G		1613,2793	496.2+/-363.5	291,1031,881	133	145	141		207	-1.7	0	19	dbSNP_119	141	17,8583	11.2+/-40.8	0,17,4283	no	coding-synonymous	ZNF257	NM_033468.2		291,1048,5164	AA,AG,GG		0.1977,36.6092,12.5327		69/564	22256347	1630,11376	2203	4300	6503	SO:0001819	synonymous_variant	113835	exon3			ACATGAGATGGTA	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.207G>A	19.37:g.22256347G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	61	26	0.42623	NM_033468	B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	CCDS46030.1																																																																																			G|0.927;A|0.073	0.073	strong		0.438	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22256347	G	A	22256347	2	1	22	1	0	0	0	0	0	0	0	1	17797	933	33	2		2	ZNF257	19	22256347	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	99877	22256347	36872636	9728	14836										
ZNF257	113835	hgsc.bcm.edu	37	chr19	22256358	22256358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacatgagatggtagccaAacccccaggtaggtgagagt	14	8	0	3	rs73930397	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22256358A>G	ENST00000594947.1	+	3	362	c.218A>G	c.(217-219)aAa>aGa	p.K73R	ZNF257_ENST00000600162.1_Missense_Mutation_p.K73R	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGGTAGCCAAACCCCCAGGT	0.443													A|||	224	0.0447284	0.1634	0.0115	5008	,	,		15865	0.0		0.0	False		,,,				2504	0.0				p.K73R		Atlas-SNP	.											.	ZNF257	156	.	0			c.A218G						PASS	.	A	ARG/LYS	735,3671	295.3+/-283.6	61,613,1529	125	136	132		218	-1.7	0.2	19	dbSNP_130	132	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ZNF257	NM_033468.2	26	61,621,5821	GG,GA,AA		0.093,16.6818,5.7127	benign	73/564	22256358	743,12263	2203	4300	6503	SO:0001583	missense	113835	exon3			TAGCCAAACCCCC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.218A>G	19.37:g.22256358A>G	ENSP00000470209:p.Lys73Arg	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	57	27	0.473684	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	87	0.03983516483516483	83	0.16869918699186992	4	0.011049723756906077	0	0.0	0	0.0	A	0.702	-0.790515	0.02884	0.166818	9.3E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	-1.72	0.08107	Krueppel-associated box (1);	.	.	.	.	T	0.00039	0.0001	N	0.04508	-0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.10450	0.005	T	0.24297	-1.0164	7	0.30854	T	0.27	.	2.1458	0.03787	0.3751:0.3325:0.2924:0.0	.	73	Q9Y2Q1	ZN257_HUMAN	R	73	.	ENSP00000380312:K73R	K	+	2	0	ZNF257	22048198	0.000000	0.05858	0.249000	0.24280	0.256000	0.26092	-0.441000	0.06879	-1.510000	0.01796	-1.552000	0.00895	AAA	A|0.967;G|0.033	0.033	strong		0.443	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			G	22256358	A	G	22256358	3	3	22	1	0	0	0	0	1	0	0	0	17797	14	1	2	228	2	ZNF257	19	22256358	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	22256358	36872625	9729	14837										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363448	22363448	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtttctctccagtatgaatAatcttatgtttagtaaggat	8	5	2	1	rs200452805		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22363448A>T	ENST00000397121.2	-	3	1388	c.1071T>A	c.(1069-1071)atT>atA	p.I357I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGTATGAATAATCTTATGTT	0.383																																					p.I357I		Atlas-SNP	.											ZNF676,rectum,carcinoma,0,2	ZNF676	146	2	0			c.T1071A						scavenged	.						68	74	72					19																	22363448		2162	4271	6433	SO:0001819	synonymous_variant	163223	exon3			ATGAATAATCTTA	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1071T>A	19.37:g.22363448A>T		Somatic	34	2	0.0588235		WXS	Illumina HiSeq	Phase_I	58	10	0.172414	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			.	.	weak		0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363448	A	T	22363448	2	4	22	1	0	0	0	0	0	0	0	1	18080	358	13	5		5	ZNF676	19	22363448	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	107090	22363448	36765535	9730	14838										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22364322	22364322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcatatcttctcaatatcAttttttggaaagaatcttct	4	7	6	1	rs62000438	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22364322A>G	ENST00000397121.2	-	3	514	c.197T>C	c.(196-198)aTg>aCg	p.M66T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCAATATCATTTTTTGGAA	0.303													A|||	203	0.0405351	0.1475	0.0101	5008	,	,		17799	0.0		0.001	False		,,,				2504	0.0				p.M66T		Atlas-SNP	.											ZNF676,NS,carcinoma,+1,1	ZNF676	146	1	0			c.T197C						PASS	.	A	THR/MET	503,3277		31,441,1418	59	53	55		197	0.8	0	19	dbSNP_129	55	11,8297		0,11,4143	yes	missense	ZNF676	NM_001001411.2	81	31,452,5561	GG,GA,AA		0.1324,13.3069,4.2522	benign	66/589	22364322	514,11574	1890	4154	6044	SO:0001583	missense	163223	exon3			AATATCATTTTTT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.197T>C	19.37:g.22364322A>G	ENSP00000380310:p.Met66Thr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	79	0.036172161172161175	77	0.1565040650406504	2	0.0055248618784530384	0	0.0	0	0.0	.	4.684	0.127192	0.08981	0.133069	0.001324	ENSG00000196109	ENST00000397121	T	0.06608	3.28	0.814	0.814	0.18756	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.12630	0.006	B	0.04013	0.001	T	0.46373	-0.9196	8	0.33940	T	0.23	.	3.7226	0.08462	1.0:0.0:0.0:0.0	.	66	Q8N7Q3	ZN676_HUMAN	T	66	ENSP00000380310:M66T	ENSP00000380310:M66T	M	-	2	0	ZNF676	22156162	0.000000	0.05858	0.033000	0.17914	0.033000	0.12548	0.541000	0.23207	0.158000	0.19367	0.156000	0.16432	ATG	A|0.974;G|0.026	0.026	strong		0.303	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22364322	A	G	22364322	3	3	22	1	0	0	0	0	1	0	0	0	18080	217	8	2	1573	2	ZNF676	19	22364322	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	874	22364322	36764661	9731	14839										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22375868	22375868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatattccagggctcttttCcttgctccagaaaaatgatc	6	11	2	2	rs8104929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22375868C>T	ENST00000397121.2	-	2	397	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		G -> E (in dbSNP:rs8104929).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGCTCTTTTCCTTGCTCCAG	0.408													C|||	2210	0.441294	0.6331	0.3689	5008	,	,		15924	0.3393		0.3459	False		,,,				2504	0.4366				p.G27E		Atlas-SNP	.											.	ZNF676	146	.	0			c.G80A						PASS	.	C	GLU/GLY	1715,1307		496,723,292	99	119	112		80	0.8	0.7	19	dbSNP_116	112	1902,3516		346,1210,1153	no	missense	ZNF676	NM_001001411.2	98	842,1933,1445	TT,TC,CC		35.1052,43.2495,42.8555	benign	27/589	22375868	3617,4823	1511	2709	4220	SO:0001583	missense	163223	exon2			TCTTTTCCTTGCT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.80G>A	19.37:g.22375868C>T	ENSP00000380310:p.Gly27Glu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	874	0.4001831501831502	310	0.6300813008130082	127	0.35082872928176795	181	0.31643356643356646	256	0.33773087071240104	.	6.915	0.538495	0.13250	0.567505	0.351052	ENSG00000196109	ENST00000397121	T	0.00892	5.57	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.00012	0.0000	L	0.45228	1.405	0.44611	P	0.0024159999999999737	D	0.76494	0.999	D	0.71184	0.972	T	0.10753	-1.0616	8	0.25106	T	0.35	.	4.7436	0.13026	0.0:1.0:0.0:0.0	rs8104929;rs57089838	27	Q8N7Q3	ZN676_HUMAN	E	27	ENSP00000380310:G27E	ENSP00000380310:G27E	G	-	2	0	ZNF676	22167708	0.703000	0.27826	0.667000	0.29798	0.670000	0.39368	0.737000	0.26144	0.181000	0.19994	0.184000	0.17185	GGA	C|0.616;T|0.384	0.384	strong		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22375868	C	T	22375868	3	4	22	1	0	0	0	0	1	0	0	0	18080	855	30	2	1694	2	ZNF676	19	22375868	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11546	22375868	36753115	9732	14840										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22574357	22574357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcttttatatttggaaatCtttgcaatgttgtcacaagc	6	6	3	0	rs200702907	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22574357C>G	ENST00000357774.5	-	4	1801	c.1680G>C	c.(1678-1680)aaG>aaC	p.K560N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K560N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGGAAATCTTTGCAATGT	0.323																																					p.K560N		Atlas-SNP	.											ZNF98_ENST00000357774,NS,carcinoma,0,4	ZNF98	230	4	2	Substitution - Missense(2)	prostate(2)	c.G1680C						scavenged	.						21	16	17					19																	22574357		1774	3947	5721	SO:0001583	missense	148198	exon4			GGAAATCTTTGCA		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1680G>C	19.37:g.22574357C>G	ENSP00000350418:p.Lys560Asn	Somatic	762	2	0.00262467		WXS	Illumina HiSeq	Phase_I	901	370	0.410655	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.422641	0.00186	.	.	ENSG00000197360	ENST00000357774	T	0.07688	3.17	1.39	0.147	0.14838	.	.	.	.	.	T	0.02193	0.0068	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41858	-0.9485	9	0.05959	T	0.93	.	0.0912	0.00040	0.3312:0.2373:0.1958:0.2357	.	560	A6NK75	ZNF98_HUMAN	N	560	ENSP00000350418:K560N	ENSP00000350418:K560N	K	-	3	2	ZNF98	22366197	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.155000	0.01284	-0.971000	0.03564	-0.764000	0.03450	AAG	C|0.500;G|0.500	0.500	weak		0.323	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22574357	C	G	22574357	3	3	22	1	0	0	0	0	1	0	0	0	18200	912	32	4	42	4	ZNF98	19	22574357	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	198489	22574357	36554626	9733	14841										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22575423	22575423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttgtagggtttctctccaCtatgaattcttttatgttga	7	6	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22575423C>G	ENST00000357774.5	-	4	735	c.614G>C	c.(613-615)aGt>aCt	p.S205T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	205					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)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTCTCTCCACTATGAATTCT	0.348																																					p.S205T		Atlas-SNP	.											ZNF98_ENST00000357774,NS,carcinoma,+1,2	ZNF98	230	2	0			c.G614C						scavenged	.						9	9	9					19																	22575423		1852	4073	5925	SO:0001583	missense	148198	exon4			TCTCCACTATGAA		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.614G>C	19.37:g.22575423C>G	ENSP00000350418:p.Ser205Thr	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	276	6	0.0217391	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.150128	0.00328	.	.	ENSG00000197360	ENST00000357774	T	0.12879	2.64	1.28	-2.56	0.06268	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.01284	-0.91	0.22330	N	0.999198	B	0.02656	0.0	B	0.04013	0.001	T	0.37776	-0.9691	9	0.02654	T	1	.	4.6015	0.12356	0.1579:0.4487:0.3933:0.0	.	205	A6NK75	ZNF98_HUMAN	T	205	ENSP00000350418:S205T	ENSP00000350418:S205T	S	-	2	0	ZNF98	22367263	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	-0.375000	0.07475	-1.007000	0.03408	-0.731000	0.03576	AGT	.	.	none		0.348	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22575423	C	G	22575423	3	3	22	1	0	0	0	0	1	0	0	0	18200	565	20	4	1108	4	ZNF98	19	22575423	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1066	22575423	36553560	9734	14842										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22575481	22575481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaatgacttttcacattCtttacacttgaaagatttct	4	8	3	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22575481C>T	ENST00000357774.5	-	4	677	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	186					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)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTCACATTCTTTACACTTG	0.303																																					p.E186K		Atlas-SNP	.											ZNF98_ENST00000357774,caecum,carcinoma,0,2	ZNF98	230	2	0			c.G556A						scavenged	.						24	24	24					19																	22575481		2007	4196	6203	SO:0001583	missense	148198	exon4			CACATTCTTTACA		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.556G>A	19.37:g.22575481C>T	ENSP00000350418:p.Glu186Lys	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	309	4	0.012945	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	3.730	-0.055780	0.07362	.	.	ENSG00000197360	ENST00000357774	T	0.07327	3.2	1.28	-0.304	0.12788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	N	0.25992	0.78	0.09310	N	1	B	0.14438	0.01	B	0.22880	0.042	T	0.39941	-0.9589	9	0.35671	T	0.21	.	8.1641	0.31215	0.0:0.7501:0.2498:0.0	.	186	A6NK75	ZNF98_HUMAN	K	186	ENSP00000350418:E186K	ENSP00000350418:E186K	E	-	1	0	ZNF98	22367321	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.118000	0.15605	0.676000	0.31285	0.305000	0.20034	GAA	.	.	none		0.303	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575481	C	T	22575481	3	4	22	1	0	0	0	0	1	0	0	0	18200	922	32	2	1166	2	ZNF98	19	22575481	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58	22575481	36553502	9735	14843										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22575504	22575504	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacacttgaaagatttctttCcagtatgtcctatcttatgt	5	8	2	2	rs116270361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22575504C>G	ENST00000357774.5	-	4	654	c.533G>C	c.(532-534)gGa>gCa	p.G178A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	178					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)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGATTTCTTTCCAGTATGTCC	0.303													c|||	102	0.0203674	0.0741	0.0058	5008	,	,		17746	0.0		0.0	False		,,,				2504	0.0				p.G178A		Atlas-SNP	.											.	ZNF98	230	.	0			c.G533C						PASS	.	C	ALA/GLY	286,3752		6,274,1739	26	27	27		533	-1.8	0	19	dbSNP_132	27	2,8428		0,2,4213	no	missense	ZNF98	NM_001098626.1	60	6,276,5952	GG,GC,CC		0.0237,7.0827,2.3099	possibly-damaging	178/573	22575504	288,12180	2019	4215	6234	SO:0001583	missense	148198	exon4			TTCTTTCCAGTAT		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.533G>C	19.37:g.22575504C>G	ENSP00000350418:p.Gly178Ala	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	287	152	0.529617	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	42	0.019230769230769232	40	0.08130081300813008	2	0.0055248618784530384	0	0.0	0	0.0	.	12.41	1.928642	0.34002	0.070827	2.37E-4	ENSG00000197360	ENST00000357774	T	0.35236	1.32	1.28	-1.83	0.07833	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	L	0.52905	1.665	0.30794	N	0.740644	P	0.45827	0.867	P	0.55713	0.782	T	0.22103	-1.0226	9	0.66056	D	0.02	.	4.2412	0.10648	0.2247:0.6036:0.0:0.1717	.	178	A6NK75	ZNF98_HUMAN	A	178	ENSP00000350418:G178A	ENSP00000350418:G178A	G	-	2	0	ZNF98	22367344	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.168000	0.16622	-0.223000	0.09943	0.305000	0.20034	GGA	C|0.976;G|0.024	0.024	strong		0.303	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22575504	C	G	22575504	3	3	22	1	0	0	0	0	1	0	0	0	18200	855	30	4	1189	4	ZNF98	19	22575504	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23	22575504	36553479	9736	14844										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22846623	22846623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtatgttcttattttgcccGagacctttggccaaagcagg	10	9	1	1	rs71355986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22846623G>A	ENST00000456783.2	+	4	396	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R51Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TATTTTGCCCGAGACCTTTGG	0.284													N|||	1067	0.213059	0.4054	0.134	5008	,	,		14205	0.1736		0.1362	False		,,,				2504	0.1288				p.R51Q		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G152A						PASS	.						18	20	20					19																	22846623		1801	4095	5896	SO:0001583	missense	57615	exon4			TTGCCCGAGACCT	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.152G>A	19.37:g.22846623G>A	ENSP00000413660:p.Arg51Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	23	22	0.956522	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	409	0.18727106227106227	166	0.33739837398373984	54	0.14917127071823205	99	0.17307692307692307	90	0.11873350923482849	.	0.007	-1.940811	0.00479	.	.	ENSG00000229676	ENST00000456783	T	0.06687	3.27	1.12	-0.367	0.12541	.	.	.	.	.	T	0.00012	0.0000	N	0.00014	-2.9	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	8	0.02654	T	1	.	4.7284	0.12952	0.4846:0.0:0.5154:0.0	.	51	Q9P255	ZN492_HUMAN	Q	51	ENSP00000413660:R51Q	ENSP00000413660:R51Q	R	+	2	0	ZNF492	22638463	0.000000	0.05858	0.053000	0.19242	0.052000	0.14988	-0.921000	0.04008	-0.964000	0.03595	-0.974000	0.02594	CGA	G|0.827;A|0.173	0.173	strong		0.284	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		A	22846623	G	A	22846623	3	1	22	1	0	0	0	0	1	0	0	0	17940	1058	37	1	162	1	ZNF492	19	22846623	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	271119	22846623	36282360	9737	14845										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22846962	22846962	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacataaaagaattcataGtggagagaaaccctacaaat	6	7	2	2	rs138844698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22846962G>C	ENST00000456783.2	+	4	735	c.491G>C	c.(490-492)aGt>aCt	p.S164T	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGAATTCATAGTGGAGAGAAA	0.338													N|||	246	0.0491214	0.1778	0.0115	5008	,	,		17962	0.0		0.003	False		,,,				2504	0.0				p.S164T		Atlas-SNP	.											.	ZNF492	129	.	0			c.G491C						PASS	.						14	20	18					19																	22846962		1994	4214	6208	SO:0001583	missense	57615	exon4			TTCATAGTGGAGA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.491G>C	19.37:g.22846962G>C	ENSP00000413660:p.Ser164Thr	Somatic	281	2	0.00711744		WXS	Illumina HiSeq	Phase_I	160	119	0.74375	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	93	0.042582417582417584	87	0.17682926829268292	4	0.011049723756906077	0	0.0	2	0.002638522427440633	.	0.004	-2.252690	0.00268	.	.	ENSG00000229676	ENST00000456783	T	0.12879	2.64	1.3	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00890	-1.11	0.52501	P	4.999999999999449E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	8	0.02654	T	1	.	6.7224	0.23338	0.0:0.7004:0.2996:0.0	.	164	Q9P255	ZN492_HUMAN	T	164	ENSP00000413660:S164T	ENSP00000413660:S164T	S	+	2	0	ZNF492	22638802	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.346000	0.00503	-0.381000	0.07882	-1.146000	0.01853	AGT	G|0.957;C|0.043	0.043	strong		0.338	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22846962	G	C	22846962	3	2	22	1	0	0	0	0	1	0	0	0	17940	1029	36	4	501	4	ZNF492	19	22846962	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	339	22846962	36282021	9738	14846										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22847072	22847072	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaccctacaaatgcgaaGagtgtggaaaagcctttaac	9	8	0	2	rs146300593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22847072G>C	ENST00000456783.2	+	4	845	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E201Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAATGCGAAGAGTGTGGAAA	0.388													N|||	1057	0.211062	0.3994	0.1326	5008	,	,		16714	0.1736		0.1362	False		,,,				2504	0.1278				p.E201Q		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G601C						scavenged	.						12	16	15					19																	22847072		1865	4135	6000	SO:0001583	missense	57615	exon4			TGCGAAGAGTGTG	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.601G>C	19.37:g.22847072G>C	ENSP00000413660:p.Glu201Gln	Somatic	531	2	0.00376648		WXS	Illumina HiSeq	Phase_I	465	341	0.733333	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	373	0.1707875457875458	149	0.30284552845528456	48	0.13259668508287292	92	0.16083916083916083	84	0.11081794195250659	.	6.551	0.469928	0.12461	.	.	ENSG00000229676	ENST00000456783	T	0.36157	1.27	1.3	-0.404	0.12396	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.20401	0.57	0.80722	P	0.0	B	0.28900	0.227	B	0.27796	0.083	T	0.40757	-0.9546	8	0.51188	T	0.08	.	6.7259	0.23357	0.0:0.2945:0.7055:0.0	.	201	Q9P255	ZN492_HUMAN	Q	201	ENSP00000413660:E201Q	ENSP00000413660:E201Q	E	+	1	0	ZNF492	22638912	0.002000	0.14202	0.003000	0.11579	0.015000	0.08874	0.167000	0.16602	0.492000	0.27815	0.274000	0.19336	GAG	G|0.500;C|0.500	0.500	strong		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22847072	G	C	22847072	3	2	22	1	0	0	0	0	1	0	0	0	17940	943	33	4	611	4	ZNF492	19	22847072	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	110	22847072	36281911	9739	14847										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22847084	22847084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcgaagagtgtggaaaaGcctttaaccggctctcacac	10	10	1	1	rs139985933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22847084G>T	ENST00000456783.2	+	4	857	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A205S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGTGGAAAAGCCTTTAACCG	0.388													N|||	1056	0.210863	0.3994	0.1311	5008	,	,		16784	0.1736		0.1362	False		,,,				2504	0.1278				p.A205S		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G613T						scavenged	.						10	14	13					19																	22847084		1817	4100	5917	SO:0001583	missense	57615	exon4			GGAAAAGCCTTTA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.613G>T	19.37:g.22847084G>T	ENSP00000413660:p.Ala205Ser	Somatic	526	2	0.00380228		WXS	Illumina HiSeq	Phase_I	465	330	0.709677	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	372	0.17032967032967034	149	0.30284552845528456	48	0.13259668508287292	91	0.1590909090909091	84	0.11081794195250659	.	11.77	1.736335	0.30774	.	.	ENSG00000229676	ENST00000456783	T	0.00856	5.61	1.3	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.20304	0.555	0.49915	P	1.6799999999994597E-4	D	0.76494	0.999	D	0.79784	0.993	T	0.54180	-0.8332	8	0.56958	D	0.05	.	2.3465	0.04272	0.374:0.0:0.3942:0.2319	.	205	Q9P255	ZN492_HUMAN	S	205	ENSP00000413660:A205S	ENSP00000413660:A205S	A	+	1	0	ZNF492	22638924	0.000000	0.05858	0.012000	0.15200	0.018000	0.09664	-0.253000	0.08794	-0.480000	0.06803	-0.798000	0.03219	GCC	G|0.500;T|0.500	0.500	strong		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		T	22847084	G	T	22847084	3	4	22	1	0	0	0	0	1	0	0	0	17940	971	34	4	623	4	ZNF492	19	22847084	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	22847084	36281899	9740	14848										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22847917	22847917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctacaagtgtgaagaatgTggcaaagcctttaacaactc	8	10	0	2	rs201040917		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22847917T>C	ENST00000456783.2	+	4	1690	c.1446T>C	c.(1444-1446)tgT>tgC	p.C482C	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGAAGAATGTGGCAAAGCCT	0.373																																					p.C482C		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,+1,1	ZNF492	129	1	0			c.T1446C						scavenged	.	T		172,3876		2,168,1854	27	39	36		1446	1.1	0.5	19	dbSNP_134	36	4,8488		0,4,4242	no	coding-synonymous	ZNF492	NM_020855.2		2,172,6096	CC,CT,TT		0.0471,4.249,1.4035		482/532	22847917	176,12364	2024	4246	6270	SO:0001819	synonymous_variant	57615	exon4			AGAATGTGGCAAA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1446T>C	19.37:g.22847917T>C		Somatic	310	1	0.00322581		WXS	Illumina HiSeq	Phase_I	26	23	0.884615	NM_020855	Q08EI7|Q08EI8	Silent	SNP	ENST00000456783.2	37	CCDS46032.1																																																																																			T|0.500;C|0.500	0.500	weak		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22847917	T	C	22847917	2	2	22	1	0	0	0	0	0	0	0	1	17940	1702	59	2		2	ZNF492	19	22847917	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	833	22847917	36281066	9741	14849										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22848028	22848028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttgtgacaacattgcaaaGatttccaaatataaaagaaa	6	6	0	3	rs3745115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22848028G>C	ENST00000456783.2	+	4	1801	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K519N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATTGCAAAGATTTCCAAAT	0.323													N|||	980	0.195687	0.354	0.1268	5008	,	,		20410	0.1667		0.1302	False		,,,				2504	0.1278				p.K519N		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G1557C						scavenged	.						18	18	18					19																	22848028		1781	4025	5806	SO:0001583	missense	57615	exon4			TGCAAAGATTTCC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1557G>C	19.37:g.22848028G>C	ENSP00000413660:p.Lys519Asn	Somatic	779	0	0		WXS	Illumina HiSeq	Phase_I	561	299	0.532977	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.565994	0.00134	.	.	ENSG00000229676	ENST00000456783	T	0.07688	3.17	1.03	-2.06	0.07298	.	.	.	.	.	T	0.02156	0.0067	N	0.03000	-0.44	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	8	0.07482	T	0.82	.	0.2809	0.00244	0.2469:0.289:0.2459:0.2181	rs3745115;rs7259827;rs59664756	519	Q9P255	ZN492_HUMAN	N	519	ENSP00000413660:K519N	ENSP00000413660:K519N	K	+	3	2	ZNF492	22639868	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.195000	0.09546	-1.287000	0.02381	-1.858000	0.00562	AAG	G|0.500;C|0.500	0.500	weak		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22848028	G	C	22848028	3	2	22	1	0	0	0	0	1	0	0	0	17940	933	33	4	1567	4	ZNF492	19	22848028	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111	22848028	36280955	9742	14850										
ZNF99	7652	hgsc.bcm.edu	37	chr19	22940659	22940659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagaaatggttaaaagcCttgccacattcttcacattt	7	9	2	1	rs59621958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22940659C>T	ENST00000596209.1	-	4	2142	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	ZNF99_ENST00000397104.3_Silent_p.K593K|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTAAAAGCCTTGCCACATT	0.378													T|||	1087	0.217053	0.4213	0.1326	5008	,	,		20012	0.1726		0.1362	False		,,,				2504	0.1299				p.K684K		Atlas-SNP	.											.	ZNF99	273	.	0			c.G2052A						PASS	.	T		1486,2718		256,974,872	46	49	48		1779	0.2	0	19	dbSNP_129	48	980,7520		67,846,3337	no	coding-synonymous	ZNF99	NM_001080409.2		323,1820,4209	TT,TC,CC		11.5294,35.3473,19.4112		593/912	22940659	2466,10238	2102	4250	6352	SO:0001819	synonymous_variant	7652	exon4			AAAAGCCTTGCCA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2052G>A	19.37:g.22940659C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_001080409	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																			C|0.826;T|0.174	0.174	strong		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22940659	C	T	22940659	2	4	22	1	0	0	0	0	0	0	0	1	18201	680	24	2		2	ZNF99	19	22940659	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92631	22940659	36188324	9743	14851										
ZNF99	7652	hgsc.bcm.edu	37	chr19	22941617	22941617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catatttgtagggtttctctTcagtatgaattatctcatgt	7	6	3	1	rs58653025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:22941617T>C	ENST00000596209.1	-	4	1184	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E274G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E274G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTCTTCAGTATGAAT	0.368													C|||	1087	0.217053	0.4206	0.1326	5008	,	,		19505	0.1746		0.1362	False		,,,				2504	0.1288				p.E365G		Atlas-SNP	.											ZNF99,NS,carcinoma,0,1	ZNF99	273	1	1	Substitution - Missense(1)	stomach(1)	c.A1094G						scavenged	.	C	GLY/GLU	1432,2612		250,932,840	69	77	74		821	0.3	0	19	dbSNP_129	74	994,7436		67,860,3288	no	missense	ZNF99	NM_001080409.2	98	317,1792,4128	CC,CT,TT		11.7912,35.4105,19.4485	benign	274/912	22941617	2426,10048	2022	4215	6237	SO:0001583	missense	7652	exon4			TTCTCTTCAGTAT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1094A>G	19.37:g.22941617T>C	ENSP00000472969:p.Glu365Gly	Somatic	32	1	0.03125		WXS	Illumina HiSeq	Phase_I	39	39	1	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	454	0.2078754578754579	203	0.41260162601626016	54	0.14917127071823205	104	0.18181818181818182	93	0.12269129287598944	-	0.008	-1.877054	0.00537	0.354105	0.117912	ENSG00000213973	ENST00000397104	T	0.11821	2.74	1.46	0.302	0.15786	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00496	-1.435	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.44498	-0.9324	8	0.02654	T	1	.	6.1729	0.20427	0.0:0.6931:0.0:0.3069	rs58653025	274	A8MXY4	ZNF99_HUMAN	G	274	ENSP00000380293:E274G	ENSP00000380293:E274G	E	-	2	0	ZNF99	22733457	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.130000	0.10498	-0.501000	0.06605	-0.526000	0.04340	GAA	T|0.811;C|0.189	0.189	strong		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22941617	T	C	22941617	3	2	22	1	0	0	0	0	1	0	0	0	18201	1783	62	2	2303	2	ZNF99	19	22941617	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	958	22941617	36187366	9744	14852										
ZNF91	7644	hgsc.bcm.edu	37	chr19	23556550	23556550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactctcacctacctgtggGttcatccaccatctcatgtt	5	15	4	0	rs148956643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:23556550G>A	ENST00000300619.7	-	3	452	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	ZNF91_ENST00000599743.1_Missense_Mutation_p.P83S|ZNF91_ENST00000397082.2_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTACCTGTGGGTTCATCCACC	0.438													G|||	73	0.0145767	0.0514	0.0072	5008	,	,		12954	0.0		0.0	False		,,,				2504	0.0				p.P83S		Atlas-SNP	.											.	ZNF91	349	.	0			c.C247T						PASS	.	G	SER/PRO	210,4192	127.8+/-164.7	4,202,1995	75	78	77		247	-0.3	0	19	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF91	NM_003430.2	74	4,203,6294	AA,AG,GG		0.0116,4.7706,1.6228	benign	83/1192	23556550	211,12791	2201	4300	6501	SO:0001583	missense	7644	exon3			CTGTGGGTTCATC	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.247C>T	19.37:g.23556550G>A	ENSP00000300619:p.Pro83Ser	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	128	58	0.453125	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	28	0.01282051282051282	24	0.04878048780487805	4	0.011049723756906077	0	0.0	0	0.0	G	0.005	-2.230572	0.00280	0.047706	1.16E-4	ENSG00000167232	ENST00000300619	T	0.05855	3.38	0.158	-0.317	0.12736	Krueppel-associated box (1);	.	.	.	.	T	0.00815	0.0027	L	0.59436	1.845	0.09310	N	1	B	0.24533	0.105	B	0.17979	0.02	T	0.46582	-0.9181	8	0.17369	T	0.5	.	.	.	.	.	83	Q05481	ZNF91_HUMAN	S	83	ENSP00000300619:P83S	ENSP00000300619:P83S	P	-	1	0	ZNF91	23348390	0.002000	0.14202	0.005000	0.12908	0.006000	0.05464	-0.167000	0.09940	-1.052000	0.03222	-1.038000	0.02383	CCC	G|0.992;A|0.008	0.008	strong		0.438	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		A	23556550	G	A	23556550	3	1	22	1	0	0	0	0	1	0	0	0	18197	1261	44	2	3336	2	ZNF91	19	23556550	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	614933	23556550	35572433	9745	14853										
ZNF254	9534	hgsc.bcm.edu	37	chr19	24310074	24310074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcaaatcttactacacaTaagataattcatactggaga	4	8	4	2	rs61737179	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:24310074T>C	ENST00000357002.4	+	4	1387	c.1272T>C	c.(1270-1272)caT>caC	p.H424H	ZNF254_ENST00000342944.6_Silent_p.H339H	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	424					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTACTACACATAAGATAATTC	0.338													T|||	119	0.023762	0.0862	0.0072	5008	,	,		21190	0.0		0.0	False		,,,				2504	0.0				p.H424H		Atlas-SNP	.											.	ZNF254	88	.	0			c.T1272C						PASS	.	T		243,4161	134.9+/-171.1	7,229,1966	37	40	39		1272	1.1	0.1	19	dbSNP_129	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF254	NM_203282.2		7,230,6265	CC,CT,TT		0.0116,5.5177,1.8763		424/660	24310074	244,12760	2202	4300	6502	SO:0001819	synonymous_variant	9534	exon4			TACACATAAGATA	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1272T>C	19.37:g.24310074T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	28	0.411765	NM_203282	A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	CCDS32983.1																																																																																			T|0.979;C|0.021	0.021	strong		0.338	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		C	24310074	T	C	24310074	2	2	22	1	0	0	0	0	0	0	0	1	17795	1403	49	2		2	ZNF254	19	24310074	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	753524	24310074	34818909	9746	14854										
C19orf2	8725	hgsc.bcm.edu	37	chr19	30500195	30500195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtgataacgaccatgagGctttaggggttggagataat	14	4	0	3	rs151025990	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:30500195G>C	ENST00000542441.2	+	8	1267	c.970G>C	c.(970-972)Gct>Cct	p.A324P	URI1_ENST00000312051.6_Missense_Mutation_p.A284P|URI1_ENST00000360605.4_Missense_Mutation_p.A306P|URI1_ENST00000392271.1_Missense_Mutation_p.A248P			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	324					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										cgaCCATGAGGCTTTAGGGGT	0.378													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21705	0.0		0.0	False		,,,				2504	0.0				p.A324P		Atlas-SNP	.											.	.	.	.	0			c.G970C						PASS	.	G	PRO/ALA,PRO/ALA	13,4393	20.2+/-43.8	0,13,2190	95	82	86		970,850	-3.2	0	19	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense	C19orf2	NM_003796.2,NM_134447.1	27,27	0,13,6490	CC,CG,GG		0.0,0.2951,0.1	benign,benign	324/536,284/496	30500195	13,12993	2203	4300	6503	SO:0001583	missense	8725	exon8			CATGAGGCTTTAG	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.970G>C	19.37:g.30500195G>C	ENSP00000442436:p.Ala324Pro	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.04	2.714683	0.48622	0.002951	0.0	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.50001	0.76	5.03	-3.22	0.05125	.	1.234740	0.05290	N	0.520817	T	0.22003	0.0530	N	0.08118	0	0.09310	N	1	P;B;P	0.38642	0.545;0.41;0.641	B;B;B	0.32864	0.147;0.11;0.154	T	0.13019	-1.0525	10	0.37606	T	0.19	-1.217	5.6351	0.17532	0.3821:0.0:0.4983:0.1197	.	284;324;321	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	P	322;248;324;284	ENSP00000442436:A324P	ENSP00000312530:A284P	A	+	1	0	C19orf2	35192035	0.042000	0.20092	0.000000	0.03702	0.248000	0.25809	0.075000	0.14686	-0.488000	0.06726	0.491000	0.48974	GCT	G|0.998;C|0.002	0.002	strong		0.378	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		C	30500195	G	C	30500195	3	2	22	1	0	0	0	0	1	0	0	0	1911	1203	42	4	1000	4	C19orf2	19	30500195	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6190121	30500195	28628788	9747	14855										
ZNF536	9745	hgsc.bcm.edu	37	chr19	31039357	31039357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacaaagccctggctgaccCcccttccatgaaagtccacg	9	16	0	2	rs61741995	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:31039357C>A	ENST00000355537.3	+	4	2978	c.2831C>A	c.(2830-2832)cCc>cAc	p.P944H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	944					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGCTGACCCCCCTTCCATG	0.522													C|||	77	0.0153754	0.0545	0.0072	5008	,	,		17880	0.0		0.0	False		,,,				2504	0.0				p.P944H		Atlas-SNP	.											.	ZNF536	424	.	0			c.C2831A						PASS	.	C	HIS/PRO	239,4167	141.5+/-176.9	7,225,1971	132	143	139		2831	3.3	0	19	dbSNP_129	139	16,8584	11.2+/-40.8	0,16,4284	yes	missense	ZNF536	NM_014717.1	77	7,241,6255	AA,AC,CC		0.186,5.4244,1.9606	benign	944/1301	31039357	255,12751	2203	4300	6503	SO:0001583	missense	9745	exon4			CTGACCCCCCTTC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2831C>A	19.37:g.31039357C>A	ENSP00000347730:p.Pro944His	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	30	18	0.6	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	C	3.103	-0.184365	0.06340	0.054244	0.00186	ENSG00000198597	ENST00000355537	T	0.08634	3.07	5.69	3.34	0.38264	.	0.451539	0.25613	N	0.029467	T	0.00784	0.0026	N	0.24115	0.695	0.09310	N	1	P;P	0.36495	0.556;0.556	B;B	0.34038	0.174;0.174	T	0.38824	-0.9643	10	0.46703	T	0.11	-2.4559	7.0172	0.24895	0.0:0.6863:0.1357:0.178	rs61741995	944;944	A7E228;O15090	.;ZN536_HUMAN	H	944	ENSP00000347730:P944H	ENSP00000347730:P944H	P	+	2	0	ZNF536	35731197	0.090000	0.21635	0.000000	0.03702	0.954000	0.61252	0.907000	0.28531	0.576000	0.29452	0.491000	0.48974	CCC	C|0.982;A|0.018	0.018	strong		0.522	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	31039357	C	A	31039357	3	1	22	1	0	0	0	0	1	0	0	0	17971	623	22	4	2841	4	ZNF536	19	31039357	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	539162	31039357	28089626	9748	14856										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31767717	31767717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcctaagtgtgactctagGtgactgatgtacgtggaagg	14	6	1	3	rs61744745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:31767717G>A	ENST00000240587.4	-	2	3309	c.2982C>T	c.(2980-2982)caC>caT	p.H994H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	994					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGACTCTAGGTGACTGATGT	0.473													G|||	174	0.0347444	0.1301	0.0029	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0				p.H994H		Atlas-SNP	.											.	TSHZ3	549	.	0			c.C2982T						PASS	.	G		440,3966	211.8+/-231.9	19,402,1782	120	105	110		2982	2.5	1	19	dbSNP_129	110	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	TSHZ3	NM_020856.2		19,406,6078	AA,AG,GG		0.0465,9.9864,3.4138		994/1082	31767717	444,12562	2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			CTCTAGGTGACTG	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2982C>T	19.37:g.31767717G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	167	86	0.51497	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			G|0.961;A|0.039	0.039	strong		0.473	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31767717	G	A	31767717	2	1	22	1	0	0	0	0	0	0	0	1	16622	1252	44	2		2	TSHZ3	19	31767717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	728360	31767717	27361266	9749	14857										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31768491	31768491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggcagggagggcttggcGgccttgcccaggtgaatgtt	18	9	0	1	rs139947200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:31768491G>A	ENST00000240587.4	-	2	2535	c.2208C>T	c.(2206-2208)gcC>gcT	p.A736A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	736					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGGCTTGGCGGCCTTGCCCA	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0				p.A736A		Atlas-SNP	.											.	TSHZ3	549	.	0			c.C2208T						PASS	.	G		17,4389	22.3+/-47.3	0,17,2186	58	59	59		2208	-10.7	0.3	19	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	TSHZ3	NM_020856.2		0,17,6486	AA,AG,GG		0.0,0.3858,0.1307		736/1082	31768491	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			CTTGGCGGCCTTG	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2208C>T	19.37:g.31768491G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	66	27	0.409091	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			G|0.999;A|0.001	0.001	strong		0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31768491	G	A	31768491	2	1	22	1	0	0	0	0	0	0	0	1	16622	1103	39	1		1	TSHZ3	19	31768491	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	774	31768491	27360492	9750	14858										
DPY19L3	147991	hgsc.bcm.edu	37	chr19	32930808	32930808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actccctggacatgctgccaGcagtgaaggtgagctttgct	12	11	0	2	rs139732410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:32930808G>A	ENST00000342179.5	+	8	1062	c.847G>A	c.(847-849)Gca>Aca	p.A283T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.A283T|DPY19L3_ENST00000586987.1_Missense_Mutation_p.A283T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	283						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CATGCTGCCAGCAGTGAAGGT	0.373													G|||	12	0.00239617	0.0091	0.0	5008	,	,		17998	0.0		0.0	False		,,,				2504	0.0				p.A283T		Atlas-SNP	.											.	DPY19L3	70	.	0			c.G847A						PASS	.	G	THR/ALA,THR/ALA	31,4375	37.6+/-69.7	0,31,2172	153	142	146		847,847	3.5	0.1	19	dbSNP_134	146	0,8600		0,0,4300	yes	missense,missense	DPY19L3	NM_001172774.1,NM_207325.2	58,58	0,31,6472	AA,AG,GG		0.0,0.7036,0.2384	benign,benign	283/717,283/717	32930808	31,12975	2203	4300	6503	SO:0001583	missense	147991	exon8			CTGCCAGCAGTGA		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.847G>A	19.37:g.32930808G>A	ENSP00000344937:p.Ala283Thr	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.569	0.289764	0.10567	0.007036	0.0	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54479	0.57;0.57	5.82	3.55	0.40652	.	0.164682	0.52532	D	0.000078	T	0.13927	0.0337	N	0.03084	-0.415	0.28833	N	0.897055	B	0.09022	0.002	B	0.08055	0.003	T	0.24154	-1.0168	10	0.05525	T	0.97	-8.0566	3.27	0.06878	0.1826:0.2943:0.523:0.0	.	283	Q6ZPD9	D19L3_HUMAN	T	283	ENSP00000376081:A283T;ENSP00000344937:A283T	ENSP00000315672:A283T	A	+	1	0	DPY19L3	37622648	0.997000	0.39634	0.084000	0.20598	0.988000	0.76386	3.927000	0.56499	1.448000	0.47680	0.557000	0.71058	GCA	G|0.998;A|0.002	0.002	strong		0.373	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		A	32930808	G	A	32930808	3	1	22	1	0	0	0	0	1	0	0	0	4742	971	34	2	873	2	DPY19L3	19	32930808	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1162317	32930808	26198175	9751	14859										
ANKRD27	84079	hgsc.bcm.edu	37	chr19	33131227	33131227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttaccaattagggatctcCgttttcacaagcaagtataa	7	8	2	0	rs10410241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33131227C>T	ENST00000306065.4	-	11	1127	c.969G>A	c.(967-969)acG>acA	p.T323T	ANKRD27_ENST00000587352.1_Silent_p.T323T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	323	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TAGGGATCTCCGTTTTCACAA	0.458													C|||	375	0.0748802	0.2738	0.0173	5008	,	,		20964	0.0		0.001	False		,,,				2504	0.0				p.T323T		Atlas-SNP	.											ANKRD27,colon,carcinoma,-1,1	ANKRD27	86	1	0			c.G969A						PASS	.	C		963,3443	364.9+/-317.2	123,717,1363	114	106	109		969	1.7	1	19	dbSNP_119	109	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	ANKRD27	NM_032139.2		123,720,5660	TT,TC,CC		0.0349,21.8566,7.4273		323/1051	33131227	966,12040	2203	4300	6503	SO:0001819	synonymous_variant	84079	exon11			GATCTCCGTTTTC	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.969G>A	19.37:g.33131227C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	209	91	0.435407	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	CCDS32986.1																																																																																			C|0.924;T|0.076	0.076	strong		0.458	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		T	33131227	C	T	33131227	2	4	22	1	0	0	0	0	0	0	0	1	655	639	23	1		1	ANKRD27	19	33131227	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	200419	33131227	25997756	9752	14860										
SLC7A9	11136	hgsc.bcm.edu	37	chr19	33333179	33333179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctgaaataattgactaaCgagtttatgtcaccagggat	9	6	1	2	rs111630604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33333179C>T	ENST00000023064.4	-	11	1310	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	SLC7A9_ENST00000590341.1_Silent_p.S373S|SLC7A9_ENST00000587772.1_Silent_p.S373S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	373					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AATTGACTAACGAGTTTATGT	0.393													C|||	50	0.00998403	0.0325	0.0086	5008	,	,		19257	0.0		0.0	False		,,,				2504	0.001				p.S373S	GBM(181;1335 2108 9644 44178 46689)	Atlas-SNP	.											SLC7A9,NS,carcinoma,-1,3	SLC7A9	78	3	0			c.G1119A						PASS	.	C	,	144,4262	102.1+/-140.7	5,134,2064	114	108	110		1119,1119	-11.4	0	19	dbSNP_132	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	5,134,6364	TT,TC,CC		0.0,3.2683,1.1072	,	373/488,373/488	33333179	144,12862	2203	4300	6503	SO:0001819	synonymous_variant	11136	exon11			GACTAACGAGTTT	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1119G>A	19.37:g.33333179C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_001243036	B2R9A6	Silent	SNP	ENST00000023064.4	37	CCDS12425.1																																																																																			C|0.987;T|0.013	0.013	strong		0.393	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			T	33333179	C	T	33333179	2	4	22	1	0	0	0	0	0	0	0	1	14705	523	19	1		1	SLC7A9	19	33333179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	201952	33333179	25795804	9753	14861										
CCDC123	84902	hgsc.bcm.edu	37	chr19	33406328	33406328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagttcttggcatttggcacGtaaaatctccagctgttccc	9	11	2	0	rs113919201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33406328G>A	ENST00000305768.5	-	14	1568	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	494					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATTTGGCACGTAAAATCTCC	0.423													G|||	36	0.0071885	0.025	0.0043	5008	,	,		15861	0.0		0.0	False		,,,				2504	0.0				p.R494C		Atlas-SNP	.											CEP89,NS,carcinoma,+1,1	CEP89	82	1	0			c.C1480T						PASS	.	G	CYS/ARG	99,4307	79.9+/-118.3	3,93,2107	123	109	114		1480	3.5	0	19	dbSNP_132	114	0,8600		0,0,4300	yes	missense	CEP89	NM_032816.3	180	3,93,6407	AA,AG,GG		0.0,2.2469,0.7612	benign	494/784	33406328	99,12907	2203	4300	6503	SO:0001583	missense	84902	exon14			TGGCACGTAAAAT	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1480C>T	19.37:g.33406328G>A	ENSP00000306105:p.Arg494Cys	Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	244	128	0.52459	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	15	0.006868131868131868	12	0.024390243902439025	3	0.008287292817679558	0	0.0	0	0.0	G	6.345	0.431801	0.12045	0.022469	0.0	ENSG00000121289	ENST00000305768	D	0.88201	-2.35	5.6	3.45	0.39498	.	1.178400	0.05586	N	0.573762	T	0.80385	0.4613	L	0.60455	1.87	0.24756	N	0.992952	B;B	0.14438	0.004;0.01	B;B	0.09377	0.004;0.002	T	0.71318	-0.4629	10	0.52906	T	0.07	1.9766	11.2548	0.49048	0.0701:0.1277:0.8023:0.0	.	247;494	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	C	494	ENSP00000306105:R494C	ENSP00000306105:R494C	R	-	1	0	CEP89	38098168	0.414000	0.25408	0.000000	0.03702	0.009000	0.06853	1.725000	0.38074	0.708000	0.31955	0.591000	0.81541	CGT	G|0.991;A|0.009	0.009	strong		0.423	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		A	33406328	G	A	33406328	3	1	22	1	0	0	0	0	1	0	0	0	2759	1145	40	1	895	1	CCDC123	19	33406328	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73149	33406328	25722655	9754	14862										
CCDC123	84902	hgsc.bcm.edu	37	chr19	33439187	33439187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctacctttttgttgtgtccGctgtggtgcaggaggggagc	15	8	1	0	rs3764633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33439187G>A	ENST00000305768.5	-	5	668	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	CEP89_ENST00000590597.2_Missense_Mutation_p.R194W	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	194			R -> W (in dbSNP:rs3764633).		cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTTGTGTCCGCTGTGGTGCA	0.333													G|||	950	0.189696	0.2224	0.098	5008	,	,		15572	0.1984		0.2237	False		,,,				2504	0.1667				p.R194W		Atlas-SNP	.											.	CEP89	82	.	0			c.C580T						PASS	.	G	TRP/ARG	971,3435	359.4+/-314.8	103,765,1335	66	55	59		580	-9.1	0	19	dbSNP_107	59	1625,6975	296.7+/-303.1	139,1347,2814	yes	missense	CEP89	NM_032816.3	101	242,2112,4149	AA,AG,GG		18.8953,22.0381,19.96	probably-damaging	194/784	33439187	2596,10410	2203	4300	6503	SO:0001583	missense	84902	exon5			GTGTCCGCTGTGG	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.580C>T	19.37:g.33439187G>A	ENSP00000306105:p.Arg194Trp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	59	28	0.474576	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	440	0.20146520146520147	103	0.20934959349593496	37	0.10220994475138122	114	0.1993006993006993	186	0.24538258575197888	G	9.076	0.998002	0.19043	0.220381	0.188953	ENSG00000121289	ENST00000305768	T	0.32272	1.46	4.56	-9.12	0.00707	.	2.443350	0.01393	N	0.013315	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.16070	-1.0415	9	0.54805	T	0.06	8.6014	0.0598	0.00015	0.3039:0.2052:0.1707:0.3201	rs3764633;rs17527988;rs17845604;rs17858524;rs52814258;rs59062989;rs3764633	194;194	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	W	194	ENSP00000306105:R194W	ENSP00000306105:R194W	R	-	1	2	CEP89	38131027	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.007000	0.01457	-1.432000	0.01979	-0.215000	0.12644	CGG	G|0.806;A|0.194	0.194	strong		0.333	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		A	33439187	G	A	33439187	3	1	22	1	0	0	0	0	1	0	0	0	2759	1086	38	1	1831	1	CCDC123	19	33439187	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32859	33439187	25689796	9755	14863										
CCDC123	84902	hgsc.bcm.edu	37	chr19	33450806	33450806	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcggcgatctggtacctacCgaggcctcagctgtgaggtg	16	11	2	1	rs73926195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33450806C>T	ENST00000305768.5	-	3	393	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CEP89_ENST00000590597.2_Splice_Site_p.R102Q	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	102					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.R102L(1)|p.R102Q(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGGTACCTACCGAGGCCTCAG	0.587													C|||	266	0.053115	0.1921	0.0173	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.0				p.R102Q		Atlas-SNP	.											CEP89,colon,carcinoma,-1,4	CEP89	82	4	2	Substitution - Missense(2)	ovary(1)|prostate(1)	c.G305A						PASS	.	C	GLN/ARG	699,3707	291.5+/-281.6	54,591,1558	94	75	81		305	2	0.8	19	dbSNP_130	81	5,8595	3.7+/-12.6	0,5,4295	yes	missense-near-splice	CEP89	NM_032816.3	43	54,596,5853	TT,TC,CC		0.0581,15.8647,5.4129	benign	102/784	33450806	704,12302	2203	4300	6503	SO:0001630	splice_region_variant	84902	exon3			ACCTACCGAGGCC	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.305+1G>A	19.37:g.33450806C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	144	73	0.506944	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	83	0.038003663003663	75	0.1524390243902439	8	0.022099447513812154	0	0.0	0	0.0	C	8.786	0.929433	0.18131	0.158647	5.81E-4	ENSG00000121289	ENST00000305768	T	0.30182	1.54	5.48	2.01	0.26516	.	0.317619	0.28382	N	0.015556	T	0.00039	0.0001	N	0.04203	-0.255	0.31021	P	0.718148	B;B	0.25235	0.017;0.121	B;B	0.14023	0.008;0.01	T	0.33929	-0.9849	8	.	.	.	-1.7133	10.2426	0.43321	0.0:0.7433:0.0:0.2567	.	102;102	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	Q	102	ENSP00000306105:R102Q	.	R	-	2	0	CEP89	38142646	0.975000	0.34042	0.770000	0.31555	0.026000	0.11368	0.915000	0.28638	0.162000	0.19483	0.655000	0.94253	CGG	C|0.944;T|0.056	0.056	strong		0.587	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	Missense_Mutation	T	33450806	C	T	33450806	5	4	22	1	0	0	0	0	0	0	1	0	2759	666	23	1	2114	1	CCDC123	19	33450806	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11619	33450806	25678177	9756	14864										
CCDC123	84902	hgsc.bcm.edu	37	chr19	33457328	33457328	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgtggcacagctgccttCggagcaacgctggctgcagg	16	12	0	0	rs150504912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33457328C>T	ENST00000305768.5	-	2	172	c.84G>A	c.(82-84)ccG>ccA	p.P28P	CEP89_ENST00000591863.1_5'Flank|CEP89_ENST00000590597.2_Silent_p.P28P	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	28					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGCTGCCTTCGGAGCAACGC	0.557													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20181	0.001		0.0	False		,,,				2504	0.0				p.P28P		Atlas-SNP	.											CEP89,caecum,carcinoma,0,1	CEP89	82	1	0			c.G84A						scavenged	.	C		3,4403	6.2+/-15.9	0,3,2200	98	78	85		84	-7.9	1	19	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	CEP89	NM_032816.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		28/784	33457328	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	84902	exon2			TGCCTTCGGAGCA	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.84G>A	19.37:g.33457328C>T		Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	94	50	0.531915	NM_032816	B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	CCDS32987.1																																																																																			C|1.000;T|0.000	0.000	weak		0.557	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		T	33457328	C	T	33457328	2	4	22	1	0	0	0	0	0	0	0	1	2759	871	31	1		1	CCDC123	19	33457328	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6522	33457328	25671655	9757	14865										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33486992	33486992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcctggtgctgggcgtAcgtgagccgggagcgttcct	15	13	0	1	rs75351369	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33486992A>C	ENST00000254260.3	-	11	1395	c.1360T>G	c.(1360-1362)Tac>Gac	p.Y454D	RHPN2_ENST00000400226.4_Missense_Mutation_p.Y303D	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCTGGGCGTACGTGAGCCGG	0.627													A|||	129	0.0257588	0.0915	0.0115	5008	,	,		18136	0.0		0.0	False		,,,				2504	0.0				p.Y454D		Atlas-SNP	.											.	RHPN2	107	.	0			c.T1360G						PASS	.	A	ASP/TYR	312,4094	167.6+/-198.6	8,296,1899	82	66	72		1360	3.8	0.8	19	dbSNP_131	72	5,8595	5.0+/-18.6	0,5,4295	no	missense	RHPN2	NM_033103.4	160	8,301,6194	CC,CA,AA		0.0581,7.0813,2.4373	probably-damaging	454/687	33486992	317,12689	2203	4300	6503	SO:0001583	missense	85415	exon11			GGGCGTACGTGAG	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1360T>G	19.37:g.33486992A>C	ENSP00000254260:p.Tyr454Asp	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	290	143	0.493103	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	50	0.022893772893772892	47	0.09552845528455285	3	0.008287292817679558	0	0.0	0	0.0	A	15.96	2.987827	0.53934	0.070813	5.81E-4	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.18502	2.21;2.21	4.86	3.82	0.43975	BRO1 domain (3);	0.230044	0.46758	D	0.000279	T	0.01387	0.0045	M	0.89287	3.02	0.41757	D	0.989692	D	0.56968	0.978	D	0.65233	0.933	T	0.00111	-1.2045	10	0.87932	D	0	0.6788	9.3929	0.38383	0.9165:0.0:0.0835:0.0	.	454	Q8IUC4	RHPN2_HUMAN	D	454;184;303	ENSP00000254260:Y454D;ENSP00000402244:Y303D	ENSP00000254260:Y454D	Y	-	1	0	RHPN2	38178832	0.997000	0.39634	0.822000	0.32727	0.459000	0.32528	2.550000	0.45811	0.669000	0.31146	0.477000	0.44152	TAC	A|0.973;C|0.027	0.027	strong		0.627	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		C	33486992	A	C	33486992	3	2	22	1	0	0	0	0	1	0	0	0	13351	391	14	5	720	5	RHPN2	19	33486992	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29664	33486992	25641991	9758	14866										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33498978	33498978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcctgcgtctgccgatcAcaccgggtcccaatctgggt	11	16	3	0	rs2163807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33498978A>G	ENST00000254260.3	-	7	737	c.702T>C	c.(700-702)tgT>tgC	p.C234C	RHPN2_ENST00000400226.4_Silent_p.C83C	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	234	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTGCCGATCACACCGGGTCC	0.627													G|||	2100	0.419329	0.4955	0.3228	5008	,	,		13775	0.2272		0.4652	False		,,,				2504	0.5358				p.C234C		Atlas-SNP	.											.	RHPN2	107	.	0			c.T702C						PASS	.	G		2104,2300		495,1114,593	30	26	27		702	-1.8	0.5	19	dbSNP_96	27	3847,4753		866,2115,1319	no	coding-synonymous	RHPN2	NM_033103.4		1361,3229,1912	GG,GA,AA		44.7326,47.7748,45.7628		234/687	33498978	5951,7053	2202	4300	6502	SO:0001819	synonymous_variant	85415	exon7			CCGATCACACCGG	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.702T>C	19.37:g.33498978A>G		Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	153	152	0.993464	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																			A|0.580;G|0.420	0.420	strong		0.627	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		G	33498978	A	G	33498978	2	3	22	1	0	0	0	0	0	0	0	1	13351	157	6	2		2	RHPN2	19	33498978	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11986	33498978	25630005	9759	14867										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33579128	33579128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgattccacggggcctttagTggaggtttctctgctggata	13	9	1	0	rs7259333	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33579128T>C	ENST00000170564.2	+	2	476	c.162T>C	c.(160-162)agT>agC	p.S54S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	54					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCCTTTAGTGGAGGTTTCT	0.363													C|||	2674	0.533946	0.8018	0.2867	5008	,	,		13444	0.5099		0.2416	False		,,,				2504	0.6728				p.S54S	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.T162C						PASS	.	C		3204,1202	416.7+/-337.7	1159,886,158	96	101	99		162	-4	0.7	19	dbSNP_116	99	2313,6287	705.1+/-405.5	284,1745,2271	no	coding-synonymous	GPATCH1	NM_018025.2		1443,2631,2429	CC,CT,TT		26.8953,27.281,42.4189		54/932	33579128	5517,7489	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			CTTTAGTGGAGGT	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.162T>C	19.37:g.33579128T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			T|0.549;C|0.451	0.451	strong		0.363	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33579128	T	C	33579128	2	2	22	1	0	0	0	0	0	0	0	1	6590	1693	59	2		2	GPATCH1	19	33579128	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80150	33579128	25549855	9760	14868										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33587298	33587298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggttctgagagagctggCgatcttggagaaattggact	16	5	2	3	rs114017497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33587298C>T	ENST00000170564.2	+	7	1112	c.798C>T	c.(796-798)ggC>ggT	p.G266G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	266					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAGAGCTGGCGATCTTGGAG	0.413													C|||	37	0.00738818	0.0257	0.0043	5008	,	,		16637	0.0		0.0	False		,,,				2504	0.0				p.G266G	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.C798T						PASS	.	C		114,4292	87.3+/-125.9	4,106,2093	75	78	77		798	2	0	19	dbSNP_132	77	0,8600		0,0,4300	no	coding-synonymous	GPATCH1	NM_018025.2		4,106,6393	TT,TC,CC		0.0,2.5874,0.8765		266/932	33587298	114,12892	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon7			AGCTGGCGATCTT	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.798C>T	19.37:g.33587298C>T		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	152	73	0.480263	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			C|0.991;T|0.009	0.009	strong		0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33587298	C	T	33587298	2	4	22	1	0	0	0	0	0	0	0	1	6590	755	27	1		1	GPATCH1	19	33587298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8170	33587298	25541685	9761	14869										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33600764	33600764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagcagcagagcccagcTctcccctgcagcggctgctg	12	16	2	2	rs2287679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33600764T>C	ENST00000170564.2	+	11	1741	c.1427T>C	c.(1426-1428)cTc>cCc	p.L476P		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	476			L -> P (in dbSNP:rs2287679). {ECO:0000269|PubMed:17974005}.		mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAGCCCAGCTCTCCCCTGCA	0.552													C|||	2672	0.533546	0.8003	0.2867	5008	,	,		16368	0.5079		0.2416	False		,,,				2504	0.6748				p.L476P	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.T1427C						PASS	.	C	PRO/LEU	3203,1203	401.0+/-331.8	1159,885,159	39	40	40		1427	5.7	0.1	19	dbSNP_100	40	2297,6303	678.3+/-403.4	281,1735,2284	yes	missense	GPATCH1	NM_018025.2	98	1440,2620,2443	CC,CT,TT		26.7093,27.3037,42.2882	benign	476/932	33600764	5500,7506	2203	4300	6503	SO:0001583	missense	55094	exon11			CCCAGCTCTCCCC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1427T>C	19.37:g.33600764T>C	ENSP00000170564:p.Leu476Pro	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	75	75	1	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	970	0.4441391941391941	386	0.7845528455284553	107	0.2955801104972376	285	0.4982517482517482	192	0.2532981530343008	C	2.963	-0.214135	0.06101	0.726963	0.267093	ENSG00000076650	ENST00000170564	T	0.30182	1.54	5.74	5.74	0.90152	.	0.773566	0.12715	N	0.445174	T	0.00012	0.0000	N	0.01081	-1.03	0.41672	P	0.010757000000000017	B	0.02656	0.0	B	0.04013	0.001	T	0.30679	-0.9970	9	0.30078	T	0.28	-0.2351	9.4371	0.38646	0.0:0.7817:0.0:0.2183	rs2287679;rs57097144;rs2287679	476	Q9BRR8	GPTC1_HUMAN	P	476	ENSP00000170564:L476P	ENSP00000170564:L476P	L	+	2	0	GPATCH1	38292604	0.001000	0.12720	0.127000	0.21898	0.004000	0.04260	1.138000	0.31491	1.454000	0.47793	-0.119000	0.15052	CTC	T|0.541;C|0.459	0.459	strong		0.552	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33600764	T	C	33600764	3	2	22	1	0	0	0	0	1	0	0	0	6590	1551	54	3	1469	3	GPATCH1	19	33600764	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13466	33600764	25528219	9762	14870										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33605300	33605300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtaaacaaagaggaagagcAtgcaccagaattatccgcaa	9	8	0	3	rs10416265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33605300A>G	ENST00000170564.2	+	15	2485	c.2171A>G	c.(2170-2172)cAt>cGt	p.H724R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	724			H -> R (in dbSNP:rs10416265). {ECO:0000269|PubMed:17974005}.		mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGGAAGAGCATGCACCAGAA	0.438													G|||	2967	0.592452	0.7239	0.3386	5008	,	,		18961	0.8433		0.2475	False		,,,				2504	0.6912				p.H724R	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.A2171G						PASS	.	G	ARG/HIS	2963,1443	466.2+/-354.4	998,967,238	70	77	75		2171	-8.9	0	19	dbSNP_119	75	2340,6260	703.4+/-405.3	294,1752,2254	yes	missense	GPATCH1	NM_018025.2	29	1292,2719,2492	GG,GA,AA		27.2093,32.7508,40.7735	benign	724/932	33605300	5303,7703	2203	4300	6503	SO:0001583	missense	55094	exon15			AAGAGCATGCACC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2171A>G	19.37:g.33605300A>G	ENSP00000170564:p.His724Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	1164	0.532967032967033	358	0.7276422764227642	116	0.32044198895027626	493	0.8618881118881119	197	0.2598944591029024	G	3.646	-0.072520	0.07228	0.672492	0.272093	ENSG00000076650	ENST00000170564	T	0.20332	2.08	5.32	-8.87	0.00792	.	1.955520	0.02032	N	0.048608	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24764	-1.0151	9	0.14656	T	0.56	4.8647	9.3731	0.38266	0.2957:0.3351:0.3692:0.0	rs10416265;rs60644468;rs10416265	724;724	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	R	724	ENSP00000170564:H724R	ENSP00000170564:H724R	H	+	2	0	GPATCH1	38297140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.933000	0.01553	-2.702000	0.00398	-0.748000	0.03510	CAT	A|0.517;G|0.483	0.483	strong		0.438	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		G	33605300	A	G	33605300	3	3	22	1	0	0	0	0	1	0	0	0	6590	217	8	2	2229	2	GPATCH1	19	33605300	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4536	33605300	25523683	9763	14871										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33605312	33605312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagagcatgcaccagaatTatccgcaaatcaggtatttg	10	8	1	2	rs10421769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33605312T>C	ENST00000170564.2	+	15	2497	c.2183T>C	c.(2182-2184)tTa>tCa	p.L728S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	728			L -> S (in dbSNP:rs10421769). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCACCAGAATTATCCGCAAAT	0.458													C|||	3857	0.770168	0.9697	0.7017	5008	,	,		18803	0.9901		0.3489	False		,,,				2504	0.7556				p.L728S	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.T2183C						PASS	.	C	SER/LEU	3851,555	247.8+/-255.9	1691,469,43	65	71	69		2183	5.3	0	19	dbSNP_119	69	3121,5479	657.3+/-401.5	558,2005,1737	yes	missense	GPATCH1	NM_018025.2	145	2249,2474,1780	CC,CT,TT		36.2907,12.5965,46.394	benign	728/932	33605312	6972,6034	2203	4300	6503	SO:0001583	missense	55094	exon15			CAGAATTATCCGC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2183T>C	19.37:g.33605312T>C	ENSP00000170564:p.Leu728Ser	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	1530	0.7005494505494505	476	0.967479674796748	225	0.6215469613259669	567	0.9912587412587412	262	0.34564643799472294	C	3.637	-0.074302	0.07184	0.874035	0.362907	ENSG00000076650	ENST00000170564	T	0.17854	2.25	5.32	5.32	0.75619	.	0.723385	0.14206	N	0.334384	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.35276	-0.9795	9	0.08837	T	0.75	-0.0798	11.6747	0.51424	0.0:0.9185:0.0:0.0815	rs10421769;rs17317363;rs57920383;rs10421769	728;728	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	S	728	ENSP00000170564:L728S	ENSP00000170564:L728S	L	+	2	0	GPATCH1	38297152	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	2.751000	0.47508	1.248000	0.43934	-0.128000	0.14901	TTA	T|0.380;C|0.620	0.620	strong		0.458	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33605312	T	C	33605312	3	2	22	1	0	0	0	0	1	0	0	0	6590	1764	61	2	2241	2	GPATCH1	19	33605312	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	12	33605312	25523671	9764	14872										
WDR88	126248	hgsc.bcm.edu	37	chr19	33666345	33666345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccatcttcaagagtgacaCctcttctgaaatgttcaccc	5	14	5	3	rs77589178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33666345C>A	ENST00000355868.3	+	11	1362	c.1286C>A	c.(1285-1287)aCc>aAc	p.T429N	CTD-2540B15.10_ENST00000590117.1_RNA|WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	429										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAGAGTGACACCTCTTCTGAA	0.478													C|||	111	0.0221645	0.0832	0.0014	5008	,	,		20731	0.0		0.0	False		,,,				2504	0.0				p.T429N		Atlas-SNP	.											.	WDR88	50	.	0			c.C1286A						PASS	.	C	ASN/THR	263,4143	150.3+/-184.3	11,241,1951	179	171	174		1286	-5.6	0	19	dbSNP_131	174	0,8600		0,0,4300	yes	missense	WDR88	NM_173479.3	65	11,241,6251	AA,AC,CC		0.0,5.9691,2.0221	benign	429/473	33666345	263,12743	2203	4300	6503	SO:0001583	missense	126248	exon11			GTGACACCTCTTC	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1286C>A	19.37:g.33666345C>A	ENSP00000348129:p.Thr429Asn	Somatic	257	1	0.00389105		WXS	Illumina HiSeq	Phase_I	224	103	0.459821	NM_173479	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	46	0.021062271062271064	45	0.09146341463414634	1	0.0027624309392265192	0	0.0	0	0.0	C	4.208	0.037382	0.08148	0.059691	0.0	ENSG00000166359	ENST00000355868	T	0.56941	0.43	4.92	-5.61	0.02489	.	3.589250	0.00520	N	0.000190	T	0.01189	0.0039	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.04140	-1.0974	10	0.40728	T	0.16	.	0.5128	0.00598	0.4107:0.1392:0.196:0.2542	.	429	Q6ZMY6	WDR88_HUMAN	N	429	ENSP00000348129:T429N	ENSP00000348129:T429N	T	+	2	0	WDR88	38358185	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.093000	0.03362	-0.598000	0.05806	-0.314000	0.08810	ACC	C|0.975;A|0.025	0.025	strong		0.478	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		A	33666345	C	A	33666345	3	1	22	1	0	0	0	0	1	0	0	0	17332	507	18	4	1328	4	WDR88	19	33666345	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61033	33666345	25462638	9765	14873										
LRP3	4037	hgsc.bcm.edu	37	chr19	33696897	33696897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggcattgtgccagcggCcgagacgagcagggctgccc	17	12	0	1	rs11084712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33696897C>T	ENST00000253193.7	+	5	1423	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	407					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GTGCCAGCGGCCGAGACGAGC	0.682													C|||	1298	0.259185	0.1672	0.3761	5008	,	,		13617	0.2262		0.2207	False		,,,				2504	0.3742				p.G407G		Atlas-SNP	.											LRP3,rectum,carcinoma,0,2	LRP3	46	2	0			c.C1221T						PASS	.	C		667,3667		52,563,1552	9	9	9		1221	3	1	19	dbSNP_120	9	1559,6947		146,1267,2840	no	coding-synonymous	LRP3	NM_002333.3		198,1830,4392	TT,TC,CC		18.3282,15.3899,17.3364		407/771	33696897	2226,10614	2167	4253	6420	SO:0001819	synonymous_variant	4037	exon5			CAGCGGCCGAGAC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1221C>T	19.37:g.33696897C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	49	26	0.530612	NM_002333	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																			C|0.769;T|0.231	0.231	strong		0.682	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33696897	C	T	33696897	2	4	22	1	0	0	0	0	0	0	0	1	8958	726	26	2		2	LRP3	19	33696897	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30552	33696897	25432086	9766	14874										
PEPD	5184	hgsc.bcm.edu	37	chr19	33968991	33968991	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaatggtattgttgactTcgaacctgtagggcgaaaag	13	5	0	2	rs61748998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:33968991T>A	ENST00000244137.7	-	7	542	c.509A>T	c.(508-510)gAa>gTa	p.E170V	PEPD_ENST00000397032.4_Missense_Mutation_p.E170V|PEPD_ENST00000436370.3_Missense_Mutation_p.E106V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	170					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					ATTGTTGACTTCGAACCTGTA	0.488													T|||	77	0.0153754	0.0567	0.0	5008	,	,		21814	0.0		0.002	False		,,,				2504	0.0				p.E170V		Atlas-SNP	.											.	PEPD	48	.	0			c.A509T						PASS	.	T	VAL/GLU,VAL/GLU,VAL/GLU	155,3897		4,147,1875	87	88	88		509,509,317	3.6	1	19	dbSNP_129	88	1,8361		0,1,4180	yes	missense,missense,missense	PEPD	NM_000285.3,NM_001166056.1,NM_001166057.1	121,121,121	4,148,6055	AA,AT,TT		0.012,3.8253,1.2566	benign,benign,benign	170/494,170/453,106/430	33968991	156,12258	2026	4181	6207	SO:0001583	missense	5184	exon7			TTGACTTCGAACC	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.509A>T	19.37:g.33968991T>A	ENSP00000244137:p.Glu170Val	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	157	80	0.509554	NM_000285	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	CCDS42544.1	19	0.0086996336996337	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	8.903	0.956821	0.18507	0.038253	1.2E-4	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.79749	-1.03;-0.93;-1.3	5.7	3.56	0.40772	.	0.722777	0.15080	N	0.281739	T	0.32194	0.0821	N	0.13168	0.305	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.31052	-0.9957	10	0.24483	T	0.36	-4.3759	10.1383	0.42719	0.0:0.0:0.3228:0.6772	rs61748998	106;170;170	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	V	170;170;106	ENSP00000244137:E170V;ENSP00000380226:E170V;ENSP00000391890:E106V	ENSP00000244137:E170V	E	-	2	0	PEPD	38660831	1.000000	0.71417	0.994000	0.49952	0.574000	0.36063	0.933000	0.28897	0.387000	0.25024	0.533000	0.62120	GAA	T|0.978;A|0.022	0.022	strong		0.488	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		A	33968991	T	A	33968991	3	1	22	1	0	0	0	0	1	0	0	0	11728	1783	62	5	1008	5	PEPD	19	33968991	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	272094	33968991	25159992	9767	14875										
LSM14A	26065	hgsc.bcm.edu	37	chr19	34706531	34706531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaagtttcaaggccagaaaAtgagcaactcagaaatgata	8	7	2	4	rs73929373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:34706531A>G	ENST00000433627.5	+	6	821	c.746A>G	c.(745-747)aAt>aGt	p.N249S	LSM14A_ENST00000544216.3_Missense_Mutation_p.N249S|LSM14A_ENST00000540746.2_Missense_Mutation_p.N208S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	249					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGCCAGAAAATGAGCAACTC	0.348													A|||	598	0.119409	0.2526	0.1859	5008	,	,		17565	0.0268		0.0249	False		,,,				2504	0.0849				p.N249S		Atlas-SNP	.											.	LSM14A	44	.	0			c.A746G						PASS	.	A	SER/ASN,SER/ASN	942,3464	357.6+/-314.0	111,720,1372	105	99	101		746,746	3.5	1	19	dbSNP_130	101	283,8317	105.4+/-166.3	8,267,4025	yes	missense,missense	LSM14A	NM_001114093.1,NM_015578.2	46,46	119,987,5397	GG,GA,AA		3.2907,21.3799,9.4187	benign,benign	249/464,249/464	34706531	1225,11781	2203	4300	6503	SO:0001583	missense	26065	exon6			CAGAAAATGAGCA	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.746A>G	19.37:g.34706531A>G	ENSP00000413964:p.Asn249Ser	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	92	43	0.467391	NM_001114093	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	203	0.09294871794871795	126	0.25609756097560976	50	0.13812154696132597	10	0.017482517482517484	17	0.022427440633245383	a	11.36	1.614331	0.28712	0.213799	0.032907	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32988	1.44;1.43;1.51	5.67	3.45	0.39498	.	0.584793	0.21286	N	0.077070	T	0.00012	0.0000	L	0.34521	1.04	0.32771	P	0.503819	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.14023	0.002;0.01;0.001	T	0.30995	-0.9959	9	0.07325	T	0.83	-9.8271	7.9304	0.29899	0.6192:0.3076:0.0732:0.0	.	208;249;249	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	249;249;208	ENSP00000446271:N249S;ENSP00000413964:N249S;ENSP00000446451:N208S	ENSP00000314768:N249S	N	+	2	0	LSM14A	39398371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.253000	0.32886	1.085000	0.41206	0.533000	0.62120	AAT	A|0.908;G|0.092	0.092	strong		0.348	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34706531	A	G	34706531	3	3	22	1	0	0	0	0	1	0	0	0	9054	101	4	2	768	2	LSM14A	19	34706531	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	737540	34706531	24422452	9768	14876										
GPI	2821	hgsc.bcm.edu	37	chr19	34872382	34872382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttgtagaccaaagtgaaGgagtttggaattgaccctca	10	6	1	3	rs1864139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:34872382G>A	ENST00000356487.5	+	9	1003	c.762G>A	c.(760-762)aaG>aaA	p.K254K	GPI_ENST00000586425.1_Silent_p.K254K|GPI_ENST00000415930.3_Silent_p.K265K	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	254					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAAGTGAAGGAGTTTGGAA	0.468													G|||	601	0.120008	0.2443	0.0764	5008	,	,		21611	0.002		0.0507	False		,,,				2504	0.1759				p.K265K		Atlas-SNP	.											GPI,NS,carcinoma,+1,1	GPI	63	1	0			c.G795A						scavenged	.	G	,	907,3499	345.1+/-308.4	92,723,1388	165	166	165		762,795	1.7	1	19	dbSNP_92	165	441,8159	132.2+/-189.8	12,417,3871	no	coding-synonymous,coding-synonymous	GPI	NM_000175.3,NM_001184722.1	,	104,1140,5259	AA,AG,GG		5.1279,20.5856,10.3644	,	254/559,265/570	34872382	1348,11658	2203	4300	6503	SO:0001819	synonymous_variant	2821	exon9			AGTGAAGGAGTTT	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.762G>A	19.37:g.34872382G>A		Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	135	80	0.592593	NM_001184722	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	CCDS12437.1																																																																																			G|0.897;A|0.103	0.103	strong		0.468	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			A	34872382	G	A	34872382	2	1	22	1	0	0	0	0	0	0	0	1	6611	991	35	2		2	GPI	19	34872382	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165851	34872382	24256601	9769	14877										
ZNF30	90075	hgsc.bcm.edu	37	chr19	35422808	35422808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatgtggccatagccttctCccagcaggagtgggagagtc	15	10	1	1	rs10422961	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35422808C>T	ENST00000601142.1	+	3	308	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF30_ENST00000601957.1_Missense_Mutation_p.S24F|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.S24F|ZNF30_ENST00000439785.1_Missense_Mutation_p.S24F			P17039	ZNF30_HUMAN	zinc finger protein 30	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.			S -> F (in Ref. 1; BAG58432). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATAGCCTTCTCCCAGCAGGAG	0.463													C|||	1443	0.288139	0.2693	0.232	5008	,	,		20449	0.2202		0.3618	False		,,,				2504	0.3476				p.S24F		Atlas-SNP	.											ZNF30,colon,carcinoma,0,1	ZNF30	44	1	0			c.C71T						PASS	.	C	PHE/SER,PHE/SER,PHE/SER	1094,3212		155,784,1214	79	85	83		71,71,71	1.5	1	19	dbSNP_119	83	2777,5777		466,1845,1966	yes	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	155,155,155	621,2629,3180	TT,TC,CC		32.4643,25.4064,30.1011	benign,benign,benign	24/625,24/625,24/624	35422808	3871,8989	2153	4277	6430	SO:0001583	missense	90075	exon3			CCTTCTCCCAGCA	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.71C>T	19.37:g.35422808C>T	ENSP00000469954:p.Ser24Phe	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_001099438	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	637	0.2916666666666667	128	0.2601626016260163	93	0.2569060773480663	136	0.23776223776223776	280	0.36939313984168864	C	11.43	1.637390	0.29157	0.254064	0.324643	ENSG00000168661	ENST00000439785;ENST00000303586	T;T	0.02944	4.1;4.1	1.55	1.55	0.23275	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	H	0.98701	4.305	0.09310	P	0.999999999831031	P;B	0.39903	0.694;0.031	B;B	0.41236	0.351;0.021	T	0.15235	-1.0444	8	0.72032	D	0.01	.	6.5714	0.22541	0.0:1.0:0.0:0.0	rs10422961;rs10422961	24;24	P17039-2;P17039	.;ZNF30_HUMAN	F	24	ENSP00000403441:S24F;ENSP00000303889:S24F	ENSP00000303889:S24F	S	+	2	0	ZNF30	40114648	0.676000	0.27567	0.991000	0.47740	0.971000	0.66376	1.149000	0.31626	1.167000	0.42706	0.514000	0.50259	TCC	C|0.700;T|0.300	0.300	strong		0.463	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		T	35422808	C	T	35422808	3	4	22	1	0	0	0	0	1	0	0	0	17827	855	30	2	77	2	ZNF30	19	35422808	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	550426	35422808	23706175	9770	14878										
ZNF30	90075	hgsc.bcm.edu	37	chr19	35434238	35434238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagaaaccacgtgaatgtcAggaatatggaaagacccttt	9	8	1	3	rs386808878|rs1811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35434238A>G	ENST00000601142.1	+	5	605	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.Q42R|ZNF30_ENST00000303586.7_Missense_Mutation_p.Q124R|ZNF30_ENST00000439785.1_Missense_Mutation_p.Q124R			P17039	ZNF30_HUMAN	zinc finger protein 30	123			Q -> R (in dbSNP:rs1811). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15057824, ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CGTGAATGTCAGGAATATGGA	0.388													G|||	2935	0.586062	0.6997	0.3761	5008	,	,		16378	0.6032		0.5119	False		,,,				2504	0.6401				p.Q124R		Atlas-SNP	.											.	ZNF30	44	.	0			c.A371G						PASS	.	G	ARG/GLN,ARG/GLN,ARG/GLN	2464,1286		816,832,227	91	87	88		371,371,368	-0.5	0.1	19	dbSNP_36	88	3901,4325		938,2025,1150	yes	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	43,43,43	1754,2857,1377	GG,GA,AA		47.4228,34.2933,46.852	benign,benign,benign	124/625,124/625,123/624	35434238	6365,5611	1875	4113	5988	SO:0001583	missense	90075	exon5			AATGTCAGGAATA	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.368A>G	19.37:g.35434238A>G	ENSP00000469954:p.Gln123Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	75	0.986842	NM_001099438	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	1240	0.5677655677655677	341	0.693089430894309	159	0.43922651933701656	357	0.6241258741258742	383	0.5052770448548812	G	5.442	0.266597	0.10294	0.657067	0.474228	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.27890	1.64;1.64	1.91	-0.504	0.11997	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.15870	0.014;0.003	T	0.29761	-1.0001	8	0.41790	T	0.15	.	6.151	0.20313	0.8252:0.0:0.1748:0.0	rs1811;rs3193069;rs52822507;rs58128455;rs1811	124;123	P17039-2;P17039	.;ZNF30_HUMAN	R	124;123;42	ENSP00000403441:Q124R;ENSP00000416457:Q42R	ENSP00000303889:Q123R	Q	+	2	0	ZNF30	40126078	0.000000	0.05858	0.103000	0.21229	0.005000	0.04900	-3.046000	0.00630	-0.594000	0.05836	-2.522000	0.00184	CAG	A|0.410;G|0.590	0.590	strong		0.388	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		G	35434238	A	G	35434238	3	3	22	1	0	0	0	0	1	0	0	0	17827	188	7	3	385	3	ZNF30	19	35434238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11430	35434238	23694745	9771	14879										
ZNF30	90075	hgsc.bcm.edu	37	chr19	35434512	35434512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatgtggaaagactattagTggtagctatcaacttacagt	9	6	1	1	rs2651109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35434512T>C	ENST00000601142.1	+	5	879	c.642T>C	c.(640-642)agT>agC	p.S214S	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Silent_p.S133S|ZNF30_ENST00000303586.7_Silent_p.S215S|ZNF30_ENST00000439785.1_Silent_p.S215S			P17039	ZNF30_HUMAN	zinc finger protein 30	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AGACTATTAGTGGTAGCTATC	0.418													C|||	3272	0.653355	0.9402	0.4049	5008	,	,		22288	0.6052		0.5129	False		,,,				2504	0.636				p.S215S		Atlas-SNP	.											.	ZNF30	44	.	0			c.T645C						PASS	.	C	,,	3461,581		1492,477,52	41	45	44		645,645,642	-1.7	0	19	dbSNP_100	44	4040,4416		972,2096,1160	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	,,	2464,2573,1212	CC,CT,TT		47.7767,14.3741,39.9824	,,	215/625,215/625,214/624	35434512	7501,4997	2021	4228	6249	SO:0001819	synonymous_variant	90075	exon5			TATTAGTGGTAGC	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.642T>C	19.37:g.35434512T>C		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	110	108	0.981818	NM_001099438	A5PLP1|A8K320|B4DIC0|Q6N068	Silent	SNP	ENST00000601142.1	37	CCDS46045.1																																																																																			T|0.345;C|0.655	0.655	strong		0.418	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		C	35434512	T	C	35434512	2	2	22	1	0	0	0	0	0	0	0	1	17827	1693	59	2		2	ZNF30	19	35434512	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	274	35434512	23694471	9772	14880										
ZNF30	90075	hgsc.bcm.edu	37	chr19	35435006	35435006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggatgcaaggaatgcgggaGaaccttcagtcgtgcctcat	13	10	2	1	rs1345658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35435006G>A	ENST00000601142.1	+	5	1373	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R298K|ZNF30_ENST00000303586.7_Missense_Mutation_p.R380K|ZNF30_ENST00000439785.1_Missense_Mutation_p.R380K			P17039	ZNF30_HUMAN	zinc finger protein 30	379			R -> K (in dbSNP:rs1345658). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAATGCGGGAGAACCTTCAGT	0.473													A|||	3267	0.652356	0.9402	0.4049	5008	,	,		24938	0.6002		0.5129	False		,,,				2504	0.636				p.R380K		Atlas-SNP	.											.	ZNF30	44	.	0			c.G1139A						PASS	.	A	LYS/ARG,LYS/ARG,LYS/ARG	3758,644	244.0+/-253.5	1612,534,55	71	81	78		1139,1139,1136	2.1	0	19	dbSNP_88	78	4065,4533	577.1+/-390.5	971,2123,1205	yes	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	26,26,26	2583,2657,1260	AA,AG,GG		47.2784,14.6297,39.8231	benign,benign,benign	380/625,380/625,379/624	35435006	7823,5177	2201	4299	6500	SO:0001583	missense	90075	exon5			GCGGGAGAACCTT	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1136G>A	19.37:g.35435006G>A	ENSP00000469954:p.Arg379Lys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	134	133	0.992537	NM_001099438	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	1374	0.6291208791208791	464	0.943089430894309	169	0.46685082872928174	358	0.6258741258741258	383	0.5052770448548812	a	0.695	-0.793153	0.02862	0.853703	0.472784	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.10288	2.89;2.89	2.07	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00765	-1.205	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23013	-1.0200	8	0.02654	T	1	.	5.3836	0.16206	0.8393:0.0:0.1607:0.0	rs1345658;rs3826987;rs52837481;rs61057657;rs1345658	380;379	P17039-2;P17039	.;ZNF30_HUMAN	K	380;379;298;88	ENSP00000403441:R380K;ENSP00000416457:R298K	ENSP00000303889:R379K	R	+	2	0	ZNF30	40126846	0.966000	0.33281	0.005000	0.12908	0.001000	0.01503	2.619000	0.46401	0.080000	0.16959	-0.773000	0.03387	AGA	G|0.345;T|0.003	.	strong		0.473	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		A	35435006	G	A	35435006	3	1	22	1	0	0	0	0	1	0	0	0	17827	942	33	2	1153	2	ZNF30	19	35435006	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	494	35435006	23693977	9773	14881										
ZNF792	126375	hgsc.bcm.edu	37	chr19	35449409	35449409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccacactcaccacacccGtgaggccgctcgccagtgtg	9	18	1	1	rs2651081	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35449409G>A	ENST00000404801.1	-	4	1736	c.1350C>T	c.(1348-1350)caC>caT	p.H450H	ZNF792_ENST00000605484.1_Silent_p.H383H	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H371H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCACACCCGTGAGGCCGCT	0.502													G|||	1639	0.327276	0.4841	0.1859	5008	,	,		21139	0.2034		0.329	False		,,,				2504	0.3415				p.H450H	GBM(1;7 183 21053 22581 22847)	Atlas-SNP	.											FLJ38451,NS,carcinoma,0,1	ZNF792	46	1	1	Substitution - coding silent(1)	stomach(1)	c.C1350T						PASS	.	G		1953,2453	554.8+/-379.1	408,1137,658	117	115	116		1350	-0.8	0	19	dbSNP_100	116	2546,6054	416.0+/-352.0	383,1780,2137	no	coding-synonymous	ZNF792	NM_175872.4		791,2917,2795	AA,AG,GG		29.6047,44.3259,34.5917		450/633	35449409	4499,8507	2203	4300	6503	SO:0001819	synonymous_variant	126375	exon4			ACACCCGTGAGGC	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1350C>T	19.37:g.35449409G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	CCDS12440.2																																																																																			G|0.659;A|0.341	0.341	strong		0.502	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		A	35449409	G	A	35449409	2	1	22	1	0	0	0	0	0	0	0	1	18161	1136	40	1		1	ZNF792	19	35449409	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14403	35449409	23679574	9774	14882										
ZNF792	126375	hgsc.bcm.edu	37	chr19	35449760	35449760	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacgtgagggctttcaccGgtgtgaaccctgcgatgttt	12	11	1	2	rs2651080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35449760G>C	ENST00000404801.1	-	4	1385	c.999C>G	c.(997-999)acC>acG	p.T333T	ZNF792_ENST00000605484.1_Silent_p.T266T	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTTTCACCGGTGTGAACCC	0.478													G|||	1615	0.322484	0.4652	0.1844	5008	,	,		20270	0.2034		0.33	False		,,,				2504	0.3425				p.T333T	GBM(1;7 183 21053 22581 22847)	Atlas-SNP	.											ZNF792,NS,carcinoma,-1,2	ZNF792	46	2	0			c.C999G						PASS	.	G		1845,2561	530.8+/-373.0	370,1105,728	61	58	59		999	-4.1	0.3	19	dbSNP_100	59	2542,6058	407.7+/-349.2	384,1774,2142	no	coding-synonymous	ZNF792	NM_175872.4		754,2879,2870	CC,CG,GG		29.5581,41.8747,33.7306		333/633	35449760	4387,8619	2203	4300	6503	SO:0001819	synonymous_variant	126375	exon4			TTCACCGGTGTGA	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.999C>G	19.37:g.35449760G>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	CCDS12440.2																																																																																			G|0.671;C|0.329	0.329	strong		0.478	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		C	35449760	G	C	35449760	2	2	22	1	0	0	0	0	0	0	0	1	18161	1103	39	4		4	ZNF792	19	35449760	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	351	35449760	23679223	9775	14883										
ZNF792	126375	hgsc.bcm.edu	37	chr19	35450229	35450229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttctgctgcacctgtttcCggggaaggtttgcactgaac	12	11	1	1	rs2651079	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35450229C>T	ENST00000404801.1	-	4	916	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R110Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	177			R -> Q (in dbSNP:rs2651079). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCTGTTTCCGGGGAAGGTT	0.507													T|||	3136	0.626198	0.9123	0.3991	5008	,	,		21491	0.5942		0.5149	False		,,,				2504	0.5481				p.R177Q	GBM(1;7 183 21053 22581 22847)	Atlas-SNP	.											.	ZNF792	46	.	0			c.G530A						PASS	.	T	GLN/ARG	3665,741	301.5+/-286.9	1531,603,69	252	246	248		530	-0.2	0	19	dbSNP_100	248	4068,4532	594.2+/-393.3	969,2130,1201	yes	missense	ZNF792	NM_175872.4	43	2500,2733,1270	TT,TC,CC		47.3023,16.818,40.5428	benign	177/633	35450229	7733,5273	2203	4300	6503	SO:0001583	missense	126375	exon4			TGTTTCCGGGGAA	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.530G>A	19.37:g.35450229C>T	ENSP00000385099:p.Arg177Gln	Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	330	327	0.990909	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	1362	0.6236263736263736	454	0.9227642276422764	168	0.46408839779005523	355	0.6206293706293706	385	0.5079155672823219	t	0.114	-1.134845	0.01742	0.83182	0.473023	ENSG00000180884	ENST00000404801	T	0.04862	3.54	3.16	-0.202	0.13208	.	.	.	.	.	T	0.00012	0.0000	N	0.01431	-0.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	8	0.02654	T	1	.	2.9579	0.05882	0.3482:0.3338:0.0:0.3179	rs2651079;rs52801030;rs58153206;rs2651079	177	Q3KQV3	ZN792_HUMAN	Q	177	ENSP00000385099:R177Q	ENSP00000385099:R177Q	R	-	2	0	ZNF792	40142069	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	-0.565000	0.05929	-0.420000	0.07427	-0.516000	0.04426	CGG	C|0.367;T|0.633	0.633	strong		0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		T	35450229	C	T	35450229	3	4	22	1	0	0	0	0	1	0	0	0	18161	652	23	1	1372	1	ZNF792	19	35450229	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	469	35450229	23678754	9776	14884										
SCN1B	6324	hgsc.bcm.edu	37	chr19	35524824	35524824	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagctctggcctctgtttcTctccagcccacggagaggtc	10	16	3	1	rs55742440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35524824T>C	ENST00000262631.5	+	3	585				SCN1B_ENST00000596348.1_Intron|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Missense_Mutation_p.L210P	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit						axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCTGTTTCTCTCCAGCCCA	0.657													C|||	1891	0.377596	0.5378	0.389	5008	,	,		17595	0.2411		0.3897	False		,,,				2504	0.2812				p.L210P		Atlas-SNP	.											.	SCN1B	32	.	0			c.T629C						PASS	.	C	,PRO/LEU	1290,1244		337,616,314	24	33	30		,629	-1.9	0	19	dbSNP_129	30	1675,2827		323,1029,899	yes	intron,missense	SCN1B	NM_001037.4,NM_199037.3	,98	660,1645,1213	CC,CT,TT		37.2057,49.0923,42.1404	,probably-damaging	,210/269	35524824	2965,4071	1267	2251	3518	SO:0001627	intron_variant	6324	exon3			TGTTTCTCTCCAG		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.448+181T>C	19.37:g.35524824T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	55	0.625	NM_199037	Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	CCDS12441.1	830	0.38003663003663	265	0.5386178861788617	143	0.39502762430939226	129	0.22552447552447552	293	0.3865435356200528	C	8.351	0.830987	0.16820	0.509077	0.372057	ENSG00000105711	ENST00000415950	D	0.90900	-2.75	3.94	-1.91	0.07641	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	6	.	.	.	-33.9385	8.8207	0.35025	0.0:0.3335:0.0:0.6665	rs55742440	210	Q07699-2	.	P	210	ENSP00000396915:L210P	.	L	+	2	0	SCN1B	40216664	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.005000	0.13129	-0.396000	0.07703	-1.016000	0.02456	CTC	T|0.619;C|0.381	0.381	strong		0.657	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			C	35524824	T	C	35524824	1	2	22	0	1	0	0	0	0	0	0	0	13915	1551	54	3		3	SCN1B	19	35524824	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74595	35524824	23604159	9777	14885										
FXYD3	5349	hgsc.bcm.edu	37	chr19	35612168	35612168	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgagagcccgtgcccccTttcccctccccacaacccca	7	21	0	1	rs1688016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35612168T>A	ENST00000344013.6	+	5	293				FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000454903.2_Missense_Mutation_p.L39H|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000605552.1_Missense_Mutation_p.L39H|FXYD3_ENST00000603449.1_Missense_Mutation_p.L39H|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000605677.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000435734.2_Intron			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L39H(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGTGCCCCCTTTCCCCTCCC	0.517													A|||	1783	0.35603	0.2958	0.2493	5008	,	,		16537	0.2679		0.3698	False		,,,				2504	0.59				p.L39H		Atlas-SNP	.											.	FXYD3	15	.	1	Substitution - Missense(1)	kidney(1)	c.T116A						PASS	.	A	,,HIS/LEU,HIS/LEU,,,,	1396,3010	687.1+/-404.8	215,966,1022	69	73	71		,,116,116,,,,	0.7	0	19	dbSNP_89	71	3066,5534	658.0+/-401.5	527,2012,1761	yes	intron,intron,missense,missense,intron,intron,intron,intron	FXYD3	NM_001136007.1,NM_001136008.1,NM_001136009.1,NM_001136010.1,NM_001136011.1,NM_001136012.1,NM_005971.3,NM_021910.2	,,99,99,,,,	742,2978,2783	AA,AT,TT		35.6512,31.6841,34.3072	,,,,,,,	,,39/62,39/62,,,,	35612168	4462,8544	2203	4300	6503	SO:0001627	intron_variant	5349	exon5			GCCCCCTTTCCCC	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"FXYD domain-containing ion transport regulator 3"	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.97+19T>A	19.37:g.35612168T>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	250	248	0.992	NM_001136010	A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	CCDS12442.1	668	0.3058608058608059	157	0.31910569105691056	85	0.23480662983425415	137	0.2395104895104895	289	0.3812664907651715	A	2.768	-0.256355	0.05829	0.316841	0.356512	ENSG00000089356	ENST00000454903	.	.	.	2.85	0.693	0.18056	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45745	-0.9240	5	.	.	.	.	2.5324	0.04706	0.2797:0.4271:0.0:0.2932	rs1688016	39	C9JDU2	.	H	39	.	.	L	+	2	0	FXYD3	40304008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.057000	0.11768	-0.034000	0.13713	-0.336000	0.08194	CTT	T|0.672;A|0.328	0.328	strong		0.517	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		A	35612168	T	A	35612168	1	1	22	0	1	0	0	0	0	0	0	0	6119	1609	56	5		5	FXYD3	19	35612168	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	87344	35612168	23516815	9778	14886										
LGI4	163175	hgsc.bcm.edu	37	chr19	35616316	35616316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgcctaggatggccagCtggtccctggcgatgagcag	15	12	0	1	rs12610234|rs36102542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35616316C>T	ENST00000310123.3	-	9	1914	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	LGI4_ENST00000392225.3_Missense_Mutation_p.S491N|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	465					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATGGCCAGCTGGTCCCTGG	0.667													C|||	1804	0.360224	0.3132	0.2493	5008	,	,		14380	0.2679		0.3698	False		,,,				2504	0.5879				p.Q465Q		Atlas-SNP	.											.	LGI4	32	.	0			c.G1395A						PASS	.	C		1450,2956		229,992,982	22	22	22		1395	5.1	1	19	dbSNP_120	22	3054,5544		529,1996,1774	no	coding-synonymous	LGI4	NM_139284.2		758,2988,2756	TT,TC,CC		35.5199,32.9097,34.6355		465/538	35616316	4504,8500	2203	4299	6502	SO:0001819	synonymous_variant	163175	exon9			GGCCAGCTGGTCC	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1395G>A	19.37:g.35616316C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	180	180	1	NM_139284	B2RN53|B9EGS7|Q5M8T1	Silent	SNP	ENST00000310123.3	37	CCDS12444.1	601	0.2751831501831502	143	0.29065040650406504	78	0.2154696132596685	125	0.21853146853146854	255	0.33641160949868076	C	15.04	2.716225	0.48622	0.329097	0.355199	ENSG00000153902	ENST00000392225	T	0.68025	-0.3	5.09	5.09	0.68999	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.27938	-1.0059	5	0.87932	D	0	.	9.5979	0.39584	0.0:0.9042:0.0:0.0958	rs12610234	.	.	.	N	491	ENSP00000376059:S491N	ENSP00000376059:S491N	S	-	2	0	LGI4	40308156	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.746000	0.38288	2.363000	0.80096	0.484000	0.47621	AGC	C|0.678;T|0.322	0.322	strong		0.667	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			T	35616316	C	T	35616316	2	4	22	1	0	0	0	0	0	0	0	1	8754	796	28	2		2	LGI4	19	35616316	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4148	35616316	23512667	9779	14887										
LGI4	163175	hgsc.bcm.edu	37	chr19	35617270	35617270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcggcctcggggatgtcTgtgcgtctctcgaagcggcc	14	14	2	0	rs1319969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35617270T>C	ENST00000310123.3	-	8	1722	c.1203A>G	c.(1201-1203)acA>acG	p.T401T	LGI4_ENST00000392225.3_Missense_Mutation_p.Q427R|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	401					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGGGATGTCTGTGCGTCTCT	0.667													T|||	1835	0.366414	0.3359	0.2493	5008	,	,		13875	0.2669		0.3708	False		,,,				2504	0.589				p.T401T		Atlas-SNP	.											LGI4,NS,carcinoma,0,1	LGI4	32	1	0			c.A1203G						PASS	.	T		1566,2840	452.0+/-349.9	280,1006,917	29	28	28		1203	-9	0.3	19	dbSNP_88	28	3066,5534	438.8+/-359.0	529,2008,1763	no	coding-synonymous	LGI4	NM_139284.2		809,3014,2680	CC,CT,TT		35.6512,35.5424,35.6143		401/538	35617270	4632,8374	2203	4300	6503	SO:0001819	synonymous_variant	163175	exon8			GATGTCTGTGCGT	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1203A>G	19.37:g.35617270T>C		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	67	66	0.985075	NM_139284	B2RN53|B9EGS7|Q5M8T1	Silent	SNP	ENST00000310123.3	37	CCDS12444.1	694	0.31776556776556775	183	0.3719512195121951	85	0.23480662983425415	136	0.23776223776223776	290	0.38258575197889183	T	8.894	0.954608	0.18431	0.355424	0.356512	ENSG00000153902	ENST00000392225	T	0.65732	-0.17	4.51	-9.02	0.00741	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999394594	.	.	.	.	.	.	T	0.39292	-0.9621	5	0.87932	D	0	.	10.368	0.44035	0.0:0.126:0.3738:0.5002	rs1319969;rs3810442;rs17656168;rs61511650	.	.	.	R	427	ENSP00000376059:Q427R	ENSP00000376059:Q427R	Q	-	2	0	LGI4	40309110	0.000000	0.05858	0.336000	0.25522	0.936000	0.57629	-4.585000	0.00212	-2.941000	0.00297	-1.540000	0.00911	CAG	T|0.660;C|0.340	0.340	strong		0.667	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			C	35617270	T	C	35617270	2	2	22	1	0	0	0	0	0	0	0	1	8754	1567	55	3		3	LGI4	19	35617270	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	954	35617270	23511713	9780	14888										
LGI4	163175	hgsc.bcm.edu	37	chr19	35617639	35617639	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagccagcacgaagaggctCgggcccagcaccagtggctt	14	14	0	1	rs1687998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35617639C>G	ENST00000310123.3	-	8	1353	c.834G>C	c.(832-834)ccG>ccC	p.P278P	LGI4_ENST00000392225.3_Missense_Mutation_p.R304P|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	278					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGAAGAGGCTCGGGCCCAGCA	0.741													C|||	1718	0.343051	0.2965	0.2493	5008	,	,		12239	0.254		0.3708	False		,,,				2504	0.5358				p.P278P		Atlas-SNP	.											.	LGI4	32	.	0			c.G834C						PASS	.	C		730,2116		146,438,839	2	3	3		834	-8.7	0.4	19	dbSNP_89	3	1965,4439		401,1163,1638	no	coding-synonymous	LGI4	NM_139284.2		547,1601,2477	GG,GC,CC		30.6839,25.65,29.1351		278/538	35617639	2695,6555	1423	3202	4625	SO:0001819	synonymous_variant	163175	exon8			GAGGCTCGGGCCC	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.834G>C	19.37:g.35617639C>G		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_139284	B2RN53|B9EGS7|Q5M8T1	Silent	SNP	ENST00000310123.3	37	CCDS12444.1	663	0.30357142857142855	157	0.31910569105691056	85	0.23480662983425415	131	0.229020979020979	290	0.38258575197889183	C	8.226	0.803486	0.16397	0.2565	0.306839	ENSG00000153902	ENST00000392225	T	0.63417	-0.04	4.35	-8.69	0.00855	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.39978	P	0.025124000000000035	.	.	.	.	.	.	T	0.14172	-1.0482	4	.	.	.	.	7.4446	0.27203	0.0993:0.1544:0.588:0.1583	rs1687998;rs17712562;rs59273846	.	.	.	P	304	ENSP00000376059:R304P	.	R	-	2	0	LGI4	40309479	0.000000	0.05858	0.378000	0.26068	0.633000	0.38033	-0.796000	0.04575	-1.234000	0.02548	-0.802000	0.03209	CGA	C|0.694;G|0.306	0.306	strong		0.741	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			G	35617639	C	G	35617639	2	3	22	1	0	0	0	0	0	0	0	1	8754	871	31	4		4	LGI4	19	35617639	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	369	35617639	23511344	9781	14889										
FAM187B	148109	hgsc.bcm.edu	37	chr19	35719577	35719577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcagcagccacagcatggGtggcatggtggactggggct	18	9	0	0	rs34873156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35719577G>A	ENST00000324675.3	-	1	55	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	3			P -> S (in dbSNP:rs34873156). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACAGCATGGGTGGCATGGTG	0.612													-|||	864	0.172524	0.112	0.2435	5008	,	,		16647	0.0159		0.3718	False		,,,				2504	0.1605				p.P3S		Atlas-SNP	.											.	FAM187B	28	.	0			c.C7T						PASS	.	G	SER/PRO	590,3804		38,514,1645	25	28	27		7	-3.6	0	19	dbSNP_126	27	3231,5367		596,2039,1664	yes	missense	FAM187B	NM_152481.1	74	634,2553,3309	AA,AG,GG		37.5785,13.4274,29.4104	benign	3/370	35719577	3821,9171	2197	4299	6496	SO:0001583	missense	148109	exon1			GCATGGGTGGCAT	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.7C>T	19.37:g.35719577G>A	ENSP00000323355:p.Pro3Ser	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	43	15	0.348837	NM_152481	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	458	0.2097069597069597	65	0.13211382113821138	92	0.2541436464088398	14	0.024475524475524476	287	0.3786279683377309	G	2.096	-0.407252	0.04832	0.134274	0.375785	ENSG00000177558	ENST00000324675	T	0.21543	2.0	5.3	-3.6	0.04570	.	0.804889	0.11107	N	0.599034	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.46034	-0.9220	9	0.09338	T	0.73	-17.2885	2.0071	0.03480	0.128:0.3374:0.2819:0.2527	rs34873156;rs62111448	3	Q17R55	F187B_HUMAN	S	3	ENSP00000323355:P3S	ENSP00000323355:P3S	P	-	1	0	FAM187B	40411417	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	-1.237000	0.02922	-0.394000	0.07727	-1.105000	0.02106	CCC	G|0.721;A|0.279	0.279	strong		0.612	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35719577	G	A	35719577	3	1	22	1	0	0	0	0	1	0	0	0	5513	1261	44	2	1110	2	FAM187B	19	35719577	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	101938	35719577	23409406	9782	14890										
MAG	4099	hgsc.bcm.edu	37	chr19	35790503	35790503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtggtggcaggcacggaGgtggaggtcagctgcatggt	21	6	1	0	rs3746248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35790503G>A	ENST00000392213.3	+	5	621	c.462G>A	c.(460-462)gaG>gaA	p.E154E	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000361922.4_Silent_p.E154E|MAG_ENST00000537831.2_Silent_p.E129E	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	154	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGGCACGGAGGTGGAGGTCA	0.687													g|||	2010	0.401358	0.7617	0.2435	5008	,	,		7953	0.3512		0.2068	False		,,,				2504	0.2781				p.E154E		Atlas-SNP	.											.	MAG	172	.	0			c.G462A						PASS	.		,,	2934,1472	647.8+/-398.6	993,948,262	29	31	30		387,462,462	1.9	1	19	dbSNP_107	30	1841,6759	313.9+/-311.6	193,1455,2652	no	coding-synonymous,coding-synonymous,coding-synonymous	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	,,	1186,2403,2914	AA,AG,GG		21.407,33.409,36.7138	,,	129/602,154/627,154/583	35790503	4775,8231	2203	4300	6503	SO:0001819	synonymous_variant	4099	exon5			CACGGAGGTGGAG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.462G>A	19.37:g.35790503G>A		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	234	105	0.448718	NM_080600	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																			G|0.616;A|0.384	0.384	strong		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35790503	G	A	35790503	2	1	22	1	0	0	0	0	0	0	0	1	9162	991	35	2		2	MAG	19	35790503	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70926	35790503	23338480	9783	14891										
MAG	4099	hgsc.bcm.edu	37	chr19	35793589	35793589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtatggccagagggccacCgccttcaacctgtctgtgga	12	13	2	1	rs1126770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:35793589C>T	ENST00000392213.3	+	7	1368	c.1209C>T	c.(1207-1209)acC>acT	p.T403T	MAG_ENST00000361922.4_Silent_p.T403T|MAG_ENST00000537831.2_Silent_p.T378T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	403	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGAGGGCCACCGCCTTCAACC	0.622													C|||	1183	0.236222	0.174	0.3271	5008	,	,		16814	0.1677		0.3191	False		,,,				2504	0.2413				p.T403T		Atlas-SNP	.											.	MAG	172	.	0			c.C1209T						PASS	.	C	,,	882,3524	342.3+/-307.1	78,726,1399	92	75	81		1134,1209,1209	-10.5	0.3	19	dbSNP_86	81	2794,5806	443.1+/-360.3	458,1878,1964	no	coding-synonymous,coding-synonymous,coding-synonymous	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	,,	536,2604,3363	TT,TC,CC		32.4884,20.0182,28.2639	,,	378/602,403/627,403/583	35793589	3676,9330	2203	4300	6503	SO:0001819	synonymous_variant	4099	exon7			GGCCACCGCCTTC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1209C>T	19.37:g.35793589C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_080600	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																			C|0.728;T|0.272	0.272	strong		0.622	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35793589	C	T	35793589	2	4	22	1	0	0	0	0	0	0	0	1	9162	639	23	1		1	MAG	19	35793589	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3086	35793589	23335394	9784	14892										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002371	36002394	+	In_Frame_Del	DEL	CCACTGCTGCCGCCACTGCTGCCG	CCACTGCTGCCGCCACTGCTGCCG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactgttgccactgctgccaCcactgctgccgccactgctg					rs112672248|rs142519211|rs11667007|rs12981076|rs146822312|rs148799704|rs56743379|rs371511253|rs117522133|rs59309505|rs58579970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CCACTGCTGCCGCCACTGCTGCCG	CCACTGCTGCCGCCACTGCTGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002371_36002394delCCACTGCTGCCGCCACTGCTGCCG	ENST00000339686.3	-	5	1013_1036	c.837_860delCGGCAGCAGTGGCGGCAGCAGTGG	c.(835-861)ggcggcagcagtggcggcagcagtggt>ggt	p.279_287GGSSGGSSG>G	DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_In_Frame_Del_p.279_287GGSSGGSSG>G|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.279_287GGSSGGSSG>G|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.279_287GGSSGGSSG>G|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.279_287GGSSGGSSG>G|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_In_Frame_Del_p.279_287GGSSGGSSG>G	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	279	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgctgccaccactgctgccgccactgctgccgccactgctgc	0.638																																					p.280_287del		Pindel	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.838_861del						PASS	.																																			SO:0001651	inframe_deletion	93099	exon5			.	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.837_860delCGGCAGCAGTGGCGGCAGCAGTGG	19.37:g.36002371_36002394delCCACTGCTGCCGCCACTGCTGCCG	ENSP00000342012:p.Gly279_Ser286del	Somatic	91	.	.		WXS	Illumina HiSeq	Phase_I	90	25	0.278	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	none		0.638	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		-	36002394	CCACTGCTGCCGCCACTGCTGCCG	-	36002371	7	5	22	1	0	1	0	1	0	0	0	0	4582	507	18	0	935	0	DMKN	19	36002371	In_Frame_Del	DEL	CCACTGCTGCCGCCACTGCTGCCG	TCGA-G8-6324-01A-11D-2210-10	208782	36002371	23126612	9785	14893	306	2								
DMKN	93099	hgsc.bcm.edu	37	chr19	36002381	36002381	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgctgccaccactgctgcCgccactgctgccgccactgc					rs56743379|rs12981076|rs59309505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002381C>T	ENST00000339686.3	-	5	1026	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.G284S|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G284S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G284S|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G284S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G284S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	284	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ccactgctgccgccactgctg	0.622													-|||	1296	0.258786	0.4531	0.2133	5008	,	,		10950	0.2679		0.0924	False		,,,				2504	0.1902				p.G284S		Atlas-SNP	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.G850A						PASS	.						25	20	22					19																	36002381		2193	4268	6461	SO:0001583	missense	93099	exon5			TGCTGCCGCCACT	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.850G>A	19.37:g.36002381C>T	ENSP00000342012:p.Gly284Ser	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	83	80	0.963855	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	678	0.31043956043956045	225	0.4573170731707317	90	0.24861878453038674	233	0.40734265734265734	130	0.17150395778364116	-	8.814	0.935828	0.18206	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	3.0	-3.4	0.04853	.	0.338457	0.21736	N	0.069899	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B;B	0.15141	0.0;0.001;0.001;0.001;0.012	B;B;B;B;B	0.08055	0.001;0.003;0.003;0.003;0.002	T	0.43925	-0.9361	9	0.11794	T	0.64	0.198	10.2806	0.43537	0.0:0.6239:0.0:0.3761	rs12981076;rs61179178	284;284;284;284;284	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	284	ENSP00000342012:G284S;ENSP00000394908:G284S;ENSP00000415277:G284S;ENSP00000414743:G284S;ENSP00000388404:G284S;ENSP00000409513:G284S	ENSP00000342012:G284S	G	-	1	0	DMKN	40694221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.399000	0.00484	-1.308000	0.02318	-0.361000	0.07541	GGC	C|0.689;T|0.311	0.311	strong		0.622	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002381	C	T	36002381	3	4	22	1	0	0	0	0	1	0	0	0	4582	652	23	1	945	1	DMKN	19	36002381	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10	36002381	23126602	9786	14894	306	2								
DMKN	93099	hgsc.bcm.edu	37	chr19	36002393	36002393	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgctgccgccactgctgcCgccactgctgctgccactgc					rs56743379|rs58579970|rs11667007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002393C>T	ENST00000339686.3	-	5	1014	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.G280S|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G280S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G280S|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G280S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G280S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	280	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ccactgctgccgccactgctg	0.637																																					p.G280S		Atlas-SNP	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.G838A						PASS	.						26	20	22					19																	36002393		2167	4203	6370	SO:0001583	missense	93099	exon5			TGCTGCCGCCACT	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.838G>A	19.37:g.36002393C>T	ENSP00000342012:p.Gly280Ser	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	673	0.30815018315018317	210	0.4268292682926829	75	0.20718232044198895	240	0.4195804195804196	148	0.19525065963060687	C	1.811	-0.474606	0.04414	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	3.22	-6.45	0.01914	.	1.501560	0.04069	N	0.307709	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P;P;P;P	0.45428	0.858;0.858;0.858;0.858;0.749	B;B;B;B;B	0.29942	0.061;0.109;0.109;0.109;0.061	T	0.37244	-0.9714	9	0.07482	T	0.82	5.4478	5.8619	0.18752	0.149:0.2427:0.0:0.6083	rs11667007	280;280;280;280;280	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	280	ENSP00000342012:G280S;ENSP00000394908:G280S;ENSP00000415277:G280S;ENSP00000414743:G280S;ENSP00000388404:G280S;ENSP00000409513:G280S	ENSP00000342012:G280S	G	-	1	0	DMKN	40694233	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	-0.639000	0.05446	-1.330000	0.02255	-0.291000	0.09656	GGC	C|0.691;T|0.309	0.309	strong		0.637	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002393	C	T	36002393	3	4	22	1	0	0	0	0	1	0	0	0	4582	652	23	1	957	1	DMKN	19	36002393	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	36002393	23126590	9787	14895	307	2								
DMKN	93099	hgsc.bcm.edu	37	chr19	36002394	36002394	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgccgccactgctgccGccactgctgctgccactgct					rs56743379|rs146822312		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002394G>A	ENST00000339686.3	-	5	1013	c.837C>T	c.(835-837)ggC>ggT	p.G279G	DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000418261.1_Silent_p.G279G|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000440396.1_Silent_p.G279G|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_Silent_p.G279G|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000424570.2_Silent_p.G279G|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Silent_p.G279G|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000414866.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	279	Gly-rich.			G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			cactgctgccgccactgctgc	0.637																																					p.G279G		Atlas-SNP	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.C837T						PASS	.						26	20	22					19																	36002394		2165	4212	6377	SO:0001819	synonymous_variant	93099	exon5			GCTGCCGCCACTG	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.837C>T	19.37:g.36002394G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	89	30	0.337079	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																			G|0.933;A|0.067	0.067	strong		0.637	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36002394	G	A	36002394	2	1	22	1	0	0	0	0	0	0	0	1	4582	1074	38	1		1	DMKN	19	36002394	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	36002394	23126589	9788	14896	307	2								
DMKN	93099	hgsc.bcm.edu	37	chr19	36002488	36002488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgcccgactgtgagccgCtgcctccctgaggggcagga	15	14	0	2	rs57760262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002488C>A	ENST00000339686.3	-	5	919	c.743G>T	c.(742-744)aGc>aTc	p.S248I	DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S248I|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S248I|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S248I|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000424570.2_Missense_Mutation_p.S248I|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S248I|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000414866.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	248	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTGAGCCGCTGCCTCCCTG	0.637													C|||	173	0.0345447	0.1241	0.0101	5008	,	,		18431	0.0		0.002	False		,,,				2504	0.0				p.S248I		Atlas-SNP	.											DMKN,NS,carcinoma,+1,1	DMKN	116	1	0			c.G743T						PASS	.	C	ILE/SER,ILE/SER,ILE/SER,ILE/SER,ILE/SER,,	365,4041	183.6+/-211.2	14,337,1852	34	31	32		743,743,743,743,743,,	2.7	0.7	19	dbSNP_129	32	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense,missense,missense,intron,intron	DMKN	NM_001126057.2,NM_001126058.2,NM_001190348.1,NM_001190349.1,NM_033317.4,NM_001126056.2,NM_001190347.1	142,142,142,142,142,,	14,341,6148	AA,AC,CC		0.0465,8.2842,2.8372	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	248/399,248/387,248/437,248/370,248/477,,	36002488	369,12637	2203	4300	6503	SO:0001583	missense	93099	exon5			GAGCCGCTGCCTC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.743G>T	19.37:g.36002488C>A	ENSP00000342012:p.Ser248Ile	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	62	0.028388278388278388	56	0.11382113821138211	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	13.09	2.132916	0.37630	0.082842	4.65E-4	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	3.78	2.73	0.32206	.	0.880319	0.09618	N	0.777875	T	0.02012	0.0063	L	0.52573	1.65	0.24630	N	0.993629	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.997	D;D;D;D;P	0.69479	0.964;0.964;0.964;0.964;0.899	T	0.01078	-1.1459	10	0.72032	D	0.01	-3.8258	7.2516	0.26152	0.0:0.8755:0.0:0.1245	rs57760262	248;248;248;248;248	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	I	248	ENSP00000342012:S248I;ENSP00000394908:S248I;ENSP00000415277:S248I;ENSP00000414743:S248I;ENSP00000388404:S248I;ENSP00000409513:S248I	ENSP00000342012:S248I	S	-	2	0	DMKN	40694328	0.006000	0.16342	0.659000	0.29680	0.091000	0.18340	0.717000	0.25851	0.948000	0.37687	0.561000	0.74099	AGC	C|0.967;A|0.033	0.033	strong		0.637	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36002488	C	A	36002488	3	1	22	1	0	0	0	0	1	0	0	0	4582	797	28	4	1052	4	DMKN	19	36002488	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94	36002488	23126495	9789	14897										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002710	36002710	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccagatggtgggggattCgtgcactgtcgagggaaagg	19	6	0	1	rs4806162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36002710C>A	ENST00000339686.3	-	4	866	c.690G>T	c.(688-690)acG>acT	p.T230T	DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Silent_p.T230T|DMKN_ENST00000451297.2_Silent_p.T230T|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000429837.1_Silent_p.T230T|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Silent_p.T230T|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000424570.2_Silent_p.T230T|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Silent_p.T230T|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_Silent_p.T230T	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	230	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGGGGATTCGTGCACTGTC	0.597													A|||	1641	0.327676	0.379	0.3343	5008	,	,		17037	0.4345		0.1441	False		,,,				2504	0.3323				p.T230T		Atlas-SNP	.											.	DMKN	116	.	0			c.G690T						PASS	.	A	,,,,,,	1576,2830	665.6+/-401.6	292,992,919	144	132	136		690,690,690,690,690,690,690	2.2	1	19	dbSNP_111	136	1232,7368	760.1+/-407.6	104,1024,3172	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMKN	NM_001126056.2,NM_001126057.2,NM_001126058.2,NM_001190347.1,NM_001190348.1,NM_001190349.1,NM_033317.4	,,,,,,	396,2016,4091	AA,AC,CC		14.3256,35.7694,21.59	,,,,,,	230/466,230/399,230/387,230/450,230/437,230/370,230/477	36002710	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	93099	exon4			GGGATTCGTGCAC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.690G>T	19.37:g.36002710C>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	246	120	0.487805	NM_001190347	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																			C|0.766;A|0.234	0.234	strong		0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36002710	C	A	36002710	2	1	22	1	0	0	0	0	0	0	0	1	4582	871	31	4		4	DMKN	19	36002710	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	222	36002710	23126273	9790	14898										
DMKN	93099	hgsc.bcm.edu	37	chr19	36004171	36004171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtcccttggccaagggcCtcactgactttagagccagc	11	14	1	2	rs12460932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36004171C>A	ENST00000339686.3	-	1	383	c.207G>T	c.(205-207)gaG>gaT	p.E69D	DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.E69D|DMKN_ENST00000451297.2_Missense_Mutation_p.E69D|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.E69D|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.E69D|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.E69D|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.E69D|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.E69D	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	69	Gly-rich.		E -> D (in dbSNP:rs12460932).			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCAAGGGCCTCACTGACTT	0.627													C|||	1585	0.316494	0.3994	0.3357	5008	,	,		17452	0.3542		0.1431	False		,,,				2504	0.3303				p.E69D		Atlas-SNP	.											.	DMKN	116	.	0			c.G207T						PASS	.	C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	1706,2700	516.7+/-369.2	344,1018,841	131	109	117		207,207,207,207,207,207,207	-5.7	0	19	dbSNP_120	117	1252,7348	250.3+/-277.2	106,1040,3154	yes	missense,missense,missense,missense,missense,missense,missense	DMKN	NM_001126056.2,NM_001126057.2,NM_001126058.2,NM_001190347.1,NM_001190348.1,NM_001190349.1,NM_033317.4	45,45,45,45,45,45,45	450,2058,3995	AA,AC,CC		14.5581,38.7199,22.7433	benign,benign,benign,benign,benign,benign,benign	69/466,69/399,69/387,69/450,69/437,69/370,69/477	36004171	2958,10048	2203	4300	6503	SO:0001583	missense	93099	exon1			AAGGGCCTCACTG	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.207G>T	19.37:g.36004171C>A	ENSP00000342012:p.Glu69Asp	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	98	47	0.479592	NM_001190347	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	592	0.27106227106227104	181	0.3678861788617886	98	0.27071823204419887	204	0.35664335664335667	109	0.1437994722955145	C	13.20	2.165566	0.38217	0.387199	0.145581	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.18016	2.75;2.51;2.51;2.27;2.27;2.26;2.26;2.24	2.87	-5.74	0.02391	.	1.443180	0.04827	N	0.438056	T	0.00012	0.0000	N	0.03154	-0.405	0.80722	P	0.0	B;D;D;B;B;B;B	0.56035	0.002;0.974;0.974;0.002;0.0;0.0;0.0	B;D;D;B;B;B;B	0.70487	0.0;0.969;0.969;0.0;0.0;0.0;0.0	T	0.17776	-1.0358	9	0.40728	T	0.16	0.0114	8.0196	0.30402	0.216:0.6689:0.1151:0.0	rs12460932;rs61157480;rs12460932	69;69;69;69;69;69;69	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	D	69	ENSP00000342012:E69D;ENSP00000405503:E69D;ENSP00000391036:E69D;ENSP00000394908:E69D;ENSP00000415277:E69D;ENSP00000414743:E69D;ENSP00000388404:E69D;ENSP00000409513:E69D	ENSP00000342012:E69D	E	-	3	2	DMKN	40696011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.678000	0.05209	-0.832000	0.04251	-0.555000	0.04198	GAG	C|0.751;A|0.249	0.249	strong		0.627	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36004171	C	A	36004171	3	1	22	1	0	0	0	0	1	0	0	0	4582	680	24	4	1604	4	DMKN	19	36004171	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1461	36004171	23124812	9791	14899										
SBSN	374897	hgsc.bcm.edu	37	chr19	36018435	36018435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcatttccggcctgccccGcagcatggtgggccccctgg	12	18	1	0	rs147913080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36018435G>A	ENST00000452271.2	-	1	777	c.749C>T	c.(748-750)gCg>gTg	p.A250V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	250	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCTGCCCCGCAGCATGGTG	0.627													G|||	143	0.0285543	0.1044	0.0072	5008	,	,		20537	0.0		0.0	False		,,,				2504	0.0				p.A250V		Atlas-SNP	.											.	SBSN	58	.	0			c.C749T						PASS	.	G	VAL/ALA,,	148,1236		8,132,552	29	36	34		749,,	-5.1	0	19	dbSNP_134	34	0,3182		0,0,1591	no	missense,intron,intron	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	64,,	8,132,2143	AA,AG,GG		0.0,10.6936,3.2413	benign,,	250/591,,	36018435	148,4418	692	1591	2283	SO:0001583	missense	374897	exon1			TGCCCCGCAGCAT	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.749C>T	19.37:g.36018435G>A	ENSP00000430242:p.Ala250Val	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001166034	A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	CCDS54253.1	50	0.022893772893772892	40	0.08130081300813008	3	0.008287292817679558	7	0.012237762237762238	0	0.0	G	10.51	1.369069	0.24771	0.106936	0.0	ENSG00000189001	ENST00000452271	T	0.48201	0.82	4.63	-5.14	0.02875	.	.	.	.	.	T	0.00580	0.0019	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.16424	-1.0403	9	0.17369	T	0.5	.	7.6648	0.28423	0.3905:0.1283:0.4812:0.0	.	250	E9PBV3	.	V	250	ENSP00000430242:A250V	ENSP00000430242:A250V	A	-	2	0	SBSN	40710275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.794000	0.01753	-0.578000	0.05959	-1.069000	0.02264	GCG	G|0.977;A|0.023	0.023	strong		0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		A	36018435	G	A	36018435	3	1	22	1	0	0	0	0	1	0	0	0	13864	1087	38	1	1039	1	SBSN	19	36018435	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14264	36018435	23110548	9792	14900										
RBM42	79171	hgsc.bcm.edu	37	chr19	36124822	36124822	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccgttggaggtcgtccgCggcctcctgcccccgctgcg	13	19	0	0	rs147020112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36124822C>A	ENST00000262633.4	+	7	1023	c.918C>A	c.(916-918)cgC>cgA	p.R306R	RBM42_ENST00000589559.1_Silent_p.R277R|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000588161.1_Silent_p.R276R|RBM42_ENST00000589871.1_Silent_p.R284R|RBM42_ENST00000360475.4_Silent_p.R277R|RBM42_ENST00000592202.1_Silent_p.R252R	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	306	Necessary for interaction with HNRNPK. {ECO:0000250}.|Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGTCGTCCGCGGCCTCCTGC	0.731													C|||	79	0.0157748	0.0598	0.0	5008	,	,		14671	0.0		0.0	False		,,,				2504	0.0				p.R306R		Atlas-SNP	.											.	RBM42	40	.	0			c.C918A						PASS	.	C		157,4183		3,151,2016	7	9	8		918	-10.2	0.1	19	dbSNP_134	8	2,8482		0,2,4240	no	coding-synonymous	RBM42	NM_024321.3		3,153,6256	AA,AC,CC		0.0236,3.6175,1.2399		306/481	36124822	159,12665	2170	4242	6412	SO:0001819	synonymous_variant	79171	exon7			CGTCCGCGGCCTC	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.918C>A	19.37:g.36124822C>A		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	40	18	0.45	NM_024321	O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	CCDS12468.1																																																																																			C|0.990;A|0.010	0.010	strong		0.731	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		A	36124822	C	A	36124822	2	1	22	1	0	0	0	0	0	0	0	1	13136	755	27	4		4	RBM42	19	36124822	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106387	36124822	23004161	9793	14901										
COX6B1	1340	hgsc.bcm.edu	37	chr19	36142187	36142187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaatcaagaactacaagacCgccccttttgacagccgctt	6	13	1	3	rs7991	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36142187C>T	ENST00000592141.1	+	2	307	c.42C>T	c.(40-42)acC>acT	p.T14T	COX6B1_ENST00000392201.1_Silent_p.T14T|COX6B1_ENST00000246554.3_Silent_p.T14T			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	14					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.T31T(1)|p.T14T(1)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTACAAGACCGCCCCTTTTG	0.572													T|||	922	0.184105	0.2216	0.1441	5008	,	,		15726	0.2857		0.0755	False		,,,				2504	0.1687				p.T14T		Atlas-SNP	.											COX6B1_ENST00000392201,NS,carcinoma,0,2	COX6B1	20	2	2	Substitution - coding silent(2)	stomach(2)	c.C42T						PASS	.	T		903,3503	740.6+/-411.2	78,747,1378	99	83	88		42	-1.3	1	19	dbSNP_52	88	664,7936	789.4+/-407.6	27,610,3663	no	coding-synonymous	COX6B1	NM_001863.4		105,1357,5041	TT,TC,CC		7.7209,20.4948,12.0483		14/87	36142187	1567,11439	2203	4300	6503	SO:0001819	synonymous_variant	1340	exon2			CAAGACCGCCCCT	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2280	protein-coding gene	gene with protein product		124089	"cytochrome c oxidase subunit Vib", "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.42C>T	19.37:g.36142187C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_001863	B2R5C9|Q6IBL4	Silent	SNP	ENST00000592141.1	37	CCDS12469.1																																																																																			C|0.859;T|0.141	0.141	strong		0.572	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		T	36142187	C	T	36142187	2	4	22	1	0	0	0	0	0	0	0	1	3776	639	23	1		1	COX6B1	19	36142187	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17365	36142187	22986796	9794	14902										
UPK1A	11045	hgsc.bcm.edu	37	chr19	36157740	36157740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctgcggcagcagcggaggCcgagaagggatctccagttg	17	10	2	1	rs61741212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36157740C>T	ENST00000222275.2	+	1	26	c.26C>T	c.(25-27)gCc>gTc	p.A9V	UPK1A_ENST00000379013.2_Missense_Mutation_p.A9V|RN7SL765P_ENST00000580260.1_RNA|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	9					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCGGAGGCCGAGAAGGGA	0.612													C|||	764	0.152556	0.2753	0.0562	5008	,	,		17149	0.0278		0.1123	False		,,,				2504	0.2249				p.A9V		Atlas-SNP	.											.	UPK1A	23	.	0			c.C26T						PASS	.	C	VAL/ALA	1011,3395	375.1+/-321.5	123,765,1315	147	136	139		26	-3.1	0	19	dbSNP_129	139	949,7651	209.6+/-250.7	53,843,3404	yes	missense	UPK1A	NM_007000.2	64	176,1608,4719	TT,TC,CC		11.0349,22.946,15.07	benign	9/259	36157740	1960,11046	2203	4300	6503	SO:0001583	missense	11045	exon1			CGGAGGCCGAGAA	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.26C>T	19.37:g.36157740C>T	ENSP00000222275:p.Ala9Val	Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	204	102	0.5	NM_007000	Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	CCDS12470.1	259	0.11858974358974358	130	0.26422764227642276	27	0.07458563535911603	14	0.024475524475524476	88	0.11609498680738786	C	13.21	2.167807	0.38315	0.22946	0.110349	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.06849	3.43;3.25	4.23	-3.14	0.05250	.	1.673270	0.03514	N	0.219987	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.46965	-0.9153	9	0.30854	T	0.27	.	1.2775	0.02033	0.1348:0.2769:0.1798:0.4085	rs61741212	9;9	O00322-2;O00322	.;UPK1A_HUMAN	V	9	ENSP00000222275:A9V;ENSP00000368298:A9V	ENSP00000222275:A9V	A	+	2	0	UPK1A	40849580	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	-1.225000	0.02956	-0.417000	0.07461	0.655000	0.94253	GCC	C|0.856;T|0.144	0.144	strong		0.612	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			T	36157740	C	T	36157740	3	4	22	1	0	0	0	0	1	0	0	0	17004	739	26	2	28	2	UPK1A	19	36157740	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15553	36157740	22971243	9795	14903										
UPK1A	11045	hgsc.bcm.edu	37	chr19	36168914	36168914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccatgtatttctacaccaTgctctgagggacaggagggg	13	9	2	1	rs2285421	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36168914T>C	ENST00000222275.2	+	7	770	c.770T>C	c.(769-771)aTg>aCg	p.M257T	UPK1A_ENST00000379013.2_3'UTR	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	257			M -> T (in dbSNP:rs2285421). {ECO:0000269|PubMed:15489334}.		epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCTACACCATGCTCTGAGGG	0.647													C|||	3299	0.658746	0.8359	0.5029	5008	,	,		14729	0.6161		0.5	False		,,,				2504	0.7372				p.M257T		Atlas-SNP	.											.	UPK1A	23	.	0			c.T770C						PASS	.	C	THR/MET	3461,943	337.3+/-304.8	1355,751,96	47	49	48		770	0.5	0.1	19	dbSNP_100	48	4165,4435	555.1+/-386.6	982,2201,1117	yes	missense	UPK1A	NM_007000.2	81	2337,2952,1213	CC,CT,TT		48.4302,21.4124,41.3565	benign	257/259	36168914	7626,5378	2202	4300	6502	SO:0001583	missense	11045	exon7			ACACCATGCTCTG	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.770T>C	19.37:g.36168914T>C	ENSP00000222275:p.Met257Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_007000	Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	CCDS12470.1	1339	0.6130952380952381	401	0.8150406504065041	188	0.5193370165745856	361	0.6311188811188811	389	0.5131926121372031	C	7.118	0.577334	0.13686	0.785876	0.484302	ENSG00000105668	ENST00000222275	T	0.05025	3.51	5.22	0.485	0.16830	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.11470	-1.0586	8	0.09843	T	0.71	.	4.7632	0.13118	0.1406:0.4845:0.0:0.3749	rs2285421;rs17652127;rs52810906;rs58866560;rs2285421	257	O00322	UPK1A_HUMAN	T	257	ENSP00000222275:M257T	ENSP00000222275:M257T	M	+	2	0	UPK1A	40860754	0.015000	0.18098	0.101000	0.21167	0.255000	0.26057	-0.031000	0.12287	0.085000	0.17107	-0.929000	0.02709	ATG	T|0.391;C|0.609	0.609	strong		0.647	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			C	36168914	T	C	36168914	3	2	22	1	0	0	0	0	1	0	0	0	17004	1464	51	2	796	2	UPK1A	19	36168914	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11174	36168914	22960069	9796	14904										
MLL4	9757	hgsc.bcm.edu	37	chr19	36224705	36224705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgctgccacttccggaagAtggtcctccccaggtccccg	10	16	0	1	rs231591	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36224705A>G	ENST00000222270.7	+	30	7091	c.7091A>G	c.(7090-7092)gAt>gGt	p.D2364G	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D2364G	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2364			D -> G (in dbSNP:rs231591).		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)										CTTCCGGAAGATGGTCCTCCC	0.637													G|||	3107	0.620407	0.848	0.428	5008	,	,		16478	0.505		0.4811	False		,,,				2504	0.7117				p.D2364G		Atlas-SNP	.											.	MLL4	229	.	0			c.A7091G						PASS	.	G	GLY/ASP	3099,773		1233,633,70	60	66	64		7091	1.7	0.3	19	dbSNP_79	64	3932,4336		924,2084,1126	yes	missense	MLL4	NM_014727.1	94	2157,2717,1196	GG,GA,AA		47.5568,19.9638,42.084	benign	2364/2716	36224705	7031,5109	1936	4134	6070	SO:0001583	missense	8085	exon30			CGGAAGATGGTCC	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.7091A>G	19.37:g.36224705A>G	ENSP00000222270:p.Asp2364Gly	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	158	72	0.455696	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	1231	0.5636446886446886	402	0.8170731707317073	164	0.4530386740331492	298	0.5209790209790209	367	0.4841688654353562	G	0.154	-1.088329	0.01873	0.800362	0.475568	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82711	-1.64;-1.64	5.24	1.66	0.24008	.	0.496643	0.17023	N	0.190057	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	9	0.09338	T	0.73	.	3.7383	0.08520	0.0871:0.3105:0.4424:0.16	rs231591;rs661098;rs58885664;rs231591	2364	Q9UMN6	MLL4_HUMAN	G	2364	ENSP00000222270:D2364G;ENSP00000398837:D2364G	ENSP00000222270:D2364G	D	+	2	0	AD000671.1	40916545	0.826000	0.29277	0.293000	0.24932	0.148000	0.21650	0.097000	0.15168	0.219000	0.20840	-0.215000	0.12644	GAT	A|0.441;G|0.559	0.559	strong		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		G	36224705	A	G	36224705	3	3	22	1	0	0	0	0	1	0	0	0	9623	333	12	2	7209	2	MLL4	19	36224705	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55791	36224705	22904278	9797	14905										
ARHGAP33	115703	hgsc.bcm.edu	37	chr19	36278470	36278470	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccctgcccaggtcagtgcCcagctcagggcaggtggcgg	17	14	2	0	rs231235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36278470C>G	ENST00000007510.4	+	21	3147	c.3003C>G	c.(3001-3003)gcC>gcG	p.A1001A	ARHGAP33_ENST00000378944.5_Intron|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Silent_p.A840A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1001					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGGTCAGTGCCCAGCTCAGGG	0.662													C|||	2678	0.534744	0.6551	0.5879	5008	,	,		13735	0.627		0.3688	False		,,,				2504	0.41				p.A840A		Atlas-SNP	.											.	ARHGAP33	102	.	0			c.C2520G						PASS	.	C	,	2644,1732		812,1020,356	16	20	19		,2520	2.6	1	19	dbSNP_79	19	3095,5441		619,1857,1792	no	intron,coding-synonymous	ARHGAP33	NM_001172630.1,NM_052948.3	,	1431,2877,2148	GG,GC,CC		36.2582,39.5795,44.447	,	,840/1127	36278470	5739,7173	2188	4268	6456	SO:0001819	synonymous_variant	115703	exon21			CAGTGCCCAGCTC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3003C>G	19.37:g.36278470C>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37																																																																																				C|0.531;G|0.469	0.469	strong		0.662	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		G	36278470	C	G	36278470	2	3	22	1	0	0	0	0	0	0	0	1	882	610	22	4		4	ARHGAP33	19	36278470	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	53765	36278470	22850513	9798	14906										
PRODH2	58510	hgsc.bcm.edu	37	chr19	36298022	36298022	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaggcaggagacctggaggTtctagggggcagcaggggaa	20	6	1	2	rs73594420	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36298022T>C	ENST00000301175.3	-	6	844	c.827A>G	c.(826-828)aAc>aGc	p.N276S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	276					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCTGGAGGTTCTAGGGGGC	0.532													C|||	537	0.107228	0.3517	0.0346	5008	,	,		16769	0.0387		0.008	False		,,,				2504	0.001				p.N276S		Atlas-SNP	.											PRODH2,NS,carcinoma,0,1	PRODH2	68	1	0			c.A827G						scavenged	.	C	SER/ASN	1113,3119		132,849,1135	24	28	27		827	-5	0	19	dbSNP_130	27	27,8263		0,27,4118	yes	missense-near-splice	PRODH2	NM_021232.1	46	132,876,5253	CC,CT,TT		0.3257,26.2996,9.104	benign	276/537	36298022	1140,11382	2116	4145	6261	SO:0001630	splice_region_variant	58510	exon6			TGGAGGTTCTAGG	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.826-1A>G	19.37:g.36298022T>C		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_021232		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	203	0.09294871794871795	173	0.3516260162601626	13	0.03591160220994475	13	0.022727272727272728	4	0.005277044854881266	C	0.021	-1.423479	0.01126	0.262996	0.003257	ENSG00000250799	ENST00000301175	T	0.31769	1.48	5.11	-5.04	0.02964	Proline dehydrogenase (1);	.	.	.	.	T	0.00012	0.0000	N	0.11313	0.125	0.48511	P	3.330000000000277E-4	B	0.10296	0.003	B	0.10450	0.005	T	0.44205	-0.9343	8	0.09590	T	0.72	.	15.4242	0.75038	0.0:0.5657:0.0:0.4343	.	276	Q9UF12	PROD2_HUMAN	S	276	ENSP00000301175:N276S	ENSP00000301175:N276S	N	-	2	0	PRODH2	40989862	0.350000	0.24878	0.006000	0.13384	0.128000	0.20619	-0.419000	0.07071	-1.895000	0.01104	-2.040000	0.00418	AAC	T|0.889;C|0.111	0.111	strong		0.532	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	Missense_Mutation	C	36298022	T	C	36298022	5	2	22	1	0	0	0	0	0	0	1	0	12549	1739	60	2	807	2	PRODH2	19	36298022	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19552	36298022	22830961	9799	14907										
PRODH2	58510	hgsc.bcm.edu	37	chr19	36302897	36302897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagcttcagccagcctctcGgggctcagctccaaggaggc	12	14	3	0	rs145376615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36302897G>A	ENST00000301175.3	-	5	809	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	264					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGCCTCTCGGGGCTCAGCT	0.637													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		18798	0.0		0.0	False		,,,				2504	0.0				p.P264P		Atlas-SNP	.											.	PRODH2	68	.	0			c.C792T						PASS	.	G		87,4319	72.5+/-110.5	0,87,2116	51	47	48		792	-9.5	0.2	19	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	PRODH2	NM_021232.1		0,87,6416	AA,AG,GG		0.0,1.9746,0.6689		264/537	36302897	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	58510	exon5			CCTCTCGGGGCTC	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.792C>T	19.37:g.36302897G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_021232		Silent	SNP	ENST00000301175.3	37	CCDS12478.1																																																																																			A|0.006;G|0.994;T|0.000	0.006	strong		0.637	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36302897	G	A	36302897	2	1	22	1	0	0	0	0	0	0	0	1	12549	1103	39	1		1	PRODH2	19	36302897	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4875	36302897	22826086	9800	14908										
PRODH2	58510	hgsc.bcm.edu	37	chr19	36304143	36304143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtaatcccaacactttggGaggccaagaccgaggagttt	11	9	0	1	rs138605929	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36304143G>A	ENST00000301175.3	-	1	58	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	14					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			aacactttgggaggccaagac	0.423													G|||	30	0.00599042	0.0212	0.0029	5008	,	,		21126	0.0		0.0	False		,,,				2504	0.0				p.S14F		Atlas-SNP	.											.	PRODH2	68	.	0			c.C41T						PASS	.	G	PHE/SER	79,4327	54.9+/-90.9	0,79,2124	60	54	56		41	0.4	0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense	PRODH2	NM_021232.1	155	0,79,6424	AA,AG,GG		0.0,1.793,0.6074	possibly-damaging	14/537	36304143	79,12927	2203	4300	6503	SO:0001583	missense	58510	exon1			CTTTGGGAGGCCA	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.41C>T	19.37:g.36304143G>A	ENSP00000301175:p.Ser14Phe	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	43	28	0.651163	NM_021232		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	9	0.004120879120879121	7	0.014227642276422764	2	0.0055248618784530384	0	0.0	0	0.0	G	6.284	0.420467	0.11928	0.01793	0.0	ENSG00000250799	ENST00000301175	T	0.06849	3.25	0.36	0.36	0.16097	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	P	0.45558	0.485	T	0.41034	-0.9531	8	0.56958	D	0.05	.	.	.	.	.	14	Q9UF12	PROD2_HUMAN	F	14	ENSP00000301175:S14F	ENSP00000301175:S14F	S	-	2	0	PRODH2	40995983	0.037000	0.19845	0.031000	0.17742	0.030000	0.12068	0.477000	0.22196	0.469000	0.27268	0.472000	0.43445	TCC	G|0.992;A|0.008	0.008	strong		0.423	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36304143	G	A	36304143	3	1	22	1	0	0	0	0	1	0	0	0	12549	1174	41	2	1613	2	PRODH2	19	36304143	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1246	36304143	22824840	9801	14909										
NPHS1	4868	hgsc.bcm.edu	37	chr19	36334419	36334419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggatgggattggcatcGacagtgcagactatgtccac	15	8	0	1	rs437168	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36334419G>A	ENST00000378910.5	-	17	2288	c.2289C>T	c.(2287-2289)gtC>gtT	p.V763V	NPHS1_ENST00000353632.6_Silent_p.V763V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	763	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATTGGCATCGACAGTGCAGA	0.587													A|||	970	0.19369	0.5113	0.0692	5008	,	,		19940	0.1488		0.0268	False		,,,				2504	0.0706				p.V763V		Atlas-SNP	.											.	NPHS1	165	.	0			c.C2289T	GRCh37	CI024197	NPHS1	I	rs437168	PASS	.	A		1967,2439	619.5+/-393.4	433,1101,669	141	125	130		2289	-4.8	0	19	dbSNP_80	130	324,8276	805.1+/-407.3	2,320,3978	no	coding-synonymous	NPHS1	NM_004646.3		435,1421,4647	AA,AG,GG		3.7674,44.6437,17.6149		763/1242	36334419	2291,10715	2203	4300	6503	SO:0001819	synonymous_variant	4868	exon17			GGCATCGACAGTG		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2289C>T	19.37:g.36334419G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	142	67	0.471831	NM_004646	A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	CCDS32996.1																																																																																			G|0.821;A|0.179	0.179	strong		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36334419	G	A	36334419	2	1	22	1	0	0	0	0	0	0	0	1	10582	1045	37	1		1	NPHS1	19	36334419	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30276	36334419	22794564	9802	14910										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36349721	36349721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccctacccctgaattgctGtggttccgagatggggtcct	12	13	0	2	rs57079408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36349721G>A	ENST00000360202.5	+	4	675	c.477G>A	c.(475-477)ctG>ctA	p.L159L	KIRREL2_ENST00000592409.1_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000262625.7_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAATTGCTGTGGTTCCGAG	0.592													G|||	35	0.00698882	0.0242	0.0043	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.0				p.L159L		Atlas-SNP	.											.	KIRREL2	170	.	0			c.G477A						PASS	.	G	,,	87,4319	72.0+/-110.0	0,87,2116	107	103	104		477,327,477	2.1	1	19	dbSNP_129	104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	,,	0,87,6416	AA,AG,GG		0.0,1.9746,0.6689	,,	159/634,109/584,159/709	36349721	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	84063	exon4			ATTGCTGTGGTTC	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.477G>A	19.37:g.36349721G>A		Somatic	246	1	0.00406504		WXS	Illumina HiSeq	Phase_I	215	104	0.483721	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																			G|0.994;A|0.006	0.006	strong		0.592	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36349721	G	A	36349721	2	1	22	1	0	0	0	0	0	0	0	1	8325	1364	48	2		2	KIRREL2	19	36349721	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15302	36349721	22779262	9803	14911										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36349736	36349736	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctgtggttccgagatggGgtcctgttggatggagccac	16	8	0	1	rs34006827	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36349736G>C	ENST00000360202.5	+	4	690	c.492G>C	c.(490-492)ggG>ggC	p.G164G	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.G164G|KIRREL2_ENST00000347900.6_Silent_p.G114G|KIRREL2_ENST00000262625.7_Silent_p.G164G	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	164	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCGAGATGGGGTCCTGTTGG	0.577													G|||	187	0.0373403	0.0703	0.0259	5008	,	,		18578	0.0119		0.0258	False		,,,				2504	0.0389				p.G164G		Atlas-SNP	.											.	KIRREL2	170	.	0			c.G492C						PASS	.	G	,,	274,4132	153.3+/-186.9	12,250,1941	107	103	104		492,342,492	2.1	1	19	dbSNP_126	104	288,8312	106.8+/-167.6	2,284,4014	no	coding-synonymous,coding-synonymous,coding-synonymous	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	,,	14,534,5955	CC,CG,GG		3.3488,6.2188,4.3211	,,	164/634,114/584,164/709	36349736	562,12444	2203	4300	6503	SO:0001819	synonymous_variant	84063	exon4			AGATGGGGTCCTG	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.492G>C	19.37:g.36349736G>C		Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	209	100	0.478469	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																			G|0.963;C|0.037	0.037	strong		0.577	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		C	36349736	G	C	36349736	2	2	22	1	0	0	0	0	0	0	0	1	8325	1219	43	4		4	KIRREL2	19	36349736	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15	36349736	22779247	9804	14912										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36349752	36349752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggggtcctgttggatggaGccaccttccatcaggtcagg	14	10	2	0	rs404299	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36349752G>A	ENST00000360202.5	+	4	706	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A170T|KIRREL2_ENST00000347900.6_Missense_Mutation_p.A120T|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A170T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	170	Ig-like C2-type 2.		A -> T (in dbSNP:rs404299).		cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTGGATGGAGCCACCTTCCA	0.562													A|||	765	0.152756	0.4342	0.062	5008	,	,		18561	0.0744		0.0258	False		,,,				2504	0.0481				p.A170T		Atlas-SNP	.											.	KIRREL2	170	.	0			c.G508A						PASS	.	A	THR/ALA,THR/ALA,THR/ALA	1646,2760	658.7+/-400.4	309,1028,866	104	100	102		508,358,508	3.4	1	19	dbSNP_80	102	309,8291	805.8+/-407.3	2,305,3993	yes	missense,missense,missense	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	58,58,58	311,1333,4859	AA,AG,GG		3.593,37.3581,15.0315	benign,benign,benign	170/634,120/584,170/709	36349752	1955,11051	2203	4300	6503	SO:0001583	missense	84063	exon4			GATGGAGCCACCT	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.508G>A	19.37:g.36349752G>A	ENSP00000353331:p.Ala170Thr	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	204	203	0.995098	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	263	0.12042124542124542	173	0.3516260162601626	26	0.0718232044198895	44	0.07692307692307693	20	0.026385224274406333	A	15.04	2.716294	0.48622	0.373581	0.03593	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.77098	-1.07;-1.07;-1.07	5.69	3.36	0.38483	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.794047	0.10947	N	0.616505	T	0.00012	0.0000	N	0.17474	0.49	0.52501	P	4.300000000001525E-5	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.003;0.001;0.003;0.001	T	0.20806	-1.0264	9	0.25751	T	0.34	-3.2746	6.4145	0.21710	0.4597:0.0:0.5403:0.0	rs404299;rs52823047;rs57040740;rs404299	170;170;170;120;170	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	T	170;120;170;170	ENSP00000262625:A170T;ENSP00000345067:A120T;ENSP00000353331:A170T	ENSP00000262625:A170T	A	+	1	0	KIRREL2	41041592	0.998000	0.40836	0.998000	0.56505	0.963000	0.63663	2.662000	0.46766	0.166000	0.19597	-0.260000	0.10688	GCC	G|0.863;A|0.137	0.137	strong		0.562	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36349752	G	A	36349752	3	1	22	1	0	0	0	0	1	0	0	0	8325	971	34	2	522	2	KIRREL2	19	36349752	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16	36349752	22779231	9805	14913										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36350474	36350474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagccacctttgtctgccGggcccggagccaggccctgc	14	16	1	0	rs34494265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36350474G>A	ENST00000360202.5	+	5	812	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R205Q|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R155Q|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R205Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	205	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.R205L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTGTCTGCCGGGCCCGGAGC	0.627													G|||	91	0.0181709	0.0673	0.0029	5008	,	,		17806	0.0		0.0	False		,,,				2504	0.0				p.R205Q		Atlas-SNP	.											.	KIRREL2	170	.	2	Substitution - Missense(2)	lung(2)	c.G614A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG	235,4171	139.2+/-174.8	4,227,1972	64	63	63		614,464,614	3.7	1	19	dbSNP_126	63	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	43,43,43	4,228,6271	AA,AG,GG		0.0116,5.3336,1.8145	possibly-damaging,possibly-damaging,possibly-damaging	205/634,155/584,205/709	36350474	236,12770	2203	4300	6503	SO:0001583	missense	84063	exon5			TCTGCCGGGCCCG	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.614G>A	19.37:g.36350474G>A	ENSP00000353331:p.Arg205Gln	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	68	38	0.558824	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	G	13.26	2.183768	0.38609	0.053336	1.16E-4	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202	T;T;T	0.74632	-0.86;-0.86;-0.86	4.72	3.68	0.42216	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203139	0.24398	N	0.038876	T	0.19366	0.0465	L	0.47078	1.49	0.25543	N	0.987161	B;P;P;P	0.38863	0.438;0.65;0.597;0.597	B;B;B;B	0.30716	0.119;0.119;0.072;0.072	T	0.22208	-1.0223	10	0.20519	T	0.43	-18.1018	8.1639	0.31215	0.106:0.0:0.894:0.0	rs34494265;rs34494265	205;205;155;205	F1T0I2;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;KIRR2_HUMAN;.;.	Q	205;155;205	ENSP00000262625:R205Q;ENSP00000345067:R155Q;ENSP00000353331:R205Q	ENSP00000262625:R205Q	R	+	2	0	KIRREL2	41042314	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	3.165000	0.50778	2.623000	0.88846	0.549000	0.68633	CGG	G|0.982;A|0.018	0.018	strong		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36350474	G	A	36350474	3	1	22	1	0	0	0	0	1	0	0	0	8325	1116	39	1	632	1	KIRREL2	19	36350474	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	722	36350474	22778509	9806	14914										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36351545	36351545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgccgtgggtagcgccaacCgcagtactgcgctggatgtg	15	12	0	0	rs73928337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36351545C>A	ENST00000360202.5	+	7	1102	c.904C>A	c.(904-906)Cgc>Agc	p.R302S	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R302S|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R252S|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R302S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	302	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGCGCCAACCGCAGTACTGC	0.677													C|||	35	0.00698882	0.0242	0.0043	5008	,	,		16057	0.0		0.0	False		,,,				2504	0.0				p.R302S		Atlas-SNP	.											KIRREL2_ENST00000262625,NS,carcinoma,-1,2	KIRREL2	170	2	0			c.C904A						PASS	.	C	SER/ARG,SER/ARG,SER/ARG	87,4319	72.0+/-110.0	0,87,2116	63	69	67		904,754,904	4	1	19	dbSNP_130	67	0,8600		0,0,4300	yes	missense,missense,missense	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	110,110,110	0,87,6416	AA,AC,CC		0.0,1.9746,0.6689	probably-damaging,probably-damaging,probably-damaging	302/634,252/584,302/709	36351545	87,12919	2203	4300	6503	SO:0001583	missense	84063	exon7			GCCAACCGCAGTA	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.904C>A	19.37:g.36351545C>A	ENSP00000353331:p.Arg302Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	109	50	0.458716	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	12	0.005494505494505495	8	0.016260162601626018	4	0.011049723756906077	0	0.0	0	0.0	c	21.8	4.203992	0.79127	0.019746	0.0	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14766	2.48;2.48;2.48	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000769	T	0.10766	0.0263	N	0.22421	0.69	0.37484	D	0.916104	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.998	D;D;D;D;D	0.85130	0.993;0.988;0.997;0.994;0.994	T	0.04191	-1.0970	10	0.35671	T	0.21	-18.2581	11.8642	0.52484	0.0:1.0:0.0:0.0	.	302;282;302;252;302	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	S	302;252;302;282	ENSP00000262625:R302S;ENSP00000345067:R252S;ENSP00000353331:R302S	ENSP00000262625:R302S	R	+	1	0	KIRREL2	41043385	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.485000	0.45250	2.257000	0.74773	0.444000	0.29173	CGC	C|0.994;A|0.006	0.006	strong		0.677	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36351545	C	A	36351545	3	1	22	1	0	0	0	0	1	0	0	0	8325	652	23	4	930	4	KIRREL2	19	36351545	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1071	36351545	22777438	9807	14915										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36351906	36351906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcgggaacccgcttccaCgggtaacctggacccgccgc	14	17	0	0	rs73928338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36351906C>A	ENST00000360202.5	+	8	1222	c.1024C>A	c.(1024-1026)Cgg>Agg	p.R342R	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.R342R|KIRREL2_ENST00000347900.6_Silent_p.R292R|KIRREL2_ENST00000262625.7_Silent_p.R342R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	342	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCTTCCACGGGTAACCTG	0.662													C|||	35	0.00698882	0.0242	0.0043	5008	,	,		13850	0.0		0.0	False		,,,				2504	0.0				p.R342R		Atlas-SNP	.											.	KIRREL2	170	.	0			c.C1024A						PASS	.	C	,,	76,4284		0,76,2104	11	13	12		1024,874,1024	4.5	1	19	dbSNP_130	12	1,8531		0,1,4265	no	coding-synonymous,coding-synonymous,coding-synonymous	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	,,	0,77,6369	AA,AC,CC		0.0117,1.7431,0.5973	,,	342/634,292/584,342/709	36351906	77,12815	2180	4266	6446	SO:0001819	synonymous_variant	84063	exon8			CTTCCACGGGTAA	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1024C>A	19.37:g.36351906C>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																			C|0.994;A|0.006	0.006	strong		0.662	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36351906	C	A	36351906	2	1	22	1	0	0	0	0	0	0	0	1	8325	527	19	4		4	KIRREL2	19	36351906	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	361	36351906	22777077	9808	14916										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36353880	36353880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcgaatccctggcagcaGcgacggctccagttcacgag	13	13	1	0	rs35775934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36353880G>A	ENST00000360202.5	+	13	1865	c.1667G>A	c.(1666-1668)aGc>aAc	p.S556N	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S521N|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S506N|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S556N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	556			S -> N (in dbSNP:rs35775934).		cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGGCAGCAGCGACGGCTCC	0.607													G|||	165	0.0329473	0.121	0.0072	5008	,	,		16611	0.0		0.0	False		,,,				2504	0.0				p.S556N		Atlas-SNP	.											KIRREL2_ENST00000262625,NS,carcinoma,-1,2	KIRREL2	170	2	0			c.G1667A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER	503,3901		19,465,1718	38	36	37		1667,1517,1667	3.9	0.9	19	dbSNP_126	37	4,8592		0,4,4294	yes	missense,missense,missense	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	46,46,46	19,469,6012	AA,AG,GG		0.0465,11.4214,3.9	benign,benign,benign	556/634,506/584,556/709	36353880	507,12493	2202	4298	6500	SO:0001583	missense	84063	exon13			GCAGCAGCGACGG	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1667G>A	19.37:g.36353880G>A	ENSP00000353331:p.Ser556Asn	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	45	0.020604395604395604	39	0.07926829268292683	6	0.016574585635359115	0	0.0	0	0.0	G	13.69	2.311961	0.40895	0.114214	4.65E-4	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.65178	-0.13;0.1;-0.14	4.98	3.94	0.45596	.	0.000000	0.45126	D	0.000386	T	0.03651	0.0104	L	0.56769	1.78	0.25267	N	0.989546	D;D;D;D;D	0.71674	0.993;0.998;0.993;0.996;0.996	D;D;D;D;D	0.80764	0.968;0.994;0.968;0.986;0.986	T	0.05451	-1.0884	10	0.21540	T	0.41	-13.9497	8.3131	0.32084	0.1065:0.0:0.8935:0.0	rs35775934	556;536;556;506;556	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	N	556;506;556;536;67	ENSP00000262625:S556N;ENSP00000345067:S506N;ENSP00000353331:S556N	ENSP00000262625:S556N	S	+	2	0	KIRREL2	41045720	0.958000	0.32768	0.945000	0.38365	0.102000	0.19082	1.580000	0.36547	2.321000	0.78463	0.561000	0.74099	AGC	G|0.959;A|0.041	0.041	strong		0.607	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36353880	G	A	36353880	3	1	22	1	0	0	0	0	1	0	0	0	8325	971	34	2	1717	2	KIRREL2	19	36353880	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1974	36353880	22775103	9809	14917										
APLP1	333	hgsc.bcm.edu	37	chr19	36370011	36370011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgtcccgtgaggctgtGtcgggtctgctgatcatggg	19	8	2	2	rs2227909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36370011G>A	ENST00000221891.4	+	16	1941	c.1749G>A	c.(1747-1749)gtG>gtA	p.V583V	APLP1_ENST00000537454.2_Silent_p.V543V|RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000586861.1_Silent_p.V576V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	582					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGAGGCTGTGTCGGGTCTGC	0.637													G|||	577	0.115216	0.3003	0.0403	5008	,	,		17147	0.0823		0.0249	False		,,,				2504	0.045				p.V583V		Atlas-SNP	.											.	APLP1	77	.	0			c.G1749A						PASS	.	G	,	1211,3195	421.3+/-339.3	163,885,1155	47	48	47		1749,1746	5.2	1	19	dbSNP_98	47	306,8294	109.6+/-170.1	2,302,3996	no	coding-synonymous,coding-synonymous	APLP1	NM_001024807.1,NM_005166.3	,	165,1187,5151	AA,AG,GG		3.5581,27.4852,11.6638	,	583/652,582/651	36370011	1517,11489	2203	4300	6503	SO:0001819	synonymous_variant	333	exon16			GGCTGTGTCGGGT	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1749G>A	19.37:g.36370011G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_001024807	O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																			G|0.886;A|0.114	0.114	strong		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36370011	G	A	36370011	2	1	22	1	0	0	0	0	0	0	0	1	778	1364	48	2		2	APLP1	19	36370011	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16131	36370011	22758972	9810	14918										
NFKBID	84807	hgsc.bcm.edu	37	chr19	36387881	36387881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcatgtgagctcgggccAcctccagcgatggtccaggg	14	14	0	1	rs8113704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36387881A>G	ENST00000396901.1	-	5	659	c.86T>C	c.(85-87)gTg>gCg	p.V29A	NFKBID_ENST00000352614.2_Missense_Mutation_p.V181A|NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.V29A	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	29			V -> A (in dbSNP:rs8113704).		inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AGCTCGGGCCACCTCCAGCGA	0.617													G|||	988	0.197284	0.5333	0.0778	5008	,	,		15936	0.1151		0.0318	False		,,,				2504	0.0828				p.V29A		Atlas-SNP	.											.	NFKBID	30	.	0			c.T86C						PASS	.	G	ALA/VAL	1756,2146		402,952,597	47	52	50		86	4.7	0	19	dbSNP_116	50	387,7893		2,383,3755	yes	missense	NFKBID	NM_139239.1	64	404,1335,4352	GG,GA,AA		4.6739,45.0026,17.5915	benign	29/314	36387881	2143,10039	1951	4140	6091	SO:0001583	missense	84807	exon5			CGGGCCACCTCCA	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.86T>C	19.37:g.36387881A>G	ENSP00000380109:p.Val29Ala	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	170	169	0.994118	NM_139239	Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	CCDS42552.1	350	0.16025641025641027	216	0.43902439024390244	31	0.0856353591160221	78	0.13636363636363635	25	0.032981530343007916	G	0.008	-1.933930	0.00488	0.450026	0.046739	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.54071	0.59;1.2	4.74	4.74	0.60224	.	1.395380	0.04214	N	0.332260	T	0.00012	0.0000	N	0.02539	-0.55	0.54753	P	2.0000000000020002E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40213	-0.9575	9	0.07030	T	0.85	.	6.1006	0.20045	0.0951:0.0:0.7206:0.1843	rs8113704;rs58139929;rs8113704	181;29	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	A	181;29	ENSP00000252985:V181A;ENSP00000380109:V29A	ENSP00000252985:V181A	V	-	2	0	NFKBID	41079721	0.500000	0.26091	0.038000	0.18304	0.149000	0.21700	2.646000	0.46630	1.245000	0.43885	-0.215000	0.12644	GTG	A|0.840;G|0.160	0.160	strong		0.617	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		G	36387881	A	G	36387881	3	3	22	1	0	0	0	0	1	0	0	0	10379	159	6	2	887	2	NFKBID	19	36387881	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17870	36387881	22741102	9811	14919										
HCST	10870	hgsc.bcm.edu	37	chr19	36394272	36394272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggctgcagctcagacgacTccaggagagagatcatcact	12	11	3	3	rs33964243	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36394272T>C	ENST00000246551.4	+	2	177	c.63T>C	c.(61-63)acT>acC	p.T21T	NFKBID_ENST00000396901.1_5'Flank|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank|HCST_ENST00000437550.2_Silent_p.T21T			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	21					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCAGACGACTCCAGGAGAGA	0.562													C|||	759	0.151558	0.4266	0.0548	5008	,	,		19857	0.1002		0.0099	False		,,,				2504	0.047				p.T21T		Atlas-SNP	.											.	HCST	10	.	0			c.T63C						PASS	.	C	,	1636,2770	659.8+/-400.6	306,1024,873	113	100	105		63,63	1.4	0.1	19	dbSNP_126	105	127,8473	813.8+/-407.0	1,125,4174	no	coding-synonymous,coding-synonymous	HCST	NM_001007469.1,NM_014266.3	,	307,1149,5047	CC,CT,TT		1.4767,37.1312,13.5553	,	21/93,21/94	36394272	1763,11243	2203	4300	6503	SO:0001819	synonymous_variant	10870	exon2			GACGACTCCAGGA	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"DNAX-activation protein 10", "kinase assoc pro of ~10kDa"	604089	"phosphoinositide-3-kinase adaptor protein"	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.63T>C	19.37:g.36394272T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_001007469	Q9UBS1|Q9Y3Y0	Silent	SNP	ENST00000246551.4	37	CCDS32998.1																																																																																			T|0.876;C|0.124	0.124	strong		0.562	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266		C	36394272	T	C	36394272	2	2	22	1	0	0	0	0	0	0	0	1	7003	1538	54	3		3	HCST	19	36394272	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6391	36394272	22734711	9812	14920										
LRFN3	79414	hgsc.bcm.edu	37	chr19	36430465	36430465	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctaagcgtgctgtgcccAggggcaggcctcctgttcgt	13	15	0	0	rs2242590	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36430465A>C	ENST00000588831.1	+	3	1192	c.138A>C	c.(136-138)ccA>ccC	p.P46P	LRFN3_ENST00000246529.3_Silent_p.P46P			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	46	LRRNT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCTGTGCCCAGGGGCAGGCC	0.721													A|||	793	0.158347	0.382	0.1009	5008	,	,		14139	0.126		0.0268	False		,,,				2504	0.0654				p.P46P		Atlas-SNP	.											.	LRFN3	43	.	0			c.A138C						PASS	.	A		1285,3057		187,911,1073	14	17	16		138	-9.2	0.7	19	dbSNP_98	16	287,8231		2,283,3974	no	coding-synonymous	LRFN3	NM_024509.1		189,1194,5047	CC,CA,AA		3.3693,29.5947,12.224		46/629	36430465	1572,11288	2171	4259	6430	SO:0001819	synonymous_variant	79414	exon2			GTGCCCAGGGGCA	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.138A>C	19.37:g.36430465A>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	26	26	1	NM_024509	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			A|0.876;C|0.124	0.124	strong		0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		C	36430465	A	C	36430465	2	2	22	1	0	0	0	0	0	0	0	1	8939	175	7	5		5	LRFN3	19	36430465	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	36193	36430465	22698518	9813	14921										
LRFN3	79414	hgsc.bcm.edu	37	chr19	36430798	36430798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggatgattgtgccgagacActggaggacctcgacctctc	12	12	1	2	rs1057265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36430798A>G	ENST00000588831.1	+	3	1525	c.471A>G	c.(469-471)acA>acG	p.T157T	LRFN3_ENST00000246529.3_Silent_p.T157T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	157					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGCCGAGACACTGGAGGACC	0.667													G|||	800	0.159744	0.3865	0.1009	5008	,	,		14187	0.127		0.0268	False		,,,				2504	0.0654				p.T157T		Atlas-SNP	.											LRFN3,NS,carcinoma,0,1	LRFN3	43	1	0			c.A471G						PASS	.	G		1420,2986		224,972,1007	48	45	46		471	-8.7	0.5	19	dbSNP_86	46	306,8288		2,302,3993	no	coding-synonymous	LRFN3	NM_024509.1		226,1274,5000	GG,GA,AA		3.5606,32.2288,13.2769		157/629	36430798	1726,11274	2203	4297	6500	SO:0001819	synonymous_variant	79414	exon2			CGAGACACTGGAG	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.471A>G	19.37:g.36430798A>G		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_024509	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			A|0.872;G|0.128	0.128	strong		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		G	36430798	A	G	36430798	2	3	22	1	0	0	0	0	0	0	0	1	8939	146	6	2		2	LRFN3	19	36430798	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	333	36430798	22698185	9814	14922										
LRFN3	79414	hgsc.bcm.edu	37	chr19	36435564	36435564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccacggggctcacggccacGcggcctgtgggctgcgcccg	17	17	1	0	rs2293756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36435564G>A	ENST00000588831.1	+	4	2584	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Silent_p.T510T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	510	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCACGGCCACGCGGCCTGTGG	0.711													A|||	421	0.0840655	0.1808	0.0749	5008	,	,		12088	0.1151		0.002	False		,,,				2504	0.0123				p.T510T		Atlas-SNP	.											.	LRFN3	43	.	0			c.G1530A						PASS	.	A		600,3792		36,528,1632	12	13	13		1530	-10.1	0.1	19	dbSNP_100	13	40,8522		1,38,4242	no	coding-synonymous	LRFN3	NM_024509.1		37,566,5874	AA,AG,GG		0.4672,13.6612,4.9406		510/629	36435564	640,12314	2196	4281	6477	SO:0001819	synonymous_variant	79414	exon3			GGCCACGCGGCCT	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1530G>A	19.37:g.36435564G>A		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	9	9	1	NM_024509	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			G|0.934;A|0.066	0.066	strong		0.711	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		A	36435564	G	A	36435564	2	1	22	1	0	0	0	0	0	0	0	1	8939	1074	38	1		1	LRFN3	19	36435564	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4766	36435564	22693419	9815	14923										
C19orf46	163183	hgsc.bcm.edu	37	chr19	36497747	36497747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcaggatctgctccagggCtgcccaggccctgggctcac	13	17	2	0	rs77925409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36497747C>G	ENST00000324444.3	-	4	634	c.523G>C	c.(523-525)Gcc>Ccc	p.A175P	ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Intron|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	175					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											TGCTCCAGGGCTGCCCAGGCC	0.687													C|||	140	0.0279553	0.1006	0.0101	5008	,	,		14555	0.0		0.0	False		,,,				2504	0.0				p.A175P		Atlas-SNP	.											.	.	.	.	0			c.G523C						PASS	.	C	PRO/ALA	304,3792		11,282,1755	14	21	19		523	-1.4	0	19	dbSNP_131	19	6,8318		0,6,4156	yes	missense	C19orf46	NM_001039876.1	27	11,288,5911	GG,GC,CC		0.0721,7.4219,2.496	possibly-damaging	175/405	36497747	310,12110	2048	4162	6210	SO:0001583	missense	163183	exon4			CCAGGGCTGCCCA	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.523G>C	19.37:g.36497747C>G	ENSP00000316130:p.Ala175Pro	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	85	36	0.423529	NM_001039876	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	CCDS42553.1	40	0.018315018315018316	34	0.06910569105691057	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	13.03	2.114112	0.37339	0.074219	7.21E-4	ENSG00000181392	ENST00000324444;ENST00000490730	T;T	0.53206	0.63;0.63	5.95	-1.44	0.08856	.	0.656922	0.16361	N	0.217750	T	0.02380	0.0073	L	0.40543	1.245	0.09310	N	1	B;B	0.21381	0.055;0.001	B;B	0.20577	0.03;0.002	T	0.07046	-1.0793	10	0.48119	T	0.1	-12.2768	2.0383	0.03545	0.2949:0.4044:0.1655:0.1353	.	175;175	D6RAE3;Q8N205	.;SYNE4_HUMAN	P	175	ENSP00000316130:A175P;ENSP00000422716:A175P	ENSP00000316130:A175P	A	-	1	0	C19orf46	41189587	0.002000	0.14202	0.030000	0.17652	0.956000	0.61745	-0.333000	0.07894	-0.067000	0.12976	-0.262000	0.10625	GCC	C|0.979;G|0.021	0.021	strong		0.687	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		G	36497747	C	G	36497747	3	3	22	1	0	0	0	0	1	0	0	0	1929	797	28	4	711	4	C19orf46	19	36497747	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	62183	36497747	22631236	9816	14924										
WDR62	284403	hgsc.bcm.edu	37	chr19	36583692	36583692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcagcacacaaatgacaAgaagcggagtggccacccca	11	13	0	2	rs61747277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36583692A>G	ENST00000270301.7	+	19	2312	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	WDR62_ENST00000401500.2_Missense_Mutation_p.K771R			O43379	WDR62_HUMAN	WD repeat domain 62	771					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAAATGACAAGAAGCGGAGT	0.622													A|||	92	0.0183706	0.0673	0.0029	5008	,	,		16554	0.0		0.001	False		,,,				2504	0.0				p.K771R		Atlas-SNP	.											.	WDR62	102	.	0			c.A2312G						PASS	.	A	ARG/LYS,ARG/LYS	268,4138	149.9+/-184.0	11,246,1946	72	75	74		2312,2312	-4.4	0	19	dbSNP_129	74	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	WDR62	NM_001083961.1,NM_173636.4	26,26	11,252,6240	GG,GA,AA		0.0698,6.0826,2.1067	benign,benign	771/1524,771/1519	36583692	274,12732	2203	4300	6503	SO:0001583	missense	284403	exon19			ATGACAAGAAGCG	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2312A>G	19.37:g.36583692A>G	ENSP00000270301:p.Lys771Arg	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	170	76	0.447059	NM_173636	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	34	0.015567765567765568	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	A	5.908	0.351581	0.11182	0.060826	6.98E-4	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.43294	0.95;0.95	5.01	-4.44	0.03557	.	0.201397	0.41938	D	0.000797	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	10	0.15952	T	0.53	0.0189	7.3192	0.26517	0.5771:0.1282:0.2946:0.0	rs61747277	771;771	O43379-4;O43379	.;WDR62_HUMAN	R	771	ENSP00000384792:K771R;ENSP00000270301:K771R	ENSP00000270301:K771R	K	+	2	0	WDR62	41275532	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.452000	0.07087	-0.132000	0.14878	AAG	A|0.982;G|0.018	0.018	strong		0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		G	36583692	A	G	36583692	3	3	22	1	0	0	0	0	1	0	0	0	17310	72	3	3	2386	3	WDR62	19	36583692	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85945	36583692	22545291	9817	14925										
WDR62	284403	hgsc.bcm.edu	37	chr19	36594404	36594404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggccactgccagctcccGtgccaggatatcacgcagca	12	15	1	0	rs61743589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36594404G>A	ENST00000270301.7	+	30	3659	c.3659G>A	c.(3658-3660)cGt>cAt	p.R1220H	WDR62_ENST00000401500.2_Missense_Mutation_p.R1225H			O43379	WDR62_HUMAN	WD repeat domain 62	1220					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAGCTCCCGTGCCAGGATA	0.652													G|||	112	0.0223642	0.0794	0.0101	5008	,	,		19415	0.0		0.0	False		,,,				2504	0.0				p.R1225H		Atlas-SNP	.											.	WDR62	102	.	0			c.G3674A						PASS	.	G	HIS/ARG,HIS/ARG	315,4091	168.7+/-199.5	11,293,1899	88	82	84		3674,3659	-9.4	0	19	dbSNP_129	84	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense	WDR62	NM_001083961.1,NM_173636.4	29,29	11,298,6194	AA,AG,GG		0.0581,7.1493,2.4604	benign,benign	1225/1524,1220/1519	36594404	320,12686	2203	4300	6503	SO:0001583	missense	284403	exon30			GCTCCCGTGCCAG	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3659G>A	19.37:g.36594404G>A	ENSP00000270301:p.Arg1220His	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	119	56	0.470588	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	33	0.01510989010989011	31	0.06300813008130081	2	0.0055248618784530384	0	0.0	0	0.0	G	1.107	-0.659223	0.03454	0.071493	5.81E-4	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.48201	0.91;0.82	4.93	-9.42	0.00610	.	1.133150	0.06589	N	0.751672	T	0.01558	0.0050	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.13845	-1.0494	10	0.13853	T	0.58	1.1471	9.9297	0.41514	0.2448:0.0:0.6539:0.1013	rs61743589	1225;1220	O43379-4;O43379	.;WDR62_HUMAN	H	1225;1220	ENSP00000384792:R1225H;ENSP00000270301:R1220H	ENSP00000270301:R1220H	R	+	2	0	WDR62	41286244	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.741000	0.04855	-2.003000	0.00962	-1.360000	0.01215	CGT	G|0.981;A|0.019	0.019	strong		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		A	36594404	G	A	36594404	3	1	22	1	0	0	0	0	1	0	0	0	17310	1145	40	1	3792	1	WDR62	19	36594404	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10712	36594404	22534579	9818	14926										
ZFP14	57677	hgsc.bcm.edu	37	chr19	36832427	36832427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccattatatcccactgaaAtgaatatatttcataaatgt	3	7	1	2	rs115297808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36832427A>T	ENST00000270001.7	-	5	416	c.301T>A	c.(301-303)Ttt>Att	p.F101I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCCCACTGAAATGAATATATT	0.343													A|||	69	0.013778	0.0507	0.0029	5008	,	,		17204	0.0		0.0	False		,,,				2504	0.0				p.F101I		Atlas-SNP	.											.	ZFP14	68	.	0			c.T301A						PASS	.	A	ILE/PHE	147,4259	94.8+/-133.5	4,139,2060	52	54	53		301	2	0.5	19	dbSNP_132	53	2,8586	1.2+/-3.3	0,2,4292	yes	missense	ZFP14	NM_020917.2	21	4,141,6352	TT,TA,AA		0.0233,3.3364,1.1467	benign	101/534	36832427	149,12845	2203	4294	6497	SO:0001583	missense	57677	exon5			ACTGAAATGAATA	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.301T>A	19.37:g.36832427A>T	ENSP00000270001:p.Phe101Ile	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	118	61	0.516949	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	a	3.299	-0.143207	0.06669	0.033364	2.33E-4	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.06528	3.29	4.2	2.05	0.26809	.	0.326738	0.22483	N	0.059470	T	0.00666	0.0022	L	0.38175	1.15	0.19775	N	0.999956	B;B	0.16603	0.018;0.005	B;B	0.12837	0.008;0.008	T	0.44907	-0.9297	10	0.21014	T	0.42	.	4.3827	0.11302	0.691:0.2011:0.1079:0.0	.	101;101	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	I	101	ENSP00000270001:F101I	ENSP00000270001:F101I	F	-	1	0	ZFP14	41524267	0.005000	0.15991	0.453000	0.27007	0.613000	0.37349	1.042000	0.30303	0.240000	0.21263	0.523000	0.50628	TTT	A|0.990;T|0.010	0.010	strong		0.343	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		T	36832427	A	T	36832427	3	4	22	1	0	0	0	0	1	0	0	0	17636	101	4	5	1304	5	ZFP14	19	36832427	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	238023	36832427	22296556	9819	14927										
ZFP82	284406	hgsc.bcm.edu	37	chr19	36884651	36884651	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacattccttacattcataCggtttttcaccagtatgaat	4	11	2	1	rs114627398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36884651C>A	ENST00000392161.3	-	5	833	c.591G>T	c.(589-591)ccG>ccT	p.P197P	ZFP82_ENST00000392171.1_Silent_p.P197P	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACATTCATACGGTTTTTCAC	0.408													G|||	68	0.0135783	0.0499	0.0029	5008	,	,		22380	0.0		0.0	False		,,,				2504	0.0				p.P197P		Atlas-SNP	.											.	ZFP82	71	.	0			c.G591T						PASS	.	G		150,4256		4,142,2057	88	78	81		591	-4.1	1	19	dbSNP_132	81	2,8598		0,2,4298	no	coding-synonymous	ZFP82	NM_133466.2		4,144,6355	AA,AC,CC		0.0233,3.4044,1.1687		197/533	36884651	152,12854	2203	4300	6503	SO:0001819	synonymous_variant	284406	exon5			TTCATACGGTTTT	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.591G>T	19.37:g.36884651C>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	176	90	0.511364	NM_133466	Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	CCDS12493.1																																																																																			C|0.989;A|0.011	0.011	strong		0.408	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		A	36884651	C	A	36884651	2	1	22	1	0	0	0	0	0	0	0	1	17650	523	19	4		4	ZFP82	19	36884651	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52224	36884651	22244332	9820	14928										
ZNF566	84924	hgsc.bcm.edu	37	chr19	36940675	36940675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaatgtgaaggatggatggTgactcaaagtgggcagatct	15	4	2	3	rs35217571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:36940675T>C	ENST00000434377.2	-	5	542	c.461A>G	c.(460-462)cAc>cGc	p.H154R	ZNF566_ENST00000454319.1_Missense_Mutation_p.H155R|ZNF566_ENST00000493391.1_Missense_Mutation_p.H50R|ZNF566_ENST00000424129.2_Missense_Mutation_p.H154R|ZNF566_ENST00000392170.2_Missense_Mutation_p.H155R	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GGATGGATGGTGACTCAAAGT	0.393													T|||	78	0.0155751	0.0575	0.0029	5008	,	,		19069	0.0		0.0	False		,,,				2504	0.0				p.H155R		Atlas-SNP	.											.	ZNF566	40	.	0			c.A464G						PASS	.	T	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	208,4198	129.0+/-165.8	6,196,2001	146	145	145		464,461,461,461	2.8	0.6	19	dbSNP_126	145	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense	ZNF566	NM_001145343.1,NM_001145344.1,NM_001145345.1,NM_032838.4	29,29,29,29	6,203,6294	CC,CT,TT		0.0814,4.7208,1.6531	benign,benign,benign,benign	155/420,154/419,154/419,154/419	36940675	215,12791	2203	4300	6503	SO:0001583	missense	84924	exon5			GGATGGTGACTCA	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.461A>G	19.37:g.36940675T>C	ENSP00000415520:p.His154Arg	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	159	89	0.559748	NM_001145343	B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	CCDS12494.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	T	0.347	-0.946931	0.02304	0.047208	8.14E-4	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.04862	3.66;3.65;3.66;3.65;3.54;6.16	3.77	2.76	0.32466	.	0.718904	0.12064	N	0.502915	T	0.00637	0.0021	L	0.28054	0.825	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46582	-0.9181	10	0.20046	T	0.44	.	3.8345	0.08888	0.0:0.1142:0.2214:0.6644	rs35217571	155;154	B7ZL95;Q969W8	.;ZN566_HUMAN	R	155;154;155;154;154;155	ENSP00000394207:H155R;ENSP00000415520:H154R;ENSP00000376010:H155R;ENSP00000401259:H154R;ENSP00000411526:H154R;ENSP00000400651:H155R	ENSP00000376010:H155R	H	-	2	0	ZNF566	41632515	0.045000	0.20229	0.589000	0.28718	0.313000	0.28021	0.622000	0.24433	0.836000	0.34901	0.454000	0.30748	CAC	T|0.986;C|0.014	0.014	strong		0.393	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		C	36940675	T	C	36940675	3	2	22	1	0	0	0	0	1	0	0	0	17994	1696	59	2	799	2	ZNF566	19	36940675	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56024	36940675	22188308	9821	14929										
ZNF461	92283	hgsc.bcm.edu	37	chr19	37134737	37134737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattattgtccaagaaattaTtgtgaaatccccaagttttc	5	8	0	2	rs10419469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37134737T>C	ENST00000588268.1	-	5	487	c.260A>G	c.(259-261)aAt>aGt	p.N87S	ZNF461_ENST00000540605.2_5'Flank|ZNF461_ENST00000360357.4_Intron	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	87			N -> S (in dbSNP:rs10419469).		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(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			caagaaattattgtgaaatcc	0.274													T|||	447	0.0892572	0.1785	0.0677	5008	,	,		16955	0.0685		0.0577	False		,,,				2504	0.0378				p.N87S		Atlas-SNP	.											.	ZNF461	73	.	0			c.A260G						PASS	.	T	SER/ASN	294,1550		22,250,650	106	94	97		260	0.6	0.1	19	dbSNP_119	97	307,3845		13,281,1782	yes	missense	ZNF461	NM_153257.2	46	35,531,2432	CC,CT,TT		7.394,15.9436,10.0233	possibly-damaging	87/564	37134737	601,5395	922	2076	2998	SO:0001583	missense	92283	exon5			AAATTATTGTGAA	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.260A>G	19.37:g.37134737T>C	ENSP00000467931:p.Asn87Ser	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	47	18	0.382979	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	229	0.10485347985347986	113	0.22967479674796748	29	0.08011049723756906	48	0.08391608391608392	39	0.051451187335092345	T	2.014	-0.426386	0.04701	0.159436	0.07394	ENSG00000197808	ENST00000396893;ENST00000396892	.	.	.	0.625	0.625	0.17665	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	P	0.34587	0.458	B	0.39152	0.292	T	0.28332	-1.0047	6	0.48119	T	0.1	.	.	.	.	rs10419469;rs56479571;rs10419469	87	Q8TAF7	ZN461_HUMAN	S	87;22	.	ENSP00000380101:N22S	N	-	2	0	ZNF461	41826577	0.087000	0.21565	0.058000	0.19502	0.641000	0.38312	0.533000	0.23082	0.488000	0.27723	0.164000	0.16699	AAT	T|0.892;C|0.108	0.108	strong		0.274	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		C	37134737	T	C	37134737	3	2	22	1	0	0	0	0	1	0	0	0	17922	1493	52	2	1439	2	ZNF461	19	37134737	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	194062	37134737	21994246	9822	14930										
ZNF790	388536	hgsc.bcm.edu	37	chr19	37309790	37309790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgaaccacgaaaaaaggTctttccacattccttacatt	4	11	2	1	rs4369791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37309790T>A	ENST00000356725.4	-	5	1576	c.1456A>T	c.(1456-1458)Acc>Tcc	p.T486S	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	486			T -> S (in dbSNP:rs4369791).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CGAAAAAAGGTCTTTCCACAT	0.388													T|||	20	0.00399361	0.0151	0.0	5008	,	,		20361	0.0		0.0	False		,,,				2504	0.0				p.T486S		Atlas-SNP	.											.	ZNF790	89	.	0			c.A1456T						PASS	.	T	SER/THR,SER/THR,SER/THR,SER/THR	72,4334	65.3+/-102.7	1,70,2132	83	80	81		1456,1456,1456,1456	-1	0	19	dbSNP_111	81	0,8600		0,0,4300	yes	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	58,58,58,58	1,70,6432	AA,AT,TT		0.0,1.6341,0.5536	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	486/637,486/637,486/637,486/637	37309790	72,12934	2203	4300	6503	SO:0001583	missense	388536	exon5			AAAAGGTCTTTCC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1456A>T	19.37:g.37309790T>A	ENSP00000349161:p.Thr486Ser	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	19	0.463415	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	8.684	0.905767	0.17760	0.016341	0.0	ENSG00000197863	ENST00000356725	T	0.19105	2.17	3.14	-0.997	0.10215	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	N	0.03903	-0.33	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	T	0.32079	-0.9920	9	0.41790	T	0.15	.	4.173	0.10339	0.2887:0.4551:0.0:0.2562	rs4369791;rs52825956;rs4369791	486	Q6PG37	ZN790_HUMAN	S	486	ENSP00000349161:T486S	ENSP00000349161:T486S	T	-	1	0	ZNF790	42001630	0.000000	0.05858	0.034000	0.17996	0.389000	0.30415	0.069000	0.14552	-0.105000	0.12132	0.402000	0.26972	ACC	T|0.995;A|0.005	0.005	strong		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		A	37309790	T	A	37309790	3	1	22	1	0	0	0	0	1	0	0	0	18159	1667	58	5	458	5	ZNF790	19	37309790	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	175053	37309790	21819193	9823	14931										
ZNF790	388536	hgsc.bcm.edu	37	chr19	37310344	37310344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcaccagtatgaattctcTgatgtcgagtaagatctgag	9	7	3	4	rs3745775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37310344T>C	ENST00000356725.4	-	5	1022	c.902A>G	c.(901-903)cAg>cGg	p.Q301R	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	301			Q -> R (in dbSNP:rs3745775). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGAATTCTCTGATGTCGAGT	0.383													T|||	1455	0.290535	0.2988	0.2161	5008	,	,		19923	0.2232		0.2922	False		,,,				2504	0.3998				p.Q301R		Atlas-SNP	.											.	ZNF790	89	.	0			c.A902G						PASS	.	T	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	1261,3145	425.7+/-340.9	183,895,1125	55	57	56		902,902,902,902	2.1	0.2	19	dbSNP_107	56	2337,6263	385.3+/-341.4	335,1667,2298	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	43,43,43,43	518,2562,3423	CC,CT,TT		27.1744,28.6201,27.6642	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	301/637,301/637,301/637,301/637	37310344	3598,9408	2203	4300	6503	SO:0001583	missense	388536	exon5			ATTCTCTGATGTC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.902A>G	19.37:g.37310344T>C	ENSP00000349161:p.Gln301Arg	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	52	28	0.538462	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	569	0.26053113553113555	152	0.3089430894308943	89	0.24585635359116023	121	0.21153846153846154	207	0.27308707124010556	T	13.67	2.307549	0.40795	0.286201	0.271744	ENSG00000197863	ENST00000356725	T	0.17691	2.26	3.14	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12831	0.26	0.58432	P	1.0000000000287557E-6	B	0.23185	0.081	B	0.18263	0.021	T	0.44907	-0.9297	8	0.52906	T	0.07	.	7.2311	0.26043	0.0:0.1139:0.0:0.8861	rs3745775;rs17846550;rs17859625;rs52814390;rs3745775	301	Q6PG37	ZN790_HUMAN	R	301	ENSP00000349161:Q301R	ENSP00000349161:Q301R	Q	-	2	0	ZNF790	42002184	0.002000	0.14202	0.207000	0.23584	0.976000	0.68499	0.644000	0.24766	0.425000	0.26087	0.402000	0.26972	CAG	T|0.723;C|0.277	0.277	strong		0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		C	37310344	T	C	37310344	3	2	22	1	0	0	0	0	1	0	0	0	18159	1580	55	3	1012	3	ZNF790	19	37310344	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	554	37310344	21818639	9824	14932										
ZNF420	147923	hgsc.bcm.edu	37	chr19	37618157	37618157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagagtccaattccagggaTtatttggaagccaaaggcaa	11	7	0	1	rs78427535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37618157T>C	ENST00000337995.3	+	5	479	c.264T>C	c.(262-264)gaT>gaC	p.D88D	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Silent_p.D88D|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCCAGGGATTATTTGGAAG	0.373													T|||	88	0.0175719	0.0628	0.0072	5008	,	,		18952	0.0		0.0	False		,,,				2504	0.0				p.D88D		Atlas-SNP	.											.	ZNF420	71	.	0			c.T264C						PASS	.	T		250,4156	145.0+/-179.8	7,236,1960	83	83	83		264	-4.2	0	19	dbSNP_131	83	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ZNF420	NM_144689.3		7,243,6253	CC,CT,TT		0.0814,5.6741,1.976		88/689	37618157	257,12749	2203	4300	6503	SO:0001819	synonymous_variant	147923	exon5			CAGGGATTATTTG	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.264T>C	19.37:g.37618157T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	148	72	0.486486	NM_144689	B2RDY6|Q96ML5	Silent	SNP	ENST00000337995.3	37	CCDS12498.1																																																																																			T|0.984;C|0.016	0.016	strong		0.373	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		C	37618157	T	C	37618157	2	2	22	1	0	0	0	0	0	0	0	1	17894	1490	52	2		2	ZNF420	19	37618157	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	307813	37618157	21510826	9825	14933										
ZNF585B	92285	hgsc.bcm.edu	37	chr19	37697988	37697988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccagggctgaggatttcTggggtgaggtccaactagct	16	8	1	2	rs145040657		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37697988T>C	ENST00000532828.2	-	2	277	c.26A>G	c.(25-27)cAg>cGg	p.Q9R	ZNF585B_ENST00000527838.1_Missense_Mutation_p.Q9R|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.Q9R|ZNF585B_ENST00000534363.1_5'Flank	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGATTTCTGGGGTGAGGT	0.532													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19866	0.0		0.0	False		,,,				2504	0.0				p.Q9R	Melanoma(93;882 1454 18863 28917 48427)	Atlas-SNP	.											.	ZNF585B	91	.	0			c.A26G						PASS	.	T	ARG/GLN	5,4401	9.9+/-24.2	0,5,2198	120	104	109		26	0.6	0	19	dbSNP_134	109	0,8600		0,0,4300	yes	missense	ZNF585B	NM_152279.3	43	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	benign	9/770	37697988	5,13001	2203	4300	6503	SO:0001583	missense	92285	exon2			GATTTCTGGGGTG	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.26A>G	19.37:g.37697988T>C	ENSP00000433773:p.Gln9Arg	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	8.991	0.977714	0.18812	0.001135	0.0	ENSG00000245680	ENST00000532828;ENST00000527838	T;T	0.06933	3.24;6.86	1.79	0.647	0.17796	.	.	.	.	.	T	0.06690	0.0171	L	0.52573	1.65	0.09310	N	1	B	0.31655	0.334	B	0.15870	0.014	T	0.32534	-0.9903	9	0.87932	D	0	.	3.6073	0.08048	0.374:0.0:0.0:0.626	.	9	Q52M93	Z585B_HUMAN	R	9	ENSP00000433773:Q9R;ENSP00000435268:Q9R	ENSP00000432760:Q9R	Q	-	2	0	ZNF585B	42389828	0.048000	0.20356	0.004000	0.12327	0.700000	0.40528	0.118000	0.15605	0.117000	0.18138	0.260000	0.18958	CAG	T|1.000;C|0.000	0.000	strong		0.532	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		C	37697988	T	C	37697988	3	2	22	1	0	0	0	0	1	0	0	0	18015	1580	55	3	2299	3	ZNF585B	19	37697988	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79831	37697988	21430995	9826	14934										
HKR1	284459	hgsc.bcm.edu	37	chr19	37854580	37854580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcattagacaccagaggaCacattcaggagagaagcctt	9	11	2	3	rs3745764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37854580C>T	ENST00000324411.4	+	6	2152	c.1883C>T	c.(1882-1884)aCa>aTa	p.T628I	HKR1_ENST00000544914.1_Missense_Mutation_p.T355I|HKR1_ENST00000392153.3_Missense_Mutation_p.T609I|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Missense_Mutation_p.T355I|HKR1_ENST00000589392.1_Missense_Mutation_p.T610I|HKR1_ENST00000541583.2_Missense_Mutation_p.T567I	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	628			T -> I (in dbSNP:rs3745764).		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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCAGAGGACACATTCAGGA	0.507													C|||	943	0.188299	0.1067	0.1801	5008	,	,		21232	0.1627		0.2614	False		,,,				2504	0.2556				p.T628I		Atlas-SNP	.											.	HKR1	74	.	0			c.C1883T						PASS	.	C	ILE/THR	628,3778	273.1+/-271.2	54,520,1629	73	74	73		1883	-0.5	1	19	dbSNP_107	73	2192,6408	374.0+/-337.2	287,1618,2395	yes	missense	HKR1	NM_181786.2	89	341,2138,4024	TT,TC,CC		25.4884,14.2533,21.6823	benign	628/660	37854580	2820,10186	2203	4300	6503	SO:0001583	missense	284459	exon6			AGAGGACACATTC	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1883C>T	19.37:g.37854580C>T	ENSP00000315505:p.Thr628Ile	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	177	82	0.463277	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	399|399	0.18269230769230768|0.18269230769230768	61|61	0.12398373983739837|0.12398373983739837	69|69	0.19060773480662985|0.19060773480662985	77|77	0.1346153846153846|0.1346153846153846	192|192	0.2532981530343008|0.2532981530343008	C|C	8.511|8.511	0.866564|0.866564	0.17250|0.17250	0.142533|0.142533	0.254884|0.254884	ENSG00000181666|ENSG00000181666	ENST00000542144|ENST00000544914;ENST00000414402;ENST00000392153;ENST00000324411;ENST00000541583	.|T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61	2.96|2.96	-0.455|-0.455	0.12193|0.12193	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04636|0.04636	-0.2|-0.2	0.09310|0.09310	P|P	0.999999121925|0.999999121925	.|B;B;B;B	.|0.11235	.|0.0;0.004;0.001;0.001	.|B;B;B;B	.|0.19148	.|0.003;0.024;0.005;0.001	T|T	0.33828|0.33828	-0.9853|-0.9853	5|8	0.87932|0.09590	D|T	0|0.72	.|.	4.441|4.441	0.11573|0.11573	0.177:0.5389:0.0:0.284|0.177:0.5389:0.0:0.284	rs3745764;rs17585173;rs52828567;rs3745764|rs3745764;rs17585173;rs52828567;rs3745764	.|567;609;628;610	.|Q7Z6E1;P10072-2;P10072;B4DSY3	.|.;.;HKR1_HUMAN;.	Y|I	663|355;407;609;628;567	.|ENSP00000437774:T355I;ENSP00000375994:T609I;ENSP00000315505:T628I;ENSP00000438261:T567I	ENSP00000440633:H663Y|ENSP00000315505:T628I	H|T	+|+	1|2	0|0	HKR1|HKR1	42546420|42546420	0.000000|0.000000	0.05858|0.05858	0.979000|0.979000	0.43373|0.43373	0.992000|0.992000	0.81027|0.81027	-0.735000|-0.735000	0.04888|0.04888	0.077000|0.077000	0.16863|0.16863	0.650000|0.650000	0.86243|0.86243	CAC|ACA	C|0.794;T|0.206	0.206	strong		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		T	37854580	C	T	37854580	3	4	22	1	0	0	0	0	1	0	0	0	7194	478	17	2	1897	2	HKR1	19	37854580	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	156592	37854580	21274403	9827	14935										
ZNF570	148268	hgsc.bcm.edu	37	chr19	37975400	37975400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgcacacctagttcaacaTctgcgagttcatactggaga	8	10	3	1	rs78317808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:37975400T>C	ENST00000330173.1	+	5	1405	c.876T>C	c.(874-876)caT>caC	p.H292H	ZNF570_ENST00000586475.1_Silent_p.H348H|ZNF570_ENST00000388801.3_Silent_p.H89H	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	292					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)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTTCAACATCTGCGAGTTC	0.423													T|||	91	0.0181709	0.0651	0.0072	5008	,	,		21985	0.0		0.0	False		,,,				2504	0.0				p.H292H		Atlas-SNP	.											.	ZNF570	58	.	0			c.T876C						PASS	.	T		263,4143	148.0+/-182.4	8,247,1948	77	73	74		876	2.2	1	19	dbSNP_131	74	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ZNF570	NM_144694.1		8,253,6242	CC,CT,TT		0.0698,5.9691,2.0683		292/537	37975400	269,12737	2203	4300	6503	SO:0001819	synonymous_variant	148268	exon5			TCAACATCTGCGA	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.876T>C	19.37:g.37975400T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	61	36	0.590164	NM_144694	A1L472|B4DMP1	Silent	SNP	ENST00000330173.1	37	CCDS12504.1																																																																																			T|0.983;C|0.017	0.017	strong		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		C	37975400	T	C	37975400	2	2	22	1	0	0	0	0	0	0	0	1	17999	1432	50	2		2	ZNF570	19	37975400	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	120820	37975400	21153583	9828	14936										
ZNF540	163255	hgsc.bcm.edu	37	chr19	38102955	38102955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttactctttacccacaactTaatcgacatcagaaaattca	2	11	3	1	rs115588579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38102955T>C	ENST00000592533.1	+	5	1106	c.774T>C	c.(772-774)ctT>ctC	p.L258L	ZNF540_ENST00000589117.1_Silent_p.L226L|ZNF540_ENST00000316433.4_Silent_p.L258L|ZNF540_ENST00000343599.5_Silent_p.L258L	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	258					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCCACAACTTAATCGACATC	0.343													T|||	33	0.00658946	0.0227	0.0043	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.0				p.L258L		Atlas-SNP	.											.	ZNF540	75	.	0			c.T774C						PASS	.	T	,,	77,4329	64.7+/-102.0	1,75,2127	33	35	35		774,678,774	1.3	0	19	dbSNP_132	35	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF540	NM_001172225.1,NM_001172226.1,NM_152606.3	,,	1,76,6424	CC,CT,TT		0.0116,1.7476,0.5999	,,	258/661,226/629,258/661	38102955	78,12924	2203	4298	6501	SO:0001819	synonymous_variant	163255	exon5			ACAACTTAATCGA	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.774T>C	19.37:g.38102955T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	CCDS12506.1																																																																																			T|0.992;C|0.008	0.008	strong		0.343	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		C	38102955	T	C	38102955	2	2	22	1	0	0	0	0	0	0	0	1	17972	1741	61	2		2	ZNF540	19	38102955	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	127555	38102955	21026028	9829	14937										
ZNF781	163115	hgsc.bcm.edu	37	chr19	38160255	38160255	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagctgaacaattgttaaAagctctaccacattctttac	5	9	2	2	rs73932934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38160255A>C	ENST00000590008.1	-	5	1647	c.795T>G	c.(793-795)ctT>ctG	p.L265L	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Silent_p.L265L			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	265					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)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTGTTAAAAGCTCTACCA	0.383													A|||	189	0.0377396	0.1354	0.0144	5008	,	,		20442	0.0		0.0	False		,,,				2504	0.0				p.L265L		Atlas-SNP	.											.	ZNF781	66	.	0			c.T795G						PASS	.	A		401,4005	196.7+/-221.0	20,361,1822	87	91	90		795	1.4	0	19	dbSNP_130	90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF781	NM_152605.3		20,364,6119	CC,CA,AA		0.0349,9.1012,3.1063		265/328	38160255	404,12602	2203	4300	6503	SO:0001819	synonymous_variant	163115	exon4			TGTTAAAAGCTCT	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.795T>G	19.37:g.38160255A>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_152605	Q2VPJ8	Silent	SNP	ENST00000590008.1	37	CCDS12507.1																																																																																			A|0.967;C|0.033	0.033	strong		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		C	38160255	A	C	38160255	2	2	22	1	0	0	0	0	0	0	0	1	18151	1	1	5		5	ZNF781	19	38160255	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	57300	38160255	20968728	9830	14938										
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38610394	38610394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgttcaactgctactgcGgggatgtcattggctggact	14	8	2	0	rs140119542	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38610394G>A	ENST00000222345.6	+	9	3249	c.2740G>A	c.(2740-2742)Ggg>Agg	p.G914R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	914					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGCTACTGCGGGGATGTCAT	0.532													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.002				p.G914R		Atlas-SNP	.											SIPA1L3,caecum,carcinoma,0,1	SIPA1L3	150	1	0			c.G2740A						PASS	.	G	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	98	108	105		2740	5.8	1	19	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIPA1L3	NM_015073.1	125	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	914/1782	38610394	2,13002	2202	4300	6502	SO:0001583	missense	23094	exon9			TACTGCGGGGATG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2740G>A	19.37:g.38610394G>A	ENSP00000222345:p.Gly914Arg	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	66	33	0.5	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.917	0.960050	0.18507	2.27E-4	1.16E-4	ENSG00000105738	ENST00000222345	T	0.73152	-0.72	5.75	5.75	0.90469	.	0.183723	0.47852	D	0.000205	T	0.44871	0.1314	N	0.02345	-0.59	0.38997	D	0.959275	B	0.17852	0.024	B	0.14578	0.011	T	0.51725	-0.8669	10	0.02654	T	1	-42.3387	18.7237	0.91705	0.0:0.0:1.0:0.0	.	914	O60292	SI1L3_HUMAN	R	914	ENSP00000222345:G914R	ENSP00000222345:G914R	G	+	1	0	SIPA1L3	43302234	0.002000	0.14202	0.997000	0.53966	0.994000	0.84299	0.479000	0.22228	2.725000	0.93324	0.655000	0.94253	GGG	G|1.000;A|0.000	0.000	strong		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38610394	G	A	38610394	3	1	22	1	0	0	0	0	1	0	0	0	14331	1116	39	1	2766	1	SIPA1L3	19	38610394	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	450139	38610394	20518589	9831	14939										
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38610504	38610504	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtggaggacataagggaGatagtgcagagactgaaggt	16	4	1	3	rs59185302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38610504G>A	ENST00000222345.6	+	9	3359	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	950					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACATAAGGGAGATAGTGCAGA	0.532													G|||	711	0.141973	0.2224	0.1455	5008	,	,		19812	0.0893		0.1342	False		,,,				2504	0.093				p.E950E		Atlas-SNP	.											.	SIPA1L3	150	.	0			c.G2850A						PASS	.	G		783,3621		85,613,1504	25	27	26		2850	-5.9	0.4	19	dbSNP_129	26	1113,7485		87,939,3273	no	coding-synonymous	SIPA1L3	NM_015073.1		172,1552,4777	AA,AG,GG		12.9449,17.7793,14.5824		950/1782	38610504	1896,11106	2202	4299	6501	SO:0001819	synonymous_variant	23094	exon9			AAGGGAGATAGTG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2850G>A	19.37:g.38610504G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	38	21	0.552632	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			G|0.866;A|0.134	0.134	strong		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38610504	G	A	38610504	2	1	22	1	0	0	0	0	0	0	0	1	14331	933	33	2		2	SIPA1L3	19	38610504	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	110	38610504	20518479	9832	14940										
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38652993	38652993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcagcaggcaaagattcCcccaacaggcattccaaagt	9	12	0	1	rs332864	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38652993C>T	ENST00000222345.6	+	14	4271	c.3762C>T	c.(3760-3762)tcC>tcT	p.S1254S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1254					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAAAGATTCCCCCAACAGGC	0.632													C|||	1454	0.290335	0.0915	0.2968	5008	,	,		19272	0.2381		0.4682	False		,,,				2504	0.4254				p.S1254S		Atlas-SNP	.											SIPA1L3,NS,adenoma,0,1	SIPA1L3	150	1	0			c.C3762T						scavenged	.	C		611,3795	265.9+/-266.9	50,511,1642	96	75	82		3762	2.3	1	19	dbSNP_79	82	3808,4792	537.5+/-383.2	806,2196,1298	no	coding-synonymous	SIPA1L3	NM_015073.1		856,2707,2940	TT,TC,CC		44.2791,13.8675,33.9766		1254/1782	38652993	4419,8587	2203	4300	6503	SO:0001819	synonymous_variant	23094	exon14			AGATTCCCCCAAC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3762C>T	19.37:g.38652993C>T		Somatic	233	2	0.00858369		WXS	Illumina HiSeq	Phase_I	217	115	0.529954	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			C|0.679;T|0.321	0.321	strong		0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38652993	C	T	38652993	2	4	22	1	0	0	0	0	0	0	0	1	14331	610	22	2		2	SIPA1L3	19	38652993	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42489	38652993	20475990	9833	14941										
CATSPERG	57828	hgsc.bcm.edu	37	chr19	38834974	38834974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcttcctgaagagagaccGggacaataacatccaattca	9	11	1	3	rs61732182	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38834974G>A	ENST00000409235.3	+	6	750	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	CATSPERG_ENST00000410018.1_Missense_Mutation_p.R212Q|CATSPERG_ENST00000215069.4_Missense_Mutation_p.R197Q	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	212					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AAGAGAGACCGGGACAATAAC	0.537													G|||	14	0.00279553	0.0106	0.0	5008	,	,		19650	0.0		0.0	False		,,,				2504	0.0				p.R212Q		Atlas-SNP	.											.	CATSPERG	121	.	0			c.G635A						PASS	.	G	GLN/ARG	24,1360		0,24,668	133	116	121		635	-6.7	0	19	dbSNP_129	121	0,3182		0,0,1591	no	missense	CATSPERG	NM_021185.4	43	0,24,2259	AA,AG,GG		0.0,1.7341,0.5256	benign	212/1160	38834974	24,4542	692	1591	2283	SO:0001583	missense	57828	exon6			GAGACCGGGACAA	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.635G>A	19.37:g.38834974G>A	ENSP00000386962:p.Arg212Gln	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	127	69	0.543307	NM_021185	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	2.197	-0.383886	0.04966	0.017341	0.0	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.61	-6.69	0.01772	.	2.425480	0.01465	N	0.016055	T	0.06096	0.0158	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	10	0.27785	T	0.31	5.2025	7.9175	0.29827	0.255:0.2965:0.4485:0.0	rs61732182	212;212	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	212;212;212;197	ENSP00000387057:R212Q;ENSP00000386962:R212Q;ENSP00000386950:R212Q;ENSP00000215069:R197Q	ENSP00000215069:R197Q	R	+	2	0	CATSPERG	43526814	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.727000	0.00807	-1.348000	0.02205	-1.068000	0.02270	CGG	G|0.997;A|0.003	0.003	strong		0.537	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		A	38834974	G	A	38834974	3	1	22	1	0	0	0	0	1	0	0	0	2692	1116	39	1	653	1	CATSPERG	19	38834974	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	181981	38834974	20294009	9834	14942										
GGN	199720	hgsc.bcm.edu	37	chr19	38876944	38876944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggaccagagcacccttCgccgtctccatcacctccct	9	18	2	1	rs151268424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38876944C>T	ENST00000334928.6	-	3	1090	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	320	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGCACCCTTCGCCGTCTCCA	0.682													C|||	14	0.00279553	0.0106	0.0	5008	,	,		13386	0.0		0.0	False		,,,				2504	0.0				p.E320K		Atlas-SNP	.											.	GGN	50	.	0			c.G958A						PASS	.	C	LYS/GLU	53,4345		0,53,2146	24	28	27		958	3.3	1	19	dbSNP_134	27	0,8600		0,0,4300	yes	missense	GGN	NM_152657.3	56	0,53,6446	TT,TC,CC		0.0,1.2051,0.4078	possibly-damaging	320/653	38876944	53,12945	2199	4300	6499	SO:0001583	missense	199720	exon3			ACCCTTCGCCGTC	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.958G>A	19.37:g.38876944C>T	ENSP00000334940:p.Glu320Lys	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	32	10	0.3125	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	15.63	2.891749	0.52014	0.012051	0.0	ENSG00000179168	ENST00000334928	.	.	.	3.33	3.33	0.38152	.	0.000000	0.38005	N	0.001858	T	0.37183	0.0994	L	0.29908	0.895	0.30484	N	0.77204	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.28235	-1.0050	9	0.17369	T	0.5	-7.3092	10.004	0.41946	0.0:1.0:0.0:0.0	.	237;320	Q86UU5-2;Q86UU5	.;GGN_HUMAN	K	320	.	ENSP00000334940:E320K	E	-	1	0	GGN	43568784	0.987000	0.35691	1.000000	0.80357	0.788000	0.44548	1.158000	0.31737	1.679000	0.50963	0.462000	0.41574	GAA	C|0.996;T|0.004	0.004	strong		0.682	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		T	38876944	C	T	38876944	3	4	22	1	0	0	0	0	1	0	0	0	6358	893	31	1	1008	1	GGN	19	38876944	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41970	38876944	20252039	9835	14943										
RYR1	6261	hgsc.bcm.edu	37	chr19	38956803	38956803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctgacgccggcgcagacGacactggtggaccgtctggc	16	14	1	2	rs2228069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38956803G>A	ENST00000359596.3	+	24	2943	c.2943G>A	c.(2941-2943)acG>acA	p.T981T	RYR1_ENST00000360985.3_Silent_p.T981T|RYR1_ENST00000355481.4_Silent_p.T981T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	981	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGCGCAGACGACACTGGTGG	0.657													G|||	2732	0.545527	0.5212	0.6599	5008	,	,		15571	0.5298		0.6412	False		,,,				2504	0.4151				p.T981T		Atlas-SNP	.											.	RYR1	708	.	0			c.G2943A						PASS	.	G	,	2462,1938	602.3+/-389.9	704,1054,442	34	35	35		2943,2943	-7.6	0.1	19	dbSNP_98	35	5299,3299	624.8+/-397.6	1663,1973,663	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	2367,3027,1105	AA,AG,GG		38.3694,44.0455,40.2908	,	981/5039,981/5034	38956803	7761,5237	2200	4299	6499	SO:0001819	synonymous_variant	6261	exon24			GCAGACGACACTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2943G>A	19.37:g.38956803G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			A|0.594;C|0.000;G|0.406	0.594	strong		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38956803	G	A	38956803	2	1	22	1	0	0	0	0	0	0	0	1	13768	1045	37	1		1	RYR1	19	38956803	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79859	38956803	20172180	9836	14944										
RYR1	6261	hgsc.bcm.edu	37	chr19	38964275	38964275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgctcagctgggggctggAgcgaggcagagaacggcaaa	18	10	1	1	rs34694816	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:38964275A>G	ENST00000359596.3	+	28	4024	c.4024A>G	c.(4024-4026)Agc>Ggc	p.S1342G	RYR1_ENST00000360985.3_Missense_Mutation_p.S1342G|RYR1_ENST00000355481.4_Missense_Mutation_p.S1342G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1342	6 X approximate repeats.		S -> G (in dbSNP:rs34694816). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGGGGCTGGAGCGAGGCAGA	0.741													G|||	271	0.0541134	0.1936	0.0187	5008	,	,		12448	0.0		0.002	False		,,,				2504	0.0				p.S1342G		Atlas-SNP	.											.	RYR1	708	.	0			c.A4024G						PASS	.	G	GLY/SER,GLY/SER	450,3742		20,410,1666	6	8	7		4024,4024	4	1	19	dbSNP_126	7	5,8089		0,5,4042	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	20,415,5708	GG,GA,AA		0.0618,10.7347,3.7034	benign,benign	1342/5039,1342/5034	38964275	455,11831	2096	4047	6143	SO:0001583	missense	6261	exon28			GGCTGGAGCGAGG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4024A>G	19.37:g.38964275A>G	ENSP00000352608:p.Ser1342Gly	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	24	10	0.416667	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	114	0.0521978021978022	104	0.21138211382113822	9	0.024861878453038673	0	0.0	1	0.0013192612137203166	G	9.860	1.196031	0.22037	0.107347	6.18E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96745	-4.11;-4.11;-4.11	5.07	4.03	0.46877	.	0.085426	0.46758	N	0.000270	T	0.00440	0.0014	N	0.08118	0	0.51012	P	9.199999999998099E-5	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.47355	-0.9124	9	0.20519	T	0.43	.	8.5434	0.33406	0.1826:0.0:0.8174:0.0	rs34694816	1342;1342	P21817-2;P21817	.;RYR1_HUMAN	G	1342	ENSP00000352608:S1342G;ENSP00000347667:S1342G;ENSP00000354254:S1342G	ENSP00000347667:S1342G	S	+	1	0	RYR1	43656115	1.000000	0.71417	0.983000	0.44433	0.196000	0.23810	4.468000	0.60162	1.142000	0.42291	-0.355000	0.07637	AGC	A|0.949;G|0.051	0.051	strong		0.741	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38964275	A	G	38964275	3	3	22	1	0	0	0	0	1	0	0	0	13768	304	11	3	4134	3	RYR1	19	38964275	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7472	38964275	20164708	9837	14945										
RYR1	6261	hgsc.bcm.edu	37	chr19	39068641	39068641	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccacactagagatcacAgcccacaatgagcgcaagcc	9	15	1	2	rs1468571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39068641A>C	ENST00000359596.3	+	98	14256	c.14256A>C	c.(14254-14256)acA>acC	p.T4752T	RYR1_ENST00000360985.3_Silent_p.T4747T|RYR1_ENST00000355481.4_Silent_p.T4747T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4752					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TAGAGATCACAGCCCACAATG	0.637													C|||	771	0.153954	0.3427	0.1527	5008	,	,		15062	0.0952		0.0239	False		,,,				2504	0.0941				p.T4752T		Atlas-SNP	.											.	RYR1	708	.	0			c.A14256C						PASS	.	C	,	1243,3163	704.4+/-407.1	183,877,1143	66	61	62		14256,14241	-10.2	0	19	dbSNP_88	62	170,8430	811.6+/-407.1	3,164,4133	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	186,1041,5276	CC,CA,AA		1.9767,28.2115,10.8642	,	4752/5039,4747/5034	39068641	1413,11593	2203	4300	6503	SO:0001819	synonymous_variant	6261	exon98			GATCACAGCCCAC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14256A>C	19.37:g.39068641A>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	80	48	0.6	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			A|0.871;C|0.128	0.128	strong		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	39068641	A	C	39068641	2	2	22	1	0	0	0	0	0	0	0	1	13768	175	7	5		5	RYR1	19	39068641	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	104366	39068641	20060342	9838	14946										
EIF3K	27335	hgsc.bcm.edu	37	chr19	39125677	39125677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaatacggctggagtgccGacgagtcggggcagatcttc	15	10	1	1	rs138580388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39125677G>A	ENST00000538434.1	+	6	518	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EIF3K_ENST00000592558.1_Missense_Mutation_p.D156N|EIF3K_ENST00000248342.4_Missense_Mutation_p.D182N|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000593149.1_Missense_Mutation_p.D95N|EIF3K_ENST00000545173.2_Missense_Mutation_p.D182N					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGAGTGCCGACGAGTCGGG	0.542											OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	12	0.00239617	0.0091	0.0	5008	,	,		18892	0.0		0.0	False		,,,				2504	0.0				p.D182N		Atlas-SNP	.											.	EIF3K	22	.	0			c.G544A						PASS	.	G	ASN/ASP	25,4381	31.7+/-61.6	0,25,2178	89	80	83		544	3.2	0.1	19	dbSNP_134	83	0,8600		0,0,4300	yes	missense	EIF3K	NM_013234.2	23	0,25,6478	AA,AG,GG		0.0,0.5674,0.1922	benign	182/219	39125677	25,12981	2203	4300	6503	SO:0001583	missense	27335	exon7			AGTGCCGACGAGT	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.283G>A	19.37:g.39125677G>A	ENSP00000440999:p.Asp95Asn	Somatic	70	0	0	883	WXS	Illumina HiSeq	Phase_I	106	46	0.433962	NM_013234		Missense_Mutation	SNP	ENST00000538434.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.726	0.318348	0.10845	0.005674	0.0	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.36	3.2	0.36748	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.062209	0.64402	D	0.000005	T	0.18676	0.0448	N	0.25201	0.72	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.14504	-1.0470	9	0.87932	D	0	-16.4366	5.4949	0.16797	0.1755:0.0:0.661:0.1635	.	95;182;182	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	N	182;95;182	.	ENSP00000248342:D182N	D	+	1	0	EIF3K	43817517	0.010000	0.17322	0.080000	0.20451	0.512000	0.34134	0.612000	0.24283	1.397000	0.46682	0.549000	0.68633	GAC	G|0.998;A|0.002	0.002	strong		0.542	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234		A	39125677	G	A	39125677	3	1	22	1	0	0	0	0	1	0	0	0	5021	1058	37	1	570	1	EIF3K	19	39125677	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57036	39125677	20003306	9839	14947										
ACTN4	81	hgsc.bcm.edu	37	chr19	39212226	39212226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacgagacggccacactatCggacatcaaagccctcattc	7	15	2	1	rs140271107		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39212226C>T	ENST00000252699.2	+	12	1416	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.S228L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	447					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCACACTATCGGACATCAAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20965	0.0		0.001	False		,,,				2504	0.0				p.S447L	Colon(168;199 1940 10254 46213 46384)	Atlas-SNP	.											.	ACTN4	69	.	0			c.C1340T						PASS	.						125	101	109					19																	39212226		2203	4300	6503	SO:0001583	missense	81	exon12			CACTATCGGACAT	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1340C>T	19.37:g.39212226C>T	ENSP00000252699:p.Ser447Leu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	90	43	0.477778	NM_004924	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.50	3.636731	0.67130	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.51325	0.71;0.71	4.21	4.21	0.49690	.	0.194257	0.34959	N	0.003557	T	0.54271	0.1848	M	0.65498	2.005	0.80722	D	1	B;B	0.32382	0.091;0.368	B;B	0.40636	0.335;0.154	T	0.61133	-0.7124	10	0.59425	D	0.04	.	15.8417	0.78852	0.0:1.0:0.0:0.0	.	447;447	E7EV83;O43707	.;ACTN4_HUMAN	L	447;447;228	ENSP00000252699:S447L;ENSP00000439497:S228L	ENSP00000252699:S447L	S	+	2	0	ACTN4	43904066	1.000000	0.71417	0.962000	0.40283	0.599000	0.36880	7.651000	0.83577	2.340000	0.79590	0.462000	0.41574	TCG	C|1.000;T|0.000	0.000	strong		0.632	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			T	39212226	C	T	39212226	3	4	22	1	0	0	0	0	1	0	0	0	207	893	31	1	1386	1	ACTN4	19	39212226	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86549	39212226	19916757	9840	14948										
CAPN12	147968	hgsc.bcm.edu	37	chr19	39226163	39226163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagagactgcaggtctgcGctgatcacgtcgtcgatctc	13	11	3	2	rs141009431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39226163G>A	ENST00000328867.4	-	13	1913	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Silent_p.S386S	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	535	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCAGGTCTGCGCTGATCACGT	0.647													G|||	11	0.00219649	0.0083	0.0	5008	,	,		8622	0.0		0.0	False		,,,				2504	0.0				p.S535S		Atlas-SNP	.											.	CAPN12	43	.	0			c.C1605T						PASS	.	G		27,4355	30.8+/-60.4	0,27,2164	38	37	37		1605	3	1	19	dbSNP_134	37	0,8590		0,0,4295	no	coding-synonymous	CAPN12	NM_144691.3		0,27,6459	AA,AG,GG		0.0,0.6162,0.2081		535/720	39226163	27,12945	2191	4295	6486	SO:0001819	synonymous_variant	147968	exon13			GTCTGCGCTGATC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1605C>T	19.37:g.39226163G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_144691		Silent	SNP	ENST00000328867.4	37	CCDS12519.1																																																																																			G|0.998;A|0.002	0.002	strong		0.647	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			A	39226163	G	A	39226163	2	1	22	1	0	0	0	0	0	0	0	1	2625	1078	38	1		1	CAPN12	19	39226163	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13937	39226163	19902820	9841	14949										
CAPN12	147968	hgsc.bcm.edu	37	chr19	39227889	39227889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggacagaaggaccgtgcaCttgggcgtgcggcccccccg	16	14	0	1	rs202082771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39227889C>T	ENST00000328867.4	-	10	1577	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Silent_p.K274K	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	423	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGACCGTGCACTTGGGCGTGC	0.692													C|||	11	0.00219649	0.0083	0.0	5008	,	,		5252	0.0		0.0	False		,,,				2504	0.0				p.K423K		Atlas-SNP	.											.	CAPN12	43	.	0			c.G1269A						PASS	.	C		14,4130		0,14,2058	15	13	14		1269	0.4	1	19		14	0,8264		0,0,4132	yes	coding-synonymous	CAPN12	NM_144691.3		0,14,6190	TT,TC,CC		0.0,0.3378,0.1128		423/720	39227889	14,12394	2072	4132	6204	SO:0001819	synonymous_variant	147968	exon10			CGTGCACTTGGGC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1269G>A	19.37:g.39227889C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	35	20	0.571429	NM_144691		Silent	SNP	ENST00000328867.4	37	CCDS12519.1																																																																																			.	.	weak		0.692	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39227889	C	T	39227889	2	4	22	1	0	0	0	0	0	0	0	1	2625	564	20	2		2	CAPN12	19	39227889	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1726	39227889	19901094	9842	14950										
CAPN12	147968	hgsc.bcm.edu	37	chr19	39234674	39234674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtaagggtcgcggaacagGatccccgaatccaggcaggc	14	11	0	0	rs111831826	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39234674G>A	ENST00000328867.4	-	1	440	c.132C>T	c.(130-132)atC>atT	p.I44I	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCGGAACAGGATCCCCGAAT	0.637													g|||	11	0.00219649	0.0083	0.0	5008	,	,		16631	0.0		0.0	False		,,,				2504	0.0				p.I44I		Atlas-SNP	.											.	CAPN12	43	.	0			c.C132T						PASS	.	G		27,4379	32.6+/-62.9	0,27,2176	82	67	72		132	2.6	1	19	dbSNP_132	72	0,8600		0,0,4300	no	coding-synonymous	CAPN12	NM_144691.3		0,27,6476	AA,AG,GG		0.0,0.6128,0.2076		44/720	39234674	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	147968	exon1			GAACAGGATCCCC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.132C>T	19.37:g.39234674G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_144691		Silent	SNP	ENST00000328867.4	37	CCDS12519.1																																																																																			G|0.998;A|0.002	0.002	strong		0.637	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			A	39234674	G	A	39234674	2	1	22	1	0	0	0	0	0	0	0	1	2625	1164	41	2		2	CAPN12	19	39234674	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6785	39234674	19894309	9843	14951										
CAPN12	147968	hgsc.bcm.edu	37	chr19	39234723	39234723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgcctcatagctctggcccCgaaaaagctgcaggcgcccg	11	15	2	0	rs112433506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39234723C>T	ENST00000328867.4	-	1	391	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	28					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTCTGGCCCCGAAAAAGCTG	0.632													c|||	11	0.00219649	0.0083	0.0	5008	,	,		14500	0.0		0.0	False		,,,				2504	0.0				p.R28Q		Atlas-SNP	.											.	CAPN12	43	.	0			c.G83A						PASS	.	C	GLN/ARG	26,4380	29.9+/-59.1	0,26,2177	61	57	58		83	3.7	0.3	19	dbSNP_132	58	0,8600		0,0,4300	yes	missense	CAPN12	NM_144691.3	43	0,26,6477	TT,TC,CC		0.0,0.5901,0.1999	benign	28/720	39234723	26,12980	2203	4300	6503	SO:0001583	missense	147968	exon1			TGGCCCCGAAAAA	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.83G>A	19.37:g.39234723C>T	ENSP00000331636:p.Arg28Gln	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	63	30	0.47619	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.17	1.858222	0.32791	0.005901	0.0	ENSG00000182472	ENST00000328867	T	0.41065	1.01	4.74	3.7	0.42460	Peptidase C2, calpain, catalytic domain (1);	0.749962	0.11830	N	0.525296	T	0.18087	0.0434	L	0.39898	1.24	0.09310	N	1	P	0.37997	0.614	B	0.27887	0.084	T	0.07616	-1.0763	10	0.13853	T	0.58	.	5.2383	0.15458	0.2025:0.6908:0.0:0.1066	.	28	Q6ZSI9	CAN12_HUMAN	Q	28	ENSP00000331636:R28Q	ENSP00000331636:R28Q	R	-	2	0	CAPN12	43926563	0.001000	0.12720	0.349000	0.25694	0.717000	0.41224	-0.261000	0.08694	1.204000	0.43247	0.457000	0.33378	CGG	C|0.998;T|0.002	0.002	strong		0.632	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39234723	C	T	39234723	3	4	22	1	0	0	0	0	1	0	0	0	2625	652	23	1	2160	1	CAPN12	19	39234723	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49	39234723	19894260	9844	14952										
ECH1	1891	hgsc.bcm.edu	37	chr19	39308190	39308190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgggctgcaggatgtcCgaagccatgtccatcaggtc	12	12	1	0	rs15570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39308190C>T	ENST00000221418.4	-	4	607	c.375G>A	c.(373-375)tcG>tcA	p.S125S	AC104534.2_ENST00000594558.1_RNA|AC104534.3_ENST00000594769.1_Missense_Mutation_p.R295Q	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	125					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCAGGATGTCCGAAGCCATGT	0.562													c|||	903	0.180312	0.2057	0.1225	5008	,	,		19650	0.1012		0.1282	False		,,,				2504	0.3221				p.S125S		Atlas-SNP	.											.	ECH1	14	.	0			c.G375A						PASS	.	C		878,3528	339.4+/-305.8	88,702,1413	77	60	66		375	-10.5	0	19	dbSNP_123	66	1158,7442	237.1+/-269.0	73,1012,3215	no	coding-synonymous	ECH1	NM_001398.2		161,1714,4628	TT,TC,CC		13.4651,19.9274,15.6543		125/329	39308190	2036,10970	2203	4300	6503	SO:0001819	synonymous_variant	1891	exon4			GATGTCCGAAGCC	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.375G>A	19.37:g.39308190C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_001398	A8K745|Q8WVX0|Q96EZ9	Silent	SNP	ENST00000221418.4	37	CCDS33014.1																																																																																			C|0.851;T|0.149	0.149	strong		0.562	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			T	39308190	C	T	39308190	2	4	22	1	0	0	0	0	0	0	0	1	4892	639	23	1		1	ECH1	19	39308190	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	73467	39308190	19820793	9845	14953										
SARS2	54938	hgsc.bcm.edu	37	chr19	39410465	39410465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaggagggctccagccccGcgcaggtaataggaccggtg	16	12	0	0	rs35389151	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39410465G>A	ENST00000221431.6	-	7	855	c.696C>T	c.(694-696)cgC>cgT	p.R232R	SARS2_ENST00000448145.2_Silent_p.R232R|SARS2_ENST00000430193.3_Silent_p.R232R|SARS2_ENST00000598831.1_5'Flank|SARS2_ENST00000594171.1_Silent_p.R42R|SARS2_ENST00000600042.1_Silent_p.R234R|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.R302W	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	232					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCAGCCCCGCGCAGGTAAT	0.652													g|||	4	0.000798722	0.0015	0.0	5008	,	,		15718	0.001		0.0	False		,,,				2504	0.001				p.R234R		Atlas-SNP	.											.	SARS2	33	.	0			c.C702T						PASS	.	G	,	23,4383	28.1+/-56.4	0,23,2180	36	37	37		702,696	-9.3	0.2	19	dbSNP_126	37	5,8595	5.0+/-18.6	0,5,4295	no	coding-synonymous,coding-synonymous	SARS2	NM_001145901.1,NM_017827.3	,	0,28,6475	AA,AG,GG		0.0581,0.522,0.2153	,	234/521,232/519	39410465	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	54938	exon8			AGCCCCGCGCAGG	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.696C>T	19.37:g.39410465G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	153	80	0.522876	NM_001145901	A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	CCDS33017.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	4.214	0.038427	0.08148	0.00522	5.81E-4	ENSG00000104835	ENST00000455102	T	0.30182	1.54	4.63	-9.26	0.00662	.	.	.	.	.	T	0.11410	0.0278	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17319	-1.0373	5	0.18710	T	0.47	.	9.0126	0.36150	0.6017:0.0:0.1514:0.2469	rs35389151	.	.	.	V	211	ENSP00000414954:A211V	ENSP00000414954:A211V	A	-	2	0	FBXO17	44102305	0.000000	0.05858	0.195000	0.23364	0.321000	0.28281	-4.751000	0.00190	-2.795000	0.00354	-4.032000	0.00013	GCG	G|0.997;A|0.003	0.003	strong		0.652	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		A	39410465	G	A	39410465	2	1	22	1	0	0	0	0	0	0	0	1	13845	1074	38	1		1	SARS2	19	39410465	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	102275	39410465	19718518	9846	14954										
SARS2	54938	hgsc.bcm.edu	37	chr19	39416935	39416935	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcagctcctgccatgtCgagatctggggtggatataa	12	10	2	1	rs144229840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39416935C>T	ENST00000221431.6	-	2	432	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SARS2_ENST00000448145.2_Silent_p.S91S|SARS2_ENST00000430193.3_Silent_p.S91S|SARS2_ENST00000600042.1_Silent_p.S91S|SARS2_ENST00000594171.1_5'UTR|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D161N	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	91					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.S91S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCTGCCATGTCGAGATCTGGG	0.612													C|||	38	0.00758786	0.0265	0.0029	5008	,	,		19704	0.0		0.001	False		,,,				2504	0.0				p.S91S		Atlas-SNP	.											SARS2,rectum,carcinoma,0,1	SARS2	33	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A						PASS	.	C	,	75,4331	65.3+/-102.7	1,73,2129	50	42	45		273,273	-8.9	0	19	dbSNP_134	45	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	SARS2	NM_001145901.1,NM_017827.3	,	1,76,6426	TT,TC,CC		0.0349,1.7022,0.5997	,	91/521,91/519	39416935	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	54938	exon2			CCATGTCGAGATC	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.273G>A	19.37:g.39416935C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	26	12	0.461538	NM_001145901	A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	CCDS33017.1																																																																																			C|0.995;T|0.005	0.005	strong		0.612	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		T	39416935	C	T	39416935	2	4	22	1	0	0	0	0	0	0	0	1	13845	871	31	1		1	SARS2	19	39416935	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6470	39416935	19712048	9847	14955										
PAPL	390928	hgsc.bcm.edu	37	chr19	39575987	39575987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtccaggggtccctgggGgctcccagcgctgccccaga	16	15	0	1	rs544041	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39575987G>A	ENST00000331256.5	+	2	352	c.78G>A	c.(76-78)ggG>ggA	p.G26G	PAPL_ENST00000594229.1_Silent_p.G26G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		26						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GGTCCCTGGGGGCTCCCAGCG	0.592													g|||	691	0.137979	0.4962	0.0447	5008	,	,		19220	0.0		0.004	False		,,,				2504	0.0				p.G26G		Atlas-SNP	.											.	.	.	.	0			c.G78A						PASS	.	G		1854,2552	538.2+/-374.9	377,1100,726	124	113	117		78	-0.7	0	19	dbSNP_83	117	29,8571	19.8+/-62.0	0,29,4271	no	coding-synonymous	PAPL	NM_001004318.2		377,1129,4997	AA,AG,GG		0.3372,42.079,14.4779		26/439	39575987	1883,11123	2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			CCTGGGGGCTCCC																												ENST00000331256.5:c.78G>A	19.37:g.39575987G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	122	121	0.991803	NM_001004318	B2RN68	Silent	SNP	ENST00000331256.5	37	CCDS33018.1																																																																																			G|0.870;A|0.130	0.130	strong		0.592	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			A	39575987	G	A	39575987	2	1	22	1	0	0	0	0	0	0	0	1	11427	1219	43	2		2	PAPL	19	39575987	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159052	39575987	19552996	9848	14956										
IL28B	282617	hgsc.bcm.edu	37	chr19	39735535	39735535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagagccccgcggagcctggCgacaggaactgctccagtca	14	14	1	1	rs141536970	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39735535C>A	ENST00000413851.2	-	1	111	c.73G>T	c.(73-75)Gcc>Tcc	p.A25S	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	25					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CGGAGCCTGGCGACAGGAACT	0.617													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		20221	0.0		0.0	False		,,,				2504	0.0				p.A25S		Atlas-SNP	.											.	.	.	.	0			c.G73T						PASS	.	C	SER/ALA	29,4377	34.3+/-65.2	0,29,2174	61	58	59		73	-4.4	0	19	dbSNP_134	59	0,8600		0,0,4300	no	missense	IL28B	NM_172139.2	99	0,29,6474	AA,AC,CC		0.0,0.6582,0.223	benign	25/197	39735535	29,12977	2203	4300	6503	SO:0001583	missense	282617	exon1			GCCTGGCGACAGG	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.73G>T	19.37:g.39735535C>A	ENSP00000409000:p.Ala25Ser	Somatic	321	1	0.00311526		WXS	Illumina HiSeq	Phase_I	322	171	0.531056	NM_172139	A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	CCDS12530.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	8.463	0.855868	0.17106	0.006582	0.0	ENSG00000197110	ENST00000413851	T	0.13657	2.57	3.14	-4.41	0.03590	.	0.976044	0.08385	N	0.953834	T	0.01156	0.0038	N	0.00347	-1.61	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.40757	-0.9546	10	0.30854	T	0.27	-2.8121	1.9017	0.03269	0.1148:0.1693:0.2396:0.4763	.	25	Q8IZI9	IL28B_HUMAN	S	25	ENSP00000409000:A25S	ENSP00000409000:A25S	A	-	1	0	IL28B	44427375	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.104000	0.10923	-0.417000	0.07461	-1.495000	0.00966	GCC	A|0.003;C|0.997	0.003	strong		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		A	39735535	C	A	39735535	3	1	22	1	0	0	0	0	1	0	0	0	7683	768	27	4	536	4	IL28B	19	39735535	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159548	39735535	19393448	9849	14957										
IL29	282618	hgsc.bcm.edu	37	chr19	39789115	39789115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaatatgtggccgatgggAacctgtgtctgagaacgtca	12	8	3	1	rs30461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39789115A>G	ENST00000333625.2	+	5	659	c.562A>G	c.(562-564)Aac>Gac	p.N188D		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	188			N -> D (in dbSNP:rs30461). {ECO:0000269|PubMed:15489334}.		defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										GGCCGATGGGAACCTGTGTCT	0.557													G|||	1260	0.251597	0.711	0.134	5008	,	,		18650	0.0377		0.1123	False		,,,				2504	0.0777				p.N188D		Atlas-SNP	.											.	.	.	.	0			c.A562G						PASS	.	G	ASP/ASN	2730,1676	509.4+/-367.2	868,994,341	167	164	165		562	1.2	0	19	dbSNP_76	165	912,7688	777.9+/-407.7	44,824,3432	yes	missense	IL29	NM_172140.1	23	912,1818,3773	GG,GA,AA		10.6047,38.039,28.0025	benign	188/201	39789115	3642,9364	2203	4300	6503	SO:0001583	missense	282618	exon5			GATGGGAACCTGT	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.562A>G	19.37:g.39789115A>G	ENSP00000329991:p.Asn188Asp	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	170	170	1	NM_172140	A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	37	CCDS12531.1	503	0.2303113553113553	335	0.6808943089430894	57	0.1574585635359116	24	0.04195804195804196	87	0.11477572559366754	G	0.047	-1.261791	0.01445	0.61961	0.106047	ENSG00000182393	ENST00000333625	T	0.08984	3.03	3.56	1.19	0.21007	.	0.790683	0.11368	N	0.571161	T	0.00012	0.0000	N	0.00071	-2.275	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.02654	T	1	-6.121	5.7718	0.18257	0.114:0.3789:0.5071:0.0	rs30461;rs519075;rs16973311;rs52793576;rs57286404;rs30461	188	Q8IU54	IL29_HUMAN	D	188	ENSP00000329991:N188D	ENSP00000329991:N188D	N	+	1	0	IL29	44480955	0.003000	0.15002	0.000000	0.03702	0.013000	0.08279	0.481000	0.22260	-0.017000	0.14103	-0.642000	0.03964	AAC	A|0.733;G|0.267	0.267	strong		0.557	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		G	39789115	A	G	39789115	3	3	22	1	0	0	0	0	1	0	0	0	7685	246	9	2	580	2	IL29	19	39789115	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53580	39789115	19339868	9850	14958										
LRFN1	57622	hgsc.bcm.edu	37	chr19	39805188	39805188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcgcgggtcagccgccgCagccagagcagctcgcagtt	13	16	1	1	rs115860908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39805188C>T	ENST00000248668.4	-	1	788	c.789G>A	c.(787-789)ctG>ctA	p.L263L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	263	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCAGCCGCCGCAGCCAGAGCA	0.682													C|||	131	0.0261581	0.0908	0.0144	5008	,	,		14203	0.0		0.001	False		,,,				2504	0.0				p.L263L		Atlas-SNP	.											.	LRFN1	59	.	0			c.G789A						PASS	.	C		280,4082		10,260,1911	14	19	17		789	0.8	1	19	dbSNP_132	17	7,8559		0,7,4276	no	coding-synonymous	LRFN1	NM_020862.1		10,267,6187	TT,TC,CC		0.0817,6.4191,2.22		263/772	39805188	287,12641	2181	4283	6464	SO:0001819	synonymous_variant	57622	exon1			CCGCCGCAGCCAG	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.789G>A	19.37:g.39805188C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	34	0.666667	NM_020862	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																			C|0.971;T|0.029	0.029	strong		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		T	39805188	C	T	39805188	2	4	22	1	0	0	0	0	0	0	0	1	8937	697	25	2		2	LRFN1	19	39805188	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16073	39805188	19323795	9851	14959										
GMFG	9535	hgsc.bcm.edu	37	chr19	39826131	39826131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatttcctcagcttttctGttagctctgggtctacctcg	9	11	4	0	rs1801733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39826131G>T	ENST00000597595.1	-	2	252	c.44C>A	c.(43-45)aCa>aAa	p.T15K	GMFG_ENST00000601387.1_Intron|GMFG_ENST00000600322.1_5'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.T15K|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000595636.1_Missense_Mutation_p.T15K|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000598034.1_Missense_Mutation_p.T15K	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	15	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGCTTTTCTGTTAGCTCTGG	0.572													G|||	79	0.0157748	0.056	0.0072	5008	,	,		17456	0.0		0.0	False		,,,				2504	0.0				p.T15K		Atlas-SNP	.											.	GMFG	16	.	0			c.C44A						PASS	.	G	LYS/THR	212,4194	127.0+/-164.0	8,196,1999	149	116	127		44	2.1	1	19	dbSNP_89	127	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GMFG	NM_004877.2	78	8,209,6286	TT,TG,GG		0.1512,4.8116,1.73	benign	15/143	39826131	225,12781	2203	4300	6503	SO:0001583	missense	9535	exon2			TTTTCTGTTAGCT	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.44C>A	19.37:g.39826131G>T	ENSP00000472249:p.Thr15Lys	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	179	74	0.413408	NM_004877	Q6IB37	Missense_Mutation	SNP	ENST00000597595.1	37	CCDS12532.1	41	0.018772893772893772	37	0.07520325203252033	4	0.011049723756906077	0	0.0	0	0.0	G	0.825	-0.747109	0.03065	0.048116	0.001512	ENSG00000130755	ENST00000253054	.	.	.	4.18	2.07	0.26955	Actin-binding, cofilin/tropomyosin type (3);	0.077251	0.46442	N	0.000283	T	0.00241	0.0007	N	0.00265	-1.74	0.28216	N	0.926737	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29640	-1.0005	9	0.02654	T	1	-19.027	1.2964	0.02070	0.1769:0.1034:0.1922:0.5276	rs1801733;rs52801314	15;15	O60234;Q6IB37	GMFG_HUMAN;.	K	15	.	ENSP00000253054:T15K	T	-	2	0	GMFG	44517971	0.864000	0.29904	0.990000	0.47175	0.765000	0.43378	0.310000	0.19356	0.188000	0.20168	-1.238000	0.01547	ACA	G|0.980;T|0.020	0.020	strong		0.572	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1			T	39826131	G	T	39826131	3	4	22	1	0	0	0	0	1	0	0	0	6490	1377	48	4	408	4	GMFG	19	39826131	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20943	39826131	19302852	9852	14960										
SAMD4B	55095	hgsc.bcm.edu	37	chr19	39873877	39873877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgggcctgacctggagAtcaatcccactctggagtct	10	13	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39873877A>G	ENST00000314471.6	+	15	3037	c.2002A>G	c.(2002-2004)Atc>Gtc	p.I668V	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.I668V	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	668					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGACCTGGAGATCAATCCCAC	0.577																																					p.I668V		Atlas-SNP	.											SAMD4B,NS,carcinoma,0,2	SAMD4B	48	2	0			c.A2002G						PASS	.						169	131	144					19																	39873877		2203	4300	6503	SO:0001583	missense	55095	exon15			CTGGAGATCAATC		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.2002A>G	19.37:g.39873877A>G	ENSP00000317224:p.Ile668Val	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	160	76	0.475	NM_018028	A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187852	0.78789	.	.	ENSG00000179134	ENST00000314471	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000001	T	0.63379	0.2506	L	0.43152	1.355	0.43846	D	0.996437	P;P	0.43314	0.803;0.803	P;P	0.55824	0.785;0.785	T	0.66559	-0.5893	9	0.87932	D	0	.	11.256	0.49054	1.0:0.0:0.0:0.0	.	668;668	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	V	668	.	ENSP00000317224:I668V	I	+	1	0	SAMD4B	44565717	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.422000	0.90262	1.774000	0.52232	0.240000	0.17902	ATC	.	.	none		0.577	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		G	39873877	A	G	39873877	3	3	22	1	0	0	0	0	1	0	0	0	13822	333	12	2	2044	2	SAMD4B	19	39873877	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	47746	39873877	19255106	9853	14961										
ZFP36	7538	hgsc.bcm.edu	37	chr19	39898521	39898521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggtcacctcccgcctgCctggccgctccaccagccta	10	20	1	0	rs2229272		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39898521C>T	ENST00000248673.3	+	2	221	c.163C>T	c.(163-165)Cct>Tct	p.P55S	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.P61S	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	55			P -> S (in dbSNP:rs2229272).		3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCCGCCTGCCTGGCCGCTC	0.736													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11689	0.0		0.0	False		,,,				2504	0.0				p.P61S	NSCLC(67;1164 1324 12056 21056 30097)	Atlas-SNP	.											.	ZFP36	19	.	0			c.C181T						PASS	.	C	SER/PRO	3,4271		0,3,2134	15	19	18		163	2.8	1	19	dbSNP_98	18	0,8330		0,0,4165	no	missense	ZFP36	NM_003407.2	74	0,3,6299	TT,TC,CC		0.0,0.0702,0.0238	benign	55/327	39898521	3,12601	2137	4165	6302	SO:0001583	missense	7538	exon2			CGCCTGCCTGGCC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.163C>T	19.37:g.39898521C>T	ENSP00000248673:p.Pro55Ser	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	32	18	0.5625	NM_003407	B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.91	1.779652	0.31502	7.02E-4	0.0	ENSG00000128016	ENST00000248673	T	0.18174	2.23	3.91	2.84	0.33178	.	0.070080	0.56097	D	0.000022	T	0.10809	0.0264	N	0.24115	0.695	0.26691	N	0.971344	B	0.20052	0.041	B	0.18871	0.023	T	0.22347	-1.0219	10	0.29301	T	0.29	-3.1484	10.0703	0.42328	0.2111:0.7889:0.0:0.0	rs2229272	55	P26651	TTP_HUMAN	S	55	ENSP00000248673:P55S	ENSP00000248673:P55S	P	+	1	0	ZFP36	44590361	0.842000	0.29525	1.000000	0.80357	0.750000	0.42670	1.235000	0.32671	0.799000	0.34018	0.549000	0.68633	CCT	C|0.998;T|0.002	0.002	strong		0.736	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	39898521	C	T	39898521	3	4	22	1	0	0	0	0	1	0	0	0	17642	739	26	2	169	2	ZFP36	19	39898521	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24644	39898521	19230462	9854	14962										
ZFP36	7538	hgsc.bcm.edu	37	chr19	39898667	39898667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctccaccaccccctcgcgCtacaagactgagctatgtcg	7	18	0	2	rs3746083	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39898667C>T	ENST00000248673.3	+	2	367	c.309C>T	c.(307-309)cgC>cgT	p.R103R	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Silent_p.R109R	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	103					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCCTCGCGCTACAAGACTG	0.687													C|||	180	0.0359425	0.0333	0.0418	5008	,	,		15495	0.0347		0.0477	False		,,,				2504	0.0245				p.R109R	NSCLC(67;1164 1324 12056 21056 30097)	Atlas-SNP	.											.	ZFP36	19	.	0			c.C327T						PASS	.	C		154,4250		2,150,2050	56	63	60		309	-5.3	1	19	dbSNP_107	60	362,8232		10,342,3945	no	coding-synonymous	ZFP36	NM_003407.2		12,492,5995	TT,TC,CC		4.2122,3.4968,3.9698		103/327	39898667	516,12482	2202	4297	6499	SO:0001819	synonymous_variant	7538	exon2			CTCGCGCTACAAG	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.309C>T	19.37:g.39898667C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_003407	B2RA54	Silent	SNP	ENST00000248673.3	37																																																																																				A|0.000;C|0.959;G|0.000;T|0.041	0.041	strong		0.687	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	39898667	C	T	39898667	2	4	22	1	0	0	0	0	0	0	0	1	17642	784	28	2		2	ZFP36	19	39898667	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	146	39898667	19230316	9855	14963										
PLEKHG2	64857	hgsc.bcm.edu	37	chr19	39908215	39908215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaactagggaagcactgggcGgagggcccaggcactggggg	20	9	0	0	rs142309421		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39908215G>A	ENST00000409794.3	+	8	1615	c.765G>A	c.(763-765)gcG>gcA	p.A255A	PLEKHG2_ENST00000425673.1_Silent_p.A255A|PLEKHG2_ENST00000458508.2_Silent_p.A196A|PLEKHG2_ENST00000409797.2_Silent_p.A255A|PLEKHG2_ENST00000378550.1_Silent_p.A255A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCACTGGGCGGAGGGCCCAG	0.572																																					p.A255A		Atlas-SNP	.											.	PLEKHG2	329	.	0			c.G765A						PASS	.	G		4,4402	8.1+/-20.4	0,4,2199	56	50	52		765	-9.4	0	19	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	PLEKHG2	NM_022835.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		255/1387	39908215	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	64857	exon8			CTGGGCGGAGGGC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.765G>A	19.37:g.39908215G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	98	55	0.561224	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	0.870	-0.732282	0.03135	9.08E-4	0.0	ENSG00000090924	ENST00000205135	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.46901	D	0.999249	.	.	.	.	.	.	T	0.52064	-0.8625	4	.	.	.	.	1.5973	0.02666	0.2022:0.2901:0.2917:0.216	.	.	.	.	Q	152	.	.	R	+	2	0	PLEKHG2	44600055	0.000000	0.05858	0.019000	0.16419	0.184000	0.23303	-5.033000	0.00158	-4.337000	0.00055	-2.075000	0.00382	CGG	G|1.000;A|0.000	0.000	weak		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39908215	G	A	39908215	2	1	22	1	0	0	0	0	0	0	0	1	12069	1103	39	1		1	PLEKHG2	19	39908215	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9548	39908215	19220768	9856	14964										
PLEKHG2	64857	hgsc.bcm.edu	37	chr19	39913634	39913634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcctgaaattcccagccGctgtgaaattcccgaaggtt	8	13	0	2	rs10407035	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39913634G>A	ENST00000409794.3	+	18	2790	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R618H|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R588H|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	647			R -> H (in dbSNP:rs10407035). {ECO:0000269|PubMed:15489334}.		apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATTCCCAGCCGCTGTGAAATT	0.522													G|||	1227	0.245008	0.202	0.1974	5008	,	,		19345	0.3909		0.1571	False		,,,				2504	0.2771				p.R647H		Atlas-SNP	.											.	PLEKHG2	329	.	0			c.G1940A						PASS	.	G	HIS/ARG	921,3485	353.6+/-312.2	86,749,1368	89	93	91		1940	-2.8	0	19	dbSNP_119	91	970,7630	210.5+/-251.4	54,862,3384	yes	missense	PLEKHG2	NM_022835.2	29	140,1611,4752	AA,AG,GG		11.2791,20.9033,14.5394	benign	647/1387	39913634	1891,11115	2203	4300	6503	SO:0001583	missense	64857	exon18			CCAGCCGCTGTGA	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1940G>A	19.37:g.39913634G>A	ENSP00000386733:p.Arg647His	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	121	65	0.53719	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	493|493	0.22573260073260074|0.22573260073260074	111|111	0.22560975609756098|0.22560975609756098	63|63	0.17403314917127072|0.17403314917127072	208|208	0.36363636363636365|0.36363636363636365	111|111	0.14643799472295516|0.14643799472295516	G|G	7.223|7.223	0.597725|0.597725	0.13875|0.13875	0.209033|0.209033	0.112791|0.112791	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.68479	.|-0.21;-0.21;-0.33	3.19|3.19	-2.84|-2.84	0.05751|0.05751	.|.	.|0.776000	.|0.10572	.|N	.|0.659076	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	.|P;P;D	.|0.53151	.|0.955;0.925;0.958	.|B;B;B	.|0.41723	.|0.365;0.2;0.27	T|T	0.18524|0.18524	-1.0334|-1.0334	4|9	.|0.41790	.|T	.|0.15	.|.	4.667|4.667	0.12671|0.12671	0.2592:0.0:0.3855:0.3552|0.2592:0.0:0.3855:0.3552	rs10407035;rs17845383;rs17858238;rs57929826;rs10407035|rs10407035;rs17845383;rs17858238;rs57929826;rs10407035	.|618;647;588	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	T|H	515|647;618;588	.|ENSP00000386733:R647H;ENSP00000392906:R618H;ENSP00000408857:R588H	.|ENSP00000386733:R647H	A|R	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605474|44605474	0.000000|0.000000	0.05858|0.05858	0.038000|0.038000	0.18304|0.18304	0.082000|0.082000	0.17680|0.17680	-0.547000|-0.547000	0.06055|0.06055	-0.311000|-0.311000	0.08754|0.08754	-1.250000|-1.250000	0.01514|0.01514	GCT|CGC	G|0.823;A|0.177	0.177	strong		0.522	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39913634	G	A	39913634	3	1	22	1	0	0	0	0	1	0	0	0	12069	1087	38	1	2006	1	PLEKHG2	19	39913634	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5419	39913634	19215349	9857	14965										
PLEKHG2	64857	hgsc.bcm.edu	37	chr19	39915677	39915677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctgggggaggggcccccGcagcctcccggggctcctgg	19	16	0	0	rs34603507		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39915677G>A	ENST00000409794.3	+	19	4754	c.3904G>A	c.(3904-3906)Gca>Aca	p.A1302T	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.A1273T|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1302			A -> T (in dbSNP:rs34603507).		apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGGCCCCCGCAGCCTCCCG	0.721													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11603	0.0		0.0	False		,,,				2504	0.0				p.A1302T		Atlas-SNP	.											.	PLEKHG2	329	.	0			c.G3904A						PASS	.	G	THR/ALA	5,4237		0,5,2116	13	16	15		3904	-7.2	0	19	dbSNP_126	15	0,8448		0,0,4224	no	missense	PLEKHG2	NM_022835.2	58	0,5,6340	AA,AG,GG		0.0,0.1179,0.0394	benign	1302/1387	39915677	5,12685	2121	4224	6345	SO:0001583	missense	64857	exon19			GCCCCCGCAGCCT	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3904G>A	19.37:g.39915677G>A	ENSP00000386733:p.Ala1302Thr	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	26	17	0.653846	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500290	0.26861	0.001179	0.0	ENSG00000090924	ENST00000409794;ENST00000425673	T;T	0.67171	-0.24;-0.25	4.35	-7.16	0.01516	.	1.186420	0.06463	N	0.729685	T	0.34513	0.0900	N	0.05383	-0.06	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.13602	-1.0503	9	.	.	.	.	2.4588	0.04536	0.1357:0.2896:0.4002:0.1745	rs34603507	1273;1302	Q9H7P9-3;Q9H7P9	.;PKHG2_HUMAN	T	1302;1273	ENSP00000386733:A1302T;ENSP00000392906:A1273T	.	A	+	1	0	PLEKHG2	44607517	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-0.923000	0.04000	-1.368000	0.02149	-1.305000	0.01319	GCA	G|0.970;A|0.030	0.030	strong		0.721	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39915677	G	A	39915677	3	1	22	1	0	0	0	0	1	0	0	0	12069	1087	38	1	3974	1	PLEKHG2	19	39915677	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2043	39915677	19213306	9858	14966										
RPS16	6217	hgsc.bcm.edu	37	chr19	39923952	39923952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcgagcgcgggcaccaggGcctccaaactttttggactc	12	13	0	0	rs17627	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:39923952G>A	ENST00000251453.3	-	5	454	c.402C>T	c.(400-402)ggC>ggT	p.G134G	RPS16_ENST00000339471.4_3'UTR|RPS16_ENST00000601655.1_Silent_p.G117G|RPS16_ENST00000599539.1_3'UTR	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	134					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCACCAGGGCCTCCAAACT	0.488													G|||	1206	0.240815	0.4501	0.1801	5008	,	,		18656	0.0764		0.1839	False		,,,				2504	0.229				p.G134G		Atlas-SNP	.											.	RPS16	12	.	0			c.C402T						PASS	.	G		1752,2654	513.4+/-368.3	341,1070,792	60	63	62		402	-4.5	0.9	19	dbSNP_63	62	1605,6995	294.8+/-302.1	160,1285,2855	no	coding-synonymous	RPS16	NM_001020.4		501,2355,3647	AA,AG,GG		18.6628,39.764,25.8112		134/147	39923952	3357,9649	2203	4300	6503	SO:0001819	synonymous_variant	6217	exon5			ACCAGGGCCTCCA	M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"S ribosomal proteins"	10396	protein-coding gene	gene with protein product	"40S ribosomal protein S16"	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.402C>T	19.37:g.39923952G>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	162	76	0.469136	NM_001020	B2RDD5|P17008	Silent	SNP	ENST00000251453.3	37	CCDS12535.1																																																																																			G|0.758;A|0.242	0.242	strong		0.488	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464511.1	NM_001020		A	39923952	G	A	39923952	2	1	22	1	0	0	0	0	0	0	0	1	13627	1190	42	2		2	RPS16	19	39923952	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8275	39923952	19205031	9859	14967										
FBL	2091	hgsc.bcm.edu	37	chr19	40329747	40329747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtagagaaccttagccccCggtttgatgtggatctggtc	13	9	1	2	rs150137200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40329747C>T	ENST00000221801.3	-	5	590	c.477G>A	c.(475-477)ccG>ccA	p.P159P	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	159					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCTTAGCCCCCGGTTTGATGT	0.577													C|||	12	0.00239617	0.0076	0.0	5008	,	,		20414	0.0		0.0	False		,,,				2504	0.002				p.P159P		Atlas-SNP	.											.	FBL	37	.	0			c.G477A						PASS	.	C		35,4371	40.0+/-72.8	0,35,2168	143	128	133		477	-9.6	0.9	19	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	FBL	NM_001436.3		0,35,6468	TT,TC,CC		0.0,0.7944,0.2691		159/322	40329747	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	2091	exon5			AGCCCCCGGTTTG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.477G>A	19.37:g.40329747C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	183	81	0.442623	NM_001436	B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	CCDS12545.1																																																																																			C|0.996;T|0.004	0.004	strong		0.577	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		T	40329747	C	T	40329747	2	4	22	1	0	0	0	0	0	0	0	1	5696	639	23	1		1	FBL	19	40329747	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	405795	40329747	18799236	9860	14968										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40360928	40360928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaccctgggaaagcaggaaGcggtcgtcgcactcacagcc	12	14	1	0	rs1053686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40360928G>A	ENST00000221347.6	-	33	15487	c.15480C>T	c.(15478-15480)cgC>cgT	p.R5160R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5160	Cys-rich.|TIL 12.					extracellular vesicular exosome (GO:0070062)		p.R5160R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAAGCAGGAAGCGGTCGTCGC	0.622													G|||	590	0.117812	0.1271	0.1988	5008	,	,		16856	0.0387		0.1431	False		,,,				2504	0.1033				p.R5160R		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - coding silent(1)	stomach(1)	c.C15480T						PASS	.	G		689,3717	290.1+/-280.8	58,573,1572	68	65	66		15480	1.4	1	19	dbSNP_86	66	1357,7243	265.3+/-286.1	110,1137,3053	no	coding-synonymous	FCGBP	NM_003890.2		168,1710,4625	AA,AG,GG		15.7791,15.6378,15.7312		5160/5406	40360928	2046,10960	2203	4300	6503	SO:0001819	synonymous_variant	8857	exon33			CAGGAAGCGGTCG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15480C>T	19.37:g.40360928G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	136	55	0.404412	NM_003890	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			G|0.865;N|0.000	.	strong		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40360928	G	A	40360928	2	1	22	1	0	0	0	0	0	0	0	1	5778	958	34	2		2	FCGBP	19	40360928	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31181	40360928	18768055	9861	14969										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40363926	40363926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccaggaggcgttggagatCtccagctgcattcttctcaa	10	11	3	1	rs3746013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40363926C>G	ENST00000221347.6	-	31	14723	c.14716G>C	c.(14716-14718)Gat>Cat	p.D4906H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4906	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.		D -> H (in dbSNP:rs3746013). {ECO:0000269|PubMed:9182547}.			extracellular vesicular exosome (GO:0070062)		p.D4906H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTTGGAGATCTCCAGCTGCA	0.597													C|||	1444	0.288339	0.23	0.1614	5008	,	,		21074	0.5387		0.1998	False		,,,				2504	0.2904				p.D4906H		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	stomach(1)	c.G14716C						PASS	.	C	HIS/ASP	1012,3394	376.8+/-322.2	113,786,1304	95	77	83		14716	-1	0	19	dbSNP_107	83	1829,6771	327.7+/-318.0	189,1451,2660	yes	missense	FCGBP	NM_003890.2	81	302,2237,3964	GG,GC,CC		21.2674,22.9687,21.8438	probably-damaging	4906/5406	40363926	2841,10165	2203	4300	6503	SO:0001583	missense	8857	exon31			GGAGATCTCCAGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14716G>C	19.37:g.40363926C>G	ENSP00000221347:p.Asp4906His	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	146	52	0.356164	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	648	0.2967032967032967	109	0.22154471544715448	63	0.17403314917127072	321	0.5611888111888111	155	0.20448548812664907	C	9.033	0.987678	0.18966	0.229687	0.212674	ENSG00000090920	ENST00000221347	T	0.59502	0.26	5.34	-1.04	0.10068	von Willebrand factor, type D domain (3);	0.249576	0.34046	U	0.004304	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	D	0.69078	0.997	D	0.74674	0.984	T	0.45571	-0.9252	9	0.14656	T	0.56	.	6.206	0.20604	0.0:0.5518:0.2287:0.2194	rs3746013;rs61020961;rs3746013	4906	Q9Y6R7	FCGBP_HUMAN	H	4906	ENSP00000221347:D4906H	ENSP00000221347:D4906H	D	-	1	0	FCGBP	45055766	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.392000	0.20801	-0.030000	0.13804	0.313000	0.20887	GAT	C|0.746;G|0.254	0.254	strong		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40363926	C	G	40363926	3	3	22	1	0	0	0	0	1	0	0	0	5778	913	32	4	1525	4	FCGBP	19	40363926	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2998	40363926	18765057	9862	14970										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40364011	40364011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccaagacataggagcaGgagccatgcaggtcgtagac	15	9	0	2	rs78835791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40364011G>A	ENST00000221347.6	-	31	14638	c.14631C>T	c.(14629-14631)tcC>tcT	p.S4877S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4877	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATAGGAGCAGGAGCCATGCA	0.602													G|||	61	0.0121805	0.0439	0.0029	5008	,	,		20928	0.0		0.001	False		,,,				2504	0.0				p.S4877S		Atlas-SNP	.											.	FCGBP	416	.	0			c.C14631T						PASS	.	G		151,4255	103.8+/-142.4	1,149,2053	94	82	86		14631	4	1	19	dbSNP_131	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		1,150,6352	AA,AG,GG		0.0116,3.4271,1.1687		4877/5406	40364011	152,12854	2203	4300	6503	SO:0001819	synonymous_variant	8857	exon31			GGAGCAGGAGCCA	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14631C>T	19.37:g.40364011G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	146	65	0.445205	NM_003890	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			G|0.988;A|0.012	0.012	strong		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40364011	G	A	40364011	2	1	22	1	0	0	0	0	0	0	0	1	5778	987	35	2		2	FCGBP	19	40364011	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	85	40364011	18764972	9863	14971										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40364397	40364397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcacagggcaggagtcacCgcagagctcatagtggctgt	14	11	3	1	rs148917660		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40364397C>T	ENST00000221347.6	-	31	14252	c.14245G>A	c.(14245-14247)Ggt>Agt	p.G4749S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4749	TIL 11.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGAGTCACCGCAGAGCTCA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14509	0.0		0.0	False		,,,				2504	0.0				p.G4749S		Atlas-SNP	.											.	FCGBP	416	.	0			c.G14245A						PASS	.	C	SER/GLY	28,4376		0,28,2174	36	35	35		14245	4.1	0	19	dbSNP_134	35	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	56	0,28,6474	TT,TC,CC		0.0,0.6358,0.2153	probably-damaging	4749/5406	40364397	28,12976	2202	4300	6502	SO:0001583	missense	8857	exon31			AGTCACCGCAGAG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14245G>A	19.37:g.40364397C>T	ENSP00000221347:p.Gly4749Ser	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577576	0.28180	0.006358	0.0	ENSG00000090920	ENST00000221347	T	0.77750	-1.12	5.14	4.1	0.47936	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.072904	0.53938	U	0.000047	T	0.59932	0.2230	M	0.66439	2.03	0.09310	N	1	P	0.40731	0.728	B	0.30495	0.116	T	0.58645	-0.7600	10	0.06891	T	0.86	.	12.6598	0.56808	0.0:0.9183:0.0:0.0817	.	4749	Q9Y6R7	FCGBP_HUMAN	S	4749	ENSP00000221347:G4749S	ENSP00000221347:G4749S	G	-	1	0	FCGBP	45056237	0.096000	0.21769	0.026000	0.17262	0.357000	0.29423	2.708000	0.47152	1.312000	0.45043	0.313000	0.20887	GGT	C|0.997;T|0.003	0.003	strong		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40364397	C	T	40364397	3	4	22	1	0	0	0	0	1	0	0	0	5778	652	23	1	1996	1	FCGBP	19	40364397	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	386	40364397	18764586	9864	14972										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40368330	40368330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacctgtgcccgccagtcttCgatgacaaccccagcggcct	9	17	1	1	rs74540349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40368330C>T	ENST00000221347.6	-	28	13025	c.13018G>A	c.(13018-13020)Gaa>Aaa	p.E4340K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4340						extracellular vesicular exosome (GO:0070062)		p.E4340K(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCAGTCTTCGATGACAACC	0.642																																					p.E4340K		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	stomach(1)	c.G13018A						PASS	.						130	140	136					19																	40368330		2203	4300	6503	SO:0001583	missense	8857	exon28			AGTCTTCGATGAC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13018G>A	19.37:g.40368330C>T	ENSP00000221347:p.Glu4340Lys	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	140	40	0.285714	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	478	0.21886446886446886	101	0.20528455284552846	56	0.15469613259668508	196	0.34265734265734266	125	0.16490765171503957	C	6.598	0.478746	0.12521	.	.	ENSG00000090920	ENST00000221347	D	0.85955	-2.05	4.08	-8.16	0.01061	Uncharacterised domain, cysteine-rich (2);	1.549620	0.03830	N	0.268942	T	0.00012	0.0000	N	0.03084	-0.415	0.80722	P	0.0	B	0.12013	0.005	B	0.04013	0.001	T	0.03259	-1.1055	9	0.12766	T	0.61	.	2.0488	0.03566	0.1461:0.4649:0.1867:0.2022	.	4340	Q9Y6R7	FCGBP_HUMAN	K	4340	ENSP00000221347:E4340K	ENSP00000221347:E4340K	E	-	1	0	FCGBP	45060170	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-7.283000	0.00040	-1.584000	0.01636	0.305000	0.20034	GAA	C|0.827;T|0.173	0.173	strong		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368330	C	T	40368330	3	4	22	1	0	0	0	0	1	0	0	0	5778	893	31	1	3235	1	FCGBP	19	40368330	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3933	40368330	18760653	9865	14973										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40368520	40368520	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggggtccgcagaagccaggGccctcgtactgctccaaccg	13	15	0	1	rs36079378	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40368520G>C	ENST00000221347.6	-	28	12835	c.12828C>G	c.(12826-12828)ggC>ggG	p.G4276G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4276	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.G4276G(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGAAGCCAGGGCCCTCGTACT	0.652													G|||	2378	0.47484	0.5643	0.3026	5008	,	,		15152	0.5853		0.3698	False		,,,				2504	0.4703				p.G4276G		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - coding silent(1)	stomach(1)	c.C12828G						scavenged	.						49	51	51					19																	40368520		2203	4295	6498	SO:0001819	synonymous_variant	8857	exon28			GCCAGGGCCCTCG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12828C>G	19.37:g.40368520G>C		Somatic	167	2	0.011976		WXS	Illumina HiSeq	Phase_I	185	130	0.702703	NM_003890	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			G|0.500;C|0.500	0.500	strong		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40368520	G	C	40368520	2	2	22	1	0	0	0	0	0	0	0	1	5778	1190	42	4		4	FCGBP	19	40368520	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	190	40368520	18760463	9866	14974										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40373950	40373950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccagcccagcacctttgGtgacgcagctcaggatgcct	11	15	1	1	rs200958848	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40373950G>T	ENST00000221347.6	-	26	12135	c.12128C>A	c.(12127-12129)aCc>aAc	p.T4043N	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4043	Cys-rich.			T -> N (in Ref. 1; BAA19526). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.T4043N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			agcACCTTTGGTGACGCAGCT	0.637													g|||	355	0.0708866	0.0242	0.0159	5008	,	,		20309	0.244		0.0239	False		,,,				2504	0.0429				p.T4043N		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	lung(1)	c.C12128A						scavenged	.						41	42	41					19																	40373950		2124	4117	6241	SO:0001583	missense	8857	exon26			CCTTTGGTGACGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12128C>A	19.37:g.40373950G>T	ENSP00000221347:p.Thr4043Asn	Somatic	808	1	0.00123762		WXS	Illumina HiSeq	Phase_I	223	39	0.174888	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	0.780	-0.762570	0.02996	.	.	ENSG00000090920	ENST00000221347	T	0.19532	2.14	2.82	-4.06	0.03986	von Willebrand factor, type C (1);	.	.	.	.	T	0.12433	0.0302	L	0.31664	0.95	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.41680	-0.9495	8	0.16896	T	0.51	.	10.7073	0.45962	0.0:0.0:0.3532:0.6468	.	4043	Q9Y6R7	FCGBP_HUMAN	N	4043	ENSP00000221347:T4043N	ENSP00000221347:T4043N	T	-	2	0	FCGBP	45065790	0.051000	0.20477	0.021000	0.16686	0.010000	0.07245	-0.835000	0.04386	-0.764000	0.04651	-0.677000	0.03784	ACC	G|0.750;T|0.250	0.250	weak		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40373950	G	T	40373950	3	4	22	1	0	0	0	0	1	0	0	0	5778	1261	44	4	4133	4	FCGBP	19	40373950	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5430	40373950	18755033	9867	14975										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40384035	40384035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcacttaacacgaaacccGcgtcgcactggcagccctcc	8	18	0	0	rs367618328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40384035G>A	ENST00000221347.6	-	21	9582	c.9575C>T	c.(9574-9576)gCg>gTg	p.A3192V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3192	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGAAACCCGCGTCGCACTG	0.662													G|||	65	0.0129792	0.0446	0.0058	5008	,	,		24198	0.001		0.001	False		,,,				2504	0.0				p.A3192V		Atlas-SNP	.											FCGBP,NS,haematopoietic_neoplasm,-1,1	FCGBP	416	1	0			c.C9575T						scavenged	.	G	VAL/ALA	47,2527		0,47,1240	4	4	4		9575	-4.6	0	19		4	1,5829		0,1,2914	no	missense	FCGBP	NM_003890.2	64	0,48,4154	AA,AG,GG		0.0172,1.826,0.5712	possibly-damaging	3192/5406	40384035	48,8356	1287	2915	4202	SO:0001583	missense	8857	exon21			AAACCCGCGTCGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9575C>T	19.37:g.40384035G>A	ENSP00000221347:p.Ala3192Val	Somatic	585	1	0.0017094		WXS	Illumina HiSeq	Phase_I	639	130	0.203443	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	7.646	0.681900	0.14907	0.01826	1.72E-4	ENSG00000090920	ENST00000221347	T	0.30981	1.51	3.48	-4.63	0.03359	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.18676	0.0448	L	0.49350	1.555	0.09310	N	1	D	0.56287	0.975	P	0.54372	0.75	T	0.25082	-1.0142	9	0.33141	T	0.24	.	7.6572	0.28381	0.0999:0.0:0.2726:0.6275	.	3192	Q9Y6R7	FCGBP_HUMAN	V	3192	ENSP00000221347:A3192V	ENSP00000221347:A3192V	A	-	2	0	FCGBP	45075875	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.286000	0.08399	-0.448000	0.07128	-0.513000	0.04457	GCG	.	.	weak		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40384035	G	A	40384035	3	1	22	1	0	0	0	0	1	0	0	0	5778	1087	38	1	6706	1	FCGBP	19	40384035	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10085	40384035	18744948	9868	14976										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40399508	40399508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgctgacgggctggcagcCgtgctggccggatggcagga	19	10	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40399508C>T	ENST00000221347.6	-	13	6194	c.6187G>A	c.(6187-6189)Ggc>Agc	p.G2063S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2063						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGCAGCCGTGCTGGCCG	0.657																																					p.G2063S		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	0			c.G6187A						scavenged	.						1	1	1					19																	40399508		183	426	609	SO:0001583	missense	8857	exon13			GGCAGCCGTGCTG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6187G>A	19.37:g.40399508C>T	ENSP00000221347:p.Gly2063Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	138	28	0.202899	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485186	0.44147	.	.	ENSG00000090920	ENST00000221347	T	0.05025	3.51	3.01	3.01	0.34805	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.20170	0.0485	M	0.77103	2.36	0.31064	N	0.713759	D	0.76494	0.999	D	0.66196	0.942	T	0.07868	-1.0750	9	0.14656	T	0.56	.	12.9123	0.58187	0.0:1.0:0.0:0.0	.	2063	Q9Y6R7	FCGBP_HUMAN	S	2063	ENSP00000221347:G2063S	ENSP00000221347:G2063S	G	-	1	0	FCGBP	45091348	0.935000	0.31712	0.871000	0.34182	0.831000	0.47069	-0.229000	0.09098	1.536000	0.49237	0.298000	0.19748	GGC	.	.	weak		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40399508	C	T	40399508	3	4	22	1	0	0	0	0	1	0	0	0	5778	652	23	1	10126	1	FCGBP	19	40399508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15473	40399508	18729475	9869	14977										
ZNF780A	284323	hgsc.bcm.edu	37	chr19	40580426	40580426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccacattccttacattcaAgatgccttctcacctgtgtg	5	13	2	1	rs399405	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40580426A>G	ENST00000595687.2	-	6	2132	c.1923T>C	c.(1921-1923)tcT>tcC	p.S641S	ZNF780A_ENST00000340963.5_Silent_p.S641S|ZNF780A_ENST00000594395.1_Silent_p.S642S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.S642S|ZNF780A_ENST00000450241.2_Silent_p.S607S|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTACATTCAAGATGCCTTCT	0.418													a|||	547	0.109225	0.3449	0.0403	5008	,	,		22537	0.0069		0.0109	False		,,,				2504	0.046				p.S642S		Atlas-SNP	.											.	ZNF780A	156	.	0			c.T1926C						PASS	.	A	,,,	1370,3036	454.7+/-350.8	220,930,1053	153	148	150		1923,1926,1923,	-2.3	0	19	dbSNP_80	150	68,8532	41.7+/-99.0	1,66,4233	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZNF780A	NM_001010880.2,NM_001142577.1,NM_001142578.1,NM_001142579.1	,,,	221,996,5286	GG,GA,AA		0.7907,31.094,11.0564	,,,	641/642,642/643,641/642,	40580426	1438,11568	2203	4300	6503	SO:0001819	synonymous_variant	284323	exon6			CATTCAAGATGCC	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1923T>C	19.37:g.40580426A>G		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	268	268	1	NM_001142577	E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	CCDS33026.2																																																																																			A|0.899;G|0.101	0.101	strong		0.418	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		G	40580426	A	G	40580426	2	3	22	1	0	0	0	0	0	0	0	1	18149	59	3	3		3	ZNF780A	19	40580426	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	180918	40580426	18548557	9870	14978										
ZNF780A	284323	hgsc.bcm.edu	37	chr19	40581677	40581677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaaaggcctttccacattcGttacattcaaaaggtttctc	5	11	2	0	rs337795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40581677G>A	ENST00000595687.2	-	6	881	c.672C>T	c.(670-672)aaC>aaT	p.N224N	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.N224N|ZNF780A_ENST00000594395.1_Silent_p.N225N|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.N225N|ZNF780A_ENST00000450241.2_Silent_p.N190N	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCCACATTCGTTACATTCAA	0.398													G|||	385	0.076877	0.2761	0.0274	5008	,	,		22376	0.0		0.001	False		,,,				2504	0.0				p.N225N		Atlas-SNP	.											.	ZNF780A	156	.	0			c.C675T						PASS	.	G	,,,	1084,3322	393.5+/-328.9	143,798,1262	92	92	92		672,675,672,	-3.5	0.8	19	dbSNP_79	92	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZNF780A	NM_001010880.2,NM_001142577.1,NM_001142578.1,NM_001142579.1	,,,	143,809,5551	AA,AG,GG		0.1279,24.6028,8.4192	,,,	224/642,225/643,224/642,	40581677	1095,11911	2203	4300	6503	SO:0001819	synonymous_variant	284323	exon6			ACATTCGTTACAT	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.672C>T	19.37:g.40581677G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001142577	E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	CCDS33026.2																																																																																			G|0.928;A|0.072	0.072	strong		0.398	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		A	40581677	G	A	40581677	2	1	22	1	0	0	0	0	0	0	0	1	18149	1136	40	1		1	ZNF780A	19	40581677	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1251	40581677	18547306	9871	14979										
PLD3	23646	hgsc.bcm.edu	37	chr19	40882588	40882588	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaaggtgcgcctgctcatCagctgctggggacactcgga	14	12	3	0	rs57187324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40882588C>T	ENST00000409587.1	+	11	1489	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	PLD3_ENST00000409735.4_Silent_p.I364I|PLD3_ENST00000356508.5_Silent_p.I364I|PLD3_ENST00000409281.1_Silent_p.I364I|PLD3_ENST00000409419.1_Silent_p.I364I			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	364					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCTGCTCATCAGCTGCTGGG	0.632													c|||	39	0.00778754	0.0295	0.0	5008	,	,		16027	0.0		0.0	False		,,,				2504	0.0				p.I364I		Atlas-SNP	.											.	PLD3	71	.	0			c.C1092T						PASS	.		,	124,4282	92.0+/-130.7	2,120,2081	79	72	74		1092,1092	3.2	1	19	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLD3	NM_001031696.2,NM_012268.2	,	2,120,6381	TT,TC,CC		0.0,2.8143,0.9534	,	364/491,364/491	40882588	124,12882	2203	4300	6503	SO:0001819	synonymous_variant	23646	exon11			GCTCATCAGCTGC	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1092C>T	19.37:g.40882588C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	49	23	0.469388	NM_012268	Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	CCDS33027.1																																																																																			C|0.990;T|0.010	0.010	strong		0.632	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		T	40882588	C	T	40882588	2	4	22	1	0	0	0	0	0	0	0	1	12047	816	29	2		2	PLD3	19	40882588	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	300911	40882588	18246395	9872	14980										
HIPK4	147746	hgsc.bcm.edu	37	chr19	40895493	40895493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggcgggcggggaggggcGcgaagttgttctccttctgg	20	8	2	0	rs79236726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:40895493G>A	ENST00000291823.2	-	1	601	c.317C>T	c.(316-318)gCg>gTg	p.A106V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs34434715). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGGGAGGGGCGCGAAGTTGTT	0.577													G|||	32	0.00638978	0.0242	0.0	5008	,	,		9839	0.0		0.0	False		,,,				2504	0.0				p.A106V		Atlas-SNP	.											HIPK4_ENST00000291823,colon,carcinoma,+1,2	HIPK4	100	2	0			c.C317T						scavenged	.	G	VAL/ALA	104,4302	82.4+/-120.9	2,100,2101	58	62	61		317	2.9	0.7	19	dbSNP_131	61	0,8600		0,0,4300	yes	missense	HIPK4	NM_144685.3	64	2,100,6401	AA,AG,GG		0.0,2.3604,0.7996	possibly-damaging	106/617	40895493	104,12902	2203	4300	6503	SO:0001583	missense	147746	exon1			AGGGGCGCGAAGT	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.317C>T	19.37:g.40895493G>A	ENSP00000291823:p.Ala106Val	Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_144685	A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	CCDS12555.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	14.62	2.590686	0.46214	0.023604	0.0	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.63255	-0.03	5.08	2.91	0.33838	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	0.51477	D	0.000083	T	0.27241	0.0668	N	0.04787	-0.16	0.34206	D	0.67376	P	0.50528	0.936	P	0.46419	0.516	T	0.54357	-0.8306	10	0.52906	T	0.07	.	9.804	0.40781	0.0:0.2864:0.5655:0.1481	.	106	Q8NE63	HIPK4_HUMAN	V	106;71	ENSP00000291823:A106V	ENSP00000291823:A106V	A	-	2	0	HIPK4	45587333	0.003000	0.15002	0.726000	0.30738	0.995000	0.86356	1.122000	0.31295	0.708000	0.31955	0.462000	0.41574	GCG	G|0.992;A|0.008	0.008	strong		0.577	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		A	40895493	G	A	40895493	3	1	22	1	0	0	0	0	1	0	0	0	7119	1087	38	1	1549	1	HIPK4	19	40895493	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12905	40895493	18233490	9873	14981										
NUMBL	9253	hgsc.bcm.edu	37	chr19	41190455	41190455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaacttgttcatggtgcccGccccgtctggtgacacagga	12	12	2	1	rs143941883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41190455G>T	ENST00000252891.4	-	3	283	c.116C>A	c.(115-117)gCg>gAg	p.A39E	NUMBL_ENST00000540131.1_5'UTR|NUMBL_ENST00000598779.1_5'UTR|NUMBL_ENST00000599594.1_5'UTR	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	39					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CATGGTGCCCGCCCCGTCTGG	0.662													G|||	74	0.0147764	0.053	0.0058	5008	,	,		12097	0.0		0.0	False		,,,				2504	0.0				p.A39E		Atlas-SNP	.											.	NUMBL	49	.	0			c.C116A						PASS	.	G	GLU/ALA	198,4208	112.9+/-151.0	5,188,2010	20	20	20		116	4.1	1	19	dbSNP_134	20	0,8600		0,0,4300	yes	missense	NUMBL	NM_004756.3	107	5,188,6310	TT,TG,GG		0.0,4.4939,1.5224	benign	39/610	41190455	198,12808	2203	4300	6503	SO:0001583	missense	9253	exon3			GTGCCCGCCCCGT	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.116C>A	19.37:g.41190455G>T	ENSP00000252891:p.Ala39Glu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	147	58	0.394558	NM_004756	Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	CCDS12561.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	G	20.8	4.045316	0.75846	0.044939	0.0	ENSG00000105245	ENST00000252891	T	0.56776	0.44	5.17	4.14	0.48551	.	0.189579	0.32287	N	0.006318	T	0.08935	0.0221	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.04440	-1.0951	10	0.66056	D	0.02	-15.7799	11.0624	0.47955	0.0867:0.0:0.9133:0.0	.	39;39	A8K033;Q9Y6R0	.;NUMBL_HUMAN	E	39	ENSP00000252891:A39E	ENSP00000252891:A39E	A	-	2	0	NUMBL	45882295	0.627000	0.27129	0.999000	0.59377	0.995000	0.86356	1.270000	0.33086	1.423000	0.47198	0.591000	0.81541	GCG	G|0.987;T|0.013	0.013	strong		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41190455	G	T	41190455	3	4	22	1	0	0	0	0	1	0	0	0	10752	1087	38	4	1745	4	NUMBL	19	41190455	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	294962	41190455	17938528	9874	14982										
ADCK4	79934	hgsc.bcm.edu	37	chr19	41198210	41198210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcccccgacccaaagtcAtaagggccctgggtggcgaa	12	13	1	0	rs17851001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41198210A>G	ENST00000324464.3	-	15	1666	c.1365T>C	c.(1363-1365)taT>taC	p.Y455Y	ADCK4_ENST00000243583.6_Silent_p.Y414Y|NUMBL_ENST00000540131.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000450541.1_Silent_p.Y414Y|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000252891.4_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	455						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			ACCCAAAGTCATAAGGGCCCT	0.672													A|||	68	0.0135783	0.0484	0.0058	5008	,	,		15061	0.0		0.0	False		,,,				2504	0.0				p.Y455Y		Atlas-SNP	.											.	ADCK4	92	.	0			c.T1365C						PASS	.	A	,	195,4211	116.3+/-154.2	5,185,2013	27	27	27		1242,1365	-10.1	0.4	19	dbSNP_123	27	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	5,185,6312	GG,GA,AA		0.0,4.4258,1.4995	,	414/504,455/545	41198210	195,12809	2203	4299	6502	SO:0001819	synonymous_variant	79934	exon15			AAAGTCATAAGGG	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1365T>C	19.37:g.41198210A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	94	38	0.404255	NM_024876	Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	CCDS12562.1																																																																																			A|0.986;G|0.014	0.014	strong		0.672	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		G	41198210	A	G	41198210	2	3	22	1	0	0	0	0	0	0	0	1	290	224	8	2		2	ADCK4	19	41198210	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7755	41198210	17930773	9875	14983										
ITPKC	80271	hgsc.bcm.edu	37	chr19	41223387	41223387	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcaaaagacggagccagAcaggtccagcctccggacgc	12	14	0	2	rs145275994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41223387A>T	ENST00000263370.2	+	1	380	c.347A>T	c.(346-348)gAc>gTc	p.D116V	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	116					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACGGAGCCAGACAGGTCCAGC	0.602													A|||	17	0.00339457	0.0121	0.0014	5008	,	,		13975	0.0		0.0	False		,,,				2504	0.0				p.D116V		Atlas-SNP	.											.	ITPKC	36	.	0			c.A347T						PASS	.	A	VAL/ASP	41,4363	43.1+/-76.7	0,41,2161	52	59	57		347	1.9	0	19	dbSNP_134	57	0,8600		0,0,4300	yes	missense	ITPKC	NM_025194.2	152	0,41,6461	TT,TA,AA		0.0,0.931,0.3153	benign	116/684	41223387	41,12963	2202	4300	6502	SO:0001583	missense	80271	exon1			AGCCAGACAGGTC	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.347A>T	19.37:g.41223387A>T	ENSP00000263370:p.Asp116Val	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	95	44	0.463158	NM_025194	Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	CCDS12563.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	A	2.482	-0.319454	0.05386	0.00931	0.0	ENSG00000086544	ENST00000263370	.	.	.	4.07	1.93	0.25924	.	0.659632	0.13336	N	0.395559	T	0.17789	0.0427	N	0.19112	0.55	0.19775	N	0.999958	B	0.17667	0.023	B	0.15870	0.014	T	0.17107	-1.0380	9	0.27785	T	0.31	-3.0482	6.4104	0.21688	0.7762:0.0:0.2238:0.0	.	116	Q96DU7	IP3KC_HUMAN	V	116	.	ENSP00000263370:D116V	D	+	2	0	ITPKC	45915227	0.122000	0.22280	0.001000	0.08648	0.323000	0.28346	0.708000	0.25719	0.248000	0.21435	0.397000	0.26171	GAC	A|0.997;T|0.003	0.003	strong		0.602	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		T	41223387	A	T	41223387	3	4	22	1	0	0	0	0	1	0	0	0	7919	275	10	5	349	5	ITPKC	19	41223387	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25177	41223387	17905596	9876	14984										
ITPKC	80271	hgsc.bcm.edu	37	chr19	41235120	41235120	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttagggaacttccaggcAggagaggatggtcggattct	14	8	1	1	rs10420685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41235120A>G	ENST00000263370.2	+	3	1302	c.1269A>G	c.(1267-1269)gcA>gcG	p.A423A		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	423					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTTCCAGGCAGGAGAGGATG	0.537													A|||	636	0.126997	0.2088	0.0533	5008	,	,		14672	0.2252		0.0477	False		,,,				2504	0.0491				p.A423A		Atlas-SNP	.											.	ITPKC	36	.	0			c.A1269G						PASS	.	A		832,3574	319.3+/-296.1	78,676,1449	53	50	51		1269	-8.8	0.9	19	dbSNP_119	51	423,8177	127.2+/-185.5	10,403,3887	no	coding-synonymous	ITPKC	NM_025194.2		88,1079,5336	GG,GA,AA		4.9186,18.8833,9.6494		423/684	41235120	1255,11751	2203	4300	6503	SO:0001819	synonymous_variant	80271	exon3			CCAGGCAGGAGAG	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1269A>G	19.37:g.41235120A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_025194	Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	CCDS12563.1																																																																																			A|0.881;G|0.119	0.119	strong		0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		G	41235120	A	G	41235120	2	3	22	1	0	0	0	0	0	0	0	1	7919	175	7	3		3	ITPKC	19	41235120	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11733	41235120	17893863	9877	14985										
C19orf54	284325	hgsc.bcm.edu	37	chr19	41248532	41248532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcttgccctgcttggacaGcaggtagacagctcccgggg	13	13	1	1	rs36071297	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41248532G>A	ENST00000378313.2	-	6	981	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Silent_p.L116L|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598729.1_Silent_p.L116L|C19orf54_ENST00000470681.1_3'UTR	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	288										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCTTGGACAGCAGGTAGACA	0.657													G|||	137	0.0273562	0.0998	0.0072	5008	,	,		19677	0.0		0.0	False		,,,				2504	0.0				p.L288L		Atlas-SNP	.											.	C19orf54	13	.	0			c.C862T						PASS	.	G		321,4085	170.1+/-200.6	11,299,1893	43	38	39		862	5.5	1	19	dbSNP_126	39	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	C19orf54	NM_198476.3		11,302,6190	AA,AG,GG		0.0349,7.2855,2.4912		288/352	41248532	324,12682	2203	4300	6503	SO:0001819	synonymous_variant	284325	exon6			TGGACAGCAGGTA	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.862C>T	19.37:g.41248532G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	145	78	0.537931	NM_198476	A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	CCDS12564.2																																																																																			G|0.905;A|0.095	0.095	strong		0.657	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		A	41248532	G	A	41248532	2	1	22	1	0	0	0	0	0	0	0	1	1936	962	34	2		2	C19orf54	19	41248532	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13412	41248532	17880451	9878	14986										
C19orf54	284325	hgsc.bcm.edu	37	chr19	41255603	41255603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtaaagctgaaaagtccaGgggacttgggggtagaggag	18	4	0	2	rs2254338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41255603G>A	ENST00000378313.2	-	1	225	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	SNRPA_ENST00000243563.3_5'Flank|C19orf54_ENST00000470681.1_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000598729.1_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	36	Pro-rich.									breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAAAAGTCCAGGGGACTTGGG	0.597													G|||	517	0.103235	0.1203	0.0432	5008	,	,		16282	0.2302		0.0467	False		,,,				2504	0.0501				p.L36L		Atlas-SNP	.											.	C19orf54	13	.	0			c.C106T						PASS	.						9	12	11					19																	41255603		691	1585	2276	SO:0001819	synonymous_variant	284325	exon1			AGTCCAGGGGACT	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.106C>T	19.37:g.41255603G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	159	89	0.559748	NM_198476	A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	CCDS12564.2																																																																																			G|0.877;A|0.123	0.123	strong		0.597	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		A	41255603	G	A	41255603	2	1	22	1	0	0	0	0	0	0	0	1	1936	991	35	2		2	C19orf54	19	41255603	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7071	41255603	17873380	9879	14987										
SNRPA	6626	hgsc.bcm.edu	37	chr19	41263403	41263403	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtttccctttctatgacaaAcctatggtgagcattgcggg	11	9	1	2	rs2230694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41263403A>G	ENST00000243563.3	+	2	790	c.240A>G	c.(238-240)aaA>aaG	p.K80K	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	80	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTATGACAAACCTATGGTGA	0.547													G|||	930	0.185703	0.4077	0.0778	5008	,	,		19227	0.2073		0.0726	False		,,,				2504	0.0562				p.K80K		Atlas-SNP	.											.	SNRPA	20	.	0			c.A240G						PASS	.	G		1443,2963	682.0+/-404.1	237,969,997	85	84	84		240	2.8	1	19	dbSNP_98	84	587,8013	792.9+/-407.5	13,561,3726	no	coding-synonymous	SNRPA	NM_004596.4		250,1530,4723	GG,GA,AA		6.8256,32.7508,15.6082		80/283	41263403	2030,10976	2203	4300	6503	SO:0001819	synonymous_variant	6626	exon2			TGACAAACCTATG	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.240A>G	19.37:g.41263403A>G		Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	168	167	0.994048	NM_004596		Silent	SNP	ENST00000243563.3	37	CCDS12565.1																																																																																			A|0.811;C|0.000;G|0.189;T|0.000	0.189	strong		0.547	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		G	41263403	A	G	41263403	2	3	22	1	0	0	0	0	0	0	0	1	14859	40	2	2		2	SNRPA	19	41263403	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7800	41263403	17865580	9880	14988										
MIA	8190	hgsc.bcm.edu	37	chr19	41281700	41281700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcaggactacatggccccCgactgccgattcctgaccat	8	16	1	1	rs2233156	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41281700C>T	ENST00000263369.3	+	2	337	c.171C>T	c.(169-171)ccC>ccT	p.P57P	RAB4B_ENST00000357052.2_5'Flank|MIA_ENST00000594436.1_Silent_p.P57P|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000597784.1_Silent_p.P57P|RAB4B_ENST00000594800.1_5'Flank|MIA-RAB4B_ENST00000600729.1_Silent_p.P57P	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	57	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		ACATGGCCCCCGACTGCCGAT	0.602													C|||	410	0.081869	0.0877	0.0403	5008	,	,		15818	0.1835		0.0417	False		,,,				2504	0.0399				p.P57P		Atlas-SNP	.											.	MIA	16	.	0			c.C171T						PASS	.	C	,	409,3997	201.5+/-224.5	14,381,1808	67	63	64		171,171	-9.9	0.6	19	dbSNP_98	64	381,8219	123.9+/-182.7	7,367,3926	no	coding-synonymous,coding-synonymous	MIA	NM_001202553.1,NM_006533.3	,	21,748,5734	TT,TC,CC		4.4302,9.2828,6.0741	,	57/132,57/132	41281700	790,12216	2203	4300	6503	SO:0001819	synonymous_variant	8190	exon3			GGCCCCCGACTGC	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.171C>T	19.37:g.41281700C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	138	64	0.463768	NM_001202553	Q6FHV3	Silent	SNP	ENST00000263369.3	37	CCDS12566.1																																																																																			C|0.913;A|0.000	.	strong		0.602	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			T	41281700	C	T	41281700	2	4	22	1	0	0	0	0	0	0	0	1	9563	639	23	1		1	MIA	19	41281700	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18297	41281700	17847283	9881	14989										
EGLN2	112398	hgsc.bcm.edu	37	chr19	41306771	41306771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagtgaaggcgctgcagcGctggtcaccaaggggtgcca	16	11	1	2	rs143206553	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41306771G>A	ENST00000593726.1	+	1	1322	c.294G>A	c.(292-294)gcG>gcA	p.A98A	CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.A98A|EGLN2_ENST00000303961.4_Silent_p.A98A|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	98	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|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)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCGCTGCAGCGCTGGTCACCA	0.677													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		16000	0.0		0.0	False		,,,				2504	0.0				p.A98A		Atlas-SNP	.											.	EGLN2	31	.	0			c.G294A						PASS	.	G	,	77,4321		0,77,2122	14	16	15		294,294	-3.8	0.7	19	dbSNP_134	15	0,8582		0,0,4291	no	coding-synonymous,coding-synonymous	EGLN2	NM_053046.3,NM_080732.3	,	0,77,6413	AA,AG,GG		0.0,1.7508,0.5932	,	98/408,98/408	41306771	77,12903	2199	4291	6490	SO:0001819	synonymous_variant	112398	exon2			TGCAGCGCTGGTC	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.294G>A	19.37:g.41306771G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	63	31	0.492063	NM_053046	A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	CCDS12567.1																																																																																			G|0.993;A|0.007	0.007	strong		0.677	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			A	41306771	G	A	41306771	2	1	22	1	0	0	0	0	0	0	0	1	4969	1074	38	1		1	EGLN2	19	41306771	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25071	41306771	17822212	9882	14990										
EGLN2	112398	hgsc.bcm.edu	37	chr19	41307170	41307170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagccagagggcgatcccGccgcgcagcatccgtgggga	17	13	0	2	rs2545763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41307170G>A	ENST00000593726.1	+	1	1721	c.693G>A	c.(691-693)ccG>ccA	p.P231P	EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.P231P|EGLN2_ENST00000303961.4_Silent_p.P231P			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	231	Beta(2)beta(3) 'finger-like' loop.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|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)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGGCGATCCCGCCGCGCAGCA	0.687													G|||	522	0.104233	0.1074	0.0461	5008	,	,		17303	0.2579		0.0447	False		,,,				2504	0.044				p.P231P		Atlas-SNP	.											EGLN2,NS,carcinoma,0,1	EGLN2	31	1	0			c.G693A						PASS	.	G	,	415,3991	190.9+/-216.7	20,375,1808	47	45	45		693,693	-8.1	0.7	19	dbSNP_100	45	385,8213	119.9+/-179.2	8,369,3922	no	coding-synonymous,coding-synonymous	EGLN2	NM_053046.3,NM_080732.3	,	28,744,5730	AA,AG,GG		4.4778,9.419,6.152	,	231/408,231/408	41307170	800,12204	2203	4299	6502	SO:0001819	synonymous_variant	112398	exon2			GATCCCGCCGCGC	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.693G>A	19.37:g.41307170G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	71	35	0.492958	NM_053046	A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	CCDS12567.1																																																																																			G|0.911;A|0.089	0.089	strong		0.687	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			A	41307170	G	A	41307170	2	1	22	1	0	0	0	0	0	0	0	1	4969	1074	38	1		1	EGLN2	19	41307170	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	399	41307170	17821813	9883	14991										
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41383217	41383217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccatgtagggcatcttggTccggtcctcaaacttgggct	11	12	2	0	rs2302987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41383217T>C	ENST00000301146.4	-	7	1580	c.1039A>G	c.(1039-1041)Acc>Gcc	p.T347A	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.T296A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	347						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGCATCTTGGTCCGGTCCTCA	0.537													.|||	930	0.185703	0.2005	0.1124	5008	,	,		17445	0.2123		0.2386	False		,,,				2504	0.136				p.T347A		Atlas-SNP	.											.	CYP2A7	71	.	0			c.A1039G						PASS	.	T	ALA/THR,ALA/THR	834,3572	319.6+/-296.2	85,664,1454	113	92	99		1039,886	-1.2	0.2	19	dbSNP_100	99	2007,6589	346.0+/-326.0	290,1427,2581	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	58,58	375,2091,4035	CC,CT,TT		23.3481,18.9287,21.8505	benign,benign	347/495,296/444	41383217	2841,10161	2203	4298	6501	SO:0001583	missense	1549	exon7			TCTTGGTCCGGTC	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1039A>G	19.37:g.41383217T>C	ENSP00000301146:p.Thr347Ala	Somatic	362	0	0		WXS	Illumina HiSeq	Phase_I	273	96	0.351648	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	391	0.17902930402930403	85	0.17276422764227642	39	0.10773480662983426	104	0.18181818181818182	163	0.21503957783641162	T	0	-2.672588	0.00104	0.189287	0.233481	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.66638	-0.22;-0.22	2.18	-1.22	0.09494	.	0.614141	0.16066	N	0.231229	T	0.00012	0.0000	N	0.01091	-1.02	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13926	-1.0491	9	0.14252	T	0.57	.	3.328	0.07074	0.1947:0.2753:0.0:0.5299	rs2302987	296;347	F8W816;P20853	.;CP2A7_HUMAN	A	347;296	ENSP00000301146:T347A;ENSP00000291764:T296A	ENSP00000291764:T296A	T	-	1	0	CYP2A7	46075057	0.000000	0.05858	0.151000	0.22473	0.217000	0.24651	-2.409000	0.01041	-0.391000	0.07763	-1.372000	0.01188	ACC	T|0.500;C|0.500	0.500	strong		0.537	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		C	41383217	T	C	41383217	3	2	22	1	0	0	0	0	1	0	0	0	4163	1667	58	2	457	2	CYP2A7	19	41383217	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	76047	41383217	17745766	9884	14992										
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41384702	41384702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaggagtcgatgaagtccTgtggggaattgggatccagc	16	6	0	1	rs117539170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41384702T>C	ENST00000301146.4	-	5	1335	c.794A>G	c.(793-795)cAg>cGg	p.Q265R	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.Q214R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	265						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGAAGTCCTGTGGGGAATT	0.572													.|||	699	0.139577	0.1664	0.1052	5008	,	,		18540	0.0456		0.2336	False		,,,				2504	0.1278				p.Q265R		Atlas-SNP	.											.	CYP2A7	71	.	0			c.A794G						PASS	.						122	92	103					19																	41384702		2203	4299	6502	SO:0001583	missense	1549	exon5			AAGTCCTGTGGGG	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.794A>G	19.37:g.41384702T>C	ENSP00000301146:p.Gln265Arg	Somatic	347	0	0		WXS	Illumina HiSeq	Phase_I	296	118	0.398649	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	284	0.13003663003663005	73	0.1483739837398374	36	0.09944751381215469	16	0.027972027972027972	159	0.20976253298153033	C	0.267	-0.995466	0.02145	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.64260	-0.09;-0.09	2.18	2.18	0.27775	.	0.117868	0.53938	N	0.000051	T	0.00012	0.0000	N	0.00098	-2.145	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22977	-1.0201	9	0.02654	T	1	.	6.4282	0.21782	0.0:0.8412:0.0:0.1588	.	214;265	F8W816;P20853	.;CP2A7_HUMAN	R	265;214	ENSP00000301146:Q265R;ENSP00000291764:Q214R	ENSP00000291764:Q214R	Q	-	2	0	CYP2A7	46076542	0.002000	0.14202	0.033000	0.17914	0.219000	0.24729	1.278000	0.33179	0.257000	0.21650	-1.160000	0.01791	CAG	T|0.870;C|0.130	0.130	strong		0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		C	41384702	T	C	41384702	3	2	22	1	0	0	0	0	1	0	0	0	4163	1580	55	3	710	3	CYP2A7	19	41384702	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1485	41384702	17744281	9885	14993										
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41386033	41386033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaagattcctagcatcaTgctcagcagtgacaggaact	10	10	2	2	rs73032311	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41386033T>C	ENST00000301146.4	-	4	1151	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.M153V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	204						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTAGCATCATGCTCAGCAGT	0.567													.|||	569	0.113618	0.0802	0.0807	5008	,	,		9800	0.1796		0.1441	False		,,,				2504	0.0828				p.M204V		Atlas-SNP	.											.	CYP2A7	71	.	0			c.A610G						PASS	.	T	VAL/MET,VAL/MET	408,3998	202.8+/-225.5	17,374,1812	163	136	145		610,457	0.8	0	19	dbSNP_131	145	1367,7233	267.1+/-287.1	131,1105,3064	yes	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	21,21	148,1479,4876	CC,CT,TT		15.8953,9.2601,13.6475	possibly-damaging,possibly-damaging	204/495,153/444	41386033	1775,11231	2203	4300	6503	SO:0001583	missense	1549	exon4			GCATCATGCTCAG	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.610A>G	19.37:g.41386033T>C	ENSP00000301146:p.Met204Val	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	237	116	0.489451	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	299	0.13690476190476192	49	0.09959349593495935	32	0.08839779005524862	106	0.1853146853146853	112	0.14775725593667546	t	5.558	0.287753	0.10513	0.092601	0.158953	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68331	-0.32;-0.32	1.95	0.761	0.18448	.	0.227903	0.43579	U	0.000551	T	0.00109	0.0003	L	0.37507	1.11	0.80722	P	0.0	B;B	0.24533	0.03;0.105	B;B	0.22386	0.036;0.039	T	0.02758	-1.1114	9	0.40728	T	0.16	.	4.8627	0.13592	0.2728:0.0:0.0:0.7272	.	153;204	F8W816;P20853	.;CP2A7_HUMAN	V	204;153	ENSP00000301146:M204V;ENSP00000291764:M153V	ENSP00000291764:M153V	M	-	1	0	CYP2A7	46077873	0.830000	0.29337	0.002000	0.10522	0.018000	0.09664	1.082000	0.30803	0.000000	0.14550	0.147000	0.16070	ATG	T|0.862;C|0.138	0.138	strong		0.567	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		C	41386033	T	C	41386033	3	2	22	1	0	0	0	0	1	0	0	0	4163	1464	51	2	898	2	CYP2A7	19	41386033	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1331	41386033	17742950	9886	14994										
CYP2B6	1555	hgsc.bcm.edu	37	chr19	41497274	41497274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgctactcctggttcagCgccaccctaacacccatgac	6	17	2	1	rs8192709|rs71337213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41497274C>T	ENST00000324071.4	+	1	71	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	22			R -> C (in allele CYP2B6*2 and allele CYP2B6*10; dbSNP:rs8192709). {ECO:0000269|PubMed:11470993, ECO:0000269|PubMed:12721789, ECO:0000269|PubMed:14551287, ECO:0000269|PubMed:15469410, ECO:0000269|Ref.4}.		cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R22C(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCTGGTTCAGCGCCACCCTAA	0.592													C|||	238	0.047524	0.0416	0.0432	5008	,	,		16955	0.0466		0.0626	False		,,,				2504	0.044				p.R22C		Atlas-SNP	.											CYP2B6,NS,carcinoma,0,1	CYP2B6	79	1	1	Substitution - Missense(1)	prostate(1)	c.C64T						PASS	.	C	CYS/ARG	167,4239	110.4+/-148.6	4,159,2040	173	171	172		64	-3.9	0	19	dbSNP_117	172	461,8139	138.3+/-195.1	8,445,3847	no	missense	CYP2B6	NM_000767.4	180	12,604,5887	TT,TC,CC		5.3605,3.7903,4.8285	possibly-damaging	22/492	41497274	628,12378	2203	4300	6503	SO:0001583	missense	1555	exon1			GTTCAGCGCCACC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.64C>T	19.37:g.41497274C>T	ENSP00000324648:p.Arg22Cys	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_000767	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	116	0.05311355311355311	30	0.06097560975609756	17	0.04696132596685083	21	0.03671328671328671	48	0.0633245382585752	C	12.39	1.924590	0.34002	0.037903	0.053605	ENSG00000197408	ENST00000324071	T	0.72051	-0.62	3.1	-3.9	0.04181	.	2.434140	0.01832	U	0.034741	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	B	0.38106	0.265	T	0.39820	-0.9595	10	0.87932	D	0	.	5.104	0.14773	0.2444:0.3357:0.4199:0.0	rs8192709;rs8192709	22	P20813	CP2B6_HUMAN	C	22	ENSP00000324648:R22C	ENSP00000324648:R22C	R	+	1	0	CYP2B6	46189114	0.005000	0.15991	0.000000	0.03702	0.006000	0.05464	-0.000000	0.12993	-0.500000	0.06614	-0.735000	0.03563	CGC	C|0.950;T|0.050	0.050	strong		0.592	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41497274	C	T	41497274	3	4	22	1	0	0	0	0	1	0	0	0	4164	768	27	1	66	1	CYP2B6	19	41497274	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111241	41497274	17631709	9887	14995										
CYP2B6	1555	hgsc.bcm.edu	37	chr19	41509950	41509950	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcacggtacacctgggaccGaggcccgtggtcatgctgtg	14	12	2	0	rs2279341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41509950G>C	ENST00000324071.4	+	2	223	c.216G>C	c.(214-216)ccG>ccC	p.P72P	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Silent_p.P32P	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	72					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACCTGGGACCGAGGCCCGTGG	0.572													G|||	260	0.0519169	0.0514	0.049	5008	,	,		16735	0.0486		0.0606	False		,,,				2504	0.0491				p.P72P		Atlas-SNP	.											CYP2B6,NS,carcinoma,0,1	CYP2B6	79	1	0			c.G216C						PASS	.	G		195,4211		3,189,2011	62	63	63		216	-8.3	0	19	dbSNP_100	63	466,8130		8,450,3840	no	coding-synonymous	CYP2B6	NM_000767.4		11,639,5851	CC,CG,GG		5.4211,4.4258,5.0838		72/492	41509950	661,12341	2203	4298	6501	SO:0001819	synonymous_variant	1555	exon2			GGGACCGAGGCCC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.216G>C	19.37:g.41509950G>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	160	67	0.41875	NM_000767	B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	CCDS12570.1																																																																																			.	.	weak		0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		C	41509950	G	C	41509950	2	2	22	1	0	0	0	0	0	0	0	1	4164	1045	37	4		4	CYP2B6	19	41509950	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12676	41509950	17619033	9888	14996										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41622107	41622108	+	Frame_Shift_Ins	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaccatggacagcataagINScacagccatcttactcctgc					rs79512346|rs79756737|rs3833221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41622107_41622108insC	ENST00000331105.2	+	2	86_87	c.14_15insC	c.(13-18)agcacafs	p.T6fs		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	6					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACAGCATAAGCACAGCCATCT	0.574													C|C|CC|insertion	1362	0.271965	0.4251	0.1873	5008	,	,		21760	0.251		0.1799	False		,,,				2504	0.2413				p.S5fs		Pindel	.											.	CYP2F1	60	.	0			c.14_15insC	GRCh37	CI071425	CYP2F1	I	rs3833221	PASS	.			1649,2615		313,1023,796						-0.3	0		dbSNP_107	110	1550,6704		137,1276,2714	yes	frameshift	CYP2F1	NM_000774.3		450,2299,3510	A1A1,A1R,RR		18.7788,38.6726,25.5552				3199,9319				SO:0001589	frameshift_variant	1572	exon2			.	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.15dupC	19.37:g.41622108_41622108dupC	ENSP00000333534:p.Thr6fs	Somatic	105	.	.		WXS	Illumina HiSeq	Phase_I	101	59	0.584	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Frame_Shift_Ins	INS	ENST00000331105.2	37	CCDS12572.1																																																																																			-|0.741;C|0.259	0.259	strong		0.574	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			C	41622108	-	C	41622107	7	5	22	1	0	1	1	0	0	0	0	0	4171	971	34	0	16	0	CYP2F1	19	41622107	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	112157	41622107	17506876	9889	14997										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41622189	41622189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gataagggaaagctgcctccGggacccagacccctctcaat	10	14	1	1	rs305968	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41622189G>A	ENST00000331105.2	+	2	168	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	32					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGCTGCCTCCGGGACCCAGAC	0.547													A|||	2074	0.414137	0.5787	0.4957	5008	,	,		20578	0.2798		0.3131	False		,,,				2504	0.3763				p.P32P		Atlas-SNP	.											.	CYP2F1	60	.	0			c.G96A						PASS	.	A		2395,2011	561.6+/-380.8	657,1081,465	184	179	181		96	0.3	0.8	19	dbSNP_79	181	2632,5968	687.3+/-404.2	410,1812,2078	no	coding-synonymous	CYP2F1	NM_000774.3		1067,2893,2543	AA,AG,GG		30.6047,45.6423,38.6514		32/492	41622189	5027,7979	2203	4300	6503	SO:0001819	synonymous_variant	1572	exon2			GCCTCCGGGACCC	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.96G>A	19.37:g.41622189G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	CCDS12572.1																																																																																			G|0.601;A|0.399	0.399	strong		0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41622189	G	A	41622189	2	1	22	1	0	0	0	0	0	0	0	1	4171	1103	39	1		1	CYP2F1	19	41622189	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82	41622189	17506794	9890	14998										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41627868	41627868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctggtccccagttgtacGacatcttcccgagcctcctg	9	15	2	0	rs80319612	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41627868G>A	ENST00000331105.2	+	6	724	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	218			D -> N (in allele CYP2F1*3 and in allele CYP2F1*4; dbSNP:rs80319612).		naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCAGTTGTACGACATCTTCCC	0.592													N|||	1987	0.396765	0.5265	0.4841	5008	,	,		12536	0.2877		0.3091	False		,,,				2504	0.362				p.D218N		Atlas-SNP	.											.	CYP2F1	60	.	0			c.G652A						PASS	.	A	ASN/ASP	2228,2176		565,1098,539	63	66	65		652	3	0.9	19	dbSNP_131	65	2521,6077		380,1761,2158	no	missense	CYP2F1	NM_000774.3	23	945,2859,2697	AA,AG,GG		29.3208,49.4096,36.5251	benign	218/492	41627868	4749,8253	2202	4299	6501	SO:0001583	missense	1572	exon6			TTGTACGACATCT	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.652G>A	19.37:g.41627868G>A	ENSP00000333534:p.Asp218Asn	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	206	204	0.990291	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	827	0.37866300366300365	269	0.5467479674796748	160	0.4419889502762431	156	0.2727272727272727	242	0.31926121372031663	N	0.008	-1.929886	0.00488	0.505904	0.293208	ENSG00000197446	ENST00000331105	T	0.69685	-0.42	3.04	3.04	0.35103	.	0.050287	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00642	-1.3	0.51482	P	7.699999999999374E-5	B;B;B	0.25272	0.122;0.001;0.001	B;B;B	0.16722	0.016;0.001;0.001	T	0.45411	-0.9263	9	0.02654	T	1	.	6.7434	0.23449	0.8737:0.0:0.1263:0.0	rs305974;rs4803377;rs62117447;rs305974	4;218;218	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	N	218	ENSP00000333534:D218N	ENSP00000333534:D218N	D	+	1	0	CYP2F1	46319708	0.000000	0.05858	0.905000	0.35620	0.009000	0.06853	-0.513000	0.06305	0.241000	0.21283	-2.092000	0.00371	GAC	G|0.637;A|0.363	0.363	strong		0.592	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41627868	G	A	41627868	3	1	22	1	0	0	0	0	1	0	0	0	4171	1058	37	1	670	1	CYP2F1	19	41627868	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5679	41627868	17501115	9891	14999										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41628014	41628014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccccgggacttcatccaGtgcttcctcaccaagatggc	8	16	3	1	rs75405062		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41628014G>C	ENST00000331105.2	+	6	870	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	266			Q -> H (in allele CYP2F1*3). {ECO:0000269|PubMed:11827709}.		naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACTTCATCCAGTGCTTCCTCA	0.572																																					p.Q266H		Atlas-SNP	.											CYP2F1,NS,carcinoma,+2,1	CYP2F1	60	1	0			c.G798C						scavenged	.	C	HIS/GLN	162,3888		1,160,1864	50	48	48		798	-4.7	0.4	19	dbSNP_132	48	113,8171		0,113,4029	no	missense	CYP2F1	NM_000774.3	24	1,273,5893	CC,CG,GG		1.3641,4.0,2.2296	benign	266/492	41628014	275,12059	2025	4142	6167	SO:0001583	missense	1572	exon6			CATCCAGTGCTTC	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.798G>C	19.37:g.41628014G>C	ENSP00000333534:p.Gln266His	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	68	14	0.205882	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	449	0.20558608058608058	107	0.21747967479674796	82	0.2265193370165746	109	0.19055944055944055	151	0.19920844327176782	N	5.932	0.355925	0.11239	0.04	0.013641	ENSG00000197446	ENST00000331105	T	0.12569	2.67	3.27	-4.65	0.03339	.	0.052380	0.64402	U	0.000001	T	0.00012	0.0000	N	0.02247	-0.625	0.51767	P	6.20000000000065E-5	D;B;B	0.64830	0.994;0.227;0.021	P;B;B	0.59595	0.86;0.017;0.007	T	0.42310	-0.9459	9	0.87932	D	0	.	8.662	0.34099	0.0:0.6997:0.1315:0.1688	.	52;266;266	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	H	266	ENSP00000333534:Q266H	ENSP00000333534:Q266H	Q	+	3	2	CYP2F1	46319854	0.006000	0.16342	0.412000	0.26496	0.011000	0.07611	0.096000	0.15147	-1.780000	0.01279	-2.252000	0.00282	CAG	G|0.250;C|0.750	0.750	weak		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			C	41628014	G	C	41628014	3	2	22	1	0	0	0	0	1	0	0	0	4171	1020	36	4	816	4	CYP2F1	19	41628014	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	146	41628014	17500969	9892	15000										
TGFB1	80776	hgsc.bcm.edu	37	chr19	41858921	41858921	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagcagcggtagcagcagcGgcagcagccgcagcccggag	16	14	0	0	rs1800470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41858921G>A	ENST00000243578.3	-	0	1027				TMEM91_ENST00000604123.1_5'Flank|TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_Missense_Mutation_p.P10L	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						tagcagcagcggcagcagccg	0.731													G|||	2731	0.545327	0.5862	0.4942	5008	,	,		11309	0.4454		0.6183	False		,,,				2504	0.5542				p.P10L		Atlas-SNP	.											.	TGFB1	27	.	0			c.C29T	GRCh37	CM002115	TGFB1	M	rs1800470	PASS	.						4	3	4					19																	41858921		1381	2874	4255	SO:0001628	intergenic_variant	7040	exon1			AGCAGCGGCAGCA	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858921G>A		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	8	5	0.625	NM_000660		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	1213	0.5554029304029304	288	0.5853658536585366	194	0.5359116022099447	276	0.4825174825174825	455	0.600263852242744	G	15.42	2.828179	0.50845	.	.	ENSG00000105329	ENST00000221930	T	0.26518	1.73	3.88	1.45	0.22620	.	1.172640	0.06054	N	0.657121	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999585855	.	.	.	.	.	.	T	0.42413	-0.9453	6	0.11794	T	0.64	1.3735	6.0338	0.19694	0.1381:0.2095:0.6524:0.0	rs1800470;rs1982073;rs3745293;rs17849267;rs17849435;rs17851976;rs60195696;rs1982073	.	.	.	L	10	ENSP00000221930:P10L	ENSP00000221930:P10L	P	-	2	0	TGFB1	46550761	0.991000	0.36638	1.000000	0.80357	0.984000	0.73092	0.753000	0.26376	0.757000	0.33036	0.462000	0.41574	CCG	G|0.436;A|0.564	0.564	strong		0.731	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		A	41858921	G	A	41858921	1	1	22	0	1	0	0	0	0	0	0	0	15813	1116	39	1		1	TGFB1	19	41858921	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	230907	41858921	17270062	9893	15001										
B9D2	80776	hgsc.bcm.edu	37	chr19	41869392	41869392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgagaaaccgctggccccTatgatctgcccgatcacgtg	10	15	2	2	rs2241714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:41869392T>C	ENST00000243578.3	-	2	252	c.33A>G	c.(31-33)atA>atG	p.I11M	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000413014.2_5'Flank|TMEM91_ENST00000539627.1_Intron|B9D2_ENST00000601597.1_5'UTR|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	11	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.		I -> M (in dbSNP:rs2241714). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						CGCTGGCCCCTATGATCTGCC	0.537													C|||	3253	0.649561	0.8608	0.5461	5008	,	,		18734	0.4464		0.675	False		,,,				2504	0.6207				p.I11M		Atlas-SNP	.											.	B9D2	9	.	0			c.A33G						PASS	.	C	MET/ILE	3637,769	310.8+/-291.8	1513,611,79	69	58	62		33	-1.1	0.3	19	dbSNP_98	62	5786,2814	442.9+/-360.2	1943,1900,457	yes	missense	B9D2	NM_030578.3	10	3456,2511,536	CC,CT,TT		32.7209,17.4535,27.5488	benign	11/176	41869392	9423,3583	2203	4300	6503	SO:0001583	missense	80776	exon2			GGCCCCTATGATC	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.33A>G	19.37:g.41869392T>C	ENSP00000243578:p.Ile11Met	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_030578		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	1421	0.6506410256410257	419	0.8516260162601627	213	0.5883977900552486	276	0.4825174825174825	513	0.6767810026385225	C	11.10	1.538474	0.27475	0.825465	0.672791	ENSG00000123810	ENST00000243578	T	0.69926	-0.44	5.08	-1.13	0.09775	.	0.463445	0.22241	N	0.062693	T	0.00012	0.0000	L	0.55103	1.725	0.36668	P	0.12166299999999997	B	0.06786	0.001	B	0.10450	0.005	T	0.19679	-1.0298	9	0.46703	T	0.11	.	5.3714	0.16142	0.1756:0.4159:0.0:0.4086	rs2241714;rs17856099;rs17856116;rs60400278;rs2241714	11	Q9BPU9	B9D2_HUMAN	M	11	ENSP00000243578:I11M	ENSP00000243578:I11M	I	-	3	3	B9D2	46561232	0.258000	0.24033	0.296000	0.24974	0.829000	0.46940	-0.226000	0.09139	-0.144000	0.11314	-0.320000	0.08662	ATA	T|0.311;C|0.689	0.689	strong		0.537	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		C	41869392	T	C	41869392	3	2	22	1	0	0	0	0	1	0	0	0	1278	1512	53	3	506	3	B9D2	19	41869392	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10471	41869392	17259591	9894	15002										
CEACAM21	90273	hgsc.bcm.edu	37	chr19	42083673	42083673	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttatctgcccgagaatctTtacagctatggctggtacaa	9	9	2	1	rs7247842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42083673T>C	ENST00000401445.2	+	2	212	c.186T>C	c.(184-186)ctT>ctC	p.L62L	CEACAM21_ENST00000187608.9_Silent_p.L62L|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	62						integral component of membrane (GO:0016021)		p.L62L(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGAGAATCTTTACAGCTATG	0.502													t|||	1154	0.230431	0.41	0.0807	5008	,	,		21314	0.3562		0.0537	False		,,,				2504	0.1462				p.L62L		Atlas-SNP	.											CEACAM21_ENST00000401445,NS,carcinoma,0,1	CEACAM21	52	1	1	Substitution - coding silent(1)	stomach(1)	c.T186C						PASS	.	T	,	1293,2713		202,889,912	72	74	74		186,186	0.4	0	19	dbSNP_116	74	297,8119		4,289,3915	no	coding-synonymous,coding-synonymous	CEACAM21	NM_001098506.1,NM_033543.3	,	206,1178,4827	CC,CT,TT		3.529,32.2766,12.7999	,	62/294,62/293	42083673	1590,10832	2003	4208	6211	SO:0001819	synonymous_variant	90273	exon2			GAATCTTTACAGC	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.186T>C	19.37:g.42083673T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	180	179	0.994444	NM_033543	B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP	ENST00000401445.2	37	CCDS46086.1																																																																																			T|0.766;C|0.234	0.234	strong		0.502	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		C	42083673	T	C	42083673	2	2	22	1	0	0	0	0	0	0	0	1	3192	1828	64	2		2	CEACAM21	19	42083673	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	214281	42083673	17045310	9895	15003										
CEACAM21	90273	hgsc.bcm.edu	37	chr19	42092225	42092225	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacagctccatctcctagGtaagactgtccgttcccaat	7	14	1	2	rs62119455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42092225G>A	ENST00000401445.2	+	6	908		c.e6+1		CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000407170.2_Splice_Site|CEACAM21_ENST00000187608.9_Splice_Site			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CATCTCCTAGGTAAGACTGTC	0.592													g|||	124	0.0247604	0.0825	0.0072	5008	,	,		17365	0.0		0.0099	False		,,,				2504	0.0				.		Atlas-SNP	.											.	CEACAM21	52	.	0			c.882+1G>A						PASS	.	G	,	261,3973		8,245,1864	63	66	65		,	1.2	0	19	dbSNP_129	65	58,8460		1,56,4202	yes	splice-5,splice-5	CEACAM21	NM_001098506.1,NM_033543.3	,	9,301,6066	AA,AG,GG		0.6809,6.1644,2.5016	,	,	42092225	319,12433	2117	4259	6376	SO:0001630	splice_region_variant	90273	exon6			TCCTAGGTAAGAC	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.879+1G>A	19.37:g.42092225G>A		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	158	158	1	NM_001098506	B7WNQ6|O75296|Q6UY47|Q96ER7	Splice_Site	SNP	ENST00000401445.2	37	CCDS46086.1																																																																																			G|0.981;A|0.019	0.019	strong		0.592	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543	Intron	A	42092225	G	A	42092225	5	1	22	1	0	0	0	0	0	0	1	0	3192	1275	44	2	905	2	CEACAM21	19	42092225	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8552	42092225	17036758	9896	15004										
CEACAM4	1089	hgsc.bcm.edu	37	chr19	42125709	42125709	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccagaggaacctaagaGaccacatctgctttgtggtc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42125709G>A	ENST00000221954.2	-	7	839	c.729C>T	c.(727-729)gtC>gtT	p.V243V		NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	243						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GAACCTAAGAGACCACATCTG	0.532																																					p.V243V		Atlas-SNP	.											CEACAM4,NS,neuroblastoma,0,1	CEACAM4	42	1	0			c.C729T						PASS	.						113	108	110					19																	42125709		2203	4300	6503	SO:0001819	synonymous_variant	1089	exon7			CTAAGAGACCACA	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.729C>T	19.37:g.42125709G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	114	54	0.473684	NM_001817	Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	CCDS33033.1																																																																																			.	.	none		0.532	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		A	42125709	G	A	42125709	2	1	22	1	0	0	0	0	0	0	0	1	3194	929	33	2		2	CEACAM4	19	42125709	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33484	42125709	17003274	9897	15005	308	2								
CEACAM4	1089	hgsc.bcm.edu	37	chr19	42125710	42125710	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccagaggaacctaagagAccacatctgctttgtggtcg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42125710A>G	ENST00000221954.2	-	7	838	c.728T>C	c.(727-729)gTc>gCc	p.V243A		NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	243						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AACCTAAGAGACCACATCTGC	0.532																																					p.V243A		Atlas-SNP	.											CEACAM4,NS,neuroblastoma,+1,1	CEACAM4	42	1	0			c.T728C						PASS	.						114	109	111					19																	42125710		2203	4300	6503	SO:0001583	missense	1089	exon7			TAAGAGACCACAT	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.728T>C	19.37:g.42125710A>G	ENSP00000221954:p.Val243Ala	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	116	55	0.474138	NM_001817	Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.908731	0.00508	.	.	ENSG00000105352	ENST00000221954	T	0.01139	5.28	2.4	-3.74	0.04385	.	.	.	.	.	T	0.00440	0.0014	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43956	-0.9359	9	0.06365	T	0.9	.	3.7364	0.08512	0.3171:0.4027:0.2802:0.0	.	243	O75871	CEAM4_HUMAN	A	243	ENSP00000221954:V243A	ENSP00000221954:V243A	V	-	2	0	CEACAM4	46817550	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.439000	0.02414	-0.683000	0.05190	-0.427000	0.05922	GTC	.	.	none		0.532	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		G	42125710	A	G	42125710	3	3	22	1	0	0	0	0	1	0	0	0	3194	275	10	2	10	2	CEACAM4	19	42125710	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	42125710	17003273	9898	15006	308	2								
CEACAM4	1089	hgsc.bcm.edu	37	chr19	42132193	42132193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccttctgccgttttccccTtgtgccaataataggcttga	7	13	1	1	rs3848568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42132193T>C	ENST00000221954.2	-	2	316	c.206A>G	c.(205-207)aAg>aGg	p.K69R	CEACAM4_ENST00000600925.1_Missense_Mutation_p.K69R	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	69	Ig-like V-type.		K -> R (in dbSNP:rs3848568).			integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CGTTTTCCCCTTGTGCCAATA	0.473													T|||	559	0.111621	0.3366	0.1009	5008	,	,		18434	0.0		0.0099	False		,,,				2504	0.0348				p.K69R		Atlas-SNP	.											.	CEACAM4	42	.	0			c.A206G						PASS	.	T	ARG/LYS	1274,3132	433.1+/-343.5	191,892,1120	123	121	122		206	-1.5	0	19	dbSNP_108	122	171,8429	79.5+/-142.1	4,163,4133	yes	missense	CEACAM4	NM_001817.2	26	195,1055,5253	CC,CT,TT		1.9884,28.9151,11.1103	benign	69/245	42132193	1445,11561	2203	4300	6503	SO:0001583	missense	1089	exon2			TTCCCCTTGTGCC	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.206A>G	19.37:g.42132193T>C	ENSP00000221954:p.Lys69Arg	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	237	132	0.556962	NM_001817	Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	CCDS33033.1	232	0.10622710622710622	181	0.3678861788617886	44	0.12154696132596685	0	0.0	7	0.009234828496042216	T	12.11	1.839959	0.32513	0.289151	0.019884	ENSG00000105352	ENST00000221954	T	0.66638	-0.22	1.76	-1.49	0.08718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.39085	1.19	0.80722	P	0.0	P;D	0.69078	0.711;0.997	P;D	0.79108	0.531;0.992	T	0.16482	-1.0401	8	0.30854	T	0.27	.	5.1146	0.14827	0.0:0.5172:0.0:0.4828	rs3848568;rs3848568	69;69	E7EMX3;O75871	.;CEAM4_HUMAN	R	69	ENSP00000221954:K69R	ENSP00000221954:K69R	K	-	2	0	CEACAM4	46824033	0.003000	0.15002	0.019000	0.16419	0.737000	0.42083	0.135000	0.15952	-0.458000	0.07023	0.172000	0.16884	AAG	T|0.883;C|0.117	0.117	strong		0.473	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		C	42132193	T	C	42132193	3	2	22	1	0	0	0	0	1	0	0	0	3194	1609	56	3	552	3	CEACAM4	19	42132193	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6483	42132193	16996790	9899	15007										
CEACAM5	1048	hgsc.bcm.edu	37	chr19	42221418	42221418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcaacaactccaaccccGtggaggatgaggatgctgta	11	12	0	1	rs75927810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42221418G>A	ENST00000221992.6	+	5	1117	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	CEACAM5_ENST00000405816.1_Missense_Mutation_p.V335M|CEACAM5_ENST00000398599.4_Missense_Mutation_p.V334M|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	335	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCCAACCCCGTGGAGGATGA	0.532													g|||	97	0.019369	0.0688	0.0072	5008	,	,		21742	0.0		0.001	False		,,,				2504	0.0				p.V335M		Atlas-SNP	.											CEACAM5,NS,carcinoma,-2,1	CEACAM5	84	1	0			c.G1003A						PASS	.	G	MET/VAL	231,4175	135.7+/-171.8	6,219,1978	143	144	144		1003	-5.6	0	19	dbSNP_131	144	7,8593	5.7+/-21.5	0,7,4293	yes	missense	CEACAM5	NM_004363.2	21	6,226,6271	AA,AG,GG		0.0814,5.2429,1.8299	benign	335/703	42221418	238,12768	2203	4300	6503	SO:0001583	missense	1048	exon5			AACCCCGTGGAGG	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1003G>A	19.37:g.42221418G>A	ENSP00000221992:p.Val335Met	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	172	91	0.52907	NM_004363	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	25|25	0.011446886446886446|0.011446886446886446	19|19	0.03861788617886179|0.03861788617886179	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	7.757|7.757	0.704676|0.704676	0.15172|0.15172	0.052429|0.052429	8.14E-4|8.14E-4	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.72167	.|-0.63;-0.63	2.77|2.77	-5.55|-5.55	0.02536|0.02536	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.38852|0.38852	0.1056|0.1056	M|M	0.83603|0.83603	2.65|2.65	0.09310|0.09310	N|N	1|1	.|P;D	.|0.63880	.|0.881;0.993	.|P;D	.|0.64042	.|0.572;0.921	T|T	0.60697|0.60697	-0.7212|-0.7212	5|9	.|0.56958	.|D	.|0.05	.|.	0.9149|0.9149	0.01302|0.01302	0.3457:0.1551:0.3423:0.1569|0.3457:0.1551:0.3423:0.1569	.|.	.|335;335	.|P06731;Q53G30	.|CEAM5_HUMAN;.	H|M	330|335	.|ENSP00000221992:V335M;ENSP00000385072:V335M	.|ENSP00000221992:V335M	R|V	+|+	2|1	0|0	CEACAM5|CEACAM5	46913258|46913258	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.341000|-1.341000	0.02647|0.02647	-1.658000|-1.658000	0.01490|0.01490	-0.706000|-0.706000	0.03657|0.03657	CGT|GTG	G|0.985;A|0.015	0.015	strong		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42221418	G	A	42221418	3	1	22	1	0	0	0	0	1	0	0	0	3195	1145	40	1	1021	1	CEACAM5	19	42221418	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	89225	42221418	16907565	9900	15008										
CEACAM6	4680	hgsc.bcm.edu	37	chr19	42260697	42260697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgtaggatatgtaatagGaactcaacaagctaccccag	8	8	1	0	rs61736638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42260697G>A	ENST00000199764.6	+	2	472	c.254G>A	c.(253-255)gGa>gAa	p.G85E	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	85	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TATGTAATAGGAACTCAACAA	0.498													g|||	146	0.0291534	0.1074	0.0043	5008	,	,		18669	0.0		0.001	False		,,,				2504	0.0				p.G85E		Atlas-SNP	.											.	CEACAM6	52	.	0			c.G254A						PASS	.	G	GLU/GLY	359,4047	184.3+/-211.7	13,333,1857	246	230	235		254	-3.8	0	19	dbSNP_129	235	7,8589	5.0+/-18.6	0,7,4291	no	missense	CEACAM6	NM_002483.4	98	13,340,6148	AA,AG,GG		0.0814,8.148,2.815	benign	85/345	42260697	366,12636	2203	4298	6501	SO:0001583	missense	4680	exon2			TAATAGGAACTCA	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.254G>A	19.37:g.42260697G>A	ENSP00000199764:p.Gly85Glu	Somatic	446	1	0.00224215		WXS	Illumina HiSeq	Phase_I	429	205	0.477855	NM_002483	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	CCDS12585.1	51	0.023351648351648352	47	0.09552845528455285	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	0.011	-1.703438	0.00719	0.08148	8.14E-4	ENSG00000086548	ENST00000199764	T	0.64085	-0.08	1.92	-3.84	0.04256	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01189	0.0039	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.02333	-1.1175	9	0.54805	T	0.06	.	5.4199	0.16394	0.2722:0.4787:0.2491:0.0	rs61736638	85	P40199	CEAM6_HUMAN	E	85	ENSP00000199764:G85E	ENSP00000199764:G85E	G	+	2	0	CEACAM6	46952537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.930000	0.00689	-3.925000	0.00091	-3.948000	0.00015	GGA	G|0.974;A|0.026	0.026	strong		0.498	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			A	42260697	G	A	42260697	3	1	22	1	0	0	0	0	1	0	0	0	3196	1174	41	2	260	2	CEACAM6	19	42260697	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39279	42260697	16868286	9901	15009										
LYPD4	147719	hgsc.bcm.edu	37	chr19	42342319	42342319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagcctttaaagcccacAactccccttgcagtccctga	6	17	0	1	rs2290695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42342319A>G	ENST00000330743.3	-	4	1439	c.228T>C	c.(226-228)gtT>gtC	p.V76V	LYPD4_ENST00000343055.4_Silent_p.V41V|LYPD4_ENST00000601246.1_Silent_p.V41V|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	76						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TAAAGCCCACAACTCCCCTTG	0.577													-|||	3032	0.605431	0.91	0.5764	5008	,	,		17010	0.5208		0.4722	False		,,,				2504	0.4387				p.V76V		Atlas-SNP	.											.	LYPD4	30	.	0			c.T228C						PASS	.			3672,734	756.9+/-412.7	1543,586,74	56	55	55		228	-3.5	0.4	19	dbSNP_100	55	4144,4456	564.2+/-388.3	975,2194,1131	no	coding-synonymous	LYPD4	NM_173506.4		2518,2780,1205	GG,GA,AA		48.186,16.6591,39.9047		76/247	42342319	7816,5190	2203	4300	6503	SO:0001819	synonymous_variant	147719	exon4			GCCCACAACTCCC	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.228T>C	19.37:g.42342319A>G		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	30	30	1	NM_173506	Q8IYW0	Silent	SNP	ENST00000330743.3	37	CCDS12587.1																																																																																			A|0.389;G|0.611	0.611	strong		0.577	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		G	42342319	A	G	42342319	2	3	22	1	0	0	0	0	0	0	0	1	9112	117	5	2		2	LYPD4	19	42342319	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	81622	42342319	16786664	9902	15010										
LYPD4	147719	hgsc.bcm.edu	37	chr19	42343355	42343355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtctcaaatgctggggtCccatggccctgtgtctgggt	13	11	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42343355C>G	ENST00000330743.3	-	2	1216	c.5G>C	c.(4-6)gGa>gCa	p.G2A	LYPD4_ENST00000343055.4_Missense_Mutation_p.G2A|LYPD4_ENST00000601246.1_Missense_Mutation_p.G2A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	2						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATGCTGGGGTCCCATGGCCCT	0.542																																					p.G2A		Atlas-SNP	.											.	LYPD4	30	.	0			c.G5C						PASS	.						123	117	119					19																	42343355		2203	4300	6503	SO:0001583	missense	147719	exon2			TGGGGTCCCATGG	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.5G>C	19.37:g.42343355C>G	ENSP00000328737:p.Gly2Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	102	49	0.480392	NM_173506	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255112	0.39896	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13657	3.41;2.57	3.9	2.83	0.33086	.	0.430475	0.17224	N	0.182217	T	0.13030	0.0316	L	0.46157	1.445	0.23827	N	0.996738	P;P	0.49961	0.93;0.793	P;B	0.44477	0.451;0.264	T	0.12708	-1.0537	10	0.23302	T	0.38	-2.1155	8.5663	0.33543	0.241:0.759:0.0:0.0	.	2;2	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	A	2	ENSP00000328737:G2A;ENSP00000339568:G2A	ENSP00000328737:G2A	G	-	2	0	LYPD4	47035195	0.988000	0.35896	0.975000	0.42487	0.942000	0.58702	0.660000	0.25009	1.156000	0.42514	0.551000	0.68910	GGA	.	.	none		0.542	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		G	42343355	C	G	42343355	3	3	22	1	0	0	0	0	1	0	0	0	9112	855	30	4	751	4	LYPD4	19	42343355	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1036	42343355	16785628	9903	15011										
DMRTC2	63946	hgsc.bcm.edu	37	chr19	42354629	42354629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctggcccggacatctggTccctcagagtggcagctgca	13	14	2	1	rs2305809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42354629T>C	ENST00000269945.3	+	8	903	c.852T>C	c.(850-852)ggT>ggC	p.G284G	DMRTC2_ENST00000596827.1_Silent_p.G335G	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	284	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGACATCTGGTCCCTCAGAGT	0.627													C|||	3047	0.608427	0.916	0.572	5008	,	,		16805	0.5258		0.4702	False		,,,				2504	0.4458				p.G284G		Atlas-SNP	.											.	DMRTC2	31	.	0			c.T852C						PASS	.	C		3676,730	288.4+/-279.8	1545,586,72	44	51	48		852	2.3	0.3	19	dbSNP_100	48	4114,4486	575.9+/-390.3	963,2188,1149	no	coding-synonymous	DMRTC2	NM_001040283.1		2508,2774,1221	CC,CT,TT		47.8372,16.5683,40.1046		284/368	42354629	7790,5216	2203	4300	6503	SO:0001819	synonymous_variant	63946	exon8			ATCTGGTCCCTCA	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.852T>C	19.37:g.42354629T>C		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_001040283	Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	CCDS33034.1																																																																																			T|0.398;C|0.602	0.602	strong		0.627	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		C	42354629	T	C	42354629	2	2	22	1	0	0	0	0	0	0	0	1	4591	1654	58	2		2	DMRTC2	19	42354629	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11274	42354629	16774354	9904	15012										
ARHGEF1	9138	hgsc.bcm.edu	37	chr19	42392310	42392310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggttcccgtcagcatcatCggggctgaggatgaggattt	14	9	2	2	rs2288509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42392310C>T	ENST00000354532.3	+	3	220	c.72C>T	c.(70-72)atC>atT	p.I24I	ARHGEF1_ENST00000378152.4_Silent_p.I39I|ARHGEF1_ENST00000337665.4_Silent_p.I39I|ARHGEF1_ENST00000347545.4_Silent_p.I24I|ARHGEF1_ENST00000599846.1_Silent_p.I24I|ARHGEF1_ENST00000596957.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	24					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I39I(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCAGCATCATCGGGGCTGAGG	0.637													c|||	1338	0.267173	0.6762	0.0663	5008	,	,		16808	0.2054		0.0139	False		,,,				2504	0.181				p.I39I		Atlas-SNP	.											ARHGEF1,colon,carcinoma,0,2	ARHGEF1	95	2	1	Substitution - coding silent(1)	stomach(1)	c.C117T						scavenged	.		,,	2464,1942	623.1+/-394.1	706,1052,445	131	146	141		72,72,117	-7.6	0.3	19	dbSNP_100	141	68,8532	39.8+/-96.3	0,68,4232	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF1	NM_004706.3,NM_198977.1,NM_199002.1	,,	706,1120,4677	TT,TC,CC		0.7907,44.0763,19.4679	,,	24/913,24/880,39/928	42392310	2532,10474	2203	4300	6503	SO:0001819	synonymous_variant	9138	exon3			CATCATCGGGGCT	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.72C>T	19.37:g.42392310C>T		Somatic	60	1	0.0166667		WXS	Illumina HiSeq	Phase_I	77	77	1	NM_199002	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	CCDS12591.1																																																																																			C|0.782;T|0.218	0.218	strong		0.637	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		T	42392310	C	T	42392310	2	4	22	1	0	0	0	0	0	0	0	1	893	874	31	1		1	ARHGEF1	19	42392310	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37681	42392310	16736673	9905	15013										
GRIK5	2901	hgsc.bcm.edu	37	chr19	42560893	42560893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacaaactcagggtagaagGggtgggacgtgttgaacatg	17	5	1	2	rs139340543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42560893G>A	ENST00000262895.3	-	7	823	c.824C>T	c.(823-825)cCc>cTc	p.P275L	GRIK5_ENST00000593562.1_Missense_Mutation_p.P275L|GRIK5_ENST00000301218.4_Missense_Mutation_p.P275L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	275					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AGGGTAGAAGGGGTGGGACGT	0.577													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.0				p.P275L		Atlas-SNP	.											.	GRIK5	220	.	0			c.C824T						PASS	.	G	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	135	120	125		824	4.9	1	19	dbSNP_134	125	0,8600		0,0,4300	yes	missense	GRIK5	NM_002088.3	98	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging	275/981	42560893	7,12999	2203	4300	6503	SO:0001583	missense	2901	exon7			TAGAAGGGGTGGG		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.824C>T	19.37:g.42560893G>A	ENSP00000262895:p.Pro275Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	122	54	0.442623	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.6	4.178464	0.78564	0.001589	0.0	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.84873	-1.91;-1.91	4.93	4.93	0.64822	Extracellular ligand-binding receptor (1);	0.073753	0.53938	D	0.000048	D	0.88209	0.6375	M	0.64170	1.965	0.80722	D	1	B	0.33637	0.42	P	0.45138	0.471	D	0.88944	0.3382	10	0.72032	D	0.01	.	17.2807	0.87127	0.0:0.0:1.0:0.0	.	275	Q16478	GRIK5_HUMAN	L	275	ENSP00000262895:P275L;ENSP00000301218:P275L	ENSP00000262895:P275L	P	-	2	0	GRIK5	47252733	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.555000	0.82223	2.442000	0.82660	0.467000	0.42956	CCC	G|0.999;A|0.001	0.001	strong		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42560893	G	A	42560893	3	1	22	1	0	0	0	0	1	0	0	0	6777	1232	43	2	2170	2	GRIK5	19	42560893	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	168583	42560893	16568090	9906	15014										
CIC	23152	hgsc.bcm.edu	37	chr19	42794829	42794831	+	In_Frame_Del	DEL	AAG	AAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactggtgctgcccccaaacAaggaggagcaagagggcggc					rs587778196		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42794829_42794831delAAG	ENST00000575354.2	+	10	1949_1951	c.1909_1911delAAG	c.(1909-1911)aagdel	p.K637del	CIC_ENST00000572681.2_In_Frame_Del_p.K1546del|CIC_ENST00000160740.3_In_Frame_Del_p.K637del	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	637	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCCAAACAAGGAGGAGCAAG	0.695			"Mis, F, S"		oligodendroglioma																																p.636_637del		Pindel,Atlas-Indel	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249	.	0			c.1908_1910del						PASS	.																																			SO:0001651	inframe_deletion	23152	exon10			.	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1909_1911delAAG	19.37:g.42794829_42794831delAAG	ENSP00000458663:p.Lys637del	Somatic	87	.	.		WXS	Illumina HiSeq	Phase_I	107	33	0.308	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	In_Frame_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																			.	.	none		0.695	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			-	42794831	AAG	-	42794829	7	5	22	1	0	1	0	1	0	0	0	0	3424	131	5	0	1947	0	CIC	19	42794829	In_Frame_Del	DEL	AAG	TCGA-G8-6324-01A-11D-2210-10	233936	42794829	16334154	9907	15015										
CIC	23152	hgsc.bcm.edu	37	chr19	42795554	42795554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaacggcaaagtcctggcTgccactgcacccactcctgg	9	17	0	0	rs10410185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42795554T>C	ENST00000575354.2	+	10	2674	c.2634T>C	c.(2632-2634)gcT>gcC	p.A878A	CIC_ENST00000572681.2_Silent_p.A1787A|CIC_ENST00000160740.3_Silent_p.A878A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	878	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGTCCTGGCTGCCACTGCAC	0.692			"Mis, F, S"		oligodendroglioma								C|||	435	0.086861	0.087	0.0951	5008	,	,		15967	0.0536		0.0586	False		,,,				2504	0.1442				p.A878A		Atlas-SNP	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249	.	0			c.T2634C						PASS	.	C		320,4026		10,300,1863	47	41	43		2634	-5.3	0.7	19	dbSNP_119	43	450,8094		14,422,3836	no	coding-synonymous	CIC	NM_015125.3		24,722,5699	CC,CT,TT		5.2669,7.3631,5.9736		878/1609	42795554	770,12120	2173	4272	6445	SO:0001819	synonymous_variant	23152	exon10			CCTGGCTGCCACT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2634T>C	19.37:g.42795554T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	132	71	0.537879	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	CCDS12601.1																																																																																			T|0.924;C|0.076	0.076	strong		0.692	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			C	42795554	T	C	42795554	2	2	22	1	0	0	0	0	0	0	0	1	3424	1567	55	3		3	CIC	19	42795554	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	725	42795554	16333429	9908	15016										
MEGF8	1954	hgsc.bcm.edu	37	chr19	42853782	42853782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatccagggccagctcaaTggctcggcaggccctgggca	15	13	1	1	rs28621009	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42853782T>C	ENST00000251268.6	+	14	2430	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	MEGF8_ENST00000334370.4_Silent_p.N743N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	810					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGCTCAATGGCTCGGCAG	0.647													C|||	833	0.166334	0.354	0.1254	5008	,	,		15678	0.0645		0.0586	False		,,,				2504	0.1575				p.N810N		Atlas-SNP	.											.	MEGF8	358	.	0			c.T2430C						PASS	.	C		1445,2961	674.5+/-402.9	241,963,999	60	62	62		2229	-9.1	0.5	19	dbSNP_125	62	471,8129	794.0+/-407.5	12,447,3841	no	coding-synonymous	MEGF8	NM_001410.2		253,1410,4840	CC,CT,TT		5.4767,32.7962,14.7317		743/2779	42853782	1916,11090	2203	4300	6503	SO:0001819	synonymous_variant	1954	exon14			GCTCAATGGCTCG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2430T>C	19.37:g.42853782T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	57	31	0.54386	NM_001271938	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																				T|0.835;C|0.165	0.165	strong		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		C	42853782	T	C	42853782	2	2	22	1	0	0	0	0	0	0	0	1	9463	1461	51	2		2	MEGF8	19	42853782	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	58228	42853782	16275201	9909	15017										
MEGF8	1954	hgsc.bcm.edu	37	chr19	42863035	42863035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttccgggaagtcaggaagAagatggctctgtgggctgct	17	7	2	2	rs1206038	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42863035A>G	ENST00000251268.6	+	30	5272	c.5272A>G	c.(5272-5274)Aag>Gag	p.K1758E	MEGF8_ENST00000334370.4_Missense_Mutation_p.K1691E	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1758					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTCAGGAAGAAGATGGCTCT	0.562													G|||	549	0.109625	0.1543	0.1009	5008	,	,		14115	0.0645		0.0567	False		,,,				2504	0.1564				p.K1758E		Atlas-SNP	.											.	MEGF8	358	.	0			c.A5272G						PASS	.	G	GLU/LYS	616,3790	760.6+/-413.0	52,512,1639	57	55	55		5071	1.9	0	19	dbSNP_87	55	463,8137	792.1+/-407.5	12,439,3849	yes	missense	MEGF8	NM_001410.2	56	64,951,5488	GG,GA,AA		5.3837,13.9809,8.2962	benign	1691/2779	42863035	1079,11927	2203	4300	6503	SO:0001583	missense	1954	exon30			AGGAAGAAGATGG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5272A>G	19.37:g.42863035A>G	ENSP00000251268:p.Lys1758Glu	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	239	123	0.514644	NM_001271938	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		210	0.09615384615384616	94	0.1910569105691057	43	0.11878453038674033	28	0.04895104895104895	45	0.059366754617414245	G	3.628	-0.076126	0.07184	0.139809	0.053837	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20332	2.08;2.08	3.33	1.91	0.25777	Galactose oxidase/kelch, beta-propeller (1);	0.716490	0.10923	N	0.619185	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42310	-0.9459	9	0.28530	T	0.3	-0.6821	4.8396	0.13483	0.4425:0.0:0.5575:0.0	rs1206038;rs56716653;rs1206038	1758;1691	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	E	1691;1758	ENSP00000334219:K1691E;ENSP00000251268:K1758E	ENSP00000251268:K1758E	K	+	1	0	MEGF8	47554875	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.070000	0.11523	-0.050000	0.13356	-0.355000	0.07637	AAG	A|0.900;G|0.100	0.100	strong		0.562	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		G	42863035	A	G	42863035	3	3	22	1	0	0	0	0	1	0	0	0	9463	247	9	2	5185	2	MEGF8	19	42863035	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9253	42863035	16265948	9910	15018										
MEGF8	1954	hgsc.bcm.edu	37	chr19	42873089	42873089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccacgactgcaacgagacGcagaattgccacgaccagcc	9	16	0	2	rs10425783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42873089G>A	ENST00000251268.6	+	37	6576	c.6576G>A	c.(6574-6576)acG>acA	p.T2192T	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.T2125T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2192	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCAACGAGACGCAGAATTGCC	0.662													G|||	133	0.0265575	0.093	0.0115	5008	,	,		17876	0.0		0.002	False		,,,				2504	0.0				p.T2192T		Atlas-SNP	.											.	MEGF8	358	.	0			c.G6576A						PASS	.	G		335,4071	176.9+/-206.0	17,301,1885	82	84	83		6375	-9.5	0	19	dbSNP_119	83	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	MEGF8	NM_001410.2		17,311,6175	AA,AG,GG		0.1163,7.6033,2.6526		2125/2779	42873089	345,12661	2203	4300	6503	SO:0001819	synonymous_variant	1954	exon37			CGAGACGCAGAAT	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6576G>A	19.37:g.42873089G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	89	48	0.539326	NM_001271938	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																				G|0.969;A|0.031	0.031	strong		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42873089	G	A	42873089	2	1	22	1	0	0	0	0	0	0	0	1	9463	1074	38	1		1	MEGF8	19	42873089	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10054	42873089	16255894	9911	15019										
MEGF8	1954	hgsc.bcm.edu	37	chr19	42874900	42874900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaagacgaggccgtgtgCgtgaactgccagaataacag	14	8	0	4	rs28483598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42874900C>T	ENST00000251268.6	+	40	7053	c.7053C>T	c.(7051-7053)tgC>tgT	p.C2351C	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Silent_p.C2284C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2351					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGCCGTGTGCGTGAACTGCC	0.562													C|||	92	0.0183706	0.0635	0.0072	5008	,	,		10552	0.001		0.002	False		,,,				2504	0.0				p.C2351C		Atlas-SNP	.											.	MEGF8	358	.	0			c.C7053T						PASS	.	C		213,4191		7,199,1996	65	56	59		6852	-2.4	1	19	dbSNP_125	59	10,8586		0,10,4288	no	coding-synonymous	MEGF8	NM_001410.2		7,209,6284	TT,TC,CC		0.1163,4.8365,1.7154		2284/2779	42874900	223,12777	2202	4298	6500	SO:0001819	synonymous_variant	1954	exon40			CGTGTGCGTGAAC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7053C>T	19.37:g.42874900C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	144	82	0.569444	NM_001271938	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																				C|0.981;T|0.019	0.019	strong		0.562	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42874900	C	T	42874900	2	4	22	1	0	0	0	0	0	0	0	1	9463	776	27	1		1	MEGF8	19	42874900	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1811	42874900	16254083	9912	15020										
LIPE	3991	hgsc.bcm.edu	37	chr19	42906914	42906914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accctcggggaaggcggcacGgacgcccaggcctctgtcca	14	16	1	0	rs7246232	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42906914G>T	ENST00000244289.4	-	9	3088	c.2812C>A	c.(2812-2814)Cgt>Agt	p.R938S	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	938			R -> S (in dbSNP:rs7246232). {ECO:0000269|Ref.3}.		cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGGCGGCACGGACGCCCAGG	0.602													G|||	101	0.0201677	0.0711	0.0072	5008	,	,		16054	0.0		0.002	False		,,,				2504	0.0				p.R938S		Atlas-SNP	.											.	LIPE	83	.	0			c.C2812A						PASS	.	G	SER/ARG	227,4179	135.7+/-171.8	6,215,1982	72	61	64		2812	-10.8	0	19	dbSNP_116	64	11,8589	8.4+/-32.0	0,11,4289	yes	missense	LIPE	NM_005357.2	110	6,226,6271	TT,TG,GG		0.1279,5.1521,1.8299	benign	938/1077	42906914	238,12768	2203	4300	6503	SO:0001583	missense	3991	exon9			CGGCACGGACGCC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2812C>A	19.37:g.42906914G>T	ENSP00000244289:p.Arg938Ser	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	122	57	0.467213	NM_005357	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	49	0.022435897435897436	44	0.08943089430894309	3	0.008287292817679558	0	0.0	2	0.002638522427440633	G	6.053	0.378025	0.11466	0.051521	0.001279	ENSG00000079435	ENST00000244289	T	0.03272	3.99	5.38	-10.8	0.00216	.	1.425700	0.04445	N	0.371619	T	0.00109	0.0003	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.33727	-0.9857	10	0.26408	T	0.33	5.9579	9.2186	0.37362	0.0796:0.1474:0.6138:0.1592	rs7246232;rs56962270;rs7246232	938	Q05469	LIPS_HUMAN	S	938	ENSP00000244289:R938S	ENSP00000244289:R938S	R	-	1	0	LIPE	47598754	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.465000	0.00995	-3.013000	0.00272	-1.669000	0.00746	CGT	G|0.970;T|0.030	0.030	strong		0.602	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42906914	G	T	42906914	3	4	22	1	0	0	0	0	1	0	0	0	8821	1116	39	4	426	4	LIPE	19	42906914	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32014	42906914	16222069	9913	15021										
LIPE	3991	hgsc.bcm.edu	37	chr19	42910416	42910416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggctgcagcattgtggcCgggtaggctgccatgatgcc	16	11	0	1	rs28657829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42910416C>T	ENST00000244289.4	-	7	2538	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	754					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCATTGTGGCCGGGTAGGCTG	0.662													C|||	103	0.0205671	0.0726	0.0072	5008	,	,		14500	0.0		0.002	False		,,,				2504	0.0				p.P754P		Atlas-SNP	.											LIPE,rectum,carcinoma,-1,1	LIPE	83	1	0			c.G2262A						PASS	.	C		229,4177	131.4+/-167.9	6,217,1980	47	45	45		2262	-10.2	0.1	19	dbSNP_125	45	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	LIPE	NM_005357.2		6,227,6270	TT,TC,CC		0.1163,5.1975,1.8376		754/1077	42910416	239,12767	2203	4300	6503	SO:0001819	synonymous_variant	3991	exon7			TGTGGCCGGGTAG	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2262G>A	19.37:g.42910416C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	124	56	0.451613	NM_005357	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																			C|0.978;T|0.022	0.022	strong		0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42910416	C	T	42910416	2	4	22	1	0	0	0	0	0	0	0	1	8821	639	23	1		1	LIPE	19	42910416	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3502	42910416	16218567	9914	15022										
LIPE	3991	hgsc.bcm.edu	37	chr19	42931004	42931004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcagcaccctttggatgtAaggtgattgctgtggtgcgg	16	7	0	1	rs16975750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:42931004A>G	ENST00000244289.4	-	1	574	c.298T>C	c.(298-300)Tac>Cac	p.Y100H	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	100			Y -> H (in dbSNP:rs16975750). {ECO:0000269|Ref.3}.		cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTTTGGATGTAAGGTGATTGC	0.502													G|||	393	0.0784744	0.2799	0.0288	5008	,	,		19320	0.0		0.003	False		,,,				2504	0.0				p.Y100H		Atlas-SNP	.											.	LIPE	83	.	0			c.T298C						PASS	.	G	HIS/TYR	997,3409	730.3+/-410.1	128,741,1334	167	172	171		298	-1.8	0	19	dbSNP_123	171	18,8582	818.6+/-406.8	0,18,4282	yes	missense	LIPE	NM_005357.2	83	128,759,5616	GG,GA,AA		0.2093,22.6282,7.8041	benign	100/1077	42931004	1015,11991	2203	4300	6503	SO:0001583	missense	3991	exon1			GGATGTAAGGTGA	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.298T>C	19.37:g.42931004A>G	ENSP00000244289:p.Tyr100His	Somatic	434	1	0.00230415		WXS	Illumina HiSeq	Phase_I	434	193	0.4447	NM_005357	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	152	0.0695970695970696	136	0.2764227642276423	13	0.03591160220994475	0	0.0	3	0.00395778364116095	G	0.044	-1.272008	0.01421	0.226282	0.002093	ENSG00000079435	ENST00000244289	T	0.21361	2.01	4.4	-1.76	0.08006	.	0.581795	0.14398	N	0.322096	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42327	-0.9458	9	0.12430	T	0.62	-3.0127	1.9171	0.03299	0.4826:0.1392:0.2367:0.1415	rs16975750;rs52836316;rs58365984;rs16975750	100	Q05469	LIPS_HUMAN	H	100	ENSP00000244289:Y100H	ENSP00000244289:Y100H	Y	-	1	0	LIPE	47622844	0.018000	0.18449	0.025000	0.17156	0.087000	0.18053	-0.426000	0.07008	-0.446000	0.07149	-0.213000	0.12676	TAC	A|0.915;G|0.085	0.085	strong		0.502	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		G	42931004	A	G	42931004	3	3	22	1	0	0	0	0	1	0	0	0	8821	362	13	2	2972	2	LIPE	19	42931004	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20588	42931004	16197979	9915	15023										
CEACAM1	634	hgsc.bcm.edu	37	chr19	43031369	43031369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcttgttgagttcctattGcatatcctacaatttgacgg	8	8	0	2	rs8110904	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43031369G>A	ENST00000161559.6	-	2	382	c.248C>T	c.(247-249)gCa>gTa	p.A83V	CEACAM1_ENST00000358394.3_Missense_Mutation_p.A83V|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A43V|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A83V|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A83V|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A83V|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A83V|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A83V|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	83	Ig-like V-type.		A -> V (in dbSNP:rs8110904). {ECO:0000269|Ref.9}.		angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGTTCCTATTGCATATCCTAC	0.507													a|||	526	0.105032	0.3707	0.0447	5008	,	,		20268	0.0		0.005	False		,,,				2504	0.0				p.A83V		Atlas-SNP	.											.	CEACAM1	43	.	0			c.C248T						PASS	.	A	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1359,3047		96,1167,940	318	255	276		248,248,248,248,248,248	-6.2	0	19	dbSNP_116	276	22,8578		0,22,4278	yes	missense,missense,missense,missense,missense,missense	CEACAM1	NM_001024912.2,NM_001184813.1,NM_001184815.1,NM_001184816.1,NM_001205344.1,NM_001712.4	64,64,64,64,64,64	96,1189,5218	AA,AG,GG		0.2558,30.8443,10.6182	benign,benign,benign,benign,benign,benign	83/465,83/431,83/462,83/369,83/469,83/527	43031369	1381,11625	2203	4300	6503	SO:0001583	missense	634	exon2			CCTATTGCATATC	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.248C>T	19.37:g.43031369G>A	ENSP00000161559:p.Ala83Val	Somatic	449	1	0.00222717		WXS	Illumina HiSeq	Phase_I	456	238	0.52193	NM_001184816	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	199	0.09111721611721611	176	0.35772357723577236	18	0.049723756906077346	0	0.0	5	0.006596306068601583	a	0.459	-0.889785	0.02511	0.308443	0.002558	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	3.76	-6.23	0.02052	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00053	-2.39	0.80722	P	0.0	B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.08055	0.002;0.001;0.0;0.001;0.001;0.003;0.002;0.001;0.001;0.001	T	0.04140	-1.0974	8	0.02654	T	1	.	2.5662	0.04784	0.2081:0.1227:0.4308:0.2384	rs8110904;rs10408262;rs12979523;rs60053543;rs8110904	83;83;83;83;83;83;83;83;83;83	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	V	83;83;83;110;43;83;83;83;43;83;83;83	ENSP00000161559:A83V;ENSP00000351165:A83V;ENSP00000325946:A83V;ENSP00000244291:A83V;ENSP00000384709:A83V;ENSP00000384083:A83V;ENSP00000312184:A43V	ENSP00000161559:A83V	A	-	2	0	CEACAM1	47723209	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.328000	0.00510	-2.234000	0.00715	-0.361000	0.07541	GCA	G|0.900;A|0.100	0.100	strong		0.507	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031369	G	A	43031369	3	1	22	1	0	0	0	0	1	0	0	0	3187	1319	46	2	1461	2	CEACAM1	19	43031369	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100365	43031369	16097614	9916	15024										
CEACAM1	634	hgsc.bcm.edu	37	chr19	43031514	43031514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catggattcagtagtgagctGggcagtggtgggcgggttcc	18	7	1	1	rs8111171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43031514G>T	ENST00000161559.6	-	2	237	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q35K|CEACAM1_ENST00000308072.4_5'UTR|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q35K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q35K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q35K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q35K|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q35K|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	35	Ig-like V-type.		Q -> K (in dbSNP:rs8111171). {ECO:0000269|Ref.9}.		angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTAGTGAGCTGGGCAGTGGTG	0.502													g|||	596	0.11901	0.4228	0.0461	5008	,	,		19075	0.0		0.005	False		,,,				2504	0.0				p.Q35K		Atlas-SNP	.											.	CEACAM1	43	.	0			c.C103A						PASS	.	G	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	1556,2850	488.5+/-361.2	290,976,937	140	134	136		103,103,103,103,103,103	-0.2	0	19	dbSNP_116	136	22,8578	12.6+/-44.7	0,22,4278	yes	missense,missense,missense,missense,missense,missense	CEACAM1	NM_001024912.2,NM_001184813.1,NM_001184815.1,NM_001184816.1,NM_001205344.1,NM_001712.4	53,53,53,53,53,53	290,998,5215	TT,TG,GG		0.2558,35.3155,12.1329	benign,benign,benign,benign,benign,benign	35/465,35/431,35/462,35/369,35/469,35/527	43031514	1578,11428	2203	4300	6503	SO:0001583	missense	634	exon2			TGAGCTGGGCAGT	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.103C>A	19.37:g.43031514G>T	ENSP00000161559:p.Gln35Lys	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	219	124	0.56621	NM_001184816	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	220	0.10073260073260074	196	0.3983739837398374	19	0.052486187845303865	0	0.0	5	0.006596306068601583	g	11.90	1.776621	0.31411	0.353155	0.002558	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.01647	4.71;4.71;4.71;4.71;4.71;4.71	3.6	-0.184	0.13280	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.49778	1.585	0.58432	P	2.9999999999752447E-6	B;B;B;B;B;B;B;B;B;B	0.22983	0.004;0.009;0.001;0.001;0.002;0.001;0.039;0.009;0.078;0.047	B;B;B;B;B;B;B;B;B;B	0.20184	0.006;0.003;0.005;0.003;0.002;0.004;0.028;0.008;0.015;0.027	T	0.36065	-0.9763	8	0.38643	T	0.18	.	6.2066	0.20606	0.0:0.3764:0.4131:0.2105	rs8111171;rs59246809	35;35;35;35;35;35;35;35;35;35	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	K	35;35;35;62;35;35;35;35;35;35	ENSP00000161559:Q35K;ENSP00000351165:Q35K;ENSP00000325946:Q35K;ENSP00000244291:Q35K;ENSP00000384709:Q35K;ENSP00000384083:Q35K	ENSP00000161559:Q35K	Q	-	1	0	CEACAM1	47723354	0.691000	0.27709	0.001000	0.08648	0.306000	0.27790	0.186000	0.16978	0.061000	0.16311	0.491000	0.48974	CAG	G|0.888;T|0.112	0.112	strong		0.502	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		T	43031514	G	T	43031514	3	4	22	1	0	0	0	0	1	0	0	0	3187	1357	47	4	1606	4	CEACAM1	19	43031514	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145	43031514	16097469	9917	15025										
CEACAM8	1088	hgsc.bcm.edu	37	chr19	43087428	43087428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaccctggccagtactccAatcatgatgctgacagtggc	10	14	1	2	rs8103051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43087428A>C	ENST00000244336.5	-	5	1121	c.1020T>G	c.(1018-1020)atT>atG	p.I340M	CEACAM8_ENST00000599005.1_Missense_Mutation_p.I42M|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	340			I -> M (in dbSNP:rs8103051).		immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGTACTCCAATCATGATGC	0.458													A|||	359	0.0716853	0.2572	0.0231	5008	,	,		21532	0.0		0.003	False		,,,				2504	0.0				p.I340M		Atlas-SNP	.											.	CEACAM8	44	.	0			c.T1020G						PASS	.	A	MET/ILE	878,3528	342.0+/-307.0	92,694,1417	99	89	93		1020	0.6	0.1	19	dbSNP_116	93	18,8582	10.5+/-38.8	0,18,4282	no	missense	CEACAM8	NM_001816.3	10	92,712,5699	CC,CA,AA		0.2093,19.9274,6.8891	probably-damaging	340/350	43087428	896,12110	2203	4300	6503	SO:0001583	missense	1088	exon5			TACTCCAATCATG	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.1020T>G	19.37:g.43087428A>C	ENSP00000244336:p.Ile340Met	Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	318	157	0.493711	NM_001816	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	124	0.056776556776556776	110	0.22357723577235772	11	0.03038674033149171	0	0.0	3	0.00395778364116095	a	11.22	1.574497	0.28092	0.199274	0.002093	ENSG00000124469	ENST00000244336	T	0.21734	1.99	1.7	0.575	0.17374	.	.	.	.	.	T	0.00039	0.0001	M	0.78049	2.395	0.80722	P	0.0	D	0.76494	0.999	D	0.63488	0.915	T	0.05750	-1.0866	8	0.87932	D	0	.	3.7257	0.08474	0.6637:0.0:0.0:0.3363	rs8103051;rs8103051	340	P31997	CEAM8_HUMAN	M	340	ENSP00000244336:I340M	ENSP00000244336:I340M	I	-	3	3	CEACAM8	47779268	0.002000	0.14202	0.069000	0.20011	0.113000	0.19764	-0.125000	0.10579	0.101000	0.17610	0.254000	0.18369	ATT	A|0.937;C|0.063	0.063	strong		0.458	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			C	43087428	A	C	43087428	3	2	22	1	0	0	0	0	1	0	0	0	3198	126	5	5	33	5	CEACAM8	19	43087428	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	55914	43087428	16041555	9918	15026										
CEACAM8	1088	hgsc.bcm.edu	37	chr19	43093718	43093718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactgagtagagtgagggtCctgttgccattggacagctg	14	8	0	3	rs10413332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43093718C>T	ENST00000244336.5	-	3	695	c.594G>A	c.(592-594)agG>agA	p.R198R	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	198	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAGTGAGGGTCCTGTTGCCAT	0.522													C|||	355	0.0708866	0.2542	0.0231	5008	,	,		18633	0.0		0.003	False		,,,				2504	0.0				p.R198R		Atlas-SNP	.											.	CEACAM8	44	.	0			c.G594A						PASS	.	C		874,3532	341.2+/-306.6	92,690,1421	271	241	251		594	1.3	0.6	19	dbSNP_119	251	18,8582	10.5+/-38.8	0,18,4282	no	coding-synonymous	CEACAM8	NM_001816.3		92,708,5703	TT,TC,CC		0.2093,19.8366,6.8584		198/350	43093718	892,12114	2203	4300	6503	SO:0001819	synonymous_variant	1088	exon3			GAGGGTCCTGTTG	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.594G>A	19.37:g.43093718C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	291	123	0.42268	NM_001816	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																			C|0.938;T|0.062	0.062	strong		0.522	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			T	43093718	C	T	43093718	2	4	22	1	0	0	0	0	0	0	0	1	3198	854	30	2		2	CEACAM8	19	43093718	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6290	43093718	16035265	9919	15027										
CEACAM8	1088	hgsc.bcm.edu	37	chr19	43093793	43093793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccaccacaggtaggttgtGttctgagtctcaggttcaca	10	11	3	1	rs10418988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43093793G>A	ENST00000244336.5	-	3	620	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	173	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGTAGGTTGTGTTCTGAGTCT	0.567													G|||	102	0.0203674	0.0719	0.0072	5008	,	,		17179	0.0		0.002	False		,,,				2504	0.0				p.N173N		Atlas-SNP	.											.	CEACAM8	44	.	0			c.C519T						PASS	.	G		240,4166	141.5+/-176.9	6,228,1969	220	192	201		519	1.4	0.5	19	dbSNP_119	201	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous	CEACAM8	NM_001816.3		6,239,6258	AA,AG,GG		0.1279,5.4471,1.9299		173/350	43093793	251,12755	2203	4300	6503	SO:0001819	synonymous_variant	1088	exon3			GGTTGTGTTCTGA	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.519C>T	19.37:g.43093793G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	231	104	0.450216	NM_001816	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																			G|0.977;A|0.023	0.023	strong		0.567	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			A	43093793	G	A	43093793	2	1	22	1	0	0	0	0	0	0	0	1	3198	1368	48	2		2	CEACAM8	19	43093793	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75	43093793	16035190	9920	15028										
CEACAM8	1088	hgsc.bcm.edu	37	chr19	43098931	43098931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcacctgtgagcaggagcCcctgccaggggatgcgccat	13	15	1	1	rs28367882	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43098931C>A	ENST00000244336.5	-	1	151	c.50G>T	c.(49-51)gGg>gTg	p.G17V	CEACAM8_ENST00000599005.1_Missense_Mutation_p.G17V|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	17			G -> V (in dbSNP:rs28367882).		immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAGCAGGAGCCCCTGCCAGGG	0.632													.|||	355	0.0708866	0.2542	0.0231	5008	,	,		18261	0.0		0.003	False		,,,				2504	0.0				p.G17V		Atlas-SNP	.											.	CEACAM8	44	.	0			c.G50T						PASS	.	C	VAL/GLY	873,3533	340.5+/-306.2	92,689,1422	102	95	97		50	-0.8	0	19	dbSNP_125	97	18,8582	10.5+/-38.8	0,18,4282	no	missense	CEACAM8	NM_001816.3	109	92,707,5704	AA,AC,CC		0.2093,19.8139,6.8507	possibly-damaging	17/350	43098931	891,12115	2203	4300	6503	SO:0001583	missense	1088	exon1			AGGAGCCCCTGCC	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.50G>T	19.37:g.43098931C>A	ENSP00000244336:p.Gly17Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	64	33	0.515625	NM_001816	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	124	0.056776556776556776	110	0.22357723577235772	11	0.03038674033149171	0	0.0	3	0.00395778364116095	c	6.456	0.452336	0.12283	0.198139	0.002093	ENSG00000124469	ENST00000244336	T	0.21031	2.03	1.48	-0.838	0.10762	.	.	.	.	.	T	0.00012	0.0000	M	0.88704	2.975	0.80722	P	0.0	P	0.40000	0.698	P	0.46758	0.526	T	0.05716	-1.0868	8	0.72032	D	0.01	.	4.0532	0.09804	0.0:0.5677:0.0:0.4323	rs28367882;rs59229803	17	P31997	CEAM8_HUMAN	V	17	ENSP00000244336:G17V	ENSP00000244336:G17V	G	-	2	0	CEACAM8	47790771	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	0.062000	0.14389	-0.173000	0.10761	-0.671000	0.03813	GGG	C|0.939;A|0.061	0.061	strong		0.632	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			A	43098931	C	A	43098931	3	1	22	1	0	0	0	0	1	0	0	0	3198	623	22	4	1019	4	CEACAM8	19	43098931	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5138	43098931	16030052	9921	15029										
PSG3	5671	hgsc.bcm.edu	37	chr19	43237080	43237080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactgcaagctgtgagtcaTagggaggctctgaccattca	11	10	3	2	rs76931703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43237080T>C	ENST00000327495.5	-	3	749	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	PSG3_ENST00000595140.1_Missense_Mutation_p.M189V|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	189	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTGTGAGTCATAGGGAGGCTC	0.498													.|||	53	0.0105831	0.0378	0.0043	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0				p.M189V		Atlas-SNP	.											.	PSG3	82	.	0			c.A565G						PASS	.	T	VAL/MET	167,4239		4,159,2040	240	239	239		565	-1.4	0	19	dbSNP_131	239	1,8599		0,1,4299	yes	missense	PSG3	NM_021016.3	21	4,160,6339	CC,CT,TT		0.0116,3.7903,1.2917	benign	189/429	43237080	168,12838	2203	4300	6503	SO:0001583	missense	5671	exon3			GAGTCATAGGGAG		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.565A>G	19.37:g.43237080T>C	ENSP00000332215:p.Met189Val	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	235	116	0.493617	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	20	0.009157509157509158	19	0.03861788617886179	1	0.0027624309392265192	0	0.0	0	0.0	-	0.003	-2.475018	0.00167	0.037903	1.16E-4	ENSG00000221826	ENST00000327495	T	0.08458	3.09	1.59	-1.36	0.09085	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00524	0.0017	N	0.02275	-0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.41752	-0.9491	9	0.02654	T	1	.	4.1694	0.10322	0.0:0.5437:0.0:0.4563	.	167;189	Q08266;Q16557	.;PSG3_HUMAN	V	189	ENSP00000332215:M189V	ENSP00000332215:M189V	M	-	1	0	PSG3	47928920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.084000	0.03393	-0.464000	0.06963	-0.562000	0.04174	ATG	T|0.988;C|0.012	0.012	strong		0.498	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		C	43237080	T	C	43237080	3	2	22	1	0	0	0	0	1	0	0	0	12656	1406	49	2	737	2	PSG3	19	43237080	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	138149	43237080	15891903	9922	15030										
PSG3	5671	hgsc.bcm.edu	37	chr19	43243217	43243217	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgacttgggcagtggtaggcAagttccagaagtttaaaagt					rs34721205|rs12185496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43243217A>G	ENST00000327495.5	-	2	273	c.89T>C	c.(88-90)tTg>tCg	p.L30S	PSG3_ENST00000595140.1_Missense_Mutation_p.L30S|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	30			L -> P (in dbSNP:rs12185496). {ECO:0000269|PubMed:2302228, ECO:0000269|PubMed:2341148, ECO:0000269|PubMed:2350345, ECO:0000269|PubMed:3265688}.|L -> S (in dbSNP:rs12185496).		defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGTGGTAGGCAAGTTCCAGAA	0.483													.|||	3288	0.65655	0.8903	0.6571	5008	,	,		17929	0.4772		0.5507	False		,,,				2504	0.6339				p.L30S		Atlas-SNP	.											PSG3,NS,carcinoma,-1,1	PSG3	82	1	0			c.T89C						PASS	.	G	SER/LEU	3437,967		1552,333,317	108	141	130		89	-1.2	0	19	dbSNP_120	130	3680,4920		1246,1188,1866	yes	missense	PSG3	NM_021016.3	145	2798,1521,2183	GG,GA,AA		42.7907,21.9573,45.2707	benign	30/429	43243217	7117,5887	2202	4300	6502	SO:0001583	missense	5671	exon2			GTAGGCAAGTTCC		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.89T>C	19.37:g.43243217A>G	ENSP00000332215:p.Leu30Ser	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	217	214	0.986175	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	1098	0.5027472527472527	344	0.6991869918699187	199	0.5497237569060773	212	0.3706293706293706	343	0.4525065963060686	N	3.073	-0.190683	0.06299	0.780427	0.427907	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.39	-1.17	0.09648	.	.	.	.	.	T	0.00012	0.0000	M	0.62723	1.935	0.80722	P	0.0	B	0.06786	0.001	B	0.13407	0.009	T	0.18085	-1.0348	8	0.36615	T	0.2	.	5.7905	0.18357	0.3984:0.0:0.6016:0.0	rs12185496;rs58971165	30	Q16557	PSG3_HUMAN	S	30	ENSP00000332215:L30S	ENSP00000332215:L30S	L	-	2	0	PSG3	47935057	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-2.830000	0.00744	-0.710000	0.05001	-2.222000	0.00295	TTG	.	.	alt		0.483	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		G	43243217	A	G	43243217	3	3	22	1	0	0	0	0	1	0	0	0	12656	131	5	2	1217	2	PSG3	19	43243217	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6137	43243217	15885766	9923	15031	309	2								
PSG3	5671	hgsc.bcm.edu	37	chr19	43243218	43243218	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttgggcagtggtaggcaAgttccagaagtttaaaagta					rs34721205|rs12185497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43243218A>G	ENST00000327495.5	-	2	272	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L	PSG3_ENST00000595140.1_Silent_p.L30L|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	30			L -> P (in dbSNP:rs12185496). {ECO:0000269|PubMed:2302228, ECO:0000269|PubMed:2341148, ECO:0000269|PubMed:2350345, ECO:0000269|PubMed:3265688}.|L -> S (in dbSNP:rs12185496).		defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L30L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGGTAGGCAAGTTCCAGAAG	0.483													.|||	3288	0.65655	0.8911	0.6571	5008	,	,		18356	0.4762		0.5507	False		,,,				2504	0.6339				p.L30L		Atlas-SNP	.											PSG3,NS,carcinoma,0,1	PSG3	82	1	1	Substitution - coding silent(1)	stomach(1)	c.T88C						PASS	.	G		3417,987		1553,311,338	106	140	128		88	1.4	0	19	dbSNP_120	128	3635,4965		1246,1143,1911	no	coding-synonymous	PSG3	NM_021016.3		2799,1454,2249	GG,GA,AA		42.2674,22.4114,45.7705		30/429	43243218	7052,5952	2202	4300	6502	SO:0001819	synonymous_variant	5671	exon2			TAGGCAAGTTCCA		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.88T>C	19.37:g.43243218A>G		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	213	210	0.985915	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	CCDS12611.1																																																																																			A|0.407;G|0.593	0.593	strong		0.483	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		G	43243218	A	G	43243218	2	3	22	1	0	0	0	0	0	0	0	1	12656	69	3	3		3	PSG3	19	43243218	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	43243218	15885765	9924	15032	309	2								
PSG3	5671	hgsc.bcm.edu	37	chr19	43243238	43243238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttccagaagtttaaaagtAatgctaggaggtggagagag	14	3	0	2	rs11559136	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43243238A>G	ENST00000327495.5	-	2	252	c.68T>C	c.(67-69)tTa>tCa	p.L23S	PSG3_ENST00000595140.1_Missense_Mutation_p.L23S|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	23			L -> S (in dbSNP:rs11559136). {ECO:0000269|PubMed:2302228, ECO:0000269|PubMed:2341148, ECO:0000269|PubMed:2350345, ECO:0000269|PubMed:3265688}.		defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTTTAAAAGTAATGCTAGGAG	0.488													.|||	3290	0.656949	0.8911	0.6571	5008	,	,		18478	0.4772		0.5507	False		,,,				2504	0.635				p.L23S		Atlas-SNP	.											.	PSG3	82	.	0			c.T68C						PASS	.	G	SER/LEU	3622,780		1552,518,131	94	128	117		68	1.4	1	19	dbSNP_120	117	4533,4063		1246,2041,1011	no	missense	PSG3	NM_021016.3	145	2798,2559,1142	GG,GA,AA		47.2662,17.7192,37.2596	benign	23/429	43243238	8155,4843	2201	4298	6499	SO:0001583	missense	5671	exon2			AAAAGTAATGCTA		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.68T>C	19.37:g.43243238A>G	ENSP00000332215:p.Leu23Ser	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	177	176	0.99435	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	1226	0.5613553113553114	399	0.8109756097560976	208	0.574585635359116	224	0.3916083916083916	395	0.521108179419525	N	0.011	-1.692074	0.00731	0.822808	0.527338	ENSG00000221826	ENST00000327495	T	0.15487	2.42	1.39	1.39	0.22231	.	.	.	.	.	T	0.00012	0.0000	N	0.00020	-2.765	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	8	0.02654	T	1	.	3.985	0.09511	0.2396:0.0:0.7604:0.0	rs11559136;rs12185498;rs58832504	23	Q16557	PSG3_HUMAN	S	23	ENSP00000332215:L23S	ENSP00000332215:L23S	L	-	2	0	PSG3	47935078	0.806000	0.28996	0.977000	0.42913	0.017000	0.09413	0.257000	0.18369	0.159000	0.19401	-0.534000	0.04291	TTA	.	.	weak		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		G	43243238	A	G	43243238	3	3	22	1	0	0	0	0	1	0	0	0	12656	372	13	2	1238	2	PSG3	19	43243238	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	20	43243238	15885745	9925	15033										
PSG3	5671	hgsc.bcm.edu	37	chr19	43244485	43244485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcacctgtgagcaggaGccccttccaggtgatgcgct	11	15	1	2	rs11880551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43244485G>C	ENST00000327495.5	-	1	236	c.52C>G	c.(52-54)Ctc>Gtc	p.L18V	PSG3_ENST00000595140.1_Missense_Mutation_p.L18V|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	18					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGAGCAGGAGCCCCTTCCAG	0.607													.|||	1206	0.240815	0.6377	0.1484	5008	,	,		17909	0.0585		0.0795	False		,,,				2504	0.1237				p.L18V		Atlas-SNP	.											.	PSG3	82	.	0			c.C52G						PASS	.	G	VAL/LEU	1675,1347		477,721,313	116	135	128		52	-2	0	19	dbSNP_120	128	420,4994		11,398,2298	no	missense	PSG3	NM_021016.3	32	488,1119,2611	CC,CG,GG		7.7577,44.5731,24.834	benign	18/429	43244485	2095,6341	1511	2707	4218	SO:0001583	missense	5671	exon1			GCAGGAGCCCCTT		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.52C>G	19.37:g.43244485G>C	ENSP00000332215:p.Leu18Val	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	437	0.2000915750915751	278	0.5650406504065041	62	0.1712707182320442	31	0.05419580419580419	66	0.0870712401055409	N	4.028	0.002732	0.07866	0.554269	0.077577	ENSG00000221826	ENST00000327495	T	0.23754	1.89	1.21	-1.99	0.07457	.	.	.	.	.	T	0.00012	0.0000	L	0.31926	0.97	0.80722	P	0.0	B	0.21606	0.058	B	0.29440	0.102	T	0.44112	-0.9349	8	0.49607	T	0.09	.	2.6346	0.04954	0.229:0.3092:0.4617:0.0	rs11880551;rs60337351	18	Q16557	PSG3_HUMAN	V	18	ENSP00000332215:L18V	ENSP00000332215:L18V	L	-	1	0	PSG3	47936325	0.006000	0.16342	0.005000	0.12908	0.090000	0.18270	-0.178000	0.09782	-0.350000	0.08262	0.121000	0.15741	CTC	G|0.782;C|0.218	0.218	strong		0.607	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		C	43244485	G	C	43244485	3	2	22	1	0	0	0	0	1	0	0	0	12656	971	34	4	1258	4	PSG3	19	43244485	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1247	43244485	15884498	9926	15034										
PSG8	440533	hgsc.bcm.edu	37	chr19	43268235	43268235	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcaggcccatatataattAtttgaccgtctactacatat					rs75257969	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43268235A>C	ENST00000306511.4	-	2	360	c.263T>G	c.(262-264)aTa>aGa	p.I88R	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.I88R|PSG8_ENST00000401467.2_Missense_Mutation_p.I88R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	88	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATATATAATTATTTGACCGTC	0.443													.|||	881	0.175919	0.444	0.134	5008	,	,		22187	0.0238		0.0726	False		,,,				2504	0.1063				p.I88R		Atlas-SNP	.											.	PSG8	101	.	0			c.T263G						PASS	.	C	ARG/ILE,,ARG/ILE	1670,2736	508.4+/-367.0	332,1006,865	260	277	271		263,,263	-2.7	0	19	dbSNP_131	271	593,8005	157.3+/-211.0	22,549,3728	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	97,,97	354,1555,4593	CC,CA,AA		6.897,37.9029,17.4023	benign,,benign	88/420,,88/427	43268235	2263,10741	2203	4299	6502	SO:0001583	missense	440533	exon2			ATAATTATTTGAC	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.263T>G	19.37:g.43268235A>C	ENSP00000305005:p.Ile88Arg	Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	236	101	0.427966	NM_001130167	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	340	0.15567765567765568	214	0.4349593495934959	56	0.15469613259668508	10	0.017482517482517484	60	0.079155672823219	a	0	-2.776694	0.00080	0.379029	0.06897	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.63580	-0.05;-0.05;-0.05	1.35	-2.7	0.06004	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.05554	-0.025	0.80722	P	0.0	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.005;0.002;0.006;0.003;0.005	T	0.17623	-1.0363	8	0.07030	T	0.85	.	1.0782	0.01637	0.3869:0.2945:0.1707:0.1479	.	88;88;88;88;88	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	R	88	ENSP00000385869:I88R;ENSP00000386090:I88R;ENSP00000305005:I88R	ENSP00000305005:I88R	I	-	2	0	PSG8	47960075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.116000	0.00597	-5.032000	0.00023	-3.322000	0.00044	ATA	A|0.835;C|0.165	0.165	strong		0.443	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			C	43268235	A	C	43268235	3	2	22	1	0	0	0	0	1	0	0	0	12661	449	16	5	1054	5	PSG8	19	43268235	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23750	43268235	15860748	9927	15035	310	2								
PSG8	440533	hgsc.bcm.edu	37	chr19	43268242	43268242	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatatataattatttgacCgtctactacatatgatgtaa					rs76352186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43268242C>T	ENST00000306511.4	-	2	353	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.G86S|PSG8_ENST00000401467.2_Missense_Mutation_p.G86S	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	86	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTATTTGACCGTCTACTACA	0.433													.|||	285	0.0569089	0.1952	0.0202	5008	,	,		22232	0.0		0.006	False		,,,				2504	0.0072				p.G86S		Atlas-SNP	.											.	PSG8	101	.	0			c.G256A						PASS	.	T	SER/GLY,,SER/GLY	772,3634	311.9+/-292.3	84,604,1515	248	265	259		256,,256	-2.7	0	19	dbSNP_131	259	131,8467	67.3+/-129.8	1,129,4169	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	56,,56	85,733,5684	TT,TC,CC		1.5236,17.5216,6.944	benign,,benign	86/420,,86/427	43268242	903,12101	2203	4299	6502	SO:0001583	missense	440533	exon2			TTTGACCGTCTAC	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.256G>A	19.37:g.43268242C>T	ENSP00000305005:p.Gly86Ser	Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	233	98	0.420601	NM_001130167	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	126	0.057692307692307696	112	0.22764227642276422	8	0.022099447513812154	0	0.0	6	0.0079155672823219	c	0.005	-2.167646	0.00315	0.175216	0.015236	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.63913	-0.07;-0.07;-0.07	1.35	-2.7	0.06004	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.15975	0.35	0.80722	P	0.0	B;B;B;B;B	0.20780	0.002;0.003;0.048;0.001;0.001	B;B;B;B;B	0.23018	0.004;0.011;0.043;0.005;0.009	T	0.06303	-1.0834	8	0.08599	T	0.76	.	5.2757	0.15649	0.0:0.4599:0.1655:0.3746	.	86;86;86;86;86	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	S	86	ENSP00000385869:G86S;ENSP00000386090:G86S;ENSP00000305005:G86S	ENSP00000305005:G86S	G	-	1	0	PSG8	47960082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.991000	0.01478	-3.700000	0.00119	-2.741000	0.00127	GGT	C|0.936;T|0.064	0.064	strong		0.433	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43268242	C	T	43268242	3	4	22	1	0	0	0	0	1	0	0	0	12661	652	23	1	1061	1	PSG8	19	43268242	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	43268242	15860741	9928	15036	310	2								
PSG8	440533	hgsc.bcm.edu	37	chr19	43269686	43269686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacctgtgagcaggagcccCttccaggtgatgcgctgtgt	13	12	1	2	rs61393109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43269686C>T	ENST00000306511.4	-	1	145	c.48G>A	c.(46-48)aaG>aaA	p.K16K	PSG8_ENST00000406636.3_Silent_p.K16K|PSG8_ENST00000404209.4_Silent_p.K16K|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	16						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGAGCCCCTTCCAGGTGA	0.577													.|||	54	0.0107827	0.0386	0.0043	5008	,	,		18083	0.0		0.0	False		,,,				2504	0.0				p.K16K		Atlas-SNP	.											.	PSG8	101	.	0			c.G48A						PASS	.	C	,,	106,2916		3,100,1408	111	113	112		48,48,48	-2	0	19	dbSNP_129	112	1,5417		0,1,2708	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	,,	3,101,4116	TT,TC,CC		0.0185,3.5076,1.2678	,,	16/420,16/298,16/427	43269686	107,8333	1511	2709	4220	SO:0001819	synonymous_variant	440533	exon1			GAGCCCCTTCCAG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.48G>A	19.37:g.43269686C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	43	20	0.465116	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	CCDS33037.1																																																																																			C|0.988;T|0.012	0.012	strong		0.577	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43269686	C	T	43269686	2	4	22	1	0	0	0	0	0	0	0	1	12661	680	24	2		2	PSG8	19	43269686	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1444	43269686	15859297	9929	15037										
PSG8	440533	hgsc.bcm.edu	37	chr19	43269699	43269699	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccccttccaggtgatgCgctgtgtgcagggaggggct					rs71337226|rs7260508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43269699C>T	ENST00000306511.4	-	1	132	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG8_ENST00000406636.3_Missense_Mutation_p.R12H|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.R12H	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	12				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGGTGATGCGCTGTGTGCA	0.592													.|||	1786	0.356629	0.7315	0.2709	5008	,	,		17382	0.0903		0.3091	False		,,,				2504	0.2342				p.R12H		Atlas-SNP	.											PSG8_ENST00000404209,NS,carcinoma,-1,2	PSG8	101	2	0			c.G35A						PASS	.	T	HIS/ARG,HIS/ARG,HIS/ARG	1977,1045		665,647,199	117	118	118		35,35,35	-2.7	0	19	dbSNP_116	118	1619,3799		254,1111,1344	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	29,29,29	919,1758,1543	TT,TC,CC		29.8819,34.5797,42.6066	benign,benign,benign	12/420,12/298,12/427	43269699	3596,4844	1511	2709	4220	SO:0001583	missense	440533	exon1			GTGATGCGCTGTG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.35G>A	19.37:g.43269699C>T	ENSP00000305005:p.Arg12His	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	706	0.3232600732600733	323	0.6565040650406504	109	0.3011049723756906	45	0.07867132867132867	229	0.3021108179419525	c	2.839	-0.240996	0.05906	0.654203	0.298819	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.23348	2.18;1.91;2.19	1.35	-2.7	0.06004	.	.	.	.	.	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.34925	-0.9809	8	0.18710	T	0.47	.	7.3607	0.26745	0.0:0.5348:0.0:0.4652	rs7260508;rs60422632	12;12;12	Q9UQ74-2;Q9UQ74;A5PKV3	.;PSG8_HUMAN;.	H	12	ENSP00000385869:R12H;ENSP00000385081:R12H;ENSP00000305005:R12H	ENSP00000305005:R12H	R	-	2	0	PSG8	47961539	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.718000	0.00813	-1.864000	0.01148	-2.741000	0.00127	CGC	C|0.620;T|0.380	0.380	strong		0.592	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43269699	C	T	43269699	3	4	22	1	0	0	0	0	1	0	0	0	12661	768	27	1	1286	1	PSG8	19	43269699	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	43269699	15859284	9930	15038	311	3								
PSG8	440533	hgsc.bcm.edu	37	chr19	43269704	43269704	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttccaggtgatgcgctgTgtgcagggaggggctgagag					rs71337226|rs34129574|rs62112127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43269704T>C	ENST00000306511.4	-	1	127	c.30A>G	c.(28-30)acA>acG	p.T10T	PSG8_ENST00000406636.3_Silent_p.T10T|PSG8_ENST00000404209.4_Silent_p.T10T|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	10				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATGCGCTGTGTGCAGGGAG	0.597													.|||	1834	0.366214	0.7322	0.2781	5008	,	,		17082	0.0933		0.3241	False		,,,				2504	0.2587				p.T10T		Atlas-SNP	.											.	PSG8	101	.	0			c.A30G						PASS	.	C	,,	1742,1280		670,402,439	120	120	120		30,30,30	-1	0	19	dbSNP_129	120	1357,4061		286,785,1638	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	,,	956,1187,2077	CC,CT,TT		25.0461,42.3561,36.718	,,	10/420,10/298,10/427	43269704	3099,5341	1511	2709	4220	SO:0001819	synonymous_variant	440533	exon1			GCGCTGTGTGCAG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.30A>G	19.37:g.43269704T>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	CCDS33037.1																																																																																			T|0.624;C|0.376	0.376	strong		0.597	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			C	43269704	T	C	43269704	2	2	22	1	0	0	0	0	0	0	0	1	12661	1683	59	2		2	PSG8	19	43269704	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	43269704	15859279	9931	15039	311	3								
PSG8	440533	hgsc.bcm.edu	37	chr19	43269705	43269705	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttccaggtgatgcgctgtGtgcagggaggggctgagagg					rs71337226|rs34129574|rs7245423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43269705G>A	ENST00000306511.4	-	1	126	c.29C>T	c.(28-30)aCa>aTa	p.T10I	PSG8_ENST00000406636.3_Missense_Mutation_p.T10I|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T10I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	10				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GATGCGCTGTGTGCAGGGAGG	0.592													.|||	1787	0.356829	0.7315	0.2709	5008	,	,		17015	0.0913		0.3091	False		,,,				2504	0.2342				p.T10I		Atlas-SNP	.											.	PSG8	101	.	0			c.C29T						PASS	.	A	ILE/THR,ILE/THR,ILE/THR	1734,1288		659,416,436	121	121	121		29,29,29	-2.7	0	19	dbSNP_116	121	1261,4157		251,759,1699	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	89,89,89	910,1175,2135	AA,AG,GG		23.2743,42.6208,35.4858	probably-damaging,probably-damaging,probably-damaging	10/420,10/298,10/427	43269705	2995,5445	1511	2709	4220	SO:0001583	missense	440533	exon1			CGCTGTGTGCAGG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.29C>T	19.37:g.43269705G>A	ENSP00000305005:p.Thr10Ile	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	599	0.2742673992673993	269	0.5467479674796748	100	0.27624309392265195	40	0.06993006993006994	190	0.25065963060686014	g	5.454	0.268926	0.10349	0.573792	0.232743	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T;T	0.25749	2.18;1.78;3.3;2.19	1.35	-2.7	0.06004	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D;P;P	0.60160	0.987;0.848;0.918	P;P;P	0.56960	0.81;0.521;0.558	T	0.46512	-0.9186	8	0.56958	D	0.05	.	1.4681	0.02410	0.1869:0.268:0.387:0.1581	rs7245423;rs57041720	10;10;10	Q9UQ74-2;Q9UQ74;A5PKV3	.;PSG8_HUMAN;.	I	10	ENSP00000385869:T10I;ENSP00000385081:T10I;ENSP00000386090:T10I;ENSP00000305005:T10I	ENSP00000305005:T10I	T	-	2	0	PSG8	47961545	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.768000	0.04715	-2.180000	0.00766	-1.139000	0.01908	ACA	G|0.635;A|0.365	0.365	strong		0.592	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43269705	G	A	43269705	3	1	22	1	0	0	0	0	1	0	0	0	12661	1377	48	2	1292	2	PSG8	19	43269705	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	43269705	15859278	9932	15040	311	3								
PSG1	5669	hgsc.bcm.edu	37	chr19	43382368	43382368	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcccctcggaaactttggTtggctcggcttcaatcgtga					rs707745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43382368T>G	ENST00000436291.2	-	2	243	c.127A>C	c.(127-129)Acc>Ccc	p.T43P	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T43P|PSG1_ENST00000244296.2_Missense_Mutation_p.T43P|PSG1_ENST00000595124.1_Missense_Mutation_p.T43P|PSG1_ENST00000595356.1_Missense_Mutation_p.T43P|PSG1_ENST00000312439.6_Missense_Mutation_p.T43P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	43	Ig-like V-type.		T -> P (in dbSNP:rs707745).	EPT -> QPP (in Ref. 4, 5 and 6). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAAACTTTGGTTGGCTCGGCT	0.483													.|||	2165	0.432308	0.5325	0.4222	5008	,	,		18196	0.4276		0.2505	False		,,,				2504	0.4959				p.T43P		Atlas-SNP	.											.	PSG1	196	.	0			c.A127C						PASS	.	G	PRO/THR,PRO/THR,PRO/THR	2120,2286		620,880,703	150	170	163		127,127,127	-1	0	19	dbSNP_86	163	1996,6602		325,1346,2628	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	38,38,38	945,2226,3331	GG,GT,TT		23.2147,48.1162,31.6518	,,	43/420,43/418,43/427	43382368	4116,8888	2203	4299	6502	SO:0001583	missense	5669	exon2			CTTTGGTTGGCTC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.127A>C	19.37:g.43382368T>G	ENSP00000413041:p.Thr43Pro	Somatic	334	0	0		WXS	Illumina HiSeq	Phase_I	344	316	0.918605	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.132	-1.112920	0.01799	0.481162	0.232147	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	1.46	-1.02	0.10135	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.05414	-0.055	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.11329	0.006;0.0;0.001;0.004;0.001;0.001;0.002;0.001	T	0.34477	-0.9827	8	0.02654	T	1	.	2.9451	0.05843	0.1663:0.0:0.4037:0.43	rs707745;rs3199303;rs16976235;rs52790147;rs57621156;rs707745	43;43;43;43;43;43;43;43	O75238;P11464-4;G5E9F7;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.	P	43	ENSP00000413041:T43P;ENSP00000385386:T43P;ENSP00000308970:T43P;ENSP00000244296:T43P	ENSP00000244296:T43P	T	-	1	0	PSG1	48074208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.721000	0.01870	-0.760000	0.04677	-3.567000	0.00029	ACC	T|0.708;G|0.292	0.292	strong		0.483	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			G	43382368	T	G	43382368	3	3	22	1	0	0	0	0	1	0	0	0	12653	1725	60	5	1205	5	PSG1	19	43382368	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	112663	43382368	15746615	9933	15041	312	2								
PSG1	5669	hgsc.bcm.edu	37	chr19	43382374	43382374	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcggaaactttggttggctCggcttcaatcgtgacttggg					rs707744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43382374C>G	ENST00000436291.2	-	2	237	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.E41Q|PSG1_ENST00000244296.2_Missense_Mutation_p.E41Q|PSG1_ENST00000595124.1_Missense_Mutation_p.E41Q|PSG1_ENST00000595356.1_Missense_Mutation_p.E41Q|PSG1_ENST00000312439.6_Missense_Mutation_p.E41Q	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	41	Ig-like V-type.		E -> Q (in dbSNP:rs707744).	EPT -> QPP (in Ref. 4, 5 and 6). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTGGTTGGCTCGGCTTCAATC	0.473													.|||	2124	0.424121	0.503	0.4207	5008	,	,		18131	0.4276		0.2505	False		,,,				2504	0.4949				p.E41Q		Atlas-SNP	.											.	PSG1	196	.	0			c.G121C						PASS	.	G	GLN/GLU,GLN/GLU,GLN/GLU	2154,2252		582,990,631	147	166	160		121,121,121	-1.2	0	19	dbSNP_86	160	2121,6477		320,1481,2498	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	29,29,29	902,2471,3129	GG,GC,CC		24.6685,48.8879,32.8745	,,	41/420,41/418,41/427	43382374	4275,8729	2203	4299	6502	SO:0001583	missense	5669	exon2			TTGGCTCGGCTTC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.121G>C	19.37:g.43382374C>G	ENSP00000413041:p.Glu41Gln	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	336	129	0.383929	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.484	-0.878652	0.02550	0.488879	0.246685	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	1.46	-1.17	0.09648	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00061	-2.33	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.001;0.003;0.0	B;B;B;B;B;B;B;B	0.13407	0.008;0.003;0.001;0.004;0.003;0.007;0.009;0.004	T	0.43988	-0.9357	8	0.22706	T	0.39	.	4.7175	0.12903	0.0:0.5961:0.2282:0.1757	rs707744;rs3205494;rs16976238;rs61289360	41;41;41;41;41;41;41;41	O75238;P11464-4;G5E9F7;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.	Q	41	ENSP00000413041:E41Q;ENSP00000385386:E41Q;ENSP00000308970:E41Q;ENSP00000244296:E41Q	ENSP00000244296:E41Q	E	-	1	0	PSG1	48074214	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.330000	0.07925	-0.696000	0.05098	-1.122000	0.02009	GAG	C|0.695;G|0.305	0.305	strong		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			G	43382374	C	G	43382374	3	3	22	1	0	0	0	0	1	0	0	0	12653	893	31	4	1211	4	PSG1	19	43382374	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	43382374	15746609	9934	15042	312	2								
PSG1	5669	hgsc.bcm.edu	37	chr19	43382402	43382402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgtgacttgggcagtggtGggcaggttccagaagtttaa	15	6	0	2	rs17423717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43382402G>A	ENST00000436291.2	-	2	209	c.93C>T	c.(91-93)ccC>ccT	p.P31P	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.P31P|PSG1_ENST00000595124.1_Silent_p.P31P|PSG1_ENST00000403380.3_Silent_p.P31P|PSG1_ENST00000312439.6_Silent_p.P31P|PSG1_ENST00000244296.2_Silent_p.P31P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	31					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGGCAGTGGTGGGCAGGTTCC	0.493													.|||	52	0.0103834	0.0212	0.0072	5008	,	,		19198	0.005		0.002	False		,,,				2504	0.0123				p.P31P		Atlas-SNP	.											PSG1_ENST00000312439,NS,carcinoma,-1,4	PSG1	196	4	0			c.C93T						scavenged	.						142	154	150					19																	43382402		2203	4299	6502	SO:0001819	synonymous_variant	5669	exon2			AGTGGTGGGCAGG		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.93C>T	19.37:g.43382402G>A		Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	333	27	0.0810811	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																			G|0.996;A|0.004	0.004	strong		0.493	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43382402	G	A	43382402	2	1	22	1	0	0	0	0	0	0	0	1	12653	1335	47	2		2	PSG1	19	43382402	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28	43382402	15746581	9935	15043										
PSG6	5675	hgsc.bcm.edu	37	chr19	43411150	43411150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagcaagcatagagcccGctatgatttgtagtaatttg	10	7	0	3	rs78024453	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43411150G>A	ENST00000292125.2	-	5	1208	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	PSG6_ENST00000187910.2_Silent_p.S388S|PSG6_ENST00000402603.4_Silent_p.S295S	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	388	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CATAGAGCCCGCTATGATTTG	0.458													.|||	116	0.0231629	0.0825	0.0101	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.0				p.S388S		Atlas-SNP	.											.	PSG6	89	.	0			c.C1164T						PASS	.	T	,	343,4059		23,297,1881	192	203	199		1164,1164	-3.1	0	19	dbSNP_131	199	2,8596		0,2,4297	no	coding-synonymous,coding-synonymous	PSG6	NM_001031850.2,NM_002782.3	,	23,299,6178	AA,AG,GG		0.0233,7.7919,2.6538	,	388/425,388/436	43411150	345,12655	2201	4299	6500	SO:0001819	synonymous_variant	5675	exon5			GAGCCCGCTATGA		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1164C>T	19.37:g.43411150G>A		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	171	70	0.409357	NM_001031850	O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	CCDS12613.1																																																																																			G|0.976;A|0.024	0.024	strong		0.458	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		A	43411150	G	A	43411150	2	1	22	1	0	0	0	0	0	0	0	1	12659	1078	38	1		1	PSG6	19	43411150	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28748	43411150	15717833	9936	15044										
PSG6	5675	hgsc.bcm.edu	37	chr19	43414875	43414875	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctgcaacctgtgagtcAtagggaggttctgaccattc	11	10	2	2	rs59587483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43414875A>C	ENST00000292125.2	-	3	607	c.563T>G	c.(562-564)aTg>aGg	p.M188R	PSG6_ENST00000187910.2_Missense_Mutation_p.M188R|PSG6_ENST00000402603.4_Missense_Mutation_p.M188R	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	188	Ig-like C2-type 1.		M -> R (in dbSNP:rs59587483).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCTGTGAGTCATAGGGAGGTT	0.488																																					p.M188R		Atlas-SNP	.											.	PSG6	89	.	0			c.T563G						PASS	.	G	ARG/MET,ARG/MET	490,3912		33,424,1744	229	231	230		563,563	-3.3	0	19	dbSNP_129	230	4,8596		0,4,4296	yes	missense,missense	PSG6	NM_001031850.2,NM_002782.3	91,91	33,428,6040	CC,CA,AA		0.0465,11.1313,3.7994	,	188/425,188/436	43414875	494,12508	2201	4300	6501	SO:0001583	missense	5675	exon3			TGAGTCATAGGGA		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.563T>G	19.37:g.43414875A>C	ENSP00000292125:p.Met188Arg	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	294	133	0.452381	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	74	0.03388278388278388	67	0.13617886178861788	5	0.013812154696132596	2	0.0034965034965034965	0	0.0	N	0.033	-1.323644	0.01309	0.111313	4.65E-4	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.00705	5.81;5.81;5.81	1.64	-3.28	0.05033	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B	0.30973	0.018;0.074;0.302	B;B;B	0.28709	0.048;0.056;0.093	T	0.42361	-0.9456	8	0.51188	T	0.08	.	2.1928	0.03904	0.4901:0.193:0.0:0.3168	rs59587483	188;188;188	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	R	188	ENSP00000187910:M188R;ENSP00000385736:M188R;ENSP00000292125:M188R	ENSP00000187910:M188R	M	-	2	0	PSG6	48106715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.991000	0.00318	-0.913000	0.03832	-1.229000	0.01577	ATG	A|0.960;C|0.040	0.040	strong		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		C	43414875	A	C	43414875	3	2	22	1	0	0	0	0	1	0	0	0	12659	217	8	5	799	5	PSG6	19	43414875	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3725	43414875	15714108	9937	15045										
PSG6	5675	hgsc.bcm.edu	37	chr19	43420290	43420290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcacagtataaggtgacAgtgaaatatccagttactcc	7	10	1	2	rs76022539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43420290A>G	ENST00000292125.2	-	2	458	c.414T>C	c.(412-414)acT>acC	p.T138T	PSG6_ENST00000601833.1_Silent_p.T67T|PSG6_ENST00000187910.2_Silent_p.T138T|PSG6_ENST00000402603.4_Silent_p.T138T	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	138	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATAAGGTGACAGTGAAATATC	0.512													.|||	179	0.0357428	0.1225	0.0101	5008	,	,		19988	0.0089		0.0	False		,,,				2504	0.001				p.T138T		Atlas-SNP	.											.	PSG6	89	.	0			c.T414C						PASS	.	G	,	501,3901		35,431,1735	253	220	231		414,414	0.1	0	19	dbSNP_131	231	4,8594		0,4,4295	no	coding-synonymous,coding-synonymous	PSG6	NM_001031850.2,NM_002782.3	,	35,435,6030	GG,GA,AA		0.0465,11.3812,3.8846	,	138/425,138/436	43420290	505,12495	2201	4299	6500	SO:0001819	synonymous_variant	5675	exon2			GGTGACAGTGAAA		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.414T>C	19.37:g.43420290A>G		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	176	89	0.505682	NM_001031850	O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	CCDS12613.1																																																																																			A|0.961;G|0.039	0.039	strong		0.512	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		G	43420290	A	G	43420290	2	3	22	1	0	0	0	0	0	0	0	1	12659	175	7	3		3	PSG6	19	43420290	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5415	43420290	15708693	9938	15046										
PSG6	5675	hgsc.bcm.edu	37	chr19	43420451	43420451	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatatataatttgaccgtGtactacatatgatgtaatgt	6	7	0	2	rs386809477|rs3198831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43420451G>C	ENST00000292125.2	-	2	297	c.253C>G	c.(253-255)Cac>Gac	p.H85D	PSG6_ENST00000601833.1_Missense_Mutation_p.H14D|PSG6_ENST00000187910.2_Missense_Mutation_p.H85D|PSG6_ENST00000402603.4_Missense_Mutation_p.H85D	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	85	Ig-like V-type.		H -> D (in dbSNP:rs3198831). {ECO:0000269|PubMed:2271648, ECO:0000269|PubMed:2346748}.		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATTTGACCGTGTACTACATAT	0.443													.|||	2271	0.453474	0.5991	0.4265	5008	,	,		21337	0.4325		0.2525	False		,,,				2504	0.5041				p.H85D		Atlas-SNP	.											.	PSG6	89	.	0			c.C253G						PASS	.	C	ASP/HIS,ASP/HIS	2533,1869		767,999,435	312	293	300		253,253	-4.2	0	19	dbSNP_105	300	2232,6366		347,1538,2414	yes	missense,missense	PSG6	NM_001031850.2,NM_002782.3	81,81	1114,2537,2849	CC,CG,GG		25.9595,42.458,36.6538	,	85/425,85/436	43420451	4765,8235	2201	4299	6500	SO:0001583	missense	5675	exon2			GACCGTGTACTAC		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.253C>G	19.37:g.43420451G>C	ENSP00000292125:p.His85Asp	Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	287	286	0.996516	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	850	0.3891941391941392	293	0.5955284552845529	130	0.35911602209944754	231	0.40384615384615385	196	0.25857519788918204	N	0.005	-2.167004	0.00318	0.57542	0.259595	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.63744	-0.06;-0.06;-0.06	2.24	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00033	-2.575	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34153	-0.9840	8	0.02654	T	1	.	5.3567	0.16065	0.2634:0.2385:0.4981:0.0	rs3198831;rs52810447;rs3198831	85;85;85	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	D	85	ENSP00000187910:H85D;ENSP00000385736:H85D;ENSP00000292125:H85D	ENSP00000187910:H85D	H	-	1	0	PSG6	48112291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.739000	0.01840	-1.078000	0.03117	-1.041000	0.02371	CAC	G|0.625;C|0.375	0.375	strong		0.443	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		C	43420451	G	C	43420451	3	2	22	1	0	0	0	0	1	0	0	0	12659	1377	48	4	1113	4	PSG6	19	43420451	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161	43420451	15708532	9939	15047										
PSG7	5676	hgsc.bcm.edu	37	chr19	43433805	43433805	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctcaggatcacaggttaaAatcacagcctccgtggcctc	9	13	3	0	rs1065178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43433805A>G	ENST00000406070.2	-	0	594				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CACAGGTTAAAATCACAGCCT	0.527													.|||	2229	0.445088	0.5666	0.4294	5008	,	,		18641	0.4216		0.2704	False		,,,				2504	0.4959				p.I44I		Atlas-SNP	.											.	.	.	.	0			c.T132C						PASS	.	G	,	2464,1938		733,998,470	220	217	218		132,498	-2.7	0	19	dbSNP_86	218	2421,6179		400,1621,2279	no	coding-synonymous,coding-synonymous	PSG7	NM_001206650.1,NM_002783.2	,	1133,2619,2749	GG,GA,AA		28.1512,44.0254,37.5711	,	44/298,166/420	43433805	4885,8117	2201	4300	6501			5676	exon2			GGTTAAAATCACA			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433805A>G		Somatic	225	2	0.00888889		WXS	Illumina HiSeq	Phase_I	298	297	0.996644	NM_001206650	Q15232	Silent	SNP	ENST00000406070.2	37																																																																																				A|0.622;G|0.378	0.378	strong		0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		G	43433805	A	G	43433805	1	3	22	0	1	0	0	0	0	0	0	0	12660	10	1	2		2	PSG7	19	43433805	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13354	43433805	15695178	9940	15048										
PSG11	5680	hgsc.bcm.edu	37	chr19	43519270	43519270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgggatccacttaccaAtgactctgattgtcaaggat	9	9	2	2	rs111493043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43519270A>G	ENST00000401740.1	-	4	1065	c.962T>C	c.(961-963)aTt>aCt	p.I321T	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.I199T|PSG11_ENST00000320078.7_Missense_Mutation_p.I321T|PSG11_ENST00000306322.7_Missense_Mutation_p.I199T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	414	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I321T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTTACCAATGACTCTGAT	0.463													.|||	184	0.0367412	0.0287	0.0029	5008	,	,		21410	0.0883		0.0	False		,,,				2504	0.0562				p.I321T		Atlas-SNP	.											PSG11,NS,carcinoma,0,1	PSG11	57	1	1	Substitution - Missense(1)	stomach(1)	c.T962C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE	140,4258	99.8+/-138.5	10,120,2069	138	132	134		596,962,596	-2	0	19	dbSNP_132	134	16,8580	11.2+/-40.8	0,16,4282	yes	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	89,89,89	10,136,6351	GG,GA,AA		0.1861,3.1833,1.2006	,,	199/214,321/336,199/214	43519270	156,12838	2199	4298	6497	SO:0001583	missense	5680	exon4			TTACCAATGACTC	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.962T>C	19.37:g.43519270A>G	ENSP00000384995:p.Ile321Thr	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	236	112	0.474576	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	68	0.031135531135531136	18	0.036585365853658534	0	0.0	50	0.08741258741258741	0	0.0	a	0.012	-1.679652	0.00751	0.031833	0.001861	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	0.976	-1.95	0.07548	Immunoglobulin-like fold (1);	.	.	.	.	T	0.01558	0.0050	N	0.02539	-0.55	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.15484	0.012;0.013	T	0.02020	-1.1228	9	0.29301	T	0.29	.	2.7499	0.05277	0.2605:0.0:0.4834:0.2561	.	199;321	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	T	321;199;199;321	ENSP00000319140:I321T;ENSP00000385427:I199T;ENSP00000304913:I199T;ENSP00000384995:I321T	ENSP00000304913:I199T	I	-	2	0	PSG11	48211110	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	-1.447000	0.02396	-1.624000	0.01556	-1.386000	0.01163	ATT	A|0.982;G|0.018	0.018	strong		0.463	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		G	43519270	A	G	43519270	3	3	22	1	0	0	0	0	1	0	0	0	12654	101	4	2	53	2	PSG11	19	43519270	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	85465	43519270	15609713	9941	15049										
PSG11	5680	hgsc.bcm.edu	37	chr19	43519362	43519362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccattatgctttggagtaatCtgagggataaagagcttttg	11	5	1	2	rs11083680	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43519362C>T	ENST00000401740.1	-	4	973	c.870G>A	c.(868-870)caG>caA	p.Q290Q	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Silent_p.Q168Q|PSG11_ENST00000320078.7_Silent_p.Q290Q|PSG11_ENST00000306322.7_Silent_p.Q168Q			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	299	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGAGTAATCTGAGGGATAA	0.458													.|||	3243	0.647564	0.6551	0.4986	5008	,	,		20620	0.9871		0.4751	False		,,,				2504	0.5706				p.Q290Q		Atlas-SNP	.											PSG11,right_lower_lobe,carcinoma,-2,1	PSG11	57	1	0			c.G870A						PASS	.	T	,,	2884,1514	479.9+/-358.7	986,912,301	163	162	162		504,870,504	-0.8	0	19	dbSNP_120	162	3875,4719	606.8+/-395.2	915,2045,1337	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	1901,2957,1638	TT,TC,CC		45.0896,34.4247,47.9757	,,	168/214,290/336,168/214	43519362	6759,6233	2199	4297	6496	SO:0001819	synonymous_variant	5680	exon4			AGTAATCTGAGGG	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.870G>A	19.37:g.43519362C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	189	87	0.460317	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																			C|0.424;T|0.576	0.576	strong		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43519362	C	T	43519362	2	4	22	1	0	0	0	0	0	0	0	1	12654	912	32	2		2	PSG11	19	43519362	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	92	43519362	15609621	9942	15050										
PSG11	5680	hgsc.bcm.edu	37	chr19	43519442	43519442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgctggtgggttagagtTtgcgaagcaggacaagtcga	16	6	0	1	rs10414166	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43519442T>C	ENST00000401740.1	-	4	893	c.790A>G	c.(790-792)Aac>Gac	p.N264D	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.N142D|PSG11_ENST00000320078.7_Missense_Mutation_p.N264D|PSG11_ENST00000306322.7_Missense_Mutation_p.N142D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	261	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGGTTAGAGTTTGCGAAGCAG	0.443													.|||	4289	0.85643	0.9803	0.7594	5008	,	,		20114	0.999		0.6789	False		,,,				2504	0.7935				p.N264D		Atlas-SNP	.											.	PSG11	57	.	0			c.A790G						PASS	.	C	ASP/ASN,ASP/ASN,ASP/ASN	4100,300	163.3+/-195.1	1925,250,25	142	150	147		424,790,424	-2.3	0	19	dbSNP_119	147	5841,2755	439.2+/-359.1	2028,1785,485	yes	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	23,23,23	3953,2035,510	CC,CT,TT		32.0498,6.8182,23.5072	,,	142/214,264/336,142/214	43519442	9941,3055	2200	4298	6498	SO:0001583	missense	5680	exon4			TAGAGTTTGCGAA	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.790A>G	19.37:g.43519442T>C	ENSP00000384995:p.Asn264Asp	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	1839	0.842032967032967	476	0.967479674796748	270	0.7458563535911602	571	0.9982517482517482	522	0.6886543535620053	c	0.210	-1.037745	0.02013	0.931818	0.679502	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	1.3	-2.28	0.06826	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.02181	-0.65	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27739	-1.0065	8	0.02654	T	1	.	5.6087	0.17394	0.0:0.4336:0.0:0.5664	rs10414166;rs52794850;rs58631477;rs10414166	142;264	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	D	264;142;142;264	ENSP00000319140:N264D;ENSP00000385427:N142D;ENSP00000304913:N142D;ENSP00000384995:N264D	ENSP00000304913:N142D	N	-	1	0	PSG11	48211282	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	-0.180000	0.09754	-1.524000	0.01764	-1.160000	0.01791	AAC	T|0.203;C|0.797	0.797	strong		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		C	43519442	T	C	43519442	3	2	22	1	0	0	0	0	1	0	0	0	12654	1841	64	2	225	2	PSG11	19	43519442	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	80	43519442	15609541	9943	15051										
PSG11	5680	hgsc.bcm.edu	37	chr19	43528932	43528932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaggatcctgcgtcctccCgggtgacattctggatcagc	12	12	2	1	rs111739483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43528932C>T	ENST00000401740.1	-	2	444	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R114Q|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.443													.|||	228	0.0455272	0.0605	0.0058	5008	,	,		20906	0.0883		0.0	False		,,,				2504	0.0562				p.R114Q		Atlas-SNP	.											.	PSG11	57	.	0			c.G341A						PASS	.	C	,GLN/ARG,	166,4230		15,136,2047	157	153	154		,341,	-1.9	0	19	dbSNP_132	154	16,8574		0,16,4279	no	intron,missense,intron	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,43,	15,152,6326	TT,TC,CC		0.1863,3.7762,1.4015	,,	,114/336,	43528932	182,12804	2198	4295	6493	SO:0001583	missense	5680	exon2			TCCTCCCGGGTGA	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.341G>A	19.37:g.43528932C>T	ENSP00000384995:p.Arg114Gln	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	277	133	0.480144	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	79	0.036172161172161175	28	0.056910569105691054	1	0.0027624309392265192	50	0.08741258741258741	0	0.0	t	0.021	-1.424426	0.01126	0.037762	0.001863	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.65732	-0.17;-0.17	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00967	0.0032	N	0.03983	-0.305	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.03202	-1.1061	9	0.07990	T	0.79	.	1.4589	0.02391	0.3155:0.2605:0.0:0.424	.	114	Q9UQ72	PSG11_HUMAN	Q	114	ENSP00000319140:R114Q;ENSP00000384995:R114Q	ENSP00000319140:R114Q	R	-	2	0	PSG11	48220772	0.000000	0.05858	0.024000	0.17045	0.008000	0.06430	-2.383000	0.01063	-1.324000	0.02272	-1.109000	0.02080	CGG	C|0.977;T|0.023	0.023	strong		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43528932	C	T	43528932	3	4	22	1	0	0	0	0	1	0	0	0	12654	652	23	1	682	1	PSG11	19	43528932	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9490	43528932	15600051	9944	15052										
PSG11	5680	hgsc.bcm.edu	37	chr19	43529026	43529026	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattatttgaccgtctactaCatatgatgtaatgtaatggt					rs2471952|rs34787457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43529026C>T	ENST00000401740.1	-	2	350	c.247G>A	c.(247-249)Gta>Ata	p.V83I	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.V83I|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	83	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCGTCTACTACATATGATGTA	0.438													.|||	3215	0.641973	0.6407	0.4928	5008	,	,		21422	0.9871		0.4722	False		,,,				2504	0.5685				p.V83I		Atlas-SNP	.											.	PSG11	57	.	0			c.G247A						PASS	.	C	,ILE/VAL,	2792,1606		954,884,361	159	156	157		,247,	-1.6	0	19	dbSNP_100	157	3705,4887		899,1907,1490	no	intron,missense,intron	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,29,	1853,2791,1851	TT,TC,CC		43.1215,36.5166,49.9846	,,	,83/336,	43529026	6497,6493	2199	4296	6495	SO:0001583	missense	5680	exon2			CTACTACATATGA	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.247G>A	19.37:g.43529026C>T	ENSP00000384995:p.Val83Ile	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	176	78	0.443182	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	1207	0.5526556776556777	246	0.5	161	0.4447513812154696	501	0.8758741258741258	299	0.3944591029023747	c	2.568	-0.300368	0.05532	0.634834	0.431215	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.67345	-0.26;-0.26	0.929	-1.65	0.08291	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.17379	0.485	0.80722	P	0.0	B	0.11235	0.004	B	0.24394	0.053	T	0.22382	-1.0218	8	0.34782	T	0.22	.	3.9341	0.09298	0.0:0.4493:0.0:0.5507	rs2471952	83	Q9UQ72	PSG11_HUMAN	I	83	ENSP00000319140:V83I;ENSP00000384995:V83I	ENSP00000319140:V83I	V	-	1	0	PSG11	48220866	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.856000	0.00729	-0.586000	0.05898	0.184000	0.17185	GTA	CA|0.500;TG|0.500	.	alt		0.438	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43529026	C	T	43529026	3	4	22	1	0	0	0	0	1	0	0	0	12654	478	17	2	776	2	PSG11	19	43529026	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94	43529026	15599957	9945	15053	313	2								
PSG11	5680	hgsc.bcm.edu	37	chr19	43529027	43529027	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attatttgaccgtctactacAtatgatgtaatgtaatggta					rs1058958|rs34787457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43529027A>G	ENST00000401740.1	-	2	349	c.246T>C	c.(244-246)taT>taC	p.Y82Y	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.Y82Y|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	82	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CGTCTACTACATATGATGTAA	0.438													.|||	3220	0.642971	0.6415	0.4942	5008	,	,		21207	0.9871		0.4751	False		,,,				2504	0.5685				p.Y82Y		Atlas-SNP	.											.	PSG11	57	.	0			c.T246C						PASS	.	A	,,	2792,1606		955,882,362	157	155	155		,246,	0.9	0	19	dbSNP_86	155	3707,4885		901,1905,1490	no	intron,coding-synonymous,intron	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	1856,2787,1852	GG,GA,AA		43.1448,36.5166,49.9692	,,	,82/336,	43529027	6499,6491	2199	4296	6495	SO:0001819	synonymous_variant	5680	exon2			TACTACATATGAT	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.246T>C	19.37:g.43529027A>G		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	175	75	0.428571	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																			A|0.479;G|0.521	0.521	strong		0.438	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		G	43529027	A	G	43529027	2	3	22	1	0	0	0	0	0	0	0	1	12654	224	8	2		2	PSG11	19	43529027	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	43529027	15599956	9946	15054	313	2								
PSG2	5670	hgsc.bcm.edu	37	chr19	43575928	43575928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagcaaacatagagcccGctatgctttgtagtaatttg	9	8	0	2	rs1064935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43575928G>A	ENST00000406487.1	-	4	986	c.888C>T	c.(886-888)agC>agT	p.S296S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	296	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S296S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CATAGAGCCCGCTATGCTTTG	0.468													G|||	223	0.0445288	0.0522	0.0043	5008	,	,		19689	0.0952		0.0	False		,,,				2504	0.0562				p.S296S		Atlas-SNP	.											PSG2,NS,carcinoma,0,1	PSG2	84	1	1	Substitution - coding silent(1)	stomach(1)	c.C888T						PASS	.	G		210,4194	129.8+/-166.5	13,184,2005	176	183	180		888	-0.1	0	19	dbSNP_86	180	18,8580	11.9+/-42.8	0,18,4281	no	coding-synonymous	PSG2	NM_031246.3		13,202,6286	AA,AG,GG		0.2094,4.7684,1.7536		296/336	43575928	228,12774	2202	4299	6501	SO:0001819	synonymous_variant	5670	exon4			GAGCCCGCTATGC		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.888C>T	19.37:g.43575928G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	211	89	0.421801	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																			T|0.002;G|0.976;A|0.023	0.023	strong		0.468	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		A	43575928	G	A	43575928	2	1	22	1	0	0	0	0	0	0	0	1	12655	1078	38	1		1	PSG2	19	43575928	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46901	43575928	15553055	9947	15055										
PSG2	5670	hgsc.bcm.edu	37	chr19	43576029	43576029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccggtgggttagagttcgCgaagcaagacaagtagaggt	16	6	0	3	rs112235686	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43576029C>T	ENST00000406487.1	-	4	885	c.787G>A	c.(787-789)Gcg>Acg	p.A263T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTAGAGTTCGCGAAGCAAGAC	0.438													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20011	0.0		0.0	False		,,,				2504	0.0				p.A263T		Atlas-SNP	.											PSG2,colon,carcinoma,+1,2	PSG2	84	2	0			c.G787A						PASS	.	C	THR/ALA	27,4377	33.5+/-64.1	2,23,2177	180	191	187		787	0	0	19	dbSNP_132	187	10,8588	7.7+/-29.5	0,10,4289	yes	missense	PSG2	NM_031246.3	58	2,33,6466	TT,TC,CC		0.1163,0.6131,0.2846		263/336	43576029	37,12965	2202	4299	6501	SO:0001583	missense	5670	exon4			AGTTCGCGAAGCA		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.787G>A	19.37:g.43576029C>T	ENSP00000385706:p.Ala263Thr	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	195	89	0.45641	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	c	1.983	-0.433771	0.04669	0.006131	0.001163	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.15603	2.41	1.26	-0.0241	0.13940	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10981	0.0268	M	0.73372	2.23	0.09310	N	1	B;B	0.22414	0.069;0.003	B;B	0.20767	0.031;0.022	T	0.35400	-0.9790	9	0.20519	T	0.43	.	3.758	0.08593	0.0:0.7179:0.0:0.2821	.	263;263	B5MCM8;P11465	.;PSG2_HUMAN	T	263	ENSP00000385706:A263T	ENSP00000332984:A263T	A	-	1	0	PSG2	48267869	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.248000	0.08854	-0.149000	0.11215	0.398000	0.26397	GCG	C|0.998;T|0.002	0.002	strong		0.438	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43576029	C	T	43576029	3	4	22	1	0	0	0	0	1	0	0	0	12655	768	27	1	228	1	PSG2	19	43576029	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101	43576029	15552954	9948	15056										
PSG2	5670	hgsc.bcm.edu	37	chr19	43579642	43579642	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcggacagctgaaacctAtgagtcatagggaggctctg	13	8	2	2	rs1803670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43579642A>G	ENST00000406487.1	-	3	671	c.573T>C	c.(571-573)caT>caC	p.H191H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	191	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTGAAACCTATGAGTCATAG	0.493													A|||	1309	0.261382	0.5477	0.1729	5008	,	,		19639	0.0655		0.165	False		,,,				2504	0.2382				p.H191H		Atlas-SNP	.											.	PSG2	84	.	0			c.T573C						PASS	.	A		2058,2346		511,1036,655	253	259	257		573	0.2	0	19	dbSNP_131	257	1666,6930		169,1328,2801	no	coding-synonymous	PSG2	NM_031246.3		680,2364,3456	GG,GA,AA		19.3811,46.7302,28.6462		191/336	43579642	3724,9276	2202	4298	6500	SO:0001819	synonymous_variant	5670	exon3			AAACCTATGAGTC		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.573T>C	19.37:g.43579642A>G		Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	286	136	0.475524	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																			A|0.738;G|0.262	0.262	strong		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		G	43579642	A	G	43579642	2	3	22	1	0	0	0	0	0	0	0	1	12655	446	16	2		2	PSG2	19	43579642	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3613	43579642	15549341	9949	15057										
PSG2	5670	hgsc.bcm.edu	37	chr19	43579679	43579679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgaccattcatccaccacTggtagcttgtgtccggagtc	9	13	2	1	rs1058086	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43579679T>A	ENST00000406487.1	-	3	634	c.536A>T	c.(535-537)cAg>cTg	p.Q179L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	179	Ig-like C2-type 1.		Q -> L (in dbSNP:rs1058086).		cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CATCCACCACTGGTAGCTTGT	0.502													T|||	609	0.121605	0.056	0.2017	5008	,	,		19263	0.0893		0.1103	False		,,,				2504	0.1984				p.Q179L		Atlas-SNP	.											.	PSG2	84	.	0			c.A536T						PASS	.	T	LEU/GLN	303,4101		21,261,1920	245	247	246		536	-2.7	0	19	dbSNP_86	246	964,7630		57,850,3390	no	missense	PSG2	NM_031246.3	113	78,1111,5310	AA,AT,TT		11.2171,6.8801,9.7477		179/336	43579679	1267,11731	2202	4297	6499	SO:0001583	missense	5670	exon3			CACCACTGGTAGC		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.536A>T	19.37:g.43579679T>A	ENSP00000385706:p.Gln179Leu	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	359	186	0.518106	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	231	0.10576923076923077	30	0.06097560975609756	61	0.1685082872928177	49	0.08566433566433566	91	0.12005277044854881	N	0	-2.587248	0.00128	0.068801	0.112171	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.14516	2.5	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.01076	-1.035	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29305	-1.0016	8	0.02654	T	1	.	3.0717	0.06233	0.2961:0.4666:0.0:0.2373	rs1058086;rs3198696;rs16976416;rs57294777	179;179	B5MCM8;P11465	.;PSG2_HUMAN	L	179	ENSP00000385706:Q179L	ENSP00000332984:Q179L	Q	-	2	0	PSG2	48271519	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-3.566000	0.00429	-1.108000	0.03000	-0.589000	0.04120	CAG	T|0.897;A|0.103	0.103	strong		0.502	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		A	43579679	T	A	43579679	3	1	22	1	0	0	0	0	1	0	0	0	12655	1580	55	5	483	5	PSG2	19	43579679	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37	43579679	15549304	9950	15058										
PSG2	5670	hgsc.bcm.edu	37	chr19	43585122	43585122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtaggatcctgcgtcctccCgggtgacattctggatcagc	12	12	2	1	rs143255979	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43585122C>T	ENST00000406487.1	-	2	439	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	114	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.443													C|||	222	0.0443291	0.0514	0.0043	5008	,	,		22221	0.0952		0.0	False		,,,				2504	0.0562				p.R114Q		Atlas-SNP	.											.	PSG2	84	.	0			c.G341A						PASS	.	C	GLN/ARG	209,4195		13,183,2006	102	104	103		341	-1.1	0	19	dbSNP_134	103	18,8536		0,18,4259	no	missense	PSG2	NM_031246.3	43	13,201,6265	TT,TC,CC		0.2104,4.7457,1.7518		114/336	43585122	227,12731	2202	4277	6479	SO:0001583	missense	5670	exon2			TCCTCCCGGGTGA		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.341G>A	19.37:g.43585122C>T	ENSP00000385706:p.Arg114Gln	Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	308	160	0.519481	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	73	0.033424908424908424	22	0.044715447154471545	1	0.0027624309392265192	50	0.08741258741258741	0	0.0	N	0.008	-1.862315	0.00552	0.047457	0.002104	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.65732	-0.17	0.569	-1.14	0.09741	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00784	0.0026	N	0.01464	-0.85	0.09310	N	1	B;B	0.15473	0.013;0.003	B;B	0.11329	0.006;0.006	T	0.02081	-1.1217	8	0.06494	T	0.89	.	.	.	.	.	114;114	B5MCM8;P11465	.;PSG2_HUMAN	Q	114	ENSP00000385706:R114Q	ENSP00000332984:R114Q	R	-	2	0	PSG2	48276962	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.551000	0.02178	-1.764000	0.01305	-1.109000	0.02080	CGG	C|0.978;T|0.022	0.022	strong		0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43585122	C	T	43585122	3	4	22	1	0	0	0	0	1	0	0	0	12655	652	23	1	682	1	PSG2	19	43585122	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5443	43585122	15543861	9951	15059										
PSG2	5670	hgsc.bcm.edu	37	chr19	43585286	43585286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtagccagtaagattctgGggcaaattgtggacaagtag	13	5	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43585286G>A	ENST00000406487.1	-	2	275	c.177C>T	c.(175-177)ccC>ccT	p.P59P	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	59	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAAGATTCTGGGGCAAATTGT	0.458																																					p.P59P		Atlas-SNP	.											PSG2,colon,carcinoma,-2,4	PSG2	84	4	0			c.C177T						scavenged	.						113	116	115					19																	43585286		2203	4296	6499	SO:0001819	synonymous_variant	5670	exon2			ATTCTGGGGCAAA		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.177C>T	19.37:g.43585286G>A		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	357	15	0.0420168	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																			.	.	none		0.458	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		A	43585286	G	A	43585286	2	1	22	1	0	0	0	0	0	0	0	1	12655	1219	43	2		2	PSG2	19	43585286	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	164	43585286	15543697	9952	15060										
PSG2	5670	hgsc.bcm.edu	37	chr19	43586664	43586664	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttctctcctcacctgtgaCcaggagccccttccatttga	7	15	2	2	rs3887660	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43586664C>G	ENST00000406487.1	-	1	156	c.58G>C	c.(58-60)Gtc>Ctc	p.V20L	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	20			V -> L (in dbSNP:rs3887660). {ECO:0000269|PubMed:15489334}.		cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V20L(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCACCTGTGACCAGGAGCCCC	0.557													G|||	2011	0.401558	0.6604	0.3847	5008	,	,		15645	0.1647		0.2763	False		,,,				2504	0.4366				p.V20L		Atlas-SNP	.											PSG2,NS,carcinoma,0,1	PSG2	84	1	1	Substitution - Missense(1)	stomach(1)	c.G58C						scavenged	.	G	LEU/VAL	2565,1837	516.5+/-369.2	800,965,436	73	84	80		58	0.9	0	19	dbSNP_108	80	2589,6005	677.6+/-403.4	408,1773,2116	no	missense	PSG2	NM_031246.3	32	1208,2738,2552	GG,GC,CC		30.1257,41.731,39.6584		20/336	43586664	5154,7842	2201	4297	6498	SO:0001583	missense	5670	exon1			CTGTGACCAGGAG		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.58G>C	19.37:g.43586664C>G	ENSP00000385706:p.Val20Leu	Somatic	35	1	0.0285714		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	631	0.2889194139194139	253	0.5142276422764228	119	0.3287292817679558	77	0.1346153846153846	182	0.24010554089709762	g	0.005	-2.197153	0.00299	0.58269	0.301257	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.20200	2.09	0.929	0.929	0.19449	.	.	.	.	.	T	0.00012	0.0000	N	0.00017	-2.825	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43310	-0.9399	8	0.02654	T	1	.	4.8558	0.13559	0.0:0.3956:0.6044:0.0	rs3887660;rs16976190;rs17405493;rs17856656;rs59584375	20;20	B5MCM8;P11465	.;PSG2_HUMAN	L	20	ENSP00000385706:V20L	ENSP00000332984:V20L	V	-	1	0	PSG2	48278504	0.355000	0.24921	0.006000	0.13384	0.012000	0.07955	-0.238000	0.08977	-0.027000	0.13873	-1.122000	0.02009	GTC	C|0.628;G|0.372	0.372	strong		0.557	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		G	43586664	C	G	43586664	3	3	22	1	0	0	0	0	1	0	0	0	12655	507	18	4	969	4	PSG2	19	43586664	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1378	43586664	15542319	9953	15061										
PSG5	5673	hgsc.bcm.edu	37	chr19	43680051	43680051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagggtgactgggtcactgCgcatgccaccatctcggtcc	12	14	3	1	rs1058285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43680051C>T	ENST00000366175.3	-	3	810	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.R320H|PSG5_ENST00000407356.1_Missense_Mutation_p.R227H|PSG5_ENST00000342951.6_Missense_Mutation_p.R227H|PSG5_ENST00000404580.1_Missense_Mutation_p.R227H			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	227	Ig-like C2-type 1.		R -> H (in dbSNP:rs1058285). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1922019, ECO:0000269|PubMed:2735907, ECO:0000269|PubMed:2789512}.		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGGTCACTGCGCATGCCACC	0.493													C|||	3818	0.76238	0.8245	0.5821	5008	,	,		20297	0.9851		0.6123	False		,,,				2504	0.7311				p.R227H		Atlas-SNP	.											PSG5,NS,carcinoma,+1,1	PSG5	58	1	0			c.G680A						PASS	.	C	HIS/ARG,HIS/ARG	3465,937	737.2+/-410.9	1384,697,120	163	157	159		680,680	-0.6	0	19	dbSNP_86	159	5169,3421	638.3+/-399.3	1609,1951,735	no	missense,missense	PSG5	NM_001130014.1,NM_002781.3	29,29	2993,2648,855	TT,TC,CC		39.8254,21.2858,33.5437	benign,benign	227/336,227/336	43680051	8634,4358	2201	4295	6496	SO:0001583	missense	5673	exon3			TCACTGCGCATGC		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.680G>A	19.37:g.43680051C>T	ENSP00000382334:p.Arg227His	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_002781	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	1650	0.7554945054945055	415	0.8434959349593496	207	0.5718232044198895	567	0.9912587412587412	461	0.6081794195250659	c	2.454	-0.325779	0.05350	0.787142	0.601746	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	1.08	-0.623	0.11556	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	M	0.69823	2.125	0.80722	P	0.0	B	0.18610	0.029	B	0.25140	0.058	T	0.14868	-1.0457	8	0.42905	T	0.14	.	5.5781	0.17235	0.0:0.6701:0.3299:0.0	rs1058285;rs3179036;rs3198896;rs17845347;rs17858192;rs58622191;rs1058285	227	Q15238	PSG5_HUMAN	H	227	ENSP00000382334:R227H;ENSP00000386008:R227H;ENSP00000344413:R227H;ENSP00000385250:R227H	ENSP00000344413:R227H	R	-	2	0	PSG5	48371891	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.267000	0.08619	-1.394000	0.02077	-1.271000	0.01417	CGC	C|0.311;T|0.689	0.689	strong		0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		T	43680051	C	T	43680051	3	4	22	1	0	0	0	0	1	0	0	0	12658	768	27	1	339	1	PSG5	19	43680051	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93387	43680051	15448932	9954	15062										
PSG5	5673	hgsc.bcm.edu	37	chr19	43680147	43680147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatcctgttttcaatgggtCgctttaccctgggactgacc	11	11	1	1	rs17856402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43680147C>T	ENST00000366175.3	-	3	714	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	PSG5_ENST00000407356.1_Missense_Mutation_p.R195Q|PSG5_ENST00000342951.6_Missense_Mutation_p.R195Q|PSG5_ENST00000599812.1_Missense_Mutation_p.R288Q|PSG5_ENST00000404580.1_Missense_Mutation_p.R195Q|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	195	Ig-like C2-type 1.			R -> Q (in Ref. 1; no nucleotide entry and 5; AAH12607). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R195Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.493													C|||	1629	0.32528	0.18	0.255	5008	,	,		21769	0.5962		0.1541	False		,,,				2504	0.4683				p.R195Q		Atlas-SNP	.											PSG5,NS,carcinoma,0,1	PSG5	58	1	1	Substitution - Missense(1)	stomach(1)	c.G584A						PASS	.	C	GLN/ARG,GLN/ARG	831,3569	314.7+/-293.7	110,611,1479	100	108	105		584,584	-2.2	0	19	dbSNP_123	105	1452,7100	267.6+/-287.4	146,1160,2970	no	missense,missense	PSG5	NM_001130014.1,NM_002781.3	43,43	256,1771,4449	TT,TC,CC		16.9785,18.8864,17.6266	possibly-damaging,possibly-damaging	195/336,195/336	43680147	2283,10669	2200	4276	6476	SO:0001583	missense	5673	exon3			ATGGGTCGCTTTA		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.584G>A	19.37:g.43680147C>T	ENSP00000382334:p.Arg195Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	104	29	0.278846	NM_002781	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	638	0.29212454212454214	111	0.22560975609756098	85	0.23480662983425415	321	0.5611888111888111	121	0.15963060686015831	c	6.800	0.516679	0.12944	0.188864	0.169785	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.01203	5.21;5.21;5.21;5.18	1.08	-2.17	0.07059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.22414	0.069	B	0.26202	0.067	T	0.26467	-1.0102	8	0.87932	D	0	.	1.9424	0.03349	0.4382:0.2855:0.0:0.2763	rs17856402;rs60589884	195	Q15238	PSG5_HUMAN	Q	195	ENSP00000382334:R195Q;ENSP00000386008:R195Q;ENSP00000344413:R195Q;ENSP00000385250:R195Q	ENSP00000344413:R195Q	R	-	2	0	PSG5	48371987	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.531000	0.23052	-1.812000	0.01227	-1.109000	0.02080	CGA	.	.	weak		0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		T	43680147	C	T	43680147	3	4	22	1	0	0	0	0	1	0	0	0	12658	884	31	1	435	1	PSG5	19	43680147	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	96	43680147	15448836	9955	15063										
PSG5	5673	hgsc.bcm.edu	37	chr19	43689004	43689004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctttatgatgtgtaaggtGtaggatcctgcgtcttcccg	12	9	1	1	rs2302112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43689004G>A	ENST00000366175.3	-	2	490	c.360C>T	c.(358-360)taC>taT	p.Y120Y	PSG5_ENST00000407356.1_Silent_p.Y120Y|PSG5_ENST00000342951.6_Silent_p.Y120Y|PSG5_ENST00000599812.1_Silent_p.Y120Y|PSG5_ENST00000404580.1_Silent_p.Y120Y|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Silent_p.Y120Y			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	120	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Y120Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTGTAAGGTGTAGGATCCTG	0.443													G|||	1626	0.324681	0.1793	0.2536	5008	,	,		21945	0.5952		0.1541	False		,,,				2504	0.4683				p.Y120Y		Atlas-SNP	.											PSG5,NS,carcinoma,0,1	PSG5	58	1	1	Substitution - coding silent(1)	stomach(1)	c.C360T						scavenged	.	G	,	834,3572		112,610,1481	344	312	323		360,360	1.6	0.1	19	dbSNP_100	323	1468,7122		149,1170,2976	no	coding-synonymous,coding-synonymous	PSG5	NM_001130014.1,NM_002781.3	,	261,1780,4457	AA,AG,GG		17.0896,18.9287,17.7131	,	120/336,120/336	43689004	2302,10694	2203	4295	6498	SO:0001819	synonymous_variant	5673	exon2			TAAGGTGTAGGAT		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.360C>T	19.37:g.43689004G>A		Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	271	110	0.405904	NM_002781	Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	CCDS12617.1																																																																																			G|0.795;A|0.205	0.205	strong		0.443	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43689004	G	A	43689004	2	1	22	1	0	0	0	0	0	0	0	1	12658	1372	48	2		2	PSG5	19	43689004	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8857	43689004	15439979	9956	15064										
PSG5	5673	hgsc.bcm.edu	37	chr19	43690506	43690506	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcacctgtgagcaggaGccccttccaggtgatgtgct	11	14	1	2	rs8107936	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43690506G>C	ENST00000366175.3	-	1	182	c.52C>G	c.(52-54)Ctc>Gtc	p.L18V	PSG5_ENST00000599812.1_Missense_Mutation_p.L18V|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.L18V|PSG5_ENST00000407568.1_Missense_Mutation_p.L18V|PSG5_ENST00000407356.1_Missense_Mutation_p.L18V|PSG5_ENST00000404580.1_Missense_Mutation_p.L18V			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	18			L -> V (in dbSNP:rs8107936). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1922019, ECO:0000269|PubMed:2735907, ECO:0000269|PubMed:2789512}.		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTGAGCAGGAGCCCCTTCCAG	0.582													G|||	3659	0.730631	0.7481	0.5749	5008	,	,		18212	0.9762		0.6123	False		,,,				2504	0.6861				p.L18V		Atlas-SNP	.											PSG5,rectum,carcinoma,0,1	PSG5	58	1	0			c.C52G						scavenged	.	G	VAL/LEU,VAL/LEU	3185,1221		1179,827,197	91	91	91		52,52	0.3	0	19	dbSNP_116	91	5160,3426		1603,1954,736	no	missense,missense	PSG5	NM_001130014.1,NM_002781.3	32,32	2782,2781,933	CC,CG,GG		39.9022,27.7122,35.7682	benign,benign	18/336,18/336	43690506	8345,4647	2203	4293	6496	SO:0001583	missense	5673	exon1			GCAGGAGCCCCTT		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.52C>G	19.37:g.43690506G>C	ENSP00000382334:p.Leu18Val	Somatic	30	1	0.0333333		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_002781	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	1393	0.6378205128205128	289	0.5873983739837398	177	0.4889502762430939	518	0.9055944055944056	409	0.5395778364116095	N	3.655	-0.070693	0.07228	0.722878	0.600978	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01665	5.01;5.01;4.7;5.01;4.99	1.41	0.325	0.15903	.	.	.	.	.	T	0.00012	0.0000	L	0.33753	1.03	0.80722	P	0.0	B;B	0.29671	0.254;0.14	B;B	0.43575	0.424;0.35	T	0.02639	-1.1130	8	0.49607	T	0.09	.	3.7117	0.08423	0.2559:0.0:0.7441:0.0	rs8107936;rs11549987;rs17856401;rs59769041	18;18	E9PC55;Q15238	.;PSG5_HUMAN	V	18	ENSP00000382334:L18V;ENSP00000386008:L18V;ENSP00000386053:L18V;ENSP00000344413:L18V;ENSP00000385250:L18V	ENSP00000344413:L18V	L	-	1	0	PSG5	48382346	0.117000	0.22190	0.003000	0.11579	0.030000	0.12068	0.008000	0.13197	0.166000	0.19597	0.184000	0.17185	CTC	G|0.373;C|0.627	0.627	strong		0.582	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		C	43690506	G	C	43690506	3	2	22	1	0	0	0	0	1	0	0	0	12658	971	34	4	975	4	PSG5	19	43690506	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1502	43690506	15438477	9957	15065										
PSG4	5672	hgsc.bcm.edu	37	chr19	43699336	43699336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaatgtaggtgtagttctTactcttaggttcacaggtga	10	7	3	1	rs1058718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43699336T>C	ENST00000405312.3	-	4	1036	c.799A>G	c.(799-801)Aag>Gag	p.K267E	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.K174E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	267	Ig-like C2-type 2.		K -> E (in dbSNP:rs1058718). {ECO:0000269|PubMed:1922019, ECO:0000269|PubMed:2271648, ECO:0000269|PubMed:2783133, ECO:0000269|PubMed:7794280}.		female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGTAGTTCTTACTCTTAGGT	0.453													C|||	3897	0.778155	0.8782	0.6239	5008	,	,		20698	0.9196		0.6332	False		,,,				2504	0.7556				p.Y267D		Atlas-SNP	.											.	PSG4	129	.	0			c.T799G						PASS	.	C	GLU/LYS,	3472,932		1533,406,263	194	221	212		799,	0.4	0	19	dbSNP_86	212	4922,3662		1751,1420,1121	no	missense,intron	PSG4	NM_002780.3,NM_213633.1	56,	3284,1826,1384	CC,CT,TT		42.6608,21.1626,35.3711	,	267/420,	43699336	8394,4594	2202	4292	6494	SO:0001583	missense	5672	exon4			AGTTCTTACTCTT		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.799A>G	19.37:g.43699336T>C	ENSP00000384770:p.Lys267Glu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	1499	0.6863553113553114	376	0.7642276422764228	199	0.5497237569060773	505	0.8828671328671329	419	0.5527704485488126	c	1.976	-0.435342	0.04669	0.788374	0.573392	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.08984	3.03;3.03	1.55	0.359	0.16088	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.03281	-0.365	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05582	-1.0876	8	0.17832	T	0.49	.	3.7266	0.08477	0.0:0.2787:0.4428:0.2786	rs1058718;rs3175734;rs3859473;rs16976140;rs17846620;rs17859710;rs58532735	174;267	E7EX79;Q00888	.;PSG4_HUMAN	E	267;174	ENSP00000384770:K267E;ENSP00000387864:K174E	ENSP00000384770:K267E	K	-	1	0	PSG4	48391176	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.111000	0.01333	-0.465000	0.06953	-2.373000	0.00235	AAG	T|0.323;C|0.677	0.677	strong		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		C	43699336	T	C	43699336	3	2	22	1	0	0	0	0	1	0	0	0	12657	1763	61	2	472	2	PSG4	19	43699336	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8830	43699336	15429647	9958	15066										
PSG4	5672	hgsc.bcm.edu	37	chr19	43699417	43699417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgtgatgtagggcttggAcagctttgctgtgtggataa	15	4	0	1	rs3859474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43699417A>G	ENST00000405312.3	-	4	955	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.S147P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	240	Ig-like C2-type 2.		S -> P (in dbSNP:rs3859474).		female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGGGCTTGGACAGCTTTGCT	0.448													G|||	3385	0.675919	0.7806	0.5029	5008	,	,		21072	0.9196		0.3748	False		,,,				2504	0.7157				p.G240R		Atlas-SNP	.											.	PSG4	129	.	0			c.G718C						PASS	.	G	PRO/SER,	3115,1289		1142,831,229	226	249	241		718,	0.7	0	19	dbSNP_108	241	2884,5706		613,1658,2024	no	missense,intron	PSG4	NM_002780.3,NM_213633.1	74,	1755,2489,2253	GG,GA,AA		33.5739,29.2688,46.1675	,	240/420,	43699417	5999,6995	2202	4295	6497	SO:0001583	missense	5672	exon4			GCTTGGACAGCTT		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.718T>C	19.37:g.43699417A>G	ENSP00000384770:p.Ser240Pro	Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	186	186	1	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	1388	0.6355311355311355	400	0.8130081300813008	174	0.48066298342541436	536	0.9370629370629371	278	0.36675461741424803	g	1.545	-0.540857	0.04053	0.707312	0.335739	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.56444	0.46;1.62	1.79	0.708	0.18144	Immunoglobulin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00885	-1.115	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20306	-1.0279	8	0.17832	T	0.49	.	3.9233	0.09253	0.44:0.0:0.56:0.0	rs3859474;rs11544957;rs17855784;rs52830368;rs3859474	147;240	E7EX79;Q00888	.;PSG4_HUMAN	P	240;147	ENSP00000384770:S240P;ENSP00000387864:S147P	ENSP00000384770:S240P	S	-	1	0	PSG4	48391257	0.001000	0.12720	0.006000	0.13384	0.002000	0.02628	-0.163000	0.09997	0.114000	0.18032	-0.273000	0.10243	TCC	A|0.397;G|0.603	0.603	strong		0.448	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		G	43699417	A	G	43699417	3	3	22	1	0	0	0	0	1	0	0	0	12657	275	10	2	553	2	PSG4	19	43699417	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	81	43699417	15429566	9959	15067										
PSG4	5672	hgsc.bcm.edu	37	chr19	43709647	43709647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagcaggacccccttccaGgtgatgcgctgtgtgcaggg	16	11	0	2	rs12985206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43709647G>A	ENST00000405312.3	-	1	279	c.42C>T	c.(40-42)acC>acT	p.T14T	PSG4_ENST00000244295.9_Silent_p.T14T|PSG4_ENST00000433626.2_Silent_p.T14T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	14					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCCCCTTCCAGGTGATGCGCT	0.597													G|||	3276	0.654153	0.6392	0.5274	5008	,	,		13710	0.7966		0.5865	False		,,,				2504	0.6871				p.P14P		Atlas-SNP	.											.	PSG4	129	.	0			c.C42T						PASS	.						62	61	61					19																	43709647		2186	4271	6457	SO:0001819	synonymous_variant	5672	exon1			CTTCCAGGTGATG		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.42C>T	19.37:g.43709647G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	29	21	0.724138	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	CCDS46093.1																																																																																			G|0.536;A|0.464	0.464	strong		0.597	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		A	43709647	G	A	43709647	2	1	22	1	0	0	0	0	0	0	0	1	12657	987	35	2		2	PSG4	19	43709647	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10230	43709647	15419336	9960	15068										
PSG9	5678	hgsc.bcm.edu	37	chr19	43773532	43773532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcacctgtgagcaggaGccccttccaggtgatgcgct	11	15	1	2	rs8101191	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43773532G>C	ENST00000270077.3	-	1	148	c.52C>G	c.(52-54)Ctc>Gtc	p.L18V	PSG9_ENST00000593948.1_Missense_Mutation_p.L18V|PSG9_ENST00000596730.1_Missense_Mutation_p.L18V|PSG9_ENST00000418820.2_Missense_Mutation_p.L18V|PSG9_ENST00000291752.5_Missense_Mutation_p.L18V|PSG9_ENST00000244293.7_Missense_Mutation_p.L18V|PSG9_ENST00000443718.3_Missense_Mutation_p.L18V	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	18			L -> V (in dbSNP:rs8101191).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTGAGCAGGAGCCCCTTCCAG	0.602													g|||	953	0.190296	0.2148	0.1484	5008	,	,		16929	0.38		0.0835	False		,,,				2504	0.1012				p.L18V		Atlas-SNP	.											.	PSG9	77	.	0			c.C52G						PASS	.	A	VAL/LEU	883,3523	343.3+/-307.6	83,717,1403	96	94	95		52	-3.2	0	19	dbSNP_116	95	525,8075	146.8+/-202.3	24,477,3799	no	missense	PSG9	NM_002784.3	32	107,1194,5202	CC,CG,GG		6.1047,20.0409,10.8258	benign	18/427	43773532	1408,11598	2203	4300	6503	SO:0001583	missense	5678	exon1			GCAGGAGCCCCTT	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.52C>G	19.37:g.43773532G>C	ENSP00000270077:p.Leu18Val	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	67	24	0.358209	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	431	0.19734432234432234	94	0.1910569105691057	54	0.14917127071823205	229	0.40034965034965037	54	0.0712401055408971	g	3.947	-0.013044	0.07727	0.200409	0.061047	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.53206	0.63;2.1;2.46;1.47	2.17	-3.23	0.05109	.	.	.	.	.	T	0.00012	0.0000	L	0.46614	1.455	0.80722	P	0.0	B;P;P;B;B	0.38335	0.076;0.494;0.627;0.001;0.002	B;B;B;B;B	0.37346	0.034;0.125;0.247;0.008;0.005	T	0.33033	-0.9884	8	0.54805	T	0.06	.	6.1349	0.20225	0.6288:0.0:0.3712:0.0	rs8101191	18;18;18;18;18	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	V	18	ENSP00000270077:L18V;ENSP00000291752:L18V;ENSP00000396753:L18V;ENSP00000244293:L18V	ENSP00000244293:L18V	L	-	1	0	PSG9	48465372	0.022000	0.18835	0.015000	0.15790	0.061000	0.15899	-0.421000	0.07053	-0.493000	0.06678	-1.906000	0.00525	CTC	G|0.866;C|0.134	0.134	strong		0.602	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		C	43773532	G	C	43773532	3	2	22	1	0	0	0	0	1	0	0	0	12662	971	34	4	1252	4	PSG9	19	43773532	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63885	43773532	15355451	9961	15069										
PSG9	5678	hgsc.bcm.edu	37	chr19	43773572	43773572	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtgcaggaaggggctggGaggggccccatggtctctgc					rs8101210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43773572G>A	ENST00000270077.3	-	1	108	c.12C>T	c.(10-12)ctC>ctT	p.L4L	PSG9_ENST00000593948.1_Silent_p.L4L|PSG9_ENST00000596730.1_Silent_p.L4L|PSG9_ENST00000418820.2_Silent_p.L4L|PSG9_ENST00000291752.5_Silent_p.L4L|PSG9_ENST00000244293.7_Silent_p.L4L|PSG9_ENST00000443718.3_Silent_p.L4L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	4				L -> F (in Ref. 5; AAA60203). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGGGGCTGGGAGGGGCCCCA	0.617													G|||	952	0.190096	0.2141	0.147	5008	,	,		17084	0.381		0.0835	False		,,,				2504	0.1012				p.L4L		Atlas-SNP	.											PSG9,NS,carcinoma,-2,1	PSG9	77	1	0			c.C12T						PASS	.	G		884,3522	343.6+/-307.7	83,718,1402	110	104	106		12	-0.6	0	19	dbSNP_116	106	524,8076	147.1+/-202.6	23,478,3799	no	coding-synonymous	PSG9	NM_002784.3		106,1196,5201	AA,AG,GG		6.093,20.0635,10.8258		4/427	43773572	1408,11598	2203	4300	6503	SO:0001819	synonymous_variant	5678	exon1			GGCTGGGAGGGGC	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.12C>T	19.37:g.43773572G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	68	26	0.382353	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	CCDS12618.1																																																																																			G|0.863;A|0.137	0.137	strong		0.617	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		A	43773572	G	A	43773572	2	1	22	1	0	0	0	0	0	0	0	1	12662	1161	41	2		2	PSG9	19	43773572	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	40	43773572	15355411	9962	15070	314	2								
PSG9	5678	hgsc.bcm.edu	37	chr19	43773574	43773574	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcaggaaggggctgggaGgggccccatggtctctgctg					rs73037706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43773574G>A	ENST00000270077.3	-	1	106	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	PSG9_ENST00000593948.1_Missense_Mutation_p.L4F|PSG9_ENST00000596730.1_Missense_Mutation_p.L4F|PSG9_ENST00000418820.2_Missense_Mutation_p.L4F|PSG9_ENST00000291752.5_Missense_Mutation_p.L4F|PSG9_ENST00000244293.7_Missense_Mutation_p.L4F|PSG9_ENST00000443718.3_Missense_Mutation_p.L4F	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	4				L -> F (in Ref. 5; AAA60203). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L4F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGGCTGGGAGGGGCCCCATG	0.617													G|||	499	0.0996406	0.2269	0.0331	5008	,	,		16943	0.0873		0.0119	False		,,,				2504	0.0777				p.L4F		Atlas-SNP	.											PSG9,NS,carcinoma,0,1	PSG9	77	1	1	Substitution - Missense(1)	stomach(1)	c.C10T						PASS	.	G	PHE/LEU	828,3578	328.0+/-300.3	86,656,1461	110	104	106		10	1	0	19	dbSNP_130	106	99,8501	54.4+/-115.2	3,93,4204	no	missense	PSG9	NM_002784.3	22	89,749,5665	AA,AG,GG		1.1512,18.7926,7.1275	benign	4/427	43773574	927,12079	2203	4300	6503	SO:0001583	missense	5678	exon1			CTGGGAGGGGCCC	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.10C>T	19.37:g.43773574G>A	ENSP00000270077:p.Leu4Phe	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	40	0.597015	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	185	0.08470695970695971	109	0.22154471544715448	13	0.03591160220994475	55	0.09615384615384616	8	0.010554089709762533	g	9.631	1.136353	0.21123	0.187926	0.011512	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.49432	0.78;2.28;2.6;1.47	2.17	0.998	0.19857	.	.	.	.	.	T	0.00039	0.0001	L	0.40543	1.245	0.80722	P	0.0	P;B;D;B;B	0.89917	0.617;0.379;1.0;0.01;0.001	P;B;D;B;B	0.80764	0.533;0.214;0.994;0.03;0.011	T	0.05599	-1.0875	8	0.41790	T	0.15	.	6.3442	0.21341	0.0:0.3377:0.6623:0.0	.	4;4;4;4;4	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	F	4	ENSP00000270077:L4F;ENSP00000291752:L4F;ENSP00000396753:L4F;ENSP00000244293:L4F	ENSP00000244293:L4F	L	-	1	0	PSG9	48465414	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.437000	0.21543	0.209000	0.20645	0.298000	0.19748	CTC	G|0.929;A|0.071	0.071	strong		0.617	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		A	43773574	G	A	43773574	3	1	22	1	0	0	0	0	1	0	0	0	12662	1000	35	2	1294	2	PSG9	19	43773574	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	43773574	15355409	9963	15071	314	2								
LYPD3	27076	hgsc.bcm.edu	37	chr19	43967423	43967423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactccacgccgttgggcggGtatgcactctcattacctgc	10	15	1	0	rs79420167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:43967423G>A	ENST00000244333.3	-	4	487	c.399C>T	c.(397-399)taC>taT	p.Y133Y		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	133					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CGTTGGGCGGGTATGCACTCT	0.647													G|||	52	0.0103834	0.0378	0.0029	5008	,	,		15418	0.0		0.0	False		,,,				2504	0.0				p.Y133Y		Atlas-SNP	.											.	LYPD3	24	.	0			c.C399T						PASS	.	G		130,4276	94.8+/-133.5	4,122,2077	49	46	47		399	-2.9	0	19	dbSNP_132	47	0,8600		0,0,4300	no	coding-synonymous	LYPD3	NM_014400.2		4,122,6377	AA,AG,GG		0.0,2.9505,0.9995		133/347	43967423	130,12876	2203	4300	6503	SO:0001819	synonymous_variant	27076	exon4			GGGCGGGTATGCA	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.399C>T	19.37:g.43967423G>A		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	34	15	0.441176	NM_014400	Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																			G|0.987;A|0.013	0.013	strong		0.647	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		A	43967423	G	A	43967423	2	1	22	1	0	0	0	0	0	0	0	1	9111	1256	44	2		2	LYPD3	19	43967423	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	193849	43967423	15161560	9964	15072										
IRGQ	126298	hgsc.bcm.edu	37	chr19	44096772	44096772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaacactggcggcggcgcCtcctccagcacctcccacgt	12	18	0	0	rs114508854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44096772C>T	ENST00000602269.1	-	2	1463	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Silent_p.E426E			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	426	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCGGCGGCGCCTCCTCCAGCA	0.687													C|||	128	0.0255591	0.0613	0.0029	5008	,	,		13730	0.0308		0.0	False		,,,				2504	0.0143				p.E426E		Atlas-SNP	.											.	IRGQ	40	.	0			c.G1278A						PASS	.	C		173,4233	106.5+/-144.9	4,165,2034	39	44	42		1278	2	0.9	19	dbSNP_132	42	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	IRGQ	NM_001007561.2		4,169,6330	TT,TC,CC		0.0465,3.9265,1.3609		426/624	44096772	177,12829	2203	4300	6503	SO:0001819	synonymous_variant	126298	exon3			CGGCGCCTCCTCC	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1278G>A	19.37:g.44096772C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	26	13	0.5	NM_001007561	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																			C|0.981;T|0.019	0.019	strong		0.687	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		T	44096772	C	T	44096772	2	4	22	1	0	0	0	0	0	0	0	1	7839	680	24	2		2	IRGQ	19	44096772	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	129349	44096772	15032211	9965	15073										
IRGQ	126298	hgsc.bcm.edu	37	chr19	44098963	44098963	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaaagccggcactcacctCcgcagcgcttctgcctggct	10	17	2	1	rs304725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44098963C>G	ENST00000602269.1	-	1	713	c.528G>C	c.(526-528)cgG>cgC	p.R176R	ZNF576_ENST00000336564.4_5'Flank|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000533118.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.R176R|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	176										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCACTCACCTCCGCAGCGCTT	0.657													C|||	2470	0.493211	0.4017	0.5274	5008	,	,		12894	0.4911		0.5427	False		,,,				2504	0.544				p.R176R		Atlas-SNP	.											.	IRGQ	40	.	0			c.G528C						PASS	.	C		1940,2460		440,1060,700	19	22	21		528	4.8	1	19	dbSNP_79	21	4601,3987		1242,2117,935	no	coding-synonymous	IRGQ	NM_001007561.2		1682,3177,1635	GG,GC,CC		46.4252,44.0909,49.6381		176/624	44098963	6541,6447	2200	4294	6494	SO:0001819	synonymous_variant	126298	exon2			TCACCTCCGCAGC	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.528G>C	19.37:g.44098963C>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	52	17	0.326923	NM_001007561	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																			C|0.497;G|0.503	0.503	strong		0.657	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		G	44098963	C	G	44098963	2	3	22	1	0	0	0	0	0	0	0	1	7839	842	30	4		4	IRGQ	19	44098963	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2191	44098963	15030020	9966	15074										
IRGC	56269	hgsc.bcm.edu	37	chr19	44223125	44223125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgctatgacttcttcctgCtggtctccccccgccgctgc	9	19	2	1	rs346049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44223125C>T	ENST00000244314.5	+	2	614	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	139	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTTCTTCCTGCTGGTCTCCCC	0.637													C|||	882	0.176118	0.4697	0.1081	5008	,	,		12871	0.001		0.1262	False		,,,				2504	0.0593				p.L139L	Colon(189;350 2037 11447 13433 38914)	Atlas-SNP	.											.	IRGC	67	.	0			c.C415T						PASS	.	C		1863,2515		415,1033,741	14	13	14		415	0.8	0.4	19	dbSNP_79	14	983,7575		68,847,3364	no	coding-synonymous	IRGC	NM_019612.3		483,1880,4105	TT,TC,CC		11.4863,42.5537,22.0006		139/464	44223125	2846,10090	2189	4279	6468	SO:0001819	synonymous_variant	56269	exon2			TTCCTGCTGGTCT	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.415C>T	19.37:g.44223125C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_019612	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			C|0.805;T|0.195	0.195	strong		0.637	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		T	44223125	C	T	44223125	2	4	22	1	0	0	0	0	0	0	0	1	7838	796	28	2		2	IRGC	19	44223125	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124162	44223125	14905858	9967	15075										
ZNF283	284349	hgsc.bcm.edu	37	chr19	44352690	44352690	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaaaacttgttcatgagaGaactcatagtaatgataaac	6	7	3	3	rs10417624|rs386809610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44352690G>T	ENST00000324461.7	+	7	2234	c.1937G>T	c.(1936-1938)aGa>aTa	p.R646I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		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(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTTCATGAGAGAACTCATAGT	0.368													G|||	221	0.0441294	0.1543	0.0231	5008	,	,		19758	0.0		0.001	False		,,,				2504	0.0				p.R646I		Atlas-SNP	.											ZNF283_ENST00000324461,NS,carcinoma,+1,1	ZNF283	83	1	0			c.G1937T						PASS	.	G	ILE/ARG	480,3432		29,422,1505	91	97	95		1937	2.9	0.3	19	dbSNP_119	95	10,8300		0,10,4145	yes	missense	ZNF283	NM_181845.1	97	29,432,5650	TT,TG,GG		0.1203,12.2699,4.0092	benign	646/680	44352690	490,11732	1956	4155	6111	SO:0001583	missense	284349	exon7			ATGAGAGAACTCA	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1937G>T	19.37:g.44352690G>T	ENSP00000327314:p.Arg646Ile	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	79	0.036172161172161175	67	0.13617886178861788	12	0.03314917127071823	0	0.0	0	0.0	G	13.04	2.117736	0.37339	0.122699	0.001203	ENSG00000167637	ENST00000324461	T	0.47528	0.84	2.89	2.89	0.33648	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00468	0.0015	M	0.71296	2.17	0.09310	P	0.9999999999950114	P	0.42941	0.794	P	0.45119	0.47	T	0.16276	-1.0408	8	0.59425	D	0.04	.	5.8675	0.18783	0.1483:0.0:0.8517:0.0	rs10417624;rs57616204;rs10417624	646	Q8N7M2	ZN283_HUMAN	I	646	ENSP00000327314:R646I	ENSP00000327314:R646I	R	+	2	0	ZNF283	49044530	0.189000	0.23263	0.274000	0.24659	0.180000	0.23129	2.942000	0.49018	1.626000	0.50381	0.557000	0.71058	AGA	G|0.953;T|0.047	0.047	strong		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		T	44352690	G	T	44352690	3	4	22	1	0	0	0	0	1	0	0	0	17817	942	33	4	1951	4	ZNF283	19	44352690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	129565	44352690	14776293	9968	15076										
ZNF404	342908	hgsc.bcm.edu	37	chr19	44377991	44377991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatatgatttctctcttgtGttatttctcttatgtagagg	7	6	4	2	rs78841585		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44377991G>A	ENST00000587539.1	-	3	374	c.375C>T	c.(373-375)aaC>aaT	p.N125N	ZNF404_ENST00000324394.6_Silent_p.N123N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	125					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)				TCTCTCTTGTGTTATTTCTCT	0.348																																					p.N122N		Atlas-SNP	.											.	ZNF404	46	.	0			c.C366T						PASS	.	G		821,2851		107,607,1122	119	135	130		375	-0.5	0	19	dbSNP_132	130	11,8193		0,11,4091	no	coding-synonymous	ZNF404	NM_001033719.2		107,618,5213	AA,AG,GG		0.1341,22.3584,7.0057		125/553	44377991	832,11044	1836	4102	5938	SO:0001819	synonymous_variant	342908	exon2			TCTTGTGTTATTT	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.375C>T	19.37:g.44377991G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	120	33	0.275	NM_001033719	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																			G|0.939;A|0.061	0.061	strong		0.348	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		A	44377991	G	A	44377991	2	1	22	1	0	0	0	0	0	0	0	1	17883	1368	48	2		2	ZNF404	19	44377991	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25301	44377991	14750992	9969	15077										
ZNF404	342908	hgsc.bcm.edu	37	chr19	44378009	44378009	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgttatttctcttatgtagAggaagggatttatgtttttt	10	2	1	1	rs74424854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44378009A>C	ENST00000587539.1	-	3	356	c.357T>G	c.(355-357)ccT>ccG	p.P119P	ZNF404_ENST00000324394.6_Silent_p.P117P	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	119					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)				TCTTATGTAGAGGAAGGGATT	0.353													A|||	394	0.0786741	0.2753	0.0418	5008	,	,		17922	0.0		0.001	False		,,,				2504	0.0				p.P116P		Atlas-SNP	.											ZNF404,NS,carcinoma,-1,1	ZNF404	46	1	0			c.T348G						PASS	.	A		841,2813		107,627,1093	129	142	138		357	-0.6	0	19	dbSNP_132	138	12,8172		0,12,4080	no	coding-synonymous	ZNF404	NM_001033719.2		107,639,5173	CC,CA,AA		0.1466,23.0159,7.2056		119/553	44378009	853,10985	1827	4092	5919	SO:0001819	synonymous_variant	342908	exon2			ATGTAGAGGAAGG	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.357T>G	19.37:g.44378009A>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	115	36	0.313043	NM_001033719	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																			A|0.939;C|0.061	0.061	strong		0.353	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		C	44378009	A	C	44378009	2	2	22	1	0	0	0	0	0	0	0	1	17883	291	11	5		5	ZNF404	19	44378009	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	18	44378009	14750974	9970	15078										
ZNF404	342908	hgsc.bcm.edu	37	chr19	44378063	44378063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctaaaacatcccactttaggTctctgttgtctcccaaattc	4	13	2	0	rs79324499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44378063T>C	ENST00000587539.1	-	3	302	c.303A>G	c.(301-303)agA>agG	p.R101R	ZNF404_ENST00000324394.6_Silent_p.R99R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	101					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)				CCACTTTAGGTCTCTGTTGTC	0.348													T|||	394	0.0786741	0.2753	0.0418	5008	,	,		18012	0.0		0.001	False		,,,				2504	0.0				p.R98R		Atlas-SNP	.											.	ZNF404	46	.	0			c.A294G						PASS	.	T		842,2840		107,628,1106	136	144	142		303	2	0	19	dbSNP_132	142	12,8152		0,12,4070	no	coding-synonymous	ZNF404	NM_001033719.2		107,640,5176	CC,CT,TT		0.147,22.868,7.2092		101/553	44378063	854,10992	1841	4082	5923	SO:0001819	synonymous_variant	342908	exon2			TTTAGGTCTCTGT	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.303A>G	19.37:g.44378063T>C		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	118	52	0.440678	NM_001033719	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																			T|0.939;C|0.061	0.061	strong		0.348	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		C	44378063	T	C	44378063	2	2	22	1	0	0	0	0	0	0	0	1	17883	1664	58	2		2	ZNF404	19	44378063	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	54	44378063	14750920	9971	15079										
ZNF155	7711	hgsc.bcm.edu	37	chr19	44496070	44496070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatggggacagcaacccaAagagaagggaattcaggtaa	13	6	1	2	rs431509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44496070A>G	ENST00000270014.2	+	4	347	c.219A>G	c.(217-219)caA>caG	p.Q73Q	ZNF155_ENST00000407951.2_Silent_p.Q84Q|ZNF155_ENST00000590615.1_Silent_p.Q73Q	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CAGCAACCCAAAGAGAAGGGA	0.478													A|||	2257	0.450679	0.5575	0.4942	5008	,	,		21633	0.5466		0.2893	False		,,,				2504	0.3425				p.Q84Q	NSCLC(61;554 1277 20909 42067 42312)	Atlas-SNP	.											.	ZNF155	30	.	0			c.A252G						PASS	.	A	,	2295,2111	601.2+/-389.7	607,1081,515	149	149	149		219,219	-2	0.1	19	dbSNP_80	149	2443,6157	403.2+/-347.7	355,1733,2212	no	coding-synonymous,coding-synonymous	ZNF155	NM_003445.2,NM_198089.1	,	962,2814,2727	GG,GA,AA		28.407,47.9119,36.4293	,	73/539,73/539	44496070	4738,8268	2203	4300	6503	SO:0001819	synonymous_variant	7711	exon5			AACCCAAAGAGAA	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.219A>G	19.37:g.44496070A>G		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_001260488	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	CCDS12634.1																																																																																			A|0.624;G|0.376	0.376	strong		0.478	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		G	44496070	A	G	44496070	2	3	22	1	0	0	0	0	0	0	0	1	17733	11	1	2		2	ZNF155	19	44496070	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	118007	44496070	14632913	9972	15080										
ZNF230	7773	hgsc.bcm.edu	37	chr19	44514859	44514859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccacactggagagaaacCattcaaatgtgagcaatgtg	10	8	1	2	rs147553354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44514859C>T	ENST00000429154.2	+	5	896	c.668C>T	c.(667-669)cCa>cTa	p.P223L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	223					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(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAGAAACCATTCAAATGT	0.428													C|||	11	0.00219649	0.0083	0.0	5008	,	,		22817	0.0		0.0	False		,,,				2504	0.0				p.P223L	GBM(175;914 2069 22996 47111 52600)	Atlas-SNP	.											.	ZNF230	44	.	0			c.C668T						PASS	.	C	LEU/PRO	37,4369	40.0+/-72.8	0,37,2166	101	103	103		668	2.7	0.1	19	dbSNP_134	103	0,8600		0,0,4300	yes	missense	ZNF230	NM_006300.3	98	0,37,6466	TT,TC,CC		0.0,0.8398,0.2845	benign	223/475	44514859	37,12969	2203	4300	6503	SO:0001583	missense	7773	exon5			AGAAACCATTCAA	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.668C>T	19.37:g.44514859C>T	ENSP00000409318:p.Pro223Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	120	50	0.416667	NM_006300	O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	CCDS33044.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.17	2.158672	0.38119	0.008398	0.0	ENSG00000159882	ENST00000429154	T	0.27557	1.66	2.67	2.67	0.31697	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29256	0.0728	M	0.80422	2.495	0.80722	D	1	B	0.25105	0.118	B	0.26310	0.068	T	0.44697	-0.9311	9	0.66056	D	0.02	.	12.4612	0.55733	0.0:1.0:0.0:0.0	.	223	Q9UIE0	ZN230_HUMAN	L	223	ENSP00000409318:P223L	ENSP00000409318:P223L	P	+	2	0	ZNF230	49206699	0.016000	0.18221	0.064000	0.19789	0.067000	0.16453	1.315000	0.33608	1.468000	0.48064	0.407000	0.27541	CCA	C|0.998;T|0.002	0.002	strong		0.428	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			T	44514859	C	T	44514859	3	4	22	1	0	0	0	0	1	0	0	0	17781	594	21	2	682	2	ZNF230	19	44514859	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18789	44514859	14614124	9973	15081										
ZNF284	342909	hgsc.bcm.edu	37	chr19	44590753	44590753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaaccatataattgtaaTgtatgtgggaagggcttcag	11	5	1	0	rs114253786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44590753T>C	ENST00000421176.3	+	5	1338	c.1122T>C	c.(1120-1122)aaT>aaC	p.N374N	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	374					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(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATAATTGTAATGTATGTGGGA	0.433													T|||	24	0.00479233	0.0166	0.0029	5008	,	,		21791	0.0		0.0	False		,,,				2504	0.0				p.N374N		Atlas-SNP	.											.	ZNF284	38	.	0			c.T1122C						PASS	.	T		65,4171		0,65,2053	93	100	98		1122	-4.8	0	19	dbSNP_132	98	0,8480		0,0,4240	no	coding-synonymous	ZNF284	NM_001037813.2		0,65,6293	CC,CT,TT		0.0,1.5345,0.5112		374/594	44590753	65,12651	2118	4240	6358	SO:0001819	synonymous_variant	342909	exon5			TTGTAATGTATGT	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1122T>C	19.37:g.44590753T>C		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	149	74	0.496644	NM_001037813	Q86WM1	Silent	SNP	ENST00000421176.3	37	CCDS46099.1																																																																																			T|0.995;C|0.005	0.005	strong		0.433	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		C	44590753	T	C	44590753	2	2	22	1	0	0	0	0	0	0	0	1	17818	1461	51	2		2	ZNF284	19	44590753	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	75894	44590753	14538230	9974	15082										
ZNF224	7767	hgsc.bcm.edu	37	chr19	44611162	44611162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacatcagagaatccatacGggggagaagccattcaaatg	11	8	2	2	rs13346417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44611162G>T	ENST00000336976.6	+	6	1103	c.849G>T	c.(847-849)acG>acT	p.T283T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	283					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T283T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAATCCATACGGGGGAGAAGC	0.428													G|||	697	0.139177	0.3147	0.1859	5008	,	,		22095	0.0833		0.0229	False		,,,				2504	0.046				p.T283T		Atlas-SNP	.											ZNF224,NS,carcinoma,0,1	ZNF224	70	1	1	Substitution - coding silent(1)	stomach(1)	c.G849T						PASS	.	G		1119,3287	397.9+/-330.6	156,807,1240	131	134	133		849	-6.9	0	19	dbSNP_121	133	87,8513	48.1+/-107.5	2,83,4215	no	coding-synonymous	ZNF224	NM_013398.2		158,890,5455	TT,TG,GG		1.0116,25.3972,9.2726		283/708	44611162	1206,11800	2203	4300	6503	SO:0001819	synonymous_variant	7767	exon6			CCATACGGGGGAG	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.849G>T	19.37:g.44611162G>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	137	63	0.459854	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	CCDS33046.1																																																																																			G|0.904;T|0.096	0.096	strong		0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		T	44611162	G	T	44611162	2	4	22	1	0	0	0	0	0	0	0	1	17775	1103	39	4		4	ZNF224	19	44611162	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20409	44611162	14517821	9975	15083										
ZNF225	7768	hgsc.bcm.edu	37	chr19	44636802	44636802	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaccaaagtggagagaaaAcatctaaatgtgaggactgt	12	5	1	3	rs16978738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44636802A>T	ENST00000262894.6	+	5	2315	c.2035A>T	c.(2035-2037)Aca>Tca	p.T679S	ZNF225_ENST00000590612.1_Missense_Mutation_p.T679S|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	679			T -> S (in dbSNP:rs16978738).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T679S(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGGAGAGAAAACATCTAAATG	0.403													A|||	344	0.0686901	0.0681	0.1599	5008	,	,		21420	0.0883		0.0139	False		,,,				2504	0.0409				p.T679S		Atlas-SNP	.											ZNF225,NS,carcinoma,0,1	ZNF225	41	1	1	Substitution - Missense(1)	stomach(1)	c.A2035T						PASS	.	A	SER/THR	209,4191	117.1+/-155.0	3,203,1994	47	47	47		2035	0.7	0	19	dbSNP_123	47	30,8566	19.8+/-62.0	1,28,4269	yes	missense	ZNF225	NM_013362.2	58	4,231,6263	TT,TA,AA		0.349,4.75,1.839	benign	679/707	44636802	239,12757	2200	4298	6498	SO:0001583	missense	7768	exon5			GAGAAAACATCTA	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.2035A>T	19.37:g.44636802A>T	ENSP00000262894:p.Thr679Ser	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	179	98	0.547486	NM_013362	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	147	0.0673076923076923	36	0.07317073170731707	53	0.1464088397790055	50	0.08741258741258741	8	0.010554089709762533	A	8.951	0.968102	0.18659	0.0475	0.00349	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.14640	2.49	1.85	0.686	0.18015	Zinc finger, C2H2 (1);	.	.	.	.	T	0.00039	0.0001	N	0.05259	-0.085	0.52099	P	5.299999999996974E-5	B	0.02656	0.0	B	0.09377	0.004	T	0.33599	-0.9862	8	0.52906	T	0.07	.	8.2405	0.31658	0.2453:0.7547:0.0:0.0	rs16978738;rs16978738	679	Q9UK10	ZN225_HUMAN	S	679;643	ENSP00000262894:T679S	ENSP00000262894:T679S	T	+	1	0	ZNF225	49328642	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.051000	0.11885	0.090000	0.17273	-0.677000	0.03784	ACA	A|0.937;T|0.063	0.063	strong		0.403	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			T	44636802	A	T	44636802	3	4	22	1	0	0	0	0	1	0	0	0	17776	43	2	5	2049	5	ZNF225	19	44636802	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25640	44636802	14492181	9976	15084										
ZNF226	7769	hgsc.bcm.edu	37	chr19	44680489	44680489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcattgcaaggtccacacGgcagagaaaccttataattg	9	9	1	1	rs2178342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44680489G>A	ENST00000590089.1	+	7	1441	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	ZNF226_ENST00000454662.2_Silent_p.T358T|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Silent_p.T358T			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	358					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)						Prostate(69;0.0352)|all_neural(266;0.202)				AGGTCCACACGGCAGAGAAAC	0.468													G|||	879	0.175519	0.4614	0.2046	5008	,	,		21068	0.0952		0.0179	False		,,,				2504	0.0133				p.T358T	Pancreas(115;581 1665 13228 19278 50070)	Atlas-SNP	.											.	.	.	.	0			c.G1074A						PASS	.	G	,	1783,2613	486.7+/-360.7	362,1059,777	89	96	94		1074,1074	-8.6	0	19	dbSNP_96	94	62,8534	34.3+/-88.2	2,58,4238	no	coding-synonymous,coding-synonymous	ZNF226	NM_001032372.1,NM_001032373.1	,	364,1117,5015	AA,AG,GG		0.7213,40.5596,14.201	,	358/804,358/804	44680489	1845,11147	2198	4298	6496	SO:0001819	synonymous_variant	7769	exon6			CCACACGGCAGAG	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1074G>A	19.37:g.44680489G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	99	98	0.989899	NM_001032372	Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	CCDS46102.1																																																																																			G|0.866;A|0.134	0.134	strong		0.468	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			A	44680489	G	A	44680489	2	1	22	1	0	0	0	0	0	0	0	1	17777	1103	39	1		1	ZNF226	19	44680489	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43687	44680489	14448494	9977	15085										
ZNF227	7770	hgsc.bcm.edu	37	chr19	44732658	44732658	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaggaactgcgactgctCgatcttacccagaggaagct	13	10	1	1	rs922063	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44732658C>G	ENST00000313040.7	+	4	325	c.120C>G	c.(118-120)ctC>ctG	p.L40L	ZNF227_ENST00000586228.1_Missense_Mutation_p.R27G|ZNF227_ENST00000589005.1_5'UTR|ZNF227_ENST00000589237.1_3'UTR|ZNF227_ENST00000391961.2_5'UTR|ZNF227_ENST00000589707.1_5'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TGCGACTGCTCGATCTTACCC	0.498													G|||	1018	0.203275	0.5439	0.2147	5008	,	,		17872	0.1052		0.0278	False		,,,				2504	0.0164				p.L40L		Atlas-SNP	.											.	ZNF227	62	.	0			c.C120G						PASS	.	G		2102,2304	601.8+/-389.8	505,1092,606	246	217	227		120	2.7	1	19	dbSNP_86	227	121,8479	814.2+/-407.0	4,113,4183	no	coding-synonymous	ZNF227	NM_182490.1		509,1205,4789	GG,GC,CC		1.407,47.7077,17.0921		40/800	44732658	2223,10783	2203	4300	6503	SO:0001819	synonymous_variant	7770	exon4			ACTGCTCGATCTT	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.120C>G	19.37:g.44732658C>G		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	273	271	0.992674	NM_182490	B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																			C|0.816;G|0.184	0.184	strong		0.498	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		G	44732658	C	G	44732658	2	3	22	1	0	0	0	0	0	0	0	1	17778	871	31	4		4	ZNF227	19	44732658	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52169	44732658	14396325	9978	15086										
ZNF227	7770	hgsc.bcm.edu	37	chr19	44740602	44740602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggctttagatacagttcGcagtttatataccatcagag	9	7	1	2	rs3810137	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44740602G>A	ENST00000313040.7	+	6	2224	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Silent_p.S622S|ZNF227_ENST00000589005.1_Silent_p.S622S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S673S(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GATACAGTTCGCAGTTTATAT	0.463													G|||	872	0.174121	0.4516	0.2046	5008	,	,		21632	0.1012		0.0179	False		,,,				2504	0.0133				p.S673S		Atlas-SNP	.											ZNF227,NS,carcinoma,+1,2	ZNF227	62	2	1	Substitution - coding silent(1)	stomach(1)	c.G2019A						PASS	.	G		1792,2614	527.3+/-372.1	365,1062,776	73	77	76		2019	-3.7	0	19	dbSNP_107	76	64,8536	36.9+/-92.0	2,60,4238	no	coding-synonymous	ZNF227	NM_182490.1		367,1122,5014	AA,AG,GG		0.7442,40.6718,14.2703		673/800	44740602	1856,11150	2203	4300	6503	SO:0001819	synonymous_variant	7770	exon6			CAGTTCGCAGTTT	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2019G>A	19.37:g.44740602G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_182490	B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																			G|0.861;A|0.139	0.139	strong		0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		A	44740602	G	A	44740602	2	1	22	1	0	0	0	0	0	0	0	1	17778	1074	38	1		1	ZNF227	19	44740602	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7944	44740602	14388381	9979	15087										
ZNF233	353355	hgsc.bcm.edu	37	chr19	44778799	44778799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctttagtaagagttcgttGtcttcagattcatcagagag	11	6	4	3	rs386809645|rs2884016	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44778799G>A	ENST00000391958.2	+	5	2113	c.1986G>A	c.(1984-1986)ttG>ttA	p.L662L	ZNF233_ENST00000334152.1_Silent_p.L644L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	662					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGTTCGTTGTCTTCAGATT	0.413													G|||	954	0.190495	0.2103	0.2824	5008	,	,		19009	0.2579		0.1203	False		,,,				2504	0.1012				p.L662L		Atlas-SNP	.											.	ZNF233	73	.	0			c.G1986A						PASS	.						69	77	74					19																	44778799		2203	4300	6503	SO:0001819	synonymous_variant	353355	exon5			TTCGTTGTCTTCA	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1986G>A	19.37:g.44778799G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	53	52	0.981132	NM_001207005	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544947	0.27652	.	.	ENSG00000159915	ENST00000280305	.	.	.	4.19	0.75	0.18387	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1825	0.25780	0.4734:0.0:0.5266:0.0	rs2884016;rs61035088;rs2884016	.	.	.	.	-1	.	.	.	+	.	.	ZNF233	49470639	0.000000	0.05858	0.173000	0.22940	0.965000	0.64279	-0.077000	0.11394	0.346000	0.23899	0.609000	0.83330	.	G|0.901;A|0.099	0.099	strong		0.413	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		A	44778799	G	A	44778799	2	1	22	1	0	0	0	0	0	0	0	1	17783	1368	48	2		2	ZNF233	19	44778799	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38197	44778799	14350184	9980	15088										
ZFP112	7771	hgsc.bcm.edu	37	chr19	44831989	44831989	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaaccctttgtacacaccTcacatttgtatggtttccct	5	12	1	1	rs2609881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44831989T>G	ENST00000337401.4	-	5	2427	c.2339A>C	c.(2338-2340)gAg>gCg	p.E780A	ZNF112_ENST00000354340.4_Missense_Mutation_p.E774A|ZNF112_ENST00000536500.1_Missense_Mutation_p.E797A	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	780			E -> A (in dbSNP:rs2609881).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTACACACCTCACATTTGTA	0.478													T|||	1279	0.255391	0.4781	0.3256	5008	,	,		22728	0.1855		0.1292	False		,,,				2504	0.1063				p.E780A		Atlas-SNP	.											.	ZFP112	219	.	0			c.A2339C						PASS	.	T	ALA/GLU,ALA/GLU	1877,2529	541.4+/-375.8	395,1087,721	224	211	215		2339,2321	1.7	0.2	19	dbSNP_100	215	1078,7522	225.7+/-261.6	70,938,3292	yes	missense,missense	ZFP112	NM_001083335.1,NM_013380.3	107,107	465,2025,4013	GG,GT,TT		12.5349,42.601,22.7203	benign,benign	780/914,774/908	44831989	2955,10051	2203	4300	6503	SO:0001583	missense	7771	exon5			CACACCTCACATT	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.2339A>C	19.37:g.44831989T>G	ENSP00000337081:p.Glu780Ala	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	278	277	0.996403	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	513	0.2348901098901099	210	0.4268292682926829	113	0.31215469613259667	97	0.16958041958041958	93	0.12269129287598944	T	9.365	1.069027	0.20147	0.42601	0.125349	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07444	3.19;3.19;3.19	5.18	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240848	0.21440	N	0.074510	T	0.00012	0.0000	L	0.57130	1.785	0.80722	P	0.0	B;B;B	0.12630	0.006;0.004;0.003	B;B;B	0.12156	0.007;0.004;0.007	T	0.45556	-0.9253	9	0.16420	T	0.52	-4.5387	9.0429	0.36329	0.1285:0.0:0.5287:0.3428	rs2609881;rs52828382;rs60369874;rs2609881	779;797;780	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	A	780;780;774;797;779	ENSP00000337081:E780A;ENSP00000346305:E774A;ENSP00000441990:E797A	ENSP00000253426:E779A	E	-	2	0	ZNF285	49523829	0.000000	0.05858	0.181000	0.23098	0.976000	0.68499	-1.254000	0.02874	0.019000	0.15079	0.460000	0.39030	GAG	T|0.766;G|0.234	0.234	strong		0.478	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		G	44831989	T	G	44831989	3	3	22	1	0	0	0	0	1	0	0	0	17635	1551	54	5	406	5	ZFP112	19	44831989	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	53190	44831989	14296994	9981	15089										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44890817	44890817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttgtgtggactctgagGtgaacattaagatctgaatt	10	6	3	4	rs73039937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44890817G>A	ENST00000330997.4	-	4	1654	c.1590C>T	c.(1588-1590)caC>caT	p.H530H	ZNF285_ENST00000591679.1_Silent_p.H537H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H530H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGACTCTGAGGTGAACATTAA	0.423													A|||	349	0.0696885	0.1853	0.0418	5008	,	,		22692	0.005		0.0338	False		,,,				2504	0.0368				p.H530H		Atlas-SNP	.											.	ZNF285	86	.	0			c.C1590T						PASS	.	A		723,3683	756.2+/-412.6	58,607,1538	100	100	100		1590	1.4	0.5	19	dbSNP_130	100	377,8223	801.9+/-407.4	12,353,3935	no	coding-synonymous	ZNF285	NM_152354.3		70,960,5473	AA,AG,GG		4.3837,16.4094,8.4576		530/591	44890817	1100,11906	2203	4300	6503	SO:0001819	synonymous_variant	26974	exon4			TCTGAGGTGAACA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1590C>T	19.37:g.44890817G>A		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	201	79	0.393035	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																			G|0.932;A|0.068	0.068	strong		0.423	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		A	44890817	G	A	44890817	2	1	22	1	0	0	0	0	0	0	0	1	17819	1252	44	2		2	ZNF285	19	44890817	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58828	44890817	14238166	9982	15090										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44890841	44890841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acattaagatctgaattccgGctgaagcctttaccacactc	6	12	1	3	rs59953894	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44890841G>A	ENST00000330997.4	-	4	1630	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	ZNF285_ENST00000544719.2_Silent_p.S522S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S529S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CTGAATTCCGGCTGAAGCCTT	0.418													g|||	228	0.0455272	0.1505	0.0346	5008	,	,		22939	0.001		0.003	False		,,,				2504	0.001				p.S522S		Atlas-SNP	.											.	ZNF285	86	.	0			c.C1566T						PASS	.	G		537,3869	238.7+/-250.0	28,481,1694	92	93	93		1566	0	0.1	19	dbSNP_129	93	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous	ZNF285	NM_152354.3		28,497,5978	AA,AG,GG		0.186,12.1879,4.2519		522/591	44890841	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	26974	exon4			ATTCCGGCTGAAG	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1566C>T	19.37:g.44890841G>A		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	201	84	0.41791	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																			G|0.962;A|0.038	0.038	strong		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		A	44890841	G	A	44890841	2	1	22	1	0	0	0	0	0	0	0	1	17819	1194	42	2		2	ZNF285	19	44890841	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24	44890841	14238142	9983	15091										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891554	44891554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggaattcatagggagtctTgccagagtgagttttacaat	12	5	2	2	rs61358479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44891554T>C	ENST00000330997.4	-	4	917	c.853A>G	c.(853-855)Aag>Gag	p.K285E	ZNF285_ENST00000591679.1_Missense_Mutation_p.K292E|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.K285E	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TAGGGAGTCTTGCCAGAGTGA	0.433													C|||	353	0.0704872	0.2148	0.0418	5008	,	,		19663	0.003		0.005	False		,,,				2504	0.0327				p.K285E		Atlas-SNP	.											.	ZNF285	86	.	0			c.A853G						PASS	.	C	GLU/LYS	709,3681		42,625,1528	80	94	90		853	1.8	0	19	dbSNP_129	90	39,8553		1,37,4258	no	missense	ZNF285	NM_152354.3	56	43,662,5786	CC,CT,TT		0.4539,16.1503,5.7618		285/591	44891554	748,12234	2195	4296	6491	SO:0001583	missense	26974	exon4			GAGTCTTGCCAGA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.853A>G	19.37:g.44891554T>C	ENSP00000333595:p.Lys285Glu	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	103	40	0.38835	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	149	0.06822344322344322	115	0.23373983739837398	21	0.058011049723756904	1	0.0017482517482517483	12	0.0158311345646438	C	0.110	-1.139808	0.01728	0.161503	0.004539	ENSG00000062370	ENST00000544719;ENST00000330997	T;T	0.16196	2.36;5.01	2.85	1.75	0.24633	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00300	-1.685	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43245	-0.9403	8	0.02654	T	1	.	5.1318	0.14915	0.2029:0.6759:0.0:0.1211	rs61358479	309;285	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	E	308;285	ENSP00000439431:K308E;ENSP00000333595:K285E	ENSP00000333595:K285E	K	-	1	0	ZNF285	49583394	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.087000	0.17167	-0.380000	0.06706	AAG	T|0.952;C|0.048	0.048	strong		0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891554	T	C	44891554	3	2	22	1	0	0	0	0	1	0	0	0	17819	1821	63	2	923	2	ZNF285	19	44891554	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	713	44891554	14237429	9984	15092										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891748	44891748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgggccgcattacgttttTcaaccgttgatttcataccc	7	12	2	1	rs60800862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44891748T>C	ENST00000330997.4	-	4	723	c.659A>G	c.(658-660)gAa>gGa	p.E220G	ZNF285_ENST00000591679.1_Missense_Mutation_p.E227G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E220G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATTACGTTTTTCAACCGTTGA	0.463													T|||	110	0.0219649	0.0809	0.0043	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.0				p.E220G		Atlas-SNP	.											.	ZNF285	86	.	0			c.A659G						PASS	.	T	GLY/GLU	255,4151	145.4+/-180.2	6,243,1954	103	100	101		659	-0.2	0	19	dbSNP_129	101	1,8599		0,1,4299	yes	missense	ZNF285	NM_152354.3	98	6,244,6253	CC,CT,TT		0.0116,5.7876,1.9683		220/591	44891748	256,12750	2203	4300	6503	SO:0001583	missense	26974	exon4			CGTTTTTCAACCG	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.659A>G	19.37:g.44891748T>C	ENSP00000333595:p.Glu220Gly	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	60	0.451128	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	T	6.112	0.388881	0.11581	0.057876	1.16E-4	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.28454	1.61	3.27	-0.157	0.13387	.	.	.	.	.	T	0.01905	0.0060	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21075	-1.0256	9	0.24483	T	0.36	.	3.8075	0.08783	0.1682:0.3505:0.0:0.4813	rs60800862	244;220	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	243;220	ENSP00000333595:E220G	ENSP00000333595:E220G	E	-	2	0	ZNF285	49583588	0.000000	0.05858	0.002000	0.10522	0.168000	0.22595	-0.057000	0.11768	0.046000	0.15833	0.373000	0.22412	GAA	T|0.983;C|0.017	0.017	strong		0.463	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891748	T	C	44891748	3	2	22	1	0	0	0	0	1	0	0	0	17819	1783	62	2	1117	2	ZNF285	19	44891748	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	194	44891748	14237235	9985	15093										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44892266	44892266	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtttttaatcccgtctccTaggagaagaaagagaatttg	9	6	1	3	rs200167944		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		ZNF285_ENST00000591679.1_Splice_Site|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																					.		Atlas-SNP	.											ZNF285,colon,carcinoma,0,1	ZNF285	86	1	0			c.143-2A>G						scavenged	.						50	54	53					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	26974	exon5			GTCTCCTAGGAGA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C		Somatic	122	3	0.0245902		WXS	Illumina HiSeq	Phase_I	132	7	0.0530303	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	.	.	weak		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	Intron	C	44892266	T	C	44892266	5	2	22	1	0	0	0	0	0	0	1	0	17819	1536	53	3	1635	3	ZNF285	19	44892266	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	518	44892266	14236717	9986	15094										
ZNF229	7772	hgsc.bcm.edu	37	chr19	44933706	44933706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggacttgaagcactgagCtgtaactgaagcccttccca	10	11	0	3	rs57014690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44933706C>T	ENST00000588931.1	-	6	1683	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.S411N|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	417			S -> N (in dbSNP:rs57014690).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGCACTGAGCTGTAACTGAA	0.522													C|||	814	0.16254	0.1929	0.3213	5008	,	,		20844	0.1558		0.1024	False		,,,				2504	0.0777				p.S417N		Atlas-SNP	.											ZNF229,tonsil,carcinoma,0,1	ZNF229	123	1	0			c.G1250A						scavenged	.	C	ASN/SER	751,3651	285.2+/-278.0	70,611,1520	89	100	96		1250	2.8	0	19	dbSNP_129	96	939,7661	203.5+/-246.5	60,819,3421	yes	missense	ZNF229	NM_014518.2	46	130,1430,4941	TT,TC,CC		10.9186,17.0604,12.998	benign	417/826	44933706	1690,11312	2201	4300	6501	SO:0001583	missense	7772	exon6			ACTGAGCTGTAAC	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1250G>A	19.37:g.44933706C>T	ENSP00000466519:p.Ser417Asn	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	123	63	0.512195	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	363	0.1662087912087912	102	0.2073170731707317	101	0.27900552486187846	83	0.1451048951048951	77	0.10158311345646438	C	11.10	1.539651	0.27563	0.170604	0.109186	ENSG00000167383	ENST00000291187	.	.	.	3.86	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.53561	1.675	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.12553	-1.0543	7	0.24483	T	0.36	.	6.4046	0.21658	0.0:0.6895:0.0:0.3105	rs57014690;rs61740849	417	Q9UJW7	ZN229_HUMAN	N	417	.	ENSP00000291187:S417N	S	-	2	0	ZNF229	49625546	0.000000	0.05858	0.042000	0.18584	0.554000	0.35429	-1.359000	0.02602	1.694000	0.51137	0.609000	0.83330	AGC	C|0.848;T|0.152	0.152	strong		0.522	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		T	44933706	C	T	44933706	3	4	22	1	0	0	0	0	1	0	0	0	17779	797	28	2	1231	2	ZNF229	19	44933706	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41440	44933706	14195277	9987	15095										
ZNF229	7772	hgsc.bcm.edu	37	chr19	44934653	44934653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttgcatgaggagagctcTttgtgtgaaaagaaccttaa	10	5	1	4	rs8113370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44934653T>C	ENST00000588931.1	-	6	736	c.303A>G	c.(301-303)aaA>aaG	p.K101K	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.K95K|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	101	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGAGAGCTCTTTGTGTGAAA	0.413													T|||	817	0.163139	0.1906	0.3228	5008	,	,		20023	0.1558		0.1074	False		,,,				2504	0.0777				p.K101K		Atlas-SNP	.											.	ZNF229	123	.	0			c.A303G						PASS	.	T		625,3057		51,523,1267	61	58	59		303	0.9	0	19	dbSNP_116	59	905,7281		54,797,3242	no	coding-synonymous	ZNF229	NM_014518.2		105,1320,4509	CC,CT,TT		11.0555,16.9745,12.8918		101/826	44934653	1530,10338	1841	4093	5934	SO:0001819	synonymous_variant	7772	exon6			GAGCTCTTTGTGT	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.303A>G	19.37:g.44934653T>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	128	61	0.476562	NM_014518	B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	CCDS42574.1																																																																																			T|0.846;C|0.154	0.154	strong		0.413	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		C	44934653	T	C	44934653	2	2	22	1	0	0	0	0	0	0	0	1	17779	1606	56	3		3	ZNF229	19	44934653	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	947	44934653	14194330	9988	15096										
ZNF180	7733	hgsc.bcm.edu	37	chr19	44981516	44981516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgatgggaaacaaggtgCgagctccggctgaaggattt	14	8	1	2	rs16979130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:44981516C>T	ENST00000221327.4	-	5	1463	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	ZNF180_ENST00000592529.1_Silent_p.S367S|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.S369S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	394					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(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AAACAAGGTGCGAGCTCCGGC	0.463													C|||	320	0.0638978	0.1362	0.0504	5008	,	,		18452	0.0794		0.005	False		,,,				2504	0.0204				p.S394S	Esophageal Squamous(180;1353 2003 32862 46574 49854)	Atlas-SNP	.											.	ZNF180	103	.	0			c.G1182A						PASS	.	C		501,3905	232.0+/-245.7	24,453,1726	66	68	67		1182	-10.9	0.4	19	dbSNP_123	67	23,8577	16.0+/-53.3	0,23,4277	no	coding-synonymous	ZNF180	NM_013256.3		24,476,6003	TT,TC,CC		0.2674,11.3709,4.0289		394/693	44981516	524,12482	2203	4300	6503	SO:0001819	synonymous_variant	7733	exon5			AAGGTGCGAGCTC	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1182G>A	19.37:g.44981516C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	73	39	0.534247	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	CCDS12639.1																																																																																			C|0.953;T|0.047	0.047	strong		0.463	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		T	44981516	C	T	44981516	2	4	22	1	0	0	0	0	0	0	0	1	17745	755	27	1		1	ZNF180	19	44981516	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46863	44981516	14147467	9989	15097										
ZNF180	7733	hgsc.bcm.edu	37	chr19	45001398	45001398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttccatgctctcctccaGgcacagcagggtgctgaggt	11	14	2	1	rs10423647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45001398G>A	ENST00000221327.4	-	2	351	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	ZNF180_ENST00000587047.1_Silent_p.A25A|ZNF180_ENST00000586637.1_5'UTR|ZNF180_ENST00000592529.1_5'UTR|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000391956.4_Silent_p.L24L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	24					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(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCTCCTCCAGGCACAGCAGG	0.622													G|||	453	0.0904553	0.3275	0.0173	5008	,	,		16153	0.0		0.004	False		,,,				2504	0.0041				p.L24L	Esophageal Squamous(180;1353 2003 32862 46574 49854)	Atlas-SNP	.											.	ZNF180	103	.	0			c.C70T						PASS	.	G		1089,3317	389.3+/-327.3	128,833,1242	42	39	40		70	2.5	0.2	19	dbSNP_119	40	10,8590	5.7+/-21.5	0,10,4290	no	coding-synonymous	ZNF180	NM_013256.3		128,843,5532	AA,AG,GG		0.1163,24.7163,8.4499		24/693	45001398	1099,11907	2203	4300	6503	SO:0001819	synonymous_variant	7733	exon2			CCTCCAGGCACAG	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.70C>T	19.37:g.45001398G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	44	20	0.454545	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	CCDS12639.1																																																																																			G|0.906;A|0.094	0.094	strong		0.622	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	45001398	G	A	45001398	2	1	22	1	0	0	0	0	0	0	0	1	17745	991	35	2		2	ZNF180	19	45001398	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19882	45001398	14127585	9990	15098										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45017301	45017301	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgacagccaggatcccgaTgacaataccagcgatggccc	10	13	0	2	rs34921521	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45017301T>C	ENST00000454753.1	-	0	1635							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGATCCCGATGACAATACCA	0.567											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	78	0.0155751	0.0575	0.0029	5008	,	,		15361	0.0		0.0	False		,,,				2504	0.0				p.I453V		Atlas-SNP	.											CEACAM20,NS,carcinoma,0,1	CEACAM20	31	1	0			c.A1357G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	166,3902		5,156,1873	76	76	76		1357,1078,1078,1357	-5.6	0	19	dbSNP_126	76	1,8347		0,1,4173	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	29,29,29,29	5,157,6046	CC,CT,TT		0.012,4.0806,1.345	benign,benign,benign,benign	453/597,360/492,360/504,453/585	45017301	167,12249	2034	4174	6208			125931	exon7			TCCCGATGACAAT	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017301T>C		Somatic	67	0	0	928	WXS	Illumina HiSeq	Phase_I	81	37	0.45679	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				T|0.986;C|0.014	0.014	strong		0.567	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		C	45017301	T	C	45017301	1	2	22	0	1	0	0	0	0	0	0	0	3191	1464	51	2		2	CEACAM20	19	45017301	RNA	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15903	45017301	14111682	9991	15099										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45029208	45029208	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacatcctcactttgggtgGcatcaagtgggttggcattg	12	9	2	0	rs10408247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45029208G>A	ENST00000454753.1	-	0	400							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACTTTGGGTGGCATCAAGTGG	0.567													G|||	1455	0.290535	0.6445	0.2911	5008	,	,		18869	0.1815		0.0765	False		,,,				2504	0.1442				p.A41V		Atlas-SNP	.											.	CEACAM20	31	.	0			c.C122T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2132,2024		560,1012,506	115	123	120		122,122,122,122	0	0	19	dbSNP_119	120	731,7695		31,669,3513	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	64,64,64,64	591,1681,4019	AA,AG,GG		8.6755,48.7007,22.7547	benign,benign,benign,benign	41/597,41/492,41/504,41/585	45029208	2863,9719	2078	4213	6291			125931	exon2			TGGGTGGCATCAA	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029208G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	165	164	0.993939	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				G|0.725;A|0.275	0.275	strong		0.567	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		A	45029208	G	A	45029208	1	1	22	0	1	0	0	0	0	0	0	0	3191	1203	42	2		2	CEACAM20	19	45029208	RNA	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11907	45029208	14099775	9992	15100										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45033485	45033485	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcagggcactcacctgaAagcaggattcccatccagtg	11	12	1	1	rs62116895	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45033485A>G	ENST00000454753.1	-	0	326							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACTCACCTGAAAGCAGGATTC	0.587													g|||	1067	0.213059	0.4569	0.1657	5008	,	,		16546	0.1587		0.0954	False		,,,				2504	0.0941				p.L16L		Atlas-SNP	.											.	CEACAM20	31	.	0			c.T48C						PASS	.		,,,	1683,2519		343,997,761	53	59	57		48,48,48,48	1.2	0.8	19	dbSNP_129	57	730,7710		38,654,3528	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	,,,	381,1651,4289	GG,GA,AA		8.6493,40.0524,19.0872	,,,	16/597,16/492,16/504,16/585	45033485	2413,10229	2101	4220	6321			125931	exon1			ACCTGAAAGCAGG	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45033485A>G		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_001102600		Silent	SNP	ENST00000454753.1	37																																																																																				A|0.815;G|0.185	0.185	strong		0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		G	45033485	A	G	45033485	1	3	22	0	1	0	0	0	0	0	0	0	3191	1	1	2		2	CEACAM20	19	45033485	RNA	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4277	45033485	14095498	9993	15101										
PVR	5817	hgsc.bcm.edu	37	chr19	45150763	45150763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgttcgggttgcgcgtagaGgatgaaggcaactacacctg	14	8	0	2	rs10421291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45150763G>A	ENST00000425690.3	+	2	647	c.348G>A	c.(346-348)gaG>gaA	p.E116E	PVR_ENST00000406449.4_Silent_p.E116E|PVR_ENST00000344956.4_Silent_p.E116E|PVR_ENST00000403059.4_Silent_p.E116E|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	116	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGCGCGTAGAGGATGAAGGCA	0.617													G|||	250	0.0499201	0.1755	0.0259	5008	,	,		10654	0.0		0.0	False		,,,				2504	0.0				p.E116E		Atlas-SNP	.											.	PVR	23	.	0			c.G348A						PASS	.	G	,,,	658,3748	275.2+/-272.4	60,538,1605	59	53	55		348,348,348,348	-5.9	0	19	dbSNP_119	55	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PVR	NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3	,,,	60,544,5899	AA,AG,GG		0.0698,14.9342,5.1053	,,,	116/373,116/365,116/393,116/418	45150763	664,12342	2203	4300	6503	SO:0001819	synonymous_variant	5817	exon2			CGTAGAGGATGAA	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.348G>A	19.37:g.45150763G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_001135769	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	CCDS12640.1																																																																																			G|0.937;A|0.063	0.063	strong		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		A	45150763	G	A	45150763	2	1	22	1	0	0	0	0	0	0	0	1	12837	991	35	2		2	PVR	19	45150763	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117278	45150763	13978220	9994	15102										
PVR	5817	hgsc.bcm.edu	37	chr19	45161070	45161070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctttgctgtggcccagggcGcccagctcctgatccgtcct	11	17	0	1	rs35365841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45161070G>A	ENST00000425690.3	+	5	1182	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	PVR_ENST00000406449.4_Missense_Mutation_p.A295T|PVR_ENST00000403059.4_Missense_Mutation_p.A295T|PVR_ENST00000344956.4_Missense_Mutation_p.A295T|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	295	Ig-like C2-type 2.		A -> T (in dbSNP:rs35365841).		adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCAGGGCGCCCAGCTCCT	0.587											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	257	0.0513179	0.1755	0.0259	5008	,	,		18444	0.0		0.001	False		,,,				2504	0.0061				p.A295T		Atlas-SNP	.											.	PVR	23	.	0			c.G883A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	656,3750	279.9+/-275.1	61,534,1608	61	53	55		883,883,883,883	-10.2	0	19	dbSNP_126	55	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense,missense,missense	PVR	NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3	58,58,58,58	61,542,5900	AA,AG,GG		0.093,14.8888,5.1053	benign,benign,benign,benign	295/373,295/365,295/393,295/418	45161070	664,12342	2203	4300	6503	SO:0001583	missense	5817	exon5			CAGGGCGCCCAGC	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.883G>A	19.37:g.45161070G>A	ENSP00000402060:p.Ala295Thr	Somatic	84	0	0	929	WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_001135769	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	116	0.05311355311355311	101	0.20528455284552846	14	0.03867403314917127	0	0.0	1	0.0013192612137203166	G	10.75	1.438622	0.25900	0.148888	9.3E-4	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.08	-10.2	0.00374	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.148170	0.02353	N	0.076098	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B;B;B;B	0.30361	0.038;0.154;0.097;0.277	B;B;B;B	0.28305	0.027;0.049;0.031;0.088	T	0.22765	-1.0207	9	0.14252	T	0.57	.	1.6961	0.02862	0.118:0.3407:0.2586:0.2827	rs35365841	295;295;295;295	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	T	295	ENSP00000340870:A295T;ENSP00000402060:A295T;ENSP00000383907:A295T;ENSP00000385344:A295T	ENSP00000340870:A295T	A	+	1	0	PVR	49852910	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-2.189000	0.01248	-2.865000	0.00325	-0.165000	0.13383	GCC	G|0.951;A|0.049	0.049	strong		0.587	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		A	45161070	G	A	45161070	3	1	22	1	0	0	0	0	1	0	0	0	12837	1087	38	1	901	1	PVR	19	45161070	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10307	45161070	13967913	9995	15103										
CBLC	23624	hgsc.bcm.edu	37	chr19	45281375	45281375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaggtggcccattctcggCgggcggccggcggaggcggc	21	12	1	1	rs115775900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45281375C>T	ENST00000270279.3	+	1	250	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	CBLC_ENST00000341505.4_Missense_Mutation_p.R63W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	63	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCATTCTcggcgggcggccgg	0.711			M		AML								c|||	64	0.0127796	0.0454	0.0043	5008	,	,		8428	0.0		0.0	False		,,,				2504	0.001				p.R63W		Atlas-SNP	.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC	41	.	0			c.C187T						PASS	.		TRP/ARG,TRP/ARG	85,3747		1,83,1832	8	11	10		187,187	-2.5	0	19	dbSNP_132	10	1,7799		0,1,3899	yes	missense,missense	CBLC	NM_001130852.1,NM_012116.3	101,101	1,84,5731	TT,TC,CC		0.0128,2.2182,0.7393	probably-damaging,probably-damaging	63/429,63/475	45281375	86,11546	1916	3900	5816	SO:0001583	missense	23624	exon1			TCTCGGCGGGCGG	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.187C>T	19.37:g.45281375C>T	ENSP00000270279:p.Arg63Trp	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	10	8	0.8	NM_001130852	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	32	0.014652014652014652	29	0.05894308943089431	3	0.008287292817679558	0	0.0	0	0.0	.	16.25	3.071238	0.55646	0.022182	1.28E-4	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76968	-1.06;-1.06	3.35	-2.49	0.06403	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.588184	0.13455	N	0.386611	T	0.40272	0.1110	M	0.65975	2.015	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.62491	0.903;0.756	T	0.63506	-0.6622	10	0.87932	D	0	-6.6255	10.0273	0.42079	0.6988:0.3012:0.0:0.0	.	63;63	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	W	63	ENSP00000270279:R63W;ENSP00000340250:R63W	ENSP00000270279:R63W	R	+	1	2	CBLC	49973215	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.696000	0.05104	-0.081000	0.12662	0.556000	0.70494	CGG	C|0.983;T|0.017	0.017	strong		0.711	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		T	45281375	C	T	45281375	3	4	22	1	0	0	0	0	1	0	0	0	2702	759	27	1	189	1	CBLC	19	45281375	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	120305	45281375	13847608	9996	15104										
CBLC	23624	hgsc.bcm.edu	37	chr19	45284495	45284495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgggctgagtttgagtccCtcctgggcacctgccaccct	11	16	0	2	rs114569424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45284495C>T	ENST00000270279.3	+	3	595	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	CBLC_ENST00000341505.4_Missense_Mutation_p.L178F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	178	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GTTTGAGTCCCTCCTGGGCAC	0.652			M		AML								c|||	39	0.00778754	0.0242	0.0058	5008	,	,		16049	0.0		0.0	False		,,,				2504	0.0031				p.L178F		Atlas-SNP	.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC	41	.	0			c.C532T						PASS	.		PHE/LEU,PHE/LEU	59,4347		0,59,2144	68	57	61		532,532	1.7	0	19	dbSNP_132	61	0,8600		0,0,4300	yes	missense,missense	CBLC	NM_001130852.1,NM_012116.3	22,22	0,59,6444	TT,TC,CC		0.0,1.3391,0.4536	probably-damaging,probably-damaging	178/429,178/475	45284495	59,12947	2203	4300	6503	SO:0001583	missense	23624	exon3			GAGTCCCTCCTGG	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.532C>T	19.37:g.45284495C>T	ENSP00000270279:p.Leu178Phe	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_001130852	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	21	0.009615384615384616	17	0.034552845528455285	4	0.011049723756906077	0	0.0	0	0.0	.	12.98	2.099594	0.37048	0.013391	0.0	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.87256	-2.23;-2.23	3.95	1.72	0.24424	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.976806	0.08347	N	0.959896	T	0.74238	0.3690	L	0.57536	1.79	0.09310	N	1	D;D	0.61697	0.958;0.99	P;P	0.53549	0.682;0.729	T	0.68142	-0.5487	10	0.23891	T	0.37	-15.6691	7.2319	0.26046	0.1838:0.4585:0.3578:0.0	.	178;178	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	F	178	ENSP00000270279:L178F;ENSP00000340250:L178F	ENSP00000270279:L178F	L	+	1	0	CBLC	49976335	0.003000	0.15002	0.005000	0.12908	0.756000	0.42949	1.111000	0.31159	0.318000	0.23185	0.306000	0.20318	CTC	C|0.994;T|0.006	0.006	strong		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		T	45284495	C	T	45284495	3	4	22	1	0	0	0	0	1	0	0	0	2702	681	24	2	542	2	CBLC	19	45284495	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3120	45284495	13844488	9997	15105										
CBLC	23624	hgsc.bcm.edu	37	chr19	45285734	45285734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcgtctgcaggcctgcagGgacaagccaggcaggtaaag	16	10	1	0	rs10416628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45285734G>A	ENST00000270279.3	+	4	828	c.765G>A	c.(763-765)agG>agA	p.R255R	CBLC_ENST00000341505.4_Silent_p.R255R	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	255	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGGCCTGCAGGGACAAGCCAG	0.612			M		AML								G|||	144	0.028754	0.1021	0.013	5008	,	,		17150	0.0		0.0	False		,,,				2504	0.0				p.R255R		Atlas-SNP	.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC	41	.	0			c.G765A						PASS	.	G	,	407,3999		15,377,1811	62	57	59		765,765	-2.1	1	19	dbSNP_119	59	4,8596		0,4,4296	no	coding-synonymous,coding-synonymous	CBLC	NM_001130852.1,NM_012116.3	,	15,381,6107	AA,AG,GG		0.0465,9.2374,3.1601	,	255/429,255/475	45285734	411,12595	2203	4300	6503	SO:0001819	synonymous_variant	23624	exon4			CTGCAGGGACAAG	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.765G>A	19.37:g.45285734G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_001130852	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	CCDS12643.1																																																																																			G|0.958;A|0.042	0.042	strong		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		A	45285734	G	A	45285734	2	1	22	1	0	0	0	0	0	0	0	1	2702	1223	43	2		2	CBLC	19	45285734	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1239	45285734	13843249	9998	15106										
CBLC	23624	hgsc.bcm.edu	37	chr19	45296846	45296847	+	Frame_Shift_Ins	INS	-	-	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactcagggaacagcagtgaINSccaggaaggcagggagttgg					rs66944506|rs77920506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45296846_45296847insC	ENST00000270279.3	+	8	1316_1317	c.1253_1254insC	c.(1252-1257)gaccagfs	p.Q419fs	CBLC_ENST00000341505.4_Frame_Shift_Ins_p.Q373fs	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	419	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AACAGCAGTGACCAGGAAGGCA	0.629			M		AML								CC|CC|CCC|insertion	434	0.0866613	0.2148	0.0245	5008	,	,		17683	0.0962		0.002	False		,,,				2504	0.0348				p.D418fs		Pindel,Atlas-Indel	.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC	41	.	0			c.1253_1254insC						PASS	.		,	780,3484		76,628,1428					,	0.9	0		dbSNP_130	36	24,8230		1,22,4104	no	frameshift,frameshift	CBLC	NM_012116.3,NM_001130852.1	,	77,650,5532	A1A1,A1R,RR		0.2908,18.2927,6.4228	,	,		804,11714				SO:0001589	frameshift_variant	23624	exon8			.	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1255dupC	19.37:g.45296848_45296848dupC	ENSP00000270279:p.Gln419fs	Somatic	52	.	.		WXS	Illumina HiSeq	Phase_I	65	28	0.431	NM_012116	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Frame_Shift_Ins	INS	ENST00000270279.3	37	CCDS12643.1																																																																																			-|0.926;C|0.074	0.074	strong		0.629	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		C	45296847	-	C	45296846	7	5	22	1	0	1	1	0	0	0	0	0	2702	275	10	0	1283	0	CBLC	19	45296846	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	11112	45296846	13832137	9999	15107										
BCAM	4059	hgsc.bcm.edu	37	chr19	45316804	45316804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagacgccagcttccactgCgccgcccactacagcctgcc	9	20	0	1	rs3810141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45316804C>T	ENST00000270233.6	+	6	733	c.711C>T	c.(709-711)tgC>tgT	p.C237C	BCAM_ENST00000589651.1_Silent_p.C237C	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	237	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTTCCACTGCGCCGCCCACT	0.692													C|||	501	0.10004	0.087	0.0893	5008	,	,		14090	0.0466		0.0815	False		,,,				2504	0.1994				p.C237C		Atlas-SNP	.											.	BCAM	53	.	0			c.C711T	GRCh37	CM973376	BCAM	M	rs3810141	PASS	.	C	,	401,4001		20,361,1820	39	45	43	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	711,711	-3.5	0.1	19	dbSNP_107	43	526,8060		18,490,3785	no	coding-synonymous,coding-synonymous	BCAM	NM_001013257.1,NM_005581.3	,	38,851,5605	TT,TC,CC		6.1263,9.1095,7.1374	,	237/589,237/629	45316804	927,12061	2201	4293	6494	SO:0001819	synonymous_variant	4059	exon6			CCACTGCGCCGCC	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.711C>T	19.37:g.45316804C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	116	64	0.551724	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	CCDS12644.1																																																																																			T|0.064;C|0.936	0.064	strong		0.692	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		T	45316804	C	T	45316804	2	4	22	1	0	0	0	0	0	0	0	1	1344	776	27	1		1	BCAM	19	45316804	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19958	45316804	13812179	10000	15108										
PVRL2	5819	hgsc.bcm.edu	37	chr19	45368805	45368805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagaggcagagctccaggaCgccacgctggccctccacgg	13	16	0	2	rs34929997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45368805C>T	ENST00000252483.5	+	2	366	c.366C>T	c.(364-366)gaC>gaT	p.D122D	PVRL2_ENST00000252485.4_Silent_p.D122D	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	122	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AGCTCCAGGACGCCACGCTGG	0.662													T|||	87	0.0173722	0.0651	0.0	5008	,	,		19055	0.0		0.001	False		,,,				2504	0.0				p.D122D		Atlas-SNP	.											.	PVRL2	58	.	0			c.C366T						PASS	.	T	,	215,4179		4,207,1986	22	20	20		366,366	-6.6	0.3	19	dbSNP_126	20	4,8566		0,4,4281	no	coding-synonymous,coding-synonymous	PVRL2	NM_001042724.1,NM_002856.2	,	4,211,6267	TT,TC,CC		0.0467,4.893,1.6893	,	122/539,122/480	45368805	219,12745	2197	4285	6482	SO:0001819	synonymous_variant	5819	exon2			CCAGGACGCCACG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.366C>T	19.37:g.45368805C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	33	11	0.333333	NM_002856	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	CCDS42576.1																																																																																			C|0.980;T|0.020	0.020	strong		0.662	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		T	45368805	C	T	45368805	2	4	22	1	0	0	0	0	0	0	0	1	12840	535	19	1		1	PVRL2	19	45368805	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52001	45368805	13760178	10001	15109										
APOC2	344	hgsc.bcm.edu	37	chr19	45452429	45452429	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccagggacttgtacagcAaaagcacagcagccatgagc	10	13	0	1	rs5126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45452429A>C	ENST00000590360.1	+	4	351	c.229A>C	c.(229-231)Aaa>Caa	p.K77Q	APOC2_ENST00000591597.1_Missense_Mutation_p.K63Q|APOC2_ENST00000252490.4_Missense_Mutation_p.K77Q|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.K154Q|APOC2_ENST00000592257.1_3'UTR|APOC4_ENST00000419266.2_3'UTR|APOC2_ENST00000585786.1_3'UTR			P02655	APOC2_HUMAN	apolipoprotein C-II	77	Lipoprotein lipase cofactor.		K -> Q (in Africa; dbSNP:rs5126). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:3944271}.		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		CTTGTACAGCAAAAGCACAGC	0.567													A|||	39	0.00778754	0.0287	0.0014	5008	,	,		15843	0.0		0.0	False		,,,				2504	0.0				p.K77Q		Atlas-SNP	.											.	APOC2	9	.	0			c.A229C						PASS	.	A	GLN/LYS	85,4321	47.5+/-82.1	1,83,2119	79	66	71	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	229	2	0.4	19	dbSNP_52	71	0,8600		0,0,4300	yes	missense	APOC2	NM_000483.4	53	1,83,6419	CC,CA,AA		0.0,1.9292,0.6535	probably-damaging	77/102	45452429	85,12921	2203	4300	6503	SO:0001583	missense	344	exon4			TACAGCAAAAGCA	X00568	CCDS12650.1	19q13.2	2013-01-24			ENSG00000234906	ENSG00000234906		"Apolipoproteins"	609	protein-coding gene	gene with protein product		608083					Standard	NM_000483		Approved			P02655	OTTHUMG00000180847	ENST00000590360.1:c.229A>C	19.37:g.45452429A>C	ENSP00000466775:p.Lys77Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	123	59	0.479675	NM_000483	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000590360.1	37	CCDS12650.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	A	15.05	2.717211	0.48622	0.019292	0.0	ENSG00000234906	ENST00000252490	D	0.86164	-2.08	4.25	1.97	0.26223	ApoC-II domain (1);	0.331465	0.21058	U	0.080867	T	0.66616	0.2807	M	0.77820	2.39	0.19300	N	0.999973	P	0.39216	0.664	B	0.36504	0.226	T	0.68573	-0.5373	10	0.48119	T	0.1	-0.0013	4.4429	0.11582	0.621:0.2662:0.1128:0.0	rs5126;rs52806093;rs5126	77	P02655	APOC2_HUMAN	Q	77	ENSP00000252490:K77Q	ENSP00000252490:K77Q	K	+	1	0	APOC2	50144269	0.077000	0.21312	0.448000	0.26945	0.770000	0.43624	0.076000	0.14712	0.113000	0.18004	0.323000	0.21402	AAA	A|0.991;C|0.009	0.009	strong		0.567	APOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453261.1	NM_000483		C	45452429	A	C	45452429	3	2	22	1	0	0	0	0	1	0	0	0	798	131	5	5	239	5	APOC2	19	45452429	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	83624	45452429	13676554	10002	15110										
CLPTM1	1209	hgsc.bcm.edu	37	chr19	45490570	45490570	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccgcgtctccttctgcccActctcgctttggcgctggca	9	18	3	0	rs3786505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45490570A>G	ENST00000337392.5	+	8	1077	c.927A>G	c.(925-927)ccA>ccG	p.P309P	CLPTM1_ENST00000541297.2_Silent_p.P295P|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.P207P	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	309					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)		CCTTCTGCCCACTCTCGCTTT	0.577													G|||	2137	0.426717	0.4788	0.4222	5008	,	,		19997	0.5288		0.341	False		,,,				2504	0.3425				p.P309P		Atlas-SNP	.											.	CLPTM1	109	.	0			c.A927G						PASS	.	G		2131,2275	598.7+/-389.1	502,1127,574	100	103	102		927	-9.3	0.7	19	dbSNP_107	102	2764,5836	678.7+/-403.5	456,1852,1992	no	coding-synonymous	CLPTM1	NM_001294.2		958,2979,2566	GG,GA,AA		32.1395,48.3659,37.6365		309/670	45490570	4895,8111	2203	4300	6503	SO:0001819	synonymous_variant	1209	exon8			CTGCCCACTCTCG	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.927A>G	19.37:g.45490570A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	102	55	0.539216	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	CCDS12651.1																																																																																			A|0.596;G|0.404	0.404	strong		0.577	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		G	45490570	A	G	45490570	2	3	22	1	0	0	0	0	0	0	0	1	3554	146	6	2		2	CLPTM1	19	45490570	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	38141	45490570	13638413	10003	15111										
SFRS16	11129	hgsc.bcm.edu	37	chr19	45561014	45561014	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccctttctcaggctggcAgagaagaaggcttccatcgg	11	13	1	2	rs76953457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45561014A>G	ENST00000221455.3	+	7	569	c.471A>G	c.(469-471)gcA>gcG	p.A157A	CLASRP_ENST00000391953.4_Silent_p.A95A|CLASRP_ENST00000544944.2_Silent_p.A157A	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	157					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TCAGGCTGGCAGAGAAGAAGG	0.637													A|||	50	0.00998403	0.034	0.0072	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0				p.A157A		Atlas-SNP	.											.	CLASRP	44	.	0			c.A471G						PASS	.	A		108,4298	85.3+/-124.0	1,106,2096	111	99	103		471	-5.3	0.9	19	dbSNP_131	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLASRP	NM_007056.2		1,107,6395	GG,GA,AA		0.0116,2.4512,0.8381		157/675	45561014	109,12897	2203	4300	6503	SO:0001819	synonymous_variant	11129	exon7			GCTGGCAGAGAAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.471A>G	19.37:g.45561014A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	70	29	0.414286	NM_007056	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	CCDS12652.2																																																																																			A|0.990;G|0.010	0.010	strong		0.637	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		G	45561014	A	G	45561014	2	3	22	1	0	0	0	0	0	0	0	1	14172	175	7	3		3	SFRS16	19	45561014	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	70444	45561014	13567969	10004	15112										
EXOC3L2	90332	hgsc.bcm.edu	37	chr19	45719426	45719426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccaaatggggcaccacGgcatccagccacgaggcctg	12	15	1	0	rs34958174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45719426G>A	ENST00000252482.3	-	8	873	c.846C>T	c.(844-846)gcC>gcT	p.A282A	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Silent_p.A282A			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	282					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGGGCACCACGGCATCCAGCC	0.632													G|||	266	0.053115	0.1914	0.0187	5008	,	,		16902	0.0		0.0	False		,,,				2504	0.0				p.A282A		Atlas-SNP	.											.	EXOC3L2	30	.	0			c.C846T						PASS	.	G		636,3770	254.0+/-259.7	55,526,1622	51	40	44		846	-9.1	0.6	19	dbSNP_126	44	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	EXOC3L2	NM_138568.3		55,529,5919	AA,AG,GG		0.0349,14.4349,4.9131		282/410	45719426	639,12367	2203	4300	6503	SO:0001819	synonymous_variant	90332	exon9			CACCACGGCATCC	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.846C>T	19.37:g.45719426G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	113	54	0.477876	NM_138568	Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	CCDS12657.1																																																																																			G|0.946;A|0.054	0.054	strong		0.632	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		A	45719426	G	A	45719426	2	1	22	1	0	0	0	0	0	0	0	1	5305	1103	39	1		1	EXOC3L2	19	45719426	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	158412	45719426	13409557	10005	15113										
CKM	1158	hgsc.bcm.edu	37	chr19	45815033	45815033	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacgggcgtcgggccagtcGcgggccatgcctgaggccag	17	15	0	1	rs17875616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45815033G>T	ENST00000221476.3	-	5	801	c.627C>A	c.(625-627)cgC>cgA	p.R209R		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	209	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CGGGCCAGTCGCGGGCCATGC	0.672													G|||	353	0.0704872	0.1256	0.0476	5008	,	,		11665	0.0		0.0736	False		,,,				2504	0.0818				p.R209R		Atlas-SNP	.											CKM,rectum,carcinoma,0,2	CKM	40	2	0			c.C627A						PASS	.	G		455,3949		21,413,1768	30	24	26		627	-10.4	0.1	19	dbSNP_124	26	579,8019		21,537,3741	no	coding-synonymous	CKM	NM_001824.3		42,950,5509	TT,TG,GG		6.7341,10.3315,7.9526		209/382	45815033	1034,11968	2202	4299	6501	SO:0001819	synonymous_variant	1158	exon5			CCAGTCGCGGGCC	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.627C>A	19.37:g.45815033G>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_001824	Q96QL9	Silent	SNP	ENST00000221476.3	37	CCDS12659.1																																																																																			G|0.928;T|0.072	0.072	strong		0.672	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			T	45815033	G	T	45815033	2	4	22	1	0	0	0	0	0	0	0	1	3448	1074	38	4		4	CKM	19	45815033	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95607	45815033	13313950	10006	15114										
KLC3	147700	hgsc.bcm.edu	37	chr19	45848946	45848946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctggctgggcacctggcGgaggccctggcgggacaggg	21	12	0	0	rs114640964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45848946G>A	ENST00000391946.2	+	2	249	c.147G>A	c.(145-147)gcG>gcA	p.A49A	KLC3_ENST00000470402.1_Silent_p.A63A|KLC3_ENST00000585434.1_Silent_p.A49A	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	49					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCACCTGGCGGAGGCCCTGG	0.716													g|||	75	0.014976	0.0552	0.0029	5008	,	,		13066	0.0		0.0	False		,,,				2504	0.0				p.A49A		Atlas-SNP	.											.	KLC3	37	.	0			c.G147A						PASS	.	A		150,3632		0,150,1741	5	8	7		147	-4.1	0.9	19	dbSNP_132	7	2,7914		0,2,3956	no	coding-synonymous	KLC3	NM_177417.2		0,152,5697	AA,AG,GG		0.0253,3.9662,1.2994		49/505	45848946	152,11546	1891	3958	5849	SO:0001819	synonymous_variant	147700	exon2			CCTGGCGGAGGCC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.147G>A	19.37:g.45848946G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_177417	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	ENST00000391946.2	37	CCDS12660.2																																																																																			G|0.990;A|0.010	0.010	strong		0.716	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		A	45848946	G	A	45848946	2	1	22	1	0	0	0	0	0	0	0	1	8335	1103	39	1		1	KLC3	19	45848946	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33913	45848946	13280037	10007	15115										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912002	45912002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaagaagcccaaagggaAagaaaccttcgagccagaag	13	8	0	3	rs735482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45912002A>C	ENST00000309424.3	+	3	1264	c.776A>C	c.(775-777)aAa>aCa	p.K259T	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K261T|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	259			K -> T (in dbSNP:rs735482).		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)		CCCAAAGGGAAAGAAACCTTC	0.547													C|||	1436	0.286741	0.3109	0.2233	5008	,	,		15739	0.4613		0.1322	False		,,,				2504	0.2781				p.K259T		Atlas-SNP	.											.	CD3EAP	27	.	0			c.A776C						PASS	.	C	,,THR/LYS	1193,3213	689.1+/-405.1	169,855,1179	67	70	69		,,776	-1.8	0	19	dbSNP_86	69	1160,7440	741.9+/-407.2	81,998,3221	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,78	250,1853,4400	CC,CA,AA		13.4884,27.0767,18.0917	,,benign	,,259/511	45912002	2353,10653	2203	4300	6503	SO:0001583	missense	10849	exon3			AAGGGAAAGAAAC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.776A>C	19.37:g.45912002A>C	ENSP00000310966:p.Lys259Thr	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	570	0.260989010989011	131	0.266260162601626	72	0.19889502762430938	259	0.4527972027972028	108	0.1424802110817942	C	8.088	0.773935	0.16051	0.270767	0.134884	ENSG00000117877	ENST00000309424	T	0.11495	2.77	5.06	-1.76	0.08006	.	0.717583	0.12315	N	0.479769	T	0.00012	0.0000	N	0.00621	-1.32	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42749	-0.9433	9	0.14656	T	0.56	0.2029	1.8433	0.03154	0.1195:0.3621:0.259:0.2595	rs735482;rs61340218;rs735482	261;259	O15446-2;O15446	.;RPA34_HUMAN	T	259	ENSP00000310966:K259T	ENSP00000310966:K259T	K	+	2	0	CD3EAP	50603842	0.006000	0.16342	0.007000	0.13788	0.245000	0.25701	0.192000	0.17096	-0.095000	0.12351	-0.217000	0.12591	AAA	A|0.771;C|0.229	0.229	strong		0.547	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		C	45912002	A	C	45912002	3	2	22	1	0	0	0	0	1	0	0	0	3012	14	1	5	786	5	CD3EAP	19	45912002	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	63056	45912002	13216981	10008	15116										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912343	45912343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaacagccagaaggagcgAagcctcaggcccaggcagct	12	14	2	1	rs762562	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45912343A>G	ENST00000309424.3	+	3	1605	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K375E|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	373			K -> E (in dbSNP:rs762562).		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)		AGAAGGAGCGAAGCCTCAGGC	0.617													G|||	1436	0.286741	0.3109	0.2233	5008	,	,		16994	0.4613		0.1322	False		,,,				2504	0.2781				p.K373E		Atlas-SNP	.											CD3EAP,NS,carcinoma,0,1	CD3EAP	27	1	0			c.A1117G						PASS	.	G	,,GLU/LYS	1183,3221		168,847,1187	39	48	45		,,1117	1.6	0	19	dbSNP_86	45	1150,7450		79,992,3229	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,56	247,1839,4416	GG,GA,AA		13.3721,26.8619,17.9406	,,benign	,,373/511	45912343	2333,10671	2202	4300	6502	SO:0001583	missense	10849	exon3			GGAGCGAAGCCTC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1117A>G	19.37:g.45912343A>G	ENSP00000310966:p.Lys373Glu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	570	0.260989010989011	131	0.266260162601626	72	0.19889502762430938	259	0.4527972027972028	108	0.1424802110817942	G	1.401	-0.578050	0.03854	0.268619	0.133721	ENSG00000117877	ENST00000309424	T	0.09911	2.93	5.4	1.59	0.23543	.	0.794983	0.10950	N	0.616167	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47071	-0.9145	9	0.02654	T	1	-2.1051	5.1222	0.14865	0.3446:0.1515:0.5039:0.0	rs762562;rs56437955;rs60195558;rs762562	375;373	O15446-2;O15446	.;RPA34_HUMAN	E	373	ENSP00000310966:K373E	ENSP00000310966:K373E	K	+	1	0	CD3EAP	50604183	0.005000	0.15991	0.000000	0.03702	0.013000	0.08279	0.970000	0.29383	0.267000	0.21916	-0.215000	0.12644	AAG	A|0.774;G|0.226	0.226	strong		0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		G	45912343	A	G	45912343	3	3	22	1	0	0	0	0	1	0	0	0	3012	247	9	2	1127	2	CD3EAP	19	45912343	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	341	45912343	13216640	10009	15117										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912406	45912406	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaagaaagaaaaacagcaaGatgccacagtggagccagag	12	8	0	4	rs2336219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45912406G>A	ENST00000309424.3	+	3	1668	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.D396N|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	394			D -> N (in dbSNP:rs2336219).		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)		AAAACAGCAAGATGCCACAGT	0.577													A|||	1415	0.282548	0.298	0.219	5008	,	,		17482	0.4613		0.1322	False		,,,				2504	0.2771				p.D394N		Atlas-SNP	.											.	CD3EAP	27	.	0			c.G1180A						PASS	.	A	,,ASN/ASP	1113,3281		150,813,1234	57	70	65		,,1180	-2.1	0	19	dbSNP_100	65	1133,7443		77,979,3232	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,23	227,1792,4466	AA,AG,GG		13.2113,25.33,17.3169	,,benign	,,394/511	45912406	2246,10724	2197	4288	6485	SO:0001583	missense	10849	exon3			CAGCAAGATGCCA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1180G>A	19.37:g.45912406G>A	ENSP00000310966:p.Asp394Asn	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	61	31	0.508197	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	562	0.2573260073260073	125	0.2540650406504065	70	0.19337016574585636	259	0.4527972027972028	108	0.1424802110817942	A	2.513	-0.312418	0.05422	0.2533	0.132113	ENSG00000117877	ENST00000309424	T	0.11712	2.75	5.46	-2.07	0.07276	.	1.771500	0.03042	N	0.153457	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45716	-0.9242	9	0.02654	T	1	0.0578	10.4878	0.44733	0.1931:0.1532:0.6537:0.0	rs2336219;rs61002808;rs2336219	396;394	O15446-2;O15446	.;RPA34_HUMAN	N	394	ENSP00000310966:D394N	ENSP00000310966:D394N	D	+	1	0	CD3EAP	50604246	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.647000	0.05397	-0.620000	0.05641	-0.361000	0.07541	GAT	G|0.767;A|0.233	0.233	strong		0.577	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		A	45912406	G	A	45912406	3	1	22	1	0	0	0	0	1	0	0	0	3012	942	33	2	1190	2	CD3EAP	19	45912406	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63	45912406	13216577	10010	15118										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912736	45912736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgggacaagaagcggaagCagcagcagcagcagcctgtg	16	11	0	1	rs3212986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45912736C>A	ENST00000309424.3	+	3	1998	c.1510C>A	c.(1510-1512)Cag>Aag	p.Q504K	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.Q506K|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	504	Poly-Gln.		Q -> K (in dbSNP:rs3212986). {ECO:0000269|PubMed:15489334}.		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)		GAAGCGGAAGCAGCAGCAGCA	0.617													A|||	1478	0.295128	0.2912	0.3545	5008	,	,		14891	0.2986		0.2505	False		,,,				2504	0.3006				p.Q504K		Atlas-SNP	.											.	CD3EAP	27	.	0			c.C1510A	GRCh37	CM005461	CD3EAP	M	rs3212986	PASS	.	A	,,LYS/GLN	1274,3100		195,884,1108	15	16	16		,,1510	2.7	0	19	dbSNP_106	16	2109,6467		259,1591,2438	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,53	454,2475,3546	AA,AC,CC		24.5919,29.1267,26.1236	,,benign	,,504/511	45912736	3383,9567	2187	4288	6475	SO:0001583	missense	10849	exon3			CGGAAGCAGCAGC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1510C>A	19.37:g.45912736C>A	ENSP00000310966:p.Gln504Lys	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	24	8	0.333333	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	641	0.2934981684981685	151	0.30691056910569103	125	0.3453038674033149	162	0.28321678321678323	203	0.2678100263852243	A	0.114	-1.133957	0.01742	0.291267	0.245919	ENSG00000117877	ENST00000309424	T	0.08984	3.03	4.82	2.68	0.31781	.	0.765358	0.10689	N	0.645497	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.47611	-0.9104	9	0.02654	T	1	.	5.6432	0.17575	0.5816:0.3274:0.091:0.0	rs3212986;rs60333438;rs3212986	506;504	O15446-2;O15446	.;RPA34_HUMAN	K	504	ENSP00000310966:Q504K	ENSP00000310966:Q504K	Q	+	1	0	CD3EAP	50604576	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.397000	0.02511	0.209000	0.20645	-2.053000	0.00404	CAG	C|0.723;A|0.277	0.277	strong		0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		A	45912736	C	A	45912736	3	1	22	1	0	0	0	0	1	0	0	0	3012	711	25	4	1520	4	CD3EAP	19	45912736	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	330	45912736	13216247	10011	15119										
ERCC1	2067	hgsc.bcm.edu	37	chr19	45923653	45923653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgccaaattcccagggcacAttgcgcacgaacttcagtac	8	14	1	0	rs11615	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45923653A>G	ENST00000300853.3	-	4	945	c.354T>C	c.(352-354)aaT>aaC	p.N118N	ERCC1_ENST00000013807.5_Silent_p.N118N|ERCC1_ENST00000591636.1_Silent_p.N118N|ERCC1_ENST00000340192.7_Silent_p.N118N|ERCC1_ENST00000589165.1_Silent_p.N118N|ERCC1_ENST00000423698.2_Silent_p.N46N	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	118					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCCAGGGCACATTGCGCACGA	0.597								Nucleotide excision repair (NER)					G|||	3350	0.66893	0.9629	0.6124	5008	,	,		17729	0.7381		0.3777	False		,,,				2504	0.5399				p.N118N		Atlas-SNP	.											.	ERCC1	46	.	0			c.T354C						PASS	.	A	,,	3823,583	770.6+/-413.7	1657,509,37	110	83	92		354,354,354	-10.5	0.4	19	dbSNP_52	92	3201,5399	480.4+/-370.4	582,2037,1681	yes	coding-synonymous,coding-synonymous,coding-synonymous	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	,,	2239,2546,1718	GG,GA,AA		37.2209,13.232,45.9942	,,	118/274,118/298,118/324	45923653	7024,5982	2203	4300	6503	SO:0001819	synonymous_variant	2067	exon4			GGGCACATTGCGC		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.354T>C	19.37:g.45923653A>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	59	58	0.983051	NM_001983	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	CCDS12662.1																																																																																			A|0.403;G|0.597	0.597	strong		0.597	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		G	45923653	A	G	45923653	2	3	22	1	0	0	0	0	0	0	0	1	5212	214	8	2		2	ERCC1	19	45923653	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10917	45923653	13205330	10012	15120										
FOSB	2354	hgsc.bcm.edu	37	chr19	45971961	45971961	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagtccacccaccgccgcCgcctcccaggtaagtttttg	10	17	0	0	rs2282695	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:45971961C>G	ENST00000353609.3	+	1	709	c.117C>G	c.(115-117)gcC>gcG	p.A39A	FOSB_ENST00000417353.2_Silent_p.A39A|FOSB_ENST00000443841.2_Silent_p.A39A|FOSB_ENST00000592436.1_Silent_p.A39A|FOSB_ENST00000591858.1_Silent_p.A39A|FOSB_ENST00000590335.1_Silent_p.A39A|FOSB_ENST00000586615.1_5'Flank|FOSB_ENST00000585836.1_Silent_p.A39A|FOSB_ENST00000592811.1_5'Flank|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	39					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCACCGCCGCCGCCTCCCAGG	0.542													C|||	1990	0.397364	0.6362	0.1931	5008	,	,		14631	0.2292		0.3449	False		,,,				2504	0.4468				p.A39A		Atlas-SNP	.											.	FOSB	29	.	0			c.C117G						PASS	.		,	2435,1965		701,1033,466	39	50	46		117,117	4.3	1	19	dbSNP_100	46	2736,5856		480,1776,2040	no	coding-synonymous,coding-synonymous	FOSB	NM_001114171.1,NM_006732.2	,	1181,2809,2506	GG,GC,CC		31.8436,44.6591,39.8014	,	39/303,39/339	45971961	5171,7821	2200	4296	6496	SO:0001819	synonymous_variant	2354	exon1			CGCCGCCGCCTCC		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.117C>G	19.37:g.45971961C>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	54	0.981818	NM_001114171	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	CCDS12664.1																																																																																			C|0.632;G|0.368	0.368	strong		0.542	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		G	45971961	C	G	45971961	2	3	22	1	0	0	0	0	0	0	0	1	5986	639	23	4		4	FOSB	19	45971961	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48308	45971961	13157022	10013	15121										
EML2	24139	hgsc.bcm.edu	37	chr19	46142624	46142624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggtctcacccagctccaAagctactcatggcggcgggt	12	13	2	0	rs201822741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46142624A>C	ENST00000245925.3	-	1	61	c.11T>G	c.(10-12)tTt>tGt	p.F4C	EML2_ENST00000589876.1_Missense_Mutation_p.F4C|AC006132.1_ENST00000593161.1_5'Flank|MIR330_ENST00000362196.1_RNA|EML2_ENST00000587152.1_Intron|EML2_ENST00000536630.1_Intron	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	4					negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCCAGCTCCAAAGCTACTCAT	0.726													A|||	48	0.00958466	0.0325	0.0072	5008	,	,		12182	0.0		0.0	False		,,,				2504	0.0				p.F4C		Atlas-SNP	.											.	EML2	64	.	0			c.T11G						PASS	.		,,CYS/PHE	90,4006		0,90,1958	15	17	16		,,11	4.6	1	19	dbSNP_134	16	1,8033		0,1,4016	yes	intron,intron,missense	EML2	NM_001193268.1,NM_001193269.1,NM_012155.2	,,205	0,91,5974	CC,CA,AA		0.0124,2.1973,0.7502	,,	,,4/650	46142624	91,12039	2048	4017	6065	SO:0001583	missense	24139	exon1			GCTCCAAAGCTAC	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.11T>G	19.37:g.46142624A>C	ENSP00000245925:p.Phe4Cys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	56	29	0.517857	NM_012155	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	13	0.005952380952380952	8	0.016260162601626018	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	A	14.61	2.585437	0.46110	0.021973	1.24E-4	ENSG00000125746	ENST00000245925	T	0.26067	1.76	4.58	4.58	0.56647	.	1.865290	0.03249	U	0.181627	T	0.26666	0.0652	L	0.29908	0.895	0.80722	D	1	D;B	0.76494	0.999;0.118	D;B	0.74674	0.984;0.053	T	0.03034	-1.1080	10	0.59425	D	0.04	44.314	10.2951	0.43618	1.0:0.0:0.0:0.0	.	4;4	B7Z918;O95834	.;EMAL2_HUMAN	C	4	ENSP00000245925:F4C	ENSP00000245925:F4C	F	-	2	0	EML2	50834464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.633000	0.54295	1.932000	0.55993	0.454000	0.30748	TTT	A|0.994;C|0.006	0.006	strong		0.726	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		C	46142624	A	C	46142624	3	2	22	1	0	0	0	0	1	0	0	0	5097	14	1	5	2014	5	EML2	19	46142624	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	170663	46142624	12986359	10014	15122										
SYMPK	8189	hgsc.bcm.edu	37	chr19	46319415	46319415	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccggggtgctggggccggGgccaaggtcaggggctccag	22	11	1	0	rs1132645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46319415G>C	ENST00000245934.7	-	26	3625	c.3381C>G	c.(3379-3381)gcC>gcG	p.A1127A	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1127					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)		CTGGGGCCGGGGCCAAGGTCA	0.652													G|||	1793	0.358027	0.2905	0.232	5008	,	,		11505	0.6409		0.3181	False		,,,				2504	0.2883				p.A1127A		Atlas-SNP	.											.	SYMPK	104	.	0			c.C3381G						PASS	.						3	3	3					19																	46319415		1528	3134	4662	SO:0001819	synonymous_variant	8189	exon26			GGCCGGGGCCAAG	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.3381C>G	19.37:g.46319415G>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	51	25	0.490196	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																			G|0.613;C|0.387	0.387	strong		0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		C	46319415	G	C	46319415	2	2	22	1	0	0	0	0	0	0	0	1	15436	1219	43	4		4	SYMPK	19	46319415	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	176791	46319415	12809568	10015	15123										
FOXA3	3171	hgsc.bcm.edu	37	chr19	46375779	46375779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccactcgctgtctttcaaCgactgcttcgtcaaggtggc	10	14	3	0	rs16980091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46375779C>T	ENST00000302177.2	+	2	713	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	172					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGTCTTTCAACGACTGCTTCG	0.562													C|||	1153	0.230232	0.3147	0.1138	5008	,	,		14151	0.369		0.1133	False		,,,				2504	0.1759				p.N172N		Atlas-SNP	.											.	FOXA3	19	.	0			c.C516T						PASS	.	C		1196,3210	417.8+/-338.1	158,880,1165	69	66	67		516	0	1	19	dbSNP_123	67	860,7740	195.6+/-240.8	56,748,3496	no	coding-synonymous	FOXA3	NM_004497.2		214,1628,4661	TT,TC,CC		10.0,27.1448,15.8081		172/351	46375779	2056,10950	2203	4300	6503	SO:0001819	synonymous_variant	3171	exon2			TTTCAACGACTGC	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.516C>T	19.37:g.46375779C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_004497	A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	CCDS12677.1																																																																																			C|0.807;T|0.193	0.193	strong		0.562	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			T	46375779	C	T	46375779	2	4	22	1	0	0	0	0	0	0	0	1	5991	535	19	1		1	FOXA3	19	46375779	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	56364	46375779	12753204	10016	15124										
IRF2BP1	26145	hgsc.bcm.edu	37	chr19	46387344	46387344	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggcgatctcgccctgcatGaaggcccagggcacggagga	16	12	1	1	rs11550348	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46387344G>A	ENST00000302165.3	-	1	2032	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCCTGCATGAAGGCCCAGG	0.652											OREG0025563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	684	0.136581	0.3185	0.1023	5008	,	,		14190	0.001		0.1034	False		,,,				2504	0.089				p.F563F		Atlas-SNP	.											.	IRF2BP1	23	.	0			c.C1689T						PASS	.	G		1262,3144	427.0+/-341.4	202,858,1143	57	52	54		1689	1.2	1	19	dbSNP_120	54	1115,7485	229.1+/-263.9	85,945,3270	no	coding-synonymous	IRF2BP1	NM_015649.1		287,1803,4413	AA,AG,GG		12.9651,28.6428,18.2762		563/585	46387344	2377,10629	2203	4300	6503	SO:0001819	synonymous_variant	26145	exon1			CTGCATGAAGGCC	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1689C>T	19.37:g.46387344G>A		Somatic	71	0	0	938	WXS	Illumina HiSeq	Phase_I	66	65	0.984848	NM_015649	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	CCDS12678.1																																																																																			G|0.836;A|0.164	0.164	strong		0.652	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		A	46387344	G	A	46387344	2	1	22	1	0	0	0	0	0	0	0	1	7829	1281	45	2		2	IRF2BP1	19	46387344	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11565	46387344	12741639	10017	15125										
IRF2BP1	26145	hgsc.bcm.edu	37	chr19	46387503	46387503	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacgaagtgggtgtcttcTagccgctccctgcacagggt	14	11	2	0	rs3745926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46387503T>C	ENST00000302165.3	-	1	1873	c.1530A>G	c.(1528-1530)ctA>ctG	p.L510L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	510	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGTGTCTTCTAGCCGCTCCC	0.701													C|||	1610	0.321486	0.5764	0.3127	5008	,	,		13341	0.3125		0.169	False		,,,				2504	0.1493				p.L510L		Atlas-SNP	.											.	IRF2BP1	23	.	0			c.A1530G						PASS	.	C		2131,2247		538,1055,596	18	18	18		1530	1.3	1	19	dbSNP_107	18	1602,6944		164,1274,2835	no	coding-synonymous	IRF2BP1	NM_015649.1		702,2329,3431	CC,CT,TT		18.7456,48.6752,28.8842		510/585	46387503	3733,9191	2189	4273	6462	SO:0001819	synonymous_variant	26145	exon1			GTCTTCTAGCCGC	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1530A>G	19.37:g.46387503T>C		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	44	44	1	NM_015649	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	CCDS12678.1																																																																																			T|0.681;C|0.319	0.319	strong		0.701	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		C	46387503	T	C	46387503	2	2	22	1	0	0	0	0	0	0	0	1	7829	1509	53	3		3	IRF2BP1	19	46387503	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	159	46387503	12741480	10018	15126										
CCDC8	83987	hgsc.bcm.edu	37	chr19	46915182	46915182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actatctgcagcctctccccCctgatcagcctcgatgtctg	7	17	4	1	rs11880658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46915182C>T	ENST00000307522.3	-	1	1659	c.886G>A	c.(886-888)Ggg>Agg	p.G296R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	296			G -> R (in dbSNP:rs11880658).		microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCTCTCCCCCCTGATCAGCC	0.642													C|||	215	0.0429313	0.1558	0.0101	5008	,	,		16994	0.0		0.002	False		,,,				2504	0.0				p.G296R		Atlas-SNP	.											.	CCDC8	56	.	0			c.G886A						PASS	.	C	ARG/GLY	511,3895	229.4+/-244.0	26,459,1718	85	85	85		886	-0.9	0.2	19	dbSNP_120	85	4,8596	2.2+/-6.3	0,4,4296	yes	missense	CCDC8	NM_032040.3	125	26,463,6014	TT,TC,CC		0.0465,11.5978,3.9597	benign	296/539	46915182	515,12491	2203	4300	6503	SO:0001583	missense	83987	exon1			CTCCCCCCTGATC	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.886G>A	19.37:g.46915182C>T	ENSP00000303158:p.Gly296Arg	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	106	53	0.5	NM_032040	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	80	0.03663003663003663	76	0.15447154471544716	4	0.011049723756906077	0	0.0	0	0.0	C	4.694	0.129001	0.08981	0.115978	4.65E-4	ENSG00000169515	ENST00000307522	T	0.10668	2.85	3.87	-0.89	0.10577	.	0.845492	0.09922	N	0.738356	T	0.00039	0.0001	N	0.02011	-0.69	0.29953	N	0.820099	B	0.06786	0.001	B	0.08055	0.003	T	0.48007	-0.9072	10	0.11485	T	0.65	-2.0588	8.1056	0.30883	0.0:0.5064:0.0:0.4936	rs11880658	296	Q9H0W5	CCDC8_HUMAN	R	296	ENSP00000303158:G296R	ENSP00000303158:G296R	G	-	1	0	CCDC8	51607022	0.000000	0.05858	0.194000	0.23346	0.165000	0.22458	-0.753000	0.04792	-0.122000	0.11766	0.655000	0.94253	GGG	C|0.962;T|0.038	0.038	strong		0.642	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		T	46915182	C	T	46915182	3	4	22	1	0	0	0	0	1	0	0	0	2853	623	22	2	734	2	CCDC8	19	46915182	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	527679	46915182	12213801	10019	15127										
PNMAL1	55228	hgsc.bcm.edu	37	chr19	46973315	46973315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcgcctcctgggctctcGgcttctgcccgggcatcctg	14	16	2	0	rs61628326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46973315G>A	ENST00000313683.10	-	2	1283	c.978C>T	c.(976-978)gcC>gcT	p.A326A	PNMAL1_ENST00000438932.2_Silent_p.A326A|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	326										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGGGCTCTCGGCTTCTGCCC	0.602													G|||	75	0.014976	0.0545	0.0043	5008	,	,		17043	0.0		0.0	False		,,,				2504	0.0				p.A326A		Atlas-SNP	.											.	PNMAL1	87	.	0			c.C978T						PASS	.	G	,	195,4211	118.0+/-155.7	8,179,2016	110	122	118		978,978	-7.3	0	19	dbSNP_129	118	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	PNMAL1	NM_001103149.1,NM_018215.3	,	8,183,6312	AA,AG,GG		0.0465,4.4258,1.5301	,	326/379,326/440	46973315	199,12807	2203	4300	6503	SO:0001819	synonymous_variant	55228	exon2			GCTCTCGGCTTCT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.978C>T	19.37:g.46973315G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	54	0.556701	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	CCDS33059.1																																																																																			G|0.982;A|0.018	0.018	strong		0.602	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		A	46973315	G	A	46973315	2	1	22	1	0	0	0	0	0	0	0	1	12157	1103	39	1		1	PNMAL1	19	46973315	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58133	46973315	12155668	10020	15128										
PNMAL1	55228	hgsc.bcm.edu	37	chr19	46973693	46973693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacctctgctgcaagcccCggttctttcttcaccttcct	5	19	4	0	rs73552938	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46973693C>T	ENST00000313683.10	-	2	905	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PNMAL1_ENST00000438932.2_Silent_p.P200P|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	200										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGCAAGCCCCGGTTCTTTCT	0.592													C|||	99	0.0197684	0.0696	0.0101	5008	,	,		18070	0.0		0.0	False		,,,				2504	0.0				p.P200P		Atlas-SNP	.											PNMAL1_ENST00000438932,lower_third,carcinoma,-1,2	PNMAL1	87	2	0			c.G600A						scavenged	.	C	,	250,4156	143.5+/-178.5	4,242,1957	58	60	59		600,600	-7.7	0	19	dbSNP_130	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PNMAL1	NM_001103149.1,NM_018215.3	,	4,244,6255	TT,TC,CC		0.0233,5.6741,1.9376	,	200/379,200/440	46973693	252,12754	2203	4300	6503	SO:0001819	synonymous_variant	55228	exon2			AAGCCCCGGTTCT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.600G>A	19.37:g.46973693C>T		Somatic	61	1	0.0163934		WXS	Illumina HiSeq	Phase_I	65	64	0.984615	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	CCDS33059.1	41	0.018772893772893772	38	0.07723577235772358	3	0.008287292817679558	0	0.0	0	0.0	C	4.609	0.113215	0.08831	0.056741	2.33E-4	ENSG00000182013	ENST00000417103	.	.	.	3.84	-7.67	0.01272	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.21386	N	0.99971	.	.	.	.	.	.	T	0.13845	-1.0494	5	0.46703	T	0.11	-21.5671	4.3527	0.11163	0.0894:0.1015:0.3706:0.4386	.	.	.	.	R	180	.	ENSP00000389114:G180R	G	-	1	0	PNMAL1	51665533	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-5.361000	0.00128	-3.560000	0.00141	-0.345000	0.07892	GGG	C|0.977;T|0.023	0.023	strong		0.592	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		T	46973693	C	T	46973693	2	4	22	1	0	0	0	0	0	0	0	1	12157	639	23	1		1	PNMAL1	19	46973693	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	378	46973693	12155290	10021	15129										
PNMAL1	55228	hgsc.bcm.edu	37	chr19	46973981	46973981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagattttttaaaaactcGgcatcctgggtagggtctct	9	8	2	1	rs4803960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:46973981G>A	ENST00000313683.10	-	2	617	c.312C>T	c.(310-312)gcC>gcT	p.A104A	PNMAL1_ENST00000438932.2_Silent_p.A104A|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	104										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ttaaaaactcggcatcctggg	0.562													A|||	1183	0.236222	0.3313	0.2089	5008	,	,		18155	0.1796		0.2485	False		,,,				2504	0.1728				p.A104A		Atlas-SNP	.											.	PNMAL1	87	.	0			c.C312T						PASS	.	A	,	1536,2870	670.9+/-402.4	268,1000,935	43	44	43		312,312	-6.2	0.3	19	dbSNP_111	43	2106,6494	713.3+/-405.9	283,1540,2477	no	coding-synonymous,coding-synonymous	PNMAL1	NM_001103149.1,NM_018215.3	,	551,2540,3412	AA,AG,GG		24.4884,34.8616,28.0025	,	104/379,104/440	46973981	3642,9364	2203	4300	6503	SO:0001819	synonymous_variant	55228	exon2			AAACTCGGCATCC	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.312C>T	19.37:g.46973981G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	CCDS33059.1																																																																																			G|0.732;A|0.268	0.268	strong		0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		A	46973981	G	A	46973981	2	1	22	1	0	0	0	0	0	0	0	1	12157	1103	39	1		1	PNMAL1	19	46973981	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	288	46973981	12155002	10022	15130										
CALM3	808	hgsc.bcm.edu	37	chr19	47112207	47112207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatgatcagggaggctgaCatcgatggagatggccaggt	17	6	1	4	rs35617141	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47112207C>T	ENST00000291295.9	+	5	589	c.390C>T	c.(388-390)gaC>gaT	p.D130D	CALM3_ENST00000599839.1_Silent_p.D94D|CALM3_ENST00000596362.1_Silent_p.D130D|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000594523.1_Silent_p.D94D|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000391918.2_Silent_p.D94D|CALM3_ENST00000598871.1_Silent_p.D94D|CALM3_ENST00000597743.1_Silent_p.D64D	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	130	EF-hand 4. {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)	GGGAGGCTGACATCGATGGAG	0.542													C|||	37	0.00738818	0.0265	0.0029	5008	,	,		21757	0.0		0.0	False		,,,				2504	0.0				p.D130D		Atlas-SNP	.											.	CALM3	9	.	0			c.C390T						PASS	.	C		98,4308	79.9+/-118.3	0,98,2105	93	71	79		390	4.8	1	19	dbSNP_126	79	0,8600		0,0,4300	no	coding-synonymous	CALM3	NM_005184.2		0,98,6405	TT,TC,CC		0.0,2.2242,0.7535		130/150	47112207	98,12908	2203	4300	6503	SO:0001819	synonymous_variant	808	exon5			GGCTGACATCGAT		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.390C>T	19.37:g.47112207C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	83	47	0.566265	NM_005184	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000291295.9	37	CCDS33061.1																																																																																			C|0.990;T|0.010	0.010	strong		0.542	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			T	47112207	C	T	47112207	2	4	22	1	0	0	0	0	0	0	0	1	2586	477	17	2		2	CALM3	19	47112207	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	138226	47112207	12016776	10023	15131										
PTGIR	5739	hgsc.bcm.edu	37	chr19	47124579	47124579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcttctgctttggacgaCgttcccacggcgctgccgct	12	15	1	0	rs2229130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47124579C>T	ENST00000291294.2	-	3	1252	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	PTGIR_ENST00000597185.1_Silent_p.T102T|PTGIR_ENST00000598865.1_Silent_p.T161T|PTGIR_ENST00000594275.1_Silent_p.T130T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	373					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CTTTGGACGACGTTCCCACGG	0.632													C|||	64	0.0127796	0.0446	0.0072	5008	,	,		16398	0.0		0.0	False		,,,				2504	0.0				p.T373T		Atlas-SNP	.											.	PTGIR	31	.	0			c.G1119A						PASS	.	C		207,4199	121.7+/-159.2	7,193,2003	44	47	46		1119	-9.5	0	19	dbSNP_98	46	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	PTGIR	NM_000960.3		7,196,6300	TT,TC,CC		0.0349,4.6981,1.6146		373/387	47124579	210,12796	2203	4300	6503	SO:0001819	synonymous_variant	5739	exon3			GGACGACGTTCCC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.1119G>A	19.37:g.47124579C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	124	62	0.5	NM_000960		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.984;T|0.016	0.016	strong		0.632	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			T	47124579	C	T	47124579	2	4	22	1	0	0	0	0	0	0	0	1	12751	523	19	1		1	PTGIR	19	47124579	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12372	47124579	12004404	10024	15132										
PTGIR	5739	hgsc.bcm.edu	37	chr19	47124742	47124742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgggaaaggggtgtctgcGagtctccgtgggcaggcccg	19	10	2	0	rs28590598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47124742G>C	ENST00000291294.2	-	3	1089	c.956C>G	c.(955-957)tCg>tGg	p.S319W	PTGIR_ENST00000597185.1_Missense_Mutation_p.S48W|PTGIR_ENST00000598865.1_Missense_Mutation_p.S107W|PTGIR_ENST00000594275.1_Missense_Mutation_p.S76W	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	319			S -> W (in dbSNP:rs28590598).		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GGGTGTCTGCGAGTCTCCGTG	0.647													G|||	136	0.0271565	0.0968	0.0101	5008	,	,		18475	0.0		0.001	False		,,,				2504	0.0				p.S319W		Atlas-SNP	.											.	PTGIR	31	.	0			c.C956G						PASS	.	G	TRP/SER	405,4001	184.3+/-211.7	22,361,1820	42	48	46		956	0.2	0	19	dbSNP_125	46	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTGIR	NM_000960.3	177	22,363,6118	CC,CG,GG		0.0233,9.192,3.1293	probably-damaging	319/387	47124742	407,12599	2203	4300	6503	SO:0001583	missense	5739	exon3			GTCTGCGAGTCTC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.956C>G	19.37:g.47124742G>C	ENSP00000291294:p.Ser319Trp	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	115	59	0.513043	NM_000960		Missense_Mutation	SNP	ENST00000291294.2	37	CCDS12686.1	52	0.023809523809523808	49	0.09959349593495935	3	0.008287292817679558	0	0.0	0	0.0	G	13.66	2.304672	0.40795	0.09192	2.33E-4	ENSG00000160013	ENST00000291294	T	0.41065	1.01	4.39	0.217	0.15264	.	0.792252	0.10334	N	0.687165	T	0.00998	0.0033	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.51866	0.682	T	0.03202	-1.1061	10	0.66056	D	0.02	-8.4268	6.0489	0.19775	0.5271:0.0:0.4729:0.0	rs28590598	319	P43119	PI2R_HUMAN	W	319	ENSP00000291294:S319W	ENSP00000291294:S319W	S	-	2	0	PTGIR	51816582	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.177000	0.16801	-0.057000	0.13199	-0.258000	0.10820	TCG	G|0.973;C|0.027	0.027	strong		0.647	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			C	47124742	G	C	47124742	3	2	22	1	0	0	0	0	1	0	0	0	12751	1059	37	4	208	4	PTGIR	19	47124742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	163	47124742	12004241	10025	15133										
GNG8	94235	hgsc.bcm.edu	37	chr19	47137459	47137459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttccgctgctgcctgcgaCacctgcgagcacccgggtgg	14	15	0	0	rs12974613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47137459C>T	ENST00000300873.4	-	2	89	c.87G>A	c.(85-87)gtG>gtA	p.V29V		NM_033258.1	NP_150283.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	29					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		CTGCCTGCGACACCTGCGAGC	0.682													c|||	1057	0.211062	0.2595	0.1988	5008	,	,		10534	0.0635		0.341	False		,,,				2504	0.1728				p.V29V	Colon(120;3580 4883)	Atlas-SNP	.											.	GNG8	2	.	0			c.G87A						PASS	.			1231,3171	400.6+/-331.6	166,899,1136	36	36	36		87	4.1	1	19	dbSNP_121	36	2963,5637	432.3+/-357.1	516,1931,1853	no	coding-synonymous	GNG8	NM_033258.1		682,2830,2989	TT,TC,CC		34.4535,27.9646,32.2566		29/71	47137459	4194,8808	2201	4300	6501	SO:0001819	synonymous_variant	94235	exon2			CTGCGACACCTGC	AF493875	CCDS12687.1	19q13.32	2008-07-10				ENSG00000167414			19664	protein-coding gene	gene with protein product						10819326	Standard	NM_033258		Approved		uc010xyd.2	Q9UK08		ENST00000300873.4:c.87G>A	19.37:g.47137459C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_033258	B2R746|D3DTW5	Silent	SNP	ENST00000300873.4	37	CCDS12687.1																																																																																			C|0.728;T|0.272	0.272	strong		0.682	GNG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466587.1			T	47137459	C	T	47137459	2	4	22	1	0	0	0	0	0	0	0	1	6532	465	17	2		2	GNG8	19	47137459	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12717	47137459	11991524	10026	15134										
STRN4	29888	hgsc.bcm.edu	37	chr19	47226434	47226434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggggtcccagatgcggaCggtgccatcagcagaacagg	16	11	1	2	rs10409124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47226434C>T	ENST00000263280.6	-	13	1751	c.1702G>A	c.(1702-1704)Gtc>Atc	p.V568I	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Missense_Mutation_p.V575I|STRN4_ENST00000539396.1_Missense_Mutation_p.V449I	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	568			V -> I (in dbSNP:rs10409124).			cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGATGCGGACGGTGCCATCA	0.716													C|||	412	0.0822684	0.264	0.0216	5008	,	,		16216	0.0347		0.006	False		,,,				2504	0.0072				p.V575I		Atlas-SNP	.											.	STRN4	33	.	0			c.G1723A						PASS	.	C	ILE/VAL,ILE/VAL	805,3499		65,675,1412	13	14	14		1702,1723	-5.2	0.6	19	dbSNP_119	14	12,8472		0,12,4230	yes	missense,missense	STRN4	NM_013403.2,NM_001039877.1	29,29	65,687,5642	TT,TC,CC		0.1414,18.7035,6.3888	benign,benign	568/754,575/761	47226434	817,11971	2152	4242	6394	SO:0001583	missense	29888	exon13			TGCGGACGGTGCC	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1702G>A	19.37:g.47226434C>T	ENSP00000263280:p.Val568Ile	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	160	61	0.38125	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	169	0.07738095238095238	143	0.29065040650406504	8	0.022099447513812154	13	0.022727272727272728	5	0.006596306068601583	C	10.15	1.272265	0.23221	0.187035	0.001414	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.57107	0.42;0.42;0.42	5.0	-5.24	0.02789	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.502804	0.19890	N	0.103752	T	0.00012	0.0000	L	0.35249	1.045	0.09310	P	0.9999999999991201	B;B	0.17667	0.023;0.002	B;B	0.23716	0.048;0.003	T	0.26538	-1.0100	9	0.07325	T	0.83	-19.3301	13.0542	0.58971	0.0:0.4098:0.0:0.5902	rs10409124;rs10409124	575;568	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	575;568;449	ENSP00000375777:V575I;ENSP00000263280:V568I;ENSP00000440901:V449I	ENSP00000263280:V568I	V	-	1	0	STRN4	51918274	0.016000	0.18221	0.576000	0.28549	0.411000	0.31082	0.299000	0.19138	-0.694000	0.05113	0.313000	0.20887	GTC	C|0.912;T|0.088	0.088	strong		0.716	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			T	47226434	C	T	47226434	3	4	22	1	0	0	0	0	1	0	0	0	15330	536	19	1	579	1	STRN4	19	47226434	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88975	47226434	11902549	10027	15135										
STRN4	29888	hgsc.bcm.edu	37	chr19	47226450	47226450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggacggtgccatcagcagaAcaggaggccaggcgctggga	17	11	1	1	rs28684509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47226450A>G	ENST00000263280.6	-	13	1735	c.1686T>C	c.(1684-1686)tgT>tgC	p.C562C	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Silent_p.C569C|STRN4_ENST00000539396.1_Silent_p.C443C	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	562						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CATCAGCAGAACAGGAGGCCA	0.716													G|||	438	0.0874601	0.2829	0.0231	5008	,	,		16355	0.0337		0.007	False		,,,				2504	0.0072				p.C569C		Atlas-SNP	.											.	STRN4	33	.	0			c.T1707C						PASS	.	G	,	891,3399		78,735,1332	16	16	16		1707,1686	3.9	1	19	dbSNP_125	16	8,8456		0,8,4224	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	78,743,5556	GG,GA,AA		0.0945,20.7692,7.0488	,	569/761,562/754	47226450	899,11855	2145	4232	6377	SO:0001819	synonymous_variant	29888	exon13			AGCAGAACAGGAG	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1686T>C	19.37:g.47226450A>G		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	157	61	0.388535	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	CCDS12690.1																																																																																			A|0.904;G|0.096	0.096	strong		0.716	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			G	47226450	A	G	47226450	2	3	22	1	0	0	0	0	0	0	0	1	15330	41	2	2		2	STRN4	19	47226450	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	47226450	11902533	10028	15136										
FKRP	79147	hgsc.bcm.edu	37	chr19	47258842	47258842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgtcgtgcctctgctgcCggcccccgtgtcaccgtcct	10	21	2	0	rs2287717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47258842C>T	ENST00000318584.5	+	4	432	c.135C>T	c.(133-135)gcC>gcT	p.A45A	FKRP_ENST00000391909.3_Silent_p.A45A|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	45					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCTCTGCTGCCGGCCCCCGTG	0.667													C|||	752	0.15016	0.1664	0.1311	5008	,	,		13153	0.1319		0.1431	False		,,,				2504	0.1677				p.A45A		Atlas-SNP	.											.	FKRP	16	.	0			c.C135T						PASS	.	C	,	625,3773		46,533,1620	22	21	21		135,135	-5	0	19	dbSNP_100	21	1218,7374		91,1036,3169	no	coding-synonymous,coding-synonymous	FKRP	NM_001039885.2,NM_024301.4	,	137,1569,4789	TT,TC,CC		14.176,14.211,14.1878	,	45/496,45/496	47258842	1843,11147	2199	4296	6495	SO:0001819	synonymous_variant	79147	exon4			TGCTGCCGGCCCC	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.135C>T	19.37:g.47258842C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	136	71	0.522059	NM_024301	A8K5G7	Silent	SNP	ENST00000318584.5	37	CCDS12691.1																																																																																			C|0.859;T|0.141	0.141	strong		0.667	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		T	47258842	C	T	47258842	2	4	22	1	0	0	0	0	0	0	0	1	5917	639	23	1		1	FKRP	19	47258842	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32392	47258842	11870141	10029	15137										
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47575170	47575170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagggccgtagggcatcaTtggagggccgccagggccca	16	13	1	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47575170T>C	ENST00000253048.5	-	13	2048	c.2011A>G	c.(2011-2013)Atg>Gtg	p.M671V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	671	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TAGGGCATCATTGGAGGGCCG	0.617																																					p.M671V		Atlas-SNP	.											.	ZC3H4	96	.	0			c.A2011G						PASS	.						33	39	37					19																	47575170		2040	4187	6227	SO:0001583	missense	23211	exon13			GCATCATTGGAGG	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2011A>G	19.37:g.47575170T>C	ENSP00000253048:p.Met671Val	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	117	63	0.538462	NM_015168	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728939	0.30684	.	.	ENSG00000130749	ENST00000253048	T	0.18174	2.23	5.35	5.35	0.76521	.	0.784041	0.11696	N	0.538401	T	0.13415	0.0325	L	0.34521	1.04	0.46499	D	0.999079	B	0.31485	0.325	B	0.21917	0.037	T	0.12167	-1.0558	10	0.15499	T	0.54	.	14.3108	0.66415	0.0:0.0:0.0:1.0	.	671	Q9UPT8	ZC3H4_HUMAN	V	671	ENSP00000253048:M671V	ENSP00000253048:M671V	M	-	1	0	ZC3H4	52267010	1.000000	0.71417	0.982000	0.44146	0.507000	0.33981	6.886000	0.75611	2.028000	0.59812	0.523000	0.50628	ATG	.	.	none		0.617	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			C	47575170	T	C	47575170	3	2	22	1	0	0	0	0	1	0	0	0	17567	1493	52	2	1912	2	ZC3H4	19	47575170	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	316328	47575170	11553813	10030	15138										
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47575291	47575291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcatgtcggggtgcatgtcAggatgcattggaccgcccat	14	10	1	0	rs144210335|rs79459609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47575291A>G	ENST00000253048.5	-	13	1927	c.1890T>C	c.(1888-1890)ccT>ccC	p.P630P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	630	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ggtgcatgtcaggatgcatTG	0.647													A|||	130	0.0259585	0.0908	0.0115	5008	,	,		17612	0.0		0.002	False		,,,				2504	0.0				p.P630P		Atlas-SNP	.											.	ZC3H4	96	.	0			c.T1890C						PASS	.	A		211,3961		8,195,1883	29	34	32		1890	-9	0.7	19	dbSNP_131	32	18,8402		0,18,4192	no	coding-synonymous	ZC3H4	NM_015168.1		8,213,6075	GG,GA,AA		0.2138,5.0575,1.8186		630/1304	47575291	229,12363	2086	4210	6296	SO:0001819	synonymous_variant	23211	exon13			CATGTCAGGATGC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1890T>C	19.37:g.47575291A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	97	50	0.515464	NM_015168	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																			A|0.983;G|0.017	0.017	strong		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			G	47575291	A	G	47575291	2	3	22	1	0	0	0	0	0	0	0	1	17567	175	7	3		3	ZC3H4	19	47575291	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	121	47575291	11553692	10031	15139										
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47584869	47584869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtgtggtacagcttacaCgggaaatcacgttcatggca	13	8	2	0	rs73943616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47584869C>T	ENST00000253048.5	-	11	1378	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	447							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACAGCTTACACGGGAAATCAC	0.522													C|||	133	0.0265575	0.093	0.0115	5008	,	,		20932	0.0		0.002	False		,,,				2504	0.0				p.P447P		Atlas-SNP	.											.	ZC3H4	96	.	0			c.G1341A						PASS	.	C		287,3833		14,259,1787	120	121	121		1341	-11.4	0.2	19	dbSNP_130	121	30,8360		0,30,4165	no	coding-synonymous	ZC3H4	NM_015168.1		14,289,5952	TT,TC,CC		0.3576,6.966,2.534		447/1304	47584869	317,12193	2060	4195	6255	SO:0001819	synonymous_variant	23211	exon11			CTTACACGGGAAA	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1341G>A	19.37:g.47584869C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	144	84	0.583333	NM_015168	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																			C|0.986;T|0.014	0.014	strong		0.522	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			T	47584869	C	T	47584869	2	4	22	1	0	0	0	0	0	0	0	1	17567	523	19	1		1	ZC3H4	19	47584869	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9578	47584869	11544114	10032	15140										
GPR77	27202	hgsc.bcm.edu	37	chr19	47844653	47844653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccagcaccgagaatgcGgtgactgccatccggtttct	10	14	1	2	rs36046934	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47844653G>A	ENST00000595464.1	+	2	815	c.597G>A	c.(595-597)gcG>gcA	p.A199A	C5AR2_ENST00000257267.2_Silent_p.A199A|C5AR2_ENST00000600626.1_Silent_p.A199A	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	199					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCGAGAATGCGGTGACTGCCA	0.692													A|||	86	0.0171725	0.0197	0.0202	5008	,	,		12978	0.0		0.0258	False		,,,				2504	0.0204				p.A199A		Atlas-SNP	.											GPR77,NS,carcinoma,+1,1	.	.	1	0			c.G597A						PASS	.	A		102,4304	816.1+/-416.2	1,100,2102	62	69	67		597	-4.5	0	19	dbSNP_126	67	153,8447	812.3+/-407.1	2,149,4149	no	coding-synonymous	GPR77	NM_018485.1		3,249,6251	AA,AG,GG		1.7791,2.315,1.9606		199/338	47844653	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	27202	exon2			GAATGCGGTGACT	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.597G>A	19.37:g.47844653G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	160	72	0.45	NM_001271750	B2RA09	Silent	SNP	ENST00000595464.1	37	CCDS12699.1																																																																																			G|0.979;A|0.021	0.021	strong		0.692	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		A	47844653	G	A	47844653	2	1	22	1	0	0	0	0	0	0	0	1	6709	1103	39	1		1	GPR77	19	47844653	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	259784	47844653	11284330	10033	15141										
GPR77	27202	hgsc.bcm.edu	37	chr19	47844899	47844899	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatcgtgggccttgccctCgctcacagctgcctcaatcc	8	18	3	0	rs34085015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:47844899C>T	ENST00000595464.1	+	2	1061	c.843C>T	c.(841-843)ctC>ctT	p.L281L	C5AR2_ENST00000257267.2_Silent_p.L281L|C5AR2_ENST00000600626.1_Silent_p.L281L	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	281					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GCCTTGCCCTCGCTCACAGCT	0.667													C|||	27	0.00539137	0.0174	0.0043	5008	,	,		16697	0.0		0.001	False		,,,				2504	0.0				p.L281L		Atlas-SNP	.											.	.	.	.	0			c.C843T						PASS	.	C		92,4314	75.2+/-113.4	1,90,2112	59	59	59		843	-7.9	0	19	dbSNP_126	59	0,8600		0,0,4300	no	coding-synonymous	GPR77	NM_018485.1		1,90,6412	TT,TC,CC		0.0,2.0881,0.7074		281/338	47844899	92,12914	2203	4300	6503	SO:0001819	synonymous_variant	27202	exon2			TGCCCTCGCTCAC	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.843C>T	19.37:g.47844899C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	86	48	0.55814	NM_001271750	B2RA09	Silent	SNP	ENST00000595464.1	37	CCDS12699.1																																																																																			C|0.992;T|0.008	0.008	strong		0.667	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		T	47844899	C	T	47844899	2	4	22	1	0	0	0	0	0	0	0	1	6709	871	31	1		1	GPR77	19	47844899	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	246	47844899	11284084	10034	15142										
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48182859	48182859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcggggcaggcccgacGggcgctggaggggcagcggc	23	11	0	0	rs60219834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48182859G>A	ENST00000396720.3	+	6	626	c.432G>A	c.(430-432)acG>acA	p.T144T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	144										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CAGGCCCGACGGGCGCTGGAG	0.741													G|||	283	0.0565096	0.1997	0.0245	5008	,	,		10296	0.0		0.002	False		,,,				2504	0.0				p.T144T		Atlas-SNP	.											.	GLTSCR1	79	.	0			c.G432A						PASS	.						8	10	9					19																	48182859		677	1571	2248	SO:0001819	synonymous_variant	29998	exon6			CCCGACGGGCGCT	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.432G>A	19.37:g.48182859G>A		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	12	8	0.666667	NM_015711	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			G|0.943;A|0.057	0.057	strong		0.741	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48182859	G	A	48182859	2	1	22	1	0	0	0	0	0	0	0	1	6474	1103	39	1		1	GLTSCR1	19	48182859	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	337960	48182859	10946124	10035	15143										
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305626	48305626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgggtttgggcctgagatTgggcctgagattgggcctgg	18	8	0	2	rs62130757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48305626T>C	ENST00000322175.3	-	2	797	c.642A>G	c.(640-642)ccA>ccG	p.P214P	TPRX1_ENST00000535759.1_Silent_p.P311P|TPRX1_ENST00000543508.1_Silent_p.P204P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	214	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcctgagattgggcctgaga	0.672													T|||	691	0.137979	0.1808	0.0908	5008	,	,		12921	0.1984		0.0547	False		,,,				2504	0.137				p.P214P	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-SNP	.											.	TPRX1	46	.	0			c.A642G						PASS	.	T		443,3269		25,393,1438	12	10	11		642	0.4	0	19	dbSNP_129	11	352,6916		8,336,3290	no	coding-synonymous	TPRX1	NM_198479.2		33,729,4728	CC,CT,TT		4.8431,11.9343,7.2404		214/412	48305626	795,10185	1856	3634	5490	SO:0001819	synonymous_variant	284355	exon2			TGAGATTGGGCCT		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.642A>G	19.37:g.48305626T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_198479	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			T|0.887;C|0.113	0.113	strong		0.672	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		C	48305626	T	C	48305626	2	2	22	1	0	0	0	0	0	0	0	1	16419	1799	63	2		2	TPRX1	19	48305626	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	122767	48305626	10823357	10036	15144			34	63	36118416	4	4	106	N	T_G	8.293952e-06
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305651	48305651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagattgggcctgggatcGggcctgggatcgggactgag	19	8	0	2	rs62130758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48305651G>A	ENST00000322175.3	-	2	772	c.617C>T	c.(616-618)cCg>cTg	p.P206L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P196L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P303L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	206	Gly-rich.			P -> L (in Ref. 1; BAC05130). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggat	0.677													G|||	1483	0.296126	0.4561	0.2104	5008	,	,		13150	0.2123		0.2177	False		,,,				2504	0.3078				p.P206L	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-SNP	.											.	TPRX1	46	.	0			c.C617T						PASS	.	G	LEU/PRO	1202,2398		185,832,783	13	10	11		617	-0.8	0	19	dbSNP_129	11	1235,5609		116,1003,2303	no	missense	TPRX1	NM_198479.2	98	301,1835,3086	AA,AG,GG		18.045,33.3889,23.334	possibly-damaging	206/412	48305651	2437,8007	1800	3422	5222	SO:0001583	missense	284355	exon2			GGGATCGGGCCTG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.617C>T	19.37:g.48305651G>A	ENSP00000323455:p.Pro206Leu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_198479	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	513	0.2348901098901099	178	0.3617886178861789	78	0.2154696132596685	106	0.1853146853146853	151	0.19920844327176782	-	5.425	0.263536	0.10294	0.333889	0.18045	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.66099	-0.19;-0.19;-0.19	0.401	-0.802	0.10889	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.40197	0.706	B	0.22753	0.041	T	0.30966	-0.9960	7	0.72032	D	0.01	.	.	.	.	rs62130758	206	Q8N7U7	TPRX1_HUMAN	L	206;303;196	ENSP00000323455:P206L;ENSP00000438832:P303L;ENSP00000438712:P196L	ENSP00000323455:P206L	P	-	2	0	TPRX1	52997463	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.060000	0.11712	-0.483000	0.06772	-0.485000	0.04761	CCG	G|0.764;A|0.236	0.236	strong		0.677	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305651	G	A	48305651	3	1	22	1	0	0	0	0	1	0	0	0	16419	1116	39	1	622	1	TPRX1	19	48305651	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25	48305651	10823332	10037	15145			34	63	36118416	4	4	106	N	T_G	8.293952e-06
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305674	48305674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgggatcgggactgagatTgggcctgggatcgggcctga	18	9	0	2	rs78381908	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48305674T>C	ENST00000322175.3	-	2	749	c.594A>G	c.(592-594)ccA>ccG	p.P198P	TPRX1_ENST00000535759.1_Silent_p.P295P|TPRX1_ENST00000543508.1_Silent_p.P188P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	198	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggactgagattgggcctggga	0.657													T|||	683	0.136382	0.174	0.0893	5008	,	,		12887	0.1994		0.0547	False		,,,				2504	0.138				p.P198P	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-SNP	.											.	TPRX1	46	.	0			c.A594G						PASS	.	T		400,3106		25,350,1378	14	11	12		594	-0.8	0	19	dbSNP_131	12	308,6188		8,292,2948	no	coding-synonymous	TPRX1	NM_198479.2		33,642,4326	CC,CT,TT		4.7414,11.409,7.0786		198/412	48305674	708,9294	1753	3248	5001	SO:0001819	synonymous_variant	284355	exon2			TGAGATTGGGCCT		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.594A>G	19.37:g.48305674T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_198479	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			T|0.885;C|0.115	0.115	strong		0.657	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		C	48305674	T	C	48305674	2	2	22	1	0	0	0	0	0	0	0	1	16419	1799	63	2		2	TPRX1	19	48305674	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23	48305674	10823309	10038	15146			34	63	36118416	4	4	106	N	T_G	8.293952e-06
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305731	48305731	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcctgggtttgggcctggGatcgggcctgggtttgggcc	21	9	0	0	rs79291962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48305731G>T	ENST00000322175.3	-	2	692	c.537C>A	c.(535-537)atC>atA	p.I179I	TPRX1_ENST00000543508.1_Silent_p.I169I|TPRX1_ENST00000535759.1_Silent_p.I276I	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	179	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ttgggcctgggatcgggcctg	0.662													G|||	40	0.00798722	0.0295	0.0014	5008	,	,		13670	0.0		0.0	False		,,,				2504	0.0				p.I179I	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-SNP	.											.	TPRX1	46	.	0			c.C537A						PASS	.	G		80,3372		0,80,1646	15	13	14		537	0.3	0.1	19	dbSNP_131	14	1,6371		0,1,3185	no	coding-synonymous	TPRX1	NM_198479.2		0,81,4831	TT,TG,GG		0.0157,2.3175,0.8245		179/412	48305731	81,9743	1726	3186	4912	SO:0001819	synonymous_variant	284355	exon2			GCCTGGGATCGGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.537C>A	19.37:g.48305731G>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	129	60	0.465116	NM_198479	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			G|0.993;T|0.007	0.007	strong		0.662	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		T	48305731	G	T	48305731	2	4	22	1	0	0	0	0	0	0	0	1	16419	1164	41	4		4	TPRX1	19	48305731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	57	48305731	10823252	10039	15147			34	63	36118416	4	4	106	N	T_G	8.293952e-06
ELSPBP1	64100	hgsc.bcm.edu	37	chr19	48517538	48517538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccagagccgtgtacaacGgccagtggaagtactgccag	12	13	0	1	rs62129078|rs369872763	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48517538G>A	ENST00000339841.2	+	3	359	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	61	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGTGTACAACGGCCAGTGGAA	0.488													g|||	750	0.14976	0.1831	0.1225	5008	,	,		16645	0.0724		0.1531	False		,,,				2504	0.2004				p.G61S		Atlas-SNP	.											.	ELSPBP1	29	.	0			c.G181A						PASS	.	G	SER/GLY	794,3612	319.3+/-296.1	74,646,1483	156	135	142		181	1.1	0	19	dbSNP_129	142	1284,7316	254.7+/-279.9	87,1110,3103	yes	missense	ELSPBP1	NM_022142.4	56	161,1756,4586	AA,AG,GG		14.9302,18.0209,15.9772	possibly-damaging	61/224	48517538	2078,10928	2203	4300	6503	SO:0001583	missense	64100	exon3			TACAACGGCCAGT	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.181G>A	19.37:g.48517538G>A	ENSP00000340660:p.Gly61Ser	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	151	151	1	NM_022142	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	315	0.14423076923076922	98	0.1991869918699187	58	0.16022099447513813	47	0.08216783216783216	112	0.14775725593667546	G	11.26	1.587673	0.28268	0.180209	0.149302	ENSG00000169393	ENST00000339841	T	0.52983	0.64	3.27	1.14	0.20703	Fibronectin, type II, collagen-binding (4);Kringle-like fold (2);	0.734607	0.11192	N	0.589780	T	0.00039	0.0001	M	0.71920	2.185	0.80722	P	0.0	P	0.37864	0.61	B	0.39617	0.305	T	0.07849	-1.0751	9	0.18276	T	0.48	.	5.4873	0.16757	0.2546:0.0:0.7454:0.0	rs62129078	61	Q96BH3	ESPB1_HUMAN	S	61	ENSP00000340660:G61S	ENSP00000340660:G61S	G	+	1	0	ELSPBP1	53209350	0.005000	0.15991	0.001000	0.08648	0.009000	0.06853	0.606000	0.24194	0.397000	0.25310	0.544000	0.68410	GGC	G|0.845;A|0.155	0.155	strong		0.488	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			A	48517538	G	A	48517538	3	1	22	1	0	0	0	0	1	0	0	0	5083	1116	39	1	187	1	ELSPBP1	19	48517538	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	211807	48517538	10611445	10040	15148										
ELSPBP1	64100	hgsc.bcm.edu	37	chr19	48519158	48519158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttcctaacagattacccaCgctgtatcttccctttcatc	4	14	2	1	rs34129198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48519158C>T	ENST00000339841.2	+	4	395	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGATTACCCACGCTGTATCTT	0.463													c|||	810	0.161741	0.2103	0.1254	5008	,	,		20377	0.0724		0.1531	False		,,,				2504	0.2229				p.R73C		Atlas-SNP	.											.	ELSPBP1	29	.	0			c.C217T						PASS	.	C	CYS/ARG	884,3522	343.3+/-307.6	86,712,1405	106	83	91		217	2.2	0.9	19	dbSNP_126	91	1294,7306	256.1+/-280.7	91,1112,3097	yes	missense	ELSPBP1	NM_022142.4	180	177,1824,4502	TT,TC,CC		15.0465,20.0635,16.7461	probably-damaging	73/224	48519158	2178,10828	2203	4300	6503	SO:0001583	missense	64100	exon4			TACCCACGCTGTA	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.217C>T	19.37:g.48519158C>T	ENSP00000340660:p.Arg73Cys	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_022142	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	325	0.1488095238095238	107	0.21747967479674796	59	0.16298342541436464	47	0.08216783216783216	112	0.14775725593667546	C	9.088	1.000976	0.19121	0.200635	0.150465	ENSG00000169393	ENST00000339841	T	0.10005	2.92	3.4	2.21	0.28008	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.00012	0.0000	L	0.35414	1.06	0.40606	P	0.018378000000000005	P	0.35226	0.491	B	0.27608	0.081	T	0.45425	-0.9262	9	0.38643	T	0.18	.	7.0708	0.25177	0.2693:0.7306:0.0:0.0	rs34129198	73	Q96BH3	ESPB1_HUMAN	C	73	ENSP00000340660:R73C	ENSP00000340660:R73C	R	+	1	0	ELSPBP1	53210970	0.868000	0.29978	0.938000	0.37757	0.306000	0.27790	1.077000	0.30741	1.817000	0.53016	0.543000	0.68304	CGC	C|0.837;T|0.163	0.163	strong		0.463	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			T	48519158	C	T	48519158	3	4	22	1	0	0	0	0	1	0	0	0	5083	536	19	1	227	1	ELSPBP1	19	48519158	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1620	48519158	10609825	10041	15149										
ELSPBP1	64100	hgsc.bcm.edu	37	chr19	48519244	48519244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaggcagtctgtggtgctcAgtcacctctgtcttcgatga	11	10	5	1	rs35792818	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48519244A>G	ENST00000339841.2	+	4	481	c.303A>G	c.(301-303)tcA>tcG	p.S101S	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	101	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TGTGGTGCTCAGTCACCTCTG	0.507													g|||	810	0.161741	0.2103	0.1254	5008	,	,		21204	0.0724		0.1531	False		,,,				2504	0.2229				p.S101S		Atlas-SNP	.											ELSPBP1,NS,NS,+1,1	ELSPBP1	29	1	0			c.A303G						PASS	.	G		885,3521	742.5+/-411.4	86,713,1404	136	115	122		303	-7.1	0.3	19	dbSNP_126	122	1294,7306	759.1+/-407.5	91,1112,3097	no	coding-synonymous	ELSPBP1	NM_022142.4		177,1825,4501	GG,GA,AA		15.0465,20.0862,16.7538		101/224	48519244	2179,10827	2203	4300	6503	SO:0001819	synonymous_variant	64100	exon4			GTGCTCAGTCACC	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.303A>G	19.37:g.48519244A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_022142	Q96RT0|Q9H4C8	Silent	SNP	ENST00000339841.2	37	CCDS12708.1																																																																																			A|0.837;G|0.163	0.163	strong		0.507	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			G	48519244	A	G	48519244	2	3	22	1	0	0	0	0	0	0	0	1	5083	175	7	3		3	ELSPBP1	19	48519244	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	86	48519244	10609739	10042	15150										
CABP5	56344	hgsc.bcm.edu	37	chr19	48543923	48543923	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgtgggcatgtaacccatCgtcctcatgagattccccag	9	14	1	1	rs12982629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48543923C>A	ENST00000293255.2	-	3	307	c.177G>T	c.(175-177)acG>acT	p.T59T		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	59	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TGTAACCCATCGTCCTCATGA	0.522													c|||	710	0.141773	0.0825	0.2248	5008	,	,		19329	0.0099		0.2724	False		,,,				2504	0.1646				p.T59T		Atlas-SNP	.											.	CABP5	28	.	0			c.G177T						PASS	.	C		548,3858	247.5+/-255.7	31,486,1686	123	101	108		177	-8.8	0.2	19	dbSNP_121	108	2440,6160	404.0+/-348.0	353,1734,2213	no	coding-synonymous	CABP5	NM_019855.4		384,2220,3899	AA,AC,CC		28.3721,12.4376,22.974		59/174	48543923	2988,10018	2203	4300	6503	SO:0001819	synonymous_variant	56344	exon3			ACCCATCGTCCTC	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.177G>T	19.37:g.48543923C>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_019855	A0AUY4	Silent	SNP	ENST00000293255.2	37	CCDS12709.1																																																																																			C|0.798;A|0.202	0.202	strong		0.522	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		A	48543923	C	A	48543923	2	1	22	1	0	0	0	0	0	0	0	1	2534	871	31	4		4	CABP5	19	48543923	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24679	48543923	10585060	10043	15151										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48558159	48558159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggcatctatgttgaacaGgggaaaatgcatcaccactg	10	9	2	1	rs2307280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48558159G>A	ENST00000599921.1	-	15	1762	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	PLA2G4C_ENST00000413144.2_Silent_p.L469L|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Silent_p.L479L|PLA2G4C_ENST00000354276.3_Silent_p.L469L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	469	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ATGTTGAACAGGGGAAAATGC	0.517													g|||	408	0.0814696	0.2965	0.0231	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0				p.L479L		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.C1435T						PASS	.	G	,,	996,3410	372.2+/-320.3	116,764,1323	110	102	105		1435,1405,1405	1.9	0.9	19	dbSNP_100	105	12,8588	7.7+/-29.5	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	,,	116,776,5611	AA,AG,GG		0.1395,22.6055,7.7503	,,	479/552,469/528,469/542	48558159	1008,11998	2203	4300	6503	SO:0001819	synonymous_variant	8605	exon15			TGAACAGGGGAAA	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1405C>T	19.37:g.48558159G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	130	66	0.507692	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																			G|0.926;A|0.074	0.074	strong		0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			A	48558159	G	A	48558159	2	1	22	1	0	0	0	0	0	0	0	1	12003	991	35	2		2	PLA2G4C	19	48558159	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14236	48558159	10570824	10044	15152										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48598823	48598823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaaaggcccccagtgcagAgaagccagcgtggtgagggg	16	10	0	2	rs156631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48598823A>G	ENST00000599921.1	-	7	964	c.607T>C	c.(607-609)Tct>Cct	p.S203P	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.S203P|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.S213P|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.S203P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	203	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		S -> P (in dbSNP:rs156631). {ECO:0000269|PubMed:10085124, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCCAGTGCAGAGAAGCCAGCG	0.527													G|||	3151	0.629193	0.7784	0.5014	5008	,	,		19060	0.8681		0.3797	False		,,,				2504	0.5286				p.S213P		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.T637C						PASS	.	G	PRO/SER,PRO/SER,PRO/SER	3143,1263	432.6+/-343.3	1133,877,193	117	134	128		637,607,607	2.2	0.8	19	dbSNP_79	128	3215,5385	652.3+/-400.9	591,2033,1676	yes	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	74,74,74	1724,2910,1869	GG,GA,AA		37.3837,28.6655,48.8851	benign,benign,benign	213/552,203/528,203/542	48598823	6358,6648	2203	4300	6503	SO:0001583	missense	8605	exon7			GTGCAGAGAAGCC	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.607T>C	19.37:g.48598823A>G	ENSP00000469473:p.Ser203Pro	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	103	57	0.553398	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	1350	0.6181318681318682	380	0.7723577235772358	184	0.5082872928176796	503	0.8793706293706294	283	0.3733509234828496	G	0.020	-1.436880	0.01098	0.713345	0.373837	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04119	3.7;3.7	3.31	2.22	0.28083	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.167772	0.39985	N	0.001211	T	0.00012	0.0000	N	0.00327	-1.64	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.11767	-1.0574	9	0.13470	T	0.59	-6.9264	6.3932	0.21599	0.2736:0.0:0.7264:0.0	rs156631;rs3745739;rs17358791;rs56790404;rs156631	203	Q9UP65	PA24C_HUMAN	P	203	ENSP00000346228:S203P;ENSP00000400036:S203P	ENSP00000346228:S203P	S	-	1	0	PLA2G4C	53290635	0.974000	0.33945	0.765000	0.31456	0.483000	0.33249	0.859000	0.27858	0.506000	0.28125	-0.971000	0.02607	TCT	T|0.003;G|0.559	0.559	strong		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			G	48598823	A	G	48598823	3	3	22	1	0	0	0	0	1	0	0	0	12003	304	11	3	1066	3	PLA2G4C	19	48598823	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40664	48598823	10530160	10045	15153										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48601454	48601454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtcaatggctgcaaatatTgggtagggtagtgtcccttc	12	7	1	0	rs251684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48601454T>C	ENST00000599921.1	-	6	867	c.510A>G	c.(508-510)ccA>ccG	p.P170P	PLA2G4C_ENST00000413144.2_Silent_p.P170P|PLA2G4C_ENST00000599111.1_Silent_p.P180P|PLA2G4C_ENST00000354276.3_Silent_p.P170P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	170	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTGCAAATATTGGGTAGGGTA	0.517													C|||	3325	0.663938	0.7179	0.6441	5008	,	,		20639	0.7411		0.6083	False		,,,				2504	0.5828				p.P180P		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.A540G						PASS	.	C	,,	3063,1343	450.4+/-349.3	1063,937,203	150	123	132		540,510,510	-5.8	0.9	19	dbSNP_79	132	5410,3190	483.4+/-371.1	1704,2002,594	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	,,	2767,2939,797	CC,CT,TT		37.093,30.4812,34.8531	,,	180/552,170/528,170/542	48601454	8473,4533	2203	4300	6503	SO:0001819	synonymous_variant	8605	exon6			AAATATTGGGTAG	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.510A>G	19.37:g.48601454T>C		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	181	85	0.469613	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																			T|0.337;C|0.663	0.663	strong		0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			C	48601454	T	C	48601454	2	2	22	1	0	0	0	0	0	0	0	1	12003	1799	63	2		2	PLA2G4C	19	48601454	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2631	48601454	10527529	10046	15154										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48602933	48602933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggaatgacttacttctcTggtttgcttagagataacca	9	8	1	2	rs2307282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48602933T>C	ENST00000599921.1	-	5	799	c.442A>G	c.(442-444)Aga>Gga	p.R148G	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R158G|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R148G|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.R148G			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	148	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		R -> G (in dbSNP:rs2307282). {ECO:0000269|Ref.3}.		arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTTACTTCTCTGGTTTGCTTA	0.527													T|||	221	0.0441294	0.1566	0.013	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.0051				p.R158G		Atlas-SNP	.											PLA2G4C,middle_lobe,carcinoma,+1,1	PLA2G4C	76	1	0			c.A472G						PASS	.	T	GLY/ARG,GLY/ARG,GLY/ARG	504,3902	234.6+/-247.4	33,438,1732	102	98	99		472,442,442	0.8	0.4	19	dbSNP_100	99	13,8587	8.4+/-32.0	0,13,4287	yes	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	125,125,125	33,451,6019	CC,CT,TT		0.1512,11.4389,3.9751	probably-damaging,probably-damaging,probably-damaging	158/552,148/528,148/542	48602933	517,12489	2203	4300	6503	SO:0001583	missense	8605	exon5			CTTCTCTGGTTTG	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.442A>G	19.37:g.48602933T>C	ENSP00000469473:p.Arg148Gly	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	73	0.033424908424908424	67	0.13617886178861788	6	0.016574585635359115	0	0.0	0	0.0	T	16.81	3.226912	0.58668	0.114389	0.001512	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.03920	3.76;3.76	3.17	0.779	0.18550	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.158082	0.39985	U	0.001218	T	0.00039	0.0001	N	0.05487	-0.04	0.26973	N	0.965549	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.63192	0.912;0.912;0.912	T	0.44143	-0.9347	10	0.15499	T	0.54	-15.3518	7.5148	0.27593	0.0:0.0:0.4963:0.5037	rs2307282;rs52815563;rs56435935;rs2307282	158;148;148	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	G	148	ENSP00000346228:R148G;ENSP00000400036:R148G	ENSP00000346228:R148G	R	-	1	2	PLA2G4C	53294745	0.937000	0.31787	0.417000	0.26559	0.668000	0.39293	0.459000	0.21908	-0.144000	0.11314	0.338000	0.21704	AGA	T|0.956;C|0.044	0.044	strong		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			C	48602933	T	C	48602933	3	2	22	1	0	0	0	0	1	0	0	0	12003	1588	55	3	1239	3	PLA2G4C	19	48602933	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1479	48602933	10526050	10047	15155										
CCDC114	93233	hgsc.bcm.edu	37	chr19	48806977	48806977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggacagtttattcagggcGtcctcgtagcaaagcaccag	12	10	1	0	rs2242463	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48806977G>A	ENST00000315396.7	-	8	1489	c.807C>T	c.(805-807)gaC>gaT	p.D269D		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	269					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TATTCAGGGCGTCCTCGTAGC	0.632													G|||	768	0.153355	0.1354	0.0965	5008	,	,		17099	0.126		0.1998	False		,,,				2504	0.1984				p.D269D		Atlas-SNP	.											.	CCDC114	100	.	0			c.C807T						PASS	.	G		727,3679	301.0+/-286.6	63,601,1539	93	90	91		807	-6	0.5	19	dbSNP_98	91	1599,7001	298.6+/-304.0	164,1271,2865	no	coding-synonymous	CCDC114	NM_144577.3		227,1872,4404	AA,AG,GG		18.593,16.5002,17.8841		269/671	48806977	2326,10680	2203	4300	6503	SO:0001819	synonymous_variant	93233	exon8			CAGGGCGTCCTCG	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.807C>T	19.37:g.48806977G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	160	158	0.9875	NM_144577	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																			G|0.817;A|0.183	0.183	strong		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		A	48806977	G	A	48806977	2	1	22	1	0	0	0	0	0	0	0	1	2751	1136	40	1		1	CCDC114	19	48806977	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	204044	48806977	10322006	10048	15156										
CCDC114	93233	hgsc.bcm.edu	37	chr19	48807367	48807367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttctccgcgcgctcccgCagcaagcccatcttggcctt	8	18	3	0	rs28582401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953				p.L195L		Atlas-SNP	.											.	CCDC114	100	.	0			c.G585T						PASS	.	C		744,3662	296.7+/-284.4	66,612,1525	43	43	43		585	-0.5	1	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233	exon7			CTCCCGCAGCAAG	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_144577	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																			C|0.817;A|0.183	0.183	strong		0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		A	48807367	C	A	48807367	2	1	22	1	0	0	0	0	0	0	0	1	2751	697	25	4		4	CCDC114	19	48807367	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	390	48807367	10321616	10049	15157										
CYTH2	9266	hgsc.bcm.edu	37	chr19	48977189	48977189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatggagctttcgcctaccCggagaggcccagaaaattga	11	11	0	3	rs28582663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48977189C>T	ENST00000452733.2	+	6	938	c.462C>T	c.(460-462)ccC>ccT	p.P154P	CYTH2_ENST00000427476.1_Silent_p.P154P			Q99418	CYH2_HUMAN	cytohesin 2	154	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTCGCCTACCCGGAGAGGCCC	0.607													C|||	61	0.0121805	0.0431	0.0043	5008	,	,		16544	0.0		0.0	False		,,,				2504	0.001				p.P154P		Atlas-SNP	.											.	CYTH2	33	.	0			c.C462T						PASS	.	C	,	193,4213	123.3+/-160.7	1,191,2011	48	47	47		462,462	-7.4	0.9	19	dbSNP_125	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYTH2	NM_004228.6,NM_017457.5	,	1,192,6310	TT,TC,CC		0.0116,4.3804,1.4916	,	154/400,154/401	48977189	194,12812	2203	4300	6503	SO:0001819	synonymous_variant	9266	exon6			CCTACCCGGAGAG	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.462C>T	19.37:g.48977189C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_017457	A8K8P0|Q8IXY9|Q92958	Silent	SNP	ENST00000452733.2	37	CCDS12722.1																																																																																			C|0.982;T|0.018	0.018	strong		0.607	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		T	48977189	C	T	48977189	2	4	22	1	0	0	0	0	0	0	0	1	4204	639	23	1		1	CYTH2	19	48977189	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	169822	48977189	10151794	10050	15158										
CYTH2	9266	hgsc.bcm.edu	37	chr19	48977479	48977479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgccgtcatcatgctcaaCaccagtctccacaatcccaa	4	17	4	0	rs61748773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:48977479C>T	ENST00000452733.2	+	7	1064	c.588C>T	c.(586-588)aaC>aaT	p.N196N	CYTH2_ENST00000427476.1_Silent_p.N196N			Q99418	CYH2_HUMAN	cytohesin 2	196	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCATGCTCAACACCAGTCTCC	0.632													C|||	375	0.0748802	0.2012	0.0389	5008	,	,		15982	0.0546		0.0089	False		,,,				2504	0.0184				p.N196N		Atlas-SNP	.											.	CYTH2	33	.	0			c.C588T						PASS	.	C	,	773,3633	313.8+/-293.3	62,649,1492	125	99	108		588,588	4.1	1	19	dbSNP_129	108	165,8435	78.1+/-140.7	1,163,4136	no	coding-synonymous,coding-synonymous	CYTH2	NM_004228.6,NM_017457.5	,	63,812,5628	TT,TC,CC		1.9186,17.5443,7.2121	,	196/400,196/401	48977479	938,12068	2203	4300	6503	SO:0001819	synonymous_variant	9266	exon7			GCTCAACACCAGT	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.588C>T	19.37:g.48977479C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	194	194	1	NM_017457	A8K8P0|Q8IXY9|Q92958	Silent	SNP	ENST00000452733.2	37	CCDS12722.1																																																																																			C|0.937;T|0.063	0.063	strong		0.632	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		T	48977479	C	T	48977479	2	4	22	1	0	0	0	0	0	0	0	1	4204	477	17	2		2	CYTH2	19	48977479	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	290	48977479	10151504	10051	15159										
LMTK3	114783	hgsc.bcm.edu	37	chr19	49001600	49001600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtttcccgttgcccaggActgtcgggtccctgttcagg	12	13	1	0	rs61745738	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49001600A>G	ENST00000600059.1	-	11	2953	c.2726T>C	c.(2725-2727)gTc>gCc	p.V909A	LMTK3_ENST00000270238.3_Missense_Mutation_p.V938A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	909	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTTGCCCAGGACTGTCGGGTC	0.667													G|||	503	0.100439	0.2398	0.0634	5008	,	,		13447	0.0079		0.0527	False		,,,				2504	0.0828				p.V938A		Atlas-SNP	.											.	LMTK3	125	.	0			c.T2813C						PASS	.	G	ALA/VAL	764,3070		85,594,1238	27	31	30		2813	0	0.2	19	dbSNP_129	30	354,7868		9,336,3766	yes	missense	LMTK3	NM_001080434.1	64	94,930,5004	GG,GA,AA		4.3055,19.927,9.2734	benign	938/1490	49001600	1118,10938	1917	4111	6028	SO:0001583	missense	114783	exon12			CCCAGGACTGTCG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2726T>C	19.37:g.49001600A>G	ENSP00000472020:p.Val909Ala	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_001080434	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		185	0.08470695970695971	110	0.22357723577235772	28	0.07734806629834254	6	0.01048951048951049	41	0.05408970976253298	a	0	-2.762715	0.00082	0.19927	0.043055	ENSG00000142235	ENST00000270238	T	0.79033	-1.23	3.89	-0.00579	0.14016	.	1.029000	0.07801	N	0.956498	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.02721	-1.1119	9	0.02654	T	1	.	7.0955	0.25307	0.5615:0.0:0.4385:0.0	.	909	Q96Q04	LMTK3_HUMAN	A	938	ENSP00000270238:V938A	ENSP00000270238:V938A	V	-	2	0	LMTK3	53693412	0.045000	0.20229	0.186000	0.23195	0.001000	0.01503	0.353000	0.20130	-0.400000	0.07656	-0.386000	0.06593	GTC	A|0.922;G|0.078	0.078	strong		0.667	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		G	49001600	A	G	49001600	3	3	22	1	0	0	0	0	1	0	0	0	8860	275	10	2	1676	2	LMTK3	19	49001600	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24121	49001600	10127383	10052	15160										
FAM83E	54854	hgsc.bcm.edu	37	chr19	49116359	49116359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcccgcgtccacatcggTggtggtggctccctctgcca	13	16	1	0	rs447802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49116359T>C	ENST00000263266.3	-	1	460	c.271A>G	c.(271-273)Acc>Gcc	p.T91A	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	91			T -> A (in dbSNP:rs447802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACATCGGTGGTGGTGGCT	0.682													C|||	2759	0.550919	0.7277	0.4986	5008	,	,		12886	0.7431		0.2614	False		,,,				2504	0.4489				p.T91A		Atlas-SNP	.											FAM83E,NS,carcinoma,0,2	FAM83E	34	2	0			c.A271G						scavenged	.						12	21	18					19																	49116359		2090	4216	6306	SO:0001583	missense	54854	exon1			CATCGGTGGTGGT	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.271A>G	19.37:g.49116359T>C	ENSP00000263266:p.Thr91Ala	Somatic	138	3	0.0217391		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_017708	Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	CCDS42587.1	1077	0.49313186813186816	343	0.6971544715447154	160	0.4419889502762431	389	0.6800699300699301	185	0.24406332453825857	C	2.961	-0.214627	0.06101	.	.	ENSG00000105523	ENST00000263266	T	0.10668	2.85	3.79	-5.7	0.02421	.	1.732010	0.03225	N	0.178172	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.42565	-0.9444	9	0.02654	T	1	-0.2116	10.3255	0.43790	0.0:0.5744:0.1163:0.3093	rs447802;rs52796733;rs447802	91	Q2M2I3	FA83E_HUMAN	A	91	ENSP00000263266:T91A	ENSP00000263266:T91A	T	-	1	0	FAM83E	53808171	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.799000	0.01746	-1.443000	0.01953	-1.874000	0.00550	ACC	T|0.521;C|0.479	0.479	strong		0.682	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		C	49116359	T	C	49116359	3	2	22	1	0	0	0	0	1	0	0	0	5637	1696	59	2	1185	2	FAM83E	19	49116359	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	114759	49116359	10012624	10053	15161										
SPHK2	56848	hgsc.bcm.edu	37	chr19	49131317	49131317	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggtctcgggagacgggctGctccatgaggtagagcagga	17	9	1	3	rs116785119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49131317G>T	ENST00000245222.4	+	5	1113	c.747G>T	c.(745-747)ctG>ctT	p.L249L	SPHK2_ENST00000601712.1_Silent_p.L213L|SPHK2_ENST00000600537.1_Silent_p.L190L|SPHK2_ENST00000443164.1_Silent_p.L311L|SPHK2_ENST00000340932.3_Silent_p.L213L|SPHK2_ENST00000599029.1_Silent_p.L213L|SPHK2_ENST00000599748.1_Silent_p.L213L|SPHK2_ENST00000598088.1_Silent_p.L249L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	249	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)		GAGACGGGCTGCTCCATGAGG	0.647													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		16367	0.0		0.0	False		,,,				2504	0.0				p.L249L		Atlas-SNP	.											.	SPHK2	62	.	0			c.G747T						PASS	.	G	,,,	56,4350	55.5+/-91.7	1,54,2148	55	60	58		570,747,639,747	4.6	1	19	dbSNP_132	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	,,,	1,54,6448	TT,TG,GG		0.0,1.271,0.4306	,,,	190/596,249/655,213/619,249/655	49131317	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	56848	exon5			CGGGCTGCTCCAT	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.747G>T	19.37:g.49131317G>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	65	37	0.569231	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																			G|0.996;T|0.004	0.004	strong		0.647	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			T	49131317	G	T	49131317	2	4	22	1	0	0	0	0	0	0	0	1	15046	1306	46	4		4	SPHK2	19	49131317	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14958	49131317	9997666	10054	15162										
SPHK2	56848	hgsc.bcm.edu	37	chr19	49132646	49132646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccgctgggcaccccgctGcccccagactgggtgacgct	12	19	0	2	rs75629654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49132646G>A	ENST00000245222.4	+	7	1947	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	SPHK2_ENST00000600537.1_Silent_p.L468L|SPHK2_ENST00000443164.1_Silent_p.L589L|SPHK2_ENST00000340932.3_Silent_p.L489L|SPHK2_ENST00000599029.1_Silent_p.L491L|SPHK2_ENST00000599748.1_Silent_p.L491L|SPHK2_ENST00000598088.1_Silent_p.L527L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	527					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)		GCACCCCGCTGCCCCCAGACT	0.711													G|||	273	0.0545128	0.1944	0.0216	5008	,	,		12771	0.001		0.0	False		,,,				2504	0.0				p.L527L		Atlas-SNP	.											.	SPHK2	62	.	0			c.G1581A						PASS	.	G	,,,	717,3679		52,613,1533	19	21	20		1404,1581,1473,1581	0.3	0.9	19	dbSNP_131	20	4,8590		0,4,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	,,,	52,617,5826	AA,AG,GG		0.0465,16.3103,5.5504	,,,	468/596,527/655,491/619,527/655	49132646	721,12269	2198	4297	6495	SO:0001819	synonymous_variant	56848	exon7			CCCGCTGCCCCCA	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.1581G>A	19.37:g.49132646G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																			G|0.940;A|0.060	0.060	strong		0.711	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49132646	G	A	49132646	2	1	22	1	0	0	0	0	0	0	0	1	15046	1306	46	2		2	SPHK2	19	49132646	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1329	49132646	9996337	10055	15163										
SPHK2	56848	hgsc.bcm.edu	37	chr19	49133020	49133020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcctggctgcccggggcGggagccctgaaactaaacaa	13	14	0	1	rs11881285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49133020G>A	ENST00000245222.4	+	7	2321	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	SPHK2_ENST00000600537.1_Missense_Mutation_p.R593Q|SPHK2_ENST00000599748.1_Missense_Mutation_p.R616Q|SPHK2_ENST00000598088.1_Missense_Mutation_p.R652Q|SPHK2_ENST00000599029.1_Intron|SPHK2_ENST00000443164.1_Intron|SPHK2_ENST00000340932.3_Missense_Mutation_p.R614Q	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	652			R -> Q (in dbSNP:rs11881285).		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)		TGCCCGGGGCGGGAGCCCTGA	0.657													G|||	274	0.0547125	0.1959	0.0216	5008	,	,		14281	0.0		0.0	False		,,,				2504	0.0				p.R652Q		Atlas-SNP	.											.	SPHK2	62	.	0			c.G1955A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	687,3701		44,599,1551	13	14	13		1955,1847,1955,1778	0.8	0	19	dbSNP_120	13	3,8561		0,3,4279	yes	missense,missense,missense,missense	SPHK2	NM_020126.4,NM_001204160.2,NM_001204159.2,NM_001204158.2	43,43,43,43	44,602,5830	AA,AG,GG		0.035,15.6563,5.3274	benign,benign,benign,benign	652/655,616/619,652/655,593/596	49133020	690,12262	2194	4282	6476	SO:0001583	missense	56848	exon7			CGGGGCGGGAGCC	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.1955G>A	19.37:g.49133020G>A	ENSP00000245222:p.Arg652Gln	Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	165	165	1	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	94	0.04304029304029304	84	0.17073170731707318	10	0.027624309392265192	0	0.0	0	0.0	G	13.95	2.389587	0.42410	0.156563	3.5E-4	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932	T;T	0.26067	2.04;1.76	4.57	0.757	0.18427	.	1.133370	0.06720	N	0.774700	T	0.00039	0.0001	N	0.00926	-1.1	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.01281	0.0;0.0	T	0.29882	-0.9997	10	0.87932	D	0	.	4.2933	0.10888	0.1758:0.4248:0.3994:0.0	rs11881285;rs11881285	593;652	B4DU87;Q9NRA0	.;SPHK2_HUMAN	Q	652;625;614	ENSP00000245222:R652Q;ENSP00000341091:R614Q	ENSP00000245222:R652Q	R	+	2	0	SPHK2	53824832	0.005000	0.15991	0.003000	0.11579	0.039000	0.13416	0.222000	0.17699	0.076000	0.16826	0.555000	0.69702	CGG	G|0.942;A|0.058	0.058	strong		0.657	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49133020	G	A	49133020	3	1	22	1	0	0	0	0	1	0	0	0	15046	1116	39	1	1977	1	SPHK2	19	49133020	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	374	49133020	9995963	10056	15164										
FUT1	2523	hgsc.bcm.edu	37	chr19	49253717	49253717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgtcacatcgccctgggaGgtgtcgatgttttctttaca	10	10	2	0	rs838138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49253717G>T	ENST00000310160.3	-	4	1796	c.822C>A	c.(820-822)acC>acA	p.T274T	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	274					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCCTGGGAGGTGTCGATGT	0.577													G|||	267	0.0533147	0.1884	0.0259	5008	,	,		20123	0.0		0.0	False		,,,				2504	0.0				p.T274T		Atlas-SNP	.											.	FUT1	44	.	0			c.C822A						PASS	.	G		653,3753	279.0+/-274.6	52,549,1602	166	127	140		822	1.1	0.3	19	dbSNP_86	140	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	FUT1	NM_000148.3		52,551,5900	TT,TG,GG		0.0233,14.8207,5.0361		274/366	49253717	655,12351	2203	4300	6503	SO:0001819	synonymous_variant	2523	exon4			CTGGGAGGTGTCG		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.822C>A	19.37:g.49253717G>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	55	55	1	NM_000148	O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	CCDS12733.1																																																																																			G|0.955;T|0.045	0.045	strong		0.577	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		T	49253717	G	T	49253717	2	4	22	1	0	0	0	0	0	0	0	1	6101	987	35	4		4	FUT1	19	49253717	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	120697	49253717	9875266	10057	15165										
HSD17B14	51171	hgsc.bcm.edu	37	chr19	49339098	49339098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccactcgggccccgctgtTcactgagaataggaagggaa	12	11	1	1	rs8110220	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49339098T>C	ENST00000263278.4	-	2	357	c.91A>G	c.(91-93)Aac>Gac	p.N31D	HSD17B14_ENST00000599157.1_Missense_Mutation_p.N31D	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	31			N -> D (in dbSNP:rs8110220).		steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCCCCGCTGTTCACTGAGAAT	0.607											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	1722	0.34385	0.6165	0.2867	5008	,	,		16704	0.0893		0.2674	False		,,,				2504	0.3569				p.N31D		Atlas-SNP	.											.	HSD17B14	25	.	0			c.A91G						PASS	.		ASP/ASN	2378,2028		645,1088,470	87	73	78		91	-1.8	0.1	19	dbSNP_116	78	2126,6472		258,1610,2431	yes	missense	HSD17B14	NM_016246.2	23	903,2698,2901	CC,CT,TT		24.7267,46.0281,34.6355	benign	31/271	49339098	4504,8500	2203	4299	6502	SO:0001583	missense	51171	exon2			CGCTGTTCACTGA	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.91A>G	19.37:g.49339098T>C	ENSP00000263278:p.Asn31Asp	Somatic	56	0	0	961	WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_016246	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	665	0.30448717948717946	285	0.5792682926829268	115	0.31767955801104975	67	0.11713286713286714	198	0.2612137203166227	-	0.019	-1.451578	0.01080	0.539719	0.247267	ENSG00000087076	ENST00000263278	T	0.21031	2.03	3.1	-1.77	0.07982	NAD(P)-binding domain (1);	0.876083	0.09791	N	0.755389	T	0.00012	0.0000	N	0.03891	-0.335	0.52099	P	5.500000000002725E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.41538	-0.9503	9	0.21540	T	0.41	.	4.0567	0.09819	0.0:0.3503:0.3462:0.3035	rs8110220;rs52799828;rs61231150;rs8110220	31	Q9BPX1	DHB14_HUMAN	D	31	ENSP00000263278:N31D	ENSP00000263278:N31D	N	-	1	0	HSD17B14	54030910	0.109000	0.22037	0.063000	0.19743	0.073000	0.16967	-0.043000	0.12043	-0.518000	0.06452	-0.382000	0.06688	AAC	C|0.335;N|0.001	0.335	strong		0.607	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		C	49339098	T	C	49339098	3	2	22	1	0	0	0	0	1	0	0	0	7383	1783	62	2	753	2	HSD17B14	19	49339098	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	85381	49339098	9789885	10058	15166										
PLEKHA4	57664	hgsc.bcm.edu	37	chr19	49368843	49368843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttcccaaaggcgtggaTcttgtttactgcccgggtgg	12	11	2	0	rs506425	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49368843T>C	ENST00000263265.6	-	3	664	c.109A>G	c.(109-111)Atc>Gtc	p.I37V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.I37V	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	37			I -> V (in dbSNP:rs506425). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AAGGCGTGGATCTTGTTTACT	0.597													C|||	2192	0.4377	0.8661	0.3242	5008	,	,		16677	0.1111		0.3032	False		,,,				2504	0.4141				p.I37V		Atlas-SNP	.											.	PLEKHA4	70	.	0			c.A109G						PASS	.	C	VAL/ILE,VAL/ILE	3475,931	357.6+/-314.0	1375,725,103	123	95	105		109,109	4	1	19	dbSNP_83	105	2607,5993	689.4+/-404.4	396,1815,2089	yes	missense,missense	PLEKHA4	NM_001161354.1,NM_020904.2	29,29	1771,2540,2192	CC,CT,TT		30.314,21.1303,46.763	benign,benign	37/584,37/780	49368843	6082,6924	2203	4300	6503	SO:0001583	missense	57664	exon3			CGTGGATCTTGTT	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.109A>G	19.37:g.49368843T>C	ENSP00000263265:p.Ile37Val	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_001161354	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	CCDS12737.1	831	0.3804945054945055	407	0.8272357723577236	123	0.3397790055248619	67	0.11713286713286714	234	0.3087071240105541	C	4.078	0.012294	0.07912	0.788697	0.30314	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.11385	2.78;2.78	5.04	3.98	0.46160	.	0.000000	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00382	-1.575	0.45035	P	0.0019419999999999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31586	-0.9938	9	0.02654	T	1	.	10.4978	0.44788	0.0:0.8265:0.0:0.1735	rs506425;rs17855917;rs57752905;rs506425	37;37	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	V	37	ENSP00000263265:I37V;ENSP00000347683:I37V	ENSP00000263265:I37V	I	-	1	0	PLEKHA4	54060655	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.044000	0.49830	1.270000	0.44297	-0.213000	0.12676	ATC	T|0.549;G|0.003	.	strong		0.597	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			C	49368843	T	C	49368843	3	2	22	1	0	0	0	0	1	0	0	0	12058	1435	50	2	2302	2	PLEKHA4	19	49368843	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29745	49368843	9760140	10059	15167										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49376582	49376582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgatgggcctcctcagccGcgcctggagccgcctgaggg	16	14	1	2	rs564196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49376582G>A	ENST00000200453.5	+	2	361	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	31	Required for localization in the endoplasmic reticulum.		R -> H (in dbSNP:rs564196).		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCTCAGCCGCGCCTGGAGC	0.652													G|||	1372	0.273962	0.5325	0.2262	5008	,	,		16179	0.0873		0.1501	False		,,,				2504	0.2781				p.R31H		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.G92A						PASS	.	G	HIS/ARG	2111,2289		524,1063,613	25	28	27		92	2.2	0.9	19	dbSNP_83	27	1232,7358		75,1082,3138	yes	missense	PPP1R15A	NM_014330.3	29	599,2145,3751	AA,AG,GG		14.3423,47.9773,25.7352	probably-damaging	31/675	49376582	3343,9647	2200	4295	6495	SO:0001583	missense	23645	exon2			TCAGCCGCGCCTG	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.92G>A	19.37:g.49376582G>A	ENSP00000200453:p.Arg31His	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	26	13	0.5	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	499	0.22847985347985347	249	0.5060975609756098	82	0.2265193370165746	54	0.0944055944055944	114	0.1503957783641161	G	17.76	3.468799	0.63625	0.479773	0.143423	ENSG00000087074	ENST00000200453	T	0.05996	3.36	4.28	2.16	0.27623	.	0.226254	0.28606	N	0.014748	T	0.00012	0.0000	L	0.43923	1.385	0.33266	P	0.43964800000000004	D	0.76494	0.999	P	0.57846	0.828	T	0.45264	-0.9273	9	0.72032	D	0.01	-4.0888	6.5741	0.22555	0.2149:0.0:0.7851:0.0	rs564196;rs564196	31	O75807	PR15A_HUMAN	H	31	ENSP00000200453:R31H	ENSP00000200453:R31H	R	+	2	0	PPP1R15A	54068394	0.865000	0.29922	0.897000	0.35233	0.378000	0.30076	1.188000	0.32102	0.758000	0.33059	0.561000	0.74099	CGC	G|0.729;A|0.271	0.271	strong		0.652	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49376582	G	A	49376582	3	1	22	1	0	0	0	0	1	0	0	0	12363	1087	38	1	94	1	PPP1R15A	19	49376582	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7739	49376582	9752401	10060	15168										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377086	49377086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggacgatgaagaagctgTaaagaaagaagctcacagaa	13	5	1	5	rs611251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49377086T>C	ENST00000200453.5	+	2	865	c.596T>C	c.(595-597)gTa>gCa	p.V199A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	199	Glu-rich.		V -> A (in dbSNP:rs611251).		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAAGAAGCTGTAAAGAAAGAA	0.532													T|||	1368	0.273163	0.534	0.2262	5008	,	,		18625	0.0933		0.1521	False		,,,				2504	0.2638				p.V199A		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.T596C						PASS	.	T	ALA/VAL	2102,2304	573.6+/-383.6	513,1076,614	149	161	157		596	0.4	0	19	dbSNP_83	157	1245,7355	249.3+/-276.6	74,1097,3129	yes	missense	PPP1R15A	NM_014330.3	64	587,2173,3743	CC,CT,TT		14.4767,47.7077,25.7343	probably-damaging	199/675	49377086	3347,9659	2203	4300	6503	SO:0001583	missense	23645	exon2			AAGCTGTAAAGAA	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.596T>C	19.37:g.49377086T>C	ENSP00000200453:p.Val199Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	56	31	0.553571	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	513	0.2348901098901099	259	0.5264227642276422	81	0.22375690607734808	57	0.09965034965034965	116	0.15303430079155672	T	10.91	1.483851	0.26598	0.477077	0.144767	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04194	3.68	4.06	0.39	0.16275	.	1.686450	0.03645	N	0.240170	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	B	0.26363	0.147	B	0.19666	0.026	T	0.44159	-0.9346	9	0.02654	T	1	-1.0388	2.3232	0.04216	0.2168:0.2659:0.0:0.5173	rs611251;rs3177847;rs3826819;rs52819950;rs58000193;rs611251	199	O75807	PR15A_HUMAN	A	199;39;157	ENSP00000200453:V199A	ENSP00000200453:V199A	V	+	2	0	PPP1R15A	54068898	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.145000	0.16157	0.236000	0.21180	0.418000	0.28097	GTA	T|0.735;G|0.004	.	strong		0.532	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377086	T	C	49377086	3	2	22	1	0	0	0	0	1	0	0	0	12363	1638	57	2	598	2	PPP1R15A	19	49377086	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	504	49377086	9751897	10061	15169										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377120	49377120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacagaacctctacttctgcCttgtctccaggatccaagcc	6	16	3	1	rs34899467	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49377120C>T	ENST00000200453.5	+	2	899	c.630C>T	c.(628-630)gcC>gcT	p.A210A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	210	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTACTTCTGCCTTGTCTCCAG	0.512													C|||	82	0.0163738	0.0545	0.0014	5008	,	,		18999	0.002		0.0	False		,,,				2504	0.0072				p.A210A		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.C630T						PASS	.	C		201,4205	124.9+/-162.1	2,197,2004	128	141	137		630	-0.7	0	19	dbSNP_126	137	0,8600		0,0,4300	no	coding-synonymous	PPP1R15A	NM_014330.3		2,197,6304	TT,TC,CC		0.0,4.562,1.5454		210/675	49377120	201,12805	2203	4300	6503	SO:0001819	synonymous_variant	23645	exon2			TTCTGCCTTGTCT	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.630C>T	19.37:g.49377120C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	CCDS12738.1																																																																																			C|0.984;T|0.016	0.016	strong		0.512	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		T	49377120	C	T	49377120	2	4	22	1	0	0	0	0	0	0	0	1	12363	668	24	2		2	PPP1R15A	19	49377120	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34	49377120	9751863	10062	15170										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377319	49377319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaggaggaaaaggcacacAaagaaactgggaaaggagaa	14	4	0	3	rs610308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49377319A>G	ENST00000200453.5	+	2	1098	c.829A>G	c.(829-831)Aaa>Gaa	p.K277E		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	277	Glu-rich.		K -> E (in dbSNP:rs610308). {ECO:0000269|PubMed:14702039}.		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AAAGGCACACAAAGAAACTGG	0.612													G|||	2228	0.444888	0.8033	0.3444	5008	,	,		17948	0.1141		0.3539	False		,,,				2504	0.4663				p.K277E		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.A829G						PASS	.	G	GLU/LYS	3295,1111	388.4+/-326.9	1232,831,140	63	78	73		829	-3.1	0	19	dbSNP_83	73	3002,5598	652.0+/-400.9	527,1948,1825	yes	missense	PPP1R15A	NM_014330.3	56	1759,2779,1965	GG,GA,AA		34.907,25.2156,48.4161	benign	277/675	49377319	6297,6709	2203	4300	6503	SO:0001583	missense	23645	exon2			GCACACAAAGAAA	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.829A>G	19.37:g.49377319A>G	ENSP00000200453:p.Lys277Glu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	844	0.38644688644688646	383	0.7784552845528455	127	0.35082872928176795	68	0.11888111888111888	266	0.35092348284960423	G	0.655	-0.808008	0.02819	0.747844	0.34907	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05382	3.45	3.8	-3.11	0.05299	.	2.747870	0.01207	N	0.007758	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33675	-0.9859	9	0.02654	T	1	2.7997	5.5496	0.17083	0.5438:0.1519:0.3044:0.0	rs610308;rs3745701;rs52824100;rs58566411;rs610308	277	O75807	PR15A_HUMAN	E	277;117;235	ENSP00000200453:K277E	ENSP00000200453:K277E	K	+	1	0	PPP1R15A	54069131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.530000	0.06179	-0.994000	0.03463	-1.110000	0.02074	AAA	A|0.546;G|0.454	0.454	strong		0.612	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		G	49377319	A	G	49377319	3	3	22	1	0	0	0	0	1	0	0	0	12363	131	5	2	831	2	PPP1R15A	19	49377319	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	199	49377319	9751664	10063	15171										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377424	49377424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacccagtgatgaagaggagGgtgaggtcaaggctttgggg	18	5	1	4	rs11541192	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49377424G>A	ENST00000200453.5	+	2	1203	c.934G>A	c.(934-936)Ggt>Agt	p.G312S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	312	Glu-rich.		G -> S (in dbSNP:rs11541192). {ECO:0000269|PubMed:14702039}.		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGAAGAGGAGGGTGAGGTCAA	0.612													G|||	765	0.152756	0.2474	0.1023	5008	,	,		18553	0.0179		0.1849	False		,,,				2504	0.1667				p.G312S		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.G934A						PASS	.	G	SER/GLY	1136,3270	402.4+/-332.3	149,838,1216	68	74	72		934	4.3	0	19	dbSNP_120	72	1651,6949	302.0+/-305.7	153,1345,2802	yes	missense	PPP1R15A	NM_014330.3	56	302,2183,4018	AA,AG,GG		19.1977,25.783,21.4286	possibly-damaging	312/675	49377424	2787,10219	2203	4300	6503	SO:0001583	missense	23645	exon2			GAGGAGGGTGAGG	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.934G>A	19.37:g.49377424G>A	ENSP00000200453:p.Gly312Ser	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	165	74	0.448485	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	295	0.13507326007326007	105	0.21341463414634146	40	0.11049723756906077	12	0.02097902097902098	138	0.1820580474934037	G	15.27	2.783964	0.49891	0.25783	0.191977	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05139	3.49	4.26	4.26	0.50523	.	1.634130	0.03436	N	0.208525	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	P	0.34662	0.462	B	0.30855	0.121	T	0.38993	-0.9635	9	0.12103	T	0.63	0.3771	12.5678	0.56320	0.0:0.0:1.0:0.0	rs11541192;rs52818639	312	O75807	PR15A_HUMAN	S	312;152;270	ENSP00000200453:G312S	ENSP00000200453:G312S	G	+	1	0	PPP1R15A	54069236	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.442000	0.21628	2.078000	0.62432	0.650000	0.86243	GGT	G|0.811;A|0.189	0.189	strong		0.612	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49377424	G	A	49377424	3	1	22	1	0	0	0	0	1	0	0	0	12363	1232	43	2	936	2	PPP1R15A	19	49377424	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	105	49377424	9751559	10064	15172										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377436	49377436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaggagggtgaggtcaagGctttgggggcagctgagaag	20	4	1	3	rs556052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49377436G>C	ENST00000200453.5	+	2	1215	c.946G>C	c.(946-948)Gct>Cct	p.A316P		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	316	Glu-rich.		A -> P (in dbSNP:rs556052). {ECO:0000269|PubMed:14702039}.		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGAGGTCAAGGCTTTGGGGGC	0.622													G|||	2132	0.425719	0.7761	0.3329	5008	,	,		18799	0.1151		0.336	False		,,,				2504	0.4305				p.A316P		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.G946C						PASS	.	G	PRO/ALA	3190,1216	705.8+/-407.3	1158,874,171	73	78	76		946	1.2	0	19	dbSNP_83	76	2910,5690	452.5+/-363.0	490,1930,1880	yes	missense	PPP1R15A	NM_014330.3	27	1648,2804,2051	CC,CG,GG		33.8372,27.5987,46.9014	possibly-damaging	316/675	49377436	6100,6906	2203	4300	6503	SO:0001583	missense	23645	exon2			GTCAAGGCTTTGG	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.946G>C	19.37:g.49377436G>C	ENSP00000200453:p.Ala316Pro	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	173	173	1	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	805	0.3685897435897436	358	0.7276422764227642	123	0.3397790055248619	71	0.12412587412587413	253	0.3337730870712401	G	8.601	0.886951	0.17540	0.724013	0.338372	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05319	3.46	4.68	1.24	0.21308	.	1.663540	0.03882	N	0.277310	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	9	0.29301	T	0.29	2.0956	7.9394	0.29950	0.147:0.1372:0.7158:0.0	rs556052;rs3170540;rs3745700;rs556052	316	O75807	PR15A_HUMAN	P	316;156;274	ENSP00000200453:A316P	ENSP00000200453:A316P	A	+	1	0	PPP1R15A	54069248	0.070000	0.21116	0.000000	0.03702	0.000000	0.00434	2.920000	0.48844	-0.076000	0.12775	-1.761000	0.00669	GCT	G|0.568;C|0.432	0.432	strong		0.622	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377436	G	C	49377436	3	2	22	1	0	0	0	0	1	0	0	0	12363	1203	42	4	948	4	PPP1R15A	19	49377436	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	49377436	9751547	10065	15173										
DHDH	27294	hgsc.bcm.edu	37	chr19	49442735	49442735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccgcttctttcctgcctcCgaggctctgaggtctgtttt	9	14	3	1	rs2270940	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49442735C>T	ENST00000221403.2	+	4	436	c.396C>T	c.(394-396)tcC>tcT	p.S132S	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.S132S	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	132					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TTCCTGCCTCCGAGGCTCTGA	0.567													C|||	418	0.0834665	0.2269	0.0259	5008	,	,		17562	0.0268		0.0278	False		,,,				2504	0.046				p.S132S		Atlas-SNP	.											.	DHDH	35	.	0			c.C396T						PASS	.	C		856,3550	335.2+/-303.8	90,676,1437	88	91	90		396	-10.2	0	19	dbSNP_100	90	193,8407	84.2+/-146.7	3,187,4110	no	coding-synonymous	DHDH	NM_014475.3		93,863,5547	TT,TC,CC		2.2442,19.4281,8.0655		132/335	49442735	1049,11957	2203	4300	6503	SO:0001819	synonymous_variant	27294	exon4			TGCCTCCGAGGCT	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.396C>T	19.37:g.49442735C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	112	55	0.491071	NM_014475		Silent	SNP	ENST00000221403.2	37	CCDS12741.1																																																																																			C|0.924;T|0.076	0.076	strong		0.567	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		T	49442735	C	T	49442735	2	4	22	1	0	0	0	0	0	0	0	1	4479	639	23	1		1	DHDH	19	49442735	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	65299	49442735	9686248	10066	15174										
DHDH	27294	hgsc.bcm.edu	37	chr19	49442933	49442933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaagccagagaagatttcTgtcgtgggaaggcgtcatga	14	7	2	4	rs2270939	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49442933T>C	ENST00000221403.2	+	4	634	c.594T>C	c.(592-594)tcT>tcC	p.S198S	DHDH_ENST00000522614.1_Silent_p.S198S|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	198					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGAAGATTTCTGTCGTGGGAA	0.537													C|||	2269	0.453075	0.6982	0.2954	5008	,	,		18321	0.5675		0.2058	False		,,,				2504	0.3701				p.S198S		Atlas-SNP	.											.	DHDH	35	.	0			c.T594C						PASS	.	C		2781,1625	500.0+/-364.6	899,983,321	103	106	105		594	-9.9	0	19	dbSNP_100	105	1492,7108	749.0+/-407.4	130,1232,2938	no	coding-synonymous	DHDH	NM_014475.3		1029,2215,3259	CC,CT,TT		17.3488,36.8815,32.8541		198/335	49442933	4273,8733	2203	4300	6503	SO:0001819	synonymous_variant	27294	exon4			GATTTCTGTCGTG	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.594T>C	19.37:g.49442933T>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_014475		Silent	SNP	ENST00000221403.2	37	CCDS12741.1																																																																																			T|0.623;C|0.377	0.377	strong		0.537	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		C	49442933	T	C	49442933	2	2	22	1	0	0	0	0	0	0	0	1	4479	1567	55	3		3	DHDH	19	49442933	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	198	49442933	9686050	10067	15175										
LHB	3972	hgsc.bcm.edu	37	chr19	49519518	49519518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaagcgcacatcacggtagGtgcacaccacctgaggcagg	13	13	1	1	rs116437960	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49519518G>T	ENST00000221421.2	-	3	232	c.233C>A	c.(232-234)aCc>aAc	p.T78N	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	78					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		ATCACGGTAGGTGCACACCAC	0.677													G|||	71	0.0141773	0.0507	0.0058	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.0				p.T78N		Atlas-SNP	.											.	LHB	20	.	0			c.C233A						PASS	.	G	ASN/THR	181,4223	113.3+/-151.4	8,165,2029	89	80	83		233	1.4	1	19	dbSNP_132	83	3,8595	3.0+/-9.4	0,3,4296	no	missense	LHB	NM_000894.2	65	8,168,6325	TT,TG,GG		0.0349,4.1099,1.4152	benign	78/142	49519518	184,12818	2202	4299	6501	SO:0001583	missense	3972	exon3			CGGTAGGTGCACA		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.233C>A	19.37:g.49519518G>T	ENSP00000221421:p.Thr78Asn	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	119	48	0.403361	NM_000894	Q9UDI0	Missense_Mutation	SNP	ENST00000221421.2	37	CCDS12748.1	23	0.010531135531135532	20	0.04065040650406504	3	0.008287292817679558	0	0.0	0	0.0	G	3.147	-0.175109	0.06421	0.041099	3.49E-4	ENSG00000104826	ENST00000221421;ENST00000391870	D	0.91792	-2.91	4.71	1.35	0.21983	Cystine knot (1);	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	N	0.21448	0.665	0.45390	D	0.998374	B	0.10296	0.003	B	0.12156	0.007	T	0.66011	-0.6029	10	0.32370	T	0.25	-7.5582	11.6053	0.51029	0.0:0.0:0.6162:0.3838	.	78	P01229	LSHB_HUMAN	N	78;94	ENSP00000221421:T78N	ENSP00000221421:T78N	T	-	2	0	LHB	54211330	1.000000	0.71417	0.999000	0.59377	0.009000	0.06853	2.435000	0.44811	0.173000	0.19788	-3.593000	0.00028	ACC	G|0.988;T|0.012	0.012	strong		0.677	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		T	49519518	G	T	49519518	3	4	22	1	0	0	0	0	1	0	0	0	8761	1261	44	4	196	4	LHB	19	49519518	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76585	49519518	9609465	10068	15176										
KCNA7	3743	hgsc.bcm.edu	37	chr19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctgggggtgcccagagtGgaggtggtagctcaggtacc					rs10535426|rs12975537|rs375428032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TGCCCAGAGTGGAGGTGGTAGCT	0.631														725	0.144768	0.2988	0.1398	5008	,	,		15138	0.0486		0.0875	False		,,,				2504	0.0982				p.443_443del	Colon(74;686 1235 3793 23366 48562)	Pindel,Atlas-Indel	.											.	KCNA7	30	.	0			c.1327_1329del						PASS	.			1096,3166		123,850,1158						-0.9	0.9		dbSNP_107	73	770,7484		38,694,3395	no	coding	KCNA7	NM_031886.2		161,1544,4553	A1A1,A1R,RR		9.3288,25.7156,14.9089				1866,10650				SO:0001651	inframe_deletion	3743	exon2			.	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1326_1328delTCC	19.37:g.49573363_49573365delGGA	ENSP00000221444:p.Pro443del	Somatic	64	.	.		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_031886	A1KYX7|Q9BYS4	In_Frame_Del	DEL	ENST00000221444.1	37	CCDS12755.1																																																																																			GGA|0.851;-|0.149	0.149	strong		0.631	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		-	49573365	GGA	-	49573363	7	5	22	1	0	1	0	1	0	0	0	0	8008	1348	47	0	46	0	KCNA7	19	49573363	In_Frame_Del	DEL	GGA	TCGA-G8-6324-01A-11D-2210-10	53845	49573363	9555620	10069	15177										
KCNA7	3743	hgsc.bcm.edu	37	chr19	49573518	49573518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaattggagacaatgacGggcactggcagggaaatagt	14	6	0	3	rs3810188	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49573518G>A	ENST00000221444.1	-	2	1528	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	391					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	AGACAATGACGGGCACTGGCA	0.567													G|||	723	0.144369	0.2988	0.1354	5008	,	,		19724	0.0476		0.0875	False		,,,				2504	0.1002				p.P391P	Colon(74;686 1235 3793 23366 48562)	Atlas-SNP	.											.	KCNA7	30	.	0			c.C1173T						PASS	.	G		1129,3277	403.7+/-332.8	128,873,1202	74	66	69		1173	-9.3	0.1	19	dbSNP_107	69	806,7794	188.0+/-235.1	42,722,3536	no	coding-synonymous	KCNA7	NM_031886.2		170,1595,4738	AA,AG,GG		9.3721,25.6241,14.8777		391/457	49573518	1935,11071	2203	4300	6503	SO:0001819	synonymous_variant	3743	exon2			AATGACGGGCACT	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1173C>T	19.37:g.49573518G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_031886	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			G|0.856;A|0.144	0.144	strong		0.567	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		A	49573518	G	A	49573518	2	1	22	1	0	0	0	0	0	0	0	1	8008	1103	39	1		1	KCNA7	19	49573518	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155	49573518	9555465	10070	15178										
KCNA7	3743	hgsc.bcm.edu	37	chr19	49575304	49575304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccgggccggctgcggctGcagcagcaagccccgtgccg	15	17	1	0	rs77059600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49575304G>A	ENST00000221444.1	-	1	894	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	180				A -> V (in Ref. 3; AAX11186). {ECO:0000305}.	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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGCTGCGGCTGCAGCAGCAAG	0.687													A|||	709	0.141573	0.2837	0.1398	5008	,	,		8486	0.0486		0.0885	False		,,,				2504	0.1012				p.A180V	Colon(74;686 1235 3793 23366 48562)	Atlas-SNP	.											KCNA7,rectum,carcinoma,0,1	KCNA7	30	1	0			c.C539T						scavenged	.	A	VAL/ALA	883,3133		82,719,1207	7	9	8		539	1.8	0	19	dbSNP_131	8	658,7272		33,592,3340	no	missense	KCNA7	NM_031886.2	64	115,1311,4547	AA,AG,GG		8.2976,21.9871,12.8997	benign	180/457	49575304	1541,10405	2008	3965	5973	SO:0001583	missense	3743	exon1			GCGGCTGCAGCAG	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.539C>T	19.37:g.49575304G>A	ENSP00000221444:p.Ala180Val	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	20	13	0.65	NM_031886	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	CCDS12755.1	322	0.14743589743589744	158	0.32113821138211385	62	0.1712707182320442	34	0.05944055944055944	68	0.08970976253298153	A	9.871	1.198847	0.22121	0.219871	0.082976	ENSG00000104848	ENST00000221444	D	0.97620	-4.46	4.28	1.79	0.24919	.	3.155100	0.01167	N	0.006767	T	0.00012	0.0000	N	0.03224	-0.385	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.55503	-0.8131	9	0.27785	T	0.31	.	4.3707	0.11246	0.4332:0.237:0.3298:0.0	.	180	Q96RP8	KCNA7_HUMAN	V	180	ENSP00000221444:A180V	ENSP00000221444:A180V	A	-	2	0	KCNA7	54267116	0.034000	0.19679	0.006000	0.13384	0.002000	0.02628	-0.536000	0.06135	0.175000	0.19841	-0.504000	0.04507	GCA	G|0.847;A|0.153	0.153	strong		0.687	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		A	49575304	G	A	49575304	3	1	22	1	0	0	0	0	1	0	0	0	8008	1319	46	2	839	2	KCNA7	19	49575304	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1786	49575304	9553679	10071	15179										
HRC	3270	hgsc.bcm.edu	37	chr19	49657526	49657526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaacctcttcctttctgtgGtcttggtgcctgtgggcctg	11	12	4	0	rs150557795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49657526G>A	ENST00000252825.4	-	1	1155	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HRC_ENST00000595625.1_Silent_p.D323D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	323	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)		CCTTTCTGTGGTCTTGGTGCC	0.542													G|||	63	0.0125799	0.0401	0.0029	5008	,	,		27949	0.0		0.005	False		,,,				2504	0.0031				p.D323D	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											HRC,NS,carcinoma,0,1	HRC	85	1	0			c.C969T						scavenged	.						212	161	178					19																	49657526		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			TCTGTGGTCTTGG		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.969C>T	19.37:g.49657526G>A		Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	283	36	0.127208	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			G|0.999;A|0.001	0.001	weak		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49657526	G	A	49657526	2	1	22	1	0	0	0	0	0	0	0	1	7352	1252	44	2		2	HRC	19	49657526	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82222	49657526	9471457	10072	15180										
HRC	3270	hgsc.bcm.edu	37	chr19	49657582	49657582	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagacatcatcatcatcatTgtcatcttcttcatggcttc					rs386810104|rs114040533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49657582T>C	ENST00000252825.4	-	1	1099	c.913A>G	c.(913-915)Aat>Gat	p.N305D	HRC_ENST00000595625.1_Missense_Mutation_p.N305D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	305	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)	p.N305D(1)		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)		TCATCATCATTGTCATCTTCT	0.537													C|||	248	0.0495208	0.1657	0.0187	5008	,	,		26355	0.0		0.0099	False		,,,				2504	0.0061				p.N305D	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											HRC,NS,carcinoma,0,1	HRC	85	1	1	Substitution - Missense(1)	prostate(1)	c.A913G						scavenged	.						186	144	158					19																	49657582		2203	4300	6503	SO:0001583	missense	3270	exon1			CATCATTGTCATC		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.913A>G	19.37:g.49657582T>C	ENSP00000252825:p.Asn305Asp	Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	229	65	0.283843	NM_002152	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184868	0.01620	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.30714	1.52	2.45	2.45	0.29901	.	.	.	.	.	T	0.05364	0.0142	N	0.00152	-1.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37596	-0.9699	9	0.02654	T	1	.	5.6115	0.17408	0.0:0.8276:0.0:0.1724	.	305	P23327	SRCH_HUMAN	D	305;4;275	ENSP00000252825:N305D	ENSP00000252825:N305D	N	-	1	0	HRC	54349394	0.000000	0.05858	0.012000	0.15200	0.038000	0.13279	0.339000	0.19875	0.177000	0.19895	-0.355000	0.07637	AAT	T|0.999;C|0.001	0.001	weak		0.537	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657582	T	C	49657582	3	2	22	1	0	0	0	0	1	0	0	0	7352	1812	63	2	1210	2	HRC	19	49657582	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56	49657582	9471401	10073	15181	315	2								
HRC	3270	hgsc.bcm.edu	37	chr19	49657583	49657583	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacatcatcatcatcattGtcatcttcttcatggcttcg					rs144793394|rs386810104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49657583G>A	ENST00000252825.4	-	1	1098	c.912C>T	c.(910-912)gaC>gaT	p.D304D	HRC_ENST00000595625.1_Silent_p.D304D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	304	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)		CATCATCATTGTCATCTTCTT	0.537													A|||	248	0.0495208	0.1657	0.0187	5008	,	,		25781	0.0		0.0099	False		,,,				2504	0.0061				p.D304D	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											.	HRC	85	.	0			c.C912T						PASS	.						185	144	158					19																	49657583		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			ATCATTGTCATCT		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.912C>T	19.37:g.49657583G>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	230	65	0.282609	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			G|0.999;A|0.001	0.001	weak		0.537	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49657583	G	A	49657583	2	1	22	1	0	0	0	0	0	0	0	1	7352	1368	48	2		2	HRC	19	49657583	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	49657583	9471400	10074	15182	315	2								
HRC	3270	hgsc.bcm.edu	37	chr19	49657594	49657595	+	In_Frame_Ins	INS	-	-	TTCTTCTTT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcattgtcatcttcttcINSatggcttcggtgcctgtggc					rs372033596		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49657594_49657595insTTCTTCTTT	ENST00000252825.4	-	1	1086_1087	c.900_901insAAAGAAGAA	c.(898-903)catgaa>catAAAGAAGAAgaa	p.300_301HE>HKEEE	HRC_ENST00000595625.1_In_Frame_Ins_p.300_301HE>HKEEE	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	300	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)		TCATCTTCTTCATGGCTTCGGT	0.545																																					p.E301delinsKEEE	Melanoma(37;75 1097 24567 25669 30645)	Atlas-Indel	.											.	HRC	85	.	0			c.901_902insAAAGAAGAA						PASS	.																																			SO:0001652	inframe_insertion	3270	exon1			.		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.900_901insAAAGAAGAA	19.37:g.49657594_49657595insTTCTTCTTT	ENSP00000252825:p.His300_Glu301insLysGluGlu	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	213	28	0.131455	NM_002152	Q504Y6	In_Frame_Ins	INS	ENST00000252825.4	37	CCDS12759.1																																																																																			.	.	none		0.545	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		TTCTTCTTT	49657595	-	TTCTTCTTT	49657594	7	5	22	1	0	1	1	0	0	0	0	0	7352	835	29	0	1222	0	HRC	19	49657594	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	11	49657594	9471389	10075	15183										
HRC	3270	hgsc.bcm.edu	37	chr19	49658084	49658084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttccgtgtcttcactcccGtggcctctgtgcccacgggc	10	17	4	0	rs57897109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49658084G>A	ENST00000252825.4	-	1	597	c.411C>T	c.(409-411)caC>caT	p.H137H	TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000252826.5_5'Flank|HRC_ENST00000595625.1_Silent_p.H137H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	137	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)		CTTCACTCCCGTGGCCTCTGT	0.602													A|||	515	0.102835	0.2905	0.0461	5008	,	,		18391	0.0179		0.0427	False		,,,				2504	0.0389				p.H137H	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											.	HRC	85	.	0			c.C411T						PASS	.	A		1012,3394	729.3+/-410.0	118,776,1309	165	122	137		411	-3.3	0	19	dbSNP_129	137	304,8296	805.8+/-407.3	6,292,4002	no	coding-synonymous	HRC	NM_002152.2		124,1068,5311	AA,AG,GG		3.5349,22.9687,10.1184		137/700	49658084	1316,11690	2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			ACTCCCGTGGCCT		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.411C>T	19.37:g.49658084G>A		Somatic	308	1	0.00324675		WXS	Illumina HiSeq	Phase_I	352	185	0.525568	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			G|0.903;A|0.097	0.097	strong		0.602	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49658084	G	A	49658084	2	1	22	1	0	0	0	0	0	0	0	1	7352	1136	40	1		1	HRC	19	49658084	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	490	49658084	9470899	10076	15184										
SLC6A16	28968	hgsc.bcm.edu	37	chr19	49793620	49793620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatcaagagcagtgcccaCggtgggtatggtcgaagcac	13	10	2	1	rs34817563	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49793620C>T	ENST00000335875.4	-	12	2212	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	657					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCAGTGCCCACGGTGGGTATG	0.488													T|||	106	0.0211661	0.0711	0.0144	5008	,	,		20056	0.0		0.001	False		,,,				2504	0.001				p.P657P		Atlas-SNP	.											.	SLC6A16	62	.	0			c.G1971A						PASS	.	T		221,3697		6,209,1744	68	66	67		1971	-4.6	0	19	dbSNP_126	67	2,8306		0,2,4152	no	coding-synonymous	SLC6A16	NM_014037.2		6,211,5896	TT,TC,CC		0.0241,5.6406,1.824		657/737	49793620	223,12003	1959	4154	6113	SO:0001819	synonymous_variant	28968	exon12			TGCCCACGGTGGG	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1971G>A	19.37:g.49793620C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	68	0.511278	NM_014037	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																			C|0.989;T|0.011	0.011	strong		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		T	49793620	C	T	49793620	2	4	22	1	0	0	0	0	0	0	0	1	14679	523	19	1		1	SLC6A16	19	49793620	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	135536	49793620	9335363	10077	15185										
TEAD2	8463	hgsc.bcm.edu	37	chr19	49852070	49852070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcgatggggtaggtggggGcaggggtgagagggcttggg	27	3	0	1	rs201393859	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49852070G>A	ENST00000311227.2	-	8	715	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	TEAD2_ENST00000377214.4_Missense_Mutation_p.P212S|TEAD2_ENST00000539846.1_Missense_Mutation_p.P81S|TEAD2_ENST00000601519.1_Missense_Mutation_p.P212S|TEAD2_ENST00000593945.1_Missense_Mutation_p.P213S|TEAD2_ENST00000598810.1_Missense_Mutation_p.P213S|TEAD2_ENST00000598397.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	209	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTAGGTGGGGGCAGGGGTGAG	0.577													G|||	35	0.00698882	0.0265	0.0	5008	,	,		9950	0.0		0.0	False		,,,				2504	0.0				p.P213S		Atlas-SNP	.											.	TEAD2	70	.	0			c.C637T						PASS	.	G	SER/PRO	94,4128		2,90,2019	11	14	13		625	3.6	1	19		13	2,8324		0,2,4161	yes	missense	TEAD2	NM_003598.1	74	2,92,6180	AA,AG,GG		0.024,2.2264,0.7651	benign	209/448	49852070	96,12452	2111	4163	6274	SO:0001583	missense	8463	exon9			GTGGGGGCAGGGG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.625C>T	19.37:g.49852070G>A	ENSP00000310701:p.Pro209Ser	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	127	57	0.448819	NM_001256660	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	5.217	0.225622	0.09916	0.022264	2.4E-4	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.34275	1.37;1.37;1.37	5.73	3.58	0.41010	.	0.229512	0.31031	N	0.008399	T	0.08980	0.0222	N	0.04148	-0.265	0.48975	D	0.999734	B;B;B	0.16166	0.01;0.016;0.006	B;B;B	0.22753	0.018;0.041;0.018	T	0.04930	-1.0917	10	0.30854	T	0.27	-21.1627	11.4865	0.50356	0.1569:0.0:0.8431:0.0	.	81;209;212	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	S	209;212;81	ENSP00000310701:P209S;ENSP00000366419:P212S;ENSP00000437928:P81S	ENSP00000310701:P209S	P	-	1	0	TEAD2	54543882	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	5.441000	0.66569	1.577000	0.49804	-0.150000	0.13652	CCC	G|0.995;A|0.005	0.005	strong		0.577	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		A	49852070	G	A	49852070	3	1	22	1	0	0	0	0	1	0	0	0	15736	1203	42	2	738	2	TEAD2	19	49852070	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	58450	49852070	9276913	10078	15186										
CCDC155	147872	hgsc.bcm.edu	37	chr19	49920719	49920719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggcccgtccccacctccCacctggccccacctccagct	6	24	0	0	rs79452032	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49920719C>T	ENST00000447857.3	+	20	1846	c.1641C>T	c.(1639-1641)ccC>ccT	p.P547P		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	547						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCACCTCCCACCTGGCCCC	0.632													c|||	104	0.0207668	0.0673	0.013	5008	,	,		14619	0.0		0.006	False		,,,				2504	0.0				p.P547P		Atlas-SNP	.											.	CCDC155	46	.	0			c.C1641T						PASS	.			159,4033		5,149,1942	47	49	48		1641	-1.5	0.9	19	dbSNP_132	48	33,8283		1,31,4126	no	coding-synonymous	CCDC155	NM_144688.4		6,180,6068	TT,TC,CC		0.3968,3.7929,1.535		547/563	49920719	192,12316	2096	4158	6254	SO:0001819	synonymous_variant	147872	exon20			ACCTCCCACCTGG		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1641C>T	19.37:g.49920719C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	83	41	0.493976	NM_144688	Q96MC3	Silent	SNP	ENST00000447857.3	37	CCDS46140.1																																																																																			C|0.987;T|0.013	0.013	strong		0.632	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		T	49920719	C	T	49920719	2	4	22	1	0	0	0	0	0	0	0	1	2788	581	21	2		2	CCDC155	19	49920719	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	68649	49920719	9208264	10079	15187										
PIH1D1	55011	hgsc.bcm.edu	37	chr19	49950298	49950298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccagtttggggaggtcaaCttcggccaagaggaggtcgg	16	9	1	1	rs13394	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49950298C>T	ENST00000262265.5	-	7	905	c.670G>A	c.(670-672)Gtt>Att	p.V224I	PIH1D1_ENST00000596049.1_Missense_Mutation_p.V224I|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	224			V -> I (in dbSNP:rs13394). {ECO:0000269|PubMed:15489334}.		box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGGTCAACTTCGGCCAAG	0.592													T|||	3450	0.688898	0.9274	0.6441	5008	,	,		18710	0.4177		0.7545	False		,,,				2504	0.6104				p.V224I		Atlas-SNP	.											PIH1D1,bladder,carcinoma,+1,1	PIH1D1	23	1	0			c.G670A						PASS	.	T	ILE/VAL	3935,471	221.7+/-238.7	1757,421,25	111	113	113		670	2.7	1	19	dbSNP_52	113	6597,2003	350.3+/-327.8	2521,1555,224	yes	missense	PIH1D1	NM_017916.2	29	4278,1976,249	TT,TC,CC		23.2907,10.69,19.022	benign	224/291	49950298	10532,2474	2203	4300	6503	SO:0001583	missense	55011	exon7			GGTCAACTTCGGC	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.670G>A	19.37:g.49950298C>T	ENSP00000262265:p.Val224Ile	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_017916	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	CCDS12765.1	1476	0.6758241758241759	455	0.9247967479674797	240	0.6629834254143646	223	0.38986013986013984	558	0.7361477572559367	T	0.623	-0.820476	0.02755	0.8931	0.767093	ENSG00000104872	ENST00000262265	T	0.16196	2.36	4.76	2.67	0.31697	.	0.125124	0.51477	N	0.000095	T	0.00012	0.0000	N	0.05574	-0.02	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.38993	-0.9635	9	0.02654	T	1	-3.9055	5.9494	0.19237	0.0:0.3278:0.0:0.6722	rs13394;rs1127153;rs3182727;rs17239224;rs17357674;rs58359049;rs13394	224	Q9NWS0	PIHD1_HUMAN	I	224	ENSP00000262265:V224I	ENSP00000262265:V224I	V	-	1	0	PIH1D1	54642110	0.974000	0.33945	1.000000	0.80357	0.592000	0.36648	0.159000	0.16442	0.425000	0.26087	-0.254000	0.11334	GTT	C|0.264;N|0.000	.	strong		0.592	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		T	49950298	C	T	49950298	3	4	22	1	0	0	0	0	1	0	0	0	11906	565	20	2	214	2	PIH1D1	19	49950298	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29579	49950298	9178685	10080	15188										
PIH1D1	55011	hgsc.bcm.edu	37	chr19	49950356	49950356	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggtgaggcttttcaggCctgaggaggaacaaggtcca	14	8	2	2	rs397831687|rs12443	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49950356C>G	ENST00000262265.5	-	7	847	c.612G>C	c.(610-612)ggG>ggC	p.G204G	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Splice_Site_p.G204G	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	204					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCTTTTCAGGCCTGAGGAGGA	0.607													G|||	3395	0.677915	0.8964	0.6412	5008	,	,		19297	0.4067		0.7545	False		,,,				2504	0.6094				p.G204G		Atlas-SNP	.											PIH1D1,NS,carcinoma,0,1	PIH1D1	23	1	0			c.G612C						PASS	.	G		3797,609	263.4+/-265.5	1638,521,44	82	84	83		612	3.5	1	19	dbSNP_52	83	6595,2005	348.7+/-327.1	2519,1557,224	yes	coding-synonymous-near-splice	PIH1D1	NM_017916.2		4157,2078,268	GG,GC,CC		23.314,13.8221,20.0984		204/291	49950356	10392,2614	2203	4300	6503	SO:0001630	splice_region_variant	55011	exon7			TTCAGGCCTGAGG	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.612-1G>C	19.37:g.49950356C>G		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_017916	B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	CCDS12765.1																																																																																			C|0.246;G|0.754	0.754	strong		0.607	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916	Silent	G	49950356	C	G	49950356	5	3	22	1	0	0	0	0	0	0	1	0	11906	753	26	4	272	4	PIH1D1	19	49950356	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58	49950356	9178627	10081	15189										
ALDH16A1	126133	hgsc.bcm.edu	37	chr19	49965956	49965956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acatgggggcccggggggctGccgcatgtgacctggtccag	18	12	0	1	rs10406757	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49965956G>A	ENST00000293350.4	+	8	1205	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.A183T|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.A185T|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A297T	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	348						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCGGGGGGCTGCCGCATGTGA	0.687													G|||	187	0.0373403	0.1324	0.0159	5008	,	,		12025	0.0		0.001	False		,,,				2504	0.0				p.A348T		Atlas-SNP	.											.	ALDH16A1	54	.	0			c.G1042A						PASS	.	G	THR/ALA,THR/ALA	423,3981		21,381,1800	23	26	25		889,1042	2.8	0.5	19	dbSNP_119	25	4,8592		0,4,4294	yes	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	58,58	21,385,6094	AA,AG,GG		0.0465,9.6049,3.2846	probably-damaging,probably-damaging	297/752,348/803	49965956	427,12573	2202	4298	6500	SO:0001583	missense	126133	exon8			GGGGCTGCCGCAT	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1042G>A	19.37:g.49965956G>A	ENSP00000293350:p.Ala348Thr	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	323	171	0.529412	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	52	0.023809523809523808	45	0.09146341463414634	7	0.019337016574585635	0	0.0	0	0.0	G	13.56	2.274535	0.40194	0.096049	4.65E-4	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.03	2.77	0.32553	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.412335	0.24688	N	0.036418	T	0.11410	0.0278	L	0.55834	1.745	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.69307	0.943;0.963;0.932	T	0.22906	-1.0203	10	0.32370	T	0.25	-22.8219	6.9006	0.24281	0.0956:0.0:0.7322:0.1723	rs10406757	185;297;348	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	T	348;297;185;183	ENSP00000293350:A348T;ENSP00000410142:A297T;ENSP00000445088:A185T;ENSP00000398675:A183T	ENSP00000293350:A348T	A	+	1	0	ALDH16A1	54657768	0.494000	0.26043	0.530000	0.27963	0.649000	0.38597	3.254000	0.51477	1.286000	0.44565	0.485000	0.47835	GCC	A|0.034;C|0.000;G|0.965	0.034	strong		0.687	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49965956	G	A	49965956	3	1	22	1	0	0	0	0	1	0	0	0	488	1319	46	2	1072	2	ALDH16A1	19	49965956	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15600	49965956	9163027	10082	15190										
ALDH16A1	126133	hgsc.bcm.edu	37	chr19	49967996	49967996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgttccctcaaccctgccGgctgggcctgaaatagggcc	12	15	1	1	rs10421522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49967996G>A	ENST00000293350.4	+	12	1708	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	ALDH16A1_ENST00000540132.1_Silent_p.P352P|ALDH16A1_ENST00000455361.2_Silent_p.P464P|ALDH16A1_ENST00000433981.2_Silent_p.P350P|CTD-3148I10.9_ENST00000599536.1_3'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	515						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CAACCCTGCCGGCTGGGCCTG	0.617													g|||	197	0.0393371	0.1399	0.0159	5008	,	,		14923	0.0		0.001	False		,,,				2504	0.0				p.P515P		Atlas-SNP	.											.	ALDH16A1	54	.	0			c.G1545A						PASS	.	A	,	461,3945	218.4+/-236.5	24,413,1766	105	113	111		1392,1545	-8.9	0	19	dbSNP_119	111	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	ALDH16A1	NM_001145396.1,NM_153329.3	,	24,418,6061	AA,AG,GG		0.0581,10.463,3.583	,	464/752,515/803	49967996	466,12540	2203	4300	6503	SO:0001819	synonymous_variant	126133	exon12			CCTGCCGGCTGGG	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1545G>A	19.37:g.49967996G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	79	40	0.506329	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	CCDS12766.1																																																																																			G|0.964;A|0.036	0.036	strong		0.617	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49967996	G	A	49967996	2	1	22	1	0	0	0	0	0	0	0	1	488	1103	39	1		1	ALDH16A1	19	49967996	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2040	49967996	9160987	10083	15191										
ALDH16A1	126133	hgsc.bcm.edu	37	chr19	49969501	49969501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgcaagacgacttcgggcGtggggggcccgggtgcaggc	20	11	0	1	rs61732839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49969501G>A	ENST00000293350.4	+	14	2062	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	ALDH16A1_ENST00000433981.2_Silent_p.A468A|ALDH16A1_ENST00000540132.1_Silent_p.A470A|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.A582A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	633						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GACTTCGGGCGTGGGGGGCCC	0.716													G|||	188	0.0375399	0.1324	0.0159	5008	,	,		14127	0.001		0.001	False		,,,				2504	0.0				p.A633A		Atlas-SNP	.											.	ALDH16A1	54	.	0			c.G1899A						PASS	.	G	,	360,3874		8,344,1765	9	11	11		1746,1899	-8.7	0	19	dbSNP_129	11	9,8349		0,9,4170	no	coding-synonymous,coding-synonymous	ALDH16A1	NM_001145396.1,NM_153329.3	,	8,353,5935	AA,AG,GG		0.1077,8.5026,2.9304	,	582/752,633/803	49969501	369,12223	2117	4179	6296	SO:0001819	synonymous_variant	126133	exon14			TCGGGCGTGGGGG	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1899G>A	19.37:g.49969501G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	CCDS12766.1																																																																																			G|0.975;A|0.025	0.025	strong		0.716	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49969501	G	A	49969501	2	1	22	1	0	0	0	0	0	0	0	1	488	1132	40	1		1	ALDH16A1	19	49969501	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1505	49969501	9159482	10084	15192										
ALDH16A1	126133	hgsc.bcm.edu	37	chr19	49969522	49969522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggggcccgggtgcaggcCcaaggccacaccctgcaggt	17	14	0	0	rs116631301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49969522C>T	ENST00000293350.4	+	14	2083	c.1920C>T	c.(1918-1920)gcC>gcT	p.A640A	ALDH16A1_ENST00000433981.2_Silent_p.A475A|ALDH16A1_ENST00000540132.1_Silent_p.A477A|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.A589A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	640						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGTGCAGGCCCAAGGCCACA	0.701													C|||	44	0.00878594	0.031	0.0043	5008	,	,		14666	0.0		0.0	False		,,,				2504	0.0				p.A640A		Atlas-SNP	.											.	ALDH16A1	54	.	0			c.C1920T						PASS	.	C	,	145,4033		0,145,1944	7	9	8		1767,1920	3.3	1	19	dbSNP_132	8	3,8237		0,3,4117	no	coding-synonymous,coding-synonymous	ALDH16A1	NM_001145396.1,NM_153329.3	,	0,148,6061	TT,TC,CC		0.0364,3.4706,1.1918	,	589/752,640/803	49969522	148,12270	2089	4120	6209	SO:0001819	synonymous_variant	126133	exon14			GCAGGCCCAAGGC	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1920C>T	19.37:g.49969522C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	CCDS12766.1																																																																																			C|0.992;T|0.008	0.008	strong		0.701	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		T	49969522	C	T	49969522	2	4	22	1	0	0	0	0	0	0	0	1	488	610	22	2		2	ALDH16A1	19	49969522	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21	49969522	9159461	10085	15193										
FLT3LG	2323	hgsc.bcm.edu	37	chr19	49977929	49977929	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgccagcctggagcccaacAgtgcgtaaaccccagggaca	12	15	0	0	rs75750998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:49977929A>G	ENST00000594009.1	+	1	112	c.33A>G	c.(31-33)acA>acG	p.T11T	FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_Splice_Site_p.T11T|CTD-3148I10.9_ENST00000599536.1_3'UTR|FLT3LG_ENST00000597551.1_Splice_Site_p.T11T|FLT3LG_ENST00000596435.1_Splice_Site_p.T11T|FLT3LG_ENST00000344019.3_Splice_Site_p.T11T|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	11					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGAGCCCAACAGTGCGTAAAC	0.612													a|||	162	0.0323482	0.1036	0.0259	5008	,	,		12436	0.0		0.007	False		,,,				2504	0.0				p.T11T		Atlas-SNP	.											.	FLT3LG	22	.	0			c.A33G						PASS	.	A	,,	347,4059	173.0+/-202.9	13,321,1869	40	38	38		33,33,33	-4.8	0.9	19	dbSNP_131	38	13,8585	9.8+/-36.6	0,13,4286	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	FLT3LG	NM_001204502.1,NM_001204503.1,NM_001459.3	,,	13,334,6155	GG,GA,AA		0.1512,7.8756,2.7684	,,	11/236,11/236,11/236	49977929	360,12644	2203	4299	6502	SO:0001630	splice_region_variant	2323	exon1			CCCAACAGTGCGT	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.33+1A>G	19.37:g.49977929A>G		Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	357	183	0.512605	NM_001204503	A0AVC2|B9EGH2|Q05C96	Silent	SNP	ENST00000594009.1	37	CCDS12767.1																																																																																			A|0.974;G|0.026	0.026	strong		0.612	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Silent	G	49977929	A	G	49977929	5	3	22	1	0	0	0	0	0	0	1	0	5943	202	7	3	35	3	FLT3LG	19	49977929	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8407	49977929	9151054	10086	15194										
FCGRT	2217	hgsc.bcm.edu	37	chr19	50017191	50017191	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggtgtcctcgcctgccccGgggactcctgccttctgggt	14	16	1	0	rs11551281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50017191G>T	ENST00000221466.5	+	3	612	c.126G>T	c.(124-126)ccG>ccT	p.P42P	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.P42P|FCGRT_ENST00000596975.1_Silent_p.P42P	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	42	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CGCCTGCCCCGGGGACTCCTG	0.652													G|||	98	0.0195687	0.0363	0.0029	5008	,	,		13393	0.0456		0.0	False		,,,				2504	0.002				p.P42P		Atlas-SNP	.											.	FCGRT	23	.	0			c.G126T						PASS	.	G	,	151,4255	103.0+/-141.5	3,145,2055	108	109	109		126,126	-5.5	0	19	dbSNP_120	109	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	FCGRT	NM_001136019.2,NM_004107.4	,	3,148,6352	TT,TG,GG		0.0349,3.4271,1.1841	,	42/366,42/366	50017191	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	2217	exon3			TGCCCCGGGGACT	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.126G>T	19.37:g.50017191G>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	162	88	0.54321	NM_001136019	Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	CCDS12770.1																																																																																			G|0.984;T|0.016	0.016	strong		0.652	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			T	50017191	G	T	50017191	2	4	22	1	0	0	0	0	0	0	0	1	5786	1103	39	4		4	FCGRT	19	50017191	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39262	50017191	9111792	10087	15195										
FCGRT	2217	hgsc.bcm.edu	37	chr19	50017724	50017724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcacctggagaggggccgCggaaacctggagtggaaggg	20	8	0	1	rs2878342	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50017724C>T	ENST00000221466.5	+	4	1068	c.582C>T	c.(580-582)cgC>cgT	p.R194R	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.R194R|FCGRT_ENST00000596975.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	194	Alpha-2.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGAGGGGCCGCGGAAACCTGG	0.662													C|||	735	0.146765	0.348	0.1023	5008	,	,		14689	0.0238		0.0855	False		,,,				2504	0.0961				p.R194R		Atlas-SNP	.											FCGRT,NS,carcinoma,0,1	FCGRT	23	1	0			c.C582T						PASS	.	C	,	1477,2929		246,985,972	19	22	21		582,582	-8.6	0	19	dbSNP_101	21	718,7874		30,658,3608	no	coding-synonymous,coding-synonymous	FCGRT	NM_001136019.2,NM_004107.4	,	276,1643,4580	TT,TC,CC		8.3566,33.5225,16.8872	,	194/366,194/366	50017724	2195,10803	2203	4296	6499	SO:0001819	synonymous_variant	2217	exon4			GGGCCGCGGAAAC	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.582C>T	19.37:g.50017724C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_001136019	Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	CCDS12770.1	277	0.12683150183150182	165	0.3353658536585366	37	0.10220994475138122	17	0.02972027972027972	58	0.07651715039577836	C	5.219	0.225948	0.09916	0.335225	0.083566	ENSG00000104870	ENST00000415900	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.40526	P	0.01911099999999999	.	.	.	.	.	.	T	0.18461	-1.0336	4	0.87932	D	0	.	3.8572	0.08981	0.231:0.5127:0.1636:0.0928	rs2878342;rs2878342	.	.	.	V	140	.	ENSP00000391574:A140V	A	+	2	0	FCGRT	54709536	0.000000	0.05858	0.000000	0.03702	0.689000	0.40095	-4.406000	0.00239	-4.568000	0.00042	-1.203000	0.01651	GCG	C|0.846;T|0.154	0.154	strong		0.662	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			T	50017724	C	T	50017724	2	4	22	1	0	0	0	0	0	0	0	1	5786	755	27	1		1	FCGRT	19	50017724	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	533	50017724	9111259	10088	15196										
PRRG2	5639	hgsc.bcm.edu	37	chr19	50086806	50086806	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttgggtccagaagtcttCctgggtcccccagaggccca	11	14	2	2	rs3745474	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50086806C>T	ENST00000246794.5	+	3	262	c.93C>T	c.(91-93)ttC>ttT	p.F31F	NOSIP_ENST00000339093.3_5'Flank|NOSIP_ENST00000596358.1_5'Flank|PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	31						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAAGTCTTCCTGGGTCCCC	0.587													C|||	1502	0.29992	0.4849	0.2622	5008	,	,		16279	0.1875		0.173	False		,,,				2504	0.3231				p.F31F		Atlas-SNP	.											PRRG2,NS,carcinoma,0,1	PRRG2	13	1	0			c.C93T						PASS	.	C		1862,2544		403,1056,744	77	90	86		93	3.8	1	19	dbSNP_107	86	1575,7025		128,1319,2853	no	coding-synonymous	PRRG2	NM_000951.2		531,2375,3597	TT,TC,CC		18.314,42.2606,26.4263		31/203	50086806	3437,9569	2203	4300	6503	SO:0001819	synonymous_variant	5639	exon3			AGTCTTCCTGGGT		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.93C>T	19.37:g.50086806C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_000951	Q6IBF8	Silent	SNP	ENST00000246794.5	37	CCDS12773.1																																																																																			C|0.741;T|0.259	0.259	strong		0.587	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		T	50086806	C	T	50086806	2	4	22	1	0	0	0	0	0	0	0	1	12606	854	30	2		2	PRRG2	19	50086806	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69082	50086806	9042177	10089	15197										
PRRG2	5639	hgsc.bcm.edu	37	chr19	50091798	50091798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggctgtggggctgacaGgtggcatcctgctcattgtc	15	11	1	1	rs2288920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50091798G>T	ENST00000246794.5	+	5	515	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	116			G -> C (in dbSNP:rs2288920).			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GGGGCTGACAGGTGGCATCCT	0.652													T|||	1494	0.298323	0.4849	0.2622	5008	,	,		16533	0.1905		0.171	False		,,,				2504	0.3139				p.G116C		Atlas-SNP	.											.	PRRG2	13	.	0			c.G346T						PASS	.	T	CYS/GLY	1855,2547		395,1065,741	41	33	35		346	1.9	0	19	dbSNP_100	35	1523,7065		124,1275,2895	yes	missense	PRRG2	NM_000951.2	159	519,2340,3636	TT,TG,GG		17.734,42.1399,26.0046	benign	116/203	50091798	3378,9612	2201	4294	6495	SO:0001583	missense	5639	exon5			CTGACAGGTGGCA		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.346G>T	19.37:g.50091798G>T	ENSP00000246794:p.Gly116Cys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	127	127	1	NM_000951	Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	CCDS12773.1	544	0.2490842490842491	218	0.44308943089430897	83	0.2292817679558011	119	0.20804195804195805	124	0.16358839050131926	T	2.900	-0.227794	0.06022	0.421399	0.17734	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.97256	-4.31	5.48	1.92	0.25849	.	0.772653	0.11182	N	0.590830	T	0.00012	0.0000	N	0.04959	-0.14	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10917	-1.0609	9	0.39692	T	0.17	-1.6363	13.7371	0.62824	0.0:0.0:0.7095:0.2904	rs2288920;rs17856738;rs58269970;rs2288920	93;116	F5GZ13;O14669	.;TMG2_HUMAN	C	116;93	ENSP00000246794:G116C	ENSP00000246794:G116C	G	+	1	0	PRRG2	54783610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.274000	0.18680	0.038000	0.15604	-0.362000	0.07510	GGT	G|0.723;T|0.277	0.277	strong		0.652	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		T	50091798	G	T	50091798	3	4	22	1	0	0	0	0	1	0	0	0	12606	1000	35	4	360	4	PRRG2	19	50091798	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4992	50091798	9037185	10090	15198										
PRR12	57479	hgsc.bcm.edu	37	chr19	50097784	50097784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgcctccgtcatgaacctTatctcggccctggaatcccg	9	16	2	1	rs10414643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50097784T>C	ENST00000418929.2	+	3	285	c.273T>C	c.(271-273)ctT>ctC	p.L91L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCATGAACCTTATCTCGGCCC	0.667													C|||	1791	0.357628	0.5499	0.2954	5008	,	,		14010	0.1915		0.2247	False		,,,				2504	0.4499				p.L91L		Atlas-SNP	.											PRR12_ENST00000418929,NS,carcinoma,0,1	PRR12	157	1	0			c.T273C						PASS	.	C		1892,1904		466,960,472	40	49	46		273	3.6	1	19	dbSNP_119	46	1962,6220		219,1524,2348	no	coding-synonymous	PRR12	NM_020719.1		685,2484,2820	CC,CT,TT		23.9795,49.8419,32.1757		91/2037	50097784	3854,8124	1898	4091	5989	SO:0001819	synonymous_variant	57479	exon3			GAACCTTATCTCG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.273T>C	19.37:g.50097784T>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	82	82	1	NM_020719	E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	CCDS46143.1																																																																																			T|0.712;C|0.288	0.288	strong		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		C	50097784	T	C	50097784	2	2	22	1	0	0	0	0	0	0	0	1	12584	1741	61	2		2	PRR12	19	50097784	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5986	50097784	9031199	10091	15199										
PRR12	57479	hgsc.bcm.edu	37	chr19	50098423	50098423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgccccgggcccaccgccGcctgagcgggccctgccacg	14	21	0	1	rs12462756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50098423G>A	ENST00000418929.2	+	4	843	c.831G>A	c.(829-831)ccG>ccA	p.P277P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCCACCGCCGCCTGAGCGGG	0.706													G|||	1493	0.298123	0.4962	0.2594	5008	,	,		7581	0.1855		0.17	False		,,,				2504	0.3057				p.P277P		Atlas-SNP	.											.	PRR12	157	.	0			c.G831A						PASS	.	G		1275,2067		250,775,646	7	8	8		831	-5.6	0.2	19	dbSNP_120	8	1150,6072		104,942,2565	no	coding-synonymous	PRR12	NM_020719.1		354,1717,3211	AA,AG,GG		15.9236,38.1508,22.9553		277/2037	50098423	2425,8139	1671	3611	5282	SO:0001819	synonymous_variant	57479	exon4			ACCGCCGCCTGAG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.831G>A	19.37:g.50098423G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	93	91	0.978495	NM_020719	E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	CCDS46143.1																																																																																			G|0.749;A|0.251	0.251	strong		0.706	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50098423	G	A	50098423	2	1	22	1	0	0	0	0	0	0	0	1	12584	1074	38	1		1	PRR12	19	50098423	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	639	50098423	9030560	10092	15200										
PRR12	57479	hgsc.bcm.edu	37	chr19	50099422	50099422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagctggcagctatgcagcCggagcaggtggctacaaggg	18	9	0	0	rs73058052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50099422C>T	ENST00000418929.2	+	4	1842	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCTATGCAGCCGGAGCAGGTG	0.657													C|||	718	0.143371	0.1407	0.0778	5008	,	,		14479	0.0208		0.168	False		,,,				2504	0.2945				p.A610A		Atlas-SNP	.											.	PRR12	157	.	0			c.C1830T						PASS	.	C		564,3410		49,466,1472	22	29	27		1830	-7.6	0.4	19	dbSNP_130	27	1406,6916		105,1196,2860	no	coding-synonymous	PRR12	NM_020719.1		154,1662,4332	TT,TC,CC		16.895,14.1922,16.0215		610/2037	50099422	1970,10326	1987	4161	6148	SO:0001819	synonymous_variant	57479	exon4			TGCAGCCGGAGCA	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1830C>T	19.37:g.50099422C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	94	38	0.404255	NM_020719	E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	CCDS46143.1																																																																																			C|0.876;T|0.124	0.124	strong		0.657	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		T	50099422	C	T	50099422	2	4	22	1	0	0	0	0	0	0	0	1	12584	639	23	1		1	PRR12	19	50099422	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	999	50099422	9029561	10093	15201										
PRR12	57479	hgsc.bcm.edu	37	chr19	50100295	50100295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggatactggcgtaggcccAccaaactcggagggcaagga	16	10	0	0	rs3745475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50100295A>G	ENST00000418929.2	+	4	2715	c.2703A>G	c.(2701-2703)ccA>ccG	p.P901P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCGTAGGCCCACCAAACTCGG	0.701													G|||	1877	0.3748	0.6263	0.3012	5008	,	,		9501	0.1915		0.2157	False		,,,				2504	0.4397				p.P901P		Atlas-SNP	.											.	PRR12	157	.	0			c.A2703G						PASS	.	G		1762,1864		429,904,480	4	6	6		2703	-9.3	0	19	dbSNP_107	6	1562,6316		152,1258,2529	no	coding-synonymous	PRR12	NM_020719.1		581,2162,3009	GG,GA,AA		19.8274,48.5935,28.8943		901/2037	50100295	3324,8180	1813	3939	5752	SO:0001819	synonymous_variant	57479	exon4			AGGCCCACCAAAC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2703A>G	19.37:g.50100295A>G		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_020719	E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	CCDS46143.1																																																																																			A|0.688;G|0.312	0.312	strong		0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		G	50100295	A	G	50100295	2	3	22	1	0	0	0	0	0	0	0	1	12584	146	6	2		2	PRR12	19	50100295	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	873	50100295	9028688	10094	15202										
SCAF1	58506	hgsc.bcm.edu	37	chr19	50156762	50156762	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagaggaagaggaggaggAgcagcagcctgctaccacca	16	9	0	2	rs201628577		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50156762A>T	ENST00000360565.3	+	7	3240	c.3116A>T	c.(3115-3117)gAg>gTg	p.E1039V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1039	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		gaggaggaggagCAGCAGCCT	0.692																																					p.E1039V		Atlas-SNP	.											.	SCAF1	78	.	0			c.A3116T						PASS	.	A	VAL/GLU	4,4388		0,4,2192	9	12	11		3116	4.7	1	19		11	0,8566		0,0,4283	no	missense	SCAF1	NM_021228.2	121	0,4,6475	TT,TA,AA		0.0,0.0911,0.0309	possibly-damaging	1039/1313	50156762	4,12954	2196	4283	6479	SO:0001583	missense	58506	exon7			AGGAGGAGCAGCA	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3116A>T	19.37:g.50156762A>T	ENSP00000353769:p.Glu1039Val	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395512	0.25205	9.11E-4	0.0	ENSG00000126461	ENST00000360565	T	0.33865	1.39	5.74	4.67	0.58626	.	.	.	.	.	T	0.25344	0.0616	N	0.19112	0.55	0.24915	N	0.992013	P	0.41131	0.739	B	0.41332	0.354	T	0.05784	-1.0864	8	.	.	.	-21.1177	9.6199	0.39714	0.8441:0.0:0.0:0.1559	.	1039	Q9H7N4	SFR19_HUMAN	V	1039	ENSP00000353769:E1039V	.	E	+	2	0	SCAF1	54848574	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	1.552000	0.36244	2.189000	0.69895	0.533000	0.62120	GAG	.	.	weak		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50156762	A	T	50156762	3	4	22	1	0	0	0	0	1	0	0	0	13868	304	11	5	3138	5	SCAF1	19	50156762	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	56467	50156762	8972221	10095	15203										
SCAF1	58506	hgsc.bcm.edu	37	chr19	50157980	50157980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcccacctctttgggtctGccccctggcccctccagcta	9	19	2	0	rs61741228	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50157980G>A	ENST00000360565.3	+	9	3595	c.3471G>A	c.(3469-3471)ctG>ctA	p.L1157L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1157					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTTTGGGTCTGCCCCCTGGCC	0.672													g|||	32	0.00638978	0.0234	0.0014	5008	,	,		15138	0.0		0.0	False		,,,				2504	0.0				p.L1157L		Atlas-SNP	.											.	SCAF1	78	.	0			c.G3471A						PASS	.			84,4322	71.4+/-109.4	2,80,2121	85	77	80		3471	-1	1	19	dbSNP_129	80	0,8600		0,0,4300	no	coding-synonymous	SCAF1	NM_021228.2		2,80,6421	AA,AG,GG		0.0,1.9065,0.6459		1157/1313	50157980	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	58506	exon9			GGGTCTGCCCCCT	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3471G>A	19.37:g.50157980G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																			G|0.993;A|0.007	0.007	strong		0.672	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		A	50157980	G	A	50157980	2	1	22	1	0	0	0	0	0	0	0	1	13868	1306	46	2		2	SCAF1	19	50157980	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1218	50157980	8971003	10096	15204										
IRF3	3661	hgsc.bcm.edu	37	chr19	50162909	50162909	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgaggagcgagggctcagCtctccccagggccctggaaa	14	13	2	1	rs7251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50162909C>G	ENST00000597198.1	-	8	1661	c.1280G>C	c.(1279-1281)aGc>aCc	p.S427T	IRF3_ENST00000599144.1_Missense_Mutation_p.S281T|IRF3_ENST00000600911.1_Missense_Mutation_p.E388D|IRF3_ENST00000599223.1_Missense_Mutation_p.S300T|IRF3_ENST00000596822.1_Missense_Mutation_p.E115D|IRF3_ENST00000598808.1_Missense_Mutation_p.S281T|IRF3_ENST00000600022.1_Missense_Mutation_p.S154T|IRF3_ENST00000377139.3_Missense_Mutation_p.S427T|IRF3_ENST00000593922.1_Missense_Mutation_p.S281T|IRF3_ENST00000601291.1_Missense_Mutation_p.E432D|IRF3_ENST00000377135.4_Missense_Mutation_p.S300T|IRF3_ENST00000309877.7_Missense_Mutation_p.S427T|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596765.1_Missense_Mutation_p.S154T			Q14653	IRF3_HUMAN	interferon regulatory factor 3	427			S -> T (in dbSNP:rs7251). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.S427T(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GAGGGCTCAGCTCTCCCCAGG	0.587													G|||	2427	0.484625	0.708	0.4409	5008	,	,		17387	0.3571		0.333	False		,,,				2504	0.501				p.E432D		Atlas-SNP	.											IRF3,NS,carcinoma,0,1	IRF3	27	1	1	Substitution - Missense(1)	stomach(1)	c.G1296C						PASS	.	G	ASP/GLU,THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,THR/SER	2920,1484	467.0+/-354.7	986,948,268	108	91	97		1296,1175,899,842,842,461,461,1280	-1.1	0	19	dbSNP_52	97	2715,5879	670.6+/-402.8	431,1853,2013	yes	missense,missense,missense,missense,missense,missense,missense,missense	IRF3	NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5	45,58,58,58,58,58,58,58	1417,2801,2281	GG,GC,CC		31.5918,33.6966,43.3528	benign,benign,benign,benign,benign,benign,benign,benign	432/453,392/393,300/301,281/282,281/282,154/155,154/155,427/428	50162909	5635,7363	2202	4297	6499	SO:0001583	missense	3661	exon8			GCTCAGCTCTCCC		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1280G>C	19.37:g.50162909C>G	ENSP00000469113:p.Ser427Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_001197122	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	CCDS12775.1	971	0.44459706959706957	355	0.7215447154471545	153	0.42265193370165743	220	0.38461538461538464	243	0.32058047493403696	G	0.062	-1.221020	0.01530	0.663034	0.315918	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.96554	-4.05;-4.05;-3.94	4.25	-1.13	0.09775	SMAD/FHA domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.40695	P	0.017568999999999946	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31779	-0.9931	8	0.02654	T	1	.	4.4658	0.11689	0.3207:0.3403:0.3389:0.0	rs7251;rs17713;rs3170560;rs12976242;rs17856307;rs59032938;rs7251	427;300	Q14653;Q5FBY1	IRF3_HUMAN;.	T	427;427;300	ENSP00000366344:S427T;ENSP00000310127:S427T;ENSP00000366339:S300T	ENSP00000310127:S427T	S	-	2	0	IRF3	54854721	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.481000	0.06552	-0.168000	0.10853	-0.225000	0.12378	AGC	C|0.546;G|0.454	0.454	strong		0.587	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		G	50162909	C	G	50162909	3	3	22	1	0	0	0	0	1	0	0	0	7831	797	28	4	7	4	IRF3	19	50162909	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4929	50162909	8966074	10097	15205										
TSKS	60385	hgsc.bcm.edu	37	chr19	50248556	50248556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccactggcctaggaagcCgtcgaccctgccgcccaggc	11	19	0	0	rs34082111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50248556C>T	ENST00000246801.3	-	7	1172	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	TSKS_ENST00000358830.3_Missense_Mutation_p.G164S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	364					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCTAGGAAGCCGTCGACCCTG	0.706													C|||	54	0.0107827	0.0401	0.0014	5008	,	,		13851	0.0		0.0	False		,,,				2504	0.0				p.G364S		Atlas-SNP	.											.	TSKS	97	.	0			c.G1090A						PASS	.	C	SER/GLY	120,4282		3,114,2084	23	23	23		1090	3.8	1	19	dbSNP_126	23	1,8595		0,1,4297	yes	missense	TSKS	NM_021733.1	56	3,115,6381	TT,TC,CC		0.0116,2.726,0.9309	probably-damaging	364/593	50248556	121,12877	2201	4298	6499	SO:0001583	missense	60385	exon7			GGAAGCCGTCGAC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1090G>A	19.37:g.50248556C>T	ENSP00000246801:p.Gly364Ser	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	61	38	0.622951	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	C	25.2	4.614167	0.87359	0.02726	1.16E-4	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.55588	0.51;0.51	4.89	3.84	0.44239	.	0.000000	0.53938	D	0.000058	T	0.14227	0.0344	L	0.29908	0.895	0.34627	D	0.719177	P	0.39964	0.697	B	0.32393	0.145	T	0.40403	-0.9565	10	0.35671	T	0.21	-19.1441	10.8376	0.46696	0.0:0.91:0.0:0.09	rs34082111	364	Q9UJT2	TSKS_HUMAN	S	364;164	ENSP00000246801:G364S;ENSP00000351691:G164S	ENSP00000246801:G364S	G	-	1	0	TSKS	54940368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.050000	0.41297	1.273000	0.44346	0.561000	0.74099	GGC	C|0.991;T|0.009	0.009	strong		0.706	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50248556	C	T	50248556	3	4	22	1	0	0	0	0	1	0	0	0	16623	652	23	1	708	1	TSKS	19	50248556	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85647	50248556	8880427	10098	15206										
TSKS	60385	hgsc.bcm.edu	37	chr19	50251701	50251701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgatggagtctttggcgCggaccaatccactgttgacc	13	10	1	2	rs199829146		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50251701C>T	ENST00000246801.3	-	3	507	c.425G>A	c.(424-426)cGc>cAc	p.R142H	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	142					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCTTTGGCGCGGACCAATCC	0.557																																					p.R142H		Atlas-SNP	.											TSKS,NS,carcinoma,+1,2	TSKS	97	2	0			c.G425A						PASS	.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	94	101		425	3.8	0.8	19		101	0,8600		0,0,4300	yes	missense	TSKS	NM_021733.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	142/593	50251701	1,13005	2203	4300	6503	SO:0001583	missense	60385	exon3			TTGGCGCGGACCA	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.425G>A	19.37:g.50251701C>T	ENSP00000246801:p.Arg142His	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	165	71	0.430303	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621834	0.46840	2.27E-4	0.0	ENSG00000126467	ENST00000246801	T	0.48522	0.81	4.85	3.82	0.43975	.	0.122950	0.34628	N	0.003810	T	0.35098	0.0920	L	0.29908	0.895	0.80722	D	1	B	0.20459	0.045	B	0.16722	0.016	T	0.23440	-1.0188	10	0.72032	D	0.01	-9.0121	10.2244	0.43216	0.0:0.9063:0.0:0.0937	.	142	Q9UJT2	TSKS_HUMAN	H	142	ENSP00000246801:R142H	ENSP00000246801:R142H	R	-	2	0	TSKS	54943513	0.829000	0.29322	0.834000	0.33040	0.990000	0.78478	1.653000	0.37323	1.274000	0.44362	0.462000	0.41574	CGC	.	.	weak		0.557	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50251701	C	T	50251701	3	4	22	1	0	0	0	0	1	0	0	0	16623	768	27	1	1389	1	TSKS	19	50251701	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3145	50251701	8877282	10099	15207										
PTOV1	53635	hgsc.bcm.edu	37	chr19	50358133	50358133	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatcatgcagctgatcccTcagcagctgctggtgagacc	11	13	2	3	rs75478119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50358133T>G	ENST00000601675.1	+	4	542	c.438T>G	c.(436-438)ccT>ccG	p.P146P	PTOV1_ENST00000221557.9_Silent_p.P114P|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000391842.1_Silent_p.P146P|PTOV1_ENST00000600603.1_Silent_p.P114P|PTOV1_ENST00000599732.1_Silent_p.P146P|PTOV1_ENST00000601638.1_Silent_p.P114P|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGCTGATCCCTCAGCAGCTGC	0.657													G|||	1800	0.359425	0.4123	0.2392	5008	,	,		10608	0.2877		0.3171	False		,,,				2504	0.4908				p.P146P		Atlas-SNP	.											PTOV1,NS,carcinoma,+1,1	PTOV1	41	1	0			c.T438G						PASS	.	G		1777,2629	611.4+/-391.8	361,1055,787	32	33	33		438	-2.8	1	19	dbSNP_131	33	2922,5676	653.3+/-401.0	499,1924,1876	no	coding-synonymous	PTOV1	NM_017432.3		860,2979,2663	GG,GT,TT		33.9846,40.3314,36.135		146/417	50358133	4699,8305	2203	4299	6502	SO:0001819	synonymous_variant	53635	exon4			GATCCCTCAGCAG	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.438T>G	19.37:g.50358133T>G		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_017432	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	CCDS12782.1																																																																																			T|0.654;G|0.346	0.346	strong		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		G	50358133	T	G	50358133	2	3	22	1	0	0	0	0	0	0	0	1	12769	1538	54	5		5	PTOV1	19	50358133	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	106432	50358133	8770850	10100	15208										
PTOV1	53635	hgsc.bcm.edu	37	chr19	50361874	50361874	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaccaaggacctggagacActgaagagcctgtgccggat	12	11	1	3	rs35389621	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50361874A>G	ENST00000601675.1	+	10	1109	c.1005A>G	c.(1003-1005)acA>acG	p.T335T	PTOV1_ENST00000221557.9_Silent_p.T303T|AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000391842.1_Silent_p.T335T|PTOV1_ENST00000600603.1_Silent_p.T303T|PTOV1_ENST00000599732.1_Silent_p.T335T|PTOV1_ENST00000601638.1_Silent_p.T303T|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCTGGAGACACTGAAGAGCC	0.667													A|||	48	0.00958466	0.034	0.0043	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.0				p.T335T		Atlas-SNP	.											.	PTOV1	41	.	0			c.A1005G						PASS	.	A		125,4277	87.3+/-125.9	2,121,2078	43	30	35		1005	-5.7	0.3	19	dbSNP_126	35	0,8598		0,0,4299	no	coding-synonymous	PTOV1	NM_017432.3		2,121,6377	GG,GA,AA		0.0,2.8396,0.9615		335/417	50361874	125,12875	2201	4299	6500	SO:0001819	synonymous_variant	53635	exon10			GGAGACACTGAAG	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1005A>G	19.37:g.50361874A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_017432	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	CCDS12782.1																																																																																			A|0.990;G|0.010	0.010	strong		0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		G	50361874	A	G	50361874	2	3	22	1	0	0	0	0	0	0	0	1	12769	146	6	2		2	PTOV1	19	50361874	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3741	50361874	8767109	10101	15209										
TBC1D17	79735	hgsc.bcm.edu	37	chr19	50386253	50386253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagccccagcctgcggcgCgaggcctggaagttcctcct	13	16	0	1	rs61741174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50386253C>T	ENST00000221543.5	+	9	1250	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TBC1D17_ENST00000535102.2_Silent_p.R284R	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	317	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCTGCGGCGCGAGGCCTGGA	0.637													C|||	49	0.00978435	0.0348	0.0043	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.0				p.R317R		Atlas-SNP	.											.	TBC1D17	39	.	0			c.C951T						PASS	.	C	,	146,4258		5,136,2061	31	32	32		852,951	-10.1	0	19	dbSNP_129	32	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	TBC1D17	NM_001168222.1,NM_024682.2	,	5,136,6357	TT,TC,CC		0.0,3.3152,1.1234	,	284/616,317/649	50386253	146,12850	2202	4296	6498	SO:0001819	synonymous_variant	79735	exon9			GCGGCGCGAGGCC	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.951C>T	19.37:g.50386253C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	113	62	0.548673	NM_024682	B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	CCDS12785.1																																																																																			C|0.989;T|0.011	0.011	strong		0.637	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		T	50386253	C	T	50386253	2	4	22	1	0	0	0	0	0	0	0	1	15603	755	27	1		1	TBC1D17	19	50386253	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24379	50386253	8742730	10102	15210										
IL4I1	259307	hgsc.bcm.edu	37	chr19	50393269	50393269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgccggcggctgtaccacAaagccaccctggctgtgctg	13	15	0	0	rs56359967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50393269A>G	ENST00000391826.2	-	8	1504	c.1362T>C	c.(1360-1362)ttT>ttC	p.F454F	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Silent_p.F476F|IL4I1_ENST00000341114.3_Silent_p.F476F	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	454						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCTGTACCACAAAGCCACCCT	0.667											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	659	0.131589	0.1566	0.1945	5008	,	,		15075	0.1885		0.0169	False		,,,				2504	0.1125				p.F476F		Atlas-SNP	.											.	IL4I1	50	.	0			c.T1428C						PASS	.	G	,	545,3703		28,489,1607	22	9	13		1362,1428	2.1	1	19	dbSNP_129	13	178,8150		4,170,3990	no	coding-synonymous,coding-synonymous	IL4I1	NM_152899.1,NM_172374.1	,	32,659,5597	GG,GA,AA		2.1374,12.8296,5.749	,	454/568,476/590	50393269	723,11853	2124	4164	6288	SO:0001819	synonymous_variant	259307	exon10			TACCACAAAGCCA	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1362T>C	19.37:g.50393269A>G		Somatic	37	0	0	969	WXS	Illumina HiSeq	Phase_I	47	16	0.340426	NM_172374	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	CCDS12787.1																																																																																			A|0.881;G|0.119	0.119	strong		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			G	50393269	A	G	50393269	2	3	22	1	0	0	0	0	0	0	0	1	7697	127	5	2		2	IL4I1	19	50393269	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7016	50393269	8735714	10103	15211										
IL4I1	259307	hgsc.bcm.edu	37	chr19	50393743	50393743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctcgatctgcacgtgcacAtcgtgcggtccctgggtcat	12	13	3	0	rs61740372	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50393743A>G	ENST00000391826.2	-	8	1030	c.888T>C	c.(886-888)gaT>gaC	p.D296D	IL4I1_ENST00000595948.1_Silent_p.D318D|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.D318D	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	296						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCACGTGCACATCGTGCGGTC	0.692											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	83	0.0165735	0.059	0.0072	5008	,	,		12580	0.0		0.0	False		,,,				2504	0.0				p.D318D		Atlas-SNP	.											.	IL4I1	50	.	0			c.T954C						PASS	.	A	,	242,4162	131.8+/-168.3	9,224,1969	28	27	27		888,954	-7.9	0	19	dbSNP_129	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL4I1	NM_152899.1,NM_172374.1	,	9,225,6268	GG,GA,AA		0.0116,5.495,1.8687	,	296/568,318/590	50393743	243,12761	2202	4300	6502	SO:0001819	synonymous_variant	259307	exon10			GTGCACATCGTGC	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.888T>C	19.37:g.50393743A>G		Somatic	63	0	0	969	WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_172374	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	CCDS12787.1																																																																																			A|0.982;G|0.018	0.018	strong		0.692	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			G	50393743	A	G	50393743	2	3	22	1	0	0	0	0	0	0	0	1	7697	214	8	2		2	IL4I1	19	50393743	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	474	50393743	8735240	10104	15212										
NUP62	23636	hgsc.bcm.edu	37	chr19	50412516	50412516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggcaacgtggcaggtgcCgtgggctgggctgaattccc	17	10	0	1	rs1984656	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50412516C>T	ENST00000596217.1	-	2	2436	c.549G>A	c.(547-549)acG>acA	p.T183T	NUP62_ENST00000352066.3_Silent_p.T183T|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Silent_p.T183T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Silent_p.T183T|NUP62_ENST00000422090.2_Silent_p.T183T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.T183T			P37198	NUP62_HUMAN	nucleoporin 62kDa	183	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCAGGTGCCGTGGGCTGGG	0.627													C|||	109	0.0217652	0.0613	0.0245	5008	,	,		14325	0.0		0.0099	False		,,,				2504	0.001				p.T183T		Atlas-SNP	.											.	NUP62	50	.	0			c.G549A						PASS	.	C	,,,,,	196,4210	122.5+/-159.9	13,170,2020	67	69	68		549,549,549,549,549,	-10.1	0	19	dbSNP_92	68	90,8510	51.5+/-111.7	2,86,4212	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	,,,,,	15,256,6232	TT,TC,CC		1.0465,4.4485,2.199	,,,,,	183/523,183/523,183/523,183/523,183/523,	50412516	286,12720	2203	4300	6503	SO:0001819	synonymous_variant	23636	exon3			AGGTGCCGTGGGC	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.549G>A	19.37:g.50412516C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	225	120	0.533333	NM_153719	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	CCDS12788.1																																																																																			C|0.978;T|0.022	0.022	strong		0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		T	50412516	C	T	50412516	2	4	22	1	0	0	0	0	0	0	0	1	10768	639	23	1		1	NUP62	19	50412516	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18773	50412516	8716467	10105	15213										
SIGLEC11	114132	hgsc.bcm.edu	37	chr19	50463670	50463670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtagacatcaggcttctTagtcagggctgggacagaga	14	7	3	2	rs77553517	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50463670T>G	ENST00000447370.2	-	3	559	c.469A>C	c.(469-471)Aag>Cag	p.K157Q	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.K157Q	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	157					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCAGGCTTCTTAGTCAGGGCT	0.607																																					p.K157Q		Atlas-SNP	.											.	SIGLEC11	70	.	0			c.A469C						PASS	.	G	GLN/LYS,GLN/LYS	840,2990		167,506,1242	35	54	48		469,469	-0.6	0	19	dbSNP_131	48	1503,7087		54,1395,2846	yes	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	53,53	221,1901,4088	GG,GT,TT		17.4971,21.9321,18.8647	benign,benign	157/603,157/699	50463670	2343,10077	1915	4295	6210	SO:0001583	missense	114132	exon3			GCTTCTTAGTCAG	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.469A>C	19.37:g.50463670T>G	ENSP00000412361:p.Lys157Gln	Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	73	71	0.972603	NM_052884		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	363	0.1662087912087912	102	0.2073170731707317	48	0.13259668508287292	112	0.1958041958041958	101	0.13324538258575197	G	0.021	-1.424972	0.01126	0.219321	0.174971	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.03124	4.04	3.28	-0.577	0.11727	Immunoglobulin-like fold (1);	0.404011	0.21813	N	0.068733	T	0.00012	0.0000	N	0.00036	-2.54	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38950	-0.9637	9	0.16420	T	0.52	.	1.9279	0.03321	0.1102:0.1707:0.3701:0.349	.	157;157	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	Q	157	ENSP00000412361:K157Q	ENSP00000412361:K157Q	K	-	1	0	SIGLEC11	55155482	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.174000	0.09839	-0.459000	0.07013	-0.217000	0.12591	AAG	T|0.840;G|0.160	0.160	strong		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		G	50463670	T	G	50463670	3	3	22	1	0	0	0	0	1	0	0	0	14307	1763	61	5	1663	5	SIGLEC11	19	50463670	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	51154	50463670	8665313	10106	15214										
MYH14	79784	hgsc.bcm.edu	37	chr19	50720949	50720949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagaagccattgtggagatGtaccggggcaagaagcgcca	14	9	0	3	rs34773557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50720949G>A	ENST00000596571.1	+	2	483	c.483G>A	c.(481-483)atG>atA	p.M161I	MYH14_ENST00000262269.8_Missense_Mutation_p.M161I|MYH14_ENST00000598205.1_Missense_Mutation_p.M161I|MYH14_ENST00000601313.1_Missense_Mutation_p.M161I|MYH14_ENST00000425460.1_Missense_Mutation_p.M161I|MYH14_ENST00000440075.2_Missense_Mutation_p.M161I|MYH14_ENST00000376970.2_Missense_Mutation_p.M161I			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	161	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTGTGGAGATGTACCGGGGCA	0.607													G|||	56	0.0111821	0.028	0.013	5008	,	,		18213	0.0		0.0099	False		,,,				2504	0.0				p.M161I		Atlas-SNP	.											.	MYH14	261	.	0			c.G483A						PASS	.	G	ILE/MET,ILE/MET,ILE/MET	119,4229		1,117,2056	89	98	95		483,483,483	4.6	1	19	dbSNP_126	95	66,8488		1,64,4212	yes	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	10,10,10	2,181,6268	AA,AG,GG		0.7716,2.7369,1.4339	probably-damaging,probably-damaging,probably-damaging	161/2004,161/2037,161/1996	50720949	185,12717	2174	4277	6451	SO:0001583	missense	79784	exon3			GGAGATGTACCGG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.483G>A	19.37:g.50720949G>A	ENSP00000472819:p.Met161Ile	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	112	47	0.419643	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	29	0.013278388278388278	16	0.032520325203252036	5	0.013812154696132596	0	0.0	8	0.010554089709762533	G	17.81	3.481669	0.63849	0.027369	0.007716	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.63	4.63	0.57726	Myosin head, motor domain (2);	.	.	.	.	T	0.79907	0.4527	M	0.70595	2.14	0.54753	D	0.999988	P;P;P	0.51791	0.948;0.755;0.711	P;B;B	0.53146	0.719;0.378;0.347	D	0.85829	0.1390	9	0.72032	D	0.01	.	15.3635	0.74499	0.0:0.0:1.0:0.0	rs34773557	161;161;161	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	I	161	ENSP00000406273:M161I;ENSP00000366169:M161I;ENSP00000407879:M161I;ENSP00000262269:M161I	ENSP00000262269:M161I	M	+	3	0	MYH14	55412761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.482000	0.73613	2.579000	0.87056	0.655000	0.94253	ATG	G|0.987;A|0.013	0.013	strong		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50720949	G	A	50720949	3	1	22	1	0	0	0	0	1	0	0	0	10033	1377	48	2	489	2	MYH14	19	50720949	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	257279	50720949	8408034	10107	15215										
MYH14	79784	hgsc.bcm.edu	37	chr19	50726570	50726570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtacctcgcccacgtggcGtcgtctccaaagggcaggaa	12	14	1	0	rs4801822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50726570G>A	ENST00000596571.1	+	4	657	c.657G>A	c.(655-657)gcG>gcA	p.A219A	MYH14_ENST00000440075.2_Silent_p.A219A|MYH14_ENST00000262269.8_Silent_p.A219A|MYH14_ENST00000425460.1_Silent_p.A219A|MYH14_ENST00000376970.2_Silent_p.A219A|MYH14_ENST00000601313.1_Silent_p.A219A|MYH14_ENST00000598205.1_Silent_p.A219A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	219	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A219A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCACGTGGCGTCGTCTCCAA	0.632													A|||	2368	0.472843	0.1573	0.4942	5008	,	,		17994	0.5804		0.6123	False		,,,				2504	0.6299				p.A219A		Atlas-SNP	.											MYH14_ENST00000262269,NS,carcinoma,0,2	MYH14	261	2	2	Substitution - coding silent(2)	prostate(2)	c.G657A						PASS	.	A	,,	987,3349		132,723,1313	44	51	49		657,657,657	-6.1	0.1	19	dbSNP_111	49	5380,3192		1712,1956,618	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	1844,2679,1931	AA,AG,GG		37.2375,22.7629,49.326	,,	219/2004,219/2037,219/1996	50726570	6367,6541	2168	4286	6454	SO:0001819	synonymous_variant	79784	exon5			CGTGGCGTCGTCT	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.657G>A	19.37:g.50726570G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	145	79	0.544828	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			G|0.507;A|0.494	0.494	strong		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50726570	G	A	50726570	2	1	22	1	0	0	0	0	0	0	0	1	10033	1132	40	1		1	MYH14	19	50726570	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5621	50726570	8402413	10108	15216										
MYH14	79784	hgsc.bcm.edu	37	chr19	50760716	50760716	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaaccccagttttgtccgCtgcattgtccccaaccacga	6	17	0	0	rs378811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50760716C>G	ENST00000596571.1	+	15	2082	c.2082C>G	c.(2080-2082)cgC>cgG	p.R694R	MYH14_ENST00000440075.2_Silent_p.R735R|MYH14_ENST00000262269.8_Silent_p.R735R|MYH14_ENST00000425460.1_Silent_p.R702R|MYH14_ENST00000376970.2_Silent_p.R727R|MYH14_ENST00000601313.1_Silent_p.R735R|MYH14_ENST00000598205.1_Silent_p.R702R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	694	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTTTTGTCCGCTGCATTGTCC	0.612													C|||	1792	0.357827	0.3374	0.3026	5008	,	,		19529	0.374		0.4026	False		,,,				2504	0.362				p.R735R		Atlas-SNP	.											MYH14_ENST00000262269,NS,carcinoma,0,4	MYH14	261	4	0			c.C2205G						PASS	.	C	,,	1336,2946		217,902,1022	31	34	33		2106,2205,2082	4.5	1	19	dbSNP_80	33	3603,4903		771,2061,1421	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	988,2963,2443	GG,GC,CC		42.3583,31.2004,38.6221	,,	702/2004,735/2037,694/1996	50760716	4939,7849	2141	4253	6394	SO:0001819	synonymous_variant	79784	exon18			TGTCCGCTGCATT	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2082C>G	19.37:g.50760716C>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	115	50	0.434783	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			C|0.617;G|0.383	0.383	strong		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50760716	C	G	50760716	2	3	22	1	0	0	0	0	0	0	0	1	10033	784	28	4		4	MYH14	19	50760716	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34146	50760716	8368267	10109	15217										
MYH14	79784	hgsc.bcm.edu	37	chr19	50810405	50810405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggagggtggctgaccagctCcgggaccaggtaagcagctg	17	11	0	1	rs201839634	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50810405C>T	ENST00000596571.1	+	38	5655	c.5655C>T	c.(5653-5655)ctC>ctT	p.L1885L	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000440075.2_Silent_p.L1926L|MYH14_ENST00000262269.8_Silent_p.L1926L|MYH14_ENST00000425460.1_Silent_p.L1893L|MYH14_ENST00000376970.2_Silent_p.L1918L|MYH14_ENST00000601313.1_Silent_p.L1926L|MYH14_ENST00000598205.1_Silent_p.L1893L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1885					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGACCAGCTCCGGGACCAGG	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20297	0.0		0.0	False		,,,				2504	0.0				p.L1926L		Atlas-SNP	.											.	MYH14	261	.	0			c.C5778T						PASS	.	C	,,	2,3712		0,2,1855	39	49	46		5679,5778,5655	2	1	19		46	0,7216		0,0,3608	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	0,2,5463	TT,TC,CC		0.0,0.0539,0.0183	,,	1893/2004,1926/2037,1885/1996	50810405	2,10928	1857	3608	5465	SO:0001819	synonymous_variant	79784	exon41			CCAGCTCCGGGAC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5655C>T	19.37:g.50810405C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	40	17	0.425	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			C|0.999;T|0.001	0.001	strong		0.592	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50810405	C	T	50810405	2	4	22	1	0	0	0	0	0	0	0	1	10033	842	30	2		2	MYH14	19	50810405	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49689	50810405	8318578	10110	15218										
POLD1	5424	hgsc.bcm.edu	37	chr19	50905762	50905762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactggctggagctcccagcTgggaaatacgccctgaggct	13	12	0	1	rs1143666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50905762T>C	ENST00000440232.2	+	7	863	c.810T>C	c.(808-810)gcT>gcC	p.A270A	POLD1_ENST00000599857.1_Silent_p.A270A|POLD1_ENST00000595904.1_Silent_p.A270A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	270					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTCCCAGCTGGGAAATACG	0.672								DNA polymerases (catalytic subunits)					C|||	693	0.138379	0.4418	0.0605	5008	,	,		14079	0.006		0.004	False		,,,				2504	0.0583				p.A270A		Atlas-SNP	.											.	POLD1	174	.	0			c.T810C						PASS	.	C		1617,2777		305,1007,885	20	20	20		810	-5.7	0	19	dbSNP_86	20	22,8574		1,20,4277	no	coding-synonymous	POLD1	NM_002691.2		306,1027,5162	CC,CT,TT		0.2559,36.8002,12.6174		270/1108	50905762	1639,11351	2197	4298	6495	SO:0001819	synonymous_variant	5424	exon7			CCCAGCTGGGAAA		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.810T>C	19.37:g.50905762T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	144	67	0.465278	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			T|0.880;C|0.120	0.120	strong		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			C	50905762	T	C	50905762	2	2	22	1	0	0	0	0	0	0	0	1	12190	1567	55	3		3	POLD1	19	50905762	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95357	50905762	8223221	10111	15219										
POLD1	5424	hgsc.bcm.edu	37	chr19	50916772	50916772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaatggctacagcaccagTgccaaggtcgggggctgccc	15	12	0	1	rs1274607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:50916772T>C	ENST00000440232.2	+	18	2297	c.2244T>C	c.(2242-2244)agT>agC	p.S748S	POLD1_ENST00000599857.1_Silent_p.S748S|POLD1_ENST00000595904.1_Silent_p.S774S|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	748					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACAGCACCAGTGCCAAGGTCG	0.652								DNA polymerases (catalytic subunits)					c|||	593	0.118411	0.3722	0.0562	5008	,	,		16316	0.002		0.003	False		,,,				2504	0.0583				p.S748S		Atlas-SNP	.											.	POLD1	174	.	0			c.T2244C						PASS	.			1403,3003	659.8+/-400.6	223,957,1023	56	45	49		2244	-8.6	0	19	dbSNP_87	49	18,8582	794.9+/-407.5	0,18,4282	no	coding-synonymous	POLD1	NM_002691.2		223,975,5305	CC,CT,TT		0.2093,31.8429,10.9257		748/1108	50916772	1421,11585	2203	4300	6503	SO:0001819	synonymous_variant	5424	exon18			CACCAGTGCCAAG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2244T>C	19.37:g.50916772T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	56	25	0.446429	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			T|0.877;C|0.123	0.123	strong		0.652	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			C	50916772	T	C	50916772	2	2	22	1	0	0	0	0	0	0	0	1	12190	1693	59	2		2	POLD1	19	50916772	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11010	50916772	8212211	10112	15220										
ASPDH	554235	hgsc.bcm.edu	37	chr19	51017064	51017064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaccacgcccaccctccacGggcccctgtcggccatggcc	9	23	0	0	rs7248272	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51017064G>C	ENST00000389208.4	-	1	78	c.17C>G	c.(16-18)cCg>cGg	p.P6R	ASPDH_ENST00000597030.1_Intron|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Intron|JOSD2_ENST00000601423.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	6					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CACCCTCCACGGGCCCCTGTC	0.682													G|||	291	0.058107	0.0855	0.0317	5008	,	,		13839	0.121		0.001	False		,,,				2504	0.0337				p.P6R		Atlas-SNP	.											.	ASPDH	22	.	0			c.C17G						PASS	.						28	36	33					19																	51017064		692	1591	2283	SO:0001583	missense	554235	exon1			CTCCACGGGCCCC		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.17C>G	19.37:g.51017064G>C	ENSP00000373860:p.Pro6Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	132	66	0.5	NM_001114598	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	145	0.06639194139194139	56	0.11382113821138211	13	0.03591160220994475	75	0.13111888111888112	1	0.0013192612137203166	G	11.23	1.577637	0.28180	.	.	ENSG00000204653	ENST00000389208	T	0.46063	0.88	3.23	2.19	0.27852	NAD(P)-binding domain (1);	0.461581	0.18443	U	0.141099	T	0.00241	0.0007	L	0.34521	1.04	0.80722	P	0.0	P	0.39157	0.662	B	0.31751	0.135	T	0.05162	-1.0902	9	0.20046	T	0.44	.	5.6409	0.17562	0.1517:0.0:0.8483:0.0	rs7248272	6	A6ND91	ASPD_HUMAN	R	6	ENSP00000373860:P6R	ENSP00000373860:P6R	P	-	2	0	ASPDH	55708876	0.537000	0.26386	0.059000	0.19551	0.116000	0.19942	0.837000	0.27558	1.829000	0.53265	0.462000	0.41574	CCG	G|0.930;C|0.070	0.070	strong		0.682	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51017064	G	C	51017064	3	2	22	1	0	0	0	0	1	0	0	0	1051	1116	39	4	862	4	ASPDH	19	51017064	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100292	51017064	8111919	10113	15221										
SHANK1	50944	hgsc.bcm.edu	37	chr19	51172526	51172526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtgctaggtaaggtctGtcatcttctgccgcacctgg	15	10	4	0	rs41275782	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51172526G>C	ENST00000293441.1	-	22	2709	c.2691C>G	c.(2689-2691)gaC>gaG	p.D897E	SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391814.1_Missense_Mutation_p.D905E|SHANK1_ENST00000359082.3_Missense_Mutation_p.D888E|SHANK1_ENST00000391813.1_Missense_Mutation_p.D284E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	897					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTAAGGTCTGTCATCTTCTG	0.622											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	409	0.0816693	0.1051	0.0375	5008	,	,		11380	0.1052		0.0457	False		,,,				2504	0.0941				p.D897E		Atlas-SNP	.											.	SHANK1	210	.	0			c.C2691G						PASS	.	G	GLU/ASP	505,3897		41,423,1737	20	17	18		2691	-2.5	1	19	dbSNP_127	18	318,8280		7,304,3988	yes	missense	SHANK1	NM_016148.2	45	48,727,5725	CC,CG,GG		3.6985,11.4721,6.3308	benign	897/2162	51172526	823,12177	2201	4299	6500	SO:0001583	missense	50944	exon22			AGGTCTGTCATCT	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2691C>G	19.37:g.51172526G>C	ENSP00000293441:p.Asp897Glu	Somatic	109	0	0	975	WXS	Illumina HiSeq	Phase_I	100	43	0.43	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	162	0.07417582417582418	62	0.12601626016260162	17	0.04696132596685083	53	0.09265734265734266	30	0.0395778364116095	G	14.51	2.558043	0.45590	0.114721	0.036985	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.32753	1.53;1.94;1.51;1.44	3.77	-2.55	0.06288	.	0.391477	0.21289	U	0.077011	T	0.00073	0.0002	N	0.01197	-0.965	0.42303	P	0.007816000000000045	B;B	0.26195	0.128;0.144	B;B	0.36504	0.043;0.226	T	0.19811	-1.0294	9	0.06625	T	0.88	.	4.6593	0.12634	0.4079:0.2917:0.3005:0.0	rs41275782	897;284	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	897;284;888;905	ENSP00000293441:D897E;ENSP00000375689:D284E;ENSP00000351984:D888E;ENSP00000375690:D905E	ENSP00000293441:D897E	D	-	3	2	SHANK1	55864338	0.015000	0.18098	0.961000	0.40146	0.980000	0.70556	-1.393000	0.02521	-0.641000	0.05487	0.549000	0.68633	GAC	G|0.936;C|0.064	0.064	strong		0.622	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		C	51172526	G	C	51172526	3	2	22	1	0	0	0	0	1	0	0	0	14264	1368	48	4	3802	4	SHANK1	19	51172526	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155462	51172526	7956457	10114	15222										
KLK4	9622	hgsc.bcm.edu	37	chr19	51412668	51412668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctaccagagacgagcgAtcctgagggcggagtcaggg	17	10	1	2	rs1654551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51412668A>C	ENST00000324041.1	-	2	63	c.64T>G	c.(64-66)Tcg>Gcg	p.S22A	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	22			S -> A (in dbSNP:rs1654551). {ECO:0000269|PubMed:15235027}.		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GAGACGAGCGATCCTGAGGGC	0.637													A|||	644	0.128594	0.2678	0.0605	5008	,	,		11795	0.0873		0.0736	False		,,,				2504	0.0879				p.S22A		Atlas-SNP	.											KLK4,colon,carcinoma,+2,2	KLK4	46	2	0			c.T64G						PASS	.	A	ALA/SER	933,3473	342.8+/-307.3	106,721,1376	86	96	92		64	-7	0	19	dbSNP_89	92	616,7984	157.5+/-211.1	24,568,3708	no	missense	KLK4	NM_004917.3	99	130,1289,5084	CC,CA,AA		7.1628,21.1757,11.9099	benign	22/255	51412668	1549,11457	2203	4300	6503	SO:0001583	missense	9622	exon2			CGAGCGATCCTGA	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.64T>G	19.37:g.51412668A>C	ENSP00000326159:p.Ser22Ala	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	131	52	0.396947	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	CCDS12809.1	270	0.12362637362637363	129	0.2621951219512195	24	0.06629834254143646	59	0.10314685314685315	58	0.07651715039577836	a	4.871	0.161905	0.09287	0.211757	0.071628	ENSG00000167749	ENST00000324041	D	0.92647	-3.08	3.63	-7.01	0.01594	.	1.425490	0.05046	N	0.477318	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45934	-0.9227	9	0.02654	T	1	.	9.8336	0.40956	0.2057:0.6849:0.1094:0.0	rs1654551	22	Q9Y5K2	KLK4_HUMAN	A	22	ENSP00000326159:S22A	ENSP00000326159:S22A	S	-	1	0	KLK4	56104480	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.150000	0.01290	-1.157000	0.02815	-0.488000	0.04728	TCG	A|0.875;C|0.125	0.125	strong		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		C	51412668	A	C	51412668	3	2	22	1	0	0	0	0	1	0	0	0	8406	333	12	5	716	5	KLK4	19	51412668	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	240142	51412668	7716315	10115	15223										
KLK6	5653	hgsc.bcm.edu	37	chr19	51465096	51465096	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacactcctcacgggacacCaggtggatgtatgcacactg	10	13	2	0	rs1701950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51465096C>G	ENST00000376851.3	-	5	925	c.486G>C	c.(484-486)ctG>ctC	p.L162L	KLK6_ENST00000456750.2_Silent_p.L55L|KLK6_ENST00000310157.2_Silent_p.L162L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Silent_p.L55L|KLK6_ENST00000594641.1_Silent_p.L162L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACGGGACACCAGGTGGATGT	0.577													C|||	408	0.0814696	0.1853	0.049	5008	,	,		19122	0.0		0.1024	False		,,,				2504	0.0266				p.L162L		Atlas-SNP	.											.	KLK6	35	.	0			c.G486C						PASS	.		,,	739,3667		59,621,1523	156	120	132		486,165,486	2	1	19	dbSNP_89	132	883,7717		45,793,3462	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK6	NM_001012964.1,NM_001012965.1,NM_002774.3	,,	104,1414,4985	GG,GC,CC		10.2674,16.7726,12.4712	,,	162/245,55/138,162/245	51465096	1622,11384	2203	4300	6503	SO:0001819	synonymous_variant	5653	exon5			GGACACCAGGTGG	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.486G>C	19.37:g.51465096C>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_001012964	A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	CCDS12811.1																																																																																			C|0.883;G|0.117	0.117	strong		0.577	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		G	51465096	C	G	51465096	2	3	22	1	0	0	0	0	0	0	0	1	8408	581	21	4		4	KLK6	19	51465096	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	52428	51465096	7663887	10116	15224										
KLK7	5650	hgsc.bcm.edu	37	chr19	51480840	51480840	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccacttggtgaacttgcaCacttgagtgtagactcctgg	10	10	0	3	rs1654528	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51480840C>G	ENST00000391807.1	-	6	815	c.714G>C	c.(712-714)gtG>gtC	p.V238V	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Silent_p.V166V|KLK7_ENST00000595820.1_Silent_p.V238V|KLK7_ENST00000336317.4_Silent_p.V125V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGAACTTGCACACTTGAGTGT	0.507													G|||	580	0.115815	0.3313	0.0648	5008	,	,		19553	0.0		0.0487	False		,,,				2504	0.0491				p.V238V		Atlas-SNP	.											.	KLK7	40	.	0			c.G714C						PASS	.		,,	1126,3280	717.1+/-408.7	133,860,1210	200	172	181		498,714,714	0.8	1	19	dbSNP_89	181	504,8096	796.9+/-407.5	15,474,3811	yes	coding-synonymous,coding-synonymous,coding-synonymous	KLK7	NM_001207053.1,NM_005046.3,NM_139277.2	,,	148,1334,5021	GG,GC,CC		5.8605,25.5561,12.5327	,,	166/182,238/254,238/254	51480840	1630,11376	2203	4300	6503	SO:0001819	synonymous_variant	5650	exon6			CTTGCACACTTGA	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.714G>C	19.37:g.51480840C>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	152	73	0.480263	NM_139277	A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	CCDS12812.1																																																																																			C|0.884;G|0.116	0.116	strong		0.507	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		G	51480840	C	G	51480840	2	3	22	1	0	0	0	0	0	0	0	1	8409	465	17	4		4	KLK7	19	51480840	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15744	51480840	7648143	10117	15225										
KLK8	11202	hgsc.bcm.edu	37	chr19	51504415	51504415	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggccgcacgaggtcggggGcgtcccatggtgaggtctgg	19	10	1	1	rs34542531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51504415G>C	ENST00000600767.1	-	3	498	c.9C>G	c.(7-9)cgC>cgG	p.R3R	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Silent_p.R3R|KLK8_ENST00000347619.4_Silent_p.R3R|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000320838.5_Silent_p.R3R|KLK8_ENST00000391806.2_Silent_p.R3R|KLK8_ENST00000593490.1_Silent_p.R3R|KLK9_ENST00000376832.4_3'UTR|KLK9_ENST00000250366.6_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	3					cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GAGGTCGGGGGCGTCCCATGG	0.662													G|||	116	0.0231629	0.0348	0.0259	5008	,	,		15317	0.002		0.0219	False		,,,				2504	0.0286				p.R3R		Atlas-SNP	.											.	KLK8	46	.	0			c.C9G						PASS	.	G	,,,	143,4263	88.7+/-127.4	2,139,2062	34	29	31		9,9,9,9	-0.7	0	19	dbSNP_126	31	133,8467	57.5+/-118.9	0,133,4167	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	,,,	2,272,6229	CC,CG,GG		1.5465,3.2456,2.1221	,,,	3/261,3/306,3/120,3/33	51504415	276,12730	2203	4300	6503	SO:0001819	synonymous_variant	11202	exon2			TCGGGGGCGTCCC	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.9C>G	19.37:g.51504415G>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_144505	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	CCDS12813.1																																																																																			G|0.975;C|0.025	0.025	strong		0.662	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		C	51504415	G	C	51504415	2	2	22	1	0	0	0	0	0	0	0	1	8410	1190	42	4		4	KLK8	19	51504415	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23575	51504415	7624568	10118	15226										
KLK14	43847	hgsc.bcm.edu	37	chr19	51582090	51582090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctgacaagagtccttcccGccctggggaactcctgcaca	9	16	0	2	rs79507858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51582090G>A	ENST00000156499.2	-	6	851	c.633C>T	c.(631-633)ggC>ggT	p.G211G	KLK14_ENST00000391802.1_Silent_p.G211G			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		AGTCCTTCCCGCCCTGGGGAA	0.542													g|||	153	0.0305511	0.1089	0.0115	5008	,	,		18957	0.0		0.001	False		,,,				2504	0.0				p.G211G	GBM(117;2161 2172 2448 22911)	Atlas-SNP	.											.	KLK14	49	.	0			c.C633T						PASS	.			376,3538		15,346,1596	234	237	236		633	-9	0.2	19	dbSNP_131	236	7,8311		0,7,4152	no	coding-synonymous	KLK14	NM_022046.4		15,353,5748	AA,AG,GG		0.0842,9.6065,3.1311		211/268	51582090	383,11849	1957	4159	6116	SO:0001819	synonymous_variant	43847	exon6			CTTCCCGCCCTGG	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.633C>T	19.37:g.51582090G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_022046	A7UNK5|Q1RMZ2|Q6B089	Silent	SNP	ENST00000156499.2	37	CCDS12823.2																																																																																			G|0.981;A|0.019	0.019	strong		0.542	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		A	51582090	G	A	51582090	2	1	22	1	0	0	0	0	0	0	0	1	8402	1074	38	1		1	KLK14	19	51582090	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	77675	51582090	7546893	10119	15227										
SIGLEC9	27180	hgsc.bcm.edu	37	chr19	51628395	51628395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctggatttaccctggccCagtagttcatggctactggt	12	10	1	0	rs144549146		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51628395C>T	ENST00000250360.3	+	1	231	c.164C>T	c.(163-165)cCa>cTa	p.P55L	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.P55L	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	55	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TACCCTGGCCCAGTAGTTCAT	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16792	0.0		0.0	False		,,,				2504	0.0				p.P55L		Atlas-SNP	.											.	SIGLEC9	85	.	0			c.C164T						PASS	.	C	LEU/PRO,LEU/PRO	3,4403		0,3,2200	120	87	98		164,164	0.7	0	19	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	98,98	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging	55/480,55/464	51628395	3,13003	2203	4300	6503	SO:0001583	missense	27180	exon1			CTGGCCCAGTAGT	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.164C>T	19.37:g.51628395C>T	ENSP00000250360:p.Pro55Leu	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	227	108	0.475771	NM_001198558	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794120	0.31777	6.81E-4	0.0	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.54071	0.59;0.59	2.88	0.675	0.17952	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.876730	0.00810	N	0.001498	T	0.62344	0.2420	M	0.80183	2.485	0.09310	N	1	P	0.41947	0.766	P	0.46208	0.507	T	0.41466	-0.9507	10	0.62326	D	0.03	.	4.9958	0.14237	0.0:0.6975:0.0:0.3025	.	55	Q9Y336	SIGL9_HUMAN	L	55	ENSP00000413861:P55L;ENSP00000250360:P55L	ENSP00000250360:P55L	P	+	2	0	SIGLEC9	56320207	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.035000	0.12205	0.010000	0.14839	0.397000	0.26171	CCA	C|1.000;T|0.000	0.000	strong		0.602	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		T	51628395	C	T	51628395	3	4	22	1	0	0	0	0	1	0	0	0	14315	594	21	2	166	2	SIGLEC9	19	51628395	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	46305	51628395	7500588	10120	15228										
SIGLEC9	27180	hgsc.bcm.edu	37	chr19	51628622	51628622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtataaaatggaattatAaacatcaccggctctctgtg	8	7	2	0	rs16988910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51628622A>C	ENST00000250360.3	+	1	458	c.391A>C	c.(391-393)Aaa>Caa	p.K131Q	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.K131Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	131	Ig-like V-type.		K -> Q (in dbSNP:rs16988910).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATGGAATTATAAACATCACCG	0.498													.|||	482	0.096246	0.3495	0.0288	5008	,	,		19570	0.0		0.0	False		,,,				2504	0.0				p.K131Q		Atlas-SNP	.											.	SIGLEC9	85	.	0			c.A391C						PASS	.	A	GLN/LYS,GLN/LYS	1306,3100		197,912,1094	54	54	54		391,391	-6.1	0	19	dbSNP_123	54	9,8591		0,9,4291	yes	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	53,53	197,921,5385	CC,CA,AA		0.1047,29.6414,10.1107	benign,benign	131/480,131/464	51628622	1315,11691	2203	4300	6503	SO:0001583	missense	27180	exon1			AATTATAAACATC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.391A>C	19.37:g.51628622A>C	ENSP00000250360:p.Lys131Gln	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_001198558	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	177	0.08104395604395605	167	0.3394308943089431	10	0.027624309392265192	0	0.0	0	0.0	.	2.109	-0.404270	0.04832	0.296414	0.001047	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.45668	0.89;0.89	3.03	-6.06	0.02165	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.634600	0.01116	N	0.005689	T	0.00012	0.0000	L	0.35542	1.07	0.80722	P	0.0	B	0.13145	0.007	B	0.11329	0.006	T	0.28138	-1.0053	9	0.19147	T	0.46	.	0.854	0.01178	0.2909:0.3232:0.227:0.1589	rs16988910;rs57111846;rs16988910	131	Q9Y336	SIGL9_HUMAN	Q	131	ENSP00000413861:K131Q;ENSP00000250360:K131Q	ENSP00000250360:K131Q	K	+	1	0	SIGLEC9	56320434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.430000	0.02434	-1.179000	0.02737	-0.476000	0.04901	AAA	A|0.895;C|0.105	0.105	strong		0.498	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		C	51628622	A	C	51628622	3	2	22	1	0	0	0	0	1	0	0	0	14315	363	13	5	393	5	SIGLEC9	19	51628622	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	227	51628622	7500361	10121	15229										
SIGLEC9	27180	hgsc.bcm.edu	37	chr19	51630485	51630485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcacctgagggatgcagCtgaattcacctgcagagctc	13	11	1	3	rs273688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51630485C>A	ENST00000250360.3	+	4	1014	c.947C>A	c.(946-948)gCt>gAt	p.A316D	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A316D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGGATGCAGCTGAATTCACC	0.637													.|||	529	0.105631	0.3805	0.0331	5008	,	,		20814	0.0		0.0	False		,,,				2504	0.0031				p.A316D		Atlas-SNP	.											SIGLEC9,NS,carcinoma,+1,1	SIGLEC9	85	1	0			c.C947A						PASS	.	A	ASP/ALA,ASP/ALA	1473,2933		252,969,982	41	40	40		947,947	0	0	19	dbSNP_79	40	11,8589		0,11,4289	no	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	126,126	252,980,5271	AA,AC,CC		0.1279,33.4317,11.4101	benign,benign	316/480,316/464	51630485	1484,11522	2203	4300	6503	SO:0001583	missense	27180	exon4			ATGCAGCTGAATT	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.947C>A	19.37:g.51630485C>A	ENSP00000250360:p.Ala316Asp	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	105	58	0.552381	NM_001198558	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	196	0.08974358974358974	183	0.3719512195121951	13	0.03591160220994475	0	0.0	0	0.0	.	6.207	0.406368	0.11754	0.334317	0.001279	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12255	2.7;2.7	2.3	-0.0215	0.13951	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.635768	0.12920	N	0.428257	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.16166	0.016	B	0.12156	0.007	T	0.46665	-0.9175	9	0.72032	D	0.01	.	5.4292	0.16444	0.1485:0.2067:0.6448:0.0	rs273688;rs60086561;rs273688	316	Q9Y336	SIGL9_HUMAN	D	316	ENSP00000413861:A316D;ENSP00000250360:A316D	ENSP00000250360:A316D	A	+	2	0	SIGLEC9	56322297	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.516000	0.22817	-0.622000	0.05626	-3.343000	0.00043	GCT	C|0.895;A|0.105	0.105	strong		0.637	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		A	51630485	C	A	51630485	3	1	22	1	0	0	0	0	1	0	0	0	14315	797	28	4	961	4	SIGLEC9	19	51630485	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1863	51630485	7498498	10122	15230										
CD33	945	hgsc.bcm.edu	37	chr19	51729594	51729594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaacccaacaactggtatcTttccaggagatggctcaggt	10	10	2	2	rs11882250|rs201473304	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51729594T>C	ENST00000262262.4	+	4	748	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L	CD33_ENST00000421133.2_Missense_Mutation_p.F116L|CD33_ENST00000391796.3_Missense_Mutation_p.F243L|CD33_ENST00000436584.2_Missense_Mutation_p.F116L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	243			F -> L (in dbSNP:rs11882250).		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AACTGGTATCTTTCCAGGAGA	0.502													t|||	186	0.0371406	0.1271	0.0245	5008	,	,		18721	0.0		0.001	False		,,,				2504	0.0				p.F243L		Atlas-SNP	.											.	CD33	55	.	0			c.T727C						PASS	.	T	LEU/PHE,LEU/PHE,LEU/PHE	478,3928		26,426,1751	92	86	88		346,727,727	2.9	0	19	dbSNP_120	88	4,8596		0,4,4296	yes	missense,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	22,22,22	26,430,6047	CC,CT,TT		0.0465,10.8488,3.706	benign,benign,benign	116/238,243/311,243/365	51729594	482,12524	2203	4300	6503	SO:0001583	missense	945	exon4			GGTATCTTTCCAG	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.727T>C	19.37:g.51729594T>C	ENSP00000262262:p.Phe243Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	64	0.029304029304029304	51	0.10365853658536585	12	0.03314917127071823	0	0.0	1	0.0013192612137203166	.	9.409	1.079972	0.20309	0.108488	4.65E-4	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.34667	1.35;2.53;1.55;2.36	2.88	2.88	0.33553	.	.	.	.	.	T	0.00496	0.0016	L	0.40543	1.245	0.80722	P	0.0	B;B;B	0.26975	0.066;0.165;0.048	B;B;B	0.23852	0.028;0.049;0.023	T	0.06935	-1.0799	8	0.33141	T	0.24	.	7.4754	0.27374	0.0:0.0:0.0:1.0	rs11882250;rs52835930;rs56510285;rs57266763;rs11882250	116;243;243	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	116;243;116;243	ENSP00000403331:F116L;ENSP00000262262:F243L;ENSP00000410126:F116L;ENSP00000375673:F243L	ENSP00000262262:F243L	F	+	1	0	CD33	56421406	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.212000	0.17497	1.322000	0.45245	0.379000	0.24179	TTT	T|0.958;C|0.042	0.042	strong		0.502	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		C	51729594	T	C	51729594	3	2	22	1	0	0	0	0	1	0	0	0	3005	1609	56	3	741	3	CD33	19	51729594	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	99109	51729594	7399389	10123	15231										
CD33	945	hgsc.bcm.edu	37	chr19	51738465	51738465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccattggaggagctggtGttacagccctgctcgctctt	14	11	1	0	rs58981829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51738465G>A	ENST00000262262.4	+	5	820	c.799G>A	c.(799-801)Gtt>Att	p.V267I	CD33_ENST00000421133.2_Missense_Mutation_p.V140I|CD33_ENST00000391796.3_Missense_Mutation_p.V267I|CD33_ENST00000436584.2_Missense_Mutation_p.V140I	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	267			V -> I (in dbSNP:rs58981829).		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGCTGGTGTTACAGCCCT	0.502													g|||	203	0.0405351	0.1399	0.0245	5008	,	,		19411	0.0		0.001	False		,,,				2504	0.0				p.V267I		Atlas-SNP	.											CD33,NS,carcinoma,0,1	CD33	55	1	0			c.G799A						PASS	.	A	ILE/VAL,ILE/VAL,ILE/VAL	521,3885		29,463,1711	151	123	133		418,799,799	1.9	0	19	dbSNP_129	133	5,8595		0,5,4295	yes	missense,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	29,29,29	29,468,6006	AA,AG,GG		0.0581,11.8248,4.0443	benign,benign,benign	140/238,267/311,267/365	51738465	526,12480	2203	4300	6503	SO:0001583	missense	945	exon5			GCTGGTGTTACAG	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.799G>A	19.37:g.51738465G>A	ENSP00000262262:p.Val267Ile	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	224	121	0.540179	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	67	0.030677655677655676	54	0.10975609756097561	12	0.03314917127071823	0	0.0	1	0.0013192612137203166	.	6.151	0.396010	0.11638	0.118248	5.81E-4	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39997	1.05;2.69;2.69;2.16	4.13	1.93	0.25924	.	1.922710	0.03611	N	0.234840	T	0.00524	0.0017	L	0.35644	1.08	0.80722	P	0.0	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.10405	-1.0631	9	0.26408	T	0.33	.	9.5522	0.39317	0.195:0.0:0.805:0.0	rs58981829;rs61736474	140;267;267	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	I	140;267;140;267	ENSP00000403331:V140I;ENSP00000262262:V267I;ENSP00000410126:V140I;ENSP00000375673:V267I	ENSP00000262262:V267I	V	+	1	0	CD33	56430277	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.249000	0.18216	0.169000	0.19679	-0.939000	0.02691	GTT	G|0.955;A|0.045	0.045	strong		0.502	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		A	51738465	G	A	51738465	3	1	22	1	0	0	0	0	1	0	0	0	3005	1377	48	2	817	2	CD33	19	51738465	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8871	51738465	7390518	10124	15232										
CD33	945	hgsc.bcm.edu	37	chr19	51738920	51738920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacccaccctaccacagggTcagcctccccggtgagtgat	9	17	1	2	rs61736475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51738920T>C	ENST00000262262.4	+	6	934	c.913T>C	c.(913-915)Tca>Cca	p.S305P	CD33_ENST00000421133.2_Missense_Mutation_p.S178P|CD33_ENST00000391796.3_Missense_Mutation_p.S305P|CD33_ENST00000436584.2_Missense_Mutation_p.S178P	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	305					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TACCACAGGGTCAGCCTCCCC	0.597													N|||	525	0.104832	0.3472	0.0533	5008	,	,		16396	0.002		0.0179	False		,,,				2504	0.0092				p.S305P		Atlas-SNP	.											.	CD33	55	.	0			c.T913C						PASS	.	C	PRO/SER,PRO/SER,PRO/SER	1299,3107	688.3+/-405.0	196,907,1100	78	68	71		532,913,913	-5.7	0	19	dbSNP_129	71	197,8403	802.2+/-407.3	7,183,4110	yes	missense,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	74,74,74	203,1090,5210	CC,CT,TT		2.2907,29.4825,11.5024	benign,benign,benign	178/238,305/311,305/365	51738920	1496,11510	2203	4300	6503	SO:0001583	missense	945	exon6			ACAGGGTCAGCCT	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.913T>C	19.37:g.51738920T>C	ENSP00000262262:p.Ser305Pro	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	186	0.08516483516483517	150	0.3048780487804878	23	0.06353591160220995	2	0.0034965034965034965	11	0.014511873350923483	C	0.048	-1.260470	0.01445	0.294825	0.022907	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.38401	1.14;2.31;1.31;2.21	3.79	-5.74	0.02391	.	.	.	.	.	T	0.00012	0.0000	N	0.01751	-0.74	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40869	-0.9540	8	0.20519	T	0.43	.	5.2162	0.15344	0.5563:0.1886:0.0:0.2551	rs61736475	178;305;305	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	P	178;305;178;305	ENSP00000403331:S178P;ENSP00000262262:S305P;ENSP00000410126:S178P;ENSP00000375673:S305P	ENSP00000262262:S305P	S	+	1	0	CD33	56430732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.791000	0.00767	-1.363000	0.02164	-0.213000	0.12676	TCA	T|0.895;C|0.105	0.105	strong		0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		C	51738920	T	C	51738920	3	2	22	1	0	0	0	0	1	0	0	0	3005	1667	58	2	935	2	CD33	19	51738920	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	455	51738920	7390063	10125	15233										
CD33	945	hgsc.bcm.edu	37	chr19	51742839	51742839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgttcaggtgccgcccctActgtggagatggatgaggag	16	9	1	2	rs35632246	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51742839A>G	ENST00000262262.4	+	7	1012	c.991A>G	c.(991-993)Act>Gct	p.T331A	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.T204A	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	331			T -> A (in dbSNP:rs35632246).		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGCCGCCCCTACTGTGGAGAT	0.517													a|||	62	0.0123802	0.0454	0.0029	5008	,	,		18838	0.0		0.0	False		,,,				2504	0.0				p.T331A		Atlas-SNP	.											.	CD33	55	.	0			c.A991G						PASS	.	A	ALA/THR,ALA/THR	194,4212	121.3+/-158.8	6,182,2015	115	99	105		610,991	-5	0	19	dbSNP_126	105	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense	CD33	NM_001082618.1,NM_001772.3	58,58	6,184,6313	GG,GA,AA		0.0233,4.4031,1.507	benign,benign	204/238,331/365	51742839	196,12810	2203	4300	6503	SO:0001583	missense	945	exon7			GCCCCTACTGTGG	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.991A>G	19.37:g.51742839A>G	ENSP00000262262:p.Thr331Ala	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	26	0.011904761904761904	25	0.0508130081300813	1	0.0027624309392265192	0	0.0	0	0.0	A	3.525	-0.096917	0.07010	0.044031	2.33E-4	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.04758	3.56;3.56	2.51	-5.02	0.02982	.	.	.	.	.	T	0.00552	0.0018	L	0.39147	1.195	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.44528	-0.9322	9	0.22706	T	0.39	.	3.2402	0.06778	0.2436:0.0:0.2473:0.5091	rs35632246	204;331	C9JEN7;P20138	.;CD33_HUMAN	A	331;204	ENSP00000262262:T331A;ENSP00000410126:T204A	ENSP00000262262:T331A	T	+	1	0	CD33	56434651	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.760000	0.01806	-1.514000	0.01786	0.260000	0.18958	ACT	A|0.986;G|0.014	0.014	strong		0.517	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		G	51742839	A	G	51742839	3	3	22	1	0	0	0	0	1	0	0	0	3005	391	14	2	1030	2	CD33	19	51742839	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3919	51742839	7386144	10126	15234										
ETFB	2109	hgsc.bcm.edu	37	chr19	51857738	51857738	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggttagagtttgtaggcaggGgcaggtcaccctgtctcctt	14	9	2	1	rs79338777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51857738G>A	ENST00000309244.4	-	2	149				CTD-2616J11.11_ENST00000600067.1_Intron|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.P52L	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		tgtaggcagGGGCAGGTCACC	0.582													g|||	387	0.0772764	0.0439	0.0403	5008	,	,		16395	0.1181		0.0696	False		,,,				2504	0.1145				p.P52L		Atlas-SNP	.											.	ETFB	46	.	0			c.C155T						PASS	.	G	LEU/PRO,	196,4210	122.5+/-159.9	3,190,2010	79	72	74		155,	-5.5	0	19	dbSNP_131	74	591,8009	156.7+/-210.5	22,547,3731	yes	missense,intron	ETFB	NM_001014763.1,NM_001985.2	98,	25,737,5741	AA,AG,GG		6.8721,4.4485,6.0511	probably-damaging,	52/347,	51857738	787,12219	2203	4300	6503	SO:0001627	intron_variant	2109	exon1			GGCAGGGGCAGGT	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-176C>T	19.37:g.51857738G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	31	0.356322	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	156	0.07142857142857142	23	0.046747967479674794	13	0.03591160220994475	69	0.12062937062937062	51	0.06728232189973615	g	12.18	1.860517	0.32884	0.044485	0.068721	ENSG00000105379	ENST00000354232	D	0.85955	-2.05	2.77	-5.53	0.02552	.	.	.	.	.	T	0.01905	0.0060	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.15954	-1.0419	6	.	.	.	.	1.673	0.02816	0.2749:0.125:0.4452:0.1549	.	52	P38117-2	.	L	52	ENSP00000346173:P52L	.	P	-	2	0	ETFB	56549550	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.733000	0.00803	-1.622000	0.01560	-0.290000	0.09829	CCC	G|0.937;A|0.063	0.063	strong		0.582	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			A	51857738	G	A	51857738	1	1	22	0	1	0	0	0	0	0	0	0	5270	1232	43	2		2	ETFB	19	51857738	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	114899	51857738	7271245	10127	15235										
ETFB	2109	hgsc.bcm.edu	37	chr19	51857874	51857875	+	Intron	INS	-	-	CCACAG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttacagtatttatggtaacINSccacagtgagaggtacattt					rs113835487|rs397825770|rs61361626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51857874_51857875insCCACAG	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_In_Frame_Ins_p.5_6insWL|CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TTTATGGTAACCCACAGTGAGA	0.381														409	0.0816693	0.2595	0.0375	5008	,	,		22079	0.001		0.005	False		,,,				2504	0.0348				p.V7delinsLWV		Pindel,Atlas-Indel	.											.	ETFB	46	.	0			c.19_20insCTGTGG						PASS	.		,	1043,3221		124,795,1213					,	-0.7	0		dbSNP_130	53	41,8213		0,41,4086	no	intron,coding	ETFB	NM_001985.2,NM_001014763.1	,	124,836,5299	A1A1,A1R,RR		0.4967,24.4606,8.6595	,	,		1084,11434				SO:0001627	intron_variant	2109	exon1			.	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-312->CTGTGG	19.37:g.51857875_51857880dupCCACAG		Somatic	79	.	.		WXS	Illumina HiSeq	Phase_I	90	20	0.222	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	In_Frame_Ins	INS	ENST00000309244.4	37	CCDS12828.1																																																																																			-|0.937;CCACAG|0.063	0.063	strong		0.381	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			CCACAG	51857875	-	CCACAG	51857874	6	5	22	0	1	1	1	0	0	0	0	0	5270	507	18	0		0	ETFB	19	51857874	Intron	INS	-	TCGA-G8-6324-01A-11D-2210-10	136	51857874	7271109	10128	15236										
CLDND2	125875	hgsc.bcm.edu	37	chr19	51870771	51870771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggaccaagagaagaagaCgttgttcttccacgcattct	9	9	2	3	rs61737052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51870771C>A	ENST00000291715.1	-	3	795	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F	CLDND2_ENST00000601435.1_Missense_Mutation_p.V124F|CTD-2616J11.11_ENST00000600067.1_Intron|CTD-2616J11.10_ENST00000595500.1_RNA|ETFB_ENST00000309244.4_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	124						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGAAGAAGACGTTGTTCTTC	0.582													C|||	269	0.0537141	0.1906	0.0245	5008	,	,		14710	0.0		0.0	False		,,,				2504	0.0				p.V124F		Atlas-SNP	.											.	CLDND2	11	.	0			c.G370T						PASS	.	C	PHE/VAL	698,3708	280.2+/-275.2	57,584,1562	72	73	73		370	1.1	0.3	19	dbSNP_129	73	11,8589	7.1+/-27.0	0,11,4289	yes	missense	CLDND2	NM_152353.2	50	57,595,5851	AA,AC,CC		0.1279,15.842,5.4513	possibly-damaging	124/168	51870771	709,12297	2203	4300	6503	SO:0001583	missense	125875	exon3			AGAAGACGTTGTT	BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.370G>T	19.37:g.51870771C>A	ENSP00000291715:p.Val124Phe	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	192	101	0.526042	NM_152353		Missense_Mutation	SNP	ENST00000291715.1	37	CCDS12829.1	86	0.039377289377289376	74	0.15040650406504066	12	0.03314917127071823	0	0.0	0	0.0	C	17.60	3.430878	0.62844	0.15842	0.001279	ENSG00000160318	ENST00000291715	D	0.88586	-2.4	4.63	1.11	0.20524	.	0.377447	0.18697	N	0.133682	T	0.01835	0.0058	M	0.67953	2.075	0.80722	P	0.0	P	0.50272	0.933	P	0.48982	0.597	T	0.58081	-0.7699	9	0.10636	T	0.68	-10.6815	5.0991	0.14749	0.0:0.6298:0.17:0.2002	.	124	Q8NHS1	CLDN2_HUMAN	F	124	ENSP00000291715:V124F	ENSP00000291715:V124F	V	-	1	0	CLDND2	56562583	0.348000	0.24861	0.346000	0.25655	0.864000	0.49448	0.320000	0.19540	0.362000	0.24319	0.491000	0.48974	GTC	C|0.949;A|0.051	0.051	strong		0.582	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		A	51870771	C	A	51870771	3	1	22	1	0	0	0	0	1	0	0	0	3494	536	19	4	141	4	CLDND2	19	51870771	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12897	51870771	7258212	10129	15237										
CLDND2	125875	hgsc.bcm.edu	37	chr19	51871157	51871157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccgccgaggaagaggaagGcgctcgtggtctggccccgc	16	14	1	1	rs74538792	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51871157G>A	ENST00000291715.1	-	2	718	c.293C>T	c.(292-294)gCc>gTc	p.A98V	CTD-2616J11.11_ENST00000600067.1_Missense_Mutation_p.A33V|ETFB_ENST00000309244.4_5'Flank|CLDND2_ENST00000601435.1_Missense_Mutation_p.A98V|CTD-2616J11.10_ENST00000595500.1_RNA	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	98						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAAGAGGAAGGCGCTCGTGGT	0.721													G|||	174	0.0347444	0.1195	0.0202	5008	,	,		12598	0.001		0.001	False		,,,				2504	0.0				p.A98V		Atlas-SNP	.											.	CLDND2	11	.	0			c.C293T						PASS	.	G	VAL/ALA	394,3980		20,354,1813	18	21	20		293	-2.1	0	19	dbSNP_131	20	6,8554		0,6,4274	yes	missense	CLDND2	NM_152353.2	64	20,360,6087	AA,AG,GG		0.0701,9.0078,3.0926	benign	98/168	51871157	400,12534	2187	4280	6467	SO:0001583	missense	125875	exon2			AGGAAGGCGCTCG	BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.293C>T	19.37:g.51871157G>A	ENSP00000291715:p.Ala98Val	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	80	41	0.5125	NM_152353		Missense_Mutation	SNP	ENST00000291715.1	37	CCDS12829.1	59	0.027014652014652016	49	0.09959349593495935	10	0.027624309392265192	0	0.0	0	0.0	G	13.11	2.139648	0.37728	0.090078	7.01E-4	ENSG00000160318	ENST00000291715	D	0.88046	-2.33	4.69	-2.13	0.07144	.	2.567250	0.01253	N	0.008934	T	0.08758	0.0217	L	0.31664	0.95	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.49844	-0.8896	10	0.09590	T	0.72	-3.6824	5.168	0.15096	0.4412:0.164:0.3948:0.0	.	98	Q8NHS1	CLDN2_HUMAN	V	98	ENSP00000291715:A98V	ENSP00000291715:A98V	A	-	2	0	CLDND2	56562969	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.512000	0.06313	-0.169000	0.10834	0.561000	0.74099	GCC	G|0.968;A|0.032	0.032	strong		0.721	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		A	51871157	G	A	51871157	3	1	22	1	0	0	0	0	1	0	0	0	3494	1203	42	2	222	2	CLDND2	19	51871157	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	386	51871157	7257826	10130	15238										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51917735	51917735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgattcccagaaacgctccGttggagaatgccgttgagat	11	11	0	3	rs1974821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51917735G>A	ENST00000339313.5	-	9	1766	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SIGLEC10_ENST00000432469.2_Silent_p.N372N|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.N492N|SIGLEC10_ENST00000353836.5_Silent_p.N455N|SIGLEC10_ENST00000441969.3_Silent_p.N397N|SIGLEC10_ENST00000525998.1_Silent_p.N365N|SIGLEC10_ENST00000436984.2_Silent_p.N407N|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.N550N|SIGLEC10_ENST00000442846.3_Silent_p.N307N|CTD-2616J11.2_ENST00000526996.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	550					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.N492N(1)|p.N550N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAAACGCTCCGTTGGAGAATG	0.587													g|||	1142	0.228035	0.3404	0.1816	5008	,	,		18581	0.2113		0.1451	False		,,,				2504	0.2117				p.N550N		Atlas-SNP	.											SIGLEC12_ENST00000439889,NS,carcinoma,0,2	SIGLEC10	112	2	2	Substitution - coding silent(2)	stomach(2)	c.C1650T						scavenged	.	G	,,,,,,	1407,2999		211,985,1007	99	88	92		1476,1365,1221,1191,1116,921,1650	-9.1	0	19	dbSNP_92	92	1207,7393		84,1039,3177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	,,,,,,	295,2024,4184	AA,AG,GG		14.0349,31.9337,20.0984	,,,,,,	492/640,455/603,407/555,397/545,372/520,307/455,550/698	51917735	2614,10392	2203	4300	6503	SO:0001819	synonymous_variant	89790	exon9			CGCTCCGTTGGAG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1650C>T	19.37:g.51917735G>A		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	98	66	0.673469	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			G|0.795;A|0.205	0.205	strong		0.587	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51917735	G	A	51917735	2	1	22	1	0	0	0	0	0	0	0	1	14306	1136	40	1		1	SIGLEC10	19	51917735	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46578	51917735	7211248	10131	15239										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51918112	51918112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggatccactctgggccccAtggacgttccaggcctcaca	10	15	2	0	rs3810099	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51918112A>G	ENST00000339313.5	-	8	1697	c.1581T>C	c.(1579-1581)caT>caC	p.H527H	SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.H469H|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.H527H|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	527					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCTGGGCCCCATGGACGTTCC	0.662													a|||	1218	0.243211	0.3835	0.1974	5008	,	,		15844	0.2113		0.1501	False		,,,				2504	0.2147				p.H527H		Atlas-SNP	.											SIGLEC12_ENST00000439889,NS,carcinoma,-1,4	SIGLEC10	112	4	0			c.T1581C						PASS	.	A	,,,,,,	1516,2890		260,996,947	55	65	61		1407,,,,,,1581	-9.4	0	19	dbSNP_107	61	1291,7309		101,1089,3110	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	,,,,,,	361,2085,4057	GG,GA,AA		15.0116,34.4076,21.5823	,,,,,,	469/640,,,,,,527/698	51918112	2807,10199	2203	4300	6503	SO:0001819	synonymous_variant	89790	exon8			GGCCCCATGGACG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1581T>C	19.37:g.51918112A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	115	60	0.521739	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			A|0.791;G|0.209	0.209	strong		0.662	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		G	51918112	A	G	51918112	2	3	22	1	0	0	0	0	0	0	0	1	14306	214	8	2		2	SIGLEC10	19	51918112	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	377	51918112	7210871	10132	15240										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51918135	51918135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgttccaggcctcacagcGgagcctgaggccggagctga	15	13	1	2	rs1833785	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51918135G>T	ENST00000339313.5	-	8	1674	c.1558C>A	c.(1558-1560)Cgc>Agc	p.R520S	SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R462S|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R520S|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	520			R -> S (in dbSNP:rs1833785).		cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCTCACAGCGGAGCCTGAGG	0.667													t|||	1217	0.243011	0.3828	0.1974	5008	,	,		15822	0.2113		0.1501	False		,,,				2504	0.2147				p.R520S		Atlas-SNP	.											.	SIGLEC10	112	.	0			c.C1558A						PASS	.	T	SER/ARG,,,,,,SER/ARG	1520,2884		258,1004,940	44	52	49		1384,,,,,,1558	-2.3	0.8	19	dbSNP_92	49	1283,7315		99,1085,3115	yes	missense,intron,intron,intron,intron,intron,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	110,,,,,,110	357,2089,4055	TT,TG,GG		14.9221,34.5141,21.5582	benign,,,,,,benign	462/640,,,,,,520/698	51918135	2803,10199	2202	4299	6501	SO:0001583	missense	89790	exon8			CACAGCGGAGCCT	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1558C>A	19.37:g.51918135G>T	ENSP00000345243:p.Arg520Ser	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	100	50	0.5	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	461	0.21108058608058608	178	0.3617886178861789	65	0.17955801104972377	108	0.1888111888111888	110	0.14511873350923482	.	2.864	-0.235411	0.05983	0.345141	0.149221	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.85484	-1.99;-1.99;-1.99	4.83	-2.29	0.06805	.	0.523323	0.19200	N	0.120203	T	0.00012	0.0000	N	0.00385	-1.57	0.58432	P	9.000000000036756E-6	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.12243	-1.0555	9	0.02654	T	1	.	11.8093	0.52173	0.0:0.086:0.7091:0.2048	rs1833785;rs3810100;rs16982678	462;520	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	S	520;462;520	ENSP00000348646:R520S;ENSP00000389132:R462S;ENSP00000345243:R520S	ENSP00000345243:R520S	R	-	1	0	SIGLEC10	56609947	0.006000	0.16342	0.838000	0.33150	0.003000	0.03518	-0.988000	0.03739	-0.803000	0.04415	-1.915000	0.00519	CGC	G|0.776;T|0.224	0.224	strong		0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		T	51918135	G	T	51918135	3	4	22	1	0	0	0	0	1	0	0	0	14306	1116	39	4	551	4	SIGLEC10	19	51918135	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	51918135	7210848	10133	15241										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51918360	51918360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcccagcagcttcggggAgtctgaggggagggaggaca	21	8	1	1	rs61741672	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51918360A>G	ENST00000339313.5	-	8	1449	c.1333T>C	c.(1333-1335)Tcc>Ccc	p.S445P	SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S445P|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.S387P|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	445					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTTCGGGGAGTCTGAGGGG	0.687													g|||	1213	0.242212	0.382	0.1974	5008	,	,		16798	0.2113		0.1471	False		,,,				2504	0.2147				p.S445P		Atlas-SNP	.											.	SIGLEC10	112	.	0			c.T1333C						PASS	.	G	PRO/SER,,,,,,PRO/SER	1434,2972		248,938,1017	21	24	23		1159,,,,,,1333	-0.1	0.1	19	dbSNP_129	23	1173,7425		88,997,3214	no	missense,intron,intron,intron,intron,intron,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	74,,,,,,74	336,1935,4231	GG,GA,AA		13.6427,32.5465,20.0477	benign,,,,,,benign	387/640,,,,,,445/698	51918360	2607,10397	2203	4299	6502	SO:0001583	missense	89790	exon8			TCGGGGAGTCTGA	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1333T>C	19.37:g.51918360A>G	ENSP00000345243:p.Ser445Pro	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	87	33	0.37931	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	455	0.20833333333333334	176	0.35772357723577236	66	0.18232044198895028	105	0.18356643356643357	108	0.1424802110817942	.	0.005	-2.126313	0.00342	0.325465	0.136427	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	T;T;T	0.07114	3.22;3.22;3.22	4.83	-0.0502	0.13831	Immunoglobulin-like fold (1);	0.681929	0.13484	N	0.384443	T	0.00012	0.0000	N	0.00101	-2.135	0.48632	P	3.1800000000004047E-4	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41378	-0.9512	9	0.02654	T	1	.	6.3375	0.21304	0.1762:0.4455:0.3783:0.0	.	387;445	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	P	445;387;445	ENSP00000348646:S445P;ENSP00000389132:S387P;ENSP00000345243:S445P	ENSP00000345243:S445P	S	-	1	0	SIGLEC10	56610172	0.996000	0.38824	0.149000	0.22428	0.064000	0.16182	0.332000	0.19751	-0.430000	0.07318	-1.147000	0.01851	TCC	A|0.792;G|0.208	0.208	strong		0.687	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		G	51918360	A	G	51918360	3	3	22	1	0	0	0	0	1	0	0	0	14306	304	11	3	776	3	SIGLEC10	19	51918360	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	225	51918360	7210623	10134	15242										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51919267	51919267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctccagccccaggggtctAgggccccagggatgggacga	16	13	1	0	rs7258638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51919267A>G	ENST00000339313.5	-	5	1025	c.909T>C	c.(907-909)ccT>ccC	p.P303P	SIGLEC10_ENST00000356298.5_Silent_p.P303P|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.P245P|SIGLEC10_ENST00000353836.5_Silent_p.P303P|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Silent_p.P220P|SIGLEC10_ENST00000436984.2_Silent_p.P255P|SIGLEC10_ENST00000441969.3_Silent_p.P245P|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	303	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCAGGGGTCTAGGGCCCCAGG	0.677																																					p.P303P		Atlas-SNP	.											.	SIGLEC10	112	.	0			c.T909C						PASS	.						26	30	29					19																	51919267		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon5			GGGTCTAGGGCCC	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.909T>C	19.37:g.51919267A>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	177	29	0.163842	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			A|0.996;G|0.004	0.004	strong		0.677	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		G	51919267	A	G	51919267	2	3	22	1	0	0	0	0	0	0	0	1	14306	407	15	3		3	SIGLEC10	19	51919267	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	907	51919267	7209716	10135	15243										
SIGLEC8	27181	hgsc.bcm.edu	37	chr19	51957556	51957556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggccttgccgatttcttccTgcaggacctcactctgagtg	10	13	3	1	rs3829659	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51957556T>C	ENST00000321424.3	-	6	1228	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R279G|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R295G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	388			R -> G (in dbSNP:rs3829659).		cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R388G(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATTTCTTCCTGCAGGACCTC	0.592													t|||	1637	0.326877	0.5461	0.255	5008	,	,		17901	0.2321		0.2714	False		,,,				2504	0.2362				p.R388G		Atlas-SNP	.											SIGLEC8,NS,carcinoma,0,1	SIGLEC8	130	1	1	Substitution - Missense(1)	stomach(1)	c.A1162G						PASS	.	C	GLY/ARG	2365,2041		638,1089,476	96	90	92		1162	-0.1	0	19	dbSNP_107	92	2089,6511		251,1587,2462	no	missense	SIGLEC8	NM_014442.2	125	889,2676,2938	CC,CT,TT		24.2907,46.3232,34.2457	probably-damaging	388/500	51957556	4454,8552	2203	4300	6503	SO:0001583	missense	27181	exon6			TCTTCCTGCAGGA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1162A>G	19.37:g.51957556T>C	ENSP00000321077:p.Arg388Gly	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	210	101	0.480952	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	725	0.33195970695970695	262	0.532520325203252	107	0.2955801104972376	135	0.23601398601398602	221	0.29155672823219	.	11.33	1.607566	0.28623	0.536768	0.242907	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.73681	0.62;-0.77;0.19	2.09	-0.0729	0.13737	.	.	.	.	.	T	0.00012	0.0000	M	0.86502	2.82	0.80722	P	0.0	D;P;P	0.89917	1.0;0.909;0.915	D;B;B	0.69142	0.962;0.382;0.236	T	0.38067	-0.9678	8	0.62326	D	0.03	.	4.3104	0.10967	0.0:0.361:0.0:0.639	rs3829659;rs3829659	279;295;388	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	G	279;388;295	ENSP00000389142:R279G;ENSP00000321077:R388G;ENSP00000339448:R295G	ENSP00000321077:R388G	R	-	1	2	SIGLEC8	56649368	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.711000	0.05019	-0.079000	0.12707	-0.475000	0.04921	AGG	T|0.647;C|0.353	0.353	strong		0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		C	51957556	T	C	51957556	3	2	22	1	0	0	0	0	1	0	0	0	14314	1579	55	3	345	3	SIGLEC8	19	51957556	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	38289	51957556	7171427	10136	15244										
SIGLEC8	27181	hgsc.bcm.edu	37	chr19	51960940	51960940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcaggtcaggttcctggAgtggccagactctagggtcc	15	10	2	2	rs10409962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51960940A>G	ENST00000321424.3	-	2	574	c.508T>C	c.(508-510)Tcc>Ccc	p.S170P	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	170	Ig-like C2-type 1.		S -> P (in dbSNP:rs10409962). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S170P(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGTTCCTGGAGTGGCCAGAC	0.617													G|||	1148	0.229233	0.5855	0.1527	5008	,	,		17793	0.1022		0.0795	False		,,,				2504	0.0869				p.S170P		Atlas-SNP	.											SIGLEC8,colon,carcinoma,+1,2	SIGLEC8	130	2	1	Substitution - Missense(1)	stomach(1)	c.T508C						PASS	.	G	PRO/SER	2183,2223		536,1111,556	78	86	83		508	0.3	0	19	dbSNP_119	83	614,7986		24,566,3710	yes	missense	SIGLEC8	NM_014442.2	74	560,1677,4266	GG,GA,AA		7.1395,49.5461,21.5055	benign	170/500	51960940	2797,10209	2203	4300	6503	SO:0001583	missense	27181	exon2			TCCTGGAGTGGCC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.508T>C	19.37:g.51960940A>G	ENSP00000321077:p.Ser170Pro	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	104	56	0.538462	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	452	0.20695970695970695	274	0.556910569105691	57	0.1574585635359116	54	0.0944055944055944	67	0.08839050131926121	.	0.010	-1.781355	0.00634	0.495461	0.071395	ENSG00000105366	ENST00000321424	T	0.26810	1.71	2.69	0.336	0.15958	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.596060	0.14002	N	0.348073	T	0.00012	0.0000	N	0.00298	-1.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41980	-0.9478	9	0.02654	T	1	.	2.171	0.03849	0.3096:0.0:0.4397:0.2507	rs10409962;rs17846502;rs17859571;rs10409962	170	Q9NYZ4	SIGL8_HUMAN	P	170	ENSP00000321077:S170P	ENSP00000321077:S170P	S	-	1	0	SIGLEC8	56652752	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.512000	0.06313	0.008000	0.14787	-0.304000	0.09214	TCC	A|0.783;G|0.217	0.217	strong		0.617	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		G	51960940	A	G	51960940	3	3	22	1	0	0	0	0	1	0	0	0	14314	304	11	3	1015	3	SIGLEC8	19	51960940	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3384	51960940	7168043	10137	15245										
SIGLEC12	89858	hgsc.bcm.edu	37	chr19	51994926	51994926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgatctcggagtactcaTagccgatggcctcctgttcc	10	12	2	1	rs7245807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:51994926T>C	ENST00000291707.3	-	8	1812	c.1757A>G	c.(1756-1758)tAt>tGt	p.Y586C	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Y468C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	586			Y -> C (in dbSNP:rs7245807).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGAGTACTCATAGCCGATGGC	0.572													t|||	234	0.0467252	0.1437	0.0144	5008	,	,		14528	0.0327		0.001	False		,,,				2504	0.0				p.Y586C		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.A1757G						PASS	.	T	CYS/TYR,CYS/TYR	523,3883		36,451,1716	122	106	111		1403,1757	-4.5	0	19	dbSNP_116	111	5,8595		0,5,4295	yes	missense,missense	SIGLEC12	NM_033329.1,NM_053003.2	194,194	36,456,6011	CC,CT,TT		0.0581,11.8702,4.0597	benign,benign	468/478,586/596	51994926	528,12478	2203	4300	6503	SO:0001583	missense	89858	exon8			TACTCATAGCCGA	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1757A>G	19.37:g.51994926T>C	ENSP00000291707:p.Tyr586Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	71	0.572581	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	91	0.041666666666666664	66	0.13414634146341464	6	0.016574585635359115	19	0.033216783216783216	0	0.0	.	0.031	-1.337170	0.01287	0.118702	5.81E-4	ENSG00000254521	ENST00000291707	T	0.04654	3.58	2.23	-4.47	0.03525	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39502	-0.9611	9	0.44086	T	0.13	.	0.9451	0.01364	0.1876:0.1548:0.2634:0.3942	rs7245807;rs59181054;rs7245807	586;468	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	C	586	ENSP00000291707:Y586C	ENSP00000291707:Y586C	Y	-	2	0	SIGLEC12	56686738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.806000	0.00361	-5.302000	0.00017	-1.158000	0.01797	TAT	T|0.956;C|0.044	0.044	strong		0.572	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		C	51994926	T	C	51994926	3	2	22	1	0	0	0	0	1	0	0	0	14308	1406	49	2	34	2	SIGLEC12	19	51994926	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33986	51994926	7134057	10138	15246										
SIGLEC12	89858	hgsc.bcm.edu	37	chr19	52000616	52000616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcacacaacgaagatgaTgcagaagtacaggaagacca	10	9	1	4	rs28572419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52000616T>C	ENST00000291707.3	-	6	1544	c.1489A>G	c.(1489-1491)Atc>Gtc	p.I497V	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.I379V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	497					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACGAAGATGATGCAGAAGTAC	0.567													N|||	165	0.0329473	0.1203	0.0086	5008	,	,		17500	0.0		0.0	False		,,,				2504	0.0				p.I497V		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.A1489G						PASS	.	C	VAL/ILE,VAL/ILE	455,3951		24,407,1772	157	138	144		1135,1489	-3.4	0	19	dbSNP_125	144	5,8595		0,5,4295	yes	missense,missense	SIGLEC12	NM_033329.1,NM_053003.2	29,29	24,412,6067	CC,CT,TT		0.0581,10.3268,3.5368	benign,benign	379/478,497/596	52000616	460,12546	2203	4300	6503	SO:0001583	missense	89858	exon6			AGATGATGCAGAA	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1489A>G	19.37:g.52000616T>C	ENSP00000291707:p.Ile497Val	Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	212	120	0.566038	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	61	0.027930402930402932	57	0.11585365853658537	4	0.011049723756906077	0	0.0	0	0.0	.	0.004	-2.281268	0.00251	0.103268	5.81E-4	ENSG00000254521	ENST00000291707	T	0.35236	1.32	1.69	-3.38	0.04883	.	.	.	.	.	T	0.00178	0.0005	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.16041	-1.0416	9	0.29301	T	0.29	.	0.7952	0.01065	0.1706:0.202:0.3393:0.2881	rs28572419	497;379	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	V	497	ENSP00000291707:I497V	ENSP00000291707:I497V	I	-	1	0	SIGLEC12	56692428	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.840000	0.00738	-1.881000	0.01123	-0.751000	0.03497	ATC	T|0.968;C|0.032	0.032	strong		0.567	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		C	52000616	T	C	52000616	3	2	22	1	0	0	0	0	1	0	0	0	14308	1464	51	2	310	2	SIGLEC12	19	52000616	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5690	52000616	7128367	10139	15247										
ZNF175	7728	hgsc.bcm.edu	37	chr19	52089982	52089982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagagatggttcatggtgttCcattttagaagaactgaggc	12	5	1	4	rs61736479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52089982C>G	ENST00000262259.2	+	5	756	c.398C>G	c.(397-399)tCc>tGc	p.S133C	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	133					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TCATGGTGTTCCATTTTAGAA	0.403													C|||	740	0.147764	0.3752	0.1138	5008	,	,		20622	0.121		0.0129	False		,,,				2504	0.0307				p.S133C		Atlas-SNP	.											.	ZNF175	65	.	0			c.C398G						PASS	.	C	CYS/SER	1471,2935	472.6+/-356.4	251,969,983	80	79	79		398	0.1	0	19	dbSNP_129	79	60,8538	34.3+/-88.2	0,60,4239	yes	missense	ZNF175	NM_007147.2	112	251,1029,5222	GG,GC,CC		0.6978,33.3863,11.7733	probably-damaging	133/712	52089982	1531,11473	2203	4299	6502	SO:0001583	missense	7728	exon5			GGTGTTCCATTTT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.398C>G	19.37:g.52089982C>G	ENSP00000262259:p.Ser133Cys	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	164	82	0.5	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	290	0.13278388278388278	171	0.3475609756097561	41	0.1132596685082873	69	0.12062937062937062	9	0.011873350923482849	C	10.21	1.286900	0.23478	0.333863	0.006978	ENSG00000105497	ENST00000262259	T	0.10099	2.91	2.35	0.133	0.14766	.	.	.	.	.	T	0.00012	0.0000	L	0.38175	1.15	0.53005	P	3.2000000000032E-5	B	0.18013	0.025	B	0.14023	0.01	T	0.47623	-0.9103	8	0.40728	T	0.16	.	1.2576	0.01995	0.2257:0.4137:0.2212:0.1394	rs61736479	133	Q9Y473	ZN175_HUMAN	C	133	ENSP00000262259:S133C	ENSP00000262259:S133C	S	+	2	0	ZNF175	56781794	0.000000	0.05858	0.012000	0.15200	0.421000	0.31385	-0.493000	0.06459	0.112000	0.17975	0.655000	0.94253	TCC	C|0.885;G|0.115	0.115	strong		0.403	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		G	52089982	C	G	52089982	3	3	22	1	0	0	0	0	1	0	0	0	17742	855	30	4	412	4	ZNF175	19	52089982	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	89366	52089982	7039001	10140	15248										
ZNF175	7728	hgsc.bcm.edu	37	chr19	52090671	52090671	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacactagaaagaagcccTataaatgccatgactgtgga	8	10	0	3	rs60097262	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52090671T>A	ENST00000262259.2	+	5	1445	c.1087T>A	c.(1087-1089)Tat>Aat	p.Y363N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	363			Y -> N (in dbSNP:rs60097262).		defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAAGAAGCCCTATAAATGCCA	0.398													T|||	100	0.0199681	0.0711	0.0086	5008	,	,		22349	0.0		0.0	False		,,,				2504	0.0				p.Y363N		Atlas-SNP	.											.	ZNF175	65	.	0			c.T1087A						PASS	.	T	ASN/TYR	232,4174	138.4+/-174.2	5,222,1976	105	109	108		1087	0.1	1	19	dbSNP_129	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF175	NM_007147.2	143	5,223,6275	AA,AT,TT		0.0116,5.2655,1.7915	benign	363/712	52090671	233,12773	2203	4300	6503	SO:0001583	missense	7728	exon5			AAGCCCTATAAAT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1087T>A	19.37:g.52090671T>A	ENSP00000262259:p.Tyr363Asn	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	130	56	0.430769	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	30	0.013736263736263736	29	0.05894308943089431	1	0.0027624309392265192	0	0.0	0	0.0	T	10.98	1.503898	0.26949	0.052655	1.16E-4	ENSG00000105497	ENST00000262259	T	0.25749	1.78	2.3	0.113	0.14631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	M	0.89030	3	0.80722	D	1	P	0.41041	0.736	B	0.37304	0.246	T	0.02437	-1.1159	9	0.87932	D	0	.	4.9985	0.14253	0.0:0.4369:0.0:0.5631	rs60097262;rs61736481	363	Q9Y473	ZN175_HUMAN	N	363	ENSP00000262259:Y363N	ENSP00000262259:Y363N	Y	+	1	0	ZNF175	56782483	0.001000	0.12720	0.972000	0.41901	0.872000	0.50106	1.063000	0.30567	0.020000	0.15106	0.460000	0.39030	TAT	T|0.983;A|0.017	0.017	strong		0.398	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		A	52090671	T	A	52090671	3	1	22	1	0	0	0	0	1	0	0	0	17742	1522	53	5	1101	5	ZNF175	19	52090671	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	689	52090671	7038312	10141	15249										
SIGLEC5	8778	hgsc.bcm.edu	37	chr19	52115645	52115645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagatgcttgatctccggGgctgtctggccagggcttct	15	10	3	2	rs3829655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52115645G>C	ENST00000534261.2	-	10	1894	c.1495C>G	c.(1495-1497)Ccc>Gcc	p.P499A	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P499A|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.P499A|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P499A|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P499A			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGATCTCCGGGGCTGTCTGGC	0.498													G|||	2180	0.435304	0.3275	0.4683	5008	,	,		19086	0.5794		0.4225	False		,,,				2504	0.4223				p.P499A		Atlas-SNP	.											.	SIGLEC5	67	.	0			c.C1495G						PASS	.	G	ALA/PRO	1423,2983	460.7+/-352.7	244,935,1024	72	75	74		1495	-1.3	0	19	dbSNP_107	74	3753,4847	527.6+/-381.2	800,2153,1347	yes	missense	SIGLEC5	NM_003830.2	27	1044,3088,2371	CC,CG,GG		43.6395,32.2969,39.797	benign	499/552	52115645	5176,7830	2203	4300	6503	SO:0001583	missense	8778	exon9			CTCCGGGGCTGTC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1495C>G	19.37:g.52115645G>C	ENSP00000473238:p.Pro499Ala	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	137	59	0.430657	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	970	0.4441391941391941	151	0.30691056910569103	166	0.4585635359116022	319	0.5576923076923077	334	0.44063324538258575	G	8.436	0.849683	0.17034	0.322969	0.436395	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.59364	0.27;0.27	3.52	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	M	0.64567	1.98	0.80722	P	0.0	P	0.52463	0.953	B	0.42462	0.388	T	0.40270	-0.9572	8	0.52906	T	0.07	.	1.8675	0.03201	0.1081:0.1749:0.3589:0.3581	rs3829655;rs17852717;rs3829655	499	O15389	SIGL5_HUMAN	A	499	ENSP00000222107:P499A;ENSP00000415200:P499A	ENSP00000222107:P499A	P	-	1	0	SIGLEC5	56807457	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	0.278000	0.18753	-0.109000	0.12044	-0.152000	0.13540	CCC	G|0.577;C|0.423	0.423	strong		0.498	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		C	52115645	G	C	52115645	3	2	22	1	0	0	0	0	1	0	0	0	14311	1232	43	4	164	4	SIGLEC5	19	52115645	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24974	52115645	7013338	10142	15250										
SIGLEC5	8778	hgsc.bcm.edu	37	chr19	52130488	52130488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggaaccactcctgtcccGaggttcgatctccctgcaga	10	15	1	1	rs17740650	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52130488G>A	ENST00000534261.2	-	8	1695	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	SIGLEC5_ENST00000570106.2_Silent_p.L432L|SIGLEC5_ENST00000222107.4_Silent_p.L432L|SIGLEC5_ENST00000599649.1_Silent_p.L432L|SIGLEC5_ENST00000429354.3_Silent_p.L432L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	432					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCCTGTCCCGAGGTTCGATC	0.557													G|||	1226	0.244808	0.1392	0.1599	5008	,	,		19796	0.6329		0.1133	False		,,,				2504	0.183				p.L432L		Atlas-SNP	.											.	SIGLEC5	67	.	0			c.C1296T						PASS	.	G		652,3754	279.3+/-274.7	43,566,1594	97	84	88		1296	-0.2	0	19	dbSNP_123	88	939,7661	205.9+/-248.2	53,833,3414	no	coding-synonymous	SIGLEC5	NM_003830.2		96,1399,5008	AA,AG,GG		10.9186,14.798,12.2328		432/552	52130488	1591,11415	2203	4300	6503	SO:0001819	synonymous_variant	8778	exon7			TGTCCCGAGGTTC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1296C>T	19.37:g.52130488G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	60	26	0.433333	NM_003830		Silent	SNP	ENST00000534261.2	37	CCDS33088.1																																																																																			G|0.811;A|0.188	0.188	strong		0.557	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52130488	G	A	52130488	2	1	22	1	0	0	0	0	0	0	0	1	14311	1045	37	1		1	SIGLEC5	19	52130488	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14843	52130488	6998495	10143	15251										
SIGLEC5	8778	hgsc.bcm.edu	37	chr19	52131119	52131119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattcagaaaaatttgcaggAagcccagcgggtgctgagcg	14	8	1	2	rs2278831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52131119A>G	ENST00000534261.2	-	6	1364	c.965T>C	c.(964-966)tTc>tCc	p.F322S	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.F322S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F322S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F322S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F322S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	322	Ig-like C2-type 2.		F -> S (in dbSNP:rs2278831).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AATTTGCAGGAAGCCCAGCGG	0.547													A|||	478	0.0954473	0.0983	0.0692	5008	,	,		17551	0.1419		0.0676	False		,,,				2504	0.091				p.F322S		Atlas-SNP	.											.	SIGLEC5	67	.	0			c.T965C						PASS	.	A	SER/PHE	393,4013		13,367,1823	30	35	33		965	2.8	0.8	19	dbSNP_100	33	646,7954		28,590,3682	yes	missense	SIGLEC5	NM_003830.2	155	41,957,5505	GG,GA,AA		7.5116,8.9197,7.9886	benign	322/552	52131119	1039,11967	2203	4300	6503	SO:0001583	missense	8778	exon5			TGCAGGAAGCCCA	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.965T>C	19.37:g.52131119A>G	ENSP00000473238:p.Phe322Ser	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	233	0.10668498168498168	57	0.11585365853658537	41	0.1132596685082873	85	0.1486013986013986	50	0.06596306068601583	A	0.363	-0.938499	0.02340	0.089197	0.075116	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.12879	2.64;2.64	3.88	2.84	0.33178	Immunoglobulin-like (1);	0.737030	0.11702	N	0.537799	T	0.00012	0.0000	N	0.00060	-2.34	0.45791	P	0.0013300000000000534	B	0.06786	0.001	B	0.01281	0.0	T	0.38222	-0.9671	9	0.02654	T	1	.	7.8326	0.29351	0.1179:0.0:0.8821:0.0	rs2278831;rs59229972;rs2278831	322	O15389	SIGL5_HUMAN	S	322	ENSP00000222107:F322S;ENSP00000415200:F322S	ENSP00000222107:F322S	F	-	2	0	SIGLEC5	56822931	0.891000	0.30450	0.836000	0.33094	0.029000	0.11900	0.734000	0.26101	0.968000	0.38212	-0.251000	0.11542	TTC	A|0.913;G|0.087	0.087	strong		0.547	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		G	52131119	A	G	52131119	3	3	22	1	0	0	0	0	1	0	0	0	14311	246	9	2	710	2	SIGLEC5	19	52131119	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	631	52131119	6997864	10144	15252										
HAS1	3036	hgsc.bcm.edu	37	chr19	52222552	52222552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgccacgcacacgcacctGcgagtcctcaccagcgcctc	9	20	1	0	rs11084112	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52222552G>A	ENST00000222115.1	-	2	643	c.609C>T	c.(607-609)cgC>cgT	p.R203R	HAS1_ENST00000540069.2_Silent_p.R202R|HAS1_ENST00000594621.1_Silent_p.R57R|HAS1_ENST00000601714.1_Silent_p.R210R	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	203					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R203R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACACGCACCTGCGAGTCCTCA	0.706													g|||	1797	0.358826	0.4206	0.4251	5008	,	,		14038	0.2113		0.334	False		,,,				2504	0.4059				p.R203R	NSCLC(132;636 2450 45807 47979)	Atlas-SNP	.											HAS1,NS,lymphoid_neoplasm,0,1	HAS1	61	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C609T						PASS	.	G		1890,2514		429,1032,741	29	27	28		609	1.3	0.9	19	dbSNP_120	28	2798,5784		448,1902,1941	no	coding-synonymous	HAS1	NM_001523.2		877,2934,2682	AA,AG,GG		32.6031,42.9155,36.1004		203/579	52222552	4688,8298	2202	4291	6493	SO:0001819	synonymous_variant	3036	exon2			GCACCTGCGAGTC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.609C>T	19.37:g.52222552G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																			G|0.658;A|0.342	0.342	strong		0.706	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52222552	G	A	52222552	2	1	22	1	0	0	0	0	0	0	0	1	6961	1306	46	2		2	HAS1	19	52222552	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91433	52222552	6906431	10145	15253										
HAS1	3036	hgsc.bcm.edu	37	chr19	52223026	52223026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtagcgatcggaggccagCggcaccccggcggcgtaggc	17	15	0	0	rs61736497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52223026C>A	ENST00000222115.1	-	2	169	c.135G>T	c.(133-135)ccG>ccT	p.P45P	HAS1_ENST00000594621.1_5'Flank|HAS1_ENST00000601714.1_Silent_p.P52P|HAS1_ENST00000540069.2_Silent_p.P44P	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	45					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGAGGCCAGCGGCACCCCGG	0.711													c|||	271	0.0541134	0.1891	0.0202	5008	,	,		12432	0.0		0.003	False		,,,				2504	0.0041				p.P45P	NSCLC(132;636 2450 45807 47979)	Atlas-SNP	.											.	HAS1	61	.	0			c.G135T						PASS	.	C		634,3594		36,562,1516	5	7	6		135	-6.3	1	19	dbSNP_129	6	8,8282		0,8,4137	no	coding-synonymous	HAS1	NM_001523.2		36,570,5653	AA,AC,CC		0.0965,14.9953,5.1286		45/579	52223026	642,11876	2114	4145	6259	SO:0001819	synonymous_variant	3036	exon2			GGCCAGCGGCACC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.135G>T	19.37:g.52223026C>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	27	16	0.592593	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																			C|0.947;A|0.053	0.053	strong		0.711	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52223026	C	A	52223026	2	1	22	1	0	0	0	0	0	0	0	1	6961	755	27	4		4	HAS1	19	52223026	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	474	52223026	6905957	10146	15254										
FPR1	2357	hgsc.bcm.edu	37	chr19	52249672	52249672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaacatggcaacggccacAtttatcctctctttagggtc	8	12	2	0	rs1042229	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52249672A>C	ENST00000595042.1	-	3	717	c.576T>G	c.(574-576)aaT>aaG	p.N192K	FPR1_ENST00000304748.4_Missense_Mutation_p.N192K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	192			N -> K (in dbSNP:rs1042229). {ECO:0000269|PubMed:1612600, ECO:0000269|Ref.7}.		activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.N192N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAACGGCCACATTTATCCTCT	0.498													C|||	1831	0.365615	0.4879	0.2882	5008	,	,		21616	0.2917		0.3588	False		,,,				2504	0.3384				p.N192K		Atlas-SNP	.											FPR1,NS,carcinoma,0,1	FPR1	64	1	1	Substitution - coding silent(1)	stomach(1)	c.T576G						PASS	.	C	LYS/ASN,LYS/ASN	2231,2175		528,1175,500	118	109	112		576,576	1.5	0	19	dbSNP_86	112	3403,5197		522,2359,1419	yes	missense,missense	FPR1	NM_001193306.1,NM_002029.3	94,94	1050,3534,1919	CC,CA,AA		39.5698,49.3645,43.3185	benign,benign	192/351,192/351	52249672	5634,7372	2203	4300	6503	SO:0001583	missense	2357	exon3			GGCCACATTTATC	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.576T>G	19.37:g.52249672A>C	ENSP00000471493:p.Asn192Lys	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	44	18	0.409091	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	879	0.4024725274725275	240	0.4878048780487805	139	0.3839779005524862	203	0.3548951048951049	297	0.391820580474934	.	0.033	-1.321458	0.01320	0.506355	0.395698	ENSG00000171051	ENST00000304748	T	0.61040	0.14	3.66	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.550741	0.14764	N	0.299814	T	0.00012	0.0000	N	0.01482	-0.84	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.43426	-0.9392	9	0.02654	T	1	.	3.6023	0.08030	0.1799:0.5269:0.0:0.2932	rs1042229;rs52821418;rs1042229	192	P21462	FPR1_HUMAN	K	192	ENSP00000302707:N192K	ENSP00000302707:N192K	N	-	3	2	FPR1	56941484	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.000000	0.12993	0.009000	0.14813	-0.121000	0.15023	AAT	G|0.018;C|0.428;A|0.554	0.428	strong		0.498	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		C	52249672	A	C	52249672	3	2	22	1	0	0	0	0	1	0	0	0	6038	214	8	5	480	5	FPR1	19	52249672	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26646	52249672	6879311	10147	15255			35	64	3943941	5	5	545	N	G_C_A	5.022243e-05
FPR1	2357	hgsc.bcm.edu	37	chr19	52249702	52249702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttagggtcgttggtccaGggcgaaaagttaaaagtgca	13	6	1	0	rs2070746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52249702G>T	ENST00000595042.1	-	3	687	c.546C>A	c.(544-546)ccC>ccA	p.P182P	FPR1_ENST00000304748.4_Silent_p.P182P	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	182					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CGTTGGTCCAGGGCGAAAAGT	0.517													G|||	1758	0.351038	0.3215	0.4164	5008	,	,		21166	0.4484		0.2763	False		,,,				2504	0.3211				p.P182P		Atlas-SNP	.											.	FPR1	64	.	0			c.C546A						PASS	.	G	,	1314,3092		198,918,1087	103	97	99		546,546	2.6	0.7	19	dbSNP_96	99	2446,6154		332,1782,2186	no	coding-synonymous,coding-synonymous	FPR1	NM_001193306.1,NM_002029.3	,	530,2700,3273	TT,TG,GG		28.4419,29.823,28.9097	,	182/351,182/351	52249702	3760,9246	2203	4300	6503	SO:0001819	synonymous_variant	2357	exon3			GGTCCAGGGCGAA	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.546C>A	19.37:g.52249702G>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	53	33	0.622642	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	CCDS12839.1																																																																																			G|0.682;T|0.318	0.318	strong		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		T	52249702	G	T	52249702	2	4	22	1	0	0	0	0	0	0	0	1	6038	987	35	4		4	FPR1	19	52249702	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30	52249702	6879281	10148	15256			35	64	3943941	5	5	545	N	G_C_A	5.022243e-05
FPR1	2357	hgsc.bcm.edu	37	chr19	52249900	52249900	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtccagagcaatgagggcGatcaggaagacacttccgaa	13	10	1	3	rs5030879	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52249900G>A	ENST00000595042.1	-	3	489	c.348C>T	c.(346-348)atC>atT	p.I116I	FPR1_ENST00000304748.4_Silent_p.I116I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	116					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAATGAGGGCGATCAGGAAGA	0.552													G|||	506	0.101038	0.3487	0.0403	5008	,	,		21499	0.002		0.003	False		,,,				2504	0.0123				p.I116I		Atlas-SNP	.											FPR1,colon,carcinoma,0,1	FPR1	64	1	0			c.C348T						PASS	.	G	,	1279,3127		191,897,1115	116	90	98		348,348	-3.7	0.3	19	dbSNP_113	98	38,8562		0,38,4262	no	coding-synonymous,coding-synonymous	FPR1	NM_001193306.1,NM_002029.3	,	191,935,5377	AA,AG,GG		0.4419,29.0286,10.1261	,	116/351,116/351	52249900	1317,11689	2203	4300	6503	SO:0001819	synonymous_variant	2357	exon3			GAGGGCGATCAGG	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.348C>T	19.37:g.52249900G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	CCDS12839.1																																																																																			G|0.895;A|0.105	0.105	strong		0.552	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52249900	G	A	52249900	2	1	22	1	0	0	0	0	0	0	0	1	6038	1048	37	1		1	FPR1	19	52249900	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	198	52249900	6879083	10149	15257			35	64	3943941	5	5	545	N	G_C_A	5.022243e-05
FPR1	2357	hgsc.bcm.edu	37	chr19	52249947	52249947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtccactatggtaaagaCgaatttgcacaggaaccagc	10	9	0	1	rs2070745	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52249947C>G	ENST00000595042.1	-	3	442	c.301G>C	c.(301-303)Gtc>Ctc	p.V101L	FPR1_ENST00000304748.4_Missense_Mutation_p.V101L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	101			V -> L (in dbSNP:rs2070745). {ECO:0000269|PubMed:2161213, ECO:0000269|PubMed:2176894}.		activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.V101L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATGGTAAAGACGAATTTGCAC	0.532													T|||	1972	0.39377	0.3086	0.4986	5008	,	,		22085	0.4861		0.3718	False		,,,				2504	0.362				p.V101L		Atlas-SNP	.											FPR1,colon,carcinoma,0,2	FPR1	64	2	1	Substitution - Missense(1)	stomach(1)	c.G301C	GRCh37	CM074876	FPR1	M	rs2070745	PASS	.	T	LEU/VAL,LEU/VAL	1389,3017		220,949,1034	135	104	114		301,301	-2	0	19	dbSNP_96	114	3075,5525		534,2007,1759	yes	missense,missense	FPR1	NM_001193306.1,NM_002029.3	32,32	754,2956,2793	GG,GC,CC		35.7558,31.5252,34.3226	benign,benign	101/351,101/351	52249947	4464,8542	2203	4300	6503	SO:0001583	missense	2357	exon3			TAAAGACGAATTT	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.301G>C	19.37:g.52249947C>G	ENSP00000471493:p.Val101Leu	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	160	81	0.50625	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	854	0.391025641025641	128	0.2601626016260163	167	0.4613259668508287	270	0.47202797202797203	289	0.3812664907651715	.	0.026	-1.368558	0.01225	0.315252	0.357558	ENSG00000171051	ENST00000304748	T	0.36699	1.24	3.66	-2.04	0.07343	GPCR, rhodopsin-like superfamily (1);	0.146450	0.44097	D	0.000486	T	0.00012	0.0000	L	0.59912	1.85	0.80722	P	0.0	B	0.06786	0.001	B	0.18871	0.023	T	0.46735	-0.9170	9	0.19147	T	0.46	.	3.4324	0.07433	0.2884:0.3276:0.0:0.3839	rs2070745;rs17717709;rs52831811;rs2070745	101	P21462	FPR1_HUMAN	L	101	ENSP00000302707:V101L	ENSP00000302707:V101L	V	-	1	0	FPR1	56941759	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.065000	0.14466	-0.599000	0.05798	-0.254000	0.11334	GTC	C|0.644;G|0.356	0.356	strong		0.532	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		G	52249947	C	G	52249947	3	3	22	1	0	0	0	0	1	0	0	0	6038	536	19	4	755	4	FPR1	19	52249947	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47	52249947	6879036	10150	15258			35	64	3943941	5	5	545	N	G_C_A	5.022243e-05
FPR1	2357	hgsc.bcm.edu	37	chr19	52250216	52250216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggtgtccctccagagAtgttcgtggggagagaggaa	16	8	0	2	rs5030878	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52250216A>G	ENST00000595042.1	-	3	173	c.32T>C	c.(31-33)aTc>aCc	p.I11T	FPR1_ENST00000304748.4_Missense_Mutation_p.I11T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	11			I -> T (in dbSNP:rs5030878). {ECO:0000269|Ref.7}.		activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCCTCCAGAGATGTTCGTGGG	0.502													A|||	4177	0.834065	0.7852	0.7896	5008	,	,		20800	0.9613		0.7684	False		,,,				2504	0.8681				p.I11T		Atlas-SNP	.											.	FPR1	64	.	0			c.T32C	GRCh37	CM074875	FPR1	M	rs5030878	PASS	.	A	THR/ILE,THR/ILE	3488,918		1370,748,85	58	56	57		32,32	-6.9	0	19	dbSNP_113	57	6559,2041		2506,1547,247	yes	missense,missense	FPR1	NM_001193306.1,NM_002029.3	89,89	3876,2295,332	GG,GA,AA		23.7326,20.8352,22.751	benign,benign	11/351,11/351	52250216	10047,2959	2203	4300	6503	SO:0001583	missense	2357	exon3			CCAGAGATGTTCG	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.32T>C	19.37:g.52250216A>G	ENSP00000471493:p.Ile11Thr	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	227	117	0.515419	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	1805	0.8264652014652014	377	0.766260162601626	290	0.8011049723756906	549	0.9597902097902098	589	0.7770448548812665	.	5.381	0.255528	0.10185	0.791648	0.762674	ENSG00000171051	ENST00000304748	T	0.37752	1.18	3.62	-6.88	0.01665	.	2.217780	0.02646	N	0.105855	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.13594	0.008	B	0.15484	0.013	T	0.28364	-1.0046	9	0.14252	T	0.57	.	0.3369	0.00327	0.245:0.2994:0.1958:0.2598	rs5030878;rs5030878	11	P21462	FPR1_HUMAN	T	11	ENSP00000302707:I11T	ENSP00000302707:I11T	I	-	2	0	FPR1	56942028	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.070000	0.01380	-1.802000	0.01244	0.533000	0.62120	ATC	A|0.201;G|0.799	0.799	strong		0.502	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		G	52250216	A	G	52250216	3	3	22	1	0	0	0	0	1	0	0	0	6038	333	12	2	1024	2	FPR1	19	52250216	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	269	52250216	6878767	10151	15259			35	64	3943941	5	5	545	N	G_C_A	5.022243e-05
ZNF577	84765	hgsc.bcm.edu	37	chr19	52375809	52375809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgatacaatatctgtaagAtacaagatataatttattac	4	5	2	3	rs142094475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52375809A>G	ENST00000301399.5	-	7	1799	c.1434T>C	c.(1432-1434)taT>taC	p.Y478Y	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.Y419Y|ZNF577_ENST00000451628.2_Silent_p.Y419Y	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATCTGTAAGATACAAGATAT	0.353													A|||	8	0.00159744	0.0023	0.0072	5008	,	,		19580	0.0		0.0	False		,,,				2504	0.0				p.Y478Y		Atlas-SNP	.											.	ZNF577	63	.	0			c.T1434C						PASS	.	A	,	19,4385		0,19,2183	40	40	40		1257,1434	1.9	0	19	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF577	NM_001135590.1,NM_032679.2	,	0,19,6483	GG,GA,AA		0.0,0.4314,0.1461	,	419/427,478/486	52375809	19,12985	2202	4300	6502	SO:0001819	synonymous_variant	84765	exon7			TGTAAGATACAAG	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1434T>C	19.37:g.52375809A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	56	26	0.464286	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	CCDS12842.2																																																																																			A|0.998;G|0.002	0.002	strong		0.353	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		G	52375809	A	G	52375809	2	3	22	1	0	0	0	0	0	0	0	1	18006	340	12	2		2	ZNF577	19	52375809	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	125593	52375809	6753174	10152	15260			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376040	52376040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttgctcttgtatgagttcGctcatgtataaggaggtatg	11	5	2	1	rs10407707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376040G>A	ENST00000301399.5	-	7	1568	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.S342S|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.S342S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTATGAGTTCGCTCATGTATA	0.443													A|||	854	0.170527	0.295	0.1427	5008	,	,		19180	0.0427		0.0358	False		,,,				2504	0.2924				p.S401S		Atlas-SNP	.											.	ZNF577	63	.	0			c.C1203T						PASS	.	A	,	1177,3229		167,843,1193	109	115	113		1026,1203	-0.6	0	19	dbSNP_119	113	165,8435		1,163,4136	no	coding-synonymous,coding-synonymous	ZNF577	NM_001135590.1,NM_032679.2	,	168,1006,5329	AA,AG,GG		1.9186,26.7136,10.3183	,	342/427,401/486	52376040	1342,11664	2203	4300	6503	SO:0001819	synonymous_variant	84765	exon7			GAGTTCGCTCATG	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1203C>T	19.37:g.52376040G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	113	48	0.424779	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	CCDS12842.2																																																																																			G|0.892;A|0.108	0.108	strong		0.443	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376040	G	A	52376040	2	1	22	1	0	0	0	0	0	0	0	1	18006	1078	38	1		1	ZNF577	19	52376040	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	231	52376040	6752943	10153	15261			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376119	52376119	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgtctctcttatgtgaGttttctcatgtttaatgagg					rs10407911	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376119G>A	ENST00000301399.5	-	7	1489	c.1124C>T	c.(1123-1125)aCt>aTt	p.T375I	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.T316I|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.T316I	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	375			T -> I (in dbSNP:rs10407911).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTTATGTGAGTTTTCTCATG	0.438													G|||	781	0.15595	0.2436	0.1354	5008	,	,		19775	0.0427		0.0358	False		,,,				2504	0.2924				p.T375I		Atlas-SNP	.											.	ZNF577	63	.	0			c.C1124T						PASS	.	G	ILE/THR,ILE/THR	899,3507		97,705,1401	91	97	95		947,1124	-1.5	0	19	dbSNP_119	95	162,8438		1,160,4139	yes	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	89,89	98,865,5540	AA,AG,GG		1.8837,20.404,8.1578	benign,benign	316/427,375/486	52376119	1061,11945	2203	4300	6503	SO:0001583	missense	84765	exon7			ATGTGAGTTTTCT	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1124C>T	19.37:g.52376119G>A	ENSP00000301399:p.Thr375Ile	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	117	47	0.401709	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	202	0.0924908424908425	103	0.20934959349593496	47	0.1298342541436464	25	0.043706293706293704	27	0.03562005277044855	.	0.003	-2.529336	0.00147	0.20404	0.018837	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06142	3.34;3.34;3.34;3.34	3.06	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.25647	0.755	0.47341	P	6.009999999999627E-4	B;B	0.16166	0.016;0.005	B;B	0.10450	0.003;0.005	T	0.45789	-0.9237	8	0.02654	T	1	.	8.2631	0.31797	0.4153:0.0:0.5847:0.0	rs10407911;rs10407911	375;316	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	I	375;316;316;375	ENSP00000301399:T375I;ENSP00000413476:T316I;ENSP00000389652:T316I;ENSP00000404509:T375I	ENSP00000301399:T375I	T	-	2	0	ZNF577	57067931	0.000000	0.05858	0.002000	0.10522	0.272000	0.26649	-0.348000	0.07740	-0.115000	0.11915	-0.742000	0.03525	ACT	G|0.909;A|0.091	0.091	strong		0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376119	G	A	52376119	3	1	22	1	0	0	0	0	1	0	0	0	18006	1029	36	2	337	2	ZNF577	19	52376119	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	79	52376119	6752864	10154	15262	316	2	36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376126	52376126	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcttatgtgagttttctCatgtttaatgaggactgaca					rs10407547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376126C>T	ENST00000301399.5	-	7	1482	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E314K|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.E314K	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	373			E -> K (in dbSNP:rs10407547).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAGTTTTCTCATGTTTAATG	0.443													T|||	853	0.170327	0.2943	0.1427	5008	,	,		20105	0.0427		0.0358	False		,,,				2504	0.2924				p.E373K		Atlas-SNP	.											ZNF577,NS,carcinoma,+2,1	ZNF577	63	1	0			c.G1117A						PASS	.	T	LYS/GLU,LYS/GLU	1174,3232		166,842,1195	88	93	91		940,1117	0.6	0	19	dbSNP_119	91	165,8435		1,163,4136	yes	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	56,56	167,1005,5331	TT,TC,CC		1.9186,26.6455,10.2952	benign,benign	314/427,373/486	52376126	1339,11667	2203	4300	6503	SO:0001583	missense	84765	exon7			TTTTCTCATGTTT	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1117G>A	19.37:g.52376126C>T	ENSP00000301399:p.Glu373Lys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	121	47	0.38843	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	219	0.10027472527472528	117	0.23780487804878048	50	0.13812154696132597	25	0.043706293706293704	27	0.03562005277044855	.	3.005	-0.205122	0.06180	0.266455	0.019186	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	3.06	0.647	0.17796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00483	-1.445	0.54753	P	1.0999999999983245E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34453	-0.9828	8	0.39692	T	0.17	.	4.5198	0.11954	0.0:0.2481:0.3579:0.394	rs10407547;rs52794334;rs10407547	373;314	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	K	373;314;314;373	ENSP00000301399:E373K;ENSP00000413476:E314K;ENSP00000389652:E314K;ENSP00000404509:E373K	ENSP00000301399:E373K	E	-	1	0	ZNF577	57067938	0.000000	0.05858	0.003000	0.11579	0.301000	0.27625	-0.180000	0.09754	-0.011000	0.14247	-0.254000	0.11334	GAG	C|0.892;T|0.108	0.108	strong		0.443	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		T	52376126	C	T	52376126	3	4	22	1	0	0	0	0	1	0	0	0	18006	835	29	2	344	2	ZNF577	19	52376126	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7	52376126	6752857	10155	15263	316	2	36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376172	52376172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaaggctttgccacattcTctgcatgaatatggtctctc	8	11	2	1	rs9807853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376172T>A	ENST00000301399.5	-	7	1436	c.1071A>T	c.(1069-1071)agA>agT	p.R357S	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.R298S|ZNF577_ENST00000451628.2_Missense_Mutation_p.R298S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	357			R -> S (in dbSNP:rs9807853).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCCACATTCTCTGCATGAAT	0.428													g|||	853	0.170327	0.2943	0.1427	5008	,	,		21581	0.0427		0.0358	False		,,,				2504	0.2924				p.R357S		Atlas-SNP	.											ZNF577,bladder,carcinoma,-1,1	ZNF577	63	1	0			c.A1071T						PASS	.	A	SER/ARG,SER/ARG	1178,3228		167,844,1192	77	75	76		894,1071	-2.1	0.1	19	dbSNP_119	76	165,8435		1,163,4136	yes	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	110,110	168,1007,5328	AA,AT,TT		1.9186,26.7363,10.326	benign,benign	298/427,357/486	52376172	1343,11663	2203	4300	6503	SO:0001583	missense	84765	exon7			ACATTCTCTGCAT	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1071A>T	19.37:g.52376172T>A	ENSP00000301399:p.Arg357Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	219	0.10027472527472528	117	0.23780487804878048	50	0.13812154696132597	25	0.043706293706293704	27	0.03562005277044855	.	0.001	-3.245965	0.00022	0.267363	0.019186	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	2.95	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.01277	-0.915	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41787	-0.9489	8	0.09338	T	0.73	.	2.018	0.03502	0.4662:0.1274:0.2809:0.1255	rs9807853;rs52829822;rs9807853	357;298	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	S	357;298;298;357	ENSP00000301399:R357S;ENSP00000413476:R298S;ENSP00000389652:R298S;ENSP00000404509:R357S	ENSP00000301399:R357S	R	-	3	2	ZNF577	57067984	0.000000	0.05858	0.097000	0.21041	0.396000	0.30629	-3.994000	0.00318	-0.801000	0.04427	-2.196000	0.00310	AGA	T|0.898;A|0.102	0.102	strong		0.428	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376172	T	A	52376172	3	1	22	1	0	0	0	0	1	0	0	0	18006	1548	54	5	390	5	ZNF577	19	52376172	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46	52376172	6752811	10156	15264			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376207	52376207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctctccagtgtgagtacGctgatgctgaatgagcttcg	11	10	2	4	rs9807842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376207G>A	ENST00000301399.5	-	7	1401	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.R287C|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R287C	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	346			R -> C (in dbSNP:rs9807842).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGTGAGTACGCTGATGCTGA	0.438													G|||	854	0.170527	0.2943	0.1427	5008	,	,		21986	0.0437		0.0358	False		,,,				2504	0.2924				p.R346C		Atlas-SNP	.											ZNF577,NS,lymphoid_neoplasm,+1,1	ZNF577	63	1	0			c.C1036T						PASS	.	G	CYS/ARG,CYS/ARG	1178,3228		167,844,1192	70	67	68		859,1036	-3.2	0.2	19	dbSNP_119	68	165,8435		1,163,4136	yes	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	180,180	168,1007,5328	AA,AG,GG		1.9186,26.7363,10.326	probably-damaging,probably-damaging	287/427,346/486	52376207	1343,11663	2203	4300	6503	SO:0001583	missense	84765	exon7			GAGTACGCTGATG	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1036C>T	19.37:g.52376207G>A	ENSP00000301399:p.Arg346Cys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	219	0.10027472527472528	117	0.23780487804878048	50	0.13812154696132597	25	0.043706293706293704	27	0.03562005277044855	.	12.93	2.085599	0.36758	0.267363	0.019186	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	2.95	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.92169	3.28	0.51233	P	8.500000000000174E-5	D;D	0.76494	0.999;0.999	P;P	0.57960	0.83;0.797	T	0.05818	-1.0862	8	0.87932	D	0	.	6.6383	0.22895	0.0:0.4074:0.194:0.3987	rs9807842;rs52803741;rs58621483;rs9807842	346;287	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	C	346;287;287;346	ENSP00000301399:R346C;ENSP00000413476:R287C;ENSP00000389652:R287C;ENSP00000404509:R346C	ENSP00000301399:R346C	R	-	1	0	ZNF577	57068019	0.000000	0.05858	0.161000	0.22692	0.337000	0.28794	-1.030000	0.03581	-0.269000	0.09298	-0.175000	0.13238	CGT	G|0.891;A|0.109	0.109	strong		0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376207	G	A	52376207	3	1	22	1	0	0	0	0	1	0	0	0	18006	1087	38	1	425	1	ZNF577	19	52376207	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35	52376207	6752776	10157	15265			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376226	52376226	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgatgctgaatgagcttCgacttgcttctaaaggcttt	10	9	1	3	rs9807840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376226C>T	ENST00000301399.5	-	7	1382	c.1017G>A	c.(1015-1017)tcG>tcA	p.S339S	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.S280S|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.S280S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GAATGAGCTTCGACTTGCTTC	0.438													C|||	853	0.170327	0.2943	0.1427	5008	,	,		22276	0.0427		0.0358	False		,,,				2504	0.2924				p.S339S		Atlas-SNP	.											.	ZNF577	63	.	0			c.G1017A						PASS	.	C	,	1178,3228		167,844,1192	71	66	68		840,1017	-0.7	0	19	dbSNP_119	68	164,8436		1,162,4137	no	coding-synonymous,coding-synonymous	ZNF577	NM_001135590.1,NM_032679.2	,	168,1006,5329	TT,TC,CC		1.907,26.7363,10.3183	,	280/427,339/486	52376226	1342,11664	2203	4300	6503	SO:0001819	synonymous_variant	84765	exon7			GAGCTTCGACTTG	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1017G>A	19.37:g.52376226C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	CCDS12842.2																																																																																			C|0.891;T|0.109	0.109	strong		0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		T	52376226	C	T	52376226	2	4	22	1	0	0	0	0	0	0	0	1	18006	871	31	1		1	ZNF577	19	52376226	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	52376226	6752757	10158	15266			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376434	52376434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccacacacactgcacccaTagagtttctctccagtatgt	5	15	1	1	rs34295271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376434T>C	ENST00000301399.5	-	7	1174	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.Y211C|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.Y211C	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACTGCACCCATAGAGTTTCTC	0.483													T|||	546	0.109026	0.0764	0.1153	5008	,	,		20978	0.0427		0.0358	False		,,,				2504	0.2924				p.Y270C		Atlas-SNP	.											.	ZNF577	63	.	0			c.A809G						PASS	.	T	CYS/TYR,CYS/TYR	293,4113		12,269,1922	64	59	61		632,809	-0.6	0	19	dbSNP_126	61	160,8440		1,158,4141	yes	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	194,194	13,427,6063	CC,CT,TT		1.8605,6.65,3.483	probably-damaging,probably-damaging	211/427,270/486	52376434	453,12553	2203	4300	6503	SO:0001583	missense	84765	exon7			CACCCATAGAGTT	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.809A>G	19.37:g.52376434T>C	ENSP00000301399:p.Tyr270Cys	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	30	0.352941	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	117	0.05357142857142857	26	0.052845528455284556	39	0.10773480662983426	25	0.043706293706293704	27	0.03562005277044855	.	3.636	-0.074610	0.07184	0.0665	0.018605	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	3.1	-0.56	0.11789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	M	0.86097	2.795	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.927;0.996	T	0.01557	-1.1325	9	0.87932	D	0	.	4.6071	0.12383	0.4289:0.0:0.296:0.275	rs34295271	270;211	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	C	270;211;211;270	ENSP00000301399:Y270C;ENSP00000413476:Y211C;ENSP00000389652:Y211C;ENSP00000404509:Y270C	ENSP00000301399:Y270C	Y	-	2	0	ZNF577	57068246	0.004000	0.15560	0.001000	0.08648	0.025000	0.11179	0.487000	0.22356	-0.383000	0.07858	-2.316000	0.00254	TAT	T|0.960;C|0.040	0.040	strong		0.483	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		C	52376434	T	C	52376434	3	2	22	1	0	0	0	0	1	0	0	0	18006	1406	49	2	652	2	ZNF577	19	52376434	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	208	52376434	6752549	10159	15267			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF577	84765	hgsc.bcm.edu	37	chr19	52376448	52376448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacccatagagtttctctccAgtatgtgatcgctgatgtct	8	11	2	3	rs9807843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52376448A>G	ENST00000301399.5	-	7	1160	c.795T>C	c.(793-795)acT>acC	p.T265T	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.T206T|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.T206T	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTCTCTCCAGTATGTGATC	0.488													A|||	854	0.170527	0.295	0.1427	5008	,	,		20808	0.0427		0.0358	False		,,,				2504	0.2924				p.T265T		Atlas-SNP	.											.	ZNF577	63	.	0			c.T795C						PASS	.	A	,	1178,3228		167,844,1192	62	58	59		618,795	-0.4	0.1	19	dbSNP_119	59	165,8435		1,163,4136	no	coding-synonymous,coding-synonymous	ZNF577	NM_001135590.1,NM_032679.2	,	168,1007,5328	GG,GA,AA		1.9186,26.7363,10.326	,	206/427,265/486	52376448	1343,11663	2203	4300	6503	SO:0001819	synonymous_variant	84765	exon7			CTCTCCAGTATGT	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.795T>C	19.37:g.52376448A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	91	34	0.373626	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	CCDS12842.2																																																																																			A|0.899;G|0.101	0.101	strong		0.488	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		G	52376448	A	G	52376448	2	3	22	1	0	0	0	0	0	0	0	1	18006	175	7	3		3	ZNF577	19	52376448	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14	52376448	6752535	10160	15268			36	65	125593	9	8	640	N	T_G_C_A	5.059744e-09
ZNF613	79898	hgsc.bcm.edu	37	chr19	52448669	52448669	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcatacaggggagagaccGtatggatgctctgattgtgg	14	7	2	2	rs11880193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52448669G>C	ENST00000293471.6	+	6	2212	c.1533G>C	c.(1531-1533)ccG>ccC	p.P511P	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Silent_p.P475P	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGGAGAGACCGTATGGATGCT	0.448													C|||	1011	0.201877	0.3654	0.1225	5008	,	,		23946	0.0317		0.1074	False		,,,				2504	0.3098				p.P511P		Atlas-SNP	.											.	ZNF613	62	.	0			c.G1533C						PASS	.	C	,	1287,3119	699.8+/-406.5	175,937,1091	98	76	84		1533,1425	-0.6	0.4	19	dbSNP_120	84	943,7657	776.0+/-407.7	58,827,3415	no	coding-synonymous,coding-synonymous	ZNF613	NM_001031721.3,NM_024840.3	,	233,1764,4506	CC,CG,GG		10.9651,29.2102,17.1459	,	511/618,475/582	52448669	2230,10776	2203	4300	6503	SO:0001819	synonymous_variant	79898	exon6			GAGACCGTATGGA	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1533G>C	19.37:g.52448669G>C		Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	150	150	1	NM_001031721	Q96SS9	Silent	SNP	ENST00000293471.6	37	CCDS33089.1																																																																																			G|0.841;C|0.159	0.159	strong		0.448	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		C	52448669	G	C	52448669	2	2	22	1	0	0	0	0	0	0	0	1	18035	1132	40	4		4	ZNF613	19	52448669	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72221	52448669	6680314	10161	15269										
ZNF614	80110	hgsc.bcm.edu	37	chr19	52520518	52520518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgctgagatgtacaatattTctaagtgtattctgtccatt	7	6	2	1	rs73934728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52520518T>C	ENST00000270649.6	-	5	877	c.333A>G	c.(331-333)agA>agG	p.R111R	ZNF614_ENST00000356322.6_Silent_p.R111R	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	111					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(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTACAATATTTCTAAGTGTAT	0.358													T|||	241	0.048123	0.121	0.0317	5008	,	,		18990	0.006		0.0408	False		,,,				2504	0.0123				p.R111R		Atlas-SNP	.											.	ZNF614	58	.	0			c.A333G						PASS	.	T		400,4006	196.7+/-221.0	13,374,1816	86	82	83		333	2.8	0.5	19	dbSNP_130	83	217,8383	89.4+/-151.6	2,213,4085	no	coding-synonymous	ZNF614	NM_025040.3		15,587,5901	CC,CT,TT		2.5233,9.0785,4.744		111/586	52520518	617,12389	2203	4300	6503	SO:0001819	synonymous_variant	80110	exon5			AATATTTCTAAGT	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.333A>G	19.37:g.52520518T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	150	87	0.58	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	CCDS12847.1																																																																																			T|0.949;C|0.051	0.051	strong		0.358	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		C	52520518	T	C	52520518	2	2	22	1	0	0	0	0	0	0	0	1	18036	1780	62	2		2	ZNF614	19	52520518	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	71849	52520518	6608465	10162	15270										
ZNF432	9668	hgsc.bcm.edu	37	chr19	52538278	52538278	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctcatgatcagtgagctgAgacttcttgacaaacgcttt	8	10	3	4	rs6509616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52538278A>C	ENST00000594154.1	-	5	866	c.654T>G	c.(652-654)tcT>tcG	p.S218S	ZNF432_ENST00000221315.5_Silent_p.S218S			O94892	ZN432_HUMAN	zinc finger protein 432	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGTGAGCTGAGACTTCTTGA	0.403													A|||	239	0.0477236	0.1203	0.0317	5008	,	,		19205	0.005		0.0408	False		,,,				2504	0.0123				p.S218S		Atlas-SNP	.											.	ZNF432	172	.	0			c.T654G						PASS	.	A		392,4014	195.7+/-220.2	13,366,1824	107	105	106		654	2	1	19	dbSNP_116	106	217,8383	90.9+/-153.0	2,213,4085	no	coding-synonymous	ZNF432	NM_014650.2		15,579,5909	CC,CA,AA		2.5233,8.897,4.6825		218/653	52538278	609,12397	2203	4300	6503	SO:0001819	synonymous_variant	9668	exon5			GAGCTGAGACTTC	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.654T>G	19.37:g.52538278A>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_014650		Silent	SNP	ENST00000594154.1	37	CCDS12848.1																																																																																			A|0.946;C|0.054	0.054	strong		0.403	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		C	52538278	A	C	52538278	2	2	22	1	0	0	0	0	0	0	0	1	17903	291	11	5		5	ZNF432	19	52538278	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17760	52538278	6590705	10163	15271										
ZNF432	9668	hgsc.bcm.edu	37	chr19	52538428	52538428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaataaagttcttcatagttAccatgaagaaatgatttccc	6	7	2	3	rs11881700	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52538428A>G	ENST00000594154.1	-	5	716	c.504T>C	c.(502-504)ggT>ggC	p.G168G	ZNF432_ENST00000221315.5_Silent_p.G168G			O94892	ZN432_HUMAN	zinc finger protein 432	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTCATAGTTACCATGAAGAA	0.323													A|||	981	0.195887	0.2171	0.1974	5008	,	,		17426	0.124		0.0994	False		,,,				2504	0.3395				p.G168G		Atlas-SNP	.											ZNF432,NS,carcinoma,-1,1	ZNF432	172	1	0			c.T504C						PASS	.	A		952,3452	357.6+/-314.0	104,744,1354	55	54	55		504	0	0	19	dbSNP_120	55	974,7626	210.4+/-251.3	54,866,3380	yes	coding-synonymous	ZNF432	NM_014650.2		158,1610,4734	GG,GA,AA		11.3256,21.6167,14.8108		168/653	52538428	1926,11078	2202	4300	6502	SO:0001819	synonymous_variant	9668	exon5			ATAGTTACCATGA	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.504T>C	19.37:g.52538428A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	121	75	0.619835	NM_014650		Silent	SNP	ENST00000594154.1	37	CCDS12848.1																																																																																			A|0.839;G|0.161	0.161	strong		0.323	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		G	52538428	A	G	52538428	2	3	22	1	0	0	0	0	0	0	0	1	17903	378	14	2		2	ZNF432	19	52538428	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150	52538428	6590555	10164	15272										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52568422	52568422	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccacattgagtttagttgTaaggttctctccagcatgtt	8	8	1	1	rs61743893	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52568422T>G	ENST00000426391.2	-	5	2916	c.2365A>C	c.(2365-2367)Aca>Cca	p.T789P	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.T905P|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Missense_Mutation_p.T481P|ZNF841_ENST00000594295.1_Missense_Mutation_p.T905P			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGTTTAGTTGTAAGGTTCTCT	0.368													T|||	365	0.0728834	0.2057	0.0375	5008	,	,		20962	0.0079		0.0408	False		,,,				2504	0.0184				p.T905P		Atlas-SNP	.											.	ZNF841	183	.	0			c.A2713C						PASS	.	T	PRO/THR	250,1134		18,214,460	273	226	240		2713	0.4	0	19	dbSNP_129	240	79,3103		0,79,1512	yes	missense	ZNF841	NM_001136499.1	38	18,293,1972	GG,GT,TT		2.4827,18.0636,7.2054	possibly-damaging	905/925	52568422	329,4237	692	1591	2283	SO:0001583	missense	284371	exon7			TAGTTGTAAGGTT	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2365A>C	19.37:g.52568422T>G	ENSP00000415453:p.Thr789Pro	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	246	135	0.548781	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		149	0.06822344322344322	99	0.20121951219512196	21	0.058011049723756904	2	0.0034965034965034965	27	0.03562005277044855	T	8.292	0.817953	0.16607	0.180636	0.024827	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.08634	3.46;3.29;3.07	1.54	0.423	0.16463	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.52501	P	4.700000000001925E-5	D;D;P	0.53462	0.96;0.96;0.932	P;B;B	0.53912	0.737;0.354;0.193	T	0.44406	-0.9330	8	0.87932	D	0	.	2.1328	0.03754	0.4255:0.1776:0.0:0.3968	rs61743893	905;481;789	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	P	905;789;481	ENSP00000374185:T905P;ENSP00000415453:T789P;ENSP00000353060:T481P	ENSP00000353060:T481P	T	-	1	0	ZNF841	57260234	0.000000	0.05858	0.006000	0.13384	0.201000	0.24016	-0.294000	0.08309	-0.101000	0.12219	0.260000	0.18958	ACA	T|0.938;G|0.062	0.062	strong		0.368	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		G	52568422	T	G	52568422	3	3	22	1	0	0	0	0	1	0	0	0	18186	1638	57	5	65	5	ZNF841	19	52568422	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29994	52568422	6560561	10165	15273										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52569479	52569479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaccgaaaggtatccaccGtaattaaagaccttgccaca	7	11	0	2	rs61738706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52569479G>A	ENST00000426391.2	-	5	1859	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	ZNF841_ENST00000594295.1_Silent_p.Y552Y|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Silent_p.Y552Y			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTATCCACCGTAATTAAAGA	0.403													g|||	110	0.0219649	0.0772	0.0101	5008	,	,		22430	0.0		0.001	False		,,,				2504	0.0				p.Y552Y		Atlas-SNP	.											.	ZNF841	183	.	0			c.C1656T						PASS	.	A		87,1297		3,81,608	93	81	85		1656	-4.5	0	19	dbSNP_129	85	0,3182		0,0,1591	no	coding-synonymous	ZNF841	NM_001136499.1		3,81,2199	AA,AG,GG		0.0,6.2861,1.9054		552/925	52569479	87,4479	692	1591	2283	SO:0001819	synonymous_variant	284371	exon7			TCCACCGTAATTA	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1308C>T	19.37:g.52569479G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	53	21	0.396226	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																				G|0.979;A|0.021	0.021	strong		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		A	52569479	G	A	52569479	2	1	22	1	0	0	0	0	0	0	0	1	18186	1140	40	1		1	ZNF841	19	52569479	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1057	52569479	6559504	10166	15274										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52570714	52570714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctttccattgaaagtcaaCttcctgtagatttttccgga	6	9	2	2	rs16983412	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52570714C>G	ENST00000426391.2	-	5	624	c.73G>C	c.(73-75)Gtt>Ctt	p.V25L	ZNF841_ENST00000594295.1_Missense_Mutation_p.V141L|ZNF841_ENST00000359973.2_Missense_Mutation_p.V25L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.V141L			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAAAGTCAACTTCCTGTAGA	0.373													G|||	986	0.196885	0.2254	0.1988	5008	,	,		15218	0.121		0.0994	False		,,,				2504	0.3354				p.V141L		Atlas-SNP	.											.	ZNF841	183	.	0			c.G421C						PASS	.	G	LEU/VAL	308,1076		28,252,412	99	75	82		421	-2.1	0	19	dbSNP_123	82	353,2829		20,313,1258	yes	missense	ZNF841	NM_001136499.1	32	48,565,1670	GG,GC,CC		11.0937,22.2543,14.4766	benign	141/925	52570714	661,3905	692	1591	2283	SO:0001583	missense	284371	exon7			AGTCAACTTCCTG	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.73G>C	19.37:g.52570714C>G	ENSP00000415453:p.Val25Leu	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	197	95	0.482233	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		332	0.152014652014652	110	0.22357723577235772	70	0.19337016574585636	78	0.13636363636363635	74	0.09762532981530343	G	0.013	-1.621716	0.00820	0.222543	0.110937	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.06768	3.61;3.49;3.26	2.88	-2.09	0.07232	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47129	-0.9141	8	0.31617	T	0.26	.	5.1262	0.14886	0.3411:0.4249:0.234:0.0	rs16983412;rs52792279;rs16983412	141;25;25	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	L	141;25;25	ENSP00000374185:V141L;ENSP00000415453:V25L;ENSP00000353060:V25L	ENSP00000353060:V25L	V	-	1	0	ZNF841	57262526	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.719000	0.04974	-0.831000	0.04256	-0.647000	0.03941	GTT	C|0.844;G|0.156	0.156	strong		0.373	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		G	52570714	C	G	52570714	3	3	22	1	0	0	0	0	1	0	0	0	18186	565	20	4	2357	4	ZNF841	19	52570714	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1235	52570714	6558269	10167	15275										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52570783	52570783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagctttcatgtccttccaAcatcactgcttggaattttt	5	10	2	0	rs16983414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52570783A>G	ENST00000426391.2	-	5	555	c.4T>C	c.(4-6)Ttg>Ctg	p.L2L	ZNF841_ENST00000594295.1_Silent_p.L118L|ZNF841_ENST00000359973.2_Silent_p.L2L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Silent_p.L118L			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGTCCTTCCAACATCACTGCT	0.353													A|||	987	0.197085	0.2262	0.1988	5008	,	,		16023	0.121		0.0994	False		,,,				2504	0.3354				p.L118L		Atlas-SNP	.											.	ZNF841	183	.	0			c.T352C						PASS	.	A		308,1076		28,252,412	132	101	110		352	2.3	0	19	dbSNP_123	110	353,2829		20,313,1258	no	coding-synonymous	ZNF841	NM_001136499.1		48,565,1670	GG,GA,AA		11.0937,22.2543,14.4766		118/925	52570783	661,3905	692	1591	2283	SO:0001819	synonymous_variant	284371	exon7			CTTCCAACATCAC	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.4T>C	19.37:g.52570783A>G		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	214	91	0.425234	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																				A|0.829;G|0.171	0.171	strong		0.353	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		G	52570783	A	G	52570783	2	3	22	1	0	0	0	0	0	0	0	1	18186	40	2	2		2	ZNF841	19	52570783	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69	52570783	6558200	10168	15276										
ZNF616	90317	hgsc.bcm.edu	37	chr19	52619065	52619065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctccaatgcactgcaagaTgtgaatgcttactgtacacc	7	11	1	2	rs3764537	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52619065T>C	ENST00000600228.1	-	4	1613	c.1352A>G	c.(1351-1353)cAt>cGt	p.H451R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	451			H -> R (in dbSNP:rs3764537).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CACTGCAAGATGTGAATGCTT	0.398													C|||	1835	0.366414	0.7277	0.2579	5008	,	,		25460	0.2262		0.0954	False		,,,				2504	0.3783				p.H451R		Atlas-SNP	.											.	ZNF616	109	.	0			c.A1352G						PASS	.	C	ARG/HIS	2742,1664	506.9+/-366.5	852,1038,313	161	141	148		1352	-2.2	0	19	dbSNP_107	148	854,7746	780.9+/-407.6	48,758,3494	yes	missense	ZNF616	NM_178523.3	29	900,1796,3807	CC,CT,TT		9.9302,37.7667,27.6488	benign	451/782	52619065	3596,9410	2203	4300	6503	SO:0001583	missense	90317	exon4			GCAAGATGTGAAT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1352A>G	19.37:g.52619065T>C	ENSP00000471000:p.His451Arg	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	186	186	1	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	632	0.2893772893772894	334	0.6788617886178862	99	0.27348066298342544	135	0.23601398601398602	64	0.08443271767810026	C	0.013	-1.640100	0.00799	0.622333	0.099302	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.28458	0.855	0.80722	P	0.0	B	0.11235	0.004	B	0.10450	0.005	T	0.42865	-0.9426	7	0.19590	T	0.45	.	3.9491	0.09361	0.0:0.3831:0.1826:0.4343	rs3764537;rs52830804;rs59937016;rs3764537	451	Q08AN1	ZN616_HUMAN	R	451	.	ENSP00000328722:H451R	H	-	2	0	ZNF616	57310877	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.917000	0.01575	-2.083000	0.00867	-1.840000	0.00586	CAT	T|0.701;C|0.299	0.299	strong		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		C	52619065	T	C	52619065	3	2	22	1	0	0	0	0	1	0	0	0	18038	1464	51	2	997	2	ZNF616	19	52619065	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	48282	52619065	6509918	10169	15277										
ZNF836	162962	hgsc.bcm.edu	37	chr19	52658510	52658510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taaaggctttgccacactcaTtacacacgtaaggtttctct	6	11	2	0	rs8113504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52658510T>C	ENST00000322146.8	-	5	2947	c.2426A>G	c.(2425-2427)aAt>aGt	p.N809S	ZNF836_ENST00000597252.1_Missense_Mutation_p.N809S|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	809			N -> S (in dbSNP:rs8113504). {ECO:0000269|PubMed:14702039}.		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(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCACACTCATTACACACGTA	0.393													t|||	1468	0.293131	0.4856	0.1744	5008	,	,		22147	0.4018		0.1252	False		,,,				2504	0.1779				p.N809S		Atlas-SNP	.											.	ZNF836	158	.	0			c.A2426G						PASS	.	T	SER/ASN	1885,2519	500.8+/-364.8	418,1049,735	145	155	152		2426	0.8	0.5	19	dbSNP_116	152	1163,7435	231.2+/-265.3	76,1011,3212	no	missense	ZNF836	NM_001102657.1	46	494,2060,3947	CC,CT,TT		13.5264,42.802,23.4425	possibly-damaging	809/937	52658510	3048,9954	2202	4299	6501	SO:0001583	missense	162962	exon5			CACTCATTACACA	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2426A>G	19.37:g.52658510T>C	ENSP00000325038:p.Asn809Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	120	120	1	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	636	0.29120879120879123	270	0.5487804878048781	56	0.15469613259668508	210	0.36713286713286714	100	0.13192612137203166	T	8.209	0.799993	0.16397	0.42802	0.135264	ENSG00000196267	ENST00000322146	T	0.16324	2.35	1.9	0.76	0.18442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00823	-1.155	0.58432	P	8.000000000008E-6	B	0.24963	0.115	B	0.23419	0.046	T	0.35748	-0.9776	8	0.11182	T	0.66	.	2.9668	0.05910	0.4271:0.0:0.2163:0.3566	rs8113504;rs52823453;rs59799043;rs8113504	809	Q6ZNA1	ZN836_HUMAN	S	809	ENSP00000325038:N809S	ENSP00000325038:N809S	N	-	2	0	ZNF836	57350322	0.000000	0.05858	0.537000	0.28052	0.918000	0.54935	-5.565000	0.00113	-0.004000	0.14419	0.397000	0.26171	AAT	T|0.735;C|0.265	0.265	strong		0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		C	52658510	T	C	52658510	3	2	22	1	0	0	0	0	1	0	0	0	18184	1493	52	2	386	2	ZNF836	19	52658510	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	39445	52658510	6470473	10170	15278										
ZNF610	162963	hgsc.bcm.edu	37	chr19	52869022	52869022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttggattaacccttgagGcacatctgtctgaattgcag	9	9	2	2	rs2241586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52869022G>T	ENST00000403906.3	+	6	847	c.391G>T	c.(391-393)Gca>Tca	p.A131S	ZNF610_ENST00000601151.1_Missense_Mutation_p.A88S|ZNF610_ENST00000321287.8_Missense_Mutation_p.A131S|ZNF610_ENST00000327920.8_Missense_Mutation_p.A131S	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	131			A -> S (in dbSNP:rs2241586). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15057824}.		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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AACCCTTGAGGCACATCTGTC	0.388													T|||	4129	0.824481	0.857	0.8012	5008	,	,		18847	0.6538		0.9006	False		,,,				2504	0.8947				p.A131S		Atlas-SNP	.											.	ZNF610	84	.	0			c.G391T						PASS	.	T	SER/ALA,SER/ALA,SER/ALA,SER/ALA	3729,677	286.3+/-278.7	1576,577,50	117	127	123		391,391,262,391	-2.2	0	19	dbSNP_98	123	7532,1068	224.3+/-260.7	3295,942,63	yes	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	99,99,99,99	4871,1519,113	TT,TG,GG		12.4186,15.3654,13.4169	benign,benign,benign,benign	131/463,131/463,88/420,131/463	52869022	11261,1745	2203	4300	6503	SO:0001583	missense	162963	exon6			CTTGAGGCACATC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.391G>T	19.37:g.52869022G>T	ENSP00000383922:p.Ala131Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_001161426	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	1744	0.7985347985347986	410	0.8333333333333334	301	0.8314917127071824	354	0.6188811188811189	679	0.895778364116095	T	0.001	-4.565087	0.00000	0.846346	0.875814	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.04809	3.55;3.55	1.11	-2.21	0.06973	.	.	.	.	.	T	0.00012	0.0000	N	0.00642	-1.3	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	8	0.02654	T	1	.	5.3289	0.15922	0.0:0.1387:0.4761:0.3852	rs2241586;rs17836031;rs17857206;rs57199826;rs2241586	88;131	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	S	131;88;131	ENSP00000383922:A131S;ENSP00000327597:A131S	ENSP00000324441:A88S	A	+	1	0	ZNF610	57560834	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.736000	0.04882	-3.448000	0.00161	-2.491000	0.00194	GCA	G|0.164;T|0.836	0.836	strong		0.388	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		T	52869022	G	T	52869022	3	4	22	1	0	0	0	0	1	0	0	0	18033	1203	42	4	405	4	ZNF610	19	52869022	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	210512	52869022	6259961	10171	15279										
ZNF610	162963	hgsc.bcm.edu	37	chr19	52869278	52869278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtgaagtttttagagtccGtgcaagccttactaaccatc	9	9	0	2	rs321937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52869278G>C	ENST00000403906.3	+	6	1103	c.647G>C	c.(646-648)cGt>cCt	p.R216P	ZNF610_ENST00000321287.8_Missense_Mutation_p.R216P|ZNF610_ENST00000601151.1_Missense_Mutation_p.R173P|ZNF610_ENST00000327920.8_Missense_Mutation_p.R216P	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	216			R -> P (in dbSNP:rs321937). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTTAGAGTCCGTGCAAGCCTT	0.378													C|||	4062	0.811102	0.82	0.7954	5008	,	,		19235	0.6419		0.9006	False		,,,				2504	0.8926				p.R216P		Atlas-SNP	.											.	ZNF610	84	.	0			c.G647C						PASS	.	C	PRO/ARG,PRO/ARG,PRO/ARG,PRO/ARG	3621,785	311.9+/-292.3	1488,645,70	72	72	72		647,647,518,647	-1.6	0	19	dbSNP_79	72	7532,1068	223.3+/-260.1	3298,936,66	yes	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	103,103,103,103	4786,1581,136	CC,CG,GG		12.4186,17.8166,14.2473	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	216/463,216/463,173/420,216/463	52869278	11153,1853	2203	4300	6503	SO:0001583	missense	162963	exon6			GAGTCCGTGCAAG	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.647G>C	19.37:g.52869278G>C	ENSP00000383922:p.Arg216Pro	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	134	133	0.992537	NM_001161426	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	1724	0.7893772893772893	397	0.806910569105691	300	0.8287292817679558	348	0.6083916083916084	679	0.895778364116095	C	4.044	0.005798	0.07866	0.821834	0.875814	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.02446	4.29;4.29	1.64	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05178	-1.0901	8	0.34782	T	0.22	.	7.3999	0.26958	0.1307:0.1787:0.6906:0.0	rs321937;rs17836040;rs17846268;rs17859290;rs52805135;rs56553672;rs59534436;rs321937	173;216	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	P	216;173;216	ENSP00000383922:R216P;ENSP00000327597:R216P	ENSP00000324441:R173P	R	+	2	0	ZNF610	57561090	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-1.124000	0.03260	-1.309000	0.02315	-1.474000	0.01003	CGT	G|0.176;C|0.824	0.824	strong		0.378	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		C	52869278	G	C	52869278	3	2	22	1	0	0	0	0	1	0	0	0	18033	1145	40	4	661	4	ZNF610	19	52869278	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	256	52869278	6259705	10172	15280										
ZNF610	162963	hgsc.bcm.edu	37	chr19	52869312	52869312	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaccatcaagtaatccatacTgcagagaaaccttacaaatg	5	10	1	1	rs162120	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52869312T>C	ENST00000403906.3	+	6	1137	c.681T>C	c.(679-681)acT>acC	p.T227T	ZNF610_ENST00000601151.1_Silent_p.T184T|ZNF610_ENST00000321287.8_Silent_p.T227T|ZNF610_ENST00000327920.8_Silent_p.T227T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	227					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TAATCCATACTGCAGAGAAAC	0.383													T|||	3940	0.786741	0.8366	0.7666	5008	,	,		19445	0.5268		0.8966	False		,,,				2504	0.8885				p.T227T		Atlas-SNP	.											.	ZNF610	84	.	0			c.T681C						PASS	.	T	,,,	3657,749	744.2+/-411.5	1515,627,61	68	68	68		681,681,552,681	-1.4	0	19	dbSNP_79	68	7507,1093	765.5+/-407.6	3276,955,69	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	,,,	4791,1582,130	CC,CT,TT		12.7093,16.9995,14.1627	,,,	227/463,227/463,184/420,227/463	52869312	11164,1842	2203	4300	6503	SO:0001819	synonymous_variant	162963	exon6			CCATACTGCAGAG	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.681T>C	19.37:g.52869312T>C		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001161426	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																			T|0.181;C|0.819	0.819	strong		0.383	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		C	52869312	T	C	52869312	2	2	22	1	0	0	0	0	0	0	0	1	18033	1567	55	3		3	ZNF610	19	52869312	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	34	52869312	6259671	10173	15281										
ZNF610	162963	hgsc.bcm.edu	37	chr19	52869534	52869534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcttttagagagtgttcGggacttactacccatcttgt	9	8	1	1	rs162119	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52869534G>A	ENST00000403906.3	+	6	1359	c.903G>A	c.(901-903)tcG>tcA	p.S301S	ZNF610_ENST00000321287.8_Silent_p.S301S|ZNF610_ENST00000601151.1_Silent_p.S258S|ZNF610_ENST00000327920.8_Silent_p.S301S	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S301S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAGAGTGTTCGGGACTTACTA	0.393													A|||	4020	0.802716	0.826	0.7911	5008	,	,		21013	0.6151		0.8966	False		,,,				2504	0.8763				p.S301S		Atlas-SNP	.											ZNF610,NS,carcinoma,0,1	ZNF610	84	1	1	Substitution - coding silent(1)	stomach(1)	c.G903A						PASS	.	A	,,,	3641,765	310.0+/-291.3	1498,645,60	53	49	50		903,903,774,903	1.7	0	19	dbSNP_79	50	7500,1100	227.8+/-263.0	3270,960,70	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	,,,	4768,1605,130	AA,AG,GG		12.7907,17.3627,14.3395	,,,	301/463,301/463,258/420,301/463	52869534	11141,1865	2203	4300	6503	SO:0001819	synonymous_variant	162963	exon6			GTGTTCGGGACTT	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.903G>A	19.37:g.52869534G>A		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_001161426	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																			A|0.826;G|0.174	0.826	strong		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52869534	G	A	52869534	2	1	22	1	0	0	0	0	0	0	0	1	18033	1103	39	1		1	ZNF610	19	52869534	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222	52869534	6259449	10174	15282										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52887282	52887282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaccacttcaaaaaatttAttctagtgtcaaatcccaca	2	11	4	0	rs324125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52887282A>G	ENST00000422689.2	+	4	464	c.449A>G	c.(448-450)tAt>tGt	p.Y150C		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	150					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAAAAAATTTATTCTAGTGTC	0.323													A|||	776	0.154952	0.2534	0.1124	5008	,	,		19781	0.1468		0.1451	False		,,,				2504	0.0706				p.Y150C		Atlas-SNP	.											.	ZNF880	45	.	0			c.A449G						PASS	.	A	CYS/TYR	327,1057		37,253,402	53	44	47		449	-2.9	0	19	dbSNP_79	47	454,2728		31,392,1168	yes	missense	ZNF880	NM_001145434.1	194	68,645,1570	GG,GA,AA		14.2678,23.6272,17.1047	benign	150/578	52887282	781,3785	692	1591	2283	SO:0001583	missense	400713	exon4			AAATTTATTCTAG	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.449A>G	19.37:g.52887282A>G	ENSP00000406318:p.Tyr150Cys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	163	88	0.539877	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	352	0.16117216117216118	122	0.24796747967479674	38	0.10497237569060773	82	0.14335664335664336	110	0.14511873350923482	A	6.084	0.383720	0.11524	0.236272	0.142678	ENSG00000221923	ENST00000422689	T	0.06142	3.34	1.46	-2.92	0.05615	.	.	.	.	.	T	0.00012	0.0000	N	0.16368	0.405	0.80722	P	0.0	B	0.16396	0.017	B	0.17098	0.017	T	0.48222	-0.9054	7	.	.	.	.	3.6589	0.08232	0.4436:0.3632:0.0:0.1931	rs324125;rs327534;rs61690649;rs324125	150	Q6PDB4	ZN880_HUMAN	C	150	ENSP00000406318:Y150C	.	Y	+	2	0	ZNF880	57579094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.103000	0.15292	-1.392000	0.02082	-0.486000	0.04755	TAT	A|0.833;G|0.167	0.167	strong		0.323	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		G	52887282	A	G	52887282	3	3	22	1	0	0	0	0	1	0	0	0	18194	449	16	2	463	2	ZNF880	19	52887282	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17748	52887282	6241701	10175	15283										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888048	52888048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagaatgcacacgggagaGcaaccttacaaatgtaatga	9	8	0	3	rs324124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:52888048G>A	ENST00000422689.2	+	4	1230	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	405					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ACACGGGAGAGCAACCTTACA	0.403													G|||	772	0.154153	0.2526	0.1124	5008	,	,		20761	0.1468		0.1421	False		,,,				2504	0.0706				p.E405E		Atlas-SNP	.											.	ZNF880	45	.	0			c.G1215A						PASS	.						69	63	65					19																	52888048		1568	3582	5150	SO:0001819	synonymous_variant	400713	exon4			GGGAGAGCAACCT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1215G>A	19.37:g.52888048G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	39	22	0.564103	NM_001145434	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																			G|0.865;A|0.135	0.135	strong		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52888048	G	A	52888048	2	1	22	1	0	0	0	0	0	0	0	1	18194	962	34	2		2	ZNF880	19	52888048	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	766	52888048	6240935	10176	15284										
ZNF578	147660	hgsc.bcm.edu	37	chr19	53014492	53014492	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcacactagtgagaaaccTtacaagtgtaatgaatgtgg	10	6	1	2	rs145508251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53014492T>A	ENST00000421239.2	+	6	1102	c.858T>A	c.(856-858)ccT>ccA	p.P286P	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTGAGAAACCTTACAAGTGTA	0.378													T|||	51	0.0101837	0.0363	0.0029	5008	,	,		24259	0.0		0.001	False		,,,				2504	0.0				p.P286P		Atlas-SNP	.											.	.	.	.	0			c.T858A						PASS	.	T		92,4314		0,92,2111	111	115	114		858	-0.1	0.3	19	dbSNP_134	114	8,8590		0,8,4291	no	coding-synonymous	ZNF578	NM_001099694.1		0,100,6402	AA,AT,TT		0.093,2.0881,0.769		286/591	53014492	100,12904	2203	4299	6502	SO:0001819	synonymous_variant	147660	exon6			GAAACCTTACAAG	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.858T>A	19.37:g.53014492T>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	153	68	0.444444	NM_001099694	B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	37	CCDS54310.1																																																																																			T|0.993;A|0.007	0.007	strong		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		A	53014492	T	A	53014492	2	1	22	1	0	0	0	0	0	0	0	1	18007	1596	56	5		5	ZNF578	19	53014492	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	126444	53014492	6114491	10177	15285										
ZNF808	388558	hgsc.bcm.edu	37	chr19	53057031	53057031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactggagagaaaccttacAagtgtaaagagtgtggaaag	12	5	0	2	rs116132766	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53057031A>G	ENST00000359798.4	+	5	1042	c.862A>G	c.(862-864)Aag>Gag	p.K288E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAAACCTTACAAGTGTAAAGA	0.398													A|||	13	0.00259585	0.0083	0.0029	5008	,	,		22244	0.0		0.0	False		,,,				2504	0.0				p.K288E		Atlas-SNP	.											.	ZNF808	81	.	0			c.A862G						PASS	.	A	GLU/LYS	56,4350		0,56,2147	147	148	148		862	-1.1	0	19	dbSNP_132	148	1,8599		0,1,4299	no	missense	ZNF808	NM_001039886.3	56	0,57,6446	GG,GA,AA		0.0116,1.271,0.4383	possibly-damaging	288/904	53057031	57,12949	2203	4300	6503	SO:0001583	missense	388558	exon5			CCTTACAAGTGTA	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.862A>G	19.37:g.53057031A>G	ENSP00000352846:p.Lys288Glu	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	151	53	0.350993	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	.	0.202	-1.043775	0.01997	0.01271	1.16E-4	ENSG00000198482	ENST00000359798	T	0.16196	2.36	1.38	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	L	0.49350	1.555	0.09310	N	1	P	0.42941	0.794	B	0.43754	0.43	T	0.20974	-1.0259	9	0.13470	T	0.59	.	3.8277	0.08861	0.6228:0.2188:0.1583:0.0	.	288	Q8N4W9	ZN808_HUMAN	E	288	ENSP00000352846:K288E	ENSP00000352846:K288E	K	+	1	0	ZNF808	57748843	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-1.383000	0.02544	-0.207000	0.10187	-1.020000	0.02445	AAG	A|0.996;G|0.004	0.004	strong		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		G	53057031	A	G	53057031	3	3	22	1	0	0	0	0	1	0	0	0	18170	131	5	2	872	2	ZNF808	19	53057031	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	42539	53057031	6071952	10178	15286										
ZNF611	81856	hgsc.bcm.edu	37	chr19	53209553	53209553	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgtttgtctcctaaatggGgtatctggtgtttccttaag					rs4085566|rs34846371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53209553G>A	ENST00000319783.1	-	7	1071	c.755C>T	c.(754-756)cCc>cTc	p.P252L	ZNF611_ENST00000540744.1_Missense_Mutation_p.P252L|ZNF611_ENST00000453741.2_Missense_Mutation_p.P183L|ZNF611_ENST00000543227.1_Missense_Mutation_p.P252L|ZNF611_ENST00000602162.1_Missense_Mutation_p.P183L|ZNF611_ENST00000595798.1_Missense_Mutation_p.P183L|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	252			P -> I (requires 2 nucleotide substitutions; dbSNP:rs34846371). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.|P -> L (in dbSNP:rs4085566).|P -> T (in dbSNP:rs4085565).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P252L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCCTAAATGGGGTATCTGGTG	0.378													-|||	2197	0.438698	0.7012	0.3285	5008	,	,		21198	0.3681		0.4105	False		,,,				2504	0.2638				p.P252L		Atlas-SNP	.											ZNF611,NS,carcinoma,0,1	ZNF611	72	1	1	Substitution - Missense(1)	stomach(1)	c.C755T						PASS	.	A	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	2860,1546		1004,852,347	137	145	142		755,755,548,755	1.2	0	19	dbSNP_108	142	3194,5400		725,1744,1828	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	98,98,98,98	1729,2596,2175	AA,AG,GG		37.1655,35.0885,46.5692	benign,benign,benign,benign	252/706,252/706,183/637,252/706	53209553	6054,6946	2203	4297	6500	SO:0001583	missense	81856	exon7			AAATGGGGTATCT	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.755C>T	19.37:g.53209553G>A	ENSP00000322427:p.Pro252Leu	Somatic	185	1	0.00540541		WXS	Illumina HiSeq	Phase_I	193	107	0.554404	NM_030972	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	940	0.43040293040293043	322	0.6544715447154471	126	0.34806629834254144	215	0.3758741258741259	277	0.3654353562005277	.	5.048	0.194555	0.09599	0.649115	0.371655	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	1.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.01729	-0.75	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.25328	-1.0135	8	0.59425	D	0.04	.	2.3777	0.04346	0.5844:0.0:0.1773:0.2382	rs4085566;rs58003344	252	Q8N823	ZN611_HUMAN	L	252;252;183;252	ENSP00000437616:P252L;ENSP00000439211:P252L;ENSP00000443505:P183L;ENSP00000322427:P252L	ENSP00000322427:P252L	P	-	2	0	ZNF611	57901365	0.000000	0.05858	0.025000	0.17156	0.006000	0.05464	-1.050000	0.03510	-0.303000	0.08856	-1.220000	0.01600	CCC	.	.	weak		0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		A	53209553	G	A	53209553	3	1	22	1	0	0	0	0	1	0	0	0	18034	1232	43	2	1366	2	ZNF611	19	53209553	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152522	53209553	5919430	10179	15287	317	2								
ZNF611	81856	hgsc.bcm.edu	37	chr19	53209554	53209554	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtttgtctcctaaatgggGtatctggtgtttccttaaga					rs4085565|rs34846371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53209554G>T	ENST00000319783.1	-	7	1070	c.754C>A	c.(754-756)Ccc>Acc	p.P252T	ZNF611_ENST00000540744.1_Missense_Mutation_p.P252T|ZNF611_ENST00000453741.2_Missense_Mutation_p.P183T|ZNF611_ENST00000543227.1_Missense_Mutation_p.P252T|ZNF611_ENST00000602162.1_Missense_Mutation_p.P183T|ZNF611_ENST00000595798.1_Missense_Mutation_p.P183T|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	252			P -> I (requires 2 nucleotide substitutions; dbSNP:rs34846371). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.|P -> L (in dbSNP:rs4085566).|P -> T (in dbSNP:rs4085565).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCTAAATGGGGTATCTGGTGT	0.383													-|||	2197	0.438698	0.7012	0.3285	5008	,	,		21189	0.3681		0.4105	False		,,,				2504	0.2638				p.P252T		Atlas-SNP	.											ZNF611,NS,carcinoma,+1,1	ZNF611	72	1	0			c.C754A						PASS	.	T	THR/PRO,THR/PRO,THR/PRO,THR/PRO	2862,1544		1004,854,345	137	145	142		754,754,547,754	1.2	0	19	dbSNP_108	142	3197,5397		725,1747,1825	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	38,38,38,38	1729,2601,2170	TT,TG,GG		37.2004,35.0431,46.6077	benign,benign,benign,benign	252/706,252/706,183/637,252/706	53209554	6059,6941	2203	4297	6500	SO:0001583	missense	81856	exon7			AATGGGGTATCTG	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.754C>A	19.37:g.53209554G>T	ENSP00000322427:p.Pro252Thr	Somatic	187	1	0.00534759		WXS	Illumina HiSeq	Phase_I	193	107	0.554404	NM_030972	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	930	0.4258241758241758	314	0.6382113821138211	126	0.34806629834254144	214	0.3741258741258741	276	0.3641160949868074	.	1.705	-0.500665	0.04261	0.649569	0.372004	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	1.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00595	-1.35	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.18178	-1.0345	8	0.39692	T	0.17	.	6.3535	0.21389	0.0:0.0:0.5087:0.4913	rs4085565;rs60261865;rs4085565	252	Q8N823	ZN611_HUMAN	T	252;252;183;252	ENSP00000437616:P252T;ENSP00000439211:P252T;ENSP00000443505:P183T;ENSP00000322427:P252T	ENSP00000322427:P252T	P	-	1	0	ZNF611	57901366	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	0.006000	0.13152	-0.306000	0.08818	-1.228000	0.01579	CCC	.	.	weak		0.383	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		T	53209554	G	T	53209554	3	4	22	1	0	0	0	0	1	0	0	0	18034	1261	44	4	1367	4	ZNF611	19	53209554	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1	53209554	5919429	10180	15288	317	2								
ZNF611	81856	hgsc.bcm.edu	37	chr19	53219140	53219140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctgagctgcttcctcaCgtaacatgagtctttaggaa	8	10	4	2	rs146379839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53219140C>T	ENST00000319783.1	-	5	324	c.8G>A	c.(7-9)cGt>cAt	p.R3H	ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000453741.2_De_novo_Start_OutOfFrame|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H|ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428													-|||	5	0.000998403	0.003	0.0	5008	,	,		22412	0.001		0.0	False		,,,				2504	0.0				p.R3H		Atlas-SNP	.											.	ZNF611	72	.	0			c.G8A						PASS	.	C	HIS/ARG,HIS/ARG,,HIS/ARG	4,3018		0,4,1507	186	202	196		8,8,,8	-2.1	0	19	dbSNP_134	196	1,5417		0,1,2708	no	missense,missense,utr-5,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	29,29,,29	0,5,4215	TT,TC,CC		0.0185,0.1324,0.0592	benign,benign,,benign	3/706,3/706,,3/706	53219140	5,8435	1511	2709	4220	SO:0001583	missense	81856	exon5			TCCTCACGTAACA	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.8G>A	19.37:g.53219140C>T	ENSP00000322427:p.Arg3His	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	37	13	0.351351	NM_030972	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	.	7.679	0.688533	0.14973	0.001324	1.85E-4	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	T;T;T	0.08282	3.11;3.11;3.11	1.87	-2.06	0.07298	.	.	.	.	.	T	0.05044	0.0135	L	0.29908	0.895	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	9	0.33141	T	0.24	.	2.9174	0.05757	0.361:0.2646:0.3743:0.0	.	3	Q8N823	ZN611_HUMAN	H	3	ENSP00000437616:R3H;ENSP00000439211:R3H;ENSP00000322427:R3H	ENSP00000322427:R3H	R	-	2	0	ZNF611	57910952	0.000000	0.05858	0.000000	0.03702	0.491000	0.33493	-0.868000	0.04236	-0.407000	0.07576	0.298000	0.19748	CGT	C|0.999;T|0.001	0.001	strong		0.428	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		T	53219140	C	T	53219140	3	4	22	1	0	0	0	0	1	0	0	0	18034	536	19	1	2121	1	ZNF611	19	53219140	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9586	53219140	5909843	10181	15289										
ZNF600	162966	hgsc.bcm.edu	37	chr19	53270460	53270460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattgtttgtctcctaaatgGggtatctggtgtttccttaa	9	6	2	0	rs4614842	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53270460G>A	ENST00000338230.3	-	3	816	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CTCCTAAATGGGGTATCTGGT	0.373													-|||	589	0.117612	0.0439	0.1167	5008	,	,		21331	0.1855		0.0676	False		,,,				2504	0.1994				p.P183P	Esophageal Squamous(196;1235 2112 2375 33339 34207)	Atlas-SNP	.											.	ZNF600	75	.	0			c.C549T						PASS	.	G		190,4216		1,188,2014	117	124	122		549	-3	0	19	dbSNP_111	122	751,7843		36,679,3582	no	coding-synonymous	ZNF600	NM_198457.2		37,867,5596	AA,AG,GG		8.7387,4.3123,7.2385		183/723	53270460	941,12059	2203	4297	6500	SO:0001819	synonymous_variant	162966	exon3			TAAATGGGGTATC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.549C>T	19.37:g.53270460G>A		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	180	72	0.4	NM_198457	Q6MZR0	Silent	SNP	ENST00000338230.3	37	CCDS12856.1																																																																																			.	.	weak		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		A	53270460	G	A	53270460	2	1	22	1	0	0	0	0	0	0	0	1	18027	1219	43	2		2	ZNF600	19	53270460	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51320	53270460	5858523	10182	15290										
ZNF600	162966	hgsc.bcm.edu	37	chr19	53270623	53270623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatatggatttggggcctaGgagaaattctttgggatgtt	13	3	1	1	rs79890896	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53270623G>C	ENST00000338230.3	-	3	653	c.386C>G	c.(385-387)cCt>cGt	p.P129R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTGGGGCCTAGGAGAAATTCT	0.378													-|||	321	0.0640974	0.2133	0.0245	5008	,	,		19263	0.0089		0.0109	False		,,,				2504	0.002				p.P129R	Esophageal Squamous(196;1235 2112 2375 33339 34207)	Atlas-SNP	.											ZNF600,colon,carcinoma,0,1	ZNF600	75	1	0			c.C386G						PASS	.	C	ARG/PRO	781,3625		72,637,1494	118	124	122		386	-2.2	0	19	dbSNP_131	122	116,8484		1,114,4185	yes	missense	ZNF600	NM_198457.2	103	73,751,5679	CC,CG,GG		1.3488,17.7258,6.8968	benign	129/723	53270623	897,12109	2203	4300	6503	SO:0001583	missense	162966	exon3			GGCCTAGGAGAAA	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.386C>G	19.37:g.53270623G>C	ENSP00000344791:p.Pro129Arg	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	167	80	0.479042	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	129	0.059065934065934064	100	0.2032520325203252	14	0.03867403314917127	6	0.01048951048951049	9	0.011873350923482849	.	0.012	-1.650134	0.00785	0.177258	0.013488	ENSG00000189190	ENST00000338230	T	0.07908	3.15	1.08	-2.17	0.07059	.	.	.	.	.	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38308	-0.9667	8	0.56958	D	0.05	.	5.1689	0.15099	0.1704:0.3728:0.4569:0.0	.	129	Q6ZNG1	ZN600_HUMAN	R	129	ENSP00000344791:P129R	ENSP00000344791:P129R	P	-	2	0	ZNF600	57962435	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.338000	0.19858	-2.412000	0.00570	-1.123000	0.02005	CCT	G|0.938;C|0.062	0.062	strong		0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		C	53270623	G	C	53270623	3	2	22	1	0	0	0	0	1	0	0	0	18027	1000	35	4	1786	4	ZNF600	19	53270623	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	163	53270623	5858360	10183	15291										
ZNF28	7576	hgsc.bcm.edu	37	chr19	53304448	53304448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggatttgccactctcaataCattggaaagatttttctctc	6	9	2	1	rs143289804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53304448C>T	ENST00000457749.2	-	4	769	c.650G>A	c.(649-651)tGt>tAt	p.C217Y	ZNF28_ENST00000414252.2_Missense_Mutation_p.C164Y|ZNF28_ENST00000438150.2_Missense_Mutation_p.C164Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.C164Y	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACTCTCAATACATTGGAAAGA	0.328													-|||	6	0.00119808	0.0045	0.0	5008	,	,		21480	0.0		0.0	False		,,,				2504	0.0				p.C217Y		Atlas-SNP	.											.	ZNF28	191	.	0			c.G650A						PASS	.	C	TYR/CYS	22,4384		0,22,2181	118	121	120		650	-3.5	0	19	dbSNP_134	120	0,8600		0,0,4300	yes	missense	ZNF28	NM_006969.3	194	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	benign	217/719	53304448	22,12984	2203	4300	6503	SO:0001583	missense	7576	exon4			TCAATACATTGGA	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.650G>A	19.37:g.53304448C>T	ENSP00000397693:p.Cys217Tyr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	-	3.805	-0.040964	0.07452	0.004993	0.0	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49236	0.1545	H	0.94183	3.505	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55885	-0.8070	9	0.66056	D	0.02	.	5.4015	0.16299	0.0:0.5647:0.168:0.2673	.	217	P17035	ZNF28_HUMAN	Y	164;217;164;164;164	ENSP00000412143:C164Y;ENSP00000397693:C217Y;ENSP00000353410:C164Y;ENSP00000444965:C164Y;ENSP00000375661:C164Y	ENSP00000353410:C164Y	C	-	2	0	ZNF28	57996260	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	1.019000	0.30014	-1.136000	0.02892	-1.497000	0.00963	TGT	C|0.998;T|0.002	0.002	strong		0.328	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53304448	C	T	53304448	3	4	22	1	0	0	0	0	1	0	0	0	17810	478	17	2	1510	2	ZNF28	19	53304448	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33825	53304448	5824535	10184	15292										
ZNF320	162967	hgsc.bcm.edu	37	chr19	53384197	53384197	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgaggtacgcttttgtactAaaaaccttgccacattcatt	7	10	1	0	rs61745485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53384197A>G	ENST00000595635.1	-	8	1683	c.1182T>C	c.(1180-1182)ttT>ttC	p.F394F	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.F394F	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	394					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)		CTTTTGTACTAAAAACCTTGC	0.403													.|||	334	0.0666933	0.143	0.0288	5008	,	,		23267	0.0437		0.0487	False		,,,				2504	0.0327				p.F394F		Atlas-SNP	.											.	ZNF320	67	.	0			c.T1182C						PASS	.	A		569,3837		26,517,1660	91	87	88		1182	-0.3	0	19	dbSNP_129	88	353,8247		5,343,3952	no	coding-synonymous	ZNF320	NM_207333.2		31,860,5612	GG,GA,AA		4.1047,12.9142,7.089		394/510	53384197	922,12084	2203	4300	6503	SO:0001819	synonymous_variant	162967	exon4			TGTACTAAAAACC	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.1182T>C	19.37:g.53384197A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	107	46	0.429907	NM_207333	Q8NDR6	Silent	SNP	ENST00000595635.1	37	CCDS33095.1																																																																																			A|0.933;G|0.067	0.067	strong		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		G	53384197	A	G	53384197	2	3	22	1	0	0	0	0	0	0	0	1	17836	359	13	2		2	ZNF320	19	53384197	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	79749	53384197	5744786	10185	15293										
ZNF415	55786	hgsc.bcm.edu	37	chr19	53612055	53612055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaccttaccacattcatTgcatttgtaaggtttctctc	5	10	2	0	rs10410030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53612055T>C	ENST00000500065.4	-	4	1576	c.1243A>G	c.(1243-1245)Aat>Gat	p.N415D	ZNF415_ENST00000455735.2_Missense_Mutation_p.N463D|ZNF415_ENST00000601493.1_Missense_Mutation_p.N185D|ZNF415_ENST00000421033.1_Missense_Mutation_p.N427D|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.N463D|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.N402D|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.N415D	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCACATTCATTGCATTTGTAA	0.408													T|||	609	0.121605	0.2292	0.1412	5008	,	,		24059	0.002		0.1322	False		,,,				2504	0.0746				p.N415D		Atlas-SNP	.											.	ZNF415	68	.	0			c.A1243G						PASS	.	T	ASP/ASN,ASP/ASN,ASP/ASN	870,3536	339.1+/-305.6	93,684,1426	87	86	86		1243,1243,1243	-2.3	0	19	dbSNP_119	86	1352,7248	264.5+/-285.6	116,1120,3064	yes	missense,missense,missense	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	23,23,23	209,1804,4490	CC,CT,TT		15.7209,19.7458,17.0844	benign,benign,benign	415/556,415/556,415/556	53612055	2222,10784	2203	4300	6503	SO:0001583	missense	55786	exon4			ATTCATTGCATTT	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1243A>G	19.37:g.53612055T>C	ENSP00000439435:p.Asn415Asp	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	52	30	0.576923	NM_018355	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	249	0.11401098901098901	90	0.18292682926829268	59	0.16298342541436464	1	0.0017482517482517483	99	0.13060686015831136	T	12.29	1.892683	0.33442	0.197458	0.157209	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2	2.77	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00521	-1.4	0.80722	P	0.0	B;B;B;B;B;B	0.22414	0.002;0.043;0.005;0.002;0.005;0.069	B;B;B;B;B;B	0.29440	0.003;0.102;0.01;0.003;0.005;0.062	T	0.46176	-0.9210	8	0.37606	T	0.19	.	4.8591	0.13573	0.1501:0.4097:0.0:0.4402	rs10410030;rs17846658;rs17859755;rs52797631;rs10410030	415;463;463;415;402;427	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	D	415;415;463;427;463;402	ENSP00000243643:N415D;ENSP00000439435:N415D;ENSP00000396492:N463D;ENSP00000395055:N427D;ENSP00000388787:N463D;ENSP00000414601:N402D	ENSP00000243643:N415D	N	-	1	0	ZNF415	58303867	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-4.986000	0.00163	-0.870000	0.04047	-0.425000	0.05940	AAT	T|0.842;C|0.158	0.158	strong		0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		C	53612055	T	C	53612055	3	2	22	1	0	0	0	0	1	0	0	0	17889	1812	63	2	428	2	ZNF415	19	53612055	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	227858	53612055	5516928	10186	15294										
ZNF665	79788	hgsc.bcm.edu	37	chr19	53668549	53668549	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacatttgaaaggcttttcTccggtatggatgatctgatg	10	6	2	3	rs10409924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53668549T>G	ENST00000600412.1	-	2	1114	c.999A>C	c.(997-999)ggA>ggC	p.G333G	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.G398G			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAGGCTTTTCTCCGGTATGGA	0.393													T|||	1081	0.215855	0.4304	0.1484	5008	,	,		23571	0.0972		0.1342	False		,,,				2504	0.18				p.G398G		Atlas-SNP	.											.	ZNF665	136	.	0			c.A1194C						PASS	.	T		1573,2833	468.3+/-355.1	286,1001,916	96	101	99		1194	-2.4	0	19	dbSNP_119	99	1325,7269	255.4+/-280.3	99,1127,3071	no	coding-synonymous	ZNF665	NM_024733.3		385,2128,3987	GG,GT,TT		15.4177,35.7013,22.2923		398/679	53668549	2898,10102	2203	4297	6500	SO:0001819	synonymous_variant	79788	exon4			CTTTTCTCCGGTA		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.999A>C	19.37:g.53668549T>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	99	98	0.989899	NM_024733	A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																				T|0.774;G|0.226	0.226	strong		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		G	53668549	T	G	53668549	2	3	22	1	0	0	0	0	0	0	0	1	18070	1538	54	5		5	ZNF665	19	53668549	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56494	53668549	5460434	10187	15295										
VN1R2	317701	hgsc.bcm.edu	37	chr19	53761740	53761740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtatccaataaatatcagTgcagcctggcattcggggcc	10	10	1	0	rs386810659|rs2965249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53761740T>C	ENST00000341702.3	+	1	196	c.112T>C	c.(112-114)Tgc>Cgc	p.C38R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	38			C -> R (in dbSNP:rs2965249). {ECO:0000269|PubMed:12123587, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		taaatatcagtgcagcctggc	0.493													t|||	1575	0.314497	0.3321	0.2738	5008	,	,		17084	0.3671		0.2952	False		,,,				2504	0.2853				p.C38R		Atlas-SNP	.											.	VN1R2	71	.	0			c.T112C						PASS	.						11	12	12					19																	53761740		1888	3577	5465	SO:0001583	missense	317701	exon1			TATCAGTGCAGCC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.112T>C	19.37:g.53761740T>C	ENSP00000351244:p.Cys38Arg	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	33	0.347368	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	696	0.31868131868131866	150	0.3048780487804878	117	0.32320441988950277	219	0.38286713286713286	210	0.2770448548812665	t	0.969	-0.700889	0.03255	.	.	ENSG00000196131	ENST00000341702	T	0.11604	2.76	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.54753	P	1.399999999995849E-5	P	0.39520	0.676	B	0.42343	0.384	T	0.49263	-0.8958	6	0.87932	D	0	.	.	.	.	rs2965249	38	Q8NFZ6	VN1R2_HUMAN	R	38	ENSP00000351244:C38R	ENSP00000351244:C38R	C	+	1	0	VN1R2	58453552	0.173000	0.23056	0.192000	0.23308	0.193000	0.23685	0.000000	0.12993	0.064000	0.16427	0.063000	0.15292	TGC	T|0.678;C|0.322	0.322	strong		0.493	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		C	53761740	T	C	53761740	3	2	22	1	0	0	0	0	1	0	0	0	17176	1696	59	2	114	2	VN1R2	19	53761740	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93191	53761740	5367243	10188	15296										
VN1R4	317703	hgsc.bcm.edu	37	chr19	53770846	53770846	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagagataatggagaagaaCagagaagctccccaggactc	13	8	0	4	rs112743505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53770846C>G	ENST00000311170.4	-	1	126	c.73G>C	c.(73-75)Gtt>Ctt	p.V25L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	25					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGGAGAAGAACAGAGAAGCTC	0.493										HNSCC(26;0.072)			G|||	256	0.0511182	0.1831	0.0159	5008	,	,		19164	0.002		0.001	False		,,,				2504	0.0				p.V25L		Atlas-SNP	.											.	VN1R4	65	.	0			c.G73C						PASS	.	G	LEU/VAL	706,3700	745.0+/-411.6	70,566,1567	57	63	61		73	1.2	0	19	dbSNP_134	61	8,8592	817.1+/-406.9	0,8,4292	yes	missense	VN1R4	NM_173857.2	32	70,574,5859	GG,GC,CC		0.093,16.0236,5.4898	benign	25/302	53770846	714,12292	2203	4300	6503	SO:0001583	missense	317703	exon1			GAAGAACAGAGAA	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.73G>C	19.37:g.53770846C>G	ENSP00000310856:p.Val25Leu	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	394	192	0.48731	NM_173857	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	93	0.042582417582417584	75	0.1524390243902439	8	0.022099447513812154	4	0.006993006993006993	6	0.0079155672823219	G	0.008	-1.870615	0.00542	0.160236	9.3E-4	ENSG00000228567	ENST00000311170	T	0.44482	0.92	2.26	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.610624	0.12496	N	0.463795	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24905	-1.0147	9	0.02654	T	1	.	3.7996	0.08753	0.1549:0.2523:0.5928:0.0	.	25	Q7Z5H5	VN1R4_HUMAN	L	25	ENSP00000310856:V25L	ENSP00000310856:V25L	V	-	1	0	VN1R4	58462658	0.016000	0.18221	0.008000	0.14137	0.008000	0.06430	0.420000	0.21263	0.090000	0.17273	-0.275000	0.10095	GTT	C|0.953;G|0.047	0.047	strong		0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		G	53770846	C	G	53770846	3	3	22	1	0	0	0	0	1	0	0	0	17177	478	17	4	835	4	VN1R4	19	53770846	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9106	53770846	5358137	10189	15297										
BIRC8	112401	hgsc.bcm.edu	37	chr19	53793162	53793162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgtagtgtctttctgagCgctcactagatctgcaacaa	8	10	5	2	rs35880972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53793162C>T	ENST00000426466.1	-	1	1713	c.466G>A	c.(466-468)Gct>Act	p.A156T		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	156			A -> T (in dbSNP:rs35880972).		apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTTTCTGAGCGCTCACTAGA	0.413													c|||	346	0.0690895	0.2466	0.0274	5008	,	,		18539	0.0		0.001	False		,,,				2504	0.0				p.A156T		Atlas-SNP	.											.	BIRC8	54	.	0			c.G466A						PASS	.	C	THR/ALA	885,3521	343.3+/-307.6	86,713,1404	102	102	102		466	-0.8	0	19	dbSNP_126	102	8,8592	5.0+/-18.6	0,8,4292	yes	missense	BIRC8	NM_033341.4	58	86,721,5696	TT,TC,CC		0.093,20.0862,6.8661	probably-damaging	156/237	53793162	893,12113	2203	4300	6503	SO:0001583	missense	112401	exon1			TCTGAGCGCTCAC	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.466G>A	19.37:g.53793162C>T	ENSP00000412957:p.Ala156Thr	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	221	101	0.457014	NM_033341	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	120	0.054945054945054944	111	0.22560975609756098	9	0.024861878453038673	0	0.0	0	0.0	C	8.392	0.840001	0.16891	0.200862	9.3E-4	ENSG00000163098	ENST00000426466	T	0.37915	1.17	0.628	-0.793	0.10922	.	.	.	.	.	T	0.00012	0.0000	M	0.79475	2.455	0.80722	P	0.0	P	0.37500	0.597	B	0.23852	0.049	T	0.06862	-1.0803	8	0.42905	T	0.14	-4.5555	5.2502	0.15517	0.0:0.7589:0.0:0.2411	rs35880972	156	Q96P09	BIRC8_HUMAN	T	156	ENSP00000412957:A156T	ENSP00000412957:A156T	A	-	1	0	BIRC8	58484974	0.119000	0.22226	0.005000	0.12908	0.004000	0.04260	0.493000	0.22451	-0.150000	0.11195	-0.356000	0.07607	GCT	C|0.937;T|0.063	0.063	strong		0.413	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		T	53793162	C	T	53793162	3	4	22	1	0	0	0	0	1	0	0	0	1440	768	27	1	248	1	BIRC8	19	53793162	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22316	53793162	5335821	10190	15298										
ZNF765	91661	hgsc.bcm.edu	37	chr19	53901281	53901281	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcagggatggctcttcctCaggtgagatgatattcttgg	13	7	4	2	rs141876832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53901281C>G	ENST00000396408.3	+	2	130	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	ZNF765_ENST00000594030.1_Missense_Mutation_p.Q5E	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGCTCTTCCTCAGGTGAGATG	0.433													.|||	88	0.0175719	0.0651	0.0029	5008	,	,		21689	0.0		0.0	False		,,,				2504	0.0				p.Q5E		Atlas-SNP	.											ZNF765_ENST00000396408,NS,carcinoma,-2,1	ZNF765	61	1	0			c.C13G						PASS	.	C	GLU/GLN	237,4169	139.2+/-174.8	4,229,1970	183	155	164		13	0.9	0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF765	NM_001040185.1	29	4,231,6268	GG,GC,CC		0.0233,5.379,1.8376	benign	5/524	53901281	239,12767	2203	4300	6503	SO:0001583	missense	91661	exon2			CTTCCTCAGGTGA	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.13C>G	19.37:g.53901281C>G	ENSP00000379689:p.Gln5Glu	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	83	0.038003663003663	44	0.08943089430894309	11	0.03038674033149171	14	0.024475524475524476	14	0.018469656992084433	C	2.310	-0.358135	0.05138	0.05379	2.33E-4	ENSG00000196417	ENST00000396408	T	0.00940	5.52	0.924	0.924	0.19418	Krueppel-associated box (1);	.	.	.	.	T	0.00073	0.0002	M	0.72894	2.215	0.09310	N	1	D	0.54772	0.968	P	0.44732	0.459	T	0.53078	-0.8489	9	0.66056	D	0.02	.	5.23	0.15416	0.0:1.0:0.0:0.0	.	5	Q7L2R6	ZN765_HUMAN	E	5	ENSP00000379689:Q5E	ENSP00000379689:Q5E	Q	+	1	0	ZNF765	58593093	0.446000	0.25665	0.033000	0.17914	0.161000	0.22273	0.533000	0.23082	0.829000	0.34733	0.194000	0.17425	CAG	C|0.962;G|0.038	0.038	strong		0.433	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		G	53901281	C	G	53901281	3	3	22	1	0	0	0	0	1	0	0	0	18136	827	29	4	15	4	ZNF765	19	53901281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	108119	53901281	5227702	10191	15299										
ZNF765	91661	hgsc.bcm.edu	37	chr19	53911041	53911041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggacatctcaaagacatgAaagtcatcacaatggagatt	9	7	3	3	rs116731689	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53911041A>G	ENST00000396408.3	+	4	350	c.233A>G	c.(232-234)gAa>gGa	p.E78G	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAAGACATGAAAGTCATCAC	0.378													.|||	152	0.0303514	0.1112	0.0029	5008	,	,		19693	0.0		0.003	False		,,,				2504	0.0				p.E78G		Atlas-SNP	.											.	ZNF765	61	.	0			c.A233G						PASS	.	A	GLY/GLU	374,4018	175.9+/-205.1	16,342,1838	73	74	74		233	1.2	0	19	dbSNP_132	74	6,8586	3.0+/-9.4	0,6,4290	yes	missense	ZNF765	NM_001040185.1	98	16,348,6128	GG,GA,AA		0.0698,8.5155,2.9267	benign	78/524	53911041	380,12604	2196	4296	6492	SO:0001583	missense	91661	exon4			GACATGAAAGTCA	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.233A>G	19.37:g.53911041A>G	ENSP00000379689:p.Glu78Gly	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	264	129	0.488636	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	47	0.02152014652014652	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	A	13.11	2.139154	0.37728	0.085155	6.98E-4	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.08896	3.04;4.0	1.21	1.21	0.21127	Krueppel-associated box (1);	.	.	.	.	T	0.00241	0.0007	N	0.17082	0.46	0.09310	N	1	B	0.34241	0.444	B	0.38880	0.284	T	0.47471	-0.9115	8	.	.	.	.	4.4592	0.11657	1.0:0.0:0.0:0.0	.	78	Q7L2R6	ZN765_HUMAN	G	78;25	ENSP00000379689:E78G;ENSP00000421579:E25G	.	E	+	2	0	ZNF765	58602853	0.000000	0.05858	0.013000	0.15412	0.045000	0.14185	0.406000	0.21032	0.523000	0.28482	0.147000	0.16070	GAA	A|0.975;G|0.025	0.025	strong		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		G	53911041	A	G	53911041	3	3	22	1	0	0	0	0	1	0	0	0	18136	246	9	2	243	2	ZNF765	19	53911041	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	9760	53911041	5217942	10192	15300										
ZNF765	91661	hgsc.bcm.edu	37	chr19	53911786	53911786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcatactggagagaaaccGtacaagtgtaatgagtgtgg	12	5	1	2	rs10407020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53911786G>A	ENST00000396408.3	+	4	1095	c.978G>A	c.(976-978)ccG>ccA	p.P326P	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GAGAGAAACCGTACAAGTGTA	0.388													.|||	296	0.0591054	0.146	0.0231	5008	,	,		23994	0.0397		0.0119	False		,,,				2504	0.0358				p.P326P		Atlas-SNP	.											.	ZNF765	61	.	0			c.G978A						PASS	.	G		554,3852	236.8+/-248.8	37,480,1686	88	91	90		978	-2.6	0	19	dbSNP_119	90	121,8479	61.0+/-122.8	2,117,4181	no	coding-synonymous	ZNF765	NM_001040185.1		39,597,5867	AA,AG,GG		1.407,12.5738,5.1899		326/524	53911786	675,12331	2203	4300	6503	SO:0001819	synonymous_variant	91661	exon4			GAAACCGTACAAG	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.978G>A	19.37:g.53911786G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	CCDS46171.1																																																																																			G|0.951;A|0.049	0.049	strong		0.388	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		A	53911786	G	A	53911786	2	1	22	1	0	0	0	0	0	0	0	1	18136	1132	40	1		1	ZNF765	19	53911786	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	745	53911786	5217197	10193	15301										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53989945	53989945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaggagtggaaatgcctGgaccctgctcagaggactct	14	10	2	1	rs34008652	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53989945G>A	ENST00000396403.4	+	3	203	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF813_ENST00000396421.4_Silent_p.L25L	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAAATGCCTGGACCCTGCTC	0.473																																					p.L25L		Atlas-SNP	.											.	ZNF813	81	.	0			c.G75A						PASS	.						59	65	63					19																	53989945		2192	4259	6451	SO:0001819	synonymous_variant	126017	exon3			ATGCCTGGACCCT	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.75G>A	19.37:g.53989945G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	86	18	0.209302	NM_001004301		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																			G|0.500;A|0.500	0.500	strong		0.473	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53989945	G	A	53989945	2	1	22	1	0	0	0	0	0	0	0	1	18172	1335	47	2		2	ZNF813	19	53989945	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78159	53989945	5139038	10194	15302										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53993670	53993670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaggagttctcatcaacaGcacaaggcaatagagaagtg	11	7	2	2	rs2617667	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53993670G>A	ENST00000396403.4	+	4	312	c.184G>A	c.(184-186)Gca>Aca	p.A62T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		A -> T (in dbSNP:rs2617667).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTCATCAACAGCACAAGGCAA	0.368													g|||	1495	0.298522	0.475	0.2406	5008	,	,		21430	0.2421		0.1918	False		,,,				2504	0.2689				p.A62T		Atlas-SNP	.											.	ZNF813	81	.	0			c.G184A						PASS	.	G	THR/ALA	1851,2513	489.2+/-361.4	396,1059,727	89	93	91		184	-1.1	0	19	dbSNP_100	91	1648,6938	291.6+/-300.4	158,1332,2803	no	missense	ZNF813	NM_001004301.3	58	554,2391,3530	AA,AG,GG		19.194,42.4152,27.0193	possibly-damaging	62/618	53993670	3499,9451	2182	4293	6475	SO:0001583	missense	126017	exon4			TCAACAGCACAAG	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.184G>A	19.37:g.53993670G>A	ENSP00000379684:p.Ala62Thr	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	168	91	0.541667	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	578	0.26465201465201466	224	0.45528455284552843	83	0.2292817679558011	140	0.24475524475524477	131	0.17282321899736147	G	6.884	0.532613	0.13127	0.424152	0.19194	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05649	4.08;3.41;5.14	0.678	-1.13	0.09775	Krueppel-associated box (3);	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P	0.37330	0.59	B	0.40602	0.334	T	0.37549	-0.9701	8	0.16420	T	0.52	.	4.7006	0.12825	0.0:0.0:0.3779:0.6221	rs2617667;rs52808272;rs56450222;rs59449241;rs2617667	62	Q6ZN06	ZN813_HUMAN	T	9;62;93	ENSP00000419821:A9T;ENSP00000379684:A62T;ENSP00000418289:A93T	ENSP00000379684:A62T	A	+	1	0	ZNF813	58685482	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.243000	0.08915	-0.301000	0.08882	0.205000	0.17691	GCA	G|0.745;A|0.255	0.255	strong		0.368	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53993670	G	A	53993670	3	1	22	1	0	0	0	0	1	0	0	0	18172	971	34	2	194	2	ZNF813	19	53993670	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3725	53993670	5135313	10195	15303										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53993988	53993988	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtaatcaagtggagaagtctAtcaacgatgcttcctcaatt	8	8	4	1	rs12460628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53993988A>T	ENST00000396403.4	+	4	630	c.502A>T	c.(502-504)Atc>Ttc	p.I168F	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	168			I -> F (in dbSNP:rs12460628).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAGAAGTCTATCAACGATGC	0.393													a|||	461	0.0920527	0.0961	0.0778	5008	,	,		20520	0.12		0.0567	False		,,,				2504	0.1043				p.I168F		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,0,1	ZNF813	81	1	0			c.A502T						PASS	.	A	PHE/ILE	395,4009	180.5+/-208.7	20,355,1827	121	129	127		502	-1	0	19	dbSNP_120	127	466,8132	133.9+/-191.4	23,420,3856	no	missense	ZNF813	NM_001004301.3	21	43,775,5683	TT,TA,AA		5.4199,8.9691,6.6221	benign	168/618	53993988	861,12141	2202	4299	6501	SO:0001583	missense	126017	exon4			AAGTCTATCAACG	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.502A>T	19.37:g.53993988A>T	ENSP00000379684:p.Ile168Phe	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	382	191	0.5	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	183	0.08379120879120878	53	0.10772357723577236	22	0.06077348066298342	68	0.11888111888111888	40	0.052770448548812667	A	0.022	-1.413467	0.01145	0.089691	0.054199	ENSG00000198346	ENST00000468450;ENST00000396403	T;T	0.05855	3.83;3.38	0.75	-1.0	0.10196	.	.	.	.	.	T	0.00039	0.0001	N	0.00859	-1.14	0.80722	P	0.0	B	0.20671	0.047	B	0.23419	0.046	T	0.42682	-0.9437	7	0.02654	T	1	.	.	.	.	rs12460628;rs52795330;rs12460628	168	Q6ZN06	ZN813_HUMAN	F	115;168	ENSP00000419821:I115F;ENSP00000379684:I168F	ENSP00000379684:I168F	I	+	1	0	ZNF813	58685800	0.000000	0.05858	0.016000	0.15963	0.031000	0.12232	-2.256000	0.01181	-0.425000	0.07371	0.172000	0.16884	ATC	.	.	weak		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		T	53993988	A	T	53993988	3	4	22	1	0	0	0	0	1	0	0	0	18172	449	16	5	512	5	ZNF813	19	53993988	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	318	53993988	5134995	10196	15304										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53994083	53994083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaataatttccggaattcTtcgttactcacacaaaaaca	6	9	2	0	rs150664026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53994083T>C	ENST00000396403.4	+	4	725	c.597T>C	c.(595-597)tcT>tcC	p.S199S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCCGGAATTCTTCGTTACTCA	0.368													.|||	12	0.00239617	0.0083	0.0014	5008	,	,		20858	0.0		0.0	False		,,,				2504	0.0				p.S199S		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,+1,1	ZNF813	81	1	0			c.T597C						PASS	.	T		31,4353		0,31,2161	79	87	84		597	0.5	0	19	dbSNP_134	84	2,8584		0,2,4291	no	coding-synonymous	ZNF813	NM_001004301.3		0,33,6452	CC,CT,TT		0.0233,0.7071,0.2544		199/618	53994083	33,12937	2192	4293	6485	SO:0001819	synonymous_variant	126017	exon4			GAATTCTTCGTTA	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.597T>C	19.37:g.53994083T>C		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	248	119	0.479839	NM_001004301		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																			T|0.999;C|0.001	0.001	strong		0.368	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		C	53994083	T	C	53994083	2	2	22	1	0	0	0	0	0	0	0	1	18172	1596	56	3		3	ZNF813	19	53994083	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	95	53994083	5134900	10197	15305										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53994178	53994178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taattatagctcactcttaaGgaaacatcaaataatccatt	3	8	3	0	rs10421308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:53994178G>A	ENST00000396403.4	+	4	820	c.692G>A	c.(691-693)aGg>aAg	p.R231K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	231			R -> K (in dbSNP:rs10421308).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R231K(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCACTCTTAAGGAAACATCAA	0.368													.|||	459	0.0916534	0.0946	0.0778	5008	,	,		21536	0.12		0.0567	False		,,,				2504	0.1043				p.R231K		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,0,1	ZNF813	81	1	1	Substitution - Missense(1)	stomach(1)	c.G692A						PASS	.	G	LYS/ARG	374,4022	173.4+/-203.2	18,338,1842	71	75	74		692	-0.9	0	19	dbSNP_119	74	468,8130	132.6+/-190.3	23,422,3854	no	missense	ZNF813	NM_001004301.3	26	41,760,5696	AA,AG,GG		5.4431,8.5077,6.4799	benign	231/618	53994178	842,12152	2198	4299	6497	SO:0001583	missense	126017	exon4			TCTTAAGGAAACA	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.692G>A	19.37:g.53994178G>A	ENSP00000379684:p.Arg231Lys	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	157	75	0.477707	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	182	0.08333333333333333	52	0.10569105691056911	22	0.06077348066298342	68	0.11888111888111888	40	0.052770448548812667	G	0.101	-1.152221	0.01700	0.085077	0.054431	ENSG00000198346	ENST00000396403	T	0.20200	2.09	1.0	-0.918	0.10482	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00109	0.0003	N	0.01742	-0.745	0.80722	P	0.0	B	0.22211	0.066	B	0.26416	0.069	T	0.41734	-0.9492	8	0.19147	T	0.46	.	3.8116	0.08799	0.7133:0.0:0.2866:0.0	rs10421308;rs17305122;rs10421308	231	Q6ZN06	ZN813_HUMAN	K	231	ENSP00000379684:R231K	ENSP00000379684:R231K	R	+	2	0	ZNF813	58685990	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-6.679000	0.00057	-0.397000	0.07691	0.205000	0.17691	AGG	G|0.911;A|0.089	0.089	strong		0.368	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53994178	G	A	53994178	3	1	22	1	0	0	0	0	1	0	0	0	18172	1000	35	2	702	2	ZNF813	19	53994178	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95	53994178	5134805	10198	15306										
ZNF331	55422	hgsc.bcm.edu	37	chr19	54080279	54080279	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcagaaaatccatactggTgagaaaccttatgaatgtaa	7	7	1	3	rs1351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54080279T>C	ENST00000253144.9	+	7	1798	c.465T>C	c.(463-465)ggT>ggC	p.G155G	ZNF331_ENST00000511154.1_Silent_p.G155G|ZNF331_ENST00000411977.2_Silent_p.G155G|ZNF331_ENST00000511593.2_Silent_p.G155G|ZNF331_ENST00000512387.1_Silent_p.G155G|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Silent_p.G155G|ZNF331_ENST00000513999.1_Silent_p.G155G	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCCATACTGGTGAGAAACCTT	0.408			T	?	follicular thyroid adenoma								C|||	544	0.108626	0.3071	0.0706	5008	,	,		19205	0.0		0.0726	False		,,,				2504	0.0164				p.G155G		Atlas-SNP	.		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	ZNF331_ENST00000253144,NS,carcinoma,+2,1	ZNF331	66	1	0			c.T465C						scavenged	.	C	,,	1110,3296	718.8+/-408.9	125,860,1218	97	103	101		465,465,465	-7.3	0.2	19	dbSNP_36	101	570,8030	793.4+/-407.5	17,536,3747	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF331	NM_001079906.1,NM_001079907.1,NM_018555.5	,,	142,1396,4965	CC,CT,TT		6.6279,25.1929,12.9171	,,	155/464,155/464,155/464	54080279	1680,11326	2203	4300	6503	SO:0001819	synonymous_variant	55422	exon5			TACTGGTGAGAAA	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.465T>C	19.37:g.54080279T>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	109	49	0.449541	NM_001253801	Q96GJ4	Silent	SNP	ENST00000253144.9	37	CCDS33102.1																																																																																			T|0.881;C|0.119	0.119	strong		0.408	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		C	54080279	T	C	54080279	2	2	22	1	0	0	0	0	0	0	0	1	17846	1683	59	2		2	ZNF331	19	54080279	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	86101	54080279	5048704	10199	15307										
ZNF331	55422	hgsc.bcm.edu	37	chr19	54080999	54080999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaaggctttcatttatggAtcgagcctcgtgaaacatga	12	7	1	2	rs1056393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54080999A>G	ENST00000253144.9	+	7	2518	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	ZNF331_ENST00000511154.1_Silent_p.G395G|ZNF331_ENST00000513999.1_Silent_p.G395G|ZNF331_ENST00000411977.2_Silent_p.G395G|ZNF331_ENST00000511593.2_Silent_p.G395G|ZNF331_ENST00000449416.1_Silent_p.G395G|ZNF331_ENST00000512387.1_Silent_p.G395G	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCATTTATGGATCGAGCCTCG	0.483			T	?	follicular thyroid adenoma								G|||	468	0.0934505	0.2549	0.0605	5008	,	,		19155	0.0		0.0726	False		,,,				2504	0.0164				p.G395G		Atlas-SNP	.		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	ZNF331	66	.	0			c.A1185G						PASS	.	G	,,	947,3459	735.8+/-410.7	93,761,1349	70	68	68		1185,1185,1185	-3.5	0.5	19	dbSNP_86	68	559,8041	794.3+/-407.5	16,527,3757	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF331	NM_001079906.1,NM_001079907.1,NM_018555.5	,,	109,1288,5106	GG,GA,AA		6.5,21.4934,11.5793	,,	395/464,395/464,395/464	54080999	1506,11500	2203	4300	6503	SO:0001819	synonymous_variant	55422	exon5			TTATGGATCGAGC	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1185A>G	19.37:g.54080999A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	150	79	0.526667	NM_001253801	Q96GJ4	Silent	SNP	ENST00000253144.9	37	CCDS33102.1																																																																																			A|0.890;G|0.110	0.110	strong		0.483	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		G	54080999	A	G	54080999	2	3	22	1	0	0	0	0	0	0	0	1	17846	320	12	2		2	ZNF331	19	54080999	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	720	54080999	5047984	10200	15308										
NLRP12	91662	hgsc.bcm.edu	37	chr19	54327313	54327313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggggatcttgccttctCccagctctgtcgcggtcccc	10	18	3	0	rs34436714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54327313C>A	ENST00000324134.6	-	1	284	c.116G>T	c.(115-117)gGa>gTa	p.G39V	NLRP12_ENST00000535162.1_Missense_Mutation_p.G39V|NLRP12_ENST00000391772.1_Missense_Mutation_p.G39V|NLRP12_ENST00000354278.3_Missense_Mutation_p.G39V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G39V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G39V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G39V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G39V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	39	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		G -> V (in dbSNP:rs34436714).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGCCTTCTCCCAGCTCTGT	0.607													C|||	1280	0.255591	0.3858	0.2291	5008	,	,		16894	0.1776		0.2008	False		,,,				2504	0.2352				p.K39M		Atlas-SNP	.											.	NLRP12	236	.	0			c.A116T						PASS	.	C	VAL/GLY	1619,2787	499.3+/-364.4	299,1021,883	62	58	60		116	4.5	0.1	19	dbSNP_126	60	1851,6749	329.8+/-318.9	195,1461,2644	yes	missense	NLRP12	NM_144687.2	109	494,2482,3527	AA,AC,CC		21.5233,36.7453,26.68	probably-damaging	39/1062	54327313	3470,9536	2203	4300	6503	SO:0001583	missense	91662	exon1			CCTTCTCCCAGCT	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.116G>T	19.37:g.54327313C>A	ENSP00000319377:p.Gly39Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	147	67	0.455782	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	536	0.2454212454212454	213	0.4329268292682927	87	0.24033149171270718	83	0.1451048951048951	153	0.20184696569920843	C	13.08	2.130976	0.37630	0.367453	0.215233	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	4.48	4.48	0.54585	Pyrin (2);DEATH-like (2);	0.183793	0.25991	N	0.027001	T	0.00012	0.0000	L	0.60845	1.875	0.09310	P	0.9999999899703	B;B;B;B	0.25772	0.134;0.028;0.111;0.051	B;B;B;B	0.25614	0.052;0.021;0.062;0.03	T	0.38672	-0.9650	9	0.36615	T	0.2	.	13.0212	0.58789	0.0:1.0:0.0:0.0	rs34436714;rs58032372;rs34436714	39;39;39;39	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	39	ENSP00000319377:G39V;ENSP00000438030:G39V;ENSP00000340473:G39V;ENSP00000346231:G39V;ENSP00000375655:G39V;ENSP00000375653:G39V;ENSP00000375652:G39V	ENSP00000319377:G39V	G	-	2	0	NLRP12	59019125	0.013000	0.17824	0.079000	0.20413	0.188000	0.23474	1.465000	0.35299	2.224000	0.72417	0.305000	0.20034	GGA	C|0.741;A|0.259	0.259	strong		0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54327313	C	A	54327313	3	1	22	1	0	0	0	0	1	0	0	0	10474	855	30	4	3205	4	NLRP12	19	54327313	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	246314	54327313	4801670	10201	15309										
PRKCG	5582	hgsc.bcm.edu	37	chr19	54410114	54410114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtgcacccggatgcccgcAgccccaccagcccagtgcct	10	20	0	0	rs73937614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54410114A>G	ENST00000263431.3	+	18	2341	c.2059A>G	c.(2059-2061)Agc>Ggc	p.S687G	CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Missense_Mutation_p.S538G|PRKCG_ENST00000540413.1_Missense_Mutation_p.S687G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	687					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGATGCCCGCAGCCCCACCAG	0.677											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	58	0.0115815	0.0408	0.0058	5008	,	,		12287	0.0		0.0	False		,,,				2504	0.0				p.S687G		Atlas-SNP	.											.	PRKCG	246	.	0			c.A2059G						PASS	.	A	GLY/SER	118,4288	81.9+/-120.4	1,116,2086	38	48	45		2059	2.1	1	19	dbSNP_130	45	1,8597		0,1,4298	yes	missense	PRKCG	NM_002739.3	56	1,117,6384	GG,GA,AA		0.0116,2.6782,0.9151	possibly-damaging	687/698	54410114	119,12885	2203	4299	6502	SO:0001583	missense	5582	exon18			GCCCGCAGCCCCA	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.2059A>G	19.37:g.54410114A>G	ENSP00000263431:p.Ser687Gly	Somatic	180	0	0	1000	WXS	Illumina HiSeq	Phase_I	208	89	0.427885	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	A	16.20	3.056968	0.55325	0.026782	1.16E-4	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70631	-0.5;-0.5;-0.5	4.23	2.1	0.27182	.	.	.	.	.	T	0.33527	0.0866	L	0.43152	1.355	0.24531	N	0.994117	B;B;B	0.26876	0.118;0.041;0.162	B;B;B	0.24394	0.017;0.004;0.053	T	0.45041	-0.9288	9	0.59425	D	0.04	.	4.5914	0.12307	0.7265:0.0:0.0996:0.1739	.	538;687;687	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	G	687;687;538	ENSP00000443493:S687G;ENSP00000263431:S687G;ENSP00000438090:S538G	ENSP00000263431:S687G	S	+	1	0	PRKCG	59101926	0.991000	0.36638	1.000000	0.80357	0.980000	0.70556	1.765000	0.38481	0.752000	0.32923	-0.496000	0.04628	AGC	A|0.993;G|0.007	0.007	strong		0.677	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		G	54410114	A	G	54410114	3	3	22	1	0	0	0	0	1	0	0	0	12512	188	7	3	2129	3	PRKCG	19	54410114	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82801	54410114	4718869	10202	15310										
CACNG6	59285	hgsc.bcm.edu	37	chr19	54501527	54501527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tattttaaattcttcaccacGggggagaatgcacgcatctt	8	9	3	1	rs34604090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54501527G>A	ENST00000252729.2	+	2	956	c.366G>A	c.(364-366)acG>acA	p.T122T	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Silent_p.T122T	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	122					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TCTTCACCACGGGGGAGAATG	0.522													G|||	454	0.090655	0.2126	0.0591	5008	,	,		18577	0.0258		0.0586	False		,,,				2504	0.0481				p.T122T		Atlas-SNP	.											CACNG6,colon,carcinoma,0,1	CACNG6	42	1	0			c.G366A						PASS	.	G	,,	850,3556		84,682,1437	104	91	95		,366,366	0.6	1	19	dbSNP_126	95	610,7990		23,564,3713	no	intron,coding-synonymous,coding-synonymous	CACNG6	NM_031897.2,NM_145814.1,NM_145815.1	,,	107,1246,5150	AA,AG,GG		7.093,19.2919,11.2256	,,	,122/261,122/215	54501527	1460,11546	2203	4300	6503	SO:0001819	synonymous_variant	59285	exon2			CACCACGGGGGAG	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.366G>A	19.37:g.54501527G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	18	0.310345	NM_145815		Silent	SNP	ENST00000252729.2	37	CCDS12870.1																																																																																			G|0.899;A|0.101	0.101	strong		0.522	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			A	54501527	G	A	54501527	2	1	22	1	0	0	0	0	0	0	0	1	2561	1103	39	1		1	CACNG6	19	54501527	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	91413	54501527	4627456	10203	15311										
CACNG6	59285	hgsc.bcm.edu	37	chr19	54501540	54501540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccacgggggagaatgcaCgcatctttcagagaaccaca	10	12	3	2	rs78495589	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54501540C>T	ENST00000252729.2	+	2	969	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	CACNG6_ENST00000346968.2_Missense_Mutation_p.R127C|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	127					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GGAGAATGCACGCATCTTTCA	0.502													C|||	79	0.0157748	0.0567	0.0058	5008	,	,		18465	0.0		0.0	False		,,,				2504	0.0				p.R127C		Atlas-SNP	.											.	CACNG6	42	.	0			c.C379T						PASS	.	C	,CYS/ARG,CYS/ARG	179,4227		5,169,2029	104	93	97		,379,379	5.4	0.2	19	dbSNP_131	97	1,8599		0,1,4299	yes	intron,missense,missense	CACNG6	NM_031897.2,NM_145814.1,NM_145815.1	,180,180	5,170,6328	TT,TC,CC		0.0116,4.0626,1.384	,possibly-damaging,possibly-damaging	,127/261,127/215	54501540	180,12826	2203	4300	6503	SO:0001583	missense	59285	exon2			AATGCACGCATCT	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.379C>T	19.37:g.54501540C>T	ENSP00000252729:p.Arg127Cys	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	56	38	0.678571	NM_145815		Missense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	30	0.013736263736263736	29	0.05894308943089431	1	0.0027624309392265192	0	0.0	0	0.0	.	16.01	3.000193	0.54147	0.040626	1.16E-4	ENSG00000130433	ENST00000252729;ENST00000346968	T;T	0.31769	1.48;1.48	5.36	5.36	0.76844	.	0.633990	0.14809	N	0.297160	T	0.03608	0.0103	N	0.22421	0.69	0.40471	D	0.980344	D;D	0.61697	0.987;0.99	P;P	0.48114	0.555;0.567	T	0.01039	-1.1472	10	0.62326	D	0.03	-13.2984	14.9705	0.71229	0.0:1.0:0.0:0.0	.	127;127	A6NFR2;Q9BXT2	.;CCG6_HUMAN	C	127	ENSP00000252729:R127C;ENSP00000319097:R127C	ENSP00000252729:R127C	R	+	1	0	CACNG6	59193352	0.024000	0.19004	0.244000	0.24202	0.499000	0.33736	2.549000	0.45803	2.685000	0.91497	0.655000	0.94253	CGC	C|0.986;T|0.014	0.014	strong		0.502	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			T	54501540	C	T	54501540	3	4	22	1	0	0	0	0	1	0	0	0	2561	536	19	1	385	1	CACNG6	19	54501540	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	54501540	4627443	10204	15312										
VSTM1	284415	hgsc.bcm.edu	37	chr19	54561792	54561792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcagggtcacattgctctcGgcttcaaccaccgagctggg	11	13	4	0	rs11669427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54561792G>A	ENST00000338372.2	-	3	298	c.123C>T	c.(121-123)gcC>gcT	p.A41A	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.A41A|VSTM1_ENST00000425006.2_Silent_p.A41A	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	41	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CATTGCTCTCGGCTTCAACCA	0.517													G|||	796	0.158946	0.0386	0.1888	5008	,	,		14443	0.1736		0.2336	False		,,,				2504	0.2086				p.A41A		Atlas-SNP	.											.	VSTM1	30	.	0			c.C123T						PASS	.	G		293,4113	159.6+/-192.1	8,277,1918	94	95	95		123	-7	0	19	dbSNP_120	95	1984,6616	347.8+/-326.7	206,1572,2522	no	coding-synonymous	VSTM1	NM_198481.3		214,1849,4440	AA,AG,GG		23.0698,6.65,17.5073		41/237	54561792	2277,10729	2203	4300	6503	SO:0001819	synonymous_variant	284415	exon3			GCTCTCGGCTTCA	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.123C>T	19.37:g.54561792G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_198481	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	CCDS12872.1																																																																																			G|0.824;A|0.176	0.176	strong		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		A	54561792	G	A	54561792	2	1	22	1	0	0	0	0	0	0	0	1	17225	1103	39	1		1	VSTM1	19	54561792	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60252	54561792	4567191	10205	15313										
OSCAR	126014	hgsc.bcm.edu	37	chr19	54599119	54599119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggcggaggaggcgggccGggcctcagggccctcacctt	19	13	2	0	rs1110643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54599119G>A	ENST00000284648.6	-	5	870	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	OSCAR_ENST00000351806.4_Intron|OSCAR_ENST00000391761.1_Missense_Mutation_p.R214W|OSCAR_ENST00000391760.1_3'UTR|OSCAR_ENST00000356532.3_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.R229W|OSCAR_ENST00000358375.4_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	225						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					gaggcgggccgggCCTCAGGG	0.697													G|||	37	0.00738818	0.0272	0.0014	5008	,	,		11125	0.0		0.0	False		,,,				2504	0.0				p.R229W		Atlas-SNP	.											.	OSCAR	22	.	0			c.C685T						PASS	.	G	,,,TRP/ARG	77,4115		0,77,2019	7	8	8		,,,685	-4.1	0	19	dbSNP_86	8	0,8172		0,0,4086	yes	intron,intron,intron,missense	OSCAR	NM_130771.3,NM_133168.3,NM_133169.3,NM_206818.1	,,,101	0,77,6105	AA,AG,GG		0.0,1.8368,0.6228	,,,benign	,,,229/287	54599119	77,12287	2096	4086	6182	SO:0001583	missense	126014	exon5			CGGGCCGGGCCTC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.673C>T	19.37:g.54599119G>A	ENSP00000365808:p.Arg225Trp	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	96	53	0.552083	NM_206818	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37		12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	14.75	2.627173	0.46944	0.018368	0.0	ENSG00000170909	ENST00000391761;ENST00000359649;ENST00000284648	T;T;T	0.00524	6.82;6.85;6.83	2.03	-4.06	0.03986	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	0.999999	D;D;D	0.71674	0.997;0.998;0.996	B;P;P	0.50136	0.428;0.632;0.48	T	0.40664	-0.9551	9	0.02654	T	1	.	0.9438	0.01361	0.1669:0.2216:0.3875:0.2239	rs1110643	225;214;229	Q8IYS5;Q8IYS5-4;Q8IYS5-7	OSCAR_HUMAN;.;.	W	214;229;225	ENSP00000375641:R214W;ENSP00000352671:R229W;ENSP00000365808:R225W	ENSP00000365808:R225W	R	-	1	2	OSCAR	59290931	0.010000	0.17322	0.005000	0.12908	0.115000	0.19883	-0.599000	0.05700	-0.941000	0.03700	0.289000	0.19496	CGG	G|0.993;A|0.007	0.007	strong		0.697	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		A	54599119	G	A	54599119	3	1	22	1	0	0	0	0	1	0	0	0	11285	1115	39	1	320	1	OSCAR	19	54599119	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37327	54599119	4529864	10206	15314										
TMC4	147798	hgsc.bcm.edu	37	chr19	54665970	54665970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtcgggcacctggaactcCtgggtccccgccagacgacc	12	17	0	1	rs36655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54665970C>T	ENST00000376591.4	-	11	1703	c.1572G>A	c.(1570-1572)caG>caA	p.Q524Q	TMC4_ENST00000416963.1_Silent_p.Q106Q|TMC4_ENST00000301187.4_Silent_p.Q518Q|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	524					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGGAACTCCTGGGTCCCCG	0.687													C|||	1237	0.247005	0.1808	0.2464	5008	,	,		9717	0.1558		0.328	False		,,,				2504	0.3476				p.Q524Q		Atlas-SNP	.											.	TMC4	89	.	0			c.G1572A						PASS	.	C	,	898,3500		88,722,1389	28	30	29		1572,1554	4.7	1	19	dbSNP_76	29	2769,5831		434,1901,1965	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	522,2623,3354	TT,TC,CC		32.1977,20.4184,28.212	,	524/713,518/707	54665970	3667,9331	2199	4300	6499	SO:0001819	synonymous_variant	147798	exon11			GAACTCCTGGGTC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1572G>A	19.37:g.54665970C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	32	15	0.46875	NM_001145303	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	CCDS46174.1																																																																																			C|0.743;T|0.257	0.257	strong		0.687	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			T	54665970	C	T	54665970	2	4	22	1	0	0	0	0	0	0	0	1	15984	680	24	2		2	TMC4	19	54665970	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66851	54665970	4463013	10207	15315										
MBOAT7	79143	hgsc.bcm.edu	37	chr19	54682538	54682538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atatactgcgccagccaccaCtgcaccgtcatgttccagta	7	15	1	0	rs116423748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54682538C>T	ENST00000245615.1	-	7	1455	c.975G>A	c.(973-975)caG>caA	p.Q325Q	MBOAT7_ENST00000431666.2_Silent_p.Q252Q|MBOAT7_ENST00000338624.6_Silent_p.Q252Q|MBOAT7_ENST00000391754.1_Silent_p.Q325Q	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	325					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGCCACCACTGCACCGTCA	0.567													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.0				p.Q325Q	NSCLC(97;826 2151 10470 22540)	Atlas-SNP	.											.	MBOAT7	37	.	0			c.G975A						PASS	.	C	,,,	116,4290	86.3+/-125.0	2,112,2089	85	63	70		756,975,756,975	2.5	1	19	dbSNP_132	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBOAT7	NM_001146056.1,NM_001146082.1,NM_001146083.1,NM_024298.3	,,,	2,113,6388	TT,TC,CC		0.0116,2.6328,0.8996	,,,	252/400,325/345,252/400,325/473	54682538	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	79143	exon7			CCACCACTGCACC	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.975G>A	19.37:g.54682538C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	121	61	0.504132	NM_001146082	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	CCDS12883.1																																																																																			C|0.991;T|0.009	0.009	strong		0.567	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		T	54682538	C	T	54682538	2	4	22	1	0	0	0	0	0	0	0	1	9358	564	20	2		2	MBOAT7	19	54682538	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16568	54682538	4446445	10208	15316										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54720967	54720967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcgtaccccccgggctagtGgatggccagagtggcgtaga	16	11	0	2	rs114510580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54720967G>A	ENST00000391750.1	-	14	2027	c.1891C>T	c.(1891-1893)Cac>Tac	p.H631Y	LILRB3_ENST00000245620.9_Missense_Mutation_p.H632Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.H648Y|LILRB3_ENST00000346401.6_Missense_Mutation_p.H643Y|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000440558.2_Missense_Mutation_p.H631Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.H632Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.H632Y|LILRB3_ENST00000424807.1_Missense_Mutation_p.H631Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	631					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGGCTAGTGGATGGCCAGA	0.627													.|||	171	0.0341454	0.1271	0.0043	5008	,	,		17170	0.0		0.0	False		,,,				2504	0.0				p.H632Y		Atlas-SNP	.											.	LILRB3	67	.	0			c.C1894T						PASS	.	G	TYR/HIS,TYR/HIS	442,3964	213.5+/-233.1	18,406,1779	90	84	86		1894,1891	0.7	0	19	dbSNP_132	86	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	83,83	18,409,6076	AA,AG,GG		0.0349,10.0318,3.4215	probably-damaging,probably-damaging	632/633,631/632	54720967	445,12561	2203	4300	6503	SO:0001583	missense	11025	exon13			GCTAGTGGATGGC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1891C>T	19.37:g.54720967G>A	ENSP00000375630:p.His631Tyr	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	333	140	0.42042	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	60	0.027472527472527472	57	0.11585365853658537	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	13.16	2.154570	0.38021	0.100318	3.49E-4	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00630	6.11;6.11;6.17;6.13;6.16;6.1;6.11;6.14	2.92	0.672	0.17935	.	.	.	.	.	T	0.00039	0.0001	M	0.73598	2.24	0.09310	N	1	D;P;B;P;P;P;P	0.71674	0.998;0.644;0.226;0.956;0.791;0.721;0.849	D;B;B;P;B;B;P	0.79784	0.993;0.425;0.064;0.61;0.324;0.056;0.555	T	0.52845	-0.8521	9	0.87932	D	0	.	2.9682	0.05915	0.1554:0.0:0.5739:0.2707	.	648;631;632;643;648;631;632	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	Y	631;631;643;632;648;631;632;632	ENSP00000375630:H631Y;ENSP00000412771:H631Y;ENSP00000345184:H643Y;ENSP00000245620:H632Y;ENSP00000384274:H648Y;ENSP00000390120:H631Y;ENSP00000270464:H632Y;ENSP00000411227:H632Y	ENSP00000270464:H632Y	H	-	1	0	LILRB3;LILRA6	59412779	0.015000	0.18098	0.004000	0.12327	0.059000	0.15707	2.746000	0.47467	0.274000	0.22072	0.472000	0.43445	CAC	G|0.962;A|0.038	0.038	strong		0.627	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54720967	G	A	54720967	3	1	22	1	0	0	0	0	1	0	0	0	8792	1348	47	2	8	2	LILRB3	19	54720967	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38429	54720967	4408016	10209	15317										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721049	54721049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcagttgccttccgtctAagggtcaagctgtgcagctg	13	11	3	0	rs60566950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54721049A>G	ENST00000391750.1	-	14	1945	c.1809T>C	c.(1807-1809)ctT>ctC	p.L603L	LILRB3_ENST00000424807.1_Silent_p.L603L|LILRA6_ENST00000419410.2_Silent_p.L604L|LILRA6_ENST00000270464.5_Silent_p.L604L|LILRB3_ENST00000346401.6_Silent_p.L615L|LILRB3_ENST00000245620.9_Silent_p.L604L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Silent_p.L620L|LILRA6_ENST00000440558.2_Silent_p.L603L|LILRA6_ENST00000391735.3_3'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	603					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTTCCGTCTAAGGGTCAAGC	0.632													.|||	155	0.0309505	0.0998	0.0086	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0174				p.L604L		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	0			c.T1812C						scavenged	.	A	,	147,4257		24,99,2079	104	105	104		1812,1809	0.8	0	19	dbSNP_129	104	5,8595		0,5,4295	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	24,104,6374	GG,GA,AA		0.0581,3.3379,1.1689	,	604/633,603/632	54721049	152,12852	2202	4300	6502	SO:0001819	synonymous_variant	11025	exon13			CCGTCTAAGGGTC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1809T>C	19.37:g.54721049A>G		Somatic	423	5	0.0118203		WXS	Illumina HiSeq	Phase_I	479	244	0.509395	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			A|0.980;G|0.020	0.020	strong		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		G	54721049	A	G	54721049	2	3	22	1	0	0	0	0	0	0	0	1	8792	349	13	2		2	LILRB3	19	54721049	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82	54721049	4407934	10210	15318										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721272	54721272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgaggagggaggagaggcCatttctctcctaggactgga	16	7	1	2	rs114189491	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54721272C>T	ENST00000391750.1	-	13	1801	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	LILRB3_ENST00000245620.9_Missense_Mutation_p.M556I|LILRB3_ENST00000407860.2_Missense_Mutation_p.M572I|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.M567I|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.M556I|LILRB3_ENST00000424807.1_Missense_Mutation_p.M555I|LILRA6_ENST00000440558.2_Missense_Mutation_p.M555I|LILRA6_ENST00000270464.5_Missense_Mutation_p.M556I			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	555					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGAGAGGCCATTTCTCTCC	0.577													.|||	174	0.0347444	0.1293	0.0043	5008	,	,		17886	0.0		0.0	False		,,,				2504	0.0				p.M556I		Atlas-SNP	.											.	LILRB3	67	.	0			c.G1668A						PASS	.	C	ILE/MET,ILE/MET	451,3953	216.4+/-235.1	26,399,1777	130	130	130		1668,1665	-0.9	0	19	dbSNP_132	130	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	10,10	26,402,6074	TT,TC,CC		0.0349,10.2407,3.4912	benign,benign	556/633,555/632	54721272	454,12550	2202	4300	6502	SO:0001583	missense	11025	exon12			AGAGGCCATTTCT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1665G>A	19.37:g.54721272C>T	ENSP00000375630:p.Met555Ile	Somatic	602	0	0		WXS	Illumina HiSeq	Phase_I	418	208	0.497608	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	63	0.028846153846153848	62	0.12601626016260162	1	0.0027624309392265192	0	0.0	0	0.0	C	12.21	1.870077	0.33069	0.102407	3.49E-4	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00477	7.16;7.16;7.14;7.17;7.14;7.16;7.16;7.18	2.45	-0.895	0.10560	.	.	.	.	.	T	0.00012	0.0000	L	0.50919	1.6	0.09310	N	1	D;B;B;B;B;B;P	0.56287	0.975;0.39;0.197;0.121;0.014;0.006;0.78	D;B;B;B;B;B;P	0.65684	0.937;0.026;0.109;0.015;0.002;0.001;0.458	T	0.55179	-0.8181	9	0.54805	T	0.06	.	2.7524	0.05284	0.0:0.4373:0.2613:0.3014	.	572;555;556;567;572;555;556	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	I	555;555;567;556;572;555;556;556	ENSP00000375630:M555I;ENSP00000412771:M555I;ENSP00000345184:M567I;ENSP00000245620:M556I;ENSP00000384274:M572I;ENSP00000390120:M555I;ENSP00000270464:M556I;ENSP00000411227:M556I	ENSP00000270464:M556I	M	-	3	0	LILRB3;LILRA6	59413084	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.049000	0.11924	-0.089000	0.12484	0.121000	0.15741	ATG	C|0.961;T|0.039	0.039	strong		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54721272	C	T	54721272	3	4	22	1	0	0	0	0	1	0	0	0	8792	594	21	2	238	2	LILRB3	19	54721272	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	223	54721272	4407711	10211	15319										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721320	54721320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accggggcatacgtcactgcCtgggggtcttcatcgtgtgg	15	11	3	0	rs1053002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54721320C>G	ENST00000391750.1	-	13	1753	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H	LILRB3_ENST00000424807.1_Missense_Mutation_p.Q539H|LILRA6_ENST00000419410.2_Missense_Mutation_p.Q540H|LILRA6_ENST00000270464.5_Missense_Mutation_p.Q540H|LILRB3_ENST00000346401.6_Missense_Mutation_p.Q551H|LILRB3_ENST00000245620.9_Missense_Mutation_p.Q540H|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.Q556H|LILRA6_ENST00000440558.2_Missense_Mutation_p.Q539H|LILRA6_ENST00000391735.3_3'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	539			Q -> H (in dbSNP:rs1053002). {ECO:0000269|PubMed:9548455}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGTCACTGCCTGGGGGTCTT	0.577																																					p.Q540H		Atlas-SNP	.											LILRB3,NS,carcinoma,-2,1	LILRB3	67	1	0			c.G1620C						PASS	.						97	102	100					19																	54721320		2202	4300	6502	SO:0001583	missense	11025	exon12			CACTGCCTGGGGG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1617G>C	19.37:g.54721320C>G	ENSP00000375630:p.Gln539His	Somatic	610	0	0		WXS	Illumina HiSeq	Phase_I	447	115	0.257271	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	256	0.11721611721611722	140	0.2845528455284553	37	0.10220994475138122	3	0.005244755244755245	76	0.10026385224274406	C	6.747	0.506690	0.12883	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00531	6.77;6.77;6.79;6.78;6.84;6.76;6.77;6.79	2.47	-2.73	0.05950	.	.	.	.	.	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	B;D;B;B;D;D;D	0.76494	0.095;0.988;0.226;0.004;0.967;0.999;0.994	B;P;B;B;P;P;D	0.68765	0.028;0.816;0.068;0.007;0.77;0.894;0.96	T	0.51403	-0.8710	8	0.59425	D	0.04	.	2.8244	0.05481	0.2046:0.4038:0.0:0.3916	rs1053002;rs3193491	556;539;540;551;556;539;540	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	H	539;539;551;540;556;539;540;540	ENSP00000375630:Q539H;ENSP00000412771:Q539H;ENSP00000345184:Q551H;ENSP00000245620:Q540H;ENSP00000384274:Q556H;ENSP00000390120:Q539H;ENSP00000270464:Q540H;ENSP00000411227:Q540H	ENSP00000270464:Q540H	Q	-	3	2	LILRB3;LILRA6	59413132	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.903000	0.04084	-0.478000	0.06823	0.413000	0.27773	CAG	C|0.891;G|0.109	0.109	strong		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		G	54721320	C	G	54721320	3	3	22	1	0	0	0	0	1	0	0	0	8792	680	24	4	286	4	LILRB3	19	54721320	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48	54721320	4407663	10212	15320										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721337	54721337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctgggggtcttcatcgtGtgggctctgctggagagaga	17	8	3	2	rs75437884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54721337G>A	ENST00000391750.1	-	13	1736	c.1600C>T	c.(1600-1602)Cac>Tac	p.H534Y	LILRB3_ENST00000245620.9_Missense_Mutation_p.H535Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.H551Y|LILRB3_ENST00000346401.6_Missense_Mutation_p.H546Y|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.H534Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.H535Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.H535Y|LILRB3_ENST00000424807.1_Missense_Mutation_p.H534Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	534					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCATCGTGTGGGCTCTGC	0.577																																					p.H535Y		Atlas-SNP	.											LILRB3,NS,lymphoid_neoplasm,+2,1	LILRB3	67	1	0			c.C1603T						PASS	.	G	TYR/HIS,TYR/HIS	47,4355	43.1+/-76.7	0,47,2154	76	81	80		1603,1600	-1.2	0	19	dbSNP_131	80	1,8597		0,1,4298	no	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	83,83	0,48,6452	AA,AG,GG		0.0116,1.0677,0.3692	possibly-damaging,possibly-damaging	535/633,534/632	54721337	48,12952	2201	4299	6500	SO:0001583	missense	11025	exon12			CATCGTGTGGGCT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1600C>T	19.37:g.54721337G>A	ENSP00000375630:p.His534Tyr	Somatic	534	0	0		WXS	Illumina HiSeq	Phase_I	384	90	0.234375	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	G	10.80	1.452361	0.26074	0.010677	1.16E-4	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00487	7.1;7.1;7.07;7.07;7.05;7.1;7.07;7.09	2.47	-1.25	0.09405	.	.	.	.	.	T	0.00384	0.0012	L	0.54323	1.7	0.09310	N	1	D;B;D;P;B;P;P	0.56968	0.969;0.009;0.978;0.832;0.411;0.536;0.593	P;B;P;B;B;B;B	0.51615	0.65;0.004;0.675;0.249;0.059;0.031;0.32	T	0.51164	-0.8740	9	0.33141	T	0.24	.	5.0801	0.14651	0.1499:0.4983:0.3518:0.0	.	551;534;535;546;551;534;535	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	Y	534;534;546;535;551;534;535;535	ENSP00000375630:H534Y;ENSP00000412771:H534Y;ENSP00000345184:H546Y;ENSP00000245620:H535Y;ENSP00000384274:H551Y;ENSP00000390120:H534Y;ENSP00000270464:H535Y;ENSP00000411227:H535Y	ENSP00000270464:H535Y	H	-	1	0	LILRB3;LILRA6	59413149	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.974000	0.03794	-0.122000	0.11766	-0.506000	0.04501	CAC	G|0.996;A|0.004	0.004	strong		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54721337	G	A	54721337	3	1	22	1	0	0	0	0	1	0	0	0	8792	1377	48	2	303	2	LILRB3	19	54721337	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17	54721337	4407646	10213	15321										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54722250	54722250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgactgtccagctccacccTgtcctcagactgtgtgtcct	8	16	1	2	rs1132610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54722250T>C	ENST00000391750.1	-	12	1709	c.1573A>G	c.(1573-1575)Agg>Ggg	p.R525G	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.R525G|LILRB3_ENST00000407860.2_Missense_Mutation_p.R542G|LILRB3_ENST00000346401.6_Missense_Mutation_p.R537G|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.R525G|LILRB3_ENST00000424807.1_Missense_Mutation_p.R525G|LILRA6_ENST00000440558.2_Missense_Mutation_p.R525G|LILRA6_ENST00000270464.5_Missense_Mutation_p.R525G			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	525				R -> G (in Ref. 2; AAB87667). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCTCCACCCTGTCCTCAGAC	0.617													.|||	740	0.147764	0.3525	0.1354	5008	,	,		18421	0.002		0.1103	False		,,,				2504	0.0685				p.R525G		Atlas-SNP	.											LILRB3,colon,carcinoma,+2,1	LILRB3	67	1	0			c.A1573G						PASS	.	G	GLY/ARG,GLY/ARG	1383,3023		239,905,1059	119	102	108		1573,1573	-0.3	0	19	dbSNP_86	108	1039,7561		58,923,3319	yes	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	125,125	297,1828,4378	CC,CT,TT		12.0814,31.389,18.6222	benign,benign	525/633,525/632	54722250	2422,10584	2203	4300	6503	SO:0001583	missense	11025	exon11			CCACCCTGTCCTC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1573A>G	19.37:g.54722250T>C	ENSP00000375630:p.Arg525Gly	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	268	127	0.473881	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	294	0.1346153846153846	176	0.35772357723577236	42	0.11602209944751381	2	0.0034965034965034965	74	0.09762532981530343	G	0.006	-2.043597	0.00398	0.31389	0.120814	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00454	7.49;7.49;7.36;7.47;7.32;7.48;7.49;7.49	3.11	-0.331	0.12679	.	.	.	.	.	T	0.00012	0.0000	N	0.00221	-1.82	0.80722	P	0.0	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.0;0.001;0.0;0.007;0.003;0.001;0.001	T	0.25047	-1.0143	8	0.02654	T	1	.	4.2725	0.10794	0.0:0.4068:0.3677:0.2255	rs1132610;rs3193489;rs52834610;rs58789613	542;525;525;537;542;525;525	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	G	525;525;537;525;542;525;525;525	ENSP00000375630:R525G;ENSP00000412771:R525G;ENSP00000345184:R537G;ENSP00000245620:R525G;ENSP00000384274:R542G;ENSP00000390120:R525G;ENSP00000270464:R525G;ENSP00000411227:R525G	ENSP00000270464:R525G	R	-	1	2	LILRB3;LILRA6	59414062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.023000	0.01438	-0.189000	0.10482	-3.810000	0.00019	AGG	T|0.826;C|0.174	0.174	strong		0.617	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		C	54722250	T	C	54722250	3	2	22	1	0	0	0	0	1	0	0	0	8792	1579	55	3	337	3	LILRB3	19	54722250	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	913	54722250	4406733	10214	15322										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54725019	54725019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagaggttgtgtgcaccGtagcacctgtactggccccc	14	12	0	1	rs78279726	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54725019G>A	ENST00000391750.1	-	6	1027	c.891C>T	c.(889-891)taC>taT	p.Y297Y	LILRB3_ENST00000245620.9_Silent_p.Y297Y|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Silent_p.Y297Y|LILRB3_ENST00000346401.6_Silent_p.Y297Y|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Silent_p.Y297Y|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Silent_p.Y297Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	297	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGTGCACCGTAGCACCTGT	0.682													.|||	1595	0.31849	0.2345	0.3069	5008	,	,		6728	0.5506		0.3211	False		,,,				2504	0.1984				p.Y297Y		Atlas-SNP	.											.	LILRB3	67	.	0			c.C891T						PASS	.	G	,	679,2939		111,457,1241	24	22	23		891,891	-3.6	0.1	19	dbSNP_131	23	369,3609		134,101,1754	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	245,558,2995	AA,AG,GG		9.276,18.7673,13.7967	,	297/633,297/632	54725019	1048,6548	1809	1989	3798	SO:0001819	synonymous_variant	11025	exon5			TGCACCGTAGCAC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.891C>T	19.37:g.54725019G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	300	122	0.406667	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			G|0.702;A|0.298	0.298	strong		0.682	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725019	G	A	54725019	2	1	22	1	0	0	0	0	0	0	0	1	8792	1140	40	1		1	LILRB3	19	54725019	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2769	54725019	4403964	10215	15323										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54725913	54725913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaacaaaatggtgatatcCcttctgtgagccacatcgga	9	10	1	3	rs199822090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54725913C>T	ENST00000391750.1	-	5	581	c.445G>A	c.(445-447)Gga>Aga	p.G149R	LILRA6_ENST00000391735.3_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000245620.9_Missense_Mutation_p.G149R|LILRB3_ENST00000407860.2_Missense_Mutation_p.G149R|LILRB3_ENST00000346401.6_Missense_Mutation_p.G149R|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G149R|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	149	Ig-like C2-type 2.			G -> R (in Ref. 2; AAB87667). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTGATATCCCTTCTGTGAG	0.597													.|||	783	0.15635	0.3411	0.1715	5008	,	,		12077	0.002		0.1362	False		,,,				2504	0.0757				p.G149R		Atlas-SNP	.											.	LILRB3	67	.	0			c.G445A						PASS	.						23	15	18					19																	54725913		2079	3867	5946	SO:0001583	missense	11025	exon4			GATATCCCTTCTG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.445G>A	19.37:g.54725913C>T	ENSP00000375630:p.Gly149Arg	Somatic	491	0	0		WXS	Illumina HiSeq	Phase_I	544	115	0.211397	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	6.911	0.537697	0.13188	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000445347	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;5.76	2.87	-5.75	0.02384	Immunoglobulin-like fold (1);	2.192950	0.01626	N	0.023278	T	0.07683	0.0193	L	0.37800	1.135	0.80722	P	0.0	B;B;P;P;P	0.41546	0.218;0.08;0.555;0.754;0.68	B;B;B;B;B	0.39094	0.271;0.132;0.29;0.049;0.209	T	0.17258	-1.0375	9	0.41790	T	0.15	.	1.2731	0.02025	0.1365:0.1909:0.2699:0.4027	.	149;149;149;149;149	B5MCX0;F8WD89;O75022-2;O75022;O75022-3	.;.;.;LIRB3_HUMAN;.	R	149	ENSP00000375630:G149R;ENSP00000412771:G149R;ENSP00000345184:G149R;ENSP00000245620:G149R;ENSP00000384274:G149R;ENSP00000388199:G149R	ENSP00000245620:G149R	G	-	1	0	LILRB3	59417725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.520000	0.00951	-1.631000	0.01543	-0.510000	0.04470	GGA	C|0.931;T|0.069	0.069	strong		0.597	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54725913	C	T	54725913	3	4	22	1	0	0	0	0	1	0	0	0	8792	632	22	2	1493	2	LILRB3	19	54725913	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	894	54725913	4403070	10216	15324										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54726237	54726237	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatctccctgcatggtgctCtgtcatggatgggatggaga	14	8	3	1	rs138323850		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54726237C>G	ENST00000391750.1	-	4	404	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	LILRA6_ENST00000391735.3_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000245620.9_Missense_Mutation_p.E90Q|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.E90Q|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.E90Q|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	90	Ig-like C2-type 1.		E -> Q (in dbSNP:rs1052963). {ECO:0000269|PubMed:9548455}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E90Q(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATGGTGCTCTGTCATGGAT	0.557																																					p.E90Q		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	1	Substitution - Missense(1)	prostate(1)	c.G268C						scavenged	.						87	123	111					19																	54726237		2019	4025	6044	SO:0001583	missense	11025	exon3			GGTGCTCTGTCAT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.268G>C	19.37:g.54726237C>G	ENSP00000375630:p.Glu90Gln	Somatic	1123	0	0		WXS	Illumina HiSeq	Phase_I	427	14	0.0327869	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	0.767	-0.767250	0.02974	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000445347	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	3.08	-6.17	0.02091	Immunoglobulin-like fold (1);	2.768340	0.01040	N	0.004297	T	0.09818	0.0241	L	0.39245	1.2	0.09310	N	1	B;B	0.22800	0.037;0.075	B;B	0.27608	0.002;0.081	T	0.31806	-0.9930	10	0.12103	T	0.63	.	3.0186	0.06067	0.1961:0.2034:0.4352:0.1653	.	90;90	O75022;O75022-3	LIRB3_HUMAN;.	Q	90	ENSP00000375630:E90Q;ENSP00000412771:E90Q;ENSP00000345184:E90Q;ENSP00000245620:E90Q;ENSP00000388199:E90Q	ENSP00000245620:E90Q	E	-	1	0	LILRB3	59418049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.048000	0.00156	-2.865000	0.00325	-0.957000	0.02645	GAG	C|0.333;G|0.667	0.667	strong		0.557	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		G	54726237	C	G	54726237	3	3	22	1	0	0	0	0	1	0	0	0	8792	922	32	4	1674	4	LILRB3	19	54726237	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	324	54726237	4402746	10217	15325										
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744182	54744182	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttccaggggctcactggggAaagacagcaggtgggggttg					rs3193485	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744182A>T	ENST00000396365.2	-	6	1265	c.1226T>A	c.(1225-1227)tTc>tAc	p.F409Y	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.F409Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.F409Y	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	409					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.F409Y(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCACTGGGGAAAGACAGCAG	0.622																																					p.F409Y		Atlas-SNP	.											LILRA6,nipple,malignant_melanoma,0,1	LILRA6	75	1	1	Substitution - Missense(1)	skin(1)	c.T1226A						scavenged	.						97	135	122					19																	54744182		2197	4300	6497	SO:0001583	missense	79168	exon6			CTGGGGAAAGACA	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1226T>A	19.37:g.54744182A>T	ENSP00000379651:p.Phe409Tyr	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	285	63	0.221053	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.262301	0.00021	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00717	5.79;5.79;5.79	2.71	-5.43	0.02632	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	12.755800	0.00166	N	0.000006	T	0.00845	0.0028	L	0.56199	1.76	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.06405	0.0;0.0;0.002	T	0.53641	-0.8410	10	0.09338	T	0.73	.	2.0397	0.03547	0.4944:0.1022:0.2479:0.1555	rs3193485	409;409;409	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	Y	409	ENSP00000411227:F409Y;ENSP00000379651:F409Y;ENSP00000245621:F409Y	ENSP00000245621:F409Y	F	-	2	0	LILRA6	59435994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.946000	0.00167	-4.280000	0.00059	-3.764000	0.00021	TTC	.	.	alt		0.622	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744182	A	T	54744182	3	4	22	1	0	0	0	0	1	0	0	0	8789	246	9	5	231	5	LILRA6	19	54744182	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	17945	54744182	4384801	10218	15326	318	2								
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744183	54744183	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccaggggctcactggggaAagacagcaggtgggggttgg					rs76090367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744183A>G	ENST00000396365.2	-	6	1264	c.1225T>C	c.(1225-1227)Ttc>Ctc	p.F409L	LILRA6_ENST00000419410.2_Missense_Mutation_p.F409L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.F409L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	409					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACTGGGGAAAGACAGCAGG	0.622																																					p.F409L		Atlas-SNP	.											LILRA6,nipple,malignant_melanoma,+1,1	LILRA6	75	1	0			c.T1225C						scavenged	.						96	134	121					19																	54744183		2197	4300	6497	SO:0001583	missense	79168	exon6			TGGGGAAAGACAG	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1225T>C	19.37:g.54744183A>G	ENSP00000379651:p.Phe409Leu	Somatic	333	1	0.003003		WXS	Illumina HiSeq	Phase_I	290	63	0.217241	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.439570	0.01098	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00686	5.85;5.85;5.85	2.71	-3.11	0.05299	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	12.755800	0.00166	N	0.000006	T	0.00440	0.0014	N	0.05031	-0.125	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46219	-0.9207	10	0.11485	T	0.65	.	0.5921	0.00730	0.2526:0.1884:0.3669:0.1921	.	409;409;409	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	L	409	ENSP00000411227:F409L;ENSP00000379651:F409L;ENSP00000245621:F409L	ENSP00000245621:F409L	F	-	1	0	LILRA6	59435995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.313000	0.08103	-0.667000	0.05303	-3.230000	0.00052	TTC	A|0.989;G|0.011	0.011	strong		0.622	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54744183	A	G	54744183	3	3	22	1	0	0	0	0	1	0	0	0	8789	14	1	2	232	2	LILRA6	19	54744183	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	54744183	4384800	10219	15327	318	2								
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744195	54744195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actggggaaagacagcaggtGggggttggagctgtatgagc	19	5	0	2	rs1132604	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744195G>A	ENST00000396365.2	-	6	1252	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.H405Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.H405Y	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	405	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.H405N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACAGCAGGTGGGGGTTGGAG	0.612													.|||	491	0.0980431	0.2927	0.049	5008	,	,		26348	0.0		0.0229	False		,,,				2504	0.0481				p.H405Y		Atlas-SNP	.											LILRA6,colon,carcinoma,+1,1	LILRA6	75	1	1	Substitution - Missense(1)	lung(1)	c.C1213T						scavenged	.						89	125	113					19																	54744195		2196	4300	6496	SO:0001583	missense	79168	exon6			GCAGGTGGGGGTT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1213C>T	19.37:g.54744195G>A	ENSP00000379651:p.His405Tyr	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	301	43	0.142857	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	102	0.046703296703296704	85	0.17276422764227642	10	0.027624309392265192	0	0.0	7	0.009234828496042216	G	0	-2.632637	0.00115	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00669	5.9;5.9;5.9	2.71	0.427	0.16489	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.167250	0.06702	N	0.771663	T	0.00012	0.0000	N	0.00413	-1.525	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38845	-0.9642	10	0.02654	T	1	.	5.898	0.18949	0.7984:0.0:0.2016:0.0	.	405;405;405	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	Y	405	ENSP00000411227:H405Y;ENSP00000379651:H405Y;ENSP00000245621:H405Y	ENSP00000245621:H405Y	H	-	1	0	LILRA6	59436007	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.810000	0.01729	-0.152000	0.11156	-2.766000	0.00121	CAC	G|0.954;A|0.046	0.046	strong		0.612	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744195	G	A	54744195	3	1	22	1	0	0	0	0	1	0	0	0	8789	1348	47	2	244	2	LILRA6	19	54744195	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	54744195	4384788	10220	15328										
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744209	54744209	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtgggggttggagctgTatgagccgtagcacctgtag	18	7	0	1	rs8105096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744209T>A	ENST00000396365.2	-	6	1238	c.1199A>T	c.(1198-1200)tAc>tTc	p.Y400F	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.Y400F|LILRA6_ENST00000245621.5_Missense_Mutation_p.Y400F	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	400	Ig-like C2-type 2.		Y -> H (in dbSNP:rs8104206).		immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTGGAGCTGTATGAGCCGTA	0.587													.|||	254	0.0507188	0.1853	0.0115	5008	,	,		25300	0.0		0.001	False		,,,				2504	0.0				p.Y400F		Atlas-SNP	.											.	LILRA6	75	.	0			c.A1199T						PASS	.						83	115	104					19																	54744209		2196	4300	6496	SO:0001583	missense	79168	exon6			GAGCTGTATGAGC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1199A>T	19.37:g.54744209T>A	ENSP00000379651:p.Tyr400Phe	Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	304	113	0.371711	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.514172	0.00151	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00724	5.78;5.78;5.78	2.39	-4.78	0.03209	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	6.834670	0.00465	N	0.000119	T	0.00524	0.0017	N	0.11284	0.12	0.09310	N	1	B;B;B	0.22480	0.003;0.07;0.001	B;B;B	0.19666	0.008;0.01;0.026	T	0.46219	-0.9207	10	0.11182	T	0.66	.	4.2854	0.10853	0.4618:0.0:0.2971:0.2411	rs8105096;rs16985495;rs16989282	400;400;400	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	F	400	ENSP00000411227:Y400F;ENSP00000379651:Y400F;ENSP00000245621:Y400F	ENSP00000245621:Y400F	Y	-	2	0	LILRA6	59436021	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.402000	0.00483	-4.296000	0.00058	-3.711000	0.00023	TAC	C|0.155;T|0.845	.	strong		0.587	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744209	T	A	54744209	3	1	22	1	0	0	0	0	1	0	0	0	8789	1638	57	5	258	5	LILRA6	19	54744209	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14	54744209	4384774	10221	15329										
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744771	54744771	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagaggttgtgtgcaccAtagcacctgtactggccccc					rs142457810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744771A>G	ENST00000396365.2	-	5	930	c.891T>C	c.(889-891)taT>taC	p.Y297Y	LILRA6_ENST00000419410.2_Silent_p.Y297Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.Y297Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Silent_p.Y297Y|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	297	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGTGCACCATAGCACCTGT	0.687																																					p.Y297Y		Atlas-SNP	.											.	LILRA6	75	.	0			c.T891C						PASS	.						57	71	67					19																	54744771		2203	4300	6503	SO:0001819	synonymous_variant	79168	exon5			TGCACCATAGCAC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.891T>C	19.37:g.54744771A>G		Somatic	380	1	0.00263158		WXS	Illumina HiSeq	Phase_I	471	124	0.26327	NM_024318		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																			A|0.570;G|0.430	0.430	strong		0.687	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54744771	A	G	54744771	2	3	22	1	0	0	0	0	0	0	0	1	8789	224	8	2		2	LILRA6	19	54744771	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	562	54744771	4384212	10222	15330	319	3								
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744772	54744772	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagaggttgtgtgcaccaTagcacctgtactggcccccg					rs77717986		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744772T>G	ENST00000396365.2	-	5	929	c.890A>C	c.(889-891)tAt>tCt	p.Y297S	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.Y297S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.Y297S|LILRA6_ENST00000245621.5_Missense_Mutation_p.Y297S	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	297	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTGCACCATAGCACCTGTA	0.682																																					p.Y297S		Atlas-SNP	.											.	LILRA6	75	.	0			c.A890C						PASS	.						57	71	67					19																	54744772		2203	4300	6503	SO:0001583	missense	79168	exon5			GCACCATAGCACC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.890A>C	19.37:g.54744772T>G	ENSP00000379651:p.Tyr297Ser	Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	475	64	0.134737	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	3.313	-0.140376	0.06669	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.22643	N	0.057421	T	0.24509	0.0594	M	0.68728	2.09	0.58432	D	0.999998	P;D;P;P	0.89917	0.674;1.0;0.63;0.674	P;D;P;B	0.91635	0.651;0.999;0.495;0.344	T	0.01266	-1.1401	10	0.48119	T	0.1	.	6.2058	0.20602	0.0:0.0:0.0:1.0	.	297;297;297;297	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	S	297	ENSP00000390120:Y297S;ENSP00000411227:Y297S;ENSP00000379651:Y297S;ENSP00000245621:Y297S	ENSP00000245621:Y297S	Y	-	2	0	LILRA6	59436584	0.024000	0.19004	0.735000	0.30896	0.045000	0.14185	0.527000	0.22987	1.233000	0.43693	0.136000	0.15936	TAT	.	.	weak		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54744772	T	G	54744772	3	3	22	1	0	0	0	0	1	0	0	0	8789	1406	49	5	571	5	LILRA6	19	54744772	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	54744772	4384211	10223	15331	319	3								
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744777	54744777	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggttgtgtgcaccatagcaCctgtactggcccccgtggga							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54744777C>T	ENST00000396365.2	-	5	924	c.885G>A	c.(883-885)agG>agA	p.R295R	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Silent_p.R295R|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.R295R|LILRA6_ENST00000245621.5_Silent_p.R295R	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	295	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCATAGCACCTGTACTGGC	0.677																																					p.R295R		Atlas-SNP	.											.	LILRA6	75	.	0			c.G885A						PASS	.						57	71	66					19																	54744777		2203	4300	6503	SO:0001819	synonymous_variant	79168	exon5			ATAGCACCTGTAC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.885G>A	19.37:g.54744777C>T		Somatic	396	0	0		WXS	Illumina HiSeq	Phase_I	477	65	0.136268	NM_024318		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																			.	.	weak		0.677	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744777	C	T	54744777	2	4	22	1	0	0	0	0	0	0	0	1	8789	506	18	2		2	LILRA6	19	54744777	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	54744777	4384206	10224	15332	319	3								
LILRA6	79168	hgsc.bcm.edu	37	chr19	54745659	54745659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcatcagaacaaaatggtGatatcccttctgtgagccac	7	11	3	3	rs200657736		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54745659G>C	ENST00000396365.2	-	4	490	c.451C>G	c.(451-453)Cac>Gac	p.H151D	LILRA6_ENST00000419410.2_Missense_Mutation_p.H151D|LILRA6_ENST00000270464.5_Missense_Mutation_p.H151D|LILRA6_ENST00000245621.5_Missense_Mutation_p.H151D|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.H151D|LILRA6_ENST00000391735.3_Missense_Mutation_p.H151D	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	151					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAAAATGGTGATATCCCTTC	0.592																																					p.H151D		Atlas-SNP	.											LILRA6,NS,carcinoma,0,2	LILRA6	75	2	0			c.C451G						scavenged	.						23	37	32					19																	54745659		2100	4266	6366	SO:0001583	missense	79168	exon4			AATGGTGATATCC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.451C>G	19.37:g.54745659G>C	ENSP00000379651:p.His151Asp	Somatic	500	1	0.002		WXS	Illumina HiSeq	Phase_I	875	120	0.137143	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.647560	0.00111	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;4.04;2.82;2.82	2.64	-5.28	0.02755	Immunoglobulin-like fold (1);	2.010510	0.02119	N	0.055507	T	0.01870	0.0059	N	0.00237	-1.79	0.09310	N	1	B;B;B;B;B;B	0.09022	0.002;0.0;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.003;0.0;0.003;0.001;0.002;0.001	T	0.25537	-1.0129	10	0.02654	T	1	.	3.0381	0.06129	0.2388:0.2899:0.373:0.0983	.	151;151;151;151;151;151	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	D	151	ENSP00000390120:H151D;ENSP00000270464:H151D;ENSP00000411227:H151D;ENSP00000375615:H151D;ENSP00000379651:H151D;ENSP00000245621:H151D	ENSP00000245621:H151D	H	-	1	0	LILRA6	59437471	.	.	0.000000	0.03702	0.020000	0.10135	.	.	-3.099000	0.00245	-1.962000	0.00476	CAC	G|0.999;C|0.001	0.001	weak		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		C	54745659	G	C	54745659	3	2	22	1	0	0	0	0	1	0	0	0	8789	1290	45	4	1014	4	LILRA6	19	54745659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	882	54745659	4383324	10225	15333										
LILRB5	10990	hgsc.bcm.edu	37	chr19	54754778	54754778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgtaggtcacatcctgggGggcttcagatgcagcagcct	15	11	2	1	rs150660840	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54754778G>A	ENST00000316219.5	-	13	1752	c.1645C>T	c.(1645-1647)Ccc>Tcc	p.P549S	LILRB5_ENST00000345866.6_Missense_Mutation_p.P450S|LILRB5_ENST00000449561.2_Missense_Mutation_p.P550S|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Silent_p.P619P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	549					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACATCCTGGGGGGCTTCAGAT	0.632																																					p.P550S		Atlas-SNP	.											LILRB5,NS,carcinoid-endocrine_tumour,+1,1	LILRB5	176	1	0			c.C1648T						scavenged	.	G	SER/PRO,SER/PRO,SER/PRO	50,4356	36.8+/-68.6	2,46,2155	38	43	42		1648,1348,1645	0.3	0	19	dbSNP_134	42	5,8587	3.7+/-12.6	0,5,4291	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	74,74,74	2,51,6446	AA,AG,GG		0.0582,1.1348,0.4231	benign,benign,benign	550/592,450/492,549/591	54754778	55,12943	2203	4296	6499	SO:0001583	missense	10990	exon13			CCTGGGGGGCTTC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1645C>T	19.37:g.54754778G>A	ENSP00000320390:p.Pro549Ser	Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	220	14	0.0636364	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559321	0.27827	0.011348	5.82E-4	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00543	6.77;6.74;6.68	2.75	0.32	0.15878	.	.	.	.	.	T	0.00496	0.0016	M	0.72894	2.215	0.09310	N	0.999999	B;B;P	0.43169	0.235;0.041;0.8	B;B;B	0.41036	0.202;0.054;0.346	T	0.46596	-0.9180	9	0.59425	D	0.04	.	3.188	0.06607	0.1533:0.0:0.5888:0.2579	.	450;550;549	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	S	549;550;450	ENSP00000320390:P549S;ENSP00000406478:P550S;ENSP00000263430:P450S	ENSP00000320390:P549S	P	-	1	0	LILRB5	59446590	0.000000	0.05858	0.034000	0.17996	0.619000	0.37552	-0.640000	0.05440	0.033000	0.15463	0.585000	0.79938	CCC	G|0.994;A|0.006	0.006	strong		0.632	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54754778	G	A	54754778	3	1	22	1	0	0	0	0	1	0	0	0	8794	1232	43	2	131	2	LILRB5	19	54754778	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9119	54754778	4374205	10226	15334										
LILRB5	10990	hgsc.bcm.edu	37	chr19	54755922	54755922	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcggggcctcacccgagCatccatctccaccccgtcct					rs34889610|rs12977062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54755922C>T	ENST00000316219.5	-	12	1728	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	LILRB5_ENST00000345866.6_Missense_Mutation_p.A442T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A542T|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.A533T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	541					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCACCCGAGCATCCATCTCC	0.627													.|||	896	0.178914	0.1112	0.1484	5008	,	,		14643	0.0992		0.2525	False		,,,				2504	0.2986				p.A542T		Atlas-SNP	.											.	LILRB5	176	.	0			c.G1624A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	478,3928		27,424,1752	111	110	110		1624,1324,1621	-2.3	0	19	dbSNP_121	110	1746,6854		240,1266,2794	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	58,58,58	267,1690,4546	TT,TC,CC		20.3023,10.8488,17.0998	benign,benign,benign	542/592,442/492,541/591	54755922	2224,10782	2203	4300	6503	SO:0001583	missense	10990	exon12			CCCGAGCATCCAT	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1621G>A	19.37:g.54755922C>T	ENSP00000320390:p.Ala541Thr	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	211	106	0.50237	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	275	0.1259157509157509	59	0.11991869918699187	60	0.16574585635359115	23	0.04020979020979021	133	0.17546174142480211	C	0.189	-1.054678	0.01965	0.108488	0.203023	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00466	7.33;7.23;7.33;7.33	1.7	-2.32	0.06745	.	.	.	.	.	T	0.00012	0.0000	N	0.00413	-1.525	0.80722	P	0.0	B;B;B;B	0.15473	0.001;0.013;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.002;0.001	T	0.23332	-1.0191	8	0.02654	T	1	.	3.7856	0.08698	0.0:0.3933:0.2823:0.3244	rs12977062;rs12977062	533;442;542;541	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	T	541;533;542;442	ENSP00000320390:A541T;ENSP00000414225:A533T;ENSP00000406478:A542T;ENSP00000263430:A442T	ENSP00000320390:A541T	A	-	1	0	LILRB5	59447734	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.640000	0.05440	-0.658000	0.05366	-0.606000	0.04082	GCT	TG|1.000;|0.000	.	alt		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54755922	C	T	54755922	3	4	22	1	0	0	0	0	1	0	0	0	8794	710	25	2	159	2	LILRB5	19	54755922	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1144	54755922	4373061	10227	15335	320	2								
LILRB5	10990	hgsc.bcm.edu	37	chr19	54755923	54755923	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcggggcctcacccgagcAtccatctccaccccgtcctt					rs34889610|rs12976868	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54755923A>G	ENST00000316219.5	-	12	1727	c.1620T>C	c.(1618-1620)gaT>gaC	p.D540D	LILRB5_ENST00000345866.6_Silent_p.D441D|LILRB5_ENST00000449561.2_Silent_p.D541D|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Silent_p.D532D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	540					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACCCGAGCATCCATCTCCA	0.632													.|||	1056	0.210863	0.2284	0.1556	5008	,	,		14747	0.0992		0.2525	False		,,,				2504	0.2986				p.D541D		Atlas-SNP	.											.	LILRB5	176	.	0			c.T1623C						PASS	.	G	,,	853,3553		78,697,1428	112	110	111		1623,1323,1620	0.5	0	19	dbSNP_121	111	1842,6758		243,1356,2701	no	coding-synonymous,coding-synonymous,coding-synonymous	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	,,	321,2053,4129	GG,GA,AA		21.4186,19.36,20.7212	,,	541/592,441/492,540/591	54755923	2695,10311	2203	4300	6503	SO:0001819	synonymous_variant	10990	exon12			CCGAGCATCCATC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1620T>C	19.37:g.54755923A>G		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	214	110	0.514019	NM_001081442	Q8N760	Silent	SNP	ENST00000316219.5	37	CCDS12885.1																																																																																			A|0.786;G|0.214	0.214	strong		0.632	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			G	54755923	A	G	54755923	2	3	22	1	0	0	0	0	0	0	0	1	8794	214	8	2		2	LILRB5	19	54755923	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1	54755923	4373060	10228	15336	320	2								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782165	54782165	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgagacagcaggtaggggtCggagttgagtgagccgtagc					rs4993133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782165C>T	ENST00000391749.4	-	7	1478	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	LILRB2_ENST00000391746.1_Missense_Mutation_p.D403N|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.D403N|LILRB2_ENST00000434421.1_Missense_Mutation_p.D287N|LILRB2_ENST00000391748.1_Missense_Mutation_p.D403N	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	403	Ig-like C2-type 4.		D -> N (in dbSNP:rs4993133).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGTAGGGGTCGGAGTTGAGT	0.592													.|||	31	0.0061901	0.0204	0.0014	5008	,	,		17568	0.0		0.002	False		,,,				2504	0.001				p.D403N		Atlas-SNP	.											.	LILRB2	94	.	0			c.G1207A						PASS	.	T	ASN/ASP,ASN/ASP	51,4355	821.0+/-416.4	1,49,2153	101	94	96		1207,1207	-2.2	0	19	dbSNP_113	96	5,8595	818.7+/-406.8	0,5,4295	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	23,23	1,54,6448	TT,TC,CC		0.0581,1.1575,0.4306	benign,benign	403/598,403/599	54782165	56,12950	2203	4300	6503	SO:0001583	missense	10288	exon7			AGGGGTCGGAGTT	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1207G>A	19.37:g.54782165C>T	ENSP00000375629:p.Asp403Asn	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	0	0.0	2	0.002638522427440633	T	1.465	-0.561273	0.03939	0.011575	5.81E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00717	5.79;5.79;5.79;5.79;5.79	1.88	-2.23	0.06930	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.810930	0.01046	N	0.004391	T	0.00300	0.0009	N	0.03294	-0.36	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.43653	-0.9378	10	0.06494	T	0.89	.	0.3448	0.00339	0.2691:0.185:0.1425:0.4034	rs4993133	403;420;403	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	N	403;403;403;403;287	ENSP00000375628:D403N;ENSP00000319960:D403N;ENSP00000375629:D403N;ENSP00000375626:D403N;ENSP00000410117:D287N	ENSP00000319960:D403N	D	-	1	0	LILRB2	59473977	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.319000	0.00514	-1.728000	0.01366	-2.542000	0.00179	GAC	C|0.995;T|0.005	0.005	strong		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54782165	C	T	54782165	3	4	22	1	0	0	0	0	1	0	0	0	8791	884	31	1	621	1	LILRB2	19	54782165	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26242	54782165	4346818	10229	15337	321	2								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782173	54782173	+	Missense_Mutation	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtaggggtcggagttgAgtgagccgtagcacctgtag					rs4993130		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782173A>C	ENST00000391749.4	-	7	1470	c.1199T>G	c.(1198-1200)cTc>cGc	p.L400R	LILRB2_ENST00000391748.1_Missense_Mutation_p.L400R|LILRB2_ENST00000391746.1_Missense_Mutation_p.L400R|LILRB2_ENST00000434421.1_Missense_Mutation_p.L284R|LILRB2_ENST00000314446.5_Missense_Mutation_p.L400R|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	400	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCGGAGTTGAGTGAGCCGTA	0.582																																					p.L400R		Atlas-SNP	.											.	LILRB2	94	.	0			c.T1199G						PASS	.	C	ARG/LEU,ARG/LEU	1,4405	825.9+/-416.6	0,1,2202	113	105	107		1199,1199	-3.8	0	19	dbSNP_113	107	1,8599		0,1,4299	no	missense,missense	LILRB2	NM_005874.3,NM_001080978.2	102,102	0,2,6501	CC,CA,AA		0.0116,0.0227,0.0154	benign,benign	400/599,400/598	54782173	2,13004	2203	4300	6503	SO:0001583	missense	10288	exon7			GAGTTGAGTGAGC	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1199T>G	19.37:g.54782173A>C	ENSP00000375629:p.Leu400Arg	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	172	77	0.447674	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.109135	0.00353	2.27E-4	1.16E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00745	5.75;5.75;5.75;5.75;5.75	1.88	-3.77	0.04346	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	6.345920	0.00496	N	0.000144	T	0.00580	0.0019	N	0.05592	-0.015	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.17979	0.013;0.013;0.02	T	0.47471	-0.9115	10	0.19590	T	0.45	.	5.0707	0.14606	0.1536:0.252:0.0:0.5944	.	400;417;400	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	R	400;400;400;400;284	ENSP00000375628:L400R;ENSP00000319960:L400R;ENSP00000375629:L400R;ENSP00000375626:L400R;ENSP00000410117:L284R	ENSP00000319960:L400R	L	-	2	0	LILRB2	59473985	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-4.942000	0.00167	-5.508000	0.00013	-3.110000	0.00062	CTC	A|1.000;C|0.000	0.000	weak		0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			C	54782173	A	C	54782173	3	2	22	1	0	0	0	0	1	0	0	0	8791	304	11	5	629	5	LILRB2	19	54782173	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	54782173	4346810	10230	15338	321	2								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782327	54782327	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaaagtgtggaactgccGccatgactgacacagcaggg	14	9	0	2	rs7247025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782327G>C	ENST00000391749.4	-	7	1316	c.1045C>G	c.(1045-1047)Cgg>Ggg	p.R349G	LILRB2_ENST00000391748.1_Missense_Mutation_p.R349G|LILRB2_ENST00000391746.1_Missense_Mutation_p.R349G|LILRB2_ENST00000434421.1_Missense_Mutation_p.R233G|LILRB2_ENST00000314446.5_Missense_Mutation_p.R349G|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	349	Ig-like C2-type 4.		R -> G (in dbSNP:rs7247025).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAACTGCCGCCATGACTGA	0.562													.|||	735	0.146765	0.4985	0.0432	5008	,	,		17798	0.0288		0.003	False		,,,				2504	0.0143				p.R349G		Atlas-SNP	.											.	LILRB2	94	.	0			c.C1045G						PASS	.	C	GLY/ARG,GLY/ARG	1651,2755	593.4+/-388.0	347,957,899	97	98	98		1045,1045	-4.8	0	19	dbSNP_116	98	68,8532	814.4+/-407.0	0,68,4232	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	125,125	347,1025,5131	CC,CG,GG		0.7907,37.4716,13.217	benign,benign	349/598,349/599	54782327	1719,11287	2203	4300	6503	SO:0001583	missense	10288	exon7			ACTGCCGCCATGA	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1045C>G	19.37:g.54782327G>C	ENSP00000375629:p.Arg349Gly	Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	332	329	0.990964	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	201	0.09203296703296704	171	0.3475609756097561	11	0.03038674033149171	18	0.03146853146853147	1	0.0013192612137203166	C	0.100	-1.153328	0.01700	0.374716	0.007907	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	2.38	-4.76	0.03229	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.622570	0.01630	N	0.023492	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.48479	-0.9032	9	0.22109	T	0.4	.	6.6779	0.23103	0.0:0.5003:0.311:0.1886	rs7247025;rs59173896;rs7247025	349;366;349	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	G	349;349;349;349;233	ENSP00000375628:R349G;ENSP00000319960:R349G;ENSP00000375629:R349G;ENSP00000375626:R349G;ENSP00000410117:R233G	ENSP00000319960:R349G	R	-	1	2	LILRB2	59474139	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.420000	0.00236	-1.984000	0.00985	-1.871000	0.00553	CGG	A|0.000;C|0.121;G|0.878	0.121	strong		0.562	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			C	54782327	G	C	54782327	3	2	22	1	0	0	0	0	1	0	0	0	8791	1086	38	4	783	4	LILRB2	19	54782327	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	154	54782327	4346656	10231	15339										
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782388	54782388	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgtggggcctggctgcacTgagatgaagggtgtgccacg					rs28405793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782388T>C	ENST00000391749.4	-	7	1255	c.984A>G	c.(982-984)tcA>tcG	p.S328S	LILRB2_ENST00000391746.1_Silent_p.S328S|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Silent_p.S328S|LILRB2_ENST00000434421.1_Silent_p.S212S|LILRB2_ENST00000391748.1_Silent_p.S328S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	328					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCTGCACTGAGATGAAGG	0.612													.|||	687	0.137181	0.4614	0.0447	5008	,	,		16587	0.0288		0.003	False		,,,				2504	0.0143				p.S328S		Atlas-SNP	.											LILRB2,NS,carcinoma,-1,1	LILRB2	94	1	0			c.A984G						scavenged	.						50	65	60					19																	54782388		2203	4300	6503	SO:0001819	synonymous_variant	10288	exon7			CTGCACTGAGATG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.984A>G	19.37:g.54782388T>C		Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	211	83	0.393365	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	CCDS12886.1																																																																																			T|0.954;C|0.046	0.046	strong		0.612	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			C	54782388	T	C	54782388	2	2	22	1	0	0	0	0	0	0	0	1	8791	1567	55	3		3	LILRB2	19	54782388	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	61	54782388	4346595	10232	15340	322	4								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782393	54782393	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcctggctgcactgagaTgaagggtgtgccacggatct					rs116027944	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782393T>G	ENST00000391749.4	-	7	1250	c.979A>C	c.(979-981)Atc>Ctc	p.I327L	LILRB2_ENST00000391748.1_Missense_Mutation_p.I327L|LILRB2_ENST00000391746.1_Missense_Mutation_p.I327L|LILRB2_ENST00000434421.1_Missense_Mutation_p.I211L|LILRB2_ENST00000314446.5_Missense_Mutation_p.I327L|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	327					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCACTGAGATGAAGGGTGTG	0.617													.|||	687	0.137181	0.4614	0.0447	5008	,	,		16248	0.0288		0.003	False		,,,				2504	0.0143				p.I327L		Atlas-SNP	.											.	LILRB2	94	.	0			c.A979C						PASS	.	G	LEU/ILE,LEU/ILE	180,4150		16,148,2001	45	62	56		979,979	1.4	0	19	dbSNP_132	56	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	5,5	16,148,6301	GG,GT,TT		0.0,4.157,1.3921	benign,benign	327/598,327/599	54782393	180,12750	2165	4300	6465	SO:0001583	missense	10288	exon7			CTGAGATGAAGGG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.979A>C	19.37:g.54782393T>G	ENSP00000375629:p.Ile327Leu	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	197	79	0.401015	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	127	0.05815018315018315	113	0.22967479674796748	7	0.019337016574585635	6	0.01048951048951049	1	0.0013192612137203166	N	0.020	-1.442400	0.01089	0.04157	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00616	6.2;6.2;6.2;6.2;6.2	2.54	1.41	0.22369	Immunoglobulin-like fold (1);	0.687149	0.11002	N	0.610383	T	0.00012	0.0000	N	0.00027	-2.645	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.31447	-0.9943	9	0.02654	T	1	.	7.4423	0.27190	0.0:0.0:0.5368:0.4632	.	327;344;327	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	L	327;327;327;327;211	ENSP00000375628:I327L;ENSP00000319960:I327L;ENSP00000375629:I327L;ENSP00000375626:I327L;ENSP00000410117:I211L	ENSP00000319960:I327L	I	-	1	0	LILRB2	59474205	0.000000	0.05858	0.041000	0.18516	0.004000	0.04260	0.145000	0.16157	-0.015000	0.14150	-0.401000	0.06369	ATC	T|0.962;G|0.038	0.038	strong		0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			G	54782393	T	G	54782393	3	3	22	1	0	0	0	0	1	0	0	0	8791	1464	51	5	849	5	LILRB2	19	54782393	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	54782393	4346590	10233	15341	322	4								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782395	54782395	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctggctgcactgagatgAagggtgtgccacggatctgt					rs7246737	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782395A>G	ENST00000391749.4	-	7	1248	c.977T>C	c.(976-978)tTc>tCc	p.F326S	LILRB2_ENST00000391748.1_Missense_Mutation_p.F326S|LILRB2_ENST00000391746.1_Missense_Mutation_p.F326S|LILRB2_ENST00000434421.1_Missense_Mutation_p.F210S|LILRB2_ENST00000314446.5_Missense_Mutation_p.F326S|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	326			F -> S (in dbSNP:rs7246737).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACTGAGATGAAGGGTGTGCC	0.612													.|||	687	0.137181	0.4614	0.0447	5008	,	,		16285	0.0288		0.003	False		,,,				2504	0.0143				p.F326S		Atlas-SNP	.											.	LILRB2	94	.	0			c.T977C						PASS	.	G	SER/PHE,SER/PHE	145,4021		12,121,1950	45	59	55		977,977	1.5	0	19	dbSNP_116	55	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	155,155	12,121,6250	GG,GA,AA		0.0,3.4806,1.1358	benign,benign	326/598,326/599	54782395	145,12621	2083	4300	6383	SO:0001583	missense	10288	exon7			GAGATGAAGGGTG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.977T>C	19.37:g.54782395A>G	ENSP00000375629:p.Phe326Ser	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	191	76	0.397906	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	124	0.056776556776556776	111	0.22560975609756098	7	0.019337016574585635	6	0.01048951048951049	0	0.0	G	0.008	-1.910647	0.00508	0.034806	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	2.54	1.45	0.22620	Immunoglobulin-like fold (1);	0.659026	0.12624	N	0.452790	T	0.00012	0.0000	N	0.00066	-2.3	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.003;0.003;0.006	T	0.42949	-0.9421	9	0.02654	T	1	.	8.398	0.32568	0.1497:0.0:0.8503:0.0	rs7246737;rs57030336;rs7246737	326;343;326	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	S	326;326;326;326;210	ENSP00000375628:F326S;ENSP00000319960:F326S;ENSP00000375629:F326S;ENSP00000375626:F326S;ENSP00000410117:F210S	ENSP00000319960:F326S	F	-	2	0	LILRB2	59474207	0.000000	0.05858	0.049000	0.19019	0.003000	0.03518	-0.147000	0.10234	-0.001000	0.14495	-1.847000	0.00572	TTC	A|0.971;G|0.029	0.029	strong		0.612	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			G	54782395	A	G	54782395	3	3	22	1	0	0	0	0	1	0	0	0	8791	246	9	2	851	2	LILRB2	19	54782395	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2	54782395	4346588	10234	15342	322	4								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782401	54782401	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcactgagatgaagggtGtgccacggatctgtcctgga					rs7247055	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782401G>C	ENST00000391749.4	-	7	1242	c.971C>G	c.(970-972)aCa>aGa	p.T324R	LILRB2_ENST00000391746.1_Missense_Mutation_p.T324R|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.T324R|LILRB2_ENST00000434421.1_Missense_Mutation_p.T208R|LILRB2_ENST00000391748.1_Missense_Mutation_p.T324R	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	324			T -> R (in dbSNP:rs7247055).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GATGAAGGGTGTGCCACGGAT	0.607													.|||	680	0.135783	0.4554	0.0432	5008	,	,		15732	0.0298		0.004	False		,,,				2504	0.0143				p.T324R		Atlas-SNP	.											.	LILRB2	94	.	0			c.C971G						PASS	.	C	ARG/THR,ARG/THR	316,4048	742.9+/-411.4	34,248,1900	43	58	53		971,971	-4.8	0	19	dbSNP_116	53	5,8595	818.2+/-406.9	0,5,4295	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	71,71	34,253,6195	CC,CG,GG		0.0581,7.2411,2.4761	benign,benign	324/598,324/599	54782401	321,12643	2182	4300	6482	SO:0001583	missense	10288	exon7			AAGGGTGTGCCAC	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.971C>G	19.37:g.54782401G>C	ENSP00000375629:p.Thr324Arg	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	173	67	0.387283	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	122	0.055860805860805864	110	0.22357723577235772	6	0.016574585635359115	6	0.01048951048951049	0	0.0	C	0.004	-2.302758	0.00240	0.072411	5.81E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00691	5.84;5.84;5.84;5.84;5.84	2.41	-4.83	0.03161	Immunoglobulin-like fold (1);	1.088530	0.07309	N	0.875526	T	0.00012	0.0000	N	0.04768	-0.165	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.006;0.006	T	0.36286	-0.9754	9	0.07644	T	0.81	.	5.7157	0.17958	0.0:0.3226:0.3802:0.2972	rs7247055;rs59296089	324;341;324	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	R	324;324;324;324;208	ENSP00000375628:T324R;ENSP00000319960:T324R;ENSP00000375629:T324R;ENSP00000375626:T324R;ENSP00000410117:T208R	ENSP00000319960:T324R	T	-	2	0	LILRB2	59474213	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.114000	0.01329	-1.085000	0.03088	-2.204000	0.00303	ACA	G|0.964;C|0.036	0.036	strong		0.607	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			C	54782401	G	C	54782401	3	2	22	1	0	0	0	0	1	0	0	0	8791	1377	48	4	857	4	LILRB2	19	54782401	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	54782401	4346582	10235	15343	322	4								
LILRB2	10288	hgsc.bcm.edu	37	chr19	54782731	54782731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggagaggttgtgtgcaccGtagcatctgtactggccccc	14	11	1	1	rs10404685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54782731G>A	ENST00000391749.4	-	6	1162	c.891C>T	c.(889-891)taC>taT	p.Y297Y	LILRB2_ENST00000391748.1_Silent_p.Y297Y|LILRB2_ENST00000391746.1_Silent_p.Y297Y|LILRB2_ENST00000434421.1_Silent_p.Y181Y|LILRB2_ENST00000314446.5_Silent_p.Y297Y|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	297	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGTGCACCGTAGCATCTGT	0.672													.|||	464	0.0926518	0.2905	0.0375	5008	,	,		13500	0.0298		0.0129	False		,,,				2504	0.0112				p.Y297Y		Atlas-SNP	.											.	LILRB2	94	.	0			c.C891T						PASS	.	G	,	1006,3400	364.1+/-316.8	119,768,1316	36	34	35		891,891	-5.7	0	19	dbSNP_119	35	168,8412	69.0+/-131.5	2,164,4124	no	coding-synonymous,coding-synonymous	LILRB2	NM_001080978.2,NM_005874.3	,	121,932,5440	AA,AG,GG		1.958,22.8325,9.0405	,	297/598,297/599	54782731	1174,11812	2203	4290	6493	SO:0001819	synonymous_variant	10288	exon6			TGCACCGTAGCAT	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.891C>T	19.37:g.54782731G>A		Somatic	215	1	0.00465116		WXS	Illumina HiSeq	Phase_I	239	153	0.640167	NM_005874	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	CCDS12886.1																																																																																			G|0.904;A|0.096	0.096	strong		0.672	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			A	54782731	G	A	54782731	2	1	22	1	0	0	0	0	0	0	0	1	8791	1140	40	1		1	LILRB2	19	54782731	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	330	54782731	4346252	10236	15344										
LILRA3	11026	hgsc.bcm.edu	37	chr19	54802105	54802105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagcggggaatcagctgcCccctccttggtcaaaaggaa	12	13	2	0	rs1975046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54802105C>T	ENST00000251390.3	-	6	1174	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	LILRA3_ENST00000391744.3_Silent_p.G297G|LILRA3_ENST00000391745.1_Silent_p.G378G	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	361	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCAGCTGCCCCCTCCTTGG	0.597													.|||	1149	0.229433	0.6483	0.0821	5008	,	,		11141	0.1131		0.007	False		,,,				2504	0.1166				p.G361G		Atlas-SNP	.											.	LILRA3	65	.	0			c.G1083A						PASS	.	C	,	2591,1797		861,869,464	104	92	96		891,1083	-1.1	0	19	dbSNP_92	96	74,8246		17,40,4103	no	coding-synonymous,coding-synonymous	LILRA3	NM_001172654.1,NM_006865.3	,	878,909,4567	TT,TC,CC		0.8894,40.9526,20.971	,	297/376,361/440	54802105	2665,10043	2194	4160	6354	SO:0001819	synonymous_variant	11026	exon6			AGCTGCCCCCTCC	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1083G>A	19.37:g.54802105C>T		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	174	89	0.511494	NM_006865	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	CCDS12887.1																																																																																			C|0.794;T|0.206	0.206	strong		0.597	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54802105	C	T	54802105	2	4	22	1	0	0	0	0	0	0	0	1	8786	610	22	2		2	LILRA3	19	54802105	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19374	54802105	4326878	10237	15345										
LILRA3	11026	hgsc.bcm.edu	37	chr19	54803141	54803141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccacggagaagatggccCgggatgacccacgggcatgg	17	12	0	3	rs147561158	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54803141C>T	ENST00000251390.3	-	4	627	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	LILRA3_ENST00000391745.1_Missense_Mutation_p.R196Q|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	179	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGATGGCCCGGGATGACCC	0.567													.|||	5	0.000998403	0.0038	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.0				p.R179Q		Atlas-SNP	.											LILRA3,right_upper_lobe,carcinoma,0,2	LILRA3	65	2	0			c.G536A						scavenged	.	C	,GLN/ARG	25,4365		1,23,2171	139	115	123		,536	-0.2	0	19	dbSNP_134	123	0,8332		0,0,4166	yes	intron,missense	LILRA3	NM_001172654.1,NM_006865.3	,43	1,23,6337	TT,TC,CC		0.0,0.5695,0.1965	,	,179/440	54803141	25,12697	2195	4166	6361	SO:0001583	missense	11026	exon4			ATGGCCCGGGATG	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.536G>A	19.37:g.54803141C>T	ENSP00000251390:p.Arg179Gln	Somatic	315	2	0.00634921		WXS	Illumina HiSeq	Phase_I	346	167	0.482659	NM_006865	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.015	-1.559568	0.00910	0.005695	0.0	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.02890	4.12;4.12	2.07	-0.183	0.13284	Immunoglobulin-like fold (1);	0.611757	0.12604	N	0.454468	T	0.00695	0.0023	N	0.02391	-0.57	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46693	-0.9173	10	0.02654	T	1	.	4.3936	0.11351	0.0:0.4019:0.0:0.5981	.	179	Q8N6C8	LIRA3_HUMAN	Q	179;196	ENSP00000251390:R179Q;ENSP00000375625:R196Q	ENSP00000251390:R179Q	R	-	2	0	LILRA3	59494953	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.534000	0.06150	-0.089000	0.12484	-0.350000	0.07774	CGG	C|0.998;T|0.002	0.002	strong		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54803141	C	T	54803141	3	4	22	1	0	0	0	0	1	0	0	0	8786	652	23	1	799	1	LILRA3	19	54803141	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1036	54803141	4325842	10238	15346										
LILRA3	11026	hgsc.bcm.edu	37	chr19	54803504	54803504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggtcactgctctctgagAggcctgcagtgtggctgcca	16	11	2	1	rs6509862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54803504A>C	ENST00000251390.3	-	3	411	c.320T>G	c.(319-321)cTc>cGc	p.L107R	LILRA3_ENST00000391745.1_Missense_Mutation_p.L124R|LILRA3_ENST00000391744.3_Missense_Mutation_p.L107R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	107	Ig-like C2-type 1.		L -> R (in dbSNP:rs6509862). {ECO:0000269|PubMed:12750859}.		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTCTCTGAGAGGCCTGCAGT	0.607													.|||	2181	0.435503	0.8306	0.4337	5008	,	,		12643	0.4345		0.1064	False		,,,				2504	0.2423				p.L107R		Atlas-SNP	.											.	LILRA3	65	.	0			c.T320G						PASS	.	C	ARG/LEU,ARG/LEU	3352,1036		1356,640,198	64	62	62		320,320	-1.5	0	19	dbSNP_116	62	1014,7284		203,608,3338	yes	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	102,102	1559,1248,3536	CC,CA,AA		12.2198,23.6098,34.4159	,	107/376,107/440	54803504	4366,8320	2194	4149	6343	SO:0001583	missense	11026	exon3			TCTGAGAGGCCTG	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.320T>G	19.37:g.54803504A>C	ENSP00000251390:p.Leu107Arg	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	172	90	0.523256	NM_001172654	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	979	0.4482600732600733	405	0.823170731707317	125	0.3453038674033149	358	0.6258741258741258	91	0.12005277044854881	a	4.167	0.029547	0.08054	0.763902	0.122198	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00784	5.7;5.7;5.7	2.5	-1.55	0.08558	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.04191	-1.0970	8	0.42905	T	0.14	.	4.4897	0.11808	0.5563:0.3197:0.0:0.1239	rs6509862;rs59970448	107;107	E7EU74;Q8N6C8	.;LIRA3_HUMAN	R	107;107;124	ENSP00000251390:L107R;ENSP00000375624:L107R;ENSP00000375625:L124R	ENSP00000251390:L107R	L	-	2	0	LILRA3	59495316	0.033000	0.19621	0.000000	0.03702	0.001000	0.01503	-0.019000	0.12546	-0.770000	0.04614	-1.782000	0.00648	CTC	A|0.646;C|0.354	0.354	strong		0.607	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			C	54803504	A	C	54803504	3	2	22	1	0	0	0	0	1	0	0	0	8786	304	11	5	1019	5	LILRA3	19	54803504	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	363	54803504	4325479	10239	15347										
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848121	54848121	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgccctcacctgagaccaCgagctccaggggctcactgg					rs141881690	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54848121C>T	ENST00000291759.4	-	6	1302	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	416					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGAGACCACGAGCTCCAGG	0.597													C|||	158	0.0315495	0.0613	0.0101	5008	,	,		18423	0.0		0.0109	False		,,,				2504	0.0603				p.V416M		Atlas-SNP	.											.	LILRA4	91	.	0			c.G1246A						PASS	.						80	67	71					19																	54848121		2203	4300	6503	SO:0001583	missense	23547	exon6			AGACCACGAGCTC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1246G>A	19.37:g.54848121C>T	ENSP00000291759:p.Val416Met	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	257	37	0.143969	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504546	0.12822	.	.	ENSG00000239961	ENST00000291759	T	0.00848	5.62	2.4	-4.8	0.03190	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.277830	0.01713	N	0.027839	T	0.01489	0.0048	M	0.61703	1.905	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.42816	-0.9429	10	0.33141	T	0.24	.	7.5849	0.27987	0.0:0.1789:0.6361:0.185	.	416	P59901	LIRA4_HUMAN	M	416	ENSP00000291759:V416M	ENSP00000291759:V416M	V	-	1	0	LILRA4	59539933	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-4.042000	0.00307	-1.656000	0.01495	0.455000	0.32223	GTG	C|0.999;T|0.001	0.001	weak		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848121	C	T	54848121	3	4	22	1	0	0	0	0	1	0	0	0	8787	536	19	1	265	1	LILRA4	19	54848121	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	44617	54848121	4280862	10240	15348	323	2								
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848125	54848125	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctcacctgagaccacgagCtccaggggctcactggggtg					rs138326444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54848125C>T	ENST00000291759.4	-	6	1298	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	414					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGACCACGAGCTCCAGGGGCT	0.597													C|||	110	0.0219649	0.0598	0.0101	5008	,	,		17485	0.0		0.0099	False		,,,				2504	0.0143				p.E414E		Atlas-SNP	.											.	LILRA4	91	.	0			c.G1242A						PASS	.						86	72	77					19																	54848125		2203	4300	6503	SO:0001819	synonymous_variant	23547	exon6			CACGAGCTCCAGG	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1242G>A	19.37:g.54848125C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	271	42	0.154982	NM_012276	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																			C|0.999;T|0.001	0.001	weak		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848125	C	T	54848125	2	4	22	1	0	0	0	0	0	0	0	1	8787	796	28	2		2	LILRA4	19	54848125	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	54848125	4280858	10241	15349	323	2								
LAIR1	3903	hgsc.bcm.edu	37	chr19	54871664	54871664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgtgtccggggagtccGggcctccagaggtttctgta	15	11	2	1	rs74463408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:54871664G>C	ENST00000391742.2	-	4	532	c.380C>G	c.(379-381)cCg>cGg	p.P127R	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Missense_Mutation_p.P120R|LAIR1_ENST00000391743.3_Missense_Mutation_p.P109R|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000434277.2_Missense_Mutation_p.P126R			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	127					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CGGGGAGTCCGGGCCTCCAGA	0.627													G|||	778	0.155351	0.0802	0.1153	5008	,	,		16464	0.2877		0.1402	False		,,,				2504	0.1646				p.P127R		Atlas-SNP	.											LAIR1,colon,carcinoma,+1,2	LAIR1	44	2	0			c.C380G						PASS	.	G	ARG/PRO,	321,4057		25,271,1893	53	57	56		380,	-2.3	0	19	dbSNP_131	56	986,7610		79,828,3391	no	missense,intron	LAIR1	NM_002287.3,NM_021706.2	103,	104,1099,5284	CC,CG,GG		11.4705,7.3321,10.074	benign,	127/288,	54871664	1307,11667	2189	4298	6487	SO:0001583	missense	3903	exon4			GAGTCCGGGCCTC	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.380C>G	19.37:g.54871664G>C	ENSP00000375622:p.Pro127Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	256	78	0.304688	NM_002287		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	333	0.15247252747252749	42	0.08536585365853659	49	0.13535911602209943	146	0.25524475524475526	96	0.1266490765171504	.	5.214	0.224908	0.09916	0.073321	0.114705	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000313038;ENST00000444687	T;T;T;T;T	0.64085	6.72;6.74;6.76;6.73;-0.08	1.88	-2.29	0.06805	.	.	.	.	.	T	0.00012	0.0000	N	0.25485	0.75	0.80722	P	0.0	P;B;B;P	0.45715	0.516;0.034;0.054;0.865	B;B;B;P	0.47206	0.25;0.015;0.02;0.541	T	0.02546	-1.1143	8	0.37606	T	0.19	.	2.177	0.03865	0.4243:0.0:0.3314:0.2443	rs35781676	127;109;126;127	Q6GTX8-4;A8MZ84;D3YTC8;Q6GTX8	.;.;.;LAIR1_HUMAN	R	109;127;126;120;17	ENSP00000375623:P109R;ENSP00000375622:P127R;ENSP00000391003:P126R;ENSP00000319204:P120R;ENSP00000392722:P17R	ENSP00000319204:P120R	P	-	2	0	LAIR1	59563476	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.372000	0.20467	-0.603000	0.05767	-1.129000	0.01985	CCG	G|0.886;C|0.114	0.114	strong		0.627	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			C	54871664	G	C	54871664	3	2	22	1	0	0	0	0	1	0	0	0	8602	1116	39	4	511	4	LAIR1	19	54871664	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23539	54871664	4257319	10242	15350										
LAIR2	3904	hgsc.bcm.edu	37	chr19	55019371	55019371	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccctggatggtctgagcaCagtgacttcctggagctgct					rs61737870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55019371C>G	ENST00000301202.2	+	3	458	c.336C>G	c.(334-336)caC>caG	p.H112Q	LAIR2_ENST00000351841.2_Missense_Mutation_p.H112Q	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	112	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GGTCTGAGCACAGTGACTTCC	0.562													C|||	486	0.0970447	0.2405	0.0749	5008	,	,		17558	0.0079		0.0547	False		,,,				2504	0.0542				p.H112Q		Atlas-SNP	.											.	LAIR2	30	.	0			c.C336G						PASS	.	C	GLN/HIS,GLN/HIS	966,3440	365.4+/-317.4	113,740,1350	96	97	97		336,336	-1.5	0	19	dbSNP_129	97	405,8195	128.0+/-186.3	15,375,3910	yes	missense,missense	LAIR2	NM_002288.4,NM_021270.3	24,24	128,1115,5260	GG,GC,CC		4.7093,21.9246,10.5413	benign,benign	112/153,112/136	55019371	1371,11635	2203	4300	6503	SO:0001583	missense	3904	exon3			TGAGCACAGTGAC	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.336C>G	19.37:g.55019371C>G	ENSP00000301202:p.His112Gln	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_002288	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	188	0.08608058608058608	110	0.22357723577235772	37	0.10220994475138122	3	0.005244755244755245	38	0.05013192612137203	C	6.372	0.436742	0.12104	0.219246	0.047093	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.10477	2.87;2.87	3.77	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.651870	0.03450	N	0.210525	T	0.00012	0.0000	L	0.31752	0.955	0.58432	P	1.0000000000287557E-6	B;B	0.12013	0.002;0.005	B;B	0.12156	0.007;0.007	T	0.43734	-0.9373	8	.	.	.	.	2.9927	0.05988	0.349:0.4225:0.0:0.2286	rs61737870	112;112	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	Q	112	ENSP00000301202:H112Q;ENSP00000301203:H112Q	.	H	+	3	2	LAIR2	59711183	0.045000	0.20229	0.005000	0.12908	0.029000	0.11900	0.010000	0.13242	-0.256000	0.09473	0.313000	0.20887	CAC	C|0.897;G|0.103	0.103	strong		0.562	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			G	55019371	C	G	55019371	3	3	22	1	0	0	0	0	1	0	0	0	8603	477	17	4	346	4	LAIR2	19	55019371	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	147707	55019371	4109612	10243	15351	324	2								
LAIR2	3904	hgsc.bcm.edu	37	chr19	55019379	55019379	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtctgagcacagtgactTcctggagctgctggtgaaag					rs34429135	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55019379T>A	ENST00000301202.2	+	3	466	c.344T>A	c.(343-345)tTc>tAc	p.F115Y	LAIR2_ENST00000351841.2_Missense_Mutation_p.F115Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	115	Ig-like C2-type.		F -> Y (in dbSNP:rs34429135).			extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CACAGTGACTTCCTGGAGCTG	0.577													T|||	284	0.0567093	0.2005	0.0245	5008	,	,		17434	0.0		0.002	False		,,,				2504	0.0				p.F115Y		Atlas-SNP	.											.	LAIR2	30	.	0			c.T344A						PASS	.	T	TYR/PHE,TYR/PHE	773,3633	307.7+/-290.2	60,653,1490	89	92	91		344,344	-7.6	0	19	dbSNP_126	91	14,8586	8.4+/-32.0	0,14,4286	yes	missense,missense	LAIR2	NM_002288.4,NM_021270.3	22,22	60,667,5776	AA,AT,TT		0.1628,17.5443,6.0511	benign,benign	115/153,115/136	55019379	787,12219	2203	4300	6503	SO:0001583	missense	3904	exon3			GTGACTTCCTGGA	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.344T>A	19.37:g.55019379T>A	ENSP00000301202:p.Phe115Tyr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	127	55	0.433071	NM_002288	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	99	0.04532967032967033	87	0.17682926829268292	10	0.027624309392265192	0	0.0	2	0.002638522427440633	T	0.013	-1.619502	0.00828	0.175443	0.001628	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.11277	2.79;2.79	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.928910	0.00166	N	0.000000	T	0.00012	0.0000	N	0.02315	-0.6	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.35822	-0.9773	8	.	.	.	.	0.0766	0.00027	0.2872:0.2456:0.1969:0.2703	rs34429135	115;115	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	Y	115	ENSP00000301202:F115Y;ENSP00000301203:F115Y	.	F	+	2	0	LAIR2	59711191	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.540000	0.00218	-3.651000	0.00126	-0.907000	0.02831	TTC	T|0.943;A|0.057	0.057	strong		0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			A	55019379	T	A	55019379	3	1	22	1	0	0	0	0	1	0	0	0	8603	1783	62	5	354	5	LAIR2	19	55019379	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8	55019379	4109604	10244	15352	324	2								
LILRA2	11027	hgsc.bcm.edu	37	chr19	55087313	55087313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctctctcggtgcagccggTccccacagtagccccaggaa	10	17	2	0	rs7249811	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55087313T>G	ENST00000251377.3	+	7	1125	c.992T>G	c.(991-993)gTc>gGc	p.V331G	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.V331G|LILRA2_ENST00000391737.1_Missense_Mutation_p.V319G|LILRA2_ENST00000251376.3_Missense_Mutation_p.V331G|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	331	Ig-like C2-type 4.		V -> G (in dbSNP:rs7249811).		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGCAGCCGGTCCCCACAGTA	0.602													N|||	632	0.126198	0.2421	0.0879	5008	,	,		15959	0.0079		0.0934	False		,,,				2504	0.1524				p.V331G		Atlas-SNP	.											.	LILRA2	99	.	0			c.T992G						PASS	.	G	GLY/VAL,GLY/VAL	945,3461	734.6+/-410.6	100,745,1358	60	54	56		992,992	1.1	0	19	dbSNP_116	56	883,7717	778.8+/-407.7	46,791,3463	yes	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	109,109	146,1536,4821	GG,GT,TT		10.2674,21.448,14.0551	,	331/484,331/467	55087313	1828,11178	2203	4300	6503	SO:0001583	missense	11027	exon6			AGCCGGTCCCCAC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.992T>G	19.37:g.55087313T>G	ENSP00000251377:p.Val331Gly	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	184	102	0.554348	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	224	0.10256410256410256	122	0.24796747967479674	35	0.09668508287292818	1	0.0017482517482517483	66	0.0870712401055409	G	0.007	-2.005715	0.00426	0.21448	0.102674	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00651	5.97;5.97;5.97;5.97	2.19	1.08	0.20341	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.944611	0.08659	N	0.912726	T	0.00012	0.0000	N	0.00016	-2.865	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34675	-0.9819	8	.	.	.	.	4.5973	0.12336	0.0:0.2474:0.4991:0.2535	rs7249811;rs16985580;rs52813341;rs7249811	319;331;331	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	G	331;331;331;319	ENSP00000251377:V331G;ENSP00000375618:V331G;ENSP00000251376:V331G;ENSP00000375617:V319G	.	V	+	2	0	LILRA2	59779125	0.012000	0.17670	0.001000	0.08648	0.015000	0.08874	0.672000	0.25187	0.032000	0.15435	-0.292000	0.09595	GTC	T|0.876;G|0.124	0.124	strong		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			G	55087313	T	G	55087313	3	3	22	1	0	0	0	0	1	0	0	0	8785	1667	58	5	1014	5	LILRA2	19	55087313	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	67934	55087313	4041670	10245	15353										
LILRA2	11027	hgsc.bcm.edu	37	chr19	55098736	55098736	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatgggtgtggctggcttgGtcctggtggtcctcgggatt					rs73939007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55098736G>C	ENST00000251377.3	+	9	1508	c.1375G>C	c.(1375-1377)Gtc>Ctc	p.V459L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.V459L|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391737.1_Missense_Mutation_p.V430L|LILRA2_ENST00000251376.3_Missense_Mutation_p.V442L|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	459					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGCTGGCTTGGTCCTGGTGGT	0.567													g|||	51	0.0101837	0.0378	0.0014	5008	,	,		17382	0.0		0.0	False		,,,				2504	0.0				p.V459L		Atlas-SNP	.											.	LILRA2	99	.	0			c.G1375C						PASS	.	G	LEU/VAL,LEU/VAL	100,4306	79.3+/-117.8	0,100,2103	111	96	101		1375,1324	-5.5	0	19	dbSNP_130	101	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	32,32	0,102,6401	CC,CG,GG		0.0233,2.2696,0.7843	,	459/484,442/467	55098736	102,12904	2203	4300	6503	SO:0001583	missense	11027	exon8			GGCTTGGTCCTGG	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1375G>C	19.37:g.55098736G>C	ENSP00000251377:p.Val459Leu	Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	257	115	0.447471	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	9.895	1.205412	0.22205	0.022696	2.33E-4	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00617	6.41;6.41;6.35;6.19	2.74	-5.49	0.02584	.	30.411000	0.00832	N	0.001664	T	0.00241	0.0007	L	0.43923	1.385	0.09310	N	0.999998	B;B;B	0.24258	0.098;0.1;0.024	B;B;B	0.25614	0.051;0.062;0.028	T	0.42965	-0.9420	10	0.49607	T	0.09	.	7.5721	0.27913	0.1909:0.1704:0.6387:0.0	.	430;459;442	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	L	459;459;442;430	ENSP00000251377:V459L;ENSP00000375618:V459L;ENSP00000251376:V442L;ENSP00000375617:V430L	ENSP00000251376:V442L	V	+	1	0	LILRA2	59790548	0.005000	0.15991	0.002000	0.10522	0.162000	0.22319	-0.202000	0.09451	-1.128000	0.02922	-0.320000	0.08662	GTC	G|0.991;C|0.009	0.009	strong		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			C	55098736	G	C	55098736	3	2	22	1	0	0	0	0	1	0	0	0	8785	1261	44	4	1405	4	LILRA2	19	55098736	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11423	55098736	4030247	10246	15354	325	2								
LILRA2	11027	hgsc.bcm.edu	37	chr19	55098742	55098742	+	Missense_Mutation	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtggctggcttggtcctgGtggtcctcgggattctgcta					rs73939008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55098742G>T	ENST00000251377.3	+	9	1514	c.1381G>T	c.(1381-1383)Gtg>Ttg	p.V461L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.V461L|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391737.1_Missense_Mutation_p.V432L|LILRA2_ENST00000251376.3_Missense_Mutation_p.V444L|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	461					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTTGGTCCTGGTGGTCCTCGG	0.562													g|||	51	0.0101837	0.0378	0.0014	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.0				p.V461L		Atlas-SNP	.											LILRA2,right_upper_lobe,carcinoma,0,1	LILRA2	99	1	0			c.G1381T						PASS	.	G	LEU/VAL,LEU/VAL	100,4306	78.3+/-116.7	0,100,2103	111	96	101		1381,1330	-4.3	0	19	dbSNP_130	101	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	32,32	0,102,6401	TT,TG,GG		0.0233,2.2696,0.7843	,	461/484,444/467	55098742	102,12904	2203	4300	6503	SO:0001583	missense	11027	exon8			GTCCTGGTGGTCC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1381G>T	19.37:g.55098742G>T	ENSP00000251377:p.Val461Leu	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	253	109	0.43083	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	10.21	1.287724	0.23478	0.022696	2.33E-4	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00529	6.98;6.98;6.86;6.78	2.74	-4.29	0.03721	.	22.652400	0.00166	N	0.000016	T	0.00109	0.0003	N	0.25094	0.71	0.09310	N	0.999998	B;B;P	0.45126	0.341;0.09;0.851	B;B;P	0.47402	0.066;0.026;0.546	T	0.55755	-0.8091	10	0.02654	T	1	.	5.1841	0.15174	0.0:0.3589:0.2798:0.3612	.	432;461;444	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	L	461;461;444;432	ENSP00000251377:V461L;ENSP00000375618:V461L;ENSP00000251376:V444L;ENSP00000375617:V432L	ENSP00000251376:V444L	V	+	1	0	LILRA2	59790554	0.003000	0.15002	0.035000	0.18076	0.160000	0.22226	-1.113000	0.03296	-0.357000	0.08175	0.609000	0.83330	GTG	G|0.991;T|0.009	0.009	strong		0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55098742	G	T	55098742	3	4	22	1	0	0	0	0	1	0	0	0	8785	1261	44	4	1411	4	LILRA2	19	55098742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	55098742	4030241	10247	15355	325	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55105722	55105722	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacgctatgacccccatcGtcacagtcctgatctgtctc					rs28524012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55105722G>C	ENST00000251372.3	+	2	195	c.13G>C	c.(13-15)Gtc>Ctc	p.V5L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.V5L|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	5				V -> L (in Ref. 1; AAB87663). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GACCCCCATCGTCACAGTCCT	0.582													N|||	1427	0.284944	0.4894	0.268	5008	,	,		16924	0.2778		0.1034	False		,,,				2504	0.2147				p.V5L		Atlas-SNP	.											.	LILRA1	105	.	0			c.G13C						PASS	.	C	LEU/VAL	1320,3086		399,522,1282	88	107	100		13	-0.2	0	19	dbSNP_125	100	332,8268		50,232,4018	no	missense	LILRA1	NM_006863.1	32	449,754,5300	CC,CG,GG		3.8605,29.9591,12.7018	benign	5/490	55105722	1652,11354	2203	4300	6503	SO:0001583	missense	11024	exon2			CCCATCGTCACAG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.13G>C	19.37:g.55105722G>C	ENSP00000251372:p.Val5Leu	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	107	107	1	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	440	0.20146520146520147	169	0.3434959349593496	78	0.2154696132596685	140	0.24475524475524477	53	0.06992084432717678	C	0.011	-1.736306	0.00681	0.299591	0.038605	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00470	7.2;7.21	2.42	-0.145	0.13436	.	0.555858	0.15336	N	0.267735	T	0.00012	0.0000	N	0.00089	-2.185	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.31998	-0.9923	9	0.02654	T	1	.	1.1695	0.01823	0.2208:0.407:0.2172:0.155	rs28524012;rs57852452	5;5	O75019-2;O75019	.;LIRA1_HUMAN	L	5	ENSP00000251372:V5L;ENSP00000413715:V5L	ENSP00000251372:V5L	V	+	1	0	LILRA1	59797534	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.526000	0.02229	-0.494000	0.06669	-1.041000	0.02371	GTC	G|0.797;C|0.203	0.203	strong		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55105722	G	C	55105722	3	2	22	1	0	0	0	0	1	0	0	0	8784	1145	40	4	15	4	LILRA1	19	55105722	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6980	55105722	4023261	10248	15356	326	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55105727	55105727	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctatgacccccatcgtcacAgtcctgatctgtctcagtga					rs28469702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55105727A>G	ENST00000251372.3	+	2	200	c.18A>G	c.(16-18)acA>acG	p.T6T	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.T6T|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	6					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCGTCACAGTCCTGATCT	0.582													N|||	1469	0.293331	0.5189	0.2723	5008	,	,		16772	0.2778		0.1034	False		,,,				2504	0.2147				p.T6T		Atlas-SNP	.											.	LILRA1	105	.	0			c.A18G						PASS	.	C		1332,3074		439,454,1310	86	108	101		18	-4.8	0	19	dbSNP_125	101	274,8326		47,180,4073	no	coding-synonymous	LILRA1	NM_006863.1		486,634,5383	GG,GA,AA		3.186,30.2315,12.3481		6/490	55105727	1606,11400	2203	4300	6503	SO:0001819	synonymous_variant	11024	exon2			CGTCACAGTCCTG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.18A>G	19.37:g.55105727A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			A|0.789;G|0.211	0.211	strong		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		G	55105727	A	G	55105727	2	3	22	1	0	0	0	0	0	0	0	1	8784	175	7	3		3	LILRA1	19	55105727	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5	55105727	4023256	10249	15357	326	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55105743	55105743	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacagtcctgatctgtctcAgtgagatttgaagagggagg	13	7	3	4	rs1974982	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55105743A>G	ENST00000251372.3	+	2	216	c.34A>G	c.(34-36)Agg>Ggg	p.R12G	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Splice_Site_p.R12G	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	12			R -> G (in dbSNP:rs1974982). {ECO:0000269|PubMed:9548455}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GATCTGTCTCAGTGAGATTTG	0.592													N|||	1467	0.292931	0.5174	0.2723	5008	,	,		16145	0.2778		0.1034	False		,,,				2504	0.2147				p.R12G		Atlas-SNP	.											.	LILRA1	105	.	0			c.A34G						PASS	.	G	GLY/ARG	1261,3145		429,403,1371	81	105	97		34	2.4	0.1	19	dbSNP_92	97	268,8332		49,170,4081	no	missense-near-splice	LILRA1	NM_006863.1	125	478,573,5452	GG,GA,AA		3.1163,28.6201,11.7561	benign	12/490	55105743	1529,11477	2203	4300	6503	SO:0001630	splice_region_variant	11024	exon2			TGTCTCAGTGAGA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.34+1A>G	19.37:g.55105743A>G		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	455	0.20833333333333334	180	0.36585365853658536	81	0.22375690607734808	140	0.24475524475524477	54	0.0712401055408971	G	0.048	-1.260465	0.01445	0.286201	0.031163	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00468	7.24;7.22	2.42	2.42	0.29668	.	0.324020	0.22200	N	0.063246	T	0.00012	0.0000	N	0.00001	-3.745	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32534	-0.9903	9	0.02654	T	1	.	5.9171	0.19061	0.1712:0.0:0.8288:0.0	rs1974982	12;12	O75019-2;O75019	.;LIRA1_HUMAN	G	12	ENSP00000251372:R12G;ENSP00000413715:R12G	ENSP00000251372:R12G	R	+	1	2	LILRA1	59797555	0.981000	0.34729	0.053000	0.19242	0.025000	0.11179	2.181000	0.42547	0.331000	0.23511	-1.032000	0.02404	AGG	A|0.864;G|0.136	0.136	strong		0.592	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	G	55105743	A	G	55105743	5	3	22	1	0	0	0	0	0	0	1	0	8784	202	7	3	36	3	LILRA1	19	55105743	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	55105743	4023240	10250	15358										
LILRA1	11024	hgsc.bcm.edu	37	chr19	55106317	55106317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggccagttccccatcccAtccatcacctgggaacacac	7	17	1	0	rs10416917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55106317A>G	ENST00000251372.3	+	4	440	c.258A>G	c.(256-258)ccA>ccG	p.P86P	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.P86P|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	86	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCCCATCCCATCCATCACCT	0.562													N|||	1461	0.291733	0.5189	0.2709	5008	,	,		20479	0.2718		0.1034	False		,,,				2504	0.2137				p.P86P		Atlas-SNP	.											.	LILRA1	105	.	0			c.A258G						PASS	.	G		2091,2315	573.3+/-383.5	477,1137,589	159	149	152		258	-0.7	0	19	dbSNP_119	152	967,7633	210.5+/-251.4	57,853,3390	no	coding-synonymous	LILRA1	NM_006863.1		534,1990,3979	GG,GA,AA		11.2442,47.458,23.5122		86/490	55106317	3058,9948	2203	4300	6503	SO:0001819	synonymous_variant	11024	exon4			CATCCCATCCATC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.258A>G	19.37:g.55106317A>G		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	303	302	0.9967	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			A|0.762;G|0.238	0.238	strong		0.562	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		G	55106317	A	G	55106317	2	3	22	1	0	0	0	0	0	0	0	1	8784	204	8	2		2	LILRA1	19	55106317	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	574	55106317	4022666	10251	15359										
LILRA1	11024	hgsc.bcm.edu	37	chr19	55106778	55106778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccccgtgagcccgagtcGcaggtggtcgtacaggtgct	17	12	0	1	rs10418391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55106778G>A	ENST00000251372.3	+	5	754	c.572G>A	c.(571-573)cGc>cAc	p.R191H	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R191H|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCCCGAGTCGCAGGTGGTCG	0.572													g|||	714	0.142572	0.4032	0.0821	5008	,	,		19472	0.004		0.0547	False		,,,				2504	0.0665				p.R191H		Atlas-SNP	.											LILRA1,NS,malignant_melanoma,+1,2	LILRA1	105	2	0			c.G572A						PASS	.	G	HIS/ARG	1642,2764	503.2+/-365.5	295,1052,856	152	157	156		572	-0.3	0	19	dbSNP_119	156	410,8190	129.0+/-187.1	10,390,3900	no	missense	LILRA1	NM_006863.1	29	305,1442,4756	AA,AG,GG		4.7674,37.2674,15.7773	benign	191/490	55106778	2052,10954	2203	4300	6503	SO:0001583	missense	11024	exon5			CGAGTCGCAGGTG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.572G>A	19.37:g.55106778G>A	ENSP00000251372:p.Arg191His	Somatic	402	0	0		WXS	Illumina HiSeq	Phase_I	408	194	0.47549	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	251	0.11492673992673992	177	0.3597560975609756	36	0.09944751381215469	2	0.0034965034965034965	36	0.047493403693931395	G	0.013	-1.623243	0.00820	0.372674	0.047674	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.02369	4.32;4.32	2.24	-0.33	0.12683	Immunoglobulin-like fold (1);	1.389240	0.04584	N	0.395426	T	0.00012	0.0000	N	0.03268	-0.37	0.80722	P	0.0	B;B	0.20164	0.042;0.001	B;B	0.11329	0.006;0.0	T	0.42599	-0.9442	9	0.02654	T	1	.	2.0528	0.03574	0.5644:0.0:0.1783:0.2573	rs10418391	191;191	O75019-2;O75019	.;LIRA1_HUMAN	H	191	ENSP00000251372:R191H;ENSP00000413715:R191H	ENSP00000251372:R191H	R	+	2	0	LILRA1	59798590	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.058000	0.11750	-0.319000	0.08652	0.194000	0.17425	CGC	G|0.857;A|0.143	0.143	strong		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55106778	G	A	55106778	3	1	22	1	0	0	0	0	1	0	0	0	8784	1087	38	1	586	1	LILRA1	19	55106778	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	461	55106778	4022205	10252	15360										
LILRA1	11024	hgsc.bcm.edu	37	chr19	55106865	55106865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcctggagctcctggtccTaggtgagaaattcacagcat	10	11	2	1	rs373854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55106865T>C	ENST00000251372.3	+	5	841	c.659T>C	c.(658-660)cTa>cCa	p.L220P	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.L220P|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	220	Ig-like C2-type 2.		L -> P (in dbSNP:rs373854). {ECO:0000269|PubMed:9548455}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTCCTGGTCCTAGGTGAGAAA	0.587													N|||	1496	0.298722	0.5212	0.268	5008	,	,		18238	0.2798		0.0994	False		,,,				2504	0.2444				p.L220P		Atlas-SNP	.											.	LILRA1	105	.	0			c.T659C						PASS	.	C	PRO/LEU	2057,2349		480,1097,626	103	114	110		659	1.2	0.2	19	dbSNP_80	110	728,7872		52,624,3624	no	missense	LILRA1	NM_006863.1	98	532,1721,4250	CC,CT,TT		8.4651,46.6863,21.4132	benign	220/490	55106865	2785,10221	2203	4300	6503	SO:0001583	missense	11024	exon5			TGGTCCTAGGTGA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.659T>C	19.37:g.55106865T>C	ENSP00000251372:p.Leu220Pro	Somatic	323	1	0.00309598		WXS	Illumina HiSeq	Phase_I	336	335	0.997024	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	494	0.2261904761904762	209	0.4247967479674797	86	0.23756906077348067	147	0.256993006993007	52	0.06860158311345646	C	4.534	0.099125	0.08681	0.466863	0.084651	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00737	5.76;5.76	2.24	1.17	0.20885	Immunoglobulin-like fold (1);	1.323100	0.05398	N	0.540098	T	0.00012	0.0000	N	0.00453	-1.485	0.36214	P	0.14844599999999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15607	-1.0431	9	0.19147	T	0.46	.	4.0558	0.09816	0.0:0.6082:0.0:0.3918	rs373854	220;220	O75019-2;O75019	.;LIRA1_HUMAN	P	220	ENSP00000251372:L220P;ENSP00000413715:L220P	ENSP00000251372:L220P	L	+	2	0	LILRA1	59798677	0.701000	0.27806	0.157000	0.22605	0.249000	0.25844	0.348000	0.20031	0.247000	0.21414	-1.033000	0.02402	CTA	T|0.782;C|0.218	0.218	strong		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55106865	T	C	55106865	3	2	22	1	0	0	0	0	1	0	0	0	8784	1522	53	3	673	3	LILRA1	19	55106865	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	87	55106865	4022118	10253	15361										
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107308	55107308	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccctgggccctgtgagccGctcctacgggggccagtaca					rs35534776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107308G>C	ENST00000251372.3	+	6	1048	c.866G>C	c.(865-867)cGc>cCc	p.R289P	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGTGAGCCGCTCCTACGGG	0.647													g|||	1458	0.291134	0.5182	0.268	5008	,	,		14929	0.2758		0.0974	False		,,,				2504	0.2157				p.R289P		Atlas-SNP	.											LILRA1,NS,carcinoma,0,1	LILRA1	105	1	0			c.G866C						PASS	.						43	58	53					19																	55107308		2203	4300	6503	SO:0001583	missense	11024	exon6			TGAGCCGCTCCTA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.866G>C	19.37:g.55107308G>C	ENSP00000251372:p.Arg289Pro	Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	210	200	0.952381	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	460	0.21062271062271062	193	0.39227642276422764	76	0.20994475138121546	141	0.2465034965034965	50	0.06596306068601583	G	0.637	-0.814876	0.02776	.	.	ENSG00000104974	ENST00000251372	T	0.11277	2.79	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.535700	0.01092	N	0.005193	T	0.00012	0.0000	N	0.11892	0.195	0.80722	P	0.0	B	0.06786	0.001	B	0.12156	0.007	T	0.47195	-0.9136	9	0.23302	T	0.38	.	1.3079	0.02092	0.1666:0.3949:0.2401:0.1984	rs35534776;rs61739252	289	O75019	LIRA1_HUMAN	P	289	ENSP00000251372:R289P	ENSP00000251372:R289P	R	+	2	0	LILRA1	59799120	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.648000	0.01995	-1.418000	0.02014	-1.052000	0.02337	CGC	G|0.851;C|0.149	0.149	strong		0.647	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55107308	G	C	55107308	3	2	22	1	0	0	0	0	1	0	0	0	8784	1087	38	4	884	4	LILRA1	19	55107308	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	443	55107308	4021675	10254	15362	327	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107313	55107313	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccctgtgagccgctccTacgggggccagtacagatgc					rs36029771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107313T>C	ENST00000251372.3	+	6	1053	c.871T>C	c.(871-873)Tac>Cac	p.Y291H	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	291	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCGCTCCTACGGGGGCCA	0.657													t|||	1458	0.291134	0.5189	0.2666	5008	,	,		15549	0.2758		0.0974	False		,,,				2504	0.2157				p.Y291H		Atlas-SNP	.											.	LILRA1	105	.	0			c.T871C						PASS	.						39	56	50					19																	55107313		2202	4300	6502	SO:0001583	missense	11024	exon6			CGCTCCTACGGGG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.871T>C	19.37:g.55107313T>C	ENSP00000251372:p.Tyr291His	Somatic	310	1	0.00322581		WXS	Illumina HiSeq	Phase_I	212	201	0.948113	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	470	0.21520146520146521	193	0.39227642276422764	79	0.21823204419889503	142	0.24825174825174826	56	0.07387862796833773	t	0.004	-2.309842	0.00237	.	.	ENSG00000104974	ENST00000251372	T	0.00659	5.94	1.73	-1.24	0.09435	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.842666	0.10069	N	0.719984	T	0.00012	0.0000	N	0.00134	-2.025	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.32640	-0.9899	9	0.02654	T	1	.	4.5295	0.11997	0.0:0.4043:0.0:0.5957	rs36029771;rs61739254	291	O75019	LIRA1_HUMAN	H	291	ENSP00000251372:Y291H	ENSP00000251372:Y291H	Y	+	1	0	LILRA1	59799125	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.361000	0.07612	-0.269000	0.09298	-1.366000	0.01203	TAC	T|0.849;C|0.151	0.151	strong		0.657	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55107313	T	C	55107313	3	2	22	1	0	0	0	0	1	0	0	0	8784	1522	53	3	889	3	LILRA1	19	55107313	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	55107313	4021670	10255	15363	327	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107336	55107336	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggggccagtacagatgctcCggtgcatacaacctctcctc					rs34058364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107336C>T	ENST00000251372.3	+	6	1076	c.894C>T	c.(892-894)tcC>tcT	p.S298S	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	298	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACAGATGCTCCGGTGCATACA	0.677													c|||	1456	0.290735	0.5166	0.268	5008	,	,		14602	0.2758		0.0974	False		,,,				2504	0.2157				p.S298S		Atlas-SNP	.											.	LILRA1	105	.	0			c.C894T						PASS	.						37	54	48					19																	55107336		2196	4300	6496	SO:0001819	synonymous_variant	11024	exon6			ATGCTCCGGTGCA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.894C>T	19.37:g.55107336C>T		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	185	172	0.92973	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			C|0.851;T|0.149	0.149	strong		0.677	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55107336	C	T	55107336	2	4	22	1	0	0	0	0	0	0	0	1	8784	639	23	1		1	LILRA1	19	55107336	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23	55107336	4021647	10256	15364	328	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107343	55107343	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtacagatgctccggtgcaTacaacctctcctccgagtgg					rs10425981	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107343T>C	ENST00000251372.3	+	6	1083	c.901T>C	c.(901-903)Tac>Cac	p.Y301H	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	301	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTCCGGTGCATACAACCTCTC	0.682																																					p.Y301H		Atlas-SNP	.											.	LILRA1	105	.	0			c.T901C						PASS	.	C	HIS/TYR	1769,2627		391,987,820	36	53	47		901	0.7	0.1	19	dbSNP_119	47	564,8034		40,484,3775	no	missense	LILRA1	NM_006863.1	83	431,1471,4595	CC,CT,TT		6.5597,40.2411,17.9544	benign	301/490	55107343	2333,10661	2198	4299	6497	SO:0001583	missense	11024	exon6			GGTGCATACAACC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.901T>C	19.37:g.55107343T>C	ENSP00000251372:p.Tyr301His	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	174	161	0.925287	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	472	0.21611721611721613	192	0.3902439024390244	81	0.22375690607734808	147	0.256993006993007	52	0.06860158311345646	C	0.006	-2.081843	0.00371	0.402411	0.065597	ENSG00000104974	ENST00000251372	T	0.00730	5.77	1.73	0.667	0.17907	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.926202	0.08862	N	0.882865	T	0.00012	0.0000	N	0.01438	-0.865	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.13407	0.009	T	0.30534	-0.9975	9	0.02654	T	1	.	4.1781	0.10362	0.0:0.6043:0.0:0.3957	rs10425981	301	O75019	LIRA1_HUMAN	H	301	ENSP00000251372:Y301H	ENSP00000251372:Y301H	Y	+	1	0	LILRA1	59799155	0.000000	0.05858	0.075000	0.20258	0.011000	0.07611	-0.152000	0.10159	-0.049000	0.13379	-1.033000	0.02402	TAC	T|0.832;C|0.168	0.168	strong		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55107343	T	C	55107343	3	2	22	1	0	0	0	0	1	0	0	0	8784	1406	49	2	919	2	LILRA1	19	55107343	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7	55107343	4021640	10257	15365	328	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107354	55107354	+	Silent	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccggtgcatacaacctctcCtccgagtggtcggcccccag					rs61739190	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107354C>G	ENST00000251372.3	+	6	1094	c.912C>G	c.(910-912)tcC>tcG	p.S304S	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	304	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACAACCTCTCCTCCGAGTGGT	0.677													g|||	807	0.161142	0.4009	0.0994	5008	,	,		15138	0.0079		0.0924	False		,,,				2504	0.1094				p.S304S		Atlas-SNP	.											.	LILRA1	105	.	0			c.C912G						PASS	.						32	48	43					19																	55107354		2200	4299	6499	SO:0001819	synonymous_variant	11024	exon6			CCTCTCCTCCGAG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.912C>G	19.37:g.55107354C>G		Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	157	70	0.44586	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			C|0.920;G|0.080	0.080	strong		0.677	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		G	55107354	C	G	55107354	2	3	22	1	0	0	0	0	0	0	0	1	8784	668	24	4		4	LILRA1	19	55107354	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11	55107354	4021629	10258	15366	329	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107357	55107357	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgcatacaacctctcctcCgagtggtcggcccccagcga					rs35066441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107357C>T	ENST00000251372.3	+	6	1097	c.915C>T	c.(913-915)tcC>tcT	p.S305S	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	305	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCTCTCCTCCGAGTGGTCGG	0.682													c|||	808	0.161342	0.4009	0.0994	5008	,	,		14575	0.0079		0.0924	False		,,,				2504	0.1104				p.S305S		Atlas-SNP	.											.	LILRA1	105	.	0			c.C915T						PASS	.						31	46	41					19																	55107357		2200	4299	6499	SO:0001819	synonymous_variant	11024	exon6			CTCCTCCGAGTGG	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.915C>T	19.37:g.55107357C>T		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	153	68	0.444444	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			C|0.920;T|0.080	0.080	strong		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55107357	C	T	55107357	2	4	22	1	0	0	0	0	0	0	0	1	8784	639	23	1		1	LILRA1	19	55107357	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	55107357	4021626	10259	15367	329	2								
LILRA1	11024	hgsc.bcm.edu	37	chr19	55107869	55107869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctgtgacctcagcccacTcggggacctacaggtgctac	11	15	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55107869T>G	ENST00000251372.3	+	7	1356	c.1174T>G	c.(1174-1176)Tcg>Gcg	p.S392A	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	392	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S392T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTCAGCCCACTCGGGGACCTA	0.587																																					p.S392A		Atlas-SNP	.											LILRA1,NS,carcinoma,0,2	LILRA1	105	2	1	Substitution - Missense(1)	lung(1)	c.T1174G						scavenged	.						144	135	138					19																	55107869		2203	4300	6503	SO:0001583	missense	11024	exon7			GCCCACTCGGGGA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1174T>G	19.37:g.55107869T>G	ENSP00000251372:p.Ser392Ala	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	254	14	0.0551181	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.088474	0.00367	.	.	ENSG00000104974	ENST00000251372	T	0.03553	3.89	1.8	-3.59	0.04583	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.846833	0.09755	N	0.760012	T	0.00608	0.0020	N	0.00123	-2.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33292	-0.9874	10	0.02654	T	1	.	0.6627	0.00845	0.4001:0.1718:0.2547:0.1734	.	392	O75019	LIRA1_HUMAN	A	392	ENSP00000251372:S392A	ENSP00000251372:S392A	S	+	1	0	LILRA1	59799681	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.554000	0.02172	-1.875000	0.01132	-0.982000	0.02568	TCG	.	.	none		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		G	55107869	T	G	55107869	3	3	22	1	0	0	0	0	1	0	0	0	8784	1551	54	5	1196	5	LILRA1	19	55107869	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	512	55107869	4021114	10260	15368										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55148031	55148031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagaaatggcctctcctccTtccccactgtctggggaatt	9	13	2	1	rs41308746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55148031T>C	ENST00000396331.1	+	15	2091	c.1734T>C	c.(1732-1734)ccT>ccC	p.P578P	LILRB1_ENST00000396317.1_Silent_p.P562P|LILRB1_ENST00000396321.2_Silent_p.P578P|LILRB1_ENST00000396327.3_Silent_p.P579P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P562P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P580P|LILRB1_ENST00000396332.4_Silent_p.P579P|LILRB1_ENST00000324602.7_Silent_p.P580P|LILRB1_ENST00000434867.2_Silent_p.P578P|LILRB1_ENST00000427581.2_Silent_p.P629P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCCTCCTTCCCCACTGT	0.582										HNSCC(37;0.09)			t|||	554	0.110623	0.1785	0.0893	5008	,	,		16680	0.0139		0.1491	False		,,,				2504	0.0941				p.P580P		Atlas-SNP	.											LILRB1,NS,carcinoma,+2,1	LILRB1	140	1	0			c.T1740C						scavenged	.						111	95	100					19																	55148031		2200	4295	6495	SO:0001819	synonymous_variant	10859	exon14			TCCTCCTTCCCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1734T>C	19.37:g.55148031T>C		Somatic	335	6	0.0179104		WXS	Illumina HiSeq	Phase_I	409	6	0.0146699	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																			.	.	weak		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55148031	T	C	55148031	2	2	22	1	0	0	0	0	0	0	0	1	8790	1596	56	3		3	LILRB1	19	55148031	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	40162	55148031	3980952	10261	15369										
LILRB4	11006	hgsc.bcm.edu	37	chr19	55178162	55178162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggtgctgccgtgaagAacacacagcctgaggacggg	15	11	0	3	rs11574576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55178162A>G	ENST00000391736.1	+	12	1318	c.1003A>G	c.(1003-1005)Aac>Gac	p.N335D	LILRB4_ENST00000270452.2_Missense_Mutation_p.N335D|LILRB4_ENST00000391733.3_Missense_Mutation_p.N336D|LILRB4_ENST00000391734.3_Missense_Mutation_p.N335D|LILRB4_ENST00000430952.2_Missense_Mutation_p.N335D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	335			N -> D (in dbSNP:rs11574576).		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCCGTGAAGAACACACAGCC	0.612													A|||	2247	0.448682	0.4395	0.3429	5008	,	,		17280	0.5615		0.2903	False		,,,				2504	0.5828				p.N335D		Atlas-SNP	.											.	LILRB4	86	.	0			c.A1003G						PASS	.	A	ASP/ASN,ASP/ASN	1749,2657	521.1+/-370.4	367,1015,821	125	113	117		1003,1003	-3.5	0	19	dbSNP_120	117	2451,6149	405.5+/-348.5	339,1773,2188	yes	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	23,23	706,2788,3009	GG,GA,AA		28.5,39.6959,32.2928	benign,benign	335/448,335/449	55178162	4200,8806	2203	4300	6503	SO:0001583	missense	11006	exon10			GTGAAGAACACAC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1003A>G	19.37:g.55178162A>G	ENSP00000375616:p.Asn335Asp	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	233	111	0.476395	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	895	0.4097985347985348	215	0.4369918699186992	111	0.30662983425414364	337	0.5891608391608392	232	0.30606860158311344	A	0.007	-2.003554	0.00431	0.396959	0.285	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00454	7.33;7.33;7.34;7.32;7.35;7.36	1.9	-3.45	0.04781	.	.	.	.	.	T	0.00012	0.0000	N	0.00332	-1.63	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.24476	-1.0159	8	0.02654	T	1	.	6.5292	0.22318	0.6493:0.0:0.3507:0.0	rs11574576;rs13343440;rs52815740;rs59068627;rs11574576	335;334;336;335;335	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	D	335;335;335;335;336;334	ENSP00000375616:N335D;ENSP00000270452:N335D;ENSP00000408995:N335D;ENSP00000375614:N335D;ENSP00000375613:N336D;ENSP00000401962:N334D	ENSP00000270452:N335D	N	+	1	0	LILRB4	59869974	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.001000	0.13038	-0.842000	0.04195	-0.330000	0.08379	AAC	A|0.646;C|0.000;G|0.354	0.354	strong		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			G	55178162	A	G	55178162	3	3	22	1	0	0	0	0	1	0	0	0	8793	246	9	2	1041	2	LILRB4	19	55178162	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30131	55178162	3950821	10262	15370										
LILRB4	11006	hgsc.bcm.edu	37	chr19	55179145	55179145	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccaaggtgaaacactccagAcctaggagagaaatggcctc	11	11	0	3	rs61738946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55179145A>T	ENST00000391736.1	+	13	1416	c.1101A>T	c.(1099-1101)agA>agT	p.R367S	LILRB4_ENST00000270452.2_Missense_Mutation_p.R367S|LILRB4_ENST00000391733.3_Missense_Mutation_p.R368S|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Missense_Mutation_p.R366S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	367					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AACACTCCAGACCTAGGAGAG	0.567																																					p.R367S		Atlas-SNP	.											LILRB4,NS,carcinoma,+2,1	LILRB4	86	1	0			c.A1101T						scavenged	.						116	118	117					19																	55179145		2203	4300	6503	SO:0001583	missense	11006	exon11			CTCCAGACCTAGG	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1101A>T	19.37:g.55179145A>T	ENSP00000375616:p.Arg367Ser	Somatic	370	7	0.0189189		WXS	Illumina HiSeq	Phase_I	432	21	0.0486111	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	23	0.010531135531135532	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	6.892	0.534167	0.13188	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00505	6.93;6.93;7.0;6.94;6.93	1.73	1.73	0.24493	.	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.23490	0.002;0.086;0.086;0.043	B;B;B;B	0.12837	0.0;0.008;0.008;0.007	T	0.40627	-0.9553	9	0.27785	T	0.31	.	5.5252	0.16955	1.0:0.0:0.0:0.0	rs61738946	366;368;366;367	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	367;367;366;368;366	ENSP00000375616:R367S;ENSP00000270452:R367S;ENSP00000408995:R366S;ENSP00000375613:R368S;ENSP00000401962:R366S	ENSP00000270452:R367S	R	+	3	2	LILRB4	59870957	0.002000	0.14202	0.018000	0.16275	0.021000	0.10359	0.274000	0.18680	1.054000	0.40438	0.459000	0.35465	AGA	A|0.990;T|0.010	0.010	strong		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55179145	A	T	55179145	3	4	22	1	0	0	0	0	1	0	0	0	8793	272	10	5	1143	5	LILRB4	19	55179145	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	983	55179145	3949838	10263	15371										
LILRB4	11006	hgsc.bcm.edu	37	chr19	55179364	55179364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggatgtgacctacgcccAgctgcacagctttaccctca	8	16	1	1	rs1048801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55179364A>G	ENST00000391736.1	+	14	1556	c.1241A>G	c.(1240-1242)cAg>cGg	p.Q414R	LILRB4_ENST00000270452.2_Missense_Mutation_p.Q414R|LILRB4_ENST00000391733.3_Missense_Mutation_p.Q415R|LILRB4_ENST00000391734.3_Missense_Mutation_p.Q361R|LILRB4_ENST00000430952.2_Missense_Mutation_p.Q413R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	414			Q -> R (in dbSNP:rs1048801). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9548455}.		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACCTACGCCCAGCTGCACAGC	0.647													A|||	1888	0.376997	0.4803	0.3818	5008	,	,		15595	0.3155		0.327	False		,,,				2504	0.3487				p.Q414R		Atlas-SNP	.											LILRB4,NS,carcinoma,-1,1	LILRB4	86	1	0			c.A1241G						PASS	.	A	ARG/GLN,ARG/GLN	1972,2434	555.8+/-379.4	476,1020,707	84	88	87		1238,1241	1	0	19	dbSNP_86	87	3210,5390	484.2+/-371.3	578,2054,1668	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	43,43	1054,3074,2375	GG,GA,AA		37.3256,44.7571,39.8431	possibly-damaging,possibly-damaging	413/448,414/449	55179364	5182,7824	2203	4300	6503	SO:0001583	missense	11006	exon12			ACGCCCAGCTGCA	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1241A>G	19.37:g.55179364A>G	ENSP00000375616:p.Gln414Arg	Somatic	349	1	0.00286533		WXS	Illumina HiSeq	Phase_I	390	371	0.951282	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	788	0.3608058608058608	225	0.4573170731707317	144	0.39779005524861877	171	0.29895104895104896	248	0.32717678100263853	A	10.65	1.410687	0.25465	0.447571	0.373256	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.01084	5.36;5.36;5.37;6.51;5.37	2.07	0.983	0.19767	.	.	.	.	.	T	0.00012	0.0000	M	0.86864	2.845	0.80722	P	0.0	D;D;D;D	0.65815	0.992;0.995;0.985;0.963	P;P;P;P	0.56563	0.584;0.763;0.801;0.543	T	0.46048	-0.9219	8	0.51188	T	0.08	.	3.8581	0.08984	0.7937:0.0:0.2063:0.0	rs1048801;rs3177732;rs3188849;rs11574595;rs16985517;rs17845809;rs17858774;rs52795380;rs59824494	361;415;413;414	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	R	414;414;413;361;415	ENSP00000375616:Q414R;ENSP00000270452:Q414R;ENSP00000408995:Q413R;ENSP00000375614:Q361R;ENSP00000375613:Q415R	ENSP00000270452:Q414R	Q	+	2	0	LILRB4	59871176	0.111000	0.22076	0.032000	0.17829	0.331000	0.28603	1.012000	0.29924	0.089000	0.17243	0.334000	0.21626	CAG	A|0.608;G|0.392	0.392	strong		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			G	55179364	A	G	55179364	3	3	22	1	0	0	0	0	1	0	0	0	8793	188	7	3	1287	3	LILRB4	19	55179364	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	219	55179364	3949619	10264	15372										
LILRB4	11006	hgsc.bcm.edu	37	chr19	55179377	55179377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgcccagctgcacagcttTaccctcagacagaaggcaac	8	15	1	2	rs149600113		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55179377T>G	ENST00000391736.1	+	14	1569	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	418					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACAGCTTTACCCTCAGAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16015	0.0		0.0	False		,,,				2504	0.0				p.F418L		Atlas-SNP	.											LILRB4,NS,carcinoma,0,1	LILRB4	86	1	0			c.T1254G						scavenged	.						93	97	95					19																	55179377		2203	4300	6503	SO:0001583	missense	11006	exon12			CAGCTTTACCCTC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1254T>G	19.37:g.55179377T>G	ENSP00000375616:p.Phe418Leu	Somatic	352	2	0.00568182		WXS	Illumina HiSeq	Phase_I	389	9	0.0231362	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292496	0.01375	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00460	7.32;7.32;7.31;7.27;7.33	2.07	-0.638	0.11500	.	.	.	.	.	T	0.00073	0.0002	N	0.00251	-1.775	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	0.6834	0.00878	0.1703:0.2396:0.3472:0.2428	.	365;419;417;418	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	418;418;417;365;419	ENSP00000375616:F418L;ENSP00000270452:F418L;ENSP00000408995:F417L;ENSP00000375614:F365L;ENSP00000375613:F419L	ENSP00000270452:F418L	F	+	3	2	LILRB4	59871189	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.085000	0.14912	-0.134000	0.11516	-0.484000	0.04775	TTT	.	.	weak		0.627	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			G	55179377	T	G	55179377	3	3	22	1	0	0	0	0	1	0	0	0	8793	1751	61	5	1300	5	LILRB4	19	55179377	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13	55179377	3949606	10265	15373										
KIR3DL1	3811	hgsc.bcm.edu	37	chr19	55331419	55331419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acggttctgttactcacaccCcctatcagttgtcagctccc	6	16	4	0	rs143886704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55331419C>T	ENST00000391728.4	+	4	640	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P203S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P203S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P203S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P203S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P108S	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	203			P -> S (in dbSNP:rs2273731).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TACTCACACCCCCTATCAGTT	0.517													c|||	1118	0.223243	0.1362	0.2824	5008	,	,		13667	0.1617		0.4284	False		,,,				2504	0.1513				p.P203S		Atlas-SNP	.											KIR3DL1_ENST00000402254,NS,neuroblastoma,0,2	KIR3DL1	174	2	0			c.C607T						PASS	.	C	SER/PRO	729,3637		118,493,1572	150	128	136		607	-2.9	0	19	dbSNP_100	136	3261,5035		995,1271,1882	no	missense	KIR3DL1	NM_013289.2	74	1113,1764,3454	TT,TC,CC		39.3081,16.6972,31.5116		203/445	55331419	3990,8672	2183	4148	6331	SO:0001583	missense	3811	exon4			CACACCCCCTATC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.607C>T	19.37:g.55331419C>T	ENSP00000375608:p.Pro203Ser	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	204	104	0.509804	NM_013289	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	560	0.2564102564102564	67	0.13617886178861788	98	0.27071823204419887	86	0.15034965034965034	309	0.4076517150395778	-	5.868	0.344314	0.11126	0.166972	0.393081	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59;5.59	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.928050	0.04022	N	0.299910	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	P;P;B;P	0.44139	0.46;0.827;0.041;0.626	B;B;B;B	0.38985	0.058;0.287;0.03;0.036	T	0.28490	-1.0042	9	0.59425	D	0.04	.	1.9712	0.03406	0.2616:0.3423:0.0:0.3961	rs2273731;rs12971727	203;108;203;203	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	S	203;203;203;181;203;203;108	ENSP00000384528:P203S;ENSP00000443350:P203S;ENSP00000442355:P203S;ENSP00000375608:P203S;ENSP00000326868:P203S;ENSP00000350901:P108S	ENSP00000326868:P203S	P	+	1	0	KIR3DL1	60023231	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.035000	0.13797	-0.710000	0.05001	0.184000	0.17185	CCC	C|0.250;T|0.750	0.750	weak		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		T	55331419	C	T	55331419	3	4	22	1	0	0	0	0	1	0	0	0	8320	623	22	2	621	2	KIR3DL1	19	55331419	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152042	55331419	3797564	10266	15374										
KIR3DL1	3811	hgsc.bcm.edu	37	chr19	55341589	55341589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctgaggaggtgacataCgcacagttggatcactgcgt	13	10	1	2	rs112943025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55341589C>T	ENST00000391728.4	+	9	1227	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	KIR3DL1_ENST00000541392.1_Silent_p.Y381Y|KIR3DL1_ENST00000358178.4_Silent_p.Y303Y|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.Y398Y|KIR3DL1_ENST00000326542.7_Silent_p.Y381Y	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	398					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGGTGACATACGCACAGTTGG	0.517													.|||	324	0.0646965	0.0658	0.0274	5008	,	,		15673	0.1101		0.0457	False		,,,				2504	0.0624				p.Y398Y		Atlas-SNP	.											.	KIR3DL1	174	.	0			c.C1194T						PASS	.	T		332,4010		56,220,1895	261	237	245		1194	-1.4	0	19	dbSNP_132	245	316,8024		64,188,3918	no	coding-synonymous	KIR3DL1	NM_013289.2		120,408,5813	TT,TC,CC		3.789,7.6462,5.1096		398/445	55341589	648,12034	2171	4170	6341	SO:0001819	synonymous_variant	3811	exon9			GACATACGCACAG	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1194C>T	19.37:g.55341589C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	114	45	0.394737	NM_013289	O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	CCDS42621.1																																																																																			C|0.946;T|0.054	0.054	strong		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		T	55341589	C	T	55341589	2	4	22	1	0	0	0	0	0	0	0	1	8320	547	19	1		1	KIR3DL1	19	55341589	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10170	55341589	3787394	10267	15375										
NCR1	9437	hgsc.bcm.edu	37	chr19	55420801	55420801	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgtgaccacagcccacCgagggacataccgatgtttt	10	14	0	1	rs3765013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55420801C>A	ENST00000291890.4	+	4	591	c.553C>A	c.(553-555)Cga>Aga	p.R185R	NCR1_ENST00000338835.5_Silent_p.R185R|NCR1_ENST00000594765.1_Silent_p.R185R|NCR1_ENST00000350790.5_Silent_p.R90R|NCR1_ENST00000598576.1_Silent_p.R173R|NCR1_ENST00000447255.1_Silent_p.R185R|NCR1_ENST00000357397.5_Silent_p.R78R	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	185	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CACAGCCCACCGAGGGACATA	0.567													.|||	2420	0.483227	0.7148	0.4236	5008	,	,		17754	0.5268		0.2286	False		,,,				2504	0.4294				p.R185R		Atlas-SNP	.											.	NCR1	60	.	0			c.C553A						PASS	.	A	,,,,	2787,1619	498.4+/-364.1	868,1051,284	84	82	82		553,553,268,268,553	-1.5	0	19	dbSNP_107	82	1935,6665	726.6+/-406.6	226,1483,2591	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCR1	NM_001145457.1,NM_001145458.1,NM_001242356.1,NM_001242357.1,NM_004829.5	,,,,	1094,2534,2875	AA,AC,CC		22.5,36.7453,36.3063	,,,,	185/304,185/288,90/210,90/193,185/305	55420801	4722,8284	2203	4300	6503	SO:0001819	synonymous_variant	9437	exon4			GCCCACCGAGGGA	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.553C>A	19.37:g.55420801C>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_001145458	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	CCDS12911.1																																																																																			C|0.604;A|0.396	0.396	strong		0.567	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			A	55420801	C	A	55420801	2	1	22	1	0	0	0	0	0	0	0	1	10237	644	23	4		4	NCR1	19	55420801	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	79212	55420801	3708182	10268	15376										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55441971	55441971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggtttgtgaggctgcaGgcttcttggagcgcctctga	14	10	2	2	rs61746780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55441971G>A	ENST00000590030.1	-	8	2746	c.2706C>T	c.(2704-2706)gcC>gcT	p.A902A	NLRP7_ENST00000340844.2_Silent_p.A902A|NLRP7_ENST00000448121.2_Silent_p.A874A|NLRP7_ENST00000446217.1_Silent_p.A930A|NLRP7_ENST00000328092.5_Silent_p.A874A|NLRP7_ENST00000588756.1_Silent_p.A902A|NLRP7_ENST00000592784.1_Silent_p.A902A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	902							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAGGCTGCAGGCTTCTTGGA	0.463													.|||	128	0.0255591	0.09	0.0086	5008	,	,		17972	0.0		0.002	False		,,,				2504	0.001				p.A902A		Atlas-SNP	.											.	NLRP7	411	.	0			c.C2706T						PASS	.	G	,,	368,4038	187.4+/-214.1	15,338,1850	132	126	128		2706,2622,2706	-1.7	0	19	dbSNP_129	128	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	15,342,6146	AA,AG,GG		0.0465,8.3522,2.8602	,,	902/1038,874/1010,902/981	55441971	372,12634	2203	4300	6503	SO:0001819	synonymous_variant	199713	exon9			GCTGCAGGCTTCT	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2706C>T	19.37:g.55441971G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	111	63	0.567568	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																			G|0.976;A|0.024	0.024	strong		0.463	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55441971	G	A	55441971	2	1	22	1	0	0	0	0	0	0	0	1	10482	987	35	2		2	NLRP7	19	55441971	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21170	55441971	3687012	10269	15377										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55450696	55450696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcttctgtacgtccccGatgtcccaggcgtggccgtc	12	15	1	0	rs775880	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55450696G>A	ENST00000590030.1	-	3	1531	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	NLRP7_ENST00000340844.2_Silent_p.I497I|NLRP7_ENST00000448121.2_Silent_p.I497I|NLRP7_ENST00000446217.1_Silent_p.I525I|NLRP7_ENST00000328092.5_Silent_p.I497I|NLRP7_ENST00000588756.1_Silent_p.I497I|NLRP7_ENST00000592784.1_Silent_p.I497I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	497							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTACGTCCCCGATGTCCCAGG	0.562													.|||	447	0.0892572	0.2368	0.0562	5008	,	,		18553	0.003		0.0706	False		,,,				2504	0.0215				p.I497I		Atlas-SNP	.											.	NLRP7	411	.	0			c.C1491T						PASS	.	A	,,	922,3484	736.7+/-410.8	100,722,1381	72	69	70		1491,1491,1491	-1.5	0	19	dbSNP_86	70	314,8286	801.4+/-407.4	3,308,3989	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	103,1030,5370	AA,AG,GG		3.6512,20.926,9.5033	,,	497/1038,497/1010,497/981	55450696	1236,11770	2203	4300	6503	SO:0001819	synonymous_variant	199713	exon4			GTCCCCGATGTCC	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1491C>T	19.37:g.55450696G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	136	64	0.470588	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																			G|0.908;A|0.092	0.092	strong		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450696	G	A	55450696	2	1	22	1	0	0	0	0	0	0	0	1	10482	1048	37	1		1	NLRP7	19	55450696	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8725	55450696	3678287	10270	15378										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55450727	55450727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtggccgtccctgtcctccCcctcctccttctccagggcg	9	21	1	0	rs775881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55450727C>T	ENST00000590030.1	-	3	1500	c.1460G>A	c.(1459-1461)gGg>gAg	p.G487E	NLRP7_ENST00000340844.2_Missense_Mutation_p.G487E|NLRP7_ENST00000448121.2_Missense_Mutation_p.G487E|NLRP7_ENST00000446217.1_Missense_Mutation_p.G515E|NLRP7_ENST00000328092.5_Missense_Mutation_p.G487E|NLRP7_ENST00000588756.1_Missense_Mutation_p.G487E|NLRP7_ENST00000592784.1_Missense_Mutation_p.G487E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	487	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		G -> E (in dbSNP:rs775881).				ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCTGTCCTCCCCCTCCTCCTT	0.582													.|||	629	0.125599	0.3888	0.0634	5008	,	,		18526	0.003		0.0477	False		,,,				2504	0.0204				p.G487E		Atlas-SNP	.											.	NLRP7	411	.	0			c.G1460A						PASS	.	T	GLU/GLY,GLU/GLY,GLU/GLY	1593,2813	662.7+/-401.1	277,1039,887	56	54	55		1460,1460,1460	-0.8	0	19	dbSNP_86	55	251,8349	808.2+/-407.2	4,243,4053	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	98,98,98	281,1282,4940	TT,TC,CC		2.9186,36.1552,14.1781	benign,benign,benign	487/1038,487/1010,487/981	55450727	1844,11162	2203	4300	6503	SO:0001583	missense	199713	exon4			TCCTCCCCCTCCT	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1460G>A	19.37:g.55450727C>T	ENSP00000465520:p.Gly487Glu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	99	42	0.424242	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	251	0.11492673992673992	193	0.39227642276422764	29	0.08011049723756906	0	0.0	29	0.03825857519788918	T	0.020	-1.447617	0.01089	0.361552	0.029186	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73897	-0.74;-0.74;-0.79;-0.77	1.56	-0.809	0.10864	.	.	.	.	.	T	0.00012	0.0000	N	0.01761	-0.735	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.10291	-1.0636	8	0.02654	T	1	.	2.9693	0.05918	0.0:0.3758:0.2638:0.3604	rs775881;rs56740557	515;487;487;487	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	E	487;487;487;515;254	ENSP00000329568:G487E;ENSP00000409137:G487E;ENSP00000339491:G487E;ENSP00000414273:G515E	ENSP00000329568:G487E	G	-	2	0	NLRP7	60142539	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	0.249000	0.18216	-0.813000	0.04357	-0.931000	0.02705	GGG	C|0.869;T|0.131	0.131	strong		0.582	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55450727	C	T	55450727	3	4	22	1	0	0	0	0	1	0	0	0	10482	623	22	2	1685	2	NLRP7	19	55450727	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31	55450727	3678256	10271	15379										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55450746	55450746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccctcctccttctccagggCgtagaacagggcagtgagaa	11	14	1	2	rs61747414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55450746C>T	ENST00000590030.1	-	3	1481	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NLRP7_ENST00000340844.2_Missense_Mutation_p.A481T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A481T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A509T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A481T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A481T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A481T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	481	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.			A -> T (in Ref. 4; AAI09126). {ECO:0000305}.			ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTCCAGGGCGTAGAACAGG	0.592													.|||	455	0.0908546	0.1762	0.0865	5008	,	,		18187	0.006		0.1272	False		,,,				2504	0.0286				p.A481T		Atlas-SNP	.											NLRP7_ENST00000328092,NS,carcinoma,+1,2	NLRP7	411	2	0			c.G1441A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA	691,3715	285.5+/-278.2	60,571,1572	49	48	48		1441,1441,1441	-3.8	0	19	dbSNP_129	48	837,7763	192.0+/-238.1	34,769,3497	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	58,58,58	94,1340,5069	TT,TC,CC		9.7326,15.6832,11.7484	benign,benign,benign	481/1038,481/1010,481/981	55450746	1528,11478	2203	4300	6503	SO:0001583	missense	199713	exon4			CCAGGGCGTAGAA	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1441G>A	19.37:g.55450746C>T	ENSP00000465520:p.Ala481Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	79	31	0.392405	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	218	0.09981684981684982	88	0.17886178861788618	35	0.09668508287292818	3	0.005244755244755245	92	0.12137203166226913	C	6.611	0.481139	0.12581	0.156832	0.097326	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73789	-0.71;-0.71;-0.78;-0.74	1.92	-3.83	0.04269	.	2.124680	0.03209	N	0.175938	T	0.00178	0.0005	L	0.33485	1.01	0.80722	P	0.0	B;B;B	0.27140	0.105;0.105;0.169	B;B;B	0.20184	0.022;0.022;0.028	T	0.01269	-1.1400	9	0.29301	T	0.29	.	0.9361	0.01345	0.1512:0.19:0.3005:0.3582	.	509;481;481	E7EPM2;Q8WX94;Q8WX94-2	.;NALP7_HUMAN;.	T	481;481;481;509;248	ENSP00000329568:A481T;ENSP00000409137:A481T;ENSP00000339491:A481T;ENSP00000414273:A509T	ENSP00000329568:A481T	A	-	1	0	NLRP7	60142558	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-2.206000	0.01231	-1.499000	0.01821	-0.379000	0.06801	GCC	C|0.893;T|0.107	0.107	strong		0.592	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55450746	C	T	55450746	3	4	22	1	0	0	0	0	1	0	0	0	10482	768	27	1	1704	1	NLRP7	19	55450746	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	19	55450746	3678237	10272	15380										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55451083	55451083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttcagagtcgtgcacacAatccagcacaccgcgggggc	12	14	1	1	rs1654636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55451083A>G	ENST00000590030.1	-	3	1144	c.1104T>C	c.(1102-1104)atT>atC	p.I368I	NLRP7_ENST00000448121.2_Silent_p.I368I|NLRP7_ENST00000588756.1_Silent_p.I368I|NLRP7_ENST00000328092.5_Silent_p.I368I|NLRP7_ENST00000592784.1_Silent_p.I368I|NLRP7_ENST00000446217.1_Silent_p.I396I|NLRP7_ENST00000340844.2_Silent_p.I368I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	368	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCGTGCACACAATCCAGCACA	0.642													.|||	123	0.0245607	0.0666	0.0202	5008	,	,		16521	0.002		0.0189	False		,,,				2504	0.0				p.I368I		Atlas-SNP	.											NLRP7_ENST00000328092,NS,carcinoma,-2,2	NLRP7	411	2	0			c.T1104C						scavenged	.						37	40	39					19																	55451083		2201	4299	6500	SO:0001819	synonymous_variant	199713	exon4			GCACACAATCCAG	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1104T>C	19.37:g.55451083A>G		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	94	18	0.191489	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																			A|0.949;G|0.051	0.051	strong		0.642	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		G	55451083	A	G	55451083	2	3	22	1	0	0	0	0	0	0	0	1	10482	126	5	2		2	NLRP7	19	55451083	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	337	55451083	3677900	10273	15381										
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55606944	55606944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcttcaggaggccaaagcGcctggagaagggggcctctt	15	10	3	1	rs35849605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55606944G>A	ENST00000263433.3	-	10	1270	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R345C|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R419C	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGGCCAAAGCGCCTGGAGAAG	0.627													G|||	126	0.0251597	0.0923	0.0058	5008	,	,		14816	0.0		0.0	False		,,,				2504	0.0				p.R419C		Atlas-SNP	.											.	PPP1R12C	46	.	0			c.C1255T						PASS	.	G	CYS/ARG	353,4039		9,335,1852	10	12	11		1255	2.9	1	19	dbSNP_126	11	3,8557		0,3,4277	yes	missense	PPP1R12C	NM_017607.2	180	9,338,6129	AA,AG,GG		0.035,8.0373,2.7486	probably-damaging	419/783	55606944	356,12596	2196	4280	6476	SO:0001583	missense	54776	exon10			CAAAGCGCCTGGA	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1255C>T	19.37:g.55606944G>A	ENSP00000263433:p.Arg419Cys	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	76	39	0.513158	NM_017607		Missense_Mutation	SNP	ENST00000263433.3	37	CCDS12916.1	51	0.023351648351648352	49	0.09959349593495935	2	0.0055248618784530384	0	0.0	0	0.0	G	18.24	3.580072	0.65992	0.080373	3.5E-4	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.70045	-0.3;-0.32;-0.45	3.95	2.91	0.33838	.	0.302492	0.23868	N	0.043762	T	0.05044	0.0135	M	0.72353	2.195	0.43703	D	0.99616	D;D;D	0.61697	0.99;0.987;0.978	P;P;P	0.50896	0.556;0.653;0.451	T	0.36672	-0.9738	10	0.87932	D	0	.	6.5557	0.22460	0.1281:0.0:0.8719:0.0	rs35849605	345;418;419	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	C	419;419;345	ENSP00000263433:R419C;ENSP00000365573:R419C;ENSP00000387833:R345C	ENSP00000263433:R419C	R	-	1	0	PPP1R12C	60298756	0.719000	0.27986	0.986000	0.45419	0.973000	0.67179	0.866000	0.27954	2.147000	0.66899	0.549000	0.68633	CGC	G|0.958;A|0.042	0.042	strong		0.627	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		A	55606944	G	A	55606944	3	1	22	1	0	0	0	0	1	0	0	0	12356	1087	38	1	1145	1	PPP1R12C	19	55606944	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	155861	55606944	3522039	10274	15382										
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55607447	55607447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttcttccccctcatcctcGtcctggatggggggcccccc	9	20	2	0	rs35641913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55607447G>A	ENST00000263433.3	-	8	1140	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	PPP1R12C_ENST00000435544.2_Silent_p.D301D|PPP1R12C_ENST00000376393.2_Silent_p.D375D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCATCCTCGTCCTGGATGG	0.642													G|||	111	0.0221645	0.0825	0.0029	5008	,	,		14673	0.0		0.0	False		,,,				2504	0.0				p.D375D		Atlas-SNP	.											PPP1R12C,NS,carcinoma,0,1	PPP1R12C	46	1	0			c.C1125T						PASS	.	G		328,4078	163.6+/-195.4	9,310,1884	53	66	62		1125	-7.5	0.4	19	dbSNP_126	62	1,8595		0,1,4297	no	coding-synonymous	PPP1R12C	NM_017607.2		9,311,6181	AA,AG,GG		0.0116,7.4444,2.5304		375/783	55607447	329,12673	2203	4298	6501	SO:0001819	synonymous_variant	54776	exon8			ATCCTCGTCCTGG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1125C>T	19.37:g.55607447G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	40	20	0.5	NM_017607		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			G|0.976;A|0.024	0.024	strong		0.642	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		A	55607447	G	A	55607447	2	1	22	1	0	0	0	0	0	0	0	1	12356	1136	40	1		1	PPP1R12C	19	55607447	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	503	55607447	3521536	10275	15383										
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55623871	55623871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccttcagcagcccctccaTggcgtccgactcggccaggt	11	18	1	0	rs116840455	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55623871T>G	ENST00000263433.3	-	3	550	c.535A>C	c.(535-537)Atg>Ctg	p.M179L	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.M105L|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.M179L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGCCCCTCCATGGCGTCCGAC	0.701													T|||	47	0.00938498	0.0356	0.0	5008	,	,		12736	0.0		0.0	False		,,,				2504	0.0				p.M179L		Atlas-SNP	.											.	PPP1R12C	46	.	0			c.A535C						PASS	.	T	LEU/MET	136,4270		0,136,2067	22	28	26		535	2	1	19	dbSNP_132	26	0,8596		0,0,4298	yes	missense	PPP1R12C	NM_017607.2	15	0,136,6365	GG,GT,TT		0.0,3.0867,1.046	possibly-damaging	179/783	55623871	136,12866	2203	4298	6501	SO:0001583	missense	54776	exon3			CCTCCATGGCGTC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.535A>C	19.37:g.55623871T>G	ENSP00000263433:p.Met179Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	93	38	0.408602	NM_017607		Missense_Mutation	SNP	ENST00000263433.3	37	CCDS12916.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	T	17.05	3.291102	0.59976	0.030867	0.0	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.51574	0.7;0.7;0.7	5.24	2.02	0.26589	Ankyrin repeat-containing domain (3);	0.106312	0.64402	D	0.000009	T	0.12263	0.0298	L	0.31578	0.945	0.41995	D	0.990866	B;B;B	0.25441	0.126;0.122;0.075	B;B;B	0.23150	0.02;0.044;0.02	T	0.03875	-1.0996	10	0.44086	T	0.13	.	7.5728	0.27918	0.0:0.2535:0.0:0.7465	.	105;179;179	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	L	179;179;105	ENSP00000263433:M179L;ENSP00000365573:M179L;ENSP00000387833:M105L	ENSP00000263433:M179L	M	-	1	0	PPP1R12C	60315683	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	2.280000	0.43443	0.421000	0.25980	0.459000	0.35465	ATG	T|0.990;G|0.010	0.010	strong		0.701	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55623871	T	G	55623871	3	3	22	1	0	0	0	0	1	0	0	0	12356	1464	51	5	1893	5	PPP1R12C	19	55623871	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16424	55623871	3505112	10276	15384										
BRSK1	84446	hgsc.bcm.edu	37	chr19	55815072	55815072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggattctcccatgctgagCcgtcacgggaagcggcgacc	14	13	2	1	rs17851414	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55815072C>T	ENST00000309383.1	+	12	1441	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	BRSK1_ENST00000590333.1_Silent_p.S404S|BRSK1_ENST00000326848.7_Silent_p.S83S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	388					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCATGCTGAGCCGTCACGGGA	0.617													C|||	156	0.0311502	0.115	0.0058	5008	,	,		15985	0.0		0.0	False		,,,				2504	0.0				p.S388S		Atlas-SNP	.											.	BRSK1	192	.	0			c.C1164T						PASS	.	C		400,4006		19,362,1822	63	72	69		1164	4	1	19	dbSNP_123	69	3,8597		0,3,4297	no	coding-synonymous	BRSK1	NM_032430.1		19,365,6119	TT,TC,CC		0.0349,9.0785,3.0986		388/779	55815072	403,12603	2203	4300	6503	SO:0001819	synonymous_variant	84446	exon12			GCTGAGCCGTCAC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1164C>T	19.37:g.55815072C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																			C|0.969;T|0.031	0.031	strong		0.617	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		T	55815072	C	T	55815072	2	4	22	1	0	0	0	0	0	0	0	1	1523	738	26	2		2	BRSK1	19	55815072	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	191201	55815072	3313911	10277	15385										
BRSK1	84446	hgsc.bcm.edu	37	chr19	55815159	55815159	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggctcccctgtacccacCcgacgggccttggagatggc	14	15	0	1	rs17851415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55815159C>A	ENST00000309383.1	+	12	1528	c.1251C>A	c.(1249-1251)acC>acA	p.T417T	BRSK1_ENST00000590333.1_Silent_p.T433T|BRSK1_ENST00000326848.7_Silent_p.T112T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	417					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTGTACCCACCCGACGGGCCT	0.637													C|||	420	0.0838658	0.1452	0.0576	5008	,	,		15128	0.0883		0.0268	False		,,,				2504	0.0736				p.T417T		Atlas-SNP	.											.	BRSK1	192	.	0			c.C1251A						PASS	.	C		529,3877		37,455,1711	39	45	43		1251	-1.2	1	19	dbSNP_123	43	311,8289		8,295,3997	no	coding-synonymous	BRSK1	NM_032430.1		45,750,5708	AA,AC,CC		3.6163,12.0064,6.4586		417/779	55815159	840,12166	2203	4300	6503	SO:0001819	synonymous_variant	84446	exon12			ACCCACCCGACGG	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1251C>A	19.37:g.55815159C>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	111	49	0.441441	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																			C|0.936;A|0.064	0.064	strong		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		A	55815159	C	A	55815159	2	1	22	1	0	0	0	0	0	0	0	1	1523	610	22	4		4	BRSK1	19	55815159	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	87	55815159	3313824	10278	15386										
BRSK1	84446	hgsc.bcm.edu	37	chr19	55817676	55817676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttcagggccgagtacaaGgccagtggcggcccctccgt	14	14	1	0	rs12973169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55817676G>A	ENST00000309383.1	+	17	2224	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	BRSK1_ENST00000590333.1_Silent_p.K665K|BRSK1_ENST00000326848.7_Silent_p.K344K	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	649					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCGAGTACAAGGCCAGTGGCG	0.642													G|||	451	0.0900559	0.1944	0.0836	5008	,	,		20548	0.0		0.1163	False		,,,				2504	0.0194				p.K649K		Atlas-SNP	.											.	BRSK1	192	.	0			c.G1947A						PASS	.	G		719,3687		68,583,1552	61	61	61		1947	4.1	1	19	dbSNP_121	61	830,7770		38,754,3508	no	coding-synonymous	BRSK1	NM_032430.1		106,1337,5060	AA,AG,GG		9.6512,16.3187,11.9099		649/779	55817676	1549,11457	2203	4300	6503	SO:0001819	synonymous_variant	84446	exon17			GTACAAGGCCAGT	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1947G>A	19.37:g.55817676G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	35	0.432099	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																			G|0.889;A|0.111	0.111	strong		0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		A	55817676	G	A	55817676	2	1	22	1	0	0	0	0	0	0	0	1	1523	991	35	2		2	BRSK1	19	55817676	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2517	55817676	3311307	10279	15387										
BRSK1	84446	hgsc.bcm.edu	37	chr19	55823421	55823421	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagctcctggccaccaacggGacccctctgccctgacccca	8	20	1	1	rs113284733	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55823421G>C	ENST00000309383.1	+	19	2599	c.2322G>C	c.(2320-2322)ggG>ggC	p.G774G	BRSK1_ENST00000590333.1_Silent_p.G790G|BRSK1_ENST00000326848.7_Silent_p.G469G|CTD-2105E13.14_ENST00000596786.1_RNA	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	774					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCACCAACGGGACCCCTCTGC	0.706													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		6575	0.0		0.0	False		,,,				2504	0.0				p.G774G		Atlas-SNP	.											.	BRSK1	192	.	0			c.G2322C						PASS	.	G		13,3847		0,13,1917	6	7	7		2322	2.6	1	19	dbSNP_132	7	0,7676		0,0,3838	no	coding-synonymous	BRSK1	NM_032430.1		0,13,5755	CC,CG,GG		0.0,0.3368,0.1127		774/779	55823421	13,11523	1930	3838	5768	SO:0001819	synonymous_variant	84446	exon19			CAACGGGACCCCT	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2322G>C	19.37:g.55823421G>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	60	27	0.45	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																			G|0.998;C|0.002	0.002	strong		0.706	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		C	55823421	G	C	55823421	2	2	22	1	0	0	0	0	0	0	0	1	1523	1161	41	4		4	BRSK1	19	55823421	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5745	55823421	3305562	10280	15388										
ISOC2	79763	hgsc.bcm.edu	37	chr19	55967848	55967848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaggctgggcctggcagcCgccattttctgggggtgggc	17	13	1	0	rs11555784	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55967848C>T	ENST00000425675.2	-	2	66	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ISOC2_ENST00000438389.2_Silent_p.A2A|ISOC2_ENST00000085068.3_Silent_p.A2A			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	2					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GCCTGGCAGCCGCCATTTTCT	0.642													.|||	227	0.0453275	0.1316	0.0331	5008	,	,		15010	0.0		0.0268	False		,,,				2504	0.0031				p.A2A		Atlas-SNP	.											.	ISOC2	16	.	0			c.G6A						PASS	.	C	,,	528,3878	229.1+/-243.8	32,464,1707	44	44	44		6,6,6	-2.1	0.1	19	dbSNP_126	44	295,8303	103.6+/-164.7	7,281,4011	no	coding-synonymous,coding-synonymous,coding-synonymous	ISOC2	NM_001136201.1,NM_001136202.1,NM_024710.2	,,	39,745,5718	TT,TC,CC		3.431,11.9837,6.3288	,,	2/206,2/136,2/222	55967848	823,12181	2203	4299	6502	SO:0001819	synonymous_variant	79763	exon2			GGCAGCCGCCATT	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.6G>A	19.37:g.55967848C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	26	0.382353	NM_001136202	Q6ZN91|Q9H5G0	Silent	SNP	ENST00000425675.2	37	CCDS46195.1																																																																																			C|0.939;T|0.061	0.061	strong		0.642	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		T	55967848	C	T	55967848	2	4	22	1	0	0	0	0	0	0	0	1	7863	639	23	1		1	ISOC2	19	55967848	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	144427	55967848	3161135	10281	15389										
ZNF628	89887	hgsc.bcm.edu	37	chr19	55994975	55994975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatcgttctgcagaatgtGgggggtggggaggcagggcc	19	8	2	1	rs114065657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:55994975G>T	ENST00000598519.1	+	3	2968	c.2415G>T	c.(2413-2415)gtG>gtT	p.V805V	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.V801V|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	805	Gly-rich.				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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCAGAATGTGGGGGGTGGGG	0.692													g|||	82	0.0163738	0.0598	0.0029	5008	,	,		13204	0.0		0.001	False		,,,				2504	0.0				p.V805V		Atlas-SNP	.											.	ZNF628	75	.	0			c.G2415T						PASS	.	G		212,4192		2,208,1992	32	41	38		2403	-1.7	0.8	19	dbSNP_132	38	2,8592		0,2,4295	no	coding-synonymous	ZNF628	NM_033113.2		2,210,6287	TT,TG,GG		0.0233,4.8138,1.6464		801/1056	55994975	214,12784	2202	4297	6499	SO:0001819	synonymous_variant	89887	exon3			GAATGTGGGGGGT	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2415G>T	19.37:g.55994975G>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	93	50	0.537634	NM_033113	Q86X34	Silent	SNP	ENST00000598519.1	37	CCDS33116.3																																																																																			G|0.980;T|0.020	0.020	strong		0.692	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55994975	G	T	55994975	2	4	22	1	0	0	0	0	0	0	0	1	18049	1335	47	4		4	ZNF628	19	55994975	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27127	55994975	3134008	10282	15390										
NLRP11	204801	hgsc.bcm.edu	37	chr19	56303806	56303806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcttccaagggcgctgcAgcaattttcagtgagacagc	10	12	2	1	rs80143194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56303806A>C	ENST00000589093.1	-	7	2467	c.2374T>G	c.(2374-2376)Tgc>Ggc	p.C792G	NLRP11_ENST00000360133.3_Missense_Mutation_p.C738G|NLRP11_ENST00000589824.2_Missense_Mutation_p.C738G|NLRP11_ENST00000443188.1_Missense_Mutation_p.C792G|NLRP11_ENST00000592953.1_Missense_Mutation_p.C693G			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	792							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGGCGCTGCAGCAATTTTCA	0.498													A|||	151	0.0301518	0.1097	0.0086	5008	,	,		19216	0.0		0.0	False		,,,				2504	0.0				p.C792G		Atlas-SNP	.											.	NLRP11	139	.	0			c.T2374G						PASS	.	A	GLY/CYS	357,4049	184.0+/-211.4	11,335,1857	110	102	105		2374	-0.1	0	19	dbSNP_131	105	7,8593	4.3+/-15.6	0,7,4293	yes	missense	NLRP11	NM_145007.3	159	11,342,6150	CC,CA,AA		0.0814,8.1026,2.7987	probably-damaging	792/1034	56303806	364,12642	2203	4300	6503	SO:0001583	missense	204801	exon9			CGCTGCAGCAATT	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2374T>G	19.37:g.56303806A>C	ENSP00000466285:p.Cys792Gly	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	124	62	0.5	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	41	0.018772893772893772	40	0.08130081300813008	1	0.0027624309392265192	0	0.0	0	0.0	A	10.23	1.292437	0.23564	0.081026	8.14E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53423	0.62;0.62	2.18	-0.114	0.13564	.	.	.	.	.	T	0.10637	0.0260	M	0.93062	3.375	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.942;0.974	T	0.24368	-1.0162	9	0.87932	D	0	.	2.8277	0.05490	0.5109:0.3169:0.1722:0.0	.	792;738	P59045;P59045-2	NAL11_HUMAN;.	G	792;738	ENSP00000409898:C792G;ENSP00000353251:C738G	ENSP00000353251:C738G	C	-	1	0	NLRP11	60995618	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.262000	0.18460	-0.089000	0.12484	-0.340000	0.08031	TGC	A|0.976;C|0.024	0.024	strong		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		C	56303806	A	C	56303806	3	2	22	1	0	0	0	0	1	0	0	0	10473	188	7	5	743	5	NLRP11	19	56303806	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	308831	56303806	2825177	10283	15391										
NLRP11	204801	hgsc.bcm.edu	37	chr19	56321517	56321517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttttccagatgctctctcTcccatcaggaacacattgag	7	12	3	2	rs7249635	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56321517T>C	ENST00000589093.1	-	3	552	c.459A>G	c.(457-459)ggA>ggG	p.G153G	NLRP11_ENST00000360133.3_Silent_p.G153G|NLRP11_ENST00000589824.2_Silent_p.G153G|NLRP11_ENST00000443188.1_Silent_p.G153G|NLRP11_ENST00000592953.1_Silent_p.G54G			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	153	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGCTCTCTCTCCCATCAGGA	0.413													T|||	878	0.175319	0.3366	0.0519	5008	,	,		20720	0.2351		0.0517	False		,,,				2504	0.1104				p.G153G		Atlas-SNP	.											.	NLRP11	139	.	0			c.A459G						PASS	.	T		1215,3191	406.6+/-333.9	172,871,1160	81	75	77		459	2.2	0	19	dbSNP_116	77	424,8176	125.1+/-183.8	9,406,3885	no	coding-synonymous	NLRP11	NM_145007.3		181,1277,5045	CC,CT,TT		4.9302,27.576,12.6019		153/1034	56321517	1639,11367	2203	4300	6503	SO:0001819	synonymous_variant	204801	exon5			TCTCTCTCCCATC	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.459A>G	19.37:g.56321517T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	138	138	1	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																			T|0.849;C|0.151	0.151	strong		0.413	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		C	56321517	T	C	56321517	2	2	22	1	0	0	0	0	0	0	0	1	10473	1538	54	3		3	NLRP11	19	56321517	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17711	56321517	2807466	10284	15392										
NLRP4	147945	hgsc.bcm.edu	37	chr19	56369095	56369095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattcagccgcttatggtcCagcaagtctgtcactgagat	9	10	3	1	rs147356242	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56369095C>T	ENST00000301295.6	+	3	758	c.336C>T	c.(334-336)tcC>tcT	p.S112S	NLRP4_ENST00000346986.5_Silent_p.S112S|NLRP4_ENST00000587891.1_Silent_p.S37S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	112					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTTATGGTCCAGCAAGTCTG	0.473													C|||	26	0.00519169	0.0189	0.0014	5008	,	,		19927	0.0		0.0	False		,,,				2504	0.0				p.S112S		Atlas-SNP	.											.	NLRP4	331	.	0			c.C336T						PASS	.	C		58,4348	57.4+/-93.9	0,58,2145	114	106	109		336	2.4	0	19	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	NLRP4	NM_134444.4		0,58,6445	TT,TC,CC		0.0,1.3164,0.4459		112/995	56369095	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	147945	exon3			ATGGTCCAGCAAG	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.336C>T	19.37:g.56369095C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	55	29	0.527273	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			C|0.994;T|0.006	0.006	strong		0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369095	C	T	56369095	2	4	22	1	0	0	0	0	0	0	0	1	10479	581	21	2		2	NLRP4	19	56369095	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47578	56369095	2759888	10285	15393										
NLRP4	147945	hgsc.bcm.edu	37	chr19	56369314	56369314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggataggttcctgtacacGttctatttctgctgcagaga	11	9	2	1	rs16986718	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56369314G>A	ENST00000301295.6	+	3	977	c.555G>A	c.(553-555)acG>acA	p.T185T	NLRP4_ENST00000587891.1_Silent_p.T110T|NLRP4_ENST00000346986.5_Silent_p.T185T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	185	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCCTGTACACGTTCTATTTCT	0.498													A|||	1229	0.245407	0.3222	0.2651	5008	,	,		19870	0.2391		0.2575	False		,,,				2504	0.1217				p.T185T		Atlas-SNP	.											NLRP4_ENST00000301295,colon,carcinoma,0,1	NLRP4	331	1	0			c.G555A						PASS	.	A		1434,2972	466.4+/-354.5	233,968,1002	109	108	108		555	-8.5	0	19	dbSNP_123	108	2243,6357	380.1+/-339.5	291,1661,2348	yes	coding-synonymous	NLRP4	NM_134444.4		524,2629,3350	AA,AG,GG		26.0814,32.5465,28.2716		185/995	56369314	3677,9329	2203	4300	6503	SO:0001819	synonymous_variant	147945	exon3			GTACACGTTCTAT	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.555G>A	19.37:g.56369314G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	182	82	0.450549	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			G|0.718;A|0.281	0.281	strong		0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56369314	G	A	56369314	2	1	22	1	0	0	0	0	0	0	0	1	10479	1132	40	1		1	NLRP4	19	56369314	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219	56369314	2759669	10286	15394										
NLRP4	147945	hgsc.bcm.edu	37	chr19	56369668	56369668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taccagccccggggattcaaCgagagtgataggttagtgta	13	8	1	2	rs112565033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56369668C>T	ENST00000301295.6	+	3	1331	c.909C>T	c.(907-909)aaC>aaT	p.N303N	NLRP4_ENST00000346986.5_Silent_p.N303N|NLRP4_ENST00000587891.1_Silent_p.N228N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	303	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGGATTCAACGAGAGTGATA	0.507													C|||	26	0.00519169	0.0189	0.0014	5008	,	,		18203	0.0		0.0	False		,,,				2504	0.0				p.N303N		Atlas-SNP	.											.	NLRP4	331	.	0			c.C909T						PASS	.	C		56,4350	56.2+/-92.4	0,56,2147	73	78	76		909	-8.2	0	19	dbSNP_132	76	0,8600		0,0,4300	yes	coding-synonymous	NLRP4	NM_134444.4		0,56,6447	TT,TC,CC		0.0,1.271,0.4306		303/995	56369668	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	147945	exon3			ATTCAACGAGAGT	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.909C>T	19.37:g.56369668C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	143	78	0.545455	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			C|0.994;T|0.006	0.006	strong		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369668	C	T	56369668	2	4	22	1	0	0	0	0	0	0	0	1	10479	535	19	1		1	NLRP4	19	56369668	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	354	56369668	2759315	10287	15395										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56413532	56413532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaggagagcatctgacaaGtgcttgcaagcgggtgctgc	15	9	1	2	rs7258847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56413532G>A	ENST00000342929.3	-	9	2657	c.2658C>T	c.(2656-2658)caC>caT	p.H886H	NLRP13_ENST00000588751.1_Silent_p.H886H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	886							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATCTGACAAGTGCTTGCAAG	0.582													G|||	744	0.148562	0.0287	0.1787	5008	,	,		15155	0.0456		0.2803	False		,,,				2504	0.2597				p.H886H		Atlas-SNP	.											.	NLRP13	220	.	0			c.C2658T						PASS	.	G		289,4117	161.1+/-193.3	8,273,1922	91	69	77		2658	1.5	0	19	dbSNP_116	77	2291,6309	386.3+/-341.8	337,1617,2346	no	coding-synonymous	NLRP13	NM_176810.2		345,1890,4268	AA,AG,GG		26.6395,6.5592,19.837		886/1044	56413532	2580,10426	2203	4300	6503	SO:0001819	synonymous_variant	126204	exon9			TGACAAGTGCTTG	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2658C>T	19.37:g.56413532G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	73	30	0.410959	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			G|0.824;A|0.176	0.176	strong		0.582	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56413532	G	A	56413532	2	1	22	1	0	0	0	0	0	0	0	1	10475	1020	36	2		2	NLRP13	19	56413532	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	43864	56413532	2715451	10288	15396										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56443519	56443519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtttgcccaggggatacgCgggaagtgcccctggggggc	18	10	0	0	rs12610617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56443519C>T	ENST00000342929.3	-	1	158	c.159G>A	c.(157-159)ccG>ccA	p.P53P	NLRP13_ENST00000588751.1_Silent_p.P53P	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	53	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGGGATACGCGGGAAGTGCC	0.552													C|||	497	0.0992412	0.1157	0.0447	5008	,	,		18654	0.2609		0.0109	False		,,,				2504	0.0399				p.P53P		Atlas-SNP	.											NLRP13,colon,carcinoma,-1,1	NLRP13	220	1	0			c.G159A						PASS	.	C		391,4015	193.0+/-218.2	16,359,1828	57	60	59		159	-1.8	0	19	dbSNP_120	59	78,8522	43.6+/-101.6	0,78,4222	no	coding-synonymous	NLRP13	NM_176810.2		16,437,6050	TT,TC,CC		0.907,8.8743,3.606		53/1044	56443519	469,12537	2203	4300	6503	SO:0001819	synonymous_variant	126204	exon1			GATACGCGGGAAG	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.159G>A	19.37:g.56443519C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	91	43	0.472527	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			C|0.928;T|0.072	0.072	strong		0.552	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		T	56443519	C	T	56443519	2	4	22	1	0	0	0	0	0	0	0	1	10475	755	27	1		1	NLRP13	19	56443519	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29987	56443519	2685464	10289	15397										
NLRP8	126205	hgsc.bcm.edu	37	chr19	56459342	56459342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cactcacagttctcatattcCgccctggacattctcttgct	5	15	3	0	rs306507	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56459342C>T	ENST00000291971.3	+	1	145	c.74C>T	c.(73-75)cCg>cTg	p.P25L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P25L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	25			P -> L (in dbSNP:rs306507).		neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCATATTCCGCCCTGGACA	0.517													C|||	3612	0.721246	0.7307	0.7565	5008	,	,		15783	0.8115		0.5984	False		,,,				2504	0.7168				p.P25L		Atlas-SNP	.											.	NLRP8	225	.	0			c.C74T						PASS	.	C	LEU/PRO	3141,1265	702.5+/-406.9	1125,891,187	203	159	174		74	0.8	0	19	dbSNP_79	174	5025,3575	628.9+/-398.2	1474,2077,749	yes	missense	NLRP8	NM_176811.2	98	2599,2968,936	TT,TC,CC		41.5698,28.7108,37.2136	possibly-damaging	25/1049	56459342	8166,4840	2203	4300	6503	SO:0001583	missense	126205	exon1			ATATTCCGCCCTG	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.74C>T	19.37:g.56459342C>T	ENSP00000291971:p.Pro25Leu	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	128	127	0.992188	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	1561	0.7147435897435898	359	0.7296747967479674	261	0.7209944751381215	475	0.8304195804195804	466	0.6147757255936676	C	6.905	0.536617	0.13188	0.712892	0.584302	ENSG00000179709	ENST00000291971	T	0.73681	-0.77	1.85	0.802	0.18686	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;B	0.42961	0.795;0.026	B;B	0.31245	0.126;0.002	T	0.48456	-0.9034	8	0.07990	T	0.79	.	4.3068	0.10951	0.0:0.7926:0.0:0.2074	rs306507;rs17712414;rs52789350;rs60413112;rs306507	25;25	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	25	ENSP00000291971:P25L	ENSP00000291971:P25L	P	+	2	0	NLRP8	61151154	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.441000	0.06879	0.358000	0.24211	-0.351000	0.07748	CCG	C|0.326;T|0.674	0.674	strong		0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56459342	C	T	56459342	3	4	22	1	0	0	0	0	1	0	0	0	10483	652	23	1	76	1	NLRP8	19	56459342	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15823	56459342	2669641	10290	15398										
NLRP8	126205	hgsc.bcm.edu	37	chr19	56459614	56459614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgtgataaaatgtgtgttGtagtccgcagagagataaat	11	4	0	3	rs306506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56459614G>C	ENST00000291971.3	+	1	417	c.346G>C	c.(346-348)Gta>Cta	p.V116L	NLRP8_ENST00000590542.1_Missense_Mutation_p.V116L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	116	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		V -> L (in dbSNP:rs306506).		neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATGTGTGTTGTAGTCCGCAG	0.488													C|||	3640	0.726837	0.7504	0.7579	5008	,	,		16948	0.8135		0.5974	False		,,,				2504	0.7168				p.V116L		Atlas-SNP	.											.	NLRP8	225	.	0			c.G346C						PASS	.	C	LEU/VAL	3214,1192	417.6+/-338.0	1172,870,161	98	96	97		346	1.2	0	19	dbSNP_79	97	5021,3579	518.2+/-379.2	1470,2081,749	yes	missense	NLRP8	NM_176811.2	32	2642,2951,910	CC,CG,GG		41.6163,27.054,36.6831	benign	116/1049	56459614	8235,4771	2203	4300	6503	SO:0001583	missense	126205	exon1			TGTGTTGTAGTCC	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.346G>C	19.37:g.56459614G>C	ENSP00000291971:p.Val116Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	1565	0.7165750915750916	364	0.7398373983739838	262	0.7237569060773481	475	0.8304195804195804	464	0.6121372031662269	C	0.027	-1.363830	0.01235	0.72946	0.583837	ENSG00000179709	ENST00000291971	T	0.57436	0.4	2.23	1.19	0.21007	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.20605	-1.0270	8	0.30854	T	0.27	.	3.5601	0.07878	0.0:0.5745:0.2653:0.1602	rs306506;rs17644766;rs52815843;rs60294832;rs306506	116;116	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	116	ENSP00000291971:V116L	ENSP00000291971:V116L	V	+	1	0	NLRP8	61151426	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.463000	0.06696	0.092000	0.17331	-0.281000	0.10026	GTA	G|0.334;C|0.665	0.665	strong		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		C	56459614	G	C	56459614	3	2	22	1	0	0	0	0	1	0	0	0	10483	1377	48	4	348	4	NLRP8	19	56459614	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	272	56459614	2669369	10291	15399										
NLRP8	126205	hgsc.bcm.edu	37	chr19	56477710	56477710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgaagcttctatgcagggTgctgagatccccccggtgcc	13	12	1	2	rs306496	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56477710T>C	ENST00000291971.3	+	5	2416	c.2345T>C	c.(2344-2346)gTg>gCg	p.V782A	NLRP8_ENST00000590542.1_Missense_Mutation_p.V782A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	782			V -> A (in dbSNP:rs306496).		neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTATGCAGGGTGCTGAGATCC	0.537													C|||	3298	0.658546	0.7746	0.6326	5008	,	,		17458	0.6885		0.5239	False		,,,				2504	0.6278				p.V782A		Atlas-SNP	.											.	NLRP8	225	.	0			c.T2345C						PASS	.	C	ALA/VAL	3302,1104	399.2+/-331.1	1248,806,149	120	114	116		2345	1.8	0	19	dbSNP_79	116	4412,4188	569.8+/-389.3	1142,2128,1030	yes	missense	NLRP8	NM_176811.2	64	2390,2934,1179	CC,CT,TT		48.6977,25.0567,40.6889	benign	782/1049	56477710	7714,5292	2203	4300	6503	SO:0001583	missense	126205	exon5			GCAGGGTGCTGAG	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2345T>C	19.37:g.56477710T>C	ENSP00000291971:p.Val782Ala	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	128	128	1	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	1391	0.6369047619047619	377	0.766260162601626	226	0.6243093922651933	392	0.6853146853146853	396	0.5224274406332454	C	0.009	-1.838815	0.00573	0.749433	0.513023	ENSG00000179709	ENST00000291971	T	0.50001	0.76	1.82	1.82	0.25136	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41161	-0.9524	8	0.02654	T	1	.	4.4907	0.11812	0.0:0.8003:0.0:0.1997	rs306496;rs52822657;rs59914054;rs306496	782;782	Q86W28-2;Q86W28	.;NALP8_HUMAN	A	782	ENSP00000291971:V782A	ENSP00000291971:V782A	V	+	2	0	NLRP8	61169522	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.242000	0.18087	0.325000	0.23359	-0.226000	0.12346	GTG	T|0.382;C|0.618	0.618	strong		0.537	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		C	56477710	T	C	56477710	3	2	22	1	0	0	0	0	1	0	0	0	10483	1696	59	2	2363	2	NLRP8	19	56477710	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	18096	56477710	2651273	10292	15400										
ZNF444	55311	hgsc.bcm.edu	37	chr19	56669889	56669889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagcctcccccgatgggtcGtcagcaacgagggtgcctca	13	15	2	0	rs61736530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56669889G>A	ENST00000337080.3	+	4	691	c.324G>A	c.(322-324)tcG>tcA	p.S108S	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Silent_p.S108S	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	108					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CCGATGGGTCGTCAGCAACGA	0.597													g|||	64	0.0127796	0.0461	0.0014	5008	,	,		17153	0.001		0.001	False		,,,				2504	0.0				p.S108S		Atlas-SNP	.											.	ZNF444	15	.	0			c.G324A						PASS	.	A		220,4186	131.8+/-168.3	3,214,1986	74	64	68		324	-5.4	0	19	dbSNP_129	68	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	ZNF444	NM_018337.2		3,216,6284	AA,AG,GG		0.0233,4.9932,1.7069		108/328	56669889	222,12784	2203	4300	6503	SO:0001819	synonymous_variant	55311	exon4			TGGGTCGTCAGCA	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.324G>A	19.37:g.56669889G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	214	214	1	NM_001253792	Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	ENST00000337080.3	37	CCDS12939.1																																																																																			G|0.981;A|0.019	0.019	strong		0.597	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		A	56669889	G	A	56669889	2	1	22	1	0	0	0	0	0	0	0	1	17914	1132	40	1		1	ZNF444	19	56669889	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	192179	56669889	2459094	10293	15401										
ZNF444	55311	hgsc.bcm.edu	37	chr19	56671359	56671359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgcgagtgtggcaagaCcttctactggcgcgagcacc	14	12	1	1	rs145075834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56671359C>G	ENST00000337080.3	+	5	1140	c.773C>G	c.(772-774)aCc>aGc	p.T258S	ZNF444_ENST00000592949.1_Missense_Mutation_p.T257S	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	258					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGTGGCAAGACCTTCTACTGG	0.746													C|||	62	0.0123802	0.0461	0.0014	5008	,	,		9131	0.0		0.0	False		,,,				2504	0.0				p.T258S		Atlas-SNP	.											.	ZNF444	15	.	0			c.C773G						PASS	.	C	SER/THR	95,3577		0,95,1741	3	2	3		773	3.4	1	19	dbSNP_134	3	0,7290		0,0,3645	yes	missense	ZNF444	NM_018337.2	58	0,95,5386	GG,GC,CC		0.0,2.5871,0.8666	probably-damaging	258/328	56671359	95,10867	1836	3645	5481	SO:0001583	missense	55311	exon5			GCAAGACCTTCTA	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.773C>G	19.37:g.56671359C>G	ENSP00000338860:p.Thr258Ser	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_018337	Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	CCDS12939.1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	C	13.37	2.215791	0.39102	0.025871	0.0	ENSG00000167685	ENST00000337080	T	0.27402	1.67	3.43	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.203463	0.24681	N	0.036467	T	0.01454	0.0047	N	0.01473	-0.845	0.24823	N	0.992574	B;P	0.48089	0.106;0.905	B;P	0.47118	0.047;0.538	T	0.07986	-1.0744	10	0.21540	T	0.41	.	12.7548	0.57328	0.0:1.0:0.0:0.0	.	257;258	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	S	258	ENSP00000338860:T258S	ENSP00000338860:T258S	T	+	2	0	ZNF444	61363171	0.072000	0.21174	1.000000	0.80357	0.965000	0.64279	0.403000	0.20982	1.938000	0.56188	0.455000	0.32223	ACC	C|0.987;G|0.013	0.013	strong		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		G	56671359	C	G	56671359	3	3	22	1	0	0	0	0	1	0	0	0	17914	507	18	4	783	4	ZNF444	19	56671359	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1470	56671359	2457624	10294	15402										
ZSCAN5B	342933	hgsc.bcm.edu	37	chr19	56702323	56702323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtttgggtcacctgttaCgtcaatactcttgtgtagca	10	8	3	1	rs4801296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56702323C>T	ENST00000586855.2	-	4	935	c.622G>A	c.(622-624)Gta>Ata	p.V208I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V208I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	208			V -> I (in dbSNP:rs4801296).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCACCTGTTACGTCAATACTC	0.502													C|||	2419	0.483027	0.739	0.4294	5008	,	,		19896	0.4067		0.3767	False		,,,				2504	0.363				p.V208I		Atlas-SNP	.											.	ZSCAN5B	160	.	0			c.G622A						PASS	.	C	ILE/VAL	3010,1396	458.4+/-352.0	1025,960,218	159	146	150		622	-2.6	0	19	dbSNP_111	150	3149,5451	655.7+/-401.3	569,2011,1720	no	missense	ZSCAN5B	NM_001080456.2	29	1594,2971,1938	TT,TC,CC		36.6163,31.6841,47.3551	benign	208/496	56702323	6159,6847	2203	4300	6503	SO:0001583	missense	342933	exon3			CTGTTACGTCAAT		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.622G>A	19.37:g.56702323C>T	ENSP00000466072:p.Val208Ile	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	302	300	0.993378	NM_001080456		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	1015	0.46474358974358976	352	0.7154471544715447	148	0.4088397790055249	225	0.39335664335664333	290	0.38258575197889183	T	1.338	-0.594838	0.03771	0.683159	0.366163	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.3	-2.6	0.06190	.	.	.	.	.	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16571	-1.0398	8	0.31617	T	0.26	.	4.4466	0.11600	0.0:0.4858:0.2045:0.3096	rs4801296;rs4801296	208	A6NJL1	ZSA5B_HUMAN	I	208	ENSP00000351883:V208I	ENSP00000351883:V208I	V	-	1	0	ZSCAN5B	61394135	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.563000	0.05943	-2.131000	0.00815	-1.028000	0.02416	GTA	C|0.531;T|0.469	0.469	strong		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		T	56702323	C	T	56702323	3	4	22	1	0	0	0	0	1	0	0	0	18236	536	19	1	873	1	ZSCAN5B	19	56702323	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30964	56702323	2426660	10295	15403										
ZNF582	147948	hgsc.bcm.edu	37	chr19	56901457	56901457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcacatcaggtttggaaaCggcaagacctggagatgaga	13	7	2	3	rs61743722	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56901457C>T	ENST00000301310.4	-	4	303	c.145G>A	c.(145-147)Gtt>Att	p.V49I	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.V49I	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|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)		GGTTTGGAAACGGCAAGACCT	0.542													C|||	133	0.0265575	0.093	0.0144	5008	,	,		17157	0.0		0.0	False		,,,				2504	0.0				p.V49I	Ovarian(183;1887 2032 4349 30507 51343)	Atlas-SNP	.											.	ZNF582	56	.	0			c.G145A						PASS	.	C	ILE/VAL	389,4017	196.7+/-221.0	18,353,1832	91	86	88		145	-9.4	0	19	dbSNP_129	88	2,8598		0,2,4298	yes	missense	ZNF582	NM_144690.1	29	18,355,6130	TT,TC,CC		0.0233,8.8289,3.0063	benign	49/518	56901457	391,12615	2203	4300	6503	SO:0001583	missense	147948	exon4			TGGAAACGGCAAG	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.145G>A	19.37:g.56901457C>T	ENSP00000301310:p.Val49Ile	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	52	0.023809523809523808	46	0.09349593495934959	6	0.016574585635359115	0	0.0	0	0.0	C	6.754	0.507989	0.12883	0.088289	2.33E-4	ENSG00000018869	ENST00000301310	T	0.00808	5.67	4.82	-9.39	0.00619	Krueppel-associated box (3);	.	.	.	.	T	0.00039	0.0001	N	0.05012	-0.13	0.28889	N	0.893944	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47459	-0.9116	9	0.06757	T	0.87	.	15.7899	0.78345	0.1051:0.7097:0.0:0.1853	.	49;80	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	49	ENSP00000301310:V49I	ENSP00000301310:V49I	V	-	1	0	ZNF582	61593269	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	-3.092000	0.00608	-2.299000	0.00659	-0.238000	0.12139	GTT	C|0.972;T|0.028	0.028	strong		0.542	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		T	56901457	C	T	56901457	3	4	22	1	0	0	0	0	1	0	0	0	18011	536	19	1	1416	1	ZNF582	19	56901457	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199134	56901457	2227526	10296	15404										
ZNF667	63934	hgsc.bcm.edu	37	chr19	56952615	56952615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccacatttactacattcAtagggtttctctgaagaatg	6	9	2	2	rs61740673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:56952615A>G	ENST00000504904.3	-	7	2468	c.1749T>C	c.(1747-1749)taT>taC	p.Y583Y	ZNF667_ENST00000342634.3_Silent_p.Y711Y|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.Y583Y			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TACTACATTCATAGGGTTTCT	0.398													A|||	158	0.0315495	0.0961	0.0159	5008	,	,		20645	0.0		0.0159	False		,,,				2504	0.0041				p.Y583Y		Atlas-SNP	.											ZNF667,NS,NS,-2,1	ZNF667	95	1	0			c.T1749C						PASS	.	A		393,4013	197.7+/-221.8	16,361,1826	120	115	117		1749	-0.7	0.4	19	dbSNP_129	117	96,8504	53.1+/-113.8	0,96,4204	no	coding-synonymous	ZNF667	NM_022103.3		16,457,6030	GG,GA,AA		1.1163,8.9197,3.7598		583/611	56952615	489,12517	2203	4300	6503	SO:0001819	synonymous_variant	63934	exon5			ACATTCATAGGGT		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1749T>C	19.37:g.56952615A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	94	40	0.425532	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																			A|0.965;G|0.035	0.035	strong		0.398	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		G	56952615	A	G	56952615	2	3	22	1	0	0	0	0	0	0	0	1	18071	224	8	2		2	ZNF667	19	56952615	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51158	56952615	2176368	10297	15405										
ZNF471	57573	hgsc.bcm.edu	37	chr19	57036012	57036012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttctccaaaaattctatGgtaataaaacacaagaaagt	5	7	2	1	rs11667052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57036012G>T	ENST00000308031.5	+	5	709	c.576G>T	c.(574-576)atG>atT	p.M192I	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	192			M -> I (in dbSNP:rs11667052). {ECO:0000269|PubMed:10718198}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAATTCTATGGTAATAAAAC	0.299													G|||	920	0.183706	0.2337	0.1398	5008	,	,		18537	0.0526		0.2813	False		,,,				2504	0.182				p.M192I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Atlas-SNP	.											.	ZNF471	99	.	0			c.G576T						PASS	.	G	ILE/MET	1006,3392		119,768,1312	26	28	27		576	1.7	0	19	dbSNP_120	27	2159,6419		308,1543,2438	yes	missense	ZNF471	NM_020813.2	10	427,2311,3750	TT,TG,GG		25.169,22.874,24.3912	benign	192/627	57036012	3165,9811	2199	4289	6488	SO:0001583	missense	57573	exon5			TTCTATGGTAATA	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.576G>T	19.37:g.57036012G>T	ENSP00000309161:p.Met192Ile	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	55	30	0.545455	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	428	0.19597069597069597	120	0.24390243902439024	59	0.16298342541436464	34	0.05944055944055944	215	0.2836411609498681	G	1.290	-0.607754	0.03717	0.22874	0.25169	ENSG00000196263	ENST00000308031	T	0.14516	2.5	3.87	1.71	0.24356	.	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46205	-0.9208	8	0.23302	T	0.38	.	6.9352	0.24463	0.3009:0.0:0.6991:0.0	rs11667052;rs52814044;rs58037293;rs11667052	192	Q9BX82	ZN471_HUMAN	I	192	ENSP00000309161:M192I	ENSP00000309161:M192I	M	+	3	0	ZNF471	61727824	.	.	0.001000	0.08648	0.789000	0.44602	.	.	0.427000	0.26145	-0.253000	0.11424	ATG	G|0.792;T|0.208	0.208	strong		0.299	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		T	57036012	G	T	57036012	3	4	22	1	0	0	0	0	1	0	0	0	17927	1348	47	4	590	4	ZNF471	19	57036012	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	83397	57036012	2092971	10298	15406										
ZFP28	140612	hgsc.bcm.edu	37	chr19	57050521	57050521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggccctccctgcccgggGaaggccgcgctcaaggaatg	14	15	1	0	rs199655023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57050521G>A	ENST00000301318.3	+	1	205	c.134G>A	c.(133-135)gGa>gAa	p.G45E	ZFP28_ENST00000594386.1_3'UTR|ZFP28_ENST00000591844.1_Missense_Mutation_p.G45E|AC005498.3_ENST00000593218.1_lincRNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTGCCCGGGGAAGGCCGCGC	0.726													G|||	19	0.00379393	0.0144	0.0	5008	,	,		8689	0.0		0.0	False		,,,				2504	0.0				p.G45E	Ovarian(124;554 1662 19430 21141 52494)	Atlas-SNP	.											.	ZFP28	99	.	0			c.G134A						PASS	.	G	GLU/GLY	32,4078		0,32,2023	6	8	7		134	2.7	1	19		7	2,8204		0,2,4101	yes	missense	ZFP28	NM_020828.1	98	0,34,6124	AA,AG,GG		0.0244,0.7786,0.2761	probably-damaging	45/869	57050521	34,12282	2055	4103	6158	SO:0001583	missense	140612	exon1			CCCGGGGAAGGCC		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.134G>A	19.37:g.57050521G>A	ENSP00000301318:p.Gly45Glu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650497	0.47362	0.007786	2.44E-4	ENSG00000196867	ENST00000301318	T	0.05717	3.4	2.74	2.74	0.32292	.	0.000000	0.31301	U	0.007892	T	0.06280	0.0162	N	0.24115	0.695	0.34331	D	0.687738	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.11227	-1.0596	10	0.06757	T	0.87	.	9.1377	0.36883	0.0:0.0:1.0:0.0	.	45;45	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	E	45	ENSP00000301318:G45E	ENSP00000301318:G45E	G	+	2	0	ZFP28	61742333	0.909000	0.30893	0.986000	0.45419	0.823000	0.46562	0.683000	0.25349	1.817000	0.53016	0.462000	0.41574	GGA	.	.	weak		0.726	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57050521	G	A	57050521	3	1	22	1	0	0	0	0	1	0	0	0	17639	1174	41	2	136	2	ZFP28	19	57050521	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14509	57050521	2078462	10299	15407										
ZFP28	140612	hgsc.bcm.edu	37	chr19	57066013	57066013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagaagccttttgaatgtgCggagtgtggaaaatccttca	13	6	1	2	rs10409531	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57066013C>T	ENST00000301318.3	+	8	1930	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	620			A -> V (in dbSNP:rs10409531).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A620V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTTGAATGTGCGGAGTGTGGA	0.428													C|||	2048	0.408946	0.5953	0.304	5008	,	,		20994	0.2986		0.3509	False		,,,				2504	0.4049				p.A620V	Ovarian(124;554 1662 19430 21141 52494)	Atlas-SNP	.											ZFP28,NS,carcinoma,0,1	ZFP28	99	1	1	Substitution - Missense(1)	stomach(1)	c.C1859T						PASS	.	C	VAL/ALA	2432,1974	616.5+/-392.8	666,1100,437	97	107	103		1859	0.9	1	19	dbSNP_119	103	2867,5733	449.6+/-362.1	497,1873,1930	yes	missense	ZFP28	NM_020828.1	64	1163,2973,2367	TT,TC,CC		33.3372,44.8025,40.7427	benign	620/869	57066013	5299,7707	2203	4300	6503	SO:0001583	missense	140612	exon8			AATGTGCGGAGTG		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1859C>T	19.37:g.57066013C>T	ENSP00000301318:p.Ala620Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	132	131	0.992424	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	818	0.37454212454212454	284	0.5772357723577236	112	0.30939226519337015	160	0.27972027972027974	262	0.34564643799472294	C	11.19	1.566773	0.28003	0.551975	0.333372	ENSG00000196867	ENST00000301318	T	0.07688	3.17	4.23	0.896	0.19253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.303860	0.23997	N	0.042507	T	0.00012	0.0000	N	0.17872	0.535	0.58432	P	4.000000000004E-6	B	0.29909	0.261	B	0.31614	0.133	T	0.26430	-1.0103	9	0.44086	T	0.13	.	6.5728	0.22549	0.1344:0.5349:0.3307:0.0	rs10409531;rs17305444;rs52820939;rs56805806;rs10409531	620	Q8NHY6	ZFP28_HUMAN	V	620	ENSP00000301318:A620V	ENSP00000301318:A620V	A	+	2	0	ZFP28	61757825	0.000000	0.05858	0.988000	0.46212	0.984000	0.73092	-1.939000	0.01545	0.536000	0.28733	-0.235000	0.12190	GCG	C|0.594;T|0.406	0.406	strong		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		T	57066013	C	T	57066013	3	4	22	1	0	0	0	0	1	0	0	0	17639	768	27	1	1889	1	ZFP28	19	57066013	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15492	57066013	2062970	10300	15408										
ZNF470	388566	hgsc.bcm.edu	37	chr19	57085769	57085769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtgtcattttagggttcaGtgactttcacagatgtggcc	11	7	3	2	rs10421285	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57085769G>C	ENST00000330619.8	+	4	753	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	ZNF470_ENST00000391709.3_Missense_Mutation_p.V23L|ZNF470_ENST00000601902.1_Missense_Mutation_p.V23L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		V -> L (in dbSNP:rs10421285). {ECO:0000269|PubMed:15302581}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V23L(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTAGGGTTCAGTGACTTTCAC	0.403													G|||	2123	0.423922	0.6657	0.3357	5008	,	,		20025	0.2788		0.3698	False		,,,				2504	0.365				p.V23L		Atlas-SNP	.											ZNF470,NS,carcinoma,0,1	ZNF470	103	1	1	Substitution - Missense(1)	stomach(1)	c.G67C						PASS	.	G	LEU/VAL	2705,1701	652.9+/-399.5	827,1051,325	182	166	171		67	-3.1	0	19	dbSNP_119	171	3139,5461	478.2+/-369.8	605,1929,1766	yes	missense	ZNF470	NM_001001668.3	32	1432,2980,2091	CC,CG,GG		36.5,38.6064,44.9331	benign	23/718	57085769	5844,7162	2203	4300	6503	SO:0001583	missense	388566	exon4			GGTTCAGTGACTT	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.67G>C	19.37:g.57085769G>C	ENSP00000333223:p.Val23Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	126	126	1	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	867	0.39697802197802196	317	0.6443089430894309	127	0.35082872928176795	147	0.256993006993007	276	0.3641160949868074	G	7.600	0.672565	0.14776	0.613936	0.365	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.04862	3.54;3.54	3.58	-3.06	0.05379	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	L	0.53671	1.685	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31364	-0.9946	8	0.21540	T	0.41	.	4.4059	0.11409	0.4026:0.3162:0.2812:0.0	rs10421285;rs56621387;rs10421285	23	Q6ECI4	ZN470_HUMAN	L	23	ENSP00000375590:V23L;ENSP00000333223:V23L	ENSP00000333223:V23L	V	+	1	0	ZNF470	61777581	0.661000	0.27430	0.034000	0.17996	0.830000	0.47004	0.740000	0.26188	-0.621000	0.05633	-0.182000	0.12963	GTG	G|0.566;C|0.434	0.434	strong		0.403	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		C	57085769	G	C	57085769	3	2	22	1	0	0	0	0	1	0	0	0	17926	1029	36	4	73	4	ZNF470	19	57085769	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19756	57085769	2043214	10301	15409										
ZNF71	58491	hgsc.bcm.edu	37	chr19	57132879	57132879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggggctcagtacccgcatGtcatgaactgaaggcatttg	13	9	2	2	rs79950845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57132879G>A	ENST00000328070.6	+	3	458	c.224G>A	c.(223-225)tGt>tAt	p.C75Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	75					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(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTACCCGCATGTCATGAACTG	0.622													G|||	99	0.0197684	0.0741	0.0014	5008	,	,		17597	0.0		0.0	False		,,,				2504	0.0				p.C75Y		Atlas-SNP	.											.	ZNF71	69	.	0			c.G224A						PASS	.	G	TYR/CYS	263,4143	149.5+/-183.7	5,253,1945	57	54	55		224	2.9	0	19	dbSNP_131	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF71	NM_021216.4	194	5,254,6244	AA,AG,GG		0.0116,5.9691,2.0298	possibly-damaging	75/490	57132879	264,12742	2203	4300	6503	SO:0001583	missense	58491	exon3			CCGCATGTCATGA	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.224G>A	19.37:g.57132879G>A	ENSP00000328245:p.Cys75Tyr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	43	0.558442	NM_021216	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	CCDS12947.1	39	0.017857142857142856	38	0.07723577235772358	1	0.0027624309392265192	0	0.0	0	0.0	G	13.10	2.134948	0.37728	0.059691	1.16E-4	ENSG00000197951	ENST00000328070	T	0.07114	3.22	2.91	2.91	0.33838	.	.	.	.	.	T	0.00815	0.0027	M	0.91249	3.19	0.09310	N	1	B	0.26318	0.146	B	0.22753	0.041	T	0.04203	-1.0969	9	0.62326	D	0.03	.	9.5203	0.39131	0.0:0.0:1.0:0.0	.	75	Q9NQZ8	ZNF71_HUMAN	Y	75	ENSP00000328245:C75Y	ENSP00000328245:C75Y	C	+	2	0	ZNF71	61824691	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	0.648000	0.24828	1.942000	0.56320	0.561000	0.74099	TGT	G|0.976;A|0.024	0.024	strong		0.622	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		A	57132879	G	A	57132879	3	1	22	1	0	0	0	0	1	0	0	0	18111	1377	48	2	226	2	ZNF71	19	57132879	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47110	57132879	1996104	10302	15410										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57175121	57175121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgcggaggagaagctgaaGgccttcccgcagccgctgca	15	13	0	2	rs115625349	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57175121G>A	ENST00000537055.2	-	2	1677	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	482					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAAGCTGAAGGCCTTCCCGC	0.642													.|||	408	0.0814696	0.233	0.0346	5008	,	,		16940	0.0258		0.0099	False		,,,				2504	0.0409				p.A482A		Atlas-SNP	.											.	ZNF835	106	.	0			c.C1446T						PASS	.	G		929,3477	333.6+/-303.0	99,731,1373	123	137	133		1446	1.9	1	19	dbSNP_132	133	164,8436	76.6+/-139.3	1,162,4137	no	coding-synonymous	ZNF835	NM_001005850.2		100,893,5510	AA,AG,GG		1.907,21.0849,8.4038		482/538	57175121	1093,11913	2203	4300	6503	SO:0001819	synonymous_variant	90485	exon2			GCTGAAGGCCTTC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1446C>T	19.37:g.57175121G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	137	61	0.445255	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			G|0.942;A|0.058	0.058	strong		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		A	57175121	G	A	57175121	2	1	22	1	0	0	0	0	0	0	0	1	18183	987	35	2		2	ZNF835	19	57175121	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42242	57175121	1953862	10303	15411										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57175484	57175484	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcagtcgtggcaggggtaAggccgctctccggtgtgcgt	17	12	1	0	rs7250003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57175484A>G	ENST00000537055.2	-	2	1314	c.1083T>C	c.(1081-1083)ccT>ccC	p.P361P		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P383P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCAGGGGTAAGGCCGCTCTC	0.682													.|||	2374	0.474042	0.6679	0.4078	5008	,	,		16463	0.4732		0.3151	False		,,,				2504	0.4233				p.P361P		Atlas-SNP	.											ZNF835,NS,carcinoma,0,2	ZNF835	106	2	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.T1083C						PASS	.	G		2885,1519		962,961,279	21	21	21		1083	-2	0	19	dbSNP_116	21	2566,6026		394,1778,2124	no	coding-synonymous	ZNF835	NM_001005850.2		1356,2739,2403	GG,GA,AA		29.865,34.4914,41.9437		361/538	57175484	5451,7545	2202	4296	6498	SO:0001819	synonymous_variant	90485	exon2			GGGGTAAGGCCGC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1083T>C	19.37:g.57175484A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			A|0.575;G|0.425	0.425	strong		0.682	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57175484	A	G	57175484	2	3	22	1	0	0	0	0	0	0	0	1	18183	59	3	3		3	ZNF835	19	57175484	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	363	57175484	1953499	10304	15412										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176198	57176198	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctggtgtaagatgaacgcTgaacagtagctgaaggcctt	12	8	1	4	rs8108756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57176198T>G	ENST00000537055.2	-	2	600	c.369A>C	c.(367-369)tcA>tcC	p.S123S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	123					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGATGAACGCTGAACAGTAGC	0.627													.|||	2330	0.465256	0.6377	0.4078	5008	,	,		14934	0.4692		0.3131	False		,,,				2504	0.4254				p.S123S		Atlas-SNP	.											.	ZNF835	106	.	0			c.A369C						PASS	.	G		2827,1579	461.1+/-352.8	919,989,295	73	86	82		369	-5.6	0	19	dbSNP_116	82	2609,5991	675.7+/-403.2	396,1817,2087	no	coding-synonymous	ZNF835	NM_001005850.2		1315,2806,2382	GG,GT,TT		30.3372,35.8375,41.7961		123/538	57176198	5436,7570	2203	4300	6503	SO:0001819	synonymous_variant	90485	exon2			GAACGCTGAACAG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.369A>C	19.37:g.57176198T>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	82	40	0.487805	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			T|0.587;G|0.413	0.413	strong		0.627	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57176198	T	G	57176198	2	3	22	1	0	0	0	0	0	0	0	1	18183	1567	55	5		5	ZNF835	19	57176198	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	714	57176198	1952785	10305	15413										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176304	57176304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcctctccttcgggctcTccccaggcgcgctgcacctc	10	19	2	0	rs12460400	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57176304T>G	ENST00000537055.2	-	2	494	c.263A>C	c.(262-264)gAg>gCg	p.E88A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	88			E -> A (in dbSNP:rs12460400). {ECO:0000269|PubMed:14702039}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCGGGCTCTCCCCAGGCGC	0.637													.|||	2007	0.400759	0.4123	0.3732	5008	,	,		15470	0.4702		0.3121	False		,,,				2504	0.4243				p.E88A		Atlas-SNP	.											.	ZNF835	106	.	0			c.A263C						PASS	.	T	ALA/GLU	1630,2550		347,936,807	54	59	57		263	-1	0	19	dbSNP_120	57	2524,5938		380,1764,2087	no	missense	ZNF835	NM_001005850.2	107	727,2700,2894	GG,GT,TT		29.8275,38.9952,32.8587	benign	88/538	57176304	4154,8488	2090	4231	6321	SO:0001583	missense	90485	exon2			GGGCTCTCCCCAG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.263A>C	19.37:g.57176304T>G	ENSP00000444747:p.Glu88Ala	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	101	40	0.39604	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	847	0.38782051282051283	215	0.4369918699186992	127	0.35082872928176795	264	0.46153846153846156	241	0.3179419525065963	T	6.640	0.486634	0.12641	0.389952	0.298275	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06849	3.25	2.58	-1.04	0.10068	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.11235	0.004	B	0.12837	0.008	T	0.44605	-0.9317	8	0.72032	D	0.01	.	2.9659	0.05908	0.0:0.2978:0.2397:0.4625	rs12460400	110	Q9Y2P0	ZN835_HUMAN	A	110;88	ENSP00000444747:E88A	ENSP00000341756:E110A	E	-	2	0	ZNF835	61868116	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.149000	0.10204	-0.483000	0.06772	0.459000	0.35465	GAG	T|0.628;G|0.372	0.372	strong		0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57176304	T	G	57176304	3	3	22	1	0	0	0	0	1	0	0	0	18183	1551	54	5	1352	5	ZNF835	19	57176304	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	106	57176304	1952679	10306	15414										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176482	57176482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacagctttcctggttttCctgcaggtcctcaacctggc	10	13	1	0	rs12462469	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57176482C>T	ENST00000537055.2	-	2	316	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	29			E -> K (in dbSNP:rs12462469). {ECO:0000269|PubMed:14702039}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCTGGTTTTCCTGCAGGTCC	0.607													.|||	2065	0.41234	0.4531	0.379	5008	,	,		15832	0.4702		0.3131	False		,,,				2504	0.4233				p.E29K		Atlas-SNP	.											.	ZNF835	106	.	0			c.G85A						PASS	.	C	LYS/GLU	1677,2285		367,943,671	75	79	78		85	1.1	0	19	dbSNP_120	78	2491,5819		372,1747,2036	yes	missense	ZNF835	NM_001005850.2	56	739,2690,2707	TT,TC,CC		29.9759,42.3271,33.9635	benign	29/538	57176482	4168,8104	1981	4155	6136	SO:0001583	missense	90485	exon2			GGTTTTCCTGCAG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.85G>A	19.37:g.57176482C>T	ENSP00000444747:p.Glu29Lys	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	148	73	0.493243	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	865	0.39606227106227104	232	0.4715447154471545	128	0.35359116022099446	264	0.46153846153846156	241	0.3179419525065963	C	8.447	0.852126	0.17034	0.423271	0.299759	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06142	3.34	2.19	1.09	0.20402	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.26318	0.146	B	0.24974	0.057	T	0.38735	-0.9647	8	0.06236	T	0.91	.	6.5636	0.22499	0.0:0.6963:0.3037:0.0	rs12462469	51	Q9Y2P0	ZN835_HUMAN	K	51;29	ENSP00000444747:E29K	ENSP00000341756:E51K	E	-	1	0	ZNF835	61868294	0.000000	0.05858	0.007000	0.13788	0.062000	0.15995	0.145000	0.16157	0.467000	0.27218	0.491000	0.48974	GAA	C|0.621;T|0.379	0.379	strong		0.607	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		T	57176482	C	T	57176482	3	4	22	1	0	0	0	0	1	0	0	0	18183	864	30	2	1530	2	ZNF835	19	57176482	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	178	57176482	1952501	10307	15415										
PEG3	5178	hgsc.bcm.edu	37	chr19	57327420	57327420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgccattacttttggtttaCtgggccctgctacactgtga	9	11	0	1	rs35947541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57327420C>A	ENST00000326441.9	-	10	2753	c.2390G>T	c.(2389-2391)aGt>aTt	p.S797I	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S797I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S671I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S673I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	797					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGGTTTACTGGGCCCTGC	0.448													C|||	47	0.00938498	0.0325	0.0058	5008	,	,		20278	0.0		0.0	False		,,,				2504	0.0				p.S797I		Atlas-SNP	.											.	PEG3	414	.	0			c.G2390T						PASS	.	C	ILE/SER,ILE/SER,ILE/SER,ILE/SER,,,ILE/SER,	90,4316	75.2+/-113.4	2,86,2115	170	164	166		2390,2012,2390,2018,,,2390,	-8	0	19	dbSNP_126	166	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	142,142,142,142,,,142,	2,93,6408	AA,AC,CC		0.0814,2.0427,0.7458	benign,benign,benign,benign,,,benign,	797/1589,671/1463,797/1589,673/1465,,,797/1589,	57327420	97,12909	2203	4300	6503	SO:0001583	missense	5178	exon9			GGTTTACTGGGCC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2390G>T	19.37:g.57327420C>A	ENSP00000326581:p.Ser797Ile	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	269	132	0.490706	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	7.904	0.734982	0.15574	0.020427	8.14E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	3.98	-7.96	0.01144	.	1.068300	0.07224	N	0.861338	T	0.00967	0.0032	L	0.35723	1.085	.	.	.	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.10450	0.002;0.005;0.005	T	0.46105	-0.9215	9	0.51188	T	0.08	0.2926	0.5139	0.00600	0.2901:0.135:0.2875:0.2874	rs35947541	673;797;732	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	797	ENSP00000326581:S797I;ENSP00000403051:S797I	ENSP00000326581:S797I	S	-	2	0	ZIM2	62019232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.085000	0.00611	-2.096000	0.00852	-1.105000	0.02106	AGT	C|0.993;A|0.007	0.007	strong		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57327420	C	A	57327420	3	1	22	1	0	0	0	0	1	0	0	0	11720	565	20	4	2380	4	PEG3	19	57327420	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	150938	57327420	1801563	10308	15416										
USP29	57663	hgsc.bcm.edu	37	chr19	57641887	57641887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactgtggagatgcaagccAagagcagcatcagagagacc	13	9	1	5	rs74511605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57641887A>G	ENST00000254181.4	+	4	2298	c.1844A>G	c.(1843-1845)cAa>cGa	p.Q615R	USP29_ENST00000598197.1_Missense_Mutation_p.Q615R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	615	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATGCAAGCCAAGAGCAGCAT	0.493													A|||	12	0.00239617	0.0091	0.0	5008	,	,		20449	0.0		0.0	False		,,,				2504	0.0				p.Q615R		Atlas-SNP	.											.	USP29	186	.	0			c.A1844G						PASS	.	A	ARG/GLN	50,4356	51.6+/-87.1	0,50,2153	73	72	72		1844	1.4	0	19	dbSNP_131	72	0,8600		0,0,4300	yes	missense	USP29	NM_020903.2	43	0,50,6453	GG,GA,AA		0.0,1.1348,0.3844	benign	615/923	57641887	50,12956	2203	4300	6503	SO:0001583	missense	57663	exon4			CAAGCCAAGAGCA		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1844A>G	19.37:g.57641887A>G	ENSP00000254181:p.Gln615Arg	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	120	74	0.616667	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	A	0.013	-1.643501	0.00792	0.011348	0.0	ENSG00000131864	ENST00000254181	T	0.74002	-0.8	2.43	1.4	0.22301	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.37571	0.1008	N	0.11313	0.125	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.32402	-0.9908	9	0.02654	T	1	0.0203	4.2465	0.10674	0.8306:0.0:0.1694:0.0	.	615	Q9HBJ7	UBP29_HUMAN	R	615	ENSP00000254181:Q615R	ENSP00000254181:Q615R	Q	+	2	0	USP29	62333699	0.021000	0.18746	0.003000	0.11579	0.085000	0.17905	2.747000	0.47475	0.347000	0.23924	0.383000	0.25322	CAA	A|0.995;G|0.005	0.005	strong		0.493	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57641887	A	G	57641887	3	3	22	1	0	0	0	0	1	0	0	0	17056	130	5	2	1846	2	USP29	19	57641887	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	314467	57641887	1487096	10309	15417										
ZNF264	9422	hgsc.bcm.edu	37	chr19	57723182	57723182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacagaatgtgggaaaacCtttattaagagcacacatct	8	8	1	2	rs61730346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57723182C>T	ENST00000263095.6	+	4	1131	c.717C>T	c.(715-717)acC>acT	p.T239T	ZNF264_ENST00000536056.1_Silent_p.T239T	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTGGGAAAACCTTTATTAAGA	0.448													.|||	48	0.00958466	0.0356	0.0	5008	,	,		21386	0.0		0.001	False		,,,				2504	0.0				p.T239T		Atlas-SNP	.											.	ZNF264	65	.	0			c.C717T						PASS	.	C		120,4286	89.2+/-127.9	2,116,2085	97	96	96		717	-2.4	0	19	dbSNP_129	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF264	NM_003417.4		2,118,6383	TT,TC,CC		0.0233,2.7236,0.938		239/628	57723182	122,12884	2203	4300	6503	SO:0001819	synonymous_variant	9422	exon4			GAAAACCTTTATT	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.717C>T	19.37:g.57723182C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	81	47	0.580247	NM_003417	A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																			C|0.990;T|0.010	0.010	strong		0.448	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			T	57723182	C	T	57723182	2	4	22	1	0	0	0	0	0	0	0	1	17801	668	24	2		2	ZNF264	19	57723182	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81295	57723182	1405801	10310	15418										
AURKC	6795	hgsc.bcm.edu	37	chr19	57743518	57743518	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgtggccctgaaggttctCttcaagtcgcagatagagaa	11	8	2	3	rs142351971	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57743518C>T	ENST00000302804.7	+	3	408	c.222C>T	c.(220-222)ctC>ctT	p.L74L	AURKC_ENST00000599062.1_Silent_p.L71L|AURKC_ENST00000415300.2_Silent_p.L55L|AURKC_ENST00000598785.1_Silent_p.L40L|AURKC_ENST00000448930.1_Silent_p.L40L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGAAGGTTCTCTTCAAGTCGC	0.517													c|||	7	0.00139776	0.0053	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.0				p.L74L		Atlas-SNP	.											AURKC_ENST00000302804,colon,carcinoma,+2,2	AURKC	97	2	0			c.C222T						PASS	.	C	,,	20,4386	28.1+/-56.4	1,18,2184	61	52	55		222,165,120	-4.8	1	19	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	AURKC	NM_001015878.1,NM_001015879.1,NM_003160.2	,,	1,18,6484	TT,TC,CC		0.0,0.4539,0.1538	,,	74/310,55/291,40/276	57743518	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	6795	exon3			GGTTCTCTTCAAG		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.222C>T	19.37:g.57743518C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	66	19	0.287879	NM_001015878	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	CCDS33128.1																																																																																			C|0.999;T|0.001	0.001	strong		0.517	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		T	57743518	C	T	57743518	2	4	22	1	0	0	0	0	0	0	0	1	1224	900	32	2		2	AURKC	19	57743518	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20336	57743518	1385465	10311	15419										
ZNF460	10794	hgsc.bcm.edu	37	chr19	57802782	57802782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtggaaaggcctttacctaCcgctccaattttgtcttgca	8	11	1	0	rs80302225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57802782C>T	ENST00000360338.3	+	3	1195	c.873C>T	c.(871-873)taC>taT	p.Y291Y	ZNF460_ENST00000537645.1_Silent_p.Y250Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTTACCTACCGCTCCAATT	0.493													c|||	23	0.00459265	0.0166	0.0014	5008	,	,		22183	0.0		0.0	False		,,,				2504	0.0				p.Y291Y		Atlas-SNP	.											.	ZNF460	59	.	0			c.C873T						PASS	.	C		66,4340	62.9+/-100.1	2,62,2139	88	81	83		873	0.3	0	19	dbSNP_132	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF460	NM_006635.3		2,63,6438	TT,TC,CC		0.0116,1.498,0.5151		291/563	57802782	67,12939	2203	4300	6503	SO:0001819	synonymous_variant	10794	exon3			TACCTACCGCTCC	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.873C>T	19.37:g.57802782C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	27	0.428571	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																			C|0.994;T|0.006	0.006	strong		0.493	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		T	57802782	C	T	57802782	2	4	22	1	0	0	0	0	0	0	0	1	17921	518	18	2		2	ZNF460	19	57802782	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59264	57802782	1326201	10312	15420										
ZNF460	10794	hgsc.bcm.edu	37	chr19	57802806	57802806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaattttgtcttgcataaCaagagccacaatgagaagaa	7	8	1	3	rs2041109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57802806C>T	ENST00000360338.3	+	3	1219	c.897C>T	c.(895-897)aaC>aaT	p.N299N	ZNF460_ENST00000537645.1_Silent_p.N258N	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCATAACAAGAGCCACA	0.468													c|||	923	0.184305	0.0908	0.3084	5008	,	,		22596	0.1657		0.2515	False		,,,				2504	0.1728				p.N299N		Atlas-SNP	.											.	ZNF460	59	.	0			c.C897T						PASS	.	C		494,3912	229.4+/-244.0	27,440,1736	95	85	89		897	-0.9	0	19	dbSNP_94	89	2199,6401	375.0+/-337.6	295,1609,2396	no	coding-synonymous	ZNF460	NM_006635.3		322,2049,4132	TT,TC,CC		25.5698,11.212,20.7058		299/563	57802806	2693,10313	2203	4300	6503	SO:0001819	synonymous_variant	10794	exon3			GCATAACAAGAGC	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.897C>T	19.37:g.57802806C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	77	40	0.519481	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																			C|0.799;T|0.201	0.201	strong		0.468	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		T	57802806	C	T	57802806	2	4	22	1	0	0	0	0	0	0	0	1	17921	477	17	2		2	ZNF460	19	57802806	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24	57802806	1326177	10313	15421										
ZNF460	10794	hgsc.bcm.edu	37	chr19	57802824	57802824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacaagagccacaatgagaaGaaacccttcgcatgcagcga	9	11	0	3	rs2041110	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57802824G>A	ENST00000360338.3	+	3	1237	c.915G>A	c.(913-915)aaG>aaA	p.K305K	ZNF460_ENST00000537645.1_Silent_p.K264K	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAATGAGAAGAAACCCTTCG	0.463													a|||	933	0.186302	0.0983	0.3084	5008	,	,		23078	0.1657		0.2515	False		,,,				2504	0.1728				p.K305K		Atlas-SNP	.											.	ZNF460	59	.	0			c.G915A						PASS	.	A		534,3872	776.9+/-414.2	29,476,1698	100	89	93		915	-3	0	19	dbSNP_94	93	2197,6403	711.0+/-405.8	294,1609,2397	no	coding-synonymous	ZNF460	NM_006635.3		323,2085,4095	AA,AG,GG		25.5465,12.1198,20.998		305/563	57802824	2731,10275	2203	4300	6503	SO:0001819	synonymous_variant	10794	exon3			TGAGAAGAAACCC	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.915G>A	19.37:g.57802824G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																			G|0.806;A|0.194	0.194	strong		0.463	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		A	57802824	G	A	57802824	2	1	22	1	0	0	0	0	0	0	0	1	17921	933	33	2		2	ZNF460	19	57802824	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	57802824	1326159	10314	15422										
ZNF543	125919	hgsc.bcm.edu	37	chr19	57840547	57840547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgtgggaagaccttttAtgactgcacagacttcagtc	10	9	1	4	rs10410649	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57840547A>G	ENST00000321545.4	+	4	2062	c.1717A>G	c.(1717-1719)Atg>Gtg	p.M573V		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	573			M -> V (in dbSNP:rs10410649).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGACCTTTTATGACTGCACA	0.413													A|||	989	0.197484	0.3169	0.1816	5008	,	,		20065	0.0317		0.2843	False		,,,				2504	0.1288				p.M573V		Atlas-SNP	.											.	ZNF543	61	.	0			c.A1717G						PASS	.	A	VAL/MET	1351,3055	450.6+/-349.4	200,951,1052	87	81	84		1717	-2.8	0	19	dbSNP_119	84	2352,6248	393.0+/-344.2	323,1706,2271	yes	missense	ZNF543	NM_213598.3	21	523,2657,3323	GG,GA,AA		27.3488,30.6627,28.4715	benign	573/601	57840547	3703,9303	2203	4300	6503	SO:0001583	missense	125919	exon4			CCTTTTATGACTG	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1717A>G	19.37:g.57840547A>G	ENSP00000322545:p.Met573Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	123	60	0.487805	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	466	0.21336996336996336	152	0.3089430894308943	79	0.21823204419889503	18	0.03146853146853147	217	0.2862796833773087	A	4.434	0.080299	0.08533	0.306627	0.273488	ENSG00000178229	ENST00000321545	T	0.05513	3.43	2.45	-2.81	0.05805	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47573	-0.9107	8	0.52906	T	0.07	.	5.4467	0.16539	0.323:0.4652:0.2119:0.0	rs10410649;rs52820047;rs10410649	573	Q08ER8	ZN543_HUMAN	V	573	ENSP00000322545:M573V	ENSP00000322545:M573V	M	+	1	0	ZNF543	62532359	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.653000	0.05360	-0.852000	0.04141	0.379000	0.24179	ATG	A|0.737;G|0.263	0.263	strong		0.413	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		G	57840547	A	G	57840547	3	3	22	1	0	0	0	0	1	0	0	0	17973	449	16	2	1731	2	ZNF543	19	57840547	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	37723	57840547	1288436	10315	15423										
ZNF17	7565	hgsc.bcm.edu	37	chr19	57931553	57931553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattgtttaggtacaactcCgaccttattaaacatcagcg	6	9	1	0	rs10417533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:57931553C>T	ENST00000601808.1	+	3	906	c.693C>T	c.(691-693)tcC>tcT	p.S231S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Silent_p.S233S	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	231					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)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGTACAACTCCGACCTTATTA	0.413													C|||	1133	0.226238	0.3449	0.2176	5008	,	,		23816	0.0794		0.2694	False		,,,				2504	0.1789				p.S231S	Melanoma(149;1637 1853 29914 42869 44988)	Atlas-SNP	.											.	ZNF17	49	.	0			c.C693T						PASS	.	C		1306,3092	411.3+/-335.7	195,916,1088	87	89	89		693	-3.5	0	19	dbSNP_119	89	2171,6427	363.7+/-333.3	274,1623,2402	no	coding-synonymous	ZNF17	NM_006959.2		469,2539,3490	TT,TC,CC		25.2501,29.6953,26.7544		231/663	57931553	3477,9519	2199	4299	6498	SO:0001819	synonymous_variant	7565	exon3			CAACTCCGACCTT	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.693C>T	19.37:g.57931553C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_006959	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	CCDS42636.1																																																																																			C|0.772;T|0.228	0.228	strong		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		T	57931553	C	T	57931553	2	4	22	1	0	0	0	0	0	0	0	1	17740	639	23	1		1	ZNF17	19	57931553	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91006	57931553	1197430	10316	15424										
ZNF211	10520	hgsc.bcm.edu	37	chr19	58152182	58152182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcatcttcccagaatgccGactcctgtgaaatatgttgc	8	11	2	2	rs34897843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58152182G>A	ENST00000347302.3	+	3	507	c.328G>A	c.(328-330)Gac>Aac	p.D110N	ZNF211_ENST00000240731.4_Missense_Mutation_p.D123N|ZNF211_ENST00000391703.3_Missense_Mutation_p.D49N|ZNF211_ENST00000541801.1_Missense_Mutation_p.D101N|ZNF211_ENST00000544273.1_Missense_Mutation_p.D122N|ZNF211_ENST00000254182.7_Missense_Mutation_p.D101N|ZNF211_ENST00000420680.1_Missense_Mutation_p.D114N|ZNF211_ENST00000299871.5_Missense_Mutation_p.D175N	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	110			D -> N (in dbSNP:rs34897843).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAATGCCGACTCCTGTGA	0.453													g|||	32	0.00638978	0.0204	0.0043	5008	,	,		21518	0.0		0.001	False		,,,				2504	0.001				p.D175N		Atlas-SNP	.											.	ZNF211	78	.	0			c.G523A						PASS	.	A	ASN/ASP,ASN/ASP	123,4283	91.1+/-129.8	1,121,2081	98	98	98		367,328	-0.9	0	19	dbSNP_126	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF211	NM_006385.3,NM_198855.2	23,23	1,122,6380	AA,AG,GG		0.0116,2.7916,0.9534	benign,benign	123/578,110/565	58152182	124,12882	2203	4300	6503	SO:0001583	missense	10520	exon5			AATGCCGACTCCT	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.328G>A	19.37:g.58152182G>A	ENSP00000339562:p.Asp110Asn	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	242	115	0.475207	NM_001265597	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	13|13	0.005952380952380952|0.005952380952380952	11|11	0.022357723577235773|0.022357723577235773	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	10.25|10.25	1.298596|1.298596	0.23650|0.23650	0.027916|0.027916	1.16E-4|1.16E-4	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.06768|.	3.31;3.33;3.26;3.27;3.26;3.37;3.33;3.33|.	3.7|3.7	-0.942|-0.942	0.10398|0.10398	.|.	.|.	.|.	.|.	.|.	T|T	0.02304|0.02304	0.0071|0.0071	N|N	0.01493|0.01493	-0.835|-0.835	0.09310|0.09310	N|N	1|1	B;B;B;P;B;B|.	0.39060|.	0.091;0.038;0.001;0.657;0.011;0.011|.	B;B;B;B;B;B|.	0.31812|.	0.013;0.008;0.0;0.136;0.004;0.006|.	T|T	0.30297|0.30297	-0.9983|-0.9983	9|5	0.20519|.	T|.	0.43|.	.|.	0.6887|0.6887	0.00887|0.00887	0.1784:0.3318:0.1832:0.3066|0.1784:0.3318:0.1832:0.3066	rs34897843|rs34897843	114;122;175;101;110;123|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	N|Q	114;110;101;49;101;175;122;123|113	ENSP00000399193:D114N;ENSP00000339562:D110N;ENSP00000254182:D101N;ENSP00000375584:D49N;ENSP00000442601:D101N;ENSP00000299871:D175N;ENSP00000441386:D122N;ENSP00000240731:D123N|.	ENSP00000240731:D123N|.	D|R	+|+	1|2	0|0	ZNF211|ZNF211	62843994|62843994	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	-0.035000|-0.035000	0.12205|0.12205	-0.041000|-0.041000	0.13558|0.13558	-1.230000|-1.230000	0.01575|0.01575	GAC|CGA	G|0.991;A|0.009	0.009	strong		0.453	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			A	58152182	G	A	58152182	3	1	22	1	0	0	0	0	1	0	0	0	17764	1058	37	1	381	1	ZNF211	19	58152182	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	220629	58152182	976801	10317	15425										
ZNF587	84914	hgsc.bcm.edu	37	chr19	58370744	58370744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgttcacactggagaaGggccttatgagtgtagagaa	13	6	1	3	rs201869821	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58370744G>A	ENST00000339656.5	+	3	1146	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.G321R|ZNF587_ENST00000419854.1_Missense_Mutation_p.G279R	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	322					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CACTGGAGAAGGGCCTTATGA	0.473													.|||	671	0.133986	0.4274	0.0504	5008	,	,		18971	0.0526		0.0149	False		,,,				2504	0.0031				p.G322R	Pancreas(59;641 1233 1885 20055 50741)	Atlas-SNP	.											.	ZNF587	53	.	0			c.G964A						PASS	.	G	ARG/GLY,ARG/GLY	780,3588		221,338,1625	105	146	133		961,964	0.6	0.2	19	dbSNP_132	133	4,8596		0,4,4296	no	missense,missense	ZNF587	NM_001204817.1,NM_032828.3	125,125	221,342,5921	AA,AG,GG		0.0465,17.8571,6.0457	benign,benign	321/575,322/576	58370744	784,12184	2184	4300	6484	SO:0001583	missense	84914	exon3			GGAGAAGGGCCTT	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.964G>A	19.37:g.58370744G>A	ENSP00000345479:p.Gly322Arg	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	201	63	0.313433	NM_032828	A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.627794	0.00813	0.178571	4.65E-4	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.15603	2.41;2.41;2.41	1.76	0.637	0.17735	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00069	-2.28	0.27094	N	0.962789	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42103	-0.9471	8	0.10902	T	0.67	.	5.5186	0.16919	0.8297:0.0:0.1703:0.0	.	321;322	G3V0H5;Q96SQ5	.;ZN587_HUMAN	R	279;321;322;322;279	ENSP00000393865:G321R;ENSP00000345479:G322R;ENSP00000406999:G279R	ENSP00000345479:G322R	G	+	1	0	ZNF587	63062556	0.000000	0.05858	0.162000	0.22713	0.192000	0.23643	1.091000	0.30915	-0.047000	0.13423	0.195000	0.17529	GGG	G|0.999;A|0.001	0.001	weak		0.473	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		A	58370744	G	A	58370744	3	1	22	1	0	0	0	0	1	0	0	0	18017	1000	35	2	974	2	ZNF587	19	58370744	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	218562	58370744	758239	10318	15426										
ZNF587	84914	hgsc.bcm.edu	37	chr19	58371274	58371274	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgaatgcagtgaatgtggGaaatcatttctttccagctc	9	7	2	2	rs10405892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58371274G>T	ENST00000339656.5	+	3	1676	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000419854.1_Silent_p.G455G|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.G497G|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	498					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTGAATGTGGGAAATCATTTC	0.408																																					p.G498G	Pancreas(59;641 1233 1885 20055 50741)	Atlas-SNP	.											ZNF587,NS,carcinoma,+2,1	ZNF587	53	1	0			c.G1494T						PASS	.						132	136	134					19																	58371274		2203	4300	6503	SO:0001819	synonymous_variant	84914	exon3			ATGTGGGAAATCA	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1494G>T	19.37:g.58371274G>T		Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	338	155	0.45858	NM_032828	A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	CCDS12964.1																																																																																			G|0.822;T|0.178	0.178	strong		0.408	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		T	58371274	G	T	58371274	2	4	22	1	0	0	0	0	0	0	0	1	18017	1161	41	4		4	ZNF587	19	58371274	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	530	58371274	757709	10319	15427										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385987	58385987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaactctctgatgattactCaagctagcatatttgctaaa	6	8	2	3	rs111291730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58385987C>G	ENST00000435989.2	-	3	1005	c.771G>C	c.(769-771)ttG>ttC	p.L257F	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	257					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GATGATTACTCAAGCTAGCAT	0.398													.|||	16	0.00319489	0.0121	0.0	5008	,	,		23651	0.0		0.0	False		,,,				2504	0.0				p.L257F		Atlas-SNP	.											.	ZNF814	93	.	0			c.G771C						PASS	.						120	91	100					19																	58385987		692	1591	2283	SO:0001583	missense	730051	exon3			ATTACTCAAGCTA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.771G>C	19.37:g.58385987C>G	ENSP00000410545:p.Leu257Phe	Somatic	234	1	0.0042735		WXS	Illumina HiSeq	Phase_I	257	126	0.490272	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	.	6.736	0.504632	0.12822	.	.	ENSG00000204514	ENST00000435989	T	0.52057	0.68	2.23	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32010	0.0815	M	0.62723	1.935	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.30208	-0.9986	9	0.49607	T	0.09	.	5.757	0.18178	0.2141:0.4859:0.3:0.0	.	257	B7Z6K7	ZN814_HUMAN	F	257	ENSP00000410545:L257F	ENSP00000410545:L257F	L	-	3	2	ZNF814	63077799	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.213000	0.17521	-0.743000	0.04784	-2.575000	0.00170	TTG	C|0.998;G|0.002	0.002	strong		0.398	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385987	C	G	58385987	3	3	22	1	0	0	0	0	1	0	0	0	18173	825	29	4	1800	4	ZNF814	19	58385987	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14713	58385987	742996	10320	15428										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58386314	58386314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcctcaacactccctctGtagggtttctctccaatgtg	7	15	3	0	rs111313171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58386314G>A	ENST00000435989.2	-	3	678	c.444C>T	c.(442-444)taC>taT	p.Y148Y	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	148					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACTCCCTCTGTAGGGTTTCT	0.483													.|||	397	0.0792732	0.2821	0.0331	5008	,	,		22387	0.0		0.001	False		,,,				2504	0.0				p.Y148Y		Atlas-SNP	.											.	ZNF814	93	.	0			c.C444T						PASS	.	G		365,1019		52,261,379	59	50	53		444	-5.5	0	19	dbSNP_132	53	7,3173		0,7,1583	no	coding-synonymous	ZNF814	NM_001144989.1		52,268,1962	AA,AG,GG		0.2201,26.3728,8.1507		148/856	58386314	372,4192	692	1590	2282	SO:0001819	synonymous_variant	730051	exon3			CCCTCTGTAGGGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.444C>T	19.37:g.58386314G>A		Somatic	744	1	0.00134409		WXS	Illumina HiSeq	Phase_I	779	332	0.426187	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			G|0.941;A|0.059	0.059	strong		0.483	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58386314	G	A	58386314	2	1	22	1	0	0	0	0	0	0	0	1	18173	1372	48	2		2	ZNF814	19	58386314	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	327	58386314	742669	10321	15429										
ZNF417	147687	hgsc.bcm.edu	37	chr19	58420699	58420699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctttctccagtgtgaacaCgctgatggctaataaggctg	11	10	1	2	rs3745133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58420699C>A	ENST00000312026.5	-	3	1111	c.947G>T	c.(946-948)cGt>cTt	p.R316L	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R315L|ZNF417_ENST00000536263.1_Missense_Mutation_p.R117L	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	316				R -> L (in Ref. 3; AAH25783). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R316L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGAACACGCTGATGGCT	0.458													C|||	1690	0.33746	0.4153	0.2911	5008	,	,		25205	0.2817		0.3499	False		,,,				2504	0.3098				p.R316L		Atlas-SNP	.											ZNF417,NS,carcinoma,0,1	ZNF417	44	1	1	Substitution - Missense(1)	stomach(1)	c.G947T						PASS	.						167	147	154					19																	58420699		2203	4300	6503	SO:0001583	missense	147687	exon3			TGAACACGCTGAT	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.947G>T	19.37:g.58420699C>A	ENSP00000311319:p.Arg316Leu	Somatic	340	0	0		WXS	Illumina HiSeq	Phase_I	353	52	0.147309	NM_152475	B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	CCDS12965.1	645	0.29532967032967034	167	0.3394308943089431	107	0.2955801104972376	118	0.2062937062937063	253	0.3337730870712401	.	8.577	0.881369	0.17467	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.25085	1.82;1.82	2.15	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.60012	1.86	0.80722	P	0.0	P	0.38335	0.627	B	0.36922	0.236	T	0.32981	-0.9886	8	0.66056	D	0.02	.	7.8865	0.29653	0.0:0.6777:0.0:0.3223	rs3745133;rs17856732	316	Q8TAU3	ZN417_HUMAN	L	316;117	ENSP00000311319:R316L;ENSP00000442760:R117L	ENSP00000311319:R316L	R	-	2	0	ZNF417	63112511	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-2.414000	0.01037	-0.691000	0.05135	-1.050000	0.02344	CGT	C|0.500;A|0.500	0.500	weak		0.458	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		A	58420699	C	A	58420699	3	1	22	1	0	0	0	0	1	0	0	0	17891	536	19	4	784	4	ZNF417	19	58420699	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34385	58420699	708284	10322	15430										
ZNF135	7694	hgsc.bcm.edu	37	chr19	58572959	58572959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtttcaggagcaagtgacGtttgaggacgtggtagtggg	17	4	1	2	rs2288274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58572959G>A	ENST00000313434.5	+	3	146	c.45G>A	c.(43-45)acG>acA	p.T15T	ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Silent_p.T27T|ZNF135_ENST00000439855.2_Silent_p.T15T|ZNF135_ENST00000511556.1_Silent_p.T15T|ZNF135_ENST00000401053.4_Silent_p.T27T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCAAGTGACGTTTGAGGACG	0.602													G|||	1351	0.269768	0.2859	0.2277	5008	,	,		18117	0.2649		0.2992	False		,,,				2504	0.2526				p.T27T		Atlas-SNP	.											ZNF135_ENST00000401053,colon,carcinoma,+1,3	ZNF135	159	3	0			c.G81A						scavenged	.	G	,,,,	1289,3117	438.0+/-345.2	185,919,1099	133	117	122		81,81,81,45,81	-1	0.9	19	dbSNP_100	122	2345,6255	392.4+/-344.0	308,1729,2263	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF135	NM_001164527.1,NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,,	493,2648,3362	AA,AG,GG		27.2674,29.2556,27.941	,,,,	27/124,27/116,27/391,15/671,27/683	58572959	3634,9372	2203	4300	6503	SO:0001819	synonymous_variant	7694	exon2			AGTGACGTTTGAG	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.45G>A	19.37:g.58572959G>A		Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	229	102	0.445415	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37		625	0.28617216117216115	158	0.32113821138211385	80	0.22099447513812154	158	0.2762237762237762	229	0.3021108179419525	G	7.475	0.647440	0.14516	0.292556	0.272674	ENSG00000176293	ENST00000391699	.	.	.	2.52	-1.02	0.10135	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999899716	.	.	.	.	.	.	T	0.42207	-0.9465	3	.	.	.	.	1.8703	0.03207	0.1896:0.2962:0.3818:0.1323	rs2288274;rs56480989;rs57809788;rs2288274	.	.	.	H	21	.	.	R	+	2	0	ZNF135	63264771	0.000000	0.05858	0.950000	0.38849	0.869000	0.49853	-2.496000	0.00970	-0.105000	0.12132	-1.339000	0.01253	CGT	G|0.716;A|0.284	0.284	strong		0.602	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		A	58572959	G	A	58572959	2	1	22	1	0	0	0	0	0	0	0	1	17722	1132	40	1		1	ZNF135	19	58572959	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	152260	58572959	556024	10323	15431										
ZNF135	7694	hgsc.bcm.edu	37	chr19	58579464	58579464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagccagcttgctcccctcAttcagcatcagaggatccac	7	16	4	1	rs73938600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58579464A>G	ENST00000313434.5	+	5	1713	c.1612A>G	c.(1612-1614)Att>Gtt	p.I538V	ZNF135_ENST00000506786.1_Missense_Mutation_p.I496V|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.I538V|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.I550V|ZNF135_ENST00000401053.4_Missense_Mutation_p.I562V	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	538					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGCTCCCCTCATTCAGCATCA	0.542													A|||	23	0.00459265	0.0159	0.0014	5008	,	,		19819	0.0		0.001	False		,,,				2504	0.0				p.I562V		Atlas-SNP	.											.	ZNF135	159	.	0			c.A1684G						PASS	.	A	,,VAL/ILE,VAL/ILE	74,4332	66.4+/-103.9	2,70,2131	80	76	77		,,1648,1684	3.4	1	19	dbSNP_130	77	2,8592	2.2+/-6.3	0,2,4295	no	utr-3,intron,missense,missense	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,29,29	2,72,6426	GG,GA,AA		0.0233,1.6795,0.5846	,,benign,benign	,,550/671,562/683	58579464	76,12924	2203	4297	6500	SO:0001583	missense	7694	exon4			CCCCTCATTCAGC	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1612A>G	19.37:g.58579464A>G	ENSP00000321406:p.Ile538Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	31	0.462687	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	A	3.025	-0.200904	0.06219	0.016795	2.33E-4	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T	0.35605	4.1;4.1;4.1;4.1;1.3	3.37	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	N	0.11364	0.135	0.09310	N	1	P;P	0.43287	0.591;0.802	B;P	0.48873	0.437;0.593	T	0.04650	-1.0936	9	0.23891	T	0.37	.	6.8432	0.23975	0.8839:0.0:0.1161:0.0	.	550;538	E9PEV2;P52742	.;ZN135_HUMAN	V	562;538;538;550;496	ENSP00000441410:I562V;ENSP00000444828:I538V;ENSP00000321406:I538V;ENSP00000422074:I550V;ENSP00000427691:I496V	ENSP00000321406:I538V	I	+	1	0	ZNF135	63271276	0.000000	0.05858	1.000000	0.80357	0.831000	0.47069	-1.095000	0.03356	1.545000	0.49373	0.455000	0.32223	ATT	.	.	weak		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		G	58579464	A	G	58579464	3	3	22	1	0	0	0	0	1	0	0	0	17722	217	8	2	1815	2	ZNF135	19	58579464	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6505	58579464	549519	10324	15432										
ZSCAN18	65982	hgsc.bcm.edu	37	chr19	58597611	58597611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtccagcctggaggcagcGtcaggctgggaaagctgata	16	9	1	1	rs147947490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58597611G>C	ENST00000240727.6	-	6	1167	c.768C>G	c.(766-768)gaC>gaG	p.D256E	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.D312E|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.D121E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.D256E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	256					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGAGGCAGCGTCAGGCTGGG	0.542													G|||	25	0.00499201	0.0174	0.0014	5008	,	,		17998	0.0		0.001	False		,,,				2504	0.0				p.D312E		Atlas-SNP	.											.	ZSCAN18	104	.	0			c.C936G						PASS	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	74,4332	65.3+/-102.7	1,72,2130	74	64	67		936,768,363,768	-1.3	0	19	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	ZSCAN18	NM_001145542.1,NM_001145543.1,NM_001145544.1,NM_023926.4	45,45,45,45	1,74,6428	CC,CG,GG		0.0233,1.6795,0.5843	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	312/567,256/511,121/375,256/511	58597611	76,12930	2203	4300	6503	SO:0001583	missense	65982	exon6			GGCAGCGTCAGGC	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.768C>G	19.37:g.58597611G>C	ENSP00000240727:p.Asp256Glu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	106	48	0.45283	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	12.06	1.825940	0.32237	0.016795	2.33E-4	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02197	4.64;4.4	3.3	-1.28	0.09318	.	0.195954	0.25233	N	0.032148	T	0.00845	0.0028	N	0.14661	0.345	0.09310	N	1	D;D;D;P	0.56521	0.976;0.976;0.972;0.953	P;P;P;B	0.48270	0.506;0.506;0.572;0.369	T	0.52990	-0.8501	10	0.28530	T	0.3	-5.2194	7.362	0.26752	0.4923:0.0:0.5077:0.0	.	312;121;256;256	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	E	312;256;121	ENSP00000240727:D256E;ENSP00000392653:D121E	ENSP00000240727:D256E	D	-	3	2	ZSCAN18	63289423	0.065000	0.20965	0.014000	0.15608	0.577000	0.36160	0.093000	0.15086	-0.370000	0.08016	-0.291000	0.09656	GAC	G|0.993;C|0.007	0.007	strong		0.542	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		C	58597611	G	C	58597611	3	2	22	1	0	0	0	0	1	0	0	0	18227	1136	40	4	772	4	ZSCAN18	19	58597611	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18147	58597611	531372	10325	15433										
ZSCAN22	342945	hgsc.bcm.edu	37	chr19	58850341	58850341	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaccagcgggtgcacacGggggagcggccctacgagtg	17	13	0	0	rs59054150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58850341G>C	ENST00000329665.4	+	3	1272	c.1125G>C	c.(1123-1125)acG>acC	p.T375T		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	375					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(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGGTGCACACGGGGGAGCGGC	0.587													G|||	671	0.133986	0.208	0.1383	5008	,	,		19806	0.0982		0.0606	False		,,,				2504	0.1431				p.T375T		Atlas-SNP	.											.	ZSCAN22	47	.	0			c.G1125C						PASS	.	G		796,3610	313.0+/-292.9	58,680,1465	63	61	62		1125	-7.6	0	19	dbSNP_129	62	412,8188	125.8+/-184.4	13,386,3901	no	coding-synonymous	ZSCAN22	NM_181846.2		71,1066,5366	CC,CG,GG		4.7907,18.0663,9.288		375/492	58850341	1208,11798	2203	4300	6503	SO:0001819	synonymous_variant	342945	exon3			GCACACGGGGGAG	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1125G>C	19.37:g.58850341G>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_181846	Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	CCDS12975.1																																																																																			G|0.905;C|0.095	0.095	strong		0.587	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		C	58850341	G	C	58850341	2	2	22	1	0	0	0	0	0	0	0	1	18231	1103	39	4		4	ZSCAN22	19	58850341	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	252730	58850341	278642	10326	15434										
ZNF497	162968	hgsc.bcm.edu	37	chr19	58868480	58868480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggtggatgagctgcgaGtgcgcgcggaaggccttgcc	19	9	0	1	rs12609654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58868480G>T	ENST00000311044.3	-	3	710	c.522C>A	c.(520-522)caC>caA	p.H174Q	A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H174Q|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	174			H -> Q (in dbSNP:rs12609654). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGAGCTGCGAGTGCGCGCGGA	0.677													G|||	1917	0.382788	0.4856	0.3746	5008	,	,		15859	0.1825		0.4006	False		,,,				2504	0.4376				p.H174Q		Atlas-SNP	.											.	ZNF497	22	.	0			c.C522A						PASS	.	G	GLN/HIS,GLN/HIS	2210,2196	561.4+/-380.7	560,1090,553	31	25	27		522,522	-0.6	0	19	dbSNP_120	27	3902,4696	524.8+/-380.6	869,2164,1266	yes	missense,missense	ZNF497	NM_001207009.1,NM_198458.2	24,24	1429,3254,1819	TT,TG,GG		45.3826,49.8411,47.0009	benign,benign	174/499,174/499	58868480	6112,6892	2203	4299	6502	SO:0001583	missense	162968	exon2			CTGCGAGTGCGCG	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.522C>A	19.37:g.58868480G>T	ENSP00000311183:p.His174Gln	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	246	120	0.487805	NM_001207009	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	802	0.36721611721611724	236	0.4796747967479675	157	0.43370165745856354	108	0.1888111888111888	301	0.3970976253298153	G	13.05	2.120431	0.37436	0.501589	0.453826	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.35605	1.3;1.3	0.62	-0.577	0.11727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12569	0.235	0.80722	P	0.0	P	0.35107	0.484	B	0.22880	0.042	T	0.46911	-0.9157	8	0.44086	T	0.13	.	5.7584	0.18186	0.2752:0.0:0.7248:0.0	rs12609654;rs58652230;rs12609654	174	Q6ZNH5	ZN497_HUMAN	Q	174;174;19	ENSP00000311183:H174Q;ENSP00000402815:H174Q	ENSP00000311183:H174Q	H	-	3	2	ZNF497	63560292	0.000000	0.05858	0.004000	0.12327	0.420000	0.31355	-1.525000	0.02231	-0.298000	0.08921	0.205000	0.17691	CAC	G|0.561;T|0.439	0.439	strong		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		T	58868480	G	T	58868480	3	4	22	1	0	0	0	0	1	0	0	0	17943	1020	36	4	978	4	ZNF497	19	58868480	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18139	58868480	260503	10327	15435										
ZNF324	25799	hgsc.bcm.edu	37	chr19	58982447	58982447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacgcctgagcggcagaaAccatgtgcacaggaggtccc	14	12	0	2	rs61742224	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58982447A>G	ENST00000536459.2	+	4	1297	c.588A>G	c.(586-588)aaA>aaG	p.K196K	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Silent_p.K196K|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	196					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCGGCAGAAACCATGTGCAC	0.652													A|||	292	0.0583067	0.1891	0.0288	5008	,	,		9263	0.005		0.001	False		,,,				2504	0.0164				p.K196K		Atlas-SNP	.											ZNF324,NS,carcinoma,0,1	ZNF324	46	1	0			c.A588G						scavenged	.	A		786,3620	295.3+/-283.6	63,660,1480	36	43	40		588	-0.2	0	19	dbSNP_129	40	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous	ZNF324	NM_014347.2		63,671,5769	GG,GA,AA		0.1279,17.8393,6.1279		196/554	58982447	797,12209	2203	4300	6503	SO:0001819	synonymous_variant	25799	exon4			GCAGAAACCATGT	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.588A>G	19.37:g.58982447A>G		Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_014347	B3KRX1	Silent	SNP	ENST00000536459.2	37	CCDS12981.1																																																																																			A|0.942;G|0.058	0.058	strong		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		G	58982447	A	G	58982447	2	3	22	1	0	0	0	0	0	0	0	1	17841	40	2	2		2	ZNF324	19	58982447	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	113967	58982447	146536	10328	15436										
ZNF446	55663	hgsc.bcm.edu	37	chr19	58991075	58991075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcgatgctggagaagtaCggcacagtggtctccctggg	16	9	1	1	rs140158663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:58991075C>T	ENST00000594369.1	+	5	1074	c.693C>T	c.(691-693)taC>taT	p.Y231Y	ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000596341.1_Silent_p.Y231Y	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	231	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGGAGAAGTACGGCACAGTGG	0.667													C|||	8	0.00159744	0.0061	0.0	5008	,	,		13917	0.0		0.0	False		,,,				2504	0.0				p.Y231Y		Atlas-SNP	.											.	ZNF446	22	.	0			c.C693T						PASS	.	C		19,4387	25.3+/-52.1	0,19,2184	106	93	97		693	-0.8	0.5	19	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	ZNF446	NM_017908.2		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		231/451	58991075	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	55663	exon5			GAAGTACGGCACA		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.693C>T	19.37:g.58991075C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_017908		Silent	SNP	ENST00000594369.1	37	CCDS12982.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	18.25	3.582969	0.65992	0.004312	0.0	ENSG00000083838	ENST00000391694	.	.	.	4.99	-0.83	0.10792	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.21675	N	0.999593	.	.	.	.	.	.	T	0.37126	-0.9719	5	0.87932	D	0	-20.9173	7.3852	0.26878	0.0:0.4473:0.0:0.5527	.	.	.	.	M	61	.	ENSP00000375576:T61M	T	+	2	0	ZNF446	63682887	0.000000	0.05858	0.518000	0.27811	0.871000	0.50021	-0.566000	0.05922	0.062000	0.16340	0.655000	0.94253	ACG	C|0.998;T|0.002	0.002	strong		0.667	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		T	58991075	C	T	58991075	2	4	22	1	0	0	0	0	0	0	0	1	17916	547	19	1		1	ZNF446	19	58991075	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8628	58991075	137908	10329	15437										
SLC27A5	10998	hgsc.bcm.edu	37	chr19	59023166	59023166	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggggccgagccagggccGtgctaacatggccagcccaa					rs34415062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59023166G>A	ENST00000263093.2	-	1	266	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R53W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	53			R -> W (in dbSNP:rs34415062).		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCAGGGCCGTGCTAACATG	0.697													g|||	810	0.161741	0.1823	0.1715	5008	,	,		16961	0.0565		0.2187	False		,,,				2504	0.1769				p.R53W		Atlas-SNP	.											.	SLC27A5	58	.	0			c.C157T						PASS	.	A	TRP/ARG	758,3572		76,606,1483	9	10	10		157	-8.6	0	19	dbSNP_126	10	1437,7025		126,1185,2920	yes	missense	SLC27A5	NM_012254.2	101	202,1791,4403	AA,AG,GG		16.9818,17.5058,17.1592	benign	53/691	59023166	2195,10597	2165	4231	6396	SO:0001583	missense	10998	exon1			AGGGCCGTGCTAA	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.157C>T	19.37:g.59023166G>A	ENSP00000263093:p.Arg53Trp	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	98	49	0.5	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	354	0.1620879120879121	103	0.20934959349593496	64	0.17679558011049723	34	0.05944055944055944	153	0.20184696569920843	g	10.06	1.248102	0.22880	0.175058	0.169818	ENSG00000083807	ENST00000263093	T	0.55760	0.5	4.31	-8.62	0.00881	.	3.204120	0.01052	N	0.004491	T	0.00039	0.0001	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03394	-1.1041	9	0.37606	T	0.19	0.0155	6.2565	0.20877	0.2565:0.0993:0.5413:0.103	rs34415062;rs34415062	53	Q9Y2P5	S27A5_HUMAN	W	53	ENSP00000263093:R53W	ENSP00000263093:R53W	R	-	1	2	SLC27A5	63714978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.165000	0.01274	-3.044000	0.00262	-0.372000	0.07161	CGG	G|0.817;A|0.183	0.183	strong		0.697	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		A	59023166	G	A	59023166	3	1	22	1	0	0	0	0	1	0	0	0	14529	1144	40	1	1955	1	SLC27A5	19	59023166	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32091	59023166	105817	10330	15438	330	2								
SLC27A5	10998	hgsc.bcm.edu	37	chr19	59023174	59023174	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagccagggccgtgctaacAtggccagcccaagtagcacg					rs35350976	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59023174A>G	ENST00000263093.2	-	1	258	c.149T>C	c.(148-150)aTg>aCg	p.M50T	SLC27A5_ENST00000601355.1_Missense_Mutation_p.M50T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	50			M -> T (in dbSNP:rs35350976).		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCGTGCTAACATGGCCAGCCC	0.701													A|||	809	0.161542	0.1823	0.1715	5008	,	,		17235	0.0556		0.2187	False		,,,				2504	0.1769				p.M50T		Atlas-SNP	.											.	SLC27A5	58	.	0			c.T149C						PASS	.	A	THR/MET	749,3597		75,599,1499	9	11	10		149	-0.9	0	19	dbSNP_126	10	1449,7049		128,1193,2928	yes	missense	SLC27A5	NM_012254.2	81	203,1792,4427	GG,GA,AA		17.0511,17.2342,17.113	benign	50/691	59023174	2198,10646	2173	4249	6422	SO:0001583	missense	10998	exon1			GCTAACATGGCCA	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.149T>C	19.37:g.59023174A>G	ENSP00000263093:p.Met50Thr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	96	47	0.489583	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	349	0.15979853479853479	100	0.2032520325203252	62	0.1712707182320442	34	0.05944055944055944	153	0.20184696569920843	a	8.140	0.784999	0.16189	0.172342	0.170511	ENSG00000083807	ENST00000263093	T	0.51574	0.7	4.31	-0.944	0.10392	.	2.348050	0.01898	N	0.038985	T	0.00039	0.0001	L	0.36672	1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09818	-1.0657	9	0.34782	T	0.22	-0.0265	0.6905	0.00890	0.3719:0.1775:0.1056:0.345	rs35350976	50	Q9Y2P5	S27A5_HUMAN	T	50	ENSP00000263093:M50T	ENSP00000263093:M50T	M	-	2	0	SLC27A5	63714986	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.040000	0.13905	-0.051000	0.13334	0.374000	0.22700	ATG	A|0.840;G|0.160	0.160	strong		0.701	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		G	59023174	A	G	59023174	3	3	22	1	0	0	0	0	1	0	0	0	14529	217	8	2	1963	2	SLC27A5	19	59023174	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8	59023174	105809	10331	15439	330	2								
SLC27A5	10998	hgsc.bcm.edu	37	chr19	59023213	59023213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcaacatgtgggatcccccAggagccagcgcagggtcaag	14	13	1	0	rs146147877	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59023213A>C	ENST00000263093.2	-	1	219	c.110T>G	c.(109-111)cTg>cGg	p.L37R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.L37R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	37					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGGATCCCCCAGGAGCCAGCG	0.687													A|||	24	0.00479233	0.0182	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0				p.L37R		Atlas-SNP	.											.	SLC27A5	58	.	0			c.T110G						PASS	.	A	ARG/LEU	53,4285		0,53,2116	8	9	9		110	4.3	1	19	dbSNP_134	9	0,8524		0,0,4262	yes	missense	SLC27A5	NM_012254.2	102	0,53,6378	CC,CA,AA		0.0,1.2218,0.4121	probably-damaging	37/691	59023213	53,12809	2169	4262	6431	SO:0001583	missense	10998	exon1			TCCCCCAGGAGCC	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.110T>G	19.37:g.59023213A>C	ENSP00000263093:p.Leu37Arg	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	37	0.5	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	a	14.75	2.628307	0.46944	0.012218	0.0	ENSG00000083807	ENST00000263093	T	0.59638	0.25	4.31	4.31	0.51392	.	0.334193	0.17602	N	0.168398	T	0.48241	0.1489	M	0.62723	1.935	0.37946	D	0.932495	D	0.58620	0.983	P	0.53401	0.725	T	0.66368	-0.5941	10	0.87932	D	0	-16.4075	10.4112	0.44294	1.0:0.0:0.0:0.0	.	37	Q9Y2P5	S27A5_HUMAN	R	37	ENSP00000263093:L37R	ENSP00000263093:L37R	L	-	2	0	SLC27A5	63715025	1.000000	0.71417	0.975000	0.42487	0.133000	0.20885	3.179000	0.50887	1.889000	0.54706	0.374000	0.22700	CTG	A|0.995;C|0.005	0.005	strong		0.687	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		C	59023213	A	C	59023213	3	2	22	1	0	0	0	0	1	0	0	0	14529	188	7	5	2002	5	SLC27A5	19	59023213	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	39	59023213	105770	10332	15440										
UBE2M	9040	hgsc.bcm.edu	37	chr19	59067585	59067585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttgttcagtgggtcctcGgggttgggctcctgtggcca	15	11	1	0	rs8105097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59067585G>A	ENST00000253023.3	-	6	1001	c.423C>T	c.(421-423)ccC>ccT	p.P141P	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	141					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGGGTCCTCGGGGTTGGGCT	0.617													G|||	389	0.0776757	0.2617	0.0274	5008	,	,		15085	0.005		0.003	False		,,,				2504	0.0164				p.P141P		Atlas-SNP	.											.	UBE2M	14	.	0			c.C423T						PASS	.	G		1004,3402	374.9+/-321.4	124,756,1323	63	67	66		423	-8.8	0.5	19	dbSNP_116	66	15,8585	10.5+/-38.8	0,15,4285	no	coding-synonymous	UBE2M	NM_003969.3		124,771,5608	AA,AG,GG		0.1744,22.7871,7.8348		141/184	59067585	1019,11987	2203	4300	6503	SO:0001819	synonymous_variant	9040	exon6			GTCCTCGGGGTTG	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.423C>T	19.37:g.59067585G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	131	54	0.412214	NM_003969	O76069|Q8VC50	Silent	SNP	ENST00000253023.3	37	CCDS12987.1																																																																																			G|0.907;A|0.093	0.093	strong		0.617	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		A	59067585	G	A	59067585	2	1	22	1	0	0	0	0	0	0	0	1	16862	1103	39	1		1	UBE2M	19	59067585	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	44372	59067585	61398	10333	15441										
MZF1	7593	hgsc.bcm.edu	37	chr19	59074429	59074429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacggccgctcctcggtgtgCgtaagctggtggcgcagcag	16	12	0	0	rs2228162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59074429C>T	ENST00000215057.2	-	6	1775	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Silent_p.T405T|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	405					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCTCGGTGTGCGTAAGCTGGT	0.677													.|||	966	0.192891	0.4198	0.1916	5008	,	,		15967	0.1121		0.0457	False		,,,				2504	0.1217				p.T405T		Atlas-SNP	.											.	MZF1	37	.	0			c.G1215A						PASS	.	C	,	1606,2782		300,1006,888	17	17	17		1215,1215	-3	0.9	19	dbSNP_98	17	332,8206		13,306,3950	no	coding-synonymous,coding-synonymous	MZF1	NM_003422.2,NM_198055.1	,	313,1312,4838	TT,TC,CC		3.8885,36.5998,14.993	,	405/735,405/735	59074429	1938,10988	2194	4269	6463	SO:0001819	synonymous_variant	7593	exon6			GGTGTGCGTAAGC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1215G>A	19.37:g.59074429C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	25	11	0.44	NM_198055	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	CCDS12988.1																																																																																			C|0.839;T|0.161	0.161	strong		0.677	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		T	59074429	C	T	59074429	2	4	22	1	0	0	0	0	0	0	0	1	10108	755	27	1		1	MZF1	19	59074429	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6844	59074429	54554	10334	15442										
MZF1	7593	hgsc.bcm.edu	37	chr19	59074653	59074653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcgccagcgggtggtgaTcagagcagggcccacacccc	16	14	1	2	rs4756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr19:59074653T>C	ENST00000215057.2	-	6	1551	c.991A>G	c.(991-993)Atc>Gtc	p.I331V	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.I331V|MZF1_ENST00000594234.1_Intron	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	331			I -> V (in dbSNP:rs4756).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGGGTGGTGATCAGAGCAGGG	0.701													.|||	1870	0.373403	0.6649	0.3646	5008	,	,		15453	0.1677		0.2634	False		,,,				2504	0.3108				p.I331V		Atlas-SNP	.											.	MZF1	37	.	0			c.A991G						PASS	.	C	VAL/ILE,VAL/ILE	2678,1710		866,946,382	12	14	13		991,991	2.5	0	19	dbSNP_52	13	1841,6751		208,1425,2663	yes	missense,missense	MZF1	NM_003422.2,NM_198055.1	29,29	1074,2371,3045	CC,CT,TT		21.4269,38.9699,34.8151	benign,benign	331/735,331/735	59074653	4519,8461	2194	4296	6490	SO:0001583	missense	7593	exon6			TGGTGATCAGAGC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.991A>G	19.37:g.59074653T>C	ENSP00000215057:p.Ile331Val	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	49	0.960784	NM_198055	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	733	0.3356227106227106	337	0.6849593495934959	114	0.3149171270718232	90	0.15734265734265734	192	0.2532981530343008	.	0.815	-0.750491	0.03041	0.610301	0.214269	ENSG00000099326	ENST00000215057	T	0.05855	3.38	3.56	2.52	0.30459	.	1.488780	0.04858	N	0.443602	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	9	0.28530	T	0.3	-0.5135	3.3254	0.07064	0.203:0.5745:0.0:0.2225	rs4756;rs3167718;rs3764524;rs4756	331	P28698	MZF1_HUMAN	V	331	ENSP00000215057:I331V	ENSP00000215057:I331V	I	-	1	0	MZF1	63766465	0.000000	0.05858	0.005000	0.12908	0.271000	0.26615	0.024000	0.13555	0.498000	0.27948	-0.349000	0.07799	ATC	T|0.658;C|0.342	0.342	strong		0.701	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		C	59074653	T	C	59074653	3	2	22	1	0	0	0	0	1	0	0	0	10108	1435	50	2	1217	2	MZF1	19	59074653	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	224	59074653	54330	10335	15443										
DEFB126	81623	hgsc.bcm.edu	37	chr20	126156	126159	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatggttgggcaatgtgcggCaaacaaagggactgctgtgt					rs200807952|rs397788846|rs11467497		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAAA	CAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:126156_126159delCAAA	ENST00000382398.3	+	2	419_422	c.159_162delCAAA	c.(157-162)ggcaaafs	p.GK53fs	DEFB126_ENST00000542572.1_Intron	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	53					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)		p.K54K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAATGTGCGGCAAACAAAGGGACT	0.417																																					p.53_54del		Pindel,Atlas-Indel	.											.	DEFB126	52	.	1	Substitution - coding silent(1)	lung(1)	c.158_161del						PASS	.			1092,3172		148,796,1188						-7.1	0		dbSNP_120	185	1309,6945		109,1091,2927	yes	frameshift	DEFB126	NM_030931.2		257,1887,4115	A1A1,A1R,RR		15.859,25.6098,19.1804				2401,10117				SO:0001589	frameshift_variant	81623	exon2			.		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"Defensins, beta"	15900	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 8"	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.159_162delCAAA	20.37:g.126160_126163delCAAA	ENSP00000371835:p.Gly53fs	Somatic	152	.	.		WXS	Illumina HiSeq	Phase_I	110	44	0.4	NM_030931	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																			CAAA|0.834;-|0.166	0.166	strong		0.417	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		-	126159	CAAA	-	126156	7	5	22	1	0	1	0	1	0	0	0	0	4412	697	25	0	165	0	DEFB126	20	126156	Frame_Shift_Del	DEL	CAAA	TCGA-G8-6324-01A-11D-2210-10		126156	62899364	10336	15444										
DEFB129	140881	hgsc.bcm.edu	37	chr20	210306	210306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttctaccaagagtaacaCcaaagaaagcagagattctg	7	9	2	3	rs1053783	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:210306C>G	ENST00000246105.4	+	2	477	c.446C>G	c.(445-447)aCc>aGc	p.T149S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	149			T -> S (in dbSNP:rs1053783).		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAGTAACACCAAAGAAAGC	0.502													C|||	1248	0.249201	0.469	0.1196	5008	,	,		18729	0.2351		0.0915	False		,,,				2504	0.2209				p.T149S		Atlas-SNP	.											.	DEFB129	24	.	0			c.C446G						PASS	.	C	SER/THR	1840,2566	536.8+/-374.6	389,1062,752	136	123	127		446	2.3	0	20	dbSNP_86	127	774,7826	183.5+/-231.7	37,700,3563	yes	missense	DEFB129	NM_080831.3	58	426,1762,4315	GG,GC,CC		9.0,41.7612,20.0984	probably-damaging	149/184	210306	2614,10392	2203	4300	6503	SO:0001583	missense	140881	exon2			GTAACACCAAAGA	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.446C>G	20.37:g.210306C>G	ENSP00000246105:p.Thr149Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	89	43	0.483146	NM_080831	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	459	0.21016483516483517	222	0.45121951219512196	43	0.11878453038674033	127	0.22202797202797203	67	0.08839050131926121	C	14.43	2.533782	0.45073	0.417612	0.09	ENSG00000125903	ENST00000246105	T	0.38401	1.14	4.25	2.27	0.28462	.	0.739381	0.12150	N	0.494997	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	P	0.41978	0.767	B	0.33196	0.159	T	0.48175	-0.9058	9	0.49607	T	0.09	-9.4267	6.8928	0.24238	0.0:0.7886:0.0:0.2114	rs1053783;rs3194381;rs52805850;rs59902862;rs1053783	149	Q9H1M3	DB129_HUMAN	S	149	ENSP00000246105:T149S	ENSP00000246105:T149S	T	+	2	0	DEFB129	158306	0.001000	0.12720	0.018000	0.16275	0.084000	0.17831	0.085000	0.14912	0.725000	0.32318	0.462000	0.41574	ACC	C|0.798;G|0.202	0.202	strong		0.502	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		G	210306	C	G	210306	3	3	22	1	0	0	0	0	1	0	0	0	4415	507	18	4	452	4	DEFB129	20	210306	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	84150	210306	62815214	10337	15445										
C20orf96	140680	hgsc.bcm.edu	37	chr20	259818	259818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcgggtctcaccgccaGggtgtcctgctgctgcagca	14	15	1	0	rs6035541	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:259818G>A	ENST00000360321.2	-	5	598	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	C20orf96_ENST00000382369.5_Silent_p.L119L|C20orf96_ENST00000400269.3_Silent_p.L96L	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	154										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTCACCGCCAGGGTGTCCTGC	0.697													G|||	1490	0.297524	0.2088	0.2622	5008	,	,		5208	0.3304		0.3559	False		,,,				2504	0.3487				p.L154L		Atlas-SNP	.											C20orf96,NS,carcinoma,0,1	C20orf96	28	1	0			c.C460T						PASS	.	G	,	1030,3376	370.5+/-319.6	120,790,1293	72	53	59		457,460	-3.6	0	20	dbSNP_114	59	3286,5314	473.6+/-368.6	630,2026,1644	no	coding-synonymous,coding-synonymous	C20orf96	NM_080571.1,NM_153269.2	,	750,2816,2937	AA,AG,GG		38.2093,23.3772,33.1847	,	153/363,154/364	259818	4316,8690	2203	4300	6503	SO:0001819	synonymous_variant	140680	exon5			CCGCCAGGGTGTC	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.460C>T	20.37:g.259818G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	35	19	0.542857	NM_153269	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	CCDS12994.1																																																																																			G|0.679;A|0.321	0.321	strong		0.697	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		A	259818	G	A	259818	2	1	22	1	0	0	0	0	0	0	0	1	2122	991	35	2		2	C20orf96	20	259818	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49512	259818	62765702	10338	15446										
NRSN2	80023	hgsc.bcm.edu	37	chr20	330408	330408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggactgtgcaggcactgctCtcagcgacgaccctgaggga	14	12	1	1	rs11556643	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:330408C>G	ENST00000382291.3	+	3	361	c.121C>G	c.(121-123)Ctc>Gtc	p.L41V	RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000382285.2_Missense_Mutation_p.L41V|NRSN2_ENST00000608736.1_Missense_Mutation_p.L41V|NRSN2_ENST00000492242.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	41			L -> V (in dbSNP:rs11556643).			integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				AGGCACTGCTCTCAGCGACGA	0.642													C|||	635	0.126797	0.3222	0.0663	5008	,	,		15562	0.0119		0.0457	False		,,,				2504	0.1074				p.L41V		Atlas-SNP	.											.	NRSN2	20	.	0			c.C121G						PASS	.	C	VAL/LEU	1219,3187	416.5+/-337.6	182,855,1166	59	57	58		121	4.2	0.7	20	dbSNP_120	58	483,8117	139.8+/-196.4	15,453,3832	yes	missense	NRSN2	NM_024958.2	32	197,1308,4998	GG,GC,CC		5.6163,27.6668,13.0863	probably-damaging	41/205	330408	1702,11304	2203	4300	6503	SO:0001583	missense	80023	exon3			ACTGCTCTCAGCG	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.121C>G	20.37:g.330408C>G	ENSP00000371728:p.Leu41Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	33	0.375	NM_024958	A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	CCDS12996.1	208	0.09523809523809523	143	0.29065040650406504	20	0.055248618784530384	7	0.012237762237762238	38	0.05013192612137203	C	10.27	1.305091	0.23736	0.276668	0.056163	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.17854	2.25;2.25	4.25	4.25	0.50352	.	0.422192	0.22997	N	0.053131	T	0.00012	0.0000	L	0.54323	1.7	0.36941	P	0.10761500000000002	D	0.67145	0.996	D	0.79108	0.992	T	0.31223	-0.9951	9	0.39692	T	0.17	-26.8864	12.0091	0.53276	0.0:1.0:0.0:0.0	rs11556643;rs60937200	41	Q9GZP1	NRSN2_HUMAN	V	41	ENSP00000371728:L41V;ENSP00000371722:L41V	ENSP00000371722:L41V	L	+	1	0	NRSN2	278408	0.922000	0.31269	0.665000	0.29768	0.422000	0.31414	1.965000	0.40471	2.177000	0.69029	0.643000	0.83706	CTC	C|0.879;G|0.121	0.121	strong		0.642	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		G	330408	C	G	330408	3	3	22	1	0	0	0	0	1	0	0	0	10663	913	32	4	123	4	NRSN2	20	330408	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70590	330408	62695112	10339	15447										
RBCK1	10616	hgsc.bcm.edu	37	chr20	398175	398175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgttctctgcaggctgtGggtgagcgtggaggatgctc	17	8	1	1	rs143804674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:398175G>C	ENST00000356286.5	+	3	878	c.173G>C	c.(172-174)tGg>tCg	p.W58S	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.W16S	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	58	Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGCAGGCTGTGGGTGAGCGTG	0.587																																					p.W58S		Atlas-SNP	.											.	RBCK1	38	.	0			c.G173C						PASS	.	G	SER/TRP,SER/TRP	5,4401	9.9+/-24.2	0,5,2198	66	55	58		47,173	4.2	1	20	dbSNP_134	58	0,8600		0,0,4300	yes	missense,missense	RBCK1	NM_006462.4,NM_031229.2	177,177	0,5,6498	CC,CG,GG		0.0,0.1135,0.0384	benign,benign	16/469,58/511	398175	5,13001	2203	4300	6503	SO:0001583	missense	10616	exon3			GGCTGTGGGTGAG	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.173G>C	20.37:g.398175G>C	ENSP00000348632:p.Trp58Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	54	0.574468	NM_031229	O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.605738|2.605738	0.46527|0.46527	0.001135|0.001135	0.0|0.0	ENSG00000125826|ENSG00000125826	ENST00000414880|ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243	.|T;T;T;T	.|0.10477	.|2.87;2.87;2.87;2.87	5.12|5.12	4.17|4.17	0.49024|0.49024	.|Ubiquitin supergroup (1);	.|0.578121	.|0.16613	.|N	.|0.206802	T|T	0.09905|0.09905	0.0243|0.0243	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.19817	.|0.002;0.034;0.039	.|B;B;B	.|0.21708	.|0.002;0.036;0.01	T|T	0.08391|0.08391	-1.0724|-1.0724	5|10	.|0.12430	.|T	.|0.62	-21.4854|-21.4854	9.3395|9.3395	0.38071|0.38071	0.0967:0.0:0.9033:0.0|0.0967:0.0:0.9033:0.0	.|.	.|48;16;58	.|B4E0F5;Q9BYM8-3;Q9BYM8	.|.;.;HOIL1_HUMAN	R|S	91|58;58;57;16;58;99	.|ENSP00000415080:W58S;ENSP00000348632:W58S;ENSP00000387799:W57S;ENSP00000254960:W16S	.|ENSP00000254960:W16S	G|W	+|+	1|2	0|0	RBCK1|RBCK1	346175|346175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	1.134000|1.134000	0.31442|0.31442	1.374000|1.374000	0.46228|0.46228	0.557000|0.557000	0.71058|0.71058	GGG|TGG	G|1.000;C|0.000	0.000	strong		0.587	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		C	398175	G	C	398175	3	2	22	1	0	0	0	0	1	0	0	0	13107	1357	47	4	202	4	RBCK1	20	398175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	67767	398175	62627345	10340	15448										
C20orf54	113278	hgsc.bcm.edu	37	chr20	744510	744510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggacaaagaacgccacGaggcagcaggccatcatgat	13	10	1	2	rs3746806	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:744510G>A	ENST00000217254.7	-	3	946	c.705C>T	c.(703-705)ctC>ctT	p.L235L	SLC52A3_ENST00000381944.3_Silent_p.L235L|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	235					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										AGAACGCCACGAGGCAGCAGG	0.622																																					p.L235L		Atlas-SNP	.											C20orf54,colon,carcinoma,-2,1	.	.	1	0			c.C705T						PASS	.	G		140,4266	98.9+/-137.6	3,134,2066	80	72	75		705	0.5	0	20	dbSNP_107	75	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	C20orf54	NM_033409.3		3,137,6363	AA,AG,GG		0.0349,3.1775,1.0995		235/470	744510	143,12863	2203	4300	6503	SO:0001819	synonymous_variant	113278	exon3			CGCCACGAGGCAG	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.705C>T	20.37:g.744510G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																			A|0.009;C|0.000;G|0.991	0.009	strong		0.622	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		A	744510	G	A	744510	2	1	22	1	0	0	0	0	0	0	0	1	2114	1045	37	1		1	C20orf54	20	744510	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	346335	744510	62281010	10341	15449										
C20orf54	113278	hgsc.bcm.edu	37	chr20	744570	744570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaggggtgagaagtgggcGggaaggtagcggctctccag	19	8	1	1	rs6054605	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:744570G>A	ENST00000217254.7	-	3	886	c.645C>T	c.(643-645)ccC>ccT	p.P215P	SLC52A3_ENST00000381944.3_Silent_p.P215P|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	215					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										AGAAGTGGGCGGGAAGGTAGC	0.607													G|||	692	0.138179	0.0522	0.072	5008	,	,		18546	0.4534		0.0497	False		,,,				2504	0.0675				p.P215P		Atlas-SNP	.											.	.	.	.	0			c.C645T						PASS	.	G		199,4207	121.3+/-158.8	4,191,2008	57	49	52		645	-9.9	0	20	dbSNP_114	52	437,8163	131.5+/-189.3	7,423,3870	no	coding-synonymous	C20orf54	NM_033409.3		11,614,5878	AA,AG,GG		5.0814,4.5166,4.8901		215/470	744570	636,12370	2203	4300	6503	SO:0001819	synonymous_variant	113278	exon3			GTGGGCGGGAAGG	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.645C>T	20.37:g.744570G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	104	49	0.471154	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																			G|0.908;A|0.092	0.092	strong		0.607	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		A	744570	G	A	744570	2	1	22	1	0	0	0	0	0	0	0	1	2114	1103	39	1		1	C20orf54	20	744570	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	60	744570	62280950	10342	15450										
FAM110A	83541	hgsc.bcm.edu	37	chr20	825579	825579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaaaccgagcgctgtggaGcgcctggaggccgacaaggc	17	12	0	0	rs8124809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:825579G>A	ENST00000304189.2	+	3	513	c.132G>A	c.(130-132)gaG>gaA	p.E44E	FAM110A_ENST00000541082.1_Silent_p.E44E|FAM110A_ENST00000381939.1_Silent_p.E44E|FAM110A_ENST00000246100.3_Silent_p.E44E|FAM110A_ENST00000381941.3_Silent_p.E44E			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	44						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						GCGCTGTGGAGCGCCTGGAGG	0.687													G|||	73	0.0145767	0.053	0.0043	5008	,	,		11046	0.0		0.0	False		,,,				2504	0.0				p.E44E		Atlas-SNP	.											.	FAM110A	18	.	0			c.G132A						PASS	.	G	,,	204,4158		1,202,1978	12	12	12		132,132,132	4	1	20	dbSNP_116	12	3,8543		0,3,4270	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM110A	NM_001042353.1,NM_031424.4,NM_207121.3	,,	1,205,6248	AA,AG,GG		0.0351,4.6768,1.6037	,,	44/296,44/296,44/296	825579	207,12701	2181	4273	6454	SO:0001819	synonymous_variant	83541	exon2			TGTGGAGCGCCTG	BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"chromosome 20 open reading frame 55"	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.132G>A	20.37:g.825579G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	157	86	0.547771	NM_207121	D3DVW2|Q5R1M7	Silent	SNP	ENST00000304189.2	37	CCDS13008.1																																																																																			A|0.020;C|0.000;G|0.979	0.020	strong		0.687	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424		A	825579	G	A	825579	2	1	22	1	0	0	0	0	0	0	0	1	5396	962	34	2		2	FAM110A	20	825579	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81009	825579	62199941	10343	15451										
ANGPT4	51378	hgsc.bcm.edu	37	chr20	854973	854973	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagacagtggtcgttgtcTgagtcaagggtgctaaagct	14	7	2	2	rs62641668	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:854973T>G	ENST00000381922.3	-	8	1407	c.1305A>C	c.(1303-1305)tcA>tcC	p.S435S	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	435	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTCGTTGTCTGAGTCAAGGG	0.612													T|||	75	0.014976	0.0416	0.0144	5008	,	,		20786	0.004		0.006	False		,,,				2504	0.0				p.S435S	Pancreas(181;481 2077 3259 31286 49856)	Atlas-SNP	.											ANGPT4,bladder,carcinoma,-1,1	ANGPT4	77	1	0			c.A1305C						PASS	.	T		163,4243	109.9+/-148.2	5,153,2045	123	93	103		1305	-10.3	0	20	dbSNP_129	103	52,8548	32.8+/-85.7	0,52,4248	no	coding-synonymous	ANGPT4	NM_015985.2		5,205,6293	GG,GT,TT		0.6047,3.6995,1.6531		435/504	854973	215,12791	2203	4300	6503	SO:0001819	synonymous_variant	51378	exon8			GTTGTCTGAGTCA	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1305A>C	20.37:g.854973T>G		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	216	103	0.476852	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			T|0.983;G|0.017	0.017	strong		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		G	854973	T	G	854973	2	3	22	1	0	0	0	0	0	0	0	1	612	1567	55	5		5	ANGPT4	20	854973	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	29394	854973	62170547	10344	15452										
ANGPT4	51378	hgsc.bcm.edu	37	chr20	860426	860426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagttccgctgaaaattcacGgtgccattctcacggcgctg	10	13	2	1	rs61737018	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:860426G>A	ENST00000381922.3	-	6	1119	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	ANGPT4_ENST00000546022.1_Silent_p.T339T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	339	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GAAAATTCACGGTGCCATTCT	0.612													G|||	745	0.148762	0.2632	0.0663	5008	,	,		14818	0.1062		0.0746	False		,,,				2504	0.1728				p.T339T	Pancreas(181;481 2077 3259 31286 49856)	Atlas-SNP	.											.	ANGPT4	77	.	0			c.C1017T						PASS	.	G		951,3455	359.4+/-314.8	98,755,1350	83	75	78		1017	-8.3	0	20	dbSNP_129	78	672,7928	169.4+/-220.8	20,632,3648	no	coding-synonymous	ANGPT4	NM_015985.2		118,1387,4998	AA,AG,GG		7.814,21.5842,12.4789		339/504	860426	1623,11383	2203	4300	6503	SO:0001819	synonymous_variant	51378	exon6			ATTCACGGTGCCA	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1017C>T	20.37:g.860426G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	16	0.372093	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			G|0.879;A|0.121	0.121	strong		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	860426	G	A	860426	2	1	22	1	0	0	0	0	0	0	0	1	612	1103	39	1		1	ANGPT4	20	860426	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5453	860426	62165094	10345	15453										
ANGPT4	51378	hgsc.bcm.edu	37	chr20	861853	861853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggacacctggatggtgtaGacaccactggcactggcccc	12	13	0	1	rs6086328	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:861853G>A	ENST00000381922.3	-	5	1014	c.912C>T	c.(910-912)gtC>gtT	p.V304V	ANGPT4_ENST00000546022.1_Silent_p.V304V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	304	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGATGGTGTAGACACCACTGG	0.572													G|||	335	0.066893	0.2405	0.0216	5008	,	,		18573	0.0		0.002	False		,,,				2504	0.0				p.V304V	Pancreas(181;481 2077 3259 31286 49856)	Atlas-SNP	.											.	ANGPT4	77	.	0			c.C912T						PASS	.	G		986,3420	370.0+/-319.4	106,774,1323	74	62	66		912	4.9	1	20	dbSNP_114	66	14,8586	9.1+/-34.3	0,14,4286	no	coding-synonymous	ANGPT4	NM_015985.2		106,788,5609	AA,AG,GG		0.1628,22.3786,7.6888		304/504	861853	1000,12006	2203	4300	6503	SO:0001819	synonymous_variant	51378	exon5			GGTGTAGACACCA	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.912C>T	20.37:g.861853G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	111	48	0.432432	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			A|0.066;G|0.934	0.066	strong		0.572	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	861853	G	A	861853	2	1	22	1	0	0	0	0	0	0	0	1	612	929	33	2		2	ANGPT4	20	861853	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1427	861853	62163667	10346	15454										
PSMF1	9491	hgsc.bcm.edu	37	chr20	1099523	1099523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggtgacacacggttactTcggcttgggtgtcggtgacc	15	9	0	2	rs1803415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1099523T>G	ENST00000335877.6	+	1	283	c.107T>G	c.(106-108)tTc>tGc	p.F36C	PSMF1_ENST00000333082.3_Missense_Mutation_p.F36C|PSMF1_ENST00000246015.4_Missense_Mutation_p.F36C|PSMF1_ENST00000438768.2_Missense_Mutation_p.F36C|PSMF1_ENST00000381898.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	36	Important for homodimerization and interaction with FBXO7.		F -> C (in dbSNP:rs1803415). {ECO:0000269|PubMed:10764772, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CACGGTTACTTCGGCTTGGGT	0.632													A|||	3655	0.729832	0.8071	0.7723	5008	,	,		15275	0.4583		0.838	False		,,,				2504	0.7638				p.F36C		Atlas-SNP	.											.	PSMF1	27	.	0			c.T107G						PASS	.	A	CYS/PHE,CYS/PHE	3576,830		1446,684,73	81	75	77		107,107	1.9	1	20	dbSNP_89	77	7131,1469		2954,1223,123	yes	missense,missense	PSMF1	NM_006814.3,NM_178578.2	205,205	4400,1907,196	GG,GT,TT		17.0814,18.8379,17.6765	benign,benign	36/272,36/272	1099523	10707,2299	2203	4300	6503	SO:0001583	missense	9491	exon1			GTTACTTCGGCTT	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.107T>G	20.37:g.1099523T>G	ENSP00000338039:p.Phe36Cys	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	1582	0.7243589743589743	407	0.8272357723577236	287	0.7928176795580111	257	0.4493006993006993	631	0.8324538258575198	A	0.455	-0.892019	0.02491	0.811621	0.829186	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.26	1.94	0.25998	.	0.565491	0.15873	N	0.240441	T	0.00012	0.0000	N	0.08118	0	0.20703	P	0.999864573	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.11842	-1.0571	9	0.46703	T	0.11	-3.4805	3.0951	0.06307	0.5334:0.0:0.2865:0.1802	rs1803415;rs11557003;rs59237259;rs1803415	36;36;36	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	C	36	ENSP00000327704:F36C;ENSP00000371324:F36C;ENSP00000246015:F36C;ENSP00000338039:F36C;ENSP00000401404:F36C	ENSP00000246015:F36C	F	+	2	0	PSMF1	1047523	0.002000	0.14202	0.981000	0.43875	0.118000	0.20060	-0.118000	0.10692	0.206000	0.20587	-0.694000	0.03704	TTC	G|0.777;N|0.000	0.777	strong		0.632	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		G	1099523	T	G	1099523	3	3	22	1	0	0	0	0	1	0	0	0	12710	1783	62	5	109	5	PSMF1	20	1099523	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	237670	1099523	61925997	10347	15455										
PSMF1	9491	hgsc.bcm.edu	37	chr20	1106143	1106143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caactgtggtcttcccagccGggtcccaatgataagaagtc	10	12	1	2	rs35517343	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1106143G>A	ENST00000335877.6	+	2	308	c.132G>A	c.(130-132)ccG>ccA	p.P44P	PSMF1_ENST00000333082.3_Silent_p.P44P|PSMF1_ENST00000438768.2_Silent_p.P44P|PSMF1_ENST00000246015.4_Silent_p.P44P|PSMF1_ENST00000381898.4_5'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	44	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTTCCCAGCCGGGTCCCAATG	0.458													G|||	15	0.00299521	0.0113	0.0	5008	,	,		21820	0.0		0.0	False		,,,				2504	0.0				p.P44P		Atlas-SNP	.											.	PSMF1	27	.	0			c.G132A						PASS	.	G	,	61,4345	58.7+/-95.3	0,61,2142	77	70	72		132,132	-3.1	0.1	20	dbSNP_126	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PSMF1	NM_006814.3,NM_178578.2	,	0,62,6441	AA,AG,GG		0.0116,1.3845,0.4767	,	44/272,44/272	1106143	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	9491	exon2			CCAGCCGGGTCCC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.132G>A	20.37:g.1106143G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	106	52	0.490566	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	CCDS13010.1																																																																																			G|0.995;A|0.005	0.005	strong		0.458	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		A	1106143	G	A	1106143	2	1	22	1	0	0	0	0	0	0	0	1	12710	1103	39	1		1	PSMF1	20	1106143	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6620	1106143	61919377	10348	15456										
NSFL1C	55968	hgsc.bcm.edu	37	chr20	1433171	1433171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctcgccagtgaaggctTtgaaggctcctttgggcttc	12	12	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1433171T>C	ENST00000216879.4	-	7	1619	c.752A>G	c.(751-753)aAa>aGa	p.K251R	NSFL1C_ENST00000353088.2_Missense_Mutation_p.K220R|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.K253R|NSFL1C_ENST00000350991.4_Missense_Mutation_p.K253R|NSFL1C_ENST00000381658.4_Missense_Mutation_p.K140R	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	251						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						AGTGAAGGCTTTGAAGGCTCC	0.577																																					p.K251R		Atlas-SNP	.											.	NSFL1C	38	.	0			c.A752G						PASS	.						158	139	146					20																	1433171		2203	4300	6503	SO:0001583	missense	55968	exon7			AAGGCTTTGAAGG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.752A>G	20.37:g.1433171T>C	ENSP00000216879:p.Lys251Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	34	0.354167	NM_016143	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076548	0.55753	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.49432	0.79;0.78;0.78;0.82;0.78	5.13	2.85	0.33270	SEP domain (3);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.62016	1.91	0.58432	D	0.999995	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12156	0.007;0.005;0.005	T	0.30937	-0.9961	10	0.51188	T	0.08	-10.0824	8.1784	0.31296	0.0:0.294:0.0:0.706	.	220;140;251	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	R	220;253;251;140;253	ENSP00000338643:K220R;ENSP00000418529:K253R;ENSP00000216879:K251R;ENSP00000371074:K140R;ENSP00000202584:K253R	ENSP00000216879:K251R	K	-	2	0	NSFL1C	1381171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.908000	0.28545	0.503000	0.28060	0.533000	0.62120	AAA	.	.	none		0.577	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		C	1433171	T	C	1433171	3	2	22	1	0	0	0	0	1	0	0	0	10672	1841	64	2	372	2	NSFL1C	20	1433171	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	327028	1433171	61592349	10349	15457										
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1546805	1546805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcctaaacttacagtcagGccttctgtttccagcagatg	7	12	3	1	rs62623705	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1546805G>A	ENST00000381605.4	-	5	1257	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	SIRPB1_ENST00000381603.3_Missense_Mutation_p.A181V|SIRPB1_ENST00000262929.5_Missense_Mutation_p.A180V|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	398					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGTCAGGCCTTCTGTTT	0.587													.|||	295	0.0589058	0.0537	0.0576	5008	,	,		18458	0.002		0.1352	False		,,,				2504	0.047				p.A398V		Atlas-SNP	.											SIRPB1,caecum,carcinoma,-1,1	SIRPB1	83	1	0			c.C1193T						PASS	.	G	VAL/ALA,VAL/ALA	302,4104		9,284,1910	52	43	46		542,1193	-2.8	0	20	dbSNP_129	46	1097,7503		70,957,3273	yes	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	64,64	79,1241,5183	AA,AG,GG		12.7558,6.8543,10.7566	benign,benign	181/182,398/399	1546805	1399,11607	2203	4300	6503	SO:0001583	missense	10326	exon5			AGTCAGGCCTTCT	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1193C>T	20.37:g.1546805G>A	ENSP00000371018:p.Ala398Val	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	73	30	0.410959	NM_006065	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	159	0.07280219780219781	25	0.0508130081300813	22	0.06077348066298342	2	0.0034965034965034965	110	0.14511873350923482	.	13.59	2.281769	0.40394	0.068543	0.127558	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02837	4.14;4.5;4.51	3.3	-2.85	0.05734	.	1.026210	0.07809	N	0.957890	T	0.00039	0.0001	L	0.56769	1.78	0.80722	P	0.0	B;B	0.34290	0.01;0.447	B;B	0.30646	0.005;0.118	T	0.40979	-0.9534	9	0.87932	D	0	.	0.2986	0.00269	0.2264:0.1687:0.2622:0.3427	.	398;181	O00241;O00241-2	SIRB1_HUMAN;.	V	398;181;180	ENSP00000371018:A398V;ENSP00000371016:A181V;ENSP00000262929:A180V	ENSP00000262929:A180V	A	-	2	0	SIRPB1	1494805	0.037000	0.19845	0.001000	0.08648	0.283000	0.27025	0.143000	0.16115	-0.434000	0.07275	0.563000	0.77884	GCC	G|0.904;A|0.096	0.096	strong		0.587	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1546805	G	A	1546805	3	1	22	1	0	0	0	0	1	0	0	0	14333	1203	42	2	7	2	SIRPB1	20	1546805	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	113634	1546805	61478715	10350	15458										
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1546906	1546906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggagcagtaggagccagCgctgcttctggaaatcaggg	16	8	2	0	rs11907593	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1546906C>T	ENST00000381605.4	-	5	1156	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	SIRPB1_ENST00000262929.5_Silent_p.A146A|SIRPB1_ENST00000381603.3_Silent_p.A147A|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	364					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGGAGCCAGCGCTGCTTCTG	0.607													.|||	92	0.0183706	0.0666	0.0058	5008	,	,		16446	0.0		0.0	False		,,,				2504	0.0				p.A364A		Atlas-SNP	.											.	SIRPB1	83	.	0			c.G1092A						PASS	.	C	,	172,4234		4,164,2035	42	35	38		441,1092	-6	0	20	dbSNP_120	38	4,8592		0,4,4294	no	coding-synonymous,coding-synonymous	SIRPB1	NM_001083910.2,NM_006065.3	,	4,168,6329	TT,TC,CC		0.0465,3.9038,1.3536	,	147/182,364/399	1546906	176,12826	2203	4298	6501	SO:0001819	synonymous_variant	10326	exon5			AGCCAGCGCTGCT	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1092G>A	20.37:g.1546906C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	51	0.69863	NM_006065	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	CCDS13019.1																																																																																			C|0.984;T|0.016	0.016	strong		0.607	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1546906	C	T	1546906	2	4	22	1	0	0	0	0	0	0	0	1	14333	755	27	1		1	SIRPB1	20	1546906	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101	1546906	61478614	10351	15459										
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1552457	1552457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgacttgagagtgaacGtccccacgggtcagcaccac	11	13	1	4	rs16995332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1552457G>A	ENST00000381605.4	-	3	724	c.660C>T	c.(658-660)gaC>gaT	p.D220D	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	220	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GAGAGTGAACGTCCCCACGGG	0.587													.|||	341	0.0680911	0.0832	0.0576	5008	,	,		20250	0.002		0.1382	False		,,,				2504	0.0511				p.D220D		Atlas-SNP	.											.	SIRPB1	83	.	0			c.C660T						PASS	.	G	,	407,3999		16,375,1812	161	140	147		,660	-2.7	0	20	dbSNP_123	147	1134,7466		74,986,3240	no	intron,coding-synonymous	SIRPB1	NM_001083910.2,NM_006065.3	,	90,1361,5052	AA,AG,GG		13.186,9.2374,11.8484	,	,220/399	1552457	1541,11465	2203	4300	6503	SO:0001819	synonymous_variant	10326	exon3			GTGAACGTCCCCA	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.660C>T	20.37:g.1552457G>A		Somatic	672	0	0		WXS	Illumina HiSeq	Phase_I	688	344	0.5	NM_006065	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	CCDS13019.1																																																																																			G|0.896;A|0.104	0.104	strong		0.587	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1552457	G	A	1552457	2	1	22	1	0	0	0	0	0	0	0	1	14333	1136	40	1		1	SIRPB1	20	1552457	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5551	1552457	61473063	10352	15460										
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592120	1592120	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggtgatgttactgatgcGgatggaaaagtccatgttgt	15	4	0	2	rs1135201		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1592120G>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R106S|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R106S|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTACTGATGCGGATGGAAAAG	0.512																																					p.R106S		Atlas-SNP	.											SIRPB1_ENST00000279477,NS,carcinoma,0,1	SIRPB1	83	1	0			c.C316A						scavenged	.						105	121	117					20																	1592120		448	1337	1785	SO:0001627	intron_variant	10326	exon2			TGATGCGGATGGA	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8394C>A	20.37:g.1592120G>T		Somatic	367	1	0.0027248		WXS	Illumina HiSeq	Phase_I	371	17	0.0458221	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	560	0.2564102564102564	150	0.3048780487804878	74	0.20441988950276244	183	0.31993006993006995	153	0.20184696569920843	.	2.402	-0.337253	0.05278	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.65364	-0.15	2.65	-2.79	0.05841	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52266	1.64	0.34870	D	0.743495	B	0.31435	0.323	B	0.31869	0.137	T	0.37753	-0.9692	9	0.37606	T	0.19	.	4.2858	0.10855	0.1304:0.0:0.2968:0.5727	rs1135201;rs3197735	106	Q5TFQ8	SIRBL_HUMAN	S	106	ENSP00000279477:R106S	ENSP00000279477:R106S	R	-	1	0	SIRPB1	1540120	0.081000	0.21417	0.142000	0.22268	0.020000	0.10135	0.000000	0.12993	-0.294000	0.08973	-2.062000	0.00397	CGC	G|0.744;T|0.256	0.256	strong		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1592120	G	T	1592120	1	4	22	0	1	0	0	0	0	0	0	0	14333	1116	39	4		4	SIRPB1	20	1592120	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	39663	1592120	61433400	10353	15461			37	66		5	5	193	N	T_G_C_A	8.439515e-07
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592215	1592215	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattgtagattaattcccggCctggtccagctcctctgaac	9	12	1	2	rs41289057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1592215C>G	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													c|||	3213	0.641573	0.7254	0.5029	5008	,	,		7138	0.7351		0.4781	False		,,,				2504	0.6984				p.G74A		Atlas-SNP	.											.	SIRPB1	83	.	0			c.G221C						PASS	.						66	79	75					20																	1592215		452	1342	1794	SO:0001627	intron_variant	10326	exon2			TCCCGGCCTGGTC	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8299G>C	20.37:g.1592215C>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	301	41	0.136213	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	821	0.3759157509157509	204	0.4146341463414634	117	0.32320441988950277	293	0.5122377622377622	207	0.27308707124010556	.	5.490	0.275498	0.10403	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.66995	-0.24	2.75	-5.49	0.02584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.09022	0.002	B	0.13407	0.009	T	0.35151	-0.9800	8	0.36615	T	0.2	.	9.7994	0.40755	0.0:0.6565:0.0:0.3435	rs41289057	74	Q5TFQ8	SIRBL_HUMAN	A	74	ENSP00000279477:G74A	ENSP00000279477:G74A	G	-	2	0	SIRPB1	1540215	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.679000	0.01940	-1.538000	0.01734	-0.474000	0.04947	GGC	C|0.624;G|0.376	0.376	strong		0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		G	1592215	C	G	1592215	1	3	22	0	1	0	0	0	0	0	0	0	14333	739	26	4		4	SIRPB1	20	1592215	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	95	1592215	61433305	10354	15462			37	66		5	5	193	N	T_G_C_A	8.439515e-07
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592265	1592265	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccccacagggatcagggaAgtcacagtgcagtgcagagt	15	10	2	1	rs45471597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1592265A>G	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Silent_p.T57T|SIRPB1_ENST00000279477.7_Silent_p.T57T|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGATCAGGGAAGTCACAGTGC	0.557													N|||	3350	0.66893	0.739	0.5331	5008	,	,		8651	0.7669		0.5318	False		,,,				2504	0.7106				p.T57T		Atlas-SNP	.											.	SIRPB1	83	.	0			c.T171C						PASS	.						64	72	70					20																	1592265		447	1337	1784	SO:0001627	intron_variant	10326	exon2			CAGGGAAGTCACA	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8249T>C	20.37:g.1592265A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	206	65	0.315534	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	CCDS13019.1																																																																																			A|0.417;G|0.583	0.583	strong		0.557	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		G	1592265	A	G	1592265	1	3	22	0	1	0	0	0	0	0	0	0	14333	59	3	3		3	SIRPB1	20	1592265	Intron	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50	1592265	61433255	10355	15463			37	66		5	5	193	N	T_G_C_A	8.439515e-07
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592284	1592284	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtcacagtgcagtgcagaGtggccgactctccagctgca	12	12	2	1	rs1135196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1592284G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.T51I|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T51I|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTGCAGAGTGGCCGACTC	0.552													g|||	3350	0.66893	0.739	0.5331	5008	,	,		8196	0.7669		0.5318	False		,,,				2504	0.7106				p.T51I		Atlas-SNP	.											.	SIRPB1	83	.	0			c.C152T						PASS	.						59	67	65					20																	1592284		446	1337	1783	SO:0001627	intron_variant	10326	exon2			TGCAGAGTGGCCG	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8230C>T	20.37:g.1592284G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	173	58	0.33526	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	1306	0.597985347985348	353	0.717479674796748	188	0.5193370165745856	406	0.7097902097902098	359	0.4736147757255937	.	14.38	2.519337	0.44866	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.02890	4.12	2.61	1.63	0.23807	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	M	0.70275	2.135	0.09310	P	0.99999999105145	P	0.49862	0.929	P	0.58077	0.832	T	0.10177	-1.0641	8	0.59425	D	0.04	.	5.1542	0.15027	0.1762:0.0:0.8238:0.0	rs1135196;rs3197727	51	Q5TFQ8	SIRBL_HUMAN	I	51	ENSP00000279477:T51I	ENSP00000279477:T51I	T	-	2	0	SIRPB1	1540284	0.961000	0.32948	0.830000	0.32933	0.019000	0.09904	0.679000	0.25291	0.406000	0.25560	0.205000	0.17691	ACT	G|0.420;A|0.580	0.580	strong		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1592284	G	A	1592284	1	1	22	0	1	0	0	0	0	0	0	0	14333	1029	36	2		2	SIRPB1	20	1592284	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19	1592284	61433236	10356	15464			37	66		5	5	193	N	T_G_C_A	8.439515e-07
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592312	1592312	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccagctgcaactgataTggacttgtcaggctgaatca	9	11	3	2	rs72484087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1592312T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.I42V|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.I42V	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAACTGATATGGACTTGTCA	0.557													N|||	3317	0.66234	0.7352	0.5245	5008	,	,		6786	0.7639		0.5149	False		,,,				2504	0.7086				p.I42V		Atlas-SNP	.											.	SIRPB1	83	.	0			c.A124G						PASS	.						42	52	50					20																	1592312		444	1336	1780	SO:0001627	intron_variant	10326	exon2			CTGATATGGACTT	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8202A>G	20.37:g.1592312T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	140	40	0.285714	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	1213	0.5554029304029304	332	0.6747967479674797	169	0.46685082872928174	390	0.6818181818181818	322	0.42480211081794195	.	0.004	-2.307917	0.00240	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.61510	0.1	2.61	0.574	0.17368	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00972	-1.085	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	8	0.02654	T	1	.	5.5118	0.16884	0.0:0.5769:0.0:0.4231	.	42	Q5TFQ8	SIRBL_HUMAN	V	42	ENSP00000279477:I42V	ENSP00000279477:I42V	I	-	1	0	SIRPB1	1540312	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	-0.280000	0.09154	-2.568000	0.00172	ATA	T|0.465;C|0.535	0.535	strong		0.557	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		C	1592312	T	C	1592312	1	2	22	0	1	0	0	0	0	0	0	0	14333	1464	51	2		2	SIRPB1	20	1592312	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	28	1592312	61433208	10357	15465			37	66		5	5	193	N	T_G_C_A	8.439515e-07
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895842	1895842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgctgcactgcgacctcTctgatccctgtggggcccat	11	16	1	1	rs17853847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1895842T>C	ENST00000358771.4	+	2	329	c.177T>C	c.(175-177)tcT>tcC	p.S59S	SIRPA_ENST00000400068.3_Silent_p.S59S|SIRPA_ENST00000356025.3_Silent_p.S59S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	59	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CTGCGACCTCTCTGATCCCTG	0.582													T|||	1687	0.336861	0.1982	0.3631	5008	,	,		12012	0.5506		0.2604	False		,,,				2504	0.364				p.S59S	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											.	SIRPA	83	.	0			c.T177C						PASS	.	T	,,	134,4184		5,124,2030	56	49	51		177,177,177	0.8	0	20	dbSNP_123	51	424,7940		16,392,3774	no	coding-synonymous,coding-synonymous,coding-synonymous	SIRPA	NM_001040022.1,NM_001040023.1,NM_080792.2	,,	21,516,5804	CC,CT,TT		5.0693,3.1033,4.3999	,,	59/505,59/505,59/505	1895842	558,12124	2159	4182	6341	SO:0001819	synonymous_variant	140885	exon3			GACCTCTCTGATC	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.177T>C	20.37:g.1895842T>C		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	132	9	0.0681818	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																			T|0.881;C|0.119	0.119	strong		0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1895842	T	C	1895842	2	2	22	1	0	0	0	0	0	0	0	1	14332	1538	54	3		3	SIRPA	20	1895842	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	303530	1895842	61129678	10358	15466			38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895889	1895889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcagaggagctggaccagGccgggaattaatctacaatc	12	9	2	1	rs72620874	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1895889G>C	ENST00000358771.4	+	2	376	c.224G>C	c.(223-225)gGc>gCc	p.G75A	SIRPA_ENST00000356025.3_Missense_Mutation_p.G75A|SIRPA_ENST00000400068.3_Missense_Mutation_p.G75A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	75	Ig-like V-type.		G -> A (in dbSNP:rs1057114). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G75A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGGACCAGGCCGGGAATTA	0.537													G|||	2164	0.432109	0.298	0.4553	5008	,	,		14136	0.6369		0.3588	False		,,,				2504	0.4611				p.G75A	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,right_upper_lobe,carcinoma,+1,3	SIRPA	83	3	1	Substitution - Missense(1)	pancreas(1)	c.G224C						PASS	.						68	62	64					20																	1895889		2203	4297	6500	SO:0001583	missense	140885	exon3			GACCAGGCCGGGA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.224G>C	20.37:g.1895889G>C	ENSP00000351621:p.Gly75Ala	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	211	27	0.127962	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	952	0.4358974358974359	153	0.31097560975609756	151	0.4171270718232044	373	0.6520979020979021	275	0.3627968337730871	G	8.882	0.951948	0.18431	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.66995	-0.24;-0.24;-0.24	5.11	-1.44	0.08856	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.281220	0.04967	N	0.463081	T	0.00012	0.0000	L	0.60957	1.885	0.80722	P	0.0	B;B;B	0.22851	0.0;0.076;0.001	B;B;B	0.26416	0.02;0.069;0.012	T	0.48514	-0.9029	9	0.37606	T	0.19	.	8.9336	0.35686	0.7056:0.0:0.2944:0.0	.	55;75;75	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	75	ENSP00000382941:G75A;ENSP00000348307:G75A;ENSP00000351621:G75A	ENSP00000348307:G75A	G	+	2	0	SIRPA	1843889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.791000	0.04599	-0.225000	0.09913	-0.266000	0.10368	GGC	G|0.689;C|0.311	0.311	strong		0.537	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1895889	G	C	1895889	3	2	22	1	0	0	0	0	1	0	0	0	14332	1203	42	4	230	4	SIRPA	20	1895889	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	47	1895889	61129631	10359	15467			38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895950	1895950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggtaacaactgtttcagaCctcacaaagagaaacaacat	7	10	2	2	rs138283486|rs386811661	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1895950C>G	ENST00000358771.4	+	2	437	c.285C>G	c.(283-285)gaC>gaG	p.D95E	SIRPA_ENST00000400068.3_Missense_Mutation_p.D95E|SIRPA_ENST00000356025.3_Missense_Mutation_p.D95E	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	95	Ig-like V-type.		D -> E. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CTGTTTCAGACCTCACAAAGA	0.527													C|||	1881	0.375599	0.2368	0.402	5008	,	,		14766	0.5883		0.2942	False		,,,				2504	0.409				p.D95E	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											.	SIRPA	83	.	0			c.C285G						PASS	.						128	106	113					20																	1895950		2202	4287	6489	SO:0001583	missense	140885	exon3			TTCAGACCTCACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.285C>G	20.37:g.1895950C>G	ENSP00000351621:p.Asp95Glu	Somatic	533	0	0		WXS	Illumina HiSeq	Phase_I	339	21	0.0619469	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604197	0.28534	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.64803	-0.12;-0.12;-0.12	4.78	-2.65	0.06095	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.307559	0.27012	N	0.021368	T	0.64114	0.2569	M	0.83483	2.645	0.09310	N	0.999993	B;B;P	0.43352	0.049;0.019;0.804	B;B;P	0.46049	0.211;0.01;0.502	T	0.62296	-0.6884	10	0.54805	T	0.06	.	9.4883	0.38944	0.0:0.3689:0.0:0.6311	.	75;95;95	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	E	95	ENSP00000382941:D95E;ENSP00000348307:D95E;ENSP00000351621:D95E	ENSP00000348307:D95E	D	+	3	2	SIRPA	1843950	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-1.635000	0.02018	-0.560000	0.06102	-0.266000	0.10368	GAC	C|0.693;G|0.307	0.307	strong		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895950	C	G	1895950	3	3	22	1	0	0	0	0	1	0	0	0	14332	506	18	4	291	4	SIRPA	20	1895950	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61	1895950	61129570	10360	15468			38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895963	1895963	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagacctcacaaagagaAacaacatggacttttccatc					rs373583167|rs386811662|rs17855613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1895963A>G	ENST00000358771.4	+	2	450	c.298A>G	c.(298-300)Aac>Gac	p.N100D	SIRPA_ENST00000400068.3_Missense_Mutation_p.N100D|SIRPA_ENST00000356025.3_Missense_Mutation_p.N100D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CACAAAGAGAAACAACATGGA	0.522																																					p.N100D	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,-2,4	SIRPA	83	4	0			c.A298G						scavenged	.																																			SO:0001583	missense	140885	exon3			AAGAGAAACAACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.298A>G	20.37:g.1895963A>G	ENSP00000351621:p.Asn100Asp	Somatic	558	1	0.00179211		WXS	Illumina HiSeq	Phase_I	361	24	0.066482	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430951	0.25726	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02236	4.38;4.38;4.38	5.11	-5.69	0.02428	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.03651	0.0104	L	0.55481	1.735	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.0	B;B;B	0.24701	0.004;0.055;0.007	T	0.41875	-0.9484	10	0.51188	T	0.08	.	10.2665	0.43457	0.2384:0.1377:0.6239:0.0	rs17855613	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	100	ENSP00000382941:N100D;ENSP00000348307:N100D;ENSP00000351621:N100D	ENSP00000348307:N100D	N	+	1	0	SIRPA	1843963	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.479000	0.02327	-1.294000	0.02360	-0.388000	0.06559	AAC	.	.	weak		0.522	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895963	A	G	1895963	3	3	22	1	0	0	0	0	1	0	0	0	14332	14	1	2	304	2	SIRPA	20	1895963	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13	1895963	61129557	10361	15469	331	2	38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895965	1895965	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagacctcacaaagagaaaCaacatggacttttccatccg					rs17855614|rs373583167|rs386811662	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1895965C>A	ENST00000358771.4	+	2	452	c.300C>A	c.(298-300)aaC>aaA	p.N100K	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100K|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAAAGAGAAACAACATGGACT	0.517													C|||	480	0.0958466	0.0386	0.1095	5008	,	,		14804	0.1835		0.0537	False		,,,				2504	0.1166				p.N100K	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,0,4	SIRPA	83	4	0			c.C300A						scavenged	.																																			SO:0001583	missense	140885	exon3			GAGAAACAACATG	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.300C>A	20.37:g.1895965C>A	ENSP00000351621:p.Asn100Lys	Somatic	564	0	0		WXS	Illumina HiSeq	Phase_I	362	26	0.0718232	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533326	0.27387	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02158	4.42;4.42;4.42	5.11	0.771	0.18504	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.04634	0.0126	M	0.65975	2.015	0.09310	N	1	B;B;B	0.33299	0.003;0.407;0.039	B;B;B	0.31812	0.056;0.136;0.082	T	0.44345	-0.9334	10	0.72032	D	0.01	.	8.1767	0.31285	0.0:0.4423:0.4696:0.0881	rs17855614	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	K	100	ENSP00000382941:N100K;ENSP00000348307:N100K;ENSP00000351621:N100K	ENSP00000348307:N100K	N	+	3	2	SIRPA	1843965	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.328000	0.07945	0.028000	0.15324	-0.315000	0.08773	AAC	.	.	weak		0.517	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1895965	C	A	1895965	3	1	22	1	0	0	0	0	1	0	0	0	14332	477	17	4	306	4	SIRPA	20	1895965	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	1895965	61129555	10362	15470	331	2	38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896059	1896059	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaaagggagccccgatgacGtggagtttaagtctggagca					rs386811663|rs115287948	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1896059G>A	ENST00000358771.4	+	2	546	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V132M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V132M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	132	Ig-like V-type.		V -> T (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCCGATGACGTGGAGTTTAA	0.527													G|||	2050	0.409345	0.2761	0.4222	5008	,	,		15841	0.625		0.3171	False		,,,				2504	0.453				p.V132M	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,caecum,carcinoma,0,2	SIRPA	83	2	0			c.G394A						PASS	.						108	93	98					20																	1896059		2198	4290	6488	SO:0001583	missense	140885	exon3			GATGACGTGGAGT	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.394G>A	20.37:g.1896059G>A	ENSP00000351621:p.Val132Met	Somatic	461	0	0		WXS	Illumina HiSeq	Phase_I	272	44	0.161765	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059262	0.19987	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.64991	-0.13;-0.13;-0.13	5.11	-2.28	0.06826	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.497550	0.01234	N	0.008420	T	0.49558	0.1564	L	0.28192	0.835	0.80722	P	0.0	B;B;B	0.27765	0.084;0.005;0.188	B;B;B	0.27887	0.057;0.01;0.084	T	0.39702	-0.9601	9	0.33141	T	0.24	.	9.8059	0.40792	0.7439:0.0:0.2561:0.0	.	112;132;132	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	132	ENSP00000382941:V132M;ENSP00000348307:V132M;ENSP00000351621:V132M	ENSP00000348307:V132M	V	+	1	0	SIRPA	1844059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.421000	0.07053	-0.198000	0.10333	-1.101000	0.02118	GTG	G|0.679;A|0.321	0.321	strong		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1896059	G	A	1896059	3	1	22	1	0	0	0	0	1	0	0	0	14332	1145	40	1	400	1	SIRPA	20	1896059	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	94	1896059	61129461	10363	15471	332	2	38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896060	1896060	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagggagccccgatgacgTggagtttaagtctggagcag					rs114499682|rs386811663	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1896060T>C	ENST00000358771.4	+	2	547	c.395T>C	c.(394-396)gTg>gCg	p.V132A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V132A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V132A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	132	Ig-like V-type.		V -> T (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCGATGACGTGGAGTTTAAG	0.527													T|||	2050	0.409345	0.2761	0.4222	5008	,	,		15517	0.625		0.3171	False		,,,				2504	0.453				p.V132A	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,caecum,carcinoma,+1,2	SIRPA	83	2	0			c.T395C						PASS	.						110	94	99					20																	1896060		2199	4290	6489	SO:0001583	missense	140885	exon3			ATGACGTGGAGTT	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.395T>C	20.37:g.1896060T>C	ENSP00000351621:p.Val132Ala	Somatic	455	0	0		WXS	Illumina HiSeq	Phase_I	275	46	0.167273	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858225	0.32791	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.63913	-0.07;-0.07;-0.07	5.11	-4.1	0.03940	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.497550	0.01234	N	0.008420	T	0.55257	0.1909	L	0.47190	1.495	0.09310	N	1	B;B;B	0.18741	0.028;0.011;0.03	B;B;B	0.33295	0.113;0.125;0.161	T	0.39165	-0.9627	10	0.33141	T	0.24	.	4.5618	0.12163	0.5656:0.1906:0.0:0.2438	.	112;132;132	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	132	ENSP00000382941:V132A;ENSP00000348307:V132A;ENSP00000351621:V132A	ENSP00000348307:V132A	V	+	2	0	SIRPA	1844060	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.908000	0.01587	-0.575000	0.05982	-0.530000	0.04314	GTG	T|0.684;C|0.317	0.317	strong		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1896060	T	C	1896060	3	2	22	1	0	0	0	0	1	0	0	0	14332	1696	59	2	401	2	SIRPA	20	1896060	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	1896060	61129460	10364	15472	332	2	38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896100	1896100	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcactgagctgtctgtgcgCggtgagtacagcgtgggcct	17	10	1	2	rs6136375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:1896100C>T	ENST00000358771.4	+	2	587	c.435C>T	c.(433-435)cgC>cgT	p.R145R	SIRPA_ENST00000400068.3_Splice_Site_p.R145R|SIRPA_ENST00000356025.3_Splice_Site_p.R145R	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGTCTGTGCGCGGTGAGTACA	0.542																																					p.R145R	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											.	SIRPA	83	.	0			c.C435T						PASS	.	T	,,	1297,3109	432.2+/-343.2	196,905,1102	101	90	93		435,435,435	-8.5	0	20	dbSNP_114	93	3231,5365	470.8+/-367.9	618,1995,1685	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SIRPA	NM_001040022.1,NM_001040023.1,NM_080792.2	,,	814,2900,2787	TT,TC,CC		37.5872,29.4371,34.8254	,,	145/505,145/505,145/505	1896100	4528,8474	2203	4298	6501	SO:0001630	splice_region_variant	140885	exon3			TGTGCGCGGTGAG	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.436+1C>T	20.37:g.1896100C>T		Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	209	48	0.229665	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																			C|0.633;T|0.367	0.367	strong		0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	Silent	T	1896100	C	T	1896100	5	4	22	1	0	0	0	0	0	0	1	0	14332	782	27	1	441	1	SIRPA	20	1896100	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40	1896100	61129420	10365	15473			38	67	303530	8	6	259	N	T_G_C_A	4.922339e-08
TGM3	7053	hgsc.bcm.edu	37	chr20	2291722	2291722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggaagatgccggcatcAtctttgtgggaagcacaaac	11	9	3	1	rs6048066	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2291722A>C	ENST00000381458.5	+	4	550	c.487A>C	c.(487-489)Atc>Ctc	p.I163L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	163			I -> L (in dbSNP:rs6048066). {ECO:0000269|Ref.3}.		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGCCGGCATCATCTTTGTGGG	0.458													A|||	605	0.120807	0.4304	0.0519	5008	,	,		21488	0.0		0.0	False		,,,				2504	0.0				p.I163L		Atlas-SNP	.											.	TGM3	105	.	0			c.A487C						PASS	.	A	LEU/ILE	1503,2903	479.4+/-358.5	255,993,955	158	148	151		487	5.7	0.5	20	dbSNP_114	151	11,8589	7.1+/-27.0	0,11,4289	yes	missense	TGM3	NM_003245.3	5	255,1004,5244	CC,CA,AA		0.1279,34.1126,11.6408	possibly-damaging	163/694	2291722	1514,11492	2203	4300	6503	SO:0001583	missense	7053	exon4			GGCATCATCTTTG	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.487A>C	20.37:g.2291722A>C	ENSP00000370867:p.Ile163Leu	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	169	93	0.550296	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	224	0.10256410256410256	203	0.41260162601626016	19	0.052486187845303865	0	0.0	2	0.002638522427440633	A	18.58	3.653803	0.67472	0.341126	0.001279	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.85171	-1.95	5.71	5.71	0.89125	.	0.243134	0.42821	D	0.000652	T	0.00012	0.0000	M	0.81179	2.53	0.20403	P	0.9999028236	P	0.48407	0.91	D	0.80764	0.994	T	0.00000	-1.2810	9	0.72032	D	0.01	.	13.9352	0.64021	1.0:0.0:0.0:0.0	rs6048066;rs7272340;rs52800893;rs6048066	163	Q08188	TGM3_HUMAN	L	163	ENSP00000370867:I163L	ENSP00000370867:I163L	I	+	1	0	TGM3	2239722	0.997000	0.39634	0.532000	0.27989	0.430000	0.31655	3.089000	0.50183	2.184000	0.69523	0.454000	0.30748	ATC	A|0.871;C|0.129	0.129	strong		0.458	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		C	2291722	A	C	2291722	3	2	22	1	0	0	0	0	1	0	0	0	15828	217	8	5	501	5	TGM3	20	2291722	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	395622	2291722	60733798	10366	15474										
TGM6	343641	hgsc.bcm.edu	37	chr20	2377204	2377204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacaggagtacgtgctcagCgacagcggcatcatcttccg	12	12	3	1	rs16984872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2377204C>T	ENST00000202625.2	+	4	538	c.477C>T	c.(475-477)agC>agT	p.S159S	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.S159S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	159					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACGTGCTCAGCGACAGCGGCA	0.612													C|||	193	0.0385383	0.1225	0.0259	5008	,	,		19129	0.0		0.0099	False		,,,				2504	0.0031				p.S159S		Atlas-SNP	.											TGM6,NS,carcinoma,0,1	TGM6	126	1	0			c.C477T						PASS	.	C		447,3959	215.8+/-234.7	28,391,1784	96	85	89		477	-5.3	0.9	20	dbSNP_123	89	87,8513	49.4+/-109.1	0,87,4213	no	coding-synonymous	TGM6	NM_198994.2		28,478,5997	TT,TC,CC		1.0116,10.1453,4.1058		159/707	2377204	534,12472	2203	4300	6503	SO:0001819	synonymous_variant	343641	exon4			GCTCAGCGACAGC	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.477C>T	20.37:g.2377204C>T		Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	266	124	0.466165	NM_198994	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																			C|0.960;T|0.040	0.040	strong		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2377204	C	T	2377204	2	4	22	1	0	0	0	0	0	0	0	1	15831	767	27	1		1	TGM6	20	2377204	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85482	2377204	60648316	10367	15475										
TGM6	343641	hgsc.bcm.edu	37	chr20	2380323	2380323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attctgcagaagtggctcaaGggcaggtacaagccagtcaa	12	9	3	1	rs6114033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2380323G>A	ENST00000202625.2	+	6	850	c.789G>A	c.(787-789)aaG>aaA	p.K263K	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.K263K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	263					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTGGCTCAAGGGCAGGTACA	0.662													G|||	912	0.182109	0.1982	0.1974	5008	,	,		12837	0.1498		0.1153	False		,,,				2504	0.2515				p.K263K		Atlas-SNP	.											TGM6,NS,carcinoma,0,1	TGM6	126	1	0			c.G789A						scavenged	.	G		845,3561	315.2+/-294.0	72,701,1430	42	45	44		789	5	1	20	dbSNP_114	44	815,7785	179.2+/-228.4	45,725,3530	no	coding-synonymous	TGM6	NM_198994.2		117,1426,4960	AA,AG,GG		9.4767,19.1784,12.7633		263/707	2380323	1660,11346	2203	4300	6503	SO:0001819	synonymous_variant	343641	exon6			GCTCAAGGGCAGG	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.789G>A	20.37:g.2380323G>A		Somatic	239	2	0.0083682		WXS	Illumina HiSeq	Phase_I	303	157	0.518152	NM_198994	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																			G|0.857;A|0.143	0.143	strong		0.662	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		A	2380323	G	A	2380323	2	1	22	1	0	0	0	0	0	0	0	1	15831	991	35	2		2	TGM6	20	2380323	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3119	2380323	60645197	10368	15476										
TGM6	343641	hgsc.bcm.edu	37	chr20	2398017	2398017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctggagcctgccaccaaGcccagcatcgctggcaagtt	10	16	0	0	rs2295077	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2398017G>A	ENST00000202625.2	+	10	1537	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	TGM6_ENST00000381423.1_Silent_p.K492K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	492					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGCCACCAAGCCCAGCATCG	0.652													G|||	1625	0.324481	0.5121	0.1931	5008	,	,		18063	0.3333		0.1561	False		,,,				2504	0.3282				p.K492K		Atlas-SNP	.											.	TGM6	126	.	0			c.G1476A						PASS	.	G		2056,2350	552.3+/-378.5	483,1090,630	43	38	40		1476	3.6	1	20	dbSNP_100	40	1476,7124	274.3+/-291.2	120,1236,2944	no	coding-synonymous	TGM6	NM_198994.2		603,2326,3574	AA,AG,GG		17.1628,46.6636,27.1567		492/707	2398017	3532,9474	2203	4300	6503	SO:0001819	synonymous_variant	343641	exon10			CACCAAGCCCAGC	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1476G>A	20.37:g.2398017G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_198994	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																			G|0.719;A|0.281	0.281	strong		0.652	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		A	2398017	G	A	2398017	2	1	22	1	0	0	0	0	0	0	0	1	15831	962	34	2		2	TGM6	20	2398017	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17694	2398017	60627503	10369	15477										
TGM6	343641	hgsc.bcm.edu	37	chr20	2411118	2411118	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatcccaattacaatatctTactctaagtataaagaagac	4	8	2	2	rs142406714	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2411118T>A	ENST00000202625.2	+	11	1766	c.1705T>A	c.(1705-1707)Tac>Aac	p.Y569N	TGM6_ENST00000381423.1_Missense_Mutation_p.Y569N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	569					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TACAATATCTTACTCTAAGTA	0.458													T|||	3	0.000599042	0.0023	0.0	5008	,	,		19164	0.0		0.0	False		,,,				2504	0.0				p.Y569N		Atlas-SNP	.											.	TGM6	126	.	0			c.T1705A						PASS	.	T	ASN/TYR	5,4401	9.9+/-24.2	0,5,2198	92	87	88		1705	5.9	1	20	dbSNP_134	88	0,8600		0,0,4300	yes	missense	TGM6	NM_198994.2	143	0,5,6498	AA,AT,TT		0.0,0.1135,0.0384	probably-damaging	569/707	2411118	5,13001	2203	4300	6503	SO:0001583	missense	343641	exon11			ATATCTTACTCTA	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1705T>A	20.37:g.2411118T>A	ENSP00000202625:p.Tyr569Asn	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	70	41	0.585714	NM_198994	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069978	0.76301	0.001135	0.0	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.71341	-0.56;-0.56	5.88	5.88	0.94601	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.203565	0.43919	D	0.000512	D	0.84428	0.5470	M	0.83384	2.64	0.43846	D	0.996433	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.86612	0.1873	10	0.87932	D	0	-31.5353	12.6797	0.56914	0.0:0.0:0.0:1.0	.	569;569	O95932-2;O95932	.;TGM3L_HUMAN	N	569	ENSP00000202625:Y569N;ENSP00000370831:Y569N	ENSP00000202625:Y569N	Y	+	1	0	TGM6	2359118	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	4.493000	0.60341	2.242000	0.73789	0.533000	0.62120	TAC	T|1.000;A|0.000	0.000	weak		0.458	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		A	2411118	T	A	2411118	3	1	22	1	0	0	0	0	1	0	0	0	15831	1754	61	5	1747	5	TGM6	20	2411118	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13101	2411118	60614402	10370	15478										
TMC2	117532	hgsc.bcm.edu	37	chr20	2582839	2582839	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcgtgtcctggccaacttTctcatcatctgctgtttgtg	8	12	3	0	rs140733869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2582839T>A	ENST00000358864.1	+	11	1320	c.1305T>A	c.(1303-1305)ttT>ttA	p.F435L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	435					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGCCAACTTTCTCATCATCT	0.388													T|||	15	0.00299521	0.0106	0.0014	5008	,	,		20141	0.0		0.0	False		,,,				2504	0.0				p.F435L		Atlas-SNP	.											.	TMC2	121	.	0			c.T1305A						PASS	.	T	LEU/PHE	26,4380	32.6+/-62.9	0,26,2177	199	174	182		1305	-4.7	1	20	dbSNP_134	182	0,8600		0,0,4300	yes	missense	TMC2	NM_080751.2	22	0,26,6477	AA,AT,TT		0.0,0.5901,0.1999	possibly-damaging	435/907	2582839	26,12980	2203	4300	6503	SO:0001583	missense	117532	exon11			CAACTTTCTCATC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1305T>A	20.37:g.2582839T>A	ENSP00000351732:p.Phe435Leu	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	245	137	0.559184	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	17.98	3.520320	0.64747	0.005901	0.0	ENSG00000149488	ENST00000358864	T	0.80994	-1.44	5.58	-4.7	0.03288	.	0.171732	0.56097	D	0.000039	T	0.64811	0.2632	L	0.60845	1.875	0.39342	D	0.965601	B;B;P;P	0.45986	0.382;0.209;0.866;0.87	B;B;P;P	0.50570	0.064;0.031;0.644;0.542	T	0.76044	-0.3103	10	0.09084	T	0.74	-13.3661	15.7824	0.78272	0.0:0.7271:0.0:0.2729	.	266;267;435;435	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	L	435	ENSP00000351732:F435L	ENSP00000351732:F435L	F	+	3	2	TMC2	2530839	0.062000	0.20869	0.972000	0.41901	0.959000	0.62525	-0.545000	0.06069	-0.718000	0.04949	-1.151000	0.01829	TTT	T|0.997;A|0.003	0.003	strong		0.388	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2582839	T	A	2582839	3	1	22	1	0	0	0	0	1	0	0	0	15982	1780	62	5	1347	5	TMC2	20	2582839	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	171721	2582839	60442681	10371	15479										
IDH3B	3420	hgsc.bcm.edu	37	chr20	2639162	2639162	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagccacccatgtcagaggTtcgaacctgtgggggagaat	13	9	1	2	rs8296	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2639162T>C	ENST00000380843.4	-	0	1423				IDH3B_ENST00000380851.5_Missense_Mutation_p.T360A|IDH3B_ENST00000488299.1_5'UTR|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						ATGTCAGAGGTTCGAACCTGT	0.557													T|||	350	0.0698882	0.2481	0.0288	5008	,	,		20020	0.0		0.002	False		,,,				2504	0.0				p.T360A		Atlas-SNP	.											.	IDH3B	25	.	0			c.A1078G						PASS	.	T	,ALA/THR,	794,3612	318.0+/-295.4	68,658,1477	88	80	83		,1078,	5.8	1	20	dbSNP_52	83	10,8590	7.1+/-27.0	0,10,4290	yes	utr-3,missense,utr-3	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	,58,	68,668,5767	CC,CT,TT		0.1163,18.0209,6.1818	,,	,360/384,	2639162	804,12202	2203	4300	6503	SO:0001624	3_prime_UTR_variant	3420	exon12			CAGAGGTTCGAAC		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.*235A>G	20.37:g.2639162T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	142	76	0.535211	NM_174855	B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	CCDS13032.1	131	0.059981684981684984	122	0.24796747967479674	7	0.019337016574585635	0	0.0	2	0.002638522427440633	T	24.2	4.508529	0.85282	0.180209	0.001163	ENSG00000101365	ENST00000380851	T	0.75154	-0.91	5.83	5.83	0.93111	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	P	1.0	D	0.89917	1.0	D	0.97110	1.0	T	0.00144	-1.1994	7	0.87932	D	0	.	14.1519	0.65392	0.0:0.0:0.0:1.0	rs8296;rs3171331;rs52803478;rs8296	360	O43837-2	.	A	360	ENSP00000370232:T360A	ENSP00000370232:T360A	T	-	1	0	IDH3B	2587162	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.857000	0.75455	2.224000	0.72417	0.477000	0.44152	ACC	T|0.938;C|0.062	0.062	strong		0.557	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			C	2639162	T	C	2639162	1	2	22	0	1	0	0	0	0	0	0	0	7497	1725	60	2		2	IDH3B	20	2639162	3'UTR	SNP	T	TCGA-G8-6324-01A-11D-2210-10	56323	2639162	60386358	10372	15480										
PTPRA	5786	hgsc.bcm.edu	37	chr20	2945759	2945759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaaatggaacgtggcttcCagataaccagttcacggatg	10	10	1	1	rs1178027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2945759C>T	ENST00000216877.6	+	5	726	c.326C>T	c.(325-327)cCa>cTa	p.P109L	PTPRA_ENST00000425918.2_Missense_Mutation_p.P120L|PTPRA_ENST00000380393.3_Missense_Mutation_p.P109L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P109L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P109L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P109L|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	109			P -> L (in dbSNP:rs1178027).		axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P109L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGGCTTCCAGATAACCAG	0.473													C|||	1347	0.26897	0.6747	0.2017	5008	,	,		17844	0.1181		0.0885	False		,,,				2504	0.1094				p.P109L		Atlas-SNP	.											PTPRA,NS,carcinoma,0,1	PTPRA	75	1	1	Substitution - Missense(1)	stomach(1)	c.C326T						PASS	.	C	LEU/PRO,LEU/PRO,LEU/PRO	2456,1950	615.3+/-392.5	676,1104,423	104	110	108		326,326,326	2.1	0.9	20	dbSNP_87	108	864,7736	195.2+/-240.5	42,780,3478	yes	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	98,98,98	718,1884,3901	TT,TC,CC		10.0465,44.2578,25.5267	benign,benign,benign	109/803,109/794,109/794	2945759	3320,9686	2203	4300	6503	SO:0001583	missense	5786	exon9			GGCTTCCAGATAA		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.326C>T	20.37:g.2945759C>T	ENSP00000216877:p.Pro109Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_002836	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	527	0.2413003663003663	317	0.6443089430894309	63	0.17403314917127072	81	0.14160839160839161	66	0.0870712401055409	C	12.84	2.059033	0.36373	0.557422	0.100465	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T;T	0.49432	3.92;0.87;3.95;3.92;1.08;3.92;3.95;0.78;3.95	5.25	2.1	0.27182	.	0.899723	0.09220	U	0.831993	T	0.00012	0.0000	N	0.24115	0.695	0.09310	P	0.99999798651	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.43718	-0.9374	9	0.56958	D	0.05	.	6.3363	0.21298	0.0:0.6683:0.1548:0.1769	rs1178027;rs3746691;rs52796339;rs59628468;rs1178027	120;109	B7Z2A4;P18433-4	.;.	L	109;109;109;109;109;109;120;109;109;109	ENSP00000369756:P109L;ENSP00000414089:P109L;ENSP00000216877:P109L;ENSP00000382787:P109L;ENSP00000390775:P109L;ENSP00000393553:P120L;ENSP00000314568:P109L;ENSP00000394132:P109L;ENSP00000348468:P109L	ENSP00000216877:P109L	P	+	2	0	PTPRA	2893759	0.997000	0.39634	0.902000	0.35471	0.988000	0.76386	0.786000	0.26844	0.659000	0.30945	0.655000	0.94253	CCA	C|0.738;T|0.262	0.262	strong		0.473	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			T	2945759	C	T	2945759	3	4	22	1	0	0	0	0	1	0	0	0	12795	594	21	2	332	2	PTPRA	20	2945759	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	306597	2945759	60079761	10373	15481										
PTPRA	5786	hgsc.bcm.edu	37	chr20	2969015	2969015	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgccacttctggccagatcCccaagcaccaacaggaaata	8	14	1	1	rs61742610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:2969015C>G	ENST00000216877.6	+	8	1006	c.606C>G	c.(604-606)tcC>tcG	p.S202S	PTPRA_ENST00000425918.2_Silent_p.S222S|PTPRA_ENST00000380393.3_Silent_p.S211S|PTPRA_ENST00000399903.2_Silent_p.S211S|PTPRA_ENST00000318266.5_Silent_p.S202S|PTPRA_ENST00000356147.3_Silent_p.S202S|PTPRA_ENST00000358719.4_Silent_p.S67S	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	211					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCCAGATCCCCAAGCACCA	0.547													C|||	147	0.029353	0.0802	0.0231	5008	,	,		17950	0.001		0.003	False		,,,				2504	0.0215				p.S211S		Atlas-SNP	.											.	PTPRA	75	.	0			c.C633G						PASS	.	C	,,	279,4127	155.5+/-188.7	9,261,1933	96	95	96		633,606,606	0.8	1	20	dbSNP_129	96	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	,,	9,277,6217	GG,GC,CC		0.186,6.3323,2.2682	,,	211/803,202/794,202/794	2969015	295,12711	2203	4300	6503	SO:0001819	synonymous_variant	5786	exon13			CAGATCCCCAAGC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.606C>G	20.37:g.2969015C>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	145	80	0.551724	NM_002836	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	CCDS13039.1																																																																																			C|0.977;G|0.023	0.023	strong		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	2969015	C	G	2969015	2	3	22	1	0	0	0	0	0	0	0	1	12795	610	22	4		4	PTPRA	20	2969015	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23256	2969015	60056505	10374	15482										
SLC4A11	83959	hgsc.bcm.edu	37	chr20	3209254	3209254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccatagagcacgggcttGgggatccactgaagcgggac	16	10	0	2	rs139086376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3209254G>A	ENST00000380056.3	-	17	2387	c.2340C>T	c.(2338-2340)ccC>ccT	p.P780P	SLC4A11_ENST00000539553.2_Silent_p.P764P|SLC4A11_ENST00000380059.3_Silent_p.P807P|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	780	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCACGGGCTTGGGGATCCACT	0.652													G|||	31	0.0061901	0.0219	0.0029	5008	,	,		17235	0.0		0.0	False		,,,				2504	0.0				p.P807P	NSCLC(190;922 2139 10266 10292 38692)	Atlas-SNP	.											.	SLC4A11	188	.	0			c.C2421T						PASS	.	G	,,	78,4328	65.8+/-103.3	0,78,2125	75	69	71		2292,2421,2340	4	1	20	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	0,79,6424	AA,AG,GG		0.0116,1.7703,0.6074	,,	764/876,807/919,780/892	3209254	79,12927	2203	4300	6503	SO:0001819	synonymous_variant	83959	exon18			GGGCTTGGGGATC	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2340C>T	20.37:g.3209254G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	153	72	0.470588	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			G|0.994;A|0.006	0.006	strong		0.652	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			A	3209254	G	A	3209254	2	1	22	1	0	0	0	0	0	0	0	1	14652	1335	47	2		2	SLC4A11	20	3209254	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	240239	3209254	59816266	10375	15483										
SLC4A11	83959	hgsc.bcm.edu	37	chr20	3214581	3214581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcacatgatgcagagccaCgactgctggtaccgcacccc	9	16	1	2	rs3803956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3214581C>T	ENST00000380056.3	-	5	686	c.639G>A	c.(637-639)tcG>tcA	p.S213S	SLC4A11_ENST00000539553.2_Silent_p.S197S|SLC4A11_ENST00000380059.3_Silent_p.S240S	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	213			S -> L (in CHED2). {ECO:0000269|PubMed:17679935}.|S -> P (in CDPD). {ECO:0000269|PubMed:17220209}.		bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGCAGAGCCACGACTGCTGGT	0.627													C|||	833	0.166334	0.2186	0.1254	5008	,	,		17524	0.128		0.1779	False		,,,				2504	0.1524				p.S240S	NSCLC(190;922 2139 10266 10292 38692)	Atlas-SNP	.											.	SLC4A11	188	.	0			c.G720A						PASS	.	C	,,	933,3473	355.6+/-313.1	107,719,1377	123	114	117		591,720,639	-10.4	0	20	dbSNP_107	117	1489,7111	283.3+/-296.1	121,1247,2932	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	228,1966,4309	TT,TC,CC		17.314,21.1757,18.6222	,,	197/876,240/919,213/892	3214581	2422,10584	2203	4300	6503	SO:0001819	synonymous_variant	83959	exon6			GAGCCACGACTGC	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.639G>A	20.37:g.3214581C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			C|0.820;T|0.180	0.180	strong		0.627	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3214581	C	T	3214581	2	4	22	1	0	0	0	0	0	0	0	1	14652	523	19	1		1	SLC4A11	20	3214581	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5327	3214581	59810939	10376	15484										
GFRA4	64096	hgsc.bcm.edu	37	chr20	3640568	3640568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcctaatcagagcagggcCgggagagccaggacaggaag	16	9	1	2	rs74740423	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3640568C>T	ENST00000319242.3	-	5	887	c.888G>A	c.(886-888)ccG>ccA	p.P296P	GFRA4_ENST00000290417.2_Silent_p.P266P			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	296					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						AGAGCAGGGCCGGGAGAGCCA	0.647													C|||	147	0.029353	0.1051	0.0115	5008	,	,		18655	0.0		0.0	False		,,,				2504	0.0				p.P296P		Atlas-SNP	.											.	GFRA4	10	.	0			c.G888A						PASS	.	C	,	405,3999		13,379,1810	29	30	29		798,888	2.8	0.3	20	dbSNP_131	29	3,8589		0,3,4293	no	coding-synonymous,coding-synonymous	GFRA4	NM_022139.3,NM_145762.2	,	13,382,6103	TT,TC,CC		0.0349,9.1962,3.1394	,	266/270,296/300	3640568	408,12588	2202	4296	6498	SO:0001819	synonymous_variant	64096	exon5			CAGGGCCGGGAGA	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.888G>A	20.37:g.3640568C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	41	23	0.560976	NM_145762	Q5JT74|Q9H191|Q9H192	Silent	SNP	ENST00000319242.3	37	CCDS13056.1																																																																																			C|0.968;T|0.032	0.032	strong		0.647	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		T	3640568	C	T	3640568	2	4	22	1	0	0	0	0	0	0	0	1	6350	639	23	1		1	GFRA4	20	3640568	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	425987	3640568	59384952	10377	15485										
ADAM33	80332	hgsc.bcm.edu	37	chr20	3650205	3650205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcactcacccaggggccaggGctgtccagtggctgtggggc	16	13	2	0	rs2280090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3650205G>A	ENST00000356518.2	-	20	2561	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.P774S|ADAM33_ENST00000350009.2_Missense_Mutation_p.P748S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	774			P -> S (in dbSNP:rs2280090). {ECO:0000269|Ref.4}.		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGGGGCCAGGGCTGTCCAGTG	0.657													G|||	723	0.144369	0.1641	0.0836	5008	,	,		16017	0.129		0.1421	False		,,,				2504	0.1789				p.P774S		Atlas-SNP	.											.	ADAM33	76	.	0			c.C2320T						PASS	.	G	SER/PRO,SER/PRO	627,3773		44,539,1617	20	19	20		2320,2242	-0.2	0	20	dbSNP_100	20	1134,7454		83,968,3243	yes	missense,missense	ADAM33	NM_025220.2,NM_153202.1	74,74	127,1507,4860	AA,AG,GG		13.2045,14.25,13.5587	benign,benign	774/814,748/788	3650205	1761,11227	2200	4294	6494	SO:0001583	missense	80332	exon20			GCCAGGGCTGTCC	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.2320C>T	20.37:g.3650205G>A	ENSP00000348912:p.Pro774Ser	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_025220	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	318	0.14560439560439561	97	0.19715447154471544	37	0.10220994475138122	72	0.1258741258741259	112	0.14775725593667546	G	10.34	1.324213	0.24080	0.1425	0.132045	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.01629	4.83;4.82;4.72	4.23	-0.229	0.13094	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B;P	0.42692	0.061;0.036;0.036;0.787	B;B;B;B	0.33121	0.015;0.007;0.007;0.158	T	0.46624	-0.9178	8	0.17369	T	0.5	.	4.2557	0.10715	0.3043:0.1706:0.5251:0.0	rs2280090;rs17548858	748;774;774;654	Q9BZ11-2;Q9BZ11;A2A2L3;Q08AM2	.;ADA33_HUMAN;.;.	S	774;774;748;654	ENSP00000348912:P774S;ENSP00000369190:P774S;ENSP00000322550:P748S	ENSP00000322550:P748S	P	-	1	0	ADAM33	3598205	0.001000	0.12720	0.009000	0.14445	0.135000	0.20990	0.039000	0.13884	-0.099000	0.12263	0.561000	0.74099	CCC	G|0.871;A|0.129	0.129	strong		0.657	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		A	3650205	G	A	3650205	3	1	22	1	0	0	0	0	1	0	0	0	250	1203	42	2	133	2	ADAM33	20	3650205	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9637	3650205	59375315	10378	15486										
ADAM33	80332	hgsc.bcm.edu	37	chr20	3650234	3650234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgtggggcccaactccAtggggtgaacgccgcccagg	16	13	0	1	rs2280091	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3650234A>G	ENST00000356518.2	-	20	2532	c.2291T>C	c.(2290-2292)aTg>aCg	p.M764T	ADAM33_ENST00000379861.4_Missense_Mutation_p.M764T|ADAM33_ENST00000350009.2_Missense_Mutation_p.M738T|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	764			M -> T (in dbSNP:rs2280091). {ECO:0000269|Ref.4}.		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCCAACTCCATGGGGTGAAC	0.647													A|||	672	0.134185	0.1354	0.0836	5008	,	,		15976	0.12		0.1421	False		,,,				2504	0.1748				p.M764T		Atlas-SNP	.											.	ADAM33	76	.	0			c.T2291C						PASS	.	A	THR/MET,THR/MET	595,3809		38,519,1645	21	21	21		2291,2213	1.2	0	20	dbSNP_100	21	1146,7446		83,980,3233	yes	missense,missense	ADAM33	NM_025220.2,NM_153202.1	81,81	121,1499,4878	GG,GA,AA		13.338,13.5104,13.3964	benign,benign	764/814,738/788	3650234	1741,11255	2202	4296	6498	SO:0001583	missense	80332	exon20			AACTCCATGGGGT	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.2291T>C	20.37:g.3650234A>G	ENSP00000348912:p.Met764Thr	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	141	71	0.503546	NM_025220	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	310	0.14194139194139194	93	0.18902439024390244	38	0.10497237569060773	66	0.11538461538461539	113	0.14907651715039577	A	5.802	0.332217	0.10956	0.135104	0.13338	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.01438	4.9;4.89;4.92	3.57	1.16	0.20824	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B;B;B;P	0.40083	0.131;0.081;0.081;0.702	B;B;B;B	0.34180	0.033;0.015;0.015;0.177	T	0.43829	-0.9367	8	0.14656	T	0.56	.	5.1534	0.15021	0.7179:0.0:0.2821:0.0	rs2280091;rs17548865;rs2280091	738;764;764;644	Q9BZ11-2;Q9BZ11;A2A2L3;Q08AM2	.;ADA33_HUMAN;.;.	T	764;764;738;644	ENSP00000348912:M764T;ENSP00000369190:M764T;ENSP00000322550:M738T	ENSP00000322550:M738T	M	-	2	0	ADAM33	3598234	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.812000	0.27211	0.209000	0.20645	-0.366000	0.07423	ATG	A|0.871;G|0.129	0.129	strong		0.647	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		G	3650234	A	G	3650234	3	3	22	1	0	0	0	0	1	0	0	0	250	217	8	2	162	2	ADAM33	20	3650234	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	29	3650234	59375286	10379	15487										
ADAM33	80332	hgsc.bcm.edu	37	chr20	3651742	3651742	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacaccaggccaggccggcCcctgggagcagaggcagcag	15	15	0	1	rs528557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3651742C>G	ENST00000356518.2	-	19	2392	c.2151G>C	c.(2149-2151)ggG>ggC	p.G717G	ADAM33_ENST00000379861.4_Silent_p.G717G|ADAM33_ENST00000350009.2_Silent_p.G691G|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	717					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCCGGCCCCTGGGAGCA	0.672													C|||	1942	0.38778	0.6974	0.1988	5008	,	,		18937	0.25		0.2744	False		,,,				2504	0.362				p.G717G		Atlas-SNP	.											.	ADAM33	76	.	0			c.G2151C						PASS	.	C	,	2757,1639		886,985,327	20	24	22		2151,2073	1.6	0.6	20	dbSNP_83	22	2301,6291		325,1651,2320	no	coding-synonymous,coding-synonymous	ADAM33	NM_025220.2,NM_153202.1	,	1211,2636,2647	GG,GC,CC		26.7807,37.2839,38.9436	,	717/814,691/788	3651742	5058,7930	2198	4296	6494	SO:0001819	synonymous_variant	80332	exon19			GCCGGCCCCTGGG	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.2151G>C	20.37:g.3651742C>G		Somatic	187	1	0.00534759		WXS	Illumina HiSeq	Phase_I	174	173	0.994253	NM_025220	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																			C|0.599;G|0.401	0.401	strong		0.672	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		G	3651742	C	G	3651742	2	3	22	1	0	0	0	0	0	0	0	1	250	610	22	4		4	ADAM33	20	3651742	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1508	3651742	59373778	10380	15488										
SIGLEC1	6614	hgsc.bcm.edu	37	chr20	3670646	3670646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggaggtagaggcagagccCaggacatttgaggcagaaca	16	7	0	4	rs8115679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3670646C>T	ENST00000344754.4	-	18	4856	c.4857G>A	c.(4855-4857)ctG>ctA	p.L1619L	SIGLEC1_ENST00000202578.4_Silent_p.L1619L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1619	Ig-like C2-type 16.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCAGAGCCCAGGACATTTG	0.597													C|||	117	0.0233626	0.0862	0.0043	5008	,	,		19707	0.0		0.0	False		,,,				2504	0.0				p.L1619L		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.G4857A						PASS	.	C		310,4094	164.4+/-196.0	11,288,1903	44	38	40		4857	4.6	1	20	dbSNP_116	40	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIGLEC1	NM_023068.3		11,290,6201	TT,TC,CC		0.0233,7.0391,2.3993		1619/1710	3670646	312,12692	2202	4300	6502	SO:0001819	synonymous_variant	6614	exon18			AGAGCCCAGGACA	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4857G>A	20.37:g.3670646C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	178	75	0.421348	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	C	8.307	0.821130	0.16678	0.070391	2.33E-4	ENSG00000088827	ENST00000419548	.	.	.	5.55	4.6	0.57074	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	12.3752	0.55275	0.0:0.8305:0.1695:0.0	rs8115679;rs8115679	.	.	.	R	433	.	.	G	-	1	0	SIGLEC1	3618646	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	1.377000	0.34317	1.320000	0.45209	0.561000	0.74099	GGG	C|0.974;T|0.026	0.026	strong		0.597	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		T	3670646	C	T	3670646	2	4	22	1	0	0	0	0	0	0	0	1	14305	581	21	2		2	SIGLEC1	20	3670646	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18904	3670646	59354874	10381	15489										
SIGLEC1	6614	hgsc.bcm.edu	37	chr20	3672746	3672746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accttgccatcatgagatagGgccagctcagcaggtggctc	12	12	2	1	rs34921899	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3672746G>A	ENST00000344754.4	-	16	4133	c.4134C>T	c.(4132-4134)gcC>gcT	p.A1378A	SIGLEC1_ENST00000202578.4_Silent_p.A1378A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1378	Ig-like C2-type 14.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CATGAGATAGGGCCAGCTCAG	0.637													G|||	103	0.0205671	0.0772	0.0014	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.0				p.A1378A		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.C4134T						PASS	.	G		234,4170	138.0+/-173.8	7,220,1975	45	37	40		4134	1.1	0.3	20	dbSNP_126	40	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	SIGLEC1	NM_023068.3		7,224,6271	AA,AG,GG		0.0465,5.3134,1.8302		1378/1710	3672746	238,12766	2202	4300	6502	SO:0001819	synonymous_variant	6614	exon16			AGATAGGGCCAGC	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4134C>T	20.37:g.3672746G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	41	22	0.536585	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1	32	0.014652014652014652	31	0.06300813008130081	0	0.0	0	0.0	1	0.0013192612137203166	G	6.234	0.411258	0.11812	0.053134	4.65E-4	ENSG00000088827	ENST00000419548	.	.	.	5.5	1.12	0.20585	.	.	.	.	.	T	0.07098	0.0180	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.03193	-1.1062	4	.	.	.	.	3.0219	0.06078	0.1405:0.1464:0.5625:0.1506	rs34921899	.	.	.	S	192	.	.	P	-	1	0	SIGLEC1	3620746	0.613000	0.27009	0.313000	0.25210	0.552000	0.35366	0.539000	0.23175	-0.009000	0.14296	0.655000	0.94253	CCT	G|0.979;A|0.021	0.021	strong		0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3672746	G	A	3672746	2	1	22	1	0	0	0	0	0	0	0	1	14305	1219	43	2		2	SIGLEC1	20	3672746	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2100	3672746	59352774	10382	15490										
SIGLEC1	6614	hgsc.bcm.edu	37	chr20	3674170	3674170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaccgcagcggtaggaggtGgcatccctgactgtgacgtt	14	11	0	2	rs61734520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3674170G>A	ENST00000344754.4	-	13	3431	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A	SIGLEC1_ENST00000202578.4_Silent_p.A1144A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1144	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGTAGGAGGTGGCATCCCTGA	0.662													G|||	103	0.0205671	0.0772	0.0014	5008	,	,		15685	0.0		0.0	False		,,,				2504	0.0				p.A1144A		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.C3432T						PASS	.	G		233,4173	136.9+/-172.8	7,219,1977	53	47	49		3432	-3	0.7	20	dbSNP_129	49	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	SIGLEC1	NM_023068.3		7,223,6273	AA,AG,GG		0.0465,5.2882,1.8222		1144/1710	3674170	237,12769	2203	4300	6503	SO:0001819	synonymous_variant	6614	exon13			GGAGGTGGCATCC	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3432C>T	20.37:g.3674170G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	69	0.579832	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																			G|0.980;A|0.020	0.020	strong		0.662	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3674170	G	A	3674170	2	1	22	1	0	0	0	0	0	0	0	1	14305	1335	47	2		2	SIGLEC1	20	3674170	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1424	3674170	59351350	10383	15491										
SIGLEC1	6614	hgsc.bcm.edu	37	chr20	3686676	3686676	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggaggcaatggtgggcaCcctgggctcctctgaggaca	17	11	1	1	rs35953127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3686676C>G	ENST00000344754.4	-	3	420	c.421G>C	c.(421-423)Gtg>Ctg	p.V141L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V141L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	141	Ig-like C2-type 1.		V -> L (in dbSNP:rs35953127).		cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATGGTGGGCACCCTGGGCTCC	0.627													C|||	212	0.0423323	0.1551	0.0101	5008	,	,		17587	0.0		0.0	False		,,,				2504	0.0				p.V141L		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.G421C						PASS	.	C	LEU/VAL	534,3872	236.5+/-248.6	30,474,1699	47	51	49		421	-4.2	0	20	dbSNP_126	49	7,8593	4.3+/-15.6	0,7,4293	yes	missense	SIGLEC1	NM_023068.3	32	30,481,5992	GG,GC,CC		0.0814,12.1198,4.1596	benign	141/1710	3686676	541,12465	2203	4300	6503	SO:0001583	missense	6614	exon3			TGGGCACCCTGGG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.421G>C	20.37:g.3686676C>G	ENSP00000341141:p.Val141Leu	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	55	0.025183150183150184	51	0.10365853658536585	4	0.011049723756906077	0	0.0	0	0.0	C	9.310	1.055241	0.19907	0.121198	8.14E-4	ENSG00000088827	ENST00000344754;ENST00000202578	D;D	0.86030	-2.06;-2.06	5.14	-4.16	0.03869	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.833960	0.01625	N	0.023240	T	0.03390	0.0098	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.12156	0.007;0.002;0.004	T	0.35500	-0.9786	10	0.15952	T	0.53	.	5.3212	0.15881	0.0:0.2732:0.2779:0.4489	rs35953127;rs57549161	141;141;141	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	L	141	ENSP00000341141:V141L;ENSP00000202578:V141L	ENSP00000202578:V141L	V	-	1	0	SIGLEC1	3634676	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	-0.384000	0.07845	0.563000	0.77884	GTG	C|0.957;G|0.043	0.043	strong		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		G	3686676	C	G	3686676	3	3	22	1	0	0	0	0	1	0	0	0	14305	507	18	4	4784	4	SIGLEC1	20	3686676	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12506	3686676	59338844	10384	15492										
C20orf27	54976	hgsc.bcm.edu	37	chr20	3736160	3736160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcttgaggtgcaggctgGggacaggtgcctcgcggaca	19	9	0	1	rs140915844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3736160G>A	ENST00000379772.3	-	4	1067	c.257C>T	c.(256-258)cCc>cTc	p.P86L	C20orf27_ENST00000217195.8_Missense_Mutation_p.P111L	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	86										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GTGCAGGCTGGGGACAGGTGC	0.617													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20807	0.0		0.0	False		,,,				2504	0.0				p.P111L		Atlas-SNP	.											.	C20orf27	17	.	0			c.C332T						PASS	.	G	LEU/PRO	20,4386	27.2+/-55.0	0,20,2183	80	64	69		332	3.2	1	20	dbSNP_134	69	0,8600		0,0,4300	yes	missense	C20orf27	NM_001039140.1	98	0,20,6483	AA,AG,GG		0.0,0.4539,0.1538	benign	111/200	3736160	20,12986	2203	4300	6503	SO:0001583	missense	54976	exon4			AGGCTGGGGACAG	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.257C>T	20.37:g.3736160G>A	ENSP00000369097:p.Pro86Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	65	27	0.415385	NM_001039140	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	CCDS58763.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.38|16.38	3.108437|3.108437	0.56291|0.56291	0.004539|0.004539	0.0|0.0	ENSG00000101220|ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765|ENST00000399683	.|.	.|.	.|.	4.15|4.15	3.17|3.17	0.36434|0.36434	.|.	0.139643|0.139643	0.48286|0.48286	U|N	0.000198|0.000198	T|T	0.67915|0.67915	0.2944|0.2944	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	B;B;D|.	0.57257|.	0.001;0.435;0.979|.	B;B;P|.	0.59487|.	0.003;0.215;0.858|.	T|T	0.64179|0.64179	-0.6468|-0.6468	9|7	0.72032|0.19147	D|T	0.01|0.46	-3.9217|-3.9217	11.1696|11.1696	0.48563|0.48563	0.0:0.0:0.8075:0.1925|0.0:0.0:0.8075:0.1925	.|.	86;111;86|.	Q9GZN8;Q9GZN8-2;E9PAL2|.	CT027_HUMAN;.;.|.	L|S	86;111;86;86|80	.|.	ENSP00000217195:P111L|ENSP00000382591:P80S	P|P	-|-	2|1	0|0	C20orf27|C20orf27	3684160|3684160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	4.963000|4.963000	0.63694|0.63694	1.297000|1.297000	0.44761|0.44761	0.561000|0.561000	0.74099|0.74099	CCC|CCA	G|0.999;A|0.001	0.001	strong		0.617	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		A	3736160	G	A	3736160	3	1	22	1	0	0	0	0	1	0	0	0	2107	1232	43	2	279	2	C20orf27	20	3736160	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	49484	3736160	59289360	10385	15493										
CDC25B	994	hgsc.bcm.edu	37	chr20	3782702	3782702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccgtgcagaataagcggagGcggagcgtgacccctcctga	14	13	0	3	rs2228465	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3782702G>A	ENST00000245960.5	+	10	1750	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.R287R|CDC25B_ENST00000439880.2_Silent_p.R337R|CDC25B_ENST00000340833.4_Silent_p.R310R|CDC25B_ENST00000379598.5_Silent_p.R260R	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	351					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						ATAAGCGGAGGCGGAGCGTGA	0.657													G|||	167	0.0333466	0.0477	0.0303	5008	,	,		16765	0.0198		0.0318	False		,,,				2504	0.0317				p.R351R		Atlas-SNP	.											.	CDC25B	76	.	0			c.G1053A						PASS	.	G	,,	189,4205		9,171,2017	29	25	27		1011,930,1053	2.5	1	20	dbSNP_98	27	291,8277		8,275,4001	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	,,	17,446,6018	AA,AG,GG		3.3964,4.3013,3.7031	,,	337/567,310/540,351/581	3782702	480,12482	2197	4284	6481	SO:0001819	synonymous_variant	994	exon10			GCGGAGGCGGAGC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1053G>A	20.37:g.3782702G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_021873	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	CCDS13067.1																																																																																			G|0.956;A|0.044	0.044	strong		0.657	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		A	3782702	G	A	3782702	2	1	22	1	0	0	0	0	0	0	0	1	3063	1194	42	2		2	CDC25B	20	3782702	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	46542	3782702	59242818	10386	15494										
MAVS	57506	hgsc.bcm.edu	37	chr20	3846397	3846397	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctggctagacagcagctCtgagaataggggccttgggt	15	9	1	2	rs7269320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:3846397C>T	ENST00000428216.2	+	7	1354	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	MAVS_ENST00000416600.2_Missense_Mutation_p.S268F|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	409			S -> F (in dbSNP:rs7269320). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16125763, ECO:0000269|PubMed:16177806}.		activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACAGCAGCTCTGAGAATAGG	0.622													C|||	1062	0.212061	0.4123	0.1268	5008	,	,		16817	0.0883		0.159	False		,,,				2504	0.184				p.S409F		Atlas-SNP	.											.	MAVS	34	.	0			c.C1226T						PASS	.	C	PHE/SER,PHE/SER	1581,2825	463.0+/-353.4	263,1055,885	27	27	27		803,1226	0.2	0	20	dbSNP_116	27	1393,7207	255.4+/-280.3	106,1181,3013	yes	missense,missense	MAVS	NM_001206491.1,NM_020746.4	155,155	369,2236,3898	TT,TC,CC		16.1977,35.8829,22.8664	probably-damaging,probably-damaging	268/400,409/541	3846397	2974,10032	2203	4300	6503	SO:0001583	missense	57506	exon7			GCAGCTCTGAGAA	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1226C>T	20.37:g.3846397C>T	ENSP00000401980:p.Ser409Phe	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	97	52	0.536082	NM_020746	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	CCDS33437.1	415	0.190018315018315	195	0.39634146341463417	56	0.15469613259668508	59	0.10314685314685315	105	0.13852242744063326	C	12.98	2.101712	0.37048	0.358829	0.161977	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.36699	1.24;2.25	3.35	0.169	0.15017	.	4.947810	0.00166	N	0.000001	T	0.00012	0.0000	L	0.52573	1.65	0.80722	P	0.0	D	0.61697	0.99	D	0.64410	0.925	T	0.16897	-1.0387	9	0.44086	T	0.13	0.2835	3.8256	0.08853	0.0:0.5595:0.2022:0.2383	rs7269320;rs17857294;rs56601673;rs58912255;rs7269320	409	Q7Z434	MAVS_HUMAN	F	268;409	ENSP00000413749:S268F;ENSP00000401980:S409F	ENSP00000413749:S268F	S	+	2	0	MAVS	3794397	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.229000	0.09098	0.073000	0.16731	0.655000	0.94253	TCT	C|0.786;T|0.214	0.214	strong		0.622	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		T	3846397	C	T	3846397	3	4	22	1	0	0	0	0	1	0	0	0	9338	913	32	2	1248	2	MAVS	20	3846397	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	63695	3846397	59179123	10387	15495										
PRNP	5621	hgsc.bcm.edu	37	chr20	4680217	4680217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatggctggtgctgcagcAgctggggcagtggtgggggg	21	8	0	0	rs8124214	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:4680217A>G	ENST00000379440.4	+	2	638	c.351A>G	c.(349-351)gcA>gcG	p.A117A	PRNP_ENST00000430350.2_Silent_p.A117A	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GTGCTGCAGCAGCTGGGGCAG	0.577													A|||	195	0.0389377	0.0961	0.0274	5008	,	,		17693	0.0		0.0328	False		,,,				2504	0.0164				p.A117A		Atlas-SNP	.											.	PRNP	31	.	0			c.A351G						PASS	.	A	,,,,	360,4042		16,328,1857	56	48	51		351,351,351,351,351	-10.4	0.1	20	dbSNP_116	51	286,8310		5,276,4017	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	21,604,5874	GG,GA,AA		3.3271,8.1781,4.97	,,,,	117/254,117/254,117/254,117/254,117/254	4680217	646,12352	2201	4298	6499	SO:0001819	synonymous_variant	5621	exon2			TGCAGCAGCTGGG	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.351A>G	20.37:g.4680217A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	127	70	0.551181	NM_000311		Silent	SNP	ENST00000379440.4	37	CCDS13080.1																																																																																			A|0.956;G|0.044	0.044	strong		0.577	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		G	4680217	A	G	4680217	2	3	22	1	0	0	0	0	0	0	0	1	12544	175	7	3		3	PRNP	20	4680217	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	833820	4680217	58345303	10388	15496										
SLC23A2	9962	hgsc.bcm.edu	37	chr20	4843470	4843470	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacaggatccggaagggaCgcaaagagggcgctgaactt	15	9	0	2	rs34073337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:4843470C>A	ENST00000379333.1	-	14	1832	c.1440G>T	c.(1438-1440)gcG>gcT	p.A480A	SLC23A2_ENST00000424750.2_Silent_p.A366A|SLC23A2_ENST00000338244.1_Silent_p.A480A	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	480					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCGGAAGGGACGCAAAGAGGG	0.562													C|||	314	0.0626997	0.1233	0.0533	5008	,	,		16336	0.0		0.0666	False		,,,				2504	0.0481				p.A480A		Atlas-SNP	.											SLC23A2,caecum,carcinoma,0,2	SLC23A2	62	2	0			c.G1440T						PASS	.	C	,	490,3916	228.1+/-243.1	25,440,1738	68	67	67		1440,1440	-6.8	0.9	20	dbSNP_126	67	508,8092	144.0+/-200.0	16,476,3808	no	coding-synonymous,coding-synonymous	SLC23A2	NM_005116.5,NM_203327.1	,	41,916,5546	AA,AC,CC		5.907,11.1212,7.6734	,	480/651,480/651	4843470	998,12008	2203	4300	6503	SO:0001819	synonymous_variant	9962	exon14			AAGGGACGCAAAG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1440G>T	20.37:g.4843470C>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	14	0.378378	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	CCDS13085.1	120	0.054945054945054944	45	0.09146341463414634	22	0.06077348066298342	1	0.0017482517482517483	52	0.06860158311345646	C	1.669	-0.509488	0.04231	0.111212	0.05907	ENSG00000089057	ENST00000423430	.	.	.	5.61	-6.79	0.01715	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	P	0.9999999999999996	.	.	.	.	.	.	T	0.20706	-1.0267	3	.	.	.	-21.3707	2.9919	0.05986	0.1501:0.1241:0.4221:0.3037	rs34073337	.	.	.	F	237	.	.	V	-	1	0	SLC23A2	4791470	0.097000	0.21791	0.892000	0.35008	0.041000	0.13682	-0.896000	0.04114	-1.003000	0.03425	-0.972000	0.02603	GTC	C|0.930;A|0.070	0.070	strong		0.562	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			A	4843470	C	A	4843470	2	1	22	1	0	0	0	0	0	0	0	1	14463	523	19	4		4	SLC23A2	20	4843470	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	163253	4843470	58182050	10389	15497										
CDS2	8760	hgsc.bcm.edu	37	chr20	5166418	5166418	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacagctgtccccgaagaaGacctgggaaggcttcattgg	12	12	1	2	rs3818196	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5166418G>A	ENST00000460006.1	+	9	1081	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.K138K|CDS2_ENST00000535100.1_Silent_p.K79K	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	258					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCCCGAAGAAGACCTGGGAAG	0.483													G|||	251	0.0501198	0.0408	0.0274	5008	,	,		20392	0.0774		0.0109	False		,,,				2504	0.091				p.K258K		Atlas-SNP	.											.	CDS2	27	.	0			c.G774A						PASS	.	G		163,4243	109.5+/-147.8	1,161,2041	141	118	126		774	4.9	1	20	dbSNP_107	126	126,8474	64.9+/-127.2	2,122,4176	no	coding-synonymous	CDS2	NM_003818.3		3,283,6217	AA,AG,GG		1.4651,3.6995,2.2221		258/446	5166418	289,12717	2203	4300	6503	SO:0001819	synonymous_variant	8760	exon9			GAAGAAGACCTGG	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.774G>A	20.37:g.5166418G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	208	95	0.456731	NM_003818	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	CCDS13088.1																																																																																			G|0.966;A|0.034	0.034	strong		0.483	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			A	5166418	G	A	5166418	2	1	22	1	0	0	0	0	0	0	0	1	3178	933	33	2		2	CDS2	20	5166418	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	322948	5166418	57859102	10390	15498										
PROKR2	128674	hgsc.bcm.edu	37	chr20	5283051	5283051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggcagcgcagccgcttgcGaatctgctccgtctggaacc	13	15	2	0	rs148868355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5283051G>A	ENST00000217270.3	-	2	789	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PROKR2_ENST00000546004.1_Missense_Mutation_p.R264C	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	264					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCCGCTTGCGAATCTGCTCC	0.612										HNSCC(71;0.22)			G|||	4	0.000798722	0.003	0.0	5008	,	,		20081	0.0		0.0	False		,,,				2504	0.0				p.R264C		Atlas-SNP	.											.	PROKR2	90	.	0			c.C790T						PASS	.	G	CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	53	49	50		790	5.1	1	20	dbSNP_134	50	0,8600		0,0,4300	yes	missense	PROKR2	NM_144773.2	180	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	264/385	5283051	8,12998	2203	4300	6503	SO:0001583	missense	128674	exon2			GCTTGCGAATCTG	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.790C>T	20.37:g.5283051G>A	ENSP00000217270:p.Arg264Cys	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	78	37	0.474359	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.99	3.522846	0.64747	0.001816	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71069	-0.4699	10	0.72032	D	0.01	.	15.9064	0.79433	0.0:0.0:1.0:0.0	.	264	Q8NFJ6	PKR2_HUMAN	C	264	ENSP00000440790:R264C;ENSP00000217270:R264C	ENSP00000217270:R264C	R	-	1	0	PROKR2	5231051	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.754000	0.47532	2.370000	0.80446	0.655000	0.94253	CGC	G|0.999;A|0.001	0.001	strong		0.612	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5283051	G	A	5283051	3	1	22	1	0	0	0	0	1	0	0	0	12553	1058	37	1	367	1	PROKR2	20	5283051	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	116633	5283051	57742469	10391	15499										
PROKR2	128674	hgsc.bcm.edu	37	chr20	5283316	5283316	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggacaccatccagaccaaGgcgatcaggaaggaggccgt	13	11	1	1	rs3746683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5283316G>C	ENST00000217270.3	-	2	524	c.525C>G	c.(523-525)gcC>gcG	p.A175A	PROKR2_ENST00000546004.1_Silent_p.A175A	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCCAGACCAAGGCGATCAGGA	0.493										HNSCC(71;0.22)			G|||	493	0.0984425	0.1195	0.0793	5008	,	,		23135	0.0377		0.1362	False		,,,				2504	0.1074				p.A175A		Atlas-SNP	.											PROKR2,caecum,carcinoma,-2,3	PROKR2	90	3	0			c.C525G						PASS	.	G		548,3858	248.7+/-256.4	41,466,1696	140	146	144		525	-7.7	0.2	20	dbSNP_107	144	996,7604	215.6+/-254.9	60,876,3364	no	coding-synonymous	PROKR2	NM_144773.2		101,1342,5060	CC,CG,GG		11.5814,12.4376,11.8714		175/385	5283316	1544,11462	2203	4300	6503	SO:0001819	synonymous_variant	128674	exon2			GACCAAGGCGATC	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.525C>G	20.37:g.5283316G>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	104	48	0.461538	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	CCDS13089.1																																																																																			G|0.887;C|0.113	0.113	strong		0.493	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		C	5283316	G	C	5283316	2	2	22	1	0	0	0	0	0	0	0	1	12553	987	35	4		4	PROKR2	20	5283316	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	265	5283316	57742204	10392	15500										
GPCPD1	56261	hgsc.bcm.edu	37	chr20	5556512	5556512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctgctcatgatgggaagaGtaagaattccagcactcttt	9	8	3	3	rs2273373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5556512G>A	ENST00000379019.4	-	9	1030	c.818C>T	c.(817-819)aCt>aTt	p.T273I	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	273			T -> I (in dbSNP:rs2273373).		glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GATGGGAAGAGTAAGAATTCC	0.443													G|||	531	0.10603	0.2322	0.0648	5008	,	,		14547	0.1022		0.0318	False		,,,				2504	0.045				p.T273I		Atlas-SNP	.											GPCPD1,NS,carcinoma,+1,1	GPCPD1	52	1	0			c.C818T						PASS	.	G	ILE/THR	925,3481	355.4+/-313.0	93,739,1371	115	104	107		818	5.6	1	20	dbSNP_100	107	379,8221	122.9+/-181.8	16,347,3937	no	missense	GPCPD1	NM_019593.3	89	109,1086,5308	AA,AG,GG		4.407,20.9941,10.0261	possibly-damaging	273/673	5556512	1304,11702	2203	4300	6503	SO:0001583	missense	56261	exon9			GGAAGAGTAAGAA		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.818C>T	20.37:g.5556512G>A	ENSP00000368305:p.Thr273Ile	Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	325	147	0.452308	NM_019593	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	239	0.10943223443223443	128	0.2601626016260163	21	0.058011049723756904	64	0.11188811188811189	26	0.03430079155672823	G	22.0	4.234783	0.79800	0.209941	0.04407	ENSG00000125772	ENST00000379019	T	0.51325	0.71	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.32530	0.975	0.09310	P	0.999999629175	D	0.89917	1.0	D	0.69307	0.963	T	0.00970	-1.1496	9	0.37606	T	0.19	-17.0643	19.6443	0.95770	0.0:0.0:1.0:0.0	rs2273373	273	Q9NPB8	GPCP1_HUMAN	I	273	ENSP00000368305:T273I	ENSP00000368305:T273I	T	-	2	0	GPCPD1	5504512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.855000	0.86950	2.634000	0.89283	0.655000	0.94253	ACT	G|0.899;A|0.101	0.101	strong		0.443	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5556512	G	A	5556512	3	1	22	1	0	0	0	0	1	0	0	0	6603	1029	36	2	1248	2	GPCPD1	20	5556512	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	273196	5556512	57469008	10393	15501										
C20orf196	149840	hgsc.bcm.edu	37	chr20	5843812	5843812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattctatgaaatgtttggTcatccacagccaggctctgc	9	10	3	2	rs1699233	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5843812T>C	ENST00000303142.6	+	3	408	c.321T>C	c.(319-321)ggT>ggC	p.G107G		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	107										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AAATGTTTGGTCATCCACAGC	0.488													C|||	2169	0.433107	0.652	0.4121	5008	,	,		18382	0.3214		0.4294	False		,,,				2504	0.271				p.G107G		Atlas-SNP	.											.	C20orf196	17	.	0			c.T321C						PASS	.	C		2638,1768	522.8+/-370.9	787,1064,352	74	75	75		321	3.4	0	20	dbSNP_89	75	3698,4902	620.8+/-397.1	798,2102,1400	no	coding-synonymous	C20orf196	NM_152504.2		1585,3166,1752	CC,CT,TT		43.0,40.1271,48.716		107/206	5843812	6336,6670	2203	4300	6503	SO:0001819	synonymous_variant	149840	exon3			GTTTGGTCATCCA	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.321T>C	20.37:g.5843812T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	105	103	0.980952	NM_152504	A8K9J3|Q5TGA9|Q96LU1	Silent	SNP	ENST00000303142.6	37	CCDS13091.1																																																																																			T|0.525;C|0.475	0.475	strong		0.488	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		C	5843812	T	C	5843812	2	2	22	1	0	0	0	0	0	0	0	1	2101	1654	58	2		2	C20orf196	20	5843812	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	287300	5843812	57181708	10394	15502										
TRMT6	51605	hgsc.bcm.edu	37	chr20	5923203	5923203	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgctgtcttcattctcttgTtcagaagcctgtttttcctc					rs394940|rs35671838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5923203T>C	ENST00000203001.2	-	7	1027	c.897A>G	c.(895-897)gaA>gaG	p.E299E	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.E129E	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	299			E -> G (in dbSNP:rs451571). {ECO:0000269|PubMed:10810093, ECO:0000269|PubMed:14702039}.		regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CATTCTCTTGTTCAGAAGCCT	0.448													T|||	1480	0.295527	0.5628	0.245	5008	,	,		20654	0.1994		0.1074	False		,,,				2504	0.2628				p.E299E		Atlas-SNP	.											.	TRMT6	28	.	0			c.A897G						PASS	.	T		2134,2272		531,1072,600	154	149	151		897	-12.3	0	20	dbSNP_80	151	900,7700		55,790,3455	no	coding-synonymous	TRMT6	NM_015939.3		586,1862,4055	CC,CT,TT		10.4651,48.434,23.3277		299/498	5923203	3034,9972	2203	4300	6503	SO:0001819	synonymous_variant	51605	exon7			CTCTTGTTCAGAA	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.897A>G	20.37:g.5923203T>C		Somatic	362	2	0.00552486		WXS	Illumina HiSeq	Phase_I	342	339	0.991228	NM_015939	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	CCDS13093.1																																																																																			T|0.772;C|0.228	0.228	strong		0.448	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			C	5923203	T	C	5923203	2	2	22	1	0	0	0	0	0	0	0	1	16565	1722	60	2		2	TRMT6	20	5923203	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	79391	5923203	57102317	10395	15503	333	2								
TRMT6	51605	hgsc.bcm.edu	37	chr20	5923204	5923204	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgtcttcattctcttgtTcagaagcctgtttttcctcc					rs451571|rs35671838	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5923204T>C	ENST00000203001.2	-	7	1026	c.896A>G	c.(895-897)gAa>gGa	p.E299G	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.E129G	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	299			E -> G (in dbSNP:rs451571). {ECO:0000269|PubMed:10810093, ECO:0000269|PubMed:14702039}.		regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATTCTCTTGTTCAGAAGCCTG	0.448													T|||	1480	0.295527	0.5628	0.245	5008	,	,		20723	0.1994		0.1074	False		,,,				2504	0.2628				p.E299G		Atlas-SNP	.											.	TRMT6	28	.	0			c.A896G						PASS	.	T	GLY/GLU	2123,2283		531,1061,611	154	149	151		896	2.7	0	20	dbSNP_80	151	901,7699		55,791,3454	yes	missense	TRMT6	NM_015939.3	98	586,1852,4065	CC,CT,TT		10.4767,48.1843,23.2508	benign	299/498	5923204	3024,9982	2203	4300	6503	SO:0001583	missense	51605	exon7			TCTTGTTCAGAAG	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.896A>G	20.37:g.5923204T>C	ENSP00000203001:p.Glu299Gly	Somatic	360	2	0.00555556		WXS	Illumina HiSeq	Phase_I	342	341	0.997076	NM_015939	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	414	0.18956043956043955	195	0.39634146341463417	69	0.19060773480662985	87	0.1520979020979021	63	0.08311345646437995	T	11.54	1.669608	0.29693	0.481843	0.104767	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.25749	1.81;1.78	6.17	2.66	0.31614	.	0.698218	0.14363	N	0.324302	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.47433	-0.9118	9	0.25106	T	0.35	-21.1694	2.6528	0.05003	0.1871:0.0736:0.1922:0.5471	rs451571;rs57013611;rs451571	129;299	B4DUV6;Q9UJA5	.;TRM6_HUMAN	G	299;129	ENSP00000203001:E299G;ENSP00000392070:E129G	ENSP00000203001:E299G	E	-	2	0	TRMT6	5871204	0.005000	0.15991	0.016000	0.15963	0.980000	0.70556	1.292000	0.33342	1.152000	0.42452	0.533000	0.62120	GAA	T|0.756;C|0.244	0.244	strong		0.448	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			C	5923204	T	C	5923204	3	2	22	1	0	0	0	0	1	0	0	0	16565	1783	62	2	617	2	TRMT6	20	5923204	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	5923204	57102316	10396	15504	333	2								
MCM8	84515	hgsc.bcm.edu	37	chr20	5935303	5935303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagattcaagcatttgaaaaAtttttcacaaggcatattga	6	5	2	3	rs6117014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5935303A>C	ENST00000378896.3	+	4	680	c.303A>C	c.(301-303)aaA>aaC	p.K101N	MCM8_ENST00000265187.4_Missense_Mutation_p.K101N|MCM8_ENST00000378883.1_Missense_Mutation_p.K101N|MCM8_ENST00000378886.2_Missense_Mutation_p.K101N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	101			K -> N (in dbSNP:rs6117014).		cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CATTTGAAAAATTTTTCACAA	0.373													A|||	351	0.0700879	0.1626	0.1009	5008	,	,		19997	0.001		0.0199	False		,,,				2504	0.046				p.K101N		Atlas-SNP	.											.	MCM8	125	.	0			c.A303C						PASS	.	A	ASN/LYS,ASN/LYS	652,3750	276.0+/-272.9	51,550,1600	101	97	98		303,303	-10.4	0.5	20	dbSNP_114	98	183,8417	83.1+/-145.7	2,179,4119	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	94,94	53,729,5719	CC,CA,AA		2.1279,14.8114,6.4221	benign,benign	101/841,101/825	5935303	835,12167	2201	4300	6501	SO:0001583	missense	84515	exon4			TGAAAAATTTTTC	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.303A>C	20.37:g.5935303A>C	ENSP00000368174:p.Lys101Asn	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	145	0.06639194139194139	92	0.18699186991869918	29	0.08011049723756906	2	0.0034965034965034965	22	0.029023746701846966	A	11.02	1.515159	0.27123	0.148114	0.021279	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	5.37	-10.4	0.00318	Nucleic acid-binding, OB-fold-like (1);	0.302307	0.39475	N	0.001357	T	0.00012	0.0000	L	0.29908	0.895	0.27511	P	0.9516967	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.38265	-0.9669	9	0.11485	T	0.65	-1.2423	2.7834	0.05367	0.2356:0.137:0.3949:0.2325	rs6117014;rs52802444;rs6117014	101;101;101;101	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	101	ENSP00000368174:K101N;ENSP00000368161:K101N;ENSP00000368164:K101N;ENSP00000265187:K101N	ENSP00000265187:K101N	K	+	3	2	MCM8	5883303	0.041000	0.20044	0.522000	0.27862	0.993000	0.82548	-1.262000	0.02852	-1.754000	0.01321	-0.250000	0.11733	AAA	A|0.936;C|0.064	0.064	strong		0.373	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		C	5935303	A	C	5935303	3	2	22	1	0	0	0	0	1	0	0	0	9393	98	4	5	313	5	MCM8	20	5935303	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12099	5935303	57090217	10397	15505										
MCM8	84515	hgsc.bcm.edu	37	chr20	5943985	5943985	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctctcctctcacagttacGatggactggcagtcaatcaa	8	12	4	0	rs35102646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5943985G>A	ENST00000378896.3	+	8	1232	c.855G>A	c.(853-855)acG>acA	p.T285T	MCM8_ENST00000265187.4_Silent_p.T285T|Y_RNA_ENST00000384650.1_RNA|MCM8_ENST00000378883.1_Silent_p.T285T|MCM8_ENST00000378886.2_Silent_p.T285T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	285					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCACAGTTACGATGGACTGGC	0.408													A|||	49	0.00978435	0.0363	0.0014	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0				p.T285T		Atlas-SNP	.											.	MCM8	125	.	0			c.G855A						PASS	.	A	,	87,4319	818.4+/-416.3	0,87,2116	123	107	112		855,855	-8.8	0	20	dbSNP_126	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCM8	NM_032485.4,NM_182802.1	,	0,87,6416	AA,AG,GG		0.0,1.9746,0.6689	,	285/841,285/825	5943985	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	84515	exon8			AGTTACGATGGAC	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.855G>A	20.37:g.5943985G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	54	23	0.425926	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	CCDS13094.1																																																																																			G|0.992;A|0.008	0.008	strong		0.408	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		A	5943985	G	A	5943985	2	1	22	1	0	0	0	0	0	0	0	1	9393	1045	37	1		1	MCM8	20	5943985	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8682	5943985	57081535	10398	15506										
MCM8	84515	hgsc.bcm.edu	37	chr20	5974265	5974265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttatttctgctctcaacaAcgttgctgaaagaacttata	5	8	2	2	rs16991638	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:5974265A>G	ENST00000378896.3	+	18	2731	c.2354A>G	c.(2353-2355)aAc>aGc	p.N785S	MCM8_ENST00000265187.4_Missense_Mutation_p.N769S|MCM8_ENST00000378883.1_Missense_Mutation_p.N738S|MCM8_ENST00000378886.2_Missense_Mutation_p.N825S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	785			N -> S (in dbSNP:rs16991638).		cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GCTCTCAACAACGTTGCTGAA	0.358													A|||	378	0.0754792	0.1853	0.1009	5008	,	,		18096	0.001		0.0199	False		,,,				2504	0.0429				p.N785S		Atlas-SNP	.											.	MCM8	125	.	0			c.A2354G						PASS	.	A	SER/ASN,SER/ASN	703,3703	283.4+/-277.1	58,587,1558	57	62	61		2354,2306	0.4	1	20	dbSNP_123	61	181,8419	82.3+/-144.9	2,177,4121	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	46,46	60,764,5679	GG,GA,AA		2.1047,15.9555,6.7969	benign,benign	785/841,769/825	5974265	884,12122	2203	4300	6503	SO:0001583	missense	84515	exon18			TCAACAACGTTGC	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2354A>G	20.37:g.5974265A>G	ENSP00000368174:p.Asn785Ser	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	48	17	0.354167	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	128	0.05860805860805861	86	0.17479674796747968	26	0.0718232044198895	1	0.0017482517482517483	15	0.01978891820580475	A	9.100	1.003892	0.19199	0.159555	0.021047	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.02812	4.25;4.15;4.23;4.25	5.82	0.411	0.16392	.	0.769958	0.13000	N	0.421768	T	0.00012	0.0000	N	0.01576	-0.805	0.54753	P	1.3000000000040757E-5	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.45056	-0.9287	9	0.17832	T	0.49	-3.3433	6.6121	0.22757	0.2319:0.3374:0.4307:0.0	rs16991638;rs56419414;rs16991638	738;825;769;785	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	S	785;738;825;769	ENSP00000368174:N785S;ENSP00000368161:N738S;ENSP00000368164:N825S;ENSP00000265187:N769S	ENSP00000265187:N769S	N	+	2	0	MCM8	5922265	0.001000	0.12720	0.997000	0.53966	0.995000	0.86356	-0.073000	0.11468	0.055000	0.16094	0.533000	0.62120	AAC	A|0.934;G|0.066	0.066	strong		0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		G	5974265	A	G	5974265	3	3	22	1	0	0	0	0	1	0	0	0	9393	43	2	2	2420	2	MCM8	20	5974265	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	30280	5974265	57051255	10399	15507										
LRRN4	164312	hgsc.bcm.edu	37	chr20	6021703	6021703	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccccagcgggtaatcatCaaaggccgggtttttgtagg	14	9	2	0	rs116777692	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:6021703C>T	ENST00000378858.4	-	5	2412	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	730					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGTAATCATCAAAGGCCGGG	0.612													C|||	25	0.00499201	0.0189	0.0	5008	,	,		17219	0.0		0.0	False		,,,				2504	0.0				p.D730N		Atlas-SNP	.											.	LRRN4	54	.	0			c.G2188A						PASS	.	C	ASN/ASP	144,4262	91.6+/-130.3	3,138,2062	37	36	36		2188	2	0	20	dbSNP_132	36	1,8599		0,1,4299	yes	missense	LRRN4	NM_152611.3	23	3,139,6361	TT,TC,CC		0.0116,3.2683,1.1149	benign	730/741	6021703	145,12861	2203	4300	6503	SO:0001583	missense	164312	exon5			AATCATCAAAGGC	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.2188G>A	20.37:g.6021703C>T	ENSP00000368135:p.Asp730Asn	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	198	78	0.393939	NM_152611	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	CCDS13097.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	13.49	2.252207	0.39797	0.032683	1.16E-4	ENSG00000125872	ENST00000378858	T	0.61392	0.11	3.97	2.01	0.26516	.	0.648332	0.14770	N	0.299431	T	0.16514	0.0397	N	0.19112	0.55	0.09310	N	1	P	0.44877	0.845	B	0.43478	0.421	T	0.07366	-1.0776	10	0.09590	T	0.72	.	8.1533	0.31154	0.0:0.7545:0.1586:0.0869	.	730	Q8WUT4	LRRN4_HUMAN	N	730	ENSP00000368135:D730N	ENSP00000368135:D730N	D	-	1	0	LRRN4	5969703	0.075000	0.21258	0.001000	0.08648	0.305000	0.27757	1.403000	0.34612	0.618000	0.30179	0.655000	0.94253	GAT	C|0.990;T|0.010	0.010	strong		0.612	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		T	6021703	C	T	6021703	3	4	22	1	0	0	0	0	1	0	0	0	9037	826	29	2	38	2	LRRN4	20	6021703	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	47438	6021703	57003817	10400	15508										
LRRN4	164312	hgsc.bcm.edu	37	chr20	6032882	6032882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacgccgcctcggcgatgccCccctgggctccgcgacccag	12	20	0	0	rs6053858	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:6032882C>T	ENST00000378858.4	-	2	788	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	188					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGGCGATGCCCCCCTGGGCTC	0.716													C|||	462	0.0922524	0.3298	0.036	5008	,	,		13542	0.0		0.0	False		,,,				2504	0.001				p.G188G		Atlas-SNP	.											.	LRRN4	54	.	0			c.G564A						PASS	.	C		963,3055		99,765,1145	6	5	5		564	-6.5	0	20	dbSNP_114	5	20,7954		1,18,3968	no	coding-synonymous	LRRN4	NM_152611.3		100,783,5113	TT,TC,CC		0.2508,23.9671,8.1971		188/741	6032882	983,11009	2009	3987	5996	SO:0001819	synonymous_variant	164312	exon2			GATGCCCCCCTGG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.564G>A	20.37:g.6032882C>T		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	19	9	0.473684	NM_152611	A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	CCDS13097.1																																																																																			C|0.909;T|0.091	0.091	strong		0.716	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		T	6032882	C	T	6032882	2	4	22	1	0	0	0	0	0	0	0	1	9037	610	22	2		2	LRRN4	20	6032882	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11179	6032882	56992638	10401	15509										
FERMT1	55612	hgsc.bcm.edu	37	chr20	6091083	6091085	+	In_Frame_Del	DEL	ATG	ATG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgtcactgaaccaagtcAtggtggatgatgctggtgtt					rs150175364		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:6091083_6091085delATG	ENST00000217289.4	-	5	1394_1396	c.606_608delCAT	c.(604-609)accatg>acg	p.M203del	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	203	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GAACCAAGTCATGGTGGATGATG	0.498																																					p.203_203del		Pindel,Atlas-Indel	.											.	FERMT1	106	.	0			c.607_609del						PASS	.			23,4241		0,23,2109						1.5	1		dbSNP_134	224	0,8254		0,0,4127	no	coding	FERMT1	NM_017671.4		0,23,6236	A1A1,A1R,RR		0.0,0.5394,0.1837				23,12495				SO:0001651	inframe_deletion	55612	exon5			.	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.606_608delCAT	20.37:g.6091083_6091085delATG	ENSP00000217289:p.Met203del	Somatic	221	.	.		WXS	Illumina HiSeq	Phase_I	209	68	0.325	NM_017671	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	In_Frame_Del	DEL	ENST00000217289.4	37	CCDS13098.1																																																																																			.	.	strong		0.498	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		-	6091085	ATG	-	6091083	7	5	22	1	0	1	0	1	0	0	0	0	5817	217	8	0	1469	0	FERMT1	20	6091083	In_Frame_Del	DEL	ATG	TCGA-G8-6324-01A-11D-2210-10	58201	6091083	56934437	10402	15510										
HAO1	54363	hgsc.bcm.edu	37	chr20	7920986	7920986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttcatcatttgccccagaCctgtaatagtcatatataga	5	10	4	2	rs33931524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:7920986C>T	ENST00000378789.3	-	1	135	c.84G>A	c.(82-84)agG>agA	p.R28R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	28	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGCCCCAGACCTGTAATAGT	0.318													C|||	161	0.0321486	0.1082	0.0187	5008	,	,		17203	0.0		0.003	False		,,,				2504	0.002				p.R28R		Atlas-SNP	.											.	HAO1	71	.	0			c.G84A						PASS	.	C		456,3950	215.1+/-234.2	17,422,1764	70	70	70		84	-3.4	0.8	20	dbSNP_126	70	41,8559	25.7+/-73.6	0,41,4259	no	coding-synonymous	HAO1	NM_017545.2		17,463,6023	TT,TC,CC		0.4767,10.3495,3.8213		28/371	7920986	497,12509	2203	4300	6503	SO:0001819	synonymous_variant	54363	exon1			CCCAGACCTGTAA	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.84G>A	20.37:g.7920986C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	98	53	0.540816	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	CCDS13100.1																																																																																			C|0.966;T|0.034	0.034	strong		0.318	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			T	7920986	C	T	7920986	2	4	22	1	0	0	0	0	0	0	0	1	6951	506	18	2		2	HAO1	20	7920986	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1829903	7920986	55104534	10403	15511										
TMX4	56255	hgsc.bcm.edu	37	chr20	7963041	7963041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggtcacaccgtcctctcCtgggggcccctgatcattgg	12	16	3	1	rs2076015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:7963041C>T	ENST00000246024.2	-	8	1122	c.907G>A	c.(907-909)Gga>Aga	p.G303R		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	303	Glu-rich.		G -> R (in dbSNP:rs2076015). {ECO:0000269|PubMed:15489334}.		cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CCGTCCTCTCCTGGGGGCCCC	0.582													C|||	1773	0.354034	0.6483	0.2334	5008	,	,		16298	0.5883		0.0726	False		,,,				2504	0.09				p.G303R		Atlas-SNP	.											.	TMX4	39	.	0			c.G907A						PASS	.	C	ARG/GLY	2456,1950	623.1+/-394.1	683,1090,430	140	123	129		907	-0.6	0	20	dbSNP_96	129	581,8019	156.0+/-209.9	22,537,3741	yes	missense	TMX4	NM_021156.2	125	705,1627,4171	TT,TC,CC		6.7558,44.2578,23.3508	benign	303/350	7963041	3037,9969	2203	4300	6503	SO:0001583	missense	56255	exon8			CCTCTCCTGGGGG		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.907G>A	20.37:g.7963041C>T	ENSP00000246024:p.Gly303Arg	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	177	175	0.988701	NM_021156	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	764	0.3498168498168498	308	0.6260162601626016	73	0.20165745856353592	325	0.5681818181818182	58	0.07651715039577836	C	2.423	-0.332568	0.05314	0.557422	0.067558	ENSG00000125827	ENST00000246024	T	0.09255	3.0	5.72	-0.564	0.11774	.	0.974158	0.08471	N	0.940949	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	9	0.10111	T	0.7	0.0112	5.9282	0.19124	0.0:0.2476:0.1306:0.6218	rs2076015;rs17846062;rs17859056;rs52797785;rs60332072;rs2076015	303	Q9H1E5	TMX4_HUMAN	R	303	ENSP00000246024:G303R	ENSP00000246024:G303R	G	-	1	0	TMX4	7911041	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.068000	0.03447	-0.104000	0.12154	-1.353000	0.01230	GGA	C|0.693;T|0.307	0.307	strong		0.582	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		T	7963041	C	T	7963041	3	4	22	1	0	0	0	0	1	0	0	0	16266	690	24	2	146	2	TMX4	20	7963041	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42055	7963041	55062479	10404	15512										
PLCB1	23236	hgsc.bcm.edu	37	chr20	8770822	8770822	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttgtaactttcttatagCtagaagaagcgcaaagtaaa	7	6	2	2	rs2294597	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:8770822C>T	ENST00000338037.6	+	31	3364	c.3337C>T	c.(3337-3339)Cta>Tta	p.L1113L	PLCB1_ENST00000378641.3_Splice_Site_p.L1113L|PLCB1_ENST00000378637.2_Splice_Site_p.L1113L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1113					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTCTTATAGCTAGAAGAAGC	0.368													C|||	1145	0.228634	0.1263	0.2219	5008	,	,		19106	0.1329		0.3022	False		,,,				2504	0.3947				p.G1113X		Atlas-SNP	.											.	PLCB1	394	.	0			c.G3337T						PASS	.	C	,	622,3784	259.2+/-262.9	54,514,1635	47	47	47		3337,3337	3.3	1	20	dbSNP_100	47	2673,5927	408.4+/-349.5	451,1771,2078	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	PLCB1	NM_015192.2,NM_182734.1	,	505,2285,3713	TT,TC,CC		31.0814,14.1171,25.3345	,	1113/1217,1113/1174	8770822	3295,9711	2203	4300	6503	SO:0001630	splice_region_variant	23236	exon31			TTATAGCTAGAAG	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3337-1C>T	20.37:g.8770822C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																			C|0.774;T|0.226	0.226	strong		0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Silent	T	8770822	C	T	8770822	5	4	22	1	0	0	0	0	0	0	1	0	12027	811	28	2	3459	2	PLCB1	20	8770822	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	807781	8770822	54254698	10405	15513										
PAK7	57144	hgsc.bcm.edu	37	chr20	9543622	9543622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcgccgacaaggtagctgCtgtacatgtcaaccacattg	9	12	1	0	rs2297345	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:9543622C>T	ENST00000378429.3	-	7	2078	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N	PAK7_ENST00000378423.1_Missense_Mutation_p.S511N|PAK7_ENST00000353224.5_Missense_Mutation_p.S511N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs2297345). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGGTAGCTGCTGTACATGTC	0.463													T|||	2577	0.514577	0.8782	0.3833	5008	,	,		19708	0.5427		0.3151	False		,,,				2504	0.2924				p.S511N		Atlas-SNP	.											.	PAK7	194	.	0			c.G1532A						PASS	.	T	ASN/SER,ASN/SER	3483,923	353.3+/-312.1	1393,697,113	191	170	177		1532,1532	5.9	1	20	dbSNP_100	177	2654,5946	686.2+/-404.1	409,1836,2055	yes	missense,missense	PAK7	NM_020341.3,NM_177990.2	46,46	1802,2533,2168	TT,TC,CC		30.8605,20.9487,47.1859	benign,benign	511/720,511/720	9543622	6137,6869	2203	4300	6503	SO:0001583	missense	57144	exon6			TAGCTGCTGTACA	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1532G>A	20.37:g.9543622C>T	ENSP00000367686:p.Ser511Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	97	56	0.57732	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	1126	0.5155677655677655	429	0.8719512195121951	149	0.4116022099447514	312	0.5454545454545454	236	0.3113456464379947	T	9.638	1.138248	0.21123	0.790513	0.308605	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.13657	2.57;2.57;2.57	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	0.85682	N	0.000000	T	0.00012	0.0000	L	0.33189	0.99	0.37336	P	0.08982500000000004	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11966	-1.0566	8	.	.	.	.	12.3288	0.55026	0.0:0.0658:0.0:0.9342	rs2297345;rs61006606;rs2297345	511;511	B0AZM9;Q9P286	.;PAK7_HUMAN	N	511;511;511;459	ENSP00000367686:S511N;ENSP00000322957:S511N;ENSP00000367679:S511N	.	S	-	2	0	PAK7	9491622	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.239000	0.72356	1.158000	0.42547	-0.254000	0.11334	AGC	C|0.503;T|0.497	0.497	strong		0.463	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			T	9543622	C	T	9543622	3	4	22	1	0	0	0	0	1	0	0	0	11405	797	28	2	647	2	PAK7	20	9543622	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	772800	9543622	53481898	10406	15514										
MKKS	8195	hgsc.bcm.edu	37	chr20	10394046	10394046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctgcttcagcctacctgaGgggccatagcatgatgttac	11	11	1	2	rs16991547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:10394046G>A	ENST00000347364.3	-	3	879	c.117C>T	c.(115-117)ccC>ccT	p.P39P	MKKS_ENST00000399054.2_Silent_p.P39P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	39					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.P39P(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GCCTACCTGAGGGGCCATAGC	0.478													A|||	1194	0.238419	0.3744	0.1268	5008	,	,		19525	0.2579		0.0895	False		,,,				2504	0.2669				p.P39P	Melanoma(79;1979 2212 6640)	Atlas-SNP	.											MKKS,NS,carcinoma,0,1	MKKS	35	1	1	Substitution - coding silent(1)	stomach(1)	c.C117T						PASS	.	A	,	1360,3046	691.1+/-405.3	212,936,1055	150	130	137	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	117,117	-1.4	0.2	20	dbSNP_123	137	969,7631	774.1+/-407.7	65,839,3396	no	coding-synonymous,coding-synonymous	MKKS	NM_018848.2,NM_170784.1	,	277,1775,4451	AA,AG,GG		11.2674,30.867,17.9071	,	39/571,39/571	10394046	2329,10677	2203	4300	6503	SO:0001819	synonymous_variant	8195	exon3			ACCTGAGGGGCCA	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.117C>T	20.37:g.10394046G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	109	52	0.477064	NM_170784	A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	CCDS13111.1																																																																																			G|0.800;A|0.200	0.200	strong		0.478	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			A	10394046	G	A	10394046	2	1	22	1	0	0	0	0	0	0	0	1	9600	987	35	2		2	MKKS	20	10394046	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	850424	10394046	52631474	10407	15515										
JAG1	182	hgsc.bcm.edu	37	chr20	10620386	10620386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attttggagttcttgttctcAtaatccttgatggggaccgt	10	7	2	1	rs1051419	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:10620386A>G	ENST00000254958.5	-	26	3932	c.3417T>C	c.(3415-3417)taT>taC	p.Y1139Y	JAG1_ENST00000423891.2_Silent_p.Y980Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1139					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.Y1139Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTTGTTCTCATAATCCTTGA	0.483									Alagille Syndrome				G|||	3569	0.71266	0.9289	0.6326	5008	,	,		19004	0.494		0.6481	False		,,,				2504	0.7689				p.Y1139Y		Atlas-SNP	.											JAG1_ENST00000254958,NS,carcinoma,0,1	JAG1	213	1	1	Substitution - coding silent(1)	stomach(1)	c.T3417C						PASS	.	G		3962,444	214.8+/-234.0	1781,400,22	149	147	148		3417	-1.1	1	20	dbSNP_86	148	5496,3104	474.2+/-368.8	1737,2022,541	no	coding-synonymous	JAG1	NM_000214.2		3518,2422,563	GG,GA,AA		36.093,10.0772,27.2797		1139/1219	10620386	9458,3548	2203	4300	6503	SO:0001819	synonymous_variant	182	exon26	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GTTCTCATAATCC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3417T>C	20.37:g.10620386A>G		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	330	329	0.99697	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			G|0.694;C|0.000;A|0.306	0.694	strong		0.483	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		G	10620386	A	G	10620386	2	3	22	1	0	0	0	0	0	0	0	1	7934	224	8	2		2	JAG1	20	10620386	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	226340	10620386	52405134	10408	15516										
JAG1	182	hgsc.bcm.edu	37	chr20	10624502	10624502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctccatccacacaggtgccGctgttgtaactaagaaagca	8	12	1	1	rs56225585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:10624502G>A	ENST00000254958.5	-	20	2897	c.2382C>T	c.(2380-2382)agC>agT	p.S794S	JAG1_ENST00000423891.2_Silent_p.S635S|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	794	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTGCCGCTGTTGTAAC	0.522									Alagille Syndrome				G|||	475	0.0948482	0.3396	0.0375	5008	,	,		16433	0.0		0.0	False		,,,				2504	0.0				p.S794S		Atlas-SNP	.											.	JAG1	213	.	0			c.C2382T						PASS	.	G		1227,3179	422.3+/-339.7	166,895,1142	72	60	64		2382	-5.8	0.8	20	dbSNP_129	64	22,8578	15.3+/-51.7	0,22,4278	no	coding-synonymous	JAG1	NM_000214.2		166,917,5420	AA,AG,GG		0.2558,27.8484,9.6033		794/1219	10624502	1249,11757	2203	4300	6503	SO:0001819	synonymous_variant	182	exon20	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGTGCCGCTGTTG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2382C>T	20.37:g.10624502G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			G|0.914;A|0.086	0.086	strong		0.522	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		A	10624502	G	A	10624502	2	1	22	1	0	0	0	0	0	0	0	1	7934	1078	38	1		1	JAG1	20	10624502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4116	10624502	52401018	10409	15517										
JAG1	182	hgsc.bcm.edu	37	chr20	10639222	10639222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggcggcagaacttattGcagccaaagccatagtagta	12	9	0	1	rs1801138	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:10639222G>A	ENST00000254958.5	-	4	1103	c.588C>T	c.(586-588)tgC>tgT	p.C196C	JAG1_ENST00000423891.2_Silent_p.C37C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	196	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGAACTTATTGCAGCCAAAGC	0.537									Alagille Syndrome				G|||	911	0.181909	0.2542	0.1311	5008	,	,		19308	0.2192		0.0408	False		,,,				2504	0.227				p.C196C		Atlas-SNP	.											.	JAG1	213	.	0			c.C588T	GRCh37	CM061817	JAG1	M	rs1801138	PASS	.	G		961,3445	364.6+/-317.1	104,753,1346	153	133	140		588	1.5	1	20	dbSNP_89	140	391,8209	126.0+/-184.5	10,371,3919	no	coding-synonymous	JAG1	NM_000214.2		114,1124,5265	AA,AG,GG		4.5465,21.8112,10.3952		196/1219	10639222	1352,11654	2203	4300	6503	SO:0001819	synonymous_variant	182	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	CTTATTGCAGCCA	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.588C>T	20.37:g.10639222G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	149	76	0.510067	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			G|0.841;A|0.159	0.159	strong		0.537	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		A	10639222	G	A	10639222	2	1	22	1	0	0	0	0	0	0	0	1	7934	1311	46	2		2	JAG1	20	10639222	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14720	10639222	52386298	10410	15518										
BTBD3	22903	hgsc.bcm.edu	37	chr20	11903654	11903654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccaacgacaagatctggcGttgagcattgaaaataaacg	10	8	1	3	rs35364034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:11903654G>A	ENST00000405977.1	+	5	1534	c.909G>A	c.(907-909)gcG>gcA	p.A303A	BTBD3_ENST00000399006.2_Silent_p.A242A|BTBD3_ENST00000254977.3_Silent_p.A242A|BTBD3_ENST00000378226.2_Silent_p.A303A	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	303					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAGATCTGGCGTTGAGCATTG	0.448													G|||	478	0.0954473	0.0371	0.0706	5008	,	,		22219	0.2054		0.0368	False		,,,				2504	0.1391				p.A303A		Atlas-SNP	.											BTBD3,caecum,carcinoma,+1,4	BTBD3	92	4	0			c.G909A						scavenged	.	G	,	186,4220	118.4+/-156.1	4,178,2021	106	106	106		909,726	-2.5	0.1	20	dbSNP_126	106	424,8176	131.8+/-189.6	10,404,3886	no	coding-synonymous,coding-synonymous	BTBD3	NM_014962.2,NM_181443.1	,	14,582,5907	AA,AG,GG		4.9302,4.2215,4.6901	,	303/523,242/462	11903654	610,12396	2203	4300	6503	SO:0001819	synonymous_variant	22903	exon4			TCTGGCGTTGAGC	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.909G>A	20.37:g.11903654G>A		Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	157	87	0.55414	NM_014962	D3DW19|Q5JY73	Silent	SNP	ENST00000405977.1	37	CCDS13113.1																																																																																			G|0.944;A|0.056	0.056	strong		0.448	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			A	11903654	G	A	11903654	2	1	22	1	0	0	0	0	0	0	0	1	1544	1132	40	1		1	BTBD3	20	11903654	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1264432	11903654	51121866	10411	15519										
C20orf7	79133	hgsc.bcm.edu	37	chr20	13797179	13797179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacacaatgctggcagctgcGgcagtgtacagaggtaaggg	16	8	0	1	rs34901599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:13797179G>A	ENST00000378106.5	+	9	968	c.849G>A	c.(847-849)gcG>gcA	p.A283A	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Silent_p.A255A	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	283					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										TGGCAGCTGCGGCAGTGTACA	0.493													G|||	228	0.0455272	0.1619	0.0101	5008	,	,		17420	0.0		0.007	False		,,,				2504	0.0				p.A283A		Atlas-SNP	.											.	.	.	.	0			c.G849A						PASS	.	G	,	560,3846	249.0+/-256.6	25,510,1668	114	98	104		765,849	-11.2	0	20	dbSNP_126	104	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous,coding-synonymous	C20orf7	NM_001039375.2,NM_024120.4	,	25,520,5958	AA,AG,GG		0.1163,12.7099,4.3826	,	255/318,283/346	13797179	570,12436	2203	4300	6503	SO:0001819	synonymous_variant	79133	exon9			AGCTGCGGCAGTG		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"Mitochondrial respiratory chain complex assembly factors"	15899	protein-coding gene	gene with protein product		612360	"chromosome 20 open reading frame 7"	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.849G>A	20.37:g.13797179G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	94	45	0.478723	NM_024120	A8K166|Q6GPH3|Q9H6F4	Silent	SNP	ENST00000378106.5	37	CCDS13118.1																																																																																			G|0.960;A|0.040	0.040	strong		0.493	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		A	13797179	G	A	13797179	2	1	22	1	0	0	0	0	0	0	0	1	2115	1103	39	1		1	C20orf7	20	13797179	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1893525	13797179	49228341	10412	15520										
MACROD2	140733	hgsc.bcm.edu	37	chr20	14066276	14066276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctattacagaagaaaataCtcaggaaacatcccaggtga	7	8	2	3	rs2990505	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:14066276C>T	ENST00000310348.4	+	3	173	c.173C>T	c.(172-174)aCt>aTt	p.T58I	MACROD2_ENST00000217246.4_Missense_Mutation_p.T58I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	58			T -> I (in dbSNP:rs2990505). {ECO:0000269|PubMed:14702039}.		brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T58I(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGAAAATACTCAGGAAACA	0.313													C|||	1291	0.257788	0.3056	0.2983	5008	,	,		12783	0.1895		0.2346	False		,,,				2504	0.2587				p.T58I		Atlas-SNP	.											C20orf133,NS,carcinoma,0,1	MACROD2	34	1	1	Substitution - Missense(1)	stomach(1)	c.C173T						scavenged	.	C	ILE/THR	1061,2531		162,737,897	59	54	55		173	4.8	1	20	dbSNP_101	55	1704,6412		192,1320,2546	yes	missense	MACROD2	NM_080676.5	89	354,2057,3443	TT,TC,CC		20.9956,29.5379,23.6163	benign	58/426	14066276	2765,8943	1796	4058	5854	SO:0001583	missense	140733	exon3			AAAATACTCAGGA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.173C>T	20.37:g.14066276C>T	ENSP00000309809:p.Thr58Ile	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	109	44	0.40367	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	542	0.24816849816849818	158	0.32113821138211385	98	0.27071823204419887	114	0.1993006993006993	172	0.22691292875989447	C	12.51	1.960781	0.34565	0.295379	0.209956	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.39997	1.05;1.05	5.76	4.81	0.61882	.	1.553840	0.03488	N	0.216141	T	0.00012	0.0000	L	0.36672	1.1	0.09310	P	0.9999999999999948	B;B	0.26975	0.099;0.165	B;B	0.30105	0.015;0.111	T	0.06826	-1.0805	9	0.48119	T	0.1	0.6917	12.9468	0.58376	0.0:0.9198:0.0:0.0802	rs2990505;rs52812396;rs59845301;rs2990505	58;58	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	I	58	ENSP00000217246:T58I;ENSP00000309809:T58I	ENSP00000217246:T58I	T	+	2	0	MACROD2	14014276	0.996000	0.38824	0.985000	0.45067	0.976000	0.68499	2.427000	0.44740	2.724000	0.93272	0.585000	0.79938	ACT	C|0.749;T|0.251	0.251	strong		0.313	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	14066276	C	T	14066276	3	4	22	1	0	0	0	0	1	0	0	0	9146	565	20	2	183	2	MACROD2	20	14066276	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	269097	14066276	48959244	10413	15521										
KIF16B	55614	hgsc.bcm.edu	37	chr20	16352401	16352401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcttcttcaatgtaagcaTtgatcctgtaacacaatgga	6	9	3	1	rs8123195	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:16352401T>C	ENST00000354981.2	-	21	3513	c.3356A>G	c.(3355-3357)aAt>aGt	p.N1119S	KIF16B_ENST00000355755.3_Missense_Mutation_p.N1119S|KIF16B_ENST00000378003.2_Missense_Mutation_p.N345S|KIF16B_ENST00000408042.1_Missense_Mutation_p.N1119S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1119			N -> S (in dbSNP:rs8123195).		ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AATGTAAGCATTGATCCTGTA	0.453													T|||	292	0.0583067	0.1717	0.0274	5008	,	,		19239	0.001		0.0099	False		,,,				2504	0.0358				p.N1119S		Atlas-SNP	.											.	KIF16B	305	.	0			c.A3356G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN	765,3641	311.4+/-292.0	66,633,1504	164	136	145		3203,3356,3356	-3.9	0.9	20	dbSNP_116	145	51,8549	32.3+/-84.9	0,51,4249	yes	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	46,46,46	66,684,5753	CC,CT,TT		0.593,17.3627,6.274	benign,benign,benign	1068/1267,1119/1393,1119/1318	16352401	816,12190	2203	4300	6503	SO:0001583	missense	55614	exon21			TAAGCATTGATCC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3356A>G	20.37:g.16352401T>C	ENSP00000347076:p.Asn1119Ser	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	132	65	0.492424	NM_001199866	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	93	0.042582417582417584	81	0.16463414634146342	6	0.016574585635359115	0	0.0	6	0.0079155672823219	T	11.33	1.605795	0.28623	0.173627	0.00593	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.72282	-0.62;-0.64;2.42;-0.64	5.8	-3.88	0.04205	.	0.422796	0.28718	N	0.014372	T	0.00178	0.0005	N	0.12471	0.22	0.42344	P	0.007653000000000021	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.03403	-1.1040	9	0.24483	T	0.36	.	12.6412	0.56711	0.0:0.4037:0.0:0.5963	rs8123195;rs52832260;rs8123195	1119;1119;1119	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	S	1119;1119;963;345;1119	ENSP00000347076:N1119S;ENSP00000347995:N1119S;ENSP00000367242:N345S;ENSP00000384164:N1119S	ENSP00000347076:N1119S	N	-	2	0	KIF16B	16300401	0.999000	0.42202	0.900000	0.35374	0.928000	0.56348	0.441000	0.21611	-1.084000	0.03092	-0.263000	0.10527	AAT	T|0.940;C|0.060	0.060	strong		0.453	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		C	16352401	T	C	16352401	3	2	22	1	0	0	0	0	1	0	0	0	8278	1493	52	2	621	2	KIF16B	20	16352401	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2286125	16352401	46673119	10414	15522										
KIF16B	55614	hgsc.bcm.edu	37	chr20	16492163	16492163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacacgttcgttataaatTtctaagtagctaaaaattta	4	7	2	0	rs16997775	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:16492163T>C	ENST00000354981.2	-	6	613	c.456A>G	c.(454-456)gaA>gaG	p.E152E	KIF16B_ENST00000355755.3_Silent_p.E152E|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.E152E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	152	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGTTATAAATTTCTAAGTAGC	0.353													T|||	114	0.0227636	0.084	0.0029	5008	,	,		17037	0.0		0.001	False		,,,				2504	0.0				p.E152E		Atlas-SNP	.											.	KIF16B	305	.	0			c.A456G						PASS	.	T	,,	254,4152	141.9+/-177.2	7,240,1956	43	43	43		456,456,456	3.2	1	20	dbSNP_123	43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	,,	7,241,6255	CC,CT,TT		0.0116,5.7649,1.9606	,,	152/1267,152/1393,152/1318	16492163	255,12751	2203	4300	6503	SO:0001819	synonymous_variant	55614	exon6			ATAAATTTCTAAG	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.456A>G	20.37:g.16492163T>C		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	50	21	0.42	NM_001199865	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																			T|0.978;C|0.022	0.022	strong		0.353	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		C	16492163	T	C	16492163	2	2	22	1	0	0	0	0	0	0	0	1	8278	1838	64	2		2	KIF16B	20	16492163	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139762	16492163	46533357	10415	15523										
SNX5	27131	hgsc.bcm.edu	37	chr20	17923043	17923043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacagctctgcaaaagggaGacattgttctgtggggaaaa	12	6	2	1	rs17349809	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:17923043G>A	ENST00000377768.3	-	14	1485	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	SNX5_ENST00000377759.4_Silent_p.V391V|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	391	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GCAAAAGGGAGACATTGTTCT	0.408													G|||	148	0.0295527	0.1097	0.0014	5008	,	,		18450	0.0		0.001	False		,,,				2504	0.001				p.V391V		Atlas-SNP	.											.	SNX5	38	.	0			c.C1173T						PASS	.	G	,	452,3954	217.8+/-236.0	19,414,1770	111	101	105		1173,1173	1	1	20	dbSNP_123	105	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	SNX5	NM_014426.2,NM_152227.1	,	19,418,6066	AA,AG,GG		0.0465,10.2587,3.5061	,	391/405,391/405	17923043	456,12550	2203	4300	6503	SO:0001819	synonymous_variant	27131	exon13			AAGGGAGACATTG	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1173C>T	20.37:g.17923043G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	125	66	0.528	NM_014426	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	CCDS13130.1																																																																																			G|1.000;|0.000	.	weak		0.408	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			A	17923043	G	A	17923043	2	1	22	1	0	0	0	0	0	0	0	1	14905	929	33	2		2	SNX5	20	17923043	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1430880	17923043	45102477	10416	15524										
CSRP2BP	57325	hgsc.bcm.edu	37	chr20	18142564	18142564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatggaattaaaagagaaAaggtctcgaactcaggaagc	11	7	2	1	rs3828013	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:18142564A>G	ENST00000435364.3	+	5	1124	c.783A>G	c.(781-783)aaA>aaG	p.K261K	CSRP2BP_ENST00000377681.3_Silent_p.K260K|CSRP2BP_ENST00000489634.2_Silent_p.K133K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	261					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.K261K(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TAAAAGAGAAAAGGTCTCGAA	0.443													A|||	590	0.117812	0.0446	0.1455	5008	,	,		18468	0.1349		0.1302	False		,,,				2504	0.1667				p.K261K		Atlas-SNP	.											CSRP2BP,NS,carcinoma,0,2	CSRP2BP	80	2	2	Substitution - coding silent(2)	prostate(1)|stomach(1)	c.A783G						PASS	.	A		317,4089	160.3+/-192.7	17,283,1903	119	138	132		783	-1	0.9	20	dbSNP_107	132	1067,7533	219.9+/-257.8	71,925,3304	no	coding-synonymous	CSRP2BP	NM_020536.4		88,1208,5207	GG,GA,AA		12.407,7.1947,10.6412		261/783	18142564	1384,11622	2203	4300	6503	SO:0001819	synonymous_variant	57325	exon5			AGAGAAAAGGTCT	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.783A>G	20.37:g.18142564A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	102	59	0.578431	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	CCDS13133.1																																																																																			A|0.896;G|0.104	0.104	strong		0.443	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		G	18142564	A	G	18142564	2	3	22	1	0	0	0	0	0	0	0	1	3968	11	1	2		2	CSRP2BP	20	18142564	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	219521	18142564	44882956	10417	15525										
C20orf12	55184	hgsc.bcm.edu	37	chr20	18395988	18395988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caccatggctccacaccagcCgcagaaggacgcctcccaga	9	18	0	2	rs6035037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:18395988C>T	ENST00000358866.6	-	10	1082	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Missense_Mutation_p.G240S|DZANK1_ENST00000262547.5_Missense_Mutation_p.G354S|DZANK1_ENST00000329494.5_Missense_Mutation_p.G356S			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	354							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCACACCAGCCGCAGAAGGAC	0.562													C|||	1251	0.2498	0.1573	0.2983	5008	,	,		15727	0.1696		0.3151	False		,,,				2504	0.3558				p.G354S		Atlas-SNP	.											DZANK1,NS,carcinoma,0,2	DZANK1	65	2	0			c.G1060A						PASS	.	C	SER/GLY	643,3185		54,535,1325	77	87	84		1060	3.5	1	20	dbSNP_114	84	2529,5711		368,1793,1959	yes	missense	DZANK1	NM_001099407.1	56	422,2328,3284	TT,TC,CC		30.6917,16.7973,26.2844	benign	354/753	18395988	3172,8896	1914	4120	6034	SO:0001583	missense	55184	exon11			ACCAGCCGCAGAA	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1060G>A	20.37:g.18395988C>T	ENSP00000351734:p.Gly354Ser	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	92	53	0.576087	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	515	0.2358058608058608	77	0.1565040650406504	98	0.27071823204419887	104	0.18181818181818182	236	0.3113456464379947	C	14.53	2.562631	0.45694	0.167973	0.306917	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000357236	T;T;T;T	0.61627	0.26;0.09;0.76;0.21	5.57	3.54	0.40534	.	0.634496	0.17261	N	0.180784	T	0.00012	0.0000	N	0.10972	0.075	0.50467	P	1.2199999999995548E-4	B;B;B	0.32031	0.267;0.352;0.063	B;B;B	0.24848	0.056;0.048;0.004	T	0.25467	-1.0131	9	0.46703	T	0.11	-6.1428	8.6331	0.33930	0.0:0.7597:0.1522:0.0881	rs6035037;rs17204022;rs52820643;rs61438457;rs6035037	373;240;354	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	S	181;354;356;180;240	ENSP00000366857:G181S;ENSP00000262547:G354S;ENSP00000328866:G356S;ENSP00000349774:G240S	ENSP00000262547:G354S	G	-	1	0	C20orf12	18343988	0.998000	0.40836	0.980000	0.43619	0.858000	0.48976	3.120000	0.50430	0.619000	0.30197	0.313000	0.20887	GGC	C|0.764;T|0.236	0.236	strong		0.562	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		T	18395988	C	T	18395988	3	4	22	1	0	0	0	0	1	0	0	0	2085	652	23	1	1242	1	C20orf12	20	18395988	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	253424	18395988	44629532	10418	15526										
C20orf12	55184	hgsc.bcm.edu	37	chr20	18445963	18445963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggctgaggcactcgtaAtggtatgatctgagggacac	13	9	1	3	rs6035051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:18445963A>G	ENST00000358866.6	-	1	62	c.40T>C	c.(40-42)Tta>Cta	p.L14L	DZANK1_ENST00000262547.5_Silent_p.L14L|DZANK1_ENST00000357236.4_5'UTR|POLR3F_ENST00000377603.4_5'Flank|DZANK1_ENST00000329494.5_Silent_p.L14L			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	14							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGCACTCGTAATGGTATGATC	0.353													G|||	2893	0.577676	0.6157	0.572	5008	,	,		15653	0.6101		0.5567	False		,,,				2504	0.5184				p.L14L		Atlas-SNP	.											DZANK1,caecum,carcinoma,+1,1	DZANK1	65	1	0			c.T40C						PASS	.	G		2283,1531		693,897,317	97	89	92		40	2.1	1	20	dbSNP_114	92	4686,3560		1323,2040,760	no	coding-synonymous	DZANK1	NM_001099407.1		2016,2937,1077	GG,GA,AA		43.1724,40.1416,42.2139		14/753	18445963	6969,5091	1907	4123	6030	SO:0001819	synonymous_variant	55184	exon2			CTCGTAATGGTAT	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.40T>C	20.37:g.18445963A>G		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Silent	SNP	ENST00000358866.6	37	CCDS46582.1																																																																																			A|0.419;G|0.581	0.581	strong		0.353	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		G	18445963	A	G	18445963	2	3	22	1	0	0	0	0	0	0	0	1	2085	98	4	2		2	C20orf12	20	18445963	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	49975	18445963	44579557	10419	15527										
CRNKL1	51340	hgsc.bcm.edu	37	chr20	20033194	20033194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggctgcgcgtcctccttGcggcagcgcgtggagtgcgg	17	14	0	0	rs145198573	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:20033194G>T	ENST00000377340.2	-	2	307	c.276C>A	c.(274-276)cgC>cgA	p.R92R	C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_5'Flank|C20orf26_ENST00000377306.1_5'Flank|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|CRNKL1_ENST00000377327.4_Silent_p.R80R	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	92					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CGTCCTCCTTGCGGCAGCGCG	0.662													G|||	20	0.00399361	0.0151	0.0	5008	,	,		18175	0.0		0.0	False		,,,				2504	0.0				p.R92R		Atlas-SNP	.											.	CRNKL1	101	.	0			c.C276A						PASS	.	G	,	67,4339	60.5+/-97.4	0,67,2136	51	47	48		,276	-2.9	0	20	dbSNP_134	48	2,8598	1.2+/-3.3	0,2,4298	no	utr-5,coding-synonymous	C20orf26,CRNKL1	NM_015585.3,NM_016652.4	,	0,69,6434	TT,TG,GG		0.0233,1.5207,0.5305	,	,92/849	20033194	69,12937	2203	4300	6503	SO:0001819	synonymous_variant	51340	exon2			CTCCTTGCGGCAG	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.276C>A	20.37:g.20033194G>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	CCDS33446.1																																																																																			G|0.996;T|0.004	0.004	strong		0.662	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			T	20033194	G	T	20033194	2	4	22	1	0	0	0	0	0	0	0	1	3891	1306	46	4		4	CRNKL1	20	20033194	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1587231	20033194	42992326	10420	15528										
C20orf26	26074	hgsc.bcm.edu	37	chr20	20340872	20340872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaggaagatcttccttccAtagagcagttagcccatcaa	9	10	2	2	rs75487354	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:20340872A>G	ENST00000245957.5	+	27	3608	c.3532A>G	c.(3532-3534)Ata>Gta	p.I1178V	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1178										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTCCTTCCATAGAGCAGTT	0.418											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	a|||	68	0.0135783	0.0507	0.0014	5008	,	,		18359	0.0		0.0	False		,,,				2504	0.0				p.I1178V		Atlas-SNP	.											.	C20orf26	188	.	0			c.A3532G						PASS	.		VAL/ILE	217,4189	131.4+/-167.9	6,205,1992	144	155	151		3532	0.1	0.7	20	dbSNP_131	151	5,8595	3.7+/-12.6	0,5,4295	yes	missense	C20orf26	NM_015585.3	29	6,210,6287	GG,GA,AA		0.0581,4.9251,1.7069	benign	1178/1238	20340872	222,12784	2203	4300	6503	SO:0001583	missense	26074	exon27			CCTTCCATAGAGC																												ENST00000245957.5:c.3532A>G	20.37:g.20340872A>G	ENSP00000245957:p.Ile1178Val	Somatic	63	0	0	740	WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	17	0.007783882783882784	17	0.034552845528455285	0	0.0	0	0.0	0	0.0	a	7.203	0.593934	0.13875	0.049251	5.81E-4	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.09255	3.0	5.09	0.0811	0.14423	.	0.335985	0.22190	N	0.063396	T	0.00695	0.0023	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48043	-0.9069	10	0.17369	T	0.5	.	2.2354	0.04007	0.5253:0.1361:0.0764:0.2623	.	1178	Q8NHU2	CT026_HUMAN	V	1118;1144;1178	ENSP00000245957:I1178V	ENSP00000245957:I1178V	I	+	1	0	C20orf26	20288872	0.027000	0.19231	0.727000	0.30756	0.085000	0.17905	-0.093000	0.11111	0.028000	0.15324	0.441000	0.28932	ATA	A|0.984;G|0.016	0.016	strong		0.418	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			G	20340872	A	G	20340872	3	3	22	1	0	0	0	0	1	0	0	0	2106	217	8	2	3666	2	C20orf26	20	20340872	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	307678	20340872	42684648	10421	15529										
FOXA2	3170	hgsc.bcm.edu	37	chr20	22563134	22563134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggtagcagccgttctcgAacatgttgcccgagtcaggg	14	11	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:22563134A>G	ENST00000377115.4	-	3	909	c.728T>C	c.(727-729)tTc>tCc	p.F243S	FOXA2_ENST00000419308.2_Missense_Mutation_p.F249S	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	243					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCCGTTCTCGAACATGTTGCC	0.662																																					p.F249S		Atlas-SNP	.											.	FOXA2	48	.	0			c.T746C						PASS	.						19	22	21					20																	22563134		2203	4300	6503	SO:0001583	missense	3170	exon2			TTCTCGAACATGT	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.728T>C	20.37:g.22563134A>G	ENSP00000366319:p.Phe243Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	110	38	0.345455	NM_021784	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784481	0.70222	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.96073	-3.9;-3.9;-3.9	4.98	3.87	0.44632	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000006	D	0.97629	0.9223	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.97315	0.9940	10	0.87932	D	0	.	10.4372	0.44443	0.9206:0.0:0.0794:0.0	.	243;249	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	S	243;243;249;129	ENSP00000366319:F243S;ENSP00000400341:F243S;ENSP00000315955:F249S	ENSP00000315955:F249S	F	-	2	0	FOXA2	22511134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	0.723000	0.32274	0.468000	0.43344	TTC	.	.	none		0.662	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			G	22563134	A	G	22563134	3	3	22	1	0	0	0	0	1	0	0	0	5990	246	9	2	649	2	FOXA2	20	22563134	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2222262	22563134	40462386	10422	15530										
THBD	7056	hgsc.bcm.edu	37	chr20	23029971	23029971	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcgcactgtcattaggtgGccccgcagtccgtcgcagat	13	13	1	1	rs201268201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23029971G>T	ENST00000377103.2	-	1	407	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	57	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TCATTAGGTGGCCCCGCAGTC	0.677													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11359	0.0		0.0	False		,,,				2504	0.0				p.G57G		Atlas-SNP	.											.	THBD	26	.	0			c.C171A						PASS	.	G		3,4261		0,3,2129	8	9	9		171	1.3	1	20		9	0,8380		0,0,4190	no	coding-synonymous	THBD	NM_000361.2		0,3,6319	TT,TG,GG		0.0,0.0704,0.0237		57/576	23029971	3,12641	2132	4190	6322	SO:0001819	synonymous_variant	7056	exon1			TAGGTGGCCCCGC		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.171C>A	20.37:g.23029971G>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	40	30	0.75	NM_000361	Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	CCDS13148.1																																																																																			G|0.999;T|0.001	0.001	strong		0.677	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			T	23029971	G	T	23029971	2	4	22	1	0	0	0	0	0	0	0	1	15849	1190	42	4		4	THBD	20	23029971	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	466837	23029971	39995549	10423	15531										
CD93	22918	hgsc.bcm.edu	37	chr20	23066338	23066338	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagcctgggctcccacaGgggccctcagaccacttggg	16	14	1	1	rs6048539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23066338G>C	ENST00000246006.4	-	1	639	c.492C>G	c.(490-492)ccC>ccG	p.P164P		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	164	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTCCCACAGGGGCCCTCAG	0.652													G|||	474	0.0946486	0.1422	0.0836	5008	,	,		13028	0.0933		0.0944	False		,,,				2504	0.0399				p.P164P		Atlas-SNP	.											.	CD93	84	.	0			c.C492G						PASS	.	G		629,3777		37,555,1611	29	36	34		492	-11	0.1	20	dbSNP_114	34	773,7827		40,693,3567	no	coding-synonymous	CD93	NM_012072.3		77,1248,5178	CC,CG,GG		8.9884,14.276,10.7796		164/653	23066338	1402,11604	2203	4300	6503	SO:0001819	synonymous_variant	22918	exon1			CCCACAGGGGCCC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.492C>G	20.37:g.23066338G>C		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	24	0.521739	NM_012072	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																			G|0.889;C|0.111	0.111	strong		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		C	23066338	G	C	23066338	2	2	22	1	0	0	0	0	0	0	0	1	3047	987	35	4		4	CD93	20	23066338	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	36367	23066338	39959182	10424	15532										
GZF1	64412	hgsc.bcm.edu	37	chr20	23350790	23350790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtagatggctcgcccaagaaCgatgacggacacaagactga	12	10	0	5	rs10485644	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23350790C>T	ENST00000338121.5	+	6	1925	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	GZF1_ENST00000377051.2_Silent_p.N616N|GZF1_ENST00000544236.1_Silent_p.N140N|GZF1_ENST00000542987.1_Silent_p.N125N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	616					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CGCCCAAGAACGATGACGGAC	0.418													C|||	498	0.0994409	0.2269	0.0303	5008	,	,		23169	0.0794		0.0547	False		,,,				2504	0.0429				p.N616N		Atlas-SNP	.											.	GZF1	61	.	0			c.C1848T						PASS	.	C		885,3521	344.4+/-308.1	92,701,1410	88	78	81		1848	-0.4	0.9	20	dbSNP_119	81	427,8173	132.6+/-190.3	10,407,3883	no	coding-synonymous	GZF1	NM_022482.3		102,1108,5293	TT,TC,CC		4.9651,20.0862,10.0877		616/712	23350790	1312,11694	2203	4300	6503	SO:0001819	synonymous_variant	64412	exon5			CAAGAACGATGAC	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1848C>T	20.37:g.23350790C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	201	100	0.497512	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	CCDS13151.1																																																																																			C|0.893;T|0.107	0.107	strong		0.418	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		T	23350790	C	T	23350790	2	4	22	1	0	0	0	0	0	0	0	1	6914	535	19	1		1	GZF1	20	23350790	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	284452	23350790	39674730	10425	15533										
CSTL1	128817	hgsc.bcm.edu	37	chr20	23424660	23424660	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcaattcttcctgccccctGcaaagcaagaagctgagaaa	8	12	1	2	rs12625959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23424660G>C	ENST00000246020.2	+	2	329	c.309G>C	c.(307-309)ctG>ctC	p.L103L	CSTL1_ENST00000347397.1_Silent_p.L103L			Q9H114	CST1L_HUMAN	cystatin-like 1	103						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CCTGCCCCCTGCAAAGCAAGA	0.463													G|||	851	0.169928	0.4713	0.0432	5008	,	,		21258	0.0823		0.0577	False		,,,				2504	0.0583				p.L103L		Atlas-SNP	.											.	CSTL1	30	.	0			c.G309C						PASS	.	G		1785,2621	527.1+/-372.1	355,1075,773	111	96	101		309	1.8	0.5	20	dbSNP_120	101	461,8139	137.9+/-194.8	14,433,3853	no	coding-synonymous	CSTL1	NM_138283.1		369,1508,4626	CC,CG,GG		5.3605,40.5129,17.269		103/146	23424660	2246,10760	2203	4300	6503	SO:0001819	synonymous_variant	128817	exon3			CCCCCTGCAAAGC	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.309G>C	20.37:g.23424660G>C		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	112	43	0.383929	NM_138283	Q17RA8|Q64FF7	Silent	SNP	ENST00000246020.2	37	CCDS13153.1																																																																																			G|0.837;C|0.163	0.163	strong		0.463	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			C	23424660	G	C	23424660	2	2	22	1	0	0	0	0	0	0	0	1	3987	1306	46	4		4	CSTL1	20	23424660	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73870	23424660	39600860	10426	15534										
CST4	1472	hgsc.bcm.edu	37	chr20	23666606	23666606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgtagatctcgaaagagcaCaactgtttctgtgaaaggga	11	7	2	3	rs112139500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23666606C>T	ENST00000217423.3	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	117					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CGAAAGAGCACAACTGTTTCT	0.537													c|||	541	0.108027	0.1929	0.0663	5008	,	,		17992	0.0208		0.1252	False		,,,				2504	0.0951				p.L117L		Atlas-SNP	.											.	CST4	37	.	0			c.G351A						PASS	.	C		787,3619	317.2+/-295.0	71,645,1487	92	86	89		351	-0.4	0	20	dbSNP_132	89	1018,7582	217.3+/-256.0	57,904,3339	no	coding-synonymous	CST4	NM_001899.2		128,1549,4826	TT,TC,CC		11.8372,17.862,13.8782		117/142	23666606	1805,11201	2203	4300	6503	SO:0001819	synonymous_variant	1472	exon3			AGAGCACAACTGT		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.351G>A	20.37:g.23666606C>T		Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	208	93	0.447115	NM_001899	Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	CCDS13159.1																																																																																			C|0.873;T|0.127	0.127	strong		0.537	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		T	23666606	C	T	23666606	2	4	22	1	0	0	0	0	0	0	0	1	3974	477	17	2		2	CST4	20	23666606	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	241946	23666606	39358914	10427	15535										
CST4	1472	hgsc.bcm.edu	37	chr20	23669488	23669488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgctgtacccactcatcaTtgaggtctgcatcatagatg	8	12	4	2	rs73902130	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23669488T>C	ENST00000217423.3	-	1	189	c.119A>G	c.(118-120)aAt>aGt	p.N40S		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	40					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCACTCATCATTGAGGTCTGC	0.577													.|||	170	0.0339457	0.1225	0.0115	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0				p.N40S		Atlas-SNP	.											CST4,colon,carcinoma,-1,1	CST4	37	1	0			c.A119G						PASS	.	T	SER/ASN	409,3997	201.1+/-224.2	18,373,1812	145	124	131		119	1	0	20	dbSNP_130	131	3,8597	2.2+/-6.3	0,3,4297	yes	missense	CST4	NM_001899.2	46	18,376,6109	CC,CT,TT		0.0349,9.2828,3.1678	benign	40/142	23669488	412,12594	2203	4300	6503	SO:0001583	missense	1472	exon1			TCATCATTGAGGT		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.119A>G	20.37:g.23669488T>C	ENSP00000217423:p.Asn40Ser	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	274	144	0.525547	NM_001899	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	CCDS13159.1	58	0.026556776556776556	51	0.10365853658536585	7	0.019337016574585635	0	0.0	0	0.0	T	5.380	0.255435	0.10185	0.092828	3.49E-4	ENSG00000101441	ENST00000217423	T	0.15256	2.44	2.19	1.01	0.19927	Proteinase inhibitor I25, cystatin (2);	0.362807	0.27236	N	0.020294	T	0.00241	0.0007	N	0.26042	0.785	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.36286	-0.9754	10	0.20519	T	0.43	.	4.081	0.09925	0.0:0.1933:0.0:0.8067	.	40	P01036	CYTS_HUMAN	S	40	ENSP00000217423:N40S	ENSP00000217423:N40S	N	-	2	0	CST4	23617488	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.251000	0.18257	0.094000	0.17404	0.358000	0.22013	AAT	T|0.964;C|0.036	0.036	strong		0.577	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		C	23669488	T	C	23669488	3	2	22	1	0	0	0	0	1	0	0	0	3974	1493	52	2	318	2	CST4	20	23669488	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2882	23669488	39356032	10428	15536										
CST4	1472	hgsc.bcm.edu	37	chr20	23669584	23669584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtagccatcaggagtagcAgggtacacagaggccgggcc	17	10	1	1	rs73902131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23669584A>T	ENST00000217423.3	-	1	93	c.23T>A	c.(22-24)cTg>cAg	p.L8Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	8					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CAGGAGTAGCAGGGTACACAG	0.602													.|||	170	0.0339457	0.1225	0.0115	5008	,	,		15657	0.0		0.0	False		,,,				2504	0.0				p.L8Q		Atlas-SNP	.											.	CST4	37	.	0			c.T23A						PASS	.	A	GLN/LEU	411,3995	201.5+/-224.5	18,375,1810	53	52	52		23	0.4	0	20	dbSNP_130	52	3,8597	2.2+/-6.3	0,3,4297	yes	missense	CST4	NM_001899.2	113	18,378,6107	TT,TA,AA		0.0349,9.3282,3.1831	possibly-damaging	8/142	23669584	414,12592	2203	4300	6503	SO:0001583	missense	1472	exon1			AGTAGCAGGGTAC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.23T>A	20.37:g.23669584A>T	ENSP00000217423:p.Leu8Gln	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	122	48	0.393443	NM_001899	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	CCDS13159.1	58	0.026556776556776556	51	0.10365853658536585	7	0.019337016574585635	0	0.0	0	0.0	A	2.719	-0.266983	0.05754	0.093282	3.49E-4	ENSG00000101441	ENST00000217423	T	0.08458	3.09	1.45	0.431	0.16523	.	1.397050	0.04408	N	0.365592	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.34991	0.193	T	0.28522	-1.0041	10	0.54805	T	0.06	.	3.6086	0.08052	0.2712:0.0:0.7288:0.0	.	8	P01036	CYTS_HUMAN	Q	8	ENSP00000217423:L8Q	ENSP00000217423:L8Q	L	-	2	0	CST4	23617584	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.018000	0.30002	0.157000	0.19338	-0.483000	0.04790	CTG	A|0.964;T|0.036	0.036	strong		0.602	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		T	23669584	A	T	23669584	3	4	22	1	0	0	0	0	1	0	0	0	3974	188	7	5	414	5	CST4	20	23669584	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	96	23669584	39355936	10429	15537										
CST4	1472	hgsc.bcm.edu	37	chr20	23669598	23669598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtagcagggtacacagaggCcgggccatggtctcctcaga	14	11	2	2	rs73902132	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23669598C>T	ENST00000217423.3	-	1	79	c.9G>A	c.(7-9)cgG>cgA	p.R3R		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	3					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TACACAGAGGCCGGGCCATGG	0.617													.|||	170	0.0339457	0.1225	0.0115	5008	,	,		15350	0.0		0.0	False		,,,				2504	0.0				p.R3R		Atlas-SNP	.											.	CST4	37	.	0			c.G9A						PASS	.	C		418,3988	202.5+/-225.2	18,382,1803	44	44	44		9	-0.2	0	20	dbSNP_130	44	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	CST4	NM_001899.2		18,385,6100	TT,TC,CC		0.0349,9.4871,3.237		3/142	23669598	421,12585	2203	4300	6503	SO:0001819	synonymous_variant	1472	exon1			CAGAGGCCGGGCC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.9G>A	20.37:g.23669598C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	109	40	0.366972	NM_001899	Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	CCDS13159.1																																																																																			C|0.964;T|0.036	0.036	strong		0.617	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		T	23669598	C	T	23669598	2	4	22	1	0	0	0	0	0	0	0	1	3974	726	26	2		2	CST4	20	23669598	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	23669598	39355922	10430	15538										
CST1	1469	hgsc.bcm.edu	37	chr20	23731412	23731412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgttatagatgccacccGggattatcctatcctcctcc	7	15	0	1	rs2070856	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23731412G>A	ENST00000304749.2	-	1	162	c.92C>T	c.(91-93)cCg>cTg	p.P31L	CST1_ENST00000398402.1_Missense_Mutation_p.P31L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	31			P -> L (in dbSNP:rs2070856).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GATGCCACCCGGGATTATCCT	0.567													.|||	891	0.177915	0.2315	0.0937	5008	,	,		14900	0.0764		0.1113	False		,,,				2504	0.3384				p.P31L		Atlas-SNP	.											.	CST1	37	.	0			c.C92T						PASS	.	G	LEU/PRO	908,3498	352.1+/-311.5	88,732,1383	117	101	107		92	-2.9	0	20	dbSNP_96	107	1157,7443	237.9+/-269.6	75,1007,3218	yes	missense	CST1	NM_001898.2	98	163,1739,4601	AA,AG,GG		13.4535,20.6083,15.8773	benign	31/142	23731412	2065,10941	2203	4300	6503	SO:0001583	missense	1469	exon1			CCACCCGGGATTA	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.92C>T	20.37:g.23731412G>A	ENSP00000305731:p.Pro31Leu	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	187	81	0.433155	NM_001898	Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	CCDS13160.1	285	0.1304945054945055	117	0.23780487804878048	41	0.1132596685082873	44	0.07692307692307693	83	0.10949868073878628	G	2.600	-0.293234	0.05568	0.206083	0.134535	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.12672	2.66;2.66	1.45	-2.91	0.05631	Proteinase inhibitor I25, cystatin (1);	0.902916	0.09313	N	0.819400	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.01281	0.0	T	0.42716	-0.9435	9	0.06236	T	0.91	.	5.9667	0.19328	0.6797:0.0:0.3203:0.0	rs2070856;rs2234831;rs58967935;rs2070856	31	P01037	CYTN_HUMAN	L	31	ENSP00000305731:P31L;ENSP00000381439:P31L	ENSP00000305731:P31L	P	-	2	0	CST1	23679412	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.296000	0.19083	-1.070000	0.03149	-1.207000	0.01640	CCG	G|0.847;A|0.153	0.153	strong		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		A	23731412	G	A	23731412	3	1	22	1	0	0	0	0	1	0	0	0	3970	1116	39	1	345	1	CST1	20	23731412	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	61814	23731412	39294108	10431	15539										
CST1	1469	hgsc.bcm.edu	37	chr20	23731426	23731426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccgggattatcctatcCtcctccttggggctccaggc	9	17	0	0	rs13045477	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23731426C>T	ENST00000304749.2	-	1	148	c.78G>A	c.(76-78)gaG>gaA	p.E26E	CST1_ENST00000398402.1_Silent_p.E26E	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	26					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E26E(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTATCCTATCCTCCTCCTTGG	0.582													.|||	1837	0.366813	0.5779	0.3343	5008	,	,		14402	0.2123		0.2465	False		,,,				2504	0.3875				p.E26E		Atlas-SNP	.											CST1,NS,carcinoma,0,1	CST1	37	1	1	Substitution - coding silent(1)	stomach(1)	c.G78A						PASS	.	C		2206,2200	589.8+/-387.2	566,1074,563	93	82	86		78	-0.9	0	20	dbSNP_121	86	2140,6460	365.2+/-333.8	274,1592,2434	no	coding-synonymous	CST1	NM_001898.2		840,2666,2997	TT,TC,CC		24.8837,49.9319,33.4153		26/142	23731426	4346,8660	2203	4300	6503	SO:0001819	synonymous_variant	1469	exon1			CCTATCCTCCTCC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.78G>A	20.37:g.23731426C>T		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	170	169	0.994118	NM_001898	Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	CCDS13160.1																																																																																			C|0.665;T|0.335	0.335	strong		0.582	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		T	23731426	C	T	23731426	2	4	22	1	0	0	0	0	0	0	0	1	3970	680	24	2		2	CST1	20	23731426	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	23731426	39294094	10432	15540										
CST5	1473	hgsc.bcm.edu	37	chr20	23860178	23860178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatggcaaagtccagggcacActgcacactcttgtcattga	10	11	2	1	rs1799841	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23860178A>G	ENST00000304710.4	-	1	209	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	46			C -> R (in 45% of the population; dbSNP:rs1799841). {ECO:0000269|PubMed:8444475}.		negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.C46R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TCCAGGGCACACTGCACACTC	0.577													g|||	2830	0.565096	0.8139	0.5476	5008	,	,		17019	0.494		0.4453	False		,,,				2504	0.4376				p.C46R		Atlas-SNP	.											CST5,NS,carcinoma,0,1	CST5	24	1	1	Substitution - Missense(1)	stomach(1)	c.T136C						PASS	.	G	ARG/CYS	3301,1105		1250,801,152	182	166	171		136	-0.4	0	20	dbSNP_89	171	3740,4860		816,2108,1376	yes	missense	CST5	NM_001900.4	180	2066,2909,1528	GG,GA,AA		43.4884,25.0794,45.8634	benign	46/143	23860178	7041,5965	2203	4300	6503	SO:0001583	missense	1473	exon1			GGGCACACTGCAC		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.136T>C	20.37:g.23860178A>G	ENSP00000307132:p.Cys46Arg	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	109	108	0.990826	NM_001900	Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	1186	0.543040293040293	389	0.790650406504065	192	0.5303867403314917	270	0.47202797202797203	335	0.4419525065963061	N	0.003	-2.500876	0.00157	0.749206	0.434884	ENSG00000170367	ENST00000304710	T	0.24723	1.84	1.99	-0.399	0.12415	Proteinase inhibitor I25, cystatin (2);	0.860793	0.10208	N	0.702474	T	0.00012	0.0000	N	0.00054	-2.38	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37526	-0.9702	9	0.06757	T	0.87	.	0.8314	0.01131	0.162:0.2324:0.3697:0.236	rs1799841;rs52827118;rs61231587;rs1799841	46	P28325	CYTD_HUMAN	R	46	ENSP00000307132:C46R	ENSP00000307132:C46R	C	-	1	0	CST5	23808178	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.217000	0.02979	-0.410000	0.07542	-0.380000	0.06706	TGT	A|0.455;G|0.545	0.545	strong		0.577	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		G	23860178	A	G	23860178	3	3	22	1	0	0	0	0	1	0	0	0	3975	159	6	2	304	2	CST5	20	23860178	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	128752	23860178	39165342	10433	15541										
GGTLC1	92086	hgsc.bcm.edu	37	chr20	23966316	23966316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcccacctggtcaatgttTctctccactgtcgtgacgtt	8	14	2	1	rs111546926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:23966316T>C	ENST00000335694.4	-	5	723	c.519A>G	c.(517-519)agA>agG	p.R173R	GGTLC1_ENST00000278765.4_Silent_p.R173R|GGTLC1_ENST00000286890.4_Silent_p.R173R	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	173					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGTCAATGTTTCTCTCCACTG	0.597													.|||	337	0.0672923	0.2239	0.0274	5008	,	,		16839	0.002		0.0089	False		,,,				2504	0.0112				p.R173R		Atlas-SNP	.											.	GGTLC1	37	.	0			c.A519G						PASS	.	T	,	856,3550	316.3+/-294.6	75,706,1422	52	54	53		519,519	0.8	0.4	20	dbSNP_132	53	103,8489	51.9+/-112.3	1,101,4194	no	coding-synonymous,coding-synonymous	GGTLC1	NM_178311.2,NM_178312.2	,	76,807,5616	CC,CT,TT		1.1988,19.4281,7.3781	,	173/226,173/226	23966316	959,12039	2203	4296	6499	SO:0001819	synonymous_variant	92086	exon5			AATGTTTCTCTCC	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.519A>G	20.37:g.23966316T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_178311	D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	CCDS13163.1																																																																																			T|0.937;C|0.063	0.063	strong		0.597	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		C	23966316	T	C	23966316	2	2	22	1	0	0	0	0	0	0	0	1	6365	1780	62	2		2	GGTLC1	20	23966316	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	106138	23966316	39059204	10434	15542										
CST7	8530	hgsc.bcm.edu	37	chr20	24939590	24939590	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaggcctgaaatatatgctGgaggtggaaattggcagaac	13	5	0	2	rs1056033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:24939590G>C	ENST00000480798.1	+	3	546	c.270G>C	c.(268-270)ctG>ctC	p.L90L	CST7_ENST00000376835.2_Silent_p.L112L	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	90					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AATATATGCTGGAGGTGGAAA	0.537													C|||	2963	0.591653	0.3374	0.6354	5008	,	,		19073	0.9325		0.5229	False		,,,				2504	0.6237				p.L90L		Atlas-SNP	.											.	CST7	14	.	0			c.G270C						PASS	.	C		1509,2897	675.3+/-403.1	264,981,958	117	109	112		270	-10.8	0	20	dbSNP_86	112	4243,4357	582.3+/-391.4	1043,2157,1100	no	coding-synonymous	CST7	NM_003650.3		1307,3138,2058	CC,CG,GG		49.3372,34.2488,44.2257		90/146	24939590	5752,7254	2203	4300	6503	SO:0001819	synonymous_variant	8530	exon3			TATGCTGGAGGTG	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.270G>C	20.37:g.24939590G>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_003650	Q6FH95|Q7Z4J8|Q9UED4	Silent	SNP	ENST00000480798.1	37	CCDS13165.2																																																																																			G|0.504;C|0.496	0.496	strong		0.537	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		C	24939590	G	C	24939590	2	2	22	1	0	0	0	0	0	0	0	1	3977	1335	47	4		4	CST7	20	24939590	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	973274	24939590	38085930	10435	15543										
ACSS1	84532	hgsc.bcm.edu	37	chr20	25038484	25038484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccagacggtgtggtagggGgtgtcccacacgagagtgtc	16	10	0	2	rs66817095	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:25038484G>A	ENST00000323482.4	-	1	334	c.255C>T	c.(253-255)acC>acT	p.T85T	ACSS1_ENST00000376726.3_Silent_p.T85T|ACSS1_ENST00000432802.2_Silent_p.T85T	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	85					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)	TGTGGTAGGGGGTGTCCCACA	0.662																																					p.T85T		Atlas-SNP	.											.	ACSS1	46	.	0			c.C255T						PASS	.						42	47	45					20																	25038484		2203	4300	6503	SO:0001819	synonymous_variant	84532	exon1			GTAGGGGGTGTCC		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.255C>T	20.37:g.25038484G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	135	66	0.488889	NM_001252677	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	CCDS13167.1																																																																																			G|0.845;T|0.155	.	alt		0.662	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		A	25038484	G	A	25038484	2	1	22	1	0	0	0	0	0	0	0	1	188	1219	43	2		2	ACSS1	20	25038484	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98894	25038484	37987036	10436	15544										
ABHD12	26090	hgsc.bcm.edu	37	chr20	25288632	25288632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatggctcttagcttcttcGcggatattagtgaatggaga	13	6	2	2	rs6107027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:25288632G>A	ENST00000339157.5	-	9	1109	c.837C>T	c.(835-837)cgC>cgT	p.R279R	ABHD12_ENST00000376542.3_Silent_p.R279R|ABHD12_ENST00000481556.1_5'UTR	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	279					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TAGCTTCTTCGCGGATATTAG	0.368													g|||	1683	0.336062	0.211	0.5836	5008	,	,		13675	0.0228		0.5089	False		,,,				2504	0.4744				p.R279R		Atlas-SNP	.											.	ABHD12	46	.	0			c.C837T						PASS	.	A	,	1183,3223	415.2+/-337.1	157,869,1177	73	72	72		837,837	-11.1	0	20	dbSNP_114	72	4470,4130	589.2+/-392.5	1153,2164,983	no	coding-synonymous,coding-synonymous	ABHD12	NM_001042472.2,NM_015600.4	,	1310,3033,2160	AA,AG,GG		48.0233,26.8498,43.4646	,	279/399,279/405	25288632	5653,7353	2203	4300	6503	SO:0001819	synonymous_variant	26090	exon9			TTCTTCGCGGATA	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.837C>T	20.37:g.25288632G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	CCDS42857.1																																																																																			G|0.608;A|0.392	0.392	strong		0.368	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		A	25288632	G	A	25288632	2	1	22	1	0	0	0	0	0	0	0	1	76	1074	38	1		1	ABHD12	20	25288632	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	250148	25288632	37736888	10437	15545										
ABHD12	26090	hgsc.bcm.edu	37	chr20	25319977	25319977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcaggcgcaaccacaCgccctttcgcctgcaagaga	8	17	1	1	rs11904930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:25319977C>T	ENST00000339157.5	-	2	474	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ABHD12_ENST00000376542.3_Missense_Mutation_p.V68M	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	68					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CGCAACCACACGCCCTTTCGC	0.423													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		17996	0.0		0.0	False		,,,				2504	0.0				p.V68M		Atlas-SNP	.											.	ABHD12	46	.	0			c.G202A						PASS	.	C	MET/VAL,MET/VAL	88,4318	74.1+/-112.3	1,86,2116	102	92	95		202,202	2.1	1	20	dbSNP_120	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ABHD12	NM_001042472.2,NM_015600.4	21,21	1,88,6414	TT,TC,CC		0.0233,1.9973,0.692	benign,benign	68/399,68/405	25319977	90,12916	2203	4300	6503	SO:0001583	missense	26090	exon2			ACCACACGCCCTT	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.202G>A	20.37:g.25319977C>T	ENSP00000341408:p.Val68Met	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	10.04	1.241327	0.22711	0.019973	2.33E-4	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.25749	1.78;1.78;1.78	5.51	2.13	0.27403	.	0.327344	0.28409	N	0.015448	T	0.04452	0.0122	N	0.08118	0	0.19300	N	0.999971	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.06405	0.002;0.001;0.002	T	0.15464	-1.0436	10	0.44086	T	0.13	0.0354	1.0324	0.01541	0.1484:0.1871:0.2866:0.378	rs11904930	23;68;68	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	M	68;68;30;23	ENSP00000365725:V68M;ENSP00000341408:V68M;ENSP00000413311:V23M	ENSP00000341408:V68M	V	-	1	0	ABHD12	25267977	0.214000	0.23563	0.996000	0.52242	0.608000	0.37181	0.149000	0.16243	0.676000	0.31285	-0.226000	0.12346	GTG	C|0.993;T|0.007	0.007	strong		0.423	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		T	25319977	C	T	25319977	3	4	22	1	0	0	0	0	1	0	0	0	76	536	19	1	1104	1	ABHD12	20	25319977	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31345	25319977	37705543	10438	15546										
GINS1	9837	hgsc.bcm.edu	37	chr20	25398790	25398790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagatgggaatatggtagcGtcttgccaaatgcattacga	11	7	2	1	rs6076347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:25398790G>A	ENST00000262460.4	+	4	383	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.V97I	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	97			V -> I (in dbSNP:rs6076347). {ECO:0000269|PubMed:15489334}.		DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						ATATGGTAGCGTCTTGCCAAA	0.423													G|||	1157	0.23103	0.0908	0.4035	5008	,	,		20574	0.0069		0.4592	False		,,,				2504	0.2945				p.V97I		Atlas-SNP	.											GINS1,caecum,carcinoma,0,1	GINS1	25	1	0			c.G289A						PASS	.	G	ILE/VAL	691,3715	291.0+/-281.2	53,585,1565	233	197	209		289	0.3	0.9	20	dbSNP_114	209	4039,4561	557.4+/-387.0	922,2195,1183	yes	missense	GINS1	NM_021067.3	29	975,2780,2748	AA,AG,GG		46.9651,15.6832,36.3678	benign	97/197	25398790	4730,8276	2203	4300	6503	SO:0001583	missense	9837	exon4			GGTAGCGTCTTGC	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.289G>A	20.37:g.25398790G>A	ENSP00000262460:p.Val97Ile	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	175	95	0.542857	NM_021067	Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	CCDS33451.1	542	0.24816849816849818	46	0.09349593495934959	151	0.4171270718232044	3	0.005244755244755245	342	0.45118733509234826	G	1.713	-0.498511	0.04291	0.156832	0.469651	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.46451	0.87;0.87	5.52	0.267	0.15622	.	0.246537	0.39687	N	0.001294	T	0.00012	0.0000	N	0.11341	0.13	0.27456	P	0.9533019	B	0.09022	0.002	B	0.06405	0.002	T	0.48163	-0.9059	9	0.13108	T	0.6	-3.2614	11.4953	0.50404	0.2885:0.0:0.7115:0.0	rs6076347;rs17850933;rs52823022;rs56483564;rs57237708;rs6076347	97	Q14691	PSF1_HUMAN	I	97	ENSP00000262460:V97I;ENSP00000408669:V97I	ENSP00000262460:V97I	V	+	1	0	GINS1	25346790	1.000000	0.71417	0.851000	0.33527	0.437000	0.31866	3.032000	0.49736	0.043000	0.15746	-1.305000	0.01319	GTC	G|0.689;A|0.311	0.311	strong		0.423	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		A	25398790	G	A	25398790	3	1	22	1	0	0	0	0	1	0	0	0	6387	1145	40	1	303	1	GINS1	20	25398790	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	78813	25398790	37626730	10439	15547										
DEFB119	245932	hgsc.bcm.edu	37	chr20	29965208	29965211	+	Frame_Shift_Del	DEL	ACTG	ACTG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaggccctacaaattccActgttacccatgcatcgaag					rs374993061	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	ACTG	ACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:29965208_29965211delACTG	ENST00000376321.3	-	2	212_215	c.93_96delCAGT	c.(91-96)aacagtfs	p.NS31fs	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	31					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACAAATTCCACTGTTACCCATGC	0.431														26	0.00519169	0.0182	0.0029	5008	,	,		21220	0.0		0.0	False		,,,				2504	0.0				p.32_33del		Pindel,Atlas-Indel	.											DEFB119_ENST00000376321,NS,malignant_melanoma,+1,2	DEFB119	37	2	0			c.94_97del						PASS	.		,	106,4154		3,100,2027					,	3.3	0.3			168	2,8248		0,2,4123	no	utr-3,frameshift	DEFB119	NM_173460.1,NM_153289.2	,	3,102,6150	A1A1,A1R,RR		0.0242,2.4883,0.8633	,	,		108,12402				SO:0001589	frameshift_variant	245932	exon2			.	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.93_96delCAGT	20.37:g.29965208_29965211delACTG	ENSP00000365499:p.Asn31fs	Somatic	110	.	.		WXS	Illumina HiSeq	Phase_I	88	36	0.409	NM_153289	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Frame_Shift_Del	DEL	ENST00000376321.3	37	CCDS13178.1																																																																																			.	.	weak		0.431	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		-	29965211	ACTG	-	29965208	7	5	22	1	0	1	0	1	0	0	0	0	4407	156	6	0	162	0	DEFB119	20	29965208	Frame_Shift_Del	DEL	ACTG	TCGA-G8-6324-01A-11D-2210-10	4566418	29965208	33060312	10440	15548										
REM1	28954	hgsc.bcm.edu	37	chr20	30070239	30070239	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaccatgtgcccatcatCctcgtgggcaacaaggcaga	11	13	1	2	rs2233832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:30070239C>A	ENST00000201979.2	+	4	866	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	191					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCCATCATCCTCGTGGGCA	0.607													C|||	711	0.141973	0.0764	0.1383	5008	,	,		20109	0.246		0.0905	False		,,,				2504	0.1789				p.I191I		Atlas-SNP	.											.	REM1	54	.	0			c.C573A						PASS	.	C		422,3984	206.5+/-228.1	21,380,1802	89	78	82		573	5	1	20	dbSNP_98	82	718,7882	175.6+/-225.6	27,664,3609	no	coding-synonymous	REM1	NM_014012.4		48,1044,5411	AA,AC,CC		8.3488,9.5778,8.7652		191/299	30070239	1140,11866	2203	4300	6503	SO:0001819	synonymous_variant	28954	exon4			CATCATCCTCGTG	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.573C>A	20.37:g.30070239C>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_014012	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	CCDS13181.1																																																																																			C|0.886;A|0.114	0.114	strong		0.607	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		A	30070239	C	A	30070239	2	1	22	1	0	0	0	0	0	0	0	1	13222	845	30	4		4	REM1	20	30070239	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	105031	30070239	32955281	10441	15549										
POFUT1	23509	hgsc.bcm.edu	37	chr20	30822455	30822455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccccctaagctgcgggaCgagttctgattctggccgga	14	12	2	1	rs7263390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:30822455C>T	ENST00000375749.3	+	7	1220	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	POFUT1_ENST00000539210.1_Silent_p.D175D	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	386					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTGCGGGACGAGTTCTGAT	0.632													C|||	92	0.0183706	0.0651	0.0086	5008	,	,		18001	0.0		0.0	False		,,,				2504	0.0				p.D386D		Atlas-SNP	.											.	POFUT1	52	.	0			c.C1158T						PASS	.	C		233,4173	136.1+/-172.1	8,217,1978	54	54	54		1158	-3.8	1	20	dbSNP_116	54	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	POFUT1	NM_015352.1		8,224,6271	TT,TC,CC		0.0814,5.2882,1.8453		386/389	30822455	240,12766	2203	4300	6503	SO:0001819	synonymous_variant	23509	exon7			GCGGGACGAGTTC	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.1158C>T	20.37:g.30822455C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_015352	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	37	CCDS13198.1																																																																																			C|0.973;T|0.027	0.027	strong		0.632	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		T	30822455	C	T	30822455	2	4	22	1	0	0	0	0	0	0	0	1	12183	535	19	1		1	POFUT1	20	30822455	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	752216	30822455	32203065	10442	15550										
ASXL1	171023	hgsc.bcm.edu	37	chr20	31022480	31022480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaggtggcggcggggccacCgatgagggaggtggcagagg	24	7	0	2	rs79865730	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31022480C>T	ENST00000375687.4	+	13	2389	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	ASXL1_ENST00000306058.5_Silent_p.T650T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	655	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCGGGGCCACCGATGAGGGAG	0.701			"F, N, Mis"		"MDS, CMML"								C|||	39	0.00778754	0.025	0.0043	5008	,	,		12008	0.0		0.003	False		,,,				2504	0.0				p.T655T		Atlas-SNP	.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114	.	3	Complex - deletion inframe(2)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	c.C1965T						PASS	.	C		53,4213		1,51,2081	8	9	9		1965	1.2	1	20	dbSNP_131	9	2,8376		0,2,4187	no	coding-synonymous	ASXL1	NM_015338.5		1,53,6268	TT,TC,CC		0.0239,1.2424,0.435		655/1542	31022480	55,12589	2133	4189	6322	SO:0001819	synonymous_variant	171023	exon12			GGCCACCGATGAG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1965C>T	20.37:g.31022480C>T		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	54	33	0.611111	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																			C|0.993;T|0.007	0.007	strong		0.701	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31022480	C	T	31022480	2	4	22	1	0	0	0	0	0	0	0	1	1066	639	23	1		1	ASXL1	20	31022480	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	200025	31022480	32003040	10443	15551										
ASXL1	171023	hgsc.bcm.edu	37	chr20	31024488	31024488	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcctgcggacccgatgcctCttcctgctgagatccctcca	10	17	1	1	rs6057581	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31024488C>T	ENST00000375687.4	+	13	4397	c.3973C>T	c.(3973-3975)Ctt>Ttt	p.L1325F	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1320F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1325			L -> F (in dbSNP:rs6057581).		bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCGATGCCTCTTCCTGCTGA	0.572			"F, N, Mis"		"MDS, CMML"								C|||	145	0.0289537	0.1044	0.0058	5008	,	,		17355	0.0		0.003	False		,,,				2504	0.0				p.L1325F		Atlas-SNP	.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114	.	0			c.C3973T						PASS	.	C	PHE/LEU	386,4020	187.4+/-214.1	13,360,1830	41	44	43		3973	1.3	0	20	dbSNP_114	43	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ASXL1	NM_015338.5	22	13,364,6126	TT,TC,CC		0.0465,8.7608,2.9986	probably-damaging	1325/1542	31024488	390,12616	2203	4300	6503	SO:0001583	missense	171023	exon12			ATGCCTCTTCCTG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3973C>T	20.37:g.31024488C>T	ENSP00000364839:p.Leu1325Phe	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	69	31	0.449275	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	47	0.02152014652014652	42	0.08536585365853659	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	9.497	1.102092	0.20632	0.087608	4.65E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16597	2.33;2.33	4.56	1.29	0.21616	.	0.227351	0.28011	N	0.016945	T	0.00580	0.0019	L	0.36672	1.1	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.59221	0.854;0.854	T	0.09164	-1.0687	10	0.16896	T	0.51	-9.4128	1.2537	0.01987	0.1414:0.4193:0.1563:0.2829	rs6057581;rs6057581	1320;1325	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	1325;1325;1325;1246;1320	ENSP00000364839:L1325F;ENSP00000305119:L1320F	ENSP00000305119:L1320F	L	+	1	0	ASXL1	30488149	0.000000	0.05858	0.010000	0.14722	0.276000	0.26787	-0.141000	0.10327	0.336000	0.23639	0.561000	0.74099	CTT	C|0.971;T|0.029	0.029	strong		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31024488	C	T	31024488	3	4	22	1	0	0	0	0	1	0	0	0	1066	913	32	2	4029	2	ASXL1	20	31024488	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2008	31024488	32001032	10444	15552										
DNMT3B	1789	hgsc.bcm.edu	37	chr20	31388080	31388080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatatcaaatacgtgaacgaCgtgaggaacatcacaaagaa	8	7	2	3	rs17123657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31388080C>T	ENST00000328111.2	+	17	2202	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	DNMT3B_ENST00000456297.2_Silent_p.D531D|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Silent_p.D619D|DNMT3B_ENST00000344505.4_Silent_p.D607D|DNMT3B_ENST00000353855.2_Silent_p.D607D|DNMT3B_ENST00000348286.2_Silent_p.D607D|DNMT3B_ENST00000443239.3_Silent_p.D565D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	627	S-adenosyl-L-methionine binding. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGTGAACGACGTGAGGAACA	0.498													C|||	277	0.0553115	0.1944	0.0144	5008	,	,		21823	0.0		0.007	False		,,,				2504	0.0031				p.D627D		Atlas-SNP	.											DNMT3B_ENST00000201963,NS,carcinoma,+2,4	DNMT3B	196	4	0			c.C1881T						PASS	.	C	,,,,,	762,3644	312.7+/-292.7	71,620,1512	198	170	180		1695,1593,1881,1821,1821,1857	-1.8	0.9	20	dbSNP_123	180	30,8570	21.0+/-64.5	0,30,4270	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	71,650,5782	TT,TC,CC		0.3488,17.2946,6.0895	,,,,,	565/729,531/695,627/854,607/834,607/771,619/846	31388080	792,12214	2203	4300	6503	SO:0001819	synonymous_variant	1789	exon17			GAACGACGTGAGG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1881C>T	20.37:g.31388080C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	106	56	0.528302	NM_006892	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																			C|0.944;T|0.056	0.056	strong		0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		T	31388080	C	T	31388080	2	4	22	1	0	0	0	0	0	0	0	1	4677	535	19	1		1	DNMT3B	20	31388080	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	363592	31388080	31637440	10445	15553										
MAPRE1	22919	hgsc.bcm.edu	37	chr20	31427635	31427635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctggtgtgggcaacggagaCgacgaggcagctgagttgat	17	8	0	3	rs2070090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31427635C>T	ENST00000375571.5	+	5	709	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	190	EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GCAACGGAGACGACGAGGCAG	0.612													C|||	1557	0.310903	0.4372	0.2161	5008	,	,		17507	0.3651		0.1461	False		,,,				2504	0.3211				p.D190D		Atlas-SNP	.											.	MAPRE1	17	.	0			c.C570T						PASS	.	C		1686,2720	513.1+/-368.2	311,1064,828	128	133	131		570	1.6	1	20	dbSNP_96	131	1437,7163	276.1+/-292.1	120,1197,2983	no	coding-synonymous	MAPRE1	NM_012325.2		431,2261,3811	TT,TC,CC		16.7093,38.266,24.012		190/269	31427635	3123,9883	2203	4300	6503	SO:0001819	synonymous_variant	22919	exon5			CGGAGACGACGAG	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.570C>T	20.37:g.31427635C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_012325	B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	CCDS13208.1																																																																																			C|0.738;T|0.261	0.261	strong		0.612	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		T	31427635	C	T	31427635	2	4	22	1	0	0	0	0	0	0	0	1	9294	535	19	1		1	MAPRE1	20	31427635	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	39555	31427635	31597885	10446	15554										
BPIL1	80341	hgsc.bcm.edu	37	chr20	31598909	31598909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggactggagtggagaggcGcttcagcccaccaggtgagt	16	10	1	2	rs61734339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31598909G>A	ENST00000170150.3	+	3	384	c.189G>A	c.(187-189)gcG>gcA	p.A63A		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	63			A -> V (in dbSNP:rs34128772).			extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GTGGAGAGGCGCTTCAGCCCA	0.622													G|||	26	0.00519169	0.0159	0.0014	5008	,	,		18832	0.0		0.004	False		,,,				2504	0.0				p.A63A		Atlas-SNP	.											.	.	.	.	0			c.G189A						PASS	.	G		72,4334	65.3+/-102.7	1,70,2132	89	74	79		189	2.5	0	20	dbSNP_129	79	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	BPIFB2	NM_025227.1		1,75,6427	AA,AG,GG		0.0581,1.6341,0.592		63/459	31598909	77,12929	2203	4300	6503	SO:0001819	synonymous_variant	80341	exon3			AGAGGCGCTTCAG	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.189G>A	20.37:g.31598909G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	93	42	0.451613	NM_025227	Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	CCDS13210.1																																																																																			G|0.992;A|0.008	0.008	strong		0.622	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		A	31598909	G	A	31598909	2	1	22	1	0	0	0	0	0	0	0	1	1491	1074	38	1		1	BPIL1	20	31598909	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	171274	31598909	31426611	10447	15555										
C20orf185	359710	hgsc.bcm.edu	37	chr20	31644436	31644436	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggcctcttgggctcaggAgggctgcttggaggaggcgg	21	9	2	0	rs35539872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31644436A>C	ENST00000375494.3	+	2	213	c.213A>C	c.(211-213)ggA>ggC	p.G71G	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	71	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGGCTCAGGAGGGCTGCTTG	0.617													A|||	232	0.0463259	0.1679	0.0144	5008	,	,		17539	0.0		0.0	False		,,,				2504	0.0				p.G71G		Atlas-SNP	.											.	.	.	.	0			c.A213C						PASS	.	A		604,3802	265.9+/-266.9	52,500,1651	89	90	90		213	0.8	0.6	20	dbSNP_126	90	5,8595	3.0+/-9.4	0,5,4295	no	coding-synonymous	BPIFB3	NM_182658.1		52,505,5946	CC,CA,AA		0.0581,13.7086,4.6825		71/477	31644436	609,12397	2203	4300	6503	SO:0001819	synonymous_variant	359710	exon2			CTCAGGAGGGCTG	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.213A>C	20.37:g.31644436A>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	129	64	0.496124	NM_182658	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																			A|0.957;C|0.043	0.043	strong		0.617	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		C	31644436	A	C	31644436	2	2	22	1	0	0	0	0	0	0	0	1	2097	291	11	5		5	C20orf185	20	31644436	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	45527	31644436	31381084	10448	15556										
C20orf185	359710	hgsc.bcm.edu	37	chr20	31661399	31661399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaatgctgttgtgctgacCgtggcatcctgaggctgaga	14	9	0	4	rs114341725	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31661399C>T	ENST00000375494.3	+	15	1419	c.1419C>T	c.(1417-1419)acC>acT	p.T473T		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	473					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.T473T(1)									TTGTGCTGACCGTGGCATCCT	0.552													C|||	27	0.00539137	0.0204	0.0	5008	,	,		19225	0.0		0.0	False		,,,				2504	0.0				p.T473T		Atlas-SNP	.											C20orf185,caecum,carcinoma,+2,1	.	.	1	1	Substitution - coding silent(1)	lung(1)	c.C1419T						scavenged	.	C		71,4335	65.3+/-102.7	0,71,2132	237	182	201		1419	-2.5	1	20	dbSNP_132	201	0,8600		0,0,4300	yes	coding-synonymous	BPIFB3	NM_182658.1		0,71,6432	TT,TC,CC		0.0,1.6114,0.5459		473/477	31661399	71,12935	2203	4300	6503	SO:0001819	synonymous_variant	359710	exon15			GCTGACCGTGGCA	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1419C>T	20.37:g.31661399C>T		Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	218	109	0.5	NM_182658	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																			C|0.993;T|0.007	0.007	strong		0.552	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		T	31661399	C	T	31661399	2	4	22	1	0	0	0	0	0	0	0	1	2097	639	23	1		1	C20orf185	20	31661399	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16963	31661399	31364121	10449	15557										
C20orf186	149954	hgsc.bcm.edu	37	chr20	31671209	31671209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacaatgacttccatgtccGaggaccccccccagtatata	6	15	0	1	rs13036385	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31671209G>C	ENST00000375483.3	+	3	206	c.206G>C	c.(205-207)cGa>cCa	p.R69P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	69						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTCCATGTCCGAGGACCCCCC	0.498													g|||	1080	0.215655	0.1891	0.3069	5008	,	,		11957	0.1528		0.2316	False		,,,				2504	0.2352				p.R69P		Atlas-SNP	.											.	.	.	.	0			c.G206C						PASS	.		PRO/ARG	959,3447	359.4+/-314.8	119,721,1363	88	86	87		206	2.9	0.4	20	dbSNP_121	87	1995,6605	347.8+/-326.7	222,1551,2527	yes	missense	BPIFB4	NM_182519.2	103	341,2272,3890	CC,CG,GG		23.1977,21.7658,22.7126	probably-damaging	69/615	31671209	2954,10052	2203	4300	6503	SO:0001583	missense	149954	exon3			ATGTCCGAGGACC	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.206G>C	20.37:g.31671209G>C	ENSP00000364632:p.Arg69Pro	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	121	54	0.446281	NM_182519	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	464	0.21245421245421245	78	0.15853658536585366	113	0.31215469613259667	97	0.16958041958041958	176	0.23218997361477572	g	9.146	1.014987	0.19355	0.217658	0.231977	ENSG00000186191	ENST00000375483	T	0.01538	4.79	2.89	2.89	0.33648	.	0.000000	0.28414	U	0.015427	T	0.00012	0.0000	L	0.29908	0.895	0.58432	P	8.000000000008E-6	D	0.67145	0.996	D	0.70487	0.969	T	0.57952	-0.7722	9	0.49607	T	0.09	0.036	9.3529	0.38149	0.0:0.0:1.0:0.0	rs13036385;rs52795648;rs13036385	69	P59827	BPIB4_HUMAN	P	69	ENSP00000364632:R69P	ENSP00000364632:R69P	R	+	2	0	BPIFB4	31134870	0.998000	0.40836	0.432000	0.26747	0.013000	0.08279	2.545000	0.45769	1.607000	0.50170	0.306000	0.20318	CGA	G|0.777;C|0.223	0.223	strong		0.498	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		C	31671209	G	C	31671209	3	2	22	1	0	0	0	0	1	0	0	0	2098	1058	37	4	216	4	C20orf186	20	31671209	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9810	31671209	31354311	10450	15558										
C20orf186	149954	hgsc.bcm.edu	37	chr20	31671318	31671318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggggggcaaataccgataTggtgagatccttgagtccga	14	8	0	2	rs144729538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31671318T>C	ENST00000375483.3	+	3	315	c.315T>C	c.(313-315)taT>taC	p.Y105Y		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	105						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AATACCGATATGGTGAGATCC	0.527													T|||	68	0.0135783	0.0469	0.0058	5008	,	,		14628	0.0		0.002	False		,,,				2504	0.0				p.Y105Y		Atlas-SNP	.											.	.	.	.	0			c.T315C						PASS	.	T		184,4222	118.8+/-156.5	5,174,2024	82	74	77		315	-4.4	1	20	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BPIFB4	NM_182519.2		5,175,6323	CC,CT,TT		0.0116,4.1761,1.4224		105/615	31671318	185,12821	2203	4300	6503	SO:0001819	synonymous_variant	149954	exon3			CCGATATGGTGAG	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.315T>C	20.37:g.31671318T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	131	74	0.564885	NM_182519	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																			T|0.986;C|0.014	0.014	strong		0.527	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		C	31671318	T	C	31671318	2	2	22	1	0	0	0	0	0	0	0	1	2098	1471	51	2		2	C20orf186	20	31671318	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	109	31671318	31354202	10451	15559										
C20orf186	149954	hgsc.bcm.edu	37	chr20	31678534	31678534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctgattcctctggggataTtgggaagtgtccagtacacc	11	10	2	1	rs2070326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31678534T>C	ENST00000375483.3	+	8	1072	c.1072T>C	c.(1072-1074)Ttg>Ctg	p.L358L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	358						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTGGGGATATTGGGAAGTGT	0.592													T|||	1090	0.217652	0.1732	0.3127	5008	,	,		19342	0.1607		0.2366	False		,,,				2504	0.2495				p.L358L		Atlas-SNP	.											.	.	.	.	0			c.T1072C						PASS	.	T		858,3548	334.9+/-303.7	95,668,1440	119	96	104		1072	0.4	1	20	dbSNP_96	104	2000,6600	349.3+/-327.4	222,1556,2522	no	coding-synonymous	BPIFB4	NM_182519.2		317,2224,3962	CC,CT,TT		23.2558,19.4734,21.9745		358/615	31678534	2858,10148	2203	4300	6503	SO:0001819	synonymous_variant	149954	exon8			GGGATATTGGGAA	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1072T>C	20.37:g.31678534T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	133	70	0.526316	NM_182519	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																			T|0.784;C|0.216	0.216	strong		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		C	31678534	T	C	31678534	2	2	22	1	0	0	0	0	0	0	0	1	2098	1490	52	2		2	C20orf186	20	31678534	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7216	31678534	31346986	10452	15560										
C20orf186	149954	hgsc.bcm.edu	37	chr20	31680334	31680334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagctgtgtctcccaagcCgatgccagagctgcctccca	10	17	1	1	rs17122711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31680334C>T	ENST00000375483.3	+	9	1214	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	405						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTCCCAAGCCGATGCCAGAG	0.597													C|||	161	0.0321486	0.0961	0.0216	5008	,	,		21163	0.0		0.0189	False		,,,				2504	0.0				p.P405L		Atlas-SNP	.											.	.	.	.	0			c.C1214T						PASS	.	C	LEU/PRO	349,4057	181.9+/-209.8	11,327,1865	71	64	67		1214	-1.9	0	20	dbSNP_123	67	162,8438	75.4+/-138.0	2,158,4140	yes	missense	BPIFB4	NM_182519.2	98	13,485,6005	TT,TC,CC		1.8837,7.921,3.929	benign	405/615	31680334	511,12495	2203	4300	6503	SO:0001583	missense	149954	exon9			CCAAGCCGATGCC	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1214C>T	20.37:g.31680334C>T	ENSP00000364632:p.Pro405Leu	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	39	18	0.461538	NM_182519	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	73	0.033424908424908424	54	0.10975609756097561	5	0.013812154696132596	0	0.0	14	0.018469656992084433	C	7.618	0.676280	0.14841	0.07921	0.018837	ENSG00000186191	ENST00000375483	T	0.06608	3.28	5.25	-1.89	0.07689	.	1.301950	0.05005	N	0.469943	T	0.00178	0.0005	L	0.57536	1.79	0.20703	N	0.999864	B	0.16603	0.018	B	0.14023	0.01	T	0.45145	-0.9281	9	.	.	.	-0.1506	13.7686	0.63010	0.4693:0.5307:0.0:0.0	rs17122711;rs52819586;rs17122711	405	P59827	BPIB4_HUMAN	L	405	ENSP00000364632:P405L	.	P	+	2	0	BPIFB4	31143995	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.355000	0.07671	-0.070000	0.12908	-0.346000	0.07831	CCG	C|0.960;T|0.040	0.040	strong		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		T	31680334	C	T	31680334	3	4	22	1	0	0	0	0	1	0	0	0	2098	652	23	1	1248	1	C20orf186	20	31680334	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1800	31680334	31345186	10453	15561										
C20orf70	140683	hgsc.bcm.edu	37	chr20	31757078	31757078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaacctgttcttcacgagGgacttgagacagttgacaat	11	8	2	2	rs6059139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31757078G>A	ENST00000253362.2	+	2	273	c.127G>A	c.(127-129)Gga>Aga	p.G43R	BPIFA2_ENST00000354932.5_Missense_Mutation_p.G43R			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	43			G -> R (in dbSNP:rs6059139).			extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TCTTCACGAGGGACTTGAGAC	0.463													G|||	141	0.028155	0.0998	0.0058	5008	,	,		20844	0.0		0.005	False		,,,				2504	0.0				p.G43R		Atlas-SNP	.											.	.	.	.	0			c.G127A						PASS	.	G	ARG/GLY	408,3998	201.8+/-224.7	16,376,1811	145	120	128		127	2.2	0	20	dbSNP_114	128	17,8583	12.6+/-44.7	0,17,4283	yes	missense	BPIFA2	NM_080574.2	125	16,393,6094	AA,AG,GG		0.1977,9.2601,3.2677	possibly-damaging	43/250	31757078	425,12581	2203	4300	6503	SO:0001583	missense	140683	exon2			CACGAGGGACTTG	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.127G>A	20.37:g.31757078G>A	ENSP00000253362:p.Gly43Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	95	31	0.326316	NM_080574	Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	59	0.027014652014652016	52	0.10569105691056911	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	2.971	-0.212453	0.06140	0.092601	0.001977	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.13089	2.62;2.62	4.16	2.22	0.28083	.	0.708924	0.12096	N	0.499960	T	0.00241	0.0007	L	0.41824	1.3	0.80722	P	0.0	P	0.36010	0.532	B	0.36922	0.236	T	0.20075	-1.0286	9	0.51188	T	0.08	-10.3634	6.3866	0.21563	0.2201:0.0:0.7799:0.0	rs6059139;rs52815538;rs6059139	43	Q96DR5	BPIA2_HUMAN	R	43	ENSP00000253362:G43R;ENSP00000347012:G43R	ENSP00000253362:G43R	G	+	1	0	BPIFA2	31220739	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.736000	0.26130	0.707000	0.31934	0.655000	0.94253	GGA	G|0.962;A|0.038	0.038	strong		0.463	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		A	31757078	G	A	31757078	3	1	22	1	0	0	0	0	1	0	0	0	2116	1233	43	2	129	2	C20orf70	20	31757078	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76744	31757078	31268442	10454	15562										
C20orf70	140683	hgsc.bcm.edu	37	chr20	31761885	31761885	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaattgtgggtttcacacagGttgaaaatcagcaactccct	9	9	2	1	rs61734343	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31761885G>T	ENST00000253362.2	+	4	449	c.303G>T	c.(301-303)ggG>ggT	p.G101G	BPIFA2_ENST00000354932.5_Splice_Site_p.G101G			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	101						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TTTCACACAGGTTGAAAATCA	0.537													G|||	23	0.00459265	0.0174	0.0	5008	,	,		19612	0.0		0.0	False		,,,				2504	0.0				p.G101G		Atlas-SNP	.											.	.	.	.	0			c.G303T						PASS	.	G		72,4334	64.1+/-101.4	0,72,2131	164	110	128		303	0.6	0.6	20	dbSNP_129	128	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	BPIFA2	NM_080574.2		0,75,6428	TT,TG,GG		0.0349,1.6341,0.5767		101/250	31761885	75,12931	2203	4300	6503	SO:0001630	splice_region_variant	140683	exon4			ACACAGGTTGAAA	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.303-1G>T	20.37:g.31761885G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	138	58	0.42029	NM_080574	Q9BQQ0	Silent	SNP	ENST00000253362.2	37	CCDS13214.1																																																																																			A|0.003;G|0.992;T|0.005	0.005	strong		0.537	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574	Silent	T	31761885	G	T	31761885	5	4	22	1	0	0	0	0	0	0	1	0	2116	1275	44	4	313	4	C20orf70	20	31761885	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4807	31761885	31263635	10455	15563										
C20orf71	128861	hgsc.bcm.edu	37	chr20	31812206	31812206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgtggtgggatccagatAtcattccataaggagtggtt	13	6	1	1	rs112731808	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31812206A>G	ENST00000375454.3	+	3	534	c.324A>G	c.(322-324)atA>atG	p.I108M	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Intron	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	108						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGATCCAGATATCATTCCATA	0.483													G|||	99	0.0197684	0.0446	0.0072	5008	,	,		20967	0.0308		0.004	False		,,,				2504	0.0				p.I108M		Atlas-SNP	.											.	.	.	.	0			c.A324G						PASS	.	G	,MET/ILE	187,4219	809.5+/-416.0	5,177,2021	173	153	160		,324	3.4	0.6	20	dbSNP_132	160	13,8587	818.7+/-406.8	0,13,4287	yes	intron,missense	BPIFA3	NM_001042439.1,NM_178466.3	,10	5,190,6308	GG,GA,AA		0.1512,4.2442,1.5378	,benign	,108/255	31812206	200,12806	2203	4300	6503	SO:0001583	missense	128861	exon3			CCAGATATCATTC		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.324A>G	20.37:g.31812206A>G	ENSP00000364603:p.Ile108Met	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	190	94	0.494737	NM_178466	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	CCDS13216.2	55	0.025183150183150184	28	0.056910569105691054	3	0.008287292817679558	20	0.03496503496503497	4	0.005277044854881266	G	0.006	-2.099179	0.00360	0.042442	0.001512	ENSG00000131059	ENST00000375454	T	0.04970	3.52	4.35	3.41	0.39046	.	0.313773	0.27986	N	0.017055	T	0.00300	0.0009	N	0.01168	-0.975	0.43841	D	0.996421	B	0.02656	0.0	B	0.04013	0.001	T	0.55016	-0.8206	10	0.30854	T	0.27	-4.1596	7.0156	0.24887	0.2026:0.0:0.7974:0.0	.	108	Q9BQP9	BPIA3_HUMAN	M	108	ENSP00000364603:I108M	ENSP00000364603:I108M	I	+	3	3	BPIFA3	31275867	0.997000	0.39634	0.603000	0.28903	0.084000	0.17831	1.446000	0.35090	0.804000	0.34136	-0.213000	0.12676	ATA	A|0.983;G|0.017	0.017	strong		0.483	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		G	31812206	A	G	31812206	3	3	22	1	0	0	0	0	1	0	0	0	2117	439	16	2	334	2	C20orf71	20	31812206	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	50321	31812206	31213314	10456	15564										
C20orf71	128861	hgsc.bcm.edu	37	chr20	31812923	31812923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccttcgataacaacatcGtaaagatgtgtgcacatatg	9	8	0	1	rs3818222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31812923G>A	ENST00000375454.3	+	4	616	c.406G>A	c.(406-408)Gta>Ata	p.V136I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.V100I	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	136			V -> I (in dbSNP:rs3818222).			extracellular region (GO:0005576)	lipid binding (GO:0008289)										TAACAACATCGTAAAGATGTG	0.507													A|||	3327	0.664337	0.789	0.428	5008	,	,		22625	0.8115		0.5229	False		,,,				2504	0.6575				p.V136I		Atlas-SNP	.											.	.	.	.	0			c.G406A						PASS	.	A	ILE/VAL,ILE/VAL	3204,1202	419.1+/-338.5	1169,866,168	165	157	160		298,406	-5.5	0	20	dbSNP_107	160	4382,4218	571.0+/-389.5	1122,2138,1040	yes	missense,missense	BPIFA3	NM_001042439.1,NM_178466.3	29,29	2291,3004,1208	AA,AG,GG		49.0465,27.281,41.6731	benign,benign	100/219,136/255	31812923	7586,5420	2203	4300	6503	SO:0001583	missense	128861	exon4			AACATCGTAAAGA		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.406G>A	20.37:g.31812923G>A	ENSP00000364603:p.Val136Ile	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	137	137	1	NM_178466	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	CCDS13216.2	1412	0.6465201465201466	381	0.774390243902439	167	0.4613259668508287	465	0.8129370629370629	399	0.5263852242744064	A	0.188	-1.055829	0.01965	0.72719	0.509535	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.04809	3.55;3.55	3.49	-5.46	0.02608	.	1.231100	0.05853	N	0.621586	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30060	-0.9991	9	0.02654	T	1	-0.0358	4.4607	0.11665	0.2017:0.1397:0.5209:0.1376	rs3818222;rs13041676;rs61303950;rs3818222	100;136	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	I	136;100	ENSP00000364603:V136I;ENSP00000364601:V100I	ENSP00000364601:V100I	V	+	1	0	BPIFA3	31276584	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.653000	0.01986	-1.846000	0.01175	-0.521000	0.04368	GTA	G|0.380;A|0.620	0.620	strong		0.507	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		A	31812923	G	A	31812923	3	1	22	1	0	0	0	0	1	0	0	0	2117	1145	40	1	420	1	C20orf71	20	31812923	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	717	31812923	31212597	10457	15565										
C20orf71	128861	hgsc.bcm.edu	37	chr20	31812949	31812949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtgtgcacatatgagcatCgttgtggagttctggctgga	14	6	1	1	rs147632261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31812949C>T	ENST00000375454.3	+	4	642	c.432C>T	c.(430-432)atC>atT	p.I144I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.I108I	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	144						extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATATGAGCATCGTTGTGGAGT	0.522													C|||	24	0.00479233	0.0136	0.0029	5008	,	,		22489	0.0		0.004	False		,,,				2504	0.0				p.I144I		Atlas-SNP	.											.	.	.	.	0			c.C432T						PASS	.	C	,	54,4352	52.9+/-88.7	0,54,2149	205	196	199		324,432	2.5	0.1	20	dbSNP_134	199	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	BPIFA3	NM_001042439.1,NM_178466.3	,	0,64,6439	TT,TC,CC		0.1163,1.2256,0.4921	,	108/219,144/255	31812949	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	128861	exon4			GAGCATCGTTGTG		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.432C>T	20.37:g.31812949C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	162	84	0.518519	NM_178466	Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	CCDS13216.2																																																																																			C|0.995;T|0.005	0.005	strong		0.522	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		T	31812949	C	T	31812949	2	4	22	1	0	0	0	0	0	0	0	1	2117	874	31	1		1	C20orf71	20	31812949	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26	31812949	31212571	10458	15566										
C20orf114	92747	hgsc.bcm.edu	37	chr20	31877770	31877770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagctgctagtcaagatcCccctggacatggtggctgga	14	10	1	1	rs114635109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31877770C>T	ENST00000253354.1	+	4	498	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	113					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AGTCAAGATCCCCCTGGACAT	0.582													C|||	45	0.00898562	0.0318	0.0029	5008	,	,		19004	0.0		0.001	False		,,,				2504	0.0				p.P113S		Atlas-SNP	.											.	.	.	.	0			c.C337T						PASS	.	C	SER/PRO	170,4236	111.6+/-149.8	4,162,2037	124	95	105		337	5.4	1	20	dbSNP_132	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BPIFB1	NM_033197.2	74	4,163,6336	TT,TC,CC		0.0116,3.8584,1.3148	probably-damaging	113/485	31877770	171,12835	2203	4300	6503	SO:0001583	missense	92747	exon4			AAGATCCCCCTGG	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.337C>T	20.37:g.31877770C>T	ENSP00000253354:p.Pro113Ser	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	112	63	0.5625	NM_033197	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	C	19.64	3.865475	0.71949	0.038584	1.16E-4	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06142	3.34;3.7	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000008	T	0.06645	0.0170	M	0.80847	2.515	0.39655	D	0.970525	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00099	-1.2067	10	0.38643	T	0.18	-35.2487	15.0609	0.71951	0.0:1.0:0.0:0.0	.	113;113	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	S	113	ENSP00000390471:P113S;ENSP00000253354:P113S	ENSP00000253354:P113S	P	+	1	0	BPIFB1	31341431	0.958000	0.32768	0.987000	0.45799	0.713000	0.41058	3.494000	0.53273	2.722000	0.93159	0.655000	0.94253	CCC	C|0.988;T|0.012	0.012	strong		0.582	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		T	31877770	C	T	31877770	3	4	22	1	0	0	0	0	1	0	0	0	2082	623	22	2	347	2	C20orf114	20	31877770	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	64821	31877770	31147750	10459	15567										
C20orf114	92747	hgsc.bcm.edu	37	chr20	31890175	31890175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccctcagcttcctgagaGtgcccatcggctgaagtcaa	9	14	3	2	rs6120222	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:31890175G>T	ENST00000253354.1	+	10	1099	c.938G>T	c.(937-939)aGt>aTt	p.S313I	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	313			S -> I (in dbSNP:rs6120222).		innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTTCCTGAGAGTGCCCATCGG	0.577													T|||	593	0.118411	0.4319	0.0245	5008	,	,		19315	0.0		0.005	False		,,,				2504	0.0				p.S313I		Atlas-SNP	.											.	.	.	.	0			c.G938T						PASS	.	T	ILE/SER	1560,2846	668.3+/-402.0	260,1040,903	210	181	191		938	3.3	0	20	dbSNP_114	191	26,8574	818.1+/-406.9	0,26,4274	yes	missense	BPIFB1	NM_033197.2	142	260,1066,5177	TT,TG,GG		0.3023,35.4063,12.1944	benign	313/485	31890175	1586,11420	2203	4300	6503	SO:0001583	missense	92747	exon10			CTGAGAGTGCCCA	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.938G>T	20.37:g.31890175G>T	ENSP00000253354:p.Ser313Ile	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	161	74	0.459627	NM_033197	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	215	0.09844322344322344	201	0.40853658536585363	10	0.027624309392265192	0	0.0	4	0.005277044854881266	T	1.380	-0.583585	0.03827	0.354063	0.003023	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.07444	3.19	4.4	3.27	0.37495	.	1.095670	0.07173	N	0.852655	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46693	-0.9173	9	0.37606	T	0.19	0.4692	4.8873	0.13710	0.0:0.0993:0.1871:0.7136	rs6120222;rs6120222	313	Q8TDL5	BPIB1_HUMAN	I	313;144	ENSP00000253354:S313I	ENSP00000253354:S313I	S	+	2	0	BPIFB1	31353836	0.026000	0.19158	0.042000	0.18584	0.008000	0.06430	1.275000	0.33144	0.296000	0.22592	-0.525000	0.04345	AGT	G|0.875;T|0.125	0.125	strong		0.577	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		T	31890175	G	T	31890175	3	4	22	1	0	0	0	0	1	0	0	0	2082	1029	36	4	972	4	C20orf114	20	31890175	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12405	31890175	31135345	10460	15568										
NECAB3	63941	hgsc.bcm.edu	37	chr20	32248088	32248088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccatgggcctgggcctcCagggtatctgacgccccctc	12	17	1	1	rs146604647	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:32248088C>T	ENST00000246190.6	-	6	556	c.501G>A	c.(499-501)ctG>ctA	p.L167L	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Silent_p.L167L|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	167					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CCTGGGCCTCCAGGGTATCTG	0.622													C|||	10	0.00199681	0.0076	0.0	5008	,	,		18803	0.0		0.0	False		,,,				2504	0.0				p.L167L		Atlas-SNP	.											.	NECAB3	27	.	0			c.G501A						PASS	.	C	,	24,4058		0,24,2017	48	54	52		501,501	3.9	1	20	dbSNP_134	52	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	NECAB3	NM_031231.3,NM_031232.3	,	0,24,6205	TT,TC,CC		0.0,0.5879,0.1926	,	167/363,167/397	32248088	24,12434	2041	4188	6229	SO:0001819	synonymous_variant	63941	exon6			GGCCTCCAGGGTA	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.501G>A	20.37:g.32248088C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	54	23	0.425926	NM_031232	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Silent	SNP	ENST00000246190.6	37	CCDS42866.1																																																																																			C|0.996;T|0.004	0.004	strong		0.622	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			T	32248088	C	T	32248088	2	4	22	1	0	0	0	0	0	0	0	1	10306	581	21	2		2	NECAB3	20	32248088	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	357913	32248088	30777432	10461	15569										
C20orf144	128864	hgsc.bcm.edu	37	chr20	32251396	32251396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgctggccaacgctgggcAacggattgactacgcgtccg	14	14	0	1	rs7260921	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:32251396A>G	ENST00000375222.3	+	2	247	c.185A>G	c.(184-186)cAa>cGa	p.Q62R	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000606525.1_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	62			Q -> R (in dbSNP:rs7260921).							lung(1)	1						AACGCTGGGCAACGGATTGAC	0.706													G|||	772	0.154153	0.4198	0.2147	5008	,	,		13324	0.0377		0.0	False		,,,				2504	0.0307				p.Q62R		Atlas-SNP	.											.	C20orf144	4	.	0			c.A185G						PASS	.	G	,,ARG/GLN	1056,2632		125,806,913	14	16	16		,,185	1.9	0.2	20	dbSNP_116	16	14,7620		0,14,3803	yes	intron,intron,missense	NECAB3,C20orf144	NM_031231.3,NM_031232.3,NM_080825.3	,,43	125,820,4716	GG,GA,AA		0.1834,28.6334,9.4506	,,benign	,,62/154	32251396	1070,10252	1844	3817	5661	SO:0001583	missense	128864	exon2			CTGGGCAACGGAT	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"bcl-2-like protein from testis"					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.185A>G	20.37:g.32251396A>G	ENSP00000364370:p.Gln62Arg	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	66	28	0.424242	NM_080825	Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	CCDS13223.1	288	0.13186813186813187	191	0.3882113821138211	69	0.19060773480662985	28	0.04895104895104895	0	0.0	G	3.709	-0.059895	0.07317	0.286334	0.001834	ENSG00000149609	ENST00000375222	T	0.39056	1.1	4.08	1.94	0.25998	.	0.154572	0.29730	N	0.011360	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42999	-0.9418	9	0.07030	T	0.85	-13.4911	3.3533	0.07160	0.2205:0.0:0.5775:0.202	rs7260921;rs59444064;rs7260921	62	Q9BQM9	CT144_HUMAN	R	62	ENSP00000364370:Q62R	ENSP00000364370:Q62R	Q	+	2	0	C20orf144	31715057	0.000000	0.05858	0.171000	0.22900	0.071000	0.16799	-0.477000	0.06583	0.498000	0.27948	-0.355000	0.07637	CAA	A|0.881;G|0.119	0.119	strong		0.706	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		G	32251396	A	G	32251396	3	3	22	1	0	0	0	0	1	0	0	0	2090	130	5	2	191	2	C20orf144	20	32251396	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3308	32251396	30774124	10462	15570										
NCOA6	23054	hgsc.bcm.edu	37	chr20	33338099	33338099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgttgctggaccatctgGccctgggagggcacgatttg	14	11	1	0	rs61736335	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33338099G>A	ENST00000374796.2	-	10	4469	c.1899C>T	c.(1897-1899)ggC>ggT	p.G633G	NCOA6_ENST00000359003.2_Silent_p.G633G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	633	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGACCATCTGGCCCTGGGAGG	0.587													G|||	11	0.00219649	0.0083	0.0	5008	,	,		17579	0.0		0.0	False		,,,				2504	0.0				p.G633G		Atlas-SNP	.											.	NCOA6	219	.	0			c.C1899T						PASS	.	G	,	60,4346	58.1+/-94.6	0,60,2143	112	100	104		1899,1899	-0.8	1	20	dbSNP_129	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,61,6442	AA,AG,GG		0.0116,1.3618,0.469	,	633/1071,633/2064	33338099	61,12945	2203	4300	6503	SO:0001819	synonymous_variant	23054	exon9			CATCTGGCCCTGG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1899C>T	20.37:g.33338099G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	198	101	0.510101	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																			G|0.996;A|0.004	0.004	strong		0.587	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33338099	G	A	33338099	2	1	22	1	0	0	0	0	0	0	0	1	10233	1190	42	2		2	NCOA6	20	33338099	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1086703	33338099	29687421	10463	15571										
GGT7	2686	hgsc.bcm.edu	37	chr20	33447314	33447314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgggccggaggtgccaagtaCatccagcacctcagccaggt	13	14	1	0	rs61319953	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33447314C>T	ENST00000336431.5	-	7	990	c.946G>A	c.(946-948)Gta>Ata	p.V316I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	316					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GTGCCAAGTACATCCAGCACC	0.657													C|||	177	0.0353435	0.1256	0.0159	5008	,	,		13069	0.0		0.0	False		,,,				2504	0.0				p.V316I		Atlas-SNP	.											.	GGT7	41	.	0			c.G946A						PASS	.	C	ILE/VAL	418,3988	196.0+/-220.5	16,386,1801	36	31	33		946	-3.3	0	20	dbSNP_129	33	4,8594	2.2+/-6.3	0,4,4295	yes	missense	GGT7	NM_178026.2	29	16,390,6096	TT,TC,CC		0.0465,9.4871,3.2452	benign	316/663	33447314	422,12582	2203	4299	6502	SO:0001583	missense	2686	exon7			CAAGTACATCCAG	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.946G>A	20.37:g.33447314C>T	ENSP00000338964:p.Val316Ile	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_178026	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	57	0.0260989010989011	50	0.1016260162601626	7	0.019337016574585635	0	0.0	0	0.0	C	10.57	1.386090	0.25031	0.094871	4.65E-4	ENSG00000131067	ENST00000336431	T	0.06218	3.33	5.84	-3.3	0.05003	.	1.463100	0.03616	N	0.235604	T	0.00073	0.0002	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.42949	-0.9421	10	0.17369	T	0.5	-16.9643	1.2329	0.01947	0.249:0.302:0.0955:0.3535	rs61319953	316;316	A4FU32;Q9UJ14	.;GGT7_HUMAN	I	316	ENSP00000338964:V316I	ENSP00000338964:V316I	V	-	1	0	GGT7	32910975	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.023000	0.12456	-0.350000	0.08262	-0.254000	0.11334	GTA	C|0.971;T|0.029	0.029	strong		0.657	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		T	33447314	C	T	33447314	3	4	22	1	0	0	0	0	1	0	0	0	6364	478	17	2	1078	2	GGT7	20	33447314	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	109215	33447314	29578206	10464	15572										
GGT7	2686	hgsc.bcm.edu	37	chr20	33451148	33451148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtagatctgcatgaccaGcgccacggtgacaccggtag	13	11	1	3	rs11546155	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33451148G>A	ENST00000336431.5	-	2	417	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	125					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGCATGACCAGCGCCACGGTG	0.647													g|||	693	0.138379	0.1362	0.0533	5008	,	,		13649	0.1071		0.1074	False		,,,				2504	0.2658				p.L125L		Atlas-SNP	.											GGT7,NS,carcinoma,0,2	GGT7	41	2	0			c.C373T						PASS	.			635,3771	263.8+/-265.7	43,549,1611	35	32	33		373	5.3	0.8	20	dbSNP_120	33	1202,7398	236.0+/-268.3	90,1022,3188	no	coding-synonymous	GGT7	NM_178026.2		133,1571,4799	AA,AG,GG		13.9767,14.4122,14.1243		125/663	33451148	1837,11169	2203	4300	6503	SO:0001819	synonymous_variant	2686	exon2			TGACCAGCGCCAC	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.373C>T	20.37:g.33451148G>A		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	227	96	0.422908	NM_178026	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	CCDS13242.2																																																																																			G|0.875;A|0.125	0.125	strong		0.647	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		A	33451148	G	A	33451148	2	1	22	1	0	0	0	0	0	0	0	1	6364	962	34	2		2	GGT7	20	33451148	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3834	33451148	29574372	10465	15573										
ACSS2	55902	hgsc.bcm.edu	37	chr20	33513983	33513983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagaggcagctgtggtggGccaccctcatcctgtgaagg	15	11	1	2	rs45486997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33513983G>C	ENST00000360596.2	+	16	2013	c.1802G>C	c.(1801-1803)gGc>gCc	p.G601A	ACSS2_ENST00000336325.4_Missense_Mutation_p.G551A|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.G614A	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	601					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGTGGTGGGCCACCCTCAT	0.557													G|||	190	0.0379393	0.1316	0.0231	5008	,	,		19053	0.0		0.0	False		,,,				2504	0.0				p.G614A		Atlas-SNP	.											.	ACSS2	75	.	0			c.G1841C						PASS	.	G	ALA/GLY,ALA/GLY,ALA/GLY	487,3919	224.3+/-240.5	27,433,1743	138	105	116		1841,1517,1802	4.3	0.9	20	dbSNP_127	116	17,8583	11.9+/-42.8	0,17,4283	yes	missense,missense,missense	ACSS2	NM_001076552.2,NM_001242393.1,NM_018677.3	60,60,60	27,450,6026	CC,CG,GG		0.1977,11.0531,3.8751	benign,benign,benign	614/715,506/607,601/702	33513983	504,12502	2203	4300	6503	SO:0001583	missense	55902	exon17			TGGTGGGCCACCC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1802G>C	20.37:g.33513983G>C	ENSP00000353804:p.Gly601Ala	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	182	95	0.521978	NM_001076552	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	57	0.0260989010989011	50	0.1016260162601626	7	0.019337016574585635	0	0.0	0	0.0	G	15.09	2.729599	0.48833	0.110531	0.001977	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.62941	-0.01;-0.01;-0.01	5.25	4.29	0.51040	.	0.241356	0.49305	N	0.000155	T	0.02083	0.0065	L	0.53780	1.695	0.51012	D	0.9999	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.007	T	0.15983	-1.0418	10	0.87932	D	0	-12.1309	15.8996	0.79362	0.0:0.1355:0.8645:0.0	rs45486997;rs60500786	614;601	Q5QPH3;Q9NR19	.;ACSA_HUMAN	A	551;601;599;309;614	ENSP00000337190:G551A;ENSP00000353804:G601A;ENSP00000253382:G614A	ENSP00000253382:G614A	G	+	2	0	ACSS2	32977644	1.000000	0.71417	0.898000	0.35279	0.962000	0.63368	7.711000	0.84669	1.417000	0.47077	0.563000	0.77884	GGC	G|0.968;C|0.032	0.032	strong		0.557	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		C	33513983	G	C	33513983	3	2	22	1	0	0	0	0	1	0	0	0	189	1203	42	4	1907	4	ACSS2	20	33513983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62835	33513983	29511537	10466	15574										
MYH7B	57644	hgsc.bcm.edu	37	chr20	33565755	33565755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgcctgctgccttgggccGccttgaacctccagggtttc	12	14	0	1	rs11906160	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33565755G>A	ENST00000262873.7	+	3	165	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	0						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCTTGGGCCGCCTTGAACCT	0.602													G|||	782	0.15615	0.3041	0.1052	5008	,	,		13720	0.0863		0.1034	False		,,,				2504	0.1186				p.A25T		Atlas-SNP	.											.	MYH7B	145	.	0			c.G73A						PASS	.	G	THR/ALA	1039,3285		115,809,1238	119	129	126	http://www.ncbi.nlm.nih.gov/pubmed?term	73	-9.1	0	20	dbSNP_120	126	950,7582		50,850,3366	yes	missense	MYH7B	NM_020884.3	58	165,1659,4604	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	11.1346,24.0287,15.4714		25/1984	33565755	1989,10867	2162	4266	6428	SO:0001583	missense	57644	exon5			TGGGCCGCCTTGA	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.73G>A	20.37:g.33565755G>A	ENSP00000262873:p.Ala25Thr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	311	0.1423992673992674	138	0.2804878048780488	46	0.1270718232044199	40	0.06993006993006994	87	0.11477572559366754	G	10.14	1.268479	0.23136	0.240287	0.111346	ENSG00000078814	ENST00000262873	D	0.86097	-2.07	4.52	-9.05	0.00730	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.02821	-1.1106	5	0.07030	T	0.85	.	10.2475	0.43350	0.5764:0.0:0.3366:0.087	rs11906160;rs61678150;rs11906160	.	.	.	T	25	ENSP00000262873:A25T	ENSP00000262873:A25T	A	+	1	0	MYH7B	33029416	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.052000	0.00627	-2.137000	0.00809	-1.421000	0.01109	GCC	G|0.858;A|0.142	0.142	strong		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33565755	G	A	33565755	3	1	22	1	0	0	0	0	1	0	0	0	10040	1087	38	1	83	1	MYH7B	20	33565755	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	51772	33565755	29459765	10467	15575										
MYH7B	57644	hgsc.bcm.edu	37	chr20	33568455	33568455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatacggcctccgtagtggcTgcttacaagggaaagcgccg	13	11	0	0	rs61746163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33568455T>C	ENST00000262873.7	+	6	635	c.543T>C	c.(541-543)gcT>gcC	p.A181A	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	139	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGTAGTGGCTGCTTACAAGG	0.557													C|||	16	0.00319489	0.0121	0.0	5008	,	,		17350	0.0		0.0	False		,,,				2504	0.0				p.A181A		Atlas-SNP	.											.	MYH7B	145	.	0			c.T543C						PASS	.	C		58,4302	745.2+/-411.6	0,58,2122	100	111	107		543	-8.9	0.1	20	dbSNP_129	107	1,8587	799.2+/-407.4	0,1,4293	no	coding-synonymous	MYH7B	NM_020884.3		0,59,6415	CC,CT,TT		0.0116,1.3303,0.4557		181/1984	33568455	59,12889	2180	4294	6474	SO:0001819	synonymous_variant	57644	exon8			AGTGGCTGCTTAC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.543T>C	20.37:g.33568455T>C		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	171	89	0.520468	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																			T|0.994;C|0.006	0.006	strong		0.557	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		C	33568455	T	C	33568455	2	2	22	1	0	0	0	0	0	0	0	1	10040	1567	55	3		3	MYH7B	20	33568455	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2700	33568455	29457065	10468	15576										
MYH7B	57644	hgsc.bcm.edu	37	chr20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatggggaggagctcatcGccaccgacgtatgagctctg	14	10	2	2	rs115275866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607													G|||	16	0.00319489	0.0121	0.0	5008	,	,		18635	0.0		0.0	False		,,,				2504	0.0				p.A376T		Atlas-SNP	.											MYH7B,colon,carcinoma,0,1	MYH7B	145	1	0			c.G1126A						PASS	.	G	THR/ALA	57,4197		0,57,2070	77	76	76		1126	3.7	1	20	dbSNP_132	76	1,8471		0,1,4235	yes	missense	MYH7B	NM_020884.3	58	0,58,6305	AA,AG,GG		0.0118,1.3399,0.4558	possibly-damaging	376/1984	33574784	58,12668	2127	4236	6363	SO:0001583	missense	57644	exon15			CTCATCGCCACCG	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1126G>A	20.37:g.33574784G>A	ENSP00000262873:p.Ala376Thr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	93	50	0.537634	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	19.22	3.786240	0.70337	0.013399	1.18E-4	ENSG00000078814	ENST00000262873	D	0.87491	-2.26	3.66	3.66	0.41972	Myosin head, motor domain (2);	0.000000	0.35708	N	0.003040	T	0.81612	0.4859	M	0.80847	2.515	0.39394	D	0.966466	P	0.51240	0.943	P	0.47299	0.543	D	0.87287	0.2296	10	0.72032	D	0.01	.	12.3325	0.55048	0.0878:0.0:0.9122:0.0	.	334	A7E2Y1	MYH7B_HUMAN	T	376	ENSP00000262873:A376T	ENSP00000262873:A376T	A	+	1	0	MYH7B	33038445	0.861000	0.29849	1.000000	0.80357	0.538000	0.34931	2.633000	0.46519	2.356000	0.79943	0.655000	0.94253	GCC	G|0.993;A|0.007	0.007	strong		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33574784	G	A	33574784	3	1	22	1	0	0	0	0	1	0	0	0	10040	1087	38	1	1176	1	MYH7B	20	33574784	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6329	33574784	29450736	10469	15577										
MYH7B	26133	hgsc.bcm.edu	37	chr20	33588874	33588874	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaagacgctggagcagacGgtgcgcgagctccaggcccg	16	12	0	3	rs76931580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33588874G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Silent_p.T1838T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGAGCAGACGGTGCGCGAGC	0.647													G|||	66	0.0131789	0.0469	0.0058	5008	,	,		17893	0.0		0.0	False		,,,				2504	0.0				p.T1838T		Atlas-SNP	.											.	MYH7B	145	.	0			c.G5514A						PASS	.	G		149,4255	97.1+/-135.8	0,149,2053	40	50	47		5514	-9.1	0.1	20	dbSNP_131	47	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	MYH7B	NM_020884.3		0,151,6351	AA,AG,GG		0.0233,3.3833,1.1612		1838/1984	33588874	151,12853	2202	4300	6502	SO:0001628	intergenic_variant	57644	exon41			GCAGACGGTGCGC	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588874G>A		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	192	85	0.442708	NM_020884	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	CCDS13246.1																																																																																			G|0.996;A|0.004	0.004	strong		0.647	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		A	33588874	G	A	33588874	1	1	22	0	1	0	0	0	0	0	0	0	10040	1103	39	1		1	MYH7B	20	33588874	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14090	33588874	29436646	10470	15578										
EDEM2	55741	hgsc.bcm.edu	37	chr20	33706509	33706509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacggtagaggtacattgcGctttcaataagttctgcaaa	10	8	2	1	rs3192415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33706509G>A	ENST00000374492.3	-	10	1233	c.1128C>T	c.(1126-1128)agC>agT	p.S376S	SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000542871.1_Silent_p.S100S|EDEM2_ENST00000374491.3_Silent_p.S339S|EDEM2_ENST00000540582.1_Silent_p.S335S|EDEM2_ENST00000541621.1_Silent_p.S155S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	376					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTACATTGCGCTTTCAATAA	0.547													G|||	559	0.111621	0.4032	0.0346	5008	,	,		21110	0.0		0.002	False		,,,				2504	0.0				p.S376S	Esophageal Squamous(51;906 1021 24535 36410 39145)	Atlas-SNP	.											.	EDEM2	46	.	0			c.C1128T						PASS	.	G	,	1436,2970	466.6+/-354.6	226,984,993	97	93	94		1017,1128	-7.1	0.6	20	dbSNP_116	94	18,8582	11.2+/-40.8	0,18,4282	no	coding-synonymous,coding-synonymous	EDEM2	NM_001145025.1,NM_018217.2	,	226,1002,5275	AA,AG,GG		0.2093,32.5919,11.1795	,	339/542,376/579	33706509	1454,11552	2203	4300	6503	SO:0001819	synonymous_variant	55741	exon10			CATTGCGCTTTCA	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1128C>T	20.37:g.33706509G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	101	100	0.990099	NM_018217	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	CCDS13247.1																																																																																			G|0.886;A|0.114	0.114	strong		0.547	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		A	33706509	G	A	33706509	2	1	22	1	0	0	0	0	0	0	0	1	4912	1078	38	1		1	EDEM2	20	33706509	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117635	33706509	29319011	10471	15579										
FAM83C	128876	hgsc.bcm.edu	37	chr20	33874720	33874720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgccgctcatctggtgccCgtctggcaggtctggctgag	15	14	4	1	rs2425049	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33874720C>T	ENST00000374408.3	-	4	1958	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	621			R -> Q (in dbSNP:rs2425049).							central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCTGGTGCCCGTCTGGCAGG	0.627													T|||	1892	0.377796	0.7474	0.1744	5008	,	,		18761	0.2232		0.2028	False		,,,				2504	0.362				p.R621Q		Atlas-SNP	.											.	FAM83C	80	.	0			c.G1862A						PASS	.	T	GLN/ARG	2773,1633	494.6+/-363.0	877,1019,307	52	51	51		1862	2.8	0.3	20	dbSNP_100	51	1871,6729	723.6+/-406.5	218,1435,2647	yes	missense	FAM83C	NM_178468.4	43	1095,2454,2954	TT,TC,CC		21.7558,37.0631,35.7066	benign	621/748	33874720	4644,8362	2203	4300	6503	SO:0001583	missense	128876	exon4			GGTGCCCGTCTGG	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1862G>A	20.37:g.33874720C>T	ENSP00000363529:p.Arg621Gln	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	154	154	1	NM_178468	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	699	0.32005494505494503	352	0.7154471544715447	78	0.2154696132596685	109	0.19055944055944055	160	0.21108179419525067	T	0.005	-2.132108	0.00338	0.629369	0.217558	ENSG00000125998	ENST00000374408	T	0.05580	3.42	4.0	2.85	0.33270	.	0.728390	0.11643	N	0.543528	T	0.00012	0.0000	N	0.00453	-1.485	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09100	-1.0690	9	0.15952	T	0.53	-25.7861	5.2018	0.15269	0.0:0.0977:0.1806:0.7217	rs2425049;rs3795160;rs56737880;rs2425049	621	Q9BQN1	FA83C_HUMAN	Q	621	ENSP00000363529:R621Q	ENSP00000363529:R621Q	R	-	2	0	FAM83C	33338134	0.088000	0.21588	0.334000	0.25495	0.004000	0.04260	0.401000	0.20948	0.332000	0.23536	-0.361000	0.07541	CGG	C|0.647;T|0.353	0.353	strong		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33874720	C	T	33874720	3	4	22	1	0	0	0	0	1	0	0	0	5635	652	23	1	385	1	FAM83C	20	33874720	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168211	33874720	29150800	10472	15580										
UQCC	55245	hgsc.bcm.edu	37	chr20	33971876	33971876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacttcctattcagctgtaTgtctattccaggaatctgtt	6	9	3	0	rs114745625	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33971876T>C	ENST00000374385.5	-	3	367	c.190A>G	c.(190-192)Ata>Gta	p.I64V	UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.I64V|UQCC1_ENST00000397554.1_Missense_Mutation_p.I64V|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000349714.5_Missense_Mutation_p.I64V|UQCC1_ENST00000407996.2_Missense_Mutation_p.I64V|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.I64V|UQCC1_ENST00000359226.2_Missense_Mutation_p.I64V|UQCC1_ENST00000374380.2_Intron	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	64						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TTCAGCTGTATGTCTATTCCA	0.438													T|||	13	0.00259585	0.0098	0.0	5008	,	,		21480	0.0		0.0	False		,,,				2504	0.0				p.I64V		Atlas-SNP	.											.	UQCC	41	.	0			c.A190G						PASS	.	T	,VAL/ILE,VAL/ILE	57,4349	56.2+/-92.4	1,55,2147	184	149	161		,190,190	-1.4	0	20	dbSNP_132	161	0,8600		0,0,4300	yes	intron,missense,missense	UQCC	NM_001184977.1,NM_018244.4,NM_199487.2	,29,29	1,55,6447	CC,CT,TT		0.0,1.2937,0.4383	,benign,benign	,64/300,64/274	33971876	57,12949	2203	4300	6503	SO:0001583	missense	55245	exon3			GCTGTATGTCTAT	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.190A>G	20.37:g.33971876T>C	ENSP00000363506:p.Ile64Val	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	218	104	0.477064	NM_018244	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	CCDS13252.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	T	0.042	-1.280171	0.01398	0.012937	0.0	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000407996;ENST00000542501;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T;T	0.42900	1.55;1.57;1.66;1.66;0.96;1.54;1.62;1.62	5.02	-1.38	0.09027	.	0.874131	0.10138	N	0.711165	T	0.13500	0.0327	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.0;0.002;0.0;0.0	B;B;B;B;B	0.13407	0.009;0.0;0.001;0.0;0.0	T	0.18777	-1.0326	10	0.27785	T	0.31	-3.4421	0.9374	0.01347	0.1611:0.3029:0.1662:0.3698	.	64;64;64;64;64	B7Z7J8;B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1	.;.;.;.;UQCC_HUMAN	V	64;64;64;64;64;64;78;64	ENSP00000335364:I64V;ENSP00000352161:I64V;ENSP00000363505:I64V;ENSP00000363506:I64V;ENSP00000386064:I64V;ENSP00000445059:I64V;ENSP00000398531:I78V;ENSP00000380686:I64V	ENSP00000335364:I64V	I	-	1	0	UQCC	33435290	0.000000	0.05858	0.004000	0.12327	0.135000	0.20990	-0.025000	0.12413	0.080000	0.16959	0.533000	0.62120	ATA	T|0.997;C|0.003	0.003	strong		0.438	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		C	33971876	T	C	33971876	3	2	22	1	0	0	0	0	1	0	0	0	17012	1464	51	2	741	2	UQCC	20	33971876	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	97156	33971876	29053644	10473	15581										
UQCC	55245	hgsc.bcm.edu	37	chr20	33981906	33981906	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcttacctgggaagtgcGagacagagccctgtccccct	10	13	1	2	rs75909303	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:33981906G>C	ENST00000374385.5	-	2	295	c.118C>G	c.(118-120)Cgc>Ggc	p.R40G	UQCC1_ENST00000374377.5_Missense_Mutation_p.S20W|UQCC1_ENST00000374384.2_Missense_Mutation_p.R40G|UQCC1_ENST00000397554.1_Missense_Mutation_p.R40G|UQCC1_ENST00000397556.3_5'UTR|UQCC1_ENST00000349714.5_Missense_Mutation_p.R40G|UQCC1_ENST00000407996.2_Missense_Mutation_p.R40G|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.R40G|UQCC1_ENST00000359226.2_Missense_Mutation_p.R40G|UQCC1_ENST00000374380.2_Missense_Mutation_p.R40G	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	40						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TGGGAAGTGCGAGACAGAGCC	0.433													C|||	31	0.0061901	0.0227	0.0014	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.0				p.R40G		Atlas-SNP	.											UQCC,NS,carcinoma,0,1	UQCC	41	1	0			c.C118G						PASS	.	C	GLY/ARG,GLY/ARG,GLY/ARG	95,4311	817.7+/-416.3	2,91,2110	124	117	120		118,118,118	4.8	1	20	dbSNP_131	120	0,8600		0,0,4300	yes	missense,missense,missense	UQCC	NM_001184977.1,NM_018244.4,NM_199487.2	125,125,125	2,91,6410	CC,CG,GG		0.0,2.1562,0.7304	benign,benign,benign	40/232,40/300,40/274	33981906	95,12911	2203	4300	6503	SO:0001583	missense	55245	exon2			AAGTGCGAGACAG	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.118C>G	20.37:g.33981906G>C	ENSP00000363506:p.Arg40Gly	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_018244	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	CCDS13252.1	8|8	0.003663003663003663|0.003663003663003663	8|8	0.016260162601626018|0.016260162601626018	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	2.061|2.061	-0.415323|-0.415323	0.04766|0.04766	0.021562|0.021562	0.0|0.0	ENSG00000101019|ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000407996;ENST00000424405;ENST00000542501;ENST00000438533;ENST00000397554|ENST00000374377	T;T;T;T;T;T;T;T;T;T|.	0.05382|.	3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.246918|.	0.36034|.	N|.	0.002824|.	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.00182|0.00182	-1.905|-1.905	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.12863|0.12863	-1.0531|-1.0531	10|6	0.02654|0.87932	T|D	1|0	0.7758|0.7758	11.0424|11.0424	0.47838|0.47838	0.0:0.8127:0.1873:0.0|0.0:0.8127:0.1873:0.0	.|.	40;40;40;40;40|.	B1AKV5;B7Z7J8;B7ZBG3;B7ZBG4;Q9NVA1|.	.;.;.;.;UQCC_HUMAN|.	G|W	40|20	ENSP00000335364:R40G;ENSP00000352161:R40G;ENSP00000363505:R40G;ENSP00000363501:R40G;ENSP00000363506:R40G;ENSP00000386064:R40G;ENSP00000399713:R40G;ENSP00000445059:R40G;ENSP00000398531:R40G;ENSP00000380686:R40G|.	ENSP00000335364:R40G|ENSP00000363497:S20W	R|S	-|-	1|2	0|0	UQCC|UQCC	33445320|33445320	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.857000|0.857000	0.48899|0.48899	1.417000|1.417000	0.34770|0.34770	1.248000|1.248000	0.43934|0.43934	-0.127000|-0.127000	0.14921|0.14921	CGC|TCG	G|0.994;C|0.006	0.006	strong		0.433	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		C	33981906	G	C	33981906	3	2	22	1	0	0	0	0	1	0	0	0	17012	1058	37	4	817	4	UQCC	20	33981906	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10030	33981906	29043614	10474	15582										
GDF5	8200	hgsc.bcm.edu	37	chr20	34022344	34022344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgtcgaacacctcccagCcagatccgtccaggcctggc	10	16	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34022344C>T	ENST00000374372.1	-	4	1372	c.869G>A	c.(868-870)gGc>gAc	p.G290D	GDF5OS_ENST00000374375.1_Missense_Mutation_p.P130S|GDF5_ENST00000374369.3_Missense_Mutation_p.G290D			P43026	GDF5_HUMAN	growth differentiation factor 5	290					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CACCTCCCAGCCAGATCCGTC	0.682																																					p.G290D		Atlas-SNP	.											.	GDF5	66	.	0			c.G869A						PASS	.						17	19	18					20																	34022344		2197	4298	6495	SO:0001583	missense	8200	exon2			TCCCAGCCAGATC	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.869G>A	20.37:g.34022344C>T	ENSP00000363492:p.Gly290Asp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_000557	E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.403881|2.403881	0.42613|0.42613	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.69806|.	-0.43;-0.43|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Transforming growth factor-beta, N-terminal (1);|.	0.494665|.	0.18574|.	N|.	0.137222|.	T|T	0.41834|0.41834	0.1176|0.1176	L|L	0.47190|0.47190	1.495|1.495	0.29135|0.29135	N|N	0.87936|0.87936	B;P|.	0.34615|.	0.316;0.459|.	B;B|.	0.39465|.	0.3;0.245|.	T|T	0.46693|0.46693	-0.9173|-0.9173	10|6	0.17832|0.87932	T|D	0.49|0	.|.	5.4132|5.4132	0.16360|0.16360	0.0:0.7525:0.0:0.2475|0.0:0.7525:0.0:0.2475	.|.	290;290|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	D|S	290|130	ENSP00000363489:G290D;ENSP00000363492:G290D|.	ENSP00000363489:G290D|ENSP00000363495:P130S	G|P	-|+	2|1	0|0	GDF5|GDF5OS	33485758|33485758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.633000|2.633000	0.46519|0.46519	2.353000|2.353000	0.79882|0.79882	0.491000|0.491000	0.48974|0.48974	GGC|CCA	.	.	none		0.682	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34022344	C	T	34022344	3	4	22	1	0	0	0	0	1	0	0	0	6316	739	26	2	640	2	GDF5	20	34022344	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40438	34022344	29003176	10475	15583										
CEP250	11190	hgsc.bcm.edu	37	chr20	34084415	34084415	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctttttagcctgactctGtcactgatggaaaaggaaca	8	9	3	2	rs224376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34084415G>C	ENST00000397527.1	+	25	3897	c.3177G>C	c.(3175-3177)ctG>ctC	p.L1059L	CEP250_ENST00000342580.4_Silent_p.L1003L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1059	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCTGACTCTGTCACTGATGG	0.453													G|||	31	0.0061901	0.0234	0.0	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.0				p.L1059L		Atlas-SNP	.											.	CEP250	141	.	0			c.G3177C						PASS	.	G		131,4275	95.7+/-134.4	2,127,2074	72	68	69		3177	3.8	1	20	dbSNP_79	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CEP250	NM_007186.3		2,130,6371	CC,CG,GG		0.0349,2.9732,1.0303		1059/2443	34084415	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	11190	exon25			GACTCTGTCACTG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3177G>C	20.37:g.34084415G>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	64	32	0.5	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																			G|0.991;C|0.009	0.009	strong		0.453	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		C	34084415	G	C	34084415	2	2	22	1	0	0	0	0	0	0	0	1	3252	1364	48	4		4	CEP250	20	34084415	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	62071	34084415	28941105	10476	15584										
CEP250	11190	hgsc.bcm.edu	37	chr20	34089679	34089679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcttctcaaagagaaatcCaagtgggaaggaaagcagaa	10	8	2	2	rs224379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34089679C>T	ENST00000397527.1	+	29	4626	c.3906C>T	c.(3904-3906)tcC>tcT	p.S1302S	CEP250_ENST00000342580.4_Silent_p.S1246S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1302	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGAGAAATCCAAGTGGGAAG	0.493													C|||	14	0.00279553	0.0106	0.0	5008	,	,		22493	0.0		0.0	False		,,,				2504	0.0				p.S1302S		Atlas-SNP	.											.	CEP250	141	.	0			c.C3906T						PASS	.	C		58,4346	56.2+/-92.4	0,58,2144	50	50	50		3906	1.9	1	20	dbSNP_79	50	0,8600		0,0,4300	no	coding-synonymous	CEP250	NM_007186.3		0,58,6444	TT,TC,CC		0.0,1.317,0.446		1302/2443	34089679	58,12946	2202	4300	6502	SO:0001819	synonymous_variant	11190	exon29			GAAATCCAAGTGG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3906C>T	20.37:g.34089679C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	35	21	0.6	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																			C|0.996;T|0.004	0.004	strong		0.493	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34089679	C	T	34089679	2	4	22	1	0	0	0	0	0	0	0	1	3252	581	21	2		2	CEP250	20	34089679	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5264	34089679	28935841	10477	15585										
CEP250	11190	hgsc.bcm.edu	37	chr20	34091624	34091624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtcaactggatgaggcccaGagagccctagcccagaggga	14	11	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34091624G>A	ENST00000397527.1	+	30	6147	c.5427G>A	c.(5425-5427)caG>caA	p.Q1809Q	CEP250_ENST00000342580.4_Silent_p.Q1753Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1809	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAGGCCCAGAGAGCCCTAG	0.597																																					p.Q1809Q		Atlas-SNP	.											.	CEP250	141	.	0			c.G5427A						PASS	.						55	59	58					20																	34091624		2203	4300	6503	SO:0001819	synonymous_variant	11190	exon30			GGCCCAGAGAGCC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5427G>A	20.37:g.34091624G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	85	41	0.482353	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																			.	.	none		0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34091624	G	A	34091624	2	1	22	1	0	0	0	0	0	0	0	1	3252	933	33	2		2	CEP250	20	34091624	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1945	34091624	28933896	10478	15586										
SPAG4	6676	hgsc.bcm.edu	37	chr20	34204168	34204168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agctctcagcagaagccagcGcctcggagccacaactggca	11	15	1	1	rs115161777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34204168G>A	ENST00000374273.3	+	1	355	c.243G>A	c.(241-243)gcG>gcA	p.A81A		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	81					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGAAGCCAGCGCCTCGGAGCC	0.731													G|||	107	0.0213658	0.0779	0.0058	5008	,	,		8847	0.0		0.0	False		,,,				2504	0.0				p.A81A		Atlas-SNP	.											.	SPAG4	36	.	0			c.G243A						PASS	.	G		185,3729		2,181,1774	5	8	7		243	4.6	1	20	dbSNP_132	7	4,7996		0,4,3996	no	coding-synonymous	SPAG4	NM_003116.1		2,185,5770	AA,AG,GG		0.05,4.7266,1.5864		81/438	34204168	189,11725	1957	4000	5957	SO:0001819	synonymous_variant	6676	exon1			GCCAGCGCCTCGG	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.243G>A	20.37:g.34204168G>A		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	40	15	0.375	NM_003116	O43648	Silent	SNP	ENST00000374273.3	37	CCDS13259.1																																																																																			G|0.980;A|0.020	0.020	strong		0.731	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34204168	G	A	34204168	2	1	22	1	0	0	0	0	0	0	0	1	14980	1074	38	1		1	SPAG4	20	34204168	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	112544	34204168	28821352	10479	15587										
SPAG4	6676	hgsc.bcm.edu	37	chr20	34205080	34205080	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgactgggtctccagtagtCtctgaggagccgctcgacct	12	14	2	1	rs116016997	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34205080C>T	ENST00000374273.3	+	2	439	c.327C>T	c.(325-327)gtC>gtT	p.V109V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	109					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGTAGTCTCTGAGGAGC	0.637													C|||	107	0.0213658	0.0779	0.0058	5008	,	,		11937	0.0		0.0	False		,,,				2504	0.0				p.V109V		Atlas-SNP	.											.	SPAG4	36	.	0			c.C327T						PASS	.	C		232,4174		2,228,1973	24	26	25		327	2.1	0.8	20	dbSNP_132	25	3,8595		0,3,4296	no	coding-synonymous	SPAG4	NM_003116.1		2,231,6269	TT,TC,CC		0.0349,5.2655,1.8071		109/438	34205080	235,12769	2203	4299	6502	SO:0001819	synonymous_variant	6676	exon2			AGTAGTCTCTGAG	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.327C>T	20.37:g.34205080C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	83	35	0.421687	NM_003116	O43648	Silent	SNP	ENST00000374273.3	37	CCDS13259.1																																																																																			C|0.982;T|0.018	0.018	strong		0.637	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		T	34205080	C	T	34205080	2	4	22	1	0	0	0	0	0	0	0	1	14980	900	32	2		2	SPAG4	20	34205080	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	912	34205080	28820440	10480	15588										
SPAG4	6676	hgsc.bcm.edu	37	chr20	34208869	34208869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggccacccccgtttcacGtgcttgtatcgagtccgtgc	12	14	1	0	rs34962502	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34208869G>A	ENST00000374273.3	+	12	1351	c.1239G>A	c.(1237-1239)acG>acA	p.T413T		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	413	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCGTTTCACGTGCTTGTATC	0.557													G|||	51	0.0101837	0.0378	0.0014	5008	,	,		15888	0.0		0.0	False		,,,				2504	0.0				p.T413T		Atlas-SNP	.											SPAG4,colon,carcinoma,+1,1	SPAG4	36	1	0			c.G1239A						PASS	.	G		183,4223	118.4+/-156.1	4,175,2024	82	83	83		1239	-11.1	0.2	20	dbSNP_126	83	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	SPAG4	NM_003116.1		4,177,6322	AA,AG,GG		0.0233,4.1534,1.4224		413/438	34208869	185,12821	2203	4300	6503	SO:0001819	synonymous_variant	6676	exon12			TTTCACGTGCTTG	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1239G>A	20.37:g.34208869G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	116	66	0.568965	NM_003116	O43648	Silent	SNP	ENST00000374273.3	37	CCDS13259.1																																																																																			G|0.986;A|0.014	0.014	strong		0.557	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34208869	G	A	34208869	2	1	22	1	0	0	0	0	0	0	0	1	14980	1132	40	1		1	SPAG4	20	34208869	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3789	34208869	28816651	10481	15589										
CPNE1	8904	hgsc.bcm.edu	37	chr20	34214173	34214173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaagggaacctaggcctggGgggcctgtgcaggatccttg	16	11	0	0	rs11543239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34214173G>A	ENST00000317619.3	-	18	1998	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	CPNE1_ENST00000397446.1_Missense_Mutation_p.P535L|CPNE1_ENST00000352393.4_Missense_Mutation_p.P535L|CPNE1_ENST00000397445.1_Missense_Mutation_p.P535L|CPNE1_ENST00000397442.1_Missense_Mutation_p.P479L|CPNE1_ENST00000317677.5_Missense_Mutation_p.P540L|CPNE1_ENST00000397443.1_Missense_Mutation_p.P535L			Q99829	CPNE1_HUMAN	copine I	535			P -> L (in dbSNP:rs11543239).		lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTAGGCCTGGGGGGCCTGTGC	0.617													G|||	449	0.0896565	0.1036	0.0274	5008	,	,		16724	0.0516		0.0507	False		,,,				2504	0.1943				p.P540L		Atlas-SNP	.											.	CPNE1	44	.	0			c.C1619T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	468,3938	222.3+/-239.2	24,420,1759	98	115	109		1601,1619,1604,1604,1604,1604	5.6	0	20	dbSNP_120	109	443,8157	133.8+/-191.2	18,407,3875	yes	missense,missense,missense,missense,missense,missense	CPNE1	NM_001198863.1,NM_003915.5,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	98,98,98,98,98,98	42,827,5634	AA,AG,GG		5.1512,10.6219,7.0045	benign,benign,benign,benign,benign,benign	534/537,540/543,535/538,535/538,535/538,535/538	34214173	911,12095	2203	4300	6503	SO:0001583	missense	8904	exon16			GCCTGGGGGGCCT	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1604C>T	20.37:g.34214173G>A	ENSP00000326126:p.Pro535Leu	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	77	40	0.519481	NM_003915	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	141	0.06456043956043957	62	0.12601626016260162	14	0.03867403314917127	22	0.038461538461538464	43	0.05672823218997362	G	11.03	1.518339	0.27211	0.106219	0.051512	ENSG00000214078	ENST00000352393;ENST00000415920;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442	T;T;T;T;T;T;T;T	0.40756	3.49;1.02;3.48;3.49;3.49;3.49;3.49;3.4	5.55	5.55	0.83447	.	7.547470	0.02290	U	0.070255	T	0.00440	0.0014	N	0.24115	0.695	0.80722	P	0.0	B;B;B;B	0.13594	0.008;0.008;0.005;0.008	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.03344	-1.1046	9	0.87932	D	0	0.043	14.8729	0.70471	0.0:0.0:1.0:0.0	rs11543239;rs52809653;rs11543239	540;479;535;515	B0QZ18;A6PVH9;Q99829;Q59EI4	.;.;CPNE1_HUMAN;.	L	535;175;540;535;535;535;535;479	ENSP00000336945:P535L;ENSP00000396069:P175L;ENSP00000317257:P540L;ENSP00000326126:P535L;ENSP00000380588:P535L;ENSP00000380587:P535L;ENSP00000380585:P535L;ENSP00000380584:P479L	ENSP00000326126:P535L	P	-	2	0	CPNE1	33677587	0.978000	0.34361	0.016000	0.15963	0.151000	0.21798	2.727000	0.47311	2.885000	0.99019	0.655000	0.94253	CCC	G|0.925;A|0.075	0.075	strong		0.617	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		A	34214173	G	A	34214173	3	1	22	1	0	0	0	0	1	0	0	0	3811	1232	43	2	13	2	CPNE1	20	34214173	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5304	34214173	28811347	10482	15590										
RBM12	10137	hgsc.bcm.edu	37	chr20	34241530	34241530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacaagaacatgtacagcaTtttcatccactgggattcct	6	11	1	1	rs17092928	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34241530T>C	ENST00000374114.3	-	3	1978	c.1715A>G	c.(1714-1716)aAt>aGt	p.N572S	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.N572S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'UTR|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.N572S|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	572			N -> S (in dbSNP:rs17092928).			nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATGTACAGCATTTTCATCCAC	0.408													T|||	124	0.0247604	0.09	0.0072	5008	,	,		22183	0.0		0.0	False		,,,				2504	0.0				p.N572S		Atlas-SNP	.											.	RBM12	93	.	0			c.A1715G						PASS	.	T	SER/ASN,SER/ASN,,,SER/ASN,SER/ASN,,,,	267,4139	150.7+/-184.7	3,261,1939	194	187	189		1715,1715,,,1715,1715,,,,	3.7	1	20	dbSNP_123	189	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,intron,utr-5,missense,missense,intron,intron,intron,intron	CPNE1,RBM12	NM_001198838.1,NM_001198840.1,NM_001198863.1,NM_003915.5,NM_006047.5,NM_152838.3,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	46,46,,,46,46,,,,	3,265,6235	CC,CT,TT		0.0465,6.0599,2.0837	benign,benign,,,benign,benign,,,,	572/933,572/933,,,572/933,572/933,,,,	34241530	271,12735	2203	4300	6503	SO:0001583	missense	10137	exon2			ACAGCATTTTCAT	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1715A>G	20.37:g.34241530T>C	ENSP00000363228:p.Asn572Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	148	78	0.527027	NM_001198840	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	48	0.02197802197802198	43	0.08739837398373984	5	0.013812154696132596	0	0.0	0	0.0	T	8.105	0.777613	0.16120	0.060599	4.65E-4	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.15487	2.42;2.42;2.42	4.83	3.69	0.42338	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.200400	0.42682	N	0.000670	T	0.00496	0.0016	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17289	-1.0374	10	0.37606	T	0.19	-5.5476	10.7607	0.46264	0.0:0.0756:0.0:0.9244	rs17092928;rs52836153;rs17092928	572	Q9NTZ6	RBM12_HUMAN	S	572;572;572;371	ENSP00000363228:N572S;ENSP00000352668:N572S;ENSP00000363217:N572S	ENSP00000339879:N371S	N	-	2	0	RBM12	33704944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.686000	0.61700	0.827000	0.34685	0.460000	0.39030	AAT	T|0.978;C|0.022	0.022	strong		0.408	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		C	34241530	T	C	34241530	3	2	22	1	0	0	0	0	1	0	0	0	13113	1493	52	2	1087	2	RBM12	20	34241530	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	27357	34241530	28783990	10483	15591										
EPB41L1	2036	hgsc.bcm.edu	37	chr20	34782156	34782156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagttctcccgcccagcctcGgtcagcgagaaccatgatgc	11	15	2	2	rs111865221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34782156G>A	ENST00000338074.2	+	12	1484	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	EPB41L1_ENST00000373941.1_Silent_p.S441S|EPB41L1_ENST00000441639.1_Silent_p.S379S|EPB41L1_ENST00000202028.5_Silent_p.S379S|EPB41L1_ENST00000373946.3_Silent_p.S410S|EPB41L1_ENST00000373950.2_Silent_p.S344S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	441					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCCAGCCTCGGTCAGCGAGA	0.627													G|||	32	0.00638978	0.0234	0.0014	5008	,	,		20291	0.0		0.0	False		,,,				2504	0.0				p.S441S		Atlas-SNP	.											.	EPB41L1	111	.	0			c.G1323A						PASS	.	G	,	93,4313	77.8+/-116.1	2,89,2112	60	52	55		1323,1137	-10.4	0	20	dbSNP_132	55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EPB41L1	NM_012156.2,NM_177996.1	,	2,89,6412	AA,AG,GG		0.0,2.1108,0.7151	,	441/882,379/780	34782156	93,12913	2203	4300	6503	SO:0001819	synonymous_variant	2036	exon13			AGCCTCGGTCAGC	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1323G>A	20.37:g.34782156G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	170	77	0.452941	NM_001258329	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	G	1.735	-0.493136	0.04322	0.021108	0.0	ENSG00000088367	ENST00000451082	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72204	-0.4361	4	.	.	.	.	1.9428	0.03350	0.0936:0.1922:0.346:0.3681	.	.	.	.	Q	19	.	.	R	+	2	0	EPB41L1	34245570	0.000000	0.05858	0.002000	0.10522	0.521000	0.34408	-9.217000	0.00013	-7.995000	0.00000	-3.875000	0.00017	CGG	G|0.991;A|0.009	0.009	strong		0.627	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		A	34782156	G	A	34782156	2	1	22	1	0	0	0	0	0	0	0	1	5152	1103	39	1		1	EPB41L1	20	34782156	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	540626	34782156	28243364	10484	15592										
EPB41L1	2036	hgsc.bcm.edu	37	chr20	34782171	34782171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcggtcagcgagaaccaTgatgcagggcctgacggtga	15	11	1	4	rs2295568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34782171T>C	ENST00000338074.2	+	12	1499	c.1338T>C	c.(1336-1338)caT>caC	p.H446H	EPB41L1_ENST00000373941.1_Silent_p.H446H|EPB41L1_ENST00000441639.1_Silent_p.H384H|EPB41L1_ENST00000202028.5_Silent_p.H384H|EPB41L1_ENST00000373946.3_Silent_p.H415H|EPB41L1_ENST00000373950.2_Silent_p.H349H	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	446					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCGAGAACCATGATGCAGGGC	0.602													C|||	648	0.129393	0.3086	0.0692	5008	,	,		20818	0.1349		0.0139	False		,,,				2504	0.0429				p.H446H		Atlas-SNP	.											.	EPB41L1	111	.	0			c.T1338C						PASS	.	C	,	1155,3251	712.4+/-408.1	157,841,1205	66	55	59		1338,1152	-7.2	0	20	dbSNP_100	59	85,8515	815.4+/-407.0	1,83,4216	no	coding-synonymous,coding-synonymous	EPB41L1	NM_012156.2,NM_177996.1	,	158,924,5421	CC,CT,TT		0.9884,26.2143,9.5341	,	446/882,384/780	34782171	1240,11766	2203	4300	6503	SO:0001819	synonymous_variant	2036	exon13			GAACCATGATGCA	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1338T>C	20.37:g.34782171T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	184	87	0.472826	NM_001258329	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1	262	0.11996336996336997	155	0.3150406504065041	29	0.08011049723756906	68	0.11888111888111888	10	0.013192612137203167	C	1.666	-0.510210	0.04231	0.262143	0.009884	ENSG00000088367	ENST00000451082	.	.	.	5.35	-7.15	0.01521	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999801478	.	.	.	.	.	.	T	0.15636	-1.0430	3	.	.	.	.	20.2067	0.98280	0.0:0.6792:0.0:0.3208	rs2295568;rs56428251;rs61316391;rs2295568	.	.	.	T	24	.	.	M	+	2	0	EPB41L1	34245585	0.001000	0.12720	0.042000	0.18584	0.230000	0.25150	-2.445000	0.01011	-1.906000	0.01089	-2.133000	0.00342	ATG	T|0.886;C|0.114	0.114	strong		0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		C	34782171	T	C	34782171	2	2	22	1	0	0	0	0	0	0	0	1	5152	1461	51	2		2	EPB41L1	20	34782171	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15	34782171	28243349	10485	15593										
C20orf4	25980	hgsc.bcm.edu	37	chr20	34828459	34828459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagggtgccacgccagcTgagataaccaagcacagcat	11	13	0	2	rs716431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:34828459T>C	ENST00000373932.3	+	2	1015	c.669T>C	c.(667-669)gcT>gcC	p.A223A	AAR2_ENST00000397286.3_Silent_p.A223A|AAR2_ENST00000320849.4_Silent_p.A223A	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	223																	CCACGCCAGCTGAGATAACCA	0.607													C|||	718	0.143371	0.5098	0.0461	5008	,	,		18079	0.0		0.0109	False		,,,				2504	0.001				p.A223A		Atlas-SNP	.											C20orf4,colon,carcinoma,0,1	.	.	1	0			c.T669C						PASS	.	C		1798,2608		378,1042,783	40	41	41		669	-2.7	0.9	20	dbSNP_86	41	71,8529		1,69,4230	no	coding-synonymous	C20orf4	NM_015511.3		379,1111,5013	CC,CT,TT		0.8256,40.808,14.3703		223/385	34828459	1869,11137	2203	4300	6503	SO:0001819	synonymous_variant	25980	exon2			GCCAGCTGAGATA		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.669T>C	20.37:g.34828459T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	133	72	0.541353	NM_001271874	E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	CCDS13273.1																																																																																			T|0.854;C|0.146	0.146	strong		0.607	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		C	34828459	T	C	34828459	2	2	22	1	0	0	0	0	0	0	0	1	2111	1567	55	3		3	C20orf4	20	34828459	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	46288	34828459	28197061	10486	15594										
MYL9	10398	hgsc.bcm.edu	37	chr20	35176541	35176541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggagaagctgaacggcacGgaccccgaggatgtgattcg	17	9	0	3	rs11553089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:35176541G>A	ENST00000279022.2	+	3	395	c.291G>A	c.(289-291)acG>acA	p.T97T	MYL9_ENST00000346786.2_Intron|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	97					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGAACGGCACGGACCCCGAGG	0.607													G|||	112	0.0223642	0.0787	0.0101	5008	,	,		17578	0.0		0.0	False		,,,				2504	0.001				p.T97T		Atlas-SNP	.											.	MYL9	13	.	0			c.G291A						PASS	.	G	,	262,4144	151.0+/-185.0	10,242,1951	114	78	91		291,	-9.7	0.1	20	dbSNP_120	91	1,8599		0,1,4299	no	coding-synonymous,intron	MYL9	NM_006097.3,NM_181526.1	,	10,243,6250	AA,AG,GG		0.0116,5.9464,2.0221	,	97/173,	35176541	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	10398	exon3			CGGCACGGACCCC	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.291G>A	20.37:g.35176541G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	101	60	0.594059	NM_006097	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	CCDS13276.1																																																																																			G|0.975;A|0.025	0.025	strong		0.607	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		A	35176541	G	A	35176541	2	1	22	1	0	0	0	0	0	0	0	1	10054	1103	39	1		1	MYL9	20	35176541	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	348082	35176541	27848979	10487	15595										
SLA2	84174	hgsc.bcm.edu	37	chr20	35242745	35242745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttgagtggtgtcctctgcaCagtcacaggtaggggtatat	14	7	2	1	rs34834764	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:35242745C>T	ENST00000262866.4	-	7	1050	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	SLA2_ENST00000360672.2_Missense_Mutation_p.C193Y	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	210	SLA C-terminal.		V -> M (in dbSNP:rs34834764).		antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTCCTCTGCACAGTCACAGGT	0.572													C|||	149	0.0297524	0.1067	0.0115	5008	,	,		21213	0.0		0.0	False		,,,				2504	0.0				p.V210M	Ovarian(59;720 1165 26994 46188 51693)	Atlas-SNP	.											.	SLA2	12	.	0			c.G628A						PASS	.	C	MET/VAL,TYR/CYS	374,4032	191.2+/-216.9	17,340,1846	152	144	147		628,578	5.4	1	20	dbSNP_126	147	1,8599		0,1,4299	yes	missense,missense	SLA2	NM_032214.2,NM_175077.1	21,194	17,341,6145	TT,TC,CC		0.0116,8.4884,2.8833	probably-damaging,probably-damaging	210/262,193/211	35242745	375,12631	2203	4300	6503	SO:0001583	missense	84174	exon7			TCTGCACAGTCAC	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.628G>A	20.37:g.35242745C>T	ENSP00000262866:p.Val210Met	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	205	105	0.512195	NM_032214	A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	ENST00000262866.4	37	CCDS13282.1	45|45	0.020604395604395604|0.020604395604395604	42|42	0.08536585365853659|0.08536585365853659	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	C|C	15.68|15.68	2.904261|2.904261	0.52333|0.52333	0.084884|0.084884	1.16E-4|1.16E-4	ENSG00000101082|ENSG00000101082	ENST00000360672|ENST00000262866	T|T	0.74632|0.79033	-0.86|-1.23	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.131339	.|0.49916	.|D	.|0.000132	T|T	0.09862|0.09862	0.0242|0.0242	.|.	.|.	.|.	0.26547|0.26547	N|N	0.973972|0.973972	B|B	0.14012|0.29988	0.009|0.264	B|B	0.04013|0.33846	0.001|0.171	T|T	0.36187|0.36187	-0.9758|-0.9758	8|9	0.45353|0.39692	T|T	0.12|0.17	-19.6165|-19.6165	16.7763|16.7763	0.85551|0.85551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs34834764|rs34834764	193|210	Q9H6Q3-2|Q9H6Q3	.|SLAP2_HUMAN	Y|M	193|210	ENSP00000353890:C193Y|ENSP00000262866:V210M	ENSP00000353890:C193Y|ENSP00000262866:V210M	C|V	-|-	2|1	0|0	SLA2|SLA2	34676159|34676159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	2.488000|2.488000	0.45276|0.45276	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	TGT|GTG	C|0.968;T|0.032	0.032	strong		0.572	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		T	35242745	C	T	35242745	3	4	22	1	0	0	0	0	1	0	0	0	14364	478	17	2	165	2	SLA2	20	35242745	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66204	35242745	27782775	10488	15596										
C20orf118	140711	hgsc.bcm.edu	37	chr20	35507542	35507542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcagagcctgtaccggcgGatggagggctgcagcgggcc	18	12	0	1	rs3748459	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:35507542G>A	ENST00000217320.3	+	3	332	c.288G>A	c.(286-288)cgG>cgA	p.R96R	TLDC2_ENST00000602922.1_Silent_p.R96R	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	96	TLD.																TGTACCGGCGGATGGAGGGCT	0.667													G|||	1164	0.232428	0.4092	0.2046	5008	,	,		16822	0.0069		0.2982	False		,,,				2504	0.1779				p.R96R		Atlas-SNP	.											.	C20orf118	21	.	0			c.G288A						PASS	.	G		1697,2709	511.2+/-367.7	310,1077,816	55	47	50		288	0.8	1	20	dbSNP_107	50	2360,6240	390.2+/-343.2	311,1738,2251	no	coding-synonymous	C20orf118	NM_080628.1		621,2815,3067	AA,AG,GG		27.4419,38.5157,31.1933		96/216	35507542	4057,8949	2203	4300	6503	SO:0001819	synonymous_variant	140711	exon3			CCGGCGGATGGAG	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.288G>A	20.37:g.35507542G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_080628	B3KVU8	Silent	SNP	ENST00000217320.3	37	CCDS33465.1																																																																																			G|0.723;A|0.277	0.277	strong		0.667	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		A	35507542	G	A	35507542	2	1	22	1	0	0	0	0	0	0	0	1	2084	1161	41	2		2	C20orf118	20	35507542	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	264797	35507542	27517978	10489	15597										
CTNNBL1	56259	hgsc.bcm.edu	37	chr20	36396429	36396429	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagggtcttctacagtggCtgttgaagaggctgaaggtg	16	6	2	3	rs186475150	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36396429C>G	ENST00000361383.6	+	7	850	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.L218V|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.L58V	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	245					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTACAGTGGCTGTTGAAGAG	0.517													C|||	15	0.00299521	0.0113	0.0	5008	,	,		18099	0.0		0.0	False		,,,				2504	0.0				p.L245V	Ovarian(184;582 2038 3273 4106 42608)	Atlas-SNP	.											.	CTNNBL1	78	.	0			c.C733G						PASS	.						108	108	108					20																	36396429		2203	4300	6503	SO:0001583	missense	56259	exon7			CAGTGGCTGTTGA	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.733C>G	20.37:g.36396429C>G	ENSP00000355050:p.Leu245Val	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	199	107	0.537688	NM_030877	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	18.66	3.670848	0.67814	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473	T;T;T	0.69806	-0.28;-0.28;-0.43	5.8	2.36	0.29203	Armadillo-like helical (1);Armadillo-type fold (1);	0.071705	0.64402	N	0.000019	T	0.58991	0.2161	M	0.76727	2.345	0.80722	D	1	D;D	0.57571	0.98;0.964	P;P	0.53401	0.725;0.629	T	0.70389	-0.4885	10	0.52906	T	0.07	-14.1169	11.9885	0.53161	0.0:0.7773:0.0:0.2227	.	245;58	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	V	245;218;58	ENSP00000355050:L245V;ENSP00000384355:L218V;ENSP00000362572:L58V	ENSP00000355050:L245V	L	+	1	2	CTNNBL1	35829843	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	0.916000	0.28651	0.797000	0.33971	0.655000	0.94253	CTG	C|0.995;G|0.005	0.005	strong		0.517	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		G	36396429	C	G	36396429	3	3	22	1	0	0	0	0	1	0	0	0	4018	796	28	4	759	4	CTNNBL1	20	36396429	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	888887	36396429	26629091	10490	15598										
RPRD1B	58490	hgsc.bcm.edu	37	chr20	36668874	36668874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttacttttctgtatttagcGaatgatgtcatccaaaacag	6	8	2	1	rs2273353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36668874G>A	ENST00000373433.4	+	2	591	c.189G>A	c.(187-189)gcG>gcA	p.A63A		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	63	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGTATTTAGCGAATGATGTCA	0.323													G|||	1456	0.290735	0.4962	0.134	5008	,	,		18769	0.2163		0.164	False		,,,				2504	0.3313				p.A63A		Atlas-SNP	.											RPRD1B,NS,carcinoma,+1,2	RPRD1B	25	2	0			c.G189A						scavenged	.	G		1909,2495	546.1+/-377.0	425,1059,718	153	149	150		189	-10.3	0.4	20	dbSNP_100	150	1413,7187	269.8+/-288.6	113,1187,3000	no	coding-synonymous	RPRD1B	NM_021215.3		538,2246,3718	AA,AG,GG		16.4302,43.347,25.546		63/327	36668874	3322,9682	2202	4300	6502	SO:0001819	synonymous_variant	58490	exon2			TTTAGCGAATGAT	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.189G>A	20.37:g.36668874G>A		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	117	62	0.529915	NM_021215	Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	CCDS13301.1																																																																																			G|0.747;A|0.253	0.253	strong		0.323	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		A	36668874	G	A	36668874	2	1	22	1	0	0	0	0	0	0	0	1	13616	1045	37	1		1	RPRD1B	20	36668874	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	272445	36668874	26356646	10491	15599										
TGM2	7052	hgsc.bcm.edu	37	chr20	36770588	36770588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgacgcgggtagggatgccCaggcacctcagcactgttgg	15	12	1	0	rs2076390	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36770588C>T	ENST00000361475.2	-	7	1046	c.873G>A	c.(871-873)ctG>ctA	p.L291L	TGM2_ENST00000536701.1_Silent_p.L210L|TGM2_ENST00000536724.1_Silent_p.L231L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	291					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGGGATGCCCAGGCACCTCA	0.597													C|||	1012	0.202077	0.2141	0.1196	5008	,	,		18709	0.2718		0.1392	False		,,,				2504	0.2372				p.L291L		Atlas-SNP	.											.	TGM2	88	.	0			c.G873A						PASS	.	C	,	833,3573	329.6+/-301.1	85,663,1455	175	141	152		873,873	-10.3	0.5	20	dbSNP_96	152	1208,7392	244.7+/-273.8	77,1054,3169	no	coding-synonymous,coding-synonymous	TGM2	NM_004613.2,NM_198951.1	,	162,1717,4624	TT,TC,CC		14.0465,18.906,15.6928	,	291/688,291/549	36770588	2041,10965	2203	4300	6503	SO:0001819	synonymous_variant	7052	exon7			GATGCCCAGGCAC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.873G>A	20.37:g.36770588C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	198	110	0.555556	NM_198951	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																			C|0.831;T|0.169	0.169	strong		0.597	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		T	36770588	C	T	36770588	2	4	22	1	0	0	0	0	0	0	0	1	15827	581	21	2		2	TGM2	20	36770588	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	101714	36770588	26254932	10492	15600										
KIAA1755	85449	hgsc.bcm.edu	37	chr20	36841536	36841536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctgcccccagtgaggcGagggacctggctctgcctgg	16	13	1	1	rs142596886	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36841536G>A	ENST00000279024.4	-	14	3782	c.3511C>T	c.(3511-3513)Cgc>Tgc	p.R1171C		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1171										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCAGTGAGGCGAGGGACCTGG	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17653	0.0		0.0	False		,,,				2504	0.0				p.R1171C		Atlas-SNP	.											.	KIAA1755	145	.	0			c.C3511T						PASS	.	G	CYS/ARG	23,4383	30.8+/-60.4	0,23,2180	38	40	40		3511	2.9	0.1	20	dbSNP_134	40	0,8600		0,0,4300	yes	missense	KIAA1755	NM_001029864.1	180	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	possibly-damaging	1171/1201	36841536	23,12983	2203	4300	6503	SO:0001583	missense	85449	exon14			TGAGGCGAGGGAC	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3511C>T	20.37:g.36841536G>A	ENSP00000279024:p.Arg1171Cys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.17	1.275548	0.23307	0.00522	0.0	ENSG00000149633	ENST00000279024	T	0.05855	3.38	4.88	2.94	0.34122	.	1.496300	0.03995	N	0.295521	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	10	0.72032	D	0.01	.	6.9683	0.24635	0.2031:0.0:0.7969:0.0	.	1171	Q5JYT7	K1755_HUMAN	C	1171	ENSP00000279024:R1171C	ENSP00000279024:R1171C	R	-	1	0	KIAA1755	36274950	0.139000	0.22563	0.060000	0.19600	0.030000	0.12068	1.048000	0.30379	0.660000	0.30964	0.561000	0.74099	CGC	G|0.999;A|0.001	0.001	strong		0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36841536	G	A	36841536	3	1	22	1	0	0	0	0	1	0	0	0	8257	1058	37	1	95	1	KIAA1755	20	36841536	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	70948	36841536	26183984	10493	15601										
KIAA1755	85449	hgsc.bcm.edu	37	chr20	36856579	36856579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagggcgctgaccagaccGggctgtgggggctgtctcct	17	12	1	2	rs74723843	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36856579G>A	ENST00000279024.4	-	6	2206	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	645										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGACCAGACCGGGCTGTGGGG	0.602													g|||	114	0.0227636	0.0794	0.0101	5008	,	,		17204	0.0		0.0	False		,,,				2504	0.002				p.P645P		Atlas-SNP	.											.	KIAA1755	145	.	0			c.C1935T						PASS	.	G		301,4103	160.0+/-192.4	14,273,1915	36	37	37		1935	-9.6	0	20	dbSNP_131	37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1755	NM_001029864.1		14,274,6214	AA,AG,GG		0.0116,6.8347,2.3224		645/1201	36856579	302,12702	2202	4300	6502	SO:0001819	synonymous_variant	85449	exon6			CAGACCGGGCTGT	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1935C>T	20.37:g.36856579G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_001029864	Q9C0A8	Silent	SNP	ENST00000279024.4	37	CCDS33467.1																																																																																			G|0.974;A|0.026	0.026	strong		0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36856579	G	A	36856579	2	1	22	1	0	0	0	0	0	0	0	1	8257	1103	39	1		1	KIAA1755	20	36856579	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15043	36856579	26168941	10494	15602										
BPI	671	hgsc.bcm.edu	37	chr20	36954790	36954790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggatgtccaggcctttgccGtcctccccaactcctccctg	8	18	0	0	rs5743524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36954790G>A	ENST00000262865.4	+	10	1218	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	377			V -> I (in dbSNP:rs5743524).		defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGCCTTTGCCGTCCTCCCCAA	0.597													g|||	209	0.0417332	0.1475	0.0187	5008	,	,		19366	0.0		0.001	False		,,,				2504	0.0				p.V377I		Atlas-SNP	.											.	BPI	67	.	0			c.G1129A						PASS	.	A	ILE/VAL	508,3898	235.5+/-248.0	28,452,1723	90	70	77		1129	-3.8	0	20	dbSNP_114	77	8,8592	6.4+/-24.3	0,8,4292	yes	missense	BPI	NM_001725.2	29	28,460,6015	AA,AG,GG		0.093,11.5297,3.9674	benign	377/488	36954790	516,12490	2203	4300	6503	SO:0001583	missense	671	exon10			TTTGCCGTCCTCC	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1129G>A	20.37:g.36954790G>A	ENSP00000262865:p.Val377Ile	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	123	52	0.422764	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	85	0.03891941391941392	80	0.16260162601626016	5	0.013812154696132596	0	0.0	0	0.0	g	3.739	-0.053900	0.07362	0.115297	9.3E-4	ENSG00000101425	ENST00000262865	T	0.09163	3.01	4.39	-3.78	0.04333	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.053620	0.07393	N	0.889378	T	0.00039	0.0001	N	0.11927	0.2	0.53688	P	2.8000000000028002E-5	B	0.20988	0.05	B	0.11329	0.006	T	0.48175	-0.9058	9	0.06757	T	0.87	-18.082	13.0633	0.59020	0.743:0.0:0.257:0.0	rs5743524;rs5743524	377	P17213	BPI_HUMAN	I	377	ENSP00000262865:V377I	ENSP00000262865:V377I	V	+	1	0	BPI	36388204	0.008000	0.16893	0.003000	0.11579	0.011000	0.07611	-0.063000	0.11655	-0.933000	0.03737	-2.146000	0.00336	GTC	G|0.949;A|0.051	0.051	strong		0.597	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		A	36954790	G	A	36954790	3	1	22	1	0	0	0	0	1	0	0	0	1490	1145	40	1	1167	1	BPI	20	36954790	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	98211	36954790	26070730	10495	15603										
LBP	3929	hgsc.bcm.edu	37	chr20	36982785	36982785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcccacagttactgcctCcagctgcagcagtgacatcg	11	14	0	1	rs2232586	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36982785C>G	ENST00000217407.2	+	4	631	c.470C>G	c.(469-471)tCc>tGc	p.S157C		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	157			S -> C (in dbSNP:rs2232586).	VTAS -> GYCL (in Ref. 1; AAA59493). {ECO:0000305}.	acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTACTGCCTCCAGCTGCAGC	0.592													C|||	28	0.00559105	0.0204	0.0014	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.0				p.S157C		Atlas-SNP	.											.	LBP	60	.	0			c.C470G						PASS	.	C	CYS/SER	45,4361	46.7+/-81.2	1,43,2159	66	56	59		470	3.8	0.2	20	dbSNP_98	59	0,8600		0,0,4300	yes	missense	LBP	NM_004139.2	112	1,43,6459	GG,GC,CC		0.0,1.0213,0.346	probably-damaging	157/482	36982785	45,12961	2203	4300	6503	SO:0001583	missense	3929	exon4			CTGCCTCCAGCTG		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.470C>G	20.37:g.36982785C>G	ENSP00000217407:p.Ser157Cys	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	56	32	0.571429	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	C	11.79	1.743153	0.30865	0.010213	0.0	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07688	3.17	4.77	3.75	0.43078	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.281808	0.30437	N	0.009628	T	0.10766	0.0263	M	0.85041	2.73	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00759	-1.1578	10	0.62326	D	0.03	-21.3368	9.7646	0.40552	0.2055:0.7945:0.0:0.0	rs2232586	157	P18428	LBP_HUMAN	C	157	ENSP00000217407:S157C	ENSP00000217407:S157C	S	+	2	0	LBP	36416199	0.012000	0.17670	0.193000	0.23327	0.108000	0.19459	2.151000	0.42263	2.648000	0.89879	0.561000	0.74099	TCC	C|0.994;G|0.006	0.006	strong		0.592	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		G	36982785	C	G	36982785	3	3	22	1	0	0	0	0	1	0	0	0	8651	855	30	4	484	4	LBP	20	36982785	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	27995	36982785	26042735	10496	15604										
LBP	3929	hgsc.bcm.edu	37	chr20	36997655	36997655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagttagccaggctctaccCcaacatgaacctggaactcc	7	16	1	1	rs2232613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:36997655C>T	ENST00000217407.2	+	10	1159	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	333			P -> L (abolishes lipopolysaccharide binding and causes increased proteolytic degradation of the protein; dbSNP:rs2232613). {ECO:0000269|PubMed:24120359}.		acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGCTCTACCCCAACATGAAC	0.507													C|||	276	0.0551118	0.0983	0.0418	5008	,	,		19010	0.001		0.0726	False		,,,				2504	0.044				p.P333L		Atlas-SNP	.											.	LBP	60	.	0			c.C998T						PASS	.	C	LEU/PRO	423,3983	205.8+/-227.6	28,367,1808	95	93	94		998	4.6	1	20	dbSNP_98	94	689,7911	171.7+/-222.6	34,621,3645	yes	missense	LBP	NM_004139.2	98	62,988,5453	TT,TC,CC		8.0116,9.6005,8.5499	probably-damaging	333/482	36997655	1112,11894	2203	4300	6503	SO:0001583	missense	3929	exon10			TCTACCCCAACAT		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.998C>T	20.37:g.36997655C>T	ENSP00000217407:p.Pro333Leu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	125	0.05723443223443223	53	0.10772357723577236	17	0.04696132596685083	1	0.0017482517482517483	54	0.0712401055408971	C	20.2	3.950249	0.73787	0.096005	0.080116	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.27890	1.64	5.54	4.58	0.56647	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000001	T	0.02047	0.0064	M	0.87097	2.86	0.09310	P	0.99999750602	D	0.89917	1.0	D	0.97110	1.0	T	0.37619	-0.9698	9	0.40728	T	0.16	-36.9081	14.0635	0.64815	0.0:0.8481:0.1518:0.0	rs2232613;rs60019947;rs2232613	333	P18428	LBP_HUMAN	L	333	ENSP00000217407:P333L	ENSP00000217407:P333L	P	+	2	0	LBP	36431069	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.338000	0.59316	1.537000	0.49254	0.655000	0.94253	CCC	C|0.926;T|0.074	0.074	strong		0.507	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		T	36997655	C	T	36997655	3	4	22	1	0	0	0	0	1	0	0	0	8651	623	22	2	1036	2	LBP	20	36997655	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14870	36997655	26027865	10497	15605										
LBP	3929	hgsc.bcm.edu	37	chr20	37001761	37001761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actattacatccttaacaccTtctaccccaagttcaatggt	3	13	2	0	rs2232618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:37001761T>C	ENST00000217407.2	+	13	1467	c.1306T>C	c.(1306-1308)Ttc>Ctc	p.F436L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	436			F -> L (in dbSNP:rs2232618). {ECO:0000269|PubMed:2402637, ECO:0000269|PubMed:9240454, ECO:0000269|Ref.5}.		acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCTTAACACCTTCTACCCCAA	0.463													C|||	629	0.125599	0.2201	0.0591	5008	,	,		19471	0.0565		0.0726	False		,,,				2504	0.1708				p.F436L		Atlas-SNP	.											.	LBP	60	.	0			c.T1306C						PASS	.	C	LEU/PHE	843,3563	746.2+/-411.7	82,679,1442	112	102	106		1306	-1	0	20	dbSNP_98	106	774,7826	784.1+/-407.6	25,724,3551	yes	missense	LBP	NM_004139.2	22	107,1403,4993	CC,CT,TT		9.0,19.133,12.4327	benign	436/482	37001761	1617,11389	2203	4300	6503	SO:0001583	missense	3929	exon13			AACACCTTCTACC		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1306T>C	20.37:g.37001761T>C	ENSP00000217407:p.Phe436Leu	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	82	34	0.414634	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	188	0.08608058608058608	81	0.16463414634146342	26	0.0718232044198895	33	0.057692307692307696	48	0.0633245382585752	C	0.006	-2.060426	0.00386	0.19133	0.09	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.05925	3.37	4.82	-0.996	0.10218	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.415593	0.22646	N	0.057383	T	0.00012	0.0000	N	0.00459	-1.475	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41360	-0.9513	9	0.18276	T	0.48	-12.5231	1.2193	0.01921	0.2711:0.3029:0.2646:0.1614	rs2232618;rs3197421;rs17422694;rs52812841;rs58745877;rs2232618	436	P18428	LBP_HUMAN	L	436	ENSP00000217407:F436L	ENSP00000217407:F436L	F	+	1	0	LBP	36435175	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	-0.516000	0.06282	-0.466000	0.06943	-1.473000	0.01005	TTC	T|0.884;C|0.116	0.116	strong		0.463	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		C	37001761	T	C	37001761	3	2	22	1	0	0	0	0	1	0	0	0	8651	1609	56	3	1356	3	LBP	20	37001761	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4106	37001761	26023759	10498	15606										
PPP1R16B	26051	hgsc.bcm.edu	37	chr20	37534665	37534665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctgagctcctcctggaCcatggagtgcgtgtggatgt	15	10	0	1	rs4812332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:37534665C>T	ENST00000299824.1	+	7	939	c.750C>T	c.(748-750)gaC>gaT	p.D250D	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	250					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TCCTCCTGGACCATGGAGTGC	0.612													C|||	1729	0.345248	0.2995	0.3746	5008	,	,		17452	0.4167		0.336	False		,,,				2504	0.3221				p.D250D		Atlas-SNP	.											.	PPP1R16B	103	.	0			c.C750T						PASS	.	C	,	1402,3004	460.0+/-352.4	212,978,1013	106	95	98		,750	2.5	1	20	dbSNP_111	98	2770,5830	440.9+/-359.6	409,1952,1939	no	intron,coding-synonymous	PPP1R16B	NM_001172735.1,NM_015568.2	,	621,2930,2952	TT,TC,CC		32.2093,31.8202,32.0775	,	,250/568	37534665	4172,8834	2203	4300	6503	SO:0001819	synonymous_variant	26051	exon7			CCTGGACCATGGA	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.750C>T	20.37:g.37534665C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_015568	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1																																																																																			C|0.671;T|0.329	0.329	strong		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		T	37534665	C	T	37534665	2	4	22	1	0	0	0	0	0	0	0	1	12366	506	18	2		2	PPP1R16B	20	37534665	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	532904	37534665	25490855	10499	15607										
FAM83D	81610	hgsc.bcm.edu	37	chr20	37555116	37555116	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccgagggcctggacgagGtgcccgccgcctgcctgtcg	16	15	0	0	rs3752290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:37555116G>C	ENST00000217429.4	+	1	162	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	11					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCTGGACGAGGTGCCCGCCGC	0.701													C|||	2010	0.401358	0.5076	0.3847	5008	,	,		10968	0.4157		0.3429	False		,,,				2504	0.3149				p.V41L		Atlas-SNP	.											FAM83D,NS,carcinoma,0,2	FAM83D	60	2	0			c.G121C						scavenged	.	C	LEU/VAL	1601,2097		394,813,642	8	11	10		121	3.4	0.9	20	dbSNP_107	10	2399,5669		370,1659,2005	no	missense	FAM83D	NM_030919.2	32	764,2472,2647	CC,CG,GG		29.7348,43.2937,33.9963	benign	41/616	37555116	4000,7766	1849	4034	5883	SO:0001583	missense	81610	exon1			GACGAGGTGCCCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.121G>C	20.37:g.37555116G>C	ENSP00000217429:p.Val41Leu	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	12	2	0.166667	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	870	0.3983516483516483	269	0.5467479674796748	136	0.3756906077348066	202	0.3531468531468531	263	0.3469656992084433	C	0.704	-0.789777	0.02884	0.432937	0.297348	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	5.48	3.44	0.39384	.	0.490125	0.16258	N	0.222396	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38757	-0.9646	9	0.06891	T	0.86	.	7.0157	0.24887	0.0:0.4204:0.417:0.1626	rs3752290;rs17846649;rs17859744;rs3752290	11;11	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	L	41;11	ENSP00000217429:V41L	ENSP00000217429:V41L	V	+	1	0	FAM83D	36988530	0.003000	0.15002	0.905000	0.35620	0.017000	0.09413	0.278000	0.18753	0.696000	0.31696	-0.120000	0.15030	GTG	G|0.618;C|0.382	0.382	strong		0.701	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			C	37555116	G	C	37555116	3	2	22	1	0	0	0	0	1	0	0	0	5636	1261	44	4	123	4	FAM83D	20	37555116	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	20451	37555116	25470404	10500	15608										
LPIN3	64900	hgsc.bcm.edu	37	chr20	39977300	39977300	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcacctcacccatcccttgGgggggtctgtctggcttccc	11	16	3	0	rs150562240	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:39977300G>C	ENST00000373257.3	+	4	421	c.330G>C	c.(328-330)tgG>tgC	p.W110C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCATCCCTTGGGGGGGTCTGT	0.662																																					p.W110C		Atlas-SNP	.											.	LPIN3	69	.	0			c.G330C						PASS	.	G	CYS/TRP	0,4406		0,0,2203	33	37	36		330	2.2	1	20	dbSNP_134	36	3,8597	1.2+/-3.3	0,3,4297	yes	missense	LPIN3	NM_022896.1	215	0,3,6500	CC,CG,GG		0.0349,0.0,0.0231	benign	110/852	39977300	3,13003	2203	4300	6503	SO:0001583	missense	64900	exon4			CCCTTGGGGGGGT	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.330G>C	20.37:g.39977300G>C	ENSP00000362354:p.Trp110Cys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	44	17	0.386364	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606536	0.28623	0.0	3.49E-4	ENSG00000132793	ENST00000373257	T	0.76316	-1.01	4.22	2.19	0.27852	Lipin, N-terminal (1);	0.299857	0.26016	N	0.026860	T	0.53753	0.1816	N	0.08118	0	0.46874	D	0.999231	B;B	0.18968	0.002;0.032	B;B	0.19391	0.005;0.025	T	0.30592	-0.9973	9	.	.	.	-2.1502	8.2485	0.31704	0.0:0.1724:0.6488:0.1788	.	110;110	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	C	110	ENSP00000362354:W110C	.	W	+	3	0	LPIN3	39410714	1.000000	0.71417	0.971000	0.41717	0.955000	0.61496	2.688000	0.46984	0.488000	0.27723	0.557000	0.71058	TGG	G|0.999;C|0.001	0.001	strong		0.662	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		C	39977300	G	C	39977300	3	2	22	1	0	0	0	0	1	0	0	0	8920	1241	43	4	340	4	LPIN3	20	39977300	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2422184	39977300	23048220	10501	15609										
PTPRT	11122	hgsc.bcm.edu	37	chr20	41408886	41408886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagcaaggacccggacctcGtccacggcgatgtagccagg	14	13	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:41408886G>A	ENST00000373187.1	-	4	539	c.540C>T	c.(538-540)gaC>gaT	p.D180D	PTPRT_ENST00000373184.1_Silent_p.D180D|PTPRT_ENST00000373190.1_Silent_p.D180D|PTPRT_ENST00000373198.4_Silent_p.D180D|PTPRT_ENST00000356100.2_Silent_p.D180D|PTPRT_ENST00000373201.1_Silent_p.D180D|PTPRT_ENST00000373193.3_Silent_p.D180D			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	180	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCGGACCTCGTCCACGGCGA	0.532																																					p.D180D		Atlas-SNP	.											PTPRT,NS,carcinoma,0,2	PTPRT	372	2	0			c.C540T						scavenged	.						131	131	131					20																	41408886		2076	4217	6293	SO:0001819	synonymous_variant	11122	exon4			GACCTCGTCCACG	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.540C>T	20.37:g.41408886G>A		Somatic	52	1	0.0192308		WXS	Illumina HiSeq	Phase_I	65	20	0.307692	NM_007050	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																			.	.	none		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41408886	G	A	41408886	2	1	22	1	0	0	0	0	0	0	0	1	12812	1136	40	1		1	PTPRT	20	41408886	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1431586	41408886	21616634	10502	15610										
IFT52	51098	hgsc.bcm.edu	37	chr20	42252587	42252587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatcaaagcggaatcgagaGtgtctccaggagagtgatga	13	7	2	4	rs73274323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42252587G>A	ENST00000373030.3	+	10	955	c.825G>A	c.(823-825)gaG>gaA	p.E275E	IFT52_ENST00000373039.4_Silent_p.E275E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	275					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAATCGAGAGTGTCTCCAGG	0.517													G|||	68	0.0135783	0.0492	0.0043	5008	,	,		20452	0.0		0.0	False		,,,				2504	0.0				p.E275E		Atlas-SNP	.											.	IFT52	40	.	0			c.G825A						PASS	.	G		229,4177	136.5+/-172.5	8,213,1982	220	181	194		825	3.5	1	20	dbSNP_130	194	0,8600		0,0,4300	no	coding-synonymous	IFT52	NM_016004.2		8,213,6282	AA,AG,GG		0.0,5.1975,1.7607		275/438	42252587	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	51098	exon10			TCGAGAGTGTCTC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.825G>A	20.37:g.42252587G>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	127	56	0.440945	NM_016004	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	CCDS33470.1																																																																																			G|0.980;A|0.020	0.020	strong		0.517	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		A	42252587	G	A	42252587	2	1	22	1	0	0	0	0	0	0	0	1	7561	1020	36	2		2	IFT52	20	42252587	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	843701	42252587	20772933	10503	15611										
MYBL2	4605	hgsc.bcm.edu	37	chr20	42310426	42310426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttctggtgttggcaggaCgagcagctgagggccctggt	16	9	2	1	rs2227937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42310426C>T	ENST00000217026.4	+	3	244	c.117C>T	c.(115-117)gaC>gaT	p.D39D	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	39	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTGGCAGGACGAGCAGCTGA	0.587													C|||	166	0.033147	0.1188	0.013	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0				p.D39D		Atlas-SNP	.											.	MYBL2	82	.	0			c.C117T						PASS	.	C		478,3928	225.6+/-241.4	29,420,1754	79	69	72		117	-9.2	0.5	20	dbSNP_129	72	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	MYBL2	NM_002466.2		29,424,6050	TT,TC,CC		0.0465,10.8488,3.706		39/701	42310426	482,12524	2203	4300	6503	SO:0001819	synonymous_variant	4605	exon3			GCAGGACGAGCAG		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.117C>T	20.37:g.42310426C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	CCDS13322.1																																																																																			C|0.967;T|0.033	0.033	strong		0.587	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42310426	C	T	42310426	2	4	22	1	0	0	0	0	0	0	0	1	10010	535	19	1		1	MYBL2	20	42310426	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57839	42310426	20715094	10504	15612										
MYBL2	4605	hgsc.bcm.edu	37	chr20	42310449	42310449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagctgagggccctggtgaGgcagtttggacagcaggact	17	9	0	2	rs150704861	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42310449G>A	ENST00000217026.4	+	3	267	c.140G>A	c.(139-141)aGg>aAg	p.R47K	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	47	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCCTGGTGAGGCAGTTTGGA	0.617													G|||	5	0.000998403	0.003	0.0014	5008	,	,		17008	0.0		0.0	False		,,,				2504	0.0				p.R47K		Atlas-SNP	.											.	MYBL2	82	.	0			c.G140A						PASS	.	G	LYS/ARG	11,4395	17.9+/-39.9	0,11,2192	80	67	71		140	3.7	1	20	dbSNP_134	71	0,8600		0,0,4300	yes	missense	MYBL2	NM_002466.2	26	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	47/701	42310449	11,12995	2203	4300	6503	SO:0001583	missense	4605	exon3			TGGTGAGGCAGTT		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.140G>A	20.37:g.42310449G>A	ENSP00000217026:p.Arg47Lys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	122	49	0.401639	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297518	0.40694	0.002497	0.0	ENSG00000101057	ENST00000217026	T	0.12774	2.65	5.61	3.68	0.42216	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.198434	0.53938	N	0.000054	T	0.05640	0.0148	N	0.03224	-0.385	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31503	-0.9941	10	0.35671	T	0.21	-32.0158	7.5543	0.27814	0.3171:0.0:0.6829:0.0	.	47	P10244	MYBB_HUMAN	K	47	ENSP00000217026:R47K	ENSP00000217026:R47K	R	+	2	0	MYBL2	41743863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.841000	0.48223	0.872000	0.35775	0.655000	0.94253	AGG	G|0.998;A|0.002	0.002	strong		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		A	42310449	G	A	42310449	3	1	22	1	0	0	0	0	1	0	0	0	10010	1000	35	2	150	2	MYBL2	20	42310449	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	42310449	20715071	10505	15613										
JPH2	57158	hgsc.bcm.edu	37	chr20	42743454	42743454	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtcaggtcaggaggtgaacAaagaggatggccaggccgat	17	7	2	2	rs6093935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42743454A>G	ENST00000372980.3	-	5	2945	c.2073T>C	c.(2071-2073)ttT>ttC	p.F691F		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	691					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGGTGAACAAAGAGGATGG	0.622													G|||	1289	0.257388	0.469	0.219	5008	,	,		18425	0.1101		0.3101	False		,,,				2504	0.0961				p.F691F		Atlas-SNP	.											.	JPH2	86	.	0			c.T2073C						PASS	.	G		1973,2431	592.6+/-387.8	437,1099,666	117	75	89		2073	-0.3	1	20	dbSNP_114	89	2636,5964	668.3+/-402.5	404,1828,2068	no	coding-synonymous	JPH2	NM_020433.4		841,2927,2734	GG,GA,AA		30.6512,44.8002,35.4429		691/697	42743454	4609,8395	2202	4300	6502	SO:0001819	synonymous_variant	57158	exon5			GTGAACAAAGAGG	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.2073T>C	20.37:g.42743454A>G		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_020433	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																			A|0.685;G|0.315	0.315	strong		0.622	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			G	42743454	A	G	42743454	2	3	22	1	0	0	0	0	0	0	0	1	7961	127	5	2		2	JPH2	20	42743454	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	433005	42743454	20282066	10506	15614										
JPH2	57158	hgsc.bcm.edu	37	chr20	42744587	42744587	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcaaagggtgggggctcGggcggcgtggtgcgcacagc	19	11	1	0	rs74352869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42744587G>C	ENST00000372980.3	-	4	2600	c.1728C>G	c.(1726-1728)ccC>ccG	p.P576P		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	576	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTGGGGGCTCGGGCGGCGTGG	0.746													G|||	766	0.152955	0.2345	0.1254	5008	,	,		10507	0.0804		0.2247	False		,,,				2504	0.0634				p.P576P		Atlas-SNP	.											JPH2,NS,carcinoma,0,1	JPH2	86	1	0			c.C1728G						PASS	.	G		672,2910		75,522,1194	4	5	5		1728	1.3	0.9	20	dbSNP_131	5	1430,6150		154,1122,2514	no	coding-synonymous	JPH2	NM_020433.4		229,1644,3708	CC,CG,GG		18.8654,18.7605,18.8318		576/697	42744587	2102,9060	1791	3790	5581	SO:0001819	synonymous_variant	57158	exon4			GGGCTCGGGCGGC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1728C>G	20.37:g.42744587G>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	21	21	1	NM_020433	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																			G|0.824;C|0.176	0.176	strong		0.746	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			C	42744587	G	C	42744587	2	2	22	1	0	0	0	0	0	0	0	1	7961	1103	39	4		4	JPH2	20	42744587	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1133	42744587	20280933	10507	15615										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42825929	42825929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaggcctgaaaaggaataCacttccatatcatgccatct	7	11	2	1	rs8268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42825929C>T	ENST00000372970.2	-	6	822	c.642G>A	c.(640-642)gtG>gtA	p.V214V	OSER1_ENST00000255174.2_Silent_p.V214V			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	214					cellular response to hydrogen peroxide (GO:0070301)												AAAAGGAATACACTTCCATAT	0.498													C|||	1496	0.298722	0.41	0.1124	5008	,	,		23065	0.4147		0.1471	False		,,,				2504	0.317				p.V214V		Atlas-SNP	.											.	C20orf111	28	.	0			c.G642A						PASS	.	C		1506,2900	480.4+/-358.8	237,1032,934	144	123	130		642	-3.3	0.9	20	dbSNP_52	130	1152,7448	237.6+/-269.4	73,1006,3221	no	coding-synonymous	C20orf111	NM_016470.7		310,2038,4155	TT,TC,CC		13.3953,34.1807,20.4367		214/293	42825929	2658,10348	2203	4300	6503	SO:0001819	synonymous_variant	51526	exon4			GGAATACACTTCC	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.642G>A	20.37:g.42825929C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	142	76	0.535211	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	CCDS13327.1																																																																																			C|0.766;T|0.234	0.234	strong		0.498	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		T	42825929	C	T	42825929	2	4	22	1	0	0	0	0	0	0	0	1	2080	465	17	2		2	C20orf111	20	42825929	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	81342	42825929	20199591	10508	15616										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42826350	42826350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgacgacgctgagttctcActgctcctcgtgaagacttc	10	13	1	3	rs9346	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42826350A>C	ENST00000372970.2	-	6	401	c.221T>G	c.(220-222)gTg>gGg	p.V74G	OSER1_ENST00000255174.2_Missense_Mutation_p.V74G			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	74			V -> G (in dbSNP:rs9346).		cellular response to hydrogen peroxide (GO:0070301)												CTGAGTTCTCACTGCTCCTCG	0.423													A|||	1771	0.353634	0.5862	0.1354	5008	,	,		22691	0.4196		0.1531	False		,,,				2504	0.3323				p.V74G		Atlas-SNP	.											.	C20orf111	28	.	0			c.T221G						PASS	.	A	GLY/VAL	2235,2171	589.5+/-387.1	574,1087,542	59	57	58		221	1	1	20	dbSNP_52	58	1215,7385	243.9+/-273.3	80,1055,3165	yes	missense	C20orf111	NM_016470.7	109	654,2142,3707	CC,CA,AA		14.1279,49.2737,26.5262	benign	74/293	42826350	3450,9556	2203	4300	6503	SO:0001583	missense	51526	exon4			GTTCTCACTGCTC	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.221T>G	20.37:g.42826350A>C	ENSP00000362061:p.Val74Gly	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	44	25	0.568182	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	718	0.32875457875457875	294	0.5975609756097561	58	0.16022099447513813	242	0.4230769230769231	124	0.16358839050131926	A	12.62	1.992149	0.35131	0.507263	0.141279	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.54479	0.57;0.57	5.72	1.03	0.20045	.	0.636671	0.16840	N	0.197362	T	0.00012	0.0000	L	0.53249	1.67	0.09310	P	0.9999999260926	B	0.21905	0.062	B	0.30716	0.119	T	0.43845	-0.9366	9	0.66056	D	0.02	-0.5225	9.1613	0.37023	0.7244:0.0:0.2756:0.0	rs9346;rs1049822;rs3171228;rs52815417;rs58950417;rs9346	74	Q9NX31	CT111_HUMAN	G	74	ENSP00000255174:V74G;ENSP00000362061:V74G	ENSP00000255174:V74G	V	-	2	0	C20orf111	42259764	0.533000	0.26354	0.992000	0.48379	0.919000	0.55068	1.618000	0.36954	0.116000	0.18110	0.383000	0.25322	GTG	T|0.004;G|0.002	.	strong		0.423	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		C	42826350	A	C	42826350	3	2	22	1	0	0	0	0	1	0	0	0	2080	159	6	5	661	5	C20orf111	20	42826350	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	421	42826350	20199170	10509	15617										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42826379	42826379	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtgaagacttccttgtagaCctaaagaggaaaaaaaatat	8	6	0	4	rs11274	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42826379C>T	ENST00000372970.2	-	6	372	c.192G>A	c.(190-192)ggG>ggA	p.G64G	OSER1_ENST00000255174.2_Splice_Site_p.G64G			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	64					cellular response to hydrogen peroxide (GO:0070301)												TCCTTGTAGACCTAAAGAGGA	0.408													C|||	1916	0.382588	0.6346	0.1571	5008	,	,		22340	0.4782		0.1561	False		,,,				2504	0.3364				p.G64G		Atlas-SNP	.											.	C20orf111	28	.	0			c.G192A						PASS	.	C		2370,2036	589.2+/-387.1	648,1074,481	36	36	36		192	2	1	20	dbSNP_52	36	1276,7324	243.8+/-273.2	90,1096,3114	yes	coding-synonymous-near-splice	C20orf111	NM_016470.7		738,2170,3595	TT,TC,CC		14.8372,46.2097,28.0332		64/293	42826379	3646,9360	2203	4300	6503	SO:0001630	splice_region_variant	51526	exon4			TGTAGACCTAAAG	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.192-1G>A	20.37:g.42826379C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	32	15	0.46875	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	CCDS13327.1																																																																																			C|0.685;N|0.000	.	strong		0.408	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	Silent	T	42826379	C	T	42826379	5	4	22	1	0	0	0	0	0	0	1	0	2080	521	18	2	690	2	C20orf111	20	42826379	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29	42826379	20199141	10510	15618										
R3HDML	140902	hgsc.bcm.edu	37	chr20	42965863	42965863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggctggccaggcagtgaaCgccttgataatgcctaatgc	13	10	0	2	rs3746570	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:42965863C>T	ENST00000217043.2	+	1	238	c.66C>T	c.(64-66)aaC>aaT	p.N22N		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	22						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGCAGTGAACGCCTTGATAA	0.662													C|||	798	0.159345	0.1369	0.2392	5008	,	,		16802	0.0913		0.1551	False		,,,				2504	0.2076				p.N22N		Atlas-SNP	.											.	R3HDML	33	.	0			c.C66T						PASS	.	C		673,3733	274.3+/-271.8	56,561,1586	43	42	42		66	-8.9	0	20	dbSNP_107	42	1302,7296	246.7+/-275.0	96,1110,3093	no	coding-synonymous	R3HDML	NM_178491.2		152,1671,4679	TT,TC,CC		15.1431,15.2746,15.1876		22/254	42965863	1975,11029	2203	4299	6502	SO:0001819	synonymous_variant	140902	exon1			AGTGAACGCCTTG	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.66C>T	20.37:g.42965863C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_178491		Silent	SNP	ENST00000217043.2	37	CCDS13329.1																																																																																			C|0.845;T|0.155	0.155	strong		0.662	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		T	42965863	C	T	42965863	2	4	22	1	0	0	0	0	0	0	0	1	12889	535	19	1		1	R3HDML	20	42965863	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	139484	42965863	20059657	10511	15619										
TTPAL	79183	hgsc.bcm.edu	37	chr20	43117986	43117986	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggagtatgggggcacggCtggggagctggacactgcca	18	9	0	0	rs59069332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43117986C>G	ENST00000372904.3	+	6	976	c.833C>G	c.(832-834)gCt>gGt	p.A278G	TTPAL_ENST00000372906.2_3'UTR|TTPAL_ENST00000262605.4_Missense_Mutation_p.A278G	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	278	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		A -> G (in dbSNP:rs59069332).			intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GGGGGCACGGCTGGGGAGCTG	0.527													C|||	125	0.0249601	0.0923	0.0043	5008	,	,		20272	0.0		0.0	False		,,,				2504	0.0				p.A278G		Atlas-SNP	.											.	TTPAL	31	.	0			c.C833G						PASS	.	C	GLY/ALA,GLY/ALA	308,4098	166.2+/-197.5	16,276,1911	67	64	65		833,833	6.2	0.3	20	dbSNP_129	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TTPAL	NM_001039199.1,NM_024331.3	60,60	16,278,6209	GG,GC,CC		0.0233,6.9905,2.3835	benign,benign	278/343,278/343	43117986	310,12696	2203	4300	6503	SO:0001583	missense	79183	exon5			GCACGGCTGGGGA	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.833C>G	20.37:g.43117986C>G	ENSP00000361995:p.Ala278Gly	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	144	83	0.576389	NM_001039199	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	ENST00000372904.3	37	CCDS13332.2	43	0.019688644688644688	41	0.08333333333333333	2	0.0055248618784530384	0	0.0	0	0.0	C	13.21	2.168458	0.38315	0.069905	2.33E-4	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	D;D;D	0.84516	-1.86;-1.86;-1.86	6.17	6.17	0.99709	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.045191	0.85682	D	0.000000	T	0.24236	0.0587	N	0.03016	-0.435	0.80722	D	1	D;D	0.71674	0.998;0.982	P;P	0.62089	0.898;0.505	T	0.70174	-0.4944	10	0.21540	T	0.41	-16.9013	20.8794	0.99867	0.0:1.0:0.0:0.0	rs59069332	215;278	B2RA57;Q9BTX7	.;TTPAL_HUMAN	G	278;278;244	ENSP00000262605:A278G;ENSP00000361995:A278G;ENSP00000412720:A244G	ENSP00000262605:A278G	A	+	2	0	TTPAL	42551400	1.000000	0.71417	0.336000	0.25522	0.456000	0.32438	5.874000	0.69652	2.941000	0.99782	0.655000	0.94253	GCT	C|0.976;G|0.024	0.024	strong		0.527	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		G	43117986	C	G	43117986	3	3	22	1	0	0	0	0	1	0	0	0	16734	797	28	4	847	4	TTPAL	20	43117986	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	152123	43117986	19907534	10512	15620										
KCNK15	60598	hgsc.bcm.edu	37	chr20	43374694	43374694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtccagaagcggggcgctcTccggaggaagttcggcttct	16	11	2	1	rs144556326	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43374694T>C	ENST00000372861.3	+	1	274	c.143T>C	c.(142-144)cTc>cCc	p.L48P	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	48					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGGGGCGCTCTCCGGAGGAAG	0.706													T|||	106	0.0211661	0.0726	0.0144	5008	,	,		11543	0.0		0.0	False		,,,				2504	0.0				p.L48P		Atlas-SNP	.											.	KCNK15	19	.	0			c.T143C						PASS	.	T	PRO/LEU	166,4206		2,162,2022	10	15	13		143	2.9	0.9	20	dbSNP_134	13	6,8538		0,6,4266	yes	missense	KCNK15	NM_022358.3	98	2,168,6288	CC,CT,TT		0.0702,3.7969,1.3317	probably-damaging	48/331	43374694	172,12744	2186	4272	6458	SO:0001583	missense	60598	exon1			GCGCTCTCCGGAG	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.143T>C	20.37:g.43374694T>C	ENSP00000361952:p.Leu48Pro	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_022358	Q52LL3|Q9HBC8	Missense_Mutation	SNP	ENST00000372861.3	37	CCDS13337.1	43	0.019688644688644688	36	0.07317073170731707	7	0.019337016574585635	0	0.0	0	0.0	T	14.77	2.635968	0.47049	0.037969	7.02E-4	ENSG00000124249	ENST00000372861	T	0.17854	2.25	4.04	2.91	0.33838	.	0.349704	0.29892	N	0.010923	T	0.03827	0.0108	M	0.87180	2.865	0.80722	D	1	D	0.63880	0.993	P	0.61070	0.883	T	0.00295	-1.1839	10	0.87932	D	0	.	8.6904	0.34262	0.1705:0.0:0.0:0.8295	.	48	Q9H427	KCNKF_HUMAN	P	48	ENSP00000361952:L48P	ENSP00000361952:L48P	L	+	2	0	KCNK15	42808108	0.968000	0.33430	0.914000	0.36105	0.012000	0.07955	4.497000	0.60367	0.577000	0.29470	0.455000	0.32223	CTC	T|0.981;C|0.019	0.019	strong		0.706	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	NM_022358		C	43374694	T	C	43374694	3	2	22	1	0	0	0	0	1	0	0	0	8062	1551	54	3	145	3	KCNK15	20	43374694	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	256708	43374694	19650826	10513	15621										
KCNS1	3787	hgsc.bcm.edu	37	chr20	43727155	43727155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcacaggcgccgcgcctgCtcctccgacgccgcggcctg	13	20	0	0	rs13043825	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43727155C>T	ENST00000306117.1	-	4	654	c.258G>A	c.(256-258)gaG>gaA	p.E86E	KCNS1_ENST00000537075.1_Silent_p.E86E	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	86					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)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCCGCGCCTGCTCCTCCGACG	0.741													C|||	658	0.13139	0.0113	0.1729	5008	,	,		8507	0.131		0.2893	False		,,,				2504	0.1022				p.E86E		Atlas-SNP	.											.	KCNS1	30	.	0			c.G258A						PASS	.	C		198,3818		14,170,1824	8	10	9		258	3.8	1	20	dbSNP_121	9	1830,5974		196,1438,2268	no	coding-synonymous	KCNS1	NM_002251.3		210,1608,4092	TT,TC,CC		23.4495,4.9303,17.1574		86/527	43727155	2028,9792	2008	3902	5910	SO:0001819	synonymous_variant	3787	exon4			CGCCTGCTCCTCC	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.258G>A	20.37:g.43727155C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	11	8	0.727273	NM_002251	A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	CCDS13342.1																																																																																			C|0.838;T|0.162	0.162	strong		0.741	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43727155	C	T	43727155	2	4	22	1	0	0	0	0	0	0	0	1	8088	796	28	2		2	KCNS1	20	43727155	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	352461	43727155	19298365	10514	15622										
SEMG1	6406	hgsc.bcm.edu	37	chr20	43836237	43836237	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaaatcacaacgacatcTaggtggaagtcaacaactgc	8	10	3	0	rs61729393	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43836237T>A	ENST00000372781.3	+	2	356	c.299T>A	c.(298-300)cTa>cAa	p.L100Q	SEMG1_ENST00000244069.6_Missense_Mutation_p.L100Q	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	100	Repeat-rich region. {ECO:0000250}.			L -> Q (in Ref. 3; AAP82463). {ECO:0000305}.	insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACGACATCTAGGTGGAAGT	0.393													T|||	63	0.0125799	0.0371	0.0086	5008	,	,		22065	0.0		0.004	False		,,,				2504	0.0041				p.L100Q		Atlas-SNP	.											.	SEMG1	71	.	0			c.T299A						PASS	.	T	GLN/LEU	144,4262	100.7+/-139.4	1,142,2060	143	123	130		299	-2.1	0	20	dbSNP_129	130	18,8582	12.6+/-44.7	0,18,4282	yes	missense	SEMG1	NM_003007.3	113	1,160,6342	AA,AT,TT		0.2093,3.2683,1.2456		100/463	43836237	162,12844	2203	4300	6503	SO:0001583	missense	6406	exon2			GACATCTAGGTGG		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.299T>A	20.37:g.43836237T>A	ENSP00000361867:p.Leu100Gln	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	193	92	0.476684	NM_003007	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	23	0.010531135531135532	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	T	10.92	1.485748	0.26686	0.032683	0.002093	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.09445	2.98;2.98	1.07	-2.13	0.07144	.	.	.	.	.	T	0.07007	0.0178	L	0.54323	1.7	0.09310	N	1	D;D;D	0.63880	0.985;0.993;0.988	P;D;P	0.71414	0.693;0.973;0.796	T	0.08513	-1.0718	9	0.62326	D	0.03	.	4.0698	0.09877	0.0:0.4746:0.0:0.5254	rs61729393	100;100;100	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	Q	100	ENSP00000244069:L100Q;ENSP00000361867:L100Q	ENSP00000244069:L100Q	L	+	2	0	SEMG1	43269651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.238000	0.01199	-0.505000	0.06568	-0.321000	0.08615	CTA	T|0.988;A|0.012	0.012	strong		0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		A	43836237	T	A	43836237	3	1	22	1	0	0	0	0	1	0	0	0	14044	1522	53	5	305	5	SEMG1	20	43836237	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	109082	43836237	19189283	10515	15623										
SEMG1	6406	hgsc.bcm.edu	37	chr20	43837053	43837053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaaagatgtatcccaacGcagtatttatagccaaactg	8	9	0	2	rs2233887	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43837053G>T	ENST00000372781.3	+	2	1172	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312L	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTATCCCAACGCAGTATTTAT	0.413													G|||	63	0.0125799	0.0371	0.0086	5008	,	,		22334	0.0		0.004	False		,,,				2504	0.0041				p.R372L		Atlas-SNP	.											SEMG1,bladder,carcinoma,+1,3	SEMG1	71	3	0			c.G1115T						PASS	.	G	LEU/ARG	143,4263	100.3+/-138.9	1,141,2061	75	70	72		1115	-0.4	0	20	dbSNP_98	72	18,8582	12.6+/-44.7	0,18,4282	yes	missense	SEMG1	NM_003007.3	102	1,159,6343	TT,TG,GG		0.2093,3.2456,1.2379		372/463	43837053	161,12845	2203	4300	6503	SO:0001583	missense	6406	exon2			CCCAACGCAGTAT		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1115G>T	20.37:g.43837053G>T	ENSP00000361867:p.Arg372Leu	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	166	85	0.512048	NM_003007	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	23	0.010531135531135532	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	6.094	0.385541	0.11524	0.032456	0.002093	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06218	3.33;3.33	0.951	-0.436	0.12275	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42849	-0.9427	9	0.72032	D	0.01	.	3.6742	0.08286	0.0:0.0:0.5676:0.4324	rs2233887;rs52805273;rs2233887	312;372	P04279-2;P04279	.;SEMG1_HUMAN	L	312;372	ENSP00000244069:R312L;ENSP00000361867:R372L	ENSP00000244069:R312L	R	+	2	0	SEMG1	43270467	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.312000	0.08113	-0.121000	0.11787	0.404000	0.27445	CGC	G|0.984;T|0.016	0.016	strong		0.413	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43837053	G	T	43837053	3	4	22	1	0	0	0	0	1	0	0	0	14044	1087	38	4	1121	4	SEMG1	20	43837053	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	816	43837053	19188467	10516	15624										
SEMG2	6407	hgsc.bcm.edu	37	chr20	43851101	43851101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaaaaaatctcagtcaagaTcaagagcatggccggaaggc	10	9	3	2	rs2233902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43851101T>C	ENST00000372769.3	+	2	918	c.828T>C	c.(826-828)gaT>gaC	p.D276D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	276	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAGTCAAGATCAAGAGCATG	0.398													T|||	79	0.0157748	0.0484	0.0101	5008	,	,		22551	0.0		0.004	False		,,,				2504	0.0041				p.D276D		Atlas-SNP	.											.	SEMG2	92	.	0			c.T828C						PASS	.	T		177,4229	114.6+/-152.6	3,171,2029	93	90	91		828	-1.5	0	20	dbSNP_98	91	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous	SEMG2	NM_003008.2		3,189,6311	CC,CT,TT		0.2093,4.0172,1.4993		276/583	43851101	195,12811	2203	4300	6503	SO:0001819	synonymous_variant	6407	exon2			TCAAGATCAAGAG		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.828T>C	20.37:g.43851101T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	151	78	0.516556	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	CCDS13346.1																																																																																			T|0.985;C|0.015	0.015	strong		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		C	43851101	T	C	43851101	2	2	22	1	0	0	0	0	0	0	0	1	14045	1432	50	2		2	SEMG2	20	43851101	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	14048	43851101	19174419	10517	15625										
MATN4	8785	hgsc.bcm.edu	37	chr20	43926573	43926573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacctggacagatgctgcCtctgaggttctccagcaggt	11	13	3	2	rs2227275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43926573C>T	ENST00000372754.1	-	8	1695	c.1687G>A	c.(1687-1689)Ggc>Agc	p.G563S	MATN4_ENST00000342716.4_Missense_Mutation_p.G522S|MATN4_ENST00000372756.1_Missense_Mutation_p.G522S|MATN4_ENST00000360607.6_Missense_Mutation_p.G481S|MATN4_ENST00000353917.5_Missense_Mutation_p.G440S|MATN4_ENST00000537548.1_Missense_Mutation_p.G522S|MATN4_ENST00000372751.4_Missense_Mutation_p.G373S			O95460	MATN4_HUMAN	matrilin 4	563				G -> S (in Ref. 2; BAC11083). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGATGCTGCCTCTGAGGTTC	0.622													C|||	1095	0.21865	0.261	0.3415	5008	,	,		17973	0.1121		0.2773	False		,,,				2504	0.1237				p.G522S		Atlas-SNP	.											.	MATN4	57	.	0			c.G1564A						PASS	.	C	SER/GLY,SER/GLY,SER/GLY	1121,3285	398.3+/-330.8	136,849,1218	76	78	78		1564,1441,1318	4.6	1	20	dbSNP_98	78	2126,6474	366.3+/-334.3	262,1602,2436	yes	missense,missense,missense	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	56,56,56	398,2451,3654	TT,TC,CC		24.7209,25.4426,24.9654	benign,benign,benign	522/582,481/541,440/500	43926573	3247,9759	2203	4300	6503	SO:0001583	missense	8785	exon8			TGCTGCCTCTGAG	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1687G>A	20.37:g.43926573C>T	ENSP00000361840:p.Gly563Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	124	50	0.403226	NM_003833	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37		542	0.24816849816849818	138	0.2804878048780488	114	0.3149171270718232	78	0.13636363636363635	212	0.2796833773087071	C	11.07	1.530132	0.27387	0.254426	0.247209	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.64	4.64	0.57946	.	0.164448	0.29002	N	0.013458	T	0.00012	0.0000	N	0.11427	0.14	0.32213	P	0.576256	B;B;B	0.20550	0.002;0.045;0.046	B;B;B	0.23574	0.024;0.047;0.041	T	0.02282	-1.1183	9	0.11182	T	0.66	.	13.0781	0.59099	0.0:0.6907:0.3093:0.0	rs2227275;rs17426884;rs52795698;rs56588055;rs59660933;rs2227275	440;481;522	A6NNA4;O95460-4;O95460-2	.;.;.	S	373;563;522;440;481;522;522;563;373	ENSP00000361839:G373S;ENSP00000361840:G563S;ENSP00000361842:G522S;ENSP00000243983:G440S;ENSP00000353819:G481S;ENSP00000343164:G522S;ENSP00000440328:G522S;ENSP00000361837:G373S	ENSP00000255132:G563S	G	-	1	0	MATN4	43359987	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.529000	0.35996	2.661000	0.90470	0.644000	0.83932	GGC	C|0.757;T|0.243	0.243	strong		0.622	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			T	43926573	C	T	43926573	3	4	22	1	0	0	0	0	1	0	0	0	9336	681	24	2	193	2	MATN4	20	43926573	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75472	43926573	19098947	10518	15626										
MATN4	8785	hgsc.bcm.edu	37	chr20	43933163	43933163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgttcatggcgtactggatTgccagtcccgtcatggtgcc	12	12	2	0	rs2233094	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43933163T>C	ENST00000372754.1	-	2	356	c.348A>G	c.(346-348)gcA>gcG	p.A116A	RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000342716.4_Silent_p.A116A|MATN4_ENST00000372756.1_Silent_p.A116A|MATN4_ENST00000360607.6_Silent_p.A116A|MATN4_ENST00000353917.5_Silent_p.A116A|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000537548.1_Silent_p.A116A|MATN4_ENST00000372751.4_Intron			O95460	MATN4_HUMAN	matrilin 4	116	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGTACTGGATTGCCAGTCCCG	0.687													T|||	2021	0.403554	0.2239	0.3444	5008	,	,		16128	0.755		0.2634	False		,,,				2504	0.4703				p.A116A		Atlas-SNP	.											MATN4,NS,carcinoma,0,1	MATN4	57	1	0			c.A348G						PASS	.	T	,,	985,3411		120,745,1333	19	16	17		348,348,348	-9.6	0.1	20	dbSNP_98	17	2373,6207		337,1699,2254	no	coding-synonymous,coding-synonymous,coding-synonymous	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	,,	457,2444,3587	CC,CT,TT		27.6573,22.4067,25.8785	,,	116/582,116/541,116/500	43933163	3358,9618	2198	4290	6488	SO:0001819	synonymous_variant	8785	exon3			CTGGATTGCCAGT	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.348A>G	20.37:g.43933163T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	70	37	0.528571	NM_030592	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37																																																																																				T|0.676;C|0.324	0.324	strong		0.687	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			C	43933163	T	C	43933163	2	2	22	1	0	0	0	0	0	0	0	1	9336	1799	63	2		2	MATN4	20	43933163	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6590	43933163	19092357	10519	15627										
RBPJL	11317	hgsc.bcm.edu	37	chr20	43938284	43938284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtgtgaacagactgtgcGgatcctgcatgccaaggtgg	14	9	0	2	rs35032855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43938284G>A	ENST00000343694.3	+	3	281	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	RBPJL_ENST00000372743.1_Missense_Mutation_p.R70Q|RBPJL_ENST00000372741.3_Missense_Mutation_p.R70Q|MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000360607.6_5'Flank|MATN4_ENST00000353917.5_5'Flank|MATN4_ENST00000537548.1_5'Flank|MATN4_ENST00000372751.4_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	70					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGACTGTGCGGATCCTGCAT	0.607													G|||	57	0.0113818	0.034	0.0058	5008	,	,		19804	0.0		0.004	False		,,,				2504	0.0041				p.R70Q		Atlas-SNP	.											.	RBPJL	67	.	0			c.G209A						PASS	.	G	GLN/ARG	165,4241	109.5+/-147.8	3,159,2041	114	93	100		209	5.5	1	20	dbSNP_126	100	17,8583	12.6+/-44.7	0,17,4283	yes	missense	RBPJL	NM_014276.2	43	3,176,6324	AA,AG,GG		0.1977,3.7449,1.3994	benign	70/518	43938284	182,12824	2203	4300	6503	SO:0001583	missense	11317	exon3			CTGTGCGGATCCT	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.209G>A	20.37:g.43938284G>A	ENSP00000341243:p.Arg70Gln	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	93	39	0.419355	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	23	0.010531135531135532	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	20.6	4.012876	0.75161	0.037449	0.001977	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.82711	-1.64;-1.64;-1.64	5.53	5.53	0.82687	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.860937	0.10327	N	0.688044	T	0.41213	0.1149	N	0.22421	0.69	0.20307	N	0.999911	P;P	0.46621	0.881;0.708	B;B	0.35073	0.195;0.189	T	0.57573	-0.7788	10	0.66056	D	0.02	-7.9496	12.2068	0.54356	0.0:0.0:0.7307:0.2693	rs35032855	70;70	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	Q	70	ENSP00000361828:R70Q;ENSP00000361826:R70Q;ENSP00000341243:R70Q	ENSP00000341243:R70Q	R	+	2	0	RBPJL	43371698	0.992000	0.36948	0.998000	0.56505	0.917000	0.54804	1.776000	0.38594	2.622000	0.88805	0.456000	0.33151	CGG	G|0.988;A|0.012	0.012	strong		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		A	43938284	G	A	43938284	3	1	22	1	0	0	0	0	1	0	0	0	13162	1116	39	1	219	1	RBPJL	20	43938284	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5121	43938284	19087236	10520	15628										
RBPJL	11317	hgsc.bcm.edu	37	chr20	43940531	43940542	+	In_Frame_Del	DEL	CAGCGCGTCCGG	CAGCGCGTCCGG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcggttacatgggactggaCagcgcgtccggcagcgccac					rs142744285|rs367731607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	CAGCGCGTCCGG	CAGCGCGTCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43940531_43940542delCAGCGCGTCCGG	ENST00000343694.3	+	5	453_464	c.381_392delCAGCGCGTCCGG	c.(379-393)gacagcgcgtccggc>gac	p.SASG128del	RBPJL_ENST00000372743.1_In_Frame_Del_p.SASG128del|RBPJL_ENST00000372741.3_In_Frame_Del_p.SASG128del	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	128					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TGGGACTGGACAGCGCGTCCGGCAGCGCCACT	0.66											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73	0.0145767	0.0454	0.0072	5008	,	,		19337	0.0		0.004	False		,,,				2504	0.0041				p.127_131del		Pindel,Atlas-Indel	.											.	RBPJL	67	.	0			c.380_391del						PASS	.			129,3693		18,93,1800						4.2	1		dbSNP_134	9	24,7388		7,10,3689	no	coding	RBPJL	NM_014276.2		25,103,5489	A1A1,A1R,RR		0.3238,3.3752,1.3619				153,11081				SO:0001651	inframe_deletion	11317	exon5			.	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.381_392delCAGCGCGTCCGG	20.37:g.43940531_43940542delCAGCGCGTCCGG	ENSP00000341243:p.Ser128_Gly131del	Somatic	127	.	.	920	WXS	Illumina HiSeq	Phase_I	118	45	0.381	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	In_Frame_Del	DEL	ENST00000343694.3	37	CCDS13349.1																																																																																			CAGCGCGTCCGG|0.987;-|0.013	0.013	strong		0.66	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		-	43940542	CAGCGCGTCCGG	-	43940531	7	5	22	1	0	1	0	1	0	0	0	0	13162	477	17	0	399	0	RBPJL	20	43940531	In_Frame_Del	DEL	CAGCGCGTCCGG	TCGA-G8-6324-01A-11D-2210-10	2247	43940531	19084989	10521	15629										
RBPJL	11317	hgsc.bcm.edu	37	chr20	43945377	43945377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtggcggccttctgcagCgactggcgctggctgcgcgc	17	14	1	0	rs35220957	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43945377C>A	ENST00000343694.3	+	12	1404	c.1332C>A	c.(1330-1332)agC>agA	p.S444R	RBPJL_ENST00000372743.1_Missense_Mutation_p.S443R|RBPJL_ENST00000372741.3_Silent_p.R448R|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	444	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTTCTGCAGCGACTGGCGCT	0.701													C|||	73	0.0145767	0.0454	0.0072	5008	,	,		12791	0.0		0.004	False		,,,				2504	0.0041				p.S444R		Atlas-SNP	.											.	RBPJL	67	.	0			c.C1332A						PASS	.	C	ARG/SER	179,4221		1,177,2022	17	23	21		1332	-2	0.7	20	dbSNP_126	21	17,8571		0,17,4277	yes	missense	RBPJL	NM_014276.2	110	1,194,6299	AA,AC,CC		0.198,4.0682,1.5091	possibly-damaging	444/518	43945377	196,12792	2200	4294	6494	SO:0001583	missense	11317	exon12			CTGCAGCGACTGG	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1332C>A	20.37:g.43945377C>A	ENSP00000341243:p.Ser444Arg	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	39	25	0.641026	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	29	0.013278388278388278	22	0.044715447154471545	3	0.008287292817679558	0	0.0	4	0.005277044854881266	C	16.39	3.108689	0.56291	0.040682	0.00198	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.17054	2.3;2.3	5.48	-2.02	0.07388	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.121014	0.56097	D	0.000034	T	0.02727	0.0082	L	0.42245	1.32	0.37489	D	0.916303	D	0.57257	0.979	P	0.48189	0.57	T	0.35101	-0.9802	10	0.19147	T	0.46	-19.8204	5.1298	0.14903	0.2229:0.4288:0.0:0.3483	rs35220957;rs59797878	444	Q9UBG7	RBPJL_HUMAN	R	443;444	ENSP00000361828:S443R;ENSP00000341243:S444R	ENSP00000341243:S444R	S	+	3	2	RBPJL	43378791	0.191000	0.23288	0.652000	0.29579	0.983000	0.72400	-0.568000	0.05909	-0.198000	0.10333	0.549000	0.68633	AGC	C|0.988;A|0.012	0.012	strong		0.701	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		A	43945377	C	A	43945377	3	1	22	1	0	0	0	0	1	0	0	0	13162	767	27	4	1378	4	RBPJL	20	43945377	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4846	43945377	19080143	10522	15630										
RBPJL	11317	hgsc.bcm.edu	37	chr20	43945487	43945487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacaccccggaatacagcgTgcggccgggtcaccccggcg	13	17	1	0	rs34078698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43945487T>C	ENST00000343694.3	+	12	1514	c.1442T>C	c.(1441-1443)gTg>gCg	p.V481A	RBPJL_ENST00000372743.1_Missense_Mutation_p.V480A|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	481	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAATACAGCGTGCGGCCGGGT	0.667													C|||	84	0.0167732	0.0484	0.0086	5008	,	,		13248	0.0		0.004	False		,,,				2504	0.0102				p.V481A		Atlas-SNP	.											RBPJL,colon,carcinoma,+1,1	RBPJL	67	1	0			c.T1442C						PASS	.	C	ALA/VAL	200,4206	790.0+/-415.0	4,192,2007	41	50	47		1442	-1.1	0.3	20	dbSNP_126	47	17,8583	809.0+/-407.2	0,17,4283	yes	missense	RBPJL	NM_014276.2	64	4,209,6290	CC,CT,TT		0.1977,4.5393,1.6685	benign	481/518	43945487	217,12789	2203	4300	6503	SO:0001583	missense	11317	exon12			ACAGCGTGCGGCC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1442T>C	20.37:g.43945487T>C	ENSP00000341243:p.Val481Ala	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	57	24	0.421053	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	33	0.01510989010989011	25	0.0508130081300813	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	1.885	-0.456982	0.04540	0.045393	0.001977	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.35789	1.29;1.29	5.06	-1.14	0.09741	.	1.055390	0.07430	N	0.895594	T	0.01156	0.0038	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20405	-1.0276	10	0.18710	T	0.47	-0.9329	2.3328	0.04239	0.1025:0.2059:0.3513:0.3403	rs34078698;rs60037526	481	Q9UBG7	RBPJL_HUMAN	A	480;481	ENSP00000361828:V480A;ENSP00000341243:V481A	ENSP00000341243:V481A	V	+	2	0	RBPJL	43378901	0.000000	0.05858	0.271000	0.24616	0.392000	0.30506	-0.499000	0.06413	-0.341000	0.08376	-0.386000	0.06593	GTG	T|0.986;C|0.014	0.014	strong		0.667	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		C	43945487	T	C	43945487	3	2	22	1	0	0	0	0	1	0	0	0	13162	1696	59	2	1488	2	RBPJL	20	43945487	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110	43945487	19080033	10523	15631										
SDC4	6385	hgsc.bcm.edu	37	chr20	43976991	43976991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgactccgcctacgaagaAcagcagcagcgcgaacagac	12	14	0	2	rs2228384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:43976991A>G	ENST00000372733.3	-	1	73	c.34T>C	c.(34-36)Ttc>Ctc	p.F12L	SDC4_ENST00000537976.1_5'UTR	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	12			F -> L (in dbSNP:rs4458268). {ECO:0000269|PubMed:1500433, ECO:0000269|Ref.6}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTACGAAGAACAGCAGCAGC	0.736			T	ROS1	NSCLC								G|||	1564	0.3123	0.1324	0.3012	5008	,	,		7892	0.4216		0.3807	False		,,,				2504	0.3804				p.F12L		Atlas-SNP	.		Dom	yes		20	20q12	6385	syndecan 4		E	SDC4,NS,carcinoma,0,1	SDC4	16	1	0			c.T34C						PASS	.	G	LEU/PHE	704,3632		68,568,1532	14	16	16		34	1.9	0.7	20	dbSNP_111	16	2893,5617		542,1809,1904	yes	missense	SDC4	NM_002999.3	22	610,2377,3436	GG,GA,AA		33.9953,16.2362,28.0009	benign	12/199	43976991	3597,9249	2168	4255	6423	SO:0001583	missense	6385	exon1			CGAAGAACAGCAG	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.34T>C	20.37:g.43976991A>G	ENSP00000361818:p.Phe12Leu	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	67	24	0.358209	NM_002999	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	CCDS13350.1	735	0.33653846153846156	49	0.09959349593495935	128	0.35359116022099446	262	0.458041958041958	296	0.39050131926121373	G	11.74	1.727977	0.30593	0.162362	0.339953	ENSG00000124145	ENST00000372733	T	0.26660	1.72	3.88	1.9	0.25705	.	1.457070	0.04340	N	0.353868	T	0.00012	0.0000	N	0.00210	-1.845	0.09310	P	0.99999838508	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.09590	T	0.72	-1.4689	5.8347	0.18601	0.3534:0.0:0.6466:0.0	rs4458268;rs17173359;rs60954343;rs4458268	12	P31431	SDC4_HUMAN	L	12	ENSP00000361818:F12L	ENSP00000361818:F12L	F	-	1	0	SDC4	43410405	0.991000	0.36638	0.736000	0.30914	0.806000	0.45545	0.205000	0.17356	0.091000	0.17302	-0.186000	0.12905	TTC	A|0.686;G|0.314	0.314	strong		0.736	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		G	43976991	A	G	43976991	3	3	22	1	0	0	0	0	1	0	0	0	13954	43	2	2	582	2	SDC4	20	43976991	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	31504	43976991	19048529	10524	15632										
TP53TG5	27296	hgsc.bcm.edu	37	chr20	44004156	44004158	+	In_Frame_Del	DEL	ATT	ATT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgatctcctggaactcttcAttattttgttttgttttatt					rs562359566|rs76663890|rs10546815	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	ATT	ATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44004156_44004158delATT	ENST00000372726.3	-	4	445_447	c.289_291delAAT	c.(289-291)aatdel	p.N97del	TP53TG5_ENST00000537995.1_In_Frame_Del_p.N81del|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	97					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GGAACTCTTCATTATTTTGTTTT	0.493														1936	0.386581	0.1914	0.4452	5008	,	,		18977	0.255		0.659	False		,,,				2504	0.4642				p.97_98del		Pindel,Atlas-Indel	.											.	TP53TG5	36	.	0			c.290_292del						PASS	.		,	1076,3182		141,794,1194					,	-3.1	0		dbSNP_119	93	5309,2943		1723,1863,540	no	coding,utr-3	TP53TG5,SYS1	NM_014477.2,NM_001099791.2	,	1864,2657,1734	A1A1,A1R,RR		35.6641,25.2701,48.9608	,	,		6385,6125				SO:0001651	inframe_deletion	27296	exon4			.	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.289_291delAAT	20.37:g.44004159_44004161delATT	ENSP00000361811:p.Asn97del	Somatic	59	.	.		WXS	Illumina HiSeq	Phase_I	56	39	0.696	NM_014477		In_Frame_Del	DEL	ENST00000372726.3	37	CCDS13352.1																																																																																			ATT|0.574;-|0.426	0.426	strong		0.493	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		-	44004158	ATT	-	44004156	7	5	22	1	0	1	0	1	0	0	0	0	16388	214	8	0	589	0	TP53TG5	20	44004156	In_Frame_Del	DEL	ATT	TCGA-G8-6324-01A-11D-2210-10	27165	44004156	19021364	10525	15633										
DBNDD2	55861	hgsc.bcm.edu	37	chr20	44038574	44038574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttttctctctgggcagggAtggacaaccatttggaggag	14	8	2	0	rs17856031|rs1127497	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44038574A>G	ENST00000372720.3	+	4	805	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372712.2_Missense_Mutation_p.M94V|DBNDD2_ENST00000372710.3_Missense_Mutation_p.M196V|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.M94V|DBNDD2_ENST00000357275.2_Missense_Mutation_p.M94V|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.M94V|DBNDD2_ENST00000372717.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_3'UTR	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	192				M -> V (in Ref. 1; AAF67656, 2; AAM77463, 3; BAA91235, 6; EAW75854/EAW75848 and 7; AAH12818/AAH01105). {ECO:0000305}.	negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGGCAGGGATGGACAACCA	0.547													G|||	3812	0.761182	0.9039	0.7738	5008	,	,		16863	0.5109		0.7803	False		,,,				2504	0.7975				p.M196V		Atlas-SNP	.											.	DBNDD2	30	.	0			c.A586G						PASS	.	G	VAL/MET,,VAL/MET,,VAL/MET,,VAL/MET,VAL/MET,VAL/MET	2963,343		1327,309,17	29	33	32		280,,280,,586,,280,280,574	2.6	1	20	dbSNP_86	32	5434,1304		2200,1034,135	yes	missense,utr-3,missense,utr-3,missense,utr-3,missense,missense,missense	DBNDD2	NM_001048221.2,NM_001048222.2,NM_001048223.2,NM_001048224.2,NM_001048225.2,NM_001048226.2,NM_001197139.1,NM_001197140.1,NM_018478.3	21,,21,,21,,21,21,21	3527,1343,152	GG,GA,AA		19.3529,10.3751,16.3978	benign,,benign,,benign,,benign,benign,benign	94/162,,94/162,,196/264,,94/162,94/162,192/260	44038574	8397,1647	1653	3369	5022	SO:0001583	missense	55861	exon3			GCAGGGATGGACA	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.574A>G	20.37:g.44038574A>G	ENSP00000361805:p.Met192Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_001048225	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	CCDS56193.1	1609	0.7367216117216118	445	0.9044715447154471	277	0.7651933701657458	289	0.5052447552447552	598	0.7889182058047494	G	11.60	1.685725	0.29962	0.896249	0.806471	ENSG00000244274	ENST00000372723;ENST00000357275;ENST00000372720;ENST00000360981;ENST00000372712;ENST00000372710	T;T;T;T;T;T	0.28069	1.69;1.69;1.65;1.69;1.69;1.63	5.63	2.6	0.31112	.	0.423208	0.22782	N	0.055701	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	9	0.15952	T	0.53	.	6.8441	0.23979	0.1488:0.2697:0.5815:0.0	rs1127497;rs2243553;rs3183556;rs11541739;rs17435039;rs52823093;rs1127497	192	Q9BQY9	DBND2_HUMAN	V	94;94;192;94;94;196	ENSP00000361808:M94V;ENSP00000349822:M94V;ENSP00000361805:M192V;ENSP00000354250:M94V;ENSP00000361797:M94V;ENSP00000361795:M196V	ENSP00000349822:M94V	M	+	1	0	DBNDD2	43471988	0.498000	0.26075	0.977000	0.42913	0.741000	0.42261	0.144000	0.16135	0.058000	0.16222	-0.279000	0.10071	ATG	A|0.252;G|0.748	0.748	strong		0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		G	44038574	A	G	44038574	3	3	22	1	0	0	0	0	1	0	0	0	4254	333	12	2	352	2	DBNDD2	20	44038574	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	34418	44038574	18986946	10526	15634										
PIGT	51604	hgsc.bcm.edu	37	chr20	44052992	44052992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagtggaccgagtacacGccagatcctaaccatggctt	10	12	0	2	rs13217	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44052992G>A	ENST00000279036.6	+	10	1451	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	PIGT_ENST00000341555.5_Silent_p.T263T|PIGT_ENST00000535404.1_Silent_p.T302T|PIGT_ENST00000279035.9_Silent_p.T355T|PIGT_ENST00000545755.1_Silent_p.T195T|PIGT_ENST00000372689.5_Silent_p.T390T|PIGT_ENST00000543458.2_Silent_p.T401T	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	457					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.T457T(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCGAGTACACGCCAGATCCTA	0.582													G|||	1375	0.274561	0.0628	0.3199	5008	,	,		19965	0.2411		0.5129	False		,,,				2504	0.318				p.T457T		Atlas-SNP	.											PIGT_ENST00000279036,caecum,carcinoma,0,3	PIGT	85	3	1	Substitution - coding silent(1)	stomach(1)	c.G1371A						PASS	.	G	,,,	640,3766	272.8+/-271.0	50,540,1613	82	76	78		1203,1170,1065,1371	-7.4	0.8	20	dbSNP_52	78	4441,4159	587.6+/-392.2	1138,2165,997	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PIGT	NM_001184728.1,NM_001184729.1,NM_001184730.1,NM_015937.4	,,,	1188,2705,2610	AA,AG,GG		48.3605,14.5256,39.0666	,,,	401/523,390/512,355/477,457/579	44052992	5081,7925	2203	4300	6503	SO:0001819	synonymous_variant	51604	exon10			GTACACGCCAGAT		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1371G>A	20.37:g.44052992G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	134	62	0.462687	NM_015937	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																			G|0.654;A|0.346	0.346	strong		0.582	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		A	44052992	G	A	44052992	2	1	22	1	0	0	0	0	0	0	0	1	11899	1074	38	1		1	PIGT	20	44052992	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14418	44052992	18972528	10527	15635										
PIGT	51604	hgsc.bcm.edu	37	chr20	44054349	44054349	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgtggtggccgtgtgctaTggctccttctacaatctcct	10	12	2	0	rs707577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44054349T>C	ENST00000279036.6	+	12	1700	c.1620T>C	c.(1618-1620)taT>taC	p.Y540Y	PIGT_ENST00000341555.5_Silent_p.Y346Y|PIGT_ENST00000279035.9_Silent_p.Y438Y|PIGT_ENST00000545755.1_Silent_p.Y278Y|PIGT_ENST00000535404.1_Silent_p.Y385Y|PIGT_ENST00000543458.2_Silent_p.Y484Y|PIGT_ENST00000372689.5_Silent_p.Y473Y	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	540					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCGTGTGCTATGGCTCCTTCT	0.637													t|||	3554	0.709665	0.8169	0.7061	5008	,	,		14966	0.5466		0.7505	False		,,,				2504	0.6933				p.Y540Y		Atlas-SNP	.											PIGT_ENST00000279036,NS,carcinoma,0,2	PIGT	85	2	0			c.T1620C						PASS	.	T	,,,	3523,883	740.8+/-411.2	1407,709,87	70	46	54		1452,1419,1314,1620	-7.7	0.3	20	dbSNP_86	54	6545,2055	718.9+/-406.2	2510,1525,265	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PIGT	NM_001184728.1,NM_001184729.1,NM_001184730.1,NM_015937.4	,,,	3917,2234,352	CC,CT,TT		23.8953,20.0409,22.5896	,,,	484/523,473/512,438/477,540/579	44054349	10068,2938	2203	4300	6503	SO:0001819	synonymous_variant	51604	exon12			GTGCTATGGCTCC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1620T>C	20.37:g.44054349T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_015937	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																			T|0.259;C|0.741	0.741	strong		0.637	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		C	44054349	T	C	44054349	2	2	22	1	0	0	0	0	0	0	0	1	11899	1471	51	2		2	PIGT	20	44054349	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1357	44054349	18971171	10528	15636										
SPINLW1	57119	hgsc.bcm.edu	37	chr20	44174306	44174306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatctaaacatttttttccGcagctgaagacacaacactt	5	10	1	3	rs374858005		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44174306G>A	ENST00000354280.4	-	2	261	c.195C>T	c.(193-195)tgC>tgT	p.C65C	EPPIN_ENST00000409554.1_Silent_p.C65C|EPPIN_ENST00000336443.3_Silent_p.C49C|EPPIN_ENST00000555685.1_Silent_p.C65C|EPPIN-WFDC6_ENST00000504988.1_Silent_p.C65C	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	65	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATTTTTTTCCGCAGCTGAAGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20884	0.0		0.0	False		,,,				2504	0.001				p.C65C		Atlas-SNP	.											.	.	.	.	0			c.C195T						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	320	284	296		195,195	-3.6	0.9	20		296	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPINLW1,SPINLW1-WFDC6	NM_001198986.1,NM_020398.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	65/180,65/134	44174306	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	100526773	exon2			TTTTCCGCAGCTG	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.195C>T	20.37:g.44174306G>A		Somatic	256	1	0.00390625		WXS	Illumina HiSeq	Phase_I	278	132	0.47482	NM_001198986	A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	CCDS13359.1																																																																																			.	.	weak		0.453	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			A	44174306	G	A	44174306	2	1	22	1	0	0	0	0	0	0	0	1	15066	1079	38	1		1	SPINLW1	20	44174306	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	119957	44174306	18851214	10529	15637										
WFDC8	90199	hgsc.bcm.edu	37	chr20	44184375	44184375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgttctgcaggcatcctcaTttaagaagttgttggcattc	9	10	2	1	rs2250860	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44184375T>C	ENST00000357199.4	-	4	488	c.410A>G	c.(409-411)aAt>aGt	p.N137S	WFDC8_ENST00000289953.2_Missense_Mutation_p.N137S	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	137	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.		N -> S (in dbSNP:rs2250860). {ECO:0000269|PubMed:12206714}.			extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGCATCCTCATTTAAGAAGTT	0.438													C|||	1419	0.283347	0.3707	0.3444	5008	,	,		19547	0.0585		0.4016	False		,,,				2504	0.2321				p.N137S		Atlas-SNP	.											.	WFDC8	28	.	0			c.A410G						PASS	.	C	SER/ASN,SER/ASN	1650,2756	658.8+/-400.5	297,1056,850	136	120	126		410,410	-4.4	0	20	dbSNP_100	126	3568,5032	628.9+/-398.2	770,2028,1502	yes	missense,missense	WFDC8	NM_130896.2,NM_181510.2	46,46	1067,3084,2352	CC,CT,TT		41.4884,37.4489,40.1199	benign,benign	137/242,137/242	44184375	5218,7788	2203	4300	6503	SO:0001583	missense	90199	exon4			TCCTCATTTAAGA	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.410A>G	20.37:g.44184375T>C	ENSP00000361735:p.Asn137Ser	Somatic	183	1	0.00546448		WXS	Illumina HiSeq	Phase_I	188	188	1	NM_181510	E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	CCDS13361.1	634	0.2902930402930403	172	0.34959349593495936	131	0.36187845303867405	27	0.0472027972027972	304	0.40105540897097625	C	0.065	-1.215450	0.01542	0.374489	0.414884	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.51325	0.71;0.71	4.26	-4.39	0.03611	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.838014	0.10808	N	0.631962	T	0.00012	0.0000	N	0.00387	-1.565	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.21690	-1.0238	9	0.02654	T	1	.	6.9775	0.24683	0.0:0.2021:0.3888:0.4091	rs2250860;rs17348584;rs58854739;rs2250860	137	Q8IUA0	WFDC8_HUMAN	S	137	ENSP00000361735:N137S;ENSP00000289953:N137S	ENSP00000289953:N137S	N	-	2	0	WFDC8	43617789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.703000	0.01900	-1.210000	0.02627	-0.119000	0.15052	AAT	T|0.663;C|0.337	0.337	strong		0.438	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			C	44184375	T	C	44184375	3	2	22	1	0	0	0	0	1	0	0	0	17353	1493	52	2	327	2	WFDC8	20	44184375	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10069	44184375	18841145	10530	15638										
SPINT4	391253	hgsc.bcm.edu	37	chr20	44351095	44351095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtggtgttaataaaattgCggagaagatatgtggagacc	15	3	0	3	rs16990631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44351095C>A	ENST00000279058.3	+	1	106	c.89C>A	c.(88-90)gCg>gAg	p.A30E		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	30			A -> E (in dbSNP:rs16990631).			extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				AATAAAATTGCGGAGAAGATA	0.403													C|||	130	0.0259585	0.0212	0.0389	5008	,	,		22012	0.0		0.0398	False		,,,				2504	0.0358				p.A30E		Atlas-SNP	.											.	SPINT4	17	.	0			c.C89A						PASS	.	C	GLU/ALA	102,4304	80.4+/-118.8	1,100,2102	146	137	140		89	-3.5	0	20	dbSNP_123	140	406,8194	128.8+/-187.0	13,380,3907	yes	missense	SPINT4	NM_178455.1	107	14,480,6009	AA,AC,CC		4.7209,2.315,3.9059	benign	30/100	44351095	508,12498	2203	4300	6503	SO:0001583	missense	391253	exon1			AAATTGCGGAGAA	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 137", "serine peptidase inhibitor, Kunitz type 4"	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.89C>A	20.37:g.44351095C>A	ENSP00000279058:p.Ala30Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	192	99	0.515625	NM_178455	Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	CCDS33477.1	49	0.022435897435897436	12	0.024390243902439025	12	0.03314917127071823	0	0.0	25	0.032981530343007916	C	9.484	1.098836	0.20552	0.02315	0.047209	ENSG00000149651	ENST00000279058	T	0.54675	0.56	3.97	-3.46	0.04767	.	1.136080	0.06683	N	0.768367	T	0.05777	0.0151	.	.	.	0.09310	N	1	B	0.31077	0.307	B	0.23419	0.046	T	0.11690	-1.0577	9	0.66056	D	0.02	0.4807	0.4623	0.00518	0.2335:0.3326:0.1375:0.2964	rs16990631;rs16990631	30	Q6UDR6	SPIT4_HUMAN	E	30	ENSP00000279058:A30E	ENSP00000279058:A30E	A	+	2	0	SPINT4	43784509	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.705000	0.05052	-0.636000	0.05524	-0.143000	0.13931	GCG	C|0.963;A|0.037	0.037	strong		0.403	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		A	44351095	C	A	44351095	3	1	22	1	0	0	0	0	1	0	0	0	15069	768	27	4	91	4	SPINT4	20	44351095	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	166720	44351095	18674425	10531	15639										
WFDC3	140686	hgsc.bcm.edu	37	chr20	44417593	44417593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggaatgtctcggcagatcCgaccacagcctgtggtgcag	13	11	1	1	rs73122754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44417593C>A	ENST00000243938.4	-	3	271	c.188G>T	c.(187-189)cGg>cTg	p.R63L	WFDC3_ENST00000372630.2_Intron|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.R63L	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	63	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCGGCAGATCCGACCACAGCC	0.532													C|||	141	0.028155	0.0212	0.0389	5008	,	,		17601	0.0		0.0497	False		,,,				2504	0.0368				p.R63L		Atlas-SNP	.											.	WFDC3	18	.	0			c.G188T						PASS	.	C	LEU/ARG	109,4297	84.4+/-122.9	0,109,2094	216	197	204		188	-2.9	0	20	dbSNP_131	204	511,8089	145.4+/-201.1	20,471,3809	yes	missense	WFDC3	NM_080614.1	102	20,580,5903	AA,AC,CC		5.9419,2.4739,4.767	benign	63/232	44417593	620,12386	2203	4300	6503	SO:0001583	missense	140686	exon3			CAGATCCGACCAC	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.188G>T	20.37:g.44417593C>A	ENSP00000243938:p.Arg63Leu	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	137	70	0.510949	NM_080614	A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	CCDS33478.1	58|58	0.026556776556776556|0.026556776556776556	12|12	0.024390243902439025|0.024390243902439025	12|12	0.03314917127071823|0.03314917127071823	0|0	0.0|0.0	34|34	0.044854881266490766|0.044854881266490766	C|C	0.961|0.961	-0.703300|-0.703300	0.03255|0.03255	0.024739|0.024739	0.059419|0.059419	ENSG00000124116|ENSG00000124116	ENST00000337205|ENST00000243938;ENST00000372632	.|T;T	.|0.73047	.|-0.71;-0.71	4.29|4.29	-2.87|-2.87	0.05700|0.05700	.|Whey acidic protein, 4-disulphide core (5);	.|0.965279	.|0.08394	.|N	.|0.952462	.|T	.|0.12902	.|0.0313	L|L	0.39085|0.39085	1.19|1.19	0.09310|0.09310	N|N	1|1	.|B	.|0.27882	.|0.192	.|B	.|0.26416	.|0.069	.|T	.|0.17561	.|-1.0365	.|10	.|0.41790	.|T	.|0.15	0.0047|0.0047	9.1823|9.1823	0.37149|0.37149	0.0:0.4443:0.0:0.5557|0.0:0.4443:0.0:0.5557	.|.	.|63	.|Q8IUB2	.|WFDC3_HUMAN	X|L	57|63	.|ENSP00000243938:R63L;ENSP00000361715:R63L	.|ENSP00000243938:R63L	G|R	-|-	1|2	0|0	WFDC3|WFDC3	43851000|43851000	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.354000|0.354000	0.29330|0.29330	-1.533000|-1.533000	0.02215|0.02215	-0.658000|-0.658000	0.05366|0.05366	-0.150000|-0.150000	0.13652|0.13652	GGA|CGG	C|0.952;A|0.048	0.048	strong		0.532	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			A	44417593	C	A	44417593	3	1	22	1	0	0	0	0	1	0	0	0	17350	652	23	4	527	4	WFDC3	20	44417593	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66498	44417593	18607927	10532	15640										
TNNC2	7125	hgsc.bcm.edu	37	chr20	44452697	44452697	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagattcgatctcctcgtcCgtcacgtgctccccggaggc	11	15	2	1	rs4629	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44452697C>A	ENST00000372555.3	-	5	476	c.384G>T	c.(382-384)acG>acT	p.T128T	TNNC2_ENST00000372557.1_Silent_p.T113T	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	128	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	TCTCCTCGTCCGTCACGTGCT	0.612													C|||	2027	0.404752	0.1815	0.5476	5008	,	,		17060	0.5308		0.5378	False		,,,				2504	0.3384				p.T128T		Atlas-SNP	.											.	TNNC2	12	.	0			c.G384T						PASS	.	C		1148,3258	406.4+/-333.9	155,838,1210	162	141	148		384	-5.9	0.9	20	dbSNP_52	148	4562,4038	596.6+/-393.6	1206,2150,944	no	coding-synonymous	TNNC2	NM_003279.2		1361,2988,2154	AA,AC,CC		46.9535,26.0554,43.9028		128/161	44452697	5710,7296	2203	4300	6503	SO:0001819	synonymous_variant	7125	exon5			CTCGTCCGTCACG		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.384G>T	20.37:g.44452697C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	115	62	0.53913	NM_003279	Q6FH92	Silent	SNP	ENST00000372555.3	37	CCDS13375.1																																																																																			C|0.569;A|0.431	0.431	strong		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279		A	44452697	C	A	44452697	2	1	22	1	0	0	0	0	0	0	0	1	16322	639	23	4		4	TNNC2	20	44452697	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35104	44452697	18572823	10533	15641										
SNX21	90203	hgsc.bcm.edu	37	chr20	44469290	44469290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgcagctctacaccctcGccgtgatcggcccaggaccg	10	19	1	1	rs4638862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44469290G>A	ENST00000491381.1	+	4	528	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	SNX21_ENST00000372542.1_Missense_Mutation_p.A145T|SNX21_ENST00000462307.1_Silent_p.S157S|SNX21_ENST00000372541.1_Silent_p.S148S|SNX21_ENST00000342644.5_Missense_Mutation_p.A154T|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	154	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.		A -> T (in dbSNP:rs4638862). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CTACACCCTCGCCGTGATCGG	0.642													G|||	1754	0.35024	0.0658	0.5202	5008	,	,		14028	0.4276		0.5298	False		,,,				2504	0.3497				p.A154T		Atlas-SNP	.											.	SNX21	23	.	0			c.G460A						PASS	.	G	,,THR/ALA,THR/ALA	692,3714	286.0+/-278.5	64,564,1575	84	87	86		453,471,460,460	2.4	1	20	dbSNP_111	86	4586,4014	591.5+/-392.8	1222,2142,936	yes	coding-synonymous,coding-synonymous,missense,missense	SNX21	NM_001042632.1,NM_001042633.1,NM_033421.2,NM_152897.1	,,58,58	1286,2706,2511	AA,AG,GG		46.6744,15.7059,40.5813	,,probably-damaging,probably-damaging	151/153,157/159,154/374,154/200	44469290	5278,7728	2203	4300	6503	SO:0001583	missense	90203	exon4			ACCCTCGCCGTGA	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.460G>A	20.37:g.44469290G>A	ENSP00000418593:p.Ala154Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	108	44	0.407407	NM_033421	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	CCDS13377.1	873	0.39972527472527475	34	0.06910569105691057	172	0.47513812154696133	252	0.4405594405594406	415	0.5474934036939314	G	8.862	0.947087	0.18356	0.157059	0.533256	ENSG00000124104	ENST00000491381;ENST00000342644;ENST00000372542	T;T;T	0.27720	1.65;1.65;1.65	4.34	2.39	0.29439	Phox homologous domain (4);	0.416437	0.25869	N	0.027770	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999974067	B;B;B	0.20988	0.004;0.007;0.05	B;B;B	0.15484	0.005;0.005;0.013	T	0.45644	-0.9247	8	0.22706	T	0.39	-4.6567	3.9307	0.09283	0.1956:0.0:0.5137:0.2907	rs4638862;rs17851752;rs52829951;rs58614376;rs4638862	145;154;154	Q5JZH3;Q969T3;Q5JZH5	.;SNX21_HUMAN;.	T	154;154;145	ENSP00000418593:A154T;ENSP00000344586:A154T;ENSP00000361620:A145T	ENSP00000344586:A154T	A	+	1	0	SNX21	43902697	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.246000	0.32803	0.473000	0.27368	0.462000	0.41574	GCC	G|0.611;A|0.389	0.389	strong		0.642	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		A	44469290	G	A	44469290	3	1	22	1	0	0	0	0	1	0	0	0	14893	1087	38	1	489	1	SNX21	20	44469290	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16593	44469290	18556230	10534	15642										
ZSWIM3	140831	hgsc.bcm.edu	37	chr20	44506418	44506418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggtgtcaagcctctttcgGgaacagcagtcgctgctgga	13	10	2	0	rs1045493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44506418G>A	ENST00000255152.2	+	2	1430	c.1221G>A	c.(1219-1221)cgG>cgA	p.R407R	ZSWIM3_ENST00000454862.2_Silent_p.R401R	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	407							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCCTCTTTCGGGAACAGCAGT	0.493													G|||	2389	0.477037	0.3268	0.6441	5008	,	,		22282	0.4573		0.5517	False		,,,				2504	0.5051				p.R407R		Atlas-SNP	.											.	ZSWIM3	96	.	0			c.G1221A						PASS	.	G		1739,2667	519.6+/-370.0	352,1035,816	86	69	74		1221	2.5	0.7	20	dbSNP_86	74	4836,3764	615.5+/-396.4	1367,2102,831	no	coding-synonymous	ZSWIM3	NM_080752.3		1719,3137,1647	AA,AG,GG		43.7674,39.4689,49.4464		407/697	44506418	6575,6431	2203	4300	6503	SO:0001819	synonymous_variant	140831	exon2			CTTTCGGGAACAG	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1221G>A	20.37:g.44506418G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	132	56	0.424242	NM_080752	Q9BR13	Silent	SNP	ENST00000255152.2	37	CCDS13381.1																																																																																			G|0.506;A|0.494	0.494	strong		0.493	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		A	44506418	G	A	44506418	2	1	22	1	0	0	0	0	0	0	0	1	18239	1219	43	2		2	ZSWIM3	20	44506418	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37128	44506418	18519102	10535	15643										
ZSWIM1	90204	hgsc.bcm.edu	37	chr20	44511627	44511627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagatgttccaagtattCaagaagtttaatccagcatg	8	9	1	2	rs11086984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44511627C>T	ENST00000372523.1	+	2	491	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ZSWIM1_ENST00000372520.1_Silent_p.F132F	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	132						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAAGTATTCAAGAAGTTTA	0.542													C|||	210	0.0419329	0.0227	0.0735	5008	,	,		21210	0.001		0.1064	False		,,,				2504	0.0215				p.F132F		Atlas-SNP	.											.	ZSWIM1	35	.	0			c.C396T						PASS	.	C		181,4225	116.7+/-154.6	5,171,2027	112	103	106		396	4.4	1	20	dbSNP_120	106	896,7704	200.3+/-244.1	49,798,3453	no	coding-synonymous	ZSWIM1	NM_080603.4		54,969,5480	TT,TC,CC		10.4186,4.108,8.2808		132/486	44511627	1077,11929	2203	4300	6503	SO:0001819	synonymous_variant	90204	exon2			AGTATTCAAGAAG	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.396C>T	20.37:g.44511627C>T		Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	198	109	0.550505	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	ENST00000372523.1	37	CCDS13382.2																																																																																			C|0.930;T|0.070	0.070	strong		0.542	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		T	44511627	C	T	44511627	2	4	22	1	0	0	0	0	0	0	0	1	18237	825	29	2		2	ZSWIM1	20	44511627	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5209	44511627	18513893	10536	15644										
ZSWIM1	90204	hgsc.bcm.edu	37	chr20	44512013	44512013	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttccagagcctcgaggtcaCcacccacatcctcagccagt	7	18	2	1	rs115926000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44512013C>G	ENST00000372523.1	+	2	877	c.782C>G	c.(781-783)aCc>aGc	p.T261S	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.T261S	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	261						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CTCGAGGTCACCACCCACATC	0.562													C|||	11	0.00219649	0.0068	0.0	5008	,	,		20333	0.0		0.002	False		,,,				2504	0.0				p.T261S		Atlas-SNP	.											.	ZSWIM1	35	.	0			c.C782G						PASS	.	C	SER/THR	31,4375	37.6+/-69.7	0,31,2172	110	94	99		782	3.1	1	20	dbSNP_132	99	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ZSWIM1	NM_080603.4	58	0,35,6468	GG,GC,CC		0.0465,0.7036,0.2691	benign	261/486	44512013	35,12971	2203	4300	6503	SO:0001583	missense	90204	exon2			AGGTCACCACCCA	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.782C>G	20.37:g.44512013C>G	ENSP00000361601:p.Thr261Ser	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	203	106	0.522168	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	C	12.19	1.864270	0.32977	0.007036	4.65E-4	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24151	1.87;1.87	5.13	3.11	0.35812	.	0.437391	0.18795	U	0.130955	T	0.09905	0.0243	N	0.24115	0.695	0.19300	N	0.999977	B	0.30482	0.281	B	0.30029	0.11	T	0.26744	-1.0094	10	0.10902	T	0.67	-20.7697	8.035	0.30486	0.0:0.6753:0.0:0.3247	.	261	Q9BR11	ZSWM1_HUMAN	S	261	ENSP00000361601:T261S;ENSP00000361598:T261S	ENSP00000361598:T261S	T	+	2	0	ZSWIM1	43945420	0.268000	0.24133	0.996000	0.52242	0.990000	0.78478	0.495000	0.22483	0.669000	0.31146	0.555000	0.69702	ACC	C|0.998;G|0.002	0.002	strong		0.562	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		G	44512013	C	G	44512013	3	3	22	1	0	0	0	0	1	0	0	0	18237	507	18	4	784	4	ZSWIM1	20	44512013	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	386	44512013	18513507	10537	15645										
SLC12A5	57468	hgsc.bcm.edu	37	chr20	44680412	44680412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtcccatctgatccagtcCgggggcctcggggggctgca	16	13	1	1	rs3746522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44680412C>T	ENST00000454036.2	+	18	2398	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	SLC12A5_ENST00000243964.3_Silent_p.S760S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	783					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGATCCAGTCCGGGGGCCTCG	0.592													C|||	866	0.172923	0.0121	0.1816	5008	,	,		13847	0.3393		0.2197	False		,,,				2504	0.1646				p.S783S		Atlas-SNP	.											SLC12A5,caecum,carcinoma,0,1	SLC12A5	181	1	0			c.C2349T						PASS	.	C	,	193,4213	120.0+/-157.7	6,181,2016	86	83	84		2349,2280	-8.4	0.8	20	dbSNP_107	84	1978,6622	347.9+/-326.8	223,1532,2545	no	coding-synonymous,coding-synonymous	SLC12A5	NM_001134771.1,NM_020708.4	,	229,1713,4561	TT,TC,CC		23.0,4.3804,16.6923	,	783/1140,760/1117	44680412	2171,10835	2203	4300	6503	SO:0001819	synonymous_variant	57468	exon18			CCAGTCCGGGGGC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2349C>T	20.37:g.44680412C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	85	41	0.482353	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																			C|0.824;T|0.176	0.176	strong		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44680412	C	T	44680412	2	4	22	1	0	0	0	0	0	0	0	1	14386	639	23	1		1	SLC12A5	20	44680412	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168399	44680412	18345108	10538	15646										
NCOA5	57727	hgsc.bcm.edu	37	chr20	44691350	44691350	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgctattggccgtcacTgtgccactattgaagaggct	12	10	1	2	rs1537028	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:44691350T>G	ENST00000290231.6	-	8	1493	c.1329A>C	c.(1327-1329)acA>acC	p.T443T		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCGTCACTGTGCCACTAT	0.567													T|||	1996	0.398562	0.289	0.4856	5008	,	,		16946	0.5675		0.3479	False		,,,				2504	0.363				p.T443T		Atlas-SNP	.											.	NCOA5	58	.	0			c.A1329C						PASS	.	T		1125,3281	401.3+/-331.9	147,831,1225	114	119	118		1329	-7.1	0.3	20	dbSNP_88	118	2790,5810	441.8+/-359.9	456,1878,1966	no	coding-synonymous	NCOA5	NM_020967.2		603,2709,3191	GG,GT,TT		32.4419,25.5334,30.1015		443/580	44691350	3915,9091	2203	4300	6503	SO:0001819	synonymous_variant	57727	exon8			CGTCACTGTGCCA		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1329A>C	20.37:g.44691350T>G		Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	273	124	0.454212	NM_020967	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	ENST00000290231.6	37	CCDS13392.1																																																																																			A|0.003;C|0.002	.	strong		0.567	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		G	44691350	T	G	44691350	2	3	22	1	0	0	0	0	0	0	0	1	10232	1567	55	5		5	NCOA5	20	44691350	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10938	44691350	18334170	10539	15647										
ELMO2	63916	hgsc.bcm.edu	37	chr20	45014804	45014804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtcccacggtgatttcctcGgctatcttctggtacagact	9	12	2	2	rs201990540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:45014804G>A	ENST00000290246.6	-	9	830	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ELMO2_ENST00000352077.2_Silent_p.A210A|ELMO2_ENST00000445496.2_Silent_p.A29A|ELMO2_ENST00000396391.1_Silent_p.A212A|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.A212A|ELMO2_ENST00000372176.1_Silent_p.A124A	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	212					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGATTTCCTCGGCTATCTTCT	0.527													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		19968	0.0		0.0	False		,,,				2504	0.0				p.A212A		Atlas-SNP	.											ELMO2,NS,carcinoma,-1,1	ELMO2	51	1	0			c.C636T						scavenged	.						135	124	128					20																	45014804		2203	4300	6503	SO:0001819	synonymous_variant	63916	exon8			TTCCTCGGCTATC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.636C>T	20.37:g.45014804G>A		Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_182764	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																			G|0.998;A|0.002	0.002	strong		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		A	45014804	G	A	45014804	2	1	22	1	0	0	0	0	0	0	0	1	5066	1103	39	1		1	ELMO2	20	45014804	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	323454	45014804	18010716	10540	15648										
SLC13A3	64849	hgsc.bcm.edu	37	chr20	45194904	45194904	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggaagatgatgatggtCgccgtgttgctggcaaactc	15	8	0	3	rs202391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:45194904C>G	ENST00000279027.4	-	11	1476	c.1458G>C	c.(1456-1458)gcG>gcC	p.A486A	SLC13A3_ENST00000472148.1_Silent_p.A404A|SLC13A3_ENST00000413164.2_Silent_p.A436A|SLC13A3_ENST00000495082.1_Silent_p.A439A|SLC13A3_ENST00000396360.1_Silent_p.A404A|SLC13A3_ENST00000290317.5_Silent_p.A439A|SLC13A3_ENST00000435032.1_Silent_p.A71A	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	486					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGATGATGGTCGCCGTGTTGC	0.612													G|||	987	0.197085	0.3313	0.1153	5008	,	,		15426	0.1885		0.1392	False		,,,				2504	0.1421				p.A486A		Atlas-SNP	.											.	SLC13A3	88	.	0			c.G1458C						PASS	.	G	,,,,	1342,3064	690.9+/-405.3	215,912,1076	94	96	95		1317,1308,1212,1164,1458	3.3	1	20	dbSNP_79	95	1203,7397	762.2+/-407.6	85,1033,3182	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC13A3	NM_001011554.2,NM_001193339.1,NM_001193340.1,NM_001193342.1,NM_022829.5	,,,,	300,1945,4258	GG,GC,CC		13.9884,30.4585,19.5679	,,,,	439/556,436/553,404/521,388/505,486/603	45194904	2545,10461	2203	4300	6503	SO:0001819	synonymous_variant	64849	exon11			GATGGTCGCCGTG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1458G>C	20.37:g.45194904C>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_022829	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	CCDS13400.1																																																																																			C|0.801;G|0.199	0.199	strong		0.612	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			G	45194904	C	G	45194904	2	3	22	1	0	0	0	0	0	0	0	1	14393	871	31	4		4	SLC13A3	20	45194904	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180100	45194904	17830616	10541	15649										
EYA2	2139	hgsc.bcm.edu	37	chr20	45816757	45816757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctggaggcactgaggcaCgccctggagctggagtattt	15	10	0	1	rs3818015	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:45816757C>T	ENST00000327619.5	+	16	1967	c.1593C>T	c.(1591-1593)caC>caT	p.H531H	EYA2_ENST00000317304.6_Silent_p.H501H|EYA2_ENST00000357410.3_Silent_p.H452H	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	531					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CACTGAGGCACGCCCTGGAGC	0.602													C|||	680	0.135783	0.2776	0.0259	5008	,	,		17715	0.2024		0.004	False		,,,				2504	0.089				p.H531H	Pancreas(120;56 1725 18501 25218 43520)	Atlas-SNP	.											.	EYA2	85	.	0			c.C1593T						PASS	.	C	,	958,3444		94,770,1337	88	59	69		1593,1356	2.2	1	20	dbSNP_107	69	38,8554		1,36,4259	no	coding-synonymous,coding-synonymous	EYA2	NM_005244.4,NM_172110.3	,	95,806,5596	TT,TC,CC		0.4423,21.7628,7.6651	,	531/539,452/460	45816757	996,11998	2201	4296	6497	SO:0001819	synonymous_variant	2139	exon16			GAGGCACGCCCTG		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1593C>T	20.37:g.45816757C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_005244	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																			C|0.904;T|0.096	0.096	strong		0.602	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		T	45816757	C	T	45816757	2	4	22	1	0	0	0	0	0	0	0	1	5329	535	19	1		1	EYA2	20	45816757	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	621853	45816757	17208763	10542	15650										
ZMYND8	23613	hgsc.bcm.edu	37	chr20	45867852	45867852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggggagaatggctgcccAccgtcgtggatggtggagtt	18	9	0	1	rs2275801	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:45867852A>G	ENST00000311275.7	-	15	2508	c.2255T>C	c.(2254-2256)gTg>gCg	p.V752A	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V752A|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V772A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V752A|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V747A|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V700A|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V779A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V747A|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V772A|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V752A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V689A|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V772A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	752			V -> A (in dbSNP:rs2275801). {ECO:0000269|Ref.3}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATGGCTGCCCACCGTCGTGGA	0.572													G|||	1640	0.327476	0.6399	0.1772	5008	,	,		16000	0.247		0.0557	False		,,,				2504	0.3742				p.V772A		Atlas-SNP	.											.	ZMYND8	166	.	0			c.T2315C						PASS	.	G	ALA/VAL,ALA/VAL,ALA/VAL	2358,2048	539.8+/-375.3	632,1094,477	60	75	70		2315,2315,2240	5.4	0	20	dbSNP_100	70	570,8030	771.2+/-407.7	27,516,3757	yes	missense,missense,missense	ZMYND8	NM_012408.3,NM_183047.1,NM_183048.1	64,64,64	659,1610,4234	GG,GA,AA		6.6279,46.4821,22.5127	benign,benign,benign	772/1161,772/1189,747/1136	45867852	2928,10078	2203	4300	6503	SO:0001583	missense	23613	exon15			CTGCCCACCGTCG	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2255T>C	20.37:g.45867852A>G	ENSP00000312237:p.Val752Ala	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	23	23	1	NM_183047	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		555	0.2541208791208791	313	0.6361788617886179	60	0.16574585635359115	146	0.25524475524475526	36	0.047493403693931395	G	0.089	-1.169650	0.01660	0.535179	0.066279	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.38	5.38	0.77491	.	0.922586	0.09196	N	0.835269	T	0.00012	0.0000	N	0.00621	-1.32	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.001;0.001;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44697	-0.9311	9	0.02654	T	1	-18.1125	11.426	0.50012	0.1451:0.0:0.8549:0.0	rs2275801;rs52806673;rs60735070;rs2275801	779;747;747;727;746;772;752;747;772;772;752;689;747;700;700;752	F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	A	747;752;753;773;772;752;779;752;689;772;747;700	ENSP00000354166:V747A;ENSP00000312237:V752A;ENSP00000335537:V772A;ENSP00000379577:V752A;ENSP00000439800:V779A;ENSP00000348246:V752A;ENSP00000396725:V689A;ENSP00000418210:V772A;ENSP00000361093:V747A;ENSP00000443086:V700A	ENSP00000262975:V753A	V	-	2	0	ZMYND8	45301259	0.250000	0.23951	0.029000	0.17559	0.155000	0.21991	3.397000	0.52572	1.274000	0.44362	-0.186000	0.12905	GTG	A|0.741;C|0.002	.	strong		0.572	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		G	45867852	A	G	45867852	3	3	22	1	0	0	0	0	1	0	0	0	17708	159	6	2	1287	2	ZMYND8	20	45867852	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51095	45867852	17157668	10543	15651										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46264805	46264805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatatgaatattacccaaCcaagtaaagtaagcaatcag	5	9	1	1	rs2230781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:46264805C>T	ENST00000371998.3	+	12	1866	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	NCOA3_ENST00000341724.6_Missense_Mutation_p.P569S|NCOA3_ENST00000372004.3_Missense_Mutation_p.P559S|NCOA3_ENST00000371997.3_Missense_Mutation_p.P569S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	559	Ser-rich.		P -> S (in dbSNP:rs2230781). {ECO:0000269|Ref.5}.		androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATTACCCAACCAAGTAAAGT	0.443													C|||	96	0.0191693	0.0651	0.0101	5008	,	,		17392	0.0		0.003	False		,,,				2504	0.0				p.P569S		Atlas-SNP	.											.	NCOA3	156	.	0			c.C1705T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	246,4160	143.1+/-178.2	7,232,1964	90	89	89		1675,1705,1675,1675	3.7	0.8	20	dbSNP_98	89	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense,missense	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	74,74,74,74	7,236,6260	TT,TC,CC		0.0465,5.5833,1.9222	benign,benign,benign,benign	559/1424,569/1416,559/1421,559/1425	46264805	250,12756	2203	4300	6503	SO:0001583	missense	8202	exon12			ACCCAACCAAGTA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1675C>T	20.37:g.46264805C>T	ENSP00000361066:p.Pro559Ser	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	155	87	0.56129	NM_001174088	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	38	0.0173992673992674	33	0.06707317073170732	3	0.008287292817679558	0	0.0	2	0.002638522427440633	C	8.392	0.839981	0.16891	0.055833	4.65E-4	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.72	3.7	0.42460	.	0.351919	0.27627	N	0.018540	T	0.01061	0.0035	L	0.44542	1.39	0.26797	N	0.969286	B;B;B;B;B;B	0.25312	0.088;0.123;0.088;0.088;0.029;0.038	B;B;B;B;B;B	0.30572	0.103;0.117;0.103;0.103;0.098;0.071	T	0.24870	-1.0148	10	0.05833	T	0.94	-3.6234	16.0462	0.80722	0.0:0.7459:0.2541:0.0	rs2230781;rs52817019;rs2230781	559;569;563;559;559;559	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	559;569;559;559;569	ENSP00000342123:P569S;ENSP00000361073:P559S;ENSP00000361066:P559S;ENSP00000361065:P569S	ENSP00000345671:P559S	P	+	1	0	NCOA3	45698212	0.993000	0.37304	0.828000	0.32881	0.927000	0.56198	1.799000	0.38824	0.693000	0.31634	0.655000	0.94253	CCA	C|0.981;T|0.019	0.019	strong		0.443	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46264805	C	T	46264805	3	4	22	1	0	0	0	0	1	0	0	0	10230	507	18	2	1743	2	NCOA3	20	46264805	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	396953	46264805	16760715	10544	15652										
NCOA3	8202	hgsc.bcm.edu	37	chr20	46268493	46268493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggtggctctattcccacAttgcctcttcggtctaatag	9	12	3	0	rs2076546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:46268493A>G	ENST00000371998.3	+	15	3071	c.2880A>G	c.(2878-2880)acA>acG	p.T960T	NCOA3_ENST00000372004.3_Silent_p.T960T|NCOA3_ENST00000371997.3_Silent_p.T955T|NCOA3_ENST00000341724.6_Silent_p.T890T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	960					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTATTCCCACATTGCCTCTTC	0.488													G|||	673	0.134385	0.2549	0.0879	5008	,	,		20124	0.0933		0.0845	False		,,,				2504	0.0982				p.T960T		Atlas-SNP	.											.	NCOA3	156	.	0			c.A2880G						PASS	.	G	,,,	1039,3367	722.1+/-409.2	123,793,1287	91	93	92		2880,2865,2880,2880	-0.8	0	20	dbSNP_96	92	752,7848	784.0+/-407.6	43,666,3591	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	166,1459,4878	GG,GA,AA		8.7442,23.5815,13.7706	,,,	960/1424,955/1416,960/1421,960/1425	46268493	1791,11215	2203	4300	6503	SO:0001819	synonymous_variant	8202	exon15			TCCCACATTGCCT	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2880A>G	20.37:g.46268493A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	84	52	0.619048	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			A|0.863;G|0.137	0.137	strong		0.488	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46268493	A	G	46268493	2	3	22	1	0	0	0	0	0	0	0	1	10230	204	8	2		2	NCOA3	20	46268493	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3688	46268493	16757027	10545	15653										
SULF2	55959	hgsc.bcm.edu	37	chr20	46292910	46292910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagcctctgtgcttgaggCggcctttgtgctgggtgtgg	18	8	1	1	rs10048853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:46292910C>T	ENST00000359930.4	-	15	2872	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	SULF2_ENST00000467815.1_Missense_Mutation_p.R674H|SULF2_ENST00000361612.4_Missense_Mutation_p.R674H|SULF2_ENST00000484875.1_Missense_Mutation_p.R674H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	674			R -> H (in dbSNP:rs10048853).		bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGCTTGAGGCGGCCTTTGTG	0.607											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	90	0.0179712	0.0582	0.0159	5008	,	,		17857	0.0		0.002	False		,,,				2504	0.0				p.R674H		Atlas-SNP	.											.	SULF2	131	.	0			c.G2021A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG	189,4217	116.7+/-154.6	4,181,2018	55	47	50		2021,2021,2021	3.1	1	20	dbSNP_119	50	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	29,29,29	4,184,6315	TT,TC,CC		0.0349,4.2896,1.4762	benign,benign,benign	674/871,674/871,674/868	46292910	192,12814	2203	4300	6503	SO:0001583	missense	55959	exon15			TTGAGGCGGCCTT	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2021G>A	20.37:g.46292910C>T	ENSP00000353007:p.Arg674His	Somatic	92	0	0	938	WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_001161841	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	25|25	0.011446886446886446|0.011446886446886446	16|16	0.032520325203252036|0.032520325203252036	7|7	0.019337016574585635|0.019337016574585635	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	C|C	13.33|13.33	2.203972|2.203972	0.38905|0.38905	0.042896|0.042896	3.49E-4|3.49E-4	ENSG00000196562|ENSG00000196562	ENST00000495544|ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	.|T;T;T;T	.|0.22134	.|1.97;1.97;1.97;1.97	5.08|5.08	3.1|3.1	0.35709|0.35709	.|Alkaline-phosphatase-like, core domain (1);	.|0.302855	.|0.32769	.|N	.|0.005668	T|T	0.01523|0.01523	0.0049|0.0049	N|N	0.04959|0.04959	-0.14|-0.14	0.29204|0.29204	N|N	0.875005|0.875005	.|B;B	.|0.09022	.|0.002;0.001	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.29518|0.29518	-1.0009|-1.0009	5|10	.|0.13108	.|T	.|0.6	-22.8637|-22.8637	4.1427|4.1427	0.10201|0.10201	0.0:0.5786:0.1901:0.2313|0.0:0.5786:0.1901:0.2313	rs10048853;rs10048853|rs10048853;rs10048853	.|674;674	.|Q8IWU5-2;Q8IWU5	.|.;SULF2_HUMAN	T|H	29|674;674;674;93;674	.|ENSP00000353007:R674H;ENSP00000418290:R674H;ENSP00000354662:R674H;ENSP00000418442:R674H	.|ENSP00000353007:R674H	A|R	-|-	1|2	0|0	SULF2|SULF2	45726317|45726317	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.796000|0.796000	0.44982|0.44982	1.968000|1.968000	0.40500|0.40500	0.689000|0.689000	0.31550|0.31550	-0.254000|-0.254000	0.11334|0.11334	GCC|CGC	C|0.983;T|0.017	0.017	strong		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46292910	C	T	46292910	3	4	22	1	0	0	0	0	1	0	0	0	15370	768	27	1	619	1	SULF2	20	46292910	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24417	46292910	16732610	10546	15654										
PREX1	57580	hgsc.bcm.edu	37	chr20	47261017	47261017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtaggacaggaccgagtcTcgattgctgttacactcgct	12	10	1	0	rs6066802	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47261017T>C	ENST00000371941.3	-	27	3553	c.3531A>G	c.(3529-3531)cgA>cgG	p.R1177R	PREX1_ENST00000396220.1_Silent_p.R1177R|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1177R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGACCGAGTCTCGATTGCTGT	0.592													C|||	1605	0.320487	0.2118	0.3559	5008	,	,		17511	0.369		0.2624	False		,,,				2504	0.4519				p.R1177R		Atlas-SNP	.											PREX1,NS,carcinoma,0,1	PREX1	441	1	1	Substitution - coding silent(1)	stomach(1)	c.A3531G						PASS	.	C		973,3433	733.1+/-410.4	100,773,1330	95	76	82		3531	1.5	1	20	dbSNP_114	82	2242,6358	707.8+/-405.6	289,1664,2347	no	coding-synonymous	PREX1	NM_020820.3		389,2437,3677	CC,CT,TT		26.0698,22.0835,24.7194		1177/1660	47261017	3215,9791	2203	4300	6503	SO:0001819	synonymous_variant	57580	exon27			CGAGTCTCGATTG	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3531A>G	20.37:g.47261017T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																			T|0.728;C|0.272	0.272	strong		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47261017	T	C	47261017	2	2	22	1	0	0	0	0	0	0	0	1	12476	1538	54	3		3	PREX1	20	47261017	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	968107	47261017	15764503	10547	15655										
PREX1	57580	hgsc.bcm.edu	37	chr20	47274733	47274733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccttgttcttctcctcgaTgtcaaagccatagtcctcct	6	14	3	0	rs62621889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47274733T>C	ENST00000371941.3	-	17	1937	c.1915A>G	c.(1915-1917)Atc>Gtc	p.I639V	PREX1_ENST00000396220.1_Missense_Mutation_p.I639V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	639	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTCCTCGATGTCAAAGCCA	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	51	0.0101837	0.0378	0.0014	5008	,	,		19323	0.0		0.0	False		,,,				2504	0.0				p.I639V		Atlas-SNP	.											.	PREX1	441	.	0			c.A1915G						PASS	.	T	VAL/ILE	146,4260	102.5+/-141.1	1,144,2058	285	256	266		1915	3.9	1	20	dbSNP_129	266	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PREX1	NM_020820.3	29	1,145,6357	CC,CT,TT		0.0116,3.3137,1.1302	benign	639/1660	47274733	147,12859	2203	4300	6503	SO:0001583	missense	57580	exon17			CCTCGATGTCAAA	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1915A>G	20.37:g.47274733T>C	ENSP00000361009:p.Ile639Val	Somatic	155	0	0	945	WXS	Illumina HiSeq	Phase_I	161	68	0.42236	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	15	0.006868131868131868	14	0.028455284552845527	1	0.0027624309392265192	0	0.0	0	0.0	T	12.08	1.832013	0.32421	0.033137	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.18016	2.24;2.24	4.98	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (3);	0.406056	0.19926	U	0.102980	T	0.02494	0.0076	N	0.08118	0	0.34912	D	0.747534	B	0.02656	0.0	B	0.04013	0.001	T	0.12656	-1.0539	10	0.56958	D	0.05	.	6.8339	0.23925	0.0:0.0776:0.2974:0.625	rs62621889	639	Q8TCU6	PREX1_HUMAN	V	639	ENSP00000361009:I639V;ENSP00000379522:I639V	ENSP00000361009:I639V	I	-	1	0	PREX1	46708140	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	3.185000	0.50934	0.714000	0.32081	0.533000	0.62120	ATC	T|0.989;C|0.011	0.011	strong		0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47274733	T	C	47274733	3	2	22	1	0	0	0	0	1	0	0	0	12476	1464	51	2	3160	2	PREX1	20	47274733	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13716	47274733	15750787	10548	15656										
PREX1	57580	hgsc.bcm.edu	37	chr20	47295906	47295906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagtaacttacttgatcacCggggtgtagaggctgtgaag	14	6	1	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47295906C>T	ENST00000371941.3	-	13	1603	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	PREX1_ENST00000396220.1_Silent_p.P527P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	527	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTTGATCACCGGGGTGTAGA	0.512																																					p.P527P		Atlas-SNP	.											.	PREX1	441	.	0			c.G1581A						PASS	.						117	112	114					20																	47295906		2203	4300	6503	SO:0001819	synonymous_variant	57580	exon13			GATCACCGGGGTG	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1581G>A	20.37:g.47295906C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																			.	.	none		0.512	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47295906	C	T	47295906	2	4	22	1	0	0	0	0	0	0	0	1	12476	639	23	1		1	PREX1	20	47295906	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21173	47295906	15729614	10549	15657										
ARFGEF2	10564	hgsc.bcm.edu	37	chr20	47588949	47588949	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggtcattcagactctgacGaggatctgtgcaggtatttc	11	8	4	2	rs116550473	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47588949G>A	ENST00000371917.4	+	11	1512	c.1512G>A	c.(1510-1512)acG>acA	p.T504T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	504					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACTCTGACGAGGATCTGTG	0.408													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		20979	0.0		0.0	False		,,,				2504	0.0				p.T504T	Esophageal Squamous(176;1738 1974 26285 33069 35354)	Atlas-SNP	.											.	ARFGEF2	160	.	0			c.G1512A						PASS	.	G		56,4350	56.2+/-92.4	0,56,2147	84	81	82		1512	-6.9	0.9	20	dbSNP_132	82	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,56,6447	AA,AG,GG		0.0,1.271,0.4306		504/1786	47588949	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	10564	exon11			TCTGACGAGGATC	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1512G>A	20.37:g.47588949G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_006420	Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																			G|0.996;A|0.004	0.004	strong		0.408	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47588949	G	A	47588949	2	1	22	1	0	0	0	0	0	0	0	1	853	1045	37	1		1	ARFGEF2	20	47588949	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	293043	47588949	15436571	10550	15658										
ARFGEF2	10564	hgsc.bcm.edu	37	chr20	47626847	47626847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggccaacatccgctcaggTtggaagaacatctttgccgt	11	12	2	1	rs2295580	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47626847T>C	ENST00000371917.4	+	27	3663	c.3663T>C	c.(3661-3663)ggT>ggC	p.G1221G		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1221					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCGCTCAGGTTGGAAGAACA	0.567													C|||	1774	0.354233	0.5976	0.2752	5008	,	,		21249	0.1905		0.3171	False		,,,				2504	0.2883				p.G1221G	Esophageal Squamous(176;1738 1974 26285 33069 35354)	Atlas-SNP	.											ARFGEF2,colon,carcinoma,0,1	ARFGEF2	160	1	0			c.T3663C						PASS	.	C		2283,2123	577.7+/-384.5	594,1095,514	139	109	119		3663	0.6	1	20	dbSNP_100	119	2970,5630	666.7+/-402.4	496,1978,1826	no	coding-synonymous	ARFGEF2	NM_006420.2		1090,3073,2340	CC,CT,TT		34.5349,48.1843,40.3891		1221/1786	47626847	5253,7753	2203	4300	6503	SO:0001819	synonymous_variant	10564	exon27			CTCAGGTTGGAAG	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3663T>C	20.37:g.47626847T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	100	100	1	NM_006420	Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																			A|0.003;C|0.372;G|0.003;T|0.622	0.372	strong		0.567	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		C	47626847	T	C	47626847	2	2	22	1	0	0	0	0	0	0	0	1	853	1712	60	2		2	ARFGEF2	20	47626847	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37898	47626847	15398673	10551	15659										
DDX27	55661	hgsc.bcm.edu	37	chr20	47838020	47838020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgggcagacgacaaaaagCtttggggaagaaccgcagtg	15	8	0	2	rs114928867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47838020C>T	ENST00000371764.4	+	2	227	c.218C>T	c.(217-219)gCt>gTt	p.A73V	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	73	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGACAAAAAGCTTTGGGGAAG	0.522													C|||	14	0.00279553	0.0106	0.0	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.0				p.A73V		Atlas-SNP	.											.	DDX27	74	.	0			c.C218T						PASS	.	C	VAL/ALA	47,4359	50.2+/-85.5	0,47,2156	83	72	76		218	5.2	1	20	dbSNP_132	76	0,8600		0,0,4300	yes	missense	DDX27	NM_017895.7	64	0,47,6456	TT,TC,CC		0.0,1.0667,0.3614	benign	73/797	47838020	47,12959	2203	4300	6503	SO:0001583	missense	55661	exon2			AAAAAGCTTTGGG	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.218C>T	20.37:g.47838020C>T	ENSP00000360828:p.Ala73Val	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	126	59	0.468254	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	13.11	2.138594	0.37728	0.010667	0.0	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01474	4.85	5.16	5.16	0.70880	.	0.553075	0.18353	N	0.143813	T	0.01156	0.0038	N	0.22421	0.69	0.37063	D	0.89816	B	0.24823	0.112	B	0.19148	0.024	T	0.60459	-0.7259	10	0.30078	T	0.28	-17.0082	11.1111	0.48232	0.1841:0.8159:0.0:0.0	.	73	Q96GQ7	DDX27_HUMAN	V	73	ENSP00000360828:A73V	ENSP00000360828:A73V	A	+	2	0	DDX27	47271427	0.984000	0.35163	1.000000	0.80357	0.550000	0.35303	1.360000	0.34125	2.698000	0.92095	0.561000	0.74099	GCT	C|0.997;T|0.003	0.003	strong		0.522	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			T	47838020	C	T	47838020	3	4	22	1	0	0	0	0	1	0	0	0	4354	797	28	2	224	2	DDX27	20	47838020	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	211173	47838020	15187500	10552	15660										
DDX27	55661	hgsc.bcm.edu	37	chr20	47841660	47841660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctggtgtaggaagcaggagGattttttgaagatgcatctc	13	5	2	2	rs11553387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47841660G>T	ENST00000371764.4	+	6	626	c.617G>T	c.(616-618)gGa>gTa	p.G206V	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	206						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGCAGGAGGATTTTTTGAA	0.423													G|||	695	0.138778	0.1959	0.1729	5008	,	,		21632	0.0427		0.2008	False		,,,				2504	0.0726				p.G206V		Atlas-SNP	.											.	DDX27	74	.	0			c.G617T						PASS	.	G	VAL/GLY	826,3580	328.5+/-300.6	78,670,1455	116	118	117		617	5.2	1	20	dbSNP_120	117	1918,6682	340.3+/-323.5	200,1518,2582	yes	missense	DDX27	NM_017895.7	109	278,2188,4037	TT,TG,GG		22.3023,18.7472,21.098	benign	206/797	47841660	2744,10262	2203	4300	6503	SO:0001583	missense	55661	exon6			CAGGAGGATTTTT	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.617G>T	20.37:g.47841660G>T	ENSP00000360828:p.Gly206Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	210	94	0.447619	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	341	0.15613553113553114	95	0.19308943089430894	66	0.18232044198895028	28	0.04895104895104895	152	0.20052770448548812	G	11.72	1.721409	0.30503	0.187472	0.223023	ENSG00000124228	ENST00000371764	T	0.01484	4.84	5.2	5.2	0.72013	.	0.222295	0.44097	D	0.000490	T	0.00012	0.0000	L	0.40543	1.245	0.09310	P	0.9999999000127	B	0.20780	0.048	B	0.15052	0.012	T	0.61946	-0.6958	9	0.33141	T	0.24	-18.4289	17.0527	0.86524	0.0:0.0:1.0:0.0	rs11553387;rs11908296;rs52798552;rs56813891;rs11908296	206	Q96GQ7	DDX27_HUMAN	V	206	ENSP00000360828:G206V	ENSP00000360828:G206V	G	+	2	0	DDX27	47275067	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	3.430000	0.52807	2.814000	0.96858	0.655000	0.94253	GGA	A|0.001;C|0.006;G|0.814;T|0.179	0.179	strong		0.423	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			T	47841660	G	T	47841660	3	4	22	1	0	0	0	0	1	0	0	0	4354	1174	41	4	639	4	DDX27	20	47841660	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3640	47841660	15183860	10553	15661										
DDX27	55661	hgsc.bcm.edu	37	chr20	47849904	47849904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgaatgtgttcccaccacCgccagaccatgctcttctcg	7	17	2	1	rs145681733		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47849904C>T	ENST00000371764.4	+	10	1195	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	396	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCCACCACCGCCAGACCAT	0.582																																					p.R396C		Atlas-SNP	.											.	DDX27	74	.	0			c.C1186T						PASS	.	C	CYS/ARG	0,4406		0,0,2203	87	69	75		1186	6	1	20	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX27	NM_017895.7	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	396/797	47849904	1,13005	2203	4300	6503	SO:0001583	missense	55661	exon10			CACCACCGCCAGA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1186C>T	20.37:g.47849904C>T	ENSP00000360828:p.Arg396Cys	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	83	34	0.409639	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700821	0.88924	0.0	1.16E-4	ENSG00000124228	ENST00000371764	T	0.49432	0.78	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74234	-0.3731	10	0.87932	D	0	-14.1308	17.9218	0.88969	0.0:1.0:0.0:0.0	.	396	Q96GQ7	DDX27_HUMAN	C	396	ENSP00000360828:R396C	ENSP00000360828:R396C	R	+	1	0	DDX27	47283311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.548000	0.53670	2.837000	0.97791	0.655000	0.94253	CGC	C|1.000;T|0.000	0.000	weak		0.582	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			T	47849904	C	T	47849904	3	4	22	1	0	0	0	0	1	0	0	0	4354	652	23	1	1224	1	DDX27	20	47849904	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8244	47849904	15175616	10554	15662										
DDX27	55661	hgsc.bcm.edu	37	chr20	47858695	47858695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcgaagaggaatcgcagaGccaagcgggcccgagcaatg	15	10	0	2	rs143843778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47858695G>A	ENST00000371764.4	+	18	2170	c.2161G>A	c.(2161-2163)Gcc>Acc	p.A721T	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	721						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATCGCAGAGCCAAGCGGGC	0.567													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		17319	0.0		0.0	False		,,,				2504	0.0				p.A721T		Atlas-SNP	.											.	DDX27	74	.	0			c.G2161A						PASS	.	G	THR/ALA	54,4352	54.9+/-90.9	0,54,2149	48	45	46		2161	1.7	1	20	dbSNP_134	46	0,8600		0,0,4300	yes	missense	DDX27	NM_017895.7	58	0,54,6449	AA,AG,GG		0.0,1.2256,0.4152	benign	721/797	47858695	54,12952	2203	4300	6503	SO:0001583	missense	55661	exon18			CGCAGAGCCAAGC	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2161G>A	20.37:g.47858695G>A	ENSP00000360828:p.Ala721Thr	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	133	56	0.421053	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	12.62	1.992729	0.35131	0.012256	0.0	ENSG00000124228	ENST00000371764	T	0.01438	4.89	5.83	1.74	0.24563	.	0.354569	0.32473	N	0.006059	T	0.00695	0.0023	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58222	-0.7674	10	0.17369	T	0.5	-2.8822	4.7211	0.12918	0.3373:0.1498:0.513:0.0	.	721	Q96GQ7	DDX27_HUMAN	T	721	ENSP00000360828:A721T	ENSP00000360828:A721T	A	+	1	0	DDX27	47292102	0.998000	0.40836	0.996000	0.52242	0.995000	0.86356	0.954000	0.29175	0.098000	0.17522	0.561000	0.74099	GCC	G|0.996;A|0.004	0.004	strong		0.567	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			A	47858695	G	A	47858695	3	1	22	1	0	0	0	0	1	0	0	0	4354	971	34	2	2231	2	DDX27	20	47858695	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8791	47858695	15166825	10555	15663										
ZNFX1	57169	hgsc.bcm.edu	37	chr20	47865784	47865784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctggcagcagagccggagCatggggcctatttgattgtt	14	8	1	2	rs6512577	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47865784C>T	ENST00000396105.1	-	14	4023	c.3777G>A	c.(3775-3777)atG>atA	p.M1259I	ZNFX1_ENST00000371752.1_Missense_Mutation_p.M1259I|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1259			M -> I (in dbSNP:rs6512577).				metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAGCCGGAGCATGGGGCCTA	0.532													C|||	671	0.133986	0.1778	0.1686	5008	,	,		20164	0.0427		0.2018	False		,,,				2504	0.0746				p.M1259I		Atlas-SNP	.											.	ZNFX1	194	.	0			c.G3777A						PASS	.	C	ILE/MET	753,3653	308.8+/-290.8	62,629,1512	71	71	71		3777	-12.3	0	20	dbSNP_116	71	1926,6674	340.3+/-323.5	203,1520,2577	yes	missense	ZNFX1	NM_021035.2	10	265,2149,4089	TT,TC,CC		22.3953,17.0903,20.5982	benign	1259/1919	47865784	2679,10327	2203	4300	6503	SO:0001583	missense	57169	exon14			CCGGAGCATGGGG	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3777G>A	20.37:g.47865784C>T	ENSP00000379412:p.Met1259Ile	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	225	106	0.471111	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	335	0.1533882783882784	91	0.18495934959349594	64	0.17679558011049723	28	0.04895104895104895	152	0.20052770448548812	C	1.356	-0.590167	0.03799	0.170903	0.223953	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.86030	-2.06;-2.06	6.17	-12.3	0.00002	.	0.790063	0.12288	N	0.482275	T	0.00039	0.0001	N	0.02539	-0.55	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.13495	-1.0507	9	0.22706	T	0.39	-0.0137	7.3514	0.26693	0.0641:0.3567:0.3897:0.1895	rs6512577;rs17778787;rs52817512;rs57225169;rs6512577	1259	Q9P2E3	ZNFX1_HUMAN	I	1259	ENSP00000360817:M1259I;ENSP00000379412:M1259I	ENSP00000360817:M1259I	M	-	3	0	ZNFX1	47299191	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-2.653000	0.00856	-3.493000	0.00153	-0.150000	0.13652	ATG	C|0.824;T|0.176	0.176	strong		0.532	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		T	47865784	C	T	47865784	3	4	22	1	0	0	0	0	1	0	0	0	18202	710	25	2	1983	2	ZNFX1	20	47865784	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7089	47865784	15159736	10556	15664										
ZNFX1	57169	hgsc.bcm.edu	37	chr20	47874005	47874005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgtcccagtgccacaAtggtctagcctcatggccag	11	14	2	0	rs3021	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:47874005A>G	ENST00000396105.1	-	8	2859	c.2613T>C	c.(2611-2613)caT>caC	p.H871H	ZNFX1_ENST00000371752.1_Silent_p.H871H|ZNFX1_ENST00000371754.4_Silent_p.H871H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	871							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGTGCCACAATGGTCTAGCC	0.567													A|||	691	0.137979	0.1921	0.17	5008	,	,		18090	0.0427		0.2018	False		,,,				2504	0.0746				p.H871H		Atlas-SNP	.											.	ZNFX1	194	.	0			c.T2613C						PASS	.	A		782,3624	316.9+/-294.8	64,654,1485	134	120	125		2613	-1.1	0	20	dbSNP_36	125	1928,6672	341.6+/-324.1	202,1524,2574	no	coding-synonymous	ZNFX1	NM_021035.2		266,2178,4059	GG,GA,AA		22.4186,17.7485,20.8365		871/1919	47874005	2710,10296	2203	4300	6503	SO:0001819	synonymous_variant	57169	exon8			GCCACAATGGTCT	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2613T>C	20.37:g.47874005A>G		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	177	79	0.446328	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																			A|0.821;G|0.179;T|0.000	0.179	strong		0.567	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		G	47874005	A	G	47874005	2	3	22	1	0	0	0	0	0	0	0	1	18202	98	4	2		2	ZNFX1	20	47874005	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8221	47874005	15151515	10557	15665										
PTGIS	5740	hgsc.bcm.edu	37	chr20	48140682	48140682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgcagcaggtaactctcCagccatttgctccggtgggc	13	12	1	0	rs5628	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48140682C>T	ENST00000244043.4	-	6	797	c.768G>A	c.(766-768)ctG>ctA	p.L256L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	256					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.L256L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GGTAACTCTCCAGCCATTTGC	0.627													C|||	620	0.123802	0.2027	0.121	5008	,	,		19573	0.1002		0.0646	False		,,,				2504	0.1043				p.L256L		Atlas-SNP	.											PTGIS,NS,carcinoma,0,1	PTGIS	60	1	1	Substitution - coding silent(1)	stomach(1)	c.G768A						PASS	.	C		679,3727	286.0+/-278.5	48,583,1572	127	105	113		768	4.3	1	20	dbSNP_52	113	525,8075	147.4+/-202.8	11,503,3786	no	coding-synonymous	PTGIS	NM_000961.3		59,1086,5358	TT,TC,CC		6.1047,15.4108,9.2573		256/501	48140682	1204,11802	2203	4300	6503	SO:0001819	synonymous_variant	5740	exon6			ACTCTCCAGCCAT		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.768G>A	20.37:g.48140682C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	208	108	0.519231	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	CCDS13419.1																																																																																			C|0.897;T|0.103	0.103	strong		0.627	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			T	48140682	C	T	48140682	2	4	22	1	0	0	0	0	0	0	0	1	12752	581	21	2		2	PTGIS	20	48140682	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	266677	48140682	14884838	10558	15666										
SLC9A8	23315	hgsc.bcm.edu	37	chr20	48472098	48472098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagtattctcaacgatgcAgtctccattgttctgaccaa	7	10	3	1	rs35137210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48472098A>G	ENST00000361573.2	+	8	735	c.693A>G	c.(691-693)gcA>gcG	p.A231A	SLC9A8_ENST00000539601.1_Silent_p.A12A|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Silent_p.A247A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	231					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCAACGATGCAGTCTCCATTG	0.463													A|||	18	0.00359425	0.0136	0.0	5008	,	,		22384	0.0		0.0	False		,,,				2504	0.0				p.A247A		Atlas-SNP	.											.	SLC9A8	63	.	0			c.A741G						PASS	.	A		60,4346	56.2+/-92.4	0,60,2143	107	92	97		693	-10.5	0	20	dbSNP_126	97	0,8600		0,0,4300	no	coding-synonymous	SLC9A8	NM_015266.1		0,60,6443	GG,GA,AA		0.0,1.3618,0.4613		231/582	48472098	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	23315	exon8			CGATGCAGTCTCC	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.693A>G	20.37:g.48472098A>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	161	85	0.52795	NM_001260491	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																			A|0.994;G|0.006	0.006	strong		0.463	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		G	48472098	A	G	48472098	2	3	22	1	0	0	0	0	0	0	0	1	14720	175	7	3		3	SLC9A8	20	48472098	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	331416	48472098	14553422	10559	15667										
SPATA2	9825	hgsc.bcm.edu	37	chr20	48522263	48522263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggggtcataatggtaagCgctgaggcaggcgtcacatg	16	8	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48522263C>T	ENST00000422556.1	-	3	1805	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	SPATA2_ENST00000289431.5_Missense_Mutation_p.A486T|SPATA2_ENST00000543716.1_Missense_Mutation_p.A349T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	486					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAATGGTAAGCGCTGAGGCAG	0.562																																					p.A486T		Atlas-SNP	.											.	SPATA2	36	.	0			c.G1456A						PASS	.						167	154	159					20																	48522263		2203	4300	6503	SO:0001583	missense	9825	exon3			GGTAAGCGCTGAG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1456G>A	20.37:g.48522263C>T	ENSP00000416799:p.Ala486Thr	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	371	188	0.506739	NM_006038	E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721788	0.48728	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.48201	0.83;0.83;0.82	5.08	0.988	0.19796	.	0.293281	0.28198	N	0.016236	T	0.40570	0.1122	L	0.59436	1.845	0.36765	D	0.883515	B	0.18968	0.032	B	0.14023	0.01	T	0.36601	-0.9741	10	0.42905	T	0.14	-10.862	10.0211	0.42044	0.0:0.7242:0.0:0.2758	.	486	Q9UM82	SPAT2_HUMAN	T	486;486;349	ENSP00000289431:A486T;ENSP00000416799:A486T;ENSP00000438855:A349T	ENSP00000289431:A486T	A	-	1	0	SPATA2	47955670	1.000000	0.71417	0.974000	0.42286	0.448000	0.32197	2.904000	0.48719	0.057000	0.16193	0.455000	0.32223	GCT	.	.	none		0.562	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		T	48522263	C	T	48522263	3	4	22	1	0	0	0	0	1	0	0	0	15004	768	27	1	110	1	SPATA2	20	48522263	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50165	48522263	14503257	10560	15668										
SNAI1	6615	hgsc.bcm.edu	37	chr20	48600475	48600475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctgggactctgtcctggCgccccaagcccagccaattg	10	16	2	0	rs34261470	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48600475C>T	ENST00000244050.2	+	2	258	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	66			A -> V (in dbSNP:rs34261470).		cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCTGTCCTGGCGCCCCAAGCC	0.657													C|||	140	0.0279553	0.093	0.0101	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0102				p.A66V		Atlas-SNP	.											.	SNAI1	28	.	0			c.C197T						PASS	.	C	VAL/ALA	321,4085	168.3+/-199.2	18,285,1900	45	50	48		197	1.8	0.9	20	dbSNP_126	48	7,8593	5.7+/-21.5	0,7,4293	no	missense	SNAI1	NM_005985.3	64	18,292,6193	TT,TC,CC		0.0814,7.2855,2.5219	benign	66/265	48600475	328,12678	2203	4300	6503	SO:0001583	missense	6615	exon2			TCCTGGCGCCCCA	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.197C>T	20.37:g.48600475C>T	ENSP00000244050:p.Ala66Val	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	50	19	0.38	NM_005985	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	38	0.0173992673992674	32	0.06504065040650407	6	0.016574585635359115	0	0.0	0	0.0	C	12.23	1.875633	0.33162	0.072855	8.14E-4	ENSG00000124216	ENST00000244050	T	0.20332	2.08	4.94	1.81	0.25067	.	1.159810	0.06133	N	0.670998	T	0.01061	0.0035	L	0.33485	1.01	0.23704	N	0.997068	B	0.11235	0.004	B	0.04013	0.001	T	0.32134	-0.9918	10	0.13853	T	0.58	-4.3384	7.28	0.26306	0.0:0.6314:0.0:0.3686	rs34261470	66	O95863	SNAI1_HUMAN	V	66	ENSP00000244050:A66V	ENSP00000244050:A66V	A	+	2	0	SNAI1	48033882	0.003000	0.15002	0.936000	0.37596	0.943000	0.58893	1.315000	0.33608	0.429000	0.26202	0.557000	0.71058	GCG	C|0.979;T|0.021	0.021	strong		0.657	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			T	48600475	C	T	48600475	3	4	22	1	0	0	0	0	1	0	0	0	14826	768	27	1	203	1	SNAI1	20	48600475	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	78212	48600475	14425045	10561	15669										
SNAI1	6615	hgsc.bcm.edu	37	chr20	48600557	48600557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgacctccctgtcagaTgaggacagtgggaaaggctc	14	10	1	3	rs4647959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48600557T>C	ENST00000244050.2	+	2	340	c.279T>C	c.(277-279)gaT>gaC	p.D93D		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	93	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCCTGTCAGATGAGGACAGTG	0.642													C|||	1466	0.292732	0.7171	0.232	5008	,	,		15499	0.0913		0.1262	False		,,,				2504	0.1411				p.D93D		Atlas-SNP	.											.	SNAI1	28	.	0			c.T279C						PASS	.	C		2735,1671	501.0+/-364.9	874,987,342	47	57	53		279	-7.4	0.6	20	dbSNP_111	53	1059,7541	760.8+/-407.6	65,929,3306	no	coding-synonymous	SNAI1	NM_005985.3		939,1916,3648	CC,CT,TT		12.314,37.9256,29.1712		93/265	48600557	3794,9212	2203	4300	6503	SO:0001819	synonymous_variant	6615	exon2			GTCAGATGAGGAC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.279T>C	20.37:g.48600557T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	62	62	1	NM_005985	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	ENST00000244050.2	37	CCDS13423.1																																																																																			T|0.712;C|0.288	0.288	strong		0.642	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			C	48600557	T	C	48600557	2	2	22	1	0	0	0	0	0	0	0	1	14826	1461	51	2		2	SNAI1	20	48600557	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	82	48600557	14424963	10562	15670										
SNAI1	6615	hgsc.bcm.edu	37	chr20	48600631	48600631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtccttctcctctacttcagTctcttccttggaggccgagg	9	14	4	0	rs4647958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48600631T>C	ENST00000244050.2	+	2	414	c.353T>C	c.(352-354)gTc>gCc	p.V118A		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	118	Ser-rich.		V -> A (in dbSNP:rs4647958). {ECO:0000269|PubMed:11245431}.		cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCTACTTCAGTCTCTTCCTTG	0.632													C|||	1466	0.292732	0.7171	0.232	5008	,	,		16710	0.0913		0.1262	False		,,,				2504	0.1411				p.V118A		Atlas-SNP	.											.	SNAI1	28	.	0			c.T353C						PASS	.	C	ALA/VAL	2737,1669	504.2+/-365.8	873,991,339	54	63	60		353	1.6	0.3	20	dbSNP_111	60	1057,7543	765.5+/-407.6	65,927,3308	yes	missense	SNAI1	NM_005985.3	64	938,1918,3647	CC,CT,TT		12.2907,37.8802,29.1712	benign	118/265	48600631	3794,9212	2203	4300	6503	SO:0001583	missense	6615	exon2			CTTCAGTCTCTTC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.353T>C	20.37:g.48600631T>C	ENSP00000244050:p.Val118Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_005985	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	577	0.2641941391941392	346	0.7032520325203252	86	0.23756906077348067	54	0.0944055944055944	91	0.12005277044854881	C	4.606	0.112656	0.08831	0.621198	0.122907	ENSG00000124216	ENST00000244050	T	0.19532	2.14	4.62	1.56	0.23342	.	0.487743	0.23079	N	0.052178	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	9	0.07644	T	0.81	-10.9503	8.8673	0.35294	0.0:0.6126:0.0:0.3874	rs4647958;rs52828116;rs58528306;rs4647958	118	O95863	SNAI1_HUMAN	A	118	ENSP00000244050:V118A	ENSP00000244050:V118A	V	+	2	0	SNAI1	48034038	0.000000	0.05858	0.256000	0.24389	0.937000	0.57800	-0.026000	0.12392	0.158000	0.19367	-0.226000	0.12346	GTC	T|0.722;C|0.278	0.278	strong		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			C	48600631	T	C	48600631	3	2	22	1	0	0	0	0	1	0	0	0	14826	1667	58	2	359	2	SNAI1	20	48600631	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	74	48600631	14424889	10563	15671										
SNAI1	6615	hgsc.bcm.edu	37	chr20	48600809	48600809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcacatccgaagccacacGctgccctgcgtctgcggaac	10	16	1	0	rs1063210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:48600809G>A	ENST00000244050.2	+	2	592	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	177	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAAGCCACACGCTGCCCTGCG	0.612													G|||	1466	0.292732	0.7171	0.232	5008	,	,		19108	0.0913		0.1262	False		,,,				2504	0.1411				p.T177T		Atlas-SNP	.											.	SNAI1	28	.	0			c.G531A						PASS	.	G		2738,1668	643.3+/-397.8	874,990,339	33	32	32		531	-9	0.7	20	dbSNP_86	32	1060,7540	218.7+/-257.0	65,930,3305	no	coding-synonymous	SNAI1	NM_005985.3		939,1920,3644	AA,AG,GG		12.3256,37.8575,29.2019		177/265	48600809	3798,9208	2203	4300	6503	SO:0001819	synonymous_variant	6615	exon2			CCACACGCTGCCC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.531G>A	20.37:g.48600809G>A		Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	183	182	0.994536	NM_005985	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	ENST00000244050.2	37	CCDS13423.1																																																																																			G|0.726;A|0.274	0.274	strong		0.612	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			A	48600809	G	A	48600809	2	1	22	1	0	0	0	0	0	0	0	1	14826	1074	38	1		1	SNAI1	20	48600809	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	178	48600809	14424711	10564	15672										
PTPN1	5770	hgsc.bcm.edu	37	chr20	49191191	49191191	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagaattggaaaaccttacAgtgagtatagcacacacttc	7	9	0	2	rs35414863	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:49191191A>G	ENST00000371621.3	+	5	666	c.492A>G	c.(490-492)acA>acG	p.T164T	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Splice_Site_p.T91T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	164	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	aAAACCTTACAGTGAGTATAG	0.398													A|||	113	0.0225639	0.0772	0.0144	5008	,	,		21947	0.0		0.001	False		,,,				2504	0.0				p.T164T		Atlas-SNP	.											.	PTPN1	36	.	0			c.A492G						PASS	.	A		344,4062	179.7+/-208.2	11,322,1870	117	116	117		492	-10.3	0	20	dbSNP_126	117	19,8581	13.3+/-46.6	0,19,4281	yes	coding-synonymous-near-splice	PTPN1	NM_002827.2		11,341,6151	GG,GA,AA		0.2209,7.8075,2.791		164/436	49191191	363,12643	2203	4300	6503	SO:0001630	splice_region_variant	5770	exon5			CCTTACAGTGAGT		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.492+1A>G	20.37:g.49191191A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_002827	Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	CCDS13430.1																																																																																			A|0.976;G|0.024	0.024	strong		0.398	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		Silent	G	49191191	A	G	49191191	5	3	22	1	0	0	0	0	0	0	1	0	12779	202	7	3	510	3	PTPN1	20	49191191	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	590382	49191191	13834329	10565	15673										
PTPN1	5770	hgsc.bcm.edu	37	chr20	49197955	49197955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccttcctggtcaacatgtgCgtggctacggtcctcacggc	11	15	2	0	rs74607837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:49197955C>T	ENST00000371621.3	+	9	1416	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	PTPN1_ENST00000541713.1_Silent_p.C341C	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	414					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TCAACATGTGCGTGGCTACGG	0.627													C|||	81	0.0161741	0.059	0.0043	5008	,	,		18745	0.0		0.0	False		,,,				2504	0.0				p.C414C		Atlas-SNP	.											.	PTPN1	36	.	0			c.C1242T						PASS	.	C		223,4183	133.7+/-170.0	6,211,1986	110	74	86		1242	0.4	0.8	20	dbSNP_132	86	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	PTPN1	NM_002827.2		6,215,6282	TT,TC,CC		0.0465,5.0613,1.7453		414/436	49197955	227,12779	2203	4300	6503	SO:0001819	synonymous_variant	5770	exon9			CATGTGCGTGGCT		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1242C>T	20.37:g.49197955C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	162	81	0.5	NM_002827	Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	CCDS13430.1																																																																																			C|0.980;T|0.020	0.020	strong		0.627	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			T	49197955	C	T	49197955	2	4	22	1	0	0	0	0	0	0	0	1	12779	776	27	1		1	PTPN1	20	49197955	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6764	49197955	13827565	10566	15674										
FAM65C	140876	hgsc.bcm.edu	37	chr20	49214156	49214156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaacagggacagctcatccAgggcgaagtcggcattgagg	14	10	1	1	rs6020624	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:49214156A>G	ENST00000327979.2	-	14	2150	c.1739T>C	c.(1738-1740)cTg>cCg	p.L580P	FAM65C_ENST00000045083.2_Missense_Mutation_p.L580P|FAM65C_ENST00000535356.1_Missense_Mutation_p.L584P			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	580			L -> P (in dbSNP:rs6020624). {ECO:0000269|PubMed:14702039}.							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						CAGCTCATCCAGGGCGAAGTC	0.657													G|||	3497	0.698283	0.7337	0.6758	5008	,	,		15441	0.7034		0.7058	False		,,,				2504	0.6534				p.L580P		Atlas-SNP	.											.	FAM65C	87	.	0			c.T1739C						PASS	.	G	PRO/LEU	3234,1172	394.9+/-329.4	1205,824,174	63	53	56		1739	1.1	0	20	dbSNP_114	56	6081,2519	395.7+/-345.2	2140,1801,359	yes	missense	FAM65C	NM_080829.2	98	3345,2625,533	GG,GA,AA		29.2907,26.6001,28.3792	benign	580/947	49214156	9315,3691	2203	4300	6503	SO:0001583	missense	140876	exon14			TCATCCAGGGCGA	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.1739T>C	20.37:g.49214156A>G	ENSP00000332663:p.Leu580Pro	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	137	136	0.992701	NM_080829	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	1541	0.7055860805860806	370	0.7520325203252033	239	0.6602209944751382	406	0.7097902097902098	526	0.6939313984168866	G	0.642	-0.813151	0.02798	0.733999	0.707093	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.13657	2.58;2.58;2.57	4.6	1.11	0.20524	.	0.737333	0.12258	N	0.485006	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12116	-1.0560	9	0.39692	T	0.17	-3.9663	4.9545	0.14033	0.0812:0.2788:0.5047:0.1352	rs6020624;rs8121333;rs17197759;rs57799996;rs6020624	584;580	F5H0X2;Q96MK2	.;FA65C_HUMAN	P	580;580;584	ENSP00000332663:L580P;ENSP00000045083:L580P;ENSP00000439802:L584P	ENSP00000045083:L580P	L	-	2	0	FAM65C	48647563	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.921000	0.40035	0.101000	0.17610	-0.215000	0.12644	CTG	A|0.279;G|0.721	0.721	strong		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			G	49214156	A	G	49214156	3	3	22	1	0	0	0	0	1	0	0	0	5601	188	7	3	1137	3	FAM65C	20	49214156	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16201	49214156	13811364	10567	15675										
ATP9A	10079	hgsc.bcm.edu	37	chr20	50310559	50310559	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctactcacggcggccgtgggGagcctctgcgtgcaggccac	15	15	2	0	rs2031344	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50310559G>A	ENST00000338821.5	-	7	894	c.630C>T	c.(628-630)ctC>ctT	p.L210L	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	210					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGCCGTGGGGAGCCTCTGCG	0.627													G|||	70	0.0139776	0.0499	0.0043	5008	,	,		14542	0.0		0.001	False		,,,				2504	0.0				p.L210L		Atlas-SNP	.											.	ATP9A	135	.	0			c.C630T						PASS	.	G		171,4235	96.7+/-135.4	3,165,2035	42	45	44		630	-3	1	20	dbSNP_94	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP9A	NM_006045.1		3,166,6334	AA,AG,GG		0.0116,3.8811,1.3225		210/1048	50310559	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	10079	exon7			CGTGGGGAGCCTC	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.630C>T	20.37:g.50310559G>A		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	188	82	0.43617	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																			G|0.985;A|0.015	0.015	strong		0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		A	50310559	G	A	50310559	2	1	22	1	0	0	0	0	0	0	0	1	1198	1161	41	2		2	ATP9A	20	50310559	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1096403	50310559	12714961	10568	15676										
SALL4	57167	hgsc.bcm.edu	37	chr20	50406630	50406630	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcgggagactttgacttgaTgctttcggcttgactattgg	12	7	0	4	rs6091375	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50406630T>G	ENST00000217086.4	-	2	2503	c.2392A>C	c.(2392-2394)Atc>Ctc	p.I798L	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	798			I -> L (in dbSNP:rs6091375). {ECO:0000269|PubMed:12395297}.		embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGACTTGATGCTTTCGGCT	0.527													T|||	329	0.0656949	0.1619	0.049	5008	,	,		18816	0.0		0.0646	False		,,,				2504	0.0164				p.I798L		Atlas-SNP	.											.	SALL4	168	.	0			c.A2392C						PASS	.	T	LEU/ILE	696,3710	294.1+/-283.0	54,588,1561	81	78	79		2392	-5.1	0.2	20	dbSNP_114	79	498,8102	142.2+/-198.4	14,470,3816	yes	missense	SALL4	NM_020436.3	5	68,1058,5377	GG,GT,TT		5.7907,15.7966,9.1804	benign	798/1054	50406630	1194,11812	2203	4300	6503	SO:0001583	missense	57167	exon2			ACTTGATGCTTTC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2392A>C	20.37:g.50406630T>G	ENSP00000217086:p.Ile798Leu	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	324	157	0.484568	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	159	0.07280219780219781	88	0.17886178861788618	22	0.06077348066298342	0	0.0	49	0.06464379947229551	T	4.686	0.127462	0.08981	0.157966	0.057907	ENSG00000101115	ENST00000217086	T	0.07800	3.16	5.67	-5.11	0.02901	.	0.990681	0.08190	N	0.984093	T	0.00012	0.0000	L	0.38175	1.15	0.20764	P	0.99985162	B	0.06786	0.001	B	0.06405	0.002	T	0.48258	-0.9051	9	0.10902	T	0.67	-18.3976	9.814	0.40840	0.0984:0.488:0.0:0.4137	rs6091375;rs52814636;rs56500327;rs6091375	798	Q9UJQ4	SALL4_HUMAN	L	798	ENSP00000217086:I798L	ENSP00000217086:I798L	I	-	1	0	SALL4	49840037	0.000000	0.05858	0.196000	0.23383	0.847000	0.48162	-1.163000	0.03138	-1.412000	0.02030	-0.408000	0.06270	ATC	T|0.917;G|0.083	0.083	strong		0.527	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			G	50406630	T	G	50406630	3	3	22	1	0	0	0	0	1	0	0	0	13813	1464	51	5	781	5	SALL4	20	50406630	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	96071	50406630	12618890	10569	15677										
SALL4	57167	hgsc.bcm.edu	37	chr20	50406646	50406646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatgctttcggcttgactAttggccggggagagtgcctg	15	8	0	3	rs143601538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50406646A>G	ENST00000217086.4	-	2	2487	c.2376T>C	c.(2374-2376)aaT>aaC	p.N792N	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	792					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCTTGACTATTGGCCGGGG	0.547													A|||	4	0.000798722	0.003	0.0	5008	,	,		17547	0.0		0.0	False		,,,				2504	0.0				p.N792N		Atlas-SNP	.											.	SALL4	168	.	0			c.T2376C						PASS	.	A		11,4395	17.9+/-39.9	0,11,2192	79	73	75		2376	2.2	1	20	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	SALL4	NM_020436.3		0,11,6492	GG,GA,AA		0.0,0.2497,0.0846		792/1054	50406646	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			TTGACTATTGGCC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2376T>C	20.37:g.50406646A>G		Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	302	158	0.523179	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			A|0.999;G|0.001	0.001	strong		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			G	50406646	A	G	50406646	2	3	22	1	0	0	0	0	0	0	0	1	13813	446	16	2		2	SALL4	20	50406646	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	16	50406646	12618874	10570	15678										
SALL4	57167	hgsc.bcm.edu	37	chr20	50406892	50406892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtggatgctgggaagaggCgtggggaccttggaggagct	21	5	0	1	rs61737143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50406892C>T	ENST00000217086.4	-	2	2241	c.2130G>A	c.(2128-2130)acG>acA	p.T710T	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	710					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGAAGAGGCGTGGGGACCT	0.587													C|||	91	0.0181709	0.0643	0.0072	5008	,	,		18206	0.0		0.001	False		,,,				2504	0.0				p.T710T		Atlas-SNP	.											.	SALL4	168	.	0			c.G2130A						PASS	.	C		253,4153	143.5+/-178.5	11,231,1961	41	38	39		2130	-6	0	20	dbSNP_129	39	0,8600		0,0,4300	no	coding-synonymous	SALL4	NM_020436.3		11,231,6261	TT,TC,CC		0.0,5.7422,1.9453		710/1054	50406892	253,12753	2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			AAGAGGCGTGGGG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2130G>A	20.37:g.50406892C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	158	55	0.348101	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			C|0.982;T|0.018	0.018	strong		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50406892	C	T	50406892	2	4	22	1	0	0	0	0	0	0	0	1	13813	755	27	1		1	SALL4	20	50406892	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	246	50406892	12618628	10571	15679										
SALL4	57167	hgsc.bcm.edu	37	chr20	50407162	50407162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatgctgcgtcttaatggaTgtgttggttcggtgaacccc	13	8	1	1	rs6021437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50407162T>C	ENST00000217086.4	-	2	1971	c.1860A>G	c.(1858-1860)acA>acG	p.T620T	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	620					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTAATGGATGTGTTGGTTC	0.527													C|||	1913	0.381989	0.1982	0.3415	5008	,	,		20729	0.6071		0.336	False		,,,				2504	0.4744				p.T620T		Atlas-SNP	.											.	SALL4	168	.	0			c.A1860G						PASS	.	C		962,3444	731.0+/-410.2	105,752,1346	72	62	66		1860	-6.3	0	20	dbSNP_114	66	2967,5633	665.6+/-402.3	522,1923,1855	no	coding-synonymous	SALL4	NM_020436.3		627,2675,3201	CC,CT,TT		34.5,21.8339,30.2091		620/1054	50407162	3929,9077	2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			AATGGATGTGTTG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1860A>G	20.37:g.50407162T>C		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	213	97	0.455399	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			T|0.668;C|0.332	0.332	strong		0.527	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			C	50407162	T	C	50407162	2	2	22	1	0	0	0	0	0	0	0	1	13813	1451	51	2		2	SALL4	20	50407162	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	270	50407162	12618358	10572	15680										
SALL4	57167	hgsc.bcm.edu	37	chr20	50408614	50408614	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtcctctgagctgccgccAttctccctgtgacagtcctt	8	15	2	2	rs76870996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:50408614A>G	ENST00000217086.4	-	2	519	c.408T>C	c.(406-408)aaT>aaC	p.N136N	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.N136N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	136					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTGCCGCCATTCTCCCTGT	0.592													A|||	67	0.0133786	0.0469	0.0058	5008	,	,		16786	0.0		0.001	False		,,,				2504	0.0				p.N136N		Atlas-SNP	.											.	SALL4	168	.	0			c.T408C						PASS	.	A		172,4234	113.3+/-151.4	6,160,2037	128	134	132		408	-7.7	0	20	dbSNP_131	132	0,8600		0,0,4300	no	coding-synonymous	SALL4	NM_020436.3		6,160,6337	GG,GA,AA		0.0,3.9038,1.3225		136/1054	50408614	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			GCCGCCATTCTCC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.408T>C	20.37:g.50408614A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	117	49	0.418803	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			A|0.988;G|0.012	0.012	strong		0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			G	50408614	A	G	50408614	2	3	22	1	0	0	0	0	0	0	0	1	13813	214	8	2		2	SALL4	20	50408614	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1452	50408614	12616906	10573	15681										
TSHZ2	128553	hgsc.bcm.edu	37	chr20	51872038	51872038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctctgagcaatgggtgcGccctcgccaaccacgccccg	11	18	1	1	rs6097319	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:51872038G>A	ENST00000371497.5	+	2	2928	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A678T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A678T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	681			A -> T (in dbSNP:rs6097319).		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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAATGGGTGCGCCCTCGCCAA	0.637													G|||	308	0.0615016	0.2231	0.013	5008	,	,		16470	0.0		0.004	False		,,,				2504	0.0				p.A681T		Atlas-SNP	.											.	TSHZ2	209	.	0			c.G2041A						PASS	.	G	THR/ALA,THR/ALA	827,3579	325.6+/-299.2	98,631,1474	50	46	48		2032,2041	-1.2	0	20	dbSNP_114	48	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	58,58	98,637,5768	AA,AG,GG		0.0698,18.7699,6.4047	benign,benign	678/1032,681/1035	51872038	833,12173	2203	4300	6503	SO:0001583	missense	128553	exon2			GGGTGCGCCCTCG	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2041G>A	20.37:g.51872038G>A	ENSP00000360552:p.Ala681Thr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	48	28	0.583333	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	122	0.055860805860805864	118	0.23983739837398374	4	0.011049723756906077	0	0.0	0	0.0	G	2.194	-0.384541	0.04966	0.187699	6.98E-4	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37752	1.18;1.18	5.53	-1.21	0.09524	.	0.276183	0.39020	N	0.001485	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.29579	-1.0007	9	0.10111	T	0.7	1.382	2.2477	0.04035	0.3252:0.1119:0.4479:0.115	rs6097319;rs6097319	681	Q9NRE2	TSH2_HUMAN	T	681;678;207	ENSP00000360552:A681T;ENSP00000333114:A678T	ENSP00000333114:A678T	A	+	1	0	TSHZ2	51305445	0.046000	0.20272	0.000000	0.03702	0.029000	0.11900	0.728000	0.26013	-0.174000	0.10743	0.643000	0.83706	GCC	G|0.935;A|0.065	0.065	strong		0.637	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51872038	G	A	51872038	3	1	22	1	0	0	0	0	1	0	0	0	16621	1087	38	1	2047	1	TSHZ2	20	51872038	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1463424	51872038	11153482	10574	15682										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52192308	52192308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggactaccagcaggcacacAagtgtaaagtggcccggagc	13	11	0	0	rs61758384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:52192308A>C	ENST00000371471.2	-	4	3420	c.2995T>G	c.(2995-2997)Tgt>Ggt	p.C999G	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.C999G			O75362	ZN217_HUMAN	zinc finger protein 217	999					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCAGGCACACAAGTGTAAAGT	0.527													A|||	51	0.0101837	0.0356	0.0058	5008	,	,		21128	0.0		0.0	False		,,,				2504	0.0				p.C999G		Atlas-SNP	.											ZNF217,NS,carcinoma,+1,1	ZNF217	227	1	0			c.T2995G						PASS	.	A	GLY/CYS	187,4219	116.3+/-154.2	1,185,2017	61	58	59		2995	4.8	0	20	dbSNP_129	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF217	NM_006526.2	159	1,187,6315	CC,CA,AA		0.0233,4.2442,1.4532	possibly-damaging	999/1049	52192308	189,12817	2203	4300	6503	SO:0001583	missense	7764	exon3			GCACACAAGTGTA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2995T>G	20.37:g.52192308A>C	ENSP00000360526:p.Cys999Gly	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	40	17	0.425	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	A	16.16	3.044296	0.55110	0.042442	2.33E-4	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	.	0.463445	0.23003	N	0.053056	T	0.07773	0.0195	L	0.59436	1.845	0.19945	N	0.999949	D	0.71674	0.998	P	0.60682	0.878	T	0.01081	-1.1458	10	0.72032	D	0.01	-8.6365	12.5619	0.56286	1.0:0.0:0.0:0.0	rs61758384	999	O75362	ZN217_HUMAN	G	999;999;87;159	ENSP00000360526:C999G;ENSP00000304308:C999G	ENSP00000304308:C999G	C	-	1	0	ZNF217	51625715	0.948000	0.32251	0.008000	0.14137	0.003000	0.03518	5.216000	0.65246	1.791000	0.52520	0.528000	0.53228	TGT	A|0.985;C|0.015	0.015	strong		0.527	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		C	52192308	A	C	52192308	3	2	22	1	0	0	0	0	1	0	0	0	17769	130	5	5	159	5	ZNF217	20	52192308	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	320270	52192308	10833212	10575	15683										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52198619	52198619	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgtggagagtctgtctgCgcgctgctggtaccgaaagc	14	11	2	1	rs78786003	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:52198619C>A	ENST00000371471.2	-	2	1172	c.747G>T	c.(745-747)gcG>gcT	p.A249A	ZNF217_ENST00000302342.3_Silent_p.A249A|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	249					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTCTGTCTGCGCGCTGCTGG	0.488													C|||	50	0.00998403	0.0348	0.0058	5008	,	,		21092	0.0		0.0	False		,,,				2504	0.0				p.A249A		Atlas-SNP	.											.	ZNF217	227	.	0			c.G747T						PASS	.	C		187,4219	118.4+/-156.1	1,185,2017	101	98	99		747	-8	0	20	dbSNP_131	99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF217	NM_006526.2		1,187,6315	AA,AC,CC		0.0233,4.2442,1.4532		249/1049	52198619	189,12817	2203	4300	6503	SO:0001819	synonymous_variant	7764	exon1			TGTCTGCGCGCTG	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.747G>T	20.37:g.52198619C>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	111	52	0.468468	NM_006526	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																			C|0.985;A|0.015	0.015	strong		0.488	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		A	52198619	C	A	52198619	2	1	22	1	0	0	0	0	0	0	0	1	17769	755	27	4		4	ZNF217	20	52198619	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6311	52198619	10826901	10576	15684										
BCAS1	8537	hgsc.bcm.edu	37	chr20	52611552	52611552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacacttccaactacctaccGtgtcttctgggtcctttttt	5	14	2	0	rs60878965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:52611552G>A	ENST00000395961.3	-	6	1092	c.926C>T	c.(925-927)aCg>aTg	p.T309M	BCAS1_ENST00000371435.2_Splice_Site_p.T309M|BCAS1_ENST00000434986.2_Splice_Site_p.T22M|BCAS1_ENST00000371440.3_Splice_Site_p.T309M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACTACCTACCGTGTCTTCTGG	0.343													G|||	449	0.0896565	0.3245	0.0274	5008	,	,		16173	0.0		0.001	False		,,,				2504	0.0				p.T309M		Atlas-SNP	.											.	BCAS1	77	.	0			c.C926T						PASS	.	G	MET/THR	1210,3196	421.1+/-339.2	174,862,1167	185	200	195		926	2.5	1	20	dbSNP_129	195	11,8589	8.4+/-32.0	0,11,4289	yes	missense-near-splice	BCAS1	NM_003657.2	81	174,873,5456	AA,AG,GG		0.1279,27.4626,9.388	possibly-damaging	309/585	52611552	1221,11785	2203	4300	6503	SO:0001630	splice_region_variant	8537	exon6			CCTACCGTGTCTT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.927+1C>T	20.37:g.52611552G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	63	24	0.380952	NM_003657	A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	163|163	0.07463369963369963|0.07463369963369963	155|155	0.3150406504065041|0.3150406504065041	8|8	0.022099447513812154|0.022099447513812154	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.69|16.69	3.194122|3.194122	0.58017|0.58017	0.274626|0.274626	0.001279|0.001279	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.08458	.|3.09;3.09;3.09;3.09;3.09	5.84|5.84	2.46|2.46	0.29980|0.29980	.|.	.|0.270974	.|0.35525	.|N	.|0.003141	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	P|P	0.9999999999996939|0.9999999999996939	.|D;P;D;P;D;D	.|0.89917	.|1.0;0.777;1.0;0.944;0.993;0.993	.|D;B;D;B;P;P	.|0.65773	.|0.938;0.1;0.938;0.332;0.596;0.596	T|T	0.40365|0.40365	-0.9567|-0.9567	4|9	.|0.54805	.|T	.|0.06	-4.1201|-4.1201	11.7384|11.7384	0.51778|0.51778	0.0:0.0:0.3884:0.6116|0.0:0.0:0.3884:0.6116	rs60878965;rs61731748|rs60878965;rs61731748	.|309;22;309;309;309;309	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|M	28|171;309;187;309;309;22	.|ENSP00000396361:T171M;ENSP00000360495:T309M;ENSP00000379290:T309M;ENSP00000360490:T309M;ENSP00000409956:T22M	.|ENSP00000360490:T309M	R|T	-|-	1|2	2|0	BCAS1|BCAS1	52044959|52044959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	1.044000|1.044000	0.30329|0.30329	0.727000|0.727000	0.32360|0.32360	0.655000|0.655000	0.94253|0.94253	CGG|ACG	G|0.916;A|0.084	0.084	strong		0.343	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	Missense_Mutation	A	52611552	G	A	52611552	5	1	22	1	0	0	0	0	0	0	1	0	1350	1159	40	1	856	1	BCAS1	20	52611552	Splice_Site	SNP	G	TCGA-G8-6324-01A-11D-2210-10	412933	52611552	10413968	10577	15685										
BCAS1	8537	hgsc.bcm.edu	37	chr20	52675188	52675188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taatggttactacactacctGgtaagtctctgcttctggtt	8	9	2	0	rs394732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:52675188G>T	ENST00000395961.3	-	2	236	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	BCAS1_ENST00000371435.2_Missense_Mutation_p.Q24K|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q24K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	24			Q -> K (in dbSNP:rs394732).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TACACTACCTGGTAAGTCTCT	0.408													T|||	2885	0.576078	0.8094	0.3199	5008	,	,		15260	0.6339		0.4175	False		,,,				2504	0.546				p.Q24K		Atlas-SNP	.											.	BCAS1	77	.	0			c.C70A						PASS	.	T	LYS/GLN	3283,1123	403.5+/-332.8	1222,839,142	186	185	185		70	-0.3	0	20	dbSNP_80	185	3736,4864	617.3+/-396.6	803,2130,1367	yes	missense	BCAS1	NM_003657.2	53	2025,2969,1509	TT,TG,GG		43.4419,25.488,46.0326	benign	24/585	52675188	7019,5987	2203	4300	6503	SO:0001583	missense	8537	exon2			CTACCTGGTAAGT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.70C>A	20.37:g.52675188G>T	ENSP00000379290:p.Gln24Lys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	56	30	0.535714	NM_003657	A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	1190	0.5448717948717948	390	0.7926829268292683	135	0.3729281767955801	343	0.5996503496503497	322	0.42480211081794195	T	0.254	-1.004058	0.02112	0.74512	0.434419	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435	T;T;T	0.12039	2.72;2.73;2.73	4.97	-0.322	0.12713	.	0.595161	0.16117	N	0.228808	T	0.00012	0.0000	N	0.00246	-1.78	0.23095	P	0.99830474	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21348	-1.0248	9	0.02654	T	1	-1.2767	5.6521	0.17622	0.0:0.1731:0.3608:0.4661	rs394732;rs17553498;rs52795105;rs57822491;rs394732	24;24	G3XAF7;O75363	.;BCAS1_HUMAN	K	24	ENSP00000360495:Q24K;ENSP00000379290:Q24K;ENSP00000360490:Q24K	ENSP00000360490:Q24K	Q	-	1	0	BCAS1	52108595	0.413000	0.25400	0.031000	0.17742	0.072000	0.16883	0.213000	0.17521	-0.426000	0.07360	-0.256000	0.11100	CAG	A|0.003;C|0.003	.	strong		0.408	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		T	52675188	G	T	52675188	3	4	22	1	0	0	0	0	1	0	0	0	1350	1357	47	4	1728	4	BCAS1	20	52675188	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63636	52675188	10350332	10578	15686										
CYP24A1	1591	hgsc.bcm.edu	37	chr20	52786219	52786219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctattctgcccataaaatcGgccaagaccttcaaagaaaa	5	11	3	2	rs2296241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:52786219G>A	ENST00000216862.3	-	4	945	c.552C>T	c.(550-552)gcC>gcT	p.A184A	CYP24A1_ENST00000395954.3_Silent_p.A42A|CYP24A1_ENST00000395955.3_Silent_p.A184A	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	184					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCATAAAATCGGCCAAGACCT	0.408													A|||	2294	0.458067	0.4917	0.4222	5008	,	,		21649	0.4058		0.5328	False		,,,				2504	0.4151				p.A184A		Atlas-SNP	.											CYP24A1,trunk,malignant_melanoma,-1,1	CYP24A1	75	1	0			c.C552T						PASS	.	A	,	2184,2222	590.7+/-387.4	515,1154,534	106	92	97		552,552	-3.5	1	20	dbSNP_100	97	4635,3965	551.3+/-385.9	1236,2163,901	yes	coding-synonymous,coding-synonymous	CYP24A1	NM_000782.4,NM_001128915.1	,	1751,3317,1435	AA,AG,GG		46.1047,49.5688,47.5704	,	184/515,184/449	52786219	6819,6187	2203	4300	6503	SO:0001819	synonymous_variant	1591	exon4			AAAATCGGCCAAG	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.552C>T	20.37:g.52786219G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	124	59	0.475806	NM_000782	Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	CCDS33491.1																																																																																			G|0.500;A|0.500	0.500	strong		0.408	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			A	52786219	G	A	52786219	2	1	22	1	0	0	0	0	0	0	0	1	4154	1103	39	1		1	CYP24A1	20	52786219	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111031	52786219	10239301	10579	15687										
MC3R	4159	hgsc.bcm.edu	37	chr20	54824029	54824029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtcttcatcaagcccgagGttttcctgtctctgggcatc	10	12	4	0	rs3827103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:54824029G>A	ENST00000243911.2	+	1	242	c.130G>A	c.(130-132)Gtt>Att	p.V44I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	44			V -> I (have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103). {ECO:0000269|PubMed:8463333}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CAAGCCCGAGGTTTTCCTGTC	0.557													G|||	1263	0.252196	0.4841	0.1009	5008	,	,		21599	0.253		0.0765	False		,,,				2504	0.226				p.V44I		Atlas-SNP	.											.	MC3R	83	.	0			c.G130A	GRCh37	CM053305	MC3R	M	rs3827103	PASS	.	G	ILE/VAL	1845,2561	537.9+/-374.9	396,1053,754	112	100	104	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	130	4.1	1	20	dbSNP_107	104	744,7856	180.2+/-229.2	31,682,3587	yes	missense	MC3R	NM_019888.3	29	427,1735,4341	AA,AG,GG		8.6512,41.8747,19.9062	possibly-damaging	44/324	54824029	2589,10417	2203	4300	6503	SO:0001583	missense	4159	exon1			CCCGAGGTTTTCC		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.130G>A	20.37:g.54824029G>A	ENSP00000243911:p.Val44Ile	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	85	85	1	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	446	0.2042124542124542	217	0.4410569105691057	38	0.10497237569060773	134	0.23426573426573427	57	0.07519788918205805	G	16.85	3.235825	0.58886	0.418747	0.086512	ENSG00000124089	ENST00000243911	T	0.38077	1.16	5.01	4.05	0.47172	.	0.000000	0.64402	D	0.000020	T	0.00012	0.0000	N	0.08118	0	0.22354	P	0.99917716	B	0.33857	0.429	B	0.24006	0.05	T	0.41088	-0.9528	9	0.56958	D	0.05	.	13.4595	0.61219	0.0787:0.0:0.9213:0.0	rs3827103;rs17847260;rs60060922;rs3827103	81	P41968	MC3R_HUMAN	I	44	ENSP00000243911:V44I	ENSP00000243911:V44I	V	+	1	0	MC3R	54257436	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.535000	0.73838	2.317000	0.78254	0.650000	0.86243	GTT	G|0.782;A|0.218	0.218	strong		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824029	G	A	54824029	3	1	22	1	0	0	0	0	1	0	0	0	9365	1261	44	2	132	2	MC3R	20	54824029	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2037810	54824029	8201491	10580	15688										
C20orf108	116151	hgsc.bcm.edu	37	chr20	54941268	54941268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagtgagaatcagcattacGctagtctctgtgcccttgat	9	11	2	2	rs6099116	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:54941268G>A	ENST00000371384.3	+	3	595	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	168	DUF1279.					integral component of membrane (GO:0016021)											TCAGCATTACGCTAGTCTCTG	0.453													G|||	548	0.109425	0.3835	0.0274	5008	,	,		17731	0.001		0.008	False		,,,				2504	0.0133				p.T168T		Atlas-SNP	.											.	.	.	.	0			c.G504A						PASS	.	G		1433,2973	467.6+/-354.9	239,955,1009	138	131	134		504	-0.7	0	20	dbSNP_114	134	76,8524	45.8+/-104.6	2,72,4226	no	coding-synonymous	C20orf108	NM_080821.2		241,1027,5235	AA,AG,GG		0.8837,32.5238,11.6023		168/193	54941268	1509,11497	2203	4300	6503	SO:0001819	synonymous_variant	116151	exon3			CATTACGCTAGTC	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.504G>A	20.37:g.54941268G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	264	127	0.481061	NM_080821	B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Silent	SNP	ENST00000371384.3	37	CCDS13450.1																																																																																			G|0.885;A|0.115	0.115	strong		0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		A	54941268	G	A	54941268	2	1	22	1	0	0	0	0	0	0	0	1	2078	1074	38	1		1	C20orf108	20	54941268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117239	54941268	8084252	10581	15689										
CASS4	57091	hgsc.bcm.edu	37	chr20	55027509	55027509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgactcctccagctcttcctCggaggagtcagcaaaggagc	11	14	2	0	rs34899200	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:55027509C>T	ENST00000360314.3	+	6	1502	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	CASS4_ENST00000371336.3_Missense_Mutation_p.S426L|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	426	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGCTCTTCCTCGGAGGAGTCA	0.572													C|||	94	0.01877	0.0681	0.0043	5008	,	,		20870	0.0		0.001	False		,,,				2504	0.0				p.S426L		Atlas-SNP	.											CASS4,rectum,adenoma,-1,1	CASS4	121	1	0			c.C1277T						PASS	.	C	LEU/SER,,LEU/SER,LEU/SER	242,4164	137.7+/-173.5	9,224,1970	44	40	41		1115,,1277,1277	2.7	0	20	dbSNP_126	41	5,8593	4.3+/-15.6	0,5,4294	yes	missense,intron,missense,missense	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	145,,145,145	9,229,6264	TT,TC,CC		0.0582,5.4925,1.8994	possibly-damaging,,possibly-damaging,possibly-damaging	372/733,,426/787,426/787	55027509	247,12757	2203	4299	6502	SO:0001583	missense	57091	exon5			CTTCCTCGGAGGA	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1277C>T	20.37:g.55027509C>T	ENSP00000353462:p.Ser426Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	31	0.014194139194139194	30	0.06097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	15.20	2.762107	0.49468	0.054925	5.82E-4	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.16597	2.33;2.33	5.6	2.65	0.31530	.	0.315398	0.35708	N	0.003026	T	0.01940	0.0061	M	0.76002	2.32	0.09310	N	1	B;B;B	0.31640	0.225;0.333;0.225	B;B;B	0.25506	0.028;0.061;0.028	T	0.04537	-1.0944	10	0.42905	T	0.14	-1.5677	11.146	0.48430	0.0:0.8005:0.0:0.1995	rs34899200	372;426;426	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	L	426	ENSP00000353462:S426L;ENSP00000360387:S426L	ENSP00000353462:S426L	S	+	2	0	CASS4	54460916	0.617000	0.27043	0.002000	0.10522	0.864000	0.49448	2.043000	0.41231	0.416000	0.25844	-0.157000	0.13467	TCG	C|0.984;T|0.016	0.016	strong		0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55027509	C	T	55027509	3	4	22	1	0	0	0	0	1	0	0	0	2683	893	31	1	1295	1	CASS4	20	55027509	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86241	55027509	7998011	10582	15690										
CASS4	57091	hgsc.bcm.edu	37	chr20	55033420	55033420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggccctcttatacctcagCcttcgagtcaacagactcct	6	16	3	1	rs35031530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:55033420C>T	ENST00000360314.3	+	7	2203	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	CASS4_ENST00000371336.3_Missense_Mutation_p.P660S|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Missense_Mutation_p.P223S	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	660			P -> S (in dbSNP:rs35031530). {ECO:0000269|PubMed:14702039}.		cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TATACCTCAGCCTTCGAGTCA	0.507													C|||	735	0.146765	0.3086	0.0403	5008	,	,		13987	0.2381		0.004	False		,,,				2504	0.0562				p.P660S		Atlas-SNP	.											CASS4,NS,carcinoma,-1,1	CASS4	121	1	0			c.C1978T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1094,3312	372.0+/-320.2	134,826,1243	51	57	55		1816,667,1978,1978	-2.6	0	20	dbSNP_126	55	33,8567	22.2+/-67.0	0,33,4267	yes	missense,missense,missense,missense	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	74,74,74,74	134,859,5510	TT,TC,CC		0.3837,24.8298,8.6652	benign,benign,benign,benign	606/733,223/350,660/787,660/787	55033420	1127,11879	2203	4300	6503	SO:0001583	missense	57091	exon6			CCTCAGCCTTCGA	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1978C>T	20.37:g.55033420C>T	ENSP00000353462:p.Pro660Ser	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	102	101	0.990196	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	297	0.13598901098901098	135	0.27439024390243905	12	0.03314917127071823	148	0.25874125874125875	2	0.002638522427440633	C	8.848	0.943837	0.18281	0.248298	0.003837	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.20738	2.05;2.05;2.05	5.65	-2.58	0.06228	CAS family, DUF3513 (1);	1.567350	0.02946	N	0.141079	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.003;0.004;0.008	T	0.41052	-0.9530	9	0.18276	T	0.48	-1.3722	0.1155	0.00060	0.2771:0.2108:0.1786:0.3335	rs35031530;rs57004305	606;223;660	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	S	660;660;223	ENSP00000353462:P660S;ENSP00000360387:P660S;ENSP00000410027:P223S	ENSP00000353462:P660S	P	+	1	0	CASS4	54466827	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.416000	0.07097	-0.141000	0.11374	-0.878000	0.02970	CCT	C|0.905;T|0.095	0.095	strong		0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55033420	C	T	55033420	3	4	22	1	0	0	0	0	1	0	0	0	2683	739	26	2	2000	2	CASS4	20	55033420	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5911	55033420	7992100	10583	15691										
C20orf107	388799	hgsc.bcm.edu	37	chr20	55111273	55111273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcccatttcgcactccaCtaaagaaaaatcaaaatgct	4	12	1	1	rs2296128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:55111273C>T	ENST00000371325.1	+	2	391	c.295C>T	c.(295-297)Cta>Tta	p.L99L		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	99						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCGCACTCCACTAAAGAAAAA	0.398													C|||	549	0.109625	0.0219	0.0346	5008	,	,		21036	0.4524		0.002	False		,,,				2504	0.0389				p.L99L		Atlas-SNP	.											.	.	.	.	0			c.C295T						PASS	.	C		109,4297	83.9+/-122.4	0,109,2094	94	95	95		295	-3.6	0	20	dbSNP_100	95	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	C20orf107	NM_001013646.2		0,119,6384	TT,TC,CC		0.1163,2.4739,0.915		99/172	55111273	119,12887	2203	4300	6503	SO:0001819	synonymous_variant	388799	exon2			ACTCCACTAAAGA	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.295C>T	20.37:g.55111273C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	112	61	0.544643	NM_001013646	Q3KRB5	Silent	SNP	ENST00000371325.1	37	CCDS33494.1																																																																																			C|0.937;T|0.063	0.063	strong		0.398	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			T	55111273	C	T	55111273	2	4	22	1	0	0	0	0	0	0	0	1	2077	564	20	2		2	C20orf107	20	55111273	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77853	55111273	7914247	10584	15692										
C20orf107	388799	hgsc.bcm.edu	37	chr20	55111364	55111364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttttgaaatttgtgtccgAagtgcagaatcttaaaggtg	11	5	1	2	rs2296129	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:55111364A>C	ENST00000371325.1	+	2	482	c.386A>C	c.(385-387)gAa>gCa	p.E129A		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	129			E -> A (in dbSNP:rs2296129).			integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTTGTGTCCGAAGTGCAGAAT	0.423													A|||	528	0.105431	0.0061	0.0331	5008	,	,		20202	0.4534		0.002	False		,,,				2504	0.0389				p.E129A		Atlas-SNP	.											.	.	.	.	0			c.A386C						PASS	.	A	ALA/GLU	37,4369	41.6+/-74.8	0,37,2166	98	97	97		386	1.2	1	20	dbSNP_100	97	10,8590	7.1+/-27.0	0,10,4290	yes	missense	C20orf107	NM_001013646.2	107	0,47,6456	CC,CA,AA		0.1163,0.8398,0.3614	benign	129/172	55111364	47,12959	2203	4300	6503	SO:0001583	missense	388799	exon2			TGTCCGAAGTGCA	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.386A>C	20.37:g.55111364A>C	ENSP00000360376:p.Glu129Ala	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	130	69	0.530769	NM_001013646	Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	266	0.12179487179487179	0	0.0	10	0.027624309392265192	255	0.4458041958041958	1	0.0013192612137203166	A	6.202	0.405366	0.11754	0.008398	0.001163	ENSG00000213714	ENST00000371325	T	0.07908	3.15	3.55	1.2	0.21068	.	0.382680	0.21732	N	0.069953	T	0.00012	0.0000	N	0.08118	0	0.58432	P	9.000000000036756E-6	B	0.06786	0.001	B	0.06405	0.002	T	0.46414	-0.9193	9	0.66056	D	0.02	-10.4598	5.2781	0.15661	0.7472:0.0:0.2528:0.0	rs2296129;rs60361515;rs2296129	129	Q5JX69	CT107_HUMAN	A	129	ENSP00000360376:E129A	ENSP00000360376:E129A	E	+	2	0	C20orf107	54544771	1.000000	0.71417	0.963000	0.40424	0.029000	0.11900	1.033000	0.30191	0.123000	0.18342	0.454000	0.30748	GAA	A|0.951;C|0.049	0.049	strong		0.423	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			C	55111364	A	C	55111364	3	2	22	1	0	0	0	0	1	0	0	0	2077	246	9	5	392	5	C20orf107	20	55111364	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	91	55111364	7914156	10585	15693										
ZBP1	81030	hgsc.bcm.edu	37	chr20	56189985	56189985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggactgctcatccatgtCcagaaggtgcctgctcttca	9	12	3	1	rs16981187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:56189985C>G	ENST00000371173.3	-	4	637	c.460G>C	c.(460-462)Gac>Cac	p.D154H	ZBP1_ENST00000343535.4_Missense_Mutation_p.D154H|ZBP1_ENST00000541799.1_Missense_Mutation_p.D154H|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000395822.3_Missense_Mutation_p.D79H|ZBP1_ENST00000340462.4_Missense_Mutation_p.D131H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	154			D -> H (in dbSNP:rs16981187).		innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCATCCATGTCCAGAAGGTGC	0.572													C|||	268	0.0535144	0.0719	0.0432	5008	,	,		21012	0.0079		0.0487	False		,,,				2504	0.0879				p.D154H		Atlas-SNP	.											.	ZBP1	65	.	0			c.G460C						PASS	.	C	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	317,4089	169.4+/-200.1	15,287,1901	222	174	191		460,235,460,460	-5.4	0	20	dbSNP_123	191	408,8192	128.7+/-186.9	13,382,3905	yes	missense,missense,missense,missense	ZBP1	NM_001160417.1,NM_001160418.1,NM_001160419.1,NM_030776.2	81,81,81,81	28,669,5806	GG,GC,CC		4.7442,7.1947,5.5744	probably-damaging,probably-damaging,probably-damaging,probably-damaging	154/429,79/355,154/249,154/430	56189985	725,12281	2203	4300	6503	SO:0001583	missense	81030	exon4			CCATGTCCAGAAG	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.460G>C	20.37:g.56189985C>G	ENSP00000360215:p.Asp154His	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	249	127	0.51004	NM_001160419	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	95	0.043498168498168496	38	0.07723577235772358	18	0.049723756906077346	1	0.0017482517482517483	38	0.05013192612137203	C	9.503	1.103680	0.20632	0.071947	0.047442	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	3.39	-5.43	0.02632	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.755500	0.02862	N	0.130409	T	0.00875	0.0029	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.32543	0.324;0.375;0.375;0.375	B;B;B;B	0.34301	0.077;0.126;0.179;0.126	T	0.08493	-1.0719	10	0.42905	T	0.14	-2.5151	5.7903	0.18357	0.0:0.1813:0.4126:0.406	rs16981187;rs16981187	154;154;79;154	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	H	154;79;131;154;154;154	ENSP00000360215:D154H;ENSP00000379167:D79H;ENSP00000344954:D131H;ENSP00000340584:D154H;ENSP00000440552:D154H	ENSP00000344954:D131H	D	-	1	0	ZBP1	55623391	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.232000	0.02936	-1.257000	0.02475	-0.175000	0.13238	GAC	C|0.946;G|0.054	0.054	strong		0.572	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		G	56189985	C	G	56189985	3	3	22	1	0	0	0	0	1	0	0	0	17518	855	30	4	926	4	ZBP1	20	56189985	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1078621	56189985	6835535	10586	15694										
PMEPA1	56937	hgsc.bcm.edu	37	chr20	56227514	56227514	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgggggctcctccccgtcTgacagcgagatggtgggtgg	19	10	1	2	rs6025698	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:56227514T>C	ENST00000341744.3	-	4	778	c.459A>G	c.(457-459)tcA>tcG	p.S153S	PMEPA1_ENST00000265626.4_Silent_p.S103S|PMEPA1_ENST00000395814.1_Silent_p.S103S|PMEPA1_ENST00000395816.3_Silent_p.S103S|PMEPA1_ENST00000347215.4_Silent_p.S118S	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	153					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.S153S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCTCCCCGTCTGACAGCGAGA	0.701													C|||	1558	0.311102	0.5484	0.1801	5008	,	,		14970	0.3661		0.1451	False		,,,				2504	0.1973				p.S153S		Atlas-SNP	.											PMEPA1,NS,lymphoid_neoplasm,0,1	PMEPA1	29	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.A459G						PASS	.	C	,,,	2058,2348	599.9+/-389.4	507,1044,652	34	37	36		459,354,309,309	-6.5	0.5	20	dbSNP_114	36	1471,7129	742.0+/-407.2	137,1197,2966	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PMEPA1	NM_020182.3,NM_199169.1,NM_199170.1,NM_199171.1	,,,	644,2241,3618	CC,CT,TT		17.1047,46.709,27.1336	,,,	153/288,118/253,103/238,103/238	56227514	3529,9477	2203	4300	6503	SO:0001819	synonymous_variant	56937	exon4			CCCGTCTGACAGC	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.459A>G	20.37:g.56227514T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_020182	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	CCDS13463.1																																																																																			T|0.715;C|0.285	0.285	strong		0.701	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		C	56227514	T	C	56227514	2	2	22	1	0	0	0	0	0	0	0	1	12132	1567	55	3		3	PMEPA1	20	56227514	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	37529	56227514	6798006	10587	15695										
APCDD1L	164284	hgsc.bcm.edu	37	chr20	57042665	57042665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgaaagagccggctggggtAgaaggtgtaggcgcgggtca	19	7	1	2	rs7265854	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:57042665A>G	ENST00000371149.3	-	3	468	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	APCDD1L_ENST00000439429.1_Missense_Mutation_p.Y91H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	80			Y -> H (in dbSNP:rs7265854).			integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CGGCTGGGGTAGAAGGTGTAG	0.672													A|||	619	0.123602	0.0643	0.1945	5008	,	,		12434	0.3026		0.0199	False		,,,				2504	0.0757				p.Y80H		Atlas-SNP	.											.	APCDD1L	48	.	0			c.T238C						PASS	.	A	HIS/TYR	312,4094	152.9+/-186.6	10,292,1901	25	27	26		238	3.5	0.8	20	dbSNP_116	26	273,8327	97.7+/-159.3	1,271,4028	yes	missense	APCDD1L	NM_153360.1	83	11,563,5929	GG,GA,AA		3.1744,7.0813,4.4979	benign	80/502	57042665	585,12421	2203	4300	6503	SO:0001583	missense	164284	exon3			TGGGGTAGAAGGT	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.238T>C	20.37:g.57042665A>G	ENSP00000360191:p.Tyr80His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	167	86	0.51497	NM_153360		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	277	0.12683150183150182	34	0.06910569105691057	55	0.15193370165745856	172	0.3006993006993007	16	0.021108179419525065	A	11.96	1.793593	0.31685	0.070813	0.031744	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.20332	2.08;2.08	4.65	3.55	0.40652	.	0.338322	0.31660	N	0.007268	T	0.00012	0.0000	L	0.56769	1.78	0.42321	P	0.007743000000000055	B;B	0.17667	0.023;0.004	B;B	0.18871	0.023;0.004	T	0.36261	-0.9755	9	0.30078	T	0.28	-12.3582	10.0012	0.41929	0.9189:0.0:0.0811:0.0	rs7265854;rs7265854	91;80	F5H6V6;Q8NCL9	.;APCDL_HUMAN	H	80;91	ENSP00000360191:Y80H;ENSP00000413261:Y91H	ENSP00000360191:Y80H	Y	-	1	0	APCDD1L	56476071	1.000000	0.71417	0.805000	0.32314	0.934000	0.57294	3.483000	0.53194	0.651000	0.30788	0.454000	0.30748	TAC	A|0.920;G|0.080	0.080	strong		0.672	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		G	57042665	A	G	57042665	3	3	22	1	0	0	0	0	1	0	0	0	766	420	15	3	1275	3	APCDD1L	20	57042665	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	815151	57042665	5982855	10588	15696										
ZNF831	128611	hgsc.bcm.edu	37	chr20	57766397	57766397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccacccaggtggggaagcCggcggcccctacgctgacgg	15	17	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:57766397C>T	ENST00000371030.2	+	1	323	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	108	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGGAAGCCGGCGGCCCCT	0.701																																					p.P108L		Atlas-SNP	.											.	ZNF831	287	.	0			c.C323T						PASS	.						9	12	11					20																	57766397		2020	4160	6180	SO:0001583	missense	128611	exon1			GGAAGCCGGCGGC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.323C>T	20.37:g.57766397C>T	ENSP00000360069:p.Pro108Leu	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	47	25	0.531915	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079440	0.36662	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.2	3.14	0.36123	.	.	.	.	.	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	P	0.42908	0.793	B	0.31547	0.132	T	0.39722	-0.9600	9	0.66056	D	0.02	-0.6362	7.8433	0.29410	0.2296:0.6849:0.0:0.0855	.	108	Q5JPB2	ZN831_HUMAN	L	108	ENSP00000360069:P108L	ENSP00000360069:P108L	P	+	2	0	ZNF831	57199792	0.703000	0.27826	0.694000	0.30210	0.923000	0.55619	1.411000	0.34702	1.194000	0.43101	0.561000	0.74099	CCG	.	.	none		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57766397	C	T	57766397	3	4	22	1	0	0	0	0	1	0	0	0	18182	652	23	1	325	1	ZNF831	20	57766397	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	723732	57766397	5259123	10589	15697										
ZNF831	128611	hgsc.bcm.edu	37	chr20	57829301	57829301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggaaattcacagtgctgaaTcacgagaccacagccagact	9	11	2	3	rs259956	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:57829301T>C	ENST00000371030.2	+	5	4537	c.4537T>C	c.(4537-4539)Tca>Cca	p.S1513P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1513			S -> P (in dbSNP:rs259956).				metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGTGCTGAATCACGAGACCA	0.527													C|||	3096	0.618211	0.3116	0.6081	5008	,	,		18876	0.9107		0.5606	False		,,,				2504	0.7975				p.S1513P		Atlas-SNP	.											ZNF831,caecum,carcinoma,0,1	ZNF831	287	1	0			c.T4537C						scavenged	.	C	PRO/SER	1427,2813		252,923,945	48	52	51		4537	-3	0	20	dbSNP_79	51	4568,3926		1251,2066,930	yes	missense	ZNF831	NM_178457.1	74	1503,2989,1875	CC,CT,TT		46.2209,33.6557,47.0787	benign	1513/1678	57829301	5995,6739	2120	4247	6367	SO:0001583	missense	128611	exon5			GCTGAATCACGAG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4537T>C	20.37:g.57829301T>C	ENSP00000360069:p.Ser1513Pro	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	136	66	0.485294	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	1304	0.5970695970695971	149	0.30284552845528456	206	0.569060773480663	518	0.9055944055944056	431	0.5686015831134564	C	1.351	-0.591513	0.03799	0.336557	0.537791	ENSG00000124203	ENST00000371030	T	0.04917	3.53	5.6	-2.98	0.05513	.	0.971967	0.08452	N	0.943747	T	0.00012	0.0000	N	0.01003	-1.06	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	9	0.02654	T	1	0.0796	1.5739	0.02621	0.1233:0.2135:0.3263:0.3369	rs259956;rs17829996;rs52820703;rs61110182;rs259956	1513	Q5JPB2	ZN831_HUMAN	P	1513	ENSP00000360069:S1513P	ENSP00000360069:S1513P	S	+	1	0	ZNF831	57262696	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.381000	0.07417	-0.195000	0.10382	-0.197000	0.12766	TCA	T|0.411;C|0.589	0.589	strong		0.527	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		C	57829301	T	C	57829301	3	2	22	1	0	0	0	0	1	0	0	0	18182	1435	50	2	4555	2	ZNF831	20	57829301	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	62904	57829301	5196219	10590	15698										
SYCP2	10388	hgsc.bcm.edu	37	chr20	58441612	58441612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagctgttttccaagactgCgtagtaaaataactcaacat	7	8	1	2	rs58905758	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58441612C>T	ENST00000357552.3	-	40	4383	c.4158G>A	c.(4156-4158)acG>acA	p.T1386T	SYCP2_ENST00000371001.2_Silent_p.T1386T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1386					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCAAGACTGCGTAGTAAAAT	0.318													C|||	87	0.0173722	0.0635	0.0029	5008	,	,		15377	0.0		0.001	False		,,,				2504	0.0				p.T1386T		Atlas-SNP	.											.	SYCP2	204	.	0			c.G4158A						PASS	.	C		199,4207	122.5+/-159.9	4,191,2008	85	87	86		4158	-2.6	0.1	20	dbSNP_129	86	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	SYCP2	NM_014258.2		4,193,6304	TT,TC,CC		0.0233,4.5166,1.5459		1386/1531	58441612	201,12801	2203	4298	6501	SO:0001819	synonymous_variant	10388	exon39			AGACTGCGTAGTA	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4158G>A	20.37:g.58441612C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	47	29	0.617021	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																			C|0.983;T|0.017	0.017	strong		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58441612	C	T	58441612	2	4	22	1	0	0	0	0	0	0	0	1	15429	755	27	1		1	SYCP2	20	58441612	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	612311	58441612	4583908	10591	15699										
SYCP2	10388	hgsc.bcm.edu	37	chr20	58475307	58475307	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaactaacgagctcttctccGactggtgagatttgactttc	8	10	2	2	rs6027185	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58475307G>A	ENST00000357552.3	-	18	1515	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	SYCP2_ENST00000371001.2_Silent_p.V430V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	430					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCTTCTCCGACTGGTGAGA	0.338													G|||	417	0.0832668	0.2769	0.0259	5008	,	,		17811	0.0159		0.005	False		,,,				2504	0.0123				p.V430V		Atlas-SNP	.											.	SYCP2	204	.	0			c.C1290T						PASS	.	G		1004,3400	364.1+/-316.8	121,762,1319	75	70	72		1290	-10.3	0	20	dbSNP_114	72	47,8553	29.6+/-80.5	1,45,4254	no	coding-synonymous	SYCP2	NM_014258.2		122,807,5573	AA,AG,GG		0.5465,22.7975,8.0821		430/1531	58475307	1051,11953	2202	4300	6502	SO:0001819	synonymous_variant	10388	exon17			TTCTCCGACTGGT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1290C>T	20.37:g.58475307G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																			G|0.919;A|0.081	0.081	strong		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58475307	G	A	58475307	2	1	22	1	0	0	0	0	0	0	0	1	15429	1045	37	1		1	SYCP2	20	58475307	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	33695	58475307	4550213	10592	15700										
SYCP2	10388	hgsc.bcm.edu	37	chr20	58476774	58476774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagtgatttctagtgatgcGtcaaaatacaaaagcaattc	7	6	2	2	rs6027186	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58476774G>A	ENST00000357552.3	-	16	1350	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	SYCP2_ENST00000371001.2_Silent_p.D375D			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	375					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTAGTGATGCGTCAAAATACA	0.274													A|||	498	0.0994409	0.2814	0.0432	5008	,	,		16573	0.0159		0.0368	False		,,,				2504	0.044				p.D375D		Atlas-SNP	.											SYCP2,caecum,carcinoma,0,1	SYCP2	204	1	0			c.C1125T						PASS	.	A		1031,3367	716.1+/-408.6	123,785,1291	72	71	71		1125	4.5	0.8	20	dbSNP_114	71	314,8262	797.4+/-407.4	3,308,3977	no	coding-synonymous	SYCP2	NM_014258.2		126,1093,5268	AA,AG,GG		3.6614,23.4425,10.3669		375/1531	58476774	1345,11629	2199	4288	6487	SO:0001819	synonymous_variant	10388	exon15			TGATGCGTCAAAA	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1125C>T	20.37:g.58476774G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	98	50	0.510204	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																			G|0.900;A|0.100	0.100	strong		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58476774	G	A	58476774	2	1	22	1	0	0	0	0	0	0	0	1	15429	1136	40	1		1	SYCP2	20	58476774	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1467	58476774	4548746	10593	15701										
SYCP2	10388	hgsc.bcm.edu	37	chr20	58496438	58496438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcacatcttcacaaatatcaAtttgcaaaagtgttttcaaa	3	8	5	0	rs61730337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58496438A>G	ENST00000357552.3	-	4	320	c.95T>C	c.(94-96)aTt>aCt	p.I32T	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Missense_Mutation_p.I32T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	32					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACAAATATCAATTTGCAAAAG	0.308													A|||	98	0.0195687	0.0711	0.0043	5008	,	,		15338	0.0		0.001	False		,,,				2504	0.0				p.I32T		Atlas-SNP	.											.	SYCP2	204	.	0			c.T95C						PASS	.	A	THR/ILE	248,4154	140.0+/-175.5	7,234,1960	55	52	53		95	1.3	1	20	dbSNP_129	53	2,8578	2.2+/-6.3	0,2,4288	yes	missense	SYCP2	NM_014258.2	89	7,236,6248	GG,GA,AA		0.0233,5.6338,1.9257	possibly-damaging	32/1531	58496438	250,12732	2201	4290	6491	SO:0001583	missense	10388	exon3			ATATCAATTTGCA	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.95T>C	20.37:g.58496438A>G	ENSP00000350162:p.Ile32Thr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	193	101	0.523316	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	A	0.025	-1.384165	0.01194	0.056338	2.33E-4	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.39997	2.62;2.62;2.37;1.05	5.04	1.3	0.21679	.	0.654897	0.15121	N	0.279380	T	0.01421	0.0046	N	0.22421	0.69	0.21553	N	0.999649	B	0.20052	0.041	B	0.14578	0.011	T	0.10706	-1.0618	10	0.12766	T	0.61	-9.6108	1.5416	0.02557	0.3441:0.1539:0.3533:0.1487	.	32	Q9BX26	SYCP2_HUMAN	T	32;32;32;31	ENSP00000360040:I32T;ENSP00000350162:I32T;ENSP00000402456:I32T;ENSP00000399300:I31T	ENSP00000350162:I32T	I	-	2	0	SYCP2	57929833	0.892000	0.30473	0.999000	0.59377	0.442000	0.32017	0.388000	0.20735	0.357000	0.24183	-0.538000	0.04264	ATT	A|0.979;G|0.021	0.021	strong		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		G	58496438	A	G	58496438	3	3	22	1	0	0	0	0	1	0	0	0	15429	101	4	2	4665	2	SYCP2	20	58496438	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19664	58496438	4529082	10594	15702										
CDH26	60437	hgsc.bcm.edu	37	chr20	58558015	58558015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcgctcaacaggaaaaaTtgtggatacatccttgattt	10	7	1	1	rs6015609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58558015T>C	ENST00000244047.5	+	5	742	c.431T>C	c.(430-432)aTt>aCt	p.I144T	CDH26_ENST00000348616.4_Missense_Mutation_p.I144T			Q8IXH8	CAD26_HUMAN	cadherin 26	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> T (in dbSNP:rs6015609).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACAGGAAAAATTGTGGATACA	0.383													T|||	272	0.0543131	0.1989	0.0101	5008	,	,		19452	0.0		0.002	False		,,,				2504	0.0				p.I144T		Atlas-SNP	.											CDH26_ENST00000244047,colon,carcinoma,0,2	CDH26	229	2	0			c.T431C						PASS	.	T	THR/ILE	677,3729	286.9+/-279.0	43,591,1569	163	164	163		431	1.2	0	20	dbSNP_114	163	7,8593	5.7+/-21.5	0,7,4293	yes	missense	CDH26	NM_177980.2	89	43,598,5862	CC,CT,TT		0.0814,15.3654,5.2591	possibly-damaging	144/833	58558015	684,12322	2203	4300	6503	SO:0001583	missense	60437	exon5			GAAAAATTGTGGA	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.431T>C	20.37:g.58558015T>C	ENSP00000244047:p.Ile144Thr	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	219	107	0.488584	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		110	0.05036630036630037	107	0.21747967479674796	3	0.008287292817679558	0	0.0	0	0.0	T	9.677	1.148287	0.21288	0.153654	8.14E-4	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60548	0.18;0.18	4.91	1.24	0.21308	.	0.657454	0.14814	N	0.296857	T	0.00039	0.0001	L	0.29908	0.895	0.80722	P	0.0	B	0.14438	0.01	B	0.20577	0.03	T	0.13361	-1.0512	9	0.12766	T	0.61	.	4.1382	0.10181	0.1494:0.1729:0.0:0.6776	rs6015609;rs58633041;rs6015609	144	Q8IXH8-4	.	T	144	ENSP00000244047:I144T;ENSP00000339390:I144T	ENSP00000244047:I144T	I	+	2	0	CDH26	57991410	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	0.068000	0.14531	0.213000	0.20722	0.533000	0.62120	ATT	T|0.938;C|0.062	0.062	strong		0.383	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		C	58558015	T	C	58558015	3	2	22	1	0	0	0	0	1	0	0	0	3110	1493	52	2	449	2	CDH26	20	58558015	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	61577	58558015	4467505	10595	15703										
CDH26	60437	hgsc.bcm.edu	37	chr20	58558073	58558073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtgaatgatcatgcaccCcagtttccagagaaggaatt	10	8	1	3	rs6015610	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58558073C>T	ENST00000244047.5	+	5	800	c.489C>T	c.(487-489)ccC>ccT	p.P163P	CDH26_ENST00000348616.4_Silent_p.P163P			Q8IXH8	CAD26_HUMAN	cadherin 26	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCATGCACCCCAGTTTCCAG	0.463													C|||	389	0.0776757	0.2844	0.0144	5008	,	,		18540	0.0		0.003	False		,,,				2504	0.0				p.P163P		Atlas-SNP	.											.	CDH26	229	.	0			c.C489T						PASS	.	C		976,3430	367.6+/-318.3	104,768,1331	153	159	157		489	2.7	0	20	dbSNP_114	157	16,8584	11.2+/-40.8	0,16,4284	no	coding-synonymous	CDH26	NM_177980.2		104,784,5615	TT,TC,CC		0.186,22.1516,7.6272		163/833	58558073	992,12014	2203	4300	6503	SO:0001819	synonymous_variant	60437	exon5			TGCACCCCAGTTT	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.489C>T	20.37:g.58558073C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	153	76	0.496732	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37																																																																																				C|0.915;T|0.085	0.085	strong		0.463	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58558073	C	T	58558073	2	4	22	1	0	0	0	0	0	0	0	1	3110	610	22	2		2	CDH26	20	58558073	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58	58558073	4467447	10596	15704										
CDH26	60437	hgsc.bcm.edu	37	chr20	58571064	58571064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgcagaagtggggcttcatGtgggggccctgttccctgtc	15	10	1	1	rs194998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:58571064G>T	ENST00000244047.5	+	12	2154	c.1843G>T	c.(1843-1845)Gtg>Ttg	p.V615L	CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.V615L|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	615			V -> L (in dbSNP:rs194998).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGGGCTTCATGTGGGGGCCCT	0.582													G|||	162	0.0323482	0.1203	0.0029	5008	,	,		17976	0.0		0.001	False		,,,				2504	0.0				p.V615L		Atlas-SNP	.											.	CDH26	229	.	0			c.G1843T						PASS	.	G	LEU/VAL	509,3897	234.6+/-247.4	28,453,1722	107	90	95		1843	-7.2	0	20	dbSNP_79	95	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CDH26	NM_177980.2	32	28,457,6018	TT,TG,GG		0.0465,11.5524,3.9443	benign	615/833	58571064	513,12493	2203	4300	6503	SO:0001583	missense	60437	exon12			CTTCATGTGGGGG	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1843G>T	20.37:g.58571064G>T	ENSP00000244047:p.Val615Leu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	62	29	0.467742	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		59|59	0.027014652014652016|0.027014652014652016	58|58	0.11788617886178862|0.11788617886178862	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.78|10.78	1.446421|1.446421	0.25987|0.25987	0.115524|0.115524	4.65E-4|4.65E-4	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.58358	.|0.34;0.44	4.2|4.2	-7.21|-7.21	0.01490|0.01490	.|.	.|3.738960	.|0.00633	.|N	.|0.000487	T|T	0.00384|0.00384	0.0012|0.0012	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32071	.|0.2;0.355	.|B;B	.|0.29716	.|0.048;0.106	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.06099	.|T	.|0.92	.|.	2.1968|2.1968	0.03913|0.03913	0.1448:0.3231:0.2971:0.235|0.1448:0.3231:0.2971:0.235	rs194998;rs52815481;rs194998|rs194998;rs52815481;rs194998	.|615;615	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	I|L	206|615	.|ENSP00000244047:V615L;ENSP00000339390:V615L	.|ENSP00000244047:V615L	M|V	+|+	3|1	0|0	CDH26|CDH26	58004459|58004459	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.826000|-0.826000	0.04429|0.04429	-1.730000|-1.730000	0.01362|0.01362	-0.136000|-0.136000	0.14681|0.14681	ATG|GTG	A|0.001;C|0.008	.	strong		0.582	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58571064	G	T	58571064	3	4	22	1	0	0	0	0	1	0	0	0	3110	1377	48	4	1889	4	CDH26	20	58571064	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12991	58571064	4454456	10597	15705										
GTPBP5	26164	hgsc.bcm.edu	37	chr20	60768497	60768497	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggcacctgcaaggtgtttCtcagcaagattgaggaccgt	12	9	1	2	rs2236527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60768497C>T	ENST00000370823.3	+	2	39	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.F7F	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	7					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CAAGGTGTTTCTCAGCAAGAT	0.547													C|||	1094	0.21845	0.174	0.1282	5008	,	,		20152	0.4881		0.1173	False		,,,				2504	0.1687				p.F7F		Atlas-SNP	.											.	GTPBP5	43	.	0			c.C21T						PASS	.	C		591,3815	262.8+/-265.1	36,519,1648	101	103	102		21	4.1	0	20	dbSNP_98	102	1032,7568	219.1+/-257.3	64,904,3332	no	coding-synonymous	GTPBP5	NM_015666.3		100,1423,4980	TT,TC,CC		12.0,13.4135,12.4789		7/407	60768497	1623,11383	2203	4300	6503	SO:0001819	synonymous_variant	26164	exon2			GTGTTTCTCAGCA	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.21C>T	20.37:g.60768497C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	190	82	0.431579	NM_015666	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	CCDS13492.1																																																																																			C|0.827;T|0.173	0.173	strong		0.547	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		T	60768497	C	T	60768497	2	4	22	1	0	0	0	0	0	0	0	1	6883	912	32	2		2	GTPBP5	20	60768497	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2197433	60768497	2257023	10598	15706										
GTPBP5	26164	hgsc.bcm.edu	37	chr20	60768615	60768615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccaggctgctctcggtcGgccgtgcggacctcgccaag	13	17	1	0	rs6062133	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60768615G>A	ENST00000370823.3	+	2	157	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Missense_Mutation_p.G47S	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	47	Localized in the mitochondria.|Not localized in the mitochondria.		G -> S (in dbSNP:rs6062133).		GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GCTCTCGGTCGGCCGTGCGGA	0.622													G|||	452	0.0902556	0.1399	0.0821	5008	,	,		16510	0.0228		0.1352	False		,,,				2504	0.0521				p.G47S		Atlas-SNP	.											.	GTPBP5	43	.	0			c.G139A						PASS	.	G	SER/GLY	608,3798	265.6+/-266.7	47,514,1642	45	48	47		139	-0.7	0	20	dbSNP_114	47	1233,7367	246.8+/-275.1	88,1057,3155	yes	missense	GTPBP5	NM_015666.3	56	135,1571,4797	AA,AG,GG		14.3372,13.7994,14.155	benign	47/407	60768615	1841,11165	2203	4300	6503	SO:0001583	missense	26164	exon2			TCGGTCGGCCGTG	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.139G>A	20.37:g.60768615G>A	ENSP00000359859:p.Gly47Ser	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	123	55	0.447154	NM_015666	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	CCDS13492.1	201	0.09203296703296704	56	0.11382113821138211	28	0.07734806629834254	15	0.026223776223776224	102	0.1345646437994723	G	11.27	1.590005	0.28357	0.137994	0.143372	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.19532	2.14;2.9;2.39	5.17	-0.701	0.11269	.	0.473596	0.24158	N	0.041007	T	0.00073	0.0002	N	0.03948	-0.315	0.58432	P	1.0000000000287557E-6	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.41998	-0.9477	9	0.12766	T	0.61	-30.959	10.6978	0.45909	0.8491:0.0:0.1509:0.0	rs6062133;rs6062133	47;47;47	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	S	47	ENSP00000392267:G47S;ENSP00000359859:G47S;ENSP00000414693:G47S	ENSP00000359859:G47S	G	+	1	0	GTPBP5	60202010	0.013000	0.17824	0.001000	0.08648	0.000000	0.00434	-0.049000	0.11924	-0.378000	0.07918	-1.723000	0.00705	GGC	A|0.128;C|0.000;G|0.872	0.128	strong		0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		A	60768615	G	A	60768615	3	1	22	1	0	0	0	0	1	0	0	0	6883	1116	39	1	141	1	GTPBP5	20	60768615	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	118	60768615	2256905	10599	15707										
ADRM1	11047	hgsc.bcm.edu	37	chr20	60883770	60883778	+	In_Frame_Del	DEL	GACACGAAG	GACACGAAG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccgagcagaaagagggcGacacgaaggacaagaaggac					rs374034164		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GACACGAAG	GACACGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60883770_60883778delGACACGAAG	ENST00000253003.2	+	10	1223_1231	c.1177_1185delGACACGAAG	c.(1177-1185)gacacgaagdel	p.DTK393del	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	393	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GAAAGAGGGCGACACGAAGGACAAGAAGG	0.574																																					p.392_395del		Pindel,Atlas-Indel	.											.	ADRM1	28	.	0			c.1176_1184del						PASS	.		,	23,2,4215		0,0,23,0,2,2095					,	-0.2	0.8			134	185,0,8059		3,0,179,0,0,3940	no	codingComplex,codingComplex	ADRM1	NM_175573.1,NM_007002.2	,	3,0,202,0,2,6035	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2441,0.5896,1.6822	,	,		208,2,12274				SO:0001651	inframe_deletion	11047	exon10			.	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1177_1185delGACACGAAG	20.37:g.60883770_60883778delGACACGAAG	ENSP00000253003:p.Asp393_Lys395del	Somatic	250	.	.		WXS	Illumina HiSeq	Phase_I	243	56	0.23	NM_007002	A0PKB1|Q96FJ7|Q9H1P2	In_Frame_Del	DEL	ENST00000253003.2	37	CCDS13496.1																																																																																			GACACGAAG|0.012;-|0.988	0.988	strong		0.574	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			-	60883778	GACACGAAG	-	60883770	7	5	22	1	0	1	0	1	0	0	0	0	345	1058	37	0	1211	0	ADRM1	20	60883770	In_Frame_Del	DEL	GACACGAAG	TCGA-G8-6324-01A-11D-2210-10	115155	60883770	2141750	10600	15708										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60884473	60884473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacgggggaccggttcacCgccagcctcctcatgcagcc	13	17	2	0	rs115306720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60884473C>T	ENST00000252999.3	-	80	11073	c.11007G>A	c.(11005-11007)gcG>gcA	p.A3669A	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3669	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACCGGTTCACCGCCAGCCTCC	0.706													C|||	143	0.0285543	0.1044	0.0058	5008	,	,		7633	0.0		0.001	False		,,,				2504	0.0				p.A3669A		Atlas-SNP	.											.	LAMA5	268	.	0			c.G11007A						PASS	.			311,3885		5,301,1792	7	9	9		11007	1.9	0	20	dbSNP_132	9	2,8320		0,2,4159	no	coding-synonymous	LAMA5	NM_005560.3		5,303,5951	TT,TC,CC		0.024,7.4118,2.5004		3669/3696	60884473	313,12205	2098	4161	6259	SO:0001819	synonymous_variant	3911	exon80			GTTCACCGCCAGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.11007G>A	20.37:g.60884473C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	32	21	0.65625	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			C|0.976;T|0.024	0.024	strong		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60884473	C	T	60884473	2	4	22	1	0	0	0	0	0	0	0	1	8609	639	23	1		1	LAMA5	20	60884473	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	703	60884473	2141047	10601	15709										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60909316	60909316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggttgaagccaaagcgcaCggcgtgaccctcaggtgtgg	17	10	1	2	rs6062223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60909316C>T	ENST00000252999.3	-	22	2731	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	889	Domain IV 1 (domain IV B).		V -> M (in dbSNP:rs6062223). {ECO:0000269|PubMed:11572484}.		angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCAAAGCGCACGGCGTGACCC	0.682													c|||	545	0.108826	0.2693	0.1369	5008	,	,		16259	0.0427		0.0209	False		,,,				2504	0.0307				p.V889M		Atlas-SNP	.											.	LAMA5	268	.	0			c.G2665A						PASS	.		MET/VAL	1016,3388	360.6+/-315.3	119,778,1305	35	37	36		2665	1.4	0	20	dbSNP_114	36	195,8403	82.9+/-145.4	5,185,4109	yes	missense	LAMA5	NM_005560.3	21	124,963,5414	TT,TC,CC		2.268,23.0699,9.314	probably-damaging	889/3696	60909316	1211,11791	2202	4299	6501	SO:0001583	missense	3911	exon22			AGCGCACGGCGTG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2665G>A	20.37:g.60909316C>T	ENSP00000252999:p.Val889Met	Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	183	182	0.994536	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	192	0.08791208791208792	113	0.22967479674796748	48	0.13259668508287292	16	0.027972027972027972	15	0.01978891820580475	c	9.983	1.228672	0.22542	0.230699	0.02268	ENSG00000130702	ENST00000252999	T	0.23754	1.89	4.47	1.42	0.22433	.	0.134600	0.49916	U	0.000125	T	0.00012	0.0000	M	0.70595	2.14	0.09310	P	0.9999999999975331	D	0.63880	0.993	P	0.52554	0.702	T	0.07046	-1.0793	9	0.54805	T	0.06	.	6.1753	0.20441	0.1383:0.6535:0.1333:0.0749	rs6062223;rs59553737;rs6062223	889	O15230	LAMA5_HUMAN	M	889	ENSP00000252999:V889M	ENSP00000252999:V889M	V	-	1	0	LAMA5	60342711	0.993000	0.37304	0.048000	0.18961	0.012000	0.07955	3.085000	0.50151	0.105000	0.17753	-1.153000	0.01818	GTG	C|0.902;T|0.098	0.098	strong		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60909316	C	T	60909316	3	4	22	1	0	0	0	0	1	0	0	0	8609	536	19	1	8658	1	LAMA5	20	60909316	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24843	60909316	2116204	10602	15710										
CABLES2	81928	hgsc.bcm.edu	37	chr20	60968596	60968596	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaggtgtgggcagcaggccAtggctgtcactcttgtgtgt	16	9	2	0	rs1570027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60968596A>G	ENST00000279101.5	-	6	788	c.780T>C	c.(778-780)caT>caC	p.H260H		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	260					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCAGCAGGCCATGGCTGTCAC	0.592													A|||	1014	0.202476	0.2035	0.2666	5008	,	,		19142	0.1498		0.2336	False		,,,				2504	0.1779				p.H260H		Atlas-SNP	.											.	CABLES2	30	.	0			c.T780C						PASS	.	A		1036,3370	381.6+/-324.1	114,808,1281	119	117	117		780	-6.5	0.1	20	dbSNP_88	117	1917,6683	338.5+/-322.8	228,1461,2611	no	coding-synonymous	CABLES2	NM_031215.2		342,2269,3892	GG,GA,AA		22.2907,23.5134,22.7049		260/479	60968596	2953,10053	2203	4300	6503	SO:0001819	synonymous_variant	81928	exon6			CAGGCCATGGCTG	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.780T>C	20.37:g.60968596A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	141	75	0.531915	NM_031215	Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	CCDS33503.1	436	0.19963369963369965	104	0.21138211382113822	102	0.281767955801105	64	0.11188811188811189	166	0.21899736147757257	A	0.144	-1.099321	0.01843	0.235134	0.222907	ENSG00000149679	ENST00000453274	.	.	.	5.15	-6.47	0.01902	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.12192	-1.0557	3	.	.	.	-24.4711	14.808	0.69971	0.4038:0.0:0.5962:0.0	rs1570027;rs1570027	.	.	.	T	54	.	.	M	-	2	0	CABLES2	60401991	0.000000	0.05858	0.058000	0.19502	0.035000	0.12851	-1.013000	0.03645	-1.179000	0.02737	-0.468000	0.05107	ATG	A|0.785;G|0.215	0.215	strong		0.592	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		G	60968596	A	G	60968596	2	3	22	1	0	0	0	0	0	0	0	1	2530	214	8	2		2	CABLES2	20	60968596	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	59280	60968596	2056924	10603	15711										
C20orf151	140893	hgsc.bcm.edu	37	chr20	60989243	60989243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagtctgagccgactggTagggagggcagcatctcccc	14	12	3	2	rs34446012	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:60989243T>C	ENST00000252998.1	-	10	1320	c.1164A>G	c.(1162-1164)ctA>ctG	p.L388L		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	388						extracellular space (GO:0005615)											AGCCGACTGGTAGGGAGGGCA	0.701													T|||	25	0.00499201	0.0174	0.0029	5008	,	,		12717	0.0		0.0	False		,,,				2504	0.0				p.L388L		Atlas-SNP	.											.	.	.	.	0			c.A1164G						PASS	.	T		45,4287		0,45,2121	13	14	13		1164	-10.1	0	20	dbSNP_126	13	0,8462		0,0,4231	no	coding-synonymous	C20orf151	NM_080833.2		0,45,6352	CC,CT,TT		0.0,1.0388,0.3517		388/665	60989243	45,12749	2166	4231	6397	SO:0001819	synonymous_variant	140893	exon10			GACTGGTAGGGAG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1164A>G	20.37:g.60989243T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	65	33	0.507692	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																			T|0.996;C|0.004	0.004	strong		0.701	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		C	60989243	T	C	60989243	2	2	22	1	0	0	0	0	0	0	0	1	2091	1625	57	2		2	C20orf151	20	60989243	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20647	60989243	2036277	10604	15712										
SLCO4A1	28231	hgsc.bcm.edu	37	chr20	61292475	61292475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagttgaaggacagcagcCgtggggaggcgagcaacccg	16	11	0	1	rs201057493		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61292475C>T	ENST00000370507.1	+	4	1165	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R357C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	357					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGACAGCAGCCGTGGGGAGGC	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		11244	0.0		0.001	False		,,,				2504	0.0				p.R357C	Pancreas(168;741 2006 10379 40139 45334)	Atlas-SNP	.											SLCO4A1,uveal_tract,malignant_melanoma,0,1	SLCO4A1	65	1	0			c.C1069T						PASS	.		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	80	83		1069	3.2	0	20		83	0,8600		0,0,4300	no	missense	SLCO4A1	NM_016354.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	357/723	61292475	1,13005	2203	4300	6503	SO:0001583	missense	28231	exon5			AGCAGCCGTGGGG	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1069C>T	20.37:g.61292475C>T	ENSP00000359538:p.Arg357Cys	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_016354	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	6.688	0.495496	0.12762	2.27E-4	0.0	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.41400	1.0;1.0	4.25	3.22	0.36961	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	6.950440	0.00447	N	0.000090	T	0.42810	0.1219	L	0.54323	1.7	0.19300	N	0.999972	B	0.15473	0.013	B	0.15484	0.013	T	0.30707	-0.9969	10	0.56958	D	0.05	.	7.3638	0.26762	0.0:0.7375:0.1713:0.0912	.	357	Q96BD0	SO4A1_HUMAN	C	357	ENSP00000217159:R357C;ENSP00000359538:R357C	ENSP00000217159:R357C	R	+	1	0	SLCO4A1	60762920	0.092000	0.21681	0.008000	0.14137	0.002000	0.02628	2.568000	0.45965	1.940000	0.56252	0.450000	0.29827	CGT	C|1.000;T|0.000	0.000	strong		0.622	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61292475	C	T	61292475	3	4	22	1	0	0	0	0	1	0	0	0	14729	652	23	1	1083	1	SLCO4A1	20	61292475	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	303232	61292475	1733045	10605	15713										
NTSR1	4923	hgsc.bcm.edu	37	chr20	61386231	61386231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgcggcacggcgtgcgCgtcctacgtacgtaacctct	12	16	1	0	rs6010685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61386231C>T	ENST00000370501.3	+	2	1280	c.909C>T	c.(907-909)cgC>cgT	p.R303R		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	303					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGGCGTGCGCGTCCTACGTA	0.687													c|||	319	0.0636981	0.1142	0.0202	5008	,	,		16835	0.0198		0.0616	False		,,,				2504	0.0736				p.R303R	GBM(37;400 780 6403 19663 35669)	Atlas-SNP	.											NTSR1,NS,malignant_melanoma,+1,1	NTSR1	59	1	0			c.C909T						PASS	.			474,3920	211.2+/-231.4	25,424,1748	38	30	33		909	-4.5	0	20	dbSNP_114	33	441,8147	129.8+/-187.9	6,429,3859	no	coding-synonymous	NTSR1	NM_002531.2		31,853,5607	TT,TC,CC		5.1351,10.7874,7.0482		303/419	61386231	915,12067	2197	4294	6491	SO:0001819	synonymous_variant	4923	exon2			CGTGCGCGTCCTA		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.909C>T	20.37:g.61386231C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	29	19	0.655172	NM_002531	Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	CCDS13502.1																																																																																			C|0.934;T|0.066	0.066	strong		0.687	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			T	61386231	C	T	61386231	2	4	22	1	0	0	0	0	0	0	0	1	10710	755	27	1		1	NTSR1	20	61386231	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93756	61386231	1639289	10606	15714										
OGFR	11054	hgsc.bcm.edu	37	chr20	61443871	61443871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaagcccagctctctgcccCatccgctcgagggctccagg	10	18	2	0	rs77478162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61443871C>T	ENST00000290291.6	+	7	929	c.904C>T	c.(904-906)Cat>Tat	p.H302Y	OGFR_ENST00000370461.1_Missense_Mutation_p.H250Y	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	302					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CTCTCTGCCCCATCCGCTCGA	0.682													C|||	91	0.0181709	0.0666	0.0043	5008	,	,		13687	0.0		0.0	False		,,,				2504	0.0				p.H302Y		Atlas-SNP	.											.	OGFR	63	.	0			c.C904T						PASS	.	C	TYR/HIS	186,4136		0,186,1975	8	8	8		904	-1.5	0	20	dbSNP_131	8	2,8478		0,2,4238	yes	missense	OGFR	NM_007346.2	83	0,188,6213	TT,TC,CC		0.0236,4.3036,1.4685	benign	302/678	61443871	188,12614	2161	4240	6401	SO:0001583	missense	11054	exon7			CTGCCCCATCCGC	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.904C>T	20.37:g.61443871C>T	ENSP00000290291:p.His302Tyr	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	65	32	0.492308	NM_007346	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	31	0.014194139194139194	29	0.05894308943089431	2	0.0055248618784530384	0	0.0	0	0.0	C	8.778	0.927439	0.18056	0.043036	2.36E-4	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.43688	1.94;0.94;1.52	3.86	-1.55	0.08558	.	4.120900	0.01321	N	0.010938	T	0.02848	0.0085	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24651	0.035;0.006;0.108	B;B;B	0.23018	0.031;0.001;0.043	T	0.06752	-1.0809	10	0.37606	T	0.19	0.1436	0.781	0.01041	0.2558:0.3046:0.1089:0.3306	.	302;285;302	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	Y	302;302;302;157;250	ENSP00000290291:H302Y;ENSP00000359499:H302Y;ENSP00000359491:H250Y	ENSP00000290291:H302Y	H	+	1	0	OGFR	60914316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.754000	0.04787	-0.100000	0.12241	-0.254000	0.11334	CAT	C|0.984;T|0.016	0.016	strong		0.682	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			T	61443871	C	T	61443871	3	4	22	1	0	0	0	0	1	0	0	0	10843	594	21	2	930	2	OGFR	20	61443871	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	57640	61443871	1581649	10607	15715										
OGFR	11054	hgsc.bcm.edu	37	chr20	61444900	61444900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcggagaccccaggccccAgcccggcaggacctacaagg	12	17	0	1	rs61735508	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61444900A>C	ENST00000290291.6	+	7	1958	c.1933A>C	c.(1933-1935)Agc>Cgc	p.S645R	OGFR_ENST00000370461.1_Missense_Mutation_p.S593R	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	645	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCCAGGCCCCAGCCCGGCAGG	0.692													a|||	178	0.0355431	0.1233	0.0086	5008	,	,		13505	0.0		0.004	False		,,,				2504	0.0051				p.S645R		Atlas-SNP	.											.	OGFR	63	.	0			c.A1933C						PASS	.	A	ARG/SER	255,4123		7,241,1941	24	29	28		1933	-0.6	0	20	dbSNP_129	28	10,8570		0,10,4280	no	missense	OGFR	NM_007346.2	110	7,251,6221	CC,CA,AA		0.1166,5.8246,2.0451	possibly-damaging	645/678	61444900	265,12693	2189	4290	6479	SO:0001583	missense	11054	exon7			GGCCCCAGCCCGG	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1933A>C	20.37:g.61444900A>C	ENSP00000290291:p.Ser645Arg	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	64	37	0.578125	NM_007346	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	60	0.027472527472527472	53	0.10772357723577236	4	0.011049723756906077	1	0.0017482517482517483	2	0.002638522427440633	A	6.697	0.497303	0.12762	0.058246	0.001166	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.13089	2.62;2.62	0.584	-0.628	0.11537	.	.	.	.	.	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	1	P;P;P	0.52842	0.956;0.956;0.956	P;P;P	0.45829	0.494;0.494;0.494	T	0.18493	-1.0335	9	0.22109	T	0.4	.	1.7819	0.03033	0.4838:0.0:0.2359:0.2802	rs61735508	645;628;645	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	R	645;625;480;593	ENSP00000290291:S645R;ENSP00000359491:S593R	ENSP00000290291:S645R	S	+	1	0	OGFR	60915345	0.004000	0.15560	0.002000	0.10522	0.050000	0.14768	-0.440000	0.06888	-0.224000	0.09928	0.076000	0.15429	AGC	A|0.975;C|0.025	0.025	strong		0.692	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			C	61444900	A	C	61444900	3	2	22	1	0	0	0	0	1	0	0	0	10843	188	7	5	1959	5	OGFR	20	61444900	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1029	61444900	1580620	10608	15716										
COL9A3	1299	hgsc.bcm.edu	37	chr20	61448933	61448933	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcagagagtgggactcccCggcccccccggccccccagg	12	19	1	1	rs544133282|rs2273078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61448933C>A	ENST00000343916.3	+	2	96	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	31	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGGGACTccccggcccccccg	0.731													A|||	804	0.160543	0.211	0.1484	5008	,	,		9815	0.251		0.0775	False		,,,				2504	0.093				p.P31P		Atlas-SNP	.											.	COL9A3	70	.	0			c.C93A						PASS	.	A		550,3092		33,484,1304	5	7	6		93	0.2	0.1	20	dbSNP_100	6	409,6799		10,389,3205	no	coding-synonymous	COL9A3	NM_001853.3		43,873,4509	AA,AC,CC		5.6743,15.1016,8.8387		31/685	61448933	959,9891	1821	3604	5425	SO:0001819	synonymous_variant	1299	exon2			ACTCCCCGGCCCC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.93C>A	20.37:g.61448933C>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	45	19	0.422222	NM_001853	Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	CCDS13505.1																																																																																			C|0.816;A|0.184	0.184	strong		0.731	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		A	61448933	C	A	61448933	2	1	22	1	0	0	0	0	0	0	0	1	3709	639	23	4		4	COL9A3	20	61448933	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4033	61448933	1576587	10609	15717										
COL9A3	1299	hgsc.bcm.edu	37	chr20	61463522	61463522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagggtccgggaggtgccgCaggccctaagggagaccagg	18	12	0	1	rs751557	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61463522C>A	ENST00000343916.3	+	25	1307	c.1304C>A	c.(1303-1305)gCa>gAa	p.A435E		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	435	Triple-helical region 3 (COL3).		A -> E (in dbSNP:rs751557). {ECO:0000269|PubMed:11565064, ECO:0000269|PubMed:8586434}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGAGGTGCCGCAGGCCCTAAG	0.602													C|||	1066	0.212859	0.447	0.1729	5008	,	,		20947	0.0496		0.2177	False		,,,				2504	0.0879				p.A435E		Atlas-SNP	.											COL9A3,caecum,carcinoma,0,1	COL9A3	70	1	0			c.C1304A						PASS	.	C	GLU/ALA	1747,2659	513.9+/-368.5	338,1071,794	58	61	60		1304	4.2	0.4	20	dbSNP_86	60	1774,6826	317.9+/-313.4	185,1404,2711	yes	missense	COL9A3	NM_001853.3	107	523,2475,3505	AA,AC,CC		20.6279,39.6505,27.0721	probably-damaging	435/685	61463522	3521,9485	2203	4300	6503	SO:0001583	missense	1299	exon25			GTGCCGCAGGCCC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1304C>A	20.37:g.61463522C>A	ENSP00000341640:p.Ala435Glu	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	190	88	0.463158	NM_001853	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	464	0.21245421245421245	204	0.4146341463414634	66	0.18232044198895028	32	0.055944055944055944	162	0.21372031662269128	C	10.51	1.371130	0.24771	0.396505	0.206279	ENSG00000092758	ENST00000343916	D	0.93712	-3.27	5.2	4.23	0.50019	.	0.843935	0.10592	N	0.656672	T	0.00012	0.0000	N	0.05078	-0.115	0.80722	P	0.0	B	0.23185	0.081	B	0.25506	0.061	T	0.04664	-1.0935	9	0.07325	T	0.83	.	12.5103	0.56002	0.0:0.868:0.0:0.132	rs751557;rs59729765;rs751557	435	Q14050	CO9A3_HUMAN	E	435	ENSP00000341640:A435E	ENSP00000341640:A435E	A	+	2	0	COL9A3	60933967	0.003000	0.15002	0.425000	0.26659	0.227000	0.25037	0.934000	0.28910	2.584000	0.87258	0.462000	0.41574	GCA	T|0.003;G|0.006	.	strong		0.602	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		A	61463522	C	A	61463522	3	1	22	1	0	0	0	0	1	0	0	0	3709	710	25	4	1402	4	COL9A3	20	61463522	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14589	61463522	1561998	10610	15718										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61512185	61512185	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgctgctccttccagcaGaatgaagatttcttgggtcc	11	11	1	3	rs41282984	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61512185G>C	ENST00000266070.4	-	16	5448	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1708C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1708			S -> C (in dbSNP:rs41282984).		apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTTCCAGCAGAATGAAGATT	0.652													G|||	277	0.0553115	0.1097	0.0216	5008	,	,		15522	0.0198		0.0596	False		,,,				2504	0.0378				p.S1708C	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.C5123G						PASS	.	G	CYS/SER,CYS/SER	505,3901	229.1+/-243.8	20,465,1718	58	68	64		5123,5123	1.8	0	20	dbSNP_127	64	678,7922	167.4+/-219.2	33,612,3655	yes	missense,missense	DIDO1	NM_001193369.1,NM_033081.2	112,112	53,1077,5373	CC,CG,GG		7.8837,11.4616,9.0958	possibly-damaging,possibly-damaging	1708/2241,1708/2241	61512185	1183,11823	2203	4300	6503	SO:0001583	missense	11083	exon16			CCAGCAGAATGAA	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5123C>G	20.37:g.61512185G>C	ENSP00000266070:p.Ser1708Cys	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	120	63	0.525	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	127	0.05815018315018315	53	0.10772357723577236	12	0.03314917127071823	10	0.017482517482517484	52	0.06860158311345646	G	11.14	1.550129	0.27652	0.114616	0.078837	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08896	3.04;3.04	5.31	1.8	0.24995	.	0.165815	0.28371	N	0.015596	T	0.00109	0.0003	N	0.19112	0.55	0.58432	P	5.000000000032756E-6	B	0.09022	0.002	B	0.04013	0.001	T	0.31861	-0.9928	9	0.54805	T	0.06	-0.623	4.2819	0.10836	0.4482:0.4274:0.1244:0.0	rs41282984	1708	Q9BTC0	DIDO1_HUMAN	C	1708	ENSP00000266070:S1708C;ENSP00000378752:S1708C	ENSP00000266070:S1708C	S	-	2	0	DIDO1	60982630	0.903000	0.30736	0.001000	0.08648	0.047000	0.14425	2.065000	0.41442	0.071000	0.16664	0.655000	0.94253	TCT	G|0.921;C|0.079	0.079	strong		0.652	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		C	61512185	G	C	61512185	3	2	22	1	0	0	0	0	1	0	0	0	4522	942	33	4	1603	4	DIDO1	20	61512185	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	48663	61512185	1513335	10611	15719										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61513649	61513649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggaacgtccgcttcttccGgttgaagtcgggtccgcttt	12	13	1	1	rs6011441	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61513649G>T	ENST00000266070.4	-	16	3984	c.3659C>A	c.(3658-3660)cCg>cAg	p.P1220Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1220Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1220			P -> Q (in dbSNP:rs6011441).		apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGCTTCTTCCGGTTGAAGTCG	0.512													g|||	915	0.182708	0.5295	0.0692	5008	,	,		14709	0.0238		0.0755	False		,,,				2504	0.0685				p.P1220Q	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											DIDO1,NS,carcinoma,+1,1	DIDO1	321	1	0			c.C3659A						PASS	.	G	GLN/PRO,GLN/PRO	2121,2285	573.1+/-383.5	507,1107,589	95	103	100		3659,3659	-0.3	0	20	dbSNP_114	100	815,7785	188.1+/-235.2	49,717,3534	yes	missense,missense	DIDO1	NM_001193369.1,NM_033081.2	76,76	556,1824,4123	TT,TG,GG		9.4767,48.1389,22.5742	benign,benign	1220/2241,1220/2241	61513649	2936,10070	2203	4300	6503	SO:0001583	missense	11083	exon16			TCTTCCGGTTGAA	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3659C>A	20.37:g.61513649G>T	ENSP00000266070:p.Pro1220Gln	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	356	0.163003663003663	250	0.508130081300813	29	0.08011049723756906	13	0.022727272727272728	64	0.08443271767810026	g	5.265	0.234363	0.09969	0.481389	0.094767	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07908	3.15;3.15	5.2	-0.263	0.12954	.	0.614591	0.13264	N	0.401065	T	0.00012	0.0000	N	0.00926	-1.1	0.50171	P	1.44000000000033E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	9	0.06494	T	0.89	-5.6941	15.0221	0.71637	0.0:0.0:0.5494:0.4506	rs6011441;rs60572892;rs6011441	1220	Q9BTC0	DIDO1_HUMAN	Q	1220	ENSP00000266070:P1220Q;ENSP00000378752:P1220Q	ENSP00000266070:P1220Q	P	-	2	0	DIDO1	60984094	0.094000	0.21725	0.000000	0.03702	0.003000	0.03518	0.750000	0.26334	-0.261000	0.09405	-0.527000	0.04329	CCG	A|0.000;G|0.803;T|0.197	0.197	strong		0.512	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61513649	G	T	61513649	3	4	22	1	0	0	0	0	1	0	0	0	4522	1116	39	4	3067	4	DIDO1	20	61513649	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1464	61513649	1511871	10612	15720										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61525488	61525488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaagtcttctttcttaacAgaagctgacaatttttgttt	5	6	3	2	rs112062101	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61525488A>G	ENST00000266070.4	-	12	2956	c.2631T>C	c.(2629-2631)tcT>tcC	p.S877S	DIDO1_ENST00000395340.1_Silent_p.S877S|DIDO1_ENST00000395335.2_Silent_p.S877S|DIDO1_ENST00000395343.1_Silent_p.S877S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	877					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCTTAACAGAAGCTGACA	0.517													A|||	38	0.00758786	0.0265	0.0043	5008	,	,		19309	0.0		0.0	False		,,,				2504	0.0				p.S877S	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											DIDO1,NS,carcinoma,-1,1	DIDO1	321	1	0			c.T2631C						PASS	.	A	,,,	111,4295	80.9+/-119.3	0,111,2092	102	117	112		2631,2631,2631,2631	-5	0	20	dbSNP_132	112	1,8593		0,1,4296	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,112,6388	GG,GA,AA		0.0116,2.5193,0.8615	,,,	877/2241,877/1190,877/2241,877/1190	61525488	112,12888	2203	4297	6500	SO:0001819	synonymous_variant	11083	exon12			CTTAACAGAAGCT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2631T>C	20.37:g.61525488A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	79	39	0.493671	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			A|0.994;G|0.006	0.006	strong		0.517	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		G	61525488	A	G	61525488	2	3	22	1	0	0	0	0	0	0	0	1	4522	175	7	3		3	DIDO1	20	61525488	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11839	61525488	1500032	10613	15721										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61528074	61528074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacttcttggaggcagccgtTgccgctgcaggtgccggtcc	14	13	1	0	rs910149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61528074T>C	ENST00000266070.4	-	7	2188	c.1863A>G	c.(1861-1863)gcA>gcG	p.A621A	DIDO1_ENST00000395340.1_Silent_p.A621A|DIDO1_ENST00000395335.2_Silent_p.A621A|DIDO1_ENST00000395343.1_Silent_p.A621A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	621					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCAGCCGTTGCCGCTGCAG	0.642													C|||	3375	0.673922	0.9433	0.5836	5008	,	,		16230	0.6577		0.4801	False		,,,				2504	0.59				p.A621A	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.A1863G						PASS	.	C	,,,	3793,613	253.0+/-259.1	1633,527,43	46	51	50		1863,1863,1863,1863	-1	0	20	dbSNP_86	50	4434,4166	543.3+/-384.4	1151,2132,1017	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	2784,2659,1060	CC,CT,TT		48.4419,13.9128,36.7446	,,,	621/2241,621/1190,621/2241,621/1190	61528074	8227,4779	2203	4300	6503	SO:0001819	synonymous_variant	11083	exon7			AGCCGTTGCCGCT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1863A>G	20.37:g.61528074T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	96	95	0.989583	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			T|0.366;C|0.634	0.634	strong		0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		C	61528074	T	C	61528074	2	2	22	1	0	0	0	0	0	0	0	1	4522	1799	63	2		2	DIDO1	20	61528074	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2586	61528074	1497446	10614	15722										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61538601	61538601	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcttagaaacttcattgtCgctgcggcgtgtttgaggat	13	7	1	2	rs34820000	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61538601C>T	ENST00000266070.4	-	5	1597	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	DIDO1_ENST00000354665.4_Silent_p.A424A|DIDO1_ENST00000370366.1_Silent_p.A424A|DIDO1_ENST00000370371.4_Silent_p.A424A|DIDO1_ENST00000370368.1_Silent_p.A424A|DIDO1_ENST00000395340.1_Silent_p.A424A|DIDO1_ENST00000395335.2_Silent_p.A424A|DIDO1_ENST00000395343.1_Silent_p.A424A|DIDO1_ENST00000266071.5_Silent_p.A424A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	424					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTCATTGTCGCTGCGGCGT	0.522													C|||	330	0.0658946	0.1218	0.0447	5008	,	,		18192	0.0238		0.0497	False		,,,				2504	0.0654				p.A424A	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											DIDO1_ENST00000370371,NS,carcinoma,-1,2	DIDO1	321	2	0			c.G1272A						PASS	.	C	,,,,,	535,3871	243.1+/-252.9	31,473,1699	225	216	219		1272,1272,1272,1272,1272,1272	-7.2	0.1	20	dbSNP_126	219	485,8115	140.6+/-197.1	13,459,3828	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_022105.4,NM_033081.2,NM_080796.3,NM_080797.3	,,,,,	44,932,5527	TT,TC,CC		5.6395,12.1425,7.8425	,,,,,	424/2241,424/1190,424/563,424/2241,424/563,424/1190	61538601	1020,11986	2203	4300	6503	SO:0001819	synonymous_variant	11083	exon5			CATTGTCGCTGCG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1272G>A	20.37:g.61538601C>T		Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	262	121	0.461832	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			C|0.924;T|0.076	0.076	strong		0.522	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61538601	C	T	61538601	2	4	22	1	0	0	0	0	0	0	0	1	4522	871	31	1		1	DIDO1	20	61538601	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10527	61538601	1486919	10615	15723										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61542863	61542863	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcgccctctcgcttggcGatagtggtccttcgaaaacc	10	15	1	0	rs11907248	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61542863G>A	ENST00000266070.4	-	3	427	c.102C>T	c.(100-102)atC>atT	p.I34I	DIDO1_ENST00000370368.1_Silent_p.I34I|DIDO1_ENST00000354665.4_Silent_p.I34I|DIDO1_ENST00000266071.5_Silent_p.I34I|DIDO1_ENST00000370371.4_Silent_p.I34I|DIDO1_ENST00000370366.1_Silent_p.I34I|DIDO1_ENST00000395340.1_Silent_p.I34I|DIDO1_ENST00000395335.2_Silent_p.I34I|DIDO1_ENST00000395343.1_Silent_p.I34I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	34					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGCTTGGCGATAGTGGTCC	0.637													G|||	330	0.0658946	0.1218	0.0447	5008	,	,		17396	0.0238		0.0497	False		,,,				2504	0.0654				p.I34I	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.C102T						PASS	.	G	,,,,,	535,3869	232.6+/-246.1	32,471,1699	66	67	67		102,102,102,102,102,102	-10.8	0	20	dbSNP_120	67	481,8119	136.7+/-193.7	13,455,3832	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_022105.4,NM_033081.2,NM_080796.3,NM_080797.3	,,,,,	45,926,5531	AA,AG,GG		5.593,12.148,7.813	,,,,,	34/2241,34/1190,34/563,34/2241,34/563,34/1190	61542863	1016,11988	2202	4300	6502	SO:0001819	synonymous_variant	11083	exon3			CTTGGCGATAGTG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.102C>T	20.37:g.61542863G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	183	93	0.508197	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			G|0.924;A|0.076	0.076	strong		0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61542863	G	A	61542863	2	1	22	1	0	0	0	0	0	0	0	1	4522	1048	37	1		1	DIDO1	20	61542863	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4262	61542863	1482657	10616	15724										
SLC17A9	63910	hgsc.bcm.edu	37	chr20	61598731	61598731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctacttgatggagaccaCgggctcctggacttgcctgt	13	12	0	2	rs7271712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61598731C>T	ENST00000370351.4	+	13	1321	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	SLC17A9_ENST00000370349.3_Missense_Mutation_p.T391M|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	397			T -> M (in dbSNP:rs7271712).		exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGAGACCACGGGCTCCTGG	0.642													C|||	209	0.0417332	0.0923	0.0663	5008	,	,		16280	0.0		0.0378	False		,,,				2504	0.0031				p.T397M		Atlas-SNP	.											.	SLC17A9	54	.	0			c.C1190T						PASS	.	C	MET/THR	339,3741		11,317,1712	178	189	186		1190	2.6	1	20	dbSNP_116	186	237,8167		9,219,3974	yes	missense	SLC17A9	NM_022082.3	81	20,536,5686	TT,TC,CC		2.8201,8.3088,4.6139	probably-damaging	397/437	61598731	576,11908	2040	4202	6242	SO:0001583	missense	63910	exon13			AGACCACGGGCTC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1190C>T	20.37:g.61598731C>T	ENSP00000359376:p.Thr397Met	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	238	126	0.529412	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	99	0.04532967032967033	50	0.1016260162601626	22	0.06077348066298342	0	0.0	27	0.03562005277044855	C	15.68	2.906278	0.52333	0.083088	0.028201	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60548	0.18;0.18	4.6	2.6	0.31112	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.153499	0.64402	N	0.000019	T	0.04861	0.0131	M	0.76838	2.35	0.80722	D	1	D;D	0.64830	0.968;0.994	P;P	0.55965	0.619;0.788	T	0.13098	-1.0522	10	0.59425	D	0.04	.	9.7201	0.40297	0.0:0.7804:0.1415:0.0781	rs7271712;rs52790132;rs7271712	397;391	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	397;391	ENSP00000359376:T397M;ENSP00000359374:T391M	ENSP00000359374:T391M	T	+	2	0	SLC17A9	61069176	0.991000	0.36638	0.957000	0.39632	0.822000	0.46500	2.977000	0.49297	0.451000	0.26802	0.561000	0.74099	ACG	C|0.952;T|0.048	0.048	strong		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		T	61598731	C	T	61598731	3	4	22	1	0	0	0	0	1	0	0	0	14424	536	19	1	1240	1	SLC17A9	20	61598731	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	55868	61598731	1426789	10617	15725										
YTHDF1	54915	hgsc.bcm.edu	37	chr20	61834169	61834169	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctttcgggttgtagctgtGagcagccttcagtttttcaa	10	9	3	1	rs34379989	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61834169G>A	ENST00000370339.3	-	4	1464	c.1123C>T	c.(1123-1125)Cac>Tac	p.H375Y	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.H325Y	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	375							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGTAGCTGTGAGCAGCCTTC	0.537													G|||	66	0.0131789	0.0477	0.0043	5008	,	,		18939	0.0		0.0	False		,,,				2504	0.0				p.H375Y		Atlas-SNP	.											.	YTHDF1	66	.	0			c.C1123T						PASS	.	G	TYR/HIS	145,4261	98.9+/-137.6	2,141,2060	87	89	88		1123	4.7	1	20	dbSNP_126	88	0,8600		0,0,4300	yes	missense	YTHDF1	NM_017798.3	83	2,141,6360	AA,AG,GG		0.0,3.291,1.1149	possibly-damaging	375/560	61834169	145,12861	2203	4300	6503	SO:0001583	missense	54915	exon4			AGCTGTGAGCAGC	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1123C>T	20.37:g.61834169G>A	ENSP00000359364:p.His375Tyr	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	148	66	0.445946	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	21	0.009615384615384616	20	0.04065040650406504	1	0.0027624309392265192	0	0.0	0	0.0	G	14.56	2.572951	0.45798	0.03291	0.0	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.23147	1.92;1.92	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.09512	0.0234	M	0.63428	1.95	0.58432	D	0.999999	P	0.39696	0.683	B	0.40565	0.333	T	0.06499	-1.0823	10	0.87932	D	0	-43.1736	18.0486	0.89341	0.0:0.0:1.0:0.0	rs34379989	375	Q9BYJ9	YTHD1_HUMAN	Y	375;325;191	ENSP00000359364:H375Y;ENSP00000359358:H325Y	ENSP00000339489:H191Y	H	-	1	0	YTHDF1	61304614	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.661000	0.83786	2.339000	0.79563	0.591000	0.81541	CAC	G|0.991;A|0.009	0.009	strong		0.537	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		A	61834169	G	A	61834169	3	1	22	1	0	0	0	0	1	0	0	0	17495	1290	45	2	564	2	YTHDF1	20	61834169	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	235438	61834169	1191351	10618	15726										
COL20A1	57642	hgsc.bcm.edu	37	chr20	61944193	61944193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacggagctgccaggggaTgcagtccagctggcgtgggt	18	9	0	1	rs4809530	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61944193T>C	ENST00000358894.6	+	16	2083	c.1983T>C	c.(1981-1983)gaT>gaC	p.D661D	COL20A1_ENST00000435874.1_Silent_p.D668D|COL20A1_ENST00000326996.6_Silent_p.D661D|COL20A1_ENST00000422202.1_Silent_p.D668D	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	661	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCCAGGGGATGCAGTCCAGC	0.662													C|||	323	0.0644968	0.0847	0.036	5008	,	,		15857	0.0139		0.0527	False		,,,				2504	0.1217				p.D661D		Atlas-SNP	.											.	COL20A1	137	.	0			c.T1983C						PASS	.	C		264,3616		10,244,1686	18	25	22		1983	-8.3	0	20	dbSNP_111	22	460,7782		15,430,3676	no	coding-synonymous	COL20A1	NM_020882.2		25,674,5362	CC,CT,TT		5.5812,6.8041,5.9726		661/1285	61944193	724,11398	1940	4121	6061	SO:0001819	synonymous_variant	57642	exon16			AGGGGATGCAGTC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1983T>C	20.37:g.61944193T>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	152	75	0.493421	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	CCDS46628.1																																																																																			T|0.956;C|0.044	0.044	strong		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61944193	T	C	61944193	2	2	22	1	0	0	0	0	0	0	0	1	3679	1461	51	2		2	COL20A1	20	61944193	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	110024	61944193	1081327	10619	15727										
COL20A1	57642	hgsc.bcm.edu	37	chr20	61945439	61945439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctaggtctctgtgccaggaGccaggagccacgtgacactg	13	13	1	1	rs147670144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61945439G>C	ENST00000358894.6	+	19	2474	c.2374G>C	c.(2374-2376)Gcc>Ccc	p.A792P	COL20A1_ENST00000435874.1_Missense_Mutation_p.A799P|COL20A1_ENST00000326996.6_Missense_Mutation_p.A792P|COL20A1_ENST00000422202.1_Missense_Mutation_p.A799P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	792	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTGCCAGGAGCCAGGAGCCA	0.642													C|||	321	0.0640974	0.0832	0.036	5008	,	,		18224	0.0139		0.0527	False		,,,				2504	0.1217				p.A792P		Atlas-SNP	.											.	COL20A1	137	.	0			c.G2374C						PASS	.	C	PRO/ALA	292,4010		13,266,1872	39	46	44		2374	-0.2	0.9	20	dbSNP_134	44	491,7981		17,457,3762	yes	missense	COL20A1	NM_020882.2	27	30,723,5634	CC,CG,GG		5.7956,6.7875,6.1296	benign	792/1285	61945439	783,11991	2151	4236	6387	SO:0001583	missense	57642	exon19			CCAGGAGCCAGGA	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2374G>C	20.37:g.61945439G>C	ENSP00000351767:p.Ala792Pro	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	153	74	0.48366	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	113	0.051739926739926737	39	0.07926829268292683	17	0.04696132596685083	8	0.013986013986013986	49	0.06464379947229551	C	1.915	-0.449644	0.04572	0.067875	0.057956	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.57	-0.153	0.13403	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.810534	0.10939	N	0.617427	T	0.00815	0.0027	N	0.00841	-1.15	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13176	-1.0519	9	0.27082	T	0.32	.	1.6125	0.02696	0.3773:0.3339:0.1721:0.1166	.	799;792	Q9P218-2;Q9P218	.;COKA1_HUMAN	P	792;792;799;799	ENSP00000351767:A792P;ENSP00000323077:A792P;ENSP00000408690:A799P;ENSP00000414753:A799P	ENSP00000323077:A792P	A	+	1	0	COL20A1	61415884	0.000000	0.05858	0.937000	0.37676	0.108000	0.19459	0.041000	0.13927	-0.137000	0.11455	-0.670000	0.03821	GCC	G|0.946;C|0.054	0.054	strong		0.642	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61945439	G	C	61945439	3	2	22	1	0	0	0	0	1	0	0	0	3679	971	34	4	2444	4	COL20A1	20	61945439	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1246	61945439	1080081	10620	15728										
COL20A1	57642	hgsc.bcm.edu	37	chr20	61959758	61959758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggagcagaagctggagcCgggcactgagcccctggggt	17	11	0	2	rs115749294	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61959758C>T	ENST00000358894.6	+	34	3789	c.3689C>T	c.(3688-3690)cCg>cTg	p.P1230L	COL20A1_ENST00000435874.1_Missense_Mutation_p.P1243L|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1262L|COL20A1_ENST00000422202.1_Missense_Mutation_p.P1243L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1230				P -> Q (in Ref. 2; AAH43183). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AAGCTGGAGCCGGGCACTGAG	0.662													C|||	37	0.00738818	0.028	0.0	5008	,	,		15679	0.0		0.0	False		,,,				2504	0.0				p.P1230L		Atlas-SNP	.											.	COL20A1	137	.	0			c.C3689T						PASS	.	C	LEU/PRO	92,3808		1,90,1859	26	31	29		3689	1.2	0	20	dbSNP_132	29	4,8234		0,4,4115	yes	missense	COL20A1	NM_020882.2	98	1,94,5974	TT,TC,CC		0.0486,2.359,0.7909	benign	1230/1285	61959758	96,12042	1950	4119	6069	SO:0001583	missense	57642	exon34			TGGAGCCGGGCAC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3689C>T	20.37:g.61959758C>T	ENSP00000351767:p.Pro1230Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	131	75	0.572519	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	4.851	0.158169	0.09236	0.02359	4.86E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.22;-2.18;-2.14;-2.14;-2.75;-2.59	3.37	1.25	0.21368	.	0.343274	0.25598	N	0.029561	T	0.56848	0.2013	N	0.12746	0.255	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.58983	-0.7539	10	0.35671	T	0.21	.	5.6298	0.17504	0.0:0.6946:0.0:0.3054	.	1243;1230	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	1230;1262;1243;1243;371;226	ENSP00000351767:P1230L;ENSP00000323077:P1262L;ENSP00000408690:P1243L;ENSP00000414753:P1243L;ENSP00000410799:P371L;ENSP00000406345:P226L	ENSP00000323077:P1262L	P	+	2	0	COL20A1	61430202	0.006000	0.16342	0.001000	0.08648	0.097000	0.18754	0.478000	0.22212	0.356000	0.24157	0.313000	0.20887	CCG	C|0.995;T|0.005	0.005	strong		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61959758	C	T	61959758	3	4	22	1	0	0	0	0	1	0	0	0	3679	652	23	1	3761	1	COL20A1	20	61959758	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14319	61959758	1065762	10621	15729										
COL20A1	57642	hgsc.bcm.edu	37	chr20	61960961	61960961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggagctgttggtcagaTgggcagccctgggcagcagg	18	10	1	1	rs6011740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61960961T>C	ENST00000358894.6	+	35	3906	c.3806T>C	c.(3805-3807)aTg>aCg	p.M1269T	COL20A1_ENST00000435874.1_Missense_Mutation_p.M1282T|COL20A1_ENST00000326996.6_Missense_Mutation_p.M1301T|COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000422202.1_Missense_Mutation_p.M1282T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1269					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTTGGTCAGATGGGCAGCCCT	0.652													C|||	244	0.048722	0.1611	0.0072	5008	,	,		18080	0.0		0.0	False		,,,				2504	0.0266				p.M1269T		Atlas-SNP	.											.	COL20A1	137	.	0			c.T3806C						PASS	.	C	THR/MET	497,3519		37,423,1548	28	33	32		3806	-4.9	0	20	dbSNP_114	32	5,8331		0,5,4163	yes	missense	COL20A1	NM_020882.2	81	37,428,5711	CC,CT,TT		0.06,12.3755,4.0641	benign	1269/1285	61960961	502,11850	2008	4168	6176	SO:0001583	missense	57642	exon35			GTCAGATGGGCAG	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3806T>C	20.37:g.61960961T>C	ENSP00000351767:p.Met1269Thr	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	31	14	0.451613	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	72	0.03296703296703297	70	0.14227642276422764	2	0.0055248618784530384	0	0.0	0	0.0	C	0.007	-1.963878	0.00461	0.123755	6.0E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.85955	-2.02;-2.05;-2.02;-2.02	3.15	-4.86	0.03132	.	3.567220	0.01372	N	0.012620	T	0.00695	0.0023	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27502	-1.0072	9	0.19147	T	0.46	.	1.7705	0.03010	0.1455:0.2136:0.1439:0.497	rs6011740;rs6011740	1282;1269	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1269;1301;1282;1282	ENSP00000351767:M1269T;ENSP00000323077:M1301T;ENSP00000408690:M1282T;ENSP00000414753:M1282T	ENSP00000323077:M1301T	M	+	2	0	COL20A1	61431405	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-3.643000	0.00405	-1.192000	0.02691	-0.642000	0.03964	ATG	T|0.949;C|0.051	0.051	strong		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61960961	T	C	61960961	3	2	22	1	0	0	0	0	1	0	0	0	3679	1464	51	2	3882	2	COL20A1	20	61960961	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1203	61960961	1064559	10622	15730										
CHRNA4	1137	hgsc.bcm.edu	37	chr20	61990939	61990939	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggacaggccgaagcggacGaggaccacgtccgagatgtt	15	10	0	1	rs2273506	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:61990939G>A	ENST00000370263.4	-	2	410	c.189C>T	c.(187-189)ctC>ctT	p.L63L	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	63					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGAAGCGGACGAGGACCACGT	0.637													G|||	571	0.114018	0.1354	0.0634	5008	,	,		16883	0.0992		0.0646	False		,,,				2504	0.1871				p.L63L		Atlas-SNP	.											.	CHRNA4	98	.	0			c.C189T						PASS	.	G		600,3794	258.6+/-262.5	43,514,1640	124	101	109		189	-8.5	0.5	20	dbSNP_100	109	602,7982	158.3+/-211.8	24,554,3714	yes	coding-synonymous	CHRNA4	NM_000744.5		67,1068,5354	AA,AG,GG		7.013,13.655,9.2618		63/628	61990939	1202,11776	2197	4292	6489	SO:0001819	synonymous_variant	1137	exon2			GCGGACGAGGACC		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.189C>T	20.37:g.61990939G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_000744	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																			G|0.910;A|0.090	0.090	strong		0.637	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			A	61990939	G	A	61990939	2	1	22	1	0	0	0	0	0	0	0	1	3385	1045	37	1		1	CHRNA4	20	61990939	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29978	61990939	1034581	10623	15731										
KCNQ2	3785	hgsc.bcm.edu	37	chr20	62078184	62078184	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgaggcaggagaaaaccagGaggaacctgggggcagggaa	18	7	0	1	rs145415996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62078184G>C	ENST00000359125.2	-	2	477	c.303C>G	c.(301-303)ctC>ctG	p.L101L	KCNQ2_ENST00000359689.1_Silent_p.L101L|KCNQ2_ENST00000357249.2_Silent_p.L101L|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000360480.3_Silent_p.L101L|KCNQ2_ENST00000344462.4_Silent_p.L101L|KCNQ2_ENST00000354587.3_Silent_p.L101L|KCNQ2_ENST00000344425.5_Silent_p.L101L|KCNQ2_ENST00000370224.1_Silent_p.L101L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	101					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGAAAACCAGGAGGAACCTGG	0.632													G|||	7	0.00139776	0.0053	0.0	5008	,	,		11541	0.0		0.0	False		,,,				2504	0.0				p.L101L		Atlas-SNP	.											.	KCNQ2	201	.	0			c.C303G						PASS	.	G	,,,,	22,4384	29.0+/-57.7	0,22,2181	80	75	77		303,303,303,303,303	0.6	1	20	dbSNP_134	77	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ2	NM_004518.4,NM_172106.1,NM_172107.2,NM_172108.3,NM_172109.1	,,,,	0,24,6479	CC,CG,GG		0.0233,0.4993,0.1845	,,,,	101/845,101/855,101/873,101/842,101/394	62078184	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3785	exon2			AACCAGGAGGAAC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.303C>G	20.37:g.62078184G>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	91	39	0.428571	NM_172106	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																			G|0.998;C|0.002	0.002	strong		0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		C	62078184	G	C	62078184	2	2	22	1	0	0	0	0	0	0	0	1	8083	1161	41	4		4	KCNQ2	20	62078184	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	87245	62078184	947336	10624	15732										
EEF1A2	1917	hgsc.bcm.edu	37	chr20	62119717	62119717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcgccgccgctcttcttCtccacgttcttgatgacgcc	9	18	4	2	rs1042796	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62119717C>T	ENST00000298049.7	-	7	1396	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	EEF1A2_ENST00000217182.3_Silent_p.E442E			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	442					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCTCTTCTTCTCCACGTTCT	0.746													c|||	399	0.0796725	0.1415	0.0115	5008	,	,		4527	0.002		0.0	False		,,,				2504	0.2065				p.E442E		Atlas-SNP	.											.	EEF1A2	60	.	0			c.G1326A						PASS	.			389,3539		15,359,1590	8	7	7		1326	2	1	20	dbSNP_86	7	5,7783		0,5,3889	no	coding-synonymous	EEF1A2	NM_001958.2		15,364,5479	TT,TC,CC		0.0642,9.9033,3.3629		442/464	62119717	394,11322	1964	3894	5858	SO:0001819	synonymous_variant	1917	exon8			CTTCTTCTCCACG	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1326G>A	20.37:g.62119717C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	6	0.222222	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																			C|0.966;T|0.034	0.034	strong		0.746	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62119717	C	T	62119717	2	4	22	1	0	0	0	0	0	0	0	1	4924	912	32	2		2	EEF1A2	20	62119717	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	41533	62119717	905803	10625	15733										
EEF1A2	1917	hgsc.bcm.edu	37	chr20	62126185	62126185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagggctccagcatgttgtcAccgtgccagccggagatggg	16	11	1	1	rs310617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62126185A>G	ENST00000298049.7	-	3	664	c.594T>C	c.(592-594)ggT>ggC	p.G198G	EEF1A2_ENST00000217182.3_Silent_p.G198G			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	198	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCATGTTGTCACCGTGCCAGC	0.672													G|||	2963	0.591653	0.59	0.5029	5008	,	,		14466	0.6181		0.5934	False		,,,				2504	0.6278				p.G198G		Atlas-SNP	.											EEF1A2,NS,carcinoma,0,3	EEF1A2	60	3	0			c.T594C						PASS	.	G		2603,1785	624.9+/-394.4	770,1063,361	37	31	33		594	-7.8	0.1	20	dbSNP_79	33	4849,3747	606.6+/-395.1	1394,2061,843	no	coding-synonymous	EEF1A2	NM_001958.2		2164,3124,1204	GG,GA,AA		43.59,40.6791,42.6063		198/464	62126185	7452,5532	2194	4298	6492	SO:0001819	synonymous_variant	1917	exon4			GTTGTCACCGTGC	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.594T>C	20.37:g.62126185A>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	51	50	0.980392	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																			A|0.419;G|0.581	0.581	strong		0.672	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		G	62126185	A	G	62126185	2	3	22	1	0	0	0	0	0	0	0	1	4924	146	6	2		2	EEF1A2	20	62126185	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6468	62126185	899335	10626	15734										
PTK6	5753	hgsc.bcm.edu	37	chr20	62166313	62166313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaggacgtagtcggcactCggcttctcgctgaccctgat	12	13	1	2	rs310640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62166313C>T	ENST00000217185.2	-	2	357	c.330G>A	c.(328-330)ccG>ccA	p.P110P	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	110	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	AGTCGGCACTCGGCTTCTCGC	0.692													c|||	583	0.116414	0.3638	0.0562	5008	,	,		15105	0.0139		0.0268	False		,,,				2504	0.0225				p.P110P		Atlas-SNP	.											.	PTK6	33	.	0			c.G330A						PASS	.			1378,2998		220,938,1030	15	18	17		330	-6	0	20	dbSNP_79	17	166,8408		2,162,4123	no	coding-synonymous	PTK6	NM_005975.2		222,1100,5153	TT,TC,CC		1.9361,31.4899,11.9228		110/452	62166313	1544,11406	2188	4287	6475	SO:0001819	synonymous_variant	5753	exon2			GGCACTCGGCTTC	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.330G>A	20.37:g.62166313C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_005975	B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	CCDS13524.1																																																																																			C|0.869;T|0.131	0.131	strong		0.692	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			T	62166313	C	T	62166313	2	4	22	1	0	0	0	0	0	0	0	1	12764	871	31	1		1	PTK6	20	62166313	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40128	62166313	859207	10627	15735										
SRMS	6725	hgsc.bcm.edu	37	chr20	62172269	62172269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcactccagcatgagcaCgtagacctccgccgggcagg	12	16	0	2	rs310654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62172269C>A	ENST00000217188.1	-	8	1409	c.1369G>T	c.(1369-1371)Gtg>Ttg	p.V457L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> L (in dbSNP:rs310654). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCATGAGCACGTAGACCTCC	0.692													C|||	801	0.159944	0.4758	0.0793	5008	,	,		16427	0.0238		0.0606	False		,,,				2504	0.0327				p.V457L		Atlas-SNP	.											.	SRMS	48	.	0			c.G1369T						PASS	.	C	LEU/VAL	1733,2671	506.2+/-366.3	337,1059,806	79	79	79		1369	-4.5	0	20	dbSNP_79	79	436,8162	131.5+/-189.3	8,420,3871	yes	missense	SRMS	NM_080823.2	32	345,1479,4677	AA,AC,CC		5.0709,39.3506,16.682	benign	457/489	62172269	2169,10833	2202	4299	6501	SO:0001583	missense	6725	exon8			TGAGCACGTAGAC		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1369G>T	20.37:g.62172269C>A	ENSP00000217188:p.Val457Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	84	83	0.988095	NM_080823		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	326	0.14926739926739926	237	0.4817073170731707	24	0.06629834254143646	18	0.03146853146853147	47	0.06200527704485488	C	7.992	0.753556	0.15778	0.393506	0.050709	ENSG00000125508	ENST00000217188	T	0.10860	2.83	4.96	-4.53	0.03462	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	2.105440	0.02316	N	0.072531	T	0.00012	0.0000	N	0.02111	-0.68	0.80722	P	0.0	B	0.06786	0.001	B	0.10450	0.005	T	0.47114	-0.9142	9	0.72032	D	0.01	.	7.8857	0.29648	0.1131:0.2898:0.0:0.5971	rs310654;rs311538;rs1757732;rs61110786;rs310654	457	Q9H3Y6	SRMS_HUMAN	L	457	ENSP00000217188:V457L	ENSP00000217188:V457L	V	-	1	0	SRMS	61642713	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.265000	0.00263	-1.399000	0.02063	-0.136000	0.14681	GTG	C|0.822;A|0.178	0.178	strong		0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		A	62172269	C	A	62172269	3	1	22	1	0	0	0	0	1	0	0	0	15151	536	19	4	101	4	SRMS	20	62172269	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5956	62172269	853251	10628	15736										
SRMS	6725	hgsc.bcm.edu	37	chr20	62172281	62172281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgagcacgtagacctccgCcgggcaggcagccgggcgcg	16	15	0	2	rs310655	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62172281C>T	ENST00000217188.1	-	8	1397	c.1357G>A	c.(1357-1359)Gcg>Acg	p.A453T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs310655). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TAGACCTCCGCCGGGCAGGCA	0.692													C|||	1058	0.211262	0.4387	0.0749	5008	,	,		16230	0.0327		0.0616	False		,,,				2504	0.3384				p.A453T		Atlas-SNP	.											.	SRMS	48	.	0			c.G1357A						PASS	.	C	THR/ALA	1589,2813	472.2+/-356.3	281,1027,893	63	66	65		1357	2.1	0	20	dbSNP_79	65	460,8134	133.5+/-191.0	10,440,3847	yes	missense	SRMS	NM_080823.2	58	291,1467,4740	TT,TC,CC		5.3526,36.0972,15.7664	benign	453/489	62172281	2049,10947	2201	4297	6498	SO:0001583	missense	6725	exon8			CCTCCGCCGGGCA		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1357G>A	20.37:g.62172281C>T	ENSP00000217188:p.Ala453Thr	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	89	86	0.966292	NM_080823		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	313	0.1433150183150183	221	0.4491869918699187	24	0.06629834254143646	20	0.03496503496503497	48	0.0633245382585752	C	6.541	0.468081	0.12461	0.360972	0.053526	ENSG00000125508	ENST00000217188	D	0.82803	-1.65	5.17	2.06	0.26882	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.476218	0.19288	N	0.117983	T	0.00012	0.0000	L	0.31526	0.94	0.80722	P	0.0	B	0.19200	0.034	B	0.17979	0.02	T	0.31166	-0.9953	9	0.41790	T	0.15	.	7.6184	0.28171	0.0:0.602:0.214:0.1841	rs310655;rs311539;rs1757733;rs57083542;rs310655	453	Q9H3Y6	SRMS_HUMAN	T	453	ENSP00000217188:A453T	ENSP00000217188:A453T	A	-	1	0	SRMS	61642725	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.099000	0.15210	0.596000	0.29794	-0.768000	0.03414	GCG	C|0.826;T|0.174	0.174	strong		0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		T	62172281	C	T	62172281	3	4	22	1	0	0	0	0	1	0	0	0	15151	739	26	2	113	2	SRMS	20	62172281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	62172281	853239	10629	15737										
SRMS	6725	hgsc.bcm.edu	37	chr20	62173561	62173561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcgcatgagttccgtgaCgatgtacacaggctccccgc	11	14	0	2	rs310657	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62173561C>G	ENST00000217188.1	-	5	941	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> L (in dbSNP:rs310657). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGTTCCGTGACGATGTACACA	0.677													C|||	579	0.115615	0.3608	0.0576	5008	,	,		16696	0.0139		0.0258	False		,,,				2504	0.0225				p.V301L		Atlas-SNP	.											SRMS,NS,carcinoma,+2,1	SRMS	48	1	0			c.G901C						PASS	.	C	LEU/VAL	1389,3009	452.2+/-349.9	215,959,1025	96	76	83		901	4.6	1	20	dbSNP_79	83	166,8434	77.5+/-140.1	0,166,4134	yes	missense	SRMS	NM_080823.2	32	215,1125,5159	GG,GC,CC		1.9302,31.5825,11.9634	probably-damaging	301/489	62173561	1555,11443	2199	4300	6499	SO:0001583	missense	6725	exon5			CCGTGACGATGTA		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.901G>C	20.37:g.62173561C>G	ENSP00000217188:p.Val301Leu	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	193	192	0.994819	NM_080823		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	235	0.10760073260073261	192	0.3902439024390244	16	0.04419889502762431	10	0.017482517482517484	17	0.022427440633245383	C	17.54	3.416230	0.62511	0.315825	0.019302	ENSG00000125508	ENST00000217188	D	0.87179	-2.22	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124501	0.35936	N	0.002882	T	0.00012	0.0000	L	0.53780	1.695	0.31636	P	0.648475	B	0.33549	0.417	P	0.45377	0.478	T	0.01706	-1.1291	9	0.87932	D	0	.	12.0155	0.53311	0.0:0.9126:0.0:0.0873	rs310657;rs311541;rs1757734;rs58635261;rs310657	301	Q9H3Y6	SRMS_HUMAN	L	301	ENSP00000217188:V301L	ENSP00000217188:V301L	V	-	1	0	SRMS	61644005	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	1.512000	0.35812	2.120000	0.65058	0.561000	0.74099	GTC	C|0.889;G|0.111	0.111	strong		0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		G	62173561	C	G	62173561	3	3	22	1	0	0	0	0	1	0	0	0	15151	536	19	4	581	4	SRMS	20	62173561	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1280	62173561	851959	10630	15738										
SRMS	6725	hgsc.bcm.edu	37	chr20	62173925	62173925	+	Silent	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgctcccacacgtcctgccTcggggccttctgcagggagg					rs404613|rs386816161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62173925T>G	ENST00000217188.1	-	4	695	c.655A>C	c.(655-657)Agg>Cgg	p.R219R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	219					peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R219R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTCCTGCCTCGGGGCCTTC	0.692													G|||	1839	0.367212	0.9516	0.1254	5008	,	,		15383	0.0327		0.0686	False		,,,				2504	0.4008				p.R219R		Atlas-SNP	.											SRMS,NS,lymphoid_neoplasm,0,1	SRMS	48	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.A655C						PASS	.	G		3387,1011		1379,629,191	33	37	36		655	1.4	0	20	dbSNP_80	36	436,8160		14,408,3876	yes	coding-synonymous	SRMS	NM_080823.2		1393,1037,4067	GG,GT,TT		5.0721,22.9877,29.4213		219/489	62173925	3823,9171	2199	4298	6497	SO:0001819	synonymous_variant	6725	exon4			CCTGCCTCGGGGC		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.655A>C	20.37:g.62173925T>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	143	141	0.986014	NM_080823		Silent	SNP	ENST00000217188.1	37	CCDS13525.1																																																																																			T|0.680;G|0.320	0.320	strong		0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		G	62173925	T	G	62173925	2	3	22	1	0	0	0	0	0	0	0	1	15151	1550	54	5		5	SRMS	20	62173925	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	364	62173925	851595	10631	15739	334	2								
SRMS	6725	hgsc.bcm.edu	37	chr20	62173927	62173927	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccacacgtcctgcctcGgggccttctgcagggagggt					rs378483|rs386816161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62173927G>A	ENST00000217188.1	-	4	693	c.653C>T	c.(652-654)cCg>cTg	p.P218L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	218			P -> L (in dbSNP:rs378483).		peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P218L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTCCTGCCTCGGGGCCTTCTG	0.697													G|||	747	0.149161	0.438	0.0749	5008	,	,		15261	0.0238		0.0606	False		,,,				2504	0.0317				p.P218L		Atlas-SNP	.											SRMS,NS,lymphoid_neoplasm,0,1	SRMS	48	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C653T						PASS	.	G	LEU/PRO	1335,3063		274,787,1138	32	34	33		653	-8.5	0	20	dbSNP_80	33	335,8261		8,319,3971	no	missense	SRMS	NM_080823.2	98	282,1106,5109	AA,AG,GG		3.8972,30.3547,12.8521	benign	218/489	62173927	1670,11324	2199	4298	6497	SO:0001583	missense	6725	exon4			TGCCTCGGGGCCT		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.653C>T	20.37:g.62173927G>A	ENSP00000217188:p.Pro218Leu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_080823		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	309	0.14148351648351648	220	0.44715447154471544	24	0.06629834254143646	18	0.03146853146853147	47	0.06200527704485488	G	10.88	1.475066	0.26511	0.303547	0.038972	ENSG00000125508	ENST00000217188	T	0.76578	-1.03	4.47	-8.54	0.00912	Protein kinase-like domain (1);SH2 motif (1);	0.887861	0.09553	N	0.786625	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15930	0.015	B	0.09377	0.004	T	0.22243	-1.0222	9	0.35671	T	0.21	.	2.2127	0.03952	0.4352:0.0925:0.2866:0.1858	rs378483;rs1757737	218	Q9H3Y6	SRMS_HUMAN	L	218	ENSP00000217188:P218L	ENSP00000217188:P218L	P	-	2	0	SRMS	61644371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.815000	0.04481	-1.674000	0.01461	-1.036000	0.02392	CCG	G|0.845;A|0.155	0.155	strong		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		A	62173927	G	A	62173927	3	1	22	1	0	0	0	0	1	0	0	0	15151	1116	39	1	833	1	SRMS	20	62173927	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	62173927	851593	10632	15740	334	2								
PRIC285	85441	hgsc.bcm.edu	37	chr20	62197370	62197370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagacactgtgccgctccacGcactcacggatgaagctctc	9	16	2	2	rs34830600	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62197370G>A	ENST00000467148.1	-	8	2874	c.2805C>T	c.(2803-2805)tgC>tgT	p.C935C	HELZ2_ENST00000427522.2_Silent_p.C366C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	935	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCGCTCCACGCACTCACGGA	0.701													G|||	944	0.188498	0.438	0.1383	5008	,	,		17201	0.0317		0.0676	False		,,,				2504	0.1728				p.C935C		Atlas-SNP	.											.	.	.	.	0			c.C2805T						PASS	.	G	,	1573,2777		291,991,893	17	16	16		2805,1098	-2.1	0.1	20	dbSNP_126	16	633,7943		22,589,3677	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	313,1580,4570	AA,AG,GG		7.3811,36.1609,17.0664	,	935/2650,366/2081	62197370	2206,10720	2175	4288	6463	SO:0001819	synonymous_variant	85441	exon9			CTCCACGCACTCA	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2805C>T	20.37:g.62197370G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	36	21	0.583333	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			G|0.827;A|0.173	0.173	strong		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62197370	G	A	62197370	2	1	22	1	0	0	0	0	0	0	0	1	12485	1079	38	1		1	PRIC285	20	62197370	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23443	62197370	828150	10633	15741										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62198686	62198686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccagcggggtgagggcctcGcactccagcatctgggccgc	16	15	1	1	rs3827025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62198686G>A	ENST00000467148.1	-	6	2094	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	HELZ2_ENST00000427522.2_Silent_p.C106C|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	675	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGAGGGCCTCGCACTCCAGCA	0.687													G|||	1088	0.217252	0.5439	0.1427	5008	,	,		14601	0.0317		0.0686	False		,,,				2504	0.1728				p.C675C		Atlas-SNP	.											.	.	.	.	0			c.C2025T						PASS	.	G	,	1869,2437		420,1029,704	14	17	16		2025,318	-6.2	1	20	dbSNP_107	16	626,7848		29,568,3640	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	449,1597,4344	AA,AG,GG		7.3873,43.4046,19.5227	,	675/2650,106/2081	62198686	2495,10285	2153	4237	6390	SO:0001819	synonymous_variant	85441	exon7			GGCCTCGCACTCC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2025C>T	20.37:g.62198686G>A		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	28	13	0.464286	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			G|0.823;A|0.177	0.177	strong		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62198686	G	A	62198686	2	1	22	1	0	0	0	0	0	0	0	1	12485	1079	38	1		1	PRIC285	20	62198686	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1316	62198686	826834	10634	15742										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62198713	62198713	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcatctgggccgcctcatcGatgagaatgtgggagaagaa	14	8	2	3	rs3810490	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62198713G>A	ENST00000467148.1	-	6	2067	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	HELZ2_ENST00000427522.2_Silent_p.I97I|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	666	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCGCCTCATCGATGAGAATGT	0.697													G|||	899	0.179513	0.4054	0.1369	5008	,	,		15559	0.0317		0.0666	False		,,,				2504	0.1728				p.I666I		Atlas-SNP	.											.	.	.	.	0			c.C1998T						PASS	.	G	,	1404,2904		233,938,983	14	17	16		1998,291	-7.9	0.7	20	dbSNP_107	16	611,7903		15,581,3661	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	248,1519,4644	AA,AG,GG		7.1764,32.5905,15.7152	,	666/2650,97/2081	62198713	2015,10807	2154	4257	6411	SO:0001819	synonymous_variant	85441	exon7			CTCATCGATGAGA	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1998C>T	20.37:g.62198713G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			G|0.846;A|0.154	0.154	strong		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62198713	G	A	62198713	2	1	22	1	0	0	0	0	0	0	0	1	12485	1048	37	1		1	PRIC285	20	62198713	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27	62198713	826807	10635	15743										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62200738	62200738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcctcagggtggccgagcGccagattcctgcagggtcct	13	14	2	1	rs6089924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62200738G>A	ENST00000467148.1	-	4	920	c.851C>T	c.(850-852)gCg>gTg	p.A284V	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	284					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGGCCGAGCGCCAGATTCCT	0.692													G|||	922	0.184105	0.4228	0.1369	5008	,	,		15348	0.0317		0.0676	False		,,,				2504	0.1718				p.A284V		Atlas-SNP	.											.	.	.	.	0			c.C851T						PASS	.	G	VAL/ALA	1573,2809		289,995,907	19	22	21		851	-7.4	0	20	dbSNP_114	21	636,7956		18,600,3678	yes	missense	PRIC285	NM_001037335.2	64	307,1595,4585	AA,AG,GG		7.4022,35.8969,17.0264	benign	284/2650	62200738	2209,10765	2191	4296	6487	SO:0001583	missense	85441	exon5			CCGAGCGCCAGAT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.851C>T	20.37:g.62200738G>A	ENSP00000417401:p.Ala284Val	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	56	35	0.625	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	329	0.15064102564102563	207	0.42073170731707316	46	0.1270718232044199	26	0.045454545454545456	50	0.06596306068601583	G	0.636	-0.815403	0.02776	0.358969	0.074022	ENSG00000130589	ENST00000467148	T	0.21543	2.0	3.69	-7.38	0.01407	.	1.940130	0.02154	N	0.058273	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.37478	-0.9704	9	0.35671	T	0.21	-4.376	0.3965	0.00419	0.1827:0.2367:0.3342:0.2464	rs6089924	284	Q9BYK8	PR285_HUMAN	V	284	ENSP00000417401:A284V	ENSP00000417401:A284V	A	-	2	0	RP4-697K14.7	61671182	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.034000	0.03567	-1.757000	0.01316	-0.440000	0.05779	GCG	G|0.836;A|0.164	0.164	strong		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200738	G	A	62200738	3	1	22	1	0	0	0	0	1	0	0	0	12485	1087	38	1	7185	1	PRIC285	20	62200738	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2025	62200738	824782	10636	15744										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62200929	62200929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggaagcgctcaccccgtgcGtagagccggcctggcgggag	17	14	1	1	rs6089925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62200929G>A	ENST00000467148.1	-	4	729	c.660C>T	c.(658-660)taC>taT	p.Y220Y	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	220					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CACCCCGTGCGTAGAGCCGGC	0.677													G|||	931	0.185903	0.4304	0.1383	5008	,	,		15912	0.0317		0.0676	False		,,,				2504	0.1697				p.Y220Y		Atlas-SNP	.											.	.	.	.	0			c.C660T						PASS	.	G		1525,2809		274,977,916	12	13	13		660	-4.7	0	20	dbSNP_114	13	621,7927		23,575,3676	no	coding-synonymous	PRIC285	NM_001037335.2		297,1552,4592	AA,AG,GG		7.2649,35.1869,16.6589		220/2650	62200929	2146,10736	2167	4274	6441	SO:0001819	synonymous_variant	85441	exon5			CCGTGCGTAGAGC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.660C>T	20.37:g.62200929G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	73	43	0.589041	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			G|0.847;A|0.153	0.153	strong		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200929	G	A	62200929	2	1	22	1	0	0	0	0	0	0	0	1	12485	1140	40	1		1	PRIC285	20	62200929	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	191	62200929	824591	10637	15745										
SLC2A4RG	56731	hgsc.bcm.edu	37	chr20	62374096	62374096	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagccgcagcccacggaggtCggagcctgcccacccgcctt	13	18	0	0	rs7996	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62374096C>T	ENST00000266077.2	+	7	1057	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	RP4-583P15.10_ENST00000433905.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCACGGAGGTCGGAGCCTGCC	0.716													C|||	197	0.0393371	0.1407	0.0115	5008	,	,		9403	0.001		0.002	False		,,,				2504	0.0				p.V335V		Atlas-SNP	.											.	SLC2A4RG	20	.	0			c.C1005T						PASS	.	C		498,3864		21,456,1704	11	13	12		1005	2.4	0	20	dbSNP_52	12	5,8553		0,5,4274	no	coding-synonymous	SLC2A4RG	NM_020062.3		21,461,5978	TT,TC,CC		0.0584,11.4168,3.8932		335/388	62374096	503,12417	2181	4279	6460	SO:0001819	synonymous_variant	56731	exon7			GGAGGTCGGAGCC	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"GLUT4 enhancer factor", "Huntington's disease gene regulatory region-binding protein 1"	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1005C>T	20.37:g.62374096C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	57	30	0.526316	NM_020062	Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	CCDS13537.1																																																																																			C|0.956;T|0.044	0.044	strong		0.716	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		T	62374096	C	T	62374096	2	4	22	1	0	0	0	0	0	0	0	1	14547	871	31	1		1	SLC2A4RG	20	62374096	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	173167	62374096	651424	10638	15746										
C20orf201	198437	hgsc.bcm.edu	37	chr20	62714783	62714783	+	3'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgcgtcgcacactctcagtCgccgtcaccgcgggaagatg	13	15	2	1	rs6010717	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62714783C>G	ENST00000302096.4	-	0	729				OPRL1_ENST00000349451.3_5'Flank|OPRL1_ENST00000355631.4_Intron|C20orf201_ENST00000308906.2_Silent_p.A226A|OPRL1_ENST00000336866.2_Intron			Q8TD35	LKAM1_HUMAN																			CACTCTCAGTCGCCGTCACCG	0.647													C|||	3128	0.624601	0.6422	0.6628	5008	,	,		12748	0.7093		0.6531	False		,,,				2504	0.4571				p.A226A		Atlas-SNP	.											C20orf201,NS,carcinoma,0,1	C20orf201	4	1	0			c.G678C						scavenged	.	C	,,	2796,1604		875,1046,279	21	23	22		,678,	1.4	0	20	dbSNP_114	22	5362,3220		1675,2012,604	no	intron,coding-synonymous,intron	OPRL1,C20orf201	NM_000913.4,NM_001007125.1,NM_182647.2	,,	2550,3058,883	GG,GC,CC		37.5204,36.4545,37.1591	,,	,226/241,	62714783	8158,4824	2200	4291	6491	SO:0001624	3_prime_UTR_variant	198437	exon2			CTCAGTCGCCGTC																												ENST00000302096.4:c.*5G>C	20.37:g.62714783C>G		Somatic	39	1	0.025641		WXS	Illumina HiSeq	Phase_I	68	31	0.455882	NM_001007125	Q8N419|Q8TD36	Silent	SNP	ENST00000302096.4	37																																																																																				C|0.368;G|0.632	0.632	strong		0.647	C20orf201-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000080270.2			G	62714783	C	G	62714783	1	3	22	0	1	0	0	0	0	0	0	0	2104	871	31	4		4	C20orf201	20	62714783	3'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	340687	62714783	310737	10639	15747										
OPRL1	4987	hgsc.bcm.edu	37	chr20	62729272	62729272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctcctgggcttctggccGtttgggaatgcgctgtgcaa	13	11	1	0	rs61742883	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62729272G>A	ENST00000349451.3	+	5	763	c.351G>A	c.(349-351)ccG>ccA	p.P117P	OPRL1_ENST00000355631.4_Silent_p.P117P|OPRL1_ENST00000336866.2_Silent_p.P117P	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	117					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCTTCTGGCCGTTTGGGAATG	0.542													G|||	95	0.0189696	0.062	0.0159	5008	,	,		21303	0.0		0.002	False		,,,				2504	0.0				p.P117P		Atlas-SNP	.											.	OPRL1	47	.	0			c.G351A						PASS	.	G	,,	215,4191	129.8+/-166.5	5,205,1993	173	152	159		351,351,351	-9.5	0.8	20	dbSNP_129	159	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	5,212,6286	AA,AG,GG		0.0814,4.8797,1.7069	,,	117/371,117/371,117/371	62729272	222,12784	2203	4300	6503	SO:0001819	synonymous_variant	4987	exon3			CTGGCCGTTTGGG		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.351G>A	20.37:g.62729272G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	192	94	0.489583	NM_000913	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																			G|0.982;A|0.018	0.018	strong		0.542	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		A	62729272	G	A	62729272	2	1	22	1	0	0	0	0	0	0	0	1	10886	1132	40	1		1	OPRL1	20	62729272	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14489	62729272	296248	10640	15748										
OPRL1	4987	hgsc.bcm.edu	37	chr20	62729843	62729843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actcggctggtgctggtggtAgtggctgtgttcgtgggctg	19	7	0	0	rs34874539	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62729843A>G	ENST00000349451.3	+	6	1216	c.804A>G	c.(802-804)gtA>gtG	p.V268V	OPRL1_ENST00000355631.4_Silent_p.V268V|OPRL1_ENST00000336866.2_Silent_p.V268V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	268					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCTGGTGGTAGTGGCTGTGT	0.672													G|||	99	0.0197684	0.0719	0.0058	5008	,	,		16073	0.0		0.0	False		,,,				2504	0.0				p.V268V		Atlas-SNP	.											.	OPRL1	47	.	0			c.A804G						PASS	.		,,	263,4139	793.7+/-415.2	9,245,1947	70	63	65		804,804,804	1	1	20	dbSNP_126	65	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	9,246,6243	GG,GA,AA		0.0116,5.9746,2.0314	,,	268/371,268/371,268/371	62729843	264,12732	2201	4297	6498	SO:0001819	synonymous_variant	4987	exon4			GGTGGTAGTGGCT		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.804A>G	20.37:g.62729843A>G		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	224	114	0.508929	NM_000913	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																			A|0.979;G|0.021	0.021	strong		0.672	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		G	62729843	A	G	62729843	2	3	22	1	0	0	0	0	0	0	0	1	10886	407	15	3		3	OPRL1	20	62729843	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	571	62729843	295677	10641	15749										
MYT1	4661	hgsc.bcm.edu	37	chr20	62871232	62871232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggccctcatccaaagtctCgccaatatccgccttccgca	6	18	2	0	rs3003149	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr20:62871232C>T	ENST00000328439.1	+	22	3577	c.3213C>T	c.(3211-3213)ctC>ctT	p.L1071L	MYT1_ENST00000536311.1_Silent_p.L1098L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCCAAAGTCTCGCCAATATCC	0.602													C|||	823	0.164337	0.3434	0.1095	5008	,	,		18477	0.005		0.1302	False		,,,				2504	0.1605				p.L1071L	GBM(59;481 1041 20555 21139 33705)	Atlas-SNP	.											.	MYT1	152	.	0			c.C3213T						PASS	.	C		1334,3072	447.1+/-348.2	202,930,1071	108	111	110		3213	-11.4	0.7	20	dbSNP_101	110	972,7628	211.8+/-252.3	67,838,3395	no	coding-synonymous	MYT1	NM_004535.2		269,1768,4466	TT,TC,CC		11.3023,30.2769,17.7303		1071/1122	62871232	2306,10700	2203	4300	6503	SO:0001819	synonymous_variant	4661	exon22			AAGTCTCGCCAAT	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3213C>T	20.37:g.62871232C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	35	14	0.4	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																			C|0.826;T|0.174	0.174	strong		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62871232	C	T	62871232	2	4	22	1	0	0	0	0	0	0	0	1	10106	871	31	1		1	MYT1	20	62871232	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	141389	62871232	154288	10642	15750										
TPTE	7179	hgsc.bcm.edu	37	chr21	10944728	10944728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaacgacatcaaccagcagaAgaatcacaataatggcagta	7	9	2	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:10944728A>G	ENST00000361285.4	-	11	835	c.506T>C	c.(505-507)cTt>cCt	p.L169P	TPTE_ENST00000298232.7_Missense_Mutation_p.L151P|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L131P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	169					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACCAGCAGAAGAATCACAAT	0.313																																					p.L169P		Atlas-SNP	.											TPTE_ENST00000361285,NS,carcinoma,-1,2	TPTE	513	2	0			c.T506C						scavenged	.						161	169	167					21																	10944728		2203	4298	6501	SO:0001583	missense	7179	exon11			AGCAGAAGAATCA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.506T>C	21.37:g.10944728A>G	ENSP00000355208:p.Leu169Pro	Somatic	368	1	0.00271739		WXS	Illumina HiSeq	Phase_I	345	5	0.0144928	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	1.636	-0.517838	0.04171	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98249	-4.82;-4.82;-4.82	2.31	-0.692	0.11301	Ion transport (1);	0.059488	0.64402	N	0.000003	D	0.89567	0.6752	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.11329	0.0;0.0;0.006	D	0.84102	0.0396	10	0.37606	T	0.19	-7.6157	6.5741	0.22555	0.4737:0.0:0.5263:0.0	.	131;151;169	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	P	151;169;131	ENSP00000298232:L151P;ENSP00000355208:L169P;ENSP00000344441:L131P	ENSP00000298232:L151P	L	-	2	0	TPTE	9966599	0.685000	0.27652	0.000000	0.03702	0.016000	0.09150	0.204000	0.17335	-0.554000	0.06150	-2.843000	0.00104	CTT	.	.	none		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			G	10944728	A	G	10944728	3	3	22	1	0	0	0	0	1	0	0	0	16427	72	3	3	1205	3	TPTE	21	10944728	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10		10944728	37185167	10643	15751										
LIPI	149998	hgsc.bcm.edu	37	chr21	15516948	15516948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatttaattttcttacctttCtgggtatgtaagtgatttta	6	4	2	1	rs2822432	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:15516948C>T	ENST00000536861.1	-	9	1290	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.E452K			Q6XZB0	LIPI_HUMAN	lipase, member I	431			E -> K (in dbSNP:rs2822432). {ECO:0000269|PubMed:12719377}.		lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTTACCTTTCTGGGTATGTA	0.294													C|||	1589	0.317292	0.5537	0.4006	5008	,	,		15349	0.0526		0.33	False		,,,				2504	0.1984				p.E452K		Atlas-SNP	.											.	LIPI	95	.	0			c.G1354A						PASS	.	C	LYS/GLU	2345,2055	557.1+/-379.7	637,1071,492	56	60	59		1354	5.3	1	21	dbSNP_100	59	2904,5690	428.6+/-355.9	490,1924,1883	yes	missense	LIPI	NM_198996.2	56	1127,2995,2375	TT,TC,CC		33.791,46.7045,40.3956	benign	452/482	15516948	5249,7745	2200	4297	6497	SO:0001583	missense	149998	exon9			ACCTTTCTGGGTA	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1291G>A	21.37:g.15516948C>T	ENSP00000440381:p.Glu431Lys	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	132	51	0.386364	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		697	0.3191391941391941	265	0.5386178861788617	144	0.39779005524861877	33	0.057692307692307696	255	0.33641160949868076	C	23.2	4.387982	0.82902	0.532955	0.33791	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.88975	-2.45;-2.44	5.34	5.34	0.76211	.	0.684752	0.12545	U	0.459591	T	0.00012	0.0000	L	0.61218	1.895	0.37979	P	0.06645599999999996	B	0.31274	0.317	B	0.36666	0.23	T	0.35325	-0.9793	9	0.13470	T	0.59	.	14.9043	0.70706	0.0:1.0:0.0:0.0	rs2822432;rs60846610;rs2822432	452	Q6XZB0-2	.	K	452;431	ENSP00000343331:E452K;ENSP00000440381:E431K	ENSP00000343331:E452K	E	-	1	0	LIPI	14438819	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.230000	0.32612	2.654000	0.90174	0.650000	0.86243	GAA	C|0.629;T|0.371	0.371	strong		0.294	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		T	15516948	C	T	15516948	3	4	22	1	0	0	0	0	1	0	0	0	8825	922	32	2	99	2	LIPI	21	15516948	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4572220	15516948	32612947	10644	15752										
RBM11	54033	hgsc.bcm.edu	37	chr21	15591968	15591968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtctgctttaaacacccaGaatcggtgtcttatgccata	7	10	2	1	rs141942958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:15591968G>A	ENST00000400577.3	+	2	190	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TAAACACCCAGAATCGGTGTC	0.398													.|||	17	0.00339457	0.0106	0.0043	5008	,	,		16689	0.0		0.0	False		,,,				2504	0.0				p.E61K		Atlas-SNP	.											RBM11,NS,neuroblastoma,-1,1	RBM11	41	1	0			c.G181A						PASS	.	G	LYS/GLU	44,3092		0,44,1524	86	80	82		181	5.3	1	21	dbSNP_134	82	0,7162		0,0,3581	yes	missense	RBM11	NM_144770.3	56	0,44,5105	AA,AG,GG		0.0,1.4031,0.4273	possibly-damaging	61/282	15591968	44,10254	1568	3581	5149	SO:0001583	missense	54033	exon2			CACCCAGAATCGG	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.181G>A	21.37:g.15591968G>A	ENSP00000383421:p.Glu61Lys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	146	88	0.60274	NM_144770	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	G	29.4	5.004735	0.93287	0.014031	0.0	ENSG00000185272	ENST00000400577	T	0.78364	-1.17	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000009	T	0.72220	0.3433	M	0.66378	2.025	0.58432	D	0.999994	P	0.41420	0.749	P	0.48189	0.57	T	0.78703	-0.2101	10	0.48119	T	0.1	-20.9416	18.9174	0.92512	0.0:0.0:1.0:0.0	.	61	P57052	RBM11_HUMAN	K	61	ENSP00000383421:E61K	ENSP00000383421:E61K	E	+	1	0	RBM11	14513839	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.661000	0.90470	0.655000	0.94253	GAA	G|0.995;A|0.005	0.005	strong		0.398	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		A	15591968	G	A	15591968	3	1	22	1	0	0	0	0	1	0	0	0	13112	943	33	2	187	2	RBM11	21	15591968	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75020	15591968	32537927	10645	15753										
RBM11	54033	hgsc.bcm.edu	37	chr21	15599354	15599354	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactcaccaacaaccaagtGactctgacctttatcagatg	7	12	3	3	rs139439630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:15599354G>A	ENST00000400577.3	+	5	595	c.586G>A	c.(586-588)Gac>Aac	p.D196N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	196					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ACAACCAAGTGACTCTGACCT	0.468													.|||	17	0.00339457	0.0008	0.0072	5008	,	,		21404	0.0		0.0099	False		,,,				2504	0.001				p.D196N		Atlas-SNP	.											.	RBM11	41	.	0			c.G586A						PASS	.	G	ASN/ASP	9,3953		0,9,1972	326	307	313		586	1.9	0.1	21	dbSNP_134	313	140,8188		2,136,4026	yes	missense	RBM11	NM_144770.3	23	2,145,5998	AA,AG,GG		1.6811,0.2272,1.2124	probably-damaging	196/282	15599354	149,12141	1981	4164	6145	SO:0001583	missense	54033	exon5			CCAAGTGACTCTG	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.586G>A	21.37:g.15599354G>A	ENSP00000383421:p.Asp196Asn	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	361	160	0.443213	NM_144770	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	13	0.005952380952380952	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	9	0.011873350923482849	G	9.181	1.023488	0.19433	0.002272	0.016811	ENSG00000185272	ENST00000400577	T	0.08720	3.06	1.87	1.87	0.25490	.	0.067005	0.64402	D	0.000010	T	0.03827	0.0108	N	0.08118	0	0.22926	N	0.998552	D	0.57571	0.98	P	0.61658	0.892	T	0.38308	-0.9667	10	0.17832	T	0.49	.	11.1988	0.48728	0.0:0.0:1.0:0.0	.	196	P57052	RBM11_HUMAN	N	196	ENSP00000383421:D196N	ENSP00000383421:D196N	D	+	1	0	RBM11	14521225	0.107000	0.21998	0.112000	0.21494	0.343000	0.28985	1.259000	0.32956	1.330000	0.45394	0.195000	0.17529	GAC	G|0.988;A|0.012	0.012	strong		0.468	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		A	15599354	G	A	15599354	3	1	22	1	0	0	0	0	1	0	0	0	13112	1290	45	2	604	2	RBM11	21	15599354	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7386	15599354	32530541	10646	15754										
NRIP1	8204	hgsc.bcm.edu	37	chr21	16337448	16337448	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccagattctggtctagaCcctgcacagcccaagtgctc	9	15	2	2	rs28707654	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:16337448C>A	ENST00000400202.1	-	3	3778	c.3066G>T	c.(3064-3066)ggG>ggT	p.G1022G	NRIP1_ENST00000400199.1_Silent_p.G1022G|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.G1022G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1022	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTGGTCTAGACCCTGCACAGC	0.478													C|||	112	0.0223642	0.0787	0.0115	5008	,	,		19106	0.0		0.0	False		,,,				2504	0.0				p.G1022G		Atlas-SNP	.											.	NRIP1	103	.	0			c.G3066T						PASS	.	C		332,4072	171.6+/-201.8	15,302,1885	51	49	50		3066	-4.7	0	21	dbSNP_125	50	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	NRIP1	NM_003489.3		15,303,6183	AA,AC,CC		0.0116,7.5386,2.5611		1022/1159	16337448	333,12669	2202	4299	6501	SO:0001819	synonymous_variant	8204	exon4			TCTAGACCCTGCA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3066G>T	21.37:g.16337448C>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_003489	Q8IWE8	Silent	SNP	ENST00000400202.1	37	CCDS13568.1																																																																																			C|0.978;A|0.022	0.022	strong		0.478	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16337448	C	A	16337448	2	1	22	1	0	0	0	0	0	0	0	1	10652	494	18	4		4	NRIP1	21	16337448	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	738094	16337448	31792447	10647	15755										
NRIP1	8204	hgsc.bcm.edu	37	chr21	16337538	16337538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctgttatccatgcaactGctgggctgagtggaactgta	12	9	0	1	rs28587162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:16337538G>A	ENST00000400202.1	-	3	3688	c.2976C>T	c.(2974-2976)agC>agT	p.S992S	NRIP1_ENST00000318948.4_Silent_p.S992S|NRIP1_ENST00000400199.1_Silent_p.S992S|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	992	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCATGCAACTGCTGGGCTGAG	0.428													G|||	112	0.0223642	0.0787	0.0115	5008	,	,		21468	0.0		0.0	False		,,,				2504	0.0				p.S992S		Atlas-SNP	.											.	NRIP1	103	.	0			c.C2976T						PASS	.	G		334,4072	175.9+/-205.1	15,304,1884	70	62	65		2976	4	0	21	dbSNP_125	65	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	NRIP1	NM_003489.3		15,305,6182	AA,AG,GG		0.0116,7.5806,2.5761		992/1159	16337538	335,12669	2203	4299	6502	SO:0001819	synonymous_variant	8204	exon4			GCAACTGCTGGGC	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2976C>T	21.37:g.16337538G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_003489	Q8IWE8	Silent	SNP	ENST00000400202.1	37	CCDS13568.1																																																																																			G|0.979;A|0.021	0.021	strong		0.428	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16337538	G	A	16337538	2	1	22	1	0	0	0	0	0	0	0	1	10652	1310	46	2		2	NRIP1	21	16337538	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	90	16337538	31792357	10648	15756										
NRIP1	8204	hgsc.bcm.edu	37	chr21	16338814	16338814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagagagtgttgagagagaTtgatgggagaccctgctttg	15	6	0	5	rs9975169	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:16338814T>C	ENST00000400202.1	-	3	2412	c.1700A>G	c.(1699-1701)aAt>aGt	p.N567S	NRIP1_ENST00000400199.1_Missense_Mutation_p.N567S|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.N567S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	567	Repression domain 2.		N -> S (in dbSNP:rs9975169).		androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGAGAGAGATTGATGGGAGA	0.443													T|||	116	0.0231629	0.0809	0.013	5008	,	,		20094	0.0		0.0	False		,,,				2504	0.0				p.N567S		Atlas-SNP	.											.	NRIP1	103	.	0			c.A1700G						PASS	.	T	SER/ASN	356,4050	183.6+/-211.2	17,322,1864	240	238	238		1700	6	1	21	dbSNP_119	238	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NRIP1	NM_003489.3	46	17,323,6163	CC,CT,TT		0.0116,8.0799,2.7449	probably-damaging	567/1159	16338814	357,12649	2203	4300	6503	SO:0001583	missense	8204	exon4			GAGAGATTGATGG	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1700A>G	21.37:g.16338814T>C	ENSP00000383063:p.Asn567Ser	Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	232	118	0.508621	NM_003489	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	39	0.017857142857142856	35	0.07113821138211382	4	0.011049723756906077	0	0.0	0	0.0	T	17.23	3.337615	0.60963	0.080799	1.16E-4	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.20200	2.09;2.09;2.09	6.02	6.02	0.97574	.	0.204155	0.42172	D	0.000750	T	0.02455	0.0075	L	0.53249	1.67	0.45490	D	0.998455	D	0.59767	0.986	P	0.58520	0.84	T	0.00019	-1.2359	10	0.62326	D	0.03	-19.3161	16.5446	0.84426	0.0:0.0:0.0:1.0	rs9975169;rs52814028;rs9975169	567	P48552	NRIP1_HUMAN	S	567	ENSP00000383060:N567S;ENSP00000383063:N567S;ENSP00000327213:N567S	ENSP00000327213:N567S	N	-	2	0	NRIP1	15260685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.311000	0.77944	0.533000	0.62120	AAT	T|0.973;C|0.027	0.027	strong		0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		C	16338814	T	C	16338814	3	2	22	1	0	0	0	0	1	0	0	0	10652	1493	52	2	1780	2	NRIP1	21	16338814	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1276	16338814	31791081	10649	15757										
NRIP1	8204	hgsc.bcm.edu	37	chr21	16340289	16340289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgaggtgcagcatgccagaCccctgatatgtatgtgtatt	11	8	0	3	rs2229741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:16340289C>T	ENST00000400202.1	-	3	937	c.225G>A	c.(223-225)ggG>ggA	p.G75G	NRIP1_ENST00000400199.1_Silent_p.G75G|NRIP1_ENST00000318948.4_Silent_p.G75G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	75	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G75G(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCATGCCAGACCCCTGATATG	0.443													T|||	3002	0.599441	0.7829	0.549	5008	,	,		22522	0.7738		0.4026	False		,,,				2504	0.41				p.G75G		Atlas-SNP	.											NRIP1,NS,carcinoma,0,1	NRIP1	103	1	1	Substitution - coding silent(1)	prostate(1)	c.G225A						PASS	.	T		3170,1236	426.6+/-341.2	1153,864,186	62	56	58	http://www.ncbi.nlm.nih.gov/pubmed?term	225	3.3	1	21	dbSNP_98	58	3594,5006	626.6+/-397.9	736,2122,1442	yes	coding-synonymous	NRIP1	NM_003489.3		1889,2986,1628	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	41.7907,28.0527,47.9932		75/1159	16340289	6764,6242	2203	4300	6503	SO:0001819	synonymous_variant	8204	exon4			GCCAGACCCCTGA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.225G>A	21.37:g.16340289C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	119	64	0.537815	NM_003489	Q8IWE8	Silent	SNP	ENST00000400202.1	37	CCDS13568.1																																																																																			C|0.443;T|0.557	0.557	strong		0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		T	16340289	C	T	16340289	2	4	22	1	0	0	0	0	0	0	0	1	10652	494	18	2		2	NRIP1	21	16340289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1475	16340289	31789606	10650	15758										
TMPRSS15	5651	hgsc.bcm.edu	37	chr21	19651307	19651307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atacaaccgtcccccaaccaGcaatagaacaatttcttcct	3	15	1	1	rs73320125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:19651307G>A	ENST00000284885.3	-	23	2771	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	913	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCCCCAACCAGCAATAGAACA	0.328													G|||	247	0.0493211	0.1657	0.0202	5008	,	,		10352	0.006		0.008	False		,,,				2504	0.0				p.A913V		Atlas-SNP	.											.	TMPRSS15	189	.	0			c.C2738T						PASS	.	G	VAL/ALA	691,3715	276.6+/-273.2	44,603,1556	49	50	50		2738	4.9	1	21	dbSNP_130	50	60,8534	34.8+/-89.0	0,60,4237	yes	missense	TMPRSS15	NM_002772.2	64	44,663,5793	AA,AG,GG		0.6982,15.6832,5.7769	probably-damaging	913/1020	19651307	751,12249	2203	4297	6500	SO:0001583	missense	5651	exon23			CAACCAGCAATAG		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2738C>T	21.37:g.19651307G>A	ENSP00000284885:p.Ala913Val	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	109	39	0.357798	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	76	0.0347985347985348	60	0.12195121951219512	8	0.022099447513812154	2	0.0034965034965034965	6	0.0079155672823219	G	15.55	2.867744	0.51588	0.156832	0.006982	ENSG00000154646	ENST00000284885	D	0.93076	-3.16	5.76	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.46947	1.48	0.51012	D	0.9999	D	0.89917	1.0	D	0.75020	0.985	T	0.42682	-0.9437	9	.	.	.	.	15.5022	0.75709	0.0:0.0:0.8607:0.1393	.	913	P98073	ENTK_HUMAN	V	913	ENSP00000284885:A913V	.	A	-	2	0	TMPRSS15	18573178	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	6.057000	0.71119	1.448000	0.47680	-0.133000	0.14855	GCT	G|0.953;A|0.047	0.047	strong		0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19651307	G	A	19651307	3	1	22	1	0	0	0	0	1	0	0	0	16243	971	34	2	333	2	TMPRSS15	21	19651307	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3311018	19651307	28478588	10651	15759										
TMPRSS15	5651	hgsc.bcm.edu	37	chr21	19687517	19687517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagatgaccgtcacagagatTcaccagtggaacacactctc	8	13	3	3	rs11088674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:19687517T>G	ENST00000284885.3	-	17	2011	c.1978A>C	c.(1978-1980)Aat>Cat	p.N660H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	660	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.		N -> H (in dbSNP:rs11088674).			brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAGAGATTCACCAGTGGA	0.393													T|||	274	0.0547125	0.1982	0.0159	5008	,	,		17865	0.0		0.001	False		,,,				2504	0.0				p.N660H		Atlas-SNP	.											.	TMPRSS15	189	.	0			c.A1978C						PASS	.	T	HIS/ASN	811,3595	324.2+/-298.5	69,673,1461	171	142	152		1978	5.3	0.9	21	dbSNP_120	152	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMPRSS15	NM_002772.2	68	69,674,5760	GG,GT,TT		0.0116,18.4067,6.2433	benign	660/1020	19687517	812,12194	2203	4300	6503	SO:0001583	missense	5651	exon17			AGAGATTCACCAG		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1978A>C	21.37:g.19687517T>G	ENSP00000284885:p.Asn660His	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	86	0.039377289377289376	82	0.16666666666666666	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	T	3.323	-0.138326	0.06669	0.184067	1.16E-4	ENSG00000154646	ENST00000284885	D	0.95377	-3.69	5.27	5.27	0.74061	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.247388	0.42053	D	0.000763	T	0.01387	0.0045	N	0.26130	0.795	0.28774	N	0.900214	B	0.21225	0.053	B	0.25405	0.06	T	0.28427	-1.0044	9	.	.	.	.	7.7237	0.28746	0.0:0.0912:0.0:0.9088	rs11088674;rs11088674	660	P98073	ENTK_HUMAN	H	660	ENSP00000284885:N660H	.	N	-	1	0	TMPRSS15	18609388	0.975000	0.34042	0.869000	0.34112	0.027000	0.11550	2.212000	0.42835	2.221000	0.72209	0.528000	0.53228	AAT	T|0.943;G|0.057	0.057	strong		0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19687517	T	G	19687517	3	3	22	1	0	0	0	0	1	0	0	0	16243	1783	62	5	1117	5	TMPRSS15	21	19687517	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	36210	19687517	28442378	10652	15760										
TMPRSS15	5651	hgsc.bcm.edu	37	chr21	19704422	19704422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaagccagattagggtagcTgtttggaaagttcgtagaac	13	5	0	2	rs8134187	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:19704422T>A	ENST00000284885.3	-	14	1666	c.1633A>T	c.(1633-1635)Agc>Tgc	p.S545C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	545	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.		S -> C (in dbSNP:rs8134187).			brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAGGGTAGCTGTTTGGAAAG	0.428													T|||	277	0.0553115	0.202	0.0115	5008	,	,		17236	0.0		0.002	False		,,,				2504	0.0				p.S545C		Atlas-SNP	.											.	TMPRSS15	189	.	0			c.A1633T						PASS	.	T	CYS/SER	707,3699	295.9+/-283.9	60,587,1556	148	149	149		1633	1.7	0.7	21	dbSNP_116	149	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMPRSS15	NM_002772.2	112	60,589,5854	AA,AT,TT		0.0233,16.0463,5.4513	probably-damaging	545/1020	19704422	709,12297	2203	4300	6503	SO:0001583	missense	5651	exon14			GGTAGCTGTTTGG		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1633A>T	21.37:g.19704422T>A	ENSP00000284885:p.Ser545Cys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	37	0.468354	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	80	0.03663003663003663	73	0.1483739837398374	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	T	17.24	3.338863	0.60963	0.160463	2.33E-4	ENSG00000154646	ENST00000284885	T	0.19669	2.13	5.43	1.7	0.24286	CUB (5);	0.918548	0.09459	N	0.799265	T	0.00210	0.0006	M	0.86502	2.82	0.47094	P	6.829999999999892E-4	D	0.63046	0.992	P	0.57101	0.813	T	0.04373	-1.0956	8	.	.	.	.	8.8856	0.35400	0.0:0.2218:0.0:0.7782	rs8134187;rs52812192;rs8134187	545	P98073	ENTK_HUMAN	C	545	ENSP00000284885:S545C	.	S	-	1	0	TMPRSS15	18626293	0.208000	0.23494	0.691000	0.30163	0.977000	0.68977	0.449000	0.21744	0.107000	0.17824	-0.263000	0.10527	AGC	T|0.954;A|0.046	0.046	strong		0.428	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19704422	T	A	19704422	3	1	22	1	0	0	0	0	1	0	0	0	16243	1580	55	5	1474	5	TMPRSS15	21	19704422	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	16905	19704422	28425473	10653	15761										
NCAM2	4685	hgsc.bcm.edu	37	chr21	22790831	22790831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgactttggacgctataaTtgcacagccactaatcatat	6	9	1	1	rs986371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:22790831T>C	ENST00000400546.1	+	11	1671	c.1422T>C	c.(1420-1422)aaT>aaC	p.N474N	NCAM2_ENST00000284894.7_Silent_p.N332N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	474	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGCTATAATTGCACAGCCA	0.299													T|||	30	0.00599042	0.0204	0.0043	5008	,	,		16315	0.0		0.0	False		,,,				2504	0.0				p.N474N		Atlas-SNP	.											.	NCAM2	220	.	0			c.T1422C						PASS	.	T		102,3546		0,102,1722	110	109	109		1422	-3.3	1	21	dbSNP_86	109	0,8166		0,0,4083	no	coding-synonymous	NCAM2	NM_004540.3		0,102,5805	CC,CT,TT		0.0,2.7961,0.8634		474/838	22790831	102,11712	1824	4083	5907	SO:0001819	synonymous_variant	4685	exon11			CTATAATTGCACA		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1422T>C	21.37:g.22790831T>C		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	290	139	0.47931	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																			T|0.992;C|0.008	0.008	strong		0.299	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		C	22790831	T	C	22790831	2	2	22	1	0	0	0	0	0	0	0	1	10203	1490	52	2		2	NCAM2	21	22790831	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3086409	22790831	25339064	10654	15762										
ATP5J	2551	hgsc.bcm.edu	37	chr21	27107251	27107251	+	5'UTR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccgcccccacacgcctaccCgccatcgcaatgcattatgg	7	19	0	0	rs71649640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:27107251C>G	ENST00000354828.3	+	0	371				ATP5J_ENST00000400087.3_Intron|GABPA_ENST00000400075.3_5'Flank|ATP5J_ENST00000457143.2_Splice_Site_p.G6R|ATP5J_ENST00000400099.1_Intron|ATP5J_ENST00000400093.3_Intron|ATP5J_ENST00000400094.1_5'Flank|ATP5J_ENST00000400090.3_Intron|ATP5J_ENST00000284971.3_5'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa						cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CACGCCTACCCGCCATCGCAA	0.662													C|||	60	0.0119808	0.0446	0.0014	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0				p.G6R		Atlas-SNP	.											.	ATP5J	13	.	0			c.G16C						PASS	.	C	,,ARG/GLY,,	126,3852		2,122,1865	15	22	20		,,16,,	3.9	1	21	dbSNP_130	20	1,8301		0,1,4150	yes	intron,intron,missense-near-splice,utr-5,intron	ATP5J	NM_001003696.1,NM_001003697.1,NM_001003701.1,NM_001003703.1,NM_001685.4	,,125,,	2,123,6015	GG,GC,CC		0.012,3.1674,1.0342	,,,,	,,6/117,,	27107251	127,12153	1989	4151	6140	SO:0001623	5_prime_UTR_variant	522	exon1			CCTACCCGCCATC		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.-157C>G	21.37:g.27107251C>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	52	0.525253	NM_001003701	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	C	21.0	4.088791	0.76756	0.031674	1.2E-4	ENSG00000154723	ENST00000457143	.	.	.	4.83	3.92	0.45320	.	.	.	.	.	T	0.29817	0.0745	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	5	0.37606	T	0.19	.	11.0432	0.47844	0.0:0.8121:0.1879:0.0	.	.	.	.	R	6	.	ENSP00000389649:G6R	G	-	1	0	ATP5J	26029122	0.918000	0.31147	0.990000	0.47175	0.998000	0.95712	1.903000	0.39858	1.359000	0.45940	0.655000	0.94253	GGA	C|0.990;G|0.010	0.010	strong		0.662	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		G	27107251	C	G	27107251	1	3	22	0	1	0	0	0	0	0	0	0	1158	666	23	4		4	ATP5J	21	27107251	5'UTR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4316420	27107251	21022644	10655	15763										
APP	351	hgsc.bcm.edu	37	chr21	27326977	27326977	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagactgattcatgcgctcAtaaatcacacggaggtgtgt	11	8	3	2	rs45537238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:27326977A>G	ENST00000346798.3	-	13	1647	c.1614T>C	c.(1612-1614)taT>taC	p.Y538Y	APP_ENST00000359726.3_Silent_p.Y482Y|APP_ENST00000357903.3_Silent_p.Y519Y|APP_ENST00000440126.3_Silent_p.Y514Y|APP_ENST00000439274.2_Silent_p.Y482Y|APP_ENST00000348990.5_Silent_p.Y463Y|APP_ENST00000358918.3_Silent_p.Y538Y|APP_ENST00000448388.2_Silent_p.Y428Y|APP_ENST00000354192.3_Silent_p.Y407Y	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	538	Collagen-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCATGCGCTCATAAATCACAC	0.458													G|||	124	0.0247604	0.0893	0.0072	5008	,	,		20225	0.0		0.001	False		,,,				2504	0.0				p.Y538Y		Atlas-SNP	.											.	APP	90	.	0			c.T1614C						PASS	.	G	,,,,,,,,,	332,4074	796.0+/-415.3	16,300,1887	104	81	89		1614,1542,1221,1446,1284,1614,1557,1389,1557,1389	-9.4	0.7	21	dbSNP_127	89	5,8595	818.8+/-406.8	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	APP	NM_000484.3,NM_001136016.3,NM_001136129.2,NM_001136130.2,NM_001136131.2,NM_001204301.1,NM_001204302.1,NM_001204303.1,NM_201413.2,NM_201414.2	,,,,,,,,,	16,305,6182	GG,GA,AA		0.0581,7.5352,2.5911	,,,,,,,,,	538/771,514/747,407/640,482/715,428/661,538/753,519/734,463/678,519/752,463/696	27326977	337,12669	2203	4300	6503	SO:0001819	synonymous_variant	351	exon13			GCGCTCATAAATC	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1614T>C	21.37:g.27326977A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	153	81	0.529412	NM_000484	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	CCDS13576.1	40	0.018315018315018316	36	0.07317073170731707	4	0.011049723756906077	0	0.0	0	0.0	G	8.620	0.891207	0.17613	0.075352	5.81E-4	ENSG00000142192	ENST00000448850	.	.	.	5.52	-9.36	0.00629	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.8727	19.7142	0.96108	0.2996:0.0:0.7004:0.0	rs45537238;rs60681122	.	.	.	R	441	.	.	X	-	1	0	APP	26248848	0.000000	0.05858	0.669000	0.29828	0.984000	0.73092	-1.770000	0.01791	-2.333000	0.00631	-1.115000	0.02055	TGA	A|0.977;G|0.023	0.023	strong		0.458	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		G	27326977	A	G	27326977	2	3	22	1	0	0	0	0	0	0	0	1	815	224	8	2		2	APP	21	27326977	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	219726	27326977	20802918	10656	15764										
ADAMTS1	9510	hgsc.bcm.edu	37	chr21	28214238	28214238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttctatgacggagcagctTctgctcggatcacacacagt	9	12	4	1	rs77718820	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:28214238T>C	ENST00000284984.3	-	3	1603	c.1149A>G	c.(1147-1149)agA>agG	p.R383R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CGGAGCAGCTTCTGCTCGGAT	0.433													T|||	59	0.0117812	0.0439	0.0014	5008	,	,		17992	0.0		0.0	False		,,,				2504	0.0				p.R383R		Atlas-SNP	.											.	ADAMTS1	131	.	0			c.A1149G						PASS	.	T		150,4256	103.4+/-141.9	3,144,2056	119	102	108		1149	0.5	1	21	dbSNP_131	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS1	NM_006988.3		3,145,6355	CC,CT,TT		0.0116,3.4044,1.161		383/968	28214238	151,12855	2203	4300	6503	SO:0001819	synonymous_variant	9510	exon3			GCAGCTTCTGCTC	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1149A>G	21.37:g.28214238T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	131	67	0.51145	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	CCDS33524.1	24	0.01098901098901099	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	0	0.0	T	11.14	1.552302	0.27739	0.034044	1.16E-4	ENSG00000154734	ENST00000451462	.	.	.	5.55	0.507	0.16967	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06862	-1.0803	4	.	.	.	.	6.0716	0.19893	0.0:0.3189:0.3426:0.3385	.	.	.	.	G	165	.	.	E	-	2	0	ADAMTS1	27136109	0.985000	0.35326	0.995000	0.50966	0.974000	0.67602	0.136000	0.15974	-0.047000	0.13423	0.533000	0.62120	GAA	T|0.990;C|0.010	0.010	strong		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			C	28214238	T	C	28214238	2	2	22	1	0	0	0	0	0	0	0	1	255	1780	62	2		2	ADAMTS1	21	28214238	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	887261	28214238	19915657	10657	15765										
ADAMTS5	11096	hgsc.bcm.edu	37	chr21	28338298	28338298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccagagagcggggactaCcgtccactgtgccccgatag	13	14	0	1	rs457947	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:28338298C>G	ENST00000284987.5	-	1	534	c.413G>C	c.(412-414)gGt>gCt	p.G138A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	138			G -> A (in dbSNP:rs457947). {ECO:0000269|PubMed:10438522, ECO:0000269|PubMed:15489334}.		defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGGGGACTACCGTCCACTGT	0.662													C|||	701	0.139976	0.2489	0.17	5008	,	,		14671	0.004		0.1332	False		,,,				2504	0.1186				p.G138A	Esophageal Squamous(53;683 1080 10100 14424 45938)	Atlas-SNP	.											.	ADAMTS5	184	.	0			c.G413C						PASS	.	C	ALA/GLY	1025,3381		112,801,1290	28	26	27		413	4.6	1	21	dbSNP_80	27	1407,7191		127,1153,3019	yes	missense	ADAMTS5	NM_007038.3	60	239,1954,4309	GG,GC,CC		16.3643,23.2637,18.7019	possibly-damaging	138/931	28338298	2432,10572	2203	4299	6502	SO:0001583	missense	11096	exon1			GGACTACCGTCCA	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.413G>C	21.37:g.28338298C>G	ENSP00000284987:p.Gly138Ala	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	294	0.1346153846153846	119	0.241869918699187	62	0.1712707182320442	1	0.0017482517482517483	112	0.14775725593667546	C	10.96	1.499434	0.26861	0.232637	0.163643	ENSG00000154736	ENST00000284987	T	0.09723	2.95	4.57	4.57	0.56435	Peptidase M12B, propeptide (1);	0.163396	0.44097	D	0.000487	T	0.00012	0.0000	L	0.45228	1.405	0.31486	P	0.666612	P	0.47604	0.898	P	0.49192	0.602	T	0.51748	-0.8666	9	0.26408	T	0.33	.	12.9996	0.58667	0.0:0.8377:0.1623:0.0	rs457947	138	Q9UNA0	ATS5_HUMAN	A	138	ENSP00000284987:G138A	ENSP00000284987:G138A	G	-	2	0	ADAMTS5	27260169	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	3.780000	0.55386	2.344000	0.79699	0.563000	0.77884	GGT	C|0.834;G|0.166	0.166	strong		0.662	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			G	28338298	C	G	28338298	3	3	22	1	0	0	0	0	1	0	0	0	269	507	18	4	2411	4	ADAMTS5	21	28338298	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	124060	28338298	19791597	10658	15766										
RNF160	26046	hgsc.bcm.edu	37	chr21	30318207	30318207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagcagtatttcagaaaTagggaaagaaaccggattat	11	4	1	3	rs2250574	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:30318207T>C	ENST00000361371.5	-	21	3769	c.3690A>G	c.(3688-3690)ctA>ctG	p.L1230L	LTN1_ENST00000389194.2_Silent_p.L1276L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1230					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTTCAGAAATAGGGAAAGAA	0.388													T|||	567	0.113219	0.084	0.1196	5008	,	,		18596	0.1667		0.0974	False		,,,				2504	0.1094				p.L1276L		Atlas-SNP	.											.	LTN1	141	.	0			c.A3828G						PASS	.	T		435,3971	210.5+/-231.0	27,381,1795	103	110	108		3828	-3.7	0.9	21	dbSNP_100	108	797,7803	187.4+/-234.7	42,713,3545	no	coding-synonymous	LTN1	NM_015565.2		69,1094,5340	CC,CT,TT		9.2674,9.8729,9.4726		1276/1813	30318207	1232,11774	2203	4300	6503	SO:0001819	synonymous_variant	26046	exon21			CAGAAATAGGGAA	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3690A>G	21.37:g.30318207T>C		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	198	110	0.555556	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37																																																																																				A|0.007;C|0.102	0.102	strong		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		C	30318207	T	C	30318207	2	2	22	1	0	0	0	0	0	0	0	1	13455	1393	49	2		2	RNF160	21	30318207	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1979909	30318207	17811688	10659	15767										
RNF160	26046	hgsc.bcm.edu	37	chr21	30342933	30342933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactttggatttgtgatggaCtgagggagcttgctgatgaa	14	4	0	4	rs61748614	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:30342933C>A	ENST00000361371.5	-	8	1195	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	LTN1_ENST00000389195.2_Missense_Mutation_p.Q418H|LTN1_ENST00000389194.2_Missense_Mutation_p.Q418H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	372				Q -> H (in Ref. 5; BAB14589/BAA91976). {ECO:0000305}.	protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTGTGATGGACTGAGGGAGCT	0.388													C|||	277	0.0553115	0.0507	0.0432	5008	,	,		16416	0.1597		0.005	False		,,,				2504	0.0143				p.Q418H		Atlas-SNP	.											.	LTN1	141	.	0			c.G1254T						PASS	.	C	HIS/GLN	183,4223	116.7+/-154.6	1,181,2021	106	99	101		1254	3.3	1	21	dbSNP_129	101	81,8519	47.2+/-106.3	0,81,4219	yes	missense	LTN1	NM_015565.2	24	1,262,6240	AA,AC,CC		0.9419,4.1534,2.0298	benign	418/1813	30342933	264,12742	2203	4300	6503	SO:0001583	missense	26046	exon8			GATGGACTGAGGG	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1116G>T	21.37:g.30342933C>A	ENSP00000354977:p.Gln372His	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	69	35	0.507246	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		139	0.06364468864468864	18	0.036585365853658534	23	0.06353591160220995	93	0.16258741258741258	5	0.006596306068601583	C	11.22	1.573168	0.28092	0.041534	0.009419	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66460	3.47;3.47;-0.21	4.24	3.27	0.37495	Armadillo-type fold (1);	0.372302	0.27139	N	0.020743	T	0.00241	0.0007	L	0.28115	0.83	0.34013	P	0.348322	B	0.06786	0.001	B	0.04013	0.001	T	0.03148	-1.1067	9	0.40728	T	0.16	.	6.8119	0.23809	0.2958:0.5634:0.1407:0.0	.	372	O94822	LTN1_HUMAN	H	418;372;374;418	ENSP00000373846:Q418H;ENSP00000354977:Q372H;ENSP00000373847:Q418H	ENSP00000354977:Q372H	Q	-	3	2	LTN1	29264804	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.035000	0.30216	2.353000	0.79882	0.555000	0.69702	CAG	C|0.971;A|0.029	0.029	strong		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30342933	C	A	30342933	3	1	22	1	0	0	0	0	1	0	0	0	13455	564	20	4	4276	4	RNF160	21	30342933	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24726	30342933	17786962	10660	15768										
CCT8	10694	hgsc.bcm.edu	37	chr21	30433876	30433876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttgctccacctccgggtaCaagacgtttatcctgtatgt	9	11	0	1	rs8129954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:30433876C>T	ENST00000286788.4	-	12	1431	c.1225G>A	c.(1225-1227)Gta>Ata	p.V409I	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.V336I|CCT8_ENST00000542732.1_Missense_Mutation_p.V390I|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	409			V -> I (in dbSNP:rs8129954).		'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CCTCCGGGTACAAGACGTTTA	0.363													C|||	115	0.0229633	0.0809	0.0043	5008	,	,		17710	0.003		0.002	False		,,,				2504	0.0				p.V409I		Atlas-SNP	.											.	CCT8	38	.	0			c.G1225A						PASS	.	C	ILE/VAL	346,4060	179.0+/-207.6	14,318,1871	87	83	84		1225	4.3	1	21	dbSNP_116	84	3,8597	2.2+/-6.3	0,3,4297	yes	missense	CCT8	NM_006585.2	29	14,321,6168	TT,TC,CC		0.0349,7.8529,2.6834	benign	409/549	30433876	349,12657	2203	4300	6503	SO:0001583	missense	10694	exon12			CGGGTACAAGACG	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1225G>A	21.37:g.30433876C>T	ENSP00000286788:p.Val409Ile	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_006585	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	CCDS33528.1	30	0.013736263736263736	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.31	2.797070	0.50208	0.078529	3.49E-4	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	D;D;D	0.82526	-1.62;-1.62;-1.62	5.19	4.3	0.51218	.	0.194901	0.43110	D	0.000602	T	0.28067	0.0692	M	0.64260	1.97	0.44454	D	0.997383	B;B;B;B;B	0.22746	0.074;0.057;0.071;0.058;0.01	B;B;B;B;B	0.35770	0.151;0.151;0.21;0.133;0.019	T	0.66638	-0.5873	10	0.51188	T	0.08	-15.0082	15.657	0.77144	0.1381:0.8619:0.0:0.0	rs8129954;rs8129954	336;390;409;408;409	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	I	408;409;390;336	ENSP00000286788:V409I;ENSP00000444984:V390I;ENSP00000442730:V336I	ENSP00000286788:V409I	V	-	1	0	CCT8	29355747	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	2.928000	0.48908	1.542000	0.49330	0.650000	0.86243	GTA	C|0.973;T|0.027	0.027	strong		0.363	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			T	30433876	C	T	30433876	3	4	22	1	0	0	0	0	1	0	0	0	2960	478	17	2	437	2	CCT8	21	30433876	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90943	30433876	17696019	10661	15769										
GRIK1	2897	hgsc.bcm.edu	37	chr21	30925928	30925928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccctctctcctctcgaattAatttaccacattctaaatcc	1	15	3	0	rs363504	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:30925928A>G	ENST00000399907.1	-	17	3116	c.2705T>C	c.(2704-2706)tTa>tCa	p.L902S	GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.L887S|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.L904S|GRIK1_ENST00000399914.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	902			L -> S (in dbSNP:rs363504). {ECO:0000269|PubMed:11702055}.		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)	CTCTCGAATTAATTTACCACA	0.353													A|||	550	0.109824	0.2186	0.134	5008	,	,		15478	0.0853		0.0368	False		,,,				2504	0.046				p.L902S		Atlas-SNP	.											.	GRIK1	293	.	0			c.T2705C	GRCh37	CM067678	GRIK1	M	rs363504	PASS	.	A	SER/LEU,	637,3021		43,551,1235	113	115	115		2705,	4.2	1	21	dbSNP_79	115	363,7809		6,351,3729	yes	missense,intron	GRIK1	NM_000830.3,NM_175611.2	145,	49,902,4964	GG,GA,AA		4.442,17.4139,8.4531	benign,	902/919,	30925928	1000,10830	1829	4086	5915	SO:0001583	missense	2897	exon17			CGAATTAATTTAC		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.2705T>C	21.37:g.30925928A>G	ENSP00000382791:p.Leu902Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	105	59	0.561905	NM_000830	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	223	0.1021062271062271	107	0.21747967479674796	45	0.12430939226519337	44	0.07692307692307693	27	0.03562005277044855	A	15.36	2.810171	0.50421	0.174139	0.04442	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.12879	2.69;2.64;2.69	5.4	4.25	0.50352	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.38545	P	0.050674	B	0.29862	0.259	B	0.25759	0.063	T	0.34403	-0.9830	8	0.05959	T	0.93	.	10.9814	0.47497	0.9265:0.0:0.0735:0.0	rs363504;rs52810048;rs60803631;rs363504	902	P39086	GRIK1_HUMAN	S	902;887;904	ENSP00000382791:L902S;ENSP00000382793:L887S;ENSP00000311646:L904S	ENSP00000311646:L904S	L	-	2	0	GRIK1	29847799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.194000	0.65125	1.065000	0.40693	0.533000	0.62120	TTA	T|0.000;G|0.095	0.095	strong		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			G	30925928	A	G	30925928	3	3	22	1	0	0	0	0	1	0	0	0	6773	372	13	2	215	2	GRIK1	21	30925928	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	492052	30925928	17203967	10662	15770										
GRIK1	2897	hgsc.bcm.edu	37	chr21	31062070	31062070	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgtcttcatacaccacTgtcactgttttccagttgta	7	11	3	0	rs363538	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31062070T>G	ENST00000399907.1	-	3	933	c.522A>C	c.(520-522)acA>acC	p.T174T	GRIK1_ENST00000399914.1_Silent_p.T174T|GRIK1_ENST00000399913.1_Silent_p.T174T|GRIK1_ENST00000399909.1_Silent_p.T174T|GRIK1_ENST00000309434.7_Silent_p.T174T|GRIK1_ENST00000535441.1_Silent_p.T174T|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Silent_p.T174T|GRIK1_ENST00000389124.2_Silent_p.T174T|GRIK1_ENST00000327783.4_Silent_p.T174T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	174					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)	CATACACCACTGTCACTGTTT	0.428													G|||	1704	0.340256	0.6755	0.2925	5008	,	,		18444	0.3393		0.1163	False		,,,				2504	0.1524				p.T174T		Atlas-SNP	.											.	GRIK1	293	.	0			c.A522C						PASS	.	G	,	2527,1879	542.2+/-376.0	732,1063,408	216	207	210		522,522	-10	0	21	dbSNP_79	210	973,7627	774.7+/-407.7	62,849,3389	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	794,1912,3797	GG,GT,TT		11.314,42.6464,26.9107	,	174/919,174/906	31062070	3500,9506	2203	4300	6503	SO:0001819	synonymous_variant	2897	exon3			CACCACTGTCACT		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.522A>C	21.37:g.31062070T>G		Somatic	294	1	0.00340136		WXS	Illumina HiSeq	Phase_I	280	280	1	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																			T|0.690;G|0.310	0.310	strong		0.428	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			G	31062070	T	G	31062070	2	3	22	1	0	0	0	0	0	0	0	1	6773	1567	55	5		5	GRIK1	21	31062070	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136142	31062070	17067825	10663	15771										
CLDN8	9073	hgsc.bcm.edu	37	chr21	31587859	31587859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgagcaccaccatgcccgTgatgatgaagatgattccag	11	10	0	6	rs685967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31587859T>C	ENST00000399899.1	-	1	532	c.385A>G	c.(385-387)Acg>Gcg	p.T129A	CLDN8_ENST00000286809.1_Missense_Mutation_p.T129A	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	129			T -> A (in dbSNP:rs685967).		calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ACCATGCCCGTGATGATGAAG	0.502													T|||	415	0.0828674	0.1997	0.0447	5008	,	,		20250	0.0069		0.0427	False		,,,				2504	0.0716				p.T129A		Atlas-SNP	.											CLDN8,NS,adenocarcinoma,+2,1	CLDN8	40	1	0			c.A385G						PASS	.	T	ALA/THR	690,3716	288.1+/-279.7	52,586,1565	96	86	90		385	3.7	0.8	21	dbSNP_83	90	413,8187	129.0+/-187.1	8,397,3895	yes	missense	CLDN8	NM_199328.2	58	60,983,5460	CC,CT,TT		4.8023,15.6605,8.4807	benign	129/226	31587859	1103,11903	2203	4300	6503	SO:0001583	missense	9073	exon1			TGCCCGTGATGAT	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.385A>G	21.37:g.31587859T>C	ENSP00000382783:p.Thr129Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_199328	D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	CCDS13587.1	132	0.06043956043956044	84	0.17073170731707318	17	0.04696132596685083	3	0.005244755244755245	28	0.036939313984168866	T	0.003	-2.413555	0.00191	0.156605	0.048023	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.86627	-2.15;-2.15	4.84	3.65	0.41850	.	0.365369	0.28521	N	0.015059	T	0.00552	0.0018	N	0.12443	0.215	0.80722	P	0.0	B	0.24576	0.106	B	0.38056	0.264	T	0.30679	-0.9970	9	0.02654	T	1	.	9.126	0.36816	0.3995:0.0:0.0:0.6005	rs685967;rs52813142;rs685967	129	P56748	CLD8_HUMAN	A	129	ENSP00000382783:T129A;ENSP00000286809:T129A	ENSP00000286809:T129A	T	-	1	0	CLDN8	30509730	0.039000	0.19947	0.754000	0.31244	0.273000	0.26683	0.263000	0.18478	0.946000	0.37632	0.528000	0.53228	ACG	T|0.908;C|0.092	0.092	strong		0.502	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		C	31587859	T	C	31587859	3	2	22	1	0	0	0	0	1	0	0	0	3491	1696	59	2	296	2	CLDN8	21	31587859	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	525789	31587859	16542036	10664	15772										
KRTAP24-1	643803	hgsc.bcm.edu	37	chr21	31654809	31654809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccaaagcagttggaacCgttgcggagggtttggcagg	16	7	0	0	rs77638540	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31654809C>T	ENST00000340345.4	-	1	467	c.442G>A	c.(442-444)Ggt>Agt	p.G148S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	148						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CAGTTGGAACCGTTGCGGAGG	0.483													C|||	358	0.0714856	0.1513	0.0389	5008	,	,		20814	0.0069		0.0368	False		,,,				2504	0.089				p.G148S		Atlas-SNP	.											.	KRTAP24-1	44	.	0			c.G442A						PASS	.	C	SER/GLY	450,3458		23,404,1527	126	127	127		442	0.9	0	21	dbSNP_131	127	331,7989		9,313,3838	yes	missense	KRTAP24-1	NM_001085455.1	56	32,717,5365	TT,TC,CC		3.9784,11.5148,6.387	benign	148/255	31654809	781,11447	1954	4160	6114	SO:0001583	missense	643803	exon1			TGGAACCGTTGCG	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.442G>A	21.37:g.31654809C>T	ENSP00000339238:p.Gly148Ser	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	172	86	0.5	NM_001085455	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	114	0.0521978021978022	68	0.13821138211382114	17	0.04696132596685083	3	0.005244755244755245	26	0.03430079155672823	C	11.26	1.587728	0.28268	0.115148	0.039784	ENSG00000188694	ENST00000340345	T	0.03607	3.87	4.96	0.877	0.19145	.	0.655352	0.12549	N	0.459217	T	0.00039	0.0001	L	0.57536	1.79	0.09310	N	1	P	0.52316	0.952	B	0.43225	0.412	T	0.34403	-0.9830	10	0.11794	T	0.64	-0.8583	2.2788	0.04109	0.1556:0.5163:0.1511:0.1771	.	148	Q3LI83	KR241_HUMAN	S	148	ENSP00000339238:G148S	ENSP00000339238:G148S	G	-	1	0	KRTAP24-1	30576680	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	0.034000	0.15491	-0.218000	0.12543	GGT	C|0.951;T|0.049	0.049	strong		0.483	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		T	31654809	C	T	31654809	3	4	22	1	0	0	0	0	1	0	0	0	8542	652	23	1	326	1	KRTAP24-1	21	31654809	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66950	31654809	16475086	10665	15773										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31691993	31691993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcctcagtggacgacagcCgctggacacatacctctgtg	12	14	2	0	rs77018583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31691993C>T	ENST00000360542.3	-	1	614	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	121						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGACGACAGCCGCTGGACACA	0.547													C|||	50	0.00998403	0.0325	0.0029	5008	,	,		20333	0.004		0.0	False		,,,				2504	0.001				p.G121S		Atlas-SNP	.											KRTAP26-1,colon,carcinoma,+1,1	KRTAP26-1	58	1	0			c.G361A						PASS	.	C	SER/GLY	138,4268	98.9+/-137.6	0,138,2065	116	119	118		361	-5.4	0	21	dbSNP_131	118	0,8600		0,0,4300	yes	missense	KRTAP26-1	NM_203405.1	56	0,138,6365	TT,TC,CC		0.0,3.1321,1.061	benign	121/211	31691993	138,12868	2203	4300	6503	SO:0001583	missense	388818	exon1			GACAGCCGCTGGA	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.361G>A	21.37:g.31691993C>T	ENSP00000353742:p.Gly121Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	150	77	0.513333	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	20	0.009157509157509158	16	0.032520325203252036	2	0.0055248618784530384	2	0.0034965034965034965	0	0.0	C	0.014	-1.585008	0.00872	0.031321	0.0	ENSG00000197683	ENST00000360542	T	0.01902	4.57	5.21	-5.39	0.02664	.	1.102650	0.07134	N	0.846044	T	0.00356	0.0011	N	0.04132	-0.27	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.48747	-0.9008	10	0.16896	T	0.51	0.1935	1.5488	0.02571	0.1297:0.3086:0.2657:0.2961	.	121	Q6PEX3	KR261_HUMAN	S	121	ENSP00000353742:G121S	ENSP00000353742:G121S	G	-	1	0	KRTAP26-1	30613864	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.339000	0.02652	-0.734000	0.04843	-0.290000	0.09829	GGC	C|0.989;T|0.011	0.011	strong		0.547	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31691993	C	T	31691993	3	4	22	1	0	0	0	0	1	0	0	0	8543	652	23	1	275	1	KRTAP26-1	21	31691993	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37184	31691993	16437902	10666	15774										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31692173	31692173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggcagctggttggttcacCgcaggtctcttggcagttgt	14	10	2	0	rs78165499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31692173C>T	ENST00000360542.3	-	1	434	c.181G>A	c.(181-183)Ggt>Agt	p.G61S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	61						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTTGGTTCACCGCAGGTCTCT	0.572													C|||	49	0.00978435	0.0325	0.0029	5008	,	,		19017	0.003		0.0	False		,,,				2504	0.001				p.G61S		Atlas-SNP	.											.	KRTAP26-1	58	.	0			c.G181A						PASS	.	C	SER/GLY	143,4263	101.2+/-139.8	1,141,2061	115	113	113		181	-0.3	0	21	dbSNP_131	113	0,8600		0,0,4300	yes	missense	KRTAP26-1	NM_203405.1	56	1,141,6361	TT,TC,CC		0.0,3.2456,1.0995	benign	61/211	31692173	143,12863	2203	4300	6503	SO:0001583	missense	388818	exon1			GTTCACCGCAGGT	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.181G>A	21.37:g.31692173C>T	ENSP00000353742:p.Gly61Ser	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	196	114	0.581633	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	21	0.009615384615384616	16	0.032520325203252036	2	0.0055248618784530384	3	0.005244755244755245	0	0.0	C	5.629	0.300713	0.10678	0.032456	0.0	ENSG00000197683	ENST00000360542	T	0.03242	4.0	5.01	-0.306	0.12780	.	1.404840	0.04481	N	0.377750	T	0.00936	0.0031	N	0.19112	0.55	0.09310	N	1	B	0.21753	0.06	B	0.22753	0.041	T	0.45469	-0.9259	10	0.42905	T	0.14	2.1832	3.3195	0.07045	0.1879:0.4114:0.0:0.4007	.	61	Q6PEX3	KR261_HUMAN	S	61	ENSP00000353742:G61S	ENSP00000353742:G61S	G	-	1	0	KRTAP26-1	30614044	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-0.293000	0.08320	0.113000	0.18004	0.655000	0.94253	GGT	C|0.988;T|0.012	0.012	strong		0.572	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31692173	C	T	31692173	3	4	22	1	0	0	0	0	1	0	0	0	8543	652	23	1	455	1	KRTAP26-1	21	31692173	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	180	31692173	16437722	10667	15775										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31692277	31692277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtagggcagaggtcgatgGaggtgagaggaatatggcgg	21	3	0	2	rs3804007	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31692277G>T	ENST00000360542.3	-	1	330	c.77C>A	c.(76-78)tCc>tAc	p.S26Y		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	26			S -> Y (in dbSNP:rs3804007).			intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTCGATGGAGGTGAGAGG	0.542													G|||	509	0.101637	0.2035	0.0893	5008	,	,		19648	0.0218		0.0527	False		,,,				2504	0.1053				p.S26Y		Atlas-SNP	.											.	KRTAP26-1	58	.	0			c.C77A						PASS	.	G	TYR/SER	806,3600	321.3+/-297.0	62,682,1459	66	68	67		77	4.9	0	21	dbSNP_107	67	512,8088	144.7+/-200.5	15,482,3803	yes	missense	KRTAP26-1	NM_203405.1	144	77,1164,5262	TT,TG,GG		5.9535,18.2932,10.1338	probably-damaging	26/211	31692277	1318,11688	2203	4300	6503	SO:0001583	missense	388818	exon1			TCGATGGAGGTGA	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.77C>A	21.37:g.31692277G>T	ENSP00000353742:p.Ser26Tyr	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	208	107	0.514423	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	171	0.0782967032967033	94	0.1910569105691057	28	0.07734806629834254	9	0.015734265734265736	40	0.052770448548812667	G	12.75	2.031278	0.35797	0.182932	0.059535	ENSG00000197683	ENST00000360542	T	0.05925	3.37	4.95	4.95	0.65309	.	0.351539	0.25878	N	0.027710	T	0.00039	0.0001	M	0.78456	2.415	0.80722	P	0.0	D	0.89917	1.0	D	0.79108	0.992	T	0.01053	-1.1467	9	0.66056	D	0.02	-16.96	14.402	0.67053	0.0:0.0:1.0:0.0	rs3804007;rs52829761;rs3804007	26	Q6PEX3	KR261_HUMAN	Y	26	ENSP00000353742:S26Y	ENSP00000353742:S26Y	S	-	2	0	KRTAP26-1	30614148	0.035000	0.19736	0.040000	0.18447	0.060000	0.15804	1.639000	0.37176	2.664000	0.90586	0.655000	0.94253	TCC	G|0.909;T|0.091	0.091	strong		0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31692277	G	T	31692277	3	4	22	1	0	0	0	0	1	0	0	0	8543	1174	41	4	559	4	KRTAP26-1	21	31692277	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	104	31692277	16437618	10668	15776										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31692346	31692346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcccgagcagtagttggggCaagacatagtgaggttgtga	15	6	0	3	rs115381362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31692346C>T	ENST00000360542.3	-	1	261	c.8G>A	c.(7-9)tGc>tAc	p.C3Y		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	3						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTAGTTGGGGCAAGACATAGT	0.512													C|||	25	0.00499201	0.0182	0.0014	5008	,	,		17989	0.0		0.0	False		,,,				2504	0.0				p.C3Y		Atlas-SNP	.											.	KRTAP26-1	58	.	0			c.G8A						PASS	.	C	TYR/CYS	90,4308		0,90,2109	31	34	33		8	2.9	0.9	21	dbSNP_132	33	1,8591		0,1,4295	yes	missense	KRTAP26-1	NM_203405.1	194	0,91,6404	TT,TC,CC		0.0116,2.0464,0.7005	probably-damaging	3/211	31692346	91,12899	2199	4296	6495	SO:0001583	missense	388818	exon1			TTGGGGCAAGACA	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.8G>A	21.37:g.31692346C>T	ENSP00000353742:p.Cys3Tyr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	C	15.21	2.765058	0.49574	0.020464	1.16E-4	ENSG00000197683	ENST00000360542	T	0.16073	2.37	4.95	2.91	0.33838	.	1.072940	0.07352	U	0.882550	T	0.07863	0.0197	N	0.08118	0	0.22975	N	0.998487	D	0.65815	0.995	D	0.66497	0.944	T	0.44081	-0.9351	10	0.72032	D	0.01	-3.9981	10.796	0.46461	0.0:0.6254:0.3746:0.0	.	3	Q6PEX3	KR261_HUMAN	Y	3	ENSP00000353742:C3Y	ENSP00000353742:C3Y	C	-	2	0	KRTAP26-1	30614217	0.953000	0.32496	0.911000	0.35937	0.718000	0.41266	0.656000	0.24948	1.347000	0.45714	0.655000	0.94253	TGC	C|0.993;T|0.007	0.007	strong		0.512	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31692346	C	T	31692346	3	4	22	1	0	0	0	0	1	0	0	0	8543	710	25	2	628	2	KRTAP26-1	21	31692346	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	69	31692346	16437549	10669	15777										
KRTAP27-1	643812	hgsc.bcm.edu	37	chr21	31709935	31709935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccatgtgtgatggcagagaGtggtggggcattgtggaagc	19	5	0	2	rs149814034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31709935G>A	ENST00000382835.2	-	1	77	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	18						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ATGGCAGAGAGTGGTGGGGCA	0.453													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0				p.L18F		Atlas-SNP	.											.	KRTAP27-1	53	.	0			c.C52T						PASS	.	G	PHE/LEU	23,4383	30.8+/-60.4	0,23,2180	103	98	100		52	4.3	1	21	dbSNP_134	100	0,8600		0,0,4300	yes	missense	KRTAP27-1	NM_001077711.1	22	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	probably-damaging	18/208	31709935	23,12983	2203	4300	6503	SO:0001583	missense	643812	exon1			CAGAGAGTGGTGG	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.52C>T	21.37:g.31709935G>A	ENSP00000372286:p.Leu18Phe	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	211	94	0.445498	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	14.33	2.502796	0.44558	0.00522	0.0	ENSG00000206107	ENST00000382835	T	0.03330	3.97	4.29	4.29	0.51040	.	0.619122	0.14168	U	0.336909	T	0.10594	0.0259	M	0.63428	1.95	0.36763	D	0.88338	D	0.89917	1.0	D	0.91635	0.999	T	0.00862	-1.1536	10	0.59425	D	0.04	-6.9941	12.5116	0.56009	0.0:0.0:1.0:0.0	.	18	Q3LI81	KR271_HUMAN	F	18	ENSP00000372286:L18F	ENSP00000372286:L18F	L	-	1	0	KRTAP27-1	30631806	0.995000	0.38212	0.952000	0.39060	0.168000	0.22595	3.701000	0.54793	2.665000	0.90641	0.579000	0.79373	CTC	G|0.997;A|0.003	0.003	strong		0.453	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709935	G	A	31709935	3	1	22	1	0	0	0	0	1	0	0	0	8544	1029	36	2	575	2	KRTAP27-1	21	31709935	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17589	31709935	16419960	10670	15778										
KRTAP13-2	337959	hgsc.bcm.edu	37	chr21	31744287	31744287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agagcaaggaggttctggggCggtagcaggaggtctggcag	20	6	2	1	rs113360916	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31744287C>T	ENST00000399889.2	-	1	270	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	82	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGTTCTGGGGCGGTAGCAGGA	0.607													C|||	41	0.0081869	0.0295	0.0029	5008	,	,		19842	0.0		0.0	False		,,,				2504	0.0				p.R82H		Atlas-SNP	.											.	KRTAP13-2	29	.	0			c.G245A						PASS	.	C	HIS/ARG	124,4282	92.0+/-130.7	0,124,2079	59	59	59		245	1.4	0.1	21	dbSNP_132	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRTAP13-2	NM_181621.3	29	0,126,6377	TT,TC,CC		0.0233,2.8143,0.9688	benign	82/176	31744287	126,12880	2203	4300	6503	SO:0001583	missense	337959	exon1			CTGGGGCGGTAGC	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.245G>A	21.37:g.31744287C>T	ENSP00000382777:p.Arg82His	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	182	86	0.472527	NM_181621		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	15	0.006868131868131868	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	0	0.0	C	7.773	0.707941	0.15239	0.028143	2.33E-4	ENSG00000182816	ENST00000399889	T	0.03496	3.91	4.26	1.36	0.22044	.	0.161204	0.28871	N	0.013862	T	0.00906	0.0030	L	0.39326	1.205	0.09310	N	1	B	0.24258	0.1	B	0.22601	0.04	T	0.46978	-0.9152	10	0.18710	T	0.47	.	4.1563	0.10263	0.1829:0.6128:0.0:0.2043	.	82	Q52LG2	KR132_HUMAN	H	82	ENSP00000382777:R82H	ENSP00000382777:R82H	R	-	2	0	KRTAP13-2	30666158	0.000000	0.05858	0.054000	0.19295	0.994000	0.84299	-1.818000	0.01717	0.138000	0.18790	0.655000	0.94253	CGC	C|0.990;T|0.010	0.010	strong		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			T	31744287	C	T	31744287	3	4	22	1	0	0	0	0	1	0	0	0	8523	768	27	1	286	1	KRTAP13-2	21	31744287	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34352	31744287	16385608	10671	15779										
KRTAP13-2	337959	hgsc.bcm.edu	37	chr21	31744310	31744310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagcaggaggtctggcagggGctggactccacataggacgt	16	9	1	0	rs3804010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31744310G>C	ENST00000399889.2	-	1	247	c.222C>G	c.(220-222)agC>agG	p.S74R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	74	5 X 10 AA approximate repeats.		S -> R (in dbSNP:rs3804010).			intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TCTGGCAGGGGCTGGACTCCA	0.612													G|||	756	0.150958	0.2943	0.0994	5008	,	,		19292	0.0615		0.1223	False		,,,				2504	0.1155				p.S74R		Atlas-SNP	.											KRTAP13-2,NS,carcinoma,-1,1	KRTAP13-2	29	1	0			c.C222G						PASS	.	G	ARG/SER	1217,3189	421.5+/-339.4	176,865,1162	57	58	58		222	-9.5	0	21	dbSNP_107	58	928,7672	204.4+/-247.1	65,798,3437	no	missense	KRTAP13-2	NM_181621.3	110	241,1663,4599	CC,CG,GG		10.7907,27.6214,16.4924	benign	74/176	31744310	2145,10861	2203	4300	6503	SO:0001583	missense	337959	exon1			GCAGGGGCTGGAC	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.222C>G	21.37:g.31744310G>C	ENSP00000382777:p.Ser74Arg	Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	172	96	0.55814	NM_181621		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	311	0.1423992673992674	156	0.3170731707317073	40	0.11049723756906077	32	0.055944055944055944	83	0.10949868073878628	G	0.102	-1.151315	0.01700	0.276214	0.107907	ENSG00000182816	ENST00000399889	T	0.03212	4.01	4.75	-9.5	0.00584	.	0.139488	0.31859	N	0.006944	T	0.00012	0.0000	N	0.26042	0.785	0.80722	P	0.0	B	0.16802	0.019	B	0.18871	0.023	T	0.38265	-0.9669	9	0.23891	T	0.37	.	4.9289	0.13907	0.1888:0.503:0.1447:0.1635	rs3804010;rs52828905;rs56923242;rs3804010	74	Q52LG2	KR132_HUMAN	R	74	ENSP00000382777:S74R	ENSP00000382777:S74R	S	-	3	2	KRTAP13-2	30666181	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-4.043000	0.00307	-3.351000	0.00181	0.655000	0.94253	AGC	G|0.841;C|0.159	0.159	strong		0.612	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			C	31744310	G	C	31744310	3	2	22	1	0	0	0	0	1	0	0	0	8523	1194	42	4	309	4	KRTAP13-2	21	31744310	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	31744310	16385585	10672	15780										
KRTAP13-2	337959	hgsc.bcm.edu	37	chr21	31744456	31744456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggggtaggaaaagccacGtgaggatgctgggtagcgca	18	7	0	1	rs16986753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31744456G>A	ENST00000399889.2	-	1	101	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	26			R -> C (in dbSNP:rs16986753).			intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAAAAGCCACGTGAGGATGCT	0.562													A|||	26	0.00519169	0.0189	0.0014	5008	,	,		19332	0.0		0.0	False		,,,				2504	0.0				p.R26C		Atlas-SNP	.											.	KRTAP13-2	29	.	0			c.C76T						PASS	.	A	CYS/ARG	99,4307	816.6+/-416.3	1,97,2105	134	119	124		76	2	0.1	21	dbSNP_123	124	1,8599	819.2+/-406.8	0,1,4299	no	missense	KRTAP13-2	NM_181621.3	180	1,98,6404	AA,AG,GG		0.0116,2.2469,0.7689	benign	26/176	31744456	100,12906	2203	4300	6503	SO:0001583	missense	337959	exon1			AGCCACGTGAGGA	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.76C>T	21.37:g.31744456G>A	ENSP00000382777:p.Arg26Cys	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	247	116	0.469636	NM_181621		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	A	0.003	-2.531073	0.00145	0.022469	1.16E-4	ENSG00000182816	ENST00000399889	T	0.02974	4.09	4.64	2.01	0.26516	.	0.321942	0.22259	N	0.062423	T	0.00241	0.0007	N	0.00337	-1.62	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	10	0.02654	T	1	.	1.3696	0.02208	0.5367:0.1853:0.0995:0.1786	rs16986753;rs52808457;rs16986753	26	Q52LG2	KR132_HUMAN	C	26	ENSP00000382777:R26C	ENSP00000382777:R26C	R	-	1	0	KRTAP13-2	30666327	0.992000	0.36948	0.144000	0.22314	0.017000	0.09413	1.031000	0.30165	0.330000	0.23485	-1.228000	0.01579	CGT	G|0.989;A|0.011	0.011	strong		0.562	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			A	31744456	G	A	31744456	3	1	22	1	0	0	0	0	1	0	0	0	8523	1145	40	1	455	1	KRTAP13-2	21	31744456	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	146	31744456	16385439	10673	15781										
KRTAP13-3	337960	hgsc.bcm.edu	37	chr21	31797919	31797919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagggagcagcagctattGgatccaaaaccccgagaccc	10	14	1	1	rs73356706	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31797919G>A	ENST00000390690.2	-	1	367	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	104						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGCAGCTATTGGATCCAAAAC	0.532													-|||	210	0.0419329	0.1505	0.0144	5008	,	,		18568	0.0		0.001	False		,,,				2504	0.0				p.S104S		Atlas-SNP	.											.	KRTAP13-3	47	.	0			c.C312T						PASS	.	G		432,3908		23,386,1761	51	57	55		312	3.4	0.3	21	dbSNP_130	55	9,8569		0,9,4280	no	coding-synonymous	KRTAP13-3	NM_181622.1		23,395,6041	AA,AG,GG		0.1049,9.9539,3.4138		104/173	31797919	441,12477	2170	4289	6459	SO:0001819	synonymous_variant	337960	exon1			GCTATTGGATCCA	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.312C>T	21.37:g.31797919G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	107	47	0.439252	NM_181622	Q3LI78	Silent	SNP	ENST00000390690.2	37	CCDS13591.1																																																																																			G|0.975;A|0.025	0.025	strong		0.532	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			A	31797919	G	A	31797919	2	1	22	1	0	0	0	0	0	0	0	1	8524	1335	47	2		2	KRTAP13-3	21	31797919	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	53463	31797919	16331976	10674	15782										
KRTAP13-4	284827	hgsc.bcm.edu	37	chr21	31802621	31802621	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaactgctgctctagaaacTtctcctcccgctcctttggg					rs73899382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31802621T>A	ENST00000334068.2	+	1	50	c.28T>A	c.(28-30)Ttc>Atc	p.F10I		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	10						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCTAGAAACTTCTCCTCCCG	0.542													-|||	32	0.00638978	0.0234	0.0014	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0				p.F10I	NSCLC(196;2401 3038 18004 35753)	Atlas-SNP	.											.	KRTAP13-4	46	.	0			c.T28A						PASS	.	T	ILE/PHE	90,4316	74.7+/-112.8	1,88,2114	112	113	113		28	2.5	1	21	dbSNP_130	113	0,8600		0,0,4300	yes	missense	KRTAP13-4	NM_181600.1	21	1,88,6414	AA,AT,TT		0.0,2.0427,0.692	probably-damaging	10/161	31802621	90,12916	2203	4300	6503	SO:0001583	missense	284827	exon1			AGAAACTTCTCCT	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.28T>A	21.37:g.31802621T>A	ENSP00000334834:p.Phe10Ile	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	238	102	0.428571	NM_181600	A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	CCDS13592.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	t	14.16	2.452391	0.43531	0.020427	0.0	ENSG00000186971	ENST00000334068	T	0.03496	3.91	4.95	2.47	0.30058	.	0.000000	0.46442	D	0.000291	T	0.06096	0.0158	M	0.87971	2.92	0.26406	N	0.976344	D	0.89917	1.0	D	0.91635	0.999	T	0.01345	-1.1379	10	0.66056	D	0.02	.	9.5117	0.39080	0.0:0.0:0.3442:0.6558	.	10	Q3LI77	KR134_HUMAN	I	10	ENSP00000334834:F10I	ENSP00000334834:F10I	F	+	1	0	KRTAP13-4	30724492	0.999000	0.42202	0.996000	0.52242	0.025000	0.11179	1.211000	0.32382	0.388000	0.25054	-0.321000	0.08615	TTC	T|0.992;A|0.008	0.008	strong		0.542	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			A	31802621	T	A	31802621	3	1	22	1	0	0	0	0	1	0	0	0	8525	1609	56	5	30	5	KRTAP13-4	21	31802621	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4702	31802621	16327274	10675	15783	335	2								
KRTAP13-4	284827	hgsc.bcm.edu	37	chr21	31802629	31802629	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctctagaaacttctcctcCcgctcctttgggggctacct					rs73356729	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31802629C>T	ENST00000334068.2	+	1	58	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						ACTTCTCCTCCCGCTCCTTTG	0.547													-|||	220	0.0439297	0.1581	0.0144	5008	,	,		18637	0.0		0.001	False		,,,				2504	0.0				p.S12S	NSCLC(196;2401 3038 18004 35753)	Atlas-SNP	.											.	KRTAP13-4	46	.	0			c.C36T						PASS	.	C		473,3933		25,423,1755	109	111	110		36	0.1	0.1	21	dbSNP_130	110	10,8590		0,10,4290	no	coding-synonymous	KRTAP13-4	NM_181600.1		25,433,6045	TT,TC,CC		0.1163,10.7354,3.7137		12/161	31802629	483,12523	2203	4300	6503	SO:0001819	synonymous_variant	284827	exon1			CTCCTCCCGCTCC	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.36C>T	21.37:g.31802629C>T		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	242	104	0.429752	NM_181600	A2RRL3	Silent	SNP	ENST00000334068.2	37	CCDS13592.1																																																																																			C|0.963;T|0.037	0.037	strong		0.547	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			T	31802629	C	T	31802629	2	4	22	1	0	0	0	0	0	0	0	1	8525	610	22	2		2	KRTAP13-4	21	31802629	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8	31802629	16327266	10676	15784	335	2								
KRTAP19-4	337971	hgsc.bcm.edu	37	chr21	31869286	31869286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catagcatgatgggcggcagTagccatatccgttgcctcca	11	12	0	1	rs2298437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31869286T>C	ENST00000334058.2	-	1	165	c.143A>G	c.(142-144)tAc>tGc	p.Y48C		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	48			Y -> C (in dbSNP:rs2298437). {ECO:0000269|PubMed:15489334}.			intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGGGCGGCAGTAGCCATATCC	0.493													C|||	3076	0.614217	0.82	0.6571	5008	,	,		17328	0.3194		0.5606	False		,,,				2504	0.6646				p.Y48C		Atlas-SNP	.											KRTAP19-4,uveal_tract,malignant_melanoma,+1,1	KRTAP19-4	22	1	0			c.A143G						PASS	.	C	CYS/TYR	3296,1110	395.8+/-329.8	1230,836,137	119	125	123		143	-4.2	0	21	dbSNP_100	123	4972,3628	521.3+/-379.9	1440,2092,768	yes	missense	KRTAP19-4	NM_181610.1	194	2670,2928,905	CC,CT,TT		42.186,25.1929,36.4293	benign	48/85	31869286	8268,4738	2203	4300	6503	SO:0001583	missense	337971	exon1			CGGCAGTAGCCAT	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.143A>G	21.37:g.31869286T>C	ENSP00000335567:p.Tyr48Cys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	119	56	0.470588	NM_181610	Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	CCDS33534.1	1247	0.5709706959706959	411	0.8353658536585366	243	0.6712707182320442	186	0.32517482517482516	407	0.5369393139841688	C	7.165	0.586432	0.13749	0.748071	0.57814	ENSG00000186967	ENST00000334058	T	0.07444	3.19	4.03	-4.2	0.03823	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.17837	-1.0356	7	0.87932	D	0	.	4.8584	0.13571	0.258:0.2009:0.0:0.5411	rs2298437;rs52825099;rs2298437	48	Q3LI73	KR194_HUMAN	C	48	ENSP00000335567:Y48C	ENSP00000335567:Y48C	Y	-	2	0	KRTAP19-4	30791157	0.000000	0.05858	0.002000	0.10522	0.143000	0.21401	-1.290000	0.02777	-1.323000	0.02275	-0.186000	0.12905	TAC	T|0.392;C|0.608	0.608	strong		0.493	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			C	31869286	T	C	31869286	3	2	22	1	0	0	0	0	1	0	0	0	8531	1638	57	2	114	2	KRTAP19-4	21	31869286	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	66657	31869286	16260609	10677	15785										
KRTAP19-6	337973	hgsc.bcm.edu	37	chr21	31914000	31914000	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tagaatccagagaatccataTccttcacggcatgatgggcg	10	10	1	3	rs1023364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31914000T>A	ENST00000334046.5	-	1	183	c.153A>T	c.(151-153)ggA>ggT	p.G51G		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	51						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGAATCCATATCCTTCACGGC	0.483													t|||	3745	0.747804	0.8033	0.7277	5008	,	,		16063	0.7024		0.7117	False		,,,				2504	0.771				p.G51G		Atlas-SNP	.											.	KRTAP19-6	16	.	0			c.A153T						PASS	.	T		3448,958	729.0+/-410.0	1350,748,105	109	120	116		153	-1.5	0	21	dbSNP_86	116	6103,2497	688.9+/-404.3	2167,1769,364	no	coding-synonymous	KRTAP19-6	NM_181612.2		3517,2517,469	AA,AT,TT		29.0349,21.7431,26.5647		51/59	31914000	9551,3455	2203	4300	6503	SO:0001819	synonymous_variant	337973	exon1			TCCATATCCTTCA	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"Keratin associated proteins"	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.153A>T	21.37:g.31914000T>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_181612	Q3LI71	Silent	SNP	ENST00000334046.5	37	CCDS13598.1																																																																																			T|0.271;A|0.729	0.729	strong		0.483	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			A	31914000	T	A	31914000	2	1	22	1	0	0	0	0	0	0	0	1	8533	1422	50	5		5	KRTAP19-6	21	31914000	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	44714	31914000	16215895	10678	15786										
KRTAP19-6	337973	hgsc.bcm.edu	37	chr21	31914013	31914013	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccatatccttcacggcatGatgggcggcagcagccatat					rs115563631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31914013G>A	ENST00000334046.5	-	1	170	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	47						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						TTCACGGCATGATGGGCGGCA	0.507													g|||	55	0.0109824	0.0401	0.0029	5008	,	,		15048	0.0		0.0	False		,,,				2504	0.0				p.S47L		Atlas-SNP	.											.	KRTAP19-6	16	.	0			c.C140T						PASS	.	G	LEU/SER	161,4245	109.1+/-147.4	2,157,2044	110	120	117		140	2.1	0	21	dbSNP_132	117	3,8597	3.7+/-12.6	0,3,4297	yes	missense	KRTAP19-6	NM_181612.2	145	2,160,6341	AA,AG,GG		0.0349,3.6541,1.261	possibly-damaging	47/59	31914013	164,12842	2203	4300	6503	SO:0001583	missense	337973	exon1			CGGCATGATGGGC	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"Keratin associated proteins"	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.140C>T	21.37:g.31914013G>A	ENSP00000375107:p.Ser47Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	42	0.446809	NM_181612	Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	CCDS13598.1	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	g	7.582	0.668877	0.14776	0.036541	3.49E-4	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.10005	2.92	3.96	2.1	0.27182	.	2.101130	0.03499	N	0.217738	T	0.02380	0.0073	.	.	.	0.09310	N	1	P	0.36616	0.561	B	0.36504	0.226	T	0.30179	-0.9987	9	0.87932	D	0	.	6.6627	0.23022	0.2276:0.0:0.7724:0.0	.	47	Q3LI70	KR196_HUMAN	L	47	ENSP00000375107:S47L	ENSP00000375107:S47L	S	-	2	0	KRTAP19-6	30835884	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.310000	0.08135	0.272000	0.22027	0.597000	0.82753	TCA	G|0.985;A|0.015	0.015	strong		0.507	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			A	31914013	G	A	31914013	3	1	22	1	0	0	0	0	1	0	0	0	8533	1294	45	2	40	2	KRTAP19-6	21	31914013	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13	31914013	16215882	10679	15787	336	2								
KRTAP19-6	337973	hgsc.bcm.edu	37	chr21	31914019	31914019	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccttcacggcatgatgggCggcagcagccatatctatag					rs77807247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31914019C>T	ENST00000334046.5	-	1	164	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	45						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						GCATGATGGGCGGCAGCAGCC	0.498													c|||	161	0.0321486	0.1135	0.0115	5008	,	,		14661	0.0		0.001	False		,,,				2504	0.002				p.R45H		Atlas-SNP	.											.	KRTAP19-6	16	.	0			c.G134A						PASS	.	C	HIS/ARG	371,4035	188.5+/-214.9	13,345,1845	110	120	116		134	-6.1	0	21	dbSNP_131	116	12,8588	9.8+/-36.6	0,12,4288	yes	missense	KRTAP19-6	NM_181612.2	29	13,357,6133	TT,TC,CC		0.1395,8.4203,2.9448	benign	45/59	31914019	383,12623	2203	4300	6503	SO:0001583	missense	337973	exon1			GATGGGCGGCAGC	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"Keratin associated proteins"	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.134G>A	21.37:g.31914019C>T	ENSP00000375107:p.Arg45His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	97	43	0.443299	NM_181612	Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	CCDS13598.1	64	0.029304029304029304	58	0.11788617886178862	6	0.016574585635359115	0	0.0	0	0.0	c	6.926	0.540492	0.13250	0.084203	0.001395	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.11169	2.8	4.39	-6.09	0.02145	.	0.598882	0.13443	N	0.387478	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.32587	-0.9901	9	0.87932	D	0	-1.818	7.3473	0.26670	0.1168:0.3112:0.0:0.5719	.	45	Q3LI70	KR196_HUMAN	H	45	ENSP00000375107:R45H	ENSP00000375107:R45H	R	-	2	0	KRTAP19-6	30835890	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.929000	0.03976	-1.347000	0.02208	-1.903000	0.00527	CGC	C|0.969;T|0.031	0.031	strong		0.498	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			T	31914019	C	T	31914019	3	4	22	1	0	0	0	0	1	0	0	0	8533	768	27	1	46	1	KRTAP19-6	21	31914019	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	31914019	16215876	10680	15788	336	2								
KRTAP6-2	337967	hgsc.bcm.edu	37	chr21	31971075	31971076	+	Frame_Shift_Ins	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagccgtagccatgaccatINSagccacagcaggagctatag					rs74773890|rs113467703|rs113674499	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:31971075_31971076insA	ENST00000334897.3	-	1	143_144	c.118_119insT	c.(118-120)tatfs	p.Y40fs	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	40						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCCATGACCATAGCCACAGCAG	0.564													A|A|AA|insertion	66	0.0131789	0.0484	0.0029	5008	,	,		15138	0.0		0.0	False		,,,				2504	0.0				p.Y40fs		Pindel,Atlas-Indel	.											.	KRTAP6-2	24	.	0			c.119_120insT						PASS	.			171,4093		4,163,1965						-6.6	0		dbSNP_132	106	1,8253		0,1,4126	no	frameshift	KRTAP6-2	NM_181604.1		4,164,6091	A1A1,A1R,RR		0.0121,4.0103,1.374				172,12346				SO:0001589	frameshift_variant	337967	exon1			.	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.119dupT	21.37:g.31971076_31971076dupA	ENSP00000334560:p.Tyr40fs	Somatic	206	.	.		WXS	Illumina HiSeq	Phase_I	200	60	0.3	NM_181604		Frame_Shift_Ins	INS	ENST00000334897.3	37	CCDS13600.1																																																																																			-|0.990;A|0.010	0.010	strong		0.564	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			A	31971076	-	A	31971075	7	5	22	1	0	1	1	0	0	0	0	0	8570	1406	49	0	72	0	KRTAP6-2	21	31971075	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	57056	31971075	16158820	10681	15789										
KRTAP21-2	337978	hgsc.bcm.edu	37	chr21	32119495	32119495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catatccacagcccccacagCagtttctgtagtagttgcaa	7	13	1	0	rs12053674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:32119495C>G	ENST00000333892.2	-	1	56	c.26G>C	c.(25-27)tGc>tCc	p.C9S		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	9				C -> S (in Ref. 1; BAE46374). {ECO:0000305}.		intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						gccccCACAGCAGTTTCTGTA	0.493													G|||	1043	0.208267	0.385	0.0519	5008	,	,		20384	0.3571		0.0686	False		,,,				2504	0.0706				p.C9S		Atlas-SNP	.											.	KRTAP21-2	16	.	0			c.G26C						PASS	.	G	SER/CYS	1449,2957	682.0+/-404.1	230,989,984	152	153	153		26	-0.7	0	21	dbSNP_120	153	410,8190	801.0+/-407.4	12,386,3902	yes	missense	KRTAP21-2	NM_181617.1	112	242,1375,4886	GG,GC,CC		4.7674,32.887,14.2934	benign	9/84	32119495	1859,11147	2203	4300	6503	SO:0001583	missense	337978	exon1			CCACAGCAGTTTC	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"Keratin associated proteins"	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.26G>C	21.37:g.32119495C>G	ENSP00000334287:p.Cys9Ser	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	241	103	0.427386	NM_181617		Missense_Mutation	SNP	ENST00000333892.2	37	CCDS13605.1	443	0.20283882783882784	160	0.3252032520325203	17	0.04696132596685083	210	0.36713286713286714	56	0.07387862796833773	G	1.078	-0.667704	0.03428	0.32887	0.047674	ENSG00000187026	ENST00000333892	T	0.08634	3.07	4.81	-0.735	0.11137	.	0.422367	0.17443	N	0.174059	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	8	0.02654	T	1	-0.3615	3.4867	0.07622	0.0867:0.3986:0.2439:0.2709	rs12053674;rs52790703;rs12053674	9	Q3LI59	KR212_HUMAN	S	9	ENSP00000334287:C9S	ENSP00000334287:C9S	C	-	2	0	KRTAP21-2	31041366	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.538000	0.06120	-0.040000	0.13580	-0.371000	0.07208	TGC	C|0.840;G|0.160	0.160	strong		0.493	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			G	32119495	C	G	32119495	3	3	22	1	0	0	0	0	1	0	0	0	8539	710	25	4	227	4	KRTAP21-2	21	32119495	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	148420	32119495	16010400	10682	15790										
KRTAP19-8	728299	hgsc.bcm.edu	37	chr21	32410619	32410619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtagtataatggtcggcaAcagctgaatccatagcctcc	9	12	0	1	rs2833198	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:32410619A>G	ENST00000382822.2	-	1	176	c.144T>C	c.(142-144)tgT>tgC	p.C48C		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	48						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						ATGGTCGGCAACAGCTGAATC	0.502													G|||	1187	0.237021	0.5144	0.3256	5008	,	,		16311	0.1339		0.0318	False		,,,				2504	0.1166				p.C48C		Atlas-SNP	.											.	KRTAP19-8	9	.	0			c.T144C						PASS	.	G		1889,2517	613.5+/-392.2	422,1045,736	92	113	106		144	-4.2	0	21	dbSNP_100	106	346,8254	799.6+/-407.4	6,334,3960	no	coding-synonymous	KRTAP19-8	NM_001099219.1		428,1379,4696	GG,GA,AA		4.0233,42.8734,17.1844		48/64	32410619	2235,10771	2203	4300	6503	SO:0001819	synonymous_variant	728299	exon1			TCGGCAACAGCTG	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.144T>C	21.37:g.32410619A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	117	54	0.461538	NM_001099219		Silent	SNP	ENST00000382822.2	37	CCDS42917.1																																																																																			A|0.811;G|0.188	0.188	strong		0.502	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		G	32410619	A	G	32410619	2	3	22	1	0	0	0	0	0	0	0	1	8535	41	2	2		2	KRTAP19-8	21	32410619	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	291124	32410619	15719276	10683	15791										
HUNK	30811	hgsc.bcm.edu	37	chr21	33371442	33371442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcccccactgcagccccTagcccctgtgaaccttgcct	7	21	0	1	rs150499320	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:33371442T>C	ENST00000270112.2	+	11	2450	c.2090T>C	c.(2089-2091)cTa>cCa	p.L697P		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	697					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGCAGCCCCTAGCCCCTGTG	0.582													T|||	5	0.000998403	0.0038	0.0	5008	,	,		17188	0.0		0.0	False		,,,				2504	0.0				p.L697P		Atlas-SNP	.											.	HUNK	74	.	0			c.T2090C						PASS	.	T	PRO/LEU	9,4397	14.3+/-33.2	0,9,2194	63	71	69		2090	-2.9	0	21	dbSNP_134	69	0,8600		0,0,4300	yes	missense	HUNK	NM_014586.1	98	0,9,6494	CC,CT,TT		0.0,0.2043,0.0692	benign	697/715	33371442	9,12997	2203	4300	6503	SO:0001583	missense	30811	exon11			AGCCCCTAGCCCC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2090T>C	21.37:g.33371442T>C	ENSP00000270112:p.Leu697Pro	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	128	55	0.429688	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	3.433	-0.115606	0.06881	0.002043	0.0	ENSG00000142149	ENST00000270112	T	0.70164	-0.46	4.42	-2.92	0.05615	.	1.836150	0.03075	N	0.157723	T	0.39306	0.1073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40553	-0.9557	10	0.51188	T	0.08	-1.0E-4	10.8545	0.46792	0.0:0.2362:0.0:0.7638	.	697	P57058	HUNK_HUMAN	P	697	ENSP00000270112:L697P	ENSP00000270112:L697P	L	+	2	0	HUNK	32293313	0.002000	0.14202	0.011000	0.14972	0.070000	0.16714	-0.019000	0.12546	-0.588000	0.05882	-0.462000	0.05337	CTA	T|0.999;C|0.001	0.001	strong		0.582	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		C	33371442	T	C	33371442	3	2	22	1	0	0	0	0	1	0	0	0	7458	1522	53	3	2132	3	HUNK	21	33371442	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	960823	33371442	14758453	10684	15792										
C21orf63	59271	hgsc.bcm.edu	37	chr21	33867447	33867447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcccctgtttgccaggcGtgaaaaaatacctcactgtg	10	11	1	1	rs61744983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:33867447G>A	ENST00000300255.2	+	5	1218	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	EVA1C_ENST00000382699.3_Missense_Mutation_p.V249M|EVA1C_ENST00000401402.3_Intron|EVA1C_ENST00000485488.1_3'UTR	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	249	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTTGCCAGGCGTGAAAAAATA	0.507													G|||	16	0.00319489	0.0121	0.0	5008	,	,		18504	0.0		0.0	False		,,,				2504	0.0				p.V249M		Atlas-SNP	.											.	.	.	.	0			c.G745A						PASS	.	G	MET/VAL	36,4370	40.0+/-72.8	0,36,2167	133	106	115		745	5.6	1	21	dbSNP_129	115	0,8600		0,0,4300	yes	missense	C21orf63	NM_058187.3	21	0,36,6467	AA,AG,GG		0.0,0.8171,0.2768	possibly-damaging	249/442	33867447	36,12970	2203	4300	6503	SO:0001583	missense	59271	exon5			CCAGGCGTGAAAA	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.745G>A	21.37:g.33867447G>A	ENSP00000300255:p.Val249Met	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	159	88	0.553459	NM_058187	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	24.5	4.540898	0.85917	0.008171	0.0	ENSG00000166979	ENST00000300255;ENST00000382699	T;T	0.19250	2.16;2.16	5.62	5.62	0.85841	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.245509	0.41605	D	0.000854	T	0.41766	0.1173	M	0.75884	2.315	0.46564	D	0.999108	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.40664	-0.9551	10	0.56958	D	0.05	0.1652	19.264	0.93979	0.0:0.0:1.0:0.0	rs61744983	249;249	A6ND58;P58658	.;CU063_HUMAN	M	249	ENSP00000300255:V249M;ENSP00000372146:V249M	ENSP00000300255:V249M	V	+	1	0	C21orf63	32789318	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.445000	0.73456	2.631000	0.89168	0.655000	0.94253	GTG	G|0.997;A|0.003	0.003	strong		0.507	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		A	33867447	G	A	33867447	3	1	22	1	0	0	0	0	1	0	0	0	2131	1145	40	1	763	1	C21orf63	21	33867447	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	496005	33867447	14262448	10685	15793										
IFNAR1	3454	hgsc.bcm.edu	37	chr21	34713317	34713317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttaaagaactgggatggaTaattggataaaattgtctgg	11	3	1	1	rs9981753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:34713317T>C	ENST00000270139.3	+	3	365	c.213T>C	c.(211-213)gaT>gaC	p.D71D	IFNAR1_ENST00000442357.2_Silent_p.D71D|IFNAR1_ENST00000416947.2_Silent_p.D2D	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	71	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CTGGGATGGATAATTGGATAA	0.284													T|||	95	0.0189696	0.0658	0.0072	5008	,	,		17150	0.0		0.003	False		,,,				2504	0.0				p.D71D	Esophageal Squamous(73;817 1211 32990 35667 42746)	Atlas-SNP	.											.	IFNAR1	44	.	0			c.T213C						PASS	.	T		244,4162	132.1+/-168.6	6,232,1965	55	59	58		213	3.1	0	21	dbSNP_119	58	14,8582	9.8+/-36.6	0,14,4284	no	coding-synonymous	IFNAR1	NM_000629.2		6,246,6249	CC,CT,TT		0.1629,5.5379,1.9843		71/558	34713317	258,12744	2203	4298	6501	SO:0001819	synonymous_variant	3454	exon3			GATGGATAATTGG		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.213T>C	21.37:g.34713317T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_000629	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																			T|0.986;C|0.014	0.014	strong		0.284	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			C	34713317	T	C	34713317	2	2	22	1	0	0	0	0	0	0	0	1	7544	1403	49	2		2	IFNAR1	21	34713317	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	845870	34713317	13416578	10686	15794										
IFNAR1	3454	hgsc.bcm.edu	37	chr21	34715699	34715699	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taagctttacatatagcttaGttatctggaaaaactcttca	5	7	3	0	rs2257167	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:34715699G>C	ENST00000270139.3	+	4	654	c.502G>C	c.(502-504)Gtt>Ctt	p.V168L	IFNAR1_ENST00000442357.2_Missense_Mutation_p.V168L|IFNAR1_ENST00000416947.2_Missense_Mutation_p.V99L	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	168	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> L (in dbSNP:rs2257167). {ECO:0000269|PubMed:1370833, ECO:0000269|PubMed:2153461, ECO:0000269|Ref.4}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	ATATAGCTTAGTTATCTGGAA	0.338													G|||	1146	0.228834	0.1626	0.2233	5008	,	,		18559	0.377		0.1292	False		,,,				2504	0.272				p.V168L	Esophageal Squamous(73;817 1211 32990 35667 42746)	Atlas-SNP	.											.	IFNAR1	44	.	0			c.G502C	GRCh37	CM035835	IFNAR1	M	rs2257167	PASS	.	G	LEU/VAL	701,3705	291.0+/-281.2	61,579,1563	140	149	146		502	0.8	0	21	dbSNP_100	146	1159,7441	237.1+/-269.0	61,1037,3202	yes	missense	IFNAR1	NM_000629.2	32	122,1616,4765	CC,CG,GG		13.4767,15.9101,14.3011	benign	168/558	34715699	1860,11146	2203	4300	6503	SO:0001583	missense	3454	exon4			AGCTTAGTTATCT		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.502G>C	21.37:g.34715699G>C	ENSP00000270139:p.Val168Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	112	47	0.419643	NM_000629	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	455	0.20833333333333334	71	0.1443089430894309	84	0.23204419889502761	202	0.3531468531468531	98	0.12928759894459102	G	15.93	2.977718	0.53720	0.159101	0.134767	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.28666	1.6;1.6;1.6	5.86	0.838	0.18902	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.095030	0.06767	N	0.782750	T	0.00012	0.0000	L	0.46741	1.465	0.80722	P	0.0	P	0.41748	0.761	P	0.45474	0.482	T	0.28459	-1.0043	9	0.08381	T	0.77	-3.6636	4.8545	0.13552	0.3252:0.16:0.5148:0.0	rs2257167;rs17875817;rs52830923;rs2257167	168	P17181	INAR1_HUMAN	L	99;168;168	ENSP00000395606:V99L;ENSP00000270139:V168L;ENSP00000407406:V168L	ENSP00000270139:V168L	V	+	1	0	IFNAR1	33637569	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	0.111000	0.15458	0.360000	0.24265	0.650000	0.86243	GTT	G|0.831;C|0.169	0.169	strong		0.338	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			C	34715699	G	C	34715699	3	2	22	1	0	0	0	0	1	0	0	0	7544	1029	36	4	516	4	IFNAR1	21	34715699	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2382	34715699	13414196	10687	15795										
IFNAR1	3454	hgsc.bcm.edu	37	chr21	34721782	34721782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaaaacagtctggaaacaCgcctgtgatccaggattatc	8	11	1	1	rs17875834	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:34721782C>T	ENST00000270139.3	+	8	1228	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	IFNAR1_ENST00000442357.2_Missense_Mutation_p.T359M|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T290M	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	359	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs17875834). {ECO:0000269|Ref.5}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TCTGGAAACACGCCTGTGATC	0.338													C|||	315	0.0628994	0.2307	0.0101	5008	,	,		17009	0.002		0.001	False		,,,				2504	0.0				p.T359M	Esophageal Squamous(73;817 1211 32990 35667 42746)	Atlas-SNP	.											IFNAR1,caecum,carcinoma,0,1	IFNAR1	44	1	0			c.C1076T						PASS	.	C	MET/THR	677,3729	286.0+/-278.5	47,583,1573	56	55	55		1076	-1	0	21	dbSNP_124	55	4,8594	3.0+/-9.4	0,4,4295	yes	missense	IFNAR1	NM_000629.2	81	47,587,5868	TT,TC,CC		0.0465,15.3654,5.2369	benign	359/558	34721782	681,12323	2203	4299	6502	SO:0001583	missense	3454	exon8			GAAACACGCCTGT		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1076C>T	21.37:g.34721782C>T	ENSP00000270139:p.Thr359Met	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	106	49	0.462264	NM_000629	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	130	0.05952380952380952	126	0.25609756097560976	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	8.320	0.823991	0.16678	0.153654	4.65E-4	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.40756	1.02;1.02;1.55	4.43	-1.01	0.10169	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.665550	0.02913	N	0.136918	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.22146	0.065	B	0.11329	0.006	T	0.20538	-1.0272	9	0.45353	T	0.12	.	0.7942	0.01063	0.4848:0.1669:0.1883:0.16	rs17875834;rs17875834	359	P17181	INAR1_HUMAN	M	290;359;359	ENSP00000395606:T290M;ENSP00000270139:T359M;ENSP00000407406:T359M	ENSP00000270139:T359M	T	+	2	0	IFNAR1	33643652	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.564000	0.05936	-0.375000	0.07955	-0.272000	0.10252	ACG	C|0.930;T|0.070	0.070	strong		0.338	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			T	34721782	C	T	34721782	3	4	22	1	0	0	0	0	1	0	0	0	7544	536	19	1	1106	1	IFNAR1	21	34721782	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6083	34721782	13408113	10688	15796										
IFNGR2	3460	hgsc.bcm.edu	37	chr21	34787312	34787312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgaggcctgttgtctaccAagtgcagtttaaatagtaag	10	8	1	0	rs9808753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:34787312A>G	ENST00000290219.6	+	2	839	c.191A>G	c.(190-192)cAa>cGa	p.Q64R	IFNGR2_ENST00000381995.1_Missense_Mutation_p.Q83R|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	64	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Q -> R (in dbSNP:rs9808753). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8124716}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTTGTCTACCAAGTGCAGTTT	0.577													G|||	1362	0.271965	0.2489	0.196	5008	,	,		17759	0.4296		0.1431	False		,,,				2504	0.3272				p.Q64R		Atlas-SNP	.											.	IFNGR2	30	.	0			c.A191G						PASS	.	G	ARG/GLN	991,3415	731.6+/-410.3	106,779,1318	123	129	127		191	-1.3	0.1	21	dbSNP_119	127	1183,7417	764.3+/-407.6	89,1005,3206	yes	missense	IFNGR2	NM_005534.3	43	195,1784,4524	GG,GA,AA		13.7558,22.4921,16.7154	benign	64/338	34787312	2174,10832	2203	4300	6503	SO:0001583	missense	3460	exon2			TCTACCAAGTGCA		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.191A>G	21.37:g.34787312A>G	ENSP00000290219:p.Gln64Arg	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_005534	Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	CCDS33544.1	562	0.2573260073260073	109	0.22154471544715448	80	0.22099447513812154	255	0.4458041958041958	118	0.15567282321899736	G	0.005	-2.136795	0.00335	0.224921	0.137558	ENSG00000159128	ENST00000290219;ENST00000381995	T;T	0.73258	-0.73;-0.73	5.39	-1.31	0.09230	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.344440	0.05212	N	0.507005	T	0.00012	0.0000	N	0.21617	0.685	0.54753	P	1.399999999995849E-5	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29549	-1.0008	8	.	.	.	-7.6724	7.2739	0.26273	0.6569:0.142:0.2011:0.0	rs9808753;rs17879493;rs52804646;rs61332453;rs9808753	83;64	E7EUY1;P38484	.;INGR2_HUMAN	R	64;83	ENSP00000290219:Q64R;ENSP00000371425:Q83R	.	Q	+	2	0	IFNGR2	33709182	0.198000	0.23374	0.107000	0.21349	0.006000	0.05464	0.163000	0.16520	-0.769000	0.04620	-1.557000	0.00889	CAA	A|0.793;G|0.207	0.207	strong		0.577	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			G	34787312	A	G	34787312	3	3	22	1	0	0	0	0	1	0	0	0	7550	130	5	2	197	2	IFNGR2	21	34787312	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	65530	34787312	13342583	10689	15797										
CHAF1B	8208	hgsc.bcm.edu	37	chr21	37787615	37787615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaataaacttaacacccttaAagacggacactccaccaagt	5	12	0	1	rs74900401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:37787615A>C	ENST00000314103.5	+	13	1667	c.1516A>C	c.(1516-1518)Aag>Cag	p.K506Q		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	506			K -> Q (in dbSNP:rs2230638).		cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						AACACCCTTAAAGACGGACAC	0.358													A|||	94	0.01877	0.0666	0.0086	5008	,	,		18323	0.0		0.0	False		,,,				2504	0.0				p.K506Q		Atlas-SNP	.											.	CHAF1B	47	.	0			c.A1516C						PASS	.	A	GLN/LYS	231,4175	137.7+/-173.5	11,209,1983	94	93	94		1516	5.3	1	21	dbSNP_131	94	3,8597	2.2+/-6.3	0,3,4297	no	missense	CHAF1B	NM_005441.2	53	11,212,6280	CC,CA,AA		0.0349,5.2429,1.7992	benign	506/560	37787615	234,12772	2203	4300	6503	SO:0001583	missense	8208	exon13			CCCTTAAAGACGG	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1516A>C	21.37:g.37787615A>C	ENSP00000315700:p.Lys506Gln	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_005441	Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	31	0.014194139194139194	27	0.054878048780487805	4	0.011049723756906077	0	0.0	0	0.0	A	15.24	2.773669	0.49786	0.052429	3.49E-4	ENSG00000159259	ENST00000314103	T	0.56444	0.46	5.27	5.27	0.74061	.	0.467856	0.25244	N	0.032064	T	0.09949	0.0244	L	0.34521	1.04	0.41488	D	0.988205	P	0.46706	0.883	B	0.41571	0.36	T	0.02868	-1.1100	10	0.28530	T	0.3	-21.6711	13.7766	0.63057	1.0:0.0:0.0:0.0	rs2230638;rs16994063;rs52813568;rs16994063	506	Q13112	CAF1B_HUMAN	Q	506	ENSP00000315700:K506Q	ENSP00000315700:K506Q	K	+	1	0	CHAF1B	36709485	1.000000	0.71417	0.995000	0.50966	0.553000	0.35397	5.445000	0.66594	1.991000	0.58162	0.533000	0.62120	AAG	A|0.984;C|0.016;T|0.000	0.016	strong		0.358	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		C	37787615	A	C	37787615	3	2	22	1	0	0	0	0	1	0	0	0	3312	15	1	5	1562	5	CHAF1B	21	37787615	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3000303	37787615	10342280	10690	15798										
CLDN14	23562	hgsc.bcm.edu	37	chr21	37833361	37833361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtaggcagctggtggctgGtaggcaggtgcggtgtttgc	19	6	0	0	rs61745291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:37833361G>A	ENST00000399137.1	-	3	1499	c.633C>T	c.(631-633)taC>taT	p.Y211Y	AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000399135.1_Silent_p.Y211Y|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.Y211Y|CLDN14_ENST00000342108.2_Silent_p.Y211Y|CLDN14_ENST00000399139.1_Silent_p.Y211Y	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	211					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CTGGTGGCTGGTAGGCAGGTG	0.657													G|||	118	0.0235623	0.0862	0.0043	5008	,	,		17127	0.0		0.001	False		,,,				2504	0.0				p.Y211Y		Atlas-SNP	.											.	CLDN14	25	.	0			c.C633T						PASS	.	G	,,,,	278,4128	154.4+/-187.8	11,256,1936	96	86	90		633,633,633,633,633	4.8	0.8	21	dbSNP_129	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	,,,,	11,258,6234	AA,AG,GG		0.0233,6.3096,2.1529	,,,,	211/240,211/240,211/240,211/240,211/240	37833361	280,12726	2203	4300	6503	SO:0001819	synonymous_variant	23562	exon3			TGGCTGGTAGGCA	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.633C>T	21.37:g.37833361G>A		Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	419	228	0.544153	NM_144492		Silent	SNP	ENST00000399137.1	37	CCDS13645.1																																																																																			G|0.976;A|0.024	0.024	strong		0.657	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		A	37833361	G	A	37833361	2	1	22	1	0	0	0	0	0	0	0	1	3475	1256	44	2		2	CLDN14	21	37833361	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45746	37833361	10296534	10691	15799										
DSCR6	53820	hgsc.bcm.edu	37	chr21	38390419	38390419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcatcaaccaagggcagcGatcctcaggagggggtgacc	16	11	2	1	rs61735126	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38390419G>A	ENST00000329553.2	+	4	695	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	162					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAAGGGCAGCGATCCTCAGGA	0.627													G|||	67	0.0133786	0.0469	0.0058	5008	,	,		16442	0.0		0.001	False		,,,				2504	0.0				p.R162Q		Atlas-SNP	.											.	DSCR6	16	.	0			c.G485A						PASS	.	G	GLN/ARG	146,4260	99.4+/-138.0	4,138,2061	47	46	46		485	0.1	0	21	dbSNP_129	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DSCR6	NM_018962.2	43	4,139,6360	AA,AG,GG		0.0116,3.3137,1.1302	probably-damaging	162/191	38390419	147,12859	2203	4300	6503	SO:0001583	missense	53820	exon4			GGCAGCGATCCTC	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.485G>A	21.37:g.38390419G>A	ENSP00000331734:p.Arg162Gln	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	55	26	0.472727	NM_018962		Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	G	10.33	1.319066	0.23994	0.033137	1.16E-4	ENSG00000183145	ENST00000329553	.	.	.	3.52	0.127	0.14727	.	1.934300	0.03067	N	0.156638	T	0.06188	0.0160	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.46543	0.52	T	0.12967	-1.0527	9	0.45353	T	0.12	2.0523	6.2061	0.20604	0.0:0.4264:0.3815:0.1922	rs61735126	162	P57055	DSCR6_HUMAN	Q	162	.	ENSP00000331734:R162Q	R	+	2	0	DSCR6	37312289	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	0.232000	0.21100	-0.311000	0.09066	CGA	G|0.989;A|0.011	0.011	strong		0.627	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			A	38390419	G	A	38390419	3	1	22	1	0	0	0	0	1	0	0	0	4773	1058	37	1	499	1	DSCR6	21	38390419	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	557058	38390419	9739476	10692	15800										
PIGP	51227	hgsc.bcm.edu	37	chr21	38444881	38444881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccagcgatgtgctccgtgGcaccattgatccattctcgc	10	15	1	1	rs73200245	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38444881G>A	ENST00000464265.1	-	1	230	c.7C>T	c.(7-9)Cca>Tca	p.P3S	TTC3_ENST00000540756.1_5'Flank|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000399098.1_Intron|PIGP_ENST00000329667.3_5'Flank|TTC3_ENST00000355666.1_5'Flank|PIGP_ENST00000360525.4_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399102.1_Intron	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	3				P -> S (in Ref. 1; BAA96872). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GTGCTCCGTGGCACCATTGAT	0.632													G|||	1046	0.208866	0.3775	0.3573	5008	,	,		14000	0.0823		0.1521	False		,,,				2504	0.0644				p.P3S		Atlas-SNP	.											.	PIGP	9	.	0			c.C7T						PASS	.	G	SER/PRO,	1489,2917	475.5+/-357.3	242,1005,956	127	127	127		7,	-4.1	0	21	dbSNP_130	127	1380,7220	266.9+/-287.0	115,1150,3035	yes	missense,intron	PIGP	NM_153681.2,NM_153682.2	74,	357,2155,3991	AA,AG,GG		16.0465,33.7948,22.059	benign,	3/159,	38444881	2869,10137	2203	4300	6503	SO:0001583	missense	51227	exon1			TCCGTGGCACCAT	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	3046	protein-coding gene	gene with protein product	"phosphatidylinositol-n-acetylglucosaminyltranferase subunit"	605938	"Down syndrome critical region gene 5", "phosphatidylinositol glycan, class P"	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.7C>T	21.37:g.38444881G>A	ENSP00000420037:p.Pro3Ser	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_153681	B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Missense_Mutation	SNP	ENST00000464265.1	37	CCDS13649.1	484	0.2216117216117216	184	0.37398373983739835	124	0.3425414364640884	56	0.0979020979020979	120	0.158311345646438	G	11.31	1.601930	0.28534	0.337948	0.160465	ENSG00000185808	ENST00000464265	T	0.23348	1.91	4.39	-4.09	0.03951	.	6.970870	0.00357	N	0.000039	T	0.00012	0.0000	N	0.03608	-0.345	0.58432	P	9.99999999995449E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	9	0.30854	T	0.27	12.7861	2.1501	0.03797	0.1513:0.4097:0.1697:0.2693	.	3	P57054	PIGP_HUMAN	S	3	ENSP00000420037:P3S	ENSP00000420037:P3S	P	-	1	0	PIGP	37366751	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.903000	0.04084	-0.353000	0.08224	-0.457000	0.05445	CCA	G|0.789;A|0.211	0.211	strong		0.632	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		A	38444881	G	A	38444881	3	1	22	1	0	0	0	0	1	0	0	0	11895	1203	42	2	485	2	PIGP	21	38444881	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54462	38444881	9685014	10693	15801										
TTC3	7267	hgsc.bcm.edu	37	chr21	38512956	38512956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgtggaattggaaaagtAtatttgaaaaaaaacaggtt	9	2	0	1	rs1133001	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38512956A>G	ENST00000399017.2	+	20	4502	c.1755A>G	c.(1753-1755)gtA>gtG	p.V585V	TTC3_ENST00000540756.1_Silent_p.V275V|TTC3_ENST00000355666.1_Silent_p.V585V|TTC3_ENST00000354749.2_Silent_p.V585V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	585					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTGGAAAAGTATATTTGAAAA	0.358													A|||	2964	0.591853	0.6445	0.6282	5008	,	,		15700	0.6032		0.4642	False		,,,				2504	0.6145				p.V585V	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	1	Unknown(1)	skin(1)	c.A1755G						PASS	.	A	,	2766,1640	657.1+/-400.2	869,1028,306	92	91	91		1755,1755	-6.1	1	21	dbSNP_86	91	3848,4752	540.8+/-383.9	896,2056,1348	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	1765,3084,1654	GG,GA,AA		44.7442,37.222,49.1465	,	585/2026,585/2026	38512956	6614,6392	2203	4300	6503	SO:0001819	synonymous_variant	7267	exon20			AAAAGTATATTTG	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1755A>G	21.37:g.38512956A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	34	15	0.441176	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	CCDS13651.1																																																																																			A|0.475;G|0.525	0.525	strong		0.358	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38512956	A	G	38512956	2	3	22	1	0	0	0	0	0	0	0	1	16694	436	16	2		2	TTC3	21	38512956	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	68075	38512956	9616939	10694	15802										
TTC3	7267	hgsc.bcm.edu	37	chr21	38524226	38524226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agactgaaagaagacaaaaaAttgaagagaaagatccaaaa	8	4	0	7	rs2835632	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38524226A>G	ENST00000399017.2	+	26	5057	c.2310A>G	c.(2308-2310)aaA>aaG	p.K770K	TTC3_ENST00000540756.1_Silent_p.K460K|TTC3_ENST00000355666.1_Silent_p.K770K|TTC3_ENST00000354749.2_Silent_p.K770K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	770					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGACAAAAAATTGAAGAGAA	0.338													A|||	528	0.105431	0.2466	0.1715	5008	,	,		18165	0.0407		0.003	False		,,,				2504	0.0399				p.K770K	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.A2310G						PASS	.	A	,	912,3494	336.3+/-304.3	94,724,1385	67	66	66		2310,2310	0.3	0.2	21	dbSNP_100	66	16,8582	11.2+/-40.8	0,16,4283	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	94,740,5668	GG,GA,AA		0.1861,20.699,7.1363	,	770/2026,770/2026	38524226	928,12076	2203	4299	6502	SO:0001819	synonymous_variant	7267	exon26			CAAAAAATTGAAG	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2310A>G	21.37:g.38524226A>G		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	192	105	0.546875	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	CCDS13651.1	197	0.0902014652014652	113	0.22967479674796748	51	0.1408839779005525	31	0.05419580419580419	2	0.002638522427440633	A	6.749	0.507112	0.12883	0.20699	0.001861	ENSG00000182670	ENST00000414818	.	.	.	5.42	0.33	0.15929	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.25717	P	0.9854106	.	.	.	.	.	.	T	0.17561	-1.0365	3	.	.	.	-5.4385	8.4056	0.32612	0.6847:0.0:0.3153:0.0	rs2835632;rs3737425	.	.	.	S	134	.	.	N	+	2	0	TTC3	37446096	0.645000	0.27286	0.218000	0.23776	0.987000	0.75469	1.103000	0.31062	-0.103000	0.12175	-0.274000	0.10170	AAT	A|0.931;G|0.069	0.069	strong		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38524226	A	G	38524226	2	3	22	1	0	0	0	0	0	0	0	1	16694	98	4	2		2	TTC3	21	38524226	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11270	38524226	9605669	10695	15803										
TTC3	7267	hgsc.bcm.edu	37	chr21	38538319	38538319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctagacaagtttctgaggAtgggcaacccaaaggggtct	12	8	3	2	rs61998236	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38538319A>G	ENST00000399017.2	+	33	6550	c.3803A>G	c.(3802-3804)gAt>gGt	p.D1268G	TTC3_ENST00000355666.1_Missense_Mutation_p.D1268G|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.D1268G	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1268					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCTGAGGATGGGCAACCC	0.473													A|||	125	0.0249601	0.0908	0.0058	5008	,	,		18238	0.0		0.001	False		,,,				2504	0.0				p.D1268G	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.A3803G						PASS	.	A	GLY/ASP,GLY/ASP	324,4080	159.2+/-191.8	10,304,1888	60	67	65		3803,3803	1.4	0	21	dbSNP_129	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TTC3	NM_001001894.1,NM_003316.3	94,94	10,306,6186	GG,GA,AA		0.0233,7.3569,2.5069	possibly-damaging,possibly-damaging	1268/2026,1268/2026	38538319	326,12678	2202	4300	6502	SO:0001583	missense	7267	exon33			CTGAGGATGGGCA	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3803A>G	21.37:g.38538319A>G	ENSP00000381981:p.Asp1268Gly	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	184	88	0.478261	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	58	0.026556776556776556	53	0.10772357723577236	5	0.013812154696132596	0	0.0	0	0.0	A	11.72	1.723822	0.30593	0.073569	2.33E-4	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.13196	2.61;2.61;2.61	3.85	1.38	0.22167	.	0.913911	0.09206	N	0.834038	T	0.00241	0.0007	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.001	B;B	0.15484	0.013;0.002	T	0.38308	-0.9667	9	.	.	.	-2.4084	3.1193	0.06386	0.6771:0.0:0.1149:0.208	rs61998236	326;1268	Q5GIT6;P53804	.;TTC3_HUMAN	G	1268	ENSP00000347889:D1268G;ENSP00000381981:D1268G;ENSP00000346791:D1268G	.	D	+	2	0	TTC3	37460189	0.001000	0.12720	0.000000	0.03702	0.406000	0.30931	0.854000	0.27791	0.292000	0.22492	0.533000	0.62120	GAT	A|0.974;G|0.026	0.026	strong		0.473	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38538319	A	G	38538319	3	3	22	1	0	0	0	0	1	0	0	0	16694	333	12	2	3929	2	TTC3	21	38538319	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	14093	38538319	9591576	10696	15804										
TTC3	7267	hgsc.bcm.edu	37	chr21	38568308	38568308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaatagtattattgagcaCctgtcagtggtattcccatg	8	8	2	1	rs6579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38568308C>T	ENST00000399017.2	+	42	8297	c.5550C>T	c.(5548-5550)caC>caT	p.H1850H	TTC3_ENST00000355666.1_Silent_p.H1850H|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.H1850H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1850					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGAGCACCTGTCAGTGG	0.443													C|||	2965	0.592053	0.6445	0.6282	5008	,	,		19670	0.6032		0.4642	False		,,,				2504	0.6155				p.H1850H	Ovarian(38;194 1649 35661)	Atlas-SNP	.											TTC3,NS,carcinoma,+1,1	TTC3	182	1	0			c.C5550T						PASS	.	C	,	2767,1637	635.0+/-396.3	869,1029,304	46	56	53		5550,5550	1.3	0.6	21	dbSNP_52	53	3845,4755	518.9+/-379.4	898,2049,1353	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	1767,3078,1657	TT,TC,CC		44.7093,37.1708,49.1541	,	1850/2026,1850/2026	38568308	6612,6392	2202	4300	6502	SO:0001819	synonymous_variant	7267	exon42			TGAGCACCTGTCA	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5550C>T	21.37:g.38568308C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	CCDS13651.1	1238	0.5668498168498168	315	0.6402439024390244	219	0.6049723756906077	357	0.6241258741258742	347	0.4577836411609499	C	8.684	0.905837	0.17760	0.628292	0.447093	ENSG00000182670	ENST00000428693	.	.	.	4.34	1.26	0.21427	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999727439	.	.	.	.	.	.	T	0.42766	-0.9432	3	.	.	.	-3.1681	5.8525	0.18701	0.0:0.5031:0.3875:0.1093	rs6579;rs762138;rs1053981;rs3194540;rs59448802;rs6579	.	.	.	S	142	.	.	P	+	1	0	TTC3	37490178	0.995000	0.38212	0.614000	0.29051	0.859000	0.49053	0.114000	0.15520	0.337000	0.23665	0.467000	0.42956	CCT	C|0.476;T|0.524	0.524	strong		0.443	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			T	38568308	C	T	38568308	2	4	22	1	0	0	0	0	0	0	0	1	16694	506	18	2		2	TTC3	21	38568308	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29989	38568308	9561587	10697	15805										
DSCR3	10311	hgsc.bcm.edu	37	chr21	38605694	38605694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgataaattcacaggtctttGtcaagtccttggccaacaga	8	10	3	1	rs145630556	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:38605694G>A	ENST00000309117.6	-	4	638	c.401C>T	c.(400-402)aCa>aTa	p.T134I	AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_Missense_Mutation_p.T92I|DSCR3_ENST00000476950.1_Intron|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Missense_Mutation_p.T86I|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	134						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACAGGTCTTTGTCAAGTCCTT	0.463													G|||	11	0.00219649	0.0083	0.0	5008	,	,		17905	0.0		0.0	False		,,,				2504	0.0				p.T134I		Atlas-SNP	.											.	DSCR3	21	.	0			c.C401T						PASS	.	G	ILE/THR	26,4380	31.7+/-61.6	0,26,2177	112	98	103		401	5	0.9	21	dbSNP_134	103	0,8600		0,0,4300	yes	missense	DSCR3	NM_006052.1	89	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	benign	134/298	38605694	26,12980	2203	4300	6503	SO:0001583	missense	10311	exon4			GTCTTTGTCAAGT	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.401C>T	21.37:g.38605694G>A	ENSP00000311399:p.Thr134Ile	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	74	33	0.445946	NM_006052	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	CCDS33553.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	17.52	3.411061	0.62399	0.005901	0.0	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000398998	T	0.06933	3.24	5.0	5.0	0.66597	.	0.051278	0.85682	D	0.000000	T	0.11707	0.0285	M	0.72894	2.215	0.48288	D	0.99962	P	0.40834	0.73	B	0.42361	0.385	T	0.01504	-1.1338	10	0.38643	T	0.18	-0.2541	18.6523	0.91435	0.0:0.0:1.0:0.0	.	134	O14972	DSCR3_HUMAN	I	134;92;86	ENSP00000311399:T134I	ENSP00000288304:T92I	T	-	2	0	DSCR3	37527564	1.000000	0.71417	0.939000	0.37840	0.996000	0.88848	5.652000	0.67959	2.462000	0.83206	0.455000	0.32223	ACA	G|0.998;A|0.002	0.002	strong		0.463	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			A	38605694	G	A	38605694	3	1	22	1	0	0	0	0	1	0	0	0	4771	1377	48	2	512	2	DSCR3	21	38605694	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37386	38605694	9524201	10698	15806										
KCNJ6	3763	hgsc.bcm.edu	37	chr21	39087236	39087236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaagatatcggtcaggtagCgataggtctccctcacgttg	12	9	3	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:39087236C>T	ENST00000609713.1	-	3	813	c.224G>A	c.(223-225)cGc>cAc	p.R75H	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.R75H	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	75					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTCAGGTAGCGATAGGTCTC	0.463																																					p.R75H	Pancreas(48;379 1118 2936 19024 28214)	Atlas-SNP	.											KCNJ6,NS,carcinoma,-1,1	KCNJ6	58	1	0			c.G224A						scavenged	.						235	221	225					21																	39087236		2023	4164	6187	SO:0001583	missense	3763	exon3			AGGTAGCGATAGG	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.224G>A	21.37:g.39087236C>T	ENSP00000477437:p.Arg75His	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	282	3	0.0106383	NM_002240	Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909633	0.92107	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.96856	-4.15;-4.15	5.95	5.95	0.96441	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99050	1.0827	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	75	P48051	IRK6_HUMAN	H	75	ENSP00000383330:R75H;ENSP00000288309:R75H	ENSP00000288309:R75H	R	-	2	0	KCNJ6	38009106	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CGC	.	.	none		0.463	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		T	39087236	C	T	39087236	3	4	22	1	0	0	0	0	1	0	0	0	8055	768	27	1	1055	1	KCNJ6	21	39087236	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	481542	39087236	9042659	10699	15807										
KCNJ6	3763	hgsc.bcm.edu	37	chr21	39087396	39087396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgaatggccactgggctttCgacgtcctgatccatggagt	13	10	0	2	rs202012431		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:39087396C>T	ENST00000609713.1	-	3	653	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.E22K	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	22					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTGGGCTTTCGACGTCCTGA	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18256	0.0		0.0	False		,,,				2504	0.0				p.E22K	Pancreas(48;379 1118 2936 19024 28214)	Atlas-SNP	.											KCNJ6,NS,carcinoma,0,1	KCNJ6	58	1	0			c.G64A						scavenged	.						91	83	86					21																	39087396		2005	4172	6177	SO:0001583	missense	3763	exon3			GGCTTTCGACGTC	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.64G>A	21.37:g.39087396C>T	ENSP00000477437:p.Glu22Lys	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	164	3	0.0182927	NM_002240	Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.14	3.557156	0.65425	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.89196	-2.48;-2.48	5.8	5.8	0.92144	.	0.485962	0.24542	N	0.037633	D	0.83751	0.5322	L	0.31926	0.97	0.80722	D	1	B	0.30511	0.282	B	0.14578	0.011	T	0.81899	-0.0721	10	0.56958	D	0.05	.	18.2511	0.90004	0.0:1.0:0.0:0.0	.	22	P48051	IRK6_HUMAN	K	22	ENSP00000383330:E22K;ENSP00000288309:E22K	ENSP00000288309:E22K	E	-	1	0	KCNJ6	38009266	1.000000	0.71417	0.966000	0.40874	0.848000	0.48234	7.175000	0.77632	2.744000	0.94065	0.655000	0.94253	GAA	C|1.000;T|0.000	0.000	strong		0.522	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		T	39087396	C	T	39087396	3	4	22	1	0	0	0	0	1	0	0	0	8055	893	31	1	1215	1	KCNJ6	21	39087396	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	160	39087396	9042499	10700	15808										
BRWD1	54014	hgsc.bcm.edu	37	chr21	40570830	40570830	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggttcatttccattttatGacatttcccatcttctctat	4	10	3	1	rs2234547	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:40570830G>C	ENST00000333229.2	-	40	5839	c.5512C>G	c.(5512-5514)Cat>Gat	p.H1838D	BRWD1_ENST00000342449.3_Missense_Mutation_p.H1838D|BRWD1_ENST00000380800.3_Missense_Mutation_p.H1838D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1838					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCATTTTATGACATTTCCCA	0.373													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.0				p.H1838D	Melanoma(170;988 1986 4794 16843 39731)	Atlas-SNP	.											.	BRWD1	325	.	0			c.C5512G						PASS	.	G	ASP/HIS,ASP/HIS	15,4389	22.3+/-47.3	0,15,2187	134	133	133		5512,5512	3.2	0.2	21	dbSNP_98	133	0,8600		0,0,4300	yes	missense,missense	BRWD1	NM_018963.4,NM_033656.3	81,81	0,15,6487	CC,CG,GG		0.0,0.3406,0.1153	benign,benign	1838/2321,1838/2270	40570830	15,12989	2202	4300	6502	SO:0001583	missense	54014	exon40			TTTTATGACATTT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5512C>G	21.37:g.40570830G>C	ENSP00000330753:p.His1838Asp	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	172	84	0.488372	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	G	11.80	1.746199	0.30955	0.003406	0.0	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.44083	0.93;0.93;0.93	5.48	3.18	0.36537	.	0.908791	0.09391	N	0.808490	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	B;B	0.26775	0.095;0.159	B;B	0.24155	0.051;0.021	T	0.08534	-1.0717	10	0.35671	T	0.21	-2.3847	4.7666	0.13135	0.1553:0.4107:0.434:0.0	rs2234547;rs2234547	1838;1838	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	D	1838	ENSP00000330753:H1838D;ENSP00000344333:H1838D;ENSP00000370178:H1838D	ENSP00000330753:H1838D	H	-	1	0	BRWD1	39492700	0.000000	0.05858	0.203000	0.23512	0.374000	0.29953	0.674000	0.25218	2.576000	0.86940	0.655000	0.94253	CAT	G|0.997;C|0.003	0.003	strong		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40570830	G	C	40570830	3	2	22	1	0	0	0	0	1	0	0	0	1525	1290	45	4	1701	4	BRWD1	21	40570830	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1483434	40570830	7559065	10701	15809										
BRWD1	54014	hgsc.bcm.edu	37	chr21	40590176	40590176	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtacacaaatcaacaggGcctgcaaaagctgctgctat	8	10	1	0	rs76171323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:40590176G>T	ENST00000333229.2	-	31	3888	c.3561C>A	c.(3559-3561)ggC>ggA	p.G1187G	BRWD1_ENST00000342449.3_Silent_p.G1187G|BRWD1_ENST00000380800.3_Silent_p.G1187G|BRWD1-IT1_ENST00000435608.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1187	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATCAACAGGGCCTGCAAAAG	0.378													G|||	75	0.014976	0.0545	0.0014	5008	,	,		15406	0.0		0.002	False		,,,				2504	0.0				p.G1187G	Melanoma(170;988 1986 4794 16843 39731)	Atlas-SNP	.											BRWD1_ENST00000333229,NS,lymphoid_neoplasm,0,2	BRWD1	325	2	0			c.C3561A						PASS	.	G	,	182,4224	118.8+/-156.5	1,180,2022	108	107	107		3561,3561	-0.7	1	21	dbSNP_131	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BRWD1	NM_018963.4,NM_033656.3	,	1,181,6321	TT,TG,GG		0.0116,4.1307,1.407	,	1187/2321,1187/2270	40590176	183,12823	2203	4300	6503	SO:0001819	synonymous_variant	54014	exon31			AACAGGGCCTGCA	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3561C>A	21.37:g.40590176G>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	112	66	0.589286	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1	40	0.018315018315018316	40	0.08130081300813008	0	0.0	0	0.0	0	0.0	G	9.823	1.186196	0.21870	0.041307	1.16E-4	ENSG00000185658	ENST00000424441	.	.	.	5.56	-0.669	0.11388	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04115	-1.0976	4	.	.	.	-8.3462	7.2761	0.26286	0.5235:0.1169:0.3596:0.0	.	.	.	.	T	173	.	.	P	-	1	0	BRWD1	39512046	0.888000	0.30383	0.993000	0.49108	0.904000	0.53231	0.108000	0.15396	-0.032000	0.13758	0.462000	0.41574	CCC	G|0.984;T|0.016	0.016	strong		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		T	40590176	G	T	40590176	2	4	22	1	0	0	0	0	0	0	0	1	1525	1190	42	4		4	BRWD1	21	40590176	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	19346	40590176	7539719	10702	15810										
IGSF5	150084	hgsc.bcm.edu	37	chr21	41137499	41137499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagtcatagaaggcccccaAaatgcaagagtcctgaaggg	12	9	1	3	rs12626544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:41137499A>G	ENST00000380588.4	+	3	241	c.138A>G	c.(136-138)caA>caG	p.Q46Q	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	46	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AAGGCCCCCAAAATGCAAGAG	0.493													A|||	1983	0.395966	0.2027	0.5389	5008	,	,		19833	0.4702		0.3926	False		,,,				2504	0.4826				p.Q46Q		Atlas-SNP	.											.	IGSF5	62	.	0			c.A138G						PASS	.	A		992,3414	370.0+/-319.4	118,756,1329	56	55	55		138	3.2	1	21	dbSNP_120	55	2972,5628	456.2+/-364.0	528,1916,1856	no	coding-synonymous	IGSF5	NM_001080444.1		646,2672,3185	GG,GA,AA		34.5581,22.5148,30.4782		46/408	41137499	3964,9042	2203	4300	6503	SO:0001819	synonymous_variant	150084	exon3			CCCCCAAAATGCA		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.138A>G	21.37:g.41137499A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	82	35	0.426829	NM_001080444		Silent	SNP	ENST00000380588.4	37	CCDS33562.1																																																																																			A|0.661;G|0.339	0.339	strong		0.493	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			G	41137499	A	G	41137499	2	3	22	1	0	0	0	0	0	0	0	1	7602	11	1	2		2	IGSF5	21	41137499	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	547323	41137499	6992396	10703	15811										
IGSF5	150084	hgsc.bcm.edu	37	chr21	41142958	41142958	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggatatttcctgggagctCggtctcctggtcagccattc	11	13	2	0	rs61737685	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:41142958C>T	ENST00000380588.4	+	4	637	c.534C>T	c.(532-534)ctC>ctT	p.L178L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	178	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CCTGGGAGCTCGGTCTCCTGG	0.517													C|||	230	0.0459265	0.1664	0.0144	5008	,	,		15063	0.0		0.0	False		,,,				2504	0.0				p.L178L		Atlas-SNP	.											.	IGSF5	62	.	0			c.C534T						PASS	.	C		580,3826	258.3+/-262.4	35,510,1658	68	66	66		534	-2.5	0	21	dbSNP_129	66	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	IGSF5	NM_001080444.1		35,516,5952	TT,TC,CC		0.0698,13.1639,4.5056		178/408	41142958	586,12420	2203	4300	6503	SO:0001819	synonymous_variant	150084	exon4			GGAGCTCGGTCTC		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.534C>T	21.37:g.41142958C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	30	0.566038	NM_001080444		Silent	SNP	ENST00000380588.4	37	CCDS33562.1																																																																																			C|0.957;T|0.043	0.043	strong		0.517	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			T	41142958	C	T	41142958	2	4	22	1	0	0	0	0	0	0	0	1	7602	871	31	1		1	IGSF5	21	41142958	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5459	41142958	6986937	10704	15812										
IGSF5	150084	hgsc.bcm.edu	37	chr21	41143018	41143018	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcccagcgaccttcaaagTgcagtgagcatcctggctct	11	13	2	1	rs74817033	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:41143018T>A	ENST00000380588.4	+	4	697	c.594T>A	c.(592-594)agT>agA	p.S198R	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	198	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACCTTCAAAGTGCAGTGAGCA	0.557													T|||	215	0.0429313	0.1551	0.0144	5008	,	,		15696	0.0		0.0	False		,,,				2504	0.0				p.S198R		Atlas-SNP	.											.	IGSF5	62	.	0			c.T594A						PASS	.	T	ARG/SER	560,3846	251.8+/-258.4	34,492,1677	76	72	73		594	-3.7	0	21	dbSNP_131	73	5,8595	3.7+/-12.6	0,5,4295	yes	missense	IGSF5	NM_001080444.1	110	34,497,5972	AA,AT,TT		0.0581,12.7099,4.3441	benign	198/408	41143018	565,12441	2203	4300	6503	SO:0001583	missense	150084	exon4			TCAAAGTGCAGTG		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.594T>A	21.37:g.41143018T>A	ENSP00000369962:p.Ser198Arg	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	87	0.03983516483516483	78	0.15853658536585366	9	0.024861878453038673	0	0.0	0	0.0	T	17.24	3.339873	0.60963	0.127099	5.81E-4	ENSG00000183067	ENST00000380588	T	0.12147	2.71	5.11	-3.69	0.04450	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194230	0.52532	N	0.000061	T	0.00039	0.0001	L	0.40543	1.245	0.80722	P	0.0	P	0.37708	0.606	B	0.37198	0.243	T	0.40175	-0.9577	9	0.14252	T	0.57	-6.954	5.6797	0.17769	0.0:0.2935:0.239:0.4676	.	198	Q9NSI5	IGSF5_HUMAN	R	198	ENSP00000369962:S198R	ENSP00000369962:S198R	S	+	3	2	IGSF5	40064888	0.001000	0.12720	0.000000	0.03702	0.931000	0.56810	-0.287000	0.08388	-0.719000	0.04942	0.528000	0.53228	AGT	T|0.959;A|0.041	0.041	strong		0.557	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			A	41143018	T	A	41143018	3	1	22	1	0	0	0	0	1	0	0	0	7602	1693	59	5	608	5	IGSF5	21	41143018	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	60	41143018	6986877	10705	15813										
IGSF5	150084	hgsc.bcm.edu	37	chr21	41165462	41165462	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattgttcttctgttgcagaCaccgcttctctccctcccaa	5	15	3	1	rs2837225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:41165462C>A	ENST00000380588.4	+	8	1153	c.1050C>A	c.(1048-1050)gaC>gaA	p.D350E		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	350			D -> E (in dbSNP:rs2837225). {ECO:0000269|PubMed:14702039}.		single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D350E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CTGTTGCAGACACCGCTTCTC	0.418													A|||	2256	0.450479	0.5265	0.5173	5008	,	,		17880	0.4802		0.333	False		,,,				2504	0.3906				p.D350E		Atlas-SNP	.											IGSF5,NS,carcinoma,0,1	IGSF5	62	1	1	Substitution - Missense(1)	stomach(1)	c.C1050A						PASS	.	A	GLU/ASP	2197,2209	587.7+/-386.8	536,1125,542	125	129	127		1050	-1	0	21	dbSNP_100	127	2502,6098	694.7+/-404.8	361,1780,2159	yes	missense-near-splice	IGSF5	NM_001080444.1	45	897,2905,2701	AA,AC,CC		29.093,49.8638,36.1295	benign	350/408	41165462	4699,8307	2203	4300	6503	SO:0001630	splice_region_variant	150084	exon8			TGCAGACACCGCT		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.1049-1C>A	21.37:g.41165462C>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	151	150	0.993378	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	975	0.44642857142857145	251	0.5101626016260162	180	0.4972375690607735	281	0.49125874125874125	263	0.3469656992084433	A	0.017	-1.499114	0.01001	0.498638	0.29093	ENSG00000183067	ENST00000380588	T	0.05447	3.44	4.15	-1.03	0.10102	.	2.385660	0.01435	N	0.014860	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43278	-0.9401	9	0.02654	T	1	.	4.5133	0.11923	0.379:0.2986:0.3224:0.0	rs2837225;rs52825047;rs60127372;rs2837225	350	Q9NSI5	IGSF5_HUMAN	E	350	ENSP00000369962:D350E	ENSP00000369962:D350E	D	+	3	2	IGSF5	40087332	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.700000	0.05081	-0.476000	0.06842	-1.346000	0.01242	GAC	C|0.600;A|0.400	0.400	strong		0.418	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Missense_Mutation	A	41165462	C	A	41165462	5	1	22	1	0	0	0	0	0	0	1	0	7602	492	17	4	1080	4	IGSF5	21	41165462	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22444	41165462	6964433	10706	15814										
DSCAM	1826	hgsc.bcm.edu	37	chr21	41455854	41455854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctgatagagctgcccccGttgtctccagggagccaaga	11	14	2	3	rs2297263	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:41455854G>A	ENST00000400454.1	-	24	4689	c.4212C>T	c.(4210-4212)aaC>aaT	p.N1404N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1404	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTGCCCCCGTTGTCTCCAG	0.458													G|||	386	0.0770767	0.1036	0.0259	5008	,	,		17446	0.1548		0.0527	False		,,,				2504	0.0225				p.N1404N	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											.	DSCAM	347	.	0			c.C4212T						PASS	.	G		379,3389		25,329,1530	70	68	69		4212	-10.9	0.1	21	dbSNP_100	69	408,7840		9,390,3725	no	coding-synonymous	DSCAM	NM_001389.3		34,719,5255	AA,AG,GG		4.9467,10.0584,6.5496		1404/2013	41455854	787,11229	1884	4124	6008	SO:0001819	synonymous_variant	1826	exon24			GCCCCCGTTGTCT	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4212C>T	21.37:g.41455854G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_001271534	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																			G|0.935;A|0.065	0.065	strong		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41455854	G	A	41455854	2	1	22	1	0	0	0	0	0	0	0	1	4768	1136	40	1		1	DSCAM	21	41455854	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	290392	41455854	6674041	10707	15815										
PLAC4	25825	hgsc.bcm.edu	37	chr21	42551183	42551183	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccagggtgaggagtgagGgagtccagggtgaggagtga	21	4	0	4	rs202000983	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:42551183G>A	ENST00000330333.6	+	1	775				PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000536486.1_RNA|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000440221.2_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				gaggagtgagggagtccaggg	0.607													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		20303	0.0		0.0	False		,,,				2504	0.0				p.P125S		Atlas-SNP	.											.	.	.	.	0			c.C373T						PASS	.	G	,,,SER/PRO	16,4350		0,16,2167	126	106	113		,,,373	0.2	0	21		113	0,8470		0,0,4235	yes	intron,intron,intron,missense	BACE2,PLAC4	NM_012105.3,NM_138991.1,NM_138992.1,NM_182832.2	,,,74	0,16,6402	AA,AG,GG		0.0,0.3665,0.1246	,,,possibly-damaging	,,,125/151	42551183	16,12820	2183	4235	6418	SO:0001627	intron_variant	191585	exon1			AGTGAGGGAGTCC	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10681G>A	21.37:g.42551183G>A		Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	297	158	0.531987	NM_182832	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																			.	.	weak		0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			A	42551183	G	A	42551183	1	1	22	0	1	0	0	0	0	0	0	0	12014	1232	43	2		2	PLAC4	21	42551183	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1095329	42551183	5578712	10708	15816										
MX2	4600	hgsc.bcm.edu	37	chr21	42749081	42749081	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggagccaaccaagggcaaTggtaagcccggtggagggac	16	10	0	0	rs56680307	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:42749081T>C	ENST00000330714.3	+	2	432	c.248T>C	c.(247-249)aTg>aCg	p.M83T	MX2_ENST00000543692.1_Splice_Site_p.M83T	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	83					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCAAGGGCAATGGTAAGCCCG	0.552													A|||	357	0.0712859	0.1891	0.0288	5008	,	,		17946	0.0546		0.002	False		,,,				2504	0.0307				p.M83T		Atlas-SNP	.											.	MX2	84	.	0			c.T248C						PASS	.	A	THR/MET	755,3651		64,627,1512	106	119	115		248	2.5	0.2	21	dbSNP_129	115	17,8583		0,17,4283	yes	missense-near-splice	MX2	NM_002463.1	81	64,644,5795	CC,CT,TT		0.1977,17.1357,5.9357	benign	83/716	42749081	772,12234	2203	4300	6503	SO:0001630	splice_region_variant	4600	exon2			GGGCAATGGTAAG		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.249+1T>C	21.37:g.42749081T>C		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_002463	B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	131	0.059981684981684984	100	0.2032520325203252	13	0.03591160220994475	18	0.03146853146853147	0	0.0	A	12.34	1.908362	0.33721	0.171357	0.001977	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	D;D	0.91180	-2.41;-2.8	2.47	2.47	0.30058	.	1.146510	0.06303	N	0.701305	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04752	-1.0929	10	0.22109	T	0.4	.	4.8404	0.13487	0.7257:0.0:0.0:0.2743	rs56680307;rs61730272	83	P20592	MX2_HUMAN	T	83	ENSP00000333657:M83T;ENSP00000446017:M83T	ENSP00000333657:M83T	M	+	2	0	MX2	41670951	0.911000	0.30947	0.166000	0.22797	0.020000	0.10135	0.996000	0.29719	0.385000	0.24970	-0.364000	0.07487	ATG	T|0.941;C|0.059	0.059	strong		0.552	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	Missense_Mutation	C	42749081	T	C	42749081	5	2	22	1	0	0	0	0	0	0	1	0	9998	1478	51	2	250	2	MX2	21	42749081	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	197898	42749081	5380814	10709	15817										
MX1	4599	hgsc.bcm.edu	37	chr21	42821113	42821113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatttgaaaatcagtatcgTggtagagagctgccaggctt	11	6	1	2	rs2070229	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:42821113T>C	ENST00000398600.2	+	16	2348	c.1323T>C	c.(1321-1323)cgT>cgC	p.R441R	MX1_ENST00000398598.3_Silent_p.R441R|MX1_ENST00000288383.6_Silent_p.R418R|MX1_ENST00000455164.2_Silent_p.R441R	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	441	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				ATCAGTATCGTGGTAGAGAGC	0.373													T|||	1691	0.33766	0.5567	0.2608	5008	,	,		16436	0.2381		0.2952	False		,,,				2504	0.2423				p.R441R		Atlas-SNP	.											MX1,NS,carcinoma,+1,1	MX1	58	1	0			c.T1323C						PASS	.	T	,,	2256,2150	591.5+/-387.6	581,1094,528	74	84	81		1323,1323,1323	-4.5	0.9	21	dbSNP_96	81	2582,6018	418.7+/-352.8	376,1830,2094	no	coding-synonymous,coding-synonymous,coding-synonymous	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	,,	957,2924,2622	CC,CT,TT		30.0233,48.7971,37.1982	,,	441/663,441/663,441/663	42821113	4838,8168	2203	4300	6503	SO:0001819	synonymous_variant	4599	exon16			GTATCGTGGTAGA		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1323T>C	21.37:g.42821113T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	CCDS13673.1																																																																																			T|0.624;C|0.376	0.376	strong		0.373	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			C	42821113	T	C	42821113	2	2	22	1	0	0	0	0	0	0	0	1	9997	1683	59	2		2	MX1	21	42821113	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	72032	42821113	5308782	10710	15818										
TMPRSS2	7113	hgsc.bcm.edu	37	chr21	42852497	42852497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctctgagatgagtacaCctgaaggatgaagtttggtc	11	8	1	4	rs12329760	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:42852497C>T	ENST00000332149.5	-	6	612	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V160M|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.V197M	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	160	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> M (in dbSNP:rs12329760). {ECO:0000269|PubMed:11414763, ECO:0000269|PubMed:17918732, ECO:0000269|PubMed:9325052}.		positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V160M(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GATGAGTACACCTGAAGGATG	0.507			T	"ERG, ETV1, ETV4, ETV5"	prostate								C|||	1309	0.261382	0.2867	0.1542	5008	,	,		20708	0.3621		0.2356	False		,,,				2504	0.226				p.V197M		Atlas-SNP	.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	TMPRSS2_ENST00000332149,NS,carcinoma,0,1	TMPRSS2	148	1	1	Substitution - Missense(1)	stomach(1)	c.G589A						PASS	.	C	MET/VAL,MET/VAL	1279,3127	433.5+/-343.6	183,913,1107	62	53	56		589,478	4.2	1	21	dbSNP_120	56	1860,6740	330.6+/-319.3	222,1416,2662	yes	missense,missense	TMPRSS2	NM_001135099.1,NM_005656.3	21,21	405,2329,3769	TT,TC,CC		21.6279,29.0286,24.135	probably-damaging,probably-damaging	197/530,160/493	42852497	3139,9867	2203	4300	6503	SO:0001583	missense	7113	exon6			AGTACACCTGAAG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.478G>A	21.37:g.42852497C>T	ENSP00000330330:p.Val160Met	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	129	52	0.403101	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	634	0.2902930402930403	145	0.29471544715447157	69	0.19060773480662985	230	0.4020979020979021	190	0.25065963060686014	C	18.40	3.615593	0.66672	0.290286	0.216279	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.12	4.23	0.50019	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.307523	0.26812	N	0.022371	T	0.00012	0.0000	M	0.85462	2.755	0.28298	P	0.9232503	D;D	0.76494	0.999;0.997	D;D	0.65773	0.938;0.937	T	0.10847	-1.0612	9	0.66056	D	0.02	.	9.9163	0.41436	0.0:0.9025:0.0:0.0975	rs12329760;rs60283747;rs12329760	197;160	F8WES1;O15393	.;TMPS2_HUMAN	M	160;197;160;160;120	ENSP00000330330:V160M;ENSP00000381588:V197M;ENSP00000391216:V160M;ENSP00000389006:V160M;ENSP00000397846:V120M	ENSP00000330330:V160M	V	-	1	0	TMPRSS2	41774367	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	1.578000	0.36525	2.392000	0.81423	0.561000	0.74099	GTG	C|0.744;T|0.256	0.256	strong		0.507	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			T	42852497	C	T	42852497	3	4	22	1	0	0	0	0	1	0	0	0	16244	507	18	2	1036	2	TMPRSS2	21	42852497	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	31384	42852497	5277398	10711	15819										
TMPRSS2	7113	hgsc.bcm.edu	37	chr21	42866296	42866296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctacttgaggtgcacacTgtcccggatggggatttggg	14	9	0	1	rs3787950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:42866296T>C	ENST00000332149.5	-	3	359	c.225A>G	c.(223-225)acA>acG	p.T75T	TMPRSS2_ENST00000458356.1_Silent_p.T75T|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Silent_p.T112T	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	75					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T75T(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGGTGCACACTGTCCCGGATG	0.602			T	"ERG, ETV1, ETV4, ETV5"	prostate								T|||	816	0.162939	0.2179	0.0605	5008	,	,		18021	0.1548		0.0785	False		,,,				2504	0.2566				p.T112T		Atlas-SNP	.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	TMPRSS2_ENST00000332149,NS,carcinoma,0,1	TMPRSS2	148	1	1	Substitution - coding silent(1)	stomach(1)	c.A336G						PASS	.	T	,	831,3575	325.6+/-299.2	91,649,1463	47	46	46		336,225	-9	0	21	dbSNP_107	46	700,7900	167.4+/-219.2	38,624,3638	no	coding-synonymous,coding-synonymous	TMPRSS2	NM_001135099.1,NM_005656.3	,	129,1273,5101	CC,CT,TT		8.1395,18.8606,11.7715	,	112/530,75/493	42866296	1531,11475	2203	4300	6503	SO:0001819	synonymous_variant	7113	exon3			GCACACTGTCCCG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.225A>G	21.37:g.42866296T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	111	64	0.576577	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	CCDS33564.1																																																																																			C|0.135;N|0.001	0.135	strong		0.602	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			C	42866296	T	C	42866296	2	2	22	1	0	0	0	0	0	0	0	1	16244	1567	55	3		3	TMPRSS2	21	42866296	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13799	42866296	5263599	10712	15820										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43161766	43161766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaagtccacctcgttgacCgaggcgttcttctccaacag	8	14	3	1	rs61740546	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43161766C>T	ENST00000352483.2	-	9	1795	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.S466S|RIPK4_ENST00000542057.1_Silent_p.S466S|RIPK4_ENST00000332512.3_Silent_p.S529S			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	577					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCGTTGACCGAGGCGTTCT	0.637													C|||	87	0.0173722	0.0658	0.0	5008	,	,		20784	0.0		0.0	False		,,,				2504	0.0				p.S529S		Atlas-SNP	.											.	RIPK4	151	.	0			c.G1587A						PASS	.	C		245,4161	140.4+/-175.9	7,231,1965	77	63	67		1587	-5.3	0	21	dbSNP_129	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RIPK4	NM_020639.2		7,233,6263	TT,TC,CC		0.0233,5.5606,1.8991		529/785	43161766	247,12759	2203	4300	6503	SO:0001819	synonymous_variant	54101	exon8			GTTGACCGAGGCG	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1731G>A	21.37:g.43161766C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	71	31	0.43662	NM_020639	Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																				C|0.980;G|0.000	.	strong		0.637	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		T	43161766	C	T	43161766	2	4	22	1	0	0	0	0	0	0	0	1	13383	639	23	1		1	RIPK4	21	43161766	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	295470	43161766	4968129	10713	15821										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43176799	43176799	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgccgtctcgtggatgatTcggaaccggagatcccatgg	13	12	1	2	rs13049286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43176799T>G	ENST00000352483.2	-	2	424	c.360A>C	c.(358-360)cgA>cgC	p.R120R	RIPK4_ENST00000544709.1_Silent_p.R57R|RIPK4_ENST00000332512.3_Silent_p.R120R|RIPK4_ENST00000542057.1_Silent_p.R57R			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTGGATGATTCGGAACCGGA	0.627													G|||	633	0.126398	0.171	0.0893	5008	,	,		16787	0.0417		0.1312	False		,,,				2504	0.1748				p.R120R		Atlas-SNP	.											.	RIPK4	151	.	0			c.A360C						PASS	.	G		748,3658	756.3+/-412.6	61,626,1516	80	72	75		360	-5.7	0	21	dbSNP_121	75	1160,7440	765.2+/-407.6	87,986,3227	no	coding-synonymous	RIPK4	NM_020639.2		148,1612,4743	GG,GT,TT		13.4884,16.9768,14.6702		120/785	43176799	1908,11098	2203	4300	6503	SO:0001819	synonymous_variant	54101	exon2			GATGATTCGGAAC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.360A>C	21.37:g.43176799T>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_020639	Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																				T|0.869;G|0.131	0.131	strong		0.627	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		G	43176799	T	G	43176799	2	3	22	1	0	0	0	0	0	0	0	1	13383	1770	62	5		5	RIPK4	21	43176799	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15033	43176799	4953096	10714	15822										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43176832	43176832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccatggcaatggctccgaAgccagcagcttttccaggga	11	13	0	0	rs2277791	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43176832A>G	ENST00000352483.2	-	2	391	c.327T>C	c.(325-327)gcT>gcC	p.A109A	RIPK4_ENST00000544709.1_Silent_p.A46A|RIPK4_ENST00000332512.3_Silent_p.A109A|RIPK4_ENST00000542057.1_Silent_p.A46A			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGGCTCCGAAGCCAGCAGCT	0.607													G|||	631	0.125998	0.171	0.0879	5008	,	,		19419	0.0417		0.1302	False		,,,				2504	0.1748				p.A109A		Atlas-SNP	.											.	RIPK4	151	.	0			c.T327C						PASS	.	G		749,3657	756.2+/-412.6	61,627,1515	81	76	78		327	0.9	0	21	dbSNP_100	78	1160,7440	765.2+/-407.6	86,988,3226	no	coding-synonymous	RIPK4	NM_020639.2		147,1615,4741	GG,GA,AA		13.4884,16.9995,14.6778		109/785	43176832	1909,11097	2203	4300	6503	SO:0001819	synonymous_variant	54101	exon2			CTCCGAAGCCAGC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.327T>C	21.37:g.43176832A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	106	46	0.433962	NM_020639	Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																				A|0.872;G|0.128	0.128	strong		0.607	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		G	43176832	A	G	43176832	2	3	22	1	0	0	0	0	0	0	0	1	13383	59	3	3		3	RIPK4	21	43176832	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	33	43176832	4953063	10715	15823										
PRDM15	63977	hgsc.bcm.edu	37	chr21	43236176	43236176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcatgtggtggcgcagcgcGtgcttggtcttcatgccttc	13	11	3	0	rs4075967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43236176G>A	ENST00000269844.3	-	26	3485	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	PRDM15_ENST00000422911.1_Silent_p.H816H|PRDM15_ENST00000447207.2_Silent_p.H759H|PRDM15_ENST00000398548.1_Silent_p.H796H|PRDM15_ENST00000538201.1_Silent_p.H779H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1125					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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGCGCAGCGCGTGCTTGGTCT	0.637													g|||	886	0.176917	0.1324	0.2248	5008	,	,		18307	0.2054		0.1879	False		,,,				2504	0.1626				p.H1125H		Atlas-SNP	.											.	PRDM15	110	.	0			c.C3375T						PASS	.		,	679,3727	286.0+/-278.5	51,577,1575	146	104	118		2388,3375	0.6	1	21	dbSNP_108	118	1998,6602	350.1+/-327.7	230,1538,2532	no	coding-synonymous,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	281,2115,4107	AA,AG,GG		23.2326,15.4108,20.5828	,	796/1179,1125/1508	43236176	2677,10329	2203	4300	6503	SO:0001819	synonymous_variant	63977	exon26			CAGCGCGTGCTTG	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3375C>T	21.37:g.43236176G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	175	88	0.502857	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																			G|0.802;A|0.198	0.198	strong		0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43236176	G	A	43236176	2	1	22	1	0	0	0	0	0	0	0	1	12456	1136	40	1		1	PRDM15	21	43236176	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	59344	43236176	4893719	10716	15824										
C2CD2	25966	hgsc.bcm.edu	37	chr21	43319180	43319180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctttatgctttttggcagTgcccggctccaagacactca	8	13	1	1	rs9981024	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43319180T>C	ENST00000380486.3	-	13	2093	c.1852A>G	c.(1852-1854)Act>Gct	p.T618A	C2CD2_ENST00000329623.7_Missense_Mutation_p.T463A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	618			T -> A (in dbSNP:rs9981024).			cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TTTTTGGCAGTGCCCGGCTCC	0.627													t|||	303	0.0605032	0.1452	0.0288	5008	,	,		17060	0.0387		0.0239	False		,,,				2504	0.0286				p.T618A		Atlas-SNP	.											.	C2CD2	47	.	0			c.A1852G						PASS	.	T	ALA/THR,ALA/THR	626,3780	262.8+/-265.1	58,510,1635	48	57	54		1852,1387	-3.7	0	21	dbSNP_119	54	135,8465	65.3+/-127.6	0,135,4165	yes	missense,missense	C2CD2	NM_015500.1,NM_199050.2	58,58	58,645,5800	CC,CT,TT		1.5698,14.2079,5.8511	benign,benign	618/697,463/542	43319180	761,12245	2203	4300	6503	SO:0001583	missense	25966	exon13			TGGCAGTGCCCGG	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1852A>G	21.37:g.43319180T>C	ENSP00000369853:p.Thr618Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	115	50	0.434783	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	130|130	0.05952380952380952|0.05952380952380952	84|84	0.17073170731707318|0.17073170731707318	10|10	0.027624309392265192|0.027624309392265192	24|24	0.04195804195804196|0.04195804195804196	12|12	0.0158311345646438|0.0158311345646438	t|t	0.010|0.010	-1.751969|-1.751969	0.00663|0.00663	0.142079|0.142079	0.015698|0.015698	ENSG00000157617|ENSG00000157617	ENST00000449165|ENST00000329623;ENST00000380486	.|T;T	.|0.39787	.|1.06;1.06	4.67|4.67	-3.68|-3.68	0.04463|0.04463	.|.	.|1.139230	.|0.06249	.|N	.|0.691768	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.26467|0.26467	-1.0102|-1.0102	4|9	.|0.20046	.|T	.|0.44	-0.6039|-0.6039	14.4289|14.4289	0.67236|0.67236	0.0:0.2751:0.0:0.7249|0.0:0.2751:0.0:0.7249	rs9981024;rs9981024|rs9981024;rs9981024	.|618	.|Q9Y426	.|CU025_HUMAN	R|A	103|463;618	.|ENSP00000329302:T463A;ENSP00000369853:T618A	.|ENSP00000329302:T463A	H|T	-|-	2|1	0|0	C2CD2|C2CD2	42192249|42192249	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.874000|-0.874000	0.04210|0.04210	-0.968000|-0.968000	0.03578|0.03578	-1.070000|-1.070000	0.02257|0.02257	CAC|ACT	T|0.938;C|0.062	0.062	strong		0.627	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		C	43319180	T	C	43319180	3	2	22	1	0	0	0	0	1	0	0	0	2152	1696	59	2	246	2	C2CD2	21	43319180	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	83004	43319180	4810715	10717	15825										
C2CD2	25966	hgsc.bcm.edu	37	chr21	43319214	43319214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acactcatggagctctctgaCagctcatcaccgtcggggtc	10	14	4	1	rs9985096	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43319214C>T	ENST00000380486.3	-	13	2059	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	C2CD2_ENST00000329623.7_Silent_p.L451L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	606						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCTCTCTGACAGCTCATCAC	0.637													C|||	301	0.0601038	0.1445	0.0288	5008	,	,		17253	0.0387		0.0239	False		,,,				2504	0.0276				p.L606L		Atlas-SNP	.											.	C2CD2	47	.	0			c.G1818A						PASS	.	C	,	628,3778	265.6+/-266.7	57,514,1632	46	51	49		1818,1353	3.3	1	21	dbSNP_119	49	134,8466	66.0+/-128.3	0,134,4166	no	coding-synonymous,coding-synonymous	C2CD2	NM_015500.1,NM_199050.2	,	57,648,5798	TT,TC,CC		1.5581,14.2533,5.8588	,	606/697,451/542	43319214	762,12244	2203	4300	6503	SO:0001819	synonymous_variant	25966	exon13			CTCTGACAGCTCA	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1818G>A	21.37:g.43319214C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	110	50	0.454545	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	CCDS42933.1	130	0.05952380952380952	84	0.17073170731707318	10	0.027624309392265192	24	0.04195804195804196	12	0.0158311345646438	C	5.943	0.357917	0.11239	0.142533	0.015581	ENSG00000157617	ENST00000449165	.	.	.	5.09	3.26	0.37387	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.06338	-1.0832	3	.	.	.	-22.8353	11.306	0.49336	0.0:0.7926:0.0:0.2074	rs9985096;rs9985096	.	.	.	I	92	.	.	V	-	1	0	C2CD2	42192283	0.869000	0.29996	0.986000	0.45419	0.498000	0.33706	-0.031000	0.12287	0.643000	0.30638	-0.217000	0.12591	GTC	C|0.938;T|0.062	0.062	strong		0.637	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43319214	C	T	43319214	2	4	22	1	0	0	0	0	0	0	0	1	2152	465	17	2		2	C2CD2	21	43319214	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34	43319214	4810681	10718	15826										
C2CD2	25966	hgsc.bcm.edu	37	chr21	43327117	43327117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaccagagctcagcggggaCgccctccccacgtcgacgcg	12	18	2	1	rs2277795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43327117C>T	ENST00000380486.3	-	10	1543	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	C2CD2_ENST00000329623.7_Silent_p.A279A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	434						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAGCGGGGACGCCCTCCCCA	0.582													C|||	1507	0.300919	0.5545	0.1527	5008	,	,		18310	0.2728		0.1471	False		,,,				2504	0.2505				p.A434A		Atlas-SNP	.											.	C2CD2	47	.	0			c.G1302A						PASS	.	C	,	2195,2211	587.9+/-386.8	551,1093,559	81	67	72		1302,837	-4.9	0.9	21	dbSNP_100	72	1278,7322	254.6+/-279.8	101,1076,3123	no	coding-synonymous,coding-synonymous	C2CD2	NM_015500.1,NM_199050.2	,	652,2169,3682	TT,TC,CC		14.8605,49.8184,26.7031	,	434/697,279/542	43327117	3473,9533	2203	4300	6503	SO:0001819	synonymous_variant	25966	exon10			CGGGGACGCCCTC	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1302G>A	21.37:g.43327117C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	CCDS42933.1																																																																																			C|0.714;T|0.286	0.286	strong		0.582	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43327117	C	T	43327117	2	4	22	1	0	0	0	0	0	0	0	1	2152	523	19	1		1	C2CD2	21	43327117	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7903	43327117	4802778	10719	15827										
C2CD2	25966	hgsc.bcm.edu	37	chr21	43327856	43327856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccagaaggctgcttcttAaataagtccagaggaactgt	11	9	1	2	rs3746906	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43327856A>G	ENST00000380486.3	-	9	1297	c.1056T>C	c.(1054-1056)ttT>ttC	p.F352F	C2CD2_ENST00000329623.7_Silent_p.F197F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	352						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCTGCTTCTTAAATAAGTCCA	0.622													A|||	3042	0.607428	0.6248	0.5159	5008	,	,		17172	0.5923		0.6491	False		,,,				2504	0.6217				p.F352F		Atlas-SNP	.											.	C2CD2	47	.	0			c.T1056C						PASS	.	A	,	2707,1699	639.3+/-397.1	838,1031,334	34	38	37		1056,591	-0.9	0.9	21	dbSNP_107	37	5543,3057	645.7+/-400.2	1784,1975,541	no	coding-synonymous,coding-synonymous	C2CD2	NM_015500.1,NM_199050.2	,	2622,3006,875	GG,GA,AA		35.5465,38.5611,36.5677	,	352/697,197/542	43327856	8250,4756	2203	4300	6503	SO:0001819	synonymous_variant	25966	exon9			CTTCTTAAATAAG	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1056T>C	21.37:g.43327856A>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	CCDS42933.1																																																																																			A|0.367;G|0.633	0.633	strong		0.622	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		G	43327856	A	G	43327856	2	3	22	1	0	0	0	0	0	0	0	1	2152	359	13	2		2	C2CD2	21	43327856	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	739	43327856	4802039	10720	15828										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43524188	43524188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattgaccggcaggggacaCgcgtgcaaggtatggcccag	16	10	0	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43524188C>T	ENST00000408910.2	+	9	1510	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.R504C|UMODL1_ENST00000400424.2_Missense_Mutation_p.R432C|UMODL1_ENST00000400427.1_Missense_Mutation_p.R432C	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	504	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAGGGGACACGCGTGCAAGG	0.587																																					p.R504C	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.C1510T						PASS	.						48	50	49					21																	43524188		2203	4300	6503	SO:0001583	missense	89766	exon9			GGGACACGCGTGC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1510C>T	21.37:g.43524188C>T	ENSP00000386147:p.Arg504Cys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	7	0.148936	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	8.034	0.762462	0.15914	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;T;D;T	0.82167	-1.58;-0.65;-1.58;-0.67	3.67	0.744	0.18353	.	4.413020	0.00541	N	0.000220	D	0.85331	0.5672	L	0.47716	1.5	0.09310	N	0.999994	D;D;P	0.67145	0.98;0.996;0.939	P;P;P	0.59703	0.711;0.862;0.513	T	0.67321	-0.5700	10	0.37606	T	0.19	0.2373	4.6354	0.12521	0.0:0.4456:0.3484:0.206	.	432;504;504	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	C	432;432;504;504	ENSP00000383279:R432C;ENSP00000383276:R432C;ENSP00000386126:R504C;ENSP00000386147:R504C	ENSP00000383276:R432C	R	+	1	0	UMODL1	42397257	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.543000	0.06084	0.140000	0.18849	0.655000	0.94253	CGC	.	.	none		0.587	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43524188	C	T	43524188	3	4	22	1	0	0	0	0	1	0	0	0	16977	536	19	1	1544	1	UMODL1	21	43524188	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	196332	43524188	4605707	10721	15829										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43531325	43531325	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagccaggggagcctcagaCaggagagtaccagccaggcg	15	13	1	2	rs114358105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43531325C>T	ENST00000408910.2	+	11	1899				UMODL1_ENST00000400427.1_Nonsense_Mutation_p.Q593*|UMODL1_ENST00000400424.2_Intron|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.Q665*|C21orf128_ENST00000329015.2_5'Flank	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGCCTCAGACAGGAGAGTAC	0.716													C|||	102	0.0203674	0.0378	0.0144	5008	,	,		10893	0.0		0.0119	False		,,,				2504	0.0307				p.Q665X	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.C1993T						PASS	.	C	,stop/GLN,,stop/GLN	85,3533		0,85,1724	5	8	7		,1777,,1993	-0.5	0	21	dbSNP_132	7	101,7793		0,101,3846	no	intron,stop-gained,intron,stop-gained	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,186,5570	TT,TC,CC		1.2795,2.3494,1.6157	,,,	,593/1375,,665/1447	43531325	186,11326	1809	3947	5756	SO:0001627	intron_variant	89766	exon11			CTCAGACAGGAGA		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+94C>T	21.37:g.43531325C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	43	24	0.55814	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	34	0.015567765567765568	18	0.036585365853658534	7	0.019337016574585635	0	0.0	9	0.011873350923482849	C	24.3	4.516105	0.85495	0.023494	0.012795	ENSG00000177398	ENST00000400427;ENST00000408989	.	.	.	1.9	-0.51	0.11973	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	3.6921	0.08350	0.0:0.3661:0.4365:0.1973	.	.	.	.	X	593;665	.	ENSP00000383279:Q593X	Q	+	1	0	UMODL1	42404394	0.032000	0.19561	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	0.138000	0.18790	0.609000	0.83330	CAG	C|0.985;T|0.015	0.015	strong		0.716	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43531325	C	T	43531325	1	4	22	0	1	0	0	0	0	0	0	0	16977	479	17	2		2	UMODL1	21	43531325	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7137	43531325	4598570	10722	15830										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43536047	43536047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactcagaatcctttcgcaaCgcaagcagccaggagtatcg	9	12	1	1	rs141581454	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43536047C>T	ENST00000408910.2	+	14	2427	c.2427C>T	c.(2425-2427)aaC>aaT	p.N809N	UMODL1_ENST00000400427.1_Silent_p.N865N|UMODL1_ENST00000400424.2_Silent_p.N737N|UMODL1_ENST00000408989.2_Silent_p.N937N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	809	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTTTCGCAACGCAAGCAGCC	0.468													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		17984	0.0		0.0	False		,,,				2504	0.0				p.N937N	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.C2811T						PASS	.	C	,,,	20,3852		0,20,1916	96	98	97		2427,2595,2211,2811	-6.4	0	21	dbSNP_134	97	0,8284		0,0,4142	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,20,6058	TT,TC,CC		0.0,0.5165,0.1645	,,,	809/1319,865/1375,737/1247,937/1447	43536047	20,12136	1936	4142	6078	SO:0001819	synonymous_variant	89766	exon13			TCGCAACGCAAGC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2427C>T	21.37:g.43536047C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	233	116	0.497854	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			C|0.998;T|0.002	0.002	strong		0.468	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43536047	C	T	43536047	2	4	22	1	0	0	0	0	0	0	0	1	16977	535	19	1		1	UMODL1	21	43536047	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4722	43536047	4593848	10723	15831										
TMPRSS3	64699	hgsc.bcm.edu	37	chr21	43803167	43803167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacagtgtgcagcagtgaTgatccacaggggcgtgatga	14	8	0	4	rs2839500	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43803167T>C	ENST00000291532.3	-	8	1712	c.757A>G	c.(757-759)Atc>Gtc	p.I253V	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I253V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I251V|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I337V|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I253V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		I -> V (in dbSNP:rs2839500). {ECO:0000269|PubMed:11424922}.		cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCAGCAGTGATGATCCACAGG	0.592													C|||	1208	0.241214	0.3041	0.134	5008	,	,		20674	0.3323		0.1113	False		,,,				2504	0.272				p.I253V		Atlas-SNP	.											.	TMPRSS3	40	.	0			c.A757G						PASS	.	C	VAL/ILE,VAL/ILE	1196,3210	708.6+/-407.6	161,874,1168	75	64	68	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	757,757	4.6	0.5	21	dbSNP_100	68	887,7713	778.9+/-407.7	37,813,3450	yes	missense,missense	TMPRSS3	NM_024022.2,NM_032405.1	29,29	198,1687,4618	CC,CT,TT		10.314,27.1448,16.0157	benign,benign	253/455,253/345	43803167	2083,10923	2203	4300	6503	SO:0001583	missense	64699	exon8			CAGTGATGATCCA	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.757A>G	21.37:g.43803167T>C	ENSP00000291532:p.Ile253Val	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	82	48	0.585366	NM_001256317	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	494	0.2261904761904762	154	0.3130081300813008	54	0.14917127071823205	203	0.3548951048951049	83	0.10949868073878628	C	0.696	-0.792701	0.02884	0.271448	0.10314	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	T;T;T;T;T	0.80994	0.25;-1.44;-1.44;0.25;-1.44	5.5	4.59	0.56863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159777	0.42053	N	0.000763	T	0.00012	0.0000	N	0.11698	0.16	0.58432	P	1.999999999946489E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.14980	-1.0453	8	.	.	.	.	8.2005	0.31421	0.0:0.5343:0.3254:0.1403	rs2839500;rs52817606;rs60045807;rs2839500	253;253;253	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	V	253;253;251;337;253	ENSP00000291532:I253V;ENSP00000411013:I253V;ENSP00000381442:I251V;ENSP00000369762:I337V;ENSP00000381434:I253V	.	I	-	1	0	TMPRSS3	42676236	0.025000	0.19082	0.465000	0.27155	0.794000	0.44872	0.113000	0.15499	0.658000	0.30925	-0.186000	0.12905	ATC	A|0.006;C|0.194	0.194	strong		0.592	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			C	43803167	T	C	43803167	3	2	22	1	0	0	0	0	1	0	0	0	16245	1464	51	2	714	2	TMPRSS3	21	43803167	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	267120	43803167	4326728	10724	15832										
SLC37A1	54020	hgsc.bcm.edu	37	chr21	43954850	43954850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcttgggatgaagctgacGtcaggttcagcagccagaac	13	10	2	3	rs115669950	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43954850G>A	ENST00000352133.2	+	4	1163	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	SLC37A1_ENST00000398341.3_Missense_Mutation_p.V61I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	61					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TGAAGCTGACGTCAGGTTCAG	0.602													G|||	91	0.0181709	0.0673	0.0029	5008	,	,		19958	0.0		0.0	False		,,,				2504	0.0				p.V61I		Atlas-SNP	.											.	SLC37A1	48	.	0			c.G181A						PASS	.	G	ILE/VAL	215,4191	130.6+/-167.2	6,203,1994	98	90	93		181	1.4	0	21	dbSNP_132	93	0,8600		0,0,4300	yes	missense	SLC37A1	NM_018964.3	29	6,203,6294	AA,AG,GG		0.0,4.8797,1.6531	benign	61/534	43954850	215,12791	2203	4300	6503	SO:0001583	missense	54020	exon5			GCTGACGTCAGGT	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.181G>A	21.37:g.43954850G>A	ENSP00000344648:p.Val61Ile	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	118	68	0.576271	NM_018964	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	G	3.524	-0.097237	0.07010	0.048797	0.0	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.22743	1.94;1.94	4.36	1.44	0.22558	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.175660	0.06063	N	0.658658	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.34428	-0.9829	10	0.22706	T	0.39	-15.6473	2.5906	0.04841	0.1086:0.2627:0.4637:0.165	.	61	P57057	GLPT_HUMAN	I	61	ENSP00000381383:V61I;ENSP00000344648:V61I	ENSP00000344648:V61I	V	+	1	0	SLC37A1	42827919	0.009000	0.17119	0.000000	0.03702	0.010000	0.07245	1.076000	0.30729	0.170000	0.19704	0.655000	0.94253	GTC	G|0.984;A|0.016	0.016	strong		0.602	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			A	43954850	G	A	43954850	3	1	22	1	0	0	0	0	1	0	0	0	14597	1145	40	1	191	1	SLC37A1	21	43954850	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	151683	43954850	4175045	10725	15833										
SLC37A1	54020	hgsc.bcm.edu	37	chr21	43974226	43974226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgagactccagaagcaaatcTtgaagagcgaaaagaacaag	10	7	1	5	rs2839550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:43974226T>C	ENST00000352133.2	+	10	1805	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L	SLC37A1_ENST00000398341.3_Silent_p.L275L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	275					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAAGCAAATCTTGAAGAGCGA	0.433													T|||	622	0.124201	0.3275	0.0893	5008	,	,		17220	0.001		0.1054	False		,,,				2504	0.0204				p.L275L		Atlas-SNP	.											.	SLC37A1	48	.	0			c.T823C						PASS	.	T		1207,3199	417.4+/-337.9	172,863,1168	61	57	58		823	-5.1	0	21	dbSNP_100	58	812,7788	188.1+/-235.2	33,746,3521	no	coding-synonymous	SLC37A1	NM_018964.3		205,1609,4689	CC,CT,TT		9.4419,27.3945,15.5236		275/534	43974226	2019,10987	2203	4300	6503	SO:0001819	synonymous_variant	54020	exon11			CAAATCTTGAAGA	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.823T>C	21.37:g.43974226T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	57	36	0.631579	NM_018964	D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	CCDS13689.1																																																																																			T|0.848;C|0.152	0.152	strong		0.433	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			C	43974226	T	C	43974226	2	2	22	1	0	0	0	0	0	0	0	1	14597	1606	56	3		3	SLC37A1	21	43974226	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	19376	43974226	4155669	10726	15834										
PDE9A	5152	hgsc.bcm.edu	37	chr21	44179112	44179112	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctcctgtgcccacagatgCtgagctgcctggagcacatg	11	13	1	2	rs146382324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44179112C>G	ENST00000291539.6	+	11	874	c.814C>G	c.(814-816)Ctg>Gtg	p.L272V	PDE9A_ENST00000398236.3_Missense_Mutation_p.L186V|PDE9A_ENST00000335440.6_Missense_Mutation_p.L170V|PDE9A_ENST00000335512.4_Missense_Mutation_p.L212V|PDE9A_ENST00000539837.1_Missense_Mutation_p.L144V|PDE9A_ENST00000398229.3_Missense_Mutation_p.L138V|PDE9A_ENST00000328862.6_Missense_Mutation_p.L246V|PDE9A_ENST00000398225.3_Missense_Mutation_p.L231V|PDE9A_ENST00000398224.3_Missense_Mutation_p.L145V|PDE9A_ENST00000398234.3_Missense_Mutation_p.L171V|PDE9A_ENST00000398227.3_Missense_Mutation_p.L112V|PDE9A_ENST00000380328.2_Missense_Mutation_p.L219V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Missense_Mutation_p.L144V|PDE9A_ENST00000398232.3_Missense_Mutation_p.L205V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	272					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CCCACAGATGCTGAGCTGCCT	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19507	0.0		0.0	False		,,,				2504	0.0				p.L272V		Atlas-SNP	.											.	PDE9A	69	.	0			c.C814G						PASS	.	C	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	11,4395	17.9+/-39.9	0,11,2192	81	65	71		634,433,430,655,511,193,193,556,334,163,412,508,193,163,613,691,736,193,193,814	5.1	1	21	dbSNP_134	71	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	32,32,32,32,32,32,32,32,32,32,32,32,32,32,32,32,32,32,32,32	0,11,6492	GG,GC,CC		0.0,0.2497,0.0846	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	212/534,145/467,144/466,219/541,171/493,65/387,65/387,186/508,112/434,55/377,138/460,170/492,65/387,55/377,205/527,231/553,246/568,65/387,65/387,272/594	44179112	11,12995	2203	4300	6503	SO:0001583	missense	5152	exon11			CAGATGCTGAGCT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.814C>G	21.37:g.44179112C>G	ENSP00000291539:p.Leu272Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	133	71	0.533835	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.52	3.641532	0.67244	0.002497	0.0	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.1	5.1	0.69264	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.53780	1.695	0.52099	D	0.999942	B;B;B;B;B;B;P;B;B;B;B;B;P;B;B;B	0.38597	0.079;0.101;0.101;0.237;0.101;0.161;0.639;0.237;0.101;0.101;0.237;0.11;0.579;0.441;0.101;0.027	B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B	0.48030	0.092;0.064;0.102;0.092;0.162;0.319;0.564;0.216;0.064;0.064;0.092;0.158;0.442;0.216;0.102;0.048	T	0.81147	-0.1065	10	0.66056	D	0.02	.	18.5908	0.91212	0.0:1.0:0.0:0.0	.	144;205;186;171;246;231;164;212;55;112;138;144;170;219;145;272	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	212;144;272;219;205;171;186;246;170;231;138;112;144;145	ENSP00000335242:L212V;ENSP00000441899:L144V;ENSP00000291539:L272V;ENSP00000369685:L219V;ENSP00000381287:L205V;ENSP00000381289:L171V;ENSP00000381291:L186V;ENSP00000328699:L246V;ENSP00000335365:L170V;ENSP00000381281:L231V;ENSP00000381285:L138V;ENSP00000381283:L112V;ENSP00000344730:L144V;ENSP00000381280:L145V	ENSP00000291539:L272V	L	+	1	2	PDE9A	43052181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.526000	0.60566	2.388000	0.81334	0.650000	0.86243	CTG	C|0.999;G|0.001	0.001	strong		0.637	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			G	44179112	C	G	44179112	3	3	22	1	0	0	0	0	1	0	0	0	11655	796	28	4	936	4	PDE9A	21	44179112	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	204886	44179112	3950783	10727	15835										
PDE9A	5152	hgsc.bcm.edu	37	chr21	44189166	44189166	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagaagtcagaaggccttccTgtggcaccgttcatggaccg					rs1045382	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44189166T>C	ENST00000291539.6	+	17	1551	c.1491T>C	c.(1489-1491)ccT>ccC	p.P497P	PDE9A_ENST00000335440.6_Silent_p.P395P|PDE9A_ENST00000335512.4_Silent_p.P437P|PDE9A_ENST00000539837.1_Silent_p.P369P|PDE9A_ENST00000398229.3_Silent_p.P363P|PDE9A_ENST00000328862.6_Silent_p.P471P|PDE9A_ENST00000398225.3_Silent_p.P456P|PDE9A_ENST00000398224.3_Silent_p.P370P|PDE9A_ENST00000398236.3_Silent_p.P411P|PDE9A_ENST00000398234.3_Silent_p.P396P|PDE9A_ENST00000398227.3_Silent_p.P337P|PDE9A_ENST00000380328.2_Silent_p.P444P|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Silent_p.P369P|PDE9A_ENST00000398232.3_Silent_p.P430P	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	497	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AAGGCCTTCCTGTGGCACCGT	0.512													C|||	2569	0.512979	0.6853	0.4352	5008	,	,		24371	0.4236		0.3718	False		,,,				2504	0.5726				p.P497P		Atlas-SNP	.											.	PDE9A	69	.	0			c.T1491C						PASS	.	C	,,,,,,,,,,,,,,,,,,,	2761,1645	502.9+/-365.4	856,1049,298	171	147	155		1311,1110,1107,1332,1188,870,870,1233,1011,840,1089,1185,870,840,1290,1368,1413,870,870,1491	-9.5	0.1	21	dbSNP_86	155	3112,5488	658.8+/-401.6	587,1938,1775	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,,,,,,	1443,2987,2073	CC,CT,TT		36.186,37.3355,45.1561	,,,,,,,,,,,,,,,,,,,	437/534,370/467,369/466,444/541,396/493,290/387,290/387,411/508,337/434,280/377,363/460,395/492,290/387,280/377,430/527,456/553,471/568,290/387,290/387,497/594	44189166	5873,7133	2203	4300	6503	SO:0001819	synonymous_variant	5152	exon17			CCTTCCTGTGGCA	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1491T>C	21.37:g.44189166T>C		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	156	155	0.99359	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	CCDS13690.1																																																																																			T|0.555;C|0.445	0.445	strong		0.512	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			C	44189166	T	C	44189166	2	2	22	1	0	0	0	0	0	0	0	1	11655	1567	55	3		3	PDE9A	21	44189166	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	10054	44189166	3940729	10728	15836	337	2								
PDE9A	5152	hgsc.bcm.edu	37	chr21	44189172	44189172	+	Silent	SNP	A	A	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagaaggccttcctgtggcAccgttcatggaccgagacaa					rs3087994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44189172A>C	ENST00000291539.6	+	17	1557	c.1497A>C	c.(1495-1497)gcA>gcC	p.A499A	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Silent_p.A439A|PDE9A_ENST00000398224.3_Silent_p.A372A|PDE9A_ENST00000539837.1_Silent_p.A371A|PDE9A_ENST00000398227.3_Silent_p.A339A|PDE9A_ENST00000398232.3_Silent_p.A432A|PDE9A_ENST00000335440.6_Silent_p.A397A|PDE9A_ENST00000398234.3_Silent_p.A398A|PDE9A_ENST00000398225.3_Silent_p.A458A|PDE9A_ENST00000380328.2_Silent_p.A446A|PDE9A_ENST00000398229.3_Silent_p.A365A|PDE9A_ENST00000349112.3_Silent_p.A371A|PDE9A_ENST00000398236.3_Silent_p.A413A|PDE9A_ENST00000328862.6_Silent_p.A473A	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	499	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TTCCTGTGGCACCGTTCATGG	0.507													C|||	2524	0.503994	0.6551	0.4308	5008	,	,		24250	0.4226		0.3708	False		,,,				2504	0.5726				p.A499A		Atlas-SNP	.											.	PDE9A	69	.	0			c.A1497C						PASS	.	C	,,,,,,,,,,,,,,,,,,,	2643,1763	522.5+/-370.8	784,1075,344	182	152	162		1317,1116,1113,1338,1194,876,876,1239,1017,846,1095,1191,876,846,1296,1374,1419,876,876,1497	1.4	1	21	dbSNP_102	162	3112,5488	658.7+/-401.6	587,1938,1775	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,,,,,,	1371,3013,2119	CC,CA,AA		36.186,40.0136,44.2488	,,,,,,,,,,,,,,,,,,,	439/534,372/467,371/466,446/541,398/493,292/387,292/387,413/508,339/434,282/377,365/460,397/492,292/387,282/377,432/527,458/553,473/568,292/387,292/387,499/594	44189172	5755,7251	2203	4300	6503	SO:0001819	synonymous_variant	5152	exon17			TGTGGCACCGTTC	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1497A>C	21.37:g.44189172A>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	156	156	1	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	CCDS13690.1																																																																																			T|0.000;G|0.000;C|0.437;A|0.562	0.437	strong		0.507	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			C	44189172	A	C	44189172	2	2	22	1	0	0	0	0	0	0	0	1	11655	146	6	5		5	PDE9A	21	44189172	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	44189172	3940723	10729	15837	337	2								
PDE9A	5152	hgsc.bcm.edu	37	chr21	44192574	44192574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagaagactgacagcttgaCgtctggggccaccgagaagt	14	9	1	5	rs147305658	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44192574C>T	ENST00000291539.6	+	19	1772	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M	PDE9A_ENST00000335440.6_Missense_Mutation_p.T469M|PDE9A_ENST00000335512.4_Missense_Mutation_p.T511M|PDE9A_ENST00000539837.1_Missense_Mutation_p.T443M|PDE9A_ENST00000398229.3_Missense_Mutation_p.T437M|PDE9A_ENST00000328862.6_Missense_Mutation_p.T545M|PDE9A_ENST00000398225.3_Missense_Mutation_p.T530M|PDE9A_ENST00000398224.3_Missense_Mutation_p.T444M|PDE9A_ENST00000398236.3_Missense_Mutation_p.T485M|PDE9A_ENST00000398234.3_Missense_Mutation_p.T470M|PDE9A_ENST00000398227.3_Missense_Mutation_p.T411M|PDE9A_ENST00000380328.2_Missense_Mutation_p.T518M|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Missense_Mutation_p.T443M|PDE9A_ENST00000398232.3_Missense_Mutation_p.T504M	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	571					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GACAGCTTGACGTCTGGGGCC	0.527													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18440	0.0		0.0	False		,,,				2504	0.0				p.T571M		Atlas-SNP	.											.	PDE9A	69	.	0			c.C1712T						PASS	.	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	23,4381	29.9+/-59.1	0,23,2179	68	55	59		1532,1331,1328,1553,1409,1091,1091,1454,1232,1061,1310,1406,1091,1061,1511,1589,1634,1091,1091,1712	1.4	0	21	dbSNP_134	59	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,23,6479	TT,TC,CC		0.0,0.5223,0.1769	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	511/534,444/467,443/466,518/541,470/493,364/387,364/387,485/508,411/434,354/377,437/460,469/492,364/387,354/377,504/527,530/553,545/568,364/387,364/387,571/594	44192574	23,12981	2202	4300	6502	SO:0001583	missense	5152	exon19			GCTTGACGTCTGG	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1712C>T	21.37:g.44192574C>T	ENSP00000291539:p.Thr571Met	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	62	38	0.612903	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.057	0.767372	0.15983	0.005223	0.0	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.4;-0.39;-0.42;-0.41;-0.44;-0.4;-0.4;-0.43;-0.41;-0.42;-0.4;-0.4;-0.39;-0.4	3.3	1.42	0.22433	.	2.420000	0.01711	N	0.027724	T	0.45756	0.1358	L	0.32530	0.975	0.09310	N	1	P;B;B;P;P;P;B;B;B;B;B;P;B;B;B	0.45044	0.588;0.069;0.145;0.759;0.849;0.759;0.145;0.069;0.145;0.145;0.301;0.849;0.301;0.145;0.308	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36244	0.216;0.028;0.04;0.176;0.176;0.115;0.093;0.013;0.079;0.049;0.124;0.176;0.22;0.102;0.048	T	0.48055	-0.9068	10	0.48119	T	0.1	.	6.1538	0.20326	0.0:0.7003:0.1902:0.1095	.	504;485;470;545;530;463;511;354;411;437;443;469;518;444;571	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	M	511;443;571;518;504;470;485;545;469;530;437;411;443;444	ENSP00000335242:T511M;ENSP00000441899:T443M;ENSP00000291539:T571M;ENSP00000369685:T518M;ENSP00000381287:T504M;ENSP00000381289:T470M;ENSP00000381291:T485M;ENSP00000328699:T545M;ENSP00000335365:T469M;ENSP00000381281:T530M;ENSP00000381285:T437M;ENSP00000381283:T411M;ENSP00000344730:T443M;ENSP00000381280:T444M	ENSP00000291539:T571M	T	+	2	0	PDE9A	43065643	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.028000	0.13644	0.392000	0.25172	-0.234000	0.12200	ACG	C|0.999;T|0.001	0.001	strong		0.527	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			T	44192574	C	T	44192574	3	4	22	1	0	0	0	0	1	0	0	0	11655	536	19	1	1866	1	PDE9A	21	44192574	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3402	44192574	3937321	10730	15838										
WDR4	10785	hgsc.bcm.edu	37	chr21	44273691	44273691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtctcacctgccactggtcGcccacaggcctgtagagcac	10	16	1	1	rs146863277	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44273691G>A	ENST00000398208.2	-	9	1022	c.963C>T	c.(961-963)ggC>ggT	p.G321G	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.G321G	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GCCACTGGTCGCCCACAGGCC	0.622													G|||	23	0.00459265	0.0151	0.0029	5008	,	,		15951	0.0		0.001	False		,,,				2504	0.0				p.G321G		Atlas-SNP	.											.	WDR4	35	.	0			c.C963T						PASS	.	G	,	65,4339	56.2+/-92.4	1,63,2138	26	26	26		963,963	-6	0	21	dbSNP_134	26	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	WDR4	NM_018669.4,NM_033661.3	,	1,66,6435	AA,AG,GG		0.0349,1.4759,0.5229	,	321/413,321/413	44273691	68,12936	2202	4300	6502	SO:0001819	synonymous_variant	10785	exon9			CTGGTCGCCCACA	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.963C>T	21.37:g.44273691G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	69	43	0.623188	NM_018669		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																			G|0.995;A|0.005	0.005	strong		0.622	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			A	44273691	G	A	44273691	2	1	22	1	0	0	0	0	0	0	0	1	17290	1074	38	1		1	WDR4	21	44273691	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	81117	44273691	3856204	10731	15839										
WDR4	10785	hgsc.bcm.edu	37	chr21	44283574	44283574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctaacagcatagacaggtgCcccagctctagacggccaca	9	14	2	2	rs11911090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:44283574C>T	ENST00000398208.2	-	4	488	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WDR4_ENST00000330317.2_Silent_p.G143G|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TAGACAGGTGCCCCAGCTCTA	0.612													C|||	386	0.0770767	0.18	0.049	5008	,	,		18189	0.001		0.0606	False		,,,				2504	0.0532				p.G143G		Atlas-SNP	.											.	WDR4	35	.	0			c.G429A						PASS	.	C	,	788,3618	318.2+/-295.5	69,650,1484	149	123	132		429,429	-7.7	0.2	21	dbSNP_120	132	758,7842	181.3+/-230.0	39,680,3581	no	coding-synonymous,coding-synonymous	WDR4	NM_018669.4,NM_033661.3	,	108,1330,5065	TT,TC,CC		8.814,17.8847,11.8868	,	143/413,143/413	44283574	1546,11460	2203	4300	6503	SO:0001819	synonymous_variant	10785	exon4			CAGGTGCCCCAGC	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.429G>A	21.37:g.44283574C>T		Somatic	187	1	0.00534759		WXS	Illumina HiSeq	Phase_I	187	102	0.545455	NM_018669		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																			C|0.895;T|0.105	0.105	strong		0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			T	44283574	C	T	44283574	2	4	22	1	0	0	0	0	0	0	0	1	17290	726	26	2		2	WDR4	21	44283574	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9883	44283574	3846321	10732	15840										
CSTB	1476	hgsc.bcm.edu	37	chr21	45196136	45196136	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccggctgcgtggcggagggCgccccgcacatcatcttggc	16	15	2	0	rs4533	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45196136C>A	ENST00000291568.5	-	1	190	c.15G>T	c.(13-15)gcG>gcT	p.A5A		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	5					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TGGCGGAGGGCGCCCCGCACA	0.746													C|||	86	0.0171725	0.062	0.0058	5008	,	,		9141	0.0		0.0	False		,,,				2504	0.0				p.A5A	Esophageal Squamous(58;831 1093 17019 29789 35147)	Atlas-SNP	.											.	CSTB	3	.	0			c.G15T						PASS	.	C		142,3048		0,142,1453	4	7	6		15	1.4	0	21	dbSNP_52	6	2,5900		0,2,2949	no	coding-synonymous	CSTB	NM_000100.2		0,144,4402	AA,AC,CC		0.0339,4.4514,1.5838		5/99	45196136	144,8948	1595	2951	4546	SO:0001819	synonymous_variant	1476	exon1			GGAGGGCGCCCCG	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.15G>T	21.37:g.45196136C>A		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	28	16	0.571429	NM_000100		Silent	SNP	ENST00000291568.5	37	CCDS13701.1																																																																																			C|0.988;A|0.012	0.012	strong		0.746	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		A	45196136	C	A	45196136	2	1	22	1	0	0	0	0	0	0	0	1	3982	755	27	4		4	CSTB	21	45196136	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	912562	45196136	2933759	10733	15841										
RRP1	8568	hgsc.bcm.edu	37	chr21	45219524	45219524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggacagtggcggccccgtTctccaggtgggttccctggg	17	12	1	0	rs4566449	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45219524T>C	ENST00000497547.1	+	9	1002	c.885T>C	c.(883-885)gtT>gtC	p.V295V	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GCGGCCCCGTTCTCCAGGTGG	0.642													C|||	1747	0.348842	0.4213	0.3415	5008	,	,		14283	0.3175		0.2078	False		,,,				2504	0.4335				p.V295V		Atlas-SNP	.											.	RRP1	23	.	0			c.T885C						PASS	.	C		1553,2591		300,953,819	48	65	59		885	-3.6	0	21	dbSNP_111	59	1989,6443		252,1485,2479	no	coding-synonymous	RRP1	NM_003683.5		552,2438,3298	CC,CT,TT		23.5887,37.4759,28.1648		295/462	45219524	3542,9034	2072	4216	6288	SO:0001819	synonymous_variant	8568	exon9			CCCCGTTCTCCAG	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.885T>C	21.37:g.45219524T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	152	82	0.539474	NM_003683	A6NIB2	Silent	SNP	ENST00000497547.1	37	CCDS42951.1																																																																																			T|0.688;C|0.312	0.312	strong		0.642	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		C	45219524	T	C	45219524	2	2	22	1	0	0	0	0	0	0	0	1	13685	1770	62	2		2	RRP1	21	45219524	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	23388	45219524	2910371	10734	15842										
RRP1	8568	hgsc.bcm.edu	37	chr21	45220483	45220483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacagaaagcgtctctacaAagtgatccggaagtgagtgt	12	7	1	3	rs915770	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45220483A>G	ENST00000497547.1	+	10	1094	c.977A>G	c.(976-978)aAa>aGa	p.K326R	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K326R(1)		central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CGTCTCTACAAAGTGATCCGG	0.537													A|||	1310	0.261581	0.3366	0.3012	5008	,	,		19266	0.2292		0.1581	False		,,,				2504	0.272				p.K326R		Atlas-SNP	.											RRP1,NS,carcinoma,0,1	RRP1	23	1	1	Substitution - Missense(1)	stomach(1)	c.A977G						PASS	.	A	ARG/LYS	1270,2840		202,866,987	53	56	55		977	5.2	1	21	dbSNP_86	55	1478,6904		139,1200,2852	yes	missense	RRP1	NM_003683.5	26	341,2066,3839	GG,GA,AA		17.633,30.9002,21.9981	possibly-damaging	326/462	45220483	2748,9744	2055	4191	6246	SO:0001583	missense	8568	exon10			TCTACAAAGTGAT	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.977A>G	21.37:g.45220483A>G	ENSP00000417464:p.Lys326Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_003683	A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	CCDS42951.1	500	0.22893772893772893	163	0.3313008130081301	86	0.23756906077348067	134	0.23426573426573427	117	0.15435356200527706	A	17.93	3.509174	0.64410	0.309002	0.17633	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.01215	5.16	5.2	5.2	0.72013	.	0.469084	0.25256	N	0.031994	T	0.00012	0.0000	L	0.52823	1.66	0.23906	P	0.99650116	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.56751	-0.7927	9	0.87932	D	0	.	11.4934	0.50394	1.0:0.0:0.0:0.0	rs915770;rs58923119;rs915770	326;326	B4DZM3;P56182	.;RRP1_HUMAN	R	326	ENSP00000417464:K326R	ENSP00000383237:K326R	K	+	2	0	RRP1	44044911	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	1.606000	0.36826	1.964000	0.57103	0.533000	0.62120	AAA	A|0.767;G|0.233	0.233	strong		0.537	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		G	45220483	A	G	45220483	3	3	22	1	0	0	0	0	1	0	0	0	13685	14	1	2	1015	2	RRP1	21	45220483	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	959	45220483	2909412	10735	15843										
TRAPPC10	7109	hgsc.bcm.edu	37	chr21	45503121	45503121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctggaggagggtgcccacGtgctgaggtgcagccacgtg	17	11	1	1	rs2071152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45503121G>A	ENST00000291574.4	+	14	2351	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	726			V -> M (common polymorphism; dbSNP:rs2071152). {ECO:0000269|PubMed:9370297}.		sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGGTGCCCACGTGCTGAGGTG	0.562													G|||	1974	0.394169	0.6664	0.3012	5008	,	,		19366	0.2976		0.1541	False		,,,				2504	0.4387				p.V726M		Atlas-SNP	.											.	TRAPPC10	109	.	0			c.G2176A						PASS	.	G	MET/VAL	2696,1710	643.0+/-397.8	836,1024,343	102	99	100		2176	-1.1	0	21	dbSNP_96	100	1395,7205	264.6+/-285.7	140,1115,3045	yes	missense	TRAPPC10	NM_003274.4	21	976,2139,3388	AA,AG,GG		16.2209,38.8107,31.4547	benign	726/1260	45503121	4091,8915	2203	4300	6503	SO:0001583	missense	7109	exon14			GCCCACGTGCTGA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2176G>A	21.37:g.45503121G>A	ENSP00000291574:p.Val726Met	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	28	0.394366	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	696	0.31868131868131866	313	0.6361788617886179	95	0.26243093922651933	169	0.29545454545454547	119	0.15699208443271767	G	4.979	0.181776	0.09495	0.611893	0.162209	ENSG00000160218	ENST00000291574	T	0.23348	1.91	5.73	-1.09	0.09904	.	0.504277	0.23874	N	0.043713	T	0.00012	0.0000	N	0.11560	0.145	0.45634	P	0.00143099999999996	B;B	0.17852	0.024;0.011	B;B	0.13407	0.009;0.003	T	0.35126	-0.9801	9	0.39692	T	0.17	.	6.6404	0.22906	0.3741:0.2141:0.4119:0.0	rs2071152;rs58410301;rs2071152	26;726	B4DI17;P48553	.;TPC10_HUMAN	M	726	ENSP00000291574:V726M	ENSP00000291574:V726M	V	+	1	0	TRAPPC10	44327549	0.951000	0.32395	0.013000	0.15412	0.003000	0.03518	1.941000	0.40233	-0.108000	0.12066	-0.773000	0.03387	GTG	G|0.661;A|0.339	0.339	strong		0.562	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45503121	G	A	45503121	3	1	22	1	0	0	0	0	1	0	0	0	16454	1145	40	1	2230	1	TRAPPC10	21	45503121	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	282638	45503121	2626774	10736	15844										
TRAPPC10	7109	hgsc.bcm.edu	37	chr21	45518396	45518396	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaatctgatgagcatttttcGacaaagcttatgtatgaagg	10	5	1	3	rs115989144	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45518396G>A	ENST00000291574.4	+	21	3502	c.3327G>A	c.(3325-3327)tcG>tcA	p.S1109S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1109					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGCATTTTTCGACAAAGCTTA	0.527													G|||	12	0.00239617	0.0091	0.0	5008	,	,		20869	0.0		0.0	False		,,,				2504	0.0				p.S1109S		Atlas-SNP	.											TRAPPC10,colon,carcinoma,+1,1	TRAPPC10	109	1	0			c.G3327A						PASS	.	G		35,4371	40.8+/-73.8	0,35,2168	103	103	103		3327	-11.1	0	21	dbSNP_132	103	0,8600		0,0,4300	no	coding-synonymous	TRAPPC10	NM_003274.4		0,35,6468	AA,AG,GG		0.0,0.7944,0.2691		1109/1260	45518396	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	7109	exon21			TTTTTCGACAAAG	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3327G>A	21.37:g.45518396G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	68	39	0.573529	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																			G|0.996;A|0.004	0.004	strong		0.527	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45518396	G	A	45518396	2	1	22	1	0	0	0	0	0	0	0	1	16454	1045	37	1		1	TRAPPC10	21	45518396	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15275	45518396	2611499	10737	15845										
PWP2	5822	hgsc.bcm.edu	37	chr21	45538685	45538685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcagtggccatcaatagctCgggggactggattgcttttg	13	9	2	0	rs150440839	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45538685C>T	ENST00000291576.7	+	9	1149	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	341					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATCAATAGCTCGGGGGACTGG	0.607													C|||	13	0.00259585	0.0098	0.0	5008	,	,		16887	0.0		0.0	False		,,,				2504	0.0				p.S341L		Atlas-SNP	.											.	PWP2	64	.	0			c.C1022T						PASS	.	C	LEU/SER	38,4368	43.1+/-76.7	0,38,2165	127	99	108		1022	5.1	0.9	21	dbSNP_134	108	0,8600		0,0,4300	yes	missense	PWP2	NM_005049.2	145	0,38,6465	TT,TC,CC		0.0,0.8625,0.2922	benign	341/920	45538685	38,12968	2203	4300	6503	SO:0001583	missense	5822	exon9			ATAGCTCGGGGGA		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1022C>T	21.37:g.45538685C>T	ENSP00000291576:p.Ser341Leu	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	188	95	0.505319	NM_005049	B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	CCDS33579.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	19.96	3.924314	0.73213	0.008625	0.0	ENSG00000241945	ENST00000291576	T	0.44881	0.91	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (2);WD40-repeat-containing domain (1);	0.462069	0.24755	N	0.035863	T	0.22205	0.0535	L	0.59436	1.845	0.41576	D	0.988714	P	0.39352	0.669	B	0.27887	0.084	T	0.32214	-0.9915	10	0.49607	T	0.09	-12.9707	16.9482	0.86236	0.0:1.0:0.0:0.0	.	341	Q15269	PWP2_HUMAN	L	341	ENSP00000291576:S341L	ENSP00000291576:S341L	S	+	2	0	PWP2	44363113	1.000000	0.71417	0.933000	0.37362	0.909000	0.53808	5.017000	0.64047	2.501000	0.84356	0.555000	0.69702	TCG	C|0.996;T|0.004	0.004	strong		0.607	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		T	45538685	C	T	45538685	3	4	22	1	0	0	0	0	1	0	0	0	12844	893	31	1	1056	1	PWP2	21	45538685	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20289	45538685	2591210	10738	15846										
AIRE	326	hgsc.bcm.edu	37	chr21	45705988	45705988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccactgctgcacgcgctggcTgaccacgacgtggtccccga	12	17	0	1	rs3746964	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45705988T>C	ENST00000291582.5	+	1	226	c.99T>C	c.(97-99)gcT>gcC	p.A33A		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	33	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		ACGCGCTGGCTGACCACGACG	0.716									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				C|||	1199	0.239417	0.5651	0.1153	5008	,	,		6613	0.2788		0.0249	False		,,,				2504	0.0675				p.A33A		Atlas-SNP	.											.	AIRE	61	.	0			c.T99C						PASS	.	C		1412,2352		236,940,706	6	6	6		99	-2.6	0.9	21	dbSNP_107	6	125,7321		2,121,3600	no	coding-synonymous	AIRE	NM_000383.2		238,1061,4306	CC,CT,TT		1.6788,37.5133,13.711		33/546	45705988	1537,9673	1882	3723	5605	SO:0001819	synonymous_variant	326	exon1	Familial Cancer Database	APECED	GCTGGCTGACCAC	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.99T>C	21.37:g.45705988T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	74	30	0.405405	NM_000383	B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	CCDS13706.1																																																																																			T|0.716;C|0.284	0.284	strong		0.716	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			C	45705988	T	C	45705988	2	2	22	1	0	0	0	0	0	0	0	1	437	1567	55	3		3	AIRE	21	45705988	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	167303	45705988	2423907	10739	15847										
AIRE	326	hgsc.bcm.edu	37	chr21	45712983	45712983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcacctgccggctccgccTtctgcagccccgctgccagg	11	19	1	0	rs61737072	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45712983T>C	ENST00000291582.5	+	10	1330	c.1203T>C	c.(1201-1203)ccT>ccC	p.P401P	AIRE_ENST00000329347.4_Intron|AIRE_ENST00000355347.4_Silent_p.P194P	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	401					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CGGCTCCGCCTTCTGCAGCCC	0.677									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				T|||	232	0.0463259	0.1649	0.0202	5008	,	,		10975	0.0		0.0	False		,,,				2504	0.0				p.P401P		Atlas-SNP	.											.	AIRE	61	.	0			c.T1203C						PASS	.	T	,	665,3717		60,545,1586	22	26	24		1203,612	-2.4	0	21	dbSNP_129	24	2,8586		0,2,4292	no	coding-synonymous,coding-synonymous	AIRE	NM_000383.2,NM_000658.2	,	60,547,5878	CC,CT,TT		0.0233,15.1757,5.1426	,	401/546,204/349	45712983	667,12303	2191	4294	6485	SO:0001819	synonymous_variant	326	exon10	Familial Cancer Database	APECED	TCCGCCTTCTGCA	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1203T>C	21.37:g.45712983T>C		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	20	0.434783	NM_000383	B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	CCDS13706.1																																																																																			T|0.951;C|0.049	0.049	strong		0.677	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			C	45712983	T	C	45712983	2	2	22	1	0	0	0	0	0	0	0	1	437	1596	56	3		3	AIRE	21	45712983	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	6995	45712983	2416912	10740	15848										
C21orf2	755	hgsc.bcm.edu	37	chr21	45750713	45750713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgccactcaccctgcccCtgtggctgctcgaggcatcc	10	20	1	0	rs62000360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45750713C>T	ENST00000339818.4	-	6	842	c.635G>A	c.(634-636)aGg>aAg	p.R212K	C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R211K|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.R211K|AP001062.8_ENST00000422357.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	212					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CACCCTGCCCCTGTGGCTGCT	0.697													C|||	126	0.0251597	0.0855	0.0159	5008	,	,		13869	0.0		0.002	False		,,,				2504	0.0				p.R212K		Atlas-SNP	.											.	C21orf2	10	.	0			c.G635A						PASS	.	C	LYS/ARG	228,4128		4,220,1954	11	13	12		635	-5.5	0	21	dbSNP_129	12	0,8504		0,0,4252	yes	missense	C21orf2	NM_004928.2	26	4,220,6206	TT,TC,CC		0.0,5.2342,1.7729	benign	212/257	45750713	228,12632	2178	4252	6430	SO:0001583	missense	755	exon6			CTGCCCCTGTGGC	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.635G>A	21.37:g.45750713C>T	ENSP00000344566:p.Arg212Lys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	155	80	0.516129	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	CCDS13709.1	39	0.017857142857142856	34	0.06910569105691057	5	0.013812154696132596	0	0.0	0	0.0	C	1.956	-0.440014	0.04636	0.052342	0.0	ENSG00000160226	ENST00000339818;ENST00000397956;ENST00000325223	T;T;T	0.30448	1.65;1.53;1.61	4.25	-5.48	0.02592	.	0.521247	0.22438	N	0.060048	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	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	0.17410	-1.0370	10	0.02654	T	1	-26.1772	5.5943	0.17319	0.0:0.3756:0.2867:0.3377	.	211;211;212;171	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	K	212;211;211	ENSP00000344566:R212K;ENSP00000381047:R211K;ENSP00000317302:R211K	ENSP00000317302:R211K	R	-	2	0	C21orf2	44575141	0.000000	0.05858	0.029000	0.17559	0.002000	0.02628	-1.437000	0.02419	-1.158000	0.02811	-0.768000	0.03414	AGG	C|0.976;T|0.024	0.024	strong		0.697	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		T	45750713	C	T	45750713	3	4	22	1	0	0	0	0	1	0	0	0	2123	681	24	2	143	2	C21orf2	21	45750713	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	37730	45750713	2379182	10741	15849										
C21orf2	755	hgsc.bcm.edu	37	chr21	45750725	45750725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccctgcccctgtggctgctcGaggcatccctggctgagagg	14	15	0	1	rs148023924	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45750725G>A	ENST00000339818.4	-	6	830	c.623C>T	c.(622-624)tCg>tTg	p.S208L	C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.S207L|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.S207L|AP001062.8_ENST00000422357.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	208					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GTGGCTGCTCGAGGCATCCCT	0.682													G|||	12	0.00239617	0.0068	0.0	5008	,	,		13283	0.0		0.001	False		,,,				2504	0.002				p.S208L		Atlas-SNP	.											.	C21orf2	10	.	0			c.C623T						PASS	.	G	LEU/SER	23,4355		0,23,2166	14	15	15		623	-5.4	0	21	dbSNP_134	15	0,8590		0,0,4295	yes	missense	C21orf2	NM_004928.2	145	0,23,6461	AA,AG,GG		0.0,0.5254,0.1774	benign	208/257	45750725	23,12945	2189	4295	6484	SO:0001583	missense	755	exon6			CTGCTCGAGGCAT	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.623C>T	21.37:g.45750725G>A	ENSP00000344566:p.Ser208Leu	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	160	79	0.49375	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	CCDS13709.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.377	1.072041	0.20147	0.005254	0.0	ENSG00000160226	ENST00000339818;ENST00000397956;ENST00000325223	T;T;T	0.35973	1.61;1.28;1.61	4.25	-5.4	0.02656	.	2.084300	0.02418	N	0.082253	T	0.08223	0.0205	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.09292	-1.0681	10	0.28530	T	0.3	-0.0966	1.5726	0.02618	0.5044:0.1437:0.2077:0.1442	.	207;207;208;167	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	L	208;207;207	ENSP00000344566:S208L;ENSP00000381047:S207L;ENSP00000317302:S207L	ENSP00000317302:S207L	S	-	2	0	C21orf2	44575153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.798000	0.04565	-0.617000	0.05664	-0.137000	0.14449	TCG	G|0.997;A|0.003	0.003	strong		0.682	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		A	45750725	G	A	45750725	3	1	22	1	0	0	0	0	1	0	0	0	2123	1059	37	1	155	1	C21orf2	21	45750725	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12	45750725	2379170	10742	15850										
C21orf2	755	hgsc.bcm.edu	37	chr21	45755646	45755646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaggagcgaggtacctgagCgtgatcacctccaggctggg	16	11	1	2	rs146104157	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45755646C>T	ENST00000339818.4	-	3	345	c.138G>A	c.(136-138)acG>acA	p.T46T	C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Silent_p.T46T|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Silent_p.T46T	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	46					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GGTACCTGAGCGTGATCACCT	0.607													C|||	13	0.00259585	0.0091	0.0	5008	,	,		20080	0.0		0.0	False		,,,				2504	0.001				p.T46T		Atlas-SNP	.											.	C21orf2	10	.	0			c.G138A						PASS	.	C		35,4369		0,35,2167	65	42	50		138	-3.1	1	21	dbSNP_134	50	1,8587		0,1,4293	no	coding-synonymous	C21orf2	NM_004928.2		0,36,6460	TT,TC,CC		0.0116,0.7947,0.2771		46/257	45755646	36,12956	2202	4294	6496	SO:0001819	synonymous_variant	755	exon3			CCTGAGCGTGATC	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.138G>A	21.37:g.45755646C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	178	79	0.44382	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Silent	SNP	ENST00000339818.4	37	CCDS13709.1																																																																																			C|0.997;T|0.003	0.003	strong		0.607	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		T	45755646	C	T	45755646	2	4	22	1	0	0	0	0	0	0	0	1	2123	755	27	1		1	C21orf2	21	45755646	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4921	45755646	2374249	10743	15851										
C21orf2	755	hgsc.bcm.edu	37	chr21	45759045	45759045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagctccgaggccttggcCcgggtcagaaccatcttccg	12	15	2	1	rs11870	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45759045C>T	ENST00000339818.4	-	1	240	c.33G>A	c.(31-33)cgG>cgA	p.R11R	C21orf2_ENST00000325223.7_Silent_p.R11R|AP001062.9_ENST00000426029.1_RNA|C21orf2_ENST00000397956.3_Silent_p.R11R|C21orf2_ENST00000496321.1_5'Flank	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	11					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		AGGCCTTGGCCCGGGTCAGAA	0.776													C|||	1633	0.326078	0.4493	0.3069	5008	,	,		8225	0.1528		0.2386	False		,,,				2504	0.4417				p.R11R		Atlas-SNP	.											.	C21orf2	10	.	0			c.G33A						PASS	.	C		1362,2514		240,882,816	5	4	5		33	0.5	1	21	dbSNP_52	5	1413,6169		169,1075,2547	no	coding-synonymous	C21orf2	NM_004928.2		409,1957,3363	TT,TC,CC		18.6362,35.1393,24.2189		11/257	45759045	2775,8683	1938	3791	5729	SO:0001819	synonymous_variant	755	exon1			CTTGGCCCGGGTC	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.33G>A	21.37:g.45759045C>T		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_004928	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Silent	SNP	ENST00000339818.4	37	CCDS13709.1																																																																																			C|0.721;T|0.279	0.279	strong		0.776	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		T	45759045	C	T	45759045	2	4	22	1	0	0	0	0	0	0	0	1	2123	610	22	2		2	C21orf2	21	45759045	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3399	45759045	2370850	10744	15852										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45786709	45786709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccagcactgggggctggacGtccccaatctcttgatctcg	11	15	2	1	rs45544142	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45786709G>A	ENST00000397928.1	+	4	941	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	TRPM2_ENST00000300482.5_Missense_Mutation_p.V166I|TRPM2_ENST00000397932.2_Missense_Mutation_p.V166I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V166I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	166			V -> I (in dbSNP:rs45544142). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGCTGGACGTCCCCAATCT	0.612													G|||	148	0.0295527	0.1044	0.0101	5008	,	,		16186	0.003		0.0	False		,,,				2504	0.0				p.V166I		Atlas-SNP	.											.	TRPM2	196	.	0			c.G496A						PASS	.	G	ILE/VAL	454,3952	216.4+/-235.1	24,406,1773	61	57	58		496	2.3	0.1	21	dbSNP_127	58	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TRPM2	NM_003307.3	29	24,412,6067	AA,AG,GG		0.0698,10.3041,3.5368	benign	166/1504	45786709	460,12546	2203	4300	6503	SO:0001583	missense	7226	exon4			CTGGACGTCCCCA	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.496G>A	21.37:g.45786709G>A	ENSP00000381023:p.Val166Ile	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	65	33	0.507692	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	60	0.027472527472527472	55	0.11178861788617886	3	0.008287292817679558	2	0.0034965034965034965	0	0.0	G	5.471	0.271913	0.10349	0.103041	6.98E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.12	2.28	0.28536	.	0.459727	0.21621	U	0.071660	T	0.00754	0.0025	L	0.39397	1.21	0.09310	N	1	B;B	0.23377	0.084;0.039	B;B	0.17433	0.018;0.007	T	0.02821	-1.1106	10	0.22109	T	0.4	-28.3824	5.9165	0.19057	0.2468:0.1389:0.6143:0.0	rs45544142;rs61747092	166;166	E9PGK7;O94759	.;TRPM2_HUMAN	I	166	ENSP00000300482:V166I;ENSP00000381023:V166I;ENSP00000300481:V166I;ENSP00000381026:V166I	ENSP00000300481:V166I	V	+	1	0	TRPM2	44611137	0.000000	0.05858	0.110000	0.21437	0.394000	0.30568	0.164000	0.16542	0.314000	0.23086	0.297000	0.19635	GTC	G|0.962;A|0.038	0.038	strong		0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45786709	G	A	45786709	3	1	22	1	0	0	0	0	1	0	0	0	16583	1145	40	1	510	1	TRPM2	21	45786709	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27664	45786709	2343186	10745	15853										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45799018	45799018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgatccagcagaaactgagcGtgttcttccaggagatgttt	11	8	1	4	rs45485992	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45799018G>A	ENST00000397928.1	+	8	1598	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	TRPM2_ENST00000300482.5_Missense_Mutation_p.V385M|TRPM2_ENST00000397932.2_Missense_Mutation_p.V385M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.V385M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	385			V -> M (in dbSNP:rs45485992). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAAACTGAGCGTGTTCTTCCA	0.587													G|||	14	0.00279553	0.0106	0.0	5008	,	,		22548	0.0		0.0	False		,,,				2504	0.0				p.V385M		Atlas-SNP	.											.	TRPM2	196	.	0			c.G1153A						PASS	.	G	MET/VAL	53,4353	54.2+/-90.2	2,49,2152	127	92	104		1153	-7.7	0	21	dbSNP_127	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRPM2	NM_003307.3	21	2,50,6451	AA,AG,GG		0.0116,1.2029,0.4152	benign	385/1504	45799018	54,12952	2203	4300	6503	SO:0001583	missense	7226	exon8			CTGAGCGTGTTCT	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1153G>A	21.37:g.45799018G>A	ENSP00000381023:p.Val385Met	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	78	38	0.487179	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	3.161	-0.172171	0.06421	0.012029	1.16E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	3.84	-7.69	0.01263	.	1.065880	0.07211	N	0.859284	T	0.10380	0.0254	L	0.36672	1.1	0.09310	N	1	B;B	0.25743	0.133;0.133	B;B	0.13407	0.009;0.003	T	0.09037	-1.0693	10	0.45353	T	0.12	-4.1705	3.8491	0.08948	0.4825:0.2381:0.193:0.0864	rs45485992;rs61737083	385;385	E9PGK7;O94759	.;TRPM2_HUMAN	M	385	ENSP00000300482:V385M;ENSP00000381023:V385M;ENSP00000300481:V385M;ENSP00000381026:V385M	ENSP00000300481:V385M	V	+	1	0	TRPM2	44623446	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-0.968000	0.03817	-2.737000	0.00381	-1.087000	0.02190	GTG	G|0.994;A|0.006	0.006	strong		0.587	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45799018	G	A	45799018	3	1	22	1	0	0	0	0	1	0	0	0	16583	1145	40	1	1183	1	TRPM2	21	45799018	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12309	45799018	2330877	10746	15854										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45817713	45817713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaggacacggacagctcGgaggagatgctggcgctggc	19	9	0	1	rs45622331	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45817713G>A	ENST00000397928.1	+	13	2461	c.2016G>A	c.(2014-2016)tcG>tcA	p.S672S	TRPM2_ENST00000300482.5_Silent_p.S672S|TRPM2_ENST00000300481.9_Silent_p.S652S|TRPM2_ENST00000397932.2_Silent_p.S672S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	672					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGGACAGCTCGGAGGAGATGC	0.652													G|||	295	0.0589058	0.1672	0.062	5008	,	,		19503	0.0298		0.001	False		,,,				2504	0.0				p.S672S		Atlas-SNP	.											.	TRPM2	196	.	0			c.G2016A						PASS	.	G		556,3844	245.0+/-254.1	31,494,1675	75	60	65		2016	-9.3	0.5	21	dbSNP_127	65	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	TRPM2	NM_003307.3		31,501,5962	AA,AG,GG		0.0815,12.6364,4.3348		672/1504	45817713	563,12425	2200	4294	6494	SO:0001819	synonymous_variant	7226	exon13			CAGCTCGGAGGAG	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2016G>A	21.37:g.45817713G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	156	81	0.519231	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																			G|0.947;A|0.053	0.053	strong		0.652	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45817713	G	A	45817713	2	1	22	1	0	0	0	0	0	0	0	1	16583	1103	39	1		1	TRPM2	21	45817713	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18695	45817713	2312182	10747	15855										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45821582	45821582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggagaagaggctgcaggaTgtgggcacccccgcggcccg	18	12	0	2	rs9974927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45821582T>G	ENST00000397928.1	+	16	2785	c.2340T>G	c.(2338-2340)gaT>gaG	p.D780E	TRPM2_ENST00000300482.5_Missense_Mutation_p.D780E|TRPM2_ENST00000397932.2_Missense_Mutation_p.D780E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D760E	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	780			D -> E (in dbSNP:rs9974927). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTGCAGGATGTGGGCACCC	0.657													G|||	260	0.0519169	0.1407	0.062	5008	,	,		16222	0.0298		0.001	False		,,,				2504	0.0				p.D780E		Atlas-SNP	.											.	TRPM2	196	.	0			c.T2340G						PASS	.	G	GLU/ASP	485,3921	777.7+/-414.2	25,435,1743	88	71	77		2340	-8.6	0	21	dbSNP_119	77	7,8593	815.9+/-406.9	0,7,4293	yes	missense	TRPM2	NM_003307.3	45	25,442,6036	GG,GT,TT		0.0814,11.0077,3.7829	benign	780/1504	45821582	492,12514	2203	4300	6503	SO:0001583	missense	7226	exon16			GCAGGATGTGGGC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2340T>G	21.37:g.45821582T>G	ENSP00000381023:p.Asp780Glu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	90	46	0.511111	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	105	0.04807692307692308	72	0.14634146341463414	14	0.03867403314917127	19	0.033216783216783216	0	0.0	G	0.854	-0.737676	0.03111	0.110077	8.14E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.51574	0.81;0.81;0.83;0.7	4.32	-8.64	0.00874	.	.	.	.	.	T	0.00073	0.0002	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06058	-1.0848	9	0.05436	T	0.98	-0.4174	1.6889	0.02848	0.3751:0.1488:0.2961:0.18	rs9974927;rs57610450;rs9974927	780;566;780	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	E	780;780;760;780	ENSP00000300482:D780E;ENSP00000381023:D780E;ENSP00000300481:D760E;ENSP00000381026:D780E	ENSP00000300481:D760E	D	+	3	2	TRPM2	44646010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.862000	0.00176	-2.458000	0.00538	-1.418000	0.01112	GAT	T|0.948;G|0.052	0.052	strong		0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		G	45821582	T	G	45821582	3	3	22	1	0	0	0	0	1	0	0	0	16583	1461	51	5	2402	5	TRPM2	21	45821582	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3869	45821582	2308313	10748	15856										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45825818	45825818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacgctgtaccccgggcgCgtcatcctctctctggactt	11	16	3	0	rs17004645	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45825818C>T	ENST00000397928.1	+	18	3133	c.2688C>T	c.(2686-2688)cgC>cgT	p.R896R	TRPM2_ENST00000300482.5_Silent_p.R896R|TRPM2_ENST00000397932.2_Silent_p.R896R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R876R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	896					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCCCGGGCGCGTCATCCTCT	0.612													t|||	18	0.00359425	0.0136	0.0	5008	,	,		17476	0.0		0.0	False		,,,				2504	0.0				p.R896R		Atlas-SNP	.											TRPM2,NS,carcinoma,+1,1	TRPM2	196	1	0			c.C2688T						PASS	.	T		64,4342	814.1+/-416.2	3,58,2142	87	90	89		2688	1.1	0.8	21	dbSNP_123	89	0,8598		0,0,4299	no	coding-synonymous	TRPM2	NM_003307.3		3,58,6441	TT,TC,CC		0.0,1.4526,0.4922		896/1504	45825818	64,12940	2203	4299	6502	SO:0001819	synonymous_variant	7226	exon18			CGGGCGCGTCATC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2688C>T	21.37:g.45825818C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																			C|0.993;T|0.007	0.007	strong		0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45825818	C	T	45825818	2	4	22	1	0	0	0	0	0	0	0	1	16583	755	27	1		1	TRPM2	21	45825818	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4236	45825818	2304077	10749	15857										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45856963	45856963	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtggaggcggaacgaggaTggagccatctgcaggaagag	19	6	1	1	rs11910471	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45856963T>C	ENST00000397928.1	+	29	4525	c.4080T>C	c.(4078-4080)gaT>gaC	p.D1360D	TRPM2_ENST00000300481.9_Silent_p.D1306D|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300482.5_Silent_p.D1360D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.D1410D|snoZ6_ENST00000581669.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1360	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGAACGAGGATGGAGCCATCT	0.687													C|||	432	0.086262	0.3109	0.0288	5008	,	,		14340	0.0		0.001	False		,,,				2504	0.0				p.D1360D		Atlas-SNP	.											.	TRPM2	196	.	0			c.T4080C						PASS	.	C		892,2978		106,680,1149	92	66	75		4080	-6.6	0.2	21	dbSNP_120	75	8,7486		0,8,3739	no	coding-synonymous	TRPM2	NM_003307.3		106,688,4888	CC,CT,TT		0.1068,23.0491,7.9197		1360/1504	45856963	900,10464	1935	3747	5682	SO:0001819	synonymous_variant	7226	exon29			CGAGGATGGAGCC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4080T>C	21.37:g.45856963T>C		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	54	31	0.574074	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																			T|0.901;C|0.099	0.099	strong		0.687	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		C	45856963	T	C	45856963	2	2	22	1	0	0	0	0	0	0	0	1	16583	1461	51	2		2	TRPM2	21	45856963	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31145	45856963	2272932	10750	15858										
C21orf29	54084	hgsc.bcm.edu	37	chr21	45929192	45929192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggacttgcatctccacatcGtagctgtgactgtttgccac	9	12	1	1	rs115847549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45929192G>A	ENST00000323084.4	-	10	1709	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y	TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR_ENST00000397916.1_Silent_p.Y480Y	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	548					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TCTCCACATCGTAGCTGTGAC	0.537													G|||	41	0.0081869	0.0287	0.0043	5008	,	,		13812	0.0		0.0	False		,,,				2504	0.0				p.Y548Y		Atlas-SNP	.											.	TSPEAR	110	.	0			c.C1644T						PASS	.	G		138,4268	100.7+/-139.4	6,126,2071	202	127	152		1644	-1	0.9	21	dbSNP_132	152	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous	TSPEAR	NM_144991.2		6,145,6352	AA,AG,GG		0.2209,3.1321,1.2071		548/670	45929192	157,12849	2203	4300	6503	SO:0001819	synonymous_variant	54084	exon10			CACATCGTAGCTG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1644C>T	21.37:g.45929192G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	184	97	0.527174	NM_144991		Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																			G|0.988;A|0.012	0.012	strong		0.537	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45929192	G	A	45929192	2	1	22	1	0	0	0	0	0	0	0	1	2124	1140	40	1		1	C21orf29	21	45929192	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	72229	45929192	2200703	10751	15859										
C21orf29	54084	hgsc.bcm.edu	37	chr21	45953576	45953576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgggtacctacatgtccacCgggaggccgcagtccgtggt	15	12	0	0	rs148713881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45953576C>T	ENST00000323084.4	-	3	599	c.534G>A	c.(532-534)ccG>ccA	p.P178P	TSPEAR_ENST00000397916.1_Silent_p.P110P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	178	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACATGTCCACCGGGAGGCCGC	0.677													C|||	31	0.0061901	0.0227	0.0014	5008	,	,		13631	0.0		0.0	False		,,,				2504	0.0				p.P178P		Atlas-SNP	.											TSPEAR,caecum,carcinoma,0,1	TSPEAR	110	1	0			c.G534A						PASS	.	C		104,4254		5,94,2080	19	19	19		534	-0.2	0.7	21	dbSNP_134	19	0,8526		0,0,4263	no	coding-synonymous	TSPEAR	NM_144991.2		5,94,6343	TT,TC,CC		0.0,2.3864,0.8072		178/670	45953576	104,12780	2179	4263	6442	SO:0001819	synonymous_variant	54084	exon3			GTCCACCGGGAGG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.534G>A	21.37:g.45953576C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	101	44	0.435644	NM_144991		Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																			C|0.990;T|0.010	0.010	strong		0.677	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45953576	C	T	45953576	2	4	22	1	0	0	0	0	0	0	0	1	2124	639	23	1		1	C21orf29	21	45953576	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	24384	45953576	2176319	10752	15860										
KRTAP10-1	386677	hgsc.bcm.edu	37	chr21	45959279	45959279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaggaggaggcaggggcaCagcaggaggagacaggcata	20	7	0	1	rs28644341	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45959279C>T	ENST00000400375.1	-	1	799	c.755G>A	c.(754-756)tGt>tAt	p.C252Y	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	252	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGCAGGGGCACAGCAGGAGGA	0.726													C|||	48	0.00958466	0.0356	0.0014	5008	,	,		14804	0.0		0.0	False		,,,				2504	0.0				p.C252Y		Atlas-SNP	.											.	KRTAP10-1	34	.	0			c.G755A						PASS	.	C	TYR/CYS,	119,4287	82.4+/-120.9	6,107,2090	43	50	48		755,	2	0	21	dbSNP_125	48	0,8600		0,0,4300	no	missense,intron	TSPEAR,KRTAP10-1	NM_198691.2,NM_144991.2	194,	6,107,6390	TT,TC,CC		0.0,2.7009,0.915	probably-damaging,	252/283,	45959279	119,12887	2203	4300	6503	SO:0001583	missense	386677	exon1			GGGGCACAGCAGG	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.755G>A	21.37:g.45959279C>T	ENSP00000383226:p.Cys252Tyr	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_198691	Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	CCDS42954.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	c	0.012	-1.682141	0.00745	0.027009	0.0	ENSG00000215455	ENST00000400375	T	0.02345	4.33	2.93	2.0	0.26442	.	.	.	.	.	T	0.05090	0.0136	M	0.90922	3.16	0.09310	N	1	D	0.59357	0.985	D	0.63488	0.915	T	0.02313	-1.1178	9	0.46703	T	0.11	.	8.9015	0.35497	0.0:0.5471:0.4529:0.0	rs28644341	252	P60331	KR101_HUMAN	Y	252	ENSP00000383226:C252Y	ENSP00000383226:C252Y	C	-	2	0	KRTAP10-1	44783707	0.050000	0.20438	0.003000	0.11579	0.018000	0.09664	0.887000	0.28254	0.532000	0.28657	-0.499000	0.04595	TGT	C|0.991;T|0.009	0.009	strong		0.726	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			T	45959279	C	T	45959279	3	4	22	1	0	0	0	0	1	0	0	0	8505	478	17	2	97	2	KRTAP10-1	21	45959279	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5703	45959279	2170616	10753	15861										
KRTAP10-1	386677	hgsc.bcm.edu	37	chr21	45959341	45959343	+	In_Frame_Del	DEL	GGA	GGA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcggcagaggagggacacGgaggaggagggtctgcagca					rs150327748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45959341_45959343delGGA	ENST00000400375.1	-	1	735_737	c.691_693delTCC	c.(691-693)tccdel	p.S231del	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	231	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAGGGACACGGAGGAGGAGGGT	0.68														148	0.0295527	0.1029	0.0159	5008	,	,		16669	0.0		0.001	False		,,,				2504	0.0				p.231_232del		Pindel,Atlas-Indel	.											.	KRTAP10-1	34	.	0			c.692_694del						PASS	.		,	367,3897		17,333,1782					,	0.4	0.3		dbSNP_134	76	0,8254		0,0,4127	no	coding,intron	TSPEAR,KRTAP10-1	NM_198691.2,NM_144991.2	,	17,333,5909	A1A1,A1R,RR		0.0,8.6069,2.9318	,	,		367,12151				SO:0001651	inframe_deletion	386677	exon1			.	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.691_693delTCC	21.37:g.45959347_45959349delGGA	ENSP00000383226:p.Ser231del	Somatic	106	.	.		WXS	Illumina HiSeq	Phase_I	104	23	0.221	NM_198691	Q0VAR0|Q0VAR1	In_Frame_Del	DEL	ENST00000400375.1	37	CCDS42954.1																																																																																			GGA|0.975;-|0.025	0.025	strong		0.68	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			-	45959343	GGA	-	45959341	7	5	22	1	0	1	0	1	0	0	0	0	8505	1103	39	0	159	0	KRTAP10-1	21	45959341	In_Frame_Del	DEL	GGA	TCGA-G8-6324-01A-11D-2210-10	62	45959341	2170554	10754	15862										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970718	45970718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctagactgctggcagcaCggagaggaagccccagagca	14	12	0	3	rs233238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45970718C>T	ENST00000391621.1	-	1	670	c.624G>A	c.(622-624)ccG>ccA	p.P208P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	208	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCTGGCAGCACGGAGAGGAAG	0.642													C|||	1331	0.265775	0.357	0.1715	5008	,	,		20976	0.3641		0.2068	False		,,,				2504	0.1687				p.P208P		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.G624A						PASS	.	C	,	1465,2941	472.6+/-356.4	247,971,985	119	126	124		,624	-5	0	21	dbSNP_79	124	1696,6904	311.7+/-310.5	158,1380,2762	no	intron,coding-synonymous	TSPEAR,KRTAP10-2	NM_144991.2,NM_198693.2	,	405,2351,3747	TT,TC,CC		19.7209,33.2501,24.3042	,	,208/256	45970718	3161,9845	2203	4300	6503	SO:0001819	synonymous_variant	386679	exon1			GCAGCACGGAGAG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.624G>A	21.37:g.45970718C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	229	108	0.471616	NM_198693	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			C|0.742;T|0.258	0.258	strong		0.642	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45970718	C	T	45970718	2	4	22	1	0	0	0	0	0	0	0	1	8509	523	19	1		1	KRTAP10-2	21	45970718	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11377	45970718	2159177	10755	15863										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970993	45970993	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctggcagcatgaagaagCcccacagcagacgggcacac	12	14	0	3	rs233239	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45970993C>G	ENST00000391621.1	-	1	395	c.349G>C	c.(349-351)Gct>Cct	p.A117P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	117	22 X 5 AA repeats of C-C-X(3).		A -> P (in dbSNP:rs233239). {ECO:0000269|PubMed:15028290}.			keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CATGAAGAAGCCCCACAGCAG	0.647													c|||	1141	0.227835	0.2209	0.1585	5008	,	,		21182	0.3651		0.2048	False		,,,				2504	0.1687				p.A117P		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.G349C						PASS	.	G	PRO/ALA,	1007,3399	361.1+/-315.5	113,781,1309	113	118	116		349,	0.1	0	21	dbSNP_79	116	1685,6915	305.2+/-307.3	158,1369,2773	no	missense,intron	TSPEAR,KRTAP10-2	NM_198693.2,NM_144991.2	27,	271,2150,4082	GG,GC,CC		19.593,22.8552,20.6981	possibly-damaging,	117/256,	45970993	2692,10314	2203	4300	6503	SO:0001583	missense	386679	exon1			AAGAAGCCCCACA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.349G>C	21.37:g.45970993C>G	ENSP00000375479:p.Ala117Pro	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	320	144	0.45	NM_198693	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	560	0.2564102564102564	111	0.22560975609756098	63	0.17403314917127072	215	0.3758741258741259	171	0.22559366754617413	c	2.552	-0.303826	0.05495	0.228552	0.19593	ENSG00000205445	ENST00000391621	T	0.00686	5.85	3.22	0.117	0.14652	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P	0.47106	0.89	B	0.39185	0.293	T	0.03017	-1.1082	8	0.02654	T	1	.	6.221	0.20681	0.0:0.3402:0.5229:0.1369	rs233239;rs478904;rs905517	117	P60368	KR102_HUMAN	P	117	ENSP00000375479:A117P	ENSP00000375479:A117P	A	-	1	0	KRTAP10-2	44795421	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	0.105000	0.15333	0.092000	0.17331	-0.394000	0.06481	GCT	C|0.702;G|0.298	0.298	strong		0.647	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45970993	C	G	45970993	3	3	22	1	0	0	0	0	1	0	0	0	8509	739	26	4	422	4	KRTAP10-2	21	45970993	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	275	45970993	2158902	10756	15864										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45971023	45971023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgggcacacagcacacagGcttgcagcagacgggcacgc	14	14	0	1	rs478967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45971023G>T	ENST00000391621.1	-	1	365	c.319C>A	c.(319-321)Cct>Act	p.P107T	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	107	22 X 5 AA repeats of C-C-X(3).		P -> T (in dbSNP:rs478967). {ECO:0000269|PubMed:15028290}.			keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCACACAGGCTTGCAGCAG	0.662													g|||	1139	0.227436	0.2171	0.1585	5008	,	,		20659	0.369		0.2048	False		,,,				2504	0.1677				p.P107T		Atlas-SNP	.											.	KRTAP10-2	21	.	0			c.C319A						PASS	.	T	,THR/PRO	996,3408	350.8+/-311.0	91,814,1297	104	107	106		,319	0.7	0	21	dbSNP_83	106	1678,6922	302.0+/-305.7	148,1382,2770	no	intron,missense	TSPEAR,KRTAP10-2	NM_144991.2,NM_198693.2	,38	239,2196,4067	TT,TG,GG		19.5116,22.6158,20.5629	,benign	,107/256	45971023	2674,10330	2202	4300	6502	SO:0001583	missense	386679	exon1			ACACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.319C>A	21.37:g.45971023G>T	ENSP00000375479:p.Pro107Thr	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	317	125	0.394322	NM_198693	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	522	0.23901098901098902	101	0.20528455284552846	61	0.1685082872928177	200	0.34965034965034963	160	0.21108179419525067	g	2.743	-0.261873	0.05791	0.226158	0.195116	ENSG00000205445	ENST00000391621	T	0.04360	3.64	3.77	0.683	0.17998	.	.	.	.	.	T	0.00012	0.0000	M	0.78285	2.405	0.80722	P	0.0	B	0.25351	0.124	B	0.27887	0.084	T	0.41413	-0.9510	8	0.39692	T	0.17	.	1.2578	0.01995	0.2057:0.1724:0.4448:0.177	rs56265636	107	P60368	KR102_HUMAN	T	107	ENSP00000375479:P107T	ENSP00000375479:P107T	P	-	1	0	KRTAP10-2	44795451	0.669000	0.27502	0.004000	0.12327	0.026000	0.11368	1.776000	0.38594	0.131000	0.18576	-0.369000	0.07265	CCT	G|0.811;T|0.189	0.189	strong		0.662	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971023	G	T	45971023	3	4	22	1	0	0	0	0	1	0	0	0	8509	1203	42	4	452	4	KRTAP10-2	21	45971023	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	30	45971023	2158872	10757	15865										
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45971108	45971108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctagactgctggcagcaCgagggcgtgcaggagctggt	17	10	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45971108C>T	ENST00000391621.1	-	1	280	c.234G>A	c.(232-234)tcG>tcA	p.S78S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	78	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCTGGCAGCACGAGGGCGTGC	0.687																																					p.S78S		Atlas-SNP	.											KRTAP10-2,caecum,carcinoma,-1,1	KRTAP10-2	21	1	0			c.G234A						scavenged	.						52	56	55					21																	45971108		2202	4293	6495	SO:0001819	synonymous_variant	386679	exon1			GCAGCACGAGGGC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.234G>A	21.37:g.45971108C>T		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	173	18	0.104046	NM_198693	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			.	.	none		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971108	C	T	45971108	2	4	22	1	0	0	0	0	0	0	0	1	8509	523	19	1		1	KRTAP10-2	21	45971108	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	85	45971108	2158787	10758	15866										
KRTAP10-3	386682	hgsc.bcm.edu	37	chr21	45978128	45978128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcggcagaggagggacacGgaggaggagggtctgcagca	22	7	1	1	rs186210430	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45978128G>A	ENST00000391620.1	-	1	515	c.471C>T	c.(469-471)tcC>tcT	p.S157S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	157	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGAGGGACACGGAGGAGGAGG	0.692													G|||	70	0.0139776	0.0484	0.0086	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.0				p.S157S		Atlas-SNP	.											.	KRTAP10-3	17	.	0			c.C471T						PASS	.	G	,	263,4143	147.3+/-181.8	4,255,1944	90	98	95		,471	-5.3	0	21		95	0,8600		0,0,4300	no	intron,coding-synonymous	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,	4,255,6244	AA,AG,GG		0.0,5.9691,2.0221	,	,157/222	45978128	263,12743	2203	4300	6503	SO:0001819	synonymous_variant	386682	exon1			GGACACGGAGGAG	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.471C>T	21.37:g.45978128G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	189	99	0.52381	NM_198696	A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	CCDS42956.1																																																																																			G|0.992;A|0.008	0.008	strong		0.692	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978128	G	A	45978128	2	1	22	1	0	0	0	0	0	0	0	1	8510	1103	39	1		1	KRTAP10-3	21	45978128	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	7020	45978128	2151767	10759	15867										
KRTAP10-4	386672	hgsc.bcm.edu	37	chr21	45993990	45993990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtctgctgcaagactgtcTgctgcaagcctgtgtgctgt	12	12	2	1	rs79601471		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45993990T>C	ENST00000400374.3	+	1	385	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	119	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAAGACTGTCTGCTGCAAGCC	0.647																																					p.C119R		Atlas-SNP	.											.	KRTAP10-4	44	.	0			c.T355C						PASS	.	T	ARG/CYS,	498,3906		0,498,1704	117	107	111		355,	3.2	0.5	21	dbSNP_131	111	2,8590		0,2,4294	no	missense,intron	TSPEAR,KRTAP10-4	NM_198687.1,NM_144991.2	180,	0,500,5998	CC,CT,TT		0.0233,11.3079,3.8473	probably-damaging,	119/402,	45993990	500,12496	2202	4296	6498	SO:0001583	missense	386672	exon1			ACTGTCTGCTGCA	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.355T>C	21.37:g.45993990T>C	ENSP00000383225:p.Cys119Arg	Somatic	575	0	0		WXS	Illumina HiSeq	Phase_I	530	140	0.264151	NM_198687	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	97	0.044413919413919416	86	0.17479674796747968	11	0.03038674033149171	0	0.0	0	0.0	N	6.327	0.428441	0.11987	0.113079	2.33E-4	ENSG00000215454	ENST00000400374	T	0.01043	5.41	4.37	3.18	0.36537	.	.	.	.	.	T	0.00012	0.0000	M	0.90870	3.155	0.23780	P	0.99686138	D	0.54772	0.968	P	0.50970	0.655	T	0.16928	-1.0386	8	0.87932	D	0	.	7.1933	0.25839	0.3572:0.0:0.0:0.6428	.	119	P60372	KR104_HUMAN	R	119	ENSP00000383225:C119R	ENSP00000383225:C119R	C	+	1	0	KRTAP10-4	44818418	0.622000	0.27085	0.456000	0.27044	0.149000	0.21700	0.699000	0.25586	0.514000	0.28300	0.386000	0.25728	TGC	T|0.955;C|0.045	0.045	strong		0.647	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		C	45993990	T	C	45993990	3	2	22	1	0	0	0	0	1	0	0	0	8511	1580	55	3	357	3	KRTAP10-4	21	45993990	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15862	45993990	2135905	10760	15868										
KRTAP10-4	386672	hgsc.bcm.edu	37	chr21	45994488	45994488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtgctgcaagcctgtcGgctctgtgcccatctgctct	11	14	3	0	rs396912	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45994488G>T	ENST00000400374.3	+	1	883	c.853G>T	c.(853-855)Ggc>Tgc	p.G285C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	285	36 X 5 AA repeats of C-C-X(3).		G -> C (in dbSNP:rs396912).			keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAAGCCTGTCGGCTCTGTGCC	0.642													.|||	931	0.185903	0.3812	0.0937	5008	,	,		22814	0.2054		0.0368	False		,,,				2504	0.1207				p.G285C		Atlas-SNP	.											KRTAP10-4,colon,carcinoma,-1,1	KRTAP10-4	44	1	0			c.G853T						PASS	.	T	,CYS/GLY	1527,2879	669.8+/-402.2	259,1009,935	115	120	118		,853	1.9	0	21	dbSNP_80	118	266,8334	803.6+/-407.3	4,258,4038	no	intron,missense	TSPEAR,KRTAP10-4	NM_144991.2,NM_198687.1	,159	263,1267,4973	TT,TG,GG		3.093,34.6573,13.7859	,benign	,285/402	45994488	1793,11213	2203	4300	6503	SO:0001583	missense	386672	exon1			CCTGTCGGCTCTG	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.853G>T	21.37:g.45994488G>T	ENSP00000383225:p.Gly285Cys	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	280	279	0.996429	NM_198687	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	365|365	0.1671245421245421|0.1671245421245421	181|181	0.3678861788617886|0.3678861788617886	33|33	0.09116022099447514|0.09116022099447514	130|130	0.22727272727272727|0.22727272727272727	21|21	0.027704485488126648|0.027704485488126648	T|t	0.403|0.403	-0.917088|-0.917088	0.02415|0.02415	0.346573|0.346573	0.03093|0.03093	ENSG00000215454|ENSG00000215454	ENST00000334871|ENST00000400374	.|T	.|0.00686	.|5.85	4.38|4.38	1.89|1.89	0.25635|0.25635	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	N|N	0.00019|0.00019	-2.79|-2.79	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.41698	.|-0.9494	.|8	.|0.02654	.|T	.|1	.|.	1.2795|1.2795	0.02037|0.02037	0.299:0.0913:0.154:0.4556|0.299:0.0913:0.154:0.4556	rs396912;rs396912|rs396912;rs396912	.|285	.|P60372	.|KR104_HUMAN	.|C	-1|285	.|ENSP00000383225:G285C	.|ENSP00000383225:G285C	.|G	+|+	.|1	.|0	KRTAP10-4|KRTAP10-4	44818916|44818916	0.040000|0.040000	0.19996|0.19996	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.499000|-0.499000	0.06413|0.06413	0.160000|0.160000	0.19432|0.19432	-0.320000|-0.320000	0.08662|0.08662	.|GGC	G|0.785;T|0.215	0.215	strong		0.642	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45994488	G	T	45994488	3	4	22	1	0	0	0	0	1	0	0	0	8511	1116	39	4	855	4	KRTAP10-4	21	45994488	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	498	45994488	2135407	10761	15869										
KRTAP10-4	386672	hgsc.bcm.edu	37	chr21	45994763	45994763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcccgcctgctgcgtgccCgtcccttcctgctgtgctcc	11	19	0	0	rs115169164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:45994763C>T	ENST00000400374.3	+	1	1158	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	376	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGCGTGCCCGTCCCTTCCT	0.711													.|||	103	0.0205671	0.0696	0.0144	5008	,	,		17408	0.0		0.0	False		,,,				2504	0.001				p.P376P		Atlas-SNP	.											.	KRTAP10-4	44	.	0			c.C1128T						PASS	.	C	,	273,4133	143.8+/-178.8	3,267,1933	59	72	68		,1128	2.3	0.1	21	dbSNP_132	68	1,8589		0,1,4294	no	intron,coding-synonymous	TSPEAR,KRTAP10-4	NM_144991.2,NM_198687.1	,	3,268,6227	TT,TC,CC		0.0116,6.1961,2.1083	,	,376/402	45994763	274,12722	2203	4295	6498	SO:0001819	synonymous_variant	386672	exon1			CGTGCCCGTCCCT	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1128C>T	21.37:g.45994763C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	104	52	0.5	NM_198687	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|0.980;T|0.020	0.020	strong		0.711	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45994763	C	T	45994763	2	4	22	1	0	0	0	0	0	0	0	1	8511	639	23	1		1	KRTAP10-4	21	45994763	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	275	45994763	2135132	10762	15870										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011406	46011406	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagaggcaccacaggagggGacgggcacgcagcaggtgga					rs374116165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011406G>T	ENST00000400368.1	-	1	980	c.960C>A	c.(958-960)gtC>gtA	p.V320V	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	320	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGGAGGGGACGGGCACGC	0.701													.|||	155	0.0309505	0.1127	0.0086	5008	,	,		19947	0.0		0.0	False		,,,				2504	0.0				p.V320V		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C960A						PASS	.						68	83	78					21																	46011406		2201	4300	6501	SO:0001819	synonymous_variant	386674	exon1			GGAGGGGACGGGC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.960C>A	21.37:g.46011406G>T		Somatic	362	0	0		WXS	Illumina HiSeq	Phase_I	258	46	0.178295	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	weak		0.701	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		T	46011406	G	T	46011406	2	4	22	1	0	0	0	0	0	0	0	1	8513	1161	41	4		4	KRTAP10-6	21	46011406	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16643	46011406	2118489	10763	15871	338	3								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011409	46011409	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcaccacaggaggggacGggcacgcagcaggtggactt					rs144363824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011409G>A	ENST00000400368.1	-	1	977	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	319	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGAGGGGACGGGCACGCAGC	0.697													.|||	155	0.0309505	0.1127	0.0086	5008	,	,		18795	0.0		0.0	False		,,,				2504	0.0				p.P319P		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C957T						PASS	.						70	85	80					21																	46011409		2201	4300	6501	SO:0001819	synonymous_variant	386674	exon1			GGGGACGGGCACG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.957C>T	21.37:g.46011409G>A		Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	265	54	0.203774	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			G|0.975;A|0.025	0.025	strong		0.697	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011409	G	A	46011409	2	1	22	1	0	0	0	0	0	0	0	1	8513	1103	39	1		1	KRTAP10-6	21	46011409	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	46011409	2118486	10764	15872	338	3								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011415	46011415	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaggaggggacgggcacGcagcaggtggacttgcacac					rs145570198		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011415G>A	ENST00000400368.1	-	1	971	c.951C>T	c.(949-951)tgC>tgT	p.C317C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	317	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGACGGGCACGCAGCAGGTGG	0.687																																					p.C317C		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C951T						PASS	.						70	84	79					21																	46011415		2202	4300	6502	SO:0001819	synonymous_variant	386674	exon1			GGGCACGCAGCAG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.951C>T	21.37:g.46011415G>A		Somatic	358	0	0		WXS	Illumina HiSeq	Phase_I	261	58	0.222222	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			G|0.976;A|0.024	0.024	strong		0.687	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011415	G	A	46011415	2	1	22	1	0	0	0	0	0	0	0	1	8513	1079	38	1		1	KRTAP10-6	21	46011415	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6	46011415	2118480	10765	15873	338	3								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011526	46011526	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagactgctggcagcatgaTgtggaagccccagagcagac	13	11	0	4	rs371768583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011526T>A	ENST00000400368.1	-	1	860	c.840A>T	c.(838-840)acA>acT	p.T280T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	280	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T280T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGCATGATGTGGAAGCCC	0.652													.|||	5	0.000998403	0.0008	0.0	5008	,	,		22429	0.001		0.0	False		,,,				2504	0.0031				p.T280T		Atlas-SNP	.											KRTAP10-6,NS,carcinoma,0,2	KRTAP10-6	57	2	1	Substitution - coding silent(1)	kidney(1)	c.A840T						scavenged	.						106	110	109					21																	46011526		2203	4300	6503	SO:0001819	synonymous_variant	386674	exon1			GCATGATGTGGAA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.840A>T	21.37:g.46011526T>A		Somatic	245	2	0.00816326		WXS	Illumina HiSeq	Phase_I	300	34	0.113333	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	weak		0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011526	T	A	46011526	2	1	22	1	0	0	0	0	0	0	0	1	8513	1451	51	5		5	KRTAP10-6	21	46011526	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	111	46011526	2118369	10766	15874										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011544	46011544	+	Silent	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtggaagccccagagcaGacgggcacacagcaggcgtg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011544G>C	ENST00000400368.1	-	1	842	c.822C>G	c.(820-822)gtC>gtG	p.V274V	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	274	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CCCCAGAGCAGACGGGCACAC	0.647																																					p.V274V		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C822G						PASS	.						112	115	114					21																	46011544		2203	4300	6503	SO:0001819	synonymous_variant	386674	exon1			AGAGCAGACGGGC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.822C>G	21.37:g.46011544G>C		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	327	33	0.100917	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.647	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46011544	G	C	46011544	2	2	22	1	0	0	0	0	0	0	0	1	8513	929	33	4		4	KRTAP10-6	21	46011544	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	18	46011544	2118351	10767	15875	339	2								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011547	46011547	+	Silent	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggaagccccagagcagacGggcacacagcaggcgtgctg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011547G>A	ENST00000400368.1	-	1	839	c.819C>T	c.(817-819)ccC>ccT	p.P273P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	273	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGAGCAGACGGGCACACAGC	0.652																																					p.P273P		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C819T						PASS	.						114	115	115					21																	46011547		2203	4300	6503	SO:0001819	synonymous_variant	386674	exon1			GCAGACGGGCACA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.819C>T	21.37:g.46011547G>A		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	330	34	0.10303	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011547	G	A	46011547	2	1	22	1	0	0	0	0	0	0	0	1	8513	1103	39	1		1	KRTAP10-6	21	46011547	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3	46011547	2118348	10768	15876	339	2								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011571	46011571	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acacagcaggcgtgctggcaGggggaggaggtgcagcaagc	19	9	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46011571G>T	ENST00000400368.1	-	1	815	c.795C>A	c.(793-795)ccC>ccA	p.P265P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	265	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CGTGCTGGCAGGGGGAGGAGG	0.642																																					p.P265P		Atlas-SNP	.											.	KRTAP10-6	57	.	0			c.C795A						PASS	.						118	120	119					21																	46011571		2203	4300	6503	SO:0001819	synonymous_variant	386674	exon1			CTGGCAGGGGGAG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.795C>A	21.37:g.46011571G>T		Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	341	21	0.0615836	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		T	46011571	G	T	46011571	2	4	22	1	0	0	0	0	0	0	0	1	8513	987	35	4		4	KRTAP10-6	21	46011571	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	24	46011571	2118324	10769	15877										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46012225	46012226	+	In_Frame_Ins	INS	-	-	CAGCAGCTGGGGGCA													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaggcagggggccggggcgINScagcaggggggctcacagca							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46012225_46012226insCAGCAGCTGGGGGCA	ENST00000400368.1	-	1	160_161	c.140_141insTGCCCCCAGCTGCTG	c.(139-141)tgc>tgTGCCCCCAGCTGCTGc	p.47_47C>CAPSCC	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	47	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGCCGGGGCGCAGCAGGGGGG	0.683																																					p.C47delinsCAPSCC		Pindel	.											.	KRTAP10-6	57	.	0			c.141_142insTGCCCCCAGCTGCTG						PASS	.																																			SO:0001652	inframe_insertion	386674	exon1			.	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.140_141insTGCCCCCAGCTGCTG	21.37:g.46012225_46012226insCAGCAGCTGGGGGCA	Exception_encountered	Somatic	93	.	.		WXS	Illumina HiSeq	Phase_I	58	14	0.241	NM_198688		In_Frame_Ins	INS	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.683	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		CAGCAGCTGGGGGCA	46012226	-	CAGCAGCTGGGGGCA	46012225	7	5	22	1	0	1	1	0	0	0	0	0	8513	1079	38	0	960	0	KRTAP10-6	21	46012225	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	654	46012225	2117670	10770	15878										
KRTAP10-7	386675	hgsc.bcm.edu	37	chr21	46021546	46021546	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccacctcctcctgccaggCcagctgctgccgcccagcct	8	23	0	0	rs116074123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46021546C>G	ENST00000380102.2	+	1	1050	c.1025C>G	c.(1024-1026)gCc>gGc	p.A342G	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	342	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						TCCTGCCAGGCCAGCTGCTGC	0.711													-|||	183	0.0365415	0.1331	0.0101	5008	,	,		15282	0.0		0.0	False		,,,				2504	0.0				p.A337G		Atlas-SNP	.											.	KRTAP10-7	41	.	0			c.C1010G						PASS	.	C	,GLY/ALA	439,3945		20,399,1773	32	38	36		,1025	3.7	1	21	dbSNP_132	36	4,8554		0,4,4275	no	intron,missense	TSPEAR,KRTAP10-7	NM_144991.2,NM_198689.2	,60	20,403,6048	GG,GC,CC		0.0467,10.0137,3.423	,benign	,342/376	46021546	443,12499	2192	4279	6471	SO:0001583	missense	386675	exon2			GCCAGGCCAGCTG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1025C>G	21.37:g.46021546C>G	ENSP00000369445:p.Ala342Gly	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	114	83	0.72807	NM_198689	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		50	0.022893772893772892	45	0.09146341463414634	5	0.013812154696132596	0	0.0	0	0.0	c	11.47	1.647906	0.29336	0.100137	4.67E-4	ENSG00000205441	ENST00000380102	T	0.00675	5.88	3.73	3.73	0.42828	.	.	.	.	.	T	0.00039	0.0001	N	0.24115	0.695	0.19575	N	0.999963	B	0.17038	0.02	B	0.14023	0.01	T	0.52586	-0.8556	9	0.72032	D	0.01	.	7.4909	0.27460	0.0:0.8767:0.0:0.1233	.	337	P60409-2	.	G	342	ENSP00000369445:A342G	ENSP00000369445:A342G	A	+	2	0	KRTAP10-7	44845974	0.490000	0.26012	1.000000	0.80357	0.413000	0.31143	1.890000	0.39728	1.805000	0.52779	0.467000	0.42956	GCC	C|0.974;G|0.026	0.026	strong		0.711	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		G	46021546	C	G	46021546	3	3	22	1	0	0	0	0	1	0	0	0	8514	739	26	4	1016	4	KRTAP10-7	21	46021546	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9321	46021546	2108349	10771	15879										
KRTAP10-9	386676	hgsc.bcm.edu	37	chr21	46047322	46047322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagctcctgcacgccctcGtgctgccagcagtctagctg	10	17	1	0	rs62220925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46047322G>A	ENST00000397911.3	+	1	283	c.234G>A	c.(232-234)tcG>tcA	p.S78S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	78	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCACGCCCTCGTGCTGCCAGC	0.677													G|||	719	0.14357	0.3495	0.0706	5008	,	,		18721	0.0109		0.0666	False		,,,				2504	0.1329				p.S78S		Atlas-SNP	.											.	KRTAP10-9	24	.	0			c.G234A						PASS	.	G	,	1407,2987		231,945,1021	55	69	64		,234	-6.7	0	21	dbSNP_129	64	509,8071		15,479,3796	no	intron,coding-synonymous	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,	246,1424,4817	AA,AG,GG		5.9324,32.0209,14.768	,	,78/293	46047322	1916,11058	2197	4290	6487	SO:0001819	synonymous_variant	386676	exon1			GCCCTCGTGCTGC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.234G>A	21.37:g.46047322G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	168	76	0.452381	NM_198690	A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	CCDS42961.1																																																																																			.	.	weak		0.677	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047322	G	A	46047322	2	1	22	1	0	0	0	0	0	0	0	1	8516	1132	40	1		1	KRTAP10-9	21	46047322	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25776	46047322	2082573	10772	15880										
KRTAP10-9	386676	hgsc.bcm.edu	37	chr21	46047348	46047348	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcagtctagctgccagcCggcttactgcacctcctccc					rs62220926	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46047348C>T	ENST00000397911.3	+	1	309	c.260C>T	c.(259-261)cCg>cTg	p.P87L	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	87	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGCTGCCAGCCGGCTTACTGC	0.682													C|||	705	0.140775	0.3449	0.0706	5008	,	,		18902	0.0109		0.0606	False		,,,				2504	0.1309				p.P87L		Atlas-SNP	.											.	KRTAP10-9	24	.	0			c.C260T						PASS	.	C	,LEU/PRO	1393,3001		227,939,1031	62	80	74		,260	2.3	0.3	21	dbSNP_129	74	433,8153		10,413,3870	no	intron,missense	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,98	237,1352,4901	TT,TC,CC		5.0431,31.7023,14.0678	,benign	,87/293	46047348	1826,11154	2197	4293	6490	SO:0001583	missense	386676	exon1			GCCAGCCGGCTTA	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.260C>T	21.37:g.46047348C>T	ENSP00000381009:p.Pro87Leu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	167	67	0.401198	NM_198690	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	234	0.10714285714285714	154	0.3130081300813008	32	0.08839779005524862	7	0.012237762237762238	41	0.05408970976253298	c	9.773	1.173270	0.21704	0.317023	0.050431	ENSG00000221837	ENST00000397911	T	0.00873	5.59	3.34	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	M	0.71206	2.165	0.80722	P	0.0	B	0.21753	0.06	B	0.14578	0.011	T	0.43147	-0.9409	7	.	.	.	.	3.6373	0.08154	0.2472:0.6162:0.0:0.1366	rs62220926	87	P60411	KR109_HUMAN	L	87	ENSP00000381009:P87L	.	P	+	2	0	KRTAP10-9	44871776	0.003000	0.15002	0.299000	0.25016	0.729000	0.41735	0.316000	0.19469	1.567000	0.49668	0.650000	0.86243	CCG	C|0.927;T|0.073	0.073	strong		0.682	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			T	46047348	C	T	46047348	3	4	22	1	0	0	0	0	1	0	0	0	8516	652	23	1	262	1	KRTAP10-9	21	46047348	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	26	46047348	2082547	10773	15881	340	2								
KRTAP10-9	386676	hgsc.bcm.edu	37	chr21	46047354	46047354	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtctagctgccagccggcttActgcacctcctccccctgcc					rs62220927	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46047354A>G	ENST00000397911.3	+	1	315	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	89	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCCGGCTTACTGCACCTCC	0.677													G|||	757	0.151158	0.382	0.0735	5008	,	,		18600	0.0109		0.0606	False		,,,				2504	0.1319				p.Y89C		Atlas-SNP	.											.	KRTAP10-9	24	.	0			c.A266G						PASS	.	G	,CYS/TYR	1527,2865	619.7+/-393.4	276,975,945	65	84	77		,266	3.3	0.6	21	dbSNP_129	77	440,8148	777.4+/-407.7	10,420,3864	no	intron,missense	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,194	286,1395,4809	GG,GA,AA		5.1234,34.7678,15.1541	,benign	,89/293	46047354	1967,11013	2196	4294	6490	SO:0001583	missense	386676	exon1			CGGCTTACTGCAC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.266A>G	21.37:g.46047354A>G	ENSP00000381009:p.Tyr89Cys	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	172	68	0.395349	NM_198690	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	251	0.11492673992673992	173	0.3516260162601626	32	0.08839779005524862	7	0.012237762237762238	39	0.051451187335092345	g	0.006	-2.039182	0.00402	0.347678	0.051234	ENSG00000221837	ENST00000397911	T	0.00609	6.24	3.34	3.34	0.38264	.	.	.	.	.	T	0.00012	0.0000	N	0.00001	-3.815	0.54753	P	1.799999999996249E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	7	.	.	.	.	5.2668	0.15603	0.1222:0.2084:0.6693:0.0	rs62220927	89	P60411	KR109_HUMAN	C	89	ENSP00000381009:Y89C	.	Y	+	2	0	KRTAP10-9	44871782	0.004000	0.15560	0.579000	0.28588	0.422000	0.31414	-0.003000	0.12901	0.518000	0.28383	-0.124000	0.14976	TAC	A|0.896;G|0.104	0.104	strong		0.677	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			G	46047354	A	G	46047354	3	3	22	1	0	0	0	0	1	0	0	0	8516	391	14	2	268	2	KRTAP10-9	21	46047354	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	46047354	2082541	10774	15882	340	2								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057343	46057343	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccactccagcatggccgcCtccaccatgtccatctgctc	6	21	1	0	rs76468958	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057343C>A	ENST00000380095.1	+	1	71	c.9C>A	c.(7-9)gcC>gcA	p.A3A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	3						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCATGGCCGCCTCCACCATGT	0.647													A|||	197	0.0393371	0.1362	0.0043	5008	,	,		18834	0.002		0.001	False		,,,				2504	0.0112				p.A3A		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.C9A						PASS	.	A	,	601,3805	770.0+/-413.7	46,509,1648	107	115	112		,9	-4.6	0	21	dbSNP_131	112	5,8595	818.7+/-406.8	0,5,4295	no	intron,coding-synonymous	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,	46,514,5943	AA,AC,CC		0.0581,13.6405,4.6594	,	,3/252	46057343	606,12400	2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			GGCCGCCTCCACC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.9C>A	21.37:g.46057343C>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	219	103	0.47032	NM_181688		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|0.960;A|0.040	0.040	strong		0.647	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46057343	C	A	46057343	2	1	22	1	0	0	0	0	0	0	0	1	8506	668	24	4		4	KRTAP10-10	21	46057343	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9989	46057343	2072552	10775	15883										
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057635	46057635	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgtgtgcctgtctgctgtGtgcccgtctgctgcgtgccc					rs114397261	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057635G>A	ENST00000380095.1	+	1	363	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	101	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						tgtctgctgtgtgcccgtctg	0.632													A|||	306	0.0611022	0.2118	0.0173	5008	,	,		18765	0.002		0.001	False		,,,				2504	0.0112				p.V101M		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.G301A						PASS	.	A	,MET/VAL	438,3968		76,286,1841	130	123	125		,301	-1.7	0	21	dbSNP_132	125	2,8594		0,2,4296	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	76,288,6137	AA,AG,GG		0.0233,9.941,3.3841	,possibly-damaging	,101/252	46057635	440,12562	2203	4298	6501	SO:0001583	missense	353333	exon1			TGCTGTGTGCCCG	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.301G>A	21.37:g.46057635G>A	ENSP00000369438:p.Val101Met	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	273	120	0.43956	NM_181688		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	1.285	-0.609223	0.03690	0.09941	2.33E-4	ENSG00000221859	ENST00000380095	T	0.01430	4.9	2.86	-1.68	0.08212	.	.	.	.	.	T	0.00073	0.0002	L	0.36672	1.1	0.09310	N	1	B	0.26195	0.144	B	0.34452	0.183	T	0.44128	-0.9348	9	0.44086	T	0.13	.	9.7593	0.40522	0.4446:0.0:0.5554:0.0	.	101	P60014	KR10A_HUMAN	M	101	ENSP00000369438:V101M	ENSP00000369438:V101M	V	+	1	0	KRTAP10-10	44882063	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.140000	0.10342	-1.728000	0.01366	-2.786000	0.00116	GTG	G|0.928;A|0.072	0.072	strong		0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46057635	G	A	46057635	3	1	22	1	0	0	0	0	1	0	0	0	8506	1377	48	2	303	2	KRTAP10-10	21	46057635	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	292	46057635	2072260	10776	15884	341	2								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057636	46057636	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgtgcctgtctgctgtgTgcccgtctgctgcgtgcccg					rs115298124	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057636T>A	ENST00000380095.1	+	1	364	c.302T>A	c.(301-303)gTg>gAg	p.V101E	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	101	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gtctgctgtgtgcccgtctgc	0.627													A|||	306	0.0611022	0.2118	0.0173	5008	,	,		19037	0.002		0.001	False		,,,				2504	0.0112				p.V101E		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.T302A						PASS	.	A	,GLU/VAL	550,3856		77,396,1730	131	124	126		,302	-5.7	0	21	dbSNP_132	126	2,8594		0,2,4296	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,121	77,398,6026	AA,AT,TT		0.0233,12.483,4.2455	,benign	,101/252	46057636	552,12450	2203	4298	6501	SO:0001583	missense	353333	exon1			GCTGTGTGCCCGT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.302T>A	21.37:g.46057636T>A	ENSP00000369438:p.Val101Glu	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	273	120	0.43956	NM_181688		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	0.032	-1.330391	0.01298	0.12483	2.33E-4	ENSG00000221859	ENST00000380095	T	0.01323	5.01	2.86	-5.72	0.02406	.	.	.	.	.	T	0.00012	0.0000	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	9	0.22706	T	0.39	.	1.3737	0.02215	0.2016:0.1241:0.184:0.4903	.	101	P60014	KR10A_HUMAN	E	101	ENSP00000369438:V101E	ENSP00000369438:V101E	V	+	2	0	KRTAP10-10	44882064	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.107000	0.03316	-4.925000	0.00027	-3.683000	0.00024	GTG	T|0.928;A|0.072	0.072	strong		0.627	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46057636	T	A	46057636	3	1	22	1	0	0	0	0	1	0	0	0	8506	1696	59	5	304	5	KRTAP10-10	21	46057636	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1	46057636	2072259	10777	15885	341	2								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057766	46057766	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acctcctccccatgccagcaGgcctgctgtgtgcctgtctg					rs142146787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057766G>C	ENST00000380095.1	+	1	494	c.432G>C	c.(430-432)caG>caC	p.Q144H	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	144	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CATGCCAGCAGGCCTGCTGTG	0.602													G|||	3	0.000599042	0.0015	0.0	5008	,	,		23205	0.0		0.0	False		,,,				2504	0.001				p.Q144H		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.G432C						PASS	.	G	,HIS/GLN	7,4399	12.9+/-30.5	0,7,2196	293	265	274		,432	-0.5	0.1	21	dbSNP_134	274	0,8600		0,0,4300	yes	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,24	0,7,6496	CC,CG,GG		0.0,0.1589,0.0538	,probably-damaging	,144/252	46057766	7,12999	2203	4300	6503	SO:0001583	missense	353333	exon1			CCAGCAGGCCTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.432G>C	21.37:g.46057766G>C	ENSP00000369438:p.Gln144His	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	172	53	0.30814	NM_181688		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	g	8.829	0.939468	0.18281	0.001589	0.0	ENSG00000221859	ENST00000380095	T	0.01178	5.22	3.27	-0.456	0.12190	.	.	.	.	.	T	0.05273	0.0140	M	0.91300	3.195	0.09310	N	1	D	0.56746	0.977	P	0.56343	0.796	T	0.12760	-1.0535	9	0.87932	D	0	.	5.8436	0.18647	0.632:0.0:0.368:0.0	.	144	P60014	KR10A_HUMAN	H	144	ENSP00000369438:Q144H	ENSP00000369438:Q144H	Q	+	3	2	KRTAP10-10	44882194	0.000000	0.05858	0.109000	0.21407	0.190000	0.23558	-1.200000	0.03029	0.065000	0.16485	0.461000	0.40582	CAG	G|1.000;C|0.000	0.000	weak		0.602	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057766	G	C	46057766	3	2	22	1	0	0	0	0	1	0	0	0	8506	991	35	4	434	4	KRTAP10-10	21	46057766	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	130	46057766	2072129	10778	15886	342	2								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057775	46057804	+	In_Frame_Del	DEL	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatgccagcaggcctgctgTgtgcctgtctgctctaagtc					rs138406502|rs587625812|rs587722247|rs146378555|rs587701287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057775_46057804delTGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	ENST00000380095.1	+	1	503_532	c.441_470delTGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	c.(439-471)tgtgtgcctgtctgctctaagtccgtctgctat>tgt	p.VPVCSKSVCY148del	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	148	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGGCCTGCTGTGTGCCTGTCTGCTCTAAGTCCGTCTGCTATGTGCCTGTG	0.622																																					p.147_157del		Atlas-Indel	.											.	KRTAP10-10	37	.	0			c.440_469del						PASS	.		,	9,4255		1,7,2124					,	2.3	0			280	5,8249		2,1,4124	no	coding,intron	TSPEAR,KRTAP10-10	NM_181688.1,NM_144991.2	,	3,8,6248	A1A1,A1R,RR		0.0606,0.2111,0.1118	,	,		14,12504				SO:0001651	inframe_deletion	353333	exon1			.	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.441_470delTGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	21.37:g.46057775_46057804delTGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	ENSP00000369438:p.Val148_Tyr157del	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	167	45	0.269461	NM_181688		In_Frame_Del	DEL	ENST00000380095.1	37	CCDS33585.1																																																																																			.	.	none		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		-	46057804	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	-	46057775	7	5	22	1	0	1	0	1	0	0	0	0	8506	1702	59	0	443	0	KRTAP10-10	21	46057775	In_Frame_Del	DEL	TGTGCCTGTCTGCTCTAAGTCCGTCTGCTA	TCGA-G8-6324-01A-11D-2210-10	9	46057775	2072120	10779	15887	342	2								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057943	46057943	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtgcaagtccacctgctgCgtgcccgtcccctcctgcgg					rs77446663		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057943C>T	ENST00000380095.1	+	1	671	c.609C>T	c.(607-609)tgC>tgT	p.C203C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	203	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCACCTGCTGCGTGCCCGTCC	0.692																																					p.C203C		Atlas-SNP	.											KRTAP10-10,NS,carcinoma,+2,1	KRTAP10-10	37	1	0			c.C609T						PASS	.						97	100	99					21																	46057943		2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			CTGCTGCGTGCCC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.609C>T	21.37:g.46057943C>T		Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	456	117	0.256579	NM_181688		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|0.982;T|0.018	0.018	strong		0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		T	46057943	C	T	46057943	2	4	22	1	0	0	0	0	0	0	0	1	8506	776	27	1		1	KRTAP10-10	21	46057943	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	168	46057943	2071952	10780	15888	343	3								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057949	46057949	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtccacctgctgcgtgccCgtcccctcctgcggtgcctc					rs78352751	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057949C>T	ENST00000380095.1	+	1	677	c.615C>T	c.(613-615)ccC>ccT	p.P205P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	205	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCTGCGTGCCCGTCCCCTCCT	0.701													C|||	103	0.0205671	0.0756	0.0043	5008	,	,		20099	0.0		0.0	False		,,,				2504	0.0				p.P205P		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.C615T						PASS	.						95	98	97					21																	46057949		2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			CGTGCCCGTCCCC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.615C>T	21.37:g.46057949C>T		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	471	121	0.2569	NM_181688		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|0.982;T|0.018	0.018	strong		0.701	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		T	46057949	C	T	46057949	2	4	22	1	0	0	0	0	0	0	0	1	8506	639	23	1		1	KRTAP10-10	21	46057949	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6	46057949	2071946	10781	15889	343	3								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057952	46057952	+	Silent	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccacctgctgcgtgcccgtCccctcctgcggtgcctctgc					rs74701761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46057952C>A	ENST00000380095.1	+	1	680	c.618C>A	c.(616-618)gtC>gtA	p.V206V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	206	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCGTGCCCGTCCCCTCCTGCG	0.706													C|||	103	0.0205671	0.0756	0.0043	5008	,	,		19027	0.0		0.0	False		,,,				2504	0.0				p.V206V		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.C618A						PASS	.						91	95	94					21																	46057952		2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			GCCCGTCCCCTCC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.618C>A	21.37:g.46057952C>A		Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	473	113	0.238901	NM_181688		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|0.982;A|0.018	0.018	strong		0.706	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46057952	C	A	46057952	2	1	22	1	0	0	0	0	0	0	0	1	8506	842	30	4		4	KRTAP10-10	21	46057952	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	46057952	2071943	10782	15890	343	3								
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46058043	46058043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgccgccccgtgtgctccCgccctgcctgctacagcctc	9	21	1	0	rs77109703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46058043C>T	ENST00000380095.1	+	1	771	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	237						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CGTGTGCTCCCGCCCTGCCTG	0.692																																					p.R237C		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.C709T						PASS	.	C	,CYS/ARG	389,4017	164.7+/-196.3	0,389,1814	49	53	52		,709	-1.5	0	21	dbSNP_131	52	4,8590	1.2+/-3.3	0,4,4293	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,180	0,393,6107	TT,TC,CC		0.0465,8.8289,3.0231	,benign	,237/252	46058043	393,12607	2203	4297	6500	SO:0001583	missense	353333	exon1			TGCTCCCGCCCTG	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.709C>T	21.37:g.46058043C>T	ENSP00000369438:p.Arg237Cys	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	380	84	0.221053	NM_181688		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	48	0.02197802197802198	47	0.09552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	c	4.111	0.018755	0.07959	0.088289	4.65E-4	ENSG00000221859	ENST00000380095	T	0.01422	4.91	3.52	-1.53	0.08611	.	.	.	.	.	T	0.00073	0.0002	M	0.78285	2.405	0.36787	D	0.884654	B	0.28636	0.218	B	0.18871	0.023	T	0.50466	-0.8825	9	0.66056	D	0.02	.	4.2298	0.10597	0.3112:0.4801:0.0:0.2088	.	237	P60014	KR10A_HUMAN	C	237	ENSP00000369438:R237C	ENSP00000369438:R237C	R	+	1	0	KRTAP10-10	44882471	0.000000	0.05858	0.038000	0.18304	0.008000	0.06430	-1.152000	0.03172	-0.202000	0.10268	-0.444000	0.05651	CGC	C|0.966;T|0.034	0.034	strong		0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		T	46058043	C	T	46058043	3	4	22	1	0	0	0	0	1	0	0	0	8506	652	23	1	711	1	KRTAP10-10	21	46058043	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91	46058043	2071852	10783	15891										
KRTAP10-12	386685	hgsc.bcm.edu	37	chr21	46117553	46117553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcttgctgcatctcctcccCgtgtcaacagtcctgctgtg	9	15	2	0	rs35076450	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46117553C>A	ENST00000400365.3	+	1	467	c.437C>A	c.(436-438)cCg>cAg	p.P146Q	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	146	19 X 5 AA repeats of C-C-X(3).		P -> Q (in dbSNP:rs35076450).			keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						ATCTCCTCCCCGTGTCAACAG	0.612													C|||	19	0.00379393	0.0136	0.0014	5008	,	,		19291	0.0		0.0	False		,,,				2504	0.0				p.P146Q		Atlas-SNP	.											.	KRTAP10-12	21	.	0			c.C437A						PASS	.	C	GLN/PRO,	66,4340	61.7+/-98.7	1,64,2138	161	165	164		437,	0.9	0.1	21	dbSNP_126	164	0,8600		0,0,4300	no	missense,intron	TSPEAR,KRTAP10-12	NM_198699.1,NM_144991.2	76,	1,64,6438	AA,AC,CC		0.0,1.498,0.5075	possibly-damaging,	146/246,	46117553	66,12940	2203	4300	6503	SO:0001583	missense	386685	exon1			CCTCCCCGTGTCA	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.437C>A	21.37:g.46117553C>A	ENSP00000383216:p.Pro146Gln	Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	265	136	0.513208	NM_198699	B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	c	0.797	-0.756781	0.03019	0.01498	0.0	ENSG00000189169	ENST00000400365;ENST00000452870	T	0.00644	6.01	2.19	0.906	0.19314	.	.	.	.	.	T	0.00552	0.0018	L	0.56280	1.765	0.09310	N	1	P	0.36660	0.564	B	0.32149	0.141	T	0.48536	-0.9027	9	0.54805	T	0.06	.	5.9287	0.19126	0.0:0.5224:0.4776:0.0	rs35076450	146	P60413	KR10C_HUMAN	Q	146;54	ENSP00000383216:P146Q	ENSP00000383216:P146Q	P	+	2	0	KRTAP10-12	44941981	0.001000	0.12720	0.088000	0.20740	0.003000	0.03518	0.160000	0.16462	0.881000	0.35993	0.305000	0.20034	CCG	C|0.995;A|0.005	0.005	strong		0.612	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		A	46117553	C	A	46117553	3	1	22	1	0	0	0	0	1	0	0	0	8508	652	23	4	439	4	KRTAP10-12	21	46117553	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	59510	46117553	2012342	10784	15892										
KRTAP10-12	386685	hgsc.bcm.edu	37	chr21	46117746	46117746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacccgcccgccgcgtgccCgtcccctcctgctgtgtccc	10	22	0	1	rs112431728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46117746C>T	ENST00000400365.3	+	1	660	c.630C>T	c.(628-630)ccC>ccT	p.P210P	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	210	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						GCCGCGTGCCCGTCCCCTCCT	0.721													a|||	33	0.00658946	0.0242	0.0014	5008	,	,		14658	0.0		0.0	False		,,,				2504	0.0				p.P210P		Atlas-SNP	.											.	KRTAP10-12	21	.	0			c.C630T						PASS	.	A	,	115,4287		1,113,2087	53	68	63		,630	0.8	0.4	21	dbSNP_132	63	1,8581		0,1,4290	no	intron,coding-synonymous	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,	1,114,6377	TT,TC,CC		0.0117,2.6124,0.8934	,	,210/246	46117746	116,12868	2201	4291	6492	SO:0001819	synonymous_variant	386685	exon1			CGTGCCCGTCCCC	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.630C>T	21.37:g.46117746C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	81	44	0.54321	NM_198699	B2RPA3	Silent	SNP	ENST00000400365.3	37	CCDS42967.1																																																																																			C|0.994;T|0.006	0.006	strong		0.721	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		T	46117746	C	T	46117746	2	4	22	1	0	0	0	0	0	0	0	1	8508	639	23	1		1	KRTAP10-12	21	46117746	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	193	46117746	2012149	10785	15893										
C21orf70	85395	hgsc.bcm.edu	37	chr21	46380068	46380068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaaatgaagctgaggcgtGagcaatggttgcagagtaag	15	4	0	5	rs141593051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46380068G>A	ENST00000291634.6	+	3	385	c.337G>A	c.(337-339)Gag>Aag	p.E113K	FAM207A_ENST00000397826.3_Missense_Mutation_p.E98K|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	113																	GCTGAGGCGTGAGCAATGGTT	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21685	0.0		0.0	False		,,,				2504	0.0				p.E113K		Atlas-SNP	.											.	.	.	.	0			c.G337A						PASS	.	G	LYS/GLU	5,4401	11.4+/-27.6	0,5,2198	128	101	110		337	3.2	0.4	21	dbSNP_134	110	0,8600		0,0,4300	yes	missense	FAM207A	NM_058190.2	56	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	113/231	46380068	5,13001	2203	4300	6503	SO:0001583	missense	85395	exon3			AGGCGTGAGCAAT		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.337G>A	21.37:g.46380068G>A	ENSP00000291634:p.Glu113Lys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	95	47	0.494737	NM_058190		Missense_Mutation	SNP	ENST00000291634.6	37	CCDS13718.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.04	1.240186	0.22711	0.001135	0.0	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T;T	0.47177	0.85;0.85;0.85	3.24	3.24	0.37175	.	0.168860	0.50627	D	0.000105	T	0.36276	0.0961	L	0.55743	1.74	0.40834	D	0.983615	P;B	0.46142	0.873;0.021	B;B	0.44044	0.439;0.037	T	0.48281	-0.9049	10	0.62326	D	0.03	-19.5017	10.2398	0.43305	0.0:0.0:1.0:0.0	.	98;113	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	K	113;98;98	ENSP00000291634:E113K;ENSP00000380926:E98K;ENSP00000404964:E98K	ENSP00000291634:E113K	E	+	1	0	C21orf70	45204496	0.782000	0.28689	0.427000	0.26684	0.158000	0.22134	2.095000	0.41729	2.110000	0.64415	0.650000	0.86243	GAG	G|0.999;A|0.001	0.001	strong		0.572	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		A	46380068	G	A	46380068	3	1	22	1	0	0	0	0	1	0	0	0	2133	1291	45	2	347	2	C21orf70	21	46380068	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	262322	46380068	1749827	10786	15894										
C21orf70	85395	hgsc.bcm.edu	37	chr21	46396659	46396659	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctacagagccagccccctgGtggccatcgggcagacgctg	13	16	0	2	rs3737075	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46396659G>C	ENST00000291634.6	+	6	682	c.634G>C	c.(634-636)Gtg>Ctg	p.V212L	FAM207A_ENST00000397826.3_Missense_Mutation_p.V197L|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	212			V -> L (in dbSNP:rs3737075).														CAGCCCCCTGGTGGCCATCGG	0.632													G|||	762	0.152157	0.2042	0.2522	5008	,	,		15848	0.1091		0.165	False		,,,				2504	0.0419				p.V212L		Atlas-SNP	.											.	.	.	.	0			c.G634C						PASS	.	G	LEU/VAL	905,3417		109,687,1365	11	12	12		634	0	1	21	dbSNP_107	12	1335,7185		112,1111,3037	no	missense	FAM207A	NM_058190.2	32	221,1798,4402	CC,CG,GG		15.669,20.9394,17.4428	benign	212/231	46396659	2240,10602	2161	4260	6421	SO:0001583	missense	85395	exon6			CCCCTGGTGGCCA		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.634G>C	21.37:g.46396659G>C	ENSP00000291634:p.Val212Leu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	23	0.511111	NM_058190		Missense_Mutation	SNP	ENST00000291634.6	37	CCDS13718.1	364	0.16666666666666666	104	0.21138211382113822	67	0.1850828729281768	66	0.11538461538461539	127	0.16754617414248021	G	0.367	-0.935981	0.02340	0.209394	0.15669	ENSG00000160256	ENST00000291634;ENST00000397826	T;T	0.41065	1.01;1.01	4.35	0.0344	0.14183	.	0.627114	0.15229	N	0.273539	T	0.00012	0.0000	N	0.01352	-0.895	0.46478	P	9.320000000000439E-4	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.27331	-1.0077	9	0.02654	T	1	-6.2649	2.8182	0.05464	0.1701:0.3614:0.364:0.1045	rs3737075;rs4819002;rs60509357	197;212	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	L	212;197	ENSP00000291634:V212L;ENSP00000380926:V197L	ENSP00000291634:V212L	V	+	1	0	C21orf70	45221087	0.000000	0.05858	0.967000	0.41034	0.040000	0.13550	-0.231000	0.09069	0.181000	0.19994	-0.321000	0.08615	GTG	G|0.835;C|0.165	0.165	strong		0.632	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		C	46396659	G	C	46396659	3	2	22	1	0	0	0	0	1	0	0	0	2133	1261	44	4	656	4	C21orf70	21	46396659	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16591	46396659	1733236	10787	15895										
ADARB1	104	hgsc.bcm.edu	37	chr21	46641968	46641968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctacgctccaagattaccaaGcccaacgtgtaccatgagtc	7	14	0	2	rs1051367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46641968G>A	ENST00000360697.3	+	10	2097	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	ADARB1_ENST00000389863.4_Silent_p.K694K|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.K654K|ADARB1_ENST00000539173.1_Silent_p.K694K			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	694	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AGATTACCAAGCCCAACGTGT	0.527													G|||	2474	0.49401	0.3979	0.464	5008	,	,		18691	0.5595		0.5606	False		,,,				2504	0.5092				p.K694K		Atlas-SNP	.											.	ADARB1	81	.	0			c.G2082A						PASS	.	G	,,,	1879,2527	538.1+/-374.9	411,1057,735	67	60	62		1962,1962,2082,2082	-2.6	0.4	21	dbSNP_86	62	4583,4015	597.1+/-393.7	1271,2041,987	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADARB1	NM_001112.3,NM_001160230.1,NM_015833.3,NM_015834.3	,,,	1682,3098,1722	AA,AG,GG		46.6969,42.6464,49.6924	,,,	654/702,654/675,694/742,694/715	46641968	6462,6542	2203	4299	6502	SO:0001819	synonymous_variant	104	exon12			TACCAAGCCCAAC	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.2082G>A	21.37:g.46641968G>A		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	268	129	0.481343	NM_015834	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	CCDS33589.1	1164	0.532967032967033	211	0.42886178861788615	173	0.47790055248618785	334	0.583916083916084	446	0.5883905013192612	G	3.092	-0.186757	0.06340	0.426464	0.533031	ENSG00000197381	ENST00000539917	.	.	.	5.05	-2.64	0.06114	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999990447	.	.	.	.	.	.	T	0.42582	-0.9443	4	0.26408	T	0.33	-38.1517	11.1863	0.48657	0.6426:0.0:0.3574:0.0	rs1051367;rs2228610;rs3191756;rs10451782;rs17417312;rs58045464;rs10451782	.	.	.	T	694	.	ENSP00000445318:A694T	A	+	1	0	ADARB1	45466396	1.000000	0.71417	0.362000	0.25862	0.336000	0.28762	0.686000	0.25392	-0.532000	0.06332	-0.768000	0.03414	GCC	G|0.494;A|0.506	0.506	strong		0.527	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		A	46641968	G	A	46641968	2	1	22	1	0	0	0	0	0	0	0	1	282	962	34	2		2	ADARB1	21	46641968	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	245309	46641968	1487927	10788	15896										
POFUT2	23275	hgsc.bcm.edu	37	chr21	46685550	46685550	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actgaggtgccaataaaaaaCctgcaaaggatcacagaggt	10	8	1	2	rs112907087	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46685550C>T	ENST00000349485.5	-	9	1163	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	379					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CAATAAAAAACCTGCAAAGGA	0.493													C|||	27	0.00539137	0.0204	0.0	5008	,	,		16487	0.0		0.0	False		,,,				2504	0.0				p.R379R		Atlas-SNP	.											.	POFUT2	77	.	0			c.G1137A						PASS	.	C	,	86,4320	74.1+/-112.3	1,84,2118	52	57	56		,1137	3.9	1	21	dbSNP_132	56	0,8600		0,0,4300	yes	utr-3,coding-synonymous-near-splice	POFUT2	NM_015227.4,NM_133635.4	,	1,84,6418	TT,TC,CC		0.0,1.9519,0.6612	,	,379/430	46685550	86,12920	2203	4300	6503	SO:0001630	splice_region_variant	23275	exon9			AAAAAACCTGCAA	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1137-1G>A	21.37:g.46685550C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_133635	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	CCDS13719.1																																																																																			C|0.992;T|0.008	0.008	strong		0.493	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	Silent	T	46685550	C	T	46685550	5	4	22	1	0	0	0	0	0	0	1	0	12184	521	18	2	156	2	POFUT2	21	46685550	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	43582	46685550	1444345	10789	15897										
COL18A1	80781	hgsc.bcm.edu	37	chr21	46900062	46900062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggaccctccttcagacacGacaagctggtaagtcccgcc	9	16	1	1	rs61738822	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46900062G>A	ENST00000359759.4	+	10	2656	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	COL18A1_ENST00000400337.2_Missense_Mutation_p.D464N|COL18A1_ENST00000355480.5_Missense_Mutation_p.D644N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	879	Nonhelical region 3 (NC3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTTCAGACACGACAAGCTGGT	0.642													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		14900	0.0		0.0	False		,,,				2504	0.0				p.D644N		Atlas-SNP	.											.	COL18A1	129	.	0			c.G1930A						PASS	.	G	ASN/ASP,ASN/ASP	53,3705		0,53,1826	17	22	21		1930,1390	3.2	0.9	21	dbSNP_129	21	0,8226		0,0,4113	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	23,23	0,53,5939	AA,AG,GG		0.0,1.4103,0.4423	possibly-damaging,possibly-damaging	644/1520,464/1340	46900062	53,11931	1879	4113	5992	SO:0001583	missense	80781	exon10			AGACACGACAAGC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2635G>A	21.37:g.46900062G>A	ENSP00000352798:p.Asp879Asn	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	76	41	0.539474	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	17.19	3.325962	0.60743	0.014103	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90788	-2.72;-2.73;-2.64	3.19	3.19	0.36642	.	0.545209	0.16627	N	0.206240	D	0.88385	0.6422	L	0.56769	1.78	0.40960	D	0.984616	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	D	0.89130	0.3509	10	0.59425	D	0.04	.	10.0536	0.42230	0.0:0.0:1.0:0.0	rs61738822	879;644;464	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	464;464;644;879;879	ENSP00000383191:D464N;ENSP00000347665:D644N;ENSP00000352798:D879N	ENSP00000347665:D644N	D	+	1	0	COL18A1	45724490	1.000000	0.71417	0.858000	0.33744	0.334000	0.28698	5.592000	0.67543	1.812000	0.52913	0.561000	0.74099	GAC	G|0.996;A|0.004	0.004	strong		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			A	46900062	G	A	46900062	3	1	22	1	0	0	0	0	1	0	0	0	3675	1058	37	1	2787	1	COL18A1	21	46900062	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	214512	46900062	1229833	10790	15898										
COL18A1	80781	hgsc.bcm.edu	37	chr21	46900670	46900670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtcccaggcctgcccggCgagccaggccgctttggggt	17	14	0	0	rs112723616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:46900670C>T	ENST00000359759.4	+	12	2775	c.2754C>T	c.(2752-2754)ggC>ggT	p.G918G	COL18A1_ENST00000400337.2_Silent_p.G503G|COL18A1_ENST00000355480.5_Silent_p.G683G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	918	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTGCCCGGCGAGCCAGGCC	0.716													C|||	68	0.0135783	0.0454	0.0115	5008	,	,		11100	0.0		0.0	False		,,,				2504	0.0				p.G683G		Atlas-SNP	.											.	COL18A1	129	.	0			c.C2049T						PASS	.	C	,	141,3665		4,133,1766	21	26	24		2049,1509	-8.1	0.9	21	dbSNP_132	24	1,8213		0,1,4106	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	4,134,5872	TT,TC,CC		0.0122,3.7047,1.1814	,	683/1520,503/1340	46900670	142,11878	1903	4107	6010	SO:0001819	synonymous_variant	80781	exon12			GCCCGGCGAGCCA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2754C>T	21.37:g.46900670C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	57	36	0.631579	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37																																																																																				C|0.990;T|0.010	0.010	strong		0.716	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46900670	C	T	46900670	2	4	22	1	0	0	0	0	0	0	0	1	3675	755	27	1		1	COL18A1	21	46900670	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	608	46900670	1229225	10791	15899										
PCBP3	54039	hgsc.bcm.edu	37	chr21	47329352	47329352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtgcctgccagccagtgTgggtccctgatcggcaaagg	16	11	0	1	rs2277812	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47329352T>C	ENST00000400314.1	+	8	761	c.423T>C	c.(421-423)tgT>tgC	p.C141C	PCBP3_ENST00000400310.1_Silent_p.C141C|PCBP3_ENST00000400309.1_Silent_p.C141C|PCBP3_ENST00000449640.1_Silent_p.C141C|PCBP3_ENST00000400308.1_Silent_p.C141C|PCBP3_ENST00000400304.1_Silent_p.C109C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	141	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGCCAGTGTGGGTCCCTGA	0.627													C|||	4414	0.88139	0.9531	0.8098	5008	,	,		14211	0.997		0.7068	False		,,,				2504	0.8957				p.C141C		Atlas-SNP	.											.	PCBP3	82	.	0			c.T423C						PASS	.	C	,	3831,301		1777,277,12	47	55	53		423,423	-8.4	0.1	21	dbSNP_100	53	5860,2590		2044,1772,409	no	coding-synonymous,coding-synonymous	PCBP3	NM_001130141.1,NM_020528.2	,	3821,2049,421	CC,CT,TT		30.6509,7.2846,22.9773	,	141/346,141/372	47329352	9691,2891	2066	4225	6291	SO:0001819	synonymous_variant	54039	exon6			CCAGTGTGGGTCC	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.423T>C	21.37:g.47329352T>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_001130141	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	CCDS42974.2																																																																																			T|0.204;C|0.796	0.796	strong		0.627	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			C	47329352	T	C	47329352	2	2	22	1	0	0	0	0	0	0	0	1	11502	1702	59	2		2	PCBP3	21	47329352	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	428682	47329352	800543	10792	15900										
COL6A2	1292	hgsc.bcm.edu	37	chr21	47535816	47535816	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaacatgggtgagccgggaGagcctggccagaagggaaga	18	8	0	4	rs61735835	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47535816G>A	ENST00000300527.4	+	6	936	c.832G>A	c.(832-834)Gag>Aag	p.E278K	COL6A2_ENST00000357838.4_Missense_Mutation_p.E278K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E278K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E278K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E278K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	278	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGAGCCGGGAGAGCCTGGCCA	0.657													G|||	41	0.0081869	0.028	0.0014	5008	,	,		15727	0.003		0.0	False		,,,				2504	0.0				p.E278K		Atlas-SNP	.											.	COL6A2	351	.	0			c.G832A						PASS	.	G	LYS/GLU,LYS/GLU,LYS/GLU	105,4295	83.4+/-121.9	2,101,2097	63	57	59		832,832,832	4	1	21	dbSNP_129	59	2,8596	1.2+/-3.3	0,2,4297	yes	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	56,56,56	2,103,6394	AA,AG,GG		0.0233,2.3864,0.8232	possibly-damaging,possibly-damaging,possibly-damaging	278/1020,278/919,278/829	47535816	107,12891	2200	4299	6499	SO:0001583	missense	1292	exon6			CCGGGAGAGCCTG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.832G>A	21.37:g.47535816G>A	ENSP00000300527:p.Glu278Lys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	58	32	0.551724	NM_058175	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	G	12.81	2.050127	0.36181	0.023864	2.33E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	3.98	3.98	0.46160	.	1.534500	0.03661	N	0.242608	T	0.77418	0.4127	N	0.22421	0.69	0.25510	N	0.987462	P;P;P	0.49090	0.897;0.919;0.55	P;P;B	0.51615	0.675;0.514;0.198	T	0.78476	-0.2189	10	0.11485	T	0.65	-9.2802	11.7636	0.51918	0.0:0.0:0.7742:0.2258	rs61735835	278;278;278	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	K	278	ENSP00000300527:E278K;ENSP00000350497:E278K;ENSP00000312529:E278K;ENSP00000387115:E278K;ENSP00000380870:E278K	ENSP00000300527:E278K	E	+	1	0	COL6A2	46360244	0.075000	0.21258	1.000000	0.80357	0.787000	0.44495	0.977000	0.29475	1.956000	0.56807	0.555000	0.69702	GAG	G|0.991;A|0.009	0.009	strong		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47535816	G	A	47535816	3	1	22	1	0	0	0	0	1	0	0	0	3700	943	33	2	850	2	COL6A2	21	47535816	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	206464	47535816	594079	10793	15901										
COL6A2	1292	hgsc.bcm.edu	37	chr21	47545889	47545889	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatcaaggagagccggcgCcagaagacacgtgtgtttgc	13	11	2	3	rs61735829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47545889C>G	ENST00000300527.4	+	26	2264	c.2160C>G	c.(2158-2160)cgC>cgG	p.R720R	COL6A2_ENST00000357838.4_Silent_p.R720R|COL6A2_ENST00000397763.1_Silent_p.R720R|COL6A2_ENST00000310645.5_Silent_p.R720R|COL6A2_ENST00000409416.1_Silent_p.R720R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	720	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGAGCCGGCGCCAGAAGACAC	0.637													C|||	82	0.0163738	0.059	0.0058	5008	,	,		14676	0.0		0.0	False		,,,				2504	0.0				p.R720R		Atlas-SNP	.											COL6A2_ENST00000357838,NS,carcinoma,+2,3	COL6A2	351	3	0			c.C2160G						PASS	.	C	,,	227,4179	135.3+/-171.4	6,215,1982	68	67	67		2160,2160,2160	0.1	1	21	dbSNP_129	67	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	6,218,6279	GG,GC,CC		0.0349,5.1521,1.7684	,,	720/1020,720/919,720/829	47545889	230,12776	2203	4300	6503	SO:0001819	synonymous_variant	1292	exon26			CCGGCGCCAGAAG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2160C>G	21.37:g.47545889C>G		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	166	86	0.518072	NM_058175	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																			C|0.982;G|0.018	0.018	strong		0.637	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			G	47545889	C	G	47545889	2	3	22	1	0	0	0	0	0	0	0	1	3700	726	26	4		4	COL6A2	21	47545889	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10073	47545889	584006	10794	15902										
C21orf56	84221	hgsc.bcm.edu	37	chr21	47581508	47581508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcgctgaacgccgggtgcaCgtcgcggctgtagcccagct	14	15	0	1	rs74518516	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47581508C>A	ENST00000291672.5	-	5	1869	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L	SPATC1L_ENST00000330205.6_Missense_Mutation_p.V116L	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	270																	GCCGGGTGCACGTCGCGGCTG	0.692													C|||	122	0.024361	0.0877	0.0086	5008	,	,		12794	0.0		0.0	False		,,,				2504	0.0				p.V270L		Atlas-SNP	.											.	.	.	.	0			c.G808T						PASS	.	C	LEU/VAL,LEU/VAL	406,3986		22,362,1812	23	25	24		808,346	4.3	1	21	dbSNP_131	24	4,8584		0,4,4290	yes	missense,missense	C21orf56	NM_001142854.1,NM_032261.4	32,32	22,366,6102	AA,AC,CC		0.0466,9.2441,3.1587	benign,benign	270/341,116/187	47581508	410,12570	2196	4294	6490	SO:0001583	missense	84221	exon5			GGTGCACGTCGCG	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.808G>T	21.37:g.47581508C>A	ENSP00000291672:p.Val270Leu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	99	57	0.575758	NM_001142854	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	CCDS46653.1	57	0.0260989010989011	52	0.10569105691056911	5	0.013812154696132596	0	0.0	0	0.0	C	13.27	2.188243	0.38609	0.092441	4.66E-4	ENSG00000160284	ENST00000330205;ENST00000291672	T;T	0.50001	0.76;0.76	4.27	4.27	0.50696	.	0.098443	0.41938	D	0.000800	T	0.00637	0.0021	L	0.38838	1.175	0.27740	N	0.944518	B	0.32968	0.392	B	0.27380	0.079	T	0.02411	-1.1163	10	0.51188	T	0.08	-27.6288	8.1902	0.31363	0.0:0.8871:0.0:0.1129	.	270	Q9H0A9	CU056_HUMAN	L	116;270	ENSP00000333869:V116L;ENSP00000291672:V270L	ENSP00000291672:V270L	V	-	1	0	C21orf56	46405936	0.803000	0.28956	0.979000	0.43373	0.918000	0.54935	1.358000	0.34102	1.929000	0.55896	0.591000	0.81541	GTG	C|0.971;A|0.029	0.029	strong		0.692	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		A	47581508	C	A	47581508	3	1	22	1	0	0	0	0	1	0	0	0	2127	536	19	4	218	4	C21orf56	21	47581508	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	35619	47581508	548387	10795	15903										
C21orf56	84221	hgsc.bcm.edu	37	chr21	47588365	47588365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaaggggctcaggagcgggGacagcttcctgtcggtgcct	17	11	1	0	rs73908565	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47588365G>A	ENST00000291672.5	-	3	1462	c.401C>T	c.(400-402)tCc>tTc	p.S134F	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	134																	CAGGAGCGGGGACAGCTTCCT	0.647													G|||	123	0.0245607	0.09	0.0058	5008	,	,		16558	0.0		0.0	False		,,,				2504	0.0				p.S134F		Atlas-SNP	.											.	.	.	.	0			c.C401T						PASS	.	G	PHE/SER,	106,1278		7,92,593	49	52	51		401,	3.2	0.7	21	dbSNP_130	51	1,3181		0,1,1590	yes	missense,utr-5	C21orf56	NM_001142854.1,NM_032261.4	155,	7,93,2183	AA,AG,GG		0.0314,7.659,2.3434	probably-damaging,	134/341,	47588365	107,4459	692	1591	2283	SO:0001583	missense	84221	exon3			AGCGGGGACAGCT	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.401C>T	21.37:g.47588365G>A	ENSP00000291672:p.Ser134Phe	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	57	0.448819	NM_001142854	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	CCDS46653.1	46	0.021062271062271064	44	0.08943089430894309	2	0.0055248618784530384	0	0.0	0	0.0	G	10.80	1.453781	0.26161	0.07659	3.14E-4	ENSG00000160284	ENST00000291672	T	0.55588	0.51	5.21	3.23	0.37069	.	0.477138	0.17215	N	0.182544	T	0.02193	0.0068	L	0.29908	0.895	0.09310	N	0.999992	P	0.44195	0.828	P	0.45138	0.471	T	0.00449	-1.1732	10	0.31617	T	0.26	-26.6257	12.7958	0.57558	0.0:0.3352:0.6648:0.0	.	134	Q9H0A9	CU056_HUMAN	F	134	ENSP00000291672:S134F	ENSP00000291672:S134F	S	-	2	0	C21orf56	46412793	0.073000	0.21202	0.739000	0.30968	0.521000	0.34408	0.543000	0.23237	1.164000	0.42652	0.467000	0.42956	TCC	G|0.978;A|0.022	0.022	strong		0.647	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		A	47588365	G	A	47588365	3	1	22	1	0	0	0	0	1	0	0	0	2127	1174	41	2	633	2	C21orf56	21	47588365	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6857	47588365	541530	10796	15904										
LSS	4047	hgsc.bcm.edu	37	chr21	47614443	47614443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcatggcccagcatgtgttAtggatctgggactgggcact	13	9	2	0	rs2254522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47614443A>G	ENST00000397728.3	-	20	2028	c.1950T>C	c.(1948-1950)caT>caC	p.H650H	LSS_ENST00000457828.2_Silent_p.H570H|LSS_ENST00000356396.4_Silent_p.H650H|LSS_ENST00000522411.1_Silent_p.H639H|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	650					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCATGTGTTATGGATCTGGG	0.622													G|||	1695	0.338458	0.3253	0.2637	5008	,	,		20984	0.5655		0.1958	False		,,,				2504	0.3221				p.H650H	Pancreas(114;955 2313 34923 50507)	Atlas-SNP	.											.	LSS	50	.	0			c.T1950C						PASS	.	G	,,,	1379,3027	687.5+/-404.9	223,933,1047	98	78	85		1950,1917,1710,1950	1.2	1	21	dbSNP_100	85	1740,6860	735.0+/-406.9	167,1406,2727	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	,,,	390,2339,3774	GG,GA,AA		20.2326,31.2982,23.9812	,,,	650/733,639/722,570/653,650/733	47614443	3119,9887	2203	4300	6503	SO:0001819	synonymous_variant	4047	exon20			TGTGTTATGGATC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1950T>C	21.37:g.47614443A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_001001438	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	CCDS13733.1	703	0.3218864468864469	126	0.25609756097560976	76	0.20994475138121546	347	0.6066433566433567	154	0.20316622691292877	G	5.699	0.313580	0.10789	0.312982	0.202326	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0859	0.36581	0.3764:0.0:0.6236:0.0	rs2254522;rs2254522	.	.	.	Q	18	.	.	X	-	1	0	LSS	46438871	1.000000	0.71417	0.967000	0.41034	0.432000	0.31715	2.487000	0.45268	-0.190000	0.10465	-0.726000	0.03593	TAA	A|0.712;C|0.002	.	strong		0.622	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			G	47614443	A	G	47614443	2	3	22	1	0	0	0	0	0	0	0	1	9065	446	16	2		2	LSS	21	47614443	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26078	47614443	515452	10797	15905										
PCNT	5116	hgsc.bcm.edu	37	chr21	47754471	47754471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccacccaccagaacagcGtgggatgttcacagtcagtg	11	12	2	2	rs58106867	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47754471G>A	ENST00000359568.5	+	3	535	c.428G>A	c.(427-429)cGt>cAt	p.R143H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	143					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCAGAACAGCGTGGGATGTTC	0.542																																					p.R143H		Atlas-SNP	.											PCNT,caecum,adenoma,0,1	PCNT	283	1	0			c.G428A						scavenged	.						183	119	141					21																	47754471		2203	4300	6503	SO:0001583	missense	5116	exon3			AACAGCGTGGGAT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.428G>A	21.37:g.47754471G>A	ENSP00000352572:p.Arg143His	Somatic	283	2	0.00706714		WXS	Illumina HiSeq	Phase_I	323	11	0.0340557	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	g	6.506	0.461555	0.12342	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01430	4.9	0.428	-0.857	0.10693	.	.	.	.	.	T	0.00815	0.0027	N	0.20986	0.625	0.21473	N	0.999673	D;D	0.59357	0.985;0.975	B;B	0.32724	0.151;0.072	T	0.50923	-0.8770	8	0.40728	T	0.16	.	.	.	.	rs58106867	25;143	O95613-2;O95613	.;PCNT_HUMAN	H	143	ENSP00000352572:R143H	ENSP00000338675:R143H	R	+	2	0	PCNT	46578899	0.031000	0.19500	0.029000	0.17559	0.020000	0.10135	-2.283000	0.01155	-0.638000	0.05509	0.205000	0.17691	CGT	G|0.991;A|0.010	0.010	strong		0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47754471	G	A	47754471	3	1	22	1	0	0	0	0	1	0	0	0	11590	1145	40	1	438	1	PCNT	21	47754471	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	140028	47754471	375424	10798	15906										
PCNT	5116	hgsc.bcm.edu	37	chr21	47754541	47754541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtcagtgaccacccaccAgaacagcgtgggatgttcac	10	13	2	2	rs61735824	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47754541A>G	ENST00000359568.5	+	3	605	c.498A>G	c.(496-498)ccA>ccG	p.P166P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	166					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.547													a|||	127	0.0253594	0.0295	0.0403	5008	,	,		21418	0.0		0.0408	False		,,,				2504	0.0194				p.P166P		Atlas-SNP	.											.	PCNT	283	.	0			c.A498G						PASS	.	A		153,4253	104.7+/-143.2	0,153,2050	199	128	152		498	-0.5	0	21	dbSNP_129	152	477,8123	140.0+/-196.6	15,447,3838	yes	coding-synonymous	PCNT	NM_006031.5		15,600,5888	GG,GA,AA		5.5465,3.4725,4.8439		166/3337	47754541	630,12376	2203	4300	6503	SO:0001819	synonymous_variant	5116	exon3			CCCACCAGAACAG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.498A>G	21.37:g.47754541A>G		Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	334	111	0.332335	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			A|0.956;G|0.044	0.044	strong		0.547	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47754541	A	G	47754541	2	3	22	1	0	0	0	0	0	0	0	1	11590	175	7	3		3	PCNT	21	47754541	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	70	47754541	375354	10799	15907										
PCNT	5116	hgsc.bcm.edu	37	chr21	47754576	47754576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttcacaatcagtgaccaccAaccggaacagcgtgggatgt	11	11	2	1	rs200285580		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47754576A>C	ENST00000359568.5	+	3	640	c.533A>C	c.(532-534)cAa>cCa	p.Q178P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	178					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGACCACCAACCGGAACAG	0.537																																					p.Q178P		Atlas-SNP	.											.	PCNT	283	.	0			c.A533C						PASS	.						205	139	161					21																	47754576		2203	4300	6503	SO:0001583	missense	5116	exon3			ACCACCAACCGGA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.533A>C	21.37:g.47754576A>C	ENSP00000352572:p.Gln178Pro	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	333	48	0.144144	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	3.018	-0.202461	0.06219	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01258	5.09	0.235	0.235	0.15431	.	.	.	.	.	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.13407	0.009;0.004	T	0.47849	-0.9085	8	0.30854	T	0.27	.	.	.	.	.	60;178	O95613-2;O95613	.;PCNT_HUMAN	P	178;165	ENSP00000352572:Q178P	ENSP00000338675:Q165P	Q	+	2	0	PCNT	46579004	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.630000	0.00871	0.263000	0.21812	0.260000	0.18958	CAA	A|0.999;G|0.001	.	alt		0.537	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47754576	A	C	47754576	3	2	22	1	0	0	0	0	1	0	0	0	11590	130	5	5	543	5	PCNT	21	47754576	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35	47754576	375319	10800	15908										
PCNT	5116	hgsc.bcm.edu	37	chr21	47766113	47766113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagatgaggctggcctgcaTcagagtcaggtgacccggcg	16	10	2	4	rs34500739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47766113T>G	ENST00000359568.5	+	4	818	c.711T>G	c.(709-711)caT>caG	p.H237Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	237	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGGCCTGCATCAGAGTCAGG	0.602													G|||	128	0.0255591	0.028	0.0303	5008	,	,		16755	0.001		0.0646	False		,,,				2504	0.0041				p.H237Q		Atlas-SNP	.											.	PCNT	283	.	0			c.T711G						PASS	.	G	GLN/HIS	192,4214	807.9+/-415.9	5,182,2016	83	74	77		711	3.3	1	21	dbSNP_126	77	528,8072	795.4+/-407.5	11,506,3783	yes	missense	PCNT	NM_006031.5	24	16,688,5799	GG,GT,TT		6.1395,4.3577,5.5359	benign	237/3337	47766113	720,12286	2203	4300	6503	SO:0001583	missense	5116	exon4			CCTGCATCAGAGT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.711T>G	21.37:g.47766113T>G	ENSP00000352572:p.His237Gln	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	129	71	0.550388	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	92	0.04212454212454213	21	0.042682926829268296	16	0.04419889502762431	1	0.0017482517482517483	54	0.0712401055408971	G	2.436	-0.329782	0.05314	0.043577	0.061395	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01279	5.06	3.27	3.27	0.37495	.	.	.	.	.	T	0.00073	0.0002	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45145	-0.9281	9	0.09084	T	0.74	.	8.0049	0.30319	0.0:0.0:0.7564:0.2436	rs34500739	119;237	O95613-2;O95613	.;PCNT_HUMAN	Q	237;224	ENSP00000352572:H237Q	ENSP00000338675:H224Q	H	+	3	2	PCNT	46590541	0.057000	0.20700	0.965000	0.40720	0.171000	0.22731	0.660000	0.25009	0.988000	0.38734	-0.648000	0.03929	CAT	T|0.949;G|0.051	0.051	strong		0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47766113	T	G	47766113	3	3	22	1	0	0	0	0	1	0	0	0	11590	1432	50	5	725	5	PCNT	21	47766113	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11537	47766113	363782	10801	15909										
PCNT	5116	hgsc.bcm.edu	37	chr21	47863757	47863757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccgcagtctccacccagAaccagagagtcccccccaac	7	20	1	2	rs2073380	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47863757A>C	ENST00000359568.5	+	45	9842	c.9735A>C	c.(9733-9735)agA>agC	p.R3245S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3245	Interaction with NEK2.		R -> S (in dbSNP:rs2073380).		brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCCACCCAGAACCAGAGAGT	0.582													A|||	1033	0.20627	0.056	0.1354	5008	,	,		14631	0.4117		0.2157	False		,,,				2504	0.2382				p.R3245S		Atlas-SNP	.											.	PCNT	283	.	0			c.A9735C						PASS	.	A	SER/ARG	356,4050	179.0+/-207.6	16,324,1863	56	67	63		9735	-3	0	21	dbSNP_96	63	1849,6751	321.6+/-315.2	193,1463,2644	yes	missense	PCNT	NM_006031.5	110	209,1787,4507	CC,CA,AA		21.5,8.0799,16.9537	benign	3245/3337	47863757	2205,10801	2203	4300	6503	SO:0001583	missense	5116	exon45			ACCCAGAACCAGA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9735A>C	21.37:g.47863757A>C	ENSP00000352572:p.Arg3245Ser	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	98	43	0.438776	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	513	0.2348901098901099	31	0.06300813008130081	60	0.16574585635359115	257	0.4493006993006993	165	0.21767810026385223	A	6.196	0.404264	0.11754	0.080799	0.215	ENSG00000160299	ENST00000359568	T	0.01414	4.92	5.0	-2.95	0.05564	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.14438	0.006;0.01	B;B	0.13407	0.009;0.004	T	0.35574	-0.9783	8	0.08381	T	0.77	.	1.0943	0.01670	0.2612:0.3348:0.2529:0.1511	rs2073380;rs52807129;rs2073380	3048;3245	O95613-2;O95613	.;PCNT_HUMAN	S	3245	ENSP00000352572:R3245S	ENSP00000352572:R3245S	R	+	3	2	PCNT	46688185	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.016000	0.12613	-0.225000	0.09913	0.533000	0.62120	AGA	A|0.810;C|0.190	0.190	strong		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47863757	A	C	47863757	3	2	22	1	0	0	0	0	1	0	0	0	11590	243	9	5	9913	5	PCNT	21	47863757	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	97644	47863757	266138	10802	15910										
DIP2A	23181	hgsc.bcm.edu	37	chr21	47910523	47910523	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgtttcaggaatagacccAtctctgcaagcagagaatag	10	8	2	2	rs7279002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47910523A>G	ENST00000417564.2	+	3	195	c.174A>G	c.(172-174)ccA>ccG	p.P58P	DIP2A_ENST00000400274.1_Silent_p.P58P|DIP2A_ENST00000466639.1_Silent_p.P58P|DIP2A_ENST00000435722.3_Silent_p.P58P|DIP2A_ENST00000457905.3_Silent_p.P58P|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000318711.7_Silent_p.P58P			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	58	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GAATAGACCCATCTCTGCAAG	0.463													A|||	1797	0.358826	0.5053	0.1988	5008	,	,		19194	0.4067		0.2545	False		,,,				2504	0.3323				p.P58P		Atlas-SNP	.											.	DIP2A	332	.	0			c.A174G						PASS	.	A	,,,,,,	1640,2134		358,924,605	37	39	38		,174,174,174,174,174,174	-10.3	0	21	dbSNP_116	38	1911,6281		243,1425,2428	no	intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	,,,,,,	601,2349,3033	GG,GA,AA		23.3276,43.4552,29.6757	,,,,,,	,58/799,58/1568,58/1572,58/890,58/842,58/813	47910523	3551,8415	1887	4096	5983	SO:0001819	synonymous_variant	23181	exon3			AGACCCATCTCTG	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.174A>G	21.37:g.47910523A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	161	75	0.465839	NM_206891	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																			A|0.634;G|0.366	0.366	strong		0.463	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		G	47910523	A	G	47910523	2	3	22	1	0	0	0	0	0	0	0	1	4527	204	8	2		2	DIP2A	21	47910523	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	46766	47910523	219372	10803	15911										
DIP2A	23181	hgsc.bcm.edu	37	chr21	47985655	47985655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcccccacaatgccacCgggtactacaccgtttacgg	9	16	0	0	rs2248636	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr21:47985655C>T	ENST00000417564.2	+	36	4215	c.4194C>T	c.(4192-4194)acC>acT	p.T1398T	DIP2A_ENST00000318711.7_Silent_p.T1399T|DIP2A_ENST00000400274.1_Silent_p.T1394T|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1398					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACAATGCCACCGGGTACTACA	0.572													C|||	601	0.120008	0.0363	0.0634	5008	,	,		16886	0.3254		0.0815	False		,,,				2504	0.1012				p.T1398T		Atlas-SNP	.											.	DIP2A	332	.	0			c.C4194T						PASS	.	C	,	198,3842		7,184,1829	45	47	46		4182,4194	-10.9	0.4	21	dbSNP_100	46	565,7805		16,533,3636	no	coding-synonymous,coding-synonymous	DIP2A	NM_001146116.1,NM_015151.3	,	23,717,5465	TT,TC,CC		6.7503,4.901,6.1483	,	1394/1568,1398/1572	47985655	763,11647	2020	4185	6205	SO:0001819	synonymous_variant	23181	exon36			TGCCACCGGGTAC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4194C>T	21.37:g.47985655C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	137	74	0.540146	NM_015151	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																			C|0.861;T|0.139	0.139	strong		0.572	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47985655	C	T	47985655	2	4	22	1	0	0	0	0	0	0	0	1	4527	639	23	1		1	DIP2A	21	47985655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	75132	47985655	144240	10804	15912										
CCT8L2	150160	hgsc.bcm.edu	37	chr22	17071899	17071899	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatttcatctacagtcacGagctgtagcaccacctcagc	7	14	4	0	rs547801677	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17071899G>A	ENST00000359963.3	-	1	1801	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	514					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTACAGTCACGAGCTGTAGCA	0.498													g|||	3	0.000599042	0.0	0.0	5008	,	,		18283	0.003		0.0	False		,,,				2504	0.0				p.L514L		Atlas-SNP	.											CCT8L2,NS,carcinoma,-2,2	CCT8L2	150	2	0			c.C1542T						PASS	.						103	96	98					22																	17071899		2203	4298	6501	SO:0001819	synonymous_variant	150160	exon1			AGTCACGAGCTGT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1542C>T	22.37:g.17071899G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	173	94	0.543353	NM_014406	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	CCDS13738.1																																																																																			.	.	none		0.498	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17071899	G	A	17071899	2	1	22	1	0	0	0	0	0	0	0	1	2961	1045	37	1		1	CCT8L2	22	17071899	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10		17071899	34232667	10805	15913										
CCT8L2	150160	hgsc.bcm.edu	37	chr22	17072347	17072347	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggtgtgcctgtacattccCattcaaataccacagccaaa	6	13	1	0	rs139948519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17072347C>T	ENST00000359963.3	-	1	1353	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	365					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGTACATTCCCATTCAAATAC	0.612													c|||	113	0.0225639	0.0598	0.0029	5008	,	,		18689	0.0		0.002	False		,,,				2504	0.0307				p.W365X		Atlas-SNP	.											.	CCT8L2	150	.	0			c.G1094A						PASS	.	C	stop/TRP	301,4105	164.7+/-196.3	7,287,1909	88	83	85		1094	2	0.2	22	dbSNP_134	85	28,8572	19.2+/-60.6	0,28,4272	no	stop-gained	CCT8L2	NM_014406.4		7,315,6181	TT,TC,CC		0.3256,6.8316,2.5296		365/558	17072347	329,12677	2203	4300	6503	SO:0001587	stop_gained	150160	exon1			CATTCCCATTCAA	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1094G>A	22.37:g.17072347C>T	ENSP00000353048:p.Trp365*	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	53	29	0.54717	NM_014406	A4QPH3|Q9UJS3	Nonsense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	29	0.013278388278388278	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	c	18.96	3.734449	0.69189	0.068316	0.003256	ENSG00000198445	ENST00000359963	.	.	.	1.98	1.98	0.26296	.	0.261754	0.21132	U	0.079635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-8.0904	7.4423	0.27190	0.0:1.0:0.0:0.0	.	.	.	.	X	365	.	ENSP00000353048:W365X	W	-	2	0	CCT8L2	15452347	0.722000	0.28017	0.224000	0.23877	0.129000	0.20672	1.546000	0.36179	1.115000	0.41800	0.379000	0.24179	TGG	C|0.982;T|0.018	0.018	strong		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072347	C	T	17072347	4	4	22	1	0	0	0	0	0	1	0	0	2961	595	21	2	583	2	CCT8L2	22	17072347	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	448	17072347	34232219	10806	15914										
XKR3	150165	hgsc.bcm.edu	37	chr22	17280822	17280822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatctccctttccagcatcGtgtttctctttgtgatgcta	6	12	2	1	rs5748648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17280822G>A	ENST00000331428.5	-	3	530	c.428C>T	c.(427-429)aCg>aTg	p.T143M		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTCCAGCATCGTGTTTCTCTT	0.403													.|||	715	0.142772	0.2458	0.121	5008	,	,		18015	0.0952		0.0656	False		,,,				2504	0.1472				p.T143M		Atlas-SNP	.											.	XKR3	51	.	0			c.C428T						PASS	.	G	MET/THR	742,3042		77,588,1227	224	201	208		428	-1.5	0	22	dbSNP_114	208	470,7794		17,436,3679	yes	missense	XKR3	NM_175878.3	81	94,1024,4906	AA,AG,GG		5.6873,19.6089,10.0598	probably-damaging	143/460	17280822	1212,10836	1892	4132	6024	SO:0001583	missense	150165	exon3			AGCATCGTGTTTC	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.428C>T	22.37:g.17280822G>A	ENSP00000331704:p.Thr143Met	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	340	159	0.467647	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	264	0.12087912087912088	112	0.22764227642276422	42	0.11602209944751381	59	0.10314685314685315	51	0.06728232189973615	.	6.601	0.479201	0.12581	0.196089	0.056873	ENSG00000172967	ENST00000331428	T	0.59906	0.23	0.762	-1.52	0.08637	.	2.055320	0.04189	N	0.327994	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.17268	0.021	B	0.06405	0.002	T	0.04153	-1.0973	9	0.40728	T	0.16	.	2.1147	0.03711	0.3174:0.0:0.2134:0.4692	rs5748648;rs52798570;rs58098509;rs5748648	143	Q5GH77	XKR3_HUMAN	M	143	ENSP00000331704:T143M	ENSP00000331704:T143M	T	-	2	0	XKR3	15660822	0.988000	0.35896	0.001000	0.08648	0.016000	0.09150	0.275000	0.18698	-1.384000	0.02103	-1.082000	0.02213	ACG	G|0.881;A|0.119	0.119	strong		0.403	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		A	17280822	G	A	17280822	3	1	22	1	0	0	0	0	1	0	0	0	17429	1145	40	1	959	1	XKR3	22	17280822	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	208475	17280822	34023744	10807	15915										
XKR3	150165	hgsc.bcm.edu	37	chr22	17288849	17288849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagtagagaacagttgagaAgataatgctaaaaggaaagc	11	4	0	3	rs150400922	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17288849A>G	ENST00000331428.5	-	2	217	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAGTTGAGAAGATAATGCTA	0.388													.|||	22	0.00439297	0.0159	0.0014	5008	,	,		19510	0.0		0.0	False		,,,				2504	0.0				p.F39L		Atlas-SNP	.											.	XKR3	51	.	0			c.T115C						PASS	.	A	LEU/PHE	71,3691		0,71,1810	115	110	112		115	0.5	0	22	dbSNP_134	112	0,8218		0,0,4109	yes	missense	XKR3	NM_175878.3	22	0,71,5919	GG,GA,AA		0.0,1.8873,0.5927	benign	39/460	17288849	71,11909	1881	4109	5990	SO:0001583	missense	150165	exon2			TTGAGAAGATAAT	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.115T>C	22.37:g.17288849A>G	ENSP00000331704:p.Phe39Leu	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	209	94	0.449761	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	.	4.134	0.023117	0.08006	0.018873	0.0	ENSG00000172967	ENST00000331428	T	0.61859	0.07	0.539	0.539	0.17156	.	0.396682	0.23023	U	0.052823	T	0.17577	0.0422	N	0.22421	0.69	0.19775	N	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.04090	-1.0978	10	0.13853	T	0.58	.	2.6787	0.05087	0.5696:1.0E-4:0.0:0.4304	.	39	Q5GH77	XKR3_HUMAN	L	39	ENSP00000331704:F39L	ENSP00000331704:F39L	F	-	1	0	XKR3	15668849	0.930000	0.31532	0.021000	0.16686	0.010000	0.07245	0.129000	0.15830	0.485000	0.27652	0.246000	0.17985	TTC	A|0.996;G|0.004	0.004	strong		0.388	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		G	17288849	A	G	17288849	3	3	22	1	0	0	0	0	1	0	0	0	17429	72	3	3	1276	3	XKR3	22	17288849	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	8027	17288849	34015717	10808	15916										
GAB4	128954	hgsc.bcm.edu	37	chr22	17445710	17445710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgtgttggtgatgctctgCgtggagatggggtgttggga	19	4	2	2	rs5992599	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17445710C>T	ENST00000400588.1	-	8	1529	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	474										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGATGCTCTGCGTGGAGATGG	0.572													C|||	202	0.0403355	0.1498	0.0058	5008	,	,		19710	0.0		0.0	False		,,,				2504	0.0				p.T474T		Atlas-SNP	.											.	GAB4	95	.	0			c.G1422A						PASS	.	C		504,3876	213.5+/-233.1	31,442,1717	151	162	158		1422	-3.9	0.3	22	dbSNP_114	158	2,8580	2.2+/-6.3	0,2,4289	no	coding-synonymous	GAB4	NM_001037814.1		31,444,6006	TT,TC,CC		0.0233,11.5068,3.9037		474/575	17445710	506,12456	2190	4291	6481	SO:0001819	synonymous_variant	128954	exon8			GCTCTGCGTGGAG	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1422G>A	22.37:g.17445710C>T		Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	259	127	0.490348	NM_001037814		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																			C|0.954;T|0.046	0.046	strong		0.572	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17445710	C	T	17445710	2	4	22	1	0	0	0	0	0	0	0	1	6151	755	27	1		1	GAB4	22	17445710	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	156861	17445710	33858856	10809	15917										
GAB4	128954	hgsc.bcm.edu	37	chr22	17447237	17447237	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcaatgctgtctgacaggccCacaagcgttcttcctggcta	10	13	2	1	rs115898475	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17447237C>G	ENST00000400588.1	-	6	1148	c.1041G>C	c.(1039-1041)gtG>gtC	p.V347V	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	347										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTGACAGGCCCACAAGCGTTC	0.527													C|||	31	0.0061901	0.0227	0.0014	5008	,	,		21894	0.0		0.0	False		,,,				2504	0.0				p.V347V		Atlas-SNP	.											.	GAB4	95	.	0			c.G1041C						PASS	.	C		72,3902		0,72,1915	26	28	28		1041	1.7	0.2	22	dbSNP_132	28	0,8384		0,0,4192	no	coding-synonymous	GAB4	NM_001037814.1		0,72,6107	GG,GC,CC		0.0,1.8118,0.5826		347/575	17447237	72,12286	1987	4192	6179	SO:0001819	synonymous_variant	128954	exon6			CAGGCCCACAAGC	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1041G>C	22.37:g.17447237C>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	55	33	0.6	NM_001037814		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																			C|0.994;G|0.006	0.006	strong		0.527	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		G	17447237	C	G	17447237	2	3	22	1	0	0	0	0	0	0	0	1	6151	581	21	4		4	GAB4	22	17447237	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1527	17447237	33857329	10810	15918										
GAB4	128954	hgsc.bcm.edu	37	chr22	17472785	17472785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctttcctcctgcctgaaGccacagatctgacagatgct	9	13	1	4	rs116325774	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17472785G>A	ENST00000400588.1	-	2	563	c.456C>T	c.(454-456)ggC>ggT	p.G152G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	152	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTGCCTGAAGCCACAGATCT	0.547													G|||	30	0.00599042	0.0227	0.0	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0				p.G152G		Atlas-SNP	.											GAB4,NS,carcinoma,-1,1	GAB4	95	1	0			c.C456T						scavenged	.	G		60,4346	55.5+/-91.7	1,58,2144	241	243	242		456	1.8	1	22	dbSNP_132	242	0,8600		0,0,4300	no	coding-synonymous	GAB4	NM_001037814.1		1,58,6444	AA,AG,GG		0.0,1.3618,0.4613		152/575	17472785	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	128954	exon2			CCTGAAGCCACAG	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.456C>T	22.37:g.17472785G>A		Somatic	272	2	0.00735294		WXS	Illumina HiSeq	Phase_I	284	136	0.478873	NM_001037814		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																			G|0.994;A|0.006	0.006	strong		0.547	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		A	17472785	G	A	17472785	2	1	22	1	0	0	0	0	0	0	0	1	6151	958	34	2		2	GAB4	22	17472785	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25548	17472785	33831781	10811	15919										
IL17RA	23765	hgsc.bcm.edu	37	chr22	17589983	17589983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagcgggcgcccctggtgcGcgagcctggctcccaggcct	16	16	0	0	rs189025188		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17589983G>A	ENST00000319363.6	+	13	2007	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	625					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCTGGTGCGCGAGCCTGGC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13392	0.0		0.0	False		,,,				2504	0.0				p.R625H		Atlas-SNP	.											.	IL17RA	62	.	0			c.G1874A						PASS	.	G	HIS/ARG	1,4309		0,1,2154	7	6	6		1874	-4.2	0	22		6	0,8498		0,0,4249	no	missense	IL17RA	NM_014339.5	29	0,1,6403	AA,AG,GG		0.0,0.0232,0.0078	benign	625/867	17589983	1,12807	2155	4249	6404	SO:0001583	missense	23765	exon13			TGGTGCGCGAGCC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1874G>A	22.37:g.17589983G>A	ENSP00000320936:p.Arg625His	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	16	12	0.75	NM_014339	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.477	0.647869	0.14516	2.32E-4	0.0	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.07800	3.16	5.1	-4.19	0.03835	.	0.588863	0.17907	N	0.157988	T	0.04363	0.0120	N	0.21583	0.68	0.09310	N	1	B;B	0.17038	0.01;0.02	B;B	0.10450	0.002;0.005	T	0.31475	-0.9942	10	0.37606	T	0.19	-15.8275	7.1335	0.25515	0.4871:0.0:0.4036:0.1092	.	573;625	D3YTB4;Q96F46	.;I17RA_HUMAN	H	573;625	ENSP00000320936:R625H	ENSP00000320936:R625H	R	+	2	0	IL17RA	15969983	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	-0.188000	0.09642	-0.559000	0.06110	-0.254000	0.11334	CGC	G|0.999;A|0.001	0.001	strong		0.677	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17589983	G	A	17589983	3	1	22	1	0	0	0	0	1	0	0	0	7639	1087	38	1	1924	1	IL17RA	22	17589983	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	117198	17589983	33714583	10812	15920										
CECR6	27439	hgsc.bcm.edu	37	chr22	17600977	17600977	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacggaagcccgtggtgccGaagggcgcgcgtagctcgat	17	11	0	1	rs5994165	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:17600977G>A	ENST00000331437.3	-	1	1166	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_5'UTR	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	347										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGTGGTGCCGAAGGGCGCGC	0.667													g|||	2388	0.476837	0.4856	0.5101	5008	,	,		12678	0.495		0.3847	False		,,,				2504	0.5174				p.F347F		Atlas-SNP	.											.	CECR6	11	.	0			c.C1041T						PASS	.		,	2078,2324		511,1056,634	57	44	49		,1041	-2.8	1	22	dbSNP_114	49	3195,5397		588,2019,1689	no	utr-5,coding-synonymous	CECR6	NM_001163079.1,NM_031890.3	,	1099,3075,2323	AA,AG,GG		37.1858,47.2058,40.5803	,	,347/579	17600977	5273,7721	2201	4296	6497	SO:0001819	synonymous_variant	27439	exon1			GGTGCCGAAGGGC	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1041C>T	22.37:g.17600977G>A		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_031890	A8MYY1	Silent	SNP	ENST00000331437.3	37	CCDS13740.1																																																																																			G|0.559;A|0.441	0.441	strong		0.667	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		A	17600977	G	A	17600977	2	1	22	1	0	0	0	0	0	0	0	1	3208	1049	37	1		1	CECR6	22	17600977	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10994	17600977	33703589	10813	15921										
MICAL3	57553	hgsc.bcm.edu	37	chr22	18354766	18354766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgctgcctcccaggttctgCgggaactccttcttcatgga	10	14	3	0	rs9617630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:18354766C>T	ENST00000441493.2	-	17	2617	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P	MICAL3_ENST00000400561.2_Silent_p.P755P|MICAL3_ENST00000585038.1_Silent_p.P879P|MICAL3_ENST00000444520.1_Silent_p.P755P|MICAL3_ENST00000429452.1_Silent_p.P879P|MICAL3_ENST00000207726.7_Silent_p.P783P|MICAL3_ENST00000383094.3_Silent_p.P755P|MICAL3_ENST00000414725.2_Silent_p.P783P	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	755					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCAGGTTCTGCGGGAACTCCT	0.627													c|||	897	0.179113	0.1785	0.2666	5008	,	,		20227	0.2014		0.0954	False		,,,				2504	0.181				p.P879P		Atlas-SNP	.											.	MICAL3	53	.	0			c.G2637A						PASS	.		,,	563,2573		57,449,1062	37	35	36		2265,2637,2265	-11.4	0.1	22	dbSNP_119	36	591,6569		19,553,3008	no	coding-synonymous,coding-synonymous,coding-synonymous	MICAL3	NM_001122731.1,NM_001136004.1,NM_015241.2	,,	76,1002,4070	TT,TC,CC		8.2542,17.9528,11.2082	,,	755/967,879/1074,755/2003	18354766	1154,9142	1568	3580	5148	SO:0001819	synonymous_variant	57553	exon21			GTTCTGCGGGAAC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2265G>A	22.37:g.18354766C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	95	46	0.484211	NM_001136004	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																			C|0.852;T|0.148	0.148	strong		0.627	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18354766	C	T	18354766	2	4	22	1	0	0	0	0	0	0	0	1	9571	755	27	1		1	MICAL3	22	18354766	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	753789	18354766	32949800	10814	15922										
USP18	11274	hgsc.bcm.edu	37	chr22	18644597	18644597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgacgagcagaggagaagcGtccctttccagatgcttctg	12	11	1	4	rs143481018		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:18644597G>A	ENST00000215794.7	+	4	725	c.295G>A	c.(295-297)Gtc>Atc	p.V99I		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	99	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GAGGAGAAGCGTCCCTTTCCA	0.577																																					p.V99I		Atlas-SNP	.											.	USP18	22	.	0			c.G295A						PASS	.						23	20	21					22																	18644597		2202	4295	6497	SO:0001583	missense	11274	exon4			AGAAGCGTCCCTT	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.295G>A	22.37:g.18644597G>A	ENSP00000215794:p.Val99Ile	Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	439	127	0.289294	NM_017414	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	16.12	3.034318	0.54896	.	.	ENSG00000184979	ENST00000215794	T	0.32023	1.47	5.57	2.19	0.27852	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.490245	0.22485	N	0.059456	T	0.24967	0.0606	N	0.26042	0.785	0.24638	N	0.993584	D	0.69078	0.997	P	0.57548	0.823	T	0.12863	-1.0531	10	0.08837	T	0.75	.	3.4873	0.07625	0.0914:0.1718:0.559:0.1778	.	99	Q9UMW8	UBP18_HUMAN	I	99	ENSP00000215794:V99I	ENSP00000215794:V99I	V	+	1	0	USP18	17024597	0.992000	0.36948	0.971000	0.41717	0.704000	0.40688	1.496000	0.35638	0.640000	0.30582	0.650000	0.86243	GTC	.	.	weak		0.577	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			A	18644597	G	A	18644597	3	1	22	1	0	0	0	0	1	0	0	0	17046	1145	40	1	305	1	USP18	22	18644597	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	289831	18644597	32659969	10815	15923										
TSSK2	23617	hgsc.bcm.edu	37	chr22	19118992	19118992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttcctacgcaaaagtcaAatctgcctactctgagcgcc	9	13	3	1	rs3747052	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19118992A>G	ENST00000399635.2	+	1	672	c.80A>G	c.(79-81)aAa>aGa	p.K27R	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> R (may be associated with infertility; dbSNP:rs3747052). {ECO:0000269|PubMed:17344846}.		multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAAAGTCAAATCTGCCTAC	0.517													.|||	196	0.0391374	0.1165	0.0144	5008	,	,		22180	0.0198		0.008	False		,,,				2504	0.0041				p.K27R		Atlas-SNP	.											.	TSSK2	29	.	0			c.A80G						PASS	.	A	,ARG/LYS	482,3924	225.9+/-241.6	25,432,1746	82	70	74		,80	4.6	1	22	dbSNP_107	74	5,8595	3.7+/-12.6	0,5,4295	yes	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,26	25,437,6041	GG,GA,AA		0.0581,10.9396,3.7444	,benign	,27/359	19118992	487,12519	2203	4300	6503	SO:0001583	missense	23617	exon1			AAGTCAAATCTGC	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.80A>G	22.37:g.19118992A>G	ENSP00000382544:p.Lys27Arg	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	95	60	0.631579	NM_053006	Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	CCDS13755.1	89	0.04075091575091575	63	0.12804878048780488	6	0.016574585635359115	13	0.022727272727272728	7	0.009234828496042216	A	16.33	3.091896	0.55968	0.109396	5.81E-4	ENSG00000206203	ENST00000399635	D	0.82619	-1.63	5.62	4.56	0.56223	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	0.53938	D	0.000060	T	0.02727	0.0082	N	0.13327	0.33	0.32898	D	0.51277	B	0.23185	0.081	B	0.42882	0.401	T	0.58446	-0.7635	10	0.72032	D	0.01	.	9.692	0.40134	0.845:0.0:0.0:0.155	rs3747052;rs3747052	27	Q96PF2	TSSK2_HUMAN	R	27	ENSP00000382544:K27R	ENSP00000382544:K27R	K	+	2	0	TSSK2	17498992	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	5.829000	0.69316	0.912000	0.36772	0.460000	0.39030	AAA	A|0.959;G|0.041	0.041	strong		0.517	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			G	19118992	A	G	19118992	3	3	22	1	0	0	0	0	1	0	0	0	16666	14	1	2	82	2	TSSK2	22	19118992	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	474395	19118992	32185574	10816	15924										
DGCR14	8220	hgsc.bcm.edu	37	chr22	19121872	19121872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcttgaggtgggtggagcgtGctggggatggtgtgtagctg	21	4	1	1	rs712965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19121872G>A	ENST00000252137.6	-	10	1311	c.1268C>T	c.(1267-1269)gCa>gTa	p.A423V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	423			A -> V (in dbSNP:rs712965). {ECO:0000269|PubMed:9063747}.		mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGTGGAGCGTGCTGGGGATGG	0.687													G|||	515	0.102835	0.1694	0.0865	5008	,	,		15034	0.1062		0.0547	False		,,,				2504	0.0706				p.A423V		Atlas-SNP	.											.	DGCR14	43	.	0			c.C1268T						PASS	.	G	VAL/ALA	736,3670	299.8+/-286.0	62,612,1529	78	71	74		1268	3.2	1	22	dbSNP_86	74	493,8107	141.4+/-197.7	18,457,3825	yes	missense	DGCR14	NM_022719.2	64	80,1069,5354	AA,AG,GG		5.7326,16.7045,9.4495	benign	423/477	19121872	1229,11777	2203	4300	6503	SO:0001583	missense	8220	exon10			GAGCGTGCTGGGG	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1268C>T	22.37:g.19121872G>A	ENSP00000252137:p.Ala423Val	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	351	165	0.470085	NM_022719	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	CCDS13756.1	199	0.09111721611721611	67	0.13617886178861788	35	0.09668508287292818	59	0.10314685314685315	38	0.05013192612137203	G	13.24	2.178402	0.38511	0.167045	0.057326	ENSG00000100056	ENST00000252137	T	0.24151	1.87	4.32	3.23	0.37069	.	0.278460	0.33496	N	0.004843	T	0.00039	0.0001	L	0.27053	0.805	0.38802	D	0.955227	B	0.09022	0.002	B	0.09377	0.004	T	0.33292	-0.9874	10	0.25106	T	0.35	-14.0916	12.4077	0.55449	0.0988:0.0:0.9011:0.0	rs712965;rs59275056;rs712965	423	Q96DF8	DGC14_HUMAN	V	423	ENSP00000252137:A423V	ENSP00000252137:A423V	A	-	2	0	DGCR14	17501872	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.499000	0.60380	2.241000	0.73720	0.484000	0.47621	GCA	G|0.894;T|0.002	.	strong		0.687	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			A	19121872	G	A	19121872	3	1	22	1	0	0	0	0	1	0	0	0	4460	1319	46	2	166	2	DGCR14	22	19121872	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2880	19121872	32182694	10817	15925										
CLTCL1	8218	hgsc.bcm.edu	37	chr22	19178854	19178854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtccaggtgtggtccagccGgggtgaaagcaccagcagca	15	11	0	1	rs190366603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19178854G>A	ENST00000263200.10	-	27	4357	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1429	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGTCCAGCCGGGGTGAAAGC	0.493			T	?	ALCL								G|||	3	0.000599042	0.0023	0.0	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0				p.R1429W		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	CLTCL1,NS,carcinoma,0,1	CLTCL1	115	1	0			c.C4285T						PASS	.	G	TRP/ARG,TRP/ARG	5,3907		0,5,1951	80	84	83		4285,4285	3.6	1	22		83	0,8286		0,0,4143	yes	missense,missense	CLTCL1	NM_007098.3,NM_001835.3	101,101	0,5,6094	AA,AG,GG		0.0,0.1278,0.041	benign,benign	1429/1641,1429/1584	19178854	5,12193	1956	4143	6099	SO:0001583	missense	8218	exon27			CCAGCCGGGGTGA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4285C>T	22.37:g.19178854G>A	ENSP00000445677:p.Arg1429Trp	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	88	51	0.579545	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.39	3.613700	0.66672	0.001278	0.0	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20332	2.08;2.08;2.08	3.61	3.61	0.41365	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.40956	0.1138	M	0.92649	3.33	0.80722	D	1	B;B;B	0.33171	0.4;0.318;0.266	B;B;B	0.39217	0.283;0.256;0.294	T	0.57888	-0.7733	10	0.87932	D	0	-17.9135	15.4348	0.75137	0.0:0.0:1.0:0.0	.	1429;252;1429	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	W	1429	ENSP00000439662:R1429W;ENSP00000445677:R1429W;ENSP00000441158:R1429W	ENSP00000445677:R1429W	R	-	1	2	CLTCL1	17558854	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	2.973000	0.49264	1.868000	0.54150	0.585000	0.79938	CGG	G|0.999;A|0.001	0.001	strong		0.493	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19178854	G	A	19178854	3	1	22	1	0	0	0	0	1	0	0	0	3567	1115	39	1	661	1	CLTCL1	22	19178854	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	56982	19178854	32125712	10818	15926										
CLTCL1	8218	hgsc.bcm.edu	37	chr22	19196449	19196449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgctcctgctggctgacTgaacaacttccaggtaagag	10	11	0	3	rs182543131	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19196449T>C	ENST00000263200.10	-	21	3497	c.3425A>G	c.(3424-3426)cAg>cGg	p.Q1142R	CLTCL1_ENST00000353891.5_Missense_Mutation_p.Q1142R|CLTCL1_ENST00000427926.1_Missense_Mutation_p.Q1142R|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1142	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCTGGCTGACTGAACAACTTC	0.517			T	?	ALCL								T|||	3	0.000599042	0.0023	0.0	5008	,	,		19417	0.0		0.0	False		,,,				2504	0.0				p.Q1142R		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1	115	.	0			c.A3425G						PASS	.	T	ARG/GLN,ARG/GLN	5,3951		0,5,1973	58	59	59		3425,3425	2.8	1	22		59	0,8310		0,0,4155	yes	missense,missense	CLTCL1	NM_001835.3,NM_007098.3	43,43	0,5,6128	CC,CT,TT		0.0,0.1264,0.0408	benign,benign	1142/1584,1142/1641	19196449	5,12261	1978	4155	6133	SO:0001583	missense	8218	exon21			GCTGACTGAACAA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3425A>G	22.37:g.19196449T>C	ENSP00000445677:p.Gln1142Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	96	53	0.552083	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.81	2.050304	0.36181	0.001264	0.0	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19532	2.14;2.14;2.14	3.85	2.82	0.32997	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.229394	0.37577	N	0.002026	T	0.15565	0.0375	N	0.26042	0.785	0.35290	D	0.782104	B;B	0.22541	0.003;0.071	B;B	0.31390	0.02;0.129	T	0.13899	-1.0492	10	0.39692	T	0.17	-8.2343	8.8849	0.35398	0.0:0.0903:0.0:0.9097	.	1142;1142	P53675-2;P53675	.;CLH2_HUMAN	R	1142	ENSP00000439662:Q1142R;ENSP00000445677:Q1142R;ENSP00000441158:Q1142R	ENSP00000445677:Q1142R	Q	-	2	0	CLTCL1	17576449	1.000000	0.71417	0.975000	0.42487	0.916000	0.54674	5.366000	0.66122	0.537000	0.28751	0.533000	0.62120	CAG	T|0.999;C|0.001	0.001	strong		0.517	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		C	19196449	T	C	19196449	3	2	22	1	0	0	0	0	1	0	0	0	3567	1580	55	3	1545	3	CLTCL1	22	19196449	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17595	19196449	32108117	10819	15927										
HIRA	7290	hgsc.bcm.edu	37	chr22	19340928	19340928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagccaatggcggtactcGtggctggactgcagggtgag	18	8	0	1	rs34000365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19340928G>A	ENST00000263208.5	-	23	3055	c.2799C>T	c.(2797-2799)caC>caT	p.H933H	HIRA_ENST00000546308.1_3'UTR|HIRA_ENST00000340170.4_Silent_p.H726H|HIRA_ENST00000541063.1_Silent_p.H889H	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	933	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGCGGTACTCGTGGCTGGACT	0.622													G|||	35	0.00698882	0.0257	0.0014	5008	,	,		20446	0.0		0.0	False		,,,				2504	0.0				p.H933H		Atlas-SNP	.											.	HIRA	100	.	0			c.C2799T						PASS	.	G		124,4282	91.1+/-129.8	3,118,2082	73	48	57		2799	-2.7	1	22	dbSNP_126	57	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	HIRA	NM_003325.3		3,126,6374	AA,AG,GG		0.093,2.8143,1.0149		933/1018	19340928	132,12874	2203	4300	6503	SO:0001819	synonymous_variant	7290	exon23			GTACTCGTGGCTG	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2799C>T	22.37:g.19340928G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_003325	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																			G|0.990;A|0.010	0.010	strong		0.622	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		A	19340928	G	A	19340928	2	1	22	1	0	0	0	0	0	0	0	1	7120	1136	40	1		1	HIRA	22	19340928	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	144479	19340928	31963638	10820	15928										
MRPL40	64976	hgsc.bcm.edu	37	chr22	19423250	19423250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtacaagcagcaagagcGtaagatggagagggacacca	13	8	0	3	rs7575	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19423250G>A	ENST00000333130.3	+	4	1039	c.386G>A	c.(385-387)cGt>cAt	p.R129H	HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	129			R -> H (in dbSNP:rs7575). {ECO:0000269|PubMed:9790763}.		anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAGCAAGAGCGTAAGATGGAG	0.552													A|||	1204	0.240415	0.4629	0.1599	5008	,	,		20621	0.1369		0.1302	False		,,,				2504	0.2168				p.R129H		Atlas-SNP	.											.	MRPL40	13	.	0			c.G386A						PASS	.	A	HIS/ARG	1771,2635	645.0+/-398.1	343,1085,775	151	153	152		386	4.1	0.4	22	dbSNP_52	152	1071,7529	769.9+/-407.6	59,953,3288	yes	missense	MRPL40	NM_003776.2	29	402,2038,4063	AA,AG,GG		12.4535,40.1952,21.8515	benign	129/207	19423250	2842,10164	2203	4300	6503	SO:0001583	missense	64976	exon4			AAGAGCGTAAGAT	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"Mitochondrial ribosomal proteins / large subunits"	14491	protein-coding gene	gene with protein product		605089	"nuclear localization signal deleted in velocardiofacial syndrome"	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.386G>A	22.37:g.19423250G>A	ENSP00000333401:p.Arg129His	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	145	75	0.517241	NM_003776	B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	CCDS13760.1	451	0.2065018315018315	228	0.4634146341463415	63	0.17403314917127072	67	0.11713286713286714	93	0.12269129287598944	A	1.612	-0.523852	0.04141	0.401952	0.124535	ENSG00000185608	ENST00000333130	T	0.46451	0.87	5.22	4.14	0.48551	.	0.279462	0.38381	N	0.001715	T	0.00012	0.0000	N	0.00128	-2.045	0.52099	P	5.299999999996974E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	9	0.02654	T	1	-2.778	8.2618	0.31790	0.7973:0.133:0.0697:0.0	rs7575;rs3177312;rs56481519;rs57534682;rs7575	129	Q9NQ50	RM40_HUMAN	H	129	ENSP00000333401:R129H	ENSP00000333401:R129H	R	+	2	0	MRPL40	17803250	0.994000	0.37717	0.381000	0.26106	0.244000	0.25665	3.268000	0.51585	1.001000	0.39076	-0.360000	0.07572	CGT	G|0.776;A|0.224	0.224	strong		0.552	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		A	19423250	G	A	19423250	3	1	22	1	0	0	0	0	1	0	0	0	9804	1145	40	1	400	1	MRPL40	22	19423250	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	82322	19423250	31881316	10821	15929										
COMT	1312	hgsc.bcm.edu	37	chr22	19950268	19950268	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggagcccgggaacgcacaGagcgtgctggaggccattga	17	11	0	2	rs740602	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19950268G>A	ENST00000361682.6	+	3	601	c.219G>A	c.(217-219)caG>caA	p.Q73Q	COMT_ENST00000403710.1_Silent_p.Q73Q|COMT_ENST00000406520.3_Silent_p.Q73Q|COMT_ENST00000407537.1_Silent_p.Q23Q|COMT_ENST00000449653.1_Silent_p.Q23Q|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000403184.1_Silent_p.Q73Q	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	73					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	GGAACGCACAGAGCGTGCTGG	0.622													G|||	300	0.0599042	0.2005	0.0202	5008	,	,		18048	0.0		0.0089	False		,,,				2504	0.0123				p.Q73Q		Atlas-SNP	.											.	COMT	10	.	0			c.G219A						PASS	.	G	,,,	790,3616	314.4+/-293.6	72,646,1485	80	75	77		219,219,219,69	2.2	1	22	dbSNP_86	77	39,8561	25.7+/-73.6	0,39,4261	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COMT	NM_000754.3,NM_001135161.1,NM_001135162.1,NM_007310.2	,,,	72,685,5746	AA,AG,GG		0.4535,17.9301,6.374	,,,	73/272,73/272,73/272,23/222	19950268	829,12177	2203	4300	6503	SO:0001819	synonymous_variant	1312	exon3			CGCACAGAGCGTG		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.219G>A	22.37:g.19950268G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_000754	A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	CCDS13770.1																																																																																			A|0.059;C|0.007	0.059	strong		0.622	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		A	19950268	G	A	19950268	2	1	22	1	0	0	0	0	0	0	0	1	3725	933	33	2		2	COMT	22	19950268	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	527018	19950268	31354298	10822	15930										
ARVCF	421	hgsc.bcm.edu	37	chr22	19960666	19960666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccacgagagccaccaacGctggcaccccgcgtgcctgc	12	18	0	1	rs115736959	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19960666G>A	ENST00000263207.3	-	14	2705	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	ARVCF_ENST00000401994.1_Missense_Mutation_p.A742V|ARVCF_ENST00000344269.3_Missense_Mutation_p.A742V|ARVCF_ENST00000406259.1_Missense_Mutation_p.A799V|ARVCF_ENST00000406522.1_Missense_Mutation_p.A736V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	805					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGCCACCAACGCTGGCACCCC	0.711													G|||	64	0.0127796	0.0446	0.0072	5008	,	,		10944	0.0		0.0	False		,,,				2504	0.0				p.A805V		Atlas-SNP	.											.	ARVCF	54	.	0			c.C2414T						PASS	.	G	VAL/ALA	188,4196		0,188,2004	19	18	18		2414	3.2	0.1	22	dbSNP_132	18	2,8574		0,2,4286	yes	missense	ARVCF	NM_001670.2	64	0,190,6290	AA,AG,GG		0.0233,4.2883,1.466	benign	805/963	19960666	190,12770	2192	4288	6480	SO:0001583	missense	421	exon14			ACCAACGCTGGCA		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2414C>T	22.37:g.19960666G>A	ENSP00000263207:p.Ala805Val	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	38	19	0.5	NM_001670	B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	CCDS13771.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	G	15.10	2.734386	0.48939	0.042883	2.33E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.34	3.24	0.37175	Armadillo-like helical (1);Armadillo-type fold (1);	0.113654	0.56097	D	0.000025	T	0.06325	0.0163	N	0.22421	0.69	0.36590	D	0.874035	P;D	0.54601	0.782;0.967	B;B	0.34779	0.189;0.163	T	0.07986	-1.0744	9	.	.	.	-12.0845	9.633	0.39791	0.0:0.0:0.6411:0.3589	.	805;321	O00192;E7EV58	ARVC_HUMAN;.	V	805;742;742;736;799	ENSP00000263207:A805V;ENSP00000342042:A742V;ENSP00000384341:A742V;ENSP00000384732:A736V;ENSP00000385444:A799V	.	A	-	2	0	ARVCF	18340666	0.895000	0.30542	0.102000	0.21198	0.078000	0.17371	3.057000	0.49931	2.416000	0.81992	0.561000	0.74099	GCG	G|0.985;A|0.015	0.015	strong		0.711	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		A	19960666	G	A	19960666	3	1	22	1	0	0	0	0	1	0	0	0	1003	1087	38	1	498	1	ARVCF	22	19960666	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	10398	19960666	31343900	10823	15931										
ARVCF	421	hgsc.bcm.edu	37	chr22	19968971	19968971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagccatcaccagggcctGggccaagggggccagcacgt	15	14	1	0	rs2073748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:19968971G>A	ENST00000263207.3	-	5	950	c.659C>T	c.(658-660)cCa>cTa	p.P220L	ARVCF_ENST00000401994.1_Missense_Mutation_p.P157L|ARVCF_ENST00000344269.3_Missense_Mutation_p.P157L|ARVCF_ENST00000406259.1_Missense_Mutation_p.P220L|ARVCF_ENST00000406522.1_Missense_Mutation_p.P157L|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	220			P -> L (in dbSNP:rs2073748).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCAGGGCCTGGGCCAAGGGG	0.736													G|||	1803	0.360024	0.3858	0.3501	5008	,	,		14736	0.2302		0.3439	False		,,,				2504	0.4826				p.P220L		Atlas-SNP	.											.	ARVCF	54	.	0			c.C659T						PASS	.	G	LEU/PRO	1437,2667		325,787,940	4	6	5		659	1.3	0.3	22	dbSNP_96	5	2767,5341		604,1559,1891	yes	missense	ARVCF	NM_001670.2	98	929,2346,2831	AA,AG,GG		34.1268,35.0146,34.4252	possibly-damaging	220/963	19968971	4204,8008	2052	4054	6106	SO:0001583	missense	421	exon5			GGGCCTGGGCCAA		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.659C>T	22.37:g.19968971G>A	ENSP00000263207:p.Pro220Leu	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	14	7	0.5	NM_001670	B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	CCDS13771.1	710	0.3250915750915751	185	0.37601626016260165	124	0.3425414364640884	132	0.23076923076923078	269	0.3548812664907652	G	5.855	0.341913	0.11069	0.350146	0.341268	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.71	1.26	0.21427	.	0.259697	0.36591	N	0.002506	T	0.00012	0.0000	N	0.22421	0.69	0.41181	P	0.01376299999999997	B	0.02656	0.0	B	0.04013	0.001	T	0.46693	-0.9173	8	.	.	.	-2.486	1.505	0.02484	0.1767:0.1188:0.4279:0.2766	rs2073748;rs2073748	220	O00192	ARVC_HUMAN	L	220;157;157;157;220	ENSP00000263207:P220L;ENSP00000342042:P157L;ENSP00000384341:P157L;ENSP00000384732:P157L;ENSP00000385444:P220L	.	P	-	2	0	ARVCF	18348971	0.023000	0.18921	0.293000	0.24932	0.524000	0.34500	0.843000	0.27640	0.719000	0.32188	-0.140000	0.14226	CCA	G|0.654;T|0.005	.	strong		0.736	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		A	19968971	G	A	19968971	3	1	22	1	0	0	0	0	1	0	0	0	1003	1348	47	2	2289	2	ARVCF	22	19968971	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8305	19968971	31335595	10824	15932										
RANBP1	5902	hgsc.bcm.edu	37	chr22	20112868	20112868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaagcccaacgcaggtagCgaccgtgcctgggtctggaa	14	12	1	1	rs111311060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:20112868C>T	ENST00000331821.3	+	4	450	c.348C>T	c.(346-348)agC>agT	p.S116S	RANBP1_ENST00000402752.1_Silent_p.S116S|SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000430524.1_Silent_p.S26S	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	116	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					ACGCAGGTAGCGACCGTGCCT	0.607													C|||	15	0.00299521	0.0113	0.0	5008	,	,		18036	0.0		0.0	False		,,,				2504	0.0				p.S116S		Atlas-SNP	.											.	RANBP1	19	.	0			c.C348T						PASS	.	C		33,4373	38.4+/-70.7	0,33,2170	62	57	59		348	-10	0.4	22	dbSNP_132	59	0,8600		0,0,4300	no	coding-synonymous	RANBP1	NM_002882.2		0,33,6470	TT,TC,CC		0.0,0.749,0.2537		116/202	20112868	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	5902	exon4			AGGTAGCGACCGT	D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.348C>T	22.37:g.20112868C>T		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	180	91	0.505556	NM_002882	Q53EY3	Silent	SNP	ENST00000331821.3	37	CCDS13775.1																																																																																			C|0.997;T|0.003	0.003	strong		0.607	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		T	20112868	C	T	20112868	2	4	22	1	0	0	0	0	0	0	0	1	13025	767	27	1		1	RANBP1	22	20112868	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	143897	20112868	31191698	10825	15933										
ZNF74	7625	hgsc.bcm.edu	37	chr22	20760106	20760106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggcgttccgccagagctcCtccctcacgctgcaccggcg	11	18	1	1	rs2229316	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:20760106C>T	ENST00000400451.2	+	5	1297	c.783C>T	c.(781-783)tcC>tcT	p.S261S	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.S261S|ZNF74_ENST00000405993.1_Silent_p.S229S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	261					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCAGAGCTCCTCCCTCACGC	0.687													C|||	95	0.0189696	0.0696	0.0043	5008	,	,		15500	0.0		0.0	False		,,,				2504	0.0				p.S261S		Atlas-SNP	.											.	ZNF74	54	.	0			c.C783T						PASS	.	C		188,4216		6,176,2020	21	25	23		783	-7	0	22	dbSNP_98	23	3,8593		0,3,4295	no	coding-synonymous	ZNF74	NM_003426.2		6,179,6315	TT,TC,CC		0.0349,4.2688,1.4692		261/645	20760106	191,12809	2202	4298	6500	SO:0001819	synonymous_variant	7625	exon5			GAGCTCCTCCCTC	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.783C>T	22.37:g.20760106C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_003426	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	CCDS42982.1																																																																																			C|0.982;T|0.018	0.018	strong		0.687	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		T	20760106	C	T	20760106	2	4	22	1	0	0	0	0	0	0	0	1	18124	668	24	2		2	ZNF74	22	20760106	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	647238	20760106	30544460	10826	15934										
MED15	51586	hgsc.bcm.edu	37	chr22	20909389	20909389	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgcctcctgggacctcgggGatggcccctcacagcatggc	13	17	1	0	rs147554746	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:20909389G>A	ENST00000263205.7	+	5	474	c.405G>A	c.(403-405)ggG>ggA	p.G135G	MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Silent_p.G109G|MED15_ENST00000292733.7_Silent_p.G135G|MED15_ENST00000541476.1_Silent_p.G109G	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	135					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGACCTCGGGGATGGCCCCTC	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17772	0.0		0.0	False		,,,				2504	0.0				p.G135G		Atlas-SNP	.											.	MED15	68	.	0			c.G405A						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	29	29	29		405,405	-2	1	22	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MED15	NM_001003891.1,NM_015889.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	135/789,135/749	20909389	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51586	exon5			CTCGGGGATGGCC	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.405G>A	22.37:g.20909389G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_015889	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	CCDS33602.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.36	1.615678	0.28801	2.27E-4	0.0	ENSG00000099917	ENST00000423862	.	.	.	5.46	-2.03	0.07365	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	1.4274	0.02326	0.2499:0.2738:0.3381:0.1381	.	.	.	.	N	76	.	.	D	+	1	0	MED15	19239389	0.446000	0.25665	0.981000	0.43875	0.986000	0.74619	-0.516000	0.06282	-0.109000	0.12044	-0.225000	0.12378	GAT	G|1.000;A|0.000	0.000	strong		0.612	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		A	20909389	G	A	20909389	2	1	22	1	0	0	0	0	0	0	0	1	9433	1161	41	2		2	MED15	22	20909389	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149283	20909389	30395177	10827	15935										
PI4KA	5297	hgsc.bcm.edu	37	chr22	21064203	21064203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaggaacctacttcaagaGcttgattgtctggccgcgaa	10	11	2	2	rs535848772	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21064203G>A	ENST00000572273.1	-	53	6222	c.5992C>T	c.(5992-5994)Ctc>Ttc	p.L1998F	PI4KA_ENST00000255882.6_Missense_Mutation_p.L2056F|PI4KA_ENST00000414196.3_Missense_Mutation_p.L808F			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1998	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L1998F(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TACTTCAAGAGCTTGATTGTC	0.552													N|||	2	0.000399361	0.0	0.0	5008	,	,		20722	0.0		0.001	False		,,,				2504	0.001				p.L2056F	GBM(136;1332 1831 3115 23601 50806)	Atlas-SNP	.											PI4KA_ENST00000255882,trunk,malignant_melanoma,0,4	PI4KA	313	4	2	Substitution - Missense(2)	skin(2)	c.C6166T						scavenged	.						77	64	68					22																	21064203		2203	4298	6501	SO:0001583	missense	5297	exon53			TCAAGAGCTTGAT	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5992C>T	22.37:g.21064203G>A	ENSP00000458238:p.Leu1998Phe	Somatic	742	6	0.00808625		WXS	Illumina HiSeq	Phase_I	757	10	0.01321	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	15.61	2.884950	0.51908	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.13538	2.58;2.58	5.02	4.01	0.46588	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.067129	0.64402	D	0.000009	T	0.17450	0.0419	M	0.76002	2.32	0.80722	D	1	B;B	0.32731	0.008;0.382	B;B	0.32677	0.031;0.15	T	0.02053	-1.1222	10	0.37606	T	0.19	-16.0004	10.5242	0.44938	0.1567:0.0:0.8433:0.0	.	389;1998	A8MTF1;P42356	.;PI4KA_HUMAN	F	1998;808;389	ENSP00000402981:L808F;ENSP00000382162:L389F	ENSP00000255882:L1998F	L	-	1	0	PI4KA	19394203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.055000	0.57441	1.116000	0.41820	0.544000	0.68410	CTC	.	.	weak		0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21064203	G	A	21064203	3	1	22	1	0	0	0	0	1	0	0	0	11873	971	34	2	154	2	PI4KA	22	21064203	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	154814	21064203	30240363	10828	15936										
AIFM3	150209	hgsc.bcm.edu	37	chr22	21333605	21333605	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcaggaggcggagatgaGcactgtgccctacctctgga	16	11	1	2	rs61356271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21333605G>C	ENST00000399167.2	+	17	1763	c.1523G>C	c.(1522-1524)aGc>aCc	p.S508T	AIFM3_ENST00000399163.2_Missense_Mutation_p.S508T|AIFM3_ENST00000465606.1_3'UTR|XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000333607.6_Missense_Mutation_p.S508T|AIFM3_ENST00000405089.1_Missense_Mutation_p.S514T|AIFM3_ENST00000440238.2_Missense_Mutation_p.S508T|AIFM3_ENST00000335375.5_Missense_Mutation_p.S496T|LZTR1_ENST00000215739.8_5'Flank	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	508			S -> T (in dbSNP:rs61356271).		cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCGGAGATGAGCACTGTGCCC	0.672													g|||	270	0.0539137	0.1936	0.0202	5008	,	,		12709	0.0		0.0	False		,,,				2504	0.0				p.S514T		Atlas-SNP	.											.	AIFM3	49	.	0			c.G1541C						PASS	.	C	THR/SER,THR/SER,THR/SER	570,3784		38,494,1645	32	25	27		1523,1541,1523	0.2	0.8	22	dbSNP_129	27	8,8502		0,8,4247	yes	missense,missense,missense	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	58,58,58	38,502,5892	CC,CG,GG		0.094,13.0914,4.4932	,,	508/599,514/605,508/606	21333605	578,12286	2177	4255	6432	SO:0001583	missense	150209	exon17			AGATGAGCACTGT	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1523G>C	22.37:g.21333605G>C	ENSP00000382120:p.Ser508Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	183	98	0.535519	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	83	0.038003663003663	75	0.1524390243902439	8	0.022099447513812154	0	0.0	0	0.0	g	5.235	0.228779	0.09916	0.130914	9.4E-4	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.65	0.178	0.15058	FAD/NAD-linked reductase, dimerisation (1);	0.334108	0.35772	N	0.003000	T	0.00109	0.0003	N	0.16266	0.395	0.54753	P	1.2000000000012001E-5	B;B;B;B	0.22983	0.078;0.05;0.05;0.029	B;B;B;B	0.18561	0.022;0.022;0.022;0.01	T	0.24333	-1.0163	9	0.10636	T	0.68	-15.7117	5.9493	0.19237	0.3378:0.1331:0.5291:0.0	rs61356271	496;514;508;508	B7Z9S7;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;AIFM3_HUMAN	T	508;508;514;496;508;508	ENSP00000382120:S508T;ENSP00000382116:S508T;ENSP00000385800:S514T;ENSP00000335369:S496T;ENSP00000390798:S508T;ENSP00000327671:S508T	ENSP00000327671:S508T	S	+	2	0	AIFM3	19663605	0.785000	0.28726	0.846000	0.33378	0.236000	0.25371	0.863000	0.27913	-0.250000	0.09555	-2.308000	0.00257	AGC	G|0.946;C|0.054	0.054	strong		0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		C	21333605	G	C	21333605	3	2	22	1	0	0	0	0	1	0	0	0	428	971	34	4	1603	4	AIFM3	22	21333605	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	269402	21333605	29970961	10829	15937										
LZTR1	8216	hgsc.bcm.edu	37	chr22	21348914	21348914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgagcttccagttgtgccgCctggagcagctgtgccgcca	13	14	0	1	rs4822790	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21348914C>T	ENST00000215739.8	+	15	2042	c.1683C>T	c.(1681-1683)cgC>cgT	p.R561R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.R542R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	561					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGTTGTGCCGCCTGGAGCAGC	0.627													C|||	846	0.16893	0.1997	0.1124	5008	,	,		16176	0.2262		0.1352	False		,,,				2504	0.1431				p.R561R		Atlas-SNP	.											.	LZTR1	99	.	0			c.C1683T						PASS	.	C		791,3613	314.1+/-293.5	65,661,1476	63	49	54		1683	3.7	1	22	dbSNP_111	54	1023,7577	218.3+/-256.7	54,915,3331	no	coding-synonymous	LZTR1	NM_006767.3		119,1576,4807	TT,TC,CC		11.8953,17.9609,13.9496		561/841	21348914	1814,11190	2202	4300	6502	SO:0001819	synonymous_variant	8216	exon15			GTGCCGCCTGGAG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1683C>T	22.37:g.21348914C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	85	0.977012	NM_006767	Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	CCDS33606.1																																																																																			C|0.855;T|0.145	0.145	strong		0.627	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21348914	C	T	21348914	2	4	22	1	0	0	0	0	0	0	0	1	9137	726	26	2		2	LZTR1	22	21348914	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	15309	21348914	29955652	10830	15938										
P2RX6	9127	hgsc.bcm.edu	37	chr22	21377301	21377301	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagatctggagttggtgcccCgtggagagtggcgttgtgcc	18	8	1	2	rs1548411	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21377301C>A	ENST00000413302.2	+	5	682	c.534C>A	c.(532-534)ccC>ccA	p.P178P	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.P125P|P2RX6_ENST00000336296.2_Silent_p.P168P|P2RX6_ENST00000401443.1_Silent_p.P152P			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	178					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										GTTGGTGCCCCGTGGAGAGTG	0.577													A|||	3157	0.630391	0.7587	0.67	5008	,	,		18740	0.6349		0.5358	False		,,,				2504	0.5215				p.P178P		Atlas-SNP	.											.	.	.	.	0			c.C534A						PASS	.	A	,	3215,1191	418.3+/-338.2	1193,829,181	163	162	162		456,534	-10.6	0.3	22	dbSNP_88	162	4505,4095	561.9+/-387.9	1201,2103,996	no	coding-synonymous,coding-synonymous	P2RX6	NM_001159554.1,NM_005446.3	,	2394,2932,1177	AA,AC,CC		47.6163,27.0313,40.6428	,	152/416,178/442	21377301	7720,5286	2203	4300	6503	SO:0001819	synonymous_variant	9127	exon5			GTGCCCCGTGGAG		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.534C>A	22.37:g.21377301C>A		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	163	163	1	NM_005446	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	CCDS13788.2																																																																																			C|0.383;A|0.617	0.617	strong		0.577	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		A	21377301	C	A	21377301	2	1	22	1	0	0	0	0	0	0	0	1	11344	639	23	4		4	P2RX6	22	21377301	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	28387	21377301	29927265	10831	15939										
SLC7A4	6545	hgsc.bcm.edu	37	chr22	21384578	21384578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggaagaagagcccatcggCggccatggcatagacaatgc	13	11	0	3	rs2270384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21384578C>T	ENST00000382932.2	-	3	1112	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.A349T	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	349			A -> T (in dbSNP:rs2270384). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCCCATCGGCGGCCATGGCA	0.647													C|||	1654	0.330272	0.3381	0.2522	5008	,	,		18900	0.5456		0.1093	False		,,,				2504	0.3804				p.A349T		Atlas-SNP	.											.	SLC7A4	50	.	0			c.G1045A						PASS	.	C	THR/ALA	1310,3096	430.6+/-342.6	193,924,1086	48	43	45		1045	2.6	0	22	dbSNP_100	45	880,7716	194.9+/-240.2	57,766,3475	yes	missense	SLC7A4	NM_004173.2	58	250,1690,4561	TT,TC,CC		10.2373,29.7322,16.8436	benign	349/636	21384578	2190,10812	2203	4298	6501	SO:0001583	missense	6545	exon3			CATCGGCGGCCAT	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1045G>A	22.37:g.21384578C>T	ENSP00000372390:p.Ala349Thr	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	213	113	0.530516	NM_004173	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	589	0.2696886446886447	149	0.30284552845528456	80	0.22099447513812154	285	0.4982517482517482	75	0.09894459102902374	C	8.121	0.780865	0.16120	0.297322	0.102373	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89415	-2.51;-2.51	4.94	2.62	0.31277	Amino acid permease domain (1);	0.320496	0.32624	N	0.005858	T	0.00012	0.0000	N	0.25647	0.755	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.37709	-0.9694	9	0.23302	T	0.38	.	9.2769	0.37705	0.0:0.8083:0.0:0.1917	rs2270384;rs17212409;rs58937775;rs2270384	349	O43246	CTR4_HUMAN	T	349	ENSP00000384278:A349T;ENSP00000372390:A349T	ENSP00000372390:A349T	A	-	1	0	SLC7A4	19714578	0.001000	0.12720	0.001000	0.08648	0.099000	0.18886	0.335000	0.19806	0.671000	0.31185	0.561000	0.74099	GCC	C|0.775;T|0.225	0.225	strong		0.647	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		T	21384578	C	T	21384578	3	4	22	1	0	0	0	0	1	0	0	0	14699	768	27	1	874	1	SLC7A4	22	21384578	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	7277	21384578	29919988	10832	15940										
SLC7A4	6545	hgsc.bcm.edu	37	chr22	21385427	21385427	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagggtgcaaagccgccttcGtcagcgctccagttgtgagg	14	11	1	1	rs80061703	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21385427G>C	ENST00000382932.2	-	2	742	c.675C>G	c.(673-675)gaC>gaG	p.D225E	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.D225E	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	225					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCCGCCTTCGTCAGCGCTCC	0.597													G|||	150	0.0299521	0.1104	0.0058	5008	,	,		20919	0.0		0.0	False		,,,				2504	0.0				p.D225E		Atlas-SNP	.											.	SLC7A4	50	.	0			c.C675G						PASS	.	G	GLU/ASP	446,3960	209.5+/-230.2	21,404,1778	55	56	56		675	0.6	0.2	22	dbSNP_131	56	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC7A4	NM_004173.2	45	21,409,6073	CC,CG,GG		0.0581,10.1226,3.4676	benign	225/636	21385427	451,12555	2203	4300	6503	SO:0001583	missense	6545	exon2			GCCTTCGTCAGCG	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.675C>G	22.37:g.21385427G>C	ENSP00000372390:p.Asp225Glu	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	54	34	0.62963	NM_004173	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	51	0.023351648351648352	47	0.09552845528455285	4	0.011049723756906077	0	0.0	0	0.0	G	0.007	-1.958563	0.00465	0.101226	5.81E-4	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89123	-2.47;-2.47	5.28	0.649	0.17806	Amino acid permease domain (1);	0.917457	0.09445	N	0.801263	T	0.03263	0.0095	N	0.00811	-1.165	0.20563	N	0.999887	B	0.02656	0.0	B	0.08055	0.003	T	0.40251	-0.9573	10	0.02654	T	1	.	2.2473	0.04034	0.1467:0.403:0.2873:0.1629	.	225	O43246	CTR4_HUMAN	E	225	ENSP00000384278:D225E;ENSP00000372390:D225E	ENSP00000372390:D225E	D	-	3	2	SLC7A4	19715427	0.085000	0.21516	0.212000	0.23672	0.016000	0.09150	0.308000	0.19314	0.022000	0.15160	-1.219000	0.01604	GAC	G|0.969;C|0.031	0.031	strong		0.597	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		C	21385427	G	C	21385427	3	2	22	1	0	0	0	0	1	0	0	0	14699	1136	40	4	1248	4	SLC7A4	22	21385427	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	849	21385427	29919139	10833	15941										
SLC7A4	6545	hgsc.bcm.edu	37	chr22	21385843	21385843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaaattctgcatagcataGggctgccagcagggaggcca	12	12	1	0	rs2072549	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21385843G>A	ENST00000382932.2	-	2	326	c.259C>T	c.(259-261)Cta>Tta	p.L87L	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.L87L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	87					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCATAGCATAGGGCTGCCAGC	0.637													G|||	1045	0.208666	0.1566	0.2853	5008	,	,		17782	0.3294		0.2097	False		,,,				2504	0.0992				p.L87L		Atlas-SNP	.											.	SLC7A4	50	.	0			c.C259T						PASS	.	G		759,3647	304.6+/-288.6	63,633,1507	66	49	55		259	5.4	0.6	22	dbSNP_96	55	1693,6907	305.3+/-307.4	174,1345,2781	no	coding-synonymous	SLC7A4	NM_004173.2		237,1978,4288	AA,AG,GG		19.686,17.2265,18.8528		87/636	21385843	2452,10554	2203	4300	6503	SO:0001819	synonymous_variant	6545	exon2			AGCATAGGGCTGC	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.259C>T	22.37:g.21385843G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	41	20	0.487805	NM_004173	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																			G|0.789;A|0.211	0.211	strong		0.637	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		A	21385843	G	A	21385843	2	1	22	1	0	0	0	0	0	0	0	1	14699	991	35	2		2	SLC7A4	22	21385843	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	416	21385843	29918723	10834	15942										
SLC7A4	6545	hgsc.bcm.edu	37	chr22	21386019	21386019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccgcagtgacgtctccatgGtggagtcctccagcggcttc	13	14	1	1	rs2072550	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21386019G>A	ENST00000382932.2	-	2	150	c.83C>T	c.(82-84)aCc>aTc	p.T28I	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.T28I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	28			T -> I (in dbSNP:rs2072550). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCATGGTGGAGTCCTC	0.657													G|||	1653	0.330072	0.3396	0.2507	5008	,	,		16256	0.5446		0.1093	False		,,,				2504	0.3793				p.T28I		Atlas-SNP	.											SLC7A4,NS,carcinoma,0,1	SLC7A4	50	1	0			c.C83T						PASS	.	G	ILE/THR	1310,3096	425.9+/-341.0	193,924,1086	40	42	41		83	-2.4	0	22	dbSNP_96	41	877,7723	196.6+/-241.5	54,769,3477	yes	missense	SLC7A4	NM_004173.2	89	247,1693,4563	AA,AG,GG		10.1977,29.7322,16.8153	benign	28/636	21386019	2187,10819	2203	4300	6503	SO:0001583	missense	6545	exon2			TCCATGGTGGAGT	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.83C>T	22.37:g.21386019G>A	ENSP00000372390:p.Thr28Ile	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	92	38	0.413043	NM_004173	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	589	0.2696886446886447	149	0.30284552845528456	80	0.22099447513812154	285	0.4982517482517482	75	0.09894459102902374	G	10.19	1.282348	0.23392	0.297322	0.101977	ENSG00000099960	ENST00000403586;ENST00000382932;ENST00000426145	D;D;T	0.85955	-2.05;-2.05;1.5	5.37	-2.36	0.06663	.	0.511281	0.22093	N	0.064732	T	0.00012	0.0000	M	0.74258	2.255	0.80722	P	0.0	B	0.22683	0.073	B	0.23018	0.043	T	0.40831	-0.9542	9	0.38643	T	0.18	.	11.613	0.51072	0.1239:0.6088:0.2673:0.0	rs2072550;rs61412131;rs2072550	28	O43246	CTR4_HUMAN	I	28	ENSP00000384278:T28I;ENSP00000372390:T28I;ENSP00000408727:T28I	ENSP00000372390:T28I	T	-	2	0	SLC7A4	19716019	1.000000	0.71417	0.006000	0.13384	0.685000	0.39939	2.623000	0.46435	-0.167000	0.10871	-0.479000	0.04858	ACC	G|0.786;A|0.214	0.214	strong		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		A	21386019	G	A	21386019	3	1	22	1	0	0	0	0	1	0	0	0	14699	1261	44	2	1840	2	SLC7A4	22	21386019	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	176	21386019	29918547	10835	15943										
UBE2L3	7332	hgsc.bcm.edu	37	chr22	21965298	21965298	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtctgccagtaattagtgcCgaaaactggaagccagcaac	10	10	1	0	rs61133050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21965298C>G	ENST00000342192.4	+	3	474	c.276C>G	c.(274-276)gcC>gcG	p.A92A	UBE2L3_ENST00000458578.2_Silent_p.A150A|UBE2L3_ENST00000545681.1_Silent_p.A60A	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	92					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					TAATTAGTGCCGAAAACTGGA	0.512													T|||	162	0.0323482	0.1172	0.0101	5008	,	,		17052	0.0		0.0	False		,,,				2504	0.0				p.A150A		Atlas-SNP	.											.	UBE2L3	11	.	0			c.C450G						PASS	.	T		393,4013		18,357,1828	38	38	38		276	4.6	1	22	dbSNP_129	38	4,8596		0,4,4296	no	coding-synonymous	UBE2L3	NM_003347.2		18,361,6124	GG,GC,CC		0.0465,8.9197,3.0524		92/155	21965298	397,12609	2203	4300	6503	SO:0001819	synonymous_variant	7332	exon3			TAGTGCCGAAAAC	AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"Ubiquitin-conjugating enzymes E2"	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.276C>G	22.37:g.21965298C>G		Somatic	446	0	0		WXS	Illumina HiSeq	Phase_I	459	203	0.442266	NM_001256355	B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Silent	SNP	ENST00000342192.4	37	CCDS13790.1																																																																																			C|0.964;G|0.036	0.036	strong		0.512	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		G	21965298	C	G	21965298	2	3	22	1	0	0	0	0	0	0	0	1	16860	639	23	4		4	UBE2L3	22	21965298	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	579279	21965298	29339268	10836	15944										
CCDC116	164592	hgsc.bcm.edu	37	chr22	21988602	21988602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggtgccaagtggtggaCggcgggcacatgcccggccc	18	12	0	0	rs861853	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21988602C>T	ENST00000292779.3	+	3	525	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	CCDC116_ENST00000607942.1_Missense_Mutation_p.R122W	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	122			R -> W (in dbSNP:rs861853).							endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AAGTGGTGGACGGCGGGCACA	0.662													C|||	672	0.134185	0.2421	0.1066	5008	,	,		15625	0.003		0.1889	False		,,,				2504	0.0869				p.R122W		Atlas-SNP	.											.	CCDC116	56	.	0			c.C364T						PASS	.	C	TRP/ARG	1015,3391	371.7+/-320.1	109,797,1297	90	84	86		364	2	0	22	dbSNP_86	86	1526,7074	286.1+/-297.5	138,1250,2912	no	missense	CCDC116	NM_152612.2	101	247,2047,4209	TT,TC,CC		17.7442,23.0368,19.5371	probably-damaging	122/614	21988602	2541,10465	2203	4300	6503	SO:0001583	missense	164592	exon3			GGTGGACGGCGGG	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.364C>T	22.37:g.21988602C>T	ENSP00000292779:p.Arg122Trp	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_152612	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	322	0.14743589743589744	126	0.25609756097560976	43	0.11878453038674033	2	0.0034965034965034965	151	0.19920844327176782	C	12.66	2.004421	0.35320	0.230368	0.177442	ENSG00000161180	ENST00000292779	T	0.23552	1.9	4.42	2.05	0.26809	.	1.322430	0.05338	N	0.529573	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	D;D	0.89917	1.0;0.999	D;D	0.68483	0.958;0.942	T	0.22347	-1.0219	8	.	.	.	-30.0854	6.6824	0.23127	0.2055:0.5952:0.1992:0.0	rs861853;rs1647700	122;122	B7Z7H5;Q8IYX3-2	.;.	W	122	ENSP00000292779:R122W	.	R	+	1	2	CCDC116	20318602	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.357000	0.20199	1.150000	0.42419	0.491000	0.48974	CGG	C|0.817;T|0.183	0.183	strong		0.662	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21988602	C	T	21988602	3	4	22	1	0	0	0	0	1	0	0	0	2753	527	19	1	370	1	CCDC116	22	21988602	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23304	21988602	29315964	10837	15945										
CCDC116	164592	hgsc.bcm.edu	37	chr22	21989230	21989230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgacctgcctggctactgtcCgctccgtgagccccatcgca	10	18	0	1	rs41279987	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21989230C>T	ENST00000292779.3	+	4	1039	c.878C>T	c.(877-879)cCg>cTg	p.P293L	CCDC116_ENST00000607942.1_Missense_Mutation_p.P293L	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	293			P -> L (in dbSNP:rs41279987).							endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGCTACTGTCCGCTCCGTGAG	0.597													C|||	124	0.0247604	0.0893	0.0086	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0				p.P293L		Atlas-SNP	.											CCDC116,NS,carcinoma,-1,1	CCDC116	56	1	0			c.C878T						PASS	.	C	LEU/PRO	278,4128	155.5+/-188.7	7,264,1932	78	80	79		878	2.1	0	22	dbSNP_127	79	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CCDC116	NM_152612.2	98	7,267,6229	TT,TC,CC		0.0349,6.3096,2.1605	benign	293/614	21989230	281,12725	2203	4300	6503	SO:0001583	missense	164592	exon4			ACTGTCCGCTCCG	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.878C>T	22.37:g.21989230C>T	ENSP00000292779:p.Pro293Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	62	27	0.435484	NM_152612	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	49	0.022435897435897436	45	0.09146341463414634	4	0.011049723756906077	0	0.0	0	0.0	C	11.67	1.706989	0.30232	0.063096	3.49E-4	ENSG00000161180	ENST00000292779	T	0.12465	2.68	4.39	2.13	0.27403	.	0.960630	0.08582	N	0.924354	T	0.00328	0.0010	L	0.34521	1.04	0.09310	N	1	P;P	0.38863	0.65;0.65	B;B	0.29524	0.103;0.064	T	0.33624	-0.9861	10	0.72032	D	0.01	-14.4612	4.7066	0.12853	0.2143:0.6741:0.0:0.1116	rs41279987	293;293	B7Z7H5;Q8IYX3-2	.;.	L	293	ENSP00000292779:P293L	ENSP00000292779:P293L	P	+	2	0	CCDC116	20319230	0.000000	0.05858	0.003000	0.11579	0.260000	0.26232	0.439000	0.21575	1.216000	0.43427	0.561000	0.74099	CCG	C|0.974;T|0.026	0.026	strong		0.597	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21989230	C	T	21989230	3	4	22	1	0	0	0	0	1	0	0	0	2753	652	23	1	888	1	CCDC116	22	21989230	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	628	21989230	29315336	10838	15946										
CCDC116	164592	hgsc.bcm.edu	37	chr22	21991224	21991224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctacatgtctgcctgcacCggcatgggttccagtccccc	9	17	2	0	rs45533832	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:21991224C>T	ENST00000292779.3	+	5	1868	c.1707C>T	c.(1705-1707)acC>acT	p.T569T		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTGCCTGCACCGGCATGGGTT	0.577													C|||	124	0.0247604	0.0893	0.0086	5008	,	,		20745	0.0		0.0	False		,,,				2504	0.0				p.T569T		Atlas-SNP	.											.	CCDC116	56	.	0			c.C1707T						PASS	.	C		279,4127	155.5+/-188.7	7,265,1931	77	78	78		1707	-7.8	0	22	dbSNP_127	78	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CCDC116	NM_152612.2		7,269,6227	TT,TC,CC		0.0465,6.3323,2.1759		569/614	21991224	283,12723	2203	4300	6503	SO:0001819	synonymous_variant	164592	exon5			CTGCACCGGCATG	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1707C>T	22.37:g.21991224C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_152612	Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																			C|0.974;T|0.026	0.026	strong		0.577	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21991224	C	T	21991224	2	4	22	1	0	0	0	0	0	0	0	1	2753	639	23	1		1	CCDC116	22	21991224	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1994	21991224	29313342	10839	15947										
PPIL2	29799	hgsc.bcm.edu	37	chr22	22049783	22049783	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcagctcctggtagcagCaggttggccgctgtggacct	13	12	1	0	rs12484060	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:22049783C>T	ENST00000339468.3	-	0	4329				PPIL2_ENST00000456792.2_Missense_Mutation_p.A467V|PPIL2_ENST00000335025.8_3'UTR|PPIL2_ENST00000406385.1_3'UTR|PPIL2_ENST00000398831.3_3'UTR|PPIL2_ENST00000492445.2_3'UTR|PPIL2_ENST00000412327.1_Silent_p.S521S|PPIL2_ENST00000446951.1_3'UTR	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CTGGTAGCAGCAGGTTGGCCG	0.607													C|||	1832	0.365815	0.4032	0.3473	5008	,	,		17350	0.4425		0.3211	False		,,,				2504	0.2955				p.S521S		Atlas-SNP	.											.	PPIL2	38	.	0			c.C1563T						PASS	.	C	,,	1675,2723		325,1025,849	24	22	23		,,1563	0.9	0.1	22	dbSNP_120	23	2935,5665		512,1911,1877	no	utr-3,utr-3,coding-synonymous	PPIL2	NM_014337.3,NM_148175.2,NM_148176.2	,,	837,2936,2726	TT,TC,CC		34.1279,38.0855,35.467	,,	,,521/528	22049783	4610,8388	2199	4300	6499	SO:0001628	intergenic_variant	23759	exon20			TAGCAGCAGGTTG	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"yippee (Drosophila) homolog-like 1"			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22049783C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	207	95	0.458937	NM_148176	Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	CCDS13794.1	846	0.3873626373626374	206	0.4186991869918699	133	0.3674033149171271	263	0.4597902097902098	244	0.32189973614775724	C	15.10	2.732309	0.48939	0.380855	0.341279	ENSG00000100023	ENST00000456792	T	0.25085	1.82	3.28	0.931	0.19460	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.39086	P	0.038999000000000006	B	0.26935	0.164	B	0.17433	0.018	T	0.47032	-0.9148	7	0.37606	T	0.19	.	11.6688	0.51389	0.0:0.6561:0.3439:0.0	rs12484060;rs12484060	467	E7EW80	.	V	467	ENSP00000396228:A467V	ENSP00000396228:A467V	A	+	2	0	PPIL2	20379783	0.015000	0.18098	0.080000	0.20451	0.572000	0.35998	0.725000	0.25970	0.196000	0.20367	0.558000	0.71614	GCA	C|0.616;T|0.384	0.384	strong		0.607	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		T	22049783	C	T	22049783	1	4	22	0	1	0	0	0	0	0	0	0	12327	709	25	2		2	PPIL2	22	22049783	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58559	22049783	29254783	10840	15948										
MAPK1	5594	hgsc.bcm.edu	37	chr22	22162126	22162126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgaactttgttgacattatcAtaagcagagcttaaaaaaga	7	6	1	3	rs3729910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:22162126A>G	ENST00000215832.6	-	2	317	c.129T>C	c.(127-129)taT>taC	p.Y43Y	MAPK1_ENST00000398822.3_Silent_p.Y43Y|MAPK1_ENST00000544786.1_Silent_p.Y43Y	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TGACATTATCATAAGCAGAGC	0.383													A|||	153	0.0305511	0.0174	0.0461	5008	,	,		20863	0.0238		0.0537	False		,,,				2504	0.0204				p.Y43Y		Atlas-SNP	.											.	MAPK1	38	.	0			c.T129C						PASS	.	A	,	95,4311	76.8+/-115.0	1,93,2109	96	97	97		129,129	4.5	1	22	dbSNP_107	97	522,8078	146.2+/-201.8	18,486,3796	no	coding-synonymous,coding-synonymous	MAPK1	NM_002745.4,NM_138957.2	,	19,579,5905	GG,GA,AA		6.0698,2.1562,4.744	,	43/361,43/361	22162126	617,12389	2203	4300	6503	SO:0001819	synonymous_variant	5594	exon2			ATTATCATAAGCA	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.129T>C	22.37:g.22162126A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	69	37	0.536232	NM_002745	A8CZ64	Silent	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																			A|0.955;G|0.045	0.045	strong		0.383	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			G	22162126	A	G	22162126	2	3	22	1	0	0	0	0	0	0	0	1	9271	224	8	2		2	MAPK1	22	22162126	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	112343	22162126	29142440	10841	15949										
ZNF280B	140883	hgsc.bcm.edu	37	chr22	22842484	22842484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttctacatcagcaaagaCcgacgatctataatggcaaa	7	9	3	1	rs57235089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:22842484C>T	ENST00000406426.1	-	4	1982	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	ZNF280B_ENST00000360412.2_Missense_Mutation_p.V414I			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCAGCAAAGACCGACGATCTA	0.403													C|||	151	0.0301518	0.0877	0.0072	5008	,	,		19574	0.0		0.0099	False		,,,				2504	0.0204				p.V414I		Atlas-SNP	.											.	ZNF280B	67	.	0			c.G1240A						PASS	.	C	ILE/VAL	339,4067	176.9+/-206.0	15,309,1879	131	122	125		1240	-1.6	0	22	dbSNP_129	125	106,8494	56.0+/-117.1	2,102,4196	no	missense	ZNF280B	NM_080764.2	29	17,411,6075	TT,TC,CC		1.2326,7.6941,3.4215	benign	414/544	22842484	445,12561	2203	4300	6503	SO:0001583	missense	140883	exon4			CAAAGACCGACGA	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1240G>A	22.37:g.22842484C>T	ENSP00000385998:p.Val414Ile	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	266	110	0.413534	NM_080764		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	38	0.0173992673992674	26	0.052845528455284556	3	0.008287292817679558	0	0.0	9	0.011873350923482849	C	0.005	-2.182245	0.00308	0.076941	0.012326	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.28069	1.63;1.63	4.32	-1.63	0.08345	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.00695	0.0023	N	0.25890	0.77	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.24764	-1.0151	9	0.06625	T	0.88	5.8306	4.7941	0.13263	0.4233:0.4085:0.0:0.1682	rs57235089;rs61910698	414	Q86YH2	Z280B_HUMAN	I	414	ENSP00000385998:V414I;ENSP00000353586:V414I	ENSP00000353586:V414I	V	-	1	0	ZNF280B	21172484	0.945000	0.32115	0.000000	0.03702	0.099000	0.18886	2.087000	0.41653	-0.168000	0.10853	-0.152000	0.13540	GTC	C|0.973;T|0.027	0.027	strong		0.403	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842484	C	T	22842484	3	4	22	1	0	0	0	0	1	0	0	0	17812	507	18	2	395	2	ZNF280B	22	22842484	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	680358	22842484	28462082	10842	15950										
GGTLC2	91227	hgsc.bcm.edu	37	chr22	22989237	22989237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggtagctttggctccaagGtccgctccccggtcagcgag	14	14	1	0	rs60008056	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:22989237G>A	ENST00000480559.1	+	2	190	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	GGTLC2_ENST00000448514.1_Missense_Mutation_p.V64I|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	64					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGGCTCCAAGGTCCGCTCCCC	0.582													.|||	207	0.0413339	0.1369	0.0173	5008	,	,		9662	0.0		0.0119	False		,,,				2504	0.002				p.V64I		Atlas-SNP	.											.	GGTLC2	20	.	0			c.G190A						PASS	.	G	ILE/VAL	562,3844	247.5+/-255.7	40,482,1681	53	57	56		190		0	22	dbSNP_129	56	84,8510	47.6+/-106.9	1,82,4214	no	missense	GGTLC2	NM_199127.2	29	41,564,5895	AA,AG,GG		0.9774,12.7553,4.9692	possibly-damaging	64/219	22989237	646,12354	2203	4297	6500	SO:0001583	missense	91227	exon2			TCCAAGGTCCGCT	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.190G>A	22.37:g.22989237G>A	ENSP00000419751:p.Val64Ile	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	262	122	0.465649	NM_199127	A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	CCDS13802.2	101	0.04624542124542125	84	0.17073170731707318	6	0.016574585635359115	0	0.0	11	0.014511873350923483	g	8.048	0.765267	0.15914	0.127553	0.009774	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.08282	3.11;3.11	.	.	.	.	0.210063	0.39615	N	0.001304	T	0.00039	0.0001	L	0.39326	1.205	0.31416	P	0.6748419999999999	B;B	0.27700	0.045;0.186	B;B	0.39935	0.104;0.314	T	0.41945	-0.9480	8	0.23891	T	0.37	-50.9151	5.8178	0.18506	0.001:0.0:0.999:0.0	rs60008056	64;64	Q14390;B7WND7	GGTL2_HUMAN;.	I	64	ENSP00000419751:V64I;ENSP00000415676:V64I	ENSP00000415676:V64I	V	+	1	0	GGTLC2	21319237	0.995000	0.38212	0.000000	0.03702	0.000000	0.00434	3.240000	0.51368	-0.000000	0.14550	0.000000	0.15137	GTC	G|0.952;A|0.048	0.048	strong		0.582	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		A	22989237	G	A	22989237	3	1	22	1	0	0	0	0	1	0	0	0	6366	1261	44	2	196	2	GGTLC2	22	22989237	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	146753	22989237	28315329	10843	15951										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230300	23230300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggccctggtcccaggcagCgctggcccctgctgctgctg	15	16	0	0	rs382768	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:23230300C>T	ENST00000526893.1	+	1	341	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	IGLL5_ENST00000531372.1_Missense_Mutation_p.R23C|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.R23C	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	23						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCCCAGGCAGCGCTGGCCCCT	0.672													C|||	379	0.0756789	0.2027	0.0476	5008	,	,		12770	0.0		0.0348	False		,,,				2504	0.044				p.R23C		Atlas-SNP	.											.	IGLL5	26	.	0			c.C67T						PASS	.																																			SO:0001583	missense	100423062	exon1			AGGCAGCGCTGGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.67C>T	22.37:g.23230300C>T	ENSP00000431254:p.Arg23Cys	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	172	80	0.465116	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	115	0.052655677655677656	76	0.15447154471544716	14	0.03867403314917127	0	0.0	25	0.032981530343007916	C	7.897	0.733599	0.15574	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00569	6.52;6.52	3.25	-6.5	0.01884	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44452	-0.9327	8	0.62326	D	0.03	.	3.5729	0.07923	0.1077:0.2861:0.1068:0.4995	rs382768	23	B9A064	IGLL5_HUMAN	C	23	ENSP00000436353:R23C;ENSP00000431254:R23C	ENSP00000431254:R23C	R	+	1	0	IGLL5	21560300	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.259000	0.00536	-2.722000	0.00388	-1.790000	0.00627	CGC	C|0.947;T|0.053	0.053	strong		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230300	C	T	23230300	3	4	22	1	0	0	0	0	1	0	0	0	7594	768	27	1	69	1	IGLL5	22	23230300	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	241063	23230300	28074266	10844	15952										
BCR	613	hgsc.bcm.edu	37	chr22	23651650	23651650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggacagagactggcagcgcAccgtcatcgccatgaatggg	14	11	1	2			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:23651650A>G	ENST00000305877.8	+	17	3803	c.3052A>G	c.(3052-3054)Acc>Gcc	p.T1018A	BCR_ENST00000359540.3_Missense_Mutation_p.T974A	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1018					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CTGGCAGCGCACCGTCATCGC	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																p.T1018A		Atlas-SNP	.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	BCR,NS,carcinoma,0,1	BCR	74	1	0			c.A3052G						scavenged	.						33	25	28					22																	23651650		2201	4300	6501	SO:0001583	missense	613	exon17			CAGCGCACCGTCA		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3052A>G	22.37:g.23651650A>G	ENSP00000303507:p.Thr1018Ala	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	294	108	0.367347	NM_004327	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566244	0.13560	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.39787	1.06;1.8	4.7	2.52	0.30459	C2 calcium/lipid-binding domain, CaLB (1);	0.051625	0.85682	D	0.000000	T	0.28067	0.0692	L	0.44542	1.39	0.80722	D	1	B;B;B	0.22909	0.077;0.059;0.077	B;B;B	0.26614	0.071;0.039;0.044	T	0.04203	-1.0969	10	0.12430	T	0.62	.	4.6914	0.12783	0.6936:0.0:0.1642:0.1422	.	607;974;1018	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	A	1018;974;683	ENSP00000303507:T1018A;ENSP00000352535:T974A	ENSP00000303507:T1018A	T	+	1	0	BCR	21981650	1.000000	0.71417	0.512000	0.27736	0.011000	0.07611	4.359000	0.59449	0.765000	0.33221	-0.991000	0.02546	ACC	A|0.500;G|0.500	0.500	weak		0.607	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		G	23651650	A	G	23651650	3	3	22	1	0	0	0	0	1	0	0	0	1388	159	6	2	3118	2	BCR	22	23651650	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	421350	23651650	27652916	10845	15953										
IGLL1	3543	hgsc.bcm.edu	37	chr22	23917176	23917176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacggtgagctgggtcccGctgccaaacacatgcgtcac	11	13	1	1	rs115303391	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:23917176G>A	ENST00000330377.2	-	2	417	c.300C>T	c.(298-300)agC>agT	p.S100S	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	100	J region (By similarity to lambda light- chain).				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCTGGGTCCCGCTGCCAAACA	0.577													g|||	176	0.0351438	0.1263	0.0115	5008	,	,		17917	0.0		0.001	False		,,,				2504	0.0				p.S100S		Atlas-SNP	.											.	IGLL1	27	.	0			c.C300T						PASS	.	G	,	537,3869		35,467,1701	70	59	63		300,	-3.2	0	22	dbSNP_132	63	11,8589		0,11,4289	no	coding-synonymous,intron	IGLL1	NM_020070.2,NM_152855.1	,	35,478,5990	AA,AG,GG		0.1279,12.1879,4.2134	,	100/214,	23917176	548,12458	2203	4300	6503	SO:0001819	synonymous_variant	3543	exon2			GGTCCCGCTGCCA	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.300C>T	22.37:g.23917176G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	154	72	0.467532	NM_020070	Q0P681	Silent	SNP	ENST00000330377.2	37	CCDS13809.1																																																																																			G|0.965;A|0.035	0.035	strong		0.577	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		A	23917176	G	A	23917176	2	1	22	1	0	0	0	0	0	0	0	1	7593	1078	38	1		1	IGLL1	22	23917176	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	265526	23917176	27387390	10846	15954										
IGLL1	3543	hgsc.bcm.edu	37	chr22	23922281	23922281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcaggccatgggttaccaCggccagacccagcagcagca	12	15	0	1	rs116760479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:23922281C>T	ENST00000330377.2	-	1	214	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	KB-208E9.1_ENST00000608615.1_lincRNA|IGLL1_ENST00000249053.3_Missense_Mutation_p.V33M	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	33					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGGGTTACCACGGCCAGACCC	0.721													C|||	190	0.0379393	0.0953	0.013	5008	,	,		14290	0.0		0.0119	False		,,,				2504	0.044				p.V33M		Atlas-SNP	.											.	IGLL1	27	.	0			c.G97A						PASS	.	C	MET/VAL,MET/VAL	323,4029		7,309,1860	7	8	8		97,97	-2.2	0	22	dbSNP_132	8	121,8377		0,121,4128	yes	missense,missense	IGLL1	NM_020070.2,NM_152855.1	21,21	7,430,5988	TT,TC,CC		1.4239,7.4219,3.4553	possibly-damaging,possibly-damaging	33/214,33/85	23922281	444,12406	2176	4249	6425	SO:0001583	missense	3543	exon1			TTACCACGGCCAG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.97G>A	22.37:g.23922281C>T	ENSP00000329312:p.Val33Met	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	89	33	0.370787	NM_020070	Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	CCDS13809.1	45	0.020604395604395604	31	0.06300813008130081	7	0.019337016574585635	0	0.0	7	0.009234828496042216	c	0.200	-1.045357	0.01997	0.074219	0.014239	ENSG00000128322	ENST00000249053;ENST00000330377;ENST00000438703	T;T	0.00902	6.87;5.56	1.78	-2.18	0.07037	.	.	.	.	.	T	0.00039	0.0001	N	0.12182	0.205	0.09310	N	1	B;B	0.24768	0.025;0.111	B;B	0.14023	0.01;0.01	T	0.40813	-0.9543	9	0.05721	T	0.95	.	3.5367	0.07796	0.0:0.3802:0.1991:0.4207	.	33;33	Q0P681;P15814	.;IGLL1_HUMAN	M	33	ENSP00000329312:V33M;ENSP00000403391:V33M	ENSP00000249053:V33M	V	-	1	0	IGLL1	22252281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.444000	0.06854	-0.496000	0.06650	-2.956000	0.00083	GTG	C|0.980;T|0.020	0.020	strong		0.721	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		T	23922281	C	T	23922281	3	4	22	1	0	0	0	0	1	0	0	0	7593	536	19	1	556	1	IGLL1	22	23922281	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5105	23922281	27382285	10847	15955										
C22orf43	51233	hgsc.bcm.edu	37	chr22	23974200	23974200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttgatacaacaggtcagtAtattccccatggggcctctc	9	11	2	1	rs3827318	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:23974200A>G	ENST00000317749.5	-	1	308	c.11T>C	c.(10-12)aTa>aCa	p.I4T	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		4			I -> T (in dbSNP:rs3827318).							endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ACAGGTCAGTATATTCCCCAT	0.547													A|||	822	0.164137	0.1785	0.1383	5008	,	,		17295	0.2371		0.1133	False		,,,				2504	0.1401				p.I4T		Atlas-SNP	.											.	C22orf43	18	.	0			c.T11C						PASS	.	A	THR/ILE	666,3202		59,548,1327	66	65	65		11	0.1	0	22	dbSNP_107	65	935,7319		55,825,3247	yes	missense	C22orf43	NM_016449.3	89	114,1373,4574	GG,GA,AA		11.3278,17.2182,13.2074	probably-damaging	4/230	23974200	1601,10521	1934	4127	6061	SO:0001583	missense	51233	exon1			GTCAGTATATTCC																												ENST00000317749.5:c.11T>C	22.37:g.23974200A>G	ENSP00000316137:p.Ile4Thr	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	209	95	0.454545	NM_016449	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	350	0.16025641025641027	80	0.16260162601626016	47	0.1298342541436464	124	0.21678321678321677	99	0.13060686015831136	a	2.546	-0.305118	0.05495	0.172182	0.113278	ENSG00000189269	ENST00000317749	T	0.29917	1.55	0.14	0.14	0.14804	.	.	.	.	.	T	0.00012	0.0000	N	0.04880	-0.145	0.80722	P	0.0	P	0.47106	0.89	P	0.52554	0.702	T	0.07028	-1.0794	7	0.09084	T	0.74	.	.	.	.	rs3827318;rs17002925;rs52826285;rs58693816;rs3827318	4	Q6PGQ1	CV043_HUMAN	T	4	ENSP00000316137:I4T	ENSP00000316137:I4T	I	-	2	0	C22orf43	22304200	0.021000	0.18746	0.018000	0.16275	0.018000	0.09664	0.238000	0.18004	0.157000	0.19338	0.155000	0.16302	ATA	A|0.842;G|0.156	0.156	strong		0.547	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			G	23974200	A	G	23974200	3	3	22	1	0	0	0	0	1	0	0	0	2150	449	16	2	726	2	C22orf43	22	23974200	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51919	23974200	27330366	10848	15956										
RGL4	266747	hgsc.bcm.edu	37	chr22	24034288	24034288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgtacagtgctgtgctccAgggcctttgggaagagaatg	16	7	0	1	rs738786	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24034288A>G	ENST00000290691.5	+	1	1241	c.71A>G	c.(70-72)cAg>cGg	p.Q24R	KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	24			Q -> R (in dbSNP:rs738786). {ECO:0000269|PubMed:15489334}.		small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTGTGCTCCAGGGCCTTTGG	0.592													a|||	2755	0.55012	0.4372	0.6167	5008	,	,		17897	0.6071		0.5328	False		,,,				2504	0.6145				p.Q24R		Atlas-SNP	.											.	RGL4	29	.	0			c.A71G						PASS	.	A	ARG/GLN	1974,2432	554.0+/-378.9	465,1044,694	88	85	86		71	-0.7	0	22	dbSNP_86	86	4432,4168	587.2+/-392.2	1145,2142,1013	yes	missense	RGL4	NM_153615.1	43	1610,3186,1707	GG,GA,AA		48.4651,44.8025,49.2542	benign	24/474	24034288	6406,6600	2203	4300	6503	SO:0001583	missense	266747	exon1			TGCTCCAGGGCCT		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.71A>G	22.37:g.24034288A>G	ENSP00000290691:p.Gln24Arg	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_153615	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	1198	0.5485347985347986	225	0.4573170731707317	204	0.56353591160221	350	0.6118881118881119	419	0.5527704485488126	a	8.519	0.868317	0.17250	0.448025	0.515349	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.29655	1.56;1.56	1.77	-0.665	0.11403	.	0.217217	0.22467	U	0.059673	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	P;P	0.39094	0.618;0.659	B;B	0.42959	0.027;0.403	T	0.38628	-0.9652	9	0.05959	T	0.93	.	2.363	0.04312	0.3523:0.4384:0.0:0.2093	rs738786;rs58826212;rs738786	24;24	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	R	24	ENSP00000290691:Q24R;ENSP00000402142:Q24R	ENSP00000290691:Q24R	Q	+	2	0	RGL4	22364288	0.490000	0.26012	0.000000	0.03702	0.005000	0.04900	-0.294000	0.08309	-0.151000	0.11176	0.443000	0.29094	CAG	A|0.483;G|0.517	0.517	strong		0.592	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		G	24034288	A	G	24034288	3	3	22	1	0	0	0	0	1	0	0	0	13279	188	7	3	73	3	RGL4	22	24034288	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60088	24034288	27270278	10849	15957										
ZNF70	7621	hgsc.bcm.edu	37	chr22	24087319	24087319	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaaactttgttgctgggggAacctccattgtgaatctgct	10	10	1	1	rs2070451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24087319A>C	ENST00000341976.3	-	2	469	c.9T>G	c.(7-9)gtT>gtG	p.V3V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTGCTGGGGGAACCTCCATTG	0.443													A|||	832	0.166134	0.1732	0.1225	5008	,	,		19789	0.2966		0.1034	False		,,,				2504	0.1176				p.V3V		Atlas-SNP	.											.	ZNF70	49	.	0			c.T9G						PASS	.	A		794,3612	306.9+/-289.7	71,652,1480	77	77	77		9	1.1	0.7	22	dbSNP_96	77	802,7798	181.8+/-230.4	46,710,3544	no	coding-synonymous	ZNF70	NM_021916.2		117,1362,5024	CC,CA,AA		9.3256,18.0209,12.2713		3/447	24087319	1596,11410	2203	4300	6503	SO:0001819	synonymous_variant	7621	exon2			TGGGGGAACCTCC	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.9T>G	22.37:g.24087319A>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	120	64	0.533333	NM_021916		Silent	SNP	ENST00000341976.3	37	CCDS13812.1																																																																																			A|0.865;C|0.135	0.135	strong		0.443	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		C	24087319	A	C	24087319	2	2	22	1	0	0	0	0	0	0	0	1	18100	233	9	5		5	ZNF70	22	24087319	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53031	24087319	27217247	10850	15958										
CHCHD10	400916	hgsc.bcm.edu	37	chr22	24108438	24108438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagggccccatctgcagggGctggggggcagcgggggtgg	23	10	1	0	rs111677724	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24108438G>T	ENST00000484558.2	-	3	854	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	CHCHD10_ENST00000401675.3_Missense_Mutation_p.P103T|CHCHD10_ENST00000520222.1_Missense_Mutation_p.S22R			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	96	CHCH.				ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3						ATCTGCAGGGGCTGGGGGGCA	0.652													G|||	296	0.0591054	0.2141	0.0173	5008	,	,		6897	0.0		0.001	False		,,,				2504	0.0				p.P96T		Atlas-SNP	.											.	CHCHD10	4	.	0			c.C286A						PASS	.	G	THR/PRO	764,3590		66,632,1479	8	6	7		286	4.2	0.4	22	dbSNP_132	7	10,8454		0,10,4222	no	missense	CHCHD10	NM_213720.1	38	66,642,5701	TT,TG,GG		0.1181,17.5471,6.0384	possibly-damaging	96/143	24108438	774,12044	2177	4232	6409	SO:0001583	missense	400916	exon3			GCAGGGGCTGGGG	AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"Coiled-coil-helix-coiled-coil-helix domain containing"	15559	protein-coding gene	gene with protein product		615903	"chromosome 22 open reading frame 16"	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.286C>A	22.37:g.24108438G>T	ENSP00000418428:p.Pro96Thr	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_213720	A8K0J5	Missense_Mutation	SNP	ENST00000484558.2	37	CCDS13815.1	92|92	0.04212454212454213|0.04212454212454213	87|87	0.17682926829268292|0.17682926829268292	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.64|17.64	3.440254|3.440254	0.63067|0.63067	0.175471|0.175471	0.001181|0.001181	ENSG00000250479|ENSG00000250479	ENST00000401675;ENST00000484558|ENST00000520222	T;T|.	0.42131|.	0.98;0.98|.	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	0.257192|.	0.31134|.	N|.	0.008183|.	T|T	0.00210|0.00210	0.0006|0.0006	L|L	0.40543|0.40543	1.245|1.245	0.18873|0.18873	P|P	0.9999844086|0.9999844086	P|.	0.47762|.	0.9|.	B|.	0.39419|.	0.299|.	T|T	0.13791|0.13791	-1.0496|-1.0496	9|5	0.20519|0.87932	T|D	0.43|0	-10.8797|-10.8797	14.7977|14.7977	0.69889|0.69889	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96|.	Q8WYQ3|.	CHC10_HUMAN|.	T|R	103;96|22	ENSP00000384973:P103T;ENSP00000418428:P96T|.	ENSP00000384973:P103T|ENSP00000430042:S22R	P|S	-|-	1|3	0|2	CHCHD10|CHCHD10	22438438|22438438	1.000000|1.000000	0.71417|0.71417	0.380000|0.380000	0.26093|0.26093	0.805000|0.805000	0.45488|0.45488	4.807000|4.807000	0.62576|0.62576	2.253000|2.253000	0.74438|0.74438	0.485000|0.485000	0.47835|0.47835	CCC|AGC	G|0.957;T|0.043	0.043	strong		0.652	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2	NM_213720		T	24108438	G	T	24108438	3	4	22	1	0	0	0	0	1	0	0	0	3315	1203	42	4	150	4	CHCHD10	22	24108438	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21119	24108438	27196128	10851	15959										
MMP11	4320	hgsc.bcm.edu	37	chr22	24124471	24124471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggccccgcacccctcacCgagctgggcctggtgaggtt	14	16	1	1	rs28382569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24124471C>A	ENST00000215743.3	+	7	1186	c.1134C>A	c.(1132-1134)acC>acA	p.T378T	AP000349.1_ENST00000598975.1_Missense_Mutation_p.R248L	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	378					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	cacccctcaccgagctGGGCC	0.632													C|||	54	0.0107827	0.0371	0.0029	5008	,	,		18519	0.0		0.003	False		,,,				2504	0.0				p.T378T		Atlas-SNP	.											.	MMP11	53	.	0			c.C1134A						PASS	.	C		168,4238	112.1+/-150.2	5,158,2040	59	57	58		1134	-2.9	0.6	22	dbSNP_125	58	0,8600		0,0,4300	no	coding-synonymous	MMP11	NM_005940.3		5,158,6340	AA,AC,CC		0.0,3.813,1.2917		378/489	24124471	168,12838	2203	4300	6503	SO:0001819	synonymous_variant	4320	exon7			CCTCACCGAGCTG		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1134C>A	22.37:g.24124471C>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	46	0.547619	NM_005940	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	CCDS13816.1																																																																																			A|0.014;C|0.986	0.014	strong		0.632	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		A	24124471	C	A	24124471	2	1	22	1	0	0	0	0	0	0	0	1	9650	639	23	4		4	MMP11	22	24124471	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16033	24124471	27180095	10852	15960										
DERL3	91319	hgsc.bcm.edu	37	chr22	24179132	24179132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattggggtcttctgcagggGcatccaggagcagctttctg	14	9	3	0	rs1128127	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24179132G>A	ENST00000318109.7	-	7	648	c.632C>T	c.(631-633)gCc>gTc	p.A211V	DERL3_ENST00000404056.1_3'UTR|DERL3_ENST00000406855.3_Intron|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_3'UTR			Q96Q80	DERL3_HUMAN	derlin 3	211			A -> V (in dbSNP:rs1128127). {ECO:0000269|PubMed:14702039}.		endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						TTCTGCAGGGGCATCCAGGAG	0.667													G|||	1311	0.261781	0.5446	0.1153	5008	,	,		14544	0.0923		0.1322	False		,,,				2504	0.2914				p.A211V		Atlas-SNP	.											.	DERL3	14	.	0			c.C632T						PASS	.	G	VAL/ALA,,	2009,2395		465,1079,658	27	27	27		632,,	2.3	1	22	dbSNP_86	27	1080,7514		70,940,3287	yes	missense,intron,utr-3	DERL3	NM_001002862.2,NM_001135751.1,NM_198440.3	64,,	535,2019,3945	AA,AG,GG		12.5669,45.6176,23.7652	,,	211/236,,	24179132	3089,9909	2202	4297	6499	SO:0001583	missense	91319	exon7			GCAGGGGCATCCA	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.632C>T	22.37:g.24179132G>A	ENSP00000315303:p.Ala211Val	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	316	168	0.531646	NM_001002862	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	CCDS33615.1	442	0.20238095238095238	256	0.5203252032520326	46	0.1270718232044199	41	0.07167832167832168	99	0.13060686015831136	G	14.11	2.437021	0.43224	0.456176	0.125669	ENSG00000099958	ENST00000318109	T	0.23552	1.9	4.95	2.31	0.28768	.	3.136180	0.01583	N	0.021208	T	0.00012	0.0000	N	0.14661	0.345	0.09310	P	0.9999999999839997	P;B	0.47910	0.902;0.007	B;B	0.41510	0.359;0.006	T	0.46748	-0.9169	9	0.30078	T	0.28	.	11.4419	0.50102	0.0:0.0:0.5558:0.4442	rs1128127;rs3177244;rs3184722;rs11543134;rs17408362;rs52811884;rs59644953;rs1128127	201;211	Q96Q80-4;Q96Q80	.;DERL3_HUMAN	V	211	ENSP00000315303:A211V	ENSP00000315303:A211V	A	-	2	0	DERL3	22509132	0.535000	0.26370	0.954000	0.39281	0.983000	0.72400	2.869000	0.48444	0.305000	0.22832	0.650000	0.86243	GCC	G|0.750;A|0.250	0.250	strong		0.667	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		A	24179132	G	A	24179132	3	1	22	1	0	0	0	0	1	0	0	0	4448	1203	42	2	189	2	DERL3	22	24179132	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54661	24179132	27125434	10853	15961										
SLC2A11	66035	hgsc.bcm.edu	37	chr22	24199704	24199704	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaactggagccgtccttaCggcctcggacgcaggtgagc	14	12	0	2	rs16986337	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24199704C>T	ENST00000345044.6	+	1	289				SLC2A11_ENST00000398356.2_Missense_Mutation_p.R10W|SLC2A11_ENST00000403208.3_Intron|SLC2A11_ENST00000405847.1_Intron|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_5'Flank|KB-1125A3.11_ENST00000609825.1_RNA			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11						carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GCCGTCCTTACGGCCTCGGAC	0.687													C|||	473	0.0944489	0.298	0.0634	5008	,	,		10106	0.0		0.0298	False		,,,				2504	0.0051				p.R10W		Atlas-SNP	.											.	SLC2A11	32	.	0			c.C28T						PASS	.	C	,TRP/ARG	1204,3202	403.3+/-332.7	178,848,1177	31	35	33		,28	0.8	0	22	dbSNP_123	33	267,8333	99.3+/-160.8	6,255,4039	yes	intron,missense	SLC2A11	NM_001024938.2,NM_030807.3	,101	184,1103,5216	TT,TC,CC		3.1047,27.3264,11.3102	,	,10/504	24199704	1471,11535	2203	4300	6503	SO:0001627	intron_variant	66035	exon2			TCCTTACGGCCTC	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.21+526C>T	22.37:g.24199704C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_030807	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	179	0.08195970695970696	135	0.27439024390243905	26	0.0718232044198895	0	0.0	18	0.023746701846965697	C	13.09	2.132060	0.37630	0.273264	0.031047	ENSG00000133460	ENST00000398356;ENST00000398359;ENST00000407566	T	0.79247	-1.25	2.98	0.754	0.18410	.	5.998850	0.00559	N	0.000274	T	0.00039	0.0001	L	0.38175	1.15	0.58432	P	5.000000000032756E-6	D;D;D	0.69078	0.995;0.993;0.997	P;B;B	0.53722	0.733;0.296;0.332	T	0.07673	-1.0760	9	0.72032	D	0.01	.	3.539	0.07804	0.2465:0.6161:0.0:0.1374	rs16986337;rs52815520;rs16986337	10;10;10	E7ENI4;E9PH55;Q6P4C1	.;.;.	W	10	ENSP00000381399:R10W	ENSP00000381399:R10W	R	+	1	2	SLC2A11	22529704	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.118000	0.10692	0.284000	0.22305	0.650000	0.86243	CGG	C|0.885;T|0.115	0.115	strong		0.687	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		T	24199704	C	T	24199704	1	4	22	0	1	0	0	0	0	0	0	0	14540	527	19	1		1	SLC2A11	22	24199704	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	20572	24199704	27104862	10854	15962										
SLC2A11	66035	hgsc.bcm.edu	37	chr22	24226890	24226890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtgtctgtgtctgtgggGccatctacactggcctgttc	13	10	3	0	rs60699980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24226890G>A	ENST00000345044.6	+	12	1613	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	SLC2A11_ENST00000398356.2_Missense_Mutation_p.A456T|SLC2A11_ENST00000316185.8_Missense_Mutation_p.A452T|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	449					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGTCTGTGGGGCCATCTACAC	0.542													G|||	149	0.0297524	0.062	0.0418	5008	,	,		19200	0.0		0.0318	False		,,,				2504	0.0061				p.A456T		Atlas-SNP	.											.	SLC2A11	32	.	0			c.G1366A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	206,4200	127.4+/-164.3	5,196,2002	191	173	179		1345,1354,1366	1.1	0	22	dbSNP_129	179	247,8353	97.5+/-159.1	2,243,4055	yes	missense,missense,missense	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	58,58,58	7,439,6057	AA,AG,GG		2.8721,4.6754,3.483	probably-damaging,probably-damaging,probably-damaging	449/497,452/500,456/504	24226890	453,12553	2203	4300	6503	SO:0001583	missense	66035	exon13			TGTGGGGCCATCT	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1345G>A	22.37:g.24226890G>A	ENSP00000342542:p.Ala449Thr	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	234	109	0.465812	NM_030807	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	74|74	0.03388278388278388|0.03388278388278388	37|37	0.07520325203252033|0.07520325203252033	15|15	0.04143646408839779|0.04143646408839779	0|0	0.0|0.0	22|22	0.029023746701846966|0.029023746701846966	G|G	15.77|15.77	2.930418|2.930418	0.52866|0.52866	0.046754|0.046754	0.028721|0.028721	ENSG00000133460|ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185|ENST00000407566	T;T;T|.	0.73258|.	-0.73;-0.73;-0.73|.	3.25|3.25	1.12|1.12	0.20585|0.20585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.243635|.	0.40302|.	N|.	0.001125|.	T|T	0.04137|0.04137	0.0115|0.0115	L|L	0.41492|0.41492	1.28|1.28	0.33433|0.33433	D|D	0.581396|0.581396	D;B;D|.	0.67145|.	0.996;0.236;0.996|.	D;B;D|.	0.70487|.	0.948;0.374;0.969|.	T|T	0.43032|0.43032	-0.9416|-0.9416	10|6	0.16420|0.62326	T|D	0.52|0.03	.|.	8.7562|8.7562	0.34648|0.34648	0.2007:0.0:0.7993:0.0|0.2007:0.0:0.7993:0.0	rs60699980|rs60699980	452;449;456|.	Q9BYW1-3;Q9BYW1;E9PH55|.	.;GTR11_HUMAN;.|.	T|D	449;456;452|455	ENSP00000342542:A449T;ENSP00000381399:A456T;ENSP00000326748:A452T|.	ENSP00000326748:A452T|ENSP00000386027:G455D	A|G	+|+	1|2	0|0	SLC2A11|SLC2A11	22556890|22556890	0.998000|0.998000	0.40836|0.40836	0.013000|0.013000	0.15412|0.15412	0.954000|0.954000	0.61252|0.61252	4.259000|4.259000	0.58828|0.58828	0.407000|0.407000	0.25591|0.25591	-0.216000|-0.216000	0.12614|0.12614	GCC|GGC	G|0.966;A|0.034	0.034	strong		0.542	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		A	24226890	G	A	24226890	3	1	22	1	0	0	0	0	1	0	0	0	14540	1203	42	2	1471	2	SLC2A11	22	24226890	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27186	24226890	27077676	10855	15963										
GGT5	2687	hgsc.bcm.edu	37	chr22	24622124	24622124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggacgtgcctgtcccgtgGccccaggcctcggccaagct	14	16	0	0	rs73879043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24622124G>A	ENST00000327365.4	-	8	1565	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	GGT5_ENST00000398292.3_Silent_p.G383G|GGT5_ENST00000418439.2_Silent_p.G306G|GGT5_ENST00000263112.7_Silent_p.G351G	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	383					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CTGTCCCGTGGCCCCAGGCCT	0.687													G|||	101	0.0201677	0.0711	0.0101	5008	,	,		14159	0.0		0.0	False		,,,				2504	0.0				p.G383G		Atlas-SNP	.											.	GGT5	61	.	0			c.C1149T						PASS	.	G	,,	236,4170	131.8+/-168.3	6,224,1973	30	32	31		1149,1053,1149	1.6	0.1	22	dbSNP_130	31	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	,,	6,224,6271	AA,AG,GG		0.0,5.3563,1.8151	,,	383/588,351/555,383/587	24622124	236,12766	2203	4298	6501	SO:0001819	synonymous_variant	2687	exon8			CCCGTGGCCCCAG	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1149C>T	22.37:g.24622124G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	101	54	0.534653	NM_001099781	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	CCDS13825.1																																																																																			G|0.981;A|0.019	0.019	strong		0.687	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		A	24622124	G	A	24622124	2	1	22	1	0	0	0	0	0	0	0	1	6362	1190	42	2		2	GGT5	22	24622124	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	395234	24622124	26682442	10856	15964										
GGT5	2687	hgsc.bcm.edu	37	chr22	24628928	24628928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagggcaggcggccatgGcggcggtgggcctcggcata	19	13	0	0	rs762276	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24628928G>A	ENST00000327365.4	-	4	875	c.459C>T	c.(457-459)cgC>cgT	p.R153R	GGT5_ENST00000263112.7_Silent_p.R121R|GGT5_ENST00000418439.2_Missense_Mutation_p.P78S|GGT5_ENST00000398292.3_Silent_p.R153R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	153					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGCGGCCATGGCGGCGGTGGG	0.701													G|||	639	0.127596	0.0197	0.1888	5008	,	,		13019	0.1746		0.1571	False		,,,				2504	0.1513				p.R153R		Atlas-SNP	.											.	GGT5	61	.	0			c.C459T						PASS	.	G	,,	213,4145		9,195,1975	18	21	20		459,363,459	2.4	1	22	dbSNP_86	20	1070,7426		54,962,3232	no	coding-synonymous,coding-synonymous,coding-synonymous	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	,,	63,1157,5207	AA,AG,GG		12.5942,4.8876,9.9813	,,	153/588,121/555,153/587	24628928	1283,11571	2179	4248	6427	SO:0001819	synonymous_variant	2687	exon4			GCCATGGCGGCGG	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.459C>T	22.37:g.24628928G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	43	26	0.604651	NM_001099781	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	CCDS13825.1	294	0.1346153846153846	12	0.024390243902439025	68	0.1878453038674033	103	0.18006993006993008	111	0.14643799472295516	G	15.59	2.879364	0.51801	0.048876	0.125942	ENSG00000099998	ENST00000418439	T	0.19938	2.11	4.51	2.36	0.29203	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.45806	P	0.0013119999999999798	B	0.14438	0.01	B	0.10450	0.005	T	0.24368	-1.0162	7	0.72032	D	0.01	-40.7365	3.3668	0.07206	0.0949:0.1713:0.557:0.1767	rs762276	78	E7EUG3	.	S	78	ENSP00000392146:P78S	ENSP00000392146:P78S	P	-	1	0	GGT5	22958928	0.009000	0.17119	1.000000	0.80357	0.947000	0.59692	-0.683000	0.05179	0.627000	0.30340	0.585000	0.79938	CCA	G|0.864;A|0.136	0.136	strong		0.701	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		A	24628928	G	A	24628928	2	1	22	1	0	0	0	0	0	0	0	1	6362	1190	42	2		2	GGT5	22	24628928	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	6804	24628928	26675638	10857	15965										
CYTSA	23384	hgsc.bcm.edu	37	chr22	24761502	24761502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcacaggagggagcgtcGccagcctctctgatggctat	13	12	2	1	rs139166286	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24761502G>A	ENST00000314328.9	+	13	3171	c.2886G>A	c.(2884-2886)tcG>tcA	p.S962S	SPECC1L_ENST00000437398.1_Silent_p.S962S|SPECC1L_ENST00000541492.1_Silent_p.S962S|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	962					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGGAGCGTCGCCAGCCTCTC	0.502																																					p.S962S		Atlas-SNP	.											.	SPECC1L	85	.	0			c.G2886A						PASS	.	G	,	18,4388	25.3+/-52.1	0,18,2185	109	84	92		2886,2886	-11.1	0	22	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPECC1L	NM_001145468.1,NM_015330.2	,	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	,	962/1118,962/1118	24761502	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	23384	exon12			AGCGTCGCCAGCC	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2886G>A	22.37:g.24761502G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	36	0.5	NM_001145468	B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	CCDS33619.1																																																																																			A|0.002;G|0.998	0.002	strong		0.502	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		A	24761502	G	A	24761502	2	1	22	1	0	0	0	0	0	0	0	1	4209	1074	38	1		1	CYTSA	22	24761502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	132574	24761502	26543064	10858	15966										
C22orf36	2678	hgsc.bcm.edu	37	chr22	24984261	24984261	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtggtagatgagctgtcGgcagatcttgtccgaggact	16	7	1	3	rs201281973	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:24984261G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Nonsense_Mutation_p.R115*|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGAGCTGTCGGCAGATCTTG	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19843	0.0		0.0	False		,,,				2504	0.0				p.R115X		Atlas-SNP	.											C22orf36,colon,carcinoma,0,1	.	.	1	0			c.C343T						PASS	.	G	,stop/ARG	4,4270		0,4,2133	116	128	124		,343	-0.4	0	22		124	0,8470		0,0,4235	yes	intron,stop-gained	GGT1,C22orf36	NM_013430.2,NM_207644.2	,	0,4,6368	AA,AG,GG		0.0,0.0936,0.0314	,	,115/316	24984261	4,12740	2137	4235	6372	SO:0001627	intron_variant	388886	exon3			GCTGTCGGCAGAT	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4485G>A	22.37:g.24984261G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	201	106	0.527363	NM_207644	Q08247|Q14404|Q8TBS1|Q9UMK1	Nonsense_Mutation	SNP	ENST00000248923.4	37	CCDS42992.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.90	2.969710	0.53614	9.36E-4	0.0	ENSG00000178026	ENST00000318753	.	.	.	3.5	-0.358	0.12575	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9843	0.09509	0.3955:0.0:0.4411:0.1634	.	.	.	.	X	115	.	ENSP00000320520:R115X	R	-	1	2	C22orf36	23314261	0.993000	0.37304	0.045000	0.18777	0.635000	0.38103	0.761000	0.26489	-0.007000	0.14345	0.462000	0.41574	CGA	G|1.000;A|0.000	0.000	strong		0.617	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		A	24984261	G	A	24984261	1	1	22	0	1	0	0	0	0	0	0	0	2146	1124	39	1		1	C22orf36	22	24984261	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	222759	24984261	26320305	10859	15967										
GGT1	2678	hgsc.bcm.edu	37	chr22	25010746	25010746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgtgccacatggcagggaTgcactgcgggacggtggctc	16	10	0	0	rs4049881	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25010746T>C	ENST00000400382.1	+	6	923	c.168T>C	c.(166-168)gaT>gaC	p.D56D	GGT1_ENST00000400380.1_Silent_p.D56D|GGT1_ENST00000400383.1_Silent_p.D56D|GGT1_ENST00000406383.2_Silent_p.D56D|GGT1_ENST00000248923.4_Silent_p.D56D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	56					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGGCAGGGATGCACTGCGGG	0.622													t|||	343	0.0684904	0.2209	0.0231	5008	,	,		14046	0.003		0.002	False		,,,				2504	0.0307				p.D56D		Atlas-SNP	.											.	GGT1	68	.	0			c.T168C						PASS	.	C	,,,	589,3461		50,489,1486	41	46	45		168,168,168,168	-7.5	0	22	dbSNP_108	45	5,8363		0,5,4179	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GGT1	NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2	,,,	50,494,5665	CC,CT,TT		0.0598,14.5432,4.7834	,,,	56/570,56/570,56/570,56/570	25010746	594,11824	2025	4184	6209	SO:0001819	synonymous_variant	2678	exon6			CAGGGATGCACTG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.168T>C	22.37:g.25010746T>C		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	269	127	0.472119	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																			T|0.970;C|0.030	0.030	strong		0.622	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		C	25010746	T	C	25010746	2	2	22	1	0	0	0	0	0	0	0	1	6361	1461	51	2		2	GGT1	22	25010746	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26485	25010746	26293820	10860	15968										
GGT1	2678	hgsc.bcm.edu	37	chr22	25016311	25016311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggggggctgtcggtggcGgtgcctggggagatccgagg	22	9	0	1	rs183458338	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25016311G>A	ENST00000400382.1	+	8	1154	c.399G>A	c.(397-399)gcG>gcA	p.A133A	GGT1_ENST00000406383.2_Silent_p.A133A|GGT1_ENST00000400380.1_Silent_p.A133A|GGT1_ENST00000400383.1_Silent_p.A133A|GGT1_ENST00000248923.4_Silent_p.A133A			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	133					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTCGGTGGCGGTGCCTGGGG	0.677													a|||	198	0.0395367	0.1362	0.0187	5008	,	,		15877	0.0		0.005	False		,,,				2504	0.0				p.A133A		Atlas-SNP	.											.	GGT1	68	.	0			c.G399A						PASS	.	A	,,,	296,3406		6,284,1561	15	18	17		399,399,399,399	-6.7	0	22		17	25,8151		0,25,4063	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GGT1	NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2	,,,	6,309,5624	AA,AG,GG		0.3058,7.9957,2.7025	,,,	133/570,133/570,133/570,133/570	25016311	321,11557	1851	4088	5939	SO:0001819	synonymous_variant	2678	exon8			GGTGGCGGTGCCT	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.399G>A	22.37:g.25016311G>A		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	267	137	0.513109	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																			G|0.985;A|0.015	0.015	strong		0.677	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25016311	G	A	25016311	2	1	22	1	0	0	0	0	0	0	0	1	6361	1103	39	1		1	GGT1	22	25016311	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	5565	25016311	26288255	10861	15969										
PIWIL3	440822	hgsc.bcm.edu	37	chr22	25119210	25119210	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtttcttcaccacaatgaaAgctagagtgaaacttaaaaa	6	8	2	3	rs56199175	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25119210A>C	ENST00000332271.5	-	19	2687	c.2271T>G	c.(2269-2271)gcT>gcG	p.A757A	PIWIL3_ENST00000527701.1_Silent_p.A639A|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.A639A	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	757	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCACAATGAAAGCTAGAGTGA	0.333													a|||	400	0.0798722	0.0681	0.0548	5008	,	,		21989	0.0893		0.0467	False		,,,				2504	0.138				p.A757A		Atlas-SNP	.											.	PIWIL3	115	.	0			c.T2271G						PASS	.	A		287,4119	156.6+/-189.7	10,267,1926	88	82	84		2271	1.6	0.8	22	dbSNP_129	84	429,8169	132.0+/-189.7	8,413,3878	no	coding-synonymous	PIWIL3	NM_001008496.2		18,680,5804	CC,CA,AA		4.9895,6.5138,5.506		757/883	25119210	716,12288	2203	4299	6502	SO:0001819	synonymous_variant	440822	exon19			AATGAAAGCTAGA	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2271T>G	22.37:g.25119210A>C		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	31	14	0.451613	NM_001008496		Silent	SNP	ENST00000332271.5	37	CCDS33623.1																																																																																			A|0.945;C|0.055	0.055	strong		0.333	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		C	25119210	A	C	25119210	2	2	22	1	0	0	0	0	0	0	0	1	11959	59	3	5		5	PIWIL3	22	25119210	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	102899	25119210	26185356	10862	15970										
SGSM1	129049	hgsc.bcm.edu	37	chr22	25270455	25270455	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgatggttcctgcaggccgGtccatgctggtggtggccag	16	10	0	1	rs9624633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25270455G>C	ENST00000400359.4	+	13	1372	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	455						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTGCAGGCCGGTCCATGCTGG	0.607													G|||	708	0.141374	0.0825	0.1369	5008	,	,		18657	0.1548		0.0944	False		,,,				2504	0.2587				p.R455R		Atlas-SNP	.											.	SGSM1	150	.	0			c.G1365C						PASS	.	G	,,,	317,3787		14,289,1749	42	45	44		1365,,,1365	1.1	0.2	22	dbSNP_119	44	930,7466		49,832,3317	no	coding-synonymous,intron,intron,coding-synonymous	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	,,,	63,1121,5066	CC,CG,GG		11.0767,7.7242,9.976	,,,	455/1149,,,455/1088	25270455	1247,11253	2052	4198	6250	SO:0001819	synonymous_variant	129049	exon13			AGGCCGGTCCATG	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1365G>C	22.37:g.25270455G>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	157	81	0.515924	NM_133454	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																			G|0.883;C|0.117	0.117	strong		0.607	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		C	25270455	G	C	25270455	2	2	22	1	0	0	0	0	0	0	0	1	14222	1248	44	4		4	SGSM1	22	25270455	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	151245	25270455	26034111	10863	15971										
SGSM1	129049	hgsc.bcm.edu	37	chr22	25294155	25294155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgcccagcggaacacccccAcggtgctgcgacctagggat	12	16	0	0	rs6004350	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25294155A>C	ENST00000400359.4	+	20	2411	c.2404A>C	c.(2404-2406)Acg>Ccg	p.T802P	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.T747P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	802	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.		T -> P (in dbSNP:rs6004350).			Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAACACCCCCACGGTGCTGCG	0.627													C|||	496	0.0990415	0.3578	0.0317	5008	,	,		20487	0.0		0.001	False		,,,				2504	0.0				p.T802P		Atlas-SNP	.											SGSM1_ENST00000400359,NS,carcinoma,-1,2	SGSM1	150	2	0			c.A2404C						PASS	.	C	PRO/THR,PRO/THR,PRO/THR,PRO/THR	1165,3097		173,819,1139	52	64	60		2404,2239,2056,2221	0.4	0	22	dbSNP_114	60	10,8508		0,10,4249	yes	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	38,38,38,38	173,829,5388	CC,CA,AA		0.1174,27.3346,9.1941	benign,benign,benign,benign	802/1149,747/1094,686/1033,741/1088	25294155	1175,11605	2131	4259	6390	SO:0001583	missense	129049	exon20			ACCCCCACGGTGC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2404A>C	22.37:g.25294155A>C	ENSP00000383212:p.Thr802Pro	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	118	66	0.559322	NM_001039948	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	169	0.07738095238095238	159	0.3231707317073171	10	0.027624309392265192	0	0.0	0	0.0	C	2.963	-0.214065	0.06101	0.273346	0.001174	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07021	3.23;3.24	5.24	0.383	0.16239	Rab-GAP/TBC domain (2);	0.597033	0.15795	N	0.244222	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.48875	-0.8996	9	0.28530	T	0.3	-11.8193	5.2429	0.15481	0.2279:0.4713:0.2332:0.0676	rs6004350;rs52792982;rs6004350	747;802;819;802	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	P	802;747;802	ENSP00000383211:T747P;ENSP00000383212:T802P	ENSP00000383211:T747P	T	+	1	0	SGSM1	23624155	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.080000	0.14802	0.007000	0.14760	-0.187000	0.12897	ACG	A|0.872;C|0.128	0.128	strong		0.627	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		C	25294155	A	C	25294155	3	2	22	1	0	0	0	0	1	0	0	0	14222	159	6	5	2482	5	SGSM1	22	25294155	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	23700	25294155	26010411	10864	15972										
CRYBB2	1415	hgsc.bcm.edu	37	chr22	25627604	25627604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtaccccggctaccgtggGctgcagtacctgctggagaa	13	13	0	1	rs8140949	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25627604G>A	ENST00000398215.2	+	6	654	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	161	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCTACCGTGGGCTGCAGTACC	0.632													G|||	1654	0.330272	0.2784	0.2839	5008	,	,		17136	0.4325		0.2058	False		,,,				2504	0.456				p.G161G		Atlas-SNP	.											.	CRYBB2	18	.	0			c.G483A						PASS	.	G		1214,3192	421.5+/-339.4	180,854,1169	98	91	94		483	0.6	1	22	dbSNP_116	94	1820,6780	326.6+/-317.4	202,1416,2682	no	coding-synonymous	CRYBB2	NM_000496.2		382,2270,3851	AA,AG,GG		21.1628,27.5533,23.3277		161/206	25627604	3034,9972	2203	4300	6503	SO:0001819	synonymous_variant	1415	exon6			CCGTGGGCTGCAG		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.483G>A	22.37:g.25627604G>A		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	179	95	0.530726	NM_000496	Q9UCM8	Silent	SNP	ENST00000398215.2	37	CCDS13831.1																																																																																			G|0.756;A|0.244	0.244	strong		0.632	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		A	25627604	G	A	25627604	2	1	22	1	0	0	0	0	0	0	0	1	3911	1190	42	2		2	CRYBB2	22	25627604	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	333449	25627604	25676962	10865	15973										
LRP5L	91355	hgsc.bcm.edu	37	chr22	25753321	25753321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaagcattgaccagcacGcgcagctcctgcctgtccag	12	14	0	1	rs9624807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:25753321G>A	ENST00000402785.2	-	2	435	c.339C>T	c.(337-339)cgC>cgT	p.R113R	LRP5L_ENST00000444995.3_Silent_p.R113R|LRP5L_ENST00000402859.2_Silent_p.R113R			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	113					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGACCAGCACGCGCAGCTCCT	0.597													G|||	409	0.0816693	0.1301	0.0663	5008	,	,		16078	0.001		0.1133	False		,,,				2504	0.0777				p.R113R		Atlas-SNP	.											.	LRP5L	23	.	0			c.C339T						PASS	.	G	,	599,3803	261.6+/-264.4	43,513,1645	116	99	105		339,339	-0.2	0.1	22	dbSNP_119	105	970,7630	210.4+/-251.3	66,838,3396	no	coding-synonymous,coding-synonymous	LRP5L	NM_001135772.1,NM_182492.2	,	109,1351,5041	AA,AG,GG		11.2791,13.6075,12.0674	,	113/253,113/253	25753321	1569,11433	2201	4300	6501	SO:0001819	synonymous_variant	91355	exon4			CAGCACGCGCAGC	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.339C>T	22.37:g.25753321G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	209	102	0.488038	NM_001135772	B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	CCDS33626.1																																																																																			G|0.895;A|0.105	0.105	strong		0.597	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		A	25753321	G	A	25753321	2	1	22	1	0	0	0	0	0	0	0	1	8961	1074	38	1		1	LRP5L	22	25753321	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	125717	25753321	25551245	10866	15974										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26168333	26168333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctggaccaggtcgaggaCctggcctctctcatcagtgt	13	12	3	0	rs185388626	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26168333C>T	ENST00000407587.2	+	7	1894	c.1725C>T	c.(1723-1725)gaC>gaT	p.D575D	MYO18B_ENST00000335473.7_Silent_p.D575D|MYO18B_ENST00000536101.1_Silent_p.D575D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	575	Myosin motor.					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						AGGTCGAGGACCTGGCCTCTC	0.607													C|||	18	0.00359425	0.0136	0.0	5008	,	,		11926	0.0		0.0	False		,,,				2504	0.0				p.D575D		Atlas-SNP	.											.	MYO18B	322	.	0			c.C1725T						PASS	.	C		70,3950		0,70,1940	108	107	107		1725	2	1	22		107	0,8346		0,0,4173	no	coding-synonymous	MYO18B	NM_032608.5		0,70,6113	TT,TC,CC		0.0,1.7413,0.5661		575/2568	26168333	70,12296	2010	4173	6183	SO:0001819	synonymous_variant	84700	exon7			CGAGGACCTGGCC	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.1725C>T	22.37:g.26168333C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	94	53	0.56383	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				C|0.998;T|0.002	0.002	strong		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26168333	C	T	26168333	2	4	22	1	0	0	0	0	0	0	0	1	10066	506	18	2		2	MYO18B	22	26168333	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	415012	26168333	25136233	10867	15975										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26222454	26222454	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actctttgcggctgtggtctCactcatcaacaggtaacggg	11	11	4	0	rs9624909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26222454C>T	ENST00000407587.2	+	14	2943	c.2774C>T	c.(2773-2775)tCa>tTa	p.S925L	MYO18B_ENST00000335473.7_Missense_Mutation_p.S925L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S925L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	925	Myosin motor.		S -> L (in dbSNP:rs9624909). {ECO:0000269|PubMed:12547197}.			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						GCTGTGGTCTCACTCATCAAC	0.547													C|||	706	0.140974	0.1838	0.1801	5008	,	,		18425	0.0		0.2386	False		,,,				2504	0.1002				p.S925L		Atlas-SNP	.											.	MYO18B	322	.	0			c.C2774T						PASS	.	C	LEU/SER	741,3173		77,587,1293	162	154	156		2774	4.3	1	22	dbSNP_119	156	1803,6501		195,1413,2544	yes	missense	MYO18B	NM_032608.5	145	272,2000,3837	TT,TC,CC		21.7124,18.932,20.8217	probably-damaging	925/2568	26222454	2544,9674	1957	4152	6109	SO:0001583	missense	84700	exon14			TGGTCTCACTCAT	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.2774C>T	22.37:g.26222454C>T	ENSP00000386096:p.Ser925Leu	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	216	103	0.476852	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		355	0.16254578754578755	88	0.17886178861788618	77	0.212707182320442	2	0.0034965034965034965	188	0.24802110817941952	C	23.3	4.397818	0.83120	0.18932	0.217124	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.32;-2.32;-2.32	4.26	4.26	0.50523	Myosin head, motor domain (2);	0.078134	0.53938	D	0.000060	T	0.00144	0.0004	L	0.56769	1.78	0.22500	P	0.999043338	D;D;D;D	0.58268	0.978;0.982;0.972;0.978	P;P;P;P	0.58620	0.756;0.842;0.67;0.756	T	0.00000	-1.2891	9	0.52906	T	0.07	.	15.2478	0.73521	0.0:1.0:0.0:0.0	rs9624909;rs52810539;rs58212376;rs9624909	438;925;925;925	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	925	ENSP00000441229:S925L;ENSP00000334563:S925L;ENSP00000386096:S925L	ENSP00000334563:S925L	S	+	2	0	MYO18B	24552454	1.000000	0.71417	0.989000	0.46669	0.851000	0.48451	4.541000	0.60670	1.923000	0.55706	0.462000	0.41574	TCA	C|0.835;T|0.165	0.165	strong		0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26222454	C	T	26222454	3	4	22	1	0	0	0	0	1	0	0	0	10066	838	29	2	2824	2	MYO18B	22	26222454	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54121	26222454	25082112	10868	15976										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26247456	26247456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctatgctgaccacatgggGctcactcgcttccgccggca	12	15	1	1	rs5996988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26247456G>A	ENST00000407587.2	+	21	3967	c.3798G>A	c.(3796-3798)ggG>ggA	p.G1266G	MYO18B_ENST00000536101.1_Silent_p.G1265G|MYO18B_ENST00000335473.7_Silent_p.G1265G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1265	Myosin motor.					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						ACCACATGGGGCTCACTCGCT	0.572													G|||	1212	0.242013	0.171	0.3559	5008	,	,		18680	0.0833		0.3946	False		,,,				2504	0.2638				p.G1265G		Atlas-SNP	.											MYO18B,NS,carcinoma,0,1	MYO18B	322	1	0			c.G3795A						PASS	.	G		861,3479		87,687,1396	31	32	32		3795	-0.6	1	22	dbSNP_114	32	3217,5271		641,1935,1668	no	coding-synonymous	MYO18B	NM_032608.5		728,2622,3064	AA,AG,GG		37.9006,19.8387,31.7898		1265/2568	26247456	4078,8750	2170	4244	6414	SO:0001819	synonymous_variant	84700	exon21			CATGGGGCTCACT	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.3798G>A	22.37:g.26247456G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	58	22	0.37931	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				G|0.748;A|0.252	0.252	strong		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26247456	G	A	26247456	2	1	22	1	0	0	0	0	0	0	0	1	10066	1190	42	2		2	MYO18B	22	26247456	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	25002	26247456	25057110	10869	15977										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26272270	26272270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctctacttagtgccaccAttggaactgagcagctccga	9	13	1	1	rs695633	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26272270A>G	ENST00000407587.2	+	24	4367	c.4198A>G	c.(4198-4200)Att>Gtt	p.I1400V	MYO18B_ENST00000536101.1_Missense_Mutation_p.I1399V|MYO18B_ENST00000335473.7_Missense_Mutation_p.I1399V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1399						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						TAGTGCCACCATTGGAACTGA	0.582													A|||	180	0.0359425	0.1316	0.0086	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.0				p.I1399V		Atlas-SNP	.											.	MYO18B	322	.	0			c.A4195G						PASS	.	A	VAL/ILE	447,3717		25,397,1660	37	42	40		4195	-8.4	0	22	dbSNP_83	40	11,8423		0,11,4206	yes	missense	MYO18B	NM_032608.5	29	25,408,5866	GG,GA,AA		0.1304,10.7349,3.6355	benign	1399/2568	26272270	458,12140	2082	4217	6299	SO:0001583	missense	84700	exon24			GCCACCATTGGAA	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.4198A>G	22.37:g.26272270A>G	ENSP00000386096:p.Ile1400Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		55	0.025183150183150184	51	0.10365853658536585	4	0.011049723756906077	0	0.0	0	0.0	A	5.587	0.293142	0.10567	0.107349	0.001304	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86297	-2.08;-2.08;-2.1	4.83	-8.43	0.00953	.	0.552403	0.17941	N	0.156858	T	0.05364	0.0142	M	0.63428	1.95	0.80722	P	0.0	B;B;B;B	0.17268	0.007;0.007;0.021;0.013	B;B;B;B	0.14023	0.01;0.004;0.009;0.01	T	0.45906	-0.9229	9	0.37606	T	0.19	.	0.9513	0.01376	0.2422:0.331:0.22:0.2068	rs695633;rs695633	912;1399;1400;1399	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1399;1399;1400	ENSP00000441229:I1399V;ENSP00000334563:I1399V;ENSP00000386096:I1400V	ENSP00000334563:I1399V	I	+	1	0	MYO18B	24602270	0.000000	0.05858	0.000000	0.03702	0.935000	0.57460	-1.506000	0.02271	-1.625000	0.01554	0.528000	0.53228	ATT	A|0.967;G|0.033	0.033	strong		0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26272270	A	G	26272270	3	3	22	1	0	0	0	0	1	0	0	0	10066	217	8	2	4285	2	MYO18B	22	26272270	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	24814	26272270	25032296	10870	15978										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26422980	26422980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccgaaaagtcgaaaacccAattcagttcctgcgagtccc	7	15	1	0	rs2236005	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26422980A>G	ENST00000407587.2	+	43	7212	c.7043A>G	c.(7042-7044)cAa>cGa	p.Q2348R	MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2347R|MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2347R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2347						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						TCGAAAACCCAATTCAGTTCC	0.567													G|||	2135	0.426318	0.9107	0.2522	5008	,	,		18809	0.244		0.174	False		,,,				2504	0.3425				p.Q2347R		Atlas-SNP	.											MYO18B,NS,carcinoma,-1,1	MYO18B	322	1	0			c.A7040G						PASS	.	G	ARG/GLN	2970,896		1156,658,119	72	80	78		7040	3.8	0	22	dbSNP_98	78	1273,6995		103,1067,2964	yes	missense	MYO18B	NM_032608.5	43	1259,1725,3083	GG,GA,AA		15.3967,23.1764,34.9679	benign	2347/2568	26422980	4243,7891	1933	4134	6067	SO:0001583	missense	84700	exon43			AAACCCAATTCAG	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.7043A>G	22.37:g.26422980A>G	ENSP00000386096:p.Gln2348Arg	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		761|761	0.3484432234432234|0.3484432234432234	424|424	0.8617886178861789|0.8617886178861789	84|84	0.23204419889502761|0.23204419889502761	135|135	0.23601398601398602|0.23601398601398602	118|118	0.15567282321899736|0.15567282321899736	G|G	0.003|0.003	-2.419485|-2.419485	0.00188|0.00188	0.768236|0.768236	0.153967|0.153967	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.84589	.|-1.86;-1.86;-1.87	4.89|4.89	3.78|3.78	0.43462|0.43462	.|.	.|0.274240	.|0.23176	.|N	.|0.051064	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00170|0.00170	-1.935|-1.935	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.42699|0.42699	-0.9436|-0.9436	4|9	.|0.02654	.|T	.|1	.|.	4.7014|4.7014	0.12828|0.12828	0.2629:0.0:0.5664:0.1706|0.2629:0.0:0.5664:0.1706	rs2236005;rs56868966;rs2236005|rs2236005;rs56868966;rs2236005	.|1860;2349;2347;2348;2347	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	D|R	297|2347;2347;2348	.|ENSP00000441229:Q2347R;ENSP00000334563:Q2347R;ENSP00000386096:Q2348R	.|ENSP00000334563:Q2347R	N|Q	+|+	1|2	0|0	MYO18B|MYO18B	24752980|24752980	0.121000|0.121000	0.22262|0.22262	0.005000|0.005000	0.12908|0.12908	0.094000|0.094000	0.18550|0.18550	2.406000|2.406000	0.44557|0.44557	1.056000|1.056000	0.40484|0.40484	-0.355000|-0.355000	0.07637|0.07637	AAT|CAA	A|0.618;G|0.382	0.382	strong		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26422980	A	G	26422980	3	3	22	1	0	0	0	0	1	0	0	0	10066	130	5	2	7206	2	MYO18B	22	26422980	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	150710	26422980	24881586	10871	15979										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26422993	26422993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaaacccaattcagttcctgCgagtccctcttagaatccag	6	13	2	1	rs7290069	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26422993C>T	ENST00000407587.2	+	43	7225	c.7056C>T	c.(7054-7056)tgC>tgT	p.C2352C	MYO18B_ENST00000536101.1_Silent_p.C2351C|MYO18B_ENST00000335473.7_Silent_p.C2351C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2351						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						TCAGTTCCTGCGAGTCCCTCT	0.567													C|||	172	0.034345	0.1256	0.0072	5008	,	,		19058	0.001		0.0	False		,,,				2504	0.0				p.C2351C		Atlas-SNP	.											MYO18B,NS,carcinoma,+2,1	MYO18B	322	1	0			c.C7053T						PASS	.	C		437,3431		26,385,1523	79	88	85		7053	-0.2	1	22	dbSNP_116	85	3,8269		0,3,4133	no	coding-synonymous	MYO18B	NM_032608.5		26,388,5656	TT,TC,CC		0.0363,11.2978,3.6244		2351/2568	26422993	440,11700	1934	4136	6070	SO:0001819	synonymous_variant	84700	exon43			TTCCTGCGAGTCC	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.7056C>T	22.37:g.26422993C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	41	19	0.463415	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37		65	0.02976190476190476	63	0.12804878048780488	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	8.758	0.922959	0.18056	0.112978	3.63E-4	ENSG00000133454	ENST00000543971	.	.	.	4.89	-0.211	0.13172	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	P	0.9999999999999841	.	.	.	.	.	.	T	0.17961	-1.0352	3	.	.	.	.	9.1903	0.37195	0.0:0.5439:0.0:0.4561	rs7290069	.	.	.	V	301	.	.	A	+	2	0	MYO18B	24752993	0.125000	0.22332	0.988000	0.46212	0.824000	0.46624	-1.147000	0.03188	0.125000	0.18397	0.462000	0.41574	GCG	C|0.968;T|0.032	0.032	strong		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422993	C	T	26422993	2	4	22	1	0	0	0	0	0	0	0	1	10066	776	27	1		1	MYO18B	22	26422993	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13	26422993	24881573	10872	15980										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26423124	26423124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcctctgtggacgatgcggGctgtccagaccttggaaagg	15	10	1	1	rs6004901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26423124G>C	ENST00000407587.2	+	43	7356	c.7187G>C	c.(7186-7188)gGc>gCc	p.G2396A	MYO18B_ENST00000536101.1_Missense_Mutation_p.G2395A|MYO18B_ENST00000335473.7_Missense_Mutation_p.G2395A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2395						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						GACGATGCGGGCTGTCCAGAC	0.592													G|||	488	0.0974441	0.2663	0.0476	5008	,	,		15885	0.004		0.0348	False		,,,				2504	0.0654				p.G2395A		Atlas-SNP	.											.	MYO18B	322	.	0			c.G7184C						PASS	.	G	ALA/GLY	855,3101		95,665,1218	66	72	70		7184	-1.6	0	22	dbSNP_114	70	253,8029		6,241,3894	yes	missense	MYO18B	NM_032608.5	60	101,906,5112	CC,CG,GG		3.0548,21.6127,9.0538	benign	2395/2568	26423124	1108,11130	1978	4141	6119	SO:0001583	missense	84700	exon43			ATGCGGGCTGTCC	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.7187G>C	22.37:g.26423124G>C	ENSP00000386096:p.Gly2396Ala	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	88	39	0.443182	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		166|166	0.076007326007326|0.076007326007326	119|119	0.241869918699187|0.241869918699187	22|22	0.06077348066298342|0.06077348066298342	4|4	0.006993006993006993|0.006993006993006993	21|21	0.027704485488126648|0.027704485488126648	G|G	0.007|0.007	-1.985354|-1.985354	0.00443|0.00443	0.216127|0.216127	0.030548|0.030548	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86956	.|-2.17;-2.17;-2.19	5.12|5.12	-1.6|-1.6	0.08426|0.08426	.|.	.|0.491877	.|0.18417	.|N	.|0.141867	T|T	0.00073|0.00073	0.0002|0.0002	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B;B	.|0.06786	.|0.001;0.001;0.001;0.001;0.001	.|B;B;B;B;B	.|0.08055	.|0.003;0.001;0.001;0.003;0.003	T|T	0.02877|0.02877	-1.1099|-1.1099	4|9	.|0.19147	.|T	.|0.46	.|.	1.509|1.509	0.02492|0.02492	0.1649:0.2383:0.3545:0.2424|0.1649:0.2383:0.3545:0.2424	rs6004901;rs52824215;rs6004901|rs6004901;rs52824215;rs6004901	.|1908;2397;2395;2396;2395	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	P|A	345|2395;2395;2396	.|ENSP00000441229:G2395A;ENSP00000334563:G2395A;ENSP00000386096:G2396A	.|ENSP00000334563:G2395A	A|G	+|+	1|2	0|0	MYO18B|MYO18B	24753124|24753124	0.003000|0.003000	0.15002|0.15002	0.011000|0.011000	0.14972|0.14972	0.130000|0.130000	0.20726|0.20726	0.135000|0.135000	0.15952|0.15952	0.154000|0.154000	0.19237|0.19237	-0.264000|-0.264000	0.10439|0.10439	GCT|GGC	G|0.912;C|0.088	0.088	strong		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26423124	G	C	26423124	3	2	22	1	0	0	0	0	1	0	0	0	10066	1203	42	4	7350	4	MYO18B	22	26423124	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	131	26423124	24881442	10873	15981										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26423477	26423477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgactcgtcctcatcctccGgctccatcgtgtccttcaaa	6	17	2	1	rs7284177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26423477G>A	ENST00000407587.2	+	43	7709	c.7540G>A	c.(7540-7542)Ggc>Agc	p.G2514S	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2513S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2513S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2513	Poly-Ser.					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						CTCATCCTCCGGCTCCATCGT	0.587													A|||	352	0.0702875	0.2005	0.0259	5008	,	,		18932	0.004		0.0179	False		,,,				2504	0.0481				p.G2513S		Atlas-SNP	.											.	MYO18B	322	.	0			c.G7537A						PASS	.	A	SER/GLY	695,3407		58,579,1414	53	55	55		7537	1.8	1	22	dbSNP_116	55	146,8242		1,144,4049	yes	missense	MYO18B	NM_032608.5	56	59,723,5463	AA,AG,GG		1.7406,16.943,6.7334	benign	2513/2568	26423477	841,11649	2051	4194	6245	SO:0001583	missense	84700	exon43			TCCTCCGGCTCCA	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.7540G>A	22.37:g.26423477G>A	ENSP00000386096:p.Gly2514Ser	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	56	21	0.375	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		123	0.05631868131868132	92	0.18699186991869918	13	0.03591160220994475	4	0.006993006993006993	14	0.018469656992084433	A	4.656	0.121893	0.08931	0.16943	0.017406	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85088	-1.92;-1.92;-1.94	5.17	1.8	0.24995	.	0.170297	0.37437	N	0.002083	T	0.00109	0.0003	N	0.00729	-1.24	0.54753	P	1.0999999999983245E-5	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.002	T	0.12426	-1.0548	9	0.02654	T	1	.	4.0444	0.09766	0.4128:0.0:0.4136:0.1736	rs7284177;rs52837742;rs59696890;rs7284177	2026;2515;2513;2514;2513	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	S	2513;2513;2514	ENSP00000441229:G2513S;ENSP00000334563:G2513S;ENSP00000386096:G2514S	ENSP00000334563:G2513S	G	+	1	0	MYO18B	24753477	0.459000	0.25768	0.958000	0.39756	0.893000	0.52053	0.694000	0.25512	-0.007000	0.14345	-0.361000	0.07541	GGC	G|0.931;A|0.069	0.069	strong		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26423477	G	A	26423477	3	1	22	1	0	0	0	0	1	0	0	0	10066	1116	39	1	7703	1	MYO18B	22	26423477	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	353	26423477	24881089	10874	15982										
SEZ6L	23544	hgsc.bcm.edu	37	chr22	26688401	26688401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgagggagatgctagccctTtgggtccttacctcctgccc	11	15	0	1	rs16981666	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26688401T>C	ENST00000248933.6	+	2	219	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.L42L|SEZ6L_ENST00000360929.3_Silent_p.L42L|SEZ6L_ENST00000404234.3_Silent_p.L42L|SEZ6L_ENST00000529632.2_Silent_p.L42L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	42					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTAGCCCTTTGGGTCCTTA	0.562													T|||	452	0.0902556	0.2322	0.0216	5008	,	,		18973	0.1012		0.0	False		,,,				2504	0.0286				p.L42L		Atlas-SNP	.											.	SEZ6L	174	.	0			c.T124C						PASS	.	T	,,,,,	955,3451	354.1+/-312.5	100,755,1348	47	39	42		124,124,124,124,124,124	-1.8	0	22	dbSNP_123	42	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	100,762,5641	CC,CT,TT		0.0814,21.675,7.3966	,,,,,	42/1024,42/1014,42/1012,42/950,42/949,42/1025	26688401	962,12044	2203	4300	6503	SO:0001819	synonymous_variant	23544	exon2			AGCCCTTTGGGTC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.124T>C	22.37:g.26688401T>C		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	60	32	0.533333	NM_001184777	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																			T|0.927;C|0.073	0.073	strong		0.562	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			C	26688401	T	C	26688401	2	2	22	1	0	0	0	0	0	0	0	1	14143	1838	64	2		2	SEZ6L	22	26688401	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	264924	26688401	24616165	10875	15983										
HPS4	89781	hgsc.bcm.edu	37	chr22	26860269	26860269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggccaggatggtcttcgaGctgctcttgggctccatgct	13	11	2	0	rs2014410	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26860269G>C	ENST00000398145.2	-	11	1943	c.1327C>G	c.(1327-1329)Ctc>Gtc	p.L443V	HPS4_ENST00000336873.5_Missense_Mutation_p.L443V|HPS4_ENST00000402105.3_Missense_Mutation_p.L438V|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Missense_Mutation_p.L456V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	443			L -> V (in dbSNP:rs2014410). {ECO:0000269|PubMed:17974005}.		blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGTCTTCGAGCTGCTCTTGG	0.622									Hermansky-Pudlak syndrome				G|||	1774	0.354233	0.2927	0.2536	5008	,	,		18410	0.3026		0.3817	False		,,,				2504	0.5337				p.L443V		Atlas-SNP	.											.	HPS4	123	.	0			c.C1327G						PASS	.	G	VAL/LEU,VAL/LEU	1381,3025	453.6+/-350.4	215,951,1037	94	90	91		1327,1312	-3.8	0	22	dbSNP_92	91	3536,5064	513.8+/-378.2	701,2134,1465	yes	missense,missense	HPS4	NM_022081.4,NM_152841.1	32,32	916,3085,2502	CC,CG,GG		41.1163,31.3436,37.8056	benign,benign	443/709,438/704	26860269	4917,8089	2203	4300	6503	SO:0001583	missense	89781	exon11	Familial Cancer Database	HPS, HPS1-8	CTTCGAGCTGCTC		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1327C>G	22.37:g.26860269G>C	ENSP00000381213:p.Leu443Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_022081	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	735	0.33653846153846156	156	0.3170731707317073	94	0.2596685082872928	185	0.32342657342657344	300	0.39577836411609496	G	3.661	-0.069509	0.07228	0.313436	0.411163	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.56275	1.46;1.46;1.46;1.46;0.47	4.83	-3.76	0.04359	.	2.135670	0.01490	N	0.017037	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	B;B;B;P;B	0.37276	0.187;0.187;0.187;0.589;0.187	B;B;B;B;B	0.27796	0.037;0.037;0.037;0.083;0.037	T	0.16808	-1.0390	9	0.18710	T	0.47	5.0752	10.0843	0.42408	0.6724:0.0:0.3276:0.0	rs2014410;rs17401332;rs2014410	443;443;443;456;438	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	V	443;456;438;443;461;461	ENSP00000381213:L443V;ENSP00000381210:L456V;ENSP00000384185:L438V;ENSP00000338457:L443V;ENSP00000415081:L461V	ENSP00000325840:L461V	L	-	1	0	HPS4	25190269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.433000	0.06948	-0.455000	0.07054	-1.202000	0.01658	CTC	G|0.640;C|0.360	0.360	strong		0.622	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		C	26860269	G	C	26860269	3	2	22	1	0	0	0	0	1	0	0	0	7341	971	34	4	815	4	HPS4	22	26860269	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	171868	26860269	24444297	10876	15984										
TPST2	8459	hgsc.bcm.edu	37	chr22	26936766	26936766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactcacttggacagggaGacaccaccgggcttgccaat	10	14	1	1	rs58274935	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:26936766G>A	ENST00000338754.4	-	3	1101	c.831C>T	c.(829-831)gtC>gtT	p.V277V	TPST2_ENST00000403880.1_Silent_p.V277V|TPST2_ENST00000398110.2_Silent_p.V277V	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	277					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGACAGGGAGACACCACCGG	0.597													G|||	341	0.0680911	0.0469	0.0476	5008	,	,		18035	0.0833		0.0736	False		,,,				2504	0.09				p.V277V		Atlas-SNP	.											.	TPST2	23	.	0			c.C831T						PASS	.	G	,	191,4215	118.8+/-156.5	7,177,2019	40	41	40		831,831	3	1	22	dbSNP_129	40	442,8158	132.3+/-190.0	15,412,3873	no	coding-synonymous,coding-synonymous	TPST2	NM_001008566.1,NM_003595.3	,	22,589,5892	AA,AG,GG		5.1395,4.335,4.867	,	277/378,277/378	26936766	633,12373	2203	4300	6503	SO:0001819	synonymous_variant	8459	exon3			CAGGGAGACACCA	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.831C>T	22.37:g.26936766G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	23	10	0.434783	NM_001008566	B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	CCDS13839.1																																																																																			G|0.952;A|0.048	0.048	strong		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		A	26936766	G	A	26936766	2	1	22	1	0	0	0	0	0	0	0	1	16425	929	33	2		2	TPST2	22	26936766	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	76497	26936766	24367800	10877	15985										
MN1	4330	hgsc.bcm.edu	37	chr22	28193097	28193097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtggatctcgtcgggtggCggggcgccgctgctgctcgt	20	11	1	0	rs45471598	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:28193097C>T	ENST00000302326.4	-	1	4389	c.3435G>A	c.(3433-3435)ccG>ccA	p.P1145P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1145					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGTCGGGTGGCGGGGCGCCGC	0.711			T	ETV6	"AML, meningioma"								C|||	265	0.0529153	0.1936	0.013	5008	,	,		13060	0.0		0.0	False		,,,				2504	0.0				p.P1145P		Atlas-SNP	.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	MN1,colon,carcinoma,0,1	MN1	122	1	0			c.G3435A						PASS	.	C		505,3385		19,467,1459	6	7	7		3435	-3.9	0	22	dbSNP_127	7	8,8188		0,8,4090	no	coding-synonymous	MN1	NM_002430.2		19,475,5549	TT,TC,CC		0.0976,12.982,4.2446		1145/1321	28193097	513,11573	1945	4098	6043	SO:0001819	synonymous_variant	4330	exon1			GGGTGGCGGGGCG	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3435G>A	22.37:g.28193097C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_002430	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																			C|0.962;T|0.038	0.038	strong		0.711	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28193097	C	T	28193097	2	4	22	1	0	0	0	0	0	0	0	1	9673	755	27	1		1	MN1	22	28193097	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1256331	28193097	23111469	10878	15986										
MN1	4330	hgsc.bcm.edu	37	chr22	28194912	28194913	+	In_Frame_Ins	INS	-	-	TGC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgctgttgctgttgctgtINStgctgctgctgctgctgctg							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:28194912_28194913insTGC	ENST00000302326.4	-	1	2573_2574	c.1619_1620insGCA	c.(1618-1620)caa>caGCAa	p.540_540Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	540	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgctgttgctgctgctg	0.658			T	ETV6	"AML, meningioma"																																p.Q540delinsQQ		Atlas-Indel	.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	MN1,NS,carcinoma,0,1	MN1	122	1	0			c.1620_1621insGCA						PASS	.																																			SO:0001652	inframe_insertion	4330	exon1			.	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1617_1619dupGCA	22.37:g.28194919_28194921dupTGC	ENSP00000304956:p.Gln550dup	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_002430	A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	CCDS42998.1																																																																																			.	.	weak		0.658	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		TGC	28194913	-	TGC	28194912	7	5	22	1	0	1	1	0	0	0	0	0	9673	1722	60	0	2350	0	MN1	22	28194912	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1815	28194912	23109654	10879	15987										
EMID1	129080	hgsc.bcm.edu	37	chr22	29621128	29621128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccatcccttagttgcagCttcctctgcctccttggagc	7	17	1	0	rs743920	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:29621128C>G	ENST00000404820.3	+	4	453	c.326C>G	c.(325-327)gCt>gGt	p.A109G	EMID1_ENST00000404755.3_Missense_Mutation_p.A109G|EMID1_ENST00000334018.6_Missense_Mutation_p.A109G|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	107						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TTAGTTGCAGCTTCCTCTGCC	0.637													G|||	2343	0.467851	0.7761	0.3646	5008	,	,		18937	0.6081		0.1143	False		,,,				2504	0.3436				p.A109G		Atlas-SNP	.											.	EMID1	33	.	0			c.C326G						PASS	.	G	GLY/ALA	2990,1416	461.5+/-352.9	1031,928,244	125	115	119		326	1.3	0.4	22	dbSNP_86	119	1108,7492	768.0+/-407.6	81,946,3273	yes	missense	EMID1	NM_133455.2	60	1112,1874,3517	GG,GC,CC		12.8837,32.138,31.5085	benign	109/444	29621128	4098,8908	2203	4300	6503	SO:0001583	missense	129080	exon4			TTGCAGCTTCCTC	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.326C>G	22.37:g.29621128C>G	ENSP00000384452:p.Ala109Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_133455	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37		921	0.4217032967032967	382	0.7764227642276422	120	0.3314917127071823	331	0.5786713286713286	88	0.11609498680738786	G	0.286	-0.983016	0.02180	0.67862	0.128837	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	D;T;D;D	0.89875	-2.58;0.93;-2.41;-2.56	4.62	1.28	0.21552	.	0.289804	0.24915	N	0.034589	T	0.00012	0.0000	N	0.00104	-2.125	0.80722	P	0.0	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	0.42275	-0.9461	9	0.06625	T	0.88	-1.1286	7.6922	0.28575	0.0943:0.5032:0.4025:0.0	rs743920;rs5763064;rs17857319;rs57479276;rs743920	109;109;107;109	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	G	109	ENSP00000335481:A109G;ENSP00000403816:A109G;ENSP00000385414:A109G;ENSP00000384452:A109G	ENSP00000335481:A109G	A	+	2	0	EMID1	27951128	0.754000	0.28360	0.352000	0.25734	0.003000	0.03518	0.813000	0.27225	0.250000	0.21479	-0.815000	0.03128	GCT	C|0.658;G|0.342	0.342	strong		0.637	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		G	29621128	C	G	29621128	3	3	22	1	0	0	0	0	1	0	0	0	5091	797	28	4	340	4	EMID1	22	29621128	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1426216	29621128	21683438	10880	15988										
NEFH	4744	hgsc.bcm.edu	37	chr22	29886341	29886341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagataagaaaaaagtcccCaccccagagaaggaggctcc	10	11	0	3	rs61744118	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:29886341C>T	ENST00000310624.6	+	4	2745	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	910	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAAAAGTCCCCACCCCAGAGA	0.502													C|||	49	0.00978435	0.0363	0.0014	5008	,	,		18928	0.0		0.0	False		,,,				2504	0.0				p.P904P		Atlas-SNP	.											.	NEFH	178	.	0			c.C2712T						PASS	.	C		129,4277	88.7+/-127.4	2,125,2076	55	60	59		2712	-6.6	0	22	dbSNP_129	59	0,8600		0,0,4300	no	coding-synonymous	NEFH	NM_021076.3		2,125,6376	TT,TC,CC		0.0,2.9278,0.9918		904/1021	29886341	129,12877	2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			AGTCCCCACCCCA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2712C>T	22.37:g.29886341C>T		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	136	135	0.992647	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			C|0.990;T|0.010	0.010	strong		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29886341	C	T	29886341	2	4	22	1	0	0	0	0	0	0	0	1	10314	581	21	2		2	NEFH	22	29886341	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	265213	29886341	21418225	10881	15989										
MTMR3	8897	hgsc.bcm.edu	37	chr22	30403307	30403307	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctttctgacgtggagttCggtaaggtgctccctggacc	13	11	1	1	rs146523702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30403307C>T	ENST00000401950.2	+	10	1218	c.876C>T	c.(874-876)ttC>ttT	p.F292F	MTMR3_ENST00000406629.1_Splice_Site_p.F292F|MTMR3_ENST00000333027.3_Splice_Site_p.F292F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Splice_Site_p.F156F|MTMR3_ENST00000351488.3_Splice_Site_p.F292F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	292	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACGTGGAGTTCGGTAAGGTGC	0.458													C|||	12	0.00239617	0.0091	0.0	5008	,	,		21375	0.0		0.0	False		,,,				2504	0.0				p.F292F		Atlas-SNP	.											MTMR3_ENST00000401950,NS,lymphoid_neoplasm,+2,1	MTMR3	106	1	0			c.C876T						PASS	.	C	,,	47,4359	46.0+/-80.4	0,47,2156	46	40	42		876,876,876	-3	1	22	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,49,6454	TT,TC,CC		0.0233,1.0667,0.3767	,,	292/1199,292/1171,292/1162	30403307	49,12957	2203	4300	6503	SO:0001630	splice_region_variant	8897	exon10			GGAGTTCGGTAAG	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.877+1C>T	22.37:g.30403307C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_021090	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																			C|0.997;T|0.003	0.003	strong		0.458	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	Silent	T	30403307	C	T	30403307	5	4	22	1	0	0	0	0	0	0	1	0	9945	898	31	1	906	1	MTMR3	22	30403307	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	516966	30403307	20901259	10882	15990										
TBC1D10A	83874	hgsc.bcm.edu	37	chr22	30700607	30700607	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcctcagcacctccaggggTacttcctccagcctgtggag	11	15	1	0	rs4823089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30700607T>G	ENST00000215790.7	-	2	386	c.222A>C	c.(220-222)gtA>gtC	p.V74V	TBC1D10A_ENST00000403362.1_5'UTR|TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.V81V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	74					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTCCAGGGGTACTTCCTCCA	0.607													G|||	792	0.158147	0.1384	0.1571	5008	,	,		21842	0.1448		0.2535	False		,,,				2504	0.1012				p.V81V		Atlas-SNP	.											.	TBC1D10A	49	.	0			c.A243C						PASS	.	G	,	682,3724	762.1+/-413.1	57,568,1578	78	60	66		243,222	-1.9	1	22	dbSNP_111	66	2208,6392	709.0+/-405.7	288,1632,2380	no	coding-synonymous,coding-synonymous	TBC1D10A	NM_001204240.1,NM_031937.2	,	345,2200,3958	GG,GT,TT		25.6744,15.4789,22.2205	,	81/516,74/509	30700607	2890,10116	2203	4300	6503	SO:0001819	synonymous_variant	83874	exon2			CAGGGGTACTTCC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.222A>C	22.37:g.30700607T>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_001204240	B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	CCDS13874.1																																																																																			T|0.801;G|0.199	0.199	strong		0.607	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		G	30700607	T	G	30700607	2	3	22	1	0	0	0	0	0	0	0	1	15595	1625	57	5		5	TBC1D10A	22	30700607	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	297300	30700607	20603959	10883	15991										
SF3A1	10291	hgsc.bcm.edu	37	chr22	30733111	30733111	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccatgggaggtgggggatgCacagggggcattggggctgg	22	6	0	0	rs2229807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30733111C>A	ENST00000215793.8	-	13	2164	c.2010G>T	c.(2008-2010)gtG>gtT	p.V670V	SF3A1_ENST00000439242.1_Silent_p.V605V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	670					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GTGGGGGATGCACAGGGGGCA	0.572													A|||	769	0.153554	0.1331	0.1556	5008	,	,		17096	0.1448		0.2535	False		,,,				2504	0.0859				p.V670V		Atlas-SNP	.											.	SF3A1	61	.	0			c.G2010T						PASS	.	A	,	667,3739	763.8+/-413.2	56,555,1592	55	55	55		1815,2010	-2.6	0.9	22	dbSNP_98	55	2193,6407	711.1+/-405.8	284,1625,2391	no	coding-synonymous,coding-synonymous	SF3A1	NM_001005409.1,NM_005877.4	,	340,2180,3983	AA,AC,CC		25.5,15.1384,21.9899	,	605/729,670/794	30733111	2860,10146	2203	4300	6503	SO:0001819	synonymous_variant	10291	exon13			GGGATGCACAGGG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2010G>T	22.37:g.30733111C>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	134	77	0.574627	NM_005877	E9PAW1	Silent	SNP	ENST00000215793.8	37	CCDS13875.1																																																																																			C|0.795;A|0.205	0.205	strong		0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30733111	C	A	30733111	2	1	22	1	0	0	0	0	0	0	0	1	14146	697	25	4		4	SF3A1	22	30733111	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	32504	30733111	20571455	10884	15992										
CCDC157	550631	hgsc.bcm.edu	37	chr22	30761995	30761995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggatctgtgaggatggcGcacctgctgggcagccaggc	16	12	1	1	rs61732271	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30761995G>A	ENST00000405659.1	+	3	715	c.6G>A	c.(4-6)gcG>gcA	p.A2A	CCDC157_ENST00000338306.3_Silent_p.A2A|CCDC157_ENST00000399824.2_Silent_p.A2A			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	2										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGAGGATGGCGCACCTGCTGG	0.657													G|||	89	0.0177716	0.0651	0.0029	5008	,	,		18741	0.0		0.001	False		,,,				2504	0.0				p.A2A		Atlas-SNP	.											.	CCDC157	86	.	0			c.G6A						PASS	.	G		69,1315		1,67,624	21	27	25		6	-10.5	0.8	22	dbSNP_129	25	0,3182		0,0,1591	no	coding-synonymous	CCDC157	NM_001017437.2		1,67,2215	AA,AG,GG		0.0,4.9855,1.5112		2/753	30761995	69,4497	692	1591	2283	SO:0001819	synonymous_variant	550631	exon3			GATGGCGCACCTG	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.6G>A	22.37:g.30761995G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	20	5	0.25	NM_001017437	Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																			G|0.990;A|0.010	0.010	strong		0.657	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30761995	G	A	30761995	2	1	22	1	0	0	0	0	0	0	0	1	2789	1074	38	1		1	CCDC157	22	30761995	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28884	30761995	20542571	10885	15993										
CCDC157	550631	hgsc.bcm.edu	37	chr22	30762140	30762140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgcatggcctgtgacctcGacatggtggccctgctggag	14	13	0	1	rs740223	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30762140G>A	ENST00000405659.1	+	3	860	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CCDC157_ENST00000338306.3_Missense_Mutation_p.D51N|CCDC157_ENST00000399824.2_Missense_Mutation_p.D51N			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	51			D -> N (in dbSNP:rs740223).							central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CTGTGACCTCGACATGGTGGC	0.647													G|||	797	0.159145	0.1415	0.1571	5008	,	,		20656	0.1468		0.2694	False		,,,				2504	0.0838				p.D51N		Atlas-SNP	.											.	CCDC157	86	.	0			c.G151A						PASS	.	G	ASN/ASP	667,3739	282.5+/-276.6	55,557,1591	154	135	142		151	5.2	1	22	dbSNP_86	142	2204,6396	375.9+/-337.9	287,1630,2383	no	missense	CCDC157	NM_001017437.2	23	342,2187,3974	AA,AG,GG		25.6279,15.1384,22.0744	probably-damaging	51/753	30762140	2871,10135	2203	4300	6503	SO:0001583	missense	550631	exon3			GACCTCGACATGG	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.151G>A	22.37:g.30762140G>A	ENSP00000385357:p.Asp51Asn	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_001017437	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	381	0.17445054945054944	70	0.14227642276422764	57	0.1574585635359116	71	0.12412587412587413	183	0.24142480211081793	G	35	5.588928	0.96590	0.151384	0.256279	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.54479	0.57;1.46;1.46;1.09;1.09	5.25	5.25	0.73442	.	.	.	.	.	T	0.00039	0.0001	M	0.61703	1.905	0.09310	P	1.0	D	0.89917	1.0	D	0.97110	1.0	T	0.00076	-1.2119	8	0.41790	T	0.15	-20.5084	17.3819	0.87407	0.0:0.0:1.0:0.0	rs740223;rs13055115;rs17736500;rs52830809;rs740223	51	Q569K6	CC157_HUMAN	N	51	ENSP00000382720:D51N;ENSP00000385357:D51N;ENSP00000343087:D51N;ENSP00000387491:D51N;ENSP00000401837:D51N	ENSP00000343087:D51N	D	+	1	0	CCDC157	29092140	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.060000	0.93907	2.613000	0.88420	0.455000	0.32223	GAC	G|0.814;A|0.186	0.186	strong		0.647	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30762140	G	A	30762140	3	1	22	1	0	0	0	0	1	0	0	0	2789	1058	37	1	153	1	CCDC157	22	30762140	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	145	30762140	20542426	10886	15994										
CCDC157	550631	hgsc.bcm.edu	37	chr22	30765502	30765502	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgccccctgcacaggctgcGgggccctgcatgtccgtggg	15	15	0	0	rs5749080	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30765502G>C	ENST00000405659.1	+	4	1039	c.330G>C	c.(328-330)gcG>gcC	p.A110A	CCDC157_ENST00000338306.3_Silent_p.A110A			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	110										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACAGGCTGCGGGGCCCTGCA	0.652													G|||	51	0.0101837	0.0378	0.0014	5008	,	,		17743	0.0		0.0	False		,,,				2504	0.0				p.A110A		Atlas-SNP	.											.	CCDC157	86	.	0			c.G330C						PASS	.						41	40	41					22																	30765502		2203	4300	6503	SO:0001819	synonymous_variant	550631	exon4			GGCTGCGGGGCCC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.330G>C	22.37:g.30765502G>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	107	69	0.64486	NM_001017437	Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																			A|0.198;C|0.000;G|0.802	0.000	strong		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		C	30765502	G	C	30765502	2	2	22	1	0	0	0	0	0	0	0	1	2789	1103	39	4		4	CCDC157	22	30765502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3362	30765502	20539064	10887	15995										
CCDC157	550631	hgsc.bcm.edu	37	chr22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagccctgcacatccccaTctcggcagccctgcagccag	10	19	1	0	rs202178544	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15299	0.0		0.0	False		,,,				2504	0.0				p.S698P		Atlas-SNP	.											CCDC157_ENST00000405659,bladder,carcinoma,0,4	CCDC157	86	4	0			c.T2092C						PASS	.						71	79	76					22																	30772567		2203	4300	6503	SO:0001583	missense	550631	exon12			TCCCCATCTCGGC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2092T>C	22.37:g.30772567T>C	ENSP00000385357:p.Ser698Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	125	15	0.12	NM_001017437	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619980	0.14193	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39229	1.09;1.09	3.04	-2.83	0.05769	.	1.188910	0.06203	N	0.683596	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.25106	T	0.35	-1.9381	7.0241	0.24930	0.0:0.3799:0.0:0.6201	.	698	Q569K6	CC157_HUMAN	P	698	ENSP00000385357:S698P;ENSP00000343087:S698P	ENSP00000343087:S698P	S	+	1	0	CCDC157	29102567	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	-0.341000	0.07811	-0.707000	0.05022	-0.415000	0.06103	TCT	.	.	weak		0.667	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		C	30772567	T	C	30772567	3	2	22	1	0	0	0	0	1	0	0	0	2789	1435	50	2	2130	2	CCDC157	22	30772567	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	7065	30772567	20531999	10888	15996										
MTP18	51537	hgsc.bcm.edu	37	chr22	30824659	30824660	+	3'UTR	INS	-	-	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgagctggacagaagcttINSagagacaaaggcttcaagaa					rs527818803|rs149958301	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30824659_30824660insA	ENST00000266263.5	+	0	989_990				MTFP1_ENST00000407550.3_3'UTR|RP4-539M6.19_ENST00000439838.1_3'UTR|MTFP1_ENST00000355143.4_Stop_Codon_Ins	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1						apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						GACAGAAGCTTAGAGACAAAGG	0.559													A|A|AA|insertion	54	0.0107827	0.0393	0.0029	5008	,	,		20262	0.0		0.0	False		,,,				2504	0.0				p.X136delinsX		Pindel,Atlas-Indel	.											.	MTFP1	7	.	0			c.406_407insA						PASS	.		,	105,4159		0,105,2027					,	-0.6	0		dbSNP_134	38	1,8253		0,1,4126	yes	utr-3,frameshift	MTFP1	NM_016498.4,NM_001003704.2	,	0,106,6153	A1A1,A1R,RR		0.0121,2.4625,0.8468	,	,		106,12412				SO:0001624	3_prime_UTR_variant	51537	exon3			.	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.*139->A	22.37:g.30824660_30824660dupA		Somatic	72	.	.		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_001003704	A6NFQ5|Q9H3K1|Q9P0N6	Frame_Shift_Ins	INS	ENST00000266263.5	37	CCDS33635.1																																																																																			-|0.993;A|0.007	0.007	strong		0.559	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3	NM_016498		A	30824660	-	A	30824659	6	5	22	0	1	1	1	0	0	0	0	0	9955	1767	61	0		0	MTP18	22	30824659	3'UTR	INS	-	TCGA-G8-6324-01A-11D-2210-10	52092	30824659	20479907	10889	15997										
SEC14L3	266629	hgsc.bcm.edu	37	chr22	30857448	30857448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgaagccgatgtccgcaccAtcagatgagaactgccacct	9	15	1	2	rs5749104	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30857448A>G	ENST00000215812.4	-	11	1020	c.930T>C	c.(928-930)gaT>gaC	p.D310D	SEC14L3_ENST00000401751.1_Silent_p.D251D|SEC14L3_ENST00000415957.2_Silent_p.D251D|SEC14L3_ENST00000539629.1_Silent_p.D251D|SEC14L3_ENST00000402286.1_Silent_p.D233D|SEC14L3_ENST00000403066.1_Silent_p.D251D|SEC14L3_ENST00000540910.1_Silent_p.D233D	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	310	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGTCCGCACCATCAGATGAGA	0.597													G|||	3866	0.771965	0.9138	0.5648	5008	,	,		18876	0.8601		0.5785	False		,,,				2504	0.8354				p.D310D	Esophageal Squamous(108;290 1516 3584 23771 37333)	Atlas-SNP	.											.	SEC14L3	46	.	0			c.T930C						PASS	.	G		3772,634	273.1+/-271.2	1604,564,35	54	50	51		930	-4.8	0	22	dbSNP_114	51	5018,3582	519.2+/-379.4	1454,2110,736	no	coding-synonymous	SEC14L3	NM_174975.4		3058,2674,771	GG,GA,AA		41.6512,14.3895,32.4158		310/401	30857448	8790,4216	2203	4300	6503	SO:0001819	synonymous_variant	266629	exon11			CGCACCATCAGAT	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.930T>C	22.37:g.30857448A>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	141	61	0.432624	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	CCDS13877.1																																																																																			A|0.276;G|0.724	0.724	strong		0.597	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		G	30857448	A	G	30857448	2	3	22	1	0	0	0	0	0	0	0	1	13983	214	8	2		2	SEC14L3	22	30857448	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	32789	30857448	20447118	10890	15998										
SEC14L3	266629	hgsc.bcm.edu	37	chr22	30860831	30860831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacacaataattttcctgcGagtgtcctcactcaggaatg	7	11	2	0	rs115090125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30860831G>A	ENST00000215812.4	-	8	730	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	SEC14L3_ENST00000539629.1_Missense_Mutation_p.R155C|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R137C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R137C|SEC14L3_ENST00000403066.1_Missense_Mutation_p.R155C|SEC14L3_ENST00000415957.2_Missense_Mutation_p.R155C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R155C	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	214	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		R -> H (in dbSNP:rs2269961).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATTTTCCTGCGAGTGTCCTCA	0.443													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		23216	0.0		0.0	False		,,,				2504	0.0				p.R214C	Esophageal Squamous(108;290 1516 3584 23771 37333)	Atlas-SNP	.											.	SEC14L3	46	.	0			c.C640T						PASS	.	G	CYS/ARG	34,4372	40.0+/-72.8	0,34,2169	179	154	162		640	4.4	1	22	dbSNP_132	162	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SEC14L3	NM_174975.4	180	0,35,6468	AA,AG,GG		0.0116,0.7717,0.2691	probably-damaging	214/401	30860831	35,12971	2203	4300	6503	SO:0001583	missense	266629	exon8			TCCTGCGAGTGTC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.640C>T	22.37:g.30860831G>A	ENSP00000215812:p.Arg214Cys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	148	75	0.506757	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.1	3.931583	0.73442	0.007717	1.16E-4	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.5	4.43	0.53597	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	D	0.90030	0.4134	10	0.87932	D	0	-11.635	14.7515	0.69530	0.0:0.0:0.8547:0.1453	.	137;214	E9PE57;Q9UDX4	.;S14L3_HUMAN	C	155;155;214;137;155;155;137	ENSP00000385941:R155C;ENSP00000401864:R155C;ENSP00000215812:R214C;ENSP00000385004:R137C;ENSP00000383896:R155C;ENSP00000444691:R155C;ENSP00000439752:R137C	ENSP00000215812:R214C	R	-	1	0	SEC14L3	29190831	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	4.312000	0.59154	2.593000	0.87608	0.655000	0.94253	CGC	G|0.997;A|0.003	0.003	strong		0.443	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		A	30860831	G	A	30860831	3	1	22	1	0	0	0	0	1	0	0	0	13983	1058	37	1	582	1	SEC14L3	22	30860831	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3383	30860831	20443735	10891	15999										
SEC14L3	266629	hgsc.bcm.edu	37	chr22	30864545	30864545	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcgctcacagtccctcaTcttggtcttgagcaggtcct	10	13	4	1	rs115380280	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30864545T>A	ENST00000215812.4	-	5	463	c.373A>T	c.(373-375)Atg>Ttg	p.M125L	SEC14L3_ENST00000539629.1_Missense_Mutation_p.M66L|SEC14L3_ENST00000540910.1_Missense_Mutation_p.M48L|SEC14L3_ENST00000402286.1_Missense_Mutation_p.M48L|SEC14L3_ENST00000403066.1_Missense_Mutation_p.M66L|SEC14L3_ENST00000415957.2_Missense_Mutation_p.M66L|SEC14L3_ENST00000401751.1_Missense_Mutation_p.M66L	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	125	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAGTCCCTCATCTTGGTCTTG	0.602													T|||	18	0.00359425	0.0129	0.0014	5008	,	,		18253	0.0		0.0	False		,,,				2504	0.0				p.M125L	Esophageal Squamous(108;290 1516 3584 23771 37333)	Atlas-SNP	.											.	SEC14L3	46	.	0			c.A373T						PASS	.	T	LEU/MET	33,4373	39.2+/-71.8	0,33,2170	176	130	145		373	4.6	1	22	dbSNP_132	145	0,8600		0,0,4300	yes	missense	SEC14L3	NM_174975.4	15	0,33,6470	AA,AT,TT		0.0,0.749,0.2537	benign	125/401	30864545	33,12973	2203	4300	6503	SO:0001583	missense	266629	exon5			CCCTCATCTTGGT	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.373A>T	22.37:g.30864545T>A	ENSP00000215812:p.Met125Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	113	57	0.504425	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	10.11|10.11	1.260683|1.260683	0.23051|0.23051	0.00749|0.00749	0.0|0.0	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910|ENST00000435069	T;T;T;T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69|.	4.55|4.55	4.55|4.55	0.56014|0.56014	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.222920|.	0.48286|.	D|.	0.000195|.	T|T	0.25754|0.25754	0.0627|0.0627	N|N	0.05592|0.05592	-0.015|-0.015	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.11251|0.11251	-1.0595|-1.0595	10|5	0.15952|.	T|.	0.53|.	-18.6063|-18.6063	9.2656|9.2656	0.37639|0.37639	0.205:0.0:0.0:0.795|0.205:0.0:0.0:0.795	.|.	48;125|.	E9PE57;Q9UDX4|.	.;S14L3_HUMAN|.	L|S	66;66;125;48;66;66;48|90	ENSP00000385941:M66L;ENSP00000401864:M66L;ENSP00000215812:M125L;ENSP00000385004:M48L;ENSP00000383896:M66L;ENSP00000444691:M66L;ENSP00000439752:M48L|.	ENSP00000215812:M125L|.	M|R	-|-	1|3	0|2	SEC14L3|SEC14L3	29194545|29194545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.513000|3.513000	0.53414|0.53414	1.810000|1.810000	0.52873|0.52873	0.519000|0.519000	0.50382|0.50382	ATG|AGA	T|0.998;A|0.002	0.002	strong		0.602	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		A	30864545	T	A	30864545	3	1	22	1	0	0	0	0	1	0	0	0	13983	1435	50	5	861	5	SEC14L3	22	30864545	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3714	30864545	20440021	10892	16000										
GAL3ST1	9514	hgsc.bcm.edu	37	chr22	30953295	30953295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggcacggcataggagtacaCcagcagcaggaaactagtga	14	9	0	1	rs2267161	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30953295C>T	ENST00000402321.1	-	2	402	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V29M|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V29M|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V29M			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	29			V -> M (in dbSNP:rs2267161). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TAGGAGTACACCAGCAGCAGG	0.652													C|||	1552	0.309904	0.3646	0.2536	5008	,	,		17788	0.3502		0.326	False		,,,				2504	0.2178				p.V29M		Atlas-SNP	.											.	GAL3ST1	44	.	0			c.G85A						PASS	.	C	MET/VAL	1647,2759	502.0+/-365.1	326,995,882	89	91	91		85	1.1	0.9	22	dbSNP_100	91	2732,5868	436.8+/-358.4	420,1892,1988	yes	missense	GAL3ST1	NM_004861.1	21	746,2887,2870	TT,TC,CC		31.7674,37.3808,33.6691	benign	29/424	30953295	4379,8627	2203	4300	6503	SO:0001583	missense	9514	exon3			AGTACACCAGCAG	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.85G>A	22.37:g.30953295C>T	ENSP00000385735:p.Val29Met	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	347	172	0.495677	NM_004861	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	691	0.3163919413919414	167	0.3394308943089431	90	0.24861878453038674	197	0.34440559440559443	237	0.31266490765171506	C	13.74	2.327313	0.41197	0.373808	0.317674	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.58	1.09	0.20402	.	0.269973	0.36268	N	0.002686	T	0.00012	0.0000	N	0.14661	0.345	0.09310	P	0.9999999999999958	B	0.25904	0.137	B	0.29716	0.106	T	0.49495	-0.8934	9	0.33141	T	0.24	-10.4855	7.6791	0.28502	0.2039:0.1191:0.677:0.0	rs2267161;rs17845430;rs17856591;rs17858302;rs61593263;rs2267161	29	Q99999	G3ST1_HUMAN	M	29	ENSP00000385825:V29M;ENSP00000385735:V29M;ENSP00000384122:V29M;ENSP00000384388:V29M;ENSP00000343234:V29M;ENSP00000385207:V29M;ENSP00000402587:V29M;ENSP00000390545:V29M;ENSP00000395080:V29M;ENSP00000405017:V29M;ENSP00000401426:V29M;ENSP00000391485:V29M;ENSP00000397092:V29M;ENSP00000391996:V29M;ENSP00000405381:V29M;ENSP00000401074:V29M;ENSP00000389876:V29M;ENSP00000398380:V29M;ENSP00000414542:V29M;ENSP00000412995:V29M;ENSP00000394912:V29M;ENSP00000399649:V29M;ENSP00000390068:V29M	ENSP00000343234:V29M	V	-	1	0	GAL3ST1	29283295	1.000000	0.71417	0.931000	0.37212	0.726000	0.41606	1.007000	0.29860	0.316000	0.23135	-0.147000	0.13772	GTG	C|0.671;T|0.329	0.329	strong		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		T	30953295	C	T	30953295	3	4	22	1	0	0	0	0	1	0	0	0	6197	507	18	2	1194	2	GAL3ST1	22	30953295	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88750	30953295	20351271	10893	16001										
PES1	23481	hgsc.bcm.edu	37	chr22	30977353	30977353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcggagtccaacgcgtaggTgccctcaccggcctttgcct	11	16	1	0	rs42942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:30977353T>A	ENST00000405677.1	-	10	1316	c.373A>T	c.(373-375)Acc>Tcc	p.T125S	PES1_ENST00000402281.1_Missense_Mutation_p.T125S|PES1_ENST00000402284.3_Missense_Mutation_p.T247S|PES1_ENST00000354694.7_Missense_Mutation_p.T264S|PES1_ENST00000335214.6_Missense_Mutation_p.T264S	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AACGCGTAGGTGCCCTCACCG	0.622													T|||	175	0.0349441	0.0908	0.0231	5008	,	,		15562	0.0		0.0268	False		,,,				2504	0.0123				p.T264S		Atlas-SNP	.											.	PES1	55	.	0			c.A790T						PASS	.	T	SER/THR	380,4026	190.5+/-216.4	16,348,1839	65	60	61		790	0.1	0	22	dbSNP_76	61	362,8238	120.6+/-179.8	5,352,3943	yes	missense	PES1	NM_014303.3	58	21,700,5782	AA,AT,TT		4.2093,8.6246,5.7051	benign	264/589	30977353	742,12264	2203	4300	6503	SO:0001583	missense	23481	exon8			CGTAGGTGCCCTC	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.373A>T	22.37:g.30977353T>A	ENSP00000385654:p.Thr125Ser	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_014303		Missense_Mutation	SNP	ENST00000405677.1	37		72	0.03296703296703297	40	0.08130081300813008	8	0.022099447513812154	0	0.0	24	0.0316622691292876	T	11.94	1.788469	0.31685	0.086246	0.042093	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.29	0.0496	0.14290	.	0.696719	0.14653	N	0.306448	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B;B;B;B	0.21821	0.061;0.014;0.038;0.061	B;B;B;B	0.24394	0.053;0.033;0.023;0.053	T	0.14868	-1.0457	10	0.18710	T	0.47	-7.1103	9.8476	0.41037	0.0:0.4591:0.0:0.5409	rs42942;rs58665418;rs42942	264;247;264;264	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	S	264;125;125;247;264	ENSP00000346725:T264S;ENSP00000384366:T125S;ENSP00000385654:T125S;ENSP00000384252:T247S;ENSP00000334612:T264S	ENSP00000334612:T264S	T	-	1	0	PES1	29307353	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.359000	0.07632	0.038000	0.15604	0.459000	0.35465	ACC	T|0.948;A|0.052	0.052	strong		0.622	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		A	30977353	T	A	30977353	3	1	22	1	0	0	0	0	1	0	0	0	11733	1696	59	5	1008	5	PES1	22	30977353	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	24058	30977353	20327213	10894	16002										
TCN2	6948	hgsc.bcm.edu	37	chr22	31011350	31011350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcaaacttcaaccctggtCggagacaacggatcaccatg	9	13	3	1	rs35838082	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31011350C>T	ENST00000215838.3	+	5	1137	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	TCN2_ENST00000405742.3_Missense_Mutation_p.R211W|TCN2_ENST00000407817.3_Missense_Mutation_p.R188W			P20062	TCO2_HUMAN	transcobalamin II	215			R -> W (in dbSNP:rs35838082).		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACCCTGGTCGGAGACAACG	0.557													C|||	365	0.0728834	0.2443	0.0159	5008	,	,		21382	0.001		0.006	False		,,,				2504	0.0245				p.R215W		Atlas-SNP	.											.	TCN2	44	.	0			c.C643T						PASS	.	C	TRP/ARG,TRP/ARG	1044,3362	382.1+/-324.3	124,796,1283	87	77	81		643,562	5.8	0	22	dbSNP_126	81	58,8542	35.9+/-90.5	0,58,4242	yes	missense,missense	TCN2	NM_000355.3,NM_001184726.1	101,101	124,854,5525	TT,TC,CC		0.6744,23.695,8.473	probably-damaging,probably-damaging	215/428,188/401	31011350	1102,11904	2203	4300	6503	SO:0001583	missense	6948	exon5			CCTGGTCGGAGAC		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.643C>T	22.37:g.31011350C>T	ENSP00000215838:p.Arg215Trp	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	208	208	1	NM_000355	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	126	0.057692307692307696	115	0.23373983739837398	5	0.013812154696132596	0	0.0	6	0.0079155672823219	C	20.4	3.985921	0.74589	0.23695	0.006744	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.15952	2.38;2.38;2.38	5.82	5.82	0.92795	.	0.978539	0.08426	N	0.947638	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.9999999999999691	D;D;D	0.60575	0.975;0.988;0.988	P;P;P	0.51229	0.663;0.559;0.559	T	0.48525	-0.9028	9	0.62326	D	0.03	-1.0E-4	17.0097	0.86403	0.0:1.0:0.0:0.0	rs35838082;rs61224137	188;211;215	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	W	215;211;188	ENSP00000215838:R215W;ENSP00000385914:R211W;ENSP00000384914:R188W	ENSP00000215838:R215W	R	+	1	2	TCN2	29341350	0.001000	0.12720	0.009000	0.14445	0.013000	0.08279	1.271000	0.33098	2.756000	0.94617	0.561000	0.74099	CGG	C|0.925;T|0.075	0.075	strong		0.557	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		T	31011350	C	T	31011350	3	4	22	1	0	0	0	0	1	0	0	0	15704	875	31	1	661	1	TCN2	22	31011350	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33997	31011350	20293216	10895	16003										
SLC35E4	339665	hgsc.bcm.edu	37	chr22	31032881	31032881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accacacctctgttcaccctGgccctgtcggcgctgctgct	9	18	2	0	rs8136373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31032881G>A	ENST00000343605.4	+	1	1243	c.444G>A	c.(442-444)ctG>ctA	p.L148L	SLC35E4_ENST00000406566.1_Silent_p.L148L|SLC35E4_ENST00000300385.8_Silent_p.L148L	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	148	EamA.|Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGTTCACCCTGGCCCTGTCGG	0.677													G|||	440	0.0878594	0.2988	0.0303	5008	,	,		14087	0.0		0.0149	False		,,,				2504	0.0092				p.L148L		Atlas-SNP	.											.	SLC35E4	22	.	0			c.G444A						PASS	.	G		1219,3185	391.9+/-328.3	165,889,1148	65	36	46		444	5.2	1	22	dbSNP_116	46	171,8429	72.9+/-135.5	1,169,4130	no	coding-synonymous	SLC35E4	NM_001001479.2		166,1058,5278	AA,AG,GG		1.9884,27.6794,10.689		148/351	31032881	1390,11614	2202	4300	6502	SO:0001819	synonymous_variant	339665	exon1			CACCCTGGCCCTG		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.444G>A	22.37:g.31032881G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	39	38	0.974359	NM_001001479	Q567P0	Silent	SNP	ENST00000343605.4	37	CCDS13882.1																																																																																			G|0.900;A|0.100	0.100	strong		0.677	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		A	31032881	G	A	31032881	2	1	22	1	0	0	0	0	0	0	0	1	14587	1335	47	2		2	SLC35E4	22	31032881	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21531	31032881	20271685	10896	16004										
OSBP2	23762	hgsc.bcm.edu	37	chr22	31091064	31091064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccaagccccagccccagccCgtgcccgaaccggagcgggg	13	20	0	0	rs41279967	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31091064C>T	ENST00000332585.6	+	1	272	c.168C>T	c.(166-168)ccC>ccT	p.P56P	OSBP2_ENST00000382310.3_Silent_p.P56P|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.P56P	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	56					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCCCCAGCCCGTGCCCGAAC	0.692													c|||	540	0.107827	0.2746	0.0735	5008	,	,		9026	0.0		0.0885	False		,,,				2504	0.0378				p.P56P		Atlas-SNP	.											.	OSBP2	52	.	0			c.C168T						PASS	.			908,3008		102,704,1152	13	17	16		168	-7.6	0	22	dbSNP_127	16	678,7630		23,632,3499	no	coding-synonymous	OSBP2	NM_030758.3		125,1336,4651	TT,TC,CC		8.1608,23.1869,12.9745		56/917	31091064	1586,10638	1958	4154	6112	SO:0001819	synonymous_variant	23762	exon1			CCAGCCCGTGCCC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.168C>T	22.37:g.31091064C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	58	38	0.655172	NM_030758	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																			C|0.888;T|0.112	0.112	strong		0.692	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		T	31091064	C	T	31091064	2	4	22	1	0	0	0	0	0	0	0	1	11274	639	23	1		1	OSBP2	22	31091064	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	58183	31091064	20213502	10897	16005										
OSBP2	23762	hgsc.bcm.edu	37	chr22	31091139	31091139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcagtgccaagatcggaAcctgtgtccgagacgacgtc	14	11	0	2	rs13053290	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31091139A>G	ENST00000332585.6	+	1	347	c.243A>G	c.(241-243)gaA>gaG	p.E81E	OSBP2_ENST00000382310.3_Silent_p.E81E|OSBP2_ENST00000446658.2_Silent_p.E81E|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	81					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAAGATCGGAACCTGTGTCCG	0.682													g|||	1261	0.251797	0.525	0.2104	5008	,	,		11206	0.004		0.2972	False		,,,				2504	0.1207				p.E81E		Atlas-SNP	.											OSBP2,NS,carcinoma,0,1	OSBP2	52	1	0			c.A243G						PASS	.	T		1980,2314		487,1006,654	30	40	37		243	-0.1	0	22	dbSNP_121	37	2443,6075		333,1777,2149	no	coding-synonymous	OSBP2	NM_030758.3		820,2783,2803	GG,GA,AA		28.6804,46.1109,34.5223		81/917	31091139	4423,8389	2147	4259	6406	SO:0001819	synonymous_variant	23762	exon1			ATCGGAACCTGTG		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.243A>G	22.37:g.31091139A>G		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	145	145	1	NM_030758	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																			A|0.726;G|0.274	0.274	strong		0.682	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		G	31091139	A	G	31091139	2	3	22	1	0	0	0	0	0	0	0	1	11274	40	2	2		2	OSBP2	22	31091139	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	75	31091139	20213427	10898	16006										
SMTN	6525	hgsc.bcm.edu	37	chr22	31492781	31492781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggccggccaggggaggggCgcggcaacacagccactgag	20	12	0	1	rs34292278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31492781C>T	ENST00000347557.2	+	14	2142	c.1924C>T	c.(1924-1926)Cgc>Tgc	p.R642C	SMTN_ENST00000358743.1_Missense_Mutation_p.R642C|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000333137.7_Missense_Mutation_p.R642C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	642			R -> C (in dbSNP:rs34292278).		muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGGGGAGGGGCGCGGCAACAC	0.682																																					p.R727C		Atlas-SNP	.											.	SMTN	219	.	0			c.C2179T						PASS	.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	942,3464	329.9+/-301.2	98,746,1359	38	42	41		2179,2092,1924,1924,1924	4.5	0.9	22	dbSNP_126	41	4,8596	3.0+/-9.4	0,4,4296	no	missense,missense,missense,missense,missense	SMTN	NM_001207017.1,NM_001207018.1,NM_006932.4,NM_134269.2,NM_134270.2	180,180,180,180,180	98,750,5655	TT,TC,CC		0.0465,21.3799,7.2736	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	727/1003,698/972,642/918,642/916,642/941	31492781	946,12060	2203	4300	6503	SO:0001583	missense	6525	exon15			GAGGGGCGCGGCA	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1924C>T	22.37:g.31492781C>T	ENSP00000328635:p.Arg642Cys	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	97	53	0.546392	NM_001207017	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	CCDS13886.1	122	0.055860805860805864	115	0.23373983739837398	7	0.019337016574585635	0	0.0	0	0.0	C	14.45	2.540054	0.45176	0.213799	4.65E-4	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.71579	-0.19;-0.58;-0.58	4.51	4.51	0.55191	.	0.508313	0.14906	N	0.291527	T	0.00073	0.0002	L	0.43152	1.355	0.24841	P	0.9924638	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.997;0.999	P;P;P;P;P;P	0.62382	0.634;0.8;0.8;0.708;0.632;0.901	T	0.06716	-1.0811	9	0.87932	D	0	-0.0587	11.2158	0.48825	0.3184:0.6816:0.0:0.0	rs34292278;rs60483618	698;727;665;642;642;642	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	C	642;642;642;640;665	ENSP00000351593:R642C;ENSP00000328635:R642C;ENSP00000329532:R642C	ENSP00000329393:R640C	R	+	1	0	SMTN	29822781	0.932000	0.31603	0.905000	0.35620	0.034000	0.12701	2.597000	0.46214	2.237000	0.73441	0.456000	0.33151	CGC	C|0.929;T|0.071	0.071	strong		0.682	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		T	31492781	C	T	31492781	3	4	22	1	0	0	0	0	1	0	0	0	14814	768	27	1	1974	1	SMTN	22	31492781	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	401642	31492781	19811785	10899	16007										
INPP5J	27124	hgsc.bcm.edu	37	chr22	31529463	31529463	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagatgtggatgggaatacCtaccaggtacttaaaaggag	13	5	0	1	rs35342535	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31529463C>A	ENST00000331075.5	+	11	2452	c.2403C>A	c.(2401-2403)acC>acA	p.T801T	INPP5J_ENST00000404390.3_Silent_p.T433T|INPP5J_ENST00000404453.1_Silent_p.T166T|INPP5J_ENST00000405300.1_Silent_p.T434T|INPP5J_ENST00000401755.1_Silent_p.T166T|INPP5J_ENST00000402238.1_Intron|INPP5J_ENST00000412277.2_Silent_p.T734T|INPP5J_ENST00000400294.2_Silent_p.T434T	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	801	Required for ruffle localization. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						ATGGGAATACCTACCAGGTAC	0.537													C|||	1301	0.259784	0.1906	0.281	5008	,	,		19967	0.0208		0.3877	False		,,,				2504	0.453				p.T433T		Atlas-SNP	.											.	INPP5J	94	.	0			c.C1299A						PASS	.	C		834,3112		86,662,1225	97	95	95		1299	2.3	1	22	dbSNP_126	95	3215,5099		632,1951,1574	no	coding-synonymous	INPP5J	NM_001002837.1		718,2613,2799	AA,AC,CC		38.6697,21.1353,33.0261		433/639	31529463	4049,8211	1973	4157	6130	SO:0001819	synonymous_variant	27124	exon11			GAATACCTACCAG	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2403C>A	22.37:g.31529463C>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	97	54	0.556701	NM_001002837	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37																																																																																				C|0.726;A|0.274	0.274	strong		0.537	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		A	31529463	C	A	31529463	2	1	22	1	0	0	0	0	0	0	0	1	7759	668	24	4		4	INPP5J	22	31529463	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	36682	31529463	19775103	10900	16008										
PLA2G3	50487	hgsc.bcm.edu	37	chr22	31533967	31533967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagcgaggggcactgtgccGtacatcctacacctgggtgg	15	12	0	0	rs2074739	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31533967G>A	ENST00000215885.3	-	4	1047	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	265	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCACTGTGCCGTACATCCTAC	0.637													A|||	2686	0.536342	0.472	0.4395	5008	,	,		16981	0.3948		0.5736	False		,,,				2504	0.7996				p.Y265Y		Atlas-SNP	.											.	PLA2G3	85	.	0			c.C795T						PASS	.	A		2050,2356	599.3+/-389.2	476,1098,629	37	43	41		795	1.6	1	22	dbSNP_96	41	5022,3578	506.9+/-376.7	1475,2072,753	yes	coding-synonymous	PLA2G3	NM_015715.3		1951,3170,1382	AA,AG,GG		41.6047,46.5275,45.6251		265/510	31533967	7072,5934	2203	4300	6503	SO:0001819	synonymous_variant	50487	exon4			TGTGCCGTACATC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.795C>T	22.37:g.31533967G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_015715	O95768	Silent	SNP	ENST00000215885.3	37	CCDS13889.1																																																																																			G|0.488;N|0.000	.	strong		0.637	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		A	31533967	G	A	31533967	2	1	22	1	0	0	0	0	0	0	0	1	12000	1140	40	1		1	PLA2G3	22	31533967	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4504	31533967	19770599	10901	16009										
PLA2G3	50487	hgsc.bcm.edu	37	chr22	31535995	31535995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaagcgctcggcatgcctCccactgactctgaagagtgg	11	14	2	3	rs2074734	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31535995C>G	ENST00000215885.3	-	1	598	c.346G>C	c.(346-348)Gag>Cag	p.E116Q		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	116			E -> Q (in dbSNP:rs2074734).		acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CGGCATGCCTCCCACTGACTC	0.637													C|||	801	0.159944	0.1747	0.134	5008	,	,		17339	0.3909		0.0467	False		,,,				2504	0.0368				p.E116Q		Atlas-SNP	.											.	PLA2G3	85	.	0			c.G346C						PASS	.	C	GLN/GLU	516,3890	219.4+/-237.2	34,448,1721	49	49	49		346	4.3	1	22	dbSNP_96	49	452,8148	128.5+/-186.7	12,428,3860	yes	missense	PLA2G3	NM_015715.3	29	46,876,5581	GG,GC,CC		5.2558,11.7113,7.4427	benign	116/510	31535995	968,12038	2203	4300	6503	SO:0001583	missense	50487	exon1			ATGCCTCCCACTG	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.346G>C	22.37:g.31535995C>G	ENSP00000215885:p.Glu116Gln	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	156	82	0.525641	NM_015715	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	401	0.18360805860805862	94	0.1910569105691057	47	0.1298342541436464	230	0.4020979020979021	30	0.0395778364116095	C	15.79	2.936043	0.52972	0.117113	0.052558	ENSG00000100078	ENST00000215885	T	0.12465	2.68	5.35	4.27	0.50696	.	1.012140	0.07912	N	0.974456	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	D	0.56521	0.976	P	0.47864	0.559	T	0.48559	-0.9025	9	0.38643	T	0.18	-21.121	11.1801	0.48623	0.0:0.8144:0.1856:0.0	rs2074734;rs17820743;rs60301489;rs2074734	116	Q9NZ20	PA2G3_HUMAN	Q	116	ENSP00000215885:E116Q	ENSP00000215885:E116Q	E	-	1	0	PLA2G3	29865995	0.000000	0.05858	0.994000	0.49952	0.714000	0.41099	-0.106000	0.10890	2.513000	0.84729	0.591000	0.81541	GAG	C|0.889;G|0.111	0.111	strong		0.637	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		G	31535995	C	G	31535995	3	3	22	1	0	0	0	0	1	0	0	0	12000	864	30	4	1211	4	PLA2G3	22	31535995	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2028	31535995	19768571	10902	16010										
PATZ1	23598	hgsc.bcm.edu	37	chr22	31737436	31737436	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gccctgctgccctctggggtGgtccagccctgcctcagata	12	16	2	1	rs62236170	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31737436G>A	ENST00000266269.5	-	2	1965				PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron|PATZ1_ENST00000215919.3_Silent_p.T523T	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCTCTGGGGTGGTCCAGCCCT	0.607													G|||	129	0.0257588	0.0424	0.0173	5008	,	,		15931	0.0089		0.0408	False		,,,				2504	0.0112				p.T523T		Atlas-SNP	.											.	PATZ1	24	.	0			c.C1569T						PASS	.	G	,,,	136,4270	97.1+/-135.8	3,130,2070	55	63	60		,,1569,	-2.7	0.2	22	dbSNP_129	60	445,8155	133.1+/-190.7	10,425,3865	no	intron,intron,coding-synonymous,intron	PATZ1	NM_014323.2,NM_032050.1,NM_032051.1,NM_032052.1	,,,	13,555,5935	AA,AG,GG		5.1744,3.0867,4.4672	,,,	,,523/538,	31737436	581,12425	2203	4300	6503	SO:0001627	intron_variant	23598	exon3			TGGGGTGGTCCAG	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1335+1446C>T	22.37:g.31737436G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	120	45	0.375	NM_032051	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	CCDS13894.1																																																																																			G|0.963;A|0.037	0.037	strong		0.607	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		A	31737436	G	A	31737436	1	1	22	0	1	0	0	0	0	0	0	0	11476	1335	47	2		2	PATZ1	22	31737436	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	201441	31737436	19567130	10903	16011										
EIF4ENIF1	56478	hgsc.bcm.edu	37	chr22	31838085	31838085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgatcggcactgggtacagaGctggatgacaggaggttttc	15	8	0	2	rs5997988	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31838085G>A	ENST00000397525.1	-	17	2449	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000330125.5_Silent_p.S742S|EIF4ENIF1_ENST00000397523.1_Silent_p.S718S|EIF4ENIF1_ENST00000382180.2_Silent_p.S397S|EIF4ENIF1_ENST00000344710.5_Silent_p.S568S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	742						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGGTACAGAGCTGGATGACA	0.478													G|||	1621	0.323682	0.4039	0.3026	5008	,	,		18314	0.0377		0.4583	False		,,,				2504	0.3865				p.S742S		Atlas-SNP	.											.	EIF4ENIF1	80	.	0			c.C2226T						PASS	.	G	,,	1863,2543	539.4+/-375.3	388,1087,728	104	109	107		2226,1704,2226	-0.7	0.3	22	dbSNP_114	107	3953,4647	550.0+/-385.6	907,2139,1254	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4ENIF1	NM_001164501.1,NM_001164502.1,NM_019843.3	,,	1295,3226,1982	AA,AG,GG		45.9651,42.2833,44.7178	,,	742/986,568/812,742/986	31838085	5816,7190	2203	4300	6503	SO:0001819	synonymous_variant	56478	exon17			TACAGAGCTGGAT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2226C>T	22.37:g.31838085G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	159	82	0.515723	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																			G|0.611;A|0.389	0.389	strong		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31838085	G	A	31838085	2	1	22	1	0	0	0	0	0	0	0	1	5035	962	34	2		2	EIF4ENIF1	22	31838085	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	100649	31838085	19466481	10904	16012										
SFI1	9814	hgsc.bcm.edu	37	chr22	31946282	31946282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccagacgtggaagacctaTgtgcgtcagcagcaggagat	13	9	1	3	rs16989753	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31946282T>C	ENST00000400288.2	+	6	597	c.492T>C	c.(490-492)taT>taC	p.Y164Y	SFI1_ENST00000432498.1_Silent_p.Y164Y|SFI1_ENST00000443326.1_Silent_p.Y82Y|SFI1_ENST00000540643.1_Silent_p.Y140Y|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000400289.1_Silent_p.Y82Y|SFI1_ENST00000443011.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	164					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGAAGACCTATGTGCGTCAGC	0.463													C|||	138	0.0275559	0.0492	0.013	5008	,	,		21780	0.0089		0.0368	False		,,,				2504	0.0184				p.Y164Y		Atlas-SNP	.											.	SFI1	78	.	0			c.T492C						PASS	.	C	,	195,3737		9,177,1780	107	100	102		492,492	-5.4	0	22	dbSNP_123	102	417,7889		10,397,3746	no	coding-synonymous,coding-synonymous	SFI1	NM_001007467.1,NM_014775.2	,	19,574,5526	CC,CT,TT		5.0205,4.9593,5.0008	,	164/1243,164/1212	31946282	612,11626	1966	4153	6119	SO:0001819	synonymous_variant	9814	exon6			GACCTATGTGCGT	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.492T>C	22.37:g.31946282T>C		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	140	65	0.464286	NM_001007467	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	CCDS43004.1																																																																																			T|0.966;C|0.034	0.034	strong		0.463	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		C	31946282	T	C	31946282	2	2	22	1	0	0	0	0	0	0	0	1	14156	1471	51	2		2	SFI1	22	31946282	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	108197	31946282	19358284	10905	16013										
SFI1	9814	hgsc.bcm.edu	37	chr22	31998612	31998612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccatccttcacgcagagcGacagcttctgtataggtctt	10	12	3	1	rs2006771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:31998612G>A	ENST00000400288.2	+	17	1751	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	SFI1_ENST00000432498.1_Missense_Mutation_p.R518Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R467Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R396Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R494Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R467Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R396Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	549			R -> Q (in dbSNP:rs2006771). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CACGCAGAGCGACAGCTTCTG	0.557													G|||	1762	0.351837	0.4138	0.3847	5008	,	,		21320	0.12		0.4612	False		,,,				2504	0.3712				p.R549Q		Atlas-SNP	.											.	SFI1	78	.	0			c.G1646A						PASS	.	G	GLN/ARG,GLN/ARG	1797,2479		413,971,754	85	93	91		1646,1553	-3.7	0.4	22	dbSNP_92	91	3934,4548		920,2094,1227	yes	missense,missense	SFI1	NM_001007467.1,NM_014775.2	43,43	1333,3065,1981	AA,AG,GG		46.3806,42.0253,44.9208	benign,benign	549/1243,518/1212	31998612	5731,7027	2138	4241	6379	SO:0001583	missense	9814	exon17			CAGAGCGACAGCT	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1646G>A	22.37:g.31998612G>A	ENSP00000383145:p.Arg549Gln	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	215	121	0.562791	NM_001007467	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	764	0.3498168498168498	200	0.4065040650406504	153	0.42265193370165743	70	0.12237762237762238	341	0.449868073878628	G	10.70	1.424511	0.25639	0.420253	0.463806	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.82	-3.74	0.04385	.	0.885835	0.10024	N	0.725566	T	0.00012	0.0000	N	0.08118	0	0.51482	P	7.199999999996098E-5	B;B;B;B;B;P	0.40931	0.023;0.115;0.41;0.138;0.236;0.733	B;B;B;B;B;B	0.30572	0.011;0.031;0.053;0.011;0.047;0.117	T	0.41179	-0.9523	9	0.11485	T	0.65	.	11.6767	0.51434	0.7757:0.0:0.2243:0.0	rs2006771;rs52793824;rs61276509;rs2006771	494;467;467;518;549;525	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	Q	518;494;467;525;396;396;467;549;164	ENSP00000402679:R518Q;ENSP00000443025:R494Q;ENSP00000416469:R467Q;ENSP00000397148:R396Q;ENSP00000401199:R396Q;ENSP00000383146:R467Q;ENSP00000383145:R549Q;ENSP00000398871:R164Q	ENSP00000383145:R549Q	R	+	2	0	SFI1	30328612	0.018000	0.18449	0.428000	0.26697	0.574000	0.36063	-0.421000	0.07053	-0.393000	0.07739	0.561000	0.74099	CGA	G|0.614;A|0.386	0.386	strong		0.557	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		A	31998612	G	A	31998612	3	1	22	1	0	0	0	0	1	0	0	0	14156	1058	37	1	1708	1	SFI1	22	31998612	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52330	31998612	19305954	10906	16014										
SFI1	9814	hgsc.bcm.edu	37	chr22	32014161	32014161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagctgaacagagaggagccGgggcctgaggaccaggaagt	18	8	0	3	rs55735011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32014161G>A	ENST00000400288.2	+	32	3678	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	SFI1_ENST00000540643.1_Silent_p.P1136P|SFI1_ENST00000474741.1_Intron|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000432498.1_Silent_p.P1160P|SFI1_ENST00000443326.1_Silent_p.P1109P|SFI1_ENST00000400289.1_Silent_p.P1109P|SFI1_ENST00000443011.1_Silent_p.P1038P|SFI1_ENST00000414585.1_3'UTR	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1191					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GAGAGGAGCCGGGGCCTGAGG	0.677													G|||	273	0.0545128	0.0915	0.0216	5008	,	,		17595	0.0069		0.0368	False		,,,				2504	0.0951				p.P1191P		Atlas-SNP	.											SFI1,NS,carcinoma,0,1	SFI1	78	1	0			c.G3573A						PASS	.	G	,	231,3733		7,217,1758	23	29	27		3573,3480	-4.4	0	22	dbSNP_129	27	232,8116		3,226,3945	no	coding-synonymous,coding-synonymous	SFI1	NM_001007467.1,NM_014775.2	,	10,443,5703	AA,AG,GG		2.7791,5.8274,3.7606	,	1191/1243,1160/1212	32014161	463,11849	1982	4174	6156	SO:0001819	synonymous_variant	9814	exon32			GGAGCCGGGGCCT	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3573G>A	22.37:g.32014161G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	192	92	0.479167	NM_001007467	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	CCDS43004.1																																																																																			G|0.959;A|0.041	0.041	strong		0.677	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		A	32014161	G	A	32014161	2	1	22	1	0	0	0	0	0	0	0	1	14156	1103	39	1		1	SFI1	22	32014161	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	15549	32014161	19290405	10907	16015										
PISD	23761	hgsc.bcm.edu	37	chr22	32015766	32015766	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctctattggtgtgcgtcacGaagctgaagtcattgtagga	12	7	3	1	rs41282571	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32015766G>A	ENST00000439502.2	-	8	1285	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	PISD_ENST00000336566.4_Silent_p.F353F|PISD_ENST00000397500.1_3'UTR|PISD_ENST00000478893.1_5'Flank|PISD_ENST00000382151.2_Silent_p.F320F|PISD_ENST00000266095.5_Silent_p.F320F			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	354					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCGTCACGAAGCTGAAGT	0.612													G|||	181	0.0361422	0.0234	0.0187	5008	,	,		20115	0.0069		0.0368	False		,,,				2504	0.0951				p.F320F		Atlas-SNP	.											.	PISD	53	.	0			c.C960T						PASS	.	G		90,4316	76.2+/-114.5	0,90,2113	163	125	138		960	-1.6	1	22	dbSNP_127	138	245,8355	97.2+/-158.9	3,239,4058	no	coding-synonymous	PISD	NM_014338.3		3,329,6171	AA,AG,GG		2.8488,2.0427,2.5757		320/376	32015766	335,12671	2203	4300	6503	SO:0001819	synonymous_variant	23761	exon9			CGTCACGAAGCTG		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1062C>T	22.37:g.32015766G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	232	110	0.474138	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37		58	0.026556776556776556	15	0.03048780487804878	10	0.027624309392265192	3	0.005244755244755245	30	0.0395778364116095	G	4.359	0.066221	0.08388	0.020427	0.028488	ENSG00000241878	ENST00000435900	.	.	.	4.88	-1.64	0.08318	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29274	-1.0017	4	.	.	.	-24.3787	9.3904	0.38370	0.5267:0.0:0.4733:0.0	rs41282571;rs61747366	.	.	.	L	307	.	.	S	-	2	0	PISD	30345766	1.000000	0.71417	0.970000	0.41538	0.458000	0.32498	0.891000	0.28309	-0.578000	0.05959	-0.216000	0.12614	TCG	A|0.028;C|0.000;G|0.972	0.028	strong		0.612	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			A	32015766	G	A	32015766	2	1	22	1	0	0	0	0	0	0	0	1	11946	1049	37	1		1	PISD	22	32015766	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1605	32015766	19288800	10908	16016										
C22orf30	253143	hgsc.bcm.edu	37	chr22	32109305	32109305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcttcgcaaaggcaccaTgtatttgatcacacccagca	6	13	2	1	rs112331962	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32109305T>C	ENST00000327423.6	-	4	4709	c.4520A>G	c.(4519-4521)cAt>cGt	p.H1507R	PRR14L_ENST00000434485.1_Missense_Mutation_p.H1507R|PRR14L_ENST00000397493.2_Missense_Mutation_p.H1507R	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1507										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAAGGCACCATGTATTTGATC	0.473													T|||	191	0.038139	0.1377	0.013	5008	,	,		19854	0.0		0.0	False		,,,				2504	0.0				p.H1507R		Atlas-SNP	.											.	PRR14L	198	.	0			c.A4520G						PASS	.	T	ARG/HIS	138,1246		3,132,557	169	140	149		4520	-0.7	0	22	dbSNP_132	149	3,3179		0,3,1588	yes	missense	PRR14L	NM_173566.2	29	3,135,2145	CC,CT,TT		0.0943,9.9711,3.088	benign	1507/2152	32109305	141,4425	692	1591	2283	SO:0001583	missense	253143	exon4			GCACCATGTATTT	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4520A>G	22.37:g.32109305T>C	ENSP00000331845:p.His1507Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	100	50	0.5	NM_173566	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	66	0.03021978021978022	63	0.12804878048780488	3	0.008287292817679558	0	0.0	0	0.0	T	3.362	-0.130293	0.06753	0.099711	9.43E-4	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.05786	3.39;3.41;3.4	5.59	-0.745	0.11098	.	0.617385	0.14488	N	0.316502	T	0.00039	0.0001	L	0.44542	1.39	0.09310	N	1	B;B;B	0.12013	0.003;0.003;0.005	B;B;B	0.09377	0.004;0.003;0.004	T	0.44892	-0.9298	9	.	.	.	0.0323	1.9244	0.03314	0.1203:0.3338:0.2122:0.3338	.	1507;1507;1507	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	R	1507	ENSP00000380630:H1507R;ENSP00000331845:H1507R;ENSP00000388314:H1507R	.	H	-	2	0	PRR14L	30439305	0.000000	0.05858	0.024000	0.17045	0.610000	0.37248	-1.136000	0.03222	0.073000	0.16731	-1.151000	0.01829	CAT	T|0.975;C|0.025	0.025	strong		0.473	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		C	32109305	T	C	32109305	3	2	22	1	0	0	0	0	1	0	0	0	2142	1464	51	2	1959	2	C22orf30	22	32109305	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	93539	32109305	19195261	10909	16017										
C22orf30	253143	hgsc.bcm.edu	37	chr22	32110163	32110163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcatcatggcaagacatcGactcttttgaggaaattcca	7	9	3	2	rs140078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32110163G>A	ENST00000327423.6	-	4	3851	c.3662C>T	c.(3661-3663)tCg>tTg	p.S1221L	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1221L|PRR14L_ENST00000397493.2_Missense_Mutation_p.S1221L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1221			S -> L (in dbSNP:rs140078).							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCAAGACATCGACTCTTTTGA	0.373											OREG0003535	type=REGULATORY REGION|Gene=AK130944|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A|||	1729	0.345248	0.5847	0.3055	5008	,	,		19890	0.1875		0.2048	False		,,,				2504	0.3569				p.S1221L		Atlas-SNP	.											.	PRR14L	198	.	0			c.C3662T						PASS	.	A	LEU/SER	729,655		195,339,158	210	155	172		3662	-0.9	0	22	dbSNP_78	172	680,2502		80,520,991	yes	missense	PRR14L	NM_173566.2	145	275,859,1149	AA,AG,GG		21.3702,47.3266,30.8585	benign	1221/2152	32110163	1409,3157	692	1591	2283	SO:0001583	missense	253143	exon4			GACATCGACTCTT	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.3662C>T	22.37:g.32110163G>A	ENSP00000331845:p.Ser1221Leu	Somatic	125	0	0	829	WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_173566	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	649	0.29716117216117216	286	0.5813008130081301	104	0.287292817679558	105	0.18356643356643357	154	0.20316622691292877	A	0.005	-2.181697	0.00308	0.526734	0.213702	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.05649	3.41;3.42;3.42	5.53	-0.868	0.10652	.	0.739382	0.11730	N	0.535009	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18555	-1.0333	8	.	.	.	0.8397	8.0433	0.30534	0.362:0.131:0.5069:0.0	rs140078;rs3804091;rs60386080;rs140078	1221;1221;1221	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1221	ENSP00000380630:S1221L;ENSP00000331845:S1221L;ENSP00000388314:S1221L	.	S	-	2	0	PRR14L	30440163	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-0.419000	0.07439	-1.242000	0.01536	TCG	G|0.689;A|0.311	0.311	strong		0.373	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		A	32110163	G	A	32110163	3	1	22	1	0	0	0	0	1	0	0	0	2142	1059	37	1	2817	1	C22orf30	22	32110163	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	858	32110163	19194403	10910	16018										
DEPDC5	9681	hgsc.bcm.edu	37	chr22	32194581	32194581	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttcagagggctttcctcaAggagataattctacctcagc	9	11	4	2	rs16989495	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32194581A>G	ENST00000382112.3	+	13	955	c.885A>G	c.(883-885)caA>caG	p.Q295Q	DEPDC5_ENST00000536766.1_Silent_p.Q267Q|DEPDC5_ENST00000382105.2_Silent_p.Q295Q|DEPDC5_ENST00000535622.1_Silent_p.Q295Q|DEPDC5_ENST00000400242.3_Silent_p.Q295Q|DEPDC5_ENST00000266091.3_Silent_p.Q295Q|DEPDC5_ENST00000400249.2_Silent_p.Q295Q|DEPDC5_ENST00000382111.2_Silent_p.Q295Q|DEPDC5_ENST00000400248.2_Silent_p.Q295Q|DEPDC5_ENST00000400246.1_Silent_p.Q295Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	295					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTTTCCTCAAGGAGATAATT	0.413													a|||	192	0.0383387	0.0242	0.0187	5008	,	,		4706	0.0218		0.0408	False		,,,				2504	0.0859				p.Q295Q		Atlas-SNP	.											.	DEPDC5	266	.	0			c.A885G						PASS	.	A	,,,,	74,3622		0,74,1774	88	76	79		885,885,885,885,885	0.1	1	22	dbSNP_123	79	239,7987		3,233,3877	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,,	3,307,5651	GG,GA,AA		2.9054,2.0022,2.6254	,,,,	295/560,295/1595,295/1604,295/1504,295/1573	32194581	313,11609	1848	4113	5961	SO:0001819	synonymous_variant	9681	exon14			TCCTCAAGGAGAT	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.885A>G	22.37:g.32194581A>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	53	28	0.528302	NM_001242897	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1																																																																																			A|0.965;G|0.035	0.035	strong		0.413	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		G	32194581	A	G	32194581	2	3	22	1	0	0	0	0	0	0	0	1	4442	69	3	3		3	DEPDC5	22	32194581	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84418	32194581	19109985	10911	16019										
C22orf24	25775	hgsc.bcm.edu	37	chr22	32334021	32334021	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaaagacttgtcttttgaTgcagccctgttgtatcctct	7	11	2	2	rs1984388	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32334021T>A	ENST00000248984.3	-	2	198	c.32A>T	c.(31-33)cAt>cTt	p.H11L	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Missense_Mutation_p.H78L	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	11			H -> L (in dbSNP:rs1984388).			integral component of membrane (GO:0016021)		p.H11L(1)		central_nervous_system(1)|urinary_tract(1)	2						TGTCTTTTGATGCAGCCCTGT	0.448													A|||	1240	0.247604	0.3865	0.1902	5008	,	,		20694	0.1984		0.1193	False		,,,				2504	0.2832				p.H11L		Atlas-SNP	.											C22orf24_ENST00000248984,NS,carcinoma,0,1	C22orf24	21	1	1	Substitution - Missense(1)	stomach(1)	c.A32T						PASS	.	A	LEU/HIS	1419,2585		260,899,843	230	237	235		32	1.6	0	22	dbSNP_92	235	860,7482		43,774,3354	yes	missense	C22orf24	NM_015372.1	99	303,1673,4197	AA,AT,TT		10.3093,35.4396,18.4594	benign	11/161	32334021	2279,10067	2002	4171	6173	SO:0001583	missense	25775	exon2			TTTTGATGCAGCC		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.32A>T	22.37:g.32334021T>A	ENSP00000248984:p.His11Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	104	101	0.971154	NM_015372	B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	CCDS46693.1	465	0.2129120879120879	206	0.4186991869918699	65	0.17955801104972377	99	0.17307692307692307	95	0.12532981530343007	A	6.644	0.487380	0.12641	0.354396	0.103093	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.40225	1.04;1.04	3.8	1.65	0.23941	.	1.655130	0.04181	N	0.326546	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	9	0.87932	D	0	.	2.7578	0.05298	0.5954:0.0:0.2151:0.1895	rs1984388;rs3827333;rs1984388	11	Q9Y442	CV024_HUMAN	L	11;78	ENSP00000248984:H11L;ENSP00000437643:H78L	ENSP00000248984:H11L	H	-	2	0	C22orf24	30664021	0.200000	0.23398	0.004000	0.12327	0.064000	0.16182	0.076000	0.14712	0.008000	0.14787	-0.257000	0.10917	CAT	T|0.774;A|0.226	0.226	strong		0.448	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372		A	32334021	T	A	32334021	3	1	22	1	0	0	0	0	1	0	0	0	2138	1464	51	5	458	5	C22orf24	22	32334021	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	139440	32334021	18970545	10912	16020										
C22orf42	150297	hgsc.bcm.edu	37	chr22	32554985	32554985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttacctttggacatcttcAgcatcttcggcgtcttcggg	9	12	4	0	rs5998267	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32554985A>G	ENST00000382097.3	-	1	290	c.218T>C	c.(217-219)cTg>cCg	p.L73P	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	73			L -> P (in dbSNP:rs5998267).							NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGACATCTTCAGCATCTTCGG	0.557													.|||	2917	0.582468	0.8495	0.4193	5008	,	,		17928	0.4167		0.4831	False		,,,				2504	0.6104				p.L73P		Atlas-SNP	.											.	C22orf42	37	.	0			c.T218C						PASS	.	G	PRO/LEU	3508,898	336.3+/-304.3	1393,722,88	159	158	158		218		0	22	dbSNP_114	158	3969,4631	583.1+/-391.5	947,2075,1278	yes	missense	C22orf42	NM_001010859.1	98	2340,2797,1366	GG,GA,AA		46.1512,20.3813,42.5111	benign	73/252	32554985	7477,5529	2203	4300	6503	SO:0001583	missense	150297	exon1			ATCTTCAGCATCT	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.218T>C	22.37:g.32554985A>G	ENSP00000371529:p.Leu73Pro	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	297	296	0.996633	NM_001010859	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	1168	0.5347985347985348	409	0.8313008130081301	157	0.43370165745856354	234	0.4090909090909091	368	0.48548812664907653	G	0.016	-1.533546	0.00951	0.796187	0.461512	ENSG00000205856	ENST00000382097	T	0.34472	1.36	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31052	-0.9957	6	0.41790	T	0.15	.	.	.	.	rs5998267;rs8141156;rs52829159;rs56619140;rs59525772;rs5998267	73	Q6IC83	CV042_HUMAN	P	73	ENSP00000371529:L73P	ENSP00000371529:L73P	L	-	2	0	C22orf42	30884985	0.003000	0.15002	0.021000	0.16686	0.021000	0.10359	-1.336000	0.02660	-2.036000	0.00922	-2.094000	0.00368	CTG	A|0.432;G|0.568	0.568	strong		0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		G	32554985	A	G	32554985	3	3	22	1	0	0	0	0	1	0	0	0	2149	188	7	3	573	3	C22orf42	22	32554985	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	220964	32554985	18749581	10913	16021										
RFPL3	10738	hgsc.bcm.edu	37	chr22	32754386	32754386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcaaggaactggagcccaagCtgaagaagattctacagatg	11	8	2	4	rs9621427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32754386C>A	ENST00000249007.4	+	1	533	c.328C>A	c.(328-330)Ctg>Atg	p.L110M	RFPL3_ENST00000397468.1_Missense_Mutation_p.L81M|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.L81M	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	110	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		L -> M (in dbSNP:rs9621427). {ECO:0000269|PubMed:15489334}.				zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCAAGCTGAAGAAGAT	0.502													c|||	523	0.104433	0.1846	0.1138	5008	,	,		18313	0.0456		0.0557	False		,,,				2504	0.1002				p.L110M		Atlas-SNP	.											.	RFPL3	91	.	0			c.C328A						PASS	.	C	MET/LEU,MET/LEU	803,3603	321.3+/-297.0	68,667,1468	109	109	109		328,241	0.7	0	22	dbSNP_119	109	499,8101	144.3+/-200.2	15,469,3816	no	missense,missense	RFPL3	NM_001098535.1,NM_006604.2	15,15	83,1136,5284	AA,AC,CC		5.8023,18.2251,10.0108	probably-damaging,probably-damaging	110/318,81/289	32754386	1302,11704	2203	4300	6503	SO:0001583	missense	10738	exon1			CCCAAGCTGAAGA	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.328C>A	22.37:g.32754386C>A	ENSP00000249007:p.Leu110Met	Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	249	117	0.46988	NM_001098535	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	192	0.08791208791208792	95	0.19308943089430894	36	0.09944751381215469	25	0.043706293706293704	36	0.047493403693931395	C	11.53	1.666884	0.29604	0.182251	0.058023	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.61392	0.11;0.11;0.11	0.664	0.664	0.17890	RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.00178	0.0005	L	0.54323	1.7	0.80722	P	0.0	D	0.56287	0.975	P	0.61328	0.887	T	0.18903	-1.0322	7	0.72032	D	0.01	.	.	.	.	rs9621427;rs17852987;rs52805018;rs9621427	110	O75679	RFPL3_HUMAN	M	81;110;81	ENSP00000380609:L81M;ENSP00000249007:L110M;ENSP00000371520:L81M	ENSP00000249007:L110M	L	+	1	2	RFPL3	31084386	0.027000	0.19231	0.021000	0.16686	0.462000	0.32619	-0.912000	0.04046	0.624000	0.30286	0.194000	0.17425	CTG	C|0.903;A|0.097	0.097	strong		0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		A	32754386	C	A	32754386	3	1	22	1	0	0	0	0	1	0	0	0	13255	796	28	4	330	4	RFPL3	22	32754386	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	199401	32754386	18550180	10914	16022										
RFPL3	10738	hgsc.bcm.edu	37	chr22	32756807	32756807	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgctccagtccgtcctggGgaggccaaataagccgccac	12	14	0	0	rs78565810	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32756807G>C	ENST00000249007.4	+	2	1147	c.942G>C	c.(940-942)ggG>ggC	p.G314G	RFPL3S_ENST00000382084.4_Silent_p.S48S|RFPL3S_ENST00000400234.1_Silent_p.S77S|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000382088.3_Silent_p.G285G|RFPL3_ENST00000397468.1_Silent_p.G285G	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	314							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCGTCCTGGGGAGGCCAAAT	0.443													g|||	99	0.0197684	0.0734	0.0029	5008	,	,		15426	0.0		0.0	False		,,,				2504	0.0				p.G314G		Atlas-SNP	.											.	RFPL3	91	.	0			c.G942C						PASS	.	G	,	237,4113		2,233,1940	44	48	47		942,855	-0.6	0	22	dbSNP_131	47	0,8528		0,0,4264	no	coding-synonymous,coding-synonymous	RFPL3	NM_001098535.1,NM_006604.2	,	2,233,6204	CC,CG,GG		0.0,5.4483,1.8403	,	314/318,285/289	32756807	237,12641	2175	4264	6439	SO:0001819	synonymous_variant	10738	exon2			TCCTGGGGAGGCC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.942G>C	22.37:g.32756807G>C		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	216	86	0.398148	NM_001098535	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	CCDS43011.1																																																																																			G|0.978;C|0.022	0.022	strong		0.443	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		C	32756807	G	C	32756807	2	2	22	1	0	0	0	0	0	0	0	1	13255	1219	43	4		4	RFPL3	22	32756807	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2421	32756807	18547759	10915	16023										
BPIL2	254240	hgsc.bcm.edu	37	chr22	32831830	32831830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaaaggaactggtgagaagGgggggtcggtgaggttttcc	18	5	0	2	rs73884913	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32831830G>A	ENST00000397452.1	-	9	895	c.785C>T	c.(784-786)cCc>cTc	p.P262L	BPIFC_ENST00000432451.2_Missense_Mutation_p.P76L|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.P262L			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	262						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTGAGAAGGGGGGGTCGGT	0.458													G|||	180	0.0359425	0.1301	0.0101	5008	,	,		17689	0.0		0.001	False		,,,				2504	0.0				p.P262L		Atlas-SNP	.											.	.	.	.	0			c.C785T						PASS	.	G	LEU/PRO	464,3942	221.0+/-238.3	20,424,1759	75	84	81		785	2.4	0	22	dbSNP_130	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	BPIFC	NM_174932.2	98	20,426,6057	AA,AG,GG		0.0233,10.5311,3.583	probably-damaging	262/508	32831830	466,12540	2203	4300	6503	SO:0001583	missense	254240	exon8			GAGAAGGGGGGGT	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.785C>T	22.37:g.32831830G>A	ENSP00000380594:p.Pro262Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_174932	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	67	0.030677655677655676	64	0.13008130081300814	3	0.008287292817679558	0	0.0	0	0.0	G	6.586	0.476412	0.12521	0.105311	2.33E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.08282	3.11;3.11;3.11	5.65	2.37	0.29283	.	0.056016	0.64402	N	0.000001	T	0.00144	0.0004	M	0.87180	2.865	0.21184	N	0.999763	B;B	0.22909	0.023;0.077	B;B	0.25884	0.046;0.064	T	0.16158	-1.0412	10	0.52906	T	0.07	-13.1446	7.7921	0.29127	0.0752:0.0:0.6379:0.2869	.	76;262	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	L	262;262;76	ENSP00000380594:P262L;ENSP00000300399:P262L;ENSP00000408920:P76L	ENSP00000300399:P262L	P	-	2	0	BPIFC	31161830	0.987000	0.35691	0.041000	0.18516	0.022000	0.10575	2.319000	0.43788	0.311000	0.23014	-0.803000	0.03203	CCC	G|0.967;A|0.033	0.033	strong		0.458	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		A	32831830	G	A	32831830	3	1	22	1	0	0	0	0	1	0	0	0	1492	1232	43	2	770	2	BPIL2	22	32831830	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	75023	32831830	18472736	10916	16024										
BPIL2	254240	hgsc.bcm.edu	37	chr22	32843312	32843312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggtatttggaaatgaaaaGgcactgatttttatactgta	10	3	0	2	rs28733723	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:32843312G>A	ENST00000397452.1	-	4	371	c.261C>T	c.(259-261)gcC>gcT	p.A87A	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Silent_p.A87A			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	87						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GAAATGAAAAGGCACTGATTT	0.463													G|||	147	0.029353	0.1074	0.0072	5008	,	,		18029	0.0		0.0	False		,,,				2504	0.0				p.A87A		Atlas-SNP	.											.	.	.	.	0			c.C261T						PASS	.	G		387,4019	189.2+/-215.4	14,359,1830	98	90	93		261	1.2	1	22	dbSNP_125	93	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	BPIFC	NM_174932.2		14,362,6127	AA,AG,GG		0.0349,8.7835,2.9986		87/508	32843312	390,12616	2203	4300	6503	SO:0001819	synonymous_variant	254240	exon3			TGAAAAGGCACTG	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.261C>T	22.37:g.32843312G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	78	43	0.551282	NM_174932	A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																			G|0.968;A|0.032	0.032	strong		0.463	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		A	32843312	G	A	32843312	2	1	22	1	0	0	0	0	0	0	0	1	1492	987	35	2		2	BPIL2	22	32843312	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11482	32843312	18461254	10917	16025										
TIMP3	7078	hgsc.bcm.edu	37	chr22	33253280	33253280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccatgtgcagtacatccaTacggaagcttccgagagtct	9	13	1	1	rs9862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:33253280T>C	ENST00000266085.6	+	3	550	c.249T>C	c.(247-249)caT>caC	p.H83H	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	83	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTACATCCATACGGAAGCTT	0.507													C|||	3260	0.650958	0.8835	0.696	5008	,	,		20747	0.6121		0.4821	False		,,,				2504	0.5184				p.H83H		Atlas-SNP	.											.	TIMP3	31	.	0			c.T249C						PASS	.	C	,,,	3637,769	312.7+/-292.7	1499,639,65	159	130	140		249,,,	5.6	1	22	dbSNP_52	140	4332,4268	575.9+/-390.3	1095,2142,1063	no	coding-synonymous,intron,intron,intron	TIMP3,SYN3	NM_000362.4,NM_001135774.1,NM_003490.3,NM_133633.2	,,,	2594,2781,1128	CC,CT,TT		49.6279,17.4535,38.7283	,,,	83/212,,,	33253280	7969,5037	2203	4300	6503	SO:0001819	synonymous_variant	7078	exon3			CATCCATACGGAA		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.249T>C	22.37:g.33253280T>C		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	235	235	1	NM_000362	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	37	CCDS13911.1																																																																																			T|0.372;C|0.628	0.628	strong		0.507	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		C	33253280	T	C	33253280	2	2	22	1	0	0	0	0	0	0	0	1	15916	1403	49	2		2	TIMP3	22	33253280	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	409968	33253280	18051286	10918	16026										
LARGE	9215	hgsc.bcm.edu	37	chr22	33679238	33679238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attgacagcaactccgctttTgacttggggaaggacagccg	12	10	0	2	rs11913417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:33679238T>C	ENST00000354992.2	-	14	2398	c.1827A>G	c.(1825-1827)tcA>tcG	p.S609S	LARGE_ENST00000397394.2_Silent_p.S609S|LARGE_ENST00000402320.1_Silent_p.S557S|LARGE_ENST00000437602.2_Intron|LARGE_ENST00000452586.2_Silent_p.S408S|LARGE_ENST00000337431.2_Silent_p.S557S	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	609					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACTCCGCTTTTGACTTGGGGA	0.547													C|||	182	0.0363419	0.0756	0.0086	5008	,	,		19914	0.005		0.004	False		,,,				2504	0.0685				p.S609S	Colon(70;397 1175 4573 19089 45288)	Atlas-SNP	.											.	LARGE	98	.	0			c.A1827G						PASS	.	C	,	280,4126	800.8+/-415.6	9,262,1932	138	119	126		1827,1827	-10.8	0	22	dbSNP_120	126	44,8556	817.3+/-406.9	0,44,4256	no	coding-synonymous,coding-synonymous	LARGE	NM_004737.4,NM_133642.3	,	9,306,6188	CC,CT,TT		0.5116,6.355,2.4912	,	609/757,609/757	33679238	324,12682	2203	4300	6503	SO:0001819	synonymous_variant	9215	exon14			CGCTTTTGACTTG	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1827A>G	22.37:g.33679238T>C		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	152	88	0.578947	NM_004737	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																			T|0.970;C|0.030	0.030	strong		0.547	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		C	33679238	T	C	33679238	2	2	22	1	0	0	0	0	0	0	0	1	8627	1799	63	2		2	LARGE	22	33679238	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	425958	33679238	17625328	10919	16027										
ISX	91464	hgsc.bcm.edu	37	chr22	35480467	35480467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgagtgaagccagtgtggCcctgcccacaaatctggatg	13	11	1	2	rs7291048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35480467C>T	ENST00000308700.6	+	3	1425	c.473C>T	c.(472-474)gCc>gTc	p.A158V	ISX_ENST00000404699.2_Missense_Mutation_p.A158V	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	158			A -> V (in dbSNP:rs7291048).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCAGTGTGGCCCTGCCCACA	0.552													C|||	462	0.0922524	0.2579	0.0159	5008	,	,		17641	0.0546		0.002	False		,,,				2504	0.0542				p.A158V		Atlas-SNP	.											.	ISX	62	.	0			c.C473T						PASS	.	C	VAL/ALA	966,3440	363.1+/-316.4	99,768,1336	52	46	48		473	1.3	0	22	dbSNP_116	48	15,8585	9.1+/-34.3	0,15,4285	yes	missense	ISX	NM_001008494.1	64	99,783,5621	TT,TC,CC		0.1744,21.9246,7.5427	probably-damaging	158/246	35480467	981,12025	2203	4300	6503	SO:0001583	missense	91464	exon3			GTGTGGCCCTGCC	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.473C>T	22.37:g.35480467C>T	ENSP00000311492:p.Ala158Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	102	50	0.490196	NM_001008494	Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	CCDS33640.1	170	0.07783882783882784	133	0.2703252032520325	6	0.016574585635359115	30	0.05244755244755245	1	0.0013192612137203166	C	15.23	2.771772	0.49680	0.219246	0.001744	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90676	-2.71;-2.71	5.07	1.27	0.21489	.	0.944627	0.08782	N	0.894475	T	0.00039	0.0001	M	0.64997	1.995	0.80722	P	0.0	B	0.25312	0.123	B	0.19391	0.025	T	0.05500	-1.0881	9	0.25751	T	0.34	.	5.3469	0.16014	0.0:0.6004:0.1686:0.2309	rs7291048;rs52832930;rs57036230;rs7291048	158	Q2M1V0	ISX_HUMAN	V	158	ENSP00000311492:A158V;ENSP00000386037:A158V	ENSP00000311492:A158V	A	+	2	0	ISX	33810467	0.000000	0.05858	0.005000	0.12908	0.308000	0.27856	0.429000	0.21412	0.618000	0.30179	0.655000	0.94253	GCC	C|0.915;T|0.085	0.085	strong		0.552	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		T	35480467	C	T	35480467	3	4	22	1	0	0	0	0	1	0	0	0	7865	739	26	2	483	2	ISX	22	35480467	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1801229	35480467	15824099	10920	16028										
TOM1	10043	hgsc.bcm.edu	37	chr22	35713931	35713931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcaacatggagatctgcgaCatcatcaacgagacggagga	11	10	4	2	rs57755951	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35713931C>T	ENST00000449058.2	+	2	239	c.114C>T	c.(112-114)gaC>gaT	p.D38D	TOM1_ENST00000425375.1_Silent_p.D38D|TOM1_ENST00000447733.1_Silent_p.D5D|TOM1_ENST00000382034.5_5'UTR|TOM1_ENST00000411850.1_Silent_p.D38D|TOM1_ENST00000436462.2_Missense_Mutation_p.T17I	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	38	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AGATCTGCGACATCATCAACG	0.597													C|||	80	0.0159744	0.0582	0.0043	5008	,	,		20039	0.0		0.0	False		,,,				2504	0.0				p.D38D		Atlas-SNP	.											.	TOM1	43	.	0			c.C114T						PASS	.	C	,,,	211,4195	130.2+/-166.9	8,195,2000	107	106	106		15,114,114,114	5.4	1	22	dbSNP_129	106	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOM1	NM_001135729.1,NM_001135730.1,NM_001135732.1,NM_005488.2	,,,	8,197,6298	TT,TC,CC		0.0233,4.7889,1.6377	,,,	5/461,38/448,38/494,38/493	35713931	213,12793	2203	4300	6503	SO:0001819	synonymous_variant	10043	exon2			CTGCGACATCATC	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.114C>T	22.37:g.35713931C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	197	94	0.477157	NM_001135732	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	C	13.28	2.189681	0.38707	0.047889	2.33E-4	ENSG00000100284	ENST00000436462	T	0.21361	2.01	5.36	5.36	0.76844	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.80722	D	1	D	0.53312	0.959	B	0.43623	0.425	T	0.08351	-1.0726	8	0.02654	T	1	-30.6633	12.4314	0.55575	0.0:0.9231:0.0:0.0769	rs57755951	17	E7EPD0	.	I	17	ENSP00000402556:T17I	ENSP00000402556:T17I	T	+	2	0	TOM1	34043931	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.017000	0.57167	2.502000	0.84385	0.561000	0.74099	ACA	C|0.982;T|0.018	0.018	strong		0.597	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		T	35713931	C	T	35713931	2	4	22	1	0	0	0	0	0	0	0	1	16348	477	17	2		2	TOM1	22	35713931	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	233464	35713931	15590635	10921	16029										
HMOX1	3162	hgsc.bcm.edu	37	chr22	35777185	35777185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatggagcgtccgcaacccGacaggcaagcgcggggcgcg	18	13	0	0	rs2071747	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35777185G>C	ENST00000216117.8	+	1	358	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	7			D -> H (in dbSNP:rs2071747). {ECO:0000269|Ref.3}.		angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	TCCGCAACCCGACAGGCAAGC	0.721													G|||	182	0.0363419	0.0287	0.0216	5008	,	,		11362	0.0536		0.0586	False		,,,				2504	0.0164				p.D7H		Atlas-SNP	.											.	HMOX1	32	.	0			c.G19C						PASS	.	G	HIS/ASP	60,3634		1,58,1788	4	5	5		19	2.4	1	22	dbSNP_96	5	276,7250		2,272,3489	no	missense	HMOX1	NM_002133.2	81	3,330,5277	CC,CG,GG		3.6673,1.6243,2.9947	benign	7/289	35777185	336,10884	1847	3763	5610	SO:0001583	missense	3162	exon1			CAACCCGACAGGC		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.19G>C	22.37:g.35777185G>C	ENSP00000216117:p.Asp7His	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	19	8	0.421053	NM_002133		Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	110	0.05036630036630037	22	0.044715447154471545	8	0.022099447513812154	36	0.06293706293706294	44	0.05804749340369393	G	10.07	1.249851	0.22880	0.016243	0.036673	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.18502	2.21;2.26	3.44	2.43	0.29744	Haem oxygenase-like, multi-helical (1);	1.539270	0.03633	N	0.238258	T	0.01029	0.0034	N	0.08118	0	0.29095	N	0.88183	B	0.06786	0.001	B	0.04013	0.001	T	0.18366	-1.0339	10	0.62326	D	0.03	-14.9887	6.7633	0.23552	0.1276:0.0:0.8724:0.0	rs2071747;rs11555831;rs17879005;rs2071747	7	P09601	HMOX1_HUMAN	H	7	ENSP00000413316:D7H;ENSP00000216117:D7H	ENSP00000216117:D7H	D	+	1	0	HMOX1	34107185	0.604000	0.26932	0.996000	0.52242	0.335000	0.28730	0.359000	0.20233	1.033000	0.39918	0.650000	0.86243	GAC	G|0.952;C|0.048	0.048	strong		0.721	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			C	35777185	G	C	35777185	3	2	22	1	0	0	0	0	1	0	0	0	7243	1058	37	4	21	4	HMOX1	22	35777185	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	63254	35777185	15527381	10922	16030										
MCM5	4174	hgsc.bcm.edu	37	chr22	35802661	35802661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctgccgcaacaccctcaCcaacattgccatgcgccctg	7	19	1	0	rs2307340	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35802661C>G	ENST00000216122.4	+	5	693	c.539C>G	c.(538-540)aCc>aGc	p.T180S	MCM5_ENST00000382011.5_Missense_Mutation_p.T137S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	180			T -> S (in dbSNP:rs2307340). {ECO:0000269|Ref.5}.		DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AACACCCTCACCAACATTGCC	0.637													C|||	208	0.0415335	0.0234	0.0288	5008	,	,		21179	0.006		0.0855	False		,,,				2504	0.0665				p.T180S		Atlas-SNP	.											.	MCM5	54	.	0			c.C539G						PASS	.	C	SER/THR	121,4285	91.1+/-129.8	3,115,2085	75	55	61		539	0.2	1	22	dbSNP_100	61	735,7865	177.3+/-227.0	27,681,3592	yes	missense	MCM5	NM_006739.3	58	30,796,5677	GG,GC,CC		8.5465,2.7463,6.5816	benign	180/735	35802661	856,12150	2203	4300	6503	SO:0001583	missense	4174	exon5			CCCTCACCAACAT		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.539C>G	22.37:g.35802661C>G	ENSP00000216122:p.Thr180Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	59	33	0.559322	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	90	0.04120879120879121	14	0.028455284552845527	9	0.024861878453038673	3	0.005244755244755245	64	0.08443271767810026	C	5.317	0.243830	0.10077	0.027463	0.085465	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000416905;ENST00000444778	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	3.94	0.199	0.15175	Nucleic acid-binding, OB-fold-like (1);	0.558871	0.18678	N	0.134238	T	0.00109	0.0003	N	0.11255	0.115	0.24550	N	0.994025	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49163	-0.8968	10	0.10636	T	0.68	-30.8481	8.3315	0.32189	0.302:0.3613:0.3367:0.0	rs2307340;rs17720368;rs52837575;rs2307340	137;180	B1AHB1;P33992	.;MCM5_HUMAN	S	180;137;89;212;37	ENSP00000216122:T180S;ENSP00000371441:T137S;ENSP00000393977:T212S;ENSP00000408705:T37S	ENSP00000216122:T180S	T	+	2	0	MCM5	34132661	0.701000	0.27806	1.000000	0.80357	0.998000	0.95712	-0.180000	0.09754	0.397000	0.25310	0.561000	0.74099	ACC	C|0.945;G|0.055	0.055	strong		0.637	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			G	35802661	C	G	35802661	3	3	22	1	0	0	0	0	1	0	0	0	9390	507	18	4	553	4	MCM5	22	35802661	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	25476	35802661	15501905	10923	16031										
MCM5	4174	hgsc.bcm.edu	37	chr22	35806815	35806815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcaagaagtttggcctgacTaccagcaggggccgtgacag	13	10	1	3	rs133417	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35806815T>C	ENST00000216122.4	+	7	985	c.831T>C	c.(829-831)acT>acC	p.T277T	MCM5_ENST00000382011.5_Silent_p.T234T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	277					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGGCCTGACTACCAGCAGGG	0.577													C|||	602	0.120208	0.2587	0.0576	5008	,	,		20903	0.0466		0.0417	False		,,,				2504	0.1339				p.T277T		Atlas-SNP	.											.	MCM5	54	.	0			c.T831C						PASS	.	C		888,3518	742.3+/-411.4	85,718,1400	144	121	129		831	3.2	0.5	22	dbSNP_78	129	382,8218	802.6+/-407.3	9,364,3927	no	coding-synonymous	MCM5	NM_006739.3		94,1082,5327	CC,CT,TT		4.4419,20.1543,9.7647		277/735	35806815	1270,11736	2203	4300	6503	SO:0001819	synonymous_variant	4174	exon7			CCTGACTACCAGC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.831T>C	22.37:g.35806815T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	190	92	0.484211	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	CCDS13915.1																																																																																			T|0.893;C|0.107	0.107	strong		0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			C	35806815	T	C	35806815	2	2	22	1	0	0	0	0	0	0	0	1	9390	1509	53	3		3	MCM5	22	35806815	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	4154	35806815	15497751	10924	16032										
MCM5	4174	hgsc.bcm.edu	37	chr22	35815880	35815880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccccactgtcctgcaggaaGtgtggcccccggctgtcagc	12	16	1	0	rs133427	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:35815880G>A	ENST00000216122.4	+	14	1861	c.1707G>A	c.(1705-1707)aaG>aaA	p.K569K	MCM5_ENST00000382011.5_Silent_p.K526K	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	569					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGCAGGAAGTGTGGCCCCC	0.632													G|||	661	0.131989	0.2428	0.0692	5008	,	,		18288	0.0476		0.0825	False		,,,				2504	0.1646				p.K569K		Atlas-SNP	.											.	MCM5	54	.	0			c.G1707A						PASS	.	G		852,3554	311.1+/-291.9	82,688,1433	44	47	46		1707	1	0.9	22	dbSNP_78	46	654,7946	157.3+/-211.0	25,604,3671	no	coding-synonymous	MCM5	NM_006739.3		107,1292,5104	AA,AG,GG		7.6047,19.3373,11.5793		569/735	35815880	1506,11500	2203	4300	6503	SO:0001819	synonymous_variant	4174	exon14			CAGGAAGTGTGGC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1707G>A	22.37:g.35815880G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	164	79	0.481707	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	CCDS13915.1																																																																																			G|0.878;A|0.122	0.122	strong		0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			A	35815880	G	A	35815880	2	1	22	1	0	0	0	0	0	0	0	1	9390	1020	36	2		2	MCM5	22	35815880	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	9065	35815880	15488686	10925	16033										
MB	4151	hgsc.bcm.edu	37	chr22	36007045	36007045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacccagggcggtgagcacGgtggcaccatgcttctttaa	12	13	1	1	rs7292	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36007045G>A	ENST00000397326.2	-	2	402	c.204C>T	c.(202-204)acC>acT	p.T68T	MB_ENST00000397328.1_Silent_p.T68T|MB_ENST00000406324.1_Silent_p.T68T|MB_ENST00000401702.1_Silent_p.T13T|MB_ENST00000359787.1_Silent_p.T68T	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	68					brown fat cell differentiation (GO:0050873)|enucleate erythrocyte differentiation (GO:0043353)|heart development (GO:0007507)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1						CGGTGAGCACGGTGGCACCAT	0.552													G|||	2826	0.564297	0.5703	0.4798	5008	,	,		21661	0.747		0.4493	False		,,,				2504	0.546				p.T68T	GBM(49;694 1113 16998 18419)|Esophageal Squamous(101;120 1973 10459 37086)	Atlas-SNP	.											.	MB	7	.	0			c.C204T						PASS	.	G	,,	2425,1981	618.2+/-393.1	678,1069,456	130	100	110		204,204,204	-10.6	0	22	dbSNP_52	110	4022,4578	556.1+/-386.8	958,2106,1236	no	coding-synonymous,coding-synonymous,coding-synonymous	MB	NM_005368.2,NM_203377.1,NM_203378.1	,,	1636,3175,1692	AA,AG,GG		46.7674,44.9614,49.5694	,,	68/155,68/155,68/155	36007045	6447,6559	2203	4300	6503	SO:0001819	synonymous_variant	4151	exon3			GAGCACGGTGGCA		CCDS13917.1	22q13.1	2012-10-02			ENSG00000198125	ENSG00000198125			6915	protein-coding gene	gene with protein product		160000				10591208, 2989088	Standard	NM_005368		Approved	PVALB	uc003anz.3	P02144	OTTHUMG00000150606	ENST00000397326.2:c.204C>T	22.37:g.36007045G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	161	160	0.993789	NM_203377	Q52H51|Q5THY7	Silent	SNP	ENST00000397326.2	37	CCDS13917.1																																																																																			G|0.474;A|0.526	0.526	strong		0.552	MB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319057.2	NM_203377		A	36007045	G	A	36007045	2	1	22	1	0	0	0	0	0	0	0	1	9341	1103	39	1		1	MB	22	36007045	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	191165	36007045	15297521	10926	16034										
MB	4151	hgsc.bcm.edu	37	chr22	36007075	36007075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttctttaagtcctcagaCgccttcatctcgtcctctga	6	14	5	2	rs7293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36007075C>T	ENST00000397326.2	-	2	372	c.174G>A	c.(172-174)gcG>gcA	p.A58A	MB_ENST00000397328.1_Silent_p.A58A|MB_ENST00000406324.1_Silent_p.A58A|MB_ENST00000401702.1_Silent_p.A3A|MB_ENST00000359787.1_Silent_p.A58A	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	58					brown fat cell differentiation (GO:0050873)|enucleate erythrocyte differentiation (GO:0043353)|heart development (GO:0007507)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1						AGTCCTCAGACGCCTTCATCT	0.552													C|||	2659	0.53095	0.4501	0.4712	5008	,	,		21677	0.747		0.4483	False		,,,				2504	0.545				p.A58A	GBM(49;694 1113 16998 18419)|Esophageal Squamous(101;120 1973 10459 37086)	Atlas-SNP	.											MB_ENST00000447607,caecum,carcinoma,0,2	MB	7	2	0			c.G174A						PASS	.	C	,,	1974,2432	556.7+/-379.6	421,1132,650	139	110	120		174,174,174	-11	0	22	dbSNP_52	120	4016,4584	555.6+/-386.7	954,2108,1238	no	coding-synonymous,coding-synonymous,coding-synonymous	MB	NM_005368.2,NM_203377.1,NM_203378.1	,,	1375,3240,1888	TT,TC,CC		46.6977,44.8025,46.0557	,,	58/155,58/155,58/155	36007075	5990,7016	2203	4300	6503	SO:0001819	synonymous_variant	4151	exon3			CTCAGACGCCTTC		CCDS13917.1	22q13.1	2012-10-02			ENSG00000198125	ENSG00000198125			6915	protein-coding gene	gene with protein product		160000				10591208, 2989088	Standard	NM_005368		Approved	PVALB	uc003anz.3	P02144	OTTHUMG00000150606	ENST00000397326.2:c.174G>A	22.37:g.36007075C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	178	177	0.994382	NM_203377	Q52H51|Q5THY7	Silent	SNP	ENST00000397326.2	37	CCDS13917.1																																																																																			C|0.504;T|0.496	0.496	strong		0.552	MB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319057.2	NM_203377		T	36007075	C	T	36007075	2	4	22	1	0	0	0	0	0	0	0	1	9341	523	19	1		1	MB	22	36007075	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30	36007075	15297491	10927	16035										
APOL5	80831	hgsc.bcm.edu	37	chr22	36122930	36122930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagacacatccctttctggaCggctagaggggtgcagagag	15	9	1	3	rs2076671	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36122930C>T	ENST00000249044.2	+	3	815	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	272			T -> M (in dbSNP:rs2076671).		lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CCTTTCTGGACGGCTAGAGGG	0.527													G|||	1935	0.386382	0.32	0.2349	5008	,	,		18520	0.5962		0.2903	False		,,,				2504	0.4663				p.T272M		Atlas-SNP	.											.	APOL5	45	.	0			c.C815T						PASS	.	G	MET/THR	1410,2996		245,920,1038	139	146	144		815	-0.3	0	22	dbSNP_96	144	2663,5937		437,1789,2074	yes	missense	APOL5	NM_030642.1	81	682,2709,3112	TT,TC,CC		30.9651,32.0018,31.3163	probably-damaging	272/434	36122930	4073,8933	2203	4300	6503	SO:0001583	missense	80831	exon3			TCTGGACGGCTAG	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.815C>T	22.37:g.36122930C>T	ENSP00000249044:p.Thr272Met	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	135	135	1	NM_030642	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	796	0.36446886446886445	156	0.3170731707317073	89	0.24585635359116023	335	0.5856643356643356	216	0.2849604221635884	G	18.41	3.617524	0.66787	0.320018	0.309651	ENSG00000128313	ENST00000249044	T	0.03607	3.87	3.8	-0.258	0.12975	.	2.147360	0.02570	U	0.097668	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	P	0.45283	0.855	B	0.35770	0.21	T	0.40515	-0.9559	9	0.62326	D	0.03	.	2.6112	0.04891	0.1212:0.2999:0.4272:0.1518	rs2076671;rs52791490;rs57567438;rs2076671	272	Q9BWW9	APOL5_HUMAN	M	272	ENSP00000249044:T272M	ENSP00000249044:T272M	T	+	2	0	APOL5	34452876	0.008000	0.16893	0.000000	0.03702	0.009000	0.06853	0.057000	0.14279	-0.784000	0.04528	-1.137000	0.01932	ACG	C|0.663;T|0.337	0.337	strong		0.527	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		T	36122930	C	T	36122930	3	4	22	1	0	0	0	0	1	0	0	0	809	536	19	1	825	1	APOL5	22	36122930	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	115855	36122930	15181636	10928	16036										
APOL5	80831	hgsc.bcm.edu	37	chr22	36124860	36124860	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaccaaagaggacagtctCtgccccaaggatgcttggcc	11	13	1	1	rs2076673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36124860C>G	ENST00000249044.2	+	4	1217	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	406			S -> C (in dbSNP:rs2076673).		lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGACAGTCTCTGCCCCAAGG	0.627													C|||	1813	0.362021	0.2292	0.2291	5008	,	,		14719	0.5942		0.2942	False		,,,				2504	0.4663				p.S406C		Atlas-SNP	.											.	APOL5	45	.	0			c.C1217G						PASS	.	C	CYS/SER	951,3455	361.9+/-315.9	108,735,1360	84	75	78		1217	0.9	0	22	dbSNP_96	78	2703,5897	434.0+/-357.6	445,1813,2042	yes	missense	APOL5	NM_030642.1	112	553,2548,3402	GG,GC,CC		31.4302,21.5842,28.0947	probably-damaging	406/434	36124860	3654,9352	2203	4300	6503	SO:0001583	missense	80831	exon4			CAGTCTCTGCCCC	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1217C>G	22.37:g.36124860C>G	ENSP00000249044:p.Ser406Cys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	105	56	0.533333	NM_030642	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	760	0.34798534798534797	119	0.241869918699187	88	0.2430939226519337	336	0.5874125874125874	217	0.2862796833773087	C	11.68	1.710932	0.30322	0.215842	0.314302	ENSG00000128313	ENST00000249044	T	0.05199	3.48	1.95	0.921	0.19403	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.71674	0.998	D	0.67725	0.953	T	0.40720	-0.9548	8	0.87932	D	0	.	4.2875	0.10862	0.0:0.7956:0.0:0.2044	rs2076673;rs2076673	406	Q9BWW9	APOL5_HUMAN	C	406	ENSP00000249044:S406C	ENSP00000249044:S406C	S	+	2	0	APOL5	34454806	0.011000	0.17503	0.008000	0.14137	0.089000	0.18198	-0.128000	0.10531	0.387000	0.25024	0.195000	0.17529	TCT	C|0.692;G|0.308	0.308	strong		0.627	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		G	36124860	C	G	36124860	3	3	22	1	0	0	0	0	1	0	0	0	809	913	32	4	1231	4	APOL5	22	36124860	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1930	36124860	15179706	10929	16037										
APOL1	8542	hgsc.bcm.edu	37	chr22	36662042	36662047	+	In_Frame_Del	DEL	ATAATT	ATAATT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagctaaacattctcaacaAtaattataagattctgcagg					rs143830837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	ATAATT	ATAATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36662042_36662047delATAATT	ENST00000397278.3	+	6	1389_1394	c.1160_1165delATAATT	c.(1159-1167)aataattat>aat	p.NY388del	APOL1_ENST00000347595.7_In_Frame_Del_p.NY267del|APOL1_ENST00000319136.4_In_Frame_Del_p.NY404del|APOL1_ENST00000422706.1_In_Frame_Del_p.NY388del|APOL1_ENST00000426053.1_In_Frame_Del_p.NY370del|APOL1_ENST00000397279.4_In_Frame_Del_p.NY388del	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	388					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATTCTCAACAATAATTATAAGATTCT	0.495														176	0.0351438	0.1286	0.0086	5008	,	,		20512	0.0		0.0	False		,,,				2504	0.0				p.403_404del		Pindel,Atlas-Indel	.											.	APOL1	35	.	0			c.1207_1212del						PASS	.		,,,	570,3688		45,480,1604				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,,	-5.9	0		dbSNP_130	43	1,8249		0,1,4124	no	coding,coding,coding,coding	APOL1	NM_145343.2,NM_003661.3,NM_001136541.1,NM_001136540.1	,,,	45,481,5728	A1A1,A1R,RR		0.0121,13.3866,4.5651	,,,	,,,		571,11937				SO:0001651	inframe_deletion	8542	exon7			.	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.1160_1165delATAATT	22.37:g.36662042_36662047delATAATT	ENSP00000380448:p.Asn388_Tyr389del	Somatic	198	.	.		WXS	Illumina HiSeq	Phase_I	192	53	0.276	NM_145343	A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	In_Frame_Del	DEL	ENST00000397278.3	37	CCDS13926.1																																																																																			ATAATT|0.979;-|0.021	0.021	strong		0.495	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		-	36662047	ATAATT	-	36662042	7	5	22	1	0	1	0	1	0	0	0	0	805	101	4	0	1230	0	APOL1	22	36662042	In_Frame_Del	DEL	ATAATT	TCGA-G8-6324-01A-11D-2210-10	537182	36662042	14642524	10930	16038										
MYH9	4627	hgsc.bcm.edu	37	chr22	36678816	36678816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcggcggggcacgacaaaCggcaggtccccgcgcctggg	16	14	0	0	rs80050551	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36678816C>A	ENST00000216181.5	-	41	6011	c.5781G>T	c.(5779-5781)ccG>ccT	p.P1927P	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1927					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P1927P(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACGACAAACGGCAGGTCCC	0.672			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				.|||	138	0.0275559	0.0991	0.0101	5008	,	,		14735	0.0		0.0	False		,,,				2504	0.0				p.P1927P		Atlas-SNP	.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	MYH9,NS,NS,0,1	MYH9	225	1	1	Substitution - coding silent(1)	pancreas(1)	c.G5781T						PASS	.			364,4042	178.0+/-206.8	14,336,1853	34	30	32		5781	-7.5	0.7	22	dbSNP_131	32	5,8593	3.0+/-9.4	0,5,4294	no	coding-synonymous	MYH9	NM_002473.4		14,341,6147	AA,AC,CC		0.0582,8.2615,2.8376		1927/1961	36678816	369,12635	2203	4299	6502	SO:0001819	synonymous_variant	4627	exon41	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	GACAAACGGCAGG		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5781G>T	22.37:g.36678816C>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	42	26	0.619048	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																			C|0.969;A|0.031	0.031	strong		0.672	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36678816	C	A	36678816	2	1	22	1	0	0	0	0	0	0	0	1	10042	523	19	4		4	MYH9	22	36678816	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16774	36678816	14625750	10931	16039										
FOXRED2	80020	hgsc.bcm.edu	37	chr22	36886178	36886178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcgcctgcctgtgggggcAtagtcccgcaggagcctgct	16	13	0	0	rs73409777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36886178A>G	ENST00000397224.4	-	9	2025	c.1932T>C	c.(1930-1932)taT>taC	p.Y644Y	FOXRED2_ENST00000216187.6_Silent_p.Y644Y|FOXRED2_ENST00000366463.3_Silent_p.Y196Y|FOXRED2_ENST00000397223.4_Silent_p.Y644Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	644					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGTGGGGGCATAGTCCCGCA	0.652													A|||	142	0.0283546	0.1044	0.0043	5008	,	,		16850	0.0		0.001	False		,,,				2504	0.0				p.Y644Y		Atlas-SNP	.											.	FOXRED2	48	.	0			c.T1932C						PASS	.	A	,	385,4021	187.8+/-214.3	21,343,1839	47	51	50		1932,1932	-3.8	0	22	dbSNP_130	50	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	FOXRED2	NM_001102371.1,NM_024955.5	,	21,346,6136	GG,GA,AA		0.0349,8.7381,2.9832	,	644/685,644/685	36886178	388,12618	2203	4300	6503	SO:0001819	synonymous_variant	80020	exon9			GGGGGCATAGTCC	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1932T>C	22.37:g.36886178A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	81	39	0.481481	NM_001102371	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	CCDS13929.1																																																																																			A|0.975;G|0.025	0.025	strong		0.652	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		G	36886178	A	G	36886178	2	3	22	1	0	0	0	0	0	0	0	1	6034	224	8	2		2	FOXRED2	22	36886178	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	207362	36886178	14418388	10932	16040										
FOXRED2	80020	hgsc.bcm.edu	37	chr22	36902259	36902259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgcggtgccgcgggtagcGtgtgaagaagctgccgggcc	18	11	0	2	rs56767103	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:36902259G>A	ENST00000397224.4	-	2	304	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R71C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R71C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	71			R -> C (in dbSNP:rs56767103).		ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGCGGGTAGCGTGTGAAGAAG	0.667													G|||	144	0.028754	0.1059	0.0043	5008	,	,		16027	0.0		0.001	False		,,,				2504	0.0				p.R71C		Atlas-SNP	.											.	FOXRED2	48	.	0			c.C211T						PASS	.	G	CYS/ARG,CYS/ARG	385,4021	193.3+/-218.5	22,341,1840	70	52	59		211,211	5	1	22	dbSNP_129	59	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FOXRED2	NM_001102371.1,NM_024955.5	180,180	22,344,6137	AA,AG,GG		0.0349,8.7381,2.9832	possibly-damaging,possibly-damaging	71/685,71/685	36902259	388,12618	2203	4300	6503	SO:0001583	missense	80020	exon2			GGTAGCGTGTGAA	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.211C>T	22.37:g.36902259G>A	ENSP00000380401:p.Arg71Cys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_001102371	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	46	0.021062271062271064	44	0.08943089430894309	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	22.6	4.317138	0.81469	0.087381	3.49E-4	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223;ENST00000423980	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.04	5.04	0.67666	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.201070	0.44097	D	0.000489	T	0.02083	0.0065	M	0.79123	2.44	0.40354	D	0.979162	D	0.65815	0.995	P	0.59703	0.862	T	0.00936	-1.1508	10	0.48119	T	0.1	-31.9668	7.8809	0.29621	0.0837:0.0:0.7553:0.161	rs56767103	71	Q8IWF2	FXRD2_HUMAN	C	71	ENSP00000380401:R71C;ENSP00000216187:R71C;ENSP00000380400:R71C;ENSP00000409692:R71C	ENSP00000216187:R71C	R	-	1	0	FOXRED2	35232205	1.000000	0.71417	0.977000	0.42913	0.953000	0.61014	4.550000	0.60733	2.337000	0.79520	0.561000	0.74099	CGC	G|0.974;A|0.026	0.026	strong		0.667	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		A	36902259	G	A	36902259	3	1	22	1	0	0	0	0	1	0	0	0	6034	1145	40	1	1875	1	FOXRED2	22	36902259	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16081	36902259	14402307	10933	16041										
NCF4	4689	hgsc.bcm.edu	37	chr22	37271802	37271802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggctgcgttgctactactaCgaagacaccatcagcaccat	8	13	1	1	rs2072712	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37271802C>T	ENST00000248899.6	+	8	919	c.735C>T	c.(733-735)taC>taT	p.Y245Y	NCF4_ENST00000397147.4_Silent_p.Y245Y	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	245	OPR.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GCTACTACTACGAAGACACCA	0.597													C|||	659	0.131589	0.2549	0.1383	5008	,	,		15260	0.0645		0.0656	False		,,,				2504	0.0971				p.Y245Y		Atlas-SNP	.											.	NCF4	66	.	0			c.C735T						PASS	.	C	,	930,3476	354.1+/-312.5	88,754,1361	141	123	129		735,735	-9.1	0.3	22	dbSNP_96	129	592,8008	157.7+/-211.4	21,550,3729	no	coding-synonymous,coding-synonymous	NCF4	NM_000631.4,NM_013416.3	,	109,1304,5090	TT,TC,CC		6.8837,21.1076,11.7023	,	245/340,245/349	37271802	1522,11484	2203	4300	6503	SO:0001819	synonymous_variant	4689	exon8			CTACTACGAAGAC	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.735C>T	22.37:g.37271802C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	86	55	0.639535	NM_000631	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	CCDS13934.1	245	0.11217948717948718	112	0.22764227642276422	52	0.143646408839779	33	0.057692307692307696	48	0.0633245382585752	C	6.651	0.488624	0.12641	0.211076	0.068837	ENSG00000100365	ENST00000415063	.	.	.	4.57	-9.15	0.00698	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999750706	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.3163	13.8809	0.63682	0.0:0.1141:0.0991:0.7868	rs2072712;rs11552116;rs35958880;rs58864041;rs2072712	.	.	.	X	109	.	.	R	+	1	2	NCF4	35601748	0.008000	0.16893	0.333000	0.25482	0.823000	0.46562	-1.907000	0.01589	-2.252000	0.00699	-0.827000	0.03088	CGA	C|0.886;T|0.114	0.114	strong		0.597	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		T	37271802	C	T	37271802	2	4	22	1	0	0	0	0	0	0	0	1	10218	547	19	1		1	NCF4	22	37271802	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	369543	37271802	14032764	10934	16042										
NCF4	4689	hgsc.bcm.edu	37	chr22	37273742	37273742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatctggttcggctgctgtcGgatgaggacgtagcgctcat	15	9	2	1	rs11552115	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37273742G>A	ENST00000248899.6	+	10	1081	c.897G>A	c.(895-897)tcG>tcA	p.S299S	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	299	OPR.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GGCTGCTGTCGGATGAGGACG	0.587													G|||	674	0.134585	0.2655	0.1398	5008	,	,		17155	0.0645		0.0656	False		,,,				2504	0.0971				p.S299S		Atlas-SNP	.											.	NCF4	66	.	0			c.G897A						PASS	.	G	,	958,3448	361.1+/-315.5	94,770,1339	59	53	55		897,	-10.9	0.1	22	dbSNP_120	55	592,8008	157.5+/-211.1	21,550,3729	no	coding-synonymous,utr-3	NCF4	NM_000631.4,NM_013416.3	,	115,1320,5068	AA,AG,GG		6.8837,21.7431,11.9176	,	299/340,	37273742	1550,11456	2203	4300	6503	SO:0001819	synonymous_variant	4689	exon10			GCTGTCGGATGAG	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.897G>A	22.37:g.37273742G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	38	0.387755	NM_000631	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	CCDS13934.1																																																																																			G|0.883;A|0.117	0.117	strong		0.587	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		A	37273742	G	A	37273742	2	1	22	1	0	0	0	0	0	0	0	1	10218	1103	39	1		1	NCF4	22	37273742	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1940	37273742	14030824	10935	16043										
CSF2RB	1439	hgsc.bcm.edu	37	chr22	37326443	37326443	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcccagccccagaacctgGagtgcttctttgacggggcc	13	14	1	2	rs16845	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37326443G>C	ENST00000403662.3	+	7	967	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	CSF2RB_ENST00000262825.5_Missense_Mutation_p.E249Q|CSF2RB_ENST00000406230.1_Missense_Mutation_p.E249Q|CSF2RB_ENST00000536485.1_Missense_Mutation_p.E190Q			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	249			E -> Q (in dbSNP:rs16845).		cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGAACCTGGAGTGCTTCTT	0.622													C|||	521	0.104034	0.2148	0.0476	5008	,	,		18469	0.004		0.0477	False		,,,				2504	0.1554				p.E249Q		Atlas-SNP	.											.	CSF2RB	104	.	0			c.G745C						PASS	.	C	GLN/GLU	934,3472	735.2+/-410.7	93,748,1362	106	106	106		745	5	1	22	dbSNP_60	106	468,8132	797.6+/-407.4	7,454,3839	yes	missense	CSF2RB	NM_000395.2	29	100,1202,5201	CC,CG,GG		5.4419,21.1984,10.7796	benign	249/898	37326443	1402,11604	2203	4300	6503	SO:0001583	missense	1439	exon7			AACCTGGAGTGCT	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.745G>C	22.37:g.37326443G>C	ENSP00000384053:p.Glu249Gln	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	98	43	0.438776	NM_000395	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	177	0.08104395604395605	120	0.24390243902439024	18	0.049723756906077346	4	0.006993006993006993	35	0.04617414248021108	C	6.917	0.538836	0.13250	0.211984	0.054419	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.04	5.04	0.67666	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.174780	0.28360	N	0.015633	T	0.00012	0.0000	N	0.00063	-2.32	0.52501	P	4.999999999999449E-5	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	9	0.02654	T	1	-18.811	13.2198	0.59881	0.0:0.8396:0.1604:0.0	rs16845;rs2228091;rs17402640;rs16845	249;249	P32927-2;P32927	.;IL3RB_HUMAN	Q	249;249;249;249;169;190	ENSP00000384053:E249Q;ENSP00000262825:E249Q;ENSP00000385271:E249Q;ENSP00000393585:E169Q;ENSP00000440003:E190Q	ENSP00000262825:E249Q	E	+	1	0	CSF2RB	35656389	0.905000	0.30787	0.986000	0.45419	0.953000	0.61014	1.340000	0.33896	1.255000	0.44051	-0.322000	0.08575	GAG	G|0.901;C|0.099	0.099	strong		0.622	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		C	37326443	G	C	37326443	3	2	22	1	0	0	0	0	1	0	0	0	3935	1175	41	4	767	4	CSF2RB	22	37326443	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	52701	37326443	13978123	10936	16044										
C22orf33	339669	hgsc.bcm.edu	37	chr22	37397876	37397876	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctggcccctgctatgacAcctgctcctcggagaccagc	9	18	0	2	rs148258673	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37397876A>G	ENST00000405091.2	-	4	741		c.e4+1		TEX33_ENST00000402860.3_Splice_Site|TEX33_ENST00000381821.1_Splice_Site			O43247	TEX33_HUMAN	testis expressed 33																		CTGCTATGACACCTGCTCCTC	0.493													A|||	11	0.00219649	0.0076	0.0014	5008	,	,		21381	0.0		0.0	False		,,,				2504	0.0				.		Atlas-SNP	.											.	TEX33	25	.	0			c.489+2T>C						PASS	.	A	,	62,4344		0,62,2141	86	58	68		,	4.6	1	22	dbSNP_134	68	0,8600		0,0,4300	yes	splice-5,splice-5	C22orf33	NM_001163857.1,NM_178552.3	,	0,62,6441	GG,GA,AA		0.0,1.4072,0.4767	,	,	37397876	62,12944	2203	4300	6503	SO:0001630	splice_region_variant	339669	exon4			TATGACACCTGCT	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.489+1T>C	22.37:g.37397876A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	101	44	0.435644	NM_001163857	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Splice_Site	SNP	ENST00000405091.2	37	CCDS54524.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	15.90	2.968886	0.53614	0.014072	0.0	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.68	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1587	0.37009	0.9146:0.0:0.0854:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf33	35727822	0.995000	0.38212	0.992000	0.48379	0.817000	0.46193	3.503000	0.53340	2.159000	0.67721	0.533000	0.62120	.	A|0.997;G|0.003	0.003	strong		0.493	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552	Intron	G	37397876	A	G	37397876	5	3	22	1	0	0	0	0	0	0	1	0	2145	173	6	2	367	2	C22orf33	22	37397876	Splice_Site	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71433	37397876	13906690	10937	16045										
TMPRSS6	164656	hgsc.bcm.edu	37	chr22	37462885	37462885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgacaggcatccttcttgCccttgcggtagccggcacac	10	16	1	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37462885C>T	ENST00000346753.3	-	17	2374	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G766D|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G766D|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G744D	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	753	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ATCCTTCTTGCCCTTGCGGTA	0.607																																					p.G753D		Atlas-SNP	.											TMPRSS6,NS,neuroblastoma,+1,1	TMPRSS6	99	1	0			c.G2258A						scavenged	.						114	86	96					22																	37462885		2203	4300	6503	SO:0001583	missense	164656	exon17			TTCTTGCCCTTGC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2258G>A	22.37:g.37462885C>T	ENSP00000334962:p.Gly753Asp	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	191	3	0.0157068	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892985	0.91889	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	4.72	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.134612	0.49305	D	0.000159	D	0.94991	0.8379	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.95900	0.8914	10	0.87932	D	0	.	17.6779	0.88235	0.0:1.0:0.0:0.0	.	766;753	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	D	766;753;744;766	ENSP00000371211:G766D;ENSP00000334962:G753D;ENSP00000385453:G744D;ENSP00000384964:G766D	ENSP00000334962:G753D	G	-	2	0	TMPRSS6	35792831	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.582000	0.82546	2.151000	0.67156	0.591000	0.81541	GGC	.	.	none		0.607	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37462885	C	T	37462885	3	4	22	1	0	0	0	0	1	0	0	0	16248	739	26	2	185	2	TMPRSS6	22	37462885	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	65009	37462885	13841681	10938	16046										
TMPRSS6	164656	hgsc.bcm.edu	37	chr22	37480797	37480797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggagcagtgggtttggggCgagtagtagctggggaagta	20	4	0	0	rs2111833	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37480797C>T	ENST00000346753.3	-	9	1199	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	TMPRSS6_ENST00000406856.1_Silent_p.S352S|TMPRSS6_ENST00000442782.2_Silent_p.S361S|TMPRSS6_ENST00000381792.2_Silent_p.S352S|TMPRSS6_ENST00000406725.1_Silent_p.S352S|RP5-1170K4.7_ENST00000414203.2_RNA	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	361	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGTTTGGGGCGAGTAGTAGC	0.652													C|||	1567	0.312899	0.3797	0.1988	5008	,	,		18698	0.3046		0.3877	False		,,,				2504	0.2352				p.S361S		Atlas-SNP	.											TMPRSS6_ENST00000442782,NS,carcinoma,-1,2	TMPRSS6	99	2	0			c.G1083A						PASS	.	C		1646,2752		331,984,884	87	73	78		1083	-9.1	0.9	22	dbSNP_96	78	2875,5703		527,1821,1941	no	coding-synonymous	TMPRSS6	NM_153609.2		858,2805,2825	TT,TC,CC		33.516,37.4261,34.8412		361/812	37480797	4521,8455	2199	4289	6488	SO:0001819	synonymous_variant	164656	exon9			TTGGGGCGAGTAG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1083G>A	22.37:g.37480797C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	117	50	0.42735	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			C|0.669;T|0.331	0.331	strong		0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37480797	C	T	37480797	2	4	22	1	0	0	0	0	0	0	0	1	16248	755	27	1		1	TMPRSS6	22	37480797	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	17912	37480797	13823769	10939	16047										
SSTR3	6753	hgsc.bcm.edu	37	chr22	37602611	37602611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtagctgatgcgcatcgtgCtggacttctccccagtggaa	13	11	1	1	rs229568	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37602611C>G	ENST00000328544.3	-	2	1765	c.1232G>C	c.(1231-1233)aGc>aCc	p.S411T	SSTR3_ENST00000402501.1_Missense_Mutation_p.S411T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	411			S -> T (in dbSNP:rs229568).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCGCATCGTGCTGGACTTCTC	0.657													C|||	319	0.0636981	0.2284	0.0202	5008	,	,		16100	0.0		0.003	False		,,,				2504	0.0				p.S411T		Atlas-SNP	.											.	SSTR3	42	.	0			c.G1232C						PASS	.	C	THR/SER	912,3494	340.7+/-306.4	97,718,1388	55	59	58		1232	3.4	0	22	dbSNP_79	58	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SSTR3	NM_001051.2	58	97,725,5681	GG,GC,CC		0.0814,20.699,7.066	benign	411/419	37602611	919,12087	2203	4300	6503	SO:0001583	missense	6753	exon2			ATCGTGCTGGACT		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1232G>C	22.37:g.37602611C>G	ENSP00000330138:p.Ser411Thr	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_001051	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	117	0.05357142857142857	107	0.21747967479674796	8	0.022099447513812154	0	0.0	2	0.002638522427440633	C	8.330	0.826175	0.16749	0.20699	8.14E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.73047	-0.71;-0.71	5.51	3.4	0.38934	.	1.198980	0.05892	N	0.628461	T	0.00073	0.0002	L	0.43152	1.355	0.42474	P	0.00717000000000001	B	0.27559	0.181	B	0.19148	0.024	T	0.04255	-1.0965	9	0.56958	D	0.05	.	12.2253	0.54457	0.0:0.8595:0.0:0.1405	rs229568;rs16997931;rs229568	411	P32745	SSR3_HUMAN	T	411	ENSP00000330138:S411T;ENSP00000384904:S411T	ENSP00000330138:S411T	S	-	2	0	SSTR3	35932557	0.000000	0.05858	0.027000	0.17364	0.063000	0.16089	0.291000	0.18994	1.328000	0.45358	0.491000	0.48974	AGC	C|0.934;G|0.066	0.066	strong		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			G	37602611	C	G	37602611	3	3	22	1	0	0	0	0	1	0	0	0	15198	797	28	4	28	4	SSTR3	22	37602611	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	121814	37602611	13701955	10940	16048										
SSTR3	6753	hgsc.bcm.edu	37	chr22	37603744	37603744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccctgccgggcttgggccCgccgacacgttgcccagggt	15	16	0	0	rs86583	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37603744C>T	ENST00000328544.3	-	2	632	c.99G>A	c.(97-99)gcG>gcA	p.A33A	SSTR3_ENST00000402501.1_Silent_p.A33A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	33			A -> V (in dbSNP:rs4988466).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGCTTGGGCCCGCCGACACGT	0.647													C|||	2043	0.407947	0.5461	0.3343	5008	,	,		17335	0.5863		0.2247	False		,,,				2504	0.2781				p.A33A		Atlas-SNP	.											SSTR3,NS,carcinoma,-1,1	SSTR3	42	1	0			c.G99A						PASS	.	C		2134,2270	550.2+/-378.0	503,1128,571	45	47	46		99	-7.8	0	22	dbSNP_79	46	1779,6821	309.2+/-309.3	185,1409,2706	no	coding-synonymous	SSTR3	NM_001051.2		688,2537,3277	TT,TC,CC		20.686,48.4559,30.0907		33/419	37603744	3913,9091	2202	4300	6502	SO:0001819	synonymous_variant	6753	exon2			TGGGCCCGCCGAC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.99G>A	22.37:g.37603744C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	129	64	0.496124	NM_001051	A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	CCDS13944.1																																																																																			C|0.664;T|0.336	0.336	strong		0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			T	37603744	C	T	37603744	2	4	22	1	0	0	0	0	0	0	0	1	15198	639	23	1		1	SSTR3	22	37603744	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1133	37603744	13700822	10941	16049										
RAC2	5880	hgsc.bcm.edu	37	chr22	37622815	37622815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcaggcctctctgggtgagAgctgagcactccaggtattt	12	10	2	2	rs1064498	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37622815A>G	ENST00000249071.6	-	6	598	c.477T>C	c.(475-477)gcT>gcC	p.A159A	RAC2_ENST00000406508.1_Silent_p.A115A|RAC2_ENST00000405484.1_Silent_p.A152A	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	159					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TCTGGGTGAGAGCTGAGCACT	0.632													g|||	1239	0.247404	0.4508	0.1023	5008	,	,		15446	0.3105		0.1501	False		,,,				2504	0.1104				p.A159A		Atlas-SNP	.											.	RAC2	22	.	0			c.T477C						PASS	.			1718,2688	650.4+/-399.0	342,1034,827	57	65	62		477	-0.1	0.9	22	dbSNP_86	62	1212,7386	761.9+/-407.6	81,1050,3168	no	coding-synonymous	RAC2	NM_002872.3		423,2084,3995	GG,GA,AA		14.0963,38.9923,22.5315		159/193	37622815	2930,10074	2203	4299	6502	SO:0001819	synonymous_variant	5880	exon6			GGTGAGAGCTGAG	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.477T>C	22.37:g.37622815A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_002872	Q9UDJ4	Silent	SNP	ENST00000249071.6	37	CCDS13945.1																																																																																			T|0.000;G|0.229;A|0.771	0.229	strong		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			G	37622815	A	G	37622815	2	3	22	1	0	0	0	0	0	0	0	1	12975	291	11	3		3	RAC2	22	37622815	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	19071	37622815	13681751	10942	16050										
CYTH4	27128	hgsc.bcm.edu	37	chr22	37693632	37693632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtatttcattgagcacaagCtgctgacccctgacgtccag	9	12	1	3	rs73887105	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37693632C>T	ENST00000248901.6	+	5	449	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	CYTH4_ENST00000405206.3_Silent_p.L88L|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.L88L	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	88	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGAGCACAAGCTGCTGACCCC	0.572													C|||	31	0.0061901	0.0227	0.0014	5008	,	,		20239	0.0		0.0	False		,,,				2504	0.0				p.L88L		Atlas-SNP	.											.	CYTH4	51	.	0			c.C262T						PASS	.	C		102,4304	81.4+/-119.9	1,100,2102	74	68	70		262	4	1	22	dbSNP_130	70	0,8600		0,0,4300	no	coding-synonymous	CYTH4	NM_013385.3		1,100,6402	TT,TC,CC		0.0,2.315,0.7843		88/395	37693632	102,12904	2203	4300	6503	SO:0001819	synonymous_variant	27128	exon5			CACAAGCTGCTGA	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.262C>T	22.37:g.37693632C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	93	48	0.516129	NM_013385	Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	CCDS13946.1																																																																																			C|0.992;T|0.008	0.008	strong		0.572	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			T	37693632	C	T	37693632	2	4	22	1	0	0	0	0	0	0	0	1	4206	796	28	2		2	CYTH4	22	37693632	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70817	37693632	13610934	10943	16051										
LGALS2	3957	hgsc.bcm.edu	37	chr22	37966314	37966314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgttgaacccgccccttaCgctcaggtagctcaggtggc	11	14	2	1	rs2235339	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37966314C>T	ENST00000215886.4	-	4	529	c.355G>A	c.(355-357)Gta>Ata	p.V119I		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	119	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.		V -> I (in dbSNP:rs2235339). {ECO:0000269|PubMed:3020551}.				carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.V119I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CCGCCCCTTACGCTCAGGTAG	0.502													c|||	273	0.0545128	0.1634	0.0101	5008	,	,		20669	0.0427		0.002	False		,,,				2504	0.0051				p.V119I	GBM(193;1840 2185 13711 20676 24505)	Atlas-SNP	.											LGALS2,NS,carcinoma,0,1	LGALS2	16	1	1	Substitution - Missense(1)	stomach(1)	c.G355A						PASS	.	T	ILE/VAL	553,3853	248.1+/-256.1	38,477,1688	89	93	92		355	0	0	22	dbSNP_98	92	3,8597	3.7+/-12.6	0,3,4297	yes	missense	LGALS2	NM_006498.2	29	38,480,5985	TT,TC,CC		0.0349,12.5511,4.275	benign	119/133	37966314	556,12450	2203	4300	6503	SO:0001583	missense	3957	exon4			CCCTTACGCTCAG		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.355G>A	22.37:g.37966314C>T	ENSP00000215886:p.Val119Ile	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	127	54	0.425197	NM_006498	Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	CCDS13950.1	103	0.04716117216117216	68	0.13821138211382114	6	0.016574585635359115	28	0.04895104895104895	1	0.0013192612137203166	c	9.643	1.139575	0.21205	0.125511	3.49E-4	ENSG00000100079	ENST00000215886	T	0.06608	3.28	5.69	-0.0117	0.13991	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.409539	0.27331	N	0.019843	T	0.00039	0.0001	N	0.13272	0.32	0.80722	P	0.0	B	0.26445	0.149	B	0.25614	0.062	T	0.44097	-0.9350	9	0.02654	T	1	-9.3003	5.5936	0.17315	0.0:0.4847:0.1354:0.3798	rs2235339;rs2235339	119	P05162	LEG2_HUMAN	I	119	ENSP00000215886:V119I	ENSP00000215886:V119I	V	-	1	0	LGALS2	36296260	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.060000	0.11712	0.056000	0.16144	-0.927000	0.02713	GTA	C|0.948;T|0.052	0.052	strong		0.502	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		T	37966314	C	T	37966314	3	4	22	1	0	0	0	0	1	0	0	0	8742	536	19	1	47	1	LGALS2	22	37966314	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	272682	37966314	13338252	10944	16052										
LGALS2	3957	hgsc.bcm.edu	37	chr22	37966409	37966409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatttgtcactctcaaagGtcactgtgaactgtggggag	12	7	3	2	rs73884090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:37966409G>A	ENST00000215886.4	-	4	434	c.260C>T	c.(259-261)aCc>aTc	p.T87I		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	87	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ACTCTCAAAGGTCACTGTGAA	0.577													G|||	170	0.0339457	0.1225	0.0086	5008	,	,		18900	0.0		0.002	False		,,,				2504	0.0				p.T87I	GBM(193;1840 2185 13711 20676 24505)	Atlas-SNP	.											.	LGALS2	16	.	0			c.C260T						PASS	.	G	ILE/THR	393,4013	195.3+/-220.0	22,349,1832	80	77	78		260	2.4	0.4	22	dbSNP_130	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LGALS2	NM_006498.2	89	22,351,6130	AA,AG,GG		0.0233,8.9197,3.0371	probably-damaging	87/133	37966409	395,12611	2203	4300	6503	SO:0001583	missense	3957	exon4			TCAAAGGTCACTG		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.260C>T	22.37:g.37966409G>A	ENSP00000215886:p.Thr87Ile	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	177	82	0.463277	NM_006498	Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	CCDS13950.1	53	0.024267399267399268	47	0.09552845528455285	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	G	22.0	4.233869	0.79688	0.089197	2.33E-4	ENSG00000100079	ENST00000215886	T	0.05855	3.38	5.83	2.41	0.29592	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.524912	0.21727	N	0.070021	T	0.00328	0.0010	L	0.54908	1.71	0.27707	N	0.945575	D	0.56287	0.975	P	0.57152	0.814	T	0.05273	-1.0895	10	0.54805	T	0.06	-3.1337	7.5839	0.27980	0.0801:0.0:0.4258:0.4941	.	87	P05162	LEG2_HUMAN	I	87	ENSP00000215886:T87I	ENSP00000215886:T87I	T	-	2	0	LGALS2	36296355	0.996000	0.38824	0.359000	0.25824	0.610000	0.37248	1.438000	0.35002	0.771000	0.33359	0.561000	0.74099	ACC	G|0.973;A|0.027	0.027	strong		0.577	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		A	37966409	G	A	37966409	3	1	22	1	0	0	0	0	1	0	0	0	8742	1261	44	2	142	2	LGALS2	22	37966409	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	95	37966409	13338157	10945	16053										
SH3BP1	23616	hgsc.bcm.edu	37	chr22	38035851	38035851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccagacgggcagcttgggAcggtgagtgtcacccgcttc	15	13	1	2	rs13055139	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38035851A>G	ENST00000357436.4	+	1	370	c.57A>G	c.(55-57)ggA>ggG	p.G19G	SH3BP1_ENST00000442465.2_Silent_p.G19G|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Silent_p.G19G|SH3BP1_ENST00000599616.1_5'Flank	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	19	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCAGCTTGGGACGGTGAGTGT	0.701													A|||	1094	0.21845	0.382	0.1412	5008	,	,		8162	0.2252		0.0775	False		,,,				2504	0.1902				p.G19G		Atlas-SNP	.											.	SH3BP1	41	.	0			c.A57G						PASS	.	A		998,3196		114,770,1213	6	8	7		57	2.9	1	22	dbSNP_121	7	578,7788		18,542,3623	no	coding-synonymous	SH3BP1	NM_018957.3		132,1312,4836	GG,GA,AA		6.9089,23.7959,12.5478		19/702	38035851	1576,10984	2097	4183	6280	SO:0001819	synonymous_variant	23616	exon1			CTTGGGACGGTGA		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.57A>G	22.37:g.38035851A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	109	42	0.385321	NM_018957	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			A|0.816;G|0.184	0.184	strong		0.701	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		G	38035851	A	G	38035851	2	3	22	1	0	0	0	0	0	0	0	1	14244	262	10	2		2	SH3BP1	22	38035851	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69442	38035851	13268715	10946	16054										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38129311	38129311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatttgctcataggaagtcCgaggcagcgggggccttcca	14	11	1	0	rs200990219	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38129311C>T	ENST00000406386.3	+	8	4209	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1318					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATAGGAAGTCCGAGGCAGCGG	0.652													C|||	10	0.00199681	0.0076	0.0	5008	,	,		15854	0.0		0.0	False		,,,				2504	0.0				p.S1318S		Atlas-SNP	.											.	TRIOBP	262	.	0			c.C3954T						PASS	.	C		12,3732		0,12,1860	8	14	12		3954	-1.1	1	22		12	0,7806		0,0,3903	no	coding-synonymous	TRIOBP	NM_001039141.2		0,12,5763	TT,TC,CC		0.0,0.3205,0.1039		1318/2366	38129311	12,11538	1872	3903	5775	SO:0001819	synonymous_variant	11078	exon8			GAAGTCCGAGGCA	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3954C>T	22.37:g.38129311C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	170	80	0.470588	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																			C|0.998;T|0.002	0.002	strong		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38129311	C	T	38129311	2	4	22	1	0	0	0	0	0	0	0	1	16550	639	23	1		1	TRIOBP	22	38129311	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93460	38129311	13175255	10947	16055										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38130459	38130459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acccggcggagccaagcagaGccccctcatccttggagtcc	11	17	1	1	rs8140207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38130459G>T	ENST00000406386.3	+	9	4371	c.4116G>T	c.(4114-4116)gaG>gaT	p.E1372D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1372			E -> D (in dbSNP:rs8140207).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCAAGCAGAGCCCCCTCATC	0.652													G|||	1322	0.263978	0.0401	0.2968	5008	,	,		16877	0.3016		0.3241	False		,,,				2504	0.4427				p.E1372D		Atlas-SNP	.											.	TRIOBP	262	.	0			c.G4116T						PASS	.	G	ASP/GLU	295,3593		11,273,1660	31	35	34		4116	0.9	0	22	dbSNP_116	34	2442,5822		337,1768,2027	yes	missense	TRIOBP	NM_001039141.2	45	348,2041,3687	TT,TG,GG		29.5499,7.5874,22.523	benign	1372/2366	38130459	2737,9415	1944	4132	6076	SO:0001583	missense	11078	exon9			AGCAGAGCCCCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4116G>T	22.37:g.38130459G>T	ENSP00000384312:p.Glu1372Asp	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	174	85	0.488506	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	585	0.26785714285714285	25	0.0508130081300813	109	0.3011049723756906	201	0.3513986013986014	250	0.32981530343007914	G	10.95	1.496753	0.26861	0.075874	0.295499	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.28454	1.61	5.45	0.937	0.19494	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.58432	P	1.999999999946489E-6	B	0.21071	0.051	B	0.17979	0.02	T	0.46789	-0.9166	8	0.22109	T	0.4	.	3.1706	0.06551	0.3631:0.0:0.4543:0.1825	rs8140207;rs8140207	1372	Q9H2D6	TARA_HUMAN	D	1372;1333	ENSP00000384312:E1372D	ENSP00000384312:E1372D	E	+	3	2	TRIOBP	36460405	0.008000	0.16893	0.010000	0.14722	0.219000	0.24729	-0.109000	0.10840	0.228000	0.21019	0.563000	0.77884	GAG	G|0.726;T|0.274	0.274	strong		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38130459	G	T	38130459	3	4	22	1	0	0	0	0	1	0	0	0	16550	962	34	4	4142	4	TRIOBP	22	38130459	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1148	38130459	13174107	10948	16056										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38164106	38164106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaagccatgaagaaggcctaCcaggaagagctgagccgaga	14	9	0	5	rs4821708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38164106C>T	ENST00000406386.3	+	19	6753	c.6498C>T	c.(6496-6498)taC>taT	p.Y2166Y	TRIOBP_ENST00000403663.2_Silent_p.Y453Y	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2166					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAAGGCCTACCAGGAAGAGC	0.612													C|||	1326	0.264776	0.0408	0.2997	5008	,	,		18755	0.2927		0.336	False		,,,				2504	0.4407				p.Y2166Y		Atlas-SNP	.											TRIOBP_ENST00000344404,NS,carcinoma,0,1	TRIOBP	262	1	0			c.C6498T						PASS	.	C	,	303,3729		11,281,1724	33	37	35		6498,1359	1	1	22	dbSNP_111	35	2561,5783		367,1827,1978	no	coding-synonymous,coding-synonymous	TRIOBP	NM_001039141.2,NM_007032.5	,	378,2108,3702	TT,TC,CC		30.6927,7.5149,23.1416	,	2166/2366,453/653	38164106	2864,9512	2016	4172	6188	SO:0001819	synonymous_variant	11078	exon19			GGCCTACCAGGAA	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6498C>T	22.37:g.38164106C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	109	60	0.550459	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																			C|0.739;T|0.261	0.261	strong		0.612	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38164106	C	T	38164106	2	4	22	1	0	0	0	0	0	0	0	1	16550	518	18	2		2	TRIOBP	22	38164106	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	33647	38164106	13140460	10949	16057										
GCAT	23464	hgsc.bcm.edu	37	chr22	38205989	38205989	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctttccaggcctgccctTgccccacctgagctgctgta	8	17	1	1	rs2285178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38205989T>C	ENST00000248924.6	+	2	252				GCAT_ENST00000323205.6_Missense_Mutation_p.L77S|GCAT_ENST00000415371.1_Intron	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase						biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGCCTGCCCTTGCCCCACCTG	0.557													.|||	1380	0.275559	0.1014	0.3098	5008	,	,		18233	0.3135		0.332	False		,,,				2504	0.3896				p.L77S		Atlas-SNP	.											.	GCAT	27	.	0			c.T230C						PASS	.	T	SER/LEU,	618,3788	253.4+/-259.3	47,524,1632	66	43	51		230,	0	0	22	dbSNP_100	51	2672,5926	399.5+/-346.5	383,1906,2010	yes	missense,intron	GCAT	NM_001171690.1,NM_014291.3	145,	430,2430,3642	CC,CT,TT		31.077,14.0263,25.2999	,	77/446,	38205989	3290,9714	2203	4299	6502	SO:0001627	intron_variant	23464	exon2			TGCCCTTGCCCCA	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.197-45T>C	22.37:g.38205989T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	173	83	0.479769	NM_001171690	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	CCDS13957.1	614	0.28113553113553114	54	0.10975609756097561	114	0.3149171270718232	195	0.3409090909090909	251	0.3311345646437995	t	5.786	0.329321	0.10956	0.140263	0.31077	ENSG00000100116	ENST00000323205;ENST00000445195;ENST00000394944	D;D	0.94793	-3.52;-1.86	3.68	0.00572	0.14064	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	B	0.19583	0.037	B	0.13407	0.009	T	0.09378	-1.0677	7	0.87932	D	0	.	4.1025	0.10020	0.3637:0.0:0.1877:0.4486	rs2285178;rs59294489;rs2285178	77	E2QC23	.	S	77	ENSP00000371110:L77S;ENSP00000406719:L77S	ENSP00000371110:L77S	L	+	2	0	GCAT	36535935	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.213000	0.17521	-0.072000	0.12864	0.402000	0.26972	TTG	T|0.723;C|0.277	0.277	strong		0.557	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		C	38205989	T	C	38205989	1	2	22	0	1	0	0	0	0	0	0	0	6284	1821	63	2		2	GCAT	22	38205989	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	41883	38205989	13098577	10950	16058										
GCAT	23464	hgsc.bcm.edu	37	chr22	38211728	38211728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcggcagcgcgcccggccAtacctcttctccaacagtct	9	18	3	0	rs34340481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38211728A>G	ENST00000248924.6	+	7	929	c.873A>G	c.(871-873)ccA>ccG	p.P291P	GCAT_ENST00000323205.6_Silent_p.P317P	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GCGCCCGGCCATACCTCTTCT	0.642													A|||	228	0.0455272	0.1649	0.0115	5008	,	,		17865	0.0		0.002	False		,,,				2504	0.0				p.P317P		Atlas-SNP	.											.	GCAT	27	.	0			c.A951G						PASS	.	A	,	584,3822	255.5+/-260.7	37,510,1656	88	97	94		951,873	-0.2	1	22	dbSNP_126	94	24,8576	15.3+/-51.7	0,24,4276	no	coding-synonymous,coding-synonymous	GCAT	NM_001171690.1,NM_014291.3	,	37,534,5932	GG,GA,AA		0.2791,13.2547,4.6748	,	317/446,291/420	38211728	608,12398	2203	4300	6503	SO:0001819	synonymous_variant	23464	exon7			CCGGCCATACCTC	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.873A>G	22.37:g.38211728A>G		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	263	119	0.452471	NM_001171690	E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	CCDS13957.1																																																																																			A|0.958;G|0.042	0.042	strong		0.642	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		G	38211728	A	G	38211728	2	3	22	1	0	0	0	0	0	0	0	1	6284	204	8	2		2	GCAT	22	38211728	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	5739	38211728	13092838	10951	16059										
MICALL1	85377	hgsc.bcm.edu	37	chr22	38302469	38302469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgctgctggcctggtgccgcCgccagtgcgagggctaccgc	16	16	0	0	rs146549351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38302469C>T	ENST00000215957.6	+	1	166	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	14	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGGTGCCGCCGCCAGTGCGA	0.786													c|||	50	0.00998403	0.0371	0.0014	5008	,	,		3679	0.0		0.0	False		,,,				2504	0.0				p.R14C		Atlas-SNP	.											.	MICALL1	53	.	0			c.C40T						PASS	.		CYS/ARG	44,3156		1,42,1557	4	4	4		40	1	1	22	dbSNP_134	4	0,6182		0,0,3091	no	missense	MICALL1	NM_033386.3	180	1,42,4648	TT,TC,CC		0.0,1.375,0.469	probably-damaging	14/864	38302469	44,9338	1600	3091	4691	SO:0001583	missense	85377	exon1			TGCCGCCGCCAGT	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.40C>T	22.37:g.38302469C>T	ENSP00000215957:p.Arg14Cys	Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	128	0.05860805860805861	70	0.14227642276422764	22	0.06077348066298342	12	0.02097902097902098	24	0.0316622691292876	c	14.95	2.687334	0.48097	0.01375	0.0	ENSG00000100139	ENST00000215957	D	0.95342	-3.68	2.15	1.04	0.20106	Calponin homology domain (5);	.	.	.	.	T	0.15046	0.0363	M	0.92317	3.295	0.80722	D	1	B	0.14438	0.01	B	0.14023	0.01	T	0.69442	-0.5144	9	0.87932	D	0	.	8.698	0.34307	0.0:0.8737:0.0:0.1263	.	14	Q8N3F8	MILK1_HUMAN	C	14	ENSP00000215957:R14C	ENSP00000215957:R14C	R	+	1	0	MICALL1	36632415	1.000000	0.71417	0.985000	0.45067	0.590000	0.36582	4.587000	0.60991	0.179000	0.19938	0.165000	0.16767	CGC	C|0.942;T|0.058	0.058	strong		0.786	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		T	38302469	C	T	38302469	3	4	22	1	0	0	0	0	1	0	0	0	9573	652	23	1	42	1	MICALL1	22	38302469	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90741	38302469	13002097	10952	16060										
MICALL1	85377	hgsc.bcm.edu	37	chr22	38323700	38323700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agccagccctggccttgcccCcaggaccaggggcagctcag	13	17	1	0	rs2272829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38323700C>T	ENST00000215957.6	+	9	1874	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	583	Pro-rich.		P -> L (in dbSNP:rs2272829).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGCCTTGCCCCCAGGACCAGG	0.642													C|||	309	0.0617013	0.1195	0.0202	5008	,	,		15652	0.0496		0.0159	False		,,,				2504	0.0726				p.P583L		Atlas-SNP	.											.	MICALL1	53	.	0			c.C1748T						PASS	.	C	LEU/PRO	481,3925	224.9+/-240.9	26,429,1748	93	98	96		1748	3	0.2	22	dbSNP_100	96	174,8426	78.6+/-141.3	2,170,4128	yes	missense	MICALL1	NM_033386.3	98	28,599,5876	TT,TC,CC		2.0233,10.9169,5.0361	probably-damaging	583/864	38323700	655,12351	2203	4300	6503	SO:0001583	missense	85377	exon9			TTGCCCCCAGGAC	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1748C>T	22.37:g.38323700C>T	ENSP00000215957:p.Pro583Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	103	0.04716117216117216	48	0.0975609756097561	8	0.022099447513812154	32	0.055944055944055944	15	0.01978891820580475	C	10.47	1.358833	0.24598	0.109169	0.020233	ENSG00000100139	ENST00000215957;ENST00000402631	T;T	0.56941	0.43;1.8	5.2	3.01	0.34805	.	0.697298	0.12245	N	0.486132	T	0.01124	0.0037	M	0.67953	2.075	0.80722	P	0.0	B	0.26002	0.139	B	0.17433	0.018	T	0.11131	-1.0600	9	0.20046	T	0.44	.	9.9042	0.41366	0.1175:0.6636:0.2189:0.0	rs2272829	583	Q8N3F8	MILK1_HUMAN	L	583;10	ENSP00000215957:P583L;ENSP00000384608:P10L	ENSP00000215957:P583L	P	+	2	0	MICALL1	36653646	0.002000	0.14202	0.181000	0.23098	0.280000	0.26924	1.588000	0.36633	2.432000	0.82394	0.555000	0.69702	CCC	C|0.949;T|0.051	0.051	strong		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		T	38323700	C	T	38323700	3	4	22	1	0	0	0	0	1	0	0	0	9573	623	22	2	1782	2	MICALL1	22	38323700	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21231	38323700	12980866	10953	16061										
C22orf23	84645	hgsc.bcm.edu	37	chr22	38341124	38341124	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcttttccgttcctccaTgtccttccctgtggcaaaga	6	14	1	1	rs35562630	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38341124T>G	ENST00000249079.2	-	5	662	c.406A>C	c.(406-408)Atg>Ctg	p.M136L	C22orf23_ENST00000403305.1_Missense_Mutation_p.M136L|C22orf23_ENST00000403026.1_Missense_Mutation_p.M136L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	136			M -> L (in dbSNP:rs35562630).							endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CGTTCCTCCATGTCCTTCCCT	0.512													G|||	204	0.0407348	0.1513	0.0043	5008	,	,		16932	0.0		0.001	False		,,,				2504	0.0				p.M136L		Atlas-SNP	.											.	C22orf23	21	.	0			c.A406C						PASS	.	G	LEU/MET,LEU/MET	504,3902	779.8+/-414.4	23,458,1722	162	158	159		343,406	-8.1	0	22	dbSNP_126	159	7,8593	819.0+/-406.8	0,7,4293	yes	missense,missense	C22orf23	NM_001207062.1,NM_032561.4	15,15	23,465,6015	GG,GT,TT		0.0814,11.4389,3.929	benign,benign	115/197,136/218	38341124	511,12495	2203	4300	6503	SO:0001583	missense	84645	exon5			CCTCCATGTCCTT	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.406A>C	22.37:g.38341124T>G	ENSP00000249079:p.Met136Leu	Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	368	163	0.442935	NM_032561	Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	CCDS13962.1	74	0.03388278388278388	72	0.14634146341463414	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.88	2.367954	0.42003	0.114389	8.14E-4	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.27	-8.07	0.01098	.	2.120180	0.02082	N	0.052461	T	0.00073	0.0002	N	0.02202	-0.64	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05599	-1.0875	9	0.25751	T	0.34	8.7692	3.5531	0.07854	0.1443:0.121:0.2065:0.5283	rs35562630	136	Q9BZE7	EVG1_HUMAN	L	136	ENSP00000384667:M136L;ENSP00000249079:M136L;ENSP00000384618:M136L;ENSP00000395077:M136L	ENSP00000249079:M136L	M	-	1	0	C22orf23	36671070	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	-0.628000	0.05515	-1.268000	0.02439	-0.121000	0.15023	ATG	T|0.946;G|0.054	0.054	strong		0.512	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		G	38341124	T	G	38341124	3	3	22	1	0	0	0	0	1	0	0	0	2137	1464	51	5	259	5	C22orf23	22	38341124	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	17424	38341124	12963442	10954	16062										
SOX10	6663	hgsc.bcm.edu	37	chr22	38379543	38379543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggcaccagcgtccagtcGtagccgctgagcacctggct	13	14	0	1	rs73415876	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38379543G>A	ENST00000396884.2	-	2	531	c.249C>T	c.(247-249)taC>taT	p.Y83Y	SOX10_ENST00000470555.1_Intron|SOX10_ENST00000360880.2_Silent_p.Y83Y|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	83					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCGTCCAGTCGTAGCCGCTGA	0.657													G|||	205	0.0409345	0.152	0.0043	5008	,	,		11391	0.0		0.001	False		,,,				2504	0.0				p.Y83Y	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	Atlas-SNP	.											.	SOX10	48	.	0			c.C249T	GRCh37	CM981855	SOX10	M	rs73415876	PASS	.	G		496,3910	215.5+/-234.4	22,452,1729	64	40	48	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	249	1.1	1	22	dbSNP_130	48	7,8591	4.3+/-15.6	0,7,4292	no	coding-synonymous	SOX10	NM_006941.3		22,459,6021	AA,AG,GG		0.0814,11.2574,3.868		83/467	38379543	503,12501	2203	4299	6502	SO:0001819	synonymous_variant	6663	exon2			CCAGTCGTAGCCG		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.249C>T	22.37:g.38379543G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	120	65	0.541667	NM_006941	B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	37	CCDS13964.1																																																																																			A|0.044;G|0.956	0.044	strong		0.657	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		A	38379543	G	A	38379543	2	1	22	1	0	0	0	0	0	0	0	1	14941	1140	40	1		1	SOX10	22	38379543	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38419	38379543	12925023	10955	16063										
KCNJ4	3761	hgsc.bcm.edu	37	chr22	38822905	38822905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccagcatccggatgatgccCgcctcctccttggaacccgc	9	18	0	1	rs105153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38822905C>T	ENST00000303592.3	-	2	1491	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	411					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGATGATGCCCGCCTCCTCCT	0.677													C|||	308	0.0615016	0.1846	0.0187	5008	,	,		13455	0.0		0.0159	False		,,,				2504	0.0358				p.A411A		Atlas-SNP	.											.	KCNJ4	74	.	0			c.G1233A						PASS	.	C	,	746,3654	286.9+/-279.0	60,626,1514	53	61	58		1233,1233	-3.4	1	22	dbSNP_79	58	173,8427	77.8+/-140.4	2,169,4129	no	coding-synonymous,coding-synonymous	KCNJ4	NM_004981.1,NM_152868.1	,	62,795,5643	TT,TC,CC		2.0116,16.9545,7.0692	,	411/446,411/446	38822905	919,12081	2200	4300	6500	SO:0001819	synonymous_variant	3761	exon2			GATGCCCGCCTCC	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1233G>A	22.37:g.38822905C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	151	82	0.543046	NM_004981	Q14D44	Silent	SNP	ENST00000303592.3	37	CCDS13971.1																																																																																			C|0.929;T|0.071	0.071	strong		0.677	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		T	38822905	C	T	38822905	2	4	22	1	0	0	0	0	0	0	0	1	8053	639	23	1		1	KCNJ4	22	38822905	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	443362	38822905	12481661	10956	16064										
KCNJ4	3761	hgsc.bcm.edu	37	chr22	38823895	38823895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggtcaccgtggaagaaGgcgatacaccagaagaggag	14	9	1	3	rs105154	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:38823895G>A	ENST00000303592.3	-	2	501	c.243C>T	c.(241-243)gcC>gcT	p.A81A	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	81					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGTGGAAGAAGGCGATACACC	0.692													G|||	310	0.061901	0.1861	0.0187	5008	,	,		15064	0.0		0.0159	False		,,,				2504	0.0358				p.A81A		Atlas-SNP	.											.	KCNJ4	74	.	0			c.C243T						PASS	.	G	,	748,3658	294.7+/-283.3	60,628,1515	71	45	54		243,243	3.8	1	22	dbSNP_79	54	174,8426	78.4+/-141.0	2,170,4128	no	coding-synonymous,coding-synonymous	KCNJ4	NM_004981.1,NM_152868.1	,	62,798,5643	AA,AG,GG		2.0233,16.9768,7.089	,	81/446,81/446	38823895	922,12084	2203	4300	6503	SO:0001819	synonymous_variant	3761	exon2			GAAGAAGGCGATA	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.243C>T	22.37:g.38823895G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	32	14	0.4375	NM_004981	Q14D44	Silent	SNP	ENST00000303592.3	37	CCDS13971.1																																																																																			G|0.921;A|0.079	0.079	strong		0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		A	38823895	G	A	38823895	2	1	22	1	0	0	0	0	0	0	0	1	8053	987	35	2		2	KCNJ4	22	38823895	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	990	38823895	12480671	10957	16065										
CBY1	25776	hgsc.bcm.edu	37	chr22	39069181	39069181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctttcagagtccactgcTgaatcccacttaatggagaa	8	11	1	3	rs3747174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39069181T>C	ENST00000216029.3	+	5	455	c.321T>C	c.(319-321)gcT>gcC	p.A107A	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	107	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGTCCACTGCTGAATCCCACT	0.498													C|||	1431	0.285743	0.2897	0.2032	5008	,	,		20300	0.3502		0.2932	False		,,,				2504	0.2648				p.A150A		Atlas-SNP	.											.	CBY1	10	.	0			c.T450C						PASS	.	C	,	1279,3127	700.4+/-406.6	186,907,1110	71	65	67		321,321	-10.1	0.1	22	dbSNP_107	67	2514,6086	693.3+/-404.6	362,1790,2148	no	coding-synonymous,coding-synonymous	CBY1	NM_001002880.1,NM_015373.3	,	548,2697,3258	CC,CT,TT		29.2326,29.0286,29.1635	,	107/127,107/127	39069181	3793,9213	2203	4300	6503	SO:0001819	synonymous_variant	25776	exon6			CACTGCTGAATCC	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.321T>C	22.37:g.39069181T>C		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	70	38	0.542857	NM_001002880	B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	37	CCDS13974.1																																																																																			T|0.702;C|0.298	0.298	strong		0.498	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		C	39069181	T	C	39069181	2	2	22	1	0	0	0	0	0	0	0	1	2725	1567	55	3		3	CBY1	22	39069181	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	245286	39069181	12235385	10958	16066										
APOBEC3A	200315	hgsc.bcm.edu	37	chr22	39357581	39357581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagaacacacacgtgagaCtgcgtatcttcgctgcccgc	11	13	1	2	rs35994173	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39357581C>T	ENST00000402255.1	+	4	568	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	APOBEC3A_ENST00000249116.2_Silent_p.L122L			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	122					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					ACACGTGAGACTGCGTATCTT	0.567													C|||	1231	0.245807	0.2436	0.1527	5008	,	,		10317	0.3046		0.162	False		,,,				2504	0.3405				p.L122L		Atlas-SNP	.											.	APOBEC3A	20	.	0			c.C364T						PASS	.	C		1060,3198		275,510,1344	99	97	97		364	1.5	0	22	dbSNP_130	97	1500,6648		389,722,2963	no	coding-synonymous	APOBEC3A	NM_145699.3		664,1232,4307	TT,TC,CC		18.4094,24.8943,20.6352		122/200	39357581	2560,9846	2129	4074	6203	SO:0001819	synonymous_variant	200315	exon3			GTGAGACTGCGTA	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.364C>T	22.37:g.39357581C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	144	67	0.465278	NM_145699	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			C|0.803;T|0.197	0.197	strong		0.567	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		T	39357581	C	T	39357581	2	4	22	1	0	0	0	0	0	0	0	1	789	564	20	2		2	APOBEC3A	22	39357581	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288400	39357581	11946985	10959	16067										
APOBEC3A	200315	hgsc.bcm.edu	37	chr22	39357634	39357634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccctatataaggaggcActgcaaatgctgcgggatgc	12	11	0	0	rs2294363		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39357634A>G	ENST00000402255.1	+	4	621	c.417A>G	c.(415-417)gcA>gcG	p.A139A	APOBEC3A_ENST00000249116.2_Silent_p.A139A			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	139					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					ATAAGGAGGCACTGCAAATGC	0.577																																					p.A139A		Atlas-SNP	.											.	APOBEC3A	20	.	0			c.A417G						PASS	.						38	49	46					22																	39357634		1812	3940	5752	SO:0001819	synonymous_variant	200315	exon3			GGAGGCACTGCAA	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.417A>G	22.37:g.39357634A>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_145699	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			A|0.167;G|0.833	0.833	weak		0.577	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		G	39357634	A	G	39357634	2	3	22	1	0	0	0	0	0	0	0	1	789	146	6	2		2	APOBEC3A	22	39357634	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	53	39357634	11946932	10960	16068										
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39380131	39380131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctacgacaactttgaaaaCgaacccatcctctatggtcg	6	12	2	1	rs113972364	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39380131C>T	ENST00000333467.3	+	2	114	c.69C>T	c.(67-69)aaC>aaT	p.N23N	APOBEC3B_ENST00000407298.3_Silent_p.N23N|APOBEC3B_ENST00000402182.3_Silent_p.N23N	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	23					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ACTTTGAAAACGAACCCATCC	0.522													C|||	118	0.0235623	0.087	0.0043	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0				p.N23N		Atlas-SNP	.											.	APOBEC3B	32	.	0			c.C69T						PASS	.	C		276,4118		27,222,1948	73	76	75		69	0.2	0	22	dbSNP_132	75	3,8517		0,3,4257	no	coding-synonymous	APOBEC3B	NM_004900.3		27,225,6205	TT,TC,CC		0.0352,6.2813,2.1604		23/383	39380131	279,12635	2197	4260	6457	SO:0001819	synonymous_variant	9582	exon2			TGAAAACGAACCC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.69C>T	22.37:g.39380131C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	244	96	0.393443	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																			C|0.974;T|0.026	0.026	strong		0.522	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39380131	C	T	39380131	2	4	22	1	0	0	0	0	0	0	0	1	790	535	19	1		1	APOBEC3B	22	39380131	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	22497	39380131	11924435	10961	16069										
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39381957	39381957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgtgtggcgaagctggcCgaattcctgtctgagcaccc	13	12	1	1	rs150187552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39381957C>T	ENST00000333467.3	+	3	360	c.315C>T	c.(313-315)gcC>gcT	p.A105A	APOBEC3B_ENST00000407298.3_Silent_p.A105A|APOBEC3B_ENST00000402182.3_Silent_p.A105A	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	105					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGAAGCTGGCCGAATTCCTGT	0.572													C|||	20	0.00399361	0.0151	0.0	5008	,	,		14653	0.0		0.0	False		,,,				2504	0.0				p.A105A		Atlas-SNP	.											.	APOBEC3B	32	.	0			c.C315T						PASS	.	C		28,4376		3,22,2177	156	149	151		315	-4.2	0	22	dbSNP_134	151	0,8596		0,0,4298	no	coding-synonymous	APOBEC3B	NM_004900.3		3,22,6475	TT,TC,CC		0.0,0.6358,0.2154		105/383	39381957	28,12972	2202	4298	6500	SO:0001819	synonymous_variant	9582	exon3			GCTGGCCGAATTC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.315C>T	22.37:g.39381957C>T		Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	323	112	0.346749	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																			C|0.998;T|0.002	0.002	strong		0.572	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39381957	C	T	39381957	2	4	22	1	0	0	0	0	0	0	0	1	790	639	23	1		1	APOBEC3B	22	39381957	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1826	39381957	11922609	10962	16070										
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39387531	39387531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aacacacacgtgagactgcgCatcttcgctgcccgcatcta	8	15	2	1	rs200377379	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39387531C>T	ENST00000333467.3	+	6	963	c.918C>T	c.(916-918)cgC>cgT	p.R306R	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Silent_p.R281R|APOBEC3B_ENST00000402182.3_Silent_p.R306R	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	306				R -> P (in Ref. 1; AAD00089). {ECO:0000305}.	defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGAGACTGCGCATCTTCGCTG	0.582													C|||	13	0.00259585	0.0061	0.0	5008	,	,		15612	0.001		0.0	False		,,,				2504	0.0041				p.R306R		Atlas-SNP	.											APOBEC3B,colon,carcinoma,+2,2	APOBEC3B	32	2	0			c.C918T						scavenged	.						145	145	145					22																	39387531		2198	4283	6481	SO:0001819	synonymous_variant	9582	exon6			ACTGCGCATCTTC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.918C>T	22.37:g.39387531C>T		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	205	43	0.209756	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																			.	.	weak		0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39387531	C	T	39387531	2	4	22	1	0	0	0	0	0	0	0	1	790	697	25	2		2	APOBEC3B	22	39387531	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5574	39387531	11917035	10963	16071										
APOBEC3C	27350	hgsc.bcm.edu	37	chr22	39413957	39413957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaatctcaccatcttcaccGcccgcctctactacttccag	4	18	4	1	rs141108460		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39413957G>A	ENST00000361441.4	+	3	641	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	121					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CATCTTCACCGCCCGCCTCTA	0.587																																					p.A121T		Atlas-SNP	.											.	APOBEC3C	21	.	0			c.G361A						PASS	.	G	THR/ALA	1,4405		0,1,2202	113	118	117		361	-2.5	0	22	dbSNP_134	117	0,8600		0,0,4300	no	missense	APOBEC3C	NM_014508.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	121/191	39413957	1,13005	2203	4300	6503	SO:0001583	missense	27350	exon3			TTCACCGCCCGCC	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"Apolipoprotein B mRNA editing enzymes"	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.361G>A	22.37:g.39413957G>A	ENSP00000355340:p.Ala121Thr	Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	276	114	0.413043	NM_014508	B2R884|Q5JZ92|Q7Z2N7|Q96F12	Missense_Mutation	SNP	ENST00000361441.4	37	CCDS13983.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740041	0.49045	2.27E-4	0.0	ENSG00000244509	ENST00000361441	T	0.67523	-0.27	2.01	-2.48	0.06423	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.79936	0.4532	M	0.89095	3.005	0.38181	D	0.939611	D	0.89917	1.0	D	0.72982	0.979	T	0.79897	-0.1609	9	0.87932	D	0	.	8.5433	0.33406	0.0:0.0:0.4067:0.5932	.	121	Q9NRW3	ABC3C_HUMAN	T	121	ENSP00000355340:A121T	ENSP00000355340:A121T	A	+	1	0	APOBEC3C	37743903	0.644000	0.27277	0.035000	0.18076	0.027000	0.11550	0.674000	0.25218	-0.470000	0.06901	0.479000	0.44913	GCC	G|1.000;A|0.000	0.000	weak		0.587	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		A	39413957	G	A	39413957	3	1	22	1	0	0	0	0	1	0	0	0	791	1087	38	1	371	1	APOBEC3C	22	39413957	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26426	39413957	11890609	10964	16072										
ATF4	468	hgsc.bcm.edu	37	chr22	39918323	39918323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctctgtgggtctgcccgtCccaaaccttacgatcctcct	7	16	2	0	rs1803323	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39918323C>G	ENST00000337304.2	+	2	1654	c.772C>G	c.(772-774)Ccc>Gcc	p.P258A	ATF4_ENST00000404241.2_Missense_Mutation_p.P258A|ATF4_ENST00000396680.1_Missense_Mutation_p.P258A	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	258			P -> A (in dbSNP:rs1803323).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GTCTGCCCGTCCCAAACCTTA	0.522													C|||	86	0.0171725	0.0628	0.0043	5008	,	,		19286	0.0		0.0	False		,,,				2504	0.0				p.P258A		Atlas-SNP	.											.	ATF4	27	.	0			c.C772G						PASS	.	C	ALA/PRO,ALA/PRO	169,4237	99.8+/-138.5	5,159,2039	24	25	24		772,772	2	0.2	22	dbSNP_89	24	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ATF4	NM_001675.2,NM_182810.1	27,27	5,161,6337	GG,GC,CC		0.0233,3.8357,1.3148	possibly-damaging,possibly-damaging	258/352,258/352	39918323	171,12835	2203	4300	6503	SO:0001583	missense	468	exon2			GCCCGTCCCAAAC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.772C>G	22.37:g.39918323C>G	ENSP00000336790:p.Pro258Ala	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	329	178	0.541033	NM_001675	Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	CCDS13996.1	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	C	10.09	1.255962	0.22965	0.038357	2.33E-4	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.24350	1.86;1.86;1.86	5.24	2.04	0.26737	.	0.251601	0.40640	N	0.001054	T	0.04998	0.0134	M	0.68952	2.095	0.28571	N	0.910626	P	0.48294	0.908	B	0.44224	0.444	T	0.03784	-1.1004	10	0.87932	D	0	-11.5679	9.0061	0.36113	0.0:0.6756:0.0:0.3244	rs1803323;rs52835171;rs1803323	258	P18848	ATF4_HUMAN	A	258	ENSP00000384587:P258A;ENSP00000336790:P258A;ENSP00000379912:P258A	ENSP00000336790:P258A	P	+	1	0	ATF4	38248269	0.003000	0.15002	0.178000	0.23040	0.066000	0.16364	0.129000	0.15830	0.219000	0.20840	0.462000	0.41574	CCC	C|0.987;G|0.013	0.013	strong		0.522	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		G	39918323	C	G	39918323	3	3	22	1	0	0	0	0	1	0	0	0	1082	855	30	4	778	4	ATF4	22	39918323	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	504366	39918323	11386243	10965	16073										
CACNA1I	8911	hgsc.bcm.edu	37	chr22	39966856	39966856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaccccggagccccccatcCtccccgccaggcctggagga	12	20	0	0	rs3747178	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:39966856C>T	ENST00000402142.3	+	1	99	c.99C>T	c.(97-99)tcC>tcT	p.S33S	CACNA1I_ENST00000407673.1_Silent_p.S33S|CACNA1I_ENST00000401624.1_Silent_p.S33S|CACNA1I_ENST00000400164.3_Silent_p.S33S|CACNA1I_ENST00000404898.1_Silent_p.S33S|CACNA1I_ENST00000336649.4_Silent_p.S33S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	33					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCCCCATCCTCCCCGCCAG	0.677													C|||	1647	0.328874	0.0545	0.33	5008	,	,		14247	0.7272		0.3429	False		,,,				2504	0.274				p.S33S		Atlas-SNP	.											.	CACNA1I	264	.	0			c.C99T						PASS	.	C	,	351,3691		14,323,1684	27	33	31		99,99	-6.7	0.3	22	dbSNP_107	31	2504,5828		402,1700,2064	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	416,2023,3748	TT,TC,CC		30.0528,8.6838,23.0726	,	33/2189,33/2224	39966856	2855,9519	2021	4166	6187	SO:0001819	synonymous_variant	8911	exon1			CCCATCCTCCCCG	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.99C>T	22.37:g.39966856C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	143	68	0.475524	NM_001003406	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	CCDS46710.1																																																																																			C|0.650;T|0.350	0.350	strong		0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	39966856	C	T	39966856	2	4	22	1	0	0	0	0	0	0	0	1	2546	668	24	2		2	CACNA1I	22	39966856	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48533	39966856	11337710	10966	16074										
FAM83F	113828	hgsc.bcm.edu	37	chr22	40417780	40417780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgagaggcacccagccgaaaCggcatgggagaagcggcccg	16	13	0	2	rs5995793	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:40417780C>T	ENST00000333407.6	+	4	1360	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	FAM83F_ENST00000473717.1_Silent_p.N254N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	422										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCAGCCGAAACGGCATGGGAG	0.667													T|||	1443	0.288139	0.3979	0.1628	5008	,	,		15282	0.0853		0.2873	False		,,,				2504	0.4387				p.N422N		Atlas-SNP	.											.	FAM83F	29	.	0			c.C1266T						PASS	.	T		1481,2919		256,969,975	21	20	21		1266	-6	0.1	22	dbSNP_114	21	2483,6113		342,1799,2157	no	coding-synonymous	FAM83F	NM_138435.2		598,2768,3132	TT,TC,CC		28.8855,33.6591,30.5017		422/501	40417780	3964,9032	2200	4298	6498	SO:0001819	synonymous_variant	113828	exon4			CCGAAACGGCATG		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1266C>T	22.37:g.40417780C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	66	33	0.5	NM_138435	Q96FD6	Silent	SNP	ENST00000333407.6	37	CCDS14000.2																																																																																			C|0.719;T|0.281	0.281	strong		0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		T	40417780	C	T	40417780	2	4	22	1	0	0	0	0	0	0	0	1	5638	535	19	1		1	FAM83F	22	40417780	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	450924	40417780	10886786	10967	16075										
FAM83F	113828	hgsc.bcm.edu	37	chr22	40417820	40417820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggggaggccgcccccgccAggcgcttcagcagcaggctc	17	16	1	0	rs5995794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:40417820A>G	ENST00000333407.6	+	4	1400	c.1306A>G	c.(1306-1308)Agg>Ggg	p.R436G	FAM83F_ENST00000473717.1_Missense_Mutation_p.R268G	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	436			R -> G (in dbSNP:rs5995794).							breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGCCCCCGCCAGGCGCTTCAG	0.657													A|||	1358	0.271166	0.3359	0.1585	5008	,	,		14624	0.0863		0.2863	False		,,,				2504	0.4387				p.R436G		Atlas-SNP	.											FAM83F,NS,carcinoma,0,1	FAM83F	29	1	0			c.A1306G						PASS	.	A	GLY/ARG	1193,3207		184,825,1191	18	22	21		1306	2.7	0.9	22	dbSNP_114	21	2403,6191		332,1739,2226	yes	missense	FAM83F	NM_138435.2	125	516,2564,3417	GG,GA,AA		27.9614,27.1136,27.6743	possibly-damaging	436/501	40417820	3596,9398	2200	4297	6497	SO:0001583	missense	113828	exon4			CCCGCCAGGCGCT		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1306A>G	22.37:g.40417820A>G	ENSP00000330432:p.Arg436Gly	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	32	18	0.5625	NM_138435	Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	CCDS14000.2	500	0.22893772893772893	165	0.3353658536585366	62	0.1712707182320442	43	0.07517482517482517	230	0.3034300791556728	A	7.297	0.612217	0.14066	0.271136	0.279614	ENSG00000133477	ENST00000333407	T	0.10099	2.91	3.79	2.72	0.32119	.	0.560877	0.14341	N	0.325730	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.22276	0.067	B	0.19391	0.025	T	0.46091	-0.9216	9	0.42905	T	0.14	-11.3454	8.8472	0.35177	0.8099:0.1901:0.0:0.0	rs5995794;rs5995794	436	Q8NEG4	FA83F_HUMAN	G	436	ENSP00000330432:R436G	ENSP00000330432:R436G	R	+	1	2	FAM83F	38747766	0.996000	0.38824	0.875000	0.34327	0.027000	0.11550	3.639000	0.54339	0.478000	0.27488	0.374000	0.22700	AGG	A|0.766;G|0.234	0.234	strong		0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		G	40417820	A	G	40417820	3	3	22	1	0	0	0	0	1	0	0	0	5638	179	7	3	1320	3	FAM83F	22	40417820	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	40	40417820	10886746	10968	16076										
MKL1	57591	hgsc.bcm.edu	37	chr22	40814594	40814594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accaccacggacgggggcccCggggccacagcacaagggtc	15	16	0	0	rs56211152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:40814594C>T	ENST00000355630.3	-	12	2438	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	MKL1_ENST00000407029.1_Silent_p.P616P|MKL1_ENST00000402042.1_Silent_p.P566P|MKL1_ENST00000396617.3_Silent_p.P616P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	616	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACGGGGGCCCCGGGGCCACAG	0.716			T	RBM15	acute megakaryocytic leukemia								C|||	1050	0.209665	0.3147	0.1599	5008	,	,		9970	0.0694		0.1581	False		,,,				2504	0.3006				p.P616P		Atlas-SNP	.		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	MKL1	69	.	0			c.G1848A						PASS	.	C		1350,2998		209,932,1033	12	17	15		1848	-9.2	0	22	dbSNP_129	15	1449,7081		140,1169,2956	no	coding-synonymous	MKL1	NM_020831.3		349,2101,3989	TT,TC,CC		16.9871,31.0488,21.7347		616/932	40814594	2799,10079	2174	4265	6439	SO:0001819	synonymous_variant	57591	exon12			GGGCCCCGGGGCC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1848G>A	22.37:g.40814594C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	59	30	0.508475	NM_020831	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	CCDS14003.1																																																																																			C|0.833;T|0.167	0.167	strong		0.716	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40814594	C	T	40814594	2	4	22	1	0	0	0	0	0	0	0	1	9601	639	23	1		1	MKL1	22	40814594	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	396774	40814594	10489972	10969	16077										
MCHR1	2847	hgsc.bcm.edu	37	chr22	41077548	41077548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttttgtggtcatcacagcCgcatacgtgaggatcctgca	10	12	2	1	rs137903389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:41077548C>T	ENST00000249016.4	+	2	1581	c.885C>T	c.(883-885)gcC>gcT	p.A295A	MCHR1_ENST00000381433.2_Silent_p.A169A|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	295					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.A295A(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TCATCACAGCCGCATACGTGA	0.622													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		21982	0.0		0.0	False		,,,				2504	0.0				p.A295A		Atlas-SNP	.											MCHR1,NS,carcinoma,0,1	MCHR1	45	1	1	Substitution - coding silent(1)	pancreas(1)	c.C885T						PASS	.	C		45,4361	46.7+/-81.2	1,43,2159	118	81	94		885	-10.5	0	22	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCHR1	NM_005297.3		1,44,6458	TT,TC,CC		0.0116,1.0213,0.3537		295/423	41077548	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	2847	exon2			CACAGCCGCATAC		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.885C>T	22.37:g.41077548C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_005297	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	CCDS14004.1																																																																																			C|0.997;T|0.003	0.003	strong		0.622	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		T	41077548	C	T	41077548	2	4	22	1	0	0	0	0	0	0	0	1	9382	639	23	1		1	MCHR1	22	41077548	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	262954	41077548	10227018	10970	16078										
POLR3H	171568	hgsc.bcm.edu	37	chr22	41926757	41926757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtggtggcatctgctgagctGggccctgtgggggacgtgtc	19	9	1	1	rs35463585	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:41926757G>A	ENST00000355209.4	-	5	838	c.495C>T	c.(493-495)ccC>ccT	p.P165P	POLR3H_ENST00000407461.1_Silent_p.P165P|POLR3H_ENST00000337566.5_Silent_p.P136P|POLR3H_ENST00000396504.2_Silent_p.P165P|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	165					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CTGCTGAGCTGGGCCCTGTGG	0.607													G|||	130	0.0259585	0.0862	0.0086	5008	,	,		18194	0.0		0.002	False		,,,				2504	0.0082				p.P165P		Atlas-SNP	.											.	POLR3H	30	.	0			c.C495T						PASS	.	G	,,	276,4130	152.5+/-186.2	8,260,1935	98	82	88		495,408,495	4.7	1	22	dbSNP_126	88	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	POLR3H	NM_001018050.2,NM_001018052.2,NM_138338.3	,,	8,267,6228	AA,AG,GG		0.0814,6.2642,2.1759	,,	165/205,136/176,165/205	41926757	283,12723	2203	4300	6503	SO:0001819	synonymous_variant	171568	exon5			TGAGCTGGGCCCT	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"RNA polymerase subunits"	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.495C>T	22.37:g.41926757G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	161	82	0.509317	NM_001018050	B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	CCDS14018.1																																																																																			G|0.976;A|0.024	0.024	strong		0.607	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		A	41926757	G	A	41926757	2	1	22	1	0	0	0	0	0	0	0	1	12236	1335	47	2		2	POLR3H	22	41926757	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	849209	41926757	9377809	10971	16079										
MEI1	150365	hgsc.bcm.edu	37	chr22	42177816	42177816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggctgctcactgcctcCttctctgcccagcagcacaa	8	18	2	0	rs6002481	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42177816C>A	ENST00000401548.3	+	24	3094	c.3054C>A	c.(3052-3054)tcC>tcA	p.S1018S	MEI1_ENST00000300398.4_Silent_p.S26S|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000540880.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.S351S	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCACTGCCTCCTTCTCTGCCC	0.562													C|||	935	0.186701	0.5643	0.1153	5008	,	,		21119	0.0288		0.0209	False		,,,				2504	0.0603				p.S1018S		Atlas-SNP	.											.	MEI1	87	.	0			c.C3054A						PASS	.	C		1837,2289		415,1007,641	44	44	44		3054	-1.4	0.4	22	dbSNP_114	44	224,8252		4,216,4018	no	coding-synonymous	MEI1	NM_152513.3		419,1223,4659	AA,AC,CC		2.6428,44.5225,16.3545		1018/1275	42177816	2061,10541	2063	4238	6301	SO:0001819	synonymous_variant	150365	exon24			TGCCTCCTTCTCT	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3054C>A	22.37:g.42177816C>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	179	85	0.47486	NM_152513		Silent	SNP	ENST00000401548.3	37	CCDS46718.1																																																																																			C|0.832;A|0.168	0.168	strong		0.562	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		A	42177816	C	A	42177816	2	1	22	1	0	0	0	0	0	0	0	1	9465	668	24	4		4	MEI1	22	42177816	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	251059	42177816	9126750	10972	16080										
MEI1	150365	hgsc.bcm.edu	37	chr22	42191540	42191540	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggccctgcatggcttcttCcagcaggtgggtgggaaggg	17	10	1	0	rs6002488	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42191540C>T	ENST00000401548.3	+	29	3700	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	MEI1_ENST00000300398.4_Intron|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.F553F	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATGGCTTCTTCCAGCAGGTGG	0.572													c|||	943	0.188299	0.5681	0.1196	5008	,	,		19801	0.0278		0.0219	False		,,,				2504	0.0603				p.F1220F		Atlas-SNP	.											.	MEI1	87	.	0			c.C3660T						PASS	.	C		1859,2241		425,1009,616	77	79	79		3660	0.7	1	22	dbSNP_114	79	218,8166		4,210,3978	no	coding-synonymous	MEI1	NM_152513.3		429,1219,4594	TT,TC,CC		2.6002,45.3415,16.6373		1220/1275	42191540	2077,10407	2050	4192	6242	SO:0001819	synonymous_variant	150365	exon29			CTTCTTCCAGCAG	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3660C>T	22.37:g.42191540C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_152513		Silent	SNP	ENST00000401548.3	37	CCDS46718.1																																																																																			C|0.830;T|0.170	0.170	strong		0.572	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		T	42191540	C	T	42191540	2	4	22	1	0	0	0	0	0	0	0	1	9465	854	30	2		2	MEI1	22	42191540	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	13724	42191540	9113026	10973	16081										
CCDC134	79879	hgsc.bcm.edu	37	chr22	42209767	42209767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctgcagatggcccaggagCtggggatcagtgagaaagac	15	8	2	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42209767C>T	ENST00000255784.5	+	6	609	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	169						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGCCCAGGAGCTGGGGATCAG	0.532																																					p.L169L		Atlas-SNP	.											.	CCDC134	19	.	0			c.C505T						PASS	.						100	96	97					22																	42209767		2203	4300	6503	SO:0001819	synonymous_variant	79879	exon6			CAGGAGCTGGGGA	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.505C>T	22.37:g.42209767C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_024821		Silent	SNP	ENST00000255784.5	37	CCDS33654.1																																																																																			.	.	none		0.532	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		T	42209767	C	T	42209767	2	4	22	1	0	0	0	0	0	0	0	1	2768	796	28	2		2	CCDC134	22	42209767	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18227	42209767	9094799	10974	16082										
SREBF2	6721	hgsc.bcm.edu	37	chr22	42276742	42276742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agattttgcagctgctgccgGcaacctacaaacctgcctgg	10	13	0	1	rs2228314	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42276742G>C	ENST00000361204.4	+	10	1950	c.1784G>C	c.(1783-1785)gGc>gCc	p.G595A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	595			G -> A (in dbSNP:rs2228314). {ECO:0000269|PubMed:7903453}.		cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGCTGCCGGCAACCTACAA	0.557													C|||	2032	0.405751	0.6165	0.5893	5008	,	,		16039	0.2004		0.2316	False		,,,				2504	0.3814				p.G595A		Atlas-SNP	.											SREBF2,NS,carcinoma,+1,1	SREBF2	99	1	0			c.G1784C						PASS	.	C	ALA/GLY	2515,1891	535.8+/-374.3	739,1037,427	66	76	72		1784	4.9	0.9	22	dbSNP_98	72	2288,6312	697.2+/-404.9	328,1632,2340	yes	missense	SREBF2	NM_004599.2	60	1067,2669,2767	CC,CG,GG		26.6047,42.9187,36.9291	benign	595/1142	42276742	4803,8203	2203	4300	6503	SO:0001583	missense	6721	exon10			CTGCCGGCAACCT	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1784G>C	22.37:g.42276742G>C	ENSP00000354476:p.Gly595Ala	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	225	112	0.497778	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	800	0.3663003663003663	303	0.6158536585365854	197	0.5441988950276243	130	0.22727272727272727	170	0.22427440633245382	C	5.347	0.249403	0.10130	0.570813	0.266047	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.18016	2.24	4.95	4.95	0.65309	.	0.513362	0.22633	N	0.057556	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	9	0.06625	T	0.88	-8.3867	6.5586	0.22474	0.0:0.6932:0.1526:0.1542	rs2228314;rs4822063;rs11547819;rs4822063	595	Q12772	SRBP2_HUMAN	A	595	ENSP00000354476:G595A	ENSP00000354476:G595A	G	+	2	0	SREBF2	40606688	0.687000	0.27671	0.866000	0.34008	0.887000	0.51463	1.148000	0.31614	1.094000	0.41399	-0.345000	0.07892	GGC	G|0.627;C|0.373	0.373	strong		0.557	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		C	42276742	G	C	42276742	3	2	22	1	0	0	0	0	1	0	0	0	15141	1203	42	4	1822	4	SREBF2	22	42276742	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	66975	42276742	9027824	10975	16083										
FAM109B	150368	hgsc.bcm.edu	37	chr22	42473586	42473586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctttgatgcccctggagtgCgcccacacctgctggccgca	12	16	0	1	rs61736039	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42473586C>T	ENST00000321753.3	+	3	476	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCCTGGAGTGCGCCCACACCT	0.662													C|||	111	0.0221645	0.0794	0.0058	5008	,	,		16709	0.0		0.002	False		,,,				2504	0.0				p.R97C		Atlas-SNP	.											.	FAM109B	22	.	0			c.C289T						PASS	.	C	CYS/ARG	356,4050	184.0+/-211.4	14,328,1861	69	73	72		289	4	0.8	22	dbSNP_129	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FAM109B	NM_001002034.2	180	14,330,6159	TT,TC,CC		0.0233,8.0799,2.7526	probably-damaging	97/260	42473586	358,12648	2203	4300	6503	SO:0001583	missense	150368	exon3			GGAGTGCGCCCAC	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.289C>T	22.37:g.42473586C>T	ENSP00000312753:p.Arg97Cys	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	129	60	0.465116	NM_001002034	Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	CCDS33655.1	33	0.01510989010989011	32	0.06504065040650407	1	0.0027624309392265192	0	0.0	0	0.0	C	14.36	2.512399	0.44660	0.080799	2.33E-4	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.76839	-1.05;-1.05	5.01	3.95	0.45737	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211920	0.38492	N	0.001667	T	0.33206	0.0855	M	0.83012	2.62	0.51012	D	0.999905	D	0.76494	0.999	P	0.61201	0.885	T	0.69738	-0.5064	10	0.66056	D	0.02	-12.5019	13.5179	0.61551	0.2769:0.7231:0.0:0.0	rs61736039	97	Q6ICB4	SESQ2_HUMAN	C	97	ENSP00000312753:R97C;ENSP00000396170:R97C	ENSP00000312753:R97C	R	+	1	0	FAM109B	40803532	1.000000	0.71417	0.758000	0.31321	0.031000	0.12232	3.245000	0.51407	2.299000	0.77371	0.655000	0.94253	CGC	C|0.975;T|0.025	0.025	strong		0.662	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		T	42473586	C	T	42473586	3	4	22	1	0	0	0	0	1	0	0	0	5395	768	27	1	291	1	FAM109B	22	42473586	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	196844	42473586	8830980	10976	16084										
TCF20	6942	hgsc.bcm.edu	37	chr22	42610099	42610099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aattctgtttctggaacccaTaggcacactgccttgcccac	7	14	2	0	rs34030679	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42610099T>C	ENST00000359486.3	-	1	1349	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	TCF20_ENST00000335626.4_Missense_Mutation_p.M405V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	405			M -> V (in dbSNP:rs34030679).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGAACCCATAGGCACACTG	0.502													T|||	431	0.0860623	0.1324	0.062	5008	,	,		21046	0.0308		0.0815	False		,,,				2504	0.1022				p.M405V		Atlas-SNP	.											.	TCF20	164	.	0			c.A1213G						PASS	.	T	VAL/MET,VAL/MET	607,3799	264.7+/-266.2	45,517,1641	131	129	130		1213,1213	3.7	1	22	dbSNP_126	130	788,7812	186.4+/-233.9	41,706,3553	yes	missense,missense	TCF20	NM_005650.1,NM_181492.1	21,21	86,1223,5194	CC,CT,TT		9.1628,13.7767,10.7258	benign,benign	405/1961,405/1939	42610099	1395,11611	2203	4300	6503	SO:0001583	missense	6942	exon1			AACCCATAGGCAC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1213A>G	22.37:g.42610099T>C	ENSP00000352463:p.Met405Val	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	164	88	0.536585	NM_181492	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	161	0.07371794871794872	67	0.13617886178861788	26	0.0718232044198895	12	0.02097902097902098	56	0.07387862796833773	T	0.009	-1.837371	0.00573	0.137767	0.091628	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.30448	1.53;1.53	5.95	3.74	0.42951	.	0.186652	0.48767	N	0.000178	T	0.00144	0.0004	L	0.40543	1.245	0.09310	P	0.9999999999668289	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20306	-1.0279	9	0.02654	T	1	-1.6351	5.6675	0.17702	0.0:0.1404:0.2615:0.5981	rs34030679	405;405	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	405	ENSP00000352463:M405V;ENSP00000335561:M405V	ENSP00000335561:M405V	M	-	1	0	TCF20	40940043	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.197000	0.32211	1.084000	0.41184	0.533000	0.62120	ATG	T|0.901;C|0.099	0.099	strong		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		C	42610099	T	C	42610099	3	2	22	1	0	0	0	0	1	0	0	0	15687	1406	49	2	4707	2	TCF20	22	42610099	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	136513	42610099	8694467	10977	16085										
NFAM1	150372	hgsc.bcm.edu	37	chr22	42783070	42783070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcatagacctcggtctcGcggcgctgcagagcctacag	13	14	1	2	rs34963472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42783070G>A	ENST00000329021.5	-	5	715	c.678C>T	c.(676-678)cgC>cgT	p.R226R		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	226	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						CCTCGGTCTCGCGGCGCTGCA	0.657													G|||	438	0.0874601	0.0666	0.183	5008	,	,		18323	0.001		0.1402	False		,,,				2504	0.0828				p.R226R		Atlas-SNP	.											.	NFAM1	12	.	0			c.C678T						PASS	.	G		389,4017	195.0+/-219.7	13,363,1827	84	77	79		678	-7.3	0	22	dbSNP_126	79	1282,7318	253.3+/-279.0	91,1100,3109	no	coding-synonymous	NFAM1	NM_145912.5		104,1463,4936	AA,AG,GG		14.907,8.8289,12.8479		226/271	42783070	1671,11335	2203	4300	6503	SO:0001819	synonymous_variant	150372	exon5			GGTCTCGCGGCGC	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.678C>T	22.37:g.42783070G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	61	37	0.606557	NM_145912	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Silent	SNP	ENST00000329021.5	37	CCDS14034.1																																																																																			G|0.880;A|0.120	0.120	strong		0.657	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		A	42783070	G	A	42783070	2	1	22	1	0	0	0	0	0	0	0	1	10358	1074	38	1		1	NFAM1	22	42783070	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	172971	42783070	8521496	10978	16086										
NFAM1	150372	hgsc.bcm.edu	37	chr22	42793873	42793873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggactcactgtgtagacAgattctgaaggatgctgctt	12	9	2	3	rs5996153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42793873A>G	ENST00000329021.5	-	4	691	c.654T>C	c.(652-654)tcT>tcC	p.S218S		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	218	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						CTGTGTAGACAGATTCTGAAG	0.597													G|||	645	0.128794	0.2126	0.1988	5008	,	,		16255	0.001		0.1431	False		,,,				2504	0.0828				p.S218S		Atlas-SNP	.											.	NFAM1	12	.	0			c.T654C						PASS	.	G		951,3455	736.1+/-410.7	110,731,1362	103	99	100		654	-4.4	0	22	dbSNP_114	100	1337,7263	757.1+/-407.5	97,1143,3060	no	coding-synonymous	NFAM1	NM_145912.5		207,1874,4422	GG,GA,AA		15.5465,21.5842,17.5919		218/271	42793873	2288,10718	2203	4300	6503	SO:0001819	synonymous_variant	150372	exon4			GTAGACAGATTCT	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.654T>C	22.37:g.42793873A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_145912	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Silent	SNP	ENST00000329021.5	37	CCDS14034.1																																																																																			A|0.848;G|0.152	0.152	strong		0.597	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		G	42793873	A	G	42793873	2	3	22	1	0	0	0	0	0	0	0	1	10358	175	7	3		3	NFAM1	22	42793873	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10803	42793873	8510693	10979	16087										
NFAM1	150372	hgsc.bcm.edu	37	chr22	42805444	42805444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagcactgatcccgtaccttGttccagagcagcagggccgt	12	13	0	2	rs17003048	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42805444G>C	ENST00000329021.5	-	3	598	c.561C>G	c.(559-561)aaC>aaG	p.N187K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	187			N -> K (in dbSNP:rs17003048).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						CCCGTACCTTGTTCCAGAGCA	0.662													C|||	158	0.0315495	0.1157	0.0058	5008	,	,		16803	0.0		0.001	False		,,,				2504	0.0				p.N187K		Atlas-SNP	.											.	NFAM1	12	.	0			c.C561G						PASS	.	C	LYS/ASN	450,3956	785.4+/-414.7	22,406,1775	102	96	98		561	4.8	1	22	dbSNP_123	98	3,8597	818.9+/-406.8	0,3,4297	yes	missense	NFAM1	NM_145912.5	94	22,409,6072	CC,CG,GG		0.0349,10.2133,3.483	benign	187/271	42805444	453,12553	2203	4300	6503	SO:0001583	missense	150372	exon3			TACCTTGTTCCAG	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.561C>G	22.37:g.42805444G>C	ENSP00000333680:p.Asn187Lys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_145912	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	CCDS14034.1	55	0.025183150183150184	53	0.10772357723577236	2	0.0055248618784530384	0	0.0	0	0.0	C	0.145	-1.097589	0.01843	0.102133	3.49E-4	ENSG00000235568	ENST00000329021	T	0.18174	2.23	4.8	4.8	0.61643	.	0.000000	0.46145	N	0.000311	T	0.00073	0.0002	N	0.00159	-1.955	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.39354	-0.9618	10	0.02654	T	1	-15.1863	11.2161	0.48827	0.0:0.8139:0.1861:0.0	rs17003048;rs17003048	187	Q8NET5	NFAM1_HUMAN	K	187	ENSP00000333680:N187K	ENSP00000333680:N187K	N	-	3	2	NFAM1	41135388	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	1.335000	0.33839	1.036000	0.39998	-0.322000	0.08575	AAC	G|0.962;C|0.038	0.038	strong		0.662	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		C	42805444	G	C	42805444	3	2	22	1	0	0	0	0	1	0	0	0	10358	1368	48	4	267	4	NFAM1	22	42805444	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	11571	42805444	8499122	10980	16088										
RRP7A	27341	hgsc.bcm.edu	37	chr22	42908976	42908976	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctctgcttgtcctcctcGaacttcttgcgcagctgcgc	8	16	2	0	rs145348367	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42908976G>A	ENST00000323013.6	-	7	798	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	261							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F261F(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TGTCCTCCTCGAACTTCTTGC	0.662																																					p.F261F		Atlas-SNP	.											RRP7A,NS,carcinoma,0,2	RRP7A	25	2	1	Substitution - coding silent(1)	skin(1)	c.C783T						PASS	.						47	39	42					22																	42908976		2203	4299	6502	SO:0001819	synonymous_variant	27341	exon7			CTCCTCGAACTTC	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.783C>T	22.37:g.42908976G>A		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	228	26	0.114035	NM_015703	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																			G|0.983;A|0.017	0.017	strong		0.662	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		A	42908976	G	A	42908976	2	1	22	1	0	0	0	0	0	0	0	1	13689	1049	37	1		1	RRP7A	22	42908976	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	103532	42908976	8395590	10981	16089										
RRP7A	27341	hgsc.bcm.edu	37	chr22	42910142	42910142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctctcgatgctgccaggCgtagaagttgagcagctctt	12	11	2	2	rs61731241	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:42910142C>T	ENST00000323013.6	-	6	742	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	243							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TGCTGCCAGGCGTAGAAGTTG	0.667													C|||	247	0.0493211	0.1793	0.013	5008	,	,		21135	0.0		0.001	False		,,,				2504	0.0				p.A243T		Atlas-SNP	.											.	RRP7A	25	.	0			c.G727A						PASS	.	C	THR/ALA	589,3817		31,527,1645	53	36	42		727	3.7	0.9	22	dbSNP_129	42	18,8582		0,18,4282	yes	missense	RRP7A	NM_015703.4	58	31,545,5927	TT,TC,CC		0.2093,13.3681,4.6671	benign	243/281	42910142	607,12399	2203	4300	6503	SO:0001583	missense	27341	exon6			GCCAGGCGTAGAA	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.727G>A	22.37:g.42910142C>T	ENSP00000321449:p.Ala243Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_015703	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	CCDS14036.1	84	0.038461538461538464	78	0.15853658536585366	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	.	6.304	0.424130	0.11928	0.133681	0.002093	ENSG00000189306	ENST00000323013	T	0.22539	1.95	3.66	3.66	0.41972	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.164932	0.53938	D	0.000046	T	0.00039	0.0001	N	0.03999	-0.3	0.21967	P	0.999444231	P;B	0.45396	0.857;0.364	B;B	0.35510	0.204;0.121	T	0.42292	-0.9460	9	0.16420	T	0.52	-28.9794	15.7164	0.77672	0.0:1.0:0.0:0.0	.	243;66	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	T	243	ENSP00000321449:A243T	ENSP00000321449:A243T	A	-	1	0	RRP7A	41240086	0.995000	0.38212	0.922000	0.36590	0.018000	0.09664	3.198000	0.51035	1.747000	0.51819	0.205000	0.17691	GCC	C|0.958;T|0.042	0.042	strong		0.667	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		T	42910142	C	T	42910142	3	4	22	1	0	0	0	0	1	0	0	0	13689	768	27	1	123	1	RRP7A	22	42910142	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1166	42910142	8394424	10982	16090										
ARFGAP3	26286	hgsc.bcm.edu	37	chr22	43195134	43195134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaactgcgccatgtcgggggCgttgggcagcacactggaca	16	11	0	0	rs36003980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:43195134C>T	ENST00000263245.5	-	15	1663	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.A410T|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.A438T	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	482			A -> T (in dbSNP:rs36003980).		intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATGTCGGGGGCGTTGGGCAGC	0.562													C|||	80	0.0159744	0.0575	0.0043	5008	,	,		17224	0.0		0.001	False		,,,				2504	0.0				p.A482T	GBM(58;544 1030 21460 27159 48838)	Atlas-SNP	.											.	ARFGAP3	48	.	0			c.G1444A						PASS	.	C	THR/ALA,THR/ALA	192,4214	120.8+/-158.4	4,184,2015	144	126	132		1312,1444	3.6	0.4	22	dbSNP_126	132	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ARFGAP3	NM_001142293.1,NM_014570.4	58,58	4,187,6312	TT,TC,CC		0.0349,4.3577,1.4993	benign,benign	438/473,482/517	43195134	195,12811	2203	4300	6503	SO:0001583	missense	26286	exon15			CGGGGGCGTTGGG	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1444G>A	22.37:g.43195134C>T	ENSP00000263245:p.Ala482Thr	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	76	43	0.565789	NM_014570	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	27	0.012362637362637362	27	0.054878048780487805	0	0.0	0	0.0	0	0.0	C	11.57	1.678342	0.29783	0.043577	3.49E-4	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119	T;T;T	0.07021	3.4;3.23;3.35	4.65	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	L	0.48260	1.515	0.53005	D	0.999964	B;B	0.33212	0.066;0.402	B;B	0.20184	0.028;0.027	T	0.31943	-0.9925	10	0.51188	T	0.08	0.0519	11.8638	0.52482	0.0:0.9119:0.0:0.0881	rs36003980	438;482	E9PB03;Q9NP61	.;ARFG3_HUMAN	T	482;410;438	ENSP00000263245:A482T;ENSP00000393959:A410T;ENSP00000388791:A438T	ENSP00000263245:A482T	A	-	1	0	ARFGAP3	41525078	1.000000	0.71417	0.437000	0.26809	0.135000	0.20990	4.958000	0.63660	0.951000	0.37770	-0.137000	0.14449	GCC	C|0.983;T|0.017	0.017	strong		0.562	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		T	43195134	C	T	43195134	3	4	22	1	0	0	0	0	1	0	0	0	851	768	27	1	114	1	ARFGAP3	22	43195134	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	284992	43195134	8109432	10983	16091										
TTLL1	25809	hgsc.bcm.edu	37	chr22	43455432	43455432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acgatgatccagtggatctcGtcgaacagcttgctggtcac	11	11	2	1	rs5759125	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:43455432G>A	ENST00000266254.7	-	8	1089	c.849C>T	c.(847-849)gaC>gaT	p.D283D	TTLL1_ENST00000331018.7_Silent_p.D283D	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	283	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGTGGATCTCGTCGAACAGCT	0.642													G|||	1998	0.398962	0.4977	0.3141	5008	,	,		16415	0.7173		0.1064	False		,,,				2504	0.2986				p.D283D		Atlas-SNP	.											TTLL1,NS,carcinoma,0,1	TTLL1	41	1	0			c.C849T						PASS	.	G		1891,2515	541.3+/-375.7	411,1069,723	99	80	86		849	-2.6	1	22	dbSNP_114	86	921,7679	205.1+/-247.6	50,821,3429	no	coding-synonymous	TTLL1	NM_012263.4		461,1890,4152	AA,AG,GG		10.7093,42.9187,21.6208		283/424	43455432	2812,10194	2203	4300	6503	SO:0001819	synonymous_variant	25809	exon8			GATCTCGTCGAAC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.849C>T	22.37:g.43455432G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	109	45	0.412844	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	782	0.35805860805860806	218	0.44308943089430897	104	0.287292817679558	391	0.6835664335664335	69	0.09102902374670185	G	10.57	1.387949	0.25118	0.429187	0.107093	ENSG00000100271	ENST00000495814	.	.	.	5.48	-2.61	0.06171	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999984994	.	.	.	.	.	.	T	0.40194	-0.9576	3	.	.	.	.	5.4795	0.16715	0.5278:0.2927:0.1795:0.0	rs5759125;rs61106588;rs5759125	.	.	.	M	209	.	.	T	-	2	0	TTLL1	41785376	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	1.739000	0.38217	-0.226000	0.09899	0.561000	0.74099	ACG	G|0.704;A|0.296	0.296	strong		0.642	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		A	43455432	G	A	43455432	2	1	22	1	0	0	0	0	0	0	0	1	16719	1136	40	1		1	TTLL1	22	43455432	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	260298	43455432	7849134	10984	16092										
TSPO	706	hgsc.bcm.edu	37	chr22	43558972	43558972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgggacaaccatggctggcGtgggggacggcggctgccag	20	11	0	0	rs41371752|rs6972	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:43558972G>A	ENST00000396265.3	+	3	379	c.204G>A	c.(202-204)gcG>gcA	p.A68A	TSPO_ENST00000583777.1_Missense_Mutation_p.R58H|TSPO_ENST00000337554.3_Missense_Mutation_p.R162H|TSPO_ENST00000329563.4_Missense_Mutation_p.R162H			B1AH88	TSPOB_HUMAN	translocator protein (18kDa)	68					adrenal gland development (GO:0030325)|aging (GO:0007568)|behavioral response to pain (GO:0048266)|cellular hypotonic response (GO:0071476)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to zinc ion (GO:0071294)|chloride transport (GO:0006821)|contact inhibition (GO:0060242)|glial cell migration (GO:0008347)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of steroid biosynthetic process (GO:0050810)|response to drug (GO:0042493)|response to manganese ion (GO:0010042)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to vitamin B1 (GO:0010266)|steroid biosynthetic process (GO:0006694)	mitochondrial outer membrane (GO:0005741)	androgen binding (GO:0005497)|benzodiazepine receptor activity (GO:0008503)			endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				CATGGCTGGCGTGGGGGACGG	0.672													G|||	1015	0.202676	0.0552	0.1556	5008	,	,		13994	0.2411		0.2575	False		,,,				2504	0.3395				p.R162H		Atlas-SNP	.											.	TSPO	6	.	0			c.G485A	GRCh37	CM060884	TSPO	M	rs6972	PASS	.	G	HIS/ARG,	373,3999		16,341,1829	27	21	23		485,204	3.3	0	22	dbSNP_52	23	2008,6552		244,1520,2516	yes	missense,coding-synonymous	TSPO	NM_000714.4,NM_007311.3	29,	260,1861,4345	AA,AG,GG		23.4579,8.5316,18.4117	benign,	162/170,68/103	43558972	2381,10551	2186	4280	6466	SO:0001819	synonymous_variant	706	exon4			GCTGGCGTGGGGG	AF075589	CCDS33661.1	22q13.3	2006-07-12	2006-07-12	2006-07-12	ENSG00000100300	ENSG00000100300			1158	protein-coding gene	gene with protein product	"peripheral-type benzodiazepine receptor/recognition site"	109610	"benzodiazapine receptor (peripheral)"	BZRP		1326278, 1847678, 16822554	Standard	NM_000714		Approved	PBR, MBR, PKBS, mDRC, DBI, IBP, pk18	uc003bdo.4	B1AH88	OTTHUMG00000150573	ENST00000396265.3:c.204G>A	22.37:g.43558972G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001256531	Q13849|Q6IAZ7	Missense_Mutation	SNP	ENST00000396265.3	37		443	0.20283882783882784	39	0.07926829268292683	59	0.16298342541436464	131	0.229020979020979	214	0.28232189973614774	G	11.96	1.794907	0.31777	0.085316	0.234579	ENSG00000100300	ENST00000337554;ENST00000329563	T;T	0.23950	1.88;1.88	4.38	3.33	0.38152	.	0.339156	0.29192	N	0.012880	T	0.00012	0.0000	L	0.54323	1.7	0.51233	P	8.699999999994823E-5	B	0.16802	0.019	B	0.09377	0.004	T	0.27054	-1.0085	9	0.38643	T	0.18	-12.9691	12.1528	0.54059	0.0:0.1743:0.8257:0.0	rs6972;rs3171720;rs17844888;rs17857605;rs6972	162	P30536	TSPOA_HUMAN	H	162	ENSP00000338004:R162H;ENSP00000328973:R162H	ENSP00000328973:R162H	R	+	2	0	TSPO	41888916	0.386000	0.25180	0.025000	0.17156	0.073000	0.16967	2.623000	0.46435	1.147000	0.42369	0.655000	0.94253	CGT	G|0.812;A|0.188	0.188	strong		0.672	TSPO-201	KNOWN	basic	protein_coding	protein_coding		NM_007311		A	43558972	G	A	43558972	2	1	22	1	0	0	0	0	0	0	0	1	16652	1145	40	1		1	TSPO	22	43558972	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	103540	43558972	7745594	10985	16093										
TTLL12	23170	hgsc.bcm.edu	37	chr22	43568512	43568512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcgaacttgacctttcccaCgtcttctcgaaggaacaaca	7	13	2	1	rs34074034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:43568512C>T	ENST00000216129.6	-	10	1453	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	464	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.		V -> M (in dbSNP:rs34074034).		cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACCTTTCCCACGTCTTCTCGA	0.572													C|||	1014	0.202476	0.0598	0.1643	5008	,	,		16640	0.2351		0.2465	False		,,,				2504	0.3436				p.V464M		Atlas-SNP	.											.	TTLL12	50	.	0			c.G1390A						PASS	.	C	MET/VAL	385,4021	193.6+/-218.7	16,353,1834	209	150	170		1390	5.3	1	22	dbSNP_126	170	2043,6557	356.5+/-330.3	249,1545,2506	yes	missense	TTLL12	NM_015140.3	21	265,1898,4340	TT,TC,CC		23.7558,8.7381,18.6683	probably-damaging	464/645	43568512	2428,10578	2203	4300	6503	SO:0001583	missense	23170	exon10			TTCCCACGTCTTC	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1390G>A	22.37:g.43568512C>T	ENSP00000216129:p.Val464Met	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	178	82	0.460674	NM_015140	Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	CCDS14047.1	436	0.19963369963369965	39	0.07926829268292683	67	0.1850828729281768	132	0.23076923076923078	198	0.2612137203166227	C	22.3	4.264974	0.80358	0.087381	0.237558	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.08193	3.12	5.31	5.31	0.75309	.	0.059184	0.64402	D	0.000002	T	0.00012	0.0000	M	0.82323	2.585	0.09310	P	0.9999999844361	D;D	0.76494	0.999;0.999	D;D	0.75484	0.971;0.986	T	0.00883	-1.1528	9	0.87932	D	0	-21.7077	18.9677	0.92702	0.0:1.0:0.0:0.0	rs34074034;rs60598679	464;464	B1AH89;Q14166	.;TTL12_HUMAN	M	464	ENSP00000216129:V464M	ENSP00000216129:V464M	V	-	1	0	TTLL12	41898456	1.000000	0.71417	0.985000	0.45067	0.367000	0.29736	5.546000	0.67243	2.466000	0.83321	0.561000	0.74099	GTG	C|0.803;G|0.000;T|0.197	0.197	strong		0.572	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		T	43568512	C	T	43568512	3	4	22	1	0	0	0	0	1	0	0	0	16722	536	19	1	564	1	TTLL12	22	43568512	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9540	43568512	7736054	10986	16094										
SCUBE1	80274	hgsc.bcm.edu	37	chr22	43614316	43614316	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catgccccctgcccctccagCgccttggctggcctctgggc	11	20	1	0	rs9620123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:43614316C>G	ENST00000360835.4	-	15	1962	c.1836G>C	c.(1834-1836)gcG>gcC	p.A612A		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	612					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCCCTCCAGCGCCTTGGCTG	0.632													G|||	1907	0.380791	0.559	0.17	5008	,	,		19957	0.5268		0.1879	False		,,,				2504	0.3374				p.A612A		Atlas-SNP	.											.	SCUBE1	105	.	0			c.G1836C						PASS	.	G		2170,2236	587.7+/-386.8	527,1116,560	92	91	91		1836	-2	0.1	22	dbSNP_119	91	1277,7323	756.1+/-407.5	96,1085,3119	no	coding-synonymous	SCUBE1	NM_173050.3		623,2201,3679	GG,GC,CC		14.8488,49.251,26.5032		612/989	43614316	3447,9559	2203	4300	6503	SO:0001819	synonymous_variant	80274	exon15			CTCCAGCGCCTTG		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1836G>C	22.37:g.43614316C>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	80	41	0.5125	NM_173050	Q5R336	Silent	SNP	ENST00000360835.4	37	CCDS14048.1																																																																																			C|0.719;G|0.281	0.281	strong		0.632	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		G	43614316	C	G	43614316	2	3	22	1	0	0	0	0	0	0	0	1	13944	755	27	4		4	SCUBE1	22	43614316	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	45804	43614316	7690250	10987	16095										
PNPLA5	150379	hgsc.bcm.edu	37	chr22	44287062	44287062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcgtcggggggcagagcAtcctgcagctgctgcttgac	17	11	0	2	rs2071884	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44287062A>G	ENST00000597664.1	-	2	435	c.306T>C	c.(304-306)gaT>gaC	p.D102D	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000216177.4_Silent_p.D102D			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	102	Patatin.				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)				GGGGCAGAGCATCCTGCAGCT	0.667													G|||	1773	0.354034	0.2027	0.3242	5008	,	,		14974	0.4335		0.3877	False		,,,				2504	0.4632				p.D102D		Atlas-SNP	.											PNPLA5,NS,carcinoma,0,3	PNPLA5	46	3	0			c.T306C						PASS	.	G	,	1103,3301	695.5+/-405.9	142,819,1241	37	33	34		,306	-0.3	0	22	dbSNP_96	34	3271,5329	628.6+/-398.1	610,2051,1639	no	intron,coding-synonymous	PNPLA5	NM_001177675.1,NM_138814.3	,	752,2870,2880	GG,GA,AA		38.0349,25.0454,33.6358	,	,102/430	44287062	4374,8630	2202	4300	6502	SO:0001819	synonymous_variant	150379	exon2			CAGAGCATCCTGC	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.306T>C	22.37:g.44287062A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	214	109	0.509346	NM_138814	B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	37																																																																																				A|0.657;G|0.343	0.343	strong		0.667	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		G	44287062	A	G	44287062	2	3	22	1	0	0	0	0	0	0	0	1	12168	214	8	2		2	PNPLA5	22	44287062	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	672746	44287062	7017504	10988	16096										
PNPLA3	80339	hgsc.bcm.edu	37	chr22	44322922	44322922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttcctccgacagggtctcTgcaaatgcctcccggccaat	9	15	1	0	rs2076213	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44322922T>G	ENST00000216180.3	+	2	468	c.295T>G	c.(295-297)Tgc>Ggc	p.C99G	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.C95G	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	99	Patatin.		C -> G (in dbSNP:rs2076213). {ECO:0000269|PubMed:15489334}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ACAGGGTCTCTGCAAATGCCT	0.522													T|||	362	0.0722843	0.0393	0.1628	5008	,	,		20589	0.0268		0.0855	False		,,,				2504	0.0859				p.C99G		Atlas-SNP	.											.	PNPLA3	53	.	0			c.T295G						PASS	.	T	GLY/CYS	203,4203	126.6+/-163.6	3,197,2003	91	79	83		295	-2.1	0	22	dbSNP_96	83	838,7762	192.3+/-238.3	38,762,3500	yes	missense	PNPLA3	NM_025225.2	159	41,959,5503	GG,GT,TT		9.7442,4.6074,8.004	benign	99/482	44322922	1041,11965	2203	4300	6503	SO:0001583	missense	80339	exon2			GGTCTCTGCAAAT		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.295T>G	22.37:g.44322922T>G	ENSP00000216180:p.Cys99Gly	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	150	84	0.56	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	166	0.076007326007326	21	0.042682926829268296	61	0.1685082872928177	19	0.033216783216783216	65	0.08575197889182058	T	7.556	0.663724	0.14710	0.046074	0.097442	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.78816	-1.21;-0.99	5.68	-2.13	0.07144	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.465370	0.03714	N	0.250817	T	0.00144	0.0004	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03306	-1.1050	9	0.25751	T	0.34	-1.4464	0.6504	0.00826	0.2984:0.2845:0.1077:0.3094	rs2076213;rs17493955;rs17855951;rs57129774;rs2076213	99	Q9NST1	PLPL3_HUMAN	G	99;95	ENSP00000216180:C99G;ENSP00000397987:C95G	ENSP00000216180:C99G	C	+	1	0	PNPLA3	42654255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	0.008000	0.14787	-0.263000	0.10527	TGC	T|0.924;G|0.076;C|0.000	0.076	strong		0.522	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		G	44322922	T	G	44322922	3	3	22	1	0	0	0	0	1	0	0	0	12166	1580	55	5	301	5	PNPLA3	22	44322922	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	35860	44322922	6981644	10989	16097										
PNPLA3	80339	hgsc.bcm.edu	37	chr22	44324727	44324727	+	Missense_Mutation	SNP	C	C	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggtatgttcctgcttcatCcccttctacagtggccttat					rs738409	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44324727C>G	ENST00000216180.3	+	3	617	c.444C>G	c.(442-444)atC>atG	p.I148M	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.I144M	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	148	Patatin.		I -> M (common polymorphism; fails to hydrolyze emulsified triglycerides; associated with increased hepatic fat content and serum aspartate aminotransferase concentrations; dbSNP:rs738409). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18728122, ECO:0000269|PubMed:18820647, ECO:0000269|PubMed:19224197, ECO:0000269|PubMed:19738004}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.I148M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCTGCTTCATCCCCTTCTACA	0.507													C|||	1313	0.262181	0.118	0.4841	5008	,	,		20458	0.3502		0.2256	False		,,,				2504	0.2464				p.I148M		Atlas-SNP	.											PNPLA3,NS,carcinoma,0,1	PNPLA3	53	1	1	Substitution - Missense(1)	stomach(1)	c.C444G	GRCh37	CM086892	PNPLA3	M	rs738409	PASS	.	C	MET/ILE	639,3767	274.9+/-272.2	58,523,1622	311	260	277	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	444	-2	0.3	22	dbSNP_86	277	1901,6699	335.0+/-321.2	208,1485,2607	yes	missense	PNPLA3	NM_025225.2	10	266,2008,4229	GG,GC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	22.1047,14.503,19.5294	probably-damaging	148/482	44324727	2540,10466	2203	4300	6503	SO:0001583	missense	80339	exon3			CTTCATCCCCTTC		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.444C>G	22.37:g.44324727C>G	ENSP00000216180:p.Ile148Met	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	170	76	0.447059	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	622	0.2847985347985348	59	0.11991869918699187	164	0.4530386740331492	235	0.41083916083916083	164	0.21635883905013192	C	12.12	1.841297	0.32513	0.14503	0.221047	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.80738	-1.41;-1.41	5.7	-1.97	0.07503	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.316000	0.28156	N	0.016391	T	0.00012	0.0000	M	0.92026	3.265	0.21355	P	0.999710835	D	0.64830	0.994	D	0.66497	0.944	T	0.20107	-1.0285	9	0.62326	D	0.03	-21.2182	6.3831	0.21546	0.0:0.4064:0.2195:0.3741	rs738409;rs3747205;rs17855952;rs738409	148	Q9NST1	PLPL3_HUMAN	M	148;144	ENSP00000216180:I148M;ENSP00000397987:I144M	ENSP00000216180:I148M	I	+	3	3	PNPLA3	42656060	0.058000	0.20735	0.289000	0.24876	0.080000	0.17528	-0.914000	0.04038	-0.125000	0.11703	-0.136000	0.14681	ATC	C|0.774;G|0.226	0.226	strong		0.507	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		G	44324727	C	G	44324727	3	3	22	1	0	0	0	0	1	0	0	0	12166	845	30	4	454	4	PNPLA3	22	44324727	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1805	44324727	6979839	10990	16098	344	2								
PNPLA3	80339	hgsc.bcm.edu	37	chr22	44324730	44324730	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtatgttcctgcttcatcccCttctacagtggccttatccc					rs738408	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44324730C>T	ENST00000216180.3	+	3	620	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PNPLA3_ENST00000423180.2_Silent_p.P145P|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	149	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.P149P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GCTTCATCCCCTTCTACAGTG	0.502													T|||	1313	0.262181	0.118	0.4841	5008	,	,		20434	0.3502		0.2256	False		,,,				2504	0.2464				p.P149P		Atlas-SNP	.											PNPLA3,NS,carcinoma,0,1	PNPLA3	53	1	1	Substitution - coding silent(1)	stomach(1)	c.C447T						PASS	.	T		637,3769	764.4+/-413.3	57,523,1623	303	254	271		447	-4.8	0	22	dbSNP_86	271	1890,6710	723.2+/-406.4	208,1474,2618	no	coding-synonymous	PNPLA3	NM_025225.2		265,1997,4241	TT,TC,CC		21.9767,14.4576,19.4295		149/482	44324730	2527,10479	2203	4300	6503	SO:0001819	synonymous_variant	80339	exon3			CATCCCCTTCTAC		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.447C>T	22.37:g.44324730C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	171	77	0.450292	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	CCDS14054.1																																																																																			C|0.802;T|0.198	0.198	strong		0.502	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		T	44324730	C	T	44324730	2	4	22	1	0	0	0	0	0	0	0	1	12166	668	24	2		2	PNPLA3	22	44324730	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	44324730	6979836	10991	16099	344	2								
SAMM50	25813	hgsc.bcm.edu	37	chr22	44368122	44368122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttttttatttaggtgatgAcgcacttccaaatgggttag	9	5	0	2	rs3761472	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44368122A>G	ENST00000350028.4	+	5	486	c.329A>G	c.(328-330)gAc>gGc	p.D110G	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	110			D -> G (in dbSNP:rs3761472). {ECO:0000269|PubMed:14702039}.		cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.D110G(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTAGGTGATGACGCACTTCCA	0.363													A|||	1223	0.244209	0.171	0.2968	5008	,	,		17374	0.371		0.1879	False		,,,				2504	0.2331				p.D110G		Atlas-SNP	.											SAMM50,NS,carcinoma,0,1	SAMM50	30	1	1	Substitution - Missense(1)	stomach(1)	c.A329G						PASS	.	A	GLY/ASP	786,3620	318.5+/-295.7	88,610,1505	123	113	116		329	4.8	0.9	22	dbSNP_107	116	1339,7261	263.0+/-284.7	107,1125,3068	yes	missense	SAMM50	NM_015380.4	94	195,1735,4573	GG,GA,AA		15.5698,17.8393,16.3386	benign	110/470	44368122	2125,10881	2203	4300	6503	SO:0001583	missense	25813	exon5			GTGATGACGCACT	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.329A>G	22.37:g.44368122A>G	ENSP00000345445:p.Asp110Gly	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	58	31	0.534483	NM_015380	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	CCDS14055.1	554	0.25366300366300365	86	0.17479674796747968	96	0.26519337016574585	232	0.40559440559440557	140	0.18469656992084432	A	14.99	2.701189	0.48307	0.178393	0.155698	ENSG00000100347	ENST00000350028	T	0.54279	0.58	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.53249	1.67	0.09310	P	1.0	B	0.14438	0.01	B	0.17722	0.019	T	0.33574	-0.9863	9	0.48119	T	0.1	-28.447	13.7811	0.63084	1.0:0.0:0.0:0.0	rs3761472;rs11547246;rs52828379;rs57886466;rs3761472	110	Q9Y512	SAM50_HUMAN	G	110	ENSP00000345445:D110G	ENSP00000345445:D110G	D	+	2	0	SAMM50	42699455	0.998000	0.40836	0.898000	0.35279	0.991000	0.79684	3.639000	0.54339	1.916000	0.55485	0.533000	0.62120	GAC	A|0.790;G|0.210	0.210	strong		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		G	44368122	A	G	44368122	3	3	22	1	0	0	0	0	1	0	0	0	13829	275	10	2	347	2	SAMM50	22	44368122	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	43392	44368122	6936444	10992	16100										
SAMM50	25813	hgsc.bcm.edu	37	chr22	44386281	44386281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccatgggagtacagacaggCgacaggtacgtgttgggaat	15	8	0	1	rs7587	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44386281C>T	ENST00000350028.4	+	14	1516	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G	SAMM50_ENST00000396202.3_Silent_p.G243G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	453					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TACAGACAGGCGACAGGTACG	0.478													C|||	1116	0.222843	0.1604	0.1657	5008	,	,		17728	0.3621		0.2068	False		,,,				2504	0.2209				p.G453G		Atlas-SNP	.											.	SAMM50	30	.	0			c.C1359T						PASS	.	C		754,3652	307.2+/-289.9	67,620,1516	138	104	115		1359	-9.7	0	22	dbSNP_52	115	1906,6694	338.2+/-322.6	219,1468,2613	no	coding-synonymous	SAMM50	NM_015380.4		286,2088,4129	TT,TC,CC		22.1628,17.113,20.4521		453/470	44386281	2660,10346	2203	4300	6503	SO:0001819	synonymous_variant	25813	exon14			GACAGGCGACAGG	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1359C>T	22.37:g.44386281C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	103	53	0.514563	NM_015380	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	CCDS14055.1																																																																																			T|0.178;G|0.125	0.178	strong		0.478	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		T	44386281	C	T	44386281	2	4	22	1	0	0	0	0	0	0	0	1	13829	755	27	1		1	SAMM50	22	44386281	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	18159	44386281	6918285	10993	16101										
PARVB	29780	hgsc.bcm.edu	37	chr22	44489868	44489868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgatgtcccccgccctggTggatgttcaccctgaagaca	10	15	1	2	rs1983609	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44489868T>C	ENST00000338758.7	+	2	236	c.173T>C	c.(172-174)gTg>gCg	p.V58A	PARVB_ENST00000404989.1_Missense_Mutation_p.V21A|PARVB_ENST00000406477.3_Missense_Mutation_p.V91A|PARVB_ENST00000477795.1_3'UTR	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	58			V -> A (in dbSNP:rs1983609). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18691976, ECO:0000269|Ref.1}.		actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CCCGCCCTGGTGGATGTTCAC	0.547													C|||	4368	0.872204	0.9773	0.8818	5008	,	,		17134	0.9593		0.7386	False		,,,				2504	0.771				p.V91A		Atlas-SNP	.											.	PARVB	44	.	0			c.T272C						PASS	.	C	ALA/VAL,ALA/VAL	4179,227	136.5+/-172.5	1983,213,7	93	94	94		272,173	-4.1	0	22	dbSNP_92	94	6540,2060	358.0+/-331.0	2486,1568,246	yes	missense,missense	PARVB	NM_001003828.2,NM_013327.4	64,64	4469,1781,253	CC,CT,TT		23.9535,5.1521,17.5842	benign,benign	91/398,58/365	44489868	10719,2287	2203	4300	6503	SO:0001583	missense	29780	exon3			CCCTGGTGGATGT	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.173T>C	22.37:g.44489868T>C	ENSP00000342492:p.Val58Ala	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	86	46	0.534884	NM_001003828	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	CCDS14056.1	1900	0.86996336996337	477	0.9695121951219512	314	0.8674033149171271	553	0.9667832167832168	556	0.7335092348284961	C	0.075	-1.193909	0.01594	0.948479	0.760465	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.91	-4.14	0.03892	Calponin homology domain (1);	0.810877	0.11826	N	0.525663	T	0.00012	0.0000	N	0.10685	0.025	0.80722	P	0.0	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.10450	0.0;0.001;0.001;0.005	T	0.17653	-1.0362	9	0.10111	T	0.7	-9.3018	8.9807	0.35964	0.0:0.4397:0.1084:0.4519	rs1983609;rs5764516;rs17857311;rs52834884;rs61460848;rs1983609	58;21;58;91	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	A	91;58;58;56;21	ENSP00000384515:V91A;ENSP00000342492:V58A;ENSP00000385331:V58A;ENSP00000393758:V56A;ENSP00000384353:V21A	ENSP00000342492:V58A	V	+	2	0	PARVB	42821201	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.009000	0.13219	-1.601000	0.01601	-1.073000	0.02249	GTG	T|0.150;C|0.850	0.850	strong		0.547	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		C	44489868	T	C	44489868	3	2	22	1	0	0	0	0	1	0	0	0	11469	1696	59	2	398	2	PARVB	22	44489868	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	103587	44489868	6814698	10994	16102										
PARVB	29780	hgsc.bcm.edu	37	chr22	44495953	44495953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggagaacgaggagcgcacgAtgattgaccccacttccaag	12	11	0	3	rs56194750	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44495953A>G	ENST00000338758.7	+	3	286	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	PARVB_ENST00000404989.1_Missense_Mutation_p.M38V|PARVB_ENST00000406477.3_Missense_Mutation_p.M108V|PARVB_ENST00000477795.1_3'UTR	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	75					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGCGCACGATGATTGACCC	0.572													A|||	3	0.000599042	0.0	0.0014	5008	,	,		18925	0.0		0.002	False		,,,				2504	0.0				p.M108V		Atlas-SNP	.											.	PARVB	44	.	0			c.A322G						PASS	.	A	VAL/MET,VAL/MET	4,4402	8.1+/-20.4	0,4,2199	123	100	108		322,223	3.5	0.9	22	dbSNP_129	108	35,8565	23.4+/-69.3	0,35,4265	yes	missense,missense	PARVB	NM_001003828.2,NM_013327.4	21,21	0,39,6464	GG,GA,AA		0.407,0.0908,0.2999	benign,benign	108/398,75/365	44495953	39,12967	2203	4300	6503	SO:0001583	missense	29780	exon4			CGCACGATGATTG	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.223A>G	22.37:g.44495953A>G	ENSP00000342492:p.Met75Val	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	97	48	0.494845	NM_001003828	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	CCDS14056.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	A	12.33	1.905546	0.33628	9.08E-4	0.00407	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.5	3.45	0.39498	Calponin homology domain (1);	0.131379	0.64402	N	0.000001	T	0.31513	0.0799	L	0.52905	1.665	0.47511	D	0.999442	B;B;B;B	0.16166	0.005;0.001;0.003;0.016	B;B;B;B	0.23018	0.006;0.005;0.008;0.043	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.8779	7.5657	0.27876	0.8909:0.0:0.1091:0.0	rs56194750	75;38;75;108	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	108;75;75;73;38	ENSP00000384515:M108V;ENSP00000342492:M75V;ENSP00000385331:M75V;ENSP00000393758:M73V;ENSP00000384353:M38V	ENSP00000342492:M75V	M	+	1	0	PARVB	42827286	1.000000	0.71417	0.919000	0.36401	0.989000	0.77384	4.938000	0.63519	0.585000	0.29608	0.460000	0.39030	ATG	A|0.997;G|0.003	0.003	strong		0.572	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		G	44495953	A	G	44495953	3	3	22	1	0	0	0	0	1	0	0	0	11469	333	12	2	452	2	PARVB	22	44495953	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6085	44495953	6808613	10995	16103										
PARVG	64098	hgsc.bcm.edu	37	chr22	44586519	44586519	+	Missense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctctccctcccaaccaaCgtccaggtggaggtcatcac					rs3842780	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44586519C>A	ENST00000444313.3	+	7	961	c.477C>A	c.(475-477)aaC>aaA	p.N159K	PARVG_ENST00000422871.1_Missense_Mutation_p.N159K|PARVG_ENST00000415224.1_Missense_Mutation_p.N159K	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	159					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602													C|||	70	0.0139776	0.053	0.0	5008	,	,		19412	0.0		0.0	False		,,,				2504	0.0				p.N159K		Atlas-SNP	.											PARVG,NS,carcinoma,0,1	PARVG	41	1	0			c.C477A						PASS	.	C	LYS/ASN,LYS/ASN,LYS/ASN	218,4188	133.7+/-170.0	2,214,1987	89	71	77		477,477,477	-2.7	0	22	dbSNP_107	77	0,8600		0,0,4300	yes	missense,missense,missense	PARVG	NM_001137605.1,NM_001137606.1,NM_022141.5	94,94,94	2,214,6287	AA,AC,CC		0.0,4.9478,1.6761	probably-damaging,probably-damaging,probably-damaging	159/332,159/332,159/332	44586519	218,12788	2203	4300	6503	SO:0001583	missense	64098	exon7			AACCAACGTCCAG	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.477C>A	22.37:g.44586519C>A	ENSP00000391583:p.Asn159Lys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	83	32	0.385542	NM_001137606	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	11.29	1.594965	0.28445	0.049478	0.0	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.58506	0.33;0.33;0.33	3.46	-2.74	0.05932	Calponin homology domain (1);	0.347388	0.28130	N	0.016483	T	0.17450	0.0419	M	0.77313	2.365	0.30861	N	0.733509	P	0.50819	0.939	P	0.46253	0.509	T	0.53795	-0.8388	10	0.56958	D	0.05	-1.8351	8.7897	0.34843	0.0:0.5205:0.0:0.4795	rs3842780	159	Q9HBI0	PARVG_HUMAN	K	159	ENSP00000391453:N159K;ENSP00000391583:N159K;ENSP00000416761:N159K	ENSP00000349378:N159K	N	+	3	2	PARVG	42917852	0.015000	0.18098	0.018000	0.16275	0.401000	0.30781	-0.744000	0.04839	-0.298000	0.08921	0.561000	0.74099	AAC	C|0.985;A|0.015	0.015	strong		0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		A	44586519	C	A	44586519	3	1	22	1	0	0	0	0	1	0	0	0	11470	535	19	4	495	4	PARVG	22	44586519	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	90566	44586519	6718047	10996	16104	345	2								
PARVG	64098	hgsc.bcm.edu	37	chr22	44586522	44586522	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctccctcccaaccaacgtCcaggtggaggtcatcactat					rs2272942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44586522C>T	ENST00000444313.3	+	7	964	c.480C>T	c.(478-480)gtC>gtT	p.V160V	PARVG_ENST00000422871.1_Silent_p.V160V|PARVG_ENST00000415224.1_Silent_p.V160V	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	160					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CAACCAACGTCCAGGTGGAGG	0.602													C|||	875	0.17472	0.0696	0.1758	5008	,	,		19312	0.12		0.3618	False		,,,				2504	0.18				p.V160V		Atlas-SNP	.											.	PARVG	41	.	0			c.C480T						PASS	.	C	,,	439,3967	212.8+/-232.6	24,391,1788	86	68	74		480,480,480	-0.3	0.4	22	dbSNP_100	74	2938,5662	457.4+/-364.3	501,1936,1863	no	coding-synonymous,coding-synonymous,coding-synonymous	PARVG	NM_001137605.1,NM_001137606.1,NM_022141.5	,,	525,2327,3651	TT,TC,CC		34.1628,9.9637,25.9649	,,	160/332,160/332,160/332	44586522	3377,9629	2203	4300	6503	SO:0001819	synonymous_variant	64098	exon7			CAACGTCCAGGTG	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.480C>T	22.37:g.44586522C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	81	51	0.62963	NM_001137606	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	CCDS14057.1																																																																																			C|0.747;T|0.253	0.253	strong		0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		T	44586522	C	T	44586522	2	4	22	1	0	0	0	0	0	0	0	1	11470	842	30	2		2	PARVG	22	44586522	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3	44586522	6718044	10997	16105	345	2								
PARVG	64098	hgsc.bcm.edu	37	chr22	44594584	44594584	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaattctacctcactccCaactctcctgcagaaatggt	6	13	3	1	rs139152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:44594584C>G	ENST00000444313.3	+	12	1279	c.795C>G	c.(793-795)ccC>ccG	p.P265P	PARVG_ENST00000422871.1_Silent_p.P265P|PARVG_ENST00000415224.1_Silent_p.P265P	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	265	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCTCACTCCCAACTCTCCTG	0.418													C|||	1022	0.204073	0.0545	0.2046	5008	,	,		15052	0.1954		0.3966	False		,,,				2504	0.2168				p.P265P		Atlas-SNP	.											.	PARVG	41	.	0			c.C795G						PASS	.	C	,,	455,3951	217.8+/-236.0	28,399,1776	189	177	181		795,795,795	3.9	1	22	dbSNP_78	181	3382,5218	500.6+/-375.3	639,2104,1557	no	coding-synonymous,coding-synonymous,coding-synonymous	PARVG	NM_001137605.1,NM_001137606.1,NM_022141.5	,,	667,2503,3333	GG,GC,CC		39.3256,10.3268,29.5018	,,	265/332,265/332,265/332	44594584	3837,9169	2203	4300	6503	SO:0001819	synonymous_variant	64098	exon12			CACTCCCAACTCT	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.795C>G	22.37:g.44594584C>G		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	188	86	0.457447	NM_001137606	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	CCDS14057.1																																																																																			C|0.712;G|0.288	0.288	strong		0.418	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		G	44594584	C	G	44594584	2	3	22	1	0	0	0	0	0	0	0	1	11470	581	21	4		4	PARVG	22	44594584	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8062	44594584	6709982	10998	16106										
ARHGAP8	23779	hgsc.bcm.edu	37	chr22	45221404	45221404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgcacgagggccggacgcCgcctcccaccaagacaccac	10	20	0	1	rs74393756	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45221404C>T	ENST00000389774.2	+	8	761	c.620C>T	c.(619-621)cCg>cTg	p.P207L	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P176L|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P386L|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.P386L|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P176L|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P307L|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P298L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	207					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGCCGGACGCCGCCTCCCACC	0.647													c|||	92	0.0183706	0.0666	0.0043	5008	,	,		12937	0.0		0.0	False		,,,				2504	0.001				p.P298L		Atlas-SNP	.											.	PRR5-ARHGAP8	53	.	0			c.C893T						PASS	.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	258,4146	146.1+/-180.8	6,246,1950	35	37	36		620,527,893,527	1.2	0	22	dbSNP_131	36	4,8594	3.7+/-12.6	0,4,4295	yes	missense,missense,missense,missense	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	98,98,98,98	6,250,6245	TT,TC,CC		0.0465,5.8583,2.0151	benign,benign,benign,benign	207/465,176/306,298/556,176/434	45221404	262,12740	2202	4299	6501	SO:0001583	missense	553158	exon10			GGACGCCGCCTCC	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.620C>T	22.37:g.45221404C>T	ENSP00000374424:p.Pro207Leu	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	185	83	0.448649	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	32|32	0.014652014652014652|0.014652014652014652	30|30	0.06097560975609756|0.06097560975609756	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	c|c	11.26|11.26	1.586905|1.586905	0.28268|0.28268	0.058583|0.058583	4.65E-4|4.65E-4	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099|ENST00000515632	T;T;T;T;T;T;T|.	0.60548|.	2.27;2.25;2.25;2.27;2.2;0.18;2.21|.	4.6|4.6	1.18|1.18	0.20946|0.20946	.|.	1.887620|.	0.03242|.	N|.	0.180497|.	T|T	0.07863|0.07863	0.0197|0.0197	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	0.999994|0.999994	B;B;P;B;B;B;B|.	0.48640|.	0.214;0.007;0.913;0.318;0.049;0.002;0.328|.	B;B;B;B;B;B;B|.	0.28553|.	0.018;0.002;0.091;0.018;0.004;0.001;0.011|.	T|T	0.07597|0.07597	-1.0764|-1.0764	10|5	0.52906|.	T|.	0.07|.	.|.	7.5251|7.5251	0.27650|0.27650	0.0:0.7049:0.0:0.2951|0.0:0.7049:0.0:0.2951	.|.	212;176;212;207;217;386;307|.	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3|.	.;.;.;RHG08_HUMAN;.;.;.|.	L|C	307;386;386;298;207;176;176|230	ENSP00000354732:P307L;ENSP00000262731:P386L;ENSP00000429240:P386L;ENSP00000374423:P298L;ENSP00000374424:P207L;ENSP00000337287:P176L;ENSP00000348407:P176L|.	ENSP00000337287:P176L|.	P|R	+|+	2|1	0|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43600068|43600068	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.734000|0.734000	0.26101|0.26101	0.120000|0.120000	0.18254|0.18254	-0.130000|-0.130000	0.14895|0.14895	CCG|CGC	C|0.978;T|0.022	0.022	strong		0.647	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		T	45221404	C	T	45221404	3	4	22	1	0	0	0	0	1	0	0	0	888	652	23	1	646	1	ARHGAP8	22	45221404	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	626820	45221404	6083162	10999	16107										
ARHGAP8	23779	hgsc.bcm.edu	37	chr22	45244930	45244930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcctacgagcagattctCgggatcacctgtgcgtagct	12	12	2	1	rs2269543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45244930C>T	ENST00000389774.2	+	11	1101	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ARHGAP8_ENST00000336963.4_Silent_p.L289L|ARHGAP8_ENST00000517296.3_Silent_p.L499L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L499L|ARHGAP8_ENST00000356099.6_Silent_p.L289L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L420L|ARHGAP8_ENST00000389773.5_Silent_p.L411L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	320	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGCAGATTCTCGGGATCACCT	0.647													C|||	1839	0.367212	0.5915	0.2594	5008	,	,		18232	0.3105		0.2495	False		,,,				2504	0.32				p.L411L		Atlas-SNP	.											.	PRR5-ARHGAP8	53	.	0			c.C1233T						PASS	.	C	,,,	2352,2054	608.2+/-391.1	619,1114,470	137	134	135		960,867,1233,867	-7.6	0	22	dbSNP_100	135	2331,6269	391.0+/-343.5	304,1723,2273	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	,,,	923,2837,2743	TT,TC,CC		27.1047,46.6182,36.0065	,,,	320/465,289/306,411/556,289/434	45244930	4683,8323	2203	4300	6503	SO:0001819	synonymous_variant	553158	exon13			GATTCTCGGGATC	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.960C>T	22.37:g.45244930C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	84	39	0.464286	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	CCDS33664.1	734	0.3360805860805861	259	0.5264227642276422	101	0.27900552486187846	189	0.3304195804195804	185	0.24406332453825857	C	2.230	-0.376321	0.05000	0.533818	0.271047	ENSG00000248405	ENST00000515632	.	.	.	3.82	-7.64	0.01286	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999630717	.	.	.	.	.	.	T	0.26849	-1.0091	3	.	.	.	.	9.5126	0.39087	0.0:0.1381:0.5818:0.2802	rs2269543;rs5766098;rs17845265;rs17858094;rs17859480;rs59025261;rs2269543	.	.	.	L	343	.	.	S	+	2	0	PRR5-ARHGAP8	43623594	0.000000	0.05858	0.002000	0.10522	0.505000	0.33919	-2.997000	0.00654	-1.448000	0.01941	-0.244000	0.11960	TCG	C|0.642;N|0.001	.	strong		0.647	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		T	45244930	C	T	45244930	2	4	22	1	0	0	0	0	0	0	0	1	888	871	31	1		1	ARHGAP8	22	45244930	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23526	45244930	6059636	11000	16108										
PHF21B	112885	hgsc.bcm.edu	37	chr22	45283897	45283897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgggcgccgtcttgaggggCggctccaggcagctgaggtg	19	10	1	2	rs6006901	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45283897C>T	ENST00000313237.5	-	10	1293	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	PHF21B_ENST00000403565.1_Silent_p.P177P|PHF21B_ENST00000396103.3_Silent_p.P339P|PHF21B_ENST00000404079.2_Silent_p.P327P	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	381							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TCTTGAGGGGCGGCTCCAGGC	0.687													C|||	905	0.180711	0.354	0.1225	5008	,	,		13675	0.0833		0.1004	False		,,,				2504	0.1708				p.P381P		Atlas-SNP	.											.	PHF21B	61	.	0			c.G1143A						PASS	.	C	,,	1265,3101		185,895,1103	12	12	12		1017,981,1143	-2.4	1	22	dbSNP_114	12	898,7656		62,774,3441	no	coding-synonymous,coding-synonymous,coding-synonymous	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	,,	247,1669,4544	TT,TC,CC		10.498,28.9739,16.7415	,,	339/490,327/478,381/532	45283897	2163,10757	2183	4277	6460	SO:0001819	synonymous_variant	112885	exon10			GAGGGGCGGCTCC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.1143G>A	22.37:g.45283897C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	95	50	0.526316	NM_138415	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	CCDS14061.1																																																																																			C|0.826;T|0.174	0.174	strong		0.687	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		T	45283897	C	T	45283897	2	4	22	1	0	0	0	0	0	0	0	1	11834	755	27	1		1	PHF21B	22	45283897	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	38967	45283897	6020669	11001	16109										
PHF21B	112885	hgsc.bcm.edu	37	chr22	45312244	45312244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgctgggggccatggcggcGgcattgctgggggaggtgga	23	7	0	0	rs6519902	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45312244G>A	ENST00000313237.5	-	4	630	c.480C>T	c.(478-480)gcC>gcT	p.A160A	PHF21B_ENST00000447824.3_Silent_p.A148A|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Silent_p.A160A|PHF21B_ENST00000404079.2_Silent_p.A148A	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	160							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCATGGCGGCGGCATTGCTGG	0.687													G|||	747	0.149161	0.326	0.0908	5008	,	,		15178	0.0119		0.0974	False		,,,				2504	0.1462				p.A160A		Atlas-SNP	.											PHF21B,colon,carcinoma,0,1	PHF21B	61	1	0			c.C480T						PASS	.	G	,,	1199,3201		174,851,1175	21	27	25		480,444,480	-2.2	0.2	22	dbSNP_116	25	908,7684		57,794,3445	no	coding-synonymous,coding-synonymous,coding-synonymous	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	,,	231,1645,4620	AA,AG,GG		10.568,27.25,16.2177	,,	160/490,148/478,160/532	45312244	2107,10885	2200	4296	6496	SO:0001819	synonymous_variant	112885	exon4			GGCGGCGGCATTG	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.480C>T	22.37:g.45312244G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_138415	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	CCDS14061.1																																																																																			G|0.850;A|0.150	0.150	strong		0.687	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		A	45312244	G	A	45312244	2	1	22	1	0	0	0	0	0	0	0	1	11834	1103	39	1		1	PHF21B	22	45312244	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28347	45312244	5992322	11002	16110										
NUP50	10762	hgsc.bcm.edu	37	chr22	45577231	45577231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgaagtaaaagaagaagaTgctttttactccaaaaagta	7	6	0	3	rs226524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45577231T>C	ENST00000347635.4	+	6	1534	c.1068T>C	c.(1066-1068)gaT>gaC	p.D356D	NUP50_ENST00000425733.2_Silent_p.D106D|NUP50_ENST00000407019.2_Silent_p.D328D|NUP50_ENST00000396096.2_Silent_p.D328D|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	356	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAAGAAGATGCTTTTTACT	0.423													T|||	1388	0.277157	0.2398	0.2349	5008	,	,		17451	0.5704		0.166	False		,,,				2504	0.1697				p.D356D		Atlas-SNP	.											.	NUP50	24	.	0			c.T1068C						PASS	.	T	,	1049,3357	385.8+/-325.9	111,827,1265	80	82	81		1068,984	0.1	1	22	dbSNP_79	81	1307,7293	256.6+/-281.0	111,1085,3104	no	coding-synonymous,coding-synonymous	NUP50	NM_007172.3,NM_153645.2	,	222,1912,4369	CC,CT,TT		15.1977,23.8084,18.1147	,	356/469,328/441	45577231	2356,10650	2203	4300	6503	SO:0001819	synonymous_variant	10762	exon6			AGAAGATGCTTTT	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1068T>C	22.37:g.45577231T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_007172	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	CCDS14062.1																																																																																			T|0.772;C|0.228	0.228	strong		0.423	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			C	45577231	T	C	45577231	2	2	22	1	0	0	0	0	0	0	0	1	10766	1461	51	2		2	NUP50	22	45577231	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	264987	45577231	5727335	11003	16111										
UPK3A	7380	hgsc.bcm.edu	37	chr22	45683309	45683309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagggcctctgtaacgcaccCctgtcggcagccacggagta	12	15	1	0	rs62001037	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45683309C>T	ENST00000216211.4	+	3	497	c.465C>T	c.(463-465)ccC>ccT	p.P155P	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	155					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTAACGCACCCCTGTCGGCAG	0.607													C|||	116	0.0231629	0.084	0.0058	5008	,	,		16168	0.0		0.001	False		,,,				2504	0.0				p.P155P		Atlas-SNP	.											.	UPK3A	14	.	0			c.C465T						PASS	.	C	,	338,4066		14,310,1878	28	27	28		,465	0.4	1	22	dbSNP_129	28	1,8599		0,1,4299	no	intron,coding-synonymous	UPK3A	NM_001167574.1,NM_006953.3	,	14,311,6177	TT,TC,CC		0.0116,7.6748,2.6069	,	,155/288	45683309	339,12665	2202	4300	6502	SO:0001819	synonymous_variant	7380	exon3			CGCACCCCTGTCG	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.465C>T	22.37:g.45683309C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																			C|0.973;T|0.027	0.027	strong		0.607	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		T	45683309	C	T	45683309	2	4	22	1	0	0	0	0	0	0	0	1	17007	610	22	2		2	UPK3A	22	45683309	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	106078	45683309	5621257	11004	16112										
UPK3A	7380	hgsc.bcm.edu	37	chr22	45685002	45685002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggaccagaccctgtggtcAgaccccatccgcaccaacca	9	17	1	2	rs1135360	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45685002A>G	ENST00000216211.4	+	4	581	c.549A>G	c.(547-549)tcA>tcG	p.S183S	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	183					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCTGTGGTCAGACCCCATCC	0.597													a|||	3327	0.664337	0.9032	0.5749	5008	,	,		17504	0.6954		0.4324	False		,,,				2504	0.6115				p.S183S		Atlas-SNP	.											.	UPK3A	14	.	0			c.A549G						PASS	.	G	,	3660,746	755.5+/-412.6	1512,636,55	90	82	85		,549	-9.6	0.2	22	dbSNP_86	85	3551,5049	516.0+/-378.7	737,2077,1486	no	intron,coding-synonymous	UPK3A	NM_001167574.1,NM_006953.3	,	2249,2713,1541	GG,GA,AA		41.2907,16.9315,44.5564	,	,183/288	45685002	7211,5795	2203	4300	6503	SO:0001819	synonymous_variant	7380	exon4			GTGGTCAGACCCC	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.549A>G	22.37:g.45685002A>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																			A|0.413;G|0.587	0.587	strong		0.597	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		G	45685002	A	G	45685002	2	3	22	1	0	0	0	0	0	0	0	1	17007	175	7	3		3	UPK3A	22	45685002	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1693	45685002	5619564	11005	16113										
UPK3A	7380	hgsc.bcm.edu	37	chr22	45691594	45691594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgtattccagcaagctccaAgactgagcccagcaccaccc	8	16	0	2	rs1057356	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45691594A>G	ENST00000216211.4	+	6	890	c.858A>G	c.(856-858)caA>caG	p.Q286Q	UPK3A_ENST00000396082.2_Silent_p.Q165Q	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	286					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAAGCTCCAAGACTGAGCCC	0.647													G|||	3146	0.628195	0.8843	0.4841	5008	,	,		17593	0.6508		0.3598	False		,,,				2504	0.637				p.Q286Q		Atlas-SNP	.											.	UPK3A	14	.	0			c.A858G						PASS	.	G	,	3524,882	328.3+/-300.5	1414,696,93	35	33	34		495,858	3	1	22	dbSNP_86	34	2982,5618	641.4+/-399.7	519,1944,1837	no	coding-synonymous,coding-synonymous	UPK3A	NM_001167574.1,NM_006953.3	,	1933,2640,1930	GG,GA,AA		34.6744,20.0182,49.9769	,	165/167,286/288	45691594	6506,6500	2203	4300	6503	SO:0001819	synonymous_variant	7380	exon6			GCTCCAAGACTGA	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.858A>G	22.37:g.45691594A>G		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	33	0.6	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																			A|0.474;G|0.526	0.526	strong		0.647	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		G	45691594	A	G	45691594	2	3	22	1	0	0	0	0	0	0	0	1	17007	69	3	3		3	UPK3A	22	45691594	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6592	45691594	5612972	11006	16114										
FAM118A	55007	hgsc.bcm.edu	37	chr22	45723807	45723807	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcacatccggagtcctGtggtgctgcagtcgatcctc	12	13	0	0	rs11556482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45723807G>C	ENST00000216214.3	+	5	1219	c.385G>C	c.(385-387)Gtg>Ctg	p.V129L	FAM118A_ENST00000441876.2_Missense_Mutation_p.V129L|FAM118A_ENST00000405673.1_Missense_Mutation_p.V129L|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	129			V -> L (in dbSNP:rs11556482). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCGGAGTCCTGTGGTGCTGCA	0.592													C|||	2691	0.53734	0.8548	0.402	5008	,	,		19525	0.5258		0.2932	False		,,,				2504	0.4673				p.V129L		Atlas-SNP	.											.	FAM118A	32	.	0			c.G385C						PASS	.	C	LEU/VAL,LEU/VAL	3325,1081	392.4+/-328.5	1262,801,140	70	59	63		385,385	0	0.1	22	dbSNP_120	63	2445,6155	697.2+/-404.9	354,1737,2209	yes	missense,missense	FAM118A	NM_001104595.1,NM_017911.2	32,32	1616,2538,2349	CC,CG,GG		28.4302,24.5347,44.3641	benign,benign	129/358,129/358	45723807	5770,7236	2203	4300	6503	SO:0001583	missense	55007	exon4			AGTCCTGTGGTGC	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.385G>C	22.37:g.45723807G>C	ENSP00000216214:p.Val129Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	156	86	0.551282	NM_017911	B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	1086	0.49725274725274726	414	0.8414634146341463	153	0.42265193370165743	299	0.5227272727272727	220	0.29023746701846964	C	0.889	-0.726183	0.03158	0.754653	0.284302	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673;ENST00000427777	T;T;T;T	0.42131	1.03;1.03;0.98;0.99	5.12	-0.0348	0.13895	.	0.968722	0.08538	N	0.930981	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36163	-0.9759	9	0.27785	T	0.31	-20.5793	13.0846	0.59133	0.0917:0.3886:0.5197:0.0	rs11556482;rs17845392;rs17858249	129	Q9NWS6	F118A_HUMAN	L	129	ENSP00000216214:V129L;ENSP00000395892:V129L;ENSP00000385231:V129L;ENSP00000395194:V129L	ENSP00000216214:V129L	V	+	1	0	FAM118A	44102471	0.935000	0.31712	0.119000	0.21687	0.190000	0.23558	1.400000	0.34577	0.124000	0.18369	-0.335000	0.08231	GTG	G|0.539;C|0.461	0.461	strong		0.592	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		C	45723807	G	C	45723807	3	2	22	1	0	0	0	0	1	0	0	0	5411	1377	48	4	395	4	FAM118A	22	45723807	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32213	45723807	5580759	11007	16115										
FAM118A	55007	hgsc.bcm.edu	37	chr22	45723842	45723842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcctcagcctgatggacagGggcgccatggtcctgaccac	12	14	1	2	rs17851057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45723842G>A	ENST00000216214.3	+	5	1254	c.420G>A	c.(418-420)agG>agA	p.R140R	FAM118A_ENST00000441876.2_Silent_p.R140R|FAM118A_ENST00000405673.1_Silent_p.R140R|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	140						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGATGGACAGGGGCGCCATGG	0.597													G|||	2686	0.536342	0.851	0.4006	5008	,	,		18320	0.5268		0.2932	False		,,,				2504	0.4673				p.R140R		Atlas-SNP	.											.	FAM118A	32	.	0			c.G420A						PASS	.	G	,	3316,1090	717.8+/-408.8	1258,800,145	58	48	52		420,420	-0.2	0.9	22	dbSNP_123	52	2444,6156	402.6+/-347.5	354,1736,2210	no	coding-synonymous,coding-synonymous	FAM118A	NM_001104595.1,NM_017911.2	,	1612,2536,2355	AA,AG,GG		28.4186,24.739,44.2873	,	140/358,140/358	45723842	5760,7246	2203	4300	6503	SO:0001819	synonymous_variant	55007	exon4			GGACAGGGGCGCC	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.420G>A	22.37:g.45723842G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	149	81	0.543624	NM_017911	B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																			G|0.539;A|0.461	0.461	strong		0.597	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		A	45723842	G	A	45723842	2	1	22	1	0	0	0	0	0	0	0	1	5411	1223	43	2		2	FAM118A	22	45723842	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	35	45723842	5580724	11008	16116										
FAM118A	55007	hgsc.bcm.edu	37	chr22	45728370	45728370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggctgtggggagacccttcGtgatcagatattccaggccc	14	11	1	3	rs6007594	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45728370G>A	ENST00000216214.3	+	7	1550	c.716G>A	c.(715-717)cGt>cAt	p.R239H	FAM118A_ENST00000441876.2_Missense_Mutation_p.R239H|FAM118A_ENST00000405548.3_Missense_Mutation_p.R57H	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	239			R -> H (in dbSNP:rs6007594). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)		p.R239H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGACCCTTCGTGATCAGATA	0.458													G|||	2632	0.525559	0.8411	0.3905	5008	,	,		20074	0.5218		0.2724	False		,,,				2504	0.4591				p.R239H		Atlas-SNP	.											FAM118A,NS,carcinoma,0,1	FAM118A	32	1	1	Substitution - Missense(1)	stomach(1)	c.G716A						scavenged	.	G	HIS/ARG,HIS/ARG	3274,1132	714.4+/-408.4	1225,824,154	129	138	135		716,716	5.8	0.2	22	dbSNP_114	135	2331,6269	391.1+/-343.5	318,1695,2287	yes	missense,missense	FAM118A	NM_001104595.1,NM_017911.2	29,29	1543,2519,2441	AA,AG,GG		27.1047,25.6922,43.0955	probably-damaging,probably-damaging	239/358,239/358	45728370	5605,7401	2203	4300	6503	SO:0001583	missense	55007	exon6			CCCTTCGTGATCA	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.716G>A	22.37:g.45728370G>A	ENSP00000216214:p.Arg239His	Somatic	260	2	0.00769231		WXS	Illumina HiSeq	Phase_I	223	107	0.479821	NM_017911	B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	1048	0.47985347985347987	406	0.8252032520325203	149	0.4116022099447514	295	0.5157342657342657	198	0.2612137203166227	G	20.4	3.981425	0.74474	0.743078	0.271047	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405548	T;T;T	0.29142	1.58;1.58;1.58	5.8	5.8	0.92144	.	0.132445	0.52532	D	0.000067	T	0.00012	0.0000	N	0.25647	0.755	0.24306	P	0.99510402	D	0.76494	0.999	D	0.65323	0.934	T	0.02852	-1.1102	9	0.46703	T	0.11	-4.8413	12.9483	0.58386	0.0748:0.0:0.9252:0.0	rs6007594;rs6519925;rs17845391;rs17858248;rs52828151;rs60885839;rs6007594	239	Q9NWS6	F118A_HUMAN	H	239;239;57	ENSP00000216214:R239H;ENSP00000395892:R239H;ENSP00000384836:R57H	ENSP00000216214:R239H	R	+	2	0	FAM118A	44107034	1.000000	0.71417	0.243000	0.24186	0.953000	0.61014	5.769000	0.68865	2.743000	0.94032	0.655000	0.94253	CGT	G|0.536;A|0.464	0.464	strong		0.458	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		A	45728370	G	A	45728370	3	1	22	1	0	0	0	0	1	0	0	0	5411	1145	40	1	734	1	FAM118A	22	45728370	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4528	45728370	5576196	11009	16117										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45741416	45741416	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatgactatcatctgaaacTggtcttgagtttgctctttg	9	7	4	4	rs61737925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45741416T>A	ENST00000357450.4	-	24	3529	c.3530A>T	c.(3529-3531)cAg>cTg	p.Q1177L	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q1103L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1177					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCTGAAACTGGTCTTGAGT	0.448													T|||	55	0.0109824	0.0408	0.0014	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.0				p.Q1177L		Atlas-SNP	.											.	SMC1B	215	.	0			c.A3530T						PASS	.	T	LEU/GLN	155,3629		4,147,1741	133	127	129		3530	5.6	1	22	dbSNP_129	129	0,8236		0,0,4118	yes	missense	SMC1B	NM_148674.3	113	4,147,5859	AA,AT,TT		0.0,4.0962,1.2895	probably-damaging	1177/1236	45741416	155,11865	1892	4118	6010	SO:0001583	missense	27127	exon24			TGAAACTGGTCTT	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3530A>T	22.37:g.45741416T>A	ENSP00000350036:p.Gln1177Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	148	78	0.527027	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	T	18.42	3.620931	0.66787	0.040962	0.0	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77358	2.94;-1.09	5.61	5.61	0.85477	.	0.105145	0.42682	D	0.000676	T	0.46580	0.1400	L	0.43152	1.355	0.28411	N	0.91821	P;P	0.41848	0.763;0.573	P;B	0.44897	0.463;0.236	T	0.62779	-0.6782	10	0.40728	T	0.16	.	15.8023	0.78463	0.0:0.0:0.0:1.0	rs61737925	1103;1177	Q8NDV3-2;Q8NDV3-3	.;.	L	1177;1103	ENSP00000350036:Q1177L;ENSP00000385902:Q1103L	ENSP00000350036:Q1177L	Q	-	2	0	SMC1B	44120080	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	3.975000	0.56859	2.142000	0.66516	0.397000	0.26171	CAG	T|0.960;A|0.040	0.040	strong		0.448	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		A	45741416	T	A	45741416	3	1	22	1	0	0	0	0	1	0	0	0	14782	1580	55	5	185	5	SMC1B	22	45741416	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	13046	45741416	5563150	11010	16118										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45767455	45767455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttagtagttcactttgtaActgagattgttcctaataac	6	6	1	1	rs136569	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45767455A>G	ENST00000357450.4	-	14	2208	c.2209T>C	c.(2209-2211)Tta>Cta	p.L737L	SMC1B_ENST00000404354.3_Silent_p.L737L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	737					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCACTTTGTAACTGAGATTGT	0.289													G|||	3567	0.71226	0.9546	0.5375	5008	,	,		17860	0.7054		0.506	False		,,,				2504	0.728				p.L737L		Atlas-SNP	.											.	SMC1B	215	.	0			c.T2209C						PASS	.	G		3209,411		1426,357,27	72	66	68		2209	4.6	1	22	dbSNP_78	68	3896,4216		933,2030,1093	no	coding-synonymous	SMC1B	NM_148674.3		2359,2387,1120	GG,GA,AA		48.0276,11.3536,39.4391		737/1236	45767455	7105,4627	1810	4056	5866	SO:0001819	synonymous_variant	27127	exon14			TTTGTAACTGAGA	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2209T>C	22.37:g.45767455A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	135	63	0.466667	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	CCDS43027.1																																																																																			A|0.380;G|0.620	0.620	strong		0.289	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		G	45767455	A	G	45767455	2	3	22	1	0	0	0	0	0	0	0	1	14782	40	2	2		2	SMC1B	22	45767455	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	26039	45767455	5537111	11011	16119										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45782903	45782903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacagcctttaagctccctTagtctttcattgattggctt	6	10	2	1	rs6007010	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:45782903T>C	ENST00000357450.4	-	11	1754	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L	SMC1B_ENST00000404354.3_Silent_p.L585L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	585	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TAAGCTCCCTTAGTCTTTCAT	0.323													T|||	2837	0.566494	0.9054	0.3977	5008	,	,		21535	0.5268		0.3728	False		,,,				2504	0.4683				p.L585L		Atlas-SNP	.											SMC1B_ENST00000357450,NS,carcinoma,-1,4	SMC1B	215	4	0			c.A1755G						PASS	.	T		3069,633		1281,507,63	148	139	142		1755	-6.2	0.2	22	dbSNP_114	142	2935,5279		530,1875,1702	no	coding-synonymous	SMC1B	NM_148674.3		1811,2382,1765	CC,CT,TT		35.7317,17.0989,49.614		585/1236	45782903	6004,5912	1851	4107	5958	SO:0001819	synonymous_variant	27127	exon11			CTCCCTTAGTCTT	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1755A>G	22.37:g.45782903T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	111	64	0.576577	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	CCDS43027.1																																																																																			T|0.518;C|0.482	0.482	strong		0.323	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		C	45782903	T	C	45782903	2	2	22	1	0	0	0	0	0	0	0	1	14782	1741	61	2		2	SMC1B	22	45782903	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	15448	45782903	5521663	11012	16120										
C22orf40	150383	hgsc.bcm.edu	37	chr22	46644168	46644168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcccagaggacggcactctAcatgggacgccatctgcaag	11	14	2	1	rs9627281	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46644168A>G	ENST00000314567.3	-	2	437	c.14T>C	c.(13-15)gTa>gCa	p.V5A	CDPF1_ENST00000404583.1_Missense_Mutation_p.V5A|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Missense_Mutation_p.V5A	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	5			V -> A (in dbSNP:rs9627281).														ACGGCACTCTACATGGGACGC	0.547													G|||	1398	0.279153	0.7602	0.1686	5008	,	,		19465	0.001		0.1938	False		,,,				2504	0.0818				p.V5A		Atlas-SNP	.											.	.	.	.	0			c.T14C						PASS	.	G	ALA/VAL	3035,1371	450.4+/-349.3	1051,933,219	73	56	62		14	0.4	0	22	dbSNP_119	62	1571,7029	742.3+/-407.2	135,1301,2864	yes	missense	C22orf40	NM_207327.4	64	1186,2234,3083	GG,GA,AA		18.2674,31.1167,35.4144	benign	5/124	46644168	4606,8400	2203	4300	6503	SO:0001583	missense	150383	exon2			CACTCTACATGGG		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.14T>C	22.37:g.46644168A>G	ENSP00000325301:p.Val5Ala	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_207327	A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	CCDS33670.1	566	0.2591575091575092	358	0.7276422764227642	69	0.19060773480662985	0	0.0	139	0.18337730870712401	G	0.220	-1.029070	0.02045	0.688833	0.182674	ENSG00000205643	ENST00000404583;ENST00000314567;ENST00000404744	T;T;T	0.28895	1.69;1.72;1.59	5.02	0.371	0.16168	.	1.182090	0.06046	N	0.655683	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43861	-0.9365	9	0.02654	T	1	.	1.6123	0.02696	0.1825:0.3076:0.3521:0.1578	rs9627281	5;5;5	Q6NVV7;F6RAJ7;F6UL18	CV040_HUMAN;.;.	A	5	ENSP00000384451:V5A;ENSP00000325301:V5A;ENSP00000385460:V5A	ENSP00000325301:V5A	V	-	2	0	C22orf40	45022832	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.533000	0.23082	0.288000	0.22398	-0.119000	0.15052	GTA	A|0.682;G|0.318	0.318	strong		0.547	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		G	46644168	A	G	46644168	3	3	22	1	0	0	0	0	1	0	0	0	2148	391	14	2	369	2	C22orf40	22	46644168	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	861265	46644168	4660398	11013	16121										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46652737	46652737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaaataagttgatcaagacGcagatcatcaccagcatgaa	8	8	3	5	rs6008362	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46652737G>A	ENST00000253255.5	-	1	6482	c.6483C>T	c.(6481-6483)tgC>tgT	p.C2161C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2161					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)		TGATCAAGACGCAGATCATCA	0.438													G|||	1202	0.240016	0.6604	0.1297	5008	,	,		22415	0.001		0.16	False		,,,				2504	0.0787				p.C2161C		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C6483T						PASS	.	G		2569,1837	635.7+/-396.4	749,1071,383	68	65	66		6483	-2.1	0.2	22	dbSNP_114	66	1256,7344	251.2+/-277.8	88,1080,3132	no	coding-synonymous	PKDREJ	NM_006071.1		837,2151,3515	AA,AG,GG		14.6047,41.6931,29.4095		2161/2254	46652737	3825,9181	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			CAAGACGCAGATC	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.6483C>T	22.37:g.46652737G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	121	67	0.553719	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.737;A|0.263	0.263	strong		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46652737	G	A	46652737	2	1	22	1	0	0	0	0	0	0	0	1	11970	1079	38	1		1	PKDREJ	22	46652737	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	8569	46652737	4651829	11014	16122										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46652929	46652929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtatacgaagaaatacacGgacacaacaaatgccatgtg	8	8	0	1	rs6008365	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46652929G>A	ENST00000253255.5	-	1	6290	c.6291C>T	c.(6289-6291)tcC>tcT	p.S2097S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2097					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)		AGAAATACACGGACACAACAA	0.483													G|||	1213	0.242212	0.6604	0.1297	5008	,	,		21491	0.002		0.16	False		,,,				2504	0.089				p.S2097S		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C6291T						PASS	.	G		2567,1839	627.1+/-394.8	748,1071,384	42	42	42		6291	-3.4	0	22	dbSNP_114	42	1257,7343	249.0+/-276.5	88,1081,3131	no	coding-synonymous	PKDREJ	NM_006071.1		836,2152,3515	AA,AG,GG		14.6163,41.7385,29.4018		2097/2254	46652929	3824,9182	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			ATACACGGACACA	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.6291C>T	22.37:g.46652929G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	74	38	0.513514	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.739;A|0.261	0.261	strong		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46652929	G	A	46652929	2	1	22	1	0	0	0	0	0	0	0	1	11970	1103	39	1		1	PKDREJ	22	46652929	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	192	46652929	4651637	11015	16123										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46654323	46654323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attcgttctgaagcctgacaGgagtataattttagatggct	10	6	1	3	rs6007740	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46654323G>A	ENST00000253255.5	-	1	4896	c.4897C>T	c.(4897-4899)Ctg>Ttg	p.L1633L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1633					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)		AAGCCTGACAGGAGTATAATT	0.393													A|||	1205	0.240615	0.6626	0.1297	5008	,	,		20164	0.001		0.16	False		,,,				2504	0.0787				p.L1633L		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C4897T						PASS	.	A		2581,1825	523.8+/-371.2	757,1067,379	78	77	77		4897	-9.9	0	22	dbSNP_114	77	1253,7347	758.3+/-407.5	88,1077,3135	no	coding-synonymous	PKDREJ	NM_006071.1		845,2144,3514	AA,AG,GG		14.5698,41.4208,29.4787		1633/2254	46654323	3834,9172	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			CTGACAGGAGTAT	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.4897C>T	22.37:g.46654323G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	118	49	0.415254	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.736;A|0.264	0.264	strong		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46654323	G	A	46654323	2	1	22	1	0	0	0	0	0	0	0	1	11970	991	35	2		2	PKDREJ	22	46654323	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1394	46654323	4650243	11016	16124										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46655948	46655948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaattctcactagcttgtcaTtgagcttcatgacaaaacga	6	9	3	2	rs6008384	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46655948T>C	ENST00000253255.5	-	1	3271	c.3272A>G	c.(3271-3273)aAt>aGt	p.N1091S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1091			N -> S (in dbSNP:rs6008384).		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)		TAGCTTGTCATTGAGCTTCAT	0.483													T|||	1229	0.245407	0.6785	0.134	5008	,	,		23472	0.001		0.16	False		,,,				2504	0.0787				p.N1091S		Atlas-SNP	.											.	PKDREJ	195	.	0			c.A3272G						PASS	.	T	SER/ASN	2656,1750	645.8+/-398.3	795,1066,342	77	70	72		3272	-8.3	0	22	dbSNP_114	72	1259,7341	251.5+/-278.0	88,1083,3129	yes	missense	PKDREJ	NM_006071.1	46	883,2149,3471	CC,CT,TT		14.6395,39.7186,30.1015	benign	1091/2254	46655948	3915,9091	2203	4300	6503	SO:0001583	missense	10343	exon1			TTGTCATTGAGCT	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.3272A>G	22.37:g.46655948T>C	ENSP00000253255:p.Asn1091Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	161	79	0.490683	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	477	0.2184065934065934	309	0.6280487804878049	55	0.15193370165745856	0	0.0	113	0.14907651715039577	T	0.065	-1.215526	0.01542	0.602814	0.146395	ENSG00000130943	ENST00000253255	T	0.35421	1.31	5.2	-8.26	0.01021	.	0.805875	0.11434	N	0.564463	T	0.00012	0.0000	N	0.01219	-0.95	0.80722	P	0.0	B	0.11235	0.004	B	0.06405	0.002	T	0.31724	-0.9933	9	0.06494	T	0.89	-3.5036	8.6733	0.34163	0.0:0.3609:0.4339:0.2053	rs6008384;rs7287374;rs60191122;rs6008384	1091	Q9NTG1	PKDRE_HUMAN	S	1091	ENSP00000253255:N1091S	ENSP00000253255:N1091S	N	-	2	0	PKDREJ	45034612	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.624000	0.00876	-1.777000	0.01283	-0.624000	0.04008	AAT	T|0.721;C|0.279	0.279	strong		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		C	46655948	T	C	46655948	3	2	22	1	0	0	0	0	1	0	0	0	11970	1493	52	2	3493	2	PKDREJ	22	46655948	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1625	46655948	4648618	11017	16125										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656246	46656246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagaacctccctaagcactgTgctgtccacttgaaagctaa	7	13	0	2	rs7291444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46656246T>G	ENST00000253255.5	-	1	2973	c.2974A>C	c.(2974-2976)Aca>Cca	p.T992P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	992			T -> P (in dbSNP:rs7291444).		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)		CTAAGCACTGTGCTGTCCACT	0.507													T|||	1065	0.21266	0.5575	0.1297	5008	,	,		21694	0.001		0.16	False		,,,				2504	0.0777				p.T992P		Atlas-SNP	.											.	PKDREJ	195	.	0			c.A2974C						PASS	.	T	PRO/THR	2031,2375	562.8+/-381.0	571,889,743	147	140	142		2974	-1.3	0	22	dbSNP_116	142	1254,7346	251.0+/-277.6	88,1078,3134	yes	missense	PKDREJ	NM_006071.1	38	659,1967,3877	GG,GT,TT		14.5814,46.0962,25.2576	benign	992/2254	46656246	3285,9721	2203	4300	6503	SO:0001583	missense	10343	exon1			GCACTGTGCTGTC	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.2974A>C	22.37:g.46656246T>G	ENSP00000253255:p.Thr992Pro	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	148	73	0.493243	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	449	0.20558608058608058	281	0.5711382113821138	55	0.15193370165745856	0	0.0	113	0.14907651715039577	T	9.836	1.189664	0.21954	0.460962	0.145814	ENSG00000130943	ENST00000253255	T	0.36340	1.26	4.65	-1.26	0.09376	.	1.107710	0.06788	N	0.786461	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.20368	0.044	B	0.16722	0.016	T	0.47355	-0.9124	9	0.30078	T	0.28	0.8913	5.6541	0.17633	0.0:0.2993:0.1343:0.5664	rs7291444;rs52836498;rs57430542;rs7291444	992	Q9NTG1	PKDRE_HUMAN	P	992	ENSP00000253255:T992P	ENSP00000253255:T992P	T	-	1	0	PKDREJ	45034910	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-1.782000	0.01772	-0.425000	0.07371	0.533000	0.62120	ACA	A|0.001;G|0.248;T|0.751	0.248	strong		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656246	T	G	46656246	3	3	22	1	0	0	0	0	1	0	0	0	11970	1696	59	5	3791	5	PKDREJ	22	46656246	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	298	46656246	4648320	11018	16126										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656479	46656479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatcatttaaccaaggaaagAggtcatttgtgaaatcacaa	8	6	3	2	rs6519993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46656479A>G	ENST00000253255.5	-	1	2740	c.2741T>C	c.(2740-2742)cTc>cCc	p.L914P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	914			L -> P (in dbSNP:rs6519993).		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)		CCAAGGAAAGAGGTCATTTGT	0.418													G|||	1229	0.245407	0.6785	0.134	5008	,	,		22048	0.001		0.16	False		,,,				2504	0.0787				p.L914P		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T2741C						PASS	.	G	PRO/LEU	2650,1756	517.3+/-369.4	793,1064,346	106	111	109		2741	5.3	1	22	dbSNP_116	109	1256,7344	758.5+/-407.5	88,1080,3132	yes	missense	PKDREJ	NM_006071.1	98	881,2144,3478	GG,GA,AA		14.6047,39.8547,30.0323	benign	914/2254	46656479	3906,9100	2203	4300	6503	SO:0001583	missense	10343	exon1			GGAAAGAGGTCAT	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.2741T>C	22.37:g.46656479A>G	ENSP00000253255:p.Leu914Pro	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	477	0.2184065934065934	309	0.6280487804878049	55	0.15193370165745856	0	0.0	113	0.14907651715039577	G	1.467	-0.560725	0.03939	0.601453	0.146047	ENSG00000130943	ENST00000253255	T	0.30714	1.52	5.33	5.33	0.75918	.	0.307994	0.28398	N	0.015492	T	0.00012	0.0000	N	0.00392	-1.555	0.30026	P	0.813909	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	-28.6325	13.3236	0.60447	0.0774:0.0:0.9226:0.0	rs6519993;rs52835982;rs61529203;rs6519993	914	Q9NTG1	PKDRE_HUMAN	P	914	ENSP00000253255:L914P	ENSP00000253255:L914P	L	-	2	0	PKDREJ	45035143	1.000000	0.71417	0.965000	0.40720	0.372000	0.29890	4.073000	0.57570	1.411000	0.46957	-0.119000	0.15052	CTC	A|0.724;G|0.276	0.276	strong		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656479	A	G	46656479	3	3	22	1	0	0	0	0	1	0	0	0	11970	304	11	3	4024	3	PKDREJ	22	46656479	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	233	46656479	4648087	11019	16127										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656511	46656511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaatcacaaaacattgtagaAatgggaccatttgcagacag	8	7	1	2	rs9627324	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46656511A>G	ENST00000253255.5	-	1	2708	c.2709T>C	c.(2707-2709)atT>atC	p.I903I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	903	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		ACATTGTAGAAATGGGACCAT	0.408													A|||	1229	0.245407	0.6785	0.134	5008	,	,		21872	0.001		0.16	False		,,,				2504	0.0787				p.I903I		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T2709C						PASS	.	A		2655,1751	638.7+/-397.0	794,1067,342	97	100	99		2709	-10.7	0	22	dbSNP_119	99	1259,7341	250.5+/-277.4	88,1083,3129	no	coding-synonymous	PKDREJ	NM_006071.1		882,2150,3471	GG,GA,AA		14.6395,39.7413,30.0938		903/2254	46656511	3914,9092	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			TGTAGAAATGGGA	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.2709T>C	22.37:g.46656511A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	101	55	0.544554	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.733;G|0.267	0.267	strong		0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656511	A	G	46656511	2	3	22	1	0	0	0	0	0	0	0	1	11970	10	1	2		2	PKDREJ	22	46656511	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	32	46656511	4648055	11020	16128										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656562	46656562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctcacattgagtgttggAtaaaaacaatttctgcagtg	9	7	2	1	rs7287371	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46656562A>G	ENST00000253255.5	-	1	2657	c.2658T>C	c.(2656-2658)taT>taC	p.Y886Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	886	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		TGAGTGTTGGATAAAAACAAT	0.388													A|||	265	0.0529153	0.1899	0.0144	5008	,	,		21079	0.0		0.0	False		,,,				2504	0.0041				p.Y886Y		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T2658C						PASS	.	A		777,3629	311.9+/-292.3	72,633,1498	83	84	83		2658	-10.1	0	22	dbSNP_116	83	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	PKDREJ	NM_006071.1		72,647,5784	GG,GA,AA		0.1628,17.635,6.0818		886/2254	46656562	791,12215	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			TGTTGGATAAAAA	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.2658T>C	22.37:g.46656562A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	139	74	0.532374	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.942;G|0.058	0.058	strong		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656562	A	G	46656562	2	3	22	1	0	0	0	0	0	0	0	1	11970	340	12	2		2	PKDREJ	22	46656562	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	51	46656562	4648004	11021	16129										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656805	46656805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attagtattccagtactcacGatttctatttgttcagatcg	6	8	3	1	rs6519994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46656805G>A	ENST00000253255.5	-	1	2414	c.2415C>T	c.(2413-2415)atC>atT	p.I805I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	805	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		CAGTACTCACGATTTCTATTT	0.368													G|||	1190	0.23762	0.6505	0.1297	5008	,	,		20491	0.001		0.161	False		,,,				2504	0.0787				p.I805I		Atlas-SNP	.											PKDREJ,caecum,carcinoma,0,1	PKDREJ	195	1	0			c.C2415T						PASS	.	G		2514,1890	617.9+/-393.1	710,1094,398	66	72	70		2415	-10.2	0	22	dbSNP_116	70	1254,7346	249.2+/-276.5	88,1078,3134	no	coding-synonymous	PKDREJ	NM_006071.1		798,2172,3532	AA,AG,GG		14.5814,42.9155,28.9757		805/2254	46656805	3768,9236	2202	4300	6502	SO:0001819	synonymous_variant	10343	exon1			ACTCACGATTTCT	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.2415C>T	22.37:g.46656805G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	169	81	0.47929	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.732;A|0.268	0.268	strong		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656805	G	A	46656805	2	1	22	1	0	0	0	0	0	0	0	1	11970	1048	37	1		1	PKDREJ	22	46656805	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	243	46656805	4647761	11022	16130										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46657798	46657798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttaggaacaaagaaaatctAtcagagacaatgaagtttct	7	5	3	3	rs6007748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46657798A>G	ENST00000253255.5	-	1	1421	c.1422T>C	c.(1420-1422)gaT>gaC	p.D474D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	474	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		AAGAAAATCTATCAGAGACAA	0.393													A|||	1198	0.239217	0.6558	0.1326	5008	,	,		18300	0.001		0.16	False		,,,				2504	0.0787				p.D474D		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T1422C						PASS	.	A		2538,1868	631.6+/-395.7	719,1100,384	98	103	101		1422	-7	0	22	dbSNP_114	101	1255,7345	250.8+/-277.5	87,1081,3132	no	coding-synonymous	PKDREJ	NM_006071.1		806,2181,3516	GG,GA,AA		14.593,42.3967,29.1635		474/2254	46657798	3793,9213	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			AAATCTATCAGAG	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.1422T>C	22.37:g.46657798A>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	100	60	0.6	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.737;G|0.263	0.263	strong		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46657798	A	G	46657798	2	3	22	1	0	0	0	0	0	0	0	1	11970	446	16	2		2	PKDREJ	22	46657798	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	993	46657798	4646768	11023	16131										
TTC38	55020	hgsc.bcm.edu	37	chr22	46664431	46664431	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctggaaggatgcgaggctCccgctctccaccacaagcaa	11	15	1	0	rs9627359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46664431C>G	ENST00000381031.3	+	2	130	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TTC38_ENST00000445282.2_Silent_p.L18L	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	18						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ATGCGAGGCTCCCGCTCTCCA	0.607													C|||	743	0.148363	0.4788	0.062	5008	,	,		14364	0.001		0.0358	False		,,,				2504	0.0307				p.L18L		Atlas-SNP	.											.	TTC38	40	.	0			c.C54G						PASS	.	C		1763,2619		358,1047,786	39	49	46		54	-3.5	0.3	22	dbSNP_119	46	305,8267		2,301,3983	no	coding-synonymous	TTC38	NM_017931.2		360,1348,4769	GG,GC,CC		3.5581,40.2328,15.9642		18/470	46664431	2068,10886	2191	4286	6477	SO:0001819	synonymous_variant	55020	exon2			GAGGCTCCCGCTC		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.54C>G	22.37:g.46664431C>G		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	74	34	0.459459	NM_017931	Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	CCDS43030.1																																																																																			C|0.912;G|0.088	0.088	strong		0.607	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		G	46664431	C	G	46664431	2	3	22	1	0	0	0	0	0	0	0	1	16703	842	30	4		4	TTC38	22	46664431	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6633	46664431	4640135	11024	16132										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46709881	46709881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtttggagcggggcatccaGtgcgtgcacatccccagcag	14	12	0	0	rs6008622	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46709881G>A	ENST00000454366.1	+	6	1234	c.1022G>A	c.(1021-1023)aGt>aAt	p.S341N		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	322					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGGGCATCCAGTGCGTGCACA	0.622											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	644	0.128594	0.3192	0.0836	5008	,	,		18464	0.001		0.1223	False		,,,				2504	0.0409				p.S341N	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.G1022A						PASS	.	G	ASN/SER	1317,3089	442.5+/-346.7	207,903,1093	81	80	80		1022	0.4	0	22	dbSNP_114	80	922,7678	204.5+/-247.2	49,824,3427	yes	missense	GTSE1	NM_016426.6	46	256,1727,4520	AA,AG,GG		10.7209,29.8911,17.2151	benign	341/740	46709881	2239,10767	2203	4300	6503	SO:0001583	missense	51512	exon6			CATCCAGTGCGTG	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1022G>A	22.37:g.46709881G>A	ENSP00000415430:p.Ser341Asn	Somatic	53	0	0	941	WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	280	0.1282051282051282	151	0.30691056910569103	35	0.09668508287292818	0	0.0	94	0.12401055408970976	G	7.393	0.631216	0.14322	0.298911	0.107209	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.14144	2.53	3.78	0.429	0.16506	.	0.740024	0.12537	N	0.460234	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.18013	0.025	B	0.20955	0.032	T	0.46247	-0.9205	9	0.36615	T	0.2	-1.1845	5.9398	0.19186	0.1067:0.3771:0.5162:0.0	rs6008622;rs7284449;rs52831485;rs59709957;rs6008622	322	Q9NYZ3	GTSE1_HUMAN	N	341;301	ENSP00000415430:S341N	ENSP00000354634:S301N	S	+	2	0	GTSE1	45088545	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.164000	0.16542	0.186000	0.20125	-0.175000	0.13238	AGT	G|0.845;A|0.155	0.155	strong		0.622	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		A	46709881	G	A	46709881	3	1	22	1	0	0	0	0	1	0	0	0	6885	1029	36	2	1040	2	GTSE1	22	46709881	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	45450	46709881	4594685	11025	16133										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46719100	46719100	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacttaggtgactccccggaCagctcaacaccaaagctttc	8	14	1	1	rs6008684	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46719100C>G	ENST00000454366.1	+	8	1658	c.1446C>G	c.(1444-1446)gaC>gaG	p.D482E		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	463					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ACTCCCCGGACAGCTCAACAC	0.557													C|||	573	0.114417	0.2791	0.0692	5008	,	,		20772	0.001		0.1223	False		,,,				2504	0.0327				p.D482E	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.C1446G						PASS	.	C	GLU/ASP	1138,3268	405.8+/-333.6	152,834,1217	158	146	150		1446	-4.4	0	22	dbSNP_114	150	953,7647	208.4+/-249.9	55,843,3402	yes	missense	GTSE1	NM_016426.6	45	207,1677,4619	GG,GC,CC		11.0814,25.8284,16.0772	possibly-damaging	482/740	46719100	2091,10915	2203	4300	6503	SO:0001583	missense	51512	exon8			CCCGGACAGCTCA	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1446C>G	22.37:g.46719100C>G	ENSP00000415430:p.Asp482Glu	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	153	86	0.562092	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	263	0.12042124542124542	135	0.27439024390243905	32	0.08839779005524862	0	0.0	96	0.1266490765171504	C	4.984	0.182775	0.09495	0.258284	0.110814	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06142	3.34	3.31	-4.36	0.03645	.	1.514080	0.03735	N	0.254078	T	0.00012	0.0000	M	0.66939	2.045	0.80722	P	0.0	B;B	0.25609	0.007;0.13	B;B	0.22880	0.028;0.042	T	0.42832	-0.9428	9	0.49607	T	0.09	0.0	3.1854	0.06599	0.2794:0.2923:0.0:0.4283	rs6008684;rs6008684	463;442	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	E	482;442	ENSP00000415430:D482E	ENSP00000354634:D442E	D	+	3	2	GTSE1	45097764	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.322000	0.08007	-0.816000	0.04340	0.313000	0.20887	GAC	C|0.856;G|0.144	0.144	strong		0.557	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		G	46719100	C	G	46719100	3	3	22	1	0	0	0	0	1	0	0	0	6885	477	17	4	1472	4	GTSE1	22	46719100	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9219	46719100	4585466	11026	16134										
TRMU	55687	hgsc.bcm.edu	37	chr22	46731689	46731689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccttgcggcacgtcgtgtgcGccctgtccggcggcgtggac	16	15	0	0	rs11090865	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46731689G>T	ENST00000290846.4	+	1	368	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	TRMU_ENST00000424260.2_5'Flank|TRMU_ENST00000381019.3_Missense_Mutation_p.A10S	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	10			A -> S (decreased activity; dbSNP:rs11090865). {ECO:0000269|PubMed:16826519, ECO:0000269|PubMed:19732863}.		tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CGTCGTGTGCGCCCTGTCCGG	0.751													G|||	529	0.105631	0.2436	0.0692	5008	,	,		10046	0.001		0.1223	False		,,,				2504	0.0358				p.A10S		Atlas-SNP	.											.	TRMU	23	.	0			c.G28T	GRCh37	CM063224	TRMU	M	rs11090865	PASS	.	G	SER/ALA	847,3317		81,685,1316	7	9	8	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	28	4.5	1	22	dbSNP_120	8	805,7339		37,731,3304	yes	missense	TRMU	NM_018006.4	99	118,1416,4620	TT,TG,GG		9.8846,20.341,13.4222	probably-damaging	10/422	46731689	1652,10656	2082	4072	6154	SO:0001583	missense	55687	exon1			GTGTGCGCCCTGT	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.28G>T	22.37:g.46731689G>T	ENSP00000290846:p.Ala10Ser	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	36	21	0.583333	NM_018006	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	CCDS14075.1	237	0.10851648351648352	111	0.22560975609756098	32	0.08839779005524862	0	0.0	94	0.12401055408970976	G	34	5.364808	0.95877	0.20341	0.098846	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.68479	-0.33;-0.33	4.49	4.49	0.54785	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.00178	0.0005	H	0.94345	3.525	0.09310	P	1.0	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.981;0.968;0.994	T	0.02437	-1.1159	9	0.87932	D	0	-6.6109	16.1042	0.81209	0.0:0.0:1.0:0.0	rs11090865;rs11090865	10;10;10	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	S	10	ENSP00000290846:A10S;ENSP00000370407:A10S	ENSP00000290846:A10S	A	+	1	0	TRMU	45110353	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.674000	0.83992	2.308000	0.77769	0.467000	0.42956	GCC	G|0.890;T|0.110	0.110	strong		0.751	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		T	46731689	G	T	46731689	3	4	22	1	0	0	0	0	1	0	0	0	16568	1087	38	4	30	4	TRMU	22	46731689	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	12589	46731689	4572877	11027	16135										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46760037	46760037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcccagggaagacgtgcgcGaggatgtggggctctgctca	17	10	2	1	rs375307146|rs6008777	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46760037G>A	ENST00000262738.3	-	34	8890	c.8891C>T	c.(8890-8892)tCg>tTg	p.S2964L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2964			S -> L (in NTD; shows reduced protein localization to the cell membrane; dbSNP:rs6008777). {ECO:0000269|PubMed:22095531}.		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGTGCGCGAGGATGTGGG	0.682													G|||	116	0.0231629	0.0832	0.0086	5008	,	,		14793	0.0		0.0	False		,,,				2504	0.0				p.S2964L		Atlas-SNP	.											CELSR1,colon,carcinoma,+1,1	CELSR1	242	1	0			c.C8891T						PASS	.	G	LEU/SER	399,4005	190.2+/-216.2	29,341,1832	40	46	44		8891	4.8	0.1	22	dbSNP_114	44	4,8594	3.0+/-9.4	0,4,4295	yes	missense	CELSR1	NM_014246.1	145	29,345,6127	AA,AG,GG		0.0465,9.0599,3.0995	probably-damaging	2964/3015	46760037	403,12599	2202	4299	6501	SO:0001583	missense	9620	exon34			GTGCGCGAGGATG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8891C>T	22.37:g.46760037G>A	ENSP00000262738:p.Ser2964Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	159	85	0.534591	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	37	0.01694139194139194	35	0.07113821138211382	2	0.0055248618784530384	0	0.0	0	0.0	G	14.11	2.438063	0.43326	0.090599	4.65E-4	ENSG00000075275	ENST00000262738	T	0.71579	-0.58	4.85	4.85	0.62838	.	0.000000	0.36374	U	0.002632	T	0.11367	0.0277	M	0.74258	2.255	0.37738	D	0.925504	D	0.67145	0.996	P	0.47786	0.557	T	0.57046	-0.7878	10	0.33141	T	0.24	.	17.569	0.87930	0.0:0.0:1.0:0.0	rs6008777	2964	Q9NYQ6	CELR1_HUMAN	L	2964	ENSP00000262738:S2964L	ENSP00000262738:S2964L	S	-	2	0	CELSR1	45138701	0.994000	0.37717	0.060000	0.19600	0.011000	0.07611	3.602000	0.54066	2.211000	0.71520	0.563000	0.77884	TCG	G|0.971;A|0.029	0.029	strong		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46760037	G	A	46760037	3	1	22	1	0	0	0	0	1	0	0	0	3221	1059	37	1	161	1	CELSR1	22	46760037	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28348	46760037	4544529	11028	16136										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46760086	46760086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagcttctcccggagccggcCcttcagcgtctgctccgtca	10	18	4	0	rs35364389	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46760086C>T	ENST00000262738.3	-	34	8841	c.8842G>A	c.(8842-8844)Ggc>Agc	p.G2948S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2948			G -> S (in dbSNP:rs35364389).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGAGCCGGCCCTTCAGCGTC	0.642													C|||	899	0.179513	0.4576	0.1081	5008	,	,		15696	0.002		0.166	False		,,,				2504	0.0511				p.G2948S		Atlas-SNP	.											.	CELSR1	242	.	0			c.G8842A						PASS	.	C	SER/GLY	1704,2700	465.1+/-354.1	337,1030,835	39	47	44		8842	-0.1	0.3	22	dbSNP_126	44	1241,7351	234.4+/-267.4	87,1067,3142	yes	missense	CELSR1	NM_014246.1	56	424,2097,3977	TT,TC,CC		14.4437,38.6921,22.6608	benign	2948/3015	46760086	2945,10051	2202	4296	6498	SO:0001583	missense	9620	exon34			GCCGGCCCTTCAG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8842G>A	22.37:g.46760086C>T	ENSP00000262738:p.Gly2948Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	74	38	0.513514	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	390	0.17857142857142858	218	0.44308943089430897	46	0.1270718232044199	3	0.005244755244755245	123	0.16226912928759896	C	8.608	0.888398	0.17540	0.386921	0.144437	ENSG00000075275	ENST00000262738	T	0.65549	-0.16	4.85	-0.0792	0.13711	.	5.751230	0.01890	N	0.038451	T	0.00012	0.0000	N	0.02011	-0.69	0.09310	P	0.999999999478815	B	0.12630	0.006	B	0.04013	0.001	T	0.31052	-0.9957	9	0.02654	T	1	.	4.0661	0.09861	0.3067:0.2609:0.0:0.4324	rs35364389;rs59097028	2948	Q9NYQ6	CELR1_HUMAN	S	2948	ENSP00000262738:G2948S	ENSP00000262738:G2948S	G	-	1	0	CELSR1	45138750	1.000000	0.71417	0.252000	0.24328	0.974000	0.67602	2.559000	0.45888	-0.074000	0.12820	0.563000	0.77884	GGC	C|0.794;T|0.206	0.206	strong		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46760086	C	T	46760086	3	4	22	1	0	0	0	0	1	0	0	0	3221	623	22	2	210	2	CELSR1	22	46760086	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	49	46760086	4544480	11029	16137										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46760102	46760102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcccttcagcgtctgctcCgtcagcgtcagcggcggcgg	15	16	4	0	rs6008778	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46760102C>T	ENST00000262738.3	-	34	8825	c.8826G>A	c.(8824-8826)acG>acA	p.T2942T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2942					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGTCTGCTCCGTCAGCGTCA	0.662													C|||	272	0.0543131	0.1974	0.013	5008	,	,		15944	0.0		0.001	False		,,,				2504	0.001				p.T2942T		Atlas-SNP	.											.	CELSR1	242	.	0			c.G8826A						PASS	.	C		761,3639		66,629,1505	38	47	44		8826	-1.3	0.3	22	dbSNP_114	44	18,8570		0,18,4276	no	coding-synonymous	CELSR1	NM_014246.1		66,647,5781	TT,TC,CC		0.2096,17.2955,5.9978		2942/3015	46760102	779,12209	2200	4294	6494	SO:0001819	synonymous_variant	9620	exon34			CTGCTCCGTCAGC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8826G>A	22.37:g.46760102C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			C|0.948;T|0.052	0.052	strong		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46760102	C	T	46760102	2	4	22	1	0	0	0	0	0	0	0	1	3221	639	23	1		1	CELSR1	22	46760102	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16	46760102	4544464	11030	16138										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46760481	46760481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctggtccggggggtactCtccacggtgactgccctgct	13	15	1	1	rs9615351	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46760481C>G	ENST00000262738.3	-	33	8706	c.8707G>C	c.(8707-8709)Gag>Cag	p.E2903Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2903			E -> Q (in dbSNP:rs9615351).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGGGTACTCTCCACGGTGA	0.687													C|||	1203	0.240216	0.5492	0.1816	5008	,	,		16369	0.005		0.2455	False		,,,				2504	0.1012				p.E2903Q		Atlas-SNP	.											CELSR1,NS,carcinoma,0,1	CELSR1	242	1	0			c.G8707C						PASS	.	C	GLN/GLU	2305,2093	560.8+/-380.6	594,1117,488	31	36	34		8707	-1.8	0	22	dbSNP_119	34	2074,6516	337.7+/-322.4	228,1618,2449	yes	missense	CELSR1	NM_014246.1	29	822,2735,2937	GG,GC,CC		24.1444,47.5898,33.7157	possibly-damaging	2903/3015	46760481	4379,8609	2199	4295	6494	SO:0001583	missense	9620	exon33			GGTACTCTCCACG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8707G>C	22.37:g.46760481C>G	ENSP00000262738:p.Glu2903Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	100	99	0.99	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	515	0.2358058608058608	265	0.5386178861788617	73	0.20165745856353592	1	0.0017482517482517483	176	0.23218997361477572	C	11.43	1.635840	0.29068	0.524102	0.241444	ENSG00000075275	ENST00000262738	T	0.70516	-0.49	3.64	-1.76	0.08006	.	0.482328	0.14430	U	0.320053	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	P	0.39665	0.682	B	0.38428	0.273	T	0.43065	-0.9414	9	0.21540	T	0.41	.	2.3608	0.04307	0.1521:0.5191:0.1482:0.1806	rs9615351;rs60150914	2903	Q9NYQ6	CELR1_HUMAN	Q	2903	ENSP00000262738:E2903Q	ENSP00000262738:E2903Q	E	-	1	0	CELSR1	45139145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.527000	0.22987	-0.226000	0.09899	-0.251000	0.11542	GAG	C|0.700;G|0.300	0.300	strong		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46760481	C	G	46760481	3	3	22	1	0	0	0	0	1	0	0	0	3221	922	32	4	349	4	CELSR1	22	46760481	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	379	46760481	4544085	11031	16139										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46761135	46761135	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cccacacactcacctttgggGgtgctgtggacggcgcccct	12	16	1	0	rs9627424	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46761135G>T	ENST00000262738.3	-	32	8546	c.8547C>A	c.(8545-8547)acC>acA	p.T2849T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2849					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACCTTTGGGGGTGCTGTGGA	0.652													G|||	441	0.0880591	0.3177	0.0259	5008	,	,		17157	0.001		0.001	False		,,,				2504	0.001				p.T2849T		Atlas-SNP	.											.	CELSR1	242	.	0			c.C8547A						PASS	.	G		1269,3107	414.6+/-336.9	175,919,1094	28	27	27		8547	4.9	1	22	dbSNP_119	27	26,8564	16.6+/-54.9	0,26,4269	no	coding-synonymous	CELSR1	NM_014246.1		175,945,5363	TT,TG,GG		0.3027,28.9991,9.9877		2849/3015	46761135	1295,11671	2188	4295	6483	SO:0001819	synonymous_variant	9620	exon32			TTTGGGGGTGCTG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8547C>A	22.37:g.46761135G>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			G|0.911;T|0.089	0.089	strong		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46761135	G	T	46761135	2	4	22	1	0	0	0	0	0	0	0	1	3221	1219	43	4		4	CELSR1	22	46761135	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	654	46761135	4543431	11032	16140										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46761497	46761497	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccataccagggggatccttgCagctcctgggcatgagggac	14	12	0	1	rs12165943	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46761497C>G	ENST00000262738.3	-	31	8389	c.8390G>C	c.(8389-8391)tGc>tCc	p.C2797S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2797			C -> S (in dbSNP:rs12165943).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGATCCTTGCAGCTCCTGGG	0.637													G|||	1525	0.304513	0.848	0.1715	5008	,	,		12450	0.003		0.2187	False		,,,				2504	0.0634				p.C2797S		Atlas-SNP	.											.	CELSR1	242	.	0			c.G8390C						PASS	.	G	SER/CYS	3221,1131		1203,815,158	22	24	23		8390	1.9	0	22	dbSNP_120	23	1720,6856		159,1402,2727	yes	missense	CELSR1	NM_014246.1	112	1362,2217,2885	GG,GC,CC		20.056,25.9881,38.2194	benign	2797/3015	46761497	4941,7987	2176	4288	6464	SO:0001583	missense	9620	exon31			TCCTTGCAGCTCC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8390G>C	22.37:g.46761497C>G	ENSP00000262738:p.Cys2797Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	100	99	0.99	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	641	0.2934981684981685	410	0.8333333333333334	72	0.19889502762430938	1	0.0017482517482517483	158	0.20844327176781002	G	0.007	-1.966069	0.00461	0.740119	0.20056	ENSG00000075275	ENST00000262738	T	0.65178	-0.14	4.23	1.89	0.25635	.	1.869630	0.03427	N	0.207180	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.39251	-0.9623	9	0.08837	T	0.75	.	12.3882	0.55345	0.0:0.4886:0.5114:0.0	rs12165943;rs12165943	2797	Q9NYQ6	CELR1_HUMAN	S	2797	ENSP00000262738:C2797S	ENSP00000262738:C2797S	C	-	2	0	CELSR1	45140161	0.046000	0.20272	0.029000	0.17559	0.005000	0.04900	0.107000	0.15375	0.357000	0.24183	-0.647000	0.03941	TGC	C|0.641;G|0.359	0.359	strong		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46761497	C	G	46761497	3	3	22	1	0	0	0	0	1	0	0	0	3221	710	25	4	674	4	CELSR1	22	46761497	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	362	46761497	4543069	11033	16141										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46763671	46763671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtagtgaaagctcagtgcAtcgcggttcacagccagcag	13	10	2	1	rs7285515	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46763671A>G	ENST00000262738.3	-	28	8033	c.8034T>C	c.(8032-8034)gaT>gaC	p.D2678D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2678					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCTCAGTGCATCGCGGTTCA	0.652											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	1122	0.224042	0.6664	0.1167	5008	,	,		18026	0.002		0.1292	False		,,,				2504	0.0286				p.D2678D		Atlas-SNP	.											.	CELSR1	242	.	0			c.T8034C						PASS	.			2540,1854		724,1092,381	41	36	38		8034	1.5	0.2	22	dbSNP_116	38	1049,7547		62,925,3311	no	coding-synonymous	CELSR1	NM_014246.1		786,2017,3692	GG,GA,AA		12.2034,42.1939,27.6289		2678/3015	46763671	3589,9401	2197	4298	6495	SO:0001819	synonymous_variant	9620	exon28			CAGTGCATCGCGG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8034T>C	22.37:g.46763671A>G		Somatic	207	0	0	941	WXS	Illumina HiSeq	Phase_I	195	195	1	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			A|0.740;G|0.260	0.260	strong		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46763671	A	G	46763671	2	3	22	1	0	0	0	0	0	0	0	1	3221	214	8	2		2	CELSR1	22	46763671	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2174	46763671	4540895	11034	16142										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46777896	46777896	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcggtgccaggccccgggCgcgtggtctgcggggtggtc	19	13	2	0	rs7287089	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46777896C>G	ENST00000262738.3	-	21	6934	c.6935G>C	c.(6934-6936)cGc>cCc	p.R2312P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2312			R -> P (does not affect protein localization to the cell membrane; dbSNP:rs7287089). {ECO:0000269|PubMed:22095531}.		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGCCCCGGGCGCGTGGTCTG	0.682													.|||	85	0.0169728	0.0605	0.0072	5008	,	,		12386	0.0		0.0	False		,,,				2504	0.0				p.R2312P		Atlas-SNP	.											.	CELSR1	242	.	0			c.G6935C						PASS	.	C	PRO/ARG	163,4111		1,161,1975	8	9	9		6935	-3.2	0	22	dbSNP_116	9	2,8374		0,2,4186	no	missense	CELSR1	NM_014246.1	103	1,163,6161	GG,GC,CC		0.0239,3.8138,1.3043	benign	2312/3015	46777896	165,12485	2137	4188	6325	SO:0001583	missense	9620	exon21			CCCGGGCGCGTGG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6935G>C	22.37:g.46777896C>G	ENSP00000262738:p.Arg2312Pro	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	29	12	0.413793	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	32	0.014652014652014652	31	0.06300813008130081	1	0.0027624309392265192	0	0.0	0	0.0	C	9.166	1.020045	0.19433	0.038138	2.39E-4	ENSG00000075275	ENST00000262738	T	0.67698	-0.28	4.89	-3.18	0.05186	Domain of unknown function DUF3497 (1);	1.362770	0.05247	N	0.513271	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.002	T	0.04413	-1.0953	10	0.20519	T	0.43	.	3.427	0.07414	0.1112:0.33:0.384:0.1748	rs7287089	633;2312	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	P	2312	ENSP00000262738:R2312P	ENSP00000262738:R2312P	R	-	2	0	CELSR1	45156560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.121000	0.03270	-0.119000	0.11830	0.555000	0.69702	CGC	C|0.985;G|0.015	0.015	strong		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46777896	C	G	46777896	3	3	22	1	0	0	0	0	1	0	0	0	3221	768	27	4	2169	4	CELSR1	22	46777896	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14225	46777896	4526670	11035	16143										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46786315	46786315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctgaggtccacgaaggagaTggtggtacagttaaagagct	14	7	0	3	rs4044210	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46786315T>C	ENST00000262738.3	-	17	6318	c.6319A>G	c.(6319-6321)Atc>Gtc	p.I2107V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2107			I -> V (in dbSNP:rs4044210).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGAAGGAGATGGTGGTACAG	0.602											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1385	0.276558	0.7315	0.1412	5008	,	,		17117	0.0179		0.163	False		,,,				2504	0.1411				p.I2107V		Atlas-SNP	.											.	CELSR1	242	.	0			c.A6319G						PASS	.	T	VAL/ILE	2851,1555	656.2+/-400.0	913,1025,265	68	61	63		6319	-2.9	0	22	dbSNP_108	63	1380,7220	265.0+/-285.9	90,1200,3010	yes	missense	CELSR1	NM_014246.1	29	1003,2225,3275	CC,CT,TT		16.0465,35.2928,32.5311	benign	2107/3015	46786315	4231,8775	2203	4300	6503	SO:0001583	missense	9620	exon17			AGGAGATGGTGGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6319A>G	22.37:g.46786315T>C	ENSP00000262738:p.Ile2107Val	Somatic	72	0	0	941	WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	541	0.24771062271062272	355	0.7215447154471545	54	0.14917127071823205	9	0.015734265734265736	123	0.16226912928759896	T	1.740	-0.491935	0.04322	0.647072	0.160465	ENSG00000075275	ENST00000262738	T	0.66995	-0.24	4.34	-2.9	0.05648	GPCR, family 2, extracellular hormone receptor domain (2);	1.387560	0.05247	N	0.513246	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B	0.14012	0.009;0.0	B;B	0.17098	0.017;0.006	T	0.42515	-0.9447	9	0.17832	T	0.49	.	1.6957	0.02861	0.1714:0.3139:0.1045:0.4102	rs4044210;rs60899189;rs4044210	428;2107	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	V	2107	ENSP00000262738:I2107V	ENSP00000262738:I2107V	I	-	1	0	CELSR1	45164979	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.005000	0.03674	-0.298000	0.08921	-0.177000	0.13119	ATC	T|0.693;C|0.307	0.307	strong		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		C	46786315	T	C	46786315	3	2	22	1	0	0	0	0	1	0	0	0	3221	1464	51	2	2801	2	CELSR1	22	46786315	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8419	46786315	4518251	11036	16144										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46787694	46787694	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagacaggtgtcctgggctAggagcttgtagtaattctcc					rs6008794	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46787694A>G	ENST00000262738.3	-	15	5983	c.5984T>C	c.(5983-5985)cTa>cCa	p.L1995P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1995	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		L -> P (in dbSNP:rs6008794).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCCTGGGCTAGGAGCTTGTA	0.637													G|||	1377	0.27496	0.7413	0.1398	5008	,	,		16398	0.0129		0.159	False		,,,				2504	0.1299				p.L1995P		Atlas-SNP	.											.	CELSR1	242	.	0			c.T5984C						PASS	.	G	PRO/LEU	2860,1544		955,950,297	26	35	32		5984	3.4	0.7	22	dbSNP_114	32	1210,7390		77,1056,3167	yes	missense	CELSR1	NM_014246.1	98	1032,2006,3464	GG,GA,AA		14.0698,35.059,31.2981	benign	1995/3015	46787694	4070,8934	2202	4300	6502	SO:0001583	missense	9620	exon15			TGGGCTAGGAGCT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5984T>C	22.37:g.46787694A>G	ENSP00000262738:p.Leu1995Pro	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	537	0.24587912087912087	359	0.7296747967479674	53	0.1464088397790055	7	0.012237762237762238	118	0.15567282321899736	G	0.013	-1.617194	0.00828	0.64941	0.140698	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.52	3.4	0.38934	.	0.295595	0.27486	N	0.019156	T	0.00012	0.0000	N	0.01454	-0.855	0.24745	P	0.99301956	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41716	-0.9493	9	0.14656	T	0.56	.	7.2011	0.25881	0.1006:0.0:0.6132:0.2863	rs6008794;rs7290897;rs57574545;rs6008794	316;1995	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	P	1995	ENSP00000262738:L1995P	ENSP00000262738:L1995P	L	-	2	0	CELSR1	45166358	0.995000	0.38212	0.720000	0.30636	0.016000	0.09150	2.771000	0.47670	0.924000	0.37069	-0.355000	0.07637	CTA	A|0.696;G|0.304	0.304	strong		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46787694	A	G	46787694	3	3	22	1	0	0	0	0	1	0	0	0	3221	420	15	3	3144	3	CELSR1	22	46787694	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1379	46787694	4516872	11037	16145	346	2								
CELSR1	9620	hgsc.bcm.edu	37	chr22	46787697	46787697	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaggtgtcctgggctaggAgcttgtagtaattctcctgc					rs6008795	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46787697A>G	ENST00000262738.3	-	15	5980	c.5981T>C	c.(5980-5982)cTc>cCc	p.L1994P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1994	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		L -> P (in dbSNP:rs6008795).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGGGCTAGGAGCTTGTAGTA	0.637													G|||	996	0.198882	0.475	0.1153	5008	,	,		16332	0.001		0.159	False		,,,				2504	0.1299				p.L1994P		Atlas-SNP	.											.	CELSR1	242	.	0			c.T5981C						PASS	.	G	PRO/LEU	1735,2669		364,1007,831	26	34	31		5981	3.5	1	22	dbSNP_114	31	1185,7415		75,1035,3190	yes	missense	CELSR1	NM_014246.1	98	439,2042,4021	GG,GA,AA		13.7791,39.396,22.4546	benign	1994/3015	46787697	2920,10084	2202	4300	6502	SO:0001583	missense	9620	exon15			GCTAGGAGCTTGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5981T>C	22.37:g.46787697A>G	ENSP00000262738:p.Leu1994Pro	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	387	0.1771978021978022	225	0.4573170731707317	43	0.11878453038674033	1	0.0017482517482517483	118	0.15567282321899736	G	0.012	-1.661256	0.00772	0.39396	0.137791	ENSG00000075275	ENST00000262738	T	0.70399	-0.48	4.52	3.5	0.40072	.	0.000000	0.64402	N	0.000002	T	0.00012	0.0000	N	0.00256	-1.76	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42292	-0.9460	9	0.02654	T	1	.	10.5204	0.44916	0.1619:0.0:0.8381:0.0	rs6008795;rs7290902;rs61043581;rs6008795	315;1994	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	P	1994	ENSP00000262738:L1994P	ENSP00000262738:L1994P	L	-	2	0	CELSR1	45166361	1.000000	0.71417	0.978000	0.43139	0.018000	0.09664	6.135000	0.71696	0.379000	0.24794	-0.355000	0.07637	CTC	A|0.783;G|0.217	0.217	strong		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46787697	A	G	46787697	3	3	22	1	0	0	0	0	1	0	0	0	3221	304	11	3	3147	3	CELSR1	22	46787697	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	46787697	4516869	11038	16146	346	2								
CELSR1	9620	hgsc.bcm.edu	37	chr22	46805007	46805007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagagatgatgatgttcagGtcactccaggacacgacgct	11	10	2	3	rs35717986	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46805007G>A	ENST00000262738.3	-	9	5111	c.5112C>T	c.(5110-5112)gaC>gaT	p.D1704D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1704	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGATGTTCAGGTCACTCCAGG	0.627													G|||	562	0.11222	0.3192	0.0576	5008	,	,		16776	0.0		0.0666	False		,,,				2504	0.0337				p.D1704D		Atlas-SNP	.											.	CELSR1	242	.	0			c.C5112T						PASS	.	G		1173,3233	409.1+/-334.9	151,871,1181	97	87	90		5112	0.7	1	22	dbSNP_126	90	480,8120	140.0+/-196.6	10,460,3830	no	coding-synonymous	CELSR1	NM_014246.1		161,1331,5011	AA,AG,GG		5.5814,26.6228,12.7095		1704/3015	46805007	1653,11353	2203	4300	6503	SO:0001819	synonymous_variant	9620	exon9			GTTCAGGTCACTC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5112C>T	22.37:g.46805007G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	41	0.460674	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			G|0.882;A|0.118	0.118	strong		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46805007	G	A	46805007	2	1	22	1	0	0	0	0	0	0	0	1	3221	1252	44	2		2	CELSR1	22	46805007	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	17310	46805007	4499559	11039	16147										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46859701	46859701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagtagcagaggtcgatctcCgtctcgcagtagtcgccggt	14	11	2	1	rs140328042	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46859701C>T	ENST00000262738.3	-	2	4085	c.4086G>A	c.(4084-4086)acG>acA	p.T1362T	CELSR1_ENST00000395964.1_Silent_p.T1362T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1362					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCGATCTCCGTCTCGCAGT	0.692													C|||	11	0.00219649	0.0083	0.0	5008	,	,		13548	0.0		0.0	False		,,,				2504	0.0				p.T1362T		Atlas-SNP	.											.	CELSR1	242	.	0			c.G4086A						PASS	.	C		37,4357		0,37,2160	33	33	33		4086	-9.5	0.7	22	dbSNP_134	33	0,8594		0,0,4297	no	coding-synonymous	CELSR1	NM_014246.1		0,37,6457	TT,TC,CC		0.0,0.8421,0.2849		1362/3015	46859701	37,12951	2197	4297	6494	SO:0001819	synonymous_variant	9620	exon2			GATCTCCGTCTCG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4086G>A	22.37:g.46859701C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	58	27	0.465517	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960317	0.18507	0.008421	0.0	ENSG00000075275	ENST00000454637	.	.	.	4.75	-9.49	0.00587	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	.	1.2491	0.01978	0.1999:0.3436:0.1613:0.2952	.	.	.	.	Q	737	.	.	R	-	2	0	CELSR1	45238365	0.000000	0.05858	0.651000	0.29564	0.922000	0.55478	-3.266000	0.00534	-2.191000	0.00756	-0.892000	0.02923	CGG	C|0.997;T|0.003	0.003	strong		0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46859701	C	T	46859701	2	4	22	1	0	0	0	0	0	0	0	1	3221	639	23	1		1	CELSR1	22	46859701	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	54694	46859701	4444865	11040	16148										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46860088	46860088	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccttggtggtggacagcacGgcggccaccccctccacgaa	12	16	0	0	rs3747251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46860088G>C	ENST00000262738.3	-	2	3698	c.3699C>G	c.(3697-3699)gcC>gcG	p.A1233A	CELSR1_ENST00000395964.1_Silent_p.A1233A	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1233					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGACAGCACGGCGGCCACCC	0.612													C|||	974	0.194489	0.4894	0.0692	5008	,	,		17384	0.1944		0.0308	False		,,,				2504	0.0532				p.A1233A		Atlas-SNP	.											CELSR1,NS,carcinoma,0,1	CELSR1	242	1	0			c.C3699G						PASS	.	C		1802,2604	637.5+/-396.8	365,1072,766	74	66	69		3699	-4.8	0.9	22	dbSNP_107	69	207,8393	808.2+/-407.2	4,199,4097	no	coding-synonymous	CELSR1	NM_014246.1		369,1271,4863	CC,CG,GG		2.407,40.8988,15.4467		1233/3015	46860088	2009,10997	2203	4300	6503	SO:0001819	synonymous_variant	9620	exon2			CAGCACGGCGGCC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3699C>G	22.37:g.46860088G>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	109	108	0.990826	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1	367	0.16804029304029305	212	0.43089430894308944	18	0.049723756906077346	119	0.20804195804195805	18	0.023746701846965697	C	8.876	0.950443	0.18431	0.408988	0.02407	ENSG00000075275	ENST00000454637	.	.	.	4.75	-4.79	0.03200	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999997367	.	.	.	.	.	.	T	0.43540	-0.9385	3	.	.	.	.	6.1532	0.20322	0.3008:0.1794:0.4523:0.0675	rs3747251;rs3747251	.	.	.	R	608	.	.	P	-	2	0	CELSR1	45238752	0.000000	0.05858	0.897000	0.35233	0.965000	0.64279	-4.855000	0.00177	-0.979000	0.03529	-0.120000	0.15030	CCG	G|0.840;C|0.160	0.160	strong		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		C	46860088	G	C	46860088	2	2	22	1	0	0	0	0	0	0	0	1	3221	1103	39	4		4	CELSR1	22	46860088	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	387	46860088	4444478	11041	16149										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46932079	46932079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggtggccgagcgcggcggcGtactgtagtccacggctttc	16	12	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:46932079G>A	ENST00000262738.3	-	1	988	c.989C>T	c.(988-990)aCg>aTg	p.T330M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.T330M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	330	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGCGGCGGCGTACTGTAGTC	0.647																																					p.T330M		Atlas-SNP	.											.	CELSR1	242	.	0			c.C989T						PASS	.						116	95	102					22																	46932079		2201	4300	6501	SO:0001583	missense	9620	exon1			GGCGGCGTACTGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.989C>T	22.37:g.46932079G>A	ENSP00000262738:p.Thr330Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	89	45	0.505618	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109044	0.06924	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01838	4.61;4.61	4.32	-0.683	0.11335	Cadherin (4);Cadherin-like (1);	0.310145	0.26203	U	0.025732	T	0.01800	0.0057	L	0.35854	1.095	0.09310	N	0.999999	P	0.34522	0.455	B	0.32805	0.153	T	0.48305	-0.9047	10	0.32370	T	0.25	.	6.6282	0.22841	0.1613:0.2739:0.5649:0.0	.	330	Q9NYQ6	CELR1_HUMAN	M	330	ENSP00000262738:T330M;ENSP00000379293:T330M	ENSP00000262738:T330M	T	-	2	0	CELSR1	45310743	0.376000	0.25098	0.741000	0.31004	0.009000	0.06853	3.037000	0.49775	-0.001000	0.14495	-0.391000	0.06502	ACG	.	.	none		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46932079	G	A	46932079	3	1	22	1	0	0	0	0	1	0	0	0	3221	1145	40	1	8195	1	CELSR1	22	46932079	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71991	46932079	4372487	11042	16150										
BRD1	23774	hgsc.bcm.edu	37	chr22	50217387	50217387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcgcagtgcgactccttctcGaagcggtccatcaggaactc	10	14	2	0	rs11912787	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50217387G>A	ENST00000216267.8	-	1	1065	c.579C>T	c.(577-579)ttC>ttT	p.F193F	BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Silent_p.F193F|BRD1_ENST00000404760.1_Silent_p.F193F|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Silent_p.F193F|BRD1_ENST00000459821.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	193					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACTCCTTCTCGAAGCGGTCCA	0.602													G|||	508	0.101438	0.1664	0.0432	5008	,	,		21111	0.003		0.0746	False		,,,				2504	0.184				p.F193F		Atlas-SNP	.											.	BRD1	144	.	0			c.C579T						PASS	.	G		801,3605	322.9+/-297.8	69,663,1471	72	61	65		579	-5.2	1	22	dbSNP_120	65	702,7898	172.6+/-223.3	31,640,3629	no	coding-synonymous	BRD1	NM_014577.1		100,1303,5100	AA,AG,GG		8.1628,18.1798,11.5562		193/1059	50217387	1503,11503	2203	4300	6503	SO:0001819	synonymous_variant	23774	exon1			CTTCTCGAAGCGG	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.579C>T	22.37:g.50217387G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_014577	A6ZJA4	Silent	SNP	ENST00000216267.8	37	CCDS14080.1																																																																																			G|0.899;A|0.101	0.101	strong		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		A	50217387	G	A	50217387	2	1	22	1	0	0	0	0	0	0	0	1	1501	1049	37	1		1	BRD1	22	50217387	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3285308	50217387	1087179	11043	16151										
ZBED4	9889	hgsc.bcm.edu	37	chr22	50278588	50278588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ataggggaggcctcggcgtcCtctcctgagaagcagcaggc	15	12	1	1	rs61731526	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50278588C>T	ENST00000216268.5	+	2	1755	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	426						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGGCGTCCTCTCCTGAGA	0.532													C|||	23	0.00459265	0.0159	0.0029	5008	,	,		19928	0.0		0.0	False		,,,				2504	0.0				p.S426S		Atlas-SNP	.											.	ZBED4	102	.	0			c.C1278T						PASS	.	C		44,4362	40.8+/-73.8	0,44,2159	59	63	62		1278	-0.5	0.3	22	dbSNP_129	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZBED4	NM_014838.2		0,46,6457	TT,TC,CC		0.0233,0.9986,0.3537		426/1172	50278588	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	9889	exon2			GGCGTCCTCTCCT	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1278C>T	22.37:g.50278588C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	55	19	0.345455	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	CCDS33677.1																																																																																			C|0.996;T|0.004	0.004	strong		0.532	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50278588	C	T	50278588	2	4	22	1	0	0	0	0	0	0	0	1	17517	668	24	2		2	ZBED4	22	50278588	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	61201	50278588	1025978	11044	16152										
ZBED4	9889	hgsc.bcm.edu	37	chr22	50279749	50279749	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcaccgacaacgccagcatCgggaagacgctgaacgaggg	14	12	1	2	rs61731524	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50279749C>T	ENST00000216268.5	+	2	2916	c.2439C>T	c.(2437-2439)atC>atT	p.I813I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	813						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCCAGCATCGGGAAGACGC	0.617													C|||	18	0.00359425	0.0083	0.0029	5008	,	,		19867	0.0		0.0	False		,,,				2504	0.0051				p.I813I		Atlas-SNP	.											.	ZBED4	102	.	0			c.C2439T						PASS	.	C		14,4392	20.2+/-43.8	0,14,2189	38	38	38		2439	-9.5	0.2	22	dbSNP_129	38	0,8598		0,0,4299	no	coding-synonymous	ZBED4	NM_014838.2		0,14,6488	TT,TC,CC		0.0,0.3177,0.1077		813/1172	50279749	14,12990	2203	4299	6502	SO:0001819	synonymous_variant	9889	exon2			CAGCATCGGGAAG	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2439C>T	22.37:g.50279749C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	72	28	0.388889	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	CCDS33677.1																																																																																			C|0.998;T|0.002	0.002	strong		0.617	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50279749	C	T	50279749	2	4	22	1	0	0	0	0	0	0	0	1	17517	874	31	1		1	ZBED4	22	50279749	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1161	50279749	1024817	11045	16153										
ZBED4	9889	hgsc.bcm.edu	37	chr22	50280688	50280688	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agatttttgggctgccccccAagcatcgtcccttcagaaaa	8	13	1	2	rs9627781	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50280688A>C	ENST00000216268.5	+	2	3855	c.3378A>C	c.(3376-3378)ccA>ccC	p.P1126P		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1126						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCCCCCCAAGCATCGTCC	0.537													A|||	286	0.0571086	0.1732	0.0173	5008	,	,		18451	0.0377		0.001	False		,,,				2504	0.0061				p.P1126P		Atlas-SNP	.											.	ZBED4	102	.	0			c.A3378C						PASS	.	A		675,3731	254.6+/-260.1	51,573,1579	50	48	49		3378	-10.4	0.1	22	dbSNP_119	49	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	ZBED4	NM_014838.2		51,576,5876	CC,CA,AA		0.0349,15.32,5.213		1126/1172	50280688	678,12328	2203	4300	6503	SO:0001819	synonymous_variant	9889	exon2			CCCCCCAAGCATC	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3378A>C	22.37:g.50280688A>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	CCDS33677.1																																																																																			A|0.939;C|0.061	0.061	strong		0.537	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		C	50280688	A	C	50280688	2	2	22	1	0	0	0	0	0	0	0	1	17517	117	5	5		5	ZBED4	22	50280688	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	939	50280688	1023878	11046	16154										
CRELD2	79174	hgsc.bcm.edu	37	chr22	50315363	50315363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgcactgactgcatggaCggctacttcagctcgctccg	11	14	1	1	rs8139422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50315363C>A	ENST00000328268.4	+	5	620	c.546C>A	c.(544-546)gaC>gaA	p.D182E	CRELD2_ENST00000403427.3_Missense_Mutation_p.D182E|CRELD2_ENST00000404488.3_Missense_Mutation_p.D182E|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.D182E	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	182			D -> E (in dbSNP:rs8139422).			endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGCATGGACGGCTACTTCA	0.677													C|||	1012	0.202077	0.5545	0.0634	5008	,	,		18641	0.0744		0.0288	False		,,,				2504	0.1339				p.D182E		Atlas-SNP	.											CRELD2_ENST00000404488,NS,lymphoid_neoplasm,+2,6	CRELD2	57	6	0			c.C546A						PASS	.	C	GLU/ASP,GLU/ASP	2180,2226	580.3+/-385.1	539,1102,562	84	87	86		546,546	-8.2	0	22	dbSNP_116	86	271,8329	102.7+/-163.9	3,265,4032	yes	missense,missense	CRELD2	NM_001135101.1,NM_024324.3	45,45	542,1367,4594	AA,AC,CC		3.1512,49.478,18.8451	possibly-damaging,possibly-damaging	182/403,182/354	50315363	2451,10555	2203	4300	6503	SO:0001583	missense	79174	exon5			CATGGACGGCTAC	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.546C>A	22.37:g.50315363C>A	ENSP00000332223:p.Asp182Glu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_024324	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	CCDS14082.1	360	0.16483516483516483	279	0.5670731707317073	23	0.06353591160220995	39	0.06818181818181818	19	0.025065963060686015	C	5.672	0.308604	0.10733	0.49478	0.031512	ENSG00000184164	ENST00000450207;ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	D;T;D;D;D	0.97553	-4.43;0.65;-2.26;-2.26;-2.26	4.12	-8.23	0.01033	EGF-like, laminin (1);Growth factor, receptor (1);	0.282585	0.37053	N	0.002272	T	0.00012	0.0000	L	0.41632	1.29	0.44771	P	0.0022259999999999502	P;P;P;P;P;P	0.51933	0.949;0.79;0.902;0.794;0.816;0.87	P;P;P;B;B;B	0.50162	0.601;0.633;0.447;0.234;0.18;0.357	T	0.48525	-0.9028	9	0.06236	T	0.91	.	15.8268	0.78711	0.0:0.1287:0.0874:0.7838	rs8139422;rs8139422	182;182;182;182;182;182	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;.;CREL2_HUMAN;.	E	182	ENSP00000387769:D182E;ENSP00000383938:D182E;ENSP00000332223:D182E;ENSP00000386034:D182E;ENSP00000384111:D182E	ENSP00000332223:D182E	D	+	3	2	CRELD2	48701367	0.000000	0.05858	0.001000	0.08648	0.607000	0.37147	-2.992000	0.00657	-3.063000	0.00256	-1.648000	0.00760	GAC	C|0.811;A|0.189	0.189	strong		0.677	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		A	50315363	C	A	50315363	3	1	22	1	0	0	0	0	1	0	0	0	3867	535	19	4	564	4	CRELD2	22	50315363	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	34675	50315363	989203	11047	16155										
CRELD2	79174	hgsc.bcm.edu	37	chr22	50315971	50315971	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggcctctccgattcttacCcgccttgctgtctgtctctt	7	17	4	0	rs377640443|rs71805922|rs386822608|rs386822607|rs73891177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50315971C>G	ENST00000328268.4	+	6	666				CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000404488.3_Missense_Mutation_p.P207A|CRELD2_ENST00000444954.1_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGATTCTTACCCGCCTTGCTG	0.612													C|||	553	0.110423	0.3419	0.0231	5008	,	,		14622	0.0367		0.0149	False		,,,				2504	0.0337				p.P207A		Atlas-SNP	.											.	CRELD2	57	.	0			c.C619G						PASS	.						28	31	30					22																	50315971		1548	3578	5126	SO:0001627	intron_variant	79174	exon6			TCTTACCCGCCTT	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-289C>G	22.37:g.50315971C>G		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_001135101	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	CCDS14082.1	177	0.08104395604395605	136	0.2764227642276423	7	0.019337016574585635	22	0.038461538461538464	12	0.0158311345646438	C	0.266	-0.996275	0.02145	.	.	ENSG00000184164	ENST00000404488	T	0.51071	0.72	1.32	-2.64	0.06114	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.21314	-1.0249	8	0.13470	T	0.59	.	4.967	0.14096	0.2351:0.5907:0.0:0.1742	.	207	Q6UXH1-5	.	A	207	ENSP00000383938:P207A	ENSP00000383938:P207A	P	+	1	0	CRELD2	48701975	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.308000	0.01131	-2.211000	0.00737	-1.172000	0.01736	CCG	C|0.933;G|0.067	0.067	strong		0.612	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		G	50315971	C	G	50315971	1	3	22	0	1	0	0	0	0	0	0	0	3867	623	22	4		4	CRELD2	22	50315971	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	608	50315971	988595	11048	16156										
IL17REL	400935	hgsc.bcm.edu	37	chr22	50439194	50439194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggcctcacctgctgcccccCctgctgccggtgggaggccc	13	19	1	0	rs9617090	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50439194C>T	ENST00000389983.2	-	5	472	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	IL17REL_ENST00000341280.5_Missense_Mutation_p.G70R	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	70			G -> R (in dbSNP:rs9617090).	GGQ -> RGR (in Ref. 1; BAC85743). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTGCCCCCCCTGCTGCCGG	0.701													C|||	1328	0.265176	0.1384	0.2968	5008	,	,		17292	0.3343		0.4115	False		,,,				2504	0.1922				p.G70R		Atlas-SNP	.											.	IL17REL	21	.	0			c.G208A						PASS	.		ARG/GLY	810,3588		87,636,1476	15	18	17		208	-0.7	0	22	dbSNP_119	17	3580,5004		761,2058,1473	yes	missense	IL17REL	NM_001001694.2	125	848,2694,2949	TT,TC,CC		41.7055,18.4175,33.8161	benign	70/337	50439194	4390,8592	2199	4292	6491	SO:0001583	missense	400935	exon5			GCCCCCCCTGCTG	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.208G>A	22.37:g.50439194C>T	ENSP00000374633:p.Gly70Arg	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	99	49	0.494949	NM_001001694	A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	CCDS33679.1	672	0.3076923076923077	66	0.13414634146341464	106	0.292817679558011	198	0.34615384615384615	302	0.39841688654353563	c	4.275	0.050173	0.08243	0.184175	0.417055	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13420	2.59;2.59	3.36	-0.699	0.11277	.	1.046010	0.07618	U	0.926515	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48258	-0.9051	9	0.15952	T	0.53	.	3.7209	0.08456	0.4232:0.4475:0.0:0.1293	rs9617090	70	Q6ZVW7	I17EL_HUMAN	R	70	ENSP00000374633:G70R;ENSP00000342520:G70R	ENSP00000342520:G70R	G	-	1	0	IL17REL	48781321	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.148000	0.10219	0.068000	0.16574	-0.127000	0.14921	GGG	C|0.696;T|0.304	0.304	strong		0.701	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		T	50439194	C	T	50439194	3	4	22	1	0	0	0	0	1	0	0	0	7644	623	22	2	842	2	IL17REL	22	50439194	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123223	50439194	865372	11049	16157										
TUBGCP6	85378	hgsc.bcm.edu	37	chr22	50667859	50667859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacgaggcccttgctgtacaAagagtccaggacgggctgca	13	12	0	1	rs6010211	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50667859A>G	ENST00000248846.5	-	4	1368	c.1264T>C	c.(1264-1266)Ttg>Ctg	p.L422L	TUBGCP6_ENST00000439308.2_Silent_p.L422L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	422					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGCTGTACAAAGAGTCCAGG	0.567													A|||	297	0.0593051	0.2171	0.0144	5008	,	,		20076	0.0		0.0	False		,,,				2504	0.0				p.L422L		Atlas-SNP	.											.	TUBGCP6	132	.	0			c.T1264C						PASS	.	A		817,3585	317.4+/-295.1	79,659,1463	78	57	64		1264	-2.6	0	22	dbSNP_114	64	0,8600		0,0,4300	no	coding-synonymous	TUBGCP6	NM_020461.3		79,659,5763	GG,GA,AA		0.0,18.5597,6.2836		422/1820	50667859	817,12185	2201	4300	6501	SO:0001819	synonymous_variant	85378	exon4			TGTACAAAGAGTC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1264T>C	22.37:g.50667859A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	208	86	0.413462	NM_020461	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																			A|0.936;G|0.064	0.064	strong		0.567	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		G	50667859	A	G	50667859	2	3	22	1	0	0	0	0	0	0	0	1	16767	11	1	2		2	TUBGCP6	22	50667859	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	228665	50667859	636707	11050	16158										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50716068	50716068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caggcatccatgaaggtctgCgcgatgactgacagcgaggc	14	11	1	3	rs11547732	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50716068C>T	ENST00000449103.1	-	33	5288	c.5148G>A	c.(5146-5148)gcG>gcA	p.A1716A	PLXNB2_ENST00000359337.4_Silent_p.A1716A			O15031	PLXB2_HUMAN	plexin B2	1716					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAAGGTCTGCGCGATGACTG	0.632													C|||	471	0.0940495	0.3374	0.0303	5008	,	,		16203	0.0		0.004	False		,,,				2504	0.0				p.A1716A		Atlas-SNP	.											.	PLXNB2	172	.	0			c.G5148A						PASS	.	C		1148,3132		141,866,1133	60	66	64		5148	-7.9	0	22	dbSNP_120	64	10,8510		0,10,4250	no	coding-synonymous	PLXNB2	NM_012401.3		141,876,5383	TT,TC,CC		0.1174,26.8224,9.0469		1716/1839	50716068	1158,11642	2140	4260	6400	SO:0001819	synonymous_variant	23654	exon33			GGTCTGCGCGATG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5148G>A	22.37:g.50716068C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	188	95	0.505319	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	161	0.07371794871794872	147	0.29878048780487804	13	0.03591160220994475	0	0.0	1	0.0013192612137203166	C	0.034	-1.315528	0.01331	0.268224	0.001174	ENSG00000196576	ENST00000399964	.	.	.	3.94	-7.87	0.01183	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999955255	.	.	.	.	.	.	T	0.48937	-0.8990	4	0.87932	D	0	.	3.99	0.09533	0.1301:0.3253:0.341:0.2036	rs11547732	.	.	.	H	346	.	ENSP00000382845:R346H	R	-	2	0	PLXNB2	49058195	0.000000	0.05858	0.009000	0.14445	0.067000	0.16453	-3.257000	0.00537	-6.532000	0.00003	-2.734000	0.00129	CGC	T|0.048;G|0.000;C|0.952;A|0.000	0.048	strong		0.632	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50716068	C	T	50716068	2	4	22	1	0	0	0	0	0	0	0	1	12124	755	27	1		1	PLXNB2	22	50716068	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	48209	50716068	588498	11051	16159										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50718941	50718941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagcatcagcttggggttCttggccaccacgtactgctc	11	14	2	0	rs73891209	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50718941C>T	ENST00000449103.1	-	25	4292	c.4152G>A	c.(4150-4152)aaG>aaA	p.K1384K	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.K1384K			O15031	PLXB2_HUMAN	plexin B2	1384					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTTGGGGTTCTTGGCCACCA	0.692													C|||	222	0.0443291	0.1619	0.0115	5008	,	,		9618	0.0		0.0	False		,,,				2504	0.0				p.K1384K		Atlas-SNP	.											.	PLXNB2	172	.	0			c.G4152A						PASS	.	C		556,3828		45,466,1681	75	80	78		4152	4.3	1	22	dbSNP_130	78	1,8583		0,1,4291	no	coding-synonymous	PLXNB2	NM_012401.3		45,467,5972	TT,TC,CC		0.0116,12.6825,4.2952		1384/1839	50718941	557,12411	2192	4292	6484	SO:0001819	synonymous_variant	23654	exon25			GGGGTTCTTGGCC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4152G>A	22.37:g.50718941C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																			C|0.976;G|0.000;T|0.024	0.024	strong		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50718941	C	T	50718941	2	4	22	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLXNB2	22	50718941	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2873	50718941	585625	11052	16160										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50720430	50720430	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcagcaccgtgaggttgtaGgcctctggctcctcaggcac	12	13	3	1	rs56110807	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50720430G>C	ENST00000449103.1	-	20	3338	c.3198C>G	c.(3196-3198)gcC>gcG	p.A1066A	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.A1066A			O15031	PLXB2_HUMAN	plexin B2	1066	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGTTGTAGGCCTCTGGCT	0.612													G|||	436	0.0870607	0.3169	0.0245	5008	,	,		17944	0.0		0.0	False		,,,				2504	0.0				p.A1066A		Atlas-SNP	.											.	PLXNB2	172	.	0			c.C3198G						PASS	.	G		954,3276		106,742,1267	54	61	59		3198	2.5	1	22	dbSNP_129	59	2,8428		0,2,4213	no	coding-synonymous	PLXNB2	NM_012401.3		106,744,5480	CC,CG,GG		0.0237,22.5532,7.5513		1066/1839	50720430	956,11704	2115	4215	6330	SO:0001819	synonymous_variant	23654	exon20			GTTGTAGGCCTCT		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3198C>G	22.37:g.50720430G>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	23	0.560976	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	154	0.07051282051282051	144	0.2926829268292683	10	0.027624309392265192	0	0.0	0	0.0	G	6.393	0.440700	0.12104	0.225532	2.37E-4	ENSG00000196576	ENST00000427829	.	.	.	4.63	2.46	0.29980	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.20538	-1.0272	3	.	.	.	.	10.4218	0.44354	0.1674:0.0:0.8326:0.0	rs56110807	.	.	.	R	84	.	.	P	-	2	0	PLXNB2	49062557	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	2.715000	0.47210	1.146000	0.42352	0.313000	0.20887	CCT	G|0.953;C|0.047	0.047	strong		0.612	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		C	50720430	G	C	50720430	2	2	22	1	0	0	0	0	0	0	0	1	12124	987	35	4		4	PLXNB2	22	50720430	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1489	50720430	584136	11053	16161										
FAM116B	414918	hgsc.bcm.edu	37	chr22	50752258	50752258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tataccttgagcagccgtttGagcagcgccttgtcgcggtg	13	11	0	2	rs115446109	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50752258G>A	ENST00000413817.3	-	14	1259	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	396					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCAGCCGTTTGAGCAGCGCCT	0.677													G|||	61	0.0121805	0.0446	0.0029	5008	,	,		10156	0.0		0.0	False		,,,				2504	0.0				p.L396L		Atlas-SNP	.											.	.	.	.	0			c.C1188T						PASS	.	G		202,3980		3,196,1892	34	40	38		1188	1	1	22	dbSNP_132	38	2,8408		0,2,4203	no	coding-synonymous	FAM116B	NM_001001794.3		3,198,6095	AA,AG,GG		0.0238,4.8302,1.6201		396/586	50752258	204,12388	2091	4205	6296	SO:0001819	synonymous_variant	414918	exon14			CCGTTTGAGCAGC	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1188C>T	22.37:g.50752258G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	126	59	0.468254	NM_001001794	A6X8I5	Silent	SNP	ENST00000413817.3	37	CCDS46732.1																																																																																			G|0.984;A|0.016	0.016	strong		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		A	50752258	G	A	50752258	2	1	22	1	0	0	0	0	0	0	0	1	5408	1277	45	2		2	FAM116B	22	50752258	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31828	50752258	552308	11054	16162										
SAPS2	9701	hgsc.bcm.edu	37	chr22	50874851	50874851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgtggaggagacgctgacGgagacgaaccgcaggaacac	15	10	0	3	rs78837601	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50874851G>A	ENST00000216061.5	+	15	1942	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	PPP6R2_ENST00000395741.3_Silent_p.T525T|PPP6R2_ENST00000395744.3_Silent_p.T524T|PPP6R2_ENST00000359139.3_Silent_p.T524T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	524						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						AGACGCTGACGGAGACGAACC	0.687													G|||	105	0.0209665	0.0719	0.0086	5008	,	,		17157	0.004		0.0	False		,,,				2504	0.0				p.T525T		Atlas-SNP	.											.	PPP6R2	71	.	0			c.G1575A						PASS	.	G	,,,	322,4064		9,304,1880	53	34	41		1572,1575,1572,1572	-9.1	0	22	dbSNP_131	41	2,8584		0,2,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	,,,	9,306,6171	AA,AG,GG		0.0233,7.3415,2.4977	,,,	524/960,525/934,524/928,524/933	50874851	324,12648	2193	4293	6486	SO:0001819	synonymous_variant	9701	exon14			GCTGACGGAGACG	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.1572G>A	22.37:g.50874851G>A		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	342	166	0.48538	NM_001242899	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37																																																																																				G|0.976;A|0.024	0.024	strong		0.687	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		A	50874851	G	A	50874851	2	1	22	1	0	0	0	0	0	0	0	1	13837	1103	39	1		1	SAPS2	22	50874851	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	122593	50874851	429715	11055	16163										
SBF1	6305	hgsc.bcm.edu	37	chr22	50885775	50885775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaaggccttctcgtccacAgtcttaggggcacccatagt	10	12	2	1	rs1053744	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50885775A>G	ENST00000390679.3	-	39	5665	c.5481T>C	c.(5479-5481)acT>acC	p.T1827T	SBF1_ENST00000380817.3_Silent_p.T1853T|SBF1_ENST00000348911.6_Silent_p.T1828T			O95248	MTMR5_HUMAN	SET binding factor 1	1827	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCGTCCACAGTCTTAGGGG	0.642													A|||	2509	0.500998	0.4909	0.5389	5008	,	,		13950	0.4673		0.5577	False		,,,				2504	0.4642				p.T1853T		Atlas-SNP	.											.	SBF1	211	.	0			c.T5559C						PASS	.	A		2081,2205		516,1049,578	74	83	80		5559	-2.7	1	22	dbSNP_86	80	4607,3887		1282,2043,922	no	coding-synonymous	SBF1	NM_002972.2		1798,3092,1500	GG,GA,AA		45.7617,48.5534,47.6682		1853/1894	50885775	6688,6092	2143	4247	6390	SO:0001819	synonymous_variant	6305	exon40			GTCCACAGTCTTA	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5481T>C	22.37:g.50885775A>G		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	194	194	1	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37		1149	0.5260989010989011	254	0.516260162601626	201	0.5552486187845304	278	0.486013986013986	416	0.5488126649076517	A	5.172	0.217273	0.09810	0.485534	0.542383	ENSG00000100241	ENST00000418590	.	.	.	3.17	-2.66	0.06077	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999862939	.	.	.	.	.	.	T	0.45862	-0.9232	3	.	.	.	.	6.3706	0.21479	0.5815:0.1763:0.2423:0.0	rs1053744;rs3194350;rs17846548;rs17859623;rs59941368;rs1053744	.	.	.	R	375	.	.	C	-	1	0	SBF1	49232641	0.534000	0.26362	0.991000	0.47740	0.493000	0.33554	0.012000	0.13287	-0.623000	0.05618	-0.609000	0.04063	TGT	G|0.524;N|0.000	0.524	strong		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				G	50885775	A	G	50885775	2	3	22	1	0	0	0	0	0	0	0	1	13858	175	7	3		3	SBF1	22	50885775	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	10924	50885775	418791	11056	16164										
SBF1	6305	hgsc.bcm.edu	37	chr22	50899103	50899103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttacggaagagctcggcgctGtcagaccccacctcctcgtc	10	16	1	2	rs77064034	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50899103G>A	ENST00000390679.3	-	24	3190	c.3006C>T	c.(3004-3006)gaC>gaT	p.D1002D	SBF1_ENST00000380817.3_Silent_p.D1002D|SBF1_ENST00000348911.6_Silent_p.D1003D			O95248	MTMR5_HUMAN	SET binding factor 1	1002					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCGGCGCTGTCAGACCCCA	0.627													G|||	99	0.0197684	0.0711	0.0072	5008	,	,		16560	0.0		0.0	False		,,,				2504	0.0				p.D1002D		Atlas-SNP	.											.	SBF1	211	.	0			c.C3006T						PASS	.	G		270,3750		8,254,1748	87	92	90		3006	-3.9	1	22	dbSNP_131	90	1,8301		0,1,4150	no	coding-synonymous	SBF1	NM_002972.2		8,255,5898	AA,AG,GG		0.012,6.7164,2.1993		1002/1894	50899103	271,12051	2010	4151	6161	SO:0001819	synonymous_variant	6305	exon24			GGCGCTGTCAGAC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3006C>T	22.37:g.50899103G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	96	43	0.447917	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37																																																																																				G|0.990;A|0.010	0.010	strong		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50899103	G	A	50899103	2	1	22	1	0	0	0	0	0	0	0	1	13858	1368	48	2		2	SBF1	22	50899103	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	13328	50899103	405463	11057	16165										
KLHDC7B	113730	hgsc.bcm.edu	37	chr22	50987843	50987843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcggtggcgaatgcctgtaCagcatggagtgctacgaccc	13	11	0	0	rs61746062	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50987843C>T	ENST00000395676.2	+	1	1382	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	416										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AATGCCTGTACAGCATGGAGT	0.682													C|||	434	0.0866613	0.1762	0.0375	5008	,	,		14164	0.004		0.0875	False		,,,				2504	0.0849				p.Y416Y		Atlas-SNP	.											.	KLHDC7B	39	.	0			c.C1248T						PASS	.	C		735,3671	293.0+/-282.3	65,605,1533	75	73	74		1248	5.3	1	22	dbSNP_129	74	751,7847	176.6+/-226.4	32,687,3580	no	coding-synonymous	KLHDC7B	NM_138433.3		97,1292,5113	TT,TC,CC		8.7346,16.6818,11.4273		416/595	50987843	1486,11518	2203	4299	6502	SO:0001819	synonymous_variant	113730	exon1			CCTGTACAGCATG	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1248C>T	22.37:g.50987843C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_138433		Silent	SNP	ENST00000395676.2	37	CCDS14097.2																																																																																			C|0.896;T|0.104	0.104	strong		0.682	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		T	50987843	C	T	50987843	2	4	22	1	0	0	0	0	0	0	0	1	8361	489	17	2		2	KLHDC7B	22	50987843	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	88740	50987843	316723	11058	16166										
KLHDC7B	113730	hgsc.bcm.edu	37	chr22	50988062	50988062	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggcgttccagcgacatcgtGgcactggggggcttcctgta	15	12	0	0	rs140519	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50988062G>T	ENST00000395676.2	+	1	1601	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	489										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGACATCGTGGCACTGGGGG	0.667													G|||	2029	0.405152	0.1936	0.4366	5008	,	,		13461	0.5784		0.495	False		,,,				2504	0.3978				p.V489V		Atlas-SNP	.											KLHDC7B,extremity,malignant_melanoma,+2,1	KLHDC7B	39	1	0			c.G1467T						PASS	.	G		1017,3389		119,779,1305	48	54	52		1467	3.2	1	22	dbSNP_78	52	4137,4459		1014,2109,1175	no	coding-synonymous	KLHDC7B	NM_138433.3		1133,2888,2480	TT,TG,GG		48.127,23.0822,39.6401		489/595	50988062	5154,7848	2203	4298	6501	SO:0001819	synonymous_variant	113730	exon1			CATCGTGGCACTG	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1467G>T	22.37:g.50988062G>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	66	36	0.545455	NM_138433		Silent	SNP	ENST00000395676.2	37	CCDS14097.2																																																																																			G|0.594;T|0.406	0.406	strong		0.667	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		T	50988062	G	T	50988062	2	4	22	1	0	0	0	0	0	0	0	1	8361	1335	47	4		4	KLHDC7B	22	50988062	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	219	50988062	316504	11059	16167										
KLHDC7B	113730	hgsc.bcm.edu	37	chr22	50988193	50988193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcccgcccccgccccactgcActgcaccaccctgggcaaca	8	23	0	0	rs131779	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:50988193A>G	ENST00000395676.2	+	1	1732	c.1598A>G	c.(1597-1599)cAc>cGc	p.H533R	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	533										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCACTGCACTGCACCACC	0.692													G|||	2906	0.580272	0.5681	0.5288	5008	,	,		11564	0.5942		0.6421	False		,,,				2504	0.5552				p.H533R		Atlas-SNP	.											KLHDC7B,NS,carcinoma,0,1	KLHDC7B	39	1	0			c.A1598G						PASS	.	G	ARG/HIS	2536,1834		770,996,419	10	12	11		1598	3.3	0.3	22	dbSNP_78	11	5522,3022		1823,1876,573	yes	missense	KLHDC7B	NM_138433.3	29	2593,2872,992	GG,GA,AA		35.3699,41.968,37.6026	benign	533/595	50988193	8058,4856	2185	4272	6457	SO:0001583	missense	113730	exon1			CACTGCACTGCAC	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1598A>G	22.37:g.50988193A>G	ENSP00000379034:p.His533Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	31	31	1	NM_138433		Missense_Mutation	SNP	ENST00000395676.2	37	CCDS14097.2	1292	0.5915750915750916	279	0.5670731707317073	192	0.5303867403314917	338	0.5909090909090909	483	0.637203166226913	G	0.009	-1.806562	0.00606	0.58032	0.646301	ENSG00000130487	ENST00000395676	T	0.12879	2.64	5.45	3.31	0.37934	Kelch-type beta propeller (1);	0.341271	0.21124	N	0.079762	T	0.00012	0.0000	N	0.01482	-0.84	0.36922	P	0.10854399999999997	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	9	0.21014	T	0.42	.	8.3074	0.32051	0.2773:0.0:0.7227:0.0	rs131779;rs3747274;rs57664384;rs131779	533	Q96G42	KLD7B_HUMAN	R	533	ENSP00000379034:H533R	ENSP00000379034:H533R	H	+	2	0	KLHDC7B	49335059	0.998000	0.40836	0.311000	0.25182	0.013000	0.08279	3.906000	0.56340	0.244000	0.21351	-0.320000	0.08662	CAC	A|0.413;G|0.587	0.587	strong		0.692	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		G	50988193	A	G	50988193	3	3	22	1	0	0	0	0	1	0	0	0	8361	159	6	2	1600	2	KLHDC7B	22	50988193	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	131	50988193	316373	11060	16168										
CPT1B	1375	hgsc.bcm.edu	37	chr22	51009953	51009953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggccacctggtaggaactctCgatgaccgcctggcactgcc	12	15	1	1	rs470117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:51009953C>T	ENST00000360719.2	-	14	1728	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CPT1B_ENST00000440709.1_Missense_Mutation_p.E450K|CPT1B_ENST00000405237.3_Missense_Mutation_p.E531K|CPT1B_ENST00000312108.7_Missense_Mutation_p.E531K|CPT1B_ENST00000457250.1_Missense_Mutation_p.E497K|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.E531K|CPT1B_ENST00000434492.2_Missense_Mutation_p.E326K	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	531			E -> K (in dbSNP:rs470117). {ECO:0000269|PubMed:11258795, ECO:0000269|PubMed:14702039}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TAGGAACTCTCGATGACCGCC	0.577													C|||	1677	0.334864	0.0915	0.4352	5008	,	,		19631	0.4593		0.4602	False		,,,				2504	0.3354				p.E531K	Esophageal Squamous(170;988 1933 25577 30295 48163)	Atlas-SNP	.											.	CPT1B	61	.	0			c.G1591A	GRCh37	CM070885	CPT1B	M	rs470117	PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	689,3717	287.5+/-279.3	60,569,1574	109	95	100		1489,1591,1348,1591,1591,1591,1591	5.3	1	22	dbSNP_80	100	3935,4665	546.8+/-385.0	919,2097,1284	yes	missense,missense,missense,missense,missense,missense,missense	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	56,56,56,56,56,56,56	979,2666,2858	TT,TC,CC		45.7558,15.6378,35.5528	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	497/739,531/773,450/692,531/773,531/773,531/773,531/773	51009953	4624,8382	2203	4300	6503	SO:0001583	missense	1375	exon14			AACTCTCGATGAC	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1591G>A	22.37:g.51009953C>T	ENSP00000353945:p.Glu531Lys	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	39	39	1	NM_001145135	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	821	0.3759157509157509	60	0.12195121951219512	154	0.425414364640884	267	0.46678321678321677	340	0.44854881266490765	C	17.42	3.385632	0.61956	0.156378	0.457558	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.31	5.31	0.75309	.	0.048276	0.85682	D	0.000000	T	0.00012	0.0000	M	0.70903	2.155	0.09310	P	0.999999999303188	D;B;P	0.54397	0.966;0.159;0.683	P;B;B	0.46076	0.503;0.094;0.311	T	0.02301	-1.1180	9	0.41790	T	0.15	-28.5847	16.511	0.84284	0.0:1.0:0.0:0.0	rs470117;rs17848465;rs60919458;rs470117	450;497;531	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	K	531;531;531;497;450;326;531	ENSP00000385486:E531K;ENSP00000312189:E531K;ENSP00000353945:E531K;ENSP00000409342:E497K;ENSP00000414713:E450K;ENSP00000410966:E326K;ENSP00000379011:E531K	ENSP00000312189:E531K	E	-	1	0	CPT1B	49356819	1.000000	0.71417	0.993000	0.49108	0.408000	0.30992	2.827000	0.48112	2.768000	0.95171	0.561000	0.74099	GAG	C|0.649;T|0.351	0.351	strong		0.577	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		T	51009953	C	T	51009953	3	4	22	1	0	0	0	0	1	0	0	0	3832	893	31	1	751	1	CPT1B	22	51009953	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21760	51009953	294613	11061	16169										
ARSA	410	hgsc.bcm.edu	37	chr22	51064039	51064039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgagccttgtactttccaGtccgcacagcaaaaacccca	7	14	0	1	rs743616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chr22:51064039G>C	ENST00000547307.1	-	7	1577	c.1172C>G	c.(1171-1173)aCt>aGt	p.T391S	ARSA_ENST00000216124.5_Missense_Mutation_p.T393S|ARSA_ENST00000356098.5_Missense_Mutation_p.T393S|ARSA_ENST00000453344.2_Missense_Mutation_p.T307S|ARSA_ENST00000547805.1_Missense_Mutation_p.T391S|ARSA_ENST00000395619.3_Missense_Mutation_p.T393S|ARSA_ENST00000395621.3_Missense_Mutation_p.T393S|ARSA_ENST00000610191.1_5'Flank			P15289	ARSA_HUMAN	arylsulfatase A	391			T -> S (in dbSNP:rs743616). {ECO:0000269|PubMed:10477432, ECO:0000269|PubMed:11061266, ECO:0000269|PubMed:11456299, ECO:0000269|PubMed:11941485, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15326627, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1670590, ECO:0000269|PubMed:9888390, ECO:0000269|Ref.6}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	GTACTTTCCAGTCCGCACAGC	0.652													C|||	2031	0.405551	0.3578	0.4697	5008	,	,		14864	0.3214		0.5288	False		,,,				2504	0.3845				p.T393S		Atlas-SNP	.											.	ARSA	19	.	0			c.C1178G	GRCh37	CM910052	ARSA	M	rs743616	PASS	.	C	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	1736,2670	646.8+/-398.4	352,1032,819	69	82	78	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1178,1178,1178,1178,920	0	0.9	22	dbSNP_86	78	4560,4040	555.3+/-386.7	1220,2120,960	yes	missense,missense,missense,missense,missense	ARSA	NM_000487.5,NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2	58,58,58,58,58	1572,3152,1779	CC,CG,GG		46.9767,39.4008,48.4084	benign,benign,benign,benign,benign	393/510,393/510,393/510,393/510,307/424	51064039	6296,6710	2203	4300	6503	SO:0001583	missense	410	exon8			TTTCCAGTCCGCA	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1172C>G	22.37:g.51064039G>C	ENSP00000448440:p.Thr391Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	178	70	0.393258	NM_001085426	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37		930	0.4258241758241758	181	0.3678861788617886	176	0.4861878453038674	185	0.32342657342657344	388	0.5118733509234829	C	8.274	0.813939	0.16537	0.394008	0.530233	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.59	-0.0288	0.13920	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.175200	0.06015	N	0.650226	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.21014	T	0.42	.	1.5892	0.02650	0.1364:0.3411:0.1333:0.3891	rs743616;rs1051552;rs3171785;rs17184315;rs17856452;rs60738949;rs743616	391	P15289	ARSA_HUMAN	S	393;393;391;391;393;307;393	ENSP00000348406:T393S;ENSP00000216124:T393S;ENSP00000448440:T391S;ENSP00000448932:T391S;ENSP00000378983:T393S;ENSP00000412542:T307S;ENSP00000378981:T393S	ENSP00000216124:T393S	T	-	2	0	ARSA	49410905	0.000000	0.05858	0.862000	0.33874	0.935000	0.57460	0.103000	0.15292	0.053000	0.16036	-0.934000	0.02701	ACT	G|0.545;C|0.455	0.455	strong		0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		C	51064039	G	C	51064039	3	2	22	1	0	0	0	0	1	0	0	0	987	1029	36	4	359	4	ARSA	22	51064039	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	54086	51064039	240527	11062	16170										
PPP2R3B	28227	hgsc.bcm.edu	37	chrX	295132	295132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccaggtcctcgtccccgcaTgcgtactcgtacaggtccac	9	17	0	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:295132T>C	ENST00000390665.3	-	13	1716	c.1698A>G	c.(1696-1698)gcA>gcG	p.A566A		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	566					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTCCCCGCATGCGTACTCGT	0.736													T|||	2715	0.542133	0.8351	0.4395	5008	,	,		11415	0.5278		0.4185	False		,,,				2504	0.3609				p.A566A		Atlas-SNP	.											.	PPP2R3B	43	.	0			c.A1698G						PASS	.	T		3373,977		1347,679,149	14	22	19		1698	-0.6	0	X	dbSNP_134	19	3489,5049		730,2029,1510	no	coding-synonymous	PPP2R3B	NM_013239.4		2077,2708,1659	CC,CT,TT		40.8644,22.4598,46.7567		566/576	295132	6862,6026	2175	4269	6444	SO:0001819	synonymous_variant	28227	exon13			CCCGCATGCGTAC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1698A>G	X.37:g.295132T>C		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_013239	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			T|0.485;C|0.515	0.515	strong		0.736	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		C	295132	T	C	295132	2	2	22	1	0	0	0	0	0	0	0	1	12389	1451	51	2		2	PPP2R3B	23	295132	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10		295132	154975428	11063	16171										
PPP2R3B	28227	hgsc.bcm.edu	37	chrX	295231	295231	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcactcagcttctgctccacAgggctgagctcggcctcgaa	11	15	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:295231A>G	ENST00000390665.3	-	13	1617	c.1599T>C	c.(1597-1599)ccT>ccC	p.P533P		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	533					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGCTCCACAGGGCTGAGCT	0.682													A|||	2776	0.554313	0.8411	0.4337	5008	,	,		13211	0.5655		0.4344	False		,,,				2504	0.364				p.P533P		Atlas-SNP	.											.	PPP2R3B	43	.	0			c.T1599C						PASS	.	A		3401,971		1346,709,131	18	20	20		1599	-0.5	0.8	X	dbSNP_134	20	3531,5019		737,2057,1481	no	coding-synonymous	PPP2R3B	NM_013239.4		2083,2766,1612	GG,GA,AA		41.2982,22.2095,46.3551		533/576	295231	6932,5990	2186	4275	6461	SO:0001819	synonymous_variant	28227	exon13			CTCCACAGGGCTG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1599T>C	X.37:g.295231A>G		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_013239	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			A|0.446;G|0.554	0.554	strong		0.682	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		G	295231	A	G	295231	2	3	22	1	0	0	0	0	0	0	0	1	12389	175	7	3		3	PPP2R3B	23	295231	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	99	295231	154975329	11064	16172										
PPP2R3B	28227	hgsc.bcm.edu	37	chrX	299360	299360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgtcctcccagggctctcccGcagtctcctcggccaccagg	10	20	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:299360G>A	ENST00000390665.3	-	12	1574	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	519			A -> V (in dbSNP:rs1133520). {ECO:0000269|PubMed:15489334}.		cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCTCTCCCGCAGTCTCCTC	0.692													G|||	1043	0.208267	0.1135	0.2133	5008	,	,		11088	0.2222		0.3012	False		,,,				2504	0.2229				p.A519V		Atlas-SNP	.											.	PPP2R3B	43	.	0			c.C1556T						PASS	.	G	VAL/ALA	680,3680		59,562,1559	74	66	69		1556	0.9	0	X	dbSNP_134	69	2514,6044		372,1770,2137	no	missense	PPP2R3B	NM_013239.4	64	431,2332,3696	AA,AG,GG		29.376,15.5963,24.7252	possibly-damaging	519/576	299360	3194,9724	2180	4279	6459	SO:0001583	missense	28227	exon12			TCTCCCGCAGTCT	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1556C>T	X.37:g.299360G>A	ENSP00000375080:p.Ala519Val	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	145	68	0.468966	NM_013239	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	CCDS14104.1	504	0.23076923076923078	56	0.11382113821138211	87	0.24033149171270718	129	0.22552447552447552	232	0.30606860158311344	G	13.72	2.322172	0.41096	0.155963	0.29376	ENSG00000167393	ENST00000390665	T	0.47528	0.84	1.87	0.895	0.19247	.	0.000000	0.64402	U	0.000001	T	0.00012	0.0000	L	0.56769	1.78	0.09310	N	0.999999	D	0.61697	0.99	P	0.55112	0.769	T	0.01711	-1.1290	10	0.66056	D	0.02	.	7.588	0.28004	0.1538:0.0:0.8462:0.0	.	519	Q9Y5P8	P2R3B_HUMAN	V	519	ENSP00000375080:A519V	ENSP00000375080:A519V	A	-	2	0	PPP2R3B	219360	1.000000	0.71417	0.004000	0.12327	0.040000	0.13550	2.464000	0.45067	0.487000	0.27698	0.174000	0.16983	GCG	G|0.755;A|0.245	0.245	strong		0.692	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		A	299360	G	A	299360	3	1	22	1	0	0	0	0	1	0	0	0	12389	1087	38	1	179	1	PPP2R3B	23	299360	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4129	299360	154971200	11065	16173										
CSF2RA	1438	hgsc.bcm.edu	37	chrX	1401646	1401646	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgtgagttaccacacccagCattcctcctgatcccagaga	7	15	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1401646C>G	ENST00000381524.3	+	3	236	c.50C>G	c.(49-51)gCa>gGa	p.A17G	CSF2RA_ENST00000355432.3_Missense_Mutation_p.A17G|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A17G|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A17G|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A17G|CSF2RA_ENST00000494969.2_Missense_Mutation_p.A17G|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A17G|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A17G|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A17G|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A17G|CSF2RA_ENST00000501036.2_5'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	17					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCACACCCAGCATTCCTCCTG	0.527													c|||	1070	0.213658	0.6914	0.0749	5008	,	,		20490	0.0308		0.0477	False		,,,				2504	0.0256				p.A17G	Esophageal Squamous(131;723 1707 25334 40494 41806)	Atlas-SNP	.											.	CSF2RA	153	.	0			c.C50G						PASS	.	C	GLY/ALA,GLY/ALA,GLY/ALA,,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA	2532,1874		717,1098,388	260	267	264		50,50,50,,50,50,50,50,50	0.2	0	X	dbSNP_134	264	358,8234		12,334,3950	yes	missense,missense,missense,utr-5,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	60,60,60,,60,60,60,60,60	729,1432,4338	GG,GC,CC		4.1667,42.5329,22.2342	possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	17/401,17/435,17/411,,17/401,17/401,17/378,17/334,17/234	1401646	2890,10108	2203	4296	6499	SO:0001583	missense	1438	exon1			ACCCAGCATTCCT	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.50C>G	X.37:g.1401646C>G	ENSP00000370935:p.Ala17Gly	Somatic	589	0	0		WXS	Illumina HiSeq	Phase_I	593	281	0.473862	NM_172247	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	395	0.18086080586080586	317	0.6443089430894309	25	0.06906077348066299	16	0.027972027972027972	37	0.048812664907651716	.	8.761	0.923502	0.18056	0.574671	0.041667	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.95238	-3.32;-3.32;-3.65;-3.32;0.61;1.55;-3.45;0.54;0.77;-3.17;-3.65	1.21	0.191	0.15130	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20563	N	0.999885	D;P;D;D;D;P	0.61697	0.972;0.953;0.978;0.99;0.99;0.953	P;P;P;P;P;P	0.59948	0.866;0.739;0.649;0.763;0.719;0.739	T	0.24154	-1.0168	8	0.25751	T	0.34	.	3.6875	0.08334	0.0:0.7058:0.0:0.2942	.	17;17;17;17;17;17	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	G	17	ENSP00000370940:A17G;ENSP00000416437:A17G;ENSP00000354836:A17G;ENSP00000370935:A17G;ENSP00000410667:A17G;ENSP00000397452:A17G;ENSP00000370920:A17G;ENSP00000348058:A17G;ENSP00000347606:A17G;ENSP00000394227:A17G;ENSP00000370911:A17G	ENSP00000347606:A17G	A	+	2	0	CSF2RA	1361646	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.182000	0.16900	-0.211000	0.10124	0.350000	0.21858	GCA	C|0.794;G|0.206	0.206	strong		0.527	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			G	1401646	C	G	1401646	3	3	22	1	0	0	0	0	1	0	0	0	3934	710	25	4	52	4	CSF2RA	23	1401646	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1102286	1401646	153868914	11066	16174										
CSF2RA	1438	hgsc.bcm.edu	37	chrX	1428421	1428421	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctccgcctccgcgacacGggggaactgttttcttgatg	11	13	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1428421G>T	ENST00000381524.3	+	0	1438				CSF2RA_ENST00000355432.3_Missense_Mutation_p.R358L|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCGCGACACGGGGGAACTGT	0.498																																					p.R358L	Esophageal Squamous(131;723 1707 25334 40494 41806)	Atlas-SNP	.											.	CSF2RA	153	.	0			c.G1073T						PASS	.	T	,,,,,LEU/ARG,,	1324,3082		206,912,1085	249	229	236		,,,,,1073,,	-0.7	0	X	dbSNP_134	236	478,8114		20,438,3838	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense,utr-3,utr-3	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	,,,,,102,,	226,1350,4923	TT,TG,GG		5.5633,30.0499,13.8637	,,,,,,,	,,,,,358/378,,	1428421	1802,11196	2203	4296	6499	SO:0001624	3_prime_UTR_variant	1438	exon11			CGACACGGGGGAA	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*49G>T	X.37:g.1428421G>T		Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	246	111	0.451219	NM_172246	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	339	0.15521978021978022	162	0.32926829268292684	38	0.10497237569060773	80	0.13986013986013987	59	0.07783641160949868	.	0	-2.586937	0.00128	0.300499	0.055633	ENSG00000198223	ENST00000355432	T	0.45276	0.9	0.69	-0.685	0.11328	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	7	0.87932	D	0	.	.	.	.	.	359	P15509-5	.	L	358	ENSP00000347606:R358L	ENSP00000347606:R358L	R	+	2	0	CSF2RA	1388421	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.367000	0.07553	-1.076000	0.03125	-2.336000	0.00247	CGG	T|0.144;G|0.854;A|0.002	0.144	strong		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1428421	G	T	1428421	1	4	22	0	1	0	0	0	0	0	0	0	3934	1116	39	4		4	CSF2RA	23	1428421	3'UTR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	26775	1428421	153842139	11067	16175										
ASMTL	8623	hgsc.bcm.edu	37	chrX	1522325	1522325	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagtgactgcatcagggcgCgctgcgccaccctcttctcc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1522325C>T	ENST00000381317.3	-	13	1735	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	ASMTL_ENST00000416733.2_Missense_Mutation_p.R492H|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000534940.1_Missense_Mutation_p.R510H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R552H|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000602357.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	568	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCAGGGCGCGCTGCGCCAC	0.652													c|||	99	0.0197684	0.0726	0.0043	5008	,	,		19958	0.0		0.0	False		,,,				2504	0.0				p.R568H		Atlas-SNP	.											.	ASMTL	56	.	0			c.G1703A						PASS	.		HIS/ARG,HIS/ARG,HIS/ARG	309,3951		11,287,1832	78	86	84		1529,1655,1703	1.3	0	X	dbSNP_134	84	4,8470		0,4,4233	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	29,29,29	11,291,6065	TT,TC,CC		0.0472,7.2535,2.458	possibly-damaging,possibly-damaging,possibly-damaging	510/564,552/606,568/622	1522325	313,12421	2130	4237	6367	SO:0001583	missense	8623	exon13			AGGGCGCGCTGCG	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1703G>A	X.37:g.1522325C>T	ENSP00000370718:p.Arg568His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	192	100	0.520833	NM_004192	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	50	0.022893772893772892	50	0.1016260162601626	0	0.0	0	0.0	0	0.0	c	4.831	0.154519	0.09236	0.072535	4.72E-4	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	1.31	1.31	0.21738	O-methyltransferase, family 2 (1);	0.432093	0.20024	U	0.100843	T	0.00724	0.0024	L	0.50333	1.59	0.25285	N	0.989409	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.64506	0.926;0.909;0.908	T	0.04481	-1.0948	10	0.13108	T	0.6	.	5.3914	0.16245	0.0:0.6424:0.3576:0.0	.	492;552;568	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	H	492;510;552;568	ENSP00000410578:R492H;ENSP00000446410:R510H;ENSP00000370734:R552H;ENSP00000370718:R568H	ENSP00000370718:R568H	R	-	2	0	ASMTL	1482325	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-2.266000	0.01171	0.693000	0.31634	0.115000	0.15696	CGC	C|0.977;T|0.023	0.023	strong		0.652	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1522325	C	T	1522325	3	4	22	1	0	0	0	0	1	0	0	0	1046	768	27	1	166	1	ASMTL	23	1522325	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	93904	1522325	153748235	11068	16176	347	2								
ASMTL	8623	hgsc.bcm.edu	37	chrX	1522330	1522330	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactgcatcagggcgcgctgCgccaccctcttctcctcatc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1522330C>T	ENST00000381317.3	-	13	1730	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	ASMTL_ENST00000416733.2_Silent_p.A490A|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000534940.1_Silent_p.A508A|ASMTL_ENST00000381333.4_Silent_p.A550A|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000602357.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	566	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCGCGCTGCGCCACCCTCT	0.652													c|||	79	0.0157748	0.059	0.0014	5008	,	,		19966	0.0		0.0	False		,,,				2504	0.0				p.A566A		Atlas-SNP	.											.	ASMTL	56	.	0			c.G1698A						PASS	.		,,	259,3999		9,241,1879	76	84	81		1524,1650,1698	0.3	0	X	dbSNP_134	81	2,8470		0,2,4234	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	9,243,6113	TT,TC,CC		0.0236,6.0827,2.0503	,,	508/564,550/606,566/622	1522330	261,12469	2129	4236	6365	SO:0001819	synonymous_variant	8623	exon13			GCGCTGCGCCACC	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1698G>A	X.37:g.1522330C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	189	98	0.518519	NM_004192	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																			C|0.982;T|0.018	0.018	strong		0.652	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1522330	C	T	1522330	2	4	22	1	0	0	0	0	0	0	0	1	1046	755	27	1		1	ASMTL	23	1522330	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5	1522330	153748230	11069	16177	347	2								
ASMTL	8623	hgsc.bcm.edu	37	chrX	1531701	1531701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtcatgcaggatccggcaCaggacgtacagctcagcgct	12	13	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1531701C>T	ENST00000381317.3	-	12	1601	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	ASMTL_ENST00000416733.2_Silent_p.L447L|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000534940.1_Silent_p.L465L|ASMTL_ENST00000381333.4_Silent_p.L507L|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	523	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGATCCGGCACAGGACGTACA	0.562													c|||	95	0.0189696	0.0703	0.0014	5008	,	,		16507	0.0		0.001	False		,,,				2504	0.0				p.L523L		Atlas-SNP	.											.	ASMTL	56	.	0			c.G1569A						PASS	.		,,	280,3766		9,262,1752	160	174	169		1395,1521,1569	-1.9	0	X	dbSNP_134	169	2,8348		0,2,4173	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	9,264,5925	TT,TC,CC		0.024,6.9204,2.2749	,,	465/564,507/606,523/622	1531701	282,12114	2023	4175	6198	SO:0001819	synonymous_variant	8623	exon12			CCGGCACAGGACG	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1569G>A	X.37:g.1531701C>T		Somatic	404	1	0.00247525		WXS	Illumina HiSeq	Phase_I	448	211	0.470982	NM_004192	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																			C|0.981;T|0.019	0.019	strong		0.562	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1531701	C	T	1531701	2	4	22	1	0	0	0	0	0	0	0	1	1046	465	17	2		2	ASMTL	23	1531701	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9371	1531701	153738859	11070	16178										
ASMTL	8623	hgsc.bcm.edu	37	chrX	1537953	1537953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgcagtcagcttcgtcatgcCgtgcatggcccgcatgaacc	11	15	2	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:1537953C>T	ENST00000381317.3	-	10	1332	c.1300G>A	c.(1300-1302)Ggc>Agc	p.G434S	ASMTL_ENST00000416733.2_Missense_Mutation_p.G358S|ASMTL_ENST00000534940.1_Missense_Mutation_p.G376S|ASMTL_ENST00000381333.4_Missense_Mutation_p.G418S	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	434	ASMT-like.			G -> S (in Ref. 2; BAG63287). {ECO:0000305}.		cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCGTCATGCCGTGCATGGCC	0.672													c|||	600	0.119808	0.1256	0.1023	5008	,	,		15106	0.0972		0.1869	False		,,,				2504	0.0787				p.G434S		Atlas-SNP	.											.	ASMTL	56	.	0			c.G1300A						PASS	.		SER/GLY,SER/GLY,SER/GLY	596,3652		41,514,1569	37	50	46		1126,1252,1300	-3.8	0	X	dbSNP_134	46	1369,7073		125,1119,2977	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	56,56,56	166,1633,4546	TT,TC,CC		16.2165,14.0301,15.4846	benign,benign,benign	376/564,418/606,434/622	1537953	1965,10725	2124	4221	6345	SO:0001583	missense	8623	exon10			TCATGCCGTGCAT	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1300G>A	X.37:g.1537953C>T	ENSP00000370718:p.Gly434Ser	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	178	103	0.578652	NM_004192	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	309	0.14148351648351648	76	0.15447154471544716	37	0.10220994475138122	63	0.11013986013986014	133	0.17546174142480211	c	1.729	-0.494575	0.04322	0.140301	0.162165	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	1.88	-3.76	0.04359	O-methyltransferase, family 2 (1);	0.325338	0.30901	N	0.008641	T	0.00012	0.0000	N	0.13235	0.315	0.09310	N	1	B;B;B	0.14805	0.011;0.009;0.011	B;B;B	0.18871	0.023;0.011;0.019	T	0.26360	-1.0105	10	0.10636	T	0.68	.	3.4151	0.07373	0.264:0.2992:0.0:0.4368	.	358;418;434	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	S	358;376;418;434	ENSP00000410578:G358S;ENSP00000446410:G376S;ENSP00000370734:G418S;ENSP00000370718:G434S	ENSP00000370718:G434S	G	-	1	0	ASMTL	1497953	0.996000	0.38824	0.036000	0.18154	0.045000	0.14185	0.139000	0.16036	-1.731000	0.01360	-1.717000	0.00709	GGC	C|0.858;T|0.142	0.142	strong		0.672	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1537953	C	T	1537953	3	4	22	1	0	0	0	0	1	0	0	0	1046	652	23	1	581	1	ASMTL	23	1537953	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	6252	1537953	153732607	11071	16179										
ARSD	414	hgsc.bcm.edu	37	chrX	2825403	2825403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttccacaggatgttgctcAtggaaaactgctggggcaca	12	10	1	0	rs2228431	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:2825403A>G	ENST00000381154.1	-	10	1766	c.1691T>C	c.(1690-1692)aTg>aCg	p.M564T	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	564			M -> T (in dbSNP:rs2228431).		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATGTTGCTCATGGAAAACTG	0.627													N|||	823	0.218013	0.1876	0.0937	3775	,	,		12785	0.3313		0.0348	False		,,,				2504	0.1442				p.M564T		Atlas-SNP	.											.	ARSD	47	.	0			c.T1691C						PASS	.	G	THR/MET	956,2879		116,583,141,933,430	36	34	34		1691	-5.8	0	X	dbSNP_98	34	320,6408		13,202,92,2213,1780	yes	missense	ARSD	NM_001669.3	81	129,785,233,3146,2210	GG,GA,G,AA,A		4.7562,24.9283,12.0799	benign	564/594	2825403	1276,9287	2203	4300	6503	SO:0001583	missense	414	exon10			TTGCTCATGGAAA	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1691T>C	X.37:g.2825403A>G	ENSP00000370546:p.Met564Thr	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	291	139	0.477663	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	381	0.22965641952983726	82	0.19523809523809524	26	0.07738095238095238	128	0.29767441860465116	19	0.025675675675675677	g	2.506	-0.314007	0.05422	0.249283	0.047562	ENSG00000006756	ENST00000381154	D	0.89343	-2.5	2.9	-5.8	0.02347	Alkaline-phosphatase-like, core domain (1);	1.400680	0.04841	N	0.440493	T	0.00012	0.0000	N	0.05124	-0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07849	-1.0751	9	0.21014	T	0.42	.	5.4477	0.16546	0.6198:0.0:0.2561:0.1242	rs2228431;rs17331021;rs56831853;rs2228431	564	P51689	ARSD_HUMAN	T	564	ENSP00000370546:M564T	ENSP00000370546:M564T	M	-	2	0	ARSD	2835403	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.031000	0.13710	-2.691000	0.00403	-1.918000	0.00516	ATG	0|0.003;G|0.184	0.184	strong		0.627	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			G	2825403	A	G	2825403	3	3	22	1	0	0	0	0	1	0	0	0	989	217	8	2	94	2	ARSD	23	2825403	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1287450	2825403	152445157	11072	16180										
ARSE	415	hgsc.bcm.edu	37	chrX	2867651	2867651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttctctgagagttcccagCgggcgcaatcacccatcaag	10	14	3	1	rs34412194	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:2867651C>T	ENST00000381134.3	-	6	614	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ARSE_ENST00000540563.1_Missense_Mutation_p.R138H|ARSE_ENST00000545496.1_Missense_Mutation_p.R208H	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	183			R -> H (in dbSNP:rs34412194).		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGTTCCCAGCGGGCGCAATC	0.527													c|||	39	0.0103311	0.0295	0.0	3775	,	,		15270	0.0		0.0	False		,,,				2504	0.0				p.R183H		Atlas-SNP	.											.	ARSE	43	.	0			c.G548A						PASS	.		HIS/ARG	149,3686		2,118,27,1512,544	97	81	86		548	-6.2	0	X	dbSNP_126	86	20,6708		0,16,4,2412,1868	yes	missense	ARSE	NM_000047.2	29	2,134,31,3924,2412	TT,TC,T,CC,C		0.2973,3.8853,1.5999	benign	183/590	2867651	169,10394	2203	4300	6503	SO:0001583	missense	415	exon6			TCCCAGCGGGCGC	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.548G>A	X.37:g.2867651C>T	ENSP00000370526:p.Arg183His	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	211	107	0.507109	NM_000047	Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	CCDS14122.1	6	0.003616636528028933	5	0.010245901639344262	0	0.0	0	0.0	0	0.0	c	3.529	-0.096143	0.07010	0.038853	0.002973	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.98649	-5.05;-5.05;-5.05	3.13	-6.25	0.02039	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.414780	0.04104	N	0.313410	T	0.80281	0.4594	N	0.04787	-0.16	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.82319	-0.0516	10	0.41790	T	0.15	.	0.8636	0.01198	0.1773:0.2059:0.2526:0.3642	rs34412194	138;208;183	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	H	138;208;183	ENSP00000438198:R138H;ENSP00000441417:R208H;ENSP00000370526:R183H	ENSP00000370526:R183H	R	-	2	0	ARSE	2877651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.031000	0.00158	-3.969000	0.00086	-2.358000	0.00240	CGC	C|0.969;0|0.016	.	strong		0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2867651	C	T	2867651	3	4	22	1	0	0	0	0	1	0	0	0	990	768	27	1	1245	1	ARSE	23	2867651	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	42248	2867651	152402909	11073	16181										
ARSH	347527	hgsc.bcm.edu	37	chrX	2933057	2933057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctctcggaatgatcactgTtaccacccgctcaaccatgg	8	15	3	1	rs143359225	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:2933057T>C	ENST00000381130.2	+	4	387	c.387T>C	c.(385-387)tgT>tgC	p.C129C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	129					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATGATCACTGTTACCACCCGC	0.507													C|||	122	0.0323179	0.0877	0.0086	3775	,	,		15128	0.0		0.0	False		,,,				2504	0.0				p.C129C		Atlas-SNP	.											.	ARSH	72	.	0			c.T387C						PASS	.	C		491,3344		32,349,78,1251,493	102	88	93		387	2.8	0.9	X	dbSNP_134	93	6,6722		0,4,2,2424,1870	no	coding-synonymous	ARSH	NM_001011719.1		32,353,80,3675,2363	CC,CT,C,TT,T		0.0892,12.8031,4.7051		129/563	2933057	497,10066	2203	4300	6503	SO:0001819	synonymous_variant	347527	exon4			TCACTGTTACCAC	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.387T>C	X.37:g.2933057T>C		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	227	115	0.506608	NM_001011719		Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																			T|0.952;C|0.048	0.048	strong		0.507	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		C	2933057	T	C	2933057	2	2	22	1	0	0	0	0	0	0	0	1	993	1731	60	2		2	ARSH	23	2933057	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65406	2933057	152337503	11074	16182										
ARSH	347527	hgsc.bcm.edu	37	chrX	2933311	2933311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcacttcctggtactctaGttatggatttactcgacgtt	7	9	2	0	rs61995728	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:2933311G>A	ENST00000381130.2	+	4	641	c.641G>A	c.(640-642)aGt>aAt	p.S214N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	214					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTACTCTAGTTATGGATTT	0.458													G|||	120	0.0317881	0.0862	0.0086	3775	,	,		14863	0.0		0.0	False		,,,				2504	0.0				p.S214N		Atlas-SNP	.											.	ARSH	72	.	0			c.G641A						PASS	.	G	ASN/SER	491,3344		32,349,78,1251,493	170	115	134		641	4	0	X	dbSNP_129	134	6,6722		0,4,2,2424,1870	yes	missense	ARSH	NM_001011719.1	46	32,353,80,3675,2363	AA,AG,A,GG,G		0.0892,12.8031,4.7051	probably-damaging	214/563	2933311	497,10066	2203	4300	6503	SO:0001583	missense	347527	exon4			ACTCTAGTTATGG	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.641G>A	X.37:g.2933311G>A	ENSP00000370522:p.Ser214Asn	Somatic	314	1	0.00318471		WXS	Illumina HiSeq	Phase_I	310	132	0.425806	NM_001011719		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	45	0.027124773960216998	29	0.06223175965665236	2	0.00558659217877095	0	0.0	0	0.0	G	10.51	1.369111	0.24771	0.128031	8.92E-4	ENSG00000205667	ENST00000381130	D	0.93712	-3.27	4.03	4.03	0.46877	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.436377	0.25558	N	0.029844	T	0.23133	0.0559	M	0.76433	2.335	0.80722	P	0.0	D	0.54397	0.966	P	0.61477	0.889	T	0.64829	-0.6315	9	0.26408	T	0.33	.	10.8038	0.46504	0.0:0.0:0.8104:0.1896	rs61995728	214	Q5FYA8	ARSH_HUMAN	N	214	ENSP00000370522:S214N	ENSP00000370522:S214N	S	+	2	0	ARSH	2943311	0.007000	0.16637	0.002000	0.10522	0.065000	0.16274	1.501000	0.35693	1.629000	0.50426	0.556000	0.70494	AGT	G|0.952;A|0.048	0.048	strong		0.458	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		A	2933311	G	A	2933311	3	1	22	1	0	0	0	0	1	0	0	0	993	1029	36	2	655	2	ARSH	23	2933311	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	254	2933311	152337249	11075	16183										
ARSH	347527	hgsc.bcm.edu	37	chrX	2933323	2933323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtactctagttatggatttaCtcgacgttggaattgcatcc	9	8	1	0	rs61997197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:2933323C>T	ENST00000381130.2	+	4	653	c.653C>T	c.(652-654)aCt>aTt	p.T218I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	218					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATGGATTTACTCGACGTTGG	0.463													C|||	122	0.0323179	0.0877	0.0086	3775	,	,		14570	0.0		0.0	False		,,,				2504	0.0				p.T218I		Atlas-SNP	.											.	ARSH	72	.	0			c.C653T						PASS	.	C	ILE/THR	491,3344		32,349,78,1251,493	164	113	131		653	-7.5	0	X	dbSNP_129	131	6,6722		0,4,2,2424,1870	yes	missense	ARSH	NM_001011719.1	89	32,353,80,3675,2363	TT,TC,T,CC,C		0.0892,12.8031,4.7051	benign	218/563	2933323	497,10066	2203	4300	6503	SO:0001583	missense	347527	exon4			GATTTACTCGACG	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.653C>T	X.37:g.2933323C>T	ENSP00000370522:p.Thr218Ile	Somatic	273	1	0.003663		WXS	Illumina HiSeq	Phase_I	281	123	0.437722	NM_001011719		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	45	0.027124773960216998	29	0.06223175965665236	2	0.00558659217877095	0	0.0	0	0.0	C	2.305	-0.359233	0.05138	0.128031	8.92E-4	ENSG00000205667	ENST00000381130	D	0.93953	-3.32	4.03	-7.5	0.01351	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	2.073320	0.02352	N	0.076063	T	0.03011	0.0089	N	0.01134	-0.995	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.62291	-0.6885	9	0.17832	T	0.49	.	12.9274	0.58268	0.0:0.1984:0.0:0.8016	rs61997197	218	Q5FYA8	ARSH_HUMAN	I	218	ENSP00000370522:T218I	ENSP00000370522:T218I	T	+	2	0	ARSH	2943323	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.122000	0.15687	-2.070000	0.00881	-0.248000	0.11899	ACT	C|0.952;T|0.048	0.048	strong		0.463	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		T	2933323	C	T	2933323	3	4	22	1	0	0	0	0	1	0	0	0	993	565	20	2	667	2	ARSH	23	2933323	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	12	2933323	152337237	11076	16184										
ARSF	416	hgsc.bcm.edu	37	chrX	3028260	3028260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tccactactgtggctcctacCtgcacgccgtgcggtggatc	11	15	0	0	rs17051478	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:3028260C>T	ENST00000381127.1	+	10	1578	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	ARSF_ENST00000537104.1_Silent_p.L453L|ARSF_ENST00000359361.2_Silent_p.L453L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	453					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCTCCTACCTGCACGCCGT	0.587													c|||	389	0.103046	0.1732	0.1225	3775	,	,		14845	0.0		0.0666	False		,,,				2504	0.0082				p.L453L		Atlas-SNP	.											.	ARSF	97	.	0			c.C1357T						PASS	.	C	,,	796,3039		69,541,117,1022,454	120	88	99		1357,1357,1357	0.7	0	X	dbSNP_123	99	507,6221		16,335,140,2077,1732	no	coding-synonymous,coding-synonymous,coding-synonymous	ARSF	NM_001201538.1,NM_001201539.1,NM_004042.4	,,	85,876,257,3099,2186	TT,TC,T,CC,C		7.5357,20.7562,12.3355	,,	453/591,453/591,453/591	3028260	1303,9260	2203	4300	6503	SO:0001819	synonymous_variant	416	exon10			TCCTACCTGCACG	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1357C>T	X.37:g.3028260C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	201	110	0.547264	NM_004042	Q8TCC5	Silent	SNP	ENST00000381127.1	37	CCDS14123.1																																																																																			C|0.873;0|0.002	.	strong		0.587	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			T	3028260	C	T	3028260	2	4	22	1	0	0	0	0	0	0	0	1	991	680	24	2		2	ARSF	23	3028260	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	94937	3028260	152242300	11077	16185										
ARSF	416	hgsc.bcm.edu	37	chrX	3028289	3028289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcggtggatccccaaggaCgacagtgagtgctcaacccg	14	12	1	1	rs5983011	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:3028289C>T	ENST00000381127.1	+	10	1607	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D	ARSF_ENST00000537104.1_Silent_p.D462D|ARSF_ENST00000359361.2_Silent_p.D462D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	462					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCCAAGGACGACAGTGAGT	0.572													c|||	389	0.103046	0.1732	0.1225	3775	,	,		14967	0.0		0.0666	False		,,,				2504	0.0082				p.D462D		Atlas-SNP	.											.	ARSF	97	.	0			c.C1386T						PASS	.	C	,,	796,3039		69,541,117,1022,454	116	87	97		1386,1386,1386	-1.3	0	X	dbSNP_114	97	507,6221		16,335,140,2077,1732	no	coding-synonymous,coding-synonymous,coding-synonymous	ARSF	NM_001201538.1,NM_001201539.1,NM_004042.4	,,	85,876,257,3099,2186	TT,TC,T,CC,C		7.5357,20.7562,12.3355	,,	462/591,462/591,462/591	3028289	1303,9260	2203	4300	6503	SO:0001819	synonymous_variant	416	exon10			CAAGGACGACAGT	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1386C>T	X.37:g.3028289C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	168	89	0.529762	NM_004042	Q8TCC5	Silent	SNP	ENST00000381127.1	37	CCDS14123.1																																																																																			C|0.874;0|0.003	.	strong		0.572	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			T	3028289	C	T	3028289	2	4	22	1	0	0	0	0	0	0	0	1	991	535	19	1		1	ARSF	23	3028289	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	29	3028289	152242271	11078	16186										
NLGN4X	57502	hgsc.bcm.edu	37	chrX	5821468	5821468	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacatgaacttgatagtctcCcgcaaagtgtctttcccttc	6	12	2	2	rs61741754	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:5821468C>G	ENST00000381095.3	-	5	1878	c.1251G>C	c.(1249-1251)cgG>cgC	p.R417R	NLGN4X_ENST00000381093.2_Silent_p.R437R|NLGN4X_ENST00000275857.6_Silent_p.R417R|NLGN4X_ENST00000381092.1_Silent_p.R417R|NLGN4X_ENST00000538097.1_Silent_p.R417R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	417					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGATAGTCTCCCGCAAAGTGT	0.542													c|||	232	0.061457	0.1604	0.0259	3775	,	,		12595	0.0		0.002	False		,,,				2504	0.0				p.R417R		Atlas-SNP	.											.	NLGN4X	191	.	0			c.G1251C						PASS	.	G	,	580,2948		38,395,109,1058,437	6	7	7		1251,1251	-1.2	0	X	dbSNP_134	7	4,6426		0,4,0,2331,1760	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	38,399,109,3389,2197	GG,GC,G,CC,C		0.0622,16.4399,5.8646	,	417/817,417/817	5821468	584,9374	2037	4095	6132	SO:0001819	synonymous_variant	57502	exon5			AGTCTCCCGCAAA	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1251G>C	X.37:g.5821468C>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	229	125	0.545852	NM_181332	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																			C|0.870;G|0.130	0.130	strong		0.542	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		G	5821468	C	G	5821468	2	3	22	1	0	0	0	0	0	0	0	1	10464	610	22	4		4	NLGN4X	23	5821468	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2793179	5821468	149449092	11079	16187										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	6995315	6995315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcacaagctaggaagatgtcCgggtctggcttgccatgctg	14	10	1	1	rs2379206	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:6995315C>T	ENST00000381077.5	-	3	532	c.456G>A	c.(454-456)ccG>ccA	p.P152P	HDHD1_ENST00000540122.1_Silent_p.P152P|HDHD1_ENST00000424830.2_Silent_p.P175P|HDHD1_ENST00000412827.2_Silent_p.P109P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	152					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GGAAGATGTCCGGGTCTGGCT	0.557													C|||	2503	0.663046	0.559	0.5187	3775	,	,		15252	0.4524		0.4185	False		,,,				2504	0.5389				p.P175P		Atlas-SNP	.											.	HDHD1	21	.	0			c.G525A						PASS	.	C	,,,	2638,926		837,565,399,95,171	35	36	36		525,456,327,456	-7.8	0	X	dbSNP_100	36	3887,2671		870,1118,1029,387,779	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	,,,	1707,1683,1428,482,950	TT,TC,T,CC,C		40.7289,25.982,35.5365	,,,	175/252,152/209,109/186,152/229	6995315	6525,3597	2067	4183	6250	SO:0001819	synonymous_variant	8226	exon4			GATGTCCGGGTCT	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.456G>A	X.37:g.6995315C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	233	112	0.480687	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																			C|0.347;T|0.653	0.653	strong		0.557	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995315	C	T	6995315	2	4	22	1	0	0	0	0	0	0	0	1	7022	639	23	1		1	HDHD1A	23	6995315	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1173847	6995315	148275245	11080	16188										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	6995417	6995417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtcttcatatcgaacgaCgcggaccccgagctggtggc	12	13	2	0	rs2379207	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:6995417C>T	ENST00000381077.5	-	3	430	c.354G>A	c.(352-354)gcG>gcA	p.A118A	HDHD1_ENST00000540122.1_Silent_p.A118A|HDHD1_ENST00000424830.2_Silent_p.A141A|HDHD1_ENST00000412827.2_Silent_p.A75A	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	118					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TATCGAACGACGCGGACCCCG	0.587													C|||	961	0.25457	0.0537	0.3372	3775	,	,		11649	0.2153		0.1779	False		,,,				2504	0.2658				p.A141A		Atlas-SNP	.											.	HDHD1	21	.	0			c.G423A						PASS	.	C	,,,	354,3193		16,254,68,1218,503	44	46	46		423,354,225,354	-1.5	0	X	dbSNP_100	46	1568,4975		152,846,418,1370,1389	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	,,,	168,1100,486,2588,1892	TT,TC,T,CC,C		23.9645,9.9803,19.0486	,,,	141/252,118/209,75/186,118/229	6995417	1922,8168	2059	4175	6234	SO:0001819	synonymous_variant	8226	exon4			GAACGACGCGGAC	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.354G>A	X.37:g.6995417C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	187	97	0.518717	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																			C|0.748;0|0.031	.	strong		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995417	C	T	6995417	2	4	22	1	0	0	0	0	0	0	0	1	7022	523	19	1		1	HDHD1A	23	6995417	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	102	6995417	148275143	11081	16189										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	6995438	6995438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcggaccccgagctggtggcCagtgcaaaggggatgccatg	17	11	0	0	rs1803675	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:6995438C>T	ENST00000381077.5	-	3	409	c.333G>A	c.(331-333)ctG>ctA	p.L111L	HDHD1_ENST00000540122.1_Silent_p.L111L|HDHD1_ENST00000424830.2_Silent_p.L134L|HDHD1_ENST00000412827.2_Silent_p.L68L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	111					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						AGCTGGTGGCCAGTGCAAAGG	0.597													C|||	1051	0.278411	0.1074	0.3473	3775	,	,		12574	0.2153		0.1909	False		,,,				2504	0.2648				p.L134L		Atlas-SNP	.											.	HDHD1	21	.	0			c.G402A						PASS	.	C	,,,	645,2938		57,424,107,1025,464	51	51	51		402,333,204,333	-7.8	0	X	dbSNP_89	51	1700,4864		172,894,462,1310,1350	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	,,,	229,1318,569,2335,1814	TT,TC,T,CC,C		25.8988,18.0017,23.1103	,,,	134/252,111/209,68/186,111/229	6995438	2345,7802	2077	4188	6265	SO:0001819	synonymous_variant	8226	exon4			GGTGGCCAGTGCA	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.333G>A	X.37:g.6995438C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	172	91	0.52907	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																			C|0.723;T|0.277	0.277	strong		0.597	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995438	C	T	6995438	2	4	22	1	0	0	0	0	0	0	0	1	7022	581	21	2		2	HDHD1A	23	6995438	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21	6995438	148275122	11082	16190										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	7023678	7023678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacctggcatgagcgcagccGtggggaacacttcctttaac	11	13	0	1	rs1131197	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:7023678G>A	ENST00000381077.5	-	2	339	c.263C>T	c.(262-264)aCg>aTg	p.T88M	HDHD1_ENST00000540122.1_Missense_Mutation_p.T88M|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.T111M|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	88			T -> M (in dbSNP:rs1131197). {ECO:0000269|PubMed:1284467, ECO:0000269|PubMed:14702039}.		nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAGCGCAGCCGTGGGGAACAC	0.478													g|||	960	0.254305	0.0537	0.3372	3775	,	,		12780	0.2153		0.1779	False		,,,				2504	0.2648				p.T111M		Atlas-SNP	.											.	HDHD1	21	.	0			c.C332T						PASS	.	G	MET/THR,MET/THR,,MET/THR	347,3065		15,249,68,1157,502	59	61	60		332,263,,263	3.2	0.9	X	dbSNP_86	60	1564,4948		153,840,418,1362,1384	yes	missense,missense,intron,missense	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	81,81,,81	168,1089,486,2519,1886	AA,AG,A,GG,G		24.0172,10.17,19.2563	benign,benign,,benign	111/252,88/209,,88/229	7023678	1911,8013	1991	4157	6148	SO:0001583	missense	8226	exon3			GCAGCCGTGGGGA	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.263C>T	X.37:g.7023678G>A	ENSP00000370467:p.Thr88Met	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	262	121	0.461832	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	CCDS48075.1	410	0.24713682941531043	19	0.04008438818565401	73	0.24172185430463577	87	0.18669527896995708	97	0.14391691394658754	g	14.51	2.555468	0.45487	0.1017	0.240172	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	4.01	3.15	0.36227	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.051445	0.85682	D	0.000000	T	0.00012	0.0000	M	0.81179	2.53	0.19575	P	0.9999665773	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;P	0.73708	0.978;0.941;0.981;0.88	T	0.12142	-1.0559	9	0.44086	T	0.13	-26.0628	10.1361	0.42708	0.1038:0.0:0.8962:0.0	rs1131197;rs12689910;rs60405234;rs12689910	88;111;88;88	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	M	88;104;111;88;88	ENSP00000370467:T88M;ENSP00000396452:T111M;ENSP00000441208:T88M;ENSP00000430995:T88M	ENSP00000370467:T88M	T	-	2	0	HDHD1	7033678	0.987000	0.35691	0.919000	0.36401	0.633000	0.38033	1.846000	0.39289	0.550000	0.28991	-0.195000	0.12781	ACG	0|0.023;T|0.097	.	strong		0.478	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		A	7023678	G	A	7023678	3	1	22	1	0	0	0	0	1	0	0	0	7022	1145	40	1	556	1	HDHD1A	23	7023678	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28240	7023678	148246882	11083	16191										
FAM9A	171482	hgsc.bcm.edu	37	chrX	8764370	8764370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggttttcctgtaagctgCtttatctatttttatcattt	5	7	2	0	rs148031370	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:8764370C>T	ENST00000543214.1	-	6	562	c.427G>A	c.(427-429)Gca>Aca	p.A143T	FAM9A_ENST00000381003.3_Missense_Mutation_p.A143T	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	143						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGTAAGCTGCTTTATCTATT	0.294													c|||	11	0.00291391	0.0	0.0	3775	,	,		13462	0.0		0.0099	False		,,,				2504	0.001				p.A143T		Atlas-SNP	.											.	FAM9A	57	.	0			c.G427A						PASS	.	T	THR/ALA,THR/ALA	2,3833		0,2,0,1630,571	163	125	138		427,427	-0.3	0	X	dbSNP_134	138	35,6691		0,24,11,2404,1859	yes	missense,missense	FAM9A	NM_001171186.1,NM_174951.3	58,58	0,26,11,4034,2430	TT,TC,T,CC,C		0.5204,0.0522,0.3503	possibly-damaging,possibly-damaging	143/333,143/333	8764370	37,10524	2203	4298	6501	SO:0001583	missense	171482	exon6			AAGCTGCTTTATC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.427G>A	X.37:g.8764370C>T	ENSP00000440163:p.Ala143Thr	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	140	65	0.464286	NM_174951	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	8	0.004822182037371911	0	0.0	0	0.0	0	0.0	6	0.007957559681697613	c	5.235	0.228805	0.09916	5.22E-4	0.005204	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	-0.327	0.12694	.	.	.	.	.	T	0.21307	0.0513	N	0.22421	0.69	0.09310	N	1	D	0.58620	0.983	P	0.53861	0.736	T	0.17379	-1.0371	7	0.14656	T	0.56	.	.	.	.	.	143	Q8IZU1	FAM9A_HUMAN	T	143	.	ENSP00000370391:A143T	A	-	1	0	FAM9A	8724370	0.971000	0.33674	0.000000	0.03702	0.005000	0.04900	0.178000	0.16820	-0.205000	0.10219	0.458000	0.33432	GCA	C|0.996;T|0.004	0.004	strong		0.294	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8764370	C	T	8764370	3	4	22	1	0	0	0	0	1	0	0	0	5659	797	28	2	587	2	FAM9A	23	8764370	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1740692	8764370	146506190	11084	16192										
FAM9B	171483	hgsc.bcm.edu	37	chrX	8997440	8997440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atttagcaacttcagagaatGtatataatcacgtttctgcc	6	8	3	1	rs141078293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:8997440G>A	ENST00000327220.5	-	6	665	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	FAM9B_ENST00000362066.3_Missense_Mutation_p.H141Y|FAM9B_ENST00000428477.1_Missense_Mutation_p.H101Y			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	101						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TTCAGAGAATGTATATAATCA	0.368													G|||	11	0.00291391	0.0	0.0	3775	,	,		14758	0.0		0.0109	False		,,,				2504	0.0				p.H101Y		Atlas-SNP	.											.	FAM9B	32	.	0			c.C301T						PASS	.	G	TYR/HIS	2,3833		0,2,0,1630,571	190	146	161		301	-0.6	0	X	dbSNP_134	161	84,6644		0,61,23,2367,1849	yes	missense	FAM9B	NM_205849.2	83	0,63,23,3997,2420	AA,AG,A,GG,G		1.2485,0.0522,0.8142	possibly-damaging	101/187	8997440	86,10477	2203	4300	6503	SO:0001583	missense	171483	exon5			GAGAATGTATATA		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.301C>T	X.37:g.8997440G>A	ENSP00000318716:p.His101Tyr	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	190	75	0.394737	NM_205849	Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	CCDS14132.1	9	0.0054249547920434	0	0.0	0	0.0	0	0.0	7	0.009283819628647215	G	0.008	-1.907334	0.00512	5.22E-4	0.012485	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	-0.548	0.11833	.	.	.	.	.	T	0.17959	0.0431	N	0.15975	0.35	0.09310	N	1	P;P	0.43431	0.807;0.807	P;P	0.53518	0.728;0.728	T	0.09907	-1.0653	7	0.02654	T	1	.	.	.	.	.	101;141	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	Y	141;101;101	.	ENSP00000318716:H101Y	H	-	1	0	FAM9B	8957440	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	-0.210000	0.09345	-0.426000	0.07360	-0.422000	0.05995	CAT	G|0.993;A|0.007	0.007	strong		0.368	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		A	8997440	G	A	8997440	3	1	22	1	0	0	0	0	1	0	0	0	5660	1377	48	2	271	2	FAM9B	23	8997440	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	233070	8997440	146273120	11085	16193										
SHROOM2	357	hgsc.bcm.edu	37	chrX	9863929	9863929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggaggcggaggatggcaccGgccgctggagggccgggttg	23	9	0	0	rs146519576	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:9863929G>A	ENST00000380913.3	+	4	2071	c.1981G>A	c.(1981-1983)Ggc>Agc	p.G661S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	661					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGATGGCACCGGCCGCTGGAG	0.652													G|||	6	0.0015894	0.0038	0.0014	3775	,	,		11713	0.0		0.0	False		,,,				2504	0.0				p.G661S		Atlas-SNP	.											.	SHROOM2	139	.	0			c.G1981A						PASS	.	G	SER/GLY	8,3745		0,6,2,1598,543	10	10	10		1981	1.2	0	X	dbSNP_134	10	4,6600		0,4,0,2400,1796	yes	missense	SHROOM2	NM_001649.2	56	0,10,2,3998,2339	AA,AG,A,GG,G		0.0606,0.2132,0.1159	benign	661/1617	9863929	12,10345	2149	4200	6349	SO:0001583	missense	357	exon4			GGCACCGGCCGCT	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1981G>A	X.37:g.9863929G>A	ENSP00000370299:p.Gly661Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	138	63	0.456522	NM_001649	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052893	0.08291	0.002132	6.06E-4	ENSG00000146950	ENST00000380913	T	0.39406	1.08	4.92	1.21	0.21127	Apx/shroom, ASD1 (1);	1.413420	0.04081	N	0.309622	T	0.28830	0.0715	L	0.44542	1.39	0.20196	N	0.999928	P	0.40398	0.716	B	0.25405	0.06	T	0.18335	-1.0340	10	0.11485	T	0.65	-1.4736	9.2772	0.37707	0.3048:0.0:0.6952:0.0	.	661	Q13796	SHRM2_HUMAN	S	661	ENSP00000370299:G661S	ENSP00000370299:G661S	G	+	1	0	SHROOM2	9823929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.067000	0.14510	-0.181000	0.10619	-1.129000	0.01985	GGC	G|0.998;A|0.002	0.002	strong		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		A	9863929	G	A	9863929	3	1	22	1	0	0	0	0	1	0	0	0	14294	1116	39	1	1995	1	SHROOM2	23	9863929	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	866489	9863929	145406631	11086	16194										
WWC3	55841	hgsc.bcm.edu	37	chrX	10085227	10085227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtccctagcctccagccgTgggtctctggcctccagccg	13	17	1	0	rs7058143	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:10085227T>C	ENST00000380861.4	+	11	1519	c.1128T>C	c.(1126-1128)cgT>cgC	p.R376R	WWC3_ENST00000454666.1_Silent_p.R376R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	376	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCCAGCCGTGGGTCTCTGG	0.672													C|||	774	0.205033	0.5401	0.0648	3775	,	,		12301	0.0		0.0149	False		,,,				2504	0.0				p.R376R		Atlas-SNP	.											.	WWC3	142	.	0			c.T1128C						PASS	.	C		2272,1558		575,780,342,277,224	36	44	41		1128	-3.3	0.3	X	dbSNP_116	41	142,6583		0,105,37,2323,1832	no	coding-synonymous	WWC3	NM_015691.3		575,885,379,2600,2056	CC,CT,C,TT,T		2.1115,40.6789,22.8707		376/1093	10085227	2414,8141	2198	4297	6495	SO:0001819	synonymous_variant	55841	exon11			CAGCCGTGGGTCT	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1128T>C	X.37:g.10085227T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	123	51	0.414634	NM_015691	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																			0|0.004;C|0.221	0.221	strong		0.672	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		C	10085227	T	C	10085227	2	2	22	1	0	0	0	0	0	0	0	1	17410	1683	59	2		2	WWC3	23	10085227	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	221298	10085227	145185333	11087	16195										
WWC3	55841	hgsc.bcm.edu	37	chrX	10106971	10106971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctgctgcgggaggccgagCggcaggtgggggtcccctgt	20	12	0	0	rs377116582		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:10106971C>T	ENST00000380861.4	+	21	3470	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	WWC3_ENST00000454666.1_Missense_Mutation_p.R1027W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1027					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGAGGCCGAGCGGCAGGTGGG	0.711																																					p.R1027W		Atlas-SNP	.											.	WWC3	142	.	0			c.C3079T						PASS	.	C	TRP/ARG	2,3724		0,1,1,1592,539	8	9	9		3079	-6.4	0.5	X		9	1,6500		0,1,0,2373,1753	no	missense	WWC3	NM_015691.3	101	0,2,1,3965,2292	TT,TC,T,CC,C		0.0154,0.0537,0.0293	probably-damaging	1027/1093	10106971	3,10224	2133	4127	6260	SO:0001583	missense	55841	exon21			GCCGAGCGGCAGG	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3079C>T	X.37:g.10106971C>T	ENSP00000370242:p.Arg1027Trp	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	19	16	0.842105	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632188	0.67015	5.37E-4	1.54E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.44482	0.92;0.92	4.8	-6.37	0.01963	.	0.044151	0.85682	D	0.000000	T	0.56396	0.1982	M	0.67953	2.075	0.43032	D	0.994601	D	0.76494	0.999	D	0.74348	0.983	T	0.64748	-0.6334	9	.	.	.	-20.9116	18.8956	0.92421	0.2618:0.7382:0.0:0.0	.	1027	Q9ULE0	WWC3_HUMAN	W	1027;1027;522	ENSP00000370242:R1027W;ENSP00000399584:R1027W	.	R	+	1	2	WWC3	10066971	1.000000	0.71417	0.517000	0.27799	0.613000	0.37349	2.008000	0.40893	-1.390000	0.02087	-0.436000	0.05848	CGG	.	.	weak		0.711	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10106971	C	T	10106971	3	4	22	1	0	0	0	0	1	0	0	0	17410	759	27	1	3157	1	WWC3	23	10106971	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	21744	10106971	145163589	11088	16196										
FRMPD4	9758	hgsc.bcm.edu	37	chrX	12725701	12725701	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttagccgactttagccacgtCaacaggatcgaaatgttttc	8	10	1	0	rs6641078	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:12725701C>G	ENST00000380682.1	+	13	1907	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	467	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTAGCCACGTCAACAGGATCG	0.517													C|||	918	0.243179	0.0106	0.2046	3775	,	,		13918	0.5308		0.0785	False		,,,				2504	0.1513				p.V467V		Atlas-SNP	.											.	FRMPD4	214	.	0			c.C1401G						PASS	.	C		140,3695		0,118,22,1514,549	139	116	124		1401	1.6	1	X	dbSNP_116	124	804,5924		38,508,220,1882,1652	no	coding-synonymous	FRMPD4	NM_014728.3		38,626,242,3396,2201	GG,GC,G,CC,C		11.9501,3.6506,8.9369		467/1323	12725701	944,9619	2203	4300	6503	SO:0001819	synonymous_variant	9758	exon13			CCACGTCAACAGG	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1401C>G	X.37:g.12725701C>G		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	210	98	0.466667	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																			C|0.852;G|0.148	0.148	strong		0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		G	12725701	C	G	12725701	2	3	22	1	0	0	0	0	0	0	0	1	6059	813	29	4		4	FRMPD4	23	12725701	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2618730	12725701	142544859	11089	16197										
TLR7	51284	hgsc.bcm.edu	37	chrX	12903659	12903659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgtggacactgaagagacAaattcttatcctttttaaca	6	7	1	2	rs179008	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:12903659A>T	ENST00000380659.3	+	3	171	c.32A>T	c.(31-33)cAa>cTa	p.Q11L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	11			Q -> L (in dbSNP:rs179008). {ECO:0000269|PubMed:19924287}.		cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGAAGAGACAAATTCTTATC	0.358													A|||	446	0.118146	0.0908	0.1599	3775	,	,		14565	0.0		0.1759	False		,,,				2504	0.0389				p.Q11L		Atlas-SNP	.											.	TLR7	125	.	0			c.A32T	GRCh37	CM084786	TLR7	M	rs179008	PASS	.	A	LEU/GLN	521,3314		25,397,74,1210,497	129	129	129		32	-5.4	0	X	dbSNP_79	129	1429,5299		98,792,441,1538,1431	yes	missense	TLR7	NM_016562.3	113	123,1189,515,2748,1928	TT,TA,T,AA,A		21.2396,13.5854,18.4607	benign	11/1050	12903659	1950,8613	2203	4300	6503	SO:0001583	missense	51284	exon3			AGAGACAAATTCT	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.32A>T	X.37:g.12903659A>T	ENSP00000370034:p.Gln11Leu	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	173	81	0.468208	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	253	0.1525015069318867	34	0.0735930735930736	38	0.1165644171779141	0	0.0	110	0.16224188790560473	A	8.200	0.797989	0.16327	0.135854	0.212396	ENSG00000196664	ENST00000380659	T	0.46819	0.86	5.72	-5.42	0.02640	.	0.888102	0.09632	N	0.776072	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.37606	T	0.19	.	1.4567	0.02387	0.262:0.3564:0.1455:0.2361	rs179008;rs629938;rs17256060;rs179008	11	Q9NYK1	TLR7_HUMAN	L	11	ENSP00000370034:Q11L	ENSP00000370034:Q11L	Q	+	2	0	TLR7	12813580	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	0.053000	0.14184	-0.637000	0.05516	0.421000	0.28195	CAA	0|0.021;A|0.822;T|0.157	0.157	strong		0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12903659	A	T	12903659	3	4	22	1	0	0	0	0	1	0	0	0	15953	130	5	5	38	5	TLR7	23	12903659	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	177958	12903659	142366901	11090	16198										
BMX	660	hgsc.bcm.edu	37	chrX	15555339	15555339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtggtccagctgggcaaGtggaaggggcagtatgatgt	19	5	0	1	rs376617024		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:15555339G>A	ENST00000357607.2	+	14	1493	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	BMX_ENST00000348343.6_Silent_p.K435K|BMX_ENST00000342014.6_Silent_p.K435K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGCTGGGCAAGTGGAAGGGGC	0.473													g|||	2	0.000529801	0.0	0.0	3775	,	,		13134	0.002		0.0	False		,,,				2504	0.0				p.K435K		Atlas-SNP	.											.	BMX	73	.	0			c.G1305A						PASS	.	G	,	1,3834		0,1,1631,571	187	167	174		1305,1305	3.5	1	X		174	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	BMX	NM_001721.6,NM_203281.2	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	435/676,435/676	15555339	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	660	exon14			GGGCAAGTGGAAG	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1305G>A	X.37:g.15555339G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	217	100	0.460829	NM_001721	A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	CCDS14168.1																																																																																			.	.	weak		0.473	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		A	15555339	G	A	15555339	2	1	22	1	0	0	0	0	0	0	0	1	1473	1020	36	2		2	BMX	23	15555339	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2651680	15555339	139715221	11091	16199										
ACE2	59272	hgsc.bcm.edu	37	chrX	15582298	15582298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccccagaaactctaggctgtTgtcattcagacggaaagcat	9	11	3	2	rs41303171	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:15582298T>C	ENST00000252519.3	-	17	2260	c.2158A>G	c.(2158-2160)Aac>Gac	p.N720D	ACE2_ENST00000427411.1_Missense_Mutation_p.N720D|ACE2_ENST00000471548.1_5'UTR			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	720					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCTAGGCTGTTGTCATTCAGA	0.448													T|||	17	0.00450331	0.0	0.0029	3775	,	,		14206	0.0		0.0139	False		,,,				2504	0.001				p.N720D		Atlas-SNP	.											.	ACE2	87	.	0			c.A2158G						PASS	.	T	ASP/ASN	9,3826		0,8,1,1624,570	190	171	177		2158	3.7	0.9	X	dbSNP_127	177	176,6552		2,124,48,2302,1824	yes	missense	ACE2	NM_021804.2	23	2,132,49,3926,2394	CC,CT,C,TT,T		2.6159,0.2347,1.7514	benign	720/806	15582298	185,10378	2203	4300	6503	SO:0001583	missense	59272	exon18			GGCTGTTGTCATT	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2158A>G	X.37:g.15582298T>C	ENSP00000252519:p.Asn720Asp	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	212	87	0.410377	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	14	0.008438818565400843	0	0.0	2	0.0055248618784530384	0	0.0	11	0.01455026455026455	T	9.414	1.081380	0.20309	0.002347	0.026159	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.85258	-1.96;-1.96	6.16	3.74	0.42951	.	0.405345	0.30676	N	0.009120	T	0.63558	0.2521	M	0.64567	1.98	0.26304	N	0.977924	B	0.12630	0.006	B	0.17979	0.02	T	0.67473	-0.5662	10	0.52906	T	0.07	-7.3294	9.172	0.37089	0.0:0.1533:0.0:0.8467	rs41303171	720	Q9BYF1	ACE2_HUMAN	D	720	ENSP00000252519:N720D;ENSP00000389326:N720D	ENSP00000252519:N720D	N	-	1	0	ACE2	15492219	0.957000	0.32711	0.894000	0.35097	0.079000	0.17450	0.719000	0.25881	0.922000	0.37019	0.481000	0.45027	AAC	T|0.986;C|0.014	0.014	strong		0.448	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			C	15582298	T	C	15582298	3	2	22	1	0	0	0	0	1	0	0	0	137	1812	63	2	267	2	ACE2	23	15582298	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	26959	15582298	139688262	11092	16200										
MBTPS2	51360	hgsc.bcm.edu	37	chrX	21861434	21861434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaagcaaggatgctttaccaAtggtattcttcatcttcttt	6	8	4	0	rs3213451	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:21861434A>G	ENST00000379484.5	+	2	321	c.222A>G	c.(220-222)caA>caG	p.Q74Q	MBTPS2_ENST00000365779.2_Silent_p.Q74Q|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	74					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TGCTTTACCAATGGTATTCTT	0.398													A|||	1728	0.457748	0.3722	0.4193	3775	,	,		13554	0.4117		0.2992	False		,,,				2504	0.2342				p.Q74Q		Atlas-SNP	.											.	MBTPS2	52	.	0			c.A222G						PASS	.	A		1787,2048		349,813,276,470,295	170	178	175		222	-3.5	0.9	X	dbSNP_106	175	2621,4107		377,1144,723,907,1149	no	coding-synonymous	MBTPS2	NM_015884.3		726,1957,999,1377,1444	GG,GA,G,AA,A		38.9566,46.5971,41.7306		74/520	21861434	4408,6155	2203	4300	6503	SO:0001819	synonymous_variant	51360	exon2			TTACCAATGGTAT	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.222A>G	X.37:g.21861434A>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	166	71	0.427711	NM_015884	Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	CCDS14201.1																																																																																			A|0.567;G|0.433	0.433	strong		0.398	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			G	21861434	A	G	21861434	2	3	22	1	0	0	0	0	0	0	0	1	9362	98	4	2		2	MBTPS2	23	21861434	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6279136	21861434	133409126	11093	16201										
ZNF645	158506	hgsc.bcm.edu	37	chrX	22291606	22291606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacaaactgaaatctctgaCatccctaaaagactgcaaga	5	12	1	4	rs5951426	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:22291606C>A	ENST00000323684.1	+	1	542	c.498C>A	c.(496-498)gaC>gaA	p.D166E		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	166			D -> E (in dbSNP:rs5951426). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20657603}.		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAATCTCTGACATCCCTAAAA	0.463													A|||	1533	0.406093	0.5802	0.2954	3775	,	,		14986	0.3393		0.0845	False		,,,				2504	0.137				p.D166E		Atlas-SNP	.											.	ZNF645	67	.	0			c.C498A						PASS	.	A	GLU/ASP	2605,1230		768,679,390,185,181	93	90	91		498	0.8	0	X	dbSNP_114	91	752,5976		39,471,203,1918,1669	yes	missense	ZNF645	NM_152577.3	45	807,1150,593,2103,1850	AA,AC,A,CC,C		11.1772,32.073,31.7807	benign	166/426	22291606	3357,7206	2203	4300	6503	SO:0001583	missense	158506	exon1			CTCTGACATCCCT	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.498C>A	X.37:g.22291606C>A	ENSP00000323348:p.Asp166Glu	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	272	135	0.496324	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	CCDS14205.1	635	0.38276069921639544	201	0.6165644171779141	70	0.2229299363057325	125	0.2880184331797235	41	0.05742296918767507	A	3.325	-0.137835	0.06711	0.67927	0.111772	ENSG00000175809	ENST00000323684	T	0.32272	1.46	3.32	0.836	0.18891	.	0.285432	0.29253	N	0.012685	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	9	0.06365	T	0.9	.	0.5068	0.00588	0.3297:0.1861:0.1164:0.3678	rs5951426;rs6528101;rs60426202;rs5951426	166	Q8N7E2	ZN645_HUMAN	E	166	ENSP00000323348:D166E	ENSP00000323348:D166E	D	+	3	2	ZNF645	22201527	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	-0.180000	0.09754	-0.203000	0.10251	-1.309000	0.01313	GAC	C|0.602;0|0.023	.	strong		0.463	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		A	22291606	C	A	22291606	3	1	22	1	0	0	0	0	1	0	0	0	18058	477	17	4	500	4	ZNF645	23	22291606	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	430172	22291606	132978954	11094	16202										
ZNF645	158506	hgsc.bcm.edu	37	chrX	22291732	22291732	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatcagccacataaggatatCcaggctcctcccccagaact	6	15	1	1	rs6629461	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:22291732C>T	ENST00000323684.1	+	1	668	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	208					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATAAGGATATCCAGGCTCCTC	0.438													T|||	1014	0.268609	0.202	0.2608	3775	,	,		15996	0.3403		0.0885	False		,,,				2504	0.137				p.I208I		Atlas-SNP	.											.	ZNF645	67	.	0			c.C624T						PASS	.	T		937,2898		103,585,146,944,425	141	97	112		624	-2.1	0	X	dbSNP_116	112	795,5933		44,493,214,1891,1658	no	coding-synonymous	ZNF645	NM_152577.3		147,1078,360,2835,2083	TT,TC,T,CC,C		11.8163,24.4329,16.3969		208/426	22291732	1732,8831	2203	4300	6503	SO:0001819	synonymous_variant	158506	exon1			GGATATCCAGGCT	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.624C>T	X.37:g.22291732C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	143	76	0.531469	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																			C|0.774;T|0.226	0.226	strong		0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		T	22291732	C	T	22291732	2	4	22	1	0	0	0	0	0	0	0	1	18058	845	30	2		2	ZNF645	23	22291732	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	126	22291732	132978828	11095	16203										
DDX53	168400	hgsc.bcm.edu	37	chrX	23019317	23019317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atagatgaggcagataaaatGctggatatggaatttgaacc	11	4	0	4	rs5925720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:23019317G>T	ENST00000327968.5	+	1	1231	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	381	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		M -> I (in dbSNP:rs5925720).			nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGATAAAATGCTGGATATGG	0.413													G|||	610	0.161589	0.0008	0.0432	3775	,	,		15089	0.2073		0.0885	False		,,,				2504	0.2873				p.M381I		Atlas-SNP	.											.	DDX53	76	.	0			c.G1143T						PASS	.	G	ILE/MET	67,3768		0,54,13,1578,558	112	110	110		1143	4.3	0.5	X	dbSNP_114	110	789,5939		28,494,239,1906,1633	yes	missense	DDX53	NM_182699.3	10	28,548,252,3484,2191	TT,TG,T,GG,G		11.7271,1.7471,8.1038	probably-damaging	381/632	23019317	856,9707	2203	4300	6503	SO:0001583	missense	168400	exon1			TAAAATGCTGGAT	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1143G>T	X.37:g.23019317G>T	ENSP00000368667:p.Met381Ile	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_182699	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	191	0.11512959614225438	0	0.0	11	0.03125	69	0.13745019920318724	52	0.07222222222222222	G	16.81	3.227200	0.58668	0.017471	0.117271	ENSG00000184735	ENST00000327968	T	0.14766	2.48	4.3	4.3	0.51218	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.00356	0.0011	M	0.84846	2.72	0.19575	P	0.9999620347	D	0.89917	1.0	D	0.91635	0.999	T	0.04467	-1.0949	9	0.87932	D	0	0.0312	13.7336	0.62804	0.0:0.0:1.0:0.0	rs5925720;rs58250497;rs5925720	381	Q86TM3	DDX53_HUMAN	I	381	ENSP00000368667:M381I	ENSP00000368667:M381I	M	+	3	0	DDX53	22929238	1.000000	0.71417	0.491000	0.27477	0.478000	0.33099	8.508000	0.90525	1.894000	0.54839	0.600000	0.82982	ATG	G|0.902;T|0.098	0.098	strong		0.413	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		T	23019317	G	T	23019317	3	4	22	1	0	0	0	0	1	0	0	0	4371	1319	46	4	1145	4	DDX53	23	23019317	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	727585	23019317	132251243	11096	16204										
DDX53	168400	hgsc.bcm.edu	37	chrX	23019346	23019346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaatttgaaccccagataaGgaagattttattagatgtgc	10	5	0	4	rs5926203	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:23019346G>T	ENST00000327968.5	+	1	1260	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	391	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		R -> M (in dbSNP:rs5926203).			nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CCCCAGATAAGGAAGATTTTA	0.393													T|||	1286	0.340662	0.4902	0.0793	3775	,	,		15013	0.2073		0.0915	False		,,,				2504	0.2883				p.R391M		Atlas-SNP	.											.	DDX53	76	.	0			c.G1172T						PASS	.	T	MET/ARG	2088,1747		490,813,295,329,276	140	140	140		1172	-2.1	0	X	dbSNP_114	140	818,5910		30,511,247,1887,1625	yes	missense	DDX53	NM_182699.3	91	520,1324,542,2216,1901	TT,TG,T,GG,G		12.1581,45.5541,27.5111	benign	391/632	23019346	2906,7657	2203	4300	6503	SO:0001583	missense	168400	exon1			AGATAAGGAAGAT	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1172G>T	X.37:g.23019346G>T	ENSP00000368667:p.Arg391Met	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_182699	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	444	0.26763110307414106	164	0.4823529411764706	22	0.06321839080459771	69	0.13745019920318724	52	0.07222222222222222	T	0.455	-0.892045	0.02491	0.544459	0.121581	ENSG00000184735	ENST00000327968	T	0.16196	2.36	4.03	-2.07	0.07276	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.081576	0.85682	N	0.000000	T	0.00012	0.0000	M	0.77313	2.365	0.39580	P	0.030571000000000015	B	0.02656	0.0	B	0.06405	0.002	T	0.48536	-0.9027	9	0.19590	T	0.45	-18.4477	1.365	0.02200	0.2516:0.0862:0.2724:0.3898	rs5926203;rs7065007;rs52811818;rs59571064;rs5926203	391	Q86TM3	DDX53_HUMAN	M	391	ENSP00000368667:R391M	ENSP00000368667:R391M	R	+	2	0	DDX53	22929267	1.000000	0.71417	0.002000	0.10522	0.397000	0.30659	0.907000	0.28531	-1.338000	0.02233	-1.228000	0.01579	AGG	G|0.686;0|0.012	.	strong		0.393	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		T	23019346	G	T	23019346	3	4	22	1	0	0	0	0	1	0	0	0	4371	1000	35	4	1174	4	DDX53	23	23019346	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	29	23019346	132251214	11097	16205										
EIF2S3	1968	hgsc.bcm.edu	37	chrX	24073785	24073785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttatcagcagacaagccacAattaacataggtaagagtaa	8	7	1	2	rs56229020	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24073785A>G	ENST00000253039.4	+	2	376	c.123A>G	c.(121-123)acA>acG	p.T41T		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	41	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GACAAGCCACAATTAACATAG	0.348													A|||	10	0.00264901	0.0061	0.0014	3775	,	,		16856	0.0		0.001	False		,,,				2504	0.0				p.T41T		Atlas-SNP	.											.	EIF2S3	31	.	0			c.A123G						PASS	.	A		20,3815		0,19,1,1613,570	86	71	76		123	0.8	1	X	dbSNP_129	76	3,6725		0,2,1,2426,1871	no	coding-synonymous	EIF2S3	NM_001415.3		0,21,2,4039,2441	GG,GA,G,AA,A		0.0446,0.5215,0.2177		41/473	24073785	23,10540	2203	4300	6503	SO:0001819	synonymous_variant	1968	exon2			AGCCACAATTAAC	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.123A>G	X.37:g.24073785A>G		Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	370	169	0.456757	NM_001415	B5BTZ4	Silent	SNP	ENST00000253039.4	37	CCDS14210.1	4	0.0024110910186859553	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	A	9.881	1.201486	0.22121	0.005215	4.46E-4	ENSG00000130741	ENST00000423068	.	.	.	4.68	0.75	0.18387	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29458	-1.0011	4	.	.	.	.	4.9157	0.13844	0.6333:0.0:0.2319:0.1348	rs56229020	.	.	.	D	41	.	.	N	+	1	0	EIF2S3	23983706	0.992000	0.36948	1.000000	0.80357	0.903000	0.53119	0.389000	0.20751	0.110000	0.17919	0.339000	0.21740	AAT	A|0.998;G|0.002	0.002	strong		0.348	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		G	24073785	A	G	24073785	2	3	22	1	0	0	0	0	0	0	0	1	5011	117	5	2		2	EIF2S3	23	24073785	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1054439	24073785	131196775	11098	16206										
FAM48B2	170067	hgsc.bcm.edu	37	chrX	24329779	24329779	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacgaatctggtggggcgccCggcagctggacggcgcctgc	17	13	1	0	rs189357682		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24329779C>G								AC096509.1 (24985 upstream) : AC004552.1 (37146 downstream)																							GTGGGGCGCCCGGCAGCTGGA	0.652													G|||	354	0.0937748	0.2345	0.0447	3775	,	,		10876	0.001		0.0099	False		,,,				2504	0.002				p.G552R		Atlas-SNP	.											.	.	.	.	0			c.G1654C						PASS	.	G	ARG/GLY	735,1889		88,404,155,566,353	11	12	12		1654	1.1	0	X		12	111,5382		0,78,33,1838,1628	yes	missense	FAM48B2	NM_001136233.1	125	88,482,188,2404,1981	GG,GC,G,CC,C		2.0208,28.0107,10.4226	benign	552/818	24329779	846,7271	1566	3577	5143	SO:0001628	intergenic_variant	170067	exon1			GGCGCCCGGCAGC																													X.37:g.24329779C>G		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	221	130	0.588235	NM_001136233		Missense_Mutation	SNP		37																																																																																				C|0.927;G|0.073	0.073	strong	0	0.652									G	24329779	C	G	24329779	1	3	22	0	1	0	0	0	0	0	0	0	5574	652	23	4		4	FAM48B2	23	24329779	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	255994	24329779	130940781	11099	16207										
FAM48B2	170067	hgsc.bcm.edu	37	chrX	24329793	24329793	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgcccggcagctggacggCgcctgctagctttaataaga	14	12	0	1	rs139232512		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24329793C>T								AC096509.1 (24999 upstream) : AC004552.1 (37132 downstream)																							AGCTGGACGGCGCCTGCTAGC	0.637													C|||	170	0.0450331	0.1218	0.013	3775	,	,		10526	0.0		0.0	False		,,,				2504	0.0				p.R547H		Atlas-SNP	.											.	.	.	.	0			c.G1640A						PASS	.	C	HIS/ARG	385,2240		27,253,78,778,431	11	11	11		1640	-1	0	X	dbSNP_134	11	4,5486		0,4,0,1912,1658	yes	missense	FAM48B2	NM_001136233.1	29	27,257,78,2690,2089	TT,TC,T,CC,C		0.0729,14.6667,4.7936	possibly-damaging	547/818	24329793	389,7726	1567	3574	5141	SO:0001628	intergenic_variant	170067	exon1			GGACGGCGCCTGC																													X.37:g.24329793C>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	223	129	0.578475	NM_001136233		Missense_Mutation	SNP		37																																																																																				C|0.963;T|0.037	0.037	strong	0	0.637									T	24329793	C	T	24329793	1	4	22	0	1	0	0	0	0	0	0	0	5574	768	27	1		1	FAM48B2	23	24329793	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	14	24329793	130940767	11100	16208										
FAM48B2	170067	hgsc.bcm.edu	37	chrX	24329890	24329890	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcagcagctaaagcagGagcagcagcaggagcaggag	16	9	0	0	rs386824350|rs150066125		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24329890G>C								AC096509.1 (25096 upstream) : AC004552.1 (37035 downstream)																							gctaaagcaggagcagcagca	0.632													G|||	348	0.0921854	0.23	0.0447	3775	,	,		10384	0.001		0.0099	False		,,,				2504	0.002				p.P515A		Atlas-SNP	.											.	.	.	.	0			c.C1543G						PASS	.						10	9	9					X																	24329890		686	1583	2269	SO:0001628	intergenic_variant	170067	exon1			AAGCAGGAGCAGC																													X.37:g.24329890G>C		Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	280	138	0.492857	NM_001136233		Missense_Mutation	SNP		37																																																																																				G|0.925;C|0.075	0.075	strong	0	0.632									C	24329890	G	C	24329890	1	2	22	0	1	0	0	0	0	0	0	0	5574	1174	41	4		4	FAM48B2	23	24329890	IGR	SNP	G	TCGA-G8-6324-01A-11D-2210-10	97	24329890	130940670	11101	16209										
FAM48B2	170067	hgsc.bcm.edu	37	chrX	24331328	24331328	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcataaagtttttcctgcagAgtttttcccgccctaggtga	8	10	1	2	rs150934306		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24331328A>G								AC096509.1 (26534 upstream) : AC004552.1 (35597 downstream)																							TTTCCTGCAGAGTTTTTCCCG	0.418													A|||	233	0.0617219	0.1452	0.0403	3775	,	,		14543	0.001		0.0099	False		,,,				2504	0.002				p.T35T		Atlas-SNP	.											.	.	.	.	0			c.T105C						PASS	.	A		461,2166		36,299,90,724,419	79	72	74		105	-1.7	0	X	dbSNP_134	74	115,5383		0,82,33,1834,1633	no	coding-synonymous	FAM48B2	NM_001136233.1		36,381,123,2558,2052	GG,GA,G,AA,A		2.0917,17.5485,7.0892		35/818	24331328	576,7549	1568	3582	5150	SO:0001628	intergenic_variant	170067	exon1			CTGCAGAGTTTTT																													X.37:g.24331328A>G		Somatic	524	2	0.00381679		WXS	Illumina HiSeq	Phase_I	562	221	0.393238	NM_001136233		Silent	SNP		37																																																																																				A|0.947;G|0.053	0.053	strong	0	0.418									G	24331328	A	G	24331328	1	3	22	0	1	0	0	0	0	0	0	0	5574	291	11	3		3	FAM48B2	23	24331328	IGR	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1438	24331328	130939232	11102	16210										
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382374	24382385	+	IGR	DEL	TGCTGCTGCTGC	TGCTGCTGCTGC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttctgctgctgctgctatTgctgctgctgctgctgctgc					rs371342199		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TGCTGCTGCTGC	TGCTGCTGCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24382374_24382385delTGCTGCTGCTGC								AC004552.1 (15351 upstream) : PDK3 (100952 downstream)																							ctgctgctattgctgctgctgctgctgctgct	0.575																																					p.499_503del		Atlas-Indel	.											.	.	.	.	0			c.1496_1507del						PASS	.																																			SO:0001628	intergenic_variant	100130302	exon1			.																													X.37:g.24382374_24382385delTGCTGCTGCTGC		Somatic	393	0	0		WXS	Illumina HiSeq	Phase_I	418	131	0.313397	NM_001136234		In_Frame_Del	DEL		37																																																																																				.	.	alt	0	0.575									-	24382385	TGCTGCTGCTGC	-	24382374	6	5	22	0	1	1	0	1	0	0	0	0	5573	1800	63	0		0	FAM48B1	23	24382374	IGR	DEL	TGCTGCTGCTGC	TCGA-G8-6324-01A-11D-2210-10	51046	24382374	130888186	11103	16211										
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24383061	24383061	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccagggccacagggttcCgcactaggtttgagcacgca	13	13	0	1	rs11796308	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24383061C>T								AC004552.1 (16038 upstream) : PDK3 (100276 downstream)																							CACAGGGTTCCGCACTAGGTT	0.627													C|||	1092	0.289272	0.4735	0.1628	3775	,	,		12939	0.0794		0.0686	False		,,,				2504	0.2086				p.S728S		Atlas-SNP	.											.	.	.	.	0			c.C2184T						PASS	.	C		1369,1258		312,492,253,255,256	37	37	37		2184	-6.4	0	X	dbSNP_120	37	578,4920		24,346,184,1546,1482	no	coding-synonymous	FAM48B1	NM_001136234.1		336,838,437,1801,1738	TT,TC,T,CC,C		10.5129,47.8873,23.9631		728/888	24383061	1947,6178	1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			GGGTTCCGCACTA																													X.37:g.24383061C>T		Somatic	446	2	0.00448431		WXS	Illumina HiSeq	Phase_I	498	249	0.5	NM_001136234		Silent	SNP		37																																																																																				C|0.719;0|0.006	.	strong	0	0.627									T	24383061	C	T	24383061	1	4	22	0	1	0	0	0	0	0	0	0	5573	639	23	1		1	FAM48B1	23	24383061	IGR	SNP	C	TCGA-G8-6324-01A-11D-2210-10	687	24383061	130887499	11104	16212										
PCYT1B	9468	hgsc.bcm.edu	37	chrX	24637193	24637193	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagcaaatggggcaggtgcAgtcagggtctagaagggaga	17	6	3	2	rs7060616	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:24637193A>C	ENST00000379144.2	-	2	256	c.126T>G	c.(124-126)acT>acG	p.T42T	PCYT1B_ENST00000356768.4_Silent_p.T42T|PCYT1B_ENST00000379145.1_Silent_p.T24T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	42					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGGCAGGTGCAGTCAGGGTCT	0.488													A|||	397	0.105166	0.2761	0.0303	3775	,	,		13195	0.0		0.008	False		,,,				2504	0.0031				p.T42T		Atlas-SNP	.											.	PCYT1B	88	.	0			c.T126G						PASS	.	A	,,	1367,2468		221,714,211,697,360	98	85	89		72,126,126	-0.3	1	X	dbSNP_116	89	117,6610		1,82,33,2345,1838	no	coding-synonymous,coding-synonymous,coding-synonymous	PCYT1B	NM_001163264.1,NM_001163265.1,NM_004845.4	,,	222,796,244,3042,2198	CC,CA,C,AA,A		1.7393,35.6454,14.0504	,,	24/352,42/331,42/370	24637193	1484,9078	2203	4299	6502	SO:0001819	synonymous_variant	9468	exon2			AGGTGCAGTCAGG	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.126T>G	X.37:g.24637193A>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	155	78	0.503226	NM_004845	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Silent	SNP	ENST00000379144.2	37	CCDS14213.1																																																																																			A|0.861;C|0.139	0.139	strong		0.488	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		C	24637193	A	C	24637193	2	2	22	1	0	0	0	0	0	0	0	1	11611	175	7	5		5	PCYT1B	23	24637193	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	254132	24637193	130633367	11105	16213										
DCAF8L2	347442	hgsc.bcm.edu	37	chrX	27765405	27765405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggaggaggaggaagaggaGgaggaggaggaggaggagga	27	0	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:27765405G>A	ENST00000451261.2	+	5	792	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	131	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaagaggaggaggaggagg	0.562																																					p.E131E		Atlas-SNP	.											.	DCAF8L2	79	.	0			c.G393A						PASS	.						20	18	18					X																	27765405		692	1587	2279	SO:0001819	synonymous_variant	347442	exon1			AGAGGAGGAGGAG		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.393G>A	X.37:g.27765405G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	56	7	0.125	NM_001136533	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.	.	none		0.562	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765405	G	A	27765405	2	1	22	1	0	0	0	0	0	0	0	1	4278	991	35	2		2	DCAF8L2	23	27765405	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3128212	27765405	127505155	11106	16214										
DCAF8L2	347442	hgsc.bcm.edu	37	chrX	27766474	27766474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagtgagtttgtagtgagcGgtagtgattgcgggcacatc	17	5	0	3	rs375048390		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:27766474G>A	ENST00000451261.2	+	5	1861	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	488										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTAGTGAGCGGTAGTGATTG	0.438													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15465	0.0		0.0	False		,,,				2504	0.0				p.G488S		Atlas-SNP	.											.	DCAF8L2	79	.	0			c.G1462A						PASS	.	G	SER/GLY	2,1207		0,1,1,516,174	86	63	70		1462	3.8	0.8	X		70	0,2391		0,0,0,800,791	no	missense	DCAF8L2	NM_001136533.1	56	0,1,1,1316,965	AA,AG,A,GG,G		0.0,0.1654,0.0556	probably-damaging	488/632	27766474	2,3598	692	1591	2283	SO:0001583	missense	347442	exon1			GTGAGCGGTAGTG		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1462G>A	X.37:g.27766474G>A	ENSP00000462745:p.Gly488Ser	Somatic	295	1	0.00338983		WXS	Illumina HiSeq	Phase_I	250	138	0.552	NM_001136533	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.	.	weak		0.438	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27766474	G	A	27766474	3	1	22	1	0	0	0	0	1	0	0	0	4278	1116	39	1	1464	1	DCAF8L2	23	27766474	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1069	27766474	127504086	11107	16215										
MAGEB10	139422	hgsc.bcm.edu	37	chrX	27839572	27839572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcttgtttgaaggatgtttTccagagttcacttgatgggg	13	5	1	3	rs1368769	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:27839572T>C	ENST00000356790.2	+	3	394	c.149T>C	c.(148-150)tTc>tCc	p.F50S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	50			F -> S (in dbSNP:rs1368769). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGGATGTTTTCCAGAGTTCA	0.517													C|||	1304	0.34543	0.3775	0.2248	3775	,	,		13537	0.0645		0.3827	False		,,,				2504	0.2035				p.F50S		Atlas-SNP	.											.	MAGEB10	107	.	0			c.T149C						PASS	.	C	SER/PHE	1913,1920		398,834,283,399,288	57	49	52		149	1.5	0	X	dbSNP_88	52	3580,3148		693,1196,998,539,874	yes	missense	MAGEB10	NM_182506.3	155	1091,2030,1281,938,1162	CC,CT,C,TT,T		46.7895,49.9087,47.9879	benign	50/348	27839572	5493,5068	2202	4300	6502	SO:0001583	missense	139422	exon3			ATGTTTTCCAGAG		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.149T>C	X.37:g.27839572T>C	ENSP00000368304:p.Phe50Ser	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	126	51	0.404762	NM_182506	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	604	0.3640747438215793	137	0.3549222797927461	64	0.2119205298013245	25	0.04562043795620438	199	0.33728813559322035	C	0.077	-1.191488	0.01607	0.499087	0.532105	ENSG00000177689	ENST00000356790	T	0.04156	3.69	2.37	1.45	0.22620	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	8	0.02654	T	1	.	3.2031	0.06656	0.0:0.524:0.2915:0.1845	rs1368769;rs59237909;rs1368769	50	Q96LZ2	MAGBA_HUMAN	S	50	ENSP00000368304:F50S	ENSP00000368304:F50S	F	+	2	0	MAGEB10	27749493	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.595000	0.05727	0.002000	0.14630	-0.416000	0.06073	TTC	0|0.029;C|0.421	0.421	strong		0.517	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		C	27839572	T	C	27839572	3	2	22	1	0	0	0	0	1	0	0	0	9173	1783	62	2	151	2	MAGEB10	23	27839572	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73098	27839572	127430988	11108	16216										
MAGEB2	4113	hgsc.bcm.edu	37	chrX	30237003	30237003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcccaggcctcaacatcCactaagagcccaagcgaaga	7	16	1	2	rs2074793|rs386824543	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:30237003C>T	ENST00000378988.4	+	2	407	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	102										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCTCAACATCCACTAAGAGCC	0.483													T|||	1221	0.323444	0.4281	0.3098	3775	,	,		15119	0.0298		0.2724	False		,,,				2504	0.1391				p.S102S		Atlas-SNP	.											.	MAGEB2	133	.	0			c.C306T						PASS	.	T		2081,1752		479,806,317,346,254	40	40	40		306	0.1	0	X	dbSNP_96	40	2654,4074		388,1148,730,892,1142	no	coding-synonymous	MAGEB2	NM_002364.4		867,1954,1047,1238,1396	TT,TC,T,CC,C		39.4471,45.7083,44.8348		102/320	30237003	4735,5826	2202	4300	6502	SO:0001819	synonymous_variant	4113	exon2			AACATCCACTAAG	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.306C>T	X.37:g.30237003C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	170	75	0.441176	NM_002364	O75860	Silent	SNP	ENST00000378988.4	37	CCDS14219.1																																																																																			C|0.599;0|0.003	.	strong		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		T	30237003	C	T	30237003	2	4	22	1	0	0	0	0	0	0	0	1	9176	581	21	2		2	MAGEB2	23	30237003	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2397431	30237003	125033557	11109	16217										
FTHL17	53940	hgsc.bcm.edu	37	chrX	31089628	31089628	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctcacgtagccacccagcTctttgatggtcttgacttgc					rs7058123	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31089628T>A	ENST00000359202.3	-	1	542	c.443A>T	c.(442-444)gAg>gTg	p.E148V		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	148	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCCACCCAGCTCTTTGATGGT	0.612													T|||	228	0.0603974	0.0129	0.0	3775	,	,		13717	0.1101		0.001	False		,,,				2504	0.1012				p.E148V		Atlas-SNP	.											.	FTHL17	99	.	0			c.A443T						PASS	.	T	VAL/GLU	65,3768		1,57,6,1573,565	72	61	65		443	3.7	0	X	dbSNP_116	65	4,6724		0,3,1,2425,1871	yes	missense	FTHL17	NM_031894.2	121	1,60,7,3998,2436	AA,AT,A,TT,T		0.0595,1.6958,0.6533	probably-damaging	148/184	31089628	69,10492	2202	4300	6502	SO:0001583	missense	53940	exon1			CCCAGCTCTTTGA	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.443A>T	X.37:g.31089628T>A	ENSP00000368207:p.Glu148Val	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	194	109	0.561856	NM_031894	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	73	0.044002411091018684	8	0.01652892561983471	0	0.0	37	0.07142857142857142	1	0.0013192612137203166	T	18.77	3.694430	0.68386	0.016958	5.95E-4	ENSG00000132446	ENST00000359202	T	0.65916	-0.18	3.67	3.67	0.42095	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.182095	0.47852	D	0.000214	T	0.24586	0.0596	M	0.82630	2.6	0.09310	P	0.99999247289	D	0.76494	0.999	D	0.74023	0.982	T	0.70684	-0.4804	9	0.72032	D	0.01	.	9.8188	0.40869	0.0:0.0:0.0:1.0	rs7058123	148	Q9BXU8	FHL17_HUMAN	V	148	ENSP00000368207:E148V	ENSP00000368207:E148V	E	-	2	0	FTHL17	30999549	1.000000	0.71417	0.032000	0.17829	0.018000	0.09664	7.314000	0.78988	1.675000	0.50919	0.441000	0.28932	GAG	T|0.982;A|0.018	0.018	strong		0.612	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		A	31089628	T	A	31089628	3	1	22	1	0	0	0	0	1	0	0	0	6083	1551	54	5	112	5	FTHL17	23	31089628	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	852625	31089628	124180932	11110	16218	348	2								
FTHL17	53940	hgsc.bcm.edu	37	chrX	31089629	31089629	+	Nonsense_Mutation	SNP	C	C	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcacgtagccacccagctCtttgatggtcttgacttgct					rs7057057	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31089629C>A	ENST00000359202.3	-	1	541	c.442G>T	c.(442-444)Gag>Tag	p.E148*		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	148	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCACCCAGCTCTTTGATGGTC	0.617													C|||	228	0.0603974	0.0129	0.0	3775	,	,		13756	0.1101		0.001	False		,,,				2504	0.1012				p.E148X		Atlas-SNP	.											.	FTHL17	99	.	0			c.G442T						PASS	.	C	stop/GLU	66,3767		1,58,6,1572,565	72	61	65		442	1.8	0	X	dbSNP_116	65	4,6724		0,3,1,2425,1871	yes	stop-gained	FTHL17	NM_031894.2		1,61,7,3997,2436	AA,AC,A,CC,C		0.0595,1.7219,0.6628		148/184	31089629	70,10491	2202	4300	6502	SO:0001587	stop_gained	53940	exon1			CCAGCTCTTTGAT	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.442G>T	X.37:g.31089629C>A	ENSP00000368207:p.Glu148*	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	194	109	0.561856	NM_031894	Q6NT24|Q6NTE2	Nonsense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	72	0.0433996383363472	7	0.014462809917355372	0	0.0	37	0.07142857142857142	1	0.0013192612137203166	C	16.88	3.245665	0.59103	0.017219	5.95E-4	ENSG00000132446	ENST00000359202	.	.	.	3.67	1.78	0.24846	.	0.182095	0.47852	D	0.000214	.	.	.	.	.	.	0.09310	P	0.999999999993751	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.7889	0.46422	0.0:0.6803:0.3197:0.0	rs7057057	.	.	.	X	148	.	ENSP00000368207:E148X	E	-	1	0	FTHL17	30999550	0.006000	0.16342	0.016000	0.15963	0.017000	0.09413	0.069000	0.14552	0.335000	0.23614	0.544000	0.68410	GAG	C|0.982;A|0.018	0.018	strong		0.617	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		A	31089629	C	A	31089629	4	1	22	1	0	0	0	0	0	1	0	0	6083	922	32	4	113	4	FTHL17	23	31089629	Nonsense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	31089629	124180931	11111	16219	348	2								
FTHL17	53940	hgsc.bcm.edu	37	chrX	31089873	31089873	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcctcatcagcttctgggcAtgctccattttgtcgtccga	9	13	3	0	rs73617043	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31089873A>T	ENST00000359202.3	-	1	297	c.198T>A	c.(196-198)caT>caA	p.H66Q		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	66	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTTCTGGGCATGCTCCATTT	0.592													A|||	11	0.00291391	0.0083	0.0	3775	,	,		13041	0.0		0.0	False		,,,				2504	0.0				p.H66Q		Atlas-SNP	.											.	FTHL17	99	.	0			c.T198A						PASS	.	A	GLN/HIS	31,3802		0,27,4,1604,567	73	66	69		198	-3.3	0	X	dbSNP_130	69	0,6728		0,0,0,2428,1872	yes	missense	FTHL17	NM_031894.2	24	0,27,4,4032,2439	TT,TA,T,AA,A		0.0,0.8088,0.2935	benign	66/184	31089873	31,10530	2202	4300	6502	SO:0001583	missense	53940	exon1			CTGGGCATGCTCC	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.198T>A	X.37:g.31089873A>T	ENSP00000368207:p.His66Gln	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	186	87	0.467742	NM_031894	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	8	0.004822182037371911	5	0.0102880658436214	0	0.0	0	0.0	0	0.0	A	10.22	1.290499	0.23478	0.008088	0.0	ENSG00000132446	ENST00000359202	T	0.72051	-0.62	3.44	-3.29	0.05017	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.401704	0.26156	N	0.026011	T	0.48804	0.1520	M	0.70595	2.14	0.21220	N	0.999756	B	0.32800	0.385	B	0.29353	0.101	T	0.48822	-0.9001	10	0.59425	D	0.04	.	1.8231	0.03115	0.4037:0.1354:0.331:0.1299	.	66	Q9BXU8	FHL17_HUMAN	Q	66	ENSP00000368207:H66Q	ENSP00000368207:H66Q	H	-	3	2	FTHL17	30999794	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-1.291000	0.02775	-1.082000	0.03101	-1.413000	0.01118	CAT	A|0.996;T|0.004	0.004	strong		0.592	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		T	31089873	A	T	31089873	3	4	22	1	0	0	0	0	1	0	0	0	6083	214	8	5	357	5	FTHL17	23	31089873	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	244	31089873	124180687	11112	16220										
DMD	1756	hgsc.bcm.edu	37	chrX	31496426	31496426	+	Missense_Mutation	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatttttcccactcagtatTgacctcctcagcctgctttc					rs1800278	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31496426T>C	ENST00000357033.4	-	59	8940	c.8734A>G	c.(8734-8736)Aat>Gat	p.N2912D	DMD_ENST00000378707.3_Missense_Mutation_p.N452D|DMD_ENST00000541735.1_Missense_Mutation_p.N452D|DMD_ENST00000378677.2_Missense_Mutation_p.N2908D|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000343523.2_Missense_Mutation_p.N452D|DMD_ENST00000474231.1_Missense_Mutation_p.N452D|DMD_ENST00000359836.1_Missense_Mutation_p.N452D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2912			N -> D (in dbSNP:rs1800278). {ECO:0000269|PubMed:12359139}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACTCAGTATTGACCTCCTCA	0.493													T|||	140	0.0370861	0.0628	0.0202	3775	,	,		13854	0.0308		0.0099	False		,,,				2504	0.002				p.N2912D		Atlas-SNP	.											.	DMD	2127	.	0			c.A8734G	GRCh37	CM940361	DMD	M	rs1800278	PASS	.	T	ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN	276,3557		9,216,42,1406,529	72	68	69	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8710,8734,8365,8722,8365,4711,4702,1354,547,1354,1354,1354,1354	1.7	1	X	dbSNP_89	69	57,6671		0,39,18,2389,1854	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	23,23,23,23,23,23,23,23,23,23,23,23,23	9,255,60,3795,2383	CC,CT,C,TT,T		0.8472,7.2006,3.1531	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	2904/3678,2912/3686,2789/3563,2908/3682,2789/3563,1571/2345,1568/2342,452/1226,183/957,452/1116,452/1244,452/1231,452/1134	31496426	333,10228	2202	4300	6502	SO:0001583	missense	1756	exon59			CAGTATTGACCTC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8734A>G	X.37:g.31496426T>C	ENSP00000354923:p.Asn2912Asp	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	210	95	0.452381	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	65|65	0.03918022905364678|0.03918022905364678	23|23	0.04852320675105485|0.04852320675105485	6|6	0.016853932584269662|0.016853932584269662	9|9	0.01601423487544484|0.01601423487544484	8|8	0.010610079575596816|0.010610079575596816	T|T	12.09|12.09	1.833296|1.833296	0.32421|0.32421	0.072006|0.072006	0.008472|0.008472	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.4|5.4	1.66|1.66	0.24008|0.24008	.|.	0.359998|.	0.19479|.	U|.	0.113242|.	T|T	0.01189|0.01189	0.0039|0.0039	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	P|P	5.000000000032756E-6|5.000000000032756E-6	B;B;B;B;B;B;B;B;B;B;B|.	0.30482|.	0.281;0.081;0.0;0.081;0.081;0.007;0.019;0.019;0.167;0.257;0.101|.	B;B;B;B;B;B;B;B;B;B;B|.	0.43701|.	0.428;0.021;0.0;0.014;0.014;0.026;0.012;0.012;0.045;0.074;0.122|.	T|T	0.17137|0.17137	-1.0379|-1.0379	9|4	0.33141|.	T|.	0.24|.	.|.	1.6458|1.6458	0.02761|0.02761	0.139:0.1519:0.1415:0.5676|0.139:0.1519:0.1415:0.5676	rs1800278;rs17340811;rs1800278|rs1800278;rs17340811;rs1800278	2904;2912;2908;1571;1568;452;452;452;452;452;2789|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	D|R	2904;1571;1568;608;2908;2912;452;452;2912;2789;452;452;452|640	ENSP00000350765:N608D;ENSP00000367948:N2908D;ENSP00000354923:N2912D;ENSP00000352894:N452D;ENSP00000340057:N452D;ENSP00000367979:N452D;ENSP00000444119:N452D;ENSP00000417123:N452D|.	ENSP00000340057:N452D|.	N|Q	-|-	1|2	0|0	DMD|DMD	31406347|31406347	0.025000|0.025000	0.19082|0.19082	0.980000|0.980000	0.43619|0.43619	0.997000|0.997000	0.91878|0.91878	0.508000|0.508000	0.22692|0.22692	0.276000|0.276000	0.22118|0.22118	0.430000|0.430000	0.28490|0.28490	AAT|CAA	T|0.963;0|0.002	.	strong		0.493	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	31496426	T	C	31496426	3	2	22	1	0	0	0	0	1	0	0	0	4580	1812	63	2	2521	2	DMD	23	31496426	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	406553	31496426	123774134	11113	16221	349	2								
DMD	1756	hgsc.bcm.edu	37	chrX	31496431	31496431	+	Missense_Mutation	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttcccactcagtattgaccTcctcagcctgctttcgtaga					rs41305353	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31496431T>A	ENST00000357033.4	-	59	8935	c.8729A>T	c.(8728-8730)gAg>gTg	p.E2910V	DMD_ENST00000378707.3_Missense_Mutation_p.E450V|DMD_ENST00000541735.1_Missense_Mutation_p.E450V|DMD_ENST00000378677.2_Missense_Mutation_p.E2906V|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000343523.2_Missense_Mutation_p.E450V|DMD_ENST00000474231.1_Missense_Mutation_p.E450V|DMD_ENST00000359836.1_Missense_Mutation_p.E450V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2910			E -> V (in dbSNP:rs41305353). {ECO:0000269|PubMed:12359139}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTATTGACCTCCTCAGCCTG	0.488													T|||	135	0.0357616	0.059	0.0202	3775	,	,		14080	0.0308		0.0099	False		,,,				2504	0.002				p.E2910V		Atlas-SNP	.											.	DMD	2127	.	0			c.A8729T	GRCh37	CM940360	DMD	M	rs41305353	PASS	.	T	VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU	263,3570		7,210,39,1414,532	73	69	70	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8705,8729,8360,8717,8360,4706,4697,1349,542,1349,1349,1349,1349	5.4	1	X	dbSNP_127	70	57,6671		0,39,18,2389,1854	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	121,121,121,121,121,121,121,121,121,121,121,121,121	7,249,57,3803,2386	AA,AT,A,TT,T		0.8472,6.8615,3.03	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	2902/3678,2910/3686,2787/3563,2906/3682,2787/3563,1569/2345,1566/2342,450/1226,181/957,450/1116,450/1244,450/1231,450/1134	31496431	320,10241	2202	4300	6502	SO:0001583	missense	1756	exon59			TTGACCTCCTCAG	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8729A>T	X.37:g.31496431T>A	ENSP00000354923:p.Glu2910Val	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	207	95	0.458937	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	65	0.03918022905364678	23	0.04852320675105485	6	0.016853932584269662	9	0.01601423487544484	8	0.010610079575596816	T	23.5	4.422122	0.83559	0.068615	0.008472	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.4	5.4	0.78164	.	0.192432	0.24391	U	0.038930	T	0.02688	0.0081	N	0.12471	0.22	0.21861	P	0.999507306	B;P;D;P;P;B;B;B;P;D;P	0.57899	0.119;0.93;0.981;0.93;0.93;0.005;0.075;0.075;0.93;0.958;0.481	B;P;P;B;B;B;B;B;P;P;B	0.52109	0.268;0.462;0.69;0.368;0.368;0.007;0.061;0.083;0.462;0.663;0.316	T	0.16424	-1.0403	9	0.38643	T	0.18	.	14.6815	0.69020	0.0:0.0:0.0:1.0	rs41305353	2902;2910;2906;1569;1566;450;450;450;450;450;2787	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	V	2902;1569;1566;606;2906;2910;450;450;2910;2787;450;450;450	ENSP00000350765:E606V;ENSP00000367948:E2906V;ENSP00000354923:E2910V;ENSP00000352894:E450V;ENSP00000340057:E450V;ENSP00000367979:E450V;ENSP00000444119:E450V;ENSP00000417123:E450V	ENSP00000340057:E450V	E	-	2	0	DMD	31406352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	1.916000	0.55485	0.430000	0.28490	GAG	T|0.792;A|0.208	0.208	strong		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	31496431	T	A	31496431	3	1	22	1	0	0	0	0	1	0	0	0	4580	1551	54	5	2526	5	DMD	23	31496431	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5	31496431	123774129	11114	16222	349	2								
DMD	1756	hgsc.bcm.edu	37	chrX	31893307	31893307	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcaaaaagttccctacctTaacgtcaaatggtccttctt	5	11	2	0	rs1800275	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:31893307T>G	ENST00000357033.4	-	48	7302	c.7096A>C	c.(7096-7098)Aag>Cag	p.K2366Q	DMD_ENST00000378677.2_Missense_Mutation_p.K2362Q|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2366			K -> Q (in dbSNP:rs1800275). {ECO:0000269|PubMed:12359139, ECO:0000269|PubMed:3282674}.|Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCCTACCTTAACGTCAAAT	0.313													T|||	692	0.183311	0.1135	0.3314	3775	,	,		12761	0.0774		0.1581	False		,,,				2504	0.0767				.		Atlas-SNP	.											.	DMD	2127	.	0			c.7083+1A>C						PASS	.	T	GLN/LYS,GLN/LYS,GLN/LYS,GLN/LYS,GLN/LYS,GLN/LYS,GLN/LYS,,,,,	696,3137		61,474,100,1096,471	68	50	56		7072,7096,6727,7084,6727,3073,3064,,,,,	5.2	1	X	dbSNP_89	56	1465,5262		133,789,410,1506,1461	yes	missense,missense,missense,missense,missense,missense,missense,utr-5,utr-5,utr-5,utr-5,utr-5	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	53,53,53,53,53,53,53,,,,,	194,1263,510,2602,1932	GG,GT,G,TT,T		21.7779,18.1581,20.464	benign,benign,benign,benign,benign,benign,benign,,,,,	2358/3678,2366/3686,2243/3563,2362/3682,2243/3563,1025/2345,1022/2342,,,,,	31893307	2161,8399	2202	4299	6501	SO:0001583	missense	1756	exon49			CTACCTTAACGTC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7096A>C	X.37:g.31893307T>G	ENSP00000354923:p.Lys2366Gln	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	178	83	0.466292	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	CCDS14233.1	337|337	0.20313441832429174|0.20313441832429174	46|46	0.09871244635193133|0.09871244635193133	77|77	0.25496688741721857|0.25496688741721857	31|31	0.05740740740740741|0.05740740740740741	86|86	0.12609970674486803|0.12609970674486803	T|T	15.07|15.07	2.722967|2.722967	0.48728|0.48728	0.181581|0.181581	0.217779|0.217779	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.36699|.	1.24;1.24;1.24|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.38778|.	U|.	0.001577|.	T|.	0.00012|.	0.0000|.	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	P|P	1.0|1.0	D;D;D;D;D|.	0.76494|.	0.999;0.998;0.998;0.998;0.998|.	D;D;D;D;D|.	0.80764|.	0.994;0.987;0.987;0.981;0.981|.	T|.	0.25152|.	-1.0140|.	9|.	0.24483|.	T|.	0.36|.	.|.	12.9094|12.9094	0.58171|0.58171	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs3198408|rs3198408	2358;2366;2362;1025;1022|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	Q|S	2358;1025;1022;62;2362;2366;2366;2243|94	ENSP00000350765:K62Q;ENSP00000367948:K2362Q;ENSP00000354923:K2366Q|.	ENSP00000354923:K2366Q|.	K|X	-|-	1|2	0|2	DMD|DMD	31803228|31803228	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.725000|0.725000	0.41563|0.41563	2.455000|2.455000	0.44988|0.44988	1.830000|1.830000	0.53286|0.53286	0.486000|0.486000	0.48141|0.48141	AAG|TAA	T|0.809;0|0.003	.	strong		0.313	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31893307	T	G	31893307	3	3	22	1	0	0	0	0	1	0	0	0	4580	1768	61	5	4237	5	DMD	23	31893307	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	396876	31893307	123377253	11115	16223										
DMD	1756	hgsc.bcm.edu	37	chrX	32466654	32466654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtttcaagttccttttttaaGgcctcttgtgctacaggtgg	10	8	2	0	rs143628111	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:32466654G>A	ENST00000357033.4	-	27	3911	c.3705C>T	c.(3703-3705)gcC>gcT	p.A1235A	DMD_ENST00000378677.2_Silent_p.A1231A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1235					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTTTTTTAAGGCCTCTTGTG	0.438													G|||	71	0.0188079	0.0537	0.0	3775	,	,		13391	0.0		0.0	False		,,,				2504	0.0				p.A1235A		Atlas-SNP	.											.	DMD	2127	.	0			c.C3705T						PASS	.	G	,,,,	183,3650		3,143,34,1485,537	199	158	172		3681,3705,3336,3693,3336	4	1	X	dbSNP_134	172	2,6725		0,2,0,2426,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	3,145,34,3911,2408	AA,AG,A,GG,G		0.0297,4.7743,1.7519	,,,,	1227/3678,1235/3686,1112/3563,1231/3682,1112/3563	32466654	185,10375	2202	4299	6501	SO:0001819	synonymous_variant	1756	exon27			TTTTAAGGCCTCT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3705C>T	X.37:g.32466654G>A		Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	258	127	0.492248	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																			G|0.983;A|0.017	0.017	strong		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	32466654	G	A	32466654	2	1	22	1	0	0	0	0	0	0	0	1	4580	987	35	2		2	DMD	23	32466654	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	573347	32466654	122803906	11116	16224										
DMD	1756	hgsc.bcm.edu	37	chrX	32716110	32716110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatccctgtgctagactgacCgtgatctgcagagaagggtt	12	9	1	4	rs1800265	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:32716110C>T	ENST00000357033.4	-	9	1043	c.837G>A	c.(835-837)acG>acA	p.T279T	DMD_ENST00000288447.4_Silent_p.T271T|DMD_ENST00000378677.2_Silent_p.T275T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	279			T -> A (in CMD3B). {ECO:0000269|PubMed:9170407}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTAGACTGACCGTGATCTGCA	0.488													T|||	570	0.150993	0.3805	0.0865	3775	,	,		11752	0.002		0.002	False		,,,				2504	0.0031				p.T279T		Atlas-SNP	.											.	DMD	2127	.	0			c.G837A						PASS	.	T	,,,,	1838,1995		386,779,287,466,284	105	73	84		813,837,468,825,468	-1.6	1	X	dbSNP_89	84	21,6701		0,17,4,2410,1864	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	386,796,291,2876,2148	TT,TC,T,CC,C		0.3124,47.952,17.6125	,,,,	271/3678,279/3686,156/3563,275/3682,156/3563	32716110	1859,8696	2202	4295	6497	SO:0001819	synonymous_variant	1756	exon9			ACTGACCGTGATC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.837G>A	X.37:g.32716110C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	150	77	0.513333	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																			C|0.852;T|0.148	0.148	strong		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32716110	C	T	32716110	2	4	22	1	0	0	0	0	0	0	0	1	4580	639	23	1		1	DMD	23	32716110	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	249456	32716110	122554450	11117	16225										
TMEM47	83604	hgsc.bcm.edu	37	chrX	34674970	34674970	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgtccaagctggcgggtttCcggcaggactcccacaacga	12	13	0	0	rs5928617	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:34674970C>G	ENST00000275954.3	-	1	435	c.177G>C	c.(175-177)cgG>cgC	p.R59R		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	59						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGGCGGGTTTCCGGCAGGACT	0.701													c|||	1579	0.418278	0.2693	0.2767	3775	,	,		7571	0.4871		0.1839	False		,,,				2504	0.363				p.R59R		Atlas-SNP	.											.	TMEM47	45	.	0			c.G177C						PASS	.			1082,2667		151,638,142,824,381	20	16	18		177	2.9	1	X	dbSNP_114	18	1592,4993		154,842,442,1395,1361	no	coding-synonymous	TMEM47	NM_031442.3		305,1480,584,2219,1742	GG,GC,G,CC,C		24.1762,28.861,25.8757		59/182	34674970	2674,7660	2136	4194	6330	SO:0001819	synonymous_variant	83604	exon1			GGGTTTCCGGCAG	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.177G>C	X.37:g.34674970C>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	166	85	0.512048	NM_031442	Q5JR44	Silent	SNP	ENST00000275954.3	37	CCDS14235.1																																																																																			C|0.689;G|0.311	0.311	strong		0.701	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		G	34674970	C	G	34674970	2	3	22	1	0	0	0	0	0	0	0	1	16168	842	30	4		4	TMEM47	23	34674970	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1958860	34674970	120595590	11118	16226										
CXorf59	286464	hgsc.bcm.edu	37	chrX	36162684	36162685	+	Frame_Shift_Ins	INS	-	-	TG													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttgtttctaggtgtgtcINStgagggtgtttccaaaggag					rs372871921|rs112700338		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:36162684_36162685insTG	ENST00000313548.4	+	11	1453_1454	c.1267_1268insTG	c.(1267-1269)ctgfs	p.L423fs		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	423	CH.					integral component of membrane (GO:0016021)											ctaggtgtgtctgagggtgttt	0.436														1488	0.394172	0.5832	0.2752	3775	,	,		11883	0.2272		0.0616	False		,,,				2504	0.2403				p.L423fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.1267_1268insTG						PASS	.			2585,1136		761,686,377,145,160						0.7	0.1		dbSNP_130	111	478,6006		11,322,134,2024,1636	no	frameshift	CXorf59	NM_173695.2		772,1008,511,2169,1796	A1A1,A1R,A1,RR,R		7.372,30.5294,30.0147				3063,7142				SO:0001589	frameshift_variant	286464	exon11			.	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1268_1269dupTG	X.37:g.36162685_36162686dupTG	ENSP00000324767:p.Leu423fs	Somatic	106	.	.		WXS	Illumina HiSeq	Phase_I	87	54	0.621	NM_173695		Frame_Shift_Ins	INS	ENST00000313548.4	37	CCDS14238.1																																																																																			TG|1.000;|0.000	1.000	weak		0.436	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		TG	36162685	-	TG	36162684	7	5	22	1	0	1	1	0	0	0	0	0	4115	912	32	0	1305	0	CXorf59	23	36162684	Frame_Shift_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	1487714	36162684	119107876	11119	16227										
FAM47C	442444	hgsc.bcm.edu	37	chrX	37028127	37028127	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcgtatctcatctccgcccAgagcctcctgagactggagt	10	14	2	2	rs73631164	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37028127A>G	ENST00000358047.3	+	1	1696	c.1644A>G	c.(1642-1644)ccA>ccG	p.P548P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	548										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCAGAGCCTCCTG	0.612													-|||	1420	0.376159	0.6589	0.245	3775	,	,		12948	0.0982		0.0785	False		,,,				2504	0.2055				p.P548P		Atlas-SNP	.											.	FAM47C	267	.	0			c.A1644G						PASS	.	A		2974,859		997,539,441,95,130	61	67	65		1644	-3.3	0	X	dbSNP_130	65	782,5946		26,498,232,1904,1640	no	coding-synonymous	FAM47C	NM_001013736.2		1023,1037,673,1999,1770	GG,GA,G,AA,A		11.6231,22.4106,35.5648		548/1036	37028127	3756,6805	2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			CCGCCCAGAGCCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1644A>G	X.37:g.37028127A>G		Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	207	199	0.961353	NM_001013736	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																			A|0.644;G|0.356	0.356	strong		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		G	37028127	A	G	37028127	2	3	22	1	0	0	0	0	0	0	0	1	5571	175	7	3		3	FAM47C	23	37028127	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	865443	37028127	118242433	11120	16228										
FAM47C	442444	hgsc.bcm.edu	37	chrX	37028762	37028762	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcttgagactcgcgtatCtcatctccgcccggagcctc	9	17	3	1	rs61730910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37028762C>G	ENST00000358047.3	+	1	2331	c.2279C>G	c.(2278-2280)tCt>tGt	p.S760C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	760										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGCGTATCTCATCTCCGC	0.632													c|||	23	0.00609272	0.0166	0.0014	3775	,	,		11549	0.0		0.0	False		,,,				2504	0.0				p.S760C		Atlas-SNP	.											.	FAM47C	267	.	0			c.C2279G						PASS	.	C	CYS/SER	66,3767		3,52,8,1576,563	46	44	45		2279	0.9	0	X	dbSNP_129	45	0,6728		0,0,0,2428,1872	yes	missense	FAM47C	NM_001013736.2	112	3,52,8,4004,2435	GG,GC,G,CC,C		0.0,1.7219,0.6249	probably-damaging	760/1036	37028762	66,10495	2202	4300	6502	SO:0001583	missense	442444	exon1			GCGTATCTCATCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2279C>G	X.37:g.37028762C>G	ENSP00000367913:p.Ser760Cys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	150	80	0.533333	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	8	0.004822182037371911	6	0.012244897959183673	1	0.0027624309392265192	0	0.0	0	0.0	-	5.654	0.305291	0.10678	0.017219	0.0	ENSG00000198173	ENST00000358047	T	0.20332	2.08	0.895	0.895	0.19247	.	.	.	.	.	T	0.21631	0.0521	M	0.81341	2.54	0.09310	N	1	D	0.58268	0.982	P	0.58873	0.847	T	0.08932	-1.0698	9	0.62326	D	0.03	.	3.8459	0.08934	0.0:0.67:0.0:0.33	rs61730910	760	Q5HY64	FA47C_HUMAN	C	760	ENSP00000367913:S760C	ENSP00000367913:S760C	S	+	2	0	FAM47C	36938683	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.436000	0.21526	0.163000	0.19507	0.165000	0.16767	TCT	C|0.993;G|0.007	0.007	strong		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		G	37028762	C	G	37028762	3	3	22	1	0	0	0	0	1	0	0	0	5571	913	32	4	2281	4	FAM47C	23	37028762	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	635	37028762	118241798	11121	16229										
FAM47C	442444	hgsc.bcm.edu	37	chrX	37029254	37029254	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggacgggaaaatccagaAtgcaccaaattctcatagtg	9	9	1	1	rs1995914	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37029254A>C	ENST00000358047.3	+	1	2823	c.2771A>C	c.(2770-2772)aAt>aCt	p.N924T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	924			N -> T (in dbSNP:rs1995914).							breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAAATCCAGAATGCACCAAAT	0.453													N|||	1396	0.369801	0.6445	0.2392	3775	,	,		15358	0.0982		0.0785	False		,,,				2504	0.2045				p.N924T		Atlas-SNP	.											.	FAM47C	267	.	0			c.A2771C						PASS	.	C	THR/ASN	2991,842		1003,538,447,90,124	85	87	86		2771	-1.7	0	X	dbSNP_92	86	783,5945		26,499,232,1903,1640	yes	missense	FAM47C	NM_001013736.2	65	1029,1037,679,1993,1764	CC,CA,C,AA,A		11.6379,21.9671,35.7353	benign	924/1036	37029254	3774,6787	2202	4300	6502	SO:0001583	missense	442444	exon1			TCCAGAATGCACC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2771A>C	X.37:g.37029254A>C	ENSP00000367913:p.Asn924Thr	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	174	172	0.988506	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	495	0.298372513562387	216	0.7058823529411765	54	0.16981132075471697	37	0.06801470588235294	43	0.05922865013774105	C	0.001	-3.759422	0.00005	0.780329	0.116379	ENSG00000198173	ENST00000358047	T	0.42131	0.98	0.829	-1.66	0.08265	.	.	.	.	.	T	0.00012	0.0000	N	0.00823	-1.155	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45789	-0.9237	7	0.14252	T	0.57	.	.	.	.	rs1995914;rs52815039;rs59553201;rs1995914	924	Q5HY64	FA47C_HUMAN	T	924	ENSP00000367913:N924T	ENSP00000367913:N924T	N	+	2	0	FAM47C	36939175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.842000	0.04354	-4.876000	0.00028	-4.602000	0.00004	AAT	A|0.631;C|0.369	0.369	strong		0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		C	37029254	A	C	37029254	3	2	22	1	0	0	0	0	1	0	0	0	5571	101	4	5	2773	5	FAM47C	23	37029254	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	492	37029254	118241306	11122	16230										
CYBB	1536	hgsc.bcm.edu	37	chrX	37663234	37663234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagtgcccaaaggtgtccaaGctggagtggcacccttttac	11	11	0	0	rs2228117	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37663234G>A	ENST00000378588.4	+	9	1069	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Silent_p.K302K|CYBB_ENST00000536160.1_Silent_p.K67K	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	334	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AGGTGTCCAAGCTGGAGTGGC	0.483													G|||	110	0.0291391	0.0719	0.0216	3775	,	,		14198	0.0		0.0	False		,,,				2504	0.0				p.K334K		Atlas-SNP	.											.	CYBB	62	.	0			c.G1002A						PASS	.	G		707,3126		70,466,101,1095,470	110	99	103		1002	-2.1	0.2	X	dbSNP_98	103	2,6726		0,2,0,2426,1872	no	coding-synonymous	CYBB	NM_000397.3		70,468,101,3521,2342	AA,AG,A,GG,G		0.0297,18.4451,6.7134		334/571	37663234	709,9852	2202	4300	6502	SO:0001819	synonymous_variant	1536	exon9			GTCCAAGCTGGAG	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1002G>A	X.37:g.37663234G>A		Somatic	324	1	0.00308642		WXS	Illumina HiSeq	Phase_I	367	190	0.517711	NM_000397	A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	CCDS14242.1																																																																																			0|0.006;A|0.061	0.061	strong		0.483	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			A	37663234	G	A	37663234	2	1	22	1	0	0	0	0	0	0	0	1	4133	962	34	2		2	CYBB	23	37663234	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	633980	37663234	117607326	11123	16231										
DYNLT3	6990	hgsc.bcm.edu	37	chrX	37701048	37701048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tacttaccaatatatttataGgcttttcccaacttaaccag	3	10	0	0	rs11771	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37701048G>A	ENST00000378578.4	-	3	309	c.183C>T	c.(181-183)gcC>gcT	p.A61A	TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000378581.3_Silent_p.A61A|DYNLT3_ENST00000432389.2_Silent_p.A67A	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	61					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	motor activity (GO:0003774)			endometrium(1)|lung(1)|skin(1)	3						TATATTTATAGGCTTTTCCCA	0.363													A|||	1325	0.350993	0.5477	0.1571	3775	,	,		10720	0.1825		0.1183	False		,,,				2504	0.1933				p.A61A		Atlas-SNP	.											.	DYNLT3	9	.	0			c.C183T						PASS	.	A		2474,1359		683,737,371,211,200	129	118	122		183	2.6	1	X	dbSNP_52	122	1043,5685		52,652,287,1724,1585	no	coding-synonymous	DYNLT3	NM_006520.2		735,1389,658,1935,1785	AA,AG,A,GG,G		15.5024,35.4553,33.3018		61/117	37701048	3517,7044	2202	4300	6502	SO:0001819	synonymous_variant	6990	exon3			TTTATAGGCTTTT	U02556	CCDS14243.1	Xp21	2013-01-18	2005-11-25	2005-11-25	ENSG00000165169	ENSG00000165169		"Cytoplasmic dyneins"	11694	protein-coding gene	gene with protein product		300302	"t-complex-associated-testis-expressed 1-like"	TCTE1L		8004092	Standard	NM_006520		Approved	TCTEX1L	uc004dds.3	P51808	OTTHUMG00000033172	ENST00000378578.4:c.183C>T	X.37:g.37701048G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	89	88	0.988764	NM_006520	Q6ICS3	Silent	SNP	ENST00000378578.4	37	CCDS14243.1																																																																																			G|0.663;0|0.004	.	strong		0.363	DYNLT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080876.1	NM_006520		A	37701048	G	A	37701048	2	1	22	1	0	0	0	0	0	0	0	1	4853	987	35	2		2	DYNLT3	23	37701048	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37814	37701048	117569512	11124	16232										
CXorf27	25763	hgsc.bcm.edu	37	chrX	37850385	37850385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaccgtgagccccacagcgCtgagagtgatgtgactcgct	12	13	0	4	rs61737321		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37850385C>T	ENST00000341016.3	+	1	316	c.293C>T	c.(292-294)gCt>gTt	p.A98V	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		98										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CCCCACAGCGCTGAGAGTGAT	0.527													C|||	50	0.013245	0.0356	0.0043	3775	,	,		15106	0.0		0.0	False		,,,				2504	0.0				p.A98V		Atlas-SNP	.											.	CXorf27	14	.	0			c.C293T						PASS	.	C	VAL/ALA	116,3567		3,85,25,1468,546	99	104	102		293	-6.5	0	X	dbSNP_129	102	0,6600		0,0,0,2392,1816	yes	missense	CXorf27	NM_012274.1	64	3,85,25,3860,2362	TT,TC,T,CC,C		0.0,3.1496,1.1281	benign	98/118	37850385	116,10167	2127	4208	6335	SO:0001583	missense	25763	exon1			ACAGCGCTGAGAG																												ENST00000341016.3:c.293C>T	X.37:g.37850385C>T	ENSP00000339511:p.Ala98Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	209	105	0.502392	NM_012274	A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	CCDS43929.1	10	0.006027727546714889	5	0.010245901639344262	2	0.005555555555555556	0	0.0	0	0.0	C	4.372	0.068603	0.08436	0.031496	0.0	ENSG00000187516	ENST00000341016	T	0.39787	1.06	3.24	-6.47	0.01902	Histone-fold (1);	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13202	-1.0518	9	0.25751	T	0.34	.	1.5554	0.02583	0.1509:0.3307:0.3038:0.2146	rs61737321	98	O75409	HYPM_HUMAN	V	98	ENSP00000339511:A98V	ENSP00000339511:A98V	A	+	2	0	CXorf27	37735329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.422000	0.02453	-1.678000	0.01454	-0.505000	0.04504	GCT	C|0.994;T|0.006	0.006	strong		0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			T	37850385	C	T	37850385	3	4	22	1	0	0	0	0	1	0	0	0	4105	797	28	2	295	2	CXorf27	23	37850385	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	149337	37850385	117420175	11125	16233										
SYTL5	94122	hgsc.bcm.edu	37	chrX	37967868	37967868	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatagttatgtcaagtcataTcttcttcctgacaagtcccg	6	10	4	1	rs5918476	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:37967868T>C	ENST00000357972.5	+	12	1896	c.1350T>C	c.(1348-1350)taT>taC	p.Y450Y	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.Y472Y|SYTL5_ENST00000297875.2_Silent_p.Y450Y			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	450	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCAAGTCATATCTTCTTCCTG	0.343													C|||	1611	0.426755	0.6475	0.2983	3775	,	,		13487	0.0615		0.1938	False		,,,				2504	0.2975				p.Y472Y		Atlas-SNP	.											.	SYTL5	72	.	0			c.T1416C						PASS	.	C	,,	2927,906		959,574,435,98,136	72	58	63		1416,1350,1350	2.2	1	X	dbSNP_114	63	1673,5053		148,905,472,1375,1398	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	,,	1107,1479,907,1473,1534	CC,CT,C,TT,T		24.8736,23.6368,43.5647	,,	472/753,450/731,450/731	37967868	4600,5959	2202	4298	6500	SO:0001819	synonymous_variant	94122	exon12			GTCATATCTTCTT		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1350T>C	X.37:g.37967868T>C		Somatic	384	0	0		WXS	Illumina HiSeq	Phase_I	349	172	0.492837	NM_001163334	A2RRF2	Silent	SNP	ENST00000357972.5	37	CCDS14244.1																																																																																			T|0.570;C|0.430	0.430	strong		0.343	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		C	37967868	T	C	37967868	2	2	22	1	0	0	0	0	0	0	0	1	15483	1442	50	2		2	SYTL5	23	37967868	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	117483	37967868	117302692	11126	16234										
SRPX	8406	hgsc.bcm.edu	37	chrX	38033415	38033415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagagctggcctactcacgtTtgcagatgaccttgtcagac	10	12	2	4	rs35474361	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38033415T>C	ENST00000378533.3	-	3	453	c.347A>G	c.(346-348)aAa>aGa	p.K116R	SRPX_ENST00000544439.1_Missense_Mutation_p.K96R|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.K116R|SRPX_ENST00000432886.2_Missense_Mutation_p.K116R|SRPX_ENST00000343800.6_Missense_Mutation_p.K103R	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	116	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTACTCACGTTTGCAGATGAC	0.493													T|||	274	0.0725828	0.1952	0.0231	3775	,	,		15221	0.0		0.0	False		,,,				2504	0.0				p.K116R		Atlas-SNP	.											.	SRPX	53	.	0			c.A347G						PASS	.	T	ARG/LYS,ARG/LYS,ARG/LYS,ARG/LYS	901,2932		90,578,143,963,428	127	98	108		287,347,347,347	5.7	1	X	dbSNP_126	108	6,6722		0,5,1,2423,1871	yes	missense,missense,missense,missense	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	26,26,26,26	90,583,144,3386,2299	CC,CT,C,TT,T		0.0892,23.5064,8.5882	benign,benign,benign,benign	96/445,116/406,116/380,116/465	38033415	907,9654	2202	4300	6502	SO:0001583	missense	8406	exon3			TCACGTTTGCAGA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.347A>G	X.37:g.38033415T>C	ENSP00000367794:p.Lys116Arg	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_001170751	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	CCDS14245.1	83	0.050030138637733576	51	0.11486486486486487	7	0.019444444444444445	0	0.0	0	0.0	T	1.424	-0.572093	0.03882	0.235064	8.92E-4	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.73897	1.88;-0.79;1.88;1.88;1.87	5.7	5.7	0.88788	Complement control module (1);Sushi/SCR/CCP (1);	0.137867	0.64402	D	0.000003	T	0.00039	0.0001	N	0.13043	0.29	0.24140	P	0.99573811	B;B;B;B	0.24618	0.007;0.107;0.058;0.071	B;B;B;B	0.27262	0.043;0.078;0.022;0.038	T	0.04281	-1.0963	9	0.07644	T	0.81	-13.8523	14.935	0.70948	0.0:0.0:0.0:1.0	rs35474361	116;116;96;116	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	R	96;116;116;116;103	ENSP00000440758:K96R;ENSP00000411165:K116R;ENSP00000445034:K116R;ENSP00000367794:K116R;ENSP00000339211:K103R	ENSP00000339211:K103R	K	-	2	0	SRPX	37918359	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.342000	0.52159	1.909000	0.55274	0.486000	0.48141	AAA	T|0.921;C|0.079	0.079	strong		0.493	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		C	38033415	T	C	38033415	3	2	22	1	0	0	0	0	1	0	0	0	15163	1841	64	2	1079	2	SRPX	23	38033415	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65547	38033415	117237145	11127	16235										
RPGR	6103	hgsc.bcm.edu	37	chrX	38144856	38144856	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttttggaacctgatggcccGttttttaaaagtcgttttga	9	6	0	2	rs12687163	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38144856G>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000378505.2_Silent_p.N1132N|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGATGGCCCGTTTTTTAAAA	0.378													G|||	986	0.261192	0.0787	0.1556	3775	,	,		12241	0.4573		0.0626	False		,,,				2504	0.2556				p.N1132N		Atlas-SNP	.											.	RPGR	175	.	0			c.C3396T						PASS	.		,	402,3431		17,292,76,1322,495	201	183	190		,3396	-0.1	0	X	dbSNP_120	190	583,6145		16,400,151,2012,1721	no	intron,coding-synonymous	RPGR	NM_000328.2,NM_001034853.1	,	33,692,227,3334,2216	AA,AG,A,GG,G		8.6653,10.4879,9.3268	,	,1132/1153	38144856	985,9576	2202	4300	6502	SO:0001627	intron_variant	6103	exon15			TGGCCCGTTTTTT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1490C>T	X.37:g.38144856G>A		Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	194	88	0.453608	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																				G|0.844;A|0.156	0.156	strong		0.378	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		A	38144856	G	A	38144856	1	1	22	0	1	0	0	0	0	0	0	0	13548	1136	40	1		1	RPGR	23	38144856	Intron	SNP	G	TCGA-G8-6324-01A-11D-2210-10	111441	38144856	117125704	11128	16236										
RPGR	6103	hgsc.bcm.edu	37	chrX	38145199	38145201	+	Intron	DEL	TCC	TCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctccccttccacttcccctTcctcttcttcctccccttct					rs200955614		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145199_38145201delTCC	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.1017_1018EE>E|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cacttccccttcctcttcttcct	0.581														38	0.0100662	0.0265	0.0043	3775	,	,		8305	0.0		0.0	False		,,,				2504	0.0				p.1018_1018del		Pindel	.											.	RPGR	175	.	0			c.3052_3054del	GRCh37	CD004123	orf15	D		PASS	.		,	173,3490		4,136,29,1439,476					,	-0.5	0			35	175,6221		2,108,63,2240,1633	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	6,244,92,3679,2109	A1A1,A1R,A1,RR,R		2.7361,4.7229,3.4596	,	,		348,9711				SO:0001627	intron_variant	6103	exon15			.	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1145GGA>-	X.37:g.38145199_38145201delTCC		Somatic	29	.	.		WXS	Illumina HiSeq	Phase_I	55	10	0.182	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	ENST00000339363.3	37																																																																																				TCC|0.992;-|0.008	0.008	strong		0.581	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145201	TCC	-	38145199	6	5	22	0	1	1	0	1	0	0	0	0	13548	1783	62	0		0	RPGR	23	38145199	Intron	DEL	TCC	TCGA-G8-6324-01A-11D-2210-10	343	38145199	117125361	11129	16237										
RPGR	6103	hgsc.bcm.edu	37	chrX	38145694	38145717	+	Intron	DEL	TCCTCCTCTTCCCCCTCCCCTTCC	TCCTCCTCTTCCCCCTCCCCTTCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcccctttcccttctcctTcctcctcttccccctcccct							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCCTCCTCTTCCCCCTCCCCTTCC	TCCTCCTCTTCCCCCTCCCCTTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145694_38145717delTCCTCCTCTTCCCCCTCCCCTTCC	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.845_853EEGEGEEEE>E|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttctccttcctcctcttccccctccccttcctcctcttccc	0.607																																					p.846_853del		Pindel	.											.	RPGR	175	.	0			c.2536_2559del	GRCh37	CD022920|CD077431|CI033306|CM004110|CM066945	orf15	D|I|M		PASS	.																																			SO:0001627	intron_variant	6103	exon15			.	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+629GGAAGGGGAGGGGGAAGAGGAGGA>-	X.37:g.38145694_38145717delTCCTCCTCTTCCCCCTCCCCTTCC		Somatic	100	.	.		WXS	Illumina HiSeq	Phase_I	120	24	0.2	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	ENST00000339363.3	37																																																																																				.	.	none		0.607	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145717	TCCTCCTCTTCCCCCTCCCCTTCC	-	38145694	6	5	22	0	1	1	0	1	0	0	0	0	13548	1783	62	0		0	RPGR	23	38145694	Intron	DEL	TCCTCCTCTTCCCCCTCCCCTTCC	TCGA-G8-6324-01A-11D-2210-10	495	38145694	117124866	11130	16238										
RPGR	6103	hgsc.bcm.edu	37	chrX	38145715	38145715	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctcttccccctcccctTcctcctcttccccctcccct	0	28	2	0			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145715T>C	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E846G|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccctccccttcctcctcttc	0.602																																					p.E846G		Atlas-SNP	.											.	RPGR	175	.	0			c.A2537G						PASS	.						39	26	31					X																	38145715		1741	3341	5082	SO:0001627	intron_variant	6103	exon15			TCCCCTTCCTCCT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+631A>G	X.37:g.38145715T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	115	8	0.0695652	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	t	5.065	0.197625	0.09652	.	.	ENSG00000156313	ENST00000378505	T	0.02525	4.26	1.54	1.54	0.23209	.	1.854680	0.04946	U	0.459387	T	0.04137	0.0115	L	0.50333	1.59	0.45676	D	0.998598	B	0.13594	0.008	B	0.06405	0.002	T	0.32745	-0.9895	10	0.66056	D	0.02	.	4.6898	0.12776	0.0:0.1904:0.0:0.8096	.	846	E9PE28	.	G	846	ENSP00000367766:E846G	ENSP00000367766:E846G	E	-	2	0	RPGR	38030659	0.004000	0.15560	0.004000	0.12327	0.000000	0.00434	0.336000	0.19823	0.671000	0.31185	0.000000	0.15137	GAA	.	.	none		0.602	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		C	38145715	T	C	38145715	1	2	22	0	1	0	0	0	0	0	0	0	13548	1783	62	2		2	RPGR	23	38145715	Intron	SNP	T	TCGA-G8-6324-01A-11D-2210-10	21	38145715	117124845	11131	16239										
RPGR	6103	hgsc.bcm.edu	37	chrX	38145841	38145841	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctctttttcctcccctCtcccctctgtttcctcctct	1	22	4	0	rs147388235	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145841C>T	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.R804K|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ttcctcccctctcccctctgt	0.572													C|||	38	0.0100662	0.0265	0.0043	3775	,	,		7854	0.0		0.0	False		,,,				2504	0.0				p.R804K		Atlas-SNP	.											.	RPGR	175	.	0			c.G2411A						PASS	.		,LYS/ARG	114,3133		2,98,12,1355,325	209	149	170		,2411	-0.9	0	X	dbSNP_134	170	3,5559		0,0,3,2116,1327	yes	intron,missense	RPGR	NM_000328.2,NM_001034853.1	,26	2,98,15,3471,1652	TT,TC,T,CC,C		0.0539,3.5109,1.3282	,benign	,804/1153	38145841	117,8692	1792	3446	5238	SO:0001627	intron_variant	6103	exon15			TCCCCTCTCCCCT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+505G>A	X.37:g.38145841C>T		Somatic	469	1	0.0021322		WXS	Illumina HiSeq	Phase_I	522	236	0.452107	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		13	0.007836045810729355	9	0.018367346938775512	3	0.008287292817679558	0	0.0	0	0.0	c	5.090	0.202211	0.09652	0.035109	5.39E-4	ENSG00000156313	ENST00000378505	T	0.02301	4.35	2.0	-0.924	0.10462	.	0.274603	0.23272	U	0.050002	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46400	-0.9194	10	0.31617	T	0.26	.	4.6346	0.12518	0.0:0.4094:0.1765:0.4141	.	804	E9PE28	.	K	804	ENSP00000367766:R804K	ENSP00000367766:R804K	R	-	2	0	RPGR	38030785	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.188000	0.17018	-0.612000	0.05701	-0.921000	0.02739	AGA	C|0.985;T|0.015	0.015	strong		0.572	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38145841	C	T	38145841	1	4	22	0	1	0	0	0	0	0	0	0	13548	913	32	2		2	RPGR	23	38145841	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	126	38145841	117124719	11132	16240										
RPGR	6103	hgsc.bcm.edu	37	chrX	38145916	38145918	+	Intron	DEL	TCC	TCC	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcctccttccccgctcttTcctcctttttcctctctcct					rs201730068		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145916_38145918delTCC	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.778_779EE>E|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccgctctttcctcctttttcc	0.542														37	0.00980132	0.0257	0.0043	3775	,	,		10718	0.0		0.0	False		,,,				2504	0.0				p.779_779del		Pindel,Atlas-Indel	.											.	RPGR	175	.	0			c.2335_2337del						PASS	.		,	118,3082		5,95,13,1328,331					,	-2	0			235	8,5495		2,0,4,2080,1335	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	7,95,17,3408,1666	A1A1,A1R,A1,RR,R		0.1454,3.6875,1.4478	,	,		126,8577				SO:0001627	intron_variant	6103	exon15			.	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+428GGA>-	X.37:g.38145919_38145921delTCC		Somatic	462	.	.		WXS	Illumina HiSeq	Phase_I	486	107	0.22	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	ENST00000339363.3	37																																																																																				TCC|0.991;-|0.009	0.009	strong		0.542	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145918	TCC	-	38145916	6	5	22	0	1	1	0	1	0	0	0	0	13548	1783	62	0		0	RPGR	23	38145916	Intron	DEL	TCC	TCGA-G8-6324-01A-11D-2210-10	75	38145916	117124644	11133	16241	350	2								
RPGR	6103	hgsc.bcm.edu	37	chrX	38145918	38145918	+	Intron	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctccttccccgctctttcCtcctttttcctctctccttc					rs201730068		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38145918C>T	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000378505.2_Silent_p.E778E|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccgctctttcctcctttttcc	0.537																																					p.E778E		Atlas-SNP	.											.	RPGR	175	.	0			c.G2334A						PASS	.						315	191	233					X																	38145918		1858	3627	5485	SO:0001627	intron_variant	6103	exon15			TCTTTCCTCCTTT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+428G>A	X.37:g.38145918C>T		Somatic	459	0	0		WXS	Illumina HiSeq	Phase_I	294	15	0.0510204	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																				.	.	none		0.537	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38145918	C	T	38145918	1	4	22	0	1	0	0	0	0	0	0	0	13548	680	24	2		2	RPGR	23	38145918	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2	38145918	117124642	11134	16242	350	2								
RPGR	6103	hgsc.bcm.edu	37	chrX	38146029	38146029	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctcttctctgtctccctcCtcttcttctccttctccatg	2	19	7	0	rs147619484	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38146029C>T	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Silent_p.E741E|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tgtctccctcctcttcttctc	0.532													C|||	488	0.129272	0.1271	0.1427	3775	,	,		12242	0.0516		0.0527	False		,,,				2504	0.1186				p.E741E		Atlas-SNP	.											.	RPGR	175	.	0			c.G2223A						PASS	.		,	516,3144		35,379,67,1174,417	190	112	138		,2223	-2.1	0	X	dbSNP_134	138	301,6182		2,202,95,2179,1622	no	intron,coding-synonymous	RPGR	NM_000328.2,NM_001034853.1	,	37,581,162,3353,2039	TT,TC,T,CC,C		4.6429,14.0984,8.0548	,	,741/1153	38146029	817,9326	2072	4100	6172	SO:0001627	intron_variant	6103	exon15			TCCCTCCTCTTCT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+317G>A	X.37:g.38146029C>T		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	253	120	0.474308	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																				C|0.900;T|0.100	0.100	strong		0.532	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38146029	C	T	38146029	1	4	22	0	1	0	0	0	0	0	0	0	13548	680	24	2		2	RPGR	23	38146029	Intron	SNP	C	TCGA-G8-6324-01A-11D-2210-10	111	38146029	117124531	11135	16243										
RPGR	6103	hgsc.bcm.edu	37	chrX	38147170	38147170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggctgcgtcatgaaaatcCcttgtgacacatgttgttta	9	9	1	2	rs1801688	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38147170C>T	ENST00000339363.3	-	14	1864	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.G566E|RPGR_ENST00000378505.2_Missense_Mutation_p.G566E|RPGR_ENST00000318842.7_Missense_Mutation_p.G566E|RPGR_ENST00000309513.3_Missense_Mutation_p.G504E|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	566	Glu-rich.		G -> E (in dbSNP:rs1801688). {ECO:0000269|PubMed:10480356, ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:10980543, ECO:0000269|PubMed:9399904}.		cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CATGAAAATCCCTTGTGACAC	0.438													C|||	489	0.129536	0.1278	0.1427	3775	,	,		15353	0.0516		0.0527	False		,,,				2504	0.1186				p.G566E		Atlas-SNP	.											.	RPGR	175	.	0			c.G1697A						PASS	.	C	GLU/GLY,GLU/GLY	614,3219		49,433,83,1149,488	320	228	259	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1697,1697	0.8	0	X	dbSNP_89	259	342,6386		4,229,105,2195,1767	yes	missense,missense	RPGR	NM_000328.2,NM_001034853.1	98,98	53,662,188,3344,2255	TT,TC,T,CC,C		5.0832,16.0188,9.0522	probably-damaging,probably-damaging	566/816,566/1153	38147170	956,9605	2202	4300	6502	SO:0001583	missense	6103	exon14			AAAATCCCTTGTG	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1697G>A	X.37:g.38147170C>T	ENSP00000343671:p.Gly566Glu	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	269	140	0.520446	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		174	0.10488245931283906	34	0.0752212389380531	37	0.10818713450292397	23	0.04107142857142857	31	0.04234972677595628	C	9.487	1.099677	0.20552	0.160188	0.050832	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.34072	2.4;2.67;2.67;1.46;1.38	5.25	0.8	0.18672	.	0.515186	0.19446	U	0.114080	T	0.00178	0.0005	L	0.32530	0.975	0.42524	P	0.006985000000000019	P;D	0.89917	0.911;1.0	B;D	0.79784	0.311;0.993	T	0.06127	-1.0844	9	0.33940	T	0.23	.	3.3108	0.07016	0.0:0.3733:0.2062:0.4204	rs1801688;rs1801688	566;566	E9PE28;Q92834-2	.;.	E	566;504;566;566;566	ENSP00000343671:G566E;ENSP00000308783:G504E;ENSP00000322219:G566E;ENSP00000339531:G566E;ENSP00000367766:G566E	ENSP00000308783:G504E	G	-	2	0	RPGR	38032114	0.011000	0.17503	0.003000	0.11579	0.001000	0.01503	0.224000	0.17738	0.100000	0.17581	-1.187000	0.01702	GGG	0|0.003;T|0.102	0.102	strong		0.438	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38147170	C	T	38147170	3	4	22	1	0	0	0	0	1	0	0	0	13548	623	22	2	2328	2	RPGR	23	38147170	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1141	38147170	117123390	11136	16244										
RPGR	6103	hgsc.bcm.edu	37	chrX	38156677	38156677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattggaggtagtgttctcCtcattgaaaaagaatctgga	10	6	3	2	rs1801687|rs281865303	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38156677C>T	ENST00000339363.3	-	11	1441	c.1274G>A	c.(1273-1275)aGg>aAg	p.R425K	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.R425K|RPGR_ENST00000378505.2_Missense_Mutation_p.R425K|RPGR_ENST00000318842.7_Missense_Mutation_p.R425K|RPGR_ENST00000309513.3_Missense_Mutation_p.R363K|RPGR_ENST00000338898.3_Missense_Mutation_p.R425K			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	425			R -> K (in dbSNP:rs1801687). {ECO:0000269|PubMed:10480356, ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:10980543, ECO:0000269|PubMed:9399904}.		cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TAGTGTTCTCCTCATTGAAAA	0.358													T|||	488	0.129272	0.1271	0.1427	3775	,	,		12964	0.0516		0.0527	False		,,,				2504	0.1186				p.R425K		Atlas-SNP	.											.	RPGR	175	.	0			c.G1274A						PASS	.	T	LYS/ARG,LYS/ARG	591,3242		48,412,83,1171,488	61	53	56	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1274,1274	-5.9	0	X	dbSNP_89	56	344,6384		4,229,107,2195,1765	yes	missense,missense	RPGR	NM_000328.2,NM_001034853.1	26,26	52,641,190,3366,2253	TT,TC,T,CC,C		5.113,15.4187,8.8533	benign,benign	425/816,425/1153	38156677	935,9626	2202	4300	6502	SO:0001583	missense	6103	exon11			GTTCTCCTCATTG	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1274G>A	X.37:g.38156677C>T	ENSP00000343671:p.Arg425Lys	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	194	92	0.474227	NM_001034853	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		174	0.10488245931283906	34	0.0752212389380531	37	0.10818713450292397	23	0.04107142857142857	31	0.04234972677595628	T	0.356	-0.942055	0.02322	0.154187	0.05113	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.47869	1.39;1.07;0.83;1.41;1.41;1.4	4.75	-5.87	0.02297	.	0.925114	0.09080	N	0.851441	T	0.00109	0.0003	N	0.08118	0	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.10660	-1.0620	9	0.41790	T	0.15	.	3.8908	0.09117	0.1485:0.118:0.4934:0.24	rs1801687;rs52835401	425;425	E9PE28;Q92834-2	.;.	K	425;363;425;425;425;425	ENSP00000343671:R425K;ENSP00000308783:R363K;ENSP00000340208:R425K;ENSP00000322219:R425K;ENSP00000339531:R425K;ENSP00000367766:R425K	ENSP00000308783:R363K	R	-	2	0	RPGR	38041621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-1.884000	0.01119	-4.401000	0.00006	AGG	C|0.904;T|0.096	0.096	strong		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38156677	C	T	38156677	3	4	22	1	0	0	0	0	1	0	0	0	13548	681	24	2	2763	2	RPGR	23	38156677	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	9507	38156677	117113883	11137	16245										
OTC	5009	hgsc.bcm.edu	37	chrX	38226603	38226603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtgaccttctcactctaaAaaactttaccggagaagaaa	6	11	2	3	rs1800321	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38226603A>G	ENST00000039007.4	+	2	289	c.137A>G	c.(136-138)aAa>aGa	p.K46R	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	46			K -> R (in dbSNP:rs1800321). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2474822}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTCACTCTAAAAAACTTTACC	0.343													A|||	695	0.184106	0.2912	0.1167	3775	,	,		12634	0.002		0.2048	False		,,,				2504	0.0215				p.K46R		Atlas-SNP	.											.	OTC	60	.	0			c.A137G						PASS	.	A	ARG/LYS	1443,2390		252,726,213,653,358	46	46	46	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	137	4.2	0.9	X	dbSNP_89	46	1623,5104		155,862,451,1411,1420	yes	missense	OTC	NM_000531.5	26	407,1588,664,2064,1778	GG,GA,G,AA,A		24.1267,37.6468,29.0341	benign	46/355	38226603	3066,7494	2202	4299	6501	SO:0001583	missense	5009	exon2			CTCTAAAAAACTT	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.137A>G	X.37:g.38226603A>G	ENSP00000039007:p.Lys46Arg	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	254	135	0.531496	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	327	0.19710669077757687	82	0.20603015075376885	39	0.11337209302325581	1	0.0017482517482517483	101	0.15256797583081572	A	11.07	1.530492	0.27387	0.376468	0.241267	ENSG00000036473	ENST00000039007	D	0.98493	-4.96	5.39	4.23	0.50019	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.207551	0.49305	N	0.000150	T	0.00012	0.0000	L	0.46614	1.455	0.27994	P	0.9355521	B	0.27679	0.185	B	0.29942	0.109	T	0.00361	-1.1789	9	0.21540	T	0.41	-29.6416	9.3789	0.38301	0.9133:0.0:0.0867:0.0	rs1800321;rs60302012;rs1800321	46	P00480	OTC_HUMAN	R	46	ENSP00000039007:K46R	ENSP00000039007:K46R	K	+	2	0	OTC	38111547	1.000000	0.71417	0.909000	0.35828	0.665000	0.39181	7.119000	0.77145	0.700000	0.31782	0.345000	0.21793	AAA	A|0.721;0|0.027	.	strong		0.343	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			G	38226603	A	G	38226603	3	3	22	1	0	0	0	0	1	0	0	0	11301	14	1	2	143	2	OTC	23	38226603	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	69926	38226603	117043957	11138	16246										
OTC	5009	hgsc.bcm.edu	37	chrX	38260570	38260570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcagtattggctcgagtgtaTaaacaatcagatttggacac	10	7	1	1	rs145777402	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:38260570T>C	ENST00000039007.4	+	5	581	c.429T>C	c.(427-429)taT>taC	p.Y143Y	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	143					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTCGAGTGTATAAACAATCAG	0.393													T|||	12	0.00317881	0.0091	0.0	3775	,	,		10235	0.0		0.0	False		,,,				2504	0.0				p.Y143Y		Atlas-SNP	.											.	OTC	60	.	0			c.T429C						PASS	.	T		45,3788		0,40,5,1591,566	103	78	86		429	-0.4	1	X	dbSNP_134	86	0,6728		0,0,0,2428,1872	no	coding-synonymous	OTC	NM_000531.5		0,40,5,4019,2438	CC,CT,C,TT,T		0.0,1.174,0.4261		143/355	38260570	45,10516	2202	4300	6502	SO:0001819	synonymous_variant	5009	exon5			AGTGTATAAACAA	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.429T>C	X.37:g.38260570T>C		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	179	74	0.413408	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Silent	SNP	ENST00000039007.4	37	CCDS14247.1																																																																																			T|0.994;C|0.006	0.006	strong		0.393	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			C	38260570	T	C	38260570	2	2	22	1	0	0	0	0	0	0	0	1	11301	1413	49	2		2	OTC	23	38260570	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	33967	38260570	117009990	11139	16247										
BCOR	54880	hgsc.bcm.edu	37	chrX	39932907	39932907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgcggaggctgggcggccTgcactcgacactgaccctga	15	13	0	2	rs6520618	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:39932907T>C	ENST00000378444.4	-	4	1920	c.1692A>G	c.(1690-1692)gcA>gcG	p.A564A	BCOR_ENST00000378455.4_Silent_p.A564A|BCOR_ENST00000397354.3_Silent_p.A564A|BCOR_ENST00000342274.4_Silent_p.A564A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	564					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGGCGGCCTGCACTCGACA	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						t|||	1978	0.523974	0.6884	0.1657	3775	,	,		13235	0.5258		0.0765	False		,,,				2504	0.3538				p.A564A		Atlas-SNP	.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	.	0			c.A1692G						PASS	.	C	,,,	3052,781		1053,500,446,78,125	81	64	70		1692,1692,1692,1692	-11.2	0	X	dbSNP_116	70	766,5962		38,467,223,1923,1649	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	,,,	1091,967,669,2001,1774	CC,CT,C,TT,T		11.3853,20.3757,36.1519	,,,	564/1722,564/1704,564/1756,564/1722	39932907	3818,6743	2202	4300	6502	SO:0001819	synonymous_variant	54880	exon4			GCGGCCTGCACTC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1692A>G	X.37:g.39932907T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																			0|0.003;C|0.438	0.438	strong		0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		C	39932907	T	C	39932907	2	2	22	1	0	0	0	0	0	0	0	1	1386	1567	55	3		3	BCOR	23	39932907	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1672337	39932907	115337653	11140	16248										
ATP6AP2	10159	hgsc.bcm.edu	37	chrX	40460040	40460040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgacatgtacagtctttaTggtgggaatgcagtggtaga	14	4	1	2	rs7691	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:40460040T>C	ENST00000378438.4	+	8	923	c.765T>C	c.(763-765)taT>taC	p.Y255Y	ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Silent_p.Y223Y|ATP6AP2_ENST00000535777.1_Silent_p.Y177Y|ATP6AP2_ENST00000544975.1_Silent_p.Y179Y	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	255					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						ACAGTCTTTATGGTGGGAATG	0.353													T|||	583	0.154437	0.2526	0.1859	3775	,	,		12735	0.1091		0.001	False		,,,				2504	0.0092				p.Y255Y		Atlas-SNP	.											.	ATP6AP2	45	.	0			c.T765C						PASS	.	T		1149,2686		144,692,169,796,402	120	94	102		765	1.5	1	X	dbSNP_52	102	42,6686		0,28,14,2400,1858	no	coding-synonymous	ATP6AP2	NM_005765.2		144,720,183,3196,2260	CC,CT,C,TT,T		0.6243,29.9609,11.2752		255/351	40460040	1191,9372	2203	4300	6503	SO:0001819	synonymous_variant	10159	exon8			TCTTTATGGTGGG	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.765T>C	X.37:g.40460040T>C		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	227	226	0.995595	NM_005765	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Silent	SNP	ENST00000378438.4	37	CCDS14252.1	247|247	0.14888487040385776|0.14888487040385776	78|78	0.1902439024390244|0.1902439024390244	46|46	0.1393939393939394|0.1393939393939394	46|46	0.08614232209737828|0.08614232209737828	1|1	0.0013192612137203166|0.0013192612137203166	T|T	8.602|8.602	0.887101|0.887101	0.17540|0.17540	0.299609|0.299609	0.006243|0.006243	ENSG00000182220|ENSG00000182220	ENST00000447485|ENST00000423649	.|.	.|.	.|.	5.23|5.23	1.55|1.55	0.23275|0.23275	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24368|0.24368	-1.0162|-1.0162	3|3	.|.	.|.	.|.	-44.4115|-44.4115	9.1043|9.1043	0.36687|0.36687	0.0:0.3009:0.0:0.6991|0.0:0.3009:0.0:0.6991	rs7691;rs1059871;rs3200729;rs5963811;rs6520665;rs57415406;rs7691|rs7691;rs1059871;rs3200729;rs5963811;rs6520665;rs57415406;rs7691	.|.	.|.	.|.	T|R	230|196	.|.	.|.	M|W	+|+	2|1	0|0	ATP6AP2|ATP6AP2	40344984|40344984	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.979000|0.979000	0.70002|0.70002	0.578000|0.578000	0.23773|0.23773	0.180000|0.180000	0.19960|0.19960	0.417000|0.417000	0.27973|0.27973	ATG|TGG	0|0.015;C|0.145	0.145	strong		0.353	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		C	40460040	T	C	40460040	2	2	22	1	0	0	0	0	0	0	0	1	1167	1471	51	2		2	ATP6AP2	23	40460040	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	527133	40460040	114810520	11141	16249										
ATP6AP2	10159	hgsc.bcm.edu	37	chrX	40464822	40464822	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatattgtagaagaacccaGcaagtccctataaccttgca	6	11	0	2	rs35798522	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:40464822G>C	ENST00000378438.4	+	9	1026	c.868G>C	c.(868-870)Gca>Cca	p.A290P	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.A258P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.A212P|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.A214P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	290			A -> P (in dbSNP:rs35798522).		angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						GAAGAACCCAGCAAGTCCCTA	0.343													G|||	83	0.0219868	0.0613	0.0029	3775	,	,		13663	0.0		0.0	False		,,,				2504	0.0				p.A290P		Atlas-SNP	.											.	ATP6AP2	45	.	0			c.G868C						PASS	.	G	PRO/ALA	239,3596		5,190,39,1437,532	61	57	58		868	-8.4	0	X	dbSNP_126	58	0,6726		0,0,0,2427,1872	yes	missense	ATP6AP2	NM_005765.2	27	5,190,39,3864,2404	CC,CG,C,GG,G		0.0,6.2321,2.263	benign	290/351	40464822	239,10322	2203	4299	6502	SO:0001583	missense	10159	exon9			AACCCAGCAAGTC	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.868G>C	X.37:g.40464822G>C	ENSP00000367697:p.Ala290Pro	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	34	19	0.558824	NM_005765	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	CCDS14252.1	29|29	0.017480409885473176|0.017480409885473176	19|19	0.04025423728813559|0.04025423728813559	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.15|14.15	2.450072|2.450072	0.43531|0.43531	0.062321|0.062321	0.0|0.0	ENSG00000182220|ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777|ENST00000423649	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.65|5.65	-8.41|-8.41	0.00961|0.00961	.|.	1.054090|.	0.07412|.	N|.	0.892481|.	T|T	0.00845|0.00845	0.0028|0.0028	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B|.	0.29531|.	0.0;0.0;0.0;0.247|.	B;B;B;B|.	0.32289|.	0.0;0.002;0.0;0.143|.	T|T	0.15263|0.15263	-1.0443|-1.0443	9|4	0.28530|.	T|.	0.3|.	-34.4303|-34.4303	1.913|1.913	0.03291|0.03291	0.1093:0.2223:0.4974:0.171|0.1093:0.2223:0.4974:0.171	rs35798522|rs35798522	212;258;214;290|.	B7Z1I9;B7Z9I3;B7Z413;O75787|.	.;.;.;RENR_HUMAN|.	P|T	258;290;214;212|230	ENSP00000438415:A258P;ENSP00000367697:A290P;ENSP00000440459:A214P;ENSP00000441536:A212P|.	ENSP00000367697:A290P|.	A|S	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40349766|40349766	0.019000|0.019000	0.18553|0.18553	0.000000|0.000000	0.03702|0.03702	0.689000|0.689000	0.40095|0.40095	1.088000|1.088000	0.30877|0.30877	-3.069000|-3.069000	0.00254|0.00254	0.600000|0.600000	0.82982|0.82982	GCA|AGC	G|0.977;C|0.023	0.023	strong		0.343	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		C	40464822	G	C	40464822	3	2	22	1	0	0	0	0	1	0	0	0	1167	971	34	4	902	4	ATP6AP2	23	40464822	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	4782	40464822	114805738	11142	16250										
CXorf38	159013	hgsc.bcm.edu	37	chrX	40496354	40496354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgaaaatctcgaagccacgTagaagatactttcatctctg	7	10	3	3	rs17145855	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:40496354T>C	ENST00000327877.5	-	4	552	c.526A>G	c.(526-528)Acg>Gcg	p.T176A	CXorf38_ENST00000378421.1_Missense_Mutation_p.T57A|CXorf38_ENST00000378426.1_Missense_Mutation_p.T57A|CXorf38_ENST00000440784.2_Missense_Mutation_p.T91A	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	176			T -> A (in dbSNP:rs17145855).							NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CGAAGCCACGTAGAAGATACT	0.358													T|||	57	0.0150993	0.0424	0.0014	3775	,	,		14154	0.0		0.0	False		,,,				2504	0.0				p.T176A		Atlas-SNP	.											.	CXorf38	29	.	0			c.A526G						PASS	.	T	ALA/THR	179,3656		2,151,24,1479,547	56	51	53		526	-7.7	0	X	dbSNP_123	53	0,6728		0,0,0,2428,1872	yes	missense	CXorf38	NM_144970.2	58	2,151,24,3907,2419	CC,CT,C,TT,T		0.0,4.6675,1.6946	benign	176/320	40496354	179,10384	2203	4300	6503	SO:0001583	missense	159013	exon4			GCCACGTAGAAGA	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.526A>G	X.37:g.40496354T>C	ENSP00000330488:p.Thr176Ala	Somatic	319	0	0		WXS	Illumina HiSeq	Phase_I	323	155	0.479876	NM_144970	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	16	0.009644364074743821	9	0.01882845188284519	0	0.0	0	0.0	0	0.0	T	0.117	-1.130194	0.01756	0.046675	0.0	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.95	-7.7	0.01259	.	1.658950	0.02974	N	0.144773	T	0.02610	0.0079	N	0.14661	0.345	0.34371	P	0.30793899999999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10776	-1.0615	9	0.08837	T	0.75	0.4805	2.9505	0.05860	0.1431:0.3119:0.0909:0.4542	rs17145855;rs52818878;rs17145855	91;176	E7EN46;Q8TB03	.;CX038_HUMAN	A	57;176;57;91	ENSP00000367683:T57A;ENSP00000330488:T176A;ENSP00000367677:T57A;ENSP00000400019:T91A	ENSP00000330488:T176A	T	-	1	0	CXorf38	40381298	0.000000	0.05858	0.003000	0.11579	0.414000	0.31173	-1.312000	0.02720	-1.183000	0.02723	-0.537000	0.04273	ACG	0|0.003;C|0.018	0.018	strong		0.358	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		C	40496354	T	C	40496354	3	2	22	1	0	0	0	0	1	0	0	0	4107	1638	57	2	445	2	CXorf38	23	40496354	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	31532	40496354	114774206	11143	16251										
MED14	9282	hgsc.bcm.edu	37	chrX	40551993	40551993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttggttctggtctgtttcccGgtttttgtacgaaaaaccaa	9	8	2	0	rs10127014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:40551993G>A	ENST00000324817.1	-	14	1930	c.1812C>T	c.(1810-1812)acC>acT	p.T604T		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	604	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|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)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGTTTCCCGGTTTTTGTAC	0.433													G|||	105	0.0278146	0.0719	0.0029	3775	,	,		13717	0.0		0.0	False		,,,				2504	0.0082				p.T604T		Atlas-SNP	.											.	MED14	108	.	0			c.C1812T						PASS	.	G		275,3560		4,230,37,1398,534	137	113	121		1812	-9.3	0	X	dbSNP_119	121	0,6728		0,0,0,2428,1872	no	coding-synonymous	MED14	NM_004229.3		4,230,37,3826,2406	AA,AG,A,GG,G		0.0,7.1708,2.6034		604/1455	40551993	275,10288	2203	4300	6503	SO:0001819	synonymous_variant	9282	exon14			TTTCCCGGTTTTT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1812C>T	X.37:g.40551993G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	236	128	0.542373	NM_004229	Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	CCDS14254.1																																																																																			G|0.966;A|0.034	0.034	strong		0.433	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		A	40551993	G	A	40551993	2	1	22	1	0	0	0	0	0	0	0	1	9432	1103	39	1		1	MED14	23	40551993	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	55639	40551993	114718567	11144	16252										
MED14	9282	hgsc.bcm.edu	37	chrX	40573157	40573157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggtctggaggaataattttGtcctgcaaaaaaatttaagt	10	4	1	0	rs6520683	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:40573157G>A	ENST00000324817.1	-	5	643	c.525C>T	c.(523-525)gaC>gaT	p.D175D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	175					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|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)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATAATTTTGTCCTGCAAAA	0.338													A|||	1136	0.300927	0.4584	0.1124	3775	,	,		12488	0.1538		0.1352	False		,,,				2504	0.1646				p.D175D		Atlas-SNP	.											.	MED14	108	.	0			c.C525T						PASS	.	A		1994,1841		442,809,301,381,270	122	122	122		525	3.2	1	X	dbSNP_116	122	1203,5525		74,735,320,1619,1552	no	coding-synonymous	MED14	NM_004229.3		516,1544,621,2000,1822	AA,AG,A,GG,G		17.8805,48.0052,30.266		175/1455	40573157	3197,7366	2203	4300	6503	SO:0001819	synonymous_variant	9282	exon5			AATTTTGTCCTGC	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.525C>T	X.37:g.40573157G>A		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	225	117	0.52	NM_004229	Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	CCDS14254.1																																																																																			G|0.693;A|0.307	0.307	strong		0.338	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		A	40573157	G	A	40573157	2	1	22	1	0	0	0	0	0	0	0	1	9432	1368	48	2		2	MED14	23	40573157	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	21164	40573157	114697403	11145	16253										
DDX3X	1654	hgsc.bcm.edu	37	chrX	41204446	41204446	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgacagatacttggtgttaGatgaagctgatcggatgttg	13	4	0	5			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:41204446G>C	ENST00000399959.2	+	11	1894	c.1039G>C	c.(1039-1041)Gat>Cat	p.D347H	DDX3X_ENST00000457138.2_Missense_Mutation_p.D331H|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	347	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGGTGTTAGATGAAGCTGA	0.393										HNSCC(61;0.18)																											p.D347H		Atlas-SNP	.											.	DDX3X	138	.	0			c.G1039C						PASS	.						145	134	137					X																	41204446		2102	4246	6348	SO:0001583	missense	1654	exon11			GTGTTAGATGAAG	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1039G>C	X.37:g.41204446G>C	ENSP00000382840:p.Asp347His	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	131	25	0.19084	NM_001193416	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598675	0.87055	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.55588	0.51;0.51	5.5	5.5	0.81552	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.099615	0.64402	D	0.000001	D	0.85106	0.5621	H	0.99299	4.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	D	0.91820	0.5466	10	0.87932	D	0	-16.0361	18.5127	0.90923	0.0:0.0:1.0:0.0	.	347;331;359;347	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	H	347;331	ENSP00000382840:D347H;ENSP00000392494:D331H	ENSP00000382840:D347H	D	+	1	0	DDX3X	41089390	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	9.807000	0.99171	2.313000	0.78055	0.597000	0.82753	GAT	.	.	none		0.393	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		C	41204446	G	C	41204446	3	2	22	1	0	0	0	0	1	0	0	0	4358	942	33	4	1081	4	DDX3X	23	41204446	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	631289	41204446	114066114	11146	16254										
DUSP21	63904	hgsc.bcm.edu	37	chrX	44703935	44703935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatgagaaggacctacgtaTgatgatatcaatgtaagcca	9	7	1	3	rs1045031	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:44703935T>C	ENST00000339042.4	+	1	687	c.557T>C	c.(556-558)aTg>aCg	p.M186T		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	186			M -> T (in dbSNP:rs1045031). {ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GACCTACGTATGATGATATCA	0.438													C|||	936	0.247947	0.5219	0.0692	3775	,	,		14198	0.0357		0.0447	False		,,,				2504	0.1196				p.M186T		Atlas-SNP	.											.	DUSP21	39	.	0			c.T557C						PASS	.	C	THR/MET	2217,1618		537,811,332,284,239	55	48	50		557	-2.3	0	X	dbSNP_86	50	416,6312		5,300,106,2123,1766	yes	missense	DUSP21	NM_022076.3	81	542,1111,438,2407,2005	CC,CT,C,TT,T		6.1831,42.1904,24.9266	benign	186/191	44703935	2633,7930	2203	4300	6503	SO:0001583	missense	63904	exon1			TACGTATGATGAT	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.557T>C	X.37:g.44703935T>C	ENSP00000343244:p.Met186Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	130	0.977444	NM_022076	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	CCDS14264.1	325	0.19590114526823388	176	0.5176470588235295	16	0.045714285714285714	19	0.034050179211469536	19	0.025537634408602152	c	0.686	-0.796317	0.02862	0.578096	0.061831	ENSG00000189037	ENST00000339042;ENST00000537377	T	0.03386	3.95	3.95	-2.35	0.06684	.	1.207940	0.05675	N	0.589378	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	9	0.09084	T	0.74	.	7.4753	0.27371	0.0:0.4824:0.1352:0.3823	rs1045031;rs3174429;rs59938456;rs1045031	186	Q9H596	DUS21_HUMAN	T	186;185	ENSP00000343244:M186T	ENSP00000343244:M186T	M	+	2	0	DUSP21	44588879	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.238000	0.08977	-1.069000	0.03153	-1.174000	0.01732	ATG	0|0.015;C|0.254	0.254	strong		0.438	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		C	44703935	T	C	44703935	3	2	22	1	0	0	0	0	1	0	0	0	4820	1464	51	2	559	2	DUSP21	23	44703935	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3499489	44703935	110566625	11147	16255										
CXorf36	79742	hgsc.bcm.edu	37	chrX	45011018	45011018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caaggacttctgggtctgggCggatgctgtccccacactga	13	12	2	1	rs143817529		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:45011018C>A	ENST00000398000.2	-	5	1255	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	394						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						TGGGTCTGGGCGGATGCTGTC	0.572													C||||C|||	161|161	0.042649|0.042649	0.1188|0.1188	0.0043|0.0043	3775|3775	,|,	,|,		12325|12325	0.0|0.0		0.001|0.001	False|False		,,,|,,,				2504|2504	0.0|0.0				p.R394L		Atlas-SNP	.											.	CXorf36	53	.	0			c.G1181T						PASS	.	C	LEU/ARG	336,2291		19,221,77,819,432	63	57	59		1181	0.3	0	X	dbSNP_134	59	0,5498		0,0,0,1916,1666	yes	missense	CXorf36	NM_176819.3	102	19,221,77,2735,2098	AA,AC,A,CC,C		0.0,12.7903,4.1354	benign	394/434	45011018	336,7789	1568	3582	5150	SO:0001583	missense	79742	exon5			TCTGGGCGGATGC	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1181G>T	X.37:g.45011018C>A	ENSP00000381086:p.Arg394Leu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	109	108	0.990826	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	50	0.030138637733574444	36	0.07692307692307693	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	1.583	-0.531173	0.04112	0.127903	0.0	ENSG00000147113	ENST00000398000	T	0.28895	1.59	5.17	0.326	0.15908	.	1.193830	0.06015	N	0.650241	T	0.00178	0.0005	N	0.16307	0.4	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	9	0.27082	T	0.32	.	3.0329	0.06112	0.3241:0.4237:0.0931:0.1592	.	394	Q9H7Y0	CX036_HUMAN	L	394	ENSP00000381086:R394L	ENSP00000381086:R394L	R	-	2	0	CXorf36	44895962	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.848000	0.04326	-0.006000	0.14370	-0.215000	0.12644	CGC	C|0.970;A|0.030	0.030	strong		0.572	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		A	45011018	C	A	45011018	3	1	22	1	0	0	0	0	1	0	0	0	4106	768	27	4	124	4	CXorf36	23	45011018	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	307083	45011018	110259542	11148	16256										
CXorf36	79742	hgsc.bcm.edu	37	chrX	45051111	45051111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgatgcagaggcacagattCtcctgtctgagatctcgttt	10	10	3	4	rs1132201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:45051111C>T	ENST00000398000.2	-	2	457	c.383G>A	c.(382-384)aGa>aAa	p.R128K	RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000477281.1_5'UTR|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R128K	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	128			R -> K (in dbSNP:rs1132201). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GGCACAGATTCTCCTGTCTGA	0.498													C|||	1659	0.43947	0.1324	0.3775	3775	,	,		13466	0.5724		0.2525	False		,,,				2504	0.3998				p.R128K		Atlas-SNP	.											.	CXorf36	53	.	0			c.G383A						PASS	.	C	LYS/ARG,LYS/ARG	774,3061		62,538,112,1032,459	89	84	86		383,383	2.9	1	X	dbSNP_86	86	2185,4543		261,1067,596,1100,1276	yes	missense,missense	CXorf36	NM_024689.2,NM_176819.3	26,26	323,1605,708,2132,1735	TT,TC,T,CC,C		32.4762,20.1825,28.0129	benign,benign	128/183,128/434	45051111	2959,7604	2203	4300	6503	SO:0001583	missense	79742	exon2			CAGATTCTCCTGT	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.383G>A	X.37:g.45051111C>T	ENSP00000381086:p.Arg128Lys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	165	79	0.478788	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	717	0.4321880650994575	48	0.10714285714285714	80	0.29411764705882354	220	0.625	133	0.2078125	C	12.98	2.101528	0.37048	0.201825	0.324762	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.30448	1.62;1.53	5.63	2.92	0.33932	.	0.225472	0.38897	N	0.001527	T	0.00012	0.0000	N	0.26042	0.785	0.40769	P	0.016925999999999997	B;B	0.20052	0.005;0.041	B;B	0.14578	0.006;0.011	T	0.40887	-0.9539	9	0.08599	T	0.76	.	8.5812	0.33630	0.0:0.6796:0.0:0.3204	rs1132201;rs3192766;rs17261166;rs52822123;rs56729282;rs1132201	128;128	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	K	128	ENSP00000381086:R128K;ENSP00000367168:R128K	ENSP00000367168:R128K	R	-	2	0	CXorf36	44936055	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	1.172000	0.31908	0.553000	0.29044	-0.191000	0.12829	AGA	0|0.013;T|0.348	0.348	strong		0.498	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		T	45051111	C	T	45051111	3	4	22	1	0	0	0	0	1	0	0	0	4106	913	32	2	989	2	CXorf36	23	45051111	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	40093	45051111	110219449	11149	16257										
CXorf36	79742	hgsc.bcm.edu	37	chrX	45059838	45059838	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttatttgattgatattctgaCcttatttcttctttaaagaa	4	5	3	4			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:45059838C>A	ENST00000398000.2	-	1	308		c.e1+1		RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000377934.4_Splice_Site|RP11-342D14.1_ENST00000450527.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GATATTCTGACCTTATTTCTT	0.368																																					.		Atlas-SNP	.											.	CXorf36	53	.	0			c.233+1G>T						PASS	.						45	43	43					X																	45059838		2203	4299	6502	SO:0001630	splice_region_variant	79742	exon2			TTCTGACCTTATT	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.233+1G>T	X.37:g.45059838C>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	127	67	0.527559	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Splice_Site	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340498	0.60963	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7275	0.77774	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXorf36	44944782	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.738000	0.68613	2.074000	0.62210	0.415000	0.27848	.	.	.	none		0.368	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	Intron	A	45059838	C	A	45059838	5	1	22	1	0	0	0	0	0	0	1	0	4106	521	18	4	1142	4	CXorf36	23	45059838	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8727	45059838	110210722	11150	16258										
RBM10	8241	hgsc.bcm.edu	37	chrX	47041414	47041414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactactatgacccccagacCggcctctactatgaccccaa	5	17	1	3	rs112102343	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47041414C>T	ENST00000377604.3	+	16	2500	c.1758C>T	c.(1756-1758)acC>acT	p.T586T	RBM10_ENST00000345781.6_Silent_p.T509T|RBM10_ENST00000329236.7_Silent_p.T508T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	586	Tyr-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCCCCAGACCGGCCTCTACT	0.602													C|||	41	0.0108609	0.028	0.0043	3775	,	,		13729	0.001		0.0	False		,,,				2504	0.0				p.T651T	Melanoma(171;120 2705 19495 39241)	Atlas-SNP	.											.	RBM10	117	.	0			c.C1953T						PASS	.		,,,,	149,3686		3,118,25,1511,546	84	75	78		1527,1755,1953,1758,1524	-8.1	0.9	X	dbSNP_132	78	2,6726		0,2,0,2426,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBM10	NM_001204466.1,NM_001204467.1,NM_001204468.1,NM_005676.4,NM_152856.2	,,,,	3,120,25,3937,2418	TT,TC,T,CC,C		0.0297,3.8853,1.4295	,,,,	509/854,585/930,651/996,586/931,508/853	47041414	151,10412	2203	4300	6503	SO:0001819	synonymous_variant	8241	exon16			CCAGACCGGCCTC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1758C>T	X.37:g.47041414C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	144	73	0.506944	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	CCDS14274.1																																																																																			C|0.986;T|0.014	0.014	strong		0.602	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		T	47041414	C	T	47041414	2	4	22	1	0	0	0	0	0	0	0	1	13111	639	23	1		1	RBM10	23	47041414	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1981576	47041414	108229146	11151	16259										
UBA1	7317	hgsc.bcm.edu	37	chrX	47070261	47070261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcacaagctcaggagcgccGttctggtctgggcccaaacg	12	14	4	0	rs2230147	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47070261G>A	ENST00000335972.6	+	19	2403	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	UBA1_ENST00000377269.3_Silent_p.P188P|UBA1_ENST00000377351.4_Silent_p.P740P	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	740					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGGAGCGCCGTTCTGGTCTG	0.537													G|||	364	0.0964238	0.2648	0.0202	3775	,	,		14687	0.0		0.0	False		,,,				2504	0.0				p.P740P		Atlas-SNP	.											.	UBA1	89	.	0			c.G2220A						PASS	.	G	,	1067,2768		149,620,149,863,422	105	81	89		2220,2220	-9.5	0	X	dbSNP_98	89	14,6714		0,10,4,2418,1868	no	coding-synonymous,coding-synonymous	UBA1	NM_003334.3,NM_153280.2	,	149,630,153,3281,2290	AA,AG,A,GG,G		0.2081,27.8227,10.2338	,	740/1059,740/1059	47070261	1081,9482	2203	4300	6503	SO:0001819	synonymous_variant	7317	exon19			AGCGCCGTTCTGG	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2220G>A	X.37:g.47070261G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	180	94	0.522222	NM_153280	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	CCDS14275.1																																																																																			0|0.004;A|0.126	0.126	strong		0.537	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		A	47070261	G	A	47070261	2	1	22	1	0	0	0	0	0	0	0	1	16824	1132	40	1		1	UBA1	23	47070261	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	28847	47070261	108200299	11152	16260										
UBA1	7317	hgsc.bcm.edu	37	chrX	47070468	47070468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	actatgtgatggctgctgccAacctgtttgcccagacctac	9	13	0	2	rs143044923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47070468A>C	ENST00000335972.6	+	20	2491	c.2308A>C	c.(2308-2310)Aac>Cac	p.N770H	UBA1_ENST00000377269.3_Missense_Mutation_p.N218H|UBA1_ENST00000377351.4_Missense_Mutation_p.N770H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	770					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTGCTGCCAACCTGTTTGC	0.622													A|||	15	0.00397351	0.0106	0.0014	3775	,	,		14662	0.0		0.0	False		,,,				2504	0.0				p.N770H		Atlas-SNP	.											.	UBA1	89	.	0			c.A2308C						PASS	.	A	HIS/ASN,HIS/ASN	80,3755		1,63,15,1568,556	94	71	79		2308,2308	4.7	1	X	dbSNP_134	79	1,6727		0,1,0,2427,1872	yes	missense,missense	UBA1	NM_003334.3,NM_153280.2	68,68	1,64,15,3995,2428	CC,CA,C,AA,A		0.0149,2.086,0.7668	probably-damaging,probably-damaging	770/1059,770/1059	47070468	81,10482	2203	4300	6503	SO:0001583	missense	7317	exon20			GCTGCCAACCTGT	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2308A>C	X.37:g.47070468A>C	ENSP00000338413:p.Asn770His	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	143	69	0.482517	NM_153280	Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	5	0.0030138637733574444	2	0.004098360655737705	0	0.0	0	0.0	0	0.0	A	21.3	4.124412	0.77436	0.02086	1.49E-4	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.74632	-0.86;-0.86;-0.86	4.66	4.66	0.58398	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.043287	0.85682	D	0.000000	T	0.82125	0.4969	H	0.95114	3.625	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	D	0.87031	0.2135	10	0.40728	T	0.16	-28.4035	12.3807	0.55305	1.0:0.0:0.0:0.0	.	218;770	Q5JRR6;P22314	.;UBA1_HUMAN	H	770;770;218	ENSP00000366568:N770H;ENSP00000338413:N770H;ENSP00000366481:N218H	ENSP00000338413:N770H	N	+	1	0	UBA1	46955412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.197000	0.51028	1.837000	0.53436	0.430000	0.28490	AAC	A|0.994;C|0.006	0.006	strong		0.622	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		C	47070468	A	C	47070468	3	2	22	1	0	0	0	0	1	0	0	0	16824	130	5	5	2382	5	UBA1	23	47070468	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	207	47070468	108200092	11153	16261										
CDK16	5127	hgsc.bcm.edu	37	chrX	47084037	47084037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacatcaacaagcgcctatcActaccagctgacatccggct	7	15	2	1	rs5952422	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47084037A>G	ENST00000357227.4	+	4	781	c.357A>G	c.(355-357)tcA>tcG	p.S119S	CDK16_ENST00000457458.2_Silent_p.S125S|CDK16_ENST00000276052.6_Silent_p.S193S|CDK16_ENST00000518022.1_Silent_p.S119S	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	119					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGCGCCTATCACTACCAGCTG	0.577													G|||	320	0.0847682	0.233	0.0173	3775	,	,		13696	0.0		0.0	False		,,,				2504	0.0				p.S193S		Atlas-SNP	.											.	CDK16	59	.	0			c.A579G						PASS	.	G	,,	962,2873		129,568,136,935,435	88	78	81		579,357,375	-3.8	0.2	X	dbSNP_114	81	13,6715		0,9,4,2419,1868	no	coding-synonymous,coding-synonymous,coding-synonymous	CDK16	NM_001170460.1,NM_006201.4,NM_033018.3	,,	129,577,140,3354,2303	GG,GA,G,AA,A		0.1932,25.0847,9.2303	,,	193/571,119/497,125/503	47084037	975,9588	2203	4300	6503	SO:0001819	synonymous_variant	5127	exon4			CCTATCACTACCA		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"Cyclin-dependent kinases"	8749	protein-coding gene	gene with protein product	"serine/threonine-protein kinase"	311550	"PCTAIRE protein kinase 1"	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.357A>G	X.37:g.47084037A>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	120	47	0.391667	NM_001170460	A8K280|B7Z7C8|J3KN74|J3KQP7	Silent	SNP	ENST00000357227.4	37	CCDS14276.1	139	0.08378541289933696	94	0.22926829268292684	3	0.00847457627118644	0	0.0	0	0.0	G	2.829	-0.243121	0.05906	0.250847	0.001932	ENSG00000102225	ENST00000523034	.	.	.	5.75	-3.78	0.04333	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999715269	.	.	.	.	.	.	T	0.26677	-1.0096	3	.	.	.	-6.5972	8.755	0.34639	0.4318:0.1598:0.4084:0.0	rs5952422;rs5952422	.	.	.	A	79	.	.	T	+	1	0	CDK16	46968981	0.000000	0.05858	0.170000	0.22879	0.433000	0.31745	-3.209000	0.00557	-0.772000	0.04602	-0.858000	0.03015	ACT	A|0.873;0|0.013	.	strong		0.577	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		G	47084037	A	G	47084037	2	3	22	1	0	0	0	0	0	0	0	1	3132	146	6	2		2	CDK16	23	47084037	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13569	47084037	108186523	11154	16262										
USP11	8237	hgsc.bcm.edu	37	chrX	47107038	47107038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgcctgcaacaaggacagCggccagtggcactactttga	11	11	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47107038C>T	ENST00000218348.3	+	20	2694	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	USP11_ENST00000377107.2_Silent_p.S855S	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	898	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACAAGGACAGCGGCCAGTGGC	0.512																																					p.S898S		Atlas-SNP	.											.	USP11	93	.	0			c.C2694T						PASS	.						156	114	129					X																	47107038		2203	4300	6503	SO:0001819	synonymous_variant	8237	exon20			GGACAGCGGCCAG	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2694C>T	X.37:g.47107038C>T		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	240	111	0.4625	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	CCDS14277.1																																																																																			.	.	none		0.512	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		T	47107038	C	T	47107038	2	4	22	1	0	0	0	0	0	0	0	1	17039	767	27	1		1	USP11	23	47107038	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	23001	47107038	108163522	11155	16263										
ZNF157	7712	hgsc.bcm.edu	37	chrX	47272480	47272480	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tatgagtgtggtgaatgtggGaaattcttccgaatgaagat	13	3	1	4	rs61736399	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47272480G>A	ENST00000377073.3	+	4	1094	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	336					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GTGAATGTGGGAAATTCTTCC	0.418													G|||	23	0.00609272	0.0144	0.0043	3775	,	,		15735	0.0		0.001	False		,,,				2504	0.0				p.G336G		Atlas-SNP	.											.	ZNF157	46	.	0			c.G1008A						PASS	.	G		119,3716		3,94,19,1535,552	39	37	38		1008	0.3	0.6	X	dbSNP_129	38	1,6726		0,1,0,2427,1871	no	coding-synonymous	ZNF157	NM_003446.3		3,95,19,3962,2423	AA,AG,A,GG,G		0.0149,3.103,1.1361		336/507	47272480	120,10442	2203	4299	6502	SO:0001819	synonymous_variant	7712	exon4			ATGTGGGAAATTC	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1008G>A	X.37:g.47272480G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	81	27	0.333333	NM_003446	Q96LE9	Silent	SNP	ENST00000377073.3	37	CCDS14278.1																																																																																			G|0.990;A|0.010	0.010	strong		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		A	47272480	G	A	47272480	2	1	22	1	0	0	0	0	0	0	0	1	17734	1161	41	2		2	ZNF157	23	47272480	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	165442	47272480	107998080	11156	16264										
ZNF157	7712	hgsc.bcm.edu	37	chrX	47272970	47272970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	taggctggtcctggcgttgtAcaatgaagaaagcctctcac	11	10	1	2	rs61736398	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47272970A>G	ENST00000377073.3	+	4	1584	c.1498A>G	c.(1498-1500)Aca>Gca	p.T500A		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	500					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTGGCGTTGTACAATGAAGAA	0.493													A|||	37	0.00980132	0.025	0.0043	3775	,	,		14772	0.0		0.001	False		,,,				2504	0.0				p.T500A		Atlas-SNP	.											.	ZNF157	46	.	0			c.A1498G						PASS	.	A	ALA/THR	191,3644		3,153,32,1476,539	71	60	64		1498	-2	0	X	dbSNP_129	64	5,6723		0,4,1,2424,1871	yes	missense	ZNF157	NM_003446.3	58	3,157,33,3900,2410	GG,GA,G,AA,A		0.0743,4.9804,1.8555	benign	500/507	47272970	196,10367	2203	4300	6503	SO:0001583	missense	7712	exon4			CGTTGTACAATGA	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1498A>G	X.37:g.47272970A>G	ENSP00000366273:p.Thr500Ala	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	139	53	0.381295	NM_003446	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	12	0.007233273056057866	4	0.008264462809917356	2	0.005555555555555556	0	0.0	1	0.0013192612137203166	A	2.829	-0.243005	0.05906	0.049804	7.43E-4	ENSG00000147117	ENST00000377073	T	0.06068	3.35	2.85	-1.99	0.07457	.	.	.	.	.	T	0.00637	0.0021	N	0.16790	0.44	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	8	0.59425	D	0.04	.	9.8782	0.41216	0.2684:0.0:0.7316:0.0	rs61736398	500	P51786	ZN157_HUMAN	A	500	ENSP00000366273:T500A	ENSP00000366273:T500A	T	+	1	0	ZNF157	47157914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.258000	0.08733	-0.564000	0.06070	-0.466000	0.05196	ACA	A|0.984;G|0.016	0.016	strong		0.493	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		G	47272970	A	G	47272970	3	3	22	1	0	0	0	0	1	0	0	0	17734	391	14	2	1512	2	ZNF157	23	47272970	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	490	47272970	107997590	11157	16265										
ZNF41	7592	hgsc.bcm.edu	37	chrX	47308509	47308509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctatgggggaaattgttaccAtttccaaaaatcttgccaag	8	8	1	0	rs34301930	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47308509A>C	ENST00000377065.4	-	5	1299	c.660T>G	c.(658-660)aaT>aaG	p.N220K	ZNF41_ENST00000397050.2_Missense_Mutation_p.N230K|ZNF41_ENST00000313116.7_Missense_Mutation_p.N220K|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AATTGTTACCATTTCCAAAAA	0.368													A|||	113	0.0299338	0.0832	0.0043	3775	,	,		14437	0.0		0.0	False		,,,				2504	0.0				p.N220K		Atlas-SNP	.											.	ZNF41	71	.	0			c.T660G						PASS	.	A	LYS/ASN,LYS/ASN	343,3492		8,285,42,1339,529	150	140	144		660,660	3.2	0.3	X	dbSNP_126	144	3,6725		0,3,0,2425,1872	yes	missense,missense	ZNF41	NM_007130.2,NM_153380.2	94,94	8,288,42,3764,2401	CC,CA,C,AA,A		0.0446,8.9439,3.2756	possibly-damaging,possibly-damaging	220/780,220/780	47308509	346,10217	2203	4300	6503	SO:0001583	missense	7592	exon5			GTTACCATTTCCA	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.660T>G	X.37:g.47308509A>C	ENSP00000366265:p.Asn220Lys	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	230	123	0.534783	NM_007130	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	36	0.0216998191681736	25	0.05296610169491525	0	0.0	0	0.0	0	0.0	A	4.551	0.102356	0.08731	0.089439	4.46E-4	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.06068	3.35;3.35;3.35	3.2	3.2	0.36748	.	0.000000	0.37715	N	0.001972	T	0.00210	0.0006	N	0.08118	0	0.44254	P	0.0028960000000000097	P;P;B;P;P	0.50156	0.932;0.932;0.257;0.932;0.888	B;B;B;P;B	0.47981	0.424;0.424;0.074;0.563;0.36	T	0.37957	-0.9683	9	0.62326	D	0.03	.	9.1657	0.37050	1.0:0.0:0.0:0.0	rs34301930	220;222;230;254;262	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	K	220;220;230	ENSP00000315173:N220K;ENSP00000366265:N220K;ENSP00000380243:N230K	ENSP00000315173:N220K	N	-	3	2	ZNF41	47193453	0.000000	0.05858	0.255000	0.24374	0.075000	0.17131	0.061000	0.14366	1.514000	0.48869	0.412000	0.27726	AAT	A|0.966;C|0.034	0.034	strong		0.368	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		C	47308509	A	C	47308509	3	2	22	1	0	0	0	0	1	0	0	0	17886	214	8	5	1683	5	ZNF41	23	47308509	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	35539	47308509	107962051	11158	16266										
ELK1	2002	hgsc.bcm.edu	37	chrX	47498400	47498400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcccctgcaggagctgcaCtggggagcaccacagcaggc	14	15	0	0	rs1059579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47498400C>T	ENST00000247161.3	-	3	647	c.548G>A	c.(547-549)aGt>aAt	p.S183N	ELK1_ENST00000592066.1_Missense_Mutation_p.S129N|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S183N	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	183			S -> N (in dbSNP:rs1059579). {ECO:0000269|PubMed:2539641}.		cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AGGAGCTGCACTGGGGAGCAC	0.672													T|||	537	0.142252	0.3366	0.0317	3775	,	,		12344	0.0625		0.005	False		,,,				2504	0.002				p.S183N		Atlas-SNP	.											.	ELK1	54	.	0			c.G548A						PASS	.	T	ASN/SER,ASN/SER	1349,2481		198,751,202,682,366	17	13	14		548,548	-0.9	0.3	X	dbSNP_86	14	28,6691		1,19,7,2407,1858	no	missense,missense	ELK1	NM_001114123.1,NM_005229.3	46,46	199,770,209,3089,2224	TT,TC,T,CC,C		0.4167,35.2219,13.0534	benign,benign	183/429,183/429	47498400	1377,9172	2199	4292	6491	SO:0001583	missense	2002	exon4			GCTGCACTGGGGA	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.548G>A	X.37:g.47498400C>T	ENSP00000247161:p.Ser183Asn	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	180	59	0.327778	NM_001114123	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	CCDS14283.1	230	0.13863773357444242	123	0.33064516129032256	10	0.027932960893854747	26	0.046762589928057555	1	0.0013192612137203166	T	7.193	0.592017	0.13812	0.352219	0.004167	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.21734	1.99;1.99	4.02	-0.858	0.10689	.	1.043230	0.07432	N	0.895821	T	0.00012	0.0000	N	0.02539	-0.55	0.09310	P	0.9999999769773	B	0.02656	0.0	B	0.01281	0.0	T	0.49679	-0.8914	9	0.16420	T	0.52	.	10.7665	0.46297	0.0:0.6834:0.0:0.3166	rs1059579	183	P19419	ELK1_HUMAN	N	183	ENSP00000247161:S183N;ENSP00000366182:S183N	ENSP00000247161:S183N	S	-	2	0	ELK1	47383344	0.256000	0.24012	0.318000	0.25279	0.616000	0.37450	-0.277000	0.08502	-0.454000	0.07066	-0.407000	0.06327	AGT	C|0.847;T|0.153	0.153	strong		0.672	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		T	47498400	C	T	47498400	3	4	22	1	0	0	0	0	1	0	0	0	5059	565	20	2	754	2	ELK1	23	47498400	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	189891	47498400	107772160	11159	16267										
ZNF630	57232	hgsc.bcm.edu	37	chrX	47918205	47918205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccacactcagtacactcataGggtttctcccctgtgtgaac	7	14	3	1	rs501128	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:47918205G>A	ENST00000409324.3	-	5	1852	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P	ZNF630_ENST00000442455.3_Silent_p.P528P|ZNF630_ENST00000276054.4_Silent_p.P418P|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	542					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(1)|large_intestine(6)|lung(11)|ovary(1)	19						TACACTCATAGGGTTTCTCCC	0.448													G|||	2415	0.639735	0.4486	0.5231	3775	,	,		15237	0.6567		0.4115	False		,,,				2504	0.3916				p.P542P		Atlas-SNP	.											.	ZNF630	71	.	0			c.C1626T						PASS	.	G	,	2169,1655		539,767,324,325,238	52	48	49		1626,1584	-2.4	0	X	dbSNP_83	49	3605,3110		717,1173,998,538,861	no	coding-synonymous,coding-synonymous	ZNF630	NM_001037735.2,NM_001190255.1	,	1256,1940,1322,863,1099	AA,AG,A,GG,G		46.3142,43.2793,45.213	,	542/658,528/644	47918205	5774,4765	2193	4287	6480	SO:0001819	synonymous_variant	57232	exon5			CTCATAGGGTTTC	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1626C>T	X.37:g.47918205G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	149	44	0.295302	NM_001037735	F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	CCDS35237.2																																																																																			0|0.004;A|0.588	0.588	strong		0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		A	47918205	G	A	47918205	2	1	22	1	0	0	0	0	0	0	0	1	18051	987	35	2		2	ZNF630	23	47918205	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	419805	47918205	107352355	11160	16268										
SSX3	10214	hgsc.bcm.edu	37	chrX	48213485	48213485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atcattcccctggaagtctgTgacccgtttattacgcatga	8	11	2	2	rs150370741	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48213485T>C	ENST00000298396.2	-	4	281	c.229A>G	c.(229-231)Aca>Gca	p.T77A	SSX3_ENST00000376893.3_Missense_Mutation_p.T77A|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TGGAAGTCTGTGACCCGTTTA	0.478													C|||	164	0.0434437	0.1195	0.0086	3775	,	,		12958	0.0		0.0	False		,,,				2504	0.0				p.T77A	Colon(37;227 826 19399 40970 48007)	Atlas-SNP	.											.	SSX3	64	.	0			c.A229G						PASS	.	C	ALA/THR,ALA/THR	623,3212		38,455,92,1139,479	143	128	133		229,229	-2.5	0	X	dbSNP_134	133	4,6724		0,4,0,2424,1872	no	missense,missense	SSX3	NM_021014.2,NM_175711.1	58,58	38,459,92,3563,2351	CC,CT,C,TT,T		0.0595,16.2451,5.9358	benign,benign	77/189,77/171	48213485	627,9936	2203	4300	6503	SO:0001583	missense	10214	exon4			AGTCTGTGACCCG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.229A>G	X.37:g.48213485T>C	ENSP00000298396:p.Thr77Ala	Somatic	713	0	0		WXS	Illumina HiSeq	Phase_I	760	357	0.469737	NM_021014	O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	CCDS14291.1	82	0.04942736588306208	53	0.12045454545454545	2	0.005555555555555556	0	0.0	0	0.0	t	0.036	-1.308354	0.01342	0.162451	5.95E-4	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.07567	3.19;3.18	1.52	-2.54	0.06307	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.846180	0.02818	N	0.125151	T	0.00039	0.0001	L	0.33710	1.025	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.39354	-0.9618	9	0.07644	T	0.81	.	5.6519	0.17620	0.0:0.3735:0.0:0.6265	.	77;77	Q9BRW7;Q99909	.;SSX3_HUMAN	A	77	ENSP00000298396:T77A;ENSP00000366090:T77A	ENSP00000298396:T77A	T	-	1	0	SSX3	48098429	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.278000	0.00529	-1.051000	0.03226	-2.666000	0.00145	ACA	T|0.940;C|0.060	0.060	strong		0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		C	48213485	T	C	48213485	3	2	22	1	0	0	0	0	1	0	0	0	15204	1696	59	2	404	2	SSX3	23	48213485	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	295280	48213485	107057075	11161	16269										
SLC38A5	92745	hgsc.bcm.edu	37	chrX	48326270	48326270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgactcaccccacagcatcCgaagggagggctccattcat	9	15	2	1	rs34099520	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48326270C>T	ENST00000376876.3	-	2	885	c.42G>A	c.(40-42)tcG>tcA	p.S14S	SLC38A5_ENST00000317669.5_Silent_p.S14S|SLC38A5_ENST00000376875.1_5'Flank			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	14					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCACAGCATCCGAAGGGAGGG	0.557													C|||	15	0.00397351	0.0113	0.0	3775	,	,		13307	0.0		0.0	False		,,,				2504	0.0				p.S14S		Atlas-SNP	.											.	SLC38A5	98	.	0			c.G42A						PASS	.	C		45,3790		1,34,9,1597,562	58	47	51		42	-2.4	0	X	dbSNP_126	51	1,6725		0,0,1,2428,1869	no	coding-synonymous	SLC38A5	NM_033518.2		1,34,10,4025,2431	TT,TC,T,CC,C		0.0149,1.1734,0.4356		14/473	48326270	46,10515	2203	4298	6501	SO:0001819	synonymous_variant	92745	exon3			AGCATCCGAAGGG	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.42G>A	X.37:g.48326270C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	145	64	0.441379	NM_033518	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	CCDS14293.1																																																																																			C|0.997;T|0.003	0.003	strong		0.557	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		T	48326270	C	T	48326270	2	4	22	1	0	0	0	0	0	0	0	1	14607	639	23	1		1	SLC38A5	23	48326270	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	112785	48326270	106944290	11162	16270										
WAS	7454	hgsc.bcm.edu	37	chrX	48546837	48546837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgtgcggcaggagatgaggcGccagggtgagaccctgcttc	17	10	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48546837G>A	ENST00000376701.4	+	9	1001	c.926G>A	c.(925-927)cGc>cAc	p.R309H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	309					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GAGATGAGGCGCCAGGGTGAG	0.562			"Mis, N, F, S"			lymphoma																															p.R309H		Atlas-SNP	.		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	.	WAS	51	.	0			c.G926A						PASS	.						41	35	37					X																	48546837		2203	4300	6503	SO:0001583	missense	7454	exon9			TGAGGCGCCAGGG	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.926G>A	X.37:g.48546837G>A	ENSP00000365891:p.Arg309His	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	255	68	0.266667	NM_000377	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110307	0.77210	.	.	ENSG00000015285	ENST00000376701	D	0.95918	-3.85	4.71	4.71	0.59529	Wiscott-Aldrich syndrome, C-terminal (1);	0.055809	0.64402	D	0.000002	D	0.96679	0.8916	L	0.57536	1.79	0.43947	D	0.99661	D	0.89917	1.0	D	0.69142	0.962	D	0.97151	0.9831	10	0.72032	D	0.01	-11.737	14.3592	0.66757	0.0:0.0:1.0:0.0	.	309	P42768	WASP_HUMAN	H	309	ENSP00000365891:R309H	ENSP00000365891:R309H	R	+	2	0	WAS	48431781	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	4.816000	0.62642	2.055000	0.61198	0.431000	0.28591	CGC	.	.	none		0.562	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		A	48546837	G	A	48546837	3	1	22	1	0	0	0	0	1	0	0	0	17248	1087	38	1	960	1	WAS	23	48546837	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	220567	48546837	106723723	11163	16271										
KCND1	3750	hgsc.bcm.edu	37	chrX	48820064	48820064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcttggcattgaggctggaGcggctgtggacaagggtgga	20	6	0	1	rs3027483	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48820064G>A	ENST00000218176.3	-	6	3019	c.1722C>T	c.(1720-1722)cgC>cgT	p.R574R	KCND1_ENST00000376477.1_Silent_p.R197R	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	574					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TGAGGCTGGAGCGGCTGTGGA	0.577													g|||	357	0.0945695	0.2602	0.0187	3775	,	,		12645	0.0		0.0	False		,,,				2504	0.0				p.R574R		Atlas-SNP	.											.	KCND1	63	.	0			c.C1722T						PASS	.			1078,2757		136,643,163,853,408	34	33	33		1722	4	1	X	dbSNP_102	33	5,6723		0,3,2,2425,1870	no	coding-synonymous	KCND1	NM_004979.4		136,646,165,3278,2278	AA,AG,A,GG,G		0.0743,28.1095,10.2528		574/648	48820064	1083,9480	2203	4300	6503	SO:0001819	synonymous_variant	3750	exon6			GCTGGAGCGGCTG	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1722C>T	X.37:g.48820064G>A		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	280	135	0.482143	NM_004979	A6NEF1|B2RCG0|O75671	Silent	SNP	ENST00000218176.3	37	CCDS14314.1																																																																																			G|0.884;A|0.116	0.116	strong		0.577	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		A	48820064	G	A	48820064	2	1	22	1	0	0	0	0	0	0	0	1	8018	958	34	2		2	KCND1	23	48820064	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	273227	48820064	106450496	11164	16272										
GRIPAP1	56850	hgsc.bcm.edu	37	chrX	48847444	48847444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggccaggacggtgggggccGggccccctgggggatccccc	20	15	0	0	rs61735977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48847444G>A	ENST00000376441.1	-	7	570	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P179L|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P134L|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.P126L|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	179						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGTGGGGGCCGGGCCCCCTGG	0.607													g|||	210	0.0556291	0.1536	0.0101	3775	,	,		13683	0.0		0.0	False		,,,				2504	0.0				p.P179L		Atlas-SNP	.											.	GRIPAP1	128	.	0			c.C536T						PASS	.	G	LEU/PRO,LEU/PRO	586,3247		42,415,87,1174,484	39	39	39		536,377	-3.4	0	X	dbSNP_129	39	3,6720		1,0,1,2425,1870	yes	missense,missense	GRIPAP1	NM_020137.3,NM_207672.1	98,98	43,415,88,3599,2354	AA,AG,A,GG,G		0.0446,15.2883,5.5798	benign,benign	179/842,126/626	48847444	589,9967	2202	4297	6499	SO:0001583	missense	56850	exon7			GGGGCCGGGCCCC	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.536C>T	X.37:g.48847444G>A	ENSP00000365624:p.Pro179Leu	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	274	144	0.525547	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	68	0.040988547317661245	42	0.09375	4	0.011049723756906077	0	0.0	0	0.0	G	5.167	0.216332	0.09810	0.152883	4.46E-4	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.93	-3.43	0.04810	.	0.972273	0.08459	N	0.942672	T	0.00109	0.0003	N	0.22421	0.69	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.24657	-1.0154	8	0.25751	T	0.34	0.5395	1.8839	0.03234	0.123:0.1269:0.4976:0.2524	.	126;69;179	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	L	179;134;179;179;126	.	ENSP00000365606:P126L	P	-	2	0	GRIPAP1	48732388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.152000	0.10159	-0.872000	0.04037	-1.012000	0.02466	CCG	G|0.945;A|0.055	0.055	strong		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48847444	G	A	48847444	3	1	22	1	0	0	0	0	1	0	0	0	6789	1116	39	1	2123	1	GRIPAP1	23	48847444	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27380	48847444	106423116	11165	16273										
GPKOW	27238	hgsc.bcm.edu	37	chrX	48970655	48970655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttggcagttgcaccaaagcCcggctccgtgctctgtcccg	11	16	1	0	rs34057359	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:48970655C>T	ENST00000156109.5	-	11	1413	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	445						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GCACCAAAGCCCGGCTCCGTG	0.562													C|||	409	0.108344	0.289	0.0375	3775	,	,		16222	0.0		0.001	False		,,,				2504	0.0				p.R445R		Atlas-SNP	.											.	GPKOW	38	.	0			c.G1335A						PASS	.	C		1294,2541		185,734,190,713,381	148	110	123		1335	0.5	0.4	X	dbSNP_126	123	8,6720		0,8,0,2420,1872	no	coding-synonymous	GPKOW	NM_015698.4		185,742,190,3133,2253	TT,TC,T,CC,C		0.1189,33.7419,12.326		445/477	48970655	1302,9261	2203	4300	6503	SO:0001819	synonymous_variant	27238	exon11			CAAAGCCCGGCTC	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1335G>A	X.37:g.48970655C>T		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	207	102	0.492754	NM_015698	Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	CCDS35251.1																																																																																			C|0.873;T|0.127	0.127	strong		0.562	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		T	48970655	C	T	48970655	2	4	22	1	0	0	0	0	0	0	0	1	6613	610	22	2		2	GPKOW	23	48970655	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	123211	48970655	106299905	11166	16274										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49070329	49070329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgcccaccacaataagagCgtcaaacgtgttccaggcat	9	13	1	1	rs34308720	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49070329C>T	ENST00000376265.2	-	31	3836	c.3775G>A	c.(3775-3777)Gct>Act	p.A1259T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1248T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1194T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1259			A -> T (in dbSNP:rs34308720).		axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAATAAGAGCGTCAAACGTG	0.512													c|||	16	0.00423841	0.0121	0.0	3775	,	,		15638	0.0		0.0	False		,,,				2504	0.0				p.A1259T		Atlas-SNP	.											.	CACNA1F	218	.	0			c.G3775A						PASS	.	C	THR/ALA	73,3762		0,64,9,1568,562	135	88	104		3775	5	1	X	dbSNP_126	104	0,6728		0,0,0,2428,1872	yes	missense	CACNA1F	NM_005183.2	58	0,64,9,3996,2434	TT,TC,T,CC,C		0.0,1.9035,0.6911	possibly-damaging	1259/1978	49070329	73,10490	2203	4300	6503	SO:0001583	missense	778	exon31			TAAGAGCGTCAAA	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3775G>A	X.37:g.49070329C>T	ENSP00000365441:p.Ala1259Thr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	4	0.0024110910186859553	3	0.006122448979591836	0	0.0	0	0.0	0	0.0	C	22.4	4.288051	0.80803	0.019035	0.0	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98400	-4.91;-4.91;-4.91	4.97	4.97	0.65823	Ion transport (1);	0.053644	0.64402	D	0.000001	D	0.96002	0.8698	L	0.28014	0.82	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.973	D	0.94804	0.7973	10	0.72032	D	0.01	.	16.1084	0.81241	0.0:1.0:0.0:0.0	rs34308720	1248;1259	F5CIQ9;O60840	.;CAC1F_HUMAN	T	1194;1248;1259	ENSP00000365427:A1194T;ENSP00000321618:A1248T;ENSP00000365441:A1259T	ENSP00000321618:A1248T	A	-	1	0	CACNA1F	48957273	0.995000	0.38212	1.000000	0.80357	0.634000	0.38068	1.260000	0.32968	2.053000	0.61076	0.529000	0.55759	GCT	C|0.993;T|0.007	0.007	strong		0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49070329	C	T	49070329	3	4	22	1	0	0	0	0	1	0	0	0	2543	768	27	1	2230	1	CACNA1F	23	49070329	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	99674	49070329	106200231	11167	16275										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49071964	49071964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggtaattatagatggggccAtggtcctctgcatatgcatc	11	9	1	1	rs2075866	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49071964A>G	ENST00000376265.2	-	28	3370	c.3309T>C	c.(3307-3309)caT>caC	p.H1103H	CACNA1F_ENST00000323022.5_Silent_p.H1092H|CACNA1F_ENST00000376251.1_Silent_p.H1038H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1103	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGGGGCCATGGTCCTCTG	0.522													g|||	2084	0.552053	0.6278	0.4481	3775	,	,		9881	0.5179		0.2097	False		,,,				2504	0.2147				p.H1103H		Atlas-SNP	.											.	CACNA1F	218	.	0			c.T3309C						PASS	.			2842,993		912,603,415,117,156	99	80	86		3309	-0.1	0	X	dbSNP_96	86	1971,4757		217,988,549,1223,1323	no	coding-synonymous	CACNA1F	NM_005183.2		1129,1591,964,1340,1479	GG,GA,G,AA,A		29.2955,25.8931,45.5647		1103/1978	49071964	4813,5750	2203	4300	6503	SO:0001819	synonymous_variant	778	exon28			GGGGCCATGGTCC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3309T>C	X.37:g.49071964A>G		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	150	150	1	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																			0|0.014;T|0.004	.	strong		0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		G	49071964	A	G	49071964	2	3	22	1	0	0	0	0	0	0	0	1	2543	214	8	2		2	CACNA1F	23	49071964	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1635	49071964	106198596	11168	16276										
CACNA1F	778	hgsc.bcm.edu	37	chrX	49076224	49076225	+	In_Frame_Ins	INS	-	-	TCC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcttcttcctcttctINStcctcctcctcctcctcctc					rs112450928|rs375862263|rs377271774		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49076224_49076225insTCC	ENST00000376265.2	-	20	2505_2506	c.2444_2445insGGA	c.(2443-2445)gaa>gaGGAa	p.815_815E>EE	CACNA1F_ENST00000323022.5_In_Frame_Ins_p.804_804E>EE|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_In_Frame_Ins_p.750_750E>EE	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	815	Poly-Glu.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	cttcctcttcttcctcctcctc	0.505														365	0.0966887	0.2466	0.0331	3775	,	,		13574	0.0		0.008	False		,,,				2504	0.0082				p.E815delinsEE		Pindel,Atlas-Indel	.											.	CACNA1F	218	.	0			c.2445_2446insGGA						PASS	.																																			SO:0001652	inframe_insertion	778	exon20			.	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2442_2444dupGGA	X.37:g.49076231_49076233dupTCC	ENSP00000365441:p.Glu825dup	Somatic	84	.	.		WXS	Illumina HiSeq	Phase_I	112	24	0.214	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	In_Frame_Ins	INS	ENST00000376265.2	37	CCDS35253.1																																																																																			-|0.908;TCC|0.092	0.092	strong		0.505	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		TCC	49076225	-	TCC	49076224	7	5	22	1	0	1	1	0	0	0	0	0	2543	1606	56	0	3604	0	CACNA1F	23	49076224	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	4260	49076224	106194336	11169	16277										
PPP1R3F	89801	hgsc.bcm.edu	37	chrX	49126714	49126714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgcccgcgccgggccgtCtggagcgcttggggcgcgtc	18	16	1	0	rs111938103		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49126714C>T	ENST00000055335.6	+	1	398	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	128	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCCGGGCCGTCTGGAGCGCTT	0.761													c|||	321	0.0850331	0.2254	0.0231	3775	,	,		6517	0.0		0.0	False		,,,				2504	0.0072				p.L128L		Atlas-SNP	.											.	PPP1R3F	56	.	0			c.C382T						PASS	.		,	536,2408		20,412,84,850,296	3	3	3		,382	3.3	1	X	dbSNP_132	3	4,5429		0,3,1,2043,1340	no	intron,coding-synonymous	PPP1R3F	NM_001184745.1,NM_033215.4	,	20,415,85,2893,1636	TT,TC,T,CC,C		0.0736,18.2065,6.4462	,	,128/800	49126714	540,7837	1662	3387	5049	SO:0001819	synonymous_variant	89801	exon1			GGCCGTCTGGAGC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.382C>T	X.37:g.49126714C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	16	14	0.875	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																			C|0.941;T|0.059	0.059	strong		0.761	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49126714	C	T	49126714	2	4	22	1	0	0	0	0	0	0	0	1	12375	912	32	2		2	PPP1R3F	23	49126714	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	50490	49126714	106143846	11170	16278										
PPP1R3F	89801	hgsc.bcm.edu	37	chrX	49137916	49137916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaacatggatgataacacctTtgccatgggtaagcaattgg	11	7	0	1	rs17148347	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49137916T>C	ENST00000055335.6	+	2	1068	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.F23S|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.F6S|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.F6S|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.F6S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	351			F -> S (in dbSNP:rs17148347).		regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GATAACACCTTTGCCATGGGT	0.433													C|||	340	0.0900662	0.2405	0.0231	3775	,	,		15353	0.0		0.0	False		,,,				2504	0.0061				p.F351S		Atlas-SNP	.											.	PPP1R3F	56	.	0			c.T1052C						PASS	.	C	SER/PHE,SER/PHE	985,2850		118,601,148,913,423	102	81	88		17,1052	2.6	0	X	dbSNP_123	88	5,6723		0,4,1,2424,1871	yes	missense,missense	PPP1R3F	NM_001184745.1,NM_033215.4	155,155	118,605,149,3337,2294	CC,CT,C,TT,T		0.0743,25.6845,9.3723	benign,benign	6/454,351/800	49137916	990,9573	2203	4300	6503	SO:0001583	missense	89801	exon2			ACACCTTTGCCAT		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1052T>C	X.37:g.49137916T>C	ENSP00000055335:p.Phe351Ser	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	128	59	0.460938	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	100	0.06027727546714889	65	0.14705882352941177	7	0.019662921348314606	0	0.0	0	0.0	C	0.009	-1.809591	0.00606	0.256845	7.43E-4	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.51574	0.98;1.1;0.7;0.98;0.98	4.46	2.64	0.31445	.	0.552969	0.15282	N	0.270636	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35400	-0.9790	9	0.14656	T	0.56	1.4767	5.832	0.18586	0.0:0.633:0.0:0.367	rs17148347;rs52792101;rs59868791;rs17148347	23;37;351	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	S	6;23;351;6;6	ENSP00000420687:F6S;ENSP00000415548:F23S;ENSP00000055335:F351S;ENSP00000417535:F6S;ENSP00000365359:F6S	ENSP00000055335:F351S	F	+	2	0	PPP1R3F	49024860	0.247000	0.23920	0.042000	0.18584	0.007000	0.05969	0.130000	0.15850	0.099000	0.17552	-0.170000	0.13304	TTT	0|0.016;C|0.097	0.097	strong		0.433	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		C	49137916	T	C	49137916	3	2	22	1	0	0	0	0	1	0	0	0	12375	1841	64	2	1058	2	PPP1R3F	23	49137916	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11202	49137916	106132644	11171	16279										
PPP1R3F	89801	hgsc.bcm.edu	37	chrX	49142987	49142987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcccgttctgtggtagccaCgatgggagatgtgtggctcc	16	10	1	1	rs372361395		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49142987C>T	ENST00000055335.6	+	4	1851	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T266M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T266M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T266M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T283M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	612					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GTGGTAGCCACGATGGGAGAT	0.612													C|||	1	0.000264901	0.0	0.0	3775	,	,		12213	0.001		0.0	False		,,,				2504	0.0				p.T612M		Atlas-SNP	.											.	PPP1R3F	56	.	0			c.C1835T						PASS	.		MET/THR,MET/THR	1,3833		0,1,1631,570	36	26	29		797,1835	3.8	0.9	X		29	0,6728		0,0,2428,1872	no	missense,missense	PPP1R3F	NM_001184745.1,NM_033215.4	81,81	0,1,4059,2442	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging	266/454,612/800	49142987	1,10561	2202	4300	6502	SO:0001583	missense	89801	exon4			TAGCCACGATGGG		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1835C>T	X.37:g.49142987C>T	ENSP00000055335:p.Thr612Met	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	110	54	0.490909	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331209	0.41297	2.61E-4	0.0	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59224	0.7;0.71;0.28;0.7;0.7	4.71	3.82	0.43975	.	0.521490	0.17939	N	0.156901	T	0.60625	0.2283	L	0.27053	0.805	0.26861	N	0.967952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65987	0.917;0.917;0.94	T	0.53408	-0.8443	10	0.87932	D	0	-0.2653	10.192	0.43032	0.0:0.8014:0.1986:0.0	.	283;297;612	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	M	266;283;612;266;266	ENSP00000420687:T266M;ENSP00000415548:T283M;ENSP00000055335:T612M;ENSP00000417535:T266M;ENSP00000365359:T266M	ENSP00000055335:T612M	T	+	2	0	PPP1R3F	49029931	0.942000	0.31987	0.876000	0.34364	0.775000	0.43874	0.261000	0.18442	1.027000	0.39758	0.509000	0.49947	ACG	.	.	weak		0.612	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49142987	C	T	49142987	3	4	22	1	0	0	0	0	1	0	0	0	12375	536	19	1	1849	1	PPP1R3F	23	49142987	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	5071	49142987	106127573	11172	16280										
CLCN5	1184	hgsc.bcm.edu	37	chrX	49854942	49854942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atccgtctcaatggatacccCtttcttgaagccaaagaaga	7	11	2	3	rs34173954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49854942C>T	ENST00000307367.2	+	10	1995	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P	CLCN5_ENST00000376088.3_Silent_p.P638P|CLCN5_ENST00000376091.3_Silent_p.P638P|CLCN5_ENST00000376108.3_Silent_p.P568P			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	568					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGGATACCCCTTTCTTGAAG	0.512													C|||	238	0.0630464	0.1717	0.0159	3775	,	,		14843	0.0		0.0	False		,,,				2504	0.0				p.P638P		Atlas-SNP	.											.	CLCN5	137	.	0			c.C1914T						PASS	.	C	,,	792,3043		84,519,105,1029,466	114	95	101		1704,1914,1914	2.9	1	X	dbSNP_126	101	5,6723		0,4,1,2424,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	CLCN5	NM_000084.2,NM_001127898.1,NM_001127899.1	,,	84,523,106,3453,2337	TT,TC,T,CC,C		0.0743,20.6519,7.5452	,,	568/747,638/817,638/817	49854942	797,9766	2203	4300	6503	SO:0001819	synonymous_variant	1184	exon13			ATACCCCTTTCTT	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1704C>T	X.37:g.49854942C>T		Somatic	262	1	0.00381679		WXS	Illumina HiSeq	Phase_I	270	270	1	NM_001127898	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																			C|0.910;T|0.090	0.090	strong		0.512	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			T	49854942	C	T	49854942	2	4	22	1	0	0	0	0	0	0	0	1	3466	668	24	2		2	CLCN5	23	49854942	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	711955	49854942	105415618	11173	16281										
AKAP4	8852	hgsc.bcm.edu	37	chrX	49957346	49957346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcctggcattgttcttccGctttgtcagatctgttggac	10	11	3	1	rs12012704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:49957346G>C	ENST00000376056.2	-	5	2141	c.1991C>G	c.(1990-1992)gCg>gGg	p.A664G	AKAP4_ENST00000376064.3_Missense_Mutation_p.A664G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.A290G|AKAP4_ENST00000358526.2_Missense_Mutation_p.A673G					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGTTCTTCCGCTTTGTCAGA	0.468													C|||	239	0.0633113	0.1755	0.0086	3775	,	,		17339	0.0		0.001	False		,,,				2504	0.0				p.A673G		Atlas-SNP	.											.	AKAP4	131	.	0			c.C2018G						PASS	.		GLY/ALA,GLY/ALA	758,3077		55,528,120,1049,451	128	89	102		2018,1991	-0.2	0	X	dbSNP_120	102	3,6725		0,3,0,2425,1872	yes	missense,missense	AKAP4	NM_003886.2,NM_139289.1	60,60	55,531,120,3474,2323	CC,CG,C,GG,G		0.0446,19.7653,7.2044	benign,benign	673/855,664/846	49957346	761,9802	2203	4300	6503	SO:0001583	missense	8852	exon5			TCTTCCGCTTTGT	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1991C>G	X.37:g.49957346G>C	ENSP00000365224:p.Ala664Gly	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	185	98	0.52973	NM_003886		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.398309	0.00198	0.197653	4.46E-4	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.02	-0.234	0.13074	A-kinase anchor 110kDa, C-terminal (1);	1.817120	0.03350	N	0.196131	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.11235	0.0;0.004	B;B	0.10450	0.0;0.005	T	0.41270	-0.9518	8	.	.	.	.	2.4569	0.04532	0.4695:0.2774:0.1517:0.1014	rs12012704;rs52831575;rs58361299;rs12012704	673;290	Q5JQC9;A6ND82	AKAP4_HUMAN;.	G	664;290;673;664	ENSP00000365224:A664G;ENSP00000365226:A290G;ENSP00000351327:A673G;ENSP00000365232:A664G	.	A	-	2	0	AKAP4	49844086	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.017000	0.03630	-0.823000	0.04301	-1.207000	0.01640	GCG	A|0.000;C|0.063;G|0.936	0.063	strong		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		C	49957346	G	C	49957346	3	2	22	1	0	0	0	0	1	0	0	0	453	1087	38	4	554	4	AKAP4	23	49957346	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	102404	49957346	105313214	11174	16282										
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350674	50350674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactggggtggcagctcctcTtcctcctcctctgcctcctc	8	18	2	0	rs3747282	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350674T>C	ENST00000289292.7	-	6	3751	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	SHROOM4_ENST00000460112.3_Silent_p.E1040E|SHROOM4_ENST00000376020.2_Silent_p.E1156E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCAGctcctcttcctcctcct	0.557													T|||	1132	0.299868	0.1921	0.1758	3775	,	,		12102	0.2034		0.2266	False		,,,				2504	0.3303				p.E1156E		Atlas-SNP	.											.	SHROOM4	171	.	1	Substitution - coding silent(1)	skin(1)	c.A3468G						PASS	.	T		997,2838		119,604,155,909,416	31	27	28		3468	-1.4	0.5	X	dbSNP_107	28	2283,4445		295,1064,629,1069,1243	no	coding-synonymous	SHROOM4	NM_020717.3		414,1668,784,1978,1659	CC,CT,C,TT,T		33.9328,25.9974,31.0518		1156/1494	50350674	3280,7283	2203	4300	6503	SO:0001819	synonymous_variant	57477	exon6			CTCCTCTTCCTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3468A>G	X.37:g.50350674T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_020717	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			T|0.703;C|0.297	0.297	strong		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		C	50350674	T	C	50350674	2	2	22	1	0	0	0	0	0	0	0	1	14296	1606	56	3		3	SHROOM4	23	50350674	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	393328	50350674	104919886	11175	16283			39	68		6	4	109	N	T_G_C_-	9.025409e-06
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350728	50350729	+	In_Frame_Ins	INS	-	-	TCC													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttcctcttcttcttcttctINStcctcctcctcctcctcctc					rs6614552|rs375199494|rs143151534		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350728_50350729insTCC	ENST00000289292.7	-	6	3696_3697	c.3413_3414insGGA	c.(3412-3414)gaa>gaGGAa	p.1138_1138E>EE	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1022_1022E>EE|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1138_1138E>EE			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1138	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cttcttcttcttcctcctcctc	0.559														968	0.256424	0.1286	0.1614	3775	,	,		11689	0.1885		0.2127	False		,,,				2504	0.2883				p.E1138delinsEE		Atlas-Indel	.											.	SHROOM4	171	.	0			c.3414_3415insGGA						PASS	.																																			SO:0001652	inframe_insertion	57477	exon6			.	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3411_3413dupGGA	X.37:g.50350735_50350737dupTCC	ENSP00000289292:p.Glu1151dup	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	71	12	0.169014	NM_020717	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																			-|0.700;TCC|0.300	0.300	strong		0.559	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		TCC	50350729	-	TCC	50350728	7	5	22	1	0	1	1	0	0	0	0	0	14296	1606	56	0	1083	0	SHROOM4	23	50350728	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	54	50350728	104919832	11176	16284			39	68		6	4	109	N	T_G_C_-	9.025409e-06
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350751	50350751	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcctcctcctcctcctcctGttgcttctgctgctgctgtt					rs201290098		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350751G>C	ENST00000289292.7	-	6	3674	c.3391C>G	c.(3391-3393)Cag>Gag	p.Q1131E	SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q1015E|SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q1131E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1131	Gln-rich.			KQQ -> QQQQKQQE (in Ref. 1; BAA86516 and 3; AAI51241). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tcctcctcctgttgcttctgc	0.582																																					p.Q1131E		Atlas-SNP	.											.	SHROOM4	171	.	0			c.C3391G						PASS	.						15	14	15					X																	50350751		2199	4294	6493	SO:0001583	missense	57477	exon6			CCTCCTGTTGCTT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3391C>G	X.37:g.50350751G>C	ENSP00000289292:p.Gln1131Glu	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	70	6	0.0857143	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554911	0.00918	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.06449	3.3;3.3;3.3	4.89	-0.0454	0.13851	.	1.383290	0.04423	N	0.367895	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36456	-0.9747	10	0.02654	T	1	.	4.0399	0.09746	0.093:0.4322:0.3193:0.1556	.	1131	Q9ULL8	SHRM4_HUMAN	E	1131;1131;1015	ENSP00000289292:Q1131E;ENSP00000365188:Q1131E;ENSP00000421450:Q1015E	ENSP00000289292:Q1131E	Q	-	1	0	SHROOM4	50367491	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.374000	0.20501	-0.047000	0.13423	-0.434000	0.05882	CAG	.	.	weak		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		C	50350751	G	C	50350751	3	2	22	1	0	0	0	0	1	0	0	0	14296	1386	48	4	1106	4	SHROOM4	23	50350751	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23	50350751	104919809	11177	16285	351	2	39	68		6	4	109	N	T_G_C_-	9.025409e-06
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																					p.Q1128delinsQQQQQ		Pindel,Atlas-Indel	.											.	SHROOM4	171	.	0			c.3384_3385insACAGCAGCAGCA						PASS	.			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SO:0001652	inframe_insertion	57477	exon6			.	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	84	32	0.381	NM_020717	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																			-|0.664;TGCTGCTGCTGT|0.336	0.336	strong		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	22	1	0	1	1	0	0	0	0	0	14296	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	7	50350758	104919802	11178	16286	351	2	39	68		6	4	109	N	T_G_C_-	9.025409e-06
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350778	50350778	+	Missense_Mutation	SNP	T	T	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgctgctgctgttgctgctTctgctgctgggctgcacgaa					rs112781654		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350778T>G	ENST00000289292.7	-	6	3647	c.3364A>C	c.(3364-3366)Aag>Cag	p.K1122Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.K1006Q|SHROOM4_ENST00000376020.2_Missense_Mutation_p.K1122Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1122	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tgttgctgcttctgctgctgG	0.582																																					p.K1122Q		Atlas-SNP	.											.	SHROOM4	171	.	0			c.A3364C						PASS	.						22	20	21					X																	50350778		2201	4295	6496	SO:0001583	missense	57477	exon6			GCTGCTTCTGCTG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3364A>C	X.37:g.50350778T>G	ENSP00000289292:p.Lys1122Gln	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	95	8	0.0842105	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	1.804	-0.476250	0.04414	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.09073	3.02;3.02;3.02	4.36	1.23	0.21249	.	0.932286	0.08995	N	0.863864	T	0.02304	0.0071	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	10	0.06099	T	0.92	.	5.8974	0.18947	0.0:0.1611:0.3673:0.4717	.	1122	Q9ULL8	SHRM4_HUMAN	Q	1122;1122;1006	ENSP00000289292:K1122Q;ENSP00000365188:K1122Q;ENSP00000421450:K1006Q	ENSP00000289292:K1122Q	K	-	1	0	SHROOM4	50367518	0.007000	0.16637	0.012000	0.15200	0.528000	0.34623	0.084000	0.14891	0.088000	0.17205	0.417000	0.27973	AAG	T|0.500;G|0.500	0.500	weak		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		G	50350778	T	G	50350778	3	3	22	1	0	0	0	0	1	0	0	0	14296	1792	62	5	1133	5	SHROOM4	23	50350778	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	20	50350778	104919782	11179	16287	352	2	39	68		6	4	109	N	T_G_C_-	9.025409e-06
SHROOM4	57477	hgsc.bcm.edu	37	chrX	50350782	50350782	+	Silent	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgctgttgctgcttctgCtgctgggctgcacgaaagag					rs113799046		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50350782C>T	ENST00000289292.7	-	6	3643	c.3360G>A	c.(3358-3360)caG>caA	p.Q1120Q	SHROOM4_ENST00000460112.3_Silent_p.Q1004Q|SHROOM4_ENST00000376020.2_Silent_p.Q1120Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1120	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					gctgcttctgctgctgGGCTG	0.587																																					p.Q1120Q		Atlas-SNP	.											.	SHROOM4	171	.	0			c.G3360A						PASS	.						23	21	22					X																	50350782		2201	4297	6498	SO:0001819	synonymous_variant	57477	exon6			CTTCTGCTGCTGG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3360G>A	X.37:g.50350782C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	97	7	0.0721649	NM_020717	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			C|0.500;T|0.500	0.500	weak		0.587	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50350782	C	T	50350782	2	4	22	1	0	0	0	0	0	0	0	1	14296	796	28	2		2	SHROOM4	23	50350782	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4	50350782	104919778	11180	16288	352	2	39	68		6	4	109	N	T_G_C_-	9.025409e-06
BMP15	9210	hgsc.bcm.edu	37	chrX	50659210	50659211	+	In_Frame_Ins	INS	-	-	TCT													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gagttcatggaaagggaatcINStcttctccggagaacccgac					rs531409392|rs371124071|rs111889793		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50659210_50659211insTCT	ENST00000252677.3	+	2	782_783	c.782_783insTCT	c.(781-786)tctctt>tcTCTtctt	p.263_264insL		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	263			L -> LL (no or minor deleterious effect detected). {ECO:0000269|PubMed:16464940, ECO:0000269|PubMed:16508750, ECO:0000269|PubMed:16645022, ECO:0000269|PubMed:19263482}.		female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAAAGGGAATCTCTTCTCCGGA	0.465														696	0.184371	0.3918	0.0591	3775	,	,		13145	0.0605		0.003	False		,,,				2504	0.0746				p.S261delinsSL		Pindel,Atlas-Indel	.											.	BMP15	62	.	0			c.782_783insTCT						PASS	.			1671,2050		330,777,234,485,303						2.3	0		dbSNP_132	65	35,6448		0,30,5,2327,1764	no	coding	BMP15	NM_005448.2		330,807,239,2812,2067	A1A1,A1R,A1,RR,R		0.5399,44.9073,16.7189				1706,8498				SO:0001652	inframe_insertion	9210	exon2			.	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.786_788dupTCT	X.37:g.50659214_50659216dupTCT	ENSP00000252677:p.Leu263_Leu263dup	Somatic	221	.	.		WXS	Illumina HiSeq	Phase_I	247	83	0.336	NM_005448	Q17RM6|Q5JST1|Q9UMS1	In_Frame_Ins	INS	ENST00000252677.3	37	CCDS14334.1																																																																																			.	.	none		0.465	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		TCT	50659211	-	TCT	50659210	7	5	22	1	0	1	1	0	0	0	0	0	1458	913	32	0	788	0	BMP15	23	50659210	In_Frame_Ins	INS	-	TCGA-G8-6324-01A-11D-2210-10	308428	50659210	104611350	11181	16289										
BMP15	9210	hgsc.bcm.edu	37	chrX	50659280	50659280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcttcctcaaaacatagCgggcctgaaaataaccagtg	8	12	2	1	rs17003221	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:50659280C>T	ENST00000252677.3	+	2	852	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	284					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAAAACATAGCGGGCCTGAAA	0.527													t|||	694	0.183841	0.3918	0.0591	3775	,	,		11819	0.0615		0.003	False		,,,				2504	0.0716				p.S284S		Atlas-SNP	.											.	BMP15	62	.	0			c.C852T						PASS	.	T		1730,2105		341,793,255,498,316	90	77	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	852	-2.8	0	X	dbSNP_123	81	37,6690		0,30,7,2398,1864	no	coding-synonymous	BMP15	NM_005448.2		341,823,262,2896,2180	TT,TC,T,CC,C		0.55,45.1108,16.7298		284/393	50659280	1767,8795	2203	4299	6502	SO:0001819	synonymous_variant	9210	exon2			ACATAGCGGGCCT	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.852C>T	X.37:g.50659280C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	145	62	0.427586	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	CCDS14334.1																																																																																			C|0.811;0|0.015	.	strong		0.527	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50659280	C	T	50659280	2	4	22	1	0	0	0	0	0	0	0	1	1458	767	27	1		1	BMP15	23	50659280	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	70	50659280	104611280	11182	16290										
IQSEC2	23096	hgsc.bcm.edu	37	chrX	53263764	53263764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcaggactgtacaggggCagtggggatgtgggctggtg	23	5	0	0	rs184087864		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:53263764C>T	ENST00000375368.5	-	14	4274	c.4074G>A	c.(4072-4074)ctG>ctA	p.L1358L	IQSEC2_ENST00000375365.2_3'UTR|IQSEC2_ENST00000396435.3_Silent_p.L1368L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1358	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGTACAGGGGCAGTGGGGATG	0.672													c|||	294	0.0778808	0.2133	0.0173	3775	,	,		4478	0.0		0.0	False		,,,				2504	0.0				p.L1368L		Atlas-SNP	.											.	IQSEC2	195	.	0			c.G4104A						PASS	.						10	11	10					X																	53263764		689	1580	2269	SO:0001819	synonymous_variant	23096	exon15			CAGGGGCAGTGGG	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.4074G>A	X.37:g.53263764C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	222	97	0.436937	NM_001111125	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37																																																																																				C|0.937;T|0.063	0.063	strong		0.672	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53263764	C	T	53263764	2	4	22	1	0	0	0	0	0	0	0	1	7818	697	25	2		2	IQSEC2	23	53263764	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2604484	53263764	102006796	11183	16291										
GNL3L	54552	hgsc.bcm.edu	37	chrX	54578725	54578725	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcccctatctcccaatgcagCgggaagatcagcttctatat	7	13	3	1	rs147602603	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:54578725C>T	ENST00000336470.4	+	13	1321	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	GNL3L_ENST00000360845.2_Splice_Site_p.S394S	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	394					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CCCAATGCAGCGGGAAGATCA	0.507													C|||	7	0.0018543	0.0053	0.0	3775	,	,		13898	0.0		0.0	False		,,,				2504	0.0				p.S394S		Atlas-SNP	.											.	GNL3L	73	.	0			c.C1182T						PASS	.	C	,	19,3816		0,17,2,1615,569	169	132	144		1182,1182	-7.2	0.4	X	dbSNP_134	144	0,6728		0,0,0,2428,1872	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	GNL3L	NM_001184819.1,NM_019067.5	,	0,17,2,4043,2441	TT,TC,T,CC,C		0.0,0.4954,0.1799	,	394/583,394/583	54578725	19,10544	2203	4300	6503	SO:0001630	splice_region_variant	54552	exon13			ATGCAGCGGGAAG	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1182-1C>T	X.37:g.54578725C>T		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	204	93	0.455882	NM_001184819		Silent	SNP	ENST00000336470.4	37	CCDS14360.1																																																																																			C|0.998;T|0.002	0.002	strong		0.507	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	Silent	T	54578725	C	T	54578725	5	4	22	1	0	0	0	0	0	0	1	0	6538	782	27	1	1228	1	GNL3L	23	54578725	Splice_Site	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1314961	54578725	100691835	11184	16292										
ITIH5L	347365	hgsc.bcm.edu	37	chrX	54783952	54783952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggtttaagagataataagAttttaggggtcttggacaag	12	3	1	2	rs150850201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:54783952A>G	ENST00000218436.6	-	8	2584	c.2555T>C	c.(2554-2556)aTc>aCc	p.I852T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	852	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGATAATAAGATTTTAGGGGT	0.507													A|||	43	0.0113907	0.0303	0.0043	3775	,	,		13466	0.0		0.0	False		,,,				2504	0.0				p.I852T		Atlas-SNP	.											.	.	.	.	0			c.T2555C						PASS	.	-	THR/ILE	166,3669		3,134,26,1495,545	74	71	72		2555	1.4	0	X	dbSNP_134	72	2,6726		0,1,1,2427,1871	yes	missense	ITIH5L	NM_198510.2	89	3,135,27,3922,2416	GG,GA,G,AA,A		0.0297,4.3286,1.5905	possibly-damaging	852/1314	54783952	168,10395	2203	4300	6503	SO:0001583	missense	347365	exon8			AATAAGATTTTAG	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2555T>C	X.37:g.54783952A>G	ENSP00000218436:p.Ile852Thr	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	227	115	0.506608	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	20	0.012055455093429777	8	0.01694915254237288	0	0.0	0	0.0	0	0.0	A	9.484	1.098979	0.20552	0.043286	2.97E-4	ENSG00000102313	ENST00000218436	T	0.02863	4.13	3.91	1.43	0.22495	.	14.783200	0.01116	U	0.005696	T	0.00608	0.0020	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.42032	-0.9475	9	0.72032	D	0.01	.	5.1877	0.15193	0.4176:0.0:0.5824:0.0	.	852	Q6UXX5	ITH5L_HUMAN	T	852	ENSP00000218436:I852T	ENSP00000218436:I852T	I	-	2	0	ITIH5L	54800677	0.003000	0.15002	0.007000	0.13788	0.008000	0.06430	0.571000	0.23669	0.275000	0.22094	0.380000	0.24917	ATC	A|0.982;G|0.018	0.018	strong		0.507	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		G	54783952	A	G	54783952	3	3	22	1	0	0	0	0	1	0	0	0	7908	333	12	2	1410	2	ITIH5L	23	54783952	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	205227	54783952	100486608	11185	16293										
ITIH5L	347365	hgsc.bcm.edu	37	chrX	54815065	54815065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cctctcgatcctggtggatgGgggtgaatccacctcacctg	12	13	2	1	rs140757238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:54815065G>C	ENST00000218436.6	-	5	663	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	212					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTGGTGGATGGGGGTGAATCC	0.587													G|||	52	0.0137748	0.0371	0.0043	3775	,	,		11601	0.0		0.0	False		,,,				2504	0.0				p.P212A		Atlas-SNP	.											.	.	.	.	0			c.C634G						PASS	.	G	ALA/PRO	212,3623		3,177,29,1452,542	65	44	51		634	1.7	0	X	dbSNP_134	51	3,6725		0,1,2,2427,1870	yes	missense	ITIH5L	NM_198510.2	27	3,178,31,3879,2412	CC,CG,C,GG,G		0.0446,5.528,2.0354	possibly-damaging	212/1314	54815065	215,10348	2203	4300	6503	SO:0001583	missense	347365	exon5			TGGATGGGGGTGA	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.634C>G	X.37:g.54815065G>C	ENSP00000218436:p.Pro212Ala	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	24	0.014466546112115732	11	0.023404255319148935	0	0.0	0	0.0	0	0.0	G	1.845	-0.466354	0.04476	0.05528	4.46E-4	ENSG00000102313	ENST00000218436	T	0.02177	4.41	3.88	1.7	0.24286	.	0.424226	0.19726	U	0.107470	T	0.00271	0.0008	L	0.39898	1.24	0.42463	P	0.007206000000000046	B	0.14805	0.011	B	0.19148	0.024	T	0.37888	-0.9686	9	0.14656	T	0.56	.	6.3923	0.21593	0.1233:0.0:0.6815:0.1952	.	212	Q6UXX5	ITH5L_HUMAN	A	212	ENSP00000218436:P212A	ENSP00000218436:P212A	P	-	1	0	ITIH5L	54831790	1.000000	0.71417	0.042000	0.18584	0.218000	0.24690	1.253000	0.32886	0.488000	0.27723	0.171000	0.16805	CCA	G|0.976;C|0.024	0.024	strong		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		C	54815065	G	C	54815065	3	2	22	1	0	0	0	0	1	0	0	0	7908	1232	43	4	3343	4	ITIH5L	23	54815065	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	31113	54815065	100455495	11186	16294										
MAGED2	10916	hgsc.bcm.edu	37	chrX	54837277	54837277	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagcatctggatggggaagaGgatggcagcagtgatcagag	17	5	2	3	rs12014977	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:54837277G>C	ENST00000375068.1	+	4	794	c.561G>C	c.(559-561)gaG>gaC	p.E187D	MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375053.2_Missense_Mutation_p.E187D|MAGED2_ENST00000218439.4_Missense_Mutation_p.E187D|MAGED2_ENST00000347546.4_Missense_Mutation_p.E169D|MAGED2_ENST00000396224.1_Missense_Mutation_p.E187D|MAGED2_ENST00000375060.1_Missense_Mutation_p.E149D|MAGED2_ENST00000375058.1_Missense_Mutation_p.E187D|MAGED2_ENST00000375062.4_Missense_Mutation_p.E149D			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	187			E -> D (in dbSNP:rs12014977).			membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGGGAAGAGGATGGCAGCA	0.552													G|||	91	0.024106	0.0666	0.0043	3775	,	,		4773	0.0		0.0	False		,,,				2504	0.0				p.E187D		Atlas-SNP	.											.	MAGED2	74	.	0			c.G561C						PASS	.	G	ASP/GLU,ASP/GLU,ASP/GLU	275,3560		8,225,34,1399,537	59	57	58		561,561,561	2.1	1	X	dbSNP_120	58	4,6724		0,4,0,2424,1872	yes	missense,missense,missense	MAGED2	NM_014599.4,NM_177433.1,NM_201222.1	45,45,45	8,229,34,3823,2409	CC,CG,C,GG,G		0.0595,7.1708,2.6413	probably-damaging,probably-damaging,probably-damaging	187/607,187/607,187/607	54837277	279,10284	2203	4300	6503	SO:0001583	missense	10916	exon4			GGAAGAGGATGGC	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.561G>C	X.37:g.54837277G>C	ENSP00000364209:p.Glu187Asp	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	196	105	0.535714	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	35	0.02109704641350211	20	0.0425531914893617	1	0.0028089887640449437	0	0.0	0	0.0	G	16.72	3.200742	0.58126	0.071708	5.95E-4	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.71698	1.26;1.26;3.95;-0.59;0.91;1.26;1.26;0.91;1.26	3.85	2.06	0.26882	.	0.000000	0.44097	D	0.000493	T	0.15998	0.0385	L	0.27053	0.805	0.38540	P	0.05080499999999999	D;P;D	0.61697	0.99;0.956;0.982	D;D;D	0.72982	0.979;0.931;0.952	T	0.56866	-0.7908	9	0.29301	T	0.29	.	7.4321	0.27134	0.2294:0.0:0.7706:0.0	rs12014977;rs52798808;rs12014977	169;149;187	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	D	187;187;131;169;149;187;187;149;187	ENSP00000364209:E187D;ENSP00000364193:E187D;ENSP00000336962:E131D;ENSP00000340290:E169D;ENSP00000364202:E149D;ENSP00000218439:E187D;ENSP00000364198:E187D;ENSP00000364200:E149D;ENSP00000379526:E187D	ENSP00000218439:E187D	E	+	3	2	MAGED2	54854002	0.885000	0.30320	1.000000	0.80357	0.993000	0.82548	-0.682000	0.05185	0.430000	0.26230	-0.192000	0.12808	GAG	G|0.973;C|0.027	0.027	strong		0.552	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		C	54837277	G	C	54837277	3	2	22	1	0	0	0	0	1	0	0	0	9184	991	35	4	571	4	MAGED2	23	54837277	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	22212	54837277	100433283	11187	16295										
APEX2	27301	hgsc.bcm.edu	37	chrX	55033238	55033238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccactgccctgtgggtgcAgtcttgagtgtgtcctctgt	13	11	2	1	rs6651872	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:55033238A>G	ENST00000374987.3	+	6	993	c.927A>G	c.(925-927)gcA>gcG	p.A309A	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	309					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTGTGGGTGCAGTCTTGAGTG	0.582								Other BER factors					A|||	33	0.00874172	0.025	0.0	3775	,	,		14084	0.0		0.0	False		,,,				2504	0.0				p.A309A		Atlas-SNP	.											.	APEX2	50	.	0			c.A927G						PASS	.	A		211,3624		3,173,32,1456,539	52	46	48		927	-1.7	0.8	X	dbSNP_116	48	1,6727		0,0,1,2428,1871	no	coding-synonymous	APEX2	NM_014481.2		3,173,33,3884,2410	GG,GA,G,AA,A		0.0149,5.502,2.007		309/519	55033238	212,10351	2203	4300	6503	SO:0001819	synonymous_variant	27301	exon6			GGGTGCAGTCTTG	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.927A>G	X.37:g.55033238A>G		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	257	140	0.544747	NM_014481	Q9Y5X7	Silent	SNP	ENST00000374987.3	37	CCDS14365.1																																																																																			A|0.975;0|0.005	.	strong		0.582	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			G	55033238	A	G	55033238	2	3	22	1	0	0	0	0	0	0	0	1	770	175	7	3		3	APEX2	23	55033238	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	195961	55033238	100237322	11188	16296										
ALAS2	212	hgsc.bcm.edu	37	chrX	55035751	55035751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcctggaggggcagccccacCgcagtccaagccagcagcag	13	16	0	0	rs6612251	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:55035751C>T	ENST00000330807.5	-	11	1763	c.1626G>A	c.(1624-1626)gcG>gcA	p.A542A	ALAS2_ENST00000396198.3_Silent_p.A529A|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Silent_p.A505A	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	542					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCAGCCCCACCGCAGTCCAAG	0.542													C|||	36	0.00953642	0.025	0.0	3775	,	,		12374	0.001		0.001	False		,,,				2504	0.001				p.A542A		Atlas-SNP	.											.	ALAS2	163	.	0			c.G1626A						PASS	.	C	,,	202,3631		3,164,32,1465,537	23	20	21		1626,1515,1587	-5.1	0.7	X	dbSNP_116	21	1,6722		0,0,1,2427,1868	no	coding-synonymous,coding-synonymous,coding-synonymous	ALAS2	NM_000032.4,NM_001037967.3,NM_001037968.3	,,	3,164,33,3892,2405	TT,TC,T,CC,C		0.0149,5.27,1.9231	,,	542/588,505/551,529/575	55035751	203,10353	2201	4296	6497	SO:0001819	synonymous_variant	212	exon11			CCCCACCGCAGTC		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1626G>A	X.37:g.55035751C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	256	130	0.507812	NM_000032	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	CCDS14366.1																																																																																			C|0.974;0|0.006	.	strong		0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		T	55035751	C	T	55035751	2	4	22	1	0	0	0	0	0	0	0	1	485	639	23	1		1	ALAS2	23	55035751	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2513	55035751	100234809	11189	16297										
FAM123B	139285	hgsc.bcm.edu	37	chrX	63410110	63410110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggtgtgagggacgagctagTtgaggcccagattccccagg	16	9	0	3	rs61730681	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:63410110T>C	ENST00000330258.3	-	2	3329	c.3057A>G	c.(3055-3057)caA>caG	p.Q1019Q	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1019	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GACGAGCTAGTTGAGGCCCAG	0.567													C|||	1022	0.270728	0.7012	0.0937	3775	,	,		13676	0.003		0.0119	False		,,,				2504	0.0153				p.Q1019Q		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A3057G						PASS	.	C		2803,865		883,571,466,95,104	54	61	58		3057	1.9	0.7	X	dbSNP_129	58	101,6502		0,78,23,2314,1796	no	coding-synonymous	FAM123B	NM_152424.3		883,649,489,2409,1900	CC,CT,C,TT,T		1.5296,23.5823,28.2738		1019/1136	63410110	2904,7367	2119	4211	6330	SO:0001819	synonymous_variant	139285	exon2			AGCTAGTTGAGGC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3057A>G	X.37:g.63410110T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_152424	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																			T|0.758;C|0.242	0.242	strong		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		C	63410110	T	C	63410110	2	2	22	1	0	0	0	0	0	0	0	1	5423	1722	60	2		2	FAM123B	23	63410110	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8374359	63410110	91860450	11190	16298										
FAM123B	139285	hgsc.bcm.edu	37	chrX	63412690	63412690	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttggcttgggcatagagggAaacttctcagccacagcttt	11	9	1	1	rs34677493	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:63412690A>C	ENST00000330258.3	-	2	749	c.477T>G	c.(475-477)ttT>ttG	p.F159L	AMER1_ENST00000374869.3_Missense_Mutation_p.F159L|AMER1_ENST00000403336.1_Missense_Mutation_p.F159L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	159			F -> L (in dbSNP:rs34677493).		adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCATAGAGGGAAACTTCTCAG	0.532													A|||	528	0.139868	0.3722	0.0288	3775	,	,		12073	0.0		0.004	False		,,,				2504	0.0123				p.F159L		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.T477G						PASS	.	A	LEU/PHE	1683,2152		332,780,239,520,332	42	43	43		477	0.9	0	X	dbSNP_126	43	42,6686		0,35,7,2393,1865	yes	missense	FAM123B	NM_152424.3	22	332,815,246,2913,2197	CC,CA,C,AA,A		0.6243,43.8853,16.3306	benign	159/1136	63412690	1725,8838	2203	4300	6503	SO:0001583	missense	139285	exon2			AGAGGGAAACTTC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.477T>G	X.37:g.63412690A>C	ENSP00000329117:p.Phe159Leu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	193	0.11633514165159735	121	0.32180851063829785	7	0.019886363636363636	0	0.0	1	0.0013227513227513227	A	0.031	-1.334923	0.01287	0.438853	0.006243	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.16457	2.34;2.34;2.34	4.93	0.952	0.19584	.	0.964567	0.08637	N	0.916136	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.48410	-0.9038	9	0.27082	T	0.32	0.9455	0.4629	0.00519	0.2626:0.1486:0.1604:0.4284	rs34677493	159	Q5JTC6	F123B_HUMAN	L	159	ENSP00000364003:F159L;ENSP00000329117:F159L;ENSP00000384722:F159L	ENSP00000329117:F159L	F	-	3	2	FAM123B	63329415	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.359000	0.07632	0.182000	0.20032	0.486000	0.48141	TTT	0|0.013;C|0.188	0.188	strong		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		C	63412690	A	C	63412690	3	2	22	1	0	0	0	0	1	0	0	0	5423	243	9	5	2934	5	FAM123B	23	63412690	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2580	63412690	91857870	11191	16299										
ZC4H2	55906	hgsc.bcm.edu	37	chrX	64139051	64139051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggggggctcctgaggttcTgtctgccattctgctttctg	13	10	4	1	rs6524946	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:64139051T>C	ENST00000374839.3	-	4	538	c.432A>G	c.(430-432)acA>acG	p.T144T	ZC4H2_ENST00000545618.1_Silent_p.T139T|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.T121T|ZC4H2_ENST00000447788.2_Intron	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	144					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTGAGGTTCTGTCTGCCATT	0.547													C|||	354	0.0937748	0.2549	0.0245	3775	,	,		13414	0.0		0.0	False		,,,				2504	0.0				p.T144T		Atlas-SNP	.											.	ZC4H2	64	.	0			c.A432G						PASS	.	C	,,	1115,2720		134,678,169,820,402	60	51	54		363,,432	-4.2	0.3	X	dbSNP_116	54	4,6724		0,2,2,2426,1870	no	coding-synonymous,intron,coding-synonymous	ZC4H2	NM_001178032.2,NM_001178033.2,NM_018684.3	,,	134,680,171,3246,2272	CC,CT,C,TT,T		0.0595,29.0743,10.5936	,,	121/202,,144/225	64139051	1119,9444	2203	4300	6503	SO:0001819	synonymous_variant	55906	exon4			AGGTTCTGTCTGC	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.432A>G	X.37:g.64139051T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	129	62	0.48062	NM_018684	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	CCDS14380.1																																																																																			T|0.894;C|0.106	0.106	strong		0.547	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		C	64139051	T	C	64139051	2	2	22	1	0	0	0	0	0	0	0	1	17575	1567	55	3		3	ZC4H2	23	64139051	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	726361	64139051	91131509	11192	16300										
HEPH	9843	hgsc.bcm.edu	37	chrX	65427040	65427040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctttggattcctctagttaTggttacattttcctgagcaa	7	8	2	1	rs61746100|rs806607	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:65427040T>C	ENST00000343002.2	+	13	2959	c.2295T>C	c.(2293-2295)taT>taC	p.Y765Y	HEPH_ENST00000441993.2_Silent_p.Y768Y|HEPH_ENST00000336279.5_Silent_p.Y498Y|HEPH_ENST00000519389.1_Silent_p.Y819Y|HEPH_ENST00000374727.3_Silent_p.Y768Y|HEPH_ENST00000419594.1_Silent_p.Y576Y			Q9BQS7	HEPH_HUMAN	hephaestin	765	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTCTAGTTATGGTTACATTT	0.448													C|||	1320	0.349669	0.7141	0.1988	3775	,	,		9954	0.001		0.171	False		,,,				2504	0.0665				p.Y819Y		Atlas-SNP	.											.	HEPH	224	.	0			c.T2457C						PASS	.	C	,,	3276,559		1190,402,494,40,77	114	98	103		2304,1494,2457	3.6	1	X	dbSNP_86	103	1509,5219		122,788,477,1518,1395	no	coding-synonymous,coding-synonymous,coding-synonymous	HEPH	NM_001130860.2,NM_014799.2,NM_138737.3	,,	1312,1190,971,1558,1472	CC,CT,C,TT,T		22.4287,14.5763,45.2996	,,	768/1161,498/892,819/1213	65427040	4785,5778	2203	4300	6503	SO:0001819	synonymous_variant	9843	exon14			TAGTTATGGTTAC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2295T>C	X.37:g.65427040T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	122	122	1	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																				0|0.020;C|0.435	0.435	strong		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		C	65427040	T	C	65427040	2	2	22	1	0	0	0	0	0	0	0	1	7054	1471	51	2		2	HEPH	23	65427040	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1287989	65427040	89843520	11193	16301										
HEPH	9843	hgsc.bcm.edu	37	chrX	65427124	65427124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggaatacactgatggtacAttcaggatccctcggccaag	11	10	1	1	rs809363	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:65427124A>G	ENST00000343002.2	+	13	3043	c.2379A>G	c.(2377-2379)acA>acG	p.T793T	HEPH_ENST00000441993.2_Silent_p.T796T|HEPH_ENST00000336279.5_Silent_p.T526T|HEPH_ENST00000519389.1_Silent_p.T847T|HEPH_ENST00000374727.3_Silent_p.T796T|HEPH_ENST00000419594.1_Silent_p.T604T			Q9BQS7	HEPH_HUMAN	hephaestin	793	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGATGGTACATTCAGGATCC	0.473													A|||	928	0.245828	0.4395	0.1744	3775	,	,		11159	0.001		0.159	False		,,,				2504	0.0665				p.T847T		Atlas-SNP	.											.	HEPH	224	.	0			c.A2541G						PASS	.	A	,,	1958,1877		424,811,299,397,272	121	99	106		2388,1578,2541	0.6	1	X	dbSNP_86	106	1431,5297		107,764,453,1557,1419	no	coding-synonymous,coding-synonymous,coding-synonymous	HEPH	NM_001130860.2,NM_014799.2,NM_138737.3	,,	531,1575,752,1954,1691	GG,GA,G,AA,A		21.2693,48.9439,32.0837	,,	796/1161,526/892,847/1213	65427124	3389,7174	2203	4300	6503	SO:0001819	synonymous_variant	9843	exon14			TGGTACATTCAGG	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2379A>G	X.37:g.65427124A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																				A|0.687;0|0.002	.	strong		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		G	65427124	A	G	65427124	2	3	22	1	0	0	0	0	0	0	0	1	7054	204	8	2		2	HEPH	23	65427124	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	84	65427124	89843436	11194	16302										
AR	367	hgsc.bcm.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc					rs200185441		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																												p.Q58L		Atlas-SNP	.											.	AR	249	.	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.A173T	GRCh37	CM033749	AR	M	rs5902610	PASS	.						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCTGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	6	0.0857143	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	.	.	weak		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765161	A	T	66765161	3	4	22	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1338037	66765161	88505399	11195	16303	353	2								
AR	367	hgsc.bcm.edu	37	chrX	66765164	66765164	+	Missense_Mutation	SNP	A	A	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtttgctgctgctgcagcAgcagcagcagcagcagcagc							TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L|AR_ENST00000504326.1_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q59L		Atlas-SNP	.											.	AR	249	.	0			c.A176T						PASS	.						7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	X.37:g.66765164A>T	ENSP00000363822:p.Gln59Leu	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG	.	.	none		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	22	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	3	66765164	88505396	11196	16304	353	2								
AR	367	hgsc.bcm.edu	37	chrX	66765627	66765627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcagcgggagagcgagggaGgcctcgggggctcccacttc	18	12	0	1	rs6152	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:66765627G>A	ENST00000374690.3	+	1	1163	c.639G>A	c.(637-639)gaG>gaA	p.E213E	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.E213E|AR_ENST00000504326.1_Silent_p.E213E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	211	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GAGCGAGGGAGGCCTCGGGGG	0.572									Androgen Insensitivity Syndrome				g|||	901	0.238675	0.4932	0.1023	3775	,	,		13539	0.002		0.1083	False		,,,				2504	0.0685				p.E213E		Atlas-SNP	.											.	AR	249	.	0			c.G639A	GRCh37	CM051843	AR	M	rs6152	PASS	.			2312,1523		588,793,343,251,228	34	34	34	http://omim.org/entry/300710	639	3	1	X	dbSNP_52	34	1057,5671		56,625,320,1747,1552	no	coding-synonymous	AR	NM_000044.3		644,1418,663,1998,1780	AA,AG,A,GG,G		15.7105,39.7132,31.8943		213/921	66765627	3369,7194	2203	4300	6503	SO:0001819	synonymous_variant	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	GAGGGAGGCCTCG	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.639G>A	X.37:g.66765627G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	111	111	1	NM_000044	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																			G|0.700;A|0.300	0.300	strong		0.572	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66765627	G	A	66765627	2	1	22	1	0	0	0	0	0	0	0	1	836	991	35	2		2	AR	23	66765627	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	463	66765627	88504933	11197	16305										
STARD8	9754	hgsc.bcm.edu	37	chrX	67938392	67938392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgaggctgaggctgcggggCccctggctggactccaggca	17	12	0	2	rs58255923	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:67938392C>T	ENST00000252336.6	+	5	1768	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	STARD8_ENST00000374597.3_Missense_Mutation_p.P466S|STARD8_ENST00000374599.3_Missense_Mutation_p.P546S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	466				P -> S (in Ref. 1; BAA11506). {ECO:0000305}.	regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCTGCGGGGCCCCTGGCTGG	0.587													C|||	148	0.0392053	0.0991	0.0173	3775	,	,		10820	0.0		0.005	False		,,,				2504	0.0				p.P546S		Atlas-SNP	.											.	STARD8	282	.	0			c.C1636T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO	468,3367		23,336,86,1273,485	46	39	41		1636,1396,1396	1.8	0	X	dbSNP_129	41	22,6706		0,15,7,2413,1865	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	74,74,74	23,351,93,3686,2350	TT,TC,T,CC,C		0.327,12.2034,4.6388	benign,benign,benign	546/1104,466/1024,466/1024	67938392	490,10073	2203	4300	6503	SO:0001583	missense	9754	exon6			GCGGGGCCCCTGG	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1396C>T	X.37:g.67938392C>T	ENSP00000252336:p.Pro466Ser	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	147	75	0.510204	NM_001142503	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	48	0.028933092224231464	28	0.059322033898305086	5	0.014124293785310734	0	0.0	1	0.0013192612137203166	C	1.597	-0.527487	0.04141	0.122034	0.00327	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.06218	3.33;3.33;3.33	4.26	1.76	0.24704	.	0.487629	0.17593	N	0.168718	T	0.00039	0.0001	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39722	-0.9600	9	0.06494	T	0.89	.	3.9538	0.09380	0.0:0.1325:0.2824:0.5851	rs58255923;rs61736965	546;466	Q92502-2;Q92502	.;STAR8_HUMAN	S	466;546;466	ENSP00000252336:P466S;ENSP00000363727:P546S;ENSP00000363725:P466S	ENSP00000252336:P466S	P	+	1	0	STARD8	67855117	0.000000	0.05858	0.002000	0.10522	0.932000	0.56968	0.017000	0.13399	0.106000	0.17784	-0.340000	0.08031	CCC	C|0.955;T|0.045	0.045	strong		0.587	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		T	67938392	C	T	67938392	3	4	22	1	0	0	0	0	1	0	0	0	15262	739	26	2	1658	2	STARD8	23	67938392	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1172765	67938392	87332168	11198	16306										
PJA1	64219	hgsc.bcm.edu	37	chrX	68381912	68381912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcagagtctcccagctttcGccactggaggacagggtttg	14	11	1	1	rs3761646	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:68381912G>A	ENST00000361478.1	-	2	1547	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	PJA1_ENST00000374584.3_Silent_p.G202G|PJA1_ENST00000374571.4_Silent_p.G335G|PJA1_ENST00000374583.1_Silent_p.G390G|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	390					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCCAGCTTTCGCCACTGGAGG	0.577													g|||	516	0.136689	0.053	0.2205	3775	,	,		12786	0.0774		0.1173	False		,,,				2504	0.0992				p.G390G		Atlas-SNP	.											.	PJA1	106	.	0			c.C1170T						PASS	.		,,	405,3430		20,295,70,1317,501	34	34	34		1005,606,1170	-6.7	0	X	dbSNP_107	34	1134,5593		78,681,297,1669,1574	no	coding-synonymous,coding-synonymous,coding-synonymous	PJA1	NM_001032396.2,NM_022368.4,NM_145119.3	,,	98,976,367,2986,2075	AA,AG,A,GG,G		16.8574,10.5606,14.5711	,,	335/589,202/456,390/644	68381912	1539,9023	2203	4299	6502	SO:0001819	synonymous_variant	64219	exon2			GCTTTCGCCACTG	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1170C>T	X.37:g.68381912G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	101	49	0.485149	NM_145119	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	CCDS14393.1																																																																																			G|0.863;0|0.003	.	strong		0.577	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		A	68381912	G	A	68381912	2	1	22	1	0	0	0	0	0	0	0	1	11961	1074	38	1		1	PJA1	23	68381912	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	443520	68381912	86888648	11199	16307										
FAM155B	27112	hgsc.bcm.edu	37	chrX	68725640	68725640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgcggccccctgactcccTttcccgtgccccggccgagt	10	20	1	1	rs1171942	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:68725640T>C	ENST00000252338.4	+	1	557	c.515T>C	c.(514-516)cTt>cCt	p.L172P	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	172			L -> P (in dbSNP:rs1171942). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCTGACTCCCTTTCCCGTGCC	0.592													c|||	2428	0.643179	0.6664	0.5029	3775	,	,		7543	0.6111		0.2336	False		,,,				2504	0.3548				p.L172P		Atlas-SNP	.											.	FAM155B	44	.	0			c.T515C						PASS	.		PRO/LEU	3216,615		1162,411,481,58,88	24	30	28		515	1.7	0.9	X	dbSNP_87	28	2199,4526		270,1044,615,1113,1256	yes	missense	FAM155B	NM_015686.2	98	1432,1455,1096,1171,1344	CC,CT,C,TT,T		32.6989,16.0532,48.7022	benign	172/473	68725640	5415,5141	2200	4298	6498	SO:0001583	missense	27112	exon1			ACTCCCTTTCCCG	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.515T>C	X.37:g.68725640T>C	ENSP00000252338:p.Leu172Pro	Somatic	261	1	0.00383142		WXS	Illumina HiSeq	Phase_I	270	269	0.996296	NM_015686	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	1017	0.6130198915009042	214	0.722972972972973	115	0.4637096774193548	234	0.6964285714285714	127	0.19538461538461538	C	0.003	-2.570916	0.00133	0.839468	0.326989	ENSG00000130054	ENST00000252338	T	0.42131	0.98	4.7	1.72	0.24424	.	0.680336	0.13754	N	0.365088	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	9	0.22109	T	0.4	2.301	4.9816	0.14168	0.0:0.5568:0.1525:0.2907	rs1171942;rs16989158	172	O75949-2	.	P	172	ENSP00000252338:L172P	ENSP00000252338:L172P	L	+	2	0	FAM155B	68642365	0.067000	0.21026	0.877000	0.34402	0.392000	0.30506	1.452000	0.35156	-0.005000	0.14395	-1.324000	0.01287	CTT	T|0.456;C|0.544	0.544	strong		0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		C	68725640	T	C	68725640	3	2	22	1	0	0	0	0	1	0	0	0	5466	1609	56	3	517	3	FAM155B	23	68725640	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	343728	68725640	86544920	11200	16308										
AWAT1	158833	hgsc.bcm.edu	37	chrX	69455671	69455671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggactggaagaccccagagcGaggtaagactcacagaccta	12	11	1	4	rs61995694	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69455671G>A	ENST00000374521.3	+	2	223	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	61					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACCCCAGAGCGAGGTAAGACT	0.512													g|||	113	0.0299338	0.0825	0.0058	3775	,	,		15173	0.0		0.0	False		,,,				2504	0.0				p.R61Q		Atlas-SNP	.											.	AWAT1	74	.	0			c.G182A						PASS	.		GLN/ARG	342,3493		13,270,46,1349,525	184	144	158		182	1.1	0.6	X	dbSNP_129	158	2,6726		0,2,0,2426,1872	yes	missense	AWAT1	NM_001013579.2	43	13,272,46,3775,2397	AA,AG,A,GG,G		0.0297,8.9179,3.2567	benign	61/329	69455671	344,10219	2203	4300	6503	SO:0001583	missense	158833	exon2			CAGAGCGAGGTAA	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.182G>A	X.37:g.69455671G>A	ENSP00000363645:p.Arg61Gln	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	49	0.411765	NM_001013579	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	46	0.027727546714888487	32	0.06808510638297872	3	0.008287292817679558	0	0.0	0	0.0	g	2.423	-0.332574	0.05314	0.089179	2.97E-4	ENSG00000204195	ENST00000374521	T	0.17528	2.27	5.03	1.06	0.20224	.	0.715401	0.13082	N	0.415230	T	0.00241	0.0007	N	0.04162	-0.26	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.09377	0.004	T	0.42749	-0.9433	9	0.02654	T	1	-0.016	7.6926	0.28577	0.6396:0.0:0.3604:0.0	rs61995694	61	Q58HT5	AWAT1_HUMAN	Q	61	ENSP00000363645:R61Q	ENSP00000363645:R61Q	R	+	2	0	AWAT1	69372396	0.002000	0.14202	0.579000	0.28588	0.849000	0.48306	0.034000	0.13776	-0.029000	0.13827	-0.372000	0.07161	CGA	G|0.967;A|0.033	0.033	strong		0.512	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		A	69455671	G	A	69455671	3	1	22	1	0	0	0	0	1	0	0	0	1234	1058	37	1	188	1	AWAT1	23	69455671	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	730031	69455671	85814889	11201	16309										
P2RY4	5030	hgsc.bcm.edu	37	chrX	69478749	69478749	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acagctatggtgcggagagaGcggaggcgagaagacgactg	18	7	0	3	rs3829708	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69478749G>T	ENST00000374519.2	-	1	905	c.726C>A	c.(724-726)cgC>cgA	p.R242R		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	242					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TGCGGAGAGAGCGGAGGCGAG	0.577													G|||	654	0.173245	0.1089	0.0749	3775	,	,		13522	0.2808		0.0388	False		,,,				2504	0.1391				p.R242R		Atlas-SNP	.											.	P2RY4	39	.	0			c.C726A						PASS	.	G		445,3390		24,334,63,1274,508	74	64	67		726	-2.5	0.9	X	dbSNP_107	67	394,6334		7,256,124,2165,1748	no	coding-synonymous	P2RY4	NM_002565.3		31,590,187,3439,2256	TT,TG,T,GG,G		5.8561,11.6037,7.9428		242/366	69478749	839,9724	2203	4300	6503	SO:0001819	synonymous_variant	5030	exon1			GAGAGAGCGGAGG	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.726C>A	X.37:g.69478749G>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	107	43	0.401869	NM_002565	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	CCDS14398.1																																																																																			G|0.866;0|0.003	.	strong		0.577	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		T	69478749	G	T	69478749	2	4	22	1	0	0	0	0	0	0	0	1	11353	958	34	4		4	P2RY4	23	69478749	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	23078	69478749	85791811	11202	16310										
ARR3	407	hgsc.bcm.edu	37	chrX	69489530	69489530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agggtgtttaagaagaccagCtccaatgggaaggtgagaga	15	5	0	4	rs3818862	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69489530C>T	ENST00000307959.8	+	3	78	c.27C>T	c.(25-27)agC>agT	p.S9S	ARR3_ENST00000374495.3_Silent_p.S9S	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	9					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGAAGACCAGCTCCAATGGGA	0.517													C|||	713	0.188874	0.1089	0.0778	3775	,	,		14008	0.3046		0.0437	False		,,,				2504	0.1677				p.S9S		Atlas-SNP	.											.	ARR3	41	.	0			c.C27T						PASS	.	C		448,3387		24,337,63,1271,508	53	51	52		27	2.7	1	X	dbSNP_107	52	395,6333		7,258,123,2163,1749	no	coding-synonymous	ARR3	NM_004312.2		31,595,186,3434,2257	TT,TC,T,CC,C		5.871,11.6819,7.9807		9/389	69489530	843,9720	2203	4300	6503	SO:0001819	synonymous_variant	407	exon3			GACCAGCTCCAAT		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.27C>T	X.37:g.69489530C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	141	67	0.475177	NM_004312	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	CCDS14399.1																																																																																			0|0.004;T|0.119	0.119	strong		0.517	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		T	69489530	C	T	69489530	2	4	22	1	0	0	0	0	0	0	0	1	979	796	28	2		2	ARR3	23	69489530	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	10781	69489530	85781030	11203	16311										
KIF4A	24137	hgsc.bcm.edu	37	chrX	69550080	69550080	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gactccaatctagaggaaacAttaaatacccttcgctatgc	6	11	1	1	rs5936873	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69550080A>G	ENST00000374403.3	+	9	1051	c.969A>G	c.(967-969)acA>acG	p.T323T	KIF4A_ENST00000374388.3_Silent_p.T323T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	323	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T323T(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAGAGGAAACATTAAATACCC	0.373													A|||	321	0.0850331	0.0439	0.0086	3775	,	,		13400	0.2024		0.007	False		,,,				2504	0.047				p.T323T		Atlas-SNP	.											.	KIF4A	118	.	1	Substitution - coding silent(1)	stomach(1)	c.A969G						PASS	.	A		185,3650		4,156,21,1472,550	132	127	129		969	-3.2	0.9	X	dbSNP_114	129	78,6650		0,54,24,2374,1848	no	coding-synonymous	KIF4A	NM_012310.4		4,210,45,3846,2398	GG,GA,G,AA,A		1.1593,4.824,2.4898		323/1233	69550080	263,10300	2203	4300	6503	SO:0001819	synonymous_variant	24137	exon9			GGAAACATTAAAT	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.969A>G	X.37:g.69550080A>G		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	265	134	0.50566	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																			A|0.938;0|0.003	.	strong		0.373	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		G	69550080	A	G	69550080	2	3	22	1	0	0	0	0	0	0	0	1	8303	204	8	2		2	KIF4A	23	69550080	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60550	69550080	85720480	11204	16312										
KIF4A	24137	hgsc.bcm.edu	37	chrX	69561780	69561780	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgttggagaggatcatttTggtaagcccccaagaataaa	11	6	1	2	rs1199457	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69561780T>G	ENST00000374403.3	+	11	1347	c.1265T>G	c.(1264-1266)tTg>tGg	p.L422W	KIF4A_ENST00000374388.3_Splice_Site_p.L422W	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	422			L -> W (in dbSNP:rs1199457). {ECO:0000269|PubMed:10978527, ECO:0000269|PubMed:15489334}.		anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGGATCATTTTGGTAAGCCCC	0.403													T|||	451	0.11947	0.2799	0.0375	3775	,	,		12134	0.0		0.0398	False		,,,				2504	0.0153				p.L422W		Atlas-SNP	.											.	KIF4A	118	.	0			c.T1265G						PASS	.	T	TRP/LEU	1333,2502		212,708,201,712,370	95	95	95		1265	4.8	1	X	dbSNP_87	95	323,6405		3,227,90,2198,1782	yes	missense-near-splice	KIF4A	NM_012310.4	61	215,935,291,2910,2152	GG,GT,G,TT,T		4.8008,34.7588,15.6774	possibly-damaging	422/1233	69561780	1656,8907	2203	4300	6503	SO:0001630	splice_region_variant	24137	exon11			TCATTTTGGTAAG	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1266+1T>G	X.37:g.69561780T>G		Somatic	344	0	0		WXS	Illumina HiSeq	Phase_I	331	175	0.528701	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	160	0.09644364074743822	73	0.17464114832535885	13	0.03672316384180791	0	0.0	20	0.0273224043715847	T	18.31	3.595877	0.66332	0.347588	0.048008	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.52983	0.64;0.64	4.77	4.77	0.60923	.	0.151044	0.31167	N	0.008127	T	0.00012	0.0000	L	0.27053	0.805	0.20307	P	0.9999110836	D;D	0.67145	0.995;0.996	P;D	0.63703	0.844;0.917	T	0.31861	-0.9928	9	0.72032	D	0.01	.	12.2319	0.54492	0.0:0.0:0.0:1.0	rs1199457;rs52827837;rs1199457	422;422	O95239;O95239-2	KIF4A_HUMAN;.	W	422	ENSP00000363509:L422W;ENSP00000363524:L422W	ENSP00000363509:L422W	L	+	2	0	KIF4A	69478505	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.976000	0.56867	1.765000	0.52091	0.345000	0.21793	TTG	T|0.841;0|0.015	.	strong		0.403	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	Missense_Mutation	G	69561780	T	G	69561780	5	3	22	1	0	0	0	0	0	0	1	0	8303	1826	63	5	1303	5	KIF4A	23	69561780	Splice_Site	SNP	T	TCGA-G8-6324-01A-11D-2210-10	11700	69561780	85708780	11205	16313										
KIF4A	24137	hgsc.bcm.edu	37	chrX	69573639	69573639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aatgacagccaactgcagccCattcagtaccaataccaggt	7	13	1	1	rs1199429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69573639C>T	ENST00000374403.3	+	15	1738	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	KIF4A_ENST00000374388.3_Silent_p.P552P	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	552					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AACTGCAGCCCATTCAGTACC	0.428													C|||	450	0.119205	0.2791	0.0375	3775	,	,		13843	0.0		0.0398	False		,,,				2504	0.0153				p.P552P		Atlas-SNP	.											.	KIF4A	118	.	0			c.C1656T						PASS	.	C		1337,2496		210,717,200,705,369	46	39	41		1656	-0.2	1	X	dbSNP_87	41	323,6400		4,225,90,2199,1777	no	coding-synonymous	KIF4A	NM_012310.4		214,942,290,2904,2146	TT,TC,T,CC,C		4.8044,34.8813,15.7257		552/1233	69573639	1660,8896	2201	4295	6496	SO:0001819	synonymous_variant	24137	exon15			GCAGCCCATTCAG	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1656C>T	X.37:g.69573639C>T		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	250	109	0.436	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																			0|0.003;T|0.145	0.145	strong		0.428	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69573639	C	T	69573639	2	4	22	1	0	0	0	0	0	0	0	1	8303	581	21	2		2	KIF4A	23	69573639	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	11859	69573639	85696921	11206	16314										
TEX11	56159	hgsc.bcm.edu	37	chrX	69772000	69772000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggctaatgtggctcagagcAtcttcaaaatagccccaaac	8	12	3	1	rs16991177	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69772000A>G	ENST00000395889.2	-	29	2696	c.2541T>C	c.(2539-2541)gaT>gaC	p.D847D	TEX11_ENST00000374333.2_Silent_p.D832D|TEX11_ENST00000374320.2_Silent_p.D522D|TEX11_ENST00000344304.3_Silent_p.D847D	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	847					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCTCAGAGCATCTTCAAAAT	0.398													.|||	505	0.133775	0.0953	0.1859	3775	,	,		13175	0.0942		0.0278	False		,,,				2504	0.1299				p.D847D		Atlas-SNP	.											.	TEX11	132	.	0			c.T2541C						PASS	.	A	,	396,3439		16,296,68,1320,503	84	73	77		2541,2496	2.5	0.7	X	dbSNP_123	77	287,6441		5,194,83,2229,1789	no	coding-synonymous,coding-synonymous	TEX11	NM_001003811.1,NM_031276.2	,	21,490,151,3549,2292	GG,GA,G,AA,A		4.2658,10.3259,6.466	,	847/941,832/926	69772000	683,9880	2203	4300	6503	SO:0001819	synonymous_variant	56159	exon29			CAGAGCATCTTCA	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2541T>C	X.37:g.69772000A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	203	90	0.44335	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																			A|0.896;0|0.017	.	strong		0.398	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			G	69772000	A	G	69772000	2	3	22	1	0	0	0	0	0	0	0	1	15771	214	8	2		2	TEX11	23	69772000	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	198361	69772000	85498560	11207	16315										
TEX11	56159	hgsc.bcm.edu	37	chrX	69890301	69890301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtgaagtccagatccatttCatcagttgaataaaacctca	7	9	3	3	rs4844247	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:69890301C>T	ENST00000395889.2	-	17	1506	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	TEX11_ENST00000374333.2_Missense_Mutation_p.E436K|TEX11_ENST00000374320.2_Missense_Mutation_p.E126K|TEX11_ENST00000344304.3_Missense_Mutation_p.E451K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	451			E -> K (in dbSNP:rs4844247). {ECO:0000269|PubMed:15489334}.		chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGATCCATTTCATCAGTTGAA	0.363													C|||	505	0.133775	0.0908	0.1859	3775	,	,		15241	0.125		0.0249	False		,,,				2504	0.1074				p.E451K		Atlas-SNP	.											.	TEX11	132	.	0			c.G1351A						PASS	.	C	LYS/GLU,LYS/GLU	409,3426		19,302,69,1311,502	115	96	102		1351,1306	-0.5	0	X	dbSNP_111	102	263,6465		4,176,79,2248,1793	yes	missense,missense	TEX11	NM_001003811.1,NM_031276.2	56,56	23,478,148,3559,2295	TT,TC,T,CC,C		3.909,10.6649,6.3618	benign,benign	451/941,436/926	69890301	672,9891	2203	4300	6503	SO:0001583	missense	56159	exon17			CCATTTCATCAGT	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1351G>A	X.37:g.69890301C>T	ENSP00000379226:p.Glu451Lys	Somatic	350	0	0		WXS	Illumina HiSeq	Phase_I	319	139	0.435737	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	210	0.12658227848101267	26	0.05803571428571429	42	0.13043478260869565	45	0.08964143426294821	14	0.01876675603217158	C	1.430	-0.570586	0.03910	0.106649	0.03909	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	3.77	-0.491	0.12045	Tetratricopeptide-like helical (1);	0.364588	0.25698	N	0.028893	T	0.00552	0.0018	N	0.08118	0	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.03095	-1.1073	8	.	.	.	1.2168	6.1459	0.20285	0.0:0.1736:0.3448:0.4816	rs4844247;rs17857083;rs52815445;rs4844247	436;451	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	K	436;451;126;451	ENSP00000363453:E436K;ENSP00000379226:E451K;ENSP00000363440:E126K;ENSP00000340995:E451K	.	E	-	1	0	TEX11	69807026	0.261000	0.24063	0.000000	0.03702	0.009000	0.06853	1.102000	0.31050	-0.527000	0.06374	-0.558000	0.04189	GAA	C|0.911;T|0.089	0.089	strong		0.363	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			T	69890301	C	T	69890301	3	4	22	1	0	0	0	0	1	0	0	0	15771	835	29	2	1531	2	TEX11	23	69890301	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	118301	69890301	85380259	11208	16316										
TEX11	56159	hgsc.bcm.edu	37	chrX	70073159	70073159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttccagcatccaaccattctTttcctattctcatattcatc	1	14	3	0	rs6525433	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70073159T>C	ENST00000395889.2	-	7	544	c.389A>G	c.(388-390)aAa>aGa	p.K130R	TEX11_ENST00000374333.2_Missense_Mutation_p.K115R|TEX11_ENST00000344304.3_Missense_Mutation_p.K130R	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	130			K -> R (in dbSNP:rs6525433).		chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CAACCATTCTTTTCCTATTCT	0.343													C|||	1007	0.266755	0.3139	0.1628	3775	,	,		12931	0.2351		0.004	False		,,,				2504	0.2434				p.K130R		Atlas-SNP	.											.	TEX11	132	.	0			c.A389G						PASS	.	C	ARG/LYS,ARG/LYS	1391,2444		199,766,227,667,344	59	52	55		389,344	0.6	0.2	X	dbSNP_116	55	63,6663		1,41,20,2385,1852	yes	missense,missense	TEX11	NM_001003811.1,NM_031276.2	26,26	200,807,247,3052,2196	CC,CT,C,TT,T		0.9367,36.2712,13.7676	benign,benign	130/941,115/926	70073159	1454,9107	2203	4299	6502	SO:0001583	missense	56159	exon7			CATTCTTTTCCTA	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.389A>G	X.37:g.70073159T>C	ENSP00000379226:p.Lys130Arg	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	154	84	0.545455	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	343	0.20675105485232068	93	0.24345549738219896	38	0.11728395061728394	78	0.1703056768558952	2	0.0026455026455026454	t	0.004	-2.307809	0.00240	0.362712	0.009367	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.32515	1.45;1.46;1.46	4.67	0.552	0.17230	Tetratricopeptide-like helical (1);	0.195124	0.44097	N	0.000482	T	0.00012	0.0000	L	0.28192	0.835	0.58432	P	1.0000000000287557E-6	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.005	T	0.48399	-0.9039	8	.	.	.	-9.5849	5.2184	0.15356	0.1379:0.1763:0.0:0.6859	rs6525433;rs52823269;rs57911929;rs6525433	115;130	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	R	115;130;130	ENSP00000363453:K115R;ENSP00000379226:K130R;ENSP00000340995:K130R	.	K	-	2	0	TEX11	69989884	0.993000	0.37304	0.217000	0.23759	0.001000	0.01503	0.343000	0.19944	-0.323000	0.08602	-1.201000	0.01664	AAA	0|0.003;C|0.200	0.200	strong		0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			C	70073159	T	C	70073159	3	2	22	1	0	0	0	0	1	0	0	0	15771	1841	64	2	2533	2	TEX11	23	70073159	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	182858	70073159	85197401	11209	16317										
SLC7A3	84889	hgsc.bcm.edu	37	chrX	70146475	70146475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacaaccactgcagtccacaGcaggtctccagaaagcaatg	8	14	1	1	rs6525447	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70146475G>C	ENST00000374299.3	-	10	1666	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.L508V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	508			L -> V (in dbSNP:rs6525447). {ECO:0000269|PubMed:15489334}.		amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTCCACAGCAGGTCTCCA	0.517													C|||	1513	0.400795	0.4463	0.304	3775	,	,		14389	0.3512		0.0616	False		,,,				2504	0.3027				p.L508V		Atlas-SNP	.											.	SLC7A3	76	.	0			c.C1522G						PASS	.	C	VAL/LEU,VAL/LEU	2165,1669		533,772,327,327,243	45	37	40		1522,1522	4.2	1	X	dbSNP_116	40	638,6088		31,406,170,1991,1700	yes	missense,missense	SLC7A3	NM_001048164.2,NM_032803.5	32,32	564,1178,497,2318,1943	CC,CG,C,GG,G		9.4856,43.5316,26.5436	benign,benign	508/620,508/620	70146475	2803,7757	2202	4298	6500	SO:0001583	missense	84889	exon10			TCCACAGCAGGTC	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1522C>G	X.37:g.70146475G>C	ENSP00000363417:p.Leu508Val	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	192	191	0.994792	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	575	0.3465943339361061	149	0.4281609195402299	77	0.275	115	0.279126213592233	34	0.04607046070460705	C	0.012	-1.681666	0.00745	0.564684	0.094856	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87571	-2.27;-2.27	5.01	4.15	0.48705	.	0.695584	0.14611	N	0.309011	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	9	0.12430	T	0.62	.	7.8134	0.29245	0.0:0.612:0.3015:0.0866	rs6525447;rs17265153;rs17856987;rs52796906;rs6525447	508	Q8WY07	CTR3_HUMAN	V	508	ENSP00000363417:L508V;ENSP00000298085:L508V	ENSP00000298085:L508V	L	-	1	2	SLC7A3	70063200	0.000000	0.05858	0.999000	0.59377	0.016000	0.09150	-0.142000	0.10311	0.632000	0.30432	-0.252000	0.11476	CTG	0|0.018;C|0.306	0.306	strong		0.517	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		C	70146475	G	C	70146475	3	2	22	1	0	0	0	0	1	0	0	0	14698	962	34	4	349	4	SLC7A3	23	70146475	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	73316	70146475	85124085	11210	16318										
CXorf65	158830	hgsc.bcm.edu	37	chrX	70325881	70325881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cgttccaccttacaaacgtaGtaggtgcttcgagctgtaag	10	10	0	0	rs138762266	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70325881G>A	ENST00000374251.5	-	3	267	c.219C>T	c.(217-219)taC>taT	p.Y73Y		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	73										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TACAAACGTAGTAGGTGCTTC	0.443													G|||	10	0.00264901	0.0068	0.0014	3775	,	,		16348	0.0		0.0	False		,,,				2504	0.0				p.Y73Y		Atlas-SNP	.											.	CXorf65	23	.	0			c.C219T						PASS	.	G		41,3794		0,37,4,1595,567	169	128	142		219	3.1	0.9	X	dbSNP_134	142	0,6728		0,0,0,2428,1872	no	coding-synonymous	CXorf65	NM_001025265.2		0,37,4,4023,2439	AA,AG,A,GG,G		0.0,1.0691,0.3881		73/184	70325881	41,10522	2203	4300	6503	SO:0001819	synonymous_variant	158830	exon3			AACGTAGTAGGTG	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.219C>T	X.37:g.70325881G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	174	77	0.442529	NM_001025265		Silent	SNP	ENST00000374251.5	37	CCDS35324.1																																																																																			G|0.996;A|0.004	0.004	strong		0.443	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		A	70325881	G	A	70325881	2	1	22	1	0	0	0	0	0	0	0	1	4117	1024	36	2		2	CXorf65	23	70325881	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	179406	70325881	84944679	11211	16319										
MED12	9968	hgsc.bcm.edu	37	chrX	70339715	70339715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcaccaagccactcacgcaActagccaaaaaggtaaggta	9	12	1	0	rs201566660		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70339715A>G	ENST00000374080.3	+	3	416	c.384A>G	c.(382-384)caA>caG	p.Q128Q	MED12_ENST00000374102.1_Silent_p.Q128Q|MED12_ENST00000333646.6_Silent_p.Q128Q			Q93074	MED12_HUMAN	mediator complex subunit 12	128					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACTCACGCAACTAGCCAAAA	0.502			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						.|||	9	0.00238411	0.0061	0.0014	3775	,	,		15678	0.0		0.0	False		,,,				2504	0.0				p.Q128Q		Atlas-SNP	.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	.	0			c.A384G						PASS	.	A		31,3377		0,27,4,1392,566	33	32	33		384	-3.8	1	X		33	0,6498		0,0,0,2353,1792	no	coding-synonymous	MED12	NM_005120.2		0,27,4,3745,2358	GG,GA,G,AA,A		0.0,0.9096,0.3129		128/2178	70339715	31,9875	1989	4145	6134	SO:0001819	synonymous_variant	9968	exon3			CACGCAACTAGCC	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.384A>G	X.37:g.70339715A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	152	68	0.447368	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1	2	0.0012055455093429777	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	.	6.865	0.528992	0.13127	0.009096	0.0	ENSG00000184634	ENST00000429213	.	.	.	5.73	-3.76	0.04359	.	.	.	.	.	T	0.33585	0.0868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35226	-0.9797	4	.	.	.	-1.517	4.2759	0.10809	0.1879:0.4151:0.308:0.089	.	.	.	.	S	113	.	.	N	+	2	0	MED12	70256440	1.000000	0.71417	0.980000	0.43619	0.912000	0.54170	0.874000	0.28065	-0.477000	0.06832	-1.276000	0.01395	AAC	A|0.999;G|0.001	0.001	strong		0.502	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		G	70339715	A	G	70339715	2	3	22	1	0	0	0	0	0	0	0	1	9428	40	2	2		2	MED12	23	70339715	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	13834	70339715	84930845	11212	16320										
TAF1	6872	hgsc.bcm.edu	37	chrX	70586196	70586196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgcgatttgctgctgcggaCagcagctaccatcactgctg	11	13	1	0	rs139510844	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70586196C>T	ENST00000373790.4	+	1	83	c.32C>T	c.(31-33)aCa>aTa	p.T11I	TAF1_ENST00000449580.1_Missense_Mutation_p.T11I|TAF1_ENST00000276072.3_Missense_Mutation_p.T11I|TAF1_ENST00000423759.1_Missense_Mutation_p.T11I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	11	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTGCTGCGGACAGCAGCTACC	0.562													c|||	27	0.00715232	0.0189	0.0029	3775	,	,		5194	0.0		0.0	False		,,,				2504	0.0				p.T11I		Atlas-SNP	.											.	TAF1	439	.	0			c.C32T						PASS	.	C	ILE/THR,ILE/THR	98,3737		0,86,12,1546,559	66	56	59		32,32	-5.4	0	X	dbSNP_134	59	0,6728		0,0,0,2428,1872	yes	missense,missense	TAF1	NM_004606.3,NM_138923.2	89,89	0,86,12,3974,2431	TT,TC,T,CC,C		0.0,2.5554,0.9278	possibly-damaging,possibly-damaging	11/1894,11/1873	70586196	98,10465	2203	4300	6503	SO:0001583	missense	6872	exon1			TGCGGACAGCAGC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.32C>T	X.37:g.70586196C>T	ENSP00000362895:p.Thr11Ile	Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	351	183	0.521368	NM_004606	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	12	0.007233273056057866	6	0.012345679012345678	1	0.002777777777777778	1	0.0017482517482517483	0	0.0	.	10.35	1.325295	0.24080	0.025554	0.0	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08720	3.06;3.12;3.13;3.08	4.36	-5.37	0.02681	.	4.117550	0.00760	N	0.001123	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.34304	-0.9834	10	0.39692	T	0.17	.	4.0791	0.09917	0.4281:0.2007:0.0:0.3712	.	11;11	P21675;P21675-2	TAF1_HUMAN;.	I	11	ENSP00000362895:T11I;ENSP00000389000:T11I;ENSP00000406549:T11I;ENSP00000276072:T11I	ENSP00000276072:T11I	T	+	2	0	TAF1	70502921	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.175000	0.03102	-1.604000	0.01595	0.399000	0.26434	ACA	C|0.989;T|0.011	0.011	strong		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70586196	C	T	70586196	3	4	22	1	0	0	0	0	1	0	0	0	15510	478	17	2	34	2	TAF1	23	70586196	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	246481	70586196	84684364	11213	16321										
TAF1	6872	hgsc.bcm.edu	37	chrX	70595132	70595132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aaggaccaggattctattacTggtggtaagtagagattgtc	12	5	1	1	rs5981106	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70595132T>C	ENST00000373790.4	+	4	579	c.528T>C	c.(526-528)acT>acC	p.T176T	TAF1_ENST00000276072.3_Silent_p.T176T|TAF1_ENST00000423759.1_Silent_p.T176T|TAF1_ENST00000449580.1_Silent_p.T176T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	176	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTCTATTACTGGTGGTAAGT	0.438													C|||	293	0.0776159	0.2012	0.0274	3775	,	,		12232	0.0		0.005	False		,,,				2504	0.0031				p.T176T		Atlas-SNP	.											.	TAF1	439	.	0			c.T528C						PASS	.	C	,	921,2914		89,609,134,934,437	96	82	87		528,528	-6.1	0	X	dbSNP_114	87	38,6690		0,28,10,2400,1862	no	coding-synonymous,coding-synonymous	TAF1	NM_004606.3,NM_138923.2	,	89,637,144,3334,2299	CC,CT,C,TT,T		0.5648,24.0156,9.0789	,	176/1894,176/1873	70595132	959,9604	2203	4300	6503	SO:0001819	synonymous_variant	6872	exon4			TATTACTGGTGGT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.528T>C	X.37:g.70595132T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	158	67	0.424051	NM_004606	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	CCDS35325.1																																																																																			T|0.891;C|0.109	0.109	strong		0.438	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		C	70595132	T	C	70595132	2	2	22	1	0	0	0	0	0	0	0	1	15510	1567	55	3		3	TAF1	23	70595132	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	8936	70595132	84675428	11214	16322										
TAF1	6872	hgsc.bcm.edu	37	chrX	70627477	70627477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccctatggtgacgctgtcGtccatcttggagtctatcat	10	11	3	1	rs7050748	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70627477G>A	ENST00000373790.4	+	27	4209	c.4158G>A	c.(4156-4158)tcG>tcA	p.S1386S	TAF1_ENST00000276072.3_Silent_p.S1407S|TAF1_ENST00000423759.1_Silent_p.S1407S|TAF1_ENST00000449580.1_Silent_p.S1386S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1386	Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGACGCTGTCGTCCATCTTGG	0.438													A|||	293	0.0776159	0.2012	0.0274	3775	,	,		15657	0.0		0.005	False		,,,				2504	0.0031				p.S1407S		Atlas-SNP	.											.	TAF1	439	.	0			c.G4221A						PASS	.	A	,	921,2914		89,609,134,934,437	129	111	117		4221,4158	0.9	1	X	dbSNP_116	117	39,6689		0,29,10,2399,1862	no	coding-synonymous,coding-synonymous	TAF1	NM_004606.3,NM_138923.2	,	89,638,144,3333,2299	AA,AG,A,GG,G		0.5797,24.0156,9.0883	,	1407/1894,1386/1873	70627477	960,9603	2203	4300	6503	SO:0001819	synonymous_variant	6872	exon27			GCTGTCGTCCATC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4158G>A	X.37:g.70627477G>A		Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	316	136	0.43038	NM_004606	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	CCDS35325.1	117	0.0705244122965642	71	0.1658878504672897	6	0.01694915254237288	0	0.0	3	0.003968253968253968	.	8.199	0.797814	0.16327	0.240156	0.005797	ENSG00000147133	ENST00000463163;ENST00000437147	.	.	.	4.95	0.941	0.19519	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999938	.	.	.	.	.	.	T	0.28396	-1.0045	3	.	.	.	.	1.3732	0.02215	0.2938:0.111:0.1437:0.4515	rs7050748	.	.	.	H	52;41	.	.	R	+	2	0	TAF1	70544202	0.020000	0.18652	0.992000	0.48379	0.891000	0.51852	-0.742000	0.04850	-0.381000	0.07882	-0.574000	0.04147	CGT	0|0.003;A|0.098	0.098	strong		0.438	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70627477	G	A	70627477	2	1	22	1	0	0	0	0	0	0	0	1	15510	1132	40	1		1	TAF1	23	70627477	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32345	70627477	84643083	11215	16323										
OGT	8473	hgsc.bcm.edu	37	chrX	70777435	70777435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aagaataggttgccttctgtGcatcctcatcatagtatgct	8	9	3	1	rs34739713	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:70777435G>A	ENST00000373719.3	+	12	1732	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V	OGT_ENST00000373701.3_Silent_p.V495V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	505					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGCCTTCTGTGCATCCTCATC	0.433													G|||	160	0.0423841	0.1127	0.0144	3775	,	,		14352	0.0		0.001	False		,,,				2504	0.0				p.V505V		Atlas-SNP	.											.	OGT	207	.	0			c.G1515A						PASS	.	G	,	533,3302		27,404,75,1201,496	158	104	122		1515,1485	1.5	1	X	dbSNP_126	122	2,6726		0,2,0,2426,1872	no	coding-synonymous,coding-synonymous	OGT	NM_181672.2,NM_181673.2	,	27,406,75,3627,2368	AA,AG,A,GG,G		0.0297,13.8983,5.0648	,	505/1047,495/1037	70777435	535,10028	2203	4300	6503	SO:0001819	synonymous_variant	8473	exon12			TTCTGTGCATCCT	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1515G>A	X.37:g.70777435G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	185	90	0.486486	NM_181672	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	CCDS14414.1																																																																																			G|0.947;A|0.053	0.053	strong		0.433	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		A	70777435	G	A	70777435	2	1	22	1	0	0	0	0	0	0	0	1	10847	1306	46	2		2	OGT	23	70777435	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	149958	70777435	84493125	11216	16324										
RGAG4	340526	hgsc.bcm.edu	37	chrX	71350294	71350294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcttgctgaaaagccctcAtgcgcttcctctggtccttg	8	14	3	1	rs146618350		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:71350294A>G	ENST00000545866.1	-	1	1464	c.1097T>C	c.(1096-1098)aTg>aCg	p.M366T	RGAG4_ENST00000609883.1_Missense_Mutation_p.M366T|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	366										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAAGCCCTCATGCGCTTCCT	0.498													A|||	19	0.00503311	0.0144	0.0	3775	,	,		14735	0.0		0.0	False		,,,				2504	0.0				p.M366T		Atlas-SNP	.											.	RGAG4	63	.	0			c.T1097C						PASS	.	A	,THR/MET	57,3395		0,49,8,1392,562	43	36	39		,1097	2.9	0	X	dbSNP_134	39	0,6522		0,0,0,2358,1806	yes	intron,missense	RGAG4,NHSL2	NM_001013627.2,NM_001024455.3	,81	0,49,8,3750,2368	GG,GA,G,AA,A		0.0,1.6512,0.5715	,benign	,366/570	71350294	57,9917	2011	4164	6175	SO:0001583	missense	340526	exon1			GCCCTCATGCGCT	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1097T>C	X.37:g.71350294A>G	ENSP00000441366:p.Met366Thr	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	238	237	0.995798	NM_001024455	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	10	0.006027727546714889	7	0.01440329218106996	0	0.0	0	0.0	0	0.0	A	9.812	1.183556	0.21870	0.016512	0.0	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12984	2.63;2.63	4.13	2.94	0.34122	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.39742	-0.9599	8	.	.	.	-2.2205	8.3218	0.32134	0.8026:0.1974:0.0:0.0	.	366	Q5HYW3	RGAG4_HUMAN	T	366	ENSP00000441366:M366T;ENSP00000418667:M366T	.	M	-	2	0	RGAG4	71267019	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	0.748000	0.26305	0.701000	0.31803	0.486000	0.48141	ATG	A|0.994;G|0.006	0.006	strong		0.498	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		G	71350294	A	G	71350294	3	3	22	1	0	0	0	0	1	0	0	0	13275	217	8	2	616	2	RGAG4	23	71350294	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	572859	71350294	83920266	11217	16325										
PIN4	5303	hgsc.bcm.edu	37	chrX	71416721	71416721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgagattcaatgaagtggcCgcacagtatagtgaagataa	11	5	1	4	rs11415	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:71416721C>T	ENST00000373669.2	+	3	311	c.279C>T	c.(277-279)gcC>gcT	p.A93A	RN7SL388P_ENST00000498736.2_RNA|PIN4_ENST00000423432.2_Silent_p.A93A|PIN4_ENST00000218432.5_Silent_p.A93A	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	68	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					ATGAAGTGGCCGCACAGTATA	0.363													C|||	982	0.260132	0.2428	0.1354	3775	,	,		13353	0.3542		0.0199	False		,,,				2504	0.1943				p.A93A		Atlas-SNP	.											.	PIN4	8	.	0			c.C279T						PASS	.	C	,	1124,2711		135,677,177,820,394	87	88	87		279,279	-3.5	0	X	dbSNP_52	87	205,6523		2,150,51,2276,1821	no	coding-synonymous,coding-synonymous	PIN4	NM_001170747.1,NM_006223.3	,	137,827,228,3096,2215	TT,TC,T,CC,C		3.047,29.309,12.5817	,	93/134,93/157	71416721	1329,9234	2203	4300	6503	SO:0001819	synonymous_variant	5303	exon3			AGTGGCCGCACAG	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.279C>T	X.37:g.71416721C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	236	234	0.991525	NM_001170747	A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Silent	SNP	ENST00000373669.2	37	CCDS14417.1	364	0.21940928270042195	80	0.19047619047619047	28	0.08383233532934131	127	0.28475336322869954	11	0.014705882352941176	C	5.608	0.296938	0.10622	0.29309	0.03047	ENSG00000102309	ENST00000446576	.	.	.	5.55	-3.48	0.04739	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999503957	.	.	.	.	.	.	T	0.30765	-0.9967	3	.	.	.	-10.4394	7.603	0.28087	0.1089:0.3364:0.0:0.5547	rs11415;rs1044546;rs3184345;rs16991466;rs11415	.	.	.	L	98	.	.	P	+	2	0	PIN4	71333446	0.000000	0.05858	0.006000	0.13384	0.765000	0.43378	-1.269000	0.02834	-0.891000	0.03940	-0.354000	0.07668	CCG	C|0.810;0|0.003	.	strong		0.363	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057175.2	NM_006223		T	71416721	C	T	71416721	2	4	22	1	0	0	0	0	0	0	0	1	11931	639	23	1		1	PIN4	23	71416721	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66427	71416721	83853839	11218	16326										
HDAC8	55869	hgsc.bcm.edu	37	chrX	71791912	71791912	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaaagacaacttacctcatCtgcttatgcagtgcatatgc	7	10	2	2	rs11093377	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:71791912C>T	ENST00000373573.3	-	2	500	c.159G>A	c.(157-159)caG>caA	p.Q53Q	HDAC8_ENST00000373571.1_Silent_p.Q53Q|HDAC8_ENST00000373556.3_Silent_p.Q53Q|HDAC8_ENST00000373560.2_Silent_p.Q53Q|HDAC8_ENST00000373559.4_Silent_p.Q53Q|HDAC8_ENST00000373554.1_Silent_p.Q53Q|HDAC8_ENST00000439122.2_Silent_p.Q53Q|HDAC8_ENST00000373583.1_Silent_p.Q53Q|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373589.4_Silent_p.Q53Q|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373561.4_Silent_p.Q53Q	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	53	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATCTGCTTATGCA	0.383													T|||	1576	0.417483	0.5219	0.2867	3775	,	,		13458	0.498		0.0149	False		,,,				2504	0.1738				p.Q53Q		Atlas-SNP	.											.	HDAC8	18	.	0			c.G159A						PASS	.	T	,,,,,	2372,1463		633,761,345,238,226	109	85	93		159,159,159,159,159,159	0.1	1	X	dbSNP_120	93	68,6660		1,54,12,2373,1860	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDAC8	NM_001166418.1,NM_001166419.1,NM_001166420.1,NM_001166422.1,NM_001166448.1,NM_018486.2	,,,,,	634,815,357,2611,2086	TT,TC,T,CC,C		1.0107,38.1486,23.0995	,,,,,	53/287,53/257,53/147,53/159,53/140,53/378	71791912	2440,8123	2203	4300	6503	SO:0001819	synonymous_variant	55869	exon2			CCTCATCTGCTTA	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.159G>A	X.37:g.71791912C>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	273	133	0.487179	NM_018486	A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	CCDS14420.1																																																																																			C|0.654;0|0.003	.	strong		0.383	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		T	71791912	C	T	71791912	2	4	22	1	0	0	0	0	0	0	0	1	7013	912	32	2		2	HDAC8	23	71791912	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	375191	71791912	83478648	11219	16327										
ABCB7	22	hgsc.bcm.edu	37	chrX	74284996	74284996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtccagctaattttgccacTgcatacacttcctcaggtga	7	12	1	1	rs1340990|rs386825773	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:74284996T>C	ENST00000373394.3	-	13	1747	c.1740A>G	c.(1738-1740)gcA>gcG	p.A580A	ABCB7_ENST00000339447.4_Silent_p.A540A|ABCB7_ENST00000253577.3_Silent_p.A581A|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	580	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		A -> V (in dbSNP:rs1340989).		cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTTTGCCACTGCATACACTT	0.418													N|||	445	0.117881	0.3192	0.0331	3775	,	,		13377	0.0		0.0	False		,,,				2504	0.0				p.A581A		Atlas-SNP	.											.	ABCB7	69	.	0			c.A1743G						PASS	.			1422,2413		238,743,203,651,368	123	93	103		1743	-3.6	0.6	X	dbSNP_88	103	8,6720		0,7,1,2421,1871	no	coding-synonymous	ABCB7	NM_004299.3		238,750,204,3072,2239	CC,CT,C,TT,T		0.1189,37.0795,13.5378		581/754	74284996	1430,9133	2203	4300	6503	SO:0001819	synonymous_variant	22	exon13			TGCCACTGCATAC	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1740A>G	X.37:g.74284996T>C		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	250	121	0.484	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37																																																																																				T|0.867;0|0.003	.	strong		0.418	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		C	74284996	T	C	74284996	2	2	22	1	0	0	0	0	0	0	0	1	46	1567	55	3		3	ABCB7	23	74284996	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2493084	74284996	80985564	11220	16328										
COX7B	1349	hgsc.bcm.edu	37	chrX	77158147	77158147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gttttcctgtaagttcgaagCattcagcaaacaatggcaag	9	8	1	0	rs61752458	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:77158147C>A	ENST00000481445.1	+	2	164	c.48C>A	c.(46-48)agC>agA	p.S16R	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	16					cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						AAGTTCGAAGCATTCAGCAAA	0.388													C|||	49	0.0129801	0.0356	0.0029	3775	,	,		15718	0.0		0.0	False		,,,				2504	0.0				p.S16R		Atlas-SNP	.											.	COX7B	8	.	0			c.C48A						PASS	.	C	ARG/SER	101,3734		1,83,16,1548,555	138	107	118		48	3.1	1	X	dbSNP_129	118	0,6728		0,0,0,2428,1872	yes	missense	COX7B	NM_001866.2	110	1,83,16,3976,2427	AA,AC,A,CC,C		0.0,2.6336,0.9562	benign	16/81	77158147	101,10462	2203	4300	6503	SO:0001583	missense	1349	exon2			TCGAAGCATTCAG	Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"Mitochondrial respiratory chain complex / Complex IV"	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.48C>A	X.37:g.77158147C>A	ENSP00000417656:p.Ser16Arg	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	87	42	0.482759	NM_001866	B2R4M3|Q6ICR1	Missense_Mutation	SNP	ENST00000481445.1	37	CCDS14437.1	11	0.006630500301386378	4	0.008298755186721992	1	0.002777777777777778	0	0.0	0	0.0	C	17.45	3.392912	0.62066	0.026336	0.0	ENSG00000131174	ENST00000481445	T	0.48836	0.8	4.92	3.13	0.36017	.	0.349121	0.32401	N	0.006153	T	0.29288	0.0729	.	.	.	0.40351	P	0.02086100000000002	P	0.43542	0.81	P	0.53062	0.717	T	0.56619	-0.7949	8	0.52906	T	0.07	-0.0019	6.4067	0.21668	0.1816:0.7202:0.0:0.0982	rs61752458	16	P24311	COX7B_HUMAN	R	16	ENSP00000417656:S16R	ENSP00000417656:S16R	S	+	3	2	COX7B	77044803	1.000000	0.71417	0.997000	0.53966	0.814000	0.46013	0.699000	0.25586	0.330000	0.23485	0.523000	0.50628	AGC	C|0.991;A|0.009	0.009	strong		0.388	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058970.1	NM_001866		A	77158147	C	A	77158147	3	1	22	1	0	0	0	0	1	0	0	0	3782	709	25	4	54	4	COX7B	23	77158147	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2873151	77158147	78112413	11221	16329										
PGAM4	441531	hgsc.bcm.edu	37	chrX	77225099	77225099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctccaggttccatgtgctctCgccgtgccggatcagcacca	10	16	2	0	rs6622613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:77225099C>T	ENST00000458128.1	-	1	36	c.37G>A	c.(37-39)Gag>Aag	p.E13K	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	13					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CATGTGCTCTCGCCGTGCCGG	0.587													C|||	52	0.0137748	0.0363	0.0058	3775	,	,		12671	0.0		0.0	False		,,,				2504	0.0				p.E13K		Atlas-SNP	.											.	PGAM4	28	.	0			c.G37A						PASS	.	C	,LYS/GLU	101,3734		1,82,17,1549,554	55	54	54		,37	0.1	0.6	X	dbSNP_116	54	9,6713		0,7,2,2420,1866	no	intron,missense	ATP7A,PGAM4	NM_000052.4,NM_001029891.2	,56	1,89,19,3969,2420	TT,TC,T,CC,C		0.1339,2.6336,1.042	,possibly-damaging	,13/255	77225099	110,10447	2203	4295	6498	SO:0001583	missense	441531	exon1			TGCTCTCGCCGTG	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.37G>A	X.37:g.77225099C>T	ENSP00000412189:p.Glu13Lys	Somatic	470	1	0.00212766		WXS	Illumina HiSeq	Phase_I	488	248	0.508197	NM_001029891	Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	CCDS35338.1	13	0.007836045810729355	4	0.008298755186721992	4	0.011111111111111112	0	0.0	0	0.0	C	17.78	3.473730	0.63737	0.026336	0.001339	ENSG00000226784	ENST00000458128	D	0.83163	-1.69	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	U	0.000000	T	0.53916	0.1826	L	0.55743	1.74	0.22675	P	0.99886112	B	0.31077	0.307	B	0.35655	0.207	T	0.64266	-0.6448	8	.	.	.	-7.1432	6.135	0.20227	0.0:0.9996:0.0:4.0E-4	rs6622613	13	Q8N0Y7	PGAM4_HUMAN	K	13	ENSP00000412189:E13K	.	E	-	1	0	PGAM4	77111755	1.000000	0.71417	0.623000	0.29173	0.641000	0.38312	3.649000	0.54417	0.260000	0.21731	0.264000	0.19307	GAG	C|0.990;T|0.010	0.010	strong		0.587	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		T	77225099	C	T	77225099	3	4	22	1	0	0	0	0	1	0	0	0	11775	893	31	1	731	1	PGAM4	23	77225099	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	66952	77225099	78045461	11222	16330										
TBX22	50945	hgsc.bcm.edu	37	chrX	79283509	79283509	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggtgtattggatgggcttTtagagacctacccatggagg	16	6	0	1	rs195293	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:79283509T>C	ENST00000373294.5	+	7	911	c.883T>C	c.(883-885)Tta>Cta	p.L295L	TBX22_ENST00000373296.3_Silent_p.L295L|TBX22_ENST00000373291.1_Silent_p.L175L|TBX22_ENST00000442340.1_Silent_p.L175L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	295					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGATGGGCTTTTAGAGACCTA	0.363													T|||	383	0.101457	0.2723	0.0317	3775	,	,		12527	0.0		0.001	False		,,,				2504	0.0				p.L295L		Atlas-SNP	.											.	TBX22	118	.	0			c.T883C						PASS	.	T	,,	1214,2621		158,708,190,766,381	94	86	89		883,523,883	3.9	1	X	dbSNP_79	89	9,6719		0,7,2,2421,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	TBX22	NM_001109878.1,NM_001109879.1,NM_016954.2	,,	158,715,192,3187,2251	CC,CT,C,TT,T		0.1338,31.6558,11.5782	,,	295/521,175/401,295/521	79283509	1223,9340	2203	4300	6503	SO:0001819	synonymous_variant	50945	exon7			GGGCTTTTAGAGA	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.883T>C	X.37:g.79283509T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	85	84	0.988235	NM_016954	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	CCDS14445.1																																																																																			T|0.847;0|0.016	.	strong		0.363	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		C	79283509	T	C	79283509	2	2	22	1	0	0	0	0	0	0	0	1	15655	1838	64	2		2	TBX22	23	79283509	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2058410	79283509	75987051	11223	16331										
CYLC1	1538	hgsc.bcm.edu	37	chrX	83128911	83128911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agaatgatgacaagaaaaagGatgcaaagaaaattacattc	8	4	0	5	rs12008888	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:83128911G>C	ENST00000329312.4	+	4	1232	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	399			D -> H (in dbSNP:rs12008888).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAGAAAAAGGATGCAAAGAA	0.343													G|||	200	0.0529801	0.1384	0.0231	3775	,	,		14297	0.0		0.001	False		,,,				2504	0.0				p.D399H		Atlas-SNP	.											.	CYLC1	272	.	0			c.G1195C						PASS	.	G	HIS/ASP	581,3240		41,402,97,1184,470	30	24	26		1195	3.2	0	X	dbSNP_120	26	5,6711		0,5,0,2421,1864	yes	missense	CYLC1	NM_021118.1	81	41,407,97,3605,2334	CC,CG,C,GG,G		0.0744,15.2054,5.5614	probably-damaging	399/652	83128911	586,9951	2194	4290	6484	SO:0001583	missense	1538	exon4			AAAAAGGATGCAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1195G>C	X.37:g.83128911G>C	ENSP00000331556:p.Asp399His	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	75	0.045207956600361664	41	0.09234234234234234	5	0.014204545454545454	0	0.0	0	0.0	g	2.122	-0.401166	0.04865	0.152054	7.44E-4	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.28895	1.59	4.12	3.24	0.37175	.	.	.	.	.	T	0.00271	0.0008	L	0.49126	1.545	0.80722	P	0.0	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.06588	-1.0818	8	0.66056	D	0.02	-7.8087	6.0759	0.19915	0.1403:0.0:0.8597:0.0	rs12008888;rs52819056;rs12008888	399;399	P35663;F5H4V5	CYLC1_HUMAN;.	H	399	ENSP00000331556:D399H	ENSP00000331556:D399H	D	+	1	0	CYLC1	83015567	0.979000	0.34478	0.008000	0.14137	0.011000	0.07611	3.108000	0.50337	2.026000	0.59711	0.600000	0.82982	GAT	0|0.017;C|0.055	0.055	strong		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		C	83128911	G	C	83128911	3	2	22	1	0	0	0	0	1	0	0	0	4141	1174	41	4	1209	4	CYLC1	23	83128911	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	3845402	83128911	72141649	11224	16332										
HDX	139324	hgsc.bcm.edu	37	chrX	83591879	83591879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catcattcggaacaacttcaTtgggctcttctacagaaaaa	6	10	4	1	rs77791258	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:83591879T>C	ENST00000297977.5	-	7	1781	c.1670A>G	c.(1669-1671)aAt>aGt	p.N557S	HDX_ENST00000373177.2_Missense_Mutation_p.N557S|HDX_ENST00000506585.2_Missense_Mutation_p.N499S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	557						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACAACTTCATTGGGCTCTTC	0.333													t|||	172	0.0455629	0.1188	0.0216	3775	,	,		12736	0.0		0.0	False		,,,				2504	0.0				p.N557S	Pancreas(53;231 1169 36156 43751 51139)	Atlas-SNP	.											.	HDX	124	.	0			c.A1670G						PASS	.	C	SER/ASN,SER/ASN,SER/ASN	503,3330		35,338,95,1258,476	86	72	76		1496,1670,1670	-7.3	0.4	X	dbSNP_131	76	4,6720		0,4,0,2423,1870	yes	missense,missense,missense	HDX	NM_001177478.1,NM_001177479.1,NM_144657.4	46,46,46	35,342,95,3681,2346	CC,CT,C,TT,T		0.0595,13.1229,4.8025	benign,benign,benign	499/633,557/691,557/691	83591879	507,10050	2202	4297	6499	SO:0001583	missense	139324	exon7			ACTTCATTGGGCT	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1670A>G	X.37:g.83591879T>C	ENSP00000297977:p.Asn557Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_144657	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	60	0.03616636528028933	39	0.08369098712446352	4	0.011363636363636364	0	0.0	0	0.0	T	0.666	-0.803647	0.02841	0.131229	5.95E-4	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.27557	1.66;1.66;1.66	5.33	-7.27	0.01461	.	0.753578	0.13237	N	0.403154	T	0.00144	0.0004	N	0.11560	0.145	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.06757	T	0.87	-14.8311	16.4567	0.84019	0.0:0.6124:0.0:0.3876	.	557	Q7Z353	HDX_HUMAN	S	557;499;557	ENSP00000297977:N557S;ENSP00000362272:N499S;ENSP00000423670:N557S	ENSP00000297977:N557S	N	-	2	0	HDX	83478535	0.008000	0.16893	0.432000	0.26747	0.605000	0.37080	-2.080000	0.01368	-1.696000	0.01421	0.409000	0.27619	AAT	T|0.950;C|0.050	0.050	strong		0.333	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83591879	T	C	83591879	3	2	22	1	0	0	0	0	1	0	0	0	7026	1493	52	2	418	2	HDX	23	83591879	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	462968	83591879	71678681	11225	16333										
POF1B	79983	hgsc.bcm.edu	37	chrX	84600948	84600948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gattatttcctgtgatggctTggatttgctggctagaatca	11	6	1	2	rs60768249	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:84600948T>C	ENST00000262753.4	-	6	786	c.641A>G	c.(640-642)cAa>cGa	p.Q214R	POF1B_ENST00000373145.3_Missense_Mutation_p.Q214R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	214						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTGATGGCTTGGATTTGCTG	0.463													T|||	135	0.0357616	0.0946	0.0144	3775	,	,		12542	0.0		0.0	False		,,,				2504	0.0				p.Q214R		Atlas-SNP	.											.	POF1B	77	.	0			c.A641G						PASS	.	T	ARG/GLN	462,3373		16,338,92,1278,479	234	189	204		641	4.6	0	X	dbSNP_129	204	2,6726		0,1,1,2427,1871	yes	missense	POF1B	NM_024921.3	43	16,339,93,3705,2350	CC,CT,C,TT,T		0.0297,12.0469,4.3927	possibly-damaging	214/590	84600948	464,10099	2203	4300	6503	SO:0001583	missense	79983	exon6			ATGGCTTGGATTT	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.641A>G	X.37:g.84600948T>C	ENSP00000262753:p.Gln214Arg	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	202	106	0.524752	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	53	0.031946955997588906	32	0.06926406926406926	3	0.008426966292134831	0	0.0	0	0.0	T	6.220	0.408732	0.11812	0.120469	2.97E-4	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.10763	2.84;2.84	4.56	4.56	0.56223	.	0.364164	0.23070	N	0.052276	T	0.00178	0.0005	L	0.53249	1.67	0.80722	P	0.0	B;B	0.25272	0.058;0.122	B;B	0.25291	0.059;0.04	T	0.05801	-1.0863	9	0.66056	D	0.02	.	9.2182	0.37360	0.0:0.0:0.0:1.0	rs60768249	214;214	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	R	214	ENSP00000262753:Q214R;ENSP00000362238:Q214R	ENSP00000262753:Q214R	Q	-	2	0	POF1B	84487604	0.828000	0.29307	0.049000	0.19019	0.045000	0.14185	3.232000	0.51302	1.775000	0.52247	0.481000	0.45027	CAA	T|0.958;C|0.042	0.042	strong		0.463	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		C	84600948	T	C	84600948	3	2	22	1	0	0	0	0	1	0	0	0	12182	1812	63	2	1176	2	POF1B	23	84600948	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1009069	84600948	70669612	11226	16334										
KLHL4	56062	hgsc.bcm.edu	37	chrX	86877348	86877348	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctaatgcagtgggtgggGcatgatgtgcagaataggca	16	6	1	2	rs2273050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:86877348G>T	ENST00000373119.4	+	5	1207	c.1062G>T	c.(1060-1062)ggG>ggT	p.G354G	KLHL4_ENST00000373114.4_Silent_p.G354G	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGTGGGTGGGGCATGATGTGC	0.433													G|||	717	0.189934	0.1513	0.0504	3775	,	,		12144	0.1448		0.1879	False		,,,				2504	0.1503				p.G354G		Atlas-SNP	.											.	KLHL4	263	.	0			c.G1062T						PASS	.	G	,	714,3121		53,505,103,1074,468	159	131	140		1062,1062	-6.9	0.3	X	dbSNP_100	140	1319,5409		93,760,373,1575,1499	no	coding-synonymous,coding-synonymous	KLHL4	NM_019117.4,NM_057162.2	,	146,1265,476,2649,1967	TT,TG,T,GG,G		19.6046,18.618,19.2464	,	354/719,354/721	86877348	2033,8530	2203	4300	6503	SO:0001819	synonymous_variant	56062	exon5			GGTGGGGCATGAT	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1062G>T	X.37:g.86877348G>T		Somatic	373	1	0.00268097		WXS	Illumina HiSeq	Phase_I	348	162	0.465517	NM_019117	B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	CCDS14457.1																																																																																			G|0.807;T|0.193	0.193	strong		0.433	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			T	86877348	G	T	86877348	2	4	22	1	0	0	0	0	0	0	0	1	8391	1190	42	4		4	KLHL4	23	86877348	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2276400	86877348	68393212	11227	16335										
PCDH11X	27328	hgsc.bcm.edu	37	chrX	91090533	91090533	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtccgggacgtacattttCgcggtcctgctagcatgcgt	12	11	0	0	rs56704613	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:91090533C>T	ENST00000373094.1	+	1	875	c.30C>T	c.(28-30)ttC>ttT	p.F10F	PCDH11X_ENST00000395337.2_Silent_p.F10F|PCDH11X_ENST00000361724.1_Silent_p.F10F|PCDH11X_ENST00000406881.1_Silent_p.F10F|PCDH11X_ENST00000504220.2_Silent_p.F10F|PCDH11X_ENST00000361655.2_Silent_p.F10F|PCDH11X_ENST00000298274.8_Silent_p.F10F|PCDH11X_ENST00000373097.1_Silent_p.F10F|PCDH11X_ENST00000373088.1_Silent_p.F10F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	10					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CGTACATTTTCGCGGTCCTGC	0.488													C|||	266	0.0704636	0.1868	0.0245	3775	,	,		12350	0.0		0.002	False		,,,				2504	0.0				p.F10F	NSCLC(38;925 1092 2571 38200 45895)	Atlas-SNP	.											.	PCDH11X	714	.	0			c.C30T						PASS	.	C	,,,,,,,	788,3047		66,529,127,1037,444	131	105	114		30,30,30,30,30,30,30,30	1	1	X	dbSNP_129	114	5,6723		0,4,1,2424,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	,,,,,,,	66,533,128,3461,2315	TT,TC,T,CC,C		0.0743,20.5476,7.5073	,,,,,,,	10/1340,10/1066,10/1311,10/1330,10/1022,10/1026,10/1348,10/1338	91090533	793,9770	2203	4300	6503	SO:0001819	synonymous_variant	27328	exon1			CATTTTCGCGGTC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.30C>T	X.37:g.91090533C>T		Somatic	517	0	0		WXS	Illumina HiSeq	Phase_I	479	477	0.995825	NM_001168363	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			C|0.922;T|0.078	0.078	strong		0.488	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91090533	C	T	91090533	2	4	22	1	0	0	0	0	0	0	0	1	11508	883	31	1		1	PCDH11X	23	91090533	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	4213185	91090533	64180027	11228	16336										
DIAPH2	1730	hgsc.bcm.edu	37	chrX	96354707	96354707	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttttagaaccttgtgaaacaTcttcctgagcagaagatact	7	8	1	5	rs20387	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:96354707T>C	ENST00000324765.8	+	20	2609	c.2262T>C	c.(2260-2262)caT>caC	p.H754H	DIAPH2_ENST00000373054.4_Silent_p.H750H|DIAPH2_ENST00000355827.4_Silent_p.H754H|DIAPH2_ENST00000373049.4_Silent_p.H754H|DIAPH2_ENST00000373061.3_Silent_p.H754H			O60879	DIAP2_HUMAN	diaphanous-related formin 2	754	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGTGAAACATCTTCCTGAGC	0.308													T|||	17	0.00450331	0.0121	0.0014	3775	,	,		10804	0.0		0.0	False		,,,				2504	0.0				p.H754H		Atlas-SNP	.											.	DIAPH2	148	.	0			c.T2262C						PASS	.	T	,	74,3761		0,62,12,1570,559	84	69	74		2262,2262	0.1	0.9	X	dbSNP_67	74	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	DIAPH2	NM_006729.4,NM_007309.3	,	0,62,13,3998,2430	CC,CT,C,TT,T		0.0149,1.9296,0.71	,	754/1102,754/1097	96354707	75,10488	2203	4300	6503	SO:0001819	synonymous_variant	1730	exon20			GAAACATCTTCCT	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2262T>C	X.37:g.96354707T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	142	75	0.528169	NM_007309	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	CCDS14467.1																																																																																			T|0.993;C|0.007	0.007	strong		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		C	96354707	T	C	96354707	2	2	22	1	0	0	0	0	0	0	0	1	4519	1432	50	2		2	DIAPH2	23	96354707	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	5264174	96354707	58915853	11229	16337										
SYTL4	94121	hgsc.bcm.edu	37	chrX	99955925	99955925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgccgctcctgaatgatcttTcttcctggccagatgtcacc	8	14	3	3	rs16983588	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:99955925T>C	ENST00000372989.1	-	7	838	c.507A>G	c.(505-507)agA>agG	p.R169R	SYTL4_ENST00000372981.1_Silent_p.R169R|SYTL4_ENST00000454200.2_Silent_p.R169R|SYTL4_ENST00000263033.5_Silent_p.R169R|SYTL4_ENST00000455616.1_Silent_p.R169R|SYTL4_ENST00000276141.6_Silent_p.R169R	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	169					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAATGATCTTTCTTCCTGGCC	0.408													t|||	572	0.151523	0.4077	0.0432	3775	,	,		13506	0.0		0.002	False		,,,				2504	0.001				p.R169R		Atlas-SNP	.											.	SYTL4	72	.	0			c.A507G						PASS	.		,,	1688,2147		321,777,269,534,302	142	127	133		507,507,507	3.4	1	X	dbSNP_123	133	24,6704		0,19,5,2409,1867	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	,,	321,796,274,2943,2169	CC,CT,C,TT,T		0.3567,44.0156,16.2075	,,	169/672,169/672,169/672	99955925	1712,8851	2203	4300	6503	SO:0001819	synonymous_variant	94121	exon6			GATCTTTCTTCCT		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.507A>G	X.37:g.99955925T>C		Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	269	269	1	NM_001129896	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	CCDS14472.1																																																																																			0|0.004;C|0.166	0.166	strong		0.408	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		C	99955925	T	C	99955925	2	2	22	1	0	0	0	0	0	0	0	1	15482	1780	62	2		2	SYTL4	23	99955925	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3601218	99955925	55314635	11230	16338										
TRMT2B	79979	hgsc.bcm.edu	37	chrX	100278558	100278558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagtatccaccttcatgaaaTacaaggcagggctccaatgg	9	11	1	1	rs61745518	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:100278558T>C	ENST00000372936.3	-	8	1429	c.657A>G	c.(655-657)gtA>gtG	p.V219V	TRMT2B_ENST00000338687.7_Silent_p.V174V|TRMT2B_ENST00000372939.1_Silent_p.V174V|TRMT2B_ENST00000478422.1_5'Flank|TRMT2B_ENST00000545398.1_Silent_p.V219V|TRMT2B_ENST00000372931.5_Silent_p.V219V|TRMT2B_ENST00000372935.1_Silent_p.V219V	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	219						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTTCATGAAATACAAGGCAGG	0.458													T|||	74	0.0196026	0.0545	0.0029	3775	,	,		14763	0.0		0.0	False		,,,				2504	0.0				p.V219V		Atlas-SNP	.											.	TRMT2B	33	.	0			c.A657G						PASS	.	T	,,,	236,3599		8,187,33,1437,538	142	110	121		657,522,657,657	0.3	0.6	X	dbSNP_129	121	1,6727		0,1,0,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRMT2B	NM_001167970.1,NM_001167971.1,NM_001167972.1,NM_024917.5	,,,	8,188,33,3864,2410	CC,CT,C,TT,T		0.0149,6.1538,2.2437	,,,	219/505,174/460,219/505,219/505	100278558	237,10326	2203	4300	6503	SO:0001819	synonymous_variant	79979	exon7			ATGAAATACAAGG	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.657A>G	X.37:g.100278558T>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	180	175	0.972222	NM_001167972	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	CCDS14477.1																																																																																			T|0.979;C|0.021	0.021	strong		0.458	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		C	100278558	T	C	100278558	2	2	22	1	0	0	0	0	0	0	0	1	16563	1393	49	2		2	TRMT2B	23	100278558	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	322633	100278558	54992002	11231	16339										
BTK	695	hgsc.bcm.edu	37	chrX	100617218	100617218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttccggtgagaactcccAggttttaagcctgcaaaaca	9	11	1	1	rs148358153	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:100617218A>G	ENST00000308731.7	-	7	694	c.531T>C	c.(529-531)ccT>ccC	p.P177P	BTK_ENST00000372880.1_Silent_p.P177P	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	177					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAGAACTCCCAGGTTTTAAGC	0.498									Agammaglobulinemia, X-linked				A|||	26	0.00688742	0.0182	0.0029	3775	,	,		13779	0.0		0.0	False		,,,				2504	0.0				p.P177P		Atlas-SNP	.											.	BTK	87	.	0			c.T531C						PASS	.	A		73,3762		0,67,6,1565,565	111	95	100		531	2.7	1	X	dbSNP_134	100	0,6728		0,0,0,2428,1872	no	coding-synonymous	BTK	NM_000061.2		0,67,6,3993,2437	GG,GA,G,AA,A		0.0,1.9035,0.6911		177/660	100617218	73,10490	2203	4300	6503	SO:0001819	synonymous_variant	695	exon7	Familial Cancer Database	Bruton Type Agammaglobulinemia	ACTCCCAGGTTTT	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.531T>C	X.37:g.100617218A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	101	46	0.455446	NM_000061	B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	CCDS14482.1																																																																																			A|0.993;G|0.007	0.007	strong		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		G	100617218	A	G	100617218	2	3	22	1	0	0	0	0	0	0	0	1	1557	175	7	3		3	BTK	23	100617218	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	338660	100617218	54653342	11232	16340										
ARMCX2	9823	hgsc.bcm.edu	37	chrX	100912065	100912065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accgctgccctggaagtctcCgcttctctgggagcttctgc	11	15	3	0	rs78189978	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:100912065C>T	ENST00000328766.5	-	5	963	c.510G>A	c.(508-510)gcG>gcA	p.A170A	ARMCX2_ENST00000356824.4_Silent_p.A170A|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.A170A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	170	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGGAAGTCTCCGCTTCTCTGG	0.652													C|||	57	0.0150993	0.0416	0.0029	3775	,	,		11432	0.0		0.0	False		,,,				2504	0.0				p.A170A		Atlas-SNP	.											.	ARMCX2	75	.	0			c.G510A						PASS	.	C	,	213,3621		7,168,31,1457,539	28	29	28		510,510	-0.1	0	X	dbSNP_131	28	1,6713		0,1,0,2427,1858	no	coding-synonymous,coding-synonymous	ARMCX2	NM_014782.5,NM_177949.2	,	7,169,31,3884,2397	TT,TC,T,CC,C		0.0149,5.5556,2.0288	,	170/633,170/633	100912065	214,10334	2202	4286	6488	SO:0001819	synonymous_variant	9823	exon5			AGTCTCCGCTTCT	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.510G>A	X.37:g.100912065C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	74	46	0.621622	NM_014782	O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																			C|0.981;T|0.019	0.019	strong		0.652	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		T	100912065	C	T	100912065	2	4	22	1	0	0	0	0	0	0	0	1	960	639	23	1		1	ARMCX2	23	100912065	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	294847	100912065	54358495	11233	16341										
GPRASP1	9737	hgsc.bcm.edu	37	chrX	101912118	101912118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaggaacatggtacttagcCcagaaggggaagatcaggaa	13	8	1	2	rs2235804	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101912118C>T	ENST00000361600.5	+	5	4078	c.3277C>T	c.(3277-3279)Cca>Tca	p.P1093S	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1093S|GPRASP1_ENST00000537097.1_Missense_Mutation_p.P1093S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1093S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1093	OPRD1-binding.		P -> S (in dbSNP:rs2235804).		endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.P1093S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACTTAGCCCAGAAGGGGA	0.478													C|||	592	0.156821	0.1589	0.0447	3775	,	,		14834	0.1032		0.005	False		,,,				2504	0.2474				p.P1093S		Atlas-SNP	.											.	GPRASP1	140	.	1	Substitution - Missense(1)	stomach(1)	c.C3277T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,,SER/PRO	735,3100		59,510,107,1063,464	133	130	131		3277,3277,3277,,3277	0.8	0	X	dbSNP_98	131	22,6706		0,16,6,2412,1866	yes	missense,missense,missense,intron,missense	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	74,74,74,,74	59,526,113,3475,2330	TT,TC,T,CC,C		0.327,19.1656,7.1665	benign,benign,benign,,benign	1093/1396,1093/1396,1093/1396,,1093/1396	101912118	757,9806	2203	4300	6503	SO:0001583	missense	9737	exon3			CTTAGCCCAGAAG	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3277C>T	X.37:g.101912118C>T	ENSP00000355146:p.Pro1093Ser	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	245	145	0.591837	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	168	0.10126582278481013	65	0.14772727272727273	7	0.020114942528735632	41	0.0762081784386617	4	0.005291005291005291	C	1.907	-0.451569	0.04572	0.191656	0.00327	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	2.84	0.79	0.18613	.	.	.	.	.	T	0.00012	0.0000	L	0.33485	1.01	0.80722	P	0.0	B	0.22346	0.068	B	0.15870	0.014	T	0.42068	-0.9473	8	0.40728	T	0.16	0.0	4.3522	0.11160	0.2628:0.4836:0.2536:0.0	rs2235804;rs2235804	1093	Q5JY77	GASP1_HUMAN	S	1093	ENSP00000393691:P1093S;ENSP00000409420:P1093S;ENSP00000355146:P1093S;ENSP00000445683:P1093S	ENSP00000355146:P1093S	P	+	1	0	GPRASP1	101798774	0.000000	0.05858	0.006000	0.13384	0.851000	0.48451	-1.173000	0.03108	0.084000	0.17077	0.284000	0.19432	CCA	C|0.895;T|0.105	0.105	strong		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		T	101912118	C	T	101912118	3	4	22	1	0	0	0	0	1	0	0	0	6722	623	22	2	3279	2	GPRASP1	23	101912118	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1000053	101912118	53358442	11234	16342										
GPRASP1	9737	hgsc.bcm.edu	37	chrX	101912465	101912465	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaccttgcttaattatccGtcctcccgagttagaacaag	7	11	0	1	rs1124050	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101912465G>T	ENST00000361600.5	+	5	4425	c.3624G>T	c.(3622-3624)ccG>ccT	p.P1208P	GPRASP1_ENST00000537097.1_Silent_p.P1208P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.P1208P|GPRASP1_ENST00000444152.1_Silent_p.P1208P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1208	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAATTATCCGTCCTCCCGAG	0.383													G|||	50	0.013245	0.0371	0.0014	3775	,	,		15018	0.0		0.0	False		,,,				2504	0.0				p.P1208P		Atlas-SNP	.											.	GPRASP1	140	.	0			c.G3624T						PASS	.	G	,,,,	148,3687		2,116,28,1514,543	103	93	97		3624,3624,3624,,3624	-5.8	0.1	X	dbSNP_86	97	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	,,,,	2,116,28,3942,2415	TT,TG,T,GG,G		0.0,3.8592,1.4011	,,,,	1208/1396,1208/1396,1208/1396,,1208/1396	101912465	148,10415	2203	4300	6503	SO:0001819	synonymous_variant	9737	exon3			TTATCCGTCCTCC	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3624G>T	X.37:g.101912465G>T		Somatic	280	1	0.00357143		WXS	Illumina HiSeq	Phase_I	293	107	0.365188	NM_001099411	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																			0|0.003;A|0.000;G|0.981;T|0.016	0.016	strong		0.383	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		T	101912465	G	T	101912465	2	4	22	1	0	0	0	0	0	0	0	1	6722	1132	40	4		4	GPRASP1	23	101912465	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	347	101912465	53358095	11235	16343										
GPRASP2	114928	hgsc.bcm.edu	37	chrX	101970172	101970183	+	In_Frame_Del	DEL	GGCCCAGGCATG	GGCCCAGGCATG	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggagcaaggcccaaggatgaGgcccaggcatgggcccagag					rs61097741|rs538885190		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GGCCCAGGCATG	GGCCCAGGCATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101970172_101970183delGGCCCAGGCATG	ENST00000535209.1	+	4	1206_1217	c.375_386delGGCCCAGGCATG	c.(373-387)gaggcccaggcatgg>gag	p.AQAW126del	GPRASP2_ENST00000543253.1_In_Frame_Del_p.AQAW126del|GPRASP2_ENST00000332262.5_In_Frame_Del_p.AQAW126del			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	126						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCAAGGATGAGGCCCAGGCATGGGCCCAGAGT	0.58														34	0.00900662	0.0257	0.0	3775	,	,		16957	0.0		0.0	False		,,,				2504	0.0				p.125_129del		Pindel	.											.	GPRASP2	89	.	0			c.374_385del						PASS	.		,,,,,	82,3637		5,65,7,1522,528					,,,,,	3.6	0.4		dbSNP_129	99	5,6479		1,2,1,2354,1769	no	coding,coding,coding,coding,coding,coding	GPRASP2,ARMCX5-GPRASP2	NM_138437.5,NM_001199818.1,NM_001184876.2,NM_001184875.2,NM_001184874.2,NM_001004051.3	,,,,,	6,67,8,3876,2297	A1A1,A1R,A1,RR,R		0.0771,2.2049,0.8527	,,,,,	,,,,,		87,10116				SO:0001651	inframe_deletion	114928	exon4			.	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.375_386delGGCCCAGGCATG	X.37:g.101970172_101970183delGGCCCAGGCATG	ENSP00000437394:p.Ala126_Trp129del	Somatic	90	.	.		WXS	Illumina HiSeq	Phase_I	82	38	0.463	NM_138437	D3DXA0|Q8NAB4	In_Frame_Del	DEL	ENST00000535209.1	37	CCDS14501.1																																																																																			.	.	none		0.58	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		-	101970183	GGCCCAGGCATG	-	101970172	7	5	22	1	0	1	0	1	0	0	0	0	6723	991	35	0	377	0	GPRASP2	23	101970172	In_Frame_Del	DEL	GGCCCAGGCATG	TCGA-G8-6324-01A-11D-2210-10	57707	101970172	53300388	11236	16344										
GPRASP2	114928	hgsc.bcm.edu	37	chrX	101970662	101970662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggatctgaggatgaggccAgcaacccattctccttctgg	11	12	3	2	rs113336462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101970662A>G	ENST00000535209.1	+	4	1696	c.865A>G	c.(865-867)Agc>Ggc	p.S289G	GPRASP2_ENST00000543253.1_Missense_Mutation_p.S289G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S289G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	289						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGATGAGGCCAGCAACCCATT	0.507													.|||	50	0.013245	0.0371	0.0014	3775	,	,		14521	0.0		0.0	False		,,,				2504	0.0				p.S289G		Atlas-SNP	.											.	GPRASP2	89	.	0			c.A865G						PASS	.	G	GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER	148,3687		2,116,28,1514,543	112	111	112		865,865,865,865,865,865	1.3	0	X	dbSNP_132	112	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense,missense,missense	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	56,56,56,56,56,56	2,116,28,3942,2415	GG,GA,G,AA,A		0.0,3.8592,1.4011	benign,benign,benign,benign,benign,benign	289/839,289/839,289/839,289/839,289/839,289/839	101970662	148,10415	2203	4300	6503	SO:0001583	missense	114928	exon4			GAGGCCAGCAACC	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.865A>G	X.37:g.101970662A>G	ENSP00000437394:p.Ser289Gly	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	157	64	0.407643	NM_138437	D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	15	0.009041591320072333	11	0.022727272727272728	0	0.0	0	0.0	0	0.0	G	0.001	-3.165628	0.00028	0.038592	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.06218	3.33;3.33;3.33	4.2	1.33	0.21861	.	0.304465	0.24078	N	0.041755	T	0.00524	0.0017	N	0.02539	-0.55	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	10	0.22706	T	0.39	-0.1711	4.5595	0.12152	0.2852:0.0:0.5594:0.1554	.	289	Q96D09	GASP2_HUMAN	G	289	ENSP00000437872:S289G;ENSP00000437394:S289G;ENSP00000339057:S289G	ENSP00000339057:S289G	S	+	1	0	GPRASP2	101857318	0.826000	0.29277	0.037000	0.18230	0.001000	0.01503	0.260000	0.18424	-0.074000	0.12820	-0.834000	0.03071	AGC	A|0.986;G|0.014	0.014	strong		0.507	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101970662	A	G	101970662	3	3	22	1	0	0	0	0	1	0	0	0	6723	188	7	3	867	3	GPRASP2	23	101970662	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	490	101970662	53299898	11237	16345										
GPRASP2	114928	hgsc.bcm.edu	37	chrX	101970877	101970877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacaaagaagatcctaatacTgccttgaaactcagggccca	8	11	1	3	rs113906002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101970877T>C	ENST00000535209.1	+	4	1911	c.1080T>C	c.(1078-1080)acT>acC	p.T360T	GPRASP2_ENST00000543253.1_Silent_p.T360T|GPRASP2_ENST00000332262.5_Silent_p.T360T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	360						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCCTAATACTGCCTTGAAAC	0.463													.|||	50	0.013245	0.0371	0.0014	3775	,	,		14732	0.0		0.0	False		,,,				2504	0.0				p.T360T		Atlas-SNP	.											.	GPRASP2	89	.	0			c.T1080C						PASS	.	C	,,,,,	148,3687		2,116,28,1514,543	90	84	86		1080,1080,1080,1080,1080,1080	0.1	0	X	dbSNP_132	86	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	,,,,,	2,116,28,3942,2415	CC,CT,C,TT,T		0.0,3.8592,1.4011	,,,,,	360/839,360/839,360/839,360/839,360/839,360/839	101970877	148,10415	2203	4300	6503	SO:0001819	synonymous_variant	114928	exon4			TAATACTGCCTTG	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1080T>C	X.37:g.101970877T>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	113	38	0.336283	NM_138437	D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	CCDS14501.1																																																																																			T|0.986;C|0.014	0.014	strong		0.463	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		C	101970877	T	C	101970877	2	2	22	1	0	0	0	0	0	0	0	1	6723	1567	55	3		3	GPRASP2	23	101970877	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	215	101970877	53299683	11238	16346										
GPRASP2	114928	hgsc.bcm.edu	37	chrX	101971960	101971960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgattgccaactatatgtcCgggtttctctccttattaac	6	11	1	1	rs112000579	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:101971960C>T	ENST00000535209.1	+	4	2994	c.2163C>T	c.(2161-2163)tcC>tcT	p.S721S	GPRASP2_ENST00000543253.1_Silent_p.S721S|GPRASP2_ENST00000332262.5_Silent_p.S721S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	721						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ACTATATGTCCGGGTTTCTCT	0.418													.|||	60	0.015894	0.0378	0.0014	3775	,	,		13898	0.0		0.007	False		,,,				2504	0.002				p.S721S		Atlas-SNP	.											.	GPRASP2	89	.	0			c.C2163T						PASS	.	C	,,,,,	148,3687		2,116,28,1514,543	105	94	98		2163,2163,2163,2163,2163,2163	-3.7	0.4	X	dbSNP_132	98	62,6666		0,50,12,2378,1860	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	,,,,,	2,166,40,3892,2403	TT,TC,T,CC,C		0.9215,3.8592,1.9881	,,,,,	721/839,721/839,721/839,721/839,721/839,721/839	101971960	210,10353	2203	4300	6503	SO:0001819	synonymous_variant	114928	exon4			TATGTCCGGGTTT	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2163C>T	X.37:g.101971960C>T		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	274	93	0.339416	NM_138437	D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	CCDS14501.1																																																																																			C|0.981;T|0.019	0.019	strong		0.418	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		T	101971960	C	T	101971960	2	4	22	1	0	0	0	0	0	0	0	1	6723	639	23	1		1	GPRASP2	23	101971960	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1083	101971960	53298600	11239	16347										
BHLHB9	80823	hgsc.bcm.edu	37	chrX	102004046	102004046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggcctgtagccaagaccagGgccaaagcaaaagccaagac	11	12	0	2	rs17003869	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102004046G>A	ENST00000372735.1	+	4	708	c.123G>A	c.(121-123)agG>agA	p.R41R	BHLHB9_ENST00000361229.4_Silent_p.R41R|BHLHB9_ENST00000457056.1_Silent_p.R41R|BHLHB9_ENST00000447531.1_Silent_p.R41R|BHLHB9_ENST00000448867.1_Silent_p.R41R			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	41					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAAGACCAGGGCCAAAGCAA	0.502													G|||	50	0.013245	0.0371	0.0014	3775	,	,		15788	0.0		0.0	False		,,,				2504	0.0				p.R41R		Atlas-SNP	.											.	BHLHB9	60	.	0			c.G123A						PASS	.	G	,,,,,,,	149,3686		2,117,28,1513,543	120	102	108		123,123,123,123,123,123,123,123	-3.2	0	X	dbSNP_123	108	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	,,,,,,,	2,117,28,3941,2415	AA,AG,A,GG,G		0.0,3.8853,1.4106	,,,,,,,	41/548,41/548,41/548,41/548,41/548,41/548,41/548,41/548	102004046	149,10414	2203	4300	6503	SO:0001819	synonymous_variant	80823	exon2			GACCAGGGCCAAA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.123G>A	X.37:g.102004046G>A		Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	412	145	0.351942	NM_001142530	Q9C0G2	Silent	SNP	ENST00000372735.1	37	CCDS14502.1																																																																																			0|0.003;A|0.015	0.015	strong		0.502	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102004046	G	A	102004046	2	1	22	1	0	0	0	0	0	0	0	1	1420	1223	43	2		2	BHLHB9	23	102004046	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	32086	102004046	53266514	11240	16348										
BHLHB9	80823	hgsc.bcm.edu	37	chrX	102005371	102005371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcagccagagacatgatcaAtatgaaggcattggcagcat	11	8	1	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102005371A>T	ENST00000372735.1	+	4	2033	c.1448A>T	c.(1447-1449)aAt>aTt	p.N483I	BHLHB9_ENST00000447531.1_Missense_Mutation_p.N483I|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N483I|BHLHB9_ENST00000448867.1_Missense_Mutation_p.N483I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N483I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	483					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACATGATCAATATGAAGGCA	0.363																																					p.N483I		Atlas-SNP	.											.	BHLHB9	60	.	0			c.A1448T						PASS	.						120	119	119					X																	102005371		2203	4300	6503	SO:0001583	missense	80823	exon2			TGATCAATATGAA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1448A>T	X.37:g.102005371A>T	ENSP00000361820:p.Asn483Ile	Somatic	438	0	0		WXS	Illumina HiSeq	Phase_I	429	59	0.137529	NM_001142530	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240331	0.39598	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	4.24	1.84	0.25277	Armadillo-like helical (1);Armadillo-type fold (1);	0.647734	0.13738	N	0.366174	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.57101	0.813	T	0.08411	-1.0723	9	.	.	.	-29.9634	5.1019	0.14764	0.7516:0.0:0.2484:0.0	.	483	Q6PI77	BHLH9_HUMAN	I	483	ENSP00000403226:N483I;ENSP00000354675:N483I;ENSP00000405893:N483I;ENSP00000391722:N483I;ENSP00000361820:N483I	.	N	+	2	0	BHLHB9	101892027	0.006000	0.16342	0.005000	0.12908	0.995000	0.86356	0.712000	0.25779	0.262000	0.21774	0.339000	0.21740	AAT	.	.	none		0.363	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102005371	A	T	102005371	3	4	22	1	0	0	0	0	1	0	0	0	1420	101	4	5	1450	5	BHLHB9	23	102005371	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1325	102005371	53265189	11241	16349										
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192301	102192301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcctgctcaagttcctgCtggtgggcgacagggacgta	13	11	1	0	rs34191945	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192301C>T	ENST00000218249.5	+	1	102	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	19					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAAGTTCCTGCTGGTGGGCGA	0.672													.|||	863	0.228609	0.3154	0.0648	3775	,	,		10089	0.1171		0.005	False		,,,				2504	0.2843				p.L19L		Atlas-SNP	.											.	RAB40AL	33	.	0			c.C55T						PASS	.	T		1374,2461		201,760,212,671,359	45	56	52		55	0	0.8	X	dbSNP_126	52	36,6692		0,28,8,2400,1864	no	coding-synonymous	RAB40AL	NM_001031834.1		201,788,220,3071,2223	TT,TC,T,CC,C		0.5351,35.8279,13.3485		19/279	102192301	1410,9153	2203	4300	6503	SO:0001819	synonymous_variant	282808	exon1			TTCCTGCTGGTGG	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.55C>T	X.37:g.102192301C>T		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	253	252	0.996047	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			C|0.858;T|0.142	0.142	strong		0.672	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		T	102192301	C	T	102192301	2	4	22	1	0	0	0	0	0	0	0	1	12940	796	28	2		2	RAB40AL	23	102192301	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	186930	102192301	53078259	11242	16350			40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192315	102192315	+	Missense_Mutation	SNP	G	G	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcctgctggtgggcgacagGgacgtaggcaagagtgagat					rs61745030	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192315G>C	ENST00000218249.5	+	1	116	c.69G>C	c.(67-69)agG>agC	p.R23S	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	23					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TGGGCGACAGGGACGTAGGCA	0.677													.|||	989	0.261987	0.4085	0.0677	3775	,	,		9895	0.1171		0.005	False		,,,				2504	0.2853				p.R23S		Atlas-SNP	.											.	RAB40AL	33	.	0			c.G69C						PASS	.	C	SER/ARG	1646,2189		331,710,274,591,297	48	64	59		69	0	0.5	X	dbSNP_129	59	31,6697		0,24,7,2404,1865	yes	missense	RAB40AL	NM_001031834.1	110	331,734,281,2995,2162	CC,CG,C,GG,G		0.4608,42.9205,15.8762	benign	23/279	102192315	1677,8886	2203	4300	6503	SO:0001583	missense	282808	exon1			CGACAGGGACGTA	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.69G>C	X.37:g.102192315G>C	ENSP00000218249:p.Arg23Ser	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	256	254	0.992188	NM_001031834	Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	CCDS35353.1	286	0.1723930078360458	142	0.3837837837837838	11	0.03142857142857143	47	0.08801498127340825	3	0.00395778364116095	.	0.050	-1.253647	0.01457	0.429205	0.004608	ENSG00000102128	ENST00000218249	T	0.74737	-0.87	0.99	-0.00522	0.14018	Small GTP-binding protein domain (1);	0.000000	0.56097	N	0.000031	T	0.00012	0.0000	N	0.00037	-2.53	0.51233	P	8.399999999997299E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.30297	-0.9983	9	0.02654	T	1	.	2.6358	0.04957	0.0:0.3265:0.2617:0.4118	rs61745030	23	P0C0E4	RB40L_HUMAN	S	23	ENSP00000218249:R23S	ENSP00000218249:R23S	R	+	3	2	RAB40AL	102078971	0.997000	0.39634	0.473000	0.27253	0.038000	0.13279	0.197000	0.17197	-0.599000	0.05798	-0.355000	0.07637	AGG	G|0.821;C|0.179	0.179	strong		0.677	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		C	102192315	G	C	102192315	3	2	22	1	0	0	0	0	1	0	0	0	12940	1223	43	4	71	4	RAB40AL	23	102192315	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	14	102192315	53078245	11243	16351	354	4	40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192321	102192321	+	Silent	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctggtgggcgacagggacgtAggcaagagtgagatcctgga					rs61745027	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192321A>G	ENST00000218249.5	+	1	122	c.75A>G	c.(73-75)gtA>gtG	p.V25V	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	25					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACAGGGACGTAGGCAAGAGTG	0.677													.|||	995	0.263576	0.4123	0.0692	3775	,	,		9952	0.1171		0.005	False		,,,				2504	0.2853				p.V25V		Atlas-SNP	.											.	RAB40AL	33	.	0			c.A75G						PASS	.	G		1452,2377		316,553,267,762,300	51	69	63		75	0.8	0.4	X	dbSNP_129	63	26,6701		0,20,6,2408,1865	no	coding-synonymous	RAB40AL	NM_001031834.1		316,573,273,3170,2165	GG,GA,G,AA,A		0.3865,37.9211,14.0015		25/279	102192321	1478,9078	2198	4299	6497	SO:0001819	synonymous_variant	282808	exon1			GGACGTAGGCAAG	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.75A>G	X.37:g.102192321A>G		Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	259	258	0.996139	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			A|0.824;G|0.176	0.176	strong		0.677	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		G	102192321	A	G	102192321	2	3	22	1	0	0	0	0	0	0	0	1	12940	407	15	3		3	RAB40AL	23	102192321	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	6	102192321	53078239	11244	16352	354	4	40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192328	102192328	+	Missense_Mutation	SNP	A	A	G													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgacagggacgtaggcaagAgtgagatcctggagagcctg					rs386826706|rs61745026	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192328A>G	ENST00000218249.5	+	1	129	c.82A>G	c.(82-84)Agt>Ggt	p.S28G	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	28					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CGTAGGCAAGAGTGAGATCCT	0.672													.|||	989	0.261987	0.4085	0.0677	3775	,	,		9977	0.1171		0.005	False		,,,				2504	0.2853				p.S28G		Atlas-SNP	.											.	RAB40AL	33	.	0			c.A82G						PASS	.	G	GLY/SER	1332,2501		326,411,269,895,300	55	74	67		82	1	0.3	X	dbSNP_129	67	24,6704		0,17,7,2411,1865	no	missense	RAB40AL	NM_001031834.1	56	326,428,276,3306,2165	GG,GA,G,AA,A		0.3567,34.7508,12.8397	benign	28/279	102192328	1356,9205	2201	4300	6501	SO:0001583	missense	282808	exon1			GGCAAGAGTGAGA	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.82A>G	X.37:g.102192328A>G	ENSP00000218249:p.Ser28Gly	Somatic	340	0	0		WXS	Illumina HiSeq	Phase_I	280	279	0.996429	NM_001031834	Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	CCDS35353.1	264	0.15913200723327306	133	0.35561497326203206	11	0.03089887640449438	40	0.0749063670411985	3	0.00395778364116095	.	0.956	-0.704854	0.03255	0.347508	0.003567	ENSG00000102128	ENST00000218249	D	0.86497	-2.13	0.99	0.99	0.19807	Small GTP-binding protein domain (1);	0.000000	0.47852	N	0.000202	T	0.00012	0.0000	M	0.85542	2.76	0.51482	P	7.299999999998974E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	9	0.16896	T	0.51	.	5.2814	0.15678	0.2323:0.0:0.7677:0.0	rs61745026	28	P0C0E4	RB40L_HUMAN	G	28	ENSP00000218249:S28G	ENSP00000218249:S28G	S	+	1	0	RAB40AL	102078984	1.000000	0.71417	0.324000	0.25361	0.013000	0.08279	3.381000	0.52455	-0.028000	0.13850	-0.354000	0.07668	AGT	A|0.823;G|0.177	0.177	strong		0.672	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		G	102192328	A	G	102192328	3	3	22	1	0	0	0	0	1	0	0	0	12940	304	11	3	84	3	RAB40AL	23	102192328	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	7	102192328	53078232	11245	16353	354	4	40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192330	102192330	+	Silent	SNP	T	T	C													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacagggacgtaggcaagagTgagatcctggagagcctgca					rs386826706|rs61745025	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192330T>C	ENST00000218249.5	+	1	131	c.84T>C	c.(82-84)agT>agC	p.S28S	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	28					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TAGGCAAGAGTGAGATCCTGG	0.672													.|||	989	0.261987	0.4085	0.0677	3775	,	,		10110	0.1171		0.005	False		,,,				2504	0.2853				p.S28S		Atlas-SNP	.											.	RAB40AL	33	.	0			c.T84C						PASS	.	C		1501,2333		328,575,270,729,300	56	74	68		84	-2	0.3	X	dbSNP_129	68	31,6697		0,23,8,2405,1864	no	coding-synonymous	RAB40AL	NM_001031834.1		328,598,278,3134,2164	CC,CT,C,TT,T		0.4608,39.1497,14.5048		28/279	102192330	1532,9030	2202	4300	6502	SO:0001819	synonymous_variant	282808	exon1			CAAGAGTGAGATC	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.84T>C	X.37:g.102192330T>C		Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	279	278	0.996416	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			T|0.823;C|0.177	0.177	strong		0.672	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		C	102192330	T	C	102192330	2	2	22	1	0	0	0	0	0	0	0	1	12940	1693	59	2		2	RAB40AL	23	102192330	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2	102192330	53078230	11246	16354	354	4	40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192372	102192372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacggcacggccgagtccccGtacagtcacctggggggaat	15	13	1	0	rs61745023	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192372G>A	ENST00000218249.5	+	1	173	c.126G>A	c.(124-126)ccG>ccA	p.P42P	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	42					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CCGAGTCCCCGTACAGTCACC	0.622													.|||	67	0.0177483	0.0477	0.0058	3775	,	,		11299	0.0		0.0	False		,,,				2504	0.0				p.P42P		Atlas-SNP	.											.	RAB40AL	33	.	0			c.G126A						PASS	.	G		213,3622		4,171,34,1457,537	115	109	111		126	-1.7	0	X	dbSNP_129	111	0,6728		0,0,0,2428,1872	no	coding-synonymous	RAB40AL	NM_001031834.1		4,171,34,3885,2409	AA,AG,A,GG,G		0.0,5.5541,2.0165		42/279	102192372	213,10350	2203	4300	6503	SO:0001819	synonymous_variant	282808	exon1			GTCCCCGTACAGT	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.126G>A	X.37:g.102192372G>A		Somatic	507	0	0		WXS	Illumina HiSeq	Phase_I	455	145	0.318681	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			G|0.981;A|0.019	0.019	strong		0.622	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		A	102192372	G	A	102192372	2	1	22	1	0	0	0	0	0	0	0	1	12940	1132	40	1		1	RAB40AL	23	102192372	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	42	102192372	53078188	11247	16355			40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192693	102192693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctacgccgagcgcctgggCgtgaccttctttgaggtcag	14	13	2	2	rs150288459		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192693C>T	ENST00000218249.5	+	1	494	c.447C>T	c.(445-447)ggC>ggT	p.G149G	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	149					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AGCGCCTGGGCGTGACCTTCT	0.592																																					p.G149G		Atlas-SNP	.											.	RAB40AL	33	.	0			c.C447T						PASS	.						38	47	44					X																	102192693		2202	4300	6502	SO:0001819	synonymous_variant	282808	exon1			CCTGGGCGTGACC	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.447C>T	X.37:g.102192693C>T		Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	93	90	0.967742	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			C|0.500;T|0.500	0.500	strong		0.592	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		T	102192693	C	T	102192693	2	4	22	1	0	0	0	0	0	0	0	1	12940	755	27	1		1	RAB40AL	23	102192693	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	321	102192693	53077867	11248	16356			40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
RAB40AL	282808	hgsc.bcm.edu	37	chrX	102192885	102192885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	catctggtggacaagctcccGctccccattgccttaagaag	9	14	1	1	rs7876193	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102192885G>A	ENST00000218249.5	+	1	686	c.639G>A	c.(637-639)ccG>ccA	p.P213P	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	213	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACAAGCTCCCGCTCCCCATTG	0.592													.|||	68	0.0180132	0.0477	0.0058	3775	,	,		13822	0.0		0.0	False		,,,				2504	0.001				p.P213P		Atlas-SNP	.											.	RAB40AL	33	.	0			c.G639A						PASS	.	G		213,3622		4,171,34,1457,537	145	117	127		639	-0.3	0.4	X	dbSNP_116	127	0,6728		0,0,0,2428,1872	no	coding-synonymous	RAB40AL	NM_001031834.1		4,171,34,3885,2409	AA,AG,A,GG,G		0.0,5.5541,2.0165		213/279	102192885	213,10350	2203	4300	6503	SO:0001819	synonymous_variant	282808	exon1			GCTCCCGCTCCCC	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.639G>A	X.37:g.102192885G>A		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	310	111	0.358065	NM_001031834	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			G|0.981;A|0.019	0.019	strong		0.592	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		A	102192885	G	A	102192885	2	1	22	1	0	0	0	0	0	0	0	1	12940	1074	38	1		1	RAB40AL	23	102192885	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	192	102192885	53077675	11249	16357			40	69	51841519	8	5	585	N	T_G_C_A	6.600178e-05
TCEAL5	340543	hgsc.bcm.edu	37	chrX	102529190	102529190	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgggcgcttttcggcggccCgcggctggctctctggcttg	16	15	1	0	rs6621640	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102529190C>G	ENST00000372680.1	-	3	596	c.302G>C	c.(301-303)cGg>cCg	p.R101P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCGGCGGCCCGCGGCTGGCT	0.597													C||||C|||	556|556	0.147285|0.147285	0.2867|0.2867	0.0504|0.0504	3775|3775	,|,	,|,		11271|11271	0.1091|0.1091		0.008|0.008	False|False		,,,|,,,				2504|2504	0.0245|0.0245				p.R101P		Atlas-SNP	.											.	TCEAL5	28	.	0			c.G302C						PASS	.	C	PRO/ARG	1306,2528		250,614,192,768,378	76	85	82		302	-1.1	0	X	dbSNP_116	82	81,6647		2,55,22,2371,1850	no	missense	TCEAL5	NM_001012979.2	103	252,669,214,3139,2228	GG,GC,G,CC,C		1.2039,34.0636,13.132	probably-damaging	101/207	102529190	1387,9175	2202	4300	6502	SO:0001583	missense	340543	exon3			GCGGCCCGCGGCT		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.302G>C	X.37:g.102529190C>G	ENSP00000361765:p.Arg101Pro	Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	349	205	0.587393	NM_001012979	A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	CCDS35356.1	223	0.13441832429174203	107	0.25970873786407767	14	0.040229885057471264	31	0.05762081784386617	5	0.006631299734748011	C	18.09	3.547358	0.65311	0.340636	0.012039	ENSG00000204065	ENST00000372680	T	0.26660	1.72	2.93	-1.09	0.09904	.	0.000000	0.33534	N	0.004804	T	0.00012	0.0000	M	0.71581	2.175	0.80722	P	0.0	D	0.89917	1.0	D	0.76071	0.987	T	0.21552	-1.0242	9	0.49607	T	0.09	.	2.6606	0.05026	0.2162:0.3639:0.0:0.4199	rs6621640	101	Q5H9L2	TCAL5_HUMAN	P	101	ENSP00000361765:R101P	ENSP00000361765:R101P	R	-	2	0	TCEAL5	102415846	0.000000	0.05858	0.000000	0.03702	0.886000	0.51366	-0.535000	0.06142	-0.424000	0.07382	0.292000	0.19580	CGG	C|0.861;G|0.139	0.139	strong		0.597	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		G	102529190	C	G	102529190	3	3	22	1	0	0	0	0	1	0	0	0	15671	652	23	4	322	4	TCEAL5	23	102529190	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	336305	102529190	52741370	11250	16358										
TCEAL3	85012	hgsc.bcm.edu	37	chrX	102864251	102864251	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcgagggcaagccagcctccCaggcaaagccagagagccag	14	14	0	1	rs12009847	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102864251C>G	ENST00000372628.1	+	3	617	c.259C>G	c.(259-261)Cag>Gag	p.Q87E	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.Q87E|TCEAL3_ENST00000372627.5_Missense_Mutation_p.Q87E			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	87			Q -> E (in dbSNP:rs12009847).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GCCAGCCTCCCAGGCAAAGCC	0.617													C|||	235	0.0622517	0.1679	0.0173	3775	,	,		11795	0.0		0.001	False		,,,				2504	0.0				p.Q87E		Atlas-SNP	.											.	TCEAL3	24	.	0			c.C259G						PASS	.	C	GLU/GLN,GLU/GLN	702,3133		56,485,105,1091,466	97	92	94		259,259	2.3	0.2	X	dbSNP_120	94	6,6722		0,5,1,2423,1871	no	missense,missense	TCEAL3	NM_001006933.1,NM_032926.2	29,29	56,490,106,3514,2337	GG,GC,G,CC,C		0.0892,18.3051,6.7026	benign,benign	87/201,87/201	102864251	708,9855	2203	4300	6503	SO:0001583	missense	85012	exon3			GCCTCCCAGGCAA	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.259C>G	X.37:g.102864251C>G	ENSP00000361711:p.Gln87Glu	Somatic	379	1	0.00263852		WXS	Illumina HiSeq	Phase_I	389	379	0.974293	NM_001006933	D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	CCDS14511.1	84	0.05063291139240506	50	0.11682242990654206	2	0.0055248618784530384	0	0.0	0	0.0	C	0.004	-2.241804	0.00274	0.183051	8.92E-4	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.21361	2.01;2.01;2.01	4.18	2.34	0.29019	.	0.536654	0.14096	N	0.341716	T	0.00039	0.0001	N	0.16602	0.42	0.80722	P	0.0	B	0.15141	0.012	B	0.12156	0.007	T	0.33085	-0.9882	9	0.02654	T	1	.	10.3974	0.44209	0.0:0.7424:0.2576:0.0	rs12009847;rs12009847	87	Q969E4	TCAL3_HUMAN	E	87	ENSP00000361711:Q87E;ENSP00000361710:Q87E;ENSP00000243286:Q87E	ENSP00000243286:Q87E	Q	+	1	0	TCEAL3	102750907	0.890000	0.30428	0.249000	0.24280	0.183000	0.23260	1.387000	0.34430	0.496000	0.27904	0.538000	0.68166	CAG	C|0.936;G|0.064	0.064	strong		0.617	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		G	102864251	C	G	102864251	3	3	22	1	0	0	0	0	1	0	0	0	15669	595	21	4	261	4	TCEAL3	23	102864251	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	335061	102864251	52406309	11251	16359										
GLRA4	441509	hgsc.bcm.edu	37	chrX	102962343	102962343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggaggttggggactataaaTgccagaaccttccattggac	12	8	0	1	rs61744012		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102962343T>C	ENST00000372617.4	-	9	1603	c.1183A>G	c.(1183-1185)Att>Gtt	p.I395V		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	395						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGACTATAAATGCCAGAACCT	0.527													T|||	48	0.0127152	0.0348	0.0029	3775	,	,		14232	0.0		0.0	False		,,,				2504	0.0				p.I395V		Atlas-SNP	.											.	GLRA4	86	.	0			c.A1183G						PASS	.	T	VAL/ILE	94,3180		0,77,17,1275,553	105	100	102		1183	5	1	X	dbSNP_129	102	1,6426		0,1,0,2321,1783	yes	missense	GLRA4	NM_001024452.2	29	0,78,17,3596,2336	CC,CT,C,TT,T		0.0156,2.8711,0.9793	benign	395/418	102962343	95,9606	1922	4105	6027	SO:0001583	missense	441509	exon9			TATAAATGCCAGA	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1183A>G	X.37:g.102962343T>C	ENSP00000361700:p.Ile395Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	136	84	0.617647	NM_001024452		Missense_Mutation	SNP	ENST00000372617.4	37	CCDS43980.2	16	0.009644364074743821	12	0.024691358024691357	1	0.0027624309392265192	0	0.0	0	0.0	t	2.377	-0.343098	0.05243	0.028711	1.56E-4	ENSG00000188828	ENST00000372617	T	0.77877	-1.13	4.99	4.99	0.66335	.	1.027970	0.07653	N	0.932363	T	0.31263	0.0791	N	0.02539	-0.55	0.27370	N	0.955726	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	10	0.25106	T	0.35	.	9.8284	0.40925	0.0:0.0:0.0:1.0	.	395	Q5JXX5	GLRA4_HUMAN	V	395	ENSP00000361700:I395V	ENSP00000361700:I395V	I	-	1	0	GLRA4	102848999	0.380000	0.25131	0.999000	0.59377	0.987000	0.75469	0.625000	0.24477	1.844000	0.53588	0.441000	0.28932	ATT	T|0.990;C|0.010	0.010	strong		0.527	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		C	102962343	T	C	102962343	3	2	22	1	0	0	0	0	1	0	0	0	6457	1464	51	2	73	2	GLRA4	23	102962343	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	98092	102962343	52308217	11252	16360										
GLRA4	441509	hgsc.bcm.edu	37	chrX	102979184	102979184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atattctcggtaggacaggcGtgggtcattccactgttgcc	12	10	2	0	rs16984014	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:102979184G>A	ENST00000372617.4	-	4	736	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	106						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAGGACAGGCGTGGGTCATTC	0.542													G|||	280	0.0741722	0.2065	0.0101	3775	,	,		14747	0.0		0.0	False		,,,				2504	0.0				p.R106C		Atlas-SNP	.											.	GLRA4	86	.	0			c.C316T						PASS	.	G	CYS/ARG,CYS/ARG	690,2992		49,480,112,1027,458	109	107	108		316,316	5.4	1	X	dbSNP_123	108	4,6663		0,4,0,2404,1851	yes	missense,missense	GLRA4	NM_001024452.2,NM_001172285.1	180,180	49,484,112,3431,2309	AA,AG,A,GG,G		0.06,18.7398,6.706	probably-damaging,probably-damaging	106/418,106/343	102979184	694,9655	2126	4259	6385	SO:0001583	missense	441509	exon4			ACAGGCGTGGGTC	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.316C>T	X.37:g.102979184G>A	ENSP00000361700:p.Arg106Cys	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	150	98	0.653333	NM_001024452		Missense_Mutation	SNP	ENST00000372617.4	37	CCDS43980.2	105	0.06329113924050633	66	0.15865384615384615	1	0.0027624309392265192	0	0.0	0	0.0	G	24.1	4.494287	0.85069	0.187398	6.0E-4	ENSG00000188828	ENST00000372617	D	0.82344	-1.6	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.01905	0.0060	H	0.95917	3.74	0.09310	P	0.99999999821083	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.17349	-1.0372	9	0.87932	D	0	.	15.3872	0.74711	0.0:0.0:1.0:0.0	rs16984014;rs56514211;rs16984014	106;65	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	C	106	ENSP00000361700:R106C	ENSP00000361700:R106C	R	-	1	0	GLRA4	102865840	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.903000	0.87398	2.224000	0.72417	0.513000	0.50165	CGC	0|0.009;A|0.067	0.067	strong		0.542	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		A	102979184	G	A	102979184	3	1	22	1	0	0	0	0	1	0	0	0	6457	1145	40	1	1056	1	GLRA4	23	102979184	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	16841	102979184	52291376	11253	16361										
H2BFWT	158983	hgsc.bcm.edu	37	chrX	103267865	103267865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcttggtggagcgggccaggCgaccagcctcggtggcgatg	19	11	0	0	rs553509	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:103267865C>T	ENST00000217926.5	-	1	394	c.368G>A	c.(367-369)cGc>cAc	p.R123H	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	123			R -> H (in dbSNP:rs553509). {ECO:0000269|PubMed:15475252, ECO:0000269|PubMed:15489334}.			membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GCGGGCCAGGCGACCAGCCTC	0.647													.|||	2193	0.580927	0.438	0.3098	3775	,	,		13169	0.4603		0.5089	False		,,,				2504	0.4325				p.R123H		Atlas-SNP	.											.	H2BFWT	33	.	0			c.G368A						PASS	.	C	HIS/ARG	2258,1577		574,775,335,283,236	36	33	34		368	-2.7	0	X	dbSNP_83	34	4476,2251		1080,1091,1225,257,646	yes	missense	H2BFWT	NM_001002916.3	29	1654,1866,1560,540,882	TT,TC,T,CC,C		33.4622,41.1213,36.2431	benign	123/176	103267865	6734,3828	2203	4299	6502	SO:0001583	missense	158983	exon1			GCCAGGCGACCAG	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.368G>A	X.37:g.103267865C>T	ENSP00000354723:p.Arg123His	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	242	89	0.367769	NM_001002916	B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	CCDS35362.1	968	0.5834840265220012	141	0.375	88	0.32116788321167883	170	0.4146341463414634	271	0.5132575757575758	.	9.810	1.182830	0.21870	0.588787	0.665378	ENSG00000123569	ENST00000217926	T	0.27890	1.64	2.84	-2.67	0.06059	Histone-fold (2);Histone core (1);	1.333640	0.06752	U	0.780175	T	0.00012	0.0000	L	0.43598	1.365	0.80722	P	0.0	B	0.16166	0.016	B	0.17098	0.017	T	0.44143	-0.9347	9	0.62326	D	0.03	.	3.36	0.07182	0.3156:0.366:0.0:0.3184	rs553509;rs17340491;rs58833763	123	Q7Z2G1	H2BWT_HUMAN	H	123	ENSP00000354723:R123H	ENSP00000354723:R123H	R	-	2	0	H2BFWT	103154521	0.994000	0.37717	0.000000	0.03702	0.000000	0.00434	0.783000	0.26802	-0.944000	0.03686	-0.849000	0.03036	CGC	C|0.378;0|0.003	.	strong		0.647	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		T	103267865	C	T	103267865	3	4	22	1	0	0	0	0	1	0	0	0	6932	768	27	1	167	1	H2BFWT	23	103267865	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	288681	103267865	52002695	11254	16362										
ZCCHC18	644353	hgsc.bcm.edu	37	chrX	103359334	103359334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	accagactcgcttgcaacagCttcttttaggcgctgagctg	10	12	1	2	rs61745269	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:103359334C>T	ENST00000537356.3	+	2	1946	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	178							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CTTGCAACAGCTTCTTTTAGG	0.498													C|||	164	0.0434437	0.118	0.0101	3775	,	,		14288	0.0		0.001	False		,,,				2504	0.0				p.L178F		Atlas-SNP	.											.	.	.	.	0			c.C532T						PASS	.	C	,PHE/LEU	164,1045		12,119,21,386,154	40	32	35		,532	2.7	0.3	X	dbSNP_129	35	1,2390		0,1,0,799,791	yes	intron,missense	MCART6,ZCCHC18	NM_001012755.3,NM_001143978.1	,22	12,120,21,1185,945	TT,TC,T,CC,C		0.0418,13.5649,4.5833	,benign	,178/404	103359334	165,3435	692	1591	2283	SO:0001583	missense	644353	exon3			CAACAGCTTCTTT	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.532C>T	X.37:g.103359334C>T	ENSP00000473824:p.Leu178Phe	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	259	148	0.571429	NM_001143978		Missense_Mutation	SNP	ENST00000537356.3	37																																																																																				C|0.962;T|0.038	0.038	strong		0.498	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		T	103359334	C	T	103359334	3	4	22	1	0	0	0	0	1	0	0	0	17583	797	28	2	534	2	ZCCHC18	23	103359334	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	91469	103359334	51911226	11255	16363										
ESX1	80712	hgsc.bcm.edu	37	chrX	103495007	103495007	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cacatgtgacctgggtggcaGaggcgccatgggcggcccgg	18	12	0	2	rs78191648	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:103495007G>C	ENST00000372588.4	-	4	1206	c.1123C>G	c.(1123-1125)Ctg>Gtg	p.L375V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	375	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGGGTGGCAGAGGCGCCATG	0.667													T|||	187	0.0495364	0.1346	0.0101	3775	,	,		7462	0.0		0.001	False		,,,				2504	0.001				p.L375V	Pancreas(200;1705 2227 25194 28471 45274)	Atlas-SNP	.											.	ESX1	57	.	0			c.C1123G						PASS	.	T	VAL/LEU	553,3282		42,388,81,1202,490	36	34	35		1123	-8.3	0	X	dbSNP_131	35	7,6721		0,7,0,2421,1872	yes	missense	ESX1	NM_153448.3	32	42,395,81,3623,2362	CC,CG,C,GG,G		0.104,14.4198,5.3015	benign	375/407	103495007	560,10003	2203	4300	6503	SO:0001583	missense	80712	exon4			GTGGCAGAGGCGC	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1123C>G	X.37:g.103495007G>C	ENSP00000361669:p.Leu375Val	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	53	29	0.54717	NM_153448	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	CCDS14516.1	75	0.045207956600361664	55	0.1206140350877193	1	0.002777777777777778	0	0.0	0	0.0	T	0.004	-2.247286	0.00271	0.144198	0.00104	ENSG00000123576	ENST00000372588	T	0.73152	-0.72	4.14	-8.28	0.01013	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10706	-1.0618	8	0.42905	T	0.14	0.5915	7.4597	0.27287	0.1697:0.6473:0.0849:0.0981	.	375	Q8N693	ESX1_HUMAN	V	375	ENSP00000361669:L375V	ENSP00000361669:L375V	L	-	1	2	ESX1	103381663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.954000	0.00166	-3.304000	0.00192	-2.542000	0.00179	CTG	G|0.948;C|0.052	0.052	strong		0.667	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		C	103495007	G	C	103495007	3	2	22	1	0	0	0	0	1	0	0	0	5263	933	33	4	101	4	ESX1	23	103495007	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	135673	103495007	51775553	11256	16364										
TEX13A	56157	hgsc.bcm.edu	37	chrX	104464674	104464674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctctctttctgcacctccacGaggctggtctgggccattct	9	15	4	0	rs183606927		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:104464674G>A	ENST00000413579.1	-	2	519	c.408C>T	c.(406-408)ctC>ctT	p.L136L	TEX13A_ENST00000372575.1_Silent_p.L136L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Silent_p.L136L|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	136							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCACCTCCACGAGGCTGGTCT	0.607													G|||	61	0.0161589	0.0363	0.0072	3775	,	,		11953	0.0		0.003	False		,,,				2504	0.0051				p.L136L		Atlas-SNP	.											.	TEX13A	55	.	0			c.C408T						PASS	.	G	,	245,3427		5,188,47,1358,523	36	36	36		,408	-0.1	0	X		36	4,6586		0,1,3,2385,1815	no	intron,coding-synonymous	IL1RAPL2,TEX13A	NM_017416.1,NM_031274.3	,	5,189,50,3743,2338	AA,AG,A,GG,G		0.0607,6.6721,2.4264	,	,136/410	104464674	249,10013	2121	4204	6325	SO:0001819	synonymous_variant	56157	exon2			CTCCACGAGGCTG	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.408C>T	X.37:g.104464674G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	80	25	0.3125	NM_031274	B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																				G|0.992;A|0.008	0.008	strong		0.607	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104464674	G	A	104464674	2	1	22	1	0	0	0	0	0	0	0	1	15773	1045	37	1		1	TEX13A	23	104464674	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	969667	104464674	50805886	11257	16365										
IL1RAPL2	26280	hgsc.bcm.edu	37	chrX	104992963	104992963	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcgctccagatttaatctaTaaaattgagcttgcaggggg	10	7	1	2	rs3764765	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:104992963T>C	ENST00000372582.1	+	9	1815	c.1059T>C	c.(1057-1059)taT>taC	p.Y353Y	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.Y353Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	353					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTTAATCTATAAAATTGAGC	0.383													C|||	826	0.218808	0.1687	0.0591	3775	,	,		11961	0.2351		0.0805	False		,,,				2504	0.2495				p.Y353Y		Atlas-SNP	.											.	IL1RAPL2	105	.	0			c.T1059C						PASS	.	C		771,3064		73,513,112,1046,459	86	77	80		1059	5	1	X	dbSNP_107	80	606,6122		24,379,179,2025,1693	no	coding-synonymous	IL1RAPL2	NM_017416.1		97,892,291,3071,2152	CC,CT,C,TT,T		9.0071,20.1043,13.0361		353/687	104992963	1377,9186	2203	4300	6503	SO:0001819	synonymous_variant	26280	exon9			AATCTATAAAATT	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1059T>C	X.37:g.104992963T>C		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	299	100	0.334448	NM_017416	Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	CCDS14517.1																																																																																			T|0.833;C|0.167	0.167	strong		0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		C	104992963	T	C	104992963	2	2	22	1	0	0	0	0	0	0	0	1	7662	1413	49	2		2	IL1RAPL2	23	104992963	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	528289	104992963	50277597	11258	16366										
NRK	203447	hgsc.bcm.edu	37	chrX	105152282	105152282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctattaaggaacagtacaccGtgagaagattcaggtgcgtt	11	7	1	2	rs209373	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:105152282G>A	ENST00000243300.9	+	12	1375	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	NRK_ENST00000428173.2_Missense_Mutation_p.V359M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	358			V -> M (in dbSNP:rs209373). {ECO:0000269|PubMed:17344846}.		activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAGTACACCGTGAGAAGATT	0.353										HNSCC(51;0.14)			A|||	1404	0.371921	0.5567	0.1441	3775	,	,		14623	0.1796		0.168	False		,,,				2504	0.2229				p.V358M		Atlas-SNP	.											.	NRK	321	.	0			c.G1072A						PASS	.	A	MET/VAL	1890,1045		518,533,321,171,170	45	39	41		1072	1.8	0	X	dbSNP_79	41	1294,4681		129,677,359,1402,1200	yes	missense	NRK	NM_198465.2	21	647,1210,680,1573,1370	AA,AG,A,GG,G		21.6569,35.6048,35.7351	benign	358/1583	105152282	3184,5726	1713	3767	5480	SO:0001583	missense	203447	exon12			TACACCGTGAGAA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1072G>A	X.37:g.105152282G>A	ENSP00000434830:p.Val358Met	Somatic	449	0	0		WXS	Illumina HiSeq	Phase_I	444	444	1	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		522	0.31464737793851716	192	0.6	38	0.11377245508982035	54	0.10344827586206896	82	0.11781609195402298	A	0.017	-1.498128	0.01001	0.643952	0.216569	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76839	1.81;-1.05	4.2	1.83	0.25207	Protein kinase-like domain (1);	1.004370	0.08017	N	0.991435	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45673	-0.9245	9	0.30854	T	0.27	.	5.7859	0.18333	0.6408:0.0:0.3592:0.0	rs209373;rs615456;rs52833891;rs60442877;rs209373	26;358	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	M	358;359	ENSP00000434830:V358M;ENSP00000438378:V359M	ENSP00000434830:V358M	V	+	1	0	NRK	105038938	0.025000	0.19082	0.042000	0.18584	0.980000	0.70556	1.472000	0.35376	-0.013000	0.14199	-0.314000	0.08810	GTG	0|0.030;A|0.341	0.341	strong		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105152282	G	A	105152282	3	1	22	1	0	0	0	0	1	0	0	0	10655	1145	40	1	1118	1	NRK	23	105152282	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	159319	105152282	50118278	11259	16367										
NRK	203447	hgsc.bcm.edu	37	chrX	105168689	105168689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	attggagcttgttgtcagggCaagctatggcagagatggaa	15	5	1	1	rs16984889	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:105168689C>A	ENST00000243300.9	+	19	3281	c.2978C>A	c.(2977-2979)gCa>gAa	p.A993E	NRK_ENST00000428173.2_Missense_Mutation_p.A994E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	993			A -> E (in dbSNP:rs16984889).		activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTTGTCAGGGCAAGCTATGGC	0.408										HNSCC(51;0.14)			C|||	462	0.122384	0.3306	0.0331	3775	,	,		16586	0.0		0.002	False		,,,				2504	0.0				p.A993E		Atlas-SNP	.											.	NRK	321	.	0			c.C2978A						PASS	.	C	GLU/ALA	1205,2084		184,619,218,559,347	26	24	25		2978	1.8	0.1	X	dbSNP_123	25	9,6498		0,8,1,2351,1788	yes	missense	NRK	NM_198465.2	107	184,627,219,2910,2135	AA,AC,A,CC,C		0.1383,36.6373,12.3928	benign	993/1583	105168689	1214,8582	1927	4148	6075	SO:0001583	missense	203447	exon19			TCAGGGCAAGCTA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2978C>A	X.37:g.105168689C>A	ENSP00000434830:p.Ala993Glu	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	267	163	0.610487	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		168	0.10126582278481013	109	0.2794871794871795	4	0.011299435028248588	0	0.0	0	0.0	C	12.01	1.808484	0.31961	0.366373	0.001383	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79554	-1.27;-1.28	4.85	1.79	0.24919	.	0.766382	0.11121	N	0.597389	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	9.99999999995449E-6	B;B	0.30281	0.275;0.037	B;B	0.27796	0.083;0.011	T	0.14671	-1.0464	9	0.62326	D	0.03	.	1.9029	0.03271	0.212:0.4677:0.2021:0.1183	rs16984889;rs52799695;rs16984889	661;993	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	993;994	ENSP00000434830:A993E;ENSP00000438378:A994E	ENSP00000434830:A993E	A	+	2	0	NRK	105055345	0.038000	0.19896	0.138000	0.22173	0.767000	0.43475	-0.107000	0.10873	0.901000	0.36495	0.513000	0.50165	GCA	0|0.008;A|0.143	0.143	strong		0.408	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105168689	C	A	105168689	3	1	22	1	0	0	0	0	1	0	0	0	10655	710	25	4	3052	4	NRK	23	105168689	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	16407	105168689	50101871	11260	16368										
CXorf57	55086	hgsc.bcm.edu	37	chrX	105883826	105883826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagcagctagagtagaaatTcaagaaagaaatggtaaacg	10	5	1	4	rs5962707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:105883826T>G	ENST00000372548.4	+	10	1888	c.1779T>G	c.(1777-1779)atT>atG	p.I593M	CXorf57_ENST00000372544.2_Missense_Mutation_p.I496M|MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	593			I -> M (in dbSNP:rs5962707). {ECO:0000269|PubMed:15489334}.				poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGTAGAAATTCAAGAAAGAA	0.333													T|||	445	0.117881	0.3185	0.0346	3775	,	,		11888	0.0		0.0	False		,,,				2504	0.0				p.I593M		Atlas-SNP	.											.	CXorf57	107	.	0			c.T1779G						PASS	.	T	MET/ILE,MET/ILE	1450,2385		216,789,229,627,342	118	111	113		1488,1779	1	0	X	dbSNP_114	113	8,6720		0,7,1,2421,1871	yes	missense,missense	CXorf57	NM_001184782.1,NM_018015.5	10,10	216,796,230,3048,2213	GG,GT,G,TT,T		0.1189,37.8096,13.8029	benign,benign	496/759,593/856	105883826	1458,9105	2203	4300	6503	SO:0001583	missense	55086	exon10			AGAAATTCAAGAA	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1779T>G	X.37:g.105883826T>G	ENSP00000361628:p.Ile593Met	Somatic	406	0	0		WXS	Illumina HiSeq	Phase_I	419	145	0.346062	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	168	0.10126582278481013	105	0.2734375	6	0.01694915254237288	0	0.0	0	0.0	T	6.656	0.489589	0.12641	0.378096	0.001189	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.64618	0.88;-0.11;0.88	3.51	0.993	0.19825	.	1.046520	0.07422	N	0.894082	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.28808	-1.0032	9	0.56958	D	0.05	0.7933	3.0646	0.06210	0.0:0.141:0.2513:0.6078	rs5962707;rs52800882;rs5962707	593;593	A8K6R5;Q6NSI4	.;CX057_HUMAN	M	496;593;304	ENSP00000361623:I496M;ENSP00000361628:I593M;ENSP00000405866:I304M	ENSP00000361623:I496M	I	+	3	3	CXorf57	105770482	0.005000	0.15991	0.001000	0.08648	0.152000	0.21847	0.853000	0.27777	0.098000	0.17522	0.339000	0.21740	ATT	0|0.014;G|0.148	0.148	strong		0.333	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		G	105883826	T	G	105883826	3	3	22	1	0	0	0	0	1	0	0	0	4113	1771	62	5	1817	5	CXorf57	23	105883826	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	715137	105883826	49386734	11261	16369										
TBC1D8B	54885	hgsc.bcm.edu	37	chrX	106083304	106083304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaaaaatgaaggaacagtcAtggaaaatactgtttgcaga	10	4	1	2	rs56825776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:106083304A>G	ENST00000357242.5	+	9	1554	c.1380A>G	c.(1378-1380)tcA>tcG	p.S460S	TBC1D8B_ENST00000310452.2_Silent_p.S460S|TBC1D8B_ENST00000276175.3_Silent_p.S454S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	460							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGAACAGTCATGGAAAATAC	0.343													A|||	263	0.0696689	0.1876	0.0202	3775	,	,		13833	0.0		0.001	False		,,,				2504	0.0				p.S460S		Atlas-SNP	.											.	TBC1D8B	181	.	0			c.A1380G						PASS	.	A	,	857,2978		87,555,128,990,443	116	108	111		1380,1380	-3.8	1	X	dbSNP_129	111	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous	TBC1D8B	NM_017752.2,NM_198881.1	,	87,556,129,3417,2314	GG,GA,G,AA,A		0.0297,22.3468,8.1322	,	460/1121,460/633	106083304	859,9704	2203	4300	6503	SO:0001819	synonymous_variant	54885	exon9			ACAGTCATGGAAA	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1380A>G	X.37:g.106083304A>G		Somatic	338	1	0.00295858		WXS	Illumina HiSeq	Phase_I	318	318	1	NM_198881	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	CCDS14522.1																																																																																			A|0.923;G|0.077	0.077	strong		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		G	106083304	A	G	106083304	2	3	22	1	0	0	0	0	0	0	0	1	15623	204	8	2		2	TBC1D8B	23	106083304	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	199478	106083304	49187256	11262	16370										
MID2	11043	hgsc.bcm.edu	37	chrX	107159291	107159291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agacatcaattttaatgatgCctttgaaaactttgctttag	6	6	1	3	rs12849510	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107159291C>A	ENST00000262843.6	+	6	1681	c.1133C>A	c.(1132-1134)gCc>gAc	p.A378D	MID2_ENST00000443968.2_Missense_Mutation_p.A378D|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	378	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.		A -> D (in dbSNP:rs12849510).		innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TTTAATGATGCCTTTGAAAAC	0.343													C|||	110	0.0291391	0.0091	0.0245	3775	,	,		10993	0.002		0.0497	False		,,,				2504	0.0297				p.A378D		Atlas-SNP	.											.	MID2	122	.	0			c.C1133A						PASS	.	C	ASP/ALA,ASP/ALA	59,3776		1,50,7,1581,564	119	116	117		1133,1133	5.2	1	X	dbSNP_121	117	342,6385		6,218,112,2204,1759	yes	missense,missense	MID2	NM_012216.3,NM_052817.2	126,126	7,268,119,3785,2323	AA,AC,A,CC,C		5.084,1.5385,3.7966	benign,benign	378/736,378/706	107159291	401,10161	2203	4299	6502	SO:0001583	missense	11043	exon6			ATGATGCCTTTGA		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1133C>A	X.37:g.107159291C>A	ENSP00000262843:p.Ala378Asp	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	104	59	0.567308	NM_012216	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	48	0.028933092224231464	4	0.008130081300813009	4	0.011299435028248588	1	0.0017482517482517483	22	0.030054644808743168	C	15.48	2.847537	0.51164	0.015385	0.05084	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.59638	0.25;0.28	5.23	5.23	0.72850	COS domain (1);	0.109652	0.64402	D	0.000008	T	0.15046	0.0363	L	0.40543	1.245	0.09310	P	0.9999999747693	B;B	0.28552	0.215;0.022	B;B	0.32465	0.146;0.037	T	0.52873	-0.8517	9	0.51188	T	0.08	.	15.1546	0.72730	0.0:1.0:0.0:0.0	rs12849510;rs52815338;rs57540397;rs12849510	378;378	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	D	378	ENSP00000262843:A378D;ENSP00000413976:A378D	ENSP00000262843:A378D	A	+	2	0	MID2	107045947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.166000	0.68216	0.600000	0.82982	GCC	C|0.965;A|0.035	0.035	strong		0.343	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		A	107159291	C	A	107159291	3	1	22	1	0	0	0	0	1	0	0	0	9578	739	26	4	1155	4	MID2	23	107159291	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1075987	107159291	48111269	11263	16371										
COL4A6	1288	hgsc.bcm.edu	37	chrX	107417730	107417730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaccccttcaggccaggtaaGccccggattcccatgaagcc	10	16	1	1	rs5973851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107417730G>A	ENST00000372216.4	-	31	3181	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	COL4A6_ENST00000545689.1_Silent_p.G1026G|COL4A6_ENST00000334504.7_Silent_p.G1026G|COL4A6_ENST00000394872.2_Silent_p.G1027G|COL4A6_ENST00000538570.1_Silent_p.G1026G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1027	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCAGGTAAGCCCCGGATTC	0.557									Alport syndrome with Diffuse Leiomyomatosis				G|||	1533	0.406093	0.2231	0.3934	3775	,	,		12961	0.4812		0.175	False		,,,				2504	0.3108				p.G1027G	Melanoma(87;1895 1945 2589 7165)	Atlas-SNP	.											.	COL4A6	270	.	0			c.C3081T						PASS	.	G	,	1065,2770		113,675,164,844,407	53	53	53		3081,3078	-2.2	0.6	X	dbSNP_114	53	1392,5336		114,772,392,1542,1480	no	coding-synonymous,coding-synonymous	COL4A6	NM_001847.2,NM_033641.2	,	227,1447,556,2386,1887	AA,AG,A,GG,G		20.6897,27.7705,23.2604	,	1027/1692,1026/1691	107417730	2457,8106	2203	4300	6503	SO:0001819	synonymous_variant	1288	exon31	Familial Cancer Database		AGGTAAGCCCCGG	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3081C>T	X.37:g.107417730G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	151	58	0.384106	NM_001847	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																			G|0.712;A|0.288	0.288	strong		0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107417730	G	A	107417730	2	1	22	1	0	0	0	0	0	0	0	1	3695	958	34	2		2	COL4A6	23	107417730	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	258439	107417730	47852830	11264	16372										
IRS4	8471	hgsc.bcm.edu	37	chrX	107978342	107978342	+	Silent	SNP	T	T	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctgggcaggtgcagtcttccTcgcctggagtgggccacagg					rs375938401|rs80131334|rs1800993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107978342T>A	ENST00000372129.2	-	1	1309	c.1233A>T	c.(1231-1233)cgA>cgT	p.R411R	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	411					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCAGTCTTCCTCGCCTGGAGT	0.642													T|||	171	0.045298	0.0401	0.0562	3775	,	,		13003	0.002		0.0398	False		,,,				2504	0.0378				p.R411R		Atlas-SNP	.											.	IRS4	253	.	0			c.A1233T						PASS	.	T		11,3824		0,0,11,1632,560	49	43	45		1233	0.9	0.1	X	dbSNP_131	45	29,6699		1,1,26,2426,1846	no	coding-synonymous	IRS4	NM_003604.2		1,1,37,4058,2406	AA,AT,A,TT,T		0.431,0.2868,0.3787		411/1258	107978342	40,10523	2203	4300	6503	SO:0001819	synonymous_variant	8471	exon1			TCTTCCTCGCCTG	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1233A>T	X.37:g.107978342T>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	111	66	0.594595	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			T|0.950;A|0.050	0.050	strong		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107978342	T	A	107978342	2	1	22	1	0	0	0	0	0	0	0	1	7842	1538	54	5		5	IRS4	23	107978342	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	560612	107978342	47292218	11265	16373	355	2								
IRS4	8471	hgsc.bcm.edu	37	chrX	107978343	107978343	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcaggtgcagtcttcctCgcctggagtgggccacaggc					rs375938401|rs41307415|rs1800993	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107978343C>T	ENST00000372129.2	-	1	1308	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	411					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGTCTTCCTCGCCTGGAGTG	0.642													C|||	171	0.045298	0.0401	0.0562	3775	,	,		13032	0.002		0.0398	False		,,,				2504	0.0378				p.R411Q		Atlas-SNP	.											.	IRS4	253	.	0			c.G1232A						PASS	.	C	GLN/ARG	10,3825		0,0,10,1632,561	49	42	45		1232	2.2	0	X	dbSNP_127	45	30,6698		2,1,25,2425,1847	yes	missense	IRS4	NM_003604.2	43	2,1,35,4057,2408	TT,TC,T,CC,C		0.4459,0.2608,0.3787	benign	411/1258	107978343	40,10523	2203	4300	6503	SO:0001583	missense	8471	exon1			CTTCCTCGCCTGG	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1232G>A	X.37:g.107978343C>T	ENSP00000361202:p.Arg411Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	115	67	0.582609	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	66	0.039783001808318265	23	0.046747967479674794	13	0.036931818181818184	0	0.0	17	0.02309782608695652	C	7.661	0.684931	0.14973	0.002608	0.004459	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.93	2.23	0.28157	.	1.025260	0.07794	N	0.955471	T	0.03959	0.0111	L	0.32530	0.975	0.80722	P	0.0	B	0.29508	0.246	B	0.12837	0.008	T	0.13629	-1.0502	9	0.42905	T	0.14	-0.9947	5.2258	0.15393	0.0:0.4248:0.2889:0.2862	rs41307415	411	O14654	IRS4_HUMAN	Q	411	ENSP00000361202:R411Q	ENSP00000361202:R411Q	R	-	2	0	IRS4	107864999	0.758000	0.28405	0.046000	0.18839	0.146000	0.21551	-0.020000	0.12525	0.157000	0.19338	-0.192000	0.12808	CGA	C|0.950;T|0.050	0.050	strong		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107978343	C	T	107978343	3	4	22	1	0	0	0	0	1	0	0	0	7842	884	31	1	2545	1	IRS4	23	107978343	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1	107978343	47292217	11266	16374	355	2								
IRS4	8471	hgsc.bcm.edu	37	chrX	107979437	107979437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctcccggacaagacgacccGgtcccaatgagtgcggtcgg	14	14	0	2	rs73253702	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107979437G>A	ENST00000372129.2	-	1	214	c.138C>T	c.(136-138)acC>acT	p.T46T	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	46					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAGACGACCCGGTCCCAATGA	0.657													g|||	188	0.0498013	0.0514	0.0576	3775	,	,		8094	0.002		0.0408	False		,,,				2504	0.0378				p.T46T		Atlas-SNP	.											.	IRS4	253	.	0			c.C138T						PASS	.			269,3555		10,211,38,1409,526	24	26	25		138	1.1	1	X	dbSNP_130	25	386,6312		9,251,117,2164,1733	no	coding-synonymous	IRS4	NM_003604.2		19,462,155,3573,2259	AA,AG,A,GG,G		5.7629,7.0345,6.2251		46/1258	107979437	655,9867	2194	4274	6468	SO:0001819	synonymous_variant	8471	exon1			CGACCCGGTCCCA	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.138C>T	X.37:g.107979437G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	143	97	0.678322	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			G|0.942;A|0.058	0.058	strong		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107979437	G	A	107979437	2	1	22	1	0	0	0	0	0	0	0	1	7842	1103	39	1		1	IRS4	23	107979437	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1094	107979437	47291123	11267	16375										
IRS4	8471	hgsc.bcm.edu	37	chrX	107979475	107979475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cggggttcccgaggaaagaaGcggggtggtcaccactgctg	17	10	1	1	rs1801162	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:107979475G>A	ENST00000372129.2	-	1	176	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	34			L -> F (in dbSNP:rs1801162).		positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAGGAAAGAAGCGGGGTGGTC	0.642													g|||	185	0.0490066	0.0499	0.0562	3775	,	,		8286	0.002		0.0408	False		,,,				2504	0.0378				p.L34F		Atlas-SNP	.											.	IRS4	253	.	0			c.C100T						PASS	.		PHE/LEU	256,3579		6,206,38,1420,533	28	30	29		100	0.4	0.2	X	dbSNP_89	29	392,6332		7,258,120,2163,1748	yes	missense	IRS4	NM_003604.2	22	13,464,158,3583,2281	AA,AG,A,GG,G		5.8299,6.6754,6.1369	benign	34/1258	107979475	648,9911	2203	4296	6499	SO:0001583	missense	8471	exon1			AAAGAAGCGGGGT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.100C>T	X.37:g.107979475G>A	ENSP00000361202:p.Leu34Phe	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	158	103	0.651899	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	84	0.05063291139240506	29	0.06016597510373444	14	0.03977272727272727	0	0.0	20	0.02717391304347826	g	10.04	1.241221	0.22711	0.066754	0.058299	ENSG00000133124	ENST00000372129	T	0.38887	1.11	3.24	0.359	0.16088	.	1.235780	0.06363	N	0.712073	T	0.01489	0.0048	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.14200	-1.0481	9	0.30854	T	0.27	-0.1263	3.9713	0.09454	0.2496:0.385:0.3654:0.0	rs1801162;rs52823369	34	O14654	IRS4_HUMAN	F	34	ENSP00000361202:L34F	ENSP00000361202:L34F	L	-	1	0	IRS4	107866131	0.154000	0.22792	0.238000	0.24106	0.652000	0.38707	0.194000	0.17135	-0.030000	0.13804	0.431000	0.28591	CTT	G|0.943;A|0.057	0.057	strong		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107979475	G	A	107979475	3	1	22	1	0	0	0	0	1	0	0	0	7842	971	34	2	3677	2	IRS4	23	107979475	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	38	107979475	47291085	11268	16376										
CAPN6	827	hgsc.bcm.edu	37	chrX	110491865	110491865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtgcgaccatgctggaacatGgttgggacaagcacatagtt	13	8	0	0	rs17879776	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:110491865G>A	ENST00000324068.1	-	10	1583	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	CAPN6_ENST00000541758.1_Silent_p.T217T	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	472	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTGGAACATGGTTGGGACAA	0.522													G|||	24	0.00635762	0.0174	0.0014	3775	,	,		13145	0.0		0.0	False		,,,				2504	0.0				p.T472T		Atlas-SNP	.											.	CAPN6	120	.	0			c.C1416T						PASS	.	G		91,3744		1,78,11,1553,560	105	87	93		1416	4.2	1	X	dbSNP_124	93	0,6728		0,0,0,2428,1872	no	coding-synonymous	CAPN6	NM_014289.3		1,78,11,3981,2432	AA,AG,A,GG,G		0.0,2.3729,0.8615		472/642	110491865	91,10472	2203	4300	6503	SO:0001819	synonymous_variant	827	exon10			GAACATGGTTGGG	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1416C>T	X.37:g.110491865G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	141	50	0.35461	NM_014289	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																			G|0.991;A|0.009	0.009	strong		0.522	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			A	110491865	G	A	110491865	2	1	22	1	0	0	0	0	0	0	0	1	2630	1335	47	2		2	CAPN6	23	110491865	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2512390	110491865	44778695	11269	16377										
CAPN6	827	hgsc.bcm.edu	37	chrX	110494841	110494841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctcaggcgaaccatatacaCcttctcagcactgaagactt	6	13	2	2	rs12013711	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:110494841C>G	ENST00000324068.1	-	6	996	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	CAPN6_ENST00000541758.1_Missense_Mutation_p.V22L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	277	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		V -> L (in dbSNP:rs12013711). {ECO:0000269|Ref.4}.		microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACCATATACACCTTCTCAGCA	0.478													G|||	740	0.196026	0.5083	0.0605	3775	,	,		14134	0.002		0.0239	False		,,,				2504	0.0				p.V277L		Atlas-SNP	.											.	CAPN6	120	.	0			c.G829C						PASS	.	G	LEU/VAL	2345,1490		605,789,346,238,225	253	254	254		829	5.3	1	X	dbSNP_120	254	211,6517		4,155,48,2269,1824	yes	missense	CAPN6	NM_014289.3	32	609,944,394,2507,2049	GG,GC,G,CC,C		3.1361,38.8527,24.1977	benign	277/642	110494841	2556,8007	2203	4300	6503	SO:0001583	missense	827	exon6			TATACACCTTCTC	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.829G>C	X.37:g.110494841C>G	ENSP00000317214:p.Val277Leu	Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	345	344	0.997101	NM_014289	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	288	0.1735985533453888	171	0.5181818181818182	16	0.04519774011299435	0	0.0	12	0.016	G	4.454	0.084028	0.08583	0.611473	0.031361	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.41758	0.99;2.39	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.137951	0.49916	N	0.000139	T	0.00012	0.0000	N	0.04768	-0.165	0.58432	P	9.000000000036756E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	9	0.02654	T	1	.	11.5044	0.50456	0.0682:0.1227:0.8091:0.0	rs12013711;rs17880204;rs52812550;rs56633453;rs60491464;rs12013711	277	Q9Y6Q1	CAN6_HUMAN	L	277;22	ENSP00000317214:V277L;ENSP00000441736:V22L	ENSP00000317214:V277L	V	-	1	0	CAPN6	110381497	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.455000	0.44988	0.729000	0.32403	-0.170000	0.13304	GTG	C|0.722;0|0.021	.	strong		0.478	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			G	110494841	C	G	110494841	3	3	22	1	0	0	0	0	1	0	0	0	2630	507	18	4	1128	4	CAPN6	23	110494841	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2976	110494841	44775719	11270	16378										
TRPC5	7224	hgsc.bcm.edu	37	chrX	111020096	111020096	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcttggatttggcccgagcCccaccactgccatcattatt	7	15	2	0	rs141761268	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:111020096C>A	ENST00000262839.2	-	11	3285	c.2367G>T	c.(2365-2367)ggG>ggT	p.G789G		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	789					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGCCCGAGCCCCACCACTGC	0.478													C|||	5	0.0013245	0.0038	0.0	3775	,	,		12501	0.0		0.0	False		,,,				2504	0.0				p.G789G		Atlas-SNP	.											.	TRPC5	142	.	0			c.G2367T						PASS	.	C		13,3822		0,9,4,1623,567	137	143	141		2367	2.8	1	X	dbSNP_134	141	0,6728		0,0,0,2428,1872	no	coding-synonymous	TRPC5	NM_012471.2		0,9,4,4051,2439	AA,AC,A,CC,C		0.0,0.339,0.1231		789/974	111020096	13,10550	2203	4300	6503	SO:0001819	synonymous_variant	7224	exon11			CCGAGCCCCACCA	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2367G>T	X.37:g.111020096C>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	160	101	0.63125	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	CCDS14561.1																																																																																			C|0.998;A|0.002	0.002	strong		0.478	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		A	111020096	C	A	111020096	2	1	22	1	0	0	0	0	0	0	0	1	16579	610	22	4		4	TRPC5	23	111020096	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	525255	111020096	44250464	11271	16379										
LHFPL1	340596	hgsc.bcm.edu	37	chrX	111914244	111914244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agcacagtcttacctccaacAaactgcgctgctcccatgca	6	16	1	0	rs7064462	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:111914244A>G	ENST00000371968.3	-	2	614	c.375T>C	c.(373-375)ttT>ttC	p.F125F	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.F125F	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TACCTCCAACAAACTGCGCTG	0.572													G|||	871	0.230728	0.5477	0.0893	3775	,	,		14285	0.0		0.0716	False		,,,				2504	0.0133				p.F125F		Atlas-SNP	.											.	LHFPL1	28	.	0			c.T375C						PASS	.	G		2395,1440		655,732,353,245,218	82	62	68		375	-8	0.2	X	dbSNP_116	68	522,6206		11,348,152,2069,1720	no	coding-synonymous	LHFPL1	NM_178175.3		666,1080,505,2314,1938	GG,GA,G,AA,A		7.7586,37.5489,27.6153		125/221	111914244	2917,7646	2203	4300	6503	SO:0001819	synonymous_variant	340596	exon2			TCCAACAAACTGC	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.375T>C	X.37:g.111914244A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	100	62	0.62	NM_178175	A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	ENST00000371968.3	37	CCDS14562.1																																																																																			A|0.714;0|0.003	.	strong		0.572	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		G	111914244	A	G	111914244	2	3	22	1	0	0	0	0	0	0	0	1	8764	127	5	2		2	LHFPL1	23	111914244	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	894148	111914244	43356316	11272	16380										
AMOT	154796	hgsc.bcm.edu	37	chrX	112022687	112022687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggtggtgatggtggcagcagTggcagtgatggcggcagcag	21	6	0	2	rs147791527	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:112022687T>C	ENST00000524145.1	-	11	2769	c.2695A>G	c.(2695-2697)Act>Gct	p.T899A	AMOT_ENST00000371962.1_Missense_Mutation_p.T667A|AMOT_ENST00000304758.1_Missense_Mutation_p.T490A|AMOT_ENST00000371959.3_Missense_Mutation_p.T899A|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	899					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gtggcagcagtggcagtgatg	0.607													T|||	32	0.00847682	0.0242	0.0	3775	,	,		10806	0.0		0.0	False		,,,				2504	0.0				p.T899A		Atlas-SNP	.											.	AMOT	204	.	0			c.A2695G						PASS	.	T	ALA/THR,ALA/THR	65,3719		0,54,11,1560,545	47	27	34		1468,2695	-1.9	0	X	dbSNP_134	34	0,6636		0,0,0,2405,1826	yes	missense,missense	AMOT	NM_133265.2,NM_001113490.1	58,58	0,54,11,3965,2371	CC,CT,C,TT,T		0.0,1.7178,0.6238	benign,benign	490/676,899/1085	112022687	65,10355	2170	4231	6401	SO:0001583	missense	154796	exon10			CAGCAGTGGCAGT	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2695A>G	X.37:g.112022687T>C	ENSP00000429013:p.Thr899Ala	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	116	82	0.706897	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	14	0.008438818565400843	10	0.02066115702479339	0	0.0	0	0.0	0	0.0	T	7.595	0.671638	0.14776	0.017178	0.0	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.39592	1.07;2.17;2.41;2.17	5.08	-1.92	0.07618	.	0.574197	0.15760	N	0.245998	T	0.10637	0.0260	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	10	0.08599	T	0.76	0.0865	1.9616	0.03387	0.1442:0.3726:0.1459:0.3373	.	899	Q4VCS5	AMOT_HUMAN	A	490;899;667;899;139	ENSP00000305557:T490A;ENSP00000361027:T899A;ENSP00000361030:T667A;ENSP00000429013:T899A	ENSP00000305557:T490A	T	-	1	0	AMOT	111909343	0.990000	0.36364	0.019000	0.16419	0.904000	0.53231	1.464000	0.35288	-0.085000	0.12573	0.430000	0.28490	ACT	T|0.990;C|0.010	0.010	strong		0.607	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		C	112022687	T	C	112022687	3	2	22	1	0	0	0	0	1	0	0	0	582	1696	59	2	567	2	AMOT	23	112022687	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	108443	112022687	43247873	11273	16381										
SLC6A14	11254	hgsc.bcm.edu	37	chrX	115568993	115568993	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcagagaatttccatgttggTgaaaatgatgagaatcagga	11	4	2	4	rs12720074	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:115568993T>A	ENST00000371900.4	+	2	172	c.84T>A	c.(82-84)ggT>ggA	p.G28G		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	28					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCCATGTTGGTGAAAATGATG	0.388													T|||	204	0.0540397	0.0144	0.0331	3775	,	,		10878	0.0139		0.0736	False		,,,				2504	0.0757				p.G28G		Atlas-SNP	.											.	SLC6A14	56	.	0			c.T84A						PASS	.	T		161,3674		1,135,24,1496,547	170	174	173		84	1.2	0.9	X	dbSNP_121	173	588,6140		18,393,159,2017,1713	no	coding-synonymous	SLC6A14	NM_007231.3		19,528,183,3513,2260	AA,AT,A,TT,T		8.7396,4.1982,7.0908		28/643	115568993	749,9814	2203	4300	6503	SO:0001819	synonymous_variant	11254	exon2			TGTTGGTGAAAAT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.84T>A	X.37:g.115568993T>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	78	55	0.705128	NM_007231	Q5H942	Silent	SNP	ENST00000371900.4	37	CCDS14570.1																																																																																			0|0.018;A|0.063	0.063	strong		0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			A	115568993	T	A	115568993	2	1	22	1	0	0	0	0	0	0	0	1	14677	1683	59	5		5	SLC6A14	23	115568993	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	3546306	115568993	39701567	11274	16382										
KLHL13	90293	hgsc.bcm.edu	37	chrX	117053499	117053499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttaccccagatatgagaaaCactttacagaagtccaaaac	5	11	0	3	rs6645994	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:117053499C>T	ENST00000262820.3	-	4	1464	c.555G>A	c.(553-555)gtG>gtA	p.V185V	KLHL13_ENST00000371882.1_Silent_p.V134V|KLHL13_ENST00000545703.1_Silent_p.V143V|KLHL13_ENST00000539496.1_Silent_p.V188V|KLHL13_ENST00000541812.1_Silent_p.V169V|KLHL13_ENST00000371878.1_Silent_p.V134V|KLHL13_ENST00000469946.1_Silent_p.V134V|KLHL13_ENST00000371876.1_Silent_p.V134V|KLHL13_ENST00000540167.1_Silent_p.V169V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	185					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATATGAGAAACACTTTACAGA	0.403													T|||	956	0.253245	0.6142	0.0793	3775	,	,		12883	0.0		0.0537	False		,,,				2504	0.0358				p.V188V		Atlas-SNP	.											.	KLHL13	87	.	0			c.G564A						PASS	.	T	,,,,,	2628,1207		767,687,407,178,164	72	84	80		564,537,507,507,429,555	-7.5	0.6	X	dbSNP_116	80	513,6215		22,320,149,2086,1723	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL13	NM_001168299.1,NM_001168300.1,NM_001168301.1,NM_001168302.1,NM_001168303.1,NM_033495.3	,,,,,	789,1007,556,2264,1887	TT,TC,T,CC,C		7.6249,31.4733,29.7359	,,,,,	188/659,179/650,169/640,169/640,143/614,185/656	117053499	3141,7422	2203	4300	6503	SO:0001819	synonymous_variant	90293	exon5			GAGAAACACTTTA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.555G>A	X.37:g.117053499C>T		Somatic	362	0	0		WXS	Illumina HiSeq	Phase_I	270	270	1	NM_001168299	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																			C|0.688;0|0.003	.	strong		0.403	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117053499	C	T	117053499	2	4	22	1	0	0	0	0	0	0	0	1	8369	465	17	2		2	KLHL13	23	117053499	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1484506	117053499	38217061	11275	16383										
WDR44	54521	hgsc.bcm.edu	37	chrX	117528142	117528142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtggagataaaatagttacCgcccaggttggtgaattagt	12	5	0	2	rs6603401	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:117528142C>T	ENST00000254029.3	+	5	1346	c.951C>T	c.(949-951)acC>acT	p.T317T	WDR44_ENST00000371822.5_Silent_p.T292T|WDR44_ENST00000371825.3_Silent_p.T317T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	317						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.T317T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAATAGTTACCGCCCAGGTTG	0.433													T|||	2177	0.576689	0.7156	0.451	3775	,	,		14217	0.4395		0.1581	False		,,,				2504	0.3231				p.T317T		Atlas-SNP	.											.	WDR44	188	.	2	Substitution - coding silent(2)	stomach(2)	c.C951T						PASS	.	T	,,	3246,589		1172,407,495,53,76	121	120	121		951,876,951	2.9	1	X	dbSNP_116	121	1413,5315		101,797,414,1530,1458	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR44	NM_001184965.1,NM_001184966.1,NM_019045.4	,,	1273,1204,909,1583,1534	TT,TC,T,CC,C		21.0018,15.3585,44.1068	,,	317/906,292/825,317/914	117528142	4659,5904	2203	4300	6503	SO:0001819	synonymous_variant	54521	exon5			AGTTACCGCCCAG	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.951C>T	X.37:g.117528142C>T		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	226	154	0.681416	NM_001184965	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Silent	SNP	ENST00000254029.3	37	CCDS14572.1	875	0.5274261603375527	238	0.8561151079136691	99	0.38671875	172	0.42574257425742573	90	0.12968299711815562	T	10.12	1.263062	0.23051	0.846415	0.210018	ENSG00000131725	ENST00000371848	.	.	.	5.51	2.9	0.33743	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.14420	-1.0473	3	.	.	.	-13.3646	2.8866	0.05663	0.1348:0.0751:0.2745:0.5156	rs6603401;rs57593030;rs6603401	.	.	.	C	217	.	.	R	+	1	0	WDR44	117412170	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.982000	0.29539	0.220000	0.20860	-0.314000	0.08810	CGC	C|0.475;T|0.525	0.525	strong		0.433	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		T	117528142	C	T	117528142	2	4	22	1	0	0	0	0	0	0	0	1	17293	639	23	1		1	WDR44	23	117528142	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	474643	117528142	37742418	11276	16384										
DOCK11	139818	hgsc.bcm.edu	37	chrX	117680019	117680019	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttctcagaagggtggtgtGataaaacaaggctggttgca	14	5	1	2	rs61740837	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:117680019G>C	ENST00000276202.7	+	6	561	c.498G>C	c.(496-498)gtG>gtC	p.V166V	DOCK11_ENST00000276204.6_Silent_p.V166V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	166	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGGTGGTGTGATAAAACAAG	0.338													G|||	33	0.00874172	0.0234	0.0014	3775	,	,		12505	0.0		0.001	False		,,,				2504	0.0				p.V166V		Atlas-SNP	.											.	DOCK11	185	.	0			c.G498C						PASS	.	G		75,3760		0,67,8,1565,563	143	120	128		498	2.2	1	X	dbSNP_129	128	0,6728		0,0,0,2428,1872	no	coding-synonymous	DOCK11	NM_144658.3		0,67,8,3993,2435	CC,CG,C,GG,G		0.0,1.9557,0.71		166/2074	117680019	75,10488	2203	4300	6503	SO:0001819	synonymous_variant	139818	exon6			TGGTGTGATAAAA	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.498G>C	X.37:g.117680019G>C		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	201	77	0.383085	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																			G|0.993;C|0.007	0.007	strong		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		C	117680019	G	C	117680019	2	2	22	1	0	0	0	0	0	0	0	1	4686	1277	45	4		4	DOCK11	23	117680019	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	151877	117680019	37590541	11277	16385										
LONRF3	79836	hgsc.bcm.edu	37	chrX	118148229	118148229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aactgtgtctatcagcaagcAtcattgtggtttcattcgct	8	9	4	0	rs2278954	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:118148229A>G	ENST00000371628.3	+	10	2065	c.2034A>G	c.(2032-2034)gcA>gcG	p.A678A	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Silent_p.A422A|LONRF3_ENST00000304778.7_Silent_p.A637A	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	678	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ATCAGCAAGCATCATTGTGGT	0.433													G|||	1746	0.462517	0.6021	0.2421	3775	,	,		17899	0.1359		0.2843	False		,,,				2504	0.3671				p.A678A		Atlas-SNP	.											.	LONRF3	138	.	0			c.A2034G						PASS	.	G	,	2781,1054		871,616,423,145,148	306	249	268		2034,1911	-6.8	0	X	dbSNP_100	268	2550,4178		359,1101,731,968,1141	no	coding-synonymous,coding-synonymous	LONRF3	NM_001031855.1,NM_024778.4	,	1230,1717,1154,1113,1289	GG,GA,G,AA,A		37.9013,27.4837,49.5314	,	678/760,637/719	118148229	5331,5232	2203	4300	6503	SO:0001819	synonymous_variant	79836	exon10			GCAAGCATCATTG	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2034A>G	X.37:g.118148229A>G		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_001031855	Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	CCDS35374.1	673	0.405666063893912	200	0.6329113924050633	62	0.2108843537414966	52	0.09961685823754789	141	0.2288961038961039	G	7.787	0.710819	0.15239	0.725163	0.379013	ENSG00000175556	ENST00000439603	.	.	.	5.7	-6.8	0.01709	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999580202	.	.	.	.	.	.	T	0.28744	-1.0034	3	.	.	.	-63.1	2.3441	0.04267	0.5401:0.1472:0.1646:0.148	rs2278954;rs17326906;rs56528694;rs60466076;rs2278954	.	.	.	V	444	.	.	I	+	1	0	LONRF3	118032257	0.000000	0.05858	0.006000	0.13384	0.809000	0.45718	-3.583000	0.00423	-2.585000	0.00460	-0.871000	0.02989	ATC	0|0.014;G|0.475	0.475	strong		0.433	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		G	118148229	A	G	118148229	2	3	22	1	0	0	0	0	0	0	0	1	8896	204	8	2		2	LONRF3	23	118148229	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	468210	118148229	37122331	11278	16386										
ANKRD58	347454	hgsc.bcm.edu	37	chrX	118893390	118893390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggagagcggcagcgggtgcAccaacctgaacaacaacagc	13	12	0	2	rs12841259		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:118893390A>G	ENST00000343905.3	+	1	815	c.760A>G	c.(760-762)Acc>Gcc	p.T254A		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	254			T -> A (in dbSNP:rs12841259).														CAGCGGGTGCACCAACCTGAA	0.697													A|||	174	0.0460927	0.0764	0.0072	3775	,	,		10862	0.0377		0.002	False		,,,				2504	0.0286				p.T254A		Atlas-SNP	.											.	.	.	.	0			c.A760G						PASS	.	A	ALA/THR	249,3366		5,194,45,1337,498	7	10	9		760	-7	0	X	dbSNP_121	9	19,6433		0,15,4,2340,1738	yes	missense	ANKRD58	NM_001105576.2	58	5,209,49,3677,2236	GG,GA,G,AA,A		0.2945,6.888,2.6622	benign	254/316	118893390	268,9799	2079	4097	6176	SO:0001583	missense	347454	exon1			GGGTGCACCAACC		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.760A>G	X.37:g.118893390A>G	ENSP00000340975:p.Thr254Ala	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	97	59	0.608247	NM_001105576		Missense_Mutation	SNP	ENST00000343905.3	37	CCDS43984.1	67	0.04038577456298975	23	0.04893617021276596	4	0.011111111111111112	20	0.03597122302158273	0	0.0	A	5.179	0.218585	0.09810	0.06888	0.002945	ENSG00000187808	ENST00000343905	T	0.13420	2.59	4.24	-7.04	0.01578	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.08055	0.003	T	0.47005	-0.9150	8	0.09084	T	0.74	1.5969	11.8996	0.52675	0.1977:0.1212:0.681:0.0	rs12841259	254	A6NJG2	ANR58_HUMAN	A	254	ENSP00000340975:T254A	ENSP00000340975:T254A	T	+	1	0	ANKRD58	118777418	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.267000	0.02839	-1.676000	0.01457	0.314000	0.21332	ACC	A|0.958;G|0.042	0.042	strong		0.697	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		G	118893390	A	G	118893390	3	3	22	1	0	0	0	0	1	0	0	0	684	159	6	2	762	2	ANKRD58	23	118893390	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	745161	118893390	36377170	11279	16387										
RPL39	6170	hgsc.bcm.edu	37	chrX	118920652	118920652	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctcatgtgcaattccttataGacccagcttggttcttctcc	6	13	3	1	rs79192437	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:118920652G>A	ENST00000361575.3	-	3	217	c.151C>T	c.(151-153)Cta>Tta	p.L51L	RPL39_ENST00000468844.1_5'UTR|SNORA69_ENST00000383895.1_RNA	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39	51					antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						ATTCCTTATAGACCCAGCTTG	0.413													G|||	202	0.0535099	0.118	0.0101	3775	,	,		15158	0.0		0.003	False		,,,				2504	0.0368				p.M51L		Atlas-SNP	.											.	RPL39	9	.	0			c.A151T						PASS	.	G		477,3356		29,344,75,1258,496	114	103	107		151	3.8	1	X	dbSNP_131	107	10,6714		0,9,1,2417,1871	no	coding-synonymous	RPL39	NM_001000.2		29,353,76,3675,2367	AA,AG,A,GG,G		0.1487,12.4446,4.6131		51/52	118920652	487,10070	2202	4298	6500	SO:0001819	synonymous_variant	6170	exon3			CTTATAGACCCAG		CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"L ribosomal proteins"	10350	protein-coding gene	gene with protein product		300899	"ribosomal protein L39 pseudogene 42"	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.151C>T	X.37:g.118920652G>A		Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	336	334	0.994048	NM_001000	P02404|P39025|Q9BYF2	Missense_Mutation	SNP	ENST00000361575.3	37	CCDS14586.1																																																																																			G|0.953;A|0.047	0.047	strong		0.413	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058047.1	NM_001000		A	118920652	G	A	118920652	2	1	22	1	0	0	0	0	0	0	0	1	13592	933	33	2		2	RPL39	23	118920652	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	27262	118920652	36349908	11280	16388										
NKAP	79576	hgsc.bcm.edu	37	chrX	119070328	119070330	+	In_Frame_Del	DEL	GAT	GAT	-													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acttcttatgttttcttttcGatgattttttctttctcctt					rs10577974		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:119070328_119070330delGAT	ENST00000371410.3	-	4	769_771	c.603_605delATC	c.(601-606)tcatcg>tcg	p.201_202SS>S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	201	Lys-rich.|Necessary for interaction with CIR1.				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)	p.S202L(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTTCTTTTCGATGATTTTTTCT	0.34														357	0.0945695	0.1747	0.0476	3775	,	,		11854	0.001		0.0388	False		,,,				2504	0.0542				p.202_202del		Pindel	.											.	NKAP	53	.	1	Substitution - Missense(1)	large_intestine(1)	c.604_606del						PASS	.			823,2898		78,555,112,959,425						-0.6	1		dbSNP_119	144	341,6143		8,230,95,2119,1675	no	coding	NKAP	NM_024528.3		86,785,207,3078,2100	A1A1,A1R,A1,RR,R		5.2591,22.1177,11.4062				1164,9041				SO:0001651	inframe_deletion	79576	exon4			.	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.603_605delATC	X.37:g.119070331_119070333delGAT	ENSP00000360464:p.Ser202del	Somatic	447	.	.		WXS	Illumina HiSeq	Phase_I	366	93	0.254	NM_024528	Q6IPW6|Q96BQ2|Q9H638	In_Frame_Del	DEL	ENST00000371410.3	37	CCDS14592.1																																																																																			.	.	weak		0.34	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		-	119070330	GAT	-	119070328	7	5	22	1	0	1	0	1	0	0	0	0	10439	1059	37	0	666	0	NKAP	23	119070328	In_Frame_Del	DEL	GAT	TCGA-G8-6324-01A-11D-2210-10	149676	119070328	36200232	11281	16389										
CT47B1	643311	hgsc.bcm.edu	37	chrX	120008932	120008932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctctgggaccgacgcggccTcctggaccgacgcagcctcc	13	18	1	0	rs193289998		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:120008932T>C	ENST00000371311.3	-	1	847	c.593A>G	c.(592-594)gAg>gGg	p.E198G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	198										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGACGCGGCCTCCTGGACCGA	0.711													N|||	78	0.0206623	0.053	0.0115	3775	,	,		9887	0.0		0.0	False		,,,				2504	0.0				p.E198G		Atlas-SNP	.											.	CT47B1	67	.	0			c.A593G						PASS	.	T	GLY/GLU	86,1123		1,78,6,438,169	28	28	28		593	0.7	0	X		28	0,2389		0,0,0,800,789	no	missense	CT47B1	NM_001145718.1	98	1,78,6,1238,958	CC,CT,C,TT,T		0.0,7.1133,2.3902	benign	198/300	120008932	86,3512	692	1589	2281	SO:0001583	missense	643311	exon1			GCGGCCTCCTGGA		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.593A>G	X.37:g.120008932T>C	ENSP00000360360:p.Glu198Gly	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	77	22	0.285714	NM_001145718	A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	25	0.015069318866787222	15	0.03125	2	0.00558659217877095	0	0.0	0	0.0	T	10.45	1.352922	0.24512	0.071133	0.0	ENSG00000236446	ENST00000371311	.	.	.	1.89	0.714	0.18180	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.80722	P	0.0	B	0.19817	0.039	B	0.08055	0.003	T	0.15492	-1.0435	7	0.35671	T	0.21	.	3.0134	0.06052	0.0:0.4121:0.0:0.5879	.	198	P0C2W7	CT47B_HUMAN	G	198	.	ENSP00000360360:E198G	E	-	2	0	CT47B1	119892960	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.020000	0.03618	0.129000	0.18514	0.143000	0.16000	GAG	T|0.985;C|0.015	0.015	strong		0.711	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		C	120008932	T	C	120008932	3	2	22	1	0	0	0	0	1	0	0	0	3989	1551	54	3	314	3	CT47B1	23	120008932	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	938604	120008932	35261628	11282	16390										
CT47B1	643311	hgsc.bcm.edu	37	chrX	120008979	120008979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	aggccgaggccctcgccttcTggggctgcagcccctgcacc	13	18	1	0	rs871733		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711													N|||	2563	0.67894	0.7209	0.4524	3775	,	,		9784	0.5278		0.3897	False		,,,				2504	0.3804				p.P182P		Atlas-SNP	.											.	CT47B1	67	.	0			c.A546G						PASS	.	C		1084,125		424,86,150,7,25	30	29	30		546	-2.5	0	X	dbSNP_86	30	1169,1220		188,394,399,218,390	no	coding-synonymous	CT47B1	NM_001145718.1		612,480,549,225,415	CC,CT,C,TT,T		48.9326,10.3391,37.3819		182/300	120008979	2253,1345	692	1589	2281	SO:0001819	synonymous_variant	643311	exon1			GCCTTCTGGGGCT		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.546A>G	X.37:g.120008979T>C		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	115	115	1	NM_001145718	A6NM97	Silent	SNP	ENST00000371311.3	37	CCDS48161.1																																																																																			T|0.345;C|0.655	0.655	strong		0.711	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		C	120008979	T	C	120008979	2	2	22	1	0	0	0	0	0	0	0	1	3989	1567	55	3		3	CT47B1	23	120008979	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	47	120008979	35261581	11283	16391										
GRIA3	2892	hgsc.bcm.edu	37	chrX	122537277	122537277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttctaggctggctactggaaTgagtatgaaaggtttgtgcc	13	6	1	2	rs502434	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:122537277T>C	ENST00000371251.1	+	9	1252	c.1200T>C	c.(1198-1200)aaT>aaC	p.N400N	GRIA3_ENST00000541091.1_Silent_p.N384N|GRIA3_ENST00000264357.5_Silent_p.N400N|GRIA3_ENST00000371256.5_Silent_p.N400N|GRIA3_ENST00000542149.1_Silent_p.N400N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	400					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTACTGGAATGAGTATGAAA	0.423													T|||	1997	0.529007	0.3003	0.4308	3775	,	,		13991	0.5208		0.4682	False		,,,				2504	0.3119				p.N400N		Atlas-SNP	.											.	GRIA3	386	.	0			c.T1200C						PASS	.	T	,	1647,2188		290,803,264,539,307	210	194	199		1200,1200	2.2	1	X	dbSNP_83	199	4115,2613		895,1165,1160,368,712	no	coding-synonymous,coding-synonymous	GRIA3	NM_000828.4,NM_007325.4	,	1185,1968,1424,907,1019	CC,CT,C,TT,T		38.8377,42.9465,45.4511	,	400/895,400/895	122537277	5762,4801	2203	4300	6503	SO:0001819	synonymous_variant	2892	exon9			CTGGAATGAGTAT	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1200T>C	X.37:g.122537277T>C		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	134	76	0.567164	NM_000828	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																			T|0.440;0|0.004	.	strong		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		C	122537277	T	C	122537277	2	2	22	1	0	0	0	0	0	0	0	1	6769	1461	51	2		2	GRIA3	23	122537277	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	2528298	122537277	32733283	11284	16392										
ODZ1	10178	hgsc.bcm.edu	37	chrX	123775824	123775824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgccatggttggaacacaTtgggtctaggcagtcctctg	13	9	2	0	rs16999334	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:123775824T>C	ENST00000371130.3	-	11	1957	c.1894A>G	c.(1894-1896)Atg>Gtg	p.M632V	TENM1_ENST00000422452.2_Missense_Mutation_p.M632V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	632	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.		M -> V (in dbSNP:rs16999334).		immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTGGAACACATTGGGTCTAGG	0.468													T|||	168	0.0445033	0.121	0.0086	3775	,	,		14477	0.0		0.001	False		,,,				2504	0.001				p.M632V		Atlas-SNP	.											.	.	.	.	0			c.A1894G						PASS	.	T	VAL/MET,VAL/MET,VAL/MET	562,3273		49,384,80,1199,491	196	175	182		1894,1891,1894	4.2	1	X	dbSNP_123	182	3,6725		0,3,0,2425,1872	yes	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	21,21,21	49,387,80,3624,2363	CC,CT,C,TT,T		0.0446,14.6545,5.3489	benign,benign,benign	632/2733,631/2732,632/2726	123775824	565,9998	2203	4300	6503	SO:0001583	missense	10178	exon11			AACACATTGGGTC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1894A>G	X.37:g.123775824T>C	ENSP00000360171:p.Met632Val	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	159	56	0.352201	NM_001163278	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	59	0.03556359252561784	41	0.08836206896551724	3	0.008379888268156424	0	0.0	0	0.0	T	13.41	2.228398	0.39399	0.146545	4.46E-4	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03212	4.01;4.01	5.32	4.15	0.48705	Epidermal growth factor-like (1);	0.119478	0.56097	D	0.000024	T	0.00039	0.0001	N	0.21373	0.66	0.27607	P	0.9487963	B;B;B	0.27351	0.176;0.111;0.006	B;B;B	0.17098	0.016;0.017;0.005	T	0.48864	-0.8997	9	0.38643	T	0.18	.	10.3355	0.43847	0.0:0.0784:0.0:0.9216	rs16999334;rs52832334;rs58243564;rs16999334	631;632;632	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	632	ENSP00000360171:M632V;ENSP00000403954:M632V	ENSP00000360171:M632V	M	-	1	0	ODZ1	123603505	0.989000	0.36119	1.000000	0.80357	0.978000	0.69477	2.162000	0.42367	0.675000	0.31264	0.481000	0.45027	ATG	0|0.018;C|0.053	0.053	strong		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123775824	T	C	123775824	3	2	22	1	0	0	0	0	1	0	0	0	10834	1493	52	2	6392	2	ODZ1	23	123775824	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1238547	123775824	31494736	11285	16393										
ODZ1	10178	hgsc.bcm.edu	37	chrX	123838882	123838882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatcacataggctagtaaCaaggccaaagtcactgtgat	8	10	2	1	rs138596900	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:123838882C>T	ENST00000371130.3	-	5	1059	c.996G>A	c.(994-996)ttG>ttA	p.L332L	TENM1_ENST00000422452.2_Silent_p.L332L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	332					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGGCTAGTAACAAGGCCAAAG	0.453													C|||	71	0.0188079	0.0514	0.0043	3775	,	,		14198	0.0		0.0	False		,,,				2504	0.0				p.L332L		Atlas-SNP	.											.	.	.	.	0			c.G996A						PASS	.	C	,,	212,3623		5,173,29,1454,542	163	146	152		996,996,996	5.7	1	X	dbSNP_134	152	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	,,	5,173,29,3882,2414	TT,TC,T,CC,C		0.0,5.528,2.007	,,	332/2733,332/2732,332/2726	123838882	212,10351	2203	4300	6503	SO:0001819	synonymous_variant	10178	exon5			TAGTAACAAGGCC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.996G>A	X.37:g.123838882C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	128	40	0.3125	NM_001163278	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																			C|0.979;T|0.021	0.021	strong		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123838882	C	T	123838882	2	4	22	1	0	0	0	0	0	0	0	1	10834	477	17	2		2	ODZ1	23	123838882	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	63058	123838882	31431678	11286	16394										
DCAF12L2	340578	hgsc.bcm.edu	37	chrX	125298690	125298690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggttgagccagcctctgccGcaggcaagcttgagcttcct	12	13	1	2	rs3761552	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:125298690G>A	ENST00000360028.2	-	1	1244	c.1218C>T	c.(1216-1218)tgC>tgT	p.C406C	DCAF12L2_ENST00000538699.1_Silent_p.C406C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	406										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCTCTGCCGCAGGCAAGCT	0.607													A|||	2113	0.559735	0.6293	0.4294	3775	,	,		13019	0.3859		0.2525	False		,,,				2504	0.3476				p.C406C		Atlas-SNP	.											.	DCAF12L2	157	.	0			c.C1218T						PASS	.	A		2961,874		976,573,436,83,135	86	91	89		1218	1.8	0.9	X	dbSNP_107	89	2000,4728		221,987,571,1220,1301	no	coding-synonymous	DCAF12L2	NM_001013628.2		1197,1560,1007,1303,1436	AA,AG,A,GG,G		29.7265,22.7901,46.9658		406/464	125298690	4961,5602	2203	4300	6503	SO:0001819	synonymous_variant	340578	exon1			TCTGCCGCAGGCA	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1218C>T	X.37:g.125298690G>A		Somatic	310	1	0.00322581		WXS	Illumina HiSeq	Phase_I	388	387	0.997423	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																			G|0.437;A|0.563	0.563	strong		0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125298690	G	A	125298690	2	1	22	1	0	0	0	0	0	0	0	1	4265	1079	38	1		1	DCAF12L2	23	125298690	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1459808	125298690	29971870	11287	16395										
DCAF12L2	340578	hgsc.bcm.edu	37	chrX	125299188	125299188	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggacggatgtgggcatatacTgggagacccacctcgctgtg	15	10	0	1	rs12014937	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:125299188T>G	ENST00000360028.2	-	1	746	c.720A>C	c.(718-720)ccA>ccC	p.P240P	DCAF12L2_ENST00000538699.1_Silent_p.P240P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	240										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGCATATACTGGGAGACCCA	0.642													G|||	2050	0.543046	0.587	0.4236	3775	,	,		12575	0.3859		0.2495	False		,,,				2504	0.3476				p.P240P		Atlas-SNP	.											.	DCAF12L2	157	.	0			c.A720C						PASS	.	G		2758,1077		841,669,407,122,164	29	32	31		720	-7.7	0	X	dbSNP_120	31	1994,4730		220,988,566,1219,1304	no	coding-synonymous	DCAF12L2	NM_001013628.2		1061,1657,973,1341,1468	GG,GT,G,TT,T		29.655,28.0834,45.0043		240/464	125299188	4752,5807	2203	4297	6500	SO:0001819	synonymous_variant	340578	exon1			ATATACTGGGAGA	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.720A>C	X.37:g.125299188T>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																			T|0.485;G|0.515	0.515	strong		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		G	125299188	T	G	125299188	2	3	22	1	0	0	0	0	0	0	0	1	4265	1567	55	5		5	DCAF12L2	23	125299188	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	498	125299188	29971372	11288	16396										
DCAF12L2	340578	hgsc.bcm.edu	37	chrX	125299467	125299467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcatggatgccgcagccctgGtgggcctgggccagcccggc	17	15	0	0	rs10126452	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:125299467G>T	ENST00000360028.2	-	1	467	c.441C>A	c.(439-441)caC>caA	p.H147Q	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.H147Q			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	147			H -> Q (in dbSNP:rs10126452).							NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCAGCCCTGGTGGGCCTGGG	0.642													T|||	2113	0.559735	0.6293	0.4294	3775	,	,		11489	0.3859		0.2525	False		,,,				2504	0.3476				p.H147Q		Atlas-SNP	.											.	DCAF12L2	157	.	0			c.C441A						PASS	.	T	GLN/HIS	2959,876		974,575,436,83,135	76	79	78		441	-2.2	0	X	dbSNP_119	78	2000,4726		221,987,571,1219,1301	no	missense	DCAF12L2	NM_001013628.2	24	1195,1562,1007,1302,1436	TT,TG,T,GG,G		29.7354,22.8422,46.9558	benign	147/464	125299467	4959,5602	2203	4299	6502	SO:0001583	missense	340578	exon1			GCCCTGGTGGGCC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.441C>A	X.37:g.125299467G>T	ENSP00000353128:p.His147Gln	Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	272	271	0.996324	NM_001013628	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	863	0.5201928872814949	218	0.7077922077922078	100	0.36231884057971014	146	0.35784313725490197	131	0.19969512195121952	t	0.001	-3.105942	0.00033	0.771578	0.297354	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.25250	1.81;1.81	3.89	-2.22	0.06952	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	8	0.02654	T	1	.	0.7994	0.01072	0.1634:0.2374:0.3197:0.2795	rs10126452;rs61089575	147	Q5VW00	DC122_HUMAN	Q	147	ENSP00000441489:H147Q;ENSP00000353128:H147Q	ENSP00000353128:H147Q	H	-	3	2	DCAF12L2	125127148	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	0.736000	0.26130	-0.650000	0.05423	-3.105000	0.00063	CAC	G|0.479;T|0.521	0.521	strong		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299467	G	T	125299467	3	4	22	1	0	0	0	0	1	0	0	0	4265	1252	44	4	954	4	DCAF12L2	23	125299467	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	279	125299467	29971093	11289	16397										
ELF4	2000	hgsc.bcm.edu	37	chrX	129201179	129201179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggtccagcccctgtgacCgtgggtggcgccgggttggt	18	12	0	1	rs2181440	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:129201179C>T	ENST00000308167.5	-	9	1888	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	ELF4_ENST00000335997.7_Silent_p.T503T	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCCTGTGACCGTGGGTGGCG	0.657			T	ERG	AML								c|||	772	0.204503	0.0348	0.317	3775	,	,		12362	0.1002		0.2286	False		,,,				2504	0.1789				p.T503T		Atlas-SNP	.		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4	67	.	0			c.G1509A						PASS	.		,	273,3558		10,215,38,1406,531	24	26	25		1509,1509	-7.2	0	X	dbSNP_96	25	1731,4977		158,919,496,1348,1362	no	coding-synonymous,coding-synonymous	ELF4	NM_001127197.1,NM_001421.3	,	168,1134,534,2754,1893	TT,TC,T,CC,C		25.805,7.1261,19.0151	,	503/664,503/664	129201179	2004,8535	2200	4283	6483	SO:0001819	synonymous_variant	2000	exon9			TGTGACCGTGGGT	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1509G>A	X.37:g.129201179C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	108	72	0.666667	NM_001421		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																			C|0.813;T|0.187	0.187	strong		0.657	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		T	129201179	C	T	129201179	2	4	22	1	0	0	0	0	0	0	0	1	5056	639	23	1		1	ELF4	23	129201179	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	3901712	129201179	26069381	11290	16398										
AIFM1	9131	hgsc.bcm.edu	37	chrX	129283520	129283520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcattgtatcttttttcAtcctctttcatagtcttgta	3	9	6	0	rs1139851	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:129283520A>G	ENST00000287295.3	-	3	503	c.273T>C	c.(271-273)gaT>gaC	p.D91D	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.D87D|AIFM1_ENST00000535724.1_Silent_p.D4D	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	91					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	ATCTTTTTTCATCCTCTTTCA	0.383													G|||	1854	0.491126	0.5825	0.3588	3775	,	,		13492	0.1438		0.3171	False		,,,				2504	0.3793				p.D91D		Atlas-SNP	.											.	AIFM1	75	.	0			c.T273C						PASS	.	G	,,,	2712,1121		833,639,407,159,164	208	184	192		273,273,261,	3.7	0.1	X	dbSNP_86	192	2672,4056		387,1157,741,884,1131	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	AIFM1	NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,	1220,1796,1148,1043,1295	GG,GA,G,AA,A		39.7146,29.246,49.02	,,,	91/325,91/614,87/610,	129283520	5384,5177	2202	4300	6502	SO:0001819	synonymous_variant	9131	exon3			TTTTTCATCCTCT	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.273T>C	X.37:g.129283520A>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	141	58	0.411348	NM_001130847	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																			0|0.004;G|0.504	0.504	strong		0.383	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			G	129283520	A	G	129283520	2	3	22	1	0	0	0	0	0	0	0	1	426	214	8	2		2	AIFM1	23	129283520	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	82341	129283520	25987040	11291	16399										
ZNF280C	55609	hgsc.bcm.edu	37	chrX	129349295	129349295	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cattcaatgcacttgtgaatTccccgacgacaccttatgga	7	12	1	1	rs209238	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:129349295T>G	ENST00000370978.4	-	15	2004	c.1851A>C	c.(1849-1851)ggA>ggC	p.G617G		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	617					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)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACTTGTGAATTCCCCGACGAC	0.318													T|||	1969	0.521589	0.5681	0.353	3775	,	,		12569	0.2738		0.3151	False		,,,				2504	0.3885				p.G617G		Atlas-SNP	.											.	ZNF280C	63	.	0			c.A1851C						PASS	.	T		2618,1217		769,679,401,184,170	77	81	80		1851	3.2	0.8	X	dbSNP_79	80	2698,4030		394,1164,746,870,1126	no	coding-synonymous	ZNF280C	NM_017666.4		1163,1843,1147,1054,1296	GG,GT,G,TT,T		40.1011,31.734,49.6734		617/738	129349295	5316,5247	2203	4300	6503	SO:0001819	synonymous_variant	55609	exon15			GTGAATTCCCCGA	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1851A>C	X.37:g.129349295T>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	130	46	0.353846	NM_017666	A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	CCDS14622.1																																																																																			0|0.003;G|0.509	0.509	strong		0.318	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		G	129349295	T	G	129349295	2	3	22	1	0	0	0	0	0	0	0	1	17813	1770	62	5		5	ZNF280C	23	129349295	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	65775	129349295	25921265	11292	16400										
FRMD7	90167	hgsc.bcm.edu	37	chrX	131212487	131212487	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtgggctctacatagctatGtggacttgtcctttcctctg	10	10	2	0	rs61742429	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:131212487G>C	ENST00000298542.4	-	12	1733	c.1558C>G	c.(1558-1560)Cat>Gat	p.H520D	FRMD7_ENST00000370879.1_Missense_Mutation_p.H400D|FRMD7_ENST00000464296.1_Missense_Mutation_p.H505D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	520					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACATAGCTATGTGGACTTGTC	0.493													C|||	35	0.00927152	0.0257	0.0014	3775	,	,		13862	0.0		0.0	False		,,,				2504	0.0				p.H520D		Atlas-SNP	.											.	FRMD7	69	.	0			c.C1558G						PASS	.	C	ASP/HIS	75,3760		0,62,13,1570,558	164	160	162		1558	3.6	0.4	X	dbSNP_129	162	0,6728		0,0,0,2428,1872	yes	missense	FRMD7	NM_194277.2	81	0,62,13,3998,2430	CC,CG,C,GG,G		0.0,1.9557,0.71	benign	520/715	131212487	75,10488	2203	4300	6503	SO:0001583	missense	90167	exon12			AGCTATGTGGACT	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1558C>G	X.37:g.131212487G>C	ENSP00000298542:p.His520Asp	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	215	84	0.390698	NM_194277	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	3	0.0018083182640144665	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	0.001	-3.523968	0.00010	0.019557	0.0	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.84800	-1.9;-1.55;-1.67	4.55	3.59	0.41128	.	0.259811	0.32041	N	0.006663	T	0.37461	0.1004	N	0.01168	-0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49244	-0.8960	10	0.02654	T	1	.	4.1382	0.10181	0.1501:0.4756:0.2878:0.0865	rs61742429	505;520	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	D	400;520;505	ENSP00000359916:H400D;ENSP00000298542:H520D;ENSP00000417996:H505D	ENSP00000298542:H520D	H	-	1	0	FRMD7	131040168	0.727000	0.28069	0.447000	0.26932	0.007000	0.05969	0.526000	0.22971	1.017000	0.39495	-0.170000	0.13304	CAT	G|0.982;C|0.018	0.018	strong		0.493	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		C	131212487	G	C	131212487	3	2	22	1	0	0	0	0	1	0	0	0	6055	1377	48	4	590	4	FRMD7	23	131212487	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1863192	131212487	24058073	11293	16401										
FRMD7	90167	hgsc.bcm.edu	37	chrX	131212512	131212512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cttgtcctttcctctgctctAattggggaccatctgggcac	9	13	3	0	rs5977623	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:131212512A>G	ENST00000298542.4	-	12	1708	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	FRMD7_ENST00000370879.1_Silent_p.I391I|FRMD7_ENST00000464296.1_Silent_p.I496I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	511					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.I511I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCTCTAATTGGGGACC	0.488													G|||	984	0.260662	0.3578	0.0821	3775	,	,		13740	0.0843		0.2276	False		,,,				2504	0.1431				p.I511I		Atlas-SNP	.											.	FRMD7	69	.	1	Substitution - coding silent(1)	prostate(1)	c.T1533C						PASS	.	G		1689,2146		313,807,256,512,315	139	136	137		1533	1.1	0.4	X	dbSNP_114	137	2072,4656		243,1011,575,1174,1297	no	coding-synonymous	FRMD7	NM_194277.2		556,1818,831,1686,1612	GG,GA,G,AA,A		30.7967,44.0417,35.6054		511/715	131212512	3761,6802	2203	4300	6503	SO:0001819	synonymous_variant	90167	exon12			TGCTCTAATTGGG	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1533T>C	X.37:g.131212512A>G		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	207	88	0.425121	NM_194277	C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	CCDS35397.1																																																																																			A|0.670;0|0.003	.	strong		0.488	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		G	131212512	A	G	131212512	2	3	22	1	0	0	0	0	0	0	0	1	6055	358	13	2		2	FRMD7	23	131212512	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	25	131212512	24058048	11294	16402										
TFDP3	51270	hgsc.bcm.edu	37	chrX	132352230	132352230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggggcggctggtctggttctCgtccattaagaccttgagtt	14	9	2	2	rs28455963	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:132352230C>G	ENST00000310125.4	-	1	146	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	20					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTCTGGTTCTCGTCCATTAAG	0.483													G|||	383	0.101457	0.2247	0.0389	3775	,	,		13274	0.002		0.0288	False		,,,				2504	0.0286				p.E20Q		Atlas-SNP	.											.	TFDP3	92	.	0			c.G58C						PASS	.	G	GLN/GLU	304,905		40,182,42,295,133	63	47	52		58	0.2	0	X	dbSNP_125	52	85,2306		3,62,17,735,774	yes	missense	TFDP3	NM_016521.2	29	43,244,59,1030,907	GG,GC,G,CC,C		3.555,25.1447,10.8056	benign	20/406	132352230	389,3211	692	1591	2283	SO:0001583	missense	51270	exon1			GGTTCTCGTCCAT	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.58G>C	X.37:g.132352230C>G	ENSP00000385461:p.Glu20Gln	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	170	116	0.682353	NM_016521	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	154	0.09282700421940929	74	0.17703349282296652	13	0.03651685393258427	2	0.0034965034965034965	14	0.01907356948228883	G	0.008	-1.897626	0.00517	0.251447	0.03555	ENSG00000183434	ENST00000310125	T	0.19806	2.12	0.235	0.235	0.15431	.	.	.	.	.	T	0.00012	0.0000	N	0.00260	-1.75	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	7	0.02654	T	1	.	.	.	.	rs28455963	20	Q5H9I0	TFDP3_HUMAN	Q	20	ENSP00000385461:E20Q	ENSP00000385461:E20Q	E	-	1	0	TFDP3	132179896	0.988000	0.35896	0.016000	0.15963	0.016000	0.09150	0.556000	0.23438	-0.705000	0.05035	-0.699000	0.03677	GAG	C|0.877;G|0.123	0.123	strong		0.483	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		G	132352230	C	G	132352230	3	3	22	1	0	0	0	0	1	0	0	0	15796	893	31	4	1163	4	TFDP3	23	132352230	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1139718	132352230	22918330	11295	16403										
GPC4	2239	hgsc.bcm.edu	37	chrX	132438872	132438872	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttcttggcctgtttcagtttCtccttgacatcagtaaccta	6	11	4	1	rs1129980	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:132438872C>A	ENST00000370828.3	-	7	1697	c.1173G>T	c.(1171-1173)gaG>gaT	p.E391D	GPC4_ENST00000535467.1_Missense_Mutation_p.E321D	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	391			E -> D (in dbSNP:rs1129980). {ECO:0000269|PubMed:10814714, ECO:0000269|PubMed:9787072, ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTTCAGTTTCTCCTTGACAT	0.433													C|||	1732	0.458808	0.5053	0.1787	3775	,	,		15716	0.3492		0.2177	False		,,,				2504	0.3773				p.E391D		Atlas-SNP	.											.	GPC4	58	.	0			c.G1173T						PASS	.	C	ASP/GLU	2289,1546		593,784,319,255,252	178	150	160		1173	3.4	1	X	dbSNP_86	160	1986,4742		209,1010,558,1209,1314	yes	missense	GPC4	NM_001448.2	45	802,1794,877,1464,1566	AA,AC,A,CC,C		29.5184,40.3129,40.4715	benign	391/557	132438872	4275,6288	2203	4300	6503	SO:0001583	missense	2239	exon7			CAGTTTCTCCTTG	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1173G>T	X.37:g.132438872C>A	ENSP00000359864:p.Glu391Asp	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	121	47	0.38843	NM_001448	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	CCDS14637.1	654	0.39421338155515373	173	0.4914772727272727	50	0.15822784810126583	117	0.26	117	0.17410714285714285	C	12.01	1.808215	0.31961	0.596871	0.295184	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.52526	0.66;0.66	5.13	3.36	0.38483	.	0.046337	0.85682	D	0.000000	T	0.00012	0.0000	L	0.43152	1.355	0.24745	P	0.99301708	B	0.24483	0.104	B	0.30782	0.12	T	0.45279	-0.9272	9	0.23891	T	0.37	-19.7874	7.2029	0.25891	0.0:0.643:0.0:0.357	rs1129980;rs1805046;rs52808097;rs57817524;rs1129980	391	O75487	GPC4_HUMAN	D	391;385;321	ENSP00000359864:E391D;ENSP00000444959:E321D	ENSP00000359864:E391D	E	-	3	2	GPC4	132266538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.974000	0.29436	0.948000	0.37687	0.594000	0.82650	GAG	C|0.574;A|0.426	0.426	strong		0.433	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		A	132438872	C	A	132438872	3	1	22	1	0	0	0	0	1	0	0	0	6600	912	32	4	509	4	GPC4	23	132438872	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	86642	132438872	22831688	11296	16404										
GPC3	2719	hgsc.bcm.edu	37	chrX	132670269	132670269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atctcgttgtccttcggagtTgcctgctgactgtttccagg	11	11	1	1	rs61754631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:132670269T>C	ENST00000370818.3	-	8	2071	c.1626A>G	c.(1624-1626)gcA>gcG	p.A542A	GPC3_ENST00000543339.1_Silent_p.A488A|GPC3_ENST00000394299.2_Silent_p.A565A	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	542					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCTTCGGAGTTGCCTGCTGAC	0.502			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				C|||	203	0.0537748	0.1505	0.0058	3775	,	,		12135	0.0		0.0	False		,,,				2504	0.0				p.A565A		Atlas-SNP	.	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88	.	0			c.A1695G						PASS	.	C	,,,	741,3094		68,494,111,1070,460	274	217	236		1695,1578,1464,1626	2.1	0	X	dbSNP_129	236	5,6723		0,2,3,2426,1869	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPC3	NM_001164617.1,NM_001164618.1,NM_001164619.1,NM_004484.3	,,,	68,496,114,3496,2329	CC,CT,C,TT,T		0.0743,19.322,7.0624	,,,	565/604,526/565,488/527,542/581	132670269	746,9817	2203	4300	6503	SO:0001819	synonymous_variant	2719	exon9	Familial Cancer Database	SGBS	CGGAGTTGCCTGC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1626A>G	X.37:g.132670269T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	193	119	0.61658	NM_001164617	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1																																																																																			T|0.927;C|0.073	0.073	strong		0.502	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		C	132670269	T	C	132670269	2	2	22	1	0	0	0	0	0	0	0	1	6599	1799	63	2		2	GPC3	23	132670269	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	231397	132670269	22600291	11297	16405										
GPC3	2719	hgsc.bcm.edu	37	chrX	132730541	132730541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccaatgcactcatcttcatcAtcaccgcagtctccactttc	3	17	6	0	rs2314298	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:132730541A>G	ENST00000370818.3	-	7	1945	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D	GPC3_ENST00000543339.1_Silent_p.D446D|GPC3_ENST00000394299.2_Silent_p.D523D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	500					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCTTCATCATCACCGCAGT	0.448			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				a|||	247	0.0654305	0.1823	0.0086	3775	,	,		13843	0.0		0.0	False		,,,				2504	0.0				p.D523D		Atlas-SNP	.	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88	.	0			c.T1569C						PASS	.	A	,,,	844,2991		83,548,130,1001,441	240	203	216		1569,1452,1338,1500	-8.8	0	X	dbSNP_100	216	9,6719		0,6,3,2422,1869	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPC3	NM_001164617.1,NM_001164618.1,NM_001164619.1,NM_004484.3	,,,	83,554,133,3423,2310	GG,GA,G,AA,A		0.1338,22.0078,8.0754	,,,	523/604,484/565,446/527,500/581	132730541	853,9710	2203	4300	6503	SO:0001819	synonymous_variant	2719	exon8	Familial Cancer Database	SGBS	TTCATCATCACCG	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1500T>C	X.37:g.132730541A>G		Somatic	421	0	0		WXS	Illumina HiSeq	Phase_I	461	297	0.644252	NM_001164617	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1	88	0.05304400241109102	57	0.1313364055299539	1	0.002777777777777778	0	0.0	0	0.0	a	2.240	-0.373954	0.05034	0.220078	0.001338	ENSG00000147257	ENST00000406757	.	.	.	4.73	-8.77	0.00827	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.21290	P	0.99973057	.	.	.	.	.	.	T	0.40997	-0.9533	3	.	.	.	.	17.6231	0.88087	0.3063:0.0:0.6937:0.0	rs2314298;rs60128560;rs2314298	.	.	.	T	230	.	.	M	-	2	0	GPC3	132558207	0.013000	0.17824	0.034000	0.17996	0.609000	0.37215	-1.591000	0.02100	-2.800000	0.00352	-3.172000	0.00057	ATG	A|0.905;G|0.095	0.095	strong		0.448	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		G	132730541	A	G	132730541	2	3	22	1	0	0	0	0	0	0	0	1	6599	214	8	2		2	GPC3	23	132730541	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	60272	132730541	22540019	11298	16406										
CCDC160	347475	hgsc.bcm.edu	37	chrX	133378851	133378851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atggatgctagaagaaaacaCtggaaggagaatatgtttac	11	4	0	3			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:133378851C>T	ENST00000517294.1	+	3	404	c.21C>T	c.(19-21)caC>caT	p.H7H	CCDC160_ENST00000370809.4_Silent_p.H7H			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	7										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GAAGAAAACACTGGAAGGAGA	0.373																																					p.H7H		Atlas-SNP	.											.	CCDC160	38	.	0			c.C21T						PASS	.						20	18	19					X																	133378851		1825	4074	5899	SO:0001819	synonymous_variant	347475	exon2			AAAACACTGGAAG	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.21C>T	X.37:g.133378851C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	146	91	0.623288	NM_001101357		Silent	SNP	ENST00000517294.1	37	CCDS48171.1																																																																																			.	.	none		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		T	133378851	C	T	133378851	2	4	22	1	0	0	0	0	0	0	0	1	2792	564	20	2		2	CCDC160	23	133378851	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	648310	133378851	21891709	11299	16407										
ZNF449	203523	hgsc.bcm.edu	37	chrX	134483151	134483151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	atgggacctgcccaggaggcCccagtagcagaggcatggat	15	11	0	1	rs2286479	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:134483151C>T	ENST00000339249.4	+	3	611	c.471C>T	c.(469-471)gcC>gcT	p.A157A		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	157					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGAGGCCCCAGTAGCAG	0.577													C|||	580	0.153642	0.2814	0.0994	3775	,	,		13215	0.1161		0.007	False		,,,				2504	0.0153				p.A157A		Atlas-SNP	.											.	ZNF449	68	.	0			c.C471T						PASS	.	C		1170,2665		160,669,181,803,390	170	141	150		471	2.7	0	X	dbSNP_100	150	76,6652		0,63,13,2365,1859	no	coding-synonymous	ZNF449	NM_152695.5		160,732,194,3168,2249	TT,TC,T,CC,C		1.1296,30.5085,11.7959		157/519	134483151	1246,9317	2203	4300	6503	SO:0001819	synonymous_variant	203523	exon3			GGAGGCCCCAGTA	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.471C>T	X.37:g.134483151C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	109	62	0.568807	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	CCDS14649.1																																																																																			0|0.003;T|0.143	0.143	strong		0.577	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		T	134483151	C	T	134483151	2	4	22	1	0	0	0	0	0	0	0	1	17917	610	22	2		2	ZNF449	23	134483151	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1104300	134483151	20787409	11300	16408										
DDX26B	203522	hgsc.bcm.edu	37	chrX	134713861	134713861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagtggattctctgtctgaCgacttcacaagtctcagcaa	8	11	4	1	rs2298302	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:134713861C>T	ENST00000370752.4	+	15	2491	c.2157C>T	c.(2155-2157)gaC>gaT	p.D719D	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	719										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTCTGACGACTTCACAA	0.448													C|||	455	0.12053	0.1952	0.0231	3775	,	,		15332	0.0694		0.0139	False		,,,				2504	0.0992				p.D719D		Atlas-SNP	.											.	DDX26B	130	.	0			c.C2157T						PASS	.	C		922,2913		103,586,130,943,441	80	72	75		2157	-4.2	0.1	X	dbSNP_100	75	157,6571		3,101,50,2324,1822	no	coding-synonymous	DDX26B	NM_182540.4		106,687,180,3267,2263	TT,TC,T,CC,C		2.3335,24.0417,10.2149		719/862	134713861	1079,9484	2203	4300	6503	SO:0001819	synonymous_variant	203522	exon15			GTCTGACGACTTC	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2157C>T	X.37:g.134713861C>T		Somatic	427	1	0.00234192		WXS	Illumina HiSeq	Phase_I	503	499	0.992048	NM_182540	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	CCDS35401.1																																																																																			C|0.893;0|0.003	.	strong		0.448	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		T	134713861	C	T	134713861	2	4	22	1	0	0	0	0	0	0	0	1	4353	535	19	1		1	DDX26B	23	134713861	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	230710	134713861	20556699	11301	16409										
GPR112	139378	hgsc.bcm.edu	37	chrX	135426693	135426693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgtctcaaagcatacctatAtttgcaactgattacacaac	4	10	1	1	rs4829829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135426693A>G	ENST00000394143.1	+	6	1119	c.828A>G	c.(826-828)atA>atG	p.I276M	GPR112_ENST00000412101.1_Missense_Mutation_p.I71M|GPR112_ENST00000370652.1_Missense_Mutation_p.I276M|GPR112_ENST00000287534.4_Missense_Mutation_p.I213M|GPR112_ENST00000394141.1_Missense_Mutation_p.I71M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	276			I -> M (in dbSNP:rs4829829). {ECO:0000269|Ref.2}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCATACCTATATTTGCAACTG	0.363													a|||	1702	0.450861	0.4228	0.3545	3775	,	,		15401	0.2024		0.3738	False		,,,				2504	0.3241				p.I276M		Atlas-SNP	.											.	GPR112	459	.	0			c.A828G						PASS	.		MET/ILE	2087,1748		484,812,307,336,264	199	154	169		828	-8.6	0	X	dbSNP_111	169	3203,3525		555,1185,908,688,964	yes	missense	GPR112	NM_153834.3	10	1039,1997,1215,1024,1228	GG,GA,G,AA,A		47.607,45.5802,49.9195	benign	276/3081	135426693	5290,5273	2203	4300	6503	SO:0001583	missense	139378	exon6			ACCTATATTTGCA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.828A>G	X.37:g.135426693A>G	ENSP00000377699:p.Ile276Met	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	229	164	0.716157	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	710	0.4279686558167571	138	0.372972972972973	80	0.27972027972027974	76	0.15702479338842976	187	0.3191126279863481	a	2.435	-0.329891	0.05314	0.544198	0.47607	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30448	1.55;1.55;1.53;1.66;1.53	4.27	-8.55	0.00908	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.43228	-0.9404	8	0.37606	T	0.19	.	0.3544	0.00354	0.2435:0.2422:0.2647:0.2496	rs4829829;rs59872615;rs4829829	213;71;276	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	276;276;71;213;71	ENSP00000377699:I276M;ENSP00000359686:I276M;ENSP00000416526:I71M;ENSP00000287534:I213M;ENSP00000377697:I71M	ENSP00000287534:I213M	I	+	3	3	GPR112	135254359	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	-0.872000	0.04219	-2.190000	0.00757	-0.485000	0.04761	ATA	A|0.517;0|0.025	.	strong		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135426693	A	G	135426693	3	3	22	1	0	0	0	0	1	0	0	0	6629	439	16	2	838	2	GPR112	23	135426693	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	712832	135426693	19843867	11302	16410										
GPR112	139378	hgsc.bcm.edu	37	chrX	135426968	135426968	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tactgaaatctttcaaccacCtacaccttctaatttcctat	1	13	3	1	rs5930931	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135426968C>A	ENST00000394143.1	+	6	1394	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	GPR112_ENST00000412101.1_Missense_Mutation_p.P163H|GPR112_ENST00000370652.1_Missense_Mutation_p.P368H|GPR112_ENST00000287534.4_Missense_Mutation_p.P305H|GPR112_ENST00000394141.1_Missense_Mutation_p.P163H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	368			P -> H (in dbSNP:rs5930931). {ECO:0000269|Ref.2}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P368L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTCAACCACCTACACCTTCT	0.368													c|||	1700	0.450331	0.4213	0.3545	3775	,	,		16744	0.2024		0.3738	False		,,,				2504	0.3241				p.P368H		Atlas-SNP	.											.	GPR112	459	.	1	Substitution - Missense(1)	prostate(1)	c.C1103A						PASS	.		HIS/PRO	2081,1754		479,816,307,337,264	84	78	80		1103	2.1	0	X	dbSNP_114	80	3200,3528		554,1184,908,690,964	yes	missense	GPR112	NM_153834.3	77	1033,2000,1215,1027,1228	AA,AC,A,CC,C		47.5624,45.7366,49.9953	possibly-damaging	368/3081	135426968	5281,5282	2203	4300	6503	SO:0001583	missense	139378	exon6			AACCACCTACACC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1103C>A	X.37:g.135426968C>A	ENSP00000377699:p.Pro368His	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	111	68	0.612613	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	706	0.4255575647980711	138	0.3689839572192513	80	0.27972027972027974	76	0.15702479338842976	186	0.3174061433447099	c	2.747	-0.260836	0.05791	0.542634	0.475624	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29397	1.61;1.61;1.57;1.71;1.57	3.95	2.08	0.27032	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D;P;P	0.55605	0.972;0.924;0.875	P;P;B	0.49047	0.599;0.46;0.271	T	0.44544	-0.9321	8	0.66056	D	0.02	.	8.6564	0.34066	0.3924:0.6076:0.0:0.0	rs5930931;rs58573078;rs5930931	305;163;368	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	368;368;163;305;163	ENSP00000377699:P368H;ENSP00000359686:P368H;ENSP00000416526:P163H;ENSP00000287534:P305H;ENSP00000377697:P163H	ENSP00000287534:P305H	P	+	2	0	GPR112	135254634	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.303000	0.19210	0.238000	0.21222	-0.519000	0.04390	CCT	0|0.025;A|0.455	0.455	strong		0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135426968	C	A	135426968	3	1	22	1	0	0	0	0	1	0	0	0	6629	681	24	4	1113	4	GPR112	23	135426968	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	275	135426968	19843592	11303	16411										
GPR112	139378	hgsc.bcm.edu	37	chrX	135429503	135429503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacctctgttgttgatgagaCcacaccctcacacatctctg	7	14	3	2	rs4829830	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135429503C>A	ENST00000394143.1	+	6	3929	c.3638C>A	c.(3637-3639)aCc>aAc	p.T1213N	GPR112_ENST00000412101.1_Missense_Mutation_p.T1008N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1213N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1150N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1008N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1213			T -> N (in dbSNP:rs4829830).		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTGATGAGACCACACCCTCA	0.473													c|||	1760	0.466225	0.4289	0.3573	3775	,	,		15390	0.246		0.3797	False		,,,				2504	0.3221				p.T1213N		Atlas-SNP	.											.	GPR112	459	.	0			c.C3638A						PASS	.		ASN/THR	2122,1713		502,805,313,325,258	214	183	193		3638	-1.5	0	X	dbSNP_111	193	3220,3508		566,1176,912,686,960	yes	missense	GPR112	NM_153834.3	65	1068,1981,1225,1011,1218	AA,AC,A,CC,C		47.8597,44.6675,49.4272	benign	1213/3081	135429503	5342,5221	2203	4300	6503	SO:0001583	missense	139378	exon6			ATGAGACCACACC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3638C>A	X.37:g.135429503C>A	ENSP00000377699:p.Thr1213Asn	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	232	137	0.590517	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	746	0.4496684749849307	138	0.372972972972973	83	0.2902097902097902	99	0.21063829787234042	190	0.3242320819112628	c	6.546	0.469051	0.12461	0.553325	0.478597	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33865	1.43;1.43;1.39;1.52;1.39	2.98	-1.46	0.08800	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.15930	0.015;0.001;0.001	B;B;B	0.14578	0.011;0.003;0.001	T	0.46190	-0.9209	8	0.37606	T	0.19	.	0.3457	0.00341	0.2044:0.3206:0.1987:0.2763	rs4829830;rs58174019;rs4829830	1150;1008;1213	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	1213;1213;1008;1150;1008	ENSP00000377699:T1213N;ENSP00000359686:T1213N;ENSP00000416526:T1008N;ENSP00000287534:T1150N;ENSP00000377697:T1008N	ENSP00000287534:T1150N	T	+	2	0	GPR112	135257169	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.312000	0.08113	-0.347000	0.08299	-0.313000	0.08912	ACC	0|0.015;A|0.479	0.479	strong		0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135429503	C	A	135429503	3	1	22	1	0	0	0	0	1	0	0	0	6629	507	18	4	3648	4	GPR112	23	135429503	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2535	135429503	19841057	11304	16412										
GPR112	139378	hgsc.bcm.edu	37	chrX	135430044	135430044	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccagcatatactcccaggacTgtggaaatgatagtaaactc	8	10	0	1	rs877761	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135430044T>C	ENST00000394143.1	+	6	4470	c.4179T>C	c.(4177-4179)acT>acC	p.T1393T	GPR112_ENST00000370652.1_Silent_p.T1393T|GPR112_ENST00000412101.1_Silent_p.T1188T|GPR112_ENST00000287534.4_Silent_p.T1330T|GPR112_ENST00000394141.1_Silent_p.T1188T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1393					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCCCAGGACTGTGGAAATGA	0.448													c|||	2014	0.53351	0.5983	0.3847	3775	,	,		16408	0.255		0.3817	False		,,,				2504	0.3221				p.T1393T		Atlas-SNP	.											.	GPR112	459	.	0			c.T4179C						PASS	.			2878,957		910,628,430,94,141	170	160	163		4179	-1.4	0	X	dbSNP_86	163	3231,3497		571,1175,914,682,958	no	coding-synonymous	GPR112	NM_153834.3		1481,1803,1344,776,1099	CC,CT,C,TT,T		48.0232,24.9544,42.1661		1393/3081	135430044	6109,4454	2203	4300	6503	SO:0001819	synonymous_variant	139378	exon6			CAGGACTGTGGAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4179T>C	X.37:g.135430044T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	178	108	0.606742	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																			T|0.432;0|0.003	.	strong		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135430044	T	C	135430044	2	2	22	1	0	0	0	0	0	0	0	1	6629	1567	55	3		3	GPR112	23	135430044	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	541	135430044	19840516	11305	16413										
GPR112	139378	hgsc.bcm.edu	37	chrX	135430483	135430483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caatagtgataactaaatctTctaaaacaatgcatccaggt	5	8	2	1	rs912002	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135430483T>C	ENST00000394143.1	+	6	4909	c.4618T>C	c.(4618-4620)Tct>Cct	p.S1540P	GPR112_ENST00000412101.1_Missense_Mutation_p.S1335P|GPR112_ENST00000370652.1_Missense_Mutation_p.S1540P|GPR112_ENST00000287534.4_Missense_Mutation_p.S1477P|GPR112_ENST00000394141.1_Missense_Mutation_p.S1335P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1540			S -> P (in dbSNP:rs912002).		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTAAATCTTCTAAAACAAT	0.418													t|||	1764	0.467285	0.4251	0.3573	3775	,	,		14599	0.255		0.3797	False		,,,				2504	0.3221				p.S1540P		Atlas-SNP	.											.	GPR112	459	.	0			c.T4618C						PASS	.		PRO/SER	2110,1725		493,813,311,326,260	96	94	95		4618	1.7	0.1	X	dbSNP_86	95	3223,3505		567,1177,912,684,960	yes	missense	GPR112	NM_153834.3	74	1060,1990,1223,1010,1220	CC,CT,C,TT,T		47.9043,44.9804,49.5124	probably-damaging	1540/3081	135430483	5333,5230	2203	4300	6503	SO:0001583	missense	139378	exon6			AAATCTTCTAAAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4618T>C	X.37:g.135430483T>C	ENSP00000377699:p.Ser1540Pro	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	163	111	0.680982	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	754	0.45449065702230257	137	0.37027027027027026	83	0.2902097902097902	103	0.22391304347826088	190	0.3242320819112628	t	14.52	2.560180	0.45590	0.550196	0.479043	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40756	1.06;1.06;1.02;1.13;1.02	3.02	1.66	0.24008	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.80764	0.986;0.994;0.987	T	0.44483	-0.9325	8	0.87932	D	0	.	4.2365	0.10628	0.3093:0.0:0.0:0.6907	rs912002;rs52799687;rs61339577;rs912002	1477;1335;1540	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1540;1540;1335;1477;1335	ENSP00000377699:S1540P;ENSP00000359686:S1540P;ENSP00000416526:S1335P;ENSP00000287534:S1477P;ENSP00000377697:S1335P	ENSP00000287534:S1477P	S	+	1	0	GPR112	135258149	0.316000	0.24580	0.086000	0.20670	0.250000	0.25880	0.927000	0.28818	1.195000	0.43115	0.378000	0.23410	TCT	0|0.015;C|0.478	0.478	strong		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135430483	T	C	135430483	3	2	22	1	0	0	0	0	1	0	0	0	6629	1783	62	2	4628	2	GPR112	23	135430483	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	439	135430483	19840077	11306	16414										
GPR112	139378	hgsc.bcm.edu	37	chrX	135431236	135431236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttaaaacaaccaccaattgcTtttcttctaatactagaaag	3	9	2	1	rs5930932	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135431236T>C	ENST00000394143.1	+	6	5662	c.5371T>C	c.(5371-5373)Ttt>Ctt	p.F1791L	GPR112_ENST00000412101.1_Missense_Mutation_p.F1586L|GPR112_ENST00000370652.1_Missense_Mutation_p.F1791L|GPR112_ENST00000287534.4_Missense_Mutation_p.F1728L|GPR112_ENST00000394141.1_Missense_Mutation_p.F1586L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1791			F -> L (in dbSNP:rs5930932).		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F1791L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCAATTGCTTTTCTTCTAA	0.383													c|||	1834	0.485828	0.4569	0.3617	3775	,	,		15609	0.2778		0.3797	False		,,,				2504	0.3241				p.F1791L		Atlas-SNP	.											.	GPR112	459	.	1	Substitution - Missense(1)	prostate(1)	c.T5371C						PASS	.		LEU/PHE	2257,1576		567,784,339,280,232	133	133	133		5371	-1.8	0	X	dbSNP_114	133	3229,3499		567,1181,914,680,958	yes	missense	GPR112	NM_153834.3	22	1134,1965,1253,960,1190	CC,CT,C,TT,T		47.9935,41.1166,48.0542	benign	1791/3081	135431236	5486,5075	2202	4300	6502	SO:0001583	missense	139378	exon6			AATTGCTTTTCTT	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5371T>C	X.37:g.135431236T>C	ENSP00000377699:p.Phe1791Leu	Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	313	170	0.543131	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	786	0.47377938517179025	152	0.4175824175824176	84	0.29577464788732394	112	0.24669603524229075	190	0.3242320819112628	c	0.020	-1.432654	0.01108	0.588834	0.479935	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.20463	2.11;2.11;2.07;2.25;2.07	3.63	-1.78	0.07957	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37291	-0.9712	8	0.21014	T	0.42	.	5.3382	0.15969	0.0:0.2802:0.1606:0.5593	rs5930932;rs6635265;rs52832481;rs60264923;rs5930932	1728;1586;1791	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1791;1791;1586;1728;1586	ENSP00000377699:F1791L;ENSP00000359686:F1791L;ENSP00000416526:F1586L;ENSP00000287534:F1728L;ENSP00000377697:F1586L	ENSP00000287534:F1728L	F	+	1	0	GPR112	135258902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.934000	0.03955	-1.013000	0.03383	-1.690000	0.00728	TTT	0|0.015;C|0.499	0.499	strong		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135431236	T	C	135431236	3	2	22	1	0	0	0	0	1	0	0	0	6629	1609	56	3	5381	3	GPR112	23	135431236	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	753	135431236	19839324	11307	16415										
GPR112	139378	hgsc.bcm.edu	37	chrX	135431358	135431358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccatccagtgcaactctaccCtctttgacatcatttgttta	4	13	3	1	rs5930933	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135431358C>T	ENST00000394143.1	+	6	5784	c.5493C>T	c.(5491-5493)ccC>ccT	p.P1831P	GPR112_ENST00000370652.1_Silent_p.P1831P|GPR112_ENST00000412101.1_Silent_p.P1626P|GPR112_ENST00000287534.4_Silent_p.P1768P|GPR112_ENST00000394141.1_Silent_p.P1626P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1831					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCTACCCTCTTTGACAT	0.433													c|||	1787	0.473377	0.4236	0.3573	3775	,	,		16215	0.2778		0.3797	False		,,,				2504	0.3241				p.P1831P		Atlas-SNP	.											.	GPR112	459	.	0			c.C5493T						PASS	.			2112,1723		495,811,311,326,260	143	125	131		5493	0.4	0	X	dbSNP_114	131	3228,3500		567,1180,914,681,958	yes	coding-synonymous	GPR112	NM_153834.3		1062,1991,1225,1007,1218	TT,TC,T,CC,C		47.9786,44.9283,49.4462		1831/3081	135431358	5340,5223	2203	4300	6503	SO:0001819	synonymous_variant	139378	exon6			TCTACCCTCTTTG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5493C>T	X.37:g.135431358C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	167	98	0.586826	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																			C|0.507;0|0.003	.	strong		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135431358	C	T	135431358	2	4	22	1	0	0	0	0	0	0	0	1	6629	668	24	2		2	GPR112	23	135431358	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	122	135431358	19839202	11308	16416										
HTATSF1	27336	hgsc.bcm.edu	37	chrX	135593167	135593167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaactgcaactggaatggcGtttgaagaacctatagatga	11	6	0	4	rs1058376	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:135593167G>A	ENST00000218364.4	+	9	1437	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	HTATSF1_ENST00000535601.1_Silent_p.A421A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	421	Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTGGAATGGCGTTTGAAGAAC	0.448													g|||	513	0.135894	0.329	0.0447	3775	,	,		14100	0.0337		0.0089	False		,,,				2504	0.0041				p.A421A		Atlas-SNP	.											.	HTATSF1	66	.	0			c.G1263A						PASS	.	A	,	1427,2408		222,748,235,662,336	115	126	123		1263,1263	-3.1	0	X	dbSNP_86	123	73,6655		0,49,24,2379,1848	no	coding-synonymous,coding-synonymous	HTATSF1	NM_001163280.1,NM_014500.4	,	222,797,259,3041,2184	AA,AG,A,GG,G		1.085,37.2099,14.2005	,	421/756,421/756	135593167	1500,9063	2203	4300	6503	SO:0001819	synonymous_variant	27336	exon10			AATGGCGTTTGAA	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1263G>A	X.37:g.135593167G>A		Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	252	251	0.996032	NM_001163280	D3DWG9|Q59G06|Q99730	Silent	SNP	ENST00000218364.4	37	CCDS14657.1																																																																																			0|0.004;A|0.148	0.148	strong		0.448	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		A	135593167	G	A	135593167	2	1	22	1	0	0	0	0	0	0	0	1	7433	1132	40	1		1	HTATSF1	23	135593167	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	161809	135593167	19677393	11309	16417										
GPR101	83550	hgsc.bcm.edu	37	chrX	136112707	136112707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgttacgacgactgggtgggAggctctccgggatgttcact	15	9	2	0	rs5931046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:136112707A>G	ENST00000298110.1	-	1	1126	c.1127T>C	c.(1126-1128)cTc>cCc	p.L376P		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	376			L -> P (in dbSNP:rs5931046).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACTGGGTGGGAGGCTCTCCGG	0.507													A|||	809	0.214305	0.1952	0.0879	3775	,	,		16325	0.1022		0.1302	False		,,,				2504	0.2618				p.L376P		Atlas-SNP	.											.	GPR101	96	.	0			c.T1127C						PASS	.	A	PRO/LEU	820,3015		90,506,134,1036,437	208	168	182		1127	2.8	0.3	X	dbSNP_114	182	993,5735		44,606,299,1778,1573	yes	missense	GPR101	NM_054021.1	98	134,1112,433,2814,2010	GG,GA,G,AA,A		14.7592,21.382,17.1637	benign	376/509	136112707	1813,8750	2203	4300	6503	SO:0001583	missense	83550	exon1			GGTGGGAGGCTCT	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1127T>C	X.37:g.136112707A>G	ENSP00000298110:p.Leu376Pro	Somatic	469	1	0.0021322		WXS	Illumina HiSeq	Phase_I	480	170	0.354167	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	263	0.15852923447860157	69	0.1597222222222222	22	0.0658682634730539	29	0.053703703703703705	57	0.08073654390934844	A	11.49	1.655079	0.29425	0.21382	0.147592	ENSG00000165370	ENST00000298110	T	0.65732	-0.17	5.37	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.939181	0.08641	N	0.915523	T	0.00073	0.0002	N	0.22421	0.69	0.58432	P	5.999999999950489E-6	P	0.42123	0.771	P	0.52514	0.701	T	0.06127	-1.0844	9	0.34782	T	0.22	-2.6823	8.445	0.32836	0.6002:0.3998:0.0:0.0	rs5931046;rs6635366;rs58517641;rs5931046	376	Q96P66	GP101_HUMAN	P	376	ENSP00000298110:L376P	ENSP00000298110:L376P	L	-	2	0	GPR101	135940373	0.023000	0.18921	0.257000	0.24404	0.938000	0.57974	0.345000	0.19979	0.768000	0.33290	0.430000	0.28490	CTC	A|0.808;0|0.012	.	strong		0.507	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			G	136112707	A	G	136112707	3	3	22	1	0	0	0	0	1	0	0	0	6622	304	11	3	402	3	GPR101	23	136112707	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	519540	136112707	19157853	11310	16418										
F9	2158	hgsc.bcm.edu	37	chrX	138643939	138643939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtcttccacaaagggagatcAgctttagttcttcagtacct	8	10	4	1	rs112057482	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:138643939A>G	ENST00000218099.2	+	8	1102	c.1095A>G	c.(1093-1095)tcA>tcG	p.S365S	F9_ENST00000394090.2_Silent_p.S327S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	365	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AAGGGAGATCAGCTTTAGTTC	0.438													A|||	42	0.0111258	0.0287	0.0058	3775	,	,		14652	0.0		0.0	False		,,,				2504	0.0				p.S365S		Atlas-SNP	.											.	F9	107	.	0			c.A1095G	GRCh37	CD010617	F9	D	rs112057482	PASS	.	A		127,3708		1,104,21,1527,550	141	117	125		1095	-9.5	0	X	dbSNP_132	125	1,6727		0,1,0,2427,1872	no	coding-synonymous	F9	NM_000133.3		1,105,21,3954,2422	GG,GA,G,AA,A		0.0149,3.3116,1.2118		365/462	138643939	128,10435	2203	4300	6503	SO:0001819	synonymous_variant	2158	exon8			GAGATCAGCTTTA	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1095A>G	X.37:g.138643939A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	136	85	0.625	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	CCDS14666.1																																																																																			A|0.989;G|0.011	0.011	strong		0.438	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			G	138643939	A	G	138643939	2	3	22	1	0	0	0	0	0	0	0	1	5351	175	7	3		3	F9	23	138643939	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	2531232	138643939	16626621	11311	16419										
SPANXD	64648	hgsc.bcm.edu	37	chrX	140785714	140785714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctttcgggcgtggtcattcaCcagttcctctggagatgttc	11	11	3	1	rs5953618		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:140785714C>G	ENST00000370515.3	-	2	535	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	68			V -> L (in dbSNP:rs5953618).			cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TGGTCATTCACCAGTTCCTCT	0.458																																					p.V68L		Atlas-SNP	.											.	.	.	.	0			c.G202C						PASS	.						243	201	215					X																	140785714		2202	4287	6489	SO:0001583	missense	171489	exon2			CATTCACCAGTTC	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.202G>C	X.37:g.140785714C>G	ENSP00000359546:p.Val68Leu	Somatic	633	1	0.00157978		WXS	Illumina HiSeq	Phase_I	1176	235	0.19983	NM_145665	Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.536097	0.00942	.	.	ENSG00000196406	ENST00000370515	T	0.07021	3.23	.	.	.	.	.	.	.	.	T	0.02888	0.0086	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46162	-0.9211	6	0.05833	T	0.94	.	.	.	.	rs5953618;rs17855378;rs17855767	68	Q9BXN6	SPNXD_HUMAN	L	68	ENSP00000359546:V68L	ENSP00000359546:V68L	V	-	1	0	SPANXD	140613380	0.017000	0.18338	0.016000	0.15963	0.015000	0.08874	0.064000	0.14437	0.068000	0.16574	0.068000	0.15388	GTG	C|1.000;|0.000	.	weak		0.458	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			G	140785714	C	G	140785714	3	3	22	1	0	0	0	0	1	0	0	0	14988	507	18	4	95	4	SPANXD	23	140785714	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	2141775	140785714	14484846	11312	16420										
MAGEC3	139081	hgsc.bcm.edu	37	chrX	140967165	140967165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaggcacaggctacacccttTcccttcctgccgtcagccct	8	18	1	0	rs372869684|rs11095909	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:140967165T>C	ENST00000298296.1	+	3	463	c.463T>C	c.(463-465)Tcc>Ccc	p.S155P	MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	155			S -> P (in dbSNP:rs11095909).							NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTACACCCTTTCCCTTCCTGC	0.572													C|||	1658	0.439205	0.5348	0.3458	3775	,	,		10239	0.3651		0.0676	False		,,,				2504	0.2812				p.S155P		Atlas-SNP	.											.	MAGEC3	228	.	0			c.T463C						PASS	.	C	PRO/SER	2201,1453		686,544,285,357,195	37	32	33		463	-1.4	0	X	dbSNP_120	33	564,6162		18,376,152,2034,1718	yes	missense	MAGEC3	NM_138702.1	74	704,920,437,2391,1913	CC,CT,C,TT,T		8.3854,39.7646,26.6378	benign	155/644	140967165	2765,7615	2067	4298	6365	SO:0001583	missense	139081	exon3			ACCCTTTCCCTTC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.463T>C	X.37:g.140967165T>C	ENSP00000298296:p.Ser155Pro	Somatic	421	1	0.0023753		WXS	Illumina HiSeq	Phase_I	458	457	0.997817	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	594	0.35804701627486435	178	0.5028248587570622	77	0.2532894736842105	130	0.29545454545454547	37	0.05096418732782369	C	0.009	-1.811288	0.00600	0.602354	0.083854	ENSG00000165509	ENST00000298296	T	0.06528	3.29	0.994	-1.44	0.08856	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	8	0.20519	T	0.43	.	0.3624	0.00366	0.2444:0.308:0.2421:0.2055	rs11095909	155	Q8TD91	MAGC3_HUMAN	P	155	ENSP00000298296:S155P	ENSP00000298296:S155P	S	+	1	0	MAGEC3	140794831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.198000	0.01239	-1.544000	0.01721	-2.375000	0.00234	TCC	T|0.639;C|0.361	0.361	strong		0.572	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		C	140967165	T	C	140967165	3	2	22	1	0	0	0	0	1	0	0	0	9182	1783	62	2	473	2	MAGEC3	23	140967165	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	181451	140967165	14303395	11313	16421										
MAGEC3	139081	hgsc.bcm.edu	37	chrX	140967195	140967195	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccgtcagccctggaaaaaggTtgtggggggagaaagcgggg	19	7	1	1	rs11095910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:140967195T>A	ENST00000298296.1	+	3	493	c.493T>A	c.(493-495)Ttg>Atg	p.L165M	MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	165			L -> M (in dbSNP:rs11095910).							NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAAAAGGTTGTGGGGGGA	0.572													t|||	1395	0.369536	0.348	0.3314	3775	,	,		10454	0.3651		0.0676	False		,,,				2504	0.2751				p.L165M		Atlas-SNP	.											.	MAGEC3	228	.	0			c.T493A						PASS	.	T	MET/LEU	1596,2227		297,764,238,570,323	26	21	23		493	-0.4	0	X	dbSNP_120	23	569,6148		19,382,149,2027,1712	yes	missense	MAGEC3	NM_138702.1	15	316,1146,387,2597,2035	AA,AT,A,TT,T		8.471,41.7473,20.5408	benign	165/644	140967195	2165,8375	2192	4289	6481	SO:0001583	missense	139081	exon3			AAAAGGTTGTGGG	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.493T>A	X.37:g.140967195T>A	ENSP00000298296:p.Leu165Met	Somatic	332	2	0.0060241		WXS	Illumina HiSeq	Phase_I	367	238	0.648501	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	525	0.31645569620253167	121	0.3151041666666667	72	0.23529411764705882	136	0.3090909090909091	37	0.05096418732782369	A	0.001	-4.228477	0.00001	0.417473	0.08471	ENSG00000165509	ENST00000298296	T	0.07908	3.15	0.225	-0.451	0.12214	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48340	-0.9044	7	0.42905	T	0.14	.	.	.	.	rs11095910;rs11095910	165	Q8TD91	MAGC3_HUMAN	M	165	ENSP00000298296:L165M	ENSP00000298296:L165M	L	+	1	2	MAGEC3	140794861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.506000	0.00223	-2.698000	0.00400	-2.905000	0.00092	TTG	T|0.739;A|0.261	0.261	strong		0.572	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		A	140967195	T	A	140967195	3	1	22	1	0	0	0	0	1	0	0	0	9182	1722	60	5	503	5	MAGEC3	23	140967195	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	30	140967195	14303365	11314	16422										
SPANXN3	139067	hgsc.bcm.edu	37	chrX	142596941	142596941	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggatattctgatgtttttgtCttcttcaaactctgttcggg	9	7	5	1	rs6654212	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:142596941C>G	ENST00000370503.2	-	2	212	c.129G>C	c.(127-129)aaG>aaC	p.K43N	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	43			K -> N (in dbSNP:rs6654212). {ECO:0000269|PubMed:16251457}.							endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTTTGTCTTCTTCAAAC	0.378													c|||	544	0.144106	0.1831	0.0591	3775	,	,		15102	0.0476		0.0895	False		,,,				2504	0.1258				p.K43N		Atlas-SNP	.											.	SPANXN3	49	.	0			c.G129C						PASS	.	C	ASN/LYS	792,3043		71,529,121,1032,450	105	95	98		129	-5.3	0	X	dbSNP_116	98	731,5997		31,468,201,1929,1671	yes	missense	SPANXN3	NM_001009609.2	94	102,997,322,2961,2121	GG,GC,G,CC,C		10.865,20.6519,14.4183	possibly-damaging	43/142	142596941	1523,9040	2203	4300	6503	SO:0001583	missense	139067	exon2			TTTTGTCTTCTTC		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.129G>C	X.37:g.142596941C>G	ENSP00000359534:p.Lys43Asn	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_001009609	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	207	0.12477396021699819	71	0.16435185185185186	14	0.040229885057471264	12	0.022058823529411766	45	0.06164383561643835	c	7.133	0.580348	0.13686	0.206519	0.10865	ENSG00000189252	ENST00000370503	T	0.15372	2.43	3.04	-5.31	0.02730	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.18863	0.031	B	0.19666	0.026	T	0.37888	-0.9686	8	0.56958	D	0.05	.	4.8777	0.13664	0.157:0.4963:0.0:0.3467	rs6654212;rs52789445;rs6654212	43	Q5MJ09	SPXN3_HUMAN	N	43	ENSP00000359534:K43N	ENSP00000359534:K43N	K	-	3	2	SPANXN3	142424607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.570000	0.05895	-1.453000	0.01928	-0.207000	0.12724	AAG	C|0.847;0|0.012	.	strong		0.378	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		G	142596941	C	G	142596941	3	3	22	1	0	0	0	0	1	0	0	0	14992	912	32	4	300	4	SPANXN3	23	142596941	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	1629746	142596941	12673619	11315	16423										
SLITRK4	139065	hgsc.bcm.edu	37	chrX	142717383	142717383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgcaactgatcaaggaccccActgacaggcaggtacatgaa	10	11	1	3	rs73577386	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:142717383A>G	ENST00000381779.4	-	2	1767	c.1542T>C	c.(1540-1542)agT>agC	p.S514S	SLITRK4_ENST00000338017.4_Silent_p.S514S|SLITRK4_ENST00000356928.1_Silent_p.S514S	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	514						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)					CAAGGACCCCACTGACAGGCA	0.473													A|||	528	0.139868	0.3812	0.0317	3775	,	,		13652	0.0		0.002	False		,,,				2504	0.0				p.S514S		Atlas-SNP	.											.	SLITRK4	162	.	0			c.T1542C						PASS	.	A	,,	1667,2168		315,787,250,530,321	133	136	135		1542,1542,1542	-3	1	X	dbSNP_130	135	17,6711		0,11,6,2417,1866	no	coding-synonymous,coding-synonymous,coding-synonymous	SLITRK4	NM_001184749.1,NM_001184750.1,NM_173078.3	,,	315,798,256,2947,2187	GG,GA,G,AA,A		0.2527,43.4681,15.9424	,,	514/838,514/838,514/838	142717383	1684,8879	2203	4300	6503	SO:0001819	synonymous_variant	139065	exon2			GACCCCACTGACA	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.1542T>C	X.37:g.142717383A>G		Somatic	199	1	0.00502513		WXS	Illumina HiSeq	Phase_I	168	168	1	NM_001184750	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																			A|0.836;G|0.164	0.164	strong		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		G	142717383	A	G	142717383	2	3	22	1	0	0	0	0	0	0	0	1	14745	156	6	2		2	SLITRK4	23	142717383	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	120442	142717383	12553177	11316	16424										
SPANXN1	494118	hgsc.bcm.edu	37	chrX	144337286	144337286	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gtattagcgttttgctacagGaaagctaagaaaatacattc	8	6	0	1	rs75090998	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:144337286G>A	ENST00000370493.3	+	2	930	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	57										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCTACAGGAAAGCTAAGA	0.443													G|||	280	0.0741722	0.208	0.0072	3775	,	,		15977	0.0		0.0	False		,,,				2504	0.0				p.R57R		Atlas-SNP	.											.	SPANXN1	23	.	0			c.G171A						PASS	.	G		826,3009		83,540,120,1009,451	186	161	170		171	1.5	0	X	dbSNP_131	170	9,6716		1,5,2,2422,1867	no	coding-synonymous	SPANXN1	NM_001009614.2		84,545,122,3431,2318	AA,AG,A,GG,G		0.1338,21.5385,7.9072		57/73	144337286	835,9725	2203	4297	6500	SO:0001819	synonymous_variant	494118	exon2			CTACAGGAAAGCT		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.171G>A	X.37:g.144337286G>A		Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	365	363	0.994521	NM_001009614		Silent	SNP	ENST00000370493.3	37	CCDS35421.1																																																																																			G|0.919;A|0.081	0.081	strong		0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		A	144337286	G	A	144337286	2	1	22	1	0	0	0	0	0	0	0	1	14990	1165	41	2		2	SPANXN1	23	144337286	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	1619903	144337286	10933274	11317	16425										
SLITRK2	84631	hgsc.bcm.edu	37	chrX	144904252	144904252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gggttacaggagatccgaacGggggcattcagtggcctgaa	16	8	1	2	rs3810704	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:144904252G>A	ENST00000370490.1	+	1	4564	c.309G>A	c.(307-309)acG>acA	p.T103T	SLITRK2_ENST00000447897.2_Silent_p.T103T|SLITRK2_ENST00000413937.2_Silent_p.T103T|SLITRK2_ENST00000434188.2_Silent_p.T103T|SLITRK2_ENST00000428560.2_Silent_p.T103T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	103					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCGAACGGGGGCATTCA	0.483													G|||	592	0.156821	0.1407	0.0591	3775	,	,		14738	0.0407		0.1412	False		,,,				2504	0.1861				p.T103T		Atlas-SNP	.											.	SLITRK2	221	.	0			c.G309A						PASS	.	G	,,,,,,,	719,3116		63,494,99,1075,472	72	63	66		309,309,309,309,309,309,309,309	-9.8	0	X	dbSNP_107	66	1124,5604		56,670,342,1702,1530	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLITRK2	NM_001144003.2,NM_001144004.2,NM_001144005.2,NM_001144006.2,NM_001144008.2,NM_001144009.2,NM_001144010.2,NM_032539.4	,,,,,,,	119,1164,441,2777,2002	AA,AG,A,GG,G		16.7063,18.7484,17.4477	,,,,,,,	103/846,103/846,103/846,103/846,103/846,103/846,103/846,103/846	144904252	1843,8720	2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			CCGAACGGGGGCA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.309G>A	X.37:g.144904252G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	159	158	0.993711	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																			G|0.836;A|0.164	0.164	strong		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144904252	G	A	144904252	2	1	22	1	0	0	0	0	0	0	0	1	14743	1103	39	1		1	SLITRK2	23	144904252	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	566966	144904252	10366308	11318	16426										
FMR1	2332	hgsc.bcm.edu	37	chrX	147010320	147010320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgtgccagaagacttacgGcaaatgtaagttgatacaca	10	7	0	3	rs25707	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:147010320G>A	ENST00000370475.4	+	5	542	c.414G>A	c.(412-414)cgG>cgA	p.R138R	FMR1_ENST00000370470.1_Silent_p.R138R|FMR1_ENST00000218200.8_Silent_p.R138R|FMR1_ENST00000370471.3_Silent_p.R138R|FMR1_ENST00000334557.6_Silent_p.R138R|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370477.1_Silent_p.R138R|FMR1_ENST00000439526.2_Silent_p.R138R	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	138			R -> Q (rare variant found in a developmentally delayed male; unknown pathological significance). {ECO:0000269|PubMed:20799337}.		central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTTACGGCAAATGTAAG	0.333									Fragile X syndrome				A|||	376	0.0996026	0.1467	0.0303	3775	,	,		11597	0.001		0.0815	False		,,,				2504	0.0798				p.R138R		Atlas-SNP	.											.	FMR1	93	.	0			c.G414A						PASS	.	A	,,,,	639,3195		43,457,96,1132,474	86	77	80		414,414,414,414,414	-1.7	0.9	X	dbSNP_76	80	540,6188		14,363,149,2051,1723	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FMR1	NM_001185075.1,NM_001185076.1,NM_001185081.1,NM_001185082.1,NM_002024.5	,,,,	57,820,245,3183,2197	AA,AG,A,GG,G		8.0262,16.6667,11.1627	,,,,	138/538,138/612,138/517,138/587,138/633	147010320	1179,9383	2202	4300	6502	SO:0001819	synonymous_variant	2332	exon5	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	CTTACGGCAAATG	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.414G>A	X.37:g.147010320G>A		Somatic	241	1	0.00414938		WXS	Illumina HiSeq	Phase_I	290	182	0.627586	NM_002024	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	CCDS14682.1																																																																																			0|0.002;A|0.101	0.101	strong		0.333	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147010320	G	A	147010320	2	1	22	1	0	0	0	0	0	0	0	1	5960	1190	42	2		2	FMR1	23	147010320	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2106068	147010320	8260240	11319	16427										
FMR1NB	158521	hgsc.bcm.edu	37	chrX	147088249	147088249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tctgagggaaaatcaggtggCaaagccttgtaatgagctgc	13	7	2	2	rs764631	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:147088249C>T	ENST00000370467.3	+	3	499	c.425C>T	c.(424-426)gCa>gTa	p.A142V	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	142	P-type.		A -> V (in dbSNP:rs764631).			integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAGGTGGCAAAGCCTTGT	0.368													T|||	1597	0.423046	0.2776	0.3242	3775	,	,		12246	0.5119		0.2843	False		,,,				2504	0.2076				p.A142V		Atlas-SNP	.											.	FMR1NB	51	.	0			c.C425T						PASS	.	T	VAL/ALA	1389,2446		201,781,206,650,365	173	161	165		425	1.4	0	X	dbSNP_86	165	2473,4255		331,1126,685,971,1187	yes	missense	FMR1NB	NM_152578.2	64	532,1907,891,1621,1552	TT,TC,T,CC,C		36.7568,36.219,36.5616	benign	142/256	147088249	3862,6701	2203	4300	6503	SO:0001583	missense	158521	exon3			AGGTGGCAAAGCC		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.425C>T	X.37:g.147088249C>T	ENSP00000359498:p.Ala142Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	91	55	0.604396	NM_152578	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	754	0.45449065702230257	94	0.22926829268292684	72	0.24161073825503357	191	0.5276243093922652	154	0.24600638977635783	T	0.059	-1.228678	0.01518	0.36219	0.367568	ENSG00000176988	ENST00000370467	T	0.42131	0.98	5.32	1.43	0.22495	P-type trefoil (1);	1.766360	0.03711	N	0.250227	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	9	0.02654	T	1	-0.0411	4.4681	0.11700	0.0:0.2775:0.2036:0.5189	rs764631;rs17247066;rs52819475;rs58562508;rs764631	142	Q8N0W7	FMR1N_HUMAN	V	142	ENSP00000359498:A142V	ENSP00000359498:A142V	A	+	2	0	FMR1NB	146895941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.590000	0.23954	-0.452000	0.07087	-2.121000	0.00349	GCA	C|0.582;0|0.015	.	strong		0.368	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		T	147088249	C	T	147088249	3	4	22	1	0	0	0	0	1	0	0	0	5961	710	25	2	435	2	FMR1NB	23	147088249	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	77929	147088249	8182311	11320	16428										
AFF2	2334	hgsc.bcm.edu	37	chrX	148035200	148035200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcggagagcagctctgagtcGgattcagacactgaaagtag	13	8	2	4	rs12011040	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:148035200G>A	ENST00000370460.2	+	10	1967	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	AFF2_ENST00000370457.5_Silent_p.S463S|AFF2_ENST00000342251.3_Silent_p.S463S|AFF2_ENST00000286437.5_Silent_p.S137S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	496					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGAGTCGGATTCAGACA	0.587													A|||	536	0.141987	0.3381	0.0476	3775	,	,		11768	0.003		0.0388	False		,,,				2504	0.0143				p.S496S		Atlas-SNP	.											.	AFF2	679	.	0			c.G1488A						PASS	.	A	,,,,,	1531,2304		268,774,221,590,350	126	118	121		1389,1458,1383,1371,411,1488	-10	0	X	dbSNP_120	121	287,6441		3,196,85,2229,1787	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	,,,,,	271,970,306,2819,2137	AA,AG,A,GG,G		4.2658,39.9218,17.211	,,,,,	463/1277,486/1302,461/1277,457/1273,137/953,496/1312	148035200	1818,8745	2203	4300	6503	SO:0001819	synonymous_variant	2334	exon10			TGAGTCGGATTCA	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1488G>A	X.37:g.148035200G>A		Somatic	352	0	0		WXS	Illumina HiSeq	Phase_I	415	140	0.337349	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																			0|0.003;A|0.180	0.180	strong		0.587	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148035200	G	A	148035200	2	1	22	1	0	0	0	0	0	0	0	1	357	1103	39	1		1	AFF2	23	148035200	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	946951	148035200	7235360	11321	16429										
IDS	3423	hgsc.bcm.edu	37	chrX	148579705	148579705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggaagaaaggactggctgacGttttcatcttttccaacaac	9	9	2	2	rs61736892	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:148579705G>A	ENST00000340855.6	-	5	850	c.641C>T	c.(640-642)aCg>aTg	p.T214M	IDS_ENST00000422081.2_Missense_Mutation_p.T3M|IDS_ENST00000541269.1_Missense_Mutation_p.T3M|IDS_ENST00000370441.4_Missense_Mutation_p.T214M|IDS_ENST00000370443.4_Missense_Mutation_p.T214M|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTGGCTGACGTTTTCATCTT	0.527													G|||	60	0.015894	0.0439	0.0029	3775	,	,		14709	0.0		0.0	False		,,,				2504	0.0				p.T214M		Atlas-SNP	.											.	IDS	46	.	0			c.C641T	GRCh37	CS961600	IDS	S	rs61736892	PASS	.	G	MET/THR,MET/THR,MET/THR	184,3651		7,143,27,1482,544	160	136	144		641,371,641	1.7	0.2	X	dbSNP_129	144	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	IDS	NM_000202.5,NM_001166550.1,NM_006123.4	81,81,81	7,143,27,3910,2416	AA,AG,A,GG,G		0.0,4.7979,1.7419	benign,benign,benign	214/551,124/461,214/344	148579705	184,10379	2203	4300	6503	SO:0001583	missense	3423	exon5			GCTGACGTTTTCA	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.641C>T	X.37:g.148579705G>A	ENSP00000339801:p.Thr214Met	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	234	110	0.470085	NM_006123	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	CCDS14685.1	24	0.014466546112115732	17	0.035416666666666666	1	0.0027624309392265192	0	0.0	0	0.0	G	13.84	2.358547	0.41801	0.047979	0.0	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441;ENST00000370443	D;D;D;D	0.99900	-7.62;-5.85;-7.62;-7.62	5.12	1.68	0.24146	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.624103	0.18240	N	0.147268	D	0.97676	0.9238	L	0.56340	1.77	0.80722	P	0.0	D;D;D	0.61697	0.987;0.973;0.99	P;P;P	0.59595	0.781;0.806;0.86	D	0.90347	0.4363	9	0.46703	T	0.11	.	3.6256	0.08112	0.0979:0.1075:0.4765:0.318	.	214;124;214	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	M	214;3;214;214	ENSP00000339801:T214M;ENSP00000441261:T3M;ENSP00000359470:T214M;ENSP00000359472:T214M	ENSP00000339801:T214M	T	-	2	0	IDS	148387610	0.031000	0.19500	0.151000	0.22473	0.933000	0.57130	0.398000	0.20899	0.865000	0.35603	-0.395000	0.06472	ACG	G|0.982;A|0.018	0.018	strong		0.527	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			A	148579705	G	A	148579705	3	1	22	1	0	0	0	0	1	0	0	0	7503	1145	40	1	1061	1	IDS	23	148579705	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	544505	148579705	6690855	11322	16430										
IDS	3423	hgsc.bcm.edu	37	chrX	148582549	148582549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagctatacggagaatcatcGgtatggttagaagatatccc	10	8	1	3	rs1141608	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:148582549G>A	ENST00000340855.6	-	4	647	c.438C>T	c.(436-438)acC>acT	p.T146T	IDS_ENST00000422081.2_5'UTR|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Silent_p.T146T|IDS_ENST00000370443.4_Silent_p.T146T|IDS_ENST00000427113.2_5'Flank|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	146					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGAATCATCGGTATGGTTAG	0.378													G|||	727	0.192583	0.1989	0.1369	3775	,	,		14561	0.002		0.3161	False		,,,				2504	0.0501				p.T146T		Atlas-SNP	.											.	IDS	46	.	0			c.C438T						PASS	.	G	,,	968,2867		117,600,134,915,437	120	110	114		438,168,438	1.1	1	X	dbSNP_86	114	2656,4072		401,1104,750,923,1122	no	coding-synonymous,coding-synonymous,coding-synonymous	IDS	NM_000202.5,NM_001166550.1,NM_006123.4	,,	518,1704,884,1838,1559	AA,AG,A,GG,G		39.4768,25.2412,34.3084	,,	146/551,56/461,146/344	148582549	3624,6939	2203	4300	6503	SO:0001819	synonymous_variant	3423	exon4			ATCATCGGTATGG	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.438C>T	X.37:g.148582549G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	74	26	0.351351	NM_006123	D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	CCDS14685.1																																																																																			G|0.703;0|0.015	.	strong		0.378	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			A	148582549	G	A	148582549	2	1	22	1	0	0	0	0	0	0	0	1	7503	1103	39	1		1	IDS	23	148582549	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2844	148582549	6688011	11323	16431										
MAGEA8	4107	hgsc.bcm.edu	37	chrX	149013963	149013963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agttcgcatttcctacccatCcctgcatgaagaggctttgg	9	12	0	2	rs12010332	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:149013963C>T	ENST00000542674.1	+	3	1438	c.917C>T	c.(916-918)tCc>tTc	p.S306F	MAGEA8_ENST00000535454.1_Missense_Mutation_p.S306F|MAGEA8_ENST00000286482.1_Missense_Mutation_p.S306F	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	306	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.		S -> F (in dbSNP:rs12010332).							NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTACCCATCCCTGCATGAA	0.572													c|||	182	0.0482119	0.1248	0.0144	3775	,	,		15794	0.004		0.002	False		,,,				2504	0.001				p.S306F		Atlas-SNP	.											.	MAGEA8	40	.	0			c.C917T						PASS	.	C	PHE/SER,PHE/SER,PHE/SER	568,3267		39,405,85,1188,486	92	88	89		917,917,917	0.7	0	X	dbSNP_120	89	8,6718		0,6,2,2422,1868	yes	missense,missense,missense	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	155,155,155	39,411,87,3610,2354	TT,TC,T,CC,C		0.1189,14.811,5.454	probably-damaging,probably-damaging,probably-damaging	306/319,306/319,306/319	149013963	576,9985	2203	4298	6501	SO:0001583	missense	4107	exon3			ACCCATCCCTGCA		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.917C>T	X.37:g.149013963C>T	ENSP00000443776:p.Ser306Phe	Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	293	293	1	NM_005364	Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	CCDS14692.1	72	0.0433996383363472	47	0.10262008733624454	3	0.008426966292134831	1	0.0017482517482517483	1	0.0013192612137203166	.	3.559	-0.090020	0.07053	0.14811	0.001189	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.01871	4.59;4.59;4.59	0.68	0.68	0.17980	.	5.208330	0.00397	N	0.000056	T	0.00039	0.0001	L	0.59967	1.855	0.80722	P	0.0	D	0.71674	0.998	P	0.57679	0.825	T	0.48210	-0.9055	8	0.08837	T	0.75	.	.	.	.	rs12010332;rs52806623;rs12010332	306	P43361	MAGA8_HUMAN	F	306	ENSP00000438293:S306F;ENSP00000443776:S306F;ENSP00000286482:S306F	ENSP00000286482:S306F	S	+	2	0	MAGEA8	148774621	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-0.990000	0.03732	0.588000	0.29660	0.190000	0.17370	TCC	C|0.947;T|0.053	0.053	strong		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		T	149013963	C	T	149013963	3	4	22	1	0	0	0	0	1	0	0	0	9171	855	30	2	919	2	MAGEA8	23	149013963	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	431414	149013963	6256597	11324	16432										
PASD1	139135	hgsc.bcm.edu	37	chrX	150840185	150840185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gacgtcaagtgtttctgtggTttatctttatccaactctct	7	9	4	0	rs6627174	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:150840185T>C	ENST00000370357.4	+	13	1616	c.1371T>C	c.(1369-1371)ggT>ggC	p.G457G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	457						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCTGTGGTTTATCTTTAT	0.478													T|||	1488	0.394172	0.062	0.2939	3775	,	,		15542	0.6448		0.164	False		,,,				2504	0.3957				p.G457G		Atlas-SNP	.											.	PASD1	286	.	0			c.T1371C						PASS	.	T		405,3430		17,316,55,1299,516	122	106	111		1371	-1.9	0	X	dbSNP_116	111	1495,5233		113,850,419,1465,1453	no	coding-synonymous	PASD1	NM_173493.2		130,1166,474,2764,1969	CC,CT,C,TT,T		22.2206,10.5606,17.9873		457/774	150840185	1900,8663	2203	4300	6503	SO:0001819	synonymous_variant	139135	exon13			CTGTGGTTTATCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1371T>C	X.37:g.150840185T>C		Somatic	162	1	0.00617284		WXS	Illumina HiSeq	Phase_I	184	115	0.625	NM_173493	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																			0|0.003;C|0.271	0.271	strong		0.478	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150840185	T	C	150840185	2	2	22	1	0	0	0	0	0	0	0	1	11471	1712	60	2		2	PASD1	23	150840185	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1826222	150840185	4430375	11325	16433										
PASD1	139135	hgsc.bcm.edu	37	chrX	150840690	150840690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caagaacaacacctgaaggaGcagcagcggcagctgcggga	14	11	0	2	rs370395923		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:150840690G>T	ENST00000370357.4	+	14	1718	c.1473G>T	c.(1471-1473)gaG>gaT	p.E491D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	491						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					acctgaaggagcagcagcggc	0.527													G|||	16	0.00423841	0.0121	0.0	3775	,	,		14023	0.0		0.0	False		,,,				2504	0.0				p.E491D		Atlas-SNP	.											.	PASD1	286	.	0			c.G1473T						PASS	.	G	ASP/GLU	35,3366		0,33,2,1472,389	10	10	10		1473	1	0	X		10	1,5850		0,0,1,2208,1434	yes	missense	PASD1	NM_173493.2	45	0,33,3,3680,1823	TT,TG,T,GG,G		0.0171,1.0291,0.3891	possibly-damaging	491/774	150840690	36,9216	1896	3643	5539	SO:0001583	missense	139135	exon14			GAAGGAGCAGCAG	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1473G>T	X.37:g.150840690G>T	ENSP00000359382:p.Glu491Asp	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	115	48	0.417391	NM_173493	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033777	0.19590	0.010291	1.71E-4	ENSG00000166049	ENST00000370357	T	0.17691	2.26	2.03	1.04	0.20106	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37387	0.248	T	0.23904	-1.0175	9	0.15066	T	0.55	.	4.9456	0.13987	0.0:0.0:0.6449:0.355	.	491	Q8IV76	PASD1_HUMAN	D	491	ENSP00000359382:E491D	ENSP00000359382:E491D	E	+	3	2	PASD1	150591346	0.001000	0.12720	0.004000	0.12327	0.251000	0.25915	-0.444000	0.06854	0.252000	0.21531	0.462000	0.41574	GAG	.	.	weak		0.527	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150840690	G	T	150840690	3	4	22	1	0	0	0	0	1	0	0	0	11471	962	34	4	1523	4	PASD1	23	150840690	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	505	150840690	4429870	11326	16434										
CNGA2	1260	hgsc.bcm.edu	37	chrX	150912171	150912171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gaaacactacatgcagttccGaaaggtcagcaaggggatgg	13	8	1	0	rs150539917	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:150912171G>A	ENST00000329903.4	+	6	1229	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	399			R -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R399Q(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGTTCCGAAAGGTCAGC	0.493													G|||	104	0.0275497	0.0726	0.0072	3775	,	,		18285	0.0		0.003	False		,,,				2504	0.0				p.R399Q		Atlas-SNP	.											.	CNGA2	136	.	1	Substitution - Missense(1)	breast(1)	c.G1196A						PASS	.	G	GLN/ARG	355,3480		19,261,56,1352,515	93	82	86		1196	3.2	1	X	dbSNP_134	86	2,6726		0,1,1,2427,1871	yes	missense	CNGA2	NM_005140.1	43	19,262,57,3779,2386	AA,AG,A,GG,G		0.0297,9.2568,3.3797	probably-damaging	399/665	150912171	357,10206	2203	4300	6503	SO:0001583	missense	1260	exon7			AGTTCCGAAAGGT	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1196G>A	X.37:g.150912171G>A	ENSP00000328478:p.Arg399Gln	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_005140	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	48	0.028933092224231464	33	0.07051282051282051	2	0.005555555555555556	0	0.0	1	0.0013192612137203166	G	15.92	2.975018	0.53720	0.092568	2.97E-4	ENSG00000183862	ENST00000329903	D	0.97066	-4.23	4.96	3.18	0.36537	Cyclic nucleotide-binding-like (1);	0.057024	0.64402	D	0.000001	T	0.77745	0.4176	M	0.88450	2.955	0.20764	P	0.999856176	D	0.89917	1.0	D	0.79108	0.992	T	0.79874	-0.1619	9	0.46703	T	0.11	.	9.1566	0.36996	0.1872:0.0:0.8128:0.0	.	399	Q16280	CNGA2_HUMAN	Q	399	ENSP00000328478:R399Q	ENSP00000328478:R399Q	R	+	2	0	CNGA2	150662827	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.415000	0.66411	0.437000	0.26423	-0.344000	0.07964	CGA	G|0.964;A|0.036	0.036	strong		0.493	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912171	G	A	150912171	3	1	22	1	0	0	0	0	1	0	0	0	3597	1058	37	1	1218	1	CNGA2	23	150912171	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	71481	150912171	4358389	11327	16435										
CNGA2	1260	hgsc.bcm.edu	37	chrX	150912502	150912502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctgatgatggtgtgactcaGtatgctctgctgtcggctgg	15	8	2	3	rs113295831	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:150912502G>A	ENST00000329903.4	+	6	1560	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	509					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGACTCAGTATGCTCTGC	0.512													G|||	10	0.00264901	0.0015	0.0014	3775	,	,		16976	0.0		0.007	False		,,,				2504	0.0				p.Q509Q		Atlas-SNP	.											.	CNGA2	136	.	0			c.G1527A						PASS	.	G		5,3830		0,4,1,1628,570	170	139	150		1527	1.6	1	X	dbSNP_132	150	48,6680		0,34,14,2394,1858	no	coding-synonymous	CNGA2	NM_005140.1		0,38,15,4022,2428	AA,AG,A,GG,G		0.7134,0.1304,0.5018		509/665	150912502	53,10510	2203	4300	6503	SO:0001819	synonymous_variant	1260	exon7			GACTCAGTATGCT	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1527G>A	X.37:g.150912502G>A		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	239	140	0.585774	NM_005140	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																			G|0.996;A|0.004	0.004	strong		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912502	G	A	150912502	2	1	22	1	0	0	0	0	0	0	0	1	3597	1020	36	2		2	CNGA2	23	150912502	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	331	150912502	4358058	11328	16436										
TREX2	11219	hgsc.bcm.edu	37	chrX	152710238	152710238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctcgatgtgggcccacccAcgggcctgctcatcggccca	13	17	1	0	rs386828553|rs916046	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:152710238A>G	ENST00000334497.2	-	11	1921	c.780T>C	c.(778-780)cgT>cgC	p.R260R	TREX2_ENST00000370232.1_Silent_p.R260R|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000330912.2_Silent_p.R217R|TREX2_ENST00000393862.2_Silent_p.R217R|TREX2_ENST00000414588.1_Silent_p.R259R|TREX2_ENST00000338525.2_Silent_p.R217R|TREX2_ENST00000370231.2_Silent_p.R217R|TREX2_ENST00000402951.1_Silent_p.R260R			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	260					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCACCCACGGGCCTGCT	0.687								Editing and processing nucleases					G|||	436	0.115497	0.2973	0.0346	3775	,	,		11075	0.001		0.005	False		,,,				2504	0.0133				p.R217R		Atlas-SNP	.											.	TREX2	36	.	0			c.T651C						PASS	.	G		1264,2539		169,744,182,714,367	13	12	12		651	-2.5	0	X	dbSNP_86	12	47,6646		0,36,11,2388,1834	no	coding-synonymous	TREX2	NM_080701.3		169,780,193,3102,2201	GG,GA,G,AA,A		0.7022,33.2369,12.4905		217/237	152710238	1311,9185	2176	4269	6445	SO:0001819	synonymous_variant	11219	exon2			CCACCCACGGGCC	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.780T>C	X.37:g.152710238A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	141	35	0.248227	NM_080701	Q45F08|Q9UN77	Silent	SNP	ENST00000334497.2	37																																																																																				A|0.851;0|0.006	.	strong		0.687	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		G	152710238	A	G	152710238	2	3	22	1	0	0	0	0	0	0	0	1	16474	146	6	2		2	TREX2	23	152710238	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1797736	152710238	2560322	11329	16437										
ATP2B3	492	hgsc.bcm.edu	37	chrX	152830495	152830495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggcgaggaagagatcgaccaTgccgagcgggagctccgcag	17	11	0	1	rs5986910	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:152830495T>C	ENST00000349466.2	+	20	3602	c.3276T>C	c.(3274-3276)caT>caC	p.H1092H	ATP2B3_ENST00000370186.1_Silent_p.H1078H|ATP2B3_ENST00000393842.1_Silent_p.H1078H|ATP2B3_ENST00000359149.3_Silent_p.H1092H|ATP2B3_ENST00000370181.2_Silent_p.H1078H|ATP2B3_ENST00000263519.4_Silent_p.H1092H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1092					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCGACCATGCCGAGCGGG	0.672													C|||	206	0.0545695	0.1467	0.0144	3775	,	,		12860	0.0		0.002	False		,,,				2504	0.0				p.H1092H		Atlas-SNP	.											.	ATP2B3	552	.	0			c.T3276C						PASS	.		,	667,3161		51,473,92,1107,474	24	23	23		3276,3276	0.6	1	X	dbSNP_114	23	13,6711		0,8,5,2420,1863	no	coding-synonymous,coding-synonymous	ATP2B3	NM_001001344.2,NM_021949.3	,	51,481,97,3527,2337	CC,CT,C,TT,T		0.1933,17.4242,6.4443	,	1092/1221,1092/1174	152830495	680,9872	2197	4296	6493	SO:0001819	synonymous_variant	492	exon19			CGACCATGCCGAG	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3276T>C	X.37:g.152830495T>C		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	194	64	0.329897	NM_001001344	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																			T|0.920;C|0.080	0.080	strong		0.672	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		C	152830495	T	C	152830495	2	2	22	1	0	0	0	0	0	0	0	1	1141	1461	51	2		2	ATP2B3	23	152830495	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	120257	152830495	2440065	11330	16438										
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153036957	153036957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ctagtgatcctgtacgactgCgccatgggccacccggactg	12	14	0	1	rs17091287	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153036957C>T	ENST00000361971.5	+	14	2478	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C	PLXNB3_ENST00000538776.1_Silent_p.C441C|PLXNB3_ENST00000538282.1_Silent_p.C398C|PLXNB3_ENST00000538966.1_Silent_p.C811C|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	788	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGACTGCGCCATGGGCC	0.687													C|||	272	0.072053	0.1982	0.013	3775	,	,		10689	0.0		0.001	False		,,,				2504	0.0				p.C811C		Atlas-SNP	.											.	PLXNB3	208	.	0			c.C2433T						PASS	.	C	,	938,2882		100,604,134,926,426	36	35	35		2433,2364	-1	0	X	dbSNP_123	35	3,6716		0,1,2,2425,1865	no	coding-synonymous,coding-synonymous	PLXNB3	NM_001163257.1,NM_005393.2	,	100,605,136,3351,2291	TT,TC,T,CC,C		0.0446,24.555,8.9287	,	811/1933,788/1910	153036957	941,9598	2190	4293	6483	SO:0001819	synonymous_variant	5365	exon15			CGACTGCGCCATG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2364C>T	X.37:g.153036957C>T		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	166	63	0.379518	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			C|0.915;0|0.004	.	strong		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153036957	C	T	153036957	2	4	22	1	0	0	0	0	0	0	0	1	12125	776	27	1		1	PLXNB3	23	153036957	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	206462	153036957	2233603	11331	16439										
SRPK3	26576	hgsc.bcm.edu	37	chrX	153049535	153049535	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gcctcttcctcccccgccccAgggggcggccgtagcctcag	12	20	2	0	rs4898444	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153049535A>G	ENST00000370101.3	+	10	1060	c.1014A>G	c.(1012-1014)ccA>ccG	p.P338P	SRPK3_ENST00000370108.3_Intron|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Silent_p.P337P|SRPK3_ENST00000393786.3_Intron|SRPK3_ENST00000489426.1_Silent_p.P405P	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGCCCCAGGGGGCGGCC	0.692													G|||	2278	0.603444	0.3964	0.4539	3775	,	,		10079	0.631		0.2664	False		,,,				2504	0.547				p.P338P	Esophageal Squamous(167;766 3400 32156)	Atlas-SNP	.											.	SRPK3	63	.	0			c.A1014G						PASS	.	G	,,	1774,2049		401,698,274,530,291	20	24	23		1011,,1014	-9	0	X	dbSNP_111	23	2344,4361		315,1065,649,1041,1214	no	coding-synonymous,intron,coding-synonymous	SRPK3	NM_001170760.1,NM_001170761.1,NM_014370.3	,,	716,1763,923,1571,1505	GG,GA,G,AA,A		34.959,46.4033,39.1147	,,	337/567,,338/568	153049535	4118,6410	2194	4284	6478	SO:0001819	synonymous_variant	26576	exon10			CGCCCCAGGGGGC	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1014A>G	X.37:g.153049535A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	105	57	0.542857	NM_014370	Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	CCDS35441.1																																																																																			A|0.477;G|0.523	0.523	strong		0.692	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		G	153049535	A	G	153049535	2	3	22	1	0	0	0	0	0	0	0	1	15160	175	7	3		3	SRPK3	23	153049535	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	12578	153049535	2221025	11332	16440										
AVPR2	554	hgsc.bcm.edu	37	chrX	153171993	153171993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	acaggggcgccctttgtgctActcatgttgctggccagcct	12	13	1	0	rs5201	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153171993A>G	ENST00000358927.2	+	4	1136	c.927A>G	c.(925-927)ctA>ctG	p.L309L	AVPR2_ENST00000370049.1_3'UTR|ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Silent_p.L309L			P30518	V2R_HUMAN	arginine vasopressin receptor 2	309			L -> P (in XNDI). {ECO:0000269|PubMed:9452109}.|L -> R (in XNDI).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCTTTGTGCTACTCATGTTGC	0.612													G|||	2599	0.688477	0.711	0.487	3775	,	,		14121	0.5446		0.2425	False		,,,				2504	0.5399				p.L309L		Atlas-SNP	.											.	AVPR2	43	.	0			c.A927G						PASS	.	G	,	3287,548		1199,389,500,44,71	160	139	146		927,	3.4	1	X	dbSNP_52	146	2018,4710		209,998,602,1221,1270	no	coding-synonymous,utr-3	AVPR2	NM_000054.4,NM_001146151.1	,	1408,1387,1102,1265,1341	GG,GA,G,AA,A		29.9941,14.2894,49.7775	,	309/372,	153171993	5305,5258	2203	4300	6503	SO:0001819	synonymous_variant	554	exon3			TGTGCTACTCATG	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.927A>G	X.37:g.153171993A>G		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	199	199	1	NM_000054	C5HF20|O43192|Q3MJD3|Q9UCV9	Silent	SNP	ENST00000358927.2	37	CCDS14735.1	993	0.5985533453887885	242	0.8120805369127517	123	0.45555555555555555	212	0.572972972972973	130	0.2006172839506173	g	4.708	0.131710	0.08981	0.857106	0.299941	ENSG00000126895	ENST00000430697	T	0.41758	0.99	4.3	3.44	0.39384	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.09885	-1.0654	5	0.66056	D	0.02	-19.7909	5.1929	0.15218	0.1993:0.284:0.5167:0.0	rs5201;rs2228584;rs5201	.	.	.	C	280	ENSP00000393513:Y280C	ENSP00000393513:Y280C	Y	+	2	0	AVPR2	152825187	0.974000	0.33945	1.000000	0.80357	0.185000	0.23345	0.989000	0.29629	0.258000	0.21686	-1.480000	0.00990	TAC	A|0.412;0|0.001	.	strong		0.612	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			G	153171993	A	G	153171993	2	3	22	1	0	0	0	0	0	0	0	1	1233	378	14	2		2	AVPR2	23	153171993	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	122458	153171993	2098567	11333	16441										
ARHGAP4	393	hgsc.bcm.edu	37	chrX	153176254	153176254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ccggccaccgagtccaggtcAtgggcagtgcagccctccac	12	17	1	0	rs2070097	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153176254A>G	ENST00000350060.5	-	15	1757	c.1716T>C	c.(1714-1716)caT>caC	p.H572H	ARHGAP4_ENST00000370016.1_Silent_p.H551H|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Silent_p.H549H|ARHGAP4_ENST00000393721.1_Silent_p.H394H|ARHGAP4_ENST00000370028.3_Silent_p.H612H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	572	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCAGGTCATGGGCAGTGC	0.682											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	2661	0.704901	0.6914	0.4928	3775	,	,		6158	0.5437		0.3062	False		,,,				2504	0.5613				p.H612H		Atlas-SNP	.											.	ARHGAP4	103	.	0			c.T1836C						PASS	.	G	,	3240,563		1191,370,488,60,73	13	15	15		1836,1716	-6.9	0	X	dbSNP_96	15	2616,4076		384,1102,746,931,1112	no	coding-synonymous,coding-synonymous	ARHGAP4	NM_001164741.1,NM_001666.4	,	1575,1472,1234,991,1185	GG,GA,G,AA,A		39.0915,14.8041,44.202	,	612/987,572/947	153176254	5856,4639	2182	4275	6457	SO:0001819	synonymous_variant	393	exon16			CAGGTCATGGGCA	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1716T>C	X.37:g.153176254A>G		Somatic	82	0	0	1753	WXS	Illumina HiSeq	Phase_I	97	35	0.360825	NM_001164741	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	1043	0.6286919831223629	234	0.7959183673469388	118	0.44696969696969696	218	0.5828877005347594	163	0.26547231270358307	a	0.105	-1.146679	0.01714	0.851959	0.390915	ENSG00000089820	ENST00000454164;ENST00000442172	.	.	.	4.61	-6.94	0.01633	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.24137	P	0.99574145	.	.	.	.	.	.	T	0.07009	-1.0795	3	.	.	.	.	7.0917	0.25287	0.6809:0.0919:0.1343:0.0929	rs2070097;rs17846493;rs17859557;rs61248836;rs2070097	.	.	.	T	72;61	.	.	M	-	2	0	ARHGAP4	152829448	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.160000	0.03147	-2.323000	0.00639	-2.187000	0.00313	ATG	A|0.354;G|0.646	0.646	strong		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		G	153176254	A	G	153176254	2	3	22	1	0	0	0	0	0	0	0	1	885	214	8	2		2	ARHGAP4	23	153176254	Silent	SNP	A	TCGA-G8-6324-01A-11D-2210-10	4261	153176254	2094306	11334	16442										
ARHGAP4	393	hgsc.bcm.edu	37	chrX	153176284	153176284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	cagccctccaccagtgggtcCtcccctgcagatgggcgagt	12	16	0	1	rs62620965	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153176284C>T	ENST00000350060.5	-	15	1727	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E	ARHGAP4_ENST00000370016.1_Silent_p.E541E|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Silent_p.E539E|ARHGAP4_ENST00000393721.1_Silent_p.E384E|ARHGAP4_ENST00000370028.3_Silent_p.E602E	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	562	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGGGTCCTCCCCTGCAG	0.701											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	77	0.0203974	0.0015	0.0202	3775	,	,		6248	0.0		0.0586	False		,,,				2504	0.002				p.E602E		Atlas-SNP	.											.	ARHGAP4	103	.	0			c.G1806A						PASS	.	C	,	50,3731		0,45,5,1570,546	12	14	13		1806,1686	1.9	1	X	dbSNP_129	13	524,6159		19,358,128,2039,1723	no	coding-synonymous,coding-synonymous	ARHGAP4	NM_001164741.1,NM_001666.4	,	19,403,133,3609,2269	TT,TC,T,CC,C		7.8408,1.3224,5.4855	,	602/987,562/947	153176284	574,9890	2166	4267	6433	SO:0001819	synonymous_variant	393	exon16			TGGGTCCTCCCCT	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1686G>A	X.37:g.153176284C>T		Somatic	70	0	0	1753	WXS	Illumina HiSeq	Phase_I	78	45	0.576923	NM_001164741	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	60	0.03616636528028933	2	0.004081632653061225	3	0.008522727272727272	0	0.0	40	0.05420054200542006	C	5.744	0.321708	0.10845	0.013224	0.078408	ENSG00000089820	ENST00000454164;ENST00000442172	.	.	.	4.61	1.88	0.25563	.	.	.	.	.	T	0.02807	0.0084	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.17653	-1.0362	3	.	.	.	.	7.0854	0.25254	0.0:0.5108:0.0:0.4892	rs62620965	.	.	.	K	62;51	.	.	R	-	2	0	ARHGAP4	152829478	0.906000	0.30813	0.999000	0.59377	0.588000	0.36517	-0.008000	0.12788	0.082000	0.17018	-0.195000	0.12781	AGG	C|0.957;T|0.043	0.043	strong		0.701	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		T	153176284	C	T	153176284	2	4	22	1	0	0	0	0	0	0	0	1	885	680	24	2		2	ARHGAP4	23	153176284	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	30	153176284	2094276	11335	16443										
TMEM187	8269	hgsc.bcm.edu	37	chrX	153247745	153247745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ggctgcacaggggcggcgcgAtggggctgggtccccgctac	19	13	0	0	rs7350355	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153247745A>G	ENST00000369982.4	+	2	979	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	78			M -> V (in dbSNP:rs7350355).			integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCGGCGCGATGGGGCTGGG	0.692													G|||	2039	0.540132	0.4644	0.3991	3775	,	,		12161	0.5546		0.1461	False		,,,				2504	0.4519				p.M78V		Atlas-SNP	.											.	TMEM187	21	.	0			c.A232G						PASS	.	G	VAL/MET	2148,1682		503,806,336,322,232	33	29	30		232	2.7	0	X	dbSNP_116	30	1229,5494		76,721,356,1630,1513	yes	missense	TMEM187	NM_003492.2	21	579,1527,692,1952,1745	GG,GA,G,AA,A		18.2805,43.9164,32.0004	benign	78/262	153247745	3377,7176	2199	4296	6495	SO:0001583	missense	8269	exon2			GGCGCGATGGGGC	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.232A>G	X.37:g.153247745A>G	ENSP00000358999:p.Met78Val	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	138	49	0.355072	NM_003492	B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	CCDS14739.1	761	0.458710066305003	156	0.4126984126984127	91	0.30743243243243246	208	0.5683060109289617	80	0.11594202898550725	G	6.827	0.521765	0.13005	0.560836	0.182805	ENSG00000177854	ENST00000369982	T	0.20881	2.04	3.6	2.71	0.32032	.	3.362720	0.01821	N	0.034052	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45948	-0.9226	9	0.12430	T	0.62	.	4.6881	0.12767	0.2141:0.1773:0.6086:0.0	rs7350355;rs57609307;rs7350355	78	Q14656	TM187_HUMAN	V	78	ENSP00000358999:M78V	ENSP00000358999:M78V	M	+	1	0	TMEM187	152900939	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.132000	0.15891	0.012000	0.14892	-0.396000	0.06452	ATG	A|0.587;0|0.003	.	strong		0.692	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		G	153247745	A	G	153247745	3	3	22	1	0	0	0	0	1	0	0	0	16106	333	12	2	234	2	TMEM187	23	153247745	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	71461	153247745	2022815	11336	16444										
IRAK1	3654	hgsc.bcm.edu	37	chrX	153284746	153284746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgctgggcctcggggcagtgGtgcctggggacggaagcggg	22	9	0	0	rs11465829	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153284746G>A	ENST00000369980.3	-	3	505	c.338C>T	c.(337-339)aCc>aTc	p.T113I	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Missense_Mutation_p.T113I|IRAK1_ENST00000393682.1_Missense_Mutation_p.T139I|IRAK1_ENST00000429936.2_Missense_Mutation_p.T139I|IRAK1_ENST00000393687.2_Missense_Mutation_p.T113I	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	113	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGCAGTGGTGCCTGGGGA	0.736													G|||	9	0.00238411	0.0053	0.0029	3775	,	,		7576	0.0		0.0	False		,,,				2504	0.0				p.T113I		Atlas-SNP	.											.	IRAK1	107	.	0			c.C338T						PASS	.	G	ILE/THR,ILE/THR,ILE/THR	31,3695		0,23,8,1557,558	13	17	16		338,338,338	3.9	0	X	dbSNP_120	16	3,6649		0,0,3,2406,1837	no	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	89,89,89	0,23,11,3963,2395	AA,AG,A,GG,G		0.0451,0.832,0.3276	possibly-damaging,possibly-damaging,possibly-damaging	113/683,113/634,113/713	153284746	34,10344	2146	4246	6392	SO:0001583	missense	3654	exon3			GCAGTGGTGCCTG	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.338C>T	X.37:g.153284746G>A	ENSP00000358997:p.Thr113Ile	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	113	47	0.415929	NM_001569	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	2	0.0012055455093429777	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	24.3	4.518780	0.85495	0.00832	4.51E-4	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000444230;ENST00000393687;ENST00000429936	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.82	3.92	0.45320	DEATH-like (1);	0.135643	0.33401	N	0.004960	T	0.45478	0.1344	M	0.63428	1.95	0.09310	N	0.999997	P;P;P;P	0.45827	0.651;0.867;0.501;0.634	B;B;B;B	0.41619	0.153;0.361;0.109;0.219	T	0.46610	-0.9179	10	0.52906	T	0.07	-5.7048	9.8845	0.41253	0.0:0.2038:0.7962:0.0	rs11465829	139;113;113;113	D3YTB5;P51617-4;P51617;P51617-2	.;.;IRAK1_HUMAN;.	I	113;113;139;109;113;139	ENSP00000358997:T113I;ENSP00000358991:T113I;ENSP00000377287:T139I;ENSP00000399974:T109I;ENSP00000377291:T113I;ENSP00000392662:T139I	ENSP00000358990:T139I	T	-	2	0	IRAK1	152937940	0.019000	0.18553	0.046000	0.18839	0.721000	0.41392	1.183000	0.32041	0.767000	0.33267	0.436000	0.28706	ACC	G|0.984;0|0.014	.	strong		0.736	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			A	153284746	G	A	153284746	3	1	22	1	0	0	0	0	1	0	0	0	7821	1261	44	2	1848	2	IRAK1	23	153284746	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	37001	153284746	1985814	11337	16445										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153418514	153418514	+	Missense_Mutation	SNP	G	G	A													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	ttgatgccaagctggccatcGtgggcattgccttctcctgg					rs60549689		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153418514G>A	ENST00000369951.4	+	3	571	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	171					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGCCATCGTGGGCATTGC	0.577													g|||	749	0.198411	0.2428	0.0749	3775	,	,		13519	0.1042		0.0527	False		,,,				2504	0.2229				p.V171M		Atlas-SNP	.											.	OPN1LW	87	.	0			c.G511A	GRCh37	CM890023	OPN1LW	X	rs79866052	PASS	.	A	MET/VAL	1109,2697		169,622,149,839,397	227	140	170		511	-1.1	0	X	dbSNP_131	170	490,5882		63,244,120,2064,1510	no	missense	OPN1LW	NM_020061.4	21	232,866,269,2903,1907	AA,AG,A,GG,G		7.6899,29.1382,15.7104	benign	171/365	153418514	1599,8579	2176	4001	6177	SO:0001583	missense	5956	exon3			GCCATCGTGGGCA	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.511G>A	X.37:g.153418514G>A	ENSP00000358967:p.Val171Met	Somatic	468	0	0		WXS	Illumina HiSeq	Phase_I	1100	325	0.295455	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	214	0.1289933694996986	85	0.195852534562212	18	0.05084745762711865	41	0.07454545454545454	22	0.030303030303030304	g	4.615	0.114219	0.08831	0.291382	0.076899	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.74209	-0.82;-0.82	4.57	-1.07	0.09968	GPCR, rhodopsin-like superfamily (1);	1.027880	0.07705	N	0.941117	T	0.00012	0.0000	N	0.04994	-0.135	0.80722	P	0.0	P	0.36249	0.545	B	0.26202	0.067	T	0.01323	-1.1385	9	0.02654	T	1	.	2.3707	0.04330	0.3991:0.1172:0.3634:0.1204	.	171	P04000	OPSR_HUMAN	M	171;34	ENSP00000358967:V171M;ENSP00000402493:V34M	ENSP00000358967:V171M	V	+	1	0	OPN1LW	153071708	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.307000	0.19296	-0.538000	0.06281	-2.704000	0.00135	GTG	G|0.870;A|0.130	0.130	strong		0.577	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		A	153418514	G	A	153418514	3	1	22	1	0	0	0	0	1	0	0	0	10877	1145	40	1	521	1	OPN1LW	23	153418514	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	133768	153418514	1852046	11338	16446	356	3								
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153418516	153418516	+	Silent	SNP	G	G	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gatgccaagctggccatcgtGggcattgccttctcctggat					rs55676401		TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153418516G>T	ENST00000369951.4	+	3	573	c.513G>T	c.(511-513)gtG>gtT	p.V171V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	171					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCCATCGTGGGCATTGCCT	0.582													g|||	751	0.19894	0.2481	0.072	3775	,	,		13237	0.1042		0.0517	False		,,,				2504	0.2209				p.V171V		Atlas-SNP	.											.	OPN1LW	87	.	0			c.G513T						PASS	.	T		1102,2704		176,601,149,853,397	225	138	169		513	-6.6	0	X	dbSNP_129	169	472,5908		64,232,112,2078,1520	no	coding-synonymous	OPN1LW	NM_020061.4		240,833,261,2931,1917	TT,TG,T,GG,G		7.3981,28.9543,15.4526		171/365	153418516	1574,8612	2176	4006	6182	SO:0001819	synonymous_variant	5956	exon3			CATCGTGGGCATT	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.513G>T	X.37:g.153418516G>T		Somatic	464	1	0.00215517		WXS	Illumina HiSeq	Phase_I	1088	321	0.295037	NM_020061		Silent	SNP	ENST00000369951.4	37	CCDS14742.1																																																																																			.	.	weak		0.582	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		T	153418516	G	T	153418516	2	4	22	1	0	0	0	0	0	0	0	1	10877	1335	47	4		4	OPN1LW	23	153418516	Silent	SNP	G	TCGA-G8-6324-01A-11D-2210-10	2	153418516	1852044	11339	16447	356	3								
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153418524	153418524	+	Missense_Mutation	SNP	C	C	T													0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggccatcgtgggcattgCcttctcctggatctggtctg					rs149897670	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153418524C>T	ENST00000369951.4	+	3	581	c.521C>T	c.(520-522)gCc>gTc	p.A174V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	174			A -> V (in dbSNP:rs731613).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCATTGCCTTCTCCTGG	0.582													C|||	509	0.134834	0.1725	0.098	3775	,	,		13280	0.0536		0.0636	False		,,,				2504	0.0971				p.A174V		Atlas-SNP	.											.	OPN1LW	87	.	0			c.C521T						PASS	.	C	VAL/ALA	773,3029		92,471,118,1067,424	235	142	175		521	0	0.2	X	dbSNP_134	175	485,5896		66,226,127,2083,1504	no	missense	OPN1LW	NM_020061.4	64	158,697,245,3150,1928	TT,TC,T,CC,C		7.6007,20.3314,12.3539	benign	174/365	153418524	1258,8925	2172	4006	6178	SO:0001583	missense	5956	exon3			GCATTGCCTTCTC	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.521C>T	X.37:g.153418524C>T	ENSP00000358967:p.Ala174Val	Somatic	439	0	0		WXS	Illumina HiSeq	Phase_I	1010	311	0.307921	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	174	0.10488245931283906	50	0.10775862068965517	26	0.07602339181286549	18	0.031578947368421054	64	0.08767123287671233	C	0.005	-2.119635	0.00346	0.203314	0.076007	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.38077	1.16;1.16	4.57	-0.00794	0.14007	GPCR, rhodopsin-like superfamily (1);	0.553654	0.19908	N	0.103358	T	0.00012	0.0000	N	0.02854	-0.475	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.35674	-0.9779	9	0.02654	T	1	.	9.3456	0.38107	0.0:0.4905:0.0:0.5095	.	174	P04000	OPSR_HUMAN	V	174;37	ENSP00000358967:A174V;ENSP00000402493:A37V	ENSP00000358967:A174V	A	+	2	0	OPN1LW	153071718	0.000000	0.05858	0.238000	0.24106	0.026000	0.11368	-0.589000	0.05767	-0.099000	0.12263	-0.818000	0.03119	GCC	C|0.830;T|0.170	0.170	strong		0.582	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		T	153418524	C	T	153418524	3	4	22	1	0	0	0	0	1	0	0	0	10877	739	26	2	531	2	OPN1LW	23	153418524	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	8	153418524	1852036	11340	16448	356	3								
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153418535	153418535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgggcattgccttctcctggAtctggtctgctgtgtggaca	13	10	3	0	rs145009674	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153418535A>G	ENST00000369951.4	+	3	592	c.532A>G	c.(532-534)Atc>Gtc	p.I178V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	178					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCTCCTGGATCTGGTCTGC	0.577													A|||	138	0.0365563	0.053	0.0202	3775	,	,		13379	0.0188		0.0109	False		,,,				2504	0.0245				p.I178V		Atlas-SNP	.											.	OPN1LW	87	.	0			c.A532G	GRCh37	CM890024	OPN1LW	M	rs145009674	PASS	.	A	VAL/ILE	134,3668		8,91,27,1531,515	242	144	178		532	-5.9	0.8	X	dbSNP_134	178	84,6298		11,33,29,2333,1599	no	missense	OPN1LW	NM_020061.4	29	19,124,56,3864,2114	GG,GA,G,AA,A		1.3162,3.5245,2.1406	benign	178/365	153418535	218,9966	2172	4005	6177	SO:0001583	missense	5956	exon3			TCCTGGATCTGGT	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.532A>G	X.37:g.153418535A>G	ENSP00000358967:p.Ile178Val	Somatic	430	1	0.00232558		WXS	Illumina HiSeq	Phase_I	912	287	0.314693	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	36	0.0216998191681736	15	0.030612244897959183	6	0.016666666666666666	9	0.015734265734265736	10	0.013227513227513227	A	0.006	-2.074522	0.00379	0.035245	0.013162	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.37058	1.22;1.22	4.4	-5.92	0.02261	GPCR, rhodopsin-like superfamily (1);	0.592885	0.17274	N	0.180253	T	0.01695	0.0054	N	0.00504	-1.425	0.23700	N	0.997078	B	0.06786	0.001	B	0.09377	0.004	T	0.13926	-1.0491	10	0.02654	T	1	.	16.9735	0.86306	0.2531:0.0:0.7469:0.0	.	178	P04000	OPSR_HUMAN	V	178;41	ENSP00000358967:I178V;ENSP00000402493:I41V	ENSP00000358967:I178V	I	+	1	0	OPN1LW	153071729	0.000000	0.05858	0.847000	0.33407	0.049000	0.14656	-3.389000	0.00488	-1.404000	0.02050	-1.591000	0.00844	ATC	.	.	weak		0.577	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		G	153418535	A	G	153418535	3	3	22	1	0	0	0	0	1	0	0	0	10877	333	12	2	542	2	OPN1LW	23	153418535	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	11	153418535	1852025	11341	16449										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153420176	153420176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tcatcccactcgctatcatcAtgctctgctacctccaagtg	5	16	4	0	rs78093925	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153420176A>G	ENST00000369951.4	+	4	766	c.706A>G	c.(706-708)Atg>Gtg	p.M236V	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	236					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTATCATCATGCTCTGCTA	0.612													G|||	565	0.149669	0.3192	0.0562	3775	,	,		12001	0.0129		0.0616	False		,,,				2504	0.0297				p.M236V		Atlas-SNP	.											.	OPN1LW	87	.	0			c.A706G						PASS	.	G	VAL/MET	1403,2417		217,767,202,647,356	308	226	254		706	-3	0.2	X	dbSNP_131	254	634,6044		36,376,186,2014,1640	yes	missense	OPN1LW	NM_020061.4	21	253,1143,388,2661,1996	GG,GA,G,AA,A		9.4939,36.7277,19.4037	benign	236/365	153420176	2037,8461	2189	4252	6441	SO:0001583	missense	5956	exon4			ATCATCATGCTCT	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.706A>G	X.37:g.153420176A>G	ENSP00000358967:p.Met236Val	Somatic	618	1	0.00161812		WXS	Illumina HiSeq	Phase_I	929	485	0.522067	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	210	0.12658227848101267	88	0.2233502538071066	12	0.03428571428571429	4	0.007017543859649123	33	0.04583333333333333	G	0.007	-1.991273	0.00439	0.367277	0.094939	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.70282	-0.47;-0.47	4.27	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.428458	0.24742	N	0.035968	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.40459	-0.9562	9	0.25106	T	0.35	.	7.105	0.25358	0.3272:0.3964:0.2763:0.0	.	236	P04000	OPSR_HUMAN	V	236;99	ENSP00000358967:M236V;ENSP00000402493:M99V	ENSP00000358967:M236V	M	+	1	0	OPN1LW	153073370	0.000000	0.05858	0.239000	0.24122	0.134000	0.20937	-1.488000	0.02308	-0.716000	0.04962	-0.775000	0.03384	ATG	A|0.814;G|0.186	0.186	strong		0.612	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		G	153420176	A	G	153420176	3	3	22	1	0	0	0	0	1	0	0	0	10877	217	8	2	720	2	OPN1LW	23	153420176	Missense_Mutation	SNP	A	TCGA-G8-6324-01A-11D-2210-10	1641	153420176	1850384	11342	16450										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153421912	153421912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tttgctgctgccaaccctggTtacgccttccaccctttgat	7	15	0	1	rs1065439	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153421912T>C	ENST00000369951.4	+	5	948	c.888T>C	c.(886-888)ggT>ggC	p.G296G		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	296					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACCCTGGTTACGCCTTCC	0.537													C|||	566	0.149934	0.3245	0.0548	3775	,	,		14896	0.0159		0.0606	False		,,,				2504	0.0225				p.G296G		Atlas-SNP	.											.	OPN1LW	87	.	0			c.T888C						PASS	.	C		1383,2445		200,780,203,652,361	392	348	363		888	4.6	1	X	dbSNP_86	363	609,6091		23,378,185,2027,1659	no	coding-synonymous	OPN1LW	NM_020061.4		223,1158,388,2679,2020	CC,CT,C,TT,T		9.0896,36.1285,18.921		296/365	153421912	1992,8536	2196	4272	6468	SO:0001819	synonymous_variant	5956	exon5			CCCTGGTTACGCC	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.888T>C	X.37:g.153421912T>C		Somatic	763	2	0.00262123		WXS	Illumina HiSeq	Phase_I	1069	577	0.539757	NM_020061		Silent	SNP	ENST00000369951.4	37	CCDS14742.1																																																																																			0|0.004;C|0.185	0.185	strong		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		C	153421912	T	C	153421912	2	2	22	1	0	0	0	0	0	0	0	1	10877	1712	60	2		2	OPN1LW	23	153421912	Silent	SNP	T	TCGA-G8-6324-01A-11D-2210-10	1736	153421912	1848648	11343	16451										
FLNA	2316	hgsc.bcm.edu	37	chrX	153581214	153581214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tggggcagtaggtgaccctgCacgtcccgtcctccaggtcc	13	15	0	1			TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153581214C>A	ENST00000369850.3	-	39	6541	c.6305G>T	c.(6304-6306)tGc>tTc	p.C2102F	FLNA_ENST00000422373.1_Missense_Mutation_p.C2094F|FLNA_ENST00000360319.4_Missense_Mutation_p.C2094F|FLNA_ENST00000344736.4_Missense_Mutation_p.C2062F|FLNA_ENST00000369856.3_Missense_Mutation_p.C235F|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2102					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGACCCTGCACGTCCCGTC	0.607																																					p.C2102F		Atlas-SNP	.											.	FLNA	373	.	0			c.G6305T						PASS	.						108	109	109					X																	153581214		2157	4239	6396	SO:0001583	missense	2316	exon39			ACCCTGCACGTCC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6305G>T	X.37:g.153581214C>A	ENSP00000358866:p.Cys2102Phe	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	182	41	0.225275	NM_001110556	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241318	0.58995	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.73217	2.22	0.80722	D	1	D;D;B;B	0.71674	0.994;0.998;0.407;0.407	P;D;B;B	0.67900	0.89;0.954;0.356;0.356	D	0.91224	0.5009	10	0.72032	D	0.01	.	18.7428	0.91780	0.0:1.0:0.0:0.0	.	235;2094;2102;2102	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	F	2094;2094;2102;235;2062;83	ENSP00000353467:C2094F;ENSP00000416926:C2094F;ENSP00000358866:C2102F;ENSP00000358872:C235F;ENSP00000358863:C2062F;ENSP00000397824:C83F	ENSP00000358863:C2062F	C	-	2	0	FLNA	153234408	1.000000	0.71417	0.989000	0.46669	0.513000	0.34164	7.779000	0.85648	2.372000	0.80975	0.513000	0.50165	TGC	.	.	none		0.607	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153581214	C	A	153581214	3	1	22	1	0	0	0	0	1	0	0	0	5933	710	25	4	1678	4	FLNA	23	153581214	Missense_Mutation	SNP	C	TCGA-G8-6324-01A-11D-2210-10	159302	153581214	1689346	11344	16452										
PLXNA3	55558	hgsc.bcm.edu	37	chrX	153689893	153689893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	caacatcaatgcccacatccGgcgccgcatccagtcctgct	7	18	1	0	rs35285799	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153689893G>A	ENST00000369682.3	+	3	1224	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	350	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCACATCCGGCGCCGCATC	0.622													G|||	65	0.0172185	0.0023	0.0202	3775	,	,		14250	0.0		0.0447	False		,,,				2504	0.0031				p.R350Q		Atlas-SNP	.											.	PLXNA3	156	.	0			c.G1049A						PASS	.	G	GLN/ARG	34,3799		0,33,1,1599,568	137	138	138		1049	4.2	1	X	dbSNP_126	138	379,6345		13,245,108,2169,1762	yes	missense	PLXNA3	NM_017514.3	43	13,278,109,3768,2330	AA,AG,A,GG,G		5.6365,0.887,3.9121	probably-damaging	350/1872	153689893	413,10144	2201	4297	6498	SO:0001583	missense	55558	exon3			ACATCCGGCGCCG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1049G>A	X.37:g.153689893G>A	ENSP00000358696:p.Arg350Gln	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	29	0.674419	NM_017514	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	40	0.024110910186859555	2	0.0040650406504065045	5	0.014044943820224719	0	0.0	26	0.034759358288770054	G	16.30	3.085515	0.55861	0.00887	0.056365	ENSG00000130827	ENST00000369682	T	0.10477	2.87	5.08	4.22	0.49857	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.124247	0.53938	D	0.000051	T	0.00695	0.0023	N	0.16903	0.455	0.25046	P	0.99116214	B	0.29037	0.231	B	0.29598	0.104	T	0.16719	-1.0393	9	0.48119	T	0.1	.	8.1297	0.31020	0.1897:0.0:0.8103:0.0	rs35285799	350	P51805	PLXA3_HUMAN	Q	350	ENSP00000358696:R350Q	ENSP00000358696:R350Q	R	+	2	0	PLXNA3	153343087	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	3.197000	0.51028	1.121000	0.41925	0.600000	0.82982	CGG	G|0.967;A|0.033	0.033	strong		0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153689893	G	A	153689893	3	1	22	1	0	0	0	0	1	0	0	0	12121	1116	39	1	1055	1	PLXNA3	23	153689893	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	108679	153689893	1580667	11345	16453										
G6PD	2539	hgsc.bcm.edu	37	chrX	153763492	153763492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	tgaccccaggtggagggcatTcatgtggctgttgaggcgct	16	9	1	2	rs1050829|rs34233392	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:153763492T>C	ENST00000393564.2	-	5	488	c.376A>G	c.(376-378)Aat>Gat	p.N126D	G6PD_ENST00000393562.2_Missense_Mutation_p.N156D|G6PD_ENST00000369620.2_Missense_Mutation_p.N126D|G6PD_ENST00000497281.1_5'UTR	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	126			N -> D (in A(+), A(-), Santa Maria; class IV and in Mount Sinai; class I; dbSNP:rs1050829). {ECO:0000269|PubMed:12524354, ECO:0000269|PubMed:1889820, ECO:0000269|PubMed:2836867, ECO:0000269|PubMed:3446582, ECO:0000269|PubMed:8733135, ECO:0000269|PubMed:9452072}.		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGAGGGCATTCATGTGGCTG	0.592													T|||	357	0.0945695	0.2564	0.0216	3775	,	,		14707	0.0		0.003	False		,,,				2504	0.0				p.N156D		Atlas-SNP	.											.	G6PD	73	.	0			c.A466G	GRCh37	CM880030	G6PD	M	rs1050829	PASS	.	T	ASP/ASN,ASP/ASN	1195,2640		161,694,179,777,392	126	94	105	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	466,376	0.5	0	X	dbSNP_86	105	4,6724		0,2,2,2426,1870	yes	missense,missense	G6PD	NM_000402.3,NM_001042351.1	23,23	161,696,181,3203,2262	CC,CT,C,TT,T		0.0595,31.1604,11.3509	benign,benign	156/546,126/516	153763492	1199,9364	2203	4300	6503	SO:0001583	missense	2539	exon5			GGGCATTCATGTG	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.376A>G	X.37:g.153763492T>C	ENSP00000377194:p.Asn126Asp	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	235	78	0.331915	NM_000402	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	135	0.081374321880651	85	0.20432692307692307	9	0.025	0	0.0	2	0.0026455026455026454	T	4.463	0.085705	0.08583	0.311604	5.95E-4	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	5.67	0.495	0.16890	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.730689	0.13899	N	0.355051	T	0.00039	0.0001	N	0.05510	-0.035	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.53933	-0.8368	9	0.20046	T	0.44	.	4.889	0.13717	0.0:0.2505:0.147:0.6025	rs1050829;rs2230035;rs3191189	126;156	P11413;P11413-3	G6PD_HUMAN;.	D	156;126;126;126;126;126;126	ENSP00000377192:N156D;ENSP00000377194:N126D;ENSP00000358633:N126D;ENSP00000395599:N126D;ENSP00000400648:N126D;ENSP00000394690:N126D	ENSP00000291567:N126D	N	-	1	0	G6PD	153416686	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.234000	0.09028	-0.267000	0.09325	0.486000	0.48141	AAT	T|0.844;0|0.051	.	strong		0.592	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		C	153763492	T	C	153763492	3	2	22	1	0	0	0	0	1	0	0	0	6146	1783	62	2	1207	2	G6PD	23	153763492	Missense_Mutation	SNP	T	TCGA-G8-6324-01A-11D-2210-10	73599	153763492	1507068	11346	16454										
DKC1	1736	hgsc.bcm.edu	37	chrX	154004584	154004584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	gctggtctggagagcggggcCgagcctggagatggggtgtg	22	7	1	2	rs1127051	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:154004584C>T	ENST00000369550.5	+	14	1671	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	487	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAGCGGGGCCGAGCCTGGAG	0.532									Congenital Dyskeratosis				C|||	233	0.0617219	0.093	0.0346	3775	,	,		14744	0.0337		0.0487	False		,,,				2504	0.0031				p.A487A		Atlas-SNP	.											.	DKC1	41	.	0			c.C1461T						PASS	.	C	,	479,3354		30,351,68,1251,501	55	46	49		1446,1461	0.6	0	X	dbSNP_86	49	458,6267		16,299,127,2113,1742	no	coding-synonymous,coding-synonymous	DKC1	NM_001142463.1,NM_001363.3	,	46,650,195,3364,2243	TT,TC,T,CC,C		6.8104,12.4967,8.8748	,	482/510,487/515	154004584	937,9621	2201	4297	6498	SO:0001819	synonymous_variant	1736	exon14	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	CGGGGCCGAGCCT	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1461C>T	X.37:g.154004584C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	144	96	0.666667	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	CCDS14761.1																																																																																			C|0.921;T|0.079	0.079	strong		0.532	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		T	154004584	C	T	154004584	2	4	22	1	0	0	0	0	0	0	0	1	4542	639	23	1		1	DKC1	23	154004584	Silent	SNP	C	TCGA-G8-6324-01A-11D-2210-10	241092	154004584	1265976	11347	16455										
F8	2157	hgsc.bcm.edu	37	chrX	154158285	154158285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0397321024527107	439	1	0.582829134290708	1.15674177715395	0.478521561155763	1.76874615361449e-28	7.25185922981941e-27	0	agtactggagcatatgccccGtcatatgaaccttctacatt	7	11	2	1	rs1800291	byFrequency	TCGA-G8-6324-01A-11D-2210-10	TCGA-G8-6324-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	707a995c-8926-4885-9a96-14690480f680	b7d0d7b7-70a7-40a0-818b-06ef40f7f580	g.chrX:154158285G>C	ENST00000360256.4	-	14	3980	c.3780C>G	c.(3778-3780)gaC>gaG	p.D1260E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1260	B.		D -> E (in dbSNP:rs1800291). {ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:8644728, ECO:0000269|Ref.6}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATATGCCCCGTCATATGAAC	0.373													C|||	968	0.256424	0.5408	0.1282	3775	,	,		13663	0.0327		0.1004	False		,,,				2504	0.0307				p.D1260E		Atlas-SNP	.											.	F8	646	.	0			c.C3780G	GRCh37	CM960556	F8	M	rs1800291	PASS	.	C	GLU/ASP	2492,1343		702,712,376,218,195	93	80	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3780	0.8	0	X	dbSNP_89	84	1168,5559		77,709,305,1642,1566	yes	missense	F8	NM_000132.3	45	779,1421,681,1860,1761	CC,CG,C,GG,G		17.3629,35.0196,34.6525	benign	1260/2352	154158285	3660,6902	2203	4299	6502	SO:0001583	missense	2157	exon14			TGCCCCGTCATAT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3780C>G	X.37:g.154158285G>C	ENSP00000353393:p.Asp1260Glu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	95	34	0.357895	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	408	0.24593128390596744	167	0.5030120481927711	34	0.10303030303030303	21	0.03804347826086957	57	0.0800561797752809	c	0.001	-2.940936	0.00052	0.649804	0.173629	ENSG00000185010	ENST00000360256	D	0.98777	-5.13	5.0	0.78	0.18556	.	0.229900	0.30311	N	0.009907	T	0.00012	0.0000	N	0.00104	-2.125	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	9	0.02654	T	1	-0.5074	4.356	0.11178	0.0:0.3526:0.1713:0.476	rs1800291;rs12857528;rs52807479;rs1800291	1260	P00451	FA8_HUMAN	E	1260	ENSP00000353393:D1260E	ENSP00000353393:D1260E	D	-	3	2	F8	153811479	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.490000	0.06482	-0.282000	0.09128	-0.260000	0.10688	GAC	G|0.649;0|0.032	.	strong		0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			C	154158285	G	C	154158285	3	2	22	1	0	0	0	0	1	0	0	0	5350	1136	40	4	3355	4	F8	23	154158285	Missense_Mutation	SNP	G	TCGA-G8-6324-01A-11D-2210-10	153701	154158285	1112275	11348	16456										
KLHL17	339451	hgsc.bcm.edu	37	chr1	899824	899824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtacgtggcagggggcaaCgacggcaccagctgcctcaa	14	13	1	0	rs201807567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:899824C>T	ENST00000338591.3	+	11	1721	c.1614C>T	c.(1612-1614)aaC>aaT	p.N538N	PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	538	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGGGGGCAACGACGGCACCA	0.667													C|||	11	0.00219649	0.0	0.0014	5008	,	,		10445	0.001		0.006	False		,,,				2504	0.0031				p.N538N		Atlas-SNP	.											.	KLHL17	31	.	0			c.C1614T						PASS	.	C		1,4119		0,1,2059	15	16	16		1614	-2.8	1	1		16	27,8173		0,27,4073	no	coding-synonymous	KLHL17	NM_198317.2		0,28,6132	TT,TC,CC		0.3293,0.0243,0.2273		538/643	899824	28,12292	2060	4100	6160	SO:0001819	synonymous_variant	339451	exon11			GGGCAACGACGGC	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1614C>T	1.37:g.899824C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	48	38	0.791667	NM_198317	Q5SV94	Silent	SNP	ENST00000338591.3	37	CCDS30550.1																																																																																			C|0.996;T|0.004	0.004	strong		0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		T	899824	C	T	899824	2	4	23	1	0	0	0	0	0	0	0	1	8372	535	19	1		1	KLHL17	1	899824	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10		899824	248350797	1	16457										
C1orf159	54991	hgsc.bcm.edu	37	chr1	1021346	1021346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaggatgaggccggagctAatgaagaacgtgcccaggaa	16	7	0	4	rs10907177	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1021346A>G	ENST00000379339.1	-	9	675	c.465T>C	c.(463-465)atT>atC	p.I155I	C1orf159_ENST00000421241.2_Silent_p.I119I|C1orf159_ENST00000437760.1_Silent_p.I119I|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379319.1_Silent_p.I119I|C1orf159_ENST00000379320.1_Silent_p.I119I|C1orf159_ENST00000294576.5_Silent_p.I119I|C1orf159_ENST00000448924.1_Silent_p.I155I			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	155						integral component of membrane (GO:0016021)						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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGCCGGAGCTAATGAAGAACG	0.622													G|||	896	0.178914	0.239	0.1311	5008	,	,		16405	0.122		0.1809	False		,,,				2504	0.1881				p.I119I		Atlas-SNP	.											.	C1orf159	9	.	0			c.T357C						PASS	.	G		1072,3334	717.9+/-408.8	131,810,1262	68	66	67		357	2.8	0.9	1	dbSNP_120	67	1362,7238	753.5+/-407.4	103,1156,3041	no	coding-synonymous	C1orf159	NM_017891.4		234,1966,4303	GG,GA,AA		15.8372,24.3305,18.7144		119/199	1021346	2434,10572	2203	4300	6503	SO:0001819	synonymous_variant	54991	exon7			GGAGCTAATGAAG	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.465T>C	1.37:g.1021346A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	47	31	0.659574	NM_017891	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Silent	SNP	ENST00000379339.1	37																																																																																				A|0.814;G|0.186	0.186	strong		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		G	1021346	A	G	1021346	2	3	23	1	0	0	0	0	0	0	0	1	2008	358	13	2		2	C1orf159	1	1021346	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	121522	1021346	248229275	2	16458										
SCNN1D	6339	hgsc.bcm.edu	37	chr1	1220954	1220954	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacttgcctttgggtagatcGcctgggcctgtggctcccca	12	13	0	1	rs12751100	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1220954G>A	ENST00000338555.2	+	4	1210				SCNN1D_ENST00000379116.5_Silent_p.S156S|SCNN1D_ENST00000325425.8_Silent_p.S58S|SCNN1D_ENST00000467651.2_3'UTR|SCNN1D_ENST00000400928.3_Intron			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TGGGTAGATCGCCTGGGCCTG	0.657													A|||	2217	0.442692	0.7073	0.3386	5008	,	,		18800	0.6498		0.0368	False		,,,				2504	0.363				p.S156S		Atlas-SNP	.											.	SCNN1D	60	.	0			c.G468A						PASS	.			849,535		251,347,94	47	52	50		468	-2.5	0	1	dbSNP_121	50	112,3064		1,110,1477	yes	coding-synonymous	SCNN1D	NM_001130413.3		252,457,1571	AA,AG,GG		3.5264,38.6561,21.0746		156/803	1220954	961,3599	692	1588	2280	SO:0001627	intron_variant	6339	exon6			TAGATCGCCTGGG	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.67-352G>A	1.37:g.1220954G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	97	28	0.28866	NM_001130413	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37		851	0.38965201465201466	353	0.717479674796748	103	0.2845303867403315	367	0.6416083916083916	28	0.036939313984168866	a	4.173	0.030685	0.08101	0.613439	0.035264	ENSG00000162572	ENST00000379110	.	.	.	1.93	-2.48	0.06423	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51767	P	6.899999999998574E-5	.	.	.	.	.	.	T	0.35351	-0.9792	4	0.44086	T	0.13	.	0.2618	0.00219	0.2696:0.1958:0.148:0.3866	rs12751100;rs61637230	.	.	.	T	24	.	ENSP00000368404:A24T	A	+	1	0	SCNN1D	1210817	0.000000	0.05858	0.011000	0.14972	0.014000	0.08584	-1.094000	0.03359	-1.242000	0.02523	-0.809000	0.03173	GCC	G|0.609;A|0.391	0.391	strong		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1220954	G	A	1220954	1	1	23	0	1	0	0	0	0	0	0	0	13929	1074	38	1		1	SCNN1D	1	1220954	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	199608	1220954	248029667	3	16459										
SCNN1D	6339	hgsc.bcm.edu	37	chr1	1223385	1223385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggggaaggcgtggaggtgGagctgctacacaacacctcc	16	11	0	0	rs2228579	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1223385G>C	ENST00000338555.2	+	9	2282	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	SCNN1D_ENST00000379116.5_Missense_Mutation_p.E544Q|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E446Q|SCNN1D_ENST00000400928.3_Missense_Mutation_p.E380Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	380			E -> Q (in dbSNP:rs2228579). {ECO:0000269|PubMed:15489334}.		ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGGAGGTGGAGCTGCTACA	0.721													G|||	1641	0.327676	0.354	0.2925	5008	,	,		11106	0.6111		0.0229	False		,,,				2504	0.3384				p.E544Q		Atlas-SNP	.											.	SCNN1D	60	.	0			c.G1630C						PASS	.	G	GLN/GLU	1103,2955		124,855,1050	8	9	9		1630	1.4	0	1	dbSNP_131	9	139,8021		2,135,3943	yes	missense	SCNN1D	NM_001130413.3	29	126,990,4993	CC,CG,GG		1.7034,27.1809,10.1653	benign	544/803	1223385	1242,10976	2029	4080	6109	SO:0001583	missense	6339	exon12			GAGGTGGAGCTGC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1138G>C	1.37:g.1223385G>C	ENSP00000339504:p.Glu380Gln	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	81	8	0.0987654	NM_001130413	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		616|616	0.28205128205128205|0.28205128205128205	168|168	0.34146341463414637|0.34146341463414637	83|83	0.2292817679558011|0.2292817679558011	347|347	0.6066433566433567|0.6066433566433567	18|18	0.023746701846965697|0.023746701846965697	G|G	3.550|3.550	-0.091787|-0.091787	0.07053|0.07053	0.271809|0.271809	0.017034|0.017034	ENSG00000162572|ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928|ENST00000379099	T;T;T;T|.	0.68624|.	-0.34;-0.31;-0.32;-0.31|.	3.48|3.48	1.41|1.41	0.22369|0.22369	.|.	2.573000|.	0.02749|.	N|.	0.117187|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04636|0.04636	-0.2|-0.2	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.15930|.	0.015;0.005;0.004|.	B;B;B|.	0.20577|.	0.03;0.01;0.003|.	T|T	0.39563|0.39563	-0.9608|-0.9608	9|4	0.12430|.	T|.	0.62|.	.|.	10.1098|10.1098	0.42555|0.42555	0.1355:0.2843:0.5802:0.0|0.1355:0.2843:0.5802:0.0	rs2228579;rs13306644|rs2228579;rs13306644	202;380;544|.	B1AMF2;P51172;A6NNF7|.	.;SCNND_HUMAN;.|.	Q|A	411;544;380;446;380|196	ENSP00000368411:E544Q;ENSP00000339504:E380Q;ENSP00000321594:E446Q;ENSP00000383717:E380Q|.	ENSP00000321594:E446Q|.	E|G	+|+	1|2	0|0	SCNN1D|SCNN1D	1213248|1213248	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.131000|0.131000	0.20780|0.20780	-0.413000|-0.413000	0.07123|0.07123	0.096000|0.096000	0.17463|0.17463	-0.802000|-0.802000	0.03209|0.03209	GAG|GGA	G|0.717;C|0.283	0.283	strong		0.721	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		C	1223385	G	C	1223385	3	2	23	1	0	0	0	0	1	0	0	0	13929	1175	41	4	1370	4	SCNN1D	1	1223385	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2431	1223385	248027236	4	16460										
ATAD3C	219293	hgsc.bcm.edu	37	chr1	1390875	1390875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctcagtcgaccccaggaCgtgctggagggtgttgtgct	14	12	1	0	rs1781147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1390875C>T	ENST00000378785.2	+	5	1409	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	138							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCCCAGGACGTGCTGGAGG	0.677													c|||	2129	0.42512	0.528	0.4323	5008	,	,		12946	0.499		0.1879	False		,,,				2504	0.4489				p.D138D		Atlas-SNP	.											ATAD3C,NS,carcinoma,+2,1	ATAD3C	23	1	0			c.C414T						scavenged	.	C		656,728		164,328,200	61	62	62		414	-1.4	0.2	1	dbSNP_89	62	617,2565		72,473,1046	no	coding-synonymous	ATAD3C	NM_001039211.2		236,801,1246	TT,TC,CC		19.3903,47.3988,27.88		138/412	1390875	1273,3293	692	1591	2283	SO:0001819	synonymous_variant	219293	exon5			CCAGGACGTGCTG	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.414C>T	1.37:g.1390875C>T		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	81	14	0.17284	NM_001039211	Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																			C|0.608;T|0.392	0.392	strong		0.677	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1390875	C	T	1390875	2	4	23	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1390875	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	167490	1390875	247859746	5	16461										
ATAD3B	83858	hgsc.bcm.edu	37	chr1	1412681	1412681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaggaggccctgaatctggCgcagatgcaggagcagacgc	15	11	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1412681C>T	ENST00000308647.7	+	2	349	c.233C>T	c.(232-234)gCg>gTg	p.A78V	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	78						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGAATCTGGCGCAGATGCAG	0.622																																					p.A78V		Atlas-SNP	.											ATAD3B_ENST00000378741,right_upper_lobe,carcinoma,-1,2	ATAD3B	68	2	0			c.C233T						scavenged	.						46	44	45					1																	1412681		2203	4295	6498	SO:0001583	missense	83858	exon2			ATCTGGCGCAGAT	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.233C>T	1.37:g.1412681C>T	ENSP00000311766:p.Ala78Val	Somatic	392	0	0		WXS	Illumina HiSeq	Phase_I	250	3	0.012	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.639858	0.47153	.	.	ENSG00000160072	ENST00000360489;ENST00000308647	T	0.30448	1.53	2.9	2.9	0.33743	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.296096	0.36268	N	0.002685	T	0.37404	0.1002	M	0.71206	2.165	0.80722	D	1	P	0.52577	0.954	P	0.49226	0.603	T	0.30592	-0.9973	10	0.14252	T	0.57	.	12.9335	0.58301	0.0:1.0:0.0:0.0	.	78	Q5T9A4	ATD3B_HUMAN	V	78	ENSP00000311766:A78V	ENSP00000311766:A78V	A	+	2	0	ATAD3B	1402544	0.999000	0.42202	0.766000	0.31476	0.127000	0.20565	4.685000	0.61693	1.460000	0.47911	0.306000	0.20318	GCG	.	.	none		0.622	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		T	1412681	C	T	1412681	3	4	23	1	0	0	0	0	1	0	0	0	1074	768	27	1	239	1	ATAD3B	1	1412681	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21806	1412681	247837940	6	16462										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1887092	1887112	+	IGR	DEL	GCCCGCCCACCCTGGCTTGGC	GCCCGCCCACCCTGGCTTGGC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgccctgaggccctcaccGcccgcccaccctggcttggc					rs3838976|rs199780644|rs3838975|rs562842260|rs139735565	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GCCCGCCCACCCTGGCTTGGC	GCCCGCCCACCCTGGCTTGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1887092_1887112delGCCCGCCCACCCTGGCTTGGC								TMEM52 (36380 upstream) : C1orf222 (32450 downstream)														p.W736R(1)|p.K733N(1)									GGCCCTCACCGCCCGCCCACCCTGGCTTGGCCTGGCAGCCT	0.643																																					p.732_739del		Pindel	.											.	KIAA1751	92	.	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.2195_2215del						PASS	.																																			SO:0001628	intergenic_variant	85452	exon18			.																													1.37:g.1887092_1887112delGCCCGCCCACCCTGGCTTGGC		Somatic	110	.	.		WXS	Illumina HiSeq	Phase_I	61	24	0.393	NM_001080484		In_Frame_Del	DEL		37																																																																																				-|0.223;G|0.777	0.223	alt	0	0.643									-	1887112	GCCCGCCCACCCTGGCTTGGC	-	1887092	6	5	23	0	1	1	0	1	0	0	0	0	8256	1074	38	0		0	KIAA1751	1	1887092	IGR	DEL	GCCCGCCCACCCTGGCTTGGC	TCGA-GR-7353-01A-11D-2210-10	474411	1887092	247363529	7	16463										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1887245	1887245	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctcagagaagctggtggcGgctttgtcatacaagctttt	12	8	2	1	rs28575980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1887245G>A								TMEM52 (36533 upstream) : C1orf222 (32317 downstream)																							AGCTGGTGGCGGCTTTGTCAT	0.562													G|||	908	0.18131	0.1044	0.219	5008	,	,		17542	0.2292		0.2316	False		,,,				2504	0.1575				p.A687A		Atlas-SNP	.											KIAA1751,NS,carcinoma,0,1	KIAA1751	92	1	0			c.C2061T						PASS	.	G		517,3601		38,441,1580	44	48	47		2061	-1.6	0	1	dbSNP_125	47	2075,6339		258,1559,2390	no	coding-synonymous	KIAA1751	NM_001080484.1		296,2000,3970	AA,AG,GG		24.6613,12.5546,20.6831		687/763	1887245	2592,9940	2059	4207	6266	SO:0001628	intergenic_variant	85452	exon18			GGTGGCGGCTTTG																													1.37:g.1887245G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	58	57	0.982759	NM_001080484		Silent	SNP		37		480	0.21978021978021978	59	0.11991869918699187	82	0.2265193370165746	159	0.27797202797202797	180	0.23746701846965698	G	3.005	-0.205185	0.06180	0.125546	0.246613	ENSG00000142609	ENST00000493316	.	.	.	2.8	-1.58	0.08479	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.35724	-0.9777	3	.	.	.	-1.4405	5.1203	0.14856	0.3205:0.1589:0.5206:0.0	rs28575980;rs61496843	.	.	.	L	93	.	.	P	-	2	0	C1orf222	1877105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.129000	0.15830	-0.723000	0.04915	-1.119000	0.02030	CCG	G|0.777;A|0.223	0.223	strong	0	0.562									A	1887245	G	A	1887245	1	1	23	0	1	0	0	0	0	0	0	0	8256	1103	39	1		1	KIAA1751	1	1887245	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	153	1887245	247363376	8	16464										
KIAA1751	85452	hgsc.bcm.edu	37	chr1	1900106	1900107	+	IGR	INS	-	-	CTC													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggttgggactgtggtcttINScttgcaaaagtcagaaatgt					rs61233860|rs145742571|rs72634902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:1900106_1900107insCTC								TMEM52 (49394 upstream) : C1orf222 (19455 downstream)																							ACTGTGGTCTTCTTGCAAAAGT	0.569														997	0.199081	0.1324	0.1945	5008	,	,		21168	0.3284		0.2376	False		,,,				2504	0.1196				p.K405delinsEK		Pindel,Atlas-Indel	.											.	KIAA1751	92	.	0			c.1213_1214insGAG						PASS	.			643,3311		79,485,1413						-3.9	0		dbSNP_129	188	1999,6033		265,1469,2282	no	coding	KIAA1751	NM_001080484.1		344,1954,3695	A1A1,A1R,RR		24.8879,16.262,22.0424				2642,9344				SO:0001628	intergenic_variant	85452	exon11			.																													1.37:g.1900106_1900107insCTC		Somatic	205	.	.		WXS	Illumina HiSeq	Phase_I	119	58	0.487	NM_001080484		In_Frame_Ins	INS		37																																																																																				.	.	strong	0	0.569									CTC	1900107	-	CTC	1900106	6	5	23	0	1	1	1	0	0	0	0	0	8256	1792	62	0		0	KIAA1751	1	1900106	IGR	INS	-	TCGA-GR-7353-01A-11D-2210-10	12861	1900106	247350515	9	16465										
PEX10	5192	hgsc.bcm.edu	37	chr1	2340212	2340212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatgcagtgtcaccagcacGccacggcgcagcgaggaggg	16	13	1	0	rs1143016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:2340212G>A	ENST00000447513.2	-	3	347	c.279C>T	c.(277-279)ggC>ggT	p.G93G	PEX10_ENST00000507596.1_Silent_p.G93G|PEX10_ENST00000288774.3_Silent_p.G93G|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	93					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.G93G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TCACCAGCACGCCACGGCGCA	0.662													G|||	100	0.0199681	0.0053	0.0115	5008	,	,		18508	0.001		0.0596	False		,,,				2504	0.0245				p.G93G	GBM(12;9 508 1649 13619)	Atlas-SNP	.											.	PEX10	18	.	1	Substitution - coding silent(1)	lung(1)	c.C279T						PASS	.	G	,	65,4341	61.1+/-98.1	1,63,2139	97	96	97	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	279,279	-9.2	0	1	dbSNP_86	97	539,8061	148.8+/-204.0	20,499,3781	no	coding-synonymous,coding-synonymous	PEX10	NM_002617.3,NM_153818.1	,	21,562,5920	AA,AG,GG		6.2674,1.4753,4.644	,	93/327,93/347	2340212	604,12402	2203	4300	6503	SO:0001819	synonymous_variant	5192	exon3			CAGCACGCCACGG	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.279C>T	1.37:g.2340212G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	104	77	0.740385	NM_002617	B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	CCDS44045.1																																																																																			G|0.960;A|0.040	0.040	strong		0.662	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		A	2340212	G	A	2340212	2	1	23	1	0	0	0	0	0	0	0	1	11736	1074	38	1		1	PEX10	1	2340212	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	440106	2340212	246910409	10	16466										
TNFRSF14	8764	hgsc.bcm.edu	37	chr1	2488153	2488153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccctggagatccacccccaAaaccgacgtcttgaggctgg	10	15	1	2	rs4870	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:2488153A>G	ENST00000355716.4	+	1	349	c.50A>G	c.(49-51)aAa>aGa	p.K17R	RP3-395M20.8_ENST00000452793.1_RNA|RP3-395M20.8_ENST00000416860.2_RNA|TNFRSF14_ENST00000442392.2_3'UTR|TNFRSF14_ENST00000409119.1_Missense_Mutation_p.K17R	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	17			K -> R (in dbSNP:rs4870). {ECO:0000269|PubMed:11756979, ECO:0000269|PubMed:12975309, ECO:0000269|Ref.8}.		cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|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;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TCCACCCCCAAAACCGACGTC	0.647			"Mis, N, F"		follicular lymphoma								a|||	3079	0.614816	0.7837	0.5303	5008	,	,		14854	0.5397		0.4682	False		,,,				2504	0.6748				p.K17R		Atlas-SNP	.		Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	.	TNFRSF14	89	.	0			c.A50G						PASS	.	A	ARG/LYS	3193,1203		1166,861,171	43	47	45		50	-1.1	0	1	dbSNP_52	45	4058,4540		951,2156,1192	yes	missense	TNFRSF14	NM_003820.2	26	2117,3017,1363	GG,GA,AA		47.197,27.3658,44.1973	probably-damaging	17/284	2488153	7251,5743	2198	4299	6497	SO:0001583	missense	8764	exon1			CCCCCAAAACCGA	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.50A>G	1.37:g.2488153A>G	ENSP00000347948:p.Lys17Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	71	9	0.126761	NM_003820	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	CCDS44046.1	1191	0.5453296703296703	365	0.741869918699187	193	0.5331491712707183	273	0.4772727272727273	360	0.47493403693931396	a	10.75	1.437826	0.25900	0.726342	0.47197	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000423768;ENST00000355716	D;D;D;D;D;D	0.88664	-2.37;-2.21;-2.21;-2.21;-2.41;-2.17	2.4	-1.09	0.09904	.	.	.	.	.	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	P;B	0.37864	0.61;0.388	B;B	0.33196	0.145;0.159	T	0.44757	-0.9307	8	0.20519	T	0.43	-1.9033	7.533	0.27693	0.3838:0.6162:0.0:0.0	.	17;17	B4DU65;Q92956	.;TNR14_HUMAN	R	17	ENSP00000411854:K17R;ENSP00000415254:K17R;ENSP00000399292:K17R;ENSP00000399533:K17R;ENSP00000386859:K17R;ENSP00000347948:K17R	ENSP00000347948:K17R	K	+	2	0	TNFRSF14	2486265	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.251000	0.08818	-0.205000	0.10219	0.247000	0.18012	AAA	A|0.440;G|0.560	0.560	strong		0.647	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			G	2488153	A	G	2488153	3	3	23	1	0	0	0	0	1	0	0	0	16286	14	1	2	52	2	TNFRSF14	1	2488153	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	147941	2488153	246762468	11	16467										
MMEL1	79258	hgsc.bcm.edu	37	chr1	2526746	2526746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcgtccaggcgcctgttcAtctcctccaggatgtagtca	9	15	3	0	rs3748816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:2526746A>G	ENST00000378412.3	-	16	1714	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	MMEL1_ENST00000502556.1_Missense_Mutation_p.M361T|MMEL1_ENST00000288709.6_Missense_Mutation_p.M509T			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	518			M -> T (in dbSNP:rs3748816). {ECO:0000269|PubMed:15489334}.			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)		GCGCCTGTTCATCTCCTCCAG	0.647													G|||	2711	0.541334	0.7284	0.487	5008	,	,		15245	0.5407		0.332	False		,,,				2504	0.5429				p.M518T		Atlas-SNP	.											.	MMEL1	64	.	0			c.T1553C						PASS	.	G	THR/MET	3002,1404	459.8+/-352.4	1022,958,223	70	66	67	http://www.ncbi.nlm.nih.gov/pubmed?term	1553	-5.5	0	1	dbSNP_107	67	2892,5708	671.0+/-402.8	487,1918,1895	yes	missense	MMEL1	NM_033467.3	81	1509,2876,2118	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	33.6279,31.8656,45.3175	benign	518/780	2526746	5894,7112	2203	4300	6503	SO:0001583	missense	79258	exon16			CTGTTCATCTCCT	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.1553T>C	1.37:g.2526746A>G	ENSP00000367668:p.Met518Thr	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	146	39	0.267123	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	1043	0.4775641025641026	347	0.7052845528455285	165	0.4558011049723757	278	0.486013986013986	253	0.3337730870712401	G	0	-2.755514	0.00085	0.681344	0.336279	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.81579	-1.51;-1.51;-1.51	4.89	-5.48	0.02592	.	1.727810	0.02496	N	0.089927	T	0.00012	0.0000	N	0.00446	-1.495	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	9	0.08381	T	0.77	-0.0773	2.1612	0.03825	0.1136:0.2449:0.3589:0.2826	rs3748816;rs61663127;rs3748816	518	Q495T6	MMEL1_HUMAN	T	361;509;518;361	ENSP00000288709:M509T;ENSP00000367668:M518T;ENSP00000422492:M361T	ENSP00000288709:M509T	M	-	2	0	MMEL1	2516606	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.199000	0.00561	-1.671000	0.01466	-2.367000	0.00236	ATG	A|0.529;G|0.471	0.471	strong		0.647	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		G	2526746	A	G	2526746	3	3	23	1	0	0	0	0	1	0	0	0	9646	217	8	2	822	2	MMEL1	1	2526746	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	38593	2526746	246723875	12	16468										
MMEL1	79258	hgsc.bcm.edu	37	chr1	2535613	2535613	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgtgtctccagctccagCacctgcaccatgtcctcctg	8	17	1	0	rs4648562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:2535613C>A	ENST00000378412.3	-	10	1085	c.924G>T	c.(922-924)gtG>gtT	p.V308V	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Silent_p.V299V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	308						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)		CCAGCTCCAGCACCTGCACCA	0.677													C|||	2484	0.496006	0.6112	0.4481	5008	,	,		12736	0.5288		0.3121	False		,,,				2504	0.5297				p.V308V		Atlas-SNP	.											.	MMEL1	64	.	0			c.G924T						PASS	.	C		2518,1888		728,1062,413	36	36	36		924	3.5	1	1	dbSNP_111	36	2731,5867		435,1861,2003	no	coding-synonymous	MMEL1	NM_033467.3		1163,2923,2416	AA,AC,CC		31.7632,42.8507,40.3645		308/780	2535613	5249,7755	2203	4299	6502	SO:0001819	synonymous_variant	79258	exon10			CTCCAGCACCTGC	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.924G>T	1.37:g.2535613C>A		Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	140	31	0.221429	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2	947	0.4336080586080586	289	0.5873983739837398	150	0.4143646408839779	271	0.4737762237762238	237	0.31266490765171506	C	0.350	-0.945647	0.02304	0.571493	0.317632	ENSG00000142606	ENST00000378411	.	.	.	4.43	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4639	0.04548	0.1496:0.533:0.1454:0.1719	rs4648562	.	.	.	.	-1	.	.	.	-	.	.	MMEL1	2525473	0.994000	0.37717	0.999000	0.59377	0.089000	0.18198	0.369000	0.20416	0.930000	0.37217	-0.687000	0.03738	.	C|0.594;A|0.406	0.406	strong		0.677	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2535613	C	A	2535613	2	1	23	1	0	0	0	0	0	0	0	1	9646	697	25	4		4	MMEL1	1	2535613	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8867	2535613	246715008	13	16469										
ACTRT2	140625	hgsc.bcm.edu	37	chr1	2938989	2938989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagtacaagctgcccgacGggaacatcatcagcctcggg	14	12	2	0	rs3795263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:2938989G>A	ENST00000378404.2	+	1	944	c.739G>A	c.(739-741)Ggg>Agg	p.G247R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	247			G -> R (in dbSNP:rs3795263).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCCCGACGGGAACATCAT	0.652													G|||	611	0.122005	0.0106	0.121	5008	,	,		16197	0.1607		0.2584	False		,,,				2504	0.093				p.G247R		Atlas-SNP	.											.	ACTRT2	69	.	0			c.G739A						PASS	.	G	ARG/GLY	218,4188		11,196,1996	36	41	40		739	4.8	0.9	1	dbSNP_107	40	2009,6589		245,1519,2535	yes	missense	ACTRT2	NM_080431.4	125	256,1715,4531	AA,AG,GG		23.3659,4.9478,17.1255	probably-damaging	247/378	2938989	2227,10777	2203	4299	6502	SO:0001583	missense	140625	exon1			CCCGACGGGAACA	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.739G>A	1.37:g.2938989G>A	ENSP00000367658:p.Gly247Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	47	35	0.744681	NM_080431	B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	CCDS45.1	348	0.15934065934065933	4	0.008130081300813009	57	0.1574585635359116	96	0.16783216783216784	191	0.2519788918205805	G	16.11	3.029664	0.54790	0.049478	0.233659	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97089	-4.24	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000026	T	0.01254	0.0041	M	0.94142	3.5	0.09310	P	0.99999892596	D	0.89917	1.0	D	0.83275	0.996	T	0.00000	-1.6286	9	0.87932	D	0	.	11.1701	0.48567	0.0907:0.0:0.9093:0.0	rs3795263;rs17390011;rs60765657;rs3795263	247	Q8TDY3	ACTT2_HUMAN	R	247	ENSP00000367658:G247R	ENSP00000367658:G247R	G	+	1	0	ACTRT2	2928849	1.000000	0.71417	0.915000	0.36163	0.341000	0.28922	6.582000	0.74049	2.228000	0.72767	0.561000	0.74099	GGG	G|0.842;A|0.158	0.158	strong		0.652	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		A	2938989	G	A	2938989	3	1	23	1	0	0	0	0	1	0	0	0	219	1116	39	1	741	1	ACTRT2	1	2938989	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	403376	2938989	246311632	14	16470										
MEGF6	1953	hgsc.bcm.edu	37	chr1	3413868	3413868	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgtggtggcaggcagcgCcaggcgggcagctgcagcgc	19	12	0	1	rs4648506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:3413868C>G	ENST00000356575.4	-	27	3636	c.3410G>C	c.(3409-3411)gGc>gCc	p.G1137A	MEGF6_ENST00000294599.4_Missense_Mutation_p.G946A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1137	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> A (in dbSNP:rs4648506). {ECO:0000269|PubMed:9693030}.			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)		GCAGGCAGCGCCAGGCGGGCA	0.716													C|||	1222	0.24401	0.146	0.3357	5008	,	,		12528	0.1865		0.3201	False		,,,				2504	0.2924				p.G1137A	Ovarian(73;978 3658)	Atlas-SNP	.											.	MEGF6	91	.	0			c.G3410C						PASS	.	C	ALA/GLY	547,3569		48,451,1559	8	13	11		3410	0.1	0	1	dbSNP_111	11	2204,6092		339,1526,2283	no	missense	MEGF6	NM_001409.3	60	387,1977,3842	GG,GC,CC		26.567,13.2896,22.164	possibly-damaging	1137/1542	3413868	2751,9661	2058	4148	6206	SO:0001583	missense	1953	exon27			GCAGCGCCAGGCG	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.3410G>C	1.37:g.3413868C>G	ENSP00000348982:p.Gly1137Ala	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	14	12	0.857143	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	532	0.24358974358974358	83	0.16869918699186992	101	0.27900552486187846	130	0.22727272727272727	218	0.287598944591029	C	12.32	1.903437	0.33628	0.132896	0.26567	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.71934	-0.09;-0.61	4.36	0.0897	0.14460	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.182174	0.48286	N	0.000200	T	0.00012	0.0000	M	0.91663	3.23	0.40306	P	0.021338999999999997	P;P	0.51147	0.942;0.929	P;P	0.62435	0.902;0.841	T	0.05022	-1.0911	9	0.62326	D	0.03	-7.763	6.2955	0.21083	0.0:0.6314:0.1331:0.2355	rs4648506	1137;946	O75095;O75095-2	MEGF6_HUMAN;.	A	946;1137	ENSP00000294599:G946A;ENSP00000348982:G1137A	ENSP00000294599:G946A	G	-	2	0	MEGF6	3403728	0.002000	0.14202	0.000000	0.03702	0.135000	0.20990	0.253000	0.18296	-0.064000	0.13043	0.561000	0.74099	GGC	C|0.736;G|0.264	0.264	strong		0.716	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3413868	C	G	3413868	3	3	23	1	0	0	0	0	1	0	0	0	9462	739	26	4	1259	4	MEGF6	1	3413868	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	474879	3413868	245836753	15	16471										
WDR8	49856	hgsc.bcm.edu	37	chr1	3551792	3551792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccacagacttgatgcccaGggaccactcgtaagcgctgt	12	13	0	2	rs2296034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:3551792G>A	ENST00000270708.7	-	7	743	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	WRAP73_ENST00000378322.3_Silent_p.L224L	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	224						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TTGATGCCCAGGGACCACTCG	0.522													G|||	394	0.0786741	0.0045	0.0634	5008	,	,		18738	0.1915		0.0388	False		,,,				2504	0.1145				p.L224L		Atlas-SNP	.											.	WRAP73	43	.	0			c.C670T						PASS	.	G		41,4365	43.1+/-76.7	0,41,2162	77	77	77		670	4.7	1	1	dbSNP_100	77	365,8235	121.5+/-180.6	13,339,3948	no	coding-synonymous	WRAP73	NM_017818.3		13,380,6110	AA,AG,GG		4.2442,0.9305,3.1216		224/461	3551792	406,12600	2203	4300	6503	SO:0001819	synonymous_variant	49856	exon7			TGCCCAGGGACCA	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.670C>T	1.37:g.3551792G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	110	69	0.627273	NM_017818	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																			G|0.949;A|0.051	0.051	strong		0.522	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3551792	G	A	3551792	2	1	23	1	0	0	0	0	0	0	0	1	17326	991	35	2		2	WDR8	1	3551792	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	137924	3551792	245698829	16	16472										
WDR8	49856	hgsc.bcm.edu	37	chr1	3551828	3551828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtacgtggacaacaaccGgccatccaatgagtacagca	10	12	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:3551828G>A	ENST00000270708.7	-	7	707	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	WRAP73_ENST00000378322.3_Missense_Mutation_p.R212W	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	212						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GACAACAACCGGCCATCCAAT	0.542																																					p.R212W		Atlas-SNP	.											WRAP73,NS,carcinoma,+1,1	WRAP73	43	1	0			c.C634T						PASS	.						80	80	80					1																	3551828		2203	4300	6503	SO:0001583	missense	49856	exon7			ACAACCGGCCATC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.634C>T	1.37:g.3551828G>A	ENSP00000270708:p.Arg212Trp	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	118	48	0.40678	NM_017818	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168380	0.57584	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000419924	T;T	0.49139	3.34;0.79	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83414	0.0029	10	0.87932	D	0	-63.099	15.1585	0.72761	0.0:0.0:0.8584:0.1416	.	212	Q9P2S5	WRP73_HUMAN	W	212;212;183	ENSP00000270708:R212W;ENSP00000367573:R212W	ENSP00000270708:R212W	R	-	1	2	WRAP73	3541688	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.938000	0.70170	2.652000	0.90054	0.655000	0.94253	CGG	.	.	none		0.542	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3551828	G	A	3551828	3	1	23	1	0	0	0	0	1	0	0	0	17326	1115	39	1	772	1	WDR8	1	3551828	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36	3551828	245698793	17	16473										
SLC45A1	50651	hgsc.bcm.edu	37	chr1	8395560	8395560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgggctccagcgagcgcGcggagcagcctctgtccgtg	16	14	1	1	rs7535752	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:8395560G>T	ENST00000471889.1	+	6	1892	c.1507G>T	c.(1507-1509)Gcg>Tcg	p.A503S	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A537S|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A503S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	503					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGAGCGCGCGGAGCAGCC	0.647													G|||	773	0.154353	0.0961	0.1859	5008	,	,		16601	0.0228		0.1839	False		,,,				2504	0.316				p.A503S		Atlas-SNP	.											.	SLC45A1	85	.	0			c.G1507T						PASS	.	G	SER/ALA	462,3944	219.1+/-236.9	21,420,1762	55	63	60		1507	-10.2	0	1	dbSNP_116	60	1644,6956	302.1+/-305.8	157,1330,2813	yes	missense	SLC45A1	NM_001080397.1	99	178,1750,4575	TT,TG,GG		19.1163,10.4857,16.1925	benign	503/749	8395560	2106,10900	2203	4300	6503	SO:0001583	missense	50651	exon5			GAGCGCGCGGAGC	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1507G>T	1.37:g.8395560G>T	ENSP00000418096:p.Ala503Ser	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	37	28	0.756757	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	240	0.10989010989010989	40	0.08130081300813008	72	0.19889502762430938	3	0.005244755244755245	125	0.16490765171503957	G	0.061	-1.223735	0.01530	0.104857	0.191163	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.78246	-1.16;-1.16;-1.16	5.09	-10.2	0.00374	.	0.826256	0.11218	N	0.587016	T	0.00039	0.0001	N	0.00996	-1.065	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	0.08599	T	0.76	-2.1771	13.6969	0.62585	0.0:0.1439:0.1103:0.7457	rs7535752;rs57840924;rs7535752	503	Q9Y2W3	S45A1_HUMAN	S	503;537;503	ENSP00000418096:A503S;ENSP00000366699:A537S;ENSP00000289877:A503S	ENSP00000289877:A503S	A	+	1	0	SLC45A1	8318147	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.306000	0.08178	-1.967000	0.01008	0.561000	0.74099	GCG	G|0.849;T|0.151	0.151	strong		0.647	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8395560	G	T	8395560	3	4	23	1	0	0	0	0	1	0	0	0	14640	1087	38	4	1525	4	SLC45A1	1	8395560	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4843732	8395560	240855061	18	16474										
RERE	473	hgsc.bcm.edu	37	chr1	8425900	8425900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggacgggggtctggagggTgtgttgacgggtgtggacgc	22	6	1	1	rs3753275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:8425900T>C	ENST00000337907.3	-	14	2053	c.1419A>G	c.(1417-1419)acA>acG	p.T473T	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Silent_p.T473T|RERE_ENST00000377464.1_Silent_p.T205T|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400908.2_Silent_p.T473T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	473					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCTGGAGGGTGTGTTGACGG	0.642													T|||	1243	0.248203	0.413	0.1945	5008	,	,		16536	0.0575		0.1978	False		,,,				2504	0.3119				p.T473T		Atlas-SNP	.											.	RERE	129	.	0			c.A1419G						PASS	.	T	,,	1601,2805	496.7+/-363.6	285,1031,887	90	94	93		1419,,1419	-5.1	1	1	dbSNP_107	93	1644,6956	303.8+/-306.6	157,1330,2813	no	coding-synonymous,utr-5,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	442,2361,3700	CC,CT,TT		19.1163,36.3368,24.95	,,	473/1567,,473/1567	8425900	3245,9761	2203	4300	6503	SO:0001819	synonymous_variant	473	exon14			GGAGGGTGTGTTG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1419A>G	1.37:g.8425900T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	68	53	0.779412	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																			T|0.771;C|0.229	0.229	strong		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			C	8425900	T	C	8425900	2	2	23	1	0	0	0	0	0	0	0	1	13231	1683	59	2		2	RERE	1	8425900	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30340	8425900	240824721	19	16475										
H6PD	9563	hgsc.bcm.edu	37	chr1	9323910	9323910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacgcctacagccctgtgcGggagcgggacgcccactccg	13	17	0	0	rs6688832	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:9323910G>A	ENST00000377403.2	+	5	1660	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R464Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	453	Glucose 1-dehydrogenase.		R -> Q (in CRD; less than 50% of activity than wild-type; dbSNP:rs6688832). {ECO:0000269|PubMed:12858176, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTGTGCGGGAGCGGGAC	0.597													A|||	1951	0.389577	0.4932	0.3732	5008	,	,		18364	0.4812		0.2485	False		,,,				2504	0.3119				p.R453Q		Atlas-SNP	.											.	H6PD	71	.	0			c.G1358A	GRCh37	CM031993	H6PD	M	rs6688832	PASS	.	A	GLN/ARG	2017,2389	611.7+/-391.8	456,1105,642	64	74	71	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1358	-2.1	0.1	1	dbSNP_116	71	1971,6629	723.0+/-406.4	223,1525,2552	yes	missense	H6PD	NM_004285.3	43	679,2630,3194	AA,AG,GG		22.9186,45.7785,30.6628	benign	453/792	9323910	3988,9018	2203	4300	6503	SO:0001583	missense	9563	exon5			CTGTGCGGGAGCG	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1358G>A	1.37:g.9323910G>A	ENSP00000366620:p.Arg453Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_004285	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	CCDS101.1	795	0.364010989010989	225	0.4573170731707317	123	0.3397790055248619	260	0.45454545454545453	187	0.24670184696569922	A	0.078	-1.188930	0.01607	0.457785	0.229186	ENSG00000049239	ENST00000377403	D	0.98264	-4.83	5.53	-2.12	0.07165	.	0.705587	0.14737	N	0.301437	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.32824	-0.9892	9	0.17832	T	0.49	-13.5512	4.5195	0.11952	0.3753:0.0952:0.4337:0.0958	rs6688832;rs17286908;rs52797480;rs58250722;rs6688832	453	O95479	G6PE_HUMAN	Q	453	ENSP00000366620:R453Q	ENSP00000366620:R453Q	R	+	2	0	H6PD	9246497	0.001000	0.12720	0.054000	0.19295	0.017000	0.09413	-0.091000	0.11146	-0.530000	0.06349	-1.197000	0.01672	CGG	G|0.662;A|0.338	0.338	strong		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		A	9323910	G	A	9323910	3	1	23	1	0	0	0	0	1	0	0	0	6936	1116	39	1	1372	1	H6PD	1	9323910	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	898010	9323910	239926711	20	16476										
SPSB1	80176	hgsc.bcm.edu	37	chr1	9416346	9416346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgtcgggtacacaaccctCgtggggaataaccacgagtc	11	12	1	0	rs3795309	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:9416346C>T	ENST00000328089.6	+	2	737	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SPSB1_ENST00000377399.2_Silent_p.L132L|SPSB1_ENST00000357898.3_Silent_p.L132L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAACCCTCGTGGGGAATA	0.637													C|||	987	0.197085	0.0651	0.1758	5008	,	,		16950	0.2798		0.3161	False		,,,				2504	0.183				p.L132L		Atlas-SNP	.											.	SPSB1	22	.	0			c.C396T						PASS	.	C		426,3980	202.8+/-225.5	28,370,1805	44	44	44		396	-5.8	0.9	1	dbSNP_107	44	2571,6029	411.1+/-350.4	378,1815,2107	no	coding-synonymous	SPSB1	NM_025106.3		406,2185,3912	TT,TC,CC		29.8953,9.6686,23.0432		132/274	9416346	2997,10009	2203	4300	6503	SO:0001819	synonymous_variant	80176	exon2			AACCCTCGTGGGG		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.396C>T	1.37:g.9416346C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	39	28	0.717949	NM_025106	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	CCDS102.1																																																																																			C|0.763;T|0.237	0.237	strong		0.637	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		T	9416346	C	T	9416346	2	4	23	1	0	0	0	0	0	0	0	1	15111	871	31	1		1	SPSB1	1	9416346	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92436	9416346	239834275	21	16477										
CASZ1	54897	hgsc.bcm.edu	37	chr1	10713765	10713765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggccagggccagggggatTgagccaggcaggccctgggg	21	10	0	1	rs284294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:10713765T>C	ENST00000377022.3	-	11	2666	c.2349A>G	c.(2347-2349)tcA>tcG	p.S783S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.S783S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	783					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGGGGATTGAGCCAGGCA	0.711													C|||	2730	0.545128	0.7194	0.4539	5008	,	,		16126	0.3095		0.5646	False		,,,				2504	0.5971				p.S783S		Atlas-SNP	.											CASZ1,colon,carcinoma,0,1	CASZ1	150	1	0			c.A2349G						PASS	.	C	,	2890,1470		976,938,266	25	33	30		2349,2349	3	0.9	1	dbSNP_79	30	4701,3873		1298,2105,884	no	coding-synonymous,coding-synonymous	CASZ1	NM_001079843.1,NM_017766.3	,	2274,3043,1150	CC,CT,TT		45.1714,33.7156,41.3097	,	783/1760,783/1167	10713765	7591,5343	2180	4287	6467	SO:0001819	synonymous_variant	54897	exon11			GGGGATTGAGCCA	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2349A>G	1.37:g.10713765T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	19	17	0.894737	NM_001079843	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																			T|0.453;C|0.547	0.547	strong		0.711	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		C	10713765	T	C	10713765	2	2	23	1	0	0	0	0	0	0	0	1	2685	1799	63	2		2	CASZ1	1	10713765	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1297419	10713765	238536856	22	16478										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11008695	11008695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgggtgcgttggcaagacTggacgtggccgccagggact	18	11	0	1	rs17036032	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:11008695T>C	ENST00000377008.4	-	11	1442	c.996A>G	c.(994-996)ccA>ccG	p.P332P	C1orf127_ENST00000377004.4_Silent_p.P499P			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	332	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTGGCAAGACTGGACGTGGCC	0.667													T|||	1061	0.211861	0.0522	0.2565	5008	,	,		16937	0.2321		0.1421	False		,,,				2504	0.4468				p.P499P		Atlas-SNP	.											.	C1orf127	134	.	0			c.A1497G						PASS	.	T		272,4134	151.4+/-185.3	5,262,1936	51	51	51		1497	-5.4	0	1	dbSNP_123	51	1164,7436	235.8+/-268.3	88,988,3224	no	coding-synonymous	C1orf127	NM_001170754.1		93,1250,5160	CC,CT,TT		13.5349,6.1734,11.0411		499/824	11008695	1436,11570	2203	4300	6503	SO:0001819	synonymous_variant	148345	exon12			CAAGACTGGACGT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.996A>G	1.37:g.11008695T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	46	32	0.695652	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		377	0.17261904761904762	33	0.06707317073170732	88	0.2430939226519337	142	0.24825174825174826	114	0.1503957783641161	T	6.065	0.380333	0.11466	0.061734	0.135349	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	4.51	-5.45	0.02616	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.49687	P	1.8899999999999473E-4	.	.	.	.	.	.	T	0.41034	-0.9531	3	.	.	.	-0.7605	0.2364	0.00186	0.2766:0.1805:0.2818:0.2611	rs17036032;rs17036032	.	.	.	R	334;451	.	.	Q	-	2	0	C1orf127	10931282	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.740000	0.01839	-0.824000	0.04295	0.402000	0.26972	CAG	T|0.858;C|0.142	0.142	strong		0.667	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		C	11008695	T	C	11008695	2	2	23	1	0	0	0	0	0	0	0	1	1994	1567	55	3		3	C1orf127	1	11008695	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	294930	11008695	238241926	23	16479										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11014118	11014118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgtccagaggaccggggCagccatctcggcaaattcca	11	14	1	1	rs45537241	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:11014118C>T	ENST00000377008.4	-	9	1002	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	C1orf127_ENST00000377004.4_Missense_Mutation_p.A353T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	186										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGGACCGGGGCAGCCATCTCG	0.567													C|||	1099	0.219449	0.0666	0.2752	5008	,	,		19057	0.2331		0.164	False		,,,				2504	0.4294				p.A353T		Atlas-SNP	.											.	C1orf127	134	.	0			c.G1057A						PASS	.	C	THR/ALA	334,4072	176.2+/-205.4	10,314,1879	127	127	127		1057	-9.4	0	1	dbSNP_127	127	1301,7299	258.1+/-281.9	109,1083,3108	yes	missense	C1orf127	NM_001170754.1	58	119,1397,4987	TT,TC,CC		15.1279,7.5806,12.5711	possibly-damaging	353/824	11014118	1635,11371	2203	4300	6503	SO:0001583	missense	148345	exon10			CCGGGGCAGCCAT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.556G>A	1.37:g.11014118C>T	ENSP00000366207:p.Ala186Thr	Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	150	105	0.7	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		404	0.184981684981685	37	0.07520325203252033	95	0.26243093922651933	140	0.24475524475524477	132	0.1741424802110818	C	10.67	1.414656	0.25465	0.075806	0.151279	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.23950	1.88;1.88	5.07	-9.42	0.00610	.	1.465320	0.04235	N	0.335928	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.14023	0.007;0.007;0.01	T	0.26360	-1.0105	9	0.20519	T	0.43	-0.8287	0.8276	0.01124	0.2794:0.1313:0.1779:0.4113	rs45537241	204;204;186	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	T	353;186	ENSP00000366203:A353T;ENSP00000366207:A186T	ENSP00000366203:A353T	A	-	1	0	C1orf127	10936705	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-1.475000	0.02335	-2.102000	0.00845	-0.345000	0.07892	GCC	C|0.852;T|0.148	0.148	strong		0.567	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		T	11014118	C	T	11014118	3	4	23	1	0	0	0	0	1	0	0	0	1994	710	25	2	1426	2	C1orf127	1	11014118	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5423	11014118	238236503	24	16480										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11015165	11015165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaggctcagggtttcctcaAtgtaggaacctcttttgact	10	9	3	2	rs75130475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:11015165A>G	ENST00000377008.4	-	8	802	c.356T>C	c.(355-357)aTt>aCt	p.I119T	C1orf127_ENST00000377004.4_Missense_Mutation_p.I286T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	119										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGTTTCCTCAATGTAGGAACC	0.522													A|||	1143	0.228235	0.0991	0.2752	5008	,	,		20517	0.2341		0.164	False		,,,				2504	0.4294				p.I286T		Atlas-SNP	.											.	C1orf127	134	.	0			c.T857C						PASS	.	A	THR/ILE	441,3965	212.8+/-232.6	18,405,1780	130	121	124		857	-6	0	1	dbSNP_131	124	1305,7295	258.7+/-282.2	109,1087,3104	yes	missense	C1orf127	NM_001170754.1	89	127,1492,4884	GG,GA,AA		15.1744,10.0091,13.4246	possibly-damaging	286/824	11015165	1746,11260	2203	4300	6503	SO:0001583	missense	148345	exon9			TCCTCAATGTAGG	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.356T>C	1.37:g.11015165A>G	ENSP00000366207:p.Ile119Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	55	43	0.781818	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		415	0.190018315018315	47	0.09552845528455285	95	0.26243093922651933	141	0.2465034965034965	132	0.1741424802110818	A	10.67	1.416568	0.25552	0.100091	0.151744	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.23754	1.89;1.89	4.94	-6.01	0.02199	.	2.410650	0.01815	N	0.033671	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B	0.33103	0.278;0.278;0.397	B;B;B	0.28139	0.086;0.086;0.086	T	0.28170	-1.0052	9	0.13470	T	0.59	2.0094	1.0442	0.01566	0.2004:0.2288:0.3268:0.2439	.	137;137;119	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	T	286;119	ENSP00000366203:I286T;ENSP00000366207:I119T	ENSP00000366203:I286T	I	-	2	0	C1orf127	10937752	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.247000	0.02893	-0.647000	0.05444	-0.361000	0.07541	ATT	A|0.843;G|0.157	0.157	strong		0.522	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		G	11015165	A	G	11015165	3	3	23	1	0	0	0	0	1	0	0	0	1994	101	4	2	1630	2	C1orf127	1	11015165	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1047	11015165	238235456	25	16481										
C1orf127	148345	hgsc.bcm.edu	37	chr1	11017141	11017141	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaccagccatagtggcagGagctcagcagaggtgttcag	13	11	3	1	rs75810903	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:11017141G>A	ENST00000377008.4	-	7	724				C1orf127_ENST00000377004.4_Silent_p.L239L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATAGTGGCAGGAGCTCAGCAG	0.602													G|||	16	0.00319489	0.0008	0.0014	5008	,	,		15143	0.002		0.0099	False		,,,				2504	0.002				p.L239L		Atlas-SNP	.											.	C1orf127	134	.	0			c.C717T						PASS	.	G		3,1381		0,3,689	33	41	38		717	-4.9	0	1	dbSNP_132	38	36,3146		0,36,1555	yes	coding-synonymous	C1orf127	NM_001170754.1		0,39,2244	AA,AG,GG		1.1314,0.2168,0.8541		239/824	11017141	39,4527	692	1591	2283	SO:0001627	intron_variant	148345	exon8			TGGCAGGAGCTCA	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.277+500C>T	1.37:g.11017141G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	52	29	0.557692	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		8	0.003663003663003663	0	0.0	0	0.0	1	0.0017482517482517483	7	0.009234828496042216	G	3.484	-0.105372	0.06967	0.002168	0.011314	ENSG00000175262	ENST00000520253	.	.	.	5.39	-4.9	0.03094	.	.	.	.	.	T	0.19208	0.0461	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.32025	-0.9922	4	.	.	.	.	6.7834	0.23659	0.1109:0.62:0.1446:0.1245	.	.	.	.	F	217	.	.	S	-	2	0	C1orf127	10939728	0.067000	0.21026	0.024000	0.17045	0.510000	0.34073	-0.085000	0.11250	-0.691000	0.05135	0.561000	0.74099	TCC	G|0.996;A|0.004	0.004	strong		0.602	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		A	11017141	G	A	11017141	1	1	23	0	1	0	0	0	0	0	0	0	1994	1161	41	2		2	C1orf127	1	11017141	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1976	11017141	238233480	26	16482										
MTHFR	4524	hgsc.bcm.edu	37	chr1	11855269	11855269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactggccagaagctcctggCacaggctcacggccagctcg	12	16	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:11855269C>T	ENST00000376592.1	-	5	1045	c.917G>A	c.(916-918)tGc>tAc	p.C306Y	MTHFR_ENST00000376585.1_Missense_Mutation_p.C347Y|MTHFR_ENST00000376590.3_Missense_Mutation_p.C306Y|MTHFR_ENST00000376583.3_Missense_Mutation_p.C347Y			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	306					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AAGCTCCTGGCACAGGCTCAC	0.592																																					p.C306Y		Atlas-SNP	.											.	MTHFR	65	.	0			c.G917A						PASS	.						80	80	80					1																	11855269		2203	4300	6503	SO:0001583	missense	4524	exon6			TCCTGGCACAGGC	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.917G>A	1.37:g.11855269C>T	ENSP00000365777:p.Cys306Tyr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	66	10	0.151515	NM_005957	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600241	0.87055	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.09	5.09	0.68999	.	0.084158	0.85682	D	0.000000	D	0.97359	0.9136	H	0.96239	3.79	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.963	D	0.98609	1.0662	10	0.87932	D	0	.	17.8468	0.88732	0.0:1.0:0.0:0.0	.	306;347	P42898;Q5SNW6	MTHR_HUMAN;.	Y	306;347;306;347	ENSP00000365777:C306Y;ENSP00000365767:C347Y;ENSP00000365775:C306Y;ENSP00000365770:C347Y	ENSP00000365767:C347Y	C	-	2	0	MTHFR	11777856	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.085000	0.76875	2.517000	0.84864	0.462000	0.41574	TGC	.	.	none		0.592	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		T	11855269	C	T	11855269	3	4	23	1	0	0	0	0	1	0	0	0	9931	710	25	2	1081	2	MTHFR	1	11855269	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	838128	11855269	237395352	27	16483										
TNFRSF1B	7133	hgsc.bcm.edu	37	chr1	12248942	12248942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcagatgtgctgcagcaaAtgctcgccgggtgagggcag	16	10	1	2	rs945439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:12248942A>G	ENST00000376259.3	+	2	257	c.168A>G	c.(166-168)aaA>aaG	p.K56K	TNFRSF1B_ENST00000492361.1_Intron|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000536782.1_Silent_p.K56K	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	56					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCTGCAGCAAATGCTCGCCGG	0.632													G|||	998	0.199281	0.2012	0.134	5008	,	,		18420	0.1548		0.2147	False		,,,				2504	0.273				p.K56K		Atlas-SNP	.											.	TNFRSF1B	28	.	0			c.A168G						PASS	.	G		976,3430	729.2+/-410.0	109,758,1336	38	41	40		168	2.5	0	1	dbSNP_86	40	2082,6518	714.2+/-406.0	274,1534,2492	no	coding-synonymous	TNFRSF1B	NM_001066.2		383,2292,3828	GG,GA,AA		24.2093,22.1516,23.5122		56/462	12248942	3058,9948	2203	4300	6503	SO:0001819	synonymous_variant	7133	exon2			CAGCAAATGCTCG	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.168A>G	1.37:g.12248942A>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	31	11	0.354839	NM_001066	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	CCDS145.1																																																																																			A|0.787;G|0.213	0.213	strong		0.632	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		G	12248942	A	G	12248942	2	3	23	1	0	0	0	0	0	0	0	1	16291	98	4	2		2	TNFRSF1B	1	12248942	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	393673	12248942	237001679	28	16484										
TNFRSF1B	7133	hgsc.bcm.edu	37	chr1	12252955	12252955	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catccctgggaatgcaagcaTggatgcagtctgcacgtcca	11	12	1	0	rs1061622	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:12252955T>G	ENST00000376259.3	+	6	676	c.587T>G	c.(586-588)aTg>aGg	p.M196R	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	196			M -> R (frequent polymorphism; seems to be associated with hyperandrogenism, polycystic ovary syndrome (PCOS) and systemic lupus erythematosus; dbSNP:rs1061622). {ECO:0000269|PubMed:11197692, ECO:0000269|PubMed:11762942, ECO:0000269|PubMed:12161545, ECO:0000269|PubMed:2166946, ECO:0000269|PubMed:2172983, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.M196R(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	AATGCAAGCATGGATGCAGTC	0.637													T|||	975	0.194688	0.1868	0.1268	5008	,	,		15660	0.1498		0.2177	False		,,,				2504	0.2761				p.M196R		Atlas-SNP	.											TNFRSF1B,NS,carcinoma,0,1	TNFRSF1B	28	1	1	Substitution - Missense(1)	stomach(1)	c.T587G	GRCh37	CM022071	TNFRSF1B	M	rs1061622	scavenged	.	T	ARG/MET	929,3477	349.8+/-310.5	94,741,1368	134	100	112		587	-4.1	0	1	dbSNP_86	112	2069,6531	355.3+/-329.8	275,1519,2506	yes	missense	TNFRSF1B	NM_001066.2	91	369,2260,3874	GG,GT,TT		24.0581,21.0849,23.0509	benign	196/462	12252955	2998,10008	2203	4300	6503	SO:0001583	missense	7133	exon6			CAAGCATGGATGC	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.587T>G	1.37:g.12252955T>G	ENSP00000365435:p.Met196Arg	Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	44	12	0.272727	NM_001066	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	CCDS145.1	430	0.19688644688644688	104	0.21138211382113822	56	0.15469613259668508	95	0.1660839160839161	175	0.23087071240105542	T	10.29	1.310596	0.23821	0.210849	0.240581	ENSG00000028137	ENST00000376259;ENST00000400863	T	0.60548	0.18	4.15	-4.13	0.03904	TNFR/CD27/30/40/95 cysteine-rich region (1);	1.471100	0.03493	N	0.216872	T	0.00012	0.0000	N	0.13198	0.31	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.07947	-1.0746	9	0.38643	T	0.18	-9.0951	7.0833	0.25244	0.0:0.5369:0.1669:0.2962	rs1061622;rs1681698;rs2228492;rs13306722;rs17037789;rs17883437;rs52797629;rs60195947;rs1061622	196	P20333	TNR1B_HUMAN	R	196	ENSP00000365435:M196R	ENSP00000365435:M196R	M	+	2	0	TNFRSF1B	12175542	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-1.738000	0.01842	-0.694000	0.05113	0.482000	0.46254	ATG	T|0.792;G|0.208	0.208	strong		0.637	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		G	12252955	T	G	12252955	3	3	23	1	0	0	0	0	1	0	0	0	16291	1464	51	5	609	5	TNFRSF1B	1	12252955	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4013	12252955	236997666	29	16485										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855647	12855647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctacctattggaagaagaCatgaagtgtctctcccagta	10	9	1	3	rs200536957		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:12855647C>T	ENST00000332296.7	+	4	1030	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PRAMEF1_ENST00000400814.3_Silent_p.D64D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAAGACATGAAGTGTC	0.498																																					p.D309D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,+2,2	PRAMEF1	78	2	0			c.C927T						scavenged	.						43	48	46					1																	12855647		2197	4275	6472	SO:0001819	synonymous_variant	65121	exon4			AGAAGACATGAAG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.927C>T	1.37:g.12855647C>T		Somatic	442	29	0.0656109		WXS	Illumina HiSeq	Phase_I	234	26	0.111111	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			C|0.999;T|0.001	0.001	weak		0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855647	C	T	12855647	2	4	23	1	0	0	0	0	0	0	0	1	12425	477	17	2		2	PRAMEF1	1	12855647	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	602692	12855647	236394974	30	16486										
PRAMEF11	440560	hgsc.bcm.edu	37	chr1	12888397	12888397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcagtgcatcaagcccatCgagcacagcttggaaggcct	11	12	1	0	rs202156326	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:12888397C>T	ENST00000535591.1	-	2	322	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	43					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D43N(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCAAGCCCATCGAGCACAGCT	0.627													.|||	63	0.0125799	0.0454	0.0043	5008	,	,		16628	0.0		0.0	False		,,,				2504	0.0				p.D43N		Atlas-SNP	.											PRAMEF11,NS,other,0,1	PRAMEF11	72	1	1	Substitution - Missense(1)	pancreas(1)	c.G127A						scavenged	.																																			SO:0001583	missense	440560	exon2			GCCCATCGAGCAC	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.127G>A	1.37:g.12888397C>T	ENSP00000439551:p.Asp43Asn	Somatic	505	102	0.20198		WXS	Illumina HiSeq	Phase_I	351	79	0.225071	NM_001146344		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.143414	0.37825	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05996	3.36;3.36	1.45	1.45	0.22620	.	0.744226	0.12606	N	0.454302	T	0.10766	0.0263	M	0.77712	2.385	0.09310	N	1	D	0.53745	0.962	P	0.44921	0.464	T	0.18366	-1.0339	10	0.87932	D	0	.	6.4008	0.21638	0.0:1.0:0.0:0.0	.	43	O60813	PRA11_HUMAN	N	43;84;43	ENSP00000439551:D43N;ENSP00000391839:D43N	ENSP00000328783:D84N	D	-	1	0	PRAMEF11	12810984	0.004000	0.15560	0.007000	0.13788	0.013000	0.08279	0.287000	0.18920	1.122000	0.41944	0.380000	0.24917	GAT	C|0.250;T|0.750	0.750	weak		0.627	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		T	12888397	C	T	12888397	3	4	23	1	0	0	0	0	1	0	0	0	12427	884	31	1	1195	1	PRAMEF11	1	12888397	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	32750	12888397	236362224	31	16487										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907275	12907275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtgcttaagagtcatcctGgccattggtgctgtctctgt	11	9	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:12907275G>C	ENST00000317869.6	-	2	1093	c.868C>G	c.(868-870)Cag>Gag	p.Q290E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	290						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAGTCATCCTGGCCATTGGTG	0.443																																					p.Q290E		Atlas-SNP	.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	1	0			c.C868G						scavenged	.						125	135	132					1																	12907275		2203	4299	6502	SO:0001583	missense	343069	exon2			CATCCTGGCCATT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.868C>G	1.37:g.12907275G>C	ENSP00000365370:p.Gln290Glu	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	144	2	0.0138889	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.135616	0.00001	.	.	ENSG00000179172	ENST00000317869	T	0.07216	3.21	1.09	-2.18	0.07037	.	0.420350	0.20880	N	0.084017	T	0.01353	0.0044	N	0.00583	-1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	.	2.6632	0.05032	0.0:0.3331:0.2756:0.3913	.	290	O60812	HNRCL_HUMAN	E	290	ENSP00000365370:Q290E	ENSP00000365370:Q290E	Q	-	1	0	HNRNPCL1	12829862	0.994000	0.37717	0.016000	0.15963	0.063000	0.16089	-0.019000	0.12546	-1.068000	0.03156	-0.786000	0.03341	CAG	.	.	none		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907275	G	C	12907275	3	2	23	1	0	0	0	0	1	0	0	0	7263	1357	47	4	15	4	HNRNPCL1	1	12907275	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18878	12907275	236343346	32	16488										
PRDM2	7799	hgsc.bcm.edu	37	chr1	14105139	14105139	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgaagaagaagaagaagaTgatgatgatgatgagttgga	15	0	0	11	rs2076324|rs369010172	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:14105139T>A	ENST00000235372.7	+	8	1705	c.849T>A	c.(847-849)gaT>gaA	p.D283E	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D283E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.D82E|PRDM2_ENST00000343137.4_Missense_Mutation_p.D82E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	283	Asp/Glu-rich (acidic).		D -> E (in dbSNP:rs2076324).	EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aagaagaagatgatgatgatg	0.483													A|||	1859	0.371206	0.208	0.5375	5008	,	,		20316	0.3988		0.327	False		,,,				2504	0.4908				p.D283E		Atlas-SNP	.											.	PRDM2	147	.	0			c.T849A						PASS	.	A	GLU/ASP,,GLU/ASP,GLU/ASP	1104,3302	717.2+/-408.7	142,820,1241	63	64	63		246,,849,849	-3.6	0.5	1	dbSNP_96	63	3066,5534	652.7+/-401.0	525,2016,1759	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	45,,45,45	667,2836,3000	AA,AT,TT		35.6512,25.0567,32.0621	benign,,benign,benign	82/1482,,283/1719,283/1683	14105139	4170,8836	2203	4300	6503	SO:0001583	missense	7799	exon8			AGAAGATGATGAT	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.849T>A	1.37:g.14105139T>A	ENSP00000235372:p.Asp283Glu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	57	13	0.22807	NM_015866	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	771	0.35302197802197804	99	0.20121951219512196	186	0.5138121546961326	243	0.42482517482517484	243	0.32058047493403696	A	0.003	-2.513786	0.00151	0.250567	0.356512	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01446	4.98;4.88;4.91;4.91	2.02	-3.62	0.04543	.	0.430301	0.17431	N	0.174473	T	0.00012	0.0000	N	0.00742	-1.23	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.12013	0.003;0.0;0.003;0.005	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.11743	-1.0575	9	0.02654	T	1	.	3.3022	0.06987	0.2462:0.0:0.158:0.5958	rs62648362	283;141;283;283	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	E	283;283;283;82;82	ENSP00000235372:D283E;ENSP00000312352:D283E;ENSP00000411103:D82E;ENSP00000341621:D82E	ENSP00000235372:D283E	D	+	3	2	PRDM2	13977726	0.931000	0.31567	0.455000	0.27031	0.122000	0.20287	-0.258000	0.08733	-1.465000	0.01899	-0.376000	0.06991	GAT	T|0.662;A|0.338	0.338	strong		0.483	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14105139	T	A	14105139	3	1	23	1	0	0	0	0	1	0	0	0	12458	1461	51	5	875	5	PRDM2	1	14105139	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1197864	14105139	235145482	33	16489										
PRDM2	7799	hgsc.bcm.edu	37	chr1	14109114	14109114	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctttccagcaaaacatcAcggagcctgcacgtgagggt	11	12	1	1	rs1203651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:14109114A>G	ENST00000235372.7	+	8	5680	c.4824A>G	c.(4822-4824)tcA>tcG	p.S1608S	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S1608S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1407S|PRDM2_ENST00000343137.4_Silent_p.S1407S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAAAACATCACGGAGCCTGC	0.433													G|||	1828	0.365016	0.2322	0.5418	5008	,	,		20761	0.3988		0.328	False		,,,				2504	0.4223				p.S1608S		Atlas-SNP	.											.	PRDM2	147	.	0			c.A4824G						PASS	.	G	,,,	1163,3243	713.4+/-408.2	156,851,1196	73	74	73		4221,,4824,4824	0.7	0	1	dbSNP_87	73	3140,5460	656.3+/-401.3	533,2074,1693	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	,,,	689,2925,2889	GG,GA,AA		36.5116,26.3958,33.0847	,,,	1407/1482,,1608/1719,1608/1683	14109114	4303,8703	2203	4300	6503	SO:0001819	synonymous_variant	7799	exon8			AACATCACGGAGC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4824A>G	1.37:g.14109114A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	49	17	0.346939	NM_015866	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																			A|0.657;G|0.343	0.343	strong		0.433	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		G	14109114	A	G	14109114	2	3	23	1	0	0	0	0	0	0	0	1	12458	146	6	2		2	PRDM2	1	14109114	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3975	14109114	235141507	34	16490										
CTRC	11330	hgsc.bcm.edu	37	chr1	15772212	15772212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagccggtagtctacaccCgggtgtccgcctacatcgac	11	14	1	1	rs121909293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15772212C>T	ENST00000375949.4	+	7	786	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		Missing (in PCTT; associated with disease susceptibility; results in reduced protein secretion and loss of activity). {ECO:0000269|PubMed:18172691}.|R -> Q (found in a patient with chronic pancreatitis; unknown pathological significance; mutant protein secretion, activity and trypsin-mediated degradation are comparable to those of wild-type). {ECO:0000269|PubMed:19407484}.|R -> W (in PCTT; associated with susceptibility to disease; results in reduced secretion; normal activity; the mutant undergoes proteolytic degradation during trypsin-mediated activation; dbSNP:rs121909293). {ECO:0000269|PubMed:18059268, ECO:0000269|PubMed:18172691, ECO:0000269|PubMed:22580415, ECO:0000269|PubMed:23135764}.		proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCTACACCCGGGTGTCCGC	0.632													C|||	8	0.00159744	0.0	0.0	5008	,	,		15935	0.0		0.008	False		,,,				2504	0.0				p.R254W		Atlas-SNP	.											.	CTRC	28	.	0			c.C760T	GRCh37	CM080169	CTRC	M	rs121909293	PASS	.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81	82	82	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	760	4.7	1	1	dbSNP_133	82	33,8567	22.8+/-68.1	0,33,4267	yes	missense	CTRC	NM_007272.2	101	0,34,6469	TT,TC,CC		0.3837,0.0227,0.2614	probably-damaging	254/269	15772212	34,12972	2203	4300	6503	SO:0001583	missense	11330	exon7			TACACCCGGGTGT	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.760C>T	1.37:g.15772212C>T	ENSP00000365116:p.Arg254Trp	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	37	10	0.27027	NM_007272	A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	CCDS156.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	C	19.97	3.925157	0.73213	2.27E-4	0.003837	ENSG00000162438	ENST00000375949	D	0.94793	-3.52	4.68	4.68	0.58851	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.053971	0.85682	D	0.000000	D	0.97244	0.9099	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96153	0.9109	10	0.87932	D	0	-43.8301	16.7021	0.85357	0.0:1.0:0.0:0.0	.	254	Q99895	CTRC_HUMAN	W	254	ENSP00000365116:R254W	ENSP00000365116:R254W	R	+	1	2	CTRC	15644799	0.930000	0.31532	1.000000	0.80357	0.586000	0.36452	1.189000	0.32114	2.606000	0.88127	0.650000	0.86243	CGG	C|0.997;T|0.003	0.003	strong		0.632	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		T	15772212	C	T	15772212	3	4	23	1	0	0	0	0	1	0	0	0	4027	643	23	1	786	1	CTRC	1	15772212	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1663098	15772212	233478409	35	16491										
CELA2B	51032	hgsc.bcm.edu	37	chr1	15808767	15808767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctttctcccagctcctccGggatctaccgcgtgatgctg	9	17	2	1	rs3820071	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15808767G>A	ENST00000375910.3	+	4	260	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3820071). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CAGCTCCTCCGGGATCTACCG	0.567													G|||	1635	0.326478	0.2776	0.3473	5008	,	,		14119	0.5685		0.2416	False		,,,				2504	0.2157				p.G79R		Atlas-SNP	.											CELA2B_ENST00000422901,NS,carcinoma,-1,6	CELA2B	37	6	0			c.G235A						PASS	.	G	ARG/GLY	1149,3257	407.5+/-334.3	143,863,1197	61	62	62		235	-6.2	0.2	1	dbSNP_107	62	2113,6487	363.2+/-333.1	270,1573,2457	yes	missense	CELA2B	NM_015849.2	125	413,2436,3654	AA,AG,GG		24.5698,26.0781,25.0807	benign	79/270	15808767	3262,9744	2203	4300	6503	SO:0001583	missense	51032	exon4			TCCTCCGGGATCT		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.235G>A	1.37:g.15808767G>A	ENSP00000365075:p.Gly79Arg	Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	66	65	0.984848	NM_015849	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	741	0.3392857142857143	121	0.2459349593495935	112	0.30939226519337015	311	0.5437062937062938	197	0.2598944591029024	G	0	-2.798414	0.00076	0.260781	0.245698	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.90261	-2.35;-2.64	3.08	-6.17	0.02091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.574111	0.15655	N	0.251153	T	0.00012	0.0000	N	0.12887	0.27	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41484	-0.9506	9	0.02654	T	1	.	0.8149	0.01100	0.2489:0.3212:0.1134:0.3166	rs3820071;rs17214904;rs52801345;rs59821889;rs3820071	79	P08218	CEL2B_HUMAN	R	79;86;98	ENSP00000365075:G79R;ENSP00000399811:G98R	ENSP00000365074:G86R	G	+	1	0	CELA2B	15681354	0.000000	0.05858	0.173000	0.22940	0.003000	0.03518	-1.849000	0.01672	-0.954000	0.03640	-2.217000	0.00297	GGG	G|0.706;A|0.294	0.294	strong		0.567	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15808767	G	A	15808767	3	1	23	1	0	0	0	0	1	0	0	0	3212	1116	39	1	249	1	CELA2B	1	15808767	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36555	15808767	233441854	36	16492										
CELA2B	51032	hgsc.bcm.edu	37	chr1	15808872	15808872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacaaggactggaactccGaccaggtctccaaagggttc	11	12	1	0	rs3766160	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15808872G>A	ENST00000375910.3	+	4	365	c.340G>A	c.(340-342)Gac>Aac	p.D114N	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in dbSNP:rs3766160). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGAACTCCGACCAGGTCTC	0.572													G|||	1578	0.315096	0.2769	0.2896	5008	,	,		16447	0.5575		0.2376	False		,,,				2504	0.2147				p.D114N		Atlas-SNP	.											.	CELA2B	37	.	0			c.G340A						PASS	.	G	ASN/ASP	1151,3255	409.7+/-335.1	143,865,1195	117	114	115		340	0.5	0.1	1	dbSNP_107	115	2111,6489	363.7+/-333.3	269,1573,2458	yes	missense	CELA2B	NM_015849.2	23	412,2438,3653	AA,AG,GG		24.5465,26.1235,25.0807	benign	114/270	15808872	3262,9744	2203	4300	6503	SO:0001583	missense	51032	exon4			AACTCCGACCAGG		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.340G>A	1.37:g.15808872G>A	ENSP00000365075:p.Asp114Asn	Somatic	242	1	0.00413223		WXS	Illumina HiSeq	Phase_I	165	157	0.951515	NM_015849	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	701	0.320970695970696	118	0.23983739837398374	85	0.23480662983425415	305	0.5332167832167832	193	0.2546174142480211	G	0.134	-1.110469	0.01813	0.261235	0.245465	ENSG00000215704	ENST00000375910	D	0.88818	-2.43	3.01	0.469	0.16741	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.623510	0.03801	N	0.264463	T	0.00012	0.0000	N	0.04959	-0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.02654	T	1	.	3.9956	0.09556	0.6422:0.2254:0.1324:0.0	rs3766160;rs52831934;rs61093493;rs3766160	114	P08218	CEL2B_HUMAN	N	114	ENSP00000365075:D114N	ENSP00000365075:D114N	D	+	1	0	CELA2B	15681459	0.000000	0.05858	0.073000	0.20177	0.080000	0.17528	0.067000	0.14510	-0.020000	0.14032	-0.532000	0.04303	GAC	G|0.715;A|0.285	0.285	strong		0.572	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15808872	G	A	15808872	3	1	23	1	0	0	0	0	1	0	0	0	3212	1058	37	1	354	1	CELA2B	1	15808872	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	105	15808872	233441749	37	16493										
CASP9	842	hgsc.bcm.edu	37	chr1	15844615	15844615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctacttaccgacatcaccAaatcctccagaaccaatgtc	4	15	1	1	rs1132312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15844615A>G	ENST00000333868.5	-	2	502	c.408T>C	c.(406-408)ttT>ttC	p.F136F	CASP9_ENST00000469637.1_5'Flank|CASP9_ENST00000375890.4_Silent_p.F53F|CASP9_ENST00000348549.5_Silent_p.F136F|CASP9_ENST00000546424.1_Silent_p.F136F	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	136			F -> L (in dbSNP:rs1820204).		activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.F136F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CGACATCACCAAATCCTCCAG	0.507													G|||	2929	0.584864	0.739	0.4986	5008	,	,		18823	0.6538		0.5149	False		,,,				2504	0.4387				p.F136F		Atlas-SNP	.											CASP9,NS,carcinoma,0,1	CASP9	40	1	1	Substitution - coding silent(1)	stomach(1)	c.T408C						PASS	.	G	,	3099,1307	441.8+/-346.5	1100,899,204	113	101	105		408,159	-3	0	1	dbSNP_92	105	4542,4058	559.4+/-387.4	1215,2112,973	no	coding-synonymous,coding-synonymous	CASP9	NM_001229.3,NM_032996.2	,	2315,3011,1177	GG,GA,AA		47.186,29.6641,41.2502	,	136/417,53/334	15844615	7641,5365	2203	4300	6503	SO:0001819	synonymous_variant	842	exon2			ATCACCAAATCCT	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.408T>C	1.37:g.15844615A>G		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	92	88	0.956522	NM_001229	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Silent	SNP	ENST00000333868.5	37	CCDS158.1																																																																																			G|0.589;A|0.411	0.589	strong		0.507	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		G	15844615	A	G	15844615	2	3	23	1	0	0	0	0	0	0	0	1	2679	127	5	2		2	CASP9	1	15844615	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	35743	15844615	233406006	38	16494										
CASP9	842	hgsc.bcm.edu	37	chr1	15850613	15850613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagctcgcggctcagcaggGcgtcccagagctggtccacc	13	16	1	1	rs1052571	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15850613G>A	ENST00000333868.5	-	1	177	c.83C>T	c.(82-84)gCc>gTc	p.A28V	CASP9_ENST00000469637.1_Intron|DNAJC16_ENST00000375849.1_5'Flank|CASP9_ENST00000375890.4_Intron|DNAJC16_ENST00000375838.1_5'Flank|CASP9_ENST00000348549.5_Missense_Mutation_p.A28V|DNAJC16_ENST00000375847.3_5'Flank|CASP9_ENST00000546424.1_Missense_Mutation_p.A28V	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	28	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.		A -> V (in dbSNP:rs1052571). {ECO:0000269|PubMed:16780893, ECO:0000269|PubMed:8663294, ECO:0000269|PubMed:9890966, ECO:0000269|Ref.9}.		activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCTCAGCAGGGCGTCCCAGAG	0.711													G|||	2928	0.584665	0.739	0.4986	5008	,	,		5756	0.6538		0.5149	False		,,,				2504	0.4376				p.A28V		Atlas-SNP	.											.	CASP9	40	.	0			c.C83T						PASS	.						8	10	10					1																	15850613		2109	4166	6275	SO:0001583	missense	842	exon1			AGCAGGGCGTCCC	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.83C>T	1.37:g.15850613G>A	ENSP00000330237:p.Ala28Val	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	30	29	0.966667	NM_001229	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	CCDS158.1	1291	0.5911172161172161	350	0.7113821138211383	179	0.494475138121547	358	0.6258741258741258	404	0.5329815303430079	G	15.45	2.836320	0.50951	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.59	1.33	0.21861	DEATH-like (2);Caspase Recruitment (3);	0.919308	0.09391	N	0.808563	T	0.00012	0.0000	M	0.63428	1.95	0.21290	P	0.999735974	P;B;B	0.42908	0.793;0.009;0.029	B;B;B	0.39562	0.303;0.015;0.015	T	0.33394	-0.9870	9	0.22109	T	0.4	.	4.6003	0.12350	0.2169:0.0:0.6031:0.18	rs1052571;rs3192982;rs59045053;rs1052571	28;28;28	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	V	28	ENSP00000449584:A28V;ENSP00000330237:A28V;ENSP00000255256:A28V;ENSP00000411304:A28V	ENSP00000330237:A28V	A	-	2	0	CASP9	15723200	0.277000	0.24220	0.926000	0.36857	0.713000	0.41058	0.257000	0.18369	0.500000	0.27991	0.305000	0.20034	GCC	G|0.387;A|0.613	0.613	strong		0.711	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		A	15850613	G	A	15850613	3	1	23	1	0	0	0	0	1	0	0	0	2679	1203	42	2	1203	2	CASP9	1	15850613	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5998	15850613	233400008	39	16495										
AGMAT	79814	hgsc.bcm.edu	37	chr1	15909850	15909850	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgctaggattgactgtccCaagcatcactgattcttccc	8	13	2	2	rs6429757	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15909850C>G	ENST00000375826.3	-	2	455	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	105			G -> R (in dbSNP:rs6429757). {ECO:0000269|PubMed:11804860, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTGACTGTCCCAAGCATCACT	0.527													G|||	3171	0.633187	0.9017	0.5274	5008	,	,		18672	0.6359		0.5288	False		,,,				2504	0.4499				p.G105R	NSCLC(126;1678 1780 25805 43508 49531)	Atlas-SNP	.											.	AGMAT	25	.	0			c.G313C						PASS	.	G	ARG/GLY	3749,657	279.0+/-274.6	1598,553,52	63	57	59		313	-1.4	0	1	dbSNP_116	59	4755,3845	541.2+/-384.0	1338,2079,883	yes	missense	AGMAT	NM_024758.4	125	2936,2632,935	GG,GC,CC		44.7093,14.9115,34.6148	benign	105/353	15909850	8504,4502	2203	4300	6503	SO:0001583	missense	79814	exon2			CTGTCCCAAGCAT	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.313G>C	1.37:g.15909850C>G	ENSP00000364986:p.Gly105Arg	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	64	64	1	NM_024758	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	1383	0.6332417582417582	428	0.8699186991869918	193	0.5331491712707183	344	0.6013986013986014	418	0.5514511873350924	G	0.008	-1.909524	0.00508	0.850885	0.552907	ENSG00000116771	ENST00000375826	D	0.84800	-1.9	5.13	-1.41	0.08941	Ureohydrolase domain (1);	0.051023	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00405	-1.535	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	9	0.02654	T	1	-8.5468	3.7841	0.08692	0.0764:0.1895:0.3075:0.4267	rs6429757;rs17856129;rs56615894;rs6429757	105	Q9BSE5	SPEB_HUMAN	R	105	ENSP00000364986:G105R	ENSP00000364986:G105R	G	-	1	0	AGMAT	15782437	0.997000	0.39634	0.010000	0.14722	0.138000	0.21146	0.598000	0.24074	-0.321000	0.08627	-0.986000	0.02555	GGG	C|0.348;G|0.652	0.652	strong		0.527	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		G	15909850	C	G	15909850	3	3	23	1	0	0	0	0	1	0	0	0	385	594	21	4	769	4	AGMAT	1	15909850	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	59237	15909850	233340771	40	16496										
DDI2	84301	hgsc.bcm.edu	37	chr1	15959977	15959977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcagcagcaggaccgagcCcggagagagcaagaaaggat	16	9	0	2	rs3795763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15959977C>T	ENST00000480945.1	+	4	720	c.549C>T	c.(547-549)gcC>gcT	p.A183A		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	183							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGACCGAGCCCGGAGAGAGC	0.403													C|||	1257	0.250998	0.4493	0.2176	5008	,	,		18022	0.0317		0.2684	False		,,,				2504	0.2147				p.A183A		Atlas-SNP	.											.	DDI2	38	.	0			c.C549T						PASS	.	C		1831,2575	535.8+/-374.3	406,1019,778	186	222	210		549	2.7	1	1	dbSNP_107	210	2428,6172	401.3+/-347.1	326,1776,2198	no	coding-synonymous	DDI2	NM_032341.4		732,2795,2976	TT,TC,CC		28.2326,41.557,32.7464		183/400	15959977	4259,8747	2203	4300	6503	SO:0001819	synonymous_variant	84301	exon4			CCGAGCCCGGAGA		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.549C>T	1.37:g.15959977C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	64	17	0.265625	NM_032341	A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	CCDS30607.1																																																																																			C|0.707;T|0.293	0.293	strong		0.403	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		T	15959977	C	T	15959977	2	4	23	1	0	0	0	0	0	0	0	1	4329	610	22	2		2	DDI2	1	15959977	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	50127	15959977	233290644	41	16497										
RSC1A1	6248	hgsc.bcm.edu	37	chr1	15986547	15986547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgaaggcttcagctgaaTtccagctaaactctgaaaag	8	9	2	3	rs3766163	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:15986547T>C	ENST00000345034.1	+	1	184	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	62			F -> L (in dbSNP:rs3766163). {ECO:0000269|PubMed:14702039}.		intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCTGAATTCCAGCTAAA	0.458													T|||	1256	0.250799	0.4478	0.2176	5008	,	,		21772	0.0317		0.2694	False		,,,				2504	0.2147				p.F62L		Atlas-SNP	.											.	RSC1A1	29	.	0			c.T184C						PASS	.	T	LEU/PHE,	1830,2576	536.1+/-374.4	405,1020,778	125	131	129		184,	4.5	1	1	dbSNP_107	129	2425,6175	400.9+/-346.9	324,1777,2199	yes	missense,utr-3	RSC1A1,DDI2	NM_006511.1,NM_032341.4	22,	729,2797,2977	CC,CT,TT		28.1977,41.5343,32.7157	benign,	62/618,	15986547	4255,8751	2203	4300	6503	SO:0001583	missense	6248	exon1			GCTGAATTCCAGC	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.184T>C	1.37:g.15986547T>C	ENSP00000341963:p.Phe62Leu	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	62	19	0.306452	NM_006511	B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	CCDS161.1	536	0.2454212454212454	211	0.42886178861788615	102	0.281767955801105	23	0.04020979020979021	200	0.2638522427440633	T	3.705	-0.060682	0.07317	0.415343	0.281977	ENSG00000215695	ENST00000345034	T	0.39229	1.09	5.61	4.48	0.54585	.	0.276090	0.25971	N	0.027139	T	0.00012	0.0000	N	0.19112	0.55	0.36160	P	0.15193	B	0.17268	0.021	B	0.15484	0.013	T	0.40040	-0.9584	9	0.02654	T	1	-23.5652	8.289	0.31946	0.0:0.1583:0.0:0.8417	rs3766163;rs59513823;rs3766163	62	Q92681	RSCA1_HUMAN	L	62	ENSP00000341963:F62L	ENSP00000341963:F62L	F	+	1	0	RSC1A1	15859134	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.411000	0.34702	0.966000	0.38159	0.459000	0.35465	TTC	T|0.708;C|0.292	0.292	strong		0.458	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		C	15986547	T	C	15986547	3	2	23	1	0	0	0	0	1	0	0	0	13698	1493	52	2	186	2	RSC1A1	1	15986547	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26570	15986547	233264074	42	16498										
PLEKHM2	23207	hgsc.bcm.edu	37	chr1	16044401	16044401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcaggccgtgcctggctGtacctggccctcaacgagaa	12	13	1	1	rs16851970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16044401G>A	ENST00000375799.3	+	4	518	c.291G>A	c.(289-291)ctG>ctA	p.L97L	PLEKHM2_ENST00000375793.2_Silent_p.L97L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	97	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GTGCCTGGCTGTACCTGGCCC	0.547													G|||	932	0.186102	0.3676	0.1527	5008	,	,		21735	0.0337		0.1889	False		,,,				2504	0.1186				p.L97L		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.G291A						PASS	.	G		1185,2735		177,831,952	62	64	63		291	2	1	1	dbSNP_123	63	1573,6729		144,1285,2722	no	coding-synonymous	PLEKHM2	NM_015164.2		321,2116,3674	AA,AG,GG		18.9472,30.2296,22.5659		97/1020	16044401	2758,9464	1960	4151	6111	SO:0001819	synonymous_variant	23207	exon4			CTGGCTGTACCTG	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.291G>A	1.37:g.16044401G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	64	17	0.265625	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																			G|0.797;A|0.203	0.203	strong		0.547	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		A	16044401	G	A	16044401	2	1	23	1	0	0	0	0	0	0	0	1	12081	1364	48	2		2	PLEKHM2	1	16044401	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	57854	16044401	233206220	43	16499										
PLEKHM2	23207	hgsc.bcm.edu	37	chr1	16056364	16056364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctaccccagcatcctgacGgatgccaccatggagaagct	9	16	0	2	rs3817269	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16056364G>A	ENST00000375799.3	+	14	2375	c.2148G>A	c.(2146-2148)acG>acA	p.T716T	PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.T696T|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	716					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCATCCTGACGGATGCCACCA	0.527													G|||	1536	0.306709	0.711	0.2565	5008	,	,		7266	0.0437		0.2087	False		,,,				2504	0.1677				p.T716T		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.G2148A						PASS	.	G		2435,1507		754,927,290	68	71	70		2148	-10.9	0.7	1	dbSNP_107	70	1907,6413		224,1459,2477	no	coding-synonymous	PLEKHM2	NM_015164.2		978,2386,2767	AA,AG,GG		22.9207,38.2293,35.4102		716/1020	16056364	4342,7920	1971	4160	6131	SO:0001819	synonymous_variant	23207	exon14			CCTGACGGATGCC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2148G>A	1.37:g.16056364G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																			G|0.678;A|0.322	0.322	strong		0.527	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		A	16056364	G	A	16056364	2	1	23	1	0	0	0	0	0	0	0	1	12081	1103	39	1		1	PLEKHM2	1	16056364	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11963	16056364	233194257	44	16500										
TMEM82	388595	hgsc.bcm.edu	37	chr1	16069644	16069644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggctgccctcgtggtgctCgagttctccctccgggccgt	14	15	1	0	rs11584945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16069644C>T	ENST00000375782.1	+	3	429	c.291C>T	c.(289-291)ctC>ctT	p.L97L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	97	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGTGCTCGAGTTCTCCC	0.711													C|||	928	0.185304	0.23	0.1744	5008	,	,		13275	0.0337		0.2883	False		,,,				2504	0.183				p.L97L		Atlas-SNP	.											.	TMEM82	30	.	0			c.C291T						PASS	.	C		920,3484	345.7+/-308.6	98,724,1380	48	46	46		291	-8.9	0.7	1	dbSNP_120	46	2385,6213	391.8+/-343.8	362,1661,2276	no	coding-synonymous	TMEM82	NM_001013641.1		460,2385,3656	TT,TC,CC		27.739,20.8901,25.4192		97/344	16069644	3305,9697	2202	4299	6501	SO:0001819	synonymous_variant	388595	exon3			GGTGCTCGAGTTC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.291C>T	1.37:g.16069644C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	76	16	0.210526	NM_001013641	B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	CCDS30608.1																																																																																			C|0.766;T|0.234	0.234	strong		0.711	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		T	16069644	C	T	16069644	2	4	23	1	0	0	0	0	0	0	0	1	16203	871	31	1		1	TMEM82	1	16069644	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13280	16069644	233180977	45	16501										
SPEN	23013	hgsc.bcm.edu	37	chr1	16256007	16256007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaagcaagactgggagaacTagcaggtgaatctgtggaaa	13	6	1	3	rs848209|rs386628859	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16256007T>C	ENST00000375759.3	+	11	3476	c.3272T>C	c.(3271-3273)cTa>cCa	p.L1091P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1091			L -> P (in dbSNP:rs848209). {ECO:0000269|PubMed:14702039}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGGAGAACTAGCAGGTGAA	0.478													C|||	3250	0.648962	0.9758	0.7118	5008	,	,		18084	0.3214		0.5577	False		,,,				2504	0.5941				p.L1091P		Atlas-SNP	.											.	SPEN	374	.	0			c.T3272C						PASS	.	C	PRO/LEU	3989,417	198.4+/-222.2	1827,335,41	42	45	44		3272	3.5	0.5	1	dbSNP_86	44	4956,3644	522.8+/-380.2	1426,2104,770	yes	missense	SPEN	NM_015001.2	98	3253,2439,811	CC,CT,TT		42.3721,9.4644,31.2241	benign	1091/3665	16256007	8945,4061	2203	4300	6503	SO:0001583	missense	23013	exon11			GAGAACTAGCAGG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3272T>C	1.37:g.16256007T>C	ENSP00000364912:p.Leu1091Pro	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	147	42	0.285714	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	1320	0.6043956043956044	469	0.9532520325203252	252	0.6961325966850829	174	0.3041958041958042	425	0.5606860158311345	C	0.188	-1.056057	0.01965	0.905356	0.576279	ENSG00000065526	ENST00000375759	T	0.07327	3.2	5.39	3.51	0.40186	.	.	.	.	.	T	0.00012	0.0000	N	0.02142	-0.665	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.19778	-1.0295	8	0.20519	T	0.43	-0.1843	11.1582	0.48499	0.0:0.7988:0.0:0.2012	rs848209;rs17387129;rs52796232;rs57983056;rs848209	1091	Q96T58	MINT_HUMAN	P	1091	ENSP00000364912:L1091P	ENSP00000364912:L1091P	L	+	2	0	SPEN	16128594	0.064000	0.20934	0.520000	0.27837	0.397000	0.30659	1.031000	0.30165	0.411000	0.25702	-0.128000	0.14901	CTA	T|0.347;C|0.653	0.653	strong		0.478	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16256007	T	C	16256007	3	2	23	1	0	0	0	0	1	0	0	0	15037	1522	53	3	3314	3	SPEN	1	16256007	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	186363	16256007	232994614	46	16502										
SPEN	23013	hgsc.bcm.edu	37	chr1	16259813	16259813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagccatgtccctgaatccAaccaagctcaaggtgagagt	10	11	1	3	rs848210	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16259813A>G	ENST00000375759.3	+	11	7282	c.7078A>G	c.(7078-7080)Aac>Gac	p.N2360D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2360	Interaction with MSX2. {ECO:0000250}.|RID.		N -> D (in dbSNP:rs848210).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTGAATCCAACCAAGCTCA	0.532													G|||	3250	0.648962	0.9758	0.7118	5008	,	,		17756	0.3214		0.5577	False		,,,				2504	0.5941				p.N2360D		Atlas-SNP	.											.	SPEN	374	.	0			c.A7078G						PASS	.	G	ASP/ASN	4014,392	195.3+/-220.0	1826,362,15	93	110	104		7078	3.1	0	1	dbSNP_86	104	4955,3645	524.0+/-380.4	1425,2105,770	yes	missense	SPEN	NM_015001.2	23	3251,2467,785	GG,GA,AA		42.3837,8.897,31.0395	benign	2360/3665	16259813	8969,4037	2203	4300	6503	SO:0001583	missense	23013	exon11			GAATCCAACCAAG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7078A>G	1.37:g.16259813A>G	ENSP00000364912:p.Asn2360Asp	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	65	16	0.246154	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	1320	0.6043956043956044	469	0.9532520325203252	252	0.6961325966850829	174	0.3041958041958042	425	0.5606860158311345	G	2.912	-0.225237	0.06022	0.91103	0.576163	ENSG00000065526	ENST00000375759	T	0.08102	3.13	5.15	3.1	0.35709	.	.	.	.	.	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	8	0.12103	T	0.63	-1.0705	7.596	0.28048	0.1608:0.1321:0.7072:0.0	rs848210;rs1619706;rs61684002;rs848210	2360	Q96T58	MINT_HUMAN	D	2360	ENSP00000364912:N2360D	ENSP00000364912:N2360D	N	+	1	0	SPEN	16132400	0.499000	0.26083	0.003000	0.11579	0.181000	0.23173	2.198000	0.42705	0.110000	0.17919	-0.355000	0.07637	AAC	A|0.346;G|0.654	0.654	strong		0.532	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16259813	A	G	16259813	3	3	23	1	0	0	0	0	1	0	0	0	15037	130	5	2	7120	2	SPEN	1	16259813	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3806	16259813	232990808	47	16503										
ZBTB17	7709	hgsc.bcm.edu	37	chr1	16271260	16271260	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctgcactcccggcacgaGaagggcttctcccccgtgtg	12	15	1	1	rs9661939	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16271260G>A	ENST00000375743.4	-	8	1234	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.F334F|ZBTB17_ENST00000448462.2_Silent_p.F271F|ZBTB17_ENST00000537142.1_Silent_p.F252F	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	334				F -> S (in Ref. 2; BAG63326). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGGCACGAGAAGGGCTTCT	0.667													G|||	1043	0.208267	0.0779	0.3098	5008	,	,		16462	0.0169		0.3052	False		,,,				2504	0.41				p.F334F		Atlas-SNP	.											.	ZBTB17	45	.	0			c.C1002T						PASS	.	G	,	478,3928	216.4+/-235.1	27,424,1752	42	43	43		756,1002	5.5	1	1	dbSNP_119	43	2602,5998	412.5+/-350.8	413,1776,2111	no	coding-synonymous,coding-synonymous	ZBTB17	NM_001242884.1,NM_003443.2	,	440,2200,3863	AA,AG,GG		30.2558,10.8488,23.6814	,	252/722,334/804	16271260	3080,9926	2203	4300	6503	SO:0001819	synonymous_variant	7709	exon8			GCACGAGAAGGGC	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1002C>T	1.37:g.16271260G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	72	16	0.222222	NM_003443	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	ENST00000375743.4	37	CCDS165.1																																																																																			G|0.802;A|0.198	0.198	strong		0.667	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		A	16271260	G	A	16271260	2	1	23	1	0	0	0	0	0	0	0	1	17524	933	33	2		2	ZBTB17	1	16271260	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11447	16271260	232979361	48	16504										
CLCNKA	1187	hgsc.bcm.edu	37	chr1	16351275	16351275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcacaccagtggctgtacAgggagattggggacagccac	14	11	0	1	rs10927887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16351275A>G	ENST00000331433.4	+	4	266	c.247A>G	c.(247-249)Agg>Ggg	p.R83G	CLCNKA_ENST00000420078.1_Missense_Mutation_p.R83G|CLCNKA_ENST00000375692.1_Missense_Mutation_p.R83G|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	83			R -> G (in dbSNP:rs10927887). {ECO:0000269|Ref.3}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGGCTGTACAGGGAGATTGG	0.617													G|||	3220	0.642971	0.7201	0.4467	5008	,	,		9165	0.7688		0.5636	False		,,,				2504	0.6299				p.R83G		Atlas-SNP	.											.	CLCNKA	56	.	0			c.A247G						PASS	.	G	GLY/ARG,GLY/ARG	3067,1339	445.9+/-347.8	1060,947,196	101	77	85		247,247	0.9	1	1	dbSNP_120	85	4748,3852	542.8+/-384.3	1336,2076,888	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	125,125	2396,3023,1084	GG,GA,AA		44.7907,30.3904,39.9123	benign,benign	83/687,83/688	16351275	7815,5191	2203	4300	6503	SO:0001583	missense	1187	exon4			CTGTACAGGGAGA		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.247A>G	1.37:g.16351275A>G	ENSP00000332771:p.Arg83Gly	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	114	89	0.780702	NM_004070	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	1365	0.625	348	0.7073170731707317	172	0.47513812154696133	428	0.7482517482517482	417	0.5501319261213721	G	4.371	0.068461	0.08436	0.696096	0.552093	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000331433	D;D;D	0.92495	-3.05;-3.05;-3.05	4.0	0.872	0.19113	Chloride channel, core (2);	0.865352	0.10003	N	0.728172	T	0.00012	0.0000	L	0.45352	1.415	0.41837	P	0.009898999999999991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46414	-0.9193	9	0.28530	T	0.3	.	7.3212	0.26528	0.3182:0.3866:0.2951:0.0	rs10927887	83;83	Q5T5Q4;P51800	.;CLCKA_HUMAN	G	83	ENSP00000364844:R83G;ENSP00000410353:R83G;ENSP00000332771:R83G	ENSP00000332771:R83G	R	+	1	2	CLCNKA	16223862	0.847000	0.29606	0.991000	0.47740	0.505000	0.33919	0.593000	0.23999	-0.153000	0.11137	-1.325000	0.01285	AGG	A|0.397;G|0.603	0.603	strong		0.617	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			G	16351275	A	G	16351275	3	3	23	1	0	0	0	0	1	0	0	0	3469	179	7	3	257	3	CLCNKA	1	16351275	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	80015	16351275	232899346	49	16505										
FAM131C	348487	hgsc.bcm.edu	37	chr1	16384998	16384998	+	Silent	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaggggagggagcccggGgggtgggtcccaccctcggg					rs1807285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16384998G>C	ENST00000375662.4	-	7	960	c.777C>G	c.(775-777)ccC>ccG	p.P259P	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	259	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGCCCGGGGGGTGGGTCC	0.716													C|||	1887	0.376797	0.4032	0.2795	5008	,	,		19381	0.4315		0.336	False		,,,				2504	0.3957				p.P259P		Atlas-SNP	.											FAM131C,NS,carcinoma,-1,2	FAM131C	21	2	0			c.C777G						scavenged	.						2	2	2					1																	16384998		1394	3106	4500	SO:0001819	synonymous_variant	348487	exon7			GCCCGGGGGGTGG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.777C>G	1.37:g.16384998G>C		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	9	4	0.444444	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																			G|0.706;C|0.294	0.294	strong		0.716	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		C	16384998	G	C	16384998	2	2	23	1	0	0	0	0	0	0	0	1	5441	1219	43	4		4	FAM131C	1	16384998	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33723	16384998	232865623	50	16506	357	2								
FAM131C	348487	hgsc.bcm.edu	37	chr1	16384999	16384999	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaggggagggagcccgggGggtgggtcccaccctcgggt					rs1807284	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16384999G>A	ENST00000375662.4	-	7	959	c.776C>T	c.(775-777)cCc>cTc	p.P259L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	259	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCCCGGGGGGTGGGTCCC	0.721													A|||	1887	0.376797	0.4032	0.2795	5008	,	,		19329	0.4315		0.336	False		,,,				2504	0.3957				p.P259L		Atlas-SNP	.											FAM131C,NS,carcinoma,0,2	FAM131C	21	2	0			c.C776T						scavenged	.						2	3	3					1																	16384999		1408	3137	4545	SO:0001583	missense	348487	exon7			CCCGGGGGGTGGG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.776C>T	1.37:g.16384999G>A	ENSP00000364814:p.Pro259Leu	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	9	4	0.444444	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	618	0.28296703296703296	170	0.34552845528455284	94	0.2596685082872928	168	0.2937062937062937	186	0.24538258575197888	A	0.006	-2.029401	0.00410	.	.	ENSG00000185519	ENST00000375662	T	0.11821	2.74	4.65	-2.16	0.07080	.	1.628260	0.03484	N	0.215578	T	0.00012	0.0000	N	0.00972	-1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43605	-0.9381	10	0.02654	T	1	.	10.8536	0.46784	0.4433:0.0:0.5567:0.0	rs1807284;rs3884147	259	Q96AQ9	F131C_HUMAN	L	259	ENSP00000364814:P259L	ENSP00000364814:P259L	P	-	2	0	FAM131C	16257586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.041000	0.12084	-1.034000	0.03295	-1.271000	0.01417	CCC	G|0.717;A|0.283	0.283	strong		0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16384999	G	A	16384999	3	1	23	1	0	0	0	0	1	0	0	0	5441	1232	43	2	70	2	FAM131C	1	16384999	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	16384999	232865622	51	16507	357	2								
FAM131C	348487	hgsc.bcm.edu	37	chr1	16385042	16385042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgggccccgggcagccgccGccgatgctgcagctctgggc	16	16	1	0	rs77667563	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16385042G>A	ENST00000375662.4	-	7	916	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	245	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCCGCCGCCGATGCTGC	0.741																																					p.R245W		Atlas-SNP	.											FAM131C,NS,other,0,1	FAM131C	21	1	0			c.C733T						PASS	.						2	2	2					1																	16385042		1409	3130	4539	SO:0001583	missense	348487	exon7			GCCGCCGCCGATG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.733C>T	1.37:g.16385042G>A	ENSP00000364814:p.Arg245Trp	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	43	17	0.395349	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	773	0.35393772893772896	210	0.4268292682926829	106	0.292817679558011	224	0.3916083916083916	233	0.3073878627968338	G	11.88	1.771185	0.31320	.	.	ENSG00000185519	ENST00000375662	T	0.15487	2.42	4.8	-0.971	0.10303	.	2.839240	0.01092	N	0.005214	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.65815	0.995	P	0.46825	0.528	T	0.32428	-0.9907	9	0.54805	T	0.06	-7.4813	4.4045	0.11402	0.1749:0.0:0.3887:0.4365	.	245	Q96AQ9	F131C_HUMAN	W	245	ENSP00000364814:R245W	ENSP00000364814:R245W	R	-	1	2	FAM131C	16257629	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.080000	0.11339	-0.172000	0.10779	0.549000	0.68633	CGG	G|0.646;A|0.354	0.354	strong		0.741	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16385042	G	A	16385042	3	1	23	1	0	0	0	0	1	0	0	0	5441	1086	38	1	113	1	FAM131C	1	16385042	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43	16385042	232865579	52	16508										
EPHA2	1969	hgsc.bcm.edu	37	chr1	16475123	16475123	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtagacacggacggagagCagcgccacacaggcaccgat					rs6678616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16475123C>T	ENST00000358432.5	-	3	727	c.573G>A	c.(571-573)ctG>ctA	p.L191L	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	191	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGACGGAGAGCAGCGCCACAC	0.647													C|||	1134	0.226438	0.146	0.366	5008	,	,		19385	0.0308		0.3618	False		,,,				2504	0.2986				p.L191L		Atlas-SNP	.											.	EPHA2	102	.	0			c.G573A						PASS	.	C		733,3673	301.5+/-286.9	67,599,1537	64	62	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	573	3.1	1	1	dbSNP_116	62	2973,5627	460.4+/-365.2	510,1953,1837	no	coding-synonymous	EPHA2	NM_004431.3		577,2552,3374	TT,TC,CC		34.5698,16.6364,28.4945		191/977	16475123	3706,9300	2203	4300	6503	SO:0001819	synonymous_variant	1969	exon3			GGAGAGCAGCGCC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.573G>A	1.37:g.16475123C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	43	10	0.232558	NM_004431	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																			C|0.740;T|0.260	0.260	strong		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		T	16475123	C	T	16475123	2	4	23	1	0	0	0	0	0	0	0	1	5167	697	25	2		2	EPHA2	1	16475123	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	90081	16475123	232775498	53	16509	358	2								
EPHA2	1969	hgsc.bcm.edu	37	chr1	16475126	16475126	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagacacggacggagagcagCgccacacaggcaccgatatc					rs6678618	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:16475126C>T	ENST00000358432.5	-	3	724	c.570G>A	c.(568-570)gcG>gcA	p.A190A	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	190	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CGGAGAGCAGCGCCACACAGG	0.647													C|||	1135	0.226637	0.146	0.366	5008	,	,		19464	0.0308		0.3618	False		,,,				2504	0.2996				p.A190A		Atlas-SNP	.											EPHA2,NS,adenoma,0,1	EPHA2	102	1	0			c.G570A						PASS	.	C		734,3672	301.3+/-286.8	67,600,1536	63	61	62		570	-5.9	1	1	dbSNP_116	62	2971,5629	459.7+/-365.0	510,1951,1839	no	coding-synonymous	EPHA2	NM_004431.3		577,2551,3375	TT,TC,CC		34.5465,16.6591,28.4869		190/977	16475126	3705,9301	2203	4300	6503	SO:0001819	synonymous_variant	1969	exon3			GAGCAGCGCCACA	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.570G>A	1.37:g.16475126C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	42	10	0.238095	NM_004431	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																			C|0.748;T|0.252	0.252	strong		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		T	16475126	C	T	16475126	2	4	23	1	0	0	0	0	0	0	0	1	5167	755	27	1		1	EPHA2	1	16475126	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3	16475126	232775495	54	16510	358	2								
CROCC	9696	hgsc.bcm.edu	37	chr1	17273396	17273396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggcctggagggctccctAcgagtggcggagcaggccca	17	13	0	0	rs7537468	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:17273396A>G	ENST00000375541.5	+	17	2493	c.2424A>G	c.(2422-2424)ctA>ctG	p.L808L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGGCTCCCTACGAGTGGCGG	0.692																																					p.L808L		Atlas-SNP	.											CROCC,NS,carcinoma,0,1	CROCC	185	1	0			c.A2424G						scavenged	.	A		216,4104		1,214,1945	14	13	13		2424	1.4	0.8	1	dbSNP_116	13	1332,7146		2,1328,2909	no	coding-synonymous	CROCC	NM_014675.3		3,1542,4854	GG,GA,AA		15.7113,5.0,12.0956		808/2018	17273396	1548,11250	2160	4239	6399	SO:0001819	synonymous_variant	9696	exon17			CTCCCTACGAGTG	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2424A>G	1.37:g.17273396A>G		Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	67	14	0.208955	NM_014675		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			A|0.845;G|0.155	0.155	strong		0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		G	17273396	A	G	17273396	2	3	23	1	0	0	0	0	0	0	0	1	3893	378	14	2		2	CROCC	1	17273396	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	798270	17273396	231977225	55	16511										
CROCC	9696	hgsc.bcm.edu	37	chr1	17273444	17273444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggagcagcagctccccacGctgcgccatgagcgcagcca	12	16	0	1	rs7545185	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:17273444G>A	ENST00000375541.5	+	17	2541	c.2472G>A	c.(2470-2472)acG>acA	p.T824T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTCCCCACGCTGCGCCATG	0.701																																					p.T824T		Atlas-SNP	.											CROCC,NS,carcinoma,0,1	CROCC	185	1	0			c.G2472A						PASS	.	G		183,4075		0,183,1946	9	9	9		2472	-5.3	0	1	dbSNP_116	9	1201,7057		4,1193,2932	no	coding-synonymous	CROCC	NM_014675.3		4,1376,4878	AA,AG,GG		14.5435,4.2978,11.0578		824/2018	17273444	1384,11132	2129	4129	6258	SO:0001819	synonymous_variant	9696	exon17			CCCCACGCTGCGC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2472G>A	1.37:g.17273444G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	39	5	0.128205	NM_014675		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			G|0.809;A|0.191	0.191	strong		0.701	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17273444	G	A	17273444	2	1	23	1	0	0	0	0	0	0	0	1	3893	1074	38	1		1	CROCC	1	17273444	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	48	17273444	231977177	56	16512										
PADI2	11240	hgsc.bcm.edu	37	chr1	17410253	17410253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcgcctcggtttaggtactGgaagcagaccttcagctcac	10	12	2	1	rs142403504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:17410253G>A	ENST00000375486.4	-	9	1081	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	PADI2_ENST00000444885.2_Nonsense_Mutation_p.Q224*|PADI2_ENST00000375481.1_Nonsense_Mutation_p.Q340*|PADI2_ENST00000466151.1_5'Flank	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	340					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTTAGGTACTGGAAGCAGACC	0.522													G|||	4	0.000798722	0.0	0.0	5008	,	,		20901	0.0		0.001	False		,,,				2504	0.0031				p.Q340X		Atlas-SNP	.											.	PADI2	72	.	0			c.C1018T						PASS	.	G	stop/GLN	1,4405	2.1+/-5.4	0,1,2202	140	133	135		1018	5.8	1	1	dbSNP_134	135	30,8570	21.0+/-64.5	0,30,4270	yes	stop-gained	PADI2	NM_007365.2		0,31,6472	AA,AG,GG		0.3488,0.0227,0.2384		340/666	17410253	31,12975	2203	4300	6503	SO:0001587	stop_gained	11240	exon9			GGTACTGGAAGCA	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1018C>T	1.37:g.17410253G>A	ENSP00000364635:p.Gln340*	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	121	35	0.289256	NM_007365	Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	38	7.248142	0.98161	2.27E-4	0.003488	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	5.77	5.77	0.91146	.	0.267496	0.41605	D	0.000847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-37.1678	13.5666	0.61822	0.0:0.2539:0.7461:0.0	.	.	.	.	X	340;224;340	.	ENSP00000364630:Q340X	Q	-	1	0	PADI2	17282840	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.120000	0.64685	2.724000	0.93272	0.561000	0.74099	CAG	G|0.998;A|0.002	0.002	strong		0.522	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			A	17410253	G	A	17410253	4	1	23	1	0	0	0	0	0	1	0	0	11378	1357	47	2	1011	2	PADI2	1	17410253	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	136809	17410253	231840368	57	16513										
PADI4	23569	hgsc.bcm.edu	37	chr1	17668563	17668563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctcgctttcccggacaccGacttcccggggctcattacc	8	19	1	0	rs35903413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:17668563G>A	ENST00000375448.4	+	7	804	c.778G>A	c.(778-780)Gac>Aac	p.D260N	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	260			D -> N (in dbSNP:rs35903413).		cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCGGACACCGACTTCCCGGG	0.627													G|||	263	0.052516	0.0129	0.0865	5008	,	,		16205	0.001		0.1531	False		,,,				2504	0.0317				p.D260N		Atlas-SNP	.											.	PADI4	70	.	0			c.G778A						PASS	.	G	ASN/ASP	131,4275	96.2+/-134.9	0,131,2072	85	80	82		778	1.3	0.1	1	dbSNP_126	82	1107,7493	231.1+/-265.2	77,953,3270	yes	missense	PADI4	NM_012387.2	23	77,1084,5342	AA,AG,GG		12.8721,2.9732,9.5187	benign	260/664	17668563	1238,11768	2203	4300	6503	SO:0001583	missense	23569	exon7			GACACCGACTTCC	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.778G>A	1.37:g.17668563G>A	ENSP00000364597:p.Asp260Asn	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	107	21	0.196262	NM_012387	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	156	0.07142857142857142	4	0.008130081300813009	30	0.08287292817679558	1	0.0017482517482517483	121	0.15963060686015831	g	1.634	-0.518326	0.04171	0.029732	0.128721	ENSG00000159339	ENST00000375448	T	0.15372	2.43	4.63	1.27	0.21489	Protein-arginine deiminase (PAD), central domain (2);	0.532611	0.20775	N	0.085903	T	0.00039	0.0001	L	0.29908	0.895	0.80722	P	0.0	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.008	T	0.37009	-0.9724	9	0.20519	T	0.43	-13.0871	6.2085	0.20615	0.5552:0.0:0.4448:0.0	rs35903413	260;260	A8K392;Q9UM07	.;PADI4_HUMAN	N	260	ENSP00000364597:D260N	ENSP00000364597:D260N	D	+	1	0	PADI4	17541150	0.000000	0.05858	0.069000	0.20011	0.041000	0.13682	0.539000	0.23175	0.345000	0.23873	-0.355000	0.07637	GAC	G|0.908;A|0.092	0.092	strong		0.627	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		A	17668563	G	A	17668563	3	1	23	1	0	0	0	0	1	0	0	0	11380	1058	37	1	804	1	PADI4	1	17668563	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	258310	17668563	231582058	58	16514										
ARHGEF10L	55160	hgsc.bcm.edu	37	chr1	17934319	17934319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagagaggaacctgctctaCgaggatgcgcaccgggctgg	16	11	1	1	rs114551094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:17934319C>T	ENST00000361221.3	+	7	615	c.456C>T	c.(454-456)taC>taT	p.Y152Y	ARHGEF10L_ENST00000434513.1_Silent_p.Y152Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.Y152Y|ARHGEF10L_ENST00000452522.1_Silent_p.Y152Y	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	152						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACCTGCTCTACGAGGATGCGC	0.667													C|||	100	0.0199681	0.003	0.0086	5008	,	,		13360	0.0		0.0338	False		,,,				2504	0.0573				p.Y152Y		Atlas-SNP	.											.	ARHGEF10L	219	.	0			c.C456T						PASS	.	C	,	24,4364		0,24,2170	14	18	17		456,456	-6.4	0	1	dbSNP_132	17	322,8234		7,308,3963	no	coding-synonymous,coding-synonymous	ARHGEF10L	NM_001011722.2,NM_018125.3	,	7,332,6133	TT,TC,CC		3.7634,0.5469,2.6731	,	152/1241,152/1280	17934319	346,12598	2194	4278	6472	SO:0001819	synonymous_variant	55160	exon7			GCTCTACGAGGAT	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.456C>T	1.37:g.17934319C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	93	28	0.301075	NM_018125	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	CCDS182.1																																																																																			C|0.981;T|0.019	0.019	strong		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		T	17934319	C	T	17934319	2	4	23	1	0	0	0	0	0	0	0	1	895	547	19	1		1	ARHGEF10L	1	17934319	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	265756	17934319	231316302	59	16515										
ALDH4A1	8659	hgsc.bcm.edu	37	chr1	19212007	19212007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaggatctcagccctgcgcGgcccactcagcatgtctgcc	11	17	3	0	rs139640415	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19212007G>A	ENST00000375341.3	-	5	670	c.413C>T	c.(412-414)cCg>cTg	p.P138L	MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.P78L|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.P138L|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.P138L|ALDH4A1_ENST00000454547.1_5'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	138					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCTGCGCGGCCCACTCAG	0.672													G|||	6	0.00119808	0.0008	0.0014	5008	,	,		10477	0.0		0.004	False		,,,				2504	0.0				p.P138L		Atlas-SNP	.											ALDH4A1_ENST00000375341,NS,carcinoma,+1,2	ALDH4A1	72	2	0			c.C413T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO	12,4392		0,12,2190	27	25	26		233,413,413	3.5	0.7	1	dbSNP_134	26	12,8588		0,12,4288	yes	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	98,98,98	0,24,6478	AA,AG,GG		0.1395,0.2725,0.1846	possibly-damaging,possibly-damaging,possibly-damaging	78/504,138/564,138/564	19212007	24,12980	2202	4300	6502	SO:0001583	missense	8659	exon5			CTGCGCGGCCCAC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.413C>T	1.37:g.19212007G>A	ENSP00000364490:p.Pro138Leu	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	44	32	0.727273	NM_003748	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	14.66	2.601317	0.46423	0.002725	0.001395	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.41	3.54	0.40534	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.237912	0.43416	D	0.000562	T	0.42177	0.1191	M	0.83852	2.665	0.80722	D	1	D	0.53151	0.958	P	0.47864	0.559	T	0.40553	-0.9557	10	0.48119	T	0.1	-36.7716	10.2054	0.43109	0.0751:0.1365:0.7884:0.0	.	138	P30038	AL4A1_HUMAN	L	138;138;138;78;122;36;78;122	ENSP00000290597:P138L;ENSP00000364490:P138L;ENSP00000446071:P138L;ENSP00000442988:P78L;ENSP00000393209:P122L	ENSP00000290597:P138L	P	-	2	0	ALDH4A1	19084594	1.000000	0.71417	0.671000	0.29857	0.115000	0.19883	6.100000	0.71473	0.667000	0.31107	-0.264000	0.10439	CCG	G|0.999;A|0.001	0.001	strong		0.672	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			A	19212007	G	A	19212007	3	1	23	1	0	0	0	0	1	0	0	0	501	1116	39	1	1322	1	ALDH4A1	1	19212007	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1277688	19212007	230038614	60	16516										
UBR4	23352	hgsc.bcm.edu	37	chr1	19415304	19415304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcattgccatggccatgcgCttcttctctgcccgggtctc	9	16	4	0	rs1043899	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19415304C>T	ENST00000375254.3	-	98	14406	c.14379G>A	c.(14377-14379)aaG>aaA	p.K4793K	UBR4_ENST00000375217.2_Silent_p.K4786K|UBR4_ENST00000543981.1_Silent_p.K457K|UBR4_ENST00000429347.2_Silent_p.K316K|UBR4_ENST00000375224.1_Silent_p.K500K|UBR4_ENST00000375226.2_Silent_p.K4769K|UBR4_ENST00000375267.2_Silent_p.K4793K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4793					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCCATGCGCTTCTTCTCTG	0.582													C|||	2964	0.591853	0.5091	0.6787	5008	,	,		20830	0.7589		0.5775	False		,,,				2504	0.4847				p.K4793K		Atlas-SNP	.											.	UBR4	415	.	0			c.G14379A						PASS	.	C		2322,2084	604.4+/-390.3	622,1078,503	89	84	86		14379	4.5	1	1	dbSNP_86	86	4865,3735	618.1+/-396.7	1393,2079,828	no	coding-synonymous	UBR4	NM_020765.2		2015,3157,1331	TT,TC,CC		43.4302,47.2991,44.7409		4793/5184	19415304	7187,5819	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon98			CATGCGCTTCTTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14379G>A	1.37:g.19415304C>T		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	146	106	0.726027	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			C|0.426;T|0.574	0.574	strong		0.582	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19415304	C	T	19415304	2	4	23	1	0	0	0	0	0	0	0	1	16901	796	28	2		2	UBR4	1	19415304	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	203297	19415304	229835317	61	16517										
UBR4	23352	hgsc.bcm.edu	37	chr1	19433449	19433449	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaccgtggtgagggcctcAacggggacatcctggaggag	16	10	2	1	rs6426677	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19433449A>G	ENST00000375254.3	-	82	12144	c.12117T>C	c.(12115-12117)gtT>gtC	p.V4039V	UBR4_ENST00000375217.2_Silent_p.V4032V|UBR4_ENST00000375224.1_5'Flank|UBR4_ENST00000375226.2_Silent_p.V4015V|UBR4_ENST00000375267.2_Silent_p.V4039V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4039					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGGGCCTCAACGGGGACAT	0.602													G|||	3602	0.719249	0.8366	0.7334	5008	,	,		18352	0.8105		0.6083	False		,,,				2504	0.5706				p.V4039V		Atlas-SNP	.											.	UBR4	415	.	0			c.T12117C						PASS	.	G		3555,851	335.2+/-303.8	1434,687,82	43	42	42		12117	-11.3	0	1	dbSNP_116	42	5182,3418	503.2+/-375.9	1576,2030,694	no	coding-synonymous	UBR4	NM_020765.2		3010,2717,776	GG,GA,AA		39.7442,19.3146,32.8233		4039/5184	19433449	8737,4269	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon82			GGCCTCAACGGGG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12117T>C	1.37:g.19433449A>G		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	157	120	0.764331	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			A|0.311;G|0.689	0.689	strong		0.602	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19433449	A	G	19433449	2	3	23	1	0	0	0	0	0	0	0	1	16901	117	5	2		2	UBR4	1	19433449	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	18145	19433449	229817172	62	16518										
UBR4	23352	hgsc.bcm.edu	37	chr1	19499560	19499560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcagctgcaagatggtggTacagtcgatactacagaagg	13	7	0	2	rs16862578	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19499560T>C	ENST00000375254.3	-	25	3346	c.3319A>G	c.(3319-3321)Acc>Gcc	p.T1107A	UBR4_ENST00000375217.2_Missense_Mutation_p.T1107A|UBR4_ENST00000375226.2_Missense_Mutation_p.T1107A|UBR4_ENST00000375267.2_Missense_Mutation_p.T1107A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1107			T -> A (in dbSNP:rs16862578).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1107A(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGATGGTGGTACAGTCGATA	0.418													T|||	694	0.138578	0.2814	0.1671	5008	,	,		21057	0.0109		0.164	False		,,,				2504	0.0307				p.T1107A		Atlas-SNP	.											UBR4,NS,carcinoma,0,1	UBR4	415	1	1	Substitution - Missense(1)	stomach(1)	c.A3319G						PASS	.	T	ALA/THR	1102,3304	397.4+/-330.4	127,848,1228	90	85	87		3319	4.8	1	1	dbSNP_123	87	1407,7193	272.4+/-290.1	116,1175,3009	yes	missense	UBR4	NM_020765.2	58	243,2023,4237	CC,CT,TT		16.3605,25.0113,19.2911	benign	1107/5184	19499560	2509,10497	2203	4300	6503	SO:0001583	missense	23352	exon25			TGGTGGTACAGTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3319A>G	1.37:g.19499560T>C	ENSP00000364403:p.Thr1107Ala	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	76	54	0.710526	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	330	0.1510989010989011	132	0.2682926829268293	70	0.19337016574585636	7	0.012237762237762238	121	0.15963060686015831	T	15.15	2.747935	0.49257	0.250113	0.163605	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.95	4.82	0.62117	.	0.165648	0.52532	N	0.000069	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	9	0.45353	T	0.12	.	6.8415	0.23965	0.134:0.0711:0.0:0.7948	rs16862578;rs52813973;rs16862578	1107	Q5T4S7	UBR4_HUMAN	A	1107;1107;1107;1107;323	ENSP00000364403:T1107A;ENSP00000364416:T1107A;ENSP00000364365:T1107A;ENSP00000364374:T1107A	ENSP00000364365:T1107A	T	-	1	0	UBR4	19372147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.726000	0.61986	1.075000	0.40932	0.533000	0.62120	ACC	T|0.826;C|0.174	0.174	strong		0.418	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19499560	T	C	19499560	3	2	23	1	0	0	0	0	1	0	0	0	16901	1638	57	2	12560	2	UBR4	1	19499560	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	66111	19499560	229751061	63	16519										
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19566881	19566881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggacacaccaggacagcCtcatccaccacaccacaggc	7	18	2	0	rs12084825	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19566881C>T	ENST00000477853.1	-	7	738	c.696G>A	c.(694-696)gaG>gaA	p.E232E	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.E210E|EMC1_ENST00000375199.3_Silent_p.E232E	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	232						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCAGGACAGCCTCATCCACCA	0.542													C|||	430	0.0858626	0.1051	0.1455	5008	,	,		17569	0.001		0.166	False		,,,				2504	0.0225				p.E232E		Atlas-SNP	.											.	.	.	.	0			c.G696A						PASS	.	C		477,3929	223.9+/-240.3	18,441,1744	109	98	102		696	-1.4	1	1	dbSNP_120	102	1399,7201	271.1+/-289.3	115,1169,3016	no	coding-synonymous	KIAA0090	NM_015047.1		133,1610,4760	TT,TC,CC		16.2674,10.8261,14.4241		232/994	19566881	1876,11130	2203	4300	6503	SO:0001819	synonymous_variant	23065	exon7			GACAGCCTCATCC		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.696G>A	1.37:g.19566881C>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	116	91	0.784483	NM_001271427	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	CCDS190.1																																																																																			C|0.864;T|0.136	0.136	strong		0.542	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19566881	C	T	19566881	2	4	23	1	0	0	0	0	0	0	0	1	8153	680	24	2		2	KIAA0090	1	19566881	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	67321	19566881	229683740	64	16520										
MRTO4	51154	hgsc.bcm.edu	37	chr1	19584004	19584004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaccaaccgcacaaaggaGgaggtgaatgagtaagtact	11	8	1	2	rs1042380	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19584004G>A	ENST00000330263.4	+	5	627	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	110					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCACAAAGGAGGAGGTGAATG	0.527													G|||	1259	0.251398	0.4932	0.183	5008	,	,		22095	0.1012		0.2266	False		,,,				2504	0.1534				p.E110E	GBM(192;2418 3032 7540 48714)	Atlas-SNP	.											.	MRTO4	17	.	0			c.G330A						PASS	.	G		2091,2315	572.9+/-383.4	505,1081,617	147	142	144		330	-3.3	1	1	dbSNP_86	144	2104,6496	363.1+/-333.0	263,1578,2459	no	coding-synonymous	MRTO4	NM_016183.3		768,2659,3076	AA,AG,GG		24.4651,47.458,32.2543		110/240	19584004	4195,8811	2203	4300	6503	SO:0001819	synonymous_variant	51154	exon5			AAAGGAGGAGGTG	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.330G>A	1.37:g.19584004G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	27	18	0.666667	NM_016183	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																			G|0.711;A|0.289	0.289	strong		0.527	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		A	19584004	G	A	19584004	2	1	23	1	0	0	0	0	0	0	0	1	9852	991	35	2		2	MRTO4	1	19584004	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17123	19584004	229666617	65	16521										
AKR7A3	22977	hgsc.bcm.edu	37	chr1	19612477	19612477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttggagaggccaagctccaCgaacttgccctgctcaggtg	13	12	1	1	rs2231198	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19612477C>T	ENST00000361640.4	-	3	952	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	138			V -> M (in dbSNP:rs2231198). {ECO:0000269|PubMed:10383892, ECO:0000269|PubMed:15489334}.		cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGCTCCACGAACTTGCCC	0.612													C|||	2320	0.463259	0.3646	0.5432	5008	,	,		19169	0.6905		0.3817	False		,,,				2504	0.3896				p.V138M		Atlas-SNP	.											.	AKR7A3	30	.	0			c.G412A						PASS	.	C	MET/VAL	1614,2784		319,976,904	58	54	55		412	3	1	1	dbSNP_98	55	3110,5490		564,1982,1754	no	missense	AKR7A3	NM_012067.2	21	883,2958,2658	TT,TC,CC		36.1628,36.6985,36.3441	benign	138/332	19612477	4724,8274	2199	4300	6499	SO:0001583	missense	22977	exon3			GCTCCACGAACTT	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.412G>A	1.37:g.19612477C>T	ENSP00000355377:p.Val138Met	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	132	32	0.242424	NM_012067	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	CCDS193.1	1072	0.4908424908424908	187	0.3800813008130081	194	0.5359116022099447	411	0.7185314685314685	280	0.36939313984168864	.	6.831	0.522560	0.13066	0.366985	0.361628	ENSG00000162482	ENST00000361640	T	0.23348	1.91	3.04	3.04	0.35103	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.00012	0.0000	M	0.82823	2.61	0.41505	P	0.011692999999999953	B	0.32543	0.375	B	0.24974	0.057	T	0.34453	-0.9828	9	0.41790	T	0.15	.	5.9087	0.19016	0.0:0.8521:0.0:0.1479	rs2231198;rs11539611;rs13374777;rs17852954;rs59246333	138	O95154	ARK73_HUMAN	M	138	ENSP00000355377:V138M	ENSP00000355377:V138M	V	-	1	0	AKR7A3	19485064	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.346000	0.44027	1.542000	0.49330	0.194000	0.17425	GTG	C|0.603;T|0.397	0.397	strong		0.612	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		T	19612477	C	T	19612477	3	4	23	1	0	0	0	0	1	0	0	0	476	536	19	1	603	1	AKR7A3	1	19612477	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28473	19612477	229638144	66	16522										
AKR7A2	8574	hgsc.bcm.edu	37	chr1	19635011	19635011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggggtgccgtggtcaggtgCgtgtaggtagaagaggtcca	19	7	1	2	rs1043657	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:19635011C>T	ENST00000235835.3	-	2	445	c.424G>A	c.(424-426)Gca>Aca	p.A142T		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	142			A -> T (in dbSNP:rs1043657). {ECO:0000269|PubMed:18752886, ECO:0000269|PubMed:9576847}.		carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGGTGCGTGTAGGTAG	0.617													C|||	188	0.0375399	0.0257	0.0605	5008	,	,		18086	0.003		0.0974	False		,,,				2504	0.0112				p.A142T		Atlas-SNP	.											.	AKR7A2	19	.	0			c.G424A						PASS	.	C	THR/ALA	136,4270	97.6+/-136.3	4,128,2071	78	77	77		424	0.9	0	1	dbSNP_86	77	806,7794	188.3+/-235.3	41,724,3535	yes	missense	AKR7A2	NM_003689.2	58	45,852,5606	TT,TC,CC		9.3721,3.0867,7.2428	possibly-damaging	142/360	19635011	942,12064	2203	4300	6503	SO:0001583	missense	8574	exon2			CAGGTGCGTGTAG	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.424G>A	1.37:g.19635011C>T	ENSP00000235835:p.Ala142Thr	Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	123	94	0.764228	NM_003689	O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	CCDS194.1	108	0.04945054945054945	9	0.018292682926829267	26	0.0718232044198895	0	0.0	73	0.09630606860158311	C	10.15	1.272395	0.23221	0.030867	0.093721	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04275	3.66;3.66	4.09	0.911	0.19343	NADP-dependent oxidoreductase domain (3);	0.220555	0.46442	D	0.000292	T	0.00356	0.0011	M	0.66297	2.02	0.58432	P	5.000000000032756E-6	D;D;D	0.76494	0.998;0.999;0.998	D;D;P	0.67548	0.936;0.952;0.907	T	0.04115	-1.0976	9	0.66056	D	0.02	.	5.664	0.17684	0.1571:0.6414:0.0:0.2014	rs1043657;rs1043657	113;113;142	C9JSL3;B4DZX4;O43488	.;.;ARK72_HUMAN	T	142;132	ENSP00000235835:A142T;ENSP00000339084:A132T	ENSP00000235835:A142T	A	-	1	0	AKR7A2	19507598	0.850000	0.29656	0.001000	0.08648	0.040000	0.13550	2.267000	0.43329	0.384000	0.24942	-0.367000	0.07326	GCA	C|0.938;T|0.062	0.062	strong		0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		T	19635011	C	T	19635011	3	4	23	1	0	0	0	0	1	0	0	0	475	768	27	1	679	1	AKR7A2	1	19635011	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22534	19635011	229615610	67	16523										
OTUD3	23252	hgsc.bcm.edu	37	chr1	20224152	20224152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctgcacatctccagacGgatgtgagtgaggcctcgga	13	12	1	3	rs61769077	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:20224152G>A	ENST00000375120.3	+	4	604	c.603G>A	c.(601-603)acG>acA	p.T201T	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	201					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCAGACGGATGTGAGTG	0.502													G|||	222	0.0443291	0.0681	0.036	5008	,	,		16019	0.0		0.0557	False		,,,				2504	0.0521				p.T201T		Atlas-SNP	.											.	OTUD3	25	.	0			c.G603A						PASS	.	G		253,3697		15,223,1737	93	92	92		603	-11.1	0.2	1	dbSNP_129	92	446,7872		12,422,3725	no	coding-synonymous	OTUD3	NM_015207.1		27,645,5462	AA,AG,GG		5.3619,6.4051,5.6978		201/399	20224152	699,11569	1975	4159	6134	SO:0001819	synonymous_variant	23252	exon4			CCAGACGGATGTG	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.603G>A	1.37:g.20224152G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	58	10	0.172414	NM_015207	O75047	Silent	SNP	ENST00000375120.3	37	CCDS41279.1																																																																																			G|0.950;A|0.050	0.050	strong		0.502	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			A	20224152	G	A	20224152	2	1	23	1	0	0	0	0	0	0	0	1	11313	1103	39	1		1	OTUD3	1	20224152	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	589141	20224152	229026469	68	16524										
MUL1	79594	hgsc.bcm.edu	37	chr1	20827216	20827216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggggtatcacccgggtgatCgcctgtctgcagatagggca	15	10	2	2	rs595980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:20827216C>T	ENST00000264198.3	-	4	1162	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	342					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCGGGTGATCGCCTGTCTGC	0.557													C|||	357	0.0712859	0.0272	0.1023	5008	,	,		19030	0.001		0.1988	False		,,,				2504	0.0501				p.A342A		Atlas-SNP	.											MUL1,colon,carcinoma,-1,1	MUL1	34	1	0			c.G1026A						PASS	.	C		280,4126	154.4+/-187.8	12,256,1935	71	71	71		1026	-0.7	0.7	1	dbSNP_83	71	1750,6850	315.0+/-312.1	164,1422,2714	no	coding-synonymous	MUL1	NM_024544.2		176,1678,4649	TT,TC,CC		20.3488,6.355,15.6082		342/353	20827216	2030,10976	2203	4300	6503	SO:0001819	synonymous_variant	79594	exon4			GGTGATCGCCTGT	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.1026G>A	1.37:g.20827216C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	85	24	0.282353	NM_024544	B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	CCDS208.1																																																																																			C|0.864;T|0.136	0.136	strong		0.557	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		T	20827216	C	T	20827216	2	4	23	1	0	0	0	0	0	0	0	1	9984	871	31	1		1	MUL1	1	20827216	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	603064	20827216	228423405	69	16525										
ALPL	249	hgsc.bcm.edu	37	chr1	21894735	21894735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagagcttcaaaccgagaTacaaggtagcctgtgctggg	14	8	1	2	rs3200254	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:21894735T>C	ENST00000374840.3	+	7	1037	c.787T>C	c.(787-789)Tac>Cac	p.Y263H	ALPL_ENST00000374832.1_Missense_Mutation_p.Y263H|ALPL_ENST00000539907.1_Missense_Mutation_p.Y186H|ALPL_ENST00000374830.1_5'Flank|ALPL_ENST00000425315.2_Missense_Mutation_p.Y263H|ALPL_ENST00000540617.1_Missense_Mutation_p.Y208H	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	263			Y -> H (common polymorphism; dbSNP:rs3200254). {ECO:0000269|PubMed:11855933, ECO:0000269|PubMed:1409720, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2928120, ECO:0000269|PubMed:9781036}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAAACCGAGATACAAGGTAGC	0.557													C|||	1337	0.266973	0.2655	0.268	5008	,	,		18511	0.4534		0.1203	False		,,,				2504	0.227				p.Y263H		Atlas-SNP	.											.	ALPL	50	.	0			c.T787C	GRCh37	CM980072	ALPL	M	rs3200254	PASS	.	C	HIS/TYR,HIS/TYR,HIS/TYR	1109,3297	718.2+/-408.8	138,833,1232	71	64	67		787,622,556	1.9	0.9	1	dbSNP_105	67	956,7644	775.1+/-407.7	48,860,3392	yes	missense,missense,missense	ALPL	NM_000478.4,NM_001127501.2,NM_001177520.1	83,83,83	186,1693,4624	CC,CT,TT		11.1163,25.1702,15.8773	benign,benign,benign	263/525,208/470,186/448	21894735	2065,10941	2203	4300	6503	SO:0001583	missense	249	exon7			CCGAGATACAAGG	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.787T>C	1.37:g.21894735T>C	ENSP00000363973:p.Tyr263His	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	66	48	0.727273	NM_000478	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	609	0.27884615384615385	136	0.2764227642276423	94	0.2596685082872928	282	0.493006993006993	97	0.1279683377308707	C	0.016	-1.521911	0.00967	0.251702	0.111163	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	3.97	1.91	0.25777	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.579699	0.19198	N	0.120256	T	0.00012	0.0000	N	0.11789	0.175	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.36672	-0.9738	9	0.13108	T	0.6	-6.9786	0.7701	0.01022	0.2758:0.3727:0.149:0.2026	rs3200254;rs3738099;rs17433800;rs52825308;rs59928547;rs3738099	186;211;263	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	H	186;208;263;263;263	ENSP00000437674:Y186H;ENSP00000442672:Y208H;ENSP00000363973:Y263H;ENSP00000363965:Y263H;ENSP00000394765:Y263H	ENSP00000363965:Y263H	Y	+	1	0	ALPL	21767322	0.005000	0.15991	0.875000	0.34327	0.500000	0.33767	-0.042000	0.12063	0.462000	0.27095	-0.215000	0.12644	TAC	A|0.131;C|0.169	0.169	strong		0.557	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		C	21894735	T	C	21894735	3	2	23	1	0	0	0	0	1	0	0	0	547	1406	49	2	809	2	ALPL	1	21894735	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1067519	21894735	227355886	70	16526										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21940555	21940555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaaggtggccgagggcagCgtccagtgagtagtaattga	16	7	0	2	rs2275363	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:21940555C>T	ENST00000374765.4	-	8	519	c.319G>A	c.(319-321)Gct>Act	p.A107T	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A107T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A171T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A138T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A107T	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	107			A -> T (in dbSNP:rs2275363). {ECO:0000269|PubMed:1904317}.		GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCGAGGGCAGCGTCCAGTGAG	0.597													T|||	1968	0.392971	0.3646	0.2781	5008	,	,		18116	0.4196		0.4443	False		,,,				2504	0.4325				p.A171T		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.G511A						PASS	.	T	THR/ALA,THR/ALA,THR/ALA	1614,2792	659.9+/-400.6	288,1038,877	79	68	72		319,511,319	-1.5	1	1	dbSNP_100	72	3919,4681	600.8+/-394.3	893,2133,1274	yes	missense,missense,missense	RAP1GAP	NM_002885.2,NM_001145658.1,NM_001145657.1	58,58,58	1181,3171,2151	TT,TC,CC		45.5698,36.6319,42.5419	benign,benign,benign	107/664,171/728,107/682	21940555	5533,7473	2203	4300	6503	SO:0001583	missense	5909	exon8			GGGCAGCGTCCAG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.319G>A	1.37:g.21940555C>T	ENSP00000363897:p.Ala107Thr	Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	74	71	0.959459	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	879	0.4024725274725275	173	0.3516260162601626	107	0.2955801104972376	259	0.4527972027972028	340	0.44854881266490765	T	10.96	1.498257	0.26861	0.366319	0.455698	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27	4.82	-1.45	0.08828	.	0.647253	0.15734	N	0.247262	T	0.00012	0.0000	L	0.52573	1.65	0.80722	P	0.0	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.22591	-1.0212	9	0.15952	T	0.53	-27.1196	10.5468	0.45064	0.0:0.5514:0.0:0.4486	rs2275363;rs58221509;rs2275363	107;107;138;107	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	T	171;138;107;107;138;107;171;249	ENSP00000290101:A171T;ENSP00000363893:A138T;ENSP00000441661:A107T;ENSP00000363897:A107T;ENSP00000352739:A171T	ENSP00000290101:A171T	A	-	1	0	RAP1GAP	21813142	0.000000	0.05858	0.951000	0.38953	0.989000	0.77384	-1.035000	0.03564	-0.517000	0.06461	-0.361000	0.07541	GCT	C|0.587;T|0.413	0.413	strong		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21940555	C	T	21940555	3	4	23	1	0	0	0	0	1	0	0	0	13037	768	27	1	1822	1	RAP1GAP	1	21940555	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45820	21940555	227310066	71	16527										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21976289	21976289	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagtgaaggacttgtccacCctgaaacacaacaagagggg	12	9	0	3	rs141127873	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:21976289C>T	ENST00000374765.4	-	0	53				RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000290101.4_Splice_Site_p.G15G|RAP1GAP_ENST00000374757.3_5'UTR	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACTTGTCCACCCTGAAACACA	0.592													C|||	17	0.00339457	0.0008	0.0072	5008	,	,		16650	0.0		0.008	False		,,,				2504	0.0031				p.G15G		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.G45A						PASS	.	C	,,	7,2927		0,7,1460	67	65	65		,45,	2.4	1	1	dbSNP_134	65	75,6603		0,75,3264	yes	utr-5,coding-synonymous-near-splice,utr-5	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	0,82,4724	TT,TC,CC		1.1231,0.2386,0.8531	,,	,15/728,	21976289	82,9530	1467	3339	4806	SO:0001623	5_prime_UTR_variant	5909	exon2			GTCCACCCTGAAA	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.-148G>A	1.37:g.21976289C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	163	42	0.257669	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			C|0.996;T|0.004	0.004	strong		0.592	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21976289	C	T	21976289	1	4	23	0	1	0	0	0	0	0	0	0	13037	637	22	2		2	RAP1GAP	1	21976289	5'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	35734	21976289	227274332	72	16528										
EPHA8	2046	hgsc.bcm.edu	37	chr1	22915753	22915753	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcccccagcttcccctgccTcagacccatccagggatcag	8	19	2	1	rs606002	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:22915753T>C	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.S457P|EPHA8_ENST00000374644.4_Missense_Mutation_p.S457P	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCCCTGCCTCAGACCCATC	0.672													C|||	2413	0.481829	0.7126	0.3761	5008	,	,		17459	0.2907		0.3777	False		,,,				2504	0.5491				p.S457P		Atlas-SNP	.											.	EPHA8	221	.	0			c.T1369C						PASS	.	C	PRO/SER,	2884,1520	454.2+/-350.6	938,1008,256	34	36	36		1369,	-0.5	0	1	dbSNP_83	36	3067,5533	632.9+/-398.7	536,1995,1769	yes	missense,intron	EPHA8	NM_001006943.1,NM_020526.3	74,	1474,3003,2025	CC,CT,TT		35.6628,34.5141,45.7628	,	457/496,	22915753	5951,7053	2202	4300	6502	SO:0001627	intron_variant	2046	exon5			CCTGCCTCAGACC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+54T>C	1.37:g.22915753T>C		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_001006943	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	931	0.42628205128205127	338	0.6869918699186992	141	0.38950276243093923	167	0.291958041958042	285	0.3759894459102902	C	7.448	0.641996	0.14451	0.654859	0.356628	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01335	5.0;5.0	1.67	-0.495	0.12030	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.02950	-1.1090	6	.	.	.	.	2.7548	0.05290	0.0:0.3927:0.2509:0.3564	rs606002;rs61099646;rs606002	457	P29322-2	.	P	457	ENSP00000363775:S457P;ENSP00000440274:S457P	.	S	+	1	0	EPHA8	22788340	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.993000	0.03720	-0.528000	0.06366	-0.971000	0.02607	TCA	T|0.543;C|0.457	0.457	strong		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		C	22915753	T	C	22915753	1	2	23	0	1	0	0	0	0	0	0	0	5173	1551	54	3		3	EPHA8	1	22915753	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	939464	22915753	226334868	73	16529										
EPHA8	2046	hgsc.bcm.edu	37	chr1	22919904	22919904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggagcccgagcagccgaaCggcatcatcctggagtatga	13	12	1	1	rs209696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:22919904C>T	ENST00000166244.3	+	6	1473	c.1401C>T	c.(1399-1401)aaC>aaT	p.N467N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	467	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCAGCCGAACGGCATCATCC	0.672													C|||	1684	0.336262	0.3918	0.353	5008	,	,		15063	0.1726		0.2664	False		,,,				2504	0.4898				p.N467N		Atlas-SNP	.											.	EPHA8	221	.	0			c.C1401T						PASS	.	C		1655,2741		329,997,872	22	21	21		1401	-3.7	1	1	dbSNP_79	21	2104,6486		271,1562,2462	no	coding-synonymous	EPHA8	NM_020526.3		600,2559,3334	TT,TC,CC		24.4936,37.6479,28.9466		467/1006	22919904	3759,9227	2198	4295	6493	SO:0001819	synonymous_variant	2046	exon6			GCCGAACGGCATC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1401C>T	1.37:g.22919904C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	143	34	0.237762	NM_020526	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																			C|0.706;T|0.294	0.294	strong		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22919904	C	T	22919904	2	4	23	1	0	0	0	0	0	0	0	1	5173	535	19	1		1	EPHA8	1	22919904	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4151	22919904	226330717	74	16530										
C1QA	712	hgsc.bcm.edu	37	chr1	22965438	22965438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcccagcggccccctcggAgcccgtggcatcccgggaat	15	17	0	0	rs172378	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:22965438A>G	ENST00000374642.3	+	3	480	c.276A>G	c.(274-276)ggA>ggG	p.G92G	C1QA_ENST00000402322.1_Silent_p.G92G	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	92	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCCCCTCGGAGCCCGTGGCA	0.662													G|||	3087	0.616414	0.7905	0.5965	5008	,	,		14379	0.6111		0.3956	False		,,,				2504	0.6278				p.G92G		Atlas-SNP	.											.	C1QA	31	.	0			c.A276G						PASS	.	G		3110,1270		1153,804,233	11	15	14		276	-2.6	0	1	dbSNP_79	14	3215,5367		655,1905,1731	no	coding-synonymous	C1QA	NM_015991.2		1808,2709,1964	GG,GA,AA		37.4621,28.9954,48.7965		92/246	22965438	6325,6637	2190	4291	6481	SO:0001819	synonymous_variant	712	exon3			CCTCGGAGCCCGT	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.276A>G	1.37:g.22965438A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	57	9	0.157895	NM_015991	B2R4X2|Q5T963	Silent	SNP	ENST00000374642.3	37	CCDS226.1	1278	0.5851648351648352	396	0.8048780487804879	211	0.5828729281767956	367	0.6416083916083916	304	0.40105540897097625	G	0.191	-1.053646	0.01965	0.710046	0.374621	ENSG00000173372	ENST00000339353	.	.	.	5.48	-2.62	0.06152	.	0.948505	0.08607	N	0.920650	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999274	.	.	.	.	.	.	T	0.43653	-0.9378	5	0.02654	T	1	0.056	0.3476	0.00343	0.2294:0.1928:0.2583:0.3196	rs172378;rs647404;rs3767552;rs17852737;rs17886668;rs60395382	.	.	.	G	90	.	ENSP00000341271:E90G	E	+	2	0	C1QA	22838025	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.296000	0.08287	-0.601000	0.05783	-0.215000	0.12644	GAG	A|0.431;C|0.013	.	strong		0.662	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		G	22965438	A	G	22965438	2	3	23	1	0	0	0	0	0	0	0	1	1954	291	11	3		3	C1QA	1	22965438	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	45534	22965438	226285183	75	16531										
ASAP3	55616	hgsc.bcm.edu	37	chr1	23763449	23763449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaaggtgagtgactgcatGcgcgaaaagcgcacgcccag	13	12	0	2	rs115515935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:23763449G>A	ENST00000336689.3	-	15	1475	c.1431C>T	c.(1429-1431)cgC>cgT	p.R477R	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Silent_p.R468R	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	477	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGACTGCATGCGCGAAAAGC	0.652													G|||	250	0.0499201	0.0121	0.0605	5008	,	,		11498	0.0		0.1044	False		,,,				2504	0.089				p.R477R		Atlas-SNP	.											.	ASAP3	65	.	0			c.C1431T						PASS	.	G	,	118,4286		4,110,2088	20	22	21		1404,1431	2.5	1	1	dbSNP_132	21	841,7755		39,763,3496	no	coding-synonymous,coding-synonymous	ASAP3	NM_001143778.1,NM_017707.3	,	43,873,5584	AA,AG,GG		9.7836,2.6794,7.3769	,	468/895,477/904	23763449	959,12041	2202	4298	6500	SO:0001819	synonymous_variant	55616	exon15			CTGCATGCGCGAA	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1431C>T	1.37:g.23763449G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	90	71	0.788889	NM_017707	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	CCDS235.1																																																																																			G|0.932;A|0.068	0.068	strong		0.652	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		A	23763449	G	A	23763449	2	1	23	1	0	0	0	0	0	0	0	1	1012	1306	46	2		2	ASAP3	1	23763449	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	798011	23763449	225487172	76	16532										
CNR2	1269	hgsc.bcm.edu	37	chr1	24201262	24201262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcacagcatggagcagaaAgcaaaggccttcttgacctg	12	10	1	2	rs2502993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24201262A>G	ENST00000374472.4	-	2	1007	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CNR2_ENST00000536471.1_Silent_p.A282A	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	282					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A282A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TGGAGCAGAAAGCAAAGGCCT	0.572													G|||	3272	0.653355	0.7943	0.6383	5008	,	,		22050	0.502		0.5875	False		,,,				2504	0.6973				p.A282A		Atlas-SNP	.											CNR2_ENST00000374472,NS,carcinoma,-2,3	CNR2	78	3	1	Substitution - coding silent(1)	stomach(1)	c.T846C						PASS	.	G		3310,1096	395.8+/-329.8	1261,788,154	92	82	85		846	1.3	1	1	dbSNP_100	85	4934,3666	526.1+/-380.9	1402,2130,768	no	coding-synonymous	CNR2	NM_001841.2		2663,2918,922	GG,GA,AA		42.6279,24.8752,36.6139		282/361	24201262	8244,4762	2203	4300	6503	SO:0001819	synonymous_variant	1269	exon2			GCAGAAAGCAAAG	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.846T>C	1.37:g.24201262A>G		Somatic	169	1	0.00591716		WXS	Illumina HiSeq	Phase_I	96	94	0.979167	NM_001841	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																			A|0.359;G|0.641	0.641	strong		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		G	24201262	A	G	24201262	2	3	23	1	0	0	0	0	0	0	0	1	3632	59	3	3		3	CNR2	1	24201262	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	437813	24201262	225049359	77	16533										
CNR2	1269	hgsc.bcm.edu	37	chr1	24201448	24201448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtggccagacaagctggcCacatgctgatgggccttcca	13	12	0	2	rs3003336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24201448C>T	ENST00000374472.4	-	2	821	c.660G>A	c.(658-660)gtG>gtA	p.V220V	CNR2_ENST00000536471.1_Silent_p.V220V	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	220					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.V220V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	ACAAGCTGGCCACATGCTGAT	0.572													T|||	3272	0.653355	0.7943	0.6383	5008	,	,		23489	0.502		0.5875	False		,,,				2504	0.6973				p.V220V		Atlas-SNP	.											CNR2,NS,carcinoma,0,1	CNR2	78	1	1	Substitution - coding silent(1)	stomach(1)	c.G660A						PASS	.	T		3313,1093	393.7+/-329.0	1263,787,153	64	59	61		660	2.2	1	1	dbSNP_101	61	4940,3660	523.3+/-380.3	1408,2124,768	no	coding-synonymous	CNR2	NM_001841.2		2671,2911,921	TT,TC,CC		42.5581,24.8071,36.5447		220/361	24201448	8253,4753	2203	4300	6503	SO:0001819	synonymous_variant	1269	exon2			GCTGGCCACATGC	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.660G>A	1.37:g.24201448C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_001841	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																			C|0.364;T|0.636	0.636	strong		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		T	24201448	C	T	24201448	2	4	23	1	0	0	0	0	0	0	0	1	3632	581	21	2		2	CNR2	1	24201448	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	186	24201448	225049173	78	16534										
CNR2	1269	hgsc.bcm.edu	37	chr1	24201919	24201919	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgagggcttccggcggagTtggtgggaggacaggatcag					rs35761398|rs2502992	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24201919T>C	ENST00000374472.4	-	2	350	c.189A>G	c.(187-189)caA>caG	p.Q63Q	CNR2_ENST00000536471.1_Silent_p.Q63Q	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	63			Q -> R (high incidence in Japanese depressed subjects; dbSNP:rs2501432). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18286196}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.Q63Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCCGGCGGAGTTGGTGGGAGG	0.552													C|||	3275	0.653954	0.7958	0.6383	5008	,	,		19878	0.503		0.5875	False		,,,				2504	0.6973				p.Q63Q		Atlas-SNP	.											CNR2,NS,carcinoma,-1,2	CNR2	78	2	1	Substitution - coding silent(1)	stomach(1)	c.A189G						PASS	.	C		3214,1192		1261,692,250	60	70	67		189	3	1	1	dbSNP_100	67	4758,3842		1403,1952,945	no	coding-synonymous	CNR2	NM_001841.2		2664,2644,1195	CC,CT,TT		44.6744,27.054,38.7052		63/361	24201919	7972,5034	2203	4300	6503	SO:0001819	synonymous_variant	1269	exon2			GCGGAGTTGGTGG	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.189A>G	1.37:g.24201919T>C		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	84	82	0.97619	NM_001841	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																			CC|1.000;|0.000	.	alt		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		C	24201919	T	C	24201919	2	2	23	1	0	0	0	0	0	0	0	1	3632	1722	60	2		2	CNR2	1	24201919	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	471	24201919	225048702	79	16535	359	2								
CNR2	1269	hgsc.bcm.edu	37	chr1	24201920	24201920	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagggcttccggcggagtTggtgggaggacaggatcaga					rs35761398|rs2501432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24201920T>C	ENST00000374472.4	-	2	349	c.188A>G	c.(187-189)cAa>cGa	p.Q63R	CNR2_ENST00000536471.1_Missense_Mutation_p.Q63R	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	63			Q -> R (high incidence in Japanese depressed subjects; dbSNP:rs2501432). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18286196}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.Q63R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CCGGCGGAGTTGGTGGGAGGA	0.557													C|||	3272	0.653355	0.7943	0.6383	5008	,	,		20063	0.502		0.5875	False		,,,				2504	0.6973				p.Q63R		Atlas-SNP	.											CNR2,NS,carcinoma,0,2	CNR2	78	2	1	Substitution - Missense(1)	stomach(1)	c.A188G						PASS	.	C	ARG/GLN	3208,1198		1258,692,253	61	71	68		188	5.1	0.9	1	dbSNP_100	68	4732,3868		1403,1926,971	yes	missense	CNR2	NM_001841.2	43	2661,2618,1224	CC,CT,TT		44.9767,27.1902,38.9513	benign	63/361	24201920	7940,5066	2203	4300	6503	SO:0001583	missense	1269	exon2			CGGAGTTGGTGGG	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.188A>G	1.37:g.24201920T>C	ENSP00000363596:p.Gln63Arg	Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	87	84	0.965517	NM_001841	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	1127	0.5160256410256411	298	0.6056910569105691	203	0.5607734806629834	271	0.4737762237762238	355	0.4683377308707124	C	0.013	-1.626255	0.00813	0.728098	0.550233	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.70749	-0.51;-0.51	6.04	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.527042	0.20481	N	0.091487	T	0.00012	0.0000	N	0.01134	-0.995	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	0.11182	T	0.66	.	8.6774	0.34187	0.0:0.7287:0.0:0.2713	rs2501432	63	P34972	CNR2_HUMAN	R	63	ENSP00000363596:Q63R;ENSP00000442830:Q63R	ENSP00000363596:Q63R	Q	-	2	0	CNR2	24074507	0.286000	0.24305	0.910000	0.35882	0.091000	0.18340	1.434000	0.34958	1.585000	0.49928	-0.215000	0.12644	CAA	T|0.468;C|0.532	0.532	strong		0.557	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		C	24201920	T	C	24201920	3	2	23	1	0	0	0	0	1	0	0	0	3632	1812	63	2	898	2	CNR2	1	24201920	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1	24201920	225048701	80	16536	359	2								
IL22RA1	58985	hgsc.bcm.edu	37	chr1	24447943	24447943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgcataggatgggggcccGacctcaggggcagcgtttgg	19	9	1	0	rs34967816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24447943G>A	ENST00000270800.1	-	7	1115	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	359					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATGGGGGCCCGACCTCAGGGG	0.617													G|||	587	0.117212	0.2186	0.062	5008	,	,		17802	0.003		0.0974	False		,,,				2504	0.1575				p.V359V		Atlas-SNP	.											.	IL22RA1	62	.	0			c.C1077T						PASS	.	G		850,3556	335.7+/-304.0	90,670,1443	89	98	95		1077	-0.9	0	1	dbSNP_126	95	845,7755	193.4+/-239.1	39,767,3494	no	coding-synonymous	IL22RA1	NM_021258.3		129,1437,4937	AA,AG,GG		9.8256,19.2919,13.0324		359/575	24447943	1695,11311	2203	4300	6503	SO:0001819	synonymous_variant	58985	exon7			GGGCCCGACCTCA	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1077C>T	1.37:g.24447943G>A		Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	85	80	0.941176	NM_021258	A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																			G|0.880;A|0.120	0.120	strong		0.617	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			A	24447943	G	A	24447943	2	1	23	1	0	0	0	0	0	0	0	1	7673	1045	37	1		1	IL22RA1	1	24447943	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	246023	24447943	224802678	81	16537										
C1orf201	90529	hgsc.bcm.edu	37	chr1	24706269	24706269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgatgggatagtgtatgcAttcgctgcagggtatttaga	13	6	0	1	rs1064842	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24706269A>G	ENST00000374409.1	-	5	590	c.336T>C	c.(334-336)aaT>aaC	p.N112N	STPG1_ENST00000337248.4_Silent_p.N112N|STPG1_ENST00000003583.8_Silent_p.N65N|STPG1_ENST00000440416.1_Silent_p.N65N|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	112					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TAGTGTATGCATTCGCTGCAG	0.418													G|||	2099	0.419129	0.4894	0.5101	5008	,	,		20086	0.4444		0.3618	False		,,,				2504	0.2924				p.N112N		Atlas-SNP	.											C1orf201_ENST00000374409,colon,carcinoma,0,2	.	.	2	0			c.T336C						PASS	.	G	,,,	2182,2224	589.8+/-387.2	536,1110,557	100	100	100		336,336,60,195	-7.3	0	1	dbSNP_86	100	2936,5664	668.7+/-402.6	467,2002,1831	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C1orf201	NM_001199012.1,NM_001199013.1,NM_001199014.1,NM_178122.4	,,,	1003,3112,2388	GG,GA,AA		34.1395,49.5234,39.3511	,,,	112/335,112/335,20/243,65/288	24706269	5118,7888	2203	4300	6503	SO:0001819	synonymous_variant	90529	exon5			GTATGCATTCGCT	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.336T>C	1.37:g.24706269A>G		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	85	55	0.647059	NM_001199012	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Silent	SNP	ENST00000374409.1	37	CCDS55581.1	947	0.4336080586080586	241	0.4898373983739837	172	0.47513812154696133	249	0.4353146853146853	285	0.3759894459102902	G	1.081	-0.667099	0.03428	0.495234	0.341395	ENSG00000001460	ENST00000435187	.	.	.	5.9	-7.34	0.01427	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	8.000000000008E-6	.	.	.	.	.	.	T	0.02081	-1.1217	3	.	.	.	-27.1846	18.1247	0.89581	0.3522:0.0:0.6478:0.0	rs1064842;rs3765429;rs10314500;rs59501254;rs1064842	.	.	.	T	89	.	.	M	-	2	0	C1orf201	24578856	0.010000	0.17322	0.000000	0.03702	0.270000	0.26580	-1.203000	0.03019	-1.966000	0.01009	-2.223000	0.00295	ATG	A|0.589;G|0.411	0.411	strong		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		G	24706269	A	G	24706269	2	3	23	1	0	0	0	0	0	0	0	1	2027	214	8	2		2	C1orf201	1	24706269	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	258326	24706269	224544352	82	16538										
NIPAL3	57185	hgsc.bcm.edu	37	chr1	24785393	24785393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaggtttttgagtcaagcCtcacagatgtacgactcctc	9	10	2	3	rs2272935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:24785393C>T	ENST00000374399.4	+	9	1157	c.789C>T	c.(787-789)gcC>gcT	p.A263A	NIPAL3_ENST00000339255.2_Silent_p.A263A|NIPAL3_ENST00000003912.3_Silent_p.A181A	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	263						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGAGTCAAGCCTCACAGATGT	0.463													C|||	1534	0.30631	0.1589	0.4409	5008	,	,		20800	0.4534		0.2773	False		,,,				2504	0.2883				p.A263A		Atlas-SNP	.											NIPAL3,NS,carcinoma,+1,1	NIPAL3	36	1	0			c.C789T						scavenged	.	C		704,3702	295.0+/-283.4	49,606,1548	215	176	189		789	1.6	1	1	dbSNP_100	189	2253,6347	382.3+/-340.3	281,1691,2328	no	coding-synonymous	NIPAL3	NM_020448.4		330,2297,3876	TT,TC,CC		26.1977,15.9782,22.7357		263/407	24785393	2957,10049	2203	4300	6503	SO:0001819	synonymous_variant	57185	exon9			TCAAGCCTCACAG	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.789C>T	1.37:g.24785393C>T		Somatic	188	2	0.0106383		WXS	Illumina HiSeq	Phase_I	124	95	0.766129	NM_020448	A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	CCDS30631.1	697	0.3191391941391941	77	0.1565040650406504	148	0.4088397790055249	260	0.45454545454545453	212	0.2796833773087071	C	16.35	3.098373	0.56183	0.159782	0.261977	ENSG00000001461	ENST00000432012	.	.	.	5.86	1.62	0.23740	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.45862	-0.9232	3	.	.	.	-24.4414	1.4986	0.02471	0.2365:0.43:0.1193:0.2142	rs2272935;rs52791624;rs58306533;rs2272935	.	.	.	L	75	.	.	P	+	2	0	NIPAL3	24657980	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.530000	0.23036	0.366000	0.24427	0.563000	0.77884	CCT	C|0.732;T|0.268	0.268	strong		0.463	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		T	24785393	C	T	24785393	2	4	23	1	0	0	0	0	0	0	0	1	10426	668	24	2		2	NIPAL3	1	24785393	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	79124	24785393	224465228	83	16539										
CNKSR1	10256	hgsc.bcm.edu	37	chr1	26515956	26515956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actccacagaacagtcccccCactccctgccctctgaccct	4	22	1	2	rs1045105	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:26515956C>A	ENST00000374253.5	+	21	2119	c.2080C>A	c.(2080-2082)Cac>Aac	p.H694N	CNKSR1_ENST00000531191.1_Missense_Mutation_p.H429N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687N|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	694				H -> N (in Ref. 1; AAC80558). {ECO:0000305}.	Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.H687Y(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCCCCCACTCCCTGCC	0.637													C|||	591	0.118011	0.0779	0.0821	5008	,	,		17563	0.0962		0.1223	False		,,,				2504	0.2157				p.H687N	NSCLC(180;1396 2109 28270 30756 34275)	Atlas-SNP	.											CNKSR1,colon,carcinoma,0,3	CNKSR1	66	3	1	Substitution - Missense(1)	kidney(1)	c.C2059A						PASS	.	C	ASN/HIS	384,4022	191.6+/-217.2	38,308,1857	132	134	133		2059	2.8	0	1	dbSNP_86	133	1162,7438	237.9+/-269.6	87,988,3225	yes	missense	CNKSR1	NM_006314.2	68	125,1296,5082	AA,AC,CC		13.5116,8.7154,11.8868	benign	687/714	26515956	1546,11460	2203	4300	6503	SO:0001583	missense	10256	exon21			TCCCCCCACTCCC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.2080C>A	1.37:g.26515956C>A	ENSP00000363371:p.His694Asn	Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	162	31	0.191358	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		212	0.09706959706959707	41	0.08333333333333333	31	0.0856353591160221	57	0.09965034965034965	83	0.10949868073878628	C	4.741	0.137816	0.09032	0.087154	0.135116	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.13538	2.59;2.6;2.58	4.66	2.77	0.32553	.	1.288580	0.04684	N	0.412844	T	0.00109	0.0003	L	0.44542	1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	9	0.27082	T	0.32	-0.9495	6.9902	0.24751	0.1255:0.6606:0.1346:0.0793	rs1045105;rs3184920;rs57946802;rs1045105	694;687	Q969H4;Q53GM7	CNKR1_HUMAN;.	N	687;694;429	ENSP00000354609:H687N;ENSP00000363371:H694N;ENSP00000431817:H429N	ENSP00000354609:H687N	H	+	1	0	CNKSR1	26388543	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	0.030000	0.13688	0.660000	0.30964	-0.808000	0.03180	CAC	A|0.120;C|0.880;T|0.000	0.120	strong		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		A	26515956	C	A	26515956	3	1	23	1	0	0	0	0	1	0	0	0	3606	594	21	4	2141	4	CNKSR1	1	26515956	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1730563	26515956	222734665	84	16540										
CATSPER4	378807	hgsc.bcm.edu	37	chr1	26527863	26527863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggattgtggaggaggtgcgCgcaatccgcttcaaccagga	15	9	1	0	rs17163674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:26527863C>T	ENST00000456354.2	+	9	1285	c.1218C>T	c.(1216-1218)cgC>cgT	p.R406R		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	406					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGGTGCGCGCAATCCGCT	0.627													C|||	450	0.0898562	0.0121	0.0764	5008	,	,		17973	0.0972		0.1193	False		,,,				2504	0.1667				p.R406R		Atlas-SNP	.											.	CATSPER4	59	.	0			c.C1218T						PASS	.	C		112,4294	86.3+/-125.0	2,108,2093	67	62	64		1218	1.6	1	1	dbSNP_123	64	1165,7435	238.3+/-269.8	86,993,3221	no	coding-synonymous	CATSPER4	NM_198137.1		88,1101,5314	TT,TC,CC		13.5465,2.542,9.8185		406/473	26527863	1277,11729	2203	4300	6503	SO:0001819	synonymous_variant	378807	exon9			GGTGCGCGCAATC	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1218C>T	1.37:g.26527863C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	113	32	0.283186	NM_198137	A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	CCDS30645.1																																																																																			C|0.906;T|0.094	0.094	strong		0.627	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		T	26527863	C	T	26527863	2	4	23	1	0	0	0	0	0	0	0	1	2690	755	27	1		1	CATSPER4	1	26527863	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11907	26527863	222722758	85	16541										
AIM1L	55057	hgsc.bcm.edu	37	chr1	26650661	26650661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctggttcttcagcagcccAtcctcgtagtaccagatgca	8	14	2	1	rs41305769	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:26650661A>G	ENST00000308182.5	-	17	2013	c.1584T>C	c.(1582-1584)gaT>gaC	p.D528D	AIM1L_ENST00000527815.1_Silent_p.D699D			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGCAGCCCATCCTCGTAGT	0.612													A|||	116	0.0231629	0.0023	0.0259	5008	,	,		17087	0.001		0.0388	False		,,,				2504	0.0562				p.D1573D		Atlas-SNP	.											.	AIM1L	98	.	0			c.T4719C						PASS	.	A		33,4373	37.6+/-69.7	0,33,2170	104	93	97		4719	-7.3	0.9	1	dbSNP_127	97	389,8211	124.8+/-183.5	10,369,3921	no	coding-synonymous	AIM1L	NM_001039775.3		10,402,6091	GG,GA,AA		4.5233,0.749,3.2447		1573/1662	26650661	422,12584	2203	4300	6503	SO:0001819	synonymous_variant	55057	exon18			CAGCCCATCCTCG			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1584T>C	1.37:g.26650661A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	50	14	0.28	NM_001039775	B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37																																																																																				A|0.972;G|0.028	0.028	strong		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		G	26650661	A	G	26650661	2	3	23	1	0	0	0	0	0	0	0	1	431	214	8	2		2	AIM1L	1	26650661	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	122798	26650661	222599960	86	16542										
SFN	2810	hgsc.bcm.edu	37	chr1	27190149	27190149	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcattgactcagcccggtCagcctaccaggaggccatgg	11	14	3	1	rs78707984		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:27190149C>T	ENST00000339276.4	+	1	517	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCAGCCCGGTCAGCCTACCAG	0.602																																					p.S149L		Atlas-SNP	.											.	SFN	20	.	0			c.C446T						PASS	.	C	LEU/SER	0,4406		0,0,2203	85	83	84		446	5.1	0.7	1	dbSNP_131	84	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SFN	NM_006142.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	149/249	27190149	2,13004	2203	4300	6503	SO:0001583	missense	2810	exon1			CCCGGTCAGCCTA	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.446C>T	1.37:g.27190149C>T	ENSP00000340989:p.Ser149Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	11	0.268293	NM_006142	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	CCDS288.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858571	0.32791	0.0	2.33E-4	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.43688	0.94	6.06	5.1	0.69264	14-3-3 domain (4);	0.906876	0.09400	N	0.807339	T	0.20780	0.0500	N	0.02368	-0.58	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05402	-1.0887	10	0.25751	T	0.34	-0.5242	11.3178	0.49403	0.1716:0.7101:0.1183:0.0	.	149	P31947	1433S_HUMAN	L	149;117	ENSP00000340989:S149L	ENSP00000340989:S149L	S	+	2	0	SFN	27062736	0.144000	0.22641	0.733000	0.30861	0.993000	0.82548	2.150000	0.42254	2.871000	0.98454	0.655000	0.94253	TCA	.	.	weak		0.602	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		T	27190149	C	T	27190149	3	4	23	1	0	0	0	0	1	0	0	0	14159	838	29	2	448	2	SFN	1	27190149	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	539488	27190149	222060472	87	16543										
SFN	2810	hgsc.bcm.edu	37	chr1	27190196	27190196	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaagaaggagatgccgcccAccaaccccatccgcctgggc	11	17	0	2	rs77755255		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:27190196A>T	ENST00000339276.4	+	1	564	c.493A>T	c.(493-495)Acc>Tcc	p.T165S		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GATGCCGCCCACCAACCCCAT	0.617																																					p.T165S		Atlas-SNP	.											.	SFN	20	.	0			c.A493T						PASS	.						90	84	86					1																	27190196		2203	4300	6503	SO:0001583	missense	2810	exon1			CCGCCCACCAACC	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.493A>T	1.37:g.27190196A>T	ENSP00000340989:p.Thr165Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	37	6	0.162162	NM_006142	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	CCDS288.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919577	0.92249	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.46819	0.86	5.91	5.91	0.95273	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.89715	3.055	0.36736	D	0.881953	D	0.53885	0.963	D	0.65443	0.935	T	0.83349	-0.0004	10	0.87932	D	0	-45.3648	16.0112	0.80404	1.0:0.0:0.0:0.0	.	165	P31947	1433S_HUMAN	S	165;133	ENSP00000340989:T165S	ENSP00000340989:T165S	T	+	1	0	SFN	27062783	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.335000	0.96500	2.255000	0.74692	0.533000	0.62120	ACC	.	.	weak		0.617	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		T	27190196	A	T	27190196	3	4	23	1	0	0	0	0	1	0	0	0	14159	159	6	5	495	5	SFN	1	27190196	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47	27190196	222060425	88	16544										
SYTL1	84958	hgsc.bcm.edu	37	chr1	27676925	27676925	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gataagcagagcaagcgcaaGacggcggtgaagaaacggaa	15	7	0	4	rs6702341	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:27676925G>A	ENST00000543823.1	+	9	1416	c.954G>A	c.(952-954)aaG>aaA	p.K318K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.K306K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	318	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAGCGCAAGACGGCGGTGA	0.597													G|||	1226	0.244808	0.1392	0.2089	5008	,	,		15790	0.1786		0.3787	False		,,,				2504	0.3436				p.K318K		Atlas-SNP	.											.	SYTL1	57	.	0			c.G954A						PASS	.	G	,	745,3661	304.6+/-288.6	66,613,1524	115	101	106		954,918	3.9	1	1	dbSNP_116	106	3233,5367	488.6+/-372.4	618,1997,1685	no	coding-synonymous,coding-synonymous	SYTL1	NM_001193308.1,NM_032872.2	,	684,2610,3209	AA,AG,GG		37.593,16.9088,30.5859	,	318/563,306/551	27676925	3978,9028	2203	4300	6503	SO:0001819	synonymous_variant	84958	exon10			GCGCAAGACGGCG	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.954G>A	1.37:g.27676925G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	39	30	0.769231	NM_001193308	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	CCDS53286.1	546	0.25	72	0.14634146341463414	78	0.2154696132596685	100	0.17482517482517482	296	0.39050131926121373	G	11.12	1.546023	0.27652	0.169088	0.37593	ENSG00000142765	ENST00000496001	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.46789	-0.9166	3	.	.	.	-18.2362	6.0715	0.19891	0.2147:0.0:0.7853:0.0	rs6702341	.	.	.	K	166	.	.	R	+	2	0	SYTL1	27549512	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	0.998000	0.29744	2.155000	0.67459	0.462000	0.41574	AGA	G|0.711;A|0.289	0.289	strong		0.597	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		A	27676925	G	A	27676925	2	1	23	1	0	0	0	0	0	0	0	1	15479	933	33	2		2	SYTL1	1	27676925	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	486729	27676925	221573696	89	16545										
SYTL1	84958	hgsc.bcm.edu	37	chr1	27679797	27679797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgctgcctgatgacagccAggccagccgccagcgtacaa	12	15	0	2	rs3813795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:27679797A>G	ENST00000543823.1	+	13	1829	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.Q444R			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	456	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.			Q -> R (in Ref. 1; AAK67636 and 4; AAH09224). {ECO:0000305}.	exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATGACAGCCAGGCCAGCCGC	0.622													G|||	2415	0.482228	0.3495	0.4294	5008	,	,		17413	0.25		0.6819	False		,,,				2504	0.7331				p.Q456R		Atlas-SNP	.											.	SYTL1	57	.	0			c.A1367G						PASS	.	G	ARG/GLN,ARG/GLN	1815,2591		364,1087,752	40	34	36		1367,1331	2.7	1	1	dbSNP_107	36	5980,2620		2098,1784,418	yes	missense,missense	SYTL1	NM_001193308.1,NM_032872.2	43,43	2462,2871,1170	GG,GA,AA		30.4651,41.1938,40.0661	benign,benign	456/563,444/551	27679797	7795,5211	2203	4300	6503	SO:0001583	missense	84958	exon14			ACAGCCAGGCCAG	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1367A>G	1.37:g.27679797A>G	ENSP00000440704:p.Gln456Arg	Somatic	204	2	0.00980392		WXS	Illumina HiSeq	Phase_I	150	149	0.993333	NM_001193308	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	1009	0.461996336996337	180	0.36585365853658536	162	0.44751381215469616	150	0.26223776223776224	517	0.6820580474934037	G	4.608	0.112983	0.08831	0.411938	0.695349	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.06608	3.28;3.28	5.57	2.68	0.31781	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.275589	0.35970	N	0.002873	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29971	-0.9994	9	0.02654	T	1	-27.6108	4.7453	0.13035	0.3872:0.1479:0.4649:0.0	rs3813795;rs11553996;rs17348927;rs60548466;rs3813795	456;444	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	R	444;456	ENSP00000316464:Q444R;ENSP00000440704:Q456R	ENSP00000316464:Q444R	Q	+	2	0	SYTL1	27552384	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.946000	0.29069	0.327000	0.23409	-0.215000	0.12644	CAG	A|0.473;G|0.527	0.527	strong		0.622	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		G	27679797	A	G	27679797	3	3	23	1	0	0	0	0	1	0	0	0	15479	188	7	3	1381	3	SYTL1	1	27679797	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2872	27679797	221570824	90	16546										
XKR8	55113	hgsc.bcm.edu	37	chr1	28290155	28290155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagacggcaccacagctcacGctggtgctggccatcatgct	12	14	2	1	rs142513353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:28290155G>A	ENST00000373884.5	+	2	1049	c.441G>A	c.(439-441)acG>acA	p.T147T	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	147					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CACAGCTCACGCTGGTGCTGG	0.627													G|||	10	0.00199681	0.0	0.0043	5008	,	,		17805	0.0		0.007	False		,,,				2504	0.0				p.T147T		Atlas-SNP	.											.	XKR8	15	.	0			c.G441A						PASS	.	G		3,4403	4.2+/-10.8	0,3,2200	23	20	21		441	-1.9	1	1	dbSNP_134	21	31,8569	19.8+/-62.0	0,31,4269	no	coding-synonymous	XKR8	NM_018053.2		0,34,6469	AA,AG,GG		0.3605,0.0681,0.2614		147/396	28290155	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	55113	exon2			GCTCACGCTGGTG	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.441G>A	1.37:g.28290155G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	128	16	0.125	NM_018053		Silent	SNP	ENST00000373884.5	37	CCDS315.1																																																																																			G|0.997;A|0.003	0.003	strong		0.627	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		A	28290155	G	A	28290155	2	1	23	1	0	0	0	0	0	0	0	1	17434	1074	38	1		1	XKR8	1	28290155	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	610358	28290155	220960466	91	16547										
EYA3	2140	hgsc.bcm.edu	37	chr1	28304899	28304899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttacctgtttggctgcaaTttcttcatctcgtccatctc	7	12	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:28304899T>C	ENST00000373871.3	-	17	1867	c.1627A>G	c.(1627-1629)Att>Gtt	p.I543V	EYA3_ENST00000545175.1_Missense_Mutation_p.I490V|EYA3_ENST00000373863.3_Missense_Mutation_p.I497V|EYA3_ENST00000373864.1_Missense_Mutation_p.I386V|EYA3_ENST00000540618.1_Missense_Mutation_p.I497V|EYA3_ENST00000436342.2_Missense_Mutation_p.I417V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	543					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGCTGCAATTTCTTCATCT	0.368																																					p.I543V		Atlas-SNP	.											.	EYA3	38	.	0			c.A1627G						PASS	.						207	200	202					1																	28304899		2203	4300	6503	SO:0001583	missense	2140	exon17			CTGCAATTTCTTC	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1627A>G	1.37:g.28304899T>C	ENSP00000362978:p.Ile543Val	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	155	40	0.258065	NM_001990	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	8.394	0.840482	0.16891	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.54	5.54	0.83059	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.254205	0.46145	D	0.000317	T	0.77805	0.4185	N	0.22421	0.69	0.28710	N	0.903603	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.67074	-0.5762	10	0.28530	T	0.3	-12.8991	10.8241	0.46622	0.0:0.0757:0.0:0.9243	.	497;497;543	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	543;417;386;497;490;497	ENSP00000362978:I543V;ENSP00000405587:I417V;ENSP00000362971:I386V;ENSP00000442558:I497V;ENSP00000442280:I490V;ENSP00000362970:I497V	ENSP00000362970:I497V	I	-	1	0	EYA3	28177486	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.160000	0.42348	2.107000	0.64212	0.402000	0.26972	ATT	.	.	none		0.368	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		C	28304899	T	C	28304899	3	2	23	1	0	0	0	0	1	0	0	0	5330	1493	52	2	102	2	EYA3	1	28304899	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14744	28304899	220945722	92	16548										
PTPRU	10076	hgsc.bcm.edu	37	chr1	29618535	29618535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacccatggctacagcaccCggggtgagtgcccggccctc	12	17	0	1	rs558954146		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:29618535C>T	ENST00000345512.3	+	16	2632	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	PTPRU_ENST00000356870.3_Missense_Mutation_p.R825W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R825W|PTPRU_ENST00000323874.8_Missense_Mutation_p.R825W|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R825W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R825W	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	835	Mediates interaction with CTNNB1. {ECO:0000250}.		R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R835W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACAGCACCCGGGGTGAGTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16905	0.0		0.0	False		,,,				2504	0.001				p.R835W		Atlas-SNP	.											PTPRU_ENST00000460170,colon,carcinoma,0,4	PTPRU	374	4	1	Substitution - Missense(1)	large_intestine(1)	c.C2503T						scavenged	.						47	47	47					1																	29618535		2203	4300	6503	SO:0001583	missense	10076	exon16			AGCACCCGGGGTG	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2503C>T	1.37:g.29618535C>T	ENSP00000334941:p.Arg835Trp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	59	2	0.0338983	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941831	0.73557	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35421	1.33;1.37;1.37;1.37;1.31;1.37	4.99	1.96	0.26148	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.62723	1.935	0.46874	D	0.999231	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.69479	0.964;0.93;0.964;0.852;0.92	T	0.38499	-0.9658	9	.	.	.	.	6.5859	0.22620	0.3216:0.5948:0.0:0.0836	.	825;825;825;825;835	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	W	835;825;825;825;825;825	ENSP00000334941:R835W;ENSP00000362884:R825W;ENSP00000349333:R825W;ENSP00000314987:R825W;ENSP00000392332:R825W;ENSP00000432906:R825W	.	R	+	1	2	PTPRU	29491122	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.620000	0.24403	0.576000	0.29452	0.655000	0.94253	CGG	.	.	none		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29618535	C	T	29618535	3	4	23	1	0	0	0	0	1	0	0	0	12813	643	23	1	2565	1	PTPRU	1	29618535	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1313636	29618535	219632086	93	16549										
PTPRU	10076	hgsc.bcm.edu	37	chr1	29630455	29630455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccggaagggctccccataCcacacggggcagctgcaccc	13	17	0	0	rs2295061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:29630455C>T	ENST00000345512.3	+	17	2724	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	PTPRU_ENST00000356870.3_Silent_p.Y855Y|PTPRU_ENST00000373779.3_Silent_p.Y855Y|PTPRU_ENST00000323874.8_Silent_p.Y855Y|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.Y855Y|PTPRU_ENST00000460170.2_Silent_p.Y855Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	865	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTCCCCATACCACACGGGGC	0.662													C|||	1879	0.3752	0.3533	0.3329	5008	,	,		16610	0.6419		0.1581	False		,,,				2504	0.3834				p.Y865Y		Atlas-SNP	.											.	PTPRU	374	.	0			c.C2595T						PASS	.	C	,,,	1402,3004	440.8+/-346.1	220,962,1021	45	49	48		2565,2595,2565,2565	-2.5	0.7	1	dbSNP_100	48	1224,7376	240.8+/-271.4	85,1054,3161	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	,,,	305,2016,4182	TT,TC,CC		14.2326,31.8202,20.1907	,,,	855/1434,865/1447,855/1441,855/1437	29630455	2626,10380	2203	4300	6503	SO:0001819	synonymous_variant	10076	exon17			CCCATACCACACG	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2595C>T	1.37:g.29630455C>T		Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	213	61	0.286385	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																			C|0.746;T|0.254	0.254	strong		0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29630455	C	T	29630455	2	4	23	1	0	0	0	0	0	0	0	1	12813	518	18	2		2	PTPRU	1	29630455	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11920	29630455	219620166	94	16550										
SDC3	9672	hgsc.bcm.edu	37	chr1	31347399	31347399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccggaacctctggctcatCccggattgtggtcaggaagg	13	12	3	0	rs4949184	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:31347399C>T	ENST00000339394.6	-	4	1081	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SDC3_ENST00000336798.7_Missense_Mutation_p.D245N|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	303			D -> N (in dbSNP:rs4949184). {ECO:0000269|PubMed:11527150}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTCATCCCGGATTGTG	0.587													C|||	1174	0.234425	0.3782	0.1628	5008	,	,		18096	0.0665		0.1799	False		,,,				2504	0.32				p.D303N		Atlas-SNP	.											.	SDC3	45	.	0			c.G907A						PASS	.	C	ASN/ASP	1367,3039	454.0+/-350.5	217,933,1053	108	106	107		907	4.7	1	1	dbSNP_111	107	1565,7035	292.4+/-300.8	137,1291,2872	yes	missense	SDC3	NM_014654.3	23	354,2224,3925	TT,TC,CC		18.1977,31.0259,22.5434	probably-damaging	303/443	31347399	2932,10074	2203	4300	6503	SO:0001583	missense	9672	exon4			GCTCATCCCGGAT	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.907G>A	1.37:g.31347399C>T	ENSP00000344468:p.Asp303Asn	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	51	37	0.72549	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	CCDS30661.1	385	0.1762820512820513	180	0.36585365853658536	56	0.15469613259668508	24	0.04195804195804196	125	0.16490765171503957	C	19.78	3.890788	0.72524	0.310259	0.181977	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.25414	1.81;1.8	4.7	4.7	0.59300	.	0.266144	0.30809	N	0.008833	T	0.00012	0.0000	N	0.12182	0.205	0.48135	P	4.0200000000001346E-4	B;B	0.13594	0.008;0.008	B;B	0.16289	0.015;0.009	T	0.41680	-0.9495	9	0.36615	T	0.2	-1.9576	6.7554	0.23510	0.0:0.8463:0.0:0.1537	rs4949184;rs57147714;rs4949184	303;245	O75056;D3DPN2	SDC3_HUMAN;.	N	245;303	ENSP00000338346:D245N;ENSP00000344468:D303N	ENSP00000338346:D245N	D	-	1	0	SDC3	31119986	0.715000	0.27946	0.967000	0.41034	0.697000	0.40408	3.045000	0.49838	2.454000	0.82982	0.563000	0.77884	GAT	C|0.795;T|0.205	0.205	strong		0.587	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		T	31347399	C	T	31347399	3	4	23	1	0	0	0	0	1	0	0	0	13953	855	30	2	429	2	SDC3	1	31347399	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1716944	31347399	217903222	95	16551										
BAI2	576	hgsc.bcm.edu	37	chr1	32193185	32193185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgttgggacaagctggggcGctccccagggctgggcttat	16	10	0	0	rs41263977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:32193185G>A	ENST00000373658.3	-	33	4935	c.4594C>T	c.(4594-4596)Cgc>Tgc	p.R1532C	BAI2_ENST00000398542.1_Missense_Mutation_p.R1413C|BAI2_ENST00000398547.1_Missense_Mutation_p.R1446C|BAI2_ENST00000398538.1_Missense_Mutation_p.R1501C|BAI2_ENST00000373655.2_Missense_Mutation_p.R1531C|BAI2_ENST00000257070.4_Missense_Mutation_p.R1498C|BAI2_ENST00000440175.2_Missense_Mutation_p.R1122C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.R1498C|BAI2_ENST00000398556.3_Missense_Mutation_p.R1447C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1532					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AAGCTGGGGCGCTCCCCAGGG	0.612													G|||	12	0.00239617	0.0	0.0	5008	,	,		14744	0.0		0.0089	False		,,,				2504	0.0031				p.R1532C		Atlas-SNP	.											.	BAI2	128	.	0			c.C4594T						PASS	.	G	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	20	20	20		4594	3.3	1	1	dbSNP_127	20	77,8523	44.9+/-103.4	0,77,4223	yes	missense	BAI2	NM_001703.2	180	0,84,6419	AA,AG,GG		0.8953,0.1589,0.6459	probably-damaging	1532/1586	32193185	84,12922	2203	4300	6503	SO:0001583	missense	576	exon33			TGGGGCGCTCCCC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4594C>T	1.37:g.32193185G>A	ENSP00000362762:p.Arg1532Cys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	78	58	0.74359	NM_001703	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	14.71	2.616398	0.46736	0.001589	0.008953	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.48201	3.33;1.62;3.33;3.33;1.8;3.33;3.33;1.46;0.82	4.29	3.3	0.37823	.	0.412552	0.18103	N	0.151610	T	0.47911	0.1471	L	0.52011	1.625	0.39636	D	0.970247	P;D;D;P;D;D	0.76494	0.95;0.999;0.981;0.95;0.999;0.988	B;P;P;B;P;B	0.59825	0.409;0.864;0.608;0.409;0.735;0.295	T	0.58267	-0.7666	10	0.87932	D	0	.	11.0708	0.48002	0.0:0.0:0.8153:0.1847	rs41263977	1498;1520;1122;1531;1532;1501	O60241-4;O60241-3;B4DKC3;O60241-2;O60241;A2A3C2	.;.;.;.;BAI2_HUMAN;.	C	1447;1446;1532;1531;1413;1498;1498;1122;1501	ENSP00000381564:R1447C;ENSP00000381555:R1446C;ENSP00000362762:R1532C;ENSP00000362759:R1531C;ENSP00000381550:R1413C;ENSP00000257070:R1498C;ENSP00000435397:R1498C;ENSP00000391071:R1122C;ENSP00000381548:R1501C	ENSP00000257070:R1498C	R	-	1	0	BAI2	31965772	0.999000	0.42202	0.997000	0.53966	0.941000	0.58515	4.208000	0.58486	2.401000	0.81631	0.561000	0.74099	CGC	G|0.994;A|0.006	0.006	strong		0.612	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32193185	G	A	32193185	3	1	23	1	0	0	0	0	1	0	0	0	1299	1087	38	1	167	1	BAI2	1	32193185	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	845786	32193185	217057436	96	16552										
BAI2	576	hgsc.bcm.edu	37	chr1	32196453	32196453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacggtgcgaggcatggtcCggctgcgctcccctggctcg	16	15	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:32196453C>T	ENST00000373658.3	-	29	4669	c.4328G>A	c.(4327-4329)cGg>cAg	p.R1443Q	BAI2_ENST00000398542.1_Missense_Mutation_p.R1343Q|BAI2_ENST00000398547.1_Missense_Mutation_p.R1376Q|BAI2_ENST00000398538.1_Missense_Mutation_p.R1431Q|BAI2_ENST00000373655.2_Missense_Mutation_p.R1443Q|BAI2_ENST00000257070.4_Missense_Mutation_p.R1410Q|BAI2_ENST00000440175.2_Missense_Mutation_p.R1052Q|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.R1410Q|BAI2_ENST00000398556.3_Missense_Mutation_p.R1358Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1443					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1443Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGGCATGGTCCGGCTGCGCTC	0.632																																					p.R1443Q		Atlas-SNP	.											BAI2,colon,carcinoma,0,1	BAI2	128	1	1	Substitution - Missense(1)	large_intestine(1)	c.G4328A						PASS	.						40	51	47					1																	32196453		2202	4299	6501	SO:0001583	missense	576	exon29			ATGGTCCGGCTGC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4328G>A	1.37:g.32196453C>T	ENSP00000362762:p.Arg1443Gln	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	39	4	0.102564	NM_001703	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729029	0.89390	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.47528	1.52;1.76;0.92;0.92;1.89;0.84;0.84;1.55;0.95	5.74	5.74	0.90152	.	0.000000	0.39274	N	0.001419	T	0.61763	0.2373	L	0.48642	1.525	0.51767	D	0.999934	D;D;D;D;D;D;D	0.89917	0.996;0.996;0.999;1.0;0.996;0.994;1.0	P;P;P;D;P;P;D	0.63957	0.883;0.77;0.743;0.92;0.883;0.594;0.92	T	0.52902	-0.8513	10	0.31617	T	0.26	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	1410;1431;1052;1358;1443;1443;1431	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	Q	1358;1376;1443;1443;1343;1410;1410;1052;1431	ENSP00000381564:R1358Q;ENSP00000381555:R1376Q;ENSP00000362762:R1443Q;ENSP00000362759:R1443Q;ENSP00000381550:R1343Q;ENSP00000257070:R1410Q;ENSP00000435397:R1410Q;ENSP00000391071:R1052Q;ENSP00000381548:R1431Q	ENSP00000257070:R1410Q	R	-	2	0	BAI2	31969040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.447000	0.60020	2.884000	0.98904	0.655000	0.94253	CGG	.	.	none		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32196453	C	T	32196453	3	4	23	1	0	0	0	0	1	0	0	0	1299	652	23	1	449	1	BAI2	1	32196453	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3268	32196453	217054168	97	16553										
TMEM39B	55116	hgsc.bcm.edu	37	chr1	32557486	32557486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccatgcctgctgcctgtcAcccagcctcatccgcagtga	8	18	2	1	rs744455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:32557486A>G	ENST00000336294.5	+	6	947	c.801A>G	c.(799-801)tcA>tcG	p.S267S	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Silent_p.S68S|TMEM39B_ENST00000427288.1_Silent_p.S152S|TMEM39B_ENST00000456834.2_Missense_Mutation_p.T216A	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	267						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTGCCTGTCACCCAGCCTCA	0.602													G|||	1120	0.223642	0.2927	0.232	5008	,	,		20192	0.2351		0.0596	False		,,,				2504	0.2812				p.S267S		Atlas-SNP	.											.	TMEM39B	66	.	0			c.A801G						PASS	.	G		1184,3222	710.3+/-407.9	187,810,1206	87	73	78		801	-10.3	0.5	1	dbSNP_86	78	560,8040	794.2+/-407.5	20,520,3760	no	coding-synonymous	TMEM39B	NM_018056.2		207,1330,4966	GG,GA,AA		6.5116,26.8724,13.4092		267/493	32557486	1744,11262	2203	4300	6503	SO:0001819	synonymous_variant	55116	exon6			CCTGTCACCCAGC	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.801A>G	1.37:g.32557486A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	82	55	0.670732	NM_018056	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Silent	SNP	ENST00000336294.5	37	CCDS351.2	373	0.1707875457875458	147	0.29878048780487804	50	0.13812154696132597	131	0.229020979020979	45	0.059366754617414245	G	13.14	2.148810	0.37923	0.268724	0.065116	ENSG00000121775	ENST00000456834	.	.	.	5.58	-10.3	0.00346	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.25710	-1.0124	4	0.87932	D	0	-7.3393	2.6143	0.04900	0.4687:0.2282:0.1626:0.1406	rs744455;rs58248543;rs744455	.	.	.	A	216	.	ENSP00000390889:T188A	T	+	1	0	TMEM39B	32330073	0.002000	0.14202	0.532000	0.27989	0.963000	0.63663	-1.285000	0.02791	-2.042000	0.00914	-0.733000	0.03571	ACC	A|0.849;G|0.151	0.151	strong		0.602	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		G	32557486	A	G	32557486	2	3	23	1	0	0	0	0	0	0	0	1	16159	146	6	2		2	TMEM39B	1	32557486	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	361033	32557486	216693135	98	16554										
IQCC	55721	hgsc.bcm.edu	37	chr1	32672908	32672908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagaggaaccccgcgtgtTcctagaacatggggaacagg	14	10	0	2	rs3903683	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:32672908T>G	ENST00000291358.6	+	5	647	c.626T>G	c.(625-627)tTc>tGc	p.F209C	IQCC_ENST00000537469.1_Missense_Mutation_p.F289C|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	209			F -> C (in dbSNP:rs3903683). {ECO:0000269|Ref.2}.							endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCGCGTGTTCCTAGAACAT	0.547													G|||	1139	0.227436	0.3056	0.2378	5008	,	,		17838	0.2302		0.0567	False		,,,				2504	0.2873				p.F289C		Atlas-SNP	.											.	IQCC	46	.	0			c.T866G						PASS	.	G	CYS/PHE,CYS/PHE	1285,3121	699.3+/-406.5	211,863,1129	69	69	69		626,866	2.3	0	1	dbSNP_108	69	560,8040	794.2+/-407.5	19,522,3759	yes	missense,missense	IQCC	NM_018134.2,NM_001160042.1	205,205	230,1385,4888	GG,GT,TT		6.5116,29.1648,14.1858	benign,benign	209/467,289/547	32672908	1845,11161	2203	4300	6503	SO:0001583	missense	55721	exon5			GCGTGTTCCTAGA	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.626T>G	1.37:g.32672908T>G	ENSP00000291358:p.Phe209Cys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	110	88	0.8	NM_001160042	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	CCDS355.1	379	0.17353479853479853	152	0.3089430894308943	55	0.15193370165745856	127	0.22202797202797203	45	0.059366754617414245	G	0.013	-1.607113	0.00842	0.291648	0.065116	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.08282	3.11;3.11	3.46	2.32	0.28847	.	0.368381	0.20522	N	0.090682	T	0.00012	0.0000	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44982	-0.9292	9	0.02654	T	1	-0.5815	2.9321	0.05803	0.187:0.0:0.5649:0.2481	rs3903683;rs61163302;rs3903683	289;209	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	C	289;209	ENSP00000442291:F289C;ENSP00000291358:F209C	ENSP00000291358:F209C	F	+	2	0	IQCC	32445495	0.023000	0.18921	0.001000	0.08648	0.011000	0.07611	1.192000	0.32150	0.305000	0.22832	-0.217000	0.12591	TTC	T|0.842;G|0.158	0.158	strong		0.547	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		G	32672908	T	G	32672908	3	3	23	1	0	0	0	0	1	0	0	0	7804	1783	62	5	884	5	IQCC	1	32672908	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	115422	32672908	216577713	99	16555										
FAM167B	84734	hgsc.bcm.edu	37	chr1	32713199	32713199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcctggcgcagggcccaAgccaaacctggaccaggggg	16	14	0	0	rs200422136|rs2291063	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:32713199A>G	ENST00000373582.3	+	1	366	c.177A>G	c.(175-177)caA>caG	p.Q59Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	59										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GCAGGGCCCAAGCCAAACCTG	0.642													a|||	842	0.168131	0.1263	0.2176	5008	,	,		18191	0.255		0.0328	False		,,,				2504	0.2393				p.Q59Q		Atlas-SNP	.											.	FAM167B	18	.	0			c.A177G						PASS	.	A		427,3463		27,373,1545	40	50	47		177	1.1	0	1	dbSNP_100	47	315,7957		8,299,3829	no	coding-synonymous	FAM167B	NM_032648.2		35,672,5374	GG,GA,AA		3.808,10.9769,6.101		59/164	32713199	742,11420	1945	4136	6081	SO:0001819	synonymous_variant	84734	exon1			GGCCCAAGCCAAA	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.177A>G	1.37:g.32713199A>G		Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	117	84	0.717949	NM_032648	Q5TDH6	Silent	SNP	ENST00000373582.3	37	CCDS358.2																																																																																			A|0.870;G|0.130	0.130	strong		0.642	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		G	32713199	A	G	32713199	2	3	23	1	0	0	0	0	0	0	0	1	5484	69	3	3		3	FAM167B	1	32713199	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	40291	32713199	216537422	100	16556										
KIAA1522	57648	hgsc.bcm.edu	37	chr1	33235651	33235651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcgctgagacagaggccAtgctgcagcgccacattgac	13	13	0	3	rs12730560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:33235651A>G	ENST00000373480.1	+	6	797	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.M243V|KIAA1522_ENST00000401073.2_Missense_Mutation_p.M291V	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	232			M -> V (in dbSNP:rs12730560).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACAGAGGCCATGCTGCAGCG	0.701													A|||	732	0.146166	0.2738	0.2291	5008	,	,		14565	0.002		0.1342	False		,,,				2504	0.0757				p.M291V		Atlas-SNP	.											KIAA1522,colon,carcinoma,0,1	KIAA1522	68	1	0			c.A871G						PASS	.	A	,VAL/MET,VAL/MET	954,3190		115,724,1233	24	30	28		,871,694	-3.4	0.9	1	dbSNP_121	28	1100,7316		70,960,3178	yes	intron,missense,missense	KIAA1522	NM_001198973.1,NM_020888.2,NM_001198972.1	,21,21	185,1684,4411	GG,GA,AA		13.0703,23.0212,16.3535	,benign,benign	,291/1095,232/1036	33235651	2054,10506	2072	4208	6280	SO:0001583	missense	57648	exon6			GAGGCCATGCTGC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.694A>G	1.37:g.33235651A>G	ENSP00000362579:p.Met232Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	70	14	0.2	NM_020888	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	318	0.14560439560439561	135	0.27439024390243905	75	0.20718232044198895	0	0.0	108	0.1424802110817942	A	8.480	0.859501	0.17178	0.230212	0.130703	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.27557	1.66;1.66;1.66	4.47	-3.42	0.04825	.	1.518330	0.03681	N	0.245441	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24440	-1.0160	9	0.02654	T	1	-0.0856	6.5649	0.22507	0.3748:0.144:0.4812:0.0	rs12730560;rs61225963;rs12730560	243;232;291	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	V	291;243;232	ENSP00000383851:M291V;ENSP00000362580:M243V;ENSP00000362579:M232V	ENSP00000362579:M232V	M	+	1	0	KIAA1522	33008238	0.010000	0.17322	0.905000	0.35620	0.935000	0.57460	-0.197000	0.09518	-0.456000	0.07043	0.402000	0.26972	ATG	A|0.838;G|0.162	0.162	strong		0.701	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			G	33235651	A	G	33235651	3	3	23	1	0	0	0	0	1	0	0	0	8238	217	8	2	893	2	KIAA1522	1	33235651	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	522452	33235651	216014970	101	16557										
YARS	8565	hgsc.bcm.edu	37	chr1	33245802	33245802	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttgggcacgaactgtacCaggccgctcaccacagtccg	10	16	1	0	rs699005	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:33245802C>G	ENST00000373477.4	-	11	2126	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	406	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGAACTGTACCAGGCCGCTCA	0.582													C|||	438	0.0874601	0.0998	0.1787	5008	,	,		21031	0.001		0.1074	False		,,,				2504	0.0746				p.L406L		Atlas-SNP	.											.	YARS	34	.	0			c.G1218C						PASS	.	C		421,3985	205.2+/-227.1	21,379,1803	223	182	196		1218	2.5	1	1	dbSNP_86	196	864,7736	195.4+/-240.6	40,784,3476	no	coding-synonymous	YARS	NM_003680.3		61,1163,5279	GG,GC,CC		10.0465,9.5552,9.8801		406/529	33245802	1285,11721	2203	4300	6503	SO:0001819	synonymous_variant	8565	exon11			CTGTACCAGGCCG	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1218G>C	1.37:g.33245802C>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	71	14	0.197183	NM_003680	B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	CCDS368.1																																																																																			C|0.899;G|0.101	0.101	strong		0.582	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		G	33245802	C	G	33245802	2	3	23	1	0	0	0	0	0	0	0	1	17464	581	21	4		4	YARS	1	33245802	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10151	33245802	216004819	102	16558										
S100PBP	64766	hgsc.bcm.edu	37	chr1	33292189	33292189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgctctgcttgataaggaCgagactgattcgtccaaaga	11	8	1	4	rs41265867	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:33292189C>T	ENST00000373475.5	+	3	743	c.489C>T	c.(487-489)gaC>gaT	p.D163D	S100PBP_ENST00000373476.1_Silent_p.D163D|S100PBP_ENST00000398243.3_Silent_p.D163D|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGATAAGGACGAGACTGATT	0.378													c|||	29	0.00579073	0.0008	0.0058	5008	,	,		22086	0.0		0.0159	False		,,,				2504	0.0082				p.D163D		Atlas-SNP	.											.	S100PBP	31	.	0			c.C489T						PASS	.	T	,	9,4397	15.5+/-35.6	0,9,2194	69	71	70		489,489	-8.8	0.3	1	dbSNP_127	70	67,8533	40.8+/-97.7	1,65,4234	no	coding-synonymous,coding-synonymous	S100PBP	NM_001017406.1,NM_022753.2	,	1,74,6428	TT,TC,CC		0.7791,0.2043,0.5843	,	163/342,163/409	33292189	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	64766	exon3			TAAGGACGAGACT	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.489C>T	1.37:g.33292189C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	26	20	0.769231	NM_001256121		Silent	SNP	ENST00000373475.5	37	CCDS30666.1																																																																																			C|0.992;T|0.008	0.008	strong		0.378	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		T	33292189	C	T	33292189	2	4	23	1	0	0	0	0	0	0	0	1	13791	535	19	1		1	S100PBP	1	33292189	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	46387	33292189	215958432	103	16559										
PHC2	1912	hgsc.bcm.edu	37	chr1	33790496	33790496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgagcatgctgatgcgggcGtagatcttcagggcgggccc	16	10	2	3	rs11554674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:33790496G>A	ENST00000257118.5	-	14	2600	c.2547C>T	c.(2545-2547)taC>taT	p.Y849Y	PHC2_ENST00000431992.1_Silent_p.Y820Y|PHC2_ENST00000373422.3_Silent_p.Y455Y|PHC2_ENST00000419414.2_Silent_p.Y850Y|PHC2_ENST00000373418.3_Silent_p.Y314Y|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000587696.1_RNA|RP11-415J8.3_ENST00000588828.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	849	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGATGCGGGCGTAGATCTTCA	0.627													G|||	866	0.172923	0.0182	0.1715	5008	,	,		17074	0.2113		0.2416	False		,,,				2504	0.273				p.Y849Y		Atlas-SNP	.											.	PHC2	78	.	0			c.C2547T						PASS	.	G	,	227,4179	134.9+/-171.1	5,217,1981	76	69	71		942,2547	-5.7	0.3	1	dbSNP_120	71	2126,6474	364.7+/-333.6	253,1620,2427	no	coding-synonymous,coding-synonymous	PHC2	NM_004427.3,NM_198040.2	,	258,1837,4408	AA,AG,GG		24.7209,5.1521,18.0917	,	314/324,849/859	33790496	2353,10653	2203	4300	6503	SO:0001819	synonymous_variant	1912	exon14			GCGGGCGTAGATC	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2547C>T	1.37:g.33790496G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	71	25	0.352113	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																			G|0.830;A|0.170	0.170	strong		0.627	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		A	33790496	G	A	33790496	2	1	23	1	0	0	0	0	0	0	0	1	11817	1140	40	1		1	PHC2	1	33790496	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	498307	33790496	215460125	104	16560										
GJB3	2707	hgsc.bcm.edu	37	chr1	35250720	35250720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcgccaagctgtacgacaaCgcaggcaagaagcacggagg	14	11	0	1	rs41310442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:35250720C>T	ENST00000373366.2	+	2	972	c.357C>T	c.(355-357)aaC>aaT	p.N119N	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.N119N	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	119					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTACGACAACGCAGGCAAGA	0.612													c|||	489	0.0976438	0.1051	0.0331	5008	,	,		20994	0.122		0.0457	False		,,,				2504	0.1616				p.N119N		Atlas-SNP	.											.	GJB3	40	.	0			c.C357T						PASS	.		,	439,3967	211.2+/-231.4	25,389,1789	210	215	214		357,357	2.8	0	1	dbSNP_127	214	432,8168	133.6+/-191.1	11,410,3879	no	coding-synonymous,coding-synonymous	GJB3	NM_001005752.1,NM_024009.2	,	36,799,5668	TT,TC,CC		5.0233,9.9637,6.6969	,	119/271,119/271	35250720	871,12135	2203	4300	6503	SO:0001819	synonymous_variant	2707	exon2			CGACAACGCAGGC	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.357C>T	1.37:g.35250720C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	147	99	0.673469	NM_001005752	B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	CCDS384.1																																																																																			C|0.936;T|0.064	0.064	strong		0.612	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		T	35250720	C	T	35250720	2	4	23	1	0	0	0	0	0	0	0	1	6409	535	19	1		1	GJB3	1	35250720	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1460224	35250720	213999901	105	16561										
ZMYM1	79830	hgsc.bcm.edu	37	chr1	35570214	35570214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatctttgcagtaatgcctgCctttcaaagtttcactctgc	6	11	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:35570214C>T	ENST00000373330.1	+	7	825	c.651C>T	c.(649-651)tgC>tgT	p.C217C	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.C217C			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	217						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTAATGCCTGCCTTTCAAAGT	0.353																																					p.C217C		Atlas-SNP	.											ZMYM1,NS,carcinoma,+1,1	ZMYM1	86	1	0			c.C651T						scavenged	.						82	76	78					1																	35570214		2043	4234	6277	SO:0001819	synonymous_variant	79830	exon6			TGCCTGCCTTTCA	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.651C>T	1.37:g.35570214C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_024772	D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																			.	.	none		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		T	35570214	C	T	35570214	2	4	23	1	0	0	0	0	0	0	0	1	17696	747	26	2		2	ZMYM1	1	35570214	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	319494	35570214	213680407	106	16562										
KIAA0319L	79932	hgsc.bcm.edu	37	chr1	35972375	35972375	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatacagcaggtctgagtgcAgctctgggtgggctctgcct	15	10	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:35972375A>T	ENST00000325722.3	-	3	738	c.504T>A	c.(502-504)gcT>gcA	p.A168A		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	168						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCTGAGTGCAGCTCTGGGTG	0.502																																					p.A168A		Atlas-SNP	.											.	KIAA0319L	156	.	0			c.T504A						PASS	.						121	117	118					1																	35972375		2203	4300	6503	SO:0001819	synonymous_variant	79932	exon3			GAGTGCAGCTCTG	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.504T>A	1.37:g.35972375A>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	103	29	0.281553	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.271484	0.01421	.	.	ENSG00000142687	ENST00000431916	.	.	.	5.78	-1.12	0.09808	.	.	.	.	.	T	0.22166	0.0534	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	-0.4253	4.2445	0.10665	0.5279:0.2944:0.0697:0.108	.	.	.	.	S	32	.	.	C	-	1	0	KIAA0319L	35744962	0.905000	0.30787	0.001000	0.08648	0.083000	0.17756	0.332000	0.19751	0.104000	0.17725	0.533000	0.62120	TGC	.	.	none		0.502	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		T	35972375	A	T	35972375	2	4	23	1	0	0	0	0	0	0	0	1	8169	175	7	5		5	KIAA0319L	1	35972375	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	402161	35972375	213278246	107	16563										
MAP7D1	55700	hgsc.bcm.edu	37	chr1	36642420	36642420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccccacgtgcccgcctctcTgccagcaccgcctctgagct	8	21	2	1	rs475591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:36642420T>C	ENST00000373151.2	+	8	1572	c.1356T>C	c.(1354-1356)tcT>tcC	p.S452S	MAP7D1_ENST00000316156.4_Silent_p.S415S|MAP7D1_ENST00000373150.4_Silent_p.S420S|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	452					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCGCCTCTCTGCCAGCACCG	0.642													C|||	3758	0.750399	0.8896	0.781	5008	,	,		11779	0.9137		0.5755	False		,,,				2504	0.5521				p.S452S		Atlas-SNP	.											.	MAP7D1	62	.	0			c.T1356C						PASS	.	C		3491,741		1485,521,110	10	18	16		1356	-10.1	0	1	dbSNP_83	16	4850,3516		1484,1882,817	no	coding-synonymous	MAP7D1	NM_018067.3		2969,2403,927	CC,CT,TT		42.0273,17.5095,33.7911		452/842	36642420	8341,4257	2116	4183	6299	SO:0001819	synonymous_variant	55700	exon8			CCTCTCTGCCAGC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1356T>C	1.37:g.36642420T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	11	8	0.727273	NM_018067	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	CCDS30673.1	1660	0.76007326007326	437	0.8882113821138211	270	0.7458563535911602	523	0.9143356643356644	430	0.5672823218997362	C	8.864	0.947593	0.18356	0.824905	0.579727	ENSG00000116871	ENST00000530975	.	.	.	5.04	-10.1	0.00402	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.21314	-1.0249	3	.	.	.	-15.0184	0.7178	0.00935	0.2173:0.1783:0.2234:0.381	rs475591;rs60771385	.	.	.	R	35	.	.	C	+	1	0	MAP7D1	36415007	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.226000	0.00041	-2.763000	0.00369	-1.032000	0.02404	TGC	T|0.240;C|0.760	0.760	strong		0.642	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		C	36642420	T	C	36642420	2	2	23	1	0	0	0	0	0	0	0	1	9267	1567	55	3		3	MAP7D1	1	36642420	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	670045	36642420	212608201	108	16564										
OSCP1	127700	hgsc.bcm.edu	37	chr1	36886117	36886117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagagattcaaccggaatcCgggctcagggccactgggtt	13	10	2	1	rs2275477	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:36886117C>T	ENST00000356637.5	-	9	1012	c.949G>A	c.(949-951)Gga>Aga	p.G317R	OSCP1_ENST00000433045.2_Missense_Mutation_p.G262R|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000315643.9_Missense_Mutation_p.G317R|OSCP1_ENST00000235532.5_Missense_Mutation_p.G307R|SNORA63_ENST00000364578.1_RNA			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	317				G -> R (in Ref. 2; BAE16984). {ECO:0000305}.	transport (GO:0006810)	plasma membrane (GO:0005886)		p.G317R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						AACCGGAATCCGGGCTCAGGG	0.448											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1267	0.252995	0.32	0.1542	5008	,	,		17032	0.2599		0.2068	False		,,,				2504	0.273				p.G307R		Atlas-SNP	.											OSCP1,NS,carcinoma,0,1	OSCP1	48	1	1	Substitution - Missense(1)	stomach(1)	c.G919A						scavenged	.		ARG/GLY	1378,3028	454.4+/-350.6	210,958,1035	231	242	238		919	5.2	1	1	dbSNP_100	238	1849,6751	331.5+/-319.7	207,1435,2658	yes	missense	OSCP1	NM_145047.4	125	417,2393,3693	TT,TC,CC		21.5,31.2755,24.8116	benign	307/380	36886117	3227,9779	2203	4300	6503	SO:0001583	missense	127700	exon8			GGAATCCGGGCTC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.949G>A	1.37:g.36886117C>T	ENSP00000349052:p.Gly317Arg	Somatic	140	1	0.00714286	866	WXS	Illumina HiSeq	Phase_I	97	68	0.701031	NM_145047	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		503	0.2303113553113553	144	0.2926829268292683	62	0.1712707182320442	144	0.2517482517482518	153	0.20184696569920843	c	16.68	3.191378	0.58017	0.312755	0.215	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000315643	T;T;T;T	0.29917	1.96;1.97;1.55;1.96	6.07	5.17	0.71159	.	0.225932	0.46442	N	0.000284	T	0.00012	0.0000	L	0.57536	1.79	0.25595	P	0.9866586	B;B	0.22851	0.053;0.076	B;B	0.18871	0.023;0.01	T	0.36383	-0.9750	9	0.20046	T	0.44	.	10.6431	0.45604	0.0:0.8556:0.0:0.1444	rs2275477;rs52803946;rs57535488;rs2275477	307;317	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	R	307;317;262;317	ENSP00000235532:G307R;ENSP00000349052:G317R;ENSP00000390820:G262R;ENSP00000314541:G317R	ENSP00000235532:G307R	G	-	1	0	OSCP1	36658704	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	3.762000	0.55250	1.593000	0.50029	0.586000	0.80456	GGA	C|0.755;T|0.245	0.245	strong		0.448	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		T	36886117	C	T	36886117	3	4	23	1	0	0	0	0	1	0	0	0	11286	661	23	1	232	1	OSCP1	1	36886117	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	243697	36886117	212364504	109	16565										
OSCP1	127700	hgsc.bcm.edu	37	chr1	36898067	36898067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccacttgctgcaggatggTtggggagtctcggatgaatc	15	8	1	1	rs34409118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:36898067T>C	ENST00000356637.5	-	4	484	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	141			T -> A (in dbSNP:rs34409118). {ECO:0000269|PubMed:16006562}.		transport (GO:0006810)	plasma membrane (GO:0005886)		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502													T|||	1042	0.208067	0.1604	0.1369	5008	,	,		21091	0.2599		0.2048	False		,,,				2504	0.273				p.T131A		Atlas-SNP	.											OSCP1_ENST00000354267,colon,carcinoma,0,4	OSCP1	48	4	2	Substitution - Missense(2)	stomach(1)|pancreas(1)	c.A391G						PASS	.	T	ALA/THR,ALA/THR	794,3612	317.4+/-295.1	67,660,1476	128	113	118		391,391	-1.4	1	1	dbSNP_126	118	1836,6764	329.8+/-318.9	202,1432,2666	yes	missense,missense	OSCP1	NM_145047.4,NM_206837.2	58,58	269,2092,4142	CC,CT,TT		21.3488,18.0209,20.2214	benign,benign	131/380,131/224	36898067	2630,10376	2203	4300	6503	SO:0001583	missense	127700	exon3			GGATGGTTGGGGA		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.421A>G	1.37:g.36898067T>C	ENSP00000349052:p.Thr141Ala	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	100	80	0.8	NM_145047	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		420	0.19230769230769232	65	0.13211382113821138	58	0.16022099447513813	144	0.2517482517482518	153	0.20184696569920843	T	1.622	-0.521352	0.04171	0.180209	0.213488	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.6	-1.39	0.08997	.	0.615809	0.16766	N	0.200427	T	0.00012	0.0000	N	0.01228	-0.945	0.45914	P	0.0012499999999999734	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37619	-0.9698	9	0.05620	T	0.96	.	7.0272	0.24946	0.0:0.3174:0.1172:0.5655	rs34409118	131;131;141	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	A	131;141;86;101;141;131	ENSP00000235532:T131A;ENSP00000349052:T141A;ENSP00000390820:T86A;ENSP00000396417:T101A;ENSP00000314541:T141A;ENSP00000346216:T131A	ENSP00000235532:T131A	T	-	1	0	OSCP1	36670654	0.980000	0.34600	0.993000	0.49108	0.462000	0.32619	0.340000	0.19892	-0.153000	0.11137	0.533000	0.62120	ACC	T|0.800;C|0.200	0.200	strong		0.502	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		C	36898067	T	C	36898067	3	2	23	1	0	0	0	0	1	0	0	0	11286	1725	60	2	940	2	OSCP1	1	36898067	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11950	36898067	212352554	110	16566										
CSF3R	1441	hgsc.bcm.edu	37	chr1	36937106	36937106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataggccacaagggccacctCctgggcttctgaaggcaggt	13	12	1	1	rs3918019	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:36937106C>T	ENST00000373106.1	-	10	1760	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	CSF3R_ENST00000373103.1_Missense_Mutation_p.E405K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E405K|CSF3R_ENST00000373104.1_Missense_Mutation_p.E405K|CSF3R_ENST00000338937.5_Missense_Mutation_p.E405K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E405K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.E405K|CSF3R_ENST00000361632.4_Missense_Mutation_p.E405K	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	405	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> K (in dbSNP:rs3918019). {ECO:0000269|Ref.4}.		cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGGGCCACCTCCTGGGCTTCT	0.612													C|||	8	0.00159744	0.0	0.0014	5008	,	,		17751	0.0		0.007	False		,,,				2504	0.0				p.E405K		Atlas-SNP	.											.	CSF3R	157	.	0			c.G1213A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	103	111	108		1213,1213,1213	3.3	0.9	1	dbSNP_108	108	37,8563	25.7+/-73.6	1,35,4264	yes	missense,missense,missense	CSF3R	NM_000760.3,NM_156039.3,NM_172313.2	56,56,56	1,38,6464	TT,TC,CC		0.4302,0.0681,0.3076	possibly-damaging,possibly-damaging,possibly-damaging	405/837,405/864,405/784	36937106	40,12966	2203	4300	6503	SO:0001583	missense	1441	exon10			CCACCTCCTGGGC	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1213G>A	1.37:g.36937106C>T	ENSP00000362198:p.Glu405Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	73	50	0.684932	NM_156039		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	15.35	2.808248	0.50421	6.81E-4	0.004302	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.2	3.3	0.37823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.580572	0.20168	N	0.097787	T	0.05686	0.0149	L	0.33485	1.01	0.25352	N	0.988858	P;P;P;B	0.48764	0.915;0.902;0.651;0.028	B;B;B;B	0.36092	0.217;0.194;0.057;0.038	T	0.14952	-1.0454	10	0.06236	T	0.91	-11.2121	7.3658	0.26772	0.0:0.7939:0.0:0.2061	rs3918019;rs3918019	405;405;405;405	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	K	405	ENSP00000362198:E405K;ENSP00000362196:E405K;ENSP00000362195:E405K;ENSP00000355406:E405K;ENSP00000332180:E405K;ENSP00000401588:E405K;ENSP00000345013:E405K;ENSP00000397568:E405K	ENSP00000332180:E405K	E	-	1	0	CSF3R	36709693	0.102000	0.21896	0.923000	0.36655	0.788000	0.44548	1.384000	0.34396	0.561000	0.29186	-0.258000	0.10820	GAG	C|0.996;T|0.004	0.004	strong		0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		T	36937106	C	T	36937106	3	4	23	1	0	0	0	0	1	0	0	0	3937	864	30	2	1519	2	CSF3R	1	36937106	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39039	36937106	212313515	111	16567										
SF3A3	10946	hgsc.bcm.edu	37	chr1	38449910	38449910	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agataacgaccatatccctcTtcatctgtgaactccaccaa	4	14	3	2	rs11210870	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:38449910T>C	ENST00000373019.4	-	6	1354	c.399A>G	c.(397-399)gaA>gaG	p.E133E	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.E80E	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	133					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATATCCCTCTTCATCTGTGA	0.453													T|||	1467	0.292931	0.2511	0.3703	5008	,	,		20157	0.2421		0.2753	False		,,,				2504	0.365				p.E133E		Atlas-SNP	.											.	SF3A3	37	.	0			c.A399G						PASS	.	T		1139,3267	402.6+/-332.4	140,859,1204	115	88	97		399	4.3	1	1	dbSNP_120	97	2495,6105	405.2+/-348.4	341,1813,2146	no	coding-synonymous	SF3A3	NM_006802.2		481,2672,3350	CC,CT,TT		29.0116,25.8511,27.941		133/502	38449910	3634,9372	2203	4300	6503	SO:0001819	synonymous_variant	10946	exon6			TCCCTCTTCATCT	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.399A>G	1.37:g.38449910T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	60	53	0.883333	NM_006802	D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	CCDS428.1																																																																																			T|0.718;C|0.282	0.282	strong		0.453	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		C	38449910	T	C	38449910	2	2	23	1	0	0	0	0	0	0	0	1	14148	1606	56	3		3	SF3A3	1	38449910	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1512804	38449910	210800711	112	16568										
FHL3	2275	hgsc.bcm.edu	37	chr1	38463504	38463504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagacattctcgatgccaCggctgatcacggtatgtcac	9	13	3	2	rs7366048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:38463504C>T	ENST00000373016.3	-	5	708	c.540G>A	c.(538-540)ccG>ccA	p.P180P	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	180	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGATGCCACGGCTGATCAC	0.587													C|||	2883	0.575679	0.6861	0.5202	5008	,	,		20028	0.6756		0.4205	False		,,,				2504	0.5225				p.P180P		Atlas-SNP	.											.	FHL3	9	.	0			c.G540A						PASS	.	C		2872,1534	672.8+/-402.7	950,972,281	77	75	76		540	1.9	1	1	dbSNP_116	76	3598,5002	520.1+/-379.6	732,2134,1434	no	coding-synonymous	FHL3	NM_004468.4		1682,3106,1715	TT,TC,CC		41.8372,34.8162,49.7463		180/281	38463504	6470,6536	2203	4300	6503	SO:0001819	synonymous_variant	2275	exon5			ATGCCACGGCTGA	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.540G>A	1.37:g.38463504C>T		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	88	70	0.795455	NM_004468	D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	CCDS30678.1																																																																																			C|0.477;T|0.523	0.523	strong		0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		T	38463504	C	T	38463504	2	4	23	1	0	0	0	0	0	0	0	1	5880	523	19	1		1	FHL3	1	38463504	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13594	38463504	210787117	113	16569										
GJA9	81025	hgsc.bcm.edu	37	chr1	39340504	39340504	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaggaaccccatgtagctcTaagccaccgcggtttccaat	9	13	1	1	rs41270783	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39340504T>G	ENST00000360786.3	-	1	1519	c.1267A>C	c.(1267-1269)Aga>Cga	p.R423R	RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.R423R|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Silent_p.R423R|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	423					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CATGTAGCTCTAAGCCACCGC	0.507													T|||	347	0.0692891	0.1059	0.0389	5008	,	,		18745	0.001		0.0726	False		,,,				2504	0.1084				p.R423R		Atlas-SNP	.											.	GJA9	55	.	0			c.A1267C						PASS	.	T		364,4042	186.4+/-213.3	15,334,1854	93	92	92		1267	0.6	0	1	dbSNP_127	92	523,8077	147.3+/-202.7	22,479,3799	no	coding-synonymous	GJA9	NM_030772.4		37,813,5653	GG,GT,TT		6.0814,8.2615,6.8199		423/516	39340504	887,12119	2203	4300	6503	SO:0001819	synonymous_variant	81025	exon2			TAGCTCTAAGCCA	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1267A>C	1.37:g.39340504T>G		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	170	35	0.205882	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	CCDS432.1																																																																																			T|0.935;G|0.065	0.065	strong		0.507	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		G	39340504	T	G	39340504	2	3	23	1	0	0	0	0	0	0	0	1	6406	1530	53	5		5	GJA9	1	39340504	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	877000	39340504	209910117	114	16570										
MACF1	23499	hgsc.bcm.edu	37	chr1	39549983	39549983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttacaggagcgagcggtcGgggagcctgtctccctgtcc	14	13	2	0	rs3736890	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39549983G>A	ENST00000372915.3	+	1	180	c.93G>A	c.(91-93)tcG>tcA	p.S31S	MACF1_ENST00000484793.1_Silent_p.S31S|MACF1_ENST00000317713.7_Silent_p.S31S|MACF1_ENST00000602421.1_Silent_p.S31S|MACF1_ENST00000361689.2_Silent_p.S31S|MACF1_ENST00000567887.1_Silent_p.S31S|MACF1_ENST00000539005.1_Silent_p.S31S|MACF1_ENST00000545844.1_Silent_p.S31S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	31	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGAGCGGTCGGGGAGCCTGT	0.607													A|||	492	0.0982428	0.0522	0.111	5008	,	,		17702	0.0456		0.2058	False		,,,				2504	0.0951				p.S31S		Atlas-SNP	.											.	MACF1	909	.	0			c.G93A						PASS	.	A		331,4075	792.9+/-415.2	18,295,1890	63	55	58		93	0	1	1	dbSNP_107	58	1609,6991	740.1+/-407.1	160,1289,2851	no	coding-synonymous	MACF1	NM_012090.4		178,1584,4741	AA,AG,GG		18.7093,7.5125,14.9162		31/5431	39549983	1940,11066	2203	4300	6503	SO:0001819	synonymous_variant	23499	exon3			GCGGTCGGGGAGC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.93G>A	1.37:g.39549983G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	60	16	0.266667	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																				G|0.867;A|0.133	0.133	strong		0.607	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39549983	G	A	39549983	2	1	23	1	0	0	0	0	0	0	0	1	9144	1103	39	1		1	MACF1	1	39549983	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	209479	39549983	209700638	115	16571										
MACF1	23499	hgsc.bcm.edu	37	chr1	39835817	39835817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccacctacggaaacttctAtgagtgctaaagagttagaa	8	8	1	3	rs2296172	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39835817A>G	ENST00000372915.3	+	50	13156	c.13069A>G	c.(13069-13071)Atg>Gtg	p.M4357V	MACF1_ENST00000289893.4_Missense_Mutation_p.M2792V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.M2290V|MACF1_ENST00000361689.2_Missense_Mutation_p.M2290V|MACF1_ENST00000567887.1_Missense_Mutation_p.M4389V|MACF1_ENST00000564288.1_Missense_Mutation_p.M4352V|MACF1_ENST00000539005.1_Missense_Mutation_p.M2290V|MACF1_ENST00000545844.1_Missense_Mutation_p.M2290V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4357			M -> V (in dbSNP:rs2296172). {ECO:0000269|PubMed:10559237}.		ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAACTTCTATGAGTGCTAA	0.433													A|||	592	0.118211	0.0121	0.2046	5008	,	,		20675	0.1587		0.1948	False		,,,				2504	0.0798				p.M2290V		Atlas-SNP	.											.	MACF1	909	.	0			c.A6868G						PASS	.	A	VAL/MET,VAL/MET	194,4212	122.1+/-159.5	1,192,2010	69	68	68		6868,8374	0.3	1	1	dbSNP_100	68	1919,6681	339.9+/-323.4	231,1457,2612	yes	missense,missense	MACF1	NM_012090.4,NM_033044.3	21,21	232,1649,4622	GG,GA,AA		22.314,4.4031,16.2463	benign,benign	2290/5431,2792/5939	39835817	2113,10893	2203	4300	6503	SO:0001583	missense	23499	exon47			ACTTCTATGAGTG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13069A>G	1.37:g.39835817A>G	ENSP00000362006:p.Met4357Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	38	38	1	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		320|320	0.14652014652014653|0.14652014652014653	8|8	0.016260162601626018|0.016260162601626018	76|76	0.20994475138121546|0.20994475138121546	89|89	0.1555944055944056|0.1555944055944056	147|147	0.19393139841688653|0.19393139841688653	A|A	1.600|1.600	-0.526671|-0.526671	0.04141|0.04141	0.044031|0.044031	0.22314|0.22314	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.59364|.	0.3;0.33;0.3;0.27;0.4;1.43|.	5.37|5.37	0.348|0.348	0.16026|0.16026	.|.	0.777656|.	0.11516|.	N|.	0.556259|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	P|P	0.9999999709851|0.9999999709851	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.06405|.	0.002;0.001;0.001;0.002|.	T|T	0.37934|0.37934	-0.9684|-0.9684	9|4	0.06099|.	T|.	0.92|.	.|.	0.2216|0.2216	0.00168|0.00168	0.2976:0.2744:0.1754:0.2526|0.2976:0.2744:0.1754:0.2526	rs2296172;rs57700239;rs2296172|rs2296172;rs57700239;rs2296172	4357;2290;2290;2255|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	V|C	2290;4357;2290;2290;2290;2792|1423	ENSP00000439537:M2290V;ENSP00000362006:M4357V;ENSP00000354573:M2290V;ENSP00000313438:M2290V;ENSP00000444364:M2290V;ENSP00000289893:M2792V|.	ENSP00000289893:M2792V|.	M|Y	+|+	1|2	0|0	MACF1|MACF1	39608404|39608404	0.850000|0.850000	0.29656|0.29656	0.996000|0.996000	0.52242|0.52242	0.949000|0.949000	0.60115|0.60115	0.193000|0.193000	0.17116|0.17116	0.021000|0.021000	0.15133|0.15133	0.533000|0.533000	0.62120|0.62120	ATG|TAT	A|0.855;G|0.145	0.145	strong		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39835817	A	G	39835817	3	3	23	1	0	0	0	0	1	0	0	0	9144	449	16	2	13201	2	MACF1	1	39835817	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	285834	39835817	209414804	116	16572										
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39879340	39879340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagcccgcctccccagctGctgcagtgcccaccccagag	11	19	0	1	rs141110458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39879340G>C	ENST00000530275.1	+	1	3190	c.2995G>C	c.(2995-2997)Gct>Cct	p.A999P	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	999	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCCCAGCTGCTGCAGTGCC	0.711													G|||	13	0.00259585	0.0	0.0029	5008	,	,		10576	0.001		0.006	False		,,,				2504	0.0041				p.A1135P		Atlas-SNP	.											.	KIAA0754	93	.	0			c.G3403C						PASS	.	G	,PRO/ALA,	5,3513		0,5,1754	6	9	8		,3403,	0.2	0	1	dbSNP_134	8	77,7935		0,77,3929	no	intron,missense,intron	MACF1,KIAA0754	NM_012090.4,NM_015038.1,NM_033044.3	,27,	0,82,5683	CC,CG,GG		0.9611,0.1421,0.7112	,probably-damaging,	,1135/1428,	39879340	82,11448	1759	4006	5765	SO:0001583	missense	643314	exon1			CCAGCTGCTGCAG			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2995G>C	1.37:g.39879340G>C	ENSP00000431179:p.Ala999Pro	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	61	37	0.606557	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		22	0.010073260073260074	7	0.014227642276422764	5	0.013812154696132596	7	0.012237762237762238	3	0.00395778364116095	G	13.78	2.338002	0.41398	0.001421	0.009611	ENSG00000255103	ENST00000530275	T	0.24151	1.87	4.56	0.241	0.15494	.	.	.	.	.	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	P	0.54706	0.759	T	0.10337	-1.0634	9	0.25751	T	0.34	.	2.6328	0.04949	0.0953:0.1583:0.4215:0.3249	.	999	O94854	K0754_HUMAN	P	999	ENSP00000431179:A999P	ENSP00000431179:A999P	A	+	1	0	RP4-562N20.1	39651927	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.456000	0.06754	0.200000	0.20447	0.498000	0.49722	GCT	G|0.990;C|0.010	0.010	strong		0.711	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		C	39879340	G	C	39879340	3	2	23	1	0	0	0	0	1	0	0	0	8192	1319	46	4	3405	4	KIAA0754	1	39879340	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43523	39879340	209371281	117	16573										
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39879397	39879435	+	In_Frame_Del	DEL	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctgcagtgcccaccccaGaggaatccgcctccgcagct					rs371382486|rs55976345|rs541496808|rs199726261|rs548996855|rs112569629|rs201613510	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39879397_39879435delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	ENST00000530275.1	+	1	3247_3285	c.3052_3090delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	c.(3052-3090)gaggaatccgcctccgcagctgttgcagtgcccacccccdel	p.EESASAAVAVPTP1018del	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1018	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCCACCCCAGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCCGAGGAATCTG	0.682																																					p.1153_1166del		Pindel	.											.	KIAA0754	93	.	0			c.3459_3497del						PASS	.		,,	832,2850		248,336,1257					,,	0	0			18	1888,6000		448,992,2504	no	intron,coding,intron	MACF1,KIAA0754	NM_033044.3,NM_015038.1,NM_012090.4	,,	696,1328,3761	A1A1,A1R,RR		23.9351,22.5964,23.5091	,,	,,		2720,8850				SO:0001651	inframe_deletion	643314	exon1			.			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3052_3090delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	1.37:g.39879397_39879435delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	ENSP00000431179:p.Glu1018_Pro1030del	Somatic	197	.	.		WXS	Illumina HiSeq	Phase_I	65	19	0.292	NM_015038	E9PMC2|Q6ZSB2	In_Frame_Del	DEL	ENST00000530275.1	37																																																																																				.	.	none		0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		-	39879435	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	-	39879397	7	5	23	1	0	1	0	1	0	0	0	0	8192	943	33	0	3462	0	KIAA0754	1	39879397	In_Frame_Del	DEL	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	TCGA-GR-7353-01A-11D-2210-10	57	39879397	209371224	118	16574	360	3								
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39879405	39879405	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcccaccccagaggaatcCgcctccgcagctgttgcagt					rs548996855|rs199726261		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39879405C>T	ENST00000530275.1	+	1	3255	c.3060C>T	c.(3058-3060)tcC>tcT	p.S1020S	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1020	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAGGAATCCGCCTCCGCAG	0.682																																					p.S1156S		Atlas-SNP	.											.	KIAA0754	93	.	0			c.C3468T						PASS	.						18	21	20					1																	39879405		1939	4131	6070	SO:0001819	synonymous_variant	643314	exon1			GGAATCCGCCTCC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3060C>T	1.37:g.39879405C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	55	20	0.363636	NM_015038	E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37																																																																																				.	.	none		0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39879405	C	T	39879405	2	4	23	1	0	0	0	0	0	0	0	1	8192	639	23	1		1	KIAA0754	1	39879405	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8	39879405	209371216	119	16575	360	3								
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39879410	39879410	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccccagaggaatccgcctCcgcagctgttgcagtgccca							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:39879410C>T	ENST00000530275.1	+	1	3260	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1022	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAATCCGCCTCCGCAGCTGTT	0.687																																					p.S1158F		Atlas-SNP	.											KIAA0754_ENST00000530275,NS,carcinoma,-1,2	KIAA0754	93	2	0			c.C3473T						scavenged	.						18	22	21					1																	39879410		1946	4130	6076	SO:0001583	missense	643314	exon1			CCGCCTCCGCAGC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3065C>T	1.37:g.39879410C>T	ENSP00000431179:p.Ser1022Phe	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	58	9	0.155172	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	N	12.12	1.842527	0.32606	.	.	ENSG00000255103	ENST00000530275	T	0.24350	1.86	4.0	2.07	0.26955	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	P	0.42203	0.773	P	0.44422	0.449	T	0.11299	-1.0593	9	0.72032	D	0.01	.	6.6382	0.22895	0.1876:0.5829:0.2295:0.0	.	1022	O94854	K0754_HUMAN	F	1022	ENSP00000431179:S1022F	ENSP00000431179:S1022F	S	+	2	0	RP4-562N20.1	39651997	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.547000	0.02186	0.468000	0.27243	0.391000	0.25812	TCC	.	.	none		0.687	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39879410	C	T	39879410	3	4	23	1	0	0	0	0	1	0	0	0	8192	855	30	2	3475	2	KIAA0754	1	39879410	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5	39879410	209371211	120	16576	360	3								
PPT1	5538	hgsc.bcm.edu	37	chr1	40557033	40557033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccaaccgagatcagattgAtcatgggaggtgaagggcat	13	9	2	4	rs1800205	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:40557033A>G	ENST00000433473.3	-	4	865	c.401T>C	c.(400-402)aTc>aCc	p.I134T	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	134			I -> T (in dbSNP:rs1800205). {ECO:0000269|PubMed:9664077}.		adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCAGATTGATCATGGGAGG	0.433													A|||	370	0.0738818	0.0068	0.036	5008	,	,		19738	0.1052		0.0746	False		,,,				2504	0.1585				p.I134T		Atlas-SNP	.											.	PPT1	18	.	0			c.T401C						PASS	.	A	THR/ILE,	46,4360	48.2+/-83.0	0,46,2157	102	85	91		401,	2.4	1	1	dbSNP_89	91	408,8192	128.8+/-187.0	12,384,3904	yes	missense,intron	PPT1	NM_000310.3,NM_001142604.1	89,	12,430,6061	GG,GA,AA		4.7442,1.044,3.4907	benign,	134/307,	40557033	454,12552	2203	4300	6503	SO:0001583	missense	5538	exon4			AGATTGATCATGG	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.401T>C	1.37:g.40557033A>G	ENSP00000394863:p.Ile134Thr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	51	7	0.137255	NM_000310	B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	CCDS447.1	151	0.06913919413919414	4	0.008130081300813009	17	0.04696132596685083	68	0.11888111888111888	62	0.08179419525065963	A	10.71	1.425899	0.25726	0.01044	0.047442	ENSG00000131238	ENST00000433473;ENST00000439754;ENST00000372779;ENST00000526547	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	4.82	2.39	0.29439	.	0.738450	0.13506	N	0.382876	T	0.17662	0.0424	N	0.25890	0.77	0.09310	P	0.999999863687	B;B	0.15930	0.001;0.015	B;B	0.23419	0.004;0.046	T	0.66256	-0.5969	9	0.23302	T	0.38	-17.087	8.6687	0.34137	0.5085:0.0:0.0:0.4915	rs1800205;rs52825618	84;134	B4DWU3;P50897	.;PPT1_HUMAN	T	134;29;163;84	ENSP00000394863:I134T;ENSP00000403207:I29T;ENSP00000361865:I163T;ENSP00000436481:I84T	ENSP00000361865:I163T	I	-	2	0	PPT1	40329620	0.982000	0.34865	0.956000	0.39512	0.964000	0.63967	0.574000	0.23714	0.294000	0.22547	0.528000	0.53228	ATC	A|0.952;G|0.048	0.048	strong		0.433	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		G	40557033	A	G	40557033	3	3	23	1	0	0	0	0	1	0	0	0	12411	333	12	2	543	2	PPT1	1	40557033	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	677623	40557033	208693588	121	16577										
ZNF642	339559	hgsc.bcm.edu	37	chr1	40961603	40961603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgattcatcctttaaaaaaCatcagagacatcacactgga	5	9	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:40961603C>A	ENST00000372706.1	+	6	2459	c.1453C>A	c.(1453-1455)Cat>Aat	p.H485N	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.H485N			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTTTAAAAAACATCAGAGACA	0.388																																					p.H485N		Atlas-SNP	.											ZNF642,NS,carcinoma,0,1	.	.	1	0			c.C1453A						scavenged	.						67	66	66					1																	40961603		2203	4300	6503	SO:0001583	missense	339559	exon6			AAAAAACATCAGA	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1453C>A	1.37:g.40961603C>A	ENSP00000361791:p.His485Asn	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168280	0.78339	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	D;D	0.86865	-2.18;-2.18	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000628	D	0.94761	0.8309	M	0.92880	3.355	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.95476	0.8556	10	0.87932	D	0	-12.0572	15.5403	0.76039	0.0:1.0:0.0:0.0	.	485	Q49AA0	ZN642_HUMAN	N	485	ENSP00000361791:H485N;ENSP00000361790:H485N	ENSP00000361790:H485N	H	+	1	0	ZNF642	40734190	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.676000	0.68131	2.786000	0.95864	0.561000	0.74099	CAT	.	.	none		0.388	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		A	40961603	C	A	40961603	3	1	23	1	0	0	0	0	1	0	0	0	18055	478	17	4	1471	4	ZNF642	1	40961603	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	404570	40961603	208289018	122	16578										
DEM1	64789	hgsc.bcm.edu	37	chr1	40980668	40980668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattaagtttctgaacatacTtttgctgattcctaccctgc	5	10	1	2	rs35672330	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:40980668T>C	ENST00000372703.1	+	2	1526	c.452T>C	c.(451-453)cTt>cCt	p.L151P	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.L151P|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.L151P			Q9H790	EXO5_HUMAN	exonuclease 5	151					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										CTGAACATACTTTTGCTGATT	0.463													T|||	99	0.0197684	0.0045	0.0403	5008	,	,		21040	0.0		0.0596	False		,,,				2504	0.0051				p.L151P		Atlas-SNP	.											.	.	.	.	0			c.T452C						PASS	.	T	PRO/LEU	60,4346	56.8+/-93.2	0,60,2143	76	76	76		452	3.8	0	1	dbSNP_126	76	565,8035	148.9+/-204.1	19,527,3754	yes	missense	DEM1	NM_022774.1	98	19,587,5897	CC,CT,TT		6.5698,1.3618,4.8055	probably-damaging	151/374	40980668	625,12381	2203	4300	6503	SO:0001583	missense	64789	exon3			ACATACTTTTGCT	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.452T>C	1.37:g.40980668T>C	ENSP00000361788:p.Leu151Pro	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	100	71	0.71	NM_022774	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	CCDS453.1	64	0.029304029304029304	3	0.006097560975609756	18	0.049723756906077346	0	0.0	43	0.05672823218997362	T	11.11	1.542557	0.27563	0.013618	0.065698	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	4.97	3.84	0.44239	.	0.000000	0.43919	D	0.000515	T	0.08403	0.0209	M	0.74258	2.255	0.25531	N	0.987277	D	0.89917	1.0	D	0.91635	0.999	T	0.04767	-1.0928	10	0.87932	D	0	-19.3156	7.4498	0.27231	0.0:0.097:0.0:0.903	rs35672330	151	Q9H790	EXO5_HUMAN	P	151	ENSP00000351328:L151P;ENSP00000361788:L151P;ENSP00000398437:L151P;ENSP00000296380:L151P;ENSP00000391240:L151P;ENSP00000413565:L151P;ENSP00000409715:L151P;ENSP00000392115:L151P	ENSP00000296380:L151P	L	+	2	0	DEM1	40753255	0.057000	0.20700	0.002000	0.10522	0.372000	0.29890	3.024000	0.49674	1.033000	0.39918	0.528000	0.53228	CTT	T|0.958;C|0.042	0.042	strong		0.463	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		C	40980668	T	C	40980668	3	2	23	1	0	0	0	0	1	0	0	0	4425	1609	56	3	454	3	DEM1	1	40980668	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	19065	40980668	208269953	123	16579										
DEM1	64789	hgsc.bcm.edu	37	chr1	40980731	40980731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttccagtgtttggggaagGggagggtgtacttcttgttg	17	4	1	0	rs11208299	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:40980731G>T	ENST00000372703.1	+	2	1589	c.515G>T	c.(514-516)gGg>gTg	p.G172V	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.G172V|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.G172V			Q9H790	EXO5_HUMAN	exonuclease 5	172			G -> V (polymorphism that does not affect exonuclease activity; dbSNP:rs11208299). {ECO:0000269|PubMed:15489334}.		DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										TTTGGGGAAGGGGAGGGTGTA	0.502													T|||	2715	0.542133	0.6997	0.536	5008	,	,		20246	0.5		0.3757	False		,,,				2504	0.5481				p.G172V		Atlas-SNP	.											.	.	.	.	0			c.G515T						PASS	.	T	VAL/GLY	2811,1595	493.4+/-362.7	897,1017,289	82	88	86		515	4	1	1	dbSNP_120	86	3196,5404	651.2+/-400.8	582,2032,1686	yes	missense	DEM1	NM_022774.1	109	1479,3049,1975	TT,TG,GG		37.1628,36.2006,46.1864	benign	172/374	40980731	6007,6999	2203	4300	6503	SO:0001583	missense	64789	exon3			GGGAAGGGGAGGG	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.515G>T	1.37:g.40980731G>T	ENSP00000361788:p.Gly172Val	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	127	33	0.259843	NM_022774	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	CCDS453.1	1122	0.5137362637362637	357	0.725609756097561	185	0.511049723756906	295	0.5157342657342657	285	0.3759894459102902	T	0.127	-1.118333	0.01785	0.637994	0.371628	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000418186;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.09	3.96	0.45880	.	0.692054	0.12336	N	0.477953	T	0.00012	0.0000	N	0.00025	-2.675	0.38200	P	0.059826999999999964	B	0.02656	0.0	B	0.01281	0.0	T	0.41431	-0.9509	9	0.02654	T	1	-5.5314	5.3966	0.16273	0.0:0.0896:0.1772:0.7333	rs11208299;rs17845666;rs17858602;rs52798759;rs60314009;rs11208299	172	Q9H790	EXO5_HUMAN	V	172	ENSP00000351328:G172V;ENSP00000361788:G172V;ENSP00000398437:G172V;ENSP00000296380:G172V;ENSP00000391240:G172V;ENSP00000409715:G172V;ENSP00000392115:G172V	ENSP00000296380:G172V	G	+	2	0	DEM1	40753318	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.213000	0.42844	0.504000	0.28082	-0.264000	0.10439	GGG	G|0.508;T|0.492	0.492	strong		0.502	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		T	40980731	G	T	40980731	3	4	23	1	0	0	0	0	1	0	0	0	4425	1232	43	4	517	4	DEM1	1	40980731	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	63	40980731	208269890	124	16580										
KCNQ4	9132	hgsc.bcm.edu	37	chr1	41296828	41296828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgggtccttccaagcagcaTctggcacctccaacaatgcc	8	16	1	0	rs34287852	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:41296828T>G	ENST00000347132.5	+	10	1447	c.1365T>G	c.(1363-1365)caT>caG	p.H455Q	KCNQ4_ENST00000509682.2_Missense_Mutation_p.H401Q|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	455			H -> Q (in dbSNP:rs34287852). {ECO:0000269|PubMed:10025409}.		inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCAAGCAGCATCTGGCACCTC	0.642													T|||	471	0.0940495	0.0061	0.1124	5008	,	,		14942	0.0516		0.2167	False		,,,				2504	0.1176				p.H455Q		Atlas-SNP	.											.	KCNQ4	58	.	0			c.T1365G	GRCh37	CM062786	KCNQ4	M	rs34287852	PASS	.	T	GLN/HIS,GLN/HIS	215,4187		3,209,1989	43	34	37		1365,1203	2	1	1	dbSNP_126	37	2062,6538		256,1550,2494	yes	missense,missense	KCNQ4	NM_004700.3,NM_172163.2	24,24	259,1759,4483	GG,GT,TT		23.9767,4.8841,17.5127	benign,benign	455/696,401/642	41296828	2277,10725	2201	4300	6501	SO:0001583	missense	9132	exon10			GCAGCATCTGGCA	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1365T>G	1.37:g.41296828T>G	ENSP00000262916:p.His455Gln	Somatic	311	2	0.00643087		WXS	Illumina HiSeq	Phase_I	205	138	0.673171	NM_004700	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	244|244	0.11172161172161173|0.11172161172161173	5|5	0.01016260162601626|0.01016260162601626	48|48	0.13259668508287292|0.13259668508287292	33|33	0.057692307692307696|0.057692307692307696	158|158	0.20844327176781002|0.20844327176781002	T|T	10.83|10.83	1.461499|1.461499	0.26248|0.26248	0.048841|0.048841	0.239767|0.239767	ENSG00000117013|ENSG00000117013	ENST00000347132;ENST00000509682|ENST00000443478	D;D|.	0.98717|.	-5.09;-4.95|.	5.02|5.02	2.05|2.05	0.26809|0.26809	.|.	0.530165|.	0.18743|.	N|.	0.132418|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.14661|0.14661	0.345|0.345	0.35098|0.35098	P|P	0.23502900000000004|0.23502900000000004	B;B|.	0.17465|.	0.001;0.022|.	B;B|.	0.10450|.	0.001;0.005|.	T|T	0.35251|0.35251	-0.9796|-0.9796	9|4	0.17832|.	T|.	0.49|.	-13.1202|-13.1202	7.873|7.873	0.29578|0.29578	0.0:0.7067:0.0:0.2933|0.0:0.7067:0.0:0.2933	rs34287852|rs34287852	401;455|.	P56696-2;P56696|.	.;KCNQ4_HUMAN|.	Q|A	455;401|316	ENSP00000262916:H455Q;ENSP00000423756:H401Q|.	ENSP00000262916:H455Q|.	H|S	+|+	3|1	2|0	KCNQ4|KCNQ4	41069415|41069415	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.412000|0.412000	0.21131|0.21131	0.215000|0.215000	0.20761|0.20761	-0.394000|-0.394000	0.06481|0.06481	CAT|TCT	T|0.858;G|0.142	0.142	strong		0.642	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		G	41296828	T	G	41296828	3	3	23	1	0	0	0	0	1	0	0	0	8085	1432	50	5	1403	5	KCNQ4	1	41296828	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	316097	41296828	207953793	125	16581										
HIVEP3	59269	hgsc.bcm.edu	37	chr1	41978959	41978959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttgcgggctagtggtggaCggctgcctgcttctttgctt	15	9	1	0	rs144265546		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:41978959C>T	ENST00000372583.1	-	8	6818	c.5933G>A	c.(5932-5934)cGt>cAt	p.R1978H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1978H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1978H|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1978H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1978					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAGTGGTGGACGGCTGCCTGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16700	0.001		0.0	False		,,,				2504	0.0				p.R1978H		Atlas-SNP	.											HIVEP3,NS,carcinoma,-1,1	HIVEP3	235	1	0			c.G5933A						PASS	.	C	HIS/ARG,HIS/ARG	0,4394		0,0,2197	59	66	64		5933,5933	0.9	0.1	1	dbSNP_134	64	1,8581		0,1,4290	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	29,29	0,1,6487	TT,TC,CC		0.0117,0.0,0.0077	benign,benign	1978/2406,1978/2407	41978959	1,12975	2197	4291	6488	SO:0001583	missense	59269	exon8			GGTGGACGGCTGC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5933G>A	1.37:g.41978959C>T	ENSP00000361664:p.Arg1978His	Somatic	398	1	0.00251256		WXS	Illumina HiSeq	Phase_I	266	194	0.729323	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	3.314	-0.140096	0.06669	0.0	1.17E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06849	3.27;3.25;3.25;3.27	4.9	0.906	0.19314	.	0.511179	0.16205	N	0.224759	T	0.04452	0.0122	N	0.17082	0.46	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.12156	0.007;0.003	T	0.43475	-0.9389	10	0.23891	T	0.37	-0.7167	5.8783	0.18842	0.0:0.5722:0.1291:0.2987	.	1978;1978	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1978	ENSP00000361665:R1978H;ENSP00000361664:R1978H;ENSP00000247584:R1978H;ENSP00000410828:R1978H	ENSP00000247584:R1978H	R	-	2	0	HIVEP3	41751546	0.136000	0.22515	0.136000	0.22124	0.344000	0.29017	0.195000	0.17155	-0.021000	0.14009	-0.150000	0.13652	CGT	C|1.000;T|0.000	0.000	weak		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	41978959	C	T	41978959	3	4	23	1	0	0	0	0	1	0	0	0	7188	536	19	1	1295	1	HIVEP3	1	41978959	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	682131	41978959	207271662	126	16582										
HIVEP3	59269	hgsc.bcm.edu	37	chr1	42046613	42046613	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagccacagggggtagccGgatgtcactgctgtactctg	16	10	2	0	rs12132697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:42046613G>T	ENST00000372583.1	-	4	4741	c.3856C>A	c.(3856-3858)Cgg>Agg	p.R1286R	HIVEP3_ENST00000247584.5_Silent_p.R1286R|HIVEP3_ENST00000372584.1_Silent_p.R1286R|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Silent_p.R1286R	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1286					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGTAGCCGGATGTCACTG	0.617													G|||	607	0.121206	0.0204	0.1311	5008	,	,		17803	0.0446		0.2505	False		,,,				2504	0.1963				p.R1286R		Atlas-SNP	.											HIVEP3,NS,carcinoma,0,1	HIVEP3	235	1	0			c.C3856A						PASS	.	G	,	275,4131	151.8+/-185.6	13,249,1941	44	47	46		3856,3856	5.2	0.4	1	dbSNP_120	46	2176,6424	368.8+/-335.2	297,1582,2421	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	310,1831,4362	TT,TG,GG		25.3023,6.2415,18.8451	,	1286/2406,1286/2407	42046613	2451,10555	2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			GTAGCCGGATGTC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3856C>A	1.37:g.42046613G>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	86	63	0.732558	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																			G|0.838;T|0.162	0.162	strong		0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42046613	G	T	42046613	2	4	23	1	0	0	0	0	0	0	0	1	7188	1115	39	4		4	HIVEP3	1	42046613	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	67654	42046613	207204008	127	16583										
CCDC30	728621	hgsc.bcm.edu	37	chr1	43042703	43042703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctctagataaagattgaaCtaaagcatgcccaacagaag	7	9	1	4	rs12049046	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43042703C>T	ENST00000340612.4	+	6	868	c.868C>T	c.(868-870)Cta>Tta	p.L290L	CCDC30_ENST00000428554.2_Silent_p.L290L|CCDC30_ENST00000390640.4_Silent_p.L79L|CCDC30_ENST00000507855.1_Silent_p.L79L|CCDC30_ENST00000342022.4_Silent_p.L290L			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	290						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAGATTGAACTAAAGCATGC	0.388													C|||	1430	0.285543	0.177	0.1571	5008	,	,		19876	0.4563		0.1879	False		,,,				2504	0.4479				p.L290L		Atlas-SNP	.											.	CCDC30	78	.	0			c.C868T						PASS	.	C		808,3598	322.3+/-297.6	79,650,1474	65	61	62		868	3.9	1	1	dbSNP_120	62	1707,6893	309.3+/-309.3	176,1355,2769	no	coding-synonymous	CCDC30	NM_001080850.2		255,2005,4243	TT,TC,CC		19.8488,18.3386,19.3372		290/784	43042703	2515,10491	2203	4300	6503	SO:0001819	synonymous_variant	728621	exon7			ATTGAACTAAAGC	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.868C>T	1.37:g.43042703C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	86	17	0.197674	NM_001080850	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																			C|0.778;T|0.222	0.222	strong		0.388	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		T	43042703	C	T	43042703	2	4	23	1	0	0	0	0	0	0	0	1	2805	564	20	2		2	CCDC30	1	43042703	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	996090	43042703	206207918	128	16584										
CLDN19	149461	hgsc.bcm.edu	37	chr1	43201614	43201614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttgggtctctctggctcCgggcatgtgcagcagaggaa	15	10	2	1	rs9660973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43201614C>T	ENST00000296387.1	-	4	751	c.561G>A	c.(559-561)ccG>ccA	p.P187P	CLDN19_ENST00000372539.3_Silent_p.P187P|CLDN19_ENST00000539749.1_Missense_Mutation_p.R159Q	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	187					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTCTGGCTCCGGGCATGTGC	0.677													c|||	260	0.0519169	0.1006	0.0389	5008	,	,		16585	0.001		0.0398	False		,,,				2504	0.0603				p.R159Q		Atlas-SNP	.											.	CLDN19	21	.	0			c.G476A						PASS	.		,GLN/ARG,	396,3984		9,378,1803	30	28	29		561,476,561	-8.6	0	1	dbSNP_119	29	351,8217		5,341,3938	yes	coding-synonymous,missense,coding-synonymous	CLDN19	NM_001123395.1,NM_001185117.1,NM_148960.2	,43,	14,719,5741	TT,TC,CC		4.0966,9.0411,5.7692	,,	187/212,159/219,187/225	43201614	747,12201	2190	4284	6474	SO:0001819	synonymous_variant	149461	exon3			TGGCTCCGGGCAT	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.561G>A	1.37:g.43201614C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	134	45	0.335821	NM_001185117	B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	CCDS471.1	98	0.04487179487179487	48	0.0975609756097561	19	0.052486187845303865	0	0.0	31	0.040897097625329816	c	11.52	1.664047	0.29604	0.090411	0.040966	ENSG00000164007	ENST00000539749	D	0.86627	-2.15	4.31	-8.62	0.00881	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.23260	N	0.998023	B	0.10296	0.003	B	0.04013	0.001	T	0.48714	-0.9011	8	0.72032	D	0.01	.	2.721	0.05201	0.2173:0.0855:0.367:0.3302	rs9660973;rs9660973	159	F5H5P9	.	Q	159	ENSP00000443229:R159Q	ENSP00000443229:R159Q	R	-	2	0	CLDN19	42974201	0.000000	0.05858	0.016000	0.15963	0.624000	0.37722	-2.658000	0.00852	-3.151000	0.00230	-0.516000	0.04426	CGG	C|0.945;T|0.055	0.055	strong		0.677	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		T	43201614	C	T	43201614	2	4	23	1	0	0	0	0	0	0	0	1	3480	652	23	1		1	CLDN19	1	43201614	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	158911	43201614	206049007	129	16585										
LEPRE1	64175	hgsc.bcm.edu	37	chr1	43212926	43212926	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaccagctgctctcacccGctcgagctgctctcacccgc	8	20	2	0	rs67014447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43212926G>A	ENST00000296388.5	-	14	2107				LEPRE1_ENST00000236040.4_Missense_Mutation_p.A691V|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.A691V			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1						bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCTCACCCGCTCGAGCTGC	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-|||	310	0.061901	0.1384	0.0389	5008	,	,		19053	0.001		0.0398	False		,,,				2504	0.0603				p.A691V		Atlas-SNP	.											.	LEPRE1	130	.	0			c.C2072T						PASS	.	-	VAL/ALA,	584,3822		33,518,1652	61	61	61		2072,		0	1	dbSNP_130	61	378,8222		7,364,3929	yes	missense,intron	LEPRE1	NM_001146289.1,NM_022356.3	64,	40,882,5581	AA,AG,GG		4.3953,13.2547,7.3966	,	691/698,	43212926	962,12044	2203	4300	6503	SO:0001627	intron_variant	64175	exon14			TCACCCGCTCGAG	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.2055+16C>T	1.37:g.43212926G>A		Somatic	65	0	0	914	WXS	Illumina HiSeq	Phase_I	45	11	0.244444	NM_001146289	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	CCDS472.2	112	0.05128205128205128	61	0.12398373983739837	19	0.052486187845303865	0	0.0	32	0.04221635883905013	-	0.009	-1.803442	0.00611	0.132547	0.043953	ENSG00000117385	ENST00000397054;ENST00000236040	T;T	0.37411	1.2;1.28	.	.	.	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19224	-1.0312	4	0.21540	T	0.41	.	.	.	.	.	691	Q32P28-3	.	V	691	ENSP00000380245:A691V;ENSP00000236040:A691V	ENSP00000236040:A691V	A	-	2	0	LEPRE1	42985513	0.009000	0.17119	0.014000	0.15608	0.025000	0.11179	-0.234000	0.09028	0.000000	0.14550	0.000000	0.15137	GCG	G|0.936;A|0.064	0.064	strong		0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		A	43212926	G	A	43212926	1	1	23	0	1	0	0	0	0	0	0	0	8729	1087	38	1		1	LEPRE1	1	43212926	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11312	43212926	206037695	130	16586										
ERMAP	114625	hgsc.bcm.edu	37	chr1	43296173	43296173	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggctgcctcatccctctCgtcttcctccggctgtctgt	8	17	5	0	rs33950227	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43296173C>T	ENST00000372517.2	+	3	298	c.54C>T	c.(52-54)ctC>ctT	p.L18L	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000372514.3_Silent_p.L18L	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	18						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCATCCCTCTCGTCTTCCTCC	0.562													C|||	733	0.146366	0.0923	0.2579	5008	,	,		18309	0.0099		0.2525	False		,,,				2504	0.1718				p.L18L		Atlas-SNP	.											.	ERMAP	30	.	0			c.C54T						PASS	.	C	,	529,3877	241.8+/-252.1	31,467,1705	131	105	114		54,54	-5.6	0	1	dbSNP_126	114	2091,6509	361.8+/-332.5	250,1591,2459	no	coding-synonymous,coding-synonymous	ERMAP	NM_001017922.1,NM_018538.3	,	281,2058,4164	TT,TC,CC		24.314,12.0064,20.1445	,	18/476,18/476	43296173	2620,10386	2203	4300	6503	SO:0001819	synonymous_variant	114625	exon3			CCCTCTCGTCTTC	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.54C>T	1.37:g.43296173C>T		Somatic	166	1	0.0060241		WXS	Illumina HiSeq	Phase_I	96	73	0.760417	NM_001017922	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	ENST00000372517.2	37	CCDS475.1																																																																																			C|0.814;T|0.186	0.186	strong		0.562	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		T	43296173	C	T	43296173	2	4	23	1	0	0	0	0	0	0	0	1	5234	871	31	1		1	ERMAP	1	43296173	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	83247	43296173	205954448	131	16587										
ERMAP	114625	hgsc.bcm.edu	37	chr1	43296195	43296195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcctccggctgtctgtgCatgtgtcaggtaggagtttc	12	10	3	0	rs33953680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43296195C>T	ENST00000372517.2	+	3	320	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.H26Y	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	26			H -> Y (in dbSNP:rs33953680). {ECO:0000269|PubMed:12393480, ECO:0000269|Ref.5}.			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGTCTGTGCATGTGTCAGG	0.527													C|||	713	0.142372	0.0234	0.2723	5008	,	,		19084	0.0099		0.2952	False		,,,				2504	0.1902				p.H26Y		Atlas-SNP	.											.	ERMAP	30	.	0			c.C76T						PASS	.	C	TYR/HIS,TYR/HIS	307,4099	167.3+/-198.3	11,285,1907	127	102	110		76,76	0.7	0	1	dbSNP_126	110	2391,6209	397.5+/-345.8	337,1717,2246	yes	missense,missense	ERMAP	NM_001017922.1,NM_018538.3	83,83	348,2002,4153	TT,TC,CC		27.8023,6.9678,20.7443	benign,benign	26/476,26/476	43296195	2698,10308	2203	4300	6503	SO:0001583	missense	114625	exon3			TCTGTGCATGTGT	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.76C>T	1.37:g.43296195C>T	ENSP00000361595:p.His26Tyr	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	81	60	0.740741	NM_001017922	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	CCDS475.1	347	0.15888278388278387	15	0.03048780487804878	108	0.2983425414364641	4	0.006993006993006993	220	0.29023746701846964	C	8.207	0.799368	0.16397	0.069678	0.278023	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.45276	0.9;0.9	5.32	0.706	0.18133	Immunoglobulin-like (1);	1.705140	0.03691	N	0.247099	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.999999999946489E-6	D;B	0.59357	0.985;0.386	P;B	0.51055	0.657;0.063	T	0.19192	-1.0313	9	0.02654	T	1	.	8.39	0.32522	0.2569:0.4622:0.2809:0.0	rs33953680	87;26	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	Y	26	ENSP00000361595:H26Y;ENSP00000361592:H26Y	ENSP00000361592:H26Y	H	+	1	0	ERMAP	43068782	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.089000	0.11180	0.192000	0.20272	-0.291000	0.09656	CAT	C|0.807;T|0.193	0.193	strong		0.527	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		T	43296195	C	T	43296195	3	4	23	1	0	0	0	0	1	0	0	0	5234	710	25	2	78	2	ERMAP	1	43296195	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22	43296195	205954426	132	16588										
FAM183A	440585	hgsc.bcm.edu	37	chr1	43618596	43618596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagttggatgggacttagaGcccttggtaagcgtggctcc	15	8	0	1	rs12074551	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43618596G>A	ENST00000335282.4	+	3	291	c.291G>A	c.(289-291)gaG>gaA	p.E97E	FAM183A_ENST00000409337.1_Intron|FAM183A_ENST00000410048.1_Silent_p.E69E	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	97										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						GGGACTTAGAGCCCTTGGTAA	0.527													G|||	600	0.119808	0.0575	0.1455	5008	,	,		22683	0.0		0.2833	False		,,,				2504	0.1411				p.E97E		Atlas-SNP	.											.	FAM183A	28	.	0			c.G291A						PASS	.	G		280,3796		11,258,1769	64	68	67		291	1.8	1	1	dbSNP_120	67	2100,6280		264,1572,2354	no	coding-synonymous	FAM183A	NM_001101376.2		275,1830,4123	AA,AG,GG		25.0597,6.8695,19.1073		97/135	43618596	2380,10076	2038	4190	6228	SO:0001819	synonymous_variant	440585	exon3			CTTAGAGCCCTTG	AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.291G>A	1.37:g.43618596G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	144	24	0.166667	NM_001101376	B7ZBL8	Silent	SNP	ENST00000335282.4	37	CCDS44126.1																																																																																			G|0.838;A|0.162	0.162	strong		0.527	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		A	43618596	G	A	43618596	2	1	23	1	0	0	0	0	0	0	0	1	5510	962	34	2		2	FAM183A	1	43618596	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	322401	43618596	205632025	133	16589										
EBNA1BP2	10969	hgsc.bcm.edu	37	chr1	43630156	43630156	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctctcttgttcgttttccAggtctcttctacagaaaaag	6	10	4	1	rs11559311	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43630156A>C	ENST00000236051.2	-	9	1020	c.879T>G	c.(877-879)ccT>ccG	p.P293P	EBNA1BP2_ENST00000431635.2_Silent_p.P348P	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	293					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCGTTTTCCAGGTCTCTTCT	0.443													A|||	410	0.081869	0.2405	0.0605	5008	,	,		19601	0.001		0.0368	False		,,,				2504	0.0123				p.P348P		Atlas-SNP	.											.	EBNA1BP2	37	.	0			c.T1044G						PASS	.	A	,	913,3493	351.1+/-311.1	102,709,1392	176	155	162		1044,879	-0.3	1	1	dbSNP_120	162	356,8244	119.7+/-179.0	6,344,3950	no	coding-synonymous,coding-synonymous	EBNA1BP2	NM_001159936.1,NM_006824.2	,	108,1053,5342	CC,CA,AA		4.1395,20.7217,9.757	,	348/362,293/307	43630156	1269,11737	2203	4300	6503	SO:0001819	synonymous_variant	10969	exon10			TTTTCCAGGTCTC	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.879T>G	1.37:g.43630156A>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	119	87	0.731092	NM_001159936	Q96A66	Silent	SNP	ENST00000236051.2	37	CCDS478.1																																																																																			A|0.912;C|0.088	0.088	strong		0.443	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			C	43630156	A	C	43630156	2	2	23	1	0	0	0	0	0	0	0	1	4885	175	7	5		5	EBNA1BP2	1	43630156	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11560	43630156	205620465	134	16590										
EBNA1BP2	10969	hgsc.bcm.edu	37	chr1	43632536	43632536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttggctcctgccttcttgCgctgtgccagaggtttctga	11	12	2	2	rs7163	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43632536C>T	ENST00000236051.2	-	7	809	c.668G>A	c.(667-669)cGc>cAc	p.R223H	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.R278H	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	223			R -> H (in dbSNP:rs7163).		ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCTTCTTGCGCTGTGCCAG	0.488													c|||	708	0.141374	0.1301	0.1513	5008	,	,		17742	0.0		0.2883	False		,,,				2504	0.1442				p.R278H		Atlas-SNP	.											.	EBNA1BP2	37	.	0			c.G833A						PASS	.		HIS/ARG,HIS/ARG	518,3888	237.1+/-249.0	29,460,1714	162	157	158		833,668	-1.5	0	1	dbSNP_52	158	2216,6384	377.6+/-338.6	292,1632,2376	yes	missense,missense	EBNA1BP2	NM_001159936.1,NM_006824.2	29,29	321,2092,4090	TT,TC,CC		25.7674,11.7567,21.0211	possibly-damaging,possibly-damaging	278/362,223/307	43632536	2734,10272	2203	4300	6503	SO:0001583	missense	10969	exon8			TTCTTGCGCTGTG	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.668G>A	1.37:g.43632536C>T	ENSP00000236051:p.Arg223His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	73	13	0.178082	NM_001159936	Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	367	0.16804029304029305	62	0.12601626016260162	67	0.1850828729281768	0	0.0	238	0.31398416886543534	c	9.108	1.005915	0.19199	0.117567	0.257674	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.43688	0.94;0.94	5.77	-1.47	0.08772	.	1.470620	0.03747	N	0.255952	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	P;P	0.45672	0.864;0.864	B;B	0.41440	0.357;0.357	T	0.09552	-1.0669	9	0.44086	T	0.13	5.5365	1.3749	0.02218	0.1222:0.3479:0.2379:0.292	rs7163;rs1049316;rs1782373;rs3189460;rs17392458;rs58444052;rs7163	223;223	Q6IB29;Q99848	.;EBP2_HUMAN	H	278;223	ENSP00000407323:R278H;ENSP00000236051:R223H	ENSP00000236051:R223H	R	-	2	0	EBNA1BP2	43405123	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.097000	0.15168	-0.204000	0.10235	-1.219000	0.01604	CGC	C|0.805;T|0.195	0.195	strong		0.488	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			T	43632536	C	T	43632536	3	4	23	1	0	0	0	0	1	0	0	0	4885	768	27	1	264	1	EBNA1BP2	1	43632536	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2380	43632536	205618085	135	16591										
EBNA1BP2	10969	hgsc.bcm.edu	37	chr1	43636484	43636484	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaataatcagtgggtcgcttCgtagggactttgagctgatg	13	6	1	2	rs1049276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43636484C>G	ENST00000236051.2	-	4	531	c.390G>C	c.(388-390)acG>acC	p.T130T	WDR65_ENST00000528956.1_5'Flank|WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Silent_p.T185T	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	130					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGTCGCTTCGTAGGGACTT	0.473													G|||	705	0.140775	0.1278	0.1513	5008	,	,		20277	0.0		0.2883	False		,,,				2504	0.1442				p.T185T		Atlas-SNP	.											.	EBNA1BP2	37	.	0			c.G555C						PASS	.	G	,	526,3880	778.0+/-414.3	31,464,1708	168	164	166		555,390	-1.3	0.9	1	dbSNP_86	166	2216,6384	710.4+/-405.8	292,1632,2376	no	coding-synonymous,coding-synonymous	EBNA1BP2	NM_001159936.1,NM_006824.2	,	323,2096,4084	GG,GC,CC		25.7674,11.9383,21.0826	,	185/362,130/307	43636484	2742,10264	2203	4300	6503	SO:0001819	synonymous_variant	10969	exon5			TCGCTTCGTAGGG	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.390G>C	1.37:g.43636484C>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	84	23	0.27381	NM_001159936	Q96A66	Silent	SNP	ENST00000236051.2	37	CCDS478.1																																																																																			C|0.799;G|0.201	0.201	strong		0.473	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			G	43636484	C	G	43636484	2	3	23	1	0	0	0	0	0	0	0	1	4885	871	31	4		4	EBNA1BP2	1	43636484	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3948	43636484	205614137	136	16592										
WDR65	149465	hgsc.bcm.edu	37	chr1	43638436	43638436	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggagatcatgtcagccgtGgtagctcagacgctgcatgt	14	10	3	2	rs6695238	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43638436G>T	ENST00000372492.4	+	2	336	c.12G>T	c.(10-12)gtG>gtT	p.V4V	WDR65_ENST00000528956.1_Silent_p.V4V|EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		4										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCAGCCGTGGTAGCTCAGA	0.547													G|||	341	0.0680911	0.1899	0.0576	5008	,	,		10442	0.001		0.0368	False		,,,				2504	0.0123				p.V4V		Atlas-SNP	.											.	WDR65	76	.	0			c.G12T						PASS	.	G	,,	714,3692	295.6+/-283.7	65,584,1554	116	104	108		12,12,12	2.1	1	1	dbSNP_116	108	354,8246	119.5+/-178.9	6,342,3952	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	71,926,5506	TT,TG,GG		4.1163,16.2052,8.2116	,,	4/699,4/699,4/699	43638436	1068,11938	2203	4300	6503	SO:0001819	synonymous_variant	149465	exon2			AGCCGTGGTAGCT																												ENST00000372492.4:c.12G>T	1.37:g.43638436G>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	69	53	0.768116	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																				G|0.920;T|0.080	0.080	strong		0.547	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			T	43638436	G	T	43638436	2	4	23	1	0	0	0	0	0	0	0	1	17313	1335	47	4		4	WDR65	1	43638436	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1952	43638436	205612185	137	16593										
WDR65	149465	hgsc.bcm.edu	37	chr1	43638457	43638457	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagctcagacgctgcatgtTtttggtcttcgatcccacgt	10	11	2	1	rs1782387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43638457T>A	ENST00000372492.4	+	2	357	c.33T>A	c.(31-33)gtT>gtA	p.V11V	WDR65_ENST00000528956.1_Silent_p.V11V|EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		11										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCTGCATGTTTTTGGTCTTC	0.498													T|||	713	0.142372	0.1309	0.1513	5008	,	,		10879	0.0		0.2903	False		,,,				2504	0.1462				p.V11V		Atlas-SNP	.											.	WDR65	76	.	0			c.T33A						PASS	.	T	,,	520,3886	237.7+/-249.4	29,462,1712	138	123	128		33,33,33	-2.8	1	1	dbSNP_89	128	2212,6388	377.1+/-338.4	292,1628,2380	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	321,2090,4092	AA,AT,TT		25.7209,11.8021,21.0057	,,	11/699,11/699,11/699	43638457	2732,10274	2203	4300	6503	SO:0001819	synonymous_variant	149465	exon2			GCATGTTTTTGGT																												ENST00000372492.4:c.33T>A	1.37:g.43638457T>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	65	16	0.246154	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																				T|0.803;A|0.197	0.197	strong		0.498	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43638457	T	A	43638457	2	1	23	1	0	0	0	0	0	0	0	1	17313	1828	64	5		5	WDR65	1	43638457	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	21	43638457	205612164	138	16594										
WDR65	149465	hgsc.bcm.edu	37	chr1	43664218	43664218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccttcatccatctggacaCttcattgtagtagggtttgc	9	10	3	0	rs603123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43664218C>T	ENST00000372492.4	+	8	1653	c.1329C>T	c.(1327-1329)caC>caT	p.H443H	WDR65_ENST00000528956.1_Silent_p.H443H|RNA5SP46_ENST00000362370.1_RNA	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		443										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCTGGACACTTCATTGTAG	0.398													C|||	1012	0.202077	0.2829	0.2089	5008	,	,		21125	0.002		0.3181	False		,,,				2504	0.1748				p.H443H		Atlas-SNP	.											.	WDR65	76	.	0			c.C1329T						PASS	.	C	,,	1102,3304	396.3+/-330.0	128,846,1229	101	93	96		1329,1329,1329	2.9	0.8	1	dbSNP_83	96	2456,6144	405.4+/-348.5	362,1732,2206	no	coding-synonymous,coding-synonymous,coding-synonymous	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	490,2578,3435	TT,TC,CC		28.5581,25.0113,27.3566	,,	443/699,443/699,443/699	43664218	3558,9448	2203	4300	6503	SO:0001819	synonymous_variant	149465	exon8			TGGACACTTCATT																												ENST00000372492.4:c.1329C>T	1.37:g.43664218C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	85	83	0.976471	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																				C|0.742;T|0.258	0.258	strong		0.398	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			T	43664218	C	T	43664218	2	4	23	1	0	0	0	0	0	0	0	1	17313	564	20	2		2	WDR65	1	43664218	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25761	43664218	205586403	139	16595										
C1orf84	23334	hgsc.bcm.edu	37	chr1	43870071	43870071	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgattccacaggggagatCttgtttgatgaagttttcca	11	6	1	4	rs41312024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43870071C>A	ENST00000562955.1	+	4	348	c.348C>A	c.(346-348)atC>atA	p.I116I	SZT2_ENST00000372450.4_Silent_p.I114I|SZT2_ENST00000310739.4_Silent_p.I116I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	116					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						CAGGGGAGATCTTGTTTGATG	0.562													C|||	18	0.00359425	0.0	0.0058	5008	,	,		18752	0.0		0.0139	False		,,,				2504	0.0				p.I116I		Atlas-SNP	.											.	SZT2	383	.	0			c.C348A						PASS	.	C		15,4391	22.3+/-47.3	0,15,2188	95	91	93		348	1.4	1	1	dbSNP_127	93	147,8453	71.0+/-133.6	0,147,4153	no	coding-synonymous	SZT2	NM_015284.3		0,162,6341	AA,AC,CC		1.7093,0.3404,1.2456		116/3376	43870071	162,12844	2203	4300	6503	SO:0001819	synonymous_variant	23334	exon4			GGAGATCTTGTTT	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.348C>A	1.37:g.43870071C>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	83	68	0.819277	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																			C|0.990;A|0.010	0.010	strong		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43870071	C	A	43870071	2	1	23	1	0	0	0	0	0	0	0	1	2061	903	32	4		4	C1orf84	1	43870071	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	205853	43870071	205380550	140	16596										
HYI	81888	hgsc.bcm.edu	37	chr1	43917637	43917637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtccaggaagtactggggGtcagtgatgcgggtgttgat	18	5	1	2	rs2251802	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:43917637G>A	ENST00000372425.4	-	4	669	c.474C>T	c.(472-474)gaC>gaT	p.D158D	SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Silent_p.D158D|HYI_ENST00000372434.1_Silent_p.D183D|HYI_ENST00000486909.1_Silent_p.D158D|SZT2_ENST00000372442.1_3'UTR|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000583037.1_Silent_p.D85D|HYI_ENST00000372426.1_Silent_p.D110D			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	158							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTACTGGGGGTCAGTGATGC	0.597													G|||	1117	0.223043	0.1884	0.389	5008	,	,		18026	0.0784		0.4215	False		,,,				2504	0.0971				p.D183D		Atlas-SNP	.											.	HYI	23	.	0			c.C549T						PASS	.	G	,,	1028,3378	378.5+/-322.9	108,812,1283	106	111	109		474,,474	2.5	1	1	dbSNP_100	109	3560,5040	516.2+/-378.8	760,2040,1500	no	coding-synonymous,utr-3,coding-synonymous	SZT2,HYI	NM_001190880.2,NM_015284.3,NM_031207.5	,,	868,2852,2783	AA,AG,GG		41.3953,23.3318,35.276	,,	158/278,,158/248	43917637	4588,8418	2203	4300	6503	SO:0001819	synonymous_variant	81888	exon5			CTGGGGGTCAGTG		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.474C>T	1.37:g.43917637G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	129	32	0.248062	NM_001243526	D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Silent	SNP	ENST00000372425.4	37	CCDS53309.1	622	0.2847985347985348	103	0.20934959349593496	153	0.42265193370165743	46	0.08041958041958042	320	0.42216358839050133	G	9.510	1.105568	0.20632	0.233318	0.413953	ENSG00000178922	ENST00000470662;ENST00000487366	.	.	.	5.38	2.46	0.29980	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.45948	-0.9226	3	.	.	.	.	4.5099	0.11906	0.2125:0.0:0.5195:0.268	rs2251802;rs3184210;rs17400088;rs17404673;rs17851702;rs2251802	.	.	.	I	77;82	.	.	T	-	2	0	HYI	43690224	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	0.684000	0.25364	0.334000	0.23590	0.462000	0.41574	ACC	G|0.679;A|0.321	0.321	strong		0.597	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		A	43917637	G	A	43917637	2	1	23	1	0	0	0	0	0	0	0	1	7468	1252	44	2		2	HYI	1	43917637	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	47566	43917637	205332984	141	16597										
KIF2C	11004	hgsc.bcm.edu	37	chr1	45218895	45218895	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcaagtccattccatccgAggcagctcttctgcaaaccc	8	15	2	0	rs3795713	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45218895A>T	ENST00000372224.4	+	6	644	c.531A>T	c.(529-531)cgA>cgT	p.R177R	KIF2C_ENST00000372222.3_Silent_p.R64R|KIF2C_ENST00000372217.1_Silent_p.R123R|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372218.4_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	177	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTCCATCCGAGGCAGCTCTT	0.532													a|||	1435	0.286542	0.4818	0.2781	5008	,	,		22360	0.2857		0.1392	False		,,,				2504	0.181				p.R177R		Atlas-SNP	.											KIF2C,NS,carcinoma,+2,1	KIF2C	68	1	0			c.A531T						scavenged	.	A		1963,2443	554.2+/-379.0	456,1051,696	171	148	156		531	1.6	0.9	1	dbSNP_107	156	1457,7143	277.9+/-293.1	130,1197,2973	no	coding-synonymous	KIF2C	NM_006845.3		586,2248,3669	TT,TA,AA		16.9419,44.5529,26.2956		177/726	45218895	3420,9586	2203	4300	6503	SO:0001819	synonymous_variant	11004	exon6			CATCCGAGGCAGC	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.531A>T	1.37:g.45218895A>T		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	90	22	0.244444	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	CCDS512.1																																																																																			A|0.741;T|0.259	0.259	strong		0.532	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		T	45218895	A	T	45218895	2	4	23	1	0	0	0	0	0	0	0	1	8299	291	11	5		5	KIF2C	1	45218895	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1301258	45218895	204031726	142	16598										
KIF2C	11004	hgsc.bcm.edu	37	chr1	45226084	45226084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagggaatgagcgaggcgcGgacacttccagtgctgaccg	16	11	0	2	rs1140279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45226084G>A	ENST00000372224.4	+	15	1613	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A	KIF2C_ENST00000372222.3_Silent_p.A387A|KIF2C_ENST00000372217.1_Silent_p.A446A|KIF2C_ENST00000372218.4_Silent_p.A459A|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	500	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AGCGAGGCGCGGACACTTCCA	0.567													G|||	955	0.190695	0.1362	0.2464	5008	,	,		20856	0.2857		0.1382	False		,,,				2504	0.181				p.A500A		Atlas-SNP	.											KIF2C,NS,carcinoma,+2,1	KIF2C	68	1	0			c.G1500A						PASS	.	G		637,3769	273.4+/-271.3	49,539,1615	47	46	46		1500	-10.8	0.4	1	dbSNP_86	46	1450,7150	276.8+/-292.5	129,1192,2979	no	coding-synonymous	KIF2C	NM_006845.3		178,1731,4594	AA,AG,GG		16.8605,14.4576,16.0464		500/726	45226084	2087,10919	2203	4300	6503	SO:0001819	synonymous_variant	11004	exon15			AGGCGCGGACACT	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1500G>A	1.37:g.45226084G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	49	10	0.204082	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	CCDS512.1																																																																																			G|0.834;A|0.166	0.166	strong		0.567	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		A	45226084	G	A	45226084	2	1	23	1	0	0	0	0	0	0	0	1	8299	1103	39	1		1	KIF2C	1	45226084	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7189	45226084	204024537	143	16599										
PLK3	1263	hgsc.bcm.edu	37	chr1	45270024	45270024	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgacagcggaacagaacccGgcccccctggcccagccaga	11	17	0	3	rs11211036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45270024G>C	ENST00000372201.4	+	12	1595	c.1356G>C	c.(1354-1356)ccG>ccC	p.P452P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	452					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AACAGAACCCGGCCCCCCTGG	0.622													G|||	961	0.191893	0.1445	0.245	5008	,	,		16124	0.2857		0.1402	False		,,,				2504	0.1748				p.P452P		Atlas-SNP	.											.	PLK3	41	.	0			c.G1356C						PASS	.	G		628,3778	257.4+/-261.8	46,536,1621	65	75	72		1356	-10.9	0.1	1	dbSNP_120	72	1445,7155	268.9+/-288.1	131,1183,2986	no	coding-synonymous	PLK3	NM_004073.2		177,1719,4607	CC,CG,GG		16.8023,14.2533,15.9388		452/647	45270024	2073,10933	2203	4300	6503	SO:0001819	synonymous_variant	1263	exon12			GAACCCGGCCCCC	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1356G>C	1.37:g.45270024G>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	107	30	0.280374	NM_004073	Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	CCDS515.1																																																																																			G|0.828;C|0.172	0.172	strong		0.622	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		C	45270024	G	C	45270024	2	2	23	1	0	0	0	0	0	0	0	1	12097	1103	39	4		4	PLK3	1	45270024	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43940	45270024	203980597	144	16600										
PTCH2	8643	hgsc.bcm.edu	37	chr1	45294295	45294295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcgctgcagacactcgccCatgcgctcctgccaggacag	12	16	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45294295C>T	ENST00000372192.3	-	12	1603	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	PTCH2_ENST00000447098.2_Missense_Mutation_p.M491I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	491	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GACACTCGCCCATGCGCTCCT	0.632									Basal Cell Nevus syndrome																												p.M491I		Atlas-SNP	.											.	PTCH2	96	.	0			c.G1473A						PASS	.						71	55	60					1																	45294295		2202	4300	6502	SO:0001583	missense	8643	exon12	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	CTCGCCCATGCGC	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1473G>A	1.37:g.45294295C>T	ENSP00000361266:p.Met491Ile	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	67	4	0.0597015	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275107	0.40194	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.94184	-3.37;-3.37	4.47	-3.0	0.05480	Sterol-sensing domain (1);	0.196196	0.35320	N	0.003287	T	0.79776	0.4504	N	0.05467	-0.045	0.29800	N	0.832513	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.68228	-0.5464	10	0.18276	T	0.48	-34.0928	7.4614	0.27298	0.1257:0.1735:0.0:0.7008	.	491;491	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	I	491	ENSP00000389703:M491I;ENSP00000361266:M491I	ENSP00000361266:M491I	M	-	3	0	PTCH2	45066882	0.000000	0.05858	0.640000	0.29408	0.929000	0.56500	-3.137000	0.00588	-0.491000	0.06697	0.462000	0.41574	ATG	.	.	none		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		T	45294295	C	T	45294295	3	4	23	1	0	0	0	0	1	0	0	0	12731	594	21	2	2202	2	PTCH2	1	45294295	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24271	45294295	203956326	145	16601										
EIF2B3	8891	hgsc.bcm.edu	37	chr1	45444038	45444038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcagttcccatgtcagcGtcatcaggaatacacacaat	7	12	4	0	rs11556200	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45444038G>A	ENST00000360403.2	-	3	369	c.243C>T	c.(241-243)gaC>gaT	p.D81D	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Silent_p.D81D	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	81					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCATGTCAGCGTCATCAGGAA	0.363													A|||	1485	0.296526	0.4032	0.4265	5008	,	,		17307	0.2758		0.1998	False		,,,				2504	0.181				p.D81D	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											.	EIF2B3	43	.	0			c.C243T						PASS	.	A	,	1705,2701	653.0+/-399.5	345,1015,843	215	210	211		243,243	-4.9	0.8	1	dbSNP_120	211	1990,6610	723.2+/-406.4	234,1522,2544	no	coding-synonymous,coding-synonymous	EIF2B3	NM_001166588.1,NM_020365.3	,	579,2537,3387	AA,AG,GG		23.1395,38.6972,28.41	,	81/413,81/453	45444038	3695,9311	2203	4300	6503	SO:0001819	synonymous_variant	8891	exon3			GTCAGCGTCATCA	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.243C>T	1.37:g.45444038G>A		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	96	22	0.229167	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	CCDS517.1																																																																																			G|0.714;A|0.286	0.286	strong		0.363	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		A	45444038	G	A	45444038	2	1	23	1	0	0	0	0	0	0	0	1	5002	1136	40	1		1	EIF2B3	1	45444038	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	149743	45444038	203806583	146	16602										
ZSWIM5	57643	hgsc.bcm.edu	37	chr1	45504720	45504720	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccctccaggtttgtgatGgttgtggttcctctctgcaa	11	11	1	1	rs7551698	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:45504720G>C	ENST00000359600.5	-	8	1987	c.1782C>G	c.(1780-1782)acC>acG	p.T594T		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	594						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGTTTGTGATGGTTGTGGTTC	0.512													G|||	2556	0.510383	0.3805	0.4337	5008	,	,		17531	0.4544		0.6183	False		,,,				2504	0.6871				p.T594T		Atlas-SNP	.											ZSWIM5,NS,carcinoma,-1,1	ZSWIM5	72	1	0			c.C1782G						scavenged	.	G		1507,2257		326,855,701	72	75	74		1782	2	1	1	dbSNP_116	74	4900,3320		1473,1954,683	no	coding-synonymous	ZSWIM5	NM_020883.1		1799,2809,1384	CC,CG,GG		40.3893,40.0372,46.537		594/1186	45504720	6407,5577	1882	4110	5992	SO:0001819	synonymous_variant	57643	exon8			TGTGATGGTTGTG	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1782C>G	1.37:g.45504720G>C		Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	47	37	0.787234	NM_020883	Q5SXQ9	Silent	SNP	ENST00000359600.5	37	CCDS41319.1																																																																																			G|0.462;C|0.538	0.538	strong		0.512	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		C	45504720	G	C	45504720	2	2	23	1	0	0	0	0	0	0	0	1	18241	1335	47	4		4	ZSWIM5	1	45504720	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60682	45504720	203745901	147	16603										
POMGNT1	55624	hgsc.bcm.edu	37	chr1	46658217	46658217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaggcagagatgcagtaCaggctgtcatcctcctccag	10	13	1	1	rs41292143	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:46658217C>T	ENST00000371984.3	-	15	1414	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L	POMGNT1_ENST00000371986.3_Silent_p.L419L|POMGNT1_ENST00000535522.1_Silent_p.L397L|POMGNT1_ENST00000371992.1_Silent_p.L419L|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	419					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					AGATGCAGTACAGGCTGTCAT	0.522													C|||	14	0.00279553	0.0008	0.0029	5008	,	,		23221	0.0		0.0109	False		,,,				2504	0.0				p.L419L		Atlas-SNP	.											.	POMGNT1	96	.	0			c.G1257A						PASS	.	C		12,4394	19.1+/-41.9	0,12,2191	95	93	93		1257	-2.7	1	1	dbSNP_127	93	148,8452	73.2+/-135.9	1,146,4153	no	coding-synonymous	POMGNT1	NM_017739.3		1,158,6344	TT,TC,CC		1.7209,0.2724,1.2302		419/661	46658217	160,12846	2203	4300	6503	SO:0001819	synonymous_variant	55624	exon15			GCAGTACAGGCTG		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1257G>A	1.37:g.46658217C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	92	28	0.304348	NM_017739	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	CCDS531.1																																																																																			C|0.991;T|0.009	0.009	strong		0.522	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		T	46658217	C	T	46658217	2	4	23	1	0	0	0	0	0	0	0	1	12243	465	17	2		2	POMGNT1	1	46658217	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1153497	46658217	202592404	148	16604										
KNCN	148930	hgsc.bcm.edu	37	chr1	47013431	47013431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagccccccgggtccccgGcttcagcttctccagggtcc	10	20	3	0	rs61735709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:47013431G>A	ENST00000481882.2	-	4	657	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	KNCN_ENST00000396314.3_Missense_Mutation_p.P93S|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR			A6PVL3	KNCN_HUMAN	kinocilin	116						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					CGGGTCCCCGGCTTCAGCTTC	0.667													G|||	9	0.00179712	0.0	0.0014	5008	,	,		15347	0.0		0.008	False		,,,				2504	0.0				p.P93S		Atlas-SNP	.											.	KNCN	7	.	0			c.C277T						PASS	.	G	SER/PRO	6,4274		0,6,2134	9	10	10		277	0.7	1	1	dbSNP_129	10	87,8313		0,87,4113	yes	missense	KNCN	NM_001097611.1	74	0,93,6247	AA,AG,GG		1.0357,0.1402,0.7334	benign	93/102	47013431	93,12587	2140	4200	6340	SO:0001583	missense	148930	exon3			TCCCCGGCTTCAG	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.346C>T	1.37:g.47013431G>A	ENSP00000419705:p.Pro116Ser	Somatic	389	0	0		WXS	Illumina HiSeq	Phase_I	273	61	0.223443	NM_001097611	A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	37		9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	13.21	2.168955	0.38315	0.001402	0.010357	ENSG00000162456	ENST00000481882;ENST00000396314	.	.	.	3.73	0.731	0.18277	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.27084	N	0.963004	B	0.02656	0.0	B	0.08055	0.003	T	0.23190	-1.0195	7	0.59425	D	0.04	-1.3298	2.4743	0.04572	0.1074:0.1882:0.5104:0.194	.	93	A6PVL3-2	.	S	116;93	.	ENSP00000379607:P93S	P	-	1	0	KNCN	46786018	1.000000	0.71417	0.975000	0.42487	0.225000	0.24961	1.216000	0.32443	0.175000	0.19841	-0.314000	0.08810	CCG	G|0.995;A|0.005	0.005	strong		0.667	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		A	47013431	G	A	47013431	3	1	23	1	0	0	0	0	1	0	0	0	8425	1203	42	2	32	2	KNCN	1	47013431	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	355214	47013431	202237190	149	16605										
STIL	6491	hgsc.bcm.edu	37	chr1	47746678	47746678	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatttggtattcctctcaaGgaaggctctccagcttcaac	8	11	3	1	rs10789505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:47746678G>C	ENST00000360380.3	-	13	1815	c.1452C>G	c.(1450-1452)tcC>tcG	p.S484S	STIL_ENST00000371877.3_Silent_p.S484S|STIL_ENST00000396221.2_Silent_p.S484S|STIL_ENST00000337817.5_Silent_p.S484S|STIL_ENST00000243182.6_Silent_p.S484S	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	484					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCCTCTCAAGGAAGGCTCTC	0.438													G|||	1162	0.232029	0.3911	0.0677	5008	,	,		17252	0.3095		0.0905	False		,,,				2504	0.1994				p.S484S		Atlas-SNP	.											.	STIL	91	.	0			c.C1452G						PASS	.	G	,	1488,2918	477.4+/-357.9	243,1002,958	124	118	120		1452,1452	-3.3	0	1	dbSNP_120	120	658,7942	167.5+/-219.3	21,616,3663	no	coding-synonymous,coding-synonymous	STIL	NM_001048166.1,NM_003035.2	,	264,1618,4621	CC,CG,GG		7.6512,33.7721,16.5001	,	484/1289,484/1288	47746678	2146,10860	2203	4300	6503	SO:0001819	synonymous_variant	6491	exon12			TCTCAAGGAAGGC	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1452C>G	1.37:g.47746678G>C		Somatic	282	1	0.0035461		WXS	Illumina HiSeq	Phase_I	157	113	0.719745	NM_003035	Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	CCDS548.1	474	0.21703296703296704	203	0.41260162601626016	29	0.08011049723756906	178	0.3111888111888112	64	0.08443271767810026	G	2.296	-0.361387	0.05103	0.337721	0.076512	ENSG00000123473	ENST00000436811	.	.	.	5.14	-3.31	0.04988	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.47058	-0.9146	3	.	.	.	-3.396	1.0397	0.01556	0.3133:0.0919:0.2388:0.3561	rs10789505;rs10789505	.	.	.	V	18	.	.	L	-	1	0	STIL	47519265	0.001000	0.12720	0.001000	0.08648	0.594000	0.36715	0.169000	0.16641	-0.453000	0.07076	0.655000	0.94253	CTT	G|0.817;C|0.183	0.183	strong		0.438	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		C	47746678	G	C	47746678	2	2	23	1	0	0	0	0	0	0	0	1	15281	987	35	4		4	STIL	1	47746678	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	733247	47746678	201503943	150	16606										
SPATA6	54558	hgsc.bcm.edu	37	chr1	48865121	48865121	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggtgtcttcagatagctCacacatgcgtctttttgtgt	9	10	4	1	rs77303590	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:48865121C>T	ENST00000371847.3	-	7	846	c.682G>A	c.(682-684)Gag>Aag	p.E228K	SPATA6_ENST00000371843.3_Missense_Mutation_p.E228K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Missense_Mutation_p.E156K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	228					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCAGATAGCTCACACATGCGT	0.403													C|||	35	0.00698882	0.0008	0.0086	5008	,	,		15414	0.0		0.0219	False		,,,				2504	0.0061				p.E228K		Atlas-SNP	.											.	SPATA6	45	.	0			c.G682A						PASS	.	C	LYS/GLU	26,4380	32.6+/-62.9	0,26,2177	217	221	220		682	5.7	1	1	dbSNP_131	220	213,8387	90.4+/-152.6	5,203,4092	yes	missense	SPATA6	NM_019073.2	56	5,229,6269	TT,TC,CC		2.4767,0.5901,1.8376	probably-damaging	228/489	48865121	239,12767	2203	4300	6503	SO:0001583	missense	54558	exon7			ATAGCTCACACAT	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.682G>A	1.37:g.48865121C>T	ENSP00000360913:p.Glu228Lys	Somatic	318	1	0.00314465		WXS	Illumina HiSeq	Phase_I	221	159	0.719457	NM_019073	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	CCDS551.1	21	0.009615384615384616	0	0.0	4	0.011049723756906077	0	0.0	17	0.022427440633245383	C	25.7	4.660228	0.88154	0.005901	0.024767	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.53640	2.61;2.59;2.59;0.61	5.68	5.68	0.88126	.	0.112377	0.64402	D	0.000013	T	0.46541	0.1398	L	0.40543	1.245	0.42181	D	0.991682	D;D;D;D	0.71674	0.989;0.998;0.996;0.996	D;D;D;D	0.80764	0.915;0.994;0.917;0.917	T	0.58645	-0.7600	10	0.66056	D	0.02	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	156;156;228;228	B4DX17;A8MU33;Q9NWH7-2;Q9NWH7	.;.;.;SPAT6_HUMAN	K	228;228;156;69	ENSP00000360913:E228K;ENSP00000360909:E228K;ENSP00000379502:E156K;ENSP00000360907:E69K	ENSP00000360907:E69K	E	-	1	0	SPATA6	48637708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.807000	0.55591	2.683000	0.91414	0.555000	0.69702	GAG	C|0.983;T|0.017	0.017	strong		0.403	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		T	48865121	C	T	48865121	3	4	23	1	0	0	0	0	1	0	0	0	15012	835	29	2	812	2	SPATA6	1	48865121	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1118443	48865121	200385500	151	16607										
TTC39A	22996	hgsc.bcm.edu	37	chr1	51767352	51767352	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccagtagcacatgtggtgGaactgcttccagtgctgctg	12	11	0	0	rs41287290	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:51767352G>A	ENST00000447632.2	-	12	1101	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000262675.7_Silent_p.F288F|TTC39A_ENST00000413473.2_Silent_p.F319F|TTC39A_ENST00000371750.5_Silent_p.F316F|TTC39A_ENST00000371747.3_Silent_p.F350F|TTC39A_ENST00000451380.1_Silent_p.F315F			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	351								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ACATGTGGTGGAACTGCTTCC	0.602													G|||	267	0.0533147	0.0106	0.0836	5008	,	,		20364	0.0		0.1441	False		,,,				2504	0.0511				p.F319F		Atlas-SNP	.											TTC39A,colon,carcinoma,0,2	TTC39A	40	2	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.C957T						PASS	.	G	,	99,4159		1,97,2031	67	70	69		948,957	0.7	1	1	dbSNP_127	69	1047,7399		70,907,3246	no	coding-synonymous,coding-synonymous	TTC39A	NM_001080494.2,NM_001144832.1	,	71,1004,5277	AA,AG,GG		12.3964,2.325,9.0208	,	316/579,319/582	51767352	1146,11558	2129	4223	6352	SO:0001819	synonymous_variant	22996	exon12			GTGGTGGAACTGC	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1053C>T	1.37:g.51767352G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	88	29	0.329545	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	ENST00000447632.2	37																																																																																				A|0.083;C|0.000;G|0.917	0.083	strong		0.602	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			A	51767352	G	A	51767352	2	1	23	1	0	0	0	0	0	0	0	1	16704	1165	41	2		2	TTC39A	1	51767352	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2902231	51767352	197483269	152	16608										
EPS15	2060	hgsc.bcm.edu	37	chr1	51826921	51826921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagtgaatggatcacaaaaTatttcaggatctttttcttt	7	5	4	1	rs17567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:51826921T>C	ENST00000371733.3	-	24	2562	c.2466A>G	c.(2464-2466)atA>atG	p.I822M	EPS15_ENST00000396122.4_Missense_Mutation_p.I499M|EPS15_ENST00000371730.2_Missense_Mutation_p.I688M	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	822	15 X 3 AA repeats of D-P-F.|Pro-rich.		I -> M (in dbSNP:rs17567). {ECO:0000269|PubMed:8183552}.		cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GATCACAAAATATTTCAGGAT	0.408			T	MLL	ALL								C|||	1169	0.233427	0.5673	0.1643	5008	,	,		18708	0.0119		0.2038	False		,,,				2504	0.09				p.I822M		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	EPS15	72	.	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.A2466G						PASS	.	C	MET/ILE,MET/ILE	2266,2140	579.9+/-385.0	583,1100,520	160	153	155		1524,2466	5.8	1	1	dbSNP_63	155	1982,6618	723.4+/-406.5	228,1526,2546	yes	missense,missense	EPS15	NM_001159969.1,NM_001981.2	10,10	811,2626,3066	CC,CT,TT		23.0465,48.5701,32.6618	benign,benign	508/583,822/897	51826921	4248,8758	2203	4300	6503	SO:0001583	missense	2060	exon24			ACAAAATATTTCA	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2466A>G	1.37:g.51826921T>C	ENSP00000360798:p.Ile822Met	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	129	89	0.689922	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	512	0.23443223443223443	284	0.5772357723577236	57	0.1574585635359116	11	0.019230769230769232	160	0.21108179419525067	C	11.41	1.631297	0.28978	0.514299	0.230465	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.42131	0.98;0.98;0.98	5.85	5.85	0.93711	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.42189	-0.9466	8	0.32370	T	0.25	.	8.8043	0.34927	0.0:0.8244:0.0:0.1756	rs17567;rs12753160;rs17846526;rs17859599;rs52820243;rs58525844;rs17567	688;822;508	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	M	688;822;499	ENSP00000360795:I688M;ENSP00000360798:I822M;ENSP00000379428:I499M	ENSP00000360795:I688M	I	-	3	3	EPS15	51599509	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	0.672000	0.25187	1.492000	0.48499	-0.186000	0.12905	ATA	T|0.702;C|0.298	0.298	strong		0.408	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		C	51826921	T	C	51826921	3	2	23	1	0	0	0	0	1	0	0	0	5192	1396	49	2	232	2	EPS15	1	51826921	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	59569	51826921	197423700	153	16609										
EPS15	2060	hgsc.bcm.edu	37	chr1	51912760	51912760	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcatatttagctttttcTgcaggggatacaacccacta	6	10	3	0	rs34704431	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:51912760T>G	ENST00000371733.3	-	10	765	c.669A>C	c.(667-669)gcA>gcC	p.A223A	EPS15_ENST00000371730.2_Silent_p.A223A	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	223	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TAGCTTTTTCTGCAGGGGATA	0.363			T	MLL	ALL								T|||	235	0.0469249	0.0983	0.0274	5008	,	,		17178	0.0109		0.0328	False		,,,				2504	0.0429				p.A223A		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	EPS15,NS,carcinoma,-2,1	EPS15	72	1	1	Whole gene deletion(1)	central_nervous_system(1)	c.A669C						PASS	.	T		349,4057	178.3+/-207.1	14,321,1868	94	97	96		669	2.1	1	1	dbSNP_126	96	273,8327	103.1+/-164.3	4,265,4031	no	coding-synonymous	EPS15	NM_001981.2		18,586,5899	GG,GT,TT		3.1744,7.921,4.7824		223/897	51912760	622,12384	2203	4300	6503	SO:0001819	synonymous_variant	2060	exon10			TTTTTCTGCAGGG	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.669A>C	1.37:g.51912760T>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	35	26	0.742857	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	CCDS557.1																																																																																			T|0.955;G|0.045	0.045	strong		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		G	51912760	T	G	51912760	2	3	23	1	0	0	0	0	0	0	0	1	5192	1567	55	5		5	EPS15	1	51912760	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	85839	51912760	197337861	154	16610										
ZCCHC11	23318	hgsc.bcm.edu	37	chr1	52956410	52956410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattgttaccaacctttttCgatctctgcacaccacaaca	3	14	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:52956410C>T	ENST00000371544.3	-	8	1644	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R461Q|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	461					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACCTTTTTCGATCTCTGCA	0.294																																					p.R461Q		Atlas-SNP	.											ZCCHC11,NS,carcinoma,0,2	ZCCHC11	151	2	0			c.G1382A						scavenged	.						56	57	57					1																	52956410		2202	4299	6501	SO:0001583	missense	23318	exon8			CTTTTTCGATCTC	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1382G>A	1.37:g.52956410C>T	ENSP00000360599:p.Arg461Gln	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	156	3	0.0192308	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318548	0.40996	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	6.08	2.99	0.34606	.	0.689968	0.13204	N	0.405736	T	0.12092	0.0294	N	0.05487	-0.04	0.80722	D	1	P;B;P	0.45348	0.777;0.414;0.856	B;B;B	0.33254	0.072;0.068;0.16	T	0.07673	-1.0760	10	0.12430	T	0.62	.	4.0377	0.09737	0.2156:0.4506:0.0:0.3338	.	220;461;461	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	Q	461;461;461;220	ENSP00000257177:R461Q;ENSP00000360599:R461Q;ENSP00000433486:R461Q;ENSP00000435256:R220Q	ENSP00000257177:R461Q	R	-	2	0	ZCCHC11	52728998	0.951000	0.32395	1.000000	0.80357	0.991000	0.79684	0.396000	0.20867	0.907000	0.36646	0.655000	0.94253	CGA	.	.	none		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		T	52956410	C	T	52956410	3	4	23	1	0	0	0	0	1	0	0	0	17577	884	31	1	3647	1	ZCCHC11	1	52956410	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1043650	52956410	196294211	155	16611										
PODN	127435	hgsc.bcm.edu	37	chr1	53535499	53535499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagccctggcgcccaggcgCatctgactcggcaccccctg	11	19	2	1	rs17107831	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:53535499C>T	ENST00000312553.5	+	2	123	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PODN_ENST00000395871.2_Missense_Mutation_p.A39V|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.A20V	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	0					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCCCAGGCGCATCTGACTCG	0.687													C|||	324	0.0646965	0.0862	0.0533	5008	,	,		15647	0.0417		0.0457	False		,,,				2504	0.0869				p.A39V		Atlas-SNP	.											.	PODN	86	.	0			c.C116T						PASS	.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	295,4013		14,267,1873	9	11	10		59,59,116,116	-2.8	0	1	dbSNP_123	10	425,8051		12,401,3825	yes	missense,missense,missense,missense	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	64,64,64,64	26,668,5698	TT,TC,CC		5.0142,6.8477,5.632	benign,benign,benign,benign	20/643,20/643,39/520,39/662	53535499	720,12064	2154	4238	6392	SO:0001583	missense	127435	exon2			CAGGCGCATCTGA	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.116C>T	1.37:g.53535499C>T	ENSP00000308315:p.Ala39Val	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	73	19	0.260274	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	124	0.056776556776556776	42	0.08536585365853659	25	0.06906077348066299	20	0.03496503496503497	37	0.048812664907651716	C	10.10	1.257525	0.22965	0.068477	0.050142	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.61627	0.86;0.09;0.88	2.97	-2.79	0.05841	.	2.383590	0.01887	N	0.038265	T	0.02119	0.0066	.	.	.	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.20767	0.031;0.019;0.031	T	0.10989	-1.0606	9	0.49607	T	0.09	.	4.4141	0.11447	0.5121:0.1939:0.294:0.0	rs17107831;rs17107831	39;20;39	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	V	20;39;39	ENSP00000360555:A20V;ENSP00000379212:A39V;ENSP00000308315:A39V	ENSP00000308315:A39V	A	+	2	0	PODN	53308087	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.018000	0.03626	-0.522000	0.06417	-0.479000	0.04858	GCA	C|0.933;T|0.067	0.067	strong		0.687	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535499	C	T	53535499	3	4	23	1	0	0	0	0	1	0	0	0	12178	710	25	2	122	2	PODN	1	53535499	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	579089	53535499	195715122	156	16612										
CPT2	1376	hgsc.bcm.edu	37	chr1	53668099	53668099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaacatacaagctacatttCgggtaggtaggctgggctgt	12	7	0	0	rs74315294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:53668099C>T	ENST00000371486.3	+	3	853	c.338C>T	c.(337-339)tCg>tTg	p.S113L	CPT2_ENST00000468572.1_3'UTR	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	113			S -> L (in CPT2D; muscular form; frequent mutation; dbSNP:rs74315294). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15622536, ECO:0000269|PubMed:8358442, ECO:0000269|PubMed:9758712}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGCTACATTTCGGGTAGGTAG	0.418													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		20386	0.0		0.001	False		,,,				2504	0.0				p.S113L		Atlas-SNP	.											CPT2,right_upper_lobe,carcinoma,0,1	CPT2	34	1	0			c.C338T	GRCh37	CM930171	CPT2	M	rs74315294	PASS	.	C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	92	89	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	338	5.9	1	1	dbSNP_131	90	16,8584	11.9+/-42.8	0,16,4284	yes	missense	CPT2	NM_000098.2	145	0,18,6485	TT,TC,CC		0.186,0.0454,0.1384	probably-damaging	113/659	53668099	18,12988	2203	4300	6503	SO:0001583	missense	1376	exon3			ACATTTCGGGTAG	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.338C>T	1.37:g.53668099C>T	ENSP00000360541:p.Ser113Leu	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	123	78	0.634146	NM_000098	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	33	5.265643	0.95399	4.54E-4	0.00186	ENSG00000157184	ENST00000371486	D	0.90676	-2.71	5.88	5.88	0.94601	.	0.064942	0.64402	D	0.000004	D	0.96889	0.8984	H	0.94306	3.52	0.80722	A	1	D	0.76494	0.999	D	0.73708	0.981	D	0.97157	0.9835	9	0.66056	D	0.02	-1.9784	19.8509	0.96740	0.0:1.0:0.0:0.0	.	113	P23786	CPT2_HUMAN	L	113	ENSP00000360541:S113L	ENSP00000360541:S113L	S	+	2	0	CPT2	53440687	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.952000	0.75989	2.797000	0.96272	0.561000	0.74099	TCG	C|0.999;T|0.001	0.001	strong		0.418	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		T	53668099	C	T	53668099	3	4	23	1	0	0	0	0	1	0	0	0	3834	893	31	1	348	1	CPT2	1	53668099	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	132600	53668099	195582522	157	16613										
CPT2	1376	hgsc.bcm.edu	37	chr1	53679229	53679229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagaaggccttagaagacAtgtttgatgccttagaaggc	13	6	0	5	rs1799822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:53679229A>G	ENST00000371486.3	+	5	2454	c.1939A>G	c.(1939-1941)Atg>Gtg	p.M647V	RP5-1024G6.2_ENST00000452466.1_RNA|C1orf123_ENST00000470385.1_5'Flank	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	647			M -> V (common polymorphism; confirmed at protein level; dbSNP:rs1799822). {ECO:0000269|PubMed:14605500, ECO:0000269|PubMed:1528846, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17488105, ECO:0000269|PubMed:18306170, ECO:0000269|PubMed:9600456, ECO:0000269|PubMed:9758712}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTAGAAGACATGTTTGATGC	0.483													A|||	503	0.100439	0.0227	0.1542	5008	,	,		20518	0.0853		0.2068	False		,,,				2504	0.0736				p.M647V		Atlas-SNP	.											.	CPT2	34	.	0			c.A1939G						PASS	.	A	VAL/MET	240,4166	140.8+/-176.2	7,226,1970	88	80	83		1939	5.9	1	1	dbSNP_89	83	1937,6663	341.9+/-324.3	208,1521,2571	yes	missense	CPT2	NM_000098.2	21	215,1747,4541	GG,GA,AA		22.5233,5.4471,16.7384	benign	647/659	53679229	2177,10829	2203	4300	6503	SO:0001583	missense	1376	exon5			GAAGACATGTTTG	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1939A>G	1.37:g.53679229A>G	ENSP00000360541:p.Met647Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	59	42	0.711864	NM_000098	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	280	0.1282051282051282	14	0.028455284552845527	68	0.1878453038674033	54	0.0944055944055944	144	0.18997361477572558	A	17.02	3.280726	0.59758	0.054471	0.225233	ENSG00000157184	ENST00000371486	D	0.90133	-2.62	5.9	5.9	0.94986	.	0.189419	0.56097	D	0.000031	T	0.00178	0.0005	L	0.31752	0.955	0.23371	P	0.99781582	B	0.09022	0.002	B	0.13407	0.009	T	0.11665	-1.0578	9	0.44086	T	0.13	-32.7754	16.3322	0.83039	1.0:0.0:0.0:0.0	rs1799822;rs17377870;rs17848486;rs17849929;rs17857680;rs52797123;rs1799822	647	P23786	CPT2_HUMAN	V	647	ENSP00000360541:M647V	ENSP00000360541:M647V	M	+	1	0	CPT2	53451817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.251000	0.74343	0.528000	0.53228	ATG	A|0.854;G|0.146	0.146	strong		0.483	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		G	53679229	A	G	53679229	3	3	23	1	0	0	0	0	1	0	0	0	3834	217	8	2	1957	2	CPT2	1	53679229	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11130	53679229	195571392	158	16614										
GLIS1	148979	hgsc.bcm.edu	37	chr1	54060248	54060248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggccccccagatctcccgTcagaggggggctccggagtc	15	15	2	2	rs4307514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:54060248T>C	ENST00000312233.2	-	3	894	c.328A>G	c.(328-330)Acg>Gcg	p.T110A		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGATCTCCCGTCAGAGGGGGG	0.657													C|||	1076	0.214856	0.1074	0.1599	5008	,	,		16057	0.1885		0.2962	False		,,,				2504	0.3425				p.T110A		Atlas-SNP	.											GLIS1,NS,carcinoma,0,1	GLIS1	52	1	0			c.A328G						PASS	.	C	ALA/THR	469,3885		39,391,1747	20	25	24		328	1.8	0.7	1	dbSNP_111	24	2634,5870		442,1750,2060	yes	missense	GLIS1	NM_147193.2	58	481,2141,3807	CC,CT,TT		30.9737,10.7717,24.1328	benign	110/621	54060248	3103,9755	2177	4252	6429	SO:0001583	missense	148979	exon3			CTCCCGTCAGAGG	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.328A>G	1.37:g.54060248T>C	ENSP00000309653:p.Thr110Ala	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	92	66	0.717391	NM_147193		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	469	0.21474358974358973	59	0.11991869918699187	66	0.18232044198895028	114	0.1993006993006993	230	0.3034300791556728	C	4.520	0.096571	0.08681	0.107717	0.309737	ENSG00000174332	ENST00000312233	T	0.09163	3.01	4.8	1.81	0.25067	.	0.384219	0.22553	N	0.058568	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47649	-0.9101	9	0.05436	T	0.98	.	5.5009	0.16829	0.0701:0.1254:0.5527:0.2518	rs4307514	110	Q8NBF1	GLIS1_HUMAN	A	110	ENSP00000309653:T110A	ENSP00000309653:T110A	T	-	1	0	GLIS1	53832836	0.999000	0.42202	0.685000	0.30070	0.006000	0.05464	0.857000	0.27831	0.041000	0.15688	-1.109000	0.02080	ACG	T|0.751;C|0.249	0.249	strong		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		C	54060248	T	C	54060248	3	2	23	1	0	0	0	0	1	0	0	0	6445	1667	58	2	1566	2	GLIS1	1	54060248	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	381019	54060248	195190373	159	16615										
LRRC42	115353	hgsc.bcm.edu	37	chr1	54432019	54432019	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagctgtgaagccacgggaGacctcggagcctagagcagc	15	11	0	3	rs2294514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:54432019G>A	ENST00000371370.3	+	8	1499	c.978G>A	c.(976-978)gaG>gaA	p.E326E	LRRC42_ENST00000319223.4_Silent_p.E326E|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	326										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AGCCACGGGAGACCTCGGAGC	0.443													A|||	1301	0.259784	0.7163	0.1254	5008	,	,		19363	0.0605		0.1451	False		,,,				2504	0.0613				p.E326E		Atlas-SNP	.											.	LRRC42	29	.	0			c.G978A						PASS	.	A		2618,1788	526.7+/-371.9	781,1056,366	90	95	93		978	1.2	0	1	dbSNP_100	93	1291,7309	759.0+/-407.5	105,1081,3114	yes	coding-synonymous	LRRC42	NM_052940.3		886,2137,3480	AA,AG,GG		15.0116,40.581,30.0554		326/429	54432019	3909,9097	2203	4300	6503	SO:0001819	synonymous_variant	115353	exon7			ACGGGAGACCTCG	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.978G>A	1.37:g.54432019G>A		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	103	70	0.679612	NM_052940	D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	CCDS585.1																																																																																			G|0.708;A|0.292	0.292	strong		0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		A	54432019	G	A	54432019	2	1	23	1	0	0	0	0	0	0	0	1	9000	933	33	2		2	LRRC42	1	54432019	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	371771	54432019	194818602	160	16616										
CYB5RL	606495	hgsc.bcm.edu	37	chr1	54661150	54661150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcttgggctgcctcccacCttgccagatctcggtgatag	12	13	1	2	rs946448	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:54661150C>T	ENST00000534324.1	-	1	139	c.140G>A	c.(139-141)aGg>aAg	p.R47K	CYB5RL_ENST00000401046.3_5'UTR|MRPL37_ENST00000487096.1_Intron|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.R47K|CYB5RL_ENST00000537208.1_Missense_Mutation_p.R47K|CYB5RL_ENST00000542737.1_Missense_Mutation_p.R47K|CYB5RL_ENST00000419823.2_Missense_Mutation_p.R47K|CYB5RL_ENST00000287899.8_Missense_Mutation_p.R47K|CYB5RL_ENST00000497820.1_Missense_Mutation_p.R47K			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	47	Oxidoreductase-like.		R -> K (in dbSNP:rs946448). {ECO:0000269|PubMed:15489334}.				cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCCTCCCACCTTGCCAGATC	0.607													C|||	1584	0.316294	0.2118	0.3213	5008	,	,		14903	0.255		0.3519	False		,,,				2504	0.4806				p.R47K		Atlas-SNP	.											.	CYB5RL	17	.	0			c.G140A						PASS	.	C	LYS/ARG	875,3219		95,685,1267	46	48	47		140	4.2	1	1	dbSNP_86	47	2866,5494		514,1838,1828	yes	missense	CYB5RL	NM_001031672.2	26	609,2523,3095	TT,TC,CC		34.2823,21.3727,30.0385	benign	47/316	54661150	3741,8713	2047	4180	6227	SO:0001583	missense	606495	exon3			TCCCACCTTGCCA		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.140G>A	1.37:g.54661150C>T	ENSP00000434343:p.Arg47Lys	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	45	26	0.577778	NM_001031672	B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	669	0.30631868131868134	110	0.22357723577235772	144	0.39779005524861877	143	0.25	272	0.35883905013192613	C	20.2	3.956210	0.73902	0.213727	0.342823	ENSG00000215883	ENST00000419823;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208;ENST00000497820	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.17	4.24	0.50183	Oxidoreductase-like, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.26092	0.79	0.42558	P	0.006867999999999985	B	0.26775	0.159	B	0.24848	0.056	T	0.41088	-0.9528	8	0.29301	T	0.29	.	8.214	0.31501	0.0:0.8334:0.0:0.1666	rs946448;rs3737834;rs17390104;rs60484336;rs946448	47	Q6IPT4	NB5R5_HUMAN	K	47	ENSP00000409075:R47K;ENSP00000434343:R47K;ENSP00000287899:R47K;ENSP00000438151:R47K;ENSP00000443797:R47K;ENSP00000431157:R47K	ENSP00000287899:R47K	R	-	2	0	CYB5RL	54433738	0.172000	0.23043	1.000000	0.80357	0.997000	0.91878	0.880000	0.28159	2.689000	0.91719	0.561000	0.74099	AGG	C|0.708;T|0.292	0.292	strong		0.607	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		T	54661150	C	T	54661150	3	4	23	1	0	0	0	0	1	0	0	0	4130	681	24	2	831	2	CYB5RL	1	54661150	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	229131	54661150	194589471	161	16617										
C1orf175	374977	hgsc.bcm.edu	37	chr1	55119144	55119144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacccatttataaggcaccAttccagagaaggtctggttc	8	10	1	1	rs11206407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:55119144A>G	ENST00000421030.2	+	3	830	c.545A>G	c.(544-546)cAt>cGt	p.H182R	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.H182R|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.H182R|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.H182R	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	182			H -> R (in dbSNP:rs11206407). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATAAGGCACCATTCCAGAGAA	0.453													A|||	1556	0.310703	0.1596	0.268	5008	,	,		20536	0.5188		0.3708	False		,,,				2504	0.2689				p.H182R		Atlas-SNP	.											HEATR8_ENST00000421030,colon,carcinoma,0,2	.	.	2	0			c.A545G						PASS	.	A	ARG/HIS	705,3091		67,571,1260	82	78	79		545	-3.6	0	1	dbSNP_120	79	2809,5439		456,1897,1771	yes	missense	HEATR8	NM_001039464.2	29	523,2468,3031	GG,GA,AA		34.0567,18.5722,29.1764	benign	182/1324	55119144	3514,8530	1898	4124	6022	SO:0001583	missense	374977	exon3			GGCACCATTCCAG	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.545A>G	1.37:g.55119144A>G	ENSP00000396622:p.His182Arg	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	79	78	0.987342	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	CCDS41342.2	757	0.3466117216117216	77	0.1565040650406504	96	0.26519337016574585	306	0.534965034965035	278	0.36675461741424803	A	8.507	0.865663	0.17250	0.185722	0.340567	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02446	4.83;4.29;4.3	3.39	-3.58	0.04597	.	1.199260	0.06503	N	0.736707	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33420	-0.9869	9	0.37606	T	0.19	.	1.0236	0.01523	0.2638:0.1581:0.3633:0.2148	rs11206407;rs56541778;rs57235564;rs11206407	182;182;182	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	R	182	ENSP00000396622:H182R;ENSP00000343211:H182R;ENSP00000379044:H182R	ENSP00000343211:H182R	H	+	2	0	HEATR8	54891732	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.714000	0.05002	-0.805000	0.04404	-0.441000	0.05720	CAT	A|0.655;G|0.344	0.344	strong		0.453	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		G	55119144	A	G	55119144	3	3	23	1	0	0	0	0	1	0	0	0	2016	217	8	2	547	2	C1orf175	1	55119144	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	457994	55119144	194131477	162	16618										
C1orf175	374977	hgsc.bcm.edu	37	chr1	55166842	55166842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggtgaaggccctcctgccCtccatggtgaagggcctgaa	13	12	0	3	rs1065173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:55166842C>T	ENST00000421030.2	+	19	3417	c.3132C>T	c.(3130-3132)ccC>ccT	p.P1044P	MROH7-TTC4_ENST00000414150.2_Silent_p.P1044P|MROH7_ENST00000454855.2_Silent_p.P562P|MROH7_ENST00000409996.1_Silent_p.P612P	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1044						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.P1044P(2)|p.P1041P(1)									CCCTCCTGCCCTCCATGGTGA	0.587													C|||	1252	0.25	0.264	0.2248	5008	,	,		20949	0.1141		0.3191	False		,,,				2504	0.318				p.P1044P		Atlas-SNP	.											HEATR8_ENST00000421030,NS,carcinoma,0,2	.	.	2	3	Substitution - coding silent(3)	prostate(3)	c.C3132T						PASS	.	C		1058,3036		132,794,1121	66	70	69		3132	-1.7	1	1	dbSNP_86	69	2549,5863		376,1797,2033	no	coding-synonymous	HEATR8	NM_001039464.2		508,2591,3154	TT,TC,CC		30.3019,25.8427,28.8422		1044/1324	55166842	3607,8899	2047	4206	6253	SO:0001819	synonymous_variant	374977	exon19			CCTGCCCTCCATG	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3132C>T	1.37:g.55166842C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	91	26	0.285714	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																			C|0.744;T|0.256	0.256	strong		0.587	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		T	55166842	C	T	55166842	2	4	23	1	0	0	0	0	0	0	0	1	2016	668	24	2		2	C1orf175	1	55166842	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47698	55166842	194083779	163	16619										
TTC4	7268	hgsc.bcm.edu	37	chr1	55182300	55182300	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaggtccccctatttatgTcgagagcgccatcagaaatt	8	10	1	2	rs1147990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:55182300T>A	ENST00000371281.3	+	2	226	c.139T>A	c.(139-141)Tcg>Acg	p.S47T	MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.C1282*|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	47			S -> T (in dbSNP:rs1147990). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.							breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CCTATTTATGTCGAGAGCGCC	0.408													A|||	3347	0.668331	0.5038	0.6081	5008	,	,		20068	0.9683		0.5477	False		,,,				2504	0.7485				p.S47T		Atlas-SNP	.											TTC4,NS,carcinoma,-2,1	TTC4	21	1	0			c.T139A						PASS	.	A	THR/SER	2432,1974	555.1+/-379.2	673,1086,444	89	89	89		139	4.9	1	1	dbSNP_87	89	4395,4205	570.7+/-389.4	1119,2157,1024	yes	missense	TTC4	NM_004623.4	58	1792,3243,1468	AA,AT,TT		48.8953,44.8025,47.5088	benign	47/388	55182300	6827,6179	2203	4300	6503	SO:0001583	missense	7268	exon2			TTTATGTCGAGAG		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.139T>A	1.37:g.55182300T>A	ENSP00000360329:p.Ser47Thr	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	44	43	0.977273	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	CCDS596.1	1449	0.6634615384615384	277	0.5630081300813008	214	0.5911602209944752	556	0.972027972027972	402	0.5303430079155673	A	10.97	1.502706	0.26949	0.551975	0.511047	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.12569	2.67	4.92	4.92	0.64577	.	.	.	.	.	T	0.00012	0.0000	N	0.03050	-0.425	0.52099	P	5.599999999994498E-5	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.38714	-0.9648	8	0.02654	T	1	-7.8097	9.6171	0.39698	0.8434:0.0:0.0:0.1566	rs1147990;rs1623164;rs17856041;rs56423771;rs56930428;rs1147990	47;58	O95801;Q5TA95	TTC4_HUMAN;.	T	47;58	ENSP00000360329:S47T	ENSP00000360329:S47T	S	+	1	0	TTC4	54954888	1.000000	0.71417	0.996000	0.52242	0.591000	0.36615	5.925000	0.70062	1.011000	0.39340	-0.257000	0.10917	TCG	T|0.395;A|0.605	0.605	strong		0.408	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		A	55182300	T	A	55182300	3	1	23	1	0	0	0	0	1	0	0	0	16707	1667	58	5	145	5	TTC4	1	55182300	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	15458	55182300	194068321	164	16620										
MYSM1	114803	hgsc.bcm.edu	37	chr1	59127086	59127086	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagtacatacctatgggaGagcctgtatttttctattat	7	8	1	1	rs7523134	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:59127086G>A	ENST00000472487.1	-	18	2301	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	754					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACCTATGGGAGAGCCTGTATT	0.353													G|||	1241	0.247804	0.1339	0.2421	5008	,	,		17586	0.3095		0.2843	False		,,,				2504	0.3047				p.L754L		Atlas-SNP	.											.	MYSM1	50	.	0			c.C2262T						PASS	.	G		636,3036		55,526,1255	179	164	168		2262	-10.3	0.1	1	dbSNP_116	168	2406,5750		365,1676,2037	no	coding-synonymous	MYSM1	NM_001085487.2		420,2202,3292	AA,AG,GG		29.4998,17.3203,25.7186		754/829	59127086	3042,8786	1836	4078	5914	SO:0001819	synonymous_variant	114803	exon18			ATGGGAGAGCCTG	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2262C>T	1.37:g.59127086G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001085487	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	CCDS41343.1																																																																																			G|0.742;A|0.258	0.258	strong		0.353	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		A	59127086	G	A	59127086	2	1	23	1	0	0	0	0	0	0	0	1	10101	929	33	2		2	MYSM1	1	59127086	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3944786	59127086	190123535	165	16621										
C1orf87	127795	hgsc.bcm.edu	37	chr1	60503762	60503762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactgtttaaaaaccagagTagcttttcataattcacctg	6	9	2	1	rs17560663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:60503762T>C	ENST00000371201.3	-	6	872	c.765A>G	c.(763-765)ctA>ctG	p.L255L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	255							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAACCAGAGTAGCTTTTCAT	0.353													T|||	404	0.0806709	0.0113	0.1282	5008	,	,		17242	0.0218		0.1859	False		,,,				2504	0.093				p.L255L	NSCLC(75;811 1386 4923 13371 51772)	Atlas-SNP	.											.	C1orf87	55	.	0			c.A765G						PASS	.	T		151,4255	102.5+/-141.1	4,143,2056	75	69	71		765	-4	0.9	1	dbSNP_123	71	1480,7120	279.8+/-294.2	137,1206,2957	no	coding-synonymous	C1orf87	NM_152377.2		141,1349,5013	CC,CT,TT		17.2093,3.4271,12.5404		255/547	60503762	1631,11375	2203	4300	6503	SO:0001819	synonymous_variant	127795	exon6			CCAGAGTAGCTTT	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.765A>G	1.37:g.60503762T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	33	31	0.939394	NM_152377	Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	CCDS614.1																																																																																			T|0.897;C|0.103	0.103	strong		0.353	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		C	60503762	T	C	60503762	2	2	23	1	0	0	0	0	0	0	0	1	2064	1625	57	2		2	C1orf87	1	60503762	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1376676	60503762	188746859	166	16622										
INADL	10207	hgsc.bcm.edu	37	chr1	62257036	62257036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaggacagttctctttttgAaacttataatgttgagcttg	8	5	1	2	rs1286823	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:62257036A>C	ENST00000371158.2	+	9	1199	c.1085A>C	c.(1084-1086)gAa>gCa	p.E362A	INADL_ENST00000316485.6_Missense_Mutation_p.E362A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	362			E -> A (in dbSNP:rs1286823).		cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTCTTTTTGAAACTTATAAT	0.338													A|||	231	0.0461262	0.0061	0.0634	5008	,	,		18379	0.0248		0.1243	False		,,,				2504	0.0297				p.E362A		Atlas-SNP	.											.	INADL	179	.	0			c.A1085C						PASS	.	A	ALA/GLU	96,4310	76.8+/-115.0	1,94,2108	94	98	97		1085	5.2	1	1	dbSNP_87	97	989,7611	214.1+/-253.8	57,875,3368	yes	missense	INADL	NM_176877.2	107	58,969,5476	CC,CA,AA		11.5,2.1788,8.3423	possibly-damaging	362/1802	62257036	1085,11921	2203	4300	6503	SO:0001583	missense	10207	exon9			TTTTTGAAACTTA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1085A>C	1.37:g.62257036A>C	ENSP00000360200:p.Glu362Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	46	10	0.217391	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	140	0.0641025641025641	7	0.014227642276422764	33	0.09116022099447514	11	0.019230769230769232	89	0.11741424802110818	A	12.41	1.930837	0.34096	0.021788	0.115	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.18960	2.18;2.18	5.17	5.17	0.71159	PDZ/DHR/GLGF (1);	0.066816	0.56097	D	0.000031	T	0.00412	0.0013	L	0.29908	0.895	0.09310	P	1.0	D;P;P	0.55605	0.972;0.72;0.796	D;P;P	0.64506	0.926;0.643;0.826	T	0.05194	-1.0900	9	0.59425	D	0.04	.	10.4154	0.44318	0.8544:0.0:0.0:0.1456	rs1286823;rs1620006;rs52804250;rs1286823	362;362;362	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	A	362	ENSP00000360200:E362A;ENSP00000326199:E362A	ENSP00000255202:E362A	E	+	2	0	INADL	62029624	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	6.050000	0.71063	2.173000	0.68751	0.460000	0.39030	GAA	A|0.923;C|0.077	0.077	strong		0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62257036	A	C	62257036	3	2	23	1	0	0	0	0	1	0	0	0	7731	246	9	5	1115	5	INADL	1	62257036	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1753274	62257036	186993585	167	16623										
INADL	10207	hgsc.bcm.edu	37	chr1	62516683	62516683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagtgaggaagatggcagcGtcgaagttggtattaaacaa	14	4	0	2	rs2498982	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:62516683G>C	ENST00000371158.2	+	31	4192	c.4078G>C	c.(4078-4080)Gtc>Ctc	p.V1360L	INADL_ENST00000543708.1_Missense_Mutation_p.V144L|INADL_ENST00000316485.6_Missense_Mutation_p.V1360L|INADL_ENST00000545929.1_Missense_Mutation_p.V33L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1360			V -> L (in dbSNP:rs2498982). {ECO:0000269|PubMed:11374908, ECO:0000269|PubMed:9280290}.		cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.V1360L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGGCAGCGTCGAAGTTGG	0.398													C|||	2859	0.570887	0.767	0.5591	5008	,	,		21408	0.2778		0.5467	False		,,,				2504	0.6411				p.V1360L		Atlas-SNP	.											INADL,NS,carcinoma,0,1	INADL	179	1	1	Substitution - Missense(1)	stomach(1)	c.G4078C						PASS	.	C	LEU/VAL	3120,1286	436.6+/-344.7	1097,926,180	143	138	139		4078	-0.7	0	1	dbSNP_100	139	4775,3825	540.0+/-383.7	1347,2081,872	yes	missense	INADL	NM_176877.2	32	2444,3007,1052	CC,CG,GG		44.4767,29.1875,39.2972	benign	1360/1802	62516683	7895,5111	2203	4300	6503	SO:0001583	missense	10207	exon31			GGCAGCGTCGAAG	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4078G>C	1.37:g.62516683G>C	ENSP00000360200:p.Val1360Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	65	63	0.969231	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	1146	0.5247252747252747	358	0.7276422764227642	211	0.5828729281767956	157	0.2744755244755245	420	0.554089709762533	C	0.012	-1.656752	0.00779	0.708125	0.555233	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708;ENST00000545929	T;T;T;T;T	0.28454	2.8;2.65;3.32;2.33;1.61	4.99	-0.716	0.11212	.	0.998751	0.08103	N	0.997479	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.0;0.001	T	0.40515	-0.9559	9	0.02654	T	1	.	6.6747	0.23087	0.1239:0.244:0.5507:0.0814	rs2498982;rs59954436;rs2498982	33;144;819;1360;1360;1360	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	L	1360;1360;1360;1360;144;144;33	ENSP00000360200:V1360L;ENSP00000326199:V1360L;ENSP00000307496:V144L;ENSP00000445790:V144L;ENSP00000440094:V33L	ENSP00000307496:V144L	V	+	1	0	INADL	62289271	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.401000	0.07232	-0.124000	0.11724	-1.838000	0.00587	GTC	G|0.424;C|0.576	0.576	strong		0.398	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62516683	G	C	62516683	3	2	23	1	0	0	0	0	1	0	0	0	7731	1145	40	4	4196	4	INADL	1	62516683	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	259647	62516683	186733938	168	16624										
KANK4	163782	hgsc.bcm.edu	37	chr1	62703977	62703977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagggacctgccctgctccGcgtgggctctcagaagccca	12	17	1	1	rs34591898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:62703977G>A	ENST00000371153.4	-	10	3338	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	KANK4_ENST00000371150.1_Missense_Mutation_p.A343V|KANK4_ENST00000317477.4_Missense_Mutation_p.A125V|KANK4_ENST00000354381.3_Missense_Mutation_p.A359V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).			cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCCCTGCTCCGCGTGGGCTCT	0.582													G|||	243	0.0485224	0.0038	0.0346	5008	,	,		18776	0.0942		0.0258	False		,,,				2504	0.0951				p.A987V		Atlas-SNP	.											KANK4,bladder,carcinoma,-1,2	KANK4	135	2	0			c.C2960T						PASS	.	G	VAL/ALA	29,4377	35.2+/-66.4	0,29,2174	38	41	40		2960	3.2	0.9	1	dbSNP_126	40	234,8366	94.5+/-156.4	2,230,4068	yes	missense	KANK4	NM_181712.4	64	2,259,6242	AA,AG,GG		2.7209,0.6582,2.0221	benign	987/996	62703977	263,12743	2203	4300	6503	SO:0001583	missense	163782	exon10			TGCTCCGCGTGGG	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2960C>T	1.37:g.62703977G>A	ENSP00000360195:p.Ala987Val	Somatic	350	0	0		WXS	Illumina HiSeq	Phase_I	264	72	0.272727	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	85	0.03891941391941392	3	0.006097560975609756	14	0.03867403314917127	49	0.08566433566433566	19	0.025065963060686015	G	3.047	-0.196172	0.06259	0.006582	0.027209	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.52983	0.79;0.64;0.83;0.83	5.02	3.15	0.36227	Ankyrin repeat-containing domain (2);	0.652243	0.12748	N	0.442434	T	0.01061	0.0035	L	0.28274	0.84	0.09310	N	0.999999	B;B	0.31100	0.308;0.109	B;B	0.24155	0.051;0.013	T	0.03086	-1.1074	10	0.28530	T	0.3	-1.9699	6.2608	0.20899	0.2197:0.0:0.6484:0.1319	rs34591898	359;987	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	V	987;125;359;343	ENSP00000360195:A987V;ENSP00000321161:A125V;ENSP00000346352:A359V;ENSP00000360192:A343V	ENSP00000321161:A125V	A	-	2	0	KANK4	62476565	0.001000	0.12720	0.861000	0.33841	0.749000	0.42624	0.246000	0.18160	0.717000	0.32145	0.305000	0.20034	GCG	G|0.975;A|0.025	0.025	strong		0.582	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		A	62703977	G	A	62703977	3	1	23	1	0	0	0	0	1	0	0	0	7979	1087	38	1	31	1	KANK4	1	62703977	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	187294	62703977	186546644	169	16625										
ALG6	29929	hgsc.bcm.edu	37	chr1	63902524	63902524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtcatcactatggtgcttCtgacgttgatgactgtcaca	9	10	4	3	rs41285372	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:63902524C>G	ENST00000371108.4	+	15	1662	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V	ALG6_ENST00000263440.4_Missense_Mutation_p.L455V|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	453					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TATGGTGCTTCTGACGTTGAT	0.383													C|||	21	0.00419329	0.0008	0.0043	5008	,	,		18422	0.0		0.0159	False		,,,				2504	0.001				p.L453V		Atlas-SNP	.											.	ALG6	33	.	0			c.C1357G						PASS	.	C	VAL/LEU	24,4382	30.8+/-60.4	1,22,2180	227	214	219		1357	3.2	1	1	dbSNP_127	219	152,8448	72.9+/-135.5	1,150,4149	yes	missense	ALG6	NM_013339.3	32	2,172,6329	GG,GC,CC		1.7674,0.5447,1.3532	possibly-damaging	453/508	63902524	176,12830	2203	4300	6503	SO:0001583	missense	29929	exon15			GTGCTTCTGACGT	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1357C>G	1.37:g.63902524C>G	ENSP00000360149:p.Leu453Val	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	180	135	0.75	NM_013339	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	CCDS30735.1	13	0.005952380952380952	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	C	16.45	3.125406	0.56721	0.005447	0.017674	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.83755	-1.76;-1.76	5.06	3.19	0.36642	.	0.079049	0.53938	D	0.000045	D	0.86100	0.5852	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;0.977	D;D	0.87578	0.998;0.919	D	0.85509	0.1196	10	0.45353	T	0.12	-16.66	11.1039	0.48190	0.0:0.8472:0.0:0.1528	rs41285372	200;455	B4DHV8;A2A2G4	.;.	V	453;455;200	ENSP00000360149:L453V;ENSP00000263440:L455V	ENSP00000263440:L455V	L	+	1	2	ALG6	63675112	0.985000	0.35326	0.997000	0.53966	0.749000	0.42624	2.010000	0.40913	0.647000	0.30713	0.484000	0.47621	CTG	C|0.987;G|0.013	0.013	strong		0.383	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		G	63902524	C	G	63902524	3	3	23	1	0	0	0	0	1	0	0	0	522	912	32	4	1411	4	ALG6	1	63902524	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1198547	63902524	185348097	170	16626										
PGM1	5236	hgsc.bcm.edu	37	chr1	64114301	64114301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaagatcattggcaaaagTatggccggaatttcttcacc	8	9	4	1	rs11208257	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:64114301T>C	ENST00000371084.3	+	8	1471	c.1258T>C	c.(1258-1260)Tat>Cat	p.Y420H	PGM1_ENST00000540265.1_Missense_Mutation_p.Y223H|PGM1_ENST00000371083.4_Missense_Mutation_p.Y438H	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	420			Y -> H (in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; dbSNP:rs11208257). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7902567, ECO:0000269|PubMed:7902568, ECO:0000269|Ref.2}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGGCAAAAGTATGGCCGGAA	0.552													T|||	1131	0.225839	0.1967	0.3963	5008	,	,		19029	0.2083		0.2237	False		,,,				2504	0.1646				p.Y438H		Atlas-SNP	.											PGM1_ENST00000371083,NS,carcinoma,0,2	PGM1	75	2	0			c.T1312C						PASS	.	T	HIS/TYR,HIS/TYR,HIS/TYR	760,3646	311.9+/-292.3	69,622,1512	85	81	82		1312,667,1258	4.8	1	1	dbSNP_120	82	1583,7017	295.9+/-302.6	143,1297,2860	yes	missense,missense,missense	PGM1	NM_001172818.1,NM_001172819.1,NM_002633.2	83,83,83	212,1919,4372	CC,CT,TT		18.407,17.2492,18.0148	benign,benign,benign	438/581,223/366,420/563	64114301	2343,10663	2203	4300	6503	SO:0001583	missense	5236	exon8			CAAAAGTATGGCC	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1258T>C	1.37:g.64114301T>C	ENSP00000360125:p.Tyr420His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	44	6	0.136364	NM_001172818	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	CCDS625.1	522	0.23901098901098902	105	0.21341463414634146	130	0.35911602209944754	116	0.20279720279720279	171	0.22559366754617413	T	16.10	3.027395	0.54683	0.172492	0.18407	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.54675	0.56;0.56;0.56	5.9	4.77	0.60923	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.182967	0.49305	D	0.000151	T	0.49372	0.1553	M	0.82132	2.575	0.27607	P	0.9487826	B;B	0.33494	0.414;0.031	B;B	0.41723	0.365;0.108	T	0.58301	-0.7660	9	0.66056	D	0.02	-40.626	13.2602	0.60101	0.0:0.0:0.1326:0.8674	rs11208257;rs11557106;rs58004593;rs11208257	438;420	P36871-2;P36871	.;PGM1_HUMAN	H	396;420;223;438	ENSP00000360125:Y420H;ENSP00000443449:Y223H;ENSP00000360124:Y438H	ENSP00000360124:Y438H	Y	+	1	0	PGM1	63886889	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	6.299000	0.72770	1.045000	0.40225	-0.313000	0.08912	TAT	T|0.809;C|0.191	0.191	strong		0.552	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		C	64114301	T	C	64114301	3	2	23	1	0	0	0	0	1	0	0	0	11797	1638	57	2	1592	2	PGM1	1	64114301	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	211777	64114301	185136320	171	16627										
UBE2U	148581	hgsc.bcm.edu	37	chr1	64672525	64672525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgaaatttataacaattcCgtttcatccaaatggtaaga	6	6	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:64672525C>T	ENST00000371076.3	+	3	471	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	76					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.P76L(1)		large_intestine(3)|lung(2)|skin(1)	6						ATAACAATTCCGTTTCATCCA	0.294																																					p.P76L		Atlas-SNP	.											UBE2U,caecum,carcinoma,0,2	UBE2U	16	2	1	Substitution - Missense(1)	large_intestine(1)	c.C227T						scavenged	.						46	47	47					1																	64672525		2201	4293	6494	SO:0001583	missense	148581	exon3			CAATTCCGTTTCA	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.227C>T	1.37:g.64672525C>T	ENSP00000360116:p.Pro76Leu	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	189	3	0.015873	NM_152489	Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	CCDS627.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151028	0.57151	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.34667	1.35;1.35	5.87	5.87	0.94306	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000009	T	0.31136	0.0787	L	0.33710	1.025	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.09271	-1.0682	10	0.02654	T	1	.	15.7051	0.77573	0.0:1.0:0.0:0.0	.	76	Q5VVX9	UBE2U_HUMAN	L	76	ENSP00000360117:P76L;ENSP00000360116:P76L	ENSP00000360116:P76L	P	+	2	0	UBE2U	64445113	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	3.824000	0.55723	2.777000	0.95525	0.591000	0.81541	CCG	.	.	none		0.294	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		T	64672525	C	T	64672525	3	4	23	1	0	0	0	0	1	0	0	0	16871	652	23	1	237	1	UBE2U	1	64672525	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	558224	64672525	184578096	172	16628										
JAK1	3716	hgsc.bcm.edu	37	chr1	65310489	65310489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcactgagcttgatgaaTgggccacactcactgtcgat	12	10	2	3	rs2230588	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:65310489T>C	ENST00000342505.4	-	16	2447	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	733	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GCTTGATGAATGGGCCACACT	0.562			Mis		ALL								C|||	1866	0.372604	0.6604	0.3199	5008	,	,		18529	0.2996		0.2525	False		,,,				2504	0.2198				p.P733P		Atlas-SNP	.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1	209	.	0			c.A2199G						PASS	.	C		2469,1773		752,965,404	93	110	104		2199	-10	0	1	dbSNP_98	104	1963,6487		242,1479,2504	no	coding-synonymous	JAK1	NM_002227.2		994,2444,2908	CC,CT,TT		23.2308,41.7963,34.9196		733/1155	65310489	4432,8260	2121	4225	6346	SO:0001819	synonymous_variant	3716	exon16			GATGAATGGGCCA	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2199A>G	1.37:g.65310489T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	107	79	0.738318	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																			T|0.670;C|0.330	0.330	strong		0.562	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		C	65310489	T	C	65310489	2	2	23	1	0	0	0	0	0	0	0	1	7937	1451	51	2		2	JAK1	1	65310489	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	637964	65310489	183940132	173	16629										
JAK1	3716	hgsc.bcm.edu	37	chr1	65312342	65312342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacacttactctccacgtcGcggacacagacgccatagag	8	15	1	2	rs17127063	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:65312342G>A	ENST00000342505.4	-	14	2225	c.1977C>T	c.(1975-1977)cgC>cgT	p.R659R	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	659	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTCCACGTCGCGGACACAGA	0.582			Mis		ALL								G|||	233	0.0465256	0.1309	0.0274	5008	,	,		19095	0.0		0.0298	False		,,,				2504	0.0112				p.R659R		Atlas-SNP	.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	JAK1,NS,malignant_melanoma,-1,1	JAK1	209	1	0			c.C1977T						PASS	.	G		461,3823		28,405,1709	83	90	88		1977	-8.6	0.5	1	dbSNP_123	88	231,8311		2,227,4042	no	coding-synonymous	JAK1	NM_002227.2		30,632,5751	AA,AG,GG		2.7043,10.761,5.3953		659/1155	65312342	692,12134	2142	4271	6413	SO:0001819	synonymous_variant	3716	exon14			CACGTCGCGGACA	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1977C>T	1.37:g.65312342G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	82	56	0.682927	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																			G|0.944;A|0.056	0.056	strong		0.582	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		A	65312342	G	A	65312342	2	1	23	1	0	0	0	0	0	0	0	1	7937	1074	38	1		1	JAK1	1	65312342	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1853	65312342	183938279	174	16630										
AK3L1	205	hgsc.bcm.edu	37	chr1	65690461	65690461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgacgtcactggtgaaccGttagtccagcaggaggatga	14	8	1	3	rs4915685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:65690461G>A	ENST00000327299.7	+	4	670	c.465G>A	c.(463-465)ccG>ccA	p.P155P	AK4_ENST00000395334.2_Silent_p.P155P|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000545314.1_Silent_p.P155P|AK4_ENST00000546702.1_Silent_p.P103P	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						CTGGTGAACCGTTAGTCCAGC	0.413													A|||	1853	0.370008	0.3298	0.3314	5008	,	,		20813	0.6726		0.1769	False		,,,				2504	0.3384				p.P155P		Atlas-SNP	.											.	AK4	22	.	0			c.G465A						PASS	.	A	,,	1379,3027	689.8+/-405.2	220,939,1044	134	130	131		465,465,465	-9.7	0	1	dbSNP_111	131	1801,6799	732.9+/-406.9	187,1427,2686	no	coding-synonymous,coding-synonymous,coding-synonymous	AK4	NM_001005353.2,NM_013410.3,NM_203464.2	,,	407,2366,3730	AA,AG,GG		20.9419,31.2982,24.4503	,,	155/224,155/224,155/224	65690461	3180,9826	2203	4300	6503	SO:0001819	synonymous_variant	205	exon5			TGAACCGTTAGTC	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"Adenylate kinases"	363	protein-coding gene	gene with protein product		103030	"adenylate kinase 3", "adenylate kinase 3-like 1"	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.465G>A	1.37:g.65690461G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	149	110	0.738255	NM_203464		Silent	SNP	ENST00000327299.7	37	CCDS629.1																																																																																			G|0.726;A|0.274	0.274	strong		0.413	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		A	65690461	G	A	65690461	2	1	23	1	0	0	0	0	0	0	0	1	442	1132	40	1		1	AK3L1	1	65690461	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	378119	65690461	183560160	175	16631										
C1orf141	400757	hgsc.bcm.edu	37	chr1	67558870	67558874	+	Frame_Shift_Del	DEL	TCATT	TCATT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaattttccagtttgggcacTcatttcatgaataacagctt					rs200104842|rs373816272|rs577736835	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	TCATT	TCATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:67558870_67558874delTCATT	ENST00000371007.2	-	8	1126_1130	c.1017_1021delAATGA	c.(1015-1023)gaaatgagtfs	p.MS340fs	C1orf141_ENST00000371006.1_Frame_Shift_Del_p.MS340fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.MS340fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	340										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GTTTGGGCACTCATTTCATGAATAA	0.361														19	0.00379393	0.0023	0.0072	5008	,	,		16889	0.0		0.0109	False		,,,				2504	0.0				p.340_341del		Atlas-Indel	.											.	C1orf141	58	.	0			c.1018_1022del						PASS	.			10,4244		0,10,2117						-2.1	0			110	69,8177		2,65,4056	no	frameshift	C1orf141	NM_001013674.1		2,75,6173	A1A1,A1R,RR		0.8368,0.2351,0.632				79,12421				SO:0001589	frameshift_variant	400757	exon8			.	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.1017_1021delAATGA	1.37:g.67558870_67558874delTCATT	ENSP00000360046:p.Met340fs	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	125	14	0.112	NM_001276351	Q0P5P5|Q5JVX5	Frame_Shift_Del	DEL	ENST00000371007.2	37	CCDS30745.1																																																																																			TCATT|0.994;-|0.006	0.006	strong		0.361	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		-	67558874	TCATT	-	67558870	7	5	23	1	0	1	0	1	0	0	0	0	2001	1551	54	0	185	0	C1orf141	1	67558870	Frame_Shift_Del	DEL	TCATT	TCGA-GR-7353-01A-11D-2210-10	1868409	67558870	181691751	176	16632										
RPE65	6121	hgsc.bcm.edu	37	chr1	68914353	68914353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagttcctccacagtttcAaacagtttcttgtaaccacc	5	13	2	0	rs62642581		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:68914353A>G	ENST00000262340.5	-	2	101	c.48T>C	c.(46-48)ttT>ttC	p.F16F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	16					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCACAGTTTCAAACAGTTTCT	0.488													A|||	1	0.000199681	0.0	0.0	5008	,	,		14614	0.0		0.001	False		,,,				2504	0.0				p.F16F		Atlas-SNP	.											.	RPE65	87	.	0			c.T48C						PASS	.	A		1,4405	2.1+/-5.4	0,1,2202	116	100	106	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	48	-4.9	0.9	1	dbSNP_129	106	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	RPE65	NM_000329.2		0,6,6497	GG,GA,AA		0.0581,0.0227,0.0461		16/534	68914353	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6121	exon2			AGTTTCAAACAGT	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.48T>C	1.37:g.68914353A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	97	25	0.257732	NM_000329	A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	CCDS643.1																																																																																			A|1.000;G|0.000	0.000	strong		0.488	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		G	68914353	A	G	68914353	2	3	23	1	0	0	0	0	0	0	0	1	13545	127	5	2		2	RPE65	1	68914353	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1355483	68914353	180336268	177	16633										
ANKRD13C	81573	hgsc.bcm.edu	37	chr1	70820008	70820008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgagggcagccgccgcttcCtcatccccgggctccagcag	12	19	1	0	rs61782675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:70820008C>T	ENST00000370944.4	-	1	397	c.84G>A	c.(82-84)gaG>gaA	p.E28E	HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000531950.1_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.E28E|HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	28					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCGCCGCTTCCTCATCCCCGG	0.622													C|||	471	0.0940495	0.0325	0.0908	5008	,	,		16430	0.0645		0.1054	False		,,,				2504	0.1984				p.E28E		Atlas-SNP	.											.	ANKRD13C	36	.	0			c.G84A						PASS	.	C		171,4235		5,161,2037	34	41	39		84	1.8	1	1	dbSNP_129	39	763,7833		28,707,3563	no	coding-synonymous	ANKRD13C	NM_030816.4		33,868,5600	TT,TC,CC		8.8762,3.8811,7.1835		28/542	70820008	934,12068	2203	4298	6501	SO:0001819	synonymous_variant	81573	exon1			CGCTTCCTCATCC		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.84G>A	1.37:g.70820008C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	29	7	0.241379	NM_030816	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	CCDS648.2																																																																																			C|0.928;T|0.072	0.072	strong		0.622	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		T	70820008	C	T	70820008	2	4	23	1	0	0	0	0	0	0	0	1	643	680	24	2		2	ANKRD13C	1	70820008	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1905655	70820008	178430613	178	16634										
HHLA3	11147	hgsc.bcm.edu	37	chr1	70820880	70820880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggccaaacaattaaaagcGgaggcggggaggtgggttgc	17	6	0	0	rs55863806	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:70820880G>A	ENST00000359875.5	+	1	386	c.246G>A	c.(244-246)gcG>gcA	p.A82A	HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000370940.5_Intron|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000531950.1_Silent_p.A82A|ANKRD13C_ENST00000262346.6_5'Flank|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Silent_p.A82A	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	82										large_intestine(3)|lung(1)	4						aattaaaAGCGGAGGCGGGGA	0.453													G|||	467	0.0932508	0.0325	0.0908	5008	,	,		19262	0.0605		0.1044	False		,,,				2504	0.1994				p.A82A		Atlas-SNP	.											.	HHLA3	11	.	0			c.G246A						PASS	.	G	,,	175,4231	111.6+/-149.8	5,165,2033	36	38	37		,246,	-3.4	0	1	dbSNP_129	37	788,7812	183.6+/-231.8	27,734,3539	no	intron,coding-synonymous,intron	HHLA3	NM_001031693.2,NM_001036645.1,NM_001036646.1	,,	32,899,5572	AA,AG,GG		9.1628,3.9719,7.4043	,,	,82/115,	70820880	963,12043	2203	4300	6503	SO:0001819	synonymous_variant	11147	exon1			AAAAGCGGAGGCG	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.246G>A	1.37:g.70820880G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	44	8	0.181818	NM_001036645	D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Silent	SNP	ENST00000359875.5	37	CCDS30753.1																																																																																			G|0.926;A|0.074	0.074	strong		0.453	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		A	70820880	G	A	70820880	2	1	23	1	0	0	0	0	0	0	0	1	7096	1103	39	1		1	HHLA3	1	70820880	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	872	70820880	178429741	179	16635										
CTH	1491	hgsc.bcm.edu	37	chr1	70904800	70904800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagcaccctccaagtggaaGtcacagctagtattccagag	9	11	1	1	rs1021737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:70904800G>T	ENST00000370938.3	+	12	1352	c.1208G>T	c.(1207-1209)aGt>aTt	p.S403I	CTH_ENST00000346806.2_Missense_Mutation_p.S359I|CTH_ENST00000411986.2_Missense_Mutation_p.S371I	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAAGTGGAAGTCACAGCTAG	0.373													G|||	1028	0.205272	0.0628	0.3703	5008	,	,		17108	0.2173		0.2584	False		,,,				2504	0.2137				p.S403I		Atlas-SNP	.											.	CTH	48	.	0			c.G1208T	GRCh37	CM041751	CTH	M	rs1021737	PASS	.	G	ILE/SER,ILE/SER,ILE/SER	476,3930	222.6+/-239.4	32,412,1759	122	126	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1112,1208,1076	0.8	0	1	dbSNP_86	125	2617,5983	423.1+/-354.3	402,1813,2085	yes	missense,missense,missense	CTH	NM_001190463.1,NM_001902.5,NM_153742.4	142,142,142	434,2225,3844	TT,TG,GG		30.4302,10.8034,23.7813	benign,benign,benign	371/374,403/406,359/362	70904800	3093,9913	2203	4300	6503	SO:0001583	missense	1491	exon12			GTGGAAGTCACAG	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1208G>T	1.37:g.70904800G>T	ENSP00000359976:p.Ser403Ile	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	136	92	0.676471	NM_001902	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	496	0.2271062271062271	38	0.07723577235772358	130	0.35911602209944754	125	0.21853146853146854	203	0.2678100263852243	G	3.230	-0.157730	0.06544	0.108034	0.304302	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	T;T;T	0.72505	-0.65;-0.65;-0.66	4.79	0.838	0.18902	.	0.641097	0.14202	N	0.334609	T	0.29321	0.0730	N	0.08118	0	0.80722	P	0.0	B;B;B	0.31859	0.232;0.343;0.232	B;B;B	0.35607	0.102;0.206;0.102	T	0.04467	-1.0949	9	0.45353	T	0.12	-20.7361	6.4403	0.21847	0.3992:0.0:0.6008:0.0	rs1021737;rs1128455;rs3185428;rs17407754;rs17531503;rs52829078;rs61639407;rs1021737	371;359;403	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	I	371;403;359	ENSP00000413407:S371I;ENSP00000359976:S403I;ENSP00000311554:S359I	ENSP00000311554:S359I	S	+	2	0	CTH	70677388	0.000000	0.05858	0.035000	0.18076	0.023000	0.10783	0.035000	0.13797	0.308000	0.22923	-0.156000	0.13503	AGT	G|0.779;T|0.221	0.221	strong		0.373	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		T	70904800	G	T	70904800	3	4	23	1	0	0	0	0	1	0	0	0	4009	1029	36	4	1254	4	CTH	1	70904800	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	83920	70904800	178345821	180	16636										
FPGT	8790	hgsc.bcm.edu	37	chr1	74665493	74665493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcaatatcacgtttttgtGgatcctgctggagccaaaat	9	8	2	0	rs792310	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:74665493G>A	ENST00000609362.1	+	2	265	c.228G>A	c.(226-228)gtG>gtA	p.V76V	FPGT_ENST00000482102.2_Silent_p.V98V|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000370898.3_Silent_p.V89V|FPGT_ENST00000467578.2_Silent_p.V89V|FPGT-TNNI3K_ENST00000370893.1_Silent_p.V76V|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000370894.5_Silent_p.V76V|FPGT_ENST00000534056.1_Silent_p.V76V|FPGT-TNNI3K_ENST00000370895.1_Silent_p.V76V|TNNI3K_ENST00000370891.2_Silent_p.V76V|LRRIQ3_ENST00000370909.2_5'Flank|FPGT-TNNI3K_ENST00000370899.3_Silent_p.V76V|FPGT-TNNI3K_ENST00000557284.2_Silent_p.V89V|FPGT_ENST00000524915.1_3'UTR|LRRIQ3_ENST00000370911.3_5'Flank	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	76					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACGTTTTTGTGGATCCTGCTG	0.403													A|||	2237	0.446685	0.1619	0.389	5008	,	,		16408	0.7391		0.4642	False		,,,				2504	0.5532				p.V76V		Atlas-SNP	.											.	FPGT	77	.	0			c.G228A						PASS	.	A	,,,,	1005,3401	729.6+/-410.1	122,761,1320	141	133	136		228,228,228,228,228	-3.6	1	1	dbSNP_86	136	4157,4443	588.2+/-392.3	1018,2121,1161	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,	1140,2882,2481	AA,AG,GG		48.3372,22.8098,39.6894	,,,,	76/937,76/844,76/341,76/170,76/595	74665493	5162,7844	2203	4300	6503	SO:0001819	synonymous_variant	8790	exon2			TTTTGTGGATCCT	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.228G>A	1.37:g.74665493G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	57	44	0.77193	NM_001199329	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	CCDS663.1																																																																																			G|0.577;A|0.423	0.423	strong		0.403	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	74665493	G	A	74665493	2	1	23	1	0	0	0	0	0	0	0	1	6037	1335	47	2		2	FPGT	1	74665493	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3760693	74665493	174585128	181	16637										
CRYZ	1429	hgsc.bcm.edu	37	chr1	75172001	75172001	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cataagagaagaatcattttTccagtagccccactaccatg	6	11	1	2	rs7527057	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:75172001T>A	ENST00000340866.5	-	9	1056	c.969A>T	c.(967-969)ggA>ggT	p.G323G	CRYZ_ENST00000370872.3_Silent_p.G186G|CRYZ_ENST00000417775.1_Silent_p.G323G|CRYZ_ENST00000370871.3_Silent_p.G289G|CRYZ_ENST00000492102.1_5'UTR	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	323					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	GAATCATTTTTCCAGTAGCCC	0.388													T|||	1084	0.216454	0.0348	0.3674	5008	,	,		16116	0.1091		0.4592	False		,,,				2504	0.2157				p.G323G		Atlas-SNP	.											.	CRYZ	28	.	0			c.A969T						PASS	.	T	,,,	470,3936	220.4+/-237.8	30,410,1763	94	94	94		969,867,558,969	-8.6	0.3	1	dbSNP_116	94	3966,4632	549.0+/-385.5	920,2126,1253	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CRYZ	NM_001130042.1,NM_001130043.1,NM_001134759.1,NM_001889.3	,,,	950,2536,3016	AA,AT,TT		46.127,10.6673,34.1126	,,,	323/330,289/296,186/193,323/330	75172001	4436,8568	2203	4299	6502	SO:0001819	synonymous_variant	1429	exon9			CATTTTTCCAGTA		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.969A>T	1.37:g.75172001T>A		Somatic	298	2	0.00671141		WXS	Illumina HiSeq	Phase_I	174	172	0.988506	NM_001889	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	ENST00000340866.5	37	CCDS665.1																																																																																			T|0.678;A|0.322	0.322	strong		0.388	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			A	75172001	T	A	75172001	2	1	23	1	0	0	0	0	0	0	0	1	3922	1770	62	5		5	CRYZ	1	75172001	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	506508	75172001	174078620	182	16638										
ST6GALNAC5	81849	hgsc.bcm.edu	37	chr1	77510008	77510008	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccgcatgaatgacgccccCacacgcggctatgggcgtga	12	14	0	3	rs35763299	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:77510008C>A	ENST00000477717.1	+	3	616	c.381C>A	c.(379-381)ccC>ccA	p.P127P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	127					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ATGACGCCCCCACACGCGGCT	0.622													C|||	75	0.014976	0.0015	0.0331	5008	,	,		20009	0.0		0.0398	False		,,,				2504	0.0102				p.P127P		Atlas-SNP	.											.	ST6GALNAC5	59	.	0			c.C381A						PASS	.	C		17,4389	22.3+/-47.3	1,15,2187	65	59	61		381	1.6	1	1	dbSNP_126	61	232,8368	94.0+/-155.9	5,222,4073	no	coding-synonymous	ST6GALNAC5	NM_030965.1		6,237,6260	AA,AC,CC		2.6977,0.3858,1.9145		127/337	77510008	249,12757	2203	4300	6503	SO:0001819	synonymous_variant	81849	exon3			CGCCCCCACACGC		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.381C>A	1.37:g.77510008C>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	65	19	0.292308	NM_030965	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																			T|0.009;C|0.980;A|0.010	0.010	strong		0.622	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		A	77510008	C	A	77510008	2	1	23	1	0	0	0	0	0	0	0	1	15226	581	21	4		4	ST6GALNAC5	1	77510008	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2338007	77510008	171740613	183	16639										
USP33	23032	hgsc.bcm.edu	37	chr1	78201745	78201745	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacaggattaatttacctctGgccctaagttcatcttcttc	5	12	4	0	rs2296227	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:78201745G>T	ENST00000370793.1	-	7	889	c.543C>A	c.(541-543)gcC>gcA	p.A181A	USP33_ENST00000357428.1_Silent_p.A181A|USP33_ENST00000370794.3_Silent_p.A150A|USP33_ENST00000370792.3_Silent_p.A181A	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	181					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTACCTCTGGCCCTAAGTT	0.358													T|||	2451	0.489417	0.7451	0.2608	5008	,	,		15784	0.4077		0.332	False		,,,				2504	0.5521				p.A181A	Melanoma(152;72 1870 11110 26780 42647)	Atlas-SNP	.											.	USP33	87	.	0			c.C543A						PASS	.	T	,,	2980,1426	464.3+/-353.8	1026,928,249	126	121	123		543,450,543	1.3	1	1	dbSNP_100	123	2594,6006	688.8+/-404.3	428,1738,2134	no	coding-synonymous,coding-synonymous,coding-synonymous	USP33	NM_015017.3,NM_201624.1,NM_201626.1	,,	1454,2666,2383	TT,TG,GG		30.1628,32.365,42.8571	,,	181/943,150/912,181/829	78201745	5574,7432	2203	4300	6503	SO:0001819	synonymous_variant	23032	exon7			ACCTCTGGCCCTA	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.543C>A	1.37:g.78201745G>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	109	107	0.981651	NM_201626	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1																																																																																			G|0.550;T|0.450	0.450	strong		0.358	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		T	78201745	G	T	78201745	2	4	23	1	0	0	0	0	0	0	0	1	17061	1335	47	4		4	USP33	1	78201745	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	691737	78201745	171048876	184	16640										
ELTD1	64123	hgsc.bcm.edu	37	chr1	79392756	79392756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaatactcttataatataCaaatgcaactgcaacattgc	3	10	1	0	rs12754818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:79392756C>A	ENST00000370742.3	-	8	961	c.898G>T	c.(898-900)Gta>Tta	p.V300L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	300			V -> L (in dbSNP:rs12754818). {ECO:0000269|PubMed:11050079, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTATAATATACAAATGCAACT	0.279													A|||	3108	0.620607	0.4939	0.6844	5008	,	,		16163	0.7044		0.6183	False		,,,				2504	0.6626				p.V300L		Atlas-SNP	.											.	ELTD1	143	.	0			c.G898T						PASS	.	A	LEU/VAL	1884,1704		511,862,421	55	51	52		898	3.7	1	1	dbSNP_121	52	5209,2935		1644,1921,507	yes	missense	ELTD1	NM_022159.3	32	2155,2783,928	AA,AC,CC		36.0388,47.4916,39.5414	benign	300/691	79392756	7093,4639	1794	4072	5866	SO:0001583	missense	64123	exon8			AATATACAAATGC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.898G>T	1.37:g.79392756C>A	ENSP00000359778:p.Val300Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	63	10	0.15873	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	1361	0.6231684981684982	236	0.4796747967479675	243	0.6712707182320442	414	0.7237762237762237	468	0.6174142480211082	a	2.652	-0.281777	0.05642	0.525084	0.639612	ENSG00000162618	ENST00000370742	T	0.11930	2.73	6.02	3.74	0.42951	Domain of unknown function DUF3497 (1);	0.066165	0.64402	N	0.000012	T	0.00815	0.0027	N	0.00483	-1.445	0.53005	P	3.2999999999949736E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	8	.	.	.	.	5.2641	0.15589	0.5899:0.1427:0.2674:0.0	rs12754818;rs17845775;rs17858735;rs52801657;rs61009919;rs12754818	300	Q9HBW9	ELTD1_HUMAN	L	300	ENSP00000359778:V300L	.	V	-	1	0	ELTD1	79165344	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	1.538000	0.36094	0.187000	0.20147	-0.406000	0.06334	GTA	C|0.374;A|0.625	0.625	strong		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		A	79392756	C	A	79392756	3	1	23	1	0	0	0	0	1	0	0	0	5084	478	17	4	1206	4	ELTD1	1	79392756	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1191011	79392756	169857865	185	16641										
C1orf52	148423	hgsc.bcm.edu	37	chr1	85724328	85724328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatgtcaagctctggaggCggaggcttcttctcagtggt	14	10	4	0	rs4949926	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:85724328C>T	ENST00000471115.1	-	2	362	c.354G>A	c.(352-354)ccG>ccA	p.P118P	C1orf52_ENST00000344356.5_Silent_p.P118P|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	118							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCTCTGGAGGCGGAGGCTTCT	0.428													C|||	1126	0.22484	0.1271	0.3156	5008	,	,		13049	0.2956		0.2078	False		,,,				2504	0.2372				p.P118P		Atlas-SNP	.											.	C1orf52	16	.	0			c.G354A						PASS	.	C		598,3808	261.0+/-264.0	36,526,1641	141	133	135		354	-3.8	0.2	1	dbSNP_111	135	1747,6853	319.5+/-314.2	169,1409,2722	no	coding-synonymous	C1orf52	NM_198077.3		205,1935,4363	TT,TC,CC		20.314,13.5724,18.0301		118/183	85724328	2345,10661	2203	4300	6503	SO:0001819	synonymous_variant	148423	exon2			TGGAGGCGGAGGC	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.354G>A	1.37:g.85724328C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	244	241	0.987705	NM_198077	B3KX89|Q8TDK5|Q8TDK6	Silent	SNP	ENST00000471115.1	37	CCDS703.1																																																																																			C|0.810;T|0.190	0.190	strong		0.428	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		T	85724328	C	T	85724328	2	4	23	1	0	0	0	0	0	0	0	1	2044	755	27	1		1	C1orf52	1	85724328	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6331572	85724328	163526293	186	16642										
CLCA2	9635	hgsc.bcm.edu	37	chr1	86909493	86909493	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagtacaggtgaaaatgtCaaacctcaccatcaattgaa	7	8	3	2	rs2390059	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:86909493C>T	ENST00000370565.4	+	10	1674	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	504					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GTGAAAATGTCAAACCTCACC	0.383													T|||	561	0.112021	0.171	0.1081	5008	,	,		17482	0.0585		0.0934	False		,,,				2504	0.1094				p.V504V	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Atlas-SNP	.											.	CLCA2	102	.	0			c.C1512T						PASS	.	T		765,3641	754.9+/-412.5	69,627,1507	110	99	102		1512	-7.1	0	1	dbSNP_100	102	709,7891	787.1+/-407.6	30,649,3621	no	coding-synonymous	CLCA2	NM_006536.5		99,1276,5128	TT,TC,CC		8.2442,17.3627,11.3332		504/944	86909493	1474,11532	2203	4300	6503	SO:0001819	synonymous_variant	9635	exon10			AAATGTCAAACCT		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1512C>T	1.37:g.86909493C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	62	14	0.225806	NM_006536	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	CCDS708.1																																																																																			T|0.113;G|0.000;C|0.887	0.113	strong		0.383	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		T	86909493	C	T	86909493	2	4	23	1	0	0	0	0	0	0	0	1	3458	813	29	2		2	CLCA2	1	86909493	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1185165	86909493	162341128	187	16643										
CLCA2	9635	hgsc.bcm.edu	37	chr1	86909582	86909582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttacgtggcaggccagtgGtcctcctgagattatattat	11	8	0	1	rs1413426	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:86909582G>A	ENST00000370565.4	+	10	1763	c.1601G>A	c.(1600-1602)gGt>gAt	p.G534D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	534			G -> D (in dbSNP:rs1413426).		cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGGCCAGTGGTCCTCCTGAG	0.393													G|||	513	0.102436	0.1362	0.1052	5008	,	,		16996	0.0585		0.0934	False		,,,				2504	0.1094				p.G534D	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Atlas-SNP	.											.	CLCA2	102	.	0			c.G1601A						PASS	.	G	ASP/GLY	588,3818	258.0+/-262.2	36,516,1651	146	134	138		1601	3.2	0	1	dbSNP_88	138	706,7894	174.2+/-224.5	30,646,3624	yes	missense	CLCA2	NM_006536.5	94	66,1162,5275	AA,AG,GG		8.2093,13.3454,9.9493	benign	534/944	86909582	1294,11712	2203	4300	6503	SO:0001583	missense	9635	exon10			CCAGTGGTCCTCC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1601G>A	1.37:g.86909582G>A	ENSP00000359596:p.Gly534Asp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	67	13	0.19403	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	192	0.08791208791208792	57	0.11585365853658537	41	0.1132596685082873	27	0.0472027972027972	67	0.08839050131926121	G	0.037	-1.303422	0.01353	0.133454	0.082093	ENSG00000137975	ENST00000370565	T	0.34667	1.35	5.13	3.25	0.37280	Domain of unknown function DUF1973 (1);	0.835260	0.10867	N	0.625379	T	0.09642	0.0237	L	0.45137	1.4	0.80722	P	0.0	B	0.06786	0.001	B	0.12156	0.007	T	0.27773	-1.0064	9	0.13853	T	0.58	-4.0188	3.444	0.07474	0.206:0.0:0.4484:0.3456	rs1413426;rs2390058;rs17099757;rs52811376;rs1413426	534	Q9UQC9	CLCA2_HUMAN	D	534	ENSP00000359596:G534D	ENSP00000359596:G534D	G	+	2	0	CLCA2	86682170	0.000000	0.05858	0.016000	0.15963	0.077000	0.17291	0.705000	0.25675	0.746000	0.32786	0.650000	0.86243	GGT	G|0.904;A|0.096	0.096	strong		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		A	86909582	G	A	86909582	3	1	23	1	0	0	0	0	1	0	0	0	3458	1261	44	2	1639	2	CLCA2	1	86909582	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	89	86909582	162341039	188	16644										
GBP1	2633	hgsc.bcm.edu	37	chr1	89523911	89523911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaaagtttcatctttttgaCtggtacctagaaaaacattt	5	6	2	2	rs75161612	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:89523911C>T	ENST00000370473.4	-	6	857	c.638G>A	c.(637-639)aGt>aAt	p.S213N	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	213	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ATCTTTTTGACTGGTACCTAG	0.368													.|||	91	0.0181709	0.0053	0.0159	5008	,	,		16962	0.0		0.0298	False		,,,				2504	0.044				p.S213N		Atlas-SNP	.											.	GBP1	68	.	0			c.G638A						PASS	.	C	ASN/SER	30,4374	31.7+/-61.6	0,30,2172	97	109	105		638	-2.4	0	1	dbSNP_131	105	220,8380	88.4+/-150.7	1,218,4081	yes	missense	GBP1	NM_002053.2	46	1,248,6253	TT,TC,CC		2.5581,0.6812,1.9225	benign	213/593	89523911	250,12754	2202	4300	6502	SO:0001583	missense	2633	exon6			TTTTGACTGGTAC	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.638G>A	1.37:g.89523911C>T	ENSP00000359504:p.Ser213Asn	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	27	27	1	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	27	0.012362637362637362	4	0.008130081300813009	6	0.016574585635359115	0	0.0	17	0.022427440633245383	C	0.084	-1.178538	0.01633	0.006812	0.025581	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.73789	-0.78	4.48	-2.37	0.06643	Guanylate-binding protein, N-terminal (1);	1.837820	0.02201	N	0.062280	T	0.24928	0.0605	N	0.11845	0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15925	-1.0420	10	0.06757	T	0.87	.	5.8264	0.18556	0.0:0.432:0.1405:0.4275	.	213	P32455	GBP1_HUMAN	N	213;176	ENSP00000359504:S213N	ENSP00000359504:S213N	S	-	2	0	GBP1	89296499	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.686000	0.00834	-0.598000	0.05806	0.313000	0.20887	AGT	C|0.981;T|0.019	0.019	strong		0.368	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		T	89523911	C	T	89523911	3	4	23	1	0	0	0	0	1	0	0	0	6273	565	20	2	1164	2	GBP1	1	89523911	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2614329	89523911	159726710	189	16645										
GBP7	388646	hgsc.bcm.edu	37	chr1	89599013	89599013	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccctctccatcttcttcttGagttgagctatgttttcctg	6	12	4	2	rs115671591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:89599013G>T	ENST00000294671.2	-	10	1728	c.1590C>A	c.(1588-1590)ctC>ctA	p.L530L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	530						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTTCTTCTTGAGTTGAGCTA	0.438													G|||	103	0.0205671	0.0068	0.0159	5008	,	,		22297	0.0119		0.0278	False		,,,				2504	0.044				p.L530L		Atlas-SNP	.											.	GBP7	57	.	0			c.C1590A						PASS	.	G		38,4366	41.6+/-74.8	0,38,2164	290	265	273		1590	-6.5	0	1	dbSNP_132	273	216,8384	90.9+/-153.0	1,214,4085	no	coding-synonymous	GBP7	NM_207398.2		1,252,6249	TT,TG,GG		2.5116,0.8629,1.9532		530/639	89599013	254,12750	2202	4300	6502	SO:0001819	synonymous_variant	388646	exon10			CTTCTTGAGTTGA	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1590C>A	1.37:g.89599013G>T		Somatic	473	0	0		WXS	Illumina HiSeq	Phase_I	274	272	0.992701	NM_207398		Silent	SNP	ENST00000294671.2	37	CCDS720.1																																																																																			G|0.979;T|0.021	0.021	strong		0.438	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		T	89599013	G	T	89599013	2	4	23	1	0	0	0	0	0	0	0	1	6279	1277	45	4		4	GBP7	1	89599013	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	75102	89599013	159651608	190	16646										
GBP7	388646	hgsc.bcm.edu	37	chr1	89613280	89613280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctgggcactagtgtataGtcctgttcaatcttcttttt	7	8	4	0	rs115454072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:89613280G>A	ENST00000294671.2	-	8	1473	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	445						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTAGTGTATAGTCCTGTTCAA	0.443													G|||	115	0.0229633	0.0166	0.0159	5008	,	,		18197	0.0119		0.0278	False		,,,				2504	0.0429				p.D445D		Atlas-SNP	.											.	GBP7	57	.	0			c.C1335T						PASS	.	G		71,4335	64.1+/-101.4	0,71,2132	171	171	171		1335	-0.8	0	1	dbSNP_132	171	215,8385	90.6+/-152.8	1,213,4086	no	coding-synonymous	GBP7	NM_207398.2		1,284,6218	AA,AG,GG		2.5,1.6114,2.199		445/639	89613280	286,12720	2203	4300	6503	SO:0001819	synonymous_variant	388646	exon8			TGTATAGTCCTGT	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1335C>T	1.37:g.89613280G>A		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	159	158	0.993711	NM_207398		Silent	SNP	ENST00000294671.2	37	CCDS720.1																																																																																			G|0.976;A|0.024	0.024	strong		0.443	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		A	89613280	G	A	89613280	2	1	23	1	0	0	0	0	0	0	0	1	6279	1020	36	2		2	GBP7	1	89613280	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14267	89613280	159637341	191	16647										
GBP4	115361	hgsc.bcm.edu	37	chr1	89655787	89655787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgaagactgcaatggcTtccctctcacaggctgcatg	9	13	1	2	rs41305862	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:89655787T>C	ENST00000355754.6	-	7	1228	c.1131A>G	c.(1129-1131)gaA>gaG	p.E377E		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	377						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGCAATGGCTTCCCTCTCAC	0.532													T|||	109	0.0217652	0.0113	0.0159	5008	,	,		18719	0.0119		0.0278	False		,,,				2504	0.044				p.E377E		Atlas-SNP	.											.	GBP4	89	.	0			c.A1131G						PASS	.	T		52,4354	52.3+/-87.9	0,52,2151	103	97	99		1131	0.2	1	1	dbSNP_127	99	216,8384	90.9+/-153.0	1,214,4085	no	coding-synonymous	GBP4	NM_052941.4		1,266,6236	CC,CT,TT		2.5116,1.1802,2.0606		377/641	89655787	268,12738	2203	4300	6503	SO:0001819	synonymous_variant	115361	exon7			AATGGCTTCCCTC	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1131A>G	1.37:g.89655787T>C		Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	166	158	0.951807	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	CCDS721.1																																																																																			T|0.977;C|0.023	0.023	strong		0.532	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		C	89655787	T	C	89655787	2	2	23	1	0	0	0	0	0	0	0	1	6276	1606	56	3		3	GBP4	1	89655787	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	42507	89655787	159594834	192	16648										
GBP4	115361	hgsc.bcm.edu	37	chr1	89655994	89655994	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acataagtcaccaccagagtCcccagccctgaatcacatat	5	15	2	2	rs1410871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:89655994C>T	ENST00000355754.6	-	7	1021	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	308	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCACCAGAGTCCCCAGCCCTG	0.413													C|||	537	0.107228	0.3207	0.0403	5008	,	,		18431	0.0119		0.0298	False		,,,				2504	0.044				p.G308G		Atlas-SNP	.											.	GBP4	89	.	0			c.G924A						PASS	.	C		1199,3207	383.7+/-325.0	172,855,1176	56	58	57		924	-4.2	0	1	dbSNP_88	57	229,8371	89.4+/-151.6	1,227,4072	no	coding-synonymous	GBP4	NM_052941.4		173,1082,5248	TT,TC,CC		2.6628,27.2129,10.9795		308/641	89655994	1428,11578	2203	4300	6503	SO:0001819	synonymous_variant	115361	exon7			CAGAGTCCCCAGC	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.924G>A	1.37:g.89655994C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	86	84	0.976744	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	CCDS721.1																																																																																			C|0.898;T|0.102	0.102	strong		0.413	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		T	89655994	C	T	89655994	2	4	23	1	0	0	0	0	0	0	0	1	6276	842	30	2		2	GBP4	1	89655994	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	207	89655994	159594627	193	16649										
LRRC8B	23507	hgsc.bcm.edu	37	chr1	90048248	90048248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaaaatgcttagcagatgcCcagtcatcttatcacatctt	5	11	4	1	rs12130207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:90048248C>T	ENST00000330947.2	+	5	399	c.39C>T	c.(37-39)gcC>gcT	p.A13A	LRRC8B_ENST00000358200.4_Silent_p.A13A|LRRC8B_ENST00000439853.1_Silent_p.A13A|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	13					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAGCAGATGCCCAGTCATCTT	0.463													C|||	738	0.147364	0.1573	0.1873	5008	,	,		21834	0.0407		0.2177	False		,,,				2504	0.1431				p.A13A		Atlas-SNP	.											LRRC8B,NS,neuroblastoma,+2,1	LRRC8B	49	1	0			c.C39T						PASS	.	C	,	692,3714	289.2+/-280.3	58,576,1569	146	137	140		39,39	3.5	1	1	dbSNP_120	140	1808,6792	325.9+/-317.1	195,1418,2687	no	coding-synonymous,coding-synonymous	LRRC8B	NM_001134476.1,NM_015350.2	,	253,1994,4256	TT,TC,CC		21.0233,15.7059,19.2219	,	13/804,13/804	90048248	2500,10506	2203	4300	6503	SO:0001819	synonymous_variant	23507	exon5			AGATGCCCAGTCA	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.39C>T	1.37:g.90048248C>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	130	127	0.976923	NM_015350	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																			C|0.814;T|0.186	0.186	strong		0.463	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		T	90048248	C	T	90048248	2	4	23	1	0	0	0	0	0	0	0	1	9022	610	22	2		2	LRRC8B	1	90048248	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	392254	90048248	159202373	194	16650										
TGFBR3	7049	hgsc.bcm.edu	37	chr1	92185657	92185657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaatatctgggaaaggaaaCggaaggcctccattttggcc	12	8	1	0	rs1805112	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:92185657C>T	ENST00000525962.1	-	8	1267	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	TGFBR3_ENST00000212355.4_Silent_p.P402P|TGFBR3_ENST00000370399.2_Silent_p.P401P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	402					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGAAAGGAAACGGAAGGCCTC	0.577													G|||	2034	0.40615	0.2814	0.2824	5008	,	,		18343	0.5308		0.4592	False		,,,				2504	0.4796				p.P402P		Atlas-SNP	.											TGFBR3,bladder,carcinoma,-1,1	TGFBR3	103	1	0			c.G1206A						PASS	.	G	,,	1398,3008		213,972,1018	61	63	63		1203,1203,1206	0.2	1	1	dbSNP_89	63	3566,5034		754,2058,1488	no	coding-synonymous,coding-synonymous,coding-synonymous	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	,,	967,3030,2506	TT,TC,CC		41.4651,31.7295,38.167	,,	401/851,401/851,402/852	92185657	4964,8042	2203	4300	6503	SO:0001819	synonymous_variant	7049	exon9			AGGAAACGGAAGG	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1206G>A	1.37:g.92185657C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	59	40	0.677966	NM_003243	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																			C|0.620;T|0.380	0.380	strong		0.577	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92185657	C	T	92185657	2	4	23	1	0	0	0	0	0	0	0	1	15820	523	19	1		1	TGFBR3	1	92185657	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2137409	92185657	157064964	195	16651										
GLMN	11146	hgsc.bcm.edu	37	chr1	92754667	92754667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attccaaagggtagacaatgCtaatccaattgaatatgcct	7	8	0	2	rs61754623	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:92754667C>T	ENST00000370360.3	-	6	517	c.436G>A	c.(436-438)Gca>Aca	p.A146T	GLMN_ENST00000534881.1_Missense_Mutation_p.A146T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	146					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GTAGACAATGCTAATCCAATT	0.383									Multiple Glomus Tumors (of the Skin), Familial				C|||	10	0.00199681	0.0008	0.0058	5008	,	,		21197	0.0		0.005	False		,,,				2504	0.0				p.A146T		Atlas-SNP	.											.	GLMN	37	.	0			c.G436A						PASS	.	C	THR/ALA	11,4395	17.9+/-39.9	0,11,2192	105	97	99		436	3.8	1	1	dbSNP_129	99	60,8540	37.4+/-92.8	0,60,4240	yes	missense	GLMN	NM_053274.2	58	0,71,6432	TT,TC,CC		0.6977,0.2497,0.5459	possibly-damaging	146/595	92754667	71,12935	2203	4300	6503	SO:0001583	missense	11146	exon6	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	ACAATGCTAATCC	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.436G>A	1.37:g.92754667C>T	ENSP00000359385:p.Ala146Thr	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	58	49	0.844828	NM_053274	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	CCDS738.1	6	0.0027472527472527475	0	0.0	4	0.011049723756906077	0	0.0	2	0.002638522427440633	C	15.94	2.981941	0.53827	0.002497	0.006977	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.52754	0.65;0.65	5.69	3.8	0.43715	.	0.217361	0.48767	N	0.000163	T	0.17662	0.0424	L	0.39633	1.23	0.40000	D	0.975158	B;B	0.24426	0.064;0.103	B;B	0.22152	0.038;0.038	T	0.06180	-1.0841	10	0.25106	T	0.35	-9.4675	6.2615	0.20903	0.2337:0.6103:0.0:0.156	rs61754623	146;146	B4DJ85;Q92990	.;GLMN_HUMAN	T	146	ENSP00000359385:A146T;ENSP00000440156:A146T	ENSP00000359385:A146T	A	-	1	0	GLMN	92527255	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.288000	0.33296	1.399000	0.46721	0.585000	0.79938	GCA	C|0.996;T|0.004	0.004	strong		0.383	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		T	92754667	C	T	92754667	3	4	23	1	0	0	0	0	1	0	0	0	6448	797	28	2	1404	2	GLMN	1	92754667	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	569010	92754667	156495954	196	16652										
EVI5	7813	hgsc.bcm.edu	37	chr1	93073228	93073228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagatactgcactttctcCtgtaggctaatcacctcttg	7	11	3	1	rs11808092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:93073228C>A	ENST00000370331.1	-	15	1845	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	EVI5_ENST00000543509.1_Missense_Mutation_p.Q623H|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.Q612H	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	612	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.		Q -> H (in dbSNP:rs11808092).		cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCACTTTCTCCTGTAGGCTAA	0.368													C|||	618	0.123403	0.0696	0.1873	5008	,	,		15421	0.0159		0.2744	False		,,,				2504	0.1063				p.Q612H		Atlas-SNP	.											.	EVI5	94	.	0			c.G1836T						PASS	.	C	HIS/GLN	467,3937	219.1+/-236.9	21,425,1756	175	155	162		1836	4.7	1	1	dbSNP_120	162	2206,6392	374.7+/-337.5	283,1640,2376	yes	missense	EVI5	NM_005665.4	24	304,2065,4132	AA,AC,CC		25.6571,10.604,20.5584	benign	612/811	93073228	2673,10329	2202	4299	6501	SO:0001583	missense	7813	exon15			TTTCTCCTGTAGG	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1836G>T	1.37:g.93073228C>A	ENSP00000359356:p.Gln612His	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	116	116	1	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	322	0.14743589743589744	28	0.056910569105691054	80	0.22099447513812154	13	0.022727272727272728	201	0.26517150395778366	C	16.26	3.071826	0.55646	0.10604	0.256571	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.33654	1.4;1.4;1.4	5.59	4.67	0.58626	.	0.066222	0.64402	N	0.000007	T	0.31420	0.0796	M	0.74258	2.255	0.20873	P	0.999833227	P;B	0.37276	0.589;0.003	B;B	0.44044	0.439;0.008	T	0.34129	-0.9841	9	0.56958	D	0.05	-3.3187	10.7489	0.46198	0.0:0.7959:0.1332:0.0709	rs11808092;rs17380490;rs52824058;rs56783586;rs11808092	623;612	F5H4R0;O60447	.;EVI5_HUMAN	H	612;612;623	ENSP00000359356:Q612H;ENSP00000440826:Q612H;ENSP00000445019:Q623H	ENSP00000359356:Q612H	Q	-	3	2	EVI5	92845816	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.689000	0.25437	1.342000	0.45619	0.655000	0.94253	CAG	C|0.826;A|0.174	0.174	strong		0.368	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		A	93073228	C	A	93073228	3	1	23	1	0	0	0	0	1	0	0	0	5289	680	24	4	612	4	EVI5	1	93073228	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	318561	93073228	156177393	197	16653										
DNTTIP2	30836	hgsc.bcm.edu	37	chr1	94342564	94342564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcattaatttctttcccCtcatctgttattccattggc	3	12	4	0	rs3747965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94342564C>A	ENST00000436063.2	-	2	984	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	309			E -> D (in dbSNP:rs3747965). {ECO:0000269|PubMed:12786946, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4, ECO:0000269|Ref.8}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTTTCCCCTCATCTGTTA	0.378													C|||	1727	0.344848	0.0817	0.33	5008	,	,		19818	0.5565		0.325	False		,,,				2504	0.5133				p.E309D		Atlas-SNP	.											.	DNTTIP2	59	.	0			c.G927T						PASS	.	C	ASP/GLU	505,3149		34,437,1356	65	54	58		927	0.4	0	1	dbSNP_107	58	2741,5429		446,1849,1790	yes	missense	DNTTIP2	NM_014597.4	45	480,2286,3146	AA,AC,CC		33.5496,13.8205,27.4526	possibly-damaging	309/757	94342564	3246,8578	1827	4085	5912	SO:0001583	missense	30836	exon2			TTTCCCCTCATCT	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.927G>T	1.37:g.94342564C>A	ENSP00000411010:p.Glu309Asp	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	84	81	0.964286	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	741	0.3392857142857143	44	0.08943089430894309	124	0.3425414364640884	325	0.5681818181818182	248	0.32717678100263853	C	7.180	0.589308	0.13812	0.138205	0.335496	ENSG00000067334	ENST00000436063	T	0.22134	1.97	4.83	0.373	0.16178	.	1.095520	0.06942	N	0.813102	T	0.07324	0.0185	L	0.56769	1.78	0.80722	P	0.0	B	0.12630	0.006	B	0.10450	0.005	T	0.35943	-0.9768	9	0.38643	T	0.18	.	4.5422	0.12064	0.2991:0.529:0.0:0.1719	rs3747965;rs17846411;rs17859454;rs52797280;rs59636660;rs3747965	309	Q5QJE6	TDIF2_HUMAN	D	309	ENSP00000411010:E309D	ENSP00000352137:E309D	E	-	3	2	DNTTIP2	94115152	0.000000	0.05858	0.001000	0.08648	0.292000	0.27327	-1.753000	0.01818	-0.083000	0.12618	-0.345000	0.07892	GAG	C|0.661;A|0.339	0.339	strong		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		A	94342564	C	A	94342564	3	1	23	1	0	0	0	0	1	0	0	0	4682	680	24	4	1367	4	DNTTIP2	1	94342564	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1269336	94342564	154908057	198	16654										
DNTTIP2	30836	hgsc.bcm.edu	37	chr1	94343023	94343023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcctgtagttttttctgtAggaagcacaattctagaaat	8	7	2	1	rs2391322	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94343023A>G	ENST00000436063.2	-	2	525	c.468T>C	c.(466-468)ccT>ccC	p.P156P	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTTTCTGTAGGAAGCACAA	0.393													G|||	2188	0.436901	0.3782	0.3718	5008	,	,		20363	0.5585		0.3499	False		,,,				2504	0.5266				p.P156P		Atlas-SNP	.											.	DNTTIP2	59	.	0			c.T468C						PASS	.	G		1395,2271		250,895,688	112	104	106		468	-0.4	0	1	dbSNP_100	106	2925,5263		505,1915,1674	no	coding-synonymous	DNTTIP2	NM_014597.4		755,2810,2362	GG,GA,AA		35.723,38.0524,36.4434		156/757	94343023	4320,7534	1833	4094	5927	SO:0001819	synonymous_variant	30836	exon2			TTCTGTAGGAAGC	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.468T>C	1.37:g.94343023A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																			A|0.587;G|0.413	0.413	strong		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		G	94343023	A	G	94343023	2	3	23	1	0	0	0	0	0	0	0	1	4682	407	15	3		3	DNTTIP2	1	94343023	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	459	94343023	154907598	199	16655										
ABCA4	24	hgsc.bcm.edu	37	chr1	94476388	94476388	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagtggcgctggaccagCagggtcaggaggaagtacac	16	8	1	1	rs1801574	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94476388C>G	ENST00000370225.3	-	40	5768	c.5682G>C	c.(5680-5682)ctG>ctC	p.L1894L	ABCA4_ENST00000535881.1_Silent_p.L13L|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Silent_p.L164L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1894					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.L1894L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGGACCAGCAGGGTCAGGA	0.582													G|||	1005	0.200679	0.2738	0.2075	5008	,	,		17831	0.12		0.2495	False		,,,				2504	0.1299				p.L1894L		Atlas-SNP	.											ABCA4,NS,carcinoma,0,1	ABCA4	275	1	1	Substitution - coding silent(1)	stomach(1)	c.G5682C						PASS	.	G		1077,3329	722.2+/-409.3	146,785,1272	193	146	162	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5682	-1.1	1	1	dbSNP_89	162	2165,6435	712.8+/-405.9	257,1651,2392	no	coding-synonymous	ABCA4	NM_000350.2		403,2436,3664	GG,GC,CC		25.1744,24.4439,24.927		1894/2274	94476388	3242,9764	2203	4300	6503	SO:0001819	synonymous_variant	24	exon40			GACCAGCAGGGTC	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5682G>C	1.37:g.94476388C>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	71	14	0.197183	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																			C|0.758;G|0.242	0.242	strong		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		G	94476388	C	G	94476388	2	3	23	1	0	0	0	0	0	0	0	1	34	697	25	4		4	ABCA4	1	94476388	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133365	94476388	154774233	200	16656										
ABCA4	24	hgsc.bcm.edu	37	chr1	94476467	94476467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggtcccagtggaacggaTttgcagagtgctcctcacct	11	12	2	1	rs1801466	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94476467T>A	ENST00000370225.3	-	40	5689	c.5603A>T	c.(5602-5604)aAt>aTt	p.N1868I	ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.N138I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1868			N -> I (slightly reduced retinal- stimulated ATP hydrolysis; dbSNP:rs1801466). {ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11384574, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:11594993}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGAACGGATTTGCAGAGTG	0.592													T|||	104	0.0207668	0.0045	0.0274	5008	,	,		19038	0.0		0.0646	False		,,,				2504	0.0143				p.N1868I		Atlas-SNP	.											.	ABCA4	275	.	0			c.A5603T	GRCh37	CM015091	ABCA4	M	rs1801466	PASS	.	T	ILE/ASN	49,4357	50.9+/-86.3	0,49,2154	171	129	143	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5603	4.8	0.1	1	dbSNP_89	143	572,8028	153.1+/-207.6	16,540,3744	yes	missense	ABCA4	NM_000350.2	149	16,589,5898	AA,AT,TT		6.6512,1.1121,4.7747	possibly-damaging	1868/2274	94476467	621,12385	2203	4300	6503	SO:0001583	missense	24	exon40			AACGGATTTGCAG	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5603A>T	1.37:g.94476467T>A	ENSP00000359245:p.Asn1868Ile	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	82	12	0.146341	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	63	0.028846153846153848	2	0.0040650406504065045	11	0.03038674033149171	0	0.0	50	0.06596306068601583	T	12.15	1.852683	0.32699	0.011121	0.066512	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513	D;D	0.91631	-2.88;-2.37	4.76	4.76	0.60689	.	0.321128	0.36665	N	0.002461	D	0.91389	0.7283	M	0.81497	2.545	0.80722	D	1	P;P	0.37525	0.598;0.459	B;B	0.42593	0.392;0.175	D	0.93225	0.6612	10	0.87932	D	0	.	14.708	0.69206	0.0:0.0:0.0:1.0	rs1801466;rs52819278	138;1868	B4DWY6;P78363	.;ABCA4_HUMAN	I	660;1868;138	ENSP00000359245:N1868I;ENSP00000439707:N138I	ENSP00000359245:N1868I	N	-	2	0	ABCA4	94249055	0.987000	0.35691	0.139000	0.22197	0.062000	0.15995	3.348000	0.52209	2.111000	0.64477	0.477000	0.44152	AAT	T|0.956;A|0.044	0.044	strong		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94476467	T	A	94476467	3	1	23	1	0	0	0	0	1	0	0	0	34	1493	52	5	1262	5	ABCA4	1	94476467	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	79	94476467	154774154	201	16657										
ABCA4	24	hgsc.bcm.edu	37	chr1	94496602	94496602	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggggtgaagggtcaaagcGgggtattcgccaaaaggagg	18	6	1	1	rs1801666	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94496602G>T	ENST00000370225.3	-	28	4289	c.4203C>A	c.(4201-4203)ccC>ccA	p.P1401P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1401					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTCAAAGCGGGGTATTCGC	0.527													G|||	59	0.0117812	0.003	0.0159	5008	,	,		20260	0.0		0.0348	False		,,,				2504	0.0092				p.P1401P		Atlas-SNP	.											.	ABCA4	275	.	0			c.C4203A						PASS	.	G		32,4374	36.8+/-68.6	0,32,2171	119	101	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4203	-10	0.1	1	dbSNP_89	107	301,8299	109.6+/-170.1	4,293,4003	no	coding-synonymous	ABCA4	NM_000350.2		4,325,6174	TT,TG,GG		3.5,0.7263,2.5604		1401/2274	94496602	333,12673	2203	4300	6503	SO:0001819	synonymous_variant	24	exon28			CAAAGCGGGGTAT	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4203C>A	1.37:g.94496602G>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	85	19	0.223529	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																			T|0.019;G|0.979;A|0.002	0.019	strong		0.527	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94496602	G	T	94496602	2	4	23	1	0	0	0	0	0	0	0	1	34	1103	39	4		4	ABCA4	1	94496602	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20135	94496602	154754019	202	16658										
ARHGAP29	9411	hgsc.bcm.edu	37	chr1	94643531	94643531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacacataacatcttgtggTtgtagggacccatcgaagat	9	9	1	1	rs1048854	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:94643531T>C	ENST00000260526.6	-	21	2855	c.2673A>G	c.(2671-2673)caA>caG	p.Q891Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	891					positive regulation of Rho GTPase activity (GO:0032321)|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)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CATCTTGTGGTTGTAGGGACC	0.428													T|||	682	0.136182	0.0318	0.2147	5008	,	,		17432	0.002		0.2962	False		,,,				2504	0.1953				p.Q891Q		Atlas-SNP	.											.	ARHGAP29	132	.	0			c.A2673G						PASS	.	T		304,4102	166.9+/-198.0	10,284,1909	138	131	133		2673	3.6	1	1	dbSNP_86	133	2275,6325	383.2+/-340.6	324,1627,2349	no	coding-synonymous	ARHGAP29	NM_004815.3		334,1911,4258	CC,CT,TT		26.4535,6.8997,19.8293		891/1262	94643531	2579,10427	2203	4300	6503	SO:0001819	synonymous_variant	9411	exon21			TTGTGGTTGTAGG		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2673A>G	1.37:g.94643531T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	92	72	0.782609	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	CCDS748.1																																																																																			T|0.826;C|0.174	0.174	strong		0.428	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		C	94643531	T	C	94643531	2	2	23	1	0	0	0	0	0	0	0	1	878	1722	60	2		2	ARHGAP29	1	94643531	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	146929	94643531	154607090	203	16659										
SLC44A3	126969	hgsc.bcm.edu	37	chr1	95322903	95322903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aactttaggagctgcccaggTtatggaaggcggccaagtgg	15	8	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:95322903T>C	ENST00000271227.6	+	10	1187	c.1085T>C	c.(1084-1086)gTt>gCt	p.V362A	SLC44A3_ENST00000527077.1_Missense_Mutation_p.V294A|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.V330A|SLC44A3_ENST00000532427.1_Missense_Mutation_p.V282A|SLC44A3_ENST00000467909.1_Missense_Mutation_p.V314A|SLC44A3_ENST00000446120.2_Missense_Mutation_p.V326A|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	362					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGCCCAGGTTATGGAAGGC	0.443																																					p.V362A		Atlas-SNP	.											.	SLC44A3	109	.	0			c.T1085C						PASS	.						114	102	106					1																	95322903		2203	4300	6503	SO:0001583	missense	126969	exon10			CCCAGGTTATGGA	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1085T>C	1.37:g.95322903T>C	ENSP00000271227:p.Val362Ala	Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	112	59	0.526786	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	T	4.282	0.051417	0.08291	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.7	3.58	0.41010	.	0.152963	0.30401	N	0.009710	T	0.07593	0.0191	L	0.59436	1.845	0.09310	N	0.999997	P;B;B;P;P	0.34462	0.454;0.05;0.007;0.454;0.454	B;B;B;B;B	0.34931	0.192;0.037;0.011;0.192;0.192	T	0.25293	-1.0136	10	0.20519	T	0.43	-12.261	8.0786	0.30731	0.0:0.1799:0.0:0.8201	.	282;326;294;330;362	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	A	326;362;294;330;314;282	ENSP00000389143:V326A;ENSP00000271227:V362A;ENSP00000433641:V294A;ENSP00000431836:V330A;ENSP00000432789:V314A;ENSP00000436661:V282A	ENSP00000271227:V362A	V	+	2	0	SLC44A3	95095491	0.928000	0.31464	0.625000	0.29200	0.926000	0.56050	1.389000	0.34453	0.851000	0.35264	0.533000	0.62120	GTT	.	.	none		0.443	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		C	95322903	T	C	95322903	3	2	23	1	0	0	0	0	1	0	0	0	14637	1725	60	2	1123	2	SLC44A3	1	95322903	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	679372	95322903	153927718	204	16660										
DPYD	1806	hgsc.bcm.edu	37	chr1	97915624	97915624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcacacttacgttgtctggAaagtcagcctttagttcagt	8	9	4	0	rs17376848	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:97915624A>G	ENST00000370192.3	-	14	1996	c.1896T>C	c.(1894-1896)ttT>ttC	p.F632F		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	632					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CGTTGTCTGGAAAGTCAGCCT	0.363													A|||	261	0.0521166	0.0136	0.0821	5008	,	,		17356	0.1141		0.0368	False		,,,				2504	0.0348				p.F632F		Atlas-SNP	.											.	DPYD	219	.	0			c.T1896C						PASS	.	A		91,4315	76.8+/-115.0	1,89,2113	153	142	146		1896	-2.6	1	1	dbSNP_123	146	387,8213	123.9+/-182.7	6,375,3919	no	coding-synonymous	DPYD	NM_000110.3		7,464,6032	GG,GA,AA		4.5,2.0654,3.6752		632/1026	97915624	478,12528	2203	4300	6503	SO:0001819	synonymous_variant	1806	exon14			GTCTGGAAAGTCA	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1896T>C	1.37:g.97915624A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	96	67	0.697917	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																			A|0.951;G|0.049	0.049	strong		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		G	97915624	A	G	97915624	2	3	23	1	0	0	0	0	0	0	0	1	4745	243	9	2		2	DPYD	1	97915624	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2592721	97915624	151334997	205	16661										
CDC14A	8556	hgsc.bcm.edu	37	chr1	100949860	100949860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatacagaaaacaagcatcGttgtgggtccaaggagacat	10	7	0	2	rs2270694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:100949860G>A	ENST00000336454.3	+	11	1345	c.990G>A	c.(988-990)tcG>tcA	p.S330S	CDC14A_ENST00000544534.1_Silent_p.S330S|CDC14A_ENST00000542213.1_Silent_p.S272S|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000370124.3_Silent_p.S330S|CDC14A_ENST00000361544.6_Silent_p.S330S|RP5-837M10.4_ENST00000432210.1_RNA	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	330	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACAAGCATCGTTGTGGGTCC	0.328													G|||	442	0.0882588	0.059	0.0965	5008	,	,		17962	0.0625		0.1441	False		,,,				2504	0.091				p.S330S		Atlas-SNP	.											.	CDC14A	65	.	0			c.G990A						PASS	.	G	,,	257,4145	131.4+/-167.9	6,245,1950	39	36	37		990,990,990	-6.6	0.1	1	dbSNP_100	37	1144,7452	220.1+/-257.9	79,986,3233	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	,,	85,1231,5183	AA,AG,GG		13.3085,5.8383,10.7786	,,	330/595,330/624,330/384	100949860	1401,11597	2201	4298	6499	SO:0001819	synonymous_variant	8556	exon11			AGCATCGTTGTGG	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.990G>A	1.37:g.100949860G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	35	10	0.285714	NM_033313	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																			G|0.905;A|0.095	0.095	strong		0.328	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		A	100949860	G	A	100949860	2	1	23	1	0	0	0	0	0	0	0	1	3056	1132	40	1		1	CDC14A	1	100949860	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3034236	100949860	148300761	206	16662										
VCAM1	7412	hgsc.bcm.edu	37	chr1	101203698	101203698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagagaaaacaacaaagaCtatttttctcctgagcttct	7	8	2	3	rs3176878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:101203698C>T	ENST00000294728.2	+	9	2180	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	VCAM1_ENST00000370119.4_Silent_p.D631D|VCAM1_ENST00000370115.1_Silent_p.D494D|VCAM1_ENST00000347652.2_Silent_p.D601D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	693					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAACAAAGACTATTTTTCTC	0.318													C|||	647	0.129193	0.1672	0.2435	5008	,	,		21950	0.0208		0.1531	False		,,,				2504	0.0838				p.D693D		Atlas-SNP	.											.	VCAM1	111	.	0			c.C2079T						PASS	.	C	,,	718,3688	298.7+/-285.4	63,592,1548	153	162	159		2079,1893,1803	1.5	0.9	1	dbSNP_105	159	1449,7151	276.8+/-292.5	144,1161,2995	no	coding-synonymous,coding-synonymous,coding-synonymous	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	207,1753,4543	TT,TC,CC		16.8488,16.296,16.6615	,,	693/740,631/678,601/648	101203698	2167,10839	2203	4300	6503	SO:0001819	synonymous_variant	7412	exon9			CAAAGACTATTTT	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2079C>T	1.37:g.101203698C>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	112	78	0.696429	NM_001078	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	CCDS773.1																																																																																			C|0.854;T|0.146	0.146	strong		0.318	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		T	101203698	C	T	101203698	2	4	23	1	0	0	0	0	0	0	0	1	17134	564	20	2		2	VCAM1	1	101203698	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	253838	101203698	148046923	207	16663										
SLC25A24	29957	hgsc.bcm.edu	37	chr1	108703834	108703834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccagaaacggataatttcCtcaatgtctgtaacaggatt	7	8	2	1	rs11185293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:108703834C>T	ENST00000565488.1	-	4	699	c.480G>A	c.(478-480)gaG>gaA	p.E160E	SLC25A24_ENST00000370041.4_Silent_p.E141E	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	160					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGATAATTTCCTCAATGTCTG	0.333													C|||	172	0.034345	0.0076	0.0288	5008	,	,		16786	0.004		0.0775	False		,,,				2504	0.0613				p.E160E		Atlas-SNP	.											.	SLC25A24	65	.	0			c.G480A						PASS	.	C	,	84,4322	70.3+/-108.2	0,84,2119	105	104	104		480,423	3.6	1	1	dbSNP_120	104	765,7835	180.2+/-229.2	29,707,3564	no	coding-synonymous,coding-synonymous	SLC25A24	NM_013386.3,NM_213651.1	,	29,791,5683	TT,TC,CC		8.8953,1.9065,6.5278	,	160/478,141/459	108703834	849,12157	2203	4300	6503	SO:0001819	synonymous_variant	29957	exon4			AATTTCCTCAATG	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.480G>A	1.37:g.108703834C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	171	28	0.163743	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	CCDS41361.1																																																																																			C|0.947;T|0.053	0.053	strong		0.333	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		T	108703834	C	T	108703834	2	4	23	1	0	0	0	0	0	0	0	1	14487	680	24	2		2	SLC25A24	1	108703834	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7500136	108703834	140546787	208	16664										
C1orf59	113802	hgsc.bcm.edu	37	chr1	109200108	109200108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatccactaaatttttaaCgaactggtaccgctgtctgt	7	9	1	1	rs36100901	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109200108C>T	ENST00000370032.5	-	3	535	c.115G>A	c.(115-117)Gtt>Att	p.V39I	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.V39I|HENMT1_ENST00000370031.1_Missense_Mutation_p.V39I	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	39					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAATTTTTAACGAACTGGTAC	0.383													C|||	62	0.0123802	0.0053	0.0202	5008	,	,		17554	0.0		0.0288	False		,,,				2504	0.0123				p.V39I		Atlas-SNP	.											.	HENMT1	38	.	0			c.G115A						PASS	.	C	ILE/VAL,ILE/VAL	22,4384	29.0+/-57.7	0,22,2181	112	113	113		115,115	3.7	0.2	1	dbSNP_126	113	219,8381	91.4+/-153.5	2,215,4083	yes	missense,missense	HENMT1	NM_001102592.1,NM_144584.2	29,29	2,237,6264	TT,TC,CC		2.5465,0.4993,1.853	possibly-damaging,possibly-damaging	39/394,39/394	109200108	241,12765	2203	4300	6503	SO:0001583	missense	113802	exon3			TTTTAACGAACTG		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.115G>A	1.37:g.109200108C>T	ENSP00000359049:p.Val39Ile	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	69	53	0.768116	NM_144584	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	29	0.013278388278388278	4	0.008130081300813009	4	0.011049723756906077	0	0.0	21	0.027704485488126648	C	15.44	2.833273	0.50951	0.004993	0.025465	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.62	3.68	0.42216	.	0.067024	0.64402	D	0.000015	T	0.31327	0.0793	L	0.41573	1.285	0.48185	D	0.999609	D	0.76494	0.999	D	0.66979	0.948	T	0.05733	-1.0867	10	0.32370	T	0.25	.	8.5831	0.33642	0.0:0.813:0.0:0.187	rs36100901	39	Q5T8I9	HENMT_HUMAN	I	39	ENSP00000385655:V39I;ENSP00000359048:V39I;ENSP00000359049:V39I;ENSP00000403953:V39I	ENSP00000359048:V39I	V	-	1	0	HENMT1	109001631	0.607000	0.26958	0.229000	0.23960	0.264000	0.26372	0.956000	0.29202	1.292000	0.44672	0.655000	0.94253	GTT	C|0.984;T|0.016	0.016	strong		0.383	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		T	109200108	C	T	109200108	3	4	23	1	0	0	0	0	1	0	0	0	2051	536	19	1	1090	1	C1orf59	1	109200108	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	496274	109200108	140050513	209	16665										
AKNAD1	254268	hgsc.bcm.edu	37	chr1	109377070	109377070	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccggctgcaggacattaccCcagagttagaagacagcctc	10	14	0	3	rs12060255	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109377070C>A	ENST00000370001.3	-	9	2013	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	AKNAD1_ENST00000369994.1_Splice_Site_p.G552V|AKNAD1_ENST00000369995.3_Splice_Site_p.G582V|AKNAD1_ENST00000357393.4_Splice_Site_p.G289V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	582			G -> V (in dbSNP:rs12060255).			cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGACATTACCCCAGAGTTAGA	0.443													C|||	666	0.132987	0.2095	0.0951	5008	,	,		18089	0.12		0.1133	False		,,,				2504	0.09				p.G582V		Atlas-SNP	.											.	AKNAD1	83	.	0			c.G1745T						PASS	.	C	VAL/GLY	821,3585	301.8+/-287.1	84,653,1466	63	56	59		1745	0	0	1	dbSNP_120	59	972,7628	196.2+/-241.2	54,864,3382	yes	missense-near-splice	AKNAD1	NM_152763.3	109	138,1517,4848	AA,AC,CC		11.3023,18.6337,13.7859	possibly-damaging	582/837	109377070	1793,11213	2203	4300	6503	SO:0001630	splice_region_variant	254268	exon9			ATTACCCCAGAGT	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1746+1G>T	1.37:g.109377070C>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	36	27	0.75	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	300	0.13736263736263737	114	0.23170731707317074	37	0.10220994475138122	66	0.11538461538461539	83	0.10949868073878628	C	8.353	0.831248	0.16820	0.186337	0.113023	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.15834	3.17;2.39;3.08;3.15	3.31	-0.038	0.13881	.	.	.	.	.	T	0.02727	0.0082	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B;P	0.37864	0.396;0.61	B;B	0.30029	0.1;0.11	T	0.40079	-0.9582	8	0.42905	T	0.14	5.4051	2.5826	0.04822	0.2287:0.5013:0.0:0.2699	rs12060255	289;582	B4DET8;Q5T1N1	.;AKND1_HUMAN	V	582;289;552;582	ENSP00000359018:G582V;ENSP00000349968:G289V;ENSP00000359011:G552V;ENSP00000359012:G582V	ENSP00000349968:G289V	G	-	2	0	AKNAD1	109178593	0.007000	0.16637	0.001000	0.08648	0.052000	0.14988	0.598000	0.24074	0.207000	0.20607	0.462000	0.41574	GGG	C|0.870;A|0.130	0.130	strong		0.443	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	Missense_Mutation	A	109377070	C	A	109377070	5	1	23	1	0	0	0	0	0	0	1	0	464	637	22	4	797	4	AKNAD1	1	109377070	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	176962	109377070	139873551	210	16666										
KIAA1324	57535	hgsc.bcm.edu	37	chr1	109714593	109714593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatctggcaccgttaacttCgaatactactatccagactc	5	13	1	1	rs112023388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109714593C>T	ENST00000369939.3	+	4	756	c.573C>T	c.(571-573)ttC>ttT	p.F191F	KIAA1324_ENST00000529753.1_Silent_p.F191F	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	191					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCGTTAACTTCGAATACTACT	0.537																																					p.F191F		Atlas-SNP	.											.	KIAA1324	77	.	0			c.C573T						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	156	133	141		573	-3.8	1	1	dbSNP_132	141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KIAA1324	NM_020775.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		191/1014	109714593	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57535	exon4			TAACTTCGAATAC	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.573C>T	1.37:g.109714593C>T		Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	160	122	0.7625	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																			C|0.999;T|0.001	0.001	strong		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109714593	C	T	109714593	2	4	23	1	0	0	0	0	0	0	0	1	8223	883	31	1		1	KIAA1324	1	109714593	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	337523	109714593	139536028	211	16667										
SARS	6301	hgsc.bcm.edu	37	chr1	109779073	109779073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctggtttccgggctcagGagccttccgtgagttggtct	15	11	2	1	rs140717526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109779073G>A	ENST00000234677.2	+	9	1235	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	SARS_ENST00000369923.4_Missense_Mutation_p.G387E|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	387					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCGGGCTCAGGAGCCTTCCGT	0.507													G|||	14	0.00279553	0.0008	0.0101	5008	,	,		16569	0.0		0.005	False		,,,				2504	0.001				p.G387E		Atlas-SNP	.											.	SARS	43	.	0			c.G1160A						PASS	.	G	GLU/GLY	14,4392	21.2+/-45.6	0,14,2189	84	90	88		1160	6.1	0.8	1	dbSNP_134	88	152,8448	73.8+/-136.5	4,144,4152	yes	missense	SARS	NM_006513.3	98	4,158,6341	AA,AG,GG		1.7674,0.3177,1.2763	benign	387/515	109779073	166,12840	2203	4300	6503	SO:0001583	missense	6301	exon9			GCTCAGGAGCCTT	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1160G>A	1.37:g.109779073G>A	ENSP00000234677:p.Gly387Glu	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	86	59	0.686047	NM_006513	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	5	0.0022893772893772895	0	0.0	3	0.008287292817679558	0	0.0	2	0.002638522427440633	g	14.77	2.635160	0.47049	0.003177	0.017674	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.78924	-1.22;-1.22	6.08	6.08	0.98989	Aminoacyl-tRNA synthetase, class II (1);	0.262046	0.44902	D	0.000404	T	0.61048	0.2316	L	0.43701	1.375	0.58432	D	0.999999	B;B;B	0.27380	0.177;0.051;0.177	B;B;B	0.23275	0.036;0.045;0.045	T	0.61028	-0.7145	10	0.44086	T	0.13	-10.2916	14.8883	0.70587	0.0:0.1428:0.8572:0.0	.	387;387;387	Q53HA4;Q5T5C7;P49591	.;.;SYSC_HUMAN	E	387	ENSP00000234677:G387E;ENSP00000358939:G387E	ENSP00000234677:G387E	G	+	2	0	SARS	109580596	1.000000	0.71417	0.824000	0.32777	0.993000	0.82548	3.498000	0.53302	2.894000	0.99253	0.655000	0.94253	GGA	G|0.989;A|0.011	0.011	strong		0.507	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		A	109779073	G	A	109779073	3	1	23	1	0	0	0	0	1	0	0	0	13844	1174	41	2	1194	2	SARS	1	109779073	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	64480	109779073	139471548	212	16668										
CELSR2	1952	hgsc.bcm.edu	37	chr1	109793034	109793034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagctcctgaaggctgcccCtggagctgtcgcctcctggg	13	16	0	1	rs142746289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109793034C>T	ENST00000271332.3	+	1	394	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	111					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGGCTGCCCCTGGAGCTGTC	0.627													C|||	13	0.00259585	0.0	0.0115	5008	,	,		15400	0.0		0.004	False		,,,				2504	0.001				p.P111P	NSCLC(158;1285 2011 34800 34852 42084)	Atlas-SNP	.											.	CELSR2	228	.	0			c.C333T						PASS	.	C		12,4394		0,12,2191	67	71	70		333	-1.7	1	1	dbSNP_134	70	142,8458		5,132,4163	no	coding-synonymous	CELSR2	NM_001408.2		5,144,6354	TT,TC,CC		1.6512,0.2724,1.1841		111/2924	109793034	154,12852	2203	4300	6503	SO:0001819	synonymous_variant	1952	exon1			CTGCCCCTGGAGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.333C>T	1.37:g.109793034C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	32	24	0.75	NM_001408	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																			C|0.989;T|0.011	0.011	strong		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109793034	C	T	109793034	2	4	23	1	0	0	0	0	0	0	0	1	3222	668	24	2		2	CELSR2	1	109793034	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13961	109793034	139457587	213	16669										
SORT1	6272	hgsc.bcm.edu	37	chr1	109878903	109878903	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatcacattcactgttttCaggcttcctcaggtgcgtcc	8	13	4	0	rs2228606	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109878903C>G	ENST00000256637.6	-	11	1388	c.1330G>C	c.(1330-1332)Gaa>Caa	p.E444Q	SORT1_ENST00000538502.1_Missense_Mutation_p.E307Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	444					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCACTGTTTTCAGGCTTCCTC	0.428													C|||	22	0.00439297	0.0	0.0029	5008	,	,		21131	0.0		0.0199	False		,,,				2504	0.0				p.E444Q		Atlas-SNP	.											.	SORT1	48	.	0			c.G1330C						PASS	.	C	GLN/GLU,GLN/GLU	15,4391	21.2+/-45.6	0,15,2188	223	184	197		919,1330	5.7	1	1	dbSNP_130	197	152,8448	73.5+/-136.2	2,148,4150	yes	missense,missense	SORT1	NM_001205228.1,NM_002959.5	29,29	2,163,6338	GG,GC,CC		1.7674,0.3404,1.284	benign,benign	307/695,444/832	109878903	167,12839	2203	4300	6503	SO:0001583	missense	6272	exon11			TGTTTTCAGGCTT	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1330G>C	1.37:g.109878903C>G	ENSP00000256637:p.Glu444Gln	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	130	102	0.784615	NM_002959	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	19	0.0086996336996337	0	0.0	4	0.011049723756906077	0	0.0	15	0.01978891820580475	C	11.19	1.566647	0.28003	0.003404	0.017674	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.30182	1.54;1.54	5.69	5.69	0.88448	VPS10 (1);	0.261908	0.35805	N	0.002977	T	0.17450	0.0419	L	0.45581	1.43	0.43714	D	0.996188	B;B	0.16396	0.001;0.017	B;B	0.10450	0.001;0.005	T	0.03514	-1.1029	10	0.22706	T	0.39	-17.0522	18.5855	0.91188	0.0:1.0:0.0:0.0	.	307;444	B4DWI3;Q99523	.;SORT_HUMAN	Q	444;307	ENSP00000256637:E444Q;ENSP00000438597:E307Q	ENSP00000256637:E444Q	E	-	1	0	SORT1	109680426	0.991000	0.36638	0.995000	0.50966	0.144000	0.21451	1.857000	0.39399	2.673000	0.90976	0.655000	0.94253	GAA	C|0.986;G|0.014	0.014	strong		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		G	109878903	C	G	109878903	3	3	23	1	0	0	0	0	1	0	0	0	14935	835	29	4	1205	4	SORT1	1	109878903	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	85869	109878903	139371718	214	16670										
SORT1	6272	hgsc.bcm.edu	37	chr1	109897103	109897103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcgcaaaatctgatgatctAaagattcttcctccacgact	5	11	3	3	rs11142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:109897103A>G	ENST00000256637.6	-	5	652	c.594T>C	c.(592-594)ttT>ttC	p.F198F	SORT1_ENST00000538502.1_Silent_p.F62F|SORT1_ENST00000482236.1_5'Flank	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	198					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTGATGATCTAAAGATTCTTC	0.403													.|||	3888	0.776358	0.6884	0.853	5008	,	,		19794	0.9563		0.7147	False		,,,				2504	0.7188				p.F198F		Atlas-SNP	.											SORT1,colon,carcinoma,0,1	SORT1	48	1	0			c.T594C						PASS	.	G	,	2945,1461	471.1+/-356.0	989,967,247	152	143	146		186,594	4.2	1	1	dbSNP_52	146	6259,2341	392.2+/-343.9	2280,1699,321	no	coding-synonymous,coding-synonymous	SORT1	NM_001205228.1,NM_002959.5	,	3269,2666,568	GG,GA,AA		27.2209,33.1593,29.2327	,	62/695,198/832	109897103	9204,3802	2203	4300	6503	SO:0001819	synonymous_variant	6272	exon5			TGATCTAAAGATT	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.594T>C	1.37:g.109897103A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	78	76	0.974359	NM_002959	B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	CCDS798.1																																																																																			A|0.257;G|0.743	0.743	strong		0.403	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		G	109897103	A	G	109897103	2	3	23	1	0	0	0	0	0	0	0	1	14935	359	13	2		2	SORT1	1	109897103	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	18200	109897103	139353518	215	16671										
EPS8L3	79574	hgsc.bcm.edu	37	chr1	110301260	110301260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccctccatctgtcctggcCtggctgaaggcctccaagtc	9	18	1	1	rs6693815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:110301260C>T	ENST00000361965.4	-	7	593	c.487G>A	c.(487-489)Ggc>Agc	p.G163S	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000369805.3_Missense_Mutation_p.G164S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.G163S|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	163			G -> S (in dbSNP:rs6693815). {ECO:0000269|PubMed:12620401}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGTCCTGGCCTGGCTGAAGG	0.607													C|||	1585	0.316494	0.7239	0.2248	5008	,	,		17602	0.0556		0.1918	False		,,,				2504	0.228				p.G164S		Atlas-SNP	.											.	EPS8L3	73	.	0			c.G490A						PASS	.	C	SER/GLY,SER/GLY,SER/GLY	2703,1703	649.4+/-398.9	828,1047,328	52	52	52		487,487,490	-2.2	0	1	dbSNP_116	52	1891,6709	335.0+/-321.2	194,1503,2603	yes	missense,missense,missense	EPS8L3	NM_024526.3,NM_133181.3,NM_139053.2	56,56,56	1022,2550,2931	TT,TC,CC		21.9884,38.6518,35.3222	benign,benign,benign	163/564,163/594,164/595	110301260	4594,8412	2203	4300	6503	SO:0001583	missense	79574	exon7			CCTGGCCTGGCTG	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.487G>A	1.37:g.110301260C>T	ENSP00000355255:p.Gly163Ser	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	80	16	0.2	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	637	0.2916666666666667	351	0.7134146341463414	85	0.23480662983425415	39	0.06818181818181818	162	0.21372031662269128	C	13.57	2.277964	0.40294	0.613482	0.219884	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.59772	2.6;0.24;0.25	5.51	-2.18	0.07037	.	1.692000	0.02443	N	0.084779	T	0.07188	0.0182	N	0.02011	-0.69	0.80722	P	0.0	B;B;B;B	0.15473	0.003;0.013;0.001;0.002	B;B;B;B	0.09377	0.001;0.004;0.001;0.004	T	0.07271	-1.0781	9	0.08837	T	0.75	-0.8016	1.3281	0.02129	0.1439:0.3222:0.1401:0.3938	rs6693815;rs6693815	163;163;163;164	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	S	163;164;163	ENSP00000354551:G163S;ENSP00000358820:G164S;ENSP00000355255:G163S	ENSP00000354551:G163S	G	-	1	0	EPS8L3	110102783	0.000000	0.05858	0.003000	0.11579	0.498000	0.33706	-0.846000	0.04336	-0.055000	0.13244	0.655000	0.94253	GGC	C|0.668;T|0.332	0.332	strong		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		T	110301260	C	T	110301260	3	4	23	1	0	0	0	0	1	0	0	0	5197	681	24	2	1346	2	EPS8L3	1	110301260	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	404157	110301260	138949361	216	16672										
HBXIP	10542	hgsc.bcm.edu	37	chr1	110950439	110950439	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcacagagcctgacgaaggCttgggctccccgcgcggtga	15	14	0	3	rs6674775	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:110950439C>T	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.S17N|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CTGACGAAGGCTTGGGCTCCC	0.617													C|||	1820	0.363419	0.3056	0.379	5008	,	,		17756	0.2758		0.4453	False		,,,				2504	0.4366				p.S17N		Atlas-SNP	.											HBXIP,colon,carcinoma,0,1	.	.	1	0			c.G50A						PASS	.	C	ASN/SER	1534,2872	478.3+/-358.2	255,1024,924	43	39	41		50	-5	0	1	dbSNP_116	41	4245,4355	566.6+/-388.7	1020,2205,1075	yes	missense	HBXIP	NM_006402.2	46	1275,3229,1999	TT,TC,CC		49.3605,34.8162,44.4333	benign	17/174	110950439	5779,7227	2203	4300	6503	SO:0001631	upstream_gene_variant	10542	exon1			CGAAGGCTTGGGC	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950439C>T	Exception_encountered	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	106	78	0.735849	NM_006402	Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37		813	0.37225274725274726	173	0.3516260162601626	146	0.40331491712707185	141	0.2465034965034965	353	0.4656992084432718	C	14.27	2.485686	0.44147	0.348162	0.493605	ENSG00000134248	ENST00000256644	.	.	.	2.48	-4.97	0.03029	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.27839	-1.0062	3	.	.	.	.	1.9189	0.03303	0.1984:0.2224:0.4274:0.1518	rs6674775;rs17627162;rs59054161;rs6674775	.	.	.	N	17	.	.	S	-	2	0	HBXIP	110751962	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.666000	0.05280	-1.854000	0.01163	0.563000	0.77884	AGC	C|0.604;T|0.396	0.396	strong		0.617	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		T	110950439	C	T	110950439	1	4	23	0	1	0	0	0	0	0	0	0	6988	797	28	2		2	HBXIP	1	110950439	5'Flank	SNP	C	TCGA-GR-7353-01A-11D-2210-10	649179	110950439	138300182	217	16673										
KCNA10	3744	hgsc.bcm.edu	37	chr1	111060669	111060669	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggggtctctgaccaccttTagctccctatcctcccggaa	8	15	1	1	rs1281175	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:111060669T>C	ENST00000369771.2	-	1	1128	c.741A>G	c.(739-741)ctA>ctG	p.L247L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	247					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)	TGACCACCTTTAGCTCCCTAT	0.557													C|||	3126	0.624201	0.5144	0.7839	5008	,	,		19924	0.5853		0.7336	False		,,,				2504	0.5869				p.L247L		Atlas-SNP	.											.	KCNA10	92	.	0			c.A741G						PASS	.	C		2451,1955	553.3+/-378.7	676,1099,428	164	132	143		741	3.7	1	1	dbSNP_87	143	6283,2317	389.5+/-342.9	2289,1705,306	no	coding-synonymous	KCNA10	NM_005549.2		2965,2804,734	CC,CT,TT		26.9419,44.3713,32.8464		247/512	111060669	8734,4272	2203	4300	6503	SO:0001819	synonymous_variant	3744	exon1			CACCTTTAGCTCC	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.741A>G	1.37:g.111060669T>C		Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_005549		Silent	SNP	ENST00000369771.2	37	CCDS826.1																																																																																			T|0.326;C|0.674	0.674	strong		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		C	111060669	T	C	111060669	2	2	23	1	0	0	0	0	0	0	0	1	8002	1741	61	2		2	KCNA10	1	111060669	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	110230	111060669	138189952	218	16674										
CHI3L2	1117	hgsc.bcm.edu	37	chr1	111783982	111783982	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaaggagccaagatcacgCggctccaggatcaacaggtt	12	10	2	2	rs13721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:111783982C>A	ENST00000445067.2	+	11	1723	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	CHI3L2_ENST00000466741.1_Silent_p.R239R|CHI3L2_ENST00000369744.2_Silent_p.R308R|CHI3L2_ENST00000524472.1_Silent_p.R239R|CHI3L2_ENST00000369748.4_Silent_p.R318R|CHI3L2_ENST00000529459.1_3'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2	318			R -> W (in dbSNP:rs13721).		carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAAGATCACGCGGCTCCAGGA	0.537													A|||	953	0.190296	0.0507	0.1729	5008	,	,		20313	0.1974		0.333	False		,,,				2504	0.2372				p.R318R		Atlas-SNP	.											.	CHI3L2	38	.	0			c.C952A						PASS	.	A	,,	458,3948		30,398,1775	97	87	90		922,715,952	3.6	0	1	dbSNP_52	90	2572,6028		536,1500,2264	no	coding-synonymous,coding-synonymous,coding-synonymous	CHI3L2	NM_001025197.1,NM_001025199.1,NM_004000.2	,,	566,1898,4039	AA,AC,CC		29.907,10.3949,23.2969	,,	308/381,239/312,318/391	111783982	3030,9976	2203	4300	6503	SO:0001819	synonymous_variant	1117	exon9			ATCACGCGGCTCC	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.952C>A	1.37:g.111783982C>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	77	60	0.779221	NM_004000	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Silent	SNP	ENST00000445067.2	37	CCDS30802.1																																																																																			A|0.280;C|0.697;T|0.022	0.280	strong		0.537	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		A	111783982	C	A	111783982	2	1	23	1	0	0	0	0	0	0	0	1	3341	759	27	4		4	CHI3L2	1	111783982	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	723313	111783982	137466639	219	16675										
CHIA	27159	hgsc.bcm.edu	37	chr1	111854889	111854889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggcgcttcatgcctgacAacatcgacccctgcctctgt	10	15	2	1	rs41282492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:111854889A>G	ENST00000369740.1	+	4	236	c.133A>G	c.(133-135)Aac>Gac	p.N45D	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.N45D|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	45			N -> D (increased chitinase activity; when associated with N-47 and M-61; dbSNP:rs41282492). {ECO:0000269|PubMed:19435888}.		apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CATGCCTGACAACATCGACCC	0.572													G|||	544	0.108626	0.2126	0.0836	5008	,	,		17991	0.0		0.1093	False		,,,				2504	0.0971				p.N45D		Atlas-SNP	.											CHIA_ENST00000369740,NS,carcinoma,-1,1	CHIA	115	1	0			c.A133G						PASS	.	G	,ASP/ASN	775,3397		67,641,1378	96	97	97		,133	-2.9	0	1	dbSNP_127	97	976,7454		49,878,3288	yes	intron,missense	CHIA	NM_021797.2,NM_201653.2	,23	116,1519,4666	GG,GA,AA		11.5777,18.5762,13.8946	,benign	,45/477	111854889	1751,10851	2086	4215	6301	SO:0001583	missense	27159	exon4			CCTGACAACATCG	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.133A>G	1.37:g.111854889A>G	ENSP00000358755:p.Asn45Asp	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	109	11	0.100917	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	229	0.10485347985347986	105	0.21341463414634146	36	0.09944751381215469	0	0.0	88	0.11609498680738786	G	0.032	-1.328299	0.01309	0.185762	0.115777	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04654	3.58;3.58	5.08	-2.92	0.05615	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.460557	0.17861	N	0.159511	T	0.00637	0.0021	N	0.10760	0.04	0.24700	P	0.99326224	B	0.02656	0.0	B	0.14023	0.01	T	0.44345	-0.9334	9	0.02654	T	1	-5.6473	13.4826	0.61345	0.6795:0.0:0.3205:0.0	rs41282492;rs61752465	45	Q9BZP6	CHIA_HUMAN	D	45	ENSP00000358755:N45D;ENSP00000341828:N45D	ENSP00000341828:N45D	N	+	1	0	CHIA	111656412	0.001000	0.12720	0.006000	0.13384	0.382000	0.30200	0.070000	0.14573	-0.854000	0.04131	-0.766000	0.03442	AAC	A|0.881;G|0.119	0.119	strong		0.572	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			G	111854889	A	G	111854889	3	3	23	1	0	0	0	0	1	0	0	0	3342	130	5	2	143	2	CHIA	1	111854889	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	70907	111854889	137395732	220	16676										
ATP5F1	515	hgsc.bcm.edu	37	chr1	111998734	111998734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtactcggaactgggcttAtcttgtacgctttatccaaa	8	9	1	0	rs151112830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:111998734A>G	ENST00000369722.3	+	4	856	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.I23V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	84				I -> V (in Ref. 1; CAA42782). {ECO:0000305}.	ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACTGGGCTTATCTTGTACGC	0.373													A|||	9	0.00179712	0.0	0.0029	5008	,	,		19966	0.0		0.006	False		,,,				2504	0.001				p.I84V		Atlas-SNP	.											.	ATP5F1	20	.	0			c.A250G						PASS	.	A	VAL/ILE	3,4403	6.2+/-15.9	0,3,2200	167	166	166		250	3.9	1	1	dbSNP_134	166	35,8565	23.4+/-69.3	0,35,4265	yes	missense	ATP5F1	NM_001688.4	29	0,38,6465	GG,GA,AA		0.407,0.0681,0.2922	benign	84/257	111998734	38,12968	2203	4300	6503	SO:0001583	missense	515	exon4			GGGCTTATCTTGT	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.250A>G	1.37:g.111998734A>G	ENSP00000358737:p.Ile84Val	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	38	7	0.184211	NM_001688	Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	CCDS836.1	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	10.49	1.365555	0.24684	6.81E-4	0.00407	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.33216	1.42;1.42	5.21	3.91	0.45181	.	0.280632	0.40908	D	0.000985	T	0.07413	0.0187	L	0.38175	1.15	0.25064	N	0.991048	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.21449	-1.0245	10	0.15952	T	0.53	.	5.0056	0.14286	0.4859:0.3811:0.133:0.0	rs11553285	84;84	Q08ET0;P24539	.;AT5F1_HUMAN	V	84;23	ENSP00000358737:I84V;ENSP00000420366:I23V	ENSP00000358737:I84V	I	+	1	0	ATP5F1	111800257	0.964000	0.33143	1.000000	0.80357	0.721000	0.41392	1.653000	0.37323	2.096000	0.63516	0.533000	0.62120	ATC	A|0.998;G|0.002	0.002	strong		0.373	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		G	111998734	A	G	111998734	3	3	23	1	0	0	0	0	1	0	0	0	1152	449	16	2	264	2	ATP5F1	1	111998734	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	143845	111998734	137251887	221	16677										
ADORA3	140	hgsc.bcm.edu	37	chr1	112043139	112043139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagccagcaaaggcccagGgccagccatattcttctgtg	10	14	2	0	rs2789537	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:112043139G>A	ENST00000241356.4	-	2	795	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	130					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AAAGGCCCAGGGCCAGCCATA	0.507													G|||	108	0.0215655	0.0272	0.0144	5008	,	,		20977	0.0109		0.0209	False		,,,				2504	0.0307				p.A130A		Atlas-SNP	.											.	ADORA3	104	.	0			c.C390T						PASS	.	G	,,	100,4306	77.3+/-115.6	1,98,2104	84	94	90		390,,	0.1	1	1	dbSNP_100	90	160,8440	76.0+/-138.7	2,156,4142	no	coding-synonymous,intron,intron	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	,,	3,254,6246	AA,AG,GG		1.8605,2.2696,1.9991	,,	130/319,,	112043139	260,12746	2203	4300	6503	SO:0001819	synonymous_variant	140	exon2			GCCCAGGGCCAGC	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.390C>T	1.37:g.112043139G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	71	18	0.253521	NM_000677	A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	CCDS839.1																																																																																			G|0.981;A|0.019	0.019	strong		0.507	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		A	112043139	G	A	112043139	2	1	23	1	0	0	0	0	0	0	0	1	329	1219	43	2		2	ADORA3	1	112043139	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	44405	112043139	137207482	222	16678										
DDX20	11218	hgsc.bcm.edu	37	chr1	112309230	112309230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacttaaagagggggctagCcagagagctaagcagagccg	15	8	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:112309230C>T	ENST00000369702.4	+	11	2804	c.2184C>T	c.(2182-2184)agC>agT	p.S728S	DDX20_ENST00000475700.1_Silent_p.S336S	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	728					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGGGCTAGCCAGAGAGCTA	0.483																																					p.S728S		Atlas-SNP	.											.	DDX20	50	.	0			c.C2184T						PASS	.						65	67	66					1																	112309230		2203	4300	6503	SO:0001819	synonymous_variant	11218	exon11			GGCTAGCCAGAGA	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2184C>T	1.37:g.112309230C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																			.	.	none		0.483	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		T	112309230	C	T	112309230	2	4	23	1	0	0	0	0	0	0	0	1	4348	738	26	2		2	DDX20	1	112309230	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	266091	112309230	136941391	223	16679										
CTTNBP2NL	55917	hgsc.bcm.edu	37	chr1	112991698	112991698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcagccagtctgcacaaaTccactctctattcttaaggt	6	12	3	0	rs2256883	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:112991698T>C	ENST00000271277.6	+	4	459	c.234T>C	c.(232-234)aaT>aaC	p.N78N		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	78					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.N78N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGCACAAATCCACTCTCTA	0.458													C|||	2631	0.525359	0.3238	0.5692	5008	,	,		18306	0.4464		0.66	False		,,,				2504	0.7096				p.N78N		Atlas-SNP	.											CTTNBP2NL,NS,carcinoma,0,1	CTTNBP2NL	65	1	1	Substitution - coding silent(1)	stomach(1)	c.T234C						PASS	.	C		1698,2708	653.7+/-399.6	320,1058,825	73	70	71		234	3.8	1	1	dbSNP_100	71	5574,3026	465.3+/-366.5	1786,2002,512	no	coding-synonymous	CTTNBP2NL	NM_018704.2		2106,3060,1337	CC,CT,TT		35.186,38.5384,44.0873		78/640	112991698	7272,5734	2203	4300	6503	SO:0001819	synonymous_variant	55917	exon4			CACAAATCCACTC	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.234T>C	1.37:g.112991698T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	102	100	0.980392	NM_018704	B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	CCDS845.1																																																																																			T|0.457;C|0.543	0.543	strong		0.458	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		C	112991698	T	C	112991698	2	2	23	1	0	0	0	0	0	0	0	1	4046	1432	50	2		2	CTTNBP2NL	1	112991698	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	682468	112991698	136258923	224	16680										
FAM19A3	284467	hgsc.bcm.edu	37	chr1	113264930	113264930	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcctggcctggctgtggacCcacctgaccttggctgcctt	12	15	0	1	rs35995150	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:113264930C>G	ENST00000361886.3	+	2	134	c.75C>G	c.(73-75)acC>acG	p.T25T	FAM19A3_ENST00000369630.3_Silent_p.T25T	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	25						extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGTGGACCCACCTGACCT	0.662													C|||	276	0.0551118	0.0045	0.049	5008	,	,		16390	0.001		0.1302	False		,,,				2504	0.1063				p.T25T		Atlas-SNP	.											.	FAM19A3	10	.	0			c.C75G						PASS	.	C	,	121,4285	88.2+/-126.9	2,117,2084	67	65	66		75,75	-3.3	0	1	dbSNP_126	66	1179,7421	239.6+/-270.6	77,1025,3198	no	coding-synonymous,coding-synonymous	FAM19A3	NM_001004440.1,NM_182759.2	,	79,1142,5282	GG,GC,CC		13.7093,2.7463,9.9954	,	25/170,25/134	113264930	1300,11706	2203	4300	6503	SO:0001819	synonymous_variant	284467	exon2			GTGGACCCACCTG	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.75C>G	1.37:g.113264930C>G		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	102	84	0.823529	NM_001004440	B7ZLU0|Q2M1P9|Q7Z5A6	Silent	SNP	ENST00000361886.3	37	CCDS856.1																																																																																			C|0.909;G|0.091	0.091	strong		0.662	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759		G	113264930	C	G	113264930	2	3	23	1	0	0	0	0	0	0	0	1	5533	610	22	4		4	FAM19A3	1	113264930	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	273232	113264930	135985691	225	16681										
CSDE1	7812	hgsc.bcm.edu	37	chr1	115269685	115269685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtttcaccccacagtcatcAtaagcaataatgccatcctc	4	14	3	0	rs150190370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:115269685A>G	ENST00000358528.4	-	13	1809	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	CSDE1_ENST00000369530.1_Silent_p.Y476Y|CSDE1_ENST00000530886.1_Silent_p.Y331Y|CSDE1_ENST00000261443.5_Silent_p.Y430Y|CSDE1_ENST00000438362.2_Silent_p.Y507Y|CSDE1_ENST00000534699.1_Silent_p.Y461Y|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000339438.6_Silent_p.Y430Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	461	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAGTCATCATAAGCAATAA	0.368													A|||	7	0.00139776	0.0	0.0	5008	,	,		18398	0.0069		0.0	False		,,,				2504	0.0				p.Y507Y		Atlas-SNP	.											.	CSDE1	145	.	0			c.T1521C						PASS	.						140	122	128					1																	115269685		2203	4300	6503	SO:0001819	synonymous_variant	7812	exon14			GTCATCATAAGCA		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1383T>C	1.37:g.115269685A>G		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_001242891	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	CCDS30812.1																																																																																			A|0.997;G|0.003	0.003	strong		0.368	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		G	115269685	A	G	115269685	2	3	23	1	0	0	0	0	0	0	0	1	3929	224	8	2		2	CSDE1	1	115269685	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2004755	115269685	133980936	226	16682										
CD101	9398	hgsc.bcm.edu	37	chr1	117560058	117560058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccaggccagagatctgagCtggactcagaagatttcagt	11	9	3	4	rs17235773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:117560058C>G	ENST00000256652.4	+	5	1633	c.1575C>G	c.(1573-1575)agC>agG	p.S525R	CD101_ENST00000369470.1_Missense_Mutation_p.S525R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	525	Ig-like C2-type 4.		S -> R (in dbSNP:rs17235773).		cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGATCTGAGCTGGACTCAGA	0.473													C|||	169	0.033746	0.0522	0.0461	5008	,	,		22414	0.0		0.0596	False		,,,				2504	0.0082				p.S525R		Atlas-SNP	.											.	CD101	95	.	0			c.C1575G						PASS	.	C	ARG/SER	304,4102	164.0+/-195.7	8,288,1907	71	74	73		1575	2.6	0.4	1	dbSNP_123	73	558,8042	151.8+/-206.5	22,514,3764	yes	missense	CD101	NM_004258.3	110	30,802,5671	GG,GC,CC		6.4884,6.8997,6.6277	probably-damaging	525/1022	117560058	862,12144	2203	4300	6503	SO:0001583	missense	9398	exon5			TCTGAGCTGGACT	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1575C>G	1.37:g.117560058C>G	ENSP00000256652:p.Ser525Arg	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	88	18	0.204545	NM_001256109	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	93	0.042582417582417584	31	0.06300813008130081	15	0.04143646408839779	0	0.0	47	0.06200527704485488	C	15.24	2.776063	0.49786	0.068997	0.064884	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22336	1.96;1.96	4.52	2.59	0.31030	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.767080	0.12461	N	0.466920	T	0.14874	0.0359	M	0.62723	1.935	0.29048	N	0.884698	P	0.50710	0.938	P	0.50314	0.637	T	0.07731	-1.0757	10	0.72032	D	0.01	0.0806	5.94	0.19187	0.0:0.6883:0.2048:0.107	rs17235773	525	Q93033	IGSF2_HUMAN	R	525	ENSP00000256652:S525R;ENSP00000358482:S525R	ENSP00000256652:S525R	S	+	3	2	CD101	117361581	0.066000	0.20996	0.440000	0.26846	0.797000	0.45037	0.049000	0.14099	0.611000	0.30052	0.655000	0.94253	AGC	C|0.944;G|0.056	0.056	strong		0.473	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		G	117560058	C	G	117560058	3	3	23	1	0	0	0	0	1	0	0	0	2962	796	28	4	1593	4	CD101	1	117560058	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2290373	117560058	131690563	227	16683										
CD101	9398	hgsc.bcm.edu	37	chr1	117568217	117568217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgctgcagcctggagagtGtaggcagctcagccactctg	13	13	2	1	rs17229382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:117568217G>A	ENST00000256652.4	+	8	2573	c.2515G>A	c.(2515-2517)Gta>Ata	p.V839I	CD101_ENST00000369470.1_Missense_Mutation_p.V839I|RP11-27K13.3_ENST00000445523.1_RNA|RP11-27K13.3_ENST00000421254.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	839	Ig-like C2-type 7.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTGGAGAGTGTAGGCAGCTC	0.478													G|||	39	0.00778754	0.0015	0.0346	5008	,	,		17548	0.001		0.0119	False		,,,				2504	0.0				p.V839I		Atlas-SNP	.											.	CD101	95	.	0			c.G2515A						PASS	.	G	ILE/VAL	18,4388	26.2+/-53.5	0,18,2185	82	81	81		2515	-9.1	0	1	dbSNP_123	81	157,8443	75.1+/-137.7	3,151,4146	yes	missense	CD101	NM_004258.3	29	3,169,6331	AA,AG,GG		1.8256,0.4085,1.3455	benign	839/1022	117568217	175,12831	2203	4300	6503	SO:0001583	missense	9398	exon8			GAGAGTGTAGGCA	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2515G>A	1.37:g.117568217G>A	ENSP00000256652:p.Val839Ile	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	32	25	0.78125	NM_001256109	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	30	0.013736263736263736	2	0.0040650406504065045	14	0.03867403314917127	2	0.0034965034965034965	12	0.0158311345646438	G	2.813	-0.246589	0.05867	0.004085	0.018256	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.21543	2.0;2.0	5.17	-9.11	0.00711	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.471490	0.04169	N	0.324475	T	0.03915	0.0110	N	0.22421	0.69	0.09310	N	1	B	0.20164	0.042	B	0.22152	0.038	T	0.23762	-1.0179	10	0.33141	T	0.24	1.885	9.9611	0.41697	0.0:0.4097:0.432:0.1584	rs17229382;rs17229382	839	Q93033	IGSF2_HUMAN	I	839	ENSP00000256652:V839I;ENSP00000358482:V839I	ENSP00000256652:V839I	V	+	1	0	CD101	117369740	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.812000	0.01726	-1.695000	0.01423	-0.867000	0.03001	GTA	G|0.987;A|0.013	0.013	strong		0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		A	117568217	G	A	117568217	3	1	23	1	0	0	0	0	1	0	0	0	2962	1377	48	2	2545	2	CD101	1	117568217	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8159	117568217	131682404	228	16684										
VTCN1	79679	hgsc.bcm.edu	37	chr1	117753455	117753455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatatactacctccagaagAggatctgccccagggaagcc	10	12	1	2	rs34957002	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:117753455A>G	ENST00000369458.3	-	1	101	c.23T>C	c.(22-24)cTc>cCc	p.L8P	VTCN1_ENST00000328189.3_Missense_Mutation_p.L8P|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CCTCCAGAAGAGGATCTGCCC	0.557													A|||	35	0.00698882	0.0008	0.0159	5008	,	,		20543	0.0		0.0189	False		,,,				2504	0.0041				p.L8P		Atlas-SNP	.											.	VTCN1	26	.	0			c.T23C						PASS	.	A	PRO/LEU	24,4382	29.9+/-59.1	0,24,2179	93	94	93		23	3.8	1	1	dbSNP_126	93	204,8396	88.4+/-150.7	1,202,4097	yes	missense	VTCN1	NM_024626.2	98	1,226,6276	GG,GA,AA		2.3721,0.5447,1.753	benign	8/283	117753455	228,12778	2203	4300	6503	SO:0001583	missense	79679	exon1			CAGAAGAGGATCT	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.23T>C	1.37:g.117753455A>G	ENSP00000358470:p.Leu8Pro	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	49	36	0.734694	NM_001253850		Missense_Mutation	SNP	ENST00000369458.3	37	CCDS894.1	23	0.010531135531135532	0	0.0	8	0.022099447513812154	0	0.0	15	0.01978891820580475	A	13.96	2.393669	0.42410	0.005447	0.023721	ENSG00000134258	ENST00000369458;ENST00000328189	T;T	0.28069	3.18;1.63	3.81	3.81	0.43845	.	4.750870	0.02239	N	0.065550	T	0.09158	0.0226	N	0.08118	0	0.80722	D	1	B;B	0.31790	0.101;0.34	B;B	0.29077	0.019;0.098	T	0.04281	-1.0963	10	0.87932	D	0	.	9.1289	0.36833	1.0:0.0:0.0:0.0	rs34957002	8;8	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	P	8	ENSP00000358470:L8P;ENSP00000328168:L8P	ENSP00000328168:L8P	L	-	2	0	VTCN1	117554978	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.949000	0.56668	1.721000	0.51461	0.455000	0.32223	CTC	A|0.983;G|0.017	0.017	strong		0.557	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		G	117753455	A	G	117753455	3	3	23	1	0	0	0	0	1	0	0	0	17231	304	11	3	845	3	VTCN1	1	117753455	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	185238	117753455	131497166	229	16685										
FAM46C	54855	hgsc.bcm.edu	37	chr1	118166385	118166385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaaaaccacttcgctgaaGaagagagaagcaagtacgac	9	9	1	4	rs145471785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118166385G>A	ENST00000369448.3	+	2	1142	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	299										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCGCTGAAGAAGAGAGAAG	0.517			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			G|||	13	0.00259585	0.0	0.0029	5008	,	,		22262	0.0		0.0089	False		,,,				2504	0.002				p.E299K		Atlas-SNP	.		Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	.	FAM46C	25	.	0			c.G895A						PASS	.	G	LYS/GLU	5,4401	9.9+/-24.2	0,5,2198	123	116	118		895	5.7	0.9	1	dbSNP_134	118	91,8509	51.1+/-111.2	1,89,4210	yes	missense	FAM46C	NM_017709.3	56	1,94,6408	AA,AG,GG		1.0581,0.1135,0.7381	possibly-damaging	299/392	118166385	96,12910	2203	4300	6503	SO:0001583	missense	54855	exon2			GCTGAAGAAGAGA	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.895G>A	1.37:g.118166385G>A	ENSP00000358458:p.Glu299Lys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	53	39	0.735849	NM_017709	A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	CCDS896.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	G	22.3	4.273089	0.80580	0.001135	0.010581	ENSG00000183508	ENST00000369448	T	0.22945	1.93	5.7	5.7	0.88788	Domain of unknown function DUF1693 (1);	0.079249	0.51477	D	0.000094	T	0.27454	0.0674	M	0.79693	2.465	0.80722	D	1	B	0.26902	0.163	B	0.34452	0.183	T	0.05131	-1.0904	10	0.33940	T	0.23	-11.7413	18.8168	0.92079	0.0:0.0:1.0:0.0	.	299	Q5VWP2	FA46C_HUMAN	K	299	ENSP00000358458:E299K	ENSP00000358458:E299K	E	+	1	0	FAM46C	117967908	1.000000	0.71417	0.894000	0.35097	0.979000	0.70002	5.244000	0.65400	2.686000	0.91538	0.655000	0.94253	GAA	G|0.995;A|0.005	0.005	strong		0.517	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		A	118166385	G	A	118166385	3	1	23	1	0	0	0	0	1	0	0	0	5567	943	33	2	897	2	FAM46C	1	118166385	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	412930	118166385	131084236	230	16686										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118530796	118530796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttggaggcgtagccaaagaCtgcttgaataaatcagttag	11	6	1	2	rs12040811	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118530796C>T	ENST00000336338.5	-	39	5618	c.5553G>A	c.(5551-5553)caG>caA	p.Q1851Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1851						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAGCCAAAGACTGCTTGAATA	0.363													c|||	693	0.138379	0.0522	0.0461	5008	,	,		19230	0.3403		0.0626	False		,,,				2504	0.1902				p.Q1851Q		Atlas-SNP	.											.	SPAG17	263	.	0			c.G5553A						PASS	.	T		216,4190	131.0+/-167.6	3,210,1990	65	62	63		5553	-3.5	0.1	1	dbSNP_120	63	496,8104	142.3+/-198.5	16,464,3820	no	coding-synonymous	SPAG17	NM_206996.2		19,674,5810	TT,TC,CC		5.7674,4.9024,5.4744		1851/2224	118530796	712,12294	2203	4300	6503	SO:0001819	synonymous_variant	200162	exon39			CAAAGACTGCTTG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5553G>A	1.37:g.118530796C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	92	56	0.608696	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																			C|0.915;T|0.085	0.085	strong		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118530796	C	T	118530796	2	4	23	1	0	0	0	0	0	0	0	1	14979	564	20	2		2	SPAG17	1	118530796	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	364411	118530796	130719825	231	16687										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118537074	118537074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccttgaccggagattaggAgggacaattgtatcttcctt	11	8	1	2	rs12031260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118537074A>G	ENST00000336338.5	-	35	5198	c.5133T>C	c.(5131-5133)ccT>ccC	p.P1711P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1711						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGAGATTAGGAGGGACAATTG	0.418													A|||	643	0.128395	0.034	0.0418	5008	,	,		19044	0.3204		0.0616	False		,,,				2504	0.1881				p.P1711P		Atlas-SNP	.											.	SPAG17	263	.	0			c.T5133C						PASS	.	A		182,4224	115.0+/-153.0	4,174,2025	189	165	173		5133	2	1	1	dbSNP_120	173	491,8107	143.0+/-199.1	16,459,3824	no	coding-synonymous	SPAG17	NM_206996.2		20,633,5849	GG,GA,AA		5.7106,4.1307,5.1753		1711/2224	118537074	673,12331	2203	4299	6502	SO:0001819	synonymous_variant	200162	exon35			ATTAGGAGGGACA		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5133T>C	1.37:g.118537074A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	60	42	0.7	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																			A|0.919;G|0.081	0.081	strong		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118537074	A	G	118537074	2	3	23	1	0	0	0	0	0	0	0	1	14979	291	11	3		3	SPAG17	1	118537074	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6278	118537074	130713547	232	16688										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118624123	118624123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatctggcagggttgtcccaCggtatgttgaacatttcaga	11	8	2	2	rs2298176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118624123C>T	ENST00000336338.5	-	14	1970	c.1905G>A	c.(1903-1905)ccG>ccA	p.P635P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	635						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGTTGTCCCACGGTATGTTGA	0.438													T|||	633	0.126398	0.053	0.0447	5008	,	,		21696	0.2877		0.0596	False		,,,				2504	0.1861				p.P635P		Atlas-SNP	.											.	SPAG17	263	.	0			c.G1905A						PASS	.	T		258,4148	803.5+/-415.7	6,246,1951	189	177	181		1905	-5	0.9	1	dbSNP_100	181	489,8111	797.1+/-407.5	16,457,3827	no	coding-synonymous	SPAG17	NM_206996.2		22,703,5778	TT,TC,CC		5.686,5.8557,5.7435		635/2224	118624123	747,12259	2203	4300	6503	SO:0001819	synonymous_variant	200162	exon14			GTCCCACGGTATG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1905G>A	1.37:g.118624123C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	87	79	0.908046	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																			C|0.922;T|0.078	0.078	strong		0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118624123	C	T	118624123	2	4	23	1	0	0	0	0	0	0	0	1	14979	523	19	1		1	SPAG17	1	118624123	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	87049	118624123	130626498	233	16689										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118629599	118629599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggatggctcccgcagactGggtgggacgagatcttcttc	16	10	2	2	rs12142616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118629599G>A	ENST00000336338.5	-	11	1457	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	464						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCCGCAGACTGGGTGGGACGA	0.522													G|||	660	0.131789	0.0749	0.0461	5008	,	,		17193	0.2847		0.0596	False		,,,				2504	0.1861				p.P464P		Atlas-SNP	.											.	SPAG17	263	.	0			c.C1392T						PASS	.	G		339,4067	175.1+/-204.6	12,315,1876	126	123	124		1392	-10.1	0	1	dbSNP_120	124	489,8111	143.0+/-199.1	16,457,3827	no	coding-synonymous	SPAG17	NM_206996.2		28,772,5703	AA,AG,GG		5.686,7.6941,6.3663		464/2224	118629599	828,12178	2203	4300	6503	SO:0001819	synonymous_variant	200162	exon11			CAGACTGGGTGGG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1392C>T	1.37:g.118629599G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	67	52	0.776119	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																			G|0.923;A|0.077	0.077	strong		0.522	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118629599	G	A	118629599	2	1	23	1	0	0	0	0	0	0	0	1	14979	1335	47	2		2	SPAG17	1	118629599	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5476	118629599	130621022	234	16690										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118657952	118657952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcttttcattttcccgtCgctgttggtccttaaattta	5	11	2	0	rs12133381	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118657952C>T	ENST00000336338.5	-	4	493	c.428G>A	c.(427-429)cGa>cAa	p.R143Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.		R -> Q (in dbSNP:rs12133381).			cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTTCCCGTCGCTGTTGGTC	0.423													C|||	531	0.10603	0.0038	0.0346	5008	,	,		15848	0.2728		0.0586	False		,,,				2504	0.1718				p.R143Q		Atlas-SNP	.											.	SPAG17	263	.	0			c.G428A						PASS	.	C	GLN/ARG	67,4337	61.1+/-98.1	0,67,2135	127	130	129		428	5	1	1	dbSNP_120	129	469,8131	139.7+/-196.3	15,439,3846	yes	missense	SPAG17	NM_206996.2	43	15,506,5981	TT,TC,CC		5.4535,1.5213,4.1218	probably-damaging	143/2224	118657952	536,12468	2202	4300	6502	SO:0001583	missense	200162	exon4			TCCCGTCGCTGTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.428G>A	1.37:g.118657952C>T	ENSP00000337804:p.Arg143Gln	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	112	85	0.758929	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	195	0.08928571428571429	3	0.006097560975609756	14	0.03867403314917127	134	0.23426573426573427	44	0.05804749340369393	C	12.20	1.867742	0.32977	0.015213	0.054535	ENSG00000155761	ENST00000336338	T	0.68331	-0.32	5.92	5.02	0.67125	.	0.164379	0.52532	D	0.000079	T	0.51449	0.1675	M	0.78049	2.395	0.43088	P	0.005241000000000051	P	0.39624	0.681	B	0.29440	0.102	T	0.65553	-0.6140	9	0.87932	D	0	.	14.1699	0.65503	0.0:0.9286:0.0:0.0714	rs12133381;rs52830739;rs12133381	143	Q6Q759	SPG17_HUMAN	Q	143	ENSP00000337804:R143Q	ENSP00000337804:R143Q	R	-	2	0	SPAG17	118459475	1.000000	0.71417	0.975000	0.42487	0.087000	0.18053	2.496000	0.45346	1.522000	0.49001	-0.136000	0.14681	CGA	C|0.932;T|0.068	0.068	strong		0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118657952	C	T	118657952	3	4	23	1	0	0	0	0	1	0	0	0	14979	884	31	1	6423	1	SPAG17	1	118657952	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28353	118657952	130592669	235	16691										
SPAG17	200162	hgsc.bcm.edu	37	chr1	118693217	118693217	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtttttttgcctttttagaTgaagcagatccaacaagtgt	9	6	0	3	rs1935992	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:118693217T>C	ENST00000336338.5	-	3	329	c.264A>G	c.(262-264)tcA>tcG	p.S88S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	88						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTTTTTAGATGAAGCAGATC	0.259													T|||	1137	0.227037	0.0129	0.3458	5008	,	,		15639	0.4048		0.2356	False		,,,				2504	0.2403				p.S88S		Atlas-SNP	.											SPAG17,NS,carcinoma,0,1	SPAG17	263	1	0			c.A264G						scavenged	.	T		213,4183	122.5+/-159.9	7,199,1992	69	71	70		264	0.9	0	1	dbSNP_92	70	1868,6702	326.4+/-317.4	206,1456,2623	no	coding-synonymous	SPAG17	NM_206996.2		213,1655,4615	CC,CT,TT		21.797,4.8453,16.0497		88/2224	118693217	2081,10885	2198	4285	6483	SO:0001819	synonymous_variant	200162	exon3			TTTAGATGAAGCA		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.264A>G	1.37:g.118693217T>C		Somatic	269	2	0.00743494		WXS	Illumina HiSeq	Phase_I	148	34	0.22973	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																			C|0.210;N|0.000	0.210	strong		0.259	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118693217	T	C	118693217	2	2	23	1	0	0	0	0	0	0	0	1	14979	1451	51	2		2	SPAG17	1	118693217	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	35265	118693217	130557404	236	16692										
HSD3B1	3283	hgsc.bcm.edu	37	chr1	120056849	120056849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtggcctgggcccacattCtggccttgagggccctgcag	14	13	1	1	rs141977722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:120056849C>T	ENST00000369413.3	+	4	848	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	HSD3B1_ENST00000235547.6_Silent_p.L237L|HSD3B1_ENST00000528909.1_Silent_p.L235L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	235					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GGCCCACATTCTGGCCTTGAG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18576	0.0		0.002	False		,,,				2504	0.0				p.L235L		Atlas-SNP	.											.	HSD3B1	53	.	0			c.C703T						PASS	.	C		0,4406		0,0,2203	64	69	68		703	1.2	1	1	dbSNP_134	68	20,8580	11.2+/-40.8	0,20,4280	no	coding-synonymous	HSD3B1	NM_000862.2		0,20,6483	TT,TC,CC		0.2326,0.0,0.1538		235/374	120056849	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	3283	exon4			CACATTCTGGCCT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.703C>T	1.37:g.120056849C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	175	65	0.371429	NM_000862	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																			C|0.998;T|0.002	0.002	strong		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		T	120056849	C	T	120056849	2	4	23	1	0	0	0	0	0	0	0	1	7390	912	32	2		2	HSD3B1	1	120056849	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1363632	120056849	129193772	237	16693										
ZNF697	90874	hgsc.bcm.edu	37	chr1	120166528	120166528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccgactccccagggagagAtgtcgcctccagggaagtac	13	13	0	1	rs374393078		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:120166528A>G	ENST00000421812.2	-	3	557	c.438T>C	c.(436-438)caT>caC	p.H146H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CCAGGGAGAGATGTCGCCTCC	0.706																																					p.H146H		Atlas-SNP	.											.	ZNF697	26	.	0			c.T438C						PASS	.	A		1,3997		0,1,1998	15	19	18		438	-2.7	0.9	1		18	0,8274		0,0,4137	no	coding-synonymous	ZNF697	NM_001080470.1		0,1,6135	GG,GA,AA		0.0,0.025,0.0081		146/546	120166528	1,12271	1999	4137	6136	SO:0001819	synonymous_variant	90874	exon3			GGAGAGATGTCGC	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.438T>C	1.37:g.120166528A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	162	40	0.246914	NM_001080470	Q96IT2	Silent	SNP	ENST00000421812.2	37	CCDS44202.1																																																																																			.	.	none		0.706	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		G	120166528	A	G	120166528	2	3	23	1	0	0	0	0	0	0	0	1	18097	330	12	2		2	ZNF697	1	120166528	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	109679	120166528	129084093	238	16694										
NBPF7	343505	hgsc.bcm.edu	37	chr1	120387120	120387120	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgacgtttgtggcagaagaGgtggagccagggactgggga	20	5	0	3	rs12405228	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:120387120G>A								REG4 (32837 upstream) : ADAM30 (49035 downstream)																							TGGCAGAAGAGGTGGAGCCAG	0.488											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1793	0.358027	0.0416	0.4827	5008	,	,		19791	0.3641		0.5835	False		,,,				2504	0.4591				p.T13T		Atlas-SNP	.											.	NBPF7	46	.	0			c.C39T						PASS	.	G		529,3737		49,431,1653	79	86	84		39	0.7	0.4	1	dbSNP_120	84	4846,3696		1390,2066,815	no	coding-synonymous	NBPF7	NM_001047980.1		1439,2497,2468	AA,AG,GG		43.2686,12.4004,41.966		13/422	120387120	5375,7433	2133	4271	6404	SO:0001628	intergenic_variant	343505	exon1			AGAAGAGGTGGAG																													1.37:g.120387120G>A		Somatic	63	0	0	1503	WXS	Illumina HiSeq	Phase_I	87	36	0.413793	NM_001047980		Silent	SNP		37																																																																																				G|0.564;A|0.436	0.436	strong	0	0.488									A	120387120	G	A	120387120	1	1	23	0	1	0	0	0	0	0	0	0	10198	987	35	2		2	NBPF7	1	120387120	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	220592	120387120	128863501	239	16695										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144875979	144875979	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gattctcctctgaattacctGagggccagtggctcaagtcc	10	12	3	2	rs71664005	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:144875979G>C	ENST00000369354.3	-	29	4890	c.4701C>G	c.(4699-4701)ctC>ctG	p.L1567L	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.L1523L|PDE4DIP_ENST00000369356.4_Silent_p.L1567L|PDE4DIP_ENST00000369359.4_Silent_p.L1703L|PDE4DIP_ENST00000530740.1_Silent_p.L1703L|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1567	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATTACCTGAGGGCCAGTG	0.468			T	PDGFRB	MPD																																p.L1567L		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C4701G						PASS	.	G	,,	210,4196		0,210,1993	224	225	225		4569,4701,4701	4.2	1	1	dbSNP_130	225	1462,7130		0,1462,2834	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,1672,4827	CC,CG,GG		17.0158,4.7662,12.8635	,,	1523/2241,1567/2363,1567/2347	144875979	1672,11326	2203	4296	6499	SO:0001819	synonymous_variant	9659	exon29			TTACCTGAGGGCC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4701C>G	1.37:g.144875979G>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	172	64	0.372093	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			G|0.216;C|0.784	0.784	strong		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144875979	G	C	144875979	2	2	23	1	0	0	0	0	0	0	0	1	11643	1277	45	4		4	PDE4DIP	1	144875979	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24488859	144875979	104374642	240	16696										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144915624	144915624	+	Frame_Shift_Del	DEL	G	G	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtccaagtttgcagagcaGtgttgcactaagatcctaat					rs66512216|rs1778112	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:144915624delG	ENST00000369354.3	-	14	1990	c.1801delC	c.(1801-1803)ctgfs	p.L602fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L668fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L602fs|PDE4DIP_ENST00000529945.1_Frame_Shift_Del_p.L765fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.L765fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.L602fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.L739fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.L389fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L739fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.L602fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	602					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCAGAGCAGTGTTGCACTA	0.463			T	PDGFRB	MPD																																p.L764fs		Pindel,Atlas-Indel	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.2291delT						PASS	.		,,,,	205,4061		0,205,1928	117	102	107		,,,,	5.2	0.9	1	dbSNP_130	115	1400,6846		0,1400,2723	no	frameshift,frameshift,frameshift,frameshift,frameshift	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1	,,,,	0,1605,4651	A1A1,A1R,RR		16.9779,4.8054,12.8277	,,,,	,,,,	144915624	1605,10907	2203	4296	6499	SO:0001589	frameshift_variant	9659	exon10			.	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1801delC	1.37:g.144915624delG	ENSP00000358360:p.Leu602fs	Somatic	159	.	.		WXS	Illumina HiSeq	Phase_I	177	30	0.169	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	CCDS30824.1																																																																																			G|0.808;-|0.192	0.192	strong		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		-	144915624	G	-	144915624	7	5	23	1	0	1	0	1	0	0	0	0	11643	1020	36	0	5373	0	PDE4DIP	1	144915624	Frame_Shift_Del	DEL	G	TCGA-GR-7353-01A-11D-2210-10	39645	144915624	104334997	241	16697										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144921924	144921924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acattgtttggcatcagccaGttggcgctctttctgtcgta	10	10	3	0	rs71664015	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:144921924G>A	ENST00000369354.3	-	9	1294	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	PDE4DIP_ENST00000313382.9_Silent_p.L435L|PDE4DIP_ENST00000369356.4_Silent_p.L369L|PDE4DIP_ENST00000529945.1_Silent_p.L532L|PDE4DIP_ENST00000313431.9_Silent_p.L532L|PDE4DIP_ENST00000369351.3_Silent_p.L369L|PDE4DIP_ENST00000369359.4_Silent_p.L506L|PDE4DIP_ENST00000479408.2_Silent_p.L156L|PDE4DIP_ENST00000530740.1_Silent_p.L506L|PDE4DIP_ENST00000369349.3_Silent_p.L369L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	369					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCATCAGCCAGTTGGCGCTCT	0.463			T	PDGFRB	MPD																																p.L532L		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C1594T						PASS	.	G	,,,,	203,4203		0,203,2000	375	388	384		1594,1105,1303,1105,1105	5.8	1	1	dbSNP_130	384	1431,7161		0,1431,2865	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4DIP	NM_001002811.1,NM_001002812.1,NM_001198832.1,NM_001198834.2,NM_014644.4	,,,,	0,1634,4865	AA,AG,GG		16.655,4.6074,12.5712	,,,,	532/1133,369/970,435/2241,369/2363,369/2347	144921924	1634,11364	2203	4296	6499	SO:0001819	synonymous_variant	9659	exon5			CAGCCAGTTGGCG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1105C>T	1.37:g.144921924G>A		Somatic	382	1	0.0026178		WXS	Illumina HiSeq	Phase_I	412	119	0.288835	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			A|0.001;C|0.795	0.001	strong		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144921924	G	A	144921924	2	1	23	1	0	0	0	0	0	0	0	1	11643	1020	36	2		2	PDE4DIP	1	144921924	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6300	144921924	104328697	242	16698										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	144923729	144923729	+	Frame_Shift_Del	DEL	T	T	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggattttttcctggagTtctgccaagtgggaatcaga					rs3215779|rs369106087	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:144923729delT	ENST00000369354.3	-	6	918	c.729delA	c.(727-729)gaafs	p.E243fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E309fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E243fs|PDE4DIP_ENST00000529945.1_Frame_Shift_Del_p.E406fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.E406fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.E243fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.E380fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.E30fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E380fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.E243fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	243					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCCTGGAGTTCTGCCAAGT	0.448			T	PDGFRB	MPD								TT|TT|T|deletion	928	0.185304	0.0113	0.2205	5008	,	,		39069	0.3988		0.1799	False		,,,				2504	0.181				p.L407fs		Pindel,Atlas-Indel	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.1219delC						PASS	.						364	305	325					1																	144923729		2203	4300	6503	SO:0001589	frameshift_variant	9659	exon2			.	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.729delA	1.37:g.144923729delT	ENSP00000358360:p.Glu243fs	Somatic	468	.	.		WXS	Illumina HiSeq	Phase_I	612	94	0.154	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	CCDS30824.1																																																																																			.	.	weak		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		-	144923729	T	-	144923729	7	5	23	1	0	1	0	1	0	0	0	0	11643	1722	60	0	6477	0	PDE4DIP	1	144923729	Frame_Shift_Del	DEL	T	TCGA-GR-7353-01A-11D-2210-10	1805	144923729	104326892	243	16699										
ITGA10	8515	hgsc.bcm.edu	37	chr1	145533175	145533175	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagacgagttcccccctgcaTtgcagaaccatgcagcctac	8	15	0	2	rs11590105	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:145533175T>C	ENST00000369304.3	+	11	1445	c.1270T>C	c.(1270-1272)Ttg>Ctg	p.L424L	ITGA10_ENST00000539363.1_Silent_p.L281L|ITGA10_ENST00000538811.1_Silent_p.L293L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	424					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCCTGCATTGCAGAACCA	0.582													T|||	1001	0.19988	0.062	0.3458	5008	,	,		16859	0.1617		0.3559	False		,,,				2504	0.1616				p.L424L		Atlas-SNP	.											.	ITGA10	131	.	0			c.T1270C						PASS	.	T		500,3906	230.4+/-244.6	32,436,1735	48	43	45		1270	-5.7	0	1	dbSNP_120	45	3015,5585	463.6+/-366.0	549,1917,1834	no	coding-synonymous	ITGA10	NM_003637.3		581,2353,3569	CC,CT,TT		35.0581,11.3482,27.026		424/1168	145533175	3515,9491	2203	4300	6503	SO:0001819	synonymous_variant	8515	exon11			CCTGCATTGCAGA	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1270T>C	1.37:g.145533175T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	125	47	0.376	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																			T|0.762;C|0.238	0.238	strong		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		C	145533175	T	C	145533175	2	2	23	1	0	0	0	0	0	0	0	1	7873	1490	52	2		2	ITGA10	1	145533175	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	609446	145533175	103717446	244	16700										
ITGA10	8515	hgsc.bcm.edu	37	chr1	145536082	145536082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggccagaggttgtcccctcGgaggctccggctcagtgtgg	16	12	1	1	rs2274616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:145536082G>A	ENST00000369304.3	+	17	2349	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q	ITGA10_ENST00000539363.1_Missense_Mutation_p.R582Q|ITGA10_ENST00000538811.1_Missense_Mutation_p.R594Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	725			R -> Q (in dbSNP:rs2274616).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTCCCCTCGGAGGCTCCGG	0.557													G|||	582	0.116214	0.0961	0.1383	5008	,	,		19331	0.0704		0.1441	False		,,,				2504	0.1462				p.R725Q		Atlas-SNP	.											ITGA10,NS,carcinoma,-1,1	ITGA10	131	1	0			c.G2174A						PASS	.	G	GLN/ARG	483,3923	226.9+/-242.2	22,439,1742	102	95	97		2174	2.4	0.6	1	dbSNP_100	97	1383,7217	267.8+/-287.5	107,1169,3024	yes	missense	ITGA10	NM_003637.3	43	129,1608,4766	AA,AG,GG		16.0814,10.9623,14.3472	benign	725/1168	145536082	1866,11140	2203	4300	6503	SO:0001583	missense	8515	exon17			CCCCTCGGAGGCT	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2174G>A	1.37:g.145536082G>A	ENSP00000358310:p.Arg725Gln	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	304	191	0.628289	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	278	0.12728937728937728	61	0.12398373983739837	54	0.14917127071823205	45	0.07867132867132867	118	0.15567282321899736	G	12.04	1.817184	0.32145	0.109623	0.160814	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.44083	0.93;0.93;0.93	5.28	2.38	0.29361	Integrin alpha-2 (1);	0.391778	0.24136	N	0.041206	T	0.10809	0.0264	L	0.29908	0.895	0.80722	P	0.0	B;B;B;B	0.21381	0.05;0.05;0.049;0.055	B;B;B;B	0.18871	0.022;0.022;0.008;0.023	T	0.10086	-1.0645	9	0.40728	T	0.16	.	3.9803	0.09492	0.2552:0.0:0.5795:0.1653	rs2274616;rs52834043;rs57401273;rs2274616	691;594;582;725	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	725;691;582;594	ENSP00000358310:R725Q;ENSP00000439894:R582Q;ENSP00000440011:R594Q	ENSP00000358310:R725Q	R	+	2	0	ITGA10	144247439	0.316000	0.24580	0.586000	0.28679	0.821000	0.46438	0.539000	0.23175	0.361000	0.24292	-0.448000	0.05591	CGG	G|0.869;A|0.131	0.131	strong		0.557	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145536082	G	A	145536082	3	1	23	1	0	0	0	0	1	0	0	0	7873	1116	39	1	2240	1	ITGA10	1	145536082	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2907	145536082	103714539	245	16701										
ANKRD35	148741	hgsc.bcm.edu	37	chr1	145562087	145562087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaagggttcctggggctcGaggagagcctctaggggccc	17	10	1	1	rs41315701	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:145562087G>A	ENST00000355594.4	+	10	1862	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	592			R -> Q (in dbSNP:rs41315701).							NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGGGCTCGAGGAGAGCCT	0.582													G|||	619	0.123602	0.0129	0.111	5008	,	,		17919	0.1319		0.2117	False		,,,				2504	0.183				p.R592Q	Melanoma(9;127 754 22988 51047)	Atlas-SNP	.											.	ANKRD35	96	.	0			c.G1775A						PASS	.	G	GLN/ARG	231,4175		11,209,1983	37	49	45		1775	0.9	0	1	dbSNP_127	45	1959,6639		230,1499,2570	yes	missense	ANKRD35	NM_144698.3	43	241,1708,4553	AA,AG,GG		22.7844,5.2429,16.841	benign	592/1002	145562087	2190,10814	2203	4299	6502	SO:0001583	missense	148741	exon10			GGGCTCGAGGAGA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1775G>A	1.37:g.145562087G>A	ENSP00000347802:p.Arg592Gln	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	119	32	0.268908	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	316	0.1446886446886447	8	0.016260162601626018	44	0.12154696132596685	95	0.1660839160839161	169	0.22295514511873352	G	3.749	-0.052032	0.07362	0.052429	0.227844	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.44482	0.92	4.87	0.923	0.19413	.	0.734278	0.11613	N	0.546527	T	0.09024	0.0223	L	0.27053	0.805	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.29488	-1.0010	9	0.20046	T	0.44	-1.5743	4.2906	0.10876	0.2782:0.1674:0.5544:0.0	rs41315701	592	Q8N283	ANR35_HUMAN	Q	501;592	ENSP00000347802:R592Q	ENSP00000347802:R592Q	R	+	2	0	ANKRD35	144273444	0.002000	0.14202	0.000000	0.03702	0.073000	0.16967	1.200000	0.32247	0.014000	0.14944	0.655000	0.94253	CGA	G|0.837;A|0.163	0.163	strong		0.582	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145562087	G	A	145562087	3	1	23	1	0	0	0	0	1	0	0	0	664	1058	37	1	1813	1	ANKRD35	1	145562087	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26005	145562087	103688534	246	16702										
NBPF14	25832	hgsc.bcm.edu	37	chr1	148004783	148004783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttccacttccatcagcatgCtgttgagcctgcaaaaggag	9	12	1	1	rs147480284	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:148004783C>A	ENST00000369219.1	-	22	2547	c.2531G>T	c.(2530-2532)aGc>aTc	p.S844I				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	844	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S844I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATCAGCATGCTGTTGAGCCT	0.453													-|||	73	0.0145767	0.0008	0.0187	5008	,	,		15184	0.001		0.0537	False		,,,				2504	0.0041				p.S844I		Atlas-SNP	.											NBPF14,NS,adenoma,0,2	NBPF14	107	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2531T						scavenged	.	C	ILE/SER	84,3292		31,22,1635	72	122	108		2531	0.5	0	1	dbSNP_134	108	565,7627		134,297,3665	no	missense	NBPF14	NM_015383.1	142	165,319,5300	AA,AC,CC		6.897,2.4882,5.6103	possibly-damaging	844/922	148004783	649,10919	1688	4096	5784	SO:0001583	missense	25832	exon22			AGCATGCTGTTGA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2531G>T	1.37:g.148004783C>A	ENSP00000358221:p.Ser844Ile	Somatic	529	2	0.00378072		WXS	Illumina HiSeq	Phase_I	412	393	0.953883	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		61|61	0.027930402930402932|0.027930402930402932	1|1	0.0020325203252032522|0.0020325203252032522	6|6	0.016574585635359115|0.016574585635359115	0|0	0.0|0.0	54|54	0.0712401055408971|0.0712401055408971	c|c	9.996|9.996	1.232277|1.232277	0.22626|0.22626	0.024882|0.024882	0.06897|0.06897	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.06608	.|3.28	0.464|0.464	0.464|0.464	0.16706|0.16706	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.02571|0.02571	0.0078|0.0078	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.51653	.|0.228;0.947;0.858	.|B;P;P	.|0.54026	.|0.215;0.699;0.74	T|T	0.48068|0.48068	-0.9067|-0.9067	4|8	.|0.21014	.|T	.|0.42	.|.	.|.	.|.	.|.	.|.	.|192;825;844	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	S|I	850|844;192	.|ENSP00000358221:S844I	.|ENSP00000358221:S844I	A|S	-|-	1|2	0|0	NBPF14|NBPF14	146471407|146471407	0.009000|0.009000	0.17119|0.17119	0.004000|0.004000	0.12327|0.12327	0.011000|0.011000	0.07611|0.07611	0.685000|0.685000	0.25378|0.25378	0.550000|0.550000	0.28991|0.28991	0.388000|0.388000	0.25769|0.25769	GCA|AGC	C|0.960;A|0.040	0.040	strong		0.453	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		A	148004783	C	A	148004783	3	1	23	1	0	0	0	0	1	0	0	0	10194	797	28	4	238	4	NBPF14	1	148004783	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2442696	148004783	101245838	247	16703										
NBPF14	25832	hgsc.bcm.edu	37	chr1	148010987	148010987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaagacaacctgaaggagtTgaataacatctatccagtga	8	8	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:148010987T>C	ENST00000369219.1	-	14	1651	c.1635A>G	c.(1633-1635)tcA>tcG	p.S545S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	545	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S545S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTGAAGGAGTTGAATAACATC	0.478																																					p.S545S		Atlas-SNP	.											NBPF14,NS,carcinoma,0,3	NBPF14	107	3	1	Substitution - coding silent(1)	kidney(1)	c.A1635G						scavenged	.						2	2	2					1																	148010987		627	1514	2141	SO:0001819	synonymous_variant	25832	exon14			AGGAGTTGAATAA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1635A>G	1.37:g.148010987T>C		Somatic	783	8	0.0102171		WXS	Illumina HiSeq	Phase_I	1403	20	0.0142552	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.755	-0.771349	0.02951	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36480	-0.9746	2	.	.	.	.	.	.	.	.	.	.	.	R	551	.	.	Q	-	2	0	NBPF14	146477611	0.914000	0.31030	0.004000	0.12327	0.003000	0.03518	-0.265000	0.08644	-0.568000	0.06038	-0.564000	0.04169	CAA	.	.	none		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148010987	T	C	148010987	2	2	23	1	0	0	0	0	0	0	0	1	10194	1799	63	2		2	NBPF14	1	148010987	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6204	148010987	101239634	248	16704										
NBPF16	284565	hgsc.bcm.edu	37	chr1	148756664	148756664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacctggtgttccagatgGgagtcatattcccacaataa	8	11	1	1	rs587742217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:148756664G>T	ENST00000417839.1	+	16	2183	c.1993G>T	c.(1993-1995)Gga>Tga	p.G665*		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		665	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					GTTCCAGATGGGAGTCATATT	0.443													.|||	776	0.154952	0.1172	0.196	5008	,	,		11980	0.1181		0.2038	False		,,,				2504	0.1646				p.G665X		Atlas-SNP	.											NBPF16,NS,carcinoid-endocrine_tumour,0,1	NBPF16	7	1	0			c.G1993T						scavenged	.						7	7	7					1																	148756664		396	272	668	SO:0001587	stop_gained	728936	exon16			CAGATGGGAGTCA																												ENST00000417839.1:c.1993G>T	1.37:g.148756664G>T	ENSP00000395369:p.Gly665*	Somatic	196	21	0.107143		WXS	Illumina HiSeq	Phase_I	208	51	0.245192	NM_001102663	A8MPT6	Nonsense_Mutation	SNP	ENST00000417839.1	37	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	g	17.60	3.430299	0.62844	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	.	.	.	0.109	-0.218	0.13142	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	665	.	ENSP00000254372:G665X	G	+	1	0	NBPF16	147023288	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	0.720000	0.25896	-1.206000	0.02641	-1.207000	0.01640	GGA	.	.	none		0.443	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1			T	148756664	G	T	148756664	4	4	23	1	0	0	0	0	0	1	0	0	10196	1233	43	4	4124	4	NBPF16	1	148756664	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	745677	148756664	100493957	249	16705										
HIST2H2AB	317772	hgsc.bcm.edu	37	chr1	149859287	149859287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagctccagaatttccgcGgtcaggtactcgaggaccgc	12	14	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:149859287G>A	ENST00000331128.3	-	1	179	c.180C>T	c.(178-180)acC>acT	p.T60T	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	60						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)			GAATTTCCGCGGTCAGGTACT	0.662																																					p.T60T		Atlas-SNP	.											HIST2H2AB,NS,carcinoma,-1,1	HIST2H2AB	49	1	0			c.C180T						scavenged	.						50	53	52					1																	149859287		2203	4300	6503	SO:0001819	synonymous_variant	317772	exon1			TTCCGCGGTCAGG	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.180C>T	1.37:g.149859287G>A		Somatic	257	2	0.0077821		WXS	Illumina HiSeq	Phase_I	293	3	0.0102389	NM_175065		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																			.	.	none		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		A	149859287	G	A	149859287	2	1	23	1	0	0	0	0	0	0	0	1	7177	1103	39	1		1	HIST2H2AB	1	149859287	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1102623	149859287	99391334	250	16706										
SF3B4	10262	hgsc.bcm.edu	37	chr1	149895866	149895866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcgtggggatgtcctaaGccatgagggccatggtgtgc	16	10	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:149895866G>A	ENST00000271628.8	-	5	1538	c.954C>T	c.(952-954)ggC>ggT	p.G318G		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	318					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GATGTCCTAAGCCATGAGGGC	0.542																																					p.G318G		Atlas-SNP	.											.	SF3B4	37	.	0			c.C954T						PASS	.						12	13	13					1																	149895866		2197	4296	6493	SO:0001819	synonymous_variant	10262	exon5			TCCTAAGCCATGA	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.954C>T	1.37:g.149895866G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	120	31	0.258333	NM_005850	Q5SZ63	Silent	SNP	ENST00000271628.8	37	CCDS941.1																																																																																			.	.	none		0.542	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		A	149895866	G	A	149895866	2	1	23	1	0	0	0	0	0	0	0	1	14153	958	34	2		2	SF3B4	1	149895866	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36579	149895866	99354755	251	16707										
CA14	23632	hgsc.bcm.edu	37	chr1	150234657	150234657	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcagaaaggatccccaggGgggtcagaacaccagatcaa	13	10	3	3	rs34714364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:150234657G>T	ENST00000369111.4	+	4	1327	c.357G>T	c.(355-357)ggG>ggT	p.G119G	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	119					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	GATCCCCAGGGGGGTCAGAAC	0.552													G|||	270	0.0539137	0.0045	0.0764	5008	,	,		19443	0.0		0.1561	False		,,,				2504	0.0552				p.G119G		Atlas-SNP	.											.	CA14	37	.	0			c.G357T						PASS	.	G		150,4256	103.0+/-141.5	5,140,2058	88	89	89		357	2.1	0.5	1	dbSNP_126	89	1443,7157	275.3+/-291.7	130,1183,2987	no	coding-synonymous	CA14	NM_012113.1		135,1323,5045	TT,TG,GG		16.7791,3.4044,12.2482		119/338	150234657	1593,11413	2203	4300	6503	SO:0001819	synonymous_variant	23632	exon4			CCCAGGGGGGTCA	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.357G>T	1.37:g.150234657G>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	159	90	0.566038	NM_012113	Q5TB24|Q8NCF4	Silent	SNP	ENST00000369111.4	37	CCDS947.1																																																																																			G|0.897;T|0.103	0.103	strong		0.552	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		T	150234657	G	T	150234657	2	4	23	1	0	0	0	0	0	0	0	1	2515	1219	43	4		4	CA14	1	150234657	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	338791	150234657	99015964	252	16708										
ECM1	1893	hgsc.bcm.edu	37	chr1	150484987	150484987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatcttgaccattgacatcGgtcgagtcacccccaacctc	6	16	2	2	rs13294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:150484987G>A	ENST00000369047.4	+	8	1368	c.1243G>A	c.(1243-1245)Ggt>Agt	p.G415S	ECM1_ENST00000346569.6_Missense_Mutation_p.G290S|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.G442S	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	415			G -> S (in dbSNP:rs13294). {ECO:0000269|PubMed:12603844, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9367673}.		angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTGACATCGGTCGAGTCAC	0.572													A|||	1335	0.266573	0.1747	0.2709	5008	,	,		19087	0.2371		0.3827	False		,,,				2504	0.2986				p.G442S	Melanoma(156;1696 2560 11093 19685)	Atlas-SNP	.											.	ECM1	96	.	0			c.G1324A						PASS	.	A	SER/GLY,SER/GLY,SER/GLY	917,3489	739.0+/-411.0	107,703,1393	122	106	111		1324,1243,868	4.2	1	1	dbSNP_52	111	3534,5066	631.3+/-398.5	750,2034,1516	yes	missense,missense,missense	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	56,56,56	857,2737,2909	AA,AG,GG		41.093,20.8125,34.2227	benign,benign,benign	442/568,415/541,290/416	150484987	4451,8555	2203	4300	6503	SO:0001583	missense	1893	exon8			GACATCGGTCGAG	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1243G>A	1.37:g.150484987G>A	ENSP00000358043:p.Gly415Ser	Somatic	183	1	0.00546448		WXS	Illumina HiSeq	Phase_I	214	118	0.551402	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	621	0.28434065934065933	84	0.17073170731707318	116	0.32044198895027626	136	0.23776223776223776	285	0.3759894459102902	A	0.158	-1.083944	0.01888	0.208125	0.41093	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.72505	-0.66;-0.66;-0.66	4.17	4.17	0.49024	.	0.128269	0.49305	N	0.000143	T	0.11024	0.0269	N	0.00146	-1.995	0.37322	P	0.09041100000000002	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.10989	-1.0606	9	0.19590	T	0.45	-9.9071	6.5783	0.22579	0.8895:0.0:0.1105:0.0	rs13294;rs1050877;rs3170610;rs17357598;rs17650780;rs17856688;rs56766781;rs13294	442;290;415	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	S	442;415;290	ENSP00000358045:G442S;ENSP00000358043:G415S;ENSP00000271630:G290S	ENSP00000271630:G290S	G	+	1	0	ECM1	148751611	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	0.899000	0.28417	0.736000	0.32559	-0.521000	0.04368	GGT	A|0.317;C|0.005	0.317	strong		0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		A	150484987	G	A	150484987	3	1	23	1	0	0	0	0	1	0	0	0	4897	1116	39	1	1273	1	ECM1	1	150484987	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	250330	150484987	98765634	253	16709										
ADAMTSL4	54507	hgsc.bcm.edu	37	chr1	150526406	150526406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggggccgaggccagcagggCcaagggccttggggaacggg	21	11	0	0	rs6681639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:150526406C>T	ENST00000369038.2	+	4	1140	c.939C>T	c.(937-939)ggC>ggT	p.G313G	ADAMTSL4_ENST00000271643.4_Silent_p.G313G|ADAMTSL4_ENST00000369041.5_Silent_p.G313G|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.G313G|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	313					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCAGCAGGGCCAAGGGCCTT	0.716													C|||	1739	0.347244	0.5832	0.2666	5008	,	,		13904	0.3056		0.2853	False		,,,				2504	0.1922				p.G313G		Atlas-SNP	.											ADAMTSL4,NS,carcinoma,0,1	ADAMTSL4	101	1	0			c.C939T						PASS	.	C	,	2293,2099		603,1087,506	13	16	15		939,939	1.3	0.5	1	dbSNP_116	15	2315,6257		329,1657,2300	no	coding-synonymous,coding-synonymous	ADAMTSL4	NM_019032.4,NM_025008.3	,	932,2744,2806	TT,TC,CC		27.0065,47.7914,35.5446	,	313/1075,313/878	150526406	4608,8356	2196	4286	6482	SO:0001819	synonymous_variant	54507	exon6			GCAGGGCCAAGGG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.939C>T	1.37:g.150526406C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	137	84	0.613139	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	CCDS955.1																																																																																			C|0.647;T|0.353	0.353	strong		0.716	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		T	150526406	C	T	150526406	2	4	23	1	0	0	0	0	0	0	0	1	277	726	26	2		2	ADAMTSL4	1	150526406	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41419	150526406	98724215	254	16710										
CGN	57530	hgsc.bcm.edu	37	chr1	151491656	151491656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctggacagccgcctcccaCgggacacctttgaggaacgg	13	15	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:151491656C>T	ENST00000271636.7	+	2	794	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	215	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGCCTCCCACGGGACACCTT	0.622																																					p.R221W		Atlas-SNP	.											CGN,NS,carcinoma,0,1	CGN	106	1	0			c.C661T						scavenged	.						83	91	89					1																	151491656		2203	4299	6502	SO:0001583	missense	57530	exon2			CTCCCACGGGACA	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.661C>T	1.37:g.151491656C>T	ENSP00000271636:p.Arg221Trp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727612	0.69074	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.65178	0.8;-0.14	5.18	0.958	0.19619	.	0.492439	0.21593	N	0.072063	T	0.47021	0.1423	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.47470	0.548	T	0.50583	-0.8811	9	.	.	.	-19.8131	14.725	0.69339	0.6113:0.3887:0.0:0.0	.	215	Q9P2M7	CING_HUMAN	W	221	ENSP00000410836:R221W;ENSP00000271636:R221W	.	R	+	1	2	CGN	149758280	0.128000	0.22383	0.039000	0.18376	0.313000	0.28021	0.190000	0.17057	0.091000	0.17302	0.561000	0.74099	CGG	.	.	none		0.622	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151491656	C	T	151491656	3	4	23	1	0	0	0	0	1	0	0	0	3303	527	19	1	663	1	CGN	1	151491656	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	965250	151491656	97758965	255	16711										
TCHH	7062	hgsc.bcm.edu	37	chr1	152083806	152083806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttcagcagctgctggcgCctctcttcctccggctcctc	8	19	3	0	rs200947543	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152083806C>T	ENST00000368804.1	-	2	1886	c.1887G>A	c.(1885-1887)agG>agA	p.R629R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	629	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGGCGCCTCTCTTCCT	0.677													c|||	18	0.00359425	0.0008	0.0043	5008	,	,		15925	0.0		0.0129	False		,,,				2504	0.001				p.R629R		Atlas-SNP	.											.	TCHH	275	.	0			c.G1887A						PASS	.			8,3992		0,8,1992	34	40	38		1887	-0.7	0	1	dbSNP_134	38	85,8265		1,83,4091	no	coding-synonymous	TCHH	NM_007113.2		1,91,6083	TT,TC,CC		1.018,0.2,0.753		629/1944	152083806	93,12257	2000	4175	6175	SO:0001819	synonymous_variant	7062	exon3			CTGGCGCCTCTCT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1887G>A	1.37:g.152083806C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	206	127	0.616505	NM_007113	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																			C|0.993;T|0.007	0.007	strong		0.677	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152083806	C	T	152083806	2	4	23	1	0	0	0	0	0	0	0	1	15697	738	26	2		2	TCHH	1	152083806	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	592150	152083806	97166815	256	16712										
HRNR	388697	hgsc.bcm.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	11	10	1	6	rs145667921		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																					p.V1753A		Atlas-SNP	.											HRNR,NS,carcinoma,0,1	HRNR	403	1	0			c.T5258C						scavenged	.						1	1	1					1																	152188847		388	960	1348	SO:0001583	missense	388697	exon3			CCAAAGACAGAAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala	Somatic	1390	64	0.0460432		WXS	Illumina HiSeq	Phase_I	985	82	0.0832487	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	.	.	weak		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152188847	A	G	152188847	3	3	23	1	0	0	0	0	1	0	0	0	7359	275	10	2	3298	2	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	105041	152188847	97061774	257	16713										
HRNR	388697	hgsc.bcm.edu	37	chr1	152191082	152191082	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgtcggccacggctagggCtaggagactggccagatcca	14	12	0	2	rs139947063	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152191082C>G	ENST00000368801.2	-	3	3098	c.3023G>C	c.(3022-3024)aGc>aCc	p.S1008T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1008					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGGCTAGGGCTAGGAGACTG	0.597													C|||	5	0.000998403	0.0	0.0	5008	,	,		23723	0.0		0.003	False		,,,				2504	0.002				p.S1008T		Atlas-SNP	.											.	HRNR	403	.	0			c.G3023C						PASS	.						116	125	122					1																	152191082		2203	4298	6501	SO:0001583	missense	388697	exon3			CTAGGGCTAGGAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3023G>C	1.37:g.152191082C>G	ENSP00000357791:p.Ser1008Thr	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	229	100	0.436681	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.051238	0.19827	.	.	ENSG00000197915	ENST00000368801	T	0.01647	4.71	3.45	3.45	0.39498	.	.	.	.	.	T	0.00695	0.0023	N	0.19112	0.55	0.09310	N	1	D	0.53885	0.963	P	0.46825	0.528	T	0.53535	-0.8425	9	0.13108	T	0.6	.	10.7277	0.46079	0.0:1.0:0.0:0.0	.	1008	Q86YZ3	HORN_HUMAN	T	1008	ENSP00000357791:S1008T	ENSP00000357791:S1008T	S	-	2	0	HRNR	150457706	0.001000	0.12720	0.004000	0.12327	0.211000	0.24417	1.099000	0.31013	1.957000	0.56846	0.551000	0.68910	AGC	A|0.002;C|0.998;G|0.000	0.000	strong		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152191082	C	G	152191082	3	3	23	1	0	0	0	0	1	0	0	0	7359	797	28	4	5533	4	HRNR	1	152191082	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2235	152191082	97059539	258	16714										
HRNR	388697	hgsc.bcm.edu	37	chr1	152191225	152191225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactgtcctgacctagagccGtgttgttcgtagctggagga	14	9	0	2	rs147277587	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152191225G>A	ENST00000368801.2	-	3	2955	c.2880C>T	c.(2878-2880)caC>caT	p.H960H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	960					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTGTTCGT	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		24128	0.0		0.001	False		,,,				2504	0.001				p.H960H		Atlas-SNP	.											.	HRNR	403	.	0			c.C2880T						PASS	.	G		2,4404	4.2+/-10.8	0,2,2201	285	276	279		2880	-7.5	0	1	dbSNP_134	279	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	HRNR	NM_001009931.1		0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615		960/2851	152191225	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	388697	exon3			AGAGCCGTGTTGT	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2880C>T	1.37:g.152191225G>A		Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	367	148	0.40327	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			G|0.999;A|0.001	0.001	strong		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152191225	G	A	152191225	2	1	23	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152191225	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	143	152191225	97059396	259	16715										
HRNR	388697	hgsc.bcm.edu	37	chr1	152192395	152192395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagactcatatgggccacgGcttgaagacctccctgagcc	10	15	1	4	rs61814946	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152192395G>A	ENST00000368801.2	-	3	1785	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	570					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S570S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGCCACGGCTTGAAGACC	0.587													g|||	474	0.0946486	0.0045	0.0879	5008	,	,		20660	0.0942		0.1322	False		,,,				2504	0.183				p.S570S		Atlas-SNP	.											HRNR,NS,carcinoma,0,1	HRNR	403	1	1	Substitution - coding silent(1)	stomach(1)	c.C1710T						PASS	.	G		125,4281		0,125,2078	175	184	181		1710	-7.4	0	1	dbSNP_129	181	1267,7333		107,1053,3140	no	coding-synonymous	HRNR	NM_001009931.1		107,1178,5218	AA,AG,GG		14.7326,2.837,10.7028		570/2851	152192395	1392,11614	2203	4300	6503	SO:0001819	synonymous_variant	388697	exon3			GCCACGGCTTGAA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1710C>T	1.37:g.152192395G>A		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	332	116	0.349398	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			G|0.895;A|0.105	0.105	strong		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152192395	G	A	152192395	2	1	23	1	0	0	0	0	0	0	0	1	7359	1194	42	2		2	HRNR	1	152192395	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1170	152192395	97058226	260	16716										
FLG	2312	hgsc.bcm.edu	37	chr1	152276149	152276149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctcgtgcctgctcgtggCgggatccttgtcttcctcca	11	14	2	0	rs77422831	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276149C>T	ENST00000368799.1	-	3	11248	c.11213G>A	c.(11212-11214)cGc>cAc	p.R3738H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3738	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGTGGCGGGATCCTTG	0.607									Ichthyosis				C|||	1437	0.286941	0.0113	0.3919	5008	,	,		20123	0.5804		0.1421	False		,,,				2504	0.4315				p.R3738H		Atlas-SNP	.											.	FLG	900	.	0			c.G11213A						PASS	.	C	HIS/ARG	163,4243	109.1+/-147.4	2,159,2042	235	236	236		11213	-2.2	0	1	dbSNP_131	236	1240,7360	249.0+/-276.5	97,1046,3157	no	missense	FLG	NM_002016.1	29	99,1205,5199	TT,TC,CC		14.4186,3.6995,10.7873	possibly-damaging	3738/4062	152276149	1403,11603	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCGTGGCGGGATC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11213G>A	1.37:g.152276149C>T	ENSP00000357789:p.Arg3738His	Somatic	353	1	0.00283286		WXS	Illumina HiSeq	Phase_I	444	170	0.382883	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	568	0.2600732600732601	10	0.02032520325203252	117	0.32320441988950277	330	0.5769230769230769	111	0.14643799472295516	C	11.18	1.563264	0.27915	0.036995	0.144186	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.5	-2.2	0.06994	.	.	.	.	.	T	0.00210	0.0006	N	0.02751	-0.505	0.80722	P	0.0	P	0.41475	0.751	B	0.25987	0.065	T	0.42068	-0.9473	8	0.30854	T	0.27	.	4.1707	0.10327	0.0:0.343:0.2091:0.448	rs3126080	3738	P20930	FILA_HUMAN	H	3738	ENSP00000357789:R3738H	ENSP00000357789:R3738H	R	-	2	0	FLG	150542773	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.253000	0.01184	-0.570000	0.06022	-0.267000	0.10333	CGC	C|0.841;T|0.159	0.159	strong		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276149	C	T	152276149	3	4	23	1	0	0	0	0	1	0	0	0	5922	768	27	1	976	1	FLG	1	152276149	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	83754	152276149	96974472	261	16717			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276282	152276282	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaccggccacgtgtggactCttggtggctctgctgatggg	16	10	2	2	rs55707024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276282C>G	ENST00000368799.1	-	3	11115	c.11080G>C	c.(11080-11082)Gag>Cag	p.E3694Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3694	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E3694Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTGGACTCTTGGTGGCTC	0.587									Ichthyosis				C|||	911	0.181909	0.0772	0.232	5008	,	,		20697	0.3452		0.1004	False		,,,				2504	0.2035				p.E3694Q		Atlas-SNP	.											FLG,extremity,malignant_melanoma,0,1	FLG	900	1	1	Substitution - Missense(1)	skin(1)	c.G11080C						scavenged	.						50	56	54					1																	152276282		2202	4278	6480	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGACTCTTGGTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11080G>C	1.37:g.152276282C>G	ENSP00000357789:p.Glu3694Gln	Somatic	369	3	0.00813008		WXS	Illumina HiSeq	Phase_I	492	51	0.103659	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909632	0.17833	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.52	-3.46	0.04767	.	.	.	.	.	T	0.01454	0.0047	M	0.75447	2.3	0.09310	N	1	D	0.65815	0.995	P	0.61070	0.883	T	0.34254	-0.9836	9	0.20519	T	0.43	.	0.3502	0.00348	0.1921:0.291:0.2301:0.2868	rs55707024;rs58436539	3694	P20930	FILA_HUMAN	Q	3694	ENSP00000357789:E3694Q	ENSP00000357789:E3694Q	E	-	1	0	FLG	150542906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.189000	0.03061	-0.738000	0.04817	0.552000	0.68991	GAG	C|0.500;G|0.500	0.500	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276282	C	G	152276282	3	3	23	1	0	0	0	0	1	0	0	0	5922	922	32	4	1109	4	FLG	1	152276282	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133	152276282	96974339	262	16718			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276377	152276377	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcactgtcactggcctgaCtaccactggaccctcggtgt	9	16	2	1	rs139284720	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276377C>G	ENST00000368799.1	-	3	11020	c.10985G>C	c.(10984-10986)aGt>aCt	p.S3662T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3662	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3662T(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGCCTGACTACCACTGGA	0.587									Ichthyosis																												p.S3662T		Atlas-SNP	.											FLG,extremity,malignant_melanoma,0,2	FLG	900	2	2	Substitution - Missense(2)	skin(2)	c.G10985C						scavenged	.						34	36	35					1																	152276377		2199	4266	6465	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCCTGACTACCAC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10985G>C	1.37:g.152276377C>G	ENSP00000357789:p.Ser3662Thr	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	272	45	0.165441	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330609	0.24167	.	.	ENSG00000143631	ENST00000368799	T	0.20598	2.06	4.62	-2.36	0.06663	.	.	.	.	.	T	0.14874	0.0359	M	0.69823	2.125	0.09310	N	1	P	0.40211	0.707	P	0.54889	0.763	T	0.26883	-1.0090	9	0.25751	T	0.34	.	3.5688	0.07909	0.4266:0.3171:0.0:0.2564	.	3662	P20930	FILA_HUMAN	T	3662	ENSP00000357789:S3662T	ENSP00000357789:S3662T	S	-	2	0	FLG	150543001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.742000	0.04850	-0.547000	0.06207	-0.240000	0.12126	AGT	C|0.500;G|0.500	0.500	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276377	C	G	152276377	3	3	23	1	0	0	0	0	1	0	0	0	5922	565	20	4	1204	4	FLG	1	152276377	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	95	152276377	96974244	263	16719			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276626	152276626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgtcttcgtgatgggacGtggggtgtctggagccatct	15	9	4	1	rs3126075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276626G>C	ENST00000368799.1	-	3	10771	c.10736C>G	c.(10735-10737)aCg>aGg	p.T3579R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3579	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACGTGGGGTGTCT	0.567									Ichthyosis				C|||	2393	0.477835	0.6074	0.4395	5008	,	,		15943	0.6498		0.1561	False		,,,				2504	0.4836				p.T3579R		Atlas-SNP	.											FLG,colon,carcinoma,-1,1	FLG	900	1	0			c.C10736G						scavenged	.	C	ARG/THR	1117,3267		429,259,1504	128	213	184		10736	-2.5	0	1	dbSNP_103	184	149,8435		32,85,4175	no	missense	FLG	NM_002016.1	71	461,344,5679	CC,CG,GG		1.7358,25.479,9.7625	benign	3579/4062	152276626	1266,11702	2192	4292	6484	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGGACGTGGGGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10736C>G	1.37:g.152276626G>C	ENSP00000357789:p.Thr3579Arg	Somatic	483	3	0.00621118		WXS	Illumina HiSeq	Phase_I	413	46	0.11138	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	619	0.2834249084249084	182	0.3699186991869919	94	0.2596685082872928	272	0.4755244755244755	71	0.09366754617414248	C	1.750	-0.489390	0.04352	0.25479	0.017358	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.29	-2.52	0.06346	.	.	.	.	.	T	0.00178	0.0005	N	0.00538	-1.39	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.26189	-1.0110	9	0.12430	T	0.62	.	4.0484	0.09783	0.0:0.2359:0.3609:0.4032	rs3126075;rs12072880;rs60733655	3579	P20930	FILA_HUMAN	R	3579	ENSP00000357789:T3579R	ENSP00000357789:T3579R	T	-	2	0	FLG	150543250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.448000	0.00121	-0.991000	0.03476	-0.521000	0.04368	ACG	G|0.716;C|0.284	0.284	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276626	G	C	152276626	3	2	23	1	0	0	0	0	1	0	0	0	5922	1145	40	4	1453	4	FLG	1	152276626	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	249	152276626	96973995	264	16720			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276659	152276659	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccatctcttgactgctccTgagcagatccacgatggttt					rs7532285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276659T>C	ENST00000368799.1	-	3	10738	c.10703A>G	c.(10702-10704)cAg>cGg	p.Q3568R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCTGAGCAGATCC	0.567									Ichthyosis				t|||	1035	0.206669	0.2133	0.1916	5008	,	,		18266	0.3403		0.0696	False		,,,				2504	0.2117				p.Q3568R		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.A10703G						PASS	.						148	201	183					1																	152276659		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTCCTGAGCAG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10703A>G	1.37:g.152276659T>C	ENSP00000357789:p.Gln3568Arg	Somatic	398	0	0		WXS	Illumina HiSeq	Phase_I	376	29	0.0771277	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	3.885	-0.025135	0.07589	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	3.16	-6.33	0.01988	.	.	.	.	.	T	0.00210	0.0006	N	0.04508	-0.205	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.45948	-0.9226	9	0.15066	T	0.55	.	1.2756	0.02030	0.1435:0.216:0.1461:0.4945	rs7532285;rs56765845;rs7532285	3568	P20930	FILA_HUMAN	R	3568	ENSP00000357789:Q3568R	ENSP00000357789:Q3568R	Q	-	2	0	FLG	150543283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.180000	0.03088	-1.526000	0.01760	-1.734000	0.00692	CAG	T|0.993;C|0.007	0.007	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276659	T	C	152276659	3	2	23	1	0	0	0	0	1	0	0	0	5922	1580	55	3	1486	3	FLG	1	152276659	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	33	152276659	96973962	265	16721	361	2	1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276660	152276660	+	Missense_Mutation	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatctcttgactgctcctGagcagatccacgatggtttc					rs7540123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276660G>C	ENST00000368799.1	-	3	10737	c.10702C>G	c.(10702-10704)Cag>Gag	p.Q3568E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCTGAGCAGATCCA	0.572									Ichthyosis				G|||	1035	0.206669	0.2133	0.1916	5008	,	,		17873	0.3403		0.0696	False		,,,				2504	0.2117				p.Q3568E		Atlas-SNP	.											FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.C10702G						PASS	.						149	201	183					1																	152276660		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTCCTGAGCAGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10702C>G	1.37:g.152276660G>C	ENSP00000357789:p.Gln3568Glu	Somatic	395	0	0		WXS	Illumina HiSeq	Phase_I	375	31	0.0826667	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.450	-0.112146	0.06881	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.16	1.14	0.20703	.	.	.	.	.	T	0.00412	0.0013	L	0.44542	1.39	0.09310	N	1	P	0.41080	0.737	B	0.36504	0.226	T	0.32402	-0.9908	9	0.02654	T	1	.	3.1883	0.06608	0.1468:0.0:0.5899:0.2633	rs7540123;rs57866496;rs7540123	3568	P20930	FILA_HUMAN	E	3568	ENSP00000357789:Q3568E	ENSP00000357789:Q3568E	Q	-	1	0	FLG	150543284	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.365000	0.34182	0.608000	0.30000	0.398000	0.26397	CAG	G|0.995;C|0.005	0.005	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152276660	G	C	152276660	3	2	23	1	0	0	0	0	1	0	0	0	5922	1299	45	4	1487	4	FLG	1	152276660	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	152276660	96973961	266	16722	361	2	1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152276871	152276871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccatgagtgcctggagccAtctcctgattgttcgtcatt	10	11	2	2	rs3126066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152276871A>G	ENST00000368799.1	-	3	10526	c.10491T>C	c.(10489-10491)gaT>gaC	p.D3497D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3497	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCATCTCCTGATT	0.582									Ichthyosis				G|||	2239	0.447085	0.5204	0.4395	5008	,	,		19200	0.6448		0.1471	False		,,,				2504	0.4581				p.D3497D		Atlas-SNP	.											.	FLG	900	.	0			c.T10491C						PASS	.	G		2040,2366	609.3+/-391.3	470,1100,633	267	264	265		10491	-4.6	0	1	dbSNP_103	265	1276,7318	759.6+/-407.6	123,1030,3144	no	coding-synonymous	FLG	NM_002016.1		593,2130,3777	GG,GA,AA		14.8476,46.3005,25.5077		3497/4062	152276871	3316,9684	2203	4297	6500	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGAGCCATCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10491T>C	1.37:g.152276871A>G		Somatic	322	1	0.00310559		WXS	Illumina HiSeq	Phase_I	433	136	0.314088	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.703;G|0.297	0.297	strong		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276871	A	G	152276871	2	3	23	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152276871	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	211	152276871	96973750	267	16723			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152277055	152277055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgcttgaccccgggtgtCcacgaatggtgtcctgaccc	11	14	1	2	rs2065955	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152277055C>G	ENST00000368799.1	-	3	10342	c.10307G>C	c.(10306-10308)gGa>gCa	p.G3436A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3436	Ser-rich.		G -> A (in dbSNP:rs2065955).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.597									Ichthyosis				C|||	2575	0.514177	0.7882	0.4481	5008	,	,		18425	0.6349		0.1481	False		,,,				2504	0.4427				p.G3436A		Atlas-SNP	.											.	FLG	900	.	0			c.G10307C						PASS	.	C	ALA/GLY	3017,1389	686.4+/-404.7	1050,917,236	295	296	295		10307	-1.1	0	1	dbSNP_94	295	1294,7306	254.0+/-279.5	122,1050,3128	no	missense	FLG	NM_002016.1	60	1172,1967,3364	GG,GC,CC		15.0465,31.5252,33.1462	possibly-damaging	3436/4062	152277055	4311,8695	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGGTGTCCACGAA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10307G>C	1.37:g.152277055C>G	ENSP00000357789:p.Gly3436Ala	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	388	131	0.337629	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	949	0.43452380952380953	355	0.7215447154471545	137	0.3784530386740331	342	0.5979020979020979	115	0.1517150395778364	C	3.831	-0.035729	0.07497	0.684748	0.150465	ENSG00000143631	ENST00000368799	T	0.07114	3.22	3.31	-1.14	0.09741	.	.	.	.	.	T	0.04634	0.0126	L	0.57536	1.79	0.80722	P	0.0	P	0.46327	0.876	P	0.54312	0.748	T	0.23261	-1.0193	8	0.18710	T	0.47	-3.9699	3.0433	0.06145	0.1908:0.4576:0.0:0.3516	rs56734521	3436	P20930	FILA_HUMAN	A	3436	ENSP00000357789:G3436A	ENSP00000357789:G3436A	G	-	2	0	FLG	150543679	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.597000	0.05713	-0.563000	0.06078	-0.396000	0.06452	GGA	C|0.615;G|0.385	0.385	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152277055	C	G	152277055	3	3	23	1	0	0	0	0	1	0	0	0	5922	855	30	4	1882	4	FLG	1	152277055	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	184	152277055	96973566	268	16724			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152277184	152277184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcagactcagactgttcaTgagtgctcacctggtagagg	14	9	3	4	rs146234375	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152277184T>C	ENST00000368799.1	-	3	10213	c.10178A>G	c.(10177-10179)cAt>cGt	p.H3393R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3393	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGTTCATGAGTGCTCAC	0.622									Ichthyosis				T|||	2	0.000399361	0.0	0.0	5008	,	,		18980	0.0		0.001	False		,,,				2504	0.001				p.H3393R		Atlas-SNP	.											.	FLG	900	.	0			c.A10178G						PASS	.	T	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	186	214	205		10178	-0.1	0	1	dbSNP_134	205	6,8590	5.0+/-18.6	0,6,4292	no	missense	FLG	NM_002016.1	29	0,7,6494	CC,CT,TT		0.0698,0.0227,0.0538	probably-damaging	3393/4062	152277184	7,12995	2203	4298	6501	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGTTCATGAGTGC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10178A>G	1.37:g.152277184T>C	ENSP00000357789:p.His3393Arg	Somatic	352	0	0		WXS	Illumina HiSeq	Phase_I	415	119	0.286747	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	9.709	1.156448	0.21454	2.27E-4	6.98E-4	ENSG00000143631	ENST00000368799	T	0.00792	5.69	2.54	-0.0744	0.13731	.	.	.	.	.	T	0.00906	0.0030	M	0.81942	2.565	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.46133	-0.9213	9	0.13108	T	0.6	0.0059	3.1875	0.06606	0.0:0.144:0.2438:0.6122	.	3393	P20930	FILA_HUMAN	R	3393	ENSP00000357789:H3393R	ENSP00000357789:H3393R	H	-	2	0	FLG	150543808	0.004000	0.15560	0.001000	0.08648	0.011000	0.07611	0.165000	0.16564	-0.024000	0.13941	0.373000	0.22412	CAT	T|0.999;C|0.001	0.001	strong		0.622	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152277184	T	C	152277184	3	2	23	1	0	0	0	0	1	0	0	0	5922	1464	51	2	2011	2	FLG	1	152277184	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	129	152277184	96973437	269	16725			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152277822	152277822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggaagcttcatggtgacgTgacactgagtgcctggagct	15	8	1	3	rs3126069	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152277822T>C	ENST00000368799.1	-	3	9575	c.9540A>G	c.(9538-9540)tcA>tcG	p.S3180S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3180	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGTGACACTGAGT	0.557									Ichthyosis				C|||	1121	0.223842	0.0378	0.2709	5008	,	,		17239	0.4831		0.0944	False		,,,				2504	0.3078				p.S3180S		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.A9540G						scavenged	.						291	281	285					1																	152277822		2201	4293	6494	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTGACGTGACACT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9540A>G	1.37:g.152277822T>C		Somatic	479	0	0		WXS	Illumina HiSeq	Phase_I	442	22	0.0497738	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			T|0.777;C|0.223	0.223	strong		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152277822	T	C	152277822	2	2	23	1	0	0	0	0	0	0	0	1	5922	1683	59	2		2	FLG	1	152277822	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	638	152277822	96972799	270	16726			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152278555	152278555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgcccatgaccagctctgTcttcttgatgggacctgggg	13	11	3	2	rs80221306	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152278555T>C	ENST00000368799.1	-	3	8842	c.8807A>G	c.(8806-8808)gAc>gGc	p.D2936G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2936	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGCTCTGTCTTCTTGATG	0.552									Ichthyosis																												p.D2936G		Atlas-SNP	.											FLG,NS,haematopoietic_neoplasm,0,2	FLG	900	2	0			c.A8807G						scavenged	.	T	GLY/ASP	267,3373		3,261,1556	22	34	31		8807	1.3	0	1	dbSNP_131	31	809,7583		0,809,3387	no	missense	FLG	NM_002016.1	94	3,1070,4943	CC,CT,TT		9.6401,7.3352,8.9428	benign	2936/4062	152278555	1076,10956	1820	4196	6016	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCTCTGTCTTCTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8807A>G	1.37:g.152278555T>C	ENSP00000357789:p.Asp2936Gly	Somatic	843	9	0.0106762		WXS	Illumina HiSeq	Phase_I	1432	193	0.134777	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	7.089	0.571862	0.13623	0.073352	0.096401	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.29	1.29	0.21616	.	.	.	.	.	T	0.00815	0.0027	M	0.70595	2.14	0.80722	P	0.0	B	0.17852	0.024	B	0.10450	0.005	T	0.39375	-0.9617	8	0.22706	T	0.39	.	4.7721	0.13160	0.0:0.0:0.0:1.0	.	2936	P20930	FILA_HUMAN	G	2936	ENSP00000357789:D2936G	ENSP00000357789:D2936G	D	-	2	0	FLG	150545179	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.386000	0.07370	0.851000	0.35264	0.248000	0.18094	GAC	T|0.972;C|0.028	0.028	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152278555	T	C	152278555	3	2	23	1	0	0	0	0	1	0	0	0	5922	1667	58	2	3382	2	FLG	1	152278555	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	733	152278555	96972066	271	16727			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152279019	152279019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacgaatggtgtcctgaccGtcttgggatgctgagtgcct	13	11	1	2	rs57670307	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152279019G>A	ENST00000368799.1	-	3	8378	c.8343C>T	c.(8341-8343)gaC>gaT	p.D2781D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2781	Ser-rich.		D -> Y (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCGTCTTGGGATG	0.607									Ichthyosis																												p.D2781D		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.C8343T						scavenged	.	C		87,4307		0,87,2110	459	597	550		8343	-6.8	0	1	dbSNP_129	550	660,7940		0,660,3640	no	coding-synonymous	FLG	NM_002016.1		0,747,5750	AA,AG,GG		7.6744,1.98,5.7488		2781/4062	152279019	747,12247	2197	4300	6497	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGACCGTCTTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8343C>T	1.37:g.152279019G>A		Somatic	679	4	0.00589102		WXS	Illumina HiSeq	Phase_I	1422	244	0.171589	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			G|0.939;A|0.061	0.061	strong		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152279019	G	A	152279019	2	1	23	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152279019	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	464	152279019	96971602	272	16728			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152279729	152279729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcccacctgcgagtgtcCagagctgtcggcccgagagg	15	14	0	2	rs3126072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152279729C>T	ENST00000368799.1	-	3	7668	c.7633G>A	c.(7633-7635)Gga>Aga	p.G2545R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2545	Ser-rich.		G -> R (in dbSNP:rs3126072).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGAGTGTCCAGAGCTGTCG	0.577									Ichthyosis				T|||	2378	0.47484	0.5658	0.451	5008	,	,		19229	0.6548		0.173	False		,,,				2504	0.4939				p.G2545R		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.G7633A						scavenged	.	T	ARG/GLY	2198,2202	581.0+/-385.3	593,1012,595	204	228	220		7633	0.8	0	1	dbSNP_103	220	1457,7143	750.7+/-407.4	126,1205,2969	no	missense	FLG	NM_002016.1	125	719,2217,3564	TT,TC,CC		16.9419,49.9545,28.1154	benign	2545/4062	152279729	3655,9345	2200	4300	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGTGTCCAGAGCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7633G>A	1.37:g.152279729C>T	ENSP00000357789:p.Gly2545Arg	Somatic	295	2	0.00677966		WXS	Illumina HiSeq	Phase_I	401	151	0.376559	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	882	0.40384615384615385	256	0.5203252032520326	135	0.3729281767955801	358	0.6258741258741258	133	0.17546174142480211	T	2.868	-0.234541	0.05983	0.499545	0.169419	ENSG00000143631	ENST00000368799	T	0.01705	4.68	1.97	0.755	0.18415	.	.	.	.	.	T	0.00144	0.0004	N	0.00265	-1.74	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	8	0.14252	T	0.57	.	4.4439	0.11588	0.0:0.4317:0.0:0.5682	.	2545	P20930	FILA_HUMAN	R	2545	ENSP00000357789:G2545R	ENSP00000357789:G2545R	G	-	1	0	FLG	150546353	0.408000	0.25360	0.001000	0.08648	0.010000	0.07245	-0.243000	0.08915	-0.360000	0.08138	-0.848000	0.03037	GGA	C|0.682;T|0.318	0.318	strong		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279729	C	T	152279729	3	4	23	1	0	0	0	0	1	0	0	0	5922	603	21	2	4556	2	FLG	1	152279729	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	710	152279729	96970892	273	16729			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280170	152280170	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaccggccacgtgtggactCttggtggctctgctgatggg	16	10	2	2	rs71625201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280170C>G	ENST00000368799.1	-	3	7227	c.7192G>C	c.(7192-7194)Gag>Cag	p.E2398Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2398	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTGGACTCTTGGTGGCTC	0.587									Ichthyosis				C|||	1655	0.330471	0.1135	0.4092	5008	,	,		20923	0.5665		0.169	False		,,,				2504	0.4908				p.E2398Q		Atlas-SNP	.											.	FLG	900	.	0			c.G7192C						PASS	.	C	GLN/GLU	584,3820	250.6+/-257.6	42,500,1660	70	74	72		7192	-3.5	0	1	dbSNP_130	72	1418,7138	262.7+/-284.6	121,1176,2981	no	missense	FLG	NM_002016.1	29	163,1676,4641	GG,GC,CC		16.5732,13.2607,15.4475	benign	2398/4062	152280170	2002,10958	2202	4278	6480	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGACTCTTGGTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7192G>C	1.37:g.152280170C>G	ENSP00000357789:p.Glu2398Gln	Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	452	137	0.303097	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	602	0.27564102564102566	64	0.13008130081300814	116	0.32044198895027626	294	0.513986013986014	128	0.16886543535620052	C	10.08	1.253118	0.22965	0.132607	0.165732	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01787	4.64	3.76	-3.46	0.04767	.	.	.	.	.	T	0.00815	0.0027	M	0.78223	2.4	0.80722	P	0.0	B	0.20052	0.041	B	0.13407	0.009	T	0.39522	-0.9610	8	0.33141	T	0.24	.	4.314	0.10984	0.0:0.2844:0.322:0.3937	.	2398	P20930	FILA_HUMAN	Q	2398;308	ENSP00000357789:E2398Q	ENSP00000271820:E308Q	E	-	1	0	FLG	150546794	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.310000	0.02725	-0.408000	0.07565	-0.494000	0.04653	GAG	C|0.500;G|0.500	0.500	weak		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280170	C	G	152280170	3	3	23	1	0	0	0	0	1	0	0	0	5922	922	32	4	4997	4	FLG	1	152280170	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	441	152280170	96970451	274	16730			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280347	152280347	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgagtgtctggagctgtCtgctgactgctggtggtggg	18	8	2	2	rs139476473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280347C>T	ENST00000368799.1	-	3	7050	c.7015G>A	c.(7015-7017)Gac>Aac	p.D2339N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2339	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D2339N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTGCTGACTGC	0.557									Ichthyosis																												p.D2339N		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	1	Substitution - Missense(1)	stomach(1)	c.G7015A						scavenged	.	C	ASN/ASP	81,4309		0,81,2114	193	265	240		7015	4.1	0.1	1	dbSNP_134	240	282,8314		22,238,4038	no	missense	FLG	NM_002016.1	23	22,319,6152	TT,TC,CC		3.2806,1.8451,2.7953	probably-damaging	2339/4062	152280347	363,12623	2195	4298	6493	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGCTGTCTGCTGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7015G>A	1.37:g.152280347C>T	ENSP00000357789:p.Asp2339Asn	Somatic	217	1	0.00460829		WXS	Illumina HiSeq	Phase_I	295	45	0.152542	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	432	0.1978021978021978	6	0.012195121951219513	90	0.24861878453038674	245	0.42832167832167833	91	0.12005277044854881	C	13.82	2.350104	0.41599	0.018451	0.032806	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.08008	3.14	4.12	4.12	0.48240	.	.	.	.	.	T	0.14570	0.0352	M	0.62723	1.935	0.80722	P	0.0	D	0.69078	0.997	D	0.66196	0.942	T	0.00619	-1.1641	8	0.66056	D	0.02	.	12.0996	0.53776	0.0:1.0:0.0:0.0	.	2339	P20930	FILA_HUMAN	N	2339;249	ENSP00000357789:D2339N	ENSP00000271820:D249N	D	-	1	0	FLG	150546971	0.223000	0.23663	0.097000	0.21041	0.004000	0.04260	1.691000	0.37721	2.287000	0.76781	0.430000	0.28490	GAC	.	.	weak		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280347	C	T	152280347	3	4	23	1	0	0	0	0	1	0	0	0	5922	913	32	2	5174	2	FLG	1	152280347	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	177	152280347	96970274	275	16731			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280471	152280471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcctgattgtctggagctCtctgcagagtgcccatgacc	12	12	2	3	rs78179835		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280471C>G	ENST00000368799.1	-	3	6926	c.6891G>C	c.(6889-6891)gaG>gaC	p.E2297D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2297	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGGAGCTCTCTGCAGAGT	0.547									Ichthyosis																												p.E2297D		Atlas-SNP	.											.	FLG	900	.	0			c.G6891C						PASS	.	C	ASP/GLU	403,4003		10,383,1810	272	285	281		6891	-4	0	1	dbSNP_131	281	921,7679		0,921,3379	no	missense	FLG	NM_002016.1	45	10,1304,5189	GG,GC,CC		10.7093,9.1466,10.1799	benign	2297/4062	152280471	1324,11682	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGAGCTCTCTGCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6891G>C	1.37:g.152280471C>G	ENSP00000357789:p.Glu2297Asp	Somatic	615	0	0		WXS	Illumina HiSeq	Phase_I	974	246	0.252567	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.465	0.086112	0.08583	0.091466	0.107093	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.00760	5.73	3.12	-3.95	0.04118	.	.	.	.	.	T	0.00109	0.0003	N	0.03209	-0.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	8	0.02654	T	1	.	8.7493	0.34605	0.1106:0.6338:0.2556:0.0	.	2297	P20930	FILA_HUMAN	D	2297;207	ENSP00000357789:E2297D	ENSP00000271820:E207D	E	-	3	2	FLG	150547095	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.925000	0.03992	-0.492000	0.06687	-1.941000	0.00496	GAG	.	.	weak		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280471	C	G	152280471	3	3	23	1	0	0	0	0	1	0	0	0	5922	912	32	4	5298	4	FLG	1	152280471	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	124	152280471	96970150	276	16732			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280559	152280559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgctcctgagcagatccaTgatggtttctggacgcagac	11	11	1	4	rs150122015		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280559T>C	ENST00000368799.1	-	3	6838	c.6803A>G	c.(6802-6804)cAt>cGt	p.H2268R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2268	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGATCCATGATGGTTTCT	0.577									Ichthyosis																												p.H2268R		Atlas-SNP	.											.	FLG	900	.	0			c.A6803G						PASS	.						193	195	194					1																	152280559		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GATCCATGATGGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6803A>G	1.37:g.152280559T>C	ENSP00000357789:p.His2268Arg	Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	516	65	0.125969	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120247	0.08881	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03951	3.75	3.41	-3.72	0.04411	.	.	.	.	.	T	0.00906	0.0030	N	0.25426	0.745	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46652	-0.9176	9	0.35671	T	0.21	.	4.5351	0.12024	0.0:0.3477:0.2913:0.361	.	2268	P20930	FILA_HUMAN	R	2268;178	ENSP00000357789:H2268R	ENSP00000271820:H178R	H	-	2	0	FLG	150547183	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.010000	0.12743	-0.886000	0.03966	-0.665000	0.03846	CAT	.	.	weak		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152280559	T	C	152280559	3	2	23	1	0	0	0	0	1	0	0	0	5922	1464	51	2	5386	2	FLG	1	152280559	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	88	152280559	96970062	277	16733			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280614	152280614	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaatcttctgagtgtccctCactgtcactgtcctggctaa	8	12	4	2	rs3120645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280614C>G	ENST00000368799.1	-	3	6783	c.6748G>C	c.(6748-6750)Gag>Cag	p.E2250Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2250	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTCACTGTCACTG	0.592									Ichthyosis																												p.E2250Q		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,+2,1	FLG	900	1	0			c.G6748C						scavenged	.						203	203	203					1																	152280614		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCCCTCACTGTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6748G>C	1.37:g.152280614C>G	ENSP00000357789:p.Glu2250Gln	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	475	13	0.0273684	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459945	0.12342	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	3.75	0.494	0.16884	.	.	.	.	.	T	0.01454	0.0047	N	0.13043	0.29	0.09310	N	1	P	0.43542	0.81	B	0.39503	0.301	T	0.47100	-0.9143	9	0.30078	T	0.28	.	6.151	0.20313	0.1996:0.4103:0.3901:0.0	.	2250	P20930	FILA_HUMAN	Q	2250	ENSP00000357789:E2250Q	ENSP00000357789:E2250Q	E	-	1	0	FLG	150547238	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	-0.121000	0.10643	0.707000	0.31934	-0.447000	0.05616	GAG	C|0.996;G|0.003;T|0.001	0.003	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280614	C	G	152280614	3	3	23	1	0	0	0	0	1	0	0	0	5922	835	29	4	5441	4	FLG	1	152280614	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	55	152280614	96970007	278	16734			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280691	152280691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgattgtccctggcccaccAgtgagtgtctagagctgtcg	12	11	1	3	rs117945779	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280691A>T	ENST00000368799.1	-	3	6706	c.6671T>A	c.(6670-6672)cTg>cAg	p.L2224Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCCACCAGTGAGTGTCT	0.542									Ichthyosis				-|||	959	0.191494	0.1936	0.1873	5008	,	,		22319	0.3026		0.0706	False		,,,				2504	0.2014				p.L2224Q		Atlas-SNP	.											FLG,NS,malignant_melanoma,+1,1	FLG	900	1	0			c.T6671A						PASS	.						260	255	257					1																	152280691		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCACCAGTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6671T>A	1.37:g.152280691A>T	ENSP00000357789:p.Leu2224Gln	Somatic	367	0	0		WXS	Illumina HiSeq	Phase_I	640	36	0.05625	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	2.028	-0.423196	0.04734	.	.	ENSG00000143631	ENST00000368799	T	0.02656	4.21	0.883	-0.332	0.12675	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.08381	T	0.77	.	1.4068	0.02283	0.3248:0.2503:0.0:0.4249	.	2224	P20930	FILA_HUMAN	Q	2224	ENSP00000357789:L2224Q	ENSP00000357789:L2224Q	L	-	2	0	FLG	150547315	0.313000	0.24554	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-0.732000	0.04856	-0.721000	0.03606	CTG	.	.	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280691	A	T	152280691	3	4	23	1	0	0	0	0	1	0	0	0	5922	188	7	5	5518	5	FLG	1	152280691	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	77	152280691	96969930	279	16735			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280759	152280759	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccctgagtgcctagagccAtctcctgattgttccttgtc	9	13	1	3	rs2338554	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280759A>G	ENST00000368799.1	-	3	6638	c.6603T>C	c.(6601-6603)gaT>gaC	p.D2201D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2201	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTAGAGCCATCTCCTGATT	0.552									Ichthyosis				-|||	1839	0.367212	0.472	0.3501	5008	,	,		27298	0.4454		0.1531	False		,,,				2504	0.3773				p.D2201D		Atlas-SNP	.											FLG,NS,carcinoma,-2,2	FLG	900	2	0			c.T6603C						scavenged	.	G		1706,2700		229,1248,726	444	388	407		6603	-4.9	0	1	dbSNP_100	407	945,7655		0,945,3355	no	coding-synonymous	FLG	NM_002016.1		229,2193,4081	GG,GA,AA		10.9884,38.7199,20.3829		2201/4062	152280759	2651,10355	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGAGCCATCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6603T>C	1.37:g.152280759A>G		Somatic	349	2	0.00573066		WXS	Illumina HiSeq	Phase_I	641	104	0.162246	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.718;G|0.282	0.282	strong		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280759	A	G	152280759	2	3	23	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152280759	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	68	152280759	96969862	280	16736			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280864	152280864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgtggtgtggctgtgatgAgaccctgagtgtccagacct	15	8	0	4	rs2184954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280864A>G	ENST00000368799.1	-	3	6533	c.6498T>C	c.(6496-6498)tcT>tcC	p.S2166S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2166	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTGATGAGACCCTGAGT	0.557									Ichthyosis				-|||	2322	0.463658	0.5204	0.4524	5008	,	,		24600	0.6577		0.172	False		,,,				2504	0.4949				p.S2166S		Atlas-SNP	.											.	FLG	900	.	0			c.T6498C						PASS	.	G		2056,2350	607.5+/-391.0	471,1114,618	381	336	351		6498	-4.8	0	1	dbSNP_96	351	1453,7145	750.6+/-407.4	125,1203,2971	no	coding-synonymous	FLG	NM_002016.1		596,2317,3589	GG,GA,AA		16.8993,46.6636,26.984		2166/4062	152280864	3509,9495	2203	4299	6502	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTGATGAGACCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6498T>C	1.37:g.152280864A>G		Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	495	240	0.484848	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.	.	weak		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280864	A	G	152280864	2	3	23	1	0	0	0	0	0	0	0	1	5922	291	11	3		3	FLG	1	152280864	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	105	152280864	96969757	281	16737			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152280900	152280900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctatctaccgattgctcTtggtgggacccctgtcttcc	9	14	3	0	rs74129452	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152280900T>G	ENST00000368799.1	-	3	6497	c.6462A>C	c.(6460-6462)caA>caC	p.Q2154H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2154	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCTTGGTGGGACC	0.592									Ichthyosis				-|||	1722	0.34385	0.3843	0.3487	5008	,	,		25148	0.4444		0.1541	False		,,,				2504	0.3773				p.Q2154H		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,-2,1	FLG	900	1	0			c.A6462C						PASS	.						380	322	342					1																	152280900		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGCTCTTGGTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6462A>C	1.37:g.152280900T>G	ENSP00000357789:p.Gln2154His	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	561	143	0.254902	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.361	-0.346581	0.05208	.	.	ENSG00000143631	ENST00000368799	T	0.03524	3.9	2.59	-5.18	0.02840	.	.	.	.	.	T	0.00178	0.0005	N	0.00074	-2.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49943	-0.8885	9	0.38643	T	0.18	.	0.1659	0.00108	0.2732:0.2266:0.1592:0.341	.	2154	P20930	FILA_HUMAN	H	2154	ENSP00000357789:Q2154H	ENSP00000357789:Q2154H	Q	-	3	2	FLG	150547524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.334000	0.00508	-3.813000	0.00104	-2.053000	0.00404	CAA	T|0.872;G|0.128	0.128	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280900	T	G	152280900	3	3	23	1	0	0	0	0	1	0	0	0	5922	1606	56	5	5727	5	FLG	1	152280900	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	36	152280900	96969721	282	16738			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152281007	152281007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtcttgtgcctgatcatAatgggatccttgtcttcctc	9	11	3	1	rs7512553	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152281007A>G	ENST00000368799.1	-	3	6390	c.6355T>C	c.(6355-6357)Tat>Cat	p.Y2119H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2119	Ser-rich.		Y -> H (in dbSNP:rs7512553).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATCATAATGGGATCCT	0.572									Ichthyosis				-|||	1641	0.327676	0.3843	0.3357	5008	,	,		29956	0.4355		0.1282	False		,,,				2504	0.3395				p.Y2119H		Atlas-SNP	.											FLG,brain,glioma,+2,1	FLG	900	1	0			c.T6355C						scavenged	.	G	HIS/TYR	1451,2955		0,1451,752	349	263	292		6355	1.3	0	1	dbSNP_116	292	1089,7511		0,1089,3211	yes	missense	FLG	NM_002016.1	83	0,2540,3963	GG,GA,AA		12.6628,32.9324,19.5294	benign	2119/4062	152281007	2540,10466	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GATCATAATGGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6355T>C	1.37:g.152281007A>G	ENSP00000357789:p.Tyr2119His	Somatic	383	2	0.00522193		WXS	Illumina HiSeq	Phase_I	750	204	0.272	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.212	0.038141	0.08148	0.329324	0.126628	ENSG00000143631	ENST00000368799	T	0.02345	4.33	3.26	1.28	0.21552	.	.	.	.	.	T	0.00178	0.0005	N	0.00049	-2.42	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.14656	T	0.56	.	3.5172	0.07728	0.2299:0.0:0.5769:0.1931	.	2119	P20930	FILA_HUMAN	H	2119	ENSP00000357789:Y2119H	ENSP00000357789:Y2119H	Y	-	1	0	FLG	150547631	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.121000	0.15667	-0.057000	0.13199	-3.035000	0.00072	TAT	A|0.030;G|0.970	0.970	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152281007	A	G	152281007	3	3	23	1	0	0	0	0	1	0	0	0	5922	362	13	2	5834	2	FLG	1	152281007	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	107	152281007	96969614	283	16739			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152281690	152281690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgtctagagctgtcggccCgagaggaagcttcatggtga	15	8	2	3	rs12407748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152281690C>T	ENST00000368799.1	-	3	5707	c.5672G>A	c.(5671-5673)cGg>cAg	p.R1891Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1891	Ser-rich.		R -> Q (in dbSNP:rs12407748).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCGGCCCGAGAGGAAGC	0.567									Ichthyosis				C|||	1440	0.28754	0.0113	0.3905	5008	,	,		19138	0.5843		0.1421	False		,,,				2504	0.4315				p.R1891Q		Atlas-SNP	.											.	FLG	900	.	0			c.G5672A						PASS	.	C	GLN/ARG	162,4244	108.6+/-147.0	2,158,2043	272	275	274		5672	-3.6	0	1	dbSNP_120	274	1242,7358	249.3+/-276.6	97,1048,3155	no	missense	FLG	NM_002016.1	43	99,1206,5198	TT,TC,CC		14.4419,3.6768,10.795	possibly-damaging	1891/4062	152281690	1404,11602	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCGGCCCGAGAGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5672G>A	1.37:g.152281690C>T	ENSP00000357789:p.Arg1891Gln	Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	467	152	0.325482	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	549	0.25137362637362637	9	0.018292682926829267	114	0.3149171270718232	316	0.5524475524475524	110	0.14511873350923482	C	4.339	0.062313	0.08388	0.036768	0.144419	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03358	3.96	1.78	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	N	0.13235	0.315	0.80722	P	0.0	P	0.39250	0.665	B	0.33890	0.172	T	0.39272	-0.9622	8	0.08599	T	0.76	.	7.8311	0.29342	0.0:0.7145:0.0:0.2855	rs12407748;rs35359555;rs12407748	1891	P20930	FILA_HUMAN	Q	1891;126	ENSP00000357789:R1891Q	ENSP00000271820:R126Q	R	-	2	0	FLG	150548314	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.006000	0.00315	-1.013000	0.03383	-1.309000	0.01313	CGG	C|0.851;T|0.149	0.149	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281690	C	T	152281690	3	4	23	1	0	0	0	0	1	0	0	0	5922	652	23	1	6517	1	FLG	1	152281690	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	683	152281690	96968931	284	16740			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152281948	152281948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcctgaccctcttgggacGctgagtgcctggagctgtct	13	12	2	2	rs12405241	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152281948G>A	ENST00000368799.1	-	3	5449	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1805	Ser-rich.		A -> V (in dbSNP:rs12405241).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGCTGAGTGCCT	0.592									Ichthyosis				G|||	1440	0.28754	0.0113	0.3905	5008	,	,		20549	0.5843		0.1421	False		,,,				2504	0.4315				p.A1805V		Atlas-SNP	.											.	FLG	900	.	0			c.C5414T						PASS	.	G	VAL/ALA	161,4245	108.2+/-146.6	2,157,2044	311	321	317		5414	-3.6	0	1	dbSNP_120	317	1240,7356	248.9+/-276.4	97,1046,3155	no	missense	FLG	NM_002016.1	64	99,1203,5199	AA,AG,GG		14.4253,3.6541,10.7753	probably-damaging	1805/4062	152281948	1401,11601	2203	4298	6501	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGGACGCTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5414C>T	1.37:g.152281948G>A	ENSP00000357789:p.Ala1805Val	Somatic	299	1	0.00334448		WXS	Illumina HiSeq	Phase_I	424	154	0.363208	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	574	0.26282051282051283	9	0.018292682926829267	118	0.3259668508287293	335	0.5856643356643356	112	0.14775725593667546	G	9.606	1.130070	0.21041	0.036541	0.144253	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01821	4.62	2.68	-3.56	0.04626	.	.	.	.	.	T	0.01254	0.0041	L	0.49350	1.555	0.80722	P	0.0	D	0.76494	0.999	D	0.68621	0.959	T	0.36383	-0.9750	8	0.25106	T	0.35	.	0.7622	0.01009	0.3595:0.1924:0.2946:0.1534	rs12405241;rs57429267	1805	P20930	FILA_HUMAN	V	1805;40	ENSP00000357789:A1805V	ENSP00000271820:A40V	A	-	2	0	FLG	150548572	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.623000	0.00109	-0.903000	0.03881	-1.464000	0.01018	GCG	G|0.839;A|0.161	0.161	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152281948	G	A	152281948	3	1	23	1	0	0	0	0	1	0	0	0	5922	1087	38	1	6775	1	FLG	1	152281948	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	258	152281948	96968673	285	16741			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152282267	152282267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagatgaatcttgtctgcGcccagtgcctgagtctgtgg	12	10	3	3	rs12405278	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152282267G>A	ENST00000368799.1	-	3	5130	c.5095C>T	c.(5095-5097)Cgc>Tgc	p.R1699C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGTCTGCGCCCAGTGCCT	0.572									Ichthyosis				g|||	1441	0.28774	0.0121	0.3905	5008	,	,		20090	0.5843		0.1421	False		,,,				2504	0.4315				p.R1699C		Atlas-SNP	.											FLG,colon,carcinoma,+1,1	FLG	900	1	0			c.C5095T						PASS	.	C	CYS/ARG	161,4245	108.2+/-146.6	2,157,2044	256	259	258		5095	1.8	0	1	dbSNP_120	258	1240,7360	249.0+/-276.5	97,1046,3157	yes	missense	FLG	NM_002016.1	180	99,1203,5201	AA,AG,GG		14.4186,3.6541,10.772	probably-damaging	1699/4062	152282267	1401,11605	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCTGCGCCCAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5095C>T	1.37:g.152282267G>A	ENSP00000357789:p.Arg1699Cys	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	277	109	0.393502	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	573	0.2623626373626374	9	0.018292682926829267	118	0.3259668508287293	335	0.5856643356643356	111	0.14643799472295516	g	3.096	-0.185843	0.06340	0.036541	0.144186	ENSG00000143631	ENST00000368799	T	0.04275	3.66	2.69	1.76	0.24704	.	.	.	.	.	T	0.05823	0.0152	L	0.54323	1.7	0.80722	P	0.0	D	0.76494	0.999	D	0.63192	0.912	T	0.21484	-1.0244	8	0.54805	T	0.06	.	7.611	0.28131	0.0:0.2659:0.7341:0.0	rs56401605;rs58569216	1699	P20930	FILA_HUMAN	C	1699	ENSP00000357789:R1699C	ENSP00000357789:R1699C	R	-	1	0	FLG	150548891	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.137000	0.15995	0.482000	0.27582	-0.672000	0.03802	CGC	G|0.811;A|0.189	0.189	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152282267	G	A	152282267	3	1	23	1	0	0	0	0	1	0	0	0	5922	1087	38	1	7094	1	FLG	1	152282267	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	319	152282267	96968354	286	16742			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152282917	152282917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtgtcctgaccgtcttggGatgctgagtgcctagagctg	15	9	1	3	rs11204978	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152282917G>T	ENST00000368799.1	-	3	4480	c.4445C>A	c.(4444-4446)tCc>tAc	p.S1482Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1482	Ser-rich.		S -> Y (in dbSNP:rs11204978).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTCTTGGGATGCTGAGTG	0.572									Ichthyosis				G|||	1438	0.287141	0.0113	0.3905	5008	,	,		21395	0.5823		0.1421	False		,,,				2504	0.4315				p.S1482Y		Atlas-SNP	.											.	FLG	900	.	0			c.C4445A						PASS	.	G	TYR/SER	161,4245	108.2+/-146.6	2,157,2044	367	352	357		4445	0.7	0	1	dbSNP_120	357	1240,7360	249.0+/-276.5	97,1046,3157	no	missense	FLG	NM_002016.1	144	99,1203,5201	TT,TG,GG		14.4186,3.6541,10.772	possibly-damaging	1482/4062	152282917	1401,11605	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCTTGGGATGCTG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4445C>A	1.37:g.152282917G>T	ENSP00000357789:p.Ser1482Tyr	Somatic	359	1	0.00278552		WXS	Illumina HiSeq	Phase_I	449	148	0.329621	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	572	0.2619047619047619	9	0.018292682926829267	118	0.3259668508287293	333	0.5821678321678322	112	0.14775725593667546	G	8.364	0.833852	0.16820	0.036541	0.144186	ENSG00000143631	ENST00000368799	T	0.03801	3.8	2.75	0.67	0.17923	.	.	.	.	.	T	0.01800	0.0057	M	0.81682	2.555	0.80722	P	0.0	P	0.41978	0.767	B	0.40825	0.341	T	0.36890	-0.9729	8	0.02654	T	1	.	4.9552	0.14035	0.0:0.24:0.5137:0.2463	rs11204978;rs52811516;rs11204978	1482	P20930	FILA_HUMAN	Y	1482	ENSP00000357789:S1482Y	ENSP00000357789:S1482Y	S	-	2	0	FLG	150549541	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.247000	0.18179	0.192000	0.20272	0.556000	0.70494	TCC	G|0.836;T|0.164	0.164	strong		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152282917	G	T	152282917	3	4	23	1	0	0	0	0	1	0	0	0	5922	1174	41	4	7744	4	FLG	1	152282917	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	650	152282917	96967704	287	16743			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152283236	152283236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactgcagatgaagcttgtcTgtgcccaatgcctgagtgtc	12	10	1	3	rs11581433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152283236T>C	ENST00000368799.1	-	3	4161	c.4126A>G	c.(4126-4128)Aga>Gga	p.R1376G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1376	Ser-rich.		R -> G (in dbSNP:rs11581433).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCTTGTCTGTGCCCAATG	0.532									Ichthyosis				C|||	1718	0.343051	0.1218	0.4236	5008	,	,		21937	0.6062		0.171	False		,,,				2504	0.4908				p.R1376G		Atlas-SNP	.											FLG,NS,carcinoma,+1,1	FLG	900	1	0			c.A4126G						PASS	.	C	GLY/ARG	607,3799	768.9+/-413.6	43,521,1639	411	383	392		4126	-4.5	0	1	dbSNP_120	392	1436,7160	750.9+/-407.4	123,1190,2985	no	missense	FLG	NM_002016.1	125	166,1711,4624	CC,CT,TT		16.7054,13.7767,15.713	benign	1376/4062	152283236	2043,10959	2203	4298	6501	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTTGTCTGTGCCC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4126A>G	1.37:g.152283236T>C	ENSP00000357789:p.Arg1376Gly	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	195	67	0.34359	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	588	0.2692307692307692	51	0.10365853658536585	109	0.3011049723756906	317	0.5541958041958042	111	0.14643799472295516	C	6.987	0.552125	0.13374	0.137767	0.167054	ENSG00000143631	ENST00000368799	T	0.02032	4.49	4.29	-4.46	0.03536	.	.	.	.	.	T	0.00178	0.0005	N	0.00642	-1.3	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39663	-0.9603	8	0.02654	T	1	.	8.0818	0.30750	0.0:0.1976:0.1306:0.6718	rs11581433	1376	P20930	FILA_HUMAN	G	1376	ENSP00000357789:R1376G	ENSP00000357789:R1376G	R	-	1	2	FLG	150549860	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.374000	0.01072	-0.955000	0.03636	-0.949000	0.02662	AGA	T|0.807;C|0.193	0.193	strong		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283236	T	C	152283236	3	2	23	1	0	0	0	0	1	0	0	0	5922	1588	55	3	8063	3	FLG	1	152283236	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	319	152283236	96967385	288	16744			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152283862	152283862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccttgaccccgggtgtGcacgaatggtgtcctgaccc	11	15	1	2	rs58001094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152283862G>C	ENST00000368799.1	-	3	3535	c.3500C>G	c.(3499-3501)gCa>gGa	p.A1167G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1167	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTGCACGAATGGT	0.597									Ichthyosis				g|||	2675	0.534145	0.7806	0.4611	5008	,	,		20510	0.6577		0.1759	False		,,,				2504	0.4939				p.A1167G		Atlas-SNP	.											FLG,brain,glioma,0,1	FLG	900	1	0			c.C3500G						scavenged	.	C	GLY/ALA	2642,1764	599.0+/-389.2	734,1174,295	291	346	328		3500	-5.5	0	1	dbSNP_129	328	1392,7208	258.1+/-281.9	103,1186,3011	no	missense	FLG	NM_002016.1	60	837,2360,3306	CC,CG,GG		16.186,40.0363,31.0165	benign	1167/4062	152283862	4034,8972	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGGTGTGCACGAA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3500C>G	1.37:g.152283862G>C	ENSP00000357789:p.Ala1167Gly	Somatic	279	2	0.00716846		WXS	Illumina HiSeq	Phase_I	379	125	0.329815	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	814	0.3727106227106227	262	0.532520325203252	123	0.3397790055248619	315	0.5506993006993007	114	0.1503957783641161	g	3.006	-0.204867	0.06180	0.599637	0.16186	ENSG00000143631	ENST00000368799	T	0.03920	3.76	2.76	-5.53	0.02552	.	.	.	.	.	T	0.00271	0.0008	N	0.00049	-2.42	0.80722	P	0.0	B	0.14805	0.011	B	0.10450	0.005	T	0.48269	-0.9050	8	0.21540	T	0.41	.	10.7783	0.46363	0.0:0.1887:0.7027:0.1086	rs58001094	1167	P20930	FILA_HUMAN	G	1167	ENSP00000357789:A1167G	ENSP00000357789:A1167G	A	-	2	0	FLG	150550486	.	.	0.000000	0.03702	0.008000	0.06430	.	.	-1.865000	0.01147	-1.429000	0.01096	GCA	G|0.640;C|0.360	0.360	strong		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283862	G	C	152283862	3	2	23	1	0	0	0	0	1	0	0	0	5922	1319	46	4	8689	4	FLG	1	152283862	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	626	152283862	96966759	289	16745			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152284505	152284505	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagtcttctgaatgtccctCactgtcactgtcctggctaa	8	12	4	2	rs201137357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152284505C>G	ENST00000368799.1	-	3	2892	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	953	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTCCCTCACTGTCACTG	0.572									Ichthyosis				-|||	685	0.136781	0.3707	0.0576	5008	,	,		22374	0.0694		0.0258	False		,,,				2504	0.0603				p.E953Q		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.G2857C						scavenged	.	G	GLN/GLU	442,3964		4,434,1765	302	283	290		2857	2.1	0	1	dbSNP_134	290	5,8595		0,5,4295	no	missense	FLG	NM_002016.1	29	4,439,6060	GG,GC,CC		0.0581,10.0318,3.4369	probably-damaging	953/4062	152284505	447,12559	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCCCTCACTGTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2857G>C	1.37:g.152284505C>G	ENSP00000357789:p.Glu953Gln	Somatic	340	1	0.00294118		WXS	Illumina HiSeq	Phase_I	463	32	0.0691145	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.629	0.678402	0.14841	0.100318	5.81E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.08008	3.14	4.22	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.11724	0.165	0.09310	N	1	D	0.61697	0.99	P	0.61201	0.885	T	0.41770	-0.9490	9	0.25751	T	0.34	.	6.5814	0.22596	0.2048:0.5963:0.1989:0.0	.	953	P20930	FILA_HUMAN	Q	953;160	ENSP00000357789:E953Q	ENSP00000357789:E953Q	E	-	1	0	FLG	150551129	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	-0.312000	0.08113	0.743000	0.32719	0.473000	0.43528	GAG	.	.	weak		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284505	C	G	152284505	3	3	23	1	0	0	0	0	1	0	0	0	5922	835	29	4	9332	4	FLG	1	152284505	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	643	152284505	96966116	290	16746			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152284854	152284854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacgaatggtgtcctgaccAtcttgggatgctgagtgcct	12	11	1	2	rs3120653	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152284854A>G	ENST00000368799.1	-	3	2543	c.2508T>C	c.(2506-2508)gaT>gaC	p.D836D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCATCTTGGGATG	0.592									Ichthyosis				-|||	2370	0.473243	0.5567	0.4553	5008	,	,		20739	0.6558		0.173	False		,,,				2504	0.4939				p.D836D		Atlas-SNP	.											FLG,right_upper_lobe,carcinoma,-2,1	FLG	900	1	0			c.T2508C						PASS	.	C		2208,2198		542,1124,537	320	318	319		2508	-5.9	0	1	dbSNP_103	319	1462,7138		126,1210,2964	no	coding-synonymous	FLG	NM_002016.1		668,2334,3501	GG,GA,AA		17.0,49.8865,28.2177		836/4062	152284854	3670,9336	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGACCATCTTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2508T>C	1.37:g.152284854A>G		Somatic	360	1	0.00277778		WXS	Illumina HiSeq	Phase_I	449	147	0.327394	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			A|0.687;G|0.313	0.313	strong		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284854	A	G	152284854	2	3	23	1	0	0	0	0	0	0	0	1	5922	214	8	2		2	FLG	1	152284854	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	349	152284854	96965767	291	16747			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152285930	152285930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtccatgggcagagtcagGctgttcatgagtgctcacct	12	12	3	2	rs11584340	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152285930G>A	ENST00000368799.1	-	3	1467	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	478	Ser-rich.		P -> S (in dbSNP:rs11584340).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTCAGGCTGTTCATGA	0.612									Ichthyosis				-|||	1726	0.344649	0.1286	0.4222	5008	,	,		18652	0.6062		0.171	False		,,,				2504	0.4908				p.P478S		Atlas-SNP	.											.	FLG	900	.	0			c.C1432T	GRCh37	CM084968	FLG	M	rs11584340	PASS	.	A	SER/PRO	615,3791		44,527,1632	220	210	214		1432	-3.1	0	1	dbSNP_120	214	1444,7156		124,1196,2980	yes	missense	FLG	NM_002016.1	74	168,1723,4612	AA,AG,GG		16.7907,13.9582,15.8312	benign	478/4062	152285930	2059,10947	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGTCAGGCTGTTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1432C>T	1.37:g.152285930G>A	ENSP00000357789:p.Pro478Ser	Somatic	313	1	0.00319489		WXS	Illumina HiSeq	Phase_I	440	172	0.390909	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	684	0.3131868131868132	72	0.14634146341463414	125	0.3453038674033149	355	0.6206293706293706	132	0.1741424802110818	-	4.251	0.045625	0.08196	0.139582	0.167907	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00873	5.59	3.05	-3.12	0.05282	.	.	.	.	.	T	0.00073	0.0002	N	0.00260	-1.75	0.80722	P	0.0	B	0.17038	0.02	B	0.21360	0.034	T	0.30149	-0.9988	8	0.02654	T	1	.	3.0665	0.06217	0.3181:0.0:0.3425:0.3394	rs11584340;rs52819317;rs11584340	478	P20930	FILA_HUMAN	S	478;10	ENSP00000357789:P478S	ENSP00000357789:P478S	P	-	1	0	FLG	150552554	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.893000	0.01609	-1.350000	0.02199	-1.441000	0.01070	CCT	G|0.785;A|0.215	0.215	strong		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285930	G	A	152285930	3	1	23	1	0	0	0	0	1	0	0	0	5922	1203	42	2	10757	2	FLG	1	152285930	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1076	152285930	96964691	292	16748			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152286002	152286002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcccctgaccggccacgtgTggactcttggtggctctgct	12	14	2	1	rs386635459|rs2011331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152286002T>C	ENST00000368799.1	-	3	1395	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	454	Ser-rich.		T -> A (in dbSNP:rs2011331).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCACGTGTGGACTCTTGG	0.587									Ichthyosis				-|||	2324	0.464058	0.5204	0.4539	5008	,	,		18904	0.6587		0.173	False		,,,				2504	0.4939				p.T454A		Atlas-SNP	.											.	FLG	900	.	0			c.A1360G						PASS	.	C	ALA/THR	2058,2348		473,1112,618	201	196	198		1360	-6.9	0	1	dbSNP_92	198	1461,7139		126,1209,2965	no	missense	FLG	NM_002016.1	58	599,2321,3583	CC,CT,TT		16.9884,46.709,27.0567	benign	454/4062	152286002	3519,9487	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CACGTGTGGACTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1360A>G	1.37:g.152286002T>C	ENSP00000357789:p.Thr454Ala	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	466	170	0.364807	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	869	0.39789377289377287	240	0.4878048780487805	136	0.3756906077348066	360	0.6293706293706294	133	0.17546174142480211	-	3.629	-0.075933	0.07184	0.46709	0.169884	ENSG00000143631	ENST00000368799	T	0.02197	4.4	3.43	-6.86	0.01676	.	.	.	.	.	T	0.00210	0.0006	N	0.05230	-0.09	0.80722	P	0.0	B	0.19935	0.04	B	0.11329	0.006	T	0.48559	-0.9025	8	0.05620	T	0.96	.	0.0862	0.00036	0.2681:0.2448:0.199:0.2881	rs60352258	454	P20930	FILA_HUMAN	A	454	ENSP00000357789:T454A	ENSP00000357789:T454A	T	-	1	0	FLG	150552626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.855000	0.00729	-3.086000	0.00249	-1.512000	0.00943	ACA	T|0.667;C|0.333	0.333	strong		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152286002	T	C	152286002	3	2	23	1	0	0	0	0	1	0	0	0	5922	1696	59	2	10829	2	FLG	1	152286002	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	72	152286002	96964619	293	16749			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152286032	152286032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggctctgctgtctcagccCagcctttccgtggcctgaca	11	15	2	1	rs11588170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152286032C>T	ENST00000368799.1	-	3	1365	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	444	Ser-rich.		G -> R (in dbSNP:rs11588170).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTCAGCCCAGCCTTTCCG	0.582									Ichthyosis				-|||	1438	0.287141	0.0113	0.3905	5008	,	,		19918	0.5823		0.1421	False		,,,				2504	0.4315				p.G444R		Atlas-SNP	.											.	FLG	900	.	0			c.G1330A						PASS	.	C	ARG/GLY	161,4245		2,157,2044	201	196	198		1330	-0.6	0	1	dbSNP_120	198	1241,7359		97,1047,3156	yes	missense	FLG	NM_002016.1	125	99,1204,5200	TT,TC,CC		14.4302,3.6541,10.7796	probably-damaging	444/4062	152286032	1402,11604	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCAGCCCAGCCTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1330G>A	1.37:g.152286032C>T	ENSP00000357789:p.Gly444Arg	Somatic	288	0	0		WXS	Illumina HiSeq	Phase_I	364	134	0.368132	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	571	0.26144688644688646	9	0.018292682926829267	118	0.3259668508287293	333	0.5821678321678322	111	0.14643799472295516	-	9.564	1.119273	0.20877	0.036541	0.144302	ENSG00000143631	ENST00000368799	T	0.00768	5.72	2.5	-0.615	0.11587	.	.	.	.	.	T	0.00552	0.0018	L	0.53671	1.685	0.80722	P	0.0	P	0.51147	0.942	P	0.57244	0.816	T	0.48175	-0.9058	8	0.14252	T	0.57	.	3.0061	0.06028	0.0:0.467:0.2361:0.2968	rs11588170	444	P20930	FILA_HUMAN	R	444	ENSP00000357789:G444R	ENSP00000357789:G444R	G	-	1	0	FLG	150552656	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-0.107000	0.12088	-0.458000	0.05436	GGG	C|0.839;T|0.161	0.161	strong		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286032	C	T	152286032	3	4	23	1	0	0	0	0	1	0	0	0	5922	594	21	2	10859	2	FLG	1	152286032	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30	152286032	96964589	294	16750			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG	2312	hgsc.bcm.edu	37	chr1	152286367	152286367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggacctggggtgtctggagCcatctcttgactgctcccac	13	13	2	1	rs41267154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152286367C>A	ENST00000368799.1	-	3	1030	c.995G>T	c.(994-996)gGc>gTc	p.G332V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	332	Ser-rich.		G -> V (in dbSNP:rs41267154).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGAGCCATCTCTTGA	0.567									Ichthyosis				-|||	1706	0.340655	0.115	0.4193	5008	,	,		19207	0.6062		0.171	False		,,,				2504	0.4908				p.G332V		Atlas-SNP	.											.	FLG	900	.	0			c.G995T						PASS	.	C	VAL/GLY	582,3824		39,504,1660	195	196	196		995	1.2	0	1	dbSNP_127	196	1444,7156		124,1196,2980	no	missense	FLG	NM_002016.1	109	163,1700,4640	AA,AC,CC		16.7907,13.2093,15.5774	probably-damaging	332/4062	152286367	2026,10980	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGGAGCCATCTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.995G>T	1.37:g.152286367C>A	ENSP00000357789:p.Gly332Val	Somatic	383	1	0.00261097		WXS	Illumina HiSeq	Phase_I	538	180	0.334572	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	676	0.30952380952380953	64	0.13008130081300814	125	0.3453038674033149	355	0.6206293706293706	132	0.1741424802110818	-	9.095	1.002721	0.19121	0.132093	0.167907	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.14	1.2	0.21068	.	.	.	.	.	T	0.02571	0.0078	M	0.70595	2.14	0.80722	P	0.0	D	0.89917	1.0	D	0.81914	0.995	T	0.46247	-0.9205	8	0.33141	T	0.24	0.3437	5.3802	0.16187	0.0:0.7225:0.0:0.2775	rs41267154	332	P20930	FILA_HUMAN	V	332	ENSP00000357789:G332V	ENSP00000357789:G332V	G	-	2	0	FLG	150552991	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.020000	0.03618	0.200000	0.20447	0.400000	0.26472	GGC	C|0.793;A|0.207	0.207	strong		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152286367	C	A	152286367	3	1	23	1	0	0	0	0	1	0	0	0	5922	739	26	4	11194	4	FLG	1	152286367	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	335	152286367	96964254	295	16751			1	70		35	34	10219	N	T_G_C_A	8.770401e-32
FLG2	388698	hgsc.bcm.edu	37	chr1	152329369	152329369	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccaaatctatgtgactgaCaagaacttgaagcattttgt	7	8	1	4	rs2282302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:152329369C>G	ENST00000388718.5	-	3	965	c.893G>C	c.(892-894)tGt>tCt	p.C298S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	298	Ser-rich.		C -> S (in dbSNP:rs2282302).		establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTGACTGACAAGAACTTGA	0.463													C|||	684	0.136581	0.0061	0.2305	5008	,	,		23480	0.1875		0.2117	False		,,,				2504	0.1166				p.C298S		Atlas-SNP	.											.	FLG2	431	.	0			c.G893C						PASS	.	C	SER/CYS	184,4222	118.8+/-156.5	6,172,2025	207	194	198		893	2.4	1	1	dbSNP_100	198	1689,6911	309.3+/-309.3	167,1355,2778	yes	missense	FLG2	NM_001014342.2	112	173,1527,4803	GG,GC,CC		19.6395,4.1761,14.401	probably-damaging	298/2392	152329369	1873,11133	2203	4300	6503	SO:0001583	missense	388698	exon3			GACTGACAAGAAC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.893G>C	1.37:g.152329369C>G	ENSP00000373370:p.Cys298Ser	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	144	83	0.576389	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	361	0.1652930402930403	3	0.006097560975609756	84	0.23204419889502761	118	0.2062937062937063	156	0.20580474934036938	C	8.079	0.771974	0.16051	0.041761	0.196395	ENSG00000143520	ENST00000388718	T	0.00832	5.64	5.32	2.4	0.29515	.	.	.	.	.	T	0.00468	0.0015	L	0.44542	1.39	0.39373	P	0.033887	D	0.54207	0.965	P	0.51016	0.656	T	0.31194	-0.9952	8	0.05525	T	0.97	-8.9525	7.6768	0.28490	0.0:0.73:0.0:0.27	rs2282302;rs56511827;rs2282302	298	Q5D862	FILA2_HUMAN	S	298	ENSP00000373370:C298S	ENSP00000373370:C298S	C	-	2	0	FLG2	150595993	0.974000	0.33945	0.998000	0.56505	0.134000	0.20937	-0.065000	0.11617	0.319000	0.23209	0.557000	0.71058	TGT	C|0.848;G|0.152	0.152	strong		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152329369	C	G	152329369	3	3	23	1	0	0	0	0	1	0	0	0	5923	478	17	4	6286	4	FLG2	1	152329369	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43002	152329369	96921252	296	16752										
LOR	4014	hgsc.bcm.edu	37	chr1	153234295	153234295	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctccgtgggtggctccggGagtggcaagggcgtcccgat	17	12	0	0	rs12043009	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:153234295G>A	ENST00000368742.3	+	2	927	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	290					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGCTCCGGGAGTGGCAAGG	0.692													G|||	973	0.194289	0.3828	0.1542	5008	,	,		9988	0.0685		0.2326	False		,,,				2504	0.0583				p.G290G		Atlas-SNP	.											.	LOR	19	.	0			c.G870A						PASS	.	G		953,2271		129,695,788	6	8	7		870	-1.5	0	1	dbSNP_120	7	1211,5851		114,983,2434	no	coding-synonymous	LOR	NM_000427.2		243,1678,3222	AA,AG,GG		17.1481,29.5596,21.0383		290/313	153234295	2164,8122	1612	3531	5143	SO:0001819	synonymous_variant	4014	exon2			CTCCGGGAGTGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.870G>A	1.37:g.153234295G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	74	25	0.337838	NM_000427	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1	490	0.22435897435897437	195	0.39634146341463417	66	0.18232044198895028	47	0.08216783216783216	182	0.24010554089709762	G	8.025	0.760514	0.15914	0.295596	0.171481	ENSG00000203782	ENST00000392652	.	.	.	4.24	-1.45	0.08828	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.43613	P	0.0040120000000000156	.	.	.	.	.	.	T	0.25710	-1.0124	4	0.87932	D	0	1.8651	4.3283	0.11051	0.3272:0.3631:0.3097:0.0	rs12043009;rs12043009	.	.	.	K	290	.	ENSP00000376422:E290K	E	+	1	0	LOR	151500919	0.019000	0.18553	0.010000	0.14722	0.844000	0.47949	-0.788000	0.04614	-0.548000	0.06199	0.563000	0.77884	GAG	G|0.777;A|0.223	0.223	strong		0.692	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		A	153234295	G	A	153234295	2	1	23	1	0	0	0	0	0	0	0	1	8897	1161	41	2		2	LOR	1	153234295	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	904926	153234295	96016326	297	16753										
INTS3	65123	hgsc.bcm.edu	37	chr1	153736314	153736314	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctgtcctgcagtgatacGgaggcccagtgtgaggtcat	13	9	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:153736314G>T	ENST00000318967.2	+	17	2341	c.1773G>T	c.(1771-1773)acG>acT	p.T591T	INTS3_ENST00000512605.1_Silent_p.T385T|INTS3_ENST00000456435.1_Silent_p.T385T|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.T591T	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	592					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGTGATACGGAGGCCCAGT	0.537																																					p.T591T		Atlas-SNP	.											INTS3,NS,carcinoma,+1,1	INTS3	83	1	0			c.G1773T						scavenged	.						124	102	109					1																	153736314		2203	4300	6503	SO:0001819	synonymous_variant	65123	exon17			TGATACGGAGGCC	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1773G>T	1.37:g.153736314G>T		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	316	4	0.0126582	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	CCDS1052.1																																																																																			.	.	none		0.537	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		T	153736314	G	T	153736314	2	4	23	1	0	0	0	0	0	0	0	1	7779	1103	39	4		4	INTS3	1	153736314	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	502019	153736314	95514307	298	16754										
C1orf43	25912	hgsc.bcm.edu	37	chr1	154184993	154184993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtatcaatgagtgctttgcGtacacccttgaaaggcgtac	11	9	1	2	rs144385115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154184993G>A	ENST00000368521.5	-	5	646	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	C1orf43_ENST00000350592.3_Missense_Mutation_p.R116C|C1orf43_ENST00000368519.1_Missense_Mutation_p.R132C|C1orf43_ENST00000368516.1_Missense_Mutation_p.R116C|C1orf43_ENST00000362076.4_Missense_Mutation_p.R98C|C1orf43_ENST00000368518.1_Missense_Mutation_p.R150C	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	150						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					AGTGCTTTGCGTACACCCTTG	0.498													G|||	22	0.00439297	0.0008	0.0101	5008	,	,		19963	0.0		0.0119	False		,,,				2504	0.002				p.R150C		Atlas-SNP	.											.	C1orf43	36	.	0			c.C448T						PASS	.	G	CYS/ARG,CYS/ARG,CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	90	82	85		448,346,292	3.5	1	1	dbSNP_134	85	70,8530	41.7+/-99.0	0,70,4230	yes	missense,missense,missense	C1orf43	NM_001098616.1,NM_015449.2,NM_138740.2	180,180,180	0,76,6427	AA,AG,GG		0.814,0.1362,0.5843	benign,benign,benign	150/254,116/220,98/202	154184993	76,12930	2203	4300	6503	SO:0001583	missense	25912	exon5			CTTTGCGTACACC	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.448C>T	1.37:g.154184993G>A	ENSP00000357507:p.Arg150Cys	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	156	84	0.538462	NM_001098616	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	CCDS41404.1	16	0.007326007326007326	0	0.0	5	0.013812154696132596	0	0.0	11	0.014511873350923483	G	15.45	2.837975	0.50951	0.001362	0.00814	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	Dehydrogenase, multihelical (1);	0.150760	0.64402	D	0.000008	T	0.32466	0.0830	L	0.58101	1.795	0.53005	D	0.999961	B;B;B;B;B	0.14012	0.007;0.007;0.004;0.003;0.009	B;B;B;B;B	0.14023	0.002;0.002;0.01;0.002;0.003	T	0.31503	-0.9941	9	0.54805	T	0.06	-17.9839	5.6172	0.17438	0.0749:0.1395:0.6412:0.1444	.	132;116;150;98;116	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	C	116;150;98;132;150;116	.	ENSP00000271925:R116C	R	-	1	0	C1orf43	152451617	1.000000	0.71417	0.998000	0.56505	0.792000	0.44763	4.784000	0.62411	0.821000	0.34540	0.585000	0.79938	CGC	G|0.994;A|0.006	0.006	strong		0.498	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		A	154184993	G	A	154184993	3	1	23	1	0	0	0	0	1	0	0	0	2040	1145	40	1	325	1	C1orf43	1	154184993	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	448679	154184993	95065628	299	16755										
AQP10	89872	hgsc.bcm.edu	37	chr1	154296076	154296076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactccaaggttctgggcacTgggatgctgattgtggggct	16	8	1	1	rs1194610	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154296076T>C	ENST00000324978.3	+	5	541	c.501T>C	c.(499-501)acT>acC	p.T167T	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Silent_p.T167T|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	167					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T167T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCTGGGCACTGGGATGCTGA	0.592													C|||	1378	0.27516	0.503	0.268	5008	,	,		19284	0.1488		0.2306	False		,,,				2504	0.1483				p.T167T		Atlas-SNP	.											AQP10,NS,carcinoma,0,1	AQP10	44	1	1	Substitution - coding silent(1)	stomach(1)	c.T501C						PASS	.	C		2126,2280	599.9+/-389.4	491,1144,568	126	135	132		501	-7.1	0	1	dbSNP_87	132	2004,6596	722.3+/-406.4	230,1544,2526	no	coding-synonymous	AQP10	NM_080429.2		721,2688,3094	CC,CT,TT		23.3023,48.2524,31.7546		167/302	154296076	4130,8876	2203	4300	6503	SO:0001819	synonymous_variant	89872	exon5			GGGCACTGGGATG	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.501T>C	1.37:g.154296076T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	191	190	0.994764	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	CCDS1065.1																																																																																			T|0.702;C|0.298	0.298	strong		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		C	154296076	T	C	154296076	2	2	23	1	0	0	0	0	0	0	0	1	822	1567	55	3		3	AQP10	1	154296076	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	111083	154296076	94954545	300	16756										
ATP8B2	57198	hgsc.bcm.edu	37	chr1	154316434	154316434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatctggatgaagagtactaCgaggagtgggctgagcgacg	17	6	1	3	rs2274988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154316434C>T	ENST00000368489.3	+	18	1923	c.1923C>T	c.(1921-1923)taC>taT	p.Y641Y		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	627					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)			AAGAGTACTACGAGGAGTGGG	0.602													C|||	983	0.196286	0.2549	0.1657	5008	,	,		18937	0.125		0.2525	False		,,,				2504	0.1544				p.Y641Y		Atlas-SNP	.											ATP8B2,colon,carcinoma,0,1	ATP8B2	158	1	0			c.C1923T						PASS	.	C		987,3419	363.6+/-316.6	118,751,1334	46	47	47		1923	-2.8	0	1	dbSNP_100	47	2129,6471	358.9+/-331.3	282,1565,2453	no	coding-synonymous	ATP8B2	NM_020452.3		400,2316,3787	TT,TC,CC		24.7558,22.4013,23.9582		641/1224	154316434	3116,9890	2203	4300	6503	SO:0001819	synonymous_variant	57198	exon18			GTACTACGAGGAG	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.1923C>T	1.37:g.154316434C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	CCDS1066.1																																																																																			C|0.774;T|0.226	0.226	strong		0.602	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		T	154316434	C	T	154316434	2	4	23	1	0	0	0	0	0	0	0	1	1195	547	19	1		1	ATP8B2	1	154316434	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20358	154316434	94934187	301	16757										
TDRD10	126668	hgsc.bcm.edu	37	chr1	154516578	154516578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtttttctgggctatgcacGtcactgaggtatggactggt	13	8	2	1	rs3811448	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154516578G>A	ENST00000368480.3	+	9	728	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	TDRD10_ENST00000368482.4_Missense_Mutation_p.V215I|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	215	Tudor.		V -> I (in dbSNP:rs3811448). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.				nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTATGCACGTCACTGAGGT	0.637													A|||	907	0.18111	0.1384	0.1455	5008	,	,		19371	0.1706		0.2256	False		,,,				2504	0.229				p.V215I		Atlas-SNP	.											.	TDRD10	48	.	0			c.G643A						PASS	.	A	ILE/VAL,ILE/VAL	605,3801	769.5+/-413.7	30,545,1628	123	90	101		643,643	-6.9	0	1	dbSNP_107	101	1695,6905	738.2+/-407.0	171,1353,2776	yes	missense,missense	TDRD10	NM_001098475.1,NM_182499.3	29,29	201,1898,4404	AA,AG,GG		19.7093,13.7313,17.6841	benign,benign	215/367,215/352	154516578	2300,10706	2203	4300	6503	SO:0001583	missense	126668	exon9			ATGCACGTCACTG	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.643G>A	1.37:g.154516578G>A	ENSP00000357465:p.Val215Ile	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	188	188	1	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	392	0.1794871794871795	70	0.14227642276422764	65	0.17955801104972377	82	0.14335664335664336	175	0.23087071240105542	A	0.789	-0.759617	0.03019	0.137313	0.197093	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.10099	2.91;2.91	3.46	-6.93	0.01638	Maternal tudor protein (1);	1.376610	0.05645	N	0.584115	T	0.00695	0.0023	N	0.04508	-0.205	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.40117	-0.9580	9	0.02654	T	1	-4.3245	4.8941	0.13742	0.1922:0.1396:0.5422:0.126	rs3811448;rs60656176;rs3811448	215;215	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	I	215	ENSP00000357467:V215I;ENSP00000357465:V215I	ENSP00000357465:V215I	V	+	1	0	TDRD10	152783202	0.000000	0.05858	0.004000	0.12327	0.753000	0.42808	-1.526000	0.02229	-2.265000	0.00688	-0.381000	0.06696	GTC	G|0.821;A|0.179	0.179	strong		0.637	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		A	154516578	G	A	154516578	3	1	23	1	0	0	0	0	1	0	0	0	15728	1145	40	1	673	1	TDRD10	1	154516578	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	200144	154516578	94734043	302	16758										
PMVK	10654	hgsc.bcm.edu	37	chr1	154904840	154904840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacctacctgagcatactgTtccttgagtggaccagagag	10	12	0	3	rs1891805	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154904840T>C	ENST00000368467.3	-	2	452	c.147A>G	c.(145-147)gaA>gaG	p.E49E		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	49					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCATACTGTTCCTTGAGTG	0.577													C|||	1036	0.206869	0.6407	0.0836	5008	,	,		17611	0.0		0.0636	False		,,,				2504	0.0685				p.E49E		Atlas-SNP	.											.	PMVK	17	.	0			c.A147G						PASS	.	C		2511,1895	543.3+/-376.2	746,1019,438	107	94	99		147	0.6	1	1	dbSNP_92	99	555,8045	793.4+/-407.5	12,531,3757	no	coding-synonymous	PMVK	NM_006556.3		758,1550,4195	CC,CT,TT		6.4535,43.0095,23.5737		49/193	154904840	3066,9940	2203	4300	6503	SO:0001819	synonymous_variant	10654	exon2			ATACTGTTCCTTG	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.147A>G	1.37:g.154904840T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	238	151	0.634454	NM_006556	Q5TZW9	Silent	SNP	ENST00000368467.3	37	CCDS1073.1																																																																																			T|0.769;C|0.231	0.231	strong		0.577	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		C	154904840	T	C	154904840	2	2	23	1	0	0	0	0	0	0	0	1	12144	1722	60	2		2	PMVK	1	154904840	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	388262	154904840	94345781	303	16759										
SHC1	6464	hgsc.bcm.edu	37	chr1	154938235	154938235	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactggggaggtggaggcacGcgaagagcatcttcgaaggg	19	7	1	1	rs1131397	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154938235G>C	ENST00000368445.5	-	11	1621	c.1407C>G	c.(1405-1407)cgC>cgG	p.R469R	SHC1_ENST00000448116.2_Silent_p.R470R|SHC1_ENST00000368453.4_Silent_p.R360R|SHC1_ENST00000490667.1_5'UTR|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000368449.4_Silent_p.R240R|SHC1_ENST00000606391.1_Silent_p.R270R|SHC1_ENST00000368450.1_Silent_p.R359R	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	469	CH1.|Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGAGGCACGCGAAGAGCAT	0.622													C|||	793	0.158347	0.5061	0.0576	5008	,	,		19439	0.002		0.0278	False		,,,				2504	0.0552				p.R470R	NSCLC(4;32 234 1864 2492 3259 13747 17376)	Atlas-SNP	.											SHC1_ENST00000448116,NS,carcinoma,-2,2	SHC1	91	2	0			c.C1410G						PASS	.	C	,,,,	1977,2429		479,1019,705	32	35	34		1410,1077,942,1080,1407	-0.8	1	1	dbSNP_86	34	302,8298		5,292,4003	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	,,,,	484,1311,4708	CC,CG,GG		3.5116,44.8706,17.5227	,,,,	470/585,359/474,314/429,360/475,469/584	154938235	2279,10727	2203	4300	6503	SO:0001819	synonymous_variant	6464	exon11			AGGCACGCGAAGA	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1407C>G	1.37:g.154938235G>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	168	115	0.684524	NM_001130040	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Silent	SNP	ENST00000368445.5	37	CCDS30881.1	306	0.1401098901098901	260	0.5284552845528455	25	0.06906077348066299	1	0.0017482517482517483	20	0.026385224274406333	C	8.197	0.797373	0.16327	0.448706	0.035116	ENSG00000160691	ENST00000444664	T	0.47528	0.84	4.76	-0.804	0.10882	.	0.315155	0.29376	N	0.012336	T	0.19406	0.0466	.	.	.	0.09310	P	0.99999999397811	.	.	.	.	.	.	T	0.10823	-1.0613	6	0.49607	T	0.09	.	1.8226	0.03114	0.3253:0.3188:0.2166:0.1393	rs1131397;rs3191299;rs12080731;rs16990832;rs58820991;rs1131397	.	.	.	G	133	ENSP00000396333:R133G	ENSP00000396333:R133G	R	-	1	0	SHC1	153204859	0.014000	0.17966	0.981000	0.43875	0.930000	0.56654	-0.357000	0.07651	-0.231000	0.09825	-0.990000	0.02549	CGT	G|0.847;C|0.153	0.153	strong		0.622	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		C	154938235	G	C	154938235	2	2	23	1	0	0	0	0	0	0	0	1	14270	1074	38	4		4	SHC1	1	154938235	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33395	154938235	94312386	304	16760										
ZBTB7B	51043	hgsc.bcm.edu	37	chr1	154987528	154987528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcccgcctgctggagatccCgtgtgtcatcgctgcttgca	12	14	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:154987528C>T	ENST00000368426.3	+	3	529	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.P131L|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.P165L|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.P131L|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	131					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P131L(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGGAGATCCCGTGTGTCATC	0.617																																					p.P165L		Atlas-SNP	.											ZBTB7B,NS,carcinoma,0,1	ZBTB7B	69	1	1	Substitution - Missense(1)	endometrium(1)	c.C494T						scavenged	.						41	45	44					1																	154987528		2203	4300	6503	SO:0001583	missense	51043	exon4			AGATCCCGTGTGT	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.392C>T	1.37:g.154987528C>T	ENSP00000357411:p.Pro131Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_001252406	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441574	0.63067	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	3.74	3.74	0.42951	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.36591	N	0.002506	T	0.63474	0.2514	L	0.46670	1.46	0.44985	D	0.998006	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.56916	0.809;0.809;0.809	T	0.68420	-0.5413	10	0.62326	D	0.03	.	13.0548	0.58973	0.0:1.0:0.0:0.0	.	131;131;165	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	L	131;131;165;131	ENSP00000438647:P131L;ENSP00000357411:P131L;ENSP00000406286:P165L;ENSP00000292176:P131L	ENSP00000292176:P131L	P	+	2	0	ZBTB7B	153254152	0.047000	0.20315	0.831000	0.32960	0.985000	0.73830	0.371000	0.20450	1.909000	0.55274	0.462000	0.41574	CCG	.	.	none		0.617	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		T	154987528	C	T	154987528	3	4	23	1	0	0	0	0	1	0	0	0	17551	652	23	1	394	1	ZBTB7B	1	154987528	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	49293	154987528	94263093	305	16761										
DCST1	149095	hgsc.bcm.edu	37	chr1	155019698	155019698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaactggaggtgaaggtcGggggagactccatgctagcc	15	8	0	2	rs200041699	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:155019698G>A	ENST00000295542.1	+	14	1618	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.G508R|DCST1_ENST00000368419.2_Missense_Mutation_p.G508R|DCST1_ENST00000423025.2_Missense_Mutation_p.G483R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	508						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGTGAAGGTCGGGGGAGACTC	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18587	0.0		0.0	False		,,,				2504	0.0				p.G508R		Atlas-SNP	.											.	DCST1	69	.	0			c.G1522A						PASS	.	G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	82	81	81		1447,1522	4.9	0	1		81	0,8600		0,0,4300	no	missense,missense	DCST1	NM_001143687.2,NM_152494.3	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	483/682,508/707	155019698	1,13005	2203	4300	6503	SO:0001583	missense	149095	exon14			AAGGTCGGGGGAG	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1522G>A	1.37:g.155019698G>A	ENSP00000295542:p.Gly508Arg	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	253	144	0.56917	NM_152494	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496614	0.44352	2.27E-4	0.0	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.88	4.88	0.63580	Dendritic cell-specific transmembrane protein-like (1);	0.308295	0.33005	N	0.005381	T	0.20455	0.0492	L	0.40543	1.245	0.19300	N	0.999974	D;P	0.57571	0.98;0.932	P;P	0.54060	0.741;0.741	T	0.06899	-1.0801	10	0.13853	T	0.58	-11.7727	13.7183	0.62712	0.0:0.0:1.0:0.0	.	483;508	E9PHV3;Q5T197	.;DCST1_HUMAN	R	508;508;483;508	ENSP00000295542:G508R;ENSP00000376271:G508R;ENSP00000387369:G483R;ENSP00000357404:G508R	ENSP00000295542:G508R	G	+	1	0	DCST1	153286322	1.000000	0.71417	0.023000	0.16930	0.036000	0.12997	4.814000	0.62627	2.688000	0.91661	0.655000	0.94253	GGG	G|0.999;A|0.001	0.001	weak		0.542	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		A	155019698	G	A	155019698	3	1	23	1	0	0	0	0	1	0	0	0	4302	1116	39	1	1572	1	DCST1	1	155019698	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32170	155019698	94230923	306	16762										
DCST1	149095	hgsc.bcm.edu	37	chr1	155019710	155019710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaggtcgggggagactccAtgctagcccggcttcttcga	14	11	1	2	rs11264300	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:155019710A>C	ENST00000295542.1	+	14	1630	c.1534A>C	c.(1534-1536)Atg>Ctg	p.M512L	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.M512L|DCST1_ENST00000368419.2_Missense_Mutation_p.M512L|DCST1_ENST00000423025.2_Missense_Mutation_p.M487L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	512			M -> L (in dbSNP:rs11264300). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGAGACTCCATGCTAGCCCG	0.532													A|||	2777	0.554513	0.3858	0.5865	5008	,	,		18637	0.8849		0.3569	False		,,,				2504	0.6227				p.M512L		Atlas-SNP	.											DCST1,rectum,carcinoma,0,1	DCST1	69	1	0			c.A1534C						scavenged	.	A	LEU/MET,LEU/MET	1798,2608	527.6+/-372.2	350,1098,755	88	86	87		1459,1534	3.7	1	1	dbSNP_120	87	2984,5616	462.0+/-365.6	524,1936,1840	yes	missense,missense	DCST1	NM_001143687.2,NM_152494.3	15,15	874,3034,2595	CC,CA,AA		34.6977,40.808,36.7676	benign,benign	487/682,512/707	155019710	4782,8224	2203	4300	6503	SO:0001583	missense	149095	exon14			GACTCCATGCTAG	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1534A>C	1.37:g.155019710A>C	ENSP00000295542:p.Met512Leu	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	266	6	0.0225564	NM_152494	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	1163	0.5325091575091575	179	0.3638211382113821	193	0.5331491712707183	517	0.9038461538461539	274	0.36147757255936674	A	11.83	1.756878	0.31137	0.40808	0.346977	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.88	3.73	0.42828	Dendritic cell-specific transmembrane protein-like (1);	0.190127	0.51477	N	0.000086	T	0.06416	0.0165	L	0.31420	0.93	0.36215	P	0.148416	B;B	0.16166	0.016;0.016	B;B	0.18561	0.022;0.022	T	0.24048	-1.0171	9	0.06494	T	0.89	-31.4022	8.753	0.34629	0.8085:0.1915:0.0:0.0	rs11264300;rs52800761;rs60521342;rs11264300	487;512	E9PHV3;Q5T197	.;DCST1_HUMAN	L	512;512;487;512	ENSP00000295542:M512L;ENSP00000376271:M512L;ENSP00000387369:M487L;ENSP00000357404:M512L	ENSP00000295542:M512L	M	+	1	0	DCST1	153286334	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	3.293000	0.51779	0.960000	0.38005	0.533000	0.62120	ATG	A|0.559;C|0.441	0.441	strong		0.532	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		C	155019710	A	C	155019710	3	2	23	1	0	0	0	0	1	0	0	0	4302	217	8	5	1584	5	DCST1	1	155019710	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12	155019710	94230911	307	16763										
ADAM15	8751	hgsc.bcm.edu	37	chr1	155033308	155033308	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctggcacgaggcactaaGgtgagtcctggatgccagag	15	10	0	2	rs11589479	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:155033308G>A	ENST00000356955.2	+	19	2378	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	ADAM15_ENST00000368412.3_Intron|EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Splice_Site_p.K759K|EFNA4_ENST00000359751.4_5'Flank|EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000368413.1_Splice_Site_p.K465K|ADAM15_ENST00000271836.6_Splice_Site_p.K759K|EFNA4_ENST00000368409.3_5'Flank|EFNA3_ENST00000556931.1_5'Flank|ADAM15_ENST00000359280.4_Splice_Site_p.K759K|ADAM15_ENST00000449910.2_Splice_Site_p.K759K|ADAM15_ENST00000368410.2_Splice_Site_p.K465K|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000531455.1_Splice_Site_p.K769K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	759					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGGCACTAAGGTGAGTCCTG	0.627													G|||	376	0.0750799	0.0045	0.0951	5008	,	,		18530	0.0089		0.1819	False		,,,				2504	0.1145				p.K769K		Atlas-SNP	.											.	ADAM15	92	.	0			c.G2307A						PASS	.	G	,,,,,	141,4265	93.4+/-132.2	1,139,2063	56	57	57		2277,,2277,2277,2277,2277	4.8	1	1	dbSNP_120	57	1456,7144	267.9+/-287.5	118,1220,2962	yes	coding-synonymous-near-splice,intron,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ADAM15	NM_003815.3,NM_207191.1,NM_207194.1,NM_207195.1,NM_207196.1,NM_207197.1	,,,,,	119,1359,5025	AA,AG,GG		16.9302,3.2002,12.2789	,,,,,	759/815,,759/840,759/839,759/863,759/864	155033308	1597,11409	2203	4300	6503	SO:0001630	splice_region_variant	8751	exon19			CACTAAGGTGAGT	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2277+1G>A	1.37:g.155033308G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	25	14	0.56	NM_001261464	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	CCDS1087.1																																																																																			G|0.889;A|0.111	0.111	strong		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	Silent	A	155033308	G	A	155033308	5	1	23	1	0	0	0	0	0	0	1	0	237	1014	35	2	2351	2	ADAM15	1	155033308	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13598	155033308	94217313	308	16764										
CLK2	1196	hgsc.bcm.edu	37	chr1	155235736	155235736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtatgtgtcagcttgttaTcatggaggactgtaggggag	15	5	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:155235736T>C	ENST00000368361.4	-	8	1163	c.848A>G	c.(847-849)gAt>gGt	p.D283G	CLK2_ENST00000355560.4_Missense_Mutation_p.D281G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.D282G|CLK2_ENST00000536801.1_Missense_Mutation_p.D283G			P49760	CLK2_HUMAN	CDC-like kinase 2	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			CAGCTTGTTATCATGGAGGAC	0.502								Other conserved DNA damage response genes																													p.D282G		Atlas-SNP	.											CLK2,NS,carcinoma,-1,1	CLK2	55	1	0			c.A845G						scavenged	.						136	126	129					1																	155235736		2203	4300	6503	SO:0001583	missense	1196	exon8			TTGTTATCATGGA	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.848A>G	1.37:g.155235736T>C	ENSP00000357345:p.Asp283Gly	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	185	2	0.0108108	NM_003993	B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37		.	.	.	.	.	.	.	.	.	.	.	26.3	4.721785	0.89298	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045544	0.85682	D	0.000000	T	0.13841	0.0335	L	0.46741	1.465	0.80722	D	1	B;B	0.16603	0.018;0.015	B;B	0.31016	0.123;0.075	T	0.04053	-1.0981	10	0.87932	D	0	.	14.0981	0.65037	0.0:0.0:0.0:1.0	.	283;282	P49760;P49760-3	CLK2_HUMAN;.	G	282;283;281;55;283	ENSP00000354856:D282G;ENSP00000357345:D283G;ENSP00000347759:D281G;ENSP00000441023:D283G	ENSP00000347759:D281G	D	-	2	0	CLK2	153502360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	2.264000	0.75181	0.533000	0.62120	GAT	.	.	none		0.502	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		C	155235736	T	C	155235736	3	2	23	1	0	0	0	0	1	0	0	0	3537	1435	50	2	675	2	CLK2	1	155235736	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	202428	155235736	94014885	309	16765										
LMNA	4000	hgsc.bcm.edu	37	chr1	156105059	156105059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgcagcagtcgcgcatcCgcatcgacagcctctctgcc	10	17	1	0	rs59885338		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156105059C>T	ENST00000368300.4	+	5	1104	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	LMNA_ENST00000392353.3_Missense_Mutation_p.R217C|LMNA_ENST00000368297.1_Missense_Mutation_p.R217C|LMNA_ENST00000347559.2_Missense_Mutation_p.R298C|LMNA_ENST00000361308.4_Missense_Mutation_p.R298C|LMNA_ENST00000368299.3_Missense_Mutation_p.R298C|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Missense_Mutation_p.R298C|LMNA_ENST00000473598.2_Missense_Mutation_p.R199C|LMNA_ENST00000448611.2_Missense_Mutation_p.R186C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	298	Coil 2.|Rod.		R -> C (in CMT2B1). {ECO:0000269|PubMed:11799477}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GTCGCGCATCCGCATCGACAG	0.647									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																												p.R298C		Atlas-SNP	.											LMNA,colon,carcinoma,0,1	LMNA	31	1	0			c.C892T	GRCh37	CM020461	LMNA	M	rs59885338	scavenged	.						32	34	33					1																	156105059		2203	4300	6503	SO:0001583	missense	4000	exon5	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	CGCATCCGCATCG	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.892C>T	1.37:g.156105059C>T	ENSP00000357283:p.Arg298Cys	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	339	4	0.0117994	NM_170707	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333499	0.81801	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.6	5.6	0.85130	Filament (1);	0.000000	0.56097	D	0.000024	D	0.95617	0.8575	M	0.93283	3.4	0.80722	A	1	P;D;D;D;D;P;D	0.89917	0.93;1.0;0.995;0.997;0.973;0.873;1.0	P;D;D;P;P;P;D	0.75020	0.632;0.985;0.932;0.857;0.616;0.71;0.975	D	0.96329	0.9242	9	0.87932	D	0	.	17.1117	0.86676	0.0:1.0:0.0:0.0	rs59885338	186;298;199;217;298;298;298	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	C	298;298;298;298;298;298;298;186;217;199;217	ENSP00000357284:R298C;ENSP00000292304:R298C;ENSP00000355292:R298C;ENSP00000357283:R298C;ENSP00000357282:R298C;ENSP00000395597:R186C;ENSP00000357280:R217C;ENSP00000421821:R199C;ENSP00000376164:R217C	ENSP00000292302:R298C	R	+	1	0	LMNA	154371683	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.090000	0.50191	2.653000	0.90120	0.563000	0.77884	CGC	.	.	weak		0.647	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		T	156105059	C	T	156105059	3	4	23	1	0	0	0	0	1	0	0	0	8848	652	23	1	910	1	LMNA	1	156105059	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	869323	156105059	93145562	310	16766										
SEMA4A	64218	hgsc.bcm.edu	37	chr1	156146218	156146218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagaagtcctggctgtcccCaactccatcctggagctccc	8	16	0	1	rs12401573	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156146218C>T	ENST00000368285.3	+	15	1983	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	SEMA4A_ENST00000368286.2_Silent_p.P440P|SEMA4A_ENST00000368284.1_Silent_p.P440P|SEMA4A_ENST00000355014.2_Silent_p.P572P|SEMA4A_ENST00000368282.1_Silent_p.P572P	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	572					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGTCCCCAACTCCATCC	0.522													c|||	2158	0.430911	0.3949	0.5231	5008	,	,		17757	0.2321		0.6044	False		,,,				2504	0.4407				p.P572P		Atlas-SNP	.											.	SEMA4A	75	.	0			c.C1716T						PASS	.	T	,,,	1860,2546	538.7+/-375.1	401,1058,744	51	51	51		1716,1716,1320,1716	1.9	1	1	dbSNP_120	51	5056,3544	629.7+/-398.3	1488,2080,732	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	,,,	1889,3138,1476	TT,TC,CC		41.2093,42.2152,46.8245	,,,	572/762,572/762,440/630,572/762	156146218	6916,6090	2203	4300	6503	SO:0001819	synonymous_variant	64218	exon15			TGTCCCCAACTCC	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1716C>T	1.37:g.156146218C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	125	124	0.992	NM_001193300	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1																																																																																			C|0.508;T|0.492	0.492	strong		0.522	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		T	156146218	C	T	156146218	2	4	23	1	0	0	0	0	0	0	0	1	14031	581	21	2		2	SEMA4A	1	156146218	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41159	156146218	93104403	311	16767										
RHBG	57127	hgsc.bcm.edu	37	chr1	156351699	156351699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcagctggcttcttggctGggactgtctccacgctgggg	16	11	2	0	rs3748569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156351699G>A	ENST00000368249.1	+	6	981	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	RHBG_ENST00000368246.2_Missense_Mutation_p.G315R|RHBG_ENST00000255013.3_Missense_Mutation_p.G246R|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000537040.1_Missense_Mutation_p.G153R|RHBG_ENST00000400992.2_Missense_Mutation_p.G283R	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	315			G -> R (in dbSNP:rs3748569). {ECO:0000269|PubMed:15489334}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCTTGGCTGGGACTGTCTC	0.572													G|||	2728	0.544728	0.5719	0.6037	5008	,	,		18935	0.7014		0.4095	False		,,,				2504	0.4438				p.G315R		Atlas-SNP	.											.	RHBG	133	.	0			c.G943A						PASS	.	G	ARG/GLY	2175,1959		576,1023,468	95	106	103		943	4.4	1	1	dbSNP_107	103	3575,4831		782,2011,1410	yes	missense	RHBG	NM_020407.3	125	1358,3034,1878	AA,AG,GG		42.5291,47.3875,45.8533	probably-damaging	315/459	156351699	5750,6790	2067	4203	6270	SO:0001583	missense	57127	exon6			TTGGCTGGGACTG	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.943G>A	1.37:g.156351699G>A	ENSP00000357232:p.Gly315Arg	Somatic	321	2	0.00623053		WXS	Illumina HiSeq	Phase_I	412	260	0.631068	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		1209	0.5535714285714286	287	0.5833333333333334	208	0.574585635359116	403	0.7045454545454546	311	0.4102902374670185	G	26.5	4.744673	0.89663	0.526125	0.425291	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.049574	0.85682	D	0.000000	T	0.67325	0.2881	M	0.93763	3.455	0.09310	P	1.0	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;1.0;0.999	T	0.77643	-0.2511	9	0.72032	D	0.01	-1.7511	14.5902	0.68359	0.0:0.0:1.0:0.0	rs3748569;rs17855953;rs52807244;rs58877861;rs3748569	315;153;283;352	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	R	315;315;153;283;246	ENSP00000357232:G315R;ENSP00000357229:G315R;ENSP00000441197:G153R;ENSP00000383777:G283R;ENSP00000255013:G246R	ENSP00000255013:G246R	G	+	1	0	RHBG	154618323	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.438000	0.80431	2.286000	0.76751	0.561000	0.74099	GGG	G|0.472;A|0.528	0.528	strong		0.572	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156351699	G	A	156351699	3	1	23	1	0	0	0	0	1	0	0	0	13324	1348	47	2	965	2	RHBG	1	156351699	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	205481	156351699	92898922	312	16768										
IQGAP3	128239	hgsc.bcm.edu	37	chr1	156499969	156499969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagggcttcaagtcggcgTaggttccgcaggacgcgccg	15	14	1	0	rs386635735|rs1171566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156499969T>C	ENST00000361170.2	-	34	4342	c.4332A>G	c.(4330-4332)ctA>ctG	p.L1444L	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1444					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGTCGGCGTAGGTTCCGCA	0.647													C|||	3033	0.605631	0.8449	0.4424	5008	,	,		406	0.6022		0.33	False		,,,				2504	0.6851				p.L1444L		Atlas-SNP	.											IQGAP3,NS,carcinoma,0,1	IQGAP3	146	1	0			c.A4332G						PASS	.	C		3226,1180	404.0+/-332.9	1179,868,156	52	46	48		4332	4.5	1	1	dbSNP_87	48	2795,5805	665.5+/-402.3	475,1845,1980	no	coding-synonymous	IQGAP3	NM_178229.4		1654,2713,2136	CC,CT,TT		32.5,26.7817,46.294		1444/1632	156499969	6021,6985	2203	4300	6503	SO:0001819	synonymous_variant	128239	exon34			TCGGCGTAGGTTC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4332A>G	1.37:g.156499969T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	176	173	0.982955	NM_178229	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																			T|0.489;C|0.511	0.511	strong		0.647	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156499969	T	C	156499969	2	2	23	1	0	0	0	0	0	0	0	1	7816	1625	57	2		2	IQGAP3	1	156499969	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	148270	156499969	92750652	313	16769										
IQGAP3	128239	hgsc.bcm.edu	37	chr1	156518379	156518379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttggggccattacctggacGctgtttctttgccatggcac	12	11	1	0	rs744224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156518379G>A	ENST00000361170.2	-	17	1997	c.1987C>T	c.(1987-1989)Cgt>Tgt	p.R663C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	663			R -> C (in dbSNP:rs744224). {ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTACCTGGACGCTGTTTCTTT	0.607													G|||	2039	0.407149	0.2958	0.3646	5008	,	,		19167	0.5724		0.2575	False		,,,				2504	0.5716				p.R663C		Atlas-SNP	.											IQGAP3,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	IQGAP3	146	1	0			c.C1987T						PASS	.	G	CYS/ARG	1316,3090	443.9+/-347.2	196,924,1083	143	101	115		1987	1.9	0	1	dbSNP_86	115	2370,6230	394.8+/-344.8	341,1688,2271	yes	missense	IQGAP3	NM_178229.4	180	537,2612,3354	AA,AG,GG		27.5581,29.8684,28.3408	benign	663/1632	156518379	3686,9320	2203	4300	6503	SO:0001583	missense	128239	exon17			CTGGACGCTGTTT	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1987C>T	1.37:g.156518379G>A	ENSP00000354451:p.Arg663Cys	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	181	178	0.983425	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	758	0.34706959706959706	134	0.27235772357723576	123	0.3397790055248619	311	0.5437062937062938	190	0.25065963060686014	G	3.973	-0.007916	0.07773	0.298684	0.275581	ENSG00000183856	ENST00000361170	T	0.06849	3.25	4.85	1.89	0.25635	.	1.156880	0.06169	N	0.677301	T	0.02455	0.0075	L	0.29908	0.895	0.80722	P	0.0	B	0.10296	0.003	B	0.01281	0.0	T	0.42085	-0.9472	9	0.48119	T	0.1	2.333	9.5002	0.39013	0.2415:0.0:0.7585:0.0	rs744224;rs1774954;rs17391814;rs57842273;rs744224	663	Q86VI3	IQGA3_HUMAN	C	663	ENSP00000354451:R663C	ENSP00000354451:R663C	R	-	1	0	IQGAP3	154785003	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.029000	0.12329	0.108000	0.17862	-0.258000	0.10820	CGT	G|0.683;A|0.317	0.317	strong		0.607	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156518379	G	A	156518379	3	1	23	1	0	0	0	0	1	0	0	0	7816	1087	38	1	2996	1	IQGAP3	1	156518379	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18410	156518379	92732242	314	16770										
BCAN	63827	hgsc.bcm.edu	37	chr1	156627996	156627996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcgtggtcatggtgtggcaTgatcagggacaatggagtga	17	5	2	2	rs2298135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156627996T>C	ENST00000329117.5	+	12	2706	c.2370T>C	c.(2368-2370)caT>caC	p.H790H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	790	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTGTGGCATGATCAGGGAC	0.592											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	735	0.146765	0.0219	0.1441	5008	,	,		18252	0.2937		0.0408	False		,,,				2504	0.2751				p.H790H		Atlas-SNP	.											.	BCAN	174	.	0			c.T2370C						PASS	.	T		113,4293	86.3+/-125.0	1,111,2091	131	101	111		2370	-2.2	1	1	dbSNP_100	111	322,8278	112.9+/-173.0	5,312,3983	no	coding-synonymous	BCAN	NM_021948.4		6,423,6074	CC,CT,TT		3.7442,2.5647,3.3446		790/912	156627996	435,12571	2203	4300	6503	SO:0001819	synonymous_variant	63827	exon12			GTGGCATGATCAG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2370T>C	1.37:g.156627996T>C		Somatic	258	0	0	1779	WXS	Illumina HiSeq	Phase_I	317	103	0.324921	NM_021948	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																			T|0.928;C|0.072	0.072	strong		0.592	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		C	156627996	T	C	156627996	2	2	23	1	0	0	0	0	0	0	0	1	1345	1461	51	2		2	BCAN	1	156627996	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	109617	156627996	92622625	315	16771										
NES	10763	hgsc.bcm.edu	37	chr1	156639636	156639636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctctgggagctactcagGgcctggaggctgccaacaga	13	13	2	1	rs11549292	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156639636G>A	ENST00000368223.3	-	4	4476	c.4344C>T	c.(4342-4344)gcC>gcT	p.A1448A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1448	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.A1448A(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTACTCAGGGCCTGGAGGC	0.637													G|||	1122	0.224042	0.0204	0.2882	5008	,	,		15261	0.2946		0.3032	False		,,,				2504	0.2996				p.A1448A		Atlas-SNP	.											NES,NS,carcinoma,0,1	NES	196	1	1	Substitution - coding silent(1)	prostate(1)	c.C4344T						PASS	.	G		300,4102		13,274,1914	31	34	33		4344	-0.5	0	1	dbSNP_120	33	2450,6148		356,1738,2205	no	coding-synonymous	NES	NM_006617.1		369,2012,4119	AA,AG,GG		28.495,6.8151,21.1538		1448/1622	156639636	2750,10250	2201	4299	6500	SO:0001819	synonymous_variant	10763	exon4			ACTCAGGGCCTGG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4344C>T	1.37:g.156639636G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	128	47	0.367188	NM_006617	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																			G|0.773;A|0.227	0.227	strong		0.637	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156639636	G	A	156639636	2	1	23	1	0	0	0	0	0	0	0	1	10337	1219	43	2		2	NES	1	156639636	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11640	156639636	92610985	316	16772										
NES	10763	hgsc.bcm.edu	37	chr1	156640308	156640308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttccaggatcggggtgtaCgttgggctgggggagaccag	18	8	1	1	rs3748571	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156640308C>T	ENST00000368223.3	-	4	3804	c.3672G>A	c.(3670-3672)acG>acA	p.T1224T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1224	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGGGTGTACGTTGGGCTGG	0.652													C|||	1123	0.224241	0.0159	0.2882	5008	,	,		17214	0.2946		0.3032	False		,,,				2504	0.3067				p.T1224T		Atlas-SNP	.											NES,rectum,carcinoma,0,1	NES	196	1	0			c.G3672A						scavenged	.	C		278,4128	154.8+/-188.1	8,262,1933	79	78	79		3672	-6.6	0	1	dbSNP_107	79	2455,6145	399.5+/-346.5	350,1755,2195	no	coding-synonymous	NES	NM_006617.1		358,2017,4128	TT,TC,CC		28.5465,6.3096,21.0134		1224/1622	156640308	2733,10273	2203	4300	6503	SO:0001819	synonymous_variant	10763	exon4			GGTGTACGTTGGG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3672G>A	1.37:g.156640308C>T		Somatic	88	1	0.0113636		WXS	Illumina HiSeq	Phase_I	135	40	0.296296	NM_006617	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																			C|0.788;T|0.212	0.212	strong		0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156640308	C	T	156640308	2	4	23	1	0	0	0	0	0	0	0	1	10337	523	19	1		1	NES	1	156640308	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	672	156640308	92610313	317	16773										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156873727	156873727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcctctgcaatgtcaccGcctctgtgtcccctccttct	7	18	4	0	rs12407843	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156873727G>A	ENST00000338302.3	+	3	234	c.9G>A	c.(7-9)ccG>ccA	p.P3P	PEAR1_ENST00000292357.7_Silent_p.P3P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	3					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAATGTCACCGCCTCTGTGTC	0.637													g|||	974	0.194489	0.146	0.1499	5008	,	,		17619	0.3442		0.1113	False		,,,				2504	0.2229				p.P3P		Atlas-SNP	.											.	PEAR1	118	.	0			c.G9A						PASS	.			638,3768	274.3+/-271.8	57,524,1622	112	100	104		9	-4.5	0	1	dbSNP_120	104	974,7626	212.1+/-252.5	61,852,3387	no	coding-synonymous	PEAR1	NM_001080471.1		118,1376,5009	AA,AG,GG		11.3256,14.4803,12.3943		3/1038	156873727	1612,11394	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon2			GTCACCGCCTCTG	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.9G>A	1.37:g.156873727G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	66	26	0.393939	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			G|0.842;A|0.158	0.158	strong		0.637	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156873727	G	A	156873727	2	1	23	1	0	0	0	0	0	0	0	1	11712	1074	38	1		1	PEAR1	1	156873727	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	233419	156873727	92376894	318	16774										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156877797	156877797	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaacggcggcctctgtgacCgattcactgggcagtgccgc	13	14	2	1	rs77235035	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156877797C>A	ENST00000338302.3	+	9	1081	c.856C>A	c.(856-858)Cga>Aga	p.R286R	PEAR1_ENST00000292357.7_Silent_p.R286R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	286	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCTGTGACCGATTCACTGG	0.692													C|||	1140	0.227636	0.2383	0.1931	5008	,	,		12560	0.3502		0.1223	False		,,,				2504	0.2198				p.R286R		Atlas-SNP	.											PEAR1,NS,carcinoma,0,2	PEAR1	118	2	0			c.C856A						scavenged	.	C		972,3404		115,742,1331	13	14	14		856	3.6	1	1	dbSNP_131	14	1050,7512		71,908,3302	no	coding-synonymous	PEAR1	NM_001080471.1		186,1650,4633	AA,AC,CC		12.2635,22.2121,15.6284		286/1038	156877797	2022,10916	2188	4281	6469	SO:0001819	synonymous_variant	375033	exon8			TGTGACCGATTCA	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.856C>A	1.37:g.156877797C>A		Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	286	90	0.314685	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			C|0.810;A|0.190	0.190	strong		0.692	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156877797	C	A	156877797	2	1	23	1	0	0	0	0	0	0	0	1	11712	644	23	4		4	PEAR1	1	156877797	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4070	156877797	92372824	319	16775										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156878531	156878531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgcccgcaggacacgcaTgggccagggtgccaggagca	16	13	0	0	rs11264580	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156878531T>C	ENST00000338302.3	+	11	1425	c.1200T>C	c.(1198-1200)caT>caC	p.H400H	PEAR1_ENST00000292357.7_Silent_p.H400H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	400	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACACGCATGGGCCAGGGT	0.716													C|||	1118	0.223243	0.2617	0.1585	5008	,	,		14582	0.3135		0.1243	False		,,,				2504	0.226				p.H400H		Atlas-SNP	.											PEAR1,colon,carcinoma,0,1	PEAR1	118	1	0			c.T1200C						PASS	.	C		1033,3307		130,773,1267	16	15	15		1200	1.9	1	1	dbSNP_120	15	1014,7508		64,886,3311	no	coding-synonymous	PEAR1	NM_001080471.1		194,1659,4578	CC,CT,TT		11.8986,23.8018,15.9151		400/1038	156878531	2047,10815	2170	4261	6431	SO:0001819	synonymous_variant	375033	exon10			CACGCATGGGCCA	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1200T>C	1.37:g.156878531T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	81	20	0.246914	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			T|0.780;C|0.220	0.220	strong		0.716	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156878531	T	C	156878531	2	2	23	1	0	0	0	0	0	0	0	1	11712	1461	51	2		2	PEAR1	1	156878531	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	734	156878531	92372090	320	16776										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156879580	156879580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctctgtgccctgcccaccCggaacctggggcttcagttg	12	15	2	0	rs3737224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156879580C>T	ENST00000338302.3	+	13	1674	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	PEAR1_ENST00000292357.7_Silent_p.P483P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	483					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCCCACCCGGAACCTGGG	0.622													C|||	885	0.176717	0.1589	0.1037	5008	,	,		17946	0.3145		0.1024	False		,,,				2504	0.1871				p.P483P		Atlas-SNP	.											.	PEAR1	118	.	0			c.C1449T						PASS	.	C		687,3719	286.9+/-279.0	57,573,1573	51	49	50		1449	-2	0.9	1	dbSNP_107	50	891,7709	199.2+/-243.3	50,791,3459	no	coding-synonymous	PEAR1	NM_001080471.1		107,1364,5032	TT,TC,CC		10.3605,15.5924,12.1329		483/1038	156879580	1578,11428	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon12			CCCACCCGGAACC	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1449C>T	1.37:g.156879580C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	188	72	0.382979	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			C|0.847;T|0.153	0.153	strong		0.622	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156879580	C	T	156879580	2	4	23	1	0	0	0	0	0	0	0	1	11712	639	23	1		1	PEAR1	1	156879580	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1049	156879580	92371041	321	16777										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156882996	156882996	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcatgcagatgtccctccGagctacagtcactactactc	7	14	2	1	rs822441	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156882996G>C	ENST00000338302.3	+	20	2658	c.2433G>C	c.(2431-2433)ccG>ccC	p.P811P	PEAR1_ENST00000292357.7_Silent_p.P811P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	811	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGTCCCTCCGAGCTACAGTC	0.597													G|||	1599	0.319289	0.5477	0.147	5008	,	,		18610	0.3323		0.159	False		,,,				2504	0.2843				p.P811P		Atlas-SNP	.											PEAR1,NS,carcinoma,+2,1	PEAR1	118	1	0			c.G2433C						scavenged	.	G		2121,2285	577.1+/-384.4	487,1147,569	124	117	120		2433	-10.6	0	1	dbSNP_86	120	1372,7228	267.2+/-287.2	116,1140,3044	no	coding-synonymous	PEAR1	NM_001080471.1		603,2287,3613	CC,CG,GG		15.9535,48.1389,26.8568		811/1038	156882996	3493,9513	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon19			CCCTCCGAGCTAC	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2433G>C	1.37:g.156882996G>C		Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	204	58	0.284314	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			G|0.714;C|0.285	0.285	strong		0.597	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156882996	G	C	156882996	2	2	23	1	0	0	0	0	0	0	0	1	11712	1045	37	4		4	PEAR1	1	156882996	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3416	156882996	92367625	322	16778										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156883215	156883215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctttgccagcctgcagaaCcctgagcggccaggtggggc	14	14	1	2	rs822442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156883215C>A	ENST00000338302.3	+	21	2769	c.2544C>A	c.(2542-2544)aaC>aaA	p.N848K	PEAR1_ENST00000292357.7_Missense_Mutation_p.N848K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	848	Pro-rich.		N -> K (in dbSNP:rs822442).		recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTGCAGAACCCTGAGCGGC	0.647													C|||	950	0.189696	0.2481	0.1023	5008	,	,		16630	0.2897		0.1034	False		,,,				2504	0.1585				p.N848K		Atlas-SNP	.											.	PEAR1	118	.	0			c.C2544A						PASS	.	C	LYS/ASN	1001,3405	334.4+/-303.4	112,777,1314	41	43	42		2544	2.6	0	1	dbSNP_86	42	992,7608	197.1+/-241.8	60,872,3368	yes	missense	PEAR1	NM_001080471.1	94	172,1649,4682	AA,AC,CC		11.5349,22.719,15.3237	benign	848/1038	156883215	1993,11013	2203	4300	6503	SO:0001583	missense	375033	exon20			GCAGAACCCTGAG	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2544C>A	1.37:g.156883215C>A	ENSP00000344465:p.Asn848Lys	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	160	60	0.375	NM_001080471	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	416	0.19047619047619047	106	0.21544715447154472	42	0.11602209944751381	193	0.3374125874125874	75	0.09894459102902374	C	0.022	-1.409761	0.01155	0.22719	0.115349	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.89050	-2.46;-2.46	5.66	2.64	0.31445	.	1.164240	0.06539	N	0.742807	T	0.71247	0.3317	L	0.36672	1.1	0.80722	P	0.0	B	0.21520	0.057	B	0.14023	0.01	T	0.44003	-0.9356	9	0.20519	T	0.43	.	10.6155	0.45447	0.2184:0.6563:0.1253:0.0	rs822442	848	Q5VY43	PEAR1_HUMAN	K	848	ENSP00000344465:N848K;ENSP00000292357:N848K	ENSP00000292357:N848K	N	+	3	2	PEAR1	155149839	0.001000	0.12720	0.003000	0.11579	0.069000	0.16628	1.345000	0.33953	0.269000	0.21961	0.563000	0.77884	AAC	C|0.841;A|0.159	0.159	strong		0.647	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156883215	C	A	156883215	3	1	23	1	0	0	0	0	1	0	0	0	11712	506	18	4	2618	4	PEAR1	1	156883215	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	219	156883215	92367406	323	16779										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156884584	156884584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccacttcgacgccaggaCcgttgaggagccaggatggt	13	13	0	1	rs56260937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156884584C>T	ENST00000338302.3	+	24	3333	c.3108C>T	c.(3106-3108)gaC>gaT	p.D1036D	PEAR1_ENST00000292357.7_Silent_p.D1036D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1036					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACGCCAGGACCGTTGAGGAG	0.612													C|||	938	0.1873	0.1573	0.1628	5008	,	,		20931	0.2827		0.173	False		,,,				2504	0.1616				p.D1036D		Atlas-SNP	.											PEAR1,colon,carcinoma,+2,1	PEAR1	118	1	0			c.C3108T						PASS	.	C		729,3677	300.4+/-286.3	71,587,1545	130	88	102		3108	0.7	1	1	dbSNP_129	102	1439,7161	276.0+/-292.1	123,1193,2984	no	coding-synonymous	PEAR1	NM_001080471.1		194,1780,4529	TT,TC,CC		16.7326,16.5456,16.6692		1036/1038	156884584	2168,10838	2203	4300	6503	SO:0001819	synonymous_variant	375033	exon23			CCAGGACCGTTGA	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.3108C>T	1.37:g.156884584C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			C|0.824;T|0.176	0.176	strong		0.612	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156884584	C	T	156884584	2	4	23	1	0	0	0	0	0	0	0	1	11712	506	18	2		2	PEAR1	1	156884584	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1369	156884584	92366037	324	16780										
C1orf92	149499	hgsc.bcm.edu	37	chr1	156890672	156890672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagaagtcttctggcgcggTgaccaaaaagggagagcgcg	15	10	2	3	rs41273221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156890672T>C	ENST00000337428.7	+	1	231	c.77T>C	c.(76-78)gTg>gCg	p.V26A		NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	26										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TCTGGCGCGGTGACCAAAAAG	0.697													T|||	945	0.188698	0.1604	0.1628	5008	,	,		13847	0.2847		0.174	False		,,,				2504	0.1616				p.V26A		Atlas-SNP	.											.	LRRC71	33	.	0			c.T77C						PASS	.						10	17	15					1																	156890672		690	1587	2277	SO:0001583	missense	149499	exon1			GCGCGGTGACCAA	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.77T>C	1.37:g.156890672T>C	ENSP00000336661:p.Val26Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	64	63	0.984375	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	457	0.20924908424908426	79	0.16056910569105692	69	0.19060773480662985	185	0.32342657342657344	124	0.16358839050131926	T	10.69	1.421957	0.25639	.	.	ENSG00000160838	ENST00000337428	T	0.25250	1.81	4.97	-2.03	0.07365	.	0.956381	0.08632	N	0.916908	T	0.04952	0.0133	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40346	-0.9568	9	0.56958	D	0.05	-9.6466	4.4224	0.11486	0.1486:0.3411:0.0:0.5104	rs41273221;rs62640956	26	Q8N4P6	LRC71_HUMAN	A	26	ENSP00000336661:V26A	ENSP00000336661:V26A	V	+	2	0	LRRC71	155157296	0.440000	0.25618	0.020000	0.16555	0.172000	0.22775	0.040000	0.13905	-0.554000	0.06150	0.397000	0.26171	GTG	T|0.793;C|0.207	0.207	strong		0.697	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		C	156890672	T	C	156890672	3	2	23	1	0	0	0	0	1	0	0	0	2069	1696	59	2	79	2	C1orf92	1	156890672	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6088	156890672	92359949	325	16781										
C1orf92	149499	hgsc.bcm.edu	37	chr1	156902222	156902222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaacttccaccagggaaccGcatcacagaggtggggctgg	14	11	1	1	rs12119908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156902222G>A	ENST00000337428.7	+	14	1602	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	483			R -> H (in dbSNP:rs12119908).							endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						CCAGGGAACCGCATCACAGAG	0.597													G|||	1000	0.199681	0.1936	0.1643	5008	,	,		18902	0.2907		0.174	False		,,,				2504	0.1656				p.R483H		Atlas-SNP	.											LRRC71,caecum,carcinoma,0,1	LRRC71	33	1	0			c.G1448A						scavenged	.	G	HIS/ARG	812,3466		85,642,1412	38	44	42		1448	2.1	1	1	dbSNP_120	42	1412,7094		118,1176,2959	yes	missense	LRRC71	NM_144702.2	29	203,1818,4371	AA,AG,GG		16.6,18.9808,17.3967	possibly-damaging	483/560	156902222	2224,10560	2139	4253	6392	SO:0001583	missense	149499	exon14			GGAACCGCATCAC	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1448G>A	1.37:g.156902222G>A	ENSP00000336661:p.Arg483His	Somatic	126	2	0.015873		WXS	Illumina HiSeq	Phase_I	176	171	0.971591	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	477	0.2184065934065934	96	0.1951219512195122	71	0.19613259668508287	186	0.32517482517482516	124	0.16358839050131926	G	14.54	2.567291	0.45694	0.189808	0.166	ENSG00000160838	ENST00000337428	T	0.53640	0.61	5.01	2.13	0.27403	.	0.775970	0.11438	N	0.564117	T	0.29652	0.0740	L	0.54323	1.7	0.44447	P	0.0026279999999999637	D;D	0.57571	0.976;0.98	B;P	0.48598	0.403;0.583	T	0.04650	-1.0936	9	0.35671	T	0.21	-3.6571	7.2592	0.26193	0.2849:0.0:0.7151:0.0	rs12119908;rs52826821;rs56456749;rs60342966;rs12119908	483;269	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	H	483	ENSP00000336661:R483H	ENSP00000336661:R483H	R	+	2	0	LRRC71	155168846	0.389000	0.25205	0.989000	0.46669	0.308000	0.27856	0.171000	0.16685	0.284000	0.22305	-0.253000	0.11424	CGC	G|0.784;A|0.216	0.216	strong		0.597	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		A	156902222	G	A	156902222	3	1	23	1	0	0	0	0	1	0	0	0	2069	1087	38	1	1502	1	C1orf92	1	156902222	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11550	156902222	92348399	326	16782										
C1orf92	149499	hgsc.bcm.edu	37	chr1	156902281	156902281	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagtatcagatgcagttcTccaaggccaagagtgcatcc	10	11	2	2	rs822431	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156902281T>G	ENST00000337428.7	+	14	1661	c.1507T>G	c.(1507-1509)Tcc>Gcc	p.S503A	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	503			S -> A (in dbSNP:rs822431).					p.S503A(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GATGCAGTTCTCCAAGGCCAA	0.597													T|||	1417	0.282947	0.447	0.2997	5008	,	,		17869	0.2917		0.175	False		,,,				2504	0.1513				p.S503A		Atlas-SNP	.											LRRC71,NS,carcinoma,0,1	LRRC71	33	1	1	Substitution - Missense(1)	stomach(1)	c.T1507G						PASS	.	T	ALA/SER	1753,2541		395,963,789	65	75	72		1507	0.6	1	1	dbSNP_86	72	1468,7064		128,1212,2926	yes	missense	LRRC71	NM_144702.2	99	523,2175,3715	GG,GT,TT		17.2058,40.8244,25.1131	benign	503/560	156902281	3221,9605	2147	4266	6413	SO:0001583	missense	149499	exon14			CAGTTCTCCAAGG	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1507T>G	1.37:g.156902281T>G	ENSP00000336661:p.Ser503Ala	Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	247	241	0.975708	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	631	0.2889194139194139	204	0.4146341463414634	113	0.31215469613259667	188	0.32867132867132864	126	0.1662269129287599	T	9.430	1.085354	0.20390	0.408244	0.172058	ENSG00000160838	ENST00000337428	T	0.20598	2.06	4.59	0.602	0.17535	.	0.698180	0.12516	N	0.462092	T	0.03305	0.0096	L	0.29908	0.895	0.42428	P	0.007337999999999956	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.41645	-0.9497	9	0.23891	T	0.37	-17.0122	0.4647	0.00522	0.1848:0.2001:0.1681:0.4469	rs822431;rs60893033;rs822431	503;289	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	A	503	ENSP00000336661:S503A	ENSP00000336661:S503A	S	+	1	0	LRRC71	155168905	0.114000	0.22134	0.998000	0.56505	0.956000	0.61745	-0.154000	0.10130	0.265000	0.21872	0.460000	0.39030	TCC	T|0.706;G|0.294	0.294	strong		0.597	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		G	156902281	T	G	156902281	3	3	23	1	0	0	0	0	1	0	0	0	2069	1551	54	5	1561	5	C1orf92	1	156902281	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	59	156902281	92348340	327	16783										
ARHGEF11	9826	hgsc.bcm.edu	37	chr1	156909695	156909695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacaggatcagatgtcgcagGttctccactggaggggaaac	13	10	2	1	rs2275199	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:156909695G>A	ENST00000361409.2	-	36	4363	c.3621C>T	c.(3619-3621)aaC>aaT	p.N1207N	ARHGEF11_ENST00000315174.8_Silent_p.N623N|ARHGEF11_ENST00000368194.3_Silent_p.N1247N|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1207					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GATGTCGCAGGTTCTCCACTG	0.597													G|||	955	0.190695	0.1634	0.1628	5008	,	,		20161	0.2867		0.174	False		,,,				2504	0.1656				p.N1247N		Atlas-SNP	.											.	ARHGEF11	168	.	0			c.C3741T						PASS	.	G	,	739,3667	301.0+/-286.6	72,595,1536	49	52	51		3621,3741	1.2	1	1	dbSNP_100	51	1450,7150	273.7+/-290.8	129,1192,2979	no	coding-synonymous,coding-synonymous	ARHGEF11	NM_014784.2,NM_198236.1	,	201,1787,4515	AA,AG,GG		16.8605,16.7726,16.8307	,	1207/1523,1247/1563	156909695	2189,10817	2203	4300	6503	SO:0001819	synonymous_variant	9826	exon37			TCGCAGGTTCTCC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3621C>T	1.37:g.156909695G>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	17	16	0.941176	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																			G|0.817;A|0.183	0.183	strong		0.597	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156909695	G	A	156909695	2	1	23	1	0	0	0	0	0	0	0	1	896	1252	44	2		2	ARHGEF11	1	156909695	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7414	156909695	92340926	328	16784										
ETV3L	440695	hgsc.bcm.edu	37	chr1	157069134	157069134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgccgggagcctggggacGactcggctttgtaggcccaa	15	12	1	0	rs61730132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:157069134G>A	ENST00000454449.2	-	2	379	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	32					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCCTGGGGACGACTCGGCTTT	0.642													G|||	26	0.00519169	0.0008	0.0029	5008	,	,		17095	0.0		0.0109	False		,,,				2504	0.0123				p.S32L		Atlas-SNP	.											.	ETV3L	73	.	0			c.C95T						PASS	.	G	LEU/SER	5,4401	9.9+/-24.2	0,5,2198	51	51	51		95	4	1	1	dbSNP_129	51	74,8526	43.6+/-101.6	0,74,4226	yes	missense	ETV3L	NM_001004341.2	145	0,79,6424	AA,AG,GG		0.8605,0.1135,0.6074	probably-damaging	32/362	157069134	79,12927	2203	4300	6503	SO:0001583	missense	440695	exon2			GGGGACGACTCGG	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.95C>T	1.37:g.157069134G>A	ENSP00000430271:p.Ser32Leu	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	231	94	0.406926	NM_001004341		Missense_Mutation	SNP	ENST00000454449.2	37	CCDS30893.1	11	0.005036630036630037	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	9	0.011873350923482849	G	24.7	4.556591	0.86231	0.001135	0.008605	ENSG00000253831	ENST00000454449	T	0.12255	2.7	4.96	4.03	0.46877	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.32802	N	0.005635	T	0.16685	0.0401	L	0.34521	1.04	0.40492	D	0.980559	D	0.89917	1.0	D	0.78314	0.991	T	0.02625	-1.1132	10	0.87932	D	0	.	14.2718	0.66155	0.0:0.1505:0.8495:0.0	rs61730132	32	Q6ZN32	ETV3L_HUMAN	L	32	ENSP00000430271:S32L	ENSP00000430271:S32L	S	-	2	0	ETV3L	155335758	1.000000	0.71417	0.954000	0.39281	0.918000	0.54935	5.422000	0.66453	1.271000	0.44313	0.655000	0.94253	TCG	G|0.994;A|0.006	0.006	strong		0.642	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		A	157069134	G	A	157069134	3	1	23	1	0	0	0	0	1	0	0	0	5280	1059	37	1	1006	1	ETV3L	1	157069134	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	159439	157069134	92181487	329	16785										
FCRL4	83417	hgsc.bcm.edu	37	chr1	157559122	157559122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttttctccccagtagtgcCgatgataccatgttgttttc	7	11	1	1	rs11582663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:157559122C>T	ENST00000271532.1	-	3	314	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	60	Ig-like C2-type 1.		R -> Q (in dbSNP:rs11582663).		immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAGTAGTGCCGATGATACCA	0.517													C|||	234	0.0467252	0.0045	0.0692	5008	,	,		19974	0.001		0.1581	False		,,,				2504	0.0204				p.R60Q		Atlas-SNP	.											.	FCRL4	95	.	0			c.G179A						PASS	.	C	GLN/ARG	136,4270	98.0+/-136.7	5,126,2072	109	93	99		179	-3.9	0	1	dbSNP_120	99	1305,7295	257.9+/-281.7	88,1129,3083	yes	missense	FCRL4	NM_031282.2	43	93,1255,5155	TT,TC,CC		15.1744,3.0867,11.0795	benign	60/516	157559122	1441,11565	2203	4300	6503	SO:0001583	missense	83417	exon3			TAGTGCCGATGAT	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.179G>A	1.37:g.157559122C>T	ENSP00000271532:p.Arg60Gln	Somatic	437	0	0		WXS	Illumina HiSeq	Phase_I	594	594	1	NM_031282	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	157	0.07188644688644688	4	0.008130081300813009	29	0.08011049723756906	0	0.0	124	0.16358839050131926	C	0.693	-0.793811	0.02862	0.030867	0.151744	ENSG00000163518	ENST00000271532	T	0.54279	0.58	1.95	-3.9	0.04181	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13286	0.0322	L	0.36672	1.1	0.80722	P	0.0	B	0.24043	0.096	B	0.23419	0.046	T	0.18241	-1.0343	8	0.38643	T	0.18	.	0.1358	0.00078	0.342:0.2316:0.1692:0.2572	rs11582663;rs52802570;rs59243416;rs11582663	60	Q96PJ5	FCRL4_HUMAN	Q	60	ENSP00000271532:R60Q	ENSP00000271532:R60Q	R	-	2	0	FCRL4	155825746	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.398000	0.02066	-1.082000	0.02213	CGG	C|0.911;T|0.089	0.089	strong		0.517	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157559122	C	T	157559122	3	4	23	1	0	0	0	0	1	0	0	0	5797	652	23	1	1408	1	FCRL4	1	157559122	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	489988	157559122	91691499	330	16786										
CD1C	911	hgsc.bcm.edu	37	chr1	158261015	158261015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggctcaggatggctggaCgagttgcagactcatggctg	16	9	2	1	rs3138099	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158261015C>T	ENST00000368170.3	+	2	432	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	51					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GATGGCTGGACGAGTTGCAGA	0.502													C|||	301	0.0601038	0.1672	0.0331	5008	,	,		19056	0.0		0.0447	False		,,,				2504	0.0123				p.D51D		Atlas-SNP	.											.	CD1C	100	.	0			c.C153T						PASS	.	C		615,3791		46,523,1634	107	93	98		153	-1.9	0	1	dbSNP_104	98	413,8187		13,387,3900	no	coding-synonymous	CD1C	NM_001765.2		59,910,5534	TT,TC,CC		4.8023,13.9582,7.904		51/334	158261015	1028,11978	2203	4300	6503	SO:0001819	synonymous_variant	911	exon2			GCTGGACGAGTTG	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.153C>T	1.37:g.158261015C>T		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	400	219	0.5475	NM_001765	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	CCDS1175.1																																																																																			C|0.928;T|0.072	0.072	strong		0.502	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		T	158261015	C	T	158261015	2	4	23	1	0	0	0	0	0	0	0	1	2976	535	19	1		1	CD1C	1	158261015	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	701893	158261015	90989606	331	16787										
CD1B	910	hgsc.bcm.edu	37	chr1	158299358	158299358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacccacacgggctttgggtAgaatcctgagacatggcaca	11	12	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158299358A>G	ENST00000368168.3	-	4	795	c.688T>C	c.(688-690)Tac>Cac	p.Y230H		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	230	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGCTTTGGGTAGAATCCTGAG	0.587																																					p.Y230H		Atlas-SNP	.											CD1B,colon,carcinoma,+1,1	CD1B	78	1	0			c.T688C						PASS	.						91	87	88					1																	158299358		2203	4300	6503	SO:0001583	missense	910	exon4			TTGGGTAGAATCC	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.688T>C	1.37:g.158299358A>G	ENSP00000357150:p.Tyr230His	Somatic	325	0	0		WXS	Illumina HiSeq	Phase_I	396	231	0.583333	NM_001764	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.94|12.94	2.086996|2.086996	0.36855|0.36855	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.03920	.|3.76	4.26|4.26	1.9|1.9	0.25705|0.25705	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.196307	.|0.25509	.|N	.|0.030200	T|T	0.04952|0.04952	0.0133|0.0133	M|M	0.64080|0.64080	1.96|1.96	0.28660|0.28660	N|N	0.9062|0.9062	.|D;P	.|0.54397	.|0.966;0.888	.|P;P	.|0.59546	.|0.859;0.668	T|T	0.22556|0.22556	-1.0213|-1.0213	5|10	.|0.44086	.|T	.|0.13	-8.3888|-8.3888	5.8437|5.8437	0.18647|0.18647	0.7803:0.0:0.2197:0.0|0.7803:0.0:0.2197:0.0	.|.	.|230;230	.|P29016;P29016-2	.|CD1B_HUMAN;.	P|H	197|230	.|ENSP00000357150:Y230H	.|ENSP00000357150:Y230H	L|Y	-|-	2|1	0|0	CD1B|CD1B	156565982|156565982	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.977000|0.977000	0.68977|0.68977	0.587000|0.587000	0.23909|0.23909	0.280000|0.280000	0.22209|0.22209	0.533000|0.533000	0.62120|0.62120	CTA|TAC	.	.	none		0.587	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		G	158299358	A	G	158299358	3	3	23	1	0	0	0	0	1	0	0	0	2975	420	15	3	325	3	CD1B	1	158299358	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	38343	158299358	90951263	332	16788										
OR10R2	343406	hgsc.bcm.edu	37	chr1	158450382	158450382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttatctgtgtttcttatCtctgcattctgaggactatc	7	8	4	1	rs1418843	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158450382C>T	ENST00000368152.1	+	1	715	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	239			L -> F (in dbSNP:rs1418843).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTTTCTTATCTCTGCATTCT	0.428													C|||	2177	0.434704	0.3828	0.3833	5008	,	,		21090	0.5685		0.4573	False		,,,				2504	0.3804				p.L239F		Atlas-SNP	.											.	OR10R2	81	.	0			c.C715T						PASS	.	C	PHE/LEU	1721,2685	515.5+/-368.9	330,1061,812	144	125	132		715	-1.4	0.7	1	dbSNP_88	132	3725,4875	530.6+/-381.8	844,2037,1419	yes	missense	OR10R2	NM_001004472.1	22	1174,3098,2231	TT,TC,CC		43.314,39.0604,41.873	benign	239/336	158450382	5446,7560	2203	4300	6503	SO:0001583	missense	343406	exon1			TCTTATCTCTGCA	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.715C>T	1.37:g.158450382C>T	ENSP00000357134:p.Leu239Phe	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	212	131	0.617925	NM_001004472	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	CCDS30898.1	1035	0.4739010989010989	190	0.3861788617886179	140	0.3867403314917127	349	0.6101398601398601	356	0.46965699208443273	c	10.58	1.389376	0.25118	0.390604	0.43314	ENSG00000198965	ENST00000368152	T	0.00152	8.66	4.2	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.80722	P	0.0	B	0.31705	0.336	B	0.35073	0.195	T	0.01266	-1.1401	8	0.21540	T	0.41	.	1.3235	0.02121	0.2586:0.3163:0.2627:0.1624	rs1418843;rs17629511;rs60545544;rs1418843	239	Q8NGX6	O10R2_HUMAN	F	239	ENSP00000357134:L239F	ENSP00000357134:L239F	L	+	1	0	OR10R2	156717006	0.000000	0.05858	0.713000	0.30519	0.816000	0.46133	-6.666000	0.00057	-0.551000	0.06175	-0.152000	0.13540	CTC	C|0.554;N|0.000	.	strong		0.428	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		T	158450382	C	T	158450382	3	4	23	1	0	0	0	0	1	0	0	0	10917	913	32	2	717	2	OR10R2	1	158450382	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	151024	158450382	90800239	333	16789										
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549264	158549264	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatatcttagagggttacaGatggccaggaagcggtcata	14	6	2	2	rs863360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158549264G>A	ENST00000368150.1	-	1	425	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGGGTTACAGATGGCCAGGA	0.458													G|||	2516	0.502396	0.5741	0.4135	5008	,	,		22554	0.5853		0.4732	False		,,,				2504	0.4131				p.I142I		Atlas-SNP	.											OR10X1,NS,carcinoma,0,1	OR10X1	96	1	0			c.C426T						scavenged	.	G		2499,1907	627.1+/-394.8	679,1141,383	75	76	75		426	2.1	1	1	dbSNP_86	75	3826,4774	538.9+/-383.5	877,2072,1351	no	coding-synonymous	OR10X1	NM_001004477.1		1556,3213,1734	AA,AG,GG		44.4884,43.2819,48.6314		142/327	158549264	6325,6681	2203	4300	6503	SO:0001819	synonymous_variant	128367	exon1			GTTACAGATGGCC	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.426C>T	1.37:g.158549264G>A		Somatic	354	3	0.00847458		WXS	Illumina HiSeq	Phase_I	460	247	0.536957	NM_001004477	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																			G|0.489;A|0.511	0.511	strong		0.458	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549264	G	A	158549264	2	1	23	1	0	0	0	0	0	0	0	1	10922	932	33	2		2	OR10X1	1	158549264	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	98882	158549264	90701357	334	16790										
OR10X1	128367	hgsc.bcm.edu	37	chr1	158549420	158549420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcttggggacgatggtcagCgtatagcaggtctcagagaa	14	7	3	1	rs863361	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158549420C>T	ENST00000368150.1	-	1	269	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CGATGGTCAGCGTATAGCAGG	0.493													T|||	2596	0.518371	0.6324	0.4164	5008	,	,		21121	0.5853		0.4732	False		,,,				2504	0.4141				p.T90T		Atlas-SNP	.											OR10X1,face,carcinoma,-2,1	OR10X1	96	1	0			c.G270A						scavenged	.	T		2726,1680	510.9+/-367.7	824,1078,301	106	100	102		270	-7.3	0	1	dbSNP_86	102	3829,4771	612.1+/-395.9	876,2077,1347	no	coding-synonymous	OR10X1	NM_001004477.1		1700,3155,1648	TT,TC,CC		44.5233,38.1298,49.6002		90/327	158549420	6555,6451	2203	4300	6503	SO:0001819	synonymous_variant	128367	exon1			GGTCAGCGTATAG	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.270G>A	1.37:g.158549420C>T		Somatic	154	2	0.012987		WXS	Illumina HiSeq	Phase_I	257	154	0.599222	NM_001004477	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																			C|0.471;T|0.529	0.529	strong		0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549420	C	T	158549420	2	4	23	1	0	0	0	0	0	0	0	1	10922	755	27	1		1	OR10X1	1	158549420	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	156	158549420	90701201	335	16791										
OR10Z1	128368	hgsc.bcm.edu	37	chr1	158577109	158577109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattgtttatagtctaaggaAtagggctatacagacagctc	9	7	1	1	rs857685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158577109A>C	ENST00000361284.1	+	1	881	c.881A>C	c.(880-882)aAt>aCt	p.N294T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	294			N -> T (in dbSNP:rs857685). {ECO:0000269|Ref.3}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTCTAAGGAATAGGGCTATA	0.468													A|||	1213	0.242212	0.0658	0.2983	5008	,	,		21019	0.495		0.2634	False		,,,				2504	0.1585				p.N294T		Atlas-SNP	.											.	OR10Z1	99	.	0			c.A881C						PASS	.	A	THR/ASN	432,3974	210.2+/-230.7	16,400,1787	181	183	182		881	5.2	0.9	1	dbSNP_86	182	2170,6430	370.0+/-335.7	290,1590,2420	yes	missense	OR10Z1	NM_001004478.1	65	306,1990,4207	CC,CA,AA		25.2326,9.8048,20.0062	probably-damaging	294/314	158577109	2602,10404	2203	4300	6503	SO:0001583	missense	128368	exon1			TAAGGAATAGGGC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.881A>C	1.37:g.158577109A>C	ENSP00000354707:p.Asn294Thr	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	224	129	0.575893	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	595	0.2724358974358974	38	0.07723577235772358	101	0.27900552486187846	252	0.4405594405594406	204	0.2691292875989446	A	12.87	2.067421	0.36470	0.098048	0.252326	ENSG00000198967	ENST00000361284	T	0.47528	0.84	5.19	5.19	0.71726	.	0.000000	0.40818	N	0.001014	T	0.48607	0.1509	L	0.34521	1.04	0.53688	P	2.6999999999999247E-5	D	0.89917	1.0	D	0.78314	0.991	T	0.57382	-0.7821	9	0.87932	D	0	.	14.1654	0.65473	1.0:0.0:0.0:0.0	rs857685;rs52811497;rs857685	294	Q8NGY1	O10Z1_HUMAN	T	294	ENSP00000354707:N294T	ENSP00000354707:N294T	N	+	2	0	OR10Z1	156843733	1.000000	0.71417	0.901000	0.35422	0.564000	0.35744	5.936000	0.70153	2.170000	0.68504	0.528000	0.53228	AAT	A|0.766;C|0.234	0.234	strong		0.468	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		C	158577109	A	C	158577109	3	2	23	1	0	0	0	0	1	0	0	0	10923	101	4	5	883	5	OR10Z1	1	158577109	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	27689	158577109	90673512	336	16792										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158624528	158624528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caactccctccactggtgcaGcctgttgttgctgaataaaa	8	12	0	1	rs35948326	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158624528G>T	ENST00000368147.4	-	21	3089	c.2909C>A	c.(2908-2910)gCt>gAt	p.A970D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	970			A -> D (in dbSNP:rs35948326).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTGGTGCAGCCTGTTGTTG	0.517													G|||	71	0.0141773	0.0	0.0389	5008	,	,		16229	0.0		0.0408	False		,,,				2504	0.0031				p.A970D		Atlas-SNP	.											SPTA1,NS,carcinoma,-1,1	SPTA1	720	1	0			c.C2909A	GRCh37	CM930690	SPTA1	M	rs35948326	PASS	.	G	ASP/ALA	28,3874		0,28,1923	60	59	59	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2909	5.2	1	1	dbSNP_126	59	413,7891		9,395,3748	yes	missense	SPTA1	NM_003126.2	126	9,423,5671	TT,TG,GG		4.9735,0.7176,3.613	benign	970/2420	158624528	441,11765	1951	4152	6103	SO:0001583	missense	6708	exon21			GGTGCAGCCTGTT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2909C>A	1.37:g.158624528G>T	ENSP00000357129:p.Ala970Asp	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	38	0.0173992673992674	0	0.0	14	0.03867403314917127	0	0.0	24	0.0316622691292876	G	10.91	1.483079	0.26598	0.007176	0.049735	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56275	0.63;0.47	5.22	5.22	0.72569	Src homology-3 domain (1);	0.271352	0.19680	N	0.108540	T	0.13884	0.0336	N	0.12746	0.255	0.39397	A	0.96652	B	0.06786	0.001	B	0.10450	0.005	T	0.10941	-1.0608	9	0.12430	T	0.62	.	7.7628	0.28961	0.1671:0.0:0.8329:0.0	rs35948326;rs61820504	970	P02549	SPTA1_HUMAN	D	970	ENSP00000357130:A970D;ENSP00000357129:A970D	ENSP00000357129:A970D	A	-	2	0	SPTA1	156891152	1.000000	0.71417	0.980000	0.43619	0.587000	0.36485	5.364000	0.66110	2.732000	0.93576	0.591000	0.81541	GCT	G|0.972;T|0.028	0.028	strong		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158624528	G	T	158624528	3	4	23	1	0	0	0	0	1	0	0	0	15115	971	34	4	4478	4	SPTA1	1	158624528	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	47419	158624528	90626093	337	16793										
OR6K3	391114	hgsc.bcm.edu	37	chr1	158687896	158687896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcactgttgattggtttcCgctctccatatttctagtag	8	9	3	1	rs857705	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158687896C>T	ENST00000368146.1	-	1	57	c.58G>A	c.(58-60)Gga>Aga	p.G20R	OR6K3_ENST00000368145.1_Missense_Mutation_p.G4R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	20			G -> R (in dbSNP:rs857705).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GATTGGTTTCCGCTCTCCATA	0.388													c|||	1127	0.22504	0.2943	0.1614	5008	,	,		16757	0.1518		0.2227	False		,,,				2504	0.2546				p.G4R		Atlas-SNP	.											.	OR6K3	101	.	0			c.G10A						PASS	.	T	ARG/GLY	1248,3158	420.2+/-338.9	176,896,1131	48	47	48		10	-2.9	0	1	dbSNP_86	48	1756,6844	312.7+/-311.0	164,1428,2708	yes	missense	OR6K3	NM_001005327.2	125	340,2324,3839	TT,TC,CC		20.4186,28.325,23.097	benign	4/316	158687896	3004,10002	2203	4300	6503	SO:0001583	missense	391114	exon1			GGTTTCCGCTCTC	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.58G>A	1.37:g.158687896C>T	ENSP00000357128:p.Gly20Arg	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	185	62	0.335135	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		463	0.211996336996337	145	0.29471544715447157	60	0.16574585635359115	81	0.14160839160839161	177	0.23350923482849603	c	4.440	0.081406	0.08533	0.28325	0.204186	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00484	7.08;7.08	3.89	-2.94	0.05581	.	.	.	.	.	T	0.00073	0.0002	N	0.25144	0.715	0.80722	P	0.0	B	0.11235	0.004	B	0.06405	0.002	T	0.11060	-1.0603	8	0.17369	T	0.5	.	2.3035	0.04168	0.1216:0.3478:0.1196:0.411	rs857705;rs52837960;rs58065485;rs857705	20	Q8NGY3	OR6K3_HUMAN	R	4;20	ENSP00000357127:G4R;ENSP00000357128:G20R	ENSP00000357127:G4R	G	-	1	0	OR6K3	156954520	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.046000	0.03525	-0.465000	0.06953	-1.804000	0.00617	GGA	C|0.776;T|0.224	0.224	strong		0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				T	158687896	C	T	158687896	3	4	23	1	0	0	0	0	1	0	0	0	11203	661	23	1	939	1	OR6K3	1	158687896	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63368	158687896	90562725	338	16794										
MNDA	4332	hgsc.bcm.edu	37	chr1	158817521	158817521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaatcttcttttgcagaaaAgcgtacacaagaagaacaca	6	8	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:158817521A>G	ENST00000368141.4	+	6	1252	c.991A>G	c.(991-993)Agc>Ggc	p.S331G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	331	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTTGCAGAAAAGCGTACACAA	0.368																																					p.S331G		Atlas-SNP	.											MNDA,colon,carcinoma,0,2	MNDA	147	2	0			c.A991G						PASS	.						95	93	94					1																	158817521		2203	4300	6503	SO:0001583	missense	4332	exon6			CAGAAAAGCGTAC	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.991A>G	1.37:g.158817521A>G	ENSP00000357123:p.Ser331Gly	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	120	5	0.0416667	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.768|4.768	0.142801|0.142801	0.09083|0.09083	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	T|T	0.19394|0.14766	2.15|2.48	4.15|4.15	0.259|0.259	0.15583|0.15583	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|1.196580	.|0.06409	.|N	.|0.720183	T|T	0.02727|0.02727	0.0082|0.0082	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999996|0.999996	.|B	.|0.33777	.|0.425	.|B	.|0.33121	.|0.158	T|T	0.45205|0.45205	-0.9277|-0.9277	7|10	0.72032|0.40728	D|T	0.01|0.16	0.0539|0.0539	5.0869|5.0869	0.14687|0.14687	0.4576:0.3654:0.0:0.1771|0.4576:0.3654:0.0:0.1771	.|.	.|331	.|P41218	.|MNDA_HUMAN	R|G	36|331	ENSP00000406800:K36R|ENSP00000357123:S331G	ENSP00000406800:K36R|ENSP00000357123:S331G	K|S	+|+	2|1	0|0	MNDA|MNDA	157084145|157084145	0.104000|0.104000	0.21937|0.21937	0.136000|0.136000	0.22124|0.22124	0.082000|0.082000	0.17680|0.17680	0.152000|0.152000	0.16302|0.16302	-0.064000|-0.064000	0.13043|0.13043	0.460000|0.460000	0.39030|0.39030	AAG|AGC	.	.	none		0.368	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		G	158817521	A	G	158817521	3	3	23	1	0	0	0	0	1	0	0	0	9676	72	3	3	1009	3	MNDA	1	158817521	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	129625	158817521	90433100	339	16795										
VANGL2	57216	hgsc.bcm.edu	37	chr1	160385934	160385934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatccaggctcccggggagCccctgctggacaatgagtcc	12	15	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:160385934C>T	ENST00000368061.2	+	3	628	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	52					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCGGGGAGCCCCTGCTGGA	0.657																																					p.P52S		Atlas-SNP	.											VANGL2,NS,carcinoma,-2,1	VANGL2	83	1	0			c.C154T						scavenged	.						37	44	41					1																	160385934		2203	4299	6502	SO:0001583	missense	57216	exon3			GGGGAGCCCCTGC	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.154C>T	1.37:g.160385934C>T	ENSP00000357040:p.Pro52Ser	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	267	5	0.0187266	NM_020335	D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677009	0.88445	.	.	ENSG00000162738	ENST00000368061	D	0.81579	-1.51	4.55	4.55	0.56014	.	0.069721	0.56097	D	0.000024	T	0.63954	0.2555	L	0.49350	1.555	0.58432	D	0.999998	B	0.20261	0.043	B	0.22386	0.039	T	0.61978	-0.6951	10	0.17369	T	0.5	-36.3007	14.8376	0.70194	0.0:1.0:0.0:0.0	.	52	Q9ULK5	VANG2_HUMAN	S	52	ENSP00000357040:P52S	ENSP00000357040:P52S	P	+	1	0	VANGL2	158652558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.398000	0.66308	2.354000	0.79902	0.461000	0.40582	CCC	.	.	none		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		T	160385934	C	T	160385934	3	4	23	1	0	0	0	0	1	0	0	0	17117	739	26	2	160	2	VANGL2	1	160385934	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1568413	160385934	88864687	340	16796										
SLAMF1	6504	hgsc.bcm.edu	37	chr1	160580549	160580549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctggtgtcagctctctgGaagtgtcacactagcataga	10	10	4	1	rs3796504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:160580549G>T	ENST00000302035.6	-	7	1346	c.997C>A	c.(997-999)Cca>Aca	p.P333T	SLAMF1_ENST00000538290.1_3'UTR|SLAMF1_ENST00000235739.5_Missense_Mutation_p.P303T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	333			P -> T (in dbSNP:rs3796504).		lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGCTCTCTGGAAGTGTCACA	0.458													G|||	198	0.0395367	0.0015	0.0648	5008	,	,		23451	0.005		0.0835	False		,,,				2504	0.0634				p.P333T		Atlas-SNP	.											.	SLAMF1	74	.	0			c.C997A						PASS	.	G	THR/PRO	77,4329	67.6+/-105.2	2,73,2128	189	179	182		997	4.1	1	1	dbSNP_107	182	764,7836	181.8+/-230.4	35,694,3571	yes	missense	SLAMF1	NM_003037.2	38	37,767,5699	TT,TG,GG		8.8837,1.7476,6.4662	probably-damaging	333/336	160580549	841,12165	2203	4300	6503	SO:0001583	missense	6504	exon7			TCTCTGGAAGTGT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.997C>A	1.37:g.160580549G>T	ENSP00000306190:p.Pro333Thr	Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	416	233	0.560096	NM_003037	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	91	0.041666666666666664	1	0.0020325203252032522	28	0.07734806629834254	3	0.005244755244755245	59	0.07783641160949868	G	19.02	3.746407	0.69418	0.017476	0.088837	ENSG00000117090	ENST00000302035;ENST00000235739	T;T	0.25912	2.38;1.77	4.08	4.08	0.47627	.	0.637739	0.13461	N	0.386171	T	0.29620	0.0739	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03202	-1.1061	10	0.72032	D	0.01	-13.9014	12.092	0.53733	0.0:0.0:1.0:0.0	rs3796504;rs17394334;rs61468578;rs3796504	333	Q13291	SLAF1_HUMAN	T	333;303	ENSP00000306190:P333T;ENSP00000235739:P303T	ENSP00000235739:P303T	P	-	1	0	SLAMF1	158847173	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	3.668000	0.54554	2.539000	0.85634	0.655000	0.94253	CCA	G|0.945;T|0.055	0.055	strong		0.458	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			T	160580549	G	T	160580549	3	4	23	1	0	0	0	0	1	0	0	0	14367	1174	41	4	14	4	SLAMF1	1	160580549	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	194615	160580549	88670072	341	16797										
SLAMF1	6504	hgsc.bcm.edu	37	chr1	160616703	160616703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagggagagaaacagcacGaaggtcaaggagaggagccc	16	9	1	2	rs2295612	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:160616703G>T	ENST00000302035.6	-	1	382	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SLAMF1_ENST00000538290.1_Missense_Mutation_p.F11L|SLAMF1_ENST00000235739.5_Missense_Mutation_p.F11L|SLAMF1_ENST00000355199.3_Missense_Mutation_p.F11L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	11			F -> L (in dbSNP:rs2295612).		lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.F11F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAAACAGCACGAAGGTCAAGG	0.567													G|||	493	0.0984425	0.0061	0.2075	5008	,	,		19271	0.0347		0.2167	False		,,,				2504	0.09				p.F11L		Atlas-SNP	.											SLAMF1,colon,carcinoma,0,1	SLAMF1	74	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C33A						PASS	.	G	LEU/PHE	158,4248	105.6+/-144.1	3,152,2048	68	62	64		33	0.8	0	1	dbSNP_100	64	1748,6852	308.2+/-308.8	190,1368,2742	yes	missense	SLAMF1	NM_003037.2	22	193,1520,4790	TT,TG,GG		20.3256,3.586,14.6548	benign	11/336	160616703	1906,11100	2203	4300	6503	SO:0001583	missense	6504	exon1			CAGCACGAAGGTC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.33C>A	1.37:g.160616703G>T	ENSP00000306190:p.Phe11Leu	Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	285	169	0.592982	NM_003037	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	267	0.12225274725274725	6	0.012195121951219513	77	0.212707182320442	18	0.03146853146853147	166	0.21899736147757257	G	0.031	-1.336977	0.01287	0.03586	0.203256	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	3.84	0.793	0.18632	Signaling lymphocytic activation molecule, N-terminal (2);	1.960650	0.02772	N	0.119850	T	0.07548	0.0190	N	0.20685	0.6	0.80722	P	0.0	B;B	0.12630	0.006;0.002	B;B	0.14023	0.01;0.006	T	0.07539	-1.0767	9	0.05833	T	0.94	-13.3109	5.3222	0.15887	0.2009:0.0:0.632:0.1672	rs2295612;rs58261892;rs2295612	11;11	B4E2E4;Q13291	.;SLAF1_HUMAN	L	11	ENSP00000306190:F11L;ENSP00000235739:F11L;ENSP00000438406:F11L;ENSP00000347333:F11L	ENSP00000235739:F11L	F	-	3	2	SLAMF1	158883327	0.062000	0.20869	0.006000	0.13384	0.001000	0.01503	-0.151000	0.10175	-0.038000	0.13624	-1.119000	0.02030	TTC	G|0.877;T|0.123	0.123	strong		0.567	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			T	160616703	G	T	160616703	3	4	23	1	0	0	0	0	1	0	0	0	14367	1049	37	4	1002	4	SLAMF1	1	160616703	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36154	160616703	88633918	342	16798										
USP21	27005	hgsc.bcm.edu	37	chr1	161132777	161132777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttgaaatcaaccgccgagGccgccgggctccaccgatac	10	17	1	1	rs17356051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161132777G>A	ENST00000289865.8	+	6	1183	c.962G>A	c.(961-963)gGc>gAc	p.G321D	USP21_ENST00000368002.3_Missense_Mutation_p.G321D|USP21_ENST00000368001.1_Missense_Mutation_p.G321D	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	321	USP.		G -> D (in dbSNP:rs17356051).		histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACCGCCGAGGCCGCCGGGCT	0.582													G|||	107	0.0213658	0.0008	0.0231	5008	,	,		16906	0.0		0.0746	False		,,,				2504	0.0153				p.G321D		Atlas-SNP	.											.	USP21	63	.	0			c.G962A						PASS	.	G	ASP/GLY,ASP/GLY	46,4360	46.7+/-81.2	0,46,2157	56	64	61		962,962	3.8	1	1	dbSNP_123	61	504,8096	143.9+/-199.8	11,482,3807	yes	missense,missense	USP21	NM_001014443.2,NM_012475.4	94,94	11,528,5964	AA,AG,GG		5.8605,1.044,4.2288	possibly-damaging,possibly-damaging	321/566,321/566	161132777	550,12456	2203	4300	6503	SO:0001583	missense	27005	exon6			GCCGAGGCCGCCG	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.962G>A	1.37:g.161132777G>A	ENSP00000289865:p.Gly321Asp	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	221	91	0.411765	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	66	0.03021978021978022	0	0.0	11	0.03038674033149171	0	0.0	55	0.07255936675461741	G	15.82	2.945230	0.53079	0.01044	0.058605	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.29917	1.55;1.55;1.55	4.72	3.8	0.43715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.377030	0.03429	U	0.207571	T	0.29355	0.0731	L	0.41079	1.255	0.41560	D	0.988622	D	0.76494	0.999	D	0.67231	0.95	T	0.47071	-0.9145	10	0.10111	T	0.7	.	12.152	0.54055	0.0853:0.0:0.9147:0.0	rs17356051	321	Q9UK80	UBP21_HUMAN	D	321	ENSP00000356981:G321D;ENSP00000289865:G321D;ENSP00000356980:G321D	ENSP00000289865:G321D	G	+	2	0	USP21	159399401	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.474000	0.53129	1.202000	0.43218	0.455000	0.32223	GGC	G|0.960;A|0.040	0.040	strong		0.582	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			A	161132777	G	A	161132777	3	1	23	1	0	0	0	0	1	0	0	0	17050	1203	42	2	980	2	USP21	1	161132777	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	516074	161132777	88117844	343	16799										
B4GALT3	8703	hgsc.bcm.edu	37	chr1	161141691	161141691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgttgcagcatctcttgaCggaaggcttgggaggaacca	15	9	1	1	rs111614721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161141691C>T	ENST00000319769.5	-	8	1319	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R366H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	366					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R366H(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CATCTCTTGACGGAAGGCTTG	0.607													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		17177	0.0		0.0	False		,,,				2504	0.0				p.R366H		Atlas-SNP	.											B4GALT3,NS,carcinoma,0,1	B4GALT3	39	1	1	Substitution - Missense(1)	lung(1)	c.G1097A						scavenged	.	C	HIS/ARG,HIS/ARG,HIS/ARG	25,4381	30.8+/-60.4	0,25,2178	61	69	66		1097,1097,1097	5.3	1	1	dbSNP_132	66	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	B4GALT3	NM_001199873.1,NM_001199874.1,NM_003779.3	29,29,29	0,26,6477	TT,TC,CC		0.0116,0.5674,0.1999	probably-damaging,probably-damaging,probably-damaging	366/394,366/394,366/394	161141691	26,12980	2203	4300	6503	SO:0001583	missense	8703	exon8			TCTTGACGGAAGG	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.1097G>A	1.37:g.161141691C>T	ENSP00000320965:p.Arg366His	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	187	6	0.0320856	NM_003779	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.28	3.077763	0.55753	0.005674	1.16E-4	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.54071	0.59;0.59	5.28	5.28	0.74379	.	0.161578	0.42053	D	0.000766	T	0.40067	0.1102	N	0.22421	0.69	0.42130	D	0.991461	D	0.64830	0.994	P	0.49085	0.6	T	0.45205	-0.9277	10	0.87932	D	0	.	17.8577	0.88771	0.0:1.0:0.0:0.0	.	366	O60512	B4GT3_HUMAN	H	366;343;366;366	ENSP00000320965:R366H;ENSP00000356977:R366H	ENSP00000320965:R366H	R	-	2	0	B4GALT3	159408315	0.748000	0.28294	1.000000	0.80357	0.997000	0.91878	0.931000	0.28871	2.746000	0.94184	0.655000	0.94253	CGT	C|0.998;T|0.002	0.002	strong		0.607	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		T	161141691	C	T	161141691	3	4	23	1	0	0	0	0	1	0	0	0	1272	536	19	1	88	1	B4GALT3	1	161141691	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8914	161141691	88108930	344	16800										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518214	161518214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccttcatcaactcaccgaTatggacttctagctgcaccg	6	16	4	0	rs148181339	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161518214T>C	ENST00000436743.1	-	4	470	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.I141V|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.I142V|FCGR3A_ENST00000540048.1_Missense_Mutation_p.I106V	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	106				I -> V (in Ref. 3; BAD96988/BAD97015). {ECO:0000305}.	Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTCACCGATATGGACTTCT	0.483																																					p.I142V		Atlas-SNP	.											FCGR3A,NS,carcinoma,+2,2	FCGR3A	38	2	0			c.A424G						PASS	.						83	81	82					1																	161518214		2203	4296	6499	SO:0001583	missense	2214	exon3			CACCGATATGGAC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.316A>G	1.37:g.161518214T>C	ENSP00000416607:p.Ile106Val	Somatic	398	0	0		WXS	Illumina HiSeq	Phase_I	626	133	0.21246	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	522|522	0.23901098901098902|0.23901098901098902	75|75	0.1524390243902439|0.1524390243902439	115|115	0.31767955801104975|0.31767955801104975	185|185	0.32342657342657344|0.32342657342657344	147|147	0.19393139841688653|0.19393139841688653	T|T	6.273|6.273	0.418469|0.418469	0.11870|0.11870	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.03889	.|4.95;4.94;4.98;4.98;4.98;3.77	4.43|4.43	-8.86|-8.86	0.00795|0.00795	.|.	4.323350|4.323350	0.00674|0.00674	N|N	0.000659|0.000659	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.35699|0.35699	-0.9778|-0.9778	6|10	.|0.06236	.|T	.|0.91	.|.	8.7015|8.7015	0.34329|0.34329	0.0:0.1887:0.1973:0.614|0.0:0.1887:0.1973:0.614	.|.	.|106;141;106	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	M|V	122|142;141;106;106;106;105	.|ENSP00000356946:I142V;ENSP00000392047:I141V;ENSP00000416607:I106V;ENSP00000356944:I106V;ENSP00000444971:I106V;ENSP00000396567:I105V	.|ENSP00000356944:I106V	I|I	-|-	3|1	3|0	FCGR3A|FCGR3A	159784838|159784838	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-5.685000|-5.685000	0.00105|0.00105	-3.274000|-3.274000	0.00199|0.00199	-0.326000|-0.326000	0.08463|0.08463	ATA|ATC	.	.	weak		0.483	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		C	161518214	T	C	161518214	3	2	23	1	0	0	0	0	1	0	0	0	5784	1406	49	2	460	2	FCGR3A	1	161518214	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	376523	161518214	87732407	345	16801										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518314	161518314	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcgtcaatgaagtagctCgaggcctggcttgagatgag	15	8	1	3	rs114535887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161518314C>T	ENST00000436743.1	-	4	370	c.216G>A	c.(214-216)tcG>tcA	p.S72S	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Silent_p.S107S|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Silent_p.S108S|FCGR3A_ENST00000540048.1_Silent_p.S72S	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	72	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAAGTAGCTCGAGGCCTGGC	0.547													C|||	95	0.0189696	0.003	0.0216	5008	,	,		33212	0.0		0.0497	False		,,,				2504	0.0266				p.S108S		Atlas-SNP	.											.	FCGR3A	38	.	0			c.G324A						PASS	.	C	,,,,	50,4356	48.9+/-83.8	0,50,2153	301	287	292		324,321,216,216,213	-1.1	0	1	dbSNP_132	292	454,8146	135.1+/-192.4	0,454,3846	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FCGR3A	NM_000569.6,NM_001127592.1,NM_001127593.1,NM_001127595.1,NM_001127596.1	,,,,	0,504,5999	TT,TC,CC		5.2791,1.1348,3.8751	,,,,	108/291,107/290,72/255,72/255,71/254	161518314	504,12502	2203	4300	6503	SO:0001819	synonymous_variant	2214	exon3			GTAGCTCGAGGCC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.216G>A	1.37:g.161518314C>T		Somatic	590	1	0.00169492		WXS	Illumina HiSeq	Phase_I	952	246	0.258403	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	CCDS44266.1	50	0.022893772893772892	3	0.006097560975609756	9	0.024861878453038673	0	0.0	38	0.05013192612137203	C	3.603	-0.081182	0.07141	0.011348	0.052791	ENSG00000203747	ENST00000426740	.	.	.	4.43	-1.09	0.09904	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35251	-0.9796	4	.	.	.	.	3.0365	0.06123	0.0953:0.4015:0.2855:0.2177	.	.	.	.	Q	89	.	.	R	-	2	0	FCGR3A	159784938	0.066000	0.20996	0.048000	0.18961	0.003000	0.03518	0.274000	0.18680	-0.010000	0.14271	-0.964000	0.02622	CGA	C|0.960;T|0.040	0.040	strong		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		T	161518314	C	T	161518314	2	4	23	1	0	0	0	0	0	0	0	1	5784	871	31	1		1	FCGR3A	1	161518314	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	100	161518314	87732307	346	16802										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518333	161518333	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgaggcctggcttgagatgAggctctcattgtgaaaccac	12	10	1	3	rs10127939	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161518333A>C	ENST00000436743.1	-	4	351	c.197T>G	c.(196-198)cTc>cGc	p.L66R	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.L101R|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.L102R|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L66R	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	66	Ig-like C2-type 1.		L -> H (in IMD20; dbSNP:rs10127939). {ECO:0000269|PubMed:23006327, ECO:0000269|PubMed:8608639, ECO:0000269|PubMed:8609432, ECO:0000269|PubMed:8874200}.|L -> R (in dbSNP:rs10127939). {ECO:0000269|PubMed:8609432}.		Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTTGAGATGAGGCTCTCATT	0.557													A|||	195	0.0389377	0.0651	0.0187	5008	,	,		32243	0.0		0.0517	False		,,,				2504	0.045				p.L102R		Atlas-SNP	.											.	FCGR3A	38	.	0			c.T305G	GRCh37	CM962396|CM963029	FCGR3A	M	rs10127939	PASS	.						303	293	296					1																	161518333		2203	4300	6503	SO:0001583	missense	2214	exon3			GAGATGAGGCTCT	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.197T>G	1.37:g.161518333A>C	ENSP00000416607:p.Leu66Arg	Somatic	596	1	0.00167785		WXS	Illumina HiSeq	Phase_I	903	365	0.404208	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	79|79	0.036172161172161175|0.036172161172161175	26|26	0.052845528455284556|0.052845528455284556	9|9	0.024861878453038673|0.024861878453038673	0|0	0.0|0.0	44|44	0.05804749340369393|0.05804749340369393	A|A	9.586|9.586	1.124988|1.124988	0.20959|0.20959	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.13196|.	2.61;2.61;2.61;2.61;2.61;2.61|.	4.43|4.43	0.726|0.726	0.18248|0.18248	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.842078|.	0.09930|.	N|.	0.737349|.	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.39633|0.39633	1.23|1.23	0.09310|0.09310	N|N	1|1	B;P;B|.	0.45569|.	0.097;0.861;0.043|.	B;B;B|.	0.37692|.	0.096;0.256;0.103|.	T|T	0.29579|0.29579	-1.0007|-1.0007	10|5	0.49607|.	T|.	0.09|.	.|.	3.8902|3.8902	0.09116|0.09116	0.6184:0.1841:0.1975:0.0|0.6184:0.1841:0.1975:0.0	rs10127939|rs10127939	66;101;66|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	R|A	102;101;66;66;66;65|83	ENSP00000356946:L102R;ENSP00000392047:L101R;ENSP00000416607:L66R;ENSP00000356944:L66R;ENSP00000444971:L66R;ENSP00000396567:L65R|.	ENSP00000356944:L66R|.	L|S	-|-	2|1	0|0	FCGR3A|FCGR3A	159784957|159784957	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.414000|-0.414000	0.07114|0.07114	0.016000|0.016000	0.14998|0.14998	-0.353000|-0.353000	0.07706|0.07706	CTC|TCA	T|0.013;C|0.046;A|0.941	0.046	strong		0.557	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		C	161518333	A	C	161518333	3	2	23	1	0	0	0	0	1	0	0	0	5784	304	11	5	579	5	FCGR3A	1	161518333	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19	161518333	87732288	347	16803										
FCGR2C	2214	hgsc.bcm.edu	37	chr1	161565381	161565381	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaggctgcccaatttgagAtgagtaatcccagccatctc	9	11	1	3	rs76277413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161565381A>G	ENST00000540048.1	-	2	94				RP11-25K21.6_ENST00000537821.2_RNA|FCGR2C_ENST00000473530.2_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2C_ENST00000543859.1_RNA			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAATTTGAGATGAGTAATCC	0.478													.|||	287	0.0573083	0.0166	0.085	5008	,	,		17686	0.001		0.1431	False		,,,				2504	0.0624				.		Atlas-SNP	.											.	FCGR2C	2	.	0			c.798+1A>G						PASS	.	G		77,4305		9,59,2123	256	243	247			2.1	0.6	1	dbSNP_131	247	808,7784		137,534,3625	no	splice-5	FCGR2C	NM_201563.4		146,593,5748	GG,GA,AA		9.4041,1.7572,6.8213			161565381	885,12089	2191	4296	6487	SO:0001627	intron_variant	9103	exon6			TTTGAGATGAGTA	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+34776T>C	1.37:g.161565381A>G		Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	346	195	0.563584	NM_201563	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Splice_Site	SNP	ENST00000540048.1	37		115	0.052655677655677656	3	0.006097560975609756	22	0.06077348066298342	1	0.0017482517482517483	89	0.11741424802110818	-	7.021	0.558760	0.13436	0.017572	0.094041	ENSG00000244682	ENST00000543859	.	.	.	2.13	2.13	0.27403	.	.	.	.	.	T	0.36608	0.0973	.	.	.	0.45015	D	0.998035	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	.	4.9939	0.14228	0.1795:0.0:0.8205:0.0	.	.	.	.	V	13	.	.	M	+	1	0	FCGR2C	159832005	1.000000	0.71417	0.643000	0.29450	0.003000	0.03518	2.075000	0.41538	0.470000	0.27294	-0.528000	0.04320	ATG	A|0.922;G|0.078	0.078	strong		0.478	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		G	161565381	A	G	161565381	1	3	23	0	1	0	0	0	0	0	0	0	5783	347	12	2		2	FCGR2C	1	161565381	Intron	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47048	161565381	87685240	348	16804										
FCGR3B	2214	hgsc.bcm.edu	37	chr1	161596072	161596072	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgatgaaaatacttcctgTctttgccattctgtaaatat	5	7	2	2	rs71632959		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161596072T>C	ENST00000540048.1	-	2	94				FCGR3B_ENST00000294800.3_Missense_Mutation_p.D147G|FCGR3B_ENST00000531221.1_Missense_Mutation_p.D183G|FCGR3B_ENST00000367964.2_Missense_Mutation_p.D147G|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATACTTCCTGTCTTTGCCATT	0.458																																					p.D183G		Atlas-SNP	.											FCGR3B,colon,carcinoma,-1,2	FCGR3B	35	2	0			c.A548G						scavenged	.						149	146	147					1																	161596072		2192	4299	6491	SO:0001627	intron_variant	2215	exon4			TTCCTGTCTTTGC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4085A>G	1.37:g.161596072T>C		Somatic	235	2	0.00851064		WXS	Illumina HiSeq	Phase_I	662	29	0.0438066	NM_001244753	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		.	.	.	.	.	.	.	.	.	.	-	0.009	-1.847230	0.00568	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221	T;T;T	0.12465	2.68;2.68;2.68	2.35	0.00415	0.14057	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	6.555110	0.00166	N	0.000000	T	0.00666	0.0022	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41395	-0.9511	10	0.09338	T	0.73	.	4.6205	0.12447	0.0:0.4114:0.4391:0.1494	.	147	O75015	FCG3B_HUMAN	G	147;147;183	ENSP00000356941:D147G;ENSP00000294800:D147G;ENSP00000433642:D183G	ENSP00000294800:D147G	D	-	2	0	FCGR3B	159862696	0.000000	0.05858	0.043000	0.18650	0.061000	0.15899	-0.679000	0.05203	-0.519000	0.06444	-1.160000	0.01791	GAC	T|0.500;C|0.500	0.500	weak		0.458	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		C	161596072	T	C	161596072	1	2	23	0	1	0	0	0	0	0	0	0	5785	1667	58	2		2	FCGR3B	1	161596072	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30691	161596072	87654549	349	16805										
FCGR3B	2214	hgsc.bcm.edu	37	chr1	161599571	161599571	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccttcatcaactcaccgaTatggacttctagctgcaccg	6	16	4	0	rs2290834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161599571T>C	ENST00000540048.1	-	2	94				FCGR3B_ENST00000294800.3_Missense_Mutation_p.I106V|FCGR3B_ENST00000531221.1_Missense_Mutation_p.I142V|FCGR3B_ENST00000367964.2_Missense_Mutation_p.I106V|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTCACCGATATGGACTTCT	0.478																																					p.I142V		Atlas-SNP	.											FCGR3B,NS,carcinoma,+2,1	FCGR3B	35	1	0			c.A424G						scavenged	.						24	26	25					1																	161599571		2124	4279	6403	SO:0001627	intron_variant	2215	exon3			CACCGATATGGAC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+586A>G	1.37:g.161599571T>C		Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	359	40	0.111421	NM_001244753	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	1.794|1.794	-0.478839|-0.478839	0.04414|0.04414	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.02787|.	4.91;4.91;5.01;4.16|.	2.79|2.79	-5.57|-5.57	0.02521|0.02521	.|.	4.037030|.	0.00559|.	N|.	0.000262|.	T|T	0.02727|0.02727	0.0082|0.0082	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.16660|0.16660	-1.0395|-1.0395	9|4	0.20046|.	T|.	0.44|.	.|.	3.2984|3.2984	0.06974|0.06974	0.1208:0.478:0.2427:0.1584|0.1208:0.478:0.2427:0.1584	.|.	106|.	O75015|.	FCG3B_HUMAN|.	V|C	106;106;142;89|126	ENSP00000356941:I106V;ENSP00000294800:I106V;ENSP00000433642:I142V;ENSP00000437084:I89V|.	ENSP00000294800:I106V|.	I|Y	-|-	1|2	0|0	FCGR3B|FCGR3B	159866195|159866195	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-7.325000|-7.325000	0.00039|0.00039	-3.260000|-3.260000	0.00202|0.00202	0.319000|0.319000	0.21371|0.21371	ATC|TAT	.	.	weak		0.478	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		C	161599571	T	C	161599571	1	2	23	0	1	0	0	0	0	0	0	0	5785	1406	49	2		2	FCGR3B	1	161599571	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3499	161599571	87651050	350	16806										
FCRLA	84824	hgsc.bcm.edu	37	chr1	161681780	161681780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctgaaccccaagcaggaAgccccatgaccctgagttgt	10	14	0	3	rs2275603	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161681780A>G	ENST00000236938.6	+	4	849	c.607A>G	c.(607-609)Agc>Ggc	p.S203G	FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.S52G|FCRLA_ENST00000540521.1_Missense_Mutation_p.S69G|FCRLA_ENST00000546024.1_Missense_Mutation_p.S114G|FCRLA_ENST00000367957.2_Missense_Mutation_p.S63G|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.S192G|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S97G|FCRLA_ENST00000367959.2_Missense_Mutation_p.S209G|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367953.3_Missense_Mutation_p.S192G	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	186	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAAGCAGGAAGCCCCATGAC	0.522													G|||	2389	0.477037	0.764	0.4553	5008	,	,		17754	0.5734		0.2078	False		,,,				2504	0.2822				p.S209G		Atlas-SNP	.											.	FCRLA	101	.	0			c.A625G						PASS	.	G	GLY/SER,GLY/SER,GLY/SER,,GLY/SER,,GLY/SER	2903,1503	477.0+/-357.8	980,943,280	116	145	135		625,340,205,,187,,607	-8.4	0	1	dbSNP_100	135	1882,6718	726.9+/-406.6	220,1442,2638	yes	missense,missense,missense,intron,missense,intron,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	56,56,56,,56,,56	1200,2385,2918	GG,GA,AA		21.8837,34.1126,36.7907	benign,benign,benign,,benign,,benign	209/383,114/288,69/243,,63/237,,203/377	161681780	4785,8221	2203	4300	6503	SO:0001583	missense	84824	exon5			GCAGGAAGCCCCA	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.607A>G	1.37:g.161681780A>G	ENSP00000236938:p.Ser203Gly	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	208	76	0.365385	NM_001184866	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	977	0.44734432234432236	357	0.725609756097561	143	0.39502762430939226	317	0.5541958041958042	160	0.21108179419525067	G	0.009	-1.843804	0.00568	0.658874	0.218837	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.57	-8.4	0.00965	.	0.922351	0.09125	N	0.845187	T	0.02610	0.0079	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.15484	0.001;0.013;0.001;0.0;0.001	T	0.46105	-0.9215	9	0.08837	T	0.75	.	20.1836	0.98210	0.8865:0.0:0.1135:0.0	rs2275603;rs60711230;rs2275603	69;63;114;209;203	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	G	203;209;114;69;192;63;97;52;192	ENSP00000236938:S203G;ENSP00000356936:S209G;ENSP00000439838:S114G;ENSP00000442870:S69G;ENSP00000446380:S192G;ENSP00000356934:S63G;ENSP00000309596:S97G;ENSP00000294796:S52G;ENSP00000356930:S192G	ENSP00000236938:S203G	S	+	1	0	FCRLA	159948404	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.373000	0.07494	-2.199000	0.00748	-0.930000	0.02707	AGC	A|0.595;G|0.405	0.405	strong		0.522	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		G	161681780	A	G	161681780	3	3	23	1	0	0	0	0	1	0	0	0	5800	72	3	3	643	3	FCRLA	1	161681780	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	82209	161681780	87568841	351	16807										
OLFML2B	25903	hgsc.bcm.edu	37	chr1	161993192	161993192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaccacaatcagagcgaagTagagaactagcagccgaggc	12	10	1	2	rs12130792	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:161993192T>C	ENST00000294794.3	-	1	452	c.29A>G	c.(28-30)tAc>tGc	p.Y10C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y10C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	10			Y -> C (in dbSNP:rs12130792).		extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGAGCGAAGTAGAGAACTAG	0.627													T|||	488	0.0974441	0.1604	0.0375	5008	,	,		17425	0.1419		0.0726	False		,,,				2504	0.0348				p.Y10C		Atlas-SNP	.											.	OLFML2B	114	.	0			c.A29G						PASS	.	T	CYS/TYR	629,3777	269.5+/-269.1	50,529,1624	56	56	56		29	2.8	0.6	1	dbSNP_120	56	648,7952	165.9+/-218.0	23,602,3675	yes	missense	OLFML2B	NM_015441.1	194	73,1131,5299	CC,CT,TT		7.5349,14.276,9.8185	benign	10/751	161993192	1277,11729	2203	4300	6503	SO:0001583	missense	25903	exon1			GCGAAGTAGAGAA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.29A>G	1.37:g.161993192T>C	ENSP00000294794:p.Tyr10Cys	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	230	72	0.313043	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	239	0.10943223443223443	84	0.17073170731707318	14	0.03867403314917127	85	0.1486013986013986	56	0.07387862796833773	T	5.529	0.282591	0.10458	0.14276	0.075349	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86432	-2.12;-2.12	4.85	2.76	0.32466	.	.	.	.	.	T	0.37919	0.1021	N	0.01576	-0.805	0.23645	P	0.99722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10894	-1.0610	8	0.02654	T	1	.	6.6908	0.23169	0.0:0.7575:0.0:0.2425	rs12130792;rs58683497;rs12130792	10;10	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	10	ENSP00000294794:Y10C;ENSP00000356917:Y10C	ENSP00000294794:Y10C	Y	-	2	0	OLFML2B	160259816	0.782000	0.28689	0.575000	0.28536	0.084000	0.17831	0.741000	0.26202	0.501000	0.28013	-0.366000	0.07423	TAC	T|0.895;C|0.105	0.105	strong		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		C	161993192	T	C	161993192	3	2	23	1	0	0	0	0	1	0	0	0	10858	1638	57	2	2255	2	OLFML2B	1	161993192	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	311412	161993192	87257429	352	16808										
C1orf110	339512	hgsc.bcm.edu	37	chr1	162825457	162825457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggggctctgtgcttctgCcttccctgtggtgagaacac	13	11	2	1	rs77227460	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:162825457C>A	ENST00000367910.1	-	3	399	c.279G>T	c.(277-279)agG>agT	p.R93S	C1orf110_ENST00000367912.2_Missense_Mutation_p.R92S|C1orf110_ENST00000524691.1_5'UTR|C1orf110_ENST00000367911.2_Missense_Mutation_p.R88S	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	93										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGTGCTTCTGCCTTCCCTGTG	0.423													C|||	421	0.0840655	0.062	0.1167	5008	,	,		19440	0.001		0.1948	False		,,,				2504	0.0624				p.R93S		Atlas-SNP	.											.	C1orf110	22	.	0			c.G279T						PASS	.	C	SER/ARG	284,3568		11,262,1653	136	128	131		279	-8.7	0	1	dbSNP_131	131	1625,6637		164,1297,2670	yes	missense	C1orf110	NM_178550.4	110	175,1559,4323	AA,AC,CC		19.6684,7.3728,15.7586	benign	93/303	162825457	1909,10205	1926	4131	6057	SO:0001583	missense	339512	exon3			CTTCTGCCTTCCC	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.279G>T	1.37:g.162825457C>A	ENSP00000356886:p.Arg93Ser	Somatic	309	1	0.00323625		WXS	Illumina HiSeq	Phase_I	428	148	0.345794	NM_178550	Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	CCDS44269.1	232	0.10622710622710622	33	0.06707317073170732	51	0.1408839779005525	0	0.0	148	0.19525065963060687	C	8.612	0.889379	0.17540	0.073728	0.196684	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.33	-8.67	0.00863	.	1.055600	0.07432	N	0.895798	T	0.07234	0.0183	N	0.22421	0.69	0.20873	N	0.99984	B;B	0.11235	0.004;0.004	B;B	0.16289	0.015;0.015	T	0.16719	-1.0393	8	0.36615	T	0.2	-0.0422	4.4614	0.11668	0.0971:0.4166:0.0975:0.3887	.	92;93	Q86UF4-2;Q86UF4	.;CA110_HUMAN	S	92;88;93	.	ENSP00000356886:R93S	R	-	3	2	C1orf110	161092081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.208000	0.01229	-2.256000	0.00695	-1.099000	0.02127	AGG	C|0.875;A|0.125	0.125	strong		0.423	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		A	162825457	C	A	162825457	3	1	23	1	0	0	0	0	1	0	0	0	1983	738	26	4	637	4	C1orf110	1	162825457	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	832265	162825457	86425164	353	16809										
NUF2	83540	hgsc.bcm.edu	37	chr1	163297322	163297322	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagagccttacaaatagtAtatggaattcgactggaaca	9	6	0	1	rs16852612	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:163297322A>C	ENST00000271452.3	+	3	447	c.168A>C	c.(166-168)gtA>gtC	p.V56V	NUF2_ENST00000367900.3_Silent_p.V56V|NUF2_ENST00000524800.1_Silent_p.V56V|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	56	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TACAAATAGTATATGGAATTC	0.353													A|||	391	0.0780751	0.0408	0.1441	5008	,	,		17943	0.0238		0.1769	False		,,,				2504	0.0358				p.V56V		Atlas-SNP	.											.	NUF2	138	.	0			c.A168C						PASS	.	A	,	238,4168	139.2+/-174.8	7,224,1972	173	174	174		168,168	-8.7	0.1	1	dbSNP_123	174	1443,7157	276.9+/-292.6	125,1193,2982	no	coding-synonymous,coding-synonymous	NUF2	NM_031423.3,NM_145697.2	,	132,1417,4954	CC,CA,AA		16.7791,5.4017,12.9248	,	56/465,56/465	163297322	1681,11325	2203	4300	6503	SO:0001819	synonymous_variant	83540	exon3			AATAGTATATGGA	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.168A>C	1.37:g.163297322A>C		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	240	181	0.754167	NM_145697	Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	CCDS1245.1																																																																																			A|0.888;C|0.112	0.112	strong		0.353	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		C	163297322	A	C	163297322	2	2	23	1	0	0	0	0	0	0	0	1	10747	436	16	5		5	NUF2	1	163297322	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	471865	163297322	85953299	354	16810										
NUF2	83540	hgsc.bcm.edu	37	chr1	163313539	163313539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagaatgaactaaaattgtCggtggtttctttgaaagaaa	9	4	1	4	rs11802875	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:163313539C>T	ENST00000271452.3	+	10	965	c.686C>T	c.(685-687)tCg>tTg	p.S229L	NUF2_ENST00000367900.3_Missense_Mutation_p.S229L|NUF2_ENST00000524800.1_Missense_Mutation_p.S229L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	229	Interaction with the N-terminus of NDC80.		S -> L (in dbSNP:rs11802875). {ECO:0000269|PubMed:11266451, ECO:0000269|PubMed:11685532}.		chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTAAAATTGTCGGTGGTTTCT	0.274													C|||	621	0.124002	0.1664	0.1671	5008	,	,		14112	0.0228		0.1928	False		,,,				2504	0.0695				p.S229L		Atlas-SNP	.											NUF2_ENST00000271452,NS,carcinoma,0,2	NUF2	138	2	0			c.C686T						PASS	.	C	LEU/SER,LEU/SER	582,3586		39,504,1541	20	22	21		686,686	3	0.5	1	dbSNP_120	21	1469,7027		127,1215,2906	yes	missense,missense	NUF2	NM_031423.3,NM_145697.2	145,145	166,1719,4447	TT,TC,CC		17.2905,13.9635,16.1955	possibly-damaging,possibly-damaging	229/465,229/465	163313539	2051,10613	2084	4248	6332	SO:0001583	missense	83540	exon10			AATTGTCGGTGGT	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.686C>T	1.37:g.163313539C>T	ENSP00000271452:p.Ser229Leu	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	168	90	0.535714	NM_145697	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	310	0.14194139194139194	76	0.15447154471544716	63	0.17403314917127072	14	0.024475524475524476	157	0.20712401055408972	C	10.29	1.308613	0.23821	0.139635	0.172905	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.31247	1.54;1.5;1.5	4.83	2.96	0.34315	.	0.474249	0.23149	N	0.051374	T	0.06872	0.0175	L	0.47716	1.5	0.30934	P	0.726526	P;P	0.45569	0.861;0.861	B;B	0.25614	0.062;0.062	T	0.21177	-1.0253	9	0.28530	T	0.3	-1.4962	6.7062	0.23252	0.0:0.7141:0.0:0.2859	rs11802875;rs56525990;rs59877163;rs11802875	229;229	E9PQC4;Q9BZD4	.;NUF2_HUMAN	L	229	ENSP00000436888:S229L;ENSP00000356875:S229L;ENSP00000271452:S229L	ENSP00000271452:S229L	S	+	2	0	NUF2	161580163	0.477000	0.25909	0.455000	0.27031	0.560000	0.35617	1.227000	0.32576	0.763000	0.33175	0.585000	0.79938	TCG	C|0.865;N|0.000	.	strong		0.274	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		T	163313539	C	T	163313539	3	4	23	1	0	0	0	0	1	0	0	0	10747	893	31	1	720	1	NUF2	1	163313539	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16217	163313539	85937082	355	16811										
RXRG	6258	hgsc.bcm.edu	37	chr1	165389129	165389129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggatctgtctccacagatGgcacagatgtgtttaaccag	11	9	2	2	rs1128977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:165389129G>A	ENST00000359842.5	-	3	722	c.420C>T	c.(418-420)gcC>gcT	p.A140A	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	140					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTCCACAGATGGCACAGATGT	0.527													G|||	1139	0.227436	0.0719	0.2637	5008	,	,		17790	0.122		0.3996	False		,,,				2504	0.3436				p.A140A		Atlas-SNP	.											.	RXRG	91	.	0			c.C420T						PASS	.	G		537,3869	242.5+/-252.5	33,471,1699	143	131	135		420	4.3	1	1	dbSNP_86	135	3324,5276	495.8+/-374.1	646,2032,1622	no	coding-synonymous	RXRG	NM_006917.4		679,2503,3321	AA,AG,GG		38.6512,12.1879,29.6863		140/464	165389129	3861,9145	2203	4300	6503	SO:0001819	synonymous_variant	6258	exon3			ACAGATGGCACAG	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.420C>T	1.37:g.165389129G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	186	115	0.61828	NM_006917	A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	CCDS1248.1																																																																																			G|0.737;A|0.263	0.263	strong		0.527	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		A	165389129	G	A	165389129	2	1	23	1	0	0	0	0	0	0	0	1	13765	1335	47	2		2	RXRG	1	165389129	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2075590	165389129	83861492	356	16812										
ALDH9A1	223	hgsc.bcm.edu	37	chr1	165648709	165648709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaggaagttggccatcagCgccccctttacagcattgtt	11	11	1	1	rs1143661	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:165648709C>T	ENST00000354775.4	-	6	1204	c.900G>A	c.(898-900)gcG>gcA	p.A300A	ALDH9A1_ENST00000538148.1_Silent_p.A206A|ALDH9A1_ENST00000461664.1_5'Flank	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	276					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGGCCATCAGCGCCCCCTTTA	0.468													C|||	397	0.0792732	0.1702	0.0447	5008	,	,		18744	0.0179		0.0616	False		,,,				2504	0.0624				p.A300A	Ovarian(179;1583 2014 18106 33801 42447)	Atlas-SNP	.											.	ALDH9A1	75	.	0			c.G900A						PASS	.	C		637,3769	274.9+/-272.2	55,527,1621	124	103	110		900	-10.7	0.3	1	dbSNP_120	110	615,7985	160.8+/-213.9	24,567,3709	no	coding-synonymous	ALDH9A1	NM_000696.3		79,1094,5330	TT,TC,CC		7.1512,14.4576,9.6263		300/519	165648709	1252,11754	2203	4300	6503	SO:0001819	synonymous_variant	223	exon6			CATCAGCGCCCCC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.900G>A	1.37:g.165648709C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	258	253	0.98062	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	CCDS1250.2																																																																																			C|0.910;T|0.090	0.090	strong		0.468	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			T	165648709	C	T	165648709	2	4	23	1	0	0	0	0	0	0	0	1	506	755	27	1		1	ALDH9A1	1	165648709	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	259580	165648709	83601912	357	16813										
ALDH9A1	223	hgsc.bcm.edu	37	chr1	165664562	165664562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgactccatattttaaaaGcagcctttgcattttgaaca	5	8	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:165664562G>A	ENST00000354775.4	-	2	558	c.254C>T	c.(253-255)gCt>gTt	p.A85V	ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	61					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TATTTTAAAAGCAGCCTTTGC	0.398																																					p.A85V	Ovarian(179;1583 2014 18106 33801 42447)	Atlas-SNP	.											.	ALDH9A1	75	.	0			c.C254T						PASS	.						99	98	98					1																	165664562		2203	4300	6503	SO:0001583	missense	223	exon2			TTAAAAGCAGCCT	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.254C>T	1.37:g.165664562G>A	ENSP00000346827:p.Ala85Val	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	23	0.232323	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000143149	ENST00000354775	D	0.94330	-3.4	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.81179	2.53	0.52099	D	0.999942	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.96736	0.9543	9	0.87932	D	0	.	16.7765	0.85552	0.0:0.0:1.0:0.0	.	75;85	B4DX14;B9EKV4	.;.	V	85	ENSP00000346827:A85V	ENSP00000346827:A85V	A	-	2	0	ALDH9A1	163931186	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.115000	0.77110	2.545000	0.85829	0.655000	0.94253	GCT	.	.	none		0.398	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			A	165664562	G	A	165664562	3	1	23	1	0	0	0	0	1	0	0	0	506	971	34	2	1342	2	ALDH9A1	1	165664562	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15853	165664562	83586059	358	16814										
FAM78B	149297	hgsc.bcm.edu	37	chr1	166039898	166039898	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggtggggccaaccagggtCacagtttctgtggtgttccc	14	10	2	0	rs41269662	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:166039898C>G	ENST00000338353.3	-	3	955	c.366G>C	c.(364-366)gtG>gtC	p.V122V	FAM78B_ENST00000354422.3_Silent_p.V122V			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	122										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAACCAGGGTCACAGTTTCTG	0.542													C|||	1120	0.223642	0.211	0.3156	5008	,	,		19058	0.256		0.1501	False		,,,				2504	0.2178				p.V122V		Atlas-SNP	.											.	FAM78B	51	.	0			c.G366C						PASS	.	C		895,3511	347.2+/-309.4	91,713,1399	139	128	132		366	4.6	1	1	dbSNP_127	132	1132,7468	233.9+/-267.0	76,980,3244	no	coding-synonymous	FAM78B	NM_001017961.3		167,1693,4643	GG,GC,CC		13.1628,20.3132,15.5851		122/262	166039898	2027,10979	2203	4300	6503	SO:0001819	synonymous_variant	149297	exon2			CAGGGTCACAGTT	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.366G>C	1.37:g.166039898C>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	103	32	0.31068	NM_001017961	B7Z693	Silent	SNP	ENST00000338353.3	37	CCDS30931.1																																																																																			C|0.820;G|0.180	0.180	strong		0.542	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		G	166039898	C	G	166039898	2	3	23	1	0	0	0	0	0	0	0	1	5627	813	29	4		4	FAM78B	1	166039898	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	375336	166039898	83210723	359	16815										
GPA33	10223	hgsc.bcm.edu	37	chr1	167042762	167042762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtttccacagagatggcatCgacggtcaccctgactggaa	11	11	1	2	rs2274531	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:167042762C>T	ENST00000367868.3	-	2	401	c.58G>A	c.(58-60)Gat>Aat	p.D20N	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	20			D -> N (in dbSNP:rs2274531).			extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAGATGGCATCGACGGTCACC	0.562													C|||	407	0.08127	0.0333	0.062	5008	,	,		20041	0.1726		0.0944	False		,,,				2504	0.0521				p.D20N		Atlas-SNP	.											.	GPA33	50	.	0			c.G58A						PASS	.	C	ASN/ASP	238,4168	140.0+/-175.5	6,226,1971	76	62	66		58	-10.5	0	1	dbSNP_100	66	954,7646	209.7+/-250.8	46,862,3392	yes	missense	GPA33	NM_005814.1	23	52,1088,5363	TT,TC,CC		11.093,5.4017,9.165	benign	20/320	167042762	1192,11814	2203	4300	6503	SO:0001583	missense	10223	exon2			TGGCATCGACGGT	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.58G>A	1.37:g.167042762C>T	ENSP00000356842:p.Asp20Asn	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	131	131	1	NM_005814	Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	CCDS1258.1	207	0.09478021978021978	18	0.036585365853658534	27	0.07458563535911603	91	0.1590909090909091	71	0.09366754617414248	C	8.915	0.959717	0.18507	0.054017	0.11093	ENSG00000143167	ENST00000367868	T	0.75589	-0.95	5.26	-10.5	0.00291	Immunoglobulin-like (1);	1.517130	0.03249	N	0.181585	T	0.17408	0.0418	N	0.05124	-0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	9	0.17832	T	0.49	.	2.9601	0.05889	0.1411:0.3526:0.3433:0.163	rs2274531;rs52798750;rs58568129;rs2274531	20	Q99795	GPA33_HUMAN	N	20	ENSP00000356842:D20N	ENSP00000356842:D20N	D	-	1	0	GPA33	165309386	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.283000	0.01155	-3.393000	0.00172	-0.797000	0.03246	GAT	C|0.905;T|0.095	0.095	strong		0.562	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		T	167042762	C	T	167042762	3	4	23	1	0	0	0	0	1	0	0	0	6586	884	31	1	925	1	GPA33	1	167042762	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1002864	167042762	82207859	360	16816										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167096931	167096931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagaagatgtctgagtacAaaatggaaaagctggcctca	13	6	2	3	rs267746	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:167096931A>C	ENST00000361200.2	+	6	2729	c.2563A>C	c.(2563-2565)Aaa>Caa	p.K855Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.K855Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.K855Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	855			K -> Q (in dbSNP:rs267746). {ECO:0000269|PubMed:15489334}.		protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTCTGAGTACAAAATGGAAAA	0.498													A|||	1016	0.202875	0.4138	0.1398	5008	,	,		22916	0.127		0.16	False		,,,				2504	0.0849				p.K855Q		Atlas-SNP	.											.	DUSP27	235	.	0			c.A2563C						PASS	.	A	GLN/LYS	1654,2752	503.5+/-365.6	319,1016,868	70	62	64		2563	3	1	1	dbSNP_79	64	1479,7121	281.4+/-295.0	128,1223,2949	yes	missense	DUSP27	NM_001080426.1	53	447,2239,3817	CC,CA,AA		17.1977,37.5397,24.0889	benign	855/1159	167096931	3133,9873	2203	4300	6503	SO:0001583	missense	92235	exon5			GAGTACAAAATGG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2563A>C	1.37:g.167096931A>C	ENSP00000354483:p.Lys855Gln	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	144	141	0.979167	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	434	0.1987179487179487	200	0.4065040650406504	53	0.1464088397790055	73	0.12762237762237763	108	0.1424802110817942	A	1.366	-0.587281	0.03799	0.375397	0.171977	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03242	4.0;4.0;4.0	5.47	2.98	0.34508	.	0.225631	0.36482	N	0.002580	T	0.01156	0.0038	L	0.39898	1.24	0.35006	P	0.24358400000000002	B	0.19706	0.038	B	0.13407	0.009	T	0.40289	-0.9571	9	0.09843	T	0.71	-21.8314	12.2843	0.54783	0.4647:0.5353:0.0:0.0	rs267746;rs59992554;rs267746	855	Q5VZP5	DUS27_HUMAN	Q	855	ENSP00000354483:K855Q;ENSP00000271385:K855Q;ENSP00000404874:K855Q	ENSP00000271385:K855Q	K	+	1	0	DUSP27	165363555	0.999000	0.42202	0.985000	0.45067	0.162000	0.22319	2.360000	0.44151	0.873000	0.35799	-0.485000	0.04761	AAA	A|0.780;C|0.220	0.220	strong		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167096931	A	C	167096931	3	2	23	1	0	0	0	0	1	0	0	0	4824	131	5	5	2581	5	DUSP27	1	167096931	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	54169	167096931	82153690	361	16817										
ADCY10	55811	hgsc.bcm.edu	37	chr1	167839578	167839578	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtaatccctcatacattaaGacttggctgctgttagatat	8	8	1	2	rs67878347	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:167839578G>A	ENST00000367851.4	-	14	1717	c.1533C>T	c.(1531-1533)gtC>gtT	p.V511V	ADCY10_ENST00000545172.1_Silent_p.V358V|ADCY10_ENST00000367848.1_Silent_p.V419V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	511					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATACATTAAGACTTGGCTGC	0.343													G|||	629	0.125599	0.0356	0.2161	5008	,	,		18173	0.126		0.2068	False		,,,				2504	0.0992				p.V511V		Atlas-SNP	.											ADCY10,brain,glioma,0,1	ADCY10	175	1	0			c.C1533T						PASS	.	G	,	321,4085	168.3+/-199.2	12,297,1894	112	107	108		1074,1533	0.7	0.4	1	dbSNP_130	108	1775,6825	320.4+/-314.6	204,1367,2729	no	coding-synonymous,coding-synonymous	ADCY10	NM_001167749.1,NM_018417.4	,	216,1664,4623	AA,AG,GG		20.6395,7.2855,16.1156	,	358/1458,511/1611	167839578	2096,10910	2203	4300	6503	SO:0001819	synonymous_variant	55811	exon14			CATTAAGACTTGG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1533C>T	1.37:g.167839578G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	169	103	0.609467	NM_018417	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																			G|0.835;A|0.165	0.165	strong		0.343	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		A	167839578	G	A	167839578	2	1	23	1	0	0	0	0	0	0	0	1	293	929	33	2		2	ADCY10	1	167839578	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	742647	167839578	81411043	362	16818										
BRP44	25874	hgsc.bcm.edu	37	chr1	167893759	167893759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcataattggagcccagaaGaaaactgttctgggacctga	10	8	2	3	rs9618	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:167893759G>A	ENST00000367846.4	-	2	324	c.126C>T	c.(124-126)ttC>ttT	p.F42F	MPC2_ENST00000271373.4_Silent_p.F42F	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	42					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										GAGCCCAGAAGAAAACTGTTC	0.299													A|||	2036	0.40655	0.6823	0.5202	5008	,	,		16494	0.1806		0.3519	False		,,,				2504	0.2423				p.F42F		Atlas-SNP	.											BRP44,caecum,carcinoma,0,1	.	.	1	0			c.C126T						scavenged	.	A	,	2624,1772		794,1036,368	17	19	18		126,126	2.1	1	1	dbSNP_79	18	2851,5725		507,1837,1944	no	coding-synonymous,coding-synonymous	BRP44	NM_001143674.2,NM_015415.3	,	1301,2873,2312	AA,AG,GG		33.2439,40.3094,42.2063	,	42/128,42/128	167893759	5475,7497	2198	4288	6486	SO:0001819	synonymous_variant	25874	exon3			CCAGAAGAAAACT		CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.126C>T	1.37:g.167893759G>A		Somatic	170	2	0.0117647		WXS	Illumina HiSeq	Phase_I	153	89	0.581699	NM_001143674	A8K261|Q3SXR6|Q6FIF3	Silent	SNP	ENST00000367846.4	37	CCDS1266.1																																																																																			G|0.609;A|0.391	0.391	strong		0.299	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415		A	167893759	G	A	167893759	2	1	23	1	0	0	0	0	0	0	0	1	1518	933	33	2		2	BRP44	1	167893759	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	54181	167893759	81356862	363	16819										
DCAF6	55827	hgsc.bcm.edu	37	chr1	167973976	167973976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctttgctatcttctccagaCagtgaacaaaggcagtctgt	8	11	3	2	rs1060041	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:167973976C>T	ENST00000312263.6	+	10	1527	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D	DCAF6_ENST00000367843.3_Silent_p.D441D|DCAF6_ENST00000432587.2_Silent_p.D410D|DCAF6_ENST00000367840.3_Silent_p.D441D	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	441					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTTCTCCAGACAGTGAACAAA	0.448													C|||	841	0.167931	0.0401	0.3876	5008	,	,		18740	0.1339		0.2266	False		,,,				2504	0.1595				p.D441D		Atlas-SNP	.											.	DCAF6	99	.	0			c.C1323T						PASS	.	C	,,,	395,4011	194.0+/-219.0	12,371,1820	101	97	98		1323,1323,1230,1323	2.2	1	1	dbSNP_86	98	2042,6556	355.6+/-330.0	246,1550,2503	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCAF6	NM_001017977.2,NM_001198956.1,NM_001198957.1,NM_018442.3	,,,	258,1921,4323	TT,TC,CC		23.7497,8.965,18.7404	,,,	441/861,441/952,410/921,441/881	167973976	2437,10567	2203	4299	6502	SO:0001819	synonymous_variant	55827	exon10			TCCAGACAGTGAA	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1323C>T	1.37:g.167973976C>T		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	221	130	0.588235	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	CCDS30933.1																																																																																			C|0.821;T|0.179	0.179	strong		0.448	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		T	167973976	C	T	167973976	2	4	23	1	0	0	0	0	0	0	0	1	4274	477	17	2		2	DCAF6	1	167973976	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	80217	167973976	81276645	364	16820										
GPR161	23432	hgsc.bcm.edu	37	chr1	168059866	168059866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgccccaggggctgtccAcctgccatgagcgcagtgag	14	14	0	2	rs275149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:168059866A>G	ENST00000367838.1	-	6	1453	c.1140T>C	c.(1138-1140)ggT>ggC	p.G380G	GPR161_ENST00000539777.1_Silent_p.G302G|GPR161_ENST00000271357.5_Silent_p.G380G|GPR161_ENST00000537209.1_Silent_p.G400G|GPR161_ENST00000367835.1_Silent_p.G380G|GPR161_ENST00000367836.1_Silent_p.G248G|GPR161_ENST00000361697.2_Silent_p.G380G|GPR161_ENST00000546300.1_Silent_p.G266G	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	380					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGGGCTGTCCACCTGCCATGA	0.597													G|||	1605	0.320487	0.5257	0.4063	5008	,	,		18253	0.1518		0.2634	False		,,,				2504	0.2147				p.G400G		Atlas-SNP	.											GPR161,colon,carcinoma,0,2	GPR161	56	2	0			c.T1200C						scavenged	.	G		2723,1683		837,1049,317	40	40	40		1140	-9.6	0	1	dbSNP_79	40	2891,5709		499,1893,1908	no	coding-synonymous	GPR161	NM_153832.1		1336,2942,2225	GG,GA,AA		33.6163,38.1979,43.1647		380/530	168059866	5614,7392	2203	4300	6503	SO:0001819	synonymous_variant	23432	exon5			CTGTCCACCTGCC	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1140T>C	1.37:g.168059866A>G		Somatic	133	2	0.0150376		WXS	Illumina HiSeq	Phase_I	133	48	0.360902	NM_001267609	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	CCDS1268.1																																																																																			A|0.580;G|0.420	0.420	strong		0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		G	168059866	A	G	168059866	2	3	23	1	0	0	0	0	0	0	0	1	6665	146	6	2		2	GPR161	1	168059866	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	85890	168059866	81190755	365	16821										
XCL2	6846	hgsc.bcm.edu	37	chr1	168511284	168511284	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggtcttgattctgctaacTggcagtcgctgggtagtgag	14	7	2	2	rs4282797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:168511284T>C	ENST00000367819.2	-	2	155	c.123A>G	c.(121-123)ccA>ccG	p.P41P		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	41					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCTGCTAACTGGCAGTCGCT	0.478													T|||	1763	0.352037	0.2481	0.3818	5008	,	,		12214	0.6429		0.2117	False		,,,				2504	0.316				p.P41P		Atlas-SNP	.											XCL2,colon,carcinoma,-2,1	XCL2	18	1	0			c.A123G						PASS	.	T		779,3627		110,559,1534	139	116	124		123	-0.3	0.3	1	dbSNP_111	124	1024,7572		170,684,3444	yes	coding-synonymous	XCL2	NM_003175.3		280,1243,4978	CC,CT,TT		11.9125,17.6804,13.8671		41/115	168511284	1803,11199	2203	4298	6501	SO:0001819	synonymous_variant	6846	exon2			GCTAACTGGCAGT	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.123A>G	1.37:g.168511284T>C		Somatic	370	0	0		WXS	Illumina HiSeq	Phase_I	307	45	0.14658	NM_003175		Silent	SNP	ENST00000367819.2	37	CCDS1273.1																																																																																			T|0.709;C|0.291	0.291	strong		0.478	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		C	168511284	T	C	168511284	2	2	23	1	0	0	0	0	0	0	0	1	17421	1567	55	3		3	XCL2	1	168511284	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	451418	168511284	80739337	366	16822										
F5	2153	hgsc.bcm.edu	37	chr1	169498975	169498975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaaattctctcatgtccaTaggcatgttgctgtccttat	7	10	2	0	rs6030	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169498975T>C	ENST00000367797.3	-	16	5491	c.5290A>G	c.(5290-5292)Atg>Gtg	p.M1764V	F5_ENST00000367796.3_Missense_Mutation_p.M1769V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1764	F5/8 type A 3.|Plastocyanin-like 6.		M -> V (in dbSNP:rs6030). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:3110773, ECO:0000269|PubMed:7874144}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTCATGTCCATAGGCATGTTG	0.393													C|||	1546	0.308706	0.1732	0.4885	5008	,	,		19732	0.2837		0.3111	False		,,,				2504	0.3875				p.M1764V		Atlas-SNP	.											.	F5	301	.	0			c.A5290G	GRCh37	CM070090	F5	M	rs6030	PASS	.	C	VAL/MET	878,3528	744.5+/-411.6	87,704,1412	154	148	150		5290	-2.9	0.2	1	dbSNP_52	150	2886,5714	672.0+/-402.9	453,1980,1867	yes	missense	F5	NM_000130.4	21	540,2684,3279	CC,CT,TT		33.5581,19.9274,28.9405	benign	1764/2225	169498975	3764,9242	2203	4300	6503	SO:0001583	missense	2153	exon16			TGTCCATAGGCAT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5290A>G	1.37:g.169498975T>C	ENSP00000356771:p.Met1764Val	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	205	203	0.990244	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	639	0.2925824175824176	102	0.2073170731707317	161	0.4447513812154696	137	0.2395104895104895	239	0.3153034300791557	C	0.020	-1.433840	0.01108	0.199274	0.335581	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.32	-2.86	0.05717	Cupredoxin (2);	0.908379	0.09456	N	0.799742	T	0.78729	0.4329	N	0.03608	-0.345	0.19945	P	0.999945	B	0.02656	0.0	B	0.01281	0.0	T	0.72293	-0.4336	9	0.02654	T	1	-0.243	3.2522	0.06819	0.0923:0.1961:0.2724:0.4392	rs6030;rs3830171;rs17579170;rs61682329;rs6030	1764	P12259	FA5_HUMAN	V	1764;1769	ENSP00000356771:M1764V;ENSP00000356770:M1769V	ENSP00000356770:M1769V	M	-	1	0	F5	167765599	0.000000	0.05858	0.189000	0.23252	0.981000	0.71138	-2.414000	0.01037	-0.913000	0.03832	-0.226000	0.12346	ATG	T|0.711;C|0.288	0.288	strong		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169498975	T	C	169498975	3	2	23	1	0	0	0	0	1	0	0	0	5348	1406	49	2	1424	2	F5	1	169498975	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	987691	169498975	79751646	367	16823										
F5	2153	hgsc.bcm.edu	37	chr1	169511555	169511555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatcactaggagggtcctTccagggcctcattctggaag	12	11	3	1	rs6032	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169511555T>C	ENST00000367797.3	-	13	2974	c.2773A>G	c.(2773-2775)Aag>Gag	p.K925E	F5_ENST00000367796.3_Missense_Mutation_p.K930E	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	925	2 X 17 AA tandem repeats.|B.		K -> E (in dbSNP:rs6032). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11758222, ECO:0000269|PubMed:2827731, ECO:0000269|PubMed:3110773, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGAGGGTCCTTCCAGGGCCTC	0.478													C|||	1316	0.26278	0.1679	0.3948	5008	,	,		20989	0.248		0.2535	False		,,,				2504	0.3221				p.K925E		Atlas-SNP	.											F5,colon,carcinoma,+2,1	F5	301	1	0			c.A2773G						PASS	.	C	GLU/LYS	812,3594	748.8+/-412.0	67,678,1458	105	111	109		2773	-5.1	0	1	dbSNP_52	109	2355,6245	701.7+/-405.2	300,1755,2245	yes	missense	F5	NM_000130.4	56	367,2433,3703	CC,CT,TT		27.3837,18.4294,24.3503	benign	925/2225	169511555	3167,9839	2203	4300	6503	SO:0001583	missense	2153	exon13			GGTCCTTCCAGGG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2773A>G	1.37:g.169511555T>C	ENSP00000356771:p.Lys925Glu	Somatic	184	1	0.00543478		WXS	Illumina HiSeq	Phase_I	237	237	1	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	532	0.24358974358974358	96	0.1951219512195122	130	0.35911602209944754	113	0.19755244755244755	193	0.2546174142480211	C	2.099	-0.406537	0.04832	0.184294	0.273837	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.18016	2.24;2.24	5.11	-5.14	0.02875	.	0.944141	0.08852	N	0.884318	T	0.02083	0.0065	N	0.11427	0.14	0.09310	P	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48502	-0.9030	9	0.02654	T	1	.	17.3504	0.87322	0.0:0.8069:0.0:0.1931	rs6032;rs52829643;rs6032	925	P12259	FA5_HUMAN	E	925;930	ENSP00000356771:K925E;ENSP00000356770:K930E	ENSP00000356770:K930E	K	-	1	0	F5	167778179	0.000000	0.05858	0.002000	0.10522	0.092000	0.18411	-0.987000	0.03743	-1.326000	0.02266	-1.306000	0.01317	AAG	T|0.758;C|0.242	0.242	strong		0.478	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169511555	T	C	169511555	3	2	23	1	0	0	0	0	1	0	0	0	5348	1792	62	2	3953	2	F5	1	169511555	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12580	169511555	79739066	368	16824			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
F5	2153	hgsc.bcm.edu	37	chr1	169511734	169511734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctaccttgggtcccttaTgcttagcatgttcttgactt	7	10	2	1	rs4525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169511734T>C	ENST00000367797.3	-	13	2795	c.2594A>G	c.(2593-2595)cAt>cGt	p.H865R	F5_ENST00000367796.3_Missense_Mutation_p.H870R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	865	B.		H -> R (in dbSNP:rs4525). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11758222, ECO:0000269|PubMed:2827731, ECO:0000269|PubMed:3110773, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGTCCCTTATGCTTAGCATG	0.448													T|||	1316	0.26278	0.1679	0.3948	5008	,	,		21442	0.248		0.2535	False		,,,				2504	0.3221				p.H865R		Atlas-SNP	.											F5,NS,carcinoma,-1,1	F5	301	1	0			c.A2594G						PASS	.	T	ARG/HIS	814,3592	321.5+/-297.2	68,678,1457	193	179	184		2594	-1.1	0	1	dbSNP_52	184	2356,6244	393.9+/-344.5	300,1756,2244	yes	missense	F5	NM_000130.4	29	368,2434,3701	CC,CT,TT		27.3953,18.4748,24.3734	benign	865/2225	169511734	3170,9836	2203	4300	6503	SO:0001583	missense	2153	exon13			CCCTTATGCTTAG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2594A>G	1.37:g.169511734T>C	ENSP00000356771:p.His865Arg	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	375	369	0.984	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	532	0.24358974358974358	96	0.1951219512195122	130	0.35911602209944754	113	0.19755244755244755	193	0.2546174142480211	T	5.461	0.270076	0.10349	0.184748	0.273953	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19806	2.12;2.12	5.72	-1.12	0.09808	.	1.326480	0.04974	N	0.464508	T	0.05181	0.0138	L	0.42245	1.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	9	0.22109	T	0.4	-5.295	5.176	0.15135	0.0:0.2234:0.2754:0.5013	rs4525;rs3186700;rs52799245;rs57691265;rs4525	865	P12259	FA5_HUMAN	R	865;870	ENSP00000356771:H865R;ENSP00000356770:H870R	ENSP00000356770:H870R	H	-	2	0	F5	167778358	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.167000	0.09940	-0.449000	0.07117	-0.351000	0.07748	CAT	T|0.758;C|0.242	0.242	strong		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169511734	T	C	169511734	3	2	23	1	0	0	0	0	1	0	0	0	5348	1464	51	2	4132	2	F5	1	169511734	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	179	169511734	79738887	369	16825			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
F5	2153	hgsc.bcm.edu	37	chr1	169511755	169511755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttagcatgttcttgacttTtgaattctccagcaccaagt	7	10	2	2	rs4524	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169511755T>C	ENST00000367797.3	-	13	2774	c.2573A>G	c.(2572-2574)aAa>aGa	p.K858R	F5_ENST00000367796.3_Missense_Mutation_p.K863R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	858	B.		K -> R (in dbSNP:rs4524). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11758222, ECO:0000269|PubMed:2827731, ECO:0000269|PubMed:3110773, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCTTGACTTTTGAATTCTCC	0.453													T|||	1336	0.266773	0.1679	0.3948	5008	,	,		21468	0.248		0.2535	False		,,,				2504	0.3425				p.K858R		Atlas-SNP	.											.	F5	301	.	0			c.A2573G						PASS	.	T	ARG/LYS	813,3593	321.3+/-297.0	68,677,1458	187	175	179		2573	-1.7	0	1	dbSNP_52	179	2355,6245	393.6+/-344.4	300,1755,2245	yes	missense	F5	NM_000130.4	26	368,2432,3703	CC,CT,TT		27.3837,18.4521,24.358	benign	858/2225	169511755	3168,9838	2203	4300	6503	SO:0001583	missense	2153	exon13			TGACTTTTGAATT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2573A>G	1.37:g.169511755T>C	ENSP00000356771:p.Lys858Arg	Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	361	352	0.975069	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	532	0.24358974358974358	96	0.1951219512195122	130	0.35911602209944754	113	0.19755244755244755	193	0.2546174142480211	T	0.281	-0.986145	0.02180	0.184521	0.273837	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19105	2.17;2.17	5.34	-1.7	0.08159	.	0.830320	0.10778	N	0.635169	T	0.01523	0.0049	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47711	-0.9096	9	0.15499	T	0.54	-3.9453	5.1617	0.15064	0.0:0.3402:0.1552:0.5046	rs4524;rs52817149;rs59950571;rs4524	858	P12259	FA5_HUMAN	R	858;863	ENSP00000356771:K858R;ENSP00000356770:K863R	ENSP00000356770:K863R	K	-	2	0	F5	167778379	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.454000	0.06770	-0.097000	0.12307	-1.534000	0.00916	AAA	T|0.760;C|0.240	0.240	strong		0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169511755	T	C	169511755	3	2	23	1	0	0	0	0	1	0	0	0	5348	1841	64	2	4153	2	F5	1	169511755	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	21	169511755	79738866	370	16826			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
F5	2153	hgsc.bcm.edu	37	chr1	169512027	169512027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaacaattatatctgtgttTgaagaaacgaattcagtgcc	7	8	2	2	rs6021	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169512027T>C	ENST00000367797.3	-	13	2502	c.2301A>G	c.(2299-2301)tcA>tcG	p.S767S	F5_ENST00000367796.3_Silent_p.S772S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	767	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATCTGTGTTTGAAGAAACGA	0.393													C|||	1316	0.26278	0.1679	0.3948	5008	,	,		21933	0.248		0.2535	False		,,,				2504	0.3221				p.S767S		Atlas-SNP	.											.	F5	301	.	0			c.A2301G						PASS	.	C		813,3593	750.9+/-412.2	68,677,1458	165	159	161		2301	0.8	0	1	dbSNP_52	161	2355,6245	702.6+/-405.3	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2434,3702	CC,CT,TT		27.3837,18.4521,24.358		767/2225	169512027	3168,9838	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TGTGTTTGAAGAA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2301A>G	1.37:g.169512027T>C		Somatic	160	1	0.00625		WXS	Illumina HiSeq	Phase_I	187	186	0.994652	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			T|0.763;C|0.237	0.237	strong		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169512027	T	C	169512027	2	2	23	1	0	0	0	0	0	0	0	1	5348	1799	63	2		2	F5	1	169512027	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	272	169512027	79738594	371	16827			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
F5	2153	hgsc.bcm.edu	37	chr1	169512093	169512093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaactcttcttcttcctgAttcaatgatgagtttcggaa	7	8	4	4	rs6017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169512093A>G	ENST00000367797.3	-	13	2436	c.2235T>C	c.(2233-2235)aaT>aaC	p.N745N	F5_ENST00000367796.3_Silent_p.N750N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	745	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTTCTTCCTGATTCAATGATG	0.393													A|||	1316	0.26278	0.1679	0.3948	5008	,	,		21864	0.248		0.2535	False		,,,				2504	0.3221				p.N745N		Atlas-SNP	.											.	F5	301	.	0			c.T2235C						PASS	.	A		812,3594	320.7+/-296.8	68,676,1459	216	202	206		2235	-1.3	0	1	dbSNP_52	206	2355,6245	393.9+/-344.5	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2433,3703	GG,GA,AA		27.3837,18.4294,24.3503		745/2225	169512093	3167,9839	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TTCCTGATTCAAT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2235T>C	1.37:g.169512093A>G		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	202	202	1	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			A|0.760;G|0.240	0.240	strong		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169512093	A	G	169512093	2	3	23	1	0	0	0	0	0	0	0	1	5348	330	12	2		2	F5	1	169512093	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	66	169512093	79738528	372	16828			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
F5	2153	hgsc.bcm.edu	37	chr1	169512120	169512120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgagtttcggaatgacctGattcctaatgctgcagccag	11	9	0	3	rs6016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169512120G>A	ENST00000367797.3	-	13	2409	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	F5_ENST00000367796.3_Silent_p.I741I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	736	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGAATGACCTGATTCCTAATG	0.428													A|||	1316	0.26278	0.1679	0.3948	5008	,	,		20914	0.248		0.2535	False		,,,				2504	0.3221				p.I736I		Atlas-SNP	.											.	F5	301	.	0			c.C2208T						PASS	.	A		813,3593	750.9+/-412.2	68,677,1458	227	210	216		2208	-2.7	0.9	1	dbSNP_52	216	2355,6245	702.8+/-405.3	299,1757,2244	no	coding-synonymous	F5	NM_000130.4		367,2434,3702	AA,AG,GG		27.3837,18.4521,24.358		736/2225	169512120	3168,9838	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			TGACCTGATTCCT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2208C>T	1.37:g.169512120G>A		Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	241	241	1	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			G|0.758;A|0.242	0.242	strong		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169512120	G	A	169512120	2	1	23	1	0	0	0	0	0	0	0	1	5348	1280	45	2		2	F5	1	169512120	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27	169512120	79738501	373	16829			2	71	17225188	6	6	566	N	T_G_A	3.893772e-08
SELL	6402	hgsc.bcm.edu	37	chr1	169676486	169676486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggaaagagacttaccaaActgacactggggcccatagt	10	9	0	2	rs1131498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:169676486A>G	ENST00000236147.4	-	4	776	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	193	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GACTTACCAAACTGACACTGG	0.433													A|||	666	0.132987	0.1278	0.1801	5008	,	,		17777	0.005		0.2376	False		,,,				2504	0.1309				p.F206L		Atlas-SNP	.											.	SELL	43	.	0			c.T616C	GRCh37	CM004878	SELL	M	rs1131498	PASS	.	A	LEU/PHE	541,3247		36,469,1389	75	72	73	http://www.ncbi.nlm.nih.gov/pubmed?term	616	3.2	1	1	dbSNP_86	73	2204,6036		262,1680,2178	yes	missense	SELL	NM_000655.4	22	298,2149,3567	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	26.7476,14.2819,22.8217	benign	206/386	169676486	2745,9283	1894	4120	6014	SO:0001583	missense	6402	exon4			TACCAAACTGACA	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.616T>C	1.37:g.169676486A>G	ENSP00000236147:p.Phe206Leu	Somatic	240	2	0.00833333		WXS	Illumina HiSeq	Phase_I	316	310	0.981013	NM_000655	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	301	0.13782051282051283	47	0.09552845528455285	67	0.1850828729281768	3	0.005244755244755245	184	0.24274406332453827	A	14.06	2.422432	0.43020	0.142819	0.267476	ENSG00000188404	ENST00000236147	D	0.91180	-2.8	5.61	3.16	0.36331	Complement control module (1);	0.397771	0.21578	N	0.072293	T	0.77267	0.4105	M	0.65975	2.015	0.43377	P	0.0045239999999999725	B;B	0.22800	0.075;0.075	B;B	0.13407	0.009;0.009	T	0.64647	-0.6358	9	0.19590	T	0.45	.	5.6888	0.17817	0.6843:0.0:0.0767:0.2389	rs1131498;rs2229567;rs3177980;rs3191470;rs17417179;rs17526012;rs59082452;rs3177980	206;193	Q8WW79;P14151	.;LYAM1_HUMAN	L	206	ENSP00000236147:F206L	ENSP00000236147:F206L	F	-	1	0	SELL	167943110	0.002000	0.14202	0.997000	0.53966	0.990000	0.78478	0.396000	0.20867	1.064000	0.40671	0.533000	0.62120	TTT	A|0.861;G|0.139	0.139	strong		0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		G	169676486	A	G	169676486	3	3	23	1	0	0	0	0	1	0	0	0	14016	43	2	2	565	2	SELL	1	169676486	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	164366	169676486	79574135	374	16830										
C1orf129	80133	hgsc.bcm.edu	37	chr1	171033252	171033252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattacagttattgaacgacTgctccgagatgaagacccta	8	9	0	4	rs190157737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:171033252T>C	ENST00000367759.4	+	22	2511	c.2357T>C	c.(2356-2358)cTg>cCg	p.L786P		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	ATTGAACGACTGCTCCGAGAT	0.378													T|||	7	0.00139776	0.0	0.0014	5008	,	,		17701	0.0		0.005	False		,,,				2504	0.001				p.L786P		Atlas-SNP	.											.	.	.	.	0			c.T2357C						PASS	.						33	30	31					1																	171033252		692	1591	2283	SO:0001583	missense	80133	exon22			AACGACTGCTCCG	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.2357T>C	1.37:g.171033252T>C	ENSP00000356733:p.Leu786Pro	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	174	88	0.505747	NM_001163629	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367759.4	37	CCDS53429.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	T	13.37	2.216312	0.39201	.	.	ENSG00000117501	ENST00000367759	T	0.72167	-0.63	4.98	1.22	0.21188	.	.	.	.	.	T	0.43700	0.1259	N	0.24115	0.695	0.09310	N	0.999997	D	0.54964	0.969	P	0.51016	0.656	T	0.32666	-0.9898	9	0.87932	D	0	.	3.7455	0.08547	0.3354:0.0915:0.0:0.5731	.	786	F5GWX6	.	P	786	ENSP00000356733:L786P	ENSP00000356733:L786P	L	+	2	0	C1orf129	169299876	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.324000	0.19610	0.094000	0.17404	-0.333000	0.08304	CTG	T|0.998;C|0.002	0.002	strong		0.378	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025063		C	171033252	T	C	171033252	3	2	23	1	0	0	0	0	1	0	0	0	1996	1580	55	3	2565	3	C1orf129	1	171033252	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1356766	171033252	78217369	375	16831										
FMO2	2327	hgsc.bcm.edu	37	chr1	171154959	171154959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctttgagagaactgaagAtattggaggagtgtggaggt	16	2	0	4	rs2020870	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:171154959A>G	ENST00000209929.7	+	2	265	c.107A>G	c.(106-108)gAt>gGt	p.D36G	FMO2_ENST00000441535.1_Missense_Mutation_p.D36G|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	36					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACTGAAGATATTGGAGGA	0.453													A|||	461	0.0920527	0.0628	0.0447	5008	,	,		18771	0.1508		0.0586	False		,,,				2504	0.1391				p.D36G		Atlas-SNP	.											.	FMO2	66	.	0			c.A107G	GRCh37	CM033897	FMO2	M	rs2020870	PASS	.	A	GLY/ASP	290,4116	160.0+/-192.4	12,266,1925	254	244	248		107	5.7	1	1	dbSNP_98	248	583,8017	156.4+/-210.3	32,519,3749	yes	missense	FMO2	NM_001460.2	94	44,785,5674	GG,GA,AA		6.7791,6.5819,6.7123	benign	36/472	171154959	873,12133	2203	4300	6503	SO:0001583	missense	2327	exon2			CTGAAGATATTGG	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.107A>G	1.37:g.171154959A>G	ENSP00000209929:p.Asp36Gly	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	213	77	0.361502	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	178	0.0815018315018315	39	0.07926829268292683	16	0.04419889502762431	76	0.13286713286713286	47	0.06200527704485488	A	28.8	4.948795	0.92660	0.065819	0.067791	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.64085	-0.08;-0.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.78223	2.4	0.09310	P	0.99999530272	B	0.33212	0.402	P	0.44772	0.46	T	0.71896	-0.4454	9	0.72032	D	0.01	-28.1586	14.8692	0.70444	1.0:0.0:0.0:0.0	rs2020870;rs2266712;rs52821140;rs58458262;rs2020870	36	Q99518	FMO2_HUMAN	G	36	ENSP00000209929:D36G;ENSP00000405905:D36G	ENSP00000209929:D36G	D	+	2	0	FMO2	169421583	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	8.869000	0.92326	2.145000	0.66743	0.533000	0.62120	GAT	A|0.919;G|0.081	0.081	strong		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		G	171154959	A	G	171154959	3	3	23	1	0	0	0	0	1	0	0	0	5955	333	12	2	109	2	FMO2	1	171154959	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	121707	171154959	78095662	376	16832										
FMO4	2329	hgsc.bcm.edu	37	chr1	171303626	171303626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatcactatgaaaaccagcGtgattgaatttacagaaacc	6	9	1	4	rs573059844		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:171303626G>A	ENST00000367749.3	+	8	1234	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	302					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAAACCAGCGTGATTGAATT	0.378																																					p.V302M	Pancreas(24;816 862 7754 7993 32832)	Atlas-SNP	.											FMO4,caecum,carcinoma,0,1	FMO4	64	1	0			c.G904A						PASS	.						70	73	72					1																	171303626		2203	4300	6503	SO:0001583	missense	2329	exon8			ACCAGCGTGATTG	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.904G>A	1.37:g.171303626G>A	ENSP00000356723:p.Val302Met	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	170	51	0.3	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331649	0.41297	.	.	ENSG00000076258	ENST00000367749	T	0.61040	0.14	5.66	4.76	0.60689	.	0.135375	0.48286	D	0.000184	T	0.74680	0.3748	M	0.92880	3.355	0.46954	D	0.999265	D	0.89917	1.0	D	0.85130	0.997	T	0.80939	-0.1158	10	0.72032	D	0.01	-15.5018	10.7486	0.46196	0.1469:0.0:0.8531:0.0	.	302	P31512	FMO4_HUMAN	M	302	ENSP00000356723:V302M	ENSP00000356723:V302M	V	+	1	0	FMO4	169570250	0.823000	0.29233	0.380000	0.26093	0.043000	0.13939	1.146000	0.31589	1.387000	0.46486	-0.128000	0.14901	GTG	.	.	none		0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		A	171303626	G	A	171303626	3	1	23	1	0	0	0	0	1	0	0	0	5957	1145	40	1	926	1	FMO4	1	171303626	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	148667	171303626	77946995	377	16833										
FMO4	2329	hgsc.bcm.edu	37	chr1	171303810	171303810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccttaaacctagagagagCgacattagccatcatcggcc	8	13	1	2	rs144578261	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:171303810C>T	ENST00000367749.3	+	8	1418	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	363					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTAGAGAGAGCGACATTAGCC	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		19559	0.0		0.0	False		,,,				2504	0.002				p.A363V	Pancreas(24;816 862 7754 7993 32832)	Atlas-SNP	.											FMO4,NS,NS,-1,1	FMO4	64	1	0			c.C1088T						scavenged	.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87	88	88		1088	5.6	0.1	1	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FMO4	NM_002022.1	64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	363/559	171303810	4,13002	2203	4300	6503	SO:0001583	missense	2329	exon8			AGAGAGCGACATT	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1088C>T	1.37:g.171303810C>T	ENSP00000356723:p.Ala363Val	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	156	63	0.403846	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966086	0.53507	2.27E-4	3.49E-4	ENSG00000076258	ENST00000367749	T	0.58060	0.36	5.63	5.63	0.86233	.	0.633406	0.17137	N	0.185613	T	0.43919	0.1269	M	0.66939	2.045	0.38079	D	0.936608	P	0.38048	0.616	B	0.33568	0.166	T	0.56780	-0.7922	10	0.87932	D	0	-2.4899	19.2618	0.93971	0.0:1.0:0.0:0.0	.	363	P31512	FMO4_HUMAN	V	363	ENSP00000356723:A363V	ENSP00000356723:A363V	A	+	2	0	FMO4	169570434	0.106000	0.21978	0.117000	0.21633	0.428000	0.31595	3.801000	0.55545	2.632000	0.89209	0.650000	0.86243	GCG	C|1.000;T|0.000	0.000	weak		0.403	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		T	171303810	C	T	171303810	3	4	23	1	0	0	0	0	1	0	0	0	5957	768	27	1	1110	1	FMO4	1	171303810	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	184	171303810	77946811	378	16834										
BAT2L2	23215	hgsc.bcm.edu	37	chr1	171486912	171486912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaaactgaatggacagcagGctgctctcgcttcccagtat	9	12	1	1	rs10913157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:171486912G>A	ENST00000338920.4	+	6	940	c.703G>A	c.(703-705)Gct>Act	p.A235T	PRRC2C_ENST00000392078.3_Missense_Mutation_p.A237T|RNU6-773P_ENST00000364256.1_RNA|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A235T|PRRC2C_ENST00000367742.3_Missense_Mutation_p.A237T|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	235			A -> T (in dbSNP:rs10913157).		hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGGACAGCAGGCTGCTCTCGC	0.448													G|||	653	0.130391	0.0628	0.1081	5008	,	,		19825	0.2371		0.1342	False		,,,				2504	0.1237				p.A235T		Atlas-SNP	.											.	.	.	.	0			c.G703A						PASS	.	G	THR/ALA	330,4076	174.4+/-204.0	13,304,1886	80	76	78		703	2.3	0.4	1	dbSNP_120	78	1150,7450	236.9+/-269.0	82,986,3232	yes	missense	PRRC2C	NM_015172.3	58	95,1290,5118	AA,AG,GG		13.3721,7.4898,11.3794	benign	235/2818	171486912	1480,11526	2203	4300	6503	SO:0001583	missense	23215	exon6			CAGCAGGCTGCTC	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.703G>A	1.37:g.171486912G>A	ENSP00000343629:p.Ala235Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	138	94	0.681159	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	311	0.1423992673992674	24	0.04878048780487805	39	0.10773480662983426	142	0.24825174825174826	106	0.13984168865435356	G	12.38	1.921855	0.33908	0.074898	0.133721	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	T;T;T;T	0.01854	4.6;4.6;4.6;4.6	5.38	2.34	0.29019	.	0.475392	0.17610	N	0.168118	T	0.00552	0.0018	N	0.08118	0	0.48696	P	3.069999999999462E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.48885	-0.8995	9	0.42905	T	0.14	.	11.0083	0.47649	0.145:0.6035:0.2515:0.0	rs10913157;rs52814203;rs58301963;rs10913157	235;237	Q9Y520-4;E7EPN9	.;.	T	237;235;235;237;235	ENSP00000375928:A237T;ENSP00000410219:A235T;ENSP00000356716:A237T;ENSP00000343629:A235T	ENSP00000343629:A235T	A	+	1	0	PRRC2C	169753536	0.998000	0.40836	0.431000	0.26735	0.964000	0.63967	1.014000	0.29950	0.183000	0.20059	-0.302000	0.09304	GCT	G|0.869;A|0.131	0.131	strong		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171486912	G	A	171486912	3	1	23	1	0	0	0	0	1	0	0	0	1321	1203	42	2	721	2	BAT2L2	1	171486912	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	183102	171486912	77763709	379	16835										
C1orf105	92346	hgsc.bcm.edu	37	chr1	172431333	172431333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaggtacaaccaagaacaAtgaaaatcccagatgatcca	7	9	0	5	rs16844498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:172431333A>G	ENST00000367727.4	+	5	487	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	C1orf105_ENST00000367725.4_Missense_Mutation_p.M87V|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	97			M -> V (in dbSNP:rs16844498).							large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						ACCAAGAACAATGAAAATCCC	0.318													A|||	220	0.0439297	0.0272	0.049	5008	,	,		20279	0.0		0.0875	False		,,,				2504	0.0634				p.M97V		Atlas-SNP	.											.	C1orf105	24	.	0			c.A289G						PASS	.	A	VAL/MET	137,4269	98.5+/-137.1	2,133,2068	97	91	93		289	-8.5	0	1	dbSNP_123	93	515,8085	145.4+/-201.1	19,477,3804	yes	missense	C1orf105	NM_139240.3	21	21,610,5872	GG,GA,AA		5.9884,3.1094,5.0131	benign	97/184	172431333	652,12354	2203	4300	6503	SO:0001583	missense	92346	exon5			AGAACAATGAAAA	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.289A>G	1.37:g.172431333A>G	ENSP00000356700:p.Met97Val	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	338	114	0.337278	NM_139240	Q8IY02	Missense_Mutation	SNP	ENST00000367727.4	37	CCDS1301.1	102	0.046703296703296704	14	0.028455284552845527	17	0.04696132596685083	0	0.0	71	0.09366754617414248	A	0.006	-2.077666	0.00375	0.031094	0.059884	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.33438	1.41;1.41;1.41	4.26	-8.53	0.00916	.	1.919010	0.02269	N	0.068313	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06162	-1.0842	10	0.33141	T	0.24	0.3528	0.2515	0.00206	0.3358:0.2407:0.1748:0.2487	rs16844498;rs52830958;rs16844498	97	O95561	CA105_HUMAN	V	97;68;87	ENSP00000356700:M97V;ENSP00000431442:M68V;ENSP00000356698:M87V	ENSP00000356698:M87V	M	+	1	0	C1orf105	170697956	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.598000	0.00419	-4.449000	0.00048	-1.937000	0.00501	ATG	A|0.949;G|0.051	0.051	strong		0.318	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		G	172431333	A	G	172431333	3	3	23	1	0	0	0	0	1	0	0	0	1979	101	4	2	307	2	C1orf105	1	172431333	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	944421	172431333	76819288	380	16836										
C1orf105	92346	hgsc.bcm.edu	37	chr1	172431386	172431386	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaattgtatgagttatagGtaagtcaacaatttaaatca	8	3	2	2	rs41310899	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:172431386G>A	ENST00000367727.4	+	5	539		c.e5+1		C1orf105_ENST00000367725.4_Splice_Site|C1orf105_ENST00000367726.1_Splice_Site	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105											large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGAGTTATAGGTAAGTCAACA	0.368													G|||	220	0.0439297	0.0272	0.049	5008	,	,		18977	0.0		0.0875	False		,,,				2504	0.0634				.		Atlas-SNP	.											.	C1orf105	24	.	0			c.341+1G>A						PASS	.	G		137,4269	98.5+/-137.1	2,133,2068	88	82	84			4.3	0.9	1	dbSNP_127	84	516,8084	144.7+/-200.5	19,478,3803	yes	splice-5	C1orf105	NM_139240.3		21,611,5871	AA,AG,GG		6.0,3.1094,5.0208			172431386	653,12353	2203	4300	6503	SO:0001630	splice_region_variant	92346	exon5			TTATAGGTAAGTC	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.341+1G>A	1.37:g.172431386G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	255	76	0.298039	NM_139240	Q8IY02	Splice_Site	SNP	ENST00000367727.4	37	CCDS1301.1	102	0.046703296703296704	14	0.028455284552845527	17	0.04696132596685083	0	0.0	71	0.09366754617414248	G	13.48	2.249473	0.39797	0.031094	0.06	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4933	0.55912	0.0:0.0:1.0:0.0	rs41310899	.	.	.	.	-1	.	.	.	+	.	.	C1orf105	170698009	1.000000	0.71417	0.872000	0.34217	0.510000	0.34073	3.673000	0.54591	2.659000	0.90383	0.655000	0.94253	.	G|0.948;A|0.052	0.052	strong		0.368	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240	Intron	A	172431386	G	A	172431386	5	1	23	1	0	0	0	0	0	0	1	0	1979	1275	44	2	360	2	C1orf105	1	172431386	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	53	172431386	76819235	381	16837										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173474429	173474429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgggtaagctcagatgcTtggattatcagcagcttgct	11	8	2	1	rs12026637	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:173474429T>C	ENST00000367714.3	-	26	3689	c.3267A>G	c.(3265-3267)caA>caG	p.Q1089Q	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1089					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GCTCAGATGCTTGGATTATCA	0.398													T|||	1524	0.304313	0.0136	0.3213	5008	,	,		20902	0.6448		0.2087	False		,,,				2504	0.4325				p.Q1089Q		Atlas-SNP	.											.	.	.	.	0			c.A3267G						PASS	.	T		212,4194	127.8+/-164.7	7,198,1998	126	115	118		3267	2.8	0	1	dbSNP_120	118	1782,6818	320.8+/-314.8	185,1412,2703	no	coding-synonymous	SLC9A11	NM_178527.3		192,1610,4701	CC,CT,TT		20.7209,4.8116,15.3314		1089/1125	173474429	1994,11012	2203	4300	6503	SO:0001819	synonymous_variant	284525	exon26			AGATGCTTGGATT	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.3267A>G	1.37:g.173474429T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	165	51	0.309091	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			T|0.805;C|0.195	0.195	strong		0.398	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		C	173474429	T	C	173474429	2	2	23	1	0	0	0	0	0	0	0	1	14711	1606	56	3		3	SLC9A11	1	173474429	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1043043	173474429	75776192	382	16838										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173516871	173516871	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctggcttcctccattaaaGcttcatctgttgtggattct	7	10	4	0	rs16846206	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:173516871G>C	ENST00000367714.3	-	13	1936	c.1514C>G	c.(1513-1515)gCt>gGt	p.A505G	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A403G	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	505			A -> G (in dbSNP:rs16846206).		sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CTCCATTAAAGCTTCATCTGT	0.348													G|||	1676	0.334665	0.1293	0.3256	5008	,	,		18034	0.6448		0.2107	False		,,,				2504	0.4264				p.A505G		Atlas-SNP	.											.	.	.	.	0			c.C1514G						PASS	.	G	GLY/ALA	584,3822	256.7+/-261.4	38,508,1657	158	142	147		1514	-0.2	1	1	dbSNP_123	147	1771,6829	319.3+/-314.1	183,1405,2712	yes	missense	SLC9A11	NM_178527.3	60	221,1913,4369	CC,CG,GG		20.593,13.2547,18.107	benign	505/1125	173516871	2355,10651	2203	4300	6503	SO:0001583	missense	284525	exon13			ATTAAAGCTTCAT	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1514C>G	1.37:g.173516871G>C	ENSP00000356687:p.Ala505Gly	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	226	80	0.353982	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	700	0.32051282051282054	69	0.1402439024390244	112	0.30939226519337015	355	0.6206293706293706	164	0.21635883905013192	G	10.10	1.258637	0.23051	0.132547	0.20593	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.25414	1.8;1.8	5.5	-0.206	0.13193	.	0.673556	0.13000	N	0.421735	T	0.03053	0.0090	N	0.08118	0	0.46241	P	0.0010580000000000034	B	0.27068	0.167	B	0.21360	0.034	T	0.42068	-0.9473	9	0.30854	T	0.27	-6.9082	4.5975	0.12336	0.3998:0.0:0.0905:0.5097	rs16846206;rs52835556;rs61192359;rs16846206	505	Q5TAH2	S9A11_HUMAN	G	505;403	ENSP00000356687:A505G;ENSP00000445437:A403G	ENSP00000356687:A505G	A	-	2	0	SLC9A11	171783494	0.999000	0.42202	0.997000	0.53966	0.401000	0.30781	0.324000	0.19610	0.035000	0.15519	-0.440000	0.05779	GCT	G|0.763;C|0.237	0.237	strong		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		C	173516871	G	C	173516871	3	2	23	1	0	0	0	0	1	0	0	0	14711	971	34	4	1924	4	SLC9A11	1	173516871	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	42442	173516871	75733750	383	16839										
SLC9A11	284525	hgsc.bcm.edu	37	chr1	173516903	173516903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggattctgtcttcatatcAttatgtgaaacgtgggaaaa	10	5	4	1	rs10494490	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:173516903A>G	ENST00000367714.3	-	13	1904	c.1482T>C	c.(1480-1482)aaT>aaC	p.N494N	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.N392N	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	494					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTCATATCATTATGTGAAA	0.338													G|||	2430	0.485224	0.671	0.3732	5008	,	,		18236	0.6448		0.2147	False		,,,				2504	0.4274				p.N494N		Atlas-SNP	.											SLC9A11,NS,carcinoma,-2,1	.	.	1	0			c.T1482C						PASS	.	G		2607,1799	529.7+/-372.7	790,1027,386	148	131	137		1482	-3.2	0	1	dbSNP_119	137	1797,6803	733.2+/-406.9	188,1421,2691	no	coding-synonymous	SLC9A11	NM_178527.3		978,2448,3077	GG,GA,AA		20.8953,40.8307,33.8613		494/1125	173516903	4404,8602	2203	4300	6503	SO:0001819	synonymous_variant	284525	exon13			CATATCATTATGT	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1482T>C	1.37:g.173516903A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	207	71	0.342995	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			A|0.637;G|0.363	0.363	strong		0.338	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		G	173516903	A	G	173516903	2	3	23	1	0	0	0	0	0	0	0	1	14711	214	8	2		2	SLC9A11	1	173516903	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	32	173516903	75733718	384	16840										
TNN	63923	hgsc.bcm.edu	37	chr1	175087729	175087729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaaaacctggtcactgacTgggtgacagagaatacagcc	10	12	1	3	rs6696455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:175087729T>C	ENST00000239462.4	+	11	2532	c.2419T>C	c.(2419-2421)Tgg>Cgg	p.W807R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	807	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.		W -> R (in dbSNP:rs6696455).		axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTCACTGACTGGGTGACAGA	0.517													C|||	2370	0.473243	0.91	0.3818	5008	,	,		18720	0.0704		0.4513	False		,,,				2504	0.3855				p.W807R		Atlas-SNP	.											.	TNN	297	.	0			c.T2419C						PASS	.	C	ARG/TRP	3632,774	310.5+/-291.6	1501,630,72	55	60	58		2419	0.9	0	1	dbSNP_116	58	3790,4810	611.1+/-395.8	827,2136,1337	yes	missense	TNN	NM_022093.1	101	2328,2766,1409	CC,CT,TT		44.0698,17.567,42.934	benign	807/1300	175087729	7422,5584	2203	4300	6503	SO:0001583	missense	63923	exon11			ACTGACTGGGTGA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2419T>C	1.37:g.175087729T>C	ENSP00000239462:p.Trp807Arg	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	181	179	0.98895	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	929	0.42536630036630035	418	0.8495934959349594	139	0.3839779005524862	44	0.07692307692307693	328	0.43271767810026385	C	0.009	-1.837943	0.00573	0.82433	0.440698	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.55588	0.51	5.17	0.856	0.19019	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.988879	0.08265	N	0.972365	T	0.00012	0.0000	N	0.00185	-1.9	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.32508	-0.9904	9	0.32370	T	0.25	.	4.7145	0.12889	0.3345:0.2723:0.3273:0.0659	rs6696455;rs52819008;rs56969638;rs6696455	807	Q9UQP3	TENN_HUMAN	R	807;630	ENSP00000239462:W807R	ENSP00000239462:W807R	W	+	1	0	TNN	173354352	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.030000	0.12308	-0.249000	0.09569	-1.619000	0.00793	TGG	T|0.488;C|0.512	0.512	strong		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175087729	T	C	175087729	3	2	23	1	0	0	0	0	1	0	0	0	16320	1580	55	3	2457	3	TNN	1	175087729	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1570826	175087729	74162892	385	16841										
TNN	63923	hgsc.bcm.edu	37	chr1	175105996	175105996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcaccaccggcactccagCgcggtatgaggtgagagtgg	14	13	1	2	rs2072036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:175105996C>T	ENST00000239462.4	+	17	3580	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		A -> V (in dbSNP:rs2072036).		axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCACTCCAGCGCGGTATGAG	0.453													C|||	608	0.121406	0.0961	0.1052	5008	,	,		19829	0.2123		0.0905	False		,,,				2504	0.1053				p.A1156V		Atlas-SNP	.											TNN,bladder,carcinoma,-1,1	TNN	297	1	0			c.C3467T						PASS	.	C	VAL/ALA	405,4001	201.8+/-224.7	22,361,1820	84	78	80		3467	1.9	0	1	dbSNP_96	80	770,7830	183.2+/-231.5	26,718,3556	yes	missense	TNN	NM_022093.1	64	48,1079,5376	TT,TC,CC		8.9535,9.192,9.0343	benign	1156/1300	175105996	1175,11831	2203	4300	6503	SO:0001583	missense	63923	exon17			CTCCAGCGCGGTA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3467C>T	1.37:g.175105996C>T	ENSP00000239462:p.Ala1156Val	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	121	81	0.669421	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	293	0.13415750915750915	55	0.11178861788617886	34	0.09392265193370165	136	0.23776223776223776	68	0.08970976253298153	C	2.604	-0.292295	0.05568	0.09192	0.089535	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26223	1.75	5.27	1.92	0.25849	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.397573	0.29730	N	0.011357	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	9	0.52906	T	0.07	.	4.2092	0.10503	0.0:0.5171:0.1689:0.314	rs2072036;rs52836593;rs2072036	1156	Q9UQP3	TENN_HUMAN	V	1156;979	ENSP00000239462:A1156V	ENSP00000239462:A1156V	A	+	2	0	TNN	173372619	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	0.590000	0.23954	0.750000	0.32877	-0.710000	0.03640	GCG	C|0.889;T|0.111	0.111	strong		0.453	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175105996	C	T	175105996	3	4	23	1	0	0	0	0	1	0	0	0	16320	768	27	1	3529	1	TNN	1	175105996	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18267	175105996	74144625	386	16842										
TNR	7143	hgsc.bcm.edu	37	chr1	175335234	175335234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagggagatggaggtctcCgaggaggctgtcaccatgag	17	7	2	3	rs1385541	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:175335234C>T	ENST00000367674.2	-	11	2802	c.2094G>A	c.(2092-2094)tcG>tcA	p.S698S	TNR_ENST00000263525.2_Silent_p.S698S			Q92752	TENR_HUMAN	tenascin R	698	Fibronectin type-III 5. {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)					TGGAGGTCTCCGAGGAGGCTG	0.522													C|||	832	0.166134	0.1483	0.1974	5008	,	,		22079	0.1042		0.2445	False		,,,				2504	0.1513				p.S698S		Atlas-SNP	.											.	TNR	399	.	0			c.G2094A						PASS	.	C		604,3802	264.1+/-265.8	53,498,1652	116	94	102		2094	-11.8	0.5	1	dbSNP_88	102	2089,6511	360.6+/-332.0	258,1573,2469	no	coding-synonymous	TNR	NM_003285.2		311,2071,4121	TT,TC,CC		24.2907,13.7086,20.7058		698/1359	175335234	2693,10313	2203	4300	6503	SO:0001819	synonymous_variant	7143	exon11			GGTCTCCGAGGAG	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.2094G>A	1.37:g.175335234C>T		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	308	114	0.37013	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			C|0.809;T|0.191	0.191	strong		0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175335234	C	T	175335234	2	4	23	1	0	0	0	0	0	0	0	1	16335	639	23	1		1	TNR	1	175335234	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	229238	175335234	73915387	387	16843										
TNR	7143	hgsc.bcm.edu	37	chr1	175375469	175375469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcacctgggctgaactggCacatggacaggcctttttgg	13	11	0	1	rs2239819	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:175375469C>A	ENST00000367674.2	-	3	1090	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	TNR_ENST00000263525.2_Missense_Mutation_p.A128S			Q92752	TENR_HUMAN	tenascin R	128			A -> S (in dbSNP:rs2239819).		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)					GCTGAACTGGCACATGGACAG	0.592													C|||	1438	0.287141	0.0885	0.3617	5008	,	,		21685	0.5179		0.2525	False		,,,				2504	0.3006				p.A128S		Atlas-SNP	.											TNR,NS,carcinoma,0,1	TNR	399	1	0			c.G382T						scavenged	.	C	SER/ALA	582,3824	255.8+/-260.9	47,488,1668	167	144	152		382	2	0	1	dbSNP_98	152	2331,6269	391.0+/-343.5	324,1683,2293	yes	missense	TNR	NM_003285.2	99	371,2171,3961	AA,AC,CC		27.1047,13.2093,22.3974	benign	128/1359	175375469	2913,10093	2203	4300	6503	SO:0001583	missense	7143	exon3			AACTGGCACATGG	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.382G>T	1.37:g.175375469C>A	ENSP00000356646:p.Ala128Ser	Somatic	301	2	0.00664452		WXS	Illumina HiSeq	Phase_I	365	225	0.616438	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	655|655	0.2999084249084249|0.2999084249084249	47|47	0.09552845528455285|0.09552845528455285	119|119	0.3287292817679558|0.3287292817679558	302|302	0.527972027972028|0.527972027972028	187|187	0.24670184696569922|0.24670184696569922	C|C	2.025|2.025	-0.423785|-0.423785	0.04734|0.04734	0.132093|0.132093	0.271047|0.271047	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|T	0.34859|0.17691	1.34;1.34|2.26	5.24|5.24	2.0|2.0	0.26442|0.26442	.|.	0.180815|.	0.49916|.	N|.	0.000132|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.14438|.	0.01;0.001|.	B;B|.	0.12156|.	0.007;0.004|.	T|T	0.41161|0.41161	-0.9524|-0.9524	9|6	0.25751|0.51188	T|T	0.34|0.08	.|.	8.009|8.009	0.30342|0.30342	0.4168:0.4977:0.0:0.0854|0.4168:0.4977:0.0:0.0854	rs2239819;rs52814246;rs57824138;rs2239819|rs2239819;rs52814246;rs57824138;rs2239819	128;128|.	B4DIX8;Q92752|.	.;TENR_HUMAN|.	S|F	128|11	ENSP00000356646:A128S;ENSP00000263525:A128S|ENSP00000403413:C11F	ENSP00000263525:A128S|ENSP00000403413:C11F	A|C	-|-	1|2	0|0	TNR|TNR	173642092|173642092	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.561000|0.561000	0.35649|0.35649	3.195000|3.195000	0.51013|0.51013	0.577000|0.577000	0.29470|0.29470	0.561000|0.561000	0.74099|0.74099	GCC|TGC	C|0.755;N|0.000	.	strong		0.592	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175375469	C	A	175375469	3	1	23	1	0	0	0	0	1	0	0	0	16335	710	25	4	3778	4	TNR	1	175375469	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40235	175375469	73875152	388	16844										
ASTN1	460	hgsc.bcm.edu	37	chr1	176992553	176992553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcctaccagtttcggggtcAcattggtgttcacaggggtc	13	11	2	0	rs172917	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:176992553A>G	ENST00000367654.3	-	7	1636	c.1425T>C	c.(1423-1425)tgT>tgC	p.C475C	ASTN1_ENST00000367657.3_Silent_p.C475C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.C475C|ASTN1_ENST00000424564.2_Silent_p.C475C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	475	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTCGGGGTCACATTGGTGTT	0.597													G|||	2575	0.514177	0.792	0.4957	5008	,	,		16580	0.2054		0.5895	False		,,,				2504	0.3926				p.C475C		Atlas-SNP	.											.	ASTN1	314	.	0			c.T1425C						PASS	.	G	,	3227,1177		1181,865,156	25	24	24		1425,1425	-2.7	1	1	dbSNP_79	24	5122,3478		1535,2052,713	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	2716,2917,869	GG,GA,AA		40.4419,26.7257,35.7967	,	475/1295,475/1217	176992553	8349,4655	2202	4300	6502	SO:0001819	synonymous_variant	460	exon7			GGGGTCACATTGG	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1425T>C	1.37:g.176992553A>G		Somatic	204	1	0.00490196		WXS	Illumina HiSeq	Phase_I	280	278	0.992857	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																				A|0.423;G|0.577	0.577	strong		0.597	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		G	176992553	A	G	176992553	2	3	23	1	0	0	0	0	0	0	0	1	1064	157	6	2		2	ASTN1	1	176992553	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1617084	176992553	72258068	389	16845										
ASTN1	460	hgsc.bcm.edu	37	chr1	177001896	177001896	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcactcttctggggctgCgggacccggcggcgtttgca	16	13	2	0	rs2076069	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:177001896C>G	ENST00000367654.3	-	3	772	c.561G>C	c.(559-561)ccG>ccC	p.P187P	ASTN1_ENST00000367657.3_Silent_p.P187P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.P187P|ASTN1_ENST00000424564.2_Silent_p.P187P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	187					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGGGGCTGCGGGACCCGGC	0.612													G|||	751	0.14996	0.0272	0.2118	5008	,	,		17437	0.2599		0.1471	False		,,,				2504	0.1616				p.P187P		Atlas-SNP	.											.	ASTN1	314	.	0			c.G561C						PASS	.	G	,	228,4178	789.4+/-415.0	3,222,1978	38	39	38		561,561	-1.3	0.9	1	dbSNP_96	38	1418,7182	736.8+/-407.0	119,1180,3001	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	122,1402,4979	GG,GC,CC		16.4884,5.1748,12.6557	,	187/1295,187/1217	177001896	1646,11360	2203	4300	6503	SO:0001819	synonymous_variant	460	exon3			GGGCTGCGGGACC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.561G>C	1.37:g.177001896C>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	76	75	0.986842	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																				C|0.864;G|0.136	0.136	strong		0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		G	177001896	C	G	177001896	2	3	23	1	0	0	0	0	0	0	0	1	1064	755	27	4		4	ASTN1	1	177001896	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9343	177001896	72248725	390	16846										
SEC16B	89866	hgsc.bcm.edu	37	chr1	177935050	177935050	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttcttcctgcagccactgTgggtgtccatgatagtaata	9	10	1	1	rs1889981	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:177935050T>A	ENST00000308284.6	-	3	479	c.390A>T	c.(388-390)ccA>ccT	p.P130P	SEC16B_ENST00000464631.2_Silent_p.P130P|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	130	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.P130P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGCCACTGTGGGTGTCCAT	0.478													T|||	1039	0.207468	0.0772	0.1988	5008	,	,		18014	0.3284		0.2167	False		,,,				2504	0.2556				p.P130P		Atlas-SNP	.											SEC16B,NS,carcinoma,0,1	SEC16B	92	1	1	Substitution - coding silent(1)	stomach(1)	c.A390T						PASS	.	T		377,3337		17,343,1497	91	83	85		390	-10.7	0	1	dbSNP_92	85	1938,6316		231,1476,2420	no	coding-synonymous	SEC16B	NM_033127.2		248,1819,3917	AA,AT,TT		23.4795,10.1508,19.3432		130/1061	177935050	2315,9653	1857	4127	5984	SO:0001819	synonymous_variant	89866	exon3			CCACTGTGGGTGT	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.390A>T	1.37:g.177935050T>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	171	111	0.649123	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1																																																																																			T|0.786;A|0.214	0.214	strong		0.478	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		A	177935050	T	A	177935050	2	1	23	1	0	0	0	0	0	0	0	1	13987	1683	59	5		5	SEC16B	1	177935050	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	933154	177935050	71315571	391	16847										
RALGPS2	55103	hgsc.bcm.edu	37	chr1	178861391	178861391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attataccattctctcggccCggtgacaagagtggcacgaa	10	11	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:178861391C>T	ENST00000367635.3	+	15	1612	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000477383.1_Intron	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	425					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTCTCGGCCCGGTGACAAGA	0.418																																					p.P425L		Atlas-SNP	.											RALGPS2,NS,carcinoma,-1,1	RALGPS2	69	1	0			c.C1274T						scavenged	.						77	82	80					1																	178861391		2203	4300	6503	SO:0001583	missense	55103	exon15			TCGGCCCGGTGAC	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1274C>T	1.37:g.178861391C>T	ENSP00000356607:p.Pro425Leu	Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	498	5	0.0100402	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134580	0.77662	.	.	ENSG00000116191	ENST00000367635;ENST00000324778;ENST00000535251	T;T	0.24151	1.98;1.87	5.52	5.52	0.82312	.	0.127266	0.53938	D	0.000051	T	0.30198	0.0757	N	0.22421	0.69	0.80722	D	1	D	0.71674	0.998	P	0.51701	0.677	T	0.02676	-1.1125	10	0.51188	T	0.08	.	19.0251	0.92929	0.0:1.0:0.0:0.0	.	425	Q86X27	RGPS2_HUMAN	L	425;390;74	ENSP00000356607:P425L;ENSP00000313613:P390L	ENSP00000313613:P390L	P	+	2	0	RALGPS2	177128014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.254000	0.78329	2.589000	0.87451	0.591000	0.81541	CCG	.	.	none		0.418	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		T	178861391	C	T	178861391	3	4	23	1	0	0	0	0	1	0	0	0	13018	652	23	1	1328	1	RALGPS2	1	178861391	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	926341	178861391	70389230	392	16848										
SOAT1	6646	hgsc.bcm.edu	37	chr1	179312752	179312752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgtaagatggggttatgtCgctatgaagtttgcacaggt	13	5	0	2	rs10753191	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:179312752C>T	ENST00000367619.3	+	10	1112	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SOAT1_ENST00000535686.1_Silent_p.V59V|SOAT1_ENST00000540564.1_Silent_p.V265V|SOAT1_ENST00000539888.1_Silent_p.V258V	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	323					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGGTTATGTCGCTATGAAGT	0.313													C|||	1315	0.26258	0.3472	0.2882	5008	,	,		16006	0.3542		0.1302	False		,,,				2504	0.1718				p.V323V		Atlas-SNP	.											.	SOAT1	53	.	0			c.C969T						PASS	.	C		1388,3018	446.7+/-348.1	218,952,1033	137	135	136		969	-10.6	0.6	1	dbSNP_120	136	1210,7390	242.9+/-272.7	89,1032,3179	no	coding-synonymous	SOAT1	NM_003101.4		307,1984,4212	TT,TC,CC		14.0698,31.5025,19.9754		323/551	179312752	2598,10408	2203	4300	6503	SO:0001819	synonymous_variant	6646	exon10			TTATGTCGCTATG	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.969C>T	1.37:g.179312752C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	135	134	0.992593	NM_003101	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	CCDS1330.1																																																																																			C|0.768;N|0.000	.	strong		0.313	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		T	179312752	C	T	179312752	2	4	23	1	0	0	0	0	0	0	0	1	14910	871	31	1		1	SOAT1	1	179312752	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	451361	179312752	69937869	393	16849										
SOAT1	6646	hgsc.bcm.edu	37	chr1	179319541	179319541	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctttttctatcccgtgctCttcgtgctcttcatgttctt	6	12	5	0	rs3753526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:179319541C>G	ENST00000367619.3	+	14	1568	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	SOAT1_ENST00000535686.1_Silent_p.L211L|SOAT1_ENST00000540564.1_Silent_p.L417L|SOAT1_ENST00000539888.1_Silent_p.L410L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	475					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATCCCGTGCTCTTCGTGCTCT	0.398													C|||	838	0.167332	0.0734	0.2277	5008	,	,		18150	0.3552		0.0746	False		,,,				2504	0.1534				p.L475L		Atlas-SNP	.											.	SOAT1	53	.	0			c.C1425G						PASS	.	C		316,4090	169.4+/-200.1	10,296,1897	220	187	199		1425	1.5	1	1	dbSNP_107	199	635,7965	163.8+/-216.2	22,591,3687	no	coding-synonymous	SOAT1	NM_003101.4		32,887,5584	GG,GC,CC		7.3837,7.172,7.312		475/551	179319541	951,12055	2203	4300	6503	SO:0001819	synonymous_variant	6646	exon14			CGTGCTCTTCGTG	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1425C>G	1.37:g.179319541C>G		Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	502	498	0.992032	NM_003101	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	CCDS1330.1																																																																																			C|0.891;G|0.109	0.109	strong		0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		G	179319541	C	G	179319541	2	3	23	1	0	0	0	0	0	0	0	1	14910	900	32	4		4	SOAT1	1	179319541	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6789	179319541	69931080	394	16850										
SOAT1	6646	hgsc.bcm.edu	37	chr1	179320578	179320578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaagaatggtatgcacgtcAgcactgtcctctgaaaaatg	9	9	3	2	rs13306731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:179320578A>G	ENST00000367619.3	+	15	1720	c.1577A>G	c.(1576-1578)cAg>cGg	p.Q526R	SOAT1_ENST00000535686.1_Missense_Mutation_p.Q262R|SOAT1_ENST00000540564.1_Missense_Mutation_p.Q468R|SOAT1_ENST00000539888.1_Missense_Mutation_p.Q461R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	526			Q -> R (in dbSNP:rs13306731). {ECO:0000269|PubMed:8407899}.		cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TATGCACGTCAGCACTGTCCT	0.438													A|||	626	0.125	0.0053	0.1499	5008	,	,		17986	0.3016		0.0736	False		,,,				2504	0.1401				p.Q526R		Atlas-SNP	.											.	SOAT1	53	.	0			c.A1577G						PASS	.	A	ARG/GLN	76,4330	67.0+/-104.6	1,74,2128	193	179	184		1577	5.6	1	1	dbSNP_121	184	632,7968	163.5+/-216.0	22,588,3690	yes	missense	SOAT1	NM_003101.4	43	23,662,5818	GG,GA,AA		7.3488,1.7249,5.4436	benign	526/551	179320578	708,12298	2203	4300	6503	SO:0001583	missense	6646	exon15			CACGTCAGCACTG	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1577A>G	1.37:g.179320578A>G	ENSP00000356591:p.Gln526Arg	Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	316	309	0.977848	NM_003101	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	CCDS1330.1	270	0.12362637362637363	4	0.008130081300813009	35	0.09668508287292818	173	0.30244755244755245	58	0.07651715039577836	A	3.499	-0.102232	0.06967	0.017249	0.073488	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.30182	1.56;1.56;1.59;1.54	5.58	5.58	0.84498	.	0.226336	0.43747	D	0.000530	T	0.00012	0.0000	N	0.04746	-0.17	0.29657	P	0.843493	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30179	-0.9987	9	0.02654	T	1	-4.7383	8.2832	0.31913	0.9124:0.0:0.0876:0.0	rs13306731;rs52792572;rs61194290;rs13306731	468;526	A8K3P4;P35610	.;SOAT1_HUMAN	R	461;468;262;526	ENSP00000441356:Q461R;ENSP00000445315:Q468R;ENSP00000442503:Q262R;ENSP00000356591:Q526R	ENSP00000356591:Q526R	Q	+	2	0	SOAT1	177587201	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.970000	0.40520	2.117000	0.64856	0.460000	0.39030	CAG	A|0.904;G|0.095	0.095	strong		0.438	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		G	179320578	A	G	179320578	3	3	23	1	0	0	0	0	1	0	0	0	14910	188	7	3	1631	3	SOAT1	1	179320578	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1037	179320578	69930043	395	16851										
TDRD5	163589	hgsc.bcm.edu	37	chr1	179600001	179600001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctccatgttgagttcaggAaaggacaccaagacttacta	8	9	2	2	rs6704505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:179600001A>G	ENST00000367614.1	+	7	1431	c.1072A>G	c.(1072-1074)Aaa>Gaa	p.K358E	TDRD5_ENST00000444136.1_Missense_Mutation_p.K358E|TDRD5_ENST00000294848.8_Missense_Mutation_p.K358E	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	358	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.		K -> E (in dbSNP:rs6704505).		DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAGTTCAGGAAAGGACACCA	0.393													G|||	397	0.0792732	0.0908	0.0447	5008	,	,		16652	0.1081		0.0855	False		,,,				2504	0.0521				p.K358E		Atlas-SNP	.											.	TDRD5	149	.	0			c.A1072G						PASS	.	G	GLU/LYS,GLU/LYS,GLU/LYS,,GLU/LYS	416,3990	787.3+/-414.9	18,380,1805	142	132	136		1072,1072,1072,,1072	5.4	1	1	dbSNP_116	136	816,7784	781.8+/-407.6	54,708,3538	yes	missense,missense,missense,utr-5,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_001199092.1,NM_173533.3	56,56,56,,56	72,1088,5343	GG,GA,AA		9.4884,9.4417,9.4726	benign,benign,benign,,benign	358/1036,358/1036,358/982,,358/982	179600001	1232,11774	2203	4300	6503	SO:0001583	missense	163589	exon7			TTCAGGAAAGGAC	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1072A>G	1.37:g.179600001A>G	ENSP00000356586:p.Lys358Glu	Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	359	132	0.367688	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	165	0.07554945054945054	39	0.07926829268292683	20	0.055248618784530384	49	0.08566433566433566	57	0.07519788918205805	G	5.912	0.352299	0.11182	0.094417	0.094884	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.39997	1.05;1.05;1.05	5.4	5.4	0.78164	.	0.634403	0.15010	N	0.285631	T	0.00412	0.0013	N	0.00197	-1.87	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10613	-1.0622	9	0.02654	T	1	-12.8039	12.5316	0.56117	0.0815:0.0:0.9185:0.0	rs6704505;rs17369799;rs52834975;rs57881501;rs6704505	358;358	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	E	358	ENSP00000356586:K358E;ENSP00000294848:K358E;ENSP00000406052:K358E	ENSP00000294848:K358E	K	+	1	0	TDRD5	177866624	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	3.889000	0.56212	1.423000	0.47198	-0.128000	0.14901	AAA	A|0.911;G|0.089	0.089	strong		0.393	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		G	179600001	A	G	179600001	3	3	23	1	0	0	0	0	1	0	0	0	15730	247	9	2	1094	2	TDRD5	1	179600001	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	279423	179600001	69650620	396	16852										
CEP350	9857	hgsc.bcm.edu	37	chr1	179972337	179972337	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcagagaccaagattcgAacacctgatgggaaagtgtg	11	9	1	3	rs17371159	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:179972337A>C	ENST00000367607.3	+	7	1465	c.1047A>C	c.(1045-1047)cgA>cgC	p.R349R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	349					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCAAGATTCGAACACCTGATG	0.368													A|||	258	0.0515176	0.0045	0.062	5008	,	,		19022	0.0139		0.1123	False		,,,				2504	0.0838				p.R349R		Atlas-SNP	.											.	CEP350	418	.	0			c.A1047C						PASS	.	A		114,4292	85.3+/-124.0	1,112,2090	85	79	81		1047	1.4	1	1	dbSNP_123	81	1035,7565	218.1+/-256.6	80,875,3345	no	coding-synonymous	CEP350	NM_014810.4		81,987,5435	CC,CA,AA		12.0349,2.5874,8.8344		349/3118	179972337	1149,11857	2203	4300	6503	SO:0001819	synonymous_variant	9857	exon7			GATTCGAACACCT	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1047A>C	1.37:g.179972337A>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	171	108	0.631579	NM_014810	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1																																																																																			A|0.930;C|0.070	0.070	strong		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		C	179972337	A	C	179972337	2	2	23	1	0	0	0	0	0	0	0	1	3254	233	9	5		5	CEP350	1	179972337	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	372336	179972337	69278284	397	16853										
CEP350	9857	hgsc.bcm.edu	37	chr1	180000542	180000542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatcaaggaaagaaatctgGgaccagcagcaaactttctg	9	10	3	1	rs12125245	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:180000542G>T	ENST00000367607.3	+	15	4056	c.3638G>T	c.(3637-3639)gGg>gTg	p.G1213V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1213	Ser-rich.		G -> V (in dbSNP:rs12125245).		microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAAATCTGGGACCAGCAGC	0.393													G|||	258	0.0515176	0.0045	0.062	5008	,	,		11324	0.0139		0.1123	False		,,,				2504	0.0838				p.G1213V		Atlas-SNP	.											.	CEP350	418	.	0			c.G3638T						PASS	.	G	VAL/GLY	114,4292	83.9+/-122.4	1,112,2090	49	50	50		3638	5.1	1	1	dbSNP_120	50	1038,7562	217.6+/-256.2	81,876,3343	yes	missense	CEP350	NM_014810.4	109	82,988,5433	TT,TG,GG		12.0698,2.5874,8.8575	benign	1213/3118	180000542	1152,11854	2203	4300	6503	SO:0001583	missense	9857	exon15			AATCTGGGACCAG	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3638G>T	1.37:g.180000542G>T	ENSP00000356579:p.Gly1213Val	Somatic	388	1	0.00257732		WXS	Illumina HiSeq	Phase_I	456	297	0.651316	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	120	0.054945054945054944	4	0.008130081300813009	23	0.06353591160220995	2	0.0034965034965034965	91	0.12005277044854881	G	8.716	0.913218	0.17907	0.025874	0.120698	ENSG00000135837	ENST00000367607	T	0.55930	0.49	6.02	5.05	0.67936	.	0.153716	0.29638	N	0.011596	T	0.00468	0.0015	N	0.11560	0.145	0.22541	P	0.999003279	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.002	T	0.04229	-1.0967	8	.	.	.	.	13.8485	0.63481	0.0:0.0:0.7807:0.2193	rs12125245;rs52816080;rs58708432;rs12125245	1213;1213	E7EU22;Q5VT06	.;CE350_HUMAN	V	1213	ENSP00000356579:G1213V	.	G	+	2	0	CEP350	178267165	0.993000	0.37304	1.000000	0.80357	0.841000	0.47740	2.281000	0.43452	2.850000	0.98022	0.650000	0.86243	GGG	G|0.929;T|0.071	0.071	strong		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180000542	G	T	180000542	3	4	23	1	0	0	0	0	1	0	0	0	3254	1232	43	4	3692	4	CEP350	1	180000542	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28205	180000542	69250079	398	16854										
CEP350	9857	hgsc.bcm.edu	37	chr1	180080290	180080290	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcaggggagaatgctactTgtgtgacatcttgcaaataa	11	6	1	2	rs12126496	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:180080290T>A	ENST00000367607.3	+	38	9766	c.9348T>A	c.(9346-9348)ctT>ctA	p.L3116L	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3116					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAATGCTACTTGTGTGACATC	0.463													T|||	211	0.0421326	0.0045	0.0476	5008	,	,		22888	0.0139		0.0984	False		,,,				2504	0.0603				p.L3116L		Atlas-SNP	.											.	CEP350	418	.	0			c.T9348A						PASS	.	T		104,4302	80.9+/-119.3	1,102,2100	92	77	83		9348	3.5	1	1	dbSNP_120	83	945,7655	207.7+/-249.4	70,805,3425	no	coding-synonymous	CEP350	NM_014810.4		71,907,5525	AA,AT,TT		10.9884,2.3604,8.0655		3116/3118	180080290	1049,11957	2203	4300	6503	SO:0001819	synonymous_variant	9857	exon38			GCTACTTGTGTGA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9348T>A	1.37:g.180080290T>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	191	111	0.581152	NM_014810	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1	107	0.04899267399267399	4	0.008130081300813009	19	0.052486187845303865	2	0.0034965034965034965	82	0.10817941952506596	T	6.854	0.526772	0.13066	0.023604	0.109884	ENSG00000135837	ENST00000429851	.	.	.	5.9	3.47	0.39725	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00759	-1.1578	4	.	.	.	.	6.3592	0.21419	0.14:0.0739:0.0:0.7861	rs12126496;rs12126496	.	.	.	S	1291	.	.	C	+	1	0	CEP350	178346913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.274000	0.33132	1.066000	0.40716	0.528000	0.53228	TGT	T|0.938;A|0.062	0.062	strong		0.463	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		A	180080290	T	A	180080290	2	1	23	1	0	0	0	0	0	0	0	1	3254	1799	63	5		5	CEP350	1	180080290	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	79748	180080290	69170331	399	16855										
QSOX1	5768	hgsc.bcm.edu	37	chr1	180144485	180144485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctttaccaagaacggctcGggagcagtatttccaggtgg	13	10	0	1	rs10913939	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:180144485G>A	ENST00000367602.3	+	3	470	c.396G>A	c.(394-396)tcG>tcA	p.S132S	QSOX1_ENST00000367600.5_Silent_p.S132S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	132	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAACGGCTCGGGAGCAGTAT	0.542													G|||	493	0.0984425	0.0946	0.1066	5008	,	,		15983	0.003		0.1421	False		,,,				2504	0.1513				p.S132S		Atlas-SNP	.											.	QSOX1	79	.	0			c.G396A						PASS	.	G	,	539,3867	245.3+/-254.3	38,463,1702	137	119	125		396,396	-7.7	0	1	dbSNP_120	125	1367,7233	266.3+/-286.6	118,1131,3051	no	coding-synonymous,coding-synonymous	QSOX1	NM_001004128.2,NM_002826.4	,	156,1594,4753	AA,AG,GG		15.8953,12.2333,14.6548	,	132/605,132/748	180144485	1906,11100	2203	4300	6503	SO:0001819	synonymous_variant	5768	exon3			CGGCTCGGGAGCA	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.396G>A	1.37:g.180144485G>A		Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	355	221	0.622535	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																			G|0.866;A|0.134	0.134	strong		0.542	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		A	180144485	G	A	180144485	2	1	23	1	0	0	0	0	0	0	0	1	12883	1103	39	1		1	QSOX1	1	180144485	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	64195	180144485	69106136	400	16856										
MR1	3140	hgsc.bcm.edu	37	chr1	181018236	181018236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcgtttcggatcccatccAtggggtccctgaatttattt	11	10	0	1	rs2236410	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:181018236A>G	ENST00000367580.5	+	2	121	c.116A>G	c.(115-117)cAt>cGt	p.H39R	MR1_ENST00000434571.2_Missense_Mutation_p.H39R|MR1_ENST00000282990.6_Missense_Mutation_p.H39R|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.H39R	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	39	Alpha-1.|Ligand-binding.		H -> R (in dbSNP:rs2236410). {ECO:0000269|Ref.10}.		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.H39R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GATCCCATCCATGGGGTCCCT	0.542													A|||	966	0.192891	0.1263	0.2161	5008	,	,		17473	0.3502		0.1372	False		,,,				2504	0.1616				p.H39R	Colon(174;1412 1962 45296 46549 47110)	Atlas-SNP	.											MR1,NS,carcinoma,0,1	MR1	46	1	1	Substitution - Missense(1)	stomach(1)	c.A116G						PASS	.	A	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	593,3813	258.3+/-262.4	44,505,1654	50	51	50		116,116,116,116	-6.8	0	1	dbSNP_98	50	1339,7261	262.1+/-284.2	97,1145,3058	no	missense,missense,missense,missense	MR1	NM_001194999.1,NM_001195000.1,NM_001195035.1,NM_001531.2	29,29,29,29	141,1650,4712	GG,GA,AA		15.5698,13.4589,14.8547	benign,benign,benign,benign	39/297,39/250,39/215,39/342	181018236	1932,11074	2203	4300	6503	SO:0001583	missense	3140	exon3			CCATCCATGGGGT	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.116A>G	1.37:g.181018236A>G	ENSP00000356552:p.His39Arg	Somatic	294	1	0.00340136		WXS	Illumina HiSeq	Phase_I	362	140	0.38674	NM_001195035	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	450	0.20604395604395603	68	0.13821138211382114	73	0.20165745856353592	207	0.3618881118881119	102	0.1345646437994723	A	7.426	0.637720	0.14386	0.134589	0.155698	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.88741	9.51;9.51;9.51;-2.42	4.78	-6.85	0.01681	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.135970	0.06552	N	0.745148	T	0.00012	0.0000	N	0.02120	-0.675	0.22601	P	0.998948	B;P;P;P;B	0.37276	0.158;0.589;0.589;0.473;0.0	B;B;B;B;B	0.38106	0.067;0.083;0.173;0.265;0.001	T	0.04153	-1.0973	9	0.02654	T	1	.	3.7899	0.08716	0.2244:0.5:0.1585:0.117	rs2236410;rs2236410	39;39;39;39;39	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	R	39	ENSP00000388504:H39R;ENSP00000356552:H39R;ENSP00000282990:H39R;ENSP00000356551:H39R	ENSP00000282990:H39R	H	+	2	0	MR1	179284859	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	0.431000	0.21444	-1.392000	0.02082	-0.425000	0.05940	CAT	A|0.833;G|0.167	0.167	strong		0.542	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		G	181018236	A	G	181018236	3	3	23	1	0	0	0	0	1	0	0	0	9752	217	8	2	122	2	MR1	1	181018236	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	873751	181018236	68232385	401	16857										
CACNA1E	777	hgsc.bcm.edu	37	chr1	181725110	181725110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaggcaactatgtagatcaTgagaaaaacaagatggaggt	12	4	1	4	rs4652678	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:181725110T>C	ENST00000367573.2	+	29	4008	c.4008T>C	c.(4006-4008)caT>caC	p.H1336H	CACNA1E_ENST00000360108.3_Silent_p.H1317H|CACNA1E_ENST00000358338.5_Silent_p.H1268H|CACNA1E_ENST00000367570.1_Silent_p.H1336H|CACNA1E_ENST00000357570.5_Silent_p.H1287H|CACNA1E_ENST00000367567.4_Silent_p.H943H|CACNA1E_ENST00000526775.1_Silent_p.H1317H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1336					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						ATGTAGATCATGAGAAAAACA	0.483													T|||	1594	0.318291	0.4856	0.3256	5008	,	,		18946	0.0754		0.2863	False		,,,				2504	0.3701				p.H1336H		Atlas-SNP	.											.	CACNA1E	778	.	0			c.T4008C						PASS	.	T	,,	1605,2223		339,927,648	79	80	80		4008,4008,3951	0.3	1	1	dbSNP_111	80	2240,6028		299,1642,2193	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	638,2569,2841	CC,CT,TT		27.0924,41.9279,31.7874	,,	1336/2271,1336/2314,1317/2252	181725110	3845,8251	1914	4134	6048	SO:0001819	synonymous_variant	777	exon29			AGATCATGAGAAA	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.4008T>C	1.37:g.181725110T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	123	74	0.601626	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			T|0.710;C|0.290	0.290	strong		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181725110	T	C	181725110	2	2	23	1	0	0	0	0	0	0	0	1	2542	1461	51	2		2	CACNA1E	1	181725110	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	706874	181725110	67525511	402	16858										
TEDDM1	127670	hgsc.bcm.edu	37	chr1	182369078	182369078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccatgggtagccagagacGggtctgtatagaataaagcc	13	8	1	2	rs6698722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:182369078G>A	ENST00000367565.1	-	1	673	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	181						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGCCAGAGACGGGTCTGTATA	0.507													A|||	4275	0.853634	0.9569	0.8156	5008	,	,		21560	0.8373		0.8171	False		,,,				2504	0.7955				p.P181P		Atlas-SNP	.											.	TEDDM1	32	.	0			c.C543T						PASS	.	A		4082,324	173.7+/-203.5	1896,290,17	76	75	75		543	-8.7	0	1	dbSNP_116	75	6819,1781	322.6+/-315.6	2694,1431,175	no	coding-synonymous	TEDDM1	NM_172000.3		4590,1721,192	AA,AG,GG		20.7093,7.3536,16.1848		181/274	182369078	10901,2105	2203	4300	6503	SO:0001819	synonymous_variant	127670	exon1			AGAGACGGGTCTG	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.543C>T	1.37:g.182369078G>A		Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	357	227	0.635854	NM_172000	Q8IVJ0	Silent	SNP	ENST00000367565.1	37	CCDS30953.1																																																																																			G|0.154;A|0.846	0.846	strong		0.507	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		A	182369078	G	A	182369078	2	1	23	1	0	0	0	0	0	0	0	1	15746	1103	39	1		1	TEDDM1	1	182369078	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	643968	182369078	66881543	403	16859										
TEDDM1	127670	hgsc.bcm.edu	37	chr1	182369233	182369233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccaagatgagcagagaatAaacgtgcagctccacccctt	8	13	0	3	rs6674281	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:182369233A>G	ENST00000367565.1	-	1	518	c.388T>C	c.(388-390)Tat>Cat	p.Y130H		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	130			Y -> H (in dbSNP:rs6674281).			integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGCAGAGAATAAACGTGCAGC	0.512													G|||	3396	0.678115	0.761	0.6124	5008	,	,		22039	0.8294		0.5417	False		,,,				2504	0.5971				p.Y130H		Atlas-SNP	.											.	TEDDM1	32	.	0			c.T388C						PASS	.	G	HIS/TYR	3281,1125	402.8+/-332.5	1230,821,152	147	146	147		388	5.1	0	1	dbSNP_116	147	4445,4155	566.7+/-388.7	1151,2143,1006	yes	missense	TEDDM1	NM_172000.3	83	2381,2964,1158	GG,GA,AA		48.314,25.5334,40.5966	benign	130/274	182369233	7726,5280	2203	4300	6503	SO:0001583	missense	127670	exon1			GAGAATAAACGTG	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.388T>C	1.37:g.182369233A>G	ENSP00000356536:p.Tyr130His	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	190	115	0.605263	NM_172000	Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	CCDS30953.1	1442	0.6602564102564102	362	0.7357723577235772	222	0.6132596685082873	461	0.8059440559440559	397	0.5237467018469657	G	0.012	-1.684426	0.00745	0.744666	0.51686	ENSG00000203730	ENST00000367565	T	0.31769	1.48	5.05	5.05	0.67936	.	0.000000	0.64402	N	0.000002	T	0.00012	0.0000	N	0.00017	-2.845	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	9	0.02654	T	1	-45.4785	11.5331	0.50622	0.0864:0.0:0.9136:0.0	rs6674281;rs17463348;rs58719880;rs6674281	130	Q5T9Z0	TEDM1_HUMAN	H	130	ENSP00000356536:Y130H	ENSP00000356536:Y130H	Y	-	1	0	TEDDM1	180635856	0.922000	0.31269	0.020000	0.16555	0.001000	0.01503	3.052000	0.49893	1.368000	0.46115	-0.119000	0.15052	TAT	A|0.364;G|0.636	0.636	strong		0.512	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		G	182369233	A	G	182369233	3	3	23	1	0	0	0	0	1	0	0	0	15746	362	13	2	437	2	TEDDM1	1	182369233	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	155	182369233	66881388	404	16860										
RNASEL	6041	hgsc.bcm.edu	37	chr1	182554557	182554557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatagatgacaggacatttCgggcaaattcatcttcctca	7	9	3	2	rs486907	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:182554557C>T	ENST00000367559.3	-	2	1638	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	RNASEL_ENST00000444138.1_Missense_Mutation_p.R462Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.R462Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (risk factor for prostate cancer; reduced enzymatic activity; dbSNP:rs486907). {ECO:0000269|PubMed:11799394, ECO:0000269|PubMed:11941539, ECO:0000269|PubMed:17344846}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGGACATTTCGGGCAAATTC	0.453													C|||	1155	0.230631	0.0666	0.2233	5008	,	,		20473	0.2421		0.3708	False		,,,				2504	0.3016				p.R462Q		Atlas-SNP	.											.	RNASEL	83	.	0			c.G1385A	GRCh37	CM020962	RNASEL	M	rs486907	PASS	.	C	GLN/ARG	587,3819	257.7+/-262.0	42,503,1658	129	127	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1385	0.1	0	1	dbSNP_83	128	3065,5535	471.5+/-368.1	516,2033,1751	yes	missense	RNASEL	NM_021133.3	43	558,2536,3409	TT,TC,CC		35.6395,13.3227,28.0793	probably-damaging	462/742	182554557	3652,9354	2203	4300	6503	SO:0001583	missense	6041	exon2			ACATTTCGGGCAA	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1385G>A	1.37:g.182554557C>T	ENSP00000356530:p.Arg462Gln	Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	432	260	0.601852	NM_021133	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	533	0.24404761904761904	26	0.052845528455284556	93	0.2569060773480663	135	0.23601398601398602	279	0.36807387862796836	C	22.0	4.225120	0.79576	0.133227	0.356395	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000543858;ENST00000539397	T;T;T	0.20463	2.07;2.07;2.07	5.95	0.0561	0.14318	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.497265	0.17966	N	0.156039	T	0.00012	0.0000	M	0.76574	2.34	0.80722	P	0.0	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.59825	0.864;0.864;0.864	T	0.36138	-0.9760	9	0.18276	T	0.48	-4.1493	0.4865	0.00557	0.1814:0.2702:0.1788:0.3696	rs486907;rs3738580;rs52825450;rs60634396;rs486907	462;462;462	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Q	462;462;106;462	ENSP00000356530:R462Q;ENSP00000411147:R462Q;ENSP00000440844:R462Q	ENSP00000356530:R462Q	R	-	2	0	RNASEL	180821180	0.001000	0.12720	0.001000	0.08648	0.188000	0.23474	0.217000	0.17603	0.102000	0.17638	0.650000	0.86243	CGA	C|0.737;T|0.263	0.263	strong		0.453	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		T	182554557	C	T	182554557	3	4	23	1	0	0	0	0	1	0	0	0	13416	884	31	1	864	1	RNASEL	1	182554557	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	185324	182554557	66696064	405	16861										
NPL	80896	hgsc.bcm.edu	37	chr1	182763576	182763576	+	Splice_Site	DEL	T	T	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccaatgactgagaatgggTaactatcatttggggccttg							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:182763576delT	ENST00000367553.1	+	2	112		c.e2+2		NPL_ENST00000367554.3_Intron|NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367550.2_Splice_Site|NPL_ENST00000367555.1_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TGAGAATGGGTAACTATCATT	0.458																																					.		Pindel	.											.	NPL	55	.	0			c.68+1T>-						PASS	.		,,,,	1,4265		0,1,2132	118	118	118		,,,,	5.3	1	1		118	1,8253		0,1,4126	no	splice-5,splice-5,splice-5,splice-5,intron	NPL	NM_030769.2,NM_001200056.1,NM_001200052.1,NM_001200051.1,NM_001200050.1	,,,,	0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016	,,,,	,,,,	182763576	2,12518	2203	4300	6503	SO:0001630	splice_region_variant	80896	exon3			.	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.68+2T>-	1.37:g.182763576delT		Somatic	140	.	.		WXS	Illumina HiSeq	Phase_I	168	61	0.363	NM_001200051	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	DEL	ENST00000367553.1	37	CCDS1350.1																																																																																			.	.	none		0.458	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	-	182763576	T	-	182763576	8	5	23	1	0	1	0	1	0	0	1	0	10585	1652	57	0	72	0	NPL	1	182763576	Splice_Site	DEL	T	TCGA-GR-7353-01A-11D-2210-10	209019	182763576	66487045	406	16862										
LAMC1	3915	hgsc.bcm.edu	37	chr1	183079729	183079729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagactgtgaaaagtgtcttCctttcttcaatgaccggccg	9	10	3	3	rs142614579	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:183079729C>T	ENST00000258341.4	+	4	1218	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	321	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAAGTGTCTTCCTTTCTTCAA	0.473																																					p.P321S		Atlas-SNP	.											.	LAMC1	176	.	0			c.C961T						PASS	.	C	SER/PRO	3,4403	6.2+/-15.9	0,3,2200	188	184	186		961	4.9	0.3	1	dbSNP_134	186	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LAMC1	NM_002293.3	74	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	probably-damaging	321/1610	183079729	7,12999	2203	4300	6503	SO:0001583	missense	3915	exon4			TGTCTTCCTTTCT	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.961C>T	1.37:g.183079729C>T	ENSP00000258341:p.Pro321Ser	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	203	122	0.600985	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382348	0.82792	6.81E-4	4.65E-4	ENSG00000135862	ENST00000258341	T	0.62498	0.02	4.87	4.87	0.63330	EGF-like, laminin (4);	0.054481	0.85682	D	0.000000	T	0.76026	0.3930	M	0.79475	2.455	0.80722	D	1	P	0.46142	0.873	P	0.54026	0.74	T	0.80443	-0.1380	10	0.87932	D	0	.	17.9961	0.89184	0.0:1.0:0.0:0.0	.	321	P11047	LAMC1_HUMAN	S	321	ENSP00000258341:P321S	ENSP00000258341:P321S	P	+	1	0	LAMC1	181346352	0.998000	0.40836	0.254000	0.24359	0.975000	0.68041	3.714000	0.54889	2.239000	0.73571	0.305000	0.20034	CCT	C|0.999;T|0.001	0.001	strong		0.473	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		T	183079729	C	T	183079729	3	4	23	1	0	0	0	0	1	0	0	0	8614	855	30	2	975	2	LAMC1	1	183079729	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	316153	183079729	66170892	407	16863										
LAMC1	3915	hgsc.bcm.edu	37	chr1	183091040	183091040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagtccatgtgtgctttgcGcctgcaatggacacagcgag	12	11	0	0	rs147401305	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:183091040G>A	ENST00000258341.4	+	12	2430	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	725	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A725S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTGCTTTGCGCCTGCAATGG	0.478																																					p.A725T		Atlas-SNP	.											LAMC1,NS,carcinoma,0,1	LAMC1	176	1	1	Substitution - Missense(1)	lung(1)	c.G2173A						scavenged	.	G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	132	117	122		2173	1.5	0.5	1	dbSNP_134	122	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LAMC1	NM_002293.3	58	0,7,6496	AA,AG,GG		0.0465,0.0681,0.0538	benign	725/1610	183091040	7,12999	2203	4300	6503	SO:0001583	missense	3915	exon12			CTTTGCGCCTGCA	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2173G>A	1.37:g.183091040G>A	ENSP00000258341:p.Ala725Thr	Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	146	88	0.60274	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581931	0.03827	6.81E-4	4.65E-4	ENSG00000135862	ENST00000258341	T	0.61627	0.09	5.17	1.54	0.23209	EGF-like, laminin (3);	0.249221	0.46442	N	0.000296	T	0.17959	0.0431	N	0.00621	-1.32	0.19945	N	0.999948	B	0.02656	0.0	B	0.04013	0.001	T	0.29027	-1.0025	10	0.07990	T	0.79	.	5.4496	0.16556	0.6007:0.0:0.2809:0.1184	.	725	P11047	LAMC1_HUMAN	T	725	ENSP00000258341:A725T	ENSP00000258341:A725T	A	+	1	0	LAMC1	181357663	0.001000	0.12720	0.533000	0.28001	0.645000	0.38454	0.530000	0.23036	0.013000	0.14918	-0.946000	0.02672	GCC	G|0.999;A|0.001	0.001	strong		0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183091040	G	A	183091040	3	1	23	1	0	0	0	0	1	0	0	0	8614	1087	38	1	2219	1	LAMC1	1	183091040	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11311	183091040	66159581	408	16864										
C1orf26	54823	hgsc.bcm.edu	37	chr1	185135745	185135745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcaagttctactagttcAtcttctataagatcagtttc	5	10	5	1	rs950327	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:185135745A>G	ENST00000367500.4	+	3	291	c.126A>G	c.(124-126)tcA>tcG	p.S42S	SWT1_ENST00000367501.3_Silent_p.S42S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	42	Poly-Ser.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTACTAGTTCATCTTCTATAA	0.294													A|||	1728	0.345048	0.4221	0.3905	5008	,	,		16373	0.1944		0.3499	False		,,,				2504	0.3589				p.S42S		Atlas-SNP	.											.	SWT1	88	.	0			c.A126G						PASS	.	A	,	1765,2641	502.4+/-365.2	352,1061,790	59	65	63		126,126	1.9	0.3	1	dbSNP_86	63	3112,5470	469.3+/-367.5	578,1956,1757	no	coding-synonymous,coding-synonymous	SWT1	NM_001105518.1,NM_017673.6	,	930,3017,2547	GG,GA,AA		36.2619,40.059,37.55	,	42/901,42/901	185135745	4877,8111	2203	4291	6494	SO:0001819	synonymous_variant	54823	exon3			TAGTTCATCTTCT	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.126A>G	1.37:g.185135745A>G		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	188	185	0.984043	NM_017673	Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	CCDS1367.1																																																																																			A|0.680;G|0.320	0.320	strong		0.294	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		G	185135745	A	G	185135745	2	3	23	1	0	0	0	0	0	0	0	1	2035	204	8	2		2	C1orf26	1	185135745	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2044705	185135745	64114876	409	16865										
CFHR5	81494	hgsc.bcm.edu	37	chr1	196967354	196967354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taatcataattctagaatacGttacagatgttcagacatct	5	7	4	3	rs35662416	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:196967354G>A	ENST00000256785.4	+	7	1176	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R380H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	356	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in dbSNP:rs35662416).		complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTAGAATACGTTACAGATGT	0.348													G|||	52	0.0103834	0.0	0.0173	5008	,	,		13940	0.0		0.0328	False		,,,				2504	0.0072				p.R356H		Atlas-SNP	.											CFHR5_ENST00000367414,NS,carcinoma,+1,2	CFHR5	150	2	0			c.G1067A	GRCh37	CM077517	CFHR5	M	rs35662416	PASS	.	G	HIS/ARG	30,4376	35.2+/-66.4	0,30,2173	38	37	37		1067	-6.6	0	1	dbSNP_126	37	242,8352	96.3+/-158.1	1,240,4056	yes	missense	CFHR5	NM_030787.3	29	1,270,6229	AA,AG,GG		2.8159,0.6809,2.0923	possibly-damaging	356/570	196967354	272,12728	2203	4297	6500	SO:0001583	missense	81494	exon7			GAATACGTTACAG	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1067G>A	1.37:g.196967354G>A	ENSP00000256785:p.Arg356His	Somatic	281	1	0.00355872		WXS	Illumina HiSeq	Phase_I	315	204	0.647619	NM_030787	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	34	0.015567765567765568	0	0.0	9	0.024861878453038673	0	0.0	25	0.032981530343007916	G	12.25	1.882395	0.33255	0.006809	0.028159	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65916	-0.18;-0.18	3.28	-6.56	0.01848	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23532	0.0569	L	0.34521	1.04	0.09310	N	1	P	0.43885	0.82	P	0.48840	0.592	T	0.28202	-1.0051	9	0.28530	T	0.3	.	1.9625	0.03389	0.5098:0.1432:0.2023:0.1447	rs35662416	356	Q9BXR6	FHR5_HUMAN	H	380;356	ENSP00000356384:R380H;ENSP00000256785:R356H	ENSP00000256785:R356H	R	+	2	0	CFHR5	195233977	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.428000	0.02439	-1.868000	0.01142	0.289000	0.19496	CGT	G|0.979;A|0.021	0.021	strong		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		A	196967354	G	A	196967354	3	1	23	1	0	0	0	0	1	0	0	0	3288	1145	40	1	1093	1	CFHR5	1	196967354	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11831609	196967354	52283267	410	16866										
DENND1B	163486	hgsc.bcm.edu	37	chr1	197480927	197480927	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcagctgccagcttcccCtgatctgagctgtgtgtgct	11	12	1	2	rs12142127	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:197480927C>T								CRB1 (33342 upstream) : DENND1B (40457 downstream)																							CCAGCTTCCCCTGATCTGAGC	0.383													C|||	1150	0.229633	0.1415	0.2622	5008	,	,		15737	0.2212		0.3062	False		,,,				2504	0.2556				p.Q582Q		Atlas-SNP	.											.	DENND1B	108	.	0			c.G1746A						PASS	.	C		729,3677	297.8+/-285.0	61,607,1535	96	95	96		1746	-0.8	1	1	dbSNP_120	96	2910,5690	450.7+/-362.5	500,1910,1890	no	coding-synonymous	DENND1B	NM_001195215.1		561,2517,3425	TT,TC,CC		33.8372,16.5456,27.9794		582/776	197480927	3639,9367	2203	4300	6503	SO:0001628	intergenic_variant	163486	exon22			CTTCCCCTGATCT																													1.37:g.197480927C>T		Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	385	219	0.568831	NM_001195215		Silent	SNP		37																																																																																				C|0.754;T|0.246	0.246	strong	0	0.383									T	197480927	C	T	197480927	1	4	23	0	1	0	0	0	0	0	0	0	4427	680	24	2		2	DENND1B	1	197480927	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	513573	197480927	51769694	411	16867										
C1orf53	388722	hgsc.bcm.edu	37	chr1	197874949	197874949	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccagctaaactatgtggaTccagctactggctatgtggt	12	9	0	0	rs2270763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:197874949T>C	ENST00000367393.3	+	2	291	c.288T>C	c.(286-288)gaT>gaC	p.D96D	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	96										endometrium(1)|lung(1)	2						ACTATGTGGATCCAGCTACTG	0.408													T|||	1801	0.359625	0.4123	0.3948	5008	,	,		18098	0.2619		0.3668	False		,,,				2504	0.3569				p.D96D		Atlas-SNP	.											.	C1orf53	18	.	0			c.T288C						PASS	.	T		1591,2363		339,913,725	160	151	154		288	-0.9	1	1	dbSNP_100	154	2921,5421		512,1897,1762	no	coding-synonymous	C1orf53	NM_001024594.2		851,2810,2487	CC,CT,TT		35.0156,40.2377,36.6949		96/146	197874949	4512,7784	1977	4171	6148	SO:0001819	synonymous_variant	388722	exon2			TGTGGATCCAGCT	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.288T>C	1.37:g.197874949T>C		Somatic	290	2	0.00689655		WXS	Illumina HiSeq	Phase_I	363	362	0.997245	NM_001024594	A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	CCDS44290.1	735	0.33653846153846156	187	0.3800813008130081	151	0.4171270718232044	139	0.243006993006993	258	0.3403693931398417	T	8.716	0.913213	0.17907	0.402377	0.350156	ENSG00000203724	ENST00000436652	.	.	.	5.73	-0.891	0.10573	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999697	.	.	.	.	.	.	T	0.43376	-0.9395	3	.	.	.	-2.0025	11.3485	0.49575	0.0:0.4741:0.0:0.5259	rs2270763;rs61130784;rs2270763	.	.	.	P	33	.	.	S	+	1	0	C1orf53	196141572	0.993000	0.37304	0.968000	0.41197	0.989000	0.77384	0.140000	0.16056	-0.399000	0.07668	-0.290000	0.09829	TCC	T|0.659;C|0.341	0.341	strong		0.408	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		C	197874949	T	C	197874949	2	2	23	1	0	0	0	0	0	0	0	1	2045	1432	50	2		2	C1orf53	1	197874949	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	394022	197874949	51375672	412	16868										
ZNF281	23528	hgsc.bcm.edu	37	chr1	200378495	200378495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacccccaggaggtcctctgCgaggggaaggccgcggctga	16	13	1	1	rs374232799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:200378495C>T	ENST00000294740.3	-	2	463	c.339G>A	c.(337-339)tcG>tcA	p.S113S	ZNF281_ENST00000367352.3_Silent_p.S77S|ZNF281_ENST00000367353.1_Silent_p.S113S	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	113					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGGTCCTCTGCGAGGGGAAGG	0.662																																					p.S113S		Atlas-SNP	.											.	ZNF281	74	.	0			c.G339A						PASS	.	C		0,4176		0,0,2088	7	6	6		339	3.2	1	1		6	2,8178		0,2,4088	no	coding-synonymous	ZNF281	NM_012482.3		0,2,6176	TT,TC,CC		0.0244,0.0,0.0162		113/896	200378495	2,12354	2088	4090	6178	SO:0001819	synonymous_variant	23528	exon2			CCTCTGCGAGGGG	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.339G>A	1.37:g.200378495C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	38	26	0.684211	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	37	CCDS1402.1																																																																																			.	.	none		0.662	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		T	200378495	C	T	200378495	2	4	23	1	0	0	0	0	0	0	0	1	17815	755	27	1		1	ZNF281	1	200378495	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2503546	200378495	48872126	413	16869										
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880869	200880869	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggtcccagccggcagcagAgagctggtcgcccaccaccc	13	17	0	1	rs45547233	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:200880869A>C	ENST00000367342.4	+	9	1703	c.1503A>C	c.(1501-1503)agA>agC	p.R501S	C1orf106_ENST00000413687.2_Missense_Mutation_p.R416S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	501										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCGGCAGCAGAGAGCTGGTCG	0.701													A|||	298	0.0595048	0.0091	0.0461	5008	,	,		13338	0.1091		0.1054	False		,,,				2504	0.0389				p.R515S		Atlas-SNP	.											C1orf106,caecum,carcinoma,0,1	C1orf106	59	1	0			c.A1545C						PASS	.	A	SER/ARG,SER/ARG	113,4291		3,107,2092	25	28	27		1248,1503	-3	0.5	1	dbSNP_127	27	990,7602		57,876,3363	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	110,110	60,983,5455	CC,CA,AA		11.5223,2.5658,8.4872	benign,benign	416/579,501/664	200880869	1103,11893	2202	4296	6498	SO:0001583	missense	55765	exon9			CAGCAGAGAGCTG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1503A>C	1.37:g.200880869A>C	ENSP00000356311:p.Arg501Ser	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	158	47	0.297468	NM_018265	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		173	0.07921245421245421	3	0.006097560975609756	18	0.049723756906077346	65	0.11363636363636363	87	0.11477572559366754	A	7.865	0.726990	0.15439	0.025658	0.115223	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.31247	1.5;1.5	3.45	-2.97	0.05530	.	1.399470	0.04811	N	0.435289	T	0.00178	0.0005	N	0.19112	0.55	0.39169	P	0.037437000000000054	P	0.37781	0.608	B	0.32289	0.143	T	0.06499	-1.0823	9	0.09084	T	0.74	-3.9784	4.1724	0.10336	0.5046:0.0:0.33:0.1654	rs45547233;rs61743890	501	Q3KP66	CA106_HUMAN	S	501;416	ENSP00000356311:R501S;ENSP00000392105:R416S	ENSP00000356311:R501S	R	+	3	2	C1orf106	199147492	0.978000	0.34361	0.487000	0.27428	0.184000	0.23303	0.652000	0.24888	-0.319000	0.08652	-0.385000	0.06624	AGA	A|0.921;C|0.079	0.079	strong		0.701	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		C	200880869	A	C	200880869	3	2	23	1	0	0	0	0	1	0	0	0	1980	301	11	5	1537	5	C1orf106	1	200880869	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	502374	200880869	48369752	414	16870										
KIF21B	23046	hgsc.bcm.edu	37	chr1	200959302	200959302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacgatggtggcctggcaGtcggtgatgccgtcattgat	15	9	1	2	rs2297911	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:200959302G>A	ENST00000422435.2	-	20	3310	c.2994C>T	c.(2992-2994)gaC>gaT	p.D998D	KIF21B_ENST00000461742.2_Silent_p.D998D|KIF21B_ENST00000360529.5_Silent_p.D998D|KIF21B_ENST00000332129.2_Silent_p.D998D	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	998					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGCCTGGCAGTCGGTGATGC	0.647													G|||	1321	0.263778	0.4531	0.2032	5008	,	,		20704	0.2976		0.1541	False		,,,				2504	0.1288				p.D998D		Atlas-SNP	.											.	KIF21B	208	.	0			c.C2994T						PASS	.	G		1864,2542	537.6+/-374.8	389,1086,728	86	82	84		2994	3	1	1	dbSNP_100	84	1535,7065	288.8+/-298.9	131,1273,2896	yes	coding-synonymous	KIF21B	NM_017596.2		520,2359,3624	AA,AG,GG		17.8488,42.3059,26.1341		998/1625	200959302	3399,9607	2203	4300	6503	SO:0001819	synonymous_variant	23046	exon20			CTGGCAGTCGGTG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2994C>T	1.37:g.200959302G>A		Somatic	712	1	0.00140449		WXS	Illumina HiSeq	Phase_I	770	196	0.254545	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																			G|0.752;A|0.248	0.248	strong		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200959302	G	A	200959302	2	1	23	1	0	0	0	0	0	0	0	1	8289	1020	36	2		2	KIF21B	1	200959302	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	78433	200959302	48291319	415	16871										
CACNA1S	779	hgsc.bcm.edu	37	chr1	201009182	201009182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagtttgcatcagctgccAaggtgcccaggccccctcga	11	14	1	1	rs12139527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201009182A>G	ENST00000362061.3	-	44	5625	c.5399T>C	c.(5398-5400)tTg>tCg	p.L1800S	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1781S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1800			L -> S (in dbSNP:rs12139527). {ECO:0000269|PubMed:15489334}.		axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCAGCTGCCAAGGTGCCCAG	0.602													A|||	1148	0.229233	0.6059	0.1023	5008	,	,		20196	0.1091		0.1054	False		,,,				2504	0.0613				p.L1800S		Atlas-SNP	.											.	CACNA1S	249	.	0			c.T5399C						PASS	.	A	SER/LEU	2385,2021		660,1065,478	74	73	73		5399	4.9	1	1	dbSNP_120	73	1124,7476		60,1004,3236	yes	missense	CACNA1S	NM_000069.2	145	720,2069,3714	GG,GA,AA		13.0698,45.8693,26.9799	probably-damaging	1800/1874	201009182	3509,9497	2203	4300	6503	SO:0001583	missense	779	exon44			GCTGCCAAGGTGC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5399T>C	1.37:g.201009182A>G	ENSP00000355192:p.Leu1800Ser	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	211	78	0.369668	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	464	0.21245421245421245	280	0.5691056910569106	37	0.10220994475138122	65	0.11363636363636363	82	0.10817941952506596	.	18.77	3.695757	0.68386	0.541307	0.130698	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.54675	0.56;0.56	4.93	4.93	0.64822	.	.	.	.	.	T	0.00012	0.0000	M	0.61703	1.905	0.29257	P	0.871619	D	0.76494	0.999	D	0.80764	0.994	T	0.51529	-0.8694	8	0.66056	D	0.02	.	8.9075	0.35532	0.8334:0.0:0.0:0.1666	rs12139527;rs12139527	1800	Q13698	CAC1S_HUMAN	S	1800;1781	ENSP00000355192:L1800S;ENSP00000356307:L1781S	ENSP00000355192:L1800S	L	-	2	0	CACNA1S	199275805	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	5.618000	0.67722	1.851000	0.53745	0.332000	0.21555	TTG	A|0.756;G|0.244	0.244	strong		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201009182	A	G	201009182	3	3	23	1	0	0	0	0	1	0	0	0	2547	131	5	2	226	2	CACNA1S	1	201009182	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	49880	201009182	48241439	416	16872										
IGFN1	91156	hgsc.bcm.edu	37	chr1	201166383	201166383	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaggacacggatctgtaccGctgcacagcagtaaatgcgt	12	11	1	0	rs4915221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201166383G>A	ENST00000295591.8	+	0	435				IGFN1_ENST00000451870.2_Missense_Mutation_p.R102H|IGFN1_ENST00000335211.4_Missense_Mutation_p.R102H			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GATCTGTACCGCTGCACAGCA	0.547													g|||	3669	0.732628	0.8101	0.5735	5008	,	,		22538	0.8562		0.5547	False		,,,				2504	0.7965				p.R102H		Atlas-SNP	.											.	IGFN1	220	.	0			c.G305A						PASS	.	A	HIS/ARG	1065,319		406,253,33	146	135	138		305	3.2	1	1	dbSNP_111	138	1812,1370		519,774,298	yes	missense	IGFN1	NM_001164586.1	29	925,1027,331	AA,AG,GG		43.0547,23.0491,36.9908		102/3709	201166383	2877,1689	692	1591	2283			91156	exon5			TGTACCGCTGCAC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000295591.8:c.-8216G>A	1.37:g.201166383G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	104	38	0.365385	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000295591.8	37		1519	0.6955128205128205	387	0.7865853658536586	212	0.585635359116022	493	0.8618881118881119	427	0.5633245382585752	g	13.61	2.290057	0.40494	0.769509	0.569453	ENSG00000163395	ENST00000335211;ENST00000451870	T;T	0.44083	0.93;0.93	5.04	3.18	0.36537	.	.	.	.	.	T	0.00012	0.0000	M	0.68952	2.095	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.10941	-1.0608	6	0.32370	T	0.25	.	7.9743	0.30145	0.1909:0.0:0.8091:0.0	rs4915221;rs17461911;rs52829174;rs56471819;rs60470802;rs4915221	.	.	.	H	102	ENSP00000334714:R102H;ENSP00000398386:R102H	ENSP00000334714:R102H	R	+	2	0	IGFN1	199433006	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	0.498000	0.22530	0.545000	0.28902	-1.004000	0.02495	CGC	G|0.289;A|0.710	0.710	strong		0.547	IGFN1-201	KNOWN	basic	protein_coding	protein_coding		NM_178275		A	201166383	G	A	201166383	1	1	23	1	0	1	0	0	0	0	0	0	7590	1087	38	1		1	IGFN1	1	201166383	De_novo_Start_OutOfFrame	SNP	G	TCGA-GR-7353-01A-11D-2210-10	157201	201166383	48084238	417	16873										
IGFN1	91156	hgsc.bcm.edu	37	chr1	201174215	201174215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatttccccggcagccatcCccccaagagtggtggtccca	9	17	0	1	rs11584104	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201174215C>A	ENST00000335211.4	+	11	1052	c.922C>A	c.(922-924)Ccc>Acc	p.P308T	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Missense_Mutation_p.P308T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	308						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGCCATCCCCCCAAGAGT	0.572													C|||	84	0.0167732	0.0023	0.0317	5008	,	,		17748	0.0		0.0427	False		,,,				2504	0.0164				p.P308T		Atlas-SNP	.											.	IGFN1	220	.	0			c.C922A						PASS	.	C	THR/PRO	13,1367		0,13,677	10	13	12		922	4.7	1	1	dbSNP_120	12	183,2993		3,177,1408	yes	missense	IGFN1	NM_001164586.1	38	3,190,2085	AA,AC,CC		5.762,0.942,4.302		308/3709	201174215	196,4360	690	1588	2278	SO:0001583	missense	91156	exon11			GCCATCCCCCCAA	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.922C>A	1.37:g.201174215C>A	ENSP00000334714:p.Pro308Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	168	101	0.60119	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	45	0.020604395604395604	3	0.006097560975609756	10	0.027624309392265192	0	0.0	32	0.04221635883905013	C	12.39	1.923564	0.33908	0.00942	0.05762	ENSG00000163395	ENST00000335211;ENST00000451870	T;T	0.76316	-1.01;-1.01	4.68	4.68	0.58851	.	.	.	.	.	T	0.46908	0.1417	M	0.75085	2.285	0.80722	D	1	.	.	.	.	.	.	T	0.73672	-0.3909	7	0.72032	D	0.01	.	14.8477	0.70272	0.0:1.0:0.0:0.0	rs11584104	.	.	.	T	308	ENSP00000334714:P308T;ENSP00000398386:P308T	ENSP00000334714:P308T	P	+	1	0	IGFN1	199440838	1.000000	0.71417	0.951000	0.38953	0.035000	0.12851	3.120000	0.50430	2.295000	0.77249	0.655000	0.94253	CCC	C|0.971;A|0.029	0.029	strong		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201174215	C	A	201174215	3	1	23	1	0	0	0	0	1	0	0	0	7590	623	22	4	960	4	IGFN1	1	201174215	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7832	201174215	48076406	418	16874										
IGFN1	91156	hgsc.bcm.edu	37	chr1	201183424	201183424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctggtttaaggatggcGtcaaggtactgcctcccctc	11	13	1	0	rs41304263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201183424G>A	ENST00000335211.4	+	13	8978	c.8848G>A	c.(8848-8850)Gtc>Atc	p.V2950I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V110I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V493I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	493						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAAGGATGGCGTCAAGGTACT	0.577													G|||	97	0.019369	0.0076	0.0389	5008	,	,		17684	0.0		0.0437	False		,,,				2504	0.0164				p.V2950I		Atlas-SNP	.											.	IGFN1	220	.	0			c.G8848A						PASS	.	G	ILE/VAL	80,4326	65.3+/-102.7	0,80,2123	66	51	56		8848	2.8	1	1	dbSNP_127	56	522,8078	142.2+/-198.4	16,490,3794	yes	missense	IGFN1	NM_001164586.1	29	16,570,5917	AA,AG,GG		6.0698,1.8157,4.6286	benign	2950/3709	201183424	602,12404	2203	4300	6503	SO:0001583	missense	91156	exon13			GATGGCGTCAAGG	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8848G>A	1.37:g.201183424G>A	ENSP00000334714:p.Val2950Ile	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	127	84	0.661417	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	57|57	0.0260989010989011|0.0260989010989011	11|11	0.022357723577235773|0.022357723577235773	14|14	0.03867403314917127|0.03867403314917127	0|0	0.0|0.0	32|32	0.04221635883905013|0.04221635883905013	G|G	12.91|12.91	2.079584|2.079584	0.36662|0.36662	0.018157|0.018157	0.060698|0.060698	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000451870;ENST00000295591	.|T;T;T	.|0.66815	.|-0.23;-0.23;-0.23	3.66|3.66	2.75|2.75	0.32379|0.32379	.|.	.|0.540943	.|0.16807	.|N	.|0.198737	T|T	0.14700|0.14700	0.0355|0.0355	M|M	0.64567|0.64567	1.98|1.98	0.20926|0.20926	N|N	0.999824|0.999824	.|B	.|0.33940	.|0.433	.|B	.|0.38954	.|0.286	T|T	0.38090|0.38090	-0.9677|-0.9677	5|10	.|0.44086	.|T	.|0.13	.|.	2.1086|2.1086	0.03697|0.03697	0.1078:0.1664:0.4439:0.2819|0.1078:0.1664:0.4439:0.2819	rs41304263;rs61739654|rs41304263;rs61739654	.|2950	.|F8WAI1	.|.	H|I	367|2950;493;110	.|ENSP00000334714:V2950I;ENSP00000398386:V493I;ENSP00000295591:V110I	.|ENSP00000295591:V110I	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199450047|199450047	0.136000|0.136000	0.22515|0.22515	0.996000|0.996000	0.52242|0.52242	0.611000|0.611000	0.37282|0.37282	0.563000|0.563000	0.23547|0.23547	0.748000|0.748000	0.32831|0.32831	0.462000|0.462000	0.41574|0.41574	CGT|GTC	G|0.960;A|0.040	0.040	strong		0.577	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201183424	G	A	201183424	3	1	23	1	0	0	0	0	1	0	0	0	7590	1145	40	1	8894	1	IGFN1	1	201183424	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9209	201183424	48067197	419	16875										
IGFN1	91156	hgsc.bcm.edu	37	chr1	201190732	201190732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtggctcccgtgccatgtGggcaccgtgccagtcaccac	12	16	1	0	rs3738269	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201190732G>A	ENST00000335211.4	+	19	10189	c.10059G>A	c.(10057-10059)gtG>gtA	p.V3353V	IGFN1_ENST00000295591.8_Silent_p.V513V|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	896						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGTGCCATGTGGGCACCGTGC	0.637													G|||	1105	0.220647	0.1135	0.2464	5008	,	,		18470	0.255		0.2694	False		,,,				2504	0.2618				p.V3353V		Atlas-SNP	.											IGFN1_ENST00000335211,NS,carcinoma,0,4	IGFN1	220	4	0			c.G10059A						PASS	.	G		663,3743	277.5+/-273.7	53,557,1593	51	42	45		10059	-2.2	0.1	1	dbSNP_107	45	2373,6227	388.2+/-342.5	339,1695,2266	no	coding-synonymous	IGFN1	NM_001164586.1		392,2252,3859	AA,AG,GG		27.593,15.0477,23.3431		3353/3709	201190732	3036,9970	2203	4300	6503	SO:0001819	synonymous_variant	91156	exon19			CCATGTGGGCACC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10059G>A	1.37:g.201190732G>A		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	293	101	0.34471	NM_001164586	F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	CCDS53455.1	528	0.24175824175824176	64	0.13008130081300814	90	0.24861878453038674	151	0.263986013986014	223	0.2941952506596306	G	5.257	0.232928	0.09969	0.150477	0.27593	ENSG00000163395	ENST00000412892	.	.	.	4.64	-2.23	0.06930	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.41142	-0.9525	3	.	.	.	.	1.0589	0.01596	0.4369:0.1254:0.2305:0.2072	rs3738269;rs3738269	.	.	.	R	771	.	.	G	+	1	0	IGFN1	199457355	0.000000	0.05858	0.070000	0.20053	0.049000	0.14656	-1.111000	0.03303	0.082000	0.17018	-0.727000	0.03589	GGG	G|0.775;A|0.225	0.225	strong		0.637	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201190732	G	A	201190732	2	1	23	1	0	0	0	0	0	0	0	1	7590	1335	47	2		2	IGFN1	1	201190732	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7308	201190732	48059889	420	16876										
PKP1	5317	hgsc.bcm.edu	37	chr1	201285712	201285712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacatcgagtgcagtgggCtgaccatccccaaggctgtg	14	11	0	1	rs7514146	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201285712C>T	ENST00000352845.3	+	4	733	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	PKP1_ENST00000367324.3_Silent_p.L245L|PKP1_ENST00000263946.3_Silent_p.L245L|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	245					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GTGCAGTGGGCTGACCATCCC	0.572													C|||	756	0.150958	0.3064	0.0821	5008	,	,		19582	0.0099		0.0994	False		,,,				2504	0.1881				p.L245L		Atlas-SNP	.											.	PKP1	127	.	0			c.C733T						PASS	.	C	,	1172,3234	408.2+/-334.5	174,824,1205	74	57	63		733,733	3.9	1	1	dbSNP_116	63	808,7792	186.2+/-233.7	33,742,3525	no	coding-synonymous,coding-synonymous	PKP1	NM_000299.3,NM_001005337.2	,	207,1566,4730	TT,TC,CC		9.3953,26.6001,15.2237	,	245/748,245/727	201285712	1980,11026	2203	4300	6503	SO:0001819	synonymous_variant	5317	exon4			AGTGGGCTGACCA	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.733C>T	1.37:g.201285712C>T		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	329	110	0.334347	NM_001005337	O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																			C|0.863;T|0.137	0.137	strong		0.572	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		T	201285712	C	T	201285712	2	4	23	1	0	0	0	0	0	0	0	1	11984	796	28	2		2	PKP1	1	201285712	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	94980	201285712	47964909	421	16877										
LAD1	3898	hgsc.bcm.edu	37	chr1	201355522	201355522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggtctgaagccccctgctTtgccaaagagggcaggttct	13	11	2	2	rs4128458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201355522T>C	ENST00000391967.2	-	3	1268	c.967A>G	c.(967-969)Aag>Gag	p.K323E	LAD1_ENST00000367313.3_Missense_Mutation_p.K337E|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	323			K -> E (in dbSNP:rs4128458).			basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCCCCCTGCTTTGCCAAAGAG	0.677													C|||	2770	0.553115	0.8775	0.3847	5008	,	,		15336	0.5188		0.4612	False		,,,				2504	0.364				p.K323E		Atlas-SNP	.											.	LAD1	42	.	0			c.A967G						PASS	.	C	GLU/LYS	3531,871		1427,677,97	29	28	28		967	1.6	0	1	dbSNP_108	28	4209,4391		1011,2187,1102	yes	missense	LAD1	NM_005558.3	56	2438,2864,1199	CC,CT,TT		48.9419,19.7865,40.4707	benign	323/518	201355522	7740,5262	2201	4300	6501	SO:0001583	missense	3898	exon3			CCTGCTTTGCCAA	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.967A>G	1.37:g.201355522T>C	ENSP00000375829:p.Lys323Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	155	51	0.329032	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	1219	0.5581501831501832	437	0.8882113821138211	153	0.42265193370165743	282	0.493006993006993	347	0.4577836411609499	C	1.003	-0.690442	0.03303	0.802135	0.489419	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.10477	2.88;2.87	4.6	1.65	0.23941	.	1.051530	0.07467	N	0.901672	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24657	-1.0154	9	0.02654	T	1	-17.1114	6.8142	0.23820	0.0:0.5957:0.0:0.4043	rs4128458;rs4342880;rs59727181;rs4128458	337;323	E9PDI4;O00515	.;LAD1_HUMAN	E	323;337	ENSP00000375829:K323E;ENSP00000356282:K337E	ENSP00000356282:K337E	K	-	1	0	LAD1	199622145	0.267000	0.24122	0.000000	0.03702	0.095000	0.18619	1.124000	0.31320	0.206000	0.20587	-0.166000	0.13349	AAG	T|0.405;C|0.595	0.595	strong		0.677	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		C	201355522	T	C	201355522	3	2	23	1	0	0	0	0	1	0	0	0	8599	1850	64	2	618	2	LAD1	1	201355522	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	69810	201355522	47895099	422	16878										
LAD1	3898	hgsc.bcm.edu	37	chr1	201355943	201355943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcttctttggcatggaggaCttctccaagactggggactt	12	9	3	1	rs2799677	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201355943C>T	ENST00000391967.2	-	3	847	c.546G>A	c.(544-546)aaG>aaA	p.K182K	LAD1_ENST00000367313.3_Silent_p.K196K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	182						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCATGGAGGACTTCTCCAAGA	0.562													T|||	2592	0.517572	0.7474	0.3775	5008	,	,		14011	0.5179		0.4622	False		,,,				2504	0.363				p.K182K		Atlas-SNP	.											.	LAD1	42	.	0			c.G546A						PASS	.	T		3042,1364	446.3+/-348.0	1054,934,215	72	80	77		546	-1.2	0	1	dbSNP_100	77	4199,4401	573.6+/-389.9	1000,2199,1101	no	coding-synonymous	LAD1	NM_005558.3		2054,3133,1316	TT,TC,CC		48.8256,30.9578,44.3257		182/518	201355943	7241,5765	2203	4300	6503	SO:0001819	synonymous_variant	3898	exon3			GGAGGACTTCTCC	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.546G>A	1.37:g.201355943C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	237	70	0.295359	NM_005558	O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	CCDS1410.1																																																																																			C|0.459;T|0.541	0.541	strong		0.562	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		T	201355943	C	T	201355943	2	4	23	1	0	0	0	0	0	0	0	1	8599	564	20	2		2	LAD1	1	201355943	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	421	201355943	47894678	423	16879										
IPO9	55705	hgsc.bcm.edu	37	chr1	201798367	201798367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggcggcagctggtgcggcCtccgggctgccgggtccagt	19	14	0	0	rs537589191		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201798367C>T	ENST00000361565.4	+	1	99	c.30C>T	c.(28-30)gcC>gcT	p.A10A	IPO9_ENST00000464348.1_3'UTR|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000421159.1_RNA|IPO9-AS1_ENST00000413035.1_RNA	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	10					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGGTGCGGCCTCCGGGCTGC	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		9698	0.0		0.0	False		,,,				2504	0.001				p.A10A		Atlas-SNP	.											.	IPO9	98	.	0			c.C30T						PASS	.						10	12	12					1																	201798367		2164	4234	6398	SO:0001819	synonymous_variant	55705	exon1			TGCGGCCTCCGGG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.30C>T	1.37:g.201798367C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	60	19	0.316667	NM_018085	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	CCDS1415.1																																																																																			.	.	none		0.711	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		T	201798367	C	T	201798367	2	4	23	1	0	0	0	0	0	0	0	1	7799	668	24	2		2	IPO9	1	201798367	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	442424	201798367	47452254	424	16880										
RNPEP	6051	hgsc.bcm.edu	37	chr1	201973565	201973565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgcgatggggccaaatcGtccttaagaacgaccaccag	12	12	0	1	rs3820439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:201973565G>A	ENST00000295640.4	+	10	1778	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.V540I|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	579			V -> I (in dbSNP:rs3820439).		leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGGCCAAATCGTCCTTAAGAA	0.517													G|||	1658	0.33107	0.2224	0.2435	5008	,	,		19561	0.3968		0.2942	False		,,,				2504	0.5102				p.V579I	GBM(19;39 479 7473 13131 19462)	Atlas-SNP	.											.	RNPEP	39	.	0			c.G1735A						PASS	.	G	ILE/VAL	1130,3276	404.6+/-333.2	125,880,1198	112	119	117		1735	2.5	0.2	1	dbSNP_107	117	2440,6160	403.3+/-347.8	354,1732,2214	yes	missense	RNPEP	NM_020216.3	29	479,2612,3412	AA,AG,GG		28.3721,25.6468,27.4489	benign	579/651	201973565	3570,9436	2203	4300	6503	SO:0001583	missense	6051	exon10			CAAATCGTCCTTA	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1735G>A	1.37:g.201973565G>A	ENSP00000295640:p.Val579Ile	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	83	22	0.26506	NM_020216	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	673	0.30815018315018317	111	0.22560975609756098	105	0.2900552486187845	225	0.39335664335664333	232	0.30606860158311344	G	8.411	0.844100	0.16963	0.256468	0.283721	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.43688	0.94;0.94	5.58	2.54	0.30619	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.292841	0.31495	N	0.007542	T	0.00012	0.0000	L	0.46741	1.465	0.58432	P	1.999999999946489E-6	B;B	0.16603	0.018;0.015	B;B	0.19946	0.02;0.027	T	0.40421	-0.9564	9	0.35671	T	0.21	-19.6368	6.1407	0.20259	0.2522:0.1335:0.6143:0.0	rs3820439;rs58505075;rs3820439	587;579	Q7RU04;Q9H4A4	.;AMPB_HUMAN	I	579;540	ENSP00000295640:V579I;ENSP00000356255:V540I	ENSP00000295640:V579I	V	+	1	0	RNPEP	200240188	0.891000	0.30450	0.193000	0.23327	0.508000	0.34012	1.254000	0.32897	0.635000	0.30488	0.655000	0.94253	GTC	G|0.707;A|0.293	0.293	strong		0.517	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		A	201973565	G	A	201973565	3	1	23	1	0	0	0	0	1	0	0	0	13509	1145	40	1	1773	1	RNPEP	1	201973565	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	175198	201973565	47277056	425	16881										
LGR6	59352	hgsc.bcm.edu	37	chr1	202276494	202276494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatccggtccatccacccCgaggccttctccaccctgca	7	21	1	0	rs896551	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:202276494C>T	ENST00000367278.3	+	14	1334	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	LGR6_ENST00000439764.2_Silent_p.P276P|LGR6_ENST00000255432.7_Silent_p.P363P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	415					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCATCCACCCCGAGGCCTTCT	0.602													C|||	2674	0.533946	0.2738	0.6427	5008	,	,		20510	0.7173		0.5447	False		,,,				2504	0.6084				p.P415P		Atlas-SNP	.											.	LGR6	102	.	0			c.C1245T						PASS	.	C	,,	1385,3021	457.1+/-351.5	216,953,1034	181	138	153		1245,828,1089	-10.3	0.6	1	dbSNP_86	153	4312,4288	578.0+/-390.6	1065,2182,1053	no	coding-synonymous,coding-synonymous,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	1281,3135,2087	TT,TC,CC		49.8605,31.4344,43.8029	,,	415/968,276/829,363/916	202276494	5697,7309	2203	4300	6503	SO:0001819	synonymous_variant	59352	exon14			CCACCCCGAGGCC	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1245C>T	1.37:g.202276494C>T		Somatic	246	2	0.00813008		WXS	Illumina HiSeq	Phase_I	302	301	0.996689	NM_001017403	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1																																																																																			C|0.532;T|0.468	0.468	strong		0.602	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		T	202276494	C	T	202276494	2	4	23	1	0	0	0	0	0	0	0	1	8758	639	23	1		1	LGR6	1	202276494	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	302929	202276494	46974127	426	16882										
LGR6	59352	hgsc.bcm.edu	37	chr1	202287813	202287813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgtggccttcctcagcttTgcctccatgctgggcctctt	9	17	2	0	rs788793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:202287813T>C	ENST00000367278.3	+	18	2471	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F	LGR6_ENST00000439764.2_Silent_p.F655F|LGR6_ENST00000255432.7_Silent_p.F742F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	794					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCTCAGCTTTGCCTCCATGC	0.652													C|||	3057	0.610423	0.3389	0.7233	5008	,	,		16498	0.7679		0.6392	False		,,,				2504	0.7055				p.F794F		Atlas-SNP	.											.	LGR6	102	.	0			c.T2382C						PASS	.	C	,,	1644,2762	659.1+/-400.5	301,1042,860	100	81	87		2382,1965,2226	-6.4	0.3	1	dbSNP_86	87	5260,3340	497.1+/-374.4	1601,2058,641	no	coding-synonymous,coding-synonymous,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	1902,3100,1501	CC,CT,TT		38.8372,37.3128,46.9168	,,	794/968,655/829,742/916	202287813	6904,6102	2203	4300	6503	SO:0001819	synonymous_variant	59352	exon18			CAGCTTTGCCTCC	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2382T>C	1.37:g.202287813T>C		Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	229	226	0.9869	NM_001017403	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1																																																																																			T|0.445;C|0.555	0.555	strong		0.652	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		C	202287813	T	C	202287813	2	2	23	1	0	0	0	0	0	0	0	1	8758	1809	63	2		2	LGR6	1	202287813	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11319	202287813	46962808	427	16883										
SYT2	127833	hgsc.bcm.edu	37	chr1	202574784	202574784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggcaaacatgtcctcctgGctctccccagcacccccact	6	19	1	0	rs1968583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:202574784G>A	ENST00000367267.1	-	2	309	c.117C>T	c.(115-117)agC>agT	p.S39S	SYT2_ENST00000367268.4_Silent_p.S39S|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	39					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGTCCTCCTGGCTCTCCCCAG	0.557													G|||	1797	0.358826	0.0794	0.4597	5008	,	,		17852	0.3621		0.5746	False		,,,				2504	0.4397				p.S39S		Atlas-SNP	.											.	SYT2	51	.	0			c.C117T						PASS	.	G	,	693,3713	291.3+/-281.4	65,563,1575	70	67	68		117,117	2.1	1	1	dbSNP_92	68	4549,4051	595.3+/-393.4	1191,2167,942	no	coding-synonymous,coding-synonymous	SYT2	NM_001136504.1,NM_177402.4	,	1256,2730,2517	AA,AG,GG		47.1047,15.7286,40.3045	,	39/420,39/420	202574784	5242,7764	2203	4300	6503	SO:0001819	synonymous_variant	127833	exon2			CTCCTGGCTCTCC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.117C>T	1.37:g.202574784G>A		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	338	331	0.97929	NM_177402	Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																			G|0.596;A|0.404	0.404	strong		0.557	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		A	202574784	G	A	202574784	2	1	23	1	0	0	0	0	0	0	0	1	15471	1194	42	2		2	SYT2	1	202574784	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	286971	202574784	46675837	428	16884										
TMEM183A	92703	hgsc.bcm.edu	37	chr1	202977809	202977809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaagcctctcaggttcctGcagaggaagctctttctggg	13	10	3	1	rs6678040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:202977809G>A	ENST00000367242.3	+	3	318	c.238G>A	c.(238-240)Gca>Aca	p.A80T	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	80			A -> T (in dbSNP:rs6678040). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TCAGGTTCCTGCAGAGGAAGC	0.478													G|||	659	0.131589	0.0696	0.2089	5008	,	,		13818	0.1756		0.1093	False		,,,				2504	0.138				p.A80T		Atlas-SNP	.											.	.	.	.	0			c.G238A						PASS	.	G	THR/ALA	378,4028	170.5+/-200.9	16,346,1841	43	48	46		238	3.7	1	1	dbSNP_116	46	929,7669	198.7+/-243.0	49,831,3419	yes	missense	TMEM183A	NM_138391.4	58	65,1177,5260	AA,AG,GG		10.8048,8.5792,10.0508	benign	80/377	202977809	1307,11697	2203	4299	6502	SO:0001583	missense	653659	exon3			GTTCCTGCAGAGG	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.238G>A	1.37:g.202977809G>A	ENSP00000356211:p.Ala80Thr	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	278	172	0.618705	NM_001079809	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	CCDS1432.1	276	0.12637362637362637	27	0.054878048780487805	77	0.212707182320442	93	0.16258741258741258	79	0.10422163588390501	G	10.56	1.384488	0.25031	0.085792	0.108048	ENSG00000163444	ENST00000367242	T	0.22336	1.96	4.84	3.7	0.42460	.	0.267365	0.36778	N	0.002409	T	0.00012	0.0000	N	0.12182	0.205	0.33821	P	0.370915	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38866	-0.9641	9	0.07030	T	0.85	-6.7407	3.9794	0.09489	0.2285:0.0:0.569:0.2025	rs6678040;rs6678040	80;80;80;80	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	T	80	ENSP00000356211:A80T	ENSP00000356211:A80T	A	+	1	0	TMEM183A	201244432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.172000	0.31908	2.223000	0.72356	0.462000	0.41574	GCA	G|0.897;A|0.103	0.103	strong		0.478	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		A	202977809	G	A	202977809	3	1	23	1	0	0	0	0	1	0	0	0	16099	1319	46	2	248	2	TMEM183A	1	202977809	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	403025	202977809	46272812	429	16885										
OPTC	26254	hgsc.bcm.edu	37	chr1	203472112	203472112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcccggggcctttgccccTgagcctgcgctctgtacacc	10	17	1	1	rs79523790	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:203472112T>C	ENST00000367222.2	+	6	919	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	268					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.L268P(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTTTGCCCCTGAGCCTGCGC	0.552													T|||	620	0.123802	0.1672	0.0692	5008	,	,		19180	0.1935		0.0646	False		,,,				2504	0.093				p.L268P		Atlas-SNP	.											OPTC,NS,carcinoma,0,1	OPTC	50	1	1	Substitution - Missense(1)	stomach(1)	c.T803C						PASS	.	T	PRO/LEU	578,3828	235.8+/-248.2	47,484,1672	55	59	57		803	0.4	0.9	1	dbSNP_131	57	367,8233	115.3+/-175.2	9,349,3942	yes	missense	OPTC	NM_014359.3	98	56,833,5614	CC,CT,TT		4.2674,13.1185,7.2659	benign	268/333	203472112	945,12061	2203	4300	6503	SO:0001583	missense	26254	exon6			TGCCCCTGAGCCT	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.803T>C	1.37:g.203472112T>C	ENSP00000356191:p.Leu268Pro	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	193	115	0.595855	NM_014359	Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	250	0.11446886446886446	72	0.14634146341463414	20	0.055248618784530384	107	0.18706293706293706	51	0.06728232189973615	T	8.543	0.873631	0.17322	0.131185	0.042674	ENSG00000188770	ENST00000367222	T	0.56444	0.46	4.13	0.419	0.16438	.	1.051150	0.07520	N	0.910411	T	0.00039	0.0001	N	0.01809	-0.71	0.22819	P	0.99869356	B	0.09022	0.002	B	0.08055	0.003	T	0.13045	-1.0524	9	0.31617	T	0.26	-4.7971	3.2075	0.06671	0.184:0.3359:0.0:0.48	.	268	Q9UBM4	OPT_HUMAN	P	268	ENSP00000356191:L268P	ENSP00000356191:L268P	L	+	2	0	OPTC	201738735	0.093000	0.21703	0.938000	0.37757	0.602000	0.36980	1.284000	0.33249	0.208000	0.20626	0.421000	0.28195	CTG	T|0.915;C|0.085	0.085	strong		0.552	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		C	203472112	T	C	203472112	3	2	23	1	0	0	0	0	1	0	0	0	10888	1580	55	3	821	3	OPTC	1	203472112	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	494303	203472112	45778509	430	16886										
ZC3H11A	9877	hgsc.bcm.edu	37	chr1	203787702	203787702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctatttgtttacagggtgAcagctgcccattccgtcact	8	12	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:203787702A>G	ENST00000545588.1	+	3	3886	c.59A>G	c.(58-60)gAc>gGc	p.D20G	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.D20G|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.D20G|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.D20G|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.D20G	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	20					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTACAGGGTGACAGCTGCCCA	0.423																																					p.D20G		Atlas-SNP	.											ZC3H11A,NS,carcinoma,+1,1	ZC3H11A	71	1	0			c.A59G						scavenged	.						94	83	87					1																	203787702		2203	4300	6503	SO:0001583	missense	9877	exon6			AGGGTGACAGCTG		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.59A>G	1.37:g.203787702A>G	ENSP00000438527:p.Asp20Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	106	3	0.0283019	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612933	0.87258	.	.	ENSG00000058673	ENST00000432282;ENST00000453771;ENST00000367214;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T;T	0.54279	0.83;0.58;0.58;0.58;0.58;0.58	5.42	5.42	0.78866	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	L	0.56199	1.76	0.58432	D	0.99999	D	0.76494	0.999	D	0.77557	0.99	T	0.68515	-0.5388	10	0.56958	D	0.05	-13.8875	12.9846	0.58583	1.0:0.0:0.0:0.0	.	20	O75152	ZC11A_HUMAN	G	20	ENSP00000406531:D20G;ENSP00000356183:D20G;ENSP00000356181:D20G;ENSP00000333253:D20G;ENSP00000438527:D20G;ENSP00000356179:D20G	ENSP00000333253:D20G	D	+	2	0	ZC3H11A	202054325	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.526000	0.90588	2.062000	0.61559	0.528000	0.53228	GAC	.	.	none		0.423	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		G	203787702	A	G	203787702	3	3	23	1	0	0	0	0	1	0	0	0	17557	275	10	2	65	2	ZC3H11A	1	203787702	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	315590	203787702	45462919	431	16887										
ZC3H11A	9877	hgsc.bcm.edu	37	chr1	203818973	203818973	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcttcggggagatgtagcCtcttgcaatacccaagtggc	11	12	2	1	rs41299639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:203818973C>A	ENST00000545588.1	+	14	5585	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	ZC3H11A_ENST00000332127.4_Silent_p.A586A|ZC3H11A_ENST00000367212.3_Silent_p.A586A|ZC3H11A_ENST00000367214.1_Silent_p.A586A|ZC3H11A_ENST00000367210.1_Silent_p.A586A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	586					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGATGTAGCCTCTTGCAATA	0.507													C|||	877	0.17512	0.1112	0.183	5008	,	,		18937	0.1558		0.2197	False		,,,				2504	0.2301				p.A586A		Atlas-SNP	.											.	ZC3H11A	71	.	0			c.C1758A						PASS	.	C		569,3837	253.0+/-259.1	23,523,1657	94	88	90		1758	0.5	0	1	dbSNP_127	90	1796,6804	323.2+/-315.9	196,1404,2700	no	coding-synonymous	ZC3H11A	NM_014827.4		219,1927,4357	AA,AC,CC		20.8837,12.9142,18.1839		586/811	203818973	2365,10641	2203	4300	6503	SO:0001819	synonymous_variant	9877	exon17			TGTAGCCTCTTGC		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1758C>A	1.37:g.203818973C>A		Somatic	341	1	0.00293255		WXS	Illumina HiSeq	Phase_I	492	486	0.987805	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	CCDS30978.1																																																																																			C|0.815;A|0.185	0.185	strong		0.507	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		A	203818973	C	A	203818973	2	1	23	1	0	0	0	0	0	0	0	1	17557	668	24	4		4	ZC3H11A	1	203818973	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31271	203818973	45431648	432	16888										
ZC3H11A	9877	hgsc.bcm.edu	37	chr1	203821314	203821314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcagattcctcacccccGgaggtgtctggcccttcctc	8	17	4	1	rs41264265	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:203821314G>A	ENST00000545588.1	+	17	6047	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	ZC3H11A_ENST00000332127.4_Silent_p.P740P|ZC3H11A_ENST00000367212.3_Silent_p.P740P|ZC3H11A_ENST00000367214.1_Silent_p.P740P|ZC3H11A_ENST00000367210.1_Silent_p.P740P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	740					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCACCCCCGGAGGTGTCTG	0.478													G|||	878	0.175319	0.112	0.183	5008	,	,		16468	0.1558		0.2197	False		,,,				2504	0.2301				p.P740P		Atlas-SNP	.											.	ZC3H11A	71	.	0			c.G2220A						PASS	.	G		524,3858		22,480,1689	29	33	32		2220	-11.1	0	1	dbSNP_127	32	1733,6833		192,1349,2742	no	coding-synonymous	ZC3H11A	NM_014827.4		214,1829,4431	AA,AG,GG		20.2311,11.958,17.4313		740/811	203821314	2257,10691	2191	4283	6474	SO:0001819	synonymous_variant	9877	exon20			ACCCCCGGAGGTG		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2220G>A	1.37:g.203821314G>A		Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	318	280	0.880503	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	CCDS30978.1																																																																																			.	.	weak		0.478	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		A	203821314	G	A	203821314	2	1	23	1	0	0	0	0	0	0	0	1	17557	1103	39	1		1	ZC3H11A	1	203821314	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2341	203821314	45429307	433	16889										
ZC3H11A	9877	hgsc.bcm.edu	37	chr1	203821334	203821334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggtgtctggcccttcctCatcccaaatgagcatgaaaa	10	11	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:203821334C>T	ENST00000545588.1	+	17	6067	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S747L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S747L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S747L|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S747L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	747					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCCTTCCTCATCCCAAATG	0.483																																					p.S747L		Atlas-SNP	.											ZC3H11A,NS,carcinoma,0,1	ZC3H11A	71	1	0			c.C2240T						scavenged	.						26	30	29					1																	203821334		2188	4287	6475	SO:0001583	missense	9877	exon20			CTTCCTCATCCCA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2240C>T	1.37:g.203821334C>T	ENSP00000438527:p.Ser747Leu	Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	362	3	0.00828729	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749482	0.49257	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.56	5.56	0.83823	.	0.304354	0.30446	N	0.009605	T	0.66694	0.2815	M	0.72118	2.19	0.45852	D	0.998711	D	0.89917	1.0	D	0.76575	0.988	T	0.60409	-0.7269	10	0.15952	T	0.53	-28.67	18.3078	0.90188	0.0:1.0:0.0:0.0	.	747	O75152	ZC11A_HUMAN	L	747;693;747;747;747;747	ENSP00000356183:S747L;ENSP00000356181:S747L;ENSP00000333253:S747L;ENSP00000438527:S747L;ENSP00000356179:S747L	ENSP00000333253:S747L	S	+	2	0	ZC3H11A	202087957	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	5.671000	0.68095	2.619000	0.88677	0.557000	0.71058	TCA	.	.	none		0.483	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		T	203821334	C	T	203821334	3	4	23	1	0	0	0	0	1	0	0	0	17557	838	29	2	2302	2	ZC3H11A	1	203821334	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20	203821334	45429287	434	16890										
KISS1	3814	hgsc.bcm.edu	37	chr1	204159922	204159922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcccagggattctagctgcTggcctaggacagagggcaca	15	11	1	1	rs35431622	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:204159922T>C	ENST00000367194.4	-	3	255	c.107A>G	c.(106-108)cAg>cGg	p.Q36R		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	36			Q -> R (in dbSNP:rs35431622). {ECO:0000269|PubMed:15598687}.		cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		TTCTAGCTGCTGGCCTAGGAC	0.627													T|||	376	0.0750799	0.2118	0.0461	5008	,	,		13089	0.0		0.0437	False		,,,				2504	0.0204				p.Q36R		Atlas-SNP	.											.	KISS1	6	.	0			c.A107G						PASS	.	T	ARG/GLN	492,2418		35,422,998	10	12	11		107	-2.8	0	1	dbSNP_126	11	258,6504		10,238,3133	yes	missense	KISS1	NM_002256.3	43	45,660,4131	CC,CT,TT		3.8154,16.9072,7.7543	benign	36/139	204159922	750,8922	1455	3381	4836	SO:0001583	missense	3814	exon3			AGCTGCTGGCCTA	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.107A>G	1.37:g.204159922T>C	ENSP00000356162:p.Gln36Arg	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	127	26	0.204724	NM_002256	A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	CCDS41454.1	140	0.0641025641025641	90	0.18292682926829268	21	0.058011049723756904	0	0.0	29	0.03825857519788918	T	6.208	0.406493	0.11754	0.169072	0.038154	ENSG00000170498	ENST00000367194	T	0.70869	-0.52	4.46	-2.78	0.05859	.	0.506089	0.16641	N	0.205660	T	0.00073	0.0002	N	0.12746	0.255	0.80722	P	0.0	B	0.24258	0.1	B	0.15052	0.012	T	0.04128	-1.0975	9	0.20046	T	0.44	-1.2884	1.3061	0.02088	0.1365:0.1816:0.3428:0.3391	rs35431622;rs59402757	36	Q15726	KISS1_HUMAN	R	36	ENSP00000356162:Q36R	ENSP00000356162:Q36R	Q	-	2	0	KISS1	202426545	0.001000	0.12720	0.039000	0.18376	0.011000	0.07611	-0.160000	0.10041	-0.610000	0.05716	-0.250000	0.11733	CAG	T|0.941;C|0.059	0.059	strong		0.627	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		C	204159922	T	C	204159922	3	2	23	1	0	0	0	0	1	0	0	0	8327	1580	55	3	313	3	KISS1	1	204159922	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	338588	204159922	45090699	435	16891										
PLEKHA6	22874	hgsc.bcm.edu	37	chr1	204199614	204199614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggctcctccgcttctccCtcatggagccactctggtgc	10	17	3	0	rs10900562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:204199614C>T	ENST00000272203.3	-	18	2826	c.2510G>A	c.(2509-2511)aGg>aAg	p.R837K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R857K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	837			R -> K (in dbSNP:rs10900562). {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:15489334}.							breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCGCTTCTCCCTCATGGAGCC	0.652													T|||	2557	0.510583	0.6914	0.5375	5008	,	,		13874	0.4802		0.4334	False		,,,				2504	0.3579				p.R837K		Atlas-SNP	.											PLEKHA6,colon,carcinoma,0,1	PLEKHA6	115	1	0			c.G2510A						PASS	.	T	LYS/ARG	2895,1507		980,935,286	22	21	22		2510	2.9	1	1	dbSNP_120	22	3909,4671		909,2091,1290	yes	missense	PLEKHA6	NM_014935.2	26	1889,3026,1576	TT,TC,CC		45.5594,34.2344,47.589	benign	837/1049	204199614	6804,6178	2201	4290	6491	SO:0001583	missense	22874	exon18			TTCTCCCTCATGG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2510G>A	1.37:g.204199614C>T	ENSP00000272203:p.Arg837Lys	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	223	221	0.991031	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	1131	0.5178571428571429	332	0.6747967479674797	193	0.5331491712707183	277	0.48426573426573427	329	0.4340369393139842	T	9.062	0.994763	0.19043	0.657656	0.455594	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.22743	1.94;2.4	5.24	2.91	0.33838	.	0.157126	0.56097	N	0.000034	T	0.00012	0.0000	N	0.10972	0.075	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.15499	T	0.54	-21.9669	9.0092	0.36131	0.0:0.216:0.0:0.7839	rs10900562;rs58953574;rs10900562	837	Q9Y2H5	PKHA6_HUMAN	K	837;857	ENSP00000272203:R837K;ENSP00000402046:R857K	ENSP00000272203:R837K	R	-	2	0	PLEKHA6	202466237	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	3.200000	0.51051	0.026000	0.15269	-1.390000	0.01156	AGG	C|0.466;T|0.534	0.534	strong		0.652	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204199614	C	T	204199614	3	4	23	1	0	0	0	0	1	0	0	0	12060	681	24	2	656	2	PLEKHA6	1	204199614	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39692	204199614	45051007	436	16892										
PIK3C2B	5287	hgsc.bcm.edu	37	chr1	204434438	204434438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attggcaacagtgtggggccGggagcccacctttaagagaa	14	9	0	1	rs45492196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:204434438G>A	ENST00000367187.3	-	4	1499	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R315W	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	315					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGTGGGGCCGGGAGCCCACC	0.502													G|||	92	0.0183706	0.0038	0.0202	5008	,	,		16995	0.001		0.0537	False		,,,				2504	0.0184				p.R315W		Atlas-SNP	.											.	PIK3C2B	142	.	0			c.C943T						PASS	.	G	TRP/ARG	46,4360	47.5+/-82.1	0,46,2157	91	95	94		943	3.3	1	1	dbSNP_127	94	459,8141	136.2+/-193.3	12,435,3853	yes	missense	PIK3C2B	NM_002646.3	101	12,481,6010	AA,AG,GG		5.3372,1.044,3.8828	probably-damaging	315/1635	204434438	505,12501	2203	4300	6503	SO:0001583	missense	5287	exon4			GGGGCCGGGAGCC	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.943C>T	1.37:g.204434438G>A	ENSP00000356155:p.Arg315Trp	Somatic	376	0	0		WXS	Illumina HiSeq	Phase_I	513	306	0.596491	NM_002646	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	53	0.024267399267399268	4	0.008130081300813009	10	0.027624309392265192	0	0.0	39	0.051451187335092345	G	18.81	3.704108	0.68615	0.01044	0.053372	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.62232	0.04;0.11	5.24	3.35	0.38373	.	0.728159	0.12772	N	0.440488	T	0.19805	0.0476	L	0.44542	1.39	0.37785	D	0.927165	D;P	0.71674	0.998;0.83	P;B	0.52856	0.711;0.23	T	0.51325	-0.8720	10	0.87932	D	0	.	2.2963	0.04151	0.1668:0.1537:0.5205:0.159	rs45492196;rs61749328	315;315	F5GWN5;O00750	.;P3C2B_HUMAN	W	315;315;93;93	ENSP00000356155:R315W;ENSP00000400561:R315W	ENSP00000356152:R93W	R	-	1	2	PIK3C2B	202701061	0.999000	0.42202	0.990000	0.47175	0.941000	0.58515	1.269000	0.33074	0.586000	0.29626	0.655000	0.94253	CGG	G|0.963;A|0.037	0.037	strong		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		A	204434438	G	A	204434438	3	1	23	1	0	0	0	0	1	0	0	0	11910	1115	39	1	4085	1	PIK3C2B	1	204434438	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	234824	204434438	44816183	437	16893										
CDK18	5129	hgsc.bcm.edu	37	chr1	205492679	205492679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttctccccaacagacagcGgggaggagccggggcagctc	14	15	1	1	rs4623769	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:205492679G>A	ENST00000360066.2	+	3	500	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Missense_Mutation_p.G67R|CDK18_ENST00000429964.2_Missense_Mutation_p.G67R	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	65							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AACAGACAGCGGGGAGGAGCC	0.677													G|||	503	0.100439	0.171	0.1441	5008	,	,		16267	0.0407		0.0507	False		,,,				2504	0.0869				p.G67R	Pancreas(180;489 2072 28461 40831 44265)	Atlas-SNP	.											.	CDK18	75	.	0			c.G199A						PASS	.	G	ARG/GLY,ARG/GLY,ARG/GLY	599,3797		38,523,1637	12	14	14		199,199,199	3.8	0.5	1	dbSNP_111	14	424,8164		12,400,3882	yes	missense,missense,missense	CDK18	NM_002596.3,NM_212502.2,NM_212503.2	125,125,125	50,923,5519	AA,AG,GG		4.9371,13.626,7.8789	benign,benign,benign	67/475,67/475,67/505	205492679	1023,11961	2198	4294	6492	SO:0001583	missense	5129	exon3			GACAGCGGGGAGG	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.199G>A	1.37:g.205492679G>A	ENSP00000353176:p.Gly67Arg	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	326	115	0.352761	NM_212503	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	CCDS44300.1	193	0.08836996336996338	78	0.15853658536585366	43	0.11878453038674033	31	0.05419580419580419	41	0.05408970976253298	G	11.51	1.660892	0.29515	0.13626	0.049371	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70869	-0.4;-0.52;-0.4;1.46;1.33	5.67	3.76	0.43208	.	0.577198	0.17972	N	0.155802	T	0.00440	0.0014	L	0.60455	1.87	0.58432	P	1.0000000000287557E-6	B;B	0.20780	0.048;0.027	B;B	0.15870	0.014;0.008	T	0.14531	-1.0469	9	0.23302	T	0.38	-23.597	9.8988	0.41335	0.1696:0.0:0.8304:0.0	rs4623769;rs58502063;rs4623769	67;67	Q07002-3;Q07002-2	.;.	R	67;67;67;46;67	ENSP00000399082:G67R;ENSP00000423665:G67R;ENSP00000353176:G67R;ENSP00000397831:G46R;ENSP00000391324:G67R	ENSP00000353176:G67R	G	+	1	0	CDK18	203759302	0.950000	0.32346	0.507000	0.27676	0.569000	0.35902	2.371000	0.44248	0.718000	0.32166	0.591000	0.81541	GGG	G|0.915;A|0.085	0.085	strong		0.677	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		A	205492679	G	A	205492679	3	1	23	1	0	0	0	0	1	0	0	0	3134	1116	39	1	205	1	CDK18	1	205492679	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1058241	205492679	43757942	438	16894										
MFSD4	148808	hgsc.bcm.edu	37	chr1	205554085	205554085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgccatccacatcacggGcgccctggtactgttcatga	9	14	2	1	rs7526132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:205554085G>C	ENST00000367147.4	+	5	1034	c.941G>C	c.(940-942)gGc>gCc	p.G314A	MFSD4_ENST00000536357.1_Missense_Mutation_p.G227A|MFSD4_ENST00000539267.1_Missense_Mutation_p.G314A	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	314			G -> A (in dbSNP:rs7526132). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CACATCACGGGCGCCCTGGTA	0.602											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2133	0.425919	0.708	0.4942	5008	,	,		16679	0.0813		0.4503	False		,,,				2504	0.3262				p.G314A		Atlas-SNP	.											.	MFSD4	46	.	0			c.G941C						PASS	.	C	ALA/GLY	2876,1530	484.2+/-360.0	923,1030,250	119	115	116		941	4.8	0	1	dbSNP_116	116	4124,4476	590.4+/-392.7	1005,2114,1181	yes	missense	MFSD4	NM_181644.4	60	1928,3144,1431	CC,CG,GG		47.9535,34.7254,46.1787	benign	314/515	205554085	7000,6006	2203	4300	6503	SO:0001583	missense	148808	exon5			TCACGGGCGCCCT	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.941G>C	1.37:g.205554085G>C	ENSP00000356115:p.Gly314Ala	Somatic	161	1	0.00621118	2153	WXS	Illumina HiSeq	Phase_I	157	156	0.993631	NM_181644	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	CCDS1455.1	908	0.4157509157509158	325	0.6605691056910569	176	0.4861878453038674	49	0.08566433566433566	358	0.47229551451187335	C	2.834	-0.241878	0.05906	0.652746	0.479535	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80214	-1.35;-1.35;-1.35	5.77	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);	0.098253	0.64402	N	0.000001	T	0.00012	0.0000	N	0.26042	0.785	0.44221	P	0.002947000000000033	B;B;B	0.20164	0.0;0.001;0.042	B;B;B	0.21546	0.002;0.006;0.035	T	0.42430	-0.9452	9	0.16420	T	0.52	-20.5692	15.5649	0.76284	0.0:0.6577:0.3423:0.0	rs7526132;rs17347495;rs17857120;rs52798117;rs7526132	259;227;314	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	A	314;314;227	ENSP00000356115:G314A;ENSP00000445329:G314A;ENSP00000440183:G227A	ENSP00000356115:G314A	G	+	2	0	MFSD4	203820708	1.000000	0.71417	0.040000	0.18447	0.709000	0.40893	4.195000	0.58400	1.594000	0.50039	-0.120000	0.15030	GGC	G|0.514;C|0.486	0.486	strong		0.602	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		C	205554085	G	C	205554085	3	2	23	1	0	0	0	0	1	0	0	0	9533	1203	42	4	959	4	MFSD4	1	205554085	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61406	205554085	43696536	439	16895										
SLC26A9	115019	hgsc.bcm.edu	37	chr1	205884508	205884508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggcggtcagggtctctgCgtgaaacatgctcccgaaca	13	12	2	1	rs147005854		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:205884508C>T	ENST00000367135.3	-	21	2466	c.2353G>A	c.(2353-2355)Gca>Aca	p.A785T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A785T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A785T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	785					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGGTCTCTGCGTGAAACATG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19734	0.0		0.001	False		,,,				2504	0.0				p.A785T		Atlas-SNP	.											.	SLC26A9	176	.	0			c.G2353A						PASS	.	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	108	98	102		2353,2353	-10.9	0	1	dbSNP_134	102	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense	SLC26A9	NM_052934.3,NM_134325.2	58,58	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign,benign	785/792,785/888	205884508	9,12997	2203	4300	6503	SO:0001583	missense	115019	exon21			TCTCTGCGTGAAA	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2353G>A	1.37:g.205884508C>T	ENSP00000356103:p.Ala785Thr	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	254	88	0.346457	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.411	-0.120195	0.06838	2.27E-4	9.3E-4	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92699	-3.09;-2.98;-3.09	5.44	-10.9	0.00192	.	1.255410	0.05466	N	0.552214	T	0.76772	0.4034	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.65307	-0.6200	10	0.11794	T	0.64	.	10.9011	0.47051	0.2271:0.5876:0.0:0.1853	.	785;785	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	785	ENSP00000341682:A785T;ENSP00000356103:A785T;ENSP00000356102:A785T	ENSP00000341682:A785T	A	-	1	0	SLC26A9	204151131	0.000000	0.05858	0.035000	0.18076	0.935000	0.57460	-2.719000	0.00812	-3.835000	0.00101	-1.327000	0.01280	GCA	C|0.999;T|0.001	0.001	strong		0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		T	205884508	C	T	205884508	3	4	23	1	0	0	0	0	1	0	0	0	14524	768	27	1	322	1	SLC26A9	1	205884508	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	330423	205884508	43366113	440	16896										
AVPR1B	553	hgsc.bcm.edu	37	chr1	206225260	206225260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcatcaacaccatctcaCgggccaagatccgaacagtg	9	14	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:206225260C>G	ENST00000367126.4	+	1	1285	c.820C>G	c.(820-822)Cgg>Ggg	p.R274G	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	274					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACCATCTCACGGGCCAAGAT	0.597																																					p.R274G		Atlas-SNP	.											.	AVPR1B	47	.	0			c.C820G						PASS	.						71	68	69					1																	206225260		2203	4300	6503	SO:0001583	missense	553	exon1			ATCTCACGGGCCA	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.820C>G	1.37:g.206225260C>G	ENSP00000356094:p.Arg274Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	190	39	0.205263	NM_000707	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537242	0.45176	.	.	ENSG00000198049	ENST00000367126	T	0.40756	1.02	5.34	-0.645	0.11475	GPCR, rhodopsin-like superfamily (1);	0.081659	0.48767	D	0.000165	T	0.65974	0.2743	M	0.85777	2.775	0.25895	N	0.983424	D	0.89917	1.0	D	0.83275	0.996	T	0.67189	-0.5733	10	0.72032	D	0.01	-31.1727	16.7694	0.85533	0.7528:0.2472:0.0:0.0	.	274	P47901	V1BR_HUMAN	G	274	ENSP00000356094:R274G	ENSP00000356094:R274G	R	+	1	2	AVPR1B	204391883	0.001000	0.12720	0.110000	0.21437	0.836000	0.47400	0.017000	0.13399	-0.086000	0.12550	0.462000	0.41574	CGG	.	.	none		0.597	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		G	206225260	C	G	206225260	3	3	23	1	0	0	0	0	1	0	0	0	1232	527	19	4	822	4	AVPR1B	1	206225260	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	340752	206225260	43025361	441	16897										
AVPR1B	553	hgsc.bcm.edu	37	chr1	206230986	206230986	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccgacggcagcctctcGagccgccacaccacgctgct	9	20	2	0	rs28676508	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:206230986G>A	ENST00000367126.4	+	2	1584	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	373					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCAGCCTCTCGAGCCGCCACA	0.701													G|||	1203	0.240216	0.4962	0.1225	5008	,	,		12235	0.0923		0.1312	False		,,,				2504	0.2423				p.S373S		Atlas-SNP	.											AVPR1B,rectum,carcinoma,0,1	AVPR1B	47	1	0			c.G1119A						scavenged	.	G		1866,2526		424,1018,754	13	15	14		1119	-4.5	0.2	1	dbSNP_125	14	1019,7549		71,877,3336	no	coding-synonymous	AVPR1B	NM_000707.3		495,1895,4090	AA,AG,GG		11.8931,42.4863,22.2608		373/425	206230986	2885,10075	2196	4284	6480	SO:0001819	synonymous_variant	553	exon2			CCTCTCGAGCCGC	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1119G>A	1.37:g.206230986G>A		Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	65	40	0.615385	NM_000707	B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	CCDS30994.1																																																																																			G|0.775;A|0.225	0.225	strong		0.701	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		A	206230986	G	A	206230986	2	1	23	1	0	0	0	0	0	0	0	1	1232	1045	37	1		1	AVPR1B	1	206230986	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5726	206230986	43019635	442	16898										
PFKFB2	5208	hgsc.bcm.edu	37	chr1	207238419	207238419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgactatcctgaaaggaaCagagagaacgtgatggagga	13	7	0	5	rs72741390	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:207238419C>T	ENST00000367080.3	+	8	670	c.546C>T	c.(544-546)aaC>aaT	p.N182N	PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Silent_p.N149N|PFKFB2_ENST00000367079.2_Silent_p.N182N|PFKFB2_ENST00000411990.2_Silent_p.N84N	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	182	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTGAAAGGAACAGAGAGAACG	0.458													C|||	555	0.110823	0.0257	0.1542	5008	,	,		16547	0.0079		0.2753	False		,,,				2504	0.1319				p.N182N		Atlas-SNP	.											.	PFKFB2	70	.	0			c.C546T						PASS	.	C	,	257,4149	149.9+/-184.0	7,243,1953	118	105	109		546,546	4	1	1	dbSNP_130	109	2240,6360	380.1+/-339.5	312,1616,2372	no	coding-synonymous,coding-synonymous	PFKFB2	NM_001018053.1,NM_006212.2	,	319,1859,4325	TT,TC,CC		26.0465,5.833,19.1988	,	182/472,182/506	207238419	2497,10509	2203	4300	6503	SO:0001819	synonymous_variant	5208	exon8			AAGGAACAGAGAG		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.546C>T	1.37:g.207238419C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	207	75	0.362319	NM_001018053	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	CCDS31004.1																																																																																			C|0.815;T|0.185	0.185	strong		0.458	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			T	207238419	C	T	207238419	2	4	23	1	0	0	0	0	0	0	0	1	11761	477	17	2		2	PFKFB2	1	207238419	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1007433	207238419	42012202	443	16899										
CR2	1380	hgsc.bcm.edu	37	chr1	207653364	207653364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttaccttcttgattgtcAttaccttatacgtgatatca	4	9	4	2	rs17618	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:207653364A>G	ENST00000367058.3	+	17	3166	c.2977A>G	c.(2977-2979)Att>Gtt	p.I993V	CR2_ENST00000458541.2_Missense_Mutation_p.I966V|CR2_ENST00000367059.3_Missense_Mutation_p.I931V|CR2_ENST00000367057.3_Missense_Mutation_p.I1052V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	993			I -> V (in dbSNP:rs17258982). {ECO:0000269|PubMed:2832506}.		B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTGATTGTCATTACCTTATA	0.398													G|||	246	0.0491214	0.0643	0.0562	5008	,	,		20250	0.002		0.0716	False		,,,				2504	0.0491				p.I1052V		Atlas-SNP	.											.	CR2	164	.	0			c.A3154G						PASS	.	G	VAL/ILE,VAL/ILE	426,3980	784.9+/-414.7	24,378,1801	226	207	214		3154,2977	2.8	0	1	dbSNP_123	214	630,7968	790.3+/-407.6	23,584,3692	yes	missense,missense	CR2	NM_001006658.2,NM_001877.4	29,29	47,962,5493	GG,GA,AA		7.3273,9.6686,8.1206	benign,benign	1052/1093,993/1034	207653364	1056,11948	2203	4299	6502	SO:0001583	missense	1380	exon18			ATTGTCATTACCT	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2977A>G	1.37:g.207653364A>G	ENSP00000356025:p.Ile993Val	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	296	111	0.375	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	94	0.04304029304029304	25	0.0508130081300813	19	0.052486187845303865	0	0.0	50	0.06596306068601583	G	0.015	-1.556300	0.00910	0.096686	0.073273	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.30448	1.6;1.53;1.75;1.58	4.63	2.75	0.32379	.	.	.	.	.	T	0.00241	0.0007	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	9	0.02654	T	1	.	6.7795	0.23638	0.2898:0.0:0.7102:0.0	rs17618	931;993;1052	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	V	993;1052;931;966	ENSP00000356025:I993V;ENSP00000356024:I1052V;ENSP00000356026:I931V;ENSP00000404222:I966V	ENSP00000356024:I1052V	I	+	1	0	CR2	205719987	0.004000	0.15560	0.004000	0.12327	0.001000	0.01503	0.535000	0.23114	0.298000	0.22638	-0.320000	0.08662	ATT	A|0.932;G|0.068	0.068	strong		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		G	207653364	A	G	207653364	3	3	23	1	0	0	0	0	1	0	0	0	3842	217	8	2	3224	2	CR2	1	207653364	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	414945	207653364	41597257	444	16900										
CR1	1378	hgsc.bcm.edu	37	chr1	207741312	207741312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttcgacctcattggagagAgcaccatccgctgcacaagt	10	13	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:207741312A>G	ENST00000367049.4	+	25	4096	c.4096A>G	c.(4096-4098)Agc>Ggc	p.S1366G	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.S916G|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.S916G|CR1_ENST00000367051.1_Missense_Mutation_p.S916G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	916	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATTGGAGAGAGCACCATCCG	0.547																																					p.S1366G		Atlas-SNP	.											CR1_ENST00000367049,NS,carcinoma,-2,2	CR1	354	2	0			c.A4096G						scavenged	.						86	105	99					1																	207741312		1816	4082	5898	SO:0001583	missense	1378	exon25			GGAGAGAGCACCA	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4096A>G	1.37:g.207741312A>G	ENSP00000356016:p.Ser1366Gly	Somatic	368	2	0.00543478		WXS	Illumina HiSeq	Phase_I	514	5	0.00972763	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	a	16.47	3.131842	0.56828	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	2.73	1.55	0.23275	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73682	0.3618	M	0.77103	2.36	0.22745	N	0.998781	D;D;D;D	0.64830	0.994;0.99;0.993;0.994	D;D;D;D	0.79108	0.963;0.982;0.919;0.992	T	0.58983	-0.7539	9	0.33141	T	0.24	.	5.9694	0.19342	0.7324:0.2675:0.0:0.0	.	916;466;916;1366	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	G	916;916;916;1366	ENSP00000356018:S916G;ENSP00000356020:S916G;ENSP00000383744:S916G;ENSP00000356016:S1366G	ENSP00000356016:S1366G	S	+	1	0	CR1	205807935	0.940000	0.31905	0.979000	0.43373	0.756000	0.42949	0.034000	0.13776	0.440000	0.26502	0.402000	0.26972	AGC	.	.	none		0.547	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207741312	A	G	207741312	3	3	23	1	0	0	0	0	1	0	0	0	3840	304	11	3	4194	3	CR1	1	207741312	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	87948	207741312	41509309	445	16901										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208252777	208252777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcagctctcccgctgggctGcacacttgtagagatggact	12	13	1	1	rs17011882	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:208252777G>C	ENST00000367033.3	-	12	3171	c.2414C>G	c.(2413-2415)gCa>gGa	p.A805G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	805			A -> G (in dbSNP:rs17011882).		axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGCTGGGCTGCACACTTGTA	0.587													G|||	228	0.0455272	0.0015	0.098	5008	,	,		19890	0.1022		0.0189	False		,,,				2504	0.0368				p.A805G		Atlas-SNP	.											PLXNA2,NS,carcinoma,+1,1	PLXNA2	178	1	0			c.C2414G						PASS	.	G	GLY/ALA	29,4375		0,29,2173	20	21	21		2414	4.7	0.5	1	dbSNP_123	21	149,8451		0,149,4151	yes	missense	PLXNA2	NM_025179.3	60	0,178,6324	CC,CG,GG		1.7326,0.6585,1.3688	benign	805/1895	208252777	178,12826	2202	4300	6502	SO:0001583	missense	5362	exon12			TGGGCTGCACACT	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2414C>G	1.37:g.208252777G>C	ENSP00000356000:p.Ala805Gly	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	110	63	0.572727	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	103	0.04716117216117216	1	0.0020325203252032522	35	0.09668508287292818	53	0.09265734265734266	14	0.018469656992084433	G	6.591	0.477461	0.12521	0.006585	0.017326	ENSG00000076356	ENST00000367033	T	0.56611	0.45	5.6	4.66	0.58398	.	0.155240	0.56097	D	0.000026	T	0.00998	0.0033	N	0.11892	0.195	0.20873	P	0.999835302	B	0.11235	0.004	B	0.11329	0.006	T	0.04115	-1.0976	9	0.21540	T	0.41	.	16.2292	0.82321	0.0:0.1332:0.8668:0.0	rs17011882;rs52798765;rs17011882	805	O75051	PLXA2_HUMAN	G	805	ENSP00000356000:A805G	ENSP00000356000:A805G	A	-	2	0	PLXNA2	206319400	1.000000	0.71417	0.548000	0.28192	0.994000	0.84299	4.978000	0.63799	1.308000	0.44962	0.655000	0.94253	GCA	G|0.972;C|0.028	0.028	strong		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208252777	G	C	208252777	3	2	23	1	0	0	0	0	1	0	0	0	12120	1319	46	4	3354	4	PLXNA2	1	208252777	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	511465	208252777	40997844	446	16902										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208390155	208390155	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgccctggtagcaggactgCaggcgctccttgatctgcaa					rs4844657	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:208390155C>T	ENST00000367033.3	-	2	1870	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCAGGACTGCAGGCGCTCCT	0.612													C|||	639	0.127596	0.0461	0.2046	5008	,	,		22102	0.1429		0.2078	False		,,,				2504	0.0849				p.L371L		Atlas-SNP	.											.	PLXNA2	178	.	0			c.G1113A						PASS	.	C		258,4148	146.5+/-181.1	8,242,1953	70	67	68		1113	0.8	1	1	dbSNP_111	68	1646,6954	303.7+/-306.6	167,1312,2821	no	coding-synonymous	PLXNA2	NM_025179.3		175,1554,4774	TT,TC,CC		19.1395,5.8557,14.6394		371/1895	208390155	1904,11102	2203	4300	6503	SO:0001819	synonymous_variant	5362	exon2			GGACTGCAGGCGC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1113G>A	1.37:g.208390155C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	136	88	0.647059	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	CCDS31013.1																																																																																			C|0.856;T|0.144	0.144	strong		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208390155	C	T	208390155	2	4	23	1	0	0	0	0	0	0	0	1	12120	697	25	2		2	PLXNA2	1	208390155	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	137378	208390155	40860466	447	16903	362	2								
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208390162	208390162	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtagcaggactgcaggcgcTccttgatctgcaagttgatg					rs4844658	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:208390162T>C	ENST00000367033.3	-	2	1863	c.1106A>G	c.(1105-1107)gAg>gGg	p.E369G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	369	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		E -> G (in dbSNP:rs4844658). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9455484}.		axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGCGCTCCTTGATCTG	0.602													T|||	594	0.11861	0.0121	0.2032	5008	,	,		21845	0.1429		0.2087	False		,,,				2504	0.0849				p.E369G		Atlas-SNP	.											.	PLXNA2	178	.	0			c.A1106G						PASS	.	T	GLY/GLU	148,4258	101.6+/-140.2	3,142,2058	68	66	66		1106	5.8	1	1	dbSNP_111	66	1646,6954	303.3+/-306.4	168,1310,2822	yes	missense	PLXNA2	NM_025179.3	98	171,1452,4880	CC,CT,TT		19.1395,3.3591,13.7936	benign	369/1895	208390162	1794,11212	2203	4300	6503	SO:0001583	missense	5362	exon2			AGGCGCTCCTTGA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1106A>G	1.37:g.208390162T>C	ENSP00000356000:p.Glu369Gly	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	145	95	0.655172	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	306	0.1401098901098901	11	0.022357723577235773	64	0.17679558011049723	72	0.1258741258741259	159	0.20976253298153033	T	19.24	3.789846	0.70337	0.033591	0.191395	ENSG00000076356	ENST00000367033	T	0.12039	2.72	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.123712	0.53938	D	0.000054	T	0.00039	0.0001	M	0.83603	2.65	0.19300	P	0.9999736942	D;P	0.57257	0.979;0.66	P;B	0.57846	0.828;0.215	T	0.07888	-1.0749	9	0.87932	D	0	.	11.3143	0.49383	0.1358:0.0:0.0:0.8642	rs4844658;rs17458917;rs4844658	423;369	O75051-2;O75051	.;PLXA2_HUMAN	G	369	ENSP00000356000:E369G	ENSP00000356000:E369G	E	-	2	0	PLXNA2	206456785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.876000	0.69667	2.232000	0.73038	0.533000	0.62120	GAG	T|0.865;C|0.135	0.135	strong		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208390162	T	C	208390162	3	2	23	1	0	0	0	0	1	0	0	0	12120	1551	54	3	4702	3	PLXNA2	1	208390162	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7	208390162	40860459	448	16904	362	2								
SYT14	255928	hgsc.bcm.edu	37	chr1	210267894	210267896	+	In_Frame_Del	DEL	GAA	GAA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttcataataaaggatatGaagaagatgttccaagtgac					rs144713062|rs200839898|rs2307890	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:210267894_210267896delGAA	ENST00000472886.1	+	5	684_686	c.670_672delGAA	c.(670-672)gaadel	p.E225del	SYT14_ENST00000399639.2_In_Frame_Del_p.E225del|SYT14_ENST00000422431.1_In_Frame_Del_p.E270del|SYT14_ENST00000534859.1_In_Frame_Del_p.E225del|SYT14_ENST00000537238.1_In_Frame_Del_p.E187del|SYT14_ENST00000367019.1_In_Frame_Del_p.E225del|SYT14_ENST00000367015.1_In_Frame_Del_p.E187del|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	225					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TAAAGGATATGAAGAAGATGTTC	0.384														399	0.0796725	0.0098	0.0677	5008	,	,		16957	0.0655		0.1421	False		,,,				2504	0.1329				p.268_269del		Pindel,Atlas-Indel	.											.	SYT14	89	.	0			c.804_806del						PASS	.		,,,	107,4159		4,99,2030					,,,	2.2	1		dbSNP_134	76	1145,7109		84,977,3066	no	coding,coding,coding,coding	SYT14	NM_153262.2,NM_001146264.1,NM_001146262.1,NM_001146261.1	,,,	88,1076,5096	A1A1,A1R,RR		13.8721,2.5082,10.0	,,,	,,,		1252,11268				SO:0001651	inframe_deletion	255928	exon6			.	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.670_672delGAA	1.37:g.210267897_210267899delGAA	ENSP00000418901:p.Glu225del	Somatic	182	.	.		WXS	Illumina HiSeq	Phase_I	219	51	0.233	NM_001146264	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	In_Frame_Del	DEL	ENST00000472886.1	37	CCDS31014.1																																																																																			GAA|0.912;-|0.088	0.088	strong		0.384	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		-	210267896	GAA	-	210267894	7	5	23	1	0	1	0	1	0	0	0	0	15467	1291	45	0	827	0	SYT14	1	210267894	In_Frame_Del	DEL	GAA	TCGA-GR-7353-01A-11D-2210-10	1877732	210267894	38982727	449	16905										
SYT14	255928	hgsc.bcm.edu	37	chr1	210334081	210334081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttcttctttagatacataTgttaagttaactctactgaa	4	6	3	2	rs17188183	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:210334081T>C	ENST00000472886.1	+	8	1376	c.1362T>C	c.(1360-1362)taT>taC	p.Y454Y	SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000422431.1_Silent_p.Y518Y|SYT14_ENST00000534859.1_Silent_p.Y480Y|SYT14_ENST00000537238.1_Silent_p.Y416Y|SYT14_ENST00000367019.1_Silent_p.Y473Y|SYT14_ENST00000367015.1_Silent_p.Y416Y|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TAGATACATATGTTAAGTTAA	0.318													T|||	377	0.0752796	0.0121	0.0677	5008	,	,		17664	0.0486		0.1402	False		,,,				2504	0.1268				p.Y518Y		Atlas-SNP	.											.	SYT14	89	.	0			c.T1554C						PASS	.	T	,,,	117,4289	86.3+/-125.0	3,111,2089	76	76	76		1554,1419,1497,1362	4.7	1	1	dbSNP_123	76	1169,7431	237.2+/-269.1	83,1003,3214	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	,,,	86,1114,5303	CC,CT,TT		13.593,2.6555,9.8877	,,,	518/620,473/575,499/601,454/556	210334081	1286,11720	2203	4300	6503	SO:0001819	synonymous_variant	255928	exon10			TACATATGTTAAG	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1362T>C	1.37:g.210334081T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	132	53	0.401515	NM_001146261	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	CCDS31014.1																																																																																			T|0.914;C|0.086	0.086	strong		0.318	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		C	210334081	T	C	210334081	2	2	23	1	0	0	0	0	0	0	0	1	15467	1471	51	2		2	SYT14	1	210334081	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	66187	210334081	38916540	450	16906										
NEK2	4751	hgsc.bcm.edu	37	chr1	211846876	211846876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttttgcaaaactcgtgtcAtggtttaatattctagctag	8	6	2	0	rs701929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:211846876A>G	ENST00000366999.4	-	3	642	c.504T>C	c.(502-504)caT>caC	p.H168H	NEK2_ENST00000462283.1_5'Flank|NEK2_ENST00000540251.1_Silent_p.H125H|NEK2_ENST00000366998.3_Silent_p.H168H|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AACTCGTGTCATGGTTTAATA	0.368													G|||	3020	0.603035	0.5454	0.6671	5008	,	,		19471	0.7252		0.4732	False		,,,				2504	0.6431				p.H168H		Atlas-SNP	.											.	NEK2	49	.	0			c.T504C						PASS	.	G	,,	2353,2053	566.7+/-382.0	640,1073,490	86	88	87		504,504,504	-10.5	0.2	1	dbSNP_86	87	4169,4431	586.8+/-392.1	1022,2125,1153	no	coding-synonymous,coding-synonymous,coding-synonymous	NEK2	NM_001204182.1,NM_001204183.1,NM_002497.3	,,	1662,3198,1643	GG,GA,AA		48.4767,46.5956,49.8539	,,	168/389,168/385,168/446	211846876	6522,6484	2203	4300	6503	SO:0001819	synonymous_variant	4751	exon3			CGTGTCATGGTTT	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.504T>C	1.37:g.211846876A>G		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	266	94	0.353383	NM_002497	Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Silent	SNP	ENST00000366999.4	37	CCDS1500.1																																																																																			A|0.463;G|0.537	0.537	strong		0.368	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		G	211846876	A	G	211846876	2	3	23	1	0	0	0	0	0	0	0	1	10324	214	8	2		2	NEK2	1	211846876	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1512795	211846876	37403745	451	16907										
CENPF	1063	hgsc.bcm.edu	37	chr1	214805928	214805928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagatcaaggagaatgagCtgaggagaagcatggaggta	16	4	2	5			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:214805928C>T	ENST00000366955.3	+	10	1597	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGAATGAGCTGAGGAGAAG	0.433																																					p.L477L	Colon(80;575 1284 11000 14801 43496)	Atlas-SNP	.											CENPF,colon,carcinoma,-1,1	CENPF	321	1	0			c.C1429T						scavenged	.						73	63	67					1																	214805928		2203	4300	6503	SO:0001819	synonymous_variant	1063	exon10			AATGAGCTGAGGA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1429C>T	1.37:g.214805928C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			.	.	none		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214805928	C	T	214805928	2	4	23	1	0	0	0	0	0	0	0	1	3231	796	28	2		2	CENPF	1	214805928	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2959052	214805928	34444693	452	16908										
USH2A	7399	hgsc.bcm.edu	37	chr1	215848587	215848587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgtgtcattatacataaaTgtattcctttcagtgttata	5	7	2	0	rs2797234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:215848587T>C	ENST00000307340.3	-	63	13052	c.12666A>G	c.(12664-12666)acA>acG	p.T4222T	USH2A_ENST00000366943.2_Silent_p.T4222T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4222	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4222T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATACATAAATGTATTCCTTT	0.413										HNSCC(13;0.011)			T|||	1518	0.303115	0.1793	0.4539	5008	,	,		20174	0.3155		0.3738	False		,,,				2504	0.2781				p.T4222T		Atlas-SNP	.											USH2A,NS,carcinoma,0,2	USH2A	1168	2	1	Substitution - coding silent(1)	stomach(1)	c.A12666G						PASS	.	T		983,3423	369.8+/-319.3	127,729,1347	114	112	113	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	12666	-0.2	0	1	dbSNP_100	113	3357,5243	498.4+/-374.7	670,2017,1613	no	coding-synonymous	USH2A	NM_206933.2		797,2746,2960	CC,CT,TT		39.0349,22.3105,33.3692		4222/5203	215848587	4340,8666	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon63			CATAAATGTATTC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12666A>G	1.37:g.215848587T>C		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	245	97	0.395918	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			T|0.680;C|0.320	0.320	strong		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215848587	T	C	215848587	2	2	23	1	0	0	0	0	0	0	0	1	17033	1451	51	2		2	USH2A	1	215848587	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1042659	215848587	33402034	453	16909										
USH2A	7399	hgsc.bcm.edu	37	chr1	215848641	215848641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttctcgtcggcctggatTgtctgatttccccaagcttt	8	11	2	1	rs2797235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:215848641T>C	ENST00000307340.3	-	63	12998	c.12612A>G	c.(12610-12612)acA>acG	p.T4204T	USH2A_ENST00000366943.2_Silent_p.T4204T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4204	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4204T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGCCTGGATTGTCTGATTTC	0.413										HNSCC(13;0.011)			T|||	3454	0.689696	0.6127	0.7954	5008	,	,		21060	0.6429		0.8091	False		,,,				2504	0.6442				p.T4204T		Atlas-SNP	.											USH2A,NS,carcinoma,0,1	USH2A	1168	1	1	Substitution - coding silent(1)	stomach(1)	c.A12612G						PASS	.	T		2812,1594	665.9+/-401.6	894,1024,285	124	123	123		12612	-2	0.1	1	dbSNP_100	123	7000,1600	742.9+/-407.2	2845,1310,145	no	coding-synonymous	USH2A	NM_206933.2		3739,2334,430	CC,CT,TT		18.6047,36.1779,24.5579		4204/5203	215848641	9812,3194	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon63			CTGGATTGTCTGA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12612A>G	1.37:g.215848641T>C		Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	268	265	0.988806	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			T|0.265;C|0.735	0.735	strong		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215848641	T	C	215848641	2	2	23	1	0	0	0	0	0	0	0	1	17033	1799	63	2		2	USH2A	1	215848641	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	54	215848641	33401980	454	16910										
USH2A	7399	hgsc.bcm.edu	37	chr1	215901492	215901492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggctttgtccaattcaaCagaactgaatgagcactcgt	8	10	2	3	rs2820718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:215901492C>T	ENST00000307340.3	-	61	12332	c.11946G>A	c.(11944-11946)ctG>ctA	p.L3982L	USH2A_ENST00000366943.2_Silent_p.L3982L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3982	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAATTCAACAGAACTGAAT	0.493										HNSCC(13;0.011)			C|||	595	0.11881	0.1687	0.0965	5008	,	,		17267	0.003		0.1879	False		,,,				2504	0.1155				p.L3982L		Atlas-SNP	.											.	USH2A	1168	.	0			c.G11946A						PASS	.	C		755,3651	308.6+/-290.6	75,605,1523	112	108	110	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11946	3.6	0.5	1	dbSNP_100	110	1587,7013	296.9+/-303.1	138,1311,2851	no	coding-synonymous	USH2A	NM_206933.2		213,1916,4374	TT,TC,CC		18.4535,17.1357,18.0071		3982/5203	215901492	2342,10664	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon61			ATTCAACAGAACT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11946G>A	1.37:g.215901492C>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	269	182	0.67658	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			C|0.836;T|0.164	0.164	strong		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215901492	C	T	215901492	2	4	23	1	0	0	0	0	0	0	0	1	17033	465	17	2		2	USH2A	1	215901492	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	52851	215901492	33349129	455	16911										
USH2A	7399	hgsc.bcm.edu	37	chr1	216172380	216172380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgttccagaatcccacttAtttttcttggttgtttccac	6	11	1	1	rs10864219	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:216172380A>G	ENST00000307340.3	-	34	6892	c.6506T>C	c.(6505-6507)aTa>aCa	p.I2169T	USH2A_ENST00000366943.2_Missense_Mutation_p.I2169T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2169	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in dbSNP:rs10864219). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATCCCACTTATTTTTCTTGG	0.313										HNSCC(13;0.011)			A|||	2972	0.59345	0.4206	0.6513	5008	,	,		16630	0.8343		0.497	False		,,,				2504	0.637				p.I2169T		Atlas-SNP	.											.	USH2A	1168	.	0			c.T6506C						PASS	.	A	THR/ILE	1932,2474	549.4+/-377.8	449,1034,720	127	120	123	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6506	5.8	0.9	1	dbSNP_120	123	4323,4277	576.9+/-390.5	1088,2147,1065	yes	missense	USH2A	NM_206933.2	89	1537,3181,1785	GG,GA,AA		49.7326,43.8493,48.0932	benign	2169/5203	216172380	6255,6751	2203	4300	6503	SO:0001583	missense	7399	exon34			CCACTTATTTTTC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6506T>C	1.37:g.216172380A>G	ENSP00000305941:p.Ile2169Thr	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	157	156	0.993631	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	1296	0.5934065934065934	210	0.4268292682926829	224	0.6187845303867403	484	0.8461538461538461	378	0.49868073878627966	A	8.510	0.866247	0.17250	0.438493	0.502674	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.77	5.77	0.91146	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.730054	0.11203	N	0.588593	T	0.00012	0.0000	N	0.02539	-0.55	0.48901	P	2.729999999999677E-4	B	0.23937	0.094	B	0.16722	0.016	T	0.34279	-0.9835	9	0.11485	T	0.65	.	11.5472	0.50700	0.7261:0.2738:0.0:0.0	rs10864219;rs17584229;rs52809712;rs56928409;rs10864219	2169	O75445	USH2A_HUMAN	T	2169	ENSP00000305941:I2169T;ENSP00000355910:I2169T	ENSP00000305941:I2169T	I	-	2	0	USH2A	214239003	0.984000	0.35163	0.921000	0.36526	0.472000	0.32918	2.395000	0.44459	2.199000	0.70637	0.533000	0.62120	ATA	A|0.470;G|0.530	0.530	strong		0.313	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216172380	A	G	216172380	3	3	23	1	0	0	0	0	1	0	0	0	17033	449	16	2	9258	2	USH2A	1	216172380	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	270888	216172380	33078241	456	16912										
USH2A	7399	hgsc.bcm.edu	37	chr1	216219781	216219781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagaggtcttacctgtgactAtgtagttctcctcactgcct	8	11	3	2	rs6657250	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:216219781A>G	ENST00000307340.3	-	32	6703	c.6317T>C	c.(6316-6318)aTa>aCa	p.I2106T	USH2A_ENST00000366943.2_Missense_Mutation_p.I2106T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2106	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in dbSNP:rs6657250). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I2106T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGTGACTATGTAGTTCTC	0.398										HNSCC(13;0.011)			G|||	2983	0.595647	0.7965	0.4669	5008	,	,		15317	0.4544		0.6551	False		,,,				2504	0.5				p.I2106T		Atlas-SNP	.											USH2A,NS,carcinoma,0,1	USH2A	1168	1	1	Substitution - Missense(1)	stomach(1)	c.T6317C						PASS	.	G	THR/ILE	3352,1054	385.8+/-325.9	1266,820,117	103	87	93		6317	5.4	1	1	dbSNP_116	93	5758,2842	448.5+/-361.8	1946,1866,488	yes	missense	USH2A	NM_206933.2	89	3212,2686,605	GG,GA,AA		33.0465,23.9219,29.9554	benign	2106/5203	216219781	9110,3896	2203	4300	6503	SO:0001583	missense	7399	exon32			GTGACTATGTAGT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6317T>C	1.37:g.216219781A>G	ENSP00000305941:p.Ile2106Thr	Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	1344	0.6153846153846154	399	0.8109756097560976	192	0.5303867403314917	259	0.4527972027972028	494	0.6517150395778364	G	0.007	-1.964884	0.00461	0.760781	0.669535	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.49432	0.78;0.78	5.42	5.42	0.78866	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.473539	0.17776	N	0.162428	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	9	0.14656	T	0.56	.	5.3694	0.16131	0.1724:0.0:0.6652:0.1624	rs6657250;rs52823385;rs59743196;rs6657250	2106	O75445	USH2A_HUMAN	T	2106	ENSP00000305941:I2106T;ENSP00000355910:I2106T	ENSP00000305941:I2106T	I	-	2	0	USH2A	214286404	0.866000	0.29940	0.992000	0.48379	0.091000	0.18340	0.988000	0.29616	1.442000	0.47568	-0.128000	0.14901	ATA	A|0.338;G|0.661	0.661	strong		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216219781	A	G	216219781	3	3	23	1	0	0	0	0	1	0	0	0	17033	449	16	2	9455	2	USH2A	1	216219781	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47401	216219781	33030840	457	16913										
USH2A	7399	hgsc.bcm.edu	37	chr1	216258213	216258213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccacaaaacctttttggAttatctctgcaggagtttat	7	9	1	0	rs56222536	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:216258213A>G	ENST00000307340.3	-	25	5380	c.4994T>C	c.(4993-4995)aTc>aCc	p.I1665T	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1665T|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		I -> T (in dbSNP:rs56222536). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTTTTTGGATTATCTCTGC	0.328										HNSCC(13;0.011)			A|||	314	0.0626997	0.003	0.0937	5008	,	,		16915	0.0248		0.163	False		,,,				2504	0.0573				p.I1665T		Atlas-SNP	.											.	USH2A	1168	.	0			c.T4994C						PASS	.	A	THR/ILE	124,4278	88.2+/-126.9	2,120,2079	62	65	64	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4994	2.6	0.3	1	dbSNP_129	64	1354,7246	258.8+/-282.3	113,1128,3059	yes	missense	USH2A	NM_206933.2	89	115,1248,5138	GG,GA,AA		15.7442,2.8169,11.3675	benign	1665/5203	216258213	1478,11524	2201	4300	6501	SO:0001583	missense	7399	exon25			TTTTGGATTATCT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4994T>C	1.37:g.216258213A>G	ENSP00000305941:p.Ile1665Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	132	85	0.643939	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	176	0.08058608058608059	2	0.0040650406504065045	40	0.11049723756906077	13	0.022727272727272728	121	0.15963060686015831	A	10.62	1.400689	0.25291	0.028169	0.157442	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79247	-1.25;-1.25	4.93	2.62	0.31277	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.479810	0.17138	N	0.185577	T	0.00552	0.0018	L	0.56769	1.78	0.47511	P	5.549999999999722E-4	B	0.13145	0.007	B	0.12837	0.008	T	0.14337	-1.0476	9	0.31617	T	0.26	.	4.44	0.11570	0.7008:0.0:0.1555:0.1437	rs56222536	1665	O75445	USH2A_HUMAN	T	1665	ENSP00000305941:I1665T;ENSP00000355910:I1665T	ENSP00000305941:I1665T	I	-	2	0	USH2A	214324836	0.854000	0.29725	0.299000	0.25016	0.951000	0.60555	0.932000	0.28884	0.261000	0.21753	-0.262000	0.10625	ATC	A|0.892;G|0.108	0.108	strong		0.328	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216258213	A	G	216258213	3	3	23	1	0	0	0	0	1	0	0	0	17033	333	12	2	10806	2	USH2A	1	216258213	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	38432	216258213	32992408	458	16914										
USH2A	7399	hgsc.bcm.edu	37	chr1	216462662	216462662	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catttctagtgccaactgtaTcacagtcacagggtttgcaa	8	10	3	0	rs1805048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:216462662T>A	ENST00000307340.3	-	11	2317	c.1931A>T	c.(1930-1932)gAt>gTt	p.D644V	USH2A_ENST00000366942.3_Missense_Mutation_p.D644V|USH2A_ENST00000366943.2_Missense_Mutation_p.D644V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	644	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.		D -> V (in dbSNP:rs1805048). {ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAACTGTATCACAGTCACA	0.428										HNSCC(13;0.011)			T|||	173	0.0345447	0.0015	0.0389	5008	,	,		18077	0.001		0.0825	False		,,,				2504	0.0613				p.D644V		Atlas-SNP	.											.	USH2A	1168	.	0			c.A1931T						PASS	.	T	VAL/ASP,VAL/ASP	68,4338	62.3+/-99.4	0,68,2135	171	149	156	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1931,1931	5.4	0.7	1	dbSNP_89	156	719,7881	176.5+/-226.3	29,661,3610	yes	missense,missense	USH2A	NM_007123.5,NM_206933.2	152,152	29,729,5745	AA,AT,TT		8.3605,1.5433,6.0511	benign,benign	644/1547,644/5203	216462662	787,12219	2203	4300	6503	SO:0001583	missense	7399	exon11			ACTGTATCACAGT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1931A>T	1.37:g.216462662T>A	ENSP00000305941:p.Asp644Val	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	225	131	0.582222	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	82	0.037545787545787544	2	0.0040650406504065045	19	0.052486187845303865	0	0.0	61	0.08047493403693931	T	14.76	2.630858	0.46944	0.015433	0.083605	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63913	-0.07;-0.07;-0.07	5.43	5.43	0.79202	EGF-like, laminin (3);	0.350840	0.20317	N	0.094708	T	0.09642	0.0237	M	0.76838	2.35	0.19300	P	0.9999778724	B;P	0.38677	0.171;0.642	B;B	0.40741	0.061;0.339	T	0.53732	-0.8397	9	0.20046	T	0.44	.	15.7848	0.78294	0.0:0.0:0.0:1.0	rs1805048;rs52816485	644;644	O75445-2;O75445	.;USH2A_HUMAN	V	644	ENSP00000305941:D644V;ENSP00000355910:D644V;ENSP00000355909:D644V	ENSP00000305941:D644V	D	-	2	0	USH2A	214529285	0.976000	0.34144	0.664000	0.29753	0.664000	0.39144	7.118000	0.77137	2.190000	0.69967	0.455000	0.32223	GAT	T|0.942;A|0.058	0.058	strong		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216462662	T	A	216462662	3	1	23	1	0	0	0	0	1	0	0	0	17033	1435	50	5	13939	5	USH2A	1	216462662	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	204449	216462662	32787959	459	16915										
ESRRG	2104	hgsc.bcm.edu	37	chr1	216692669	216692669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagacaagttcatcctcaaaCgaaagagaccggtatacgac	8	10	2	2	rs945453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:216692669C>T	ENST00000408911.3	-	6	1110	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ESRRG_ENST00000366940.2_Silent_p.S296S|ESRRG_ENST00000361395.2_Silent_p.S296S|ESRRG_ENST00000360012.3_Silent_p.S296S|ESRRG_ENST00000361525.3_Silent_p.S296S|ESRRG_ENST00000391890.3_Silent_p.S303S|ESRRG_ENST00000463665.1_Silent_p.S257S|ESRRG_ENST00000487276.1_Silent_p.S296S|ESRRG_ENST00000366937.1_Silent_p.S331S|ESRRG_ENST00000366938.2_Silent_p.S296S|ESRRG_ENST00000493603.1_Silent_p.S296S|ESRRG_ENST00000493748.1_Silent_p.S296S|ESRRG_ENST00000359162.2_Silent_p.S296S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	319					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATCCTCAAACGAAAGAGACC	0.473													C|||	3168	0.632588	0.733	0.6354	5008	,	,		15698	0.7381		0.4344	False		,,,				2504	0.59				p.S331S		Atlas-SNP	.											.	ESRRG	111	.	0			c.G993A						PASS	.	C	,,,	2915,1491	676.3+/-403.2	956,1003,244	89	86	87		888,957,888,888	-11	0.5	1	dbSNP_86	87	3563,5037	516.1+/-378.7	742,2079,1479	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRRG	NM_001134285.2,NM_001438.3,NM_206594.2,NM_206595.2	,,,	1698,3082,1723	TT,TC,CC		41.4302,33.8402,49.8078	,,,	296/436,319/459,296/436,296/436	216692669	6478,6528	2203	4300	6503	SO:0001819	synonymous_variant	2104	exon7			CTCAAACGAAAGA	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.957G>A	1.37:g.216692669C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	118	81	0.686441	NM_001243518	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	CCDS41468.1																																																																																			C|0.442;T|0.558	0.558	strong		0.473	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		T	216692669	C	T	216692669	2	4	23	1	0	0	0	0	0	0	0	1	5262	523	19	1		1	ESRRG	1	216692669	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	230007	216692669	32557952	460	16916										
HLX	3142	hgsc.bcm.edu	37	chr1	221054571	221054571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaccggtgggcggcccgccGgggtgcacctctcaggcctg	16	15	1	0	rs373398191		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:221054571G>A	ENST00000366903.6	+	2	2129	c.628G>A	c.(628-630)Ggg>Agg	p.G210R	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	210					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCGGCCCGCCGGGGTGCACCT	0.577																																					p.G210R		Atlas-SNP	.											HLX,NS,carcinoma,-1,1	HLX	67	1	0			c.G628A						scavenged	.	G	ARG/GLY	0,4406		0,0,2203	108	118	115		628	5.8	0.1	1		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	HLX	NM_021958.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	210/489	221054571	1,13005	2203	4300	6503	SO:0001583	missense	3142	exon2			CCCGCCGGGGTGC	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.628G>A	1.37:g.221054571G>A	ENSP00000355870:p.Gly210Arg	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	272	4	0.0147059	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227763	0.79576	0.0	1.16E-4	ENSG00000136630	ENST00000366903	D	0.90444	-2.67	5.82	5.82	0.92795	.	0.092932	0.44688	D	0.000421	D	0.87237	0.6127	L	0.29908	0.895	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	D	0.85465	0.1169	10	0.26408	T	0.33	-23.1752	19.6956	0.96023	0.0:0.0:1.0:0.0	.	210	Q14774	HLX_HUMAN	R	210	ENSP00000355870:G210R	ENSP00000355870:G210R	G	+	1	0	HLX	219121194	1.000000	0.71417	0.085000	0.20634	0.344000	0.29017	9.137000	0.94496	2.756000	0.94617	0.561000	0.74099	GGG	.	.	none		0.577	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		A	221054571	G	A	221054571	3	1	23	1	0	0	0	0	1	0	0	0	7216	1116	39	1	634	1	HLX	1	221054571	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4361902	221054571	28196050	461	16917										
MIA3	375056	hgsc.bcm.edu	37	chr1	222802376	222802376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctttggtaaatggggccaAactgcacacgctttcagtgg	12	10	1	0	rs2936052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:222802376A>G	ENST00000344922.5	+	4	1839	c.1814A>G	c.(1813-1815)aAa>aGa	p.K605R	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.K605R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	605			K -> R (in dbSNP:rs2936052).		chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K605R(2)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AATGGGGCCAAACTGCACACG	0.473													A|||	1472	0.29393	0.3222	0.3977	5008	,	,		20855	0.3085		0.168	False		,,,				2504	0.2965				p.K605R		Atlas-SNP	.											MIA3,NS,carcinoma,0,2	MIA3	167	2	2	Substitution - Missense(2)	prostate(1)|stomach(1)	c.A1814G						PASS	.	A	ARG/LYS	1151,2895		158,835,1030	89	93	92		1814	-1.2	0	1	dbSNP_101	92	1464,6890		135,1194,2848	yes	missense	MIA3	NM_198551.2	26	293,2029,3878	GG,GA,AA		17.5245,28.4478,21.0887	benign	605/1908	222802376	2615,9785	2023	4177	6200	SO:0001583	missense	375056	exon4			GGGCCAAACTGCA		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1814A>G	1.37:g.222802376A>G	ENSP00000340900:p.Lys605Arg	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	122	76	0.622951	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	593	0.2715201465201465	166	0.33739837398373984	121	0.3342541436464088	178	0.3111888111888112	128	0.16886543535620052	A	8.754	0.922005	0.17982	0.284478	0.175245	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.04603	3.59;3.59	4.32	-1.21	0.09524	.	.	.	.	.	T	0.00012	0.0000	L	0.53249	1.67	0.80722	P	0.0	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.42882	-0.9425	8	0.42905	T	0.14	.	4.7772	0.13185	0.4785:0.2848:0.2367:0.0	rs2936052;rs9441838;rs17163324	605;605	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	R	605	ENSP00000340900:K605R;ENSP00000340587:K605R	ENSP00000325973:K605R	K	+	2	0	MIA3	220868999	0.009000	0.17119	0.000000	0.03702	0.017000	0.09413	2.198000	0.42705	-0.458000	0.07023	0.254000	0.18369	AAA	A|0.758;G|0.242	0.242	strong		0.473	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		G	222802376	A	G	222802376	3	3	23	1	0	0	0	0	1	0	0	0	9565	14	1	2	1828	2	MIA3	1	222802376	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1747805	222802376	26448245	462	16918										
DISP1	84976	hgsc.bcm.edu	37	chr1	223116472	223116472	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaccaagagtgccatcccGaggctggccctgcagcaccc					rs2609383|rs71583926	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:223116472G>A	ENST00000284476.6	+	2	471	c.307G>A	c.(307-309)Gag>Aag	p.E103K	DISP1_ENST00000360254.2_Missense_Mutation_p.E103K|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	103			E -> K (in dbSNP:rs2609383).		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)		GTGCCATCCCGAGGCTGGCCC	0.522													G|||	1060	0.211661	0.1566	0.1715	5008	,	,		23581	0.2907		0.1352	False		,,,				2504	0.3119				p.E103K		Atlas-SNP	.											.	DISP1	145	.	0			c.G307A						PASS	.	G	LYS/GLU	738,3668	304.1+/-288.3	59,620,1524	139	120	126		307	4.7	1	1	dbSNP_100	126	1176,7424	239.7+/-270.7	86,1004,3210	yes	missense	DISP1	NM_032890.3	56	145,1624,4734	AA,AG,GG		13.6744,16.7499,14.7163	benign	103/1525	223116472	1914,11092	2203	4300	6503	SO:0001583	missense	84976	exon4			CATCCCGAGGCTG	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.307G>A	1.37:g.223116472G>A	ENSP00000284476:p.Glu103Lys	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	207	134	0.647343	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	399	0.18269230769230768	70	0.14227642276422764	64	0.17679558011049723	156	0.2727272727272727	109	0.1437994722955145	G	9.041	0.989600	0.18966	0.167499	0.136744	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91577	0.92;-2.87	5.62	4.68	0.58851	.	0.682047	0.14375	N	0.323515	T	0.00039	0.0001	L	0.51422	1.61	0.42105	P	0.00864699999999996	B	0.28880	0.226	B	0.17098	0.017	T	0.43114	-0.9411	9	0.07030	T	0.85	-28.9434	15.3736	0.74587	0.0:0.2638:0.7362:0.0	rs2609383;rs3814304;rs2609383	103	Q96F81	DISP1_HUMAN	K	103	ENSP00000355848:E103K;ENSP00000284476:E103K	ENSP00000284476:E103K	E	+	1	0	DISP1	221183095	0.968000	0.33430	0.997000	0.53966	0.973000	0.67179	1.811000	0.38942	2.652000	0.90054	0.650000	0.86243	GAG	AAT|0.500;GAG|0.500	.	alt		0.522	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		A	223116472	G	A	223116472	3	1	23	1	0	0	0	0	1	0	0	0	4539	1059	37	1	309	1	DISP1	1	223116472	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	314096	223116472	26134149	463	16919	363	2								
DISP1	84976	hgsc.bcm.edu	37	chr1	223116474	223116474	+	Missense_Mutation	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccaagagtgccatcccgaGgctggccctgcagcaccctc					rs71583926|rs2789975	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:223116474G>T	ENST00000284476.6	+	2	473	c.309G>T	c.(307-309)gaG>gaT	p.E103D	DISP1_ENST00000360254.2_Missense_Mutation_p.E103D|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	103			E -> K (in dbSNP:rs2609383).		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)		GCCATCCCGAGGCTGGCCCTG	0.522													G|||	1060	0.211661	0.1566	0.1715	5008	,	,		23499	0.2907		0.1352	False		,,,				2504	0.3119				p.E103D		Atlas-SNP	.											.	DISP1	145	.	0			c.G309T						PASS	.	G	ASP/GLU	738,3668	304.1+/-288.3	59,620,1524	140	120	127		309	4.5	1	1	dbSNP_100	127	1176,7424	239.7+/-270.7	86,1004,3210	yes	missense	DISP1	NM_032890.3	45	145,1624,4734	TT,TG,GG		13.6744,16.7499,14.7163	benign	103/1525	223116474	1914,11092	2203	4300	6503	SO:0001583	missense	84976	exon4			TCCCGAGGCTGGC	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.309G>T	1.37:g.223116474G>T	ENSP00000284476:p.Glu103Asp	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	203	132	0.650246	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	399	0.18269230769230768	70	0.14227642276422764	64	0.17679558011049723	156	0.2727272727272727	109	0.1437994722955145	G	11.48	1.650644	0.29336	0.167499	0.136744	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91843	0.85;-2.92	5.62	4.51	0.55191	.	0.682047	0.14375	N	0.323515	T	0.00073	0.0002	L	0.51422	1.61	0.43982	P	0.003322999999999965	B	0.23937	0.094	B	0.16722	0.016	T	0.27297	-1.0078	9	0.14252	T	0.57	-28.9434	15.411	0.74917	0.0781:0.0:0.9219:0.0	rs2789975;rs3814305	103	Q96F81	DISP1_HUMAN	D	103	ENSP00000355848:E103D;ENSP00000284476:E103D	ENSP00000284476:E103D	E	+	3	2	DISP1	221183097	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.341000	0.52151	2.652000	0.90054	0.650000	0.86243	GAG	G|0.844;T|0.156	0.156	strong		0.522	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		T	223116474	G	T	223116474	3	4	23	1	0	0	0	0	1	0	0	0	4539	991	35	4	311	4	DISP1	1	223116474	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2	223116474	26134147	464	16920	363	2								
SUSD4	55061	hgsc.bcm.edu	37	chr1	223465859	223465859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcaaacacagtctctttgTagcgcccttcagcttgaatc	6	13	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:223465859T>C	ENST00000343846.3	-	2	916	c.283A>G	c.(283-285)Aca>Gca	p.T95A	SUSD4_ENST00000366878.4_Missense_Mutation_p.T95A|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Missense_Mutation_p.T95A|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.T95A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	95	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGTCTCTTTGTAGCGCCCTTC	0.493																																					p.T95A		Atlas-SNP	.											SUSD4_ENST00000343846,NS,carcinoma,+2,2	SUSD4	82	2	0			c.A283G						scavenged	.						132	135	134					1																	223465859		2203	4300	6503	SO:0001583	missense	55061	exon3			TCTTTGTAGCGCC	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.283A>G	1.37:g.223465859T>C	ENSP00000344219:p.Thr95Ala	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	296	3	0.0101351	NM_017982	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	T	2.652	-0.281825	0.05642	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.62498	0.02;0.02;0.02	5.36	-3.62	0.04543	Complement control module (2);Sushi/SCR/CCP (3);	0.456706	0.18584	N	0.136948	T	0.25754	0.0627	N	0.02674	-0.535	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.09662	-1.0664	10	0.48119	T	0.1	-2.0298	2.4371	0.04485	0.5152:0.0772:0.2039:0.2037	.	95;95	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	A	95	ENSP00000344219:T95A;ENSP00000355843:T95A;ENSP00000339926:T95A	ENSP00000271787:T95A	T	-	1	0	SUSD4	221532482	0.012000	0.17670	0.015000	0.15790	0.262000	0.26303	0.061000	0.14366	-0.276000	0.09206	-0.411000	0.06167	ACA	.	.	none		0.493	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		C	223465859	T	C	223465859	3	2	23	1	0	0	0	0	1	0	0	0	15407	1638	57	2	1370	2	SUSD4	1	223465859	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	349385	223465859	25784762	465	16921										
C1orf65	164127	hgsc.bcm.edu	37	chr1	223567803	223567803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagagccctgagcagcgcgGcctgcggcgggacagccaga	16	15	0	3	rs10907376	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:223567803G>A	ENST00000366875.3	+	1	1089	c.986G>A	c.(985-987)gGc>gAc	p.G329D		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		329			G -> D (in dbSNP:rs10907376). {ECO:0000269|PubMed:15489334}.							breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAGCAGCGCGGCCTGCGGCGG	0.697													G|||	881	0.175919	0.1831	0.1916	5008	,	,		14025	0.1101		0.2734	False		,,,				2504	0.1227				p.G329D		Atlas-SNP	.											C1orf65,NS,carcinoma,0,4	C1orf65	71	4	0			c.G986A						PASS	.	G	ASP/GLY	834,3424		100,634,1395	11	10	11		986	-0.7	0	1	dbSNP_120	11	2191,6245		296,1599,2323	no	missense	C1orf65	NM_152610.2	94	396,2233,3718	AA,AG,GG		25.972,19.5867,23.8302	probably-damaging	329/624	223567803	3025,9669	2129	4218	6347	SO:0001583	missense	164127	exon1			AGCGCGGCCTGCG																												ENST00000366875.3:c.986G>A	1.37:g.223567803G>A	ENSP00000355840:p.Gly329Asp	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	147	58	0.394558	NM_152610	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	448	0.20512820512820512	88	0.17886178861788618	86	0.23756906077348067	72	0.1258741258741259	202	0.26649076517150394	G	5.552	0.286677	0.10513	0.195867	0.25972	ENSG00000178395	ENST00000366875	T	0.23147	1.92	4.71	-0.728	0.11162	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.29432	0.244	B	0.24848	0.056	T	0.42292	-0.9460	8	0.17369	T	0.5	.	1.5099	0.02494	0.1275:0.3469:0.209:0.3166	rs10907376;rs17481328;rs17852895;rs17858889;rs58442298;rs10907376	329	Q8N715	CA065_HUMAN	D	329	ENSP00000355840:G329D	ENSP00000355840:G329D	G	+	2	0	C1orf65	221634426	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.021000	0.12504	-0.055000	0.13244	0.650000	0.86243	GGC	G|0.814;A|0.186	0.186	strong		0.697	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			A	223567803	G	A	223567803	3	1	23	1	0	0	0	0	1	0	0	0	2055	1203	42	2	988	2	C1orf65	1	223567803	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	101944	223567803	25682818	466	16922										
CAPN2	824	hgsc.bcm.edu	37	chr1	223954080	223954080	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcttttaggccaagatatcAagtcagatggcttcagcatc	9	9	4	2	rs17599	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:223954080A>C	ENST00000295006.5	+	16	2011	c.1702A>C	c.(1702-1704)Aag>Cag	p.K568Q	CAPN2_ENST00000433674.2_Missense_Mutation_p.K490Q|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	568	Domain IV.		K -> Q (in dbSNP:rs17599). {ECO:0000269|Ref.4}.		blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.K568Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCAAGATATCAAGTCAGATGG	0.403													A|||	1038	0.207268	0.0983	0.2493	5008	,	,		22375	0.2698		0.2425	False		,,,				2504	0.2239				p.K568Q		Atlas-SNP	.											CAPN2,NS,carcinoma,0,1	CAPN2	69	1	1	Substitution - Missense(1)	stomach(1)	c.A1702C						scavenged	.	A	GLN/LYS,GLN/LYS	554,3852	249.3+/-256.8	38,478,1687	142	126	132		1468,1702	5.5	1	1	dbSNP_63	132	2104,6496	362.6+/-332.8	269,1566,2465	yes	missense,missense	CAPN2	NM_001146068.1,NM_001748.4	53,53	307,2044,4152	CC,CA,AA		24.4651,12.5738,20.4367	probably-damaging,probably-damaging	490/623,568/701	223954080	2658,10348	2203	4300	6503	SO:0001583	missense	824	exon16			GATATCAAGTCAG	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1702A>C	1.37:g.223954080A>C	ENSP00000295006:p.Lys568Gln	Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	193	75	0.388601	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	466	0.21336996336996336	51	0.10365853658536585	91	0.2513812154696133	132	0.23076923076923078	192	0.2532981530343008	A	16.47	3.132564	0.56828	0.125738	0.244651	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	T;T	0.32988	1.43;1.43	5.47	5.47	0.80525	EF-hand-like domain (1);	0.154834	0.56097	D	0.000021	T	0.00012	0.0000	M	0.77712	2.385	0.09310	P	0.999999146384	B;B;B	0.17465	0.007;0.022;0.007	B;B;B	0.27796	0.032;0.083;0.02	T	0.07424	-1.0773	9	0.59425	D	0.04	.	15.5473	0.76112	1.0:0.0:0.0:0.0	rs17599;rs1130849;rs3190187;rs3738372;rs11547592;rs17318843;rs17398495;rs52809008;rs59544343;rs3738372	490;151;568	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	Q	490;568;597	ENSP00000413158:K490Q;ENSP00000295006:K568Q	ENSP00000295006:K568Q	K	+	1	0	CAPN2	222020703	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.158000	0.77470	2.069000	0.61940	0.459000	0.35465	AAG	A|0.649;C|0.175;G|0.031;T|0.145	0.175	strong		0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		C	223954080	A	C	223954080	3	2	23	1	0	0	0	0	1	0	0	0	2627	131	5	5	1771	5	CAPN2	1	223954080	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	386277	223954080	25296541	467	16923										
CNIH4	29097	hgsc.bcm.edu	37	chr1	224553602	224553602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtaattccagaattgattGgccataccattgtcactgta	9	8	1	2	rs74546314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:224553602G>A	ENST00000465271.1	+	3	235	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.G54S|CNIH4_ENST00000366858.3_Missense_Mutation_p.G54S|CNIH4_ENST00000366857.5_Missense_Mutation_p.G54S	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	54					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		AGAATTGATTGGCCATACCAT	0.388													G|||	6	0.00119808	0.0	0.0	5008	,	,		20879	0.0		0.006	False		,,,				2504	0.0				p.G54S		Atlas-SNP	.											.	CNIH4	17	.	0			c.G160A						PASS	.	G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	465	346	386		160	5.2	1	1	dbSNP_131	386	39,8561	26.3+/-74.7	0,39,4261	yes	missense	CNIH4	NM_014184.2	56	0,40,6463	AA,AG,GG		0.4535,0.0227,0.3076	possibly-damaging	54/140	224553602	40,12966	2203	4300	6503	SO:0001583	missense	29097	exon3			TTGATTGGCCATA		CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"cornichon homolog 4 (Drosophila)"			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.160G>A	1.37:g.224553602G>A	ENSP00000420443:p.Gly54Ser	Somatic	425	0	0		WXS	Illumina HiSeq	Phase_I	546	184	0.336996	NM_014184	A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	ENST00000465271.1	37	CCDS1543.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	21.9	4.211635	0.79240	2.27E-4	0.004535	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.24	5.24	0.73138	.	0.099013	0.64402	D	0.000002	T	0.31327	0.0793	L	0.33137	0.985	0.80722	D	1	P	0.49090	0.919	P	0.45753	0.492	T	0.04053	-1.0981	10	0.20519	T	0.43	-21.4206	19.1891	0.93656	0.0:0.0:1.0:0.0	.	54	Q9P003	CNIH4_HUMAN	S	54	ENSP00000420443:G54S;ENSP00000355823:G54S;ENSP00000355822:G54S;ENSP00000355821:G54S	ENSP00000355821:G54S	G	+	1	0	CNIH4	222620225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.205000	0.95048	2.607000	0.88179	0.462000	0.41574	GGC	G|0.997;A|0.003	0.003	strong		0.388	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184		A	224553602	G	A	224553602	3	1	23	1	0	0	0	0	1	0	0	0	3605	1348	47	2	170	2	CNIH4	1	224553602	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	599522	224553602	24697019	468	16924										
WDR26	80232	hgsc.bcm.edu	37	chr1	224599230	224599230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacacttcattacaatgctCcgtaagtatctgctgcgtat	6	12	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:224599230C>T	ENST00000414423.2	-	7	1250	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.E206K	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	353						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTACAATGCTCCGTAAGTATC	0.348																																					p.E353K		Atlas-SNP	.											WDR26_ENST00000414423,colon,carcinoma,+2,2	WDR26	104	2	0			c.G1057A						scavenged	.						144	130	135					1																	224599230		2203	4300	6503	SO:0001583	missense	80232	exon7			AATGCTCCGTAAG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1057G>A	1.37:g.224599230C>T	ENSP00000408108:p.Glu353Lys	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	247	3	0.0121457	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	36	5.723118	0.96847	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.60797	0.16;0.16	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.51914	1.62	0.80722	D	1	B	0.31680	0.335	B	0.38880	0.284	T	0.57894	-0.7732	10	0.39692	T	0.17	.	19.3066	0.94165	0.0:1.0:0.0:0.0	.	337	Q9H7D7-2	.	K	353;206	ENSP00000408108:E353K;ENSP00000295024:E206K	ENSP00000295024:E206K	E	-	1	0	WDR26	222665853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.624000	0.88883	0.563000	0.77884	GAG	.	.	none		0.348	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224599230	C	T	224599230	3	4	23	1	0	0	0	0	1	0	0	0	17280	864	30	2	960	2	WDR26	1	224599230	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45628	224599230	24651391	469	16925										
EPHX1	2052	hgsc.bcm.edu	37	chr1	226019633	226019633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtggagattctcaacagaTaccctcacttcaagactaag	8	10	3	3	rs1051740	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:226019633T>C	ENST00000366837.4	+	3	533	c.337T>C	c.(337-339)Tac>Cac	p.Y113H	EPHX1_ENST00000272167.5_Missense_Mutation_p.Y113H|EPHX1_ENST00000467015.1_3'UTR	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	113			Y -> H (in allele EPHX1*3; 55% of wild type enzyme activity; dbSNP:rs1051740). {ECO:0000269|PubMed:11058921, ECO:0000269|PubMed:12173035, ECO:0000269|PubMed:7516776, ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCTCAACAGATACCCTCACTT	0.448													T|||	1569	0.313299	0.1407	0.3199	5008	,	,		22077	0.4821		0.3042	False		,,,				2504	0.3773				p.Y113H		Atlas-SNP	.											.	EPHX1	57	.	0			c.T337C	GRCh37	CM940369	EPHX1	M	rs1051740	PASS	.	T	HIS/TYR,HIS/TYR	776,3630	314.9+/-293.9	59,658,1486	109	98	101	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	337,337	5.6	0.9	1	dbSNP_86	101	2577,6023	419.2+/-353.0	395,1787,2118	yes	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	83,83	454,2445,3604	CC,CT,TT		29.9651,17.6123,25.7804	probably-damaging,probably-damaging	113/456,113/456	226019633	3353,9653	2203	4300	6503	SO:0001583	missense	2052	exon3			AACAGATACCCTC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.337T>C	1.37:g.226019633T>C	ENSP00000355802:p.Tyr113His	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	121	120	0.991736	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	690	0.3159340659340659	78	0.15853658536585366	121	0.3342541436464088	260	0.45454545454545453	231	0.30474934036939316	T	29.3	4.990224	0.93106	0.176123	0.299651	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	5.58	5.58	0.84498	Epoxide hydrolase, N-terminal (1);	0.064587	0.64402	D	0.000005	T	0.00012	0.0000	M	0.71920	2.185	0.09310	P	0.999999030378	D	0.71674	0.998	D	0.75484	0.986	T	0.50197	-0.8856	9	0.87932	D	0	5.918	15.7585	0.78058	0.0:0.0:0.0:1.0	rs1051740;rs1800444;rs2259405;rs3192120;rs16845366;rs52794507;rs59266540;rs1051740	113	P07099	HYEP_HUMAN	H	113	ENSP00000398491:Y113H;ENSP00000272167:Y113H;ENSP00000408469:Y113H;ENSP00000355802:Y113H	ENSP00000272167:Y113H	Y	+	1	0	EPHX1	224086256	1.000000	0.71417	0.932000	0.37286	0.991000	0.79684	7.809000	0.86057	2.136000	0.66102	0.454000	0.30748	TAC	C|0.290;N|0.000	0.290	strong		0.448	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		C	226019633	T	C	226019633	3	2	23	1	0	0	0	0	1	0	0	0	5179	1406	49	2	343	2	EPHX1	1	226019633	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1420403	226019633	23230988	470	16926										
TMEM63A	9725	hgsc.bcm.edu	37	chr1	226055595	226055595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagggtcattacccagcaaGtcccctgagaggttgacagg	14	10	1	2	rs2292564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:226055595G>A	ENST00000366835.3	-	7	777	c.507C>T	c.(505-507)gaC>gaT	p.D169D	TMEM63A_ENST00000537914.1_5'Flank|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	169					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.D169D(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TACCCAGCAAGTCCCCTGAGA	0.547													G|||	2154	0.430112	0.5189	0.3127	5008	,	,		19546	0.5188		0.2624	False		,,,				2504	0.4744				p.D169D		Atlas-SNP	.											TMEM63A,NS,carcinoma,0,1	TMEM63A	75	1	1	Substitution - coding silent(1)	stomach(1)	c.C507T						PASS	.	G		1936,2470	549.9+/-377.9	427,1082,694	136	106	116		507	4.8	0.6	1	dbSNP_100	116	2486,6114	408.4+/-349.5	375,1736,2189	no	coding-synonymous	TMEM63A	NM_014698.2		802,2818,2883	AA,AG,GG		28.907,43.9401,33.9997		169/808	226055595	4422,8584	2203	4300	6503	SO:0001819	synonymous_variant	9725	exon7			CAGCAAGTCCCCT		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.507C>T	1.37:g.226055595G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	94	93	0.989362	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	CCDS31042.1																																																																																			G|0.640;A|0.360	0.360	strong		0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226055595	G	A	226055595	2	1	23	1	0	0	0	0	0	0	0	1	16187	1020	36	2		2	TMEM63A	1	226055595	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	35962	226055595	23195026	471	16927										
LIN9	286826	hgsc.bcm.edu	37	chr1	226474035	226474035	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaaaaacattatttttaccTccgtggttttcccataagcc	4	11	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:226474035T>C	ENST00000328205.5	-	6	1116	c.571A>G	c.(571-573)Aga>Gga	p.R191G	LIN9_ENST00000481685.1_Splice_Site_p.R156G|LIN9_ENST00000366801.1_Splice_Site_p.R140G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	175	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TATTTTTACCTCCGTGGTTTT	0.348																																					p.R191G	Ovarian(197;1696 2974 11248 14117)	Atlas-SNP	.											.	LIN9	57	.	0			c.A571G						PASS	.						50	55	53					1																	226474035		2202	4298	6500	SO:0001630	splice_region_variant	286826	exon6			TTTACCTCCGTGG	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.572+1A>G	1.37:g.226474035T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	99	5	0.050505	NM_173083	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208799	0.58343	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.85	5.85	0.93711	.	0.042455	0.85682	D	0.000000	D	0.86033	0.5836	M	0.93062	3.375	0.80722	D	1	D;P;D	0.62365	0.989;0.884;0.991	D;P;D	0.78314	0.916;0.891;0.991	D	0.89383	0.3683	9	0.87932	D	0	.	16.2265	0.82298	0.0:0.0:0.0:1.0	.	156;175;325	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	G	151;191;246;140;156;325	.	ENSP00000329102:R191G	R	-	1	2	LIN9	224540658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.751000	0.62169	2.233000	0.73108	0.533000	0.62120	AGA	.	.	none		0.348	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	Missense_Mutation	C	226474035	T	C	226474035	5	2	23	1	0	0	0	0	0	0	1	0	8813	1565	54	3	1145	3	LIN9	1	226474035	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	418440	226474035	22776586	472	16928										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227216775	227216775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcacctttccagaagttaCggtttgacaccctttagttt	8	11	0	2	rs1929860	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:227216775C>T	ENST00000366769.3	-	29	5201	c.3910G>A	c.(3910-3912)Gta>Ata	p.V1304I	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.V1223I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.V1284I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.V1276I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.V1304I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.V1339I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.V1317I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCAGAAGTTACGGTTTGACAC	0.473													T|||	1403	0.280152	0.1884	0.33	5008	,	,		18097	0.4028		0.332	False		,,,				2504	0.1892				p.V1304I		Atlas-SNP	.											.	CDC42BPA	528	.	0			c.G3910A						PASS	.	T	ILE/VAL,ILE/VAL	962,3444	733.3+/-410.5	109,744,1350	69	56	60		3910,3667	4.2	1	1	dbSNP_92	60	2711,5889	681.9+/-403.8	406,1899,1995	yes	missense,missense	CDC42BPA	NM_003607.3,NM_014826.4	29,29	515,2643,3345	TT,TC,CC		31.5233,21.8339,28.2408	benign,benign	1304/1720,1223/1639	227216775	3673,9333	2203	4300	6503	SO:0001583	missense	8476	exon29			AAGTTACGGTTTG	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3910G>A	1.37:g.227216775C>T	ENSP00000355731:p.Val1304Ile	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	56	33	0.589286	NM_003607		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	727|727	0.33287545787545786|0.33287545787545786	105|105	0.21341463414634146|0.21341463414634146	113|113	0.31215469613259667|0.31215469613259667	245|245	0.42832167832167833|0.42832167832167833	264|264	0.3482849604221636|0.3482849604221636	T|T	1.392|1.392	-0.580517|-0.580517	0.03854|0.03854	0.218339|0.218339	0.315233|0.315233	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.04551	.|3.6;3.6;3.6;3.6;3.6;3.6;3.6	5.32|5.32	4.18|4.18	0.49190|0.49190	.|.	.|0.138886	.|0.64402	.|N	.|0.000007	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01705|0.01705	-0.755|-0.755	0.54753|0.54753	P|P	1.799999999996249E-5|1.799999999996249E-5	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B	.|0.09377	.|0.001;0.001;0.001;0.004;0.001;0.001;0.0;0.004	T|T	0.45323|0.45323	-0.9269|-0.9269	4|9	.|0.05351	.|T	.|0.99	.|.	8.5234|8.5234	0.33291|0.33291	0.0:0.0681:0.1307:0.8012|0.0:0.0681:0.1307:0.8012	rs1929860;rs3738731;rs57541261;rs1929860|rs1929860;rs3738731;rs57541261;rs1929860	.|1284;1276;619;201;1223;1304;1339;506	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	H|I	506;632;201;528|1304;1223;1304;1339;1276;619;1284;1317	.|ENSP00000355731:V1304I;ENSP00000355729:V1223I;ENSP00000335341:V1304I;ENSP00000355728:V1339I;ENSP00000355726:V1276I;ENSP00000443275:V1284I;ENSP00000355727:V1317I	.|ENSP00000335341:V1304I	R|V	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225283398|225283398	0.269000|0.269000	0.24143|0.24143	0.994000|0.994000	0.49952|0.49952	0.965000|0.965000	0.64279|0.64279	0.457000|0.457000	0.21875|0.21875	0.411000|0.411000	0.25702|0.25702	-0.352000|-0.352000	0.07741|0.07741	CGT|GTA	T|0.301;C|0.699	0.301	strong		0.473	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		T	227216775	C	T	227216775	3	4	23	1	0	0	0	0	1	0	0	0	3072	536	19	1	1281	1	CDC42BPA	1	227216775	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	742740	227216775	22033846	473	16929										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227504794	227504794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatgagtatatccagtaaTgtctccacactgaagcactg	8	10	1	3	rs11804613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:227504794T>C	ENST00000366769.3	-	1	1381	c.90A>G	c.(88-90)acA>acG	p.T30T	CDC42BPA_ENST00000366767.3_Silent_p.T30T|CDC42BPA_ENST00000535525.1_Silent_p.T30T|CDC42BPA_ENST00000366764.2_Silent_p.T30T|CDC42BPA_ENST00000334218.5_Silent_p.T30T|CDC42BPA_ENST00000366766.2_Silent_p.T30T|CDC42BPA_ENST00000366765.3_Silent_p.T30T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATCCAGTAATGTCTCCACAC	0.438													N|||	1358	0.271166	0.3411	0.2954	5008	,	,		16521	0.3363		0.1521	False		,,,				2504	0.2147				p.T30T		Atlas-SNP	.											.	CDC42BPA	528	.	0			c.A90G						PASS	.	C	,	1318,3088	696.9+/-406.1	191,936,1076	135	121	126		90,90	-9.6	0	1	dbSNP_120	126	1229,7371	762.3+/-407.6	80,1069,3151	no	coding-synonymous,coding-synonymous	CDC42BPA	NM_003607.3,NM_014826.4	,	271,2005,4227	CC,CT,TT		14.2907,29.9138,19.5833	,	30/1720,30/1639	227504794	2547,10459	2203	4300	6503	SO:0001819	synonymous_variant	8476	exon1			CAGTAATGTCTCC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.90A>G	1.37:g.227504794T>C		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	324	202	0.623457	NM_003607		Silent	SNP	ENST00000366769.3	37	CCDS1558.1																																																																																			T|0.768;C|0.232	0.232	strong		0.438	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		C	227504794	T	C	227504794	2	2	23	1	0	0	0	0	0	0	0	1	3072	1451	51	2		2	CDC42BPA	1	227504794	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	288019	227504794	21745827	474	16930										
C1orf35	79169	hgsc.bcm.edu	37	chr1	228290223	228290223	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtccacgcccttctcctcGgggtcgcctccttcccgctt	9	20	1	0	rs377443672	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:228290223G>C	ENST00000272139.4	-	4	564	c.330C>G	c.(328-330)ccC>ccG	p.P110P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	110							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTTCTCCTCGGGGTCGCCTC	0.721													G|||	5	0.000998403	0.0008	0.0014	5008	,	,		9295	0.0		0.003	False		,,,				2504	0.0				p.P110P		Atlas-SNP	.											.	C1orf35	17	.	0			c.C330G						PASS	.	G		0,4340		0,0,2170	10	13	12		330	-8.1	0.6	1		12	9,8471		0,9,4231	no	coding-synonymous	C1orf35	NM_024319.2		0,9,6401	CC,CG,GG		0.1061,0.0,0.0702		110/264	228290223	9,12811	2170	4240	6410	SO:0001819	synonymous_variant	79169	exon4			CTCCTCGGGGTCG	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.330C>G	1.37:g.228290223G>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	175	66	0.377143	NM_024319	Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Silent	SNP	ENST00000272139.4	37	CCDS1566.1																																																																																			.	.	none		0.721	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		C	228290223	G	C	228290223	2	2	23	1	0	0	0	0	0	0	0	1	2038	1103	39	4		4	C1orf35	1	228290223	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	785429	228290223	20960398	475	16931										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228479642	228479642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctgaggaatgaagaggcCgtggaaggggccacagccat	17	8	1	3	rs371392180	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:228479642C>T	ENST00000422127.1	+	39	10427	c.10383C>T	c.(10381-10383)gcC>gcT	p.A3461A	OBSCN_ENST00000366707.4_Silent_p.A580A|OBSCN_ENST00000359599.6_Silent_p.A2308A|OBSCN_ENST00000570156.2_Silent_p.A3890A|OBSCN_ENST00000366709.4_Silent_p.A580A|OBSCN_ENST00000284548.11_Silent_p.A3461A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3461	Ig-like 35.				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)				ATGAAGAGGCCGTGGAAGGGG	0.582													C|||	6	0.00119808	0.0	0.0	5008	,	,		18976	0.006		0.0	False		,,,				2504	0.0				p.A3890A		Atlas-SNP	.											OBSCN_ENST00000570156,NS,carcinoma,+1,4	OBSCN	2142	4	0			c.C11670T						scavenged	.	C	,	1,3869		0,1,1934	47	46	46		10383,10383	0.9	0	1		46	0,8270		0,0,4135	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6069	TT,TC,CC		0.0,0.0258,0.0082	,	3461/7969,3461/6621	228479642	1,12139	1935	4135	6070	SO:0001819	synonymous_variant	84033	exon44			AGAGGCCGTGGAA	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.10383C>T	1.37:g.228479642C>T		Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	381	5	0.0131234	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.	.	none		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228479642	C	T	228479642	2	4	23	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228479642	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	189419	228479642	20770979	476	16932										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228520973	228520973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtggaggagctgagagacCtccaggtggcccctggcaca	16	11	0	2	rs369909	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:228520973C>G	ENST00000422127.1	+	58	15849	c.15805C>G	c.(15805-15807)Ctc>Gtc	p.L5269V	OBSCN_ENST00000366707.4_Missense_Mutation_p.L2903V|OBSCN_ENST00000570156.2_Missense_Mutation_p.L6226V|OBSCN_ENST00000366709.4_Missense_Mutation_p.L2388V|OBSCN_ENST00000284548.11_Missense_Mutation_p.L5269V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5269	Ig-like 50.		L -> V (in dbSNP:rs369909).		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)				GCTGAGAGACCTCCAGGTGGC	0.627													C|||	1678	0.335064	0.4183	0.3847	5008	,	,		17947	0.249		0.4205	False		,,,				2504	0.1881				p.L6226V		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C18676G						PASS	.	C	VAL/LEU,VAL/LEU	1383,2607		266,851,878	12	15	14		15805,15805	2	1	1	dbSNP_80	14	3469,4833		793,1883,1475	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	32,32	1059,2734,2353	GG,GC,CC		41.7851,34.6617,39.4728	possibly-damaging,possibly-damaging	5269/7969,5269/6621	228520973	4852,7440	1995	4151	6146	SO:0001583	missense	84033	exon69			AGAGACCTCCAGG	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.15805C>G	1.37:g.228520973C>G	ENSP00000409493:p.Leu5269Val	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	133	46	0.345865	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	37	CCDS58065.1	780	0.35714285714285715	196	0.3983739837398374	133	0.3674033149171271	135	0.23601398601398602	316	0.41688654353562005	C	21.3	4.126247	0.77549	0.346617	0.417851	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.29	2.01	0.26516	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.253964	0.32028	N	0.006689	T	0.00012	0.0000	N	0.16201	0.385	0.39043	P	0.03983800000000004	B;B	0.20550	0.046;0.037	B;B	0.22152	0.038;0.022	T	0.36962	-0.9726	9	0.07482	T	0.82	.	7.164	0.25679	0.3498:0.4202:0.23:0.0	rs369909;rs1697610;rs3795806;rs57264919;rs369909	5269;5269	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	5269;5269;2903;2388	ENSP00000284548:L5269V;ENSP00000409493:L5269V;ENSP00000355668:L2903V;ENSP00000355670:L2388V	ENSP00000284548:L5269V	L	+	1	0	OBSCN	226587596	1.000000	0.71417	0.982000	0.44146	0.933000	0.57130	1.457000	0.35212	0.721000	0.32231	0.561000	0.74099	CTC	C|0.669;G|0.331	0.331	strong		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228520973	C	G	228520973	3	3	23	1	0	0	0	0	1	0	0	0	10812	681	24	4	16031	4	OBSCN	1	228520973	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41331	228520973	20729648	477	16933										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228526665	228526665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcccccacgtgcccatagcTgtggccggccagaaggcagt	13	15	0	1	rs505629	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:228526665T>C	ENST00000422127.1	+	69	17240	c.17196T>C	c.(17194-17196)gcT>gcC	p.A5732A	OBSCN_ENST00000366707.4_Silent_p.A3366A|OBSCN_ENST00000570156.2_Silent_p.A6689A|OBSCN_ENST00000366709.4_Silent_p.A2851A|OBSCN_ENST00000284548.11_Silent_p.A5732A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5732	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)				TGCCCATAGCTGTGGCCGGCC	0.642													C|||	2476	0.494409	0.5522	0.4294	5008	,	,		19542	0.5665		0.5209	False		,,,				2504	0.3609				p.A6689A		Atlas-SNP	.											.	OBSCN	2142	.	0			c.T20067C						PASS	.	C	,	2109,1709		638,833,438	12	16	14		17196,17196	-10.4	0	1	dbSNP_83	14	4313,3431		1295,1723,854	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	1933,2556,1292	CC,CT,TT		44.3053,44.7617,44.456	,	5732/7969,5732/6621	228526665	6422,5140	1909	3872	5781	SO:0001819	synonymous_variant	84033	exon80			CATAGCTGTGGCC	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.17196T>C	1.37:g.228526665T>C		Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	340	127	0.373529	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	1131	0.5178571428571429	265	0.5386178861788617	152	0.4198895027624309	324	0.5664335664335665	390	0.5145118733509235	C	7.567	0.665825	0.14710	0.552383	0.556947	ENSG00000154358	ENST00000441106	.	.	.	5.19	-10.4	0.00318	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.32467	P	0.543358	.	.	.	.	.	.	T	0.07966	-1.0745	3	.	.	.	.	7.4233	0.27083	0.1602:0.5481:0.1388:0.1528	rs505629;rs1684872;rs36173159	.	.	.	R	348	.	.	C	+	1	0	OBSCN	226593288	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.780000	0.00368	-3.977000	0.00085	-2.292000	0.00266	TGT	T|0.479;C|0.521	0.521	strong		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228526665	T	C	228526665	2	2	23	1	0	0	0	0	0	0	0	1	10812	1567	55	3		3	OBSCN	1	228526665	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5692	228526665	20723956	478	16934										
NUP133	55746	hgsc.bcm.edu	37	chr1	229622162	229622162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatgctaaagacccttccaAgtcttctgccaatatagaca	6	11	2	3	rs1065675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:229622162A>G	ENST00000261396.3	-	11	1547	c.1456T>C	c.(1456-1458)Ttg>Ctg	p.L486L	NUP133_ENST00000537506.1_Silent_p.L470L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	486					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L486L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACCCTTCCAAGTCTTCTGCC	0.378													G|||	1521	0.303714	0.5809	0.3285	5008	,	,		19446	0.1607		0.2097	False		,,,				2504	0.1554				p.L486L		Atlas-SNP	.											NUP133,NS,carcinoma,0,1	NUP133	111	1	1	Substitution - coding silent(1)	stomach(1)	c.T1456C						PASS	.	G		2316,2090	569.8+/-382.7	600,1116,487	105	110	108		1456	-1.6	0.1	1	dbSNP_86	108	1864,6736	729.8+/-406.7	201,1462,2637	no	coding-synonymous	NUP133	NM_018230.2		801,2578,3124	GG,GA,AA		21.6744,47.4353,32.139		486/1157	229622162	4180,8826	2203	4300	6503	SO:0001819	synonymous_variant	55746	exon11			CTTCCAAGTCTTC		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1456T>C	1.37:g.229622162A>G		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	173	54	0.312139	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																			A|0.690;G|0.310	0.310	strong		0.378	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		G	229622162	A	G	229622162	2	3	23	1	0	0	0	0	0	0	0	1	10754	69	3	3		3	NUP133	1	229622162	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1095497	229622162	19628459	479	16935										
NUP133	55746	hgsc.bcm.edu	37	chr1	229623338	229623338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagtttgggaccgtcaacTgacacaaaatcaggtcttca	8	9	4	1	rs1065674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:229623338T>C	ENST00000261396.3	-	10	1308	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R	NUP133_ENST00000537506.1_Missense_Mutation_p.Q390R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	406			Q -> R (in dbSNP:rs1065674).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACCGTCAACTGACACAAAAT	0.338													C|||	1519	0.303315	0.5802	0.3271	5008	,	,		16738	0.1607		0.2097	False		,,,				2504	0.1554				p.Q406R		Atlas-SNP	.											.	NUP133	111	.	0			c.A1217G						PASS	.	C	ARG/GLN	2321,2085	571.2+/-383.0	600,1121,482	83	85	84		1217	2.2	0.4	1	dbSNP_86	84	1863,6737	729.6+/-406.7	201,1461,2638	yes	missense	NUP133	NM_018230.2	43	801,2582,3120	CC,CT,TT		21.6628,47.3218,32.1698	benign	406/1157	229623338	4184,8822	2203	4300	6503	SO:0001583	missense	55746	exon10			GTCAACTGACACA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1217A>G	1.37:g.229623338T>C	ENSP00000261396:p.Gln406Arg	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	82	30	0.365854	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	612	0.2802197802197802	275	0.5589430894308943	100	0.27624309392265195	80	0.13986013986013987	157	0.20712401055408972	C	0.017	-1.505721	0.00992	0.526782	0.216628	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.35605	1.3;1.3;1.3	5.07	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.167226	0.56097	N	0.000039	T	0.00012	0.0000	N	0.01015	-1.05	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	9	0.02654	T	1	-5.5753	9.3235	0.37980	0.0:0.583:0.0:0.417	rs1065674;rs17355666;rs60689296;rs1065674	406	Q8WUM0	NU133_HUMAN	R	406;406;406;390	ENSP00000261396:Q406R;ENSP00000355640:Q406R;ENSP00000443496:Q390R	ENSP00000261396:Q406R	Q	-	2	0	NUP133	227689961	0.910000	0.30920	0.355000	0.25773	0.580000	0.36256	1.748000	0.38308	0.029000	0.15352	-1.952000	0.00485	CAG	T|0.691;C|0.309	0.309	strong		0.338	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		C	229623338	T	C	229623338	3	2	23	1	0	0	0	0	1	0	0	0	10754	1580	55	3	2321	3	NUP133	1	229623338	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1176	229623338	19627283	480	16936										
NUP133	55746	hgsc.bcm.edu	37	chr1	229631734	229631734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctaattcccatttactgaTgtttgaactcgtcaggctat	6	9	2	2	rs11805194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:229631734T>C	ENST00000261396.3	-	7	971	c.880A>G	c.(880-882)Atc>Gtc	p.I294V	NUP133_ENST00000537506.1_Missense_Mutation_p.I278V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	294			I -> V (in dbSNP:rs11805194).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I294V(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CATTTACTGATGTTTGAACTC	0.368													T|||	1062	0.212061	0.2617	0.3012	5008	,	,		18607	0.1577		0.2068	False		,,,				2504	0.1431				p.I294V		Atlas-SNP	.											NUP133,NS,carcinoma,0,1	NUP133	111	1	1	Substitution - Missense(1)	stomach(1)	c.A880G						scavenged	.	T	VAL/ILE	1097,3309	392.1+/-328.4	134,829,1240	104	100	101		880	1.7	1	1	dbSNP_120	101	1818,6782	324.6+/-316.5	191,1436,2673	yes	missense	NUP133	NM_018230.2	29	325,2265,3913	CC,CT,TT		21.1395,24.8979,22.4127	benign	294/1157	229631734	2915,10091	2203	4300	6503	SO:0001583	missense	55746	exon7			TACTGATGTTTGA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.880A>G	1.37:g.229631734T>C	ENSP00000261396:p.Ile294Val	Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	207	71	0.342995	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	451	0.2065018315018315	122	0.24796747967479674	93	0.2569060773480663	80	0.13986013986013987	156	0.20580474934036938	T	12.64	1.999786	0.35320	0.248979	0.211395	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.60424	0.19;0.19;0.19	5.57	1.67	0.24075	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.164275	0.52532	D	0.000067	T	0.00012	0.0000	L	0.41236	1.265	0.31397	P	0.677155	B	0.06786	0.001	B	0.06405	0.002	T	0.11155	-1.0599	9	0.30854	T	0.27	-22.3481	3.4333	0.07436	0.0942:0.1504:0.1651:0.5903	rs11805194;rs17756650;rs52814082;rs61334161;rs11805194	294	Q8WUM0	NU133_HUMAN	V	294;294;294;278	ENSP00000261396:I294V;ENSP00000355640:I294V;ENSP00000443496:I278V	ENSP00000261396:I294V	I	-	1	0	NUP133	227698357	0.960000	0.32886	0.982000	0.44146	0.917000	0.54804	0.306000	0.19279	0.408000	0.25621	0.528000	0.53228	ATC	C|0.213;N|0.000	0.213	strong		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		C	229631734	T	C	229631734	3	2	23	1	0	0	0	0	1	0	0	0	10754	1464	51	2	2670	2	NUP133	1	229631734	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8396	229631734	19618887	481	16937										
GNPAT	8443	hgsc.bcm.edu	37	chr1	231408091	231408091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctttcgcttcctacgtgAtgtttttgcagatgagttca	9	8	1	3	rs11558492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:231408091A>G	ENST00000366647.4	+	11	1725	c.1556A>G	c.(1555-1557)gAt>gGt	p.D519G	GNPAT_ENST00000366646.3_Missense_Mutation_p.D458G	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	519			D -> G (in RCDP2; 70% reduction in activity; dbSNP:rs11558492). {ECO:0000269|PubMed:11152660}.		cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTACGTGATGTTTTTGCA	0.383													A|||	679	0.135583	0.0688	0.1729	5008	,	,		20615	0.1002		0.2127	False		,,,				2504	0.1564				p.D519G		Atlas-SNP	.											.	GNPAT	73	.	0			c.A1556G						PASS	.	A	GLY/ASP	404,4002	199.8+/-223.2	16,372,1815	288	271	277		1556	-0.3	0	1	dbSNP_120	277	1770,6830	320.4+/-314.6	170,1430,2700	yes	missense	GNPAT	NM_014236.3	94	186,1802,4515	GG,GA,AA		20.5814,9.1693,16.7154	benign	519/681	231408091	2174,10832	2203	4300	6503	SO:0001583	missense	8443	exon11			TACGTGATGTTTT	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1556A>G	1.37:g.231408091A>G	ENSP00000355607:p.Asp519Gly	Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	289	288	0.99654	NM_014236	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	313	0.1433150183150183	37	0.07520325203252033	71	0.19613259668508287	59	0.10314685314685315	146	0.19261213720316622	A	11.88	1.770311	0.31320	0.091693	0.205814	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.64618	-0.11;-0.1;-0.11	4.71	-0.263	0.12954	.	0.487719	0.24583	N	0.037281	T	0.00039	0.0001	L	0.34521	1.04	0.44871	P	0.0021200000000000108	B;B	0.22800	0.075;0.019	B;B	0.21360	0.034;0.028	T	0.06570	-1.0819	9	0.56958	D	0.05	.	9.158	0.37005	0.6427:0.0:0.3573:0.0	rs11558492;rs17387913;rs52834016;rs59486675;rs11558492	458;519	B4DNM9;O15228	.;GNPAT_HUMAN	G	519;458;509	ENSP00000355607:D519G;ENSP00000355606:D458G;ENSP00000411640:D509G	ENSP00000355606:D458G	D	+	2	0	GNPAT	229474714	0.814000	0.29104	0.006000	0.13384	0.976000	0.68499	1.947000	0.40293	-0.134000	0.11516	0.460000	0.39030	GAT	G|0.155;N|0.000	0.155	strong		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			G	231408091	A	G	231408091	3	3	23	1	0	0	0	0	1	0	0	0	6541	333	12	2	1598	2	GNPAT	1	231408091	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1776357	231408091	17842530	482	16938										
TSNAX	7257	hgsc.bcm.edu	37	chr1	231665038	231665038	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaggaagcatgacaatttCccacataaccaaagaagaga	7	8	0	3	rs138421350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:231665038C>T	ENST00000366639.4	+	2	212	c.54C>T	c.(52-54)ttC>ttT	p.F18F	TSNAX_ENST00000602825.1_3'UTR|RP11-295G20.2_ENST00000450783.1_RNA|RP11-295G20.2_ENST00000416221.1_RNA|RP11-295G20.2_ENST00000440665.1_RNA|TSNAX-DISC1_ENST00000602962.1_Silent_p.F18F|RP11-295G20.2_ENST00000454631.1_RNA|RP11-295G20.2_ENST00000425412.1_RNA	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ATGACAATTTCCCACATAACC	0.398													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.002				p.F18F		Atlas-SNP	.											.	TSNAX	14	.	0			c.C54T						PASS	.	C		2,4404	4.2+/-10.8	0,2,2201	174	158	163		54	2.5	1	1	dbSNP_134	163	8,8592	7.1+/-27.0	0,8,4292	no	coding-synonymous	TSNAX	NM_005999.2		0,10,6493	TT,TC,CC		0.093,0.0454,0.0769		18/291	231665038	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	7257	exon2			CAATTTCCCACAT	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.54C>T	1.37:g.231665038C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	190	67	0.352632	NM_005999	B1APC6	Silent	SNP	ENST00000366639.4	37	CCDS1596.1																																																																																			C|0.999;T|0.001	0.001	strong		0.398	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		T	231665038	C	T	231665038	2	4	23	1	0	0	0	0	0	0	0	1	16628	854	30	2		2	TSNAX	1	231665038	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	256947	231665038	17585583	483	16939										
DISC1	27185	hgsc.bcm.edu	37	chr1	231902975	231902975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcttgcacgtgtccatcaCgagacgagactggcttcttc	10	13	2	2	rs28930675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:231902975C>T	ENST00000602281.1	+	5	1411	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	DISC1_ENST00000366633.3_Missense_Mutation_p.T453M|DISC1_ENST00000535983.1_Missense_Mutation_p.T453M|DISC1_ENST00000439617.2_Missense_Mutation_p.T453M|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.T453M|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.T103M|DISC1_ENST00000537876.1_Missense_Mutation_p.T453M|DISC1_ENST00000539444.1_Missense_Mutation_p.T453M	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	453	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GTGTCCATCACGAGACGAGAC	0.507													C|||	7	0.00139776	0.0008	0.0	5008	,	,		18597	0.0		0.001	False		,,,				2504	0.0051				p.T485M		Atlas-SNP	.											.	DISC1	207	.	0			c.C1454T						PASS	.	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	111	98	102		1358,1358,1454,1358,1358,,1358,1358,1358,1358,1358,1358,1358,1358,308,1358	3.7	0.2	1	dbSNP_125	102	25,8575	18.5+/-59.3	0,25,4275	yes	missense,missense,missense,missense,missense,intron,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DISC1	NM_001012957.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164556.1,NM_018662.2	81,81,81,81,81,,81,81,81,81,81,81,81,81,81,81	0,26,6477	TT,TC,CC		0.2907,0.0227,0.1999	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	453/833,453/679,485/887,453/804,453/756,,453/696,453/682,453/663,453/580,453/560,453/560,453/552,453/548,103/202,453/855	231902975	26,12980	2203	4300	6503	SO:0001583	missense	27185	exon6			CCATCACGAGACG	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1358C>T	1.37:g.231902975C>T	ENSP00000473425:p.Thr453Met	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	124	32	0.258065	NM_001164537	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	12.61	1.989191	0.35131	2.27E-4	0.002907	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.13901	2.92;2.73;2.72;2.57;2.9;2.57;2.57;2.55	3.74	3.74	0.42951	.	0.423266	0.24527	N	0.037752	T	0.23572	0.0570	M	0.62723	1.935	0.20638	N	0.999871	D;D;D;D;D;D;D;P;D;D;P;D;D;D;D;D;D;P	0.64830	0.992;0.992;0.988;0.983;0.989;0.966;0.979;0.941;0.994;0.988;0.941;0.994;0.988;0.979;0.988;0.979;0.988;0.941	P;P;P;P;P;B;B;B;P;P;B;P;P;B;P;B;P;B	0.54346	0.731;0.749;0.504;0.516;0.512;0.367;0.434;0.407;0.663;0.663;0.236;0.663;0.59;0.434;0.59;0.434;0.663;0.236	T	0.03413	-1.1039	10	0.59425	D	0.04	-3.9113	9.0698	0.36486	0.0:0.8923:0.0:0.1077	rs28930675	485;485;453;453;453;453;453;103;453;453;453;453;453;453;453;453;453;453	C4P096;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	M	453;453;453;485;453;453;453;453;453;453	ENSP00000403888:T453M;ENSP00000355596:T453M;ENSP00000443996:T453M;ENSP00000440909:T453M;ENSP00000355593:T453M;ENSP00000440953:T453M;ENSP00000295051:T453M;ENSP00000441193:T453M	ENSP00000295051:T453M	T	+	2	0	DISC1	229969598	0.470000	0.25854	0.174000	0.22961	0.391000	0.30476	1.717000	0.37991	2.063000	0.61619	0.655000	0.94253	ACG	C|0.998;T|0.002	0.002	strong		0.507	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		T	231902975	C	T	231902975	3	4	23	1	0	0	0	0	1	0	0	0	4538	536	19	1	1739	1	DISC1	1	231902975	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	237937	231902975	17347646	484	16940										
DISC1	27185	hgsc.bcm.edu	37	chr1	232144598	232144598	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtcgattgcttatccagAgcctacagctccaggaagcc	9	13	0	1	rs821616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:232144598A>T	ENST00000439617.2	+	11	2163	c.2110A>T	c.(2110-2112)Agc>Tgc	p.S704C	DISC1_ENST00000535983.1_Missense_Mutation_p.R683S|DISC1_ENST00000366637.3_Missense_Mutation_p.S36C|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	704	Interaction with ATF4 and ATF5.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		S -> C (in dbSNP:rs821616). {ECO:0000269|PubMed:10814723, ECO:0000269|PubMed:15939883}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTTATCCAGAGCCTACAGCT	0.522													A|||	1253	0.2502	0.3782	0.1369	5008	,	,		17579	0.1052		0.2873	False		,,,				2504	0.2689				p.S736C		Atlas-SNP	.											.	DISC1	207	.	0			c.A2206T	GRCh37	CM051907	DISC1	M	rs821616	PASS	.	A	CYS/SER,CYS/SER,CYS/SER,CYS/SER,SER/ARG,,CYS/SER	1286,2646		215,856,895	72	73	73		2110,2206,2110,1744,2049,,2110	2.4	0.2	1	dbSNP_86	73	2374,5932		316,1742,2095	yes	missense,missense,missense,missense,missense,utr-3,missense	DISC1	NM_001012957.1,NM_001164537.1,NM_001164538.1,NM_001164540.1,NM_001164541.1,NM_001164547.1,NM_018662.2	112,112,112,112,110,,112	531,2598,2990	TT,TA,AA		28.5817,32.706,29.9068	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	704/833,736/887,704/804,582/733,683/696,,704/855	232144598	3660,8578	1966	4153	6119	SO:0001583	missense	27185	exon12			ATCCAGAGCCTAC	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2110A>T	1.37:g.232144598A>T	ENSP00000403888:p.Ser704Cys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	134	49	0.365672	NM_001164537	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37		543|543	0.24862637362637363|0.24862637362637363	192|192	0.3902439024390244|0.3902439024390244	64|64	0.17679558011049723|0.17679558011049723	63|63	0.11013986013986014|0.11013986013986014	224|224	0.2955145118733509|0.2955145118733509	A|A	15.93|15.93	2.976831|2.976831	0.53720|0.53720	0.32706|0.32706	0.285817|0.285817	ENSG00000162946|ENSG00000162946	ENST00000535983;ENST00000422590|ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560	T|T	0.11169|0.10860	2.8|2.83	4.72|4.72	2.37|2.37	0.29283|0.29283	.|.	.|0.192478	.|0.44688	.|D	.|0.000431	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.43439|0.43439	P|P	0.0043840000000000545|0.0043840000000000545	D|D;D;D;D;P;P;D	0.71674|0.76494	0.998|0.997;0.985;0.999;0.999;0.924;0.924;0.969	D|P;P;D;D;P;P;P	0.66979|0.63192	0.948|0.799;0.694;0.912;0.912;0.621;0.621;0.621	T|T	0.43393|0.43393	-0.9394|-0.9394	6|8	.|0.54805	.|T	.|0.06	-7.3327|-7.3327	4.8096|4.8096	0.13337|0.13337	0.687:0.0:0.313:0.0|0.687:0.0:0.313:0.0	rs821616;rs52820800;rs821616|rs821616;rs52820800;rs821616	683|736;582;736;704;582;704;704	C4P0A3|C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5	.|.;.;.;.;.;.;DISC1_HUMAN	S|C	683;106|704;704;736;582;36	ENSP00000443996:R683S|ENSP00000403888:S704C	.|ENSP00000355597:S704C	R|S	+|+	3|1	2|0	DISC1|DISC1	230211221|230211221	1.000000|1.000000	0.71417|0.71417	0.206000|0.206000	0.23566|0.23566	0.628000|0.628000	0.37860|0.37860	2.731000|2.731000	0.47343|0.47343	0.839000|0.839000	0.34971|0.34971	0.528000|0.528000	0.53228|0.53228	AGA|AGC	A|0.747;T|0.253	0.253	strong		0.522	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		T	232144598	A	T	232144598	3	4	23	1	0	0	0	0	1	0	0	0	4538	304	11	5	2888	5	DISC1	1	232144598	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	241623	232144598	17106023	485	16941										
TARBP1	6894	hgsc.bcm.edu	37	chr1	234541801	234541801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acactaaaattgtgattgaaAcaccactgcagcacaactat	5	10	0	2	rs12073170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:234541801A>G	ENST00000040877.1	-	24	3836	c.3837T>C	c.(3835-3837)tgT>tgC	p.C1279C	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1279					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGTGATTGAAACACCACTGCA	0.373													A|||	569	0.113618	0.146	0.1744	5008	,	,		21750	0.0853		0.0885	False		,,,				2504	0.0818				p.C1279C		Atlas-SNP	.											.	TARBP1	111	.	0			c.T3837C						PASS	.	A		579,3827	259.2+/-262.9	48,483,1672	117	113	114		3837	-4.3	0.1	1	dbSNP_120	114	773,7827	183.0+/-231.3	39,695,3566	no	coding-synonymous	TARBP1	NM_005646.3		87,1178,5238	GG,GA,AA		8.9884,13.1412,10.3952		1279/1622	234541801	1352,11654	2203	4300	6503	SO:0001819	synonymous_variant	6894	exon24			ATTGAAACACCAC		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3837T>C	1.37:g.234541801A>G		Somatic	296	1	0.00337838		WXS	Illumina HiSeq	Phase_I	328	327	0.996951	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																			A|0.897;G|0.103	0.103	strong		0.373	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		G	234541801	A	G	234541801	2	3	23	1	0	0	0	0	0	0	0	1	15552	41	2	2		2	TARBP1	1	234541801	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2397203	234541801	14708820	486	16942										
ARID4B	51742	hgsc.bcm.edu	37	chr1	235383742	235383742	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttcattttcctccttaaCttttatttcttttacatttt	1	8	2	0	rs148132837		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:235383742C>G	ENST00000264183.3	-	15	1779	c.1282G>C	c.(1282-1284)Gtt>Ctt	p.V428L	ARID4B_ENST00000349213.3_Missense_Mutation_p.V428L|ARID4B_ENST00000366603.2_Missense_Mutation_p.V428L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	428	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCTCCTTAACTTTTATTTCT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		14311	0.0		0.001	False		,,,				2504	0.0				p.V428L		Atlas-SNP	.											.	ARID4B	142	.	0			c.G1282C						PASS	.	C	LEU/VAL,LEU/VAL,LEU/VAL	0,4406		0,0,2203	128	118	121		1282,1282,1282	-0.5	1	1	dbSNP_134	121	9,8585	7.1+/-27.0	0,9,4288	yes	missense,missense,missense	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	32,32,32	0,9,6491	GG,GC,CC		0.1047,0.0,0.0692	benign,benign,benign	428/1313,428/1313,428/1227	235383742	9,12991	2203	4297	6500	SO:0001583	missense	51742	exon15			CCTTAACTTTTAT	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1282G>C	1.37:g.235383742C>G	ENSP00000264183:p.Val428Leu	Somatic	405	0	0		WXS	Illumina HiSeq	Phase_I	487	158	0.324435	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242397	0.10077	0.0	0.001047	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.22945	1.95;1.93;1.93;1.97	5.29	-0.47	0.12131	.	0.806611	0.11942	N	0.514583	T	0.13586	0.0329	N	0.19112	0.55	0.25879	N	0.983618	B;B;B;B	0.12013	0.005;0.005;0.005;0.003	B;B;B;B	0.15052	0.007;0.012;0.007;0.003	T	0.36986	-0.9725	10	0.09084	T	0.74	-3.7761	10.6262	0.45508	0.0:0.4311:0.0:0.5689	.	109;428;428;428	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	L	428	ENSP00000264184:V428L;ENSP00000355562:V428L;ENSP00000264183:V428L;ENSP00000391497:V428L	ENSP00000264183:V428L	V	-	1	0	ARID4B	233450365	0.953000	0.32496	0.997000	0.53966	0.690000	0.40134	-0.041000	0.12084	-0.034000	0.13713	0.609000	0.83330	GTT	C|0.999;G|0.001	0.001	strong		0.348	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		G	235383742	C	G	235383742	3	3	23	1	0	0	0	0	1	0	0	0	920	565	20	4	2696	4	ARID4B	1	235383742	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	841941	235383742	13866879	487	16943										
ARID4B	51742	hgsc.bcm.edu	37	chr1	235392546	235392546	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcaactgttttcacttacTtcttcttcactgctattatc	2	11	5	0	rs17846600|rs12731746	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:235392546T>C	ENST00000264183.3	-	11	1394	c.897A>G	c.(895-897)gaA>gaG	p.E299E	ARID4B_ENST00000349213.3_Splice_Site_p.E299E|ARID4B_ENST00000366603.2_Splice_Site_p.E299E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	299	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACTTACTTCTTCTTCAC	0.348													C|||	2247	0.448682	0.4342	0.5086	5008	,	,		17805	0.251		0.4791	False		,,,				2504	0.5982				p.E299E		Atlas-SNP	.											.	ARID4B	142	.	0			c.A897G						PASS	.	C	,,	2060,2346	605.0+/-390.5	474,1112,617	95	88	90		897,897,897	4	1	1	dbSNP_121	90	3983,4617	598.5+/-393.9	920,2143,1237	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	1394,3255,1854	CC,CT,TT		46.314,46.7544,46.4632	,,	299/1313,299/1313,299/1227	235392546	6043,6963	2203	4300	6503	SO:0001630	splice_region_variant	51742	exon11			ACTTACTTCTTCT	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.897+1A>G	1.37:g.235392546T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	214	126	0.588785	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1																																																																																			T|0.545;C|0.455	0.455	strong		0.348	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Silent	C	235392546	T	C	235392546	5	2	23	1	0	0	0	0	0	0	1	0	920	1623	56	3	3097	3	ARID4B	1	235392546	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8804	235392546	13858075	488	16944										
ERO1LB	56605	hgsc.bcm.edu	37	chr1	236381825	236381825	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagcctttattacctactGtgttgtaataagactttaaa	5	6	0	1	rs1055851	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236381825G>C	ENST00000354619.5	-	16	1596	c.1395C>G	c.(1393-1395)caC>caG	p.H465Q	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	465			H -> Q (in dbSNP:rs1055851). {ECO:0000269|PubMed:10818100}.		4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ATTACCTACTGTGTTGTAATA	0.323													G|||	2851	0.569289	0.4803	0.5821	5008	,	,		15123	0.8839		0.4006	False		,,,				2504	0.5297				p.H465Q		Atlas-SNP	.											.	ERO1LB	48	.	0			c.C1395G						PASS	.	G	GLN/HIS	2147,2251	560.0+/-380.4	511,1125,563	57	63	61		1395	4.6	1	1	dbSNP_86	61	3443,5119	496.6+/-374.3	679,2085,1517	yes	missense	ERO1LB	NM_019891.3	24	1190,3210,2080	CC,CG,GG		40.2126,48.8176,43.1327	benign	465/468	236381825	5590,7370	2199	4281	6480	SO:0001583	missense	56605	exon16			CCTACTGTGTTGT	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1395C>G	1.37:g.236381825G>C	ENSP00000346635:p.His465Gln	Somatic	281	1	0.00355872		WXS	Illumina HiSeq	Phase_I	303	183	0.60396	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	1234	0.565018315018315	229	0.4654471544715447	209	0.5773480662983426	509	0.8898601398601399	287	0.3786279683377309	G	9.953	1.220760	0.22457	0.488176	0.402126	ENSG00000086619	ENST00000354619	T	0.29397	1.57	5.54	4.62	0.57501	.	0.301526	0.36932	N	0.002322	T	0.00012	0.0000	N	0.04508	-0.205	0.09310	P	0.9999999999999994	B	0.06786	0.001	B	0.04013	0.001	T	0.37731	-0.9693	9	0.21014	T	0.42	-19.4628	10.5749	0.45221	0.0766:0.169:0.7544:0.0	rs1055851;rs1749597;rs3196339;rs10317930;rs12735870;rs52808904;rs1055851	465	Q86YB8	ERO1B_HUMAN	Q	465	ENSP00000346635:H465Q	ENSP00000346635:H465Q	H	-	3	2	ERO1LB	234448448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.371000	0.20450	2.600000	0.87896	0.650000	0.86243	CAC	G|0.530;C|0.470	0.470	strong		0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		C	236381825	G	C	236381825	3	2	23	1	0	0	0	0	1	0	0	0	5240	1368	48	4	12	4	ERO1LB	1	236381825	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	989279	236381825	12868796	489	16945										
LGALS8	3964	hgsc.bcm.edu	37	chr1	236706300	236706300	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcgactgtcaatcacacttTgacttgcaccaaaataccac	4	13	2	1	rs2273865	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236706300T>A	ENST00000366584.4	+	7	1115				RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000527974.1_Nonsense_Mutation_p.L212*|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000526589.1_Nonsense_Mutation_p.L212*|LGALS8_ENST00000352231.2_Nonsense_Mutation_p.L212*|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000416919.2_Nonsense_Mutation_p.L153*|LGALS8_ENST00000525042.1_Nonsense_Mutation_p.L153*|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000450372.2_Nonsense_Mutation_p.L212*	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8						plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AATCACACTTTGACTTGCACC	0.373													T|||	657	0.13119	0.2209	0.1225	5008	,	,		18448	0.1806		0.0318	False		,,,				2504	0.0675				p.L212X		Atlas-SNP	.											.	LGALS8	42	.	0			c.T635A						PASS	.	T	stop/LEU,,,stop/LEU	854,3552	335.7+/-304.0	79,696,1428	113	108	110		635,,,635	2.6	1	1	dbSNP_100	110	338,8262	116.3+/-176.0	2,334,3964	yes	stop-gained,intron,intron,stop-gained	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	81,1030,5392	AA,AT,TT		3.9302,19.3827,9.165	,,,	212/360,,,212/360	236706300	1192,11814	2203	4300	6503	SO:0001627	intron_variant	3964	exon9			ACACTTTGACTTG	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.549+213T>A	1.37:g.236706300T>A		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	259	73	0.281853	NM_006499	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Nonsense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	249	0.11401098901098901	96	0.1951219512195122	36	0.09944751381215469	97	0.16958041958041958	20	0.026385224274406333	T	25.4	4.634918	0.87760	0.193827	0.039302	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	.	.	.	3.77	2.59	0.31030	.	0.176865	0.27424	N	0.019423	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.1016	0.25340	0.0:0.0:0.231:0.769	rs2273865;rs52827811;rs2273865	.	.	.	X	212;212;212;212;153;153	.	ENSP00000309576:L212X	L	+	2	0	LGALS8	234772923	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.360000	0.34125	0.768000	0.33290	0.533000	0.62120	TTG	T|0.899;A|0.101	0.101	strong		0.373	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236706300	T	A	236706300	1	1	23	0	1	0	0	0	0	0	0	0	8747	1821	63	5		5	LGALS8	1	236706300	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	324475	236706300	12544321	490	16946										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236719135	236719135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggctcggaagtccagggcTtccaggaaaaaggcggttag	16	8	0	0	rs1885532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236719135T>C	ENST00000366582.3	-	39	5733	c.5619A>G	c.(5617-5619)gaA>gaG	p.E1873E	HEATR1_ENST00000366581.2_Silent_p.E1792E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1873					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTCCAGGGCTTCCAGGAAAA	0.493													C|||	4372	0.873003	0.8775	0.8833	5008	,	,		19133	0.9593		0.8022	False		,,,				2504	0.8436				p.E1873E		Atlas-SNP	.											.	HEATR1	197	.	0			c.A5619G						PASS	.	C		3866,540	243.7+/-253.3	1692,482,29	121	113	116		5619	1.7	1	1	dbSNP_92	116	7069,1531	284.0+/-296.4	2902,1265,133	no	coding-synonymous	HEATR1	NM_018072.5		4594,1747,162	CC,CT,TT		17.8023,12.256,15.9234		1873/2145	236719135	10935,2071	2203	4300	6503	SO:0001819	synonymous_variant	55127	exon39			CAGGGCTTCCAGG	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5619A>G	1.37:g.236719135T>C		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	242	77	0.318182	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																			T|0.153;C|0.847	0.847	strong		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		C	236719135	T	C	236719135	2	2	23	1	0	0	0	0	0	0	0	1	7027	1606	56	3		3	HEATR1	1	236719135	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12835	236719135	12531486	491	16947										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236723108	236723108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatggactgtgcaactgcaCtgatatagccgagaacggtc	11	11	0	2	rs6661946	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236723108C>T	ENST00000366582.3	-	34	4790	c.4676G>A	c.(4675-4677)aGt>aAt	p.S1559N	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1478N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1559			S -> N (in dbSNP:rs6661946).		rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCAACTGCACTGATATAGCC	0.502													T|||	860	0.171725	0.3684	0.1398	5008	,	,		17205	0.1766		0.0328	False		,,,				2504	0.0665				p.S1559N		Atlas-SNP	.											.	HEATR1	197	.	0			c.G4676A						PASS	.	T	ASN/SER	1397,3009	687.6+/-404.9	210,977,1016	117	96	103		4676	4.6	0	1	dbSNP_116	103	339,8261	804.4+/-407.3	3,333,3964	yes	missense	HEATR1	NM_018072.5	46	213,1310,4980	TT,TC,CC		3.9419,31.7068,13.3477	benign	1559/2145	236723108	1736,11270	2203	4300	6503	SO:0001583	missense	55127	exon34			ACTGCACTGATAT	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4676G>A	1.37:g.236723108C>T	ENSP00000355541:p.Ser1559Asn	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	183	61	0.333333	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	330	0.1510989010989011	171	0.3475609756097561	45	0.12430939226519337	93	0.16258741258741258	21	0.027704485488126648	T	4.221	0.039925	0.08148	0.317068	0.039419	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.30448	1.53;1.53	5.74	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.326894	0.35708	N	0.003034	T	0.00012	0.0000	N	0.00237	-1.79	0.18873	P	0.9999890781	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.07813	T	0.8	.	7.7065	0.28653	0.1247:0.0683:0.0:0.807	rs6661946;rs56728358;rs6661946	1478;1559	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	N	1559;1478	ENSP00000355541:S1559N;ENSP00000355540:S1478N	ENSP00000355540:S1478N	S	-	2	0	HEATR1	234789731	0.999000	0.42202	0.001000	0.08648	0.012000	0.07955	3.763000	0.55257	0.429000	0.26202	-0.390000	0.06520	AGT	C|0.848;T|0.152	0.152	strong		0.502	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236723108	C	T	236723108	3	4	23	1	0	0	0	0	1	0	0	0	7027	565	20	2	1806	2	HEATR1	1	236723108	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3973	236723108	12527513	492	16948										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236729965	236729965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttttcgccataggcagccGccagcactgtttttgtgaca	9	13	0	1	rs61736343	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236729965G>A	ENST00000366582.3	-	30	4403	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A1349V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1430					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATAGGCAGCCGCCAGCACTGT	0.433													G|||	31	0.0061901	0.0008	0.0072	5008	,	,		16809	0.0		0.0149	False		,,,				2504	0.0102				p.A1430V		Atlas-SNP	.											HEATR1,caecum,carcinoma,0,1	HEATR1	197	1	0			c.C4289T						PASS	.	G	VAL/ALA	21,4385	27.2+/-55.0	0,21,2182	33	33	33		4289	-1.5	0.7	1	dbSNP_129	33	224,8376	93.1+/-155.1	1,222,4077	yes	missense	HEATR1	NM_018072.5	64	1,243,6259	AA,AG,GG		2.6047,0.4766,1.8837	benign	1430/2145	236729965	245,12761	2203	4300	6503	SO:0001583	missense	55127	exon30			GCAGCCGCCAGCA	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4289C>T	1.37:g.236729965G>A	ENSP00000355541:p.Ala1430Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	117	38	0.324786	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	13	0.005952380952380952	0	0.0	4	0.011049723756906077	0	0.0	9	0.011873350923482849	G	10.24	1.294369	0.23564	0.004766	0.026047	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.39229	1.09;1.09	5.6	-1.54	0.08584	Armadillo-like helical (1);Armadillo-type fold (1);	1.273310	0.05144	N	0.494798	T	0.05868	0.0153	N	0.01267	-0.92	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18116	-1.0347	10	0.18710	T	0.47	.	11.8433	0.52368	0.5277:0.0:0.4723:0.0	.	1349;1430	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	1430;1349	ENSP00000355541:A1430V;ENSP00000355540:A1349V	ENSP00000355540:A1349V	A	-	2	0	HEATR1	234796588	0.002000	0.14202	0.731000	0.30826	0.919000	0.55068	-0.017000	0.12590	-0.537000	0.06290	-0.302000	0.09304	GCG	G|0.985;A|0.015	0.015	strong		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236729965	G	A	236729965	3	1	23	1	0	0	0	0	1	0	0	0	7027	1087	38	1	2209	1	HEATR1	1	236729965	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6857	236729965	12520656	493	16949										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236748397	236748397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagactcttatcgcaaatggAaagtgggtttcttttaaaga	9	5	2	2	rs41304149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236748397A>G	ENST00000366582.3	-	17	2283	c.2169T>C	c.(2167-2169)ttT>ttC	p.F723F	HEATR1_ENST00000366581.2_Silent_p.F723F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	723					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCGCAAATGGAAAGTGGGTTT	0.403													A|||	38	0.00758786	0.0061	0.0072	5008	,	,		19516	0.0		0.0149	False		,,,				2504	0.0102				p.F723F		Atlas-SNP	.											.	HEATR1	197	.	0			c.T2169C						PASS	.	A		40,4366	43.1+/-76.7	0,40,2163	110	110	110		2169	-0.1	1	1	dbSNP_127	110	226,8374	92.6+/-154.6	1,224,4075	no	coding-synonymous	HEATR1	NM_018072.5		1,264,6238	GG,GA,AA		2.6279,0.9079,2.0452		723/2145	236748397	266,12740	2203	4300	6503	SO:0001819	synonymous_variant	55127	exon17			AAATGGAAAGTGG	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2169T>C	1.37:g.236748397A>G		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	212	86	0.40566	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																			A|0.984;G|0.016	0.016	strong		0.403	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		G	236748397	A	G	236748397	2	3	23	1	0	0	0	0	0	0	0	1	7027	243	9	2		2	HEATR1	1	236748397	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	18432	236748397	12502224	494	16950										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236750709	236750709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgaatacataccattctcCattctttgaaagttctgctc	4	10	3	2	rs56242514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236750709C>T	ENST00000366582.3	-	14	1822	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	HEATR1_ENST00000366581.2_Missense_Mutation_p.G570R	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	570					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACCATTCTCCATTCTTTGAA	0.289													C|||	38	0.00758786	0.0061	0.0072	5008	,	,		15898	0.0		0.0149	False		,,,				2504	0.0102				p.G570R		Atlas-SNP	.											.	HEATR1	197	.	0			c.G1708A						PASS	.	C	ARG/GLY	40,4354	41.6+/-74.8	0,40,2157	42	41	41		1708	1.8	0.1	1	dbSNP_129	41	222,8356	87.1+/-149.5	1,220,4068	yes	missense	HEATR1	NM_018072.5	125	1,260,6225	TT,TC,CC		2.588,0.9103,2.0197	benign	570/2145	236750709	262,12710	2197	4289	6486	SO:0001583	missense	55127	exon14			ATTCTCCATTCTT	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1708G>A	1.37:g.236750709C>T	ENSP00000355541:p.Gly570Arg	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	401	126	0.314214	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	15	0.006868131868131868	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	9	0.011873350923482849	C	1.351	-0.591306	0.03799	0.009103	0.02588	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64991	-0.13;1.12	5.58	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.780131	0.12467	N	0.466323	T	0.12518	0.0304	N	0.03608	-0.345	0.24886	N	0.9922	B	0.02656	0.0	B	0.04013	0.001	T	0.12400	-1.0549	10	0.11182	T	0.66	.	6.6383	0.22895	0.0:0.4837:0.0:0.5163	rs56242514	570	Q9H583	HEAT1_HUMAN	R	570	ENSP00000355541:G570R;ENSP00000355540:G570R	ENSP00000355540:G570R	G	-	1	0	HEATR1	234817332	0.349000	0.24870	0.140000	0.22221	0.727000	0.41649	1.840000	0.39230	0.364000	0.24374	-0.294000	0.09567	GGA	C|0.985;T|0.015	0.015	strong		0.289	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236750709	C	T	236750709	3	4	23	1	0	0	0	0	1	0	0	0	7027	603	21	2	4854	2	HEATR1	1	236750709	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2312	236750709	12499912	495	16951										
HEATR1	55127	hgsc.bcm.edu	37	chr1	236767288	236767288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtccctgtcgattgtggcCgcttccttagggtcaaataa	11	10	1	0	rs16834056	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:236767288C>T	ENST00000366582.3	-	2	222	c.108G>A	c.(106-108)gcG>gcA	p.A36A	HEATR1_ENST00000366581.2_Silent_p.A36A|HEATR1_ENST00000366579.1_Silent_p.A36A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	36					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGATTGTGGCCGCTTCCTTAG	0.473													C|||	31	0.0061901	0.0008	0.0072	5008	,	,		16862	0.0		0.0149	False		,,,				2504	0.0102				p.A36A		Atlas-SNP	.											.	HEATR1	197	.	0			c.G108A						PASS	.	C		22,4384	28.1+/-56.4	0,22,2181	67	66	66		108	-0.3	1	1	dbSNP_123	66	226,8374	93.3+/-155.3	1,224,4075	no	coding-synonymous	HEATR1	NM_018072.5		1,246,6256	TT,TC,CC		2.6279,0.4993,1.9068		36/2145	236767288	248,12758	2203	4300	6503	SO:0001819	synonymous_variant	55127	exon2			TGTGGCCGCTTCC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.108G>A	1.37:g.236767288C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	161	54	0.335404	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																			C|0.985;T|0.015	0.015	strong		0.473	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236767288	C	T	236767288	2	4	23	1	0	0	0	0	0	0	0	1	7027	639	23	1		1	HEATR1	1	236767288	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16579	236767288	12483333	496	16952										
KMO	8564	hgsc.bcm.edu	37	chr1	241695792	241695792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagtagctgtcattggtggTggcttggtaagaattttcag	13	4	2	1	rs3819976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:241695792T>C	ENST00000366559.4	+	1	359	c.48T>C	c.(46-48)ggT>ggC	p.G16G	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Silent_p.G16G|KMO_ENST00000366557.4_Silent_p.G16G	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCATTGGTGGTGGCTTGGTAA	0.333													T|||	550	0.109824	0.1808	0.0692	5008	,	,		16107	0.1359		0.0318	False		,,,				2504	0.0961				p.G16G		Atlas-SNP	.											.	KMO	69	.	0			c.T48C						PASS	.	T		752,3654	308.3+/-290.5	69,614,1520	227	232	230		48	1.5	1	1	dbSNP_107	230	191,8409	85.0+/-147.5	6,179,4115	no	coding-synonymous	KMO	NM_003679.3		75,793,5635	CC,CT,TT		2.2209,17.0676,7.2505		16/487	241695792	943,12063	2203	4300	6503	SO:0001819	synonymous_variant	8564	exon1			TGGTGGTGGCTTG	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.48T>C	1.37:g.241695792T>C		Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	237	160	0.675106	NM_003679		Silent	SNP	ENST00000366559.4	37	CCDS1618.1																																																																																			T|0.910;C|0.090	0.090	strong		0.333	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		C	241695792	T	C	241695792	2	2	23	1	0	0	0	0	0	0	0	1	8424	1683	59	2		2	KMO	1	241695792	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4928504	241695792	7554829	497	16953										
KMO	23596	hgsc.bcm.edu	37	chr1	241755348	241755348	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcaccacgatctttcctcCgcttgagaagaccatggaac	8	13	2	2	rs1053230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:241755348C>T	ENST00000366554.2	-	0	2620				KMO_ENST00000366558.3_Missense_Mutation_p.R439C|OPN3_ENST00000469376.1_5'Flank|KMO_ENST00000366559.4_Missense_Mutation_p.R452C|KMO_ENST00000366557.4_Missense_Mutation_p.R418C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCTTTCCTCCGCTTGAGAAG	0.448													C|||	582	0.116214	0.0091	0.1282	5008	,	,		19206	0.0526		0.2237	False		,,,				2504	0.2076				p.R452C		Atlas-SNP	.											KMO,NS,adenoma,0,1	KMO	69	1	0			c.C1354T						scavenged	.	C	CYS/ARG	192,4214	121.3+/-158.8	2,188,2013	174	148	157		1354	0.3	0	1	dbSNP_86	157	1945,6655	343.5+/-324.9	212,1521,2567	yes	missense	KMO	NM_003679.3	180	214,1709,4580	TT,TC,CC		22.6163,4.3577,16.4309	benign	452/487	241755348	2137,10869	2203	4300	6503	SO:0001628	intergenic_variant	8564	exon15			TTCCTCCGCTTGA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755348C>T		Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	104	50	0.480769	NM_003679	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	271|271	0.12408424908424909|0.12408424908424909	5|5	0.01016260162601626|0.01016260162601626	55|55	0.15193370165745856|0.15193370165745856	37|37	0.06468531468531469|0.06468531468531469	174|174	0.22955145118733508|0.22955145118733508	C|C	4.393|4.393	0.072607|0.072607	0.08436|0.08436	0.043577|0.043577	0.226163|0.226163	ENSG00000117009|ENSG00000117009	ENST00000366555|ENST00000366559;ENST00000366558;ENST00000366557	.|T;T;T	.|0.44482	.|0.92;0.92;0.95	5.4|5.4	0.337|0.337	0.15966|0.15966	.|.	.|1.582250	.|0.02739	.|N	.|0.116117	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.12372|0.12372	-1.0550|-1.0550	4|9	.|0.38643	.|T	.|0.18	.|.	7.3222|7.3222	0.26533|0.26533	0.0:0.3956:0.0:0.6044|0.0:0.3956:0.0:0.6044	rs1053230;rs58727153;rs1053230|rs1053230;rs58727153;rs1053230	.|452	.|O15229	.|KMO_HUMAN	L|C	137|452;439;418	.|ENSP00000355517:R452C;ENSP00000355516:R439C;ENSP00000355515:R418C	.|ENSP00000355515:R418C	P|R	+|+	2|1	0|0	KMO|KMO	239821971|239821971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.265000|0.265000	0.18515|0.18515	0.139000|0.139000	0.18822|0.18822	-0.247000|-0.247000	0.11927|0.11927	CCG|CGC	C|0.853;T|0.147	0.147	strong		0.448	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		T	241755348	C	T	241755348	1	4	23	0	1	0	0	0	0	0	0	0	8424	652	23	1		1	KMO	1	241755348	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	59556	241755348	7495273	498	16954										
EXO1	9156	hgsc.bcm.edu	37	chr1	242035438	242035438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatcattgagcttttctgaaGtgtttgtgcctgacctggta	10	7	2	3	rs4149965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:242035438G>A	ENST00000366548.3	+	12	1965	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	EXO1_ENST00000518483.1_Missense_Mutation_p.V458M|EXO1_ENST00000348581.5_Missense_Mutation_p.V458M	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	458	Interaction with MLH1.		V -> M (in dbSNP:rs4149965). {ECO:0000269|Ref.5}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTTTTCTGAAGTGTTTGTGCC	0.373								Editing and processing nucleases					G|||	450	0.0898562	0.0061	0.1354	5008	,	,		15011	0.0		0.2505	False		,,,				2504	0.0982				p.V458M		Atlas-SNP	.											EXO1,caecum,carcinoma,0,2	EXO1	103	2	0			c.G1372A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL	194,4212	122.9+/-160.3	8,178,2017	66	65	65		1372,1372,1372	-3.2	0	1	dbSNP_110	65	2075,6525	359.5+/-331.6	259,1557,2484	yes	missense,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	21,21,21	267,1735,4501	AA,AG,GG		24.1279,4.4031,17.4458	benign,benign,benign	458/804,458/847,458/847	242035438	2269,10737	2203	4300	6503	SO:0001583	missense	9156	exon10			TCTGAAGTGTTTG	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1372G>A	1.37:g.242035438G>A	ENSP00000355506:p.Val458Met	Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	379	202	0.532982	NM_006027	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	257	0.11767399267399267	7	0.014227642276422764	59	0.16298342541436464	0	0.0	191	0.2519788918205805	G	0.150	-1.092237	0.01858	0.044031	0.241279	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32988	1.43;1.43;1.43	5.3	-3.18	0.05186	.	1.150810	0.06104	N	0.665867	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.16166	0.016;0.003	B;B	0.08055	0.003;0.001	T	0.37337	-0.9710	9	0.31617	T	0.26	-12.247	0.5491	0.00659	0.3634:0.2096:0.2326:0.1943	rs4149965;rs17391648;rs52794763;rs59699975;rs4149965	458;458	Q9UQ84-4;Q9UQ84	.;EXO1_HUMAN	M	458	ENSP00000355506:V458M;ENSP00000311873:V458M;ENSP00000430251:V458M	ENSP00000311873:V458M	V	+	1	0	EXO1	240102061	0.013000	0.17824	0.020000	0.16555	0.207000	0.24258	0.025000	0.13577	-0.430000	0.07318	-0.355000	0.07637	GTG	G|0.851;A|0.149	0.149	strong		0.373	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		A	242035438	G	A	242035438	3	1	23	1	0	0	0	0	1	0	0	0	5300	1029	36	2	1406	2	EXO1	1	242035438	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	280090	242035438	7215183	499	16955										
CEP170	9859	hgsc.bcm.edu	37	chr1	243329049	243329049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtttgctttaccaaagaaGtttccttatcagtttcactt	5	8	2	1	rs3766664	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:243329049G>A	ENST00000366542.1	-	13	2264	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	CEP170_ENST00000366544.1_Missense_Mutation_p.T640I|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.T640I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	738						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TACCAAAGAAGTTTCCTTATC	0.393																																					p.T738I		Atlas-SNP	.											.	CEP170	153	.	0			c.C2213T						PASS	.						211	204	206					1																	243329049		1864	4090	5954	SO:0001583	missense	9859	exon13			AAAGAAGTTTCCT	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2213C>T	1.37:g.243329049G>A	ENSP00000355500:p.Thr738Ile	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	336	54	0.160714	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.512|9.512	1.106068|1.106068	0.20632|0.20632	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.46819	.|0.87;0.86;0.86	5.25|5.25	3.25|3.25	0.37280|0.37280	.|.	.|1.055560	.|0.07311	.|N	.|0.875849	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.19112|0.19112	0.55|0.55	0.26599|0.26599	N|N	0.973053|0.973053	.|B;B;B;B	.|0.34200	.|0.068;0.096;0.441;0.07	.|B;B;B;B	.|0.35312	.|0.093;0.067;0.2;0.043	T|T	0.28808|0.28808	-1.0032|-1.0032	5|10	.|0.44086	.|T	.|0.13	0.1048|0.1048	7.1054|7.1054	0.25360|0.25360	0.0872:0.0:0.7427:0.1701|0.0872:0.0:0.7427:0.1701	rs3766664|rs3766664	.|701;640;640;738	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	F|I	702|738;640;640	.|ENSP00000355500:T738I;ENSP00000355502:T640I;ENSP00000355501:T640I	.|ENSP00000355500:T738I	L|T	-|-	1|2	0|0	CEP170|CEP170	241395672|241395672	0.174000|0.174000	0.23070|0.23070	0.502000|0.502000	0.27614|0.27614	0.868000|0.868000	0.49771|0.49771	1.630000|1.630000	0.37081|0.37081	1.208000|1.208000	0.43306|0.43306	0.484000|0.484000	0.47621|0.47621	CTT|ACT	G|0.167;A|0.833	0.833	weak		0.393	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243329049	G	A	243329049	3	1	23	1	0	0	0	0	1	0	0	0	3250	1029	36	2	2603	2	CEP170	1	243329049	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1293611	243329049	5921572	500	16956										
CEP170	9859	hgsc.bcm.edu	37	chr1	243329075	243329075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatcagtttcacttttctcTtttccaggagcagagctgcc	7	11	3	1	rs61833876		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:243329075T>C	ENST00000366542.1	-	13	2238	c.2187A>G	c.(2185-2187)aaA>aaG	p.K729K	CEP170_ENST00000366544.1_Silent_p.K631K|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.K631K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	729						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACTTTTCTCTTTTCCAGGAG	0.413																																					p.K729K		Atlas-SNP	.											.	CEP170	153	.	0			c.A2187G						PASS	.						195	180	185					1																	243329075		1853	4091	5944	SO:0001819	synonymous_variant	9859	exon13			TTTCTCTTTTCCA	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2187A>G	1.37:g.243329075T>C		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	322	42	0.130435	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779384	0.02929	.	.	ENSG00000143702	ENST00000336415	T	0.47869	0.83	5.25	2.17	0.27698	.	0.262387	0.32952	N	0.005443	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05007	-1.0912	7	0.16420	T	0.52	-4.5936	6.1109	0.20100	0.0:0.4336:0.0:0.5664	rs61833876	.	.	.	R	693	ENSP00000338161:K693R	ENSP00000338161:K693R	K	-	2	0	CEP170	241395698	1.000000	0.71417	0.962000	0.40283	0.478000	0.33099	0.760000	0.26475	0.238000	0.21222	-0.338000	0.08134	AAG	T|0.500;C|0.500	0.500	weak		0.413	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		C	243329075	T	C	243329075	2	2	23	1	0	0	0	0	0	0	0	1	3250	1606	56	3		3	CEP170	1	243329075	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26	243329075	5921546	501	16957										
HNRNPU	3192	hgsc.bcm.edu	37	chr1	245027349	245027349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctcctcttcctcttcCtcctcctcttcatcgccgcc	2	23	4	0	rs6675421	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:245027349C>T	ENST00000283179.9	-	1	424	c.261G>A	c.(259-261)gaG>gaA	p.E87E	HNRNPU_ENST00000444376.2_Silent_p.E87E|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	87	Asp/Glu-rich (acidic).|Poly-Glu.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			cttcctcttcctcctcctctt	0.711													C|||	1428	0.285144	0.4017	0.3919	5008	,	,		13947	0.1706		0.2644	False		,,,				2504	0.1912				p.E87E	NSCLC(33;911 1010 3329 23631 49995)	Atlas-SNP	.											.	HNRNPU	64	.	0			c.G261A						PASS	.		,	1397,2783		245,907,938	7	9	8		261,261	2.8	1	1	dbSNP_116	8	1866,6558		215,1436,2561	no	coding-synonymous,coding-synonymous	HNRNPU	NM_004501.3,NM_031844.2	,	460,2343,3499	TT,TC,CC		22.151,33.4211,25.8886	,	87/807,87/826	245027349	3263,9341	2090	4212	6302	SO:0001819	synonymous_variant	3192	exon1			CTCTTCCTCCTCC	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.261G>A	1.37:g.245027349C>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_004501	O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																			C|0.723;T|0.277	0.277	strong		0.711	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		T	245027349	C	T	245027349	2	4	23	1	0	0	0	0	0	0	0	1	7273	680	24	2		2	HNRNPU	1	245027349	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1698274	245027349	4223272	502	16958										
KIF26B	55083	hgsc.bcm.edu	37	chr1	245772617	245772617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gattccatgcagaacctgggCatcattccctgtgccatctc	8	14	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:245772617C>T	ENST00000407071.2	+	8	2141	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	KIF26B_ENST00000366518.4_Silent_p.G186G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	567	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGAACCTGGGCATCATTCCCT	0.517																																					p.G567G		Atlas-SNP	.											KIF26B_ENST00000407071,NS,carcinoma,0,2	KIF26B	343	2	0			c.C1701T						scavenged	.						40	41	41					1																	245772617		1932	4139	6071	SO:0001819	synonymous_variant	55083	exon8			CCTGGGCATCATT	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1701C>T	1.37:g.245772617C>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	283	3	0.0106007	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																			.	.	none		0.517	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245772617	C	T	245772617	2	4	23	1	0	0	0	0	0	0	0	1	8295	697	25	2		2	KIF26B	1	245772617	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	745268	245772617	3478004	503	16959										
SMYD3	64754	hgsc.bcm.edu	37	chr1	246021858	246021858	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccaacaggccgaggttgAtgcaggcatccatggcgcag	13	13	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:246021858A>G	ENST00000388985.4	-	10	1015	c.1016T>C	c.(1015-1017)aTc>aCc	p.I339T	SMYD3_ENST00000490107.1_Missense_Mutation_p.I280T|SMYD3_ENST00000541742.1_Missense_Mutation_p.I280T|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	339					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GCCGAGGTTGATGCAGGCATC	0.552																																					p.I339T		Atlas-SNP	.											SMYD3_ENST00000388985,right_lower_lobe,carcinoma,+1,2	SMYD3	77	2	0			c.T1016C						scavenged	.						145	119	128					1																	246021858		2203	4300	6503	SO:0001583	missense	64754	exon10			AGGTTGATGCAGG	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1016T>C	1.37:g.246021858A>G	ENSP00000373637:p.Ile339Thr	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	219	3	0.0136986	NM_001167740	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385062	0.82792	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985	T;T;T	0.25250	1.81;1.81;1.81	5.57	5.57	0.84162	.	0.125689	0.52532	D	0.000071	T	0.33990	0.0882	L	0.56199	1.76	0.58432	D	0.999998	P;P	0.45474	0.859;0.6	P;B	0.47915	0.561;0.345	T	0.02950	-1.1090	10	0.30078	T	0.28	-18.4157	15.7313	0.77807	1.0:0.0:0.0:0.0	.	339;150	Q9H7B4;B3KN46	SMYD3_HUMAN;.	T	280;280;169;339	ENSP00000444184:I280T;ENSP00000419184:I280T;ENSP00000373637:I339T	ENSP00000373637:I339T	I	-	2	0	SMYD3	244088481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	2.119000	0.64992	0.533000	0.62120	ATC	.	.	none		0.552	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		G	246021858	A	G	246021858	3	3	23	1	0	0	0	0	1	0	0	0	14823	333	12	2	282	2	SMYD3	1	246021858	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	249241	246021858	3228763	504	16960										
AHCTF1	25909	hgsc.bcm.edu	37	chr1	247051714	247051714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatgcagactagcaggaggAtattttcctgtgcctccttc	9	11	0	1	rs144599339	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247051714A>G	ENST00000391829.2	-	18	2373	c.2250T>C	c.(2248-2250)taT>taC	p.Y750Y	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.Y759Y|AHCTF1_ENST00000366508.1_Silent_p.Y785Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	750	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TAGCAGGAGGATATTTTCCTG	0.463													A|||	13	0.00259585	0.0	0.0014	5008	,	,		18465	0.0		0.006	False		,,,				2504	0.0061				p.Y759Y	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											.	AHCTF1	187	.	0			c.T2277C						PASS	.	A		3,4403	6.2+/-15.9	0,3,2200	134	125	128		2277	-1.4	1	1	dbSNP_134	128	54,8546	33.8+/-87.4	0,54,4246	no	coding-synonymous	AHCTF1	NM_015446.4		0,57,6446	GG,GA,AA		0.6279,0.0681,0.4383		759/2276	247051714	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	25909	exon18			AGGAGGATATTTT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2250T>C	1.37:g.247051714A>G		Somatic	477	1	0.00209644		WXS	Illumina HiSeq	Phase_I	565	328	0.580531	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																				A|0.997;G|0.003	0.003	strong		0.463	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247051714	A	G	247051714	2	3	23	1	0	0	0	0	0	0	0	1	408	340	12	2		2	AHCTF1	1	247051714	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1029856	247051714	2198907	505	16961										
OR2B11	127623	hgsc.bcm.edu	37	chr1	247615262	247615262	+	Frame_Shift_Del	DEL	A	A	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttaggggagtcccctaagAagctatggttgtcacttttc					rs35305980|rs397733455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247615262delA	ENST00000318749.6	-	1	46	c.23delT	c.(22-24)ttcfs	p.F8fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCCTAAGAAGCTATGGTT	0.473													AA|AA|A|deletion	2249	0.449081	0.2852	0.5274	5008	,	,		21865	0.4762		0.4563	False		,,,				2504	0.5798				p.F8fs		Pindel	.											.	OR2B11	102	.	0			c.24delC						PASS	.			1318,2948		196,926,1011	74	72	73			0	0	1	dbSNP_131	112	3624,4628		809,2006,1311	no	frameshift	OR2B11	NM_001004492.1		1005,2932,2322	A1A1,A1R,RR		43.9166,30.8955,39.4792			247615262	4942,7576	2167	4183	6350	SO:0001589	frameshift_variant	127623	exon1			.		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.23delT	1.37:g.247615262delA	ENSP00000325682:p.Phe8fs	Somatic	138	.	.		WXS	Illumina HiSeq	Phase_I	155	90	0.581	NM_001004492	B2RP03	Frame_Shift_Del	DEL	ENST00000318749.6	37	CCDS31090.1																																																																																			A|0.570;-|0.430	0.430	strong		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		-	247615262	A	-	247615262	7	5	23	1	0	1	0	1	0	0	0	0	10988	246	9	0	933	0	OR2B11	1	247615262	Frame_Shift_Del	DEL	A	TCGA-GR-7353-01A-11D-2210-10	563548	247615262	1635359	506	16962										
OR2W5	441932	hgsc.bcm.edu	37	chr1	247654916	247654916	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcatcatgtgtcctcagAcgatgcagctctcccggtgt	9	14	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247654916A>G	ENST00000522351.1	+	0	547							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTGTCCTCAGACGATGCAGCT	0.562																																					p.T163A		Atlas-SNP	.											OR2W5,NS,adenocarcinoma,-2,1	OR2W5	97	1	0			c.A487G						scavenged	.						119	94	103					1																	247654916		2203	4300	6503			441932	exon1			CCTCAGACGATGC			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654916A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	243	4	0.0164609	NM_001004698	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																				.	.	none		0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		G	247654916	A	G	247654916	1	3	23	0	1	0	0	0	0	0	0	0	11034	275	10	2		2	OR2W5	1	247654916	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	39654	247654916	1595705	507	16963										
OR2C3	81472	hgsc.bcm.edu	37	chr1	247695427	247695427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgacagtgtaatggagtggCctgcagatggcagcgtagcg	16	7	0	2	rs34220133	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247695427C>G	ENST00000366487.3	-	2	748	c.387G>C	c.(385-387)agG>agC	p.R129S	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	129			R -> S (in dbSNP:rs34220133).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AATGGAGTGGCCTGCAGATGG	0.592													C|||	346	0.0690895	0.0333	0.0504	5008	,	,		21239	0.002		0.1372	False		,,,				2504	0.1299				p.R129S		Atlas-SNP	.											OR2C3,NS,carcinoma,0,1	OR2C3	92	1	0			c.G387C						PASS	.	C	SER/ARG	219,4187	134.5+/-170.7	6,207,1990	66	68	67		387	2	0.9	1	dbSNP_126	67	1411,7189	271.1+/-289.3	117,1177,3006	yes	missense	OR2C3	NM_198074.4	110	123,1384,4996	GG,GC,CC		16.407,4.9705,12.5327	probably-damaging	129/321	247695427	1630,11376	2203	4300	6503	SO:0001583	missense	81472	exon2			GAGTGGCCTGCAG	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.387G>C	1.37:g.247695427C>G	ENSP00000355443:p.Arg129Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	146	57	0.390411	NM_198074	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	143	0.06547619047619048	12	0.024390243902439025	25	0.06906077348066299	2	0.0034965034965034965	104	0.13720316622691292	C	17.27	3.347422	0.61183	0.049705	0.16407	ENSG00000196242	ENST00000366487	T	0.01304	5.03	3.89	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.430133	0.16469	U	0.213067	T	0.00012	0.0000	L	0.46157	1.445	0.42774	P	0.0061550000000000216	B	0.33694	0.421	B	0.28139	0.086	T	0.47394	-0.9121	9	0.87932	D	0	.	7.8991	0.29723	0.0:0.7916:0.0:0.2084	rs34220133	129	Q8N628	OR2C3_HUMAN	S	129	ENSP00000355443:R129S	ENSP00000355443:R129S	R	-	3	2	OR2C3	245762050	0.000000	0.05858	0.853000	0.33588	0.950000	0.60333	-2.208000	0.01229	0.418000	0.25898	0.650000	0.86243	AGG	C|0.891;G|0.109	0.109	strong		0.592	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		G	247695427	C	G	247695427	3	3	23	1	0	0	0	0	1	0	0	0	10993	738	26	4	579	4	OR2C3	1	247695427	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40511	247695427	1555194	508	16964										
OR2G3	81469	hgsc.bcm.edu	37	chr1	247769062	247769062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccccctcttcataccccaAtgtacttttttctcagcaac	2	16	3	0	rs61748963	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247769062A>G	ENST00000320002.2	+	1	207	c.175A>G	c.(175-177)Atg>Gtg	p.M59V	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCATACCCCAATGTACTTTTT	0.423													A|||	288	0.057508	0.0053	0.0994	5008	,	,		21406	0.005		0.1083	False		,,,				2504	0.1002				p.M59V		Atlas-SNP	.											OR2G3,NS,carcinoma,-2,2	OR2G3	108	2	0			c.A175G						PASS	.	A	VAL/MET	109,4297	83.9+/-122.4	1,107,2095	268	260	263		175	3.8	0.8	1	dbSNP_129	263	1048,7552	223.0+/-259.9	74,900,3326	yes	missense	OR2G3	NM_001001914.1	21	75,1007,5421	GG,GA,AA		12.186,2.4739,8.8959	probably-damaging	59/310	247769062	1157,11849	2203	4300	6503	SO:0001583	missense	81469	exon1			ACCCCAATGTACT	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.175A>G	1.37:g.247769062A>G	ENSP00000326301:p.Met59Val	Somatic	459	1	0.00217865		WXS	Illumina HiSeq	Phase_I	560	346	0.617857	NM_001001914	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	134	0.06135531135531135	3	0.006097560975609756	46	0.1270718232044199	2	0.0034965034965034965	83	0.10949868073878628	A	9.626	1.135224	0.21123	0.024739	0.12186	ENSG00000177476	ENST00000320002	T	0.09350	2.99	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.149295	0.29572	U	0.011778	T	0.00271	0.0008	H	0.95917	3.74	0.38059	P	0.06399999999999995	B	0.24963	0.115	B	0.29077	0.098	T	0.06734	-1.0810	9	0.87932	D	0	.	10.8362	0.46688	1.0:0.0:0.0:0.0	rs61748963	59	Q8NGZ4	OR2G3_HUMAN	V	59	ENSP00000326301:M59V	ENSP00000326301:M59V	M	+	1	0	OR2G3	245835685	1.000000	0.71417	0.785000	0.31869	0.054000	0.15201	7.298000	0.78815	1.719000	0.51432	0.398000	0.26397	ATG	A|0.914;G|0.086	0.086	strong		0.423	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			G	247769062	A	G	247769062	3	3	23	1	0	0	0	0	1	0	0	0	10999	101	4	2	177	2	OR2G3	1	247769062	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	73635	247769062	1481559	509	16965										
OR2G3	81469	hgsc.bcm.edu	37	chr1	247769752	247769752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccccactttaaatcctatcAtctatactttaaggaacaag	3	12	2	0	rs61730407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247769752A>G	ENST00000320002.2	+	1	897	c.865A>G	c.(865-867)Atc>Gtc	p.I289V	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAATCCTATCATCTATACTTT	0.418													A|||	1693	0.338059	0.2307	0.3127	5008	,	,		19391	0.4325		0.4394	False		,,,				2504	0.2996				p.I289V		Atlas-SNP	.											.	OR2G3	108	.	0			c.A865G						PASS	.	A	VAL/ILE	1057,3349	385.1+/-325.6	140,777,1286	85	82	83		865	3.7	0.5	1	dbSNP_129	83	3646,4954	524.7+/-380.6	790,2066,1444	yes	missense	OR2G3	NM_001001914.1	29	930,2843,2730	GG,GA,AA		42.3953,23.99,36.1602	probably-damaging	289/310	247769752	4703,8303	2203	4300	6503	SO:0001583	missense	81469	exon1			CCTATCATCTATA	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.865A>G	1.37:g.247769752A>G	ENSP00000326301:p.Ile289Val	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	163	159	0.97546	NM_001001914	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	814	0.3727106227106227	104	0.21138211382113822	134	0.3701657458563536	247	0.4318181818181818	329	0.4340369393139842	A	14.76	2.630914	0.46944	0.2399	0.423953	ENSG00000177476	ENST00000320002	T	0.52057	0.68	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002213	T	0.00012	0.0000	M	0.86651	2.83	0.49130	P	2.4500000000005073E-4	D	0.63046	0.992	D	0.80764	0.994	T	0.37731	-0.9693	9	0.66056	D	0.02	.	10.5906	0.45308	1.0:0.0:0.0:0.0	rs61730407	289	Q8NGZ4	OR2G3_HUMAN	V	289	ENSP00000326301:I289V	ENSP00000326301:I289V	I	+	1	0	OR2G3	245836375	0.445000	0.25657	0.531000	0.27976	0.988000	0.76386	0.983000	0.29552	1.648000	0.50643	0.403000	0.27427	ATC	A|0.629;G|0.371	0.371	strong		0.418	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			G	247769752	A	G	247769752	3	3	23	1	0	0	0	0	1	0	0	0	10999	217	8	2	867	2	OR2G3	1	247769752	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	690	247769752	1480869	510	16966										
OR13G1	441933	hgsc.bcm.edu	37	chr1	247835779	247835779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcacctcattgattcttaCagggctacaggacaaagcca	7	12	3	1	rs56096718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247835779C>G	ENST00000359688.2	-	1	586	c.565G>C	c.(565-567)Gta>Cta	p.V189L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGATTCTTACAGGGCTACAG	0.448													C|||	118	0.0235623	0.0045	0.0447	5008	,	,		23401	0.001		0.0517	False		,,,				2504	0.0286				p.V189L		Atlas-SNP	.											.	OR13G1	78	.	0			c.G565C						PASS	.	C	LEU/VAL	45,4361	47.5+/-82.1	1,43,2159	87	86	86		565	0	0	1	dbSNP_129	86	423,8177	131.3+/-189.1	12,399,3889	yes	missense	OR13G1	NM_001005487.1	32	13,442,6048	GG,GC,CC		4.9186,1.0213,3.5983	possibly-damaging	189/308	247835779	468,12538	2203	4300	6503	SO:0001583	missense	441933	exon1			TTCTTACAGGGCT	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.565G>C	1.37:g.247835779C>G	ENSP00000352717:p.Val189Leu	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	229	130	0.567686	NM_001005487	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	60	0.027472527472527472	2	0.0040650406504065045	20	0.055248618784530384	0	0.0	38	0.05013192612137203	C	11.76	1.733440	0.30684	0.010213	0.049186	ENSG00000197437	ENST00000359688	T	0.00084	8.75	4.2	0.00648	0.14067	GPCR, rhodopsin-like superfamily (1);	0.394146	0.18431	N	0.141430	T	0.00012	0.0000	N	0.20807	0.61	0.09310	N	1	B	0.34290	0.447	B	0.43194	0.411	T	0.26292	-1.0107	10	0.87932	D	0	-29.6394	5.3384	0.15971	0.0:0.5834:0.1476:0.269	rs56096718;rs61997175	189	Q8NGZ3	O13G1_HUMAN	L	189	ENSP00000352717:V189L	ENSP00000352717:V189L	V	-	1	0	OR13G1	245902402	0.000000	0.05858	0.000000	0.03702	0.701000	0.40568	-0.056000	0.11787	-0.080000	0.12685	0.563000	0.77884	GTA	C|0.956;G|0.044	0.044	strong		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		G	247835779	C	G	247835779	3	3	23	1	0	0	0	0	1	0	0	0	10942	478	17	4	362	4	OR13G1	1	247835779	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	66027	247835779	1414842	511	16967										
OR6F1	343169	hgsc.bcm.edu	37	chr1	247875314	247875314	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggacccataccaaatgagCaccacggtgagatgcgagga	13	10	0	2	rs41268353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247875314C>A	ENST00000302084.2	-	1	791	c.744G>T	c.(742-744)gtG>gtT	p.V248V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCAAATGAGCACCACGGTGA	0.532													C|||	168	0.0335463	0.0045	0.0634	5008	,	,		21606	0.002		0.0736	False		,,,				2504	0.0429				p.V248V		Atlas-SNP	.											.	OR6F1	88	.	0			c.G744T						PASS	.	C		57,4349	55.5+/-91.7	1,55,2147	109	100	103		744	0.3	0.1	1	dbSNP_127	103	618,7982	161.6+/-214.5	26,566,3708	no	coding-synonymous	OR6F1	NM_001005286.1		27,621,5855	AA,AC,CC		7.186,1.2937,5.1899		248/309	247875314	675,12331	2203	4300	6503	SO:0001819	synonymous_variant	343169	exon1			AATGAGCACCACG	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.744G>T	1.37:g.247875314C>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	126	77	0.611111	NM_001005286	B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	CCDS31095.1																																																																																			C|0.948;A|0.052	0.052	strong		0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		A	247875314	C	A	247875314	2	1	23	1	0	0	0	0	0	0	0	1	11201	697	25	4		4	OR6F1	1	247875314	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39535	247875314	1375307	512	16968										
OR6F1	343169	hgsc.bcm.edu	37	chr1	247875415	247875415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgtacacataggagacaaAggtgatgaggcatgaactca	12	6	1	4	rs2282316	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247875415A>G	ENST00000302084.2	-	1	690	c.643T>C	c.(643-645)Ttt>Ctt	p.F215L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	215			F -> L (in dbSNP:rs2282316).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F215L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGGAGACAAAGGTGATGAGG	0.552													G|||	1763	0.352037	0.6929	0.2017	5008	,	,		22569	0.2401		0.2058	False		,,,				2504	0.2638				p.F215L		Atlas-SNP	.											OR6F1,NS,carcinoma,0,1	OR6F1	88	1	1	Substitution - Missense(1)	stomach(1)	c.T643C						PASS	.	G	LEU/PHE	2663,1743	519.4+/-370.0	775,1113,315	132	116	122		643	-1.8	0	1	dbSNP_100	122	1976,6624	722.5+/-406.4	219,1538,2543	yes	missense	OR6F1	NM_001005286.1	22	994,2651,2858	GG,GA,AA		22.9767,39.5597,35.6682	benign	215/309	247875415	4639,8367	2203	4300	6503	SO:0001583	missense	343169	exon1			AGACAAAGGTGAT	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.643T>C	1.37:g.247875415A>G	ENSP00000305640:p.Phe215Leu	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	132	86	0.651515	NM_001005286	B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	708	0.3241758241758242	342	0.6951219512195121	88	0.2430939226519337	130	0.22727272727272727	148	0.19525065963060687	G	0.007	-1.995955	0.00435	0.604403	0.229767	ENSG00000169214	ENST00000302084	T	0.00017	9.09	3.72	-1.83	0.07833	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	N	0.004102	T	0.00012	0.0000	N	0.00329	-1.635	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50541	-0.8816	9	0.15066	T	0.55	-10.0518	2.2613	0.04068	0.3244:0.121:0.4315:0.1232	rs2282316;rs56501180;rs60719956;rs2282316	215	Q8NGZ6	OR6F1_HUMAN	L	215	ENSP00000305640:F215L	ENSP00000305640:F215L	F	-	1	0	OR6F1	245942038	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.023000	0.03607	-0.547000	0.06207	-1.054000	0.02325	TTT	A|0.635;G|0.365	0.365	strong		0.552	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		G	247875415	A	G	247875415	3	3	23	1	0	0	0	0	1	0	0	0	11201	72	3	3	287	3	OR6F1	1	247875415	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	101	247875415	1375206	513	16969										
OR6F1	343169	hgsc.bcm.edu	37	chr1	247875608	247875608	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaatggccacgaaaccacaCacccaggagcccagggccag	11	16	0	0	rs6587382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247875608C>G	ENST00000302084.2	-	1	497	c.450G>C	c.(448-450)gtG>gtC	p.V150V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V150V(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CGAAACCACACACCCAGGAGC	0.582													G|||	1634	0.326278	0.6067	0.2118	5008	,	,		19859	0.2232		0.2316	False		,,,				2504	0.2321				p.V150V		Atlas-SNP	.											OR6F1,NS,carcinoma,-2,3	OR6F1	88	3	1	Substitution - coding silent(1)	stomach(1)	c.G450C						scavenged	.	G		2357,2049	568.1+/-382.3	602,1153,448	66	74	71		450	-4	0	1	dbSNP_116	71	2202,6398	710.9+/-405.8	286,1630,2384	no	coding-synonymous	OR6F1	NM_001005286.1		888,2783,2832	GG,GC,CC		25.6047,46.5048,35.0531		150/309	247875608	4559,8447	2203	4300	6503	SO:0001819	synonymous_variant	343169	exon1			ACCACACACCCAG	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.450G>C	1.37:g.247875608C>G		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	133	89	0.669173	NM_001005286	B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	CCDS31095.1																																																																																			C|0.661;G|0.339	0.339	strong		0.582	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		G	247875608	C	G	247875608	2	3	23	1	0	0	0	0	0	0	0	1	11201	465	17	4		4	OR6F1	1	247875608	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	193	247875608	1375013	514	16970										
OR1C1	26188	hgsc.bcm.edu	37	chr1	247921412	247921412	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaacgaagaagaagagctgGgtgaggcagcctgcaaaaga	15	6	0	5	rs41304163	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:247921412G>C	ENST00000408896.2	-	1	570	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	99					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAAGAGCTGGGTGAGGCAGC	0.463													g|||	155	0.0309505	0.0197	0.0533	5008	,	,		21292	0.001		0.0626	False		,,,				2504	0.0286				p.T99T		Atlas-SNP	.											.	OR1C1	86	.	0			c.C297G						PASS	.			91,3817		1,89,1864	55	52	53		297	-6.4	0	1	dbSNP_127	53	510,7782		18,474,3654	no	coding-synonymous	OR1C1	NM_012353.2		19,563,5518	CC,CG,GG		6.1505,2.3286,4.9262		99/315	247921412	601,11599	1954	4146	6100	SO:0001819	synonymous_variant	26188	exon1			GAGCTGGGTGAGG	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.297C>G	1.37:g.247921412G>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	158	94	0.594937	NM_012353	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	CCDS41481.1																																																																																			G|0.952;C|0.048	0.048	strong		0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			C	247921412	G	C	247921412	2	2	23	1	0	0	0	0	0	0	0	1	10952	1219	43	4		4	OR1C1	1	247921412	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	45804	247921412	1329209	515	16971										
TRIM58	25893	hgsc.bcm.edu	37	chr1	248023966	248023966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaggaaagagttggaggaCgccttgactcaggaggccaa	15	7	1	3	rs3737277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248023966C>T	ENST00000366481.3	+	2	516	c.468C>T	c.(466-468)gaC>gaT	p.D156D		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	156						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTTGGAGGACGCCTTGACTC	0.483													C|||	1288	0.257188	0.3298	0.268	5008	,	,		19154	0.1885		0.2744	False		,,,				2504	0.2045				p.D156D		Atlas-SNP	.											.	TRIM58	143	.	0			c.C468T						PASS	.	C		1463,2943	471.7+/-356.1	243,977,983	106	103	104		468	-7.8	0	1	dbSNP_107	104	2429,6171	402.2+/-347.4	345,1739,2216	no	coding-synonymous	TRIM58	NM_015431.3		588,2716,3199	TT,TC,CC		28.2442,33.2047,29.9247		156/487	248023966	3892,9114	2203	4300	6503	SO:0001819	synonymous_variant	25893	exon2			GGAGGACGCCTTG	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.468C>T	1.37:g.248023966C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	159	52	0.327044	NM_015431	Q6B0H9	Silent	SNP	ENST00000366481.3	37	CCDS1636.1																																																																																			C|0.716;T|0.284	0.284	strong		0.483	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248023966	C	T	248023966	2	4	23	1	0	0	0	0	0	0	0	1	16528	535	19	1		1	TRIM58	1	248023966	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	102554	248023966	1226655	516	16972										
OR2T8	343172	hgsc.bcm.edu	37	chr1	248084470	248084471	+	Frame_Shift_Ins	INS	-	-	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcctgattcactgggaccINSaccggctccacacgcccatg					rs140846339|rs149623571|rs547311711	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248084470_248084471insG	ENST00000319968.4	+	1	151_152	c.151_152insG	c.(151-153)cacfs	p.H51fs		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H51D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCACTGGGACCACCGGCTCCAC	0.535																																					p.H51fs		Atlas-Indel	.											OR2T8,rectum,carcinoma,0,2	OR2T8	67	2	1	Substitution - Missense(1)	large_intestine(1)	c.151_152insG						PASS	.																																			SO:0001589	frameshift_variant	343172	exon1			.		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	Exception_encountered	1.37:g.248084470_248084471insG	ENSP00000326225:p.His51fs	Somatic	726	0	0		WXS	Illumina HiSeq	Phase_I	441	69	0.156463	NM_001005522		Frame_Shift_Ins	INS	ENST00000319968.4	37	CCDS31100.1																																																																																			.	.	none		0.535	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		G	248084471	-	G	248084470	7	5	23	1	0	1	1	0	0	0	0	0	11030	594	21	0	153	0	OR2T8	1	248084470	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	60504	248084470	1166151	517	16973	364	2								
OR2T8	343172	hgsc.bcm.edu	37	chr1	248084473	248084473	+	Silent	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgattcactgggaccacCggctccacacgcccatgtac					rs143274587	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248084473C>A	ENST00000319968.4	+	1	154	c.154C>A	c.(154-156)Cgg>Agg	p.R52R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGGACCACCGGCTCCACAC	0.532													C|||	694	0.138578	0.2247	0.2378	5008	,	,		14789	0.002		0.1571	False		,,,				2504	0.0736				p.R52R		Atlas-SNP	.											OR2T8,NS,carcinoma,-1,1	OR2T8	67	1	0			c.C154A						PASS	.						61	60	60					1																	248084473		2201	4297	6498	SO:0001819	synonymous_variant	343172	exon1			GACCACCGGCTCC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.154C>A	1.37:g.248084473C>A		Somatic	703	0	0		WXS	Illumina HiSeq	Phase_I	433	175	0.404157	NM_001005522		Silent	SNP	ENST00000319968.4	37	CCDS31100.1																																																																																			C|0.887;A|0.113	0.113	strong		0.532	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		A	248084473	C	A	248084473	2	1	23	1	0	0	0	0	0	0	0	1	11030	643	23	4		4	OR2T8	1	248084473	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3	248084473	1166148	518	16974	364	2								
OR2L8	391190	hgsc.bcm.edu	37	chr1	248112915	248112915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagtaactttctactatgcAccttttgtctacacttatct	4	10	3	0	rs10888280	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248112915A>G	ENST00000357191.3	+	1	756	c.756A>G	c.(754-756)gcA>gcG	p.A252A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TCTACTATGCACCTTTTGTCT	0.478													A|||	1552	0.309904	0.1354	0.3458	5008	,	,		21316	0.4216		0.2952	False		,,,				2504	0.4202				p.A252A		Atlas-SNP	.											OR2L8,right_upper_lobe,carcinoma,+1,1	OR2L8	92	1	0			c.A756G						scavenged	.	A	,	673,3733		48,577,1578	142	102	115		756,	0.6	0.2	1	dbSNP_120	115	2622,5974		396,1830,2072	no	coding-synonymous,intron	OR2L13,OR2L8	NM_001001963.1,NM_175911.2	,	444,2407,3650	GG,GA,AA		30.5026,15.2746,25.3423	,	252/313,	248112915	3295,9707	2203	4298	6501	SO:0001819	synonymous_variant	391190	exon1			CTATGCACCTTTT	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.756A>G	1.37:g.248112915A>G		Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	372	120	0.322581	NM_001001963	Q6IF03	Silent	SNP	ENST00000357191.3	37	CCDS31101.1																																																																																			.	.	weak		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			G	248112915	A	G	248112915	2	3	23	1	0	0	0	0	0	0	0	1	11009	146	6	2		2	OR2L8	1	248112915	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	28442	248112915	1137706	519	16975										
OR2AK2	391191	hgsc.bcm.edu	37	chr1	248128929	248128929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgcccaagatggcagtcaGcttcctctcacagagtaaga	10	11	2	3	rs6664332	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248128929G>A	ENST00000366480.3	+	1	395	c.296G>A	c.(295-297)aGc>aAc	p.S99N	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	99			S -> N (in dbSNP:rs6664332).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			ATGGCAGTCAGCTTCCTCTCA	0.483													.|||	1861	0.371605	0.2882	0.3646	5008	,	,		20363	0.4633		0.328	False		,,,				2504	0.4397				p.S99N	Melanoma(45;390 1181 23848 28461 41504)	Atlas-SNP	.											.	OR2AK2	90	.	0			c.G296A						PASS	.	A	ASN/SER,	1281,3125		189,903,1111	232	204	214		296,	1.9	0	1	dbSNP_116	214	2872,5728		471,1930,1899	yes	missense,intron	OR2L13,OR2AK2	NM_001004491.1,NM_175911.2	46,	660,2833,3010	AA,AG,GG		33.3953,29.074,31.9314	benign,	99/336,	248128929	4153,8853	2203	4300	6503	SO:0001583	missense	391191	exon1			CAGTCAGCTTCCT	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.296G>A	1.37:g.248128929G>A	ENSP00000355436:p.Ser99Asn	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	225	84	0.373333	NM_001004491	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	776	0.3553113553113553	131	0.266260162601626	140	0.3867403314917127	252	0.4405594405594406	253	0.3337730870712401	.	0.010	-1.794300	0.00617	0.29074	0.333953	ENSG00000187080	ENST00000366480	T	0.01126	5.3	3.15	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.00337	-1.62	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	8	0.07813	T	0.8	.	2.7483	0.05273	0.4798:0.0:0.1224:0.3979	rs6664332;rs58317680;rs6664332	99	Q8NG84	O2AK2_HUMAN	N	99	ENSP00000355436:S99N	ENSP00000355436:S99N	S	+	2	0	OR2AK2	246195552	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.001000	0.13038	-0.026000	0.13895	-0.556000	0.04195	AGC	G|0.663;A|0.337	0.337	strong		0.483	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		A	248128929	G	A	248128929	3	1	23	1	0	0	0	0	1	0	0	0	10986	971	34	2	298	2	OR2AK2	1	248128929	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16014	248128929	1121692	520	16976										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224746	248224746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttctactatgcaccttttGtctacacttatctacgtcca	3	13	3	0	rs6697812	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248224746G>T	ENST00000359959.3	+	1	763	c.763G>T	c.(763-765)Gtc>Ttc	p.V255F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCACCTTTTGTCTACACTTA	0.493													g|||	137	0.0273562	0.0068	0.0432	5008	,	,		20709	0.0		0.0905	False		,,,				2504	0.0072				p.V255F		Atlas-SNP	.											.	OR2L3	97	.	0			c.G763T						PASS	.	G	PHE/VAL,	60,4346	58.1+/-94.6	0,60,2143	125	118	120		763,	-4	0	1	dbSNP_116	120	756,7838	177.5+/-227.1	32,692,3573	no	missense,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	50,	32,752,5716	TT,TG,GG		8.7968,1.3618,6.2769	benign,	255/313,	248224746	816,12184	2203	4297	6500	SO:0001583	missense	391192	exon1			CCTTTTGTCTACA	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.763G>T	1.37:g.248224746G>T	ENSP00000353044:p.Val255Phe	Somatic	290	1	0.00344828		WXS	Illumina HiSeq	Phase_I	365	203	0.556164	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	73	0.033424908424908424	5	0.01016260162601626	16	0.04419889502762431	0	0.0	52	0.06860158311345646	G	0.008	-1.882849	0.00532	0.013618	0.087968	ENSG00000198128	ENST00000359959	T	0.36878	1.23	2.01	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	1.925040	0.04254	N	0.339066	T	0.00384	0.0012	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.06588	-1.0818	10	0.24483	T	0.36	.	1.0083	0.01492	0.2749:0.1294:0.3575:0.2383	rs6697812	255	Q8NG85	OR2L3_HUMAN	F	255	ENSP00000353044:V255F	ENSP00000353044:V255F	V	+	1	0	OR2L3	246291369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.951000	0.00048	-2.222000	0.00727	-3.156000	0.00058	GTC	.	.	weak		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224746	G	T	248224746	3	4	23	1	0	0	0	0	1	0	0	0	11008	1377	48	4	765	4	OR2L3	1	248224746	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	95817	248224746	1025875	521	16977										
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813271	248813271	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgaggacacacacctcccCacaaccttctgtagggcccc	7	19	1	1	rs2802081	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248813271C>A	ENST00000344889.3	-	1	914	c.915G>T	c.(913-915)gtG>gtT	p.V305V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACCTCCCCACAACCTTCT	0.443													c|||	332	0.0662939	0.025	0.0749	5008	,	,		20910	0.0615		0.1074	False		,,,				2504	0.0787				p.V305V		Atlas-SNP	.											.	OR2T27	52	.	0			c.G915T						PASS	.						65	69	68					1																	248813271		2180	4274	6454	SO:0001819	synonymous_variant	403239	exon1			CCTCCCCACAACC		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.915G>T	1.37:g.248813271C>A		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	399	59	0.14787	NM_001001824		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																			C|0.779;A|0.221	0.221	strong		0.443	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813271	C	A	248813271	2	1	23	1	0	0	0	0	0	0	0	1	11021	581	21	4		4	OR2T27	1	248813271	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	588525	248813271	437350	522	16978										
OR2T27	403239	hgsc.bcm.edu	37	chr1	248813785	248813785	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatcttgcggctcatgaggAcaggatagtgcagagggttg	16	6	2	3	rs200036975	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr1:248813785A>T	ENST00000344889.3	-	1	400	c.401T>A	c.(400-402)gTc>gAc	p.V134D		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCATGAGGACAGGATAGTG	0.557																																					p.V134D		Atlas-SNP	.											OR2T27,bladder,carcinoma,0,1	OR2T27	52	1	0			c.T401A						scavenged	.						88	56	67					1																	248813785		2200	4256	6456	SO:0001583	missense	403239	exon1			ATGAGGACAGGAT		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.401T>A	1.37:g.248813785A>T	ENSP00000342008:p.Val134Asp	Somatic	321	1	0.00311526		WXS	Illumina HiSeq	Phase_I	610	210	0.344262	NM_001001824		Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	8.174	0.792423	0.16258	.	.	ENSG00000187701	ENST00000344889	T	0.00892	5.57	2.74	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.441698	0.16541	N	0.209937	T	0.00875	0.0029	.	.	.	0.09310	N	1	B	0.22541	0.071	B	0.22601	0.04	T	0.47761	-0.9092	9	0.72032	D	0.01	.	5.1307	0.14909	0.6126:0.0:0.3874:0.0	rs1782240	134	Q8NH04	O2T27_HUMAN	D	134	ENSP00000342008:V134D	ENSP00000342008:V134D	V	-	2	0	OR2T27	246880408	0.000000	0.05858	0.003000	0.11579	0.051000	0.14879	-0.404000	0.07205	0.438000	0.26450	0.163000	0.16589	GTC	A|0.863;T|0.137	0.137	strong		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		T	248813785	A	T	248813785	3	4	23	1	0	0	0	0	1	0	0	0	11021	275	10	5	555	5	OR2T27	1	248813785	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	514	248813785	436836	523	16979										
SNTG2	54221	hgsc.bcm.edu	37	chr2	1168781	1168781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttgttttgctgcagggtCcccagggccatccagcgacc	11	15	1	0	rs28505970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1168781C>A	ENST00000308624.5	+	8	632	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	168			S -> Y (in dbSNP:rs28505970).		central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S168Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTGCAGGGTCCCCAGGGCCA	0.532													C|||	1033	0.20627	0.3608	0.098	5008	,	,		17456	0.1042		0.169	False		,,,				2504	0.2178				p.S168Y		Atlas-SNP	.											SNTG2,NS,carcinoma,0,1	SNTG2	125	1	1	Substitution - Missense(1)	stomach(1)	c.C503A						scavenged	.	C	TYR/SER	1210,2802		192,826,988	115	122	120		503	4.6	1	2	dbSNP_125	120	1260,7098		95,1070,3014	yes	missense	SNTG2	NM_018968.3	144	287,1896,4002	AA,AC,CC		15.0754,30.1595,19.9677	probably-damaging	168/540	1168781	2470,9900	2006	4179	6185	SO:0001583	missense	54221	exon8			CAGGGTCCCCAGG	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.503C>A	2.37:g.1168781C>A	ENSP00000311837:p.Ser168Tyr	Somatic	96	2	0.0208333		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_018968	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	390	0.17857142857142858	173	0.3516260162601626	35	0.09668508287292818	55	0.09615384615384616	127	0.16754617414248021	C	14.49	2.550271	0.45383	0.301595	0.150754	ENSG00000172554	ENST00000308624	T	0.54866	0.55	4.58	4.58	0.56647	.	0.062085	0.64402	D	0.000003	T	0.00012	0.0000	M	0.72479	2.2	0.09310	P	1.0	D	0.76494	0.999	D	0.83275	0.996	T	0.06023	-1.0850	9	0.66056	D	0.02	.	15.1671	0.72837	0.0:1.0:0.0:0.0	rs28505970	168	Q9NY99	SNTG2_HUMAN	Y	168	ENSP00000311837:S168Y	ENSP00000311837:S168Y	S	+	2	0	SNTG2	1158781	1.000000	0.71417	0.974000	0.42286	0.065000	0.16274	4.969000	0.63735	2.067000	0.61834	0.643000	0.83706	TCC	C|0.822;A|0.178	0.178	strong		0.532	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		A	1168781	C	A	1168781	3	1	23	1	0	0	0	0	1	0	0	0	14875	855	30	4	533	4	SNTG2	2	1168781	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10		1168781	242030592	524	16980										
TPO	7173	hgsc.bcm.edu	37	chr2	1418192	1418192	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattttagaatgagagcgctCgctgtgctgtctgtcacgct	11	9	2	2	rs9678281	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1418192C>G	ENST00000345913.4	+	2	103	c.12C>G	c.(10-12)ctC>ctG	p.L4L	TPO_ENST00000382269.3_Silent_p.L4L|TPO_ENST00000382198.1_Silent_p.L4L|TPO_ENST00000346956.3_Silent_p.L4L|TPO_ENST00000382201.3_Silent_p.L4L|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.L4L|TPO_ENST00000539820.1_Silent_p.L4L|TPO_ENST00000329066.4_Silent_p.L4L|TPO_ENST00000337415.3_Silent_p.L4L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	4					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGAGAGCGCTCGCTGTGCTGT	0.512													C|||	1561	0.311701	0.2769	0.3703	5008	,	,		16931	0.2361		0.3887	False		,,,				2504	0.316				p.L4L		Atlas-SNP	.											TPO,colon,carcinoma,0,1	TPO	224	1	0			c.C12G						PASS	.	C	,,,,,	1280,3126	431.4+/-342.9	186,908,1109	76	73	74		12,12,12,12,12,12	-10.3	0	2	dbSNP_119	74	3341,5259	494.8+/-373.9	662,2017,1621	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	848,2925,2730	GG,GC,CC		38.8488,29.0513,35.5298	,,,,,	4/934,4/934,4/877,4/877,4/890,4/761	1418192	4621,8385	2203	4300	6503	SO:0001819	synonymous_variant	7173	exon2			AGCGCTCGCTGTG		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.12C>G	2.37:g.1418192C>G		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	129	122	0.945736	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1																																																																																			C|0.654;G|0.346;T|0.000	0.346	strong		0.512	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		G	1418192	C	G	1418192	2	3	23	1	0	0	0	0	0	0	0	1	16407	871	31	4		4	TPO	2	1418192	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	249411	1418192	241781181	525	16981										
TPO	7173	hgsc.bcm.edu	37	chr2	1497803	1497803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatgaaggctctgcgggaCggtgactggtacgttcctat	14	9	1	3	rs1126797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1497803C>T	ENST00000345913.4	+	11	2089	c.1998C>T	c.(1996-1998)gaC>gaT	p.D666D	TPO_ENST00000337415.3_Silent_p.D666D|TPO_ENST00000329066.4_Silent_p.D666D|TPO_ENST00000382198.1_Silent_p.D493D|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.D609D|TPO_ENST00000349624.3_Silent_p.D493D|TPO_ENST00000346956.3_Silent_p.D666D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	666					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCGGGACGGTGACTGGT	0.572													C|||	1798	0.359026	0.3147	0.3689	5008	,	,		17099	0.4067		0.3688	False		,,,				2504	0.3528				p.D666D		Atlas-SNP	.											.	TPO	224	.	0			c.C1998T						PASS	.	C	,,,,,	1419,2987	464.2+/-353.8	227,965,1011	89	86	87		1998,1998,1827,1827,1998,1479	-9.6	0.1	2	dbSNP_86	87	3140,5460	477.6+/-369.7	555,2030,1715	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	782,2995,2726	TT,TC,CC		36.5116,32.2061,35.0531	,,,,,	666/934,666/934,609/877,609/877,666/890,493/761	1497803	4559,8447	2203	4300	6503	SO:0001819	synonymous_variant	7173	exon11			GCGGGACGGTGAC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1998C>T	2.37:g.1497803C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	104	58	0.557692	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1	823	0.3768315018315018	166	0.33739837398373984	137	0.3784530386740331	248	0.43356643356643354	272	0.35883905013192613	C	0.096	-1.159934	0.01686	0.322061	0.365116	ENSG00000115705	ENST00000446278	.	.	.	4.84	-9.63	0.00544	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.17531	-1.0366	3	.	.	.	-31.7375	9.8612	0.41116	0.2006:0.1257:0.0:0.6737	rs1126797;rs3182052;rs17415659;rs17731853;rs59472239;rs17415659	.	.	.	M	141	.	.	T	+	2	0	TPO	1476810	0.000000	0.05858	0.103000	0.21229	0.038000	0.13279	-4.038000	0.00308	-1.948000	0.01033	-0.995000	0.02519	ACG	A|0.000;C|0.646;G|0.000;T|0.354	0.354	strong		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1497803	C	T	1497803	2	4	23	1	0	0	0	0	0	0	0	1	16407	535	19	1		1	TPO	2	1497803	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	79611	1497803	241701570	526	16982										
TPO	7173	hgsc.bcm.edu	37	chr2	1499899	1499899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaagtcggcaaattcccCgaagactttgagtcttgtga	9	10	1	3	rs732608	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1499899C>T	ENST00000345913.4	+	12	2236	c.2145C>T	c.(2143-2145)ccC>ccT	p.P715P	TPO_ENST00000337415.3_Silent_p.P715P|TPO_ENST00000329066.4_Silent_p.P715P|TPO_ENST00000382198.1_Silent_p.P542P|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Silent_p.P658P|TPO_ENST00000349624.3_Silent_p.P542P|TPO_ENST00000346956.3_Silent_p.P715P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	715					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAAATTCCCCGAAGACTTTG	0.557													C|||	2198	0.438898	0.4349	0.4265	5008	,	,		14667	0.4087		0.4016	False		,,,				2504	0.5225				p.P715P		Atlas-SNP	.											TPO,NS,malignant_melanoma,+2,2	TPO	224	2	0			c.C2145T						PASS	.	C	,,,,,	1945,2461	550.5+/-378.0	434,1077,692	63	62	63		2145,2145,1974,1974,2145,1626	-5.7	0	2	dbSNP_86	63	3427,5173	502.0+/-375.6	672,2083,1545	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	1106,3160,2237	TT,TC,CC		39.8488,44.1443,41.304	,,,,,	715/934,715/934,658/877,658/877,715/890,542/761	1499899	5372,7634	2203	4300	6503	SO:0001819	synonymous_variant	7173	exon12			ATTCCCCGAAGAC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2145C>T	2.37:g.1499899C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1	918	0.42032967032967034	224	0.45528455284552843	152	0.4198895027624309	248	0.43356643356643354	294	0.38786279683377306	C	0.025	-1.379854	0.01204	0.441443	0.398488	ENSG00000115705	ENST00000446278	T	0.72394	-0.65	4.59	-5.71	0.02413	.	0.097704	0.64402	D	0.000001	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999898673	.	.	.	.	.	.	T	0.29971	-0.9994	6	0.87932	D	0	-33.1603	2.7509	0.05280	0.2787:0.1316:0.0891:0.5007	rs732608;rs1042584;rs3182053;rs17731931;rs732608	.	.	.	L	190	ENSP00000400033:P190L	ENSP00000400033:P190L	P	+	2	0	TPO	1478906	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-1.559000	0.02162	-1.146000	0.02854	-1.066000	0.02275	CCG	C|0.585;A|0.003	.	strong		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1499899	C	T	1499899	2	4	23	1	0	0	0	0	0	0	0	1	16407	639	23	1		1	TPO	2	1499899	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2096	1499899	241699474	527	16983										
TPO	7173	hgsc.bcm.edu	37	chr2	1520676	1520676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccgggaggctccctcgggTgacttggatctccatgtcgc	13	14	1	1	rs1126799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1520676T>C	ENST00000345913.4	+	15	2631	c.2540T>C	c.(2539-2541)gTg>gCg	p.V847A	TPO_ENST00000337415.3_Missense_Mutation_p.V847A|TPO_ENST00000329066.4_Missense_Mutation_p.V847A|TPO_ENST00000382198.1_Missense_Mutation_p.V674A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.V790A|TPO_ENST00000349624.3_Missense_Mutation_p.V674A|TPO_ENST00000346956.3_Missense_Mutation_p.V803A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	847			V -> A (in dbSNP:rs1126799). {ECO:0000269|PubMed:12454013, ECO:0000269|PubMed:3453124, ECO:0000269|PubMed:3475693, ECO:0000269|Ref.6}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.V847A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCCTCGGGTGACTTGGATC	0.592													C|||	3325	0.663938	0.8283	0.6037	5008	,	,		18488	0.5833		0.5417	False		,,,				2504	0.6933				p.V847A		Atlas-SNP	.											TPO,NS,carcinoma,0,1	TPO	224	1	1	Substitution - Missense(1)	stomach(1)	c.T2540C						PASS	.	C	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	3398,1008	373.4+/-320.8	1303,792,108	68	71	70		2540,2540,2369,2369,2408,2021	4.6	0.1	2	dbSNP_86	70	4578,4022	555.0+/-386.6	1207,2164,929	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	64,64,64,64,64,64	2510,2956,1037	CC,CT,TT		46.7674,22.8779,38.6745	benign,benign,benign,benign,benign,benign	847/934,847/934,790/877,790/877,803/890,674/761	1520676	7976,5030	2203	4300	6503	SO:0001583	missense	7173	exon15			CTCGGGTGACTTG		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2540T>C	2.37:g.1520676T>C	ENSP00000318820:p.Val847Ala	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1334|1334	0.6108058608058609|0.6108058608058609	388|388	0.7886178861788617|0.7886178861788617	209|209	0.5773480662983426|0.5773480662983426	344|344	0.6013986013986014|0.6013986013986014	393|393	0.5184696569920845|0.5184696569920845	C|C	0.007|0.007	-1.960539|-1.960539	0.00465|0.00465	0.771221|0.771221	0.532326|0.532326	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083|ENST00000446278	T;T;T;T;T;T;T;T;T;T|.	0.68025|.	-0.13;-0.12;-0.06;0.16;-0.12;-0.07;0.16;-0.12;0.71;-0.3|.	5.52|5.52	4.6|4.6	0.57074|0.57074	.|.	1.004770|.	0.08016|.	N|.	0.991268|.	T|.	0.00012|.	0.0000|.	N|N	0.00325|0.00325	-1.645|-1.645	0.42496|0.42496	P|P	0.0070829999999999504|0.0070829999999999504	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.0|.	T|.	0.27157|.	-1.0082|.	9|.	0.02654|.	T|.	1|.	-21.4253|-21.4253	8.8585|8.8585	0.35242|0.35242	0.0:0.7477:0.1631:0.0892|0.0:0.7477:0.1631:0.0892	rs1126799;rs2276703;rs3182055;rs17723536;rs52825202;rs57954584;rs1126799|rs1126799;rs2276703;rs3182055;rs17723536;rs52825202;rs57954584;rs1126799	803;674;790;847|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	A|R	847;847;803;674;847;790;674;732;277;68|322	ENSP00000337263:V847A;ENSP00000318820:V847A;ENSP00000263886:V803A;ENSP00000332044:V674A;ENSP00000329869:V847A;ENSP00000371636:V790A;ENSP00000371633:V674A;ENSP00000405788:V732A;ENSP00000419461:V277A;ENSP00000389659:V68A|.	ENSP00000329869:V847A|.	V|X	+|+	2|1	0|0	TPO|TPO	1499683|1499683	0.164000|0.164000	0.22935|0.22935	0.064000|0.064000	0.19789|0.19789	0.001000|0.001000	0.01503|0.01503	0.609000|0.609000	0.24238|0.24238	1.364000|1.364000	0.46038|0.46038	-0.124000|-0.124000	0.14976|0.14976	GTG|TGA	A|0.003;C|0.612	0.612	strong		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1520676	T	C	1520676	3	2	23	1	0	0	0	0	1	0	0	0	16407	1696	59	2	2594	2	TPO	2	1520676	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20777	1520676	241678697	528	16984										
MYT1L	23040	hgsc.bcm.edu	37	chr2	1893133	1893133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggttgttcatcactgcctgCtgctggggggacatgggctc	15	11	2	0	rs75247762	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:1893133C>T	ENST00000399161.2	-	16	3147	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q	MYT1L_ENST00000428368.2_Silent_p.Q798Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	800					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACTGCCTGCTGCTGGGGGG	0.617													C|||	321	0.0640974	0.0015	0.0504	5008	,	,		15516	0.1994		0.0457	False		,,,				2504	0.0378				p.Q798Q		Atlas-SNP	.											.	MYT1L	241	.	0			c.G2394A						PASS	.	C		40,4030		0,40,1995	59	65	63		2394	2.7	1	2	dbSNP_132	63	441,7897		15,411,3743	no	coding-synonymous	MYT1L	NM_015025.2		15,451,5738	TT,TC,CC		5.289,0.9828,3.8765		798/1185	1893133	481,11927	2035	4169	6204	SO:0001819	synonymous_variant	23040	exon16			TGCCTGCTGCTGG	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2400G>A	2.37:g.1893133C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	108	51	0.472222	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																				C|0.930;T|0.070	0.070	strong		0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1893133	C	T	1893133	2	4	23	1	0	0	0	0	0	0	0	1	10107	796	28	2		2	MYT1L	2	1893133	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	372457	1893133	241306240	529	16985										
TSSC1	7260	hgsc.bcm.edu	37	chr2	3261173	3261173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgtggctgcctgattccaAttccttcggcatcctccaca	7	16	0	1	rs10188932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:3261173A>G	ENST00000382125.4	-	4	505	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L	TSSC1_ENST00000443925.2_Silent_p.L105L|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Silent_p.L132L	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	105										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCTGATTCCAATTCCTTCGGC	0.542													A|||	199	0.0397364	0.0635	0.0115	5008	,	,		18120	0.0079		0.0338	False		,,,				2504	0.0665				p.L105L	Colon(140;1261 1762 4183 34270 49743)	Atlas-SNP	.											.	TSSC1	39	.	0			c.T313C						PASS	.	A		270,4136	151.4+/-185.3	10,250,1943	109	96	100		313	-0.5	0.4	2	dbSNP_119	100	289,8311	106.2+/-167.1	5,279,4016	no	coding-synonymous	TSSC1	NM_003310.2		15,529,5959	GG,GA,AA		3.3605,6.128,4.298		105/388	3261173	559,12447	2203	4300	6503	SO:0001819	synonymous_variant	7260	exon4			ATTCCAATTCCTT	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.313T>C	2.37:g.3261173A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	192	92	0.479167	NM_003310	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																			A|0.960;G|0.040	0.040	strong		0.542	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		G	3261173	A	G	3261173	2	3	23	1	0	0	0	0	0	0	0	1	16663	98	4	2		2	TSSC1	2	3261173	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1368040	3261173	239938200	530	16986										
TTC15	51112	hgsc.bcm.edu	37	chr2	3483205	3483205	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaaggagggggacagcttCaacacacagtgcctcaagct	13	11	2	0	rs6767	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:3483205C>T	ENST00000324266.5	+	12	2376	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Silent_p.F727F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	727					vesicle-mediated transport (GO:0016192)												GGGACAGCTTCAACACACAGT	0.542													T|||	2431	0.485423	0.6006	0.353	5008	,	,		20322	0.4653		0.4185	False		,,,				2504	0.5133				p.F727F		Atlas-SNP	.											.	.	.	.	0			c.C2181T						PASS	.	T		2465,1941	551.2+/-378.2	709,1047,447	65	66	65		2181	-1.1	1	2	dbSNP_52	65	3327,5273	643.8+/-400.0	650,2027,1623	no	coding-synonymous	TTC15	NM_016030.5		1359,3074,2070	TT,TC,CC		38.686,44.0536,44.5333		727/736	3483205	5792,7214	2203	4300	6503	SO:0001819	synonymous_variant	51112	exon12			CAGCTTCAACACA	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.2181C>T	2.37:g.3483205C>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	216	101	0.467593	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1	1015	0.46474358974358976	286	0.5813008130081301	133	0.3674033149171271	281	0.49125874125874125	315	0.4155672823218997	T	9.482	1.098402	0.20552	0.559464	0.38686	ENSG00000171853	ENST00000416918	.	.	.	5.09	-1.12	0.09808	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8795	0.46929	0.0:0.3874:0.0:0.6126	rs6767;rs17680;rs1127120;rs3171903;rs56947181;rs6767	.	.	.	X	114	.	.	Q	+	1	0	TTC15	3462212	0.999000	0.42202	0.968000	0.41197	0.918000	0.54935	0.604000	0.24164	-0.489000	0.06716	-1.213000	0.01624	CAA	C|0.531;T|0.469	0.469	strong		0.542	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3483205	C	T	3483205	2	4	23	1	0	0	0	0	0	0	0	1	16679	825	29	2		2	TTC15	2	3483205	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	222032	3483205	239716168	531	16987										
ADI1	55256	hgsc.bcm.edu	37	chr2	3504687	3504687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtcctccttgtccctcacAtcgaagtacccactgccatc	6	17	1	0	rs9950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:3504687A>G	ENST00000327435.6	-	3	566	c.318T>C	c.(316-318)gaT>gaC	p.D106D	ADI1_ENST00000382093.5_Silent_p.D100D	NM_018269.3	NP_060739.2			acireductone dioxygenase 1									p.D106D(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		TGTCCCTCACATCGAAGTACC	0.537													A|||	2672	0.533546	0.8918	0.451	5008	,	,		19687	0.4484		0.3887	False		,,,				2504	0.3446				p.D106D		Atlas-SNP	.											ADI1,NS,carcinoma,0,1	ADI1	12	1	1	Substitution - coding silent(1)	stomach(1)	c.T318C						scavenged	.	A		3535,871	743.8+/-411.5	1431,673,99	221	165	184		318	-7	0.2	2	dbSNP_52	184	3057,5543	469.8+/-367.7	558,1941,1801	no	coding-synonymous	ADI1	NM_018269.3		1989,2614,1900	GG,GA,AA		35.5465,19.7685,49.3157		106/180	3504687	6592,6414	2203	4300	6503	SO:0001819	synonymous_variant	55256	exon3			CCTCACATCGAAG		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.318T>C	2.37:g.3504687A>G		Somatic	194	2	0.0103093		WXS	Illumina HiSeq	Phase_I	164	76	0.463415	NM_018269		Silent	SNP	ENST00000327435.6	37	CCDS1653.1																																																																																			A|0.473;G|0.527	0.527	strong		0.537	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		G	3504687	A	G	3504687	2	3	23	1	0	0	0	0	0	0	0	1	315	214	8	2		2	ADI1	2	3504687	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21482	3504687	239694686	532	16988										
RRM2	6241	hgsc.bcm.edu	37	chr2	10262859	10262859	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggctgctggagtgagggGtcgcccgtgcaccctgtccc	15	13	0	1	rs72542787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:10262859G>A	ENST00000304567.5	+	0	3				RRM2_ENST00000360566.2_Silent_p.G38G|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2						deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	GGAGTGAGGGGTCGCCCGTGC	0.682													G|||	204	0.0407348	0.0265	0.0418	5008	,	,		12237	0.001		0.0875	False		,,,				2504	0.0521				p.G38G		Atlas-SNP	.											.	RRM2	63	.	0			c.G114A						PASS	.	G		49,1335		1,47,644	27	48	42		114	-4.5	0	2	dbSNP_130	42	325,2855		15,295,1280	no	coding-synonymous	RRM2	NM_001165931.1		16,342,1924	AA,AG,GG		10.2201,3.5405,8.1946		38/450	10262859	374,4190	692	1590	2282	SO:0001623	5_prime_UTR_variant	6241	exon1			TGAGGGGTCGCCC		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.-67G>A	2.37:g.10262859G>A		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	170	96	0.564706	NM_001165931	B2R9B5|J3KP43|Q5WRU7	Silent	SNP	ENST00000304567.5	37	CCDS1669.1																																																																																			G|0.956;A|0.044	0.044	strong		0.682	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			A	10262859	G	A	10262859	1	1	23	0	1	0	0	0	0	0	0	0	13682	1248	44	2		2	RRM2	2	10262859	5'UTR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6758172	10262859	232936514	533	16989										
NBAS	51594	hgsc.bcm.edu	37	chr2	15372562	15372562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaccccttgtccacactggCgtggactgctgcaacaacac	8	15	0	0	rs6710817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:15372562C>T	ENST00000281513.5	-	47	6245	c.6220G>A	c.(6220-6222)Gcc>Acc	p.A2074T	NBAS_ENST00000441750.1_Missense_Mutation_p.A1954T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2074			A -> T (in dbSNP:rs6710817). {ECO:0000269|PubMed:15489334}.		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)		p.A2074T(1)		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						TCCACACTGGCGTGGACTGCT	0.478													C|||	535	0.106829	0.1392	0.1037	5008	,	,		21651	0.1012		0.0636	False		,,,				2504	0.1155				p.A2074T		Atlas-SNP	.											NBAS,NS,carcinoma,0,1	NBAS	246	1	1	Substitution - Missense(1)	stomach(1)	c.G6220A						scavenged	.	C	THR/ALA	581,3825	256.4+/-261.2	47,487,1669	116	86	96		6220	3.9	0.6	2	dbSNP_116	96	595,8005	157.5+/-211.1	25,545,3730	yes	missense	NBAS	NM_015909.2	58	72,1032,5399	TT,TC,CC		6.9186,13.1866,9.042	benign	2074/2372	15372562	1176,11830	2203	4300	6503	SO:0001583	missense	51594	exon47			CACTGGCGTGGAC	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.6220G>A	2.37:g.15372562C>T	ENSP00000281513:p.Ala2074Thr	Somatic	77	2	0.025974		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	227	0.10393772893772894	64	0.13008130081300814	40	0.11049723756906077	75	0.13111888111888112	48	0.0633245382585752	C	6.976	0.550110	0.13374	0.131866	0.069186	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.44881	1.47;1.47;0.91	5.67	3.86	0.44501	.	0.467569	0.26224	N	0.025606	T	0.00178	0.0005	N	0.12182	0.205	0.43637	P	0.003967000000000054	P;B	0.44139	0.827;0.011	B;B	0.31390	0.129;0.004	T	0.09400	-1.0676	9	0.87932	D	0	.	6.2337	0.20750	0.1479:0.7061:0.0:0.146	rs6710817;rs17854714;rs52836783;rs59262520;rs6710817	1954;2074	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1954;2074;166	ENSP00000413201:A1954T;ENSP00000281513:A2074T;ENSP00000392421:A166T	ENSP00000281513:A2074T	A	-	1	0	NBAS	15290013	0.160000	0.22878	0.631000	0.29282	0.309000	0.27889	0.316000	0.19469	0.732000	0.32470	0.655000	0.94253	GCC	C|0.899;T|0.101	0.101	strong		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15372562	C	T	15372562	3	4	23	1	0	0	0	0	1	0	0	0	10186	768	27	1	919	1	NBAS	2	15372562	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5109703	15372562	227826811	534	16990										
NBAS	51594	hgsc.bcm.edu	37	chr2	15378808	15378808	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttacgggcttccacagaCagcttaaaaaaaagaatagt	7	8	1	2	rs34080125	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:15378808C>G	ENST00000281513.5	-	45	5752	c.5727G>C	c.(5725-5727)ctG>ctC	p.L1909L	NBAS_ENST00000441750.1_Silent_p.L1789L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1909					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						CTTCCACAGACAGCTTAAAAA	0.353													C|||	304	0.0607029	0.0439	0.0447	5008	,	,		16253	0.1032		0.0139	False		,,,				2504	0.0992				p.L1909L		Atlas-SNP	.											.	NBAS	246	.	0			c.G5727C						PASS	.	C		208,4198	116.7+/-154.6	10,188,2005	55	56	56		5727	-8.7	0	2	dbSNP_126	56	106,8494	56.8+/-118.0	2,102,4196	no	coding-synonymous	NBAS	NM_015909.2		12,290,6201	GG,GC,CC		1.2326,4.7208,2.4143		1909/2372	15378808	314,12692	2203	4300	6503	SO:0001819	synonymous_variant	51594	exon45			CACAGACAGCTTA	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.5727G>C	2.37:g.15378808C>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	92	49	0.532609	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	120	0.054945054945054944	21	0.042682926829268296	14	0.03867403314917127	76	0.13286713286713286	9	0.011873350923482849	C	0.017	-1.494484	0.01009	0.047208	0.012326	ENSG00000151779	ENST00000442506	.	.	.	5.97	-8.7	0.00851	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	0.999999999962185	.	.	.	.	.	.	T	0.10086	-1.0645	3	.	.	.	.	5.0613	0.14559	0.0854:0.3429:0.0908:0.4809	rs34080125	.	.	.	S	957	.	.	C	-	2	0	NBAS	15296259	0.000000	0.05858	0.003000	0.11579	0.319000	0.28217	-1.046000	0.03525	-2.477000	0.00525	-0.345000	0.07892	TGT	C|0.967;G|0.033	0.033	strong		0.353	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15378808	C	G	15378808	2	3	23	1	0	0	0	0	0	0	0	1	10186	465	17	4		4	NBAS	2	15378808	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6246	15378808	227820565	535	16991										
SDC1	6382	hgsc.bcm.edu	37	chr2	20403949	20403949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggtggaggcagctgtagcCtccaggccggtgggttctgg	19	9	1	0	rs2230924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:20403949C>T	ENST00000254351.4	-	3	496	c.252G>A	c.(250-252)gaG>gaA	p.E84E	SDC1_ENST00000403076.1_Silent_p.E84E|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Silent_p.E84E	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	84					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGCTGTAGCCTCCAGGCCGG	0.642													c|||	871	0.173922	0.1513	0.2421	5008	,	,		14341	0.0843		0.2634	False		,,,				2504	0.1564				p.E84E		Atlas-SNP	.											.	SDC1	32	.	0			c.G252A						PASS	.		,	745,3661		65,615,1523	56	63	61		252,252	-7.7	0	2	dbSNP_98	61	2307,6291		327,1653,2319	no	coding-synonymous,coding-synonymous	SDC1	NM_001006946.1,NM_002997.4	,	392,2268,3842	TT,TC,CC		26.8318,16.9088,23.4697	,	84/311,84/311	20403949	3052,9952	2203	4299	6502	SO:0001819	synonymous_variant	6382	exon3			TGTAGCCTCCAGG	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.252G>A	2.37:g.20403949C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	30	9	0.3	NM_002997	D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																			T|0.225;G|0.000;C|0.775	0.225	strong		0.642	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		T	20403949	C	T	20403949	2	4	23	1	0	0	0	0	0	0	0	1	13951	680	24	2		2	SDC1	2	20403949	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5025141	20403949	222795424	536	16992										
HS1BP3	64342	hgsc.bcm.edu	37	chr2	20818764	20818764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcagaagaggctgggggCggcctgggctggtgtatcgt	21	7	1	2	rs3732149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:20818764C>T	ENST00000304031.3	-	7	1187	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	388			A -> T (in dbSNP:rs3732149). {ECO:0000269|PubMed:15489334}.				phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTGGGGGCGGCCTGGGCT	0.637													C|||	743	0.148363	0.1248	0.1398	5008	,	,		16574	0.0913		0.2048	False		,,,				2504	0.1871				p.A388T		Atlas-SNP	.											.	HS1BP3	33	.	0			c.G1162A						PASS	.	C	THR/ALA	611,3795	265.3+/-266.6	43,525,1635	76	84	81		1162	-1.7	0	2	dbSNP_107	81	1793,6807	321.5+/-315.1	190,1413,2697	yes	missense	HS1BP3	NM_022460.3	58	233,1938,4332	TT,TC,CC		20.8488,13.8675,18.4838	benign	388/393	20818764	2404,10602	2203	4300	6503	SO:0001583	missense	64342	exon7			TGGGGGCGGCCTG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1162G>A	2.37:g.20818764C>T	ENSP00000305193:p.Ala388Thr	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	179	70	0.391061	NM_022460	B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	CCDS1700.1	310	0.14194139194139194	66	0.13414634146341464	59	0.16298342541436464	44	0.07692307692307693	141	0.18601583113456466	C	0.009	-1.802600	0.00611	0.138675	0.208488	ENSG00000118960	ENST00000304031	T	0.20200	2.09	5.84	-1.71	0.08133	.	0.813759	0.10956	N	0.615542	T	0.00012	0.0000	L	0.54323	1.7	0.28058	P	0.9330867	B	0.13594	0.008	B	0.08055	0.003	T	0.41770	-0.9490	9	0.14656	T	0.56	-2.4403	5.7246	0.18006	0.1467:0.3933:0.0:0.46	rs3732149;rs17662808;rs17855692;rs3732149	388	Q53T59	H1BP3_HUMAN	T	388	ENSP00000305193:A388T	ENSP00000305193:A388T	A	-	1	0	HS1BP3	20682245	0.000000	0.05858	0.015000	0.15790	0.064000	0.16182	-1.464000	0.02359	-0.708000	0.05015	-1.202000	0.01658	GCC	C|0.834;T|0.166	0.166	strong		0.637	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		T	20818764	C	T	20818764	3	4	23	1	0	0	0	0	1	0	0	0	7361	768	27	1	20	1	HS1BP3	2	20818764	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	414815	20818764	222380609	537	16993										
APOB	338	hgsc.bcm.edu	37	chr2	21225281	21225281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacatatgggatataatcaCtgaagattgtgttgatctca	8	5	2	3	rs1042034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:21225281C>T	ENST00000233242.1	-	29	13140	c.13013G>A	c.(13012-13014)aGt>aAt	p.S4338N	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4338			S -> N (in dbSNP:rs1042034). {ECO:0000269|PubMed:1979313, ECO:0000269|PubMed:22095935, ECO:0000269|PubMed:2883086, ECO:0000269|PubMed:2932736, ECO:0000269|PubMed:2994225, ECO:0000269|PubMed:3030729, ECO:0000269|PubMed:3464946, ECO:0000269|PubMed:3652907, ECO:0000269|PubMed:3759943, ECO:0000269|PubMed:3763409, ECO:0000269|Ref.6}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATATAATCACTGAAGATTGT	0.279													T|||	3153	0.629593	0.8759	0.7493	5008	,	,		19325	0.2798		0.7823	False		,,,				2504	0.4151				p.S4338N		Atlas-SNP	.											.	APOB	761	.	0			c.G13013A						PASS	.	T	ASN/SER	3708,690	257.0+/-261.6	1562,584,53	28	31	30	http://www.ncbi.nlm.nih.gov/pubmed?term	13013	1.6	0	2	dbSNP_86	30	6721,1869	317.6+/-313.3	2655,1411,229	yes	missense	APOB	NM_000384.2	46	4217,1995,282	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	21.7579,15.6889,19.7028	benign	4338/4564	21225281	10429,2559	2199	4295	6494	SO:0001583	missense	338	exon29			TAATCACTGAAGA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13013G>A	2.37:g.21225281C>T	ENSP00000233242:p.Ser4338Asn	Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	120	119	0.991667	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	1446	0.6620879120879121	415	0.8434959349593496	283	0.7817679558011049	166	0.2902097902097902	582	0.7678100263852242	T	0.140	-1.103068	0.01828	0.843111	0.782421	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36520	1.25	5.41	1.61	0.23674	.	1.173870	0.06125	N	0.669497	T	0.00012	0.0000	N	0.00368	-1.59	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	9	0.02654	T	1	.	5.789	0.18349	0.0:0.269:0.1281:0.6029	rs1042034;rs3181514;rs17041706;rs17240958;rs52829794;rs60186088;rs1042034	4338	P04114	APOB_HUMAN	N	4338	ENSP00000233242:S4338N	ENSP00000233242:S4338N	S	-	2	0	APOB	21078786	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.640000	0.24705	-0.124000	0.11724	-0.516000	0.04426	AGT	C|0.265;T|0.735	0.735	strong		0.279	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21225281	C	T	21225281	3	4	23	1	0	0	0	0	1	0	0	0	785	565	20	2	682	2	APOB	2	21225281	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	406517	21225281	221974092	538	16994										
APOB	338	hgsc.bcm.edu	37	chr2	21225753	21225753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgactttcatatggaattCttgagtaactcgtaccaagc	7	9	2	2	rs1042031	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:21225753C>T	ENST00000233242.1	-	29	12668	c.12541G>A	c.(12541-12543)Gaa>Aaa	p.E4181K	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4181			E -> K (in dbSNP:rs1042031). {ECO:0000269|PubMed:22095935, ECO:0000269|PubMed:2994225, ECO:0000269|PubMed:3030729, ECO:0000269|PubMed:3464946, ECO:0000269|PubMed:3763409, ECO:0000269|PubMed:3841481}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATGGAATTCTTGAGTAACT	0.463													C|||	640	0.127796	0.1611	0.1196	5008	,	,		19930	0.0446		0.2127	False		,,,				2504	0.0869				p.E4181K		Atlas-SNP	.											.	APOB	761	.	0			c.G12541A						PASS	.	C	LYS/GLU	652,3754	277.5+/-273.7	34,584,1585	66	64	64		12541	0.2	0	2	dbSNP_86	64	1508,7092	283.9+/-296.4	137,1234,2929	yes	missense	APOB	NM_000384.2	56	171,1818,4514	TT,TC,CC		17.5349,14.798,16.6077	benign	4181/4564	21225753	2160,10846	2203	4300	6503	SO:0001583	missense	338	exon29			GGAATTCTTGAGT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12541G>A	2.37:g.21225753C>T	ENSP00000233242:p.Glu4181Lys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	108	45	0.416667	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	333	0.15247252747252749	97	0.19715447154471544	58	0.16022099447513813	21	0.03671328671328671	157	0.20712401055408972	C	13.89	2.373145	0.42105	0.14798	0.175349	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00737	5.76	5.99	0.147	0.14838	.	0.748815	0.12158	N	0.494257	T	0.00012	0.0000	L	0.29908	0.895	0.58432	P	8.000000000008E-6	B	0.15141	0.012	B	0.13407	0.009	T	0.33085	-0.9882	9	0.27082	T	0.32	.	5.4344	0.16472	0.0:0.5218:0.1308:0.3473	rs1042031;rs3181511;rs17247312;rs17398356;rs52807383;rs60017641;rs1042031	4181	P04114	APOB_HUMAN	K	4181	ENSP00000233242:E4181K	ENSP00000233242:E4181K	E	-	1	0	APOB	21079258	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.080000	0.11339	-0.260000	0.09418	-0.140000	0.14226	GAA	C|0.848;T|0.152	0.152	strong		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21225753	C	T	21225753	3	4	23	1	0	0	0	0	1	0	0	0	785	922	32	2	1154	2	APOB	2	21225753	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	472	21225753	221973620	539	16995										
APOB	338	hgsc.bcm.edu	37	chr2	21232195	21232195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtctcgtgtatcttctagGgtctctcggaatttggcctt	11	10	4	0	rs693	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:21232195G>A	ENST00000233242.1	-	26	7672	c.7545C>T	c.(7543-7545)acC>acT	p.T2515T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2515					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCTTCTAGGGTCTCTCGGA	0.438													G|||	1257	0.250998	0.2095	0.3775	5008	,	,		21485	0.0615		0.4423	False		,,,				2504	0.2157				p.T2515T		Atlas-SNP	.											.	APOB	761	.	0			c.C7545T						PASS	.	G		1082,3324	391.4+/-328.1	140,802,1261	128	107	114	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7545	3.2	0.9	2	dbSNP_36	114	4301,4299	577.5+/-390.6	1092,2117,1091	no	coding-synonymous	APOB	NM_000384.2		1232,2919,2352	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	49.9884,24.5574,41.3886		2515/4564	21232195	5383,7623	2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			TTCTAGGGTCTCT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7545C>T	2.37:g.21232195G>A		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	202	99	0.490099	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			G|0.665;N|0.000	.	strong		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21232195	G	A	21232195	2	1	23	1	0	0	0	0	0	0	0	1	785	1219	43	2		2	APOB	2	21232195	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6442	21232195	221967178	540	16996										
APOB	338	hgsc.bcm.edu	37	chr2	21232804	21232804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttgacatgctcaagaatGtcatttattctttcaaatga	6	6	4	3	rs386643884|rs1041968	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:21232804G>A	ENST00000233242.1	-	26	7063	c.6936C>T	c.(6934-6936)gaC>gaT	p.D2312D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2312					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCAAGAATGTCATTTATTC	0.348													G|||	1248	0.249201	0.2095	0.3775	5008	,	,		20035	0.0615		0.4423	False		,,,				2504	0.2065				p.D2312D		Atlas-SNP	.											APOB,NS,malignant_melanoma,-2,1	APOB	761	1	0			c.C6936T						PASS	.	G		1032,3374		139,754,1310	116	119	118		6936	-2.2	0	2	dbSNP_86	118	4118,4482		1092,1934,1274	no	coding-synonymous	APOB	NM_000384.2		1231,2688,2584	AA,AG,GG		47.8837,23.4226,39.5971		2312/4564	21232804	5150,7856	2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			AAGAATGTCATTT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6936C>T	2.37:g.21232804G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	145	69	0.475862	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			G|0.640;A|0.360	0.360	strong		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21232804	G	A	21232804	2	1	23	1	0	0	0	0	0	0	0	1	785	1368	48	2		2	APOB	2	21232804	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	609	21232804	221966569	541	16997										
APOB	338	hgsc.bcm.edu	37	chr2	21245813	21245813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactcgtggaagaagttggtGttcatctggaccccactcct	11	11	2	1	rs1801700	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:21245813G>A	ENST00000233242.1	-	18	2833	c.2706C>T	c.(2704-2706)aaC>aaT	p.N902N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	902	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGTTGGTGTTCATCTGGA	0.517													G|||	81	0.0161741	0.0008	0.0231	5008	,	,		18975	0.0		0.0467	False		,,,				2504	0.0174				p.N902N		Atlas-SNP	.											.	APOB	761	.	0			c.C2706T						PASS	.	G		47,4359	48.2+/-83.0	0,47,2156	101	96	98		2706	2.7	1	2	dbSNP_89	98	416,8184	129.2+/-187.3	11,394,3895	no	coding-synonymous	APOB	NM_000384.2		11,441,6051	AA,AG,GG		4.8372,1.0667,3.5599		902/4564	21245813	463,12543	2203	4300	6503	SO:0001819	synonymous_variant	338	exon18			GTTGGTGTTCATC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2706C>T	2.37:g.21245813G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	209	100	0.478469	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			G|0.970;A|0.030	0.030	strong		0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21245813	G	A	21245813	2	1	23	1	0	0	0	0	0	0	0	1	785	1368	48	2		2	APOB	2	21245813	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13009	21245813	221953560	542	16998										
ITSN2	50618	hgsc.bcm.edu	37	chr2	24426581	24426581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatgcagcagcagtcggcGggtcatagggcctttgcttt	13	11	2	0	rs140804905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:24426581G>A	ENST00000355123.4	-	40	5451	c.5008C>T	c.(5008-5010)Cgc>Tgc	p.R1670C	ITSN2_ENST00000361999.3_Missense_Mutation_p.R1643C|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1670					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGTCGGCGGGTCATAGGG	0.507													G|||	4	0.000798722	0.0023	0.0	5008	,	,		16966	0.0		0.001	False		,,,				2504	0.0				p.R1670C		Atlas-SNP	.											.	ITSN2	224	.	0			c.C5008T						PASS	.	G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	82	83	83		5008,4927	4.5	1	2	dbSNP_134	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ITSN2	NM_006277.2,NM_019595.3	180,180	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	probably-damaging,probably-damaging	1670/1698,1643/1671	24426581	6,13000	2203	4300	6503	SO:0001583	missense	50618	exon40			GTCGGCGGGTCAT	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.5008C>T	2.37:g.24426581G>A	ENSP00000347244:p.Arg1670Cys	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	77	32	0.415584	NM_006277	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	G	16.42	3.118003	0.56505	4.54E-4	4.65E-4	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.67523	-0.27;-0.27;-0.27	5.46	4.52	0.55395	C2 calcium/lipid-binding domain, CaLB (1);	0.412335	0.15639	U	0.251972	T	0.69611	0.3130	L	0.54323	1.7	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.869	T	0.73877	-0.3844	10	0.87932	D	0	.	11.956	0.52981	0.0:0.0:0.6677:0.3323	.	1643;1670	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	C	1643;1670;1643	ENSP00000354561:R1643C;ENSP00000347244:R1670C;ENSP00000370250:R1643C	ENSP00000347244:R1670C	R	-	1	0	ITSN2	24280085	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.498000	0.60373	2.735000	0.93741	0.561000	0.74099	CGC	G|0.999;A|0.001	0.001	strong		0.507	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		A	24426581	G	A	24426581	3	1	23	1	0	0	0	0	1	0	0	0	7927	1116	39	1	89	1	ITSN2	2	24426581	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3180768	24426581	218772792	543	16999										
CENPO	79172	hgsc.bcm.edu	37	chr2	25022598	25022598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgagcagatcccgtaaacAgtctgaagagctgcagagcg	13	9	1	5	rs1550116	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:25022598A>G	ENST00000380834.2	+	3	526	c.101A>G	c.(100-102)cAg>cGg	p.Q34R	CENPO_ENST00000473706.1_Missense_Mutation_p.Q28R|CENPO_ENST00000260662.1_Missense_Mutation_p.Q34R			Q9BU64	CENPO_HUMAN	centromere protein O	34			Q -> R (in dbSNP:rs1550116). {ECO:0000269|PubMed:14702039}.		CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCCCGTAAACAGTCTGAAGAG	0.498													A|||	663	0.132388	0.1097	0.1138	5008	,	,		19092	0.2063		0.1461	False		,,,				2504	0.0859				p.Q34R		Atlas-SNP	.											.	CENPO	18	.	0			c.A101G						PASS	.	A	ARG/GLN,ARG/GLN	486,3920	226.5+/-242.0	21,444,1738	89	99	96		83,101	-3.6	0	2	dbSNP_88	96	1275,7325	252.5+/-278.5	85,1105,3110	yes	missense,missense	CENPO	NM_001199803.1,NM_024322.2	43,43	106,1549,4848	GG,GA,AA		14.8256,11.0304,13.5399	benign,benign	28/295,34/301	25022598	1761,11245	2203	4300	6503	SO:0001583	missense	79172	exon3			GTAAACAGTCTGA	AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.101A>G	2.37:g.25022598A>G	ENSP00000370214:p.Gln34Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	114	52	0.45614	NM_024322	B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	ENST00000380834.2	37	CCDS1714.1	332	0.152014652014652	47	0.09552845528455285	54	0.14917127071823205	123	0.21503496503496503	108	0.1424802110817942	A	2.705	-0.270191	0.05716	0.110304	0.148256	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.44482	0.92;0.95;0.92	4.75	-3.63	0.04529	.	0.848021	0.10091	N	0.717152	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26503	-1.0101	9	0.44086	T	0.13	-23.6971	6.5348	0.22346	0.4062:0.1499:0.4439:0.0	rs1550116;rs52799040;rs61143613;rs1550116	28;34	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	R	34;28;34	ENSP00000370214:Q34R;ENSP00000417787:Q28R;ENSP00000260662:Q34R	ENSP00000260662:Q34R	Q	+	2	0	CENPO	24876102	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.288000	0.18939	-0.951000	0.03654	-0.792000	0.03331	CAG	A|0.859;G|0.141	0.141	strong		0.498	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322		G	25022598	A	G	25022598	3	3	23	1	0	0	0	0	1	0	0	0	3239	188	7	3	107	3	CENPO	2	25022598	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	596017	25022598	218176775	544	17000										
ADCY3	109	hgsc.bcm.edu	37	chr2	25064157	25064157	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaccatggccagccccatGaggatggagcagacggcgtg	14	13	0	2	rs2241758	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:25064157G>C	ENST00000260600.5	-	5	2018	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	ADCY3_ENST00000405392.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	389					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCAGCCCCATGAGGATGGAGC	0.637													G|||	354	0.0706869	0.003	0.2118	5008	,	,		17354	0.1012		0.0855	False		,,,				2504	0.0153				p.L389L		Atlas-SNP	.											.	ADCY3	114	.	0			c.C1167G						PASS	.	G		86,4304		2,82,2111	34	36	35		1167	2.7	1	2	dbSNP_98	35	622,7966		15,592,3687	no	coding-synonymous	ADCY3	NM_004036.3		17,674,5798	CC,CG,GG		7.2427,1.959,5.4554		389/1145	25064157	708,12270	2195	4294	6489	SO:0001819	synonymous_variant	109	exon5			CCCCATGAGGATG	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1167C>G	2.37:g.25064157G>C		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	81	47	0.580247	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			G|0.925;C|0.075	0.075	strong		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			C	25064157	G	C	25064157	2	2	23	1	0	0	0	0	0	0	0	1	295	1277	45	4		4	ADCY3	2	25064157	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41559	25064157	218135216	545	17001										
EIF2B4	8890	hgsc.bcm.edu	37	chr2	27590666	27590666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggagagttcttcattaggCggtgttgtgtaatcctgaat	12	6	2	2	rs41288829	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:27590666C>T	ENST00000347454.4	-	8	900	c.729G>A	c.(727-729)ccG>ccA	p.P243P	SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000451130.2_Silent_p.P263P|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000493344.2_Silent_p.P264P|EIF2B4_ENST00000445933.2_Silent_p.P242P	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	243					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATTAGGCGGTGTTGTGT	0.458													C|||	50	0.00998403	0.0015	0.0144	5008	,	,		2100	0.0		0.0328	False		,,,				2504	0.0051				p.P263P		Atlas-SNP	.											.	EIF2B4	48	.	0			c.G789A						PASS	.	C	,,	27,4379	32.6+/-62.9	0,27,2176	101	92	95		729,726,789	-7.1	0.9	2	dbSNP_127	95	213,8387	90.4+/-152.6	2,209,4089	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF2B4	NM_001034116.1,NM_015636.3,NM_172195.3	,,	2,236,6265	TT,TC,CC		2.4767,0.6128,1.8453	,,	243/524,242/523,263/544	27590666	240,12766	2203	4300	6503	SO:0001819	synonymous_variant	8890	exon7			ATTAGGCGGTGTT	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.729G>A	2.37:g.27590666C>T		Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	291	137	0.47079	NM_172195	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Silent	SNP	ENST00000347454.4	37	CCDS33164.1																																																																																			C|0.981;T|0.019	0.019	strong		0.458	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			T	27590666	C	T	27590666	2	4	23	1	0	0	0	0	0	0	0	1	5003	755	27	1		1	EIF2B4	2	27590666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2526509	27590666	215608707	546	17002										
PLB1	151056	hgsc.bcm.edu	37	chr2	28761981	28761981	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctaggtccccagagcatttGtaaacctggtggacctctct	9	13	1	1	rs6753929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:28761981G>C	ENST00000327757.5	+	11	678	c.634G>C	c.(634-636)Gta>Cta	p.V212L	PLB1_ENST00000422425.2_Missense_Mutation_p.V223L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	212	4 X 308-326 AA approximate repeats.		V -> L (in dbSNP:rs6753929).		glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGAGCATTTGTAAACCTGGT	0.557													G|||	999	0.199481	0.0923	0.304	5008	,	,		19379	0.2232		0.2425	False		,,,				2504	0.2014				p.V223L		Atlas-SNP	.											.	PLB1	255	.	0			c.G667C						PASS	.	G	LEU/VAL,LEU/VAL	591,3815	259.2+/-262.9	47,497,1659	129	105	113		667,634	5.7	1	2	dbSNP_116	113	2244,6356	380.3+/-339.6	280,1684,2336	yes	missense,missense	PLB1	NM_001170585.1,NM_153021.4	32,32	327,2181,3995	CC,CG,GG		26.093,13.4135,21.7976	probably-damaging,probably-damaging	223/1448,212/1459	28761981	2835,10171	2203	4300	6503	SO:0001583	missense	151056	exon11			GCATTTGTAAACC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.634G>C	2.37:g.28761981G>C	ENSP00000330442:p.Val212Leu	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	205	106	0.517073	NM_001170585	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	463|463	0.211996336996337|0.211996336996337	52|52	0.10569105691056911|0.10569105691056911	113|113	0.31215469613259667|0.31215469613259667	114|114	0.1993006993006993|0.1993006993006993	184|184	0.24274406332453827|0.24274406332453827	G|G	19.90|19.90	3.912156|3.912156	0.72983|0.72983	0.134135|0.134135	0.26093|0.26093	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.41400	.|1.0;2.21;2.01	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.075093	.|0.52532	.|D	.|0.000077	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.90145|0.90145	3.09|3.09	0.09310|0.09310	P|P	1.0|1.0	.|D;D	.|0.89917	.|1.0;0.995	.|D;D	.|0.87578	.|0.998;0.957	T|T	0.02313|0.02313	-1.1178|-1.1178	4|9	.|0.56958	.|D	.|0.05	-23.1992|-23.1992	15.3191|15.3191	0.74105|0.74105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs6753929;rs52831699;rs59816904;rs6753929|rs6753929;rs52831699;rs59816904;rs6753929	.|223;212	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	F|L	221|167;212;223	.|ENSP00000407076:V167L;ENSP00000330442:V212L;ENSP00000416440:V223L	.|ENSP00000330442:V212L	L|V	+|+	3|1	2|0	PLB1|PLB1	28615485|28615485	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.117000|3.117000	0.50407|0.50407	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	TTG|GTA	A|0.000;C|0.213;G|0.787	0.213	strong		0.557	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			C	28761981	G	C	28761981	3	2	23	1	0	0	0	0	1	0	0	0	12024	1377	48	4	709	4	PLB1	2	28761981	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1171315	28761981	214437392	547	17003										
FAM179A	165186	hgsc.bcm.edu	37	chr2	29246044	29246044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcacgacgtgtgcttggTggtgactggggaggtgaggc	20	7	0	2	rs6721861	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29246044T>C	ENST00000379558.4	+	12	1955	c.1604T>C	c.(1603-1605)gTg>gCg	p.V535A	FAM179A_ENST00000403861.2_Missense_Mutation_p.V480A|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	535			V -> A (in dbSNP:rs6721861).							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGTGCTTGGTGGTGACTGGG	0.632													C|||	2376	0.474441	0.6218	0.3991	5008	,	,		18661	0.7044		0.3191	False		,,,				2504	0.2515				p.V535A		Atlas-SNP	.											FAM179A,NS,carcinoma,0,1	FAM179A	106	1	0			c.T1604C						scavenged	.	C	ALA/VAL	2279,1877		635,1009,434	26	32	30		1604	4.6	0.6	2	dbSNP_116	30	2777,5625		504,1769,1928	yes	missense	FAM179A	NM_199280.2	64	1139,2778,2362	CC,CT,TT		33.0517,45.1636,40.2612	benign	535/1020	29246044	5056,7502	2078	4201	6279	SO:0001583	missense	165186	exon12			GCTTGGTGGTGAC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1604T>C	2.37:g.29246044T>C	ENSP00000368876:p.Val535Ala	Somatic	238	2	0.00840336		WXS	Illumina HiSeq	Phase_I	206	87	0.42233	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	1135	0.5196886446886447	336	0.6829268292682927	153	0.42265193370165743	413	0.722027972027972	233	0.3073878627968338	C	4.363	0.066975	0.08388	0.548364	0.330517	ENSG00000189350	ENST00000379558;ENST00000403861;ENST00000440012	T;T;T	0.14022	2.54;2.54;2.54	5.5	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.095117	0.45867	N	0.000327	T	0.00012	0.0000	N	0.00325	-1.645	0.53688	P	2.199999999996649E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38802	-0.9644	9	0.02654	T	1	.	10.4738	0.44652	0.1336:0.7963:0.0:0.07	rs6721861;rs6721861	480;535	F8W8E4;Q6ZUX3	.;F179A_HUMAN	A	535;480;30	ENSP00000368876:V535A;ENSP00000384699:V480A;ENSP00000396739:V30A	ENSP00000368876:V535A	V	+	2	0	FAM179A	29099548	0.997000	0.39634	0.553000	0.28255	0.740000	0.42216	3.939000	0.56591	0.680000	0.31366	-0.128000	0.14901	GTG	T|0.456;C|0.544	0.544	strong		0.632	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		C	29246044	T	C	29246044	3	2	23	1	0	0	0	0	1	0	0	0	5505	1696	59	2	1646	2	FAM179A	2	29246044	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	484063	29246044	213953329	548	17004										
FAM179A	165186	hgsc.bcm.edu	37	chr2	29274704	29274704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctggcacttcctgaacacCgccaccaggaatggcaccct	8	17	1	1	rs61749512	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29274704C>T	ENST00000379558.4	+	20	3156	c.2805C>T	c.(2803-2805)acC>acT	p.T935T	FAM179A_ENST00000403861.2_Silent_p.T880T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	935										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTGAACACCGCCACCAGGA	0.642													C|||	1129	0.225439	0.1694	0.1859	5008	,	,		16173	0.5099		0.0915	False		,,,				2504	0.1738				p.T935T		Atlas-SNP	.											.	FAM179A	106	.	0			c.C2805T						PASS	.	C		560,3498		30,500,1499	16	19	18		2805	2.8	0	2	dbSNP_129	18	756,7610		34,688,3461	no	coding-synonymous	FAM179A	NM_199280.2		64,1188,4960	TT,TC,CC		9.0366,13.7999,10.5924		935/1020	29274704	1316,11108	2029	4183	6212	SO:0001819	synonymous_variant	165186	exon20			GAACACCGCCACC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2805C>T	2.37:g.29274704C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	167	73	0.437126	NM_199280	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																			C|0.785;T|0.215	0.215	strong		0.642	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29274704	C	T	29274704	2	4	23	1	0	0	0	0	0	0	0	1	5505	639	23	1		1	FAM179A	2	29274704	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28660	29274704	213924669	549	17005										
C2orf71	388939	hgsc.bcm.edu	37	chr2	29294754	29294754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcctatgcccattttgaGagattctctgcctgatgctg	9	12	1	3	rs17744093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29294754G>C	ENST00000331664.5	-	1	2373	c.2374C>G	c.(2374-2376)Ctc>Gtc	p.L792V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	792			L -> V (in dbSNP:rs17744093). {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCCATTTTGAGAGATTCTCTG	0.527													G|||	626	0.125	0.0303	0.1571	5008	,	,		19258	0.1637		0.2137	False		,,,				2504	0.0992				p.L792V		Atlas-SNP	.											.	C2orf71	146	.	0			c.C2374G						PASS	.	G	VAL/LEU	270,3554		9,252,1651	64	65	64		2374	0.5	0	2	dbSNP_123	64	1852,6442		191,1470,2486	yes	missense	C2orf71	NM_001029883.1	32	200,1722,4137	CC,CG,GG		22.3294,7.0607,17.5111	probably-damaging	792/1289	29294754	2122,9996	1912	4147	6059	SO:0001583	missense	388939	exon1			TTTTGAGAGATTC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2374C>G	2.37:g.29294754G>C	ENSP00000332809:p.Leu792Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	44	0.44	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	323	0.1478937728937729	22	0.044715447154471545	59	0.16298342541436464	93	0.16258741258741258	149	0.19656992084432717	G	11.65	1.703088	0.30232	0.070607	0.223294	ENSG00000179270	ENST00000331664	T	0.25085	1.82	5.39	0.524	0.17066	.	0.696719	0.13076	N	0.415662	T	0.00012	0.0000	L	0.59436	1.845	0.80722	P	0.0	P	0.37276	0.589	B	0.33392	0.163	T	0.22977	-1.0201	9	0.33940	T	0.23	-1.8564	2.3117	0.04188	0.4334:0.1197:0.3243:0.1226	rs17744093;rs17744093	792	A6NGG8	CB071_HUMAN	V	792	ENSP00000332809:L792V	ENSP00000332809:L792V	L	-	1	0	C2orf71	29148258	0.033000	0.19621	0.000000	0.03702	0.001000	0.01503	1.734000	0.38166	-0.205000	0.10219	-0.806000	0.03193	CTC	G|0.836;C|0.164	0.164	strong		0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		C	29294754	G	C	29294754	3	2	23	1	0	0	0	0	1	0	0	0	2191	942	33	4	1500	4	C2orf71	2	29294754	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20050	29294754	213904619	550	17006										
C2orf71	388939	hgsc.bcm.edu	37	chr2	29296870	29296870	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagtccttccatatctttCcttttgcctgaagcaggatc	6	12	2	1	rs62132765	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29296870C>T	ENST00000331664.5	-	1	257	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	86					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCATATCTTTCCTTTTGCCTG	0.512													C|||	557	0.111222	0.0129	0.1527	5008	,	,		20671	0.123		0.2137	False		,,,				2504	0.0971				p.R86R		Atlas-SNP	.											C2orf71,rectum,carcinoma,-1,1	C2orf71	146	1	0			c.G258A						scavenged	.	C		189,3673		4,181,1746	213	196	202		258	1.3	0	2	dbSNP_129	202	1854,6434		192,1470,2482	no	coding-synonymous	C2orf71	NM_001029883.1		196,1651,4228	TT,TC,CC		22.3697,4.8938,16.8148		86/1289	29296870	2043,10107	1931	4144	6075	SO:0001819	synonymous_variant	388939	exon1			ATCTTTCCTTTTG		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.258G>A	2.37:g.29296870C>T		Somatic	630	3	0.0047619		WXS	Illumina HiSeq	Phase_I	617	275	0.445705	NM_001029883		Silent	SNP	ENST00000331664.5	37	CCDS42669.1																																																																																			C|0.825;T|0.175	0.175	strong		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		T	29296870	C	T	29296870	2	4	23	1	0	0	0	0	0	0	0	1	2191	854	30	2		2	C2orf71	2	29296870	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2116	29296870	213902503	551	17007										
CLIP4	79745	hgsc.bcm.edu	37	chr2	29356669	29356669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataagagtgattttgaaaacAtcgaaaccaaaaggcaagta	8	5	0	3	rs3100232	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29356669A>G	ENST00000320081.5	+	5	771	c.516A>G	c.(514-516)acA>acG	p.T172T	CLIP4_ENST00000404424.1_Silent_p.T172T|CLIP4_ENST00000401617.2_Silent_p.T65T|CLIP4_ENST00000401605.1_Silent_p.T172T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	172										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTTGAAAACATCGAAACCAA	0.333													A|||	2079	0.415136	0.6747	0.317	5008	,	,		17714	0.3204		0.4006	False		,,,				2504	0.2464				p.T172T		Atlas-SNP	.											.	CLIP4	69	.	0			c.A516G						PASS	.	A		2675,1731	649.3+/-398.9	829,1017,357	101	97	98		516	-2	1	2	dbSNP_103	98	3414,5186	503.0+/-375.8	688,2038,1574	no	coding-synonymous	CLIP4	NM_024692.4		1517,3055,1931	GG,GA,AA		39.6977,39.2873,46.8169		172/706	29356669	6089,6917	2203	4300	6503	SO:0001819	synonymous_variant	79745	exon5			GAAAACATCGAAA	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.516A>G	2.37:g.29356669A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																			A|0.551;G|0.449	0.449	strong		0.333	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		G	29356669	A	G	29356669	2	3	23	1	0	0	0	0	0	0	0	1	3535	204	8	2		2	CLIP4	2	29356669	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	59799	29356669	213842704	552	17008										
CLIP4	79745	hgsc.bcm.edu	37	chr2	29383256	29383256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgttgcgagggggaactccGcctcggagagagagtgttag	17	9	0	2	rs3100246	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29383256G>T	ENST00000320081.5	+	12	1712	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L	CLIP4_ENST00000401605.1_Missense_Mutation_p.R486L|CLIP4_ENST00000401617.2_Missense_Mutation_p.R379L|CLIP4_ENST00000404424.1_Missense_Mutation_p.R486L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	486			R -> L (in dbSNP:rs3100246).							endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGGGAACTCCGCCTCGGAGAG	0.488													G|||	255	0.0509185	0.0091	0.1023	5008	,	,		16976	0.001		0.1441	False		,,,				2504	0.0266				p.R486L		Atlas-SNP	.											.	CLIP4	69	.	0			c.G1457T						PASS	.	G	LEU/ARG	148,4258	101.2+/-139.8	2,144,2057	104	98	100		1457	-8.6	0	2	dbSNP_103	100	1277,7323	255.1+/-280.1	80,1117,3103	yes	missense	CLIP4	NM_024692.4	102	82,1261,5160	TT,TG,GG		14.8488,3.3591,10.9565	benign	486/706	29383256	1425,11581	2203	4300	6503	SO:0001583	missense	79745	exon12			AACTCCGCCTCGG	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1457G>T	2.37:g.29383256G>T	ENSP00000327009:p.Arg486Leu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	131	64	0.48855	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	145	0.06639194139194139	6	0.012195121951219513	41	0.1132596685082873	1	0.0017482517482517483	97	0.1279683377308707	G	14.12	2.440097	0.43326	0.033591	0.148488	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	6.16	-8.63	0.00878	Cytoskeleton-associated protein, Gly-rich domain (2);	0.978007	0.08466	N	0.941749	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	1	B	0.25007	0.116	B	0.22601	0.04	T	0.04140	-1.0974	10	0.33940	T	0.23	.	15.3941	0.74778	0.4545:0.0:0.5455:0.0	rs3100246;rs52833373;rs57545939;rs3100246	486	Q8N3C7	CLIP4_HUMAN	L	486;379;486;486;486;504;446	ENSP00000384242:R486L;ENSP00000385148:R379L;ENSP00000385594:R486L;ENSP00000327009:R486L	ENSP00000327009:R486L	R	+	2	0	CLIP4	29236760	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.044000	0.12023	-1.766000	0.01302	-0.355000	0.07637	CGC	G|0.905;T|0.095	0.095	strong		0.488	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		T	29383256	G	T	29383256	3	4	23	1	0	0	0	0	1	0	0	0	3535	1087	38	4	1499	4	CLIP4	2	29383256	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26587	29383256	213816117	553	17009										
ALK	238	hgsc.bcm.edu	37	chr2	29473982	29473982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catacgcacctgtaggtgtcGgtggctggcaccttccagat	12	12	0	1	rs56017149		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:29473982G>A	ENST00000389048.3	-	12	3099	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	731					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGTAGGTGTCGGTGGCTGGCA	0.622			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.T731T		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,colon,carcinoma,0,1	ALK	533	1	0			c.C2193T						scavenged	.						42	41	41					2																	29473982		2203	4300	6503	SO:0001819	synonymous_variant	238	exon12	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GGTGTCGGTGGCT	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2193C>T	2.37:g.29473982G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.	.	weak		0.622	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29473982	G	A	29473982	2	1	23	1	0	0	0	0	0	0	0	1	525	1103	39	1		1	ALK	2	29473982	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	90726	29473982	213725391	554	17010										
ALK	238	hgsc.bcm.edu	37	chr2	30143499	30143499	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggaaagcagcagcggcagGagccacaggagcccgatggc	17	11	0	0	rs4358080	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:30143499G>C	ENST00000389048.3	-	1	933	c.27C>G	c.(25-27)ctC>ctG	p.L9L	ALK_ENST00000431873.1_Silent_p.L9L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	9					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCAGCGGCAGGAGCCACAGGA	0.736			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				C|||	4476	0.89377	0.8003	0.938	5008	,	,		12200	0.998		0.8837	False		,,,				2504	0.8916				p.L9L		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK	533	.	0			c.C27G						PASS	.	C		2838,380		1249,340,20	3	5	4		27	2.1	1	2	dbSNP_111	4	6073,509		2805,463,23	no	coding-synonymous	ALK	NM_004304.4		4054,803,43	CC,CG,GG		7.7332,11.8086,9.0714		9/1621	30143499	8911,889	1609	3291	4900	SO:0001819	synonymous_variant	238	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CGGCAGGAGCCAC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.27C>G	2.37:g.30143499G>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			G|0.120;C|0.880	0.880	strong		0.736	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		C	30143499	G	C	30143499	2	2	23	1	0	0	0	0	0	0	0	1	525	1161	41	4		4	ALK	2	30143499	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	669517	30143499	213055874	555	17011										
XDH	7498	hgsc.bcm.edu	37	chr2	31606682	31606682	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggcagacaatcataggAaacagcatattcttgaactt	9	8	2	2	rs145596057	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:31606682A>G	ENST00000379416.3	-	10	873	c.825T>C	c.(823-825)ttT>ttC	p.F275F	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	275	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAATCATAGGAAACAGCATAT	0.493													A|||	2	0.000399361	0.0	0.0	5008	,	,		18724	0.0		0.002	False		,,,				2504	0.0				p.F275F	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.T825C						PASS	.	A		1,4405	2.1+/-5.4	0,1,2202	115	101	106		825	0.8	0.9	2	dbSNP_134	106	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	XDH	NM_000379.3		0,15,6488	GG,GA,AA		0.1628,0.0227,0.1153		275/1334	31606682	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	7498	exon10			CATAGGAAACAGC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.825T>C	2.37:g.31606682A>G		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	166	85	0.512048	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																			A|0.999;G|0.001	0.001	strong		0.493	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		G	31606682	A	G	31606682	2	3	23	1	0	0	0	0	0	0	0	1	17423	243	9	2		2	XDH	2	31606682	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1463183	31606682	211592691	556	17012										
NLRC4	58484	hgsc.bcm.edu	37	chr2	32475109	32475109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagtttaatgaagtccagGgcacttgcacaattgggcaa	10	9	0	1	rs455060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:32475109G>A	ENST00000404025.2	-	5	2312	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	NLRC4_ENST00000360906.5_Silent_p.A608A|NLRC4_ENST00000402280.1_Silent_p.A608A|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	608					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A608A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAGTCCAGGGCACTTGCAC	0.433													A|||	2966	0.592252	0.7201	0.6556	5008	,	,		19989	0.4633		0.6173	False		,,,				2504	0.4816				p.A608A		Atlas-SNP	.											NLRC4,NS,carcinoma,0,1	NLRC4	165	1	1	Substitution - coding silent(1)	stomach(1)	c.C1824T						scavenged	.	A	,,	2993,1413	462.6+/-353.3	1022,949,232	125	135	132		1824,1824,1824	-5.5	0.8	2	dbSNP_80	132	5197,3403	502.2+/-375.6	1574,2049,677	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	,,	2596,2998,909	AA,AG,GG		39.5698,32.0699,37.0291	,,	608/1025,608/1025,608/1025	32475109	8190,4816	2203	4300	6503	SO:0001819	synonymous_variant	58484	exon4			GTCCAGGGCACTT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1824C>T	2.37:g.32475109G>A		Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	196	90	0.459184	NM_001199138	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																			G|0.383;A|0.617	0.617	strong		0.433	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		A	32475109	G	A	32475109	2	1	23	1	0	0	0	0	0	0	0	1	10469	1219	43	2		2	NLRC4	2	32475109	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	868427	32475109	210724264	557	17013										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32713706	32713706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagcctgaattctagttcaActggaaacaaagaaaatgga	9	6	2	3	rs2366894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:32713706A>T	ENST00000421745.2	+	42	8154	c.8020A>T	c.(8020-8022)Act>Tct	p.T2674S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2674				T -> S (in Ref. 2; AAF75772). {ECO:0000305}.	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)	p.T2674S(1)		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)					TTCTAGTTCAACTGGAAACAA	0.308													T|||	2809	0.560903	0.708	0.6398	5008	,	,		15225	0.3433		0.6412	False		,,,				2504	0.4479				p.T2674S	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											BIRC6_ENST00000421745,NS,carcinoma,0,3	BIRC6	838	3	1	Substitution - Missense(1)	stomach(1)	c.A8020T						scavenged	.	T	SER/THR	2989,1255		1089,811,222	24	23	23		8020	4.5	1	2	dbSNP_100	23	5250,3014		1754,1742,636	yes	missense	BIRC6	NM_016252.3	58	2843,2553,858	TT,TA,AA		36.4714,29.5712,34.1302	benign	2674/4858	32713706	8239,4269	2122	4132	6254	SO:0001583	missense	57448	exon42			AGTTCAACTGGAA	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.8020A>T	2.37:g.32713706A>T	ENSP00000393596:p.Thr2674Ser	Somatic	320	3	0.009375		WXS	Illumina HiSeq	Phase_I	309	151	0.488673	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	1262	0.5778388278388278	330	0.6707317073170732	246	0.6795580110497238	209	0.36538461538461536	477	0.6292875989445911	T	3.123	-0.180114	0.06380	0.704288	0.635286	ENSG00000115760	ENST00000421745	T	0.73047	-0.71	5.67	4.48	0.54585	.	0.216003	0.40469	N	0.001086	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	9	0.02654	T	1	.	7.3633	0.26758	0.2499:0.0:0.1305:0.6196	rs2366894;rs52828077;rs2366894	2674	Q9NR09	BIRC6_HUMAN	S	2674	ENSP00000393596:T2674S	ENSP00000393596:T2674S	T	+	1	0	BIRC6	32567210	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	1.242000	0.32755	0.402000	0.25451	-0.257000	0.10917	ACT	A|0.424;T|0.576	0.576	strong		0.308	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32713706	A	T	32713706	3	4	23	1	0	0	0	0	1	0	0	0	1438	43	2	5	8186	5	BIRC6	2	32713706	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	238597	32713706	210485667	558	17014										
FAM98A	25940	hgsc.bcm.edu	37	chr2	33820635	33820635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagcacagagtttggtaaaCtcgggggaactggctccagc	13	10	0	1	rs72785999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:33820635C>T	ENST00000238823.8	-	2	263	c.123G>A	c.(121-123)gaG>gaA	p.E41E	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000403368.1_Silent_p.E41E			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	41							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTTTGGTAAACTCGGGGGAAC	0.448													C|||	15	0.00299521	0.0	0.0029	5008	,	,		15482	0.0		0.0099	False		,,,				2504	0.0031				p.E41E		Atlas-SNP	.											.	FAM98A	42	.	0			c.G123A						PASS	.	C		11,4395	17.9+/-39.9	1,9,2193	105	107	106		123	4.1	1	2	dbSNP_130	106	74,8526	42.2+/-99.7	0,74,4226	no	coding-synonymous	FAM98A	NM_015475.3		1,83,6419	TT,TC,CC		0.8605,0.2497,0.6535		41/519	33820635	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	25940	exon2			GGTAAACTCGGGG		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.123G>A	2.37:g.33820635C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	171	94	0.549708	NM_015475	B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	CCDS33179.1																																																																																			C|0.995;T|0.005	0.005	strong		0.448	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		T	33820635	C	T	33820635	2	4	23	1	0	0	0	0	0	0	0	1	5656	564	20	2		2	FAM98A	2	33820635	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1106929	33820635	209378738	559	17015										
STRN	6801	hgsc.bcm.edu	37	chr2	37152342	37152342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctttctccctgcaggaaggCaatctgggcctgagtagggg	14	11	2	1	rs200160777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:37152342C>T	ENST00000263918.4	-	2	252	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	STRN_ENST00000379213.2_Missense_Mutation_p.A70T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	82					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.A82T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCAGGAAGGCAATCTGGGCC	0.373																																					p.A82T		Atlas-SNP	.											STRN,NS,other,0,2	STRN	71	2	1	Substitution - Missense(1)	pancreas(1)	c.G244A						scavenged	.						46	49	48					2																	37152342		2202	4299	6501	SO:0001583	missense	6801	exon2			GGAAGGCAATCTG	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.244G>A	2.37:g.37152342C>T	ENSP00000263918:p.Ala82Thr	Somatic	167	14	0.0838323		WXS	Illumina HiSeq	Phase_I	203	14	0.0689655	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066711	0.93898	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.76060	-0.99;-0.95	5.16	5.16	0.70880	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87434	0.6176	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.74674	0.939;0.984	D	0.88923	0.3367	10	0.56958	D	0.05	-8.9413	17.4167	0.87503	0.0:1.0:0.0:0.0	.	70;82	O43815-2;O43815	.;STRN_HUMAN	T	82;57;70	ENSP00000263918:A82T;ENSP00000368513:A70T	ENSP00000263918:A82T	A	-	1	0	STRN	37005846	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.468000	0.80943	2.376000	0.81061	0.650000	0.86243	GCC	C|0.719;T|0.281	0.281	strong		0.373	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			T	37152342	C	T	37152342	3	4	23	1	0	0	0	0	1	0	0	0	15328	710	25	2	2166	2	STRN	2	37152342	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3331707	37152342	206047031	560	17016										
HEATR5B	54497	hgsc.bcm.edu	37	chr2	37230734	37230734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgagcagctcttactatCtgttgtacaactccagtaac	6	12	2	1	rs17497654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:37230734C>T	ENST00000233099.5	-	31	5096	c.5001G>A	c.(4999-5001)caG>caA	p.Q1667Q	HEATR5B_ENST00000354531.2_Silent_p.Q1667Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1667						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCTTACTATCTGTTGTACAA	0.378													C|||	652	0.130192	0.2345	0.1326	5008	,	,		15144	0.0238		0.1461	False		,,,				2504	0.0808				p.Q1667Q		Atlas-SNP	.											.	HEATR5B	185	.	0			c.G5001A						PASS	.	C		921,3485	353.6+/-312.2	97,727,1379	84	84	84		5001	4.6	1	2	dbSNP_123	84	1401,7199	271.2+/-289.4	120,1161,3019	no	coding-synonymous	HEATR5B	NM_019024.1		217,1888,4398	TT,TC,CC		16.2907,20.9033,17.8533		1667/2072	37230734	2322,10684	2203	4300	6503	SO:0001819	synonymous_variant	54497	exon31			TACTATCTGTTGT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5001G>A	2.37:g.37230734C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	99	44	0.444444	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																			C|0.834;T|0.166	0.166	strong		0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37230734	C	T	37230734	2	4	23	1	0	0	0	0	0	0	0	1	7032	912	32	2		2	HEATR5B	2	37230734	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	78392	37230734	205968639	561	17017										
DHX57	90957	hgsc.bcm.edu	37	chr2	39042718	39042718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgggcccttttctcaattTcccttgctctgagcccttcc	6	16	2	1	rs150735204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:39042718T>G	ENST00000295373.6	-	20	3677	c.3551A>C	c.(3550-3552)gAa>gCa	p.E1184A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1184							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTCTCAATTTCCCTTGCTCT	0.453													T|||	11	0.00219649	0.0	0.0043	5008	,	,		19870	0.0		0.007	False		,,,				2504	0.001				p.E1184A	Melanoma(191;1090 2095 4375 23729 47341)	Atlas-SNP	.											DHX57,NS,carcinoma,0,1	DHX57	127	1	0			c.A3551C						PASS	.	T	ALA/GLU	5,4401	9.9+/-24.2	0,5,2198	222	207	212		3551	5.3	1	2	dbSNP_134	212	63,8537	39.3+/-95.6	0,63,4237	yes	missense	DHX57	NM_198963.1	107	0,68,6435	GG,GT,TT		0.7326,0.1135,0.5228	benign	1184/1387	39042718	68,12938	2203	4300	6503	SO:0001583	missense	90957	exon20			TCAATTTCCCTTG	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3551A>C	2.37:g.39042718T>G	ENSP00000295373:p.Glu1184Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	123	61	0.495935	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	11.33	1.606871	0.28623	0.001135	0.007326	ENSG00000163214	ENST00000295373	T	0.02787	4.16	5.29	5.29	0.74685	Domain of unknown function DUF1605 (1);	0.241073	0.29046	N	0.013302	T	0.01489	0.0048	N	0.11560	0.145	0.46078	D	0.99885	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.001	T	0.57069	-0.7874	10	0.13470	T	0.59	.	15.5408	0.76043	0.0:0.0:0.0:1.0	.	1184;576	Q6P158;Q59G60	DHX57_HUMAN;.	A	1184	ENSP00000295373:E1184A	ENSP00000295373:E1184A	E	-	2	0	DHX57	38896222	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	5.728000	0.68531	2.120000	0.65058	0.460000	0.39030	GAA	T|0.996;G|0.004	0.004	strong		0.453	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		G	39042718	T	G	39042718	3	3	23	1	0	0	0	0	1	0	0	0	4513	1783	62	5	629	5	DHX57	2	39042718	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1811984	39042718	204156655	562	17018										
EML4	27436	hgsc.bcm.edu	37	chr2	42515437	42515437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactgtatgggactggcagaAgaaagcaaaaggagcagaaa	13	5	0	3	rs28651764	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:42515437A>G	ENST00000318522.5	+	11	1455	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	EML4_ENST00000401738.3_Missense_Mutation_p.K409R|EML4_ENST00000402711.2_Missense_Mutation_p.K340R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	398			K -> R (in dbSNP:rs28651764). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTGGCAGAAGAAAGCAAAA	0.333			T	ALK	NSCLC								A|||	1365	0.272564	0.1679	0.1657	5008	,	,		17440	0.5784		0.3131	False		,,,				2504	0.1329				p.K398R		Atlas-SNP	.		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	EML4_ENST00000318522,NS,carcinoma,-1,2	EML4	92	2	0			c.A1193G						scavenged	.	A	ARG/LYS,ARG/LYS	765,3641	306.6+/-289.6	80,605,1518	128	133	131		1019,1193	1.8	1	2	dbSNP_125	131	2649,5951	425.5+/-355.0	406,1837,2057	yes	missense,missense	EML4	NM_001145076.1,NM_019063.3	26,26	486,2442,3575	GG,GA,AA		30.8023,17.3627,26.2494	benign,benign	340/924,398/982	42515437	3414,9592	2203	4300	6503	SO:0001583	missense	27436	exon11			GGCAGAAGAAAGC	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1193A>G	2.37:g.42515437A>G	ENSP00000320663:p.Lys398Arg	Somatic	63	1	0.015873		WXS	Illumina HiSeq	Phase_I	63	24	0.380952	NM_019063	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	716	0.32783882783882784	83	0.16869918699186992	74	0.20441988950276244	310	0.541958041958042	249	0.32849604221635886	A	13.48	2.249720	0.39797	0.173627	0.308023	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56941	0.43;0.43;0.43	5.43	1.76	0.24704	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.100460	0.64402	N	0.000003	T	0.00012	0.0000	N	0.13168	0.305	0.09310	P	0.9999999999936345	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.13407	0.005;0.009;0.006	T	0.48502	-0.9030	9	0.20519	T	0.43	-9.7437	9.4373	0.38646	0.7214:0.0:0.2786:0.0	rs28651764	340;409;398	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	R	398;340;409	ENSP00000320663:K398R;ENSP00000385059:K340R;ENSP00000384939:K409R	ENSP00000320663:K398R	K	+	2	0	EML4	42368941	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.107000	0.50329	0.352000	0.24053	0.482000	0.46254	AAG	A|0.717;G|0.283	0.283	strong		0.333	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		G	42515437	A	G	42515437	3	3	23	1	0	0	0	0	1	0	0	0	5099	72	3	3	1235	3	EML4	2	42515437	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3472719	42515437	200683936	563	17019										
OXER1	165140	hgsc.bcm.edu	37	chr2	42990336	42990336	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgtgcagaggtccagggaTcggcaggcggacagccagaa	17	9	0	2	rs1992286	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:42990336T>G	ENST00000378661.2	-	1	1065	c.984A>C	c.(982-984)cgA>cgC	p.R328R		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	328					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						GGTCCAGGGATCGGCAGGCGG	0.592													.|||	3907	0.780152	0.9569	0.7536	5008	,	,		16668	0.8165		0.5408	False		,,,				2504	0.7689				p.R328R		Atlas-SNP	.											OXER1,NS,carcinoma,0,1	OXER1	33	1	0			c.A984C						scavenged	.	G		3884,522	231.4+/-245.2	1712,460,31	41	44	43		984	-2.6	0	2	dbSNP_92	43	4706,3894	534.2+/-382.6	1271,2164,865	no	coding-synonymous	OXER1	NM_148962.4		2983,2624,896	GG,GT,TT		45.2791,11.8475,33.9536		328/424	42990336	8590,4416	2203	4300	6503	SO:0001819	synonymous_variant	165140	exon1			CAGGGATCGGCAG	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.984A>C	2.37:g.42990336T>G		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	162	77	0.475309	NM_148962	Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	CCDS1810.1																																																																																			G|0.690;N|0.002	0.690	strong		0.592	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		G	42990336	T	G	42990336	2	3	23	1	0	0	0	0	0	0	0	1	11331	1422	50	5		5	OXER1	2	42990336	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	474899	42990336	200209037	564	17020										
THADA	63892	hgsc.bcm.edu	37	chr2	43625184	43625184	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggagtgtggacaacagagTtcgaatggtattaggaatgt	16	3	0	1	rs33979934	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:43625184T>A	ENST00000405006.4	-	29	4504	c.4153A>T	c.(4153-4155)Act>Tct	p.T1385S	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.T1066S|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.T1385S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1385			T -> S (in dbSNP:rs33979934). {ECO:0000269|PubMed:15489334}.					p.T1385S(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACAACAGAGTTCGAATGGTA	0.493													T|||	1068	0.213259	0.2723	0.1412	5008	,	,		19775	0.0327		0.2704	False		,,,				2504	0.3119				p.T1385S		Atlas-SNP	.											THADA,NS,carcinoma,0,1	THADA	131	1	1	Substitution - Missense(1)	stomach(1)	c.A4153T						scavenged	.	T	SER/THR,SER/THR	981,3127		126,729,1199	158	161	160		4153,4153	-10.3	0	2	dbSNP_126	160	2088,6336		268,1552,2392	yes	missense,missense	THADA	NM_001083953.1,NM_022065.4	58,58	394,2281,3591	AA,AT,TT		24.7863,23.8802,24.4893	benign,benign	1385/1954,1385/1954	43625184	3069,9463	2054	4212	6266	SO:0001583	missense	63892	exon29			ACAGAGTTCGAAT	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4153A>T	2.37:g.43625184T>A	ENSP00000385995:p.Thr1385Ser	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	207	101	0.487923	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	421|421	0.19276556776556777|0.19276556776556777	128|128	0.2601626016260163|0.2601626016260163	54|54	0.14917127071823205|0.14917127071823205	26|26	0.045454545454545456|0.045454545454545456	213|213	0.28100263852242746|0.28100263852242746	T|T	3.520|3.520	-0.097927|-0.097927	0.07010|0.07010	0.238802|0.238802	0.247863|0.247863	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|Armadillo-type fold (1);	.|0.961987	.|0.08558	.|N	.|0.927958	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01576|0.01576	-0.805|-0.805	0.45762|0.45762	P|P	0.0013440000000000119|0.0013440000000000119	.|B;B;B;B	.|0.18968	.|0.004;0.032;0.002;0.001	.|B;B;B;B	.|0.20767	.|0.007;0.031;0.002;0.001	T|T	0.16988|0.16988	-1.0384|-1.0384	4|9	.|0.18710	.|T	.|0.47	.|.	8.8731|8.8731	0.35327|0.35327	0.236:0.5274:0.0:0.2366|0.236:0.5274:0.0:0.2366	rs33979934;rs61143339|rs33979934;rs61143339	.|1064;1312;1066;1385	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	D|S	624|1385;1312;1066;1385	.|ENSP00000386088:T1385S;ENSP00000416048:T1066S;ENSP00000385995:T1385S	.|ENSP00000349464:T1312S	E|T	-|-	3|1	2|0	THADA|THADA	43478688|43478688	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.358000|-0.358000	0.07641|0.07641	-1.592000|-1.592000	0.01619|0.01619	-0.248000|-0.248000	0.11899|0.11899	GAA|ACT	A|0.209;T|0.791	0.209	strong		0.493	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43625184	T	A	43625184	3	1	23	1	0	0	0	0	1	0	0	0	15837	1725	60	5	1748	5	THADA	2	43625184	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	634848	43625184	199574189	565	17021										
PLEKHH2	130271	hgsc.bcm.edu	37	chr2	43926943	43926943	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccagaattctggggctccTgtgagtgactggagctctga	13	10	2	4	rs7606783	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:43926943T>A	ENST00000282406.4	+	8	956	c.846T>A	c.(844-846)ccT>ccA	p.P282P		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	282					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGGGCTCCTGTGAGTGACT	0.517													A|||	2640	0.527157	0.7935	0.4741	5008	,	,		18637	0.1647		0.5467	False		,,,				2504	0.5583				p.P282P		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.T846A						PASS	.	A		3296,1110	399.7+/-331.3	1235,826,142	71	73	72		846	-11.7	0	2	dbSNP_116	72	4606,3994	554.4+/-386.5	1246,2114,940	no	coding-synonymous	PLEKHH2	NM_172069.3		2481,2940,1082	AA,AT,TT		46.4419,25.1929,39.2434		282/1494	43926943	7902,5104	2203	4300	6503	SO:0001819	synonymous_variant	130271	exon8			GGCTCCTGTGAGT	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.846T>A	2.37:g.43926943T>A		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	218	101	0.463303	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																			T|0.440;A|0.560	0.560	strong		0.517	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43926943	T	A	43926943	2	1	23	1	0	0	0	0	0	0	0	1	12077	1567	55	5		5	PLEKHH2	2	43926943	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	301759	43926943	199272430	566	17022										
ABCG5	64240	hgsc.bcm.edu	37	chr2	44040401	44040401	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaatgaattgaattccttGagtgaaggcacacattggat	9	7	1	4	rs6720173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:44040401G>C	ENST00000260645.1	-	13	1949	c.1810C>G	c.(1810-1812)Caa>Gaa	p.Q604E	ABCG5_ENST00000405322.1_Missense_Mutation_p.Q433E|ABCG5_ENST00000543989.1_Missense_Mutation_p.Q209E	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	604	ABC transmembrane type-2.		Q -> E (in dbSNP:rs6720173). {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11138003, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:11668628}.		ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGAATTCCTTGAGTGAAGGCA	0.383													G|||	1202	0.240016	0.3298	0.3012	5008	,	,		20767	0.121		0.164	False		,,,				2504	0.2761				p.Q604E		Atlas-SNP	.											.	ABCG5	72	.	0			c.C1810G	GRCh37	CM025438	ABCG5	M	rs6720173	PASS	.	G	GLU/GLN	1353,3053	448.3+/-348.6	210,933,1060	97	96	96		1810	3.9	1	2	dbSNP_116	96	1382,7218	267.2+/-287.2	123,1136,3041	yes	missense	ABCG5	NM_022436.2	29	333,2069,4101	CC,CG,GG		16.0698,30.7081,21.0288	possibly-damaging	604/652	44040401	2735,10271	2203	4300	6503	SO:0001583	missense	64240	exon13			TTCCTTGAGTGAA	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1810C>G	2.37:g.44040401G>C	ENSP00000260645:p.Gln604Glu	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_022436	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	CCDS1814.1	460	0.21062271062271062	171	0.3475609756097561	98	0.27071823204419887	65	0.11363636363636363	126	0.1662269129287599	G	7.416	0.635703	0.14322	0.307081	0.160698	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	D;T;T	0.89552	-2.53;2.33;2.33	4.79	3.91	0.45181	.	0.835327	0.11000	N	0.610637	T	0.00012	0.0000	L	0.54323	1.7	0.32863	P	0.491858	B;B	0.23806	0.091;0.067	B;B	0.19391	0.025;0.012	T	0.10154	-1.0642	9	0.15066	T	0.55	.	14.8473	0.70270	0.0:0.1446:0.8554:0.0	rs6720173;rs17423788;rs52807957;rs6720173	433;604	E7EX35;Q9H222	.;ABCG5_HUMAN	E	604;433;209	ENSP00000260645:Q604E;ENSP00000384513:Q433E;ENSP00000445107:Q209E	ENSP00000260645:Q604E	Q	-	1	0	ABCG5	43893905	1.000000	0.71417	0.985000	0.45067	0.272000	0.26649	2.978000	0.49305	1.221000	0.43506	-0.165000	0.13383	CAA	G|0.792;C|0.208	0.208	strong		0.383	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		C	44040401	G	C	44040401	3	2	23	1	0	0	0	0	1	0	0	0	71	1299	45	4	149	4	ABCG5	2	44040401	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113458	44040401	199158972	567	17023										
ABCG8	64241	hgsc.bcm.edu	37	chr2	44102491	44102491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctccttcttcagcaatgcCctctacaactccttctacct	3	18	4	0	rs4148221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:44102491C>T	ENST00000272286.2	+	11	1785	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	565	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCAGCAATGCCCTCTACAACT	0.617													C|||	639	0.127596	0.1694	0.1556	5008	,	,		18103	0.0188		0.1759	False		,,,				2504	0.1135				p.A565A		Atlas-SNP	.											.	ABCG8	98	.	0			c.C1695T						PASS	.	C		727,3679	299.8+/-286.0	60,607,1536	56	58	57		1695	-3.5	0.1	2	dbSNP_110	57	1524,7076	287.1+/-298.1	128,1268,2904	no	coding-synonymous	ABCG8	NM_022437.2		188,1875,4440	TT,TC,CC		17.7209,16.5002,17.3074		565/674	44102491	2251,10755	2203	4300	6503	SO:0001819	synonymous_variant	64241	exon11			CAATGCCCTCTAC	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1695C>T	2.37:g.44102491C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_022437	Q53QN8	Silent	SNP	ENST00000272286.2	37	CCDS1815.1																																																																																			C|0.850;T|0.150	0.150	strong		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44102491	C	T	44102491	2	4	23	1	0	0	0	0	0	0	0	1	72	610	22	2		2	ABCG8	2	44102491	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	62090	44102491	199096882	568	17024										
SLC3A1	6519	hgsc.bcm.edu	37	chr2	44502977	44502977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttctgtgctggtgctcatCgcggccaccatagccatcat	10	14	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:44502977C>T	ENST00000260649.6	+	1	379	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC3A1_ENST00000409387.1_Silent_p.I101I|SLC3A1_ENST00000409229.3_Silent_p.I101I|SLC3A1_ENST00000409741.1_Silent_p.I101I|SLC3A1_ENST00000410056.3_Silent_p.I101I	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	101					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TGGTGCTCATCGCGGCCACCA	0.582																																					p.I101I		Atlas-SNP	.											SLC3A1,NS,carcinoma,0,1	SLC3A1	62	1	0			c.C303T						scavenged	.						60	57	58					2																	44502977		2203	4300	6503	SO:0001819	synonymous_variant	6519	exon1			GCTCATCGCGGCC		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.303C>T	2.37:g.44502977C>T		Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	170	2	0.0117647	NM_000341	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Silent	SNP	ENST00000260649.6	37	CCDS1819.1																																																																																			.	.	none		0.582	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		T	44502977	C	T	44502977	2	4	23	1	0	0	0	0	0	0	0	1	14626	874	31	1		1	SLC3A1	2	44502977	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	400486	44502977	198696396	569	17025										
C2orf34	79823	hgsc.bcm.edu	37	chr2	44942450	44942450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaagacatcatcacaaggaAtcagaaggctggtgtgttta	11	7	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:44942450A>G	ENST00000378494.3	+	7	625	c.581A>G	c.(580-582)aAt>aGt	p.N194S		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	194						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						ATCACAAGGAATCAGAAGGCT	0.363																																					p.N194S		Atlas-SNP	.											.	CAMKMT	20	.	0			c.A581G						PASS	.						87	92	90					2																	44942450		2203	4300	6503	SO:0001583	missense	79823	exon7			CAAGGAATCAGAA		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.581A>G	2.37:g.44942450A>G	ENSP00000367755:p.Asn194Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	106	45	0.424528	NM_024766	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482904	0.63962	.	.	ENSG00000143919	ENST00000378494	T	0.12879	2.64	5.52	5.52	0.82312	.	0.086330	0.85682	D	0.000000	T	0.39279	0.1072	M	0.89478	3.035	0.80722	D	1	D	0.56746	0.977	P	0.61874	0.895	T	0.42050	-0.9474	10	0.72032	D	0.01	-12.628	10.9403	0.47270	0.8434:0.1566:0.0:0.0	.	194	Q7Z624	CMKMT_HUMAN	S	194	ENSP00000367755:N194S	ENSP00000367755:N194S	N	+	2	0	CAMKMT	44795954	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.066000	0.64351	2.104000	0.64026	0.528000	0.53228	AAT	.	.	none		0.363	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		G	44942450	A	G	44942450	3	3	23	1	0	0	0	0	1	0	0	0	2163	101	4	2	607	2	C2orf34	2	44942450	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	439473	44942450	198256923	570	17026										
SRBD1	55133	hgsc.bcm.edu	37	chr2	45640374	45640374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttctcatttgtgacctcaaCgtctgctgaagatgtcacag	8	11	4	3	rs3755073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:45640374C>A	ENST00000263736.4	-	19	2454	c.2392G>T	c.(2392-2394)Gtt>Ttt	p.V798F	SRBD1_ENST00000535761.1_Missense_Mutation_p.V317F|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	798			V -> F (in dbSNP:rs3755073).		nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGACCTCAACGTCTGCTGAA	0.398													C|||	1056	0.210863	0.3495	0.2493	5008	,	,		20683	0.1468		0.1004	False		,,,				2504	0.1759				p.V798F		Atlas-SNP	.											.	SRBD1	107	.	0			c.G2392T						PASS	.	C	PHE/VAL	1403,3003	462.4+/-353.2	236,931,1036	251	229	237		2392	4	0.8	2	dbSNP_107	237	773,7827	182.8+/-231.1	37,699,3564	yes	missense	SRBD1	NM_018079.4	50	273,1630,4600	AA,AC,CC		8.9884,31.8429,16.7307	benign	798/996	45640374	2176,10830	2203	4300	6503	SO:0001583	missense	55133	exon19			CCTCAACGTCTGC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2392G>T	2.37:g.45640374C>A	ENSP00000263736:p.Val798Phe	Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	184	182	0.98913	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	420	0.19230769230769232	167	0.3394308943089431	85	0.23480662983425415	95	0.1660839160839161	73	0.09630606860158311	C	1.385	-0.582339	0.03827	0.318429	0.089884	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.30714	1.93;1.52	4.9	4.02	0.46733	.	0.979149	0.08391	N	0.952940	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.25351	0.124	B	0.22152	0.038	T	0.38564	-0.9655	9	0.62326	D	0.03	.	12.2312	0.54488	0.0:0.8418:0.0:0.1582	rs3755073;rs52834816;rs58670373;rs3755073	798	Q8N5C6	SRBD1_HUMAN	F	798;317	ENSP00000263736:V798F;ENSP00000441272:V317F	ENSP00000263736:V798F	V	-	1	0	SRBD1	45493878	0.001000	0.12720	0.793000	0.32043	0.038000	0.13279	0.894000	0.28350	0.678000	0.31325	-1.119000	0.02030	GTT	C|0.818;A|0.182	0.182	strong		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		A	45640374	C	A	45640374	3	1	23	1	0	0	0	0	1	0	0	0	15132	536	19	4	607	4	SRBD1	2	45640374	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	697924	45640374	197558999	571	17027										
SRBD1	55133	hgsc.bcm.edu	37	chr2	45645512	45645512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttatactcacctgcaaaaCgttcggatataatcctggtt	6	10	1	0	rs2276655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:45645512C>T	ENST00000263736.4	-	18	2387	c.2325G>A	c.(2323-2325)acG>acA	p.T775T	SRBD1_ENST00000535761.1_Silent_p.T294T|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	775					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACCTGCAAAACGTTCGGATAT	0.403													T|||	971	0.19389	0.3215	0.2421	5008	,	,		19287	0.1359		0.0944	False		,,,				2504	0.1493				p.T775T		Atlas-SNP	.											.	SRBD1	107	.	0			c.G2325A						PASS	.	T		1301,3105	697.5+/-406.2	207,887,1109	277	177	211		2325	0.6	1	2	dbSNP_100	211	751,7849	785.5+/-407.6	34,683,3583	no	coding-synonymous	SRBD1	NM_018079.4		241,1570,4692	TT,TC,CC		8.7326,29.5279,15.7773		775/996	45645512	2052,10954	2203	4300	6503	SO:0001819	synonymous_variant	55133	exon18			GCAAAACGTTCGG	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2325G>A	2.37:g.45645512C>T		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	210	208	0.990476	NM_018079	Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	CCDS1823.1																																																																																			C|0.840;T|0.160	0.160	strong		0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		T	45645512	C	T	45645512	2	4	23	1	0	0	0	0	0	0	0	1	15132	523	19	1		1	SRBD1	2	45645512	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5138	45645512	197553861	572	17028										
SOCS5	9655	hgsc.bcm.edu	37	chr2	46986716	46986716	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatctggagacagccatacCcatgttagcagacagggagc	11	10	1	2	rs41489952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:46986716C>G	ENST00000306503.5	+	2	1219	c.1047C>G	c.(1045-1047)acC>acG	p.T349T	SOCS5_ENST00000394861.2_Silent_p.T349T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	349					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACAGCCATACCCATGTTAGCA	0.478													C|||	139	0.0277556	0.003	0.0403	5008	,	,		21764	0.001		0.0934	False		,,,				2504	0.0123				p.T349T		Atlas-SNP	.											.	SOCS5	62	.	0			c.C1047G						PASS	.	C	,	93,4313	74.1+/-112.3	1,91,2111	72	72	72		1047,1047	1.5	0.1	2	dbSNP_127	72	859,7741	195.4+/-240.6	46,767,3487	no	coding-synonymous,coding-synonymous	SOCS5	NM_014011.4,NM_144949.2	,	47,858,5598	GG,GC,CC		9.9884,2.1108,7.3197	,	349/537,349/537	46986716	952,12054	2203	4300	6503	SO:0001819	synonymous_variant	9655	exon2			CCATACCCATGTT	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1047C>G	2.37:g.46986716C>G		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	216	125	0.578704	NM_144949	Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	CCDS1830.1																																																																																			C|0.935;G|0.065	0.065	strong		0.478	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			G	46986716	C	G	46986716	2	3	23	1	0	0	0	0	0	0	0	1	14917	610	22	4		4	SOCS5	2	46986716	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1341204	46986716	196212657	573	17029										
TTC7A	57217	hgsc.bcm.edu	37	chr2	47251469	47251469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccccaggtcatcctctatGtctcgctgcagctggccctc	8	18	3	0	rs2304290	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:47251469G>C	ENST00000319190.5	+	14	1980	c.1612G>C	c.(1612-1614)Gtc>Ctc	p.V538L	TTC7A_ENST00000394850.2_Missense_Mutation_p.V538L|TTC7A_ENST00000263737.6_Missense_Mutation_p.V184L|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.V504L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	538			V -> L (in dbSNP:rs2304290). {ECO:0000269|PubMed:17974005}.		cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CATCCTCTATGTCTCGCTGCA	0.632													G|||	1353	0.270168	0.2156	0.196	5008	,	,		2519	0.6032		0.1332	False		,,,				2504	0.1943				p.V538L		Atlas-SNP	.											.	TTC7A	80	.	0			c.G1612C						PASS	.	G	LEU/VAL	1008,3398	373.4+/-320.8	121,766,1316	93	82	86		1612	2.6	1	2	dbSNP_100	86	1215,7385	244.6+/-273.7	93,1029,3178	yes	missense	TTC7A	NM_020458.2	32	214,1795,4494	CC,CG,GG		14.1279,22.8779,17.0921	benign	538/859	47251469	2223,10783	2203	4300	6503	SO:0001583	missense	57217	exon14			CTCTATGTCTCGC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1612G>C	2.37:g.47251469G>C	ENSP00000316699:p.Val538Leu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	164	80	0.487805	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	598	0.27380952380952384	87	0.17682926829268292	71	0.19613259668508287	335	0.5856643356643356	105	0.13852242744063326	G	0.029	-1.344233	0.01277	0.228779	0.141279	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.43	2.57	0.30868	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.211356	0.41001	N	0.000969	T	0.00012	0.0000	N	0.00793	-1.18	0.31108	P	0.71029	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.003;0.002;0.001	T	0.45934	-0.9227	9	0.02654	T	1	-29.6049	1.9777	0.03419	0.1736:0.1587:0.5039:0.1638	rs2304290;rs12995476;rs56747692;rs2304290	538;504;538;366;504	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	L	504;538;538;184;365	ENSP00000386307:V504L;ENSP00000316699:V538L;ENSP00000378320:V538L;ENSP00000263737:V184L	ENSP00000263737:V184L	V	+	1	0	TTC7A	47104973	0.998000	0.40836	0.996000	0.52242	0.051000	0.14879	1.360000	0.34125	0.626000	0.30322	0.563000	0.77884	GTC	G|0.779;C|0.221	0.221	strong		0.632	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		C	47251469	G	C	47251469	3	2	23	1	0	0	0	0	1	0	0	0	16709	1377	48	4	1666	4	TTC7A	2	47251469	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	264753	47251469	195947904	574	17030										
TTC7A	57217	hgsc.bcm.edu	37	chr2	47278901	47278901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggctcccggcgggcttcGtccatcgccgcctcccggct	13	19	0	0	rs3739100	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:47278901G>A	ENST00000319190.5	+	18	2402	c.2034G>A	c.(2032-2034)tcG>tcA	p.S678S	TTC7A_ENST00000394850.2_Silent_p.S702S|TTC7A_ENST00000263737.6_Silent_p.S324S|TTC7A_ENST00000409245.1_Silent_p.S644S	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	678					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGCGGGCTTCGTCCATCGCCG	0.657													G|||	921	0.183906	0.1566	0.1398	5008	,	,		16415	0.4435		0.0378	False		,,,				2504	0.135				p.S678S		Atlas-SNP	.											.	TTC7A	80	.	0			c.G2034A						PASS	.	G		691,3693		63,565,1564	45	47	47		2034	-10.4	0.1	2	dbSNP_107	47	261,8305		4,253,4026	no	coding-synonymous	TTC7A	NM_020458.2		67,818,5590	AA,AG,GG		3.0469,15.7619,7.3514		678/859	47278901	952,11998	2192	4283	6475	SO:0001819	synonymous_variant	57217	exon18			GGCTTCGTCCATC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2034G>A	2.37:g.47278901G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	159	81	0.509434	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																			G|0.870;A|0.130	0.130	strong		0.657	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47278901	G	A	47278901	2	1	23	1	0	0	0	0	0	0	0	1	16709	1132	40	1		1	TTC7A	2	47278901	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27432	47278901	195920472	575	17031										
TTC7A	57217	hgsc.bcm.edu	37	chr2	47301029	47301029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggaggccagcagccctgtActgcccttctccatcatccc	8	18	2	0	rs3739099	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:47301029A>G	ENST00000319190.5	+	20	2912	c.2544A>G	c.(2542-2544)gtA>gtG	p.V848V	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000464527.2_Intron|TTC7A_ENST00000394850.2_Silent_p.V872V|TTC7A_ENST00000263737.6_Silent_p.V494V|TTC7A_ENST00000409245.1_Silent_p.V814V|AC073283.7_ENST00000421759.1_RNA	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	848					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGCCCTGTACTGCCCTTCT	0.687													G|||	1665	0.332468	0.3064	0.2507	5008	,	,		17841	0.6577		0.0885	False		,,,				2504	0.3415				p.V848V		Atlas-SNP	.											TTC7A,NS,carcinoma,0,1	TTC7A	80	1	0			c.A2544G						PASS	.	G		1221,3183	692.2+/-405.5	177,867,1158	41	35	37		2544	1	1	2	dbSNP_107	37	641,7959	780.6+/-407.7	30,581,3689	no	coding-synonymous	TTC7A	NM_020458.2		207,1448,4847	GG,GA,AA		7.4535,27.7248,14.3187		848/859	47301029	1862,11142	2202	4300	6502	SO:0001819	synonymous_variant	57217	exon20			CCCTGTACTGCCC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2544A>G	2.37:g.47301029A>G		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	307	136	0.442997	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																			A|0.774;G|0.226	0.226	strong		0.687	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		G	47301029	A	G	47301029	2	3	23	1	0	0	0	0	0	0	0	1	16709	378	14	2		2	TTC7A	2	47301029	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22128	47301029	195898344	576	17032										
MSH2	4436	hgsc.bcm.edu	37	chr2	47630528	47630528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccagggggtgatcaagtaCatggggccggcaggtgaggg	19	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:47630528C>T	ENST00000233146.2	+	1	421	c.198C>T	c.(196-198)taC>taT	p.Y66Y	MSH2_ENST00000406134.1_Silent_p.Y66Y|MSH2_ENST00000543555.1_5'UTR	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	66					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCAAGTACATGGGGCCGG	0.706			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.Y66Y		Atlas-SNP	.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2	198	.	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.C198T						PASS	.						9	12	11					2																	47630528		2186	4271	6457	SO:0001819	synonymous_variant	4436	exon1	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CAAGTACATGGGG	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.198C>T	2.37:g.47630528C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	111	62	0.558559	NM_000251	B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	CCDS1834.1																																																																																			.	.	none		0.706	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			T	47630528	C	T	47630528	2	4	23	1	0	0	0	0	0	0	0	1	9870	489	17	2		2	MSH2	2	47630528	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	329499	47630528	195568845	577	17033										
LHCGR	3973	hgsc.bcm.edu	37	chr2	48921375	48921375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacttacagtgttttgttaTtcactttccttactgtgctt	5	8	1	0	rs2293275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:48921375T>C	ENST00000294954.7	-	10	956	c.935A>G	c.(934-936)aAt>aGt	p.N312S	LHCGR_ENST00000403273.1_Missense_Mutation_p.N312S|LHCGR_ENST00000344775.3_Missense_Mutation_p.N250S|LHCGR_ENST00000401907.1_Missense_Mutation_p.N312S|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	312			N -> S (in dbSNP:rs2293275). {ECO:0000269|PubMed:2244890, ECO:0000269|PubMed:7556872}.	Missing (in Ref. 3; AAA70231). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTTTTGTTATTCACTTTCCT	0.323													T|||	2960	0.591054	0.2352	0.6657	5008	,	,		18928	0.9276		0.6402	False		,,,				2504	0.6217				p.N312S		Atlas-SNP	.											.	LHCGR	154	.	0			c.A935G						PASS	.	T	SER/ASN,	1307,3093	429.3+/-342.2	203,901,1096	137	102	114		935,	3.9	0.8	2	dbSNP_100	114	5074,3516	612.9+/-396.0	1492,2090,713	yes	missense,intron	LHCGR,STON1-GTF2A1L	NM_000233.3,NM_001198593.1	46,	1695,2991,1809	CC,CT,TT		40.9313,29.7045,49.1224	benign,	312/700,	48921375	6381,6609	2200	4295	6495	SO:0001583	missense	3973	exon10			TTGTTATTCACTT		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.935A>G	2.37:g.48921375T>C	ENSP00000294954:p.Asn312Ser	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	224	110	0.491071	NM_000233	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	1387	0.63507326007326	125	0.2540650406504065	262	0.7237569060773481	529	0.9248251748251748	471	0.6213720316622692	T	4.051	0.007198	0.07866	0.297045	0.590687	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.78003	-0.95;-0.77;-1.14;-0.97	5.09	3.9	0.45041	.	0.636684	0.17257	N	0.180938	T	0.00012	0.0000	N	0.17564	0.495	0.35412	P	0.20750199999999996	B	0.11235	0.004	B	0.08055	0.003	T	0.34030	-0.9845	8	.	.	.	.	9.9216	0.41468	0.0:0.0:0.3586:0.6414	rs2293275;rs17398177;rs52807977;rs60456102;rs2293275	312	P22888	LSHR_HUMAN	S	250;312;312;312	ENSP00000344301:N250S;ENSP00000294954:N312S;ENSP00000385847:N312S;ENSP00000385406:N312S	.	N	-	2	0	LHCGR	48774879	0.889000	0.30405	0.794000	0.32065	0.151000	0.21798	1.185000	0.32065	0.848000	0.35191	0.460000	0.39030	AAT	T|0.446;C|0.554	0.554	strong		0.323	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		C	48921375	T	C	48921375	3	2	23	1	0	0	0	0	1	0	0	0	8762	1493	52	2	1172	2	LHCGR	2	48921375	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1290847	48921375	194277998	578	17034										
PSME4	23198	hgsc.bcm.edu	37	chr2	54120025	54120025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgctgggtgctttcatgtgAatctgcaaccaaatgttcta	9	9	3	1	rs805408	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:54120025A>T	ENST00000404125.1	-	36	4166	c.4111T>A	c.(4111-4113)Tca>Aca	p.S1371T	PSME4_ENST00000421748.2_Missense_Mutation_p.S515T	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1371			S -> T (in dbSNP:rs805408).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTCATGTGAATCTGCAACC	0.373													A|||	1749	0.349241	0.2186	0.2522	5008	,	,		16857	0.4742		0.3002	False		,,,				2504	0.5164				p.S1371T		Atlas-SNP	.											.	PSME4	247	.	0			c.T4111A						PASS	.	A	THR/SER	931,3475	355.9+/-313.2	87,757,1359	102	100	101		4111	5.4	1	2	dbSNP_86	101	2595,6005	420.4+/-353.4	385,1825,2090	yes	missense	PSME4	NM_014614.2	58	472,2582,3449	TT,TA,AA		30.1744,21.1303,27.1106	benign	1371/1844	54120025	3526,9480	2203	4300	6503	SO:0001583	missense	23198	exon36			CATGTGAATCTGC	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4111T>A	2.37:g.54120025A>T	ENSP00000384211:p.Ser1371Thr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	155	79	0.509677	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	658	0.30128205128205127	102	0.2073170731707317	92	0.2541436464088398	230	0.4020979020979021	234	0.3087071240105541	A	9.975	1.226633	0.22542	0.211303	0.301744	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66280	-0.2;-0.2	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.192762	0.47093	D	0.000251	T	0.00012	0.0000	N	0.04746	-0.17	0.21184	P	0.999767317	B;B;B	0.10296	0.003;0.0;0.002	B;B;B	0.11329	0.006;0.001;0.001	T	0.28267	-1.0049	9	0.15952	T	0.53	.	15.4442	0.75216	1.0:0.0:0.0:0.0	rs805408;rs52818353;rs805408	746;515;1371	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	T	515;1371	ENSP00000410830:S515T;ENSP00000384211:S1371T	ENSP00000384211:S1371T	S	-	1	0	PSME4	53973529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	2.060000	0.61445	0.454000	0.30748	TCA	A|0.713;T|0.287	0.287	strong		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54120025	A	T	54120025	3	4	23	1	0	0	0	0	1	0	0	0	12709	246	9	5	1464	5	PSME4	2	54120025	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5198650	54120025	189079348	579	17035										
PSME4	23198	hgsc.bcm.edu	37	chr2	54127041	54127041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggcatcggcattcttttcCtgttggcgtttaattccttc	9	10	1	0	rs805423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:54127041C>T	ENST00000404125.1	-	29	3454	c.3399G>A	c.(3397-3399)caG>caA	p.Q1133Q	PSME4_ENST00000421748.2_Silent_p.Q277Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTCTTTTCCTGTTGGCGTT	0.363													T|||	3048	0.608626	0.6422	0.4741	5008	,	,		19545	0.7331		0.494	False		,,,				2504	0.6483				p.Q1133Q		Atlas-SNP	.											.	PSME4	247	.	0			c.G3399A						PASS	.	T		2587,1819	532.3+/-373.4	767,1053,383	218	218	218		3399	3.2	1	2	dbSNP_86	218	4160,4440	587.9+/-392.3	993,2174,1133	no	coding-synonymous	PSME4	NM_014614.2		1760,3227,1516	TT,TC,CC		48.3721,41.2846,48.1239		1133/1844	54127041	6747,6259	2203	4300	6503	SO:0001819	synonymous_variant	23198	exon29			CTTTTCCTGTTGG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3399G>A	2.37:g.54127041C>T		Somatic	352	0	0		WXS	Illumina HiSeq	Phase_I	285	136	0.477193	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			C|0.452;T|0.548	0.548	strong		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54127041	C	T	54127041	2	4	23	1	0	0	0	0	0	0	0	1	12709	680	24	2		2	PSME4	2	54127041	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7016	54127041	189072332	580	17036										
PSME4	23198	hgsc.bcm.edu	37	chr2	54133744	54133744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataagccttacctgactgtaTgaacttgtagataaacgaag	8	7	0	3	rs805316	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:54133744T>C	ENST00000404125.1	-	26	2989	c.2934A>G	c.(2932-2934)tcA>tcG	p.S978S	PSME4_ENST00000421748.2_Silent_p.S122S	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	978					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.S864S(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTGACTGTATGAACTTGTAG	0.363													T|||	1071	0.213858	0.1082	0.2205	5008	,	,		18843	0.1558		0.2664	False		,,,				2504	0.3579				p.S978S		Atlas-SNP	.											PSME4,NS,carcinoma,0,1	PSME4	247	1	1	Substitution - coding silent(1)	stomach(1)	c.A2934G						scavenged	.	T		581,3825	258.6+/-262.5	38,505,1660	165	163	164		2934	-3	1	2	dbSNP_86	164	2403,6197	399.1+/-346.3	332,1739,2229	no	coding-synonymous	PSME4	NM_014614.2		370,2244,3889	CC,CT,TT		27.9419,13.1866,22.9433		978/1844	54133744	2984,10022	2203	4300	6503	SO:0001819	synonymous_variant	23198	exon26			ACTGTATGAACTT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2934A>G	2.37:g.54133744T>C		Somatic	195	2	0.0102564		WXS	Illumina HiSeq	Phase_I	207	89	0.429952	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			T|0.784;C|0.216	0.216	strong		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		C	54133744	T	C	54133744	2	2	23	1	0	0	0	0	0	0	0	1	12709	1451	51	2		2	PSME4	2	54133744	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6703	54133744	189065629	581	17037										
C2orf63	130162	hgsc.bcm.edu	37	chr2	55404883	55404883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacactgaattaattcaacTtggggacatgacattaatag	8	6	1	3	rs13032294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:55404883T>C	ENST00000401408.1	-	12	1764	c.1419A>G	c.(1417-1419)caA>caG	p.Q473Q	CLHC1_ENST00000406437.2_Silent_p.Q24Q|CLHC1_ENST00000407122.1_Silent_p.Q473Q|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406076.1_Silent_p.Q351Q	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	473								p.Q473Q(2)									TTAATTCAACTTGGGGACATG	0.343													T|||	374	0.0746805	0.09	0.0288	5008	,	,		18576	0.1181		0.0497	False		,,,				2504	0.0675				p.Q473Q		Atlas-SNP	.											C2orf63_ENST00000407122,NS,carcinoma,0,2	.	.	2	2	Substitution - coding silent(2)	stomach(2)	c.A1419G						PASS	.	T	,	372,4034	188.1+/-214.6	18,336,1849	86	83	84		1053,1419	-0.8	0	2	dbSNP_121	84	468,8130	137.1+/-194.1	17,434,3848	no	coding-synonymous,coding-synonymous	C2orf63	NM_001135598.1,NM_152385.2	,	35,770,5697	CC,CT,TT		5.4431,8.443,6.4596	,	351/465,473/587	55404883	840,12164	2203	4299	6502	SO:0001819	synonymous_variant	130162	exon12			TTCAACTTGGGGA		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1419A>G	2.37:g.55404883T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	80	35	0.4375	NM_152385	B2RDV1|Q53R93|Q8N403	Silent	SNP	ENST00000401408.1	37	CCDS33201.1																																																																																			T|0.932;C|0.068	0.068	strong		0.343	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		C	55404883	T	C	55404883	2	2	23	1	0	0	0	0	0	0	0	1	2182	1606	56	3		3	C2orf63	2	55404883	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1271139	55404883	187794490	582	17038										
C2orf63	130162	hgsc.bcm.edu	37	chr2	55449464	55449464	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttctgtaattatgtatctTtgcacactttccaaaaattc	4	8	2	0	rs17852670	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:55449464T>C	ENST00000401408.1	-	3	429	c.84A>G	c.(82-84)caA>caG	p.Q28Q	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Silent_p.Q28Q|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	28																	TTATGTATCTTTGCACACTTT	0.353													T|||	1142	0.228035	0.1324	0.2248	5008	,	,		17106	0.3482		0.2107	False		,,,				2504	0.2536				p.Q28Q		Atlas-SNP	.											.	.	.	.	0			c.A84G						PASS	.	T	,	656,3748	281.9+/-276.2	59,538,1605	200	198	199		,84	1.9	1	2	dbSNP_123	199	1862,6738	333.7+/-320.7	206,1450,2644	no	intron,coding-synonymous	C2orf63	NM_001135598.1,NM_152385.2	,	265,1988,4249	CC,CT,TT		21.6512,14.8955,19.3633	,	,28/587	55449464	2518,10486	2202	4300	6502	SO:0001819	synonymous_variant	130162	exon3			GTATCTTTGCACA		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.84A>G	2.37:g.55449464T>C		Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	204	198	0.970588	NM_152385	B2RDV1|Q53R93|Q8N403	Silent	SNP	ENST00000401408.1	37	CCDS33201.1																																																																																			T|0.796;C|0.204	0.204	strong		0.353	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		C	55449464	T	C	55449464	2	2	23	1	0	0	0	0	0	0	0	1	2182	1838	64	2		2	C2orf63	2	55449464	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	44581	55449464	187749909	583	17039										
MTIF2	4528	hgsc.bcm.edu	37	chr2	55490788	55490788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaactaccttttttgttacTagaagcctatactgagataa	6	7	0	2	rs1134722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:55490788T>C	ENST00000263629.4	-	4	522	c.207A>G	c.(205-207)ctA>ctG	p.L69L	MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000394600.3_Silent_p.L69L|MTIF2_ENST00000403721.1_Silent_p.L69L	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	69					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L69L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTTTTGTTACTAGAAGCCTAT	0.493													T|||	300	0.0599042	0.0711	0.0331	5008	,	,		16067	0.0645		0.0517	False		,,,				2504	0.0675				p.L69L		Atlas-SNP	.											MTIF2,NS,carcinoma,0,1	MTIF2	64	1	1	Substitution - coding silent(1)	stomach(1)	c.A207G						PASS	.	T	,	302,4104	165.4+/-196.9	13,276,1914	66	64	65		207,207	-3.4	0.2	2	dbSNP_86	65	493,8107	141.9+/-198.1	20,453,3827	no	coding-synonymous,coding-synonymous	MTIF2	NM_001005369.1,NM_002453.2	,	33,729,5741	CC,CT,TT		5.7326,6.8543,6.1126	,	69/728,69/728	55490788	795,12211	2203	4300	6503	SO:0001819	synonymous_variant	4528	exon4			TGTTACTAGAAGC	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.207A>G	2.37:g.55490788T>C		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_002453	D6W5D0	Silent	SNP	ENST00000263629.4	37	CCDS1853.1																																																																																			T|0.941;C|0.059	0.059	strong		0.493	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		C	55490788	T	C	55490788	2	2	23	1	0	0	0	0	0	0	0	1	9934	1509	53	3		3	MTIF2	2	55490788	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	41324	55490788	187708585	584	17040										
KIAA1841	84542	hgsc.bcm.edu	37	chr2	61361326	61361326	+	Frame_Shift_Del	DEL	G	G	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaagagcaacagaaaaagtGgtttgagcagtgtgctcttg					rs142269591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:61361326delG	ENST00000295031.5	+	21	2460	c.2083delG	c.(2083-2085)ggtfs	p.G695fs		NM_032506.2	NP_115895.2	Q6NSI8	K1841_HUMAN	KIAA1841	0										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			cagaaaaagtggTTTGAGCAG	0.393													GG|GG|G|deletion	119	0.023762	0.0038	0.036	5008	,	,		21790	0.001		0.0736	False		,,,				2504	0.0143				p.S694fs		Pindel	.											.	KIAA1841	95	.	0			c.2082delT						PASS	.			74,4190		0,74,2058	171	143	152			0.8	0.1	2	dbSNP_134	161	685,7569		38,609,3480	no	frameshift	KIAA1841	NM_032506.2		38,683,5538	A1A1,A1R,RR		8.299,1.7355,6.0633			61361326	759,11759	2203	4286	6489	SO:0001589	frameshift_variant	84542	exon21			.	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	ENST00000295031.5:c.2083delG	2.37:g.61361326delG	ENSP00000295031:p.Gly695fs	Somatic	178	.	.		WXS	Illumina HiSeq	Phase_I	170	57	0.335	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Frame_Shift_Del	DEL	ENST00000295031.5	37	CCDS1867.1																																																																																			G|0.962;-|0.038	0.038	strong		0.393	KIAA1841-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251580.1	NM_032506		-	61361326	G	-	61361326	7	5	23	1	0	1	0	1	0	0	0	0	8261	1348	47	0	2294	0	KIAA1841	2	61361326	Frame_Shift_Del	DEL	G	TCGA-GR-7353-01A-11D-2210-10	5870538	61361326	181838047	585	17041										
USP34	9736	hgsc.bcm.edu	37	chr2	61415492	61415492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaactcagattcttcctcAgctagggtagaatccttgga	11	9	3	2	rs14170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:61415492A>G	ENST00000398571.2	-	80	10462	c.10386T>C	c.(10384-10386)gcT>gcC	p.A3462A	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3462					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTCTTCCTCAGCTAGGGTAG	0.453													A|||	2062	0.411741	0.4781	0.4164	5008	,	,		21759	0.3929		0.4901	False		,,,				2504	0.2577				p.A3462A		Atlas-SNP	.											.	USP34	334	.	0			c.T10386C						PASS	.	A		1798,1958		455,888,535	85	79	80		10386	-0.6	1	2	dbSNP_52	80	4028,4222		984,2060,1081	no	coding-synonymous	USP34	NM_014709.3		1439,2948,1616	GG,GA,AA		48.8242,47.8701,48.5257		3462/3547	61415492	5826,6180	1878	4125	6003	SO:0001819	synonymous_variant	9736	exon80			TTCCTCAGCTAGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10386T>C	2.37:g.61415492A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	91	38	0.417582	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	1003	0.4592490842490842	240	0.4878048780487805	165	0.4558011049723757	217	0.3793706293706294	381	0.5026385224274407	.	4.254	0.046111	0.08243	0.478701	0.488242	ENSG00000115464	ENST00000411912	.	.	.	5.52	-0.572	0.11745	.	.	.	.	.	.	.	.	.	.	.	0.18873	P	0.999985041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.133	0.06430	0.3824:0.1165:0.3872:0.1138	rs14170;rs3205597;rs3814034;rs11548862;rs17540386;rs17846593;rs17859675;rs61060947	.	.	.	R	1139	.	.	X	-	1	0	USP34	61268996	0.078000	0.21339	0.957000	0.39632	0.987000	0.75469	-0.555000	0.05999	0.049000	0.15920	0.482000	0.46254	TGA	A|0.525;G|0.475	0.475	strong		0.453	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61415492	A	G	61415492	2	3	23	1	0	0	0	0	0	0	0	1	17062	175	7	3		3	USP34	2	61415492	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	54166	61415492	181783881	586	17042										
FAM161A	84140	hgsc.bcm.edu	37	chr2	62067433	62067433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaggctccggtactgtaaTtgtgggcacccattcttttc	9	10	1	0	rs17513722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:62067433T>C	ENST00000405894.3	-	3	807	c.706A>G	c.(706-708)Att>Gtt	p.I236V	FAM161A_ENST00000404929.1_Missense_Mutation_p.I236V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	236			I -> V (in dbSNP:rs17513722).		cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTACTGTAATTGTGGGCACC	0.383													T|||	583	0.116414	0.0408	0.1427	5008	,	,		20146	0.0863		0.2227	False		,,,				2504	0.1217				p.I236V		Atlas-SNP	.											FAM161A_ENST00000405894,colon,carcinoma,+2,3	FAM161A	200	3	0			c.A706G						PASS	.	T	VAL/ILE,VAL/ILE	273,3413		10,253,1580	155	138	143		706,706	4.4	0.4	2	dbSNP_123	143	1956,6208		238,1480,2364	yes	missense,missense	FAM161A	NM_001201543.1,NM_032180.2	29,29	248,1733,3944	CC,CT,TT		23.9588,7.4064,18.8101	benign,benign	236/717,236/661	62067433	2229,9621	1843	4082	5925	SO:0001583	missense	84140	exon3			CTGTAATTGTGGG		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.706A>G	2.37:g.62067433T>C	ENSP00000385893:p.Ile236Val	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	227	88	0.387665	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	317	0.14514652014652016	23	0.046747967479674794	64	0.17679558011049723	56	0.0979020979020979	174	0.22955145118733508	T	12.18	1.860464	0.32884	0.074064	0.239588	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.30981	1.51;1.51	5.55	4.38	0.52667	.	0.219735	0.44285	D	0.000470	T	0.00012	0.0000	L	0.58428	1.81	0.34238	P	0.32269899999999996	P;B	0.49447	0.924;0.354	P;B	0.46543	0.52;0.138	T	0.26849	-1.0091	9	0.17369	T	0.5	-28.9171	7.9646	0.30091	0.0:0.0723:0.1388:0.7889	rs17513722;rs52827054;rs17513722	236;236	Q3B820;Q3B820-3	F161A_HUMAN;.	V	236	ENSP00000385158:I236V;ENSP00000385893:I236V	ENSP00000385158:I236V	I	-	1	0	FAM161A	61920937	0.782000	0.28689	0.442000	0.26870	0.375000	0.29983	1.029000	0.30140	0.919000	0.36945	0.533000	0.62120	ATT	T|0.844;C|0.156	0.156	strong		0.383	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62067433	T	C	62067433	3	2	23	1	0	0	0	0	1	0	0	0	5472	1493	52	2	1292	2	FAM161A	2	62067433	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	651941	62067433	181131940	587	17043										
OTX1	5013	hgsc.bcm.edu	37	chr2	63283178	63283178	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcaccacccgcaccagctCagccccatggcaccctcctc	5	23	2	0	rs17850223	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:63283178C>G	ENST00000282549.2	+	5	1068	c.792C>G	c.(790-792)ctC>ctG	p.L264L	OTX1_ENST00000366671.3_Silent_p.L264L	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	264					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L264L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CGCACCAGCTCAGCCCCATGG	0.642													C|||	621	0.124002	0.0257	0.2161	5008	,	,		17931	0.1806		0.1362	False		,,,				2504	0.1207				p.L264L		Atlas-SNP	.											OTX1,NS,carcinoma,0,1	OTX1	49	1	1	Substitution - coding silent(1)	stomach(1)	c.C792G						PASS	.	C	,	194,4212	122.9+/-160.3	9,176,2018	136	121	126		792,792	0.4	1	2	dbSNP_123	126	1138,7462	233.9+/-267.0	73,992,3235	no	coding-synonymous,coding-synonymous	OTX1	NM_001199770.1,NM_014562.3	,	82,1168,5253	GG,GC,CC		13.2326,4.4031,10.2414	,	264/355,264/355	63283178	1332,11674	2203	4300	6503	SO:0001819	synonymous_variant	5013	exon5			CCAGCTCAGCCCC		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.792C>G	2.37:g.63283178C>G		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	275	136	0.494545	NM_014562	A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	CCDS1873.1																																																																																			C|0.884;G|0.116	0.116	strong		0.642	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			G	63283178	C	G	63283178	2	3	23	1	0	0	0	0	0	0	0	1	11320	813	29	4		4	OTX1	2	63283178	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1215745	63283178	179916195	588	17044										
SLC1A4	6509	hgsc.bcm.edu	37	chr2	65217089	65217089	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtgtcgggcgccgcctcGctcgatgccagctgcctcgg	15	16	0	0	rs7559202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:65217089G>C	ENST00000234256.3	+	1	555	c.312G>C	c.(310-312)tcG>tcC	p.S104S	SLC1A4_ENST00000493121.1_Intron|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	104					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GCGCCGCCTCGCTCGATGCCA	0.682													C|||	881	0.175919	0.1778	0.1167	5008	,	,		13619	0.2401		0.169	False		,,,				2504	0.1564				p.S104S		Atlas-SNP	.											.	SLC1A4	33	.	0			c.G312C						PASS	.	C	,	717,3669		70,577,1546	9	10	10		,312	-1.5	0.8	2	dbSNP_116	10	1187,7369		91,1005,3182	no	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	161,1582,4728	CC,CG,GG		13.8733,16.3475,14.7118	,	,104/533	65217089	1904,11038	2193	4278	6471	SO:0001819	synonymous_variant	6509	exon1			CGCCTCGCTCGAT		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.312G>C	2.37:g.65217089G>C		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_003038	B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																			G|0.815;C|0.185	0.185	strong		0.682	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		C	65217089	G	C	65217089	2	2	23	1	0	0	0	0	0	0	0	1	14434	1074	38	4		4	SLC1A4	2	65217089	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1933911	65217089	177982284	589	17045										
SLC1A4	6509	hgsc.bcm.edu	37	chr2	65245365	65245365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattgcgcaactcaacaacGtagagctcaacgcaggacag	9	12	3	1	rs759458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:65245365G>A	ENST00000234256.3	+	6	1438	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	SLC1A4_ENST00000531327.1_Missense_Mutation_p.V101I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	399			V -> I (in dbSNP:rs759458).		amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACTCAACAACGTAGAGCTCAA	0.493													G|||	961	0.191893	0.1354	0.1945	5008	,	,		21801	0.1091		0.2435	False		,,,				2504	0.2986				p.V399I		Atlas-SNP	.											SLC1A4,NS,carcinoma,-2,1	SLC1A4	33	1	0			c.G1195A						PASS	.	G	ILE/VAL,ILE/VAL	772,3634	313.0+/-292.9	68,636,1499	142	131	135		301,1195	0.2	0	2	dbSNP_86	135	2257,6343	382.3+/-340.3	297,1663,2340	yes	missense,missense	SLC1A4	NM_001193493.1,NM_003038.4	29,29	365,2299,3839	AA,AG,GG		26.2442,17.5216,23.2893	benign,benign	101/235,399/533	65245365	3029,9977	2203	4300	6503	SO:0001583	missense	6509	exon6			AACAACGTAGAGC		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1195G>A	2.37:g.65245365G>A	ENSP00000234256:p.Val399Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	108	41	0.37963	NM_003038	B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	CCDS1879.1	393	0.17994505494505494	59	0.11991869918699187	88	0.2430939226519337	62	0.10839160839160839	184	0.24274406332453827	G	5.480	0.273673	0.10403	0.175216	0.262442	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.58940	0.3;0.3	6.17	0.22	0.15279	.	0.444350	0.25711	N	0.028808	T	0.00012	0.0000	N	0.10809	0.05	0.80722	P	0.0	B;B;B	0.18166	0.002;0.026;0.002	B;B;B	0.13407	0.002;0.009;0.004	T	0.24799	-1.0150	8	.	.	.	-27.4704	5.6816	0.17780	0.2405:0.0:0.565:0.1945	rs759458;rs1064513;rs59381701;rs759458	399;101;399	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	I	101;319;399	ENSP00000431942:V101I;ENSP00000234256:V399I	.	V	+	1	0	SLC1A4	65098869	0.004000	0.15560	0.003000	0.11579	0.253000	0.25986	0.495000	0.22483	-0.237000	0.09739	0.655000	0.94253	GTA	G|0.791;N|0.001	.	strong		0.493	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		A	65245365	G	A	65245365	3	1	23	1	0	0	0	0	1	0	0	0	14434	1145	40	1	1217	1	SLC1A4	2	65245365	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28276	65245365	177954008	590	17046										
CEP68	23177	hgsc.bcm.edu	37	chr2	65296798	65296798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggattgggactgaccctggcGgcccctctagagcccaccag	13	15	1	2	rs7572857	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:65296798G>A	ENST00000377990.2	+	2	423	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	CEP68_ENST00000546106.1_Missense_Mutation_p.G74S|CEP68_ENST00000260569.4_Missense_Mutation_p.G74S|CEP68_ENST00000537589.1_Intron|RAB1A_ENST00000494188.1_5'Flank	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	74			G -> S (in dbSNP:rs7572857). {ECO:0000269|PubMed:15489334}.		centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G74S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGACCCTGGCGGCCCCTCTAG	0.647													G|||	578	0.115415	0.0076	0.1239	5008	,	,		16521	0.0913		0.171	False		,,,				2504	0.2229				p.G74S		Atlas-SNP	.											CEP68,NS,carcinoma,0,1	CEP68	69	1	1	Substitution - Missense(1)	prostate(1)	c.G220A						PASS	.	G	SER/GLY	170,4236	105.2+/-143.6	3,164,2036	33	38	36		220	-5.9	0	2	dbSNP_116	36	1514,7086	270.2+/-288.9	142,1230,2928	yes	missense	CEP68	NM_015147.2	56	145,1394,4964	AA,AG,GG		17.6047,3.8584,12.9479	benign	74/758	65296798	1684,11322	2203	4300	6503	SO:0001583	missense	23177	exon2			CCTGGCGGCCCCT	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.220G>A	2.37:g.65296798G>A	ENSP00000367229:p.Gly74Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	103	45	0.436893	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	244	0.11172161172161173	2	0.0040650406504065045	53	0.1464088397790055	55	0.09615384615384616	134	0.17678100263852242	G	4.206	0.036901	0.08148	0.038584	0.176047	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.19105	2.17;2.17;2.17	3.83	-5.92	0.02261	.	0.556823	0.15431	N	0.262729	T	0.00012	0.0000	N	0.03608	-0.345	0.53005	P	4.0000000000040004E-5	B;B;B;B;B	0.21520	0.057;0.057;0.014;0.003;0.057	B;B;B;B;B	0.14578	0.007;0.004;0.004;0.003;0.011	T	0.32561	-0.9902	9	0.11794	T	0.64	.	4.7843	0.13217	0.5233:0.0:0.1875:0.2891	rs7572857;rs17849706;rs17849872;rs52812658;rs60638735;rs7572857	62;74;74;74;74	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	S	74;74;74;62	ENSP00000367229:G74S;ENSP00000438306:G74S;ENSP00000260569:G74S	ENSP00000260569:G74S	G	+	1	0	CEP68	65150302	0.000000	0.05858	0.003000	0.11579	0.077000	0.17291	-1.258000	0.02863	-1.411000	0.02032	-1.012000	0.02466	GGC	G|0.877;A|0.122	0.122	strong		0.647	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65296798	G	A	65296798	3	1	23	1	0	0	0	0	1	0	0	0	3258	1116	39	1	222	1	CEP68	2	65296798	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	51433	65296798	177902575	591	17047										
CEP68	23177	hgsc.bcm.edu	37	chr2	65298839	65298839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatctctgcttcctccacAggcagcagtctccagggtca	9	15	3	0	rs17849707	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:65298839A>G	ENST00000377990.2	+	3	812	c.609A>G	c.(607-609)acA>acG	p.T203T	CEP68_ENST00000546106.1_Silent_p.T203T|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Silent_p.T203T|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	203					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTCCTCCACAGGCAGCAGTC	0.632													A|||	1239	0.247404	0.1475	0.2738	5008	,	,		19795	0.3304		0.2256	False		,,,				2504	0.3006				p.T203T		Atlas-SNP	.											.	CEP68	69	.	0			c.A609G						PASS	.	A		780,3626	314.1+/-293.5	70,640,1493	49	49	49		609	-12	0	2	dbSNP_123	49	2010,6590	350.0+/-327.7	251,1508,2541	no	coding-synonymous	CEP68	NM_015147.2		321,2148,4034	GG,GA,AA		23.3721,17.7031,21.4516		203/758	65298839	2790,10216	2203	4300	6503	SO:0001819	synonymous_variant	23177	exon3			CTCCACAGGCAGC	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.609A>G	2.37:g.65298839A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																			A|0.773;G|0.227	0.227	strong		0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		G	65298839	A	G	65298839	2	3	23	1	0	0	0	0	0	0	0	1	3258	175	7	3		3	CEP68	2	65298839	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2041	65298839	177900534	592	17048										
ARHGAP25	9938	hgsc.bcm.edu	37	chr2	69040500	69040500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgtggttccctggagccaGtacgaagggttcctgctctg	13	13	1	0	rs2280310	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:69040500G>A	ENST00000295381.3	+	6	1172	c.753G>A	c.(751-753)caG>caA	p.Q251Q	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.Q212Q|ARHGAP25_ENST00000497079.1_Silent_p.Q245Q|ARHGAP25_ENST00000409220.1_Silent_p.Q245Q|ARHGAP25_ENST00000409030.3_Silent_p.Q244Q|ARHGAP25_ENST00000409202.3_Silent_p.Q252Q|ARHGAP25_ENST00000544262.1_Silent_p.Q226Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q245Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCCAGTACGAAGGGT	0.512													G|||	1491	0.297724	0.2927	0.3213	5008	,	,		19180	0.4425		0.1839	False		,,,				2504	0.2556				p.Q252Q		Atlas-SNP	.											ARHGAP25,NS,carcinoma,0,1	ARHGAP25	175	1	1	Substitution - coding silent(1)	stomach(1)	c.G756A						PASS	.	G	,,,	1189,3217	416.7+/-337.7	153,883,1167	108	94	99		756,735,636,732	3.6	1	2	dbSNP_100	99	1653,6947	305.0+/-307.2	171,1311,2818	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	,,,	324,2194,3985	AA,AG,GG		19.2209,26.9859,21.8515	,,,	252/647,245/640,212/607,244/639	69040500	2842,10164	2203	4300	6503	SO:0001819	synonymous_variant	9938	exon6			GAGCCAGTACGAA	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.753G>A	2.37:g.69040500G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	106	49	0.462264	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		616	0.28205128205128205	140	0.2845528455284553	112	0.30939226519337015	225	0.39335664335664333	139	0.18337730870712401	G	9.214	1.031745	0.19590	0.269859	0.192209	ENSG00000163219	ENST00000497259	.	.	.	5.73	3.62	0.41486	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.38351	-0.9665	3	.	.	.	.	12.3657	0.55226	0.1637:0.0:0.8363:0.0	rs2280310;rs58055279;rs2280310	.	.	.	N	111	.	.	S	+	2	0	ARHGAP25	68894004	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.624000	0.24462	1.432000	0.47375	0.655000	0.94253	AGT	G|0.744;A|0.256	0.256	strong		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69040500	G	A	69040500	2	1	23	1	0	0	0	0	0	0	0	1	874	1020	36	2		2	ARHGAP25	2	69040500	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3741661	69040500	174158873	593	17049										
ARHGAP25	9938	hgsc.bcm.edu	37	chr2	69049939	69049939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaattgattctttgcagagGatggtccaagagctacgaaa	11	6	1	3	rs4241344	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:69049939G>T	ENST00000295381.3	+	10	2084	c.1665G>T	c.(1663-1665)agG>agT	p.R555S	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R516S|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R249S|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R549S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R548S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R556S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	555			R -> S (in dbSNP:rs4241344). {ECO:0000269|PubMed:14702039}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTTTGCAGAGGATGGTCCAAG	0.448													G|||	1332	0.265974	0.1725	0.3156	5008	,	,		20655	0.4435		0.1869	False		,,,				2504	0.2556				p.R556S		Atlas-SNP	.											.	ARHGAP25	175	.	0			c.G1668T						PASS	.	G	SER/ARG,SER/ARG,SER/ARG,SER/ARG	758,3646	286.0+/-278.5	53,652,1497	70	78	75		1668,1647,1548,1644	3.5	0.7	2	dbSNP_111	75	1644,6956	282.4+/-295.5	170,1304,2826	yes	missense,missense,missense,missense	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	110,110,110,110	223,1956,4323	TT,TG,GG		19.1163,17.2116,18.4712	benign,benign,benign,benign	556/647,549/640,516/607,548/639	69049939	2402,10602	2202	4300	6502	SO:0001583	missense	9938	exon10			GCAGAGGATGGTC	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1665G>T	2.37:g.69049939G>T	ENSP00000295381:p.Arg555Ser	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		554|554	0.25366300366300365|0.25366300366300365	78|78	0.15853658536585366|0.15853658536585366	109|109	0.3011049723756906|0.3011049723756906	224|224	0.3916083916083916|0.3916083916083916	143|143	0.18865435356200527|0.18865435356200527	G|G	2.826|2.826	-0.243736|-0.243736	0.05906|0.05906	0.172116|0.172116	0.191163|0.191163	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T	.|0.38560	.|3.05;3.05;2.8;1.13;1.13;1.13	5.42|5.42	3.55|3.55	0.40652|0.40652	.|.	.|0.731496	.|0.14039	.|N	.|0.345562	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.26403|0.26403	P|P	0.976394|0.976394	.|B;B;B;B;B	.|0.06786	.|0.001;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0;0.0	T|T	0.43925|0.43925	-0.9361|-0.9361	4|9	.|0.07030	.|T	.|0.85	.|.	1.9238|1.9238	0.03313|0.03313	0.1885:0.154:0.4993:0.1582|0.1885:0.154:0.4993:0.1582	rs4241344;rs52800040;rs60408659;rs4241344|rs4241344;rs52800040;rs60408659;rs4241344	.|516;556;549;548;555	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.|.;.;.;.;RHG25_HUMAN	V|S	415|555;556;516;548;549;549;540;249	.|ENSP00000295381:R555S;ENSP00000386911:R556S;ENSP00000420583:R516S;ENSP00000386863:R548S;ENSP00000386241:R549S;ENSP00000417467:R249S	.|ENSP00000295381:R555S	G|R	+|+	2|3	0|2	ARHGAP25|ARHGAP25	68903443|68903443	0.001000|0.001000	0.12720|0.12720	0.746000|0.746000	0.31095|0.31095	0.615000|0.615000	0.37417|0.37417	0.193000|0.193000	0.17116|0.17116	0.698000|0.698000	0.31739|0.31739	0.557000|0.557000	0.71058|0.71058	GGA|AGG	G|0.789;T|0.211	0.211	strong		0.448	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		T	69049939	G	T	69049939	3	4	23	1	0	0	0	0	1	0	0	0	874	1165	41	4	1746	4	ARHGAP25	2	69049939	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9439	69049939	174149434	594	17050										
AAK1	22848	hgsc.bcm.edu	37	chr2	69709919	69709919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagaagagaagtgtcaggAgatttgagtccctcaattag	12	6	2	4	rs6721259	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:69709919A>G	ENST00000409085.4	-	18	2767	c.2391T>C	c.(2389-2391)tcT>tcC	p.S797S	AAK1_ENST00000406297.3_Silent_p.S797S|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	797					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						AAGTGTCAGGAGATTTGAGTC	0.398													A|||	715	0.142772	0.2141	0.1023	5008	,	,		21839	0.0407		0.1938	False		,,,				2504	0.1278				p.S797S		Atlas-SNP	.											.	AAK1	121	.	0			c.T2391C						PASS	.	A		705,3121		69,567,1277	138	142	141		2391	4.8	1	2	dbSNP_116	141	1410,6856		128,1154,2851	no	coding-synonymous	AAK1	NM_014911.3		197,1721,4128	GG,GA,AA		17.0578,18.4266,17.4909		797/962	69709919	2115,9977	1913	4133	6046	SO:0001819	synonymous_variant	22848	exon18			GTCAGGAGATTTG	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.2391T>C	2.37:g.69709919A>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	122	55	0.45082	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																			A|0.862;G|0.138	0.138	strong		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		G	69709919	A	G	69709919	2	3	23	1	0	0	0	0	0	0	0	1	16	291	11	3		3	AAK1	2	69709919	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	659980	69709919	173489454	595	17051										
ASPRV1	151516	hgsc.bcm.edu	37	chr2	70188676	70188676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggggcctctcgaagcagagTggggatgacttgcccggcct	16	12	1	2	rs3796097	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:70188676T>C	ENST00000320256.4	-	1	721	c.145A>G	c.(145-147)Act>Gct	p.T49A	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CGAAGCAGAGTGGGGATGACT	0.637													C|||	3496	0.698083	0.9145	0.7421	5008	,	,		17996	0.6815		0.503	False		,,,				2504	0.592				p.T49A		Atlas-SNP	.											.	ASPRV1	41	.	0			c.A145G						PASS	.	C	ALA/THR	3733,673	283.1+/-276.9	1585,563,55	45	46	46		145	-4.7	0	2	dbSNP_107	46	4480,4120	560.7+/-387.6	1171,2138,991	yes	missense	ASPRV1	NM_152792.2	58	2756,2701,1046	CC,CT,TT		47.907,15.2746,36.8522	benign	49/344	70188676	8213,4793	2203	4300	6503	SO:0001583	missense	151516	exon1			GCAGAGTGGGGAT	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.145A>G	2.37:g.70188676T>C	ENSP00000315383:p.Thr49Ala	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	86	39	0.453488	NM_152792		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	1456	0.6666666666666666	450	0.9146341463414634	255	0.7044198895027625	370	0.6468531468531469	381	0.5026385224274407	C	2.190	-0.385484	0.04966	0.847254	0.52093	ENSG00000244617	ENST00000320256	T	0.43294	0.95	3.88	-4.7	0.03288	.	1.015840	0.07926	N	0.976770	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.23868	-1.0176	9	0.27082	T	0.32	.	11.8715	0.52523	0.0:0.5647:0.0:0.4353	rs3796097;rs13025324;rs3796097	49	Q53RT3	APRV1_HUMAN	A	49	ENSP00000315383:T49A	ENSP00000315383:T49A	T	-	1	0	ASPRV1	70042180	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.869000	0.04232	-1.206000	0.02641	-1.088000	0.02184	ACT	T|0.345;C|0.655	0.655	strong		0.637	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		C	70188676	T	C	70188676	3	2	23	1	0	0	0	0	1	0	0	0	1058	1696	59	2	890	2	ASPRV1	2	70188676	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	478757	70188676	173010697	596	17052										
CD207	50489	hgsc.bcm.edu	37	chr2	71062648	71062648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcctgcagcaggacggagGcgaccaggaccagcgtcagg	17	13	1	0	rs10489990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:71062648G>A	ENST00000410009.3	-	2	209	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	55			A -> V (in dbSNP:rs10489990).		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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.A55V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CAGGACGGAGGCGACCAGGAC	0.602													G|||	1424	0.284345	0.1346	0.3963	5008	,	,		19468	0.3075		0.3608	False		,,,				2504	0.3047				p.A55V		Atlas-SNP	.											CD207,NS,carcinoma,0,1	CD207	47	1	1	Substitution - Missense(1)	stomach(1)	c.C164T						PASS	.	G	VAL/ALA	640,3582		45,550,1516	68	77	74		164	4	0	2	dbSNP_119	74	2952,5510		522,1908,1801	yes	missense	CD207	NM_015717.3	64	567,2458,3317	AA,AG,GG		34.8854,15.1587,28.3191	possibly-damaging	55/329	71062648	3592,9092	2111	4231	6342	SO:0001583	missense	50489	exon2			ACGGAGGCGACCA	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.164C>T	2.37:g.71062648G>A	ENSP00000386378:p.Ala55Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	136	55	0.404412	NM_015717		Missense_Mutation	SNP	ENST00000410009.3	37		645	0.29532967032967034	66	0.13414634146341464	137	0.3784530386740331	181	0.31643356643356646	261	0.34432717678100266	G	16.18	3.049152	0.55110	0.151587	0.348854	ENSG00000116031	ENST00000410009	T	0.04156	3.69	4.87	4.0	0.46444	.	0.407067	0.21670	N	0.070893	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.30068	0.267	B	0.30401	0.115	T	0.42464	-0.9450	9	0.11182	T	0.66	.	9.7514	0.40478	0.0984:0.0:0.9016:0.0	rs10489990;rs52834864;rs59407760;rs10489990	55	Q9UJ71	CLC4K_HUMAN	V	55	ENSP00000386378:A55V	ENSP00000386378:A55V	A	-	2	0	CD207	70916156	0.695000	0.27747	0.024000	0.17045	0.048000	0.14542	2.131000	0.42074	1.365000	0.46057	-0.136000	0.14681	GCC	G|0.716;A|0.284	0.284	strong		0.602	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		A	71062648	G	A	71062648	3	1	23	1	0	0	0	0	1	0	0	0	2983	1203	42	2	842	2	CD207	2	71062648	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	873972	71062648	172136725	597	17053										
NAGK	55577	hgsc.bcm.edu	37	chr2	71297695	71297695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatcctggcagaagcagaTggactgagcacaaaccactg	11	10	0	4	rs2287328	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:71297695T>C	ENST00000244204.6	+	2	155	c.93T>C	c.(91-93)gaT>gaC	p.D31D	NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443872.2_Intron|NAGK_ENST00000455662.2_Silent_p.D77D|NAGK_ENST00000443938.2_Silent_p.D31D|NAGK_ENST00000418807.3_Intron|RP11-467P9.1_ENST00000608897.1_lincRNA			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	31					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CAGAAGCAGATGGACTGAGCA	0.507											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	718	0.143371	0.115	0.1729	5008	,	,		20063	0.1438		0.1431	False		,,,				2504	0.1605				p.D77D		Atlas-SNP	.											.	NAGK	34	.	0			c.T231C						PASS	.	T		624,3782	269.5+/-269.1	45,534,1624	93	99	97		231	-3.1	1	2	dbSNP_100	97	1344,7256	264.3+/-285.5	115,1114,3071	yes	coding-synonymous	NAGK	NM_017567.4		160,1648,4695	CC,CT,TT		15.6279,14.1625,15.1315		77/391	71297695	1968,11038	2203	4300	6503	SO:0001819	synonymous_variant	55577	exon2			AGCAGATGGACTG	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.93T>C	2.37:g.71297695T>C		Somatic	131	0	0	1128	WXS	Illumina HiSeq	Phase_I	92	43	0.467391	NM_017567	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37		304	0.1391941391941392	61	0.12398373983739837	64	0.17679558011049723	71	0.12412587412587413	108	0.1424802110817942	T	10.39	1.337451	0.24253	0.141625	0.156279	ENSG00000124357	ENST00000443938	.	.	.	4.95	-3.11	0.05299	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.27262	-1.0079	3	.	.	.	-10.7669	6.0596	0.19830	0.3968:0.0:0.3727:0.2306	rs2287328;rs17501162;rs2287328	.	.	.	T	53	.	.	M	+	2	0	NAGK	71151203	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	0.766000	0.26560	-0.245000	0.09625	-0.490000	0.04691	ATG	T|0.851;C|0.149	0.149	strong		0.507	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			C	71297695	T	C	71297695	2	2	23	1	0	0	0	0	0	0	0	1	10142	1461	51	2		2	NAGK	2	71297695	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	235047	71297695	171901678	598	17054										
ZNF638	27332	hgsc.bcm.edu	37	chr2	71577132	71577132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctgtaagccagcaagagCggatcccacatgaacctgtg	10	12	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:71577132C>T	ENST00000409544.1	+	2	1678	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	ZNF638_ENST00000264447.4_Missense_Mutation_p.R350W|ZNF638_ENST00000355812.3_Missense_Mutation_p.R350W|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.R350W	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	350					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAGCAAGAGCGGATCCCACA	0.423																																					p.R350W		Atlas-SNP	.											ZNF638,rectum,carcinoma,0,4	ZNF638	179	4	0			c.C1048T						scavenged	.						127	126	126					2																	71577132		2203	4300	6503	SO:0001583	missense	27332	exon2			CAAGAGCGGATCC	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1048C>T	2.37:g.71577132C>T	ENSP00000386433:p.Arg350Trp	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925108	0.34002	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.78003	-0.55;-1.14;0.01;-0.54;0.99;0.99	5.88	2.78	0.32641	.	0.171583	0.48767	D	0.000161	T	0.78880	0.4353	N	0.24115	0.695	0.31602	N	0.652565	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.995;0.995;0.997;0.993;0.995	T	0.80336	-0.1425	10	0.87932	D	0	-2.9758	11.5861	0.50918	0.5869:0.4131:0.0:0.0	.	456;350;350;350;350	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	W	350;456;350;350;350;350	ENSP00000386669:R350W;ENSP00000438189:R456W;ENSP00000348066:R350W;ENSP00000367033:R350W;ENSP00000264447:R350W;ENSP00000386433:R350W	ENSP00000264447:R350W	R	+	1	2	ZNF638	71430640	0.426000	0.25506	0.642000	0.29436	0.654000	0.38779	1.015000	0.29963	0.789000	0.33779	-0.181000	0.13052	CGG	.	.	none		0.423	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		T	71577132	C	T	71577132	3	4	23	1	0	0	0	0	1	0	0	0	18052	759	27	1	1050	1	ZNF638	2	71577132	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	279437	71577132	171622241	599	17055										
EXOC6B	23233	hgsc.bcm.edu	37	chr2	72958333	72958333	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcagaaatatttctctgTtgtagtcgacactgcttcag	10	8	2	1	rs61736520	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:72958333T>C	ENST00000272427.6	-	4	499	c.369A>G	c.(367-369)caA>caG	p.Q123Q	EXOC6B_ENST00000410104.1_Silent_p.Q123Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	123					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TATTTCTCTGTTGTAGTCGAC	0.383													T|||	1002	0.20008	0.5968	0.0994	5008	,	,		18213	0.001		0.1213	False		,,,				2504	0.0215				p.Q123Q		Atlas-SNP	.											.	EXOC6B	93	.	0			c.A369G						PASS	.	T		1734,1952		422,890,531	60	59	60		369	2.2	1	2	dbSNP_129	60	940,7274		48,844,3215	no	coding-synonymous	EXOC6B	NM_015189.1		470,1734,3746	CC,CT,TT		11.4439,47.0429,22.4706		123/812	72958333	2674,9226	1843	4107	5950	SO:0001819	synonymous_variant	23233	exon4			TCTCTGTTGTAGT	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.369A>G	2.37:g.72958333T>C		Somatic	397	0	0		WXS	Illumina HiSeq	Phase_I	387	184	0.475452	NM_015189	B8ZZY3	Silent	SNP	ENST00000272427.6	37	CCDS46333.1																																																																																			T|0.816;C|0.184	0.184	strong		0.383	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		C	72958333	T	C	72958333	2	2	23	1	0	0	0	0	0	0	0	1	5309	1722	60	2		2	EXOC6B	2	72958333	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1381201	72958333	170241040	600	17056										
WBP1	23559	hgsc.bcm.edu	37	chr2	74687781	74687781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatctttcccatggggctGtcttccagtgaaggggacat	12	10	2	2	rs61733470	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:74687781G>A	ENST00000233615.2	+	4	1057	c.783G>A	c.(781-783)ctG>ctA	p.L261L	WBP1_ENST00000409737.1_Silent_p.L258L|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Silent_p.L295L	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	261							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCATGGGGCTGTCTTCCAGTG	0.552													G|||	124	0.0247604	0.0	0.0231	5008	,	,		20306	0.0		0.0417	False		,,,				2504	0.0675				p.L261L		Atlas-SNP	.											.	WBP1	35	.	0			c.G783A						PASS	.	G		41,4363	42.3+/-75.8	0,41,2161	41	37	38		783	2.5	1	2	dbSNP_129	38	458,8140	131.7+/-189.4	15,428,3856	no	coding-synonymous	WBP1	NM_012477.3		15,469,6017	AA,AG,GG		5.3268,0.931,3.8379		261/270	74687781	499,12503	2202	4299	6501	SO:0001819	synonymous_variant	23559	exon4			GGGGCTGTCTTCC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.783G>A	2.37:g.74687781G>A		Somatic	294	1	0.00340136		WXS	Illumina HiSeq	Phase_I	255	117	0.458824	NM_012477	B2RE02|O95637	Silent	SNP	ENST00000233615.2	37	CCDS1943.1																																																																																			G|0.970;A|0.030	0.030	strong		0.552	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		A	74687781	G	A	74687781	2	1	23	1	0	0	0	0	0	0	0	1	17254	1364	48	2		2	WBP1	2	74687781	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1729448	74687781	168511592	601	17057										
DQX1	165545	hgsc.bcm.edu	37	chr2	74746757	74746757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagccaaaggctggtagggAcaagggaagttcaattcgtt	14	6	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:74746757A>G	ENST00000404568.3	-	10	1951	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	DQX1_ENST00000393951.2_Missense_Mutation_p.S578P	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	578						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTGGTAGGGACAAGGGAAGT	0.522																																					p.S578P		Atlas-SNP	.											DQX1_ENST00000404568,NS,malignant_melanoma,+1,2	DQX1	95	2	0			c.T1732C						scavenged	.						148	143	145					2																	74746757		2203	4300	6503	SO:0001583	missense	165545	exon10			GTAGGGACAAGGG	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1732T>C	2.37:g.74746757A>G	ENSP00000384621:p.Ser578Pro	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	181	3	0.0165746	NM_133637	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122542	0.77436	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03212	4.01;4.01	5.69	5.69	0.88448	Domain of unknown function DUF1605 (1);	0.000000	0.64402	D	0.000002	T	0.15392	0.0371	M	0.79475	2.455	0.45108	D	0.998126	D	0.89917	1.0	D	0.77557	0.99	T	0.01030	-1.1475	10	0.35671	T	0.21	-16.7963	9.2335	0.37453	0.8387:0.0:0.0:0.1613	.	578	Q8TE96	DQX1_HUMAN	P	578	ENSP00000377523:S578P;ENSP00000384621:S578P	ENSP00000377523:S578P	S	-	1	0	DQX1	74600265	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.627000	0.67784	2.157000	0.67596	0.533000	0.62120	TCC	.	.	none		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		G	74746757	A	G	74746757	3	3	23	1	0	0	0	0	1	0	0	0	4751	275	10	2	433	2	DQX1	2	74746757	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	58976	74746757	168452616	602	17058										
LRRTM1	347730	hgsc.bcm.edu	37	chr2	80529918	80529918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgcgtactccgggctggCgcactgcaagttgccatcgt	13	13	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:80529918C>T	ENST00000295057.3	-	2	1683	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A343T|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	343	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCCGGGCTGGCGCACTGCAAG	0.677										HNSCC(69;0.2)																											p.A343T		Atlas-SNP	.											LRRTM1_ENST00000295057,colon,carcinoma,+1,2	LRRTM1	251	2	0			c.G1027A						scavenged	.						25	23	24					2																	80529918		2203	4300	6503	SO:0001583	missense	347730	exon2			GGCTGGCGCACTG	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1027G>A	2.37:g.80529918C>T	ENSP00000295057:p.Ala343Thr	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	135	3	0.0222222	NM_178839	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682590	0.29872	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44482	0.92;0.92	5.32	3.48	0.39840	.	0.144128	0.46442	U	0.000283	T	0.30198	0.0757	L	0.42529	1.33	0.44745	D	0.997742	B	0.16603	0.018	B	0.10450	0.005	T	0.07158	-1.0787	9	.	.	.	.	6.4844	0.22081	0.1473:0.7034:0.0:0.1493	.	343	Q86UE6	LRRT1_HUMAN	T	343	ENSP00000295057:A343T;ENSP00000386646:A343T	.	A	-	1	0	LRRTM1	80383429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.311000	0.51919	0.566000	0.29273	0.655000	0.94253	GCC	.	.	none		0.677	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		T	80529918	C	T	80529918	3	4	23	1	0	0	0	0	1	0	0	0	9039	768	27	1	545	1	LRRTM1	2	80529918	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5783161	80529918	162669455	603	17059										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84926756	84926756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaaagtgcgtcagaagctGcacattgttctctgcatgag	11	9	2	2	rs74514752	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:84926756G>A	ENST00000237449.6	+	47	7724	c.7716G>A	c.(7714-7716)ctG>ctA	p.L2572L	DNAH6_ENST00000389394.3_Silent_p.L2572L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2572	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTCAGAAGCTGCACATTGTTC	0.408													G|||	23	0.00459265	0.0023	0.0101	5008	,	,		20442	0.0		0.0109	False		,,,				2504	0.002				p.L2572L		Atlas-SNP	.											.	DNAH6	194	.	0			c.G7716A						PASS	.	G		3,1381		0,3,689	113	92	99		7716	-0.2	1	2	dbSNP_132	99	43,3139		1,41,1549	no	coding-synonymous	DNAH6	NM_001370.1		1,44,2238	AA,AG,GG		1.3514,0.2168,1.0074		2572/4159	84926756	46,4520	692	1591	2283	SO:0001819	synonymous_variant	1768	exon48			GAAGCTGCACATT	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7716G>A	2.37:g.84926756G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			G|0.994;A|0.006	0.006	strong		0.408	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84926756	G	A	84926756	2	1	23	1	0	0	0	0	0	0	0	1	4605	1306	46	2		2	DNAH6	2	84926756	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4396838	84926756	158272617	604	17060										
ST3GAL5	8869	hgsc.bcm.edu	37	chr2	86088311	86088311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggatatctaacctttacaTggtcagggtccacataatgc	9	9	2	0	rs1138484	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:86088311T>C	ENST00000377332.3	-	3	419	c.311A>G	c.(310-312)cAt>cGt	p.H104R	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.H81R|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.H76R|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.H104R	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	104			H -> R (in dbSNP:rs3731824). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9822625, ECO:0000269|Ref.2}.		carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AACCTTTACATGGTCAGGGTC	0.338													C|||	1047	0.209065	0.0605	0.1527	5008	,	,		20921	0.2937		0.1968	False		,,,				2504	0.3753				p.H104R		Atlas-SNP	.											.	ST3GAL5	51	.	0			c.A311G						PASS	.	C	ARG/HIS,ARG/HIS	334,4072	795.3+/-415.3	17,300,1886	116	109	111		242,311	5	0.7	2	dbSNP_107	111	1705,6895	737.1+/-407.0	173,1359,2768	yes	missense,missense	ST3GAL5	NM_001042437.1,NM_003896.3	29,29	190,1659,4654	CC,CT,TT		19.8256,7.5806,15.6774	benign,benign	81/396,104/419	86088311	2039,10967	2203	4300	6503	SO:0001583	missense	8869	exon3			TTTACATGGTCAG	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.311A>G	2.37:g.86088311T>C	ENSP00000366549:p.His104Arg	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	120	60	0.5	NM_003896	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	CCDS1986.2	405	0.18543956043956045	28	0.056910569105691054	73	0.20165745856353592	169	0.29545454545454547	135	0.17810026385224276	C	0.240	-1.014477	0.02095	0.075806	0.198256	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.36878	1.71;1.71;1.72;1.23;1.29	5.84	4.96	0.65561	.	0.494910	0.22557	N	0.058515	T	0.00012	0.0000	N	0.01168	-0.975	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35798	-0.9774	9	0.02654	T	1	-4.2027	9.0708	0.36491	0.0:0.8325:0.0:0.1675	rs3731824;rs52830384;rs60063777;rs3731824	104;104;81	G3V199;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	R	81;76;104;76;104	ENSP00000377397:H81R;ENSP00000377394:H76R;ENSP00000366549:H104R;ENSP00000401375:H76R;ENSP00000433607:H104R	ENSP00000306247:H104R	H	-	2	0	ST3GAL5	85941822	0.674000	0.27549	0.655000	0.29622	0.439000	0.31926	0.845000	0.27668	0.821000	0.34540	-0.119000	0.15052	CAT	T|0.829;C|0.171	0.171	strong		0.338	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		C	86088311	T	C	86088311	3	2	23	1	0	0	0	0	1	0	0	0	15217	1464	51	2	965	2	ST3GAL5	2	86088311	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1161555	86088311	157111062	605	17061										
IMMT	10989	hgsc.bcm.edu	37	chr2	86385728	86385728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactcactcattcctttccaCccaggaaggacttctggagt	7	13	3	0	rs1131071	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:86385728C>T	ENST00000410111.3	-	10	1536	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	IMMT_ENST00000449247.2_Silent_p.G372G|IMMT_ENST00000254636.5_Silent_p.G284G|IMMT_ENST00000409051.2_Silent_p.G336G|IMMT_ENST00000442664.2_Silent_p.G382G|IMMT_ENST00000490238.1_5'UTR|Y_RNA_ENST00000363371.1_RNA	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	383					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCCTTTCCACCCAGGAAGGA	0.408													C|||	955	0.190695	0.0166	0.134	5008	,	,		19362	0.4831		0.1153	False		,,,				2504	0.2423				p.G383G		Atlas-SNP	.											.	IMMT	65	.	0			c.G1149A						PASS	.	C	,,	150,3620		1,148,1736	78	71	73		1146,1116,1149	-3.3	1	2	dbSNP_86	73	865,7359		46,773,3293	no	coding-synonymous,coding-synonymous,coding-synonymous	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	,,	47,921,5029	TT,TC,CC		10.518,3.9788,8.4626	,,	382/758,372/748,383/759	86385728	1015,10979	1885	4112	5997	SO:0001819	synonymous_variant	10989	exon10			TTTCCACCCAGGA	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1149G>A	2.37:g.86385728C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	113	63	0.557522	NM_006839	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	422	0.19322344322344323	5	0.01016260162601626	60	0.16574585635359115	268	0.46853146853146854	89	0.11741424802110818	C	9.632	1.136682	0.21123	0.039788	0.10518	ENSG00000132305	ENST00000419070	.	.	.	5.95	-3.3	0.05003	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.47971	-0.9075	3	.	.	.	-20.4341	3.2081	0.06672	0.1606:0.1607:0.4468:0.2319	rs2288123;rs59197674;rs2288123	.	.	.	M	238	.	.	V	-	1	0	IMMT	86239239	0.989000	0.36119	0.964000	0.40570	0.991000	0.79684	0.164000	0.16542	-0.411000	0.07530	-0.355000	0.07637	GTG	T|0.180;G|0.013	0.180	strong		0.408	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		T	86385728	C	T	86385728	2	4	23	1	0	0	0	0	0	0	0	1	7718	494	18	2		2	IMMT	2	86385728	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	297417	86385728	156813645	606	17062										
IMMT	10989	hgsc.bcm.edu	37	chr2	86400824	86400824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttggagttgtgaggcagGctgtttagattctttcatta	11	4	2	2	rs1050301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:86400824G>A	ENST00000410111.3	-	4	757	c.370C>T	c.(370-372)Cct>Tct	p.P124S	IMMT_ENST00000449247.2_Missense_Mutation_p.P124S|IMMT_ENST00000254636.5_Missense_Mutation_p.P37S|IMMT_ENST00000409051.2_Missense_Mutation_p.P124S|IMMT_ENST00000442664.2_Missense_Mutation_p.P124S|IMMT_ENST00000490238.1_5'Flank	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	124			P -> S (in dbSNP:rs6750289). {ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9168817}.		mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGAGGCAGGCTGTTTAGAT	0.328													G|||	1649	0.329273	0.0219	0.4236	5008	,	,		16353	0.5069		0.3628	False		,,,				2504	0.4601				p.P124S		Atlas-SNP	.											IMMT,NS,carcinoma,0,1	IMMT	65	1	0			c.C370T						PASS	.	G	SER/PRO,SER/PRO,SER/PRO	331,3325		11,309,1508	144	120	127		370,370,370	3.4	1	2	dbSNP_86	127	2750,5406		456,1838,1784	no	missense,missense,missense	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	74,74,74	467,2147,3292	AA,AG,GG		33.7175,9.0536,26.0836	possibly-damaging,possibly-damaging,possibly-damaging	124/758,124/748,124/759	86400824	3081,8731	1828	4078	5906	SO:0001583	missense	10989	exon4			AGGCAGGCTGTTT	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.370C>T	2.37:g.86400824G>A	ENSP00000387262:p.Pro124Ser	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	140	73	0.521429	NM_006839	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	725|725	0.33195970695970695|0.33195970695970695	6|6	0.012195121951219513|0.012195121951219513	151|151	0.4171270718232044|0.4171270718232044	286|286	0.5|0.5	282|282	0.3720316622691293|0.3720316622691293	G|G	18.35|18.35	3.604107|3.604107	0.66445|0.66445	0.090536|0.090536	0.337175|0.337175	ENSG00000132305|ENSG00000132305	ENST00000419070|ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	.|T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52	3.43|3.43	3.43|3.43	0.39272|0.39272	.|.	.|0.176656	.|0.51477	.|D	.|0.000090	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	P|P	0.9999999284871|0.9999999284871	.|P;P;P;B;B;P;B;P	.|0.52061	.|0.938;0.747;0.95;0.147;0.007;0.938;0.007;0.95	.|P;P;P;B;B;P;B;P	.|0.58266	.|0.747;0.679;0.836;0.153;0.065;0.747;0.065;0.836	T|T	0.48536|0.48536	-0.9027|-0.9027	4|9	.|0.14656	.|T	.|0.56	-9.876|-9.876	13.8948|13.8948	0.63764|0.63764	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs6750289;rs6750289|rs6750289;rs6750289	.|124;124;124;124;124;124;124;124	.|F5GZ32;B9A067;B4DKR1;Q05DN3;F8W9I1;Q16891-2;Q16891-3;Q16891	.|.;.;.;.;.;.;.;IMMT_HUMAN	V|S	21|37;124;124;124;124;124;124;124;124	.|ENSP00000254636:P37S;ENSP00000396899:P124S;ENSP00000387262:P124S;ENSP00000407788:P124S;ENSP00000387227:P124S	.|ENSP00000254636:P37S	A|P	-|-	2|1	0|0	IMMT|IMMT	86254335|86254335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.063000|6.063000	0.71162|0.71162	1.836000|1.836000	0.53414|0.53414	0.561000|0.561000	0.74099|0.74099	GCC|CCT	T|0.038;G|0.593;C|0.070;N|0.001;A|0.299	0.299	strong		0.328	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		A	86400824	G	A	86400824	3	1	23	1	0	0	0	0	1	0	0	0	7718	1203	42	2	1954	2	IMMT	2	86400824	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15096	86400824	156798549	607	17063										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88387557	88387557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggccgccgcagagccagcAgttcagcatgcagtacatct	11	14	2	1	rs1542087	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:88387557A>C	ENST00000419482.2	+	3	576	c.491A>C	c.(490-492)cAg>cCg	p.Q164P	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.Q164P|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	164	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		Q -> P (in dbSNP:rs1542087).		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGAGCCAGCAGTTCAGCATG	0.597													A|||	684	0.136581	0.2579	0.072	5008	,	,		19215	0.0268		0.0964	False		,,,				2504	0.1728				p.Q164P		Atlas-SNP	.											.	SMYD1	95	.	0			c.A491C						PASS	.	A	PRO/GLN	1066,3340	384.7+/-325.4	124,818,1261	119	79	93		491	3.9	1	2	dbSNP_88	93	902,7698	199.3+/-243.4	52,798,3450	yes	missense	SMYD1	NM_198274.3	76	176,1616,4711	CC,CA,AA		10.4884,24.1943,15.1315	benign	164/491	88387557	1968,11038	2203	4300	6503	SO:0001583	missense	150572	exon3			GCCAGCAGTTCAG	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.491A>C	2.37:g.88387557A>C	ENSP00000393453:p.Gln164Pro	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	298	130	0.436242	NM_198274	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	237	0.10851648351648352	127	0.258130081300813	29	0.08011049723756906	8	0.013986013986013986	73	0.09630606860158311	A	10.29	1.308174	0.23821	0.241943	0.104884	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.81415	-1.49;-1.49	5.04	3.86	0.44501	SET domain (2);	0.160261	0.56097	N	0.000024	T	0.00012	0.0000	N	0.11154	0.105	0.09310	P	1.0	B	0.06786	0.001	B	0.14578	0.011	T	0.02966	-1.1088	9	0.25106	T	0.35	-16.3953	11.4736	0.50284	0.8491:0.1509:0.0:0.0	rs1542087;rs60571651;rs1542087	164	Q8NB12	SMYD1_HUMAN	P	164	ENSP00000393453:Q164P;ENSP00000407888:Q164P	ENSP00000393453:Q164P	Q	+	2	0	SMYD1	88168672	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.826000	0.55738	0.834000	0.34852	-0.466000	0.05196	CAG	A|0.865;C|0.135	0.135	strong		0.597	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88387557	A	C	88387557	3	2	23	1	0	0	0	0	1	0	0	0	14821	188	7	5	501	5	SMYD1	2	88387557	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1986733	88387557	154811816	608	17064										
ADRA2B	151	hgsc.bcm.edu	37	chr2	96781257	96781257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcaccctgcccaggccccCccttggccctgggacctctg	9	21	2	0	rs9333568	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:96781257C>G	ENST00000409345.3	-	1	727	c.632G>C	c.(631-633)gGg>gCg	p.G211A		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	211			G -> A (in dbSNP:rs9333568). {ECO:0000269|Ref.6}.		activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCCAGGCCCCCCCTTGGCCCT	0.617													C|||	83	0.0165735	0.0015	0.0173	5008	,	,		18913	0.0		0.0527	False		,,,				2504	0.0164				p.G211A		Atlas-SNP	.											ADRA2B_ENST00000409345,brain,glioma,-1,2	ADRA2B	115	2	0			c.G632C						PASS	.	C	ALA/GLY	51,4029		0,51,1989	31	35	34		632	1.1	0	2	dbSNP_119	34	463,7887		14,435,3726	yes	missense	ADRA2B	NM_000682.5	60	14,486,5715	GG,GC,CC		5.5449,1.25,4.1352	benign	211/448	96781257	514,11916	2040	4175	6215	SO:0001583	missense	151	exon1			GGCCCCCCCTTGG	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.632G>C	2.37:g.96781257C>G	ENSP00000387281:p.Gly211Ala	Somatic	216	1	0.00462963		WXS	Illumina HiSeq	Phase_I	252	136	0.539683	NM_000682	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	46	0.021062271062271064	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	36	0.047493403693931395	C	1.675	-0.507932	0.04231	0.0125	0.055449	ENSG00000222040	ENST00000409345	T	0.71698	-0.59	4.97	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10723	0.0262	L	0.31752	0.955	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.07654	-1.0761	9	0.31617	T	0.26	.	4.2171	0.10540	0.0:0.5505:0.1693:0.2802	rs9333568	211	P18089	ADA2B_HUMAN	A	211	ENSP00000387281:G211A	ENSP00000387281:G211A	G	-	2	0	ADRA2B	96144984	0.000000	0.05858	0.002000	0.10522	0.335000	0.28730	-0.954000	0.03873	0.717000	0.32145	-1.453000	0.01033	GGG	C|0.952;G|0.048	0.048	strong		0.617	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			G	96781257	C	G	96781257	3	3	23	1	0	0	0	0	1	0	0	0	338	623	22	4	715	4	ADRA2B	2	96781257	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8393700	96781257	146418116	609	17065										
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97779488	97779488	+	Frame_Shift_Del	DEL	C	C	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgacgattatggaagacggCaagcgggagaggtggcccac					rs141447363	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:97779488delC	ENST00000461153.2	+	1	256	c.12delC	c.(10-12)ggcfs	p.G4fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G4fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	4										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGGAAGACGGCAAGCGGGAGA	0.562													?|C|-|unsure	121	0.0241613	0.0023	0.0389	5008	,	,		10528	0.0		0.0845	False		,,,				2504	0.0061				p.G4fs		Pindel	.											ANKRD36_ENST00000420699,right_lower_lobe,carcinoma,0,2	ANKRD36	170	2	0			c.11delG						PASS	.			57,3647		4,49,1799	69	65	66			-0.9	0	2	dbSNP_134	69	690,7198		41,608,3295	no	frameshift	ANKRD36	NM_001164315.1		45,657,5094	A1A1,A1R,RR		8.7475,1.5389,6.4441			97779488	747,10845	1923	4101	6024	SO:0001589	frameshift_variant	375248	exon1			.	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.12delC	2.37:g.97779488delC	ENSP00000419530:p.Gly4fs	Somatic	178	.	.		WXS	Illumina HiSeq	Phase_I	149	43	0.289	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																			C|0.967;-|0.033	0.033	strong		0.562	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			-	97779488	C	-	97779488	7	5	23	1	0	1	0	1	0	0	0	0	665	697	25	0	14	0	ANKRD36	2	97779488	Frame_Shift_Del	DEL	C	TCGA-GR-7353-01A-11D-2210-10	998231	97779488	145419885	610	17066										
COX5B	1329	hgsc.bcm.edu	37	chr2	98264478	98264478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgaagaggacaataccagCgtcgtctggttttggctgca	14	8	1	2	rs142899936		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:98264478C>T	ENST00000258424.2	+	4	344	c.297C>T	c.(295-297)agC>agT	p.S99S	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	99					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						ACAATACCAGCGTCGTCTGGT	0.522																																					p.S99S		Atlas-SNP	.											.	COX5B	9	.	0			c.C297T						PASS	.	C		1,4405		0,1,2202	65	61	62		297	-3.5	0.1	2	dbSNP_134	62	1,8599		0,1,4299	no	coding-synonymous	COX5B	NM_001862.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		99/130	98264478	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1329	exon4			TACCAGCGTCGTC	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.297C>T	2.37:g.98264478C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	151	58	0.384106	NM_001862	Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	CCDS2032.1																																																																																			C|1.000;T|0.000	0.000	weak		0.522	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		T	98264478	C	T	98264478	2	4	23	1	0	0	0	0	0	0	0	1	3773	767	27	1		1	COX5B	2	98264478	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	484990	98264478	144934895	611	17067										
ACTR1B	10120	hgsc.bcm.edu	37	chr2	98275354	98275354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactcacagactgagcacaGcctgcatggagatgaacagg	12	11	1	4	rs11692435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:98275354G>A	ENST00000289228.5	-	5	644	c.428C>T	c.(427-429)gCt>gTt	p.A143V		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	143			A -> V (in dbSNP:rs11692435).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						ACTGAGCACAGCCTGCATGGA	0.607													G|||	119	0.023762	0.0023	0.0375	5008	,	,		19640	0.0		0.0835	False		,,,				2504	0.0061				p.A143V		Atlas-SNP	.											ACTR1B,NS,adenoma,0,1	ACTR1B	34	1	0			c.C428T						PASS	.	G	VAL/ALA	70,4336		1,68,2134	103	109	107		428	4.8	1	2	dbSNP_120	107	716,7884		31,654,3615	yes	missense	ACTR1B	NM_005735.3	64	32,722,5749	AA,AG,GG		8.3256,1.5887,6.0434	probably-damaging	143/377	98275354	786,12220	2203	4300	6503	SO:0001583	missense	10120	exon5			AGCACAGCCTGCA	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.428C>T	2.37:g.98275354G>A	ENSP00000289228:p.Ala143Val	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	67	41	0.61194	NM_005735	D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	CCDS2033.1	89	0.04075091575091575	0	0.0	19	0.052486187845303865	0	0.0	70	0.09234828496042216	.	29.3	4.990255	0.93106	0.015887	0.083256	ENSG00000115073	ENST00000289228	D	0.97811	-4.55	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	H	0.98664	4.295	0.09310	P	0.99999999810745	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	9	0.87932	D	0	.	15.6865	0.77415	0.0:0.0:1.0:0.0	rs11692435;rs52812960;rs58086465;rs11692435	143	P42025	ACTY_HUMAN	V	143	ENSP00000289228:A143V	ENSP00000289228:A143V	A	-	2	0	ACTR1B	97641786	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.697000	0.98697	2.369000	0.80426	0.655000	0.94253	GCT	G|0.950;A|0.050	0.050	strong		0.607	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		A	98275354	G	A	98275354	3	1	23	1	0	0	0	0	1	0	0	0	210	971	34	2	730	2	ACTR1B	2	98275354	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10876	98275354	144924019	612	17068										
MGAT4A	11320	hgsc.bcm.edu	37	chr2	99271976	99271976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaatctaggttttgctttgTtctccatctgaaataaacat	6	7	3	1	rs61748145	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:99271976T>C	ENST00000264968.3	-	7	1069	c.706A>G	c.(706-708)Aca>Gca	p.T236A	MGAT4A_ENST00000461884.1_5'Flank|MGAT4A_ENST00000414521.2_Missense_Mutation_p.T108A|MGAT4A_ENST00000393487.1_Missense_Mutation_p.T236A|MGAT4A_ENST00000409391.1_Missense_Mutation_p.T236A			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	236					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TTTTGCTTTGTTCTCCATCTG	0.279													T|||	17	0.00339457	0.0008	0.0043	5008	,	,		20215	0.0		0.0099	False		,,,				2504	0.0031				p.T236A		Atlas-SNP	.											.	MGAT4A	51	.	0			c.A706G						PASS	.	T	ALA/THR,ALA/THR	12,4394	21.2+/-45.6	0,12,2191	94	88	90		322,706	5.1	1	2	dbSNP_129	90	92,8506	51.9+/-112.3	0,92,4207	yes	missense,missense	MGAT4A	NM_001160154.1,NM_012214.2	58,58	0,104,6398	CC,CT,TT		1.07,0.2724,0.7998	possibly-damaging,possibly-damaging	108/424,236/536	99271976	104,12900	2203	4299	6502	SO:0001583	missense	11320	exon8			GCTTTGTTCTCCA	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.706A>G	2.37:g.99271976T>C	ENSP00000264968:p.Thr236Ala	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_012214	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	8	0.003663003663003663	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	4	0.005277044854881266	T	24.9	4.578058	0.86645	0.002724	0.0107	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.12	5.12	0.69794	.	0.093140	0.85682	D	0.000000	T	0.63046	0.2478	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.992	T	0.73883	-0.3842	10	0.52906	T	0.07	-3.5017	14.3832	0.66926	0.0:0.0:0.0:1.0	rs61748145	108;236	E9PEN2;Q9UM21	.;MGT4A_HUMAN	A	236;108;236;236	ENSP00000377127:T236A;ENSP00000404889:T108A;ENSP00000264968:T236A;ENSP00000386841:T236A	ENSP00000264968:T236A	T	-	1	0	MGAT4A	98638408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.938000	0.87678	2.044000	0.60594	0.533000	0.62120	ACA	T|0.993;C|0.007	0.007	strong		0.279	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		C	99271976	T	C	99271976	3	2	23	1	0	0	0	0	1	0	0	0	9545	1725	60	2	1016	2	MGAT4A	2	99271976	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	996622	99271976	143927397	613	17069										
EIF5B	9669	hgsc.bcm.edu	37	chr2	99978048	99978048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttcaaaattaagacagtGgcccaaaagaaggcagaaaa	8	8	1	3	rs12233086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:99978048G>A	ENST00000289371.6	+	4	886	c.684G>A	c.(682-684)gtG>gtA	p.V228V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	228					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAGACAGTGGCCCAAAAGA	0.398													G|||	848	0.169329	0.1051	0.2839	5008	,	,		17320	0.25		0.1481	False		,,,				2504	0.1135				p.V228V	Colon(162;2388 2567 2705 3444)	Atlas-SNP	.											.	EIF5B	95	.	0			c.G684A						PASS	.	G		460,3224		38,384,1420	53	53	53		684	4	1	2	dbSNP_120	53	1104,7056		81,942,3057	no	coding-synonymous	EIF5B	NM_015904.3		119,1326,4477	AA,AG,GG		13.5294,12.4864,13.205		228/1221	99978048	1564,10280	1842	4080	5922	SO:0001819	synonymous_variant	9669	exon4			GACAGTGGCCCAA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.684G>A	2.37:g.99978048G>A		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	265	133	0.501887	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	CCDS42721.1																																																																																			G|0.842;A|0.158	0.158	strong		0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		A	99978048	G	A	99978048	2	1	23	1	0	0	0	0	0	0	0	1	5044	1335	47	2		2	EIF5B	2	99978048	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	706072	99978048	143221325	614	17070										
EIF5B	9669	hgsc.bcm.edu	37	chr2	99992822	99992822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcgtagtagaaggaaacaAagttcatatagaagtaaaag	9	3	1	2	rs7558074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:99992822A>C	ENST00000289371.6	+	10	1767	c.1565A>C	c.(1564-1566)aAa>aCa	p.K522T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	522			K -> T (in dbSNP:rs7558074). {ECO:0000269|PubMed:10200264, ECO:0000269|PubMed:10432305, ECO:0000269|PubMed:21269460}.		cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAGGAAACAAAGTTCATATA	0.343													C|||	2964	0.591853	0.7678	0.7032	5008	,	,		16798	0.3671		0.5686	False		,,,				2504	0.5307				p.K522T	Colon(162;2388 2567 2705 3444)	Atlas-SNP	.											.	EIF5B	95	.	0			c.A1565C						PASS	.	C	THR/LYS	2951,933		1154,643,145	8	8	8		1565	5.3	0.5	2	dbSNP_116	8	4651,3555		1372,1907,824	yes	missense	EIF5B	NM_015904.3	78	2526,2550,969	CC,CA,AA		43.322,24.0216,37.1216	benign	522/1221	99992822	7602,4488	1942	4103	6045	SO:0001583	missense	9669	exon10			GAAACAAAGTTCA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1565A>C	2.37:g.99992822A>C	ENSP00000289371:p.Lys522Thr	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	26	11	0.423077	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	1287	0.5892857142857143	378	0.7682926829268293	254	0.7016574585635359	212	0.3706293706293706	443	0.5844327176781002	C	4.458	0.084868	0.08583	0.759784	0.56678	ENSG00000158417	ENST00000289371	T	0.48522	0.81	6.17	5.29	0.74685	.	.	.	.	.	T	0.00012	0.0000	L	0.38175	1.15	0.45452	P	0.0015760000000000218	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	7	.	.	.	-4.241	10.7971	0.46466	0.1323:0.7994:0.0:0.0683	rs7558074;rs17856952;rs52796323;rs61100948;rs7558074	522	O60841	IF2P_HUMAN	T	522	ENSP00000289371:K522T	.	K	+	2	0	EIF5B	99359254	0.992000	0.36948	0.545000	0.28153	0.444000	0.32077	2.998000	0.49465	0.933000	0.37291	-0.121000	0.15023	AAA	A|0.436;C|0.564;G|0.000;T|0.000	0.564	strong		0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	99992822	A	C	99992822	3	2	23	1	0	0	0	0	1	0	0	0	5044	14	1	5	1603	5	EIF5B	2	99992822	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14774	99992822	143206551	615	17071										
EIF5B	9669	hgsc.bcm.edu	37	chr2	99995804	99995804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtcacacacatgtacaagaTggtgaagcaggtggtatcac	11	9	2	2	rs1376443	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:99995804T>C	ENST00000289371.6	+	12	2176	c.1974T>C	c.(1972-1974)gaT>gaC	p.D658D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	658	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTACAAGATGGTGAAGCAG	0.363													C|||	3024	0.603834	0.7602	0.7104	5008	,	,		17893	0.3681		0.5865	False		,,,				2504	0.5777				p.D658D	Colon(162;2388 2567 2705 3444)	Atlas-SNP	.											.	EIF5B	95	.	0			c.T1974C						PASS	.	C		2839,941		1071,697,122	90	83	85		1974	2	1	2	dbSNP_88	85	4694,3514		1343,2008,753	no	coding-synonymous	EIF5B	NM_015904.3		2414,2705,875	CC,CT,TT		42.8119,24.8942,37.1622		658/1221	99995804	7533,4455	1890	4104	5994	SO:0001819	synonymous_variant	9669	exon12			ACAAGATGGTGAA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1974T>C	2.37:g.99995804T>C		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	231	115	0.497835	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	CCDS42721.1																																																																																			T|0.415;C|0.585	0.585	strong		0.363	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	99995804	T	C	99995804	2	2	23	1	0	0	0	0	0	0	0	1	5044	1461	51	2		2	EIF5B	2	99995804	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2982	99995804	143203569	616	17072										
REV1	51455	hgsc.bcm.edu	37	chr2	100055506	100055506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttatcctcctcctgggaaAaggctggagaaagcctgctg	11	12	0	1	rs3087386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:100055506A>G	ENST00000258428.3	-	6	998	c.770T>C	c.(769-771)tTt>tCt	p.F257S	REV1_ENST00000393445.3_Missense_Mutation_p.F257S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	257			F -> S (in dbSNP:rs3087386).		DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCCTGGGAAAAGGCTGGAGA	0.498								Direct reversal of damage					.|||	2906	0.580272	0.7315	0.7003	5008	,	,		19504	0.3611		0.5666	False		,,,				2504	0.5307				p.F257S		Atlas-SNP	.											.	REV1	100	.	0			c.T770C						PASS	.	G	SER/PHE,SER/PHE	3115,1291	436.8+/-344.8	1099,917,187	57	55	56		770,770	0	0	2	dbSNP_102	56	4708,3892	544.8+/-384.7	1283,2142,875	yes	missense,missense	REV1	NM_001037872.1,NM_016316.2	155,155	2382,3059,1062	GG,GA,AA		45.2558,29.301,39.8508	benign,benign	257/1251,257/1252	100055506	7823,5183	2203	4300	6503	SO:0001583	missense	51455	exon6			TGGGAAAAGGCTG	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.770T>C	2.37:g.100055506A>G	ENSP00000258428:p.Phe257Ser	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	109	56	0.513761	NM_001037872	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	1254	0.5741758241758241	355	0.7215447154471545	253	0.6988950276243094	204	0.35664335664335667	442	0.58311345646438	G	0.727	-0.781505	0.02929	0.70699	0.547442	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.25414	1.8;1.8	5.54	-0.0271	0.13927	.	1.017110	0.07806	N	0.957370	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35450	-0.9788	9	0.08179	T	0.78	.	6.4404	0.21847	0.4589:0.1197:0.4214:0.0	rs3087386;rs3749086;rs58019413;rs3087386	236;257;257	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	S	257	ENSP00000377091:F257S;ENSP00000258428:F257S	ENSP00000258428:F257S	F	-	2	0	REV1	99421938	0.164000	0.22935	0.000000	0.03702	0.074000	0.17049	0.717000	0.25851	-0.622000	0.05626	-1.653000	0.00756	TTT	A|0.422;G|0.578	0.578	strong		0.498	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		G	100055506	A	G	100055506	3	3	23	1	0	0	0	0	1	0	0	0	13239	14	1	2	3057	2	REV1	2	100055506	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	59702	100055506	143143867	617	17073										
AFF3	3899	hgsc.bcm.edu	37	chr2	100218080	100218080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagttgggctgctggaccacGgcgctgccagcccgcgaggc	16	15	0	0	rs4851214	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:100218080G>A	ENST00000409236.2	-	12	1300	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	AFF3_ENST00000409579.1_Silent_p.A421A|AFF3_ENST00000317233.4_Silent_p.A396A|AFF3_ENST00000356421.2_Silent_p.A421A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	396					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTGGACCACGGCGCTGCCAG	0.632													G|||	1201	0.239816	0.0129	0.2291	5008	,	,		16538	0.4038		0.2932	False		,,,				2504	0.3303				p.A421A		Atlas-SNP	.											.	AFF3	164	.	0			c.C1263T						PASS	.	G	,	247,4131		8,231,1950	11	13	13		1263,1188	-0.9	0.3	2	dbSNP_111	13	2318,6252		328,1662,2295	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	336,1893,4245	AA,AG,GG		27.0478,5.6418,19.81	,	421/1252,396/1227	100218080	2565,10383	2189	4285	6474	SO:0001819	synonymous_variant	3899	exon13			GACCACGGCGCTG	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1188C>T	2.37:g.100218080G>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	19	19	1	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																			G|0.776;A|0.224	0.224	strong		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100218080	G	A	100218080	2	1	23	1	0	0	0	0	0	0	0	1	358	1103	39	1		1	AFF3	2	100218080	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	162574	100218080	142981293	618	17074										
C2orf29	55571	hgsc.bcm.edu	37	chr2	101879023	101879023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccaatctgaattgccaacGcaaagcaaagcgagcttccc	8	14	1	1	rs1007752	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:101879023G>A	ENST00000289382.3	+	3	865	c.702G>A	c.(700-702)acG>acA	p.T234T		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	234					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											AATTGCCAACGCAAAGCAAAG	0.443													G|||	72	0.014377	0.0015	0.0317	5008	,	,		16489	0.0		0.0408	False		,,,				2504	0.0072				p.T234T		Atlas-SNP	.											.	.	.	.	0			c.G702A						PASS	.	G		31,4375	39.2+/-71.8	0,31,2172	89	88	88		702	-11.6	0.4	2	dbSNP_86	88	403,8197	127.8+/-186.1	11,381,3908	no	coding-synonymous	C2orf29	NM_017546.4		11,412,6080	AA,AG,GG		4.686,0.7036,3.3369		234/511	101879023	434,12572	2203	4300	6503	SO:0001819	synonymous_variant	55571	exon3			GCCAACGCAAAGC	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.702G>A	2.37:g.101879023G>A		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	238	128	0.537815	NM_017546	Q6P2M9|Q8N681	Silent	SNP	ENST00000289382.3	37	CCDS2050.1																																																																																			G|0.972;A|0.028	0.028	strong		0.443	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		A	101879023	G	A	101879023	2	1	23	1	0	0	0	0	0	0	0	1	2161	1074	38	1		1	C2orf29	2	101879023	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1660943	101879023	141320350	619	17075										
IL18R1	8809	hgsc.bcm.edu	37	chr2	103013177	103013177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactgacttcacattcttgcCccaatcactaaagcttttga	4	12	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:103013177C>T	ENST00000409599.1	+	12	1813	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	IL18R1_ENST00000233957.1_Missense_Mutation_p.P486L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	486	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.P486H(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACATTCTTGCCCCAATCACTA	0.353																																					p.P486L		Atlas-SNP	.											IL18R1,NS,carcinoma,0,1	IL18R1	72	1	1	Substitution - Missense(1)	lung(1)	c.C1457T						scavenged	.						91	96	94					2																	103013177		2203	4300	6503	SO:0001583	missense	8809	exon10			TCTTGCCCCAATC	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1457C>T	2.37:g.103013177C>T	ENSP00000387211:p.Pro486Leu	Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	294	4	0.0136054	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291262	0.80914	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.02446	4.29;4.29;4.29	5.59	5.59	0.84812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.17662	0.0424	M	0.90650	3.135	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.56514	0.8;0.8	T	0.00609	-1.1646	10	0.56958	D	0.05	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	485;486	B7ZKV7;Q13478	.;IL18R_HUMAN	L	486	ENSP00000386663:P486L;ENSP00000387211:P486L;ENSP00000233957:P486L	ENSP00000233957:P486L	P	+	2	0	IL18R1	102379609	0.999000	0.42202	0.852000	0.33557	0.913000	0.54294	5.317000	0.65822	2.797000	0.96272	0.563000	0.77884	CCC	.	.	none		0.353	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		T	103013177	C	T	103013177	3	4	23	1	0	0	0	0	1	0	0	0	7647	623	22	2	1495	2	IL18R1	2	103013177	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1134154	103013177	140186196	620	17076										
TGFBRAP1	9392	hgsc.bcm.edu	37	chr2	105897003	105897003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctctgtgctgcggacctcGttcaggtagctcatgaggaa	12	11	3	1	rs2241799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:105897003G>A	ENST00000393359.2	-	6	1725	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TGFBRAP1_ENST00000258449.1_Silent_p.N433N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	433					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCGGACCTCGTTCAGGTAGC	0.572													G|||	778	0.155351	0.0098	0.2176	5008	,	,		21326	0.1508		0.2117	False		,,,				2504	0.2546				p.N433N	Esophageal Squamous(183;794 2019 9730 21801 48859)	Atlas-SNP	.											.	TGFBRAP1	70	.	0			c.C1299T						PASS	.	G	,	186,4220	118.4+/-156.1	2,182,2019	156	130	139		1299,1299	-5.1	0.8	2	dbSNP_98	139	1767,6833	320.5+/-314.7	197,1373,2730	no	coding-synonymous,coding-synonymous	TGFBRAP1	NM_001142621.1,NM_004257.4	,	199,1555,4749	AA,AG,GG		20.5465,4.2215,15.0161	,	433/861,433/861	105897003	1953,11053	2203	4300	6503	SO:0001819	synonymous_variant	9392	exon6			GACCTCGTTCAGG	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1299C>T	2.37:g.105897003G>A		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	223	90	0.403587	NM_004257	A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																			G|0.853;A|0.147	0.147	strong		0.572	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		A	105897003	G	A	105897003	2	1	23	1	0	0	0	0	0	0	0	1	15821	1136	40	1		1	TGFBRAP1	2	105897003	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2883826	105897003	137302370	621	17077										
RGPD3	653489	hgsc.bcm.edu	37	chr2	107049714	107049714	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgactgacttaagcatctCttttacagactccaggggca	8	11	1	3	rs62152468		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:107049714C>G	ENST00000409886.3	-	16	2320	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E745Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	745					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAAGCATCTCTTTTACAGAC	0.343																																					p.E745Q		Atlas-SNP	.											RGPD3_ENST00000304514,right_upper_lobe,carcinoma,0,2	RGPD3	316	2	0			c.G2233C						scavenged	.						15	28	24					2																	107049714		673	1545	2218	SO:0001583	missense	653489	exon16			GCATCTCTTTTAC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2233G>C	2.37:g.107049714C>G	ENSP00000386588:p.Glu745Gln	Somatic	751	3	0.00399467		WXS	Illumina HiSeq	Phase_I	845	364	0.430769	NM_001144013	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.999	0.185488	0.09495	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.24908	1.83;1.83	2.34	2.34	0.29019	.	.	.	.	.	T	0.21841	0.0526	M	0.62723	1.935	0.26104	N	0.980775	P	0.35700	0.516	B	0.20955	0.032	T	0.10405	-1.0631	9	0.42905	T	0.14	-11.6791	10.3857	0.44138	0.0:1.0:0.0:0.0	.	745	A6NKT7	RGPD3_HUMAN	Q	745;503;745	ENSP00000386588:E745Q;ENSP00000303659:E745Q	ENSP00000303659:E745Q	E	-	1	0	RGPD3	106416146	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.692000	0.68256	1.308000	0.44962	0.173000	0.16961	GAG	C|0.250;G|0.750	0.750	weak		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		G	107049714	C	G	107049714	3	3	23	1	0	0	0	0	1	0	0	0	13287	922	32	4	3075	4	RGPD3	2	107049714	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1152711	107049714	136149659	622	17078										
SULT1C4	27233	hgsc.bcm.edu	37	chr2	108994808	108994808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acactaatggccttacacgaCatggaggattttacatttga	8	8	0	1	rs1402467	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:108994808C>G	ENST00000272452.2	+	1	341	c.15C>G	c.(13-15)gaC>gaG	p.D5E	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5E	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	5			D -> E (in dbSNP:rs1402467). {ECO:0000269|PubMed:9852044, ECO:0000269|Ref.4}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCTTACACGACATGGAGGATT	0.443													G|||	2092	0.417732	0.8752	0.1801	5008	,	,		22504	0.1081		0.2634	False		,,,				2504	0.4458				p.D5E		Atlas-SNP	.											.	SULT1C4	41	.	0			c.C15G						PASS	.	G	GLU/ASP	3378,1028	377.1+/-322.3	1306,766,131	162	169	167		15	-1.8	0	2	dbSNP_88	167	2118,6482	716.6+/-406.1	254,1610,2436	yes	missense	SULT1C4	NM_006588.2	45	1560,2376,2567	GG,GC,CC		24.6279,23.3318,42.2574	benign	5/303	108994808	5496,7510	2203	4300	6503	SO:0001583	missense	27233	exon1			ACACGACATGGAG	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.15C>G	2.37:g.108994808C>G	ENSP00000272452:p.Asp5Glu	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	143	142	0.993007	NM_006588	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	CCDS2077.1	776	0.3553113553113553	444	0.9024390243902439	70	0.19337016574585636	62	0.10839160839160839	200	0.2638522427440633	G	1.450	-0.565305	0.03939	0.766682	0.246279	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01745	5.01;4.66	4.88	-1.75	0.08031	.	7739.210000	0.00166	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26950	-1.0088	9	0.02654	T	1	.	6.7063	0.23252	0.4812:0.3766:0.1422:0.0	rs1402467;rs52816974;rs61392346;rs1402467	5;5;5	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	E	5	ENSP00000272452:D5E;ENSP00000387225:D5E	ENSP00000272452:D5E	D	+	3	2	SULT1C4	108361240	0.281000	0.24258	0.007000	0.13788	0.136000	0.21042	-0.691000	0.05133	-0.973000	0.03555	-0.167000	0.13348	GAC	C|0.602;G|0.398	0.398	strong		0.443	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		G	108994808	C	G	108994808	3	3	23	1	0	0	0	0	1	0	0	0	15376	477	17	4	17	4	SULT1C4	2	108994808	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1945094	108994808	134204565	623	17079										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109374952	109374952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaattatggaccagactcAgtgcctgatggatatcaggg	13	7	2	3	rs826549	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:109374952A>G	ENST00000283195.6	+	18	2676	c.2550A>G	c.(2548-2550)tcA>tcG	p.S850S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	850					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S850S(1)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GACCAGACTCAGTGCCTGATG	0.423																																					p.S850S		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,1	RANBP2	488	1	1	Substitution - coding silent(1)	stomach(1)	c.A2550G						scavenged	.	G		2554,1850		991,572,639	117	171	153		2550	-2.5	0.6	2	dbSNP_86	153	1455,7145		235,985,3080	no	coding-synonymous	RANBP2	NM_006267.4		1226,1557,3719	GG,GA,AA		16.9186,42.0073,30.829		850/3225	109374952	4009,8995	2202	4300	6502	SO:0001819	synonymous_variant	5903	exon18			AGACTCAGTGCCT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2550A>G	2.37:g.109374952A>G		Somatic	338	2	0.00591716		WXS	Illumina HiSeq	Phase_I	227	94	0.414097	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																			A|0.745;G|0.255	0.255	strong		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109374952	A	G	109374952	2	3	23	1	0	0	0	0	0	0	0	1	13028	175	7	3		3	RANBP2	2	109374952	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	380144	109374952	133824421	624	17080										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109381438	109381438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttttctacaaaggaaggAcagtgggattgcagtgcatg	13	5	1	0	rs61748149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:109381438A>G	ENST00000283195.6	+	20	4569	c.4443A>G	c.(4441-4443)ggA>ggG	p.G1481G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1481					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAAGGAAGGACAGTGGGATT	0.398													A|||	345	0.0688898	0.0477	0.062	5008	,	,		21024	0.0317		0.0527	False		,,,				2504	0.1575				p.G1481G		Atlas-SNP	.											.	RANBP2	488	.	0			c.A4443G						PASS	.	A		204,4202	126.6+/-163.6	4,196,2003	67	65	66		4443	-2.2	1	2	dbSNP_129	66	513,8085	144.8+/-200.6	18,477,3804	no	coding-synonymous	RANBP2	NM_006267.4		22,673,5807	GG,GA,AA		5.9665,4.63,5.5137		1481/3225	109381438	717,12287	2203	4299	6502	SO:0001819	synonymous_variant	5903	exon20			GGAAGGACAGTGG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4443A>G	2.37:g.109381438A>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	180	88	0.488889	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																			A|0.942;G|0.058	0.058	strong		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109381438	A	G	109381438	2	3	23	1	0	0	0	0	0	0	0	1	13028	262	10	2		2	RANBP2	2	109381438	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6486	109381438	133817935	625	17081										
CCDC138	165055	hgsc.bcm.edu	37	chr2	109408159	109408159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaactggattctttccatGatttgaagaaacaggaaaca	8	6	1	4	rs35794776	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:109408159G>T	ENST00000295124.4	+	4	355	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	CCDC138_ENST00000412964.2_Missense_Mutation_p.D99Y|CCDC138_ENST00000470608.1_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	99			D -> Y (in dbSNP:rs35794776).							endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTCTTTCCATGATTTGAAGAA	0.289													G|||	361	0.0720847	0.0582	0.0663	5008	,	,		15869	0.0317		0.0527	False		,,,				2504	0.1564				p.D99Y		Atlas-SNP	.											.	CCDC138	49	.	0			c.G295T						PASS	.	G	TYR/ASP	232,4164	130.2+/-166.9	7,218,1973	85	102	96		295	1.9	1	2	dbSNP_126	96	503,8053	140.5+/-197.0	17,469,3792	yes	missense	CCDC138	NM_144978.1	160	24,687,5765	TT,TG,GG		5.8789,5.2775,5.6748	benign	99/666	109408159	735,12217	2198	4278	6476	SO:0001583	missense	165055	exon4			TTCCATGATTTGA	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.295G>T	2.37:g.109408159G>T	ENSP00000295124:p.Asp99Tyr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	64	37	0.578125	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	119	0.05448717948717949	31	0.06300813008130081	23	0.06353591160220995	26	0.045454545454545456	39	0.051451187335092345	G	9.969	1.225072	0.22457	0.052775	0.058789	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.90900	-2.75;-2.75	5.77	1.94	0.25998	.	0.572646	0.16856	N	0.196758	T	0.48021	0.1477	L	0.57536	1.79	0.31858	N	0.621322	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.004	T	0.70270	-0.4918	10	0.56958	D	0.05	0.065	3.7033	0.08391	0.1459:0.1312:0.5869:0.136	rs35794776	99;99	Q96M89-2;Q96M89	.;CC138_HUMAN	Y	99	ENSP00000411800:D99Y;ENSP00000295124:D99Y	ENSP00000295124:D99Y	D	+	1	0	CCDC138	108774591	1.000000	0.71417	0.968000	0.41197	0.490000	0.33462	1.379000	0.34340	0.076000	0.16826	-0.152000	0.13540	GAT	G|0.942;T|0.058	0.058	strong		0.289	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		T	109408159	G	T	109408159	3	4	23	1	0	0	0	0	1	0	0	0	2772	1290	45	4	309	4	CCDC138	2	109408159	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26721	109408159	133791214	626	17082										
CCDC138	165055	hgsc.bcm.edu	37	chr2	109408208	109408208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttaattgaaaatgattataGagttagtacctcgaaaataa	7	3	0	3	rs6740879	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:109408208G>A	ENST00000295124.4	+	4	404	c.344G>A	c.(343-345)aGa>aAa	p.R115K	CCDC138_ENST00000412964.2_Missense_Mutation_p.R115K|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	115			R -> K (in dbSNP:rs6740879).					p.R115K(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AATGATTATAGAGTTAGTACC	0.274													G|||	1302	0.259984	0.3623	0.1888	5008	,	,		15706	0.0913		0.2346	False		,,,				2504	0.3722				p.R115K		Atlas-SNP	.											CCDC138,NS,carcinoma,0,1	CCDC138	49	1	1	Substitution - Missense(1)	stomach(1)	c.G344A						PASS	.	G	LYS/ARG	1502,2894	447.9+/-348.5	259,984,955	71	83	79		344	3	0.1	2	dbSNP_116	79	1977,6613	338.9+/-322.9	232,1513,2550	yes	missense	CCDC138	NM_144978.1	26	491,2497,3505	AA,AG,GG		23.0151,34.1674,26.7904	possibly-damaging	115/666	109408208	3479,9507	2198	4295	6493	SO:0001583	missense	165055	exon4			ATTATAGAGTTAG	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.344G>A	2.37:g.109408208G>A	ENSP00000295124:p.Arg115Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	19	0.513514	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	486|486	0.22252747252747251|0.22252747252747251	182|182	0.3699186991869919|0.3699186991869919	74|74	0.20441988950276244|0.20441988950276244	53|53	0.09265734265734266|0.09265734265734266	177|177	0.23350923482849603|0.23350923482849603	G|G	11.12|11.12	1.545024|1.545024	0.27652|0.27652	0.341674|0.341674	0.230151|0.230151	ENSG00000163006|ENSG00000163006	ENST00000456512|ENST00000412964;ENST00000295124	.|D;D	.|0.90133	.|-2.62;-2.62	5.77|5.77	2.99|2.99	0.34606|0.34606	.|.	.|0.522350	.|0.19228	.|N	.|0.119493	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.10296	.|0.003;0.003	.|B;B	.|0.09377	.|0.004;0.004	T|T	0.15521|0.15521	-1.0434|-1.0434	4|9	.|0.05721	.|T	.|0.95	-0.7705|-0.7705	9.3348|9.3348	0.38043|0.38043	0.2322:0.0:0.7678:0.0|0.2322:0.0:0.7678:0.0	rs6740879;rs60240712;rs6740879|rs6740879;rs60240712;rs6740879	.|115;115	.|Q96M89-2;Q96M89	.|.;CC138_HUMAN	K|K	13|115	.|ENSP00000411800:R115K;ENSP00000295124:R115K	.|ENSP00000295124:R115K	E|R	+|+	1|2	0|0	CCDC138|CCDC138	108774640|108774640	0.000000|0.000000	0.05858|0.05858	0.114000|0.114000	0.21550|0.21550	0.749000|0.749000	0.42624|0.42624	0.164000|0.164000	0.16542|0.16542	0.791000|0.791000	0.33826|0.33826	0.655000|0.655000	0.94253|0.94253	GAG|AGA	G|0.747;A|0.253	0.253	strong		0.274	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		A	109408208	G	A	109408208	3	1	23	1	0	0	0	0	1	0	0	0	2772	942	33	2	358	2	CCDC138	2	109408208	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	49	109408208	133791165	627	17083										
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110373197	110373197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggactacagtgggaaaaaGgcctcccagtacctgagtcg	13	10	0	1	rs1560884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:110373197G>A	ENST00000356454.3	+	1	1287	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	377																	GTGGGAAAAAGGCCTCCCAGT	0.657													G|||	1623	0.324081	0.2526	0.4697	5008	,	,		16294	0.3929		0.2575	False		,,,				2504	0.3149				p.K377K		Atlas-SNP	.											.	.	.	.	0			c.G1131A						PASS	.	G		1206,3200	388.6+/-327.0	156,894,1153	48	55	53		1131	1.6	0.1	2	dbSNP_88	53	2121,6479	341.3+/-324.0	258,1605,2437	no	coding-synonymous	ANKRD57	NM_023016.3		414,2499,3590	AA,AG,GG		24.6628,27.3718,25.5805		377/526	110373197	3327,9679	2203	4300	6503	SO:0001819	synonymous_variant	65124	exon1			GAAAAAGGCCTCC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1131G>A	2.37:g.110373197G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	55	33	0.6	NM_023016	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			G|0.728;A|0.272	0.272	strong		0.657	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		A	110373197	G	A	110373197	2	1	23	1	0	0	0	0	0	0	0	1	683	991	35	2		2	ANKRD57	2	110373197	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	964989	110373197	132826176	628	17084										
POLR1B	84172	hgsc.bcm.edu	37	chr2	113308516	113308516	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactacttggaaaatggcacTgttatgttgaactttattta	7	6	0	1	rs2304555	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:113308516T>A	ENST00000263331.5	+	5	1279	c.699T>A	c.(697-699)acT>acA	p.T233T	POLR1B_ENST00000537335.1_Silent_p.T22T|POLR1B_ENST00000417433.2_Silent_p.T177T|POLR1B_ENST00000541869.1_Silent_p.T271T|POLR1B_ENST00000409894.3_Silent_p.T233T	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	233					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AAAATGGCACTGTTATGTTGA	0.353													T|||	2775	0.554113	0.5015	0.5562	5008	,	,		21138	0.4038		0.6938	False		,,,				2504	0.635				p.T233T	Ovarian(16;256 576 9537 23969 41147)	Atlas-SNP	.											POLR1B,NS,carcinoma,+1,1	POLR1B	95	1	0			c.T699A						PASS	.	T	,	2453,1953	620.2+/-393.5	701,1051,451	228	214	219		531,699	-10	0.3	2	dbSNP_100	219	6370,2230	709.9+/-405.7	2353,1664,283	no	coding-synonymous,coding-synonymous	POLR1B	NM_001137604.1,NM_019014.4	,	3054,2715,734	AA,AT,TT		25.9302,44.3259,32.1621	,	177/1080,233/1136	113308516	8823,4183	2203	4300	6503	SO:0001819	synonymous_variant	84172	exon5			TGGCACTGTTATG	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.699T>A	2.37:g.113308516T>A		Somatic	366	0	0		WXS	Illumina HiSeq	Phase_I	278	273	0.982014	NM_019014	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	CCDS2097.1																																																																																			T|0.369;A|0.631	0.631	strong		0.353	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		A	113308516	T	A	113308516	2	1	23	1	0	0	0	0	0	0	0	1	12210	1567	55	5		5	POLR1B	2	113308516	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2935319	113308516	129890857	629	17085										
PAX8	7849	hgsc.bcm.edu	37	chr2	113976146	113976146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgtggcagtggtgggcggTgcactcggccttgatgtgga	19	9	0	1	rs368201100	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:113976146T>C	ENST00000429538.3	-	12	1511	c.1317A>G	c.(1315-1317)gcA>gcG	p.A439A	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000348715.5_3'UTR|PAX8_ENST00000397647.3_3'UTR|PAX8_ENST00000263335.7_3'UTR	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	439					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGGTGGGCGGTGCACTCGGCC	0.517			T	PPARG	follicular thyroid		Thyroid dysgenesis						T|||	8	0.00159744	0.0	0.0014	5008	,	,		17403	0.0		0.006	False		,,,				2504	0.001				p.A439A	Ovarian(188;7 2067 9084 29802 29892)	Atlas-SNP	.		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	PAX8	42	.	0			c.A1317G						PASS	.	T	,,,	6,3874		0,6,1934	34	40	38		1317,,,	-6.1	0	2		38	37,8203		0,37,4083	no	coding-synonymous,utr-3,utr-3,utr-3	PAX8	NM_003466.3,NM_013952.3,NM_013953.3,NM_013992.3	,,,	0,43,6017	CC,CT,TT		0.449,0.1546,0.3548	,,,	439/451,,,	113976146	43,12077	1940	4120	6060	SO:0001819	synonymous_variant	7849	exon12			GGGCGGTGCACTC	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1317A>G	2.37:g.113976146T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	70	32	0.457143	NM_003466	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122781	0.01785	0.001546	0.00449	ENSG00000125618	ENST00000468980	.	.	.	5.34	-6.12	0.02124	.	.	.	.	.	T	0.51907	0.1702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56056	-0.8042	4	.	.	.	.	10.6988	0.45915	0.1148:0.5796:0.0:0.3056	.	.	.	.	A	162	.	.	T	-	1	0	PAX8	113692617	0.000000	0.05858	0.014000	0.15608	0.065000	0.16274	-4.294000	0.00258	-0.902000	0.03886	-1.054000	0.02325	ACC	.	.	weak		0.517	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			C	113976146	T	C	113976146	2	2	23	1	0	0	0	0	0	0	0	1	11485	1683	59	2		2	PAX8	2	113976146	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	667630	113976146	129223227	630	17086										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114256840	114256840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctgctccgccatgaacCtgccaagagctgagcgccct	10	17	0	3	rs147906017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:114256840C>T	ENST00000306507.5	+	1	180	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	3					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGCCATGAACCTGCCAAGAGC	0.632																																					p.L3L		Atlas-SNP	.											FOXD4L1,colon,carcinoma,-2,1	FOXD4L1	48	1	0			c.C7T						scavenged	.						28	38	34					2																	114256840		2154	4219	6373	SO:0001819	synonymous_variant	200350	exon1			ATGAACCTGCCAA	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.7C>T	2.37:g.114256840C>T		Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	246	4	0.0162602	NM_012184	B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	CCDS2117.1																																																																																			.	.	weak		0.632	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		T	114256840	C	T	114256840	2	4	23	1	0	0	0	0	0	0	0	1	6000	680	24	2		2	FOXD4L1	2	114256840	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	280694	114256840	128942533	631	17087										
DPP10	57628	hgsc.bcm.edu	37	chr2	116510817	116510817	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtaagatggttaaaccgaGctcagaacatctccatcctc	8	11	2	2	rs2053724	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:116510817G>C	ENST00000410059.1	+	11	1498	c.1018G>C	c.(1018-1020)Gct>Cct	p.A340P	DPP10_ENST00000393147.2_Missense_Mutation_p.A344P|DPP10_ENST00000409163.1_Missense_Mutation_p.A290P|DPP10_ENST00000310323.8_Missense_Mutation_p.A333P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	340			A -> P (in dbSNP:rs2053724). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:12675227}.			integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTTAAACCGAGCTCAGAACAT	0.343													C|||	2651	0.529353	0.1589	0.732	5008	,	,		14616	0.7321		0.6252	False		,,,				2504	0.5787				p.A344P		Atlas-SNP	.											DPP10_ENST00000410059,NS,carcinoma,0,2	DPP10	415	2	0			c.G1030C						scavenged	.	C	PRO/ALA,PRO/ALA,PRO/ALA,PRO/ALA,PRO/ALA	1001,3405	729.7+/-410.1	114,773,1316	124	110	115		997,1030,868,1006,1018	3.2	1	2	dbSNP_94	115	5216,3384	499.2+/-374.9	1581,2054,665	yes	missense,missense,missense,missense,missense	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	27,27,27,27,27	1695,2827,1981	CC,CG,GG		39.3488,22.719,47.801	benign,benign,benign,benign,benign	333/790,344/801,290/747,336/793,340/797	116510817	6217,6789	2203	4300	6503	SO:0001583	missense	57628	exon11			AACCGAGCTCAGA	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1018G>C	2.37:g.116510817G>C	ENSP00000386565:p.Ala340Pro	Somatic	257	2	0.0077821		WXS	Illumina HiSeq	Phase_I	186	84	0.451613	NM_001178034	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	1249	0.5718864468864469	92	0.18699186991869918	254	0.7016574585635359	429	0.75	474	0.6253298153034301	C	10.02	1.237402	0.22711	0.22719	0.606512	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.1	3.2	0.36748	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.270402	0.36893	N	0.002354	T	0.00012	0.0000	L	0.42744	1.35	0.50467	P	1.24000000000013E-4	B;B;B;B	0.18310	0.01;0.0;0.027;0.013	B;B;B;B	0.10450	0.002;0.0;0.005;0.004	T	0.17289	-1.0374	9	0.19147	T	0.46	-19.192	17.1445	0.86763	0.0:0.5308:0.4691:0.0	rs2053724;rs52799400;rs60675889;rs2053724	333;344;336;340	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	340;290;344;333;290	ENSP00000386565:A340P;ENSP00000387038:A290P;ENSP00000376855:A344P;ENSP00000309066:A333P	ENSP00000309066:A333P	A	+	1	0	DPP10	116227287	1.000000	0.71417	0.991000	0.47740	0.927000	0.56198	1.938000	0.40203	0.734000	0.32515	-0.127000	0.14921	GCT	G|0.483;C|0.517	0.517	strong		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		C	116510817	G	C	116510817	3	2	23	1	0	0	0	0	1	0	0	0	4727	971	34	4	1231	4	DPP10	2	116510817	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2253977	116510817	126688556	632	17088										
PCDP1	200373	hgsc.bcm.edu	37	chr2	120383248	120383248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaagattggccaagcaaaAcaatcgatagcacaaggtga	10	7	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:120383248A>G	ENST00000413369.3	+	15	1587	c.1500A>G	c.(1498-1500)aaA>aaG	p.K500K	PCDP1_ENST00000602047.1_Silent_p.K214K|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GCCAAGCAAAACAATCGATAG	0.428																																					p.K500K		Atlas-SNP	.											.	.	.	.	0			c.A1500G						PASS	.						130	111	117					2																	120383248		2203	4300	6503	SO:0001819	synonymous_variant	0	exon15			AGCAAAACAATCG																												ENST00000413369.3:c.1500A>G	2.37:g.120383248A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	113	36	0.318584	NM_001271049		Silent	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	A	2.807	-0.247935	0.05867	.	.	ENSG00000163075	ENST00000443972;ENST00000413057	.	.	.	4.45	0.852	0.18995	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	-6.3731	6.1027	0.20057	0.6942:0.0:0.3058:0.0	.	.	.	.	S	59;48	.	.	N	+	2	0	AC069154.2	120099718	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.160000	0.16462	0.142000	0.18901	0.533000	0.62120	AAC	.	.	none		0.428	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			G	120383248	A	G	120383248	2	3	23	1	0	0	0	0	0	0	0	1	11572	40	2	2		2	PCDP1	2	120383248	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3872431	120383248	122816125	633	17089										
PTPN4	5775	hgsc.bcm.edu	37	chr2	120734589	120734589	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatttgtatgtgaagctatTttgaaagtttatgaagaagg	11	1	0	5			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:120734589T>A	ENST00000263708.2	+	27	3495	c.2724T>A	c.(2722-2724)atT>atA	p.I908I	PTPN4_ENST00000544261.1_Silent_p.I541I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	908	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GTGAAGCTATTTTGAAAGTTT	0.328																																					p.I908I		Atlas-SNP	.											PTPN4,NS,carcinoma,+2,1	PTPN4	89	1	0			c.T2724A						PASS	.						53	54	54					2																	120734589		2202	4299	6501	SO:0001819	synonymous_variant	5775	exon27			AGCTATTTTGAAA		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2724T>A	2.37:g.120734589T>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	133	51	0.383459	NM_002830	B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	4.925	0.171834	0.09391	.	.	ENSG00000088179	ENST00000441089	.	.	.	5.12	3.96	0.45880	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50048	-0.8873	4	.	.	.	.	6.0894	0.19985	0.1433:0.0767:0.0:0.78	.	.	.	.	I	201	.	.	F	+	1	0	PTPN4	120451059	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.465000	0.45075	0.798000	0.33994	0.528000	0.53228	TTT	.	.	none		0.328	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120734589	T	A	120734589	2	1	23	1	0	0	0	0	0	0	0	1	12790	1829	64	5		5	PTPN4	2	120734589	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	351341	120734589	122464784	634	17090										
GLI2	2736	hgsc.bcm.edu	37	chr2	121742124	121742124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccggaagcatgtgaaaacGgtccacggcccagatgccca	11	14	0	2	rs61732852	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:121742124G>A	ENST00000452319.1	+	12	1821	c.1761G>A	c.(1759-1761)acG>acA	p.T587T	GLI2_ENST00000361492.4_Silent_p.T587T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.T259T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGTGAAAACGGTCCACGGCC	0.597													G|||	22	0.00439297	0.0	0.0043	5008	,	,		19759	0.0		0.0139	False		,,,				2504	0.0051				p.T587T		Atlas-SNP	.											.	GLI2	187	.	0			c.G1761A						PASS	.	G		13,4393	19.1+/-41.9	0,13,2190	154	147	149		1761	-9	0.3	2	dbSNP_129	149	117,8483	61.7+/-123.6	0,117,4183	no	coding-synonymous	GLI2	NM_005270.4		0,130,6373	AA,AG,GG		1.3605,0.2951,0.9995		587/1587	121742124	130,12876	2203	4300	6503	SO:0001819	synonymous_variant	2736	exon11			GAAAACGGTCCAC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1761G>A	2.37:g.121742124G>A		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	180	83	0.461111	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																			G|0.991;A|0.009	0.009	strong		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121742124	G	A	121742124	2	1	23	1	0	0	0	0	0	0	0	1	6438	1103	39	1		1	GLI2	2	121742124	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1007535	121742124	121457249	635	17091										
GLI2	2736	hgsc.bcm.edu	37	chr2	121742307	121742307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgtcagagccatcaagacCgagagctccggggtaagcgg	14	12	2	3	rs13008360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:121742307C>T	ENST00000452319.1	+	12	2004	c.1944C>T	c.(1942-1944)acC>acT	p.T648T	GLI2_ENST00000361492.4_Silent_p.T648T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.T320T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCATCAAGACCGAGAGCTCCG	0.701													C|||	40	0.00798722	0.0015	0.0101	5008	,	,		16587	0.0		0.0308	False		,,,				2504	0.0				p.T648T		Atlas-SNP	.											GLI2,NS,carcinoma,0,1	GLI2	187	1	0			c.C1944T						scavenged	.	C		26,4366		0,26,2170	21	22	22		1944	-5.5	1	2	dbSNP_121	22	229,8367		4,221,4073	no	coding-synonymous	GLI2	NM_005270.4		4,247,6243	TT,TC,CC		2.664,0.592,1.9634		648/1587	121742307	255,12733	2196	4298	6494	SO:0001819	synonymous_variant	2736	exon11			CAAGACCGAGAGC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1944C>T	2.37:g.121742307C>T		Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	84	47	0.559524	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																			C|0.984;T|0.016	0.016	strong		0.701	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121742307	C	T	121742307	2	4	23	1	0	0	0	0	0	0	0	1	6438	639	23	1		1	GLI2	2	121742307	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	183	121742307	121457066	636	17092										
CYP27C1	339761	hgsc.bcm.edu	37	chr2	127956964	127956964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agactcaccgtgtcgacgccGgccagcagcatctcagtcac	10	16	3	1	rs149542135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:127956964G>A	ENST00000335247.7	-	4	670	c.540C>T	c.(538-540)gcC>gcT	p.A180A	CYP27C1_ENST00000409327.1_Silent_p.A180A	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	180						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGTCGACGCCGGCCAGCAGCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19906	0.0		0.002	False		,,,				2504	0.0				p.A180A		Atlas-SNP	.											.	CYP27C1	52	.	0			c.C540T						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	158	139	145		540	-2.6	0.9	2	dbSNP_134	145	16,8584	11.2+/-40.8	1,14,4285	no	coding-synonymous	CYP27C1	NM_001001665.3		1,15,6487	AA,AG,GG		0.186,0.0227,0.1307		180/373	127956964	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	339761	exon4			GACGCCGGCCAGC	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.540C>T	2.37:g.127956964G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	141	72	0.510638	NM_001001665	Q6ZNI7	Silent	SNP	ENST00000335247.7	37	CCDS33285.1																																																																																			G|0.999;A|0.001	0.001	strong		0.582	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		A	127956964	G	A	127956964	2	1	23	1	0	0	0	0	0	0	0	1	4160	1103	39	1		1	CYP27C1	2	127956964	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6214657	127956964	115242409	637	17093										
MYO7B	4648	hgsc.bcm.edu	37	chr2	128367241	128367241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccacacacacatccggcGgcccctccgatacccgttgc	8	20	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:128367241G>A	ENST00000409816.2	+	22	3007	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R992Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R992Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACATCCGGCGGCCCCTCCGA	0.587																																					p.R992Q		Atlas-SNP	.											MYO7B_ENST00000428314,NS,carcinoma,+1,2	MYO7B	359	2	0			c.G2975A						scavenged	.						90	101	97					2																	128367241		2009	4162	6171	SO:0001583	missense	4648	exon23			TCCGGCGGCCCCT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2975G>A	2.37:g.128367241G>A	ENSP00000386461:p.Arg992Gln	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	234	5	0.0213675	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720104	0.30503	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87966	-2.32;-2.32;-2.32	5.28	1.43	0.22495	MyTH4 domain (2);	0.587434	0.16502	N	0.211620	T	0.79323	0.4426	L	0.38649	1.16	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.65903	-0.6055	10	0.45353	T	0.12	.	9.2107	0.37318	0.4505:0.0:0.5495:0.0	.	992	Q6PIF6	MYO7B_HUMAN	Q	992	ENSP00000374175:R992Q;ENSP00000415090:R992Q;ENSP00000386461:R992Q	ENSP00000374175:R992Q	R	+	2	0	MYO7B	128083711	0.000000	0.05858	0.104000	0.21259	0.677000	0.39632	-0.204000	0.09425	-0.013000	0.14199	-0.258000	0.10820	CGG	.	.	none		0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367241	G	A	128367241	3	1	23	1	0	0	0	0	1	0	0	0	10083	1116	39	1	3061	1	MYO7B	2	128367241	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	410277	128367241	114832132	638	17094										
WDR33	55339	hgsc.bcm.edu	37	chr2	128464116	128464116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actctctgagcaggtcctggGccccctcggcctgaaacaaa	10	15	1	2	rs34550770	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:128464116G>A	ENST00000322313.4	-	22	3950	c.3792C>T	c.(3790-3792)ggC>ggT	p.G1264G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1264					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CAGGTCCTGGGCCCCCTCGGC	0.493													G|||	191	0.038139	0.0053	0.0519	5008	,	,		18704	0.0		0.1143	False		,,,				2504	0.0337				p.G1264G		Atlas-SNP	.											.	WDR33	136	.	0			c.C3792T						PASS	.	G		89,4317	75.2+/-113.4	0,89,2114	47	51	50		3792	4.2	1	2	dbSNP_126	50	802,7798	186.7+/-234.1	45,712,3543	no	coding-synonymous	WDR33	NM_018383.4		45,801,5657	AA,AG,GG		9.3256,2.02,6.8507		1264/1337	128464116	891,12115	2203	4300	6503	SO:0001819	synonymous_variant	55339	exon22			TCCTGGGCCCCCT		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3792C>T	2.37:g.128464116G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	62	31	0.5	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																			G|0.935;A|0.065	0.065	strong		0.493	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		A	128464116	G	A	128464116	2	1	23	1	0	0	0	0	0	0	0	1	17284	1190	42	2		2	WDR33	2	128464116	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	96875	128464116	114735257	639	17095										
POLR2D	5433	hgsc.bcm.edu	37	chr2	128610648	128610648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagaagcatatgaacttcTgaatttagaagtgtctcagc	8	8	2	4	rs10210695	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:128610648T>C	ENST00000272645.4	-	2	161	c.105A>G	c.(103-105)tcA>tcG	p.S35S	POLR2D_ENST00000409955.1_Silent_p.S35S|POLR2D_ENST00000409698.1_5'UTR|POLR2D_ENST00000487079.1_Intron	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	35					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TATGAACTTCTGAATTTAGAA	0.383													T|||	619	0.123602	0.2859	0.0735	5008	,	,		20607	0.0466		0.1024	False		,,,				2504	0.0409				p.S35S		Atlas-SNP	.											.	POLR2D	13	.	0			c.A105G						PASS	.	T		1219,3187	425.7+/-340.9	172,875,1156	136	131	133		105	-9.8	0.9	2	dbSNP_119	133	994,7606	213.9+/-253.7	49,896,3355	no	coding-synonymous	POLR2D	NM_004805.3		221,1771,4511	CC,CT,TT		11.5581,27.6668,17.0152		35/143	128610648	2213,10793	2203	4300	6503	SO:0001819	synonymous_variant	5433	exon2			AACTTCTGAATTT	U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"RNA polymerase subunits"	9191	protein-coding gene	gene with protein product	"RNA polymerase II subunit hsRBP4"	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.105A>G	2.37:g.128610648T>C		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	148	59	0.398649	NM_004805	Q52LT4	Silent	SNP	ENST00000272645.4	37	CCDS2151.1																																																																																			T|0.848;C|0.152	0.152	strong		0.383	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805		C	128610648	T	C	128610648	2	2	23	1	0	0	0	0	0	0	0	1	12217	1567	55	3		3	POLR2D	2	128610648	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	146532	128610648	114588725	640	17096										
HS6ST1	9394	hgsc.bcm.edu	37	chr2	129025800	129025800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcggcccggctcgtcggcaTcctcccgcggcagtgcctcc	13	20	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:129025800T>C	ENST00000259241.6	-	2	1185	c.1172A>G	c.(1171-1173)gAt>gGt	p.D391G		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	391					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CTCGTCGGCATCCTCCCGCGG	0.692																																					p.D391G		Atlas-SNP	.											.	HS6ST1	31	.	0			c.A1172G						PASS	.						21	23	22					2																	129025800		2013	4161	6174	SO:0001583	missense	9394	exon2			TCGGCATCCTCCC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1172A>G	2.37:g.129025800T>C	ENSP00000259241:p.Asp391Gly	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_004807	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	T	6.511	0.462424	0.12342	.	.	ENSG00000136720	ENST00000259241	D	0.82893	-1.66	4.19	2.98	0.34508	.	0.419922	0.27622	N	0.018544	T	0.70710	0.3255	L	0.29908	0.895	0.32984	D	0.524007	B	0.02656	0.0	B	0.01281	0.0	T	0.65726	-0.6098	9	.	.	.	-2.5669	9.8137	0.40840	0.0:0.0842:0.0:0.9158	.	391	O60243	H6ST1_HUMAN	G	391	ENSP00000259241:D391G	.	D	-	2	0	HS6ST1	128742270	0.994000	0.37717	0.051000	0.19133	0.159000	0.22180	2.428000	0.44749	0.558000	0.29135	0.260000	0.18958	GAT	.	.	none		0.692	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		C	129025800	T	C	129025800	3	2	23	1	0	0	0	0	1	0	0	0	7370	1435	50	2	67	2	HS6ST1	2	129025800	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	415152	129025800	114173573	641	17097										
TUBA3E	112714	hgsc.bcm.edu	37	chr2	130951488	130951488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcaggccatgtacttgccAtggcgagggtcacacttgac	12	12	1	1	rs2443644	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:130951488A>G	ENST00000312988.7	-	4	1027	c.927T>C	c.(925-927)caT>caC	p.H309H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	309					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGTACTTGCCATGGCGAGGGT	0.577																																					p.H309H		Atlas-SNP	.											TUBA3E,right_upper_lobe,carcinoma,-1,1	TUBA3E	73	1	0			c.T927C						scavenged	.						155	139	145					2																	130951488		2203	4300	6503	SO:0001819	synonymous_variant	112714	exon4			CTTGCCATGGCGA	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.927T>C	2.37:g.130951488A>G		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	248	58	0.233871	NM_207312		Silent	SNP	ENST00000312988.7	37	CCDS2158.1																																																																																			A|0.985;G|0.015	0.015	strong		0.577	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		G	130951488	A	G	130951488	2	3	23	1	0	0	0	0	0	0	0	1	16745	214	8	2		2	TUBA3E	2	130951488	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1925688	130951488	112247885	642	17098										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021684	132021684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctggctgggcgggaactgCctgactacctcatgaagatc	12	12	1	3	rs2672150		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:132021684C>A	ENST00000356920.5	+	15	2750	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGGAACTGCCTGACTACCT	0.592																																					p.P886T		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,-1,1	.	.	1	0			c.C2656A						scavenged	.						46	47	47					2																	132021684		2203	4281	6484	SO:0001583	missense	445582	exon15			GAACTGCCTGACT	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2656C>A	2.37:g.132021684C>A	ENSP00000439189:p.Pro886Thr	Somatic	608	10	0.0164474		WXS	Illumina HiSeq	Phase_I	480	8	0.0166667	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	3.880	-0.026136	0.07589	.	.	ENSG00000188219	ENST00000356920	T	0.04360	3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59606	-0.7423	8	0.02654	T	1	.	4.0636	0.09849	0.6406:0.3593:1.0E-4:0.0	.	886	Q6S8J3	POTEE_HUMAN	T	886	ENSP00000439189:P886T	ENSP00000439189:P886T	P	+	1	0	AC131180.1	131738154	1.000000	0.71417	0.081000	0.20488	0.082000	0.17680	4.531000	0.60602	-2.143000	0.00803	-2.210000	0.00300	CCT	.	.	weak		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021684	C	A	132021684	3	1	23	1	0	0	0	0	1	0	0	0	12264	739	26	4	2714	4	POTEE	2	132021684	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1070196	132021684	111177689	643	17099										
CCDC74A	90557	hgsc.bcm.edu	37	chr2	132289293	132289293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagattcaaaagctgacgtcTcccagaaggcggacctggaa	11	10	2	3	rs149647165	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:132289293T>C	ENST00000295171.6	+	4	739	c.601T>C	c.(601-603)Tcc>Ccc	p.S201P	CCDC74A_ENST00000409856.3_Missense_Mutation_p.S135P|CCDC74A_ENST00000467992.2_Missense_Mutation_p.S303P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	201										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTGACGTCTCCCAGAAGGC	0.582													N|||	1396	0.278754	0.553	0.1787	5008	,	,		12784	0.3452		0.0875	False		,,,				2504	0.1074				p.S243P		Atlas-SNP	.											CCDC74A,NS,carcinoma,-2,1	CCDC74A	44	1	0			c.T727C						scavenged	.						60	102	89					2																	132289293		1843	4191	6034	SO:0001583	missense	90557	exon4			GACGTCTCCCAGA		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.601T>C	2.37:g.132289293T>C	ENSP00000295171:p.Ser201Pro	Somatic	203	2	0.00985222		WXS	Illumina HiSeq	Phase_I	114	31	0.27193	NM_001258304	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	635	0.2907509157509158	166	0.33739837398373984	105	0.2900552486187845	255	0.4458041958041958	109	0.1437994722955145	.	0.001	-3.126559	0.00031	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.45668	2.03;2.05;0.89;0.9	1.57	0.658	0.17855	.	0.634264	0.12332	N	0.478305	T	0.00012	0.0000	N	0.00170	-1.935	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.02654	T	1	-0.2433	4.0985	0.10002	0.0:0.5799:0.0:0.4201	.	135;201	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	P	201;135;130;303	ENSP00000295171:S201P;ENSP00000387009:S135P;ENSP00000406839:S130P;ENSP00000444610:S303P	ENSP00000295171:S201P	S	+	1	0	CCDC74A	132005763	0.000000	0.05858	0.037000	0.18230	0.168000	0.22595	-0.493000	0.06459	-0.120000	0.11809	-1.033000	0.02402	TCC	T|0.300;C|0.700	0.700	strong		0.582	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132289293	T	C	132289293	3	2	23	1	0	0	0	0	1	0	0	0	2847	1551	54	3	615	3	CCDC74A	2	132289293	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	267609	132289293	110910080	644	17100										
CCDC74A	90557	hgsc.bcm.edu	37	chr2	132290464	132290464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctcaagtccctcctggaaGggagccagaggccccaggca	12	15	1	1	rs13660	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:132290464G>A	ENST00000295171.6	+	6	1042	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236R|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).							endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTCCTGGAAGGGAGCCAGAG	0.687													g|||	615	0.122804	0.2965	0.085	5008	,	,		17235	0.004		0.1014	False		,,,				2504	0.0593				p.G302R		Atlas-SNP	.											CCDC74A,NS,carcinoma,-1,3	CCDC74A	44	3	0			c.G904A						PASS	.	G	ARG/GLY	1057,3349		80,897,1226	44	51	49		904	0.7	0.9	2	dbSNP_52	49	836,7764		21,794,3485	no	missense	CCDC74A	NM_138770.1	125	101,1691,4711	AA,AG,GG		9.7209,23.99,14.5548	probably-damaging	302/379	132290464	1893,11113	2203	4300	6503	SO:0001583	missense	90557	exon6			CTGGAAGGGAGCC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.904G>A	2.37:g.132290464G>A	ENSP00000295171:p.Gly302Arg	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	195	94	0.482051	NM_138770	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	261	0.11950549450549451	152	0.3089430894308943	36	0.09944751381215469	2	0.0034965034965034965	71	0.09366754617414248	.	2.586	-0.296297	0.05532	0.2399	0.097209	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.34859	1.34;1.34	2.66	0.709	0.18150	.	0.449735	0.16074	U	0.230852	T	0.00012	0.0000	M	0.63428	1.95	0.36962	P	0.10658500000000004	B;B	0.14805	0.011;0.001	B;B	0.12156	0.007;0.004	T	0.19877	-1.0292	9	0.59425	D	0.04	.	6.2901	0.21054	0.2757:0.0:0.7243:0.0	.	236;302	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	R	302;236	ENSP00000295171:G302R;ENSP00000387009:G236R	ENSP00000295171:G302R	G	+	1	0	CCDC74A	132006934	0.360000	0.24964	0.927000	0.36925	0.165000	0.22458	0.204000	0.17335	-0.226000	0.09899	-1.050000	0.02344	GGG	G|0.866;A|0.134	0.134	strong		0.687	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		A	132290464	G	A	132290464	3	1	23	1	0	0	0	0	1	0	0	0	2847	1000	35	2	926	2	CCDC74A	2	132290464	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1171	132290464	110908909	645	17101										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141707868	141707868	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtcattgtcaccatcacaGgcccagtggcctgggatgca	11	13	3	0	rs6748626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:141707868G>T	ENST00000389484.3	-	20	4043	c.3072C>A	c.(3070-3072)gcC>gcA	p.A1024A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1024	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCATCACAGGCCCAGTGGC	0.443										TSP Lung(27;0.18)			G|||	1381	0.275759	0.4735	0.2378	5008	,	,		16069	0.249		0.1402	False		,,,				2504	0.2025				p.A1024A	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.C3072A						PASS	.	G		1721,2685	517.2+/-369.4	334,1053,816	89	64	73		3072	0.2	1	2	dbSNP_116	73	1182,7418	241.0+/-271.5	85,1012,3203	yes	coding-synonymous	LRP1B	NM_018557.2		419,2065,4019	TT,TG,GG		13.7442,39.0604,22.3205		1024/4600	141707868	2903,10103	2203	4300	6503	SO:0001819	synonymous_variant	53353	exon20			ATCACAGGCCCAG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3072C>A	2.37:g.141707868G>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	200	101	0.505	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			G|0.770;T|0.230	0.230	strong		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141707868	G	T	141707868	2	4	23	1	0	0	0	0	0	0	0	1	8955	987	35	4		4	LRP1B	2	141707868	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9417404	141707868	101491505	646	17102										
ZEB2	9839	hgsc.bcm.edu	37	chr2	145156851	145156851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaagtacagatgacaagaGgagggctttattatcaacaa	10	5	1	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:145156851G>A	ENST00000558170.2	-	8	3087	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	ZEB2_ENST00000539609.3_Missense_Mutation_p.L611F|ZEB2_ENST00000303660.4_Missense_Mutation_p.L635F|ZEB2_ENST00000409487.3_Missense_Mutation_p.L635F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	635					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.L635I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATGACAAGAGGAGGGCTTTA	0.428																																					p.L635F	Melanoma(33;1235 1264 5755 16332)	Atlas-SNP	.											ZEB2,NS,carcinoma,0,1	ZEB2	218	1	1	Substitution - Missense(1)	endometrium(1)	c.C1903T						scavenged	.						66	67	67					2																	145156851		2203	4300	6503	SO:0001583	missense	9839	exon8			ACAAGAGGAGGGC	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1903C>T	2.37:g.145156851G>A	ENSP00000454157:p.Leu635Phe	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	162	3	0.0185185	NM_014795	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049787	0.36181	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.13778	2.58;2.56;2.56;2.71	5.75	5.75	0.90469	.	0.120820	0.56097	D	0.000025	T	0.21468	0.0517	L	0.38175	1.15	0.54753	D	0.999989	P;D;P;D	0.62365	0.865;0.965;0.845;0.991	B;P;B;P	0.55455	0.295;0.656;0.298;0.776	T	0.00150	-1.1986	10	0.46703	T	0.11	-6.942	13.6118	0.62083	0.0799:0.0:0.9201:0.0	.	611;500;634;635	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	F	611;635;635;635	ENSP00000443792:L611F;ENSP00000302501:L635F;ENSP00000386854:L635F;ENSP00000395496:L635F	ENSP00000302501:L635F	L	-	1	0	ZEB2	144873321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.818000	0.48041	2.705000	0.92388	0.655000	0.94253	CTC	.	.	none		0.428	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		A	145156851	G	A	145156851	3	1	23	1	0	0	0	0	1	0	0	0	17621	1000	35	2	1753	2	ZEB2	2	145156851	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3448983	145156851	98042522	647	17103										
ORC4L	5000	hgsc.bcm.edu	37	chr2	148730367	148730367	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagttactctctccatggaGagcagttcttttcagcagct	9	10	3	2	rs2307397	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:148730367G>C	ENST00000392857.5	-	4	273	c.166C>G	c.(166-168)Ctc>Gtc	p.L56V	ORC4_ENST00000536575.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.L56V|ORC4_ENST00000392858.1_Missense_Mutation_p.L56V|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000535373.1_Missense_Mutation_p.L56V	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	56			L -> V (in dbSNP:rs2307397). {ECO:0000269|Ref.4}.		DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTCCATGGAGAGCAGTTCTT	0.358													G|||	86	0.0171725	0.0045	0.0288	5008	,	,		13467	0.0		0.0447	False		,,,				2504	0.0153				p.L56V		Atlas-SNP	.											.	ORC4	40	.	0			c.C166G						PASS	.	G	VAL/LEU,,,VAL/LEU,VAL/LEU,VAL/LEU	51,4355	51.6+/-87.1	1,49,2153	73	75	74		166,,,166,166,166	2.3	1	2	dbSNP_100	74	464,8136	138.3+/-195.1	13,438,3849	yes	missense,intron,utr-5,missense,missense,missense	ORC4	NM_001190879.2,NM_001190881.2,NM_001190882.2,NM_002552.4,NM_181741.3,NM_181742.3	32,,,32,32,32	14,487,6002	CC,CG,GG		5.3953,1.1575,3.9597	benign,,,benign,benign,benign	56/437,,,56/437,56/437,56/437	148730367	515,12491	2203	4300	6503	SO:0001583	missense	5000	exon4			CATGGAGAGCAGT	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.166C>G	2.37:g.148730367G>C	ENSP00000376597:p.Leu56Val	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	206	122	0.592233	NM_002552	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	56	0.02564102564102564	6	0.012195121951219513	14	0.03867403314917127	0	0.0	36	0.047493403693931395	G	9.786	1.176749	0.21704	0.011575	0.053953	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000392857;ENST00000416719;ENST00000457954;ENST00000440042	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.88	2.28	0.28536	.	0.171869	0.51477	N	0.000088	T	0.03608	0.0103	N	0.01257	-0.925	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.01961	-1.1239	10	0.26408	T	0.33	-4.2923	4.915	0.13842	0.0:0.2245:0.1536:0.6219	rs2307397;rs17219015;rs56449945;rs2307397	56;56;56	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	V	56	ENSP00000264169:L56V;ENSP00000441953:L56V;ENSP00000376598:L56V;ENSP00000376597:L56V;ENSP00000413939:L56V;ENSP00000391484:L56V;ENSP00000403105:L56V	ENSP00000264169:L56V	L	-	1	0	ORC4	148446837	0.997000	0.39634	1.000000	0.80357	0.885000	0.51271	0.434000	0.21494	0.487000	0.27698	-0.266000	0.10368	CTC	G|0.964;C|0.036	0.036	strong		0.358	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		C	148730367	G	C	148730367	3	2	23	1	0	0	0	0	1	0	0	0	11264	942	33	4	1188	4	ORC4L	2	148730367	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3573516	148730367	94469006	648	17104										
KIF5C	3800	hgsc.bcm.edu	37	chr2	149799216	149799216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcggtttgtgtcgagcccTgaggaagtcatggatgtaat	15	6	1	1	rs61734995	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:149799216T>C	ENST00000435030.1	+	7	899	c.531T>C	c.(529-531)ccT>ccC	p.P177P	KIF5C_ENST00000414838.2_Silent_p.P82P			O60282	KIF5C_HUMAN	kinesin family member 5C	177	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTCGAGCCCTGAGGAAGTCA	0.488													C|||	750	0.14976	0.3427	0.1037	5008	,	,		19701	0.0347		0.1064	False		,,,				2504	0.0849				p.P177P		Atlas-SNP	.											.	KIF5C	166	.	0			c.T531C						PASS	.	C		1115,2823		164,787,1018	74	73	73		242	-11	0	2	dbSNP_129	73	765,7533		44,677,3428	no	coding-synonymous	KIF5C	NM_004522.1		208,1464,4446	CC,CT,TT		9.2191,28.3139,15.3645		177/958	149799216	1880,10356	1969	4149	6118	SO:0001819	synonymous_variant	3800	exon7			GAGCCCTGAGGAA	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.531T>C	2.37:g.149799216T>C		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	192	88	0.458333	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				T|0.860;C|0.140	0.140	strong		0.488	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		C	149799216	T	C	149799216	2	2	23	1	0	0	0	0	0	0	0	1	8307	1567	55	3		3	KIF5C	2	149799216	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1068849	149799216	93400157	649	17105										
KIF5C	3800	hgsc.bcm.edu	37	chr2	149806388	149806388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgagggagctgttcttgaCgaagctaaaaatatcaataa	10	7	2	1	rs60169973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:149806388C>T	ENST00000435030.1	+	9	1118	c.750C>T	c.(748-750)gaC>gaT	p.D250D	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.D18D|KIF5C_ENST00000414838.2_Silent_p.D155D			O60282	KIF5C_HUMAN	kinesin family member 5C	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGTTCTTGACGAAGCTAAAA	0.443													C|||	654	0.130591	0.3086	0.0965	5008	,	,		18947	0.0159		0.0924	False		,,,				2504	0.0716				p.D250D		Atlas-SNP	.											.	KIF5C	166	.	0			c.C750T						PASS	.	C		997,2855		141,715,1070	105	102	103		461	-7.3	0.3	2	dbSNP_129	103	701,7595		36,629,3483	no	coding-synonymous	KIF5C	NM_004522.1		177,1344,4553	TT,TC,CC		8.4499,25.8827,13.9776		250/958	149806388	1698,10450	1926	4148	6074	SO:0001819	synonymous_variant	3800	exon9			TCTTGACGAAGCT	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.750C>T	2.37:g.149806388C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	155	67	0.432258	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				C|0.884;T|0.116	0.116	strong		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		T	149806388	C	T	149806388	2	4	23	1	0	0	0	0	0	0	0	1	8307	535	19	1		1	KIF5C	2	149806388	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7172	149806388	93392985	650	17106										
TNFAIP6	7130	hgsc.bcm.edu	37	chr2	152226570	152226570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtctttacagatccaaagcAaatttttaaatctccaggct	5	10	2	1	rs1046668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:152226570A>G	ENST00000243347.3	+	4	506	c.431A>G	c.(430-432)cAa>cGa	p.Q144R	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	144	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.		Q -> R (in dbSNP:rs1046668). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1730767}.		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GATCCAAAGCAAATTTTTAAA	0.383													G|||	887	0.177117	0.3033	0.1138	5008	,	,		17071	0.1329		0.1382	False		,,,				2504	0.137				p.Q144R		Atlas-SNP	.											.	TNFAIP6	98	.	0			c.A431G						PASS	.	G	ARG/GLN	1301,3105	695.6+/-406.0	199,903,1101	112	113	113		431	3.5	1	2	dbSNP_86	113	1188,7412	763.4+/-407.6	77,1034,3189	yes	missense	TNFAIP6	NM_007115.3	43	276,1937,4290	GG,GA,AA		13.814,29.5279,19.1373	benign	144/278	152226570	2489,10517	2203	4300	6503	SO:0001583	missense	7130	exon4			CAAAGCAAATTTT		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.431A>G	2.37:g.152226570A>G	ENSP00000243347:p.Gln144Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	70	39	0.557143	NM_007115	Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	CCDS2193.1	389	0.17811355311355312	144	0.2926829268292683	39	0.10773480662983426	96	0.16783216783216784	110	0.14511873350923482	G	0.071	-1.201428	0.01581	0.295279	0.13814	ENSG00000123610	ENST00000243347	T	0.28255	1.62	5.27	3.46	0.39613	CUB (5);	0.247185	0.38436	N	0.001692	T	0.00012	0.0000	N	0.05383	-0.06	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.42905	T	0.14	.	5.9954	0.19491	0.2722:0.1359:0.592:0.0	rs1046668;rs3186656;rs17411793;rs56445941;rs61444688;rs1046668	144	P98066	TSG6_HUMAN	R	144	ENSP00000243347:Q144R	ENSP00000243347:Q144R	Q	+	2	0	TNFAIP6	151934816	0.990000	0.36364	0.963000	0.40424	0.230000	0.25150	1.071000	0.30666	0.225000	0.20959	-0.227000	0.12334	CAA	A|0.810;G|0.190	0.190	strong		0.383	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		G	152226570	A	G	152226570	3	3	23	1	0	0	0	0	1	0	0	0	16272	130	5	2	445	2	TNFAIP6	2	152226570	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2420182	152226570	90972803	651	17107										
NEB	4703	hgsc.bcm.edu	37	chr2	152432311	152432311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaaacctctctgtacttTggctgtggaaagaaacaaaa	7	10	1	1	rs33988153	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:152432311T>C	ENST00000172853.10	-	79	11955	c.11808A>G	c.(11806-11808)ccA>ccG	p.P3936P	NEB_ENST00000604864.1_Silent_p.P5637P|NEB_ENST00000427231.2_Silent_p.P5637P|NEB_ENST00000603639.1_Silent_p.P5637P|NEB_ENST00000397345.3_Silent_p.P5637P|NEB_ENST00000409198.1_Silent_p.P3936P			P20929	NEBU_HUMAN	nebulin	3936					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGTACTTTGGCTGTGGAA	0.333													T|||	552	0.110224	0.0113	0.1282	5008	,	,		17816	0.004		0.2406	False		,,,				2504	0.2065				p.P5637P		Atlas-SNP	.											.	NEB	1697	.	0			c.A16911G						PASS	.	T	,,	166,3456		7,152,1652	243	237	239		16911,16911,11808	2.5	1	2	dbSNP_126	239	2064,6090		264,1536,2277	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	271,1688,3929	CC,CT,TT		25.3127,4.5831,18.9368	,,	5637/8526,5637/8526,3936/6670	152432311	2230,9546	1811	4077	5888	SO:0001819	synonymous_variant	4703	exon107			GTACTTTGGCTGT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11808A>G	2.37:g.152432311T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	110	49	0.445455	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																				T|0.853;C|0.147	0.147	strong		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152432311	T	C	152432311	2	2	23	1	0	0	0	0	0	0	0	1	10302	1799	63	2		2	NEB	2	152432311	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	205741	152432311	90767062	652	17108										
FMNL2	114793	hgsc.bcm.edu	37	chr2	153405594	153405594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagaactggaaatttctttGagaactaaccacattgggta	9	6	1	2	rs1155779	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:153405594G>A	ENST00000288670.9	+	4	709	c.342G>A	c.(340-342)ttG>ttA	p.L114L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	114	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAATTTCTTTGAGAACTAACC	0.343													A|||	3267	0.652356	0.4902	0.6715	5008	,	,		13509	0.7976		0.5865	False		,,,				2504	0.7761				p.L114L		Atlas-SNP	.											.	FMNL2	75	.	0			c.G342A						PASS	.	A		1794,1830		449,896,467	71	65	67		342	5.9	1	2	dbSNP_87	67	4816,3328		1406,2004,662	no	coding-synonymous	FMNL2	NM_052905.3		1855,2900,1129	AA,AG,GG		40.8644,49.5033,43.8307		114/1093	153405594	6610,5158	1812	4072	5884	SO:0001819	synonymous_variant	114793	exon4			TTCTTTGAGAACT	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.342G>A	2.37:g.153405594G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	140	55	0.392857	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	CCDS46429.1																																																																																			G|0.375;A|0.625	0.625	strong		0.343	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153405594	G	A	153405594	2	1	23	1	0	0	0	0	0	0	0	1	5952	1281	45	2		2	FMNL2	2	153405594	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	973283	153405594	89793779	653	17109										
MARCH7	64844	hgsc.bcm.edu	37	chr2	160604452	160604452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accatactaagttctagggaCtccagaaattctttaagatc	6	9	2	2	rs11555185	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160604452C>T	ENST00000259050.4	+	5	773	c.651C>T	c.(649-651)gaC>gaT	p.D217D	MARCH7_ENST00000409175.1_Silent_p.D217D|MARCH7_ENST00000539065.1_Silent_p.D161D|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Silent_p.D179D	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	217	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D217D(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTTCTAGGGACTCCAGAAATT	0.378													C|||	1104	0.220447	0.0287	0.4928	5008	,	,		17238	0.2698		0.33	False		,,,				2504	0.1227				p.D217D		Atlas-SNP	.											MARCH7,colon,carcinoma,0,2	MARCH7	48	2	1	Substitution - coding silent(1)	stomach(1)	c.C651T						scavenged	.	C		305,4101	165.1+/-196.6	10,285,1908	84	85	85		651	2.8	0.9	2	dbSNP_120	85	2715,5885	431.8+/-356.9	425,1865,2010	no	coding-synonymous	MARCH7	NM_022826.2		435,2150,3918	TT,TC,CC		31.5698,6.9224,23.2201		217/705	160604452	3020,9986	2203	4300	6503	SO:0001819	synonymous_variant	64844	exon5			TAGGGACTCCAGA	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.651C>T	2.37:g.160604452C>T		Somatic	342	2	0.00584795		WXS	Illumina HiSeq	Phase_I	305	162	0.531148	NM_022826	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	CCDS2210.1																																																																																			C|0.761;T|0.239	0.239	strong		0.378	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		T	160604452	C	T	160604452	2	4	23	1	0	0	0	0	0	0	0	1	9306	564	20	2		2	MARCH7	2	160604452	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7198858	160604452	82594921	654	17110										
LY75	4065	hgsc.bcm.edu	37	chr2	160673526	160673526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtggcagtgtagtattatAttcttctttgtagtcaacta	8	6	3	0	rs2059696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160673526A>G	ENST00000263636.4	-	30	4198	c.4171T>C	c.(4171-4173)Tat>Cat	p.Y1391H	LY75_ENST00000554112.1_Missense_Mutation_p.Y1391H|LY75_ENST00000553424.1_Missense_Mutation_p.Y1391H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y1391H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.Y1391H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1391			Y -> H (in dbSNP:rs2059696).		endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Y1391H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTAGTATTATATTCTTCTTTG	0.284													A|||	1030	0.205671	0.0287	0.4827	5008	,	,		18449	0.2212		0.327	False		,,,				2504	0.1074				p.Y1391H		Atlas-SNP	.											LY75,NS,carcinoma,0,1	LY75	151	1	1	Substitution - Missense(1)	stomach(1)	c.T4171C						PASS	.	A	HIS/TYR,HIS/TYR,HIS/TYR	307,4099	165.4+/-196.9	9,289,1905	75	75	75		4171,4171,4171	2	1	2	dbSNP_94	75	2652,5948	423.7+/-354.4	411,1830,2059	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	83,83,83	420,2119,3964	GG,GA,AA		30.8372,6.9678,22.751	benign,benign,benign	1391/1874,1391/1818,1391/1723	160673526	2959,10047	2203	4300	6503	SO:0001583	missense	4065	exon30			TATTATATTCTTC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4171T>C	2.37:g.160673526A>G	ENSP00000263636:p.Tyr1391His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	543	0.24862637362637363	16	0.032520325203252036	156	0.430939226519337	122	0.21328671328671328	249	0.32849604221635886	A	9.660	1.143804	0.21205	0.069678	0.308372	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.65	1.99	0.26369	.	0.269362	0.19663	N	0.108922	T	0.00012	0.0000	L	0.27053	0.805	0.40886	P	0.015965000000000007	B;B;B	0.14438	0.003;0.003;0.01	B;B;B	0.15484	0.013;0.004;0.01	T	0.48833	-0.9000	9	0.15952	T	0.53	-6.7853	5.9111	0.19029	0.5812:0.1296:0.2892:0.0	rs2059696;rs17230537;rs2059696	1391;1391;1391	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	1391	ENSP00000451511:Y1391H;ENSP00000451446:Y1391H;ENSP00000263636:Y1391H;ENSP00000423463:Y1391H;ENSP00000421035:Y1391H	ENSP00000423463:Y1391H	Y	-	1	0	LY75;LY75-CD302	160381772	0.991000	0.36638	0.995000	0.50966	0.994000	0.84299	0.893000	0.28336	0.166000	0.19597	0.528000	0.53228	TAT	A|0.775;G|0.225	0.225	strong		0.284	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			G	160673526	A	G	160673526	3	3	23	1	0	0	0	0	1	0	0	0	9099	449	16	2	1021	2	LY75	2	160673526	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	69074	160673526	82525847	655	17111										
LY75	4065	hgsc.bcm.edu	37	chr2	160676427	160676427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatcaaaccacataagagaCttatctagagaagaaacatt	5	7	2	3	rs386652068|rs12692566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160676427C>A	ENST00000263636.4	-	29	3990	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N	LY75_ENST00000554112.1_Missense_Mutation_p.K1321N|LY75_ENST00000553424.1_Missense_Mutation_p.K1321N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1321N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1321N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1321	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.		K -> N (in dbSNP:rs12692566). {ECO:0000269|PubMed:12824192, ECO:0000269|PubMed:9553150}.		endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACATAAGAGACTTATCTAGAG	0.323													A|||	4234	0.845447	0.9017	0.879	5008	,	,		16930	0.9058		0.8042	False		,,,				2504	0.726				p.K1321N		Atlas-SNP	.											.	LY75	151	.	0			c.G3963T						PASS	.	A	ASN/LYS,ASN/LYS,ASN/LYS	3915,485	216.8+/-235.3	1740,435,25	49	52	51		3963,3963,3963	4.5	1	2	dbSNP_121	51	7118,1482	278.7+/-293.6	2953,1212,135	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	94,94,94	4693,1647,160	AA,AC,CC		17.2326,11.0227,15.1308	benign,benign,benign	1321/1874,1321/1818,1321/1723	160676427	11033,1967	2200	4300	6500	SO:0001583	missense	4065	exon29			AAGAGACTTATCT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3963G>T	2.37:g.160676427C>A	ENSP00000263636:p.Lys1321Asn	Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	92	91	0.98913	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	1875	0.8585164835164835	451	0.9166666666666666	316	0.8729281767955801	512	0.8951048951048951	596	0.7862796833773087	A	1.043	-0.678141	0.03378	0.889773	0.827674	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.65	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.00012	0.0000	N	0.00996	-1.065	0.51767	P	6.60000000000105E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.30149	-0.9988	8	0.02654	T	1	-7.854	3.4073	0.07345	0.5441:0.2602:0.0703:0.1254	rs12692566;rs17827187;rs52796730;rs56698280;rs12692566	1321;1321;1321	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	N	1321	ENSP00000451511:K1321N;ENSP00000451446:K1321N;ENSP00000263636:K1321N;ENSP00000423463:K1321N;ENSP00000421035:K1321N	ENSP00000423463:K1321N	K	-	3	2	LY75;LY75-CD302	160384673	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.420000	0.21263	0.427000	0.26145	-0.335000	0.08231	AAG	C|0.148;A|0.852	0.852	strong		0.323	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160676427	C	A	160676427	3	1	23	1	0	0	0	0	1	0	0	0	9099	564	20	4	1233	4	LY75	2	160676427	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2901	160676427	82522946	656	17112										
LY75	4065	hgsc.bcm.edu	37	chr2	160697271	160697271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagtccgatccataaggaaGagttgtgaaggagcgcctgc	14	8	0	3	rs147904044	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160697271G>A	ENST00000263636.4	-	25	3503	c.3476C>T	c.(3475-3477)tCt>tTt	p.S1159F	LY75_ENST00000554112.1_Missense_Mutation_p.S1159F|LY75_ENST00000553424.1_Missense_Mutation_p.S1159F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1159F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1159F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1159	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCATAAGGAAGAGTTGTGAAG	0.483													G|||	6	0.00119808	0.0	0.0043	5008	,	,		18429	0.0		0.003	False		,,,				2504	0.0				p.S1159F		Atlas-SNP	.											.	LY75	151	.	0			c.C3476T						PASS	.	G	PHE/SER,PHE/SER,PHE/SER	8,4398	14.3+/-33.2	0,8,2195	150	143	145		3476,3476,3476	3.5	0	2	dbSNP_134	145	45,8555	27.9+/-77.7	0,45,4255	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	155,155,155	0,53,6450	AA,AG,GG		0.5233,0.1816,0.4075	benign,benign,benign	1159/1874,1159/1818,1159/1723	160697271	53,12953	2203	4300	6503	SO:0001583	missense	4065	exon25			AAGGAAGAGTTGT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3476C>T	2.37:g.160697271G>A	ENSP00000263636:p.Ser1159Phe	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	132	61	0.462121	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	5	0.0022893772893772895	0	0.0	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	8.582	0.882464	0.17467	0.001816	0.005233	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.35	3.48	0.39840	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.24392	0.0591	L	0.50919	1.6	0.18873	N	0.999983	P;P;D	0.57571	0.899;0.952;0.98	P;P;P	0.56700	0.509;0.642;0.804	T	0.05194	-1.0900	9	0.44086	T	0.13	-0.8422	10.0198	0.42035	0.0:0.1485:0.6974:0.1541	.	1159;1159;1159	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	F	1159	ENSP00000451511:S1159F;ENSP00000451446:S1159F;ENSP00000263636:S1159F;ENSP00000423463:S1159F;ENSP00000421035:S1159F	ENSP00000423463:S1159F	S	-	2	0	LY75;LY75-CD302	160405517	0.933000	0.31639	0.011000	0.14972	0.281000	0.26958	1.035000	0.30216	0.570000	0.29347	0.655000	0.94253	TCT	G|0.996;A|0.004	0.004	strong		0.483	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160697271	G	A	160697271	3	1	23	1	0	0	0	0	1	0	0	0	9099	942	33	2	1736	2	LY75	2	160697271	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20844	160697271	82502102	657	17113										
LY75	4065	hgsc.bcm.edu	37	chr2	160735174	160735174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtcagattgcagtttgttCcaaaagggacctcatcctca	8	10	3	1	rs147820690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160735174C>T	ENST00000263636.4	-	10	1601	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	LY75_ENST00000554112.1_Missense_Mutation_p.G525E|LY75_ENST00000553424.1_Missense_Mutation_p.G525E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G525E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G525E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	525	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGTTTGTTCCAAAAGGGAC	0.388													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20519	0.0		0.002	False		,,,				2504	0.0				p.G525E		Atlas-SNP	.											.	LY75	151	.	0			c.G1574A						PASS	.	C	GLU/GLY,GLU/GLY,GLU/GLY	5,4401	9.9+/-24.2	0,5,2198	173	156	162		1574,1574,1574	4.4	1	2	dbSNP_134	162	23,8577	16.6+/-54.9	0,23,4277	yes	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	98,98,98	0,28,6475	TT,TC,CC		0.2674,0.1135,0.2153	probably-damaging,probably-damaging,probably-damaging	525/1874,525/1818,525/1723	160735174	28,12978	2203	4300	6503	SO:0001583	missense	4065	exon10			TTTGTTCCAAAAG	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1574G>A	2.37:g.160735174C>T	ENSP00000263636:p.Gly525Glu	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	220	125	0.568182	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	19.40	3.820467	0.71028	0.001135	0.002674	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.51817	0.69;2.98;2.96;0.69;2.98	5.31	4.43	0.53597	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.234809	0.21795	N	0.069012	T	0.66877	0.2834	M	0.73598	2.24	0.48901	D	0.999726	B;D;D;D	0.89917	0.41;1.0;1.0;1.0	P;D;D;D	0.97110	0.45;0.999;1.0;1.0	T	0.67313	-0.5702	10	0.41790	T	0.15	-18.7866	13.1585	0.59531	0.0:0.9209:0.0:0.0791	.	143;525;525;525	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	E	525	ENSP00000451511:G525E;ENSP00000451446:G525E;ENSP00000263636:G525E;ENSP00000423463:G525E;ENSP00000421035:G525E	ENSP00000423463:G525E	G	-	2	0	LY75;LY75-CD302	160443420	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.886000	0.56190	1.367000	0.46095	0.650000	0.86243	GGA	C|0.998;T|0.002	0.002	strong		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160735174	C	T	160735174	3	4	23	1	0	0	0	0	1	0	0	0	9099	855	30	2	3698	2	LY75	2	160735174	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37903	160735174	82464199	658	17114										
ITGB6	3694	hgsc.bcm.edu	37	chr2	160968628	160968628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatgatggttttcccctcAttatctgtagttattaggaa	8	6	2	2	rs16844790	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:160968628A>G	ENST00000283249.2	-	13	2301	c.2064T>C	c.(2062-2064)aaT>aaC	p.N688N	ITGB6_ENST00000409967.2_Silent_p.N581N|ITGB6_ENST00000409872.1_Silent_p.N688N|ITGB6_ENST00000428609.2_Silent_p.N646N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	688					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTTTCCCCTCATTATCTGTAG	0.403													A|||	1074	0.214457	0.2247	0.4222	5008	,	,		18655	0.1796		0.1551	False		,,,				2504	0.1503				p.N688N		Atlas-SNP	.											.	ITGB6	68	.	0			c.T2064C						PASS	.	A		927,3479	355.4+/-313.0	96,735,1372	220	199	206		2064	-6.7	1	2	dbSNP_123	206	1501,7099	283.6+/-296.2	144,1213,2943	no	coding-synonymous	ITGB6	NM_000888.3		240,1948,4315	GG,GA,AA		17.4535,21.0395,18.6683		688/789	160968628	2428,10578	2203	4300	6503	SO:0001819	synonymous_variant	3694	exon13			CCCCTCATTATCT		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2064T>C	2.37:g.160968628A>G		Somatic	340	0	0		WXS	Illumina HiSeq	Phase_I	283	136	0.480565	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	CCDS2212.1																																																																																			A|0.805;G|0.195	0.195	strong		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		G	160968628	A	G	160968628	2	3	23	1	0	0	0	0	0	0	0	1	7899	214	8	2		2	ITGB6	2	160968628	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	233454	160968628	82230745	659	17115										
SCN3A	6328	hgsc.bcm.edu	37	chr2	165987772	165987772	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagtctgaatgatcgcagTacagacaatccctccacatt	6	13	1	3	rs62174900	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:165987772T>G	ENST00000360093.3	-	16	3038	c.2547A>C	c.(2545-2547)gtA>gtC	p.V849V	SCN3A_ENST00000283254.7_Silent_p.V849V|SCN3A_ENST00000409101.3_Silent_p.V800V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	849					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATCGCAGTACAGACAATC	0.333													T|||	910	0.181709	0.0234	0.1787	5008	,	,		11002	0.2728		0.1968	False		,,,				2504	0.2883				p.V849V		Atlas-SNP	.											.	SCN3A	544	.	0			c.A2547C						PASS	.	T	,,	284,4122	155.9+/-189.0	13,258,1932	103	100	101		2400,2400,2547	-1.7	1	2	dbSNP_129	101	1835,6765	328.5+/-318.3	208,1419,2673	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	221,1677,4605	GG,GT,TT		21.3372,6.4458,16.2925	,,	800/1952,800/1952,849/2001	165987772	2119,10887	2203	4300	6503	SO:0001819	synonymous_variant	6328	exon16			TCGCAGTACAGAC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2547A>C	2.37:g.165987772T>G		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	200	93	0.465	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																				T|0.828;G|0.172	0.172	strong		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165987772	T	G	165987772	2	3	23	1	0	0	0	0	0	0	0	1	13918	1625	57	5		5	SCN3A	2	165987772	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5019144	165987772	77211601	660	17116										
SCN3A	6328	hgsc.bcm.edu	37	chr2	166003479	166003479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgaagaactttccaacaGctctcctaacccacctattc	3	15	2	2	rs16850131	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:166003479G>A	ENST00000360093.3	-	12	1932	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	SCN3A_ENST00000283254.7_Silent_p.L481L|RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Silent_p.L481L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	481					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTTCCAACAGCTCTCCTAAC	0.448													A|||	1289	0.257388	0.267	0.2032	5008	,	,		15691	0.3065		0.2008	False		,,,				2504	0.2904				p.L481L		Atlas-SNP	.											.	SCN3A	544	.	0			c.C1441T						PASS	.	A	,,	1089,3317	722.2+/-409.3	138,813,1252	125	125	125		1441,1441,1441	3.7	0.9	2	dbSNP_123	125	1841,6759	730.9+/-406.8	211,1419,2670	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	349,2232,3922	AA,AG,GG		21.407,24.7163,22.5281	,,	481/1952,481/1952,481/2001	166003479	2930,10076	2203	4300	6503	SO:0001819	synonymous_variant	6328	exon12			CCAACAGCTCTCC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1441C>T	2.37:g.166003479G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	244	114	0.467213	NM_001081676	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																				G|0.756;A|0.244	0.244	strong		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	166003479	G	A	166003479	2	1	23	1	0	0	0	0	0	0	0	1	13918	962	34	2		2	SCN3A	2	166003479	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15707	166003479	77195894	661	17117										
SCN2A	6326	hgsc.bcm.edu	37	chr2	166245230	166245230	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggattggccgaatcctacgTctgatcaaaggagcaaaggg	13	8	2	1	rs2060198	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:166245230T>A	ENST00000375437.2	+	27	5204	c.4914T>A	c.(4912-4914)cgT>cgA	p.R1638R	SCN2A_ENST00000375427.2_Silent_p.R1638R|SCN2A_ENST00000283256.6_Silent_p.R1638R|SCN2A_ENST00000357398.3_Silent_p.R1638R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1638					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATCCTACGTCTGATCAAAG	0.483													T|||	1249	0.249401	0.1551	0.2478	5008	,	,		19642	0.253		0.2913	False		,,,				2504	0.3313				p.R1638R		Atlas-SNP	.											SCN2A_ENST00000375437,colon,carcinoma,+2,2	SCN2A	589	2	0			c.T4914A						PASS	.	T	,,	743,3663	306.3+/-289.4	60,623,1520	108	109	109		4914,4914,4914	0.2	1	2	dbSNP_94	109	2395,6199	398.2+/-346.0	317,1761,2219	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	,,	377,2384,3739	AA,AT,TT		27.8683,16.8634,24.1385	,,	1638/2006,1638/2006,1638/2006	166245230	3138,9862	2203	4297	6500	SO:0001819	synonymous_variant	6326	exon26			CCTACGTCTGATC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4914T>A	2.37:g.166245230T>A		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	180	84	0.466667	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.	.	weak		0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166245230	T	A	166245230	2	1	23	1	0	0	0	0	0	0	0	1	13916	1654	58	5		5	SCN2A	2	166245230	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	241751	166245230	76954143	662	17118										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167262169	167262169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtagcatgaacatctctgTcaccatctatcatatgaata	5	9	4	2	rs35344714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167262169T>C	ENST00000409855.1	-	25	5096	c.4970A>G	c.(4969-4971)gAc>gGc	p.D1657G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1657			D -> G (in dbSNP:rs35344714).		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AACATCTCTGTCACCATCTAT	0.378													T|||	266	0.053115	0.031	0.0288	5008	,	,		19281	0.0129		0.0775	False		,,,				2504	0.1166				p.D1657G		Atlas-SNP	.											.	SCN7A	410	.	0			c.A4970G						PASS	.	T	GLY/ASP	158,3554		3,152,1701	256	240	245		4970	0.9	0	2	dbSNP_126	245	807,7383		38,731,3326	yes	missense	SCN7A	NM_002976.3	94	41,883,5027	CC,CT,TT		9.8535,4.2565,8.1079	benign	1657/1683	167262169	965,10937	1856	4095	5951	SO:0001583	missense	6332	exon25			TCTCTGTCACCAT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4970A>G	2.37:g.167262169T>C	ENSP00000386796:p.Asp1657Gly	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	236	106	0.449153	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	87	0.03983516483516483	9	0.018292682926829267	10	0.027624309392265192	12	0.02097902097902098	56	0.07387862796833773	T	6.169	0.399411	0.11696	0.042565	0.098535	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96802	-4.13	4.62	0.936	0.19488	.	0.625902	0.14359	N	0.324601	T	0.21801	0.0525	N	0.13235	0.315	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.64892	-0.6300	9	0.06891	T	0.86	.	6.3668	0.21459	0.0:0.3025:0.0:0.6975	rs35344714	1657	Q01118	SCN7A_HUMAN	G	1657	ENSP00000386796:D1657G	ENSP00000259060:D1657G	D	-	2	0	SCN7A	166970415	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.973000	0.29422	0.074000	0.16767	0.459000	0.35465	GAC	T|0.949;C|0.051	0.051	strong		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			C	167262169	T	C	167262169	3	2	23	1	0	0	0	0	1	0	0	0	13923	1667	58	2	82	2	SCN7A	2	167262169	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1016939	167262169	75937204	663	17119										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167262353	167262353	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgattctatttctgaaaCaactttctccatcctcacat	2	14	4	2	rs3791251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167262353C>G	ENST00000409855.1	-	25	4912	c.4786G>C	c.(4786-4788)Gtt>Ctt	p.V1596L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1596			V -> L (in dbSNP:rs3791251).		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTTCTGAAACAACTTTCTCC	0.418													G|||	378	0.0754792	0.031	0.0288	5008	,	,		18649	0.1121		0.0775	False		,,,				2504	0.1288				p.V1596L		Atlas-SNP	.											.	SCN7A	410	.	0			c.G4786C						PASS	.	G	LEU/VAL	167,3595		3,161,1717	168	165	166		4786	1.6	0.5	2	dbSNP_107	166	803,7421		39,725,3348	yes	missense	SCN7A	NM_002976.3	32	42,886,5065	GG,GC,CC		9.7641,4.4391,8.0928	benign	1596/1683	167262353	970,11016	1881	4112	5993	SO:0001583	missense	6332	exon25			CTGAAACAACTTT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4786G>C	2.37:g.167262353C>G	ENSP00000386796:p.Val1596Leu	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	138	69	0.5	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	154	0.07051282051282051	9	0.018292682926829267	10	0.027624309392265192	79	0.1381118881118881	56	0.07387862796833773	G	2.352	-0.348732	0.05208	0.044391	0.097641	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96427	-4.01	4.51	1.57	0.23409	.	0.443058	0.19214	N	0.119842	T	0.03095	0.0091	N	0.00583	-1.355	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.57797	-0.7749	9	0.30078	T	0.28	.	9.0712	0.36493	0.0:0.1307:0.4321:0.4372	rs3791251;rs52802159;rs3791251	1596	Q01118	SCN7A_HUMAN	L	1596	ENSP00000386796:V1596L	ENSP00000259060:V1596L	V	-	1	0	SCN7A	166970599	0.000000	0.05858	0.516000	0.27786	0.134000	0.20937	-0.387000	0.07361	-0.020000	0.14032	-0.824000	0.03097	GTT	C|0.920;G|0.080	0.080	strong		0.418	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			G	167262353	C	G	167262353	3	3	23	1	0	0	0	0	1	0	0	0	13923	478	17	4	266	4	SCN7A	2	167262353	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	184	167262353	75937020	664	17120										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167262939	167262939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttaacataggcaaaattAtacattccaaatacggcata	4	7	0	0	rs33953730	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167262939A>G	ENST00000409855.1	-	25	4326	c.4200T>C	c.(4198-4200)taT>taC	p.Y1400Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGGCAAAATTATACATTCCAA	0.353													G|||	266	0.053115	0.031	0.0288	5008	,	,		20106	0.0129		0.0775	False		,,,				2504	0.1166				p.Y1400Y		Atlas-SNP	.											SCN7A_ENST00000409855,NS,carcinoma,-1,2	SCN7A	410	2	0			c.T4200C						PASS	.	G		181,3697		3,175,1761	111	110	110		4200	2.2	1	2	dbSNP_126	110	821,7515		38,745,3385	no	coding-synonymous	SCN7A	NM_002976.3		41,920,5146	GG,GA,AA		9.8488,4.6674,8.2037		1400/1683	167262939	1002,11212	1939	4168	6107	SO:0001819	synonymous_variant	6332	exon25			AAAATTATACATT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4200T>C	2.37:g.167262939A>G		Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	351	176	0.501424	NM_002976		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																			A|0.948;G|0.052	0.052	strong		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			G	167262939	A	G	167262939	2	3	23	1	0	0	0	0	0	0	0	1	13923	456	16	2		2	SCN7A	2	167262939	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	586	167262939	75936434	665	17121										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167269629	167269629	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgatccatccattaaatgtTgcctgtaaaaataaaatgca	6	7	0	1	rs33922582	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167269629T>G	ENST00000409855.1	-	21	3543	c.3417A>C	c.(3415-3417)gcA>gcC	p.A1139A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1139					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATTAAATGTTGCCTGTAAAA	0.294													T|||	303	0.0605032	0.059	0.0288	5008	,	,		17441	0.0129		0.0775	False		,,,				2504	0.1166				p.A1139A		Atlas-SNP	.											.	SCN7A	410	.	0			c.A3417C						PASS	.	T		183,3423		3,177,1623	39	36	36		3417	1.5	1	2	dbSNP_126	36	743,7377		30,683,3347	no	coding-synonymous	SCN7A	NM_002976.3		33,860,4970	GG,GT,TT		9.1502,5.0749,7.897		1139/1683	167269629	926,10800	1803	4060	5863	SO:0001819	synonymous_variant	6332	exon21			AAATGTTGCCTGT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3417A>C	2.37:g.167269629T>G		Somatic	367	0	0		WXS	Illumina HiSeq	Phase_I	328	137	0.417683	NM_002976		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																			T|0.945;G|0.055	0.055	strong		0.294	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			G	167269629	T	G	167269629	2	3	23	1	0	0	0	0	0	0	0	1	13923	1799	63	5		5	SCN7A	2	167269629	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6690	167269629	75929744	666	17122										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167313451	167313451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttcaatcttcttagataTttcaccaactctctgctttt	4	10	5	1	rs11888208	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167313451T>C	ENST00000409855.1	-	10	1345	c.1219A>G	c.(1219-1221)Ata>Gta	p.I407V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	407			I -> V (in dbSNP:rs11888208).		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTCTTAGATATTTCACCAACT	0.333													T|||	593	0.118411	0.177	0.0692	5008	,	,		5681	0.0208		0.1362	False		,,,				2504	0.1564				p.I407V		Atlas-SNP	.											.	SCN7A	410	.	0			c.A1219G						PASS	.	T	VAL/ILE	552,3072		45,462,1305	70	62	64		1219	3	0	2	dbSNP_120	64	1238,6908		100,1038,2935	yes	missense	SCN7A	NM_002976.3	29	145,1500,4240	CC,CT,TT		15.1976,15.2318,15.2082	benign	407/1683	167313451	1790,9980	1812	4073	5885	SO:0001583	missense	6332	exon10			TAGATATTTCACC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1219A>G	2.37:g.167313451T>C	ENSP00000386796:p.Ile407Val	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	185	76	0.410811	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	217	0.09935897435897435	74	0.15040650406504066	29	0.08011049723756906	12	0.02097902097902098	102	0.1345646437994723	T	12.48	1.952025	0.34471	0.152318	0.151976	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96554	-4.03;-4.05	5.35	3.01	0.34805	.	1.133800	0.06559	N	0.746436	T	0.06325	0.0163	N	0.22421	0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.09377	0.004	T	0.66035	-0.6023	9	0.72032	D	0.01	.	4.7931	0.13259	0.0:0.4109:0.0:0.5891	rs11888208;rs52816781;rs60443139;rs11888208	407	Q01118	SCN7A_HUMAN	V	407	ENSP00000386796:I407V;ENSP00000413699:I407V	ENSP00000259060:I407V	I	-	1	0	SCN7A	167021697	0.429000	0.25530	0.003000	0.11579	0.002000	0.02628	2.172000	0.42463	0.868000	0.35678	0.454000	0.30748	ATA	T|0.896;C|0.104	0.104	strong		0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			C	167313451	T	C	167313451	3	2	23	1	0	0	0	0	1	0	0	0	13923	1493	52	2	3893	2	SCN7A	2	167313451	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	43822	167313451	75885922	667	17123										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167319011	167319011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcaggatttatgccagctTttacacacacatatccttca	5	11	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:167319011T>A	ENST00000409855.1	-	9	1097	c.971A>T	c.(970-972)aAa>aTa	p.K324I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	324					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TATGCCAGCTTTTACACACAC	0.373																																					p.K324I		Atlas-SNP	.											.	SCN7A	410	.	0			c.A971T						PASS	.						71	63	66					2																	167319011		1845	4102	5947	SO:0001583	missense	6332	exon9			CCAGCTTTTACAC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.971A>T	2.37:g.167319011T>A	ENSP00000386796:p.Lys324Ile	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	112	59	0.526786	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598912	0.87055	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98717	-5.09;-5.09;-5.09	4.43	4.43	0.53597	Ion transport (1);	0.000000	0.52532	D	0.000071	D	0.99010	0.9662	M	0.83603	2.65	0.42436	D	0.992693	D	0.89917	1.0	D	0.91635	0.999	D	0.99839	1.1060	10	0.87932	D	0	.	12.8081	0.57626	0.0:0.0:0.0:1.0	.	324	Q01118	SCN7A_HUMAN	I	324	ENSP00000386796:K324I;ENSP00000413699:K324I;ENSP00000403846:K324I	ENSP00000259060:K324I	K	-	2	0	SCN7A	167027257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.043000	0.64208	1.747000	0.51819	0.477000	0.44152	AAA	.	.	none		0.373	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167319011	T	A	167319011	3	1	23	1	0	0	0	0	1	0	0	0	13923	1841	64	5	4145	5	SCN7A	2	167319011	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5560	167319011	75880362	668	17124										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168103304	168103304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggcagtctctggttgaacGtactgttagtgaaactgaca	11	7	1	3	rs16853309	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168103304G>A	ENST00000409195.1	+	9	5491	c.5402G>A	c.(5401-5403)cGt>cAt	p.R1801H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1579H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1801H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1626					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGGTTGAACGTACTGTTAGT	0.403													G|||	989	0.197484	0.3245	0.1311	5008	,	,		21072	0.12		0.1233	False		,,,				2504	0.229				p.R1801H		Atlas-SNP	.											.	XIRP2	914	.	0			c.G5402A						PASS	.	G	HIS/ARG,HIS/ARG,,,	1080,2776		156,768,1004	180	168	172		4736,5402,,,	2.8	1	2	dbSNP_123	172	921,7361		55,811,3275	yes	missense,missense,intron,intron,intron	XIRP2	NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1	29,29,,,	211,1579,4279	AA,AG,GG		11.1205,28.0083,16.4854	possibly-damaging,possibly-damaging,,,	1579/3328,1801/3550,,,	168103304	2001,10137	1928	4141	6069	SO:0001583	missense	129446	exon9			TTGAACGTACTGT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5402G>A	2.37:g.168103304G>A	ENSP00000386840:p.Arg1801His	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	191	83	0.434555	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	384	0.17582417582417584	170	0.34552845528455284	47	0.1298342541436464	72	0.1258741258741259	95	0.12532981530343007	G	10.60	1.396329	0.25205	0.280083	0.111205	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04502	3.61;3.61;3.61	5.59	2.84	0.33178	.	0.053822	0.85682	D	0.000000	T	0.00012	0.0000	M	0.74258	2.255	0.18873	P	0.999981003	P;P;P	0.41947	0.655;0.766;0.477	B;B;B	0.33121	0.076;0.158;0.081	T	0.49634	-0.8919	9	0.49607	T	0.09	-5.9326	9.9833	0.41826	0.2251:0.0:0.7749:0.0	rs16853309;rs52829936;rs16853309	1626;1626;1579	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	1801;1801;1579	ENSP00000386840:R1801H;ENSP00000295237:R1801H;ENSP00000387255:R1579H	ENSP00000295237:R1801H	R	+	2	0	XIRP2	167811550	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	2.750000	0.47500	0.740000	0.32651	-0.133000	0.14855	CGT	G|0.820;A|0.180	0.180	strong		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168103304	G	A	168103304	3	1	23	1	0	0	0	0	1	0	0	0	17427	1145	40	1	5432	1	XIRP2	2	168103304	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	784293	168103304	75096069	669	17125			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168103925	168103925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggaaatcttgccatggcaAtttagtagaagaaagaactg	12	5	1	3	rs7607246	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168103925A>G	ENST00000409195.1	+	9	6112	c.6023A>G	c.(6022-6024)aAt>aGt	p.N2008S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1786S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N2008S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1833					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCCATGGCAATTTAGTAGAA	0.453													A|||	865	0.172724	0.2882	0.1196	5008	,	,		18614	0.12		0.1123	False		,,,				2504	0.1708				p.N2008S		Atlas-SNP	.											.	XIRP2	914	.	0			c.A6023G						PASS	.	A	,,,SER/ASN,SER/ASN	965,2753		134,697,1028	49	46	47		,,,6023,5357	0.6	0	2	dbSNP_116	47	799,7383		42,715,3334	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,46,46	176,1412,4362	GG,GA,AA		9.7653,25.9548,14.8235	,,,benign,benign	,,,2008/3550,1786/3328	168103925	1764,10136	1859	4091	5950	SO:0001583	missense	129446	exon9			ATGGCAATTTAGT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6023A>G	2.37:g.168103925A>G	ENSP00000386840:p.Asn2008Ser	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	195	100	0.512821	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	353	0.16163003663003664	151	0.30691056910569103	42	0.11602209944751381	72	0.1258741258741259	88	0.11609498680738786	A	0.005	-2.172963	0.00312	0.259548	0.097653	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02280	4.36;4.36;4.37	5.31	0.559	0.17272	.	1.282890	0.04902	N	0.451569	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.42982	-0.9419	9	0.06365	T	0.9	-0.0303	1.6411	0.02753	0.3781:0.3315:0.1676:0.1227	rs7607246;rs57219008;rs7607246	1833;1833;1786	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2008;2008;1786	ENSP00000386840:N2008S;ENSP00000295237:N2008S;ENSP00000387255:N1786S	ENSP00000295237:N2008S	N	+	2	0	XIRP2	167812171	0.003000	0.15002	0.000000	0.03702	0.029000	0.11900	0.881000	0.28173	0.080000	0.16959	0.528000	0.53228	AAT	A|0.837;G|0.163	0.163	strong		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168103925	A	G	168103925	3	3	23	1	0	0	0	0	1	0	0	0	17427	101	4	2	6053	2	XIRP2	2	168103925	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	621	168103925	75095448	670	17126			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168104199	168104199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaacaactaaagaatcagaCagggcagtgagagagctgaa	11	7	1	5	rs7581190	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168104199C>T	ENST00000409195.1	+	9	6386	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D1877D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.D2099D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1924					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAATCAGACAGGGCAGTGA	0.383													C|||	865	0.172724	0.2882	0.1196	5008	,	,		18181	0.12		0.1123	False		,,,				2504	0.1708				p.D2099D		Atlas-SNP	.											.	XIRP2	914	.	0			c.C6297T						PASS	.	C	,,,,	971,2885		131,709,1088	56	52	53		,,5631,,6297	4.1	0.9	2	dbSNP_116	53	800,7504		42,716,3394	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	173,1425,4482	TT,TC,CC		9.6339,25.1815,14.5641	,,,,	,,1877/3328,,2099/3550	168104199	1771,10389	1928	4152	6080	SO:0001819	synonymous_variant	129446	exon9			ATCAGACAGGGCA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6297C>T	2.37:g.168104199C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	119	59	0.495798	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																			C|0.840;T|0.160	0.160	strong		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168104199	C	T	168104199	2	4	23	1	0	0	0	0	0	0	0	1	17427	477	17	2		2	XIRP2	2	168104199	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	274	168104199	75095174	671	17127			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168104370	168104370	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attaaaatattaactgatacAcaaagctccaagcccagtcc	4	11	0	1	rs61748715	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168104370A>C	ENST00000409195.1	+	9	6557	c.6468A>C	c.(6466-6468)acA>acC	p.T2156T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1934T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T2156T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1981	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAACTGATACACAAAGCTCCA	0.408													A|||	865	0.172724	0.2882	0.1196	5008	,	,		16320	0.12		0.1123	False		,,,				2504	0.1708				p.T2156T		Atlas-SNP	.											.	XIRP2	914	.	0			c.A6468C						PASS	.	A	,,,,	949,2749		133,683,1033	39	38	38		,,5802,,6468	-3.4	0	2	dbSNP_129	38	792,7392		43,706,3343	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	176,1389,4376	CC,CA,AA		9.6774,25.6625,14.6524	,,,,	,,1934/3328,,2156/3550	168104370	1741,10141	1849	4092	5941	SO:0001819	synonymous_variant	129446	exon9			TGATACACAAAGC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6468A>C	2.37:g.168104370A>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	80	42	0.525	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																			A|0.860;C|0.140	0.140	strong		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		C	168104370	A	C	168104370	2	2	23	1	0	0	0	0	0	0	0	1	17427	146	6	5		5	XIRP2	2	168104370	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	171	168104370	75095003	672	17128			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168104627	168104627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaggcaaccaacaaaaagcGggagactgatgttcacttga	10	8	1	3	rs61750760	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168104627G>A	ENST00000409195.1	+	9	6814	c.6725G>A	c.(6724-6726)cGg>cAg	p.R2242Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2020Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2242Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2067					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAAAAAGCGGGAGACTGAT	0.388													A|||	993	0.198283	0.3268	0.1326	5008	,	,		16388	0.12		0.1233	False		,,,				2504	0.229				p.R2242Q		Atlas-SNP	.											XIRP2,NS,carcinoma,+1,1	XIRP2	914	1	0			c.G6725A						PASS	.	A	,,,GLN/ARG,GLN/ARG	1051,2617		157,737,940	69	63	65		,,,6725,6059	5.3	1	2	dbSNP_129	65	919,7261		56,807,3227	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,43,43	213,1544,4167	AA,AG,GG		11.2347,28.6532,16.6273	,,,benign,benign	,,,2242/3550,2020/3328	168104627	1970,9878	1834	4090	5924	SO:0001583	missense	129446	exon9			AAAAGCGGGAGAC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6725G>A	2.37:g.168104627G>A	ENSP00000386840:p.Arg2242Gln	Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	223	110	0.493274	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	386	0.17673992673992675	172	0.34959349593495936	47	0.1298342541436464	72	0.1258741258741259	95	0.12532981530343007	A	0.882	-0.728533	0.03135	0.286532	0.112347	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02197	4.4;4.4;4.41	5.34	5.34	0.76211	.	0.706038	0.13958	N	0.351060	T	0.00012	0.0000	N	0.00138	-2.015	0.58432	P	2.9999999999752447E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37663	-0.9696	9	0.02654	T	1	-0.1717	10.4051	0.44252	0.9212:0.0:0.0788:0.0	rs61750760	2067;2067;2020	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2242;2242;2020	ENSP00000386840:R2242Q;ENSP00000295237:R2242Q;ENSP00000387255:R2020Q	ENSP00000295237:R2242Q	R	+	2	0	XIRP2	167812873	1.000000	0.71417	0.969000	0.41365	0.100000	0.18952	4.128000	0.57951	0.868000	0.35678	-0.254000	0.11334	CGG	G|0.842;A|0.158	0.158	strong		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168104627	G	A	168104627	3	1	23	1	0	0	0	0	1	0	0	0	17427	1116	39	1	6755	1	XIRP2	2	168104627	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	257	168104627	75094746	673	17129			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168104988	168104988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagagaaagttcatcgatGtttctgccgcctcctcctcc	8	13	2	1	rs59889092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168104988G>T	ENST00000409195.1	+	9	7175	c.7086G>T	c.(7084-7086)atG>atT	p.M2362I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M2140I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2362I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2187					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTCATCGATGTTTCTGCCGC	0.478													G|||	865	0.172724	0.2882	0.1196	5008	,	,		16686	0.12		0.1123	False		,,,				2504	0.1708				p.M2362I		Atlas-SNP	.											.	XIRP2	914	.	0			c.G7086T						PASS	.	G	,,ILE/MET,,ILE/MET	981,2963		132,717,1123	101	109	106		,,6420,,7086	-0.7	0	2	dbSNP_129	106	800,7498		42,716,3391	yes	intron,intron,missense,intron,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,10,,10	174,1433,4514	TT,TG,GG		9.6409,24.8732,14.5483	,,possibly-damaging,,possibly-damaging	,,2140/3328,,2362/3550	168104988	1781,10461	1972	4149	6121	SO:0001583	missense	129446	exon9			ATCGATGTTTCTG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7086G>T	2.37:g.168104988G>T	ENSP00000386840:p.Met2362Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	353	0.16163003663003664	151	0.30691056910569103	42	0.11602209944751381	72	0.1258741258741259	88	0.11609498680738786	G	7.688	0.690360	0.15039	0.248732	0.096409	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02258	4.37;4.37;4.37	5.95	-0.665	0.11403	.	1.224870	0.05371	N	0.535332	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B;B;B	0.19817	0.023;0.039;0.019	B;B;B	0.15870	0.006;0.014;0.003	T	0.46414	-0.9193	9	0.41790	T	0.15	2.8744	7.8749	0.29589	0.213:0.3739:0.4131:0.0	rs59889092;rs61750785	2187;2187;2140	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2362;2362;2140	ENSP00000386840:M2362I;ENSP00000295237:M2362I;ENSP00000387255:M2140I	ENSP00000295237:M2362I	M	+	3	0	XIRP2	167813234	0.001000	0.12720	0.000000	0.03702	0.344000	0.29017	0.038000	0.13862	-0.100000	0.12241	0.655000	0.94253	ATG	G|0.860;T|0.140	0.140	strong		0.478	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168104988	G	T	168104988	3	4	23	1	0	0	0	0	1	0	0	0	17427	1377	48	4	7116	4	XIRP2	2	168104988	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	361	168104988	75094385	674	17130			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168106085	168106085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attaaatgaaacagaccacaGctatgaaagtcataaacagc	6	8	1	3	rs16853328	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168106085G>A	ENST00000409195.1	+	9	8272	c.8183G>A	c.(8182-8184)aGc>aAc	p.S2728N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2506N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2728N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2553			G -> D (in dbSNP:rs3749002).		actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGACCACAGCTATGAAAGT	0.353													G|||	865	0.172724	0.2882	0.1196	5008	,	,		20459	0.12		0.1123	False		,,,				2504	0.1708				p.S2728N		Atlas-SNP	.											.	XIRP2	914	.	0			c.G8183A						PASS	.	G	,,,ASN/SER,ASN/SER	959,2729		131,697,1016	83	80	81		,,,8183,7517	0.5	0	2	dbSNP_123	81	796,7374		42,712,3331	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,46,46	173,1409,4347	AA,AG,GG		9.743,26.0033,14.8001	,,,benign,benign	,,,2728/3550,2506/3328	168106085	1755,10103	1844	4085	5929	SO:0001583	missense	129446	exon9			ACCACAGCTATGA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8183G>A	2.37:g.168106085G>A	ENSP00000386840:p.Ser2728Asn	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	143	61	0.426573	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	353	0.16163003663003664	151	0.30691056910569103	42	0.11602209944751381	72	0.1258741258741259	88	0.11609498680738786	G	4.989	0.183668	0.09495	0.260033	0.09743	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02812	4.16;4.16;4.15	6.07	0.503	0.16940	.	1.274170	0.04825	N	0.437620	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.48186	-0.9057	9	0.16420	T	0.52	0.7895	1.5737	0.02620	0.3016:0.1424:0.4114:0.1447	rs16853328;rs52831947;rs59277562;rs16853328	2553;2553;2506	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2728;2728;2506;142	ENSP00000386840:S2728N;ENSP00000295237:S2728N;ENSP00000387255:S2506N	ENSP00000295237:S2728N	S	+	2	0	XIRP2	167814331	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	0.218000	0.17622	0.145000	0.18977	-0.182000	0.12963	AGC	G|0.837;A|0.163	0.163	strong		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168106085	G	A	168106085	3	1	23	1	0	0	0	0	1	0	0	0	17427	971	34	2	8213	2	XIRP2	2	168106085	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1097	168106085	75093288	675	17131			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168106246	168106246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaggagaaaagagtgacaGtacaattgcctacagaatcc	10	7	0	5	rs16853330	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168106246G>A	ENST00000409195.1	+	9	8433	c.8344G>A	c.(8344-8346)Gta>Ata	p.V2782I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2560I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2782I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2607					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGTGACAGTACAATTGCC	0.408													A|||	1181	0.235823	0.3623	0.1686	5008	,	,		20362	0.2173		0.1282	False		,,,				2504	0.2423				p.V2782I		Atlas-SNP	.											XIRP2,NS,carcinoma,-1,1	XIRP2	914	1	0			c.G8344A						PASS	.	A	,,ILE/VAL,,ILE/VAL	1194,2546		201,792,877	62	59	60		,,7678,,8344	-5	0	2	dbSNP_123	60	926,7296		56,814,3241	yes	intron,intron,missense,intron,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,29,,29	257,1606,4118	AA,AG,GG		11.2625,31.9251,17.7228	,,possibly-damaging,,possibly-damaging	,,2560/3328,,2782/3550	168106246	2120,9842	1870	4111	5981	SO:0001583	missense	129446	exon9			GTGACAGTACAAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8344G>A	2.37:g.168106246G>A	ENSP00000386840:p.Val2782Ile	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	137	64	0.467153	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	480	0.21978021978021978	192	0.3902439024390244	52	0.143646408839779	136	0.23776223776223776	100	0.13192612137203166	A	0.029	-1.350948	0.01256	0.319251	0.112625	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02446	4.29;4.29;4.29	6.17	-5.01	0.02991	.	1.339210	0.04273	N	0.342418	T	0.00012	0.0000	N	0.02736	-0.51	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47849	-0.9085	9	0.05525	T	0.97	-0.4314	12.7259	0.57170	0.2092:0.2213:0.5694:0.0	rs16853330;rs52825904;rs61575660;rs16853330	2607;2607;2560	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2782;2782;2560;196	ENSP00000386840:V2782I;ENSP00000295237:V2782I;ENSP00000387255:V2560I	ENSP00000295237:V2782I	V	+	1	0	XIRP2	167814492	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.912000	0.04046	-1.340000	0.02227	-0.254000	0.11334	GTA	G|0.774;A|0.225	0.225	strong		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168106246	G	A	168106246	3	1	23	1	0	0	0	0	1	0	0	0	17427	1029	36	2	8374	2	XIRP2	2	168106246	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	161	168106246	75093127	676	17132			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168107155	168107155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacagtacagcaccaagtaGcagctcatcatgaagcaact	7	11	2	1	rs16853331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168107155G>A	ENST00000409195.1	+	9	9342	c.9253G>A	c.(9253-9255)Gca>Aca	p.A3085T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2863T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3085T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2910					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCACCAAGTAGCAGCTCATCA	0.368													G|||	993	0.198283	0.3268	0.1326	5008	,	,		18672	0.12		0.1233	False		,,,				2504	0.229				p.A3085T		Atlas-SNP	.											.	XIRP2	914	.	0			c.G9253A						PASS	.	G	,,,THR/ALA,THR/ALA	1072,2760		159,754,1003	83	80	81		,,,9253,8587	2	1	2	dbSNP_123	81	924,7338		56,812,3263	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,58,58	215,1566,4266	AA,AG,GG		11.1837,27.9749,16.5041	,,,benign,benign	,,,3085/3550,2863/3328	168107155	1996,10098	1916	4131	6047	SO:0001583	missense	129446	exon9			CAAGTAGCAGCTC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9253G>A	2.37:g.168107155G>A	ENSP00000386840:p.Ala3085Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	142	64	0.450704	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	386	0.17673992673992675	172	0.34959349593495936	47	0.1298342541436464	72	0.1258741258741259	95	0.12532981530343007	G	4.693	0.128944	0.08981	0.279749	0.111837	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02606	4.23;4.23;4.24	5.42	2.03	0.26663	.	0.951003	0.08851	N	0.884486	T	0.00012	0.0000	L	0.31294	0.92	0.43141	P	0.005102000000000051	B;B;B	0.23249	0.049;0.082;0.082	B;B;B	0.23419	0.021;0.046;0.046	T	0.42327	-0.9458	9	0.19590	T	0.45	-2.2472	9.2099	0.37311	0.2839:0.0:0.7161:0.0	rs16853331;rs52790539;rs16853331	2910;2910;2863	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3085;3085;2863;499	ENSP00000386840:A3085T;ENSP00000295237:A3085T;ENSP00000387255:A2863T	ENSP00000295237:A3085T	A	+	1	0	XIRP2	167815401	0.000000	0.05858	0.958000	0.39756	0.411000	0.31082	-0.255000	0.08769	0.188000	0.20168	0.557000	0.71058	GCA	G|0.816;A|0.184	0.184	strong		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168107155	G	A	168107155	3	1	23	1	0	0	0	0	1	0	0	0	17427	971	34	2	9283	2	XIRP2	2	168107155	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	909	168107155	75092218	677	17133			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168107491	168107491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaagttatccaaaggggccAtcccatgtccagcagcaacc	8	14	0	0	rs3749004	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168107491A>G	ENST00000409195.1	+	9	9678	c.9589A>G	c.(9589-9591)Atc>Gtc	p.I3197V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2975V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I3197V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3022					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGGGGCCATCCCATGTCC	0.473													A|||	992	0.198083	0.326	0.1326	5008	,	,		18868	0.12		0.1233	False		,,,				2504	0.229				p.I3197V		Atlas-SNP	.											.	XIRP2	914	.	0			c.A9589G						PASS	.	A	,,,VAL/ILE,VAL/ILE	1086,2824		160,766,1029	81	84	83		,,,9589,8923	-4.1	0	2	dbSNP_107	83	924,7380		56,812,3284	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,29,29	216,1578,4313	GG,GA,AA		11.1272,27.7749,16.4565	,,,benign,benign	,,,3197/3550,2975/3328	168107491	2010,10204	1955	4152	6107	SO:0001583	missense	129446	exon9			GGGGCCATCCCAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9589A>G	2.37:g.168107491A>G	ENSP00000386840:p.Ile3197Val	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	176	90	0.511364	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	386	0.17673992673992675	172	0.34959349593495936	47	0.1298342541436464	72	0.1258741258741259	95	0.12532981530343007	A	0.111	-1.138744	0.01742	0.277749	0.111272	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02631	4.22;4.22;4.22	5.45	-4.1	0.03940	.	1.015070	0.07871	N	0.967851	T	0.00012	0.0000	N	0.25144	0.715	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.46345	-0.9198	9	0.19590	T	0.45	-0.4673	4.6634	0.12653	0.6565:0.0998:0.146:0.0977	rs3749004;rs52810850;rs58049014;rs3749004	3022;3022;2975	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3197;3197;2975;611	ENSP00000386840:I3197V;ENSP00000295237:I3197V;ENSP00000387255:I2975V	ENSP00000295237:I3197V	I	+	1	0	XIRP2	167815737	0.000000	0.05858	0.001000	0.08648	0.776000	0.43924	0.291000	0.18994	-0.431000	0.07307	0.377000	0.23210	ATC	A|0.817;G|0.183	0.183	strong		0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168107491	A	G	168107491	3	3	23	1	0	0	0	0	1	0	0	0	17427	217	8	2	9619	2	XIRP2	2	168107491	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	336	168107491	75091882	678	17134			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168115158	168115158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgatgccagaaaatcataAagaaaatttgaataagaata	7	3	1	5			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168115158A>C	ENST00000409728.1	+	11	2290	c.2201A>C	c.(2200-2202)aAa>aCa	p.K734T	XIRP2_ENST00000409605.1_Missense_Mutation_p.K479T|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K701T|XIRP2_ENST00000409043.1_Missense_Mutation_p.K701T|XIRP2_ENST00000420519.1_Missense_Mutation_p.K734T|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAATCATAAAGAAAATTTG	0.294																																					p.K734T		Atlas-SNP	.											.	XIRP2	914	.	0			c.A2201C						PASS	.						28	27	27					2																	168115158		1807	4068	5875	SO:0001583	missense	129446	exon11			ATCATAAAGAAAA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2201A>C	2.37:g.168115158A>C	ENSP00000386619:p.Lys734Thr	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	85	37	0.435294	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463028	0.43736	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.82167	-1.54;-1.54;-1.54;-1.54;-1.58	5.61	3.21	0.36854	.	.	.	.	.	D	0.87597	0.6217	.	.	.	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62298	0.9;0.9	D	0.85431	0.1149	8	0.87932	D	0	.	5.8857	0.18880	0.7743:0.0:0.0791:0.1466	.	701;734	A4UGR9-4;A4UGR9-6	.;.	T	701;734;701;734;479	ENSP00000386454:K701T;ENSP00000386619:K734T;ENSP00000386724:K701T;ENSP00000415541:K734T;ENSP00000386981:K479T	ENSP00000386454:K701T	K	+	2	0	XIRP2	167823404	1.000000	0.71417	0.366000	0.25914	0.381000	0.30169	2.375000	0.44283	0.407000	0.25591	0.418000	0.28097	AAA	.	.	none		0.294	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		C	168115158	A	C	168115158	3	2	23	1	0	0	0	0	1	0	0	0	17427	14	1	5	11519	5	XIRP2	2	168115158	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7667	168115158	75084215	679	17135			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168115710	168115710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgttaaaccttggcatgTtgaaacaacagaagctgccc	10	9	0	2	rs3749006	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168115710T>G	ENST00000409728.1	+	11	2842	c.2753T>G	c.(2752-2754)gTt>gGt	p.V918G	XIRP2_ENST00000409605.1_Missense_Mutation_p.V663G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V885G|XIRP2_ENST00000409043.1_Missense_Mutation_p.V885G|XIRP2_ENST00000420519.1_Missense_Mutation_p.V918G|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V918G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTTGGCATGTTGAAACAACA	0.378													G|||	993	0.198283	0.3154	0.1297	5008	,	,		19526	0.1974		0.1143	False		,,,				2504	0.1759				p.V918G		Atlas-SNP	.											XIRP2_ENST00000409728,NS,carcinoma,0,1	XIRP2	914	1	1	Substitution - Missense(1)	stomach(1)	c.T2753G						PASS	.	G	GLY/VAL,GLY/VAL,,GLY/VAL,	1061,2691		155,751,970	94	86	88		2654,2753,,1988,	0.6	0	2	dbSNP_107	88	800,7418		42,716,3351	yes	missense,missense,utr-3,missense,utr-3	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	109,109,,109,	197,1467,4321	GG,GT,TT		9.7347,28.2783,15.5472	,,,,	885/939,918/972,,663/717,	168115710	1861,10109	1876	4109	5985	SO:0001583	missense	129446	exon11			GGCATGTTGAAAC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2753T>G	2.37:g.168115710T>G	ENSP00000386619:p.Val918Gly	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	92	33	0.358696	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	424	0.19413919413919414	175	0.3556910569105691	44	0.12154696132596685	115	0.20104895104895104	90	0.11873350923482849	G	1.293	-0.607143	0.03717	0.282783	0.097347	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.74526	-0.81;-0.85;-0.81;-0.85;-0.78	5.78	0.61	0.17580	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13791	-1.0496	7	0.02654	T	1	.	6.9138	0.24349	0.4555:0.0:0.4348:0.1097	rs3749006;rs52810449;rs58687090;rs3749006	885;918	A4UGR9-4;A4UGR9-6	.;.	G	885;918;885;918;663	ENSP00000386454:V885G;ENSP00000386619:V918G;ENSP00000386724:V885G;ENSP00000415541:V918G;ENSP00000386981:V663G	ENSP00000386454:V885G	V	+	2	0	XIRP2	167823956	0.001000	0.12720	0.001000	0.08648	0.253000	0.25986	-0.469000	0.06648	-0.148000	0.11234	-0.225000	0.12378	GTT	T|0.808;G|0.192	0.192	strong		0.378	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		G	168115710	T	G	168115710	3	3	23	1	0	0	0	0	1	0	0	0	17427	1725	60	5	12071	5	XIRP2	2	168115710	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	552	168115710	75083663	680	17136			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168115769	168115769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttgatgctctgagccatGaatgtacagctaagcctttg	10	8	1	3	rs16853344	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168115769G>C	ENST00000409728.1	+	11	2901	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	XIRP2_ENST00000409605.1_Missense_Mutation_p.E683Q|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E905Q|XIRP2_ENST00000409043.1_Missense_Mutation_p.E905Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.E938Q|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGAGCCATGAATGTACAGC	0.438													G|||	904	0.180511	0.3154	0.1239	5008	,	,		19064	0.12		0.1123	False		,,,				2504	0.1708				p.E938Q		Atlas-SNP	.											.	XIRP2	914	.	0			c.G2812C						PASS	.	G	GLN/GLU,GLN/GLU,,GLN/GLU,	1076,2764		155,766,999	91	84	86		2713,2812,,2047,	4	0	2	dbSNP_123	86	808,7474		43,722,3376	yes	missense,missense,utr-3,missense,utr-3	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	29,29,,29,	198,1488,4375	CC,CG,GG		9.7561,28.0208,15.542	,,,,	905/939,938/972,,683/717,	168115769	1884,10238	1920	4141	6061	SO:0001583	missense	129446	exon11			AGCCATGAATGTA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2812G>C	2.37:g.168115769G>C	ENSP00000386619:p.Glu938Gln	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	109	52	0.477064	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	378	0.17307692307692307	175	0.3556910569105691	43	0.11878453038674033	72	0.1258741258741259	88	0.11609498680738786	G	15.51	2.855789	0.51376	0.280208	0.097561	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78707	-1.19;-1.2;-1.19;-1.2;-1.19	5.91	3.97	0.46021	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P;P	0.43287	0.454;0.802	B;B	0.36719	0.117;0.231	T	0.22521	-1.0214	7	0.25751	T	0.34	.	5.0051	0.14284	0.0883:0.16:0.6078:0.1439	rs16853344;rs52807647;rs57534200;rs16853344	905;938	A4UGR9-4;A4UGR9-6	.;.	Q	905;938;905;938;683	ENSP00000386454:E905Q;ENSP00000386619:E938Q;ENSP00000386724:E905Q;ENSP00000415541:E938Q;ENSP00000386981:E683Q	ENSP00000386454:E905Q	E	+	1	0	XIRP2	167824015	0.033000	0.19621	0.004000	0.12327	0.148000	0.21650	1.778000	0.38614	1.466000	0.48025	0.650000	0.86243	GAA	G|0.841;C|0.159	0.159	strong		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		C	168115769	G	C	168115769	3	2	23	1	0	0	0	0	1	0	0	0	17427	1291	45	4	12130	4	XIRP2	2	168115769	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	59	168115769	75083604	681	17137			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
XIRP2	129446	hgsc.bcm.edu	37	chr2	168115797	168115797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctaagcctttgtttcccaGagtggaggtgcagtcagaac	12	9	1	2	rs75758327	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:168115797G>C	ENST00000409728.1	+	11	2929	c.2840G>C	c.(2839-2841)aGa>aCa	p.R947T	XIRP2_ENST00000409605.1_Missense_Mutation_p.R692T|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.R914T|XIRP2_ENST00000409043.1_Missense_Mutation_p.R914T|XIRP2_ENST00000420519.1_Missense_Mutation_p.R947T|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTTTCCCAGAGTGGAGGTG	0.448													G|||	466	0.0930511	0.1838	0.049	5008	,	,		18315	0.0129		0.0845	False		,,,				2504	0.093				p.R947T		Atlas-SNP	.											.	XIRP2	914	.	0			c.G2840C						PASS	.	G	THR/ARG,THR/ARG,,THR/ARG,	646,3228		53,540,1344	79	73	75		2741,2840,,2075,	-1.6	0	2	dbSNP_131	75	606,7688		26,554,3567	yes	missense,missense,utr-3,missense,utr-3	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	71,71,,71,	79,1094,4911	CC,CG,GG		7.3065,16.6753,10.2893	,,,,	914/939,947/972,,692/717,	168115797	1252,10916	1937	4147	6084	SO:0001583	missense	129446	exon11			TTCCCAGAGTGGA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2840G>C	2.37:g.168115797G>C	ENSP00000386619:p.Arg947Thr	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	111	56	0.504505	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	191	0.08745421245421245	88	0.17886178861788618	21	0.058011049723756904	14	0.024475524475524476	68	0.08970976253298153	G	13.02	2.113098	0.37339	0.166753	0.073065	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.7	-1.62	0.08372	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.80722	P	0.0	B;B	0.16802	0.004;0.019	B;B	0.15052	0.008;0.012	T	0.06023	-1.0850	7	0.54805	T	0.06	.	1.9647	0.03393	0.2847:0.2083:0.4003:0.1066	.	914;947	A4UGR9-4;A4UGR9-6	.;.	T	914;947;914;947;692	ENSP00000386454:R914T;ENSP00000386619:R947T;ENSP00000386724:R914T;ENSP00000415541:R947T;ENSP00000386981:R692T	ENSP00000386454:R914T	R	+	2	0	XIRP2	167824043	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.318000	0.19504	-0.318000	0.08665	0.650000	0.86243	AGA	G|0.922;C|0.078	0.078	strong		0.448	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		C	168115797	G	C	168115797	3	2	23	1	0	0	0	0	1	0	0	0	17427	942	33	4	12158	4	XIRP2	2	168115797	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28	168115797	75083576	682	17138			3	72		14	14	12494	N	T_G_C_A	1.413438e-07
G6PC2	57818	hgsc.bcm.edu	37	chr2	169764176	169764176	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttctcttcctgtttgcaGttggcttttacctgcttctt	6	11	3	0	rs492594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:169764176G>C	ENST00000375363.3	+	5	747	c.655G>C	c.(655-657)Gtt>Ctt	p.V219L	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	219			V -> L (in dbSNP:rs492594).		carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.V219L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CCTGTTTGCAGTTGGCTTTTA	0.527													C|||	2321	0.463458	0.3101	0.5634	5008	,	,		21028	0.4335		0.4443	False		,,,				2504	0.6503				p.V219L		Atlas-SNP	.											G6PC2,NS,carcinoma,0,1	G6PC2	44	1	1	Substitution - Missense(1)	stomach(1)	c.G655C						scavenged	.	C	,LEU/VAL	1416,2990	685.6+/-404.6	221,974,1008	216	171	186		,655	3.1	0.9	2	dbSNP_83	186	3923,4677	605.1+/-394.9	899,2125,1276	yes	utr-3,missense	G6PC2	NM_001081686.1,NM_021176.2	,32	1120,3099,2284	CC,CG,GG		45.6163,32.138,41.0503	,benign	,219/356	169764176	5339,7667	2203	4300	6503	SO:0001583	missense	57818	exon5			TTTGCAGTTGGCT	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.655G>C	2.37:g.169764176G>C	ENSP00000364512:p.Val219Leu	Somatic	485	3	0.00618557		WXS	Illumina HiSeq	Phase_I	412	178	0.432039	NM_021176	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	958	0.43864468864468864	166	0.33739837398373984	204	0.56353591160221	249	0.4353146853146853	339	0.4472295514511873	C	2.235	-0.375122	0.05034	0.32138	0.456163	ENSG00000152254	ENST00000375363	T	0.74315	-0.83	5.86	3.06	0.35304	.	0.500214	0.19206	N	0.120047	T	0.00012	0.0000	N	0.01656	-0.775	0.09310	P	0.9999999999999954	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	-19.5491	5.6207	0.17455	0.1171:0.6455:0.1129:0.1245	rs492594;rs3732032;rs52825832;rs492594	219	Q9NQR9	G6PC2_HUMAN	L	219	ENSP00000364512:V219L	ENSP00000364512:V219L	V	+	1	0	G6PC2	169472422	0.973000	0.33851	0.882000	0.34594	0.655000	0.38815	2.141000	0.42168	0.398000	0.25338	-0.824000	0.03097	GTT	G|0.584;C|0.416	0.416	strong		0.527	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		C	169764176	G	C	169764176	3	2	23	1	0	0	0	0	1	0	0	0	6144	1029	36	4	673	4	G6PC2	2	169764176	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1648379	169764176	73435197	683	17139										
DHRS9	10170	hgsc.bcm.edu	37	chr2	169952233	169952233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctttgcaagactttttaTtgttgaaacagaaagcagag	9	6	0	4	rs1059261	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:169952233T>C	ENST00000327239.4	+	8	2420	c.916T>C	c.(916-918)Ttg>Ctg	p.L306L	DHRS9_ENST00000412271.1_Silent_p.L306L|DHRS9_ENST00000357546.2_Silent_p.L306L|DHRS9_ENST00000421653.1_Silent_p.L159L|DHRS9_ENST00000428522.1_Silent_p.L306L|DHRS9_ENST00000602501.1_Silent_p.L306L|DHRS9_ENST00000432060.2_Silent_p.L366L|DHRS9_ENST00000436483.2_Silent_p.L306L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	306					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGACTTTTTATTGTTGAAACA	0.438													T|||	1376	0.27476	0.4221	0.2522	5008	,	,		20683	0.3214		0.1799	False		,,,				2504	0.1411				p.L306L		Atlas-SNP	.											.	DHRS9	29	.	0			c.T916C						PASS	.	T	,,,	1618,2788	501.5+/-365.0	296,1026,881	81	80	80		916,916,916,916	0.8	1	2	dbSNP_86	80	1728,6872	315.3+/-312.2	178,1372,2750	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DHRS9	NM_001142270.1,NM_001142271.1,NM_005771.4,NM_199204.1	,,,	474,2398,3631	CC,CT,TT		20.093,36.7227,25.7266	,,,	306/320,306/320,306/320,306/320	169952233	3346,9660	2203	4300	6503	SO:0001819	synonymous_variant	10170	exon8			TTTTTATTGTTGA	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.916T>C	2.37:g.169952233T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	162	74	0.45679	NM_005771	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	CCDS2231.1																																																																																			T|0.732;C|0.268	0.268	strong		0.438	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		C	169952233	T	C	169952233	2	2	23	1	0	0	0	0	0	0	0	1	4498	1490	52	2		2	DHRS9	2	169952233	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	188057	169952233	73247140	684	17140										
LRP2	4036	hgsc.bcm.edu	37	chr2	170070172	170070172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgacaaatacttactgcgtCtgtgataaacttgaagaccc	8	9	1	4	rs4667596	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170070172C>T	ENST00000263816.3	-	36	6320	c.6035G>A	c.(6034-6036)aGa>aAa	p.R2012K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2012			R -> K (in dbSNP:rs4667596).		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)"	CTTACTGCGTCTGTGATAAAC	0.398													C|||	135	0.0269569	0.0	0.0793	5008	,	,		18951	0.0536		0.0189	False		,,,				2504	0.0072				p.R2012K		Atlas-SNP	.											.	LRP2	751	.	0			c.G6035A						PASS	.	C	LYS/ARG	16,4390	23.3+/-48.9	0,16,2187	134	132	132		6035	2.2	0.7	2	dbSNP_111	132	175,8425	80.4+/-143.0	1,173,4126	yes	missense	LRP2	NM_004525.2	26	1,189,6313	TT,TC,CC		2.0349,0.3631,1.4686	benign	2012/4656	170070172	191,12815	2203	4300	6503	SO:0001583	missense	4036	exon36			CTGCGTCTGTGAT		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.6035G>A	2.37:g.170070172C>T	ENSP00000263816:p.Arg2012Lys	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	186	81	0.435484	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	83	0.038003663003663	0	0.0	20	0.055248618784530384	47	0.08216783216783216	16	0.021108179419525065	C	11.76	1.735572	0.30774	0.003631	0.020349	ENSG00000081479	ENST00000263816	D	0.90788	-2.73	5.96	2.19	0.27852	Six-bladed beta-propeller, TolB-like (1);	0.205916	0.48767	N	0.000163	T	0.25005	0.0607	L	0.41906	1.305	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.56896	-0.7903	10	0.05351	T	0.99	.	10.6121	0.45427	0.0:0.7417:0.0:0.2583	rs4667596;rs17848167;rs52819452;rs4667596	2012	P98164	LRP2_HUMAN	K	2012	ENSP00000263816:R2012K	ENSP00000263816:R2012K	R	-	2	0	LRP2	169778418	1.000000	0.71417	0.654000	0.29608	0.973000	0.67179	2.600000	0.46240	0.128000	0.18479	0.650000	0.86243	AGA	C|0.980;T|0.020	0.020	strong		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170070172	C	T	170070172	3	4	23	1	0	0	0	0	1	0	0	0	8956	913	32	2	8108	2	LRP2	2	170070172	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	117939	170070172	73129201	685	17141										
LRP2	4036	hgsc.bcm.edu	37	chr2	170088351	170088351	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaaggcacatggattcacGgctgcatgagaaagagaaga	13	6	1	3	rs2302694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170088351G>A	ENST00000263816.3	-	31	5385	c.5100C>T	c.(5098-5100)tcC>tcT	p.S1700S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1700	EGF-like 7. {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)"	ATGGATTCACGGCTGCATGAG	0.488													G|||	920	0.183706	0.4228	0.1931	5008	,	,		19030	0.0526		0.1093	False		,,,				2504	0.0654				p.S1700S		Atlas-SNP	.											.	LRP2	751	.	0			c.C5100T						PASS	.	G		1684,2722	509.1+/-367.1	321,1042,840	49	54	52		5100	-1.4	0	2	dbSNP_100	52	969,7631	209.8+/-250.9	68,833,3399	yes	coding-synonymous-near-splice	LRP2	NM_004525.2		389,1875,4239	AA,AG,GG		11.2674,38.2206,20.3983		1700/4656	170088351	2653,10353	2203	4300	6503	SO:0001630	splice_region_variant	4036	exon31			ATTCACGGCTGCA		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.5099-1C>T	2.37:g.170088351G>A		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	212	96	0.45283	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			G|0.806;A|0.194	0.194	strong		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Silent	A	170088351	G	A	170088351	5	1	23	1	0	0	0	0	0	0	1	0	8956	1130	39	1	9063	1	LRP2	2	170088351	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18179	170088351	73111022	686	17142										
LRP2	4036	hgsc.bcm.edu	37	chr2	170163816	170163816	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattctcatcagctccatcGgggcagtctctgacgtggtc	10	13	4	1	rs34104660	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170163816G>T	ENST00000263816.3	-	4	687	c.402C>A	c.(400-402)ccC>ccA	p.P134P	LRP2_ENST00000443831.1_Silent_p.P134P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	134	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	CAGCTCCATCGGGGCAGTCTC	0.453													T|||	238	0.047524	0.0666	0.0476	5008	,	,		18149	0.0		0.0815	False		,,,				2504	0.0358				p.P134P		Atlas-SNP	.											.	LRP2	751	.	0			c.C402A						PASS	.	T		264,4142	802.7+/-415.7	6,252,1945	150	112	125		402	-10.5	0	2	dbSNP_126	125	688,7912	788.3+/-407.6	33,622,3645	no	coding-synonymous	LRP2	NM_004525.2		39,874,5590	TT,TG,GG		8.0,5.9918,7.3197		134/4656	170163816	952,12054	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon4			TCCATCGGGGCAG		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.402C>A	2.37:g.170163816G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	103	44	0.427184	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			G|0.934;T|0.066	0.066	strong		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170163816	G	T	170163816	2	4	23	1	0	0	0	0	0	0	0	1	8956	1103	39	4		4	LRP2	2	170163816	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	75465	170163816	73035557	687	17143										
PPIG	9360	hgsc.bcm.edu	37	chr2	170493103	170493103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagaaattcagaaaaagaTgacaagtataaaaacaaagt	7	3	1	5	rs1050354	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170493103T>A	ENST00000260970.3	+	14	1555	c.1335T>A	c.(1333-1335)gaT>gaA	p.D445E	PPIG_ENST00000409714.3_Missense_Mutation_p.D430E|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.D445E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	445			D -> E (in dbSNP:rs1050354).		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)	p.D445E(1)		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)	CAGAAAAAGATGACAAGTATA	0.308													T|||	2926	0.584265	0.7595	0.4625	5008	,	,		17437	0.4296		0.5378	False		,,,				2504	0.6411				p.D445E		Atlas-SNP	.											PPIG,NS,carcinoma,0,1	PPIG	100	1	1	Substitution - Missense(1)	stomach(1)	c.T1335A						PASS	.	T	GLU/ASP	3169,1203		1168,833,185	46	48	47		1335	4.7	1	2	dbSNP_86	47	4842,3698		1368,2106,796	yes	missense	PPIG	NM_004792.2	45	2536,2939,981	AA,AT,TT		43.3021,27.516,37.9569	benign	445/755	170493103	8011,4901	2186	4270	6456	SO:0001583	missense	9360	exon14			AAAAGATGACAAG	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.1335T>A	2.37:g.170493103T>A	ENSP00000260970:p.Asp445Glu	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	150	67	0.446667	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	1192	0.5457875457875457	350	0.7113821138211383	185	0.511049723756906	244	0.42657342657342656	413	0.5448548812664907	T	7.359	0.624371	0.14193	0.72484	0.566979	ENSG00000138398	ENST00000260970;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.21191	2.52;2.02;2.52;2.52	5.92	4.74	0.60224	.	0.101452	0.64402	D	0.000002	T	0.00012	0.0000	N	0.14661	0.345	0.29169	P	0.877258	B;B;B	0.17038	0.0;0.02;0.02	B;B;B	0.12156	0.001;0.007;0.007	T	0.17137	-1.0379	9	0.17369	T	0.5	-9.5082	10.0708	0.42332	0.3831:0.0:0.0:0.6169	rs1050354;rs3190651;rs17621662;rs52823176;rs1050354	438;430;445	C9JM79;E9PG73;Q13427	.;.;PPIG_HUMAN	E	445;438;430;445	ENSP00000260970:D445E;ENSP00000408683:D438E;ENSP00000386245:D430E;ENSP00000407083:D445E	ENSP00000260970:D445E	D	+	3	2	PPIG	170201349	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.739000	0.26173	1.028000	0.39785	0.533000	0.62120	GAT	A|0.574;N|0.000	0.574	strong		0.308	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			A	170493103	T	A	170493103	3	1	23	1	0	0	0	0	1	0	0	0	12324	1461	51	5	1381	5	PPIG	2	170493103	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	329287	170493103	72706270	688	17144										
PPIG	9360	hgsc.bcm.edu	37	chr2	170493863	170493863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaaacaaagcagtcaggacAatgaattaaagtcctccatg	7	8	1	1	rs8207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170493863A>G	ENST00000260970.3	+	14	2315	c.2095A>G	c.(2095-2097)Aat>Gat	p.N699D	PPIG_ENST00000409714.3_Missense_Mutation_p.N684D|PPIG_ENST00000448752.2_Missense_Mutation_p.N699D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	699			N -> D (in dbSNP:rs8207). {ECO:0000269|PubMed:17525332, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:8973360, ECO:0000269|PubMed:9153302}.		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)	CAGTCAGGACAATGAATTAAA	0.353													A|||	997	0.199081	0.27	0.1542	5008	,	,		18742	0.0496		0.2545	False		,,,				2504	0.2321				p.N699D		Atlas-SNP	.											.	PPIG	100	.	0			c.A2095G	GRCh37	CM063067	PPIG	M	rs8207	PASS	.	A	ASP/ASN	1184,3222	394.2+/-329.2	165,854,1184	40	42	41		2095	4.6	1	2	dbSNP_52	41	2331,6265	378.6+/-339.0	308,1715,2275	yes	missense	PPIG	NM_004792.2	23	473,2569,3459	GG,GA,AA		27.1173,26.8724,27.0343	benign	699/755	170493863	3515,9487	2203	4298	6501	SO:0001583	missense	9360	exon14			CAGGACAATGAAT	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.2095A>G	2.37:g.170493863A>G	ENSP00000260970:p.Asn699Asp	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	108	48	0.444444	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	406	0.1858974358974359	135	0.27439024390243905	60	0.16574585635359115	25	0.043706293706293704	186	0.24538258575197888	A	9.312	1.055840	0.19907	0.268724	0.271173	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15372	2.43;2.43;2.43	5.73	4.58	0.56647	.	0.395778	0.25081	N	0.033292	T	0.00012	0.0000	N	0.08118	0	0.37290	P	0.09177100000000005	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.12156	0.007;0.007;0.007	T	0.37641	-0.9697	9	0.62326	D	0.03	-14.0533	7.7959	0.29148	0.7919:0.1382:0.0699:0.0	rs8207;rs3190677;rs16841658;rs52808986;rs58499481;rs8207	684;684;699	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	D	699;684;699	ENSP00000260970:N699D;ENSP00000386245:N684D;ENSP00000407083:N699D	ENSP00000260970:N699D	N	+	1	0	PPIG	170202109	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	2.242000	0.43106	0.998000	0.38996	-0.605000	0.04089	AAT	A|0.765;G|0.235	0.235	strong		0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493863	A	G	170493863	3	3	23	1	0	0	0	0	1	0	0	0	12324	130	5	2	2141	2	PPIG	2	170493863	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	760	170493863	72705510	689	17145										
KLHL23	151230	hgsc.bcm.edu	37	chr2	170606041	170606041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgaatggagagagatagcTcccatgatggaaaggaggat	14	4	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:170606041T>C	ENST00000392647.2	+	4	1720	c.1476T>C	c.(1474-1476)gcT>gcC	p.A492A	KLHL23_ENST00000272797.4_Silent_p.A492A|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	492										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GAGAGATAGCTCCCATGATGG	0.443																																					p.A492A		Atlas-SNP	.											KLHL23,colon,carcinoma,+2,1	KLHL23	52	1	0			c.T1476C						scavenged	.						144	129	134					2																	170606041		2203	4300	6503	SO:0001819	synonymous_variant	151230	exon4			GATAGCTCCCATG	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1476T>C	2.37:g.170606041T>C		Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	264	4	0.0151515	NM_144711	Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	CCDS2236.1																																																																																			.	.	none		0.443	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		C	170606041	T	C	170606041	2	2	23	1	0	0	0	0	0	0	0	1	8378	1538	54	3		3	KLHL23	2	170606041	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	112178	170606041	72593332	690	17146										
MYO3B	140469	hgsc.bcm.edu	37	chr2	171240249	171240249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttatcatggggtgaaacgCgcctccaatcccccccacat	7	16	1	1	rs11675394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:171240249C>T	ENST00000408978.4	+	12	1358	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.R405R|MYO3B_ENST00000334231.6_Silent_p.R414R	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	405	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S397_A406del(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGTGAAACGCGCCTCCAATC	0.453													C|||	1079	0.215455	0.0303	0.2493	5008	,	,		20601	0.2887		0.325	False		,,,				2504	0.2536				p.R405R		Atlas-SNP	.											MYO3B_ENST00000408978,rectum,carcinoma,0,6	MYO3B	320	6	1	Deletion - In frame(1)	ovary(1)	c.C1215T						PASS	.	C	,,	327,3487		13,301,1593	120	112	114		1215,1215,1215	-2.5	1	2	dbSNP_120	114	2679,5543		437,1805,1869	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	,,	450,2106,3462	TT,TC,CC		32.5833,8.5737,24.9751	,,	405/1315,405/1276,405/1342	171240249	3006,9030	1907	4111	6018	SO:0001819	synonymous_variant	140469	exon12			GAAACGCGCCTCC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1215C>T	2.37:g.171240249C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	102	100	0.980392	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																			C|0.732;T|0.268	0.268	strong		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			T	171240249	C	T	171240249	2	4	23	1	0	0	0	0	0	0	0	1	10077	755	27	1		1	MYO3B	2	171240249	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	634208	171240249	71959124	691	17147										
MYO3B	140469	hgsc.bcm.edu	37	chr2	171400449	171400449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttctcggatatgccatccTgctccagatcagcaaggatt	8	12	3	1	rs56181206	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:171400449T>C	ENST00000408978.4	+	32	3827	c.3684T>C	c.(3682-3684)ccT>ccC	p.P1228P	MYO3B_ENST00000334231.6_Silent_p.P1237P|MYO3B_ENST00000409044.3_Silent_p.P1201P|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1228					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TATGCCATCCTGCTCCAGATC	0.448													T|||	46	0.0091853	0.0008	0.013	5008	,	,		19158	0.0		0.0338	False		,,,				2504	0.002				p.P1228P		Atlas-SNP	.											.	MYO3B	320	.	0			c.T3684C						PASS	.	T	,PRO/LEU,	23,3669		0,23,1823	111	102	105		3603,3806,3684	4.3	0.8	2	dbSNP_129	105	243,7943		4,235,3854	yes	coding-synonymous,missense,coding-synonymous	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	,98,	4,258,5677	CC,CT,TT		2.9685,0.623,2.2394	,,	1201/1315,1269/1276,1228/1342	171400449	266,11612	1846	4093	5939	SO:0001819	synonymous_variant	140469	exon32			CCATCCTGCTCCA		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3684T>C	2.37:g.171400449T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	108	56	0.518519	NM_138995	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																			T|0.981;C|0.019	0.019	strong		0.448	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			C	171400449	T	C	171400449	2	2	23	1	0	0	0	0	0	0	0	1	10077	1580	55	3		3	MYO3B	2	171400449	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	160200	171400449	71798924	692	17148										
ITGA6	3655	hgsc.bcm.edu	37	chr2	173339808	173339808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagattctatgtttggcattGcagtaaaaaatattggagat	9	3	1	2	rs11895564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:173339808G>A	ENST00000264106.6	+	8	1458	c.1255G>A	c.(1255-1257)Gca>Aca	p.A419T	ITGA6_ENST00000264107.7_Missense_Mutation_p.A380T|ITGA6_ENST00000409080.1_Missense_Mutation_p.A380T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A375T|ITGA6_ENST00000409532.1_Missense_Mutation_p.A261T|ITGA6_ENST00000375221.2_Missense_Mutation_p.A419T			P23229	ITA6_HUMAN	integrin, alpha 6	419				A -> T (in Ref. 4; BAG59130 and 7; AAI36456/AAI36457). {ECO:0000305}.	amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTTTGGCATTGCAGTAAAAAA	0.333													G|||	1260	0.251597	0.3253	0.2248	5008	,	,		18864	0.0933		0.2793	False		,,,				2504	0.3057				p.A380T		Atlas-SNP	.											ITGA6,NS,NS,-1,1	ITGA6	171	1	0			c.G1138A						PASS	.	G	THR/ALA,THR/ALA	1505,2901	477.4+/-357.9	250,1005,948	78	79	78		1138,1138	4.5	1	2	dbSNP_120	78	2560,6040	415.9+/-351.9	370,1820,2110	yes	missense,missense	ITGA6	NM_000210.2,NM_001079818.1	58,58	620,2825,3058	AA,AG,GG		29.7674,34.158,31.2548	benign,benign	380/1074,380/1092	173339808	4065,8941	2203	4300	6503	SO:0001583	missense	3655	exon7			GGCATTGCAGTAA		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1255G>A	2.37:g.173339808G>A	ENSP00000264106:p.Ala419Thr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	150	74	0.493333	NM_001079818	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		524	0.23992673992673993	164	0.3333333333333333	97	0.26795580110497236	53	0.09265734265734266	210	0.2770448548812665	G	20.9	4.068903	0.76301	0.34158	0.297674	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.35	4.46	0.54185	.	0.160749	0.56097	D	0.000036	T	0.00012	0.0000	L	0.56396	1.775	0.19775	P	0.9999532777	P;B;P;P	0.45428	0.571;0.042;0.858;0.858	B;B;P;P	0.58172	0.389;0.133;0.834;0.746	T	0.01413	-1.1361	8	.	.	.	.	13.3506	0.60599	0.0:0.0:0.7145:0.2855	rs11895564;rs52804239;rs61334157;rs11895564	375;419;380;380	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	261;380;419;419;375;380;419;375	ENSP00000386614:A261T;ENSP00000264107:A380T;ENSP00000264106:A419T;ENSP00000364369:A419T;ENSP00000341078:A375T;ENSP00000386896:A380T;ENSP00000406694:A419T;ENSP00000394169:A375T	.	A	+	1	0	ITGA6	173048054	1.000000	0.71417	0.967000	0.41034	0.946000	0.59487	3.120000	0.50430	1.225000	0.43566	0.650000	0.86243	GCA	G|0.714;A|0.286	0.286	strong		0.333	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173339808	G	A	173339808	3	1	23	1	0	0	0	0	1	0	0	0	7880	1319	46	2	1164	2	ITGA6	2	173339808	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1939359	173339808	69859565	693	17149										
ZAK	51776	hgsc.bcm.edu	37	chr2	174055646	174055646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatagctgctgatggagtaTtgaaggtaggactatttctt	11	4	1	2	rs35853276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:174055646T>C	ENST00000375213.3	+	6	517	c.439T>C	c.(439-441)Ttg>Ctg	p.L147L	MLTK_ENST00000539448.1_Silent_p.L147L|MLTK_ENST00000409176.2_Silent_p.L147L|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Silent_p.L147L|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000431503.2_Silent_p.L46L|MLK7-AS1_ENST00000419609.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TGATGGAGTATTGAAGGTAGG	0.269													T|||	715	0.142772	0.3071	0.0821	5008	,	,		19235	0.0		0.1103	False		,,,				2504	0.1442				p.L147L		Atlas-SNP	.											.	ZAK	62	.	0			c.T439C						PASS	.	T	,	1068,3338	368.3+/-318.6	120,828,1255	67	76	73		439,439	-0.3	0.8	2	dbSNP_126	73	874,7720	195.1+/-240.3	49,776,3472	no	coding-synonymous,coding-synonymous	ZAK	NM_016653.2,NM_133646.2	,	169,1604,4727	CC,CT,TT		10.1699,24.2397,14.9385	,	147/801,147/456	174055646	1942,11058	2203	4297	6500	SO:0001819	synonymous_variant	0	exon6			GGAGTATTGAAGG																												ENST00000375213.3:c.439T>C	2.37:g.174055646T>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	65	35	0.538462	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	CCDS42777.1																																																																																			T|0.858;C|0.142	0.142	strong		0.269	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			C	174055646	T	C	174055646	2	2	23	1	0	0	0	0	0	0	0	1	17509	1490	52	2		2	ZAK	2	174055646	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	715838	174055646	69143727	694	17150										
ZAK	51776	hgsc.bcm.edu	37	chr2	174128513	174128513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcactaaacatgtccattCgattcagtggagtagaacaa	8	8	1	1	rs3769148	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:174128513C>T	ENST00000375213.3	+	19	1670	c.1592C>T	c.(1591-1593)tCg>tTg	p.S531L	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S531L|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		531			S -> L (in dbSNP:rs3769148). {ECO:0000269|PubMed:10924358, ECO:0000269|PubMed:11042189, ECO:0000269|PubMed:11836244, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.6}.		activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CATGTCCATTCGATTCAGTGG	0.378													C|||	1229	0.245407	0.0219	0.2867	5008	,	,		20916	0.2123		0.4831	False		,,,				2504	0.3078				p.S531L		Atlas-SNP	.											.	ZAK	62	.	0			c.C1592T						PASS	.	C	LEU/SER	354,3406		19,316,1545	119	105	109		1592	0.3	0	2	dbSNP_107	109	4058,4184		1005,2048,1068	yes	missense	ZAK	NM_016653.2	145	1024,2364,2613	TT,TC,CC		49.2356,9.4149,36.7605	benign	531/801	174128513	4412,7590	1880	4121	6001	SO:0001583	missense	0	exon19			TCCATTCGATTCA																												ENST00000375213.3:c.1592C>T	2.37:g.174128513C>T	ENSP00000364361:p.Ser531Leu	Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	121	119	0.983471	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	615	0.2815934065934066	13	0.026422764227642278	111	0.30662983425414364	122	0.21328671328671328	369	0.4868073878627968	C	7.512	0.654931	0.14580	0.094149	0.492356	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.75938	-0.98;-0.98	5.74	0.342	0.15996	.	0.899151	0.09761	N	0.759278	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.40776	-0.9545	9	0.25106	T	0.35	.	2.4273	0.04462	0.1168:0.4507:0.2271:0.2054	rs3769148;rs17692053;rs52801304;rs61527137;rs3769148	531	Q9NYL2	MLTK_HUMAN	L	531	ENSP00000387259:S531L;ENSP00000364361:S531L	ENSP00000364361:S531L	S	+	2	0	AC013461.1	173836759	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.555000	0.23422	-0.223000	0.09943	-0.176000	0.13171	TCG	C|0.702;T|0.298	0.298	strong		0.378	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			T	174128513	C	T	174128513	3	4	23	1	0	0	0	0	1	0	0	0	17509	893	31	1	2047	1	ZAK	2	174128513	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	72867	174128513	69070860	695	17151										
OLA1	29789	hgsc.bcm.edu	37	chr2	174946760	174946760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaccaaagcacctgggtcaTacttgtccacccactcttta	6	14	2	1	rs11558990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:174946760T>C	ENST00000409546.1	-	8	1451	c.821A>G	c.(820-822)tAt>tGt	p.Y274C	OLA1_ENST00000284719.3_Missense_Mutation_p.Y254C|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000344357.5_Missense_Mutation_p.Y96C					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ACCTGGGTCATACTTGTCCAC	0.418													T|||	482	0.096246	0.0703	0.1254	5008	,	,		16705	0.0159		0.1998	False		,,,				2504	0.0869				p.Y254C		Atlas-SNP	.											.	OLA1	37	.	0			c.A761G						PASS	.	T	CYS/TYR,CYS/TYR	426,3980	209.8+/-230.5	23,380,1800	103	99	101		287,761	3.1	1	2	dbSNP_120	101	1753,6845	319.0+/-313.9	198,1357,2744	yes	missense,missense	OLA1	NM_001011708.1,NM_013341.3	194,194	221,1737,4544	CC,CT,TT		20.3885,9.6686,16.7564	benign,benign	96/239,254/397	174946760	2179,10825	2203	4299	6502	SO:0001583	missense	29789	exon8			GGGTCATACTTGT		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.821A>G	2.37:g.174946760T>C	ENSP00000386350:p.Tyr274Cys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_013341		Missense_Mutation	SNP	ENST00000409546.1	37		253	0.11584249084249085	39	0.07926829268292683	56	0.15469613259668508	10	0.017482517482517484	148	0.19525065963060687	T	8.292	0.817935	0.16607	0.096686	0.203885	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546;ENST00000429575	T;T	0.43294	0.95;0.95	5.58	3.11	0.35812	.	0.110120	0.64402	D	0.000010	T	0.00039	0.0001	L	0.27053	0.805	0.28177	P	0.9283201	B;P	0.36010	0.445;0.532	B;B	0.40134	0.32;0.06	T	0.11470	-1.0586	9	0.56958	D	0.05	.	12.6576	0.56795	0.0:0.0:0.2598:0.7402	rs11558990	96;254	Q9NTK5-2;Q9NTK5	.;OLA1_HUMAN	C	254;96;274;96	ENSP00000284719:Y254C;ENSP00000386350:Y274C	ENSP00000284719:Y254C	Y	-	2	0	OLA1	174655006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.888000	0.48594	0.360000	0.24265	0.533000	0.62120	TAT	T|0.841;C|0.159	0.159	strong		0.418	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		C	174946760	T	C	174946760	3	2	23	1	0	0	0	0	1	0	0	0	10850	1406	49	2	445	2	OLA1	2	174946760	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	818247	174946760	68252613	696	17152										
SCRN3	79634	hgsc.bcm.edu	37	chr2	175289259	175289259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcacaactattggataccaGttcaccaacatttgaacttg	5	10	2	1	rs41270195	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:175289259G>T	ENST00000272732.6	+	7	1056	c.974G>T	c.(973-975)aGt>aTt	p.S325I	SCRN3_ENST00000409673.3_Missense_Mutation_p.S318I|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	325							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTGGATACCAGTTCACCAACA	0.313													G|||	53	0.0105831	0.0	0.0115	5008	,	,		19014	0.0		0.0408	False		,,,				2504	0.0041				p.S325I		Atlas-SNP	.											.	SCRN3	76	.	0			c.G974T						PASS	.	G	ILE/SER,ILE/SER	42,4364	46.7+/-81.2	0,42,2161	71	67	68		953,974	-0.7	0.3	2	dbSNP_127	68	376,8224	122.7+/-181.7	8,360,3932	yes	missense,missense	SCRN3	NM_001193528.1,NM_024583.4	142,142	8,402,6093	TT,TG,GG		4.3721,0.9532,3.2139	benign,benign	318/418,325/425	175289259	418,12588	2203	4300	6503	SO:0001583	missense	79634	exon7			ATACCAGTTCACC	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.974G>T	2.37:g.175289259G>T	ENSP00000272732:p.Ser325Ile	Somatic	319	0	0		WXS	Illumina HiSeq	Phase_I	271	148	0.546125	NM_024583	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	34	0.015567765567765568	0	0.0	5	0.013812154696132596	0	0.0	29	0.03825857519788918	G	3.398	-0.122847	0.06795	0.009532	0.043721	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08546	3.08;3.08	4.91	-0.677	0.11357	.	0.409489	0.27253	N	0.020212	T	0.00936	0.0031	L	0.31294	0.92	0.09310	N	1	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.002	T	0.34650	-0.9820	10	0.35671	T	0.21	-2.0764	1.0261	0.01528	0.2119:0.2024:0.3628:0.2229	rs41270195	318;325	B4DI11;Q0VDG4	.;SCRN3_HUMAN	I	318;325	ENSP00000387142:S318I;ENSP00000272732:S325I	ENSP00000272732:S325I	S	+	2	0	SCRN3	174997505	0.000000	0.05858	0.267000	0.24556	0.187000	0.23431	0.068000	0.14531	0.103000	0.17682	-0.266000	0.10368	AGT	G|0.971;T|0.029	0.029	strong		0.313	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		T	175289259	G	T	175289259	3	4	23	1	0	0	0	0	1	0	0	0	13940	1029	36	4	996	4	SCRN3	2	175289259	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	342499	175289259	67910114	697	17153										
CHRNA1	1134	hgsc.bcm.edu	37	chr2	175614716	175614716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatgggtgctgggtgagcgGtggtgtgtgttgatgacgat	19	4	0	3	rs2229957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:175614716G>A	ENST00000261007.5	-	8	1101	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	CHRNA1_ENST00000348749.5_Silent_p.H320H|CHRNA1_ENST00000409219.1_Silent_p.H320H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.H238H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	345					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGGGTGAGCGGTGGTGTGTGT	0.562													G|||	614	0.122604	0.1808	0.0519	5008	,	,		18200	0.0565		0.0706	False		,,,				2504	0.2157				p.H345H		Atlas-SNP	.											.	CHRNA1	92	.	0			c.C1035T						PASS	.	G	,	697,3709	291.3+/-281.4	56,585,1562	189	145	160		960,1035	5.4	1	2	dbSNP_98	160	569,8031	154.3+/-208.6	15,539,3746	no	coding-synonymous,coding-synonymous	CHRNA1	NM_000079.3,NM_001039523.2	,	71,1124,5308	AA,AG,GG		6.6163,15.8193,9.734	,	320/458,345/483	175614716	1266,11740	2203	4300	6503	SO:0001819	synonymous_variant	1134	exon8			TGAGCGGTGGTGT	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1035C>T	2.37:g.175614716G>A		Somatic	280	1	0.00357143		WXS	Illumina HiSeq	Phase_I	228	110	0.482456	NM_001039523	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																			T|0.025;G|0.730;C|0.169;A|0.077	0.077	strong		0.562	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			A	175614716	G	A	175614716	2	1	23	1	0	0	0	0	0	0	0	1	3381	1252	44	2		2	CHRNA1	2	175614716	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	325457	175614716	67584657	698	17154										
HOXD10	3236	hgsc.bcm.edu	37	chr2	176982173	176982173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaagaagatgaacgagccCgtgagcggccaggagcccac	14	11	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:176982173C>T	ENST00000249501.4	+	1	867	c.612C>T	c.(610-612)ccC>ccT	p.P204P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	204					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGAACGAGCCCGTGAGCGGCC	0.647																																					p.P204P		Atlas-SNP	.											HOXD10,NS,carcinoma,0,1	HOXD10	65	1	0			c.C612T						scavenged	.						24	30	28					2																	176982173		2195	4286	6481	SO:0001819	synonymous_variant	3236	exon1			CGAGCCCGTGAGC		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.612C>T	2.37:g.176982173C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	96	3	0.03125	NM_002148	Q6NT10	Silent	SNP	ENST00000249501.4	37	CCDS2266.1																																																																																			.	.	none		0.647	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			T	176982173	C	T	176982173	2	4	23	1	0	0	0	0	0	0	0	1	7319	639	23	1		1	HOXD10	2	176982173	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1367457	176982173	66217200	699	17155										
HOXD10	3236	hgsc.bcm.edu	37	chr2	176983923	176983923	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatgagccgagagaaccgGatccgagaactgaccgccaa	12	11	0	5	rs33913965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:176983923G>C	ENST00000249501.4	+	2	1242	c.987G>C	c.(985-987)cgG>cgC	p.R329R	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	329					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGAGAACCGGATCCGAGAAC	0.562													G|||	37	0.00738818	0.0015	0.0187	5008	,	,		10062	0.0		0.0209	False		,,,				2504	0.001				p.R329R		Atlas-SNP	.											.	HOXD10	65	.	0			c.G987C						PASS	.	G		18,4388	25.3+/-52.1	0,18,2185	45	48	47		987	3.9	1	2	dbSNP_126	47	193,8407	84.8+/-147.2	1,191,4108	no	coding-synonymous	HOXD10	NM_002148.3		1,209,6293	CC,CG,GG		2.2442,0.4085,1.6223		329/341	176983923	211,12795	2203	4300	6503	SO:0001819	synonymous_variant	3236	exon2			GAACCGGATCCGA		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.987G>C	2.37:g.176983923G>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	159	77	0.484277	NM_002148	Q6NT10	Silent	SNP	ENST00000249501.4	37	CCDS2266.1																																																																																			G|0.984;C|0.016	0.016	strong		0.562	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			C	176983923	G	C	176983923	2	2	23	1	0	0	0	0	0	0	0	1	7319	1161	41	4		4	HOXD10	2	176983923	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1750	176983923	66215450	700	17156										
HOXD4	3233	hgsc.bcm.edu	37	chr2	177016728	177016728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgaccccaagcagccgcccTccgggacggcactcaagcag	11	19	1	0	rs34727427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:177016728T>C	ENST00000306324.3	+	1	779	c.367T>C	c.(367-369)Tcc>Ccc	p.S123P	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	123			S -> P (in dbSNP:rs34727427). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1975093}.		multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGCCGCCCTCCGGGACGGC	0.687													C|||	1184	0.236422	0.4054	0.1916	5008	,	,		9977	0.0228		0.3082	False		,,,				2504	0.1861				p.S123P		Atlas-SNP	.											HOXD4,NS,carcinoma,-1,1	HOXD4	32	1	0			c.T367C						PASS	.	C	PRO/SER	1451,2795		252,947,924	28	35	33		367	2.9	1	2	dbSNP_126	33	2576,5950		397,1782,2084	yes	missense	HOXD4	NM_014621.2	74	649,2729,3008	CC,CT,TT		30.2135,34.1733,31.5299	benign	123/256	177016728	4027,8745	2123	4263	6386	SO:0001583	missense	3233	exon1			CCGCCCTCCGGGA		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.367T>C	2.37:g.177016728T>C	ENSP00000302548:p.Ser123Pro	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	41	41	1	NM_014621	B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	CCDS2269.1	511	0.23397435897435898	195	0.39634146341463417	80	0.22099447513812154	8	0.013986013986013986	228	0.3007915567282322	C	6.670	0.492176	0.12702	0.341733	0.302135	ENSG00000170166	ENST00000306324	D	0.91464	-2.85	3.98	2.91	0.33838	.	1.788980	0.03345	N	0.195361	T	0.00012	0.0000	N	0.11560	0.145	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.09574	-1.0668	9	0.14656	T	0.56	.	8.922	0.35617	0.2134:0.6905:0.0:0.0961	rs34727427;rs61746914;rs34727427	123	P09016	HXD4_HUMAN	P	123	ENSP00000302548:S123P	ENSP00000302548:S123P	S	+	1	0	HOXD4	176724974	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	0.663000	0.25053	0.784000	0.33661	-0.119000	0.15052	TCC	T|0.722;C|0.278	0.278	strong		0.687	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			C	177016728	T	C	177016728	3	2	23	1	0	0	0	0	1	0	0	0	7324	1551	54	3	369	3	HOXD4	2	177016728	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	32805	177016728	66182645	701	17157										
HOXD1	3231	hgsc.bcm.edu	37	chr2	177054769	177054769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaagggcttctggccacgGccattcctgtggctcccctc	12	15	1	1	rs6710142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:177054769G>A	ENST00000331462.4	+	2	1109	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	296			A -> T (in dbSNP:rs6710142).		embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		TCTGGCCACGGCCATTCCTGT	0.542													G|||	937	0.187101	0.3313	0.147	5008	,	,		15751	0.0149		0.2515	False		,,,				2504	0.1319				p.A296T		Atlas-SNP	.											.	HOXD1	33	.	0			c.G886A						PASS	.	G	THR/ALA	1314,3092	441.8+/-346.5	190,934,1079	109	117	114		886	1.3	0	2	dbSNP_116	114	2020,6580	351.5+/-328.3	242,1536,2522	yes	missense	HOXD1	NM_024501.1	58	432,2470,3601	AA,AG,GG		23.4884,29.823,25.6343	benign	296/329	177054769	3334,9672	2203	4300	6503	SO:0001583	missense	3231	exon2			GCCACGGCCATTC		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.886G>A	2.37:g.177054769G>A	ENSP00000328598:p.Ala296Thr	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	163	157	0.96319	NM_024501	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	394	0.1804029304029304	147	0.29878048780487804	58	0.16022099447513813	6	0.01048951048951049	183	0.24142480211081793	G	6.383	0.438828	0.12104	0.29823	0.234884	ENSG00000128645	ENST00000331462	D	0.90676	-2.71	5.66	1.3	0.21679	Homeodomain-like (1);	0.139876	0.33272	N	0.005099	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.17852	0.024;0.009	B;B	0.12156	0.005;0.007	T	0.03684	-1.1013	9	0.12766	T	0.61	.	3.1673	0.06540	0.2697:0.1163:0.4955:0.1186	rs6710142	296;296	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	T	296	ENSP00000328598:A296T	ENSP00000328598:A296T	A	+	1	0	HOXD1	176763015	0.001000	0.12720	0.002000	0.10522	0.428000	0.31595	0.921000	0.28718	0.325000	0.23359	0.655000	0.94253	GCC	G|0.768;A|0.232	0.232	strong		0.542	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			A	177054769	G	A	177054769	3	1	23	1	0	0	0	0	1	0	0	0	7318	1203	42	2	892	2	HOXD1	2	177054769	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	38041	177054769	66144604	702	17158										
TTN	7273	hgsc.bcm.edu	37	chr2	179395554	179395554	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtctctgtgggtgatacgGctttcgggtgagaaggttct					rs66961115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179395554G>A	ENST00000591111.1	-	308	101089	c.100865C>T	c.(100864-100866)gCc>gTc	p.A33622V	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A35263V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32695V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A26198V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A26323V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A26390V|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33622					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)			GGGTGATACGGCTTTCGGGTG	0.498													G|||	26	0.00519169	0.0	0.0043	5008	,	,		17466	0.0		0.0229	False		,,,				2504	0.0				p.A35263V		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,+1,5	TTN	18412	5	0			c.C105788T						scavenged	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	8,3810		0,8,1901	125	124	125		79169,78968,98084,78593	4.1	1	2	dbSNP_130	125	118,8112		0,118,3997	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	64,64,64,64	0,126,5898	AA,AG,GG		1.4338,0.2095,1.0458	benign,benign,benign,benign	26390/27119,26323/27052,32695/33424,26198/26927	179395554	126,11922	1909	4115	6024	SO:0001583	missense	7273	exon358			GATACGGCTTTCG	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.100865C>T	2.37:g.179395554G>A	ENSP00000465570:p.Ala33622Val	Somatic	387	2	0.00516796		WXS	Illumina HiSeq	Phase_I	323	130	0.402477	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	37		11	0.005036630036630037	0	0.0	0	0.0	0	0.0	11	0.014511873350923483	G	15.84	2.951848	0.53293	0.002095	0.014338	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.26;0.24;0.23	4.99	4.11	0.48088	Ribonuclease H-like (1);	.	.	.	.	T	0.37461	0.1004	N	0.24115	0.695	0.28112	N	0.930973	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.42565	-0.9444	9	0.87932	D	0	.	13.4254	0.61022	0.0763:0.0:0.9237:0.0	.	26198;26323;26390;33622	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32695;26198;26390;26323;26195	ENSP00000343764:A32695V;ENSP00000434586:A26198V;ENSP00000340554:A26390V;ENSP00000352154:A26323V	ENSP00000340554:A26390V	A	-	2	0	TTN	179103800	0.994000	0.37717	0.980000	0.43619	0.775000	0.43874	2.328000	0.43867	1.101000	0.41535	0.455000	0.32223	GCC	G|0.993;A|0.007	0.007	strong		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395554	G	A	179395554	3	1	23	1	0	0	0	0	1	0	0	0	16732	1203	42	2	2211	2	TTN	2	179395554	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2340785	179395554	63803819	703	17159	365	2								
TTN	7273	hgsc.bcm.edu	37	chr2	179395555	179395555	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctctgtgggtgatacggCtttcgggtgagaaggttctg					rs67254537	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179395555C>A	ENST00000591111.1	-	308	101088	c.100864G>T	c.(100864-100866)Gcc>Tcc	p.A33622S	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A35263S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32695S|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A26198S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A26323S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A26390S|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33622					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)			GGTGATACGGCTTTCGGGTGA	0.498													C|||	26	0.00519169	0.0	0.0043	5008	,	,		17482	0.0		0.0229	False		,,,				2504	0.0				p.A35263S		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,+2,5	TTN	18412	5	0			c.G105787T						scavenged	.	C	SER/ALA,SER/ALA,SER/ALA,SER/ALA	8,3810		0,8,1901	126	126	126		79168,78967,98083,78592	1.7	1	2	dbSNP_130	126	118,8112		0,118,3997	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	99,99,99,99	0,126,5898	AA,AC,CC		1.4338,0.2095,1.0458	benign,benign,benign,benign	26390/27119,26323/27052,32695/33424,26198/26927	179395555	126,11922	1909	4115	6024	SO:0001583	missense	7273	exon358			ATACGGCTTTCGG	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.100864G>T	2.37:g.179395555C>A	ENSP00000465570:p.Ala33622Ser	Somatic	391	2	0.00511509		WXS	Illumina HiSeq	Phase_I	331	130	0.392749	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	37		11	0.005036630036630037	0	0.0	0	0.0	0	0.0	11	0.014511873350923483	C	14.13	2.444064	0.43429	0.002095	0.014338	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;0.2;0.18;0.19	4.99	1.67	0.24075	Ribonuclease H-like (1);	.	.	.	.	T	0.34774	0.0909	N	0.14661	0.345	0.25422	N	0.988263	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.34976	-0.9807	9	0.87932	D	0	.	8.5875	0.33666	0.1266:0.7197:0.0:0.1537	.	26198;26323;26390;33622	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	32695;26198;26390;26323;26195	ENSP00000343764:A32695S;ENSP00000434586:A26198S;ENSP00000340554:A26390S;ENSP00000352154:A26323S	ENSP00000340554:A26390S	A	-	1	0	TTN	179103801	1.000000	0.71417	0.988000	0.46212	0.766000	0.43426	2.644000	0.46613	0.509000	0.28195	0.455000	0.32223	GCC	C|0.993;A|0.007	0.007	strong		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395555	C	A	179395555	3	1	23	1	0	0	0	0	1	0	0	0	16732	797	28	4	2212	4	TTN	2	179395555	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	179395555	63803818	704	17160	365	2								
TTN	7273	hgsc.bcm.edu	37	chr2	179395573	179395573	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctttcgggtgagaaggttCtggagatttcactcgttttg	14	6	2	2	rs56324595	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179395573C>T	ENST00000591111.1	-	308	101070	c.100846G>A	c.(100846-100848)Gaa>Aaa	p.E33616K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E35257K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32689K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26192K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26317K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26384K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33616			E -> K. {ECO:0000269|PubMed:17344846}.		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)			TGAGAAGGTTCTGGAGATTTC	0.493													C|||	33	0.00658946	0.0	0.0058	5008	,	,		17611	0.0		0.0278	False		,,,				2504	0.001				p.E35257K		Atlas-SNP	.											.	TTN	18412	.	0			c.G105769A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	9,3781		0,9,1886	133	131	132		78574,98065,78949,79150	5	1	2	dbSNP_129	132	144,8066		0,144,3961	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,153,5847	TT,TC,CC		1.754,0.2375,1.275	probably-damaging,probably-damaging,probably-damaging,probably-damaging	26192/26927,32689/33424,26317/27052,26384/27119	179395573	153,11847	1895	4105	6000	SO:0001583	missense	7273	exon358			AAGGTTCTGGAGA	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.100846G>A	2.37:g.179395573C>T	ENSP00000465570:p.Glu33616Lys	Somatic	437	1	0.00228833		WXS	Illumina HiSeq	Phase_I	383	158	0.412533	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	37		24	0.01098901098901099	0	0.0	2	0.0055248618784530384	0	0.0	22	0.029023746701846966	C	18.11	3.551406	0.65311	0.002375	0.01754	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.18;0.16;0.15	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.47875	0.1469	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.68693	-0.5341	9	0.87932	D	0	.	18.2867	0.90117	0.0:1.0:0.0:0.0	rs56324595	26192;26317;26384;33616	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32689;26192;26384;26317;26189	ENSP00000343764:E32689K;ENSP00000434586:E26192K;ENSP00000340554:E26384K;ENSP00000352154:E26317K	ENSP00000340554:E26384K	E	-	1	0	TTN	179103819	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.818000	0.86416	2.321000	0.78463	0.455000	0.32223	GAA	C|0.988;T|0.012	0.012	strong		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179395573	C	T	179395573	3	4	23	1	0	0	0	0	1	0	0	0	16732	922	32	2	2230	2	TTN	2	179395573	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18	179395573	63803800	705	17161										
TTN	7273	hgsc.bcm.edu	37	chr2	179400718	179400718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttatttttaccttccacttCcaaggaggcagtgccagaca	7	11	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179400718C>T	ENST00000591111.1	-	307	96057	c.95833G>A	c.(95833-95835)Gaa>Aaa	p.E31945K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33586K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31018K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24521K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24646K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24713K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31945	Ig-like 141.				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)			CCTTCCACTTCCAAGGAGGCA	0.428																																					p.E33586K		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,+2,5	TTN	18412	5	0			c.G100756A						scavenged	.						68	63	65					2																	179400718		1896	4132	6028	SO:0001583	missense	7273	exon357			CCACTTCCAAGGA	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.95833G>A	2.37:g.179400718C>T	ENSP00000465570:p.Glu31945Lys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	101	2	0.019802	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	37		.	.	.	.	.	.	.	.	.	.	C	17.25	3.341260	0.60963	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52240	0.1722	N	0.20574	0.59	0.54753	D	0.999984	B;B;B;B	0.25272	0.122;0.061;0.061;0.122	B;B;B;B	0.22601	0.04;0.01;0.01;0.04	T	0.51679	-0.8675	9	0.87932	D	0	.	19.9756	0.97304	0.0:1.0:0.0:0.0	.	24521;24646;24713;31945	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31018;24521;24713;24646;24518	ENSP00000343764:E31018K;ENSP00000434586:E24521K;ENSP00000340554:E24713K;ENSP00000352154:E24646K	ENSP00000340554:E24713K	E	-	1	0	TTN	179108964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.563000	0.77884	GAA	.	.	none		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179400718	C	T	179400718	3	4	23	1	0	0	0	0	1	0	0	0	16732	864	30	2	7247	2	TTN	2	179400718	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5145	179400718	63798655	706	17162										
TTN	7273	hgsc.bcm.edu	37	chr2	179432185	179432185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatctcctcttaaccactcaAtggtaggtaggggctttcca	8	11	3	0	rs12463674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179432185A>G	ENST00000591111.1	-	276	73975	c.73751T>C	c.(73750-73752)aTt>aCt	p.I24584T	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I26225T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I23657T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I17160T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I17285T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I17352T			Q8WZ42	TITIN_HUMAN	titin	24584	Ig-like 122.		I -> T. {ECO:0000269|PubMed:17344846}.		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)			TAACCACTCAATGGTAGGTAG	0.368													A|||	651	0.129992	0.0053	0.1124	5008	,	,		22267	0.0427		0.3091	False		,,,				2504	0.2168				p.I26225T		Atlas-SNP	.											.	TTN	18412	.	0			c.T78674C						PASS	.	A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	200,3480		5,190,1645	102	98	99		51479,70970,51854,52055	5.7	1	2	dbSNP_120	99	2480,5706		365,1750,1978	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	89,89,89,89	370,1940,3623	GG,GA,AA		30.2956,5.4348,22.5855	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	17160/26927,23657/33424,17285/27052,17352/27119	179432185	2680,9186	1840	4093	5933	SO:0001583	missense	7273	exon326			CACTCAATGGTAG	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.73751T>C	2.37:g.179432185A>G	ENSP00000465570:p.Ile24584Thr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	110	50	0.454545	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	37		332	0.152014652014652	7	0.014227642276422764	56	0.15469613259668508	25	0.043706293706293704	244	0.32189973614775724	A	15.58	2.875811	0.51695	0.054348	0.302956	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	M	0.76574	2.34	0.20307	P	0.9999138412	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.34931	0.192;0.192;0.192;0.138	T	0.04005	-1.0985	8	0.87932	D	0	.	15.874	0.79148	1.0:0.0:0.0:0.0	rs12463674;rs52811439;rs60217524;rs12463674	17160;17285;17352;24584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23657;17160;17352;17285;17158	ENSP00000343764:I23657T;ENSP00000434586:I17160T;ENSP00000340554:I17352T;ENSP00000352154:I17285T	ENSP00000340554:I17352T	I	-	2	0	TTN	179140431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.989000	0.70587	2.140000	0.66376	0.459000	0.35465	ATT	A|0.847;G|0.153	0.153	strong		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179432185	A	G	179432185	3	3	23	1	0	0	0	0	1	0	0	0	16732	101	4	2	29453	2	TTN	2	179432185	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	31467	179432185	63767188	707	17163										
TTN	7273	hgsc.bcm.edu	37	chr2	179440029	179440029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaggggcacttctccccgcGctgttcactgccatcacttg	9	16	3	0	rs12464787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179440029G>A	ENST00000591111.1	-	276	66131	c.65907C>T	c.(65905-65907)agC>agT	p.S21969S	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.S23610S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.S21042S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.S14545S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S14670S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Silent_p.S14737S			Q8WZ42	TITIN_HUMAN	titin	21969	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCCCCGCGCTGTTCACTG	0.502													G|||	734	0.146565	0.0779	0.1167	5008	,	,		20676	0.0417		0.3052	False		,,,				2504	0.2055				p.S23610S		Atlas-SNP	.											.	TTN	18412	.	0			c.C70830T						PASS	.	G	,,,	480,3602		29,422,1590	65	66	66		43635,63126,44010,44211	-2.6	0.8	2	dbSNP_120	66	2497,5897		364,1769,2064	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	393,2191,3654	AA,AG,GG		29.7474,11.7589,23.8618	,,,	14545/26927,21042/33424,14670/27052,14737/27119	179440029	2977,9499	2041	4197	6238	SO:0001819	synonymous_variant	7273	exon326			CCCCGCGCTGTTC	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.65907C>T	2.37:g.179440029G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	147	80	0.544218	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				G|0.832;A|0.168	0.168	strong		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179440029	G	A	179440029	2	1	23	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179440029	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7844	179440029	63759344	708	17164										
TTN	7273	hgsc.bcm.edu	37	chr2	179440955	179440955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtctgaagatcaggaacaaCgaactgagtgattctgaggg	13	6	3	5	rs190421400	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179440955C>T	ENST00000591111.1	-	276	65205	c.64981G>A	c.(64981-64983)Gtt>Att	p.V21661I	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V23302I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V20734I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14237I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14362I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14429I			Q8WZ42	TITIN_HUMAN	titin	21661	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V14429I(1)|p.V14237I(1)|p.V14362I(1)|p.V20732I(1)		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)			TCAGGAACAACGAACTGAGTG	0.458													c|||	4	0.000798722	0.003	0.0	5008	,	,		19570	0.0		0.0	False		,,,				2504	0.0				p.V23302I		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,0,4	TTN	18412	4	4	Substitution - Missense(4)	prostate(4)	c.G69904A						scavenged	.	T	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,3791		0,5,1893	72	71	71		43285,43084,62200,42709	4.1	0.9	2		71	1,8261		0,1,4130	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,6,6023	TT,TC,CC		0.0121,0.1317,0.0498	benign,benign,benign,benign	14429/27119,14362/27052,20734/33424,14237/26927	179440955	6,12052	1898	4131	6029	SO:0001583	missense	7273	exon326			GAACAACGAACTG	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.64981G>A	2.37:g.179440955C>T	ENSP00000465570:p.Val21661Ile	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	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	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.24	1.880041	0.33162	0.001317	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.87	4.08	0.47627	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47451	0.1446	L	0.60904	1.88	0.37679	D	0.923431	P;P;P;B	0.36086	0.536;0.536;0.536;0.383	B;B;B;B	0.30495	0.116;0.116;0.116;0.082	T	0.56129	-0.8030	9	0.87932	D	0	.	13.1755	0.59624	0.0:0.8695:0.0:0.1305	.	14237;14362;14429;21661	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	20734;14237;14429;14362;14235	ENSP00000343764:V20734I;ENSP00000434586:V14237I;ENSP00000340554:V14429I;ENSP00000352154:V14362I	ENSP00000340554:V14429I	V	-	1	0	TTN	179149201	1.000000	0.71417	0.944000	0.38274	0.937000	0.57800	4.075000	0.57584	0.823000	0.34589	-0.119000	0.15052	GTT	C|1.000;T|0.000	0.000	strong		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179440955	C	T	179440955	3	4	23	1	0	0	0	0	1	0	0	0	16732	536	19	1	38223	1	TTN	2	179440955	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	926	179440955	63758418	709	17165										
TTN	7273	hgsc.bcm.edu	37	chr2	179545859	179545859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgtttggtaattgaaataCgtattttttcctcaaaaact	5	7	1	1	rs36051007	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179545859C>T	ENST00000591111.1	-	136	32560	c.32336G>A	c.(32335-32337)cGt>cAt	p.R10779H	TTN_ENST00000589042.1_Missense_Mutation_p.R11096H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9852H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.			R -> H (in Ref. 1; CAA62189). {ECO:0000305}.	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)			AATTGAAATACGTATTTTTTC	0.328													C|||	631	0.125998	0.0068	0.1124	5008	,	,		17999	0.0357		0.3062	False		,,,				2504	0.2045				p.R11096H		Atlas-SNP	.											.	TTN	18412	.	0			c.G33287A						PASS	.	C	,,,HIS/ARG	190,3410		4,182,1614	85	79	81		,,,29555	-2.8	0.1	2	dbSNP_126	81	2467,5671		363,1741,1965	yes	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	367,1923,3579	TT,TC,CC		30.3146,5.2778,22.6359	,,,benign	,,,9852/33424	179545859	2657,9081	1800	4069	5869	SO:0001583	missense	7273	exon138			GAAATACGTATTT	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.32336G>A	2.37:g.179545859C>T	ENSP00000465570:p.Arg10779His	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	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	37		329	0.15064102564102563	9	0.018292682926829267	56	0.15469613259668508	21	0.03671328671328671	243	0.32058047493403696	C	12.26	1.884919	0.33255	0.052778	0.303146	ENSG00000155657	ENST00000342992	T	0.62788	-0.0	5.92	-2.76	0.05896	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.40571	P	0.018691000000000013	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	8	0.87932	D	0	.	4.6237	0.12467	0.1064:0.4398:0.109:0.3448	rs36051007	10779	Q8WZ42	TITIN_HUMAN	H	9852	ENSP00000343764:R9852H	ENSP00000343764:R9852H	R	-	2	0	TTN	179254104	0.001000	0.12720	0.090000	0.20809	0.962000	0.63368	-0.518000	0.06267	-0.660000	0.05352	-0.300000	0.09419	CGT	C|0.821;T|0.179	0.179	strong		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179545859	C	T	179545859	3	4	23	1	0	0	0	0	1	0	0	0	16732	536	19	1	71142	1	TTN	2	179545859	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	104904	179545859	63653514	710	17166										
TTN	7273	hgsc.bcm.edu	37	chr2	179621184	179621184	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaattgagccgtgtcaccGcactttacagtgacgtcctg	11	11	1	2	rs72955212	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179621184G>A	ENST00000591111.1	-	44	10528				TTN_ENST00000589042.1_Silent_p.C3673C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.C3502C|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTGTCACCGCACTTTACAG	0.453													g|||	26	0.00519169	0.0	0.0043	5008	,	,		21646	0.0		0.0229	False		,,,				2504	0.0				p.C3673C		Atlas-SNP	.											TTN_ENST00000342175,NS,carcinoma,-2,1	TTN	18412	1	0			c.C11019T						scavenged	.	A	,,,,	10,3856		0,10,1923	90	86	87		,,,,10506	-10.3	0	2	dbSNP_130	87	120,8124		0,120,4002	no	intron,intron,intron,intron,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,130,5925	AA,AG,GG		1.4556,0.2587,1.0735	,,,,	,,,,3502/27119	179621184	130,11980	1933	4122	6055	SO:0001627	intron_variant	7273	exon46			GTCACCGCACTTT	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.10303+2526C>T	2.37:g.179621184G>A		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	133	73	0.548872	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				G|0.990;A|0.010	0.010	strong		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179621184	G	A	179621184	1	1	23	0	1	0	0	0	0	0	0	0	16732	1079	38	1		1	TTN	2	179621184	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	75325	179621184	63578189	711	17167										
SESTD1	91404	hgsc.bcm.edu	37	chr2	179979930	179979930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagaagtgcagcgcaaagaTtggcataacacaactgtggc	12	9	0	2	rs2289993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:179979930T>C	ENST00000428443.3	-	16	2017	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	567							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCGCAAAGATTGGCATAACA	0.388													T|||	972	0.194089	0.2882	0.1081	5008	,	,		17715	0.0645		0.166	False		,,,				2504	0.2904				p.Q567Q		Atlas-SNP	.											.	SESTD1	66	.	0			c.A1701G						PASS	.	T		1082,3324	391.7+/-328.2	128,826,1249	71	63	66		1701	0.9	1	2	dbSNP_100	66	1358,7242	265.8+/-286.4	112,1134,3054	no	coding-synonymous	SESTD1	NM_178123.4		240,1960,4303	CC,CT,TT		15.7907,24.5574,18.7606		567/697	179979930	2440,10566	2203	4300	6503	SO:0001819	synonymous_variant	91404	exon16			CAAAGATTGGCAT	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1701A>G	2.37:g.179979930T>C		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	180	98	0.544444	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	CCDS33338.1																																																																																			T|0.810;C|0.190	0.190	strong		0.388	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179979930	T	C	179979930	2	2	23	1	0	0	0	0	0	0	0	1	14127	1490	52	2		2	SESTD1	2	179979930	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	358746	179979930	63219443	712	17168										
ITGA4	3676	hgsc.bcm.edu	37	chr2	182395345	182395345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccttgaaaggcatagtccGgttcttgtccaagactgata	10	9	1	3	rs1143676	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:182395345G>A	ENST00000397033.2	+	24	3063	c.2633G>A	c.(2632-2634)cGg>cAg	p.R878Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	878			R -> Q (in dbSNP:rs1143676). {ECO:0000269|PubMed:8643114, ECO:0000269|Ref.5}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGCATAGTCCGGTTCTTGTCC	0.403													A|||	3959	0.790535	0.7542	0.8026	5008	,	,		20207	0.8413		0.669	False		,,,				2504	0.9039				p.R878Q		Atlas-SNP	.											.	ITGA4	142	.	0			c.G2633A						PASS	.	A	GLN/ARG	2847,937		1080,687,125	202	181	188		2633	-10.9	0	2	dbSNP_86	188	5596,2654		1908,1780,437	yes	missense	ITGA4	NM_000885.4	43	2988,2467,562	AA,AG,GG		32.1697,24.7622,29.8405	benign	878/1033	182395345	8443,3591	1892	4125	6017	SO:0001583	missense	3676	exon24			TAGTCCGGTTCTT		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2633G>A	2.37:g.182395345G>A	ENSP00000380227:p.Arg878Gln	Somatic	205	1	0.00487805		WXS	Illumina HiSeq	Phase_I	233	229	0.982833	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	1619	0.7413003663003663	362	0.7357723577235772	277	0.7651933701657458	480	0.8391608391608392	500	0.6596306068601583	A	10.58	1.390478	0.25118	0.752378	0.678303	ENSG00000115232	ENST00000397033	T	0.44083	0.93	5.45	-10.9	0.00192	.	1.265470	0.05097	N	0.486427	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.22003	0.063	B	0.22753	0.041	T	0.21211	-1.0252	9	0.18276	T	0.48	.	1.4346	0.02341	0.3668:0.2961:0.1653:0.1718	rs1143676;rs2305579;rs4667319;rs17484822;rs52836429;rs58692589;rs4667319	878	P13612	ITA4_HUMAN	Q	878	ENSP00000380227:R878Q	ENSP00000380227:R878Q	R	+	2	0	ITGA4	182103590	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-3.957000	0.00325	-3.283000	0.00196	-0.360000	0.07572	CGG	G|0.258;A|0.742	0.742	strong		0.403	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182395345	G	A	182395345	3	1	23	1	0	0	0	0	1	0	0	0	7878	1116	39	1	2727	1	ITGA4	2	182395345	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2415415	182395345	60804028	713	17169										
CERKL	375298	hgsc.bcm.edu	37	chr2	182468803	182468803	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagcaagtcatacttagaaTcacctgaaaaaaaaataaat	4	6	2	2	rs61750041	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:182468803T>G	ENST00000339098.5	-	2	241	c.242A>C	c.(241-243)gAt>gCt	p.D81A	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.D81A|CERKL_ENST00000410087.3_Missense_Mutation_p.D81A|CERKL_ENST00000374969.2_Missense_Mutation_p.D81A|CERKL_ENST00000409440.3_Missense_Mutation_p.D81A			Q49MI3	CERKL_HUMAN	ceramide kinase-like	81					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATACTTAGAATCACCTGAAAA	0.358													T|||	781	0.15595	0.1044	0.1945	5008	,	,		17869	0.2808		0.165	False		,,,				2504	0.0603				p.D81A		Atlas-SNP	.											.	CERKL	138	.	0			c.A242C						PASS	.	T	ALA/ASP,ALA/ASP,ALA/ASP,ALA/ASP,ALA/ASP	492,3912		31,430,1741	34	34	34		242,242,242,242,242	3	0.4	2	dbSNP_129	34	1097,7491		81,935,3278	yes	missense,missense,missense,missense,missense	CERKL	NM_001030311.2,NM_001030312.2,NM_001030313.2,NM_001160277.1,NM_201548.4	126,126,126,126,126	112,1365,5019	GG,GT,TT		12.7736,11.1717,12.2306	benign,benign,benign,benign,benign	81/559,81/420,81/464,81/515,81/533	182468803	1589,11403	2202	4294	6496	SO:0001583	missense	375298	exon2			TTAGAATCACCTG	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.242A>C	2.37:g.182468803T>G	ENSP00000341159:p.Asp81Ala	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	40	20	0.5	NM_001160277	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	424	0.19413919413919414	61	0.12398373983739837	74	0.20441988950276244	157	0.2744755244755245	132	0.1741424802110818	T	14.01	2.406816	0.42715	0.111717	0.127736	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.26;2.51;1.52;2.53;1.52	5.4	2.99	0.34606	.	0.896212	0.09452	N	0.800322	T	0.00012	0.0000	N	0.24115	0.695	0.46437	P	9.569999999999856E-4	P;P;P;P;P	0.46512	0.879;0.617;0.655;0.775;0.717	B;B;B;B;B	0.38264	0.227;0.121;0.269;0.225;0.15	T	0.14587	-1.0467	9	0.06891	T	0.86	.	4.8592	0.13575	0.2878:0.079:0.0:0.6332	.	81;81;81;81;81	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	A	81	ENSP00000386725:D81A;ENSP00000387080:D81A;ENSP00000364108:D81A;ENSP00000341159:D81A;ENSP00000364109:D81A	ENSP00000341159:D81A	D	-	2	0	CERKL	182177048	0.997000	0.39634	0.375000	0.26029	0.935000	0.57460	1.753000	0.38359	0.350000	0.24002	0.528000	0.53228	GAT	T|0.866;G|0.134	0.134	strong		0.358	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			G	182468803	T	G	182468803	3	3	23	1	0	0	0	0	1	0	0	0	3268	1435	50	5	1486	5	CERKL	2	182468803	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	73458	182468803	60730570	714	17170										
DUSP19	142679	hgsc.bcm.edu	37	chr2	183951796	183951796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattcttaatgttgcatatgGagttgaaaatgctttcctca	7	6	2	1	rs368865344		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:183951796G>A	ENST00000354221.4	+	3	477	c.302G>A	c.(301-303)gGa>gAa	p.G101E	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron|DUSP19_ENST00000469344.1_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	101					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GTTGCATATGGAGTTGAAAAT	0.333																																					p.G101E		Atlas-SNP	.											.	DUSP19	41	.	0			c.G302A						PASS	.		GLU/GLY,	0,4404		0,0,2202	112	111	111		302,	5.4	1	2		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	DUSP19	NM_080876.3,NM_001142314.1	98,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	101/218,	183951796	1,13003	2202	4300	6502	SO:0001583	missense	142679	exon3			CATATGGAGTTGA	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.302G>A	2.37:g.183951796G>A	ENSP00000346160:p.Gly101Glu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	17	0.354167	NM_080876	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	g	18.99	3.739002	0.69304	0.0	1.16E-4	ENSG00000162999	ENST00000354221	D	0.83506	-1.73	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.199838	0.53938	D	0.000058	T	0.79106	0.4390	L	0.35341	1.055	0.80722	D	1	P	0.42908	0.793	P	0.46885	0.53	T	0.74284	-0.3715	10	0.02654	T	1	.	19.5054	0.95113	0.0:0.0:1.0:0.0	.	101	Q8WTR2	DUS19_HUMAN	E	101	ENSP00000346160:G101E	ENSP00000346160:G101E	G	+	2	0	DUSP19	183660041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	2.674000	0.91012	0.651000	0.88453	GGA	.	.	weak		0.333	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			A	183951796	G	A	183951796	3	1	23	1	0	0	0	0	1	0	0	0	4818	1174	41	2	312	2	DUSP19	2	183951796	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1482993	183951796	59247577	715	17171										
ZNF804A	91752	hgsc.bcm.edu	37	chr2	185801917	185801917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagtagaagaaagaaaaaAagaaaaaagttatgtcagca	8	2	1	4	rs728534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:185801917A>G	ENST00000302277.6	+	4	2388	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	598							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						GAAAGAAAAAAAGAAAAAAGT	0.333													A|||	798	0.159345	0.0076	0.1326	5008	,	,		18012	0.2312		0.2147	False		,,,				2504	0.2526				p.K598K		Atlas-SNP	.											.	ZNF804A	322	.	0			c.A1794G						PASS	.	A		180,4222		5,170,2026	47	55	52		1794	0.1	0.9	2	dbSNP_86	52	1683,6903		182,1319,2792	no	coding-synonymous	ZNF804A	NM_194250.1		187,1489,4818	GG,GA,AA		19.6017,4.0891,14.344		598/1210	185801917	1863,11125	2201	4293	6494	SO:0001819	synonymous_variant	91752	exon4			GAAAAAAAGAAAA	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.1794A>G	2.37:g.185801917A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	81	41	0.506173	NM_194250	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																			A|0.840;G|0.160	0.160	strong		0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185801917	A	G	185801917	2	3	23	1	0	0	0	0	0	0	0	1	18167	11	1	2		2	ZNF804A	2	185801917	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1850121	185801917	57397456	716	17172										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186670780	186670780	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagggaaagatgatgagataTacacacatttttcattaata	7	4	1	3	rs16827154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:186670780T>A	ENST00000424728.1	+	17	16747	c.16747T>A	c.(16747-16749)Tac>Aac	p.Y5583N	FSIP2_ENST00000343098.5_Missense_Mutation_p.Y5672N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5583				Y -> N (in Ref. 3; AK126051). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGATGAGATATACACACATTT	0.284													T|||	2526	0.504393	0.4365	0.4755	5008	,	,		18268	0.4702		0.508	False		,,,				2504	0.6483				p.Y5672N		Atlas-SNP	.											FSIP2_ENST00000343098,colon,carcinoma,0,2	FSIP2	251	2	0			c.T17014A						PASS	.	T	ASN/TYR	1687,1893		402,883,505	63	66	65		17014	-2	0	2	dbSNP_123	65	4305,3805		1153,1999,903	yes	missense	FSIP2	NM_173651.2	143	1555,2882,1408	AA,AT,TT		46.9174,47.1229,48.7425	benign	5672/6997	186670780	5992,5698	1790	4055	5845	SO:0001583	missense	401024	exon17			GAGATATACACAC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16747T>A	2.37:g.186670780T>A	ENSP00000401306:p.Tyr5583Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	61	0.580952	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		1040	0.47619047619047616	217	0.4410569105691057	176	0.4861878453038674	268	0.46853146853146854	379	0.5	T	10.36	1.328093	0.24080	0.471229	0.530826	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.52983	0.64;0.64	4.87	-2.02	0.07388	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	.	.	.	.	.	.	T	0.47484	-0.9114	6	0.30854	T	0.27	.	5.5017	0.16833	0.0:0.2792:0.1607:0.56	rs16827154;rs16827154	.	.	.	N	5672;5583	ENSP00000344403:Y5672N;ENSP00000401306:Y5583N	ENSP00000344403:Y5672N	Y	+	1	0	FSIP2	186379025	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.678000	0.01942	-0.281000	0.09141	-0.202000	0.12741	TAC	T|0.513;A|0.487	0.487	strong		0.284	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186670780	T	A	186670780	3	1	23	1	0	0	0	0	1	0	0	0	6075	1406	49	5	17080	5	FSIP2	2	186670780	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	868863	186670780	56528593	717	17173										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186671256	186671256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctcaactaacaaaaaTatctctgccaaagaaaaaga	3	11	2	2	rs17826498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:186671256T>C	ENST00000424728.1	+	17	17223	c.17223T>C	c.(17221-17223)aaT>aaC	p.N5741N	FSIP2_ENST00000343098.5_Silent_p.N5830N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5741										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTAACAAAAATATCTCTGCCA	0.378													T|||	39	0.00778754	0.0023	0.0101	5008	,	,		17132	0.001		0.0229	False		,,,				2504	0.0051				p.N5830N		Atlas-SNP	.											.	FSIP2	251	.	0			c.T17490C						PASS	.	T		16,3594		0,16,1789	53	49	50		17490	0.7	0	2	dbSNP_123	50	242,7898		4,234,3832	no	coding-synonymous	FSIP2	NM_173651.2		4,250,5621	CC,CT,TT		2.973,0.4432,2.1957		5830/6997	186671256	258,11492	1805	4070	5875	SO:0001819	synonymous_variant	401024	exon17			CAAAAATATCTCT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17223T>C	2.37:g.186671256T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	84	46	0.547619	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																				T|0.985;C|0.015	0.015	strong		0.378	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		C	186671256	T	C	186671256	2	2	23	1	0	0	0	0	0	0	0	1	6075	1403	49	2		2	FSIP2	2	186671256	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	476	186671256	56528117	718	17174										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186671357	186671357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatgatcctcaaaaccaacGagaaagtaaacctggaattt	7	8	1	3	rs17826534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:186671357G>A	ENST00000424728.1	+	17	17324	c.17324G>A	c.(17323-17325)cGa>cAa	p.R5775Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.R5864Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5775				R -> Q (in Ref. 3; AK126051). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAAACCAACGAGAAAGTAAA	0.343													G|||	2701	0.539337	0.5582	0.4928	5008	,	,		18055	0.4702		0.5099	False		,,,				2504	0.6483				p.R5864Q		Atlas-SNP	.											FSIP2_ENST00000343098,caecum,carcinoma,+1,2	FSIP2	251	2	0			c.G17591A						PASS	.	G	GLN/ARG	2031,1573		567,897,338	73	70	71		17591	3.1	0	2	dbSNP_123	71	4338,3802		1152,2034,884	yes	missense	FSIP2	NM_173651.2	43	1719,2931,1222	AA,AG,GG		46.7076,43.6459,45.7681	possibly-damaging	5864/6997	186671357	6369,5375	1802	4070	5872	SO:0001583	missense	401024	exon17			ACCAACGAGAAAG	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17324G>A	2.37:g.186671357G>A	ENSP00000401306:p.Arg5775Gln	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	176	68	0.386364	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		1108	0.5073260073260073	275	0.5589430894308943	185	0.511049723756906	268	0.46853146853146854	380	0.5013192612137203	G	0.224	-1.026172	0.02045	0.563541	0.532924	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.43294	0.95;0.96	4.85	3.07	0.35406	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.43956	-0.9359	6	0.23302	T	0.38	.	6.5117	0.22226	0.0:0.7165:0.1857:0.0979	rs17826534;rs52791591;rs58063906;rs17826534	.	.	.	Q	5864;5775	ENSP00000344403:R5864Q;ENSP00000401306:R5775Q	ENSP00000344403:R5864Q	R	+	2	0	FSIP2	186379602	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.408000	0.21065	0.651000	0.30788	-0.203000	0.12734	CGA	G|0.487;A|0.513	0.513	strong		0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186671357	G	A	186671357	3	1	23	1	0	0	0	0	1	0	0	0	6075	1058	37	1	17657	1	FSIP2	2	186671357	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	101	186671357	56528016	719	17175										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186671912	186671912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gataaatgaaattttccaacGtcaggttaacttgatatttt	6	5	1	2	rs1862066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:186671912G>A	ENST00000424728.1	+	17	17879	c.17879G>A	c.(17878-17880)cGt>cAt	p.R5960H	FSIP2_ENST00000343098.5_Missense_Mutation_p.R6049H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5960				R -> H (in Ref. 3; AK126051/BAC86406). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTTTCCAACGTCAGGTTAAC	0.353													A|||	2707	0.540535	0.5582	0.4928	5008	,	,		18277	0.4702		0.5099	False		,,,				2504	0.6544				p.R6049H		Atlas-SNP	.											FSIP2_ENST00000343098,caecum,carcinoma,+1,2	FSIP2	251	2	0			c.G18146A						PASS	.	A	HIS/ARG	2085,1589		587,911,339	137	131	133		18146	3.7	0.6	2	dbSNP_92	133	4350,3806		1155,2040,883	yes	missense	FSIP2	NM_173651.2	29	1742,2951,1222	AA,AG,GG		46.665,43.2499,45.6044	benign	6049/6997	186671912	6435,5395	1837	4078	5915	SO:0001583	missense	401024	exon17			TCCAACGTCAGGT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17879G>A	2.37:g.186671912G>A	ENSP00000401306:p.Arg5960His	Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	200	91	0.455	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		1108	0.5073260073260073	275	0.5589430894308943	185	0.511049723756906	268	0.46853146853146854	380	0.5013192612137203	A	0.015	-1.549129	0.00926	0.567501	0.53335	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.38560	1.13;1.14	4.8	3.65	0.41850	.	0.119549	0.38058	N	0.001825	T	0.00012	0.0000	N	0.00926	-1.1	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.47736	-0.9094	7	0.02654	T	1	.	6.2369	0.20768	0.8006:0.0:0.1994:0.0	rs1862066;rs17826552;rs58334158;rs1862066	.	.	.	H	6049;5960	ENSP00000344403:R6049H;ENSP00000401306:R5960H	ENSP00000344403:R6049H	R	+	2	0	FSIP2	186380157	0.775000	0.28604	0.573000	0.28510	0.499000	0.33736	1.351000	0.34022	0.343000	0.23821	-0.490000	0.04691	CGT	G|0.479;A|0.521	0.521	strong		0.353	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186671912	G	A	186671912	3	1	23	1	0	0	0	0	1	0	0	0	6075	1145	40	1	18212	1	FSIP2	2	186671912	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	555	186671912	56527461	720	17176										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186678633	186678633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtgcaaatattgaaagtaCtgaagcaatctcaaatcagg	8	7	2	2	rs17826666	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:186678633C>T	ENST00000424728.1	+	18	20189	c.20189C>T	c.(20188-20190)aCt>aTt	p.T6730I	FSIP2_ENST00000343098.5_Missense_Mutation_p.T6819I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6730				T -> I (in Ref. 2; BX648733). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTGAAAGTACTGAAGCAATC	0.403													C|||	265	0.0529153	0.0038	0.0634	5008	,	,		19953	0.0079		0.1004	False		,,,				2504	0.1094				p.T6819I		Atlas-SNP	.											.	FSIP2	251	.	0			c.C20456T						PASS	.	C	ILE/THR	72,3748		0,72,1838	89	85	86		20456	-5.7	0	2	dbSNP_123	86	776,7482		27,722,3380	yes	missense	FSIP2	NM_173651.2	89	27,794,5218	TT,TC,CC		9.3969,1.8848,7.021	benign	6819/6997	186678633	848,11230	1910	4129	6039	SO:0001583	missense	401024	exon18			AAAGTACTGAAGC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20189C>T	2.37:g.186678633C>T	ENSP00000401306:p.Thr6730Ile	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	230	112	0.486957	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		120	0.054945054945054944	4	0.008130081300813009	27	0.07458563535911603	4	0.006993006993006993	85	0.11213720316622691	C	3.880	-0.026082	0.07589	0.018848	0.093969	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39229	1.09;1.09	5.29	-5.67	0.02444	.	1.038600	0.07609	N	0.925119	T	0.00468	0.0015	N	0.12182	0.205	0.80722	P	0.0	.	.	.	.	.	.	T	0.19128	-1.0315	7	0.21014	T	0.42	.	13.0578	0.58990	0.0:0.6171:0.0:0.3829	rs17826666;rs17826666	.	.	.	I	6819;6730	ENSP00000344403:T6819I;ENSP00000401306:T6730I	ENSP00000344403:T6819I	T	+	2	0	FSIP2	186386878	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.829000	0.01701	-1.109000	0.02996	-1.036000	0.02392	ACT	C|0.944;T|0.056	0.056	strong		0.403	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		T	186678633	C	T	186678633	3	4	23	1	0	0	0	0	1	0	0	0	6075	565	20	2	20526	2	FSIP2	2	186678633	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6721	186678633	56520740	721	17177										
FAM171B	165215	hgsc.bcm.edu	37	chr2	187558960	187558960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcggcctggccgtggtgctGctgaaagcgcggctggtccc	16	14	0	1	rs2276562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187558960G>A	ENST00000304698.5	+	1	263	c.60G>A	c.(58-60)ctG>ctA	p.L20L	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	20						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGTGGTGCTGCTGAAAGCGC	0.687													G|||	1446	0.288738	0.0598	0.2939	5008	,	,		12251	0.7153		0.2624	False		,,,				2504	0.182				p.L20L		Atlas-SNP	.											.	FAM171B	146	.	0			c.G60A						PASS	.	G		333,3951		10,313,1819	12	14	13		60	2	1	2	dbSNP_100	13	1773,6647		180,1413,2617	no	coding-synonymous	FAM171B	NM_177454.3		190,1726,4436	AA,AG,GG		21.057,7.7731,16.5775		20/827	187558960	2106,10598	2142	4210	6352	SO:0001819	synonymous_variant	165215	exon1			GGTGCTGCTGAAA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.60G>A	2.37:g.187558960G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																			G|0.763;A|0.237	0.237	strong		0.687	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187558960	G	A	187558960	2	1	23	1	0	0	0	0	0	0	0	1	5491	1306	46	2		2	FAM171B	2	187558960	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	880327	187558960	55640413	722	17178										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187692908	187692908	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctggaagtaaagttgatcTcttgttgtcctctcttattt	7	8	3	1	rs17852916	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187692908T>G	ENST00000295131.2	-	9	1744	c.1705A>C	c.(1705-1707)Aga>Cga	p.R569R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	569					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAAGTTGATCTCTTGTTGTCC	0.368													t|||	726	0.144968	0.3154	0.0994	5008	,	,		17199	0.0208		0.1093	False		,,,				2504	0.1115				p.R569R		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.A1705C						PASS	.	G		1331,3075	441.8+/-346.5	205,921,1077	114	113	113		1705	4.3	0	2	dbSNP_123	113	972,7628	209.8+/-250.9	45,882,3373	no	coding-synonymous	ZSWIM2	NM_182521.2		250,1803,4450	GG,GT,TT		11.3023,30.2088,17.7072		569/634	187692908	2303,10703	2203	4300	6503	SO:0001819	synonymous_variant	151112	exon9			TTGATCTCTTGTT	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1705A>C	2.37:g.187692908T>G		Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	265	123	0.464151	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	CCDS33348.1																																																																																			T|0.838;G|0.162	0.162	strong		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		G	187692908	T	G	187692908	2	3	23	1	0	0	0	0	0	0	0	1	18238	1559	54	5		5	ZSWIM2	2	187692908	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	133948	187692908	55506465	723	17179										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187692983	187692983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatttacagcctttggtcaTccggcttagactagtgtgaa	9	9	1	2	rs17856918	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187692983T>C	ENST00000295131.2	-	9	1669	c.1630A>G	c.(1630-1632)Atg>Gtg	p.M544V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	544				M -> V (in Ref. 4; AAH31094). {ECO:0000305}.	apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTTTGGTCATCCGGCTTAGA	0.398													T|||	873	0.174321	0.4213	0.1066	5008	,	,		14139	0.0218		0.1103	False		,,,				2504	0.1115				p.M544V		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.A1630G						PASS	.	T	VAL/MET	1752,2654	511.2+/-367.7	346,1060,797	97	92	94		1630	5.5	0	2	dbSNP_123	94	977,7623	209.8+/-250.9	44,889,3367	yes	missense	ZSWIM2	NM_182521.2	21	390,1949,4164	CC,CT,TT		11.3605,39.764,20.9826	benign	544/634	187692983	2729,10277	2203	4300	6503	SO:0001583	missense	151112	exon9			TGGTCATCCGGCT	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1630A>G	2.37:g.187692983T>C	ENSP00000295131:p.Met544Val	Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	250	139	0.556	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	326	0.14926739926739926	193	0.39227642276422764	41	0.1132596685082873	10	0.017482517482517484	82	0.10817941952506596	T	1.692	-0.503653	0.04261	0.39764	0.113605	ENSG00000163012	ENST00000295131	T	0.21361	2.01	5.46	5.46	0.80206	.	0.613366	0.15829	N	0.242594	T	0.00012	0.0000	L	0.42245	1.32	0.80722	P	0.0	B	0.12630	0.006	B	0.08055	0.003	T	0.45352	-0.9267	9	0.26408	T	0.33	0.2554	11.9266	0.52823	0.0:0.0:0.0:1.0	rs17856918;rs17856918	544	Q8NEG5	ZSWM2_HUMAN	V	544	ENSP00000295131:M544V	ENSP00000295131:M544V	M	-	1	0	ZSWIM2	187401228	0.950000	0.32346	0.013000	0.15412	0.031000	0.12232	2.484000	0.45242	2.088000	0.63022	0.402000	0.26972	ATG	T|0.813;C|0.187	0.187	strong		0.398	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		C	187692983	T	C	187692983	3	2	23	1	0	0	0	0	1	0	0	0	18238	1435	50	2	275	2	ZSWIM2	2	187692983	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	75	187692983	55506390	724	17180										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187693003	187693003	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccggcttagactagtgtgaAattttccactgatgcatgga	10	8	0	3	rs10195632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187693003A>T	ENST00000295131.2	-	9	1649	c.1610T>A	c.(1609-1611)tTt>tAt	p.F537Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	537				F -> Y (in Ref. 4; AAH31094). {ECO:0000305}.	apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTAGTGTGAAATTTTCCACT	0.398													T|||	872	0.174121	0.4213	0.1066	5008	,	,		15598	0.0208		0.1103	False		,,,				2504	0.1115				p.F537Y		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.T1610A						PASS	.	T	TYR/PHE	1755,2651	643.9+/-397.9	345,1065,793	87	82	84		1610	-0.8	0	2	dbSNP_119	84	980,7620	773.6+/-407.7	44,892,3364	yes	missense	ZSWIM2	NM_182521.2	22	389,1957,4157	TT,TA,AA		11.3953,39.832,21.0288	benign	537/634	187693003	2735,10271	2203	4300	6503	SO:0001583	missense	151112	exon9			GTGTGAAATTTTC	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1610T>A	2.37:g.187693003A>T	ENSP00000295131:p.Phe537Tyr	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	223	123	0.55157	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	326	0.14926739926739926	193	0.39227642276422764	41	0.1132596685082873	10	0.017482517482517484	82	0.10817941952506596	T	0.003	-2.476034	0.00165	0.39832	0.113953	ENSG00000163012	ENST00000295131	T	0.21031	2.03	4.48	-0.832	0.10785	.	1.451510	0.04341	N	0.354113	T	0.00012	0.0000	N	0.00841	-1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	2.3903	0.1252	0.00068	0.306:0.1875:0.1577:0.3489	rs10195632;rs17856917;rs52835959;rs10195632	537	Q8NEG5	ZSWM2_HUMAN	Y	537	ENSP00000295131:F537Y	ENSP00000295131:F537Y	F	-	2	0	ZSWIM2	187401248	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.020000	0.03618	-0.653000	0.05401	-0.496000	0.04628	TTT	A|0.813;T|0.187	0.187	strong		0.398	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		T	187693003	A	T	187693003	3	4	23	1	0	0	0	0	1	0	0	0	18238	14	1	5	295	5	ZSWIM2	2	187693003	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	20	187693003	55506370	725	17181										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187693104	187693104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatggtattttcccaaatgaCacagtgggtaaatcttgaag	10	6	1	2	rs10172225	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187693104C>T	ENST00000295131.2	-	9	1548	c.1509G>A	c.(1507-1509)gtG>gtA	p.V503V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	503					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCCCAAATGACACAGTGGGTA	0.333													T|||	872	0.174121	0.4213	0.1066	5008	,	,		18832	0.0208		0.1103	False		,,,				2504	0.1115				p.V503V		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.G1509A						PASS	.	T		1766,2640	643.0+/-397.8	353,1060,790	64	64	64		1509	1.2	0	2	dbSNP_119	64	979,7621	773.0+/-407.7	44,891,3365	no	coding-synonymous	ZSWIM2	NM_182521.2		397,1951,4155	TT,TC,CC		11.3837,40.0817,21.1056		503/634	187693104	2745,10261	2203	4300	6503	SO:0001819	synonymous_variant	151112	exon9			AAATGACACAGTG	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1509G>A	2.37:g.187693104C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	CCDS33348.1																																																																																			C|0.805;T|0.195	0.195	strong		0.333	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		T	187693104	C	T	187693104	2	4	23	1	0	0	0	0	0	0	0	1	18238	465	17	2		2	ZSWIM2	2	187693104	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	101	187693104	55506269	726	17182										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187693155	187693155	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatgttggctaattttataAtcataggttaatttttttga	6	2	1	1	rs10195758	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187693155A>T	ENST00000295131.2	-	9	1497	c.1458T>A	c.(1456-1458)gaT>gaA	p.D486E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	486				D -> E (in Ref. 4; AAH31094). {ECO:0000305}.	apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAATTTTATAATCATAGGTTA	0.313													T|||	872	0.174121	0.4213	0.1066	5008	,	,		18538	0.0208		0.1103	False		,,,				2504	0.1115				p.D486E		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.T1458A						PASS	.	T	GLU/ASP	1744,2660	627.9+/-395.0	343,1058,801	40	45	43		1458	1.6	0.7	2	dbSNP_119	43	968,7632	763.8+/-407.6	44,880,3376	yes	missense	ZSWIM2	NM_182521.2	45	387,1938,4177	TT,TA,AA		11.2558,39.6004,20.8551	benign	486/634	187693155	2712,10292	2202	4300	6502	SO:0001583	missense	151112	exon9			TTTATAATCATAG	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1458T>A	2.37:g.187693155A>T	ENSP00000295131:p.Asp486Glu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	326	0.14926739926739926	193	0.39227642276422764	41	0.1132596685082873	10	0.017482517482517484	82	0.10817941952506596	T	0.006	-2.092970	0.00364	0.396004	0.112558	ENSG00000163012	ENST00000295131	T	0.21932	1.98	5.6	1.56	0.23342	.	0.342270	0.25377	N	0.031119	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	9	0.02654	T	1	-4.9417	3.3678	0.07210	0.3418:0.2581:0.0:0.4001	rs10195758;rs17856916;rs10195758	486	Q8NEG5	ZSWM2_HUMAN	E	486	ENSP00000295131:D486E	ENSP00000295131:D486E	D	-	3	2	ZSWIM2	187401400	0.001000	0.12720	0.711000	0.30485	0.001000	0.01503	-0.697000	0.05098	0.074000	0.16767	-0.336000	0.08194	GAT	A|0.819;T|0.181	0.181	strong		0.313	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		T	187693155	A	T	187693155	3	4	23	1	0	0	0	0	1	0	0	0	18238	98	4	5	447	5	ZSWIM2	2	187693155	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	51	187693155	55506218	727	17183										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187697883	187697883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtgacatcttttcttcaAtctcatttttagtatctatg	4	7	5	1	rs10164815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187697883A>G	ENST00000295131.2	-	7	944	c.905T>C	c.(904-906)aTt>aCt	p.I302T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	302				I -> T (in Ref. 4; AAH31094). {ECO:0000305}.	apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTTTTCTTCAATCTCATTTTT	0.294													A|||	872	0.174121	0.4213	0.1066	5008	,	,		13175	0.0208		0.1113	False		,,,				2504	0.1104				p.I302T		Atlas-SNP	.											ZSWIM2,NS,carcinoma,-1,1	ZSWIM2	119	1	0			c.T905C						PASS	.	A	THR/ILE	1740,2658	500.1+/-364.6	342,1056,801	113	108	110		905	-4.1	0.1	2	dbSNP_119	110	970,7618	203.8+/-246.7	44,882,3368	yes	missense	ZSWIM2	NM_182521.2	89	386,1938,4169	GG,GA,AA		11.2948,39.5634,20.8686	benign	302/634	187697883	2710,10276	2199	4294	6493	SO:0001583	missense	151112	exon7			TCTTCAATCTCAT	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.905T>C	2.37:g.187697883A>G	ENSP00000295131:p.Ile302Thr	Somatic	312	1	0.00320513		WXS	Illumina HiSeq	Phase_I	283	128	0.452297	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	326	0.14926739926739926	193	0.39227642276422764	41	0.1132596685082873	10	0.017482517482517484	82	0.10817941952506596	A	5.584	0.292590	0.10567	0.395634	0.112948	ENSG00000163012	ENST00000295131	T	0.22743	1.94	5.28	-4.09	0.03951	.	0.950517	0.08736	N	0.901379	T	0.00012	0.0000	L	0.31926	0.97	0.80722	P	0.0	B	0.10296	0.003	B	0.09377	0.004	T	0.47598	-0.9105	9	0.02654	T	1	0.2256	0.3454	0.00340	0.2072:0.265:0.1812:0.3466	rs10164815;rs17845944;rs17858925;rs52821540;rs59170533;rs10164815	302	Q8NEG5	ZSWM2_HUMAN	T	302	ENSP00000295131:I302T	ENSP00000295131:I302T	I	-	2	0	ZSWIM2	187406128	0.035000	0.19736	0.059000	0.19551	0.932000	0.56968	-0.045000	0.12003	-0.275000	0.09219	0.477000	0.44152	ATT	A|0.809;G|0.191	0.191	strong		0.294	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		G	187697883	A	G	187697883	3	3	23	1	0	0	0	0	1	0	0	0	18238	101	4	2	1008	2	ZSWIM2	2	187697883	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4728	187697883	55501490	728	17184										
ZSWIM2	151112	hgsc.bcm.edu	37	chr2	187698707	187698707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtgtgggaaagatggcagCagctatcaaaacattcctgg	12	8	1	1	rs6434197	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:187698707C>T	ENST00000295131.2	-	6	833	c.794G>A	c.(793-795)tGc>tAc	p.C265Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	265				C -> Y (in Ref. 4; AAH31094). {ECO:0000305}.	apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAGATGGCAGCAGCTATCAAA	0.358													C|||	871	0.173922	0.4213	0.1066	5008	,	,		19180	0.0208		0.1103	False		,,,				2504	0.1104				p.C265Y		Atlas-SNP	.											.	ZSWIM2	119	.	0			c.G794A						PASS	.	C	TYR/CYS	1761,2645	522.3+/-370.8	345,1071,787	139	120	127		794	2.9	0.6	2	dbSNP_116	127	978,7622	211.8+/-252.3	44,890,3366	yes	missense	ZSWIM2	NM_182521.2	194	389,1961,4153	TT,TC,CC		11.3721,39.9682,21.0595	possibly-damaging	265/634	187698707	2739,10267	2203	4300	6503	SO:0001583	missense	151112	exon6			TGGCAGCAGCTAT	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.794G>A	2.37:g.187698707C>T	ENSP00000295131:p.Cys265Tyr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	51	0.51	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	326	0.14926739926739926	193	0.39227642276422764	41	0.1132596685082873	10	0.017482517482517484	82	0.10817941952506596	C	14.90	2.672216	0.47781	0.399682	0.113721	ENSG00000163012	ENST00000295131	D	0.87103	-2.21	5.78	2.94	0.34122	Zinc finger, ZZ-type (1);	0.203889	0.35495	N	0.003173	T	0.00012	0.0000	L	0.54323	1.7	0.34988	P	0.24524800000000002	D	0.56287	0.975	P	0.55011	0.766	T	0.17107	-1.0380	9	0.31617	T	0.26	-0.3472	3.1443	0.06466	0.1403:0.5685:0.1362:0.155	rs6434197;rs17852919;rs52810898;rs58561796;rs6434197	265	Q8NEG5	ZSWM2_HUMAN	Y	265	ENSP00000295131:C265Y	ENSP00000295131:C265Y	C	-	2	0	ZSWIM2	187406952	0.004000	0.15560	0.630000	0.29268	0.581000	0.36288	0.540000	0.23191	0.797000	0.33971	0.467000	0.42956	TGC	C|0.806;T|0.194	0.194	strong		0.358	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		T	187698707	C	T	187698707	3	4	23	1	0	0	0	0	1	0	0	0	18238	710	25	2	1123	2	ZSWIM2	2	187698707	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	824	187698707	55500666	729	17185										
COL3A1	1281	hgsc.bcm.edu	37	chr2	189852846	189852846	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccccctggtacatctggtCatcctggttcccctgtaagt	9	14	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:189852846C>T	ENST00000304636.3	+	6	738	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	COL3A1_ENST00000317840.5_Missense_Mutation_p.H190Y	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	190	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TACATCTGGTCATCCTGGTTC	0.403																																					p.H190Y		Atlas-SNP	.											COL3A1,mucosal,malignant_melanoma,0,1	COL3A1	292	1	0			c.C568T						scavenged	.						101	106	104					2																	189852846		2203	4300	6503	SO:0001583	missense	1281	exon6			TCTGGTCATCCTG	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.568C>T	2.37:g.189852846C>T	ENSP00000304408:p.His190Tyr	Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	299	3	0.0100334	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951521	0.18431	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95171	-3.63;-3.63	5.43	5.43	0.79202	.	0.155742	0.31177	N	0.008108	D	0.90638	0.7064	N	0.19112	0.55	0.46901	D	0.999243	P	0.48911	0.917	P	0.48166	0.569	D	0.87494	0.2429	10	0.02654	T	1	.	19.0366	0.92982	0.0:1.0:0.0:0.0	.	190	P02461	CO3A1_HUMAN	Y	190	ENSP00000304408:H190Y;ENSP00000315243:H190Y	ENSP00000304408:H190Y	H	+	1	0	COL3A1	189561091	0.976000	0.34144	1.000000	0.80357	0.983000	0.72400	3.171000	0.50824	2.830000	0.97506	0.585000	0.79938	CAT	.	.	none		0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		T	189852846	C	T	189852846	3	4	23	1	0	0	0	0	1	0	0	0	3688	826	29	2	590	2	COL3A1	2	189852846	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2154139	189852846	53346527	730	17186										
ANKAR	150709	hgsc.bcm.edu	37	chr2	190569908	190569908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcatcattattgctctctGtaggaaggatcctagtttgc	9	8	2	0	rs116660656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:190569908G>A	ENST00000520309.1	+	8	1956	c.1868G>A	c.(1867-1869)tGt>tAt	p.C623Y	ANKAR_ENST00000438402.2_Missense_Mutation_p.C623Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C623Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C387Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.C552Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	623				C -> Y (in Ref. 3; AAH47413). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTGCTCTCTGTAGGAAGGAT	0.403													G|||	40	0.00798722	0.0008	0.0058	5008	,	,		17427	0.0		0.0258	False		,,,				2504	0.0092				p.C623Y		Atlas-SNP	.											.	ANKAR	184	.	0			c.G1868A						PASS	.	G	TYR/CYS	15,4391	21.2+/-45.6	0,15,2188	145	141	142		1868	3	1	2	dbSNP_132	142	236,8364	95.9+/-157.7	3,230,4067	yes	missense	ANKAR	NM_144708.3	194	3,245,6255	AA,AG,GG		2.7442,0.3404,1.9299	benign	623/1435	190569908	251,12755	2203	4300	6503	SO:0001583	missense	150709	exon8			CTCTCTGTAGGAA	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1868G>A	2.37:g.190569908G>A	ENSP00000427882:p.Cys623Tyr	Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	235	110	0.468085	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	23	0.010531135531135532	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	20	0.026385224274406333	G	15.26	2.781995	0.49891	0.003404	0.027442	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.84	2.97	0.34412	.	0.580099	0.16803	N	0.198888	T	0.30039	0.0752	L	0.33792	1.035	0.40694	D	0.982421	.	.	.	.	.	.	T	0.23762	-1.0179	8	0.35671	T	0.21	-1.9537	7.6426	0.28303	0.4252:0.0:0.5748:0.0	.	.	.	.	Y	623;623;623;552;387	ENSP00000427882:C623Y;ENSP00000313513:C623Y;ENSP00000397243:C623Y;ENSP00000393043:C552Y;ENSP00000281412:C387Y	ENSP00000281412:C387Y	C	+	2	0	ANKAR	190278153	0.095000	0.21747	0.981000	0.43875	0.973000	0.67179	0.169000	0.16641	0.332000	0.23536	-0.345000	0.07892	TGT	G|0.983;A|0.017	0.017	strong		0.403	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		A	190569908	G	A	190569908	3	1	23	1	0	0	0	0	1	0	0	0	623	1377	48	2	1894	2	ANKAR	2	190569908	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	717062	190569908	52629465	731	17187										
NAB1	4664	hgsc.bcm.edu	37	chr2	191550256	191550256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctttgcaaccaagctggcTatgagagactgcagcatgcc	10	12	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:191550256T>C	ENST00000337386.5	+	8	1611	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	AC006460.2_ENST00000411949.1_RNA|AC006460.2_ENST00000428032.1_RNA|NAB1_ENST00000357215.5_Missense_Mutation_p.Y355H|NAB1_ENST00000409641.1_Missense_Mutation_p.Y383H|NAB1_ENST00000545490.1_Missense_Mutation_p.Y124H|NAB1_ENST00000409581.1_Missense_Mutation_p.Y384H|AC006460.2_ENST00000421437.1_RNA	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	384					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCAAGCTGGCTATGAGAGACT	0.468																																					p.Y384H		Atlas-SNP	.											NAB1,NS,carcinoma,-1,2	NAB1	31	2	0			c.T1150C						scavenged	.						69	63	65					2																	191550256		2203	4300	6503	SO:0001583	missense	4664	exon8			GCTGGCTATGAGA		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.1150T>C	2.37:g.191550256T>C	ENSP00000336894:p.Tyr384His	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	203	3	0.0147783	NM_005966	O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.57|14.57	2.573503|2.573503	0.45902|0.45902	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000434473|ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Nab1, C-terminal (1);	.|0.420625	.|0.26642	.|N	.|0.023246	T|T	0.45337|0.45337	0.1337|0.1337	N|N	0.19112|0.19112	0.55|0.55	0.32708|0.32708	N|N	0.511939|0.511939	.|P;P;P	.|0.43231	.|0.763;0.801;0.801	.|P;P;P	.|0.51742	.|0.447;0.678;0.678	T|T	0.53872|0.53872	-0.8377|-0.8377	5|9	.|0.28530	.|T	.|0.3	-0.9421|-0.9421	14.5475|14.5475	0.68041|0.68041	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|355;383;384	.|F8W8J7;B8ZZS2;Q13506	.|.;.;NAB1_HUMAN	P|H	136|384;384;355;383;124	.|.	.|ENSP00000336894:Y384H	L|Y	+|+	2|1	0|0	NAB1|NAB1	191258501|191258501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	2.801000|2.801000	0.47908|0.47908	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	CTA|TAT	.	.	none		0.468	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		C	191550256	T	C	191550256	3	2	23	1	0	0	0	0	1	0	0	0	10131	1522	53	3	1168	3	NAB1	2	191550256	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	980348	191550256	51649117	732	17188										
SDPR	8436	hgsc.bcm.edu	37	chr2	192711385	192711385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattctggatgcccttcacGgagccctccaaactgatctg	8	14	4	1	rs35883486	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:192711385G>A	ENST00000304141.4	-	1	596	c.267C>T	c.(265-267)tcC>tcT	p.S89S	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGCCCTTCACGGAGCCCTCCA	0.582													G|||	97	0.019369	0.0091	0.0144	5008	,	,		20010	0.003		0.0278	False		,,,				2504	0.045				p.S89S		Atlas-SNP	.											SDPR,caecum,carcinoma,0,1	SDPR	67	1	0			c.C267T						PASS	.	G		52,4354	52.3+/-87.9	0,52,2151	110	93	99		267	-3.9	0.9	2	dbSNP_126	99	254,8346	99.3+/-160.8	4,246,4050	no	coding-synonymous	SDPR	NM_004657.5		4,298,6201	AA,AG,GG		2.9535,1.1802,2.3528		89/426	192711385	306,12700	2203	4300	6503	SO:0001819	synonymous_variant	8436	exon1			CTTCACGGAGCCC	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.267C>T	2.37:g.192711385G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	204	105	0.514706	NM_004657		Silent	SNP	ENST00000304141.4	37	CCDS2313.1																																																																																			G|0.977;A|0.023	0.023	strong		0.582	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		A	192711385	G	A	192711385	2	1	23	1	0	0	0	0	0	0	0	1	13970	1103	39	1		1	SDPR	2	192711385	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1161129	192711385	50487988	733	17189										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363504	198363504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatctttggcataagcccgAgtgagatgaggagccagtac	12	9	1	2	rs1050347	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:198363504A>G	ENST00000388968.3	-	2	336	c.69T>C	c.(67-69)acT>acC	p.T23T	HSPE1_ENST00000409729.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Silent_p.T23T|HSPD1_ENST00000345042.2_Silent_p.T23T|HSPE1_ENST00000409468.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	23					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATAAGCCCGAGTGAGATGAG	0.502													A|||	792	0.158147	0.1029	0.1744	5008	,	,		17688	0.2282		0.2117	False		,,,				2504	0.0941				p.T23T		Atlas-SNP	.											.	HSPD1	68	.	0			c.T69C						PASS	.	A	,	492,3914		25,442,1736	57	57	57		69,69	2.4	1	2	dbSNP_86	57	1646,6954		104,1438,2758	no	coding-synonymous,coding-synonymous	HSPD1	NM_002156.4,NM_199440.1	,	129,1880,4494	GG,GA,AA		19.1395,11.1666,16.4386	,	23/574,23/574	198363504	2138,10868	2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			AGCCCGAGTGAGA	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.69T>C	2.37:g.198363504A>G		Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	290	128	0.441379	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			A|0.813;G|0.187	0.187	strong		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		G	198363504	A	G	198363504	2	3	23	1	0	0	0	0	0	0	0	1	7428	291	11	3		3	HSPD1	2	198363504	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5652119	198363504	44835869	734	17190										
PLCL1	5334	hgsc.bcm.edu	37	chr2	198950029	198950029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctatttgtaaatctgttcaAtacagggattttgaactatc	6	6	3	1	rs2228135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:198950029A>G	ENST00000428675.1	+	2	2186	c.1788A>G	c.(1786-1788)caA>caG	p.Q596Q	PLCL1_ENST00000437704.2_Silent_p.Q498Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	596	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATCTGTTCAATACAGGGATT	0.413													G|||	1162	0.232029	0.3578	0.1931	5008	,	,		18872	0.248		0.1909	False		,,,				2504	0.1155				p.Q596Q		Atlas-SNP	.											.	PLCL1	358	.	0			c.A1788G						PASS	.	G		1430,2976	654.7+/-399.8	238,954,1011	69	72	71		1788	1.5	1	2	dbSNP_98	71	1539,7061	741.3+/-407.1	127,1285,2888	no	coding-synonymous	PLCL1	NM_006226.3		365,2239,3899	GG,GA,AA		17.8953,32.4557,22.8279		596/1096	198950029	2969,10037	2203	4300	6503	SO:0001819	synonymous_variant	5334	exon2			TGTTCAATACAGG	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1788A>G	2.37:g.198950029A>G		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																			A|0.767;G|0.233	0.233	strong		0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		G	198950029	A	G	198950029	2	3	23	1	0	0	0	0	0	0	0	1	12039	98	4	2		2	PLCL1	2	198950029	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	586525	198950029	44249344	735	17191										
KCTD18	130535	hgsc.bcm.edu	37	chr2	201355106	201355106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcccccgtgcccaccaggGccgtggctctggaaggtgca	15	15	1	0	rs13018579	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:201355106G>A	ENST00000359878.3	-	7	1508	c.998C>T	c.(997-999)gCc>gTc	p.A333V	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.A333V	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	333			A -> V (in dbSNP:rs13018579). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCCCACCAGGGCCGTGGCTCT	0.642													G|||	497	0.0992412	0.0393	0.1427	5008	,	,		16517	0.002		0.2336	False		,,,				2504	0.1115				p.A333V		Atlas-SNP	.											.	KCTD18	44	.	0			c.C998T						PASS	.	G	VAL/ALA	299,4107	160.3+/-192.7	8,283,1912	44	48	47		998	2.4	0	2	dbSNP_121	47	1952,6648	341.4+/-324.0	238,1476,2586	yes	missense	KCTD18	NM_152387.2	64	246,1759,4498	AA,AG,GG		22.6977,6.7862,17.3074	benign	333/427	201355106	2251,10755	2203	4300	6503	SO:0001583	missense	130535	exon7			ACCAGGGCCGTGG	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.998C>T	2.37:g.201355106G>A	ENSP00000352941:p.Ala333Val	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	67	21	0.313433	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	266	0.12179487179487179	27	0.054878048780487805	65	0.17955801104972377	1	0.0017482517482517483	173	0.22823218997361477	G	11.88	1.770629	0.31320	0.067862	0.226977	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35236	1.32;1.32	4.22	2.38	0.29361	.	1.417830	0.04433	N	0.369665	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.17038	0.02	B	0.17433	0.018	T	0.20505	-1.0273	9	0.05959	T	0.93	0.2009	6.6967	0.23203	0.0926:0.0:0.7314:0.176	rs13018579;rs17532385;rs57796327;rs13018579	333	Q6PI47	KCD18_HUMAN	V	333	ENSP00000352941:A333V;ENSP00000386751:A333V	ENSP00000352941:A333V	A	-	2	0	KCTD18	201063351	0.072000	0.21174	0.000000	0.03702	0.004000	0.04260	2.880000	0.48530	0.404000	0.25506	0.655000	0.94253	GCC	G|0.849;A|0.151	0.151	strong		0.642	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		A	201355106	G	A	201355106	3	1	23	1	0	0	0	0	1	0	0	0	8105	1203	42	2	286	2	KCTD18	2	201355106	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2405077	201355106	41844267	736	17192										
SGOL2	151246	hgsc.bcm.edu	37	chr2	201437328	201437328	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgcaaaaagataaggaaatCatccctggaaacctagaaga	8	8	1	3	rs35987478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:201437328C>A	ENST00000357799.4	+	7	2357	c.2259C>A	c.(2257-2259)atC>atA	p.I753I		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	753					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATAAGGAAATCATCCCTGGAA	0.338													C|||	1058	0.211262	0.1581	0.2017	5008	,	,		17672	0.2917		0.2535	False		,,,				2504	0.1636				p.I753I		Atlas-SNP	.											.	SGOL2	126	.	0			c.C2259A						PASS	.	C	,,	495,3137		25,445,1346	56	52	53		2259,2259,2259	0.8	0	2	dbSNP_126	53	2025,6103		238,1549,2277	no	coding-synonymous,coding-synonymous,coding-synonymous	SGOL2	NM_001160033.1,NM_001160046.1,NM_152524.5	,,	263,1994,3623	AA,AC,CC		24.9139,13.6289,21.4286	,,	753/1261,753/1262,753/1266	201437328	2520,9240	1816	4064	5880	SO:0001819	synonymous_variant	151246	exon7			GGAAATCATCCCT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2259C>A	2.37:g.201437328C>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	83	65	0.783133	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	CCDS42796.1																																																																																			C|0.760;A|0.240	0.240	strong		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		A	201437328	C	A	201437328	2	1	23	1	0	0	0	0	0	0	0	1	14217	816	29	4		4	SGOL2	2	201437328	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	82222	201437328	41762045	737	17193										
AOX1	316	hgsc.bcm.edu	37	chr2	201526330	201526330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttttgatgaaagcattaAcctttcagctgttggatact	8	7	1	2	rs55754655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:201526330A>G	ENST00000374700.2	+	30	3645	c.3404A>G	c.(3403-3405)aAc>aGc	p.N1135S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1135			N -> S (increases homodimerization and turnover number with phenanthridine as substrate; nearly no effect on kinetic parameters with benzaldehyde, phtalazine and chloroquinazolinone as substrate; dbSNP:rs55754655). {ECO:0000269|PubMed:22279051}.		inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAAAGCATTAACCTTTCAGCT	0.408													G|||	550	0.109824	0.2678	0.072	5008	,	,		22079	0.003		0.1213	False		,,,				2504	0.0215				p.N1135S		Atlas-SNP	.											.	AOX1	152	.	0			c.A3404G						PASS	.	G	SER/ASN	1137,3269	715.8+/-408.5	161,815,1227	141	134	136		3404	5.3	0.3	2	dbSNP_129	136	1116,7484	767.4+/-407.6	71,974,3255	yes	missense	AOX1	NM_001159.3	46	232,1789,4482	GG,GA,AA		12.9767,25.8057,17.3228	benign	1135/1339	201526330	2253,10753	2203	4300	6503	SO:0001583	missense	316	exon30			GCATTAACCTTTC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3404A>G	2.37:g.201526330A>G	ENSP00000363832:p.Asn1135Ser	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	99	23	0.232323	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	233	0.10668498168498168	125	0.2540650406504065	21	0.058011049723756904	2	0.0034965034965034965	85	0.11213720316622691	G	6.479	0.456545	0.12283	0.258057	0.129767	ENSG00000138356	ENST00000374700;ENST00000260930	T;T	0.35421	1.31;1.31	5.35	5.35	0.76521	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.167012	0.64402	N	0.000004	T	0.00012	0.0000	N	0.00760	-1.21	0.51233	P	9.00000000000345E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.23583	-1.0184	9	0.02654	T	1	-36.2148	14.7385	0.69434	0.0692:0.0:0.9308:0.0	rs55754655;rs60972007;rs61737010	1135	Q06278	ADO_HUMAN	S	1135;21	ENSP00000363832:N1135S;ENSP00000260930:N21S	ENSP00000260930:N21S	N	+	2	0	AOX1	201234575	1.000000	0.71417	0.251000	0.24312	0.054000	0.15201	3.173000	0.50839	1.644000	0.50603	-0.119000	0.15052	AAC	A|0.848;G|0.152	0.152	strong		0.408	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		G	201526330	A	G	201526330	3	3	23	1	0	0	0	0	1	0	0	0	729	43	2	2	3522	2	AOX1	2	201526330	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	89002	201526330	41673043	738	17194										
CASP10	843	hgsc.bcm.edu	37	chr2	202074207	202074207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggccactgtcccaggctAtgtatcctttcggcatgtgg	11	12	1	0	rs17860405	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:202074207A>G	ENST00000272879.5	+	9	1521	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	CASP10_ENST00000346817.5_Missense_Mutation_p.Y403C|CASP10_ENST00000286186.6_Missense_Mutation_p.Y446C|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.Y379C|CASP10_ENST00000448480.1_Missense_Mutation_p.Y403C	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	446			Y -> C (associated with ALPS2A; does not interfere with apoptosis in a dominant negative manner; dbSNP:rs17860405). {ECO:0000269|PubMed:16446975}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCCCAGGCTATGTATCCTTT	0.507													A|||	64	0.0127796	0.0008	0.0231	5008	,	,		17367	0.0		0.0417	False		,,,				2504	0.0051				p.Y446C		Atlas-SNP	.											.	CASP10	95	.	0			c.A1337G	GRCh37	CM060890	CASP10	M	rs17860405	PASS	.	A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,,CYS/TYR	31,4375	35.2+/-66.4	0,31,2172	108	102	104	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1136,1208,1208,1337,,1337	1	0	2	dbSNP_123	104	322,8278	114.2+/-174.2	6,310,3984	yes	missense,missense,missense,missense,utr-3,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	194,194,194,194,,194	6,341,6156	GG,GA,AA		3.7442,0.7036,2.7141	benign,benign,benign,benign,,benign	379/456,403/479,403/480,446/522,,446/523	202074207	353,12653	2203	4300	6503	SO:0001583	missense	843	exon9			CAGGCTATGTATC	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1337A>G	2.37:g.202074207A>G	ENSP00000272879:p.Tyr446Cys	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	77	7	0.0909091	NM_032977	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	49	0.022435897435897436	0	0.0	11	0.03038674033149171	0	0.0	38	0.05013192612137203	A	10.66	1.413801	0.25465	0.007036	0.037442	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.05	1.01	0.19927	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.208989	0.44285	N	0.000473	T	0.06371	0.0164	M	0.76938	2.355	0.80722	D	1	P;B;P;P;P	0.52692	0.501;0.439;0.955;0.69;0.735	P;B;P;B;B	0.51701	0.482;0.231;0.677;0.411;0.414	T	0.01124	-1.1444	10	0.46703	T	0.11	.	10.3166	0.43740	0.6892:0.0:0.3108:0.0	rs17860405	379;403;446;403;446	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	C	446;446;403;379;403	ENSP00000286186:Y446C;ENSP00000272879:Y446C;ENSP00000237865:Y403C;ENSP00000314599:Y379C;ENSP00000396835:Y403C	ENSP00000272879:Y446C	Y	+	2	0	CASP10	201782452	0.018000	0.18449	0.010000	0.14722	0.115000	0.19883	0.456000	0.21859	0.301000	0.22738	-0.263000	0.10527	TAT	A|0.973;G|0.027	0.027	strong		0.507	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		G	202074207	A	G	202074207	3	3	23	1	0	0	0	0	1	0	0	0	2669	449	16	2	1367	2	CASP10	2	202074207	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	547877	202074207	41125166	739	17195										
CASP8	841	hgsc.bcm.edu	37	chr2	202137432	202137432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaagttggacatcctgaaAagagtctgtgcccaaatcaa	10	8	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:202137432A>G	ENST00000432109.2	+	5	672	c.483A>G	c.(481-483)aaA>aaG	p.K161K	CASP8_ENST00000323492.7_Silent_p.K161K|CASP8_ENST00000358485.4_Silent_p.K220K|CASP8_ENST00000264274.9_Silent_p.K161K|CASP8_ENST00000392259.2_Silent_p.K161K|CASP8_ENST00000392266.3_Silent_p.K161K|CASP8_ENST00000392258.3_Silent_p.K161K|CASP8_ENST00000264275.5_Silent_p.K193K	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	161	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACATCCTGAAAAGAGTCTGTG	0.438										HNSCC(4;0.00038)																											p.K220K	Melanoma(82;831 1348 20716 36952 40159)	Atlas-SNP	.											.	CASP8	272	.	0			c.A660G						PASS	.						154	157	156					2																	202137432		2203	4300	6503	SO:0001819	synonymous_variant	841	exon4			CCTGAAAAGAGTC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.483A>G	2.37:g.202137432A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	107	71	0.663551	NM_001080125	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	CCDS2342.1																																																																																			.	.	none		0.438	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		G	202137432	A	G	202137432	2	3	23	1	0	0	0	0	0	0	0	1	2677	11	1	2		2	CASP8	2	202137432	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	63225	202137432	41061941	740	17196										
CASP8	841	hgsc.bcm.edu	37	chr2	202149589	202149589	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttgagatcaagccccacGatgactgcacagtagagcaa	9	10	1	3	rs1045485	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:202149589G>C	ENST00000432109.2	+	9	1042	c.853G>C	c.(853-855)Gat>Cat	p.D285H	CASP8_ENST00000323492.7_Missense_Mutation_p.D270H|CASP8_ENST00000358485.4_Missense_Mutation_p.D344H|CASP8_ENST00000264274.9_Missense_Mutation_p.D201H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D302H	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	285			D -> H (associated with protection against breast cancer; also associated with a lower risk of cutaneous melanoma; dbSNP:rs1045485). {ECO:0000269|PubMed:11161814, ECO:0000269|PubMed:15601643, ECO:0000269|PubMed:17293864, ECO:0000269|PubMed:18563783, ECO:0000269|PubMed:8755496, ECO:0000269|PubMed:9228018, ECO:0000269|Ref.9}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAAGCCCCACGATGACTGCAC	0.433										HNSCC(4;0.00038)			G|||	264	0.0527157	0.0499	0.0764	5008	,	,		18179	0.001		0.1203	False		,,,				2504	0.0235				p.D344H	Melanoma(82;831 1348 20716 36952 40159)	Atlas-SNP	.											.	CASP8	272	.	0			c.G1030C	GRCh37	CM043455	CASP8	M	rs1045485	PASS	.	G	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	316,4090	169.1+/-199.8	19,278,1906	99	91	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	808,1030,904,853,808	-3.4	0	2	dbSNP_86	94	1111,7489	231.7+/-265.6	68,975,3257	yes	missense,missense,missense,missense,missense	CASP8	NM_001080124.1,NM_001080125.1,NM_001228.4,NM_033355.3,NM_033356.3	81,81,81,81,81	87,1253,5163	CC,CG,GG		12.9186,7.172,10.9719	benign,benign,benign,benign,benign	270/465,344/539,302/497,285/480,270/465	202149589	1427,11579	2203	4300	6503	SO:0001583	missense	841	exon8			CCCCACGATGACT	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.853G>C	2.37:g.202149589G>C	ENSP00000412523:p.Asp285His	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	114	29	0.254386	NM_001080125	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	148	0.06776556776556776	26	0.052845528455284556	35	0.09668508287292818	0	0.0	87	0.11477572559366754	G	9.874	1.199660	0.22121	0.07172	0.129186	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.6	-3.42	0.04825	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.930924	0.09276	N	0.824512	T	0.00144	0.0004	N	0.26162	0.8	0.80722	P	0.0	B;B;B;B;B	0.33103	0.129;0.0;0.002;0.009;0.397	B;B;B;B;B	0.31390	0.052;0.002;0.009;0.012;0.129	T	0.27839	-1.0062	9	0.40728	T	0.16	.	8.7636	0.34689	0.4585:0.1164:0.4251:0.0	rs1045485;rs3185368;rs4134559;rs17649729;rs17860425;rs1045485	201;344;285;270;302	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	H	270;201;285;302;344;270;64	ENSP00000376091:D270H;ENSP00000264274:D201H;ENSP00000412523:D285H;ENSP00000264275:D302H;ENSP00000351273:D344H;ENSP00000325722:D270H;ENSP00000394434:D64H	ENSP00000264274:D201H	D	+	1	0	CASP8	201857834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.532000	0.06164	-0.187000	0.10516	-1.306000	0.01317	GAT	G|0.901;C|0.099	0.099	strong		0.433	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		C	202149589	G	C	202149589	3	2	23	1	0	0	0	0	1	0	0	0	2677	1058	37	4	1160	4	CASP8	2	202149589	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12157	202149589	41049784	741	17197										
ALS2CR12	130540	hgsc.bcm.edu	37	chr2	202154200	202154200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagatgaatgttctcttcCgtcaggatctgtatggtgtg	11	7	4	2	rs17468277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:202154200C>T	ENST00000286190.5	-	13	1237	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	ALS2CR12_ENST00000439709.1_Silent_p.T374T|ALS2CR12_ENST00000405148.2_Silent_p.T397T|ALS2CR12_ENST00000392257.3_Silent_p.T374T			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	397					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TGTTCTCTTCCGTCAGGATCT	0.423													C|||	254	0.0507188	0.0431	0.0749	5008	,	,		22722	0.001		0.1203	False		,,,				2504	0.0235				p.T397T		Atlas-SNP	.											.	ALS2CR12	54	.	0			c.G1191A						PASS	.	C	,	294,4112	161.1+/-193.3	18,258,1927	149	148	148		1122,1191	-7.1	0	2	dbSNP_123	148	1110,7490	230.8+/-265.0	67,976,3257	no	coding-synonymous,coding-synonymous	ALS2CR12	NM_001127391.1,NM_139163.2	,	85,1234,5184	TT,TC,CC		12.907,6.6727,10.795	,	374/423,397/446	202154200	1404,11602	2203	4300	6503	SO:0001819	synonymous_variant	130540	exon14			CTCTTCCGTCAGG	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1191G>A	2.37:g.202154200C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	139	40	0.28777	NM_139163	G5E9S3|Q53TT6|Q8N1B6	Silent	SNP	ENST00000286190.5	37	CCDS2346.1																																																																																			C|0.910;T|0.090	0.090	strong		0.423	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		T	202154200	C	T	202154200	2	4	23	1	0	0	0	0	0	0	0	1	553	639	23	1		1	ALS2CR12	2	202154200	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4611	202154200	41045173	742	17198										
NOP58	51602	hgsc.bcm.edu	37	chr2	203139844	203139844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttattacaggttctaaaTgagaagaaacttcaagaggt	8	4	2	3	rs80282360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203139844T>C	ENST00000264279.5	+	2	280	c.54T>C	c.(52-54)aaT>aaC	p.N18N	SNORD70_ENST00000391007.1_RNA|SNORD70_ENST00000391232.1_RNA|NOP58_ENST00000467734.1_Intron	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	18					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGGTTCTAAATGAGAAGAAAC	0.284													T|||	618	0.123403	0.0045	0.1427	5008	,	,		17571	0.123		0.1362	False		,,,				2504	0.2577				p.N18N		Atlas-SNP	.											NOP58,NS,carcinoma,0,1	NOP58	41	1	0			c.T54C						PASS	.	T		106,4286	72.0+/-110.0	4,98,2094	32	35	34		54	5.1	1	2	dbSNP_131	34	1007,7561	207.3+/-249.1	55,897,3332	no	coding-synonymous	NOP58	NM_015934.3		59,995,5426	CC,CT,TT		11.753,2.4135,8.588		18/530	203139844	1113,11847	2196	4284	6480	SO:0001819	synonymous_variant	51602	exon2			TCTAAATGAGAAG		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.54T>C	2.37:g.203139844T>C		Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	186	150	0.806452	NM_015934	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	37	CCDS2353.1																																																																																			T|0.904;C|0.096	0.096	strong		0.284	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		C	203139844	T	C	203139844	2	2	23	1	0	0	0	0	0	0	0	1	10540	1461	51	2		2	NOP58	2	203139844	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	985644	203139844	40059529	743	17199										
NOP58	51602	hgsc.bcm.edu	37	chr2	203155936	203155936	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcagctgcagagatatcAatgggaacagaggtttcaga	12	6	2	3	rs3731700	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203155936A>C	ENST00000264279.5	+	8	949	c.723A>C	c.(721-723)tcA>tcC	p.S241S	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	241				KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084). {ECO:0000305}.	cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CAGAGATATCAATGGGAACAG	0.428													A|||	623	0.124401	0.0053	0.1427	5008	,	,		17596	0.123		0.1402	False		,,,				2504	0.2577				p.S241S		Atlas-SNP	.											.	NOP58	41	.	0			c.A723C						PASS	.	A		109,4297	82.9+/-121.4	4,101,2098	116	119	118		723	-11.3	0.8	2	dbSNP_107	118	1046,7554	221.5+/-258.9	59,928,3313	no	coding-synonymous	NOP58	NM_015934.3		63,1029,5411	CC,CA,AA		12.1628,2.4739,8.8805		241/530	203155936	1155,11851	2203	4300	6503	SO:0001819	synonymous_variant	51602	exon8			GATATCAATGGGA		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.723A>C	2.37:g.203155936A>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	95	63	0.663158	NM_015934	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	37	CCDS2353.1																																																																																			A|0.904;C|0.096	0.096	strong		0.428	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		C	203155936	A	C	203155936	2	2	23	1	0	0	0	0	0	0	0	1	10540	117	5	5		5	NOP58	2	203155936	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	16092	203155936	40043437	744	17200										
BMPR2	659	hgsc.bcm.edu	37	chr2	203421199	203421199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcccagaagagcacagagGcctaattctctggatctttc	9	11	2	3	rs1061157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203421199G>A	ENST00000374580.4	+	12	3350	c.2811G>A	c.(2809-2811)agG>agA	p.R937R	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	937					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GAGCACAGAGGCCTAATTCTC	0.483													G|||	583	0.116414	0.0045	0.1052	5008	,	,		19640	0.1042		0.1362	False		,,,				2504	0.2679				p.R937R		Atlas-SNP	.											.	BMPR2	142	.	0			c.G2811A						PASS	.	G		108,4298	82.4+/-120.9	3,102,2098	85	91	89		2811	4.4	1	2	dbSNP_86	89	1085,7515	226.4+/-262.1	57,971,3272	no	coding-synonymous	BMPR2	NM_001204.6		60,1073,5370	AA,AG,GG		12.6163,2.4512,9.1727		937/1039	203421199	1193,11813	2203	4300	6503	SO:0001819	synonymous_variant	659	exon12			ACAGAGGCCTAAT	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2811G>A	2.37:g.203421199G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	35	30	0.857143	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	CCDS33361.1																																																																																			G|0.907;A|0.093	0.093	strong		0.483	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		A	203421199	G	A	203421199	2	1	23	1	0	0	0	0	0	0	0	1	1471	1194	42	2		2	BMPR2	2	203421199	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	265263	203421199	39778174	745	17201										
WDR12	55759	hgsc.bcm.edu	37	chr2	203765756	203765756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttgaacttactgatgagaTgttctccatttccatgtgtt	7	7	1	3	rs35212307	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203765756T>C	ENST00000261015.4	-	3	972	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACTGATGAGATGTTCTCCATT	0.373													T|||	230	0.0459265	0.0136	0.0735	5008	,	,		18111	0.0159		0.1302	False		,,,				2504	0.0143				p.I75V		Atlas-SNP	.											.	WDR12	35	.	0			c.A223G						PASS	.	T	VAL/ILE	149,4257	103.0+/-141.5	2,145,2056	124	99	108		223	4.7	1	2	dbSNP_126	108	1117,7483	231.2+/-265.3	71,975,3254	yes	missense	WDR12	NM_018256.3	29	73,1120,5310	CC,CT,TT		12.9884,3.3818,9.734	benign	75/424	203765756	1266,11740	2203	4300	6503	SO:0001583	missense	55759	exon3			ATGAGATGTTCTC	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"WD repeat domain containing"	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.223A>G	2.37:g.203765756T>C	ENSP00000261015:p.Ile75Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	93	20	0.215054	NM_018256		Missense_Mutation	SNP	ENST00000261015.4	37	CCDS2356.1	158	0.07234432234432235	7	0.014227642276422764	34	0.09392265193370165	13	0.022727272727272728	104	0.13720316622691292	T	16.16	3.045462	0.55110	0.033818	0.129884	ENSG00000138442	ENST00000261015	T	0.56103	0.48	5.83	4.69	0.59074	WD40 repeat-like-containing domain (1);	0.043242	0.85682	D	0.000000	T	0.00356	0.0011	L	0.45352	1.415	0.09310	P	0.99999477709	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.06588	-1.0818	9	0.30854	T	0.27	-12.1352	11.3154	0.49388	0.0:0.0707:0.0:0.9293	rs35212307;rs35212307	75;75	Q53T99;Q9GZL7	.;WDR12_HUMAN	V	75	ENSP00000261015:I75V	ENSP00000261015:I75V	I	-	1	0	WDR12	203474001	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.288000	0.72679	2.224000	0.72417	0.477000	0.44152	ATC	T|0.919;C|0.081	0.081	strong		0.373	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		C	203765756	T	C	203765756	3	2	23	1	0	0	0	0	1	0	0	0	17271	1464	51	2	1092	2	WDR12	2	203765756	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	344557	203765756	39433617	746	17202										
ALS2CR8	79800	hgsc.bcm.edu	37	chr2	203846817	203846817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcagttacaaccaaggtAcacctctcctgatgaatcac	6	12	2	2	rs72932557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203846817A>T	ENST00000402905.3	+	15	2033	c.1712A>T	c.(1711-1713)tAc>tTc	p.Y571F	WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.Y469F|CARF_ENST00000320443.8_Missense_Mutation_p.Y571F|CARF_ENST00000428585.1_Missense_Mutation_p.Y495F|CARF_ENST00000438828.2_Missense_Mutation_p.Y571F|CARF_ENST00000545262.1_Missense_Mutation_p.Y495F|CARF_ENST00000545253.1_Missense_Mutation_p.Y483F	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	571					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAACCAAGGTACACCTCTCCT	0.373													T|||	236	0.0471246	0.0174	0.0749	5008	,	,		18007	0.0159		0.1302	False		,,,				2504	0.0143				p.Y571F		Atlas-SNP	.											ALS2CR8,rectum,carcinoma,-1,1	ALS2CR8	56	1	0			c.A1712T						PASS	.	T	PHE/TYR,PHE/TYR	130,3558		2,126,1716	59	55	56		1712,1712	4.3	0.3	2	dbSNP_130	56	1055,7155		68,919,3118	yes	missense,missense	ALS2CR8	NM_001104586.1,NM_024744.14	22,22	70,1045,4834	TT,TA,AA		12.8502,3.5249,9.9597	benign,benign	571/726,571/726	203846817	1185,10713	1844	4105	5949	SO:0001583	missense	79800	exon16			CAAGGTACACCTC	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1712A>T	2.37:g.203846817A>T	ENSP00000384006:p.Tyr571Phe	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	132	35	0.265152	NM_024744	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	160	0.07326007326007326	9	0.018292682926829267	34	0.09392265193370165	13	0.022727272727272728	104	0.13720316622691292	T	3.052	-0.195095	0.06259	0.035249	0.128502	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.45	4.26	0.50523	.	0.229295	0.37715	N	0.001971	T	0.00073	0.0002	N	0.00237	-1.79	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24012	-1.0172	8	0.02654	T	1	0.0747	8.9639	0.35865	0.297:0.0:0.0:0.703	.	483;495;571	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	F	571;469;495;483;495;571;571	.	ENSP00000316224:Y571F	Y	+	2	0	ALS2CR8	203555062	0.839000	0.29477	0.278000	0.24718	0.867000	0.49689	0.917000	0.28665	0.341000	0.23771	-0.257000	0.10917	TAC	A|0.910;T|0.090	0.090	strong		0.373	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		T	203846817	A	T	203846817	3	4	23	1	0	0	0	0	1	0	0	0	555	391	14	5	1762	5	ALS2CR8	2	203846817	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	81061	203846817	39352556	747	17203										
NBEAL1	65065	hgsc.bcm.edu	37	chr2	203990789	203990789	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttattcactcccatggagtTgcaactcttggtgctttact	7	11	2	0	rs72934556	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:203990789T>G	ENST00000449802.1	+	20	3204	c.2871T>G	c.(2869-2871)gtT>gtG	p.V957V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	957										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCCATGGAGTTGCAACTCTTG	0.378													T|||	194	0.038738	0.0061	0.0692	5008	,	,		15752	0.001		0.1223	False		,,,				2504	0.0143				p.V957V		Atlas-SNP	.											.	NBEAL1	266	.	0			c.T2871G						PASS	.	T		34,1350		0,34,658	183	149	160		2871	3.2	1	2	dbSNP_130	160	373,2809		20,333,1238	no	coding-synonymous	NBEAL1	NM_001114132.1		20,367,1896	GG,GT,TT		11.7222,2.4566,8.9137		957/2695	203990789	407,4159	692	1591	2283	SO:0001819	synonymous_variant	65065	exon20			TGGAGTTGCAACT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.2871T>G	2.37:g.203990789T>G		Somatic	400	0	0		WXS	Illumina HiSeq	Phase_I	216	44	0.203704	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			T|0.923;G|0.077	0.077	strong		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	203990789	T	G	203990789	2	3	23	1	0	0	0	0	0	0	0	1	10188	1799	63	5		5	NBEAL1	2	203990789	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	143972	203990789	39208584	748	17204										
PARD3B	117583	hgsc.bcm.edu	37	chr2	205829991	205829991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagtggccgcccaactggcCgcatttaagccaattggtgg	13	11	0	0	rs236843	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:205829991C>T	ENST00000406610.2	+	3	546	c.339C>T	c.(337-339)gcC>gcT	p.A113A	PARD3B_ENST00000462231.1_Silent_p.A113A|PARD3B_ENST00000349953.3_Silent_p.A113A|PARD3B_ENST00000358768.2_Silent_p.A113A|PARD3B_ENST00000351153.1_Silent_p.A113A	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	113					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCAACTGGCCGCATTTAAGC	0.473													T|||	4025	0.803714	0.9629	0.7536	5008	,	,		15327	0.7718		0.6153	False		,,,				2504	0.8507				p.A113A		Atlas-SNP	.											PARD3B_ENST00000358768,colon,carcinoma,0,3	PARD3B	314	3	0			c.C339T						PASS	.	T	,,	3248,446		1426,396,25	76	79	78		339,339,339	4.6	0.9	2	dbSNP_79	78	4646,3548		1335,1976,786	no	coding-synonymous,coding-synonymous,coding-synonymous	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	,,	2761,2372,811	TT,TC,CC		43.3,12.0736,33.5969	,,	113/1137,113/1144,113/1105	205829991	7894,3994	1847	4097	5944	SO:0001819	synonymous_variant	117583	exon3			ACTGGCCGCATTT	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.339C>T	2.37:g.205829991C>T		Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	102	78	0.764706	NM_205863	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				C|0.267;T|0.732	0.732	strong		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		T	205829991	C	T	205829991	2	4	23	1	0	0	0	0	0	0	0	1	11444	639	23	1		1	PARD3B	2	205829991	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1839202	205829991	37369382	749	17205										
INO80D	54891	hgsc.bcm.edu	37	chr2	206874307	206874307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcaccactgaccggatgTgagaggcctccactggcagt	14	12	0	2	rs144598064	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:206874307T>C	ENST00000403263.1	-	9	2158	c.1754A>G	c.(1753-1755)cAc>cGc	p.H585R	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	585					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGACCGGATGTGAGAGGCCTC	0.522													T|||	7	0.00139776	0.0008	0.0014	5008	,	,		15621	0.0		0.005	False		,,,				2504	0.0				p.H585R		Atlas-SNP	.											.	INO80D	134	.	0			c.A1754G						PASS	.	T	ARG/HIS	6,3914		0,6,1954	70	76	74		1754	-0.7	0.1	2	dbSNP_134	74	81,8247		0,81,4083	yes	missense	INO80D	NM_017759.4	29	0,87,6037	CC,CT,TT		0.9726,0.1531,0.7103	benign	585/1028	206874307	87,12161	1960	4164	6124	SO:0001583	missense	54891	exon9			CGGATGTGAGAGG		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1754A>G	2.37:g.206874307T>C	ENSP00000384198:p.His585Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	59	16	0.271186	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	7.154	0.584297	0.13749	0.001531	0.009726	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.30182	1.54	5.8	-0.695	0.11291	.	0.655303	0.16801	N	0.198942	T	0.10294	0.0252	N	0.22421	0.69	0.19575	N	0.999969	B	0.02656	0.0	B	0.01281	0.0	T	0.28004	-1.0057	10	0.13108	T	0.6	.	5.5793	0.17241	0.0:0.2813:0.1337:0.585	.	585	Q53TQ3-2	.	R	585	ENSP00000384198:H585R	ENSP00000233270:H585R	H	-	2	0	INO80D	206582552	1.000000	0.71417	0.149000	0.22428	0.362000	0.29581	1.785000	0.38684	-0.103000	0.12175	-0.250000	0.11733	CAC	T|0.997;C|0.003	0.003	strong		0.522	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		C	206874307	T	C	206874307	3	2	23	1	0	0	0	0	1	0	0	0	7749	1696	59	2	1341	2	INO80D	2	206874307	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1044316	206874307	36325066	750	17206										
NDUFS1	4719	hgsc.bcm.edu	37	chr2	207008763	207008763	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attccagctacgcgagagagCgcatcctcccaagaagtata	9	12	0	2	rs1127566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207008763C>A	ENST00000233190.6	-	10	1232	c.966G>T	c.(964-966)gcG>gcT	p.A322A	NDUFS1_ENST00000432169.1_Silent_p.A211A|NDUFS1_ENST00000423725.1_Silent_p.A265A|NDUFS1_ENST00000455934.2_Silent_p.A336A|NDUFS1_ENST00000440274.1_Silent_p.A286A|NDUFS1_ENST00000457011.1_Silent_p.A206A|NDUFS1_ENST00000449699.1_Silent_p.A322A	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	322					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.A322A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCGAGAGAGCGCATCCTCCC	0.388													C|||	2315	0.46226	0.6475	0.5778	5008	,	,		18330	0.2609		0.4831	False		,,,				2504	0.316				p.A336A		Atlas-SNP	.											NDUFS1,NS,carcinoma,0,1	NDUFS1	82	1	1	Substitution - coding silent(1)	prostate(1)	c.G1008T						PASS	.	C	,,,,	2800,1606	664.4+/-401.4	896,1008,299	104	100	102		858,633,795,1008,966	-1	1	2	dbSNP_86	102	3828,4772	538.9+/-383.5	857,2114,1329	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDUFS1	NM_001199981.1,NM_001199982.1,NM_001199983.1,NM_001199984.1,NM_005006.6	,,,,	1753,3122,1628	AA,AC,CC		44.5116,36.4503,49.0389	,,,,	286/692,211/617,265/671,336/742,322/728	207008763	6628,6378	2203	4300	6503	SO:0001819	synonymous_variant	4719	exon10			AGAGAGCGCATCC		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.966G>T	2.37:g.207008763C>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	46	36	0.782609	NM_001199984	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																			C|0.495;A|0.505	0.505	strong		0.388	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		A	207008763	C	A	207008763	2	1	23	1	0	0	0	0	0	0	0	1	10291	755	27	4		4	NDUFS1	2	207008763	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	134456	207008763	36190610	751	17207										
GPR1	2825	hgsc.bcm.edu	37	chr2	207041053	207041053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttggaacttcttactaaTtaggacataaaggatggggt	11	5	1	0	rs3732083	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207041053T>C	ENST00000407325.2	-	3	1281	c.919A>G	c.(919-921)Att>Gtt	p.I307V	GPR1_ENST00000437420.1_Missense_Mutation_p.I307V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	307			I -> V (in dbSNP:rs3732083). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTTACTAATTAGGACATAA	0.488													T|||	2316	0.46246	0.6483	0.5735	5008	,	,		20495	0.2579		0.4831	False		,,,				2504	0.3221				p.I307V		Atlas-SNP	.											.	GPR1	38	.	0			c.A919G						PASS	.	T	VAL/ILE,VAL/ILE	2780,1626	662.2+/-401.0	882,1016,305	101	100	100		919,919	5.7	1	2	dbSNP_107	100	3870,4730	542.9+/-384.3	881,2108,1311	yes	missense,missense	GPR1	NM_001098199.1,NM_005279.3	29,29	1763,3124,1616	CC,CT,TT		45.0,36.9042,48.8698	benign,benign	307/356,307/356	207041053	6650,6356	2203	4300	6503	SO:0001583	missense	2825	exon3			TACTAATTAGGAC		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.919A>G	2.37:g.207041053T>C	ENSP00000384345:p.Ile307Val	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	100	86	0.86	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	1029	0.47115384615384615	308	0.6260162601626016	209	0.5773480662983426	144	0.2517482517482518	368	0.48548812664907653	T	10.35	1.325180	0.24080	0.630958	0.45	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.36699	1.24;1.24	5.7	5.7	0.88788	.	0.127093	0.53938	D	0.000051	T	0.00012	0.0000	N	0.08118	0	0.25801	P	0.9845058	B	0.23128	0.08	B	0.14578	0.011	T	0.35351	-0.9792	9	0.35671	T	0.21	.	12.4853	0.55868	0.0:0.0:0.1394:0.8606	rs3732083;rs52828782;rs61202419;rs3732083	307	P46091	GPR1_HUMAN	V	307	ENSP00000384345:I307V;ENSP00000397535:I307V	ENSP00000384345:I307V	I	-	1	0	GPR1	206749298	1.000000	0.71417	0.995000	0.50966	0.599000	0.36880	3.455000	0.52993	2.177000	0.69029	0.533000	0.62120	ATT	T|0.502;C|0.498	0.498	strong		0.488	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		C	207041053	T	C	207041053	3	2	23	1	0	0	0	0	1	0	0	0	6621	1493	52	2	152	2	GPR1	2	207041053	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	32290	207041053	36158320	752	17208										
GPR1	2825	hgsc.bcm.edu	37	chr2	207041441	207041441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgattattgaactccacagtGtcccggaagtacagggcagg	12	9	0	2	rs3732082	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207041441G>A	ENST00000407325.2	-	3	893	c.531C>T	c.(529-531)gaC>gaT	p.D177D	GPR1_ENST00000437420.1_Silent_p.D177D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	177					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ACTCCACAGTGTCCCGGAAGT	0.433													G|||	1729	0.345248	0.4531	0.3112	5008	,	,		20700	0.2569		0.3738	False		,,,				2504	0.2853				p.D177D		Atlas-SNP	.											.	GPR1	38	.	0			c.C531T						PASS	.	G	,	1959,2447	546.9+/-377.1	446,1067,690	77	79	78		531,531	-1.2	0.6	2	dbSNP_107	78	2983,5617	460.2+/-365.1	530,1923,1847	no	coding-synonymous,coding-synonymous	GPR1	NM_001098199.1,NM_005279.3	,	976,2990,2537	AA,AG,GG		34.686,44.4621,37.9978	,	177/356,177/356	207041441	4942,8064	2203	4300	6503	SO:0001819	synonymous_variant	2825	exon3			CACAGTGTCCCGG		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.531C>T	2.37:g.207041441G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	54	43	0.796296	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Silent	SNP	ENST00000407325.2	37	CCDS2368.1																																																																																			G|0.626;A|0.374	0.374	strong		0.433	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		A	207041441	G	A	207041441	2	1	23	1	0	0	0	0	0	0	0	1	6621	1368	48	2		2	GPR1	2	207041441	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	388	207041441	36157932	753	17209										
GPR1	2825	hgsc.bcm.edu	37	chr2	207041602	207041602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgtcaggaaaaaaacacTggcaaacatgttcaactggg	9	9	2	0	rs138365581	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207041602T>C	ENST00000407325.2	-	3	732	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	GPR1_ENST00000437420.1_Missense_Mutation_p.S124G	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	124					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAAAAAACACTGGCAAACATG	0.483													T|||	8	0.00159744	0.0008	0.0014	5008	,	,		21149	0.0		0.006	False		,,,				2504	0.0				p.S124G		Atlas-SNP	.											.	GPR1	38	.	0			c.A370G						PASS	.	T	GLY/SER,GLY/SER	6,4400	11.4+/-27.6	0,6,2197	114	106	109		370,370	5.8	1	2	dbSNP_134	109	77,8523	44.9+/-103.4	0,77,4223	yes	missense,missense	GPR1	NM_001098199.1,NM_005279.3	56,56	0,83,6420	CC,CT,TT		0.8953,0.1362,0.6382	probably-damaging,probably-damaging	124/356,124/356	207041602	83,12923	2203	4300	6503	SO:0001583	missense	2825	exon3			AAACACTGGCAAA		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.370A>G	2.37:g.207041602T>C	ENSP00000384345:p.Ser124Gly	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	24	0.252632	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	T	24.7	4.558336	0.86231	0.001362	0.008953	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76302	-0.3009	10	0.87932	D	0	.	16.2311	0.82343	0.0:0.0:0.0:1.0	.	124	P46091	GPR1_HUMAN	G	124	ENSP00000384345:S124G;ENSP00000397535:S124G;ENSP00000414836:S124G;ENSP00000391146:S124G;ENSP00000414524:S124G	ENSP00000384345:S124G	S	-	1	0	GPR1	206749847	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.907000	0.87430	2.234000	0.73211	0.528000	0.53228	AGT	T|0.996;C|0.004	0.004	strong		0.483	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		C	207041602	T	C	207041602	3	2	23	1	0	0	0	0	1	0	0	0	6621	1580	55	3	701	3	GPR1	2	207041602	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	161	207041602	36157771	754	17210										
MDH1B	130752	hgsc.bcm.edu	37	chr2	207619779	207619779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagtatggctttcgcttcAccttccacccccagcgccac	7	19	1	0	rs59358632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207619779A>G	ENST00000374412.3	-	5	1139	c.864T>C	c.(862-864)ggT>ggC	p.G288G	MDH1B_ENST00000454776.2_Silent_p.G288G|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Silent_p.G190G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	288					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTTCGCTTCACCTTCCACCC	0.428													A|||	573	0.114417	0.2595	0.0548	5008	,	,		19768	0.0526		0.0586	False		,,,				2504	0.0818				p.G288G	Pancreas(76;29 1355 28675 37177 51207)	Atlas-SNP	.											.	MDH1B	89	.	0			c.T864C						PASS	.	A		1059,3347	386.5+/-326.1	130,799,1274	92	85	87		864	-5.9	0	2	dbSNP_129	87	649,7951	165.8+/-217.9	31,587,3682	no	coding-synonymous	MDH1B	NM_001039845.1		161,1386,4956	GG,GA,AA		7.5465,24.0354,13.1324		288/519	207619779	1708,11298	2203	4300	6503	SO:0001819	synonymous_variant	130752	exon5			CGCTTCACCTTCC		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.864T>C	2.37:g.207619779A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	124	28	0.225806	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	CCDS33365.1																																																																																			A|0.884;G|0.116	0.116	strong		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		G	207619779	A	G	207619779	2	3	23	1	0	0	0	0	0	0	0	1	9409	146	6	2		2	MDH1B	2	207619779	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	578177	207619779	35579594	755	17211										
FASTKD2	22868	hgsc.bcm.edu	37	chr2	207631461	207631461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaagtgtttcagtggagaGcaaaatgaataacaaagcgg	13	4	1	2	rs3762568	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207631461G>A	ENST00000236980.6	+	2	392	c.44G>A	c.(43-45)aGc>aAc	p.S15N	MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S15N|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S15N	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	15			S -> N (in dbSNP:rs3762568).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCAGTGGAGAGCAAAATGAAT	0.403													G|||	579	0.115615	0.264	0.0562	5008	,	,		16349	0.0516		0.0586	False		,,,				2504	0.0818				p.S15N		Atlas-SNP	.											.	FASTKD2	49	.	0			c.G44A						PASS	.	G	ASN/SER,ASN/SER,ASN/SER	1075,3331	379.9+/-323.5	136,803,1264	63	68	66		44,44,44	1	0.2	2	dbSNP_107	66	652,7948	164.2+/-216.6	31,590,3679	yes	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	46,46,46	167,1393,4943	AA,AG,GG		7.5814,24.3985,13.2785	possibly-damaging,possibly-damaging,possibly-damaging	15/711,15/711,15/711	207631461	1727,11279	2203	4300	6503	SO:0001583	missense	22868	exon2			TGGAGAGCAAAAT	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.44G>A	2.37:g.207631461G>A	ENSP00000236980:p.Ser15Asn	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	128	34	0.265625	NM_001136193	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	211	0.09661172161172162	121	0.2459349593495935	23	0.06353591160220995	27	0.0472027972027972	40	0.052770448548812667	G	11.96	1.794198	0.31777	0.243985	0.075814	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.51325	2.38;0.71;2.38;2.38	4.85	0.971	0.19698	.	0.242367	0.29233	N	0.012757	T	0.00012	0.0000	L	0.46157	1.445	0.48135	P	4.0200000000001346E-4	B;B	0.13594	0.008;0.005	B;B	0.16289	0.015;0.006	T	0.10132	-1.0643	9	0.87932	D	0	-0.4365	4.75	0.13056	0.252:0.0:0.5982:0.1498	rs3762568;rs52824953;rs3762568	15;15	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	N	15	ENSP00000236980:S15N;ENSP00000409927:S15N;ENSP00000385990:S15N;ENSP00000384929:S15N	ENSP00000236980:S15N	S	+	2	0	FASTKD2	207339706	0.686000	0.27661	0.194000	0.23346	0.831000	0.47069	-0.204000	0.09425	-0.001000	0.14495	0.491000	0.48974	AGC	G|0.885;A|0.115	0.115	strong		0.403	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		A	207631461	G	A	207631461	3	1	23	1	0	0	0	0	1	0	0	0	5686	971	34	2	46	2	FASTKD2	2	207631461	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11682	207631461	35567912	756	17212										
CPO	130749	hgsc.bcm.edu	37	chr2	207833983	207833983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctgagggacagtggaacAtatgggtttgttctgccaga	15	6	1	2	rs7582305	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:207833983A>G	ENST00000272852.3	+	9	994	c.948A>G	c.(946-948)acA>acG	p.T316T		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	316						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ACAGTGGAACATATGGGTTTG	0.512													A|||	1443	0.288139	0.3714	0.2003	5008	,	,		19868	0.2589		0.3032	False		,,,				2504	0.2526				p.T316T		Atlas-SNP	.											CPO,NS,carcinoma,+2,1	CPO	42	1	0			c.A948G						PASS	.	A		1560,2846	489.4+/-361.5	292,976,935	143	127	132		948	-10.3	0	2	dbSNP_116	132	2629,5971	424.1+/-354.6	404,1821,2075	no	coding-synonymous	CPO	NM_173077.2		696,2797,3010	GG,GA,AA		30.5698,35.4063,32.2082		316/375	207833983	4189,8817	2203	4300	6503	SO:0001819	synonymous_variant	130749	exon9			TGGAACATATGGG		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.948A>G	2.37:g.207833983A>G		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	116	71	0.612069	NM_173077	Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	CCDS2372.1																																																																																			A|0.685;G|0.315	0.315	strong		0.512	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		G	207833983	A	G	207833983	2	3	23	1	0	0	0	0	0	0	0	1	3820	204	8	2		2	CPO	2	207833983	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	202522	207833983	35365390	757	17213										
FAM119A	151194	hgsc.bcm.edu	37	chr2	208478055	208478055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccccaaattttgtccccaAgtcagctccttaacaacagt	4	15	1	0	rs17520056	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:208478055A>G	ENST00000411432.1	-	4	588	c.372T>C	c.(370-372)acT>acC	p.T124T	METTL21A_ENST00000426075.1_Silent_p.T124T|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000442521.1_Silent_p.T124T|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000406927.2_Silent_p.T124T|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000448007.2_Silent_p.T124T|METTL21A_ENST00000272839.3_Silent_p.T142T	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	124					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.T124T(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TTTGTCCCCAAGTCAGCTCCT	0.368													A|||	1741	0.347644	0.233	0.3617	5008	,	,		20308	0.372		0.3072	False		,,,				2504	0.5092				p.T124T		Atlas-SNP	.											METTL21A,NS,carcinoma,0,1	METTL21A	24	1	1	Substitution - coding silent(1)	stomach(1)	c.T372C						PASS	.	A	,	1099,3307	392.8+/-328.6	138,823,1242	83	83	83		372,372	-5	0.9	2	dbSNP_123	83	2724,5876	432.7+/-357.2	427,1870,2003	no	coding-synonymous,coding-synonymous	METTL21A	NM_001127395.1,NM_145280.4	,	565,2693,3245	GG,GA,AA		31.6744,24.9433,29.3941	,	124/219,124/219	208478055	3823,9183	2203	4300	6503	SO:0001819	synonymous_variant	151194	exon4			TCCCCAAGTCAGC	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.372T>C	2.37:g.208478055A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	61	43	0.704918	NM_145280	Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	CCDS2376.1																																																																																			A|0.705;G|0.295	0.295	strong		0.368	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		G	208478055	A	G	208478055	2	3	23	1	0	0	0	0	0	0	0	1	5413	59	3	3		3	FAM119A	2	208478055	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	644072	208478055	34721318	758	17214										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209168942	209168942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgacagtgactcagtgaaCtccgtggaaggacactctga	11	12	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:209168942C>T	ENST00000264380.4	+	11	1526	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	PIKFYVE_ENST00000308862.6_Silent_p.N370N|PIKFYVE_ENST00000407449.1_Silent_p.N456N|PIKFYVE_ENST00000392202.3_Silent_p.N359N	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	456					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTCAGTGAACTCCGTGGAAG	0.443																																					p.N456N		Atlas-SNP	.											.	PIKFYVE	223	.	0			c.C1368T						PASS	.						125	120	122					2																	209168942		2203	4300	6503	SO:0001819	synonymous_variant	200576	exon11			AGTGAACTCCGTG	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1368C>T	2.37:g.209168942C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	59	42	0.711864	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																			.	.	none		0.443	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209168942	C	T	209168942	2	4	23	1	0	0	0	0	0	0	0	1	11924	564	20	2		2	PIKFYVE	2	209168942	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	690887	209168942	34030431	759	17215										
CPS1	1373	hgsc.bcm.edu	37	chr2	211456639	211456639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctatgccttggacaacacCctccctgctggctggaaacc	10	15	0	0	rs386654705|rs2229589	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:211456639C>T	ENST00000233072.5	+	10	1228	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	CPS1_ENST00000430249.2_Silent_p.T350T|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	344	Glutamine amidotransferase type-1.		T -> A (in dbSNP:rs1047883). {ECO:0000269|PubMed:12853138, ECO:0000269|PubMed:9711878, ECO:0000269|Ref.11}.|T -> S (in dbSNP:rs1047883).		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGACAACACCCTCCCTGCTG	0.433													C|||	2961	0.591254	0.6679	0.4914	5008	,	,		16517	0.5585		0.5646	False		,,,				2504	0.6196				p.T350T		Atlas-SNP	.											.	CPS1	485	.	0			c.C1050T						PASS	.	C	,	2891,1515	671.6+/-402.5	962,967,274	83	77	79		1050,1032	3	1	2	dbSNP_98	79	4881,3719	617.7+/-396.7	1361,2159,780	no	coding-synonymous,coding-synonymous	CPS1	NM_001122633.2,NM_001875.4	,	2323,3126,1054	TT,TC,CC		43.2442,34.3849,40.243	,	350/1507,344/1501	211456639	7772,5234	2203	4300	6503	SO:0001819	synonymous_variant	1373	exon11			CAACACCCTCCCT	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1032C>T	2.37:g.211456639C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			C|0.408;T|0.592	0.592	strong		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211456639	C	T	211456639	2	4	23	1	0	0	0	0	0	0	0	1	3823	610	22	2		2	CPS1	2	211456639	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2287697	211456639	31742734	760	17216										
CPS1	1373	hgsc.bcm.edu	37	chr2	211481257	211481257	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaaaagacactgaaaggCctcaacaggtaaggcagtgc	12	8	1	2	rs2287599	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:211481257C>G	ENST00000233072.5	+	21	2875	c.2679C>G	c.(2677-2679)ggC>ggG	p.G893G	CPS1_ENST00000430249.2_Silent_p.G899G|CPS1_ENST00000451903.2_Silent_p.G442G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	893					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACTGAAAGGCCTCAACAGGT	0.393													G|||	3251	0.649161	0.9107	0.4885	5008	,	,		17249	0.5248		0.5537	False		,,,				2504	0.636				p.G899G		Atlas-SNP	.											.	CPS1	485	.	0			c.C2697G						PASS	.	G	,,	3783,623	269.2+/-268.9	1624,535,44	144	146	146		2697,1326,2679	-0.1	1	2	dbSNP_100	146	4830,3770	531.5+/-382.0	1333,2164,803	no	coding-synonymous,coding-synonymous,coding-synonymous	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	,,	2957,2699,847	GG,GC,CC		43.8372,14.1398,33.7767	,,	899/1507,442/1050,893/1501	211481257	8613,4393	2203	4300	6503	SO:0001819	synonymous_variant	1373	exon22			GAAAGGCCTCAAC	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2679C>G	2.37:g.211481257C>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	45	6	0.133333	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			C|0.357;G|0.643	0.643	strong		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211481257	C	G	211481257	2	3	23	1	0	0	0	0	0	0	0	1	3823	726	26	4		4	CPS1	2	211481257	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24618	211481257	31718116	761	17217										
SPAG16	79582	hgsc.bcm.edu	37	chr2	215013915	215013915	+	Frame_Shift_Del	DEL	T	T	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggttacaaagctgtgggacTttcggaagctgttaccaatt							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:215013915delT	ENST00000331683.5	+	15	1740	c.1645delT	c.(1645-1647)tttfs	p.F549fs	SPAG16_ENST00000374309.3_Frame_Shift_Del_p.F455fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	549					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCTGTGGGACTTTCGGAAGCT	0.368																																					p.D548fs		Pindel,Atlas-Indel	.											.	SPAG16	134	.	0			c.1644delC						PASS	.						166	165	165					2																	215013915		2203	4300	6503	SO:0001589	frameshift_variant	79582	exon15			.	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1645delT	2.37:g.215013915delT	ENSP00000332592:p.Phe549fs	Somatic	307	.	.		WXS	Illumina HiSeq	Phase_I	179	55	0.307	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Frame_Shift_Del	DEL	ENST00000331683.5	37	CCDS2396.1																																																																																			.	.	none		0.368	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		-	215013915	T	-	215013915	7	5	23	1	0	1	0	1	0	0	0	0	14978	1609	56	0	1719	0	SPAG16	2	215013915	Frame_Shift_Del	DEL	T	TCGA-GR-7353-01A-11D-2210-10	3532658	215013915	28185458	762	17218										
FN1	2335	hgsc.bcm.edu	37	chr2	216242917	216242917	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccagagtggtgacaacTccctgagctggtctgcttgt	11	12	2	3	rs1132741	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:216242917T>A	ENST00000359671.1	-	34	5683	c.5418A>T	c.(5416-5418)ggA>ggT	p.G1806G	FN1_ENST00000356005.4_Silent_p.G1716G|FN1_ENST00000354785.4_Silent_p.G1897G|FN1_ENST00000323926.6_Silent_p.G1897G|FN1_ENST00000432072.2_Silent_p.G1807G|FN1_ENST00000336916.4_Silent_p.G1806G|FN1_ENST00000357009.2_Silent_p.G1806G|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000346544.3_Silent_p.G1806G|FN1_ENST00000421182.1_Silent_p.G1716G|FN1_ENST00000345488.5_Silent_p.G1806G|FN1_ENST00000357867.4_Silent_p.G1716G|FN1_ENST00000446046.1_Silent_p.G1806G|FN1_ENST00000443816.1_Silent_p.G1716G			P02751	FINC_HUMAN	fibronectin 1	1806	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G1806G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGTGACAACTCCCTGAGCTG	0.418													T|||	1626	0.324681	0.0598	0.3919	5008	,	,		15294	0.7659		0.2505	False		,,,				2504	0.2566				p.G1897G		Atlas-SNP	.											FN1,NS,carcinoma,0,1	FN1	521	1	1	Substitution - coding silent(1)	stomach(1)	c.A5691T						PASS	.	T	,,,,	400,4006	200.1+/-223.5	10,380,1813	146	125	132		5418,5148,5148,5418,5691	-4.2	0.9	2	dbSNP_86	132	2070,6530	360.9+/-332.1	251,1568,2481	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	261,1948,4294	AA,AT,TT		24.0698,9.0785,18.9912	,,,,	1806/2356,1716/2177,1716/2297,1806/2331,1897/2478	216242917	2470,10536	2203	4300	6503	SO:0001819	synonymous_variant	2335	exon35			GACAACTCCCTGA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5418A>T	2.37:g.216242917T>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	33	31	0.939394	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																				T|0.728;A|0.272	0.272	strong		0.418	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216242917	T	A	216242917	2	1	23	1	0	0	0	0	0	0	0	1	5962	1538	54	5		5	FN1	2	216242917	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1229002	216242917	26956456	763	17219										
FN1	2335	hgsc.bcm.edu	37	chr2	216248820	216248820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacagcatacacagtgatgGtataatcaactccaggttta	8	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:216248820G>T	ENST00000359671.1	-	29	4809	c.4544C>A	c.(4543-4545)aCc>aAc	p.T1515N	FN1_ENST00000356005.4_Missense_Mutation_p.T1515N|FN1_ENST00000354785.4_Missense_Mutation_p.T1606N|FN1_ENST00000323926.6_Missense_Mutation_p.T1606N|FN1_ENST00000432072.2_Missense_Mutation_p.T1606N|FN1_ENST00000336916.4_Missense_Mutation_p.T1515N|FN1_ENST00000357009.2_Missense_Mutation_p.T1515N|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000346544.3_Missense_Mutation_p.T1515N|FN1_ENST00000421182.1_Missense_Mutation_p.T1515N|FN1_ENST00000345488.5_Missense_Mutation_p.T1515N|FN1_ENST00000357867.4_Missense_Mutation_p.T1515N|FN1_ENST00000446046.1_Missense_Mutation_p.T1515N|FN1_ENST00000443816.1_Missense_Mutation_p.T1515N			P02751	FINC_HUMAN	fibronectin 1	1515	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACAGTGATGGTATAATCAAC	0.498																																					p.T1606N		Atlas-SNP	.											.	FN1	521	.	0			c.C4817A						PASS	.						131	120	123					2																	216248820		2203	4300	6503	SO:0001583	missense	2335	exon30			GTGATGGTATAAT		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4544C>A	2.37:g.216248820G>T	ENSP00000352696:p.Thr1515Asn	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	71	19	0.267606	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046748	0.75846	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.83	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.63331	0.2502	L	0.39898	1.24	0.27525	N	0.951287	D;D;D;D;D;P;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.999;0.922;0.999;0.999;0.999;0.995	D;D;D;D;D;P;D;D;D;D	0.83275	0.977;0.995;0.996;0.969;0.987;0.905;0.987;0.977;0.977;0.969	T	0.56426	-0.7981	10	0.46703	T	0.11	.	14.3418	0.66633	0.0705:0.0:0.9295:0.0	.	1606;1606;1515;1515;1515;1515;1516;1515;1515;1606	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	N	1515;1606;1515;1515;1606;1516;1515;1515;1515;1515;1515;1515;1606;1515;322	ENSP00000394423:T1515N;ENSP00000323534:T1606N;ENSP00000338200:T1515N;ENSP00000350534:T1515N;ENSP00000346839:T1606N;ENSP00000352696:T1515N;ENSP00000265312:T1515N;ENSP00000273049:T1515N;ENSP00000349509:T1515N;ENSP00000410422:T1515N;ENSP00000415018:T1515N;ENSP00000399538:T1606N;ENSP00000348285:T1515N;ENSP00000416139:T322N	ENSP00000265313:T1516N	T	-	2	0	FN1	215957065	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.391000	0.73208	2.756000	0.94617	0.655000	0.94253	ACC	.	.	none		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216248820	G	T	216248820	3	4	23	1	0	0	0	0	1	0	0	0	5962	1261	44	4	2684	4	FN1	2	216248820	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5903	216248820	26950553	764	17220										
TNS1	7145	hgsc.bcm.edu	37	chr2	218674614	218674614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaacgatggtggcagctggCgtggggtctgcagccaacgt	17	9	1	1	rs13417442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:218674614C>T	ENST00000171887.4	-	30	5345	c.4893G>A	c.(4891-4893)acG>acA	p.T1631T	TNS1_ENST00000419504.1_Silent_p.T1617T|TNS1_ENST00000430930.1_Silent_p.T1610T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1631					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCAGCTGGCGTGGGGTCTG	0.562																																					p.T1631T		Atlas-SNP	.											.	TNS1	251	.	0			c.G4893A						PASS	.			188,4218	120.8+/-158.4	8,172,2023	93	84	87		4893	-5.2	0.9	2	dbSNP_121	87	628,7972	162.5+/-215.2	27,574,3699	yes	coding-synonymous	TNS1	NM_022648.4		35,746,5722	TT,TC,CC		7.3023,4.2669,6.274		1631/1736	218674614	816,12190	2203	4300	6503	SO:0001819	synonymous_variant	7145	exon30			AGCTGGCGTGGGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4893G>A	2.37:g.218674614C>T		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	188	178	0.946809	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			C|0.934;T|0.066	0.066	strong		0.562	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218674614	C	T	218674614	2	4	23	1	0	0	0	0	0	0	0	1	16340	755	27	1		1	TNS1	2	218674614	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2425794	218674614	24524759	765	17221										
TNS1	7145	hgsc.bcm.edu	37	chr2	218682757	218682757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgggtctccgatcctccGgggtagaatagccaccatag	13	11	1	1	rs140104262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:218682757G>A	ENST00000171887.4	-	24	4438	c.3986C>T	c.(3985-3987)cCg>cTg	p.P1329L	TNS1_ENST00000419504.1_Missense_Mutation_p.P1316L|TNS1_ENST00000430930.1_Missense_Mutation_p.P1308L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1329					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCGATCCTCCGGGGTAGAATA	0.662													G|||	4	0.000798722	0.0	0.0	5008	,	,		15504	0.0		0.003	False		,,,				2504	0.001				p.P1329L		Atlas-SNP	.											TNS1,NS,carcinoma,+1,1	TNS1	251	1	0			c.C3986T						PASS	.	G	LEU/PRO	1,4405		0,1,2202	22	23	23		3986	4.6	1	2	dbSNP_134	23	21,8577		0,21,4278	yes	missense	TNS1	NM_022648.4	98	0,22,6480	AA,AG,GG		0.2442,0.0227,0.1692	possibly-damaging	1329/1736	218682757	22,12982	2203	4299	6502	SO:0001583	missense	7145	exon24			TCCTCCGGGGTAG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3986C>T	2.37:g.218682757G>A	ENSP00000171887:p.Pro1329Leu	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	39	37	0.948718	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.68	3.675106	0.67928	2.27E-4	0.002442	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.94138	-3.36;1.7;-3.36;-3.36	4.57	4.57	0.56435	.	0.605025	0.15502	N	0.258967	D	0.94853	0.8337	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.58721	0.844;0.754;0.826	D	0.95184	0.8302	10	0.87932	D	0	.	17.5631	0.87912	0.0:0.0:1.0:0.0	.	1329;1308;1316	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	L	1329;467;1316;1308	ENSP00000171887:P1329L;ENSP00000394171:P467L;ENSP00000408724:P1316L;ENSP00000406016:P1308L	ENSP00000171887:P1329L	P	-	2	0	TNS1	218391002	1.000000	0.71417	0.989000	0.46669	0.311000	0.27955	6.993000	0.76245	2.368000	0.80403	0.563000	0.77884	CCG	G|0.999;A|0.001	0.001	strong		0.662	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218682757	G	A	218682757	3	1	23	1	0	0	0	0	1	0	0	0	16340	1116	39	1	1261	1	TNS1	2	218682757	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8143	218682757	24516616	766	17222										
TNS1	7145	hgsc.bcm.edu	37	chr2	218682771	218682771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctccggggtagaatagccAccataggccacatgccggtc	11	14	0	1	rs3796026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:218682771A>G	ENST00000171887.4	-	24	4424	c.3972T>C	c.(3970-3972)ggT>ggC	p.G1324G	TNS1_ENST00000419504.1_Silent_p.G1311G|TNS1_ENST00000430930.1_Silent_p.G1303G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1324					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAATAGCCACCATAGGCCA	0.657													A|||	1667	0.332867	0.2443	0.4121	5008	,	,		16095	0.246		0.4056	False		,,,				2504	0.411				p.G1324G		Atlas-SNP	.											.	TNS1	251	.	0			c.T3972C						PASS	.	A		1033,3371		148,737,1317	21	22	22		3972	-6.1	1	2	dbSNP_107	22	3418,5176		734,1950,1613	no	coding-synonymous	TNS1	NM_022648.4		882,2687,2930	GG,GA,AA		39.7719,23.4559,34.2437		1324/1736	218682771	4451,8547	2202	4297	6499	SO:0001819	synonymous_variant	7145	exon24			ATAGCCACCATAG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3972T>C	2.37:g.218682771A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	47	46	0.978723	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			A|0.689;G|0.311	0.311	strong		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218682771	A	G	218682771	2	3	23	1	0	0	0	0	0	0	0	1	16340	146	6	2		2	TNS1	2	218682771	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14	218682771	24516602	767	17223										
TNS1	7145	hgsc.bcm.edu	37	chr2	218683257	218683257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacactgaactgagctcgAgcctggctttccggagagga	13	12	0	3	rs2571442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:218683257A>G	ENST00000171887.4	-	24	3938	c.3486T>C	c.(3484-3486)gcT>gcC	p.A1162A	TNS1_ENST00000419504.1_Silent_p.A1149A|TNS1_ENST00000430930.1_Silent_p.A1141A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1162					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACTGAGCTCGAGCCTGGCTTT	0.612													G|||	2016	0.402556	0.4977	0.4294	5008	,	,		18855	0.246		0.4066	False		,,,				2504	0.4121				p.A1162A		Atlas-SNP	.											.	TNS1	251	.	0			c.T3486C						PASS	.	G		2023,2383	612.3+/-391.9	468,1087,648	55	59	57		3486	0.2	0.9	2	dbSNP_100	57	3561,5039	627.6+/-398.0	749,2063,1488	no	coding-synonymous	TNS1	NM_022648.4		1217,3150,2136	GG,GA,AA		41.407,45.9147,42.934		1162/1736	218683257	5584,7422	2203	4300	6503	SO:0001819	synonymous_variant	7145	exon24			AGCTCGAGCCTGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3486T>C	2.37:g.218683257A>G		Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	113	110	0.973451	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																			T|0.000;G|0.418;A|0.582	0.418	strong		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218683257	A	G	218683257	2	3	23	1	0	0	0	0	0	0	0	1	16340	291	11	3		3	TNS1	2	218683257	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	486	218683257	24516116	768	17224										
C2orf62	375307	hgsc.bcm.edu	37	chr2	219221846	219221846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctaaggaccaccagccctcGggtccggagtgtctgccact	12	15	1	0	rs4324314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219221846G>A	ENST00000289388.3	+	2	83	c.54G>A	c.(52-54)tcG>tcA	p.S18S	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		18					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCCCTCGGGTCCGGAGT	0.637													G|||	594	0.11861	0.0408	0.2421	5008	,	,		15900	0.1032		0.2117	False		,,,				2504	0.0562				p.S18S		Atlas-SNP	.											.	C2orf62	28	.	0			c.G54A						PASS	.	G		316,4090	167.6+/-198.6	9,298,1896	55	55	55		54	-3.9	0	2	dbSNP_111	55	1929,6671	338.5+/-322.8	219,1491,2590	no	coding-synonymous	C2orf62	NM_198559.1		228,1789,4486	AA,AG,GG		22.4302,7.172,17.2613		18/388	219221846	2245,10761	2203	4300	6503	SO:0001819	synonymous_variant	375307	exon2			GCCCTCGGGTCCG																												ENST00000289388.3:c.54G>A	2.37:g.219221846G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	76	22	0.289474	NM_198559		Silent	SNP	ENST00000289388.3	37	CCDS2414.1																																																																																			G|0.843;A|0.157	0.157	strong		0.637	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			A	219221846	G	A	219221846	2	1	23	1	0	0	0	0	0	0	0	1	2181	1103	39	1		1	C2orf62	2	219221846	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	538589	219221846	23977527	769	17225										
CTDSP1	58190	hgsc.bcm.edu	37	chr2	219267781	219267781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgtgttgaagcgtcctcaCgtggatgagttcctgcagcg	13	10	1	2	rs2227255	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219267781C>T	ENST00000273062.2	+	5	738	c.402C>T	c.(400-402)caC>caT	p.H134H	CTDSP1_ENST00000443891.1_Silent_p.H133H|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	134	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTCCTCACGTGGATGAGT	0.672													C|||	2331	0.465455	0.0318	0.5764	5008	,	,		13304	0.6915		0.6163	False		,,,				2504	0.5849				p.H134H		Atlas-SNP	.											CTDSP1,colon,carcinoma,0,1	CTDSP1	19	1	0			c.C402T						scavenged	.	C	,,,	597,3809	262.8+/-265.1	39,519,1645	69	64	66		399,,402,399	-2.7	0.6	2	dbSNP_96	66	5248,3352	642.6+/-399.8	1604,2040,656	no	coding-synonymous,utr-5,coding-synonymous,coding-synonymous	CTDSP1	NM_001206878.1,NM_001206879.1,NM_021198.2,NM_182642.2	,,,	1643,2559,2301	TT,TC,CC		38.9767,13.5497,44.9408	,,,	133/261,,134/262,133/261	219267781	5845,7161	2203	4300	6503	SO:0001819	synonymous_variant	58190	exon5			TCCTCACGTGGAT	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.402C>T	2.37:g.219267781C>T		Somatic	267	2	0.00749064		WXS	Illumina HiSeq	Phase_I	169	166	0.982249	NM_021198	C9IYG0|Q7Z5Q3|Q7Z5Q4	Silent	SNP	ENST00000273062.2	37	CCDS2416.1	1121	0.5132783882783882	26	0.052845528455284556	212	0.585635359116022	401	0.701048951048951	482	0.6358839050131926	C	6.359	0.434375	0.12045	0.135497	0.610233	ENSG00000144579	ENST00000452977;ENST00000428361	.	.	.	4.91	-2.71	0.05986	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999968	.	.	.	.	.	.	T	0.34403	-0.9830	3	.	.	.	-16.9965	12.043	0.53464	0.0:0.4326:0.0:0.5674	rs2227255;rs58989933;rs2227255	.	.	.	M	127;135	.	.	T	+	2	0	CTDSP1	218976025	0.000000	0.05858	0.627000	0.29227	0.863000	0.49368	-2.503000	0.00965	-0.677000	0.05231	-1.174000	0.01732	ACG	C|0.533;T|0.467	0.467	strong		0.672	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		T	219267781	C	T	219267781	2	4	23	1	0	0	0	0	0	0	0	1	4003	535	19	1		1	CTDSP1	2	219267781	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45935	219267781	23931592	770	17226										
ZNF142	7701	hgsc.bcm.edu	37	chr2	219508372	219508372	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaaccagagactgtggcaAgaggctcttctgtttcttct	12	9	4	2	rs3770213	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219508372A>T	ENST00000449707.1	-	8	3288	c.2867T>A	c.(2866-2868)cTt>cAt	p.L956H	ZNF142_ENST00000411696.2_Missense_Mutation_p.L956H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	956			L -> H (in dbSNP:rs3770213).		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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACTGTGGCAAGAGGCTCTTC	0.562													A|||	959	0.191494	0.028	0.3271	5008	,	,		18398	0.0556		0.3757	False		,,,				2504	0.2669				p.L956H	Colon(170;867 1942 8995 15834 18053)	Atlas-SNP	.											.	ZNF142	190	.	0			c.T2867A						PASS	.	A	HIS/LEU	298,3464		9,280,1592	199	203	202		2867	-1.6	0	2	dbSNP_107	202	3128,5106		625,1878,1614	yes	missense	ZNF142	NM_001105537.1	99	634,2158,3206	TT,TA,AA		37.9888,7.9213,28.5595	possibly-damaging	956/1688	219508372	3426,8570	1881	4117	5998	SO:0001583	missense	7701	exon8			GTGGCAAGAGGCT	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2867T>A	2.37:g.219508372A>T	ENSP00000408643:p.Leu956His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	99	29	0.292929	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	459	0.21016483516483517	26	0.052845528455284556	114	0.3149171270718232	36	0.06293706293706294	283	0.3733509234828496	A	15.87	2.960372	0.53400	0.079213	0.379888	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14144	2.53;2.53	3.93	-1.58	0.08479	.	2.400410	0.01281	N	0.009736	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	D;D	0.57257	0.979;0.979	P;P	0.46975	0.533;0.533	T	0.39396	-0.9616	9	0.15499	T	0.54	-14.8295	5.5057	0.16852	0.4894:0.1476:0.363:0.0	rs3770213;rs17463262;rs52792951;rs3770213	956;793	P52746;A8MWU9	ZN142_HUMAN;.	H	956	ENSP00000408643:L956H;ENSP00000398798:L956H	ENSP00000398798:L956H	L	-	2	0	ZNF142	219216616	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	0.104000	0.15313	-0.052000	0.13311	0.459000	0.35465	CTT	A|0.741;N|0.000	.	strong		0.562	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		T	219508372	A	T	219508372	3	4	23	1	0	0	0	0	1	0	0	0	17728	72	3	5	2208	5	ZNF142	2	219508372	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	240591	219508372	23691001	771	17227										
ZNF142	7701	hgsc.bcm.edu	37	chr2	219513782	219513782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaagcagcgaaggggtaaTggctctgctgcggctgctgc	16	9	1	1	rs4674322	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219513782T>C	ENST00000449707.1	-	6	1270	c.849A>G	c.(847-849)ccA>ccG	p.P283P	ZNF142_ENST00000411696.2_Silent_p.P283P	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	283					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGGGTAATGGCTCTGCTG	0.617											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	434	0.0866613	0.0151	0.1441	5008	,	,		19362	0.0		0.2704	False		,,,				2504	0.0429				p.P283P	Colon(170;867 1942 8995 15834 18053)	Atlas-SNP	.											.	ZNF142	190	.	0			c.A849G						PASS	.	C		185,3867		3,179,1844	29	32	31		849	-10.4	0	2	dbSNP_111	31	2169,6219		310,1549,2335	no	coding-synonymous	ZNF142	NM_001105537.1		313,1728,4179	CC,CT,TT		25.8584,4.5656,18.9228		283/1688	219513782	2354,10086	2026	4194	6220	SO:0001819	synonymous_variant	7701	exon6			GGGTAATGGCTCT	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.849A>G	2.37:g.219513782T>C		Somatic	62	0	0	2259	WXS	Illumina HiSeq	Phase_I	42	12	0.285714	NM_001105537	Q92510	Silent	SNP	ENST00000449707.1	37	CCDS42817.1																																																																																			T|0.861;C|0.139	0.139	strong		0.617	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		C	219513782	T	C	219513782	2	2	23	1	0	0	0	0	0	0	0	1	17728	1451	51	2		2	ZNF142	2	219513782	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5410	219513782	23685591	772	17228										
STK36	27148	hgsc.bcm.edu	37	chr2	219555262	219555262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgactctgagcagactttgcGgagggacagccttatggtaa	13	8	1	3	rs1344642	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219555262G>A	ENST00000295709.3	+	14	2027	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	STK36_ENST00000392105.3_Missense_Mutation_p.R583Q|STK36_ENST00000392106.2_Missense_Mutation_p.R583Q|STK36_ENST00000440309.1_Missense_Mutation_p.R583Q	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGACTTTGCGGAGGGACAGC	0.522													G|||	2112	0.421725	0.7095	0.4107	5008	,	,		18563	0.1429		0.4235	False		,,,				2504	0.3262				p.R583Q		Atlas-SNP	.											.	STK36	111	.	0			c.G1748A						PASS	.	G	GLN/ARG	2804,1602	665.1+/-401.5	886,1032,285	69	67	68		1748	2.4	0	2	dbSNP_88	68	3775,4825	536.2+/-383.0	840,2095,1365	yes	missense	STK36	NM_015690.4	43	1726,3127,1650	AA,AG,GG		43.8953,36.3595,49.4157	possibly-damaging	583/1316	219555262	6579,6427	2203	4300	6503	SO:0001583	missense	27148	exon14			CTTTGCGGAGGGA	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1748G>A	2.37:g.219555262G>A	ENSP00000295709:p.Arg583Gln	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	94	23	0.244681	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	921	0.4217032967032967	371	0.7540650406504065	146	0.40331491712707185	90	0.15734265734265734	314	0.41424802110817943	G	10.15	1.270143	0.23221	0.636405	0.438953	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.73681	-0.77;-0.77;0.56;-0.77	5.14	2.42	0.29668	Armadillo-like helical (1);	0.366067	0.19209	N	0.119992	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.26258	0.145;0.041	B;B	0.12837	0.008;0.002	T	0.41179	-0.9523	9	0.32370	T	0.25	-4.1498	8.0229	0.30419	0.2473:0.0:0.7527:0.0	rs1344642;rs17463680;rs52819602;rs59588577;rs1344642	583;583	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	Q	583	ENSP00000295709:R583Q;ENSP00000375955:R583Q;ENSP00000375954:R583Q;ENSP00000394095:R583Q	ENSP00000295709:R583Q	R	+	2	0	STK36	219263506	0.309000	0.24518	0.046000	0.18839	0.720000	0.41350	1.646000	0.37249	0.356000	0.24157	-0.136000	0.14681	CGG	G|0.530;A|0.470	0.470	strong		0.522	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			A	219555262	G	A	219555262	3	1	23	1	0	0	0	0	1	0	0	0	15301	1116	39	1	1798	1	STK36	2	219555262	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41480	219555262	23644111	773	17229										
STK36	27148	hgsc.bcm.edu	37	chr2	219562675	219562675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgctgacctccttatagGtgtcttggccgacctcaggg	13	11	2	1	rs1863704	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219562675G>A	ENST00000295709.3	+	25	3287	c.3008G>A	c.(3007-3009)gGt>gAt	p.G1003D	STK36_ENST00000392105.3_Missense_Mutation_p.G982D|STK36_ENST00000392106.2_Missense_Mutation_p.G982D|STK36_ENST00000440309.1_Missense_Mutation_p.G1003D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTCCTTATAGGTGTCTTGGCC	0.557													G|||	950	0.189696	0.0212	0.3285	5008	,	,		21184	0.0556		0.3757	False		,,,				2504	0.2658				p.G1003D		Atlas-SNP	.											STK36,rectum,carcinoma,0,1	STK36	111	1	0			c.G3008A						PASS	.	G	ASP/GLY	336,4070	178.7+/-207.4	11,314,1878	149	131	137		3008	2	0	2	dbSNP_92	137	3284,5316	492.8+/-373.4	656,1972,1672	yes	missense	STK36	NM_015690.4	94	667,2286,3550	AA,AG,GG		38.186,7.626,27.8333	possibly-damaging	1003/1316	219562675	3620,9386	2203	4300	6503	SO:0001583	missense	27148	exon25			TTATAGGTGTCTT	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3008G>A	2.37:g.219562675G>A	ENSP00000295709:p.Gly1003Asp	Somatic	260	0	0		WXS	Illumina HiSeq	Phase_I	125	36	0.288	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	454|454	0.2078754578754579|0.2078754578754579	23|23	0.046747967479674794|0.046747967479674794	112|112	0.30939226519337015|0.30939226519337015	36|36	0.06293706293706294|0.06293706293706294	283|283	0.3733509234828496|0.3733509234828496	G|G	0.208|0.208	-1.039006|-1.039006	0.02013|0.02013	0.07626|0.07626	0.38186|0.38186	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.69561|.	-0.4;-0.4;-0.41;-0.4|.	5.82|5.82	2.01|2.01	0.26516|0.26516	.|.	0.790460|.	0.11084|.	N|.	0.601535|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	P|P	0.0|0.0	B;P;B|.	0.39424|.	0.001;0.673;0.179|.	B;B;B|.	0.36464|.	0.001;0.225;0.077|.	T|T	0.47699|0.47699	-0.9097|-0.9097	9|4	0.32370|.	T|.	0.25|.	-0.0347|-0.0347	6.8511|6.8511	0.24014|0.24014	0.3342:0.0:0.5491:0.1167|0.3342:0.0:0.5491:0.1167	rs1863704;rs56519430;rs57906514;rs1863704|rs1863704;rs56519430;rs57906514;rs1863704	982;982;1003|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	D|M	1003;982;982;1003|196	ENSP00000295709:G1003D;ENSP00000375955:G982D;ENSP00000375954:G982D;ENSP00000394095:G1003D|.	ENSP00000295709:G1003D|.	G|V	+|+	2|1	0|0	STK36|STK36	219270919|219270919	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.823000|0.823000	0.27366|0.27366	0.122000|0.122000	0.18314|0.18314	-0.797000|-0.797000	0.03246|0.03246	GGT|GTG	G|0.767;A|0.233	0.233	strong		0.557	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			A	219562675	G	A	219562675	3	1	23	1	0	0	0	0	1	0	0	0	15301	1261	44	2	3102	2	STK36	2	219562675	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7413	219562675	23636698	774	17230										
TTLL4	9654	hgsc.bcm.edu	37	chr2	219602499	219602499	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtacctgccacgccacctGagaaaccctcggagggcaga	11	15	0	2	rs3731877	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219602499G>C	ENST00000392102.1	+	3	440	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	TTLL4_ENST00000442769.1_Missense_Mutation_p.E34Q|TTLL4_ENST00000258398.4_Missense_Mutation_p.E34Q|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	34			E -> Q (in dbSNP:rs3731877). {ECO:0000269|PubMed:8724849}.		protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACGCCACCTGAGAAACCCTC	0.557													G|||	2020	0.403355	0.6006	0.4222	5008	,	,		19525	0.1409		0.4662	False		,,,				2504	0.3292				p.E34Q	GBM(172;1818 2053 15407 20943 49753)	Atlas-SNP	.											TTLL4,brain,glioma,0,1	TTLL4	96	1	0			c.G100C						PASS	.	G	GLN/GLU	2578,1828	637.9+/-396.8	756,1066,381	65	67	66		100	5.5	1	2	dbSNP_107	66	4082,4518	561.4+/-387.8	987,2108,1205	yes	missense	TTLL4	NM_014640.4	29	1743,3174,1586	CC,CG,GG		47.4651,41.4889,48.7929	probably-damaging	34/1200	219602499	6660,6346	2203	4300	6503	SO:0001583	missense	9654	exon3			CCACCTGAGAAAC		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.100G>C	2.37:g.219602499G>C	ENSP00000375951:p.Glu34Gln	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	113	32	0.283186	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	910	0.4166666666666667	317	0.6443089430894309	151	0.4171270718232044	90	0.15734265734265734	352	0.46437994722955145	G	15.17	2.754812	0.49362	0.585111	0.474651	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.53	5.53	0.82687	.	0.114147	0.39475	N	0.001342	T	0.00012	0.0000	L	0.34521	1.04	0.39370	P	0.03393400000000002	P;P	0.37330	0.59;0.59	B;B	0.33196	0.159;0.159	T	0.28808	-1.0032	9	0.66056	D	0.02	.	13.9947	0.64390	0.0:0.151:0.849:0.0	rs3731877;rs52824369;rs3731877	34;34	E7EX20;Q14679	.;TTLL4_HUMAN	Q	34	ENSP00000411228:E34Q;ENSP00000375951:E34Q;ENSP00000391342:E34Q;ENSP00000396555:E34Q;ENSP00000405485:E34Q;ENSP00000258398:E34Q	ENSP00000258398:E34Q	E	+	1	0	TTLL4	219310743	0.985000	0.35326	0.992000	0.48379	0.444000	0.32077	3.127000	0.50484	2.601000	0.87937	0.563000	0.77884	GAG	G|0.525;C|0.475	0.475	strong		0.557	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		C	219602499	G	C	219602499	3	2	23	1	0	0	0	0	1	0	0	0	16726	1291	45	4	102	4	TTLL4	2	219602499	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39824	219602499	23596874	775	17231										
TTLL4	9654	hgsc.bcm.edu	37	chr2	219602819	219602819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgcttgcgttcgagcccGtcagaaaaaagccctttttc	8	12	2	1	rs3731876	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219602819G>A	ENST00000392102.1	+	3	760	c.420G>A	c.(418-420)ccG>ccA	p.P140P	TTLL4_ENST00000442769.1_Silent_p.P140P|TTLL4_ENST00000258398.4_Silent_p.P140P|TTLL4_ENST00000457313.1_5'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	140					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTTCGAGCCCGTCAGAAAAAA	0.542													A|||	2371	0.473442	0.8585	0.4366	5008	,	,		20218	0.1409		0.4662	False		,,,				2504	0.3292				p.P140P	GBM(172;1818 2053 15407 20943 49753)	Atlas-SNP	.											.	TTLL4	96	.	0			c.G420A						PASS	.	A		3577,829	329.9+/-301.2	1455,667,81	95	98	97		420	-2.1	0	2	dbSNP_107	97	4094,4506	592.0+/-392.9	994,2106,1200	no	coding-synonymous	TTLL4	NM_014640.4		2449,2773,1281	AA,AG,GG		47.6047,18.8153,41.0195		140/1200	219602819	7671,5335	2203	4300	6503	SO:0001819	synonymous_variant	9654	exon3			GAGCCCGTCAGAA		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.420G>A	2.37:g.219602819G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	27	11	0.407407	NM_014640	A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	CCDS2422.1																																																																																			G|0.459;A|0.541	0.541	strong		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		A	219602819	G	A	219602819	2	1	23	1	0	0	0	0	0	0	0	1	16726	1132	40	1		1	TTLL4	2	219602819	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	320	219602819	23596554	776	17232										
TTLL4	9654	hgsc.bcm.edu	37	chr2	219610433	219610433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggagaaacttccctgggaAcagaggaagttgctccgatg	14	8	0	2	rs586194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219610433A>G	ENST00000392102.1	+	7	2146	c.1806A>G	c.(1804-1806)gaA>gaG	p.E602E	TTLL4_ENST00000442769.1_Silent_p.E602E|TTLL4_ENST00000258398.4_Silent_p.E602E|TTLL4_ENST00000457313.1_Silent_p.E437E	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	602					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTCCCTGGGAACAGAGGAAGT	0.507													G|||	2450	0.489217	0.9168	0.438	5008	,	,		20186	0.1409		0.4672	False		,,,				2504	0.3292				p.E602E	GBM(172;1818 2053 15407 20943 49753)	Atlas-SNP	.											.	TTLL4	96	.	0			c.A1806G						PASS	.	G		3726,680	287.2+/-279.2	1577,572,54	50	49	49		1806	-0.1	1	2	dbSNP_83	49	4092,4508	588.7+/-392.4	992,2108,1200	no	coding-synonymous	TTLL4	NM_014640.4		2569,2680,1254	GG,GA,AA		47.5814,15.4335,39.8893		602/1200	219610433	7818,5188	2203	4300	6503	SO:0001819	synonymous_variant	9654	exon7			CTGGGAACAGAGG		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1806A>G	2.37:g.219610433A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	83	18	0.216867	NM_014640	A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	CCDS2422.1																																																																																			A|0.446;G|0.554	0.554	strong		0.507	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		G	219610433	A	G	219610433	2	3	23	1	0	0	0	0	0	0	0	1	16726	40	2	2		2	TTLL4	2	219610433	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7614	219610433	23588940	777	17233										
CYP27A1	1593	hgsc.bcm.edu	37	chr2	219678877	219678877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaggactttgcccacatgcCgttgctcaaagctgtgctta	9	12	1	0	rs41272687	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219678877C>T	ENST00000258415.4	+	6	1578	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	384	Sterol-binding. {ECO:0000255}.				bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCCCACATGCCGTTGCTCAAA	0.577													C|||	43	0.00858626	0.0015	0.0086	5008	,	,		20653	0.0		0.0209	False		,,,				2504	0.0143				p.P384L		Atlas-SNP	.											.	CYP27A1	52	.	0			c.C1151T	GRCh37	CM005424	CYP27A1	M	rs41272687	PASS	.	C	LEU/PRO	18,4388	26.2+/-53.5	0,18,2185	79	69	72		1151	5.8	1	2	dbSNP_127	72	223,8377	92.3+/-154.4	2,219,4079	yes	missense	CYP27A1	NM_000784.3	98	2,237,6264	TT,TC,CC		2.593,0.4085,1.853	probably-damaging	384/532	219678877	241,12765	2203	4300	6503	SO:0001583	missense	1593	exon6			ACATGCCGTTGCT	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1151C>T	2.37:g.219678877C>T	ENSP00000258415:p.Pro384Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	87	62	0.712644	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	18	0.008241758241758242	0	0.0	1	0.0027624309392265192	0	0.0	17	0.022427440633245383	C	25.5	4.649480	0.87958	0.004085	0.02593	ENSG00000135929	ENST00000258415	T	0.74947	-0.89	5.76	5.76	0.90799	.	0.107590	0.64402	D	0.000004	T	0.76863	0.4047	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85215	0.1023	10	0.87932	D	0	-28.2801	18.9739	0.92728	0.0:1.0:0.0:0.0	rs41272687;rs59907267;rs61733620	384	Q02318	CP27A_HUMAN	L	384	ENSP00000258415:P384L	ENSP00000258415:P384L	P	+	2	0	CYP27A1	219387121	1.000000	0.71417	0.969000	0.41365	0.460000	0.32559	7.629000	0.83207	2.706000	0.92434	0.655000	0.94253	CCG	C|0.985;T|0.015	0.015	strong		0.577	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			T	219678877	C	T	219678877	3	4	23	1	0	0	0	0	1	0	0	0	4158	652	23	1	1173	1	CYP27A1	2	219678877	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	68444	219678877	23520496	778	17234										
CCDC108	255101	hgsc.bcm.edu	37	chr2	219890814	219890814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatagctgtggcctcgtgccCgcaccgtcaggcaccaggat	12	14	1	0	rs114017706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219890814C>T	ENST00000341552.5	-	14	2362	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.R760Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCGTGCCCGCACCGTCAG	0.597													C|||	75	0.014976	0.0499	0.0086	5008	,	,		20085	0.0		0.002	False		,,,				2504	0.001				p.R760Q		Atlas-SNP	.											CCDC108,right_upper_lobe,carcinoma,+1,1	CCDC108	208	1	0			c.G2279A						PASS	.	C	GLN/ARG	149,4257	103.8+/-142.4	1,147,2055	80	71	74		2279	-1.5	0	2	dbSNP_132	74	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CCDC108	NM_194302.2	43	1,152,6350	TT,TC,CC		0.0581,3.3818,1.1841	possibly-damaging	760/1926	219890814	154,12852	2203	4300	6503	SO:0001583	missense	255101	exon14			CGTGCCCGCACCG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2279G>A	2.37:g.219890814C>T	ENSP00000340776:p.Arg760Gln	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	164	47	0.286585	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	21	0.009615384615384616	16	0.032520325203252036	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	C	12.23	1.874254	0.33069	0.033818	5.81E-4	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06068	3.35;3.35;3.35	4.87	-1.46	0.08800	.	0.698236	0.11855	N	0.522902	T	0.01454	0.0047	L	0.55103	1.725	0.09310	N	1	P	0.39404	0.672	B	0.28139	0.086	T	0.34428	-0.9829	10	0.35671	T	0.21	-7.944	6.1253	0.20176	0.0:0.4501:0.1226:0.4273	.	760	Q6ZU64	CC108_HUMAN	Q	760	ENSP00000340776:R760Q;ENSP00000413377:R760Q;ENSP00000409117:R760Q	ENSP00000340776:R760Q	R	-	2	0	CCDC108	219599058	0.000000	0.05858	0.003000	0.11579	0.588000	0.36517	-0.972000	0.03802	-0.213000	0.10094	0.561000	0.74099	CGG	C|0.989;T|0.011	0.011	strong		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219890814	C	T	219890814	3	4	23	1	0	0	0	0	1	0	0	0	2743	652	23	1	3586	1	CCDC108	2	219890814	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	211937	219890814	23308559	779	17235										
CCDC108	255101	hgsc.bcm.edu	37	chr2	219900068	219900068	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcataattattcatactgcaCgtattttaaacactcactgg	5	9	2	0	rs17852959	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219900068C>T	ENST00000341552.5	-	5	626				CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Missense_Mutation_p.V161M|CCDC108_ENST00000324264.6_Missense_Mutation_p.V161M|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.V161M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATACTGCACGTATTTTAAA	0.363													C|||	457	0.091254	0.0439	0.0893	5008	,	,		21263	0.1597		0.0885	False		,,,				2504	0.089				p.V161M		Atlas-SNP	.											CCDC108_ENST00000295729,NS,carcinoma,0,1	CCDC108	208	1	1	Substitution - Missense(1)	stomach(1)	c.G481A						scavenged	.	C	MET/VAL,	202,4150		7,188,1981	28	30	29		481,	2.7	0	2	dbSNP_123	29	764,7720		25,714,3503	yes	missense,intron	CCDC108	NM_152389.2,NM_194302.2	21,	32,902,5484	TT,TC,CC		9.0052,4.6415,7.5257	,	161/165,	219900068	966,11870	2176	4242	6418	SO:0001627	intron_variant	255101	exon4			ACTGCACGTATTT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+133G>A	2.37:g.219900068C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	59	7	0.118644	NM_152389	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	210	0.09615384615384616	24	0.04878048780487805	29	0.08011049723756906	90	0.15734265734265734	67	0.08839050131926121	C	1.176	-0.639592	0.03557	0.046415	0.090052	ENSG00000181378	ENST00000295729;ENST00000324264	T;T	0.53640	0.61;0.61	2.72	2.72	0.32119	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.80722	P	0.0	D	0.89917	1.0	D	0.67900	0.954	T	0.01993	-1.1233	8	0.17369	T	0.5	.	9.1072	0.36705	0.0:1.0:0.0:0.0	rs17852959;rs59675281	161	E9PCR1	.	M	161	ENSP00000295729:V161M;ENSP00000313807:V161M	ENSP00000295729:V161M	V	-	1	0	CCDC108	219608312	0.000000	0.05858	0.021000	0.16686	0.024000	0.10985	-0.214000	0.09292	1.828000	0.53243	0.561000	0.74099	GTG	C|0.904;T|0.096	0.096	strong		0.363	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219900068	C	T	219900068	1	4	23	0	1	0	0	0	0	0	0	0	2743	536	19	1		1	CCDC108	2	219900068	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9254	219900068	23299305	780	17236										
IHH	3549	hgsc.bcm.edu	37	chr2	219920565	219920565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcagggaagcagccgccCgtcttggctgcggccgagtg	17	14	1	0	rs3731878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:219920565C>T	ENST00000295731.6	-	3	599	c.600G>A	c.(598-600)acG>acA	p.T200T	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	200					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGCCGCCCGTCTTGGCTG	0.672													C|||	551	0.110024	0.1104	0.0951	5008	,	,		16118	0.1617		0.0865	False		,,,				2504	0.091				p.T200T		Atlas-SNP	.											.	IHH	33	.	0			c.G600A						PASS	.	C		421,3975		30,361,1807	16	18	18		600	-5.4	1	2	dbSNP_107	18	670,7918		28,614,3652	no	coding-synonymous	IHH	NM_002181.3		58,975,5459	TT,TC,CC		7.8016,9.5769,8.4026		200/412	219920565	1091,11893	2198	4294	6492	SO:0001819	synonymous_variant	3549	exon3			GCCGCCCGTCTTG	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.600G>A	2.37:g.219920565C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	20	9	0.45	NM_002181	B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	CCDS33380.1																																																																																			C|0.902;T|0.098	0.098	strong		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		T	219920565	C	T	219920565	2	4	23	1	0	0	0	0	0	0	0	1	7607	639	23	1		1	IHH	2	219920565	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20497	219920565	23278808	781	17237										
C2orf24	27013	hgsc.bcm.edu	37	chr2	220037444	220037444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccataggtatggtaccagGggctggacagcgcagtgggg	19	8	0	0	rs17655123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220037444G>A	ENST00000409789.1	-	9	1524	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	CNPPD1_ENST00000360507.5_Missense_Mutation_p.P366L|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000396775.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000455516.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	366	Pro-rich.		P -> L (in dbSNP:rs17655123).		regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ATGGTACCAGGGGCTGGACAG	0.597													G|||	446	0.0890575	0.0144	0.1182	5008	,	,		16743	0.1597		0.1322	False		,,,				2504	0.0521				p.P366L		Atlas-SNP	.											.	CNPPD1	22	.	0			c.C1097T						PASS	.	G	LEU/PRO	149,4257	100.3+/-138.9	4,141,2058	51	52	52		1097	5	0	2	dbSNP_123	52	1125,7475	232.5+/-266.1	77,971,3252	yes	missense	CNPPD1	NM_015680.4	98	81,1112,5310	AA,AG,GG		13.0814,3.3818,9.7955	benign	366/411	220037444	1274,11732	2203	4300	6503	SO:0001583	missense	27013	exon8			TACCAGGGGCTGG	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1097C>T	2.37:g.220037444G>A	ENSP00000386277:p.Pro366Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	95	25	0.263158	NM_015680	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	CCDS2433.1	236	0.10805860805860806	9	0.018292682926829267	41	0.1132596685082873	90	0.15734265734265734	96	0.1266490765171504	G	10.74	1.434915	0.25813	0.033818	0.130814	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.38887	1.11;1.11	5.04	5.04	0.67666	.	0.533609	0.20260	N	0.095897	T	0.00144	0.0004	L	0.29908	0.895	0.44762	P	0.0022370000000000445	B	0.20052	0.041	B	0.21917	0.037	T	0.03818	-1.1001	9	0.48119	T	0.1	3.2816	15.2333	0.73407	0.0:0.0:1.0:0.0	rs17655123;rs57490192;rs17655123	366	Q9BV87	CNPD1_HUMAN	L	366	ENSP00000353698:P366L;ENSP00000386277:P366L	ENSP00000353698:P366L	P	-	2	0	CNPPD1	219745688	0.668000	0.27493	0.015000	0.15790	0.404000	0.30871	2.773000	0.47686	2.609000	0.88269	0.655000	0.94253	CCC	A|0.093;G|0.907;T|0.000	0.093	strong		0.597	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		A	220037444	G	A	220037444	3	1	23	1	0	0	0	0	1	0	0	0	2159	1232	43	2	139	2	C2orf24	2	220037444	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	116879	220037444	23161929	782	17238										
FAM134A	79137	hgsc.bcm.edu	37	chr2	220046155	220046155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagagacagagagtgaaagCgaggcagagctggctggctt	17	7	0	4	rs548711754		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220046155C>T	ENST00000430297.2	+	7	985	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18963	0.0		0.0	False		,,,				2504	0.001				p.S283S		Atlas-SNP	.											FAM134A,colon,carcinoma,0,1	FAM134A	34	1	0			c.C849T						PASS	.						56	57	57					2																	220046155		2203	4300	6503	SO:0001819	synonymous_variant	79137	exon7			TGAAAGCGAGGCA	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.849C>T	2.37:g.220046155C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	18	0.243243	NM_024293	Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	CCDS2434.1																																																																																			.	.	none		0.542	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		T	220046155	C	T	220046155	2	4	23	1	0	0	0	0	0	0	0	1	5445	767	27	1		1	FAM134A	2	220046155	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8711	220046155	23153218	783	17239										
FAM134A	79137	hgsc.bcm.edu	37	chr2	220046840	220046840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccgaagacctactaggccGtcctcaagctctgtcaaggc	9	15	3	1	rs3210652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220046840G>A	ENST00000430297.2	+	9	1257	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	374			R -> H (in dbSNP:rs3210652).			integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTACTAGGCCGTCCTCAAGCT	0.607													G|||	477	0.0952476	0.0144	0.121	5008	,	,		17377	0.1706		0.1382	False		,,,				2504	0.0644				p.R374H		Atlas-SNP	.											.	FAM134A	34	.	0			c.G1121A						PASS	.	G	HIS/ARG	142,4264	99.4+/-138.0	4,134,2065	108	116	113		1121	2.8	0.1	2	dbSNP_105	113	1136,7464	235.0+/-267.7	76,984,3240	yes	missense	FAM134A	NM_024293.4	29	80,1118,5305	AA,AG,GG		13.2093,3.2229,9.8262	benign	374/544	220046840	1278,11728	2203	4300	6503	SO:0001583	missense	79137	exon9			TAGGCCGTCCTCA	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1121G>A	2.37:g.220046840G>A	ENSP00000395249:p.Arg374His	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	69	20	0.289855	NM_024293	Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	CCDS2434.1	252	0.11538461538461539	9	0.018292682926829267	42	0.11602209944751381	96	0.16783216783216784	105	0.13852242744063326	G	0.016	-1.529021	0.00951	0.032229	0.132093	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000443518	T;T	0.46451	0.87;1.56	4.79	2.82	0.32997	.	0.845757	0.10489	N	0.668677	T	0.00039	0.0001	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	9	0.16420	T	0.52	1.384	9.1598	0.37016	0.2336:0.6345:0.1318:0.0	rs3210652;rs3731899;rs3210652	167;374	E7EUL4;Q8NC44	.;F134A_HUMAN	H	167;374;167	ENSP00000403898:R167H;ENSP00000395249:R374H	ENSP00000395249:R374H	R	+	2	0	FAM134A	219755084	0.011000	0.17503	0.053000	0.19242	0.013000	0.08279	1.578000	0.36525	1.232000	0.43678	-0.165000	0.13383	CGT	G|0.902;A|0.098	0.098	strong		0.607	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		A	220046840	G	A	220046840	3	1	23	1	0	0	0	0	1	0	0	0	5445	1145	40	1	1155	1	FAM134A	2	220046840	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	685	220046840	23152533	784	17240										
ANKZF1	55139	hgsc.bcm.edu	37	chr2	220100787	220100787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgggagcccctacctctcCaatccctgactctgcaatcg	8	16	2	1	rs2293079	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220100787C>T	ENST00000323348.5	+	13	2201	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	ANKZF1_ENST00000409849.1_Missense_Mutation_p.P466L|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.P676L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	676			P -> L (in dbSNP:rs2293079).			membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACCTCTCCAATCCCTGAC	0.577													c|||	382	0.076278	0.0499	0.0951	5008	,	,		19304	0.0397		0.1163	False		,,,				2504	0.0951				p.P676L		Atlas-SNP	.											.	ANKZF1	45	.	0			c.C2027T						PASS	.	C	LEU/PRO,LEU/PRO	218,3816		5,208,1804	62	64	63		2027,2027	0.4	0	2	dbSNP_100	63	1046,7320		73,900,3210	yes	missense,missense	ANKZF1	NM_001042410.1,NM_018089.2	98,98	78,1108,5014	TT,TC,CC		12.503,5.4041,10.1935	benign,benign	676/727,676/727	220100787	1264,11136	2017	4183	6200	SO:0001583	missense	55139	exon13			CCTCTCCAATCCC	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2027C>T	2.37:g.220100787C>T	ENSP00000321617:p.Pro676Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	70	15	0.214286	NM_001042410	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	178	0.0815018315018315	28	0.056910569105691054	42	0.11602209944751381	24	0.04195804195804196	84	0.11081794195250659	C	1.822	-0.472009	0.04445	0.054041	0.12503	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.27402	1.67;1.87;1.67	5.05	0.449	0.16619	.	1.098760	0.06643	N	0.761364	T	0.00210	0.0006	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	9	0.59425	D	0.04	-1.8475	5.0328	0.14419	0.2545:0.515:0.0:0.2305	rs2293079;rs59264444;rs2293079	676	Q9H8Y5	ANKZ1_HUMAN	L	676;466;676	ENSP00000321617:P676L;ENSP00000386815:P466L;ENSP00000386337:P676L	ENSP00000321617:P676L	P	+	2	0	ANKZF1	219809031	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.168000	0.09925	0.260000	0.21731	0.655000	0.94253	CCA	C|0.912;T|0.088	0.088	strong		0.577	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		T	220100787	C	T	220100787	3	4	23	1	0	0	0	0	1	0	0	0	693	594	21	2	2073	2	ANKZF1	2	220100787	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	53947	220100787	23098586	785	17241										
PTPRN	5798	hgsc.bcm.edu	37	chr2	220162015	220162015	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccggctcctcgcaccaggaCggggtgctgctgtgggagct	17	13	0	0	rs17847406	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220162015C>G	ENST00000295718.2	-	14	2268	c.2028G>C	c.(2026-2028)ccG>ccC	p.P676P	PTPRN_ENST00000423636.2_Silent_p.P586P|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Silent_p.P647P|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	676					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGCACCAGGACGGGGTGCTGC	0.662													C|||	320	0.0638978	0.0234	0.072	5008	,	,		16733	0.0437		0.0895	False		,,,				2504	0.1074				p.P676P		Atlas-SNP	.											PTPRN,NS,carcinoma,-1,1	PTPRN	138	1	0			c.G2028C						PASS	.	C	,,	153,4253	99.4+/-138.0	3,147,2053	53	52	52		1941,1758,2028	-7.8	0.1	2	dbSNP_123	52	870,7730	190.3+/-236.8	51,768,3481	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	,,	54,915,5534	GG,GC,CC		10.1163,3.4725,7.8656	,,	647/951,586/890,676/980	220162015	1023,11983	2203	4300	6503	SO:0001819	synonymous_variant	5798	exon14			CCAGGACGGGGTG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2028G>C	2.37:g.220162015C>G		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	128	31	0.242188	NM_002846	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																			C|0.921;G|0.079	0.079	strong		0.662	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			G	220162015	C	G	220162015	2	3	23	1	0	0	0	0	0	0	0	1	12807	523	19	4		4	PTPRN	2	220162015	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	61228	220162015	23037358	786	17242										
DNPEP	23549	hgsc.bcm.edu	37	chr2	220251685	220251685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagcctggagaaggcggtTgcggcattcagccacagctg	15	12	1	1	rs11539909	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220251685T>G	ENST00000273075.4	-	3	368	c.148A>C	c.(148-150)Aac>Cac	p.N50H	AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000373972.1_Intron|DNPEP_ENST00000523282.1_Missense_Mutation_p.N58H	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	40					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGGCGGTTGCGGCATTCA	0.597													T|||	61	0.0121805	0.0008	0.0058	5008	,	,		18233	0.0		0.0338	False		,,,				2504	0.0225				p.N50H		Atlas-SNP	.											.	DNPEP	40	.	0			c.A148C						PASS	.	T	HIS/ASN	22,3906		0,22,1942	81	83	82		148	2.5	1	2	dbSNP_120	82	243,8037		6,231,3903	yes	missense	DNPEP	NM_012100.2	68	6,253,5845	GG,GT,TT		2.9348,0.5601,2.1707	benign	50/486	220251685	265,11943	1964	4140	6104	SO:0001583	missense	23549	exon3			GGCGGTTGCGGCA		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.148A>C	2.37:g.220251685T>G	ENSP00000273075:p.Asn50His	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	72	57	0.791667	NM_012100	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1	34	0.015567765567765568	0	0.0	3	0.008287292817679558	0	0.0	31	0.040897097625329816	T	9.734	1.163043	0.21538	0.005601	0.029348	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000519905	.	.	.	5.07	2.45	0.29901	.	0.631746	0.17163	N	0.184599	T	0.14442	0.0349	L	0.55481	1.735	0.09310	N	1	B;P;B	0.37122	0.355;0.583;0.355	B;B;B	0.43155	0.297;0.41;0.201	T	0.14531	-1.0469	9	0.62326	D	0.03	-9.2171	11.5346	0.50631	0.0:0.0:0.2536:0.7464	rs11539909;rs11539909	58;50;50	E7ETB3;B7Z822;Q53SB6	.;.;.	H	50;50;58;58;36;50;50;36	.	ENSP00000273075:N50H	N	-	1	0	DNPEP	219959929	0.817000	0.29147	0.998000	0.56505	0.058000	0.15608	0.916000	0.28651	1.907000	0.55213	0.459000	0.35465	AAC	T|0.980;G|0.020	0.020	strong		0.597	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		G	220251685	T	G	220251685	3	3	23	1	0	0	0	0	1	0	0	0	4679	1812	63	5	1361	5	DNPEP	2	220251685	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	89670	220251685	22947688	787	17243										
DES	1674	hgsc.bcm.edu	37	chr2	220285309	220285309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcactgccgccctcagggaCatccgggctcagtatgagac	11	15	3	1	rs1058261	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220285309C>T	ENST00000373960.3	+	4	914	c.828C>T	c.(826-828)gaC>gaT	p.D276D		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	276	Coil 2A.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCTCAGGGACATCCGGGCTC	0.587													C|||	1690	0.33746	0.475	0.3429	5008	,	,		21149	0.1835		0.3648	False		,,,				2504	0.2781				p.D276D		Atlas-SNP	.											.	DES	53	.	0			c.C828T						PASS	.	C		1944,2462	551.4+/-378.3	437,1070,696	70	64	66		828	4.7	1	2	dbSNP_86	66	3057,5543	469.8+/-367.7	567,1923,1810	no	coding-synonymous	DES	NM_001927.3		1004,2993,2506	TT,TC,CC		35.5465,44.1217,38.4515		276/471	220285309	5001,8005	2203	4300	6503	SO:0001819	synonymous_variant	1674	exon4			CAGGGACATCCGG	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.828C>T	2.37:g.220285309C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	121	95	0.785124	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	CCDS33383.1																																																																																			C|0.634;T|0.366	0.366	strong		0.587	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		T	220285309	C	T	220285309	2	4	23	1	0	0	0	0	0	0	0	1	4449	477	17	2		2	DES	2	220285309	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	33624	220285309	22914064	788	17244										
DES	1674	hgsc.bcm.edu	37	chr2	220286142	220286142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctaccaggacaacattgcGcgcctggaggaggaaatccg	14	11	0	0	rs1058284	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220286142G>A	ENST00000373960.3	+	6	1190	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	368	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACAACATTGCGCGCCTGGAGG	0.597													G|||	1671	0.333666	0.4607	0.3429	5008	,	,		17124	0.1835		0.3648	False		,,,				2504	0.2781				p.A368A		Atlas-SNP	.											DES,right_upper_lobe,carcinoma,+1,1	DES	53	1	0			c.G1104A						PASS	.	G		1945,2461	551.7+/-378.3	442,1061,700	60	59	60		1104	-10.2	0	2	dbSNP_86	60	3055,5545	469.1+/-367.5	567,1921,1812	no	coding-synonymous	DES	NM_001927.3		1009,2982,2512	AA,AG,GG		35.5233,44.1443,38.4438		368/471	220286142	5000,8006	2203	4300	6503	SO:0001819	synonymous_variant	1674	exon6			CATTGCGCGCCTG	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1104G>A	2.37:g.220286142G>A		Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	89	64	0.719101	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	CCDS33383.1																																																																																			G|0.640;A|0.360	0.360	strong		0.597	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		A	220286142	G	A	220286142	2	1	23	1	0	0	0	0	0	0	0	1	4449	1074	38	1		1	DES	2	220286142	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	833	220286142	22913231	789	17245										
SPEG	10290	hgsc.bcm.edu	37	chr2	220348751	220348751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcccccaaacccagtacccCtaagtctgcagaaccttctg	6	18	2	1	rs10755037	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220348751C>T	ENST00000312358.7	+	30	6698	c.6566C>T	c.(6565-6567)cCt>cTt	p.P2189L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2189	Pro-rich.		P -> L (in dbSNP:rs10755037).		cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGTACCCCTAAGTCTGCA	0.662													C|||	1430	0.285543	0.289	0.2738	5008	,	,		13041	0.1448		0.2694	False		,,,				2504	0.4509				p.P2189L		Atlas-SNP	.											SPEG,NS,carcinoma,0,2	SPEG	272	2	0			c.C6566T						scavenged	.	C	LEU/PRO	1072,3052		152,768,1142	39	49	46		6566	1.9	0	2	dbSNP_120	46	2065,6317		271,1523,2397	yes	missense	SPEG	NM_005876.4	98	423,2291,3539	TT,TC,CC		24.6361,25.9942,25.084	benign	2189/3268	220348751	3137,9369	2062	4191	6253	SO:0001583	missense	10290	exon30			GTACCCCTAAGTC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6566C>T	2.37:g.220348751C>T	ENSP00000311684:p.Pro2189Leu	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	43	9	0.209302	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	529	0.24221611721611722	129	0.2621951219512195	107	0.2955801104972376	92	0.16083916083916083	201	0.26517150395778366	C	0.010	-1.750379	0.00669	0.259942	0.246361	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64991	-0.13	3.72	1.85	0.25348	.	0.416002	0.17647	N	0.166837	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	9	0.51188	T	0.08	.	10.7058	0.45954	0.0:0.8205:0.0:0.1795	rs10755037	2189	Q15772	SPEG_HUMAN	L	2189	ENSP00000311684:P2189L	ENSP00000265327:P2189L	P	+	2	0	SPEG	220056995	0.482000	0.25948	0.008000	0.14137	0.002000	0.02628	2.969000	0.49232	0.351000	0.24027	-1.901000	0.00528	CCT	A|0.000;C|0.753;G|0.000;T|0.247	0.247	strong		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220348751	C	T	220348751	3	4	23	1	0	0	0	0	1	0	0	0	15035	681	24	2	6696	2	SPEG	2	220348751	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	62609	220348751	22850622	790	17246										
SPEG	10290	hgsc.bcm.edu	37	chr2	220353013	220353013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcggcctgccctgcaccGcacatctcctggatgaaagg	11	16	1	1	rs875098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220353013G>A	ENST00000312358.7	+	32	7971	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2613	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCTGCACCGCACATCTCCT	0.642													G|||	1434	0.286342	0.2905	0.2709	5008	,	,		19669	0.1468		0.2724	False		,,,				2504	0.4499				p.P2613P		Atlas-SNP	.											.	SPEG	272	.	0			c.G7839A						PASS	.	G		1078,3026		146,786,1120	43	46	45		7839	1.3	1	2	dbSNP_86	45	2129,6277		274,1581,2348	no	coding-synonymous	SPEG	NM_005876.4		420,2367,3468	AA,AG,GG		25.3271,26.2671,25.6355		2613/3268	220353013	3207,9303	2052	4203	6255	SO:0001819	synonymous_variant	10290	exon32			TGCACCGCACATC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7839G>A	2.37:g.220353013G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	51	14	0.27451	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																			G|0.747;A|0.253	0.253	strong		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220353013	G	A	220353013	2	1	23	1	0	0	0	0	0	0	0	1	15035	1074	38	1		1	SPEG	2	220353013	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4262	220353013	22846360	791	17247										
SPEG	10290	hgsc.bcm.edu	37	chr2	220353532	220353532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctagctcctccagaggtaCcccagacctaccaggacacg	9	16	0	2	rs13026308	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220353532C>A	ENST00000312358.7	+	34	8191	c.8059C>A	c.(8059-8061)Ccc>Acc	p.P2687T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2687	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> T (in dbSNP:rs13026308). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:15185077, ECO:0000269|PubMed:17344846}.		cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCAGAGGTACCCCAGACCTA	0.612													C|||	423	0.0844649	0.0144	0.1398	5008	,	,		15942	0.0456		0.1511	False		,,,				2504	0.1115				p.P2687T		Atlas-SNP	.											.	SPEG	272	.	0			c.C8059A						PASS	.	C	THR/PRO	105,3903		2,101,1901	25	28	27		8059	4.4	1	2	dbSNP_121	27	1078,7246		61,956,3145	yes	missense	SPEG	NM_005876.4	38	63,1057,5046	AA,AC,CC		12.9505,2.6198,9.5929	probably-damaging	2687/3268	220353532	1183,11149	2004	4162	6166	SO:0001583	missense	10290	exon34			GAGGTACCCCAGA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8059C>A	2.37:g.220353532C>A	ENSP00000311684:p.Pro2687Thr	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	172	127	0.738372	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	197	0.0902014652014652	13	0.026422764227642278	42	0.11602209944751381	24	0.04195804195804196	118	0.15567282321899736	C	13.22	2.173152	0.38413	0.026198	0.129505	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.48836	0.8	4.38	4.38	0.52667	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.37012	N	0.002295	T	0.00300	0.0009	L	0.35414	1.06	0.09310	P	1.0	D	0.69078	0.997	P	0.60789	0.879	T	0.02220	-1.1193	9	0.35671	T	0.21	.	14.4358	0.67279	0.0:0.8523:0.1477:0.0	rs13026308;rs59720840;rs13026308	2687	Q15772	SPEG_HUMAN	T	2687	ENSP00000311684:P2687T	ENSP00000265327:P2687T	P	+	1	0	SPEG	220061776	0.993000	0.37304	0.999000	0.59377	0.987000	0.75469	3.087000	0.50167	2.272000	0.75746	0.563000	0.77884	CCC	C|0.913;A|0.087	0.087	strong		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220353532	C	A	220353532	3	1	23	1	0	0	0	0	1	0	0	0	15035	507	18	4	8205	4	SPEG	2	220353532	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	519	220353532	22845841	792	17248										
SPEG	10290	hgsc.bcm.edu	37	chr2	220354365	220354365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagtgagcccaagcctttCgtccttgacactgggacccc	9	16	0	2	rs56132883	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220354365C>T	ENST00000312358.7	+	36	8757	c.8625C>T	c.(8623-8625)ttC>ttT	p.F2875F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2875	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAAGCCTTTCGTCCTTGACA	0.607													C|||	1435	0.286542	0.2905	0.2723	5008	,	,		10793	0.1468		0.2734	False		,,,				2504	0.4489				p.F2875F		Atlas-SNP	.											.	SPEG	272	.	0			c.C8625T						PASS	.	C		1047,2959		145,757,1101	133	142	139		8625	-3.5	0.4	2	dbSNP_129	139	2113,6187		273,1567,2310	no	coding-synonymous	SPEG	NM_005876.4		418,2324,3411	TT,TC,CC		25.4578,26.1358,25.6785		2875/3268	220354365	3160,9146	2003	4150	6153	SO:0001819	synonymous_variant	10290	exon36			GCCTTTCGTCCTT	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8625C>T	2.37:g.220354365C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	106	25	0.235849	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																			C|0.748;T|0.252	0.252	strong		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220354365	C	T	220354365	2	4	23	1	0	0	0	0	0	0	0	1	15035	883	31	1		1	SPEG	2	220354365	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	833	220354365	22845008	793	17249										
ACCN4	55515	hgsc.bcm.edu	37	chr2	220399951	220399951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaccccctgcaacctgacAcgctatgggaaagagatctc	8	16	1	2	rs2276643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220399951A>G	ENST00000347842.3	+	5	1472	c.1458A>G	c.(1456-1458)acA>acG	p.T486T	ASIC4_ENST00000358078.4_Silent_p.T505T	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	486					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GCAACCTGACACGCTATGGGA	0.607													G|||	1297	0.258986	0.466	0.2723	5008	,	,		16038	0.1468		0.2008	False		,,,				2504	0.1452				p.T486T		Atlas-SNP	.											.	.	.	.	0			c.A1458G						PASS	.	G	,	1906,2500	626.8+/-394.8	412,1082,709	57	50	52		1515,1458	-8.9	0.1	2	dbSNP_100	52	1724,6876	736.5+/-407.0	185,1354,2761	no	coding-synonymous,coding-synonymous	ACCN4	NM_018674.4,NM_182847.2	,	597,2436,3470	GG,GA,AA		20.0465,43.2592,27.9102	,	505/667,486/648	220399951	3630,9376	2203	4300	6503	SO:0001819	synonymous_variant	55515	exon5			CCTGACACGCTAT	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1458A>G	2.37:g.220399951A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	58	49	0.844828	NM_182847	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																			A|0.731;G|0.268	0.268	strong		0.607	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		G	220399951	A	G	220399951	2	3	23	1	0	0	0	0	0	0	0	1	131	146	6	2		2	ACCN4	2	220399951	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	45586	220399951	22799422	794	17250										
ACCN4	55515	hgsc.bcm.edu	37	chr2	220402665	220402665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcctgcagagtccctgccCgagccggggccgagtggagg	16	14	1	1	rs6436153	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:220402665C>A	ENST00000347842.3	+	9	1855	c.1841C>A	c.(1840-1842)cCg>cAg	p.P614Q	ASIC4_ENST00000358078.4_Missense_Mutation_p.P633Q	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	614			P -> Q (in dbSNP:rs6436153).		ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										AGTCCCTGCCCGAGCCGGGGC	0.637													C|||	779	0.155551	0.1422	0.2248	5008	,	,		15505	0.0982		0.1968	False		,,,				2504	0.1411				p.P614Q		Atlas-SNP	.											.	.	.	.	0			c.C1841A						PASS	.	C	GLN/PRO,GLN/PRO	684,3720		57,570,1575	21	23	22		1898,1841	1.9	0.3	2	dbSNP_116	22	1618,6982		161,1296,2843	yes	missense,missense	ACCN4	NM_018674.4,NM_182847.2	76,76	218,1866,4418	AA,AC,CC		18.814,15.5313,17.7022	probably-damaging,probably-damaging	633/667,614/648	220402665	2302,10702	2202	4300	6502	SO:0001583	missense	55515	exon9			CCTGCCCGAGCCG	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1841C>A	2.37:g.220402665C>A	ENSP00000326627:p.Pro614Gln	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	34	24	0.705882	NM_182847	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	361	0.1652930402930403	80	0.16260162601626016	64	0.17679558011049723	60	0.1048951048951049	157	0.20712401055408972	C	3.940	-0.014423	0.07681	0.155313	0.18814	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.61392	0.11;0.12	4.77	1.94	0.25998	.	0.345630	0.21302	N	0.076785	T	0.00039	0.0001	N	0.22421	0.69	0.46564	P	8.920000000000039E-4	B;B	0.20052	0.024;0.041	B;B	0.19391	0.011;0.025	T	0.11421	-1.0588	9	0.17832	T	0.49	-0.4723	4.8445	0.13507	0.4068:0.427:0.0:0.1661	rs6436153;rs6436153	614;633	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	Q	614;633	ENSP00000326627:P614Q;ENSP00000350786:P633Q	ENSP00000326627:P614Q	P	+	2	0	ACCN4	220110909	0.027000	0.19231	0.315000	0.25238	0.229000	0.25112	0.221000	0.17680	0.308000	0.22923	-0.126000	0.14955	CCG	C|0.841;A|0.159	0.159	strong		0.637	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		A	220402665	C	A	220402665	3	1	23	1	0	0	0	0	1	0	0	0	131	652	23	4	1936	4	ACCN4	2	220402665	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2714	220402665	22796708	795	17251										
EPHA4	2043	hgsc.bcm.edu	37	chr2	222301160	222301160	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggatcatcctcaagcactcGggacatgccaaaatcagaca	8	13	3	1	rs56159060		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:222301160G>T	ENST00000281821.2	-	13	2346	c.2305C>A	c.(2305-2307)Cga>Aga	p.R769R	EPHA4_ENST00000409938.1_Silent_p.R769R|EPHA4_ENST00000409854.1_Silent_p.R769R|EPHA4_ENST00000392071.4_Silent_p.R718R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAAGCACTCGGGACATGCCA	0.488																																					p.R769R		Atlas-SNP	.											.	EPHA4	263	.	0			c.C2305A						PASS	.						101	83	89					2																	222301160		2203	4300	6503	SO:0001819	synonymous_variant	2043	exon13			GCACTCGGGACAT	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2305C>A	2.37:g.222301160G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	71	16	0.225352	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	CCDS2447.1																																																																																			.	.	weak		0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			T	222301160	G	T	222301160	2	4	23	1	0	0	0	0	0	0	0	1	5169	1124	39	4		4	EPHA4	2	222301160	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1898495	222301160	20898213	796	17252										
SERPINE2	5270	hgsc.bcm.edu	37	chr2	224866387	224866387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtatctcatcaccatggcGagctgcttcttggtcctgcc	9	15	3	0	rs12138	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:224866387G>A	ENST00000258405.4	-	2	473	c.231C>T	c.(229-231)ctC>ctT	p.L77L	SERPINE2_ENST00000409840.3_Silent_p.L77L|SERPINE2_ENST00000447280.2_Silent_p.L89L|SERPINE2_ENST00000409304.1_Silent_p.L77L	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	77					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCACCATGGCGAGCTGCTTCT	0.577													G|||	1011	0.201877	0.236	0.1744	5008	,	,		17987	0.244		0.0994	False		,,,				2504	0.2372				p.L89L		Atlas-SNP	.											.	SERPINE2	103	.	0			c.C267T						PASS	.	G	,,	949,3457	360.9+/-315.4	90,769,1344	79	69	73		231,267,231	0.6	0.3	2	dbSNP_52	73	835,7765	192.7+/-238.6	36,763,3501	no	coding-synonymous,coding-synonymous,coding-synonymous	SERPINE2	NM_001136528.1,NM_001136530.1,NM_006216.3	,,	126,1532,4845	AA,AG,GG		9.7093,21.5388,13.7167	,,	77/398,89/410,77/399	224866387	1784,11222	2203	4300	6503	SO:0001819	synonymous_variant	5270	exon2			CATGGCGAGCTGC	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.231C>T	2.37:g.224866387G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																			T|0.040;G|0.683;C|0.156;A|0.120	0.120	strong		0.577	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		A	224866387	G	A	224866387	2	1	23	1	0	0	0	0	0	0	0	1	14112	1045	37	1		1	SERPINE2	2	224866387	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2565227	224866387	18332986	797	17253										
SERPINE2	5270	hgsc.bcm.edu	37	chr2	224866576	224866576	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggagcagatggaaggcagCgtcacagaggccaagaggaa	17	7	1	3	rs12436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:224866576C>A	ENST00000258405.4	-	2	284	c.42G>T	c.(40-42)acG>acT	p.T14T	SERPINE2_ENST00000409840.3_Silent_p.T14T|SERPINE2_ENST00000447280.2_Silent_p.T26T|SERPINE2_ENST00000409304.1_Silent_p.T14T	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	14					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGAAGGCAGCGTCACAGAGG	0.478													C|||	1189	0.23742	0.351	0.1844	5008	,	,		17072	0.244		0.1123	False		,,,				2504	0.2434				p.T26T		Atlas-SNP	.											SERPINE2_ENST00000447280,NS,carcinoma,-1,2	SERPINE2	103	2	0			c.G78T						scavenged	.	C	,,	1318,3088	442.9+/-346.8	186,946,1071	100	112	108		42,78,42	-2	0.2	2	dbSNP_52	108	905,7695	202.4+/-245.7	41,823,3436	no	coding-synonymous,coding-synonymous,coding-synonymous	SERPINE2	NM_001136528.1,NM_001136530.1,NM_006216.3	,,	227,1769,4507	AA,AC,CC		10.5233,29.9138,17.0921	,,	14/398,26/410,14/399	224866576	2223,10783	2203	4300	6503	SO:0001819	synonymous_variant	5270	exon2			AGGCAGCGTCACA	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.42G>T	2.37:g.224866576C>A		Somatic	56	1	0.0178571		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																			C|0.805;A|0.195	0.195	strong		0.478	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		A	224866576	C	A	224866576	2	1	23	1	0	0	0	0	0	0	0	1	14112	755	27	4		4	SERPINE2	2	224866576	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	189	224866576	18332797	798	17254										
IRS1	3667	hgsc.bcm.edu	37	chr2	227660544	227660544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcaaatgctagcagcccCgggaggtgcagggcccagtc	14	14	0	0	rs1801278	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:227660544C>T	ENST00000305123.5	-	1	3931	c.2911G>A	c.(2911-2913)Ggg>Agg	p.G971R	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	971			G -> R (in dbSNP:rs1801278). {ECO:0000269|PubMed:14671192, ECO:0000269|PubMed:14707024, ECO:0000269|PubMed:15590636, ECO:0000269|PubMed:8104271}.		cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTAGCAGCCCCGGGAGGTGCA	0.652													C|||	266	0.053115	0.0635	0.0317	5008	,	,		17610	0.0228		0.0855	False		,,,				2504	0.0521				p.G971R		Atlas-SNP	.											.	IRS1	141	.	0			c.G2911A	GRCh37	CM930444	IRS1	M	rs1801278	PASS	.	C	ARG/GLY	255,4151		9,237,1957	41	48	46	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2911	5.4	0.6	2	dbSNP_89	46	566,8034		27,512,3761	yes	missense	IRS1	NM_005544.2	125	36,749,5718	TT,TC,CC		6.5814,5.7876,6.3125	probably-damaging	971/1243	227660544	821,12185	2203	4300	6503	SO:0001583	missense	3667	exon1			CAGCCCCGGGAGG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2911G>A	2.37:g.227660544C>T	ENSP00000304895:p.Gly971Arg	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	54	40	0.740741	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	117	0.05357142857142857	36	0.07317073170731707	10	0.027624309392265192	15	0.026223776223776224	56	0.07387862796833773	C	14.51	2.556395	0.45487	0.057876	0.065814	ENSG00000169047	ENST00000305123	T	0.57273	0.41	5.39	5.39	0.77823	.	0.244505	0.30639	N	0.009181	T	0.02455	0.0075	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	P	0.40360	0.714	B	0.21151	0.033	T	0.14392	-1.0474	9	0.23302	T	0.38	-19.979	18.0965	0.89492	0.0:1.0:0.0:0.0	rs1801278;rs3769648;rs1801278	971	P35568	IRS1_HUMAN	R	971	ENSP00000304895:G971R	ENSP00000304895:G971R	G	-	1	0	IRS1	227368788	0.144000	0.22641	0.575000	0.28536	0.839000	0.47603	1.352000	0.34033	2.804000	0.96469	0.655000	0.94253	GGG	T|0.061;C|0.939	0.061	strong		0.652	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227660544	C	T	227660544	3	4	23	1	0	0	0	0	1	0	0	0	7840	652	23	1	821	1	IRS1	2	227660544	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2793968	227660544	15538829	799	17255										
IRS1	3667	hgsc.bcm.edu	37	chr2	227662753	227662753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacctgcatccagaactcCccgggccccgtcacggcaga	9	19	1	2	rs2234931	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:227662753C>T	ENST00000305123.5	-	1	1722	c.702G>A	c.(700-702)ggG>ggA	p.G234G	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	234	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCCAGAACTCCCCGGGCCCCG	0.622											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	265	0.0529153	0.0628	0.0317	5008	,	,		17205	0.0228		0.0855	False		,,,				2504	0.0521				p.G234G		Atlas-SNP	.											IRS1,rectum,carcinoma,-2,1	IRS1	141	1	0			c.G702A						PASS	.	C		256,4150	146.9+/-181.5	8,240,1955	82	91	88		702	2.9	1	2	dbSNP_98	88	576,8024	154.3+/-208.6	28,520,3752	no	coding-synonymous	IRS1	NM_005544.2		36,760,5707	TT,TC,CC		6.6977,5.8103,6.397		234/1243	227662753	832,12174	2203	4300	6503	SO:0001819	synonymous_variant	3667	exon1			GAACTCCCCGGGC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.702G>A	2.37:g.227662753C>T		Somatic	99	0	0	2321	WXS	Illumina HiSeq	Phase_I	67	47	0.701493	NM_005544		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																			C|0.941;T|0.059	0.059	strong		0.622	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227662753	C	T	227662753	2	4	23	1	0	0	0	0	0	0	0	1	7840	610	22	2		2	IRS1	2	227662753	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2209	227662753	15536620	800	17256										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228102723	228102723	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggccagtgcttctgtgacGgggccaaaggggagaaggta	17	7	1	2	rs13424243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:228102723G>C	ENST00000396578.3	+	2	289	c.127G>C	c.(127-129)Ggg>Cgg	p.G43R	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	43	Triple-helical region.		G -> R (in dbSNP:rs13424243). {ECO:0000269|PubMed:11134255}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTTCTGTGACGGGGCCAAAGG	0.438													G|||	1153	0.230232	0.32	0.2637	5008	,	,		16895	0.0516		0.3539	False		,,,				2504	0.1421				p.G43R		Atlas-SNP	.											.	COL4A3	293	.	0			c.G127C						PASS	.	G	ARG/GLY	1134,2566		174,786,890	179	172	174		127	4.3	0	2	dbSNP_121	174	3032,5134		579,1874,1630	yes	missense	COL4A3	NM_000091.4	125	753,2660,2520	CC,CG,GG		37.1296,30.6486,35.1087	probably-damaging	43/1671	228102723	4166,7700	1850	4083	5933	SO:0001583	missense	1285	exon2			TGTGACGGGGCCA		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.127G>C	2.37:g.228102723G>C	ENSP00000379823:p.Gly43Arg	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	89	89	1	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	542	0.24816849816849818	141	0.2865853658536585	98	0.27071823204419887	38	0.06643356643356643	265	0.3496042216358839	G	16.02	3.004856	0.54254	0.306486	0.371296	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97959	-4.63	5.2	4.31	0.51392	.	0.224868	0.31312	N	0.007879	T	0.00039	0.0001	H	0.96604	3.85	0.54753	P	1.2000000000012001E-5	D;D;D;D	0.89917	1.0;0.992;1.0;1.0	D;P;D;D	0.85130	0.979;0.884;0.993;0.997	T	0.00000	-1.8170	9	0.72032	D	0.01	.	9.7845	0.40668	0.0961:0.0:0.9039:0.0	rs13424243;rs52831477;rs57911954;rs13424243	43;43;43;43	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	43	ENSP00000379823:G43R	ENSP00000323334:G43R	G	+	1	0	COL4A3	227810967	0.254000	0.23992	0.011000	0.14972	0.089000	0.18198	1.245000	0.32790	1.315000	0.45114	0.467000	0.42956	GGG	G|0.734;C|0.266	0.266	strong		0.438	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		C	228102723	G	C	228102723	3	2	23	1	0	0	0	0	1	0	0	0	3691	1116	39	4	133	4	COL4A3	2	228102723	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	439970	228102723	15096650	801	17257										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228135631	228135631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatggaattcctggaactcCgggagtgaaaggattaccag	14	7	0	1	rs28381984	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:228135631C>T	ENST00000396578.3	+	25	1883	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	574	Triple-helical region.		P -> L (in dbSNP:rs28381984). {ECO:0000269|PubMed:8083201}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAACTCCGGGAGTGAAA	0.507													C|||	2003	0.39996	0.152	0.4409	5008	,	,		17505	0.4752		0.4732	False		,,,				2504	0.5532				p.P574L		Atlas-SNP	.											COL4A3_ENST00000328380,NS,carcinoma,-1,2	COL4A3	293	2	0			c.C1721T						PASS	.	C	LEU/PRO	782,2936		92,598,1169	54	58	56		1721	5.8	0.1	2	dbSNP_125	56	3848,4336		917,2014,1161	yes	missense	COL4A3	NM_000091.4	98	1009,2612,2330	TT,TC,CC		47.0186,21.0328,38.901	probably-damaging	574/1671	228135631	4630,7272	1859	4092	5951	SO:0001583	missense	1285	exon25			GAACTCCGGGAGT		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1721C>T	2.37:g.228135631C>T	ENSP00000379823:p.Pro574Leu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	77	59	0.766234	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	856	0.39194139194139194	81	0.16463414634146342	161	0.4447513812154696	266	0.46503496503496505	348	0.45910290237467016	C	19.26	3.793365	0.70452	0.210328	0.470186	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93076	-3.16	5.8	5.8	0.92144	.	0.108401	0.41605	D	0.000847	T	0.00012	0.0000	M	0.77103	2.36	0.09310	P	0.999999516562	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.944;0.987;1.0;0.998	T	0.00000	-1.3321	9	0.59425	D	0.04	.	16.9678	0.86290	0.0:1.0:0.0:0.0	rs28381984;rs58545005;rs28381984	574;574;574;574	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	574	ENSP00000379823:P574L	ENSP00000323334:P574L	P	+	2	0	COL4A3	227843875	0.367000	0.25023	0.130000	0.21974	0.769000	0.43574	2.193000	0.42658	2.740000	0.93945	0.650000	0.86243	CCG	C|0.604;T|0.396	0.396	strong		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228135631	C	T	228135631	3	4	23	1	0	0	0	0	1	0	0	0	3691	652	23	1	1819	1	COL4A3	2	228135631	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	32908	228135631	15063742	802	17258										
SPHKAP	80309	hgsc.bcm.edu	37	chr2	228855866	228855866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagcaggctcctctggggGctggctgttcccgtaggcgg	16	13	1	0	rs16824283	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:228855866G>C	ENST00000392056.3	-	11	4855	c.4809C>G	c.(4807-4809)agC>agG	p.S1603R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1574R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1603			S -> R (in dbSNP:rs16824283).			extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTCTGGGGGCTGGCTGTTC	0.577													G|||	879	0.175519	0.0303	0.1931	5008	,	,		14524	0.2282		0.3022	False		,,,				2504	0.1748				p.S1603R		Atlas-SNP	.											SPHKAP_ENST00000392056,colon,carcinoma,0,2	SPHKAP	750	2	0			c.C4809G						PASS	.	G	ARG/SER,ARG/SER	296,4110	158.9+/-191.5	11,274,1918	43	45	44		4809,4722	-2.2	0	2	dbSNP_123	44	2318,6282	381.5+/-340.0	321,1676,2303	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	110,110	332,1950,4221	CC,CG,GG		26.9535,6.7181,20.0984	probably-damaging,probably-damaging	1603/1701,1574/1672	228855866	2614,10392	2203	4300	6503	SO:0001583	missense	80309	exon11			CTGGGGGCTGGCT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4809C>G	2.37:g.228855866G>C	ENSP00000375909:p.Ser1603Arg	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	170	70	0.411765	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	435	0.19917582417582416	17	0.034552845528455285	77	0.212707182320442	120	0.2097902097902098	221	0.29155672823219	G	11.64	1.699048	0.30142	0.067181	0.269535	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06608	3.28;3.28	6.17	-2.19	0.07015	A-kinase anchor 110kDa, C-terminal (1);	0.300797	0.43919	D	0.000501	T	0.00012	0.0000	L	0.48362	1.52	0.80722	P	0.0	D;P	0.54397	0.966;0.935	P;P	0.55923	0.787;0.613	T	0.19614	-1.0300	9	0.59425	D	0.04	.	13.8991	0.63792	0.6506:0.0:0.3494:0.0	rs16824283;rs16824283	1603;1574	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	1603;1574	ENSP00000375909:S1603R;ENSP00000339886:S1574R	ENSP00000339886:S1574R	S	-	3	2	SPHKAP	228564110	0.088000	0.21588	0.000000	0.03702	0.090000	0.18270	0.210000	0.17455	-0.511000	0.06514	-0.137000	0.14449	AGC	G|0.803;C|0.197	0.197	strong		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		C	228855866	G	C	228855866	3	2	23	1	0	0	0	0	1	0	0	0	15047	1194	42	4	301	4	SPHKAP	2	228855866	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	720235	228855866	14343507	803	17259										
SP110	3431	hgsc.bcm.edu	37	chr2	231077110	231077110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctcttctgagtcttcttCcgcattcattttggatgtta	6	10	5	1	rs9061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:231077110C>T	ENST00000358662.4	-	5	697	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	SP110_ENST00000258381.6_Missense_Mutation_p.E207K|SP110_ENST00000540870.1_Missense_Mutation_p.E213K|SP110_ENST00000258382.5_Missense_Mutation_p.E207K|SP110_ENST00000392048.3_Missense_Mutation_p.E207K|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	207			E -> K (in dbSNP:rs9061). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16803959, ECO:0000269|PubMed:16816019}.		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)	p.E207K(1)		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)		GAGTCTTCTTCCGCATTCATT	0.473													C|||	654	0.130591	0.0681	0.0476	5008	,	,		21909	0.1726		0.0895	False		,,,				2504	0.273				p.E213K		Atlas-SNP	.											SP110,NS,carcinoma,0,1	SP110	105	1	1	Substitution - Missense(1)	stomach(1)	c.G637A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	342,4064	178.3+/-207.1	16,310,1877	228	176	194		637,619,619,619	-4.6	0	2	dbSNP_52	194	807,7793	188.4+/-235.4	36,735,3529	yes	missense,missense,missense,missense	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	56,56,56,56	52,1045,5406	TT,TC,CC		9.3837,7.7621,8.8344	benign,benign,benign,benign	213/556,207/690,207/550,207/714	231077110	1149,11857	2203	4300	6503	SO:0001583	missense	3431	exon6			CTTCTTCCGCATT	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.619G>A	2.37:g.231077110C>T	ENSP00000351488:p.Glu207Lys	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	206	110	0.533981	NM_001185015	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	253	0.11584249084249085	39	0.07926829268292683	24	0.06629834254143646	120	0.2097902097902098	70	0.09234828496042216	C	2.728	-0.265138	0.05754	0.077621	0.093837	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815	T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88	3.35	-4.55	0.03441	.	1.847310	0.02978	N	0.145246	T	0.00012	0.0000	N	0.02916	-0.46	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.20887	0.02;0.02;0.012;0.049	B;B;B;B	0.12837	0.008;0.008;0.002;0.008	T	0.41288	-0.9517	9	0.14252	T	0.57	.	5.2135	0.15331	0.0:0.2108:0.2935:0.4958	rs9061;rs1047241;rs1804028;rs3172149;rs11556888;rs52833597	207;213;207;207	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	K	207;207;207;207;213;207	ENSP00000258381:E207K;ENSP00000351488:E207K;ENSP00000375902:E207K;ENSP00000258382:E207K;ENSP00000439558:E213K;ENSP00000387172:E207K	ENSP00000258381:E207K	E	-	1	0	SP110	230785354	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.451000	0.06795	-1.181000	0.02730	-1.109000	0.02080	GAA	C|0.895;T|0.105	0.105	strong		0.473	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		T	231077110	C	T	231077110	3	4	23	1	0	0	0	0	1	0	0	0	14961	864	30	2	1646	2	SP110	2	231077110	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2221244	231077110	12122263	804	17260										
SP110	3431	hgsc.bcm.edu	37	chr2	231077676	231077676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatggagggagcttccttctGctaggccagttggggcttca	14	9	2	0	rs11556887|rs397693036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:231077676G>A	ENST00000358662.4	-	4	461	c.383C>T	c.(382-384)gCa>gTa	p.A128V	SP110_ENST00000258381.6_Missense_Mutation_p.A128V|SP110_ENST00000540870.1_Missense_Mutation_p.A134V|SP110_ENST00000258382.5_Missense_Mutation_p.A128V|SP110_ENST00000392048.3_Missense_Mutation_p.A128V|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'Flank	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	128			A -> V (in dbSNP:rs11556887). {ECO:0000269|PubMed:16816019}.		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)	p.A128V(1)		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)		GCTTCCTTCTGCTAGGCCAGT	0.567													G|||	484	0.0966454	0.0166	0.049	5008	,	,		16828	0.0764		0.0875	False		,,,				2504	0.2689				p.A134V		Atlas-SNP	.											SP110,NS,carcinoma,0,1	SP110	105	1	1	Substitution - Missense(1)	stomach(1)	c.C401T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	123,4283	92.0+/-130.7	2,119,2082	93	92	93		401,383,383,383	-1.1	0	2	dbSNP_120	93	805,7795	187.9+/-235.0	36,733,3531	yes	missense,missense,missense,missense	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	64,64,64,64	38,852,5613	AA,AG,GG		9.3605,2.7916,7.1352	probably-damaging,probably-damaging,probably-damaging,probably-damaging	134/556,128/690,128/550,128/714	231077676	928,12078	2203	4300	6503	SO:0001583	missense	3431	exon5			CCTTCTGCTAGGC	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.383C>T	2.37:g.231077676G>A	ENSP00000351488:p.Ala128Val	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	269	141	0.524164	NM_001185015	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	146	0.06684981684981685	7	0.014227642276422764	24	0.06629834254143646	47	0.08216783216783216	68	0.08970976253298153	G	16.05	3.013296	0.54468	0.027916	0.093605	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815;ENST00000455674	T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03	4.11	-1.09	0.09904	.	0.193316	0.25704	N	0.028844	T	0.00496	0.0016	L	0.58101	1.795	0.09310	N	0.999999	P;P;D;D	0.76494	0.762;0.762;0.998;0.999	B;B;P;D	0.68765	0.282;0.282;0.896;0.96	T	0.12993	-1.0526	10	0.30078	T	0.28	.	1.4596	0.02393	0.1903:0.3143:0.3343:0.1611	rs11556887;rs56849823;rs11556887	128;134;128;128	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	V	128;128;128;128;134;128;82	ENSP00000258381:A128V;ENSP00000351488:A128V;ENSP00000375902:A128V;ENSP00000258382:A128V;ENSP00000439558:A134V;ENSP00000387172:A128V;ENSP00000393992:A82V	ENSP00000258381:A128V	A	-	2	0	SP110	230785920	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.122000	0.15687	-0.221000	0.09973	0.650000	0.86243	GCA	G|0.925;A|0.075	0.075	strong		0.567	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		A	231077676	G	A	231077676	3	1	23	1	0	0	0	0	1	0	0	0	14961	1319	46	2	1886	2	SP110	2	231077676	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	566	231077676	12121697	805	17261										
SP140	11262	hgsc.bcm.edu	37	chr2	231110582	231110582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctttcactctgcagtgtcCtgtaaacttgctatacaaat	5	11	3	0	rs28445040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:231110582C>T	ENST00000392045.3	+	7	783	c.669C>T	c.(667-669)tcC>tcT	p.S223S	SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Silent_p.S220S|SP140_ENST00000350136.5_Silent_p.S203S|SP140_ENST00000420434.3_Silent_p.S223S|SP140_ENST00000343805.6_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	223					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCAGTGTCCTGTAAACTTG	0.403													C|||	546	0.109026	0.1142	0.1124	5008	,	,		22407	0.001		0.168	False		,,,				2504	0.1503				p.S223S		Atlas-SNP	.											.	SP140	121	.	0			c.C669T						PASS	.	C		419,3421		19,381,1520	119	107	110		669	-0.1	0	2	dbSNP_125	110	1521,6763		123,1275,2744	no	coding-synonymous	SP140	NM_007237.4		142,1656,4264	TT,TC,CC		18.3607,10.9115,16.0013		223/868	231110582	1940,10184	1920	4142	6062	SO:0001819	synonymous_variant	11262	exon7			AGTGTCCTGTAAA	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.669C>T	2.37:g.231110582C>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	188	64	0.340426	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																			C|0.854;T|0.146	0.146	strong		0.403	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231110582	C	T	231110582	2	4	23	1	0	0	0	0	0	0	0	1	14962	668	24	2		2	SP140	2	231110582	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	32906	231110582	12088791	806	17262										
SP140L	93349	hgsc.bcm.edu	37	chr2	231226371	231226371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagaaagtgatcgaaaagAaagggaagagaggcctgaca	13	6	0	5	rs190007801	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:231226371A>G	ENST00000415673.2	+	5	568	c.482A>G	c.(481-483)gAa>gGa	p.E161G	SP140L_ENST00000444636.1_Missense_Mutation_p.E161G|SP140L_ENST00000243810.6_Missense_Mutation_p.E161G|SP140L_ENST00000458341.1_Missense_Mutation_p.E74G|SP140L_ENST00000396563.4_Missense_Mutation_p.E161G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	161						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GATCGAAAAGAAAGGGAAGAG	0.403													A|||	2	0.000399361	0.0015	0.0	5008	,	,		23304	0.0		0.0	False		,,,				2504	0.0				p.E161G		Atlas-SNP	.											.	SP140L	68	.	0			c.A482G						PASS	.	A	GLY/GLU	3,4039		0,3,2018	62	59	60		482	0.9	0	2		60	0,8456		0,0,4228	yes	missense	SP140L	NM_138402.4	98	0,3,6246	GG,GA,AA		0.0,0.0742,0.024	probably-damaging	161/581	231226371	3,12495	2021	4228	6249	SO:0001583	missense	93349	exon5			GAAAAGAAAGGGA	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.482A>G	2.37:g.231226371A>G	ENSP00000397911:p.Glu161Gly	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	89	4	0.0449438	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	9.805	1.181709	0.21787	7.42E-4	0.0	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.85171	-1.82;-1.45;-1.82;-1.95;0.58	2.13	0.943	0.19531	.	.	.	.	.	D	0.84284	0.5438	L	0.44542	1.39	0.09310	N	1	D;B	0.67145	0.996;0.028	P;B	0.61722	0.893;0.007	T	0.71220	-0.4657	9	0.31617	T	0.26	.	3.9572	0.09395	0.811:0.0:0.189:0.0	.	74;161	Q9H930-3;Q9H930-4	.;.	G	161;161;161;161;74	ENSP00000395195:E161G;ENSP00000397911:E161G;ENSP00000243810:E161G;ENSP00000379811:E161G;ENSP00000395223:E74G	ENSP00000243810:E161G	E	+	2	0	SP140L	230934615	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.491000	0.22419	0.268000	0.21939	0.254000	0.18369	GAA	A|0.999;G|0.001	0.001	strong		0.403	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		G	231226371	A	G	231226371	3	3	23	1	0	0	0	0	1	0	0	0	14963	246	9	2	500	2	SP140L	2	231226371	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	115789	231226371	11973002	807	17263										
DIS3L2	129563	hgsc.bcm.edu	37	chr2	232879671	232879671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actacagaatgaacctccggCccctggggacccccagaggt	11	15	0	3	rs723044	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:232879671C>T	ENST00000409307.1	+	1	34	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	DIS3L2_ENST00000325385.7_Missense_Mutation_p.P12S|AC105461.1_ENST00000413841.1_RNA|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P12S|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P12S|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P12S					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAACCTCCGGCCCCTGGGGAC	0.502													C|||	448	0.0894569	0.2413	0.0605	5008	,	,		17682	0.003		0.0219	False		,,,				2504	0.0634				p.P12S		Atlas-SNP	.											.	DIS3L2	77	.	0			c.C34T						PASS	.	C	SER/PRO	726,2952		61,604,1174	57	58	58		34	0.3	0.6	2	dbSNP_86	58	237,7947		5,227,3860	yes	missense	DIS3L2	NM_152383.4	74	66,831,5034	TT,TC,CC		2.8959,19.739,8.1184	benign	12/886	232879671	963,10899	1839	4092	5931	SO:0001583	missense	129563	exon2			CTCCGGCCCCTGG	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.34C>T	2.37:g.232879671C>T	ENSP00000386799:p.Pro12Ser	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	73	35	0.479452	NM_001257282		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	141	0.06456043956043957	100	0.2032520325203252	22	0.06077348066298342	1	0.0017482517482517483	18	0.023746701846965697	C	0.009	-1.821606	0.00589	0.19739	0.028959	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.51	0.349	0.16032	.	0.406243	0.21185	N	0.078742	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32534	-0.9903	9	0.16896	T	0.51	-6.9606	5.592	0.17307	0.0:0.513:0.264:0.223	rs723044;rs723044	12;12	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	S	12	ENSP00000273009:P12S;ENSP00000315569:P12S;ENSP00000353584:P12S;ENSP00000386594:P12S;ENSP00000390467:P12S;ENSP00000386799:P12S	ENSP00000273009:P12S	P	+	1	0	DIS3L2	232587915	0.785000	0.28726	0.610000	0.28997	0.012000	0.07955	-0.288000	0.08377	-0.239000	0.09710	-0.244000	0.11960	CCC	C|0.930;T|0.070	0.070	strong		0.502	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		T	232879671	C	T	232879671	3	4	23	1	0	0	0	0	1	0	0	0	4537	739	26	2	36	2	DIS3L2	2	232879671	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1653300	232879671	10319702	808	17264										
DIS3L2	129563	hgsc.bcm.edu	37	chr2	233201328	233201328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacggtgagcccgaggactcAagcaccagctgagctccacc	12	15	1	2	rs3811578	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:233201328A>G	ENST00000409307.1	+	20	2646	c.2646A>G	c.(2644-2646)tcA>tcG	p.S882S	DIS3L2_ENST00000325385.7_Silent_p.S882S|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCGAGGACTCAAGCACCAGCT	0.662													A|||	1012	0.202077	0.1732	0.2579	5008	,	,		9237	0.4484		0.0865	False		,,,				2504	0.0665				p.S882S		Atlas-SNP	.											.	DIS3L2	77	.	0			c.A2646G						PASS	.	A		549,3537		37,475,1531	15	21	19		2646	2.9	0.7	2	dbSNP_107	19	690,7680		28,634,3523	no	coding-synonymous	DIS3L2	NM_152383.4		65,1109,5054	GG,GA,AA		8.2437,13.4361,9.947		882/886	233201328	1239,11217	2043	4185	6228	SO:0001819	synonymous_variant	129563	exon21			GGACTCAAGCACC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2646A>G	2.37:g.233201328A>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	68	26	0.382353	NM_152383		Silent	SNP	ENST00000409307.1	37	CCDS42834.1	473	0.21657509157509158	65	0.13211382113821138	69	0.19060773480662985	279	0.48776223776223776	60	0.079155672823219	A	8.285	0.816528	0.16607	0.134361	0.082437	ENSG00000144535	ENST00000418143	.	.	.	4.06	2.89	0.33648	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22656	P	0.99888447	.	.	.	.	.	.	T	0.50013	-0.8877	3	.	.	.	.	5.6377	0.17546	0.875:0.0:0.125:0.0	rs3811578;rs3811578	.	.	.	E	163	.	.	K	+	1	0	DIS3L2	232909572	0.000000	0.05858	0.693000	0.30195	0.069000	0.16628	-0.295000	0.08298	1.622000	0.50330	0.529000	0.55759	AAG	A|0.797;G|0.203	0.203	strong		0.662	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		G	233201328	A	G	233201328	2	3	23	1	0	0	0	0	0	0	0	1	4537	117	5	2		2	DIS3L2	2	233201328	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	321657	233201328	9998045	809	17265										
USP40	55230	hgsc.bcm.edu	37	chr2	234429744	234429744	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catactagtgacccatttctCttccttggtcaacaagctgt	6	12	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:234429744C>T	ENST00000427112.2	-	16	2250	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	USP40_ENST00000251722.6_Missense_Mutation_p.E739K|USP40_ENST00000450966.1_Missense_Mutation_p.E751K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	739					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)		ACCCATTTCTCTTCCTTGGTC	0.368																																					p.E751K		Atlas-SNP	.											USP40_ENST00000450966,caecum,carcinoma,+2,2	USP40	174	2	0			c.G2251A						scavenged	.						84	77	79					2																	234429744		1842	4083	5925	SO:0001583	missense	55230	exon16			ATTTCTCTTCCTT	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.2215G>A	2.37:g.234429744C>T	ENSP00000387898:p.Glu739Lys	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	67	6	0.0895522	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818600	0.16607	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.75	2.88	0.33553	.	2.303910	0.01545	N	0.019397	T	0.37376	0.1001	L	0.29908	0.895	0.09310	N	1	B;B	0.28055	0.126;0.199	B;B	0.26770	0.033;0.073	T	0.22836	-1.0205	10	0.12430	T	0.62	.	9.1947	0.37220	0.0:0.8191:0.0:0.1809	.	739;751	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	K	751;739;739;34	ENSP00000415434:E751K;ENSP00000251722:E739K;ENSP00000387898:E739K;ENSP00000408853:E34K	ENSP00000251722:E739K	E	-	1	0	USP40	234094483	0.026000	0.19158	0.801000	0.32222	0.504000	0.33889	1.443000	0.35057	1.208000	0.43306	0.585000	0.79938	GAG	.	.	none		0.368	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		T	234429744	C	T	234429744	3	4	23	1	0	0	0	0	1	0	0	0	17069	922	32	2	1556	2	USP40	2	234429744	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1228416	234429744	8769629	810	17266										
UGT1A8	54658	hgsc.bcm.edu	37	chr2	234526871	234526871	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcttcgccaggggaatagCttgccactatcttgaagaag	12	9	2	2	rs1042597	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:234526871C>G	ENST00000373450.4	+	1	581	c.518C>G	c.(517-519)gCt>gGt	p.A173G		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	176					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AGGGGAATAGCTTGCCACTAT	0.473													-|||	1282	0.25599	0.0325	0.2954	5008	,	,		17737	0.506		0.2495	False		,,,				2504	0.2791				p.A173G		Atlas-SNP	.											.	UGT1A8	69	.	0			c.C518G						PASS	.	C	GLY/ALA	345,4061	178.0+/-206.8	12,321,1870	182	183	183		518	-0.2	0	2	dbSNP_86	183	2127,6473	367.0+/-334.5	269,1589,2442	no	missense	UGT1A8	NM_019076.4	60	281,1910,4312	GG,GC,CC		24.7326,7.8302,19.0066		173/531	234526871	2472,10534	2203	4300	6503	SO:0001583	missense	54576	exon1			GAATAGCTTGCCA	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.518C>G	2.37:g.234526871C>G	ENSP00000362549:p.Ala173Gly	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	185	97	0.524324	NM_019076	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	625	0.28617216117216115	23	0.046747967479674794	110	0.30386740331491713	292	0.5104895104895105	200	0.2638522427440633	C	2.320	-0.355915	0.05138	0.078302	0.247326	ENSG00000242366	ENST00000373450	T	0.66460	-0.21	3.96	-0.18	0.13295	.	.	.	.	.	T	0.00012	0.0000	N	0.04373	-0.215	0.80722	P	0.0	B;B	0.20368	0.044;0.044	B;B	0.30495	0.116;0.116	T	0.45234	-0.9275	8	0.51188	T	0.08	.	6.5183	0.22260	0.0:0.4965:0.1616:0.3419	rs1042597;rs2071043;rs13387262;rs17862843;rs56696602	173;173	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	G	173	ENSP00000362549:A173G	ENSP00000362549:A173G	A	+	2	0	UGT1A8	234191610	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.056000	0.14256	-0.052000	0.13311	-1.422000	0.01108	GCT	C|0.755;G|0.245	0.245	strong		0.473	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			G	234526871	C	G	234526871	3	3	23	1	0	0	0	0	1	0	0	0	16948	797	28	4	520	4	UGT1A8	2	234526871	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	97127	234526871	8672502	811	17267										
DNAJB3	54578	hgsc.bcm.edu	37	chr2	234652347	234652347	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgtgcagccgccctccgcCcccgcctcgccatagcggtc	10	22	0	0	rs13009407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:234652347C>G	ENST00000305139.6	+	2	1000				UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CGCCCTCCGCCCCCGCCTCGC	0.642													C|||	731	0.145966	0.0121	0.1628	5008	,	,		15622	0.0407		0.2356	False		,,,				2504	0.3313				p.G72G		Atlas-SNP	.											.	.	.	.	0			c.G216C						PASS	.	C	,,,,,,,,,	223,3791		17,189,1801	92	104	100		216,,,,,,,,,	-7.1	0	2	dbSNP_121	100	2166,6190		285,1596,2297	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3,DNAJB3	NM_001001394.3,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	302,1785,4098	GG,GC,CC		25.9215,5.5556,19.3129	,,,,,,,,,	72/146,,,,,,,,,	234652347	2389,9981	2007	4178	6185	SO:0001627	intron_variant	414061	exon1			CTCCGCCCCCGCC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23333C>G	2.37:g.234652347C>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	99	50	0.50505	NM_001001394	A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																			C|0.867;G|0.133	0.133	strong		0.642	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		G	234652347	C	G	234652347	1	3	23	0	1	0	0	0	0	0	0	0	4621	610	22	4		4	DNAJB3	2	234652347	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	125476	234652347	8547026	812	17268										
TRPM8	79054	hgsc.bcm.edu	37	chr2	234905078	234905078	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatatccccttccccttcatCgtcttcgcttacttctacat	2	16	3	0	rs11563208	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:234905078C>T	ENST00000324695.4	+	22	3088	c.3048C>T	c.(3046-3048)atC>atT	p.I1016I	TRPM8_ENST00000433712.2_Silent_p.I594I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1016					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCCCTTCATCGTCTTCGCTT	0.507													C|||	795	0.158746	0.0802	0.3184	5008	,	,		21633	0.0823		0.2525	False		,,,				2504	0.1339				p.I1016I		Atlas-SNP	.											.	TRPM8	146	.	0			c.C3048T						PASS	.	C		480,3926	227.2+/-242.5	31,418,1754	159	149	153		3048	-11.2	0.1	2	dbSNP_120	153	2394,6206	398.8+/-346.2	337,1720,2243	no	coding-synonymous	TRPM8	NM_024080.4		368,2138,3997	TT,TC,CC		27.8372,10.8942,22.0975		1016/1105	234905078	2874,10132	2203	4300	6503	SO:0001819	synonymous_variant	79054	exon22			CTTCATCGTCTTC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3048C>T	2.37:g.234905078C>T		Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	250	140	0.56	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																			C|0.795;N|0.000	.	strong		0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		T	234905078	C	T	234905078	2	4	23	1	0	0	0	0	0	0	0	1	16589	874	31	1		1	TRPM8	2	234905078	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	252731	234905078	8294295	813	17269										
IQCA1	79781	hgsc.bcm.edu	37	chr2	237300677	237300677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctctgtccacagctagcTttaagtttttaagttcctgt	6	9	1	0	rs10204742	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:237300677T>C	ENST00000409907.3	-	11	1629	c.1355A>G	c.(1354-1356)aAg>aGg	p.K452R	IQCA1_ENST00000465621.1_5'Flank|IQCA1_ENST00000309507.5_Missense_Mutation_p.K448R|IQCA1_ENST00000431676.2_Missense_Mutation_p.K411R|AC019068.2_ENST00000413353.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	452	Lys-rich.		K -> R (in dbSNP:rs10204742).				ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CACAGCTAGCTTTAAGTTTTT	0.453													T|||	330	0.0658946	0.177	0.0476	5008	,	,		18908	0.0		0.0567	False		,,,				2504	0.0061				p.K459R		Atlas-SNP	.											.	IQCA1	170	.	0			c.A1376G						PASS	.	T	ARG/LYS	590,3144		41,508,1318	175	177	176		1355	5.4	0.6	2	dbSNP_119	176	367,7843		5,357,3743	yes	missense	IQCA1	NM_024726.3	26	46,865,5061	CC,CT,TT		4.4702,15.8007,8.0124	benign	452/823	237300677	957,10987	1867	4105	5972	SO:0001583	missense	79781	exon11			GCTAGCTTTAAGT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1355A>G	2.37:g.237300677T>C	ENSP00000387347:p.Lys452Arg	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	167	86	0.51497	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	137	0.06272893772893773	79	0.16056910569105692	23	0.06353591160220995	0	0.0	35	0.04617414248021108	T	12.04	1.817829	0.32145	0.158007	0.044702	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.95554	-3.62;-3.58;-3.74	5.45	5.45	0.79879	.	0.104177	0.41823	D	0.000819	T	0.05090	0.0136	L	0.52905	1.665	0.26243	P	0.9788443	B;B;B	0.27656	0.132;0.184;0.132	B;B;B	0.27262	0.034;0.078;0.05	T	0.65327	-0.6195	9	0.15066	T	0.55	.	13.7718	0.63029	0.0:0.0:0.0:1.0	rs10204742;rs52829459;rs10204742	411;459;452	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	R	452;459;448;411;448	ENSP00000387347:K452R;ENSP00000311951:K448R;ENSP00000407213:K411R	ENSP00000254653:K452R	K	-	2	0	IQCA1	236965416	0.997000	0.39634	0.598000	0.28837	0.677000	0.39632	2.585000	0.46111	2.064000	0.61679	0.533000	0.62120	AAG	T|0.926;C|0.074	0.074	strong		0.453	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		C	237300677	T	C	237300677	3	2	23	1	0	0	0	0	1	0	0	0	7802	1609	56	3	1149	3	IQCA1	2	237300677	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2395599	237300677	5898696	814	17270										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238244781	238244781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaagggctttcttacccaTgggcttagtggtggctggct	14	9	1	0	rs11690358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238244781T>C	ENST00000295550.4	-	40	9414	c.8962A>G	c.(8962-8964)Atg>Gtg	p.M2988V	COL6A3_ENST00000472056.1_Missense_Mutation_p.M2381V|COL6A3_ENST00000353578.4_Missense_Mutation_p.M2782V|COL6A3_ENST00000347401.3_Missense_Mutation_p.M2787V|COL6A3_ENST00000346358.4_Missense_Mutation_p.M2788V|COL6A3_ENST00000409809.1_Missense_Mutation_p.M2782V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2988	Nonhelical region.		M -> V (in dbSNP:rs11690358). {ECO:0000269|PubMed:1689238, ECO:0000269|PubMed:17886299}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCTTACCCATGGGCTTAGTG	0.572													C|||	237	0.0473243	0.0151	0.0461	5008	,	,		21536	0.0109		0.1123	False		,,,				2504	0.0624				p.M2988V		Atlas-SNP	.											.	COL6A3	608	.	0			c.A8962G						PASS	.	C	VAL/MET,VAL/MET,VAL/MET	100,3998		1,98,1950	49	42	44		8344,7141,8962	-4.8	0	2	dbSNP_120	44	749,7497		30,689,3404	yes	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	21,21,21	31,787,5354	CC,CT,TT		9.0832,2.4402,6.8778	benign,benign,benign	2782/2972,2381/2571,2988/3178	238244781	849,11495	2049	4123	6172	SO:0001583	missense	1293	exon40			TACCCATGGGCTT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8962A>G	2.37:g.238244781T>C	ENSP00000295550:p.Met2988Val	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	88	44	0.5	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	110	0.05036630036630037	7	0.014227642276422764	16	0.04419889502762431	6	0.01048951048951049	81	0.10686015831134564	C	7.541	0.660628	0.14645	0.024402	0.090832	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87491	-2.26;-2.24;-2.22;-2.22;-2.22;-2.21	5.56	-4.78	0.03209	Fibronectin, type III (1);	1.728000	0.03320	N	0.191771	T	0.01905	0.0060	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.51803	-0.8659	10	0.02654	T	1	.	2.5857	0.04829	0.1063:0.2207:0.2092:0.4637	rs11690358;rs61396974;rs11690358	2381;2782;2988	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2988;2787;2782;2381;2782;2788	ENSP00000295550:M2988V;ENSP00000315609:M2787V;ENSP00000315873:M2782V;ENSP00000418285:M2381V;ENSP00000386844:M2782V;ENSP00000295546:M2788V	ENSP00000295550:M2988V	M	-	1	0	COL6A3	237909520	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-1.242000	0.02908	-1.635000	0.01535	-0.213000	0.12676	ATG	T|0.934;C|0.066	0.066	strong		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238244781	T	C	238244781	3	2	23	1	0	0	0	0	1	0	0	0	3701	1464	51	2	591	2	COL6A3	2	238244781	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	944104	238244781	4954592	815	17271										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238244864	238244866	+	In_Frame_Del	DEL	GCA	GCA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttggtcgccactggttttGcagcagcagcagcggggggt					rs35879189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238244864_238244866delGCA	ENST00000295550.4	-	40	9329_9331	c.8877_8879delTGC	c.(8875-8880)gctgca>gca	p.2959_2960AA>A	COL6A3_ENST00000472056.1_In_Frame_Del_p.2352_2353AA>A|COL6A3_ENST00000353578.4_In_Frame_Del_p.2753_2754AA>A|COL6A3_ENST00000347401.3_In_Frame_Del_p.2758_2759AA>A|COL6A3_ENST00000346358.4_In_Frame_Del_p.2759_2760AA>A|COL6A3_ENST00000409809.1_In_Frame_Del_p.2753_2754AA>A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2959	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACTGGTTTTGCAGCAGCAGCAG	0.611														256	0.0511182	0.003	0.0591	5008	,	,		19560	0.0089		0.1302	False		,,,				2504	0.0726				p.2960_2960del		Pindel,Atlas-Indel	.											.	COL6A3	608	.	0			c.8878_8880del						PASS	.		,,	96,4160		2,92,2034					,,	2.1	0		dbSNP_126	40	977,7259		76,825,3217	no	coding,coding,coding	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	,,	78,917,5251	A1A1,A1R,RR		11.8626,2.2556,8.5895	,,	,,		1073,11419				SO:0001651	inframe_deletion	1293	exon40			.	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8877_8879delTGC	2.37:g.238244873_238244875delGCA	ENSP00000295550:p.Ala2960del	Somatic	53	.	.		WXS	Illumina HiSeq	Phase_I	52	16	0.308	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	In_Frame_Del	DEL	ENST00000295550.4	37	CCDS33412.1																																																																																			GCA|0.935;-|0.065	0.065	strong		0.611	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		-	238244866	GCA	-	238244864	7	5	23	1	0	1	0	1	0	0	0	0	3701	1319	46	0	674	0	COL6A3	2	238244864	In_Frame_Del	DEL	GCA	TCGA-GR-7353-01A-11D-2210-10	83	238244864	4954509	816	17272										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238244923	238244923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgctacaggcttcgctgcCgttgctggcttcaccgccac	11	16	1	0	rs11683438	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238244923C>T	ENST00000295550.4	-	40	9272	c.8820G>A	c.(8818-8820)acG>acA	p.T2940T	COL6A3_ENST00000472056.1_Silent_p.T2333T|COL6A3_ENST00000353578.4_Silent_p.T2734T|COL6A3_ENST00000347401.3_Silent_p.T2739T|COL6A3_ENST00000346358.4_Silent_p.T2740T|COL6A3_ENST00000409809.1_Silent_p.T2734T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2940	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTTCGCTGCCGTTGCTGGCT	0.637													C|||	216	0.043131	0.003	0.0432	5008	,	,		17309	0.0089		0.1113	False		,,,				2504	0.0624				p.T2940T		Atlas-SNP	.											.	COL6A3	608	.	0			c.G8820A						PASS	.	C	,,	80,4320		1,78,2121	42	51	48		8820,6999,8202	-4.5	0	2	dbSNP_120	48	843,7757		43,757,3500	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	44,835,5621	TT,TC,CC		9.8023,1.8182,7.1	,,	2940/3178,2333/2571,2734/2972	238244923	923,12077	2200	4300	6500	SO:0001819	synonymous_variant	1293	exon40			CGCTGCCGTTGCT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8820G>A	2.37:g.238244923C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			C|0.933;G|0.000;T|0.067	0.067	strong		0.637	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238244923	C	T	238244923	2	4	23	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL6A3	2	238244923	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	59	238244923	4954450	817	17273										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238247734	238247734	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcacactgtttcctgatatCtggggacaagtaaaaagcat	8	8	2	1	rs36104025	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238247734C>G	ENST00000295550.4	-	39	8943	c.8491G>C	c.(8491-8493)Gat>Cat	p.D2831H	COL6A3_ENST00000472056.1_Missense_Mutation_p.D2224H|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2625H|COL6A3_ENST00000347401.3_Missense_Mutation_p.D2630H|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2631H|COL6A3_ENST00000409809.1_Missense_Mutation_p.D2625H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2831	Nonhelical region.		D -> H (in dbSNP:rs36104025). {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:17886299, ECO:0000269|PubMed:9536084}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCTGATATCTGGGGACAAG	0.333													C|||	163	0.0325479	0.0083	0.0447	5008	,	,		19123	0.0		0.0716	False		,,,				2504	0.0501				p.D2831H		Atlas-SNP	.											.	COL6A3	608	.	0			c.G8491C						PASS	.	C	HIS/ASP,HIS/ASP,HIS/ASP	83,4323	69.8+/-107.6	4,75,2124	71	70	70		8491,6670,7873	5.1	1	2	dbSNP_126	70	853,7747	194.7+/-240.0	48,757,3495	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	81,81,81	52,832,5619	GG,GC,CC		9.9186,1.8838,7.1967	probably-damaging,probably-damaging,probably-damaging	2831/3178,2224/2571,2625/2972	238247734	936,12070	2203	4300	6503	SO:0001583	missense	1293	exon39			TGATATCTGGGGA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8491G>C	2.37:g.238247734C>G	ENSP00000295550:p.Asp2831His	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	22	0.415094	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	90	0.04120879120879121	6	0.012195121951219513	16	0.04419889502762431	0	0.0	68	0.08970976253298153	C	14.74	2.624546	0.46840	0.018838	0.099186	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.89939	-2.59;-2.57;-2.55;-2.56;-2.55;-2.55	5.09	5.09	0.68999	.	0.118877	0.36893	N	0.002355	T	0.40839	0.1133	M	0.64997	1.995	0.53688	D	0.999971	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.921;0.964;0.997	T	0.72906	-0.4150	10	0.72032	D	0.01	.	18.52	0.90948	0.0:1.0:0.0:0.0	rs36104025	2224;2625;2831	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	2831;2630;2625;2224;2625;2631	ENSP00000295550:D2831H;ENSP00000315609:D2630H;ENSP00000315873:D2625H;ENSP00000418285:D2224H;ENSP00000386844:D2625H;ENSP00000295546:D2631H	ENSP00000295550:D2831H	D	-	1	0	COL6A3	237912473	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.416000	0.66417	2.378000	0.81104	0.655000	0.94253	GAT	C|0.942;G|0.058	0.058	strong		0.333	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238247734	C	G	238247734	3	3	23	1	0	0	0	0	1	0	0	0	3701	913	32	4	1066	4	COL6A3	2	238247734	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2811	238247734	4951639	818	17274										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238249108	238249108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttactgctgacgaaggaTggcaacagcctcccgaagcg	12	12	0	1	rs61729844	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238249108T>C	ENST00000295550.4	-	38	8903	c.8451A>G	c.(8449-8451)ccA>ccG	p.P2817P	COL6A3_ENST00000472056.1_Silent_p.P2210P|COL6A3_ENST00000353578.4_Silent_p.P2611P|COL6A3_ENST00000347401.3_Silent_p.P2616P|COL6A3_ENST00000346358.4_Silent_p.P2617P|COL6A3_ENST00000409809.1_Silent_p.P2611P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2817	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGACGAAGGATGGCAACAGCC	0.547													t|||	218	0.0435304	0.003	0.0432	5008	,	,		21534	0.0089		0.1133	False		,,,				2504	0.0624				p.P2817P		Atlas-SNP	.											.	COL6A3	608	.	0			c.A8451G						PASS	.	C	,,	79,4327	70.3+/-108.2	1,77,2125	68	62	64		8451,6630,7833	-11.3	0	2	dbSNP_129	64	855,7745	194.9+/-240.2	43,769,3488	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	44,846,5613	CC,CT,TT		9.9419,1.793,7.1813	,,	2817/3178,2210/2571,2611/2972	238249108	934,12072	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon38			GAAGGATGGCAAC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8451A>G	2.37:g.238249108T>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	55	26	0.472727	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			A|0.000;C|0.070;T|0.930	0.070	strong		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238249108	T	C	238249108	2	2	23	1	0	0	0	0	0	0	0	1	3701	1451	51	2		2	COL6A3	2	238249108	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1374	238249108	4950265	819	17275										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238277573	238277573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccagtgttcagtggggaCccccctctgagcctcaggcg	13	14	3	1	rs2645774	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238277573C>A	ENST00000295550.4	-	10	4985	c.4533G>T	c.(4531-4533)ggG>ggT	p.G1511G	COL6A3_ENST00000472056.1_Silent_p.G904G|COL6A3_ENST00000353578.4_Silent_p.G1305G|COL6A3_ENST00000347401.3_Silent_p.G1310G|COL6A3_ENST00000346358.4_Silent_p.G1311G|COL6A3_ENST00000409809.1_Silent_p.G1305G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1511	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAGTGGGGACCCCCCTCTGA	0.562													C|||	1330	0.265575	0.295	0.3084	5008	,	,		18618	0.256		0.2177	False		,,,				2504	0.2546				p.G1511G		Atlas-SNP	.											.	COL6A3	608	.	0			c.G4533T						PASS	.	C	,,	1224,3182	421.5+/-339.4	163,898,1142	47	48	48		4533,2712,3915	-5.6	0	2	dbSNP_100	48	1824,6776	321.3+/-315.0	208,1408,2684	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	371,2306,3826	AA,AC,CC		21.2093,27.7803,23.4353	,,	1511/3178,904/2571,1305/2972	238277573	3048,9958	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon10			TGGGGACCCCCCT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4533G>T	2.37:g.238277573C>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			C|0.757;A|0.243	0.243	strong		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238277573	C	A	238277573	2	1	23	1	0	0	0	0	0	0	0	1	3701	494	18	4		4	COL6A3	2	238277573	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28465	238277573	4921800	820	17276										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238280553	238280553	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctggtctgcgttcctggcGatcgtgaaaggggccacgcc	14	13	1	1	rs35114079	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238280553G>A	ENST00000295550.4	-	9	4559	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I	COL6A3_ENST00000392004.3_Silent_p.I1163I|COL6A3_ENST00000392003.2_Silent_p.I962I|COL6A3_ENST00000472056.1_Silent_p.I762I|COL6A3_ENST00000353578.4_Silent_p.I1163I|COL6A3_ENST00000347401.3_Silent_p.I1168I|COL6A3_ENST00000346358.4_Silent_p.I1169I|COL6A3_ENST00000409809.1_Silent_p.I1163I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1369	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTTCCTGGCGATCGTGAAAG	0.612													G|||	14	0.00279553	0.0015	0.0014	5008	,	,		16527	0.0		0.006	False		,,,				2504	0.0051				p.I1369I		Atlas-SNP	.											.	COL6A3	608	.	0			c.C4107T						PASS	.	G	,,,,	7,4399	12.9+/-30.5	0,7,2196	60	56	57		4107,2886,3489,2286,3489	-9.3	0	2	dbSNP_126	57	71,8529	42.2+/-99.7	0,71,4229	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	0,78,6425	AA,AG,GG		0.8256,0.1589,0.5997	,,,,	1369/3178,962/1037,1163/1238,762/2571,1163/2972	238280553	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon9			CCTGGCGATCGTG	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4107C>T	2.37:g.238280553G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	77	28	0.363636	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|0.994;A|0.006	0.006	strong		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238280553	G	A	238280553	2	1	23	1	0	0	0	0	0	0	0	1	3701	1048	37	1		1	COL6A3	2	238280553	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2980	238280553	4918820	821	17277										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238283605	238283605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aactctttcaacagagggaaGccgctcctgacgccctcaga	9	14	3	3	rs12622093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238283605G>A	ENST00000295550.4	-	8	3581	c.3129C>T	c.(3127-3129)ggC>ggT	p.G1043G	COL6A3_ENST00000392004.3_Silent_p.G837G|COL6A3_ENST00000392003.2_Silent_p.G636G|COL6A3_ENST00000472056.1_Silent_p.G436G|COL6A3_ENST00000353578.4_Silent_p.G837G|COL6A3_ENST00000347401.3_Silent_p.G842G|COL6A3_ENST00000346358.4_Silent_p.G843G|COL6A3_ENST00000409809.1_Silent_p.G837G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1043	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGAGGGAAGCCGCTCCTGA	0.587													G|||	1081	0.215855	0.1082	0.2536	5008	,	,		19171	0.2698		0.2465	False		,,,				2504	0.2474				p.G1043G		Atlas-SNP	.											COL6A3_ENST00000392004,NS,carcinoma,0,2	COL6A3	608	2	0			c.C3129T						PASS	.	G	,,,,	568,3838	248.7+/-256.4	42,484,1677	46	49	48		3129,1908,2511,1308,2511	1.2	0.9	2	dbSNP_120	48	2008,6592	348.4+/-327.0	244,1520,2536	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	286,2004,4213	AA,AG,GG		23.3488,12.8915,19.8062	,,,,	1043/3178,636/1037,837/1238,436/2571,837/2972	238283605	2576,10430	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon8			AGGGAAGCCGCTC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3129C>T	2.37:g.238283605G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|0.795;A|0.205	0.205	strong		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238283605	G	A	238283605	2	1	23	1	0	0	0	0	0	0	0	1	3701	958	34	2		2	COL6A3	2	238283605	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3052	238283605	4915768	822	17278										
MLPH	79083	hgsc.bcm.edu	37	chr2	238434249	238434249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccatgtgcttagtccctCacagatgagtcctgctcaga	9	14	2	3	rs2292881	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238434249C>T	ENST00000264605.3	+	7	975	c.681C>T	c.(679-681)ctC>ctT	p.L227L	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.L227L|MLPH_ENST00000338530.4_Silent_p.L227L|MLPH_ENST00000409373.1_Silent_p.L187L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	227					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTAGTCCCTCACAGATGAGT	0.607													C|||	737	0.147165	0.0741	0.1988	5008	,	,		17998	0.1935		0.0676	False		,,,				2504	0.2434				p.L227L		Atlas-SNP	.											.	MLPH	41	.	0			c.C681T						PASS	.	C	,	410,3996	200.1+/-223.5	12,386,1805	43	46	45		681,681	2.4	0.7	2	dbSNP_100	45	734,7866	177.3+/-227.0	22,690,3588	no	coding-synonymous,coding-synonymous	MLPH	NM_001042467.1,NM_024101.5	,	34,1076,5393	TT,TC,CC		8.5349,9.3055,8.7959	,	227/573,227/601	238434249	1144,11862	2203	4300	6503	SO:0001819	synonymous_variant	79083	exon7			GTCCCTCACAGAT	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.681C>T	2.37:g.238434249C>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	119	64	0.537815	NM_001042467	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	CCDS2518.1	260	0.11904761904761904	43	0.08739837398373984	55	0.15193370165745856	111	0.19405594405594406	51	0.06728232189973615	C	8.698	0.909104	0.17833	0.093055	0.085349	ENSG00000115648	ENST00000437893	T	0.28454	1.61	3.35	2.43	0.29744	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	0.99999854391	.	.	.	.	.	.	T	0.17349	-1.0372	4	.	.	.	-15.6364	8.4894	0.33091	0.0:0.7609:0.2391:0.0	rs2292881;rs2292881	.	.	.	L	34	ENSP00000412438:S34L	.	S	+	2	0	MLPH	238098988	0.637000	0.27216	0.748000	0.31131	0.727000	0.41649	1.310000	0.33551	0.955000	0.37878	0.563000	0.77884	TCA	C|0.895;T|0.105	0.105	strong		0.607	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		T	238434249	C	T	238434249	2	4	23	1	0	0	0	0	0	0	0	1	9633	813	29	2		2	MLPH	2	238434249	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	150644	238434249	4765124	823	17279										
MLPH	79083	hgsc.bcm.edu	37	chr2	238449023	238449023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagtgcgcacggaggccgaTgtagaggaggaggccctgag	20	8	0	2	rs3817363	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238449023T>C	ENST00000264605.3	+	10	1431	c.1137T>C	c.(1135-1137)gaT>gaC	p.D379D	MLPH_ENST00000410032.1_Silent_p.D236D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.D379D|MLPH_ENST00000338530.4_Silent_p.D351D|MLPH_ENST00000409373.1_Silent_p.D311D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	379					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.D379D(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGGAGGCCGATGTAGAGGAGG	0.612													T|||	955	0.190695	0.1309	0.2161	5008	,	,		19640	0.3165		0.0805	False		,,,				2504	0.2372				p.D379D		Atlas-SNP	.											MLPH,NS,carcinoma,0,2	MLPH	41	2	1	Substitution - coding silent(1)	stomach(1)	c.T1137C						PASS	.	T	,	663,3741	277.8+/-273.9	35,593,1574	81	74	76		1053,1137	4.2	0	2	dbSNP_107	76	807,7791	187.9+/-235.0	27,753,3519	no	coding-synonymous,coding-synonymous	MLPH	NM_001042467.1,NM_024101.5	,	62,1346,5093	CC,CT,TT		9.3859,15.0545,11.306	,	351/573,379/601	238449023	1470,11532	2202	4299	6501	SO:0001819	synonymous_variant	79083	exon10			GGCCGATGTAGAG	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1137T>C	2.37:g.238449023T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	149	46	0.308725	NM_024101	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	CCDS2518.1	366|366	0.16758241758241757|0.16758241758241757	68|68	0.13821138211382114|0.13821138211382114	64|64	0.17679558011049723|0.17679558011049723	174|174	0.3041958041958042|0.3041958041958042	60|60	0.079155672823219|0.079155672823219	T|T	5.179|5.179	0.218543|0.218543	0.09810|0.09810	0.150545|0.150545	0.093859|0.093859	ENSG00000115648|ENSG00000115648	ENST00000415753|ENST00000436965	.|.	.|.	.|.	5.1|5.1	4.22|4.22	0.49857|0.49857	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.32244|0.32244	P|P	0.572326|0.572326	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19289|0.19289	-1.0310|-1.0310	3|3	.|.	.|.	.|.	-21.6645|-21.6645	10.659|10.659	0.45692|0.45692	0.0:0.9038:0.0:0.0962|0.0:0.9038:0.0:0.0962	rs3817363|rs3817363	.|.	.|.	.|.	R|T	67|100	.|.	.|.	C|M	+|+	1|2	0|0	MLPH|MLPH	238113762|238113762	0.210000|0.210000	0.23517|0.23517	0.008000|0.008000	0.14137|0.14137	0.000000|0.000000	0.00434|0.00434	0.402000|0.402000	0.20965|0.20965	1.121000|1.121000	0.41925|0.41925	-0.248000|-0.248000	0.11899|0.11899	TGT|ATG	T|0.874;C|0.126	0.126	strong		0.612	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		C	238449023	T	C	238449023	2	2	23	1	0	0	0	0	0	0	0	1	9633	1461	51	2		2	MLPH	2	238449023	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14774	238449023	4750350	824	17280										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238668802	238668802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaggtcctaccaagatgacAaaagaagagttaaatgccct	8	9	0	4	rs3213868	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238668802A>G	ENST00000392000.4	+	10	960	c.843A>G	c.(841-843)acA>acG	p.T281T	LRRFIP1_ENST00000308482.9_Silent_p.T471T|LRRFIP1_ENST00000289175.6_Silent_p.T225T|LRRFIP1_ENST00000244815.5_Silent_p.T257T	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	281					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CCAAGATGACAAAAGAAGAGT	0.448													G|||	1813	0.362021	0.3487	0.3012	5008	,	,		20595	0.505		0.2515	False		,,,				2504	0.3896				p.T471T		Atlas-SNP	.											LRRFIP1_ENST00000392000,colon,carcinoma,+1,3	LRRFIP1	171	3	0			c.A1413G						PASS	.	G	,,,,	1561,2845	669.1+/-402.1	299,963,941	105	100	102		1413,675,843,675,771	-10.8	0	2	dbSNP_106	102	2000,6600	722.2+/-406.4	218,1564,2518	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,,,	517,2527,3459	GG,GA,AA		23.2558,35.429,27.3797	,,,,	471/641,225/395,281/809,225/753,257/785	238668802	3561,9445	2203	4300	6503	SO:0001819	synonymous_variant	9208	exon19			GATGACAAAAGAA	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.843A>G	2.37:g.238668802A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_001137550	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																			A|0.676;G|0.324	0.324	strong		0.448	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238668802	A	G	238668802	2	3	23	1	0	0	0	0	0	0	0	1	9027	117	5	2		2	LRRFIP1	2	238668802	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	219779	238668802	4530571	825	17281										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238671328	238671328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcacaatactgagaaagaAcaacacacagaggacacagt	8	9	0	3	rs868119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238671328A>G	ENST00000392000.4	+	11	1089	c.972A>G	c.(970-972)gaA>gaG	p.E324E	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Silent_p.E268E|LRRFIP1_ENST00000244815.5_Silent_p.E300E	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	324					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGAGAAAGAACAACACACAG	0.458													A|||	1647	0.328874	0.3533	0.2723	5008	,	,		21928	0.4444		0.1998	False		,,,				2504	0.3497				p.E324E		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.A972G						PASS	.	A	,,,,	1576,2830	491.3+/-362.1	296,984,923	82	74	77		,,972,804,900	-9.9	0	2	dbSNP_86	77	1617,6983	300.5+/-305.0	144,1329,2827	no	intron,intron,coding-synonymous,coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,,,	440,2313,3750	GG,GA,AA		18.8023,35.7694,24.5502	,,,,	,,324/809,268/753,300/785	238671328	3193,9813	2203	4300	6503	SO:0001819	synonymous_variant	9208	exon11			GAAAGAACAACAC	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.972A>G	2.37:g.238671328A>G		Somatic	385	1	0.0025974		WXS	Illumina HiSeq	Phase_I	413	200	0.484262	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																			A|0.732;G|0.268	0.268	strong		0.458	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238671328	A	G	238671328	2	3	23	1	0	0	0	0	0	0	0	1	9027	40	2	2		2	LRRFIP1	2	238671328	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2526	238671328	4528045	826	17282										
LRRFIP1	9208	hgsc.bcm.edu	37	chr2	238672703	238672703	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccaggaagagagccagggCacttcaatccagaaagcaga	11	11	1	3	rs3739038	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238672703C>G	ENST00000392000.4	+	11	2464	c.2347C>G	c.(2347-2349)Cac>Gac	p.H783D	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.H727D|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.H759D	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	783			H -> D (in dbSNP:rs3739038).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAGCCAGGGCACTTCAATCC	0.512													G|||	1803	0.360024	0.3563	0.3026	5008	,	,		20722	0.505		0.2495	False		,,,				2504	0.3701				p.H783D		Atlas-SNP	.											.	LRRFIP1	171	.	0			c.C2347G						PASS	.	G	,,ASP/HIS,ASP/HIS,ASP/HIS	1635,2771	659.0+/-400.5	319,997,887	78	77	77		,,2347,2179,2275	1.5	0	2	dbSNP_107	77	2004,6596	721.6+/-406.4	219,1566,2515	yes	intron,intron,missense,missense,missense	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	,,81,81,81	538,2563,3402	GG,GC,CC		23.3023,37.1085,27.9794	,,benign,benign,benign	,,783/809,727/753,759/785	238672703	3639,9367	2203	4300	6503	SO:0001583	missense	9208	exon11			CCAGGGCACTTCA	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.2347C>G	2.37:g.238672703C>G	ENSP00000375857:p.His783Asp	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	130	69	0.530769	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	811	0.37133699633699635	198	0.4024390243902439	115	0.31767955801104975	318	0.5559440559440559	180	0.23746701846965698	G	0.088	-1.172355	0.01646	0.371085	0.233023	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.06768	3.27;3.27;3.26	5.34	1.5	0.22942	.	8.116580	0.00166	N	0.000000	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45629	-0.9248	9	0.02654	T	1	-13.1981	1.2179	0.01918	0.3763:0.1334:0.3364:0.1539	rs3739038;rs52824301;rs58509875;rs3739038	727;783;759	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	D	727;759;783	ENSP00000289175:H727D;ENSP00000244815:H759D;ENSP00000375857:H783D	ENSP00000244815:H759D	H	+	1	0	LRRFIP1	238337442	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.219000	0.17641	0.268000	0.21939	-0.120000	0.15030	CAC	C|0.687;G|0.312	0.312	strong		0.512	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		G	238672703	C	G	238672703	3	3	23	1	0	0	0	0	1	0	0	0	9027	710	25	4	3065	4	LRRFIP1	2	238672703	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1375	238672703	4526670	827	17283										
RBM44	375316	hgsc.bcm.edu	37	chr2	238742968	238742968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgagaataagacataaagGttttctgaatggcttatcta	9	4	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:238742968G>A	ENST00000409864.1	+	15	3337	c.3083G>A	c.(3082-3084)gGt>gAt	p.G1028D	RBM44_ENST00000316997.4_Missense_Mutation_p.G1028D			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	1027						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGACATAAAGGTTTTCTGAAT	0.318																																					p.G1028D		Atlas-SNP	.											.	RBM44	167	.	0			c.G3083A						PASS	.						38	37	37					2																	238742968		1804	4054	5858	SO:0001583	missense	375316	exon15			ATAAAGGTTTTCT	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.3083G>A	2.37:g.238742968G>A	ENSP00000386727:p.Gly1028Asp	Somatic	297	1	0.003367		WXS	Illumina HiSeq	Phase_I	262	128	0.48855	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962568	0.74016	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.69561	-0.41;-0.41	4.96	4.96	0.65561	.	.	.	.	.	T	0.81351	0.4804	M	0.74881	2.28	0.43275	D	0.995234	D	0.89917	1.0	D	0.91635	0.999	D	0.83952	0.0317	9	0.87932	D	0	-15.9804	15.6834	0.77391	0.0:0.0:1.0:0.0	.	1027	Q6ZP01	RBM44_HUMAN	D	1028	ENSP00000321179:G1028D;ENSP00000386727:G1028D	ENSP00000321179:G1028D	G	+	2	0	RBM44	238407707	1.000000	0.71417	0.812000	0.32479	0.977000	0.68977	6.062000	0.71155	2.297000	0.77311	0.484000	0.47621	GGT	.	.	none		0.318	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		A	238742968	G	A	238742968	3	1	23	1	0	0	0	0	1	0	0	0	13138	1261	44	2	3137	2	RBM44	2	238742968	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	70265	238742968	4456405	828	17284										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239025630	239025630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagacctggcggagtaccaTggacaccgggactgcgccca	14	14	0	1	rs11904159	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239025630T>C	ENST00000343063.3	+	5	1205	c.942T>C	c.(940-942)caT>caC	p.H314H	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	314										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGAGTACCATGGACACCGGG	0.687													C|||	983	0.196286	0.2867	0.1412	5008	,	,		17120	0.2302		0.1322	False		,,,				2504	0.1442				p.H314H		Atlas-SNP	.											.	ESPNL	63	.	0			c.T942C						PASS	.	C		1121,3279	705.9+/-407.3	174,773,1253	69	55	59		942	-2.8	0.9	2	dbSNP_120	59	1415,7177	748.6+/-407.3	129,1157,3010	no	coding-synonymous	ESPNL	NM_194312.2		303,1930,4263	CC,CT,TT		16.4688,25.4773,19.5197		314/1006	239025630	2536,10456	2200	4296	6496	SO:0001819	synonymous_variant	339768	exon5			GTACCATGGACAC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.942T>C	2.37:g.239025630T>C		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	159	80	0.503145	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			T|0.803;C|0.197	0.197	strong		0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		C	239025630	T	C	239025630	2	2	23	1	0	0	0	0	0	0	0	1	5255	1461	51	2		2	ESPNL	2	239025630	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	282662	239025630	4173743	829	17285										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239036270	239036270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttcttggcagccatgtcCctcagcccggcctggcctgg	11	16	3	0	rs13382446	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239036270C>T	ENST00000343063.3	+	7	1373	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	ESPNL_ENST00000409506.1_Silent_p.S2S|ESPNL_ENST00000409169.1_Silent_p.S326S	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	370	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGCCATGTCCCTCAGCCCGG	0.667													C|||	613	0.122404	0.1346	0.121	5008	,	,		14389	0.1042		0.1362	False		,,,				2504	0.1115				p.S370S		Atlas-SNP	.											.	ESPNL	63	.	0			c.C1110T						PASS	.	C		555,3849		43,469,1690	39	34	36		1110	-0.8	0.3	2	dbSNP_121	36	1380,7216		123,1134,3041	no	coding-synonymous	ESPNL	NM_194312.2		166,1603,4731	TT,TC,CC		16.054,12.6022,14.8846		370/1006	239036270	1935,11065	2202	4298	6500	SO:0001819	synonymous_variant	339768	exon7			CATGTCCCTCAGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1110C>T	2.37:g.239036270C>T		Somatic	381	1	0.00262467		WXS	Illumina HiSeq	Phase_I	374	200	0.534759	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			C|0.861;T|0.139	0.139	strong		0.667	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		T	239036270	C	T	239036270	2	4	23	1	0	0	0	0	0	0	0	1	5255	610	22	2		2	ESPNL	2	239036270	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10640	239036270	4163103	830	17286										
ESPNL	339768	hgsc.bcm.edu	37	chr2	239038912	239038912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagattgcagacctgcagctTcggcgccgctgtcaggagta	13	12	1	2	rs57813708	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239038912T>C	ENST00000343063.3	+	9	1820	c.1557T>C	c.(1555-1557)ctT>ctC	p.L519L	ESPNL_ENST00000409506.1_Silent_p.L151L|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.L475L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	519										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGCAGCTTCGGCGCCGCT	0.632													T|||	1243	0.248203	0.3215	0.2709	5008	,	,		17111	0.1835		0.2386	False		,,,				2504	0.2096				p.L519L		Atlas-SNP	.											.	ESPNL	63	.	0			c.T1557C						PASS	.	T		1358,3038		206,946,1046	24	24	24		1557	0.8	1	2	dbSNP_129	24	1944,6650		230,1484,2583	yes	coding-synonymous	ESPNL	NM_194312.2		436,2430,3629	CC,CT,TT		22.6204,30.8917,25.4196		519/1006	239038912	3302,9688	2198	4297	6495	SO:0001819	synonymous_variant	339768	exon9			GCAGCTTCGGCGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1557T>C	2.37:g.239038912T>C		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	198	86	0.434343	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			T|0.748;C|0.252	0.252	strong		0.632	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		C	239038912	T	C	239038912	2	2	23	1	0	0	0	0	0	0	0	1	5255	1770	62	2		2	ESPNL	2	239038912	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2642	239038912	4160461	831	17287										
KLHL30	377007	hgsc.bcm.edu	37	chr2	239059610	239059610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacacctggacccgccacggCgccctgccccggctctggct	12	20	1	0	rs61736173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239059610C>T	ENST00000409223.1	+	8	1748	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	KLHL30_ENST00000305959.4_Silent_p.G529G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	547										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCGCCACGGCGCCCTGCCCC	0.682													c|||	172	0.034345	0.0711	0.0317	5008	,	,		13240	0.0		0.0517	False		,,,				2504	0.0041				p.G547G		Atlas-SNP	.											.	KLHL30	79	.	0			c.C1641T						PASS	.	T		255,3769		9,237,1766	8	14	12		1641	-0.5	1	2	dbSNP_129	12	387,7855		11,365,3745	no	coding-synonymous	KLHL30	NM_198582.3		20,602,5511	TT,TC,CC		4.6955,6.337,5.234		547/579	239059610	642,11624	2012	4121	6133	SO:0001819	synonymous_variant	377007	exon8			CCACGGCGCCCTG		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1641C>T	2.37:g.239059610C>T		Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	191	115	0.602094	NM_198582	Q6ZUS1	Silent	SNP	ENST00000409223.1	37	CCDS46555.2																																																																																			C|0.961;T|0.039	0.039	strong		0.682	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		T	239059610	C	T	239059610	2	4	23	1	0	0	0	0	0	0	0	1	8384	755	27	1		1	KLHL30	2	239059610	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20698	239059610	4139763	832	17288										
PER2	8864	hgsc.bcm.edu	37	chr2	239157721	239157721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgccacgtcgatggctgcGggcaggccgcccgtctgcat	14	15	1	0	rs35873326	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239157721G>A	ENST00000254657.3	-	22	3879	c.3600C>T	c.(3598-3600)ccC>ccT	p.P1200P	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1200	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGATGGCTGCGGGCAGGCCGC	0.562													G|||	244	0.048722	0.1505	0.0245	5008	,	,		12948	0.0		0.0209	False		,,,				2504	0.0072				p.P1200P		Atlas-SNP	.											.	PER2	85	.	0			c.C3600T						PASS	.	G		529,3877	239.0+/-250.2	28,473,1702	113	125	121		3600	0	0	2	dbSNP_126	121	152,8448	72.3+/-134.9	1,150,4149	no	coding-synonymous	PER2	NM_022817.2		29,623,5851	AA,AG,GG		1.7674,12.0064,5.236		1200/1256	239157721	681,12325	2203	4300	6503	SO:0001819	synonymous_variant	8864	exon22			GGCTGCGGGCAGG	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3600C>T	2.37:g.239157721G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	94	46	0.489362	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																			G|0.950;A|0.050	0.050	strong		0.562	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239157721	G	A	239157721	2	1	23	1	0	0	0	0	0	0	0	1	11730	1103	39	1		1	PER2	2	239157721	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	98111	239157721	4041652	833	17289										
PER2	8864	hgsc.bcm.edu	37	chr2	239161957	239161957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtagcatgaatgccatgaCaggcgccaaaggggcaggga	17	8	0	2	rs35333999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239161957C>T	ENST00000254657.3	-	19	2986	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	903	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.		V -> I (in dbSNP:rs35333999).		circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AATGCCATGACAGGCGCCAAA	0.642													C|||	85	0.0169728	0.003	0.0288	5008	,	,		16468	0.0		0.0596	False		,,,				2504	0.001				p.V903I		Atlas-SNP	.											.	PER2	85	.	0			c.G2707A						PASS	.	C	ILE/VAL	36,4370	40.0+/-72.8	0,36,2167	43	46	45		2707	2.4	0.2	2	dbSNP_126	45	392,8208	122.9+/-181.8	4,384,3912	yes	missense	PER2	NM_022817.2	29	4,420,6079	TT,TC,CC		4.5581,0.8171,3.2908	possibly-damaging	903/1256	239161957	428,12578	2203	4300	6503	SO:0001583	missense	8864	exon19			CCATGACAGGCGC	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2707G>A	2.37:g.239161957C>T	ENSP00000254657:p.Val903Ile	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	49	0.022435897435897436	0	0.0	13	0.03591160220994475	0	0.0	36	0.047493403693931395	C	9.693	1.152364	0.21371	0.008171	0.045581	ENSG00000132326	ENST00000254657	T	0.12465	2.68	4.3	2.41	0.29592	.	0.357292	0.30142	N	0.010304	T	0.03739	0.0106	L	0.59436	1.845	0.19300	N	0.999971	D;D	0.58970	0.984;0.984	D;D	0.70016	0.956;0.967	T	0.04551	-1.0943	10	0.23302	T	0.38	-28.5715	3.5113	0.07709	0.1737:0.557:0.1692:0.1001	rs35333999	903;903	B4DH14;O15055	.;PER2_HUMAN	I	903	ENSP00000254657:V903I	ENSP00000254657:V903I	V	-	1	0	PER2	238826696	0.003000	0.15002	0.171000	0.22900	0.078000	0.17371	0.082000	0.14847	0.909000	0.36697	0.561000	0.74099	GTC	C|0.970;T|0.030	0.030	strong		0.642	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239161957	C	T	239161957	3	4	23	1	0	0	0	0	1	0	0	0	11730	478	17	2	1080	2	PER2	2	239161957	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4236	239161957	4037416	834	17290										
PER2	8864	hgsc.bcm.edu	37	chr2	239162318	239162318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaaggtgaatctattccGgaagtatttcttagtccagg	9	8	2	1	rs10195959	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:239162318G>A	ENST00000254657.3	-	19	2625	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	782					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AATCTATTCCGGAAGTATTTC	0.433													G|||	243	0.0485224	0.1513	0.0216	5008	,	,		16914	0.0		0.0209	False		,,,				2504	0.0072				p.S782S		Atlas-SNP	.											PER2,NS,carcinoma,0,1	PER2	85	1	0			c.C2346T						PASS	.	G		443,3719		13,417,1651	10	12	11		2346	0.2	0.3	2	dbSNP_119	11	136,8322		0,136,4093	no	coding-synonymous	PER2	NM_022817.2		13,553,5744	AA,AG,GG		1.6079,10.6439,4.588		782/1256	239162318	579,12041	2081	4229	6310	SO:0001819	synonymous_variant	8864	exon19			TATTCCGGAAGTA	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2346C>T	2.37:g.239162318G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																			G|0.950;A|0.050	0.050	strong		0.433	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239162318	G	A	239162318	2	1	23	1	0	0	0	0	0	0	0	1	11730	1103	39	1		1	PER2	2	239162318	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	361	239162318	4037055	835	17291										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982052	240982052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	21	5	0	4	rs77588089		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																					p.S116S		Atlas-SNP	.											PRR21,pharynx,carcinoma,0,4	PRR21	53	4	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)	c.G348C						scavenged	.						5	6	6					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905	exon1			CATGGACGAAGGG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G		Somatic	100	2	0.02		WXS	Illumina HiSeq	Phase_I	82	19	0.231707	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			C|0.250;G|0.750	0.750	weak		0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982052	C	G	240982052	2	3	23	1	0	0	0	0	0	0	0	1	12592	523	19	4		4	PRR21	2	240982052	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1819734	240982052	2217321	836	17292										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982131	240982131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggccgtgggtgaagaggcAtggatgaaggactgtgggtg	21	4	0	3	rs79839275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:240982131A>G	ENST00000408934.1	-	1	268	c.269T>C	c.(268-270)aTg>aCg	p.M90T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	90	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGATGAAGG	0.617													-|||	1342	0.267971	0.3094	0.2378	5008	,	,		13820	0.3591		0.2167	False		,,,				2504	0.1922				p.M90T		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)	c.T269C						scavenged	.	A	THR/MET	623,3545		160,303,1621	145	139	141		269	-3.6	0	2	dbSNP_131	141	921,7389		239,443,3473	no	missense	PRR21	NM_001080835.1	81	399,746,5094	GG,GA,AA		11.083,14.9472,12.3738	benign	90/390	240982131	1544,10934	2084	4155	6239	SO:0001583	missense	643905	exon1			AGAGGCATGGATG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.269T>C	2.37:g.240982131A>G	ENSP00000386166:p.Met90Thr	Somatic	211	3	0.014218		WXS	Illumina HiSeq	Phase_I	190	94	0.494737	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	573	0.2623626373626374	126	0.25609756097560976	81	0.22375690607734808	202	0.3531468531468531	164	0.21635883905013192	-	0.001	-3.069052	0.00036	0.149472	0.11083	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13196	2.61;2.61	1.79	-3.59	0.04583	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.10450	0.005	T	0.48103	-0.9064	8	0.21014	T	0.42	.	6.6332	0.22869	0.1723:0.4441:0.3836:0.0	.	90	Q8WXC7	PRR21_HUMAN	T	90	ENSP00000386166:M90T;ENSP00000418240:M90T	ENSP00000386166:M90T	M	-	2	0	PRR21	240630804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.360000	0.20250	-2.294000	0.00663	-0.489000	0.04712	ATG	A|0.737;G|0.263	0.263	strong		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982131	A	G	240982131	3	3	23	1	0	0	0	0	1	0	0	0	12592	217	8	2	903	2	PRR21	2	240982131	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	79	240982131	2217242	837	17293										
MYEOV2	150678	hgsc.bcm.edu	37	chr2	241066280	241066280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctggtaaacattagcgcCtccgccccctgcccatggcc	8	18	1	0	rs4292120	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241066280C>T	ENST00000307266.3	-	5	458	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ACATTAGCGCCTCCGCCCCCT	0.542													T|||	3605	0.719848	0.9705	0.6744	5008	,	,		18094	0.7252		0.5696	False		,,,				2504	0.5624				p.E153E		Atlas-SNP	.											.	MYEOV2	20	.	0			c.G459A						PASS	.	T		3975,431	209.2+/-230.0	1788,399,16	166	174	171		459	-0.1	0	2	dbSNP_111	171	4761,3839	540.2+/-383.8	1344,2073,883	no	coding-synonymous	MYEOV2	NM_138336.1		3132,2472,899	TT,TC,CC		44.6395,9.7821,32.831		153/253	241066280	8736,4270	2203	4300	6503	SO:0001819	synonymous_variant	150678	exon5			TAGCGCCTCCGCC	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.459G>A	2.37:g.241066280C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	145	60	0.413793	NM_138336	Q8N110	Silent	SNP	ENST00000307266.3	37	CCDS2532.1																																																																																			C|0.304;T|0.696	0.696	strong		0.542	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		T	241066280	C	T	241066280	2	4	23	1	0	0	0	0	0	0	0	1	10026	680	24	2		2	MYEOV2	2	241066280	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	84149	241066280	2133093	838	17294										
ANKMY1	51281	hgsc.bcm.edu	37	chr2	241463453	241463453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaagtcgcacacacacaCgttggactcaaatttcgtct	9	11	2	1	rs3821348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241463453C>A	ENST00000272972.3	-	7	1628	c.1414G>T	c.(1414-1416)Gtg>Ttg	p.V472L	ANKMY1_ENST00000403283.1_Missense_Mutation_p.V410L|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000401804.1_Missense_Mutation_p.V561L|ANKMY1_ENST00000405523.3_Missense_Mutation_p.V331L|ANKMY1_ENST00000391987.1_Missense_Mutation_p.V472L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.V242L|ANKMY1_ENST00000405002.1_Missense_Mutation_p.V242L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.V331L|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Missense_Mutation_p.V331L|ANKMY1_ENST00000536462.1_Missense_Mutation_p.V284L	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	472			V -> L (in dbSNP:rs3821348). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14702039}.				metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACACACACACGTTGGACTCA	0.597													C|||	818	0.163339	0.1089	0.1412	5008	,	,		21397	0.0992		0.1769	False		,,,				2504	0.3047				p.V472L		Atlas-SNP	.											.	ANKMY1	112	.	0			c.G1414T						PASS	.	C	LEU/VAL,LEU/VAL	509,3897	235.8+/-248.2	33,443,1727	142	124	130		1414,991	-8.1	0	2	dbSNP_107	130	1367,7233	264.6+/-285.7	99,1169,3032	yes	missense,missense	ANKMY1	NM_016552.2,NM_017844.2	32,32	132,1612,4759	AA,AC,CC		15.8953,11.5524,14.4241	benign,benign	472/942,331/718	241463453	1876,11130	2203	4300	6503	SO:0001583	missense	51281	exon7			CACACACGTTGGA	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1414G>T	2.37:g.241463453C>A	ENSP00000272972:p.Val472Leu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_016552	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	CCDS2536.1	334	0.15293040293040294	62	0.12601626016260162	55	0.15193370165745856	65	0.11363636363636363	152	0.20052770448548812	C	0.659	-0.806463	0.02819	0.115524	0.158953	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.54071	3.02;0.6;2.35;0.6;4.48;2.58;0.59;2.4;2.36;2.65	4.06	-8.12	0.01078	Ankyrin repeat-containing domain (1);	11.972400	0.00166	N	0.000000	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.002;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.002;0.0	T	0.03315	-1.1049	9	0.27785	T	0.31	-50.1229	11.6405	0.51230	0.0:0.1362:0.6239:0.24	rs3821348;rs17442610;rs61619400;rs3821348	472;284;242;331;331;472	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	L	331;472;331;472;242;410;561;284;331;242	ENSP00000362415:V331L;ENSP00000272972:V472L;ENSP00000355097:V331L;ENSP00000375847:V472L;ENSP00000362417:V242L;ENSP00000383968:V410L;ENSP00000385887:V561L;ENSP00000444707:V284L;ENSP00000385635:V331L;ENSP00000385145:V242L	ENSP00000272972:V472L	V	-	1	0	ANKMY1	241112126	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.542000	0.00935	-2.329000	0.00634	-0.327000	0.08410	GTG	C|0.846;A|0.147	0.147	strong		0.597	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		A	241463453	C	A	241463453	3	1	23	1	0	0	0	0	1	0	0	0	634	536	19	4	1455	4	ANKMY1	2	241463453	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	397173	241463453	1735920	839	17295										
CAPN10	11132	hgsc.bcm.edu	37	chr2	241526428	241526428	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcgacttgtctacgccgCtggcccagttccgcgaggac	12	15	2	0	rs138005500	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241526428C>G	ENST00000391984.2	+	1	296	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CAPN10_ENST00000391982.2_Missense_Mutation_p.L34V|CAPN10_ENST00000352879.4_Missense_Mutation_p.L34V|CAPN10_ENST00000404753.3_Missense_Mutation_p.L34V|CAPN10_ENST00000270364.7_Missense_Mutation_p.L34V|CAPN10_ENST00000354082.4_Missense_Mutation_p.L34V|CAPN10-AS1_ENST00000567819.1_RNA	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	34	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTCTACGCCGCTGGCCCAGTT	0.726													C|||	18	0.00359425	0.0	0.0014	5008	,	,		11190	0.0		0.0169	False		,,,				2504	0.0				p.L34V		Atlas-SNP	.											.	CAPN10	105	.	0			c.C100G						PASS	.	C	VAL/LEU,VAL/LEU	4,4070		0,4,2033	5	5	5		100,100	2.5	1	2	dbSNP_134	5	46,8054		0,46,4004	yes	missense,missense	CAPN10	NM_023083.3,NM_023085.3	32,32	0,50,6037	GG,GC,CC		0.5679,0.0982,0.4107	probably-damaging,probably-damaging	34/673,34/518	241526428	50,12124	2037	4050	6087	SO:0001583	missense	11132	exon1			ACGCCGCTGGCCC	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.100C>G	2.37:g.241526428C>G	ENSP00000375844:p.Leu34Val	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	94	55	0.585106	NM_023085	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	20	0.009157509157509158	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	17	0.022427440633245383	C	14.30	2.493770	0.44352	9.82E-4	0.005679	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000352879;ENST00000354082	T;T;T;T;T;T	0.42513	2.39;2.39;2.39;0.97;0.97;2.39	3.44	2.55	0.30701	Peptidase C2, calpain, catalytic domain (3);	0.273086	0.30704	N	0.009053	T	0.29491	0.0735	L	0.42581	1.335	0.41081	D	0.985527	D;P;D;D;P	0.69078	0.997;0.909;0.987;0.994;0.955	D;P;P;P;P	0.66196	0.942;0.455;0.735;0.904;0.843	T	0.24012	-1.0172	10	0.17369	T	0.5	.	6.6983	0.23211	0.0:0.8657:0.0:0.1343	.	34;34;34;34;34	B7Z6G3;Q9HC96-7;Q9HC96-8;Q9HC96-3;Q9HC96	.;.;.;.;CAN10_HUMAN	V	34	ENSP00000375844:L34V;ENSP00000375842:L34V;ENSP00000384422:L34V;ENSP00000270364:L34V;ENSP00000289381:L34V;ENSP00000270362:L34V	ENSP00000270361:L34V	L	+	1	2	CAPN10	241175101	0.818000	0.29161	1.000000	0.80357	0.952000	0.60782	1.288000	0.33296	0.655000	0.30866	0.655000	0.94253	CTG	C|0.991;G|0.009	0.009	strong		0.726	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		G	241526428	C	G	241526428	3	3	23	1	0	0	0	0	1	0	0	0	2623	796	28	4	102	4	CAPN10	2	241526428	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	62975	241526428	1672945	840	17296										
CAPN10	11132	hgsc.bcm.edu	37	chr2	241531479	241531479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggccagcaggacaggccAggccgctgggagcacaggac	18	12	0	0	rs3792269	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241531479A>G	ENST00000391984.2	+	4	796	c.600A>G	c.(598-600)ccA>ccG	p.P200P	CAPN10_ENST00000391982.2_Silent_p.P200P|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.P200P|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.P200P	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	200	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		P -> T (in dbSNP:rs3792268). {ECO:0000269|PubMed:11017071}.		actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGGACAGGCCAGGCCGCTGGG	0.667													G|||	589	0.117612	0.0287	0.1254	5008	,	,		20411	0.0972		0.159	False		,,,				2504	0.2106				p.P200P		Atlas-SNP	.											.	CAPN10	105	.	0			c.A600G						PASS	.	G	,	229,4173		4,221,1976	27	29	29		600,600	-8.8	0	2	dbSNP_107	29	1388,7206		117,1154,3026	no	coding-synonymous,coding-synonymous	CAPN10	NM_023083.3,NM_023085.3	,	121,1375,5002	GG,GA,AA		16.1508,5.2022,12.4423	,	200/673,200/518	241531479	1617,11379	2201	4297	6498	SO:0001819	synonymous_variant	11132	exon4			CAGGCCAGGCCGC	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.600A>G	2.37:g.241531479A>G		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	228	106	0.464912	NM_023085	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	CCDS42838.1																																																																																			A|0.886;G|0.114	0.114	strong		0.667	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		G	241531479	A	G	241531479	2	3	23	1	0	0	0	0	0	0	0	1	2623	175	7	3		3	CAPN10	2	241531479	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5051	241531479	1667894	841	17297										
AQP12A	375318	hgsc.bcm.edu	37	chr2	241631499	241631499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgcctggagatgaggacGctggtcgagctcgggccctg	17	11	0	2	rs200769008		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241631499G>A	ENST00000337801.4	+	2	201	c.132G>A	c.(130-132)acG>acA	p.T44T	AQP12A_ENST00000429564.1_Silent_p.T56T|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	44						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGATGAGGACGCTGGTCGAGC	0.701													g|||	1	0.000199681	0.0	0.0	5008	,	,		12447	0.0		0.001	False		,,,				2504	0.0				p.T44T		Atlas-SNP	.											AQP12A,NS,carcinoma,+1,1	AQP12A	32	1	0			c.G132A						PASS	.						25	37	33					2																	241631499		2147	4265	6412	SO:0001819	synonymous_variant	375318	exon2			GAGGACGCTGGTC	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.132G>A	2.37:g.241631499G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	110	49	0.445455	NM_198998		Silent	SNP	ENST00000337801.4	37																																																																																				G|0.998;A|0.002	0.002	weak		0.701	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		A	241631499	G	A	241631499	2	1	23	1	0	0	0	0	0	0	0	1	824	1074	38	1		1	AQP12A	2	241631499	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	100020	241631499	1567874	842	17298										
AGXT	189	hgsc.bcm.edu	37	chr2	241808314	241808314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagctgctggtgaccccccCcaaggccctgctcaagcccc	9	20	1	1	rs34116584	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241808314C>T	ENST00000307503.3	+	1	419	c.32C>T	c.(31-33)cCc>cTc	p.P11L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	11			P -> L (common polymorphism; reduction of specific activity in vitro; causes mistargeting when associated with R-170; dbSNP:rs34116584). {ECO:0000269|PubMed:1703535}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GTGACCCCCCCCAAGGCCCTG	0.662													C|||	405	0.0808706	0.0363	0.1311	5008	,	,		14113	0.0		0.2048	False		,,,				2504	0.0613				p.P11L		Atlas-SNP	.											AGXT,NS,carcinoma,+1,1	AGXT	50	1	0			c.C32T	GRCh37	CD073566|CM910014	AGXT	D|M	rs34116584	scavenged	.	C	LEU/PRO	269,4129	144.2+/-179.2	7,255,1937	27	31	30	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	32	4.4	0	2	dbSNP_126	30	1749,6849	299.4+/-304.4	186,1377,2736	no	missense	AGXT	NM_000030.2	98	193,1632,4673	TT,TC,CC		20.3419,6.1164,15.5279	probably-damaging	11/393	241808314	2018,10978	2199	4299	6498	SO:0001583	missense	189	exon1			CCCCCCCCAAGGC	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.32C>T	2.37:g.241808314C>T	ENSP00000302620:p.Pro11Leu	Somatic	309	3	0.00970874		WXS	Illumina HiSeq	Phase_I	305	299	0.980328	NM_000030	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	236	0.10805860805860806	27	0.054878048780487805	50	0.13812154696132597	0	0.0	159	0.20976253298153033	C	15.11	2.736816	0.49045	0.061164	0.203419	ENSG00000172482	ENST00000307503	D	0.88277	-2.36	4.42	4.42	0.53409	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.00845	0.0028	M	0.78916	2.43	0.09310	P	0.999999999521237	D	0.89917	1.0	D	0.97110	1.0	T	0.01349	-1.1378	9	0.66056	D	0.02	-18.1328	11.6352	0.51200	0.0:0.9131:0.0:0.0869	rs34116584	11	P21549	SPYA_HUMAN	L	11	ENSP00000302620:P11L	ENSP00000302620:P11L	P	+	2	0	AGXT	241456987	0.996000	0.38824	0.023000	0.16930	0.149000	0.21700	6.302000	0.72788	2.014000	0.59158	0.484000	0.47621	CCC	A|0.000;C|0.871;T|0.129	0.129	strong		0.662	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		T	241808314	C	T	241808314	3	4	23	1	0	0	0	0	1	0	0	0	404	623	22	2	34	2	AGXT	2	241808314	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	176815	241808314	1391059	843	17299										
SNED1	25992	hgsc.bcm.edu	37	chr2	241979550	241979550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccagtgccaggtggagaaTggctctgcggtgtgtgtgtg	19	7	1	1	rs7571117	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:241979550T>C	ENST00000310397.8	+	7	1104	c.1104T>C	c.(1102-1104)aaT>aaC	p.N368N	SNED1_ENST00000342631.6_Silent_p.N368N|SNED1_ENST00000401884.1_Silent_p.N368N|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.N368N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	368	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like 1.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGTGGAGAATGGCTCTGCGG	0.612													C|||	2241	0.447484	0.6059	0.3473	5008	,	,		19799	0.3214		0.4602	False		,,,				2504	0.4213				p.N368N		Atlas-SNP	.											.	SNED1	76	.	0			c.T1104C						PASS	.	C		2626,1640		827,972,334	32	39	37		1104	-4.8	0	2	dbSNP_116	37	4146,4356		1043,2060,1148	no	coding-synonymous	SNED1	NM_001080437.1		1870,3032,1482	CC,CT,TT		48.765,38.4435,46.9612		368/1414	241979550	6772,5996	2133	4251	6384	SO:0001819	synonymous_variant	25992	exon7			GGAGAATGGCTCT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1104T>C	2.37:g.241979550T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	126	46	0.365079	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	954|954	0.4368131868131868|0.4368131868131868	291|291	0.5914634146341463|0.5914634146341463	130|130	0.35911602209944754|0.35911602209944754	189|189	0.3304195804195804|0.3304195804195804	344|344	0.45382585751978893|0.45382585751978893	C|C	0.088|0.088	-1.172244|-1.172244	0.01646|0.01646	0.615565|0.615565	0.48765|0.48765	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	4.73|4.73	-4.77|-4.77	0.03219|0.03219	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43686|0.43686	-0.9376|-0.9376	3|3	.|.	.|.	.|.	.|.	2.7388|2.7388	0.05247|0.05247	0.1001:0.2577:0.1972:0.445|0.1001:0.2577:0.1972:0.445	rs7571117;rs61028234;rs7571117|rs7571117;rs61028234;rs7571117	.|.	.|.	.|.	T|R	26|65	.|.	.|.	M|W	+|+	2|1	0|0	SNED1|SNED1	241628223|241628223	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.799000|-1.799000	0.01746|0.01746	-1.361000|-1.361000	0.02169|0.02169	-0.972000|-0.972000	0.02603|0.02603	ATG|TGG	T|0.554;C|0.446	0.446	strong		0.612	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	241979550	T	C	241979550	2	2	23	1	0	0	0	0	0	0	0	1	14845	1461	51	2		2	SNED1	2	241979550	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	171236	241979550	1219823	844	17300										
ANO7	50636	hgsc.bcm.edu	37	chr2	242151585	242151585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccagttcgtcaacttctaCtcctcacccgtctacattgc	4	16	4	0	rs7593101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242151585C>T	ENST00000274979.8	+	16	1903	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ANO7_ENST00000402430.3_Silent_p.Y599Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	600					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCAACTTCTACTCCTCACCCG	0.567													C|||	795	0.158746	0.2716	0.2032	5008	,	,		21437	0.0		0.2416	False		,,,				2504	0.0532				p.Y600Y		Atlas-SNP	.											.	ANO7	136	.	0			c.C1800T						PASS	.	C		1105,3301	394.4+/-329.3	129,847,1227	188	147	161		1800	2	0.9	2	dbSNP_116	161	1988,6612	347.2+/-326.5	226,1536,2538	no	coding-synonymous	ANO7	NM_001001891.3		355,2383,3765	TT,TC,CC		23.1163,25.0794,23.7813		600/934	242151585	3093,9913	2203	4300	6503	SO:0001819	synonymous_variant	50636	exon16			CTTCTACTCCTCA	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1800C>T	2.37:g.242151585C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	131	67	0.51145	NM_001001891	Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1																																																																																			C|0.787;T|0.213	0.213	strong		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		T	242151585	C	T	242151585	2	4	23	1	0	0	0	0	0	0	0	1	702	576	20	2		2	ANO7	2	242151585	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	172035	242151585	1047788	845	17301										
ANO7	50636	hgsc.bcm.edu	37	chr2	242157228	242157228	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgcgagtaccggcgcccGgtggccgagcgcgcccagga	17	15	1	0	rs78605785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242157228G>T	ENST00000274979.8	+	20	2365	c.2262G>T	c.(2260-2262)ccG>ccT	p.P754P	ANO7_ENST00000402430.3_Silent_p.P753P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	754					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCGGCGCCCGGTGGCCGAGC	0.706													g|||	615	0.122804	0.1573	0.183	5008	,	,		8027	0.0		0.2356	False		,,,				2504	0.044				p.P754P		Atlas-SNP	.											.	ANO7	136	.	0			c.G2262T						PASS	.			646,3732		49,548,1592	16	18	18		2262	-5.3	1	2	dbSNP_131	18	1869,6707		204,1461,2623	no	coding-synonymous	ANO7	NM_001001891.3		253,2009,4215	TT,TG,GG		21.7934,14.7556,19.4149		754/934	242157228	2515,10439	2189	4288	6477	SO:0001819	synonymous_variant	50636	exon20			GCGCCCGGTGGCC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2262G>T	2.37:g.242157228G>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	109	51	0.46789	NM_001001891	Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	g	12.25	1.883025	0.33255	0.147556	0.217934	ENSG00000146205	ENST00000451047	.	.	.	2.69	-5.26	0.02772	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	.	5.1019	0.14764	0.1079:0.4916:0.289:0.1115	.	.	.	.	C	67	.	.	G	+	1	0	ANO7	241805901	0.000000	0.05858	0.983000	0.44433	0.985000	0.73830	-4.591000	0.00211	-0.621000	0.05633	0.298000	0.19748	GGT	C|0.028;G|0.842;T|0.131	0.131	strong		0.706	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		T	242157228	G	T	242157228	2	4	23	1	0	0	0	0	0	0	0	1	702	1103	39	4		4	ANO7	2	242157228	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5643	242157228	1042145	846	17302										
ANO7	50636	hgsc.bcm.edu	37	chr2	242157241	242157241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgcccggtggccgagcgcGcccaggacatcggcatctgg	17	15	1	0	rs76832527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242157241G>A	ENST00000274979.8	+	20	2378	c.2275G>A	c.(2275-2277)Gcc>Acc	p.A759T	ANO7_ENST00000402430.3_Missense_Mutation_p.A758T	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	759					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGCCGAGCGCGCCCAGGACAT	0.721													g|||	555	0.110823	0.0174	0.1758	5008	,	,		7845	0.1131		0.172	False		,,,				2504	0.1258				p.A759T		Atlas-SNP	.											ANO7,colon,carcinoma,-2,1	ANO7	136	1	0			c.G2275A						scavenged	.		THR/ALA	215,4153		9,197,1978	16	17	17		2275	2.8	1	2	dbSNP_131	17	1483,7097		131,1221,2938	yes	missense	ANO7	NM_001001891.3	58	140,1418,4916	AA,AG,GG		17.2844,4.9222,13.114	possibly-damaging	759/934	242157241	1698,11250	2184	4290	6474	SO:0001583	missense	50636	exon20			GAGCGCGCCCAGG	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2275G>A	2.37:g.242157241G>A	ENSP00000274979:p.Ala759Thr	Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	96	48	0.5	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	255|255	0.11675824175824176|0.11675824175824176	10|10	0.02032520325203252|0.02032520325203252	68|68	0.1878453038674033|0.1878453038674033	61|61	0.10664335664335664|0.10664335664335664	116|116	0.15303430079155672|0.15303430079155672	g|g	22.8|22.8	4.333562|4.333562	0.81801|0.81801	0.049222|0.049222	0.172844|0.172844	ENSG00000146205|ENSG00000146205	ENST00000274979;ENST00000402430|ENST00000451047	T;T|T	0.67171|0.69806	-0.25;-0.25|-0.43	2.84|2.84	2.84|2.84	0.33178|0.33178	.|.	0.152058|.	0.42821|.	N|.	0.000643|.	T|T	0.00241|0.00241	0.0007|0.0007	L|L	0.52011|0.52011	1.625|1.625	0.21499|0.21499	P|P	0.9996691|0.9996691	P|.	0.41673|.	0.759|.	B|.	0.38378|.	0.272|.	T|T	0.26087|0.26087	-1.0113|-1.0113	9|6	0.56958|0.87932	D|D	0.05|0	.|.	13.5641|13.5641	0.61807|0.61807	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	759|.	Q6IWH7|.	ANO7_HUMAN|.	T|H	759;758|71	ENSP00000274979:A759T;ENSP00000385418:A758T|ENSP00000403625:R71H	ENSP00000274979:A759T|ENSP00000403625:R71H	A|R	+|+	1|2	0|0	ANO7|ANO7	241805914|241805914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.276000|8.276000	0.89894|0.89894	1.305000|1.305000	0.44909|0.44909	0.298000|0.298000	0.19748|0.19748	GCC|CGC	G|0.874;A|0.126	0.126	strong		0.721	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242157241	G	A	242157241	3	1	23	1	0	0	0	0	1	0	0	0	702	1087	38	1	2425	1	ANO7	2	242157241	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13	242157241	1042132	847	17303										
HDLBP	3069	hgsc.bcm.edu	37	chr2	242179134	242179134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaagctgaccatcaccccGccatactcttcagcaatctc	7	16	4	1	rs10153800	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242179134G>A	ENST00000391975.1	-	19	2720	c.2493C>T	c.(2491-2493)ggC>ggT	p.G831G	HDLBP_ENST00000310931.4_Silent_p.G831G|HDLBP_ENST00000391976.2_Silent_p.G831G|HDLBP_ENST00000427183.2_Silent_p.G798G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	831	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCATCACCCCGCCATACTCTT	0.587													G|||	681	0.135982	0.1725	0.1902	5008	,	,		19432	0.001		0.2684	False		,,,				2504	0.0511				p.G831G		Atlas-SNP	.											.	HDLBP	118	.	0			c.C2493T						PASS	.	G	,	774,3632	313.8+/-293.3	58,658,1487	84	79	80		2493,2493	-10.8	0	2	dbSNP_119	80	2092,6508	360.6+/-332.0	257,1578,2465	no	coding-synonymous,coding-synonymous	HDLBP	NM_005336.4,NM_203346.3	,	315,2236,3952	AA,AG,GG		24.3256,17.567,22.036	,	831/1269,831/1269	242179134	2866,10140	2203	4300	6503	SO:0001819	synonymous_variant	3069	exon19			CACCCCGCCATAC		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2493C>T	2.37:g.242179134G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	101	54	0.534653	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	352|352	0.16117216117216118|0.16117216117216118	72|72	0.14634146341463414|0.14634146341463414	78|78	0.2154696132596685|0.2154696132596685	1|1	0.0017482517482517483|0.0017482517482517483	201|201	0.26517150395778366|0.26517150395778366	G|G	6.986|6.986	0.552057|0.552057	0.13374|0.13374	0.17567|0.17567	0.243256|0.243256	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000373292	.|.	.|.	.|.	5.41|5.41	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999999710125|0.999999999710125	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.14839|0.14839	-1.0458|-1.0458	3|3	.|.	.|.	.|.	-18.8764|-18.8764	3.2359|3.2359	0.06765|0.06765	0.2438:0.0884:0.4068:0.2609|0.2438:0.0884:0.4068:0.2609	rs10153800;rs10153800|rs10153800;rs10153800	.|.	.|.	.|.	V|W	233|640	.|.	.|.	A|R	-|-	2|1	0|2	HDLBP|HDLBP	241827807|241827807	0.000000|0.000000	0.05858|0.05858	0.026000|0.026000	0.17262|0.17262	0.604000|0.604000	0.37047|0.37047	-2.605000|-2.605000	0.00889|0.00889	-1.863000|-1.863000	0.01150|0.01150	-1.288000|-1.288000	0.01363|0.01363	GCG|CGG	G|0.800;A|0.200	0.200	strong		0.587	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		A	242179134	G	A	242179134	2	1	23	1	0	0	0	0	0	0	0	1	7025	1074	38	1		1	HDLBP	2	242179134	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21893	242179134	1020239	848	17304										
FARP2	9855	hgsc.bcm.edu	37	chr2	242371101	242371101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttgcatttcagggcaccaCcaaaatcaacactttcaact	4	13	4	0	rs757978	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242371101C>T	ENST00000264042.3	+	9	949	c.779C>T	c.(778-780)aCc>aTc	p.T260I	FARP2_ENST00000545004.1_Missense_Mutation_p.T260I|FARP2_ENST00000373287.4_Missense_Mutation_p.T260I	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	260	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		T -> I (in dbSNP:rs757978).		actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGCACCACCAAAATCAAC	0.383													C|||	403	0.0804712	0.1082	0.0807	5008	,	,		11204	0.0238		0.0974	False		,,,				2504	0.0838				p.T260I		Atlas-SNP	.											.	FARP2	92	.	0			c.C779T						PASS	.	C	ILE/THR	426,3980	206.2+/-227.9	22,382,1799	118	106	110	http://www.ncbi.nlm.nih.gov/pubmed?term	779	4.8	1	2	dbSNP_86	110	961,7639	210.5+/-251.4	47,867,3386	yes	missense	FARP2	NM_014808.2	89	69,1249,5185	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	11.1744,9.6686,10.6643	probably-damaging	260/1055	242371101	1387,11619	2203	4300	6503	SO:0001583	missense	9855	exon9			GCACCACCAAAAT	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.779C>T	2.37:g.242371101C>T	ENSP00000264042:p.Thr260Ile	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	79	41	0.518987	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	171	0.0782967032967033	51	0.10365853658536585	22	0.06077348066298342	19	0.033216783216783216	79	0.10422163588390501	c	21.0	4.075661	0.76415	0.096686	0.111744	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	D;D;D	0.87179	-2.22;-2.22;-2.22	4.79	4.79	0.61399	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.126402	0.53938	D	0.000056	T	0.23688	0.0573	L	0.49640	1.575	0.09310	P	0.999999999237139	D;D;D	0.89917	1.0;0.988;1.0	D;D;D	0.97110	0.999;0.944;1.0	T	0.65092	-0.6252	9	0.30078	T	0.28	.	18.2564	0.90021	0.0:1.0:0.0:0.0	rs757978;rs17452163;rs59395776;rs757978	260;260;260	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	I	260	ENSP00000264042:T260I;ENSP00000443876:T260I;ENSP00000362384:T260I	ENSP00000264042:T260I	T	+	2	0	FARP2	242019774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.828000	0.69307	2.382000	0.81193	0.539000	0.68188	ACC	C|0.901;T|0.099	0.099	strong		0.383	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			T	242371101	C	T	242371101	3	4	23	1	0	0	0	0	1	0	0	0	5677	507	18	2	809	2	FARP2	2	242371101	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	191967	242371101	828272	849	17305										
FARP2	9855	hgsc.bcm.edu	37	chr2	242373714	242373714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaagccgtcttcttcagcCggggctcctccttcagatac	8	15	4	1	rs372818608		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242373714C>T	ENST00000264042.3	+	10	1179	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	FARP2_ENST00000545004.1_Missense_Mutation_p.R337W|FARP2_ENST00000373287.4_Missense_Mutation_p.R337W	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	337					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTTCTTCAGCCGGGGCTCCTC	0.463																																					p.R337W		Atlas-SNP	.											.	FARP2	92	.	0			c.C1009T						PASS	.	C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	78	81	80		1009	4.1	1	2		80	0,8600		0,0,4300	no	missense	FARP2	NM_014808.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	337/1055	242373714	2,13004	2203	4300	6503	SO:0001583	missense	9855	exon10			TTCAGCCGGGGCT	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1009C>T	2.37:g.242373714C>T	ENSP00000264042:p.Arg337Trp	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696420	0.68386	4.54E-4	0.0	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.04	4.13	0.48395	FERM adjacent (FA) (1);	0.062830	0.64402	D	0.000012	D	0.93851	0.8033	M	0.88105	2.93	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94179	0.7430	10	0.66056	D	0.02	.	12.8745	0.57982	0.3929:0.6071:0.0:0.0	.	337;337;337	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	W	337;337;337;24	ENSP00000264042:R337W;ENSP00000443876:R337W;ENSP00000362384:R337W;ENSP00000412772:R24W	ENSP00000264042:R337W	R	+	1	2	FARP2	242022387	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.660000	0.37397	1.023000	0.39654	0.557000	0.71058	CGG	.	.	weak		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			T	242373714	C	T	242373714	3	4	23	1	0	0	0	0	1	0	0	0	5677	643	23	1	1043	1	FARP2	2	242373714	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2613	242373714	825659	850	17306										
FARP2	9855	hgsc.bcm.edu	37	chr2	242396209	242396209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccctccagccggaagagcCccctgagtctgagccctgca	10	18	1	3	rs145630778		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242396209C>A	ENST00000264042.3	+	14	1629	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T	FARP2_ENST00000545004.1_Missense_Mutation_p.P487T|FARP2_ENST00000373287.4_Missense_Mutation_p.P487T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	487	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCGGAAGAGCCCCCTGAGTCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17269	0.0		0.001	False		,,,				2504	0.0				p.P487T		Atlas-SNP	.											.	FARP2	92	.	0			c.C1459A						PASS	.	C	THR/PRO	0,4406		0,0,2203	85	85	85		1459	3	0.2	2	dbSNP_134	85	1,8599	2.2+/-6.3	0,1,4299	yes	missense	FARP2	NM_014808.2	38	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	487/1055	242396209	1,13005	2203	4300	6503	SO:0001583	missense	9855	exon14			AAGAGCCCCCTGA	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1459C>A	2.37:g.242396209C>A	ENSP00000264042:p.Pro487Thr	Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	258	120	0.465116	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.91	1.485420	0.26686	0.0	1.16E-4	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;D	0.81499	-0.98;-1.49;-1.5	5.18	3.03	0.35002	.	0.717669	0.13260	N	0.401364	T	0.67552	0.2905	L	0.32530	0.975	0.26033	N	0.981711	P;B;B	0.34724	0.465;0.328;0.22	B;B;B	0.34242	0.178;0.124;0.058	T	0.53322	-0.8455	10	0.12103	T	0.63	.	9.2186	0.37362	0.0:0.7326:0.0:0.2674	.	487;487;487	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	T	487	ENSP00000264042:P487T;ENSP00000443876:P487T;ENSP00000362384:P487T	ENSP00000264042:P487T	P	+	1	0	FARP2	242044882	1.000000	0.71417	0.234000	0.24042	0.857000	0.48899	3.646000	0.54396	1.195000	0.43115	-0.192000	0.12808	CCC	C|1.000;A|0.000	0.000	strong		0.617	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			A	242396209	C	A	242396209	3	1	23	1	0	0	0	0	1	0	0	0	5677	623	22	4	1509	4	FARP2	2	242396209	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22495	242396209	803164	851	17307										
FARP2	9855	hgsc.bcm.edu	37	chr2	242407588	242407588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttccaaagacatgacgagGtcctaacagaactggaaaag	9	9	0	3	rs41342147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242407588G>A	ENST00000264042.3	+	18	2097	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	643	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		V -> I (in dbSNP:rs41342147).		actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATGACGAGGTCCTAACAGA	0.522													G|||	422	0.0842652	0.0938	0.0893	5008	,	,		20182	0.0258		0.1153	False		,,,				2504	0.0961				p.V643I		Atlas-SNP	.											FARP2,rectum,carcinoma,-2,1	FARP2	92	1	0			c.G1927A						PASS	.	G	ILE/VAL	376,4030	188.1+/-214.6	19,338,1846	167	169	169		1927	5	1	2	dbSNP_127	169	1140,7460	235.3+/-267.9	72,996,3232	yes	missense	FARP2	NM_014808.2	29	91,1334,5078	AA,AG,GG		13.2558,8.5338,11.6562	probably-damaging	643/1055	242407588	1516,11490	2203	4300	6503	SO:0001583	missense	9855	exon18			GACGAGGTCCTAA	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1927G>A	2.37:g.242407588G>A	ENSP00000264042:p.Val643Ile	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	152	72	0.473684	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	185	0.08470695970695971	43	0.08739837398373984	28	0.07734806629834254	21	0.03671328671328671	93	0.12269129287598944	G	21.3	4.129199	0.77549	0.085338	0.132558	ENSG00000006607	ENST00000264042	T	0.63417	-0.04	4.96	4.96	0.65561	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.01523	0.0049	L	0.31804	0.96	0.09310	P	1.0	D	0.76494	0.999	D	0.85130	0.997	T	0.13229	-1.0517	9	0.12766	T	0.61	.	18.2382	0.89957	0.0:0.0:1.0:0.0	rs41342147;rs61752501;rs41342147	643	O94887	FARP2_HUMAN	I	643	ENSP00000264042:V643I	ENSP00000264042:V643I	V	+	1	0	FARP2	242056261	1.000000	0.71417	0.975000	0.42487	0.898000	0.52572	9.096000	0.94182	2.290000	0.77057	0.655000	0.94253	GTC	G|0.892;A|0.108	0.108	strong		0.522	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			A	242407588	G	A	242407588	3	1	23	1	0	0	0	0	1	0	0	0	5677	1261	44	2	1993	2	FARP2	2	242407588	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11379	242407588	791785	852	17308										
D2HGDH	728294	hgsc.bcm.edu	37	chr2	242690745	242690745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggccacttcctggagcacgCgctgggctccggcctggtga	16	14	0	1	rs1105273	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242690745C>T	ENST00000321264.4	+	8	1291	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	D2HGDH_ENST00000403782.1_Missense_Mutation_p.A227V|D2HGDH_ENST00000486953.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	361			A -> V (in dbSNP:rs1105273).		2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGGAGCACGCGCTGGGCTCC	0.617													C|||	1078	0.215256	0.2882	0.3271	5008	,	,		19217	0.2242		0.1133	False		,,,				2504	0.1329				p.A361V		Atlas-SNP	.											D2HGDH,NS,carcinoma,-1,1	D2HGDH	39	1	0			c.C1082T						PASS	.	T	VAL/ALA	1168,3238	408.0+/-334.4	153,862,1188	54	51	52		1082	-7.9	0	2	dbSNP_86	52	912,7680	201.8+/-245.2	50,812,3434	yes	missense	D2HGDH	NM_152783.3	64	203,1674,4622	TT,TC,CC		10.6145,26.5093,16.0025	benign	361/522	242690745	2080,10918	2203	4296	6499	SO:0001583	missense	728294	exon8			AGCACGCGCTGGG	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1082C>T	2.37:g.242690745C>T	ENSP00000315351:p.Ala361Val	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	136	57	0.419118	NM_152783	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	CCDS33426.1	468	0.21428571428571427	134	0.27235772357723576	111	0.30662983425414364	132	0.23076923076923078	91	0.12005277044854881	c	0.048	-1.258655	0.01445	0.265093	0.106145	ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000454048	T;T;T	0.78595	-1.19;-1.19;-1.01	5.1	-7.9	0.01169	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.602385	0.16472	N	0.212932	T	0.00012	0.0000	N	0.20845	0.615	0.27582	P	0.9495508	B	0.13145	0.007	B	0.14023	0.01	T	0.12091	-1.0561	9	0.02654	T	1	-0.5439	16.7058	0.85371	0.0:0.3272:0.0:0.6728	rs1105273	361	Q8N465	D2HDH_HUMAN	V	361;227;62	ENSP00000315351:A361V;ENSP00000384723:A227V;ENSP00000404596:A62V	ENSP00000315351:A361V	A	+	2	0	D2HGDH	242339418	0.045000	0.20229	0.000000	0.03702	0.026000	0.11368	0.251000	0.18257	-1.680000	0.01450	-0.974000	0.02594	GCG	C|0.817;T|0.183	0.183	strong		0.617	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		T	242690745	C	T	242690745	3	4	23	1	0	0	0	0	1	0	0	0	4213	768	27	1	1108	1	D2HGDH	2	242690745	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	283157	242690745	508628	853	17309										
NEU4	129807	hgsc.bcm.edu	37	chr2	242757820	242757820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagttggtcagtgggccccGggagtcccctccagcctcca	12	16	1	0	rs11545301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr2:242757820G>A	ENST00000391969.2	+	5	1612	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	NEU4_ENST00000407683.1_Missense_Mutation_p.G301R|NEU4_ENST00000404257.1_Missense_Mutation_p.G313R|NEU4_ENST00000405370.1_Missense_Mutation_p.G301R|NEU4_ENST00000325935.6_Missense_Mutation_p.G314R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	301	Pro-rich.		G -> R (in dbSNP:rs11545301). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14962670, ECO:0000269|PubMed:15498874}.		ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGTGGGCCCCGGGAGTCCCCT	0.701													G|||	1213	0.242212	0.2988	0.2176	5008	,	,		13537	0.1002		0.2783	False		,,,				2504	0.2924				p.G314R		Atlas-SNP	.											.	NEU4	39	.	0			c.G940A						PASS	.		ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1158,3026		168,822,1102	9	12	11		940,901,901,901,937	-3.2	0	2	dbSNP_120	11	2335,5971		357,1621,2175	yes	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	125,125,125,125,125	525,2443,3277	AA,AG,GG		28.1122,27.6769,27.9664	benign,benign,benign,benign,benign	314/498,301/485,301/485,301/485,313/497	242757820	3493,8997	2092	4153	6245	SO:0001583	missense	129807	exon4			GGCCCCGGGAGTC	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.901G>A	2.37:g.242757820G>A	ENSP00000375830:p.Gly301Arg	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	101	50	0.49505	NM_001167599	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	531	0.24313186813186813	153	0.31097560975609756	92	0.2541436464088398	62	0.10839160839160839	224	0.2955145118733509	G	1.760	-0.486996	0.04352	0.276769	0.281122	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	T;T;T;T;T	0.75367	-0.92;-0.92;-0.93;-0.92;-0.93	3.37	-3.25	0.05079	Neuraminidase (1);	1.630680	0.03917	N	0.282864	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.03566	-1.1024	9	0.09084	T	0.74	-3.816	5.0178	0.14345	0.4482:0.0:0.4064:0.1453	rs11545301	313;313;301	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	R	301;301;311;313;301;314	ENSP00000385402:G301R;ENSP00000384804:G301R;ENSP00000385149:G313R;ENSP00000375830:G301R;ENSP00000320318:G314R	ENSP00000320318:G314R	G	+	1	0	NEU4	242406493	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.972000	0.03802	-0.372000	0.07992	-0.529000	0.04317	GGG	G|0.725;A|0.275	0.275	strong		0.701	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		A	242757820	G	A	242757820	3	1	23	1	0	0	0	0	1	0	0	0	10344	1116	39	1	954	1	NEU4	2	242757820	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	67075	242757820	441553	854	17310										
CNTN4	152330	hgsc.bcm.edu	37	chr3	3067850	3067850	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttggagagagtattgttttAccgtgccaggtaacgcatga					rs7629924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:3067850A>G	ENST00000397461.1	+	14	1935	c.1551A>G	c.(1549-1551)ttA>ttG	p.L517L	CNTN4_ENST00000397459.2_Silent_p.L189L|CNTN4_ENST00000418658.1_Silent_p.L517L|CNTN4_ENST00000358480.3_Silent_p.L298L|CNTN4_ENST00000427331.1_Silent_p.L517L|CNTN4_ENST00000448906.2_Silent_p.L189L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	517	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTATTGTTTTACCGTGCCAGG	0.423													G|||	773	0.154353	0.298	0.1484	5008	,	,		18564	0.1022		0.1034	False		,,,				2504	0.0706				p.L517L		Atlas-SNP	.											.	CNTN4	335	.	0			c.A1551G						PASS	.	G	,,,	1233,3173	705.6+/-407.3	173,887,1143	191	161	171		1551,567,1551,567	0.7	0.9	3	dbSNP_116	171	862,7738	780.0+/-407.7	36,790,3474	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	209,1677,4617	GG,GA,AA		10.0233,27.9846,16.108	,,,	517/1027,189/698,517/1027,189/699	3067850	2095,10911	2203	4300	6503	SO:0001819	synonymous_variant	152330	exon15			TGTTTTACCGTGC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1551A>G	3.37:g.3067850A>G		Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	186	93	0.5	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																			A|0.847;G|0.153	0.153	strong		0.423	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			G	3067850	A	G	3067850	2	3	23	1	0	0	0	0	0	0	0	1	3643	388	14	2		2	CNTN4	3	3067850	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10		3067850	194954580	855	17311	366	2								
CNTN4	152330	hgsc.bcm.edu	37	chr3	3067853	3067853	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagagagtattgttttaccGtgccaggtaacgcatgatca					rs7639977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:3067853G>A	ENST00000397461.1	+	14	1938	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P	CNTN4_ENST00000397459.2_Silent_p.P190P|CNTN4_ENST00000418658.1_Silent_p.P518P|CNTN4_ENST00000358480.3_Silent_p.P299P|CNTN4_ENST00000427331.1_Silent_p.P518P|CNTN4_ENST00000448906.2_Silent_p.P190P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	518	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGTTTTACCGTGCCAGGTAA	0.428													G|||	715	0.142772	0.2935	0.0951	5008	,	,		18555	0.0903		0.1034	False		,,,				2504	0.0675				p.P518P		Atlas-SNP	.											.	CNTN4	335	.	0			c.G1554A						PASS	.	G	,,,	1223,3183	424.0+/-340.3	169,885,1149	191	160	171		1554,570,1554,570	-10	0.8	3	dbSNP_116	171	855,7745	194.8+/-240.1	36,783,3481	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	205,1668,4630	AA,AG,GG		9.9419,27.7576,15.9772	,,,	518/1027,190/698,518/1027,190/699	3067853	2078,10928	2203	4300	6503	SO:0001819	synonymous_variant	152330	exon15			TTTACCGTGCCAG	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1554G>A	3.37:g.3067853G>A		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	191	93	0.486911	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																			G|0.858;A|0.142	0.142	strong		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	3067853	G	A	3067853	2	1	23	1	0	0	0	0	0	0	0	1	3643	1132	40	1		1	CNTN4	3	3067853	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3	3067853	194954577	856	17312	366	2								
LRRN1	57633	hgsc.bcm.edu	37	chr3	3886721	3886721	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggaggaaaatcagattacCgagatgactgattactgtct	10	6	2	4	rs3749350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:3886721C>A	ENST00000319331.3	+	2	1157	c.396C>A	c.(394-396)acC>acA	p.T132T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	132						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCAGATTACCGAGATGACTG	0.428													A|||	1458	0.291134	0.4047	0.2565	5008	,	,		20305	0.4067		0.1074	False		,,,				2504	0.2321				p.T132T		Atlas-SNP	.											.	LRRN1	82	.	0			c.C396A						PASS	.	A		1584,2822	658.8+/-400.5	301,982,920	70	73	72		396	-11.3	0	3	dbSNP_107	72	1090,7510	768.9+/-407.6	67,956,3277	no	coding-synonymous	LRRN1	NM_020873.5		368,1938,4197	AA,AC,CC		12.6744,35.951,20.5597		132/717	3886721	2674,10332	2203	4300	6503	SO:0001819	synonymous_variant	57633	exon2			GATTACCGAGATG	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.396C>A	3.37:g.3886721C>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	135	70	0.518519	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																			C|0.758;A|0.242	0.242	strong		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		A	3886721	C	A	3886721	2	1	23	1	0	0	0	0	0	0	0	1	9034	639	23	4		4	LRRN1	3	3886721	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	818868	3886721	194135709	857	17313										
LRRN1	57633	hgsc.bcm.edu	37	chr3	3886847	3886847	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatctattaaggctccacctGaactccaacaaattgaaagt	5	10	1	2	rs3749349	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:3886847G>C	ENST00000319331.3	+	2	1283	c.522G>C	c.(520-522)ctG>ctC	p.L174L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	174						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGCTCCACCTGAACTCCAACA	0.403													G|||	1070	0.213658	0.295	0.147	5008	,	,		18549	0.2679		0.1044	False		,,,				2504	0.2076				p.L174L		Atlas-SNP	.											.	LRRN1	82	.	0			c.G522C						PASS	.	G		1040,3366	371.0+/-319.8	118,804,1281	98	105	102		522	-4.1	1	3	dbSNP_107	102	1063,7537	223.1+/-260.0	63,937,3300	no	coding-synonymous	LRRN1	NM_020873.5		181,1741,4581	CC,CG,GG		12.3605,23.6042,16.1695		174/717	3886847	2103,10903	2203	4300	6503	SO:0001819	synonymous_variant	57633	exon2			CCACCTGAACTCC	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.522G>C	3.37:g.3886847G>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	96	41	0.427083	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																			G|0.820;C|0.180	0.180	strong		0.403	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		C	3886847	G	C	3886847	2	2	23	1	0	0	0	0	0	0	0	1	9034	1277	45	4		4	LRRN1	3	3886847	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	126	3886847	194135583	858	17314										
BHLHE40	8553	hgsc.bcm.edu	37	chr3	5024771	5024771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagctctccggccaaaggTtcggaaggtcctgggaaaaa	12	12	1	0	rs908078	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:5024771T>C	ENST00000256495.3	+	5	1236	c.633T>C	c.(631-633)ggT>ggC	p.G211G		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	211					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGGCCAAAGGTTCGGAAGGTC	0.592													C|||	791	0.157947	0.0855	0.2435	5008	,	,		17832	0.1915		0.1471	False		,,,				2504	0.1718				p.G211G		Atlas-SNP	.											.	BHLHE40	35	.	0			c.T633C						PASS	.	C		388,4018	786.8+/-414.8	15,358,1830	42	46	45		633	3.8	1	3	dbSNP_86	45	1334,7266	752.8+/-407.4	91,1152,3057	no	coding-synonymous	BHLHE40	NM_003670.2		106,1510,4887	CC,CT,TT		15.5116,8.8062,13.24		211/413	5024771	1722,11284	2203	4300	6503	SO:0001819	synonymous_variant	8553	exon5			CAAAGGTTCGGAA	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.633T>C	3.37:g.5024771T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	51	1	NM_003670	Q96TD3	Silent	SNP	ENST00000256495.3	37	CCDS2565.1																																																																																			T|0.855;C|0.145	0.145	strong		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		C	5024771	T	C	5024771	2	2	23	1	0	0	0	0	0	0	0	1	1423	1712	60	2		2	BHLHE40	3	5024771	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1137924	5024771	192997659	859	17315										
C3orf32	51066	hgsc.bcm.edu	37	chr3	8675447	8675447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccacaaagctgaggagggCttcccgggccacctcctccg	12	16	0	1	rs112366230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:8675447C>T	ENST00000317371.4	-	11	1403	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	SSUH2_ENST00000341795.3_Missense_Mutation_p.A60T|SSUH2_ENST00000415132.1_Missense_Mutation_p.A60T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A82T			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	60						cytoplasm (GO:0005737)											CTGAGGAGGGCTTCCCGGGCC	0.657													C|||	67	0.0133786	0.0424	0.0086	5008	,	,		13880	0.0		0.003	False		,,,				2504	0.002				p.A82T		Atlas-SNP	.											.	.	.	.	0			c.G244A						PASS	.	C	THR/ALA	156,4248		3,150,2049	27	30	29		178	5.1	1	3	dbSNP_132	29	73,8519		1,71,4224	yes	missense	C3orf32	NM_015931.1	58	4,221,6273	TT,TC,CC		0.8496,3.5422,1.7621	probably-damaging	60/354	8675447	229,12767	2202	4296	6498	SO:0001583	missense	51066	exon4			GGAGGGCTTCCCG	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.178G>A	3.37:g.8675447C>T	ENSP00000324551:p.Ala60Thr	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	182	96	0.527473	NM_001256748	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	CCDS2568.1	16	0.007326007326007326	13	0.026422764227642278	3	0.008287292817679558	0	0.0	0	0.0	C	21.1	4.092595	0.76756	0.035422	0.008496	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.54675	0.61;0.61;0.59;0.61;0.56	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	M	0.83953	2.67	0.46061	D	0.998843	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68416	-0.5414	10	0.72032	D	0.01	-39.6842	14.128	0.65235	0.0:1.0:0.0:0.0	.	82;60	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	60;60;60;82;82	ENSP00000339150:A60T;ENSP00000324551:A60T;ENSP00000410757:A60T;ENSP00000439378:A82T;ENSP00000401289:A82T	ENSP00000324551:A60T	A	-	1	0	C3orf32	8650447	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	4.952000	0.63618	2.407000	0.81776	0.484000	0.47621	GCC	C|0.986;T|0.014	0.014	strong		0.657	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		T	8675447	C	T	8675447	3	4	23	1	0	0	0	0	1	0	0	0	2222	797	28	2	919	2	C3orf32	3	8675447	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3650676	8675447	189346983	860	17316										
C3orf32	51066	hgsc.bcm.edu	37	chr3	8675539	8675539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagggcctgtggactcacgcGggccagccagcctcctcaac	12	16	2	0	rs2276800	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:8675539G>A	ENST00000317371.4	-	11	1311	c.86C>T	c.(85-87)cCg>cTg	p.P29L	SSUH2_ENST00000341795.3_Missense_Mutation_p.P29L|SSUH2_ENST00000415132.1_Missense_Mutation_p.P29L|SSUH2_ENST00000544814.1_Intron			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	29			P -> L (in dbSNP:rs2276800).			cytoplasm (GO:0005737)											GGACTCACGCGGGCCAGCCAG	0.657													A|||	1671	0.333666	0.6838	0.2651	5008	,	,		10609	0.1984		0.1829	False		,,,				2504	0.2035				p.P29L		Atlas-SNP	.											C3orf32,NS,carcinoma,0,2	.	.	2	0			c.C86T						PASS	.	A	LEU/PRO	2615,1791	503.9+/-365.7	793,1029,381	27	30	29		86	-4	0	3	dbSNP_100	29	1528,7072	728.5+/-406.7	120,1288,2892	yes	missense	C3orf32	NM_015931.1	98	913,2317,3273	AA,AG,GG		17.7674,40.6491,31.8545	probably-damaging	29/354	8675539	4143,8863	2203	4300	6503	SO:0001583	missense	51066	exon4			TCACGCGGGCCAG	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.86C>T	3.37:g.8675539G>A	ENSP00000324551:p.Pro29Leu	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	127	61	0.480315	NM_015931	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	CCDS2568.1	636	0.29120879120879123	323	0.6565040650406504	89	0.24585635359116023	86	0.15034965034965034	138	0.1820580474934037	A	6.834	0.522996	0.13066	0.593509	0.177674	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132	T;T;T	0.51817	0.74;0.74;0.69	3.97	-4.02	0.04034	.	0.656465	0.14884	N	0.292819	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.07813	T	0.8	0.3753	6.2471	0.20825	0.3373:0.0:0.5156:0.147	rs2276800;rs57482921;rs2276800	29	Q9Y2M2	CC032_HUMAN	L	29	ENSP00000339150:P29L;ENSP00000324551:P29L;ENSP00000410757:P29L	ENSP00000324551:P29L	P	-	2	0	C3orf32	8650539	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.643000	0.05421	-1.368000	0.02149	-0.893000	0.02921	CCG	G|0.689;A|0.311	0.311	strong		0.657	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		A	8675539	G	A	8675539	3	1	23	1	0	0	0	0	1	0	0	0	2222	1116	39	1	1011	1	C3orf32	3	8675539	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	92	8675539	189346891	861	17317										
OXTR	5021	hgsc.bcm.edu	37	chr3	8809184	8809184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcggtcttgagccgcaaGttctgccagatcttgaagct	12	11	3	3	rs237902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:8809184G>A	ENST00000316793.3	-	3	1314	c.690C>T	c.(688-690)aaC>aaT	p.N230N	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	230					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TGAGCCGCAAGTTCTGCCAGA	0.667													G|||	1240	0.247604	0.3124	0.2305	5008	,	,		14583	0.0546		0.327	False		,,,				2504	0.2894				p.N230N		Atlas-SNP	.											OXTR,NS,carcinoma,0,1	OXTR	31	1	0			c.C690T						PASS	.	G		1325,3073		208,909,1082	21	20	21		690	-1.7	0	3	dbSNP_79	21	2954,5642		522,1910,1866	no	coding-synonymous	OXTR	NM_000916.3		730,2819,2948	AA,AG,GG		34.3648,30.1273,32.9306		230/390	8809184	4279,8715	2199	4298	6497	SO:0001819	synonymous_variant	5021	exon3			CCGCAAGTTCTGC		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.690C>T	3.37:g.8809184G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	100	70	0.7	NM_000916	Q15071	Silent	SNP	ENST00000316793.3	37	CCDS2570.1																																																																																			G|0.714;A|0.286	0.286	strong		0.667	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			A	8809184	G	A	8809184	2	1	23	1	0	0	0	0	0	0	0	1	11338	1020	36	2		2	OXTR	3	8809184	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133645	8809184	189213246	862	17318										
MTMR14	64419	hgsc.bcm.edu	37	chr3	9711141	9711141	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagatgatgcctgggcagaTgtggaggacgtcacggagga	18	7	1	3	rs189614064	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:9711141T>A	ENST00000296003.4	+	5	641	c.519T>A	c.(517-519)gaT>gaA	p.D173E	MTMR14_ENST00000353332.5_Missense_Mutation_p.D173E|MTMR14_ENST00000351233.5_Missense_Mutation_p.D173E|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	173					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCTGGGCAGATGTGGAGGACG	0.622													T|||	5	0.000998403	0.0	0.0029	5008	,	,		18559	0.001		0.002	False		,,,				2504	0.0				p.D173E		Atlas-SNP	.											.	MTMR14	43	.	0			c.T519A						PASS	.	T	GLU/ASP,GLU/ASP,GLU/ASP	1,4271		0,1,2135	174	193	187		519,519,519	3.1	0.3	3		187	32,8458		0,32,4213	yes	missense,missense,missense	MTMR14	NM_001077525.2,NM_001077526.2,NM_022485.4	45,45,45	0,33,6348	AA,AT,TT		0.3769,0.0234,0.2586	benign,benign,benign	173/651,173/599,173/539	9711141	33,12729	2136	4245	6381	SO:0001583	missense	64419	exon5			GGCAGATGTGGAG	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.519T>A	3.37:g.9711141T>A	ENSP00000296003:p.Asp173Glu	Somatic	345	1	0.00289855		WXS	Illumina HiSeq	Phase_I	310	138	0.445161	NM_022485	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	CCDS43043.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	T	10.12	1.263495	0.23136	2.34E-4	0.003769	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	.	.	.	5.55	3.13	0.36017	.	0.345887	0.36665	N	0.002468	T	0.22781	0.0550	N	0.17674	0.51	0.29607	N	0.847221	B;B;B	0.20459	0.001;0.045;0.001	B;B;B	0.20384	0.003;0.029;0.001	T	0.17992	-1.0351	9	0.17832	T	0.49	-0.2856	5.6671	0.17700	0.0:0.146:0.1443:0.7097	.	173;173;173	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	E	173	.	ENSP00000296003:D173E	D	+	3	2	MTMR14	9686141	0.032000	0.19561	0.348000	0.25681	0.994000	0.84299	0.094000	0.15107	0.386000	0.24997	-0.323000	0.08544	GAT	T|0.998;A|0.002	0.002	strong		0.622	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		A	9711141	T	A	9711141	3	1	23	1	0	0	0	0	1	0	0	0	9942	1461	51	5	537	5	MTMR14	3	9711141	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	901957	9711141	188311289	863	17319										
TTLL3	26140	hgsc.bcm.edu	37	chr3	9876987	9876987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgttggtacattccagagGcgcaggggcctgggggatat	16	8	0	1	rs1057281	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:9876987G>A	ENST00000547186.1	+	13	2349	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.R854R	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	711					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CATTCCAGAGGCGCAGGGGCC	0.557													G|||	596	0.11901	0.211	0.1009	5008	,	,		18562	0.0565		0.1183	False		,,,				2504	0.0726				p.R854R		Atlas-SNP	.											.	TTLL3	51	.	0			c.G2562A						PASS	.	G	,	719,3011		59,601,1205	53	58	56		2562,	-3.6	0	3	dbSNP_86	56	1277,6927		107,1063,2932	no	coding-synonymous,utr-3	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	,	166,1664,4137	AA,AG,GG		15.5656,19.2761,16.7253	,	854/916,	9876987	1996,9938	1865	4102	5967	SO:0001819	synonymous_variant	26140	exon13			CCAGAGGCGCAGG		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2133G>A	3.37:g.9876987G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_001025930	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37																																																																																				G|0.873;A|0.127	0.127	strong		0.557	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		A	9876987	G	A	9876987	2	1	23	1	0	0	0	0	0	0	0	1	16725	1194	42	2		2	TTLL3	3	9876987	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	165846	9876987	188145443	864	17320										
IL17RE	132014	hgsc.bcm.edu	37	chr3	9952706	9952706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagacctcccgaatgccacAgctcgagagtcagatggggt	12	11	1	3	rs279572	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:9952706A>G	ENST00000383814.3	+	9	1065	c.960A>G	c.(958-960)acA>acG	p.T320T	IL17RE_ENST00000421412.1_Silent_p.T353T|IL17RE_ENST00000295980.3_Silent_p.T320T|IL17RE_ENST00000454190.2_Silent_p.T320T	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	320					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CGAATGCCACAGCTCGAGAGT	0.617													G|||	2138	0.426917	0.6384	0.4683	5008	,	,		17881	0.0942		0.5527	False		,,,				2504	0.3252				p.T360T		Atlas-SNP	.											.	IL17RE	62	.	0			c.A1080G						PASS	.	G	,,	2733,1673	509.6+/-367.3	863,1007,333	59	60	59		960,960,1080	-6.6	0.3	3	dbSNP_79	59	4624,3976	552.1+/-386.1	1229,2166,905	no	coding-synonymous,coding-synonymous,coding-synonymous	IL17RE	NM_001193380.1,NM_153480.1,NM_153483.2	,,	2092,3173,1238	GG,GA,AA		46.2326,37.9709,43.4338	,,	320/534,320/668,360/708	9952706	7357,5649	2203	4300	6503	SO:0001819	synonymous_variant	132014	exon10			TGCCACAGCTCGA	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.960A>G	3.37:g.9952706A>G		Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	99	98	0.989899	NM_153483	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	CCDS2589.1																																																																																			A|0.492;G|0.508	0.508	strong		0.617	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		G	9952706	A	G	9952706	2	3	23	1	0	0	0	0	0	0	0	1	7643	175	7	3		3	IL17RE	3	9952706	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	75719	9952706	188069724	865	17321										
CRELD1	78987	hgsc.bcm.edu	37	chr3	9985096	9985096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgagacagaggtgtgtccGggagagaacaagcagtgtga	17	5	0	4	rs76764016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:9985096G>A	ENST00000383811.3	+	9	1544	c.945G>A	c.(943-945)ccG>ccA	p.P315P	CRELD1_ENST00000397170.3_Silent_p.P315P|CRELD1_ENST00000326434.5_Silent_p.P315P|CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000452070.1_Silent_p.P315P	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	315	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGGTGTGTCCGGGAGAGAACA	0.582													G|||	18	0.00359425	0.0008	0.0029	5008	,	,		19869	0.001		0.0129	False		,,,				2504	0.001				p.P315P		Atlas-SNP	.											.	CRELD1	48	.	0			c.G945A						PASS	.	G	,,	16,4390	23.3+/-48.9	0,16,2187	119	116	117		945,945,945	-6.8	1	3	dbSNP_132	117	150,8450	72.6+/-135.2	3,144,4153	no	coding-synonymous,coding-synonymous,coding-synonymous	CRELD1	NM_001031717.3,NM_001077415.2,NM_015513.4	,,	3,160,6340	AA,AG,GG		1.7442,0.3631,1.2763	,,	315/423,315/421,315/421	9985096	166,12840	2203	4300	6503	SO:0001819	synonymous_variant	78987	exon10			GTGTCCGGGAGAG	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.945G>A	3.37:g.9985096G>A		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	229	110	0.480349	NM_001077415	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	CCDS2593.1																																																																																			G|0.991;A|0.009	0.009	strong		0.582	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		A	9985096	G	A	9985096	2	1	23	1	0	0	0	0	0	0	0	1	3866	1103	39	1		1	CRELD1	3	9985096	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32390	9985096	188037334	866	17322										
TMEM111	55831	hgsc.bcm.edu	37	chr3	10028294	10028294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgatgataacgatgggtaGgaccacccagaggcggatgt	15	7	0	3	rs11551739	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:10028294G>A	ENST00000245046.2	-	1	510	c.52C>T	c.(52-54)Cta>Tta	p.L18L	AC034193.5_ENST00000326237.3_RNA|EMC3_ENST00000429759.1_Silent_p.L18L	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	18						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ACGATGGGTAGGACCACCCAG	0.537													G|||	182	0.0363419	0.0053	0.0476	5008	,	,		19680	0.0		0.1163	False		,,,				2504	0.0256				p.L18L		Atlas-SNP	.											.	EMC3	2	.	0			c.C52T						PASS	.	G		49,4357		1,47,2155	143	118	127		52	4.8	1	3	dbSNP_120	127	756,7844		33,690,3577	no	coding-synonymous	TMEM111	NM_018447.2		34,737,5732	AA,AG,GG		8.7907,1.1121,6.1895		18/262	10028294	805,12201	2203	4300	6503	SO:0001819	synonymous_variant	55831	exon1			TGGGTAGGACCAC	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.52C>T	3.37:g.10028294G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	138	63	0.456522	NM_018447	B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	ENST00000245046.2	37	CCDS2594.1																																																																																			G|0.941;A|0.059	0.059	strong		0.537	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		A	10028294	G	A	10028294	2	1	23	1	0	0	0	0	0	0	0	1	16025	991	35	2		2	TMEM111	3	10028294	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43198	10028294	187994136	867	17323										
GHRL	51738	hgsc.bcm.edu	37	chr3	10328453	10328453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggctgtgctgctggtacTgaacccctgacagcttgatt	11	12	0	3	rs4684677	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:10328453T>A	ENST00000335542.8	-	5	1139	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000476283.1_5'UTR|GHRL_ENST00000422159.1_Intron|LINC00852_ENST00000475197.1_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.Q90L|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000437422.2_Missense_Mutation_p.Q78L|GHRL_ENST00000430179.1_Missense_Mutation_p.Q89L|GHRL_ENST00000439975.2_Missense_Mutation_p.Q39L|GHRL_ENST00000446937.2_Intron|LINC00852_ENST00000538717.1_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.Q89L|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000457360.1_Missense_Mutation_p.Q90L|GHRL_ENST00000449238.2_Missense_Mutation_p.Q77L|GHRL_ENST00000450603.1_Missense_Mutation_p.Q90L|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000287656.7_Missense_Mutation_p.Q89L			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	90			Q -> L (in dbSNP:rs4684677).		actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTGCTGGTACTGAACCCCTGA	0.582											OREG0015386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	307	0.0613019	0.0053	0.2392	5008	,	,		19509	0.006		0.0746	False		,,,				2504	0.0542				p.Q90L		Atlas-SNP	.											.	GHRL	8	.	0			c.A269T	GRCh37	CM024761	GHRL	M	rs4684677	PASS	.	T	LEU/GLN,LEU/GLN,LEU/GLN,LEU/GLN,LEU/GLN	63,4343	60.5+/-97.4	0,63,2140	72	59	63	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	266,233,230,116,269	4.8	1	3	dbSNP_111	63	507,8093	143.6+/-199.6	14,479,3807	yes	missense,missense,missense,missense,missense	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	113,113,113,113,113	14,542,5947	AA,AT,TT		5.8953,1.4299,4.3826	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	89/117,78/106,77/105,39/67,90/118	10328453	570,12436	2203	4300	6503	SO:0001583	missense	51738	exon4			TGGTACTGAACCC	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.269A>T	3.37:g.10328453T>A	ENSP00000335074:p.Gln90Leu	Somatic	146	0	0	663	WXS	Illumina HiSeq	Phase_I	109	54	0.495413	NM_016362	A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	ENST00000335542.8	37	CCDS33700.1	143	0.06547619047619048	4	0.008130081300813009	73	0.20165745856353592	5	0.008741258741258742	61	0.08047493403693931	T	18.90	3.720946	0.68959	0.014299	0.058953	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000449238;ENST00000437422;ENST00000287656;ENST00000457360;ENST00000439975;ENST00000429122	T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.76	4.76	0.60689	Motilin/ghrelin-associated peptide (1);	0.115879	0.39210	N	0.001439	T	0.00144	0.0004	M	0.67953	2.075	0.30139	P	0.80414	D;D;D;D;D	0.76494	0.989;0.996;0.997;0.996;0.999	D;D;D;D;D	0.80764	0.985;0.99;0.994;0.99;0.994	T	0.09930	-1.0652	9	0.51188	T	0.08	-19.1235	10.5811	0.45257	0.0:0.0:0.0:1.0	rs4684677;rs17847133;rs52799511;rs4684677	77;78;90;89;39	Q9UBU3-4;Q9UBU3-3;Q9UBU3;Q9UBU3-2;Q9UBU3-5	.;.;GHRL_HUMAN;.;.	L	90;89;90;89;77;78;89;90;39;90	ENSP00000335074:Q90L;ENSP00000399922:Q89L;ENSP00000389192:Q90L;ENSP00000415521:Q89L;ENSP00000388145:Q77L;ENSP00000416768:Q78L;ENSP00000287656:Q89L;ENSP00000391406:Q90L;ENSP00000403725:Q39L;ENSP00000414819:Q90L	ENSP00000287656:Q89L	Q	-	2	0	GHRL	10303453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.169000	0.58223	1.992000	0.58205	0.533000	0.62120	CAG	T|0.950;A|0.050	0.050	strong		0.582	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		A	10328453	T	A	10328453	3	1	23	1	0	0	0	0	1	0	0	0	6374	1580	55	5	92	5	GHRL	3	10328453	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	300159	10328453	187693977	868	17324										
SLC6A11	6538	hgsc.bcm.edu	37	chr3	10885920	10885920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccgggtcctggccatctcTgacgggatcgagcacatcgg	13	14	1	1	rs2304725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:10885920T>C	ENST00000254488.2	+	5	711	c.645T>C	c.(643-645)tcT>tcC	p.S215S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	215					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGGCCATCTCTGACGGGATCG	0.597													t|||	1874	0.374201	0.3011	0.2161	5008	,	,		19545	0.4276		0.325	False		,,,				2504	0.5808				p.S215S		Atlas-SNP	.											SLC6A11,NS,adenoma,0,1	SLC6A11	87	1	0			c.T645C						scavenged	.	T		1369,3037	453.8+/-350.4	214,941,1048	100	86	91		645	-11.5	0	3	dbSNP_100	91	2893,5707	454.0+/-363.4	495,1903,1902	yes	coding-synonymous	SLC6A11	NM_014229.1		709,2844,2950	CC,CT,TT		33.6395,31.0713,32.7695		215/633	10885920	4262,8744	2203	4300	6503	SO:0001819	synonymous_variant	6538	exon5			CATCTCTGACGGG	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.645T>C	3.37:g.10885920T>C		Somatic	177	2	0.0112994		WXS	Illumina HiSeq	Phase_I	173	172	0.99422	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																			T|0.655;C|0.345	0.345	strong		0.597	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		C	10885920	T	C	10885920	2	2	23	1	0	0	0	0	0	0	0	1	14674	1567	55	3		3	SLC6A11	3	10885920	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	557467	10885920	187136510	869	17325										
C3orf31	132001	hgsc.bcm.edu	37	chr3	11887993	11887993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccttctggtctgaactcgGccctgcctggcggtacaccc	10	17	2	1	rs144232229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:11887993G>A	ENST00000444133.2	-	1	260	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	TAMM41_ENST00000273037.5_Missense_Mutation_p.P40S|TAMM41_ENST00000455809.1_Missense_Mutation_p.P40S			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	40					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TCTGAACTCGGCCCTGCCTGG	0.627													G|||	48	0.00958466	0.0008	0.0115	5008	,	,		17354	0.001		0.0239	False		,,,				2504	0.0143				p.P40S		Atlas-SNP	.											.	.	.	.	0			c.C118T						PASS	.						64	63	64					3																	11887993		2203	4300	6503	SO:0001583	missense	132001	exon1			AACTCGGCCCTGC		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"chromosome 3 open reading frame 31"	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.118C>T	3.37:g.11887993G>A	ENSP00000388598:p.Pro40Ser	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	148	65	0.439189	NM_138807	B4DIY7|C9J2U4	Missense_Mutation	SNP	ENST00000444133.2	37		23	0.010531135531135532	0	0.0	4	0.011049723756906077	1	0.0017482517482517483	18	0.023746701846965697	G	10.06	1.245903	0.22796	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.27104	1.69;1.69;1.69	4.71	4.71	0.59529	.	0.256821	0.39274	N	0.001418	T	0.07188	0.0182	N	0.16266	0.395	0.31193	N	0.700731	B;B;B	0.28584	0.216;0.016;0.207	B;B;B	0.29353	0.042;0.013;0.101	T	0.06445	-1.0826	10	0.08837	T	0.75	-16.0459	13.039	0.58889	0.0:0.0:1.0:0.0	.	40;40;40	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	S	40	ENSP00000398596:P40S;ENSP00000273037:P40S;ENSP00000388598:P40S	ENSP00000273037:P40S	P	-	1	0	TAMM41	11862993	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	1.028000	0.30128	2.445000	0.82738	0.467000	0.42956	CCG	G|0.984;A|0.016	0.016	strong		0.627	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		A	11887993	G	A	11887993	3	1	23	1	0	0	0	0	1	0	0	0	2221	1203	42	2	860	2	C3orf31	3	11887993	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1002073	11887993	186134437	870	17326										
NUP210	23225	hgsc.bcm.edu	37	chr3	13368892	13368892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgctgactgtgcggacaacGcaggtgttgttggtggggcc	17	9	0	1	rs2271509	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:13368892G>A	ENST00000254508.5	-	32	4414	c.4332C>T	c.(4330-4332)tgC>tgT	p.C1444C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1444					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCGGACAACGCAGGTGTTGT	0.612													G|||	1985	0.396366	0.4592	0.3775	5008	,	,		19707	0.3016		0.4891	False		,,,				2504	0.3272				p.C1444C		Atlas-SNP	.											NUP210,NS,carcinoma,0,2	NUP210	182	2	0			c.C4332T						PASS	.	G		2074,2332	564.7+/-381.5	474,1126,603	53	41	45		4332	1.7	0.1	3	dbSNP_100	45	4402,4198	577.9+/-390.6	1134,2134,1032	no	coding-synonymous	NUP210	NM_024923.2		1608,3260,1635	AA,AG,GG		48.814,47.0722,49.7924		1444/1888	13368892	6476,6530	2203	4300	6503	SO:0001819	synonymous_variant	23225	exon32			GACAACGCAGGTG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4332C>T	3.37:g.13368892G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	147	146	0.993197	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			G|0.541;A|0.459	0.459	strong		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13368892	G	A	13368892	2	1	23	1	0	0	0	0	0	0	0	1	10760	1079	38	1		1	NUP210	3	13368892	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1480899	13368892	184653538	871	17327										
NUP210	23225	hgsc.bcm.edu	37	chr3	13395475	13395475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctgcatgggcagctcagGctcgatgctggccaacactg	13	13	1	0	rs2280085	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:13395475G>C	ENST00000254508.5	-	17	2543	c.2461C>G	c.(2461-2463)Cct>Gct	p.P821A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	821			P -> A (in dbSNP:rs2280085).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCAGCTCAGGCTCGATGCTG	0.622													G|||	1044	0.208466	0.2126	0.1729	5008	,	,		19709	0.2897		0.165	False		,,,				2504	0.1892				p.P821A		Atlas-SNP	.											.	NUP210	182	.	0			c.C2461G						PASS	.	G	ALA/PRO	929,3477	333.6+/-303.0	108,713,1382	31	26	27		2461	2.3	0	3	dbSNP_100	27	1423,7175	252.6+/-278.6	121,1181,2997	yes	missense	NUP210	NM_024923.2	27	229,1894,4379	CC,CG,GG		16.5504,21.0849,18.0867	benign	821/1888	13395475	2352,10652	2203	4299	6502	SO:0001583	missense	23225	exon17			GCTCAGGCTCGAT	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2461C>G	3.37:g.13395475G>C	ENSP00000254508:p.Pro821Ala	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	226	104	0.460177	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	454	0.2078754578754579	84	0.17073170731707318	59	0.16298342541436464	185	0.32342657342657344	126	0.1662269129287599	G	0.017	-1.499222	0.01001	0.210849	0.165504	ENSG00000132182	ENST00000254508	T	0.49432	0.78	5.23	2.31	0.28768	.	0.560572	0.18343	N	0.144138	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.039	T	0.33650	-0.9860	9	0.09338	T	0.73	0.0042	4.1682	0.10317	0.1349:0.3424:0.4056:0.1171	rs2280085;rs2280085	821;821	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	A	821	ENSP00000254508:P821A	ENSP00000254508:P821A	P	-	1	0	NUP210	13370475	0.400000	0.25295	0.002000	0.10522	0.072000	0.16883	2.121000	0.41977	0.247000	0.21414	0.563000	0.77884	CCT	G|0.807;C|0.193	0.193	strong		0.622	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		C	13395475	G	C	13395475	3	2	23	1	0	0	0	0	1	0	0	0	10760	1203	42	4	3298	4	NUP210	3	13395475	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26583	13395475	184626955	872	17328										
NUP210	23225	hgsc.bcm.edu	37	chr3	13399786	13399786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggctggtgtagacaggcGcgagggtgagcctggacggt	22	7	0	2	rs6795271	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:13399786G>A	ENST00000254508.5	-	16	2346	c.2264C>T	c.(2263-2265)gCg>gTg	p.A755V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	755			A -> V (in dbSNP:rs6795271).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTAGACAGGCGCGAGGGTGAG	0.652													G|||	908	0.18131	0.2269	0.2104	5008	,	,		19901	0.0139		0.325	False		,,,				2504	0.1237				p.A755V		Atlas-SNP	.											.	NUP210	182	.	0			c.C2264T						PASS	.	G	VAL/ALA	1061,3345	386.8+/-326.2	130,801,1272	84	83	83		2264	-1.6	0	3	dbSNP_116	83	2973,5627	462.0+/-365.6	512,1949,1839	yes	missense	NUP210	NM_024923.2	64	642,2750,3111	AA,AG,GG		34.5698,24.0808,31.0165	benign	755/1888	13399786	4034,8972	2203	4300	6503	SO:0001583	missense	23225	exon16			ACAGGCGCGAGGG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2264C>T	3.37:g.13399786G>A	ENSP00000254508:p.Ala755Val	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	178	81	0.455056	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	458	0.2097069597069597	118	0.23983739837398374	93	0.2569060773480663	10	0.017482517482517484	237	0.31266490765171506	G	2.929	-0.221390	0.06061	0.240808	0.345698	ENSG00000132182	ENST00000254508	T	0.16597	2.33	5.05	-1.59	0.08453	.	0.621103	0.17582	N	0.169078	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.42832	-0.9428	9	0.02654	T	1	.	10.2615	0.43430	0.5834:0.0:0.4166:0.0	rs6795271;rs57991742;rs6795271	755;755	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	V	755	ENSP00000254508:A755V	ENSP00000254508:A755V	A	-	2	0	NUP210	13374786	0.505000	0.26131	0.011000	0.14972	0.064000	0.16182	1.087000	0.30865	-0.784000	0.04528	0.609000	0.83330	GCG	G|0.734;A|0.266	0.266	strong		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13399786	G	A	13399786	3	1	23	1	0	0	0	0	1	0	0	0	10760	1087	38	1	3499	1	NUP210	3	13399786	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4311	13399786	184622644	873	17329										
GALNTL2	117248	hgsc.bcm.edu	37	chr3	16268974	16268974	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcccgccagcagtggcgTtttgaccagatcaatgctgt	11	11	1	2	rs15767	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:16268974T>A	ENST00000339732.5	+	10	2390	c.1887T>A	c.(1885-1887)cgT>cgA	p.R629R	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	629	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGCAGTGGCGTTTTGACCAGA	0.443													A|||	1808	0.361022	0.5287	0.3876	5008	,	,		18046	0.2034		0.3887	False		,,,				2504	0.2495				p.R629R		Atlas-SNP	.											GALNTL2,colon,carcinoma,0,4	.	.	4	0			c.T1887A						PASS	.	A		2148,2258	596.7+/-388.7	516,1116,571	125	123	123		1887	-2.8	0.5	3	dbSNP_52	123	3240,5360	650.3+/-400.7	610,2020,1670	no	coding-synonymous	GALNTL2	NM_054110.4		1126,3136,2241	AA,AT,TT		37.6744,48.7517,41.427		629/640	16268974	5388,7618	2203	4300	6503	SO:0001819	synonymous_variant	117248	exon10			GTGGCGTTTTGAC	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1887T>A	3.37:g.16268974T>A		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	114	114	1	NM_054110	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	CCDS33711.1	850	0.3891941391941392	277	0.5630081300813008	157	0.43370165745856354	129	0.22552447552447552	287	0.3786279683377309	A	2.572	-0.299389	0.05532	0.487517	0.376744	ENSG00000131386	ENST00000543679	.	.	.	5.4	-2.78	0.05859	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.19575	P	0.9999670301	.	.	.	.	.	.	T	0.44802	-0.9304	4	0.37606	T	0.19	.	7.3671	0.26779	0.413:0.0:0.4636:0.1233	rs15767;rs712871;rs1394909;rs3188637;rs17356739;rs15767	.	.	.	D	159	.	ENSP00000445852:V159D	V	+	2	0	GALNTL2	16243978	0.001000	0.12720	0.540000	0.28089	0.098000	0.18820	-0.374000	0.07484	-0.719000	0.04942	-0.257000	0.10917	GTT	T|0.600;A|0.400	0.400	strong		0.443	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		A	16268974	T	A	16268974	2	1	23	1	0	0	0	0	0	0	0	1	6222	1712	60	5		5	GALNTL2	3	16268974	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2869188	16268974	181753456	874	17330										
OXNAD1	92106	hgsc.bcm.edu	37	chr3	16336381	16336381	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggttgatttctttattccAggagtctctgtggttggtgg	14	5	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:16336381A>G	ENST00000285083.5	+	6	774	c.309A>G	c.(307-309)ccA>ccG	p.P103P	OXNAD1_ENST00000435829.2_Silent_p.P121P|OXNAD1_ENST00000605932.1_Silent_p.P103P|OXNAD1_ENST00000606098.1_Silent_p.P103P|OXNAD1_ENST00000544043.1_Silent_p.P121P	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	103	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TCTTTATTCCAGGAGTCTCTG	0.363																																					p.P103P		Atlas-SNP	.											.	OXNAD1	31	.	0			c.A309G						PASS	.						140	143	142					3																	16336381		2203	4300	6503	SO:0001819	synonymous_variant	92106	exon6			TATTCCAGGAGTC	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.309A>G	3.37:g.16336381A>G		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	214	94	0.439252	NM_138381	Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	CCDS2630.1																																																																																			.	.	none		0.363	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		G	16336381	A	G	16336381	2	3	23	1	0	0	0	0	0	0	0	1	11333	175	7	3		3	OXNAD1	3	16336381	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	67407	16336381	181686049	875	17331										
RFTN1	23180	hgsc.bcm.edu	37	chr3	16419238	16419238	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacttactccctgagagtggCtcttcatgcacctccaaggg	9	13	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:16419238C>G	ENST00000334133.4	-	5	1085	c.813G>C	c.(811-813)gaG>gaC	p.E271D	RFTN1_ENST00000432519.1_Missense_Mutation_p.E235D	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	271					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGAGAGTGGCTCTTCATGCA	0.512																																					p.E271D		Atlas-SNP	.											.	RFTN1	79	.	0			c.G813C						PASS	.						64	68	67					3																	16419238		2203	4300	6503	SO:0001583	missense	23180	exon5			GAGTGGCTCTTCA	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.813G>C	3.37:g.16419238C>G	ENSP00000334153:p.Glu271Asp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	135	37	0.274074	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443891	0.43429	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49139	1.5;1.5;0.79	4.67	-0.787	0.10943	.	0.907323	0.09628	N	0.776624	T	0.33527	0.0866	L	0.36672	1.1	0.21290	N	0.999731	B;B	0.18461	0.028;0.028	B;B	0.16722	0.016;0.016	T	0.27971	-1.0058	10	0.44086	T	0.13	-34.4945	5.6878	0.17813	0.0:0.4135:0.1371:0.4494	.	235;271	G3XAJ6;Q14699	.;RFTN1_HUMAN	D	235;271;271	ENSP00000403926:E235D;ENSP00000334153:E271D;ENSP00000403997:E271D	ENSP00000334153:E271D	E	-	3	2	RFTN1	16394242	0.002000	0.14202	0.103000	0.21229	0.791000	0.44710	-0.043000	0.12043	-0.073000	0.12842	0.561000	0.74099	GAG	.	.	none		0.512	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		G	16419238	C	G	16419238	3	3	23	1	0	0	0	0	1	0	0	0	13258	796	28	4	947	4	RFTN1	3	16419238	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	82857	16419238	181603192	876	17332										
PLCL2	23228	hgsc.bcm.edu	37	chr3	17053613	17053613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtattcaagaatgcccagccCcctatacgggatgccacaga	9	13	1	2	rs61751588	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:17053613C>T	ENST00000418129.2	+	2	2862	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	PLCL2_ENST00000432376.1_Silent_p.P799P|PLCL2_ENST00000396755.2_Silent_p.P799P	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	925	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGCCCAGCCCCCTATACGGG	0.438													C|||	34	0.00678914	0.0008	0.0043	5008	,	,		17519	0.0		0.0258	False		,,,				2504	0.0041				p.P799P		Atlas-SNP	.											.	PLCL2	145	.	0			c.C2397T						PASS	.	C	,	19,4387	24.3+/-50.5	1,17,2185	60	65	64		2779,2397	-0.4	1	3	dbSNP_129	64	175,8423	75.1+/-137.7	3,169,4127	yes	coding-synonymous,coding-synonymous	PLCL2	NM_001144382.1,NM_015184.5	,	4,186,6312	TT,TC,CC		2.0354,0.4312,1.4918	,	925/1128,799/1002	17053613	194,12810	2203	4299	6502	SO:0001819	synonymous_variant	23228	exon2			CCAGCCCCCTATA	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2397C>T	3.37:g.17053613C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	51	22	0.431373	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	CCDS33713.1	23	0.010531135531135532	0	0.0	2	0.0055248618784530384	0	0.0	21	0.027704485488126648	C	9.281	1.048206	0.19827	0.004312	0.020354	ENSG00000154822	ENST00000419842	T	0.20069	2.1	5.53	-0.419	0.12340	.	0.164246	0.53938	D	0.000054	T	0.04407	0.0121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12142	-1.0559	7	0.10636	T	0.68	.	9.1754	0.37109	0.4233:0.203:0.3736:0.0	rs61751588	.	.	.	L	543	ENSP00000404433:P543L	ENSP00000404433:P543L	P	+	2	0	PLCL2	17028617	0.893000	0.30496	0.989000	0.46669	0.984000	0.73092	-0.009000	0.12765	0.255000	0.21593	0.491000	0.48974	CCC	C|0.987;T|0.013	0.013	strong		0.438	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			T	17053613	C	T	17053613	2	4	23	1	0	0	0	0	0	0	0	1	12040	610	22	2		2	PLCL2	3	17053613	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	634375	17053613	180968817	877	17333										
RARB	5915	hgsc.bcm.edu	37	chr3	25635200	25635200	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctgcttaatctgtggaggTaccaactatgtagaaaagcc	9	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:25635200T>C	ENST00000404969.1	+	6	1012		c.e6+2		RARB_ENST00000437042.2_Splice_Site|RARB_ENST00000458646.1_Splice_Site|RARB_ENST00000330688.4_Splice_Site|RARB_ENST00000462272.1_Splice_Site			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCTGTGGAGGTACCAACTATG	0.408																																					.		Atlas-SNP	.											RARB_ENST00000404969,NS,carcinoma,+2,2	RARB	123	2	0			c.655+2T>C						scavenged	.						83	80	81					3																	25635200		2203	4300	6503	SO:0001630	splice_region_variant	5915	exon6			TGGAGGTACCAAC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1012+2T>C	3.37:g.25635200T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_016152	P12891|Q00989|Q15298|Q9UN48	Splice_Site	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.417098	0.83449	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3885	0.83524	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RARB	25610204	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.017000	0.88712	2.274000	0.75844	0.529000	0.55759	.	.	.	none		0.408	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	Intron	C	25635200	T	C	25635200	5	2	23	1	0	0	0	0	0	0	1	0	13053	1652	57	2	1015	2	RARB	3	25635200	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8581587	25635200	172387230	878	17334										
RBMS3	27303	hgsc.bcm.edu	37	chr3	30032626	30032626	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaccttcatcccaggacacCagtggtcagcagcaacagat	9	14	2	1	rs114278295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:30032626C>G	ENST00000383767.2	+	14	1569	c.1233C>G	c.(1231-1233)acC>acG	p.T411T	RBMS3_ENST00000456853.1_Silent_p.T408T|RBMS3_ENST00000273139.9_Silent_p.T395T|RBMS3_ENST00000383766.2_Silent_p.T393T|RBMS3_ENST00000396583.3_Silent_p.T408T|RBMS3_ENST00000434693.2_Silent_p.T410T|RBMS3_ENST00000452462.1_Silent_p.T395T|RBMS3_ENST00000473799.1_3'UTR			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	411					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCAGGACACCAGTGGTCAGC	0.478													C|||	59	0.0117812	0.0	0.0231	5008	,	,		21432	0.0		0.0278	False		,,,				2504	0.0153				p.T411T		Atlas-SNP	.											.	RBMS3	62	.	0			c.C1233G						PASS	.	C	,,,,	21,4385	29.0+/-57.7	0,21,2182	233	178	196		1179,1233,1185,1224,1185	3.5	1	3	dbSNP_132	196	224,8376	93.3+/-155.3	0,224,4076	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBMS3	NM_001003792.2,NM_001003793.2,NM_001177711.1,NM_001177712.1,NM_014483.3	,,,,	0,245,6258	GG,GC,CC		2.6047,0.4766,1.8837	,,,,	393/420,411/438,395/422,408/434,395/421	30032626	245,12761	2203	4300	6503	SO:0001819	synonymous_variant	27303	exon14			GGACACCAGTGGT	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1233C>G	3.37:g.30032626C>G		Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	294	127	0.431973	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																			C|0.982;G|0.018	0.018	strong		0.478	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		G	30032626	C	G	30032626	2	3	23	1	0	0	0	0	0	0	0	1	13150	581	21	4		4	RBMS3	3	30032626	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4397426	30032626	167989804	879	17335										
GPD1L	23171	hgsc.bcm.edu	37	chr3	32181761	32181761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctgaagctcatttctgaCatcatccgtgagaagatggg	13	8	3	4	rs9835387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:32181761C>T	ENST00000282541.5	+	4	609	c.408C>T	c.(406-408)gaC>gaT	p.D136D		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	136					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TCATTTCTGACATCATCCGTG	0.512													C|||	750	0.14976	0.2965	0.1182	5008	,	,		19949	0.002		0.1362	False		,,,				2504	0.1401				p.D136D		Atlas-SNP	.											.	GPD1L	25	.	0			c.C408T						PASS	.	C		1282,3124	437.6+/-345.0	178,926,1099	178	178	178		408	5.5	1	3	dbSNP_119	178	1193,7407	241.8+/-272.0	95,1003,3202	no	coding-synonymous	GPD1L	NM_015141.3		273,1929,4301	TT,TC,CC		13.8721,29.0967,19.0297		136/352	32181761	2475,10531	2203	4300	6503	SO:0001819	synonymous_variant	23171	exon4			TTCTGACATCATC	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.408C>T	3.37:g.32181761C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	162	70	0.432099	NM_015141	A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	CCDS33729.1																																																																																			C|0.828;T|0.172	0.172	strong		0.512	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		T	32181761	C	T	32181761	2	4	23	1	0	0	0	0	0	0	0	1	6605	477	17	2		2	GPD1L	3	32181761	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2149135	32181761	165840669	880	17336										
TRIM71	131405	hgsc.bcm.edu	37	chr3	32933036	32933036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcaccccgactgccagtcGgcacgctttctgggctcgga	11	15	2	0	rs13096271	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:32933036G>A	ENST00000383763.5	+	4	2403	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	780					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGCCAGTCGGCACGCTTTC	0.612													G|||	719	0.14357	0.1044	0.0836	5008	,	,		18483	0.2907		0.0855	False		,,,				2504	0.1472				p.S780S		Atlas-SNP	.											TRIM71,NS,meningioma,+1,1	TRIM71	73	1	0			c.G2340A						PASS	.	G		352,3574		27,298,1638	39	41	41		2340	-11.9	0	3	dbSNP_121	41	815,7499		39,737,3381	no	coding-synonymous	TRIM71	NM_001039111.1		66,1035,5019	AA,AG,GG		9.8027,8.9659,9.5343		780/869	32933036	1167,11073	1963	4157	6120	SO:0001819	synonymous_variant	131405	exon4			CCAGTCGGCACGC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2340G>A	3.37:g.32933036G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	68	30	0.441176	NM_001039111		Silent	SNP	ENST00000383763.5	37	CCDS43060.1																																																																																			G|0.873;A|0.127	0.127	strong		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32933036	G	A	32933036	2	1	23	1	0	0	0	0	0	0	0	1	16541	1103	39	1		1	TRIM71	3	32933036	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	751275	32933036	165089394	881	17337										
CCR4	1233	hgsc.bcm.edu	37	chr3	32995928	32995928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgggctcctccaaatttaCtctgctgacacccccagctc	7	16	1	1	rs2228428	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:32995928C>T	ENST00000330953.5	+	2	1182	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	338					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCAAATTTACTCTGCTGACA	0.463													C|||	735	0.146765	0.0356	0.2349	5008	,	,		19281	0.0208		0.3141	False		,,,				2504	0.1922				p.Y338Y		Atlas-SNP	.											.	CCR4	36	.	0			c.C1014T						PASS	.	C		348,4054	164.0+/-195.7	14,320,1867	52	52	52		1014	2.1	0	3	dbSNP_98	52	2713,5887	421.9+/-353.9	446,1821,2033	no	coding-synonymous	CCR4	NM_005508.4		460,2141,3900	TT,TC,CC		31.5465,7.9055,23.5425		338/361	32995928	3061,9941	2201	4300	6501	SO:0001819	synonymous_variant	1233	exon2			AATTTACTCTGCT	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.1014C>T	3.37:g.32995928C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	192	96	0.5	NM_005508	Q9ULY6|Q9ULY7	Silent	SNP	ENST00000330953.5	37	CCDS2656.1																																																																																			C|0.799;T|0.201	0.201	strong		0.463	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			T	32995928	C	T	32995928	2	4	23	1	0	0	0	0	0	0	0	1	2943	576	20	2		2	CCR4	3	32995928	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	62892	32995928	165026502	882	17338										
CRTAP	10491	hgsc.bcm.edu	37	chr3	33174156	33174156	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taccagtaccacagggacacTtggggcctctcggatgagca	12	12	1	1	rs1135127	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:33174156T>G	ENST00000320954.6	+	5	1131	c.1032T>G	c.(1030-1032)acT>acG	p.T344T	CRTAP_ENST00000449224.1_Silent_p.T301T	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	344					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)	p.T344T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ACAGGGACACTTGGGGCCTCT	0.522													T|||	1470	0.29353	0.2451	0.268	5008	,	,		18251	0.1548		0.4354	False		,,,				2504	0.3742				p.T344T		Atlas-SNP	.											CRTAP,NS,carcinoma,0,1	CRTAP	16	1	1	Substitution - coding silent(1)	stomach(1)	c.T1032G						PASS	.	T		1168,3238	411.5+/-335.8	160,848,1195	143	126	132	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1032	1.5	1	3	dbSNP_86	132	3831,4769	539.1+/-383.5	873,2085,1342	no	coding-synonymous	CRTAP	NM_006371.4		1033,2933,2537	GG,GT,TT		44.5465,26.5093,38.4361		344/402	33174156	4999,8007	2203	4300	6503	SO:0001819	synonymous_variant	10491	exon5			GGACACTTGGGGC	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1032T>G	3.37:g.33174156T>G		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	168	84	0.5	NM_006371	B2RBL6	Silent	SNP	ENST00000320954.6	37	CCDS2657.1																																																																																			T|0.645;G|0.355	0.355	strong		0.522	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			G	33174156	T	G	33174156	2	3	23	1	0	0	0	0	0	0	0	1	3898	1596	56	5		5	CRTAP	3	33174156	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	178228	33174156	164848274	883	17339										
UBP1	7342	hgsc.bcm.edu	37	chr3	33434831	33434831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaacaagaatgtgaataccGgtgggaccctgtctgtaaac	10	9	1	2	rs2293250	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:33434831G>A	ENST00000283629.3	-	14	2035	c.1506C>T	c.(1504-1506)acC>acT	p.T502T	UBP1_ENST00000283628.5_Silent_p.T502T|UBP1_ENST00000447368.2_Silent_p.T466T|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	502					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGTGAATACCGGTGGGACCCT	0.368													A|||	2705	0.540136	0.5552	0.6326	5008	,	,		16560	0.6141		0.4732	False		,,,				2504	0.4468				p.T502T		Atlas-SNP	.											.	UBP1	42	.	0			c.C1506T						PASS	.	A	,,	2543,1863	540.7+/-375.6	712,1119,372	79	79	79		1398,1506,1506	-2	1	3	dbSNP_100	79	3856,4744	609.5+/-395.5	848,2160,1292	no	coding-synonymous,coding-synonymous,coding-synonymous	UBP1	NM_001128160.1,NM_001128161.1,NM_014517.4	,,	1560,3279,1664	AA,AG,GG		44.8372,42.2833,49.2004	,,	466/505,502/541,502/541	33434831	6399,6607	2203	4300	6503	SO:0001819	synonymous_variant	7342	exon14			AATACCGGTGGGA	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1506C>T	3.37:g.33434831G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	112	48	0.428571	NM_014517	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	CCDS2659.1																																																																																			G|0.490;N|0.001	.	strong		0.368	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		A	33434831	G	A	33434831	2	1	23	1	0	0	0	0	0	0	0	1	16892	1103	39	1		1	UBP1	3	33434831	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	260675	33434831	164587599	884	17340										
VILL	50853	hgsc.bcm.edu	37	chr3	38043904	38043904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggagagagctgggcaccaTggaaaggggcagtcagcatc	16	8	1	1	rs9843296	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38043904T>C	ENST00000283713.6	+	14	1763	c.1497T>C	c.(1495-1497)caT>caC	p.H499H	VILL_ENST00000383759.2_Silent_p.H499H|VILL_ENST00000465644.1_Silent_p.H217H			O15195	VILL_HUMAN	villin-like	499					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H499H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGGCACCATGGAAAGGGGC	0.612													T|||	971	0.19389	0.3495	0.1268	5008	,	,		19229	0.0853		0.1282	False		,,,				2504	0.2106				p.H499H		Atlas-SNP	.											VILL,NS,carcinoma,0,1	VILL	61	1	1	Substitution - coding silent(1)	stomach(1)	c.T1497C						PASS	.	T		1463,2943	470.5+/-355.8	247,969,987	84	69	74		1497	-9.6	0	3	dbSNP_119	74	1321,7279	260.2+/-283.1	100,1121,3079	no	coding-synonymous	VILL	NM_015873.3		347,2090,4066	CC,CT,TT		15.3605,33.2047,21.4055		499/857	38043904	2784,10222	2203	4300	6503	SO:0001819	synonymous_variant	50853	exon13			GCACCATGGAAAG		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1497T>C	3.37:g.38043904T>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			T|0.803;C|0.197	0.197	strong		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		C	38043904	T	C	38043904	2	2	23	1	0	0	0	0	0	0	0	1	17162	1461	51	2		2	VILL	3	38043904	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4609073	38043904	159978526	885	17341										
VILL	50853	hgsc.bcm.edu	37	chr3	38047680	38047680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttgctccagagccacccGtcccacaaggaagtggtgga	11	13	1	1	rs11707277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38047680G>A	ENST00000283713.6	+	18	2408	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	VILL_ENST00000383759.2_Silent_p.P714P|VILL_ENST00000465644.1_Silent_p.P432P			O15195	VILL_HUMAN	villin-like	714					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.P714P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGAGCCACCCGTCCCACAAGG	0.617													G|||	546	0.109026	0.0545	0.098	5008	,	,		18268	0.0843		0.1252	False		,,,				2504	0.1994				p.P714P		Atlas-SNP	.											VILL,NS,carcinoma,+1,2	VILL	61	2	1	Substitution - coding silent(1)	stomach(1)	c.G2142A						PASS	.	G		430,3976	208.5+/-229.5	29,372,1802	78	83	82		2142	2.6	0.1	3	dbSNP_120	82	1299,7301	257.3+/-281.4	99,1101,3100	no	coding-synonymous	VILL	NM_015873.3		128,1473,4902	AA,AG,GG		15.1047,9.7594,13.2939		714/857	38047680	1729,11277	2203	4300	6503	SO:0001819	synonymous_variant	50853	exon17			CCACCCGTCCCAC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2142G>A	3.37:g.38047680G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	112	63	0.5625	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			G|0.881;A|0.119	0.119	strong		0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		A	38047680	G	A	38047680	2	1	23	1	0	0	0	0	0	0	0	1	17162	1132	40	1		1	VILL	3	38047680	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3776	38047680	159974750	886	17342										
VILL	50853	hgsc.bcm.edu	37	chr3	38047954	38047954	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacaggaagtcaacaacttGcggctatccagatggccggg	14	10	1	1	rs9816693	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38047954G>C	ENST00000283713.6	+	19	2486	c.2220G>C	c.(2218-2220)ttG>ttC	p.L740F	VILL_ENST00000383759.2_Missense_Mutation_p.L740F|VILL_ENST00000465644.1_Missense_Mutation_p.L458F			O15195	VILL_HUMAN	villin-like	740			L -> F (in dbSNP:rs9816693).		actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.L740F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCAACAACTTGCGGCTATCCA	0.617													C|||	1164	0.232428	0.4168	0.1383	5008	,	,		17942	0.0863		0.1441	False		,,,				2504	0.2914				p.L740F		Atlas-SNP	.											VILL,NS,carcinoma,0,1	VILL	61	1	1	Substitution - Missense(1)	stomach(1)	c.G2220C						scavenged	.	C	PHE/LEU	1635,2753		309,1017,868	74	88	83		2220	2.3	0.5	3	dbSNP_119	83	1448,7118		121,1206,2956	yes	missense	VILL	NM_015873.3	22	430,2223,3824	CC,CG,GG		16.904,37.2607,23.7996	benign	740/857	38047954	3083,9871	2194	4283	6477	SO:0001583	missense	50853	exon18			CAACTTGCGGCTA		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2220G>C	3.37:g.38047954G>C	ENSP00000283713:p.Leu740Phe	Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	190	67	0.352632	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	389	0.17811355311355312	194	0.3943089430894309	44	0.12154696132596685	45	0.07867132867132867	106	0.13984168865435356	C	0.885	-0.727332	0.03158	0.372607	0.16904	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.14516	2.58;2.58;2.5	3.14	2.26	0.28386	.	0.479810	0.20403	N	0.093008	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.44086	T	0.13	-11.3814	4.5018	0.11867	0.0:0.6389:0.2314:0.1297	rs9816693;rs58692772;rs9816693	740	O15195	VILL_HUMAN	F	740;740;726;458	ENSP00000283713:L740F;ENSP00000373266:L740F;ENSP00000422096:L458F	ENSP00000283713:L740F	L	+	3	2	VILL	38022958	0.001000	0.12720	0.499000	0.27577	0.691000	0.40173	-0.005000	0.12855	0.379000	0.24794	-0.357000	0.07601	TTG	G|0.800;C|0.200	0.200	strong		0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		C	38047954	G	C	38047954	3	2	23	1	0	0	0	0	1	0	0	0	17162	1310	46	4	2290	4	VILL	3	38047954	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	274	38047954	159974476	887	17343										
PLCD1	5333	hgsc.bcm.edu	37	chr3	38051941	38051941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaccaggtagtggctaagTggctggcccatgtcctggta	14	10	0	0	rs9857730	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38051941T>C	ENST00000334661.4	-	6	1125	c.903A>G	c.(901-903)ccA>ccG	p.P301P	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.P322P	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	301	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGTGGCTAAGTGGCTGGCCCA	0.612													C|||	1336	0.266773	0.5053	0.1657	5008	,	,		19691	0.0863		0.1769	False		,,,				2504	0.2945				p.P322P		Atlas-SNP	.											PLCD1_ENST00000463876,NS,carcinoma,0,2	PLCD1	87	2	0			c.A966G						PASS	.	C	,	2062,2344	607.3+/-390.9	479,1104,620	55	56	56		966,903	-5.7	0.8	3	dbSNP_119	56	1808,6792	731.9+/-406.8	181,1446,2673	no	coding-synonymous,coding-synonymous	PLCD1	NM_001130964.1,NM_006225.3	,	660,2550,3293	CC,CT,TT		21.0233,46.7998,29.7555	,	322/778,301/757	38051941	3870,9136	2203	4300	6503	SO:0001819	synonymous_variant	5333	exon6			GCTAAGTGGCTGG		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.903A>G	3.37:g.38051941T>C		Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	159	83	0.522013	NM_001130964	B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	CCDS2671.1																																																																																			T|0.725;C|0.275	0.275	strong		0.612	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			C	38051941	T	C	38051941	2	2	23	1	0	0	0	0	0	0	0	1	12031	1683	59	2		2	PLCD1	3	38051941	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3987	38051941	159970489	888	17344										
DLEC1	9940	hgsc.bcm.edu	37	chr3	38125704	38125704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgctacctgcgagtcctccCgccttccacgccatacttcg	7	20	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38125704C>T	ENST00000308059.6	+	7	1250	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Missense_Mutation_p.P410L|DLEC1_ENST00000452631.2_Missense_Mutation_p.P410L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAGTCCTCCCGCCTTCCACG	0.453																																					p.P410L		Atlas-SNP	.											.	DLEC1	278	.	0			c.C1229T						PASS	.						110	121	117					3																	38125704		2083	4217	6300	SO:0001583	missense	9940	exon7			TCCTCCCGCCTTC	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1229C>T	3.37:g.38125704C>T	ENSP00000308597:p.Pro410Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	178	89	0.5	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	c	23.3	4.394599	0.83011	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.08984	3.03;3.05;3.27	5.4	5.4	0.78164	.	0.060013	0.64402	D	0.000002	T	0.32882	0.0844	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.03545	-1.1026	10	0.56958	D	0.05	-17.7606	17.9203	0.88964	0.0:1.0:0.0:0.0	.	410;410;410;410	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	L	410	ENSP00000308597:P410L;ENSP00000315914:P410L;ENSP00000410427:P410L	ENSP00000308597:P410L	P	+	2	0	DLEC1	38100708	0.999000	0.42202	0.891000	0.34965	0.768000	0.43524	5.469000	0.66749	2.532000	0.85374	0.524000	0.50904	CCG	.	.	none		0.453	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		T	38125704	C	T	38125704	3	4	23	1	0	0	0	0	1	0	0	0	4552	652	23	1	1255	1	DLEC1	3	38125704	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	73763	38125704	159896726	889	17345										
SLC22A14	9389	hgsc.bcm.edu	37	chr3	38355225	38355225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcttcatccaggtttaccGtcagttacacctattttacg	7	11	2	0	rs73064822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38355225G>A	ENST00000273173.4	+	7	1262	c.1171G>A	c.(1171-1173)Gtc>Atc	p.V391I	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V391I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	391					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CAGGTTTACCGTCAGTTACAC	0.582													G|||	836	0.166933	0.1626	0.196	5008	,	,		15883	0.2063		0.1859	False		,,,				2504	0.092				p.V391I		Atlas-SNP	.											.	SLC22A14	64	.	0			c.G1171A						PASS	.	G	ILE/VAL	729,3677	300.1+/-286.2	63,603,1537	93	86	89		1171	-6.2	0	3	dbSNP_130	89	1434,7166	273.8+/-290.9	127,1180,2993	yes	missense	SLC22A14	NM_004803.3	29	190,1783,4530	AA,AG,GG		16.6744,16.5456,16.6308	benign	391/595	38355225	2163,10843	2203	4300	6503	SO:0001583	missense	9389	exon7			TTTACCGTCAGTT	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1171G>A	3.37:g.38355225G>A	ENSP00000273173:p.Val391Ile	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	35	11	0.314286	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	414	0.18956043956043955	86	0.17479674796747968	74	0.20441988950276244	112	0.1958041958041958	142	0.18733509234828497	G	2.686	-0.274360	0.05679	0.165456	0.166744	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.74106	-0.81;-0.81	3.6	-6.15	0.02105	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.740334	0.12590	N	0.455649	T	0.00109	0.0003	L	0.39898	1.24	0.80722	P	0.0	B	0.14805	0.011	B	0.15870	0.014	T	0.01874	-1.1256	9	0.42905	T	0.14	.	11.7661	0.51930	0.3639:0.0:0.6361:0.0	.	391	Q9Y267	S22AE_HUMAN	I	391	ENSP00000396283:V391I;ENSP00000273173:V391I	ENSP00000273173:V391I	V	+	1	0	SLC22A14	38330229	0.000000	0.05858	0.000000	0.03702	0.540000	0.34992	-1.703000	0.01900	-1.385000	0.02101	-0.339000	0.08088	GTC	G|0.825;A|0.175	0.175	strong		0.582	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		A	38355225	G	A	38355225	3	1	23	1	0	0	0	0	1	0	0	0	14445	1145	40	1	1197	1	SLC22A14	3	38355225	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	229521	38355225	159667205	890	17346										
ACVR2B	93	hgsc.bcm.edu	37	chr3	38524664	38524664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgtgaccatcgaggagtgCtgggaccatgatgcagaggc	16	8	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38524664C>T	ENST00000352511.4	+	11	1852	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TCGAGGAGTGCTGGGACCATG	0.587																																					p.C460C		Atlas-SNP	.											ACVR2B_ENST00000352511,NS,carcinoma,0,2	ACVR2B	88	2	0			c.C1380T						scavenged	.						206	184	192					3																	38524664		2203	4300	6503	SO:0001819	synonymous_variant	93	exon11			GGAGTGCTGGGAC	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1380C>T	3.37:g.38524664C>T		Somatic	233	2	0.00858369		WXS	Illumina HiSeq	Phase_I	188	2	0.0106383	NM_001106	Q4VAV0	Silent	SNP	ENST00000352511.4	37	CCDS2679.1																																																																																			.	.	none		0.587	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		T	38524664	C	T	38524664	2	4	23	1	0	0	0	0	0	0	0	1	224	805	28	2		2	ACVR2B	3	38524664	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	169439	38524664	159497766	891	17347										
SCN5A	6331	hgsc.bcm.edu	37	chr3	38645420	38645420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggcaccagcagtgatgtgTggtggctctcgctctccccc	13	14	2	1	rs1805124	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38645420T>C	ENST00000333535.4	-	12	1822	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	SCN5A_ENST00000425664.1_Missense_Mutation_p.H558R|SCN5A_ENST00000423572.2_Missense_Mutation_p.H558R|SCN5A_ENST00000450102.2_Missense_Mutation_p.H558R|SCN5A_ENST00000449557.2_Missense_Mutation_p.H558R|SCN5A_ENST00000455624.2_Missense_Mutation_p.H558R|SCN5A_ENST00000451551.2_Missense_Mutation_p.H558R|SCN5A_ENST00000413689.1_Missense_Mutation_p.H558R|SCN5A_ENST00000414099.2_Missense_Mutation_p.H558R|SCN5A_ENST00000443581.1_Missense_Mutation_p.H558R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	558			H -> R (channels properties are similar to wild-type; the double mutant Arg-558/ Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities; can modulate the gating defects caused by Ala-2006 and other mutations; dbSNP:rs1805124). {ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12051963, ECO:0000269|PubMed:12454206, ECO:0000269|PubMed:12569159, ECO:0000269|PubMed:14500339, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18368697, ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGTGATGTGTGGTGGCTCTC	0.627													C|||	1154	0.230431	0.3094	0.2277	5008	,	,		17254	0.1012		0.2167	False		,,,				2504	0.273				p.H558R		Atlas-SNP	.											SCN5A_ENST00000413689,colon,carcinoma,0,3	SCN5A	634	3	0			c.A1673G	GRCh37	CM031355	SCN5A	M	rs1805124	scavenged	.	C	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	1151,3037		156,839,1099	48	54	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1673,1673,1673,1673,1673,1673	2.4	1	3	dbSNP_89	52	1957,6475		248,1461,2507	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	404,2300,3606	CC,CT,TT		23.2092,27.4833,24.6276	benign,benign,benign,benign,benign,benign	558/2016,558/2017,558/1999,558/1984,558/1963,558/2017	38645420	3108,9512	2094	4216	6310	SO:0001583	missense	6331	exon12			GATGTGTGGTGGC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1673A>G	3.37:g.38645420T>C	ENSP00000328968:p.His558Arg	Somatic	230	1	0.00434783		WXS	Illumina HiSeq	Phase_I	196	71	0.362245	NM_001160160	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	450	0.20604395604395603	147	0.29878048780487804	75	0.20718232044198895	63	0.11013986013986014	165	0.21767810026385223	C	0.349	-0.945829	0.02304	0.274833	0.232092	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.94613	-3.39;-3.41;-3.41;-3.46;-3.41;-3.39;-3.42;-3.47;-3.46;-3.46	4.27	2.44	0.29823	Domain of unknown function DUF3451 (1);	0.329193	0.30602	N	0.009278	T	0.00012	0.0000	N	0.00114	-2.085	0.44771	P	0.0022280000000000078	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.45702	-0.9243	9	0.02654	T	1	.	15.5745	0.76365	0.0:0.9158:0.0:0.0842	rs1805124;rs58801095;rs1805124	558;558;558;558;558;558;558	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	R	558	ENSP00000398962:H558R;ENSP00000398266:H558R;ENSP00000410257:H558R;ENSP00000388797:H558R;ENSP00000397915:H558R;ENSP00000416634:H558R;ENSP00000328968:H558R;ENSP00000399524:H558R;ENSP00000403355:H558R;ENSP00000413996:H558R	ENSP00000328968:H558R	H	-	2	0	SCN5A	38620424	0.998000	0.40836	0.992000	0.48379	0.570000	0.35934	1.656000	0.37355	0.109000	0.17891	-2.400000	0.00224	CAC	T|0.790;C|0.210	0.210	strong		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		C	38645420	T	C	38645420	3	2	23	1	0	0	0	0	1	0	0	0	13922	1696	59	2	4445	2	SCN5A	3	38645420	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	120756	38645420	159377010	892	17348										
SCN10A	6336	hgsc.bcm.edu	37	chr3	38753732	38753732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagaagaagctgccagtggAgttttgaatcttgcagtcag	12	8	2	3	rs11711062	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38753732A>T	ENST00000449082.2	-	22	4008	c.4009T>A	c.(4009-4011)Tcc>Acc	p.S1337T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1337					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCCAGTGGAGTTTTGAATC	0.443													A|||	6	0.00119808	0.0	0.0058	5008	,	,		22128	0.0		0.001	False		,,,				2504	0.001				p.S1337T		Atlas-SNP	.											.	SCN10A	359	.	0			c.T4009A						PASS	.	A	THR/SER	3,4403	6.2+/-15.9	0,3,2200	124	121	122		4009	-9.3	0	3	dbSNP_120	122	56,8544	35.9+/-90.5	0,56,4244	yes	missense	SCN10A	NM_006514.2	58	0,59,6444	TT,TA,AA		0.6512,0.0681,0.4536	benign	1337/1957	38753732	59,12947	2203	4300	6503	SO:0001583	missense	6336	exon22			CAGTGGAGTTTTG	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4009T>A	3.37:g.38753732A>T	ENSP00000390600:p.Ser1337Thr	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	240	117	0.4875	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	A	5.860	0.342903	0.11069	6.81E-4	0.006512	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.67	-9.34	0.00636	Ion transport (1);	1.035800	0.07681	N	0.937090	T	0.79885	0.4523	N	0.17082	0.46	0.09310	N	1	B	0.21688	0.059	B	0.24006	0.05	T	0.75682	-0.3233	10	0.10636	T	0.68	.	1.1596	0.01803	0.1365:0.2334:0.2164:0.4137	rs11711062;rs11711062	1337	Q9Y5Y9	SCNAA_HUMAN	T	1337	ENSP00000390600:S1337T	ENSP00000390600:S1337T	S	-	1	0	SCN10A	38728736	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-2.797000	0.00763	-1.865000	0.01147	0.454000	0.30748	TCC	A|0.996;T|0.004	0.004	strong		0.443	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38753732	A	T	38753732	3	4	23	1	0	0	0	0	1	0	0	0	13912	304	11	5	1885	5	SCN10A	3	38753732	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	108312	38753732	159268698	893	17349										
SCN10A	6336	hgsc.bcm.edu	37	chr3	38766701	38766701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaacagactcatctttccaCgtctcacccagggatggagc	10	13	3	1	rs6791171	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:38766701C>T	ENST00000449082.2	-	17	3191	c.3192G>A	c.(3190-3192)acG>acA	p.T1064T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1064					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATCTTTCCACGTCTCACCCA	0.592													C|||	578	0.115415	0.1967	0.1383	5008	,	,		19183	0.002		0.1322	False		,,,				2504	0.089				p.T1064T		Atlas-SNP	.											.	SCN10A	359	.	0			c.G3192A						PASS	.	C		880,3526	343.8+/-307.8	98,684,1421	79	77	77		3192	0	0	3	dbSNP_116	77	1216,7384	245.0+/-274.0	80,1056,3164	no	coding-synonymous	SCN10A	NM_006514.2		178,1740,4585	TT,TC,CC		14.1395,19.9728,16.1156		1064/1957	38766701	2096,10910	2203	4300	6503	SO:0001819	synonymous_variant	6336	exon17			TTTCCACGTCTCA	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3192G>A	3.37:g.38766701C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	156	57	0.365385	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																			C|0.861;T|0.139	0.139	strong		0.592	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38766701	C	T	38766701	2	4	23	1	0	0	0	0	0	0	0	1	13912	523	19	1		1	SCN10A	3	38766701	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12969	38766701	159255729	894	17350										
WDR48	57599	hgsc.bcm.edu	37	chr3	39111140	39111140	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attaaaattcacaggtgttaCgggtatgggatccaagaaca	10	6	1	1	rs2293312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:39111140C>A	ENST00000302313.5	+	7	605	c.577C>A	c.(577-579)Cgg>Agg	p.R193R	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Silent_p.R111R|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	193					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGGTGTTACGGGTATGGGA	0.338													A|||	2239	0.447085	0.8396	0.3242	5008	,	,		17000	0.3403		0.3231	False		,,,				2504	0.2413				p.R193R		Atlas-SNP	.											.	WDR48	41	.	0			c.C577A						PASS	.	A		3318,1088	392.6+/-328.5	1249,820,134	122	120	121		577	3.1	1	3	dbSNP_100	121	2785,5815	678.7+/-403.5	470,1845,1985	no	coding-synonymous	WDR48	NM_020839.2		1719,2665,2119	AA,AC,CC		32.3837,24.6936,46.9245		193/678	39111140	6103,6903	2203	4300	6503	SO:0001819	synonymous_variant	57599	exon7			GTGTTACGGGTAT	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.577C>A	3.37:g.39111140C>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_020839	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Silent	SNP	ENST00000302313.5	37	CCDS33738.1																																																																																			C|0.529;N|0.000	.	strong		0.338	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		A	39111140	C	A	39111140	2	1	23	1	0	0	0	0	0	0	0	1	17298	527	19	4		4	WDR48	3	39111140	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	344439	39111140	158911290	895	17351										
XIRP1	165904	hgsc.bcm.edu	37	chr3	39227495	39227495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgggtcaaaggtcctcaCgggatgagcggtgtagatgc	17	7	2	2	rs142860074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:39227495C>T	ENST00000340369.3	-	2	3670	c.3442G>A	c.(3442-3444)Gtg>Atg	p.V1148M	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1148					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.V1148M(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGGTCCTCACGGGATGAGCG	0.617																																					p.V1148M		Atlas-SNP	.											XIRP1,colon,carcinoma,0,1	XIRP1	173	1	1	Substitution - Missense(1)	large_intestine(1)	c.G3442A						PASS	.	C	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59	60	60		,3442	1.6	0	3	dbSNP_134	60	7,8593	5.7+/-21.5	0,7,4293	yes	intron,missense	XIRP1	NM_001198621.1,NM_194293.2	,21	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	,possibly-damaging	,1148/1844	39227495	8,12998	2203	4300	6503	SO:0001583	missense	165904	exon2			TCCTCACGGGATG	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3442G>A	3.37:g.39227495C>T	ENSP00000343140:p.Val1148Met	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	146	77	0.527397	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	5.679	0.309769	0.10733	2.27E-4	8.14E-4	ENSG00000168334	ENST00000340369	T	0.06142	3.34	4.39	1.58	0.23477	.	0.713130	0.12138	U	0.496126	T	0.05686	0.0149	L	0.43152	1.355	0.09310	N	1	B	0.28208	0.203	B	0.14578	0.011	T	0.34054	-0.9844	10	0.45353	T	0.12	.	6.8454	0.23984	0.0:0.6999:0.0:0.3001	.	1148	Q702N8	XIRP1_HUMAN	M	1148	ENSP00000343140:V1148M	ENSP00000343140:V1148M	V	-	1	0	XIRP1	39202499	0.840000	0.29493	0.025000	0.17156	0.219000	0.24729	1.440000	0.35024	0.227000	0.20999	0.561000	0.74099	GTG	C|0.999;T|0.001	0.001	strong		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39227495	C	T	39227495	3	4	23	1	0	0	0	0	1	0	0	0	17426	536	19	1	2093	1	XIRP1	3	39227495	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	116355	39227495	158794935	896	17352										
RPSA	3921	hgsc.bcm.edu	37	chr3	39453160	39453160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagctcactcagtgggtttGatgtggtggatgctggctcg	17	7	2	1	rs2269350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:39453160G>A	ENST00000301821.6	+	5	628	c.519G>A	c.(517-519)ttG>ttA	p.L173L	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L178L|SNORA62_ENST00000365493.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CAGTGGGTTTGATGTGGTGGA	0.512													G|||	1256	0.250799	0.152	0.3084	5008	,	,		20924	0.2778		0.3082	False		,,,				2504	0.2566				p.L173L		Atlas-SNP	.											.	RPSA	15	.	0			c.G519A						PASS	.	G	,	733,3673	303.8+/-288.1	51,631,1521	150	150	150		519,519	2.8	1	3	dbSNP_100	150	2788,5812	439.2+/-359.1	457,1874,1969	no	coding-synonymous,coding-synonymous	RPSA	NM_001012321.1,NM_002295.4	,	508,2505,3490	AA,AG,GG		32.4186,16.6364,27.0721	,	173/296,173/296	39453160	3521,9485	2203	4300	6503	SO:0001819	synonymous_variant	3921	exon4			GGGTTTGATGTGG	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"laminin receptor 1 (67kD, ribosomal protein SA)"	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.519G>A	3.37:g.39453160G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	54	22	0.407407	NM_001012321		Silent	SNP	ENST00000301821.6	37	CCDS2686.1																																																																																			G|0.745;A|0.255	0.255	strong		0.512	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		A	39453160	G	A	39453160	2	1	23	1	0	0	0	0	0	0	0	1	13663	1281	45	2		2	RPSA	3	39453160	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	225665	39453160	158569270	897	17353										
TRAK1	22906	hgsc.bcm.edu	37	chr3	42251263	42251263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctttctcctgcaaggttcCgccacacttcaccactggca	6	18	2	0	rs2290134	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:42251263C>T	ENST00000327628.5	+	14	2149	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	TRAK1_ENST00000341421.3_Silent_p.S525S|TRAK1_ENST00000396175.1_Silent_p.S525S|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	583					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						tGCAAGGTTCCGCCACACTTC	0.592													T|||	2579	0.514976	0.4342	0.6499	5008	,	,		15727	0.504		0.499	False		,,,				2504	0.5562				p.S583S	GBM(44;195 884 22595 31865 41850)	Atlas-SNP	.											.	TRAK1	188	.	0			c.C1749T						PASS	.	T	,	1982,2424	617.8+/-393.0	467,1048,688	64	60	61		1749,1575	-1.6	1	3	dbSNP_100	61	4374,4226	570.6+/-389.4	1125,2124,1051	no	coding-synonymous,coding-synonymous	TRAK1	NM_001042646.1,NM_014965.3	,	1592,3172,1739	TT,TC,CC		49.1395,44.9841,48.8698	,	583/954,525/687	42251263	6356,6650	2203	4300	6503	SO:0001819	synonymous_variant	22906	exon14			AGGTTCCGCCACA		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1749C>T	3.37:g.42251263C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	39	22	0.564103	NM_001265608	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	CCDS43072.1																																																																																			C|0.503;T|0.497	0.497	strong		0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		T	42251263	C	T	42251263	2	4	23	1	0	0	0	0	0	0	0	1	16446	639	23	1		1	TRAK1	3	42251263	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2798103	42251263	155771167	898	17354										
TRAK1	22906	hgsc.bcm.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					p.T688delinsTE	GBM(44;195 884 22595 31865 41850)	Pindel,Atlas-Indel	.											TRAK1,caecum,carcinoma,0,1	TRAK1	188	1	1	Deletion - In frame(1)	kidney(1)	c.2063_2064insGGA						PASS	.																																			SO:0001627	intron_variant	22906	exon14			.		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA		Somatic	88	.	.		WXS	Illumina HiSeq	Phase_I	72	11	0.153	NM_001265608	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	ENST00000327628.5	37	CCDS43072.1																																																																																			.	.	strong		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		GGA	42251578	-	GGA	42251577	6	5	23	0	1	1	1	0	0	0	0	0	16446	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-GR-7353-01A-11D-2210-10	314	42251577	155770853	899	17355										
ABHD5	51099	hgsc.bcm.edu	37	chr3	43732496	43732496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggcggctatggcggcggaGgaggaggaggtggactctgc	22	8	1	0	rs141365045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:43732496G>A	ENST00000458276.2	+	1	135	c.12G>A	c.(10-12)gaG>gaA	p.E4E	ANO10_ENST00000495772.1_Intron	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	4					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGGCGGCGGAGGAGGAGGAGG	0.736													G|||	184	0.0367412	0.0106	0.0303	5008	,	,		10264	0.0258		0.0239	False		,,,				2504	0.1012				p.E4E		Atlas-SNP	.											.	ABHD5	33	.	0			c.G12A						PASS	.	G		38,4310		0,38,2136	14	21	18		12	3	1	3	dbSNP_134	18	205,8307		2,201,4053	no	coding-synonymous	ABHD5	NM_016006.4		2,239,6189	AA,AG,GG		2.4084,0.874,1.8896		4/350	43732496	243,12617	2174	4256	6430	SO:0001819	synonymous_variant	51099	exon1			GGCGGAGGAGGAG	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"Abhydrolase domain containing"	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.12G>A	3.37:g.43732496G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	27	18	0.666667	NM_016006	B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	37	CCDS2711.1																																																																																			G|0.979;A|0.021	0.021	strong		0.736	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		A	43732496	G	A	43732496	2	1	23	1	0	0	0	0	0	0	0	1	85	991	35	2		2	ABHD5	3	43732496	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1480919	43732496	154289934	900	17356										
ZNF445	353274	hgsc.bcm.edu	37	chr3	44489880	44489880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccatatttcttgtagtcaTagtggtgtgaactcattctg	8	8	4	1	rs11710965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:44489880T>C	ENST00000396077.2	-	8	1630	c.1283A>G	c.(1282-1284)tAt>tGt	p.Y428C	ZNF445_ENST00000425708.2_Missense_Mutation_p.Y428C	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	428			Y -> C (in dbSNP:rs11710965).		transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTGTAGTCATAGTGGTGTGA	0.418													T|||	243	0.0485224	0.0121	0.0648	5008	,	,		22516	0.0		0.171	False		,,,				2504	0.0102				p.Y428C		Atlas-SNP	.											.	ZNF445	91	.	0			c.A1283G						PASS	.	T	CYS/TYR	165,4241	109.5+/-147.8	2,161,2040	123	124	124		1283	-3.7	0	3	dbSNP_120	124	1322,7278	260.6+/-283.4	98,1126,3076	yes	missense	ZNF445	NM_181489.5	194	100,1287,5116	CC,CT,TT		15.3721,3.7449,11.4332	benign	428/1032	44489880	1487,11519	2203	4300	6503	SO:0001583	missense	353274	exon8			TAGTCATAGTGGT	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1283A>G	3.37:g.44489880T>C	ENSP00000379387:p.Tyr428Cys	Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	231	106	0.458874	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	152	0.0695970695970696	5	0.01016260162601626	18	0.049723756906077346	0	0.0	129	0.17018469656992086	T	11.93	1.786117	0.31593	0.037449	0.153721	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05717	3.4;3.4	3.81	-3.72	0.04411	.	0.863253	0.09860	N	0.746305	T	0.00039	0.0001	M	0.81942	2.565	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.32798	-0.9893	9	0.52906	T	0.07	.	5.022	0.14365	0.1326:0.329:0.0:0.5384	rs11710965;rs52799416;rs56621940;rs59518590;rs11710965	416;428	B7ZKX2;P59923	.;ZN445_HUMAN	C	428	ENSP00000413073:Y428C;ENSP00000379387:Y428C	ENSP00000379387:Y428C	Y	-	2	0	ZNF445	44464884	0.398000	0.25279	0.008000	0.14137	0.631000	0.37964	0.903000	0.28475	-0.657000	0.05373	-0.468000	0.05107	TAT	T|0.903;C|0.097	0.097	strong		0.418	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		C	44489880	T	C	44489880	3	2	23	1	0	0	0	0	1	0	0	0	17915	1406	49	2	1816	2	ZNF445	3	44489880	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	757384	44489880	153532550	901	17357										
ZNF197	10168	hgsc.bcm.edu	37	chr3	44683454	44683454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtagttctcaaagagcaGactctcataaaggaacatca	7	9	3	2	rs148794995	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:44683454G>C	ENST00000396058.1	+	5	999	c.832G>C	c.(832-834)Gac>Cac	p.D278H	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.D278H			O14709	ZN197_HUMAN	zinc finger protein 197	278	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCAAAGAGCAGACTCTCATAA	0.428													G|||	5	0.000998403	0.0015	0.0	5008	,	,		20240	0.0		0.003	False		,,,				2504	0.0				p.D278H		Atlas-SNP	.											.	ZNF197	81	.	0			c.G832C						PASS	.	G	,HIS/ASP	5,4401	9.9+/-24.2	0,5,2198	52	46	48		,832	3.5	0.9	3	dbSNP_134	48	29,8571	19.8+/-62.0	0,29,4271	yes	intron,missense	ZNF197	NM_001024855.1,NM_006991.3	,81	0,34,6469	CC,CG,GG		0.3372,0.1135,0.2614	,probably-damaging	,278/1030	44683454	34,12972	2203	4300	6503	SO:0001583	missense	10168	exon6			AGAGCAGACTCTC	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.832G>C	3.37:g.44683454G>C	ENSP00000379370:p.Asp278His	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	123	57	0.463415	NM_006991	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	15.88	2.964376	0.53507	0.001135	0.003372	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.06449	3.3;3.3	4.4	3.53	0.40419	Krueppel-associated box (1);	0.223039	0.22644	N	0.057419	T	0.05686	0.0149	N	0.14661	0.345	0.24906	N	0.992075	D	0.64830	0.994	P	0.52710	0.707	T	0.33904	-0.9850	10	0.15066	T	0.55	.	6.8742	0.24137	0.2053:0.0:0.7947:0.0	.	278	O14709	ZN197_HUMAN	H	278	ENSP00000345809:D278H;ENSP00000379370:D278H	ENSP00000345809:D278H	D	+	1	0	ZNF197	44658458	0.343000	0.24818	0.927000	0.36925	0.993000	0.82548	3.487000	0.53222	1.209000	0.43321	0.557000	0.71058	GAC	G|0.998;C|0.002	0.002	strong		0.428	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		C	44683454	G	C	44683454	3	2	23	1	0	0	0	0	1	0	0	0	17756	942	33	4	850	4	ZNF197	3	44683454	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	193574	44683454	153338976	902	17358										
ZNF502	91392	hgsc.bcm.edu	37	chr3	44762830	44762830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatcccttacccaacatcAgagaactcatactggagaga	6	13	3	2	rs56084453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:44762830A>G	ENST00000296091.4	+	4	777	c.521A>G	c.(520-522)cAg>cGg	p.Q174R	ZNF502_ENST00000449836.1_Missense_Mutation_p.Q174R|ZNF502_ENST00000436624.2_Missense_Mutation_p.Q174R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	174			Q -> R (in dbSNP:rs56084453).		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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACCCAACATCAGAGAACTCAT	0.408													A|||	531	0.10603	0.0129	0.1571	5008	,	,		21464	0.0446		0.2247	False		,,,				2504	0.137				p.Q174R		Atlas-SNP	.											ZNF502,NS,carcinoma,-1,1	ZNF502	58	1	0			c.A521G						PASS	.	A	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	190,4216	119.6+/-157.3	5,180,2018	126	137	133		521,521,521,521	4.7	1	3	dbSNP_129	133	1862,6738	329.3+/-318.7	195,1472,2633	yes	missense,missense,missense,missense	ZNF502	NM_001134440.1,NM_001134441.1,NM_001134442.1,NM_033210.4	43,43,43,43	200,1652,4651	GG,GA,AA		21.6512,4.3123,15.7773	benign,benign,benign,benign	174/545,174/545,174/545,174/545	44762830	2052,10954	2203	4300	6503	SO:0001583	missense	91392	exon4			AACATCAGAGAAC	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.521A>G	3.37:g.44762830A>G	ENSP00000296091:p.Gln174Arg	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	161	66	0.409938	NM_001134440		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	282	0.12912087912087913	10	0.02032520325203252	73	0.20165745856353592	29	0.050699300699300696	170	0.22427440633245382	A	15.35	2.807929	0.50421	0.043123	0.216512	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.16098	0.37	0.37027	P	0.103526	P	0.52463	0.953	P	0.47864	0.559	T	0.52305	-0.8593	8	0.54805	T	0.06	-5.6043	13.5531	0.61745	1.0:0.0:0.0:0.0	rs56084453;rs61740962	174	Q8TBZ5	ZN502_HUMAN	R	174	ENSP00000397390:Q174R;ENSP00000296091:Q174R;ENSP00000406469:Q174R	ENSP00000296091:Q174R	Q	+	2	0	ZNF502	44737834	0.049000	0.20398	0.972000	0.41901	0.997000	0.91878	0.860000	0.27871	2.109000	0.64355	0.533000	0.62120	CAG	A|0.848;G|0.152	0.152	strong		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		G	44762830	A	G	44762830	3	3	23	1	0	0	0	0	1	0	0	0	17947	188	7	3	527	3	ZNF502	3	44762830	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	79376	44762830	153259600	903	17359										
TGM4	7047	hgsc.bcm.edu	37	chr3	44948563	44948563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctcatctggttggtgaagAtggtgaatgggcaggaggag	19	4	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:44948563A>G	ENST00000296125.4	+	10	1266	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	400					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTTGGTGAAGATGGTGAATGG	0.498																																					p.M400V		Atlas-SNP	.											.	TGM4	82	.	0			c.A1198G						PASS	.						140	128	132					3																	44948563		2203	4300	6503	SO:0001583	missense	7047	exon10			GTGAAGATGGTGA	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1198A>G	3.37:g.44948563A>G	ENSP00000296125:p.Met400Val	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	230	117	0.508696	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	5.841	0.339412	0.11069	.	.	ENSG00000163810	ENST00000296125	T	0.20738	2.05	2.03	-4.07	0.03975	.	0.468908	0.16456	U	0.213616	T	0.04048	0.0113	N	0.01048	-1.04	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.22765	-1.0207	10	0.33141	T	0.24	.	0.4585	0.00512	0.3471:0.1383:0.2793:0.2353	.	400	P49221	TGM4_HUMAN	V	400	ENSP00000296125:M400V	ENSP00000296125:M400V	M	+	1	0	TGM4	44923567	0.002000	0.14202	0.000000	0.03702	0.112000	0.19704	-0.168000	0.09925	-1.271000	0.02430	-0.710000	0.03640	ATG	.	.	none		0.498	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		G	44948563	A	G	44948563	3	3	23	1	0	0	0	0	1	0	0	0	15829	333	12	2	1236	2	TGM4	3	44948563	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	185733	44948563	153073867	904	17360										
SACM1L	22908	hgsc.bcm.edu	37	chr3	45754685	45754685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagaactttctgcacagccAgaggtaatgtacacgaaata	9	8	1	2	rs2271619	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:45754685A>G	ENST00000389061.5	+	6	744	c.540A>G	c.(538-540)ccA>ccG	p.P180P	SACM1L_ENST00000418611.1_Silent_p.P77P|SACM1L_ENST00000541314.1_Silent_p.P119P	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	180	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTGCACAGCCAGAGGTAATGT	0.363													A|||	688	0.13738	0.2095	0.1138	5008	,	,		18601	0.12		0.1203	False		,,,				2504	0.092				p.P180P		Atlas-SNP	.											.	SACM1L	38	.	0			c.A540G						PASS	.	A		883,3523	342.0+/-307.0	87,709,1407	73	74	74		540	4.4	1	3	dbSNP_100	74	1103,7497	228.7+/-263.7	62,979,3259	no	coding-synonymous	SACM1L	NM_014016.3		149,1688,4666	GG,GA,AA		12.8256,20.0409,15.2699		180/588	45754685	1986,11020	2203	4300	6503	SO:0001819	synonymous_variant	22908	exon6			ACAGCCAGAGGTA	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.540A>G	3.37:g.45754685A>G		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	32	19	0.59375	NM_014016	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																			A|0.856;G|0.144	0.144	strong		0.363	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		G	45754685	A	G	45754685	2	3	23	1	0	0	0	0	0	0	0	1	13803	175	7	3		3	SACM1L	3	45754685	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	806122	45754685	152267745	905	17361										
CCR2	729230	hgsc.bcm.edu	37	chr3	46399208	46399208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtgggcaacatgctggtcGtcctcatcttaataaactgc	9	10	2	0	rs1799864	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:46399208G>A	ENST00000400888.2	+	1	229	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	CCR2_ENST00000292301.4_Missense_Mutation_p.V64I|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.V64I			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	64			V -> I (confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; dbSNP:rs1799864). {ECO:0000269|PubMed:9252328, ECO:0000269|PubMed:9662369, ECO:0000269|Ref.4}.		blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CATGCTGGTCGTCCTCATCTT	0.458													G|||	770	0.153754	0.1702	0.2118	5008	,	,		20792	0.2133		0.0865	False		,,,				2504	0.0982				p.V64I		Atlas-SNP	.											CCR2_ENST00000445132,colon,carcinoma,-2,2	CCR2	103	2	0			c.G190A	GRCh37	CM970245	CCR2	M	rs1799864	PASS	.	G	ILE/VAL,ILE/VAL	495,2641		33,429,1106	194	175	181	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	190,190	1.6	0.6	3	dbSNP_89	181	659,6505		35,589,2958	yes	missense,missense	CCR2	NM_001123041.2,NM_001123396.1	29,29	68,1018,4064	AA,AG,GG		9.1988,15.7844,11.2039	benign,benign	64/375,64/361	46399208	1154,9146	1568	3582	5150	SO:0001583	missense	729230	exon2			CTGGTCGTCCTCA		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.190G>A	3.37:g.46399208G>A	ENSP00000383681:p.Val64Ile	Somatic	354	1	0.00282486		WXS	Illumina HiSeq	Phase_I	310	135	0.435484	NM_001123041	A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	CCDS43078.1	368	0.1684981684981685	100	0.2032520325203252	70	0.19337016574585636	125	0.21853146853146854	73	0.09630606860158311	G	11.01	1.512371	0.27036	0.157844	0.091988	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.41	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.439250	0.20583	N	0.089490	T	0.00039	0.0001	L	0.27975	0.815	0.58432	P	1.0000000000287557E-6	B;B	0.27679	0.079;0.185	B;B	0.31390	0.129;0.127	T	0.04900	-1.0919	9	0.34782	T	0.22	.	4.6189	0.12440	0.2407:0.0:0.6024:0.1569	rs1799864;rs17141036;rs61751656	64;64	P41597;Q4VBL2	CCR2_HUMAN;.	I	64	ENSP00000399285:V64I;ENSP00000292301:V64I;ENSP00000396736:V64I;ENSP00000383681:V64I	ENSP00000292301:V64I	V	+	1	0	CCR2	46374212	0.867000	0.29959	0.597000	0.28824	0.891000	0.51852	1.270000	0.33086	0.543000	0.28864	0.650000	0.86243	GTC	G|0.844;A|0.156	0.156	strong		0.458	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		A	46399208	G	A	46399208	3	1	23	1	0	0	0	0	1	0	0	0	2941	1145	40	1	192	1	CCR2	3	46399208	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	644523	46399208	151623222	906	17362										
CCR2	729230	hgsc.bcm.edu	37	chr3	46399226	46399226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgtcctcatcttaataaacTgcaaaaagctgaagtgcttg	7	9	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:46399226T>G	ENST00000400888.2	+	1	247	c.208T>G	c.(208-210)Tgc>Ggc	p.C70G	CCR2_ENST00000292301.4_Missense_Mutation_p.C70G|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.C70G			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	70					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTTAATAAACTGCAAAAAGCT	0.488																																					p.C70G		Atlas-SNP	.											.	CCR2	103	.	0			c.T208G						PASS	.						199	182	188					3																	46399226		1568	3582	5150	SO:0001583	missense	729230	exon2			ATAAACTGCAAAA		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.208T>G	3.37:g.46399226T>G	ENSP00000383681:p.Cys70Gly	Somatic	380	1	0.00263158		WXS	Illumina HiSeq	Phase_I	353	141	0.399433	NM_001123041	A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712653	0.48517	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.097576	0.46145	D	0.000305	T	0.81403	0.4815	M	0.73430	2.235	0.31410	N	0.675649	D;P	0.76494	0.999;0.851	D;P	0.71184	0.972;0.794	T	0.80899	-0.1176	10	0.25106	T	0.35	.	13.9659	0.64209	0.0:0.0:0.0:1.0	.	70;70	P41597;Q4VBL2	CCR2_HUMAN;.	G	70	ENSP00000399285:C70G;ENSP00000292301:C70G;ENSP00000396736:C70G;ENSP00000383681:C70G	ENSP00000292301:C70G	C	+	1	0	CCR2	46374230	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	1.614000	0.36911	1.774000	0.52232	0.528000	0.53228	TGC	.	.	none		0.488	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		G	46399226	T	G	46399226	3	3	23	1	0	0	0	0	1	0	0	0	2941	1580	55	5	210	5	CCR2	3	46399226	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	18	46399226	151623204	907	17363										
LTF	4057	hgsc.bcm.edu	37	chr3	46496910	46496910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcaccgggaacacagctGgctgagaagaacctggccac	12	13	1	2	rs145526650	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:46496910G>A	ENST00000231751.4	-	5	817	c.522C>T	c.(520-522)gcC>gcT	p.A174A	LTF_ENST00000417439.1_Silent_p.A174A|LTF_ENST00000426532.2_Silent_p.A130A	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	174	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.A174A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GAACACAGCTGGCTGAGAAGA	0.567													G|||	5	0.000998403	0.0008	0.0	5008	,	,		21912	0.0		0.004	False		,,,				2504	0.0				p.A174A		Atlas-SNP	.											LTF,NS,carcinoma,0,1	LTF	98	1	1	Substitution - coding silent(1)	kidney(1)	c.C522T						PASS	.	G	,	5,4401	9.9+/-24.2	0,5,2198	99	80	86		390,522	0.6	0.3	3	dbSNP_134	86	34,8566	23.4+/-69.3	0,34,4266	no	coding-synonymous,coding-synonymous	LTF	NM_001199149.1,NM_002343.3	,	0,39,6464	AA,AG,GG		0.3953,0.1135,0.2999	,	130/667,174/711	46496910	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	4057	exon5			ACAGCTGGCTGAG		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.522C>T	3.37:g.46496910G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	161	80	0.496894	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	CCDS33747.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	10.21	1.287664	0.23478	0.001135	0.003953	ENSG00000012223	ENST00000443743	.	.	.	4.89	0.614	0.17603	.	.	.	.	.	T	0.64057	0.2564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64972	-0.6281	5	0.72032	D	0.01	0.0819	10.0059	0.41957	0.0:0.428:0.4338:0.1382	.	.	.	.	L	107	.	ENSP00000393737:P107L	P	-	2	0	LTF	46471914	0.807000	0.29009	0.279000	0.24732	0.998000	0.95712	1.015000	0.29963	0.190000	0.20209	0.655000	0.94253	CCA	G|0.998;A|0.002	0.002	strong		0.567	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		A	46496910	G	A	46496910	2	1	23	1	0	0	0	0	0	0	0	1	9079	1335	47	2		2	LTF	3	46496910	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	97684	46496910	151525520	908	17364										
PTH1R	5745	hgsc.bcm.edu	37	chr3	46939456	46939456	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatgacttcaatcacaaagGtgaggcctgctggaaggggt	13	7	2	2	rs201472450		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:46939456G>C	ENST00000313049.5	+	4	627		c.e4+1		PTH1R_ENST00000449590.1_Splice_Site|PTH1R_ENST00000490109.1_Splice_Site|PTH1R_ENST00000430002.2_Splice_Site|PTH1R_ENST00000418619.1_Splice_Site			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	AATCACAAAGGTGAGGCCTGC	0.612																																					.		Atlas-SNP	.											.	PTH1R	49	.	0			c.424+1G>C						PASS	.						61	63	62					3																	46939456		2203	4300	6503	SO:0001630	splice_region_variant	5745	exon6			ACAAAGGTGAGGC		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.424+1G>C	3.37:g.46939456G>C		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	147	49	0.333333	NM_000316	Q2M1U3	Splice_Site	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198211	0.79015	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3295	0.83004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTH1R	46914460	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.292000	0.96076	2.448000	0.82819	0.561000	0.74099	.	.	.	weak		0.612	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316	Intron	C	46939456	G	C	46939456	5	2	23	1	0	0	0	0	0	0	1	0	12758	1275	44	4	439	4	PTH1R	3	46939456	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	442546	46939456	151082974	909	17365										
NBEAL2	23218	hgsc.bcm.edu	37	chr3	47036756	47036756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggctagccctggaggccCgctgccaagagcagctgctg	15	14	0	1	rs11720139	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:47036756C>G	ENST00000450053.3	+	13	1710	c.1531C>G	c.(1531-1533)Cgc>Ggc	p.R511G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R511G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	511			R -> G (in dbSNP:rs11720139).		blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGGCCCGCTGCCAAGA	0.657													C|||	1586	0.316693	0.2027	0.3141	5008	,	,		19464	0.3383		0.3936	False		,,,				2504	0.3712				p.R511G		Atlas-SNP	.											NBEAL2_ENST00000450053,NS,carcinoma,0,4	NBEAL2	267	4	0			c.C1531G						PASS	.	C	GLY/ARG	789,3121		86,617,1252	8	10	9		1531	4.5	0.9	3	dbSNP_120	9	2983,5223		583,1817,1703	yes	missense	NBEAL2	NM_015175.1	125	669,2434,2955	GG,GC,CC		36.3515,20.179,31.1324	possibly-damaging	511/2755	47036756	3772,8344	1955	4103	6058	SO:0001583	missense	23218	exon13			GAGGCCCGCTGCC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1531C>G	3.37:g.47036756C>G	ENSP00000415034:p.Arg511Gly	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	61	32	0.52459	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	680	0.31135531135531136	91	0.18495934959349594	105	0.2900552486187845	186	0.32517482517482516	298	0.39313984168865435	C	5.007	0.187024	0.09547	0.20179	0.363515	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.33438	1.41;1.41	4.54	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.311770	0.31685	N	0.007232	T	0.00012	0.0000	N	0.22421	0.69	0.09310	P	1.0	B;B	0.31383	0.321;0.094	B;B	0.26094	0.066;0.041	T	0.47636	-0.9102	9	0.27082	T	0.32	.	11.5906	0.50943	0.1783:0.8216:0.0:0.0	rs11720139;rs58658507;rs11720139	477;511	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	G	511;511;477	ENSP00000292309:R511G;ENSP00000415034:R511G	ENSP00000292309:R511G	R	+	1	0	NBEAL2	47011760	0.414000	0.25408	0.870000	0.34147	0.094000	0.18550	1.491000	0.35583	2.506000	0.84524	0.655000	0.94253	CGC	C|0.687;G|0.313	0.313	strong		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		G	47036756	C	G	47036756	3	3	23	1	0	0	0	0	1	0	0	0	10189	652	23	4	1581	4	NBEAL2	3	47036756	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	97300	47036756	150985674	910	17366										
NBEAL2	23218	hgsc.bcm.edu	37	chr3	47043622	47043622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcgctgctcctggctggtGccactggtgcgcacgctgct	15	14	0	0	rs2305635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:47043622G>A	ENST00000450053.3	+	31	5174	c.4995G>A	c.(4993-4995)gtG>gtA	p.V1665V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.V1481V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1665					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGCTGGTGCCACTGGTGC	0.647													G|||	1603	0.320088	0.2163	0.317	5008	,	,		16773	0.3373		0.3926	False		,,,				2504	0.3701				p.V1665V		Atlas-SNP	.											.	NBEAL2	267	.	0			c.G4995A						PASS	.	G		906,3076		135,636,1220	7	8	8		4995	1.7	1	3	dbSNP_100	8	3067,4923		683,1701,1611	no	coding-synonymous	NBEAL2	NM_015175.1		818,2337,2831	AA,AG,GG		38.3855,22.7524,33.1858		1665/2755	47043622	3973,7999	1991	3995	5986	SO:0001819	synonymous_variant	23218	exon31			GCTGGTGCCACTG	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4995G>A	3.37:g.47043622G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	82	51	0.621951	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	689|689	0.31547619047619047|0.31547619047619047	101|101	0.20528455284552846|0.20528455284552846	105|105	0.2900552486187845|0.2900552486187845	186|186	0.32517482517482516|0.32517482517482516	297|297	0.391820580474934|0.391820580474934	G|G	6.501|6.501	0.460666|0.460666	0.12342|0.12342	0.227524|0.227524	0.383855|0.383855	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.49|4.49	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43972|0.43972	-0.9358|-0.9358	3|3	.|.	.|.	.|.	.|.	4.6581|4.6581	0.12628|0.12628	0.2533:0.0:0.5966:0.1501|0.2533:0.0:0.5966:0.1501	rs2305635;rs17223759;rs2305635|rs2305635;rs17223759;rs2305635	.|.	.|.	.|.	T|Y	34|953	.|.	.|.	A|C	+|+	1|2	0|0	NBEAL2|NBEAL2	47018626|47018626	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.750000|0.750000	0.42670|0.42670	0.763000|0.763000	0.26517|0.26517	0.168000|0.168000	0.19655|0.19655	-0.263000|-0.263000	0.10527|0.10527	GCC|TGC	G|0.685;A|0.315	0.315	strong		0.647	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47043622	G	A	47043622	2	1	23	1	0	0	0	0	0	0	0	1	10189	1306	46	2		2	NBEAL2	3	47043622	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6866	47043622	150978808	911	17367										
PTPN23	25930	hgsc.bcm.edu	37	chr3	47453659	47453659	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattacctgcatcagcggccGctgcacacgcccatcattgt	8	16	2	0	rs147959396	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:47453659G>T	ENST00000265562.4	+	22	4226	c.4149G>T	c.(4147-4149)ccG>ccT	p.P1383P	PTPN23_ENST00000431726.1_Silent_p.P1257P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1383	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCAGCGGCCGCTGCACACGC	0.627													G|||	5	0.000998403	0.0	0.0043	5008	,	,		20941	0.0		0.002	False		,,,				2504	0.0				p.P1383P		Atlas-SNP	.											.	PTPN23	85	.	0			c.G4149T						PASS	.	G		6,4400	11.4+/-27.6	0,6,2197	53	52	53		4149	-1.4	1	3	dbSNP_134	53	35,8565	24.0+/-70.4	0,35,4265	no	coding-synonymous	PTPN23	NM_015466.2		0,41,6462	TT,TG,GG		0.407,0.1362,0.3152		1383/1637	47453659	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	25930	exon22			GCGGCCGCTGCAC	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4149G>T	3.37:g.47453659G>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	259	140	0.540541	NM_015466	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	CCDS2754.1																																																																																			G|0.997;T|0.003	0.003	strong		0.627	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		T	47453659	G	T	47453659	2	4	23	1	0	0	0	0	0	0	0	1	12788	1074	38	4		4	PTPN23	3	47453659	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	410037	47453659	150568771	912	17368										
PLXNB1	5364	hgsc.bcm.edu	37	chr3	48461313	48461313	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcactgctgctacctctgaCggtgacagcggggaggccaa	15	12	1	2	rs2362450	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48461313C>G	ENST00000358536.4	-	11	2651	c.2382G>C	c.(2380-2382)ccG>ccC	p.P794P	PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Silent_p.P794P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	794	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTACCTCTGACGGTGACAGCG	0.657													G|||	2165	0.432308	0.6399	0.3357	5008	,	,		14003	0.3135		0.4652	False		,,,				2504	0.3088				p.P794P		Atlas-SNP	.											PLXNB1,colon,carcinoma,-2,1	PLXNB1	150	1	0			c.G2382C						PASS	.	G	,	2736,1668		872,992,338	13	16	15		2382,2382	3.7	0.8	3	dbSNP_100	15	4083,4505		994,2095,1205	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	1866,3087,1543	GG,GC,CC		47.5431,37.8747,47.5139	,	794/2136,794/2136	48461313	6819,6173	2202	4294	6496	SO:0001819	synonymous_variant	5364	exon11			CTCTGACGGTGAC	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2382G>C	3.37:g.48461313C>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	227	104	0.45815	NM_001130082	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																			C|0.517;G|0.483	0.483	strong		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48461313	C	G	48461313	2	3	23	1	0	0	0	0	0	0	0	1	12123	523	19	4		4	PLXNB1	3	48461313	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1007654	48461313	149561117	913	17369										
CCDC51	79714	hgsc.bcm.edu	37	chr3	48474249	48474249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatgtaccaggcccctcaAgtccaccatgagattgtgga	10	12	1	1	rs2279077	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48474249A>G	ENST00000395694.2	-	4	890	c.805T>C	c.(805-807)Ttg>Ctg	p.L269L	CCDC51_ENST00000447018.1_Silent_p.L160L|CCDC51_ENST00000412398.2_Silent_p.L160L|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000442740.1_Silent_p.L160L|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000395696.1_Silent_p.L269L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	269						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGCCCCTCAAGTCCACCATG	0.607													A|||	1602	0.319888	0.2413	0.2882	5008	,	,		19801	0.3135		0.4632	False		,,,				2504	0.3078				p.L269L		Atlas-SNP	.											.	CCDC51	34	.	0			c.T805C						PASS	.	A		1061,2881		145,771,1055	70	74	73		805	2.3	1	3	dbSNP_100	73	3858,4428		901,2056,1186	no	coding-synonymous	CCDC51	NM_024661.3		1046,2827,2241	GG,GA,AA		46.5605,26.9153,40.2273		269/412	48474249	4919,7309	1971	4143	6114	SO:0001819	synonymous_variant	79714	exon4			CCCTCAAGTCCAC	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.805T>C	3.37:g.48474249A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_024661	Q9HA01	Silent	SNP	ENST00000395694.2	37	CCDS2766.2																																																																																			A|0.636;G|0.364	0.364	strong		0.607	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		G	48474249	A	G	48474249	2	3	23	1	0	0	0	0	0	0	0	1	2821	69	3	3		3	CCDC51	3	48474249	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12936	48474249	149548181	914	17370										
TREX1	11277	hgsc.bcm.edu	37	chr3	48508585	48508585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacggcccaaggaagagctaCagcctaggcagcatctacac	10	14	1	1	rs11797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48508585C>T	ENST00000422277.2	+	1	1357	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Silent_p.Y177Y|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Silent_p.Y167Y|TREX1_ENST00000433541.1_Silent_p.Y38Y|TREX1_ENST00000456089.1_Silent_p.Y38Y|TREX1_ENST00000296443.9_Silent_p.Y177Y	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	232					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAAGAGCTACAGCCTAGGCA	0.607													C|||	1569	0.313299	0.2383	0.2853	5008	,	,		21572	0.3125		0.4433	False		,,,				2504	0.3016				p.Y232Y		Atlas-SNP	.											.	TREX1	17	.	0			c.C696T						PASS	.	C	,	1210,3196	421.9+/-339.5	170,870,1163	62	63	63		696,531	2.7	1	3	dbSNP_52	63	3903,4697	544.3+/-384.6	894,2115,1291	no	coding-synonymous,coding-synonymous	TREX1	NM_016381.3,NM_033629.2	,	1064,2985,2454	TT,TC,CC		45.3837,27.4626,39.3126	,	232/370,177/315	48508585	5113,7893	2203	4300	6503	SO:0001819	synonymous_variant	11277	exon1			GAGCTACAGCCTA	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.696C>T	3.37:g.48508585C>T		Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	141	80	0.567376	NM_016381	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	ENST00000422277.2	37	CCDS43086.1																																																																																			C|0.642;T|0.358	0.358	strong		0.607	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		T	48508585	C	T	48508585	2	4	23	1	0	0	0	0	0	0	0	1	16473	489	17	2		2	TREX1	3	48508585	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	34336	48508585	149513845	915	17371										
TMEM89	440955	hgsc.bcm.edu	37	chr3	48659009	48659009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagatgcggcttgctccagGgcccagccagtagccaggac	14	13	0	1	rs9834639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48659009G>T	ENST00000330862.3	-	1	279	c.181C>A	c.(181-183)Cct>Act	p.P61T		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	61			P -> T (in dbSNP:rs9834639).			integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTGCTCCAGGGCCCAGCCAG	0.652													G|||	549	0.109625	0.2685	0.0937	5008	,	,		14325	0.0228		0.0825	False		,,,				2504	0.0235				p.P61T		Atlas-SNP	.											.	TMEM89	10	.	0			c.C181A						PASS	.	G	THR/PRO	1030,3376	355.6+/-313.1	110,810,1283	54	47	49		181	2.8	0.9	3	dbSNP_119	49	653,7947	157.7+/-211.4	32,589,3679	yes	missense	TMEM89	NM_001008269.1	38	142,1399,4962	TT,TG,GG		7.593,23.3772,12.9402	possibly-damaging	61/160	48659009	1683,11323	2203	4300	6503	SO:0001583	missense	440955	exon1			CTCCAGGGCCCAG	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.181C>A	3.37:g.48659009G>T	ENSP00000329557:p.Pro61Thr	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	182	98	0.538462	NM_001008269		Missense_Mutation	SNP	ENST00000330862.3	37	CCDS33751.1	236	0.10805860805860806	123	0.25	31	0.0856353591160221	19	0.033216783216783216	63	0.08311345646437995	G	12.61	1.990025	0.35131	0.233772	0.07593	ENSG00000183396	ENST00000330862	T	0.41400	1.0	4.7	2.84	0.33178	.	0.841083	0.09976	N	0.731570	T	0.00012	0.0000	N	0.22421	0.69	0.43517	P	0.004214999999999969	B	0.21452	0.056	B	0.20384	0.029	T	0.17899	-1.0354	9	0.59425	D	0.04	-4.1779	7.6057	0.28101	0.0:0.1817:0.6301:0.1883	rs9834639;rs58298641;rs9834639	61	A2RUT3	TMM89_HUMAN	T	61	ENSP00000329557:P61T	ENSP00000329557:P61T	P	-	1	0	TMEM89	48634013	0.989000	0.36119	0.922000	0.36590	0.007000	0.05969	1.725000	0.38074	0.547000	0.28938	0.462000	0.41574	CCT	G|0.878;T|0.122	0.122	strong		0.652	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		T	48659009	G	T	48659009	3	4	23	1	0	0	0	0	1	0	0	0	16210	1232	43	4	305	4	TMEM89	3	48659009	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	150424	48659009	149363421	916	17372										
SLC26A6	65010	hgsc.bcm.edu	37	chr3	48669447	48669447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgacaggtaggtgaccaCgaagccgaagtggatcaggc	14	9	2	2	rs13324142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48669447C>T	ENST00000395550.2	-	6	663	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R171H|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000358747.6_Missense_Mutation_p.V185M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V206M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V206M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	206			V -> M (in dbSNP:rs13324142). {ECO:0000269|PubMed:11247665}.		angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TAGGTGACCACGAAGCCGAAG	0.607													C|||	555	0.110823	0.1641	0.0821	5008	,	,		21000	0.127		0.1123	False		,,,				2504	0.0409				p.V206M	NSCLC(13;369 479 28271 30152 44026)	Atlas-SNP	.											.	SLC26A6	45	.	0			c.G616A	GRCh37	CM086000	SLC26A6	M	rs13324142	PASS	.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	586,3494		38,510,1492	63	71	68		553,616,616,616	3	0.7	3	dbSNP_121	68	903,7451		58,787,3332	yes	missense,missense,missense,missense	SLC26A6	NM_001040454.1,NM_022911.2,NM_134263.2,NM_134426.2	21,21,21,21	96,1297,4824	TT,TC,CC		10.8092,14.3627,11.9752	probably-damaging,probably-damaging,probably-damaging,probably-damaging	185/739,206/760,206/759,206/741	48669447	1489,10945	2040	4177	6217	SO:0001583	missense	65010	exon6			TGACCACGAAGCC	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.616G>A	3.37:g.48669447C>T	ENSP00000378920:p.Val206Met	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	172	73	0.424419	NM_022911	B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	CCDS43087.1	253|253	0.11584249084249085|0.11584249084249085	76|76	0.15447154471544716|0.15447154471544716	28|28	0.07734806629834254|0.07734806629834254	63|63	0.11013986013986014|0.11013986013986014	86|86	0.11345646437994723|0.11345646437994723	C|C	17.64|17.64	3.439539|3.439539	0.63067|0.63067	0.143627|0.143627	0.108092|0.108092	ENSG00000225697|ENSG00000225697	ENST00000455886;ENST00000431739|ENST00000420764;ENST00000395550;ENST00000383733;ENST00000447978;ENST00000358747;ENST00000421649	D;D|D;D;D;D;D	0.92647|0.93604	-3.08;-2.72|-3.25;-3.25;-3.25;-3.25;-3.25	4.78|4.78	2.98|2.98	0.34508|0.34508	.|Sulphate transporter (1);	.|.	.|.	.|.	.|.	T|T	0.21227|0.21227	0.0511|0.0511	M|M	0.93808|0.93808	3.46|3.46	0.36497|0.36497	P|P	0.13119400000000003|0.13119400000000003	B|P;D;D;D;D	0.22604|0.76494	0.072|0.802;0.994;0.998;0.998;0.999	B|P;D;D;D;D	0.12837|0.68353	0.008|0.482;0.916;0.931;0.931;0.957	T|T	0.60286|0.60286	-0.7293|-0.7293	8|8	0.87932|0.87932	D|D	0|0	.|.	11.7948|11.7948	0.52093|0.52093	0.0:0.6963:0.2341:0.0696|0.0:0.6963:0.2341:0.0696	rs13324142;rs57651294;rs13324142|rs13324142;rs57651294;rs13324142	171|219;206;206;206;3611	B4DMZ1|Q86YZ4;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.|.;.;.;S26A6_HUMAN;.	H|M	171;155|206;206;206;219;185;52	ENSP00000401066:R171H;ENSP00000401813:R155H|ENSP00000404684:V206M;ENSP00000378920:V206M;ENSP00000373239:V206M;ENSP00000351597:V185M;ENSP00000389922:V52M	ENSP00000401813:R155H|ENSP00000351597:V185M	R|V	-|-	2|1	0|0	SLC26A6|SLC26A6	48644451|48644451	0.974000|0.974000	0.33945|0.33945	0.655000|0.655000	0.29622|0.29622	0.818000|0.818000	0.46254|0.46254	2.430000|2.430000	0.44766|0.44766	0.233000|0.233000	0.21120|0.21120	-1.255000|-1.255000	0.01485|0.01485	CGT|GTG	C|0.888;T|0.112	0.112	strong		0.607	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		T	48669447	C	T	48669447	3	4	23	1	0	0	0	0	1	0	0	0	14521	536	19	1	1763	1	SLC26A6	3	48669447	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10438	48669447	149352983	917	17373										
CELSR3	1951	hgsc.bcm.edu	37	chr3	48681053	48681053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtggttgactgccaggagCccaaagagccaggaggcact	14	11	0	2	rs9868809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48681053C>T	ENST00000164024.4	-	28	8503	c.8223G>A	c.(8221-8223)ggG>ggA	p.G2741G	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.G2746G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2741					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2741G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGCCAGGAGCCCAAAGAGCC	0.612													C|||	563	0.11242	0.1687	0.0821	5008	,	,		18351	0.128		0.1133	False		,,,				2504	0.0409				p.G2741G		Atlas-SNP	.											CELSR3,NS,carcinoma,0,1	CELSR3	237	1	1	Substitution - coding silent(1)	stomach(1)	c.G8223A						PASS	.	C		599,3687		36,527,1580	81	65	71		8223	-2	1	3	dbSNP_119	71	845,7497		51,743,3377	no	coding-synonymous	CELSR3	NM_001407.2		87,1270,4957	TT,TC,CC		10.1295,13.9757,11.4349		2741/3313	48681053	1444,11184	2143	4171	6314	SO:0001819	synonymous_variant	1951	exon28			CAGGAGCCCAAAG	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8223G>A	3.37:g.48681053C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	92	44	0.478261	NM_001407	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																			C|0.880;T|0.120	0.120	strong		0.612	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48681053	C	T	48681053	2	4	23	1	0	0	0	0	0	0	0	1	3223	726	26	2		2	CELSR3	3	48681053	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11606	48681053	149341377	918	17374										
CELSR3	1951	hgsc.bcm.edu	37	chr3	48691316	48691316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgctgcccacttactaagcTgacagtctttgccgccgaag	9	13	1	1	rs12107252	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48691316T>C	ENST00000164024.4	-	8	5553	c.5273A>G	c.(5272-5274)cAg>cGg	p.Q1758R	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q1758R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1758	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		Q -> R (in dbSNP:rs12107252).		axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTACTAAGCTGACAGTCTTT	0.597													c|||	1049	0.209465	0.5076	0.1254	5008	,	,		19198	0.1181		0.1292	False		,,,				2504	0.0429				p.Q1758R		Atlas-SNP	.											.	CELSR3	237	.	0			c.A5273G						PASS	.		ARG/GLN	1949,2457	595.4+/-388.4	430,1089,684	50	64	59		5273	3.5	1	3	dbSNP_120	59	1075,7525	762.9+/-407.6	73,929,3298	yes	missense	CELSR3	NM_001407.2	43	503,2018,3982	CC,CT,TT		12.5,44.2351,23.2508	benign	1758/3313	48691316	3024,9982	2203	4300	6503	SO:0001583	missense	1951	exon8			CTAAGCTGACAGT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5273A>G	3.37:g.48691316T>C	ENSP00000164024:p.Gln1758Arg	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	208	108	0.519231	NM_001407	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	446	0.2042124542124542	246	0.5	44	0.12154696132596685	60	0.1048951048951049	96	0.1266490765171504	c	6.222	0.409163	0.11812	0.442351	0.125	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79247	-1.25;-1.25	5.24	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.55103	1.725	0.18873	P	0.9999837373	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41610	-0.9499	8	0.13853	T	0.58	.	10.6341	0.45554	0.0:0.7918:0.0:0.2082	rs12107252;rs58448451;rs12107252	1758;1828	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	R	1758	ENSP00000164024:Q1758R;ENSP00000445694:Q1758R	ENSP00000164024:Q1758R	Q	-	2	0	CELSR3	48666320	0.038000	0.19896	0.997000	0.53966	0.535000	0.34838	0.600000	0.24104	0.328000	0.23435	-0.751000	0.03497	CAG	T|0.781;C|0.219	0.219	strong		0.597	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		C	48691316	T	C	48691316	3	2	23	1	0	0	0	0	1	0	0	0	3223	1580	55	3	4777	3	CELSR3	3	48691316	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10263	48691316	149331114	919	17375										
CELSR3	1951	hgsc.bcm.edu	37	chr3	48699519	48699519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccgctgggaggacaccggCttgggaccgtggtgccgaat	16	11	0	0	rs3733086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48699519C>T	ENST00000164024.4	-	1	829	c.549G>A	c.(547-549)aaG>aaA	p.K183K	CELSR3_ENST00000544264.1_Silent_p.K183K|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	183					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGACACCGGCTTGGGACCGT	0.647													C|||	499	0.0996406	0.1271	0.0793	5008	,	,		14171	0.1171		0.1173	False		,,,				2504	0.0409				p.K183K		Atlas-SNP	.											.	CELSR3	237	.	0			c.G549A						PASS	.	C		577,3823		26,525,1649	44	53	50		549	4.3	0.1	3	dbSNP_107	50	998,7596		60,878,3359	no	coding-synonymous	CELSR3	NM_001407.2		86,1403,5008	TT,TC,CC		11.6128,13.1136,12.121		183/3313	48699519	1575,11419	2200	4297	6497	SO:0001819	synonymous_variant	1951	exon1			CACCGGCTTGGGA	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.549G>A	3.37:g.48699519C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	76	33	0.434211	NM_001407	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																			C|0.885;T|0.115	0.115	strong		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48699519	C	T	48699519	2	4	23	1	0	0	0	0	0	0	0	1	3223	796	28	2		2	CELSR3	3	48699519	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8203	48699519	149322911	920	17376										
NCKIPSD	51517	hgsc.bcm.edu	37	chr3	48717276	48717276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggacagactcgaactcGtttctcttgcacattttctt	7	12	2	1	rs562394435		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48717276G>A	ENST00000294129.2	-	7	1427	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	NCKIPSD_ENST00000416649.2_Silent_p.N429N|NCKIPSD_ENST00000341520.4_Silent_p.N436N	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	436					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTCGAACTCGTTTCTCTTGC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		24484	0.0		0.0	False		,,,				2504	0.001				p.N436N		Atlas-SNP	.											.	NCKIPSD	52	.	0			c.C1308T						PASS	.						138	123	128					3																	48717276		2203	4300	6503	SO:0001819	synonymous_variant	51517	exon7			GAACTCGTTTCTC	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1308C>T	3.37:g.48717276G>A		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	123	67	0.544715	NM_016453	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	5.849	0.340768	0.11069	.	.	ENSG00000213672	ENST00000415281	.	.	.	5.2	-3.89	0.04193	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2642	0.54668	0.5461:0.0:0.4539:0.0	.	.	.	.	X	172	.	.	R	-	1	2	NCKIPSD	48692280	0.845000	0.29573	0.068000	0.19968	0.913000	0.54294	-0.007000	0.12810	-1.032000	0.03304	-1.326000	0.01283	CGA	.	.	none		0.522	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		A	48717276	G	A	48717276	2	1	23	1	0	0	0	0	0	0	0	1	10225	1136	40	1		1	NCKIPSD	3	48717276	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17757	48717276	149305154	921	17377										
IP6K2	51447	hgsc.bcm.edu	37	chr3	48725707	48725707	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actggagcagctagcaagctCactccccactctcctcactt	6	17	3	0	rs1048940	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48725707C>T	ENST00000328631.5	-	6	1503	c.1280G>A	c.(1279-1281)tGa>tAa	p.*427*	NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	0					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTAGCAAGCTCACTCCCCACT	0.582													C|||	150	0.0299521	0.0023	0.0504	5008	,	,		19809	0.0		0.1014	False		,,,				2504	0.0102				p.X427X		Atlas-SNP	.											.	IP6K2	63	.	0			c.G1280A						PASS	.	C	,	93,4313	77.3+/-115.6	0,93,2110	116	114	115		1280,1280	4.4	1	3	dbSNP_86	115	812,7788	189.4+/-236.2	41,730,3529	no	coding-synonymous,coding-synonymous	IP6K2	NM_001005909.2,NM_016291.3	,	41,823,5639	TT,TC,CC		9.4419,2.1108,6.9583	,	427/427,427/427	48725707	905,12101	2203	4300	6503	SO:0001819	synonymous_variant	51447	exon6			CAAGCTCACTCCC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.1280G>A	3.37:g.48725707C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	201	95	0.472637	NM_016291	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	ENST00000328631.5	37	CCDS2777.1																																																																																			T|0.062;G|0.000;C|0.937	0.062	strong		0.582	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		T	48725707	C	T	48725707	2	4	23	1	0	0	0	0	0	0	0	1	7789	837	29	2		2	IP6K2	3	48725707	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8431	48725707	149296723	922	17378										
IP6K2	51447	hgsc.bcm.edu	37	chr3	48732480	48732480	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catggccacgatctctcacaTctcctcgccagtgtggcaac	8	16	3	0	rs17080319	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:48732480T>C	ENST00000328631.5	-	2	426				IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.D82G|IP6K2_ENST00000431721.2_Missense_Mutation_p.D137G|IP6K2_ENST00000443964.1_Missense_Mutation_p.D141G|IP6K2_ENST00000446860.1_Missense_Mutation_p.D140G|IP6K2_ENST00000453202.1_Missense_Mutation_p.D82G|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.D82G	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ATCTCTCACATCTCCTCGCCA	0.597													T|||	604	0.120607	0.2549	0.0893	5008	,	,		18551	0.0486		0.1243	False		,,,				2504	0.0317				p.D140G		Atlas-SNP	.											.	IP6K2	63	.	0			c.A419G						PASS	.	T	,,,,,GLY/ASP,GLY/ASP,	956,3450	362.1+/-316.0	92,772,1339	48	45	46		,,,,,410,419,	-1.1	0	3	dbSNP_123	46	1077,7523	225.4+/-261.5	69,939,3292	yes	intron,intron,intron,intron,intron,missense,missense,intron	IP6K2	NM_001005909.2,NM_001005910.2,NM_001005911.2,NM_001146178.2,NM_001146179.2,NM_001190316.1,NM_001190317.1,NM_016291.3	,,,,,94,94,	161,1711,4631	CC,CT,TT		12.5233,21.6977,15.6312	,,,,,,,	,,,,,137/186,140/189,	48732480	2033,10973	2203	4300	6503	SO:0001627	intron_variant	51447	exon3			CTCACATCTCCTC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+42A>G	3.37:g.48732480T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	98	49	0.5	NM_001190317	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	CCDS2777.1	289	0.13232600732600733	122	0.24796747967479674	33	0.09116022099447514	38	0.06643356643356643	96	0.1266490765171504	T	14.24	2.475785	0.44044	0.216977	0.125233	ENSG00000068745	ENST00000431721;ENST00000449610;ENST00000446860;ENST00000417896;ENST00000443964;ENST00000453202	T;T;T;T;T;T	0.55234	0.53;0.58;0.53;0.58;0.53;0.58	4.55	-1.12	0.09808	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.23762	-1.0179	8	0.56958	D	0.05	.	0.4297	0.00469	0.1829:0.2606:0.1888:0.3677	rs17080319;rs17080319	140;136;137	B4E3G6;A8K636;A8K3B1	.;.;.	G	137;82;140;82;141;82	ENSP00000414139:D137G;ENSP00000393077:D82G;ENSP00000399052:D140G;ENSP00000388116:D82G;ENSP00000410950:D141G;ENSP00000387394:D82G	ENSP00000388116:D82G	D	-	2	0	IP6K2	48707484	0.000000	0.05858	0.000000	0.03702	0.521000	0.34408	-0.250000	0.08830	-0.036000	0.13669	0.164000	0.16699	GAT	A|0.000;C|0.134;T|0.866	0.134	strong		0.597	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		C	48732480	T	C	48732480	1	2	23	0	1	0	0	0	0	0	0	0	7789	1435	50	2		2	IP6K2	3	48732480	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6773	48732480	149289950	923	17379										
QRICH1	54870	hgsc.bcm.edu	37	chr3	49067904	49067904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagtgcatagtgcttgcaTtggccactgcgatggcctcc	11	13	1	0	rs61729488	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49067904T>C	ENST00000395443.2	-	10	2784	c.2312A>G	c.(2311-2313)aAt>aGt	p.N771S	QRICH1_ENST00000479449.1_5'Flank|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000357496.2_Missense_Mutation_p.N771S|QRICH1_ENST00000424300.1_Missense_Mutation_p.N771S|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	771						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTGCTTGCATTGGCCACTGC	0.498													T|||	226	0.0451278	0.0023	0.0648	5008	,	,		16622	0.0258		0.1123	False		,,,				2504	0.0399				p.N771S		Atlas-SNP	.											.	QRICH1	48	.	0			c.A2312G						PASS	.	T	SER/ASN,SER/ASN	95,4311	78.3+/-116.7	0,95,2108	71	66	68		2312,2312	-7.8	0	3	dbSNP_129	68	897,7703	201.8+/-245.2	46,805,3449	yes	missense,missense	QRICH1	NM_017730.2,NM_198880.1	46,46	46,900,5557	CC,CT,TT		10.4302,2.1562,7.6272	benign,benign	771/777,771/777	49067904	992,12014	2203	4300	6503	SO:0001583	missense	54870	exon10			CTTGCATTGGCCA		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2312A>G	3.37:g.49067904T>C	ENSP00000378830:p.Asn771Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	136	0.06227106227106227	3	0.006097560975609756	28	0.07734806629834254	21	0.03671328671328671	84	0.11081794195250659	T	8.934	0.964142	0.18583	0.021562	0.104302	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.51	-7.76	0.01232	.	0.621497	0.19226	N	0.119548	T	0.00328	0.0010	N	0.02011	-0.69	0.50813	P	1.0500000000002174E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.10543	-1.0625	8	0.13470	T	0.59	0.0377	18.0993	0.89500	0.0:0.6291:0.0:0.3709	.	771	Q2TAL8	QRIC1_HUMAN	S	771	.	ENSP00000350094:N771S	N	-	2	0	QRICH1	49042908	0.001000	0.12720	0.005000	0.12908	0.987000	0.75469	-0.223000	0.09177	-1.548000	0.01712	-0.256000	0.11100	AAT	T|0.927;C|0.073	0.073	strong		0.498	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49067904	T	C	49067904	3	2	23	1	0	0	0	0	1	0	0	0	12879	1493	52	2	22	2	QRICH1	3	49067904	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	335424	49067904	148954526	924	17380										
QARS	5859	hgsc.bcm.edu	37	chr3	49141116	49141116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaccaggagctggggccgGtgcctgttaatagcagcctc	13	13	0	0	rs5030795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49141116G>A	ENST00000306125.6	-	4	736	c.399C>T	c.(397-399)caC>caT	p.H133H	QARS_ENST00000420147.2_Silent_p.H151H|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.H122H			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	133					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCTGGGGCCGGTGCCTGTTAA	0.547													G|||	265	0.0529153	0.0076	0.0648	5008	,	,		18745	0.0506		0.1153	False		,,,				2504	0.044				p.H133H		Atlas-SNP	.											.	QARS	55	.	0			c.C399T						PASS	.	G		107,4299	82.9+/-121.4	0,107,2096	30	33	32		399	2.7	0.8	3	dbSNP_113	32	927,7673	202.8+/-246.0	51,825,3424	no	coding-synonymous	QARS	NM_005051.1		51,932,5520	AA,AG,GG		10.7791,2.4285,7.9502		133/776	49141116	1034,11972	2203	4300	6503	SO:0001819	synonymous_variant	5859	exon4			GGGCCGGTGCCTG	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.399C>T	3.37:g.49141116G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	98	47	0.479592	NM_005051	B4DWJ2	Silent	SNP	ENST00000306125.6	37	CCDS2788.1																																																																																			G|0.924;A|0.076	0.076	strong		0.547	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		A	49141116	G	A	49141116	2	1	23	1	0	0	0	0	0	0	0	1	12871	1252	44	2		2	QARS	3	49141116	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	73212	49141116	148881314	925	17381										
USP19	10869	hgsc.bcm.edu	37	chr3	49156473	49156473	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctttcctaggatctccatCcttgctctcctggtttgctc	6	15	2	0	rs11552724	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49156473C>G	ENST00000398888.2	-	2	424	c.106G>C	c.(106-108)Gat>Cat	p.D36H	USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.D36H|USP19_ENST00000453664.1_Missense_Mutation_p.D36H|USP19_ENST00000398896.1_5'Flank|USP19_ENST00000417901.1_Missense_Mutation_p.D36H|USP19_ENST00000398892.3_Missense_Mutation_p.D36H|USP19_ENST00000434032.2_Missense_Mutation_p.D36H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	36			D -> H (in dbSNP:rs11552724).		ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGATCTCCATCCTTGCTCTCC	0.552													C|||	266	0.053115	0.0083	0.0648	5008	,	,		18934	0.0496		0.1153	False		,,,				2504	0.045				p.D36H		Atlas-SNP	.											.	USP19	158	.	0			c.G106C						PASS	.	C	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	86,3914		0,86,1914	206	224	218		106,106,106,106	3	1	3	dbSNP_120	218	886,7452		49,788,3332	yes	missense,missense,missense,missense	USP19	NM_001199160.1,NM_001199161.1,NM_001199162.1,NM_006677.2	81,81,81,81	49,874,5246	GG,GC,CC		10.626,2.15,7.8781	benign,benign,benign,benign	36/1420,36/1385,36/1373,36/1319	49156473	972,11366	2000	4169	6169	SO:0001583	missense	10869	exon2			CTCCATCCTTGCT	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.106G>C	3.37:g.49156473C>G	ENSP00000381863:p.Asp36His	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	187	79	0.42246	NM_001199160	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	159	0.07280219780219781	4	0.008130081300813009	28	0.07734806629834254	40	0.06993006993006994	87	0.11477572559366754	C	18.29	3.590425	0.66219	0.0215	0.10626	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T	0.34072	1.91;2.07;2.07;1.91;2.06;2.07;1.38	5.73	3.02	0.34903	.	0.702916	0.14102	N	0.341312	T	0.00845	0.0028	N	0.19112	0.55	0.31634	P	0.648713	P;P;P;B;P	0.49090	0.684;0.498;0.498;0.437;0.919	P;B;B;B;P	0.59171	0.453;0.369;0.369;0.278;0.853	T	0.15665	-1.0429	9	0.72032	D	0.01	-6.184	10.8902	0.46992	0.0:0.8012:0.0:0.1988	rs11552724;rs13094868;rs52801489;rs11552724	99;36;36;36;36	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2	.;.;.;UBP19_HUMAN;.	H	36	ENSP00000381872:D36H;ENSP00000395260:D36H;ENSP00000400090:D36H;ENSP00000381867:D36H;ENSP00000381863:D36H;ENSP00000401197:D36H;ENSP00000303503:D36H	ENSP00000303503:D36H	D	-	1	0	USP19	49131477	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.247000	0.58750	0.367000	0.24454	0.655000	0.94253	GAT	C|0.905;G|0.095	0.095	strong		0.552	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		G	49156473	C	G	49156473	3	3	23	1	0	0	0	0	1	0	0	0	17047	855	30	4	3950	4	USP19	3	49156473	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15357	49156473	148865957	926	17382										
C3orf62	375341	hgsc.bcm.edu	37	chr3	49313978	49313978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggttagaggttttctctCggggcacagagcatgtggtt	15	7	1	2	rs13077498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49313978C>T	ENST00000343010.3	-	1	1364	c.328G>A	c.(328-330)Gag>Aag	p.E110K	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	110			E -> K (in dbSNP:rs13077498).							breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTTTTCTCTCGGGGCACAGA	0.493													C|||	326	0.0650958	0.059	0.0706	5008	,	,		20835	0.0417		0.1133	False		,,,				2504	0.044				p.E110K		Atlas-SNP	.											.	C3orf62	23	.	0			c.G328A						PASS	.	C	LYS/GLU	384,4022	194.0+/-219.0	12,360,1831	135	130	132		328	-7.3	0	3	dbSNP_121	132	932,7668	206.6+/-248.6	52,828,3420	yes	missense	C3orf62	NM_198562.2	56	64,1188,5251	TT,TC,CC		10.8372,8.7154,10.1184	benign	110/268	49313978	1316,11690	2203	4300	6503	SO:0001583	missense	375341	exon1			TTCTCTCGGGGCA	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.328G>A	3.37:g.49313978C>T	ENSP00000341139:p.Glu110Lys	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	189	82	0.433862	NM_198562	Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	CCDS2792.1	187	0.08562271062271062	33	0.06707317073170732	33	0.09116022099447514	35	0.06118881118881119	86	0.11345646437994723	C	8.379	0.837036	0.16891	0.087154	0.108372	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.37915	1.17;1.17	4.75	-7.32	0.01436	.	0.724870	0.12413	N	0.471107	T	0.00210	0.0006	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	9	0.02654	T	1	-0.1717	13.4186	0.60982	0.0:0.0827:0.7423:0.175	rs13077498;rs52829775;rs13077498	110	Q6ZUJ4	CC062_HUMAN	K	110;108	ENSP00000341139:E110K;ENSP00000413663:E108K	ENSP00000341139:E110K	E	-	1	0	C3orf62	49288982	0.000000	0.05858	0.001000	0.08648	0.798000	0.45092	-1.271000	0.02828	-1.626000	0.01552	-1.078000	0.02229	GAG	C|0.907;T|0.093	0.093	strong		0.493	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		T	49313978	C	T	49313978	3	4	23	1	0	0	0	0	1	0	0	0	2238	893	31	1	487	1	C3orf62	3	49313978	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	157505	49313978	148708452	927	17383										
USP4	7375	hgsc.bcm.edu	37	chr3	49343175	49343175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcgaggtgccacatgggcGtcccttccagaccacatctg	11	14	1	1	rs2230929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49343175G>A	ENST00000265560.4	-	9	1147	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	USP4_ENST00000351842.4_Silent_p.D320D|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	367	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D367D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCACATGGGCGTCCCTTCCAG	0.468													G|||	459	0.0916534	0.0651	0.098	5008	,	,		19901	0.0546		0.1968	False		,,,				2504	0.0532				p.D367D		Atlas-SNP	.											USP4,NS,carcinoma,0,1	USP4	72	1	1	Substitution - coding silent(1)	stomach(1)	c.C1101T						PASS	.	G	,	426,3980	207.5+/-228.8	17,392,1794	113	99	104		1101,960	-11.4	0	3	dbSNP_98	104	1491,7109	283.7+/-296.3	132,1227,2941	no	coding-synonymous,coding-synonymous	USP4	NM_003363.3,NM_199443.2	,	149,1619,4735	AA,AG,GG		17.3372,9.6686,14.7394	,	367/964,320/917	49343175	1917,11089	2203	4300	6503	SO:0001819	synonymous_variant	7375	exon9			ATGGGCGTCCCTT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1101C>T	3.37:g.49343175G>A		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	219	112	0.511416	NM_003363	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	279	0.12774725274725274	36	0.07317073170731707	50	0.13812154696132597	41	0.07167832167832168	152	0.20052770448548812	G	4.516	0.095814	0.08681	0.096686	0.173372	ENSG00000114316	ENST00000431357	.	.	.	5.92	-11.4	0.00090	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.19775	P	0.9999511744	.	.	.	.	.	.	T	0.30937	-0.9961	3	.	.	.	-12.157	16.2274	0.82306	0.18:0.1428:0.6772:0.0	rs2230929;rs11130188;rs11130188	.	.	.	C	124	.	.	R	-	1	0	USP4	49318179	0.000000	0.05858	0.000000	0.03702	0.717000	0.41224	-0.668000	0.05268	-2.469000	0.00531	-2.040000	0.00418	CGC	G|0.864;C|0.000;A|0.136	0.136	strong		0.468	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		A	49343175	G	A	49343175	2	1	23	1	0	0	0	0	0	0	0	1	17068	1136	40	1		1	USP4	3	49343175	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	29197	49343175	148679255	928	17384										
AMT	275	hgsc.bcm.edu	37	chr3	49455330	49455330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacatcaaccccacacgcctCcgctgcaccctgcccttcag	5	22	2	0	rs11715915	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49455330C>T	ENST00000273588.3	-	8	1256	c.954G>A	c.(952-954)cgG>cgA	p.R318R	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Silent_p.R262R|AMT_ENST00000395338.2_Silent_p.R318R|AMT_ENST00000546031.1_Silent_p.R221R|AMT_ENST00000458307.2_Silent_p.R274R	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	318					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CCACACGCCTCCGCTGCACCC	0.602													C|||	1008	0.201278	0.2126	0.17	5008	,	,		18422	0.0734		0.336	False		,,,				2504	0.2014				p.R318R		Atlas-SNP	.											.	AMT	22	.	0			c.G954A						PASS	.	C	,,,	1061,3345	382.3+/-324.4	127,807,1269	43	43	43		954,822,786,954	2.7	1	3	dbSNP_120	43	2697,5903	427.7+/-355.7	449,1799,2052	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMT	NM_000481.3,NM_001164710.1,NM_001164711.1,NM_001164712.1	,,,	576,2606,3321	TT,TC,CC		31.3605,24.0808,28.8944	,,,	318/404,274/360,262/348,318/387	49455330	3758,9248	2203	4300	6503	SO:0001819	synonymous_variant	275	exon8			ACGCCTCCGCTGC	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.954G>A	3.37:g.49455330C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	84	43	0.511905	NM_001164712	A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	CCDS2797.1	513	0.2348901098901099	123	0.25	81	0.22375690607734808	51	0.08916083916083917	258	0.3403693931398417	C	9.326	1.059402	0.19987	0.240808	0.313605	ENSG00000145020	ENST00000427987	.	.	.	4.77	2.73	0.32206	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999197068	.	.	.	.	.	.	T	0.39143	-0.9628	3	.	.	.	-7.9714	6.953	0.24556	0.2441:0.6572:0.0:0.0987	rs11715915;rs11715915	.	.	.	K	316	.	.	E	-	1	0	AMT	49430334	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.849000	0.27723	1.011000	0.39340	0.462000	0.41574	GAG	C|0.736;T|0.264	0.264	strong		0.602	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		T	49455330	C	T	49455330	2	4	23	1	0	0	0	0	0	0	0	1	589	842	30	2		2	AMT	3	49455330	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	112155	49455330	148567100	929	17385										
DAG1	1605	hgsc.bcm.edu	37	chr3	49570200	49570200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggatgatgtctacctgcaCacagtcattccggccgtggt	12	11	2	1	rs1801143	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49570200C>T	ENST00000539901.1	+	3	2814	c.2256C>T	c.(2254-2256)caC>caT	p.H752H	DAG1_ENST00000515359.2_Silent_p.H752H|DAG1_ENST00000545947.1_Silent_p.H752H|DAG1_ENST00000541308.1_Silent_p.H752H|DAG1_ENST00000308775.2_Silent_p.H752H|DAG1_ENST00000538711.1_Silent_p.H752H	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	752					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTACCTGCACACAGTCATTC	0.592													C|||	1081	0.215855	0.2693	0.1744	5008	,	,		19791	0.0724		0.333	False		,,,				2504	0.2004				p.H752H		Atlas-SNP	.											.	DAG1	60	.	0			c.C2256T						PASS	.	C	,,,,,,,,,,,,	1276,3130	434.1+/-343.8	180,916,1107	51	45	47		2256,2256,2256,2256,2256,2256,2256,2256,2256,2256,2256,2256,2256	1.8	1	3	dbSNP_89	47	2699,5901	432.2+/-357.0	450,1799,2051	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DAG1	NM_001165928.2,NM_001177634.1,NM_001177635.1,NM_001177636.1,NM_001177637.1,NM_001177638.1,NM_001177639.1,NM_001177640.1,NM_001177641.1,NM_001177642.1,NM_001177643.1,NM_001177644.1,NM_004393.4	,,,,,,,,,,,,	630,2715,3158	TT,TC,CC		31.3837,28.9605,30.5628	,,,,,,,,,,,,	752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896,752/896	49570200	3975,9031	2203	4300	6503	SO:0001819	synonymous_variant	1605	exon4			CCTGCACACAGTC	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2256C>T	3.37:g.49570200C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_001177642	A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	37	CCDS2799.1																																																																																			C|0.722;T|0.278	0.278	strong		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			T	49570200	C	T	49570200	2	4	23	1	0	0	0	0	0	0	0	1	4225	477	17	2		2	DAG1	3	49570200	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	114870	49570200	148452230	930	17386										
BSN	8927	hgsc.bcm.edu	37	chr3	49690496	49690496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaccaaccgagacaccctcCggcagctccaccactcccag	6	21	1	1	rs11709525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49690496C>T	ENST00000296452.4	+	5	3621	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1169					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)		AGACACCCTCCGGCAGCTCCA	0.602													C|||	1039	0.207468	0.2632	0.1657	5008	,	,		19657	0.0565		0.3241	False		,,,				2504	0.1973				p.S1169S		Atlas-SNP	.											BSN,NS,carcinoma,0,1	BSN	272	1	0			c.C3507T						scavenged	.	C		1179,3227	381.6+/-324.1	150,879,1174	33	35	35		3507	-9.8	0	3	dbSNP_120	35	2556,6044	384.5+/-341.1	405,1746,2149	no	coding-synonymous	BSN	NM_003458.3		555,2625,3323	TT,TC,CC		29.7209,26.759,28.7175		1169/3927	49690496	3735,9271	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon5			ACCCTCCGGCAGC	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.3507C>T	3.37:g.49690496C>T		Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	103	59	0.572816	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			C|0.731;G|0.000;T|0.269	0.269	strong		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49690496	C	T	49690496	2	4	23	1	0	0	0	0	0	0	0	1	1530	639	23	1		1	BSN	3	49690496	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	120296	49690496	148331934	931	17387										
BSN	8927	hgsc.bcm.edu	37	chr3	49690627	49690627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggggcccggggaccccatgGcggcccctctcagcccacag	14	18	1	0	rs35762866	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49690627G>A	ENST00000296452.4	+	5	3752	c.3638G>A	c.(3637-3639)gGc>gAc	p.G1213D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1213			G -> D (in dbSNP:rs35762866).		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)		GGACCCCATGGCGGCCCCTCT	0.657													G|||	184	0.0367412	0.0015	0.0764	5008	,	,		14865	0.0		0.1064	False		,,,				2504	0.0225				p.G1213D		Atlas-SNP	.											.	BSN	272	.	0			c.G3638A						PASS	.	G	ASP/GLY	94,4272		2,90,2091	12	15	14		3638	1	0	3	dbSNP_126	14	957,7609		49,859,3375	no	missense	BSN	NM_003458.3	94	51,949,5466	AA,AG,GG		11.1721,2.153,8.1271	probably-damaging	1213/3927	49690627	1051,11881	2183	4283	6466	SO:0001583	missense	8927	exon5			CCCATGGCGGCCC	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.3638G>A	3.37:g.49690627G>A	ENSP00000296452:p.Gly1213Asp	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	47	25	0.531915	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	105	0.04807692307692308	3	0.006097560975609756	21	0.058011049723756904	0	0.0	81	0.10686015831134564	G	9.470	1.095325	0.20471	0.02153	0.111721	ENSG00000164061	ENST00000296452	T	0.20200	2.09	5.12	1.05	0.20165	.	0.430079	0.24516	N	0.037853	T	0.00300	0.0009	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31586	-0.9938	10	0.12766	T	0.61	.	10.6173	0.45458	0.0695:0.3747:0.5558:0.0	rs35762866	1213	Q9UPA5	BSN_HUMAN	D	1213	ENSP00000296452:G1213D	ENSP00000296452:G1213D	G	+	2	0	BSN	49665631	0.033000	0.19621	0.001000	0.08648	0.725000	0.41563	2.208000	0.42797	-0.090000	0.12462	0.462000	0.41574	GGC	G|0.940;A|0.060	0.060	strong		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49690627	G	A	49690627	3	1	23	1	0	0	0	0	1	0	0	0	1530	1203	42	2	3656	2	BSN	3	49690627	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131	49690627	148331803	932	17388										
BSN	8927	hgsc.bcm.edu	37	chr3	49701983	49701983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcaagctggcaaactgacGgaaggtatgcactgcctgca	13	10	0	1	rs9858542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49701983G>A	ENST00000296452.4	+	9	11850	c.11736G>A	c.(11734-11736)acG>acA	p.T3912T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3912					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)		GCAAACTGACGGAAGGTATGC	0.637													G|||	978	0.195288	0.2171	0.17	5008	,	,		17930	0.0516		0.3241	False		,,,				2504	0.1994				p.T3912T		Atlas-SNP	.											BSN,NS,carcinoma,+1,1	BSN	272	1	0			c.G11736A						PASS	.	G		1044,3362	379.7+/-323.4	120,804,1279	48	54	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11736	-10.1	0.6	3	dbSNP_119	52	2577,6023	416.5+/-352.1	402,1773,2125	yes	coding-synonymous	BSN	NM_003458.3		522,2577,3404	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	29.9651,23.695,27.841		3912/3927	49701983	3621,9385	2203	4300	6503	SO:0001819	synonymous_variant	8927	exon9			ACTGACGGAAGGT	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.11736G>A	3.37:g.49701983G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	34	22	0.647059	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																			G|0.749;A|0.251	0.251	strong		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49701983	G	A	49701983	2	1	23	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49701983	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11356	49701983	148320447	933	17389										
MST1	327	hgsc.bcm.edu	37	chr3	49721532	49721532	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgaagacagctggccagcGggaccttgcgcatactcggt	14	12	0	2	rs3197999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49721532G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R703C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R689C(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGCCAGCGGGACCTTGCG	0.567													G|||	961	0.191893	0.2179	0.1686	5008	,	,		20686	0.0565		0.3131	False		,,,				2504	0.1881				p.R703C		Atlas-SNP	.											MST1,NS,carcinoma,0,1	MST1	84	1	1	Substitution - Missense(1)	stomach(1)	c.C2107T						scavenged	.	G	CYS/ARG	1036,3370	380.4+/-323.7	120,796,1287	64	61	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2107	-2.8	0.1	3	dbSNP_105	62	2525,6075	411.6+/-350.5	385,1755,2160	yes	missense	MST1	NM_020998.3	180	505,2551,3447	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	29.3605,23.5134,27.3797	possibly-damaging	703/726	49721532	3561,9445	2203	4300	6503	SO:0001628	intergenic_variant	4485	exon18			GCCAGCGGGACCT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721532G>A		Somatic	480	2	0.00416667		WXS	Illumina HiSeq	Phase_I	441	202	0.45805	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	472|472	0.21611721611721613|0.21611721611721613	119|119	0.241869918699187|0.241869918699187	81|81	0.22375690607734808|0.22375690607734808	37|37	0.06468531468531469|0.06468531468531469	235|235	0.3100263852242744|0.3100263852242744	G|G	17.19|17.19	3.327308|3.327308	0.60743|0.60743	0.235134|0.235134	0.293605|0.293605	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.89196	.|-2.48	5.59|5.59	-2.82|-2.82	0.05787|0.05787	.|.	.|0.559462	.|0.14941	.|N	.|0.289511	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.74389|0.74389	2.26|2.26	0.46298|0.46298	P|P	0.0010210000000000496|0.0010210000000000496	.|P	.|0.40681	.|0.727	.|B	.|0.40702	.|0.338	T|T	0.21280|0.21280	-1.0250|-1.0250	4|9	.|0.66056	.|D	.|0.02	.|.	12.6939|12.6939	0.56992|0.56992	0.07:0.7015:0.147:0.0815|0.07:0.7015:0.147:0.0815	rs3197999;rs52793577;rs60772290;rs3197999|rs3197999;rs52793577;rs60772290;rs3197999	.|703	.|G3XAK1	.|.	L|C	172|703	.|ENSP00000414287:R703C	.|ENSP00000414287:R703C	P|R	-|-	2|1	0|0	MST1|MST1	49696536|49696536	0.511000|0.511000	0.26179|0.26179	0.123000|0.123000	0.21794|0.21794	0.860000|0.860000	0.49131|0.49131	1.075000|1.075000	0.30716|0.30716	-0.545000|-0.545000	0.06224|0.06224	0.655000|0.655000	0.94253|0.94253	CCG|CGC	G|0.749;A|0.251	0.251	strong		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49721532	G	A	49721532	1	1	23	0	1	0	0	0	0	0	0	0	9890	1116	39	1		1	MST1	3	49721532	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19549	49721532	148300898	934	17390										
MST1	327	hgsc.bcm.edu	37	chr3	49721798	49721798	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagtgcacatctcactctcCcgcacacgtcctcggtgctt	7	17	3	0	rs13085791	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49721798C>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.R655R	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTCACTCTCCCGCACACGTC	0.597													C|||	1046	0.208866	0.2632	0.1729	5008	,	,		21198	0.0565		0.3241	False		,,,				2504	0.1994				p.R655R		Atlas-SNP	.											.	MST1	84	.	0			c.G1965T						PASS	.	C		1184,3222	408.9+/-334.8	153,878,1172	55	57	56		1965	-6	0	3	dbSNP_121	56	2576,6024	406.4+/-348.8	399,1778,2123	no	coding-synonymous	MST1	NM_020998.3		552,2656,3295	AA,AC,CC		29.9535,26.8724,28.9097		655/726	49721798	3760,9246	2203	4300	6503	SO:0001628	intergenic_variant	4485	exon17			ACTCTCCCGCACA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721798C>A		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	349	180	0.515759	NM_020998	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1	515	0.2358058608058608	148	0.3008130081300813	83	0.2292817679558011	37	0.06468531468531469	247	0.3258575197889182	C	5.900	0.350100	0.11182	0.268724	0.299535	ENSG00000173531	ENST00000448220	.	.	.	5.59	-5.99	0.02213	.	.	.	.	.	.	.	.	.	.	.	0.23023	P	0.99841852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6906	0.02851	0.1818:0.3582:0.266:0.194	rs13085791;rs13085791	.	.	.	X	125	.	.	G	-	1	0	MST1	49696802	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	-1.124000	0.03260	-1.376000	0.02126	0.655000	0.94253	GGA	C|0.725;A|0.275	0.275	strong		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49721798	C	A	49721798	1	1	23	0	1	0	0	0	0	0	0	0	9890	610	22	4		4	MST1	3	49721798	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	266	49721798	148300632	935	17391										
RNF123	63891	hgsc.bcm.edu	37	chr3	49749976	49749976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccattgagcacggtgatcGcacagggtctctctttgcct	11	12	2	2	rs34823813	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49749976G>A	ENST00000327697.6	+	27	2705	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	RNF123_ENST00000433785.1_5'Flank|RNF123_ENST00000432042.1_Missense_Mutation_p.R708H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	854			R -> H (in dbSNP:rs34823813). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACGGTGATCGCACAGGGTCT	0.582													G|||	229	0.0457268	0.0023	0.0648	5008	,	,		20720	0.0298		0.1113	False		,,,				2504	0.0399				p.R854H		Atlas-SNP	.											.	RNF123	100	.	0			c.G2561A						PASS	.	G	HIS/ARG	92,4314	76.8+/-115.0	0,92,2111	162	123	136		2561	5	1	3	dbSNP_126	136	880,7720	199.3+/-243.4	42,796,3462	yes	missense	RNF123	NM_022064.2	29	42,888,5573	AA,AG,GG		10.2326,2.0881,7.4735	probably-damaging	854/1315	49749976	972,12034	2203	4300	6503	SO:0001583	missense	63891	exon27			GTGATCGCACAGG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2561G>A	3.37:g.49749976G>A	ENSP00000328287:p.Arg854His	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	147	74	0.503401	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	134	0.06135531135531135	3	0.006097560975609756	31	0.0856353591160221	16	0.027972027972027972	84	0.11081794195250659	G	16.64	3.179625	0.57800	0.020881	0.102326	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75821	-0.68;-0.97	5.91	5.04	0.67666	.	0.317981	0.37955	N	0.001863	T	0.03053	0.0090	L	0.29908	0.895	0.09310	P	0.9999999999999286	D;D	0.60160	0.987;0.987	P;P	0.45232	0.474;0.474	T	0.49103	-0.8974	9	0.45353	T	0.12	-27.8134	14.4717	0.67521	0.0702:0.0:0.9298:0.0	rs34823813;rs34823813	708;854	C9J266;Q5XPI4	.;RN123_HUMAN	H	854;854;708	ENSP00000328287:R854H;ENSP00000392443:R708H	ENSP00000328287:R854H	R	+	2	0	RNF123	49724980	1.000000	0.71417	0.999000	0.59377	0.313000	0.28021	3.578000	0.53892	1.521000	0.48983	-0.133000	0.14855	CGC	G|0.933;A|0.067	0.067	strong		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49749976	G	A	49749976	3	1	23	1	0	0	0	0	1	0	0	0	13433	1087	38	1	2663	1	RNF123	3	49749976	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28178	49749976	148272454	936	17392										
MST1R	4486	hgsc.bcm.edu	37	chr3	49928866	49928866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgaactggagcaggtcaCcgtggcacatatagggcagc	15	9	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:49928866C>T	ENST00000296474.3	-	16	3527	c.3500G>A	c.(3499-3501)gGt>gAt	p.G1167D	MST1R_ENST00000344206.4_Missense_Mutation_p.G1118D	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAGCAGGTCACCGTGGCACAT	0.607																																					p.G1167D		Atlas-SNP	.											MST1R_ENST00000296474,NS,neuroblastoma,-1,2	MST1R	205	2	0			c.G3500A						scavenged	.						83	74	77					3																	49928866		2203	4300	6503	SO:0001583	missense	4486	exon16			AGGTCACCGTGGC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3500G>A	3.37:g.49928866C>T	ENSP00000296474:p.Gly1167Asp	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	204	4	0.0196078	NM_002447	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	29.1|29.1	4.980229|4.980229	0.92982|0.92982	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765;ENST00000440292	D;D|.	0.89939|.	-2.59;-2.59|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.193910|.	0.53938|.	D|.	0.000041|.	D|D	0.88310|0.88310	0.6402|0.6402	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.55824|.	0.785|.	D|D	0.92237|0.92237	0.5797|0.5797	10|5	0.87932|.	D|.	0|.	-4.2361|-4.2361	18.407|18.407	0.90539|0.90539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1167|.	Q04912|.	RON_HUMAN|.	D|M	1167;1118|145;188	ENSP00000296474:G1167D;ENSP00000341325:G1118D|.	ENSP00000296474:G1167D|.	G|V	-|-	2|1	0|0	MST1R|MST1R	49903870|49903870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.979000|0.979000	0.70002|0.70002	7.540000|7.540000	0.82074|0.82074	2.587000|2.587000	0.87381|0.87381	0.632000|0.632000	0.83419|0.83419	GGT|GTG	.	.	none		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			T	49928866	C	T	49928866	3	4	23	1	0	0	0	0	1	0	0	0	9891	507	18	2	722	2	MST1R	3	49928866	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	178890	49928866	148093564	937	17393										
RBM6	10180	hgsc.bcm.edu	37	chr3	50005373	50005373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaggtagggatgctcctcCatctgacttcaggggccggg	15	11	2	2	rs142246877	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:50005373C>T	ENST00000266022.4	+	3	774	c.515C>T	c.(514-516)cCa>cTa	p.P172L	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.P40L|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	172					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATGCTCCTCCATCTGACTTC	0.473													C|||	5	0.000998403	0.0	0.0014	5008	,	,		17453	0.0		0.003	False		,,,				2504	0.001				p.P172L		Atlas-SNP	.											.	RBM6	85	.	0			c.C515T						PASS	.	C	,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	61	63	62		,515	5.9	1	3	dbSNP_134	62	37,8563	25.7+/-73.6	0,37,4263	yes	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,98	0,44,6459	TT,TC,CC		0.4302,0.1589,0.3383	,probably-damaging	,172/1124	50005373	44,12962	2203	4300	6503	SO:0001583	missense	10180	exon3			CTCCTCCATCTGA	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.515C>T	3.37:g.50005373C>T	ENSP00000266022:p.Pro172Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	102	49	0.480392	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	14.30	2.493001	0.44352	0.001589	0.004302	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.34472	1.43;1.36	5.88	5.88	0.94601	.	0.109289	0.41396	D	0.000894	T	0.32315	0.0825	L	0.40543	1.245	0.80722	D	1	B	0.31383	0.321	B	0.25614	0.062	T	0.03910	-1.0993	9	.	.	.	-3.6177	20.2405	0.98372	0.0:1.0:0.0:0.0	.	172	P78332	RBM6_HUMAN	L	172;40	ENSP00000266022:P172L;ENSP00000396466:P40L	.	P	+	2	0	RBM6	49980377	0.965000	0.33210	0.985000	0.45067	0.994000	0.84299	4.345000	0.59360	2.797000	0.96272	0.561000	0.74099	CCA	C|0.997;T|0.003	0.003	strong		0.473	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005373	C	T	50005373	3	4	23	1	0	0	0	0	1	0	0	0	13144	594	21	2	521	2	RBM6	3	50005373	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	76507	50005373	148017057	938	17394										
RBM6	10180	hgsc.bcm.edu	37	chr3	50005855	50005855	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttggcattcagaagggaGaatttgagcattcagaaaca	10	6	2	4	rs143972186	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:50005855G>A	ENST00000266022.4	+	3	1256	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.E201K|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	333					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAGAAGGGAGAATTTGAGCA	0.423													G|||	5	0.000998403	0.0	0.0014	5008	,	,		21143	0.0		0.003	False		,,,				2504	0.001				p.E333K		Atlas-SNP	.											.	RBM6	85	.	0			c.G997A						PASS	.	G	,LYS/GLU	7,4399	12.9+/-30.5	0,7,2196	81	72	75		,997	6	1	3	dbSNP_134	75	37,8563	25.1+/-72.6	0,37,4263	yes	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,56	0,44,6459	AA,AG,GG		0.4302,0.1589,0.3383	,probably-damaging	,333/1124	50005855	44,12962	2203	4300	6503	SO:0001583	missense	10180	exon3			AAGGGAGAATTTG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.997G>A	3.37:g.50005855G>A	ENSP00000266022:p.Glu333Lys	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	205	106	0.517073	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	16.90	3.249072	0.59103	0.001589	0.004302	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.38887	1.11;1.15	6.04	6.04	0.98038	.	0.128334	0.51477	D	0.000098	T	0.49695	0.1572	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.35574	-0.9783	9	.	.	.	-13.7992	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	333	P78332	RBM6_HUMAN	K	333;201	ENSP00000266022:E333K;ENSP00000396466:E201K	.	E	+	1	0	RBM6	49980859	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.840000	0.62817	2.873000	0.98535	0.561000	0.74099	GAA	G|0.997;A|0.003	0.003	strong		0.423	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		A	50005855	G	A	50005855	3	1	23	1	0	0	0	0	1	0	0	0	13144	943	33	2	1003	2	RBM6	3	50005855	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	482	50005855	148016575	939	17395										
RBM6	10180	hgsc.bcm.edu	37	chr3	50114515	50114515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacagtccaacgagacttaCcgagatgctgttcgaagagt	11	9	0	4	rs7061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:50114515C>T	ENST00000266022.4	+	21	3580	c.3321C>T	c.(3319-3321)taC>taT	p.Y1107Y	RBM6_ENST00000442092.1_Silent_p.Y585Y|RBM6_ENST00000443081.1_Silent_p.Y975Y|RBM6_ENST00000421682.1_Silent_p.Y103Y|RBM6_ENST00000422955.1_Silent_p.Y585Y|RBM6_ENST00000539992.1_Silent_p.Y449Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1107					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACGAGACTTACCGAGATGCTG	0.458													c|||	3741	0.747005	0.7458	0.6945	5008	,	,		15235	0.879		0.5686	False		,,,				2504	0.8333				p.Y1107Y		Atlas-SNP	.											.	RBM6	85	.	0			c.C3321T						PASS	.	T	,	3176,1230	424.2+/-340.4	1145,886,172	93	88	89		1755,3321	3	1	3	dbSNP_52	89	4903,3697	529.7+/-381.6	1369,2165,766	no	coding-synonymous,coding-synonymous	RBM6	NM_001167582.1,NM_005777.2	,	2514,3051,938	TT,TC,CC		42.9884,27.9165,37.8825	,	585/602,1107/1124	50114515	8079,4927	2203	4300	6503	SO:0001819	synonymous_variant	10180	exon21			GACTTACCGAGAT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3321C>T	3.37:g.50114515C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	118	51	0.432203	NM_005777	O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	CCDS2809.1																																																																																			C|0.329;T|0.671	0.671	strong		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50114515	C	T	50114515	2	4	23	1	0	0	0	0	0	0	0	1	13144	518	18	2		2	RBM6	3	50114515	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	108660	50114515	147907915	940	17396										
RBM5	10181	hgsc.bcm.edu	37	chr3	50144951	50144951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatggtaaccgcgtcagcgcTttctctgtagctagtacggc	12	11	2	0	rs1061474	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:50144951T>C	ENST00000347869.3	+	12	1165	c.990T>C	c.(988-990)gcT>gcC	p.A330A	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	330	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGTCAGCGCTTTCTCTGTAG	0.488													C|||	3743	0.747404	0.7458	0.6945	5008	,	,		16513	0.881		0.5686	False		,,,				2504	0.8333				p.A330A		Atlas-SNP	.											.	RBM5	76	.	0			c.T990C						PASS	.	C		3175,1231	424.2+/-340.4	1144,887,172	169	147	154		990	5	1	3	dbSNP_86	154	4901,3699	529.7+/-381.6	1368,2165,767	no	coding-synonymous	RBM5	NM_005778.2		2512,3052,939	CC,CT,TT		43.0116,27.9392,37.9056		330/816	50144951	8076,4930	2203	4300	6503	SO:0001819	synonymous_variant	10181	exon12			CAGCGCTTTCTCT	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.990T>C	3.37:g.50144951T>C		Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	234	109	0.465812	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	ENST00000347869.3	37	CCDS2810.1																																																																																			T|0.327;C|0.673	0.673	strong		0.488	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		C	50144951	T	C	50144951	2	2	23	1	0	0	0	0	0	0	0	1	13143	1596	56	3		3	RBM5	3	50144951	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30436	50144951	147877479	941	17397										
RBM5	10181	hgsc.bcm.edu	37	chr3	50153356	50153356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagcaaaacatggacatctaTcgacgatccaggctgagcga	10	10	1	1	rs1138536	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:50153356T>C	ENST00000347869.3	+	22	2212	c.2037T>C	c.(2035-2037)taT>taC	p.Y679Y	RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	679	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGACATCTATCGACGATCCA	0.438													C|||	3743	0.747404	0.7458	0.6945	5008	,	,		22551	0.8819		0.5686	False		,,,				2504	0.8323				p.Y679Y		Atlas-SNP	.											.	RBM5	76	.	0			c.T2037C						PASS	.	C		3176,1230	424.0+/-340.3	1145,886,172	108	110	109		2037	2	1	3	dbSNP_86	109	4904,3696	529.7+/-381.6	1370,2164,766	no	coding-synonymous	RBM5	NM_005778.2		2515,3050,938	CC,CT,TT		42.9767,27.9165,37.8748		679/816	50153356	8080,4926	2203	4300	6503	SO:0001819	synonymous_variant	10181	exon22			CATCTATCGACGA	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2037T>C	3.37:g.50153356T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	86	55	0.639535	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	ENST00000347869.3	37	CCDS2810.1																																																																																			T|0.328;C|0.672	0.672	strong		0.438	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		C	50153356	T	C	50153356	2	2	23	1	0	0	0	0	0	0	0	1	13143	1442	50	2		2	RBM5	3	50153356	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8405	50153356	147869074	942	17398										
DOCK3	1795	hgsc.bcm.edu	37	chr3	51198110	51198110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagaagtaaaggaagaaaaGgattttgttcttaaggttta	10	2	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:51198110G>A	ENST00000266037.9	+	12	1037	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	338					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K338N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGAAGAAAAGGATTTTGTTC	0.443																																					p.K338K		Atlas-SNP	.											DOCK3_ENST00000266037,rectum,carcinoma,0,3	DOCK3	397	3	1	Substitution - Missense(1)	large_intestine(1)	c.G1014A						scavenged	.						80	82	81					3																	51198110		1967	4138	6105	SO:0001819	synonymous_variant	1795	exon12			AGAAAAGGATTTT	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1014G>A	3.37:g.51198110G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	141	2	0.0141844	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																			.	.	none		0.443	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51198110	G	A	51198110	2	1	23	1	0	0	0	0	0	0	0	1	4688	991	35	2		2	DOCK3	3	51198110	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1044754	51198110	146824320	943	17399										
PARP3	10039	hgsc.bcm.edu	37	chr3	51981769	51981769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgcagttattggcatgaaGtgtggggcccaccatgtcgg	14	9	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:51981769G>A	ENST00000417220.2	+	11	1778	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	PARP3_ENST00000431474.1_Silent_p.K430K|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Silent_p.K437K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	430	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGCATGAAGTGTGGGGCCC	0.602																																					p.K437K		Atlas-SNP	.											.	PARP3	90	.	0			c.G1311A						PASS	.						95	100	98					3																	51981769		2053	4189	6242	SO:0001819	synonymous_variant	10039	exon10			CATGAAGTGTGGG	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1290G>A	3.37:g.51981769G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	97	57	0.587629	NM_001003931	Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	CCDS43097.1																																																																																			.	.	none		0.602	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		A	51981769	G	A	51981769	2	1	23	1	0	0	0	0	0	0	0	1	11462	1020	36	2		2	PARP3	3	51981769	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	783659	51981769	146040661	944	17400										
DNAH1	25981	hgsc.bcm.edu	37	chr3	52409421	52409421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttctccaccatcctgggcaActggttgggtgagtattggt	12	10	1	1	rs56002041	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:52409421A>G	ENST00000420323.2	+	45	7412	c.7151A>G	c.(7150-7152)aAc>aGc	p.N2384S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2384	AAA 3. {ECO:0000250}.		N -> S (in dbSNP:rs56002041).		cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCTGGGCAACTGGTTGGGT	0.582													A|||	212	0.0423323	0.0023	0.0706	5008	,	,		22405	0.0		0.1044	False		,,,				2504	0.0562				p.N2384S		Atlas-SNP	.											.	DNAH1	534	.	0			c.A7151G						PASS	.	A	SER/ASN	76,4074		2,72,2001	48	48	48		7151	2.9	0	3	dbSNP_129	48	1026,7384		62,902,3241	yes	missense	DNAH1	NM_015512.4	46	64,974,5242	GG,GA,AA		12.1998,1.8313,8.7739	benign	2384/4266	52409421	1102,11458	2075	4205	6280	SO:0001583	missense	25981	exon45			TGGGCAACTGGTT	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7151A>G	3.37:g.52409421A>G	ENSP00000401514:p.Asn2384Ser	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	106	0.048534798534798536	2	0.0040650406504065045	29	0.08011049723756906	0	0.0	75	0.09894459102902374	A	0.045	-1.270904	0.01421	0.018313	0.121998	ENSG00000114841	ENST00000420323	T	0.34859	1.34	5.71	2.9	0.33743	.	0.342659	0.24601	N	0.037132	T	0.00144	0.0004	N	0.00793	-1.18	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	0.20519	T	0.43	.	8.3407	0.32241	0.1424:0.1287:0.7289:0.0	rs56002041;rs61734635	2384	C9JXH6	.	S	2384	ENSP00000401514:N2384S	ENSP00000401514:N2384S	N	+	2	0	DNAH1	52384461	0.958000	0.32768	0.016000	0.15963	0.362000	0.29581	3.673000	0.54591	0.324000	0.23333	-0.375000	0.07067	AAC	A|0.943;G|0.057	0.057	strong		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52409421	A	G	52409421	3	3	23	1	0	0	0	0	1	0	0	0	4597	43	2	2	7325	2	DNAH1	3	52409421	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	427652	52409421	145613009	945	17401										
ITIH1	3697	hgsc.bcm.edu	37	chr3	52825912	52825912	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctacactgattatatcgtCcccgacatcttctgagccct	6	15	2	2	rs7549	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:52825912C>A	ENST00000273283.2	+	22	2745	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	ITIH3_ENST00000449956.2_5'Flank|ITIH3_ENST00000416872.2_5'Flank|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.V765V|ITIH1_ENST00000405128.3_Silent_p.V273V|ITIH1_ENST00000537050.1_Silent_p.V619V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	907	Hyaluronan-binding.				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)		ATTATATCGTCCCCGACATCT	0.602													C|||	138	0.0275559	0.0061	0.0432	5008	,	,		21431	0.0		0.0885	False		,,,				2504	0.0112				p.V907V		Atlas-SNP	.											.	ITIH1	108	.	0			c.C2721A						PASS	.	C	,,,	76,4330	65.3+/-102.7	1,74,2128	127	114	119		2295,1857,1857,2721	2.8	0.1	3	dbSNP_52	119	829,7771	191.1+/-237.4	42,745,3513	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	43,819,5641	AA,AC,CC		9.6395,1.7249,6.9583	,,,	765/770,619/624,619/624,907/912	52825912	905,12101	2203	4300	6503	SO:0001819	synonymous_variant	3697	exon22			TATCGTCCCCGAC		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.2721C>A	3.37:g.52825912C>A		Somatic	257	1	0.00389105		WXS	Illumina HiSeq	Phase_I	264	126	0.477273	NM_002215	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																			C|0.941;A|0.059	0.059	strong		0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		A	52825912	C	A	52825912	2	1	23	1	0	0	0	0	0	0	0	1	7903	842	30	4		4	ITIH1	3	52825912	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	416491	52825912	145196518	946	17402										
ITIH4	3700	hgsc.bcm.edu	37	chr3	52864635	52864635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgagaactttgctgcaggtAcggacaggccttgggggctt	15	9	0	1	rs2276818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:52864635A>G	ENST00000266041.4	-	1	120	c.24T>C	c.(22-24)cgT>cgC	p.R8R	ITIH4_ENST00000406595.1_Silent_p.R8R|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_5'UTR|ITIH4_ENST00000346281.5_Silent_p.R8R|RP5-966M1.6_ENST00000513520.1_5'UTR|ITIH4_ENST00000485816.1_Silent_p.R8R	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	8					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTGCAGGTACGGACAGGCC	0.567													A|||	418	0.0834665	0.0613	0.1297	5008	,	,		19453	0.0417		0.1441	False		,,,				2504	0.0613				p.R8R		Atlas-SNP	.											ITIH4,NS,adenocarcinoma,-1,1	ITIH4	74	1	0			c.T24C						PASS	.	A	,	343,4063	179.7+/-208.2	17,309,1877	145	135	138		24,24	-0.7	0	3	dbSNP_100	138	1271,7329	253.3+/-279.0	99,1073,3128	no	coding-synonymous,coding-synonymous	ITIH4	NM_001166449.1,NM_002218.4	,	116,1382,5005	GG,GA,AA		14.7791,7.7848,12.4097	,	8/901,8/931	52864635	1614,11392	2203	4300	6503	SO:0001819	synonymous_variant	3700	exon1			GCAGGTACGGACA	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.24T>C	3.37:g.52864635A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	115	53	0.46087	NM_001166449	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1																																																																																			A|0.880;G|0.120	0.120	strong		0.567	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		G	52864635	A	G	52864635	2	3	23	1	0	0	0	0	0	0	0	1	7906	378	14	2		2	ITIH4	3	52864635	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	38723	52864635	145157795	947	17403										
IL17RB	55540	hgsc.bcm.edu	37	chr3	53892830	53892830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccacaaacaggcgtccctTtccctctggataacagtaag	8	14	1	0	rs2232346	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:53892830T>C	ENST00000288167.3	+	9	841	c.832T>C	c.(832-834)Ttc>Ctc	p.F278L	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	278			F -> L (in dbSNP:rs2232346). {ECO:0000269|Ref.5}.		cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGGCGTCCCTTTCCCTCTGGA	0.493													T|||	35	0.00698882	0.0023	0.0086	5008	,	,		21148	0.0		0.0249	False		,,,				2504	0.001				p.F278L		Atlas-SNP	.											.	IL17RB	27	.	0			c.T832C						PASS	.	T	LEU/PHE	22,4384	29.9+/-59.1	0,22,2181	83	75	77		832	-8.2	0	3	dbSNP_98	77	236,8364	95.4+/-157.2	4,228,4068	yes	missense	IL17RB	NM_018725.3	22	4,250,6249	CC,CT,TT		2.7442,0.4993,1.9837	benign	278/503	53892830	258,12748	2203	4300	6503	SO:0001583	missense	55540	exon9			GTCCCTTTCCCTC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.832T>C	3.37:g.53892830T>C	ENSP00000288167:p.Phe278Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	62	18	0.290323	NM_018725	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	27	0.012362637362637362	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	22	0.029023746701846966	T	6.318	0.426778	0.11987	0.004993	0.027442	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.13307	3.32;2.6	4.94	-8.22	0.01037	.	2.450880	0.01295	N	0.010152	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31420	-0.9944	10	0.10636	T	0.68	2.6701	1.4097	0.02288	0.4558:0.2473:0.1139:0.1829	rs2232346;rs17580134;rs52815784;rs2232346	278	Q9NRM6	I17RB_HUMAN	L	278;262	ENSP00000288167:F278L;ENSP00000418638:F262L	ENSP00000288167:F278L	F	+	1	0	IL17RB	53867870	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.597000	0.05713	-1.314000	0.02300	-0.256000	0.11100	TTC	T|0.982;C|0.018	0.018	strong		0.493	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		C	53892830	T	C	53892830	3	2	23	1	0	0	0	0	1	0	0	0	7640	1841	64	2	866	2	IL17RB	3	53892830	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1028195	53892830	144129600	948	17404										
LRTM1	57408	hgsc.bcm.edu	37	chr3	54958968	54958968	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcaagtgctgaagcccatgGaaagctccaggggccagatt	13	10	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:54958968G>A	ENST00000273286.5	-	2	444	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.F18F|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	94						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GAAGCCCATGGAAAGCTCCAG	0.473																																					p.F94F		Atlas-SNP	.											LRTM1,NS,carcinoma,-1,1	LRTM1	52	1	0			c.C282T						scavenged	.						54	54	54					3																	54958968		2203	4300	6503	SO:0001819	synonymous_variant	57408	exon2			CCCATGGAAAGCT	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.282C>T	3.37:g.54958968G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_020678	Q8IUU2	Silent	SNP	ENST00000273286.5	37	CCDS2876.1																																																																																			.	.	none		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		A	54958968	G	A	54958968	2	1	23	1	0	0	0	0	0	0	0	1	9044	1165	41	2		2	LRTM1	3	54958968	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1066138	54958968	143063462	949	17405										
CCDC66	285331	hgsc.bcm.edu	37	chr3	56628033	56628033	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaggaacgagacagacgaCgacaaaaacaattagagcat	10	7	0	4	rs150364083	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:56628033C>T	ENST00000394672.3	+	10	1451	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	CCDC66_ENST00000326595.7_Nonsense_Mutation_p.R427*|CCDC66_ENST00000436465.2_Nonsense_Mutation_p.R461*	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	461					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGACAGACGACGACAAAAACA	0.373													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20246	0.0		0.002	False		,,,				2504	0.0				p.R461X		Atlas-SNP	.											.	CCDC66	145	.	0			c.C1381T						PASS	.	C	stop/ARG,stop/ARG	4,4402	9.9+/-24.2	0,4,2199	180	168	172		1279,1381	4.9	1	3	dbSNP_134	172	66,8534	39.8+/-96.3	0,66,4234	yes	stop-gained,stop-gained	CCDC66	NM_001012506.4,NM_001141947.1	,	0,70,6433	TT,TC,CC		0.7674,0.0908,0.5382	,	427/915,461/949	56628033	70,12936	2203	4300	6503	SO:0001587	stop_gained	285331	exon10			AGACGACGACAAA	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1381C>T	3.37:g.56628033C>T	ENSP00000378167:p.Arg461*	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	125	51	0.408	NM_001141947	B3KWL8|Q4VC34|Q8N949	Nonsense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	6.393245	0.97529	9.08E-4	0.007674	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	.	.	.	5.81	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6425	15.6712	0.77279	0.1457:0.8543:0.0:0.0	.	.	.	.	X	417;461;427;461	.	ENSP00000326050:R427X	R	+	1	2	CCDC66	56603073	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	3.573000	0.53856	2.739000	0.93911	0.585000	0.79938	CGA	C|0.996;T|0.004	0.004	strong		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		T	56628033	C	T	56628033	4	4	23	1	0	0	0	0	0	1	0	0	2838	528	19	1	1419	1	CCDC66	3	56628033	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1669065	56628033	141394397	950	17406										
ARHGEF3	50650	hgsc.bcm.edu	37	chr3	56835761	56835761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggccggaccgctggccggGggtagctccaggctgcagtt	17	12	0	0	rs3732508	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:56835761G>A	ENST00000296315.3	-	1	234	c.66C>T	c.(64-66)ccC>ccT	p.P22P	ARHGEF3_ENST00000495373.1_Silent_p.P22P|ARHGEF3_ENST00000338458.4_Intron|ARHGEF3_ENST00000496106.1_Intron|ARHGEF3_ENST00000498517.1_Intron	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	22					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGCTGGCCGGGGGTAGCTCCA	0.652													G|||	1609	0.321286	0.0227	0.487	5008	,	,		16762	0.1944		0.5716	False		,,,				2504	0.4806				p.P22P		Atlas-SNP	.											ARHGEF3_ENST00000296315,NS,carcinoma,0,2	ARHGEF3	128	2	0			c.C66T						PASS	.	G	,	492,3902		44,404,1749	35	31	33		,66	4	1	3	dbSNP_107	33	4617,3949		1292,2033,958	no	intron,coding-synonymous	ARHGEF3	NM_001128615.1,NM_019555.2	,	1336,2437,2707	AA,AG,GG		46.1009,11.1971,39.4213	,	,22/527	56835761	5109,7851	2197	4283	6480	SO:0001819	synonymous_variant	50650	exon1			GGCCGGGGGTAGC	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.66C>T	3.37:g.56835761G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	115	114	0.991304	NM_019555	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	CCDS2878.1																																																																																			G|0.677;A|0.323	0.323	strong		0.652	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		A	56835761	G	A	56835761	2	1	23	1	0	0	0	0	0	0	0	1	904	1219	43	2		2	ARHGEF3	3	56835761	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	207728	56835761	141186669	951	17407										
IL17RD	54756	hgsc.bcm.edu	37	chr3	57136585	57136585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtggcactgtgatggccaCggctctgatgggcccggccc	15	14	1	2	rs17057718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:57136585C>T	ENST00000296318.7	-	10	989	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	IL17RD_ENST00000320057.5_Missense_Mutation_p.V157M|IL17RD_ENST00000463523.1_Missense_Mutation_p.V157M|IL17RD_ENST00000427856.2_Missense_Mutation_p.V277M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	301			V -> M (in dbSNP:rs17057718).		signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTGATGGCCACGGCTCTGATG	0.488													C|||	1031	0.205871	0.0408	0.3271	5008	,	,		17270	0.376		0.1471	False		,,,				2504	0.228				p.V301M		Atlas-SNP	.											.	IL17RD	93	.	0			c.G901A						PASS	.	C	MET/VAL	317,4089	168.0+/-198.9	12,293,1898	56	58	57		901	3.6	0.2	3	dbSNP_123	57	1306,7294	257.3+/-281.4	94,1118,3088	yes	missense	IL17RD	NM_017563.3	21	106,1411,4986	TT,TC,CC		15.186,7.1947,12.4789	benign	301/740	57136585	1623,11383	2203	4300	6503	SO:0001583	missense	54756	exon10			TGGCCACGGCTCT	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.901G>A	3.37:g.57136585C>T	ENSP00000296318:p.Val301Met	Somatic	192	1	0.00520833		WXS	Illumina HiSeq	Phase_I	141	141	1	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	456	0.2087912087912088	23	0.046747967479674794	96	0.26519337016574585	225	0.39335664335664333	112	0.14775725593667546	C	9.731	1.162180	0.21538	0.071947	0.15186	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.10382	2.88;2.9;2.88;2.9	5.48	3.57	0.40892	.	0.104633	0.64402	D	0.000004	T	0.00012	0.0000	N	0.08118	0	0.27204	P	0.9600953	P;P;P	0.42357	0.669;0.466;0.777	B;B;B	0.31869	0.065;0.052;0.137	T	0.44967	-0.9293	9	0.33940	T	0.23	-19.0964	4.6136	0.12415	0.0:0.6131:0.0:0.3869	rs17057718;rs17057718	157;301;277	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	M	301;157;277;157	ENSP00000296318:V301M;ENSP00000322250:V157M;ENSP00000399209:V277M;ENSP00000417516:V157M	ENSP00000296318:V301M	V	-	1	0	IL17RD	57111625	0.894000	0.30519	0.215000	0.23724	0.320000	0.28249	1.488000	0.35551	1.557000	0.49525	-0.136000	0.14681	GTG	C|0.840;T|0.160	0.160	strong		0.488	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		T	57136585	C	T	57136585	3	4	23	1	0	0	0	0	1	0	0	0	7642	536	19	1	1334	1	IL17RD	3	57136585	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	300824	57136585	140885845	952	17408										
APPL1	26060	hgsc.bcm.edu	37	chr3	57269608	57269608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacagacaaggtctttactAggtgtatttgaagaagatgc	10	5	1	4	rs11544592	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:57269608A>G	ENST00000288266.3	+	2	216	c.69A>G	c.(67-69)ctA>ctG	p.L23L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	23	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGTCTTTACTAGGTGTATTTG	0.318													A|||	28	0.00559105	0.0	0.0086	5008	,	,		19244	0.0		0.0179	False		,,,				2504	0.0041				p.L23L		Atlas-SNP	.											.	APPL1	59	.	0			c.A69G						PASS	.	A		12,4394	17.9+/-39.9	0,12,2191	112	108	110		69	2.1	1	3	dbSNP_123	110	139,8461	69.0+/-131.5	2,135,4163	no	coding-synonymous	APPL1	NM_012096.2		2,147,6354	GG,GA,AA		1.6163,0.2724,1.161		23/710	57269608	151,12855	2203	4300	6503	SO:0001819	synonymous_variant	26060	exon2			TTTACTAGGTGTA	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.69A>G	3.37:g.57269608A>G		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	243	121	0.497942	NM_012096	Q9P2B9	Silent	SNP	ENST00000288266.3	37	CCDS2882.1																																																																																			A|0.987;G|0.013	0.013	strong		0.318	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		G	57269608	A	G	57269608	2	3	23	1	0	0	0	0	0	0	0	1	817	407	15	3		3	APPL1	3	57269608	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	133023	57269608	140752822	953	17409										
FLNB	2317	hgsc.bcm.edu	37	chr3	58081888	58081888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacaagtgacccctgacagTgacaagaacaagacatactc	8	12	0	5	rs1522384	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:58081888T>C	ENST00000295956.4	+	6	1092	c.927T>C	c.(925-927)agT>agC	p.S309S	FLNB_ENST00000490882.1_Silent_p.S309S|FLNB_ENST00000419752.2_Silent_p.S140S|FLNB_ENST00000493452.1_Silent_p.S140S|FLNB_ENST00000429972.2_Silent_p.S309S|FLNB_ENST00000348383.5_Silent_p.S309S|FLNB_ENST00000357272.4_Silent_p.S309S|FLNB_ENST00000358537.3_Silent_p.S309S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	309					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTGACAGTGACAAGAACA	0.552													C|||	3215	0.641973	0.5825	0.5821	5008	,	,		19936	0.9772		0.3668	False		,,,				2504	0.7025				p.S309S		Atlas-SNP	.											.	FLNB	430	.	0			c.T927C						PASS	.	C	,,,	2349,2057	566.4+/-381.9	621,1107,475	97	79	85		927,927,927,927	-2.9	0.3	3	dbSNP_88	85	2790,5810	677.4+/-403.4	463,1864,1973	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	1084,2971,2448	CC,CT,TT		32.4419,46.6863,39.5125	,,,	309/2634,309/2592,309/2579,309/2603	58081888	5139,7867	2203	4300	6503	SO:0001819	synonymous_variant	2317	exon6			TGACAGTGACAAG	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.927T>C	3.37:g.58081888T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	75	73	0.973333	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																			T|0.536;C|0.464	0.464	strong		0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58081888	T	C	58081888	2	2	23	1	0	0	0	0	0	0	0	1	5934	1693	59	2		2	FLNB	3	58081888	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	812280	58081888	139940542	954	17410										
FLNB	2317	hgsc.bcm.edu	37	chr3	58109162	58109162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagctggcctccttagcgtcGactgctcggaagcgggaccg	14	13	0	0	rs1131356	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:58109162G>A	ENST00000295956.4	+	21	3634	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	FLNB_ENST00000490882.1_Missense_Mutation_p.D1157N|FLNB_ENST00000419752.2_Missense_Mutation_p.D988N|FLNB_ENST00000493452.1_Missense_Mutation_p.D988N|FLNB_ENST00000429972.2_Missense_Mutation_p.D1157N|FLNB_ENST00000348383.5_Missense_Mutation_p.D1157N|FLNB_ENST00000357272.4_Missense_Mutation_p.D1157N|FLNB_ENST00000358537.3_Missense_Mutation_p.D1157N	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1157	Interaction with FBLP1.		D -> N (in dbSNP:rs1131356). {ECO:0000269|PubMed:11153914, ECO:0000269|PubMed:18487259, ECO:0000269|PubMed:9651345}.		actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTTAGCGTCGACTGCTCGGA	0.582													G|||	2735	0.546126	0.4758	0.4726	5008	,	,		16378	0.9187		0.2803	False		,,,				2504	0.5828				p.D1157N		Atlas-SNP	.											.	FLNB	430	.	0			c.G3469A						PASS	.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1813,2593	529.0+/-372.6	370,1073,760	64	72	69		3469,3469,3469,3469	5.1	0.9	3	dbSNP_86	69	2097,6503	360.6+/-332.0	263,1571,2466	yes	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	23,23,23,23	633,2644,3226	AA,AG,GG		24.3837,41.1484,30.063	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1157/2634,1157/2592,1157/2579,1157/2603	58109162	3910,9096	2203	4300	6503	SO:0001583	missense	2317	exon21			AGCGTCGACTGCT	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3469G>A	3.37:g.58109162G>A	ENSP00000295956:p.Asp1157Asn	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	77	74	0.961039	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	1105	0.5059523809523809	232	0.4715447154471545	145	0.4005524861878453	521	0.9108391608391608	207	0.27308707124010556	G	18.92	3.725331	0.68959	0.411484	0.243837	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.95	5.08	0.68730	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.69248	2.105	0.09310	P	0.9999999382633	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.987;1.0;1.0	D;D;D;P;D;D	0.91635	0.985;0.918;0.998;0.863;0.999;0.999	T	0.39251	-0.9623	9	0.54805	T	0.06	.	15.2231	0.73330	0.0672:0.0:0.9328:0.0	rs1131356;rs17058842;rs56425027;rs58310728;rs1131356	1157;1157;988;988;1157;1157	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	N	1157;1157;1157;1157;1157;1157;988;988	ENSP00000295956:D1157N;ENSP00000420213:D1157N;ENSP00000351339:D1157N;ENSP00000415599:D1157N;ENSP00000232447:D1157N;ENSP00000349819:D1157N;ENSP00000418510:D988N;ENSP00000414532:D988N	ENSP00000295956:D1157N	D	+	1	0	FLNB	58084202	1.000000	0.71417	0.888000	0.34837	0.016000	0.09150	9.869000	0.99810	1.537000	0.49254	0.563000	0.77884	GAC	G|0.596;A|0.404	0.404	strong		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58109162	G	A	58109162	3	1	23	1	0	0	0	0	1	0	0	0	5934	1058	37	1	3551	1	FLNB	3	58109162	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27274	58109162	139913268	955	17411										
FLNB	2317	hgsc.bcm.edu	37	chr3	58118555	58118555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttggtggagccagtgaacGtggtggacaatggagatggc	18	6	0	2	rs12632456	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:58118555G>A	ENST00000295956.4	+	26	4576	c.4411G>A	c.(4411-4413)Gtg>Atg	p.V1471M	FLNB_ENST00000490882.1_Missense_Mutation_p.V1502M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1302M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1302M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1471M|FLNB_ENST00000348383.5_Missense_Mutation_p.V1471M|FLNB_ENST00000357272.4_Missense_Mutation_p.V1471M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1471M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1471	Interaction with FBLP1.		V -> M (in dbSNP:rs12632456). {ECO:0000269|PubMed:11153914, ECO:0000269|PubMed:18487259, ECO:0000269|PubMed:9651345}.		actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAGTGAACGTGGTGGACAA	0.512													G|||	3046	0.608227	0.6422	0.4813	5008	,	,		23390	0.9692		0.2833	False		,,,				2504	0.6145				p.V1502M		Atlas-SNP	.											.	FLNB	430	.	0			c.G4504A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2573,1833	636.4+/-396.6	741,1091,371	148	127	134		4504,4411,4411,4411	2.8	0.7	3	dbSNP_120	134	2109,6491	363.6+/-333.2	265,1579,2456	yes	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	21,21,21,21	1006,2670,2827	AA,AG,GG		24.5233,41.6024,35.9988	benign,benign,benign,benign	1502/2634,1471/2592,1471/2579,1471/2603	58118555	4682,8324	2203	4300	6503	SO:0001583	missense	2317	exon27			GTGAACGTGGTGG	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4411G>A	3.37:g.58118555G>A	ENSP00000295956:p.Val1471Met	Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	104	103	0.990385	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	1232	0.5641025641025641	315	0.6402439024390244	153	0.42265193370165743	554	0.9685314685314685	210	0.2770448548812665	G	18.29	3.592206	0.66219	0.583976	0.245233	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.81	2.75	0.32379	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.199780	0.43110	D	0.000613	T	0.00012	0.0000	M	0.83774	2.66	0.25432	P	0.9881714	P;P;B;B;P;P	0.46395	0.877;0.588;0.382;0.057;0.807;0.807	B;B;B;B;B;B	0.43536	0.37;0.194;0.278;0.055;0.423;0.423	T	0.33828	-0.9853	9	0.49607	T	0.09	.	5.5883	0.17287	0.3207:0.1285:0.5508:0.0	rs12632456;rs52793889;rs61428936;rs12632456	1471;1502;1302;1302;1471;1471	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1471;1502;1471;1471;1471;1471;1302;1302	ENSP00000295956:V1471M;ENSP00000420213:V1502M;ENSP00000351339:V1471M;ENSP00000415599:V1471M;ENSP00000232447:V1471M;ENSP00000349819:V1471M;ENSP00000418510:V1302M;ENSP00000414532:V1302M	ENSP00000295956:V1471M	V	+	1	0	FLNB	58093595	1.000000	0.71417	0.669000	0.29828	0.915000	0.54546	2.951000	0.49089	0.228000	0.21019	0.557000	0.71058	GTG	G|0.538;A|0.462	0.462	strong		0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58118555	G	A	58118555	3	1	23	1	0	0	0	0	1	0	0	0	5934	1145	40	1	4610	1	FLNB	3	58118555	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9393	58118555	139903875	956	17412										
SUCLG2	8801	hgsc.bcm.edu	37	chr3	67579535	67579535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgttaaatgaacacctcctTtcaaaccactattgaagaca	4	10	1	3	rs74675534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:67579535T>C	ENST00000307227.5	-	3	329	c.302A>G	c.(301-303)aAa>aGa	p.K101R	SUCLG2_ENST00000493112.1_Missense_Mutation_p.K101R|SUCLG2_ENST00000492795.1_Missense_Mutation_p.K101R	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	101	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AACACCTCCTTTCAAACCACT	0.383													T|||	9	0.00179712	0.0008	0.0	5008	,	,		17705	0.0		0.007	False		,,,				2504	0.001				p.K101R		Atlas-SNP	.											.	SUCLG2	95	.	0			c.A302G						PASS	.	T	ARG/LYS,ARG/LYS	6,3664		0,6,1829	156	147	150		302,302	5	1	3	dbSNP_131	150	86,8080		1,84,3998	yes	missense,missense	SUCLG2	NM_001177599.1,NM_003848.3	26,26	1,90,5827	CC,CT,TT		1.0531,0.1635,0.7773	benign,benign	101/441,101/433	67579535	92,11744	1835	4083	5918	SO:0001583	missense	8801	exon3			CCTCCTTTCAAAC	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.302A>G	3.37:g.67579535T>C	ENSP00000307432:p.Lys101Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	102	57	0.558824	NM_001177599	C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	CCDS43104.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	T	17.48	3.401307	0.62288	0.001635	0.010531	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	T;T;T	0.70399	-0.48;-0.48;-0.48	5.01	5.01	0.66863	ATP-grasp fold, subdomain 1 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.143233	0.64402	D	0.000006	T	0.73666	0.3616	M	0.88775	2.98	0.80722	D	1	B	0.25955	0.138	B	0.36766	0.232	T	0.79006	-0.1979	10	0.66056	D	0.02	.	14.7526	0.69536	0.0:0.0:0.0:1.0	.	101	Q96I99	SUCB2_HUMAN	R	101;101;53;101	ENSP00000419325:K101R;ENSP00000307432:K101R;ENSP00000417589:K101R	ENSP00000307432:K101R	K	-	2	0	SUCLG2	67662225	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.957000	0.87870	1.884000	0.54569	0.377000	0.23210	AAA	T|0.993;C|0.007	0.007	strong		0.383	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		C	67579535	T	C	67579535	3	2	23	1	0	0	0	0	1	0	0	0	15364	1841	64	2	1176	2	SUCLG2	3	67579535	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	9460980	67579535	130442895	957	17413										
LMOD3	56203	hgsc.bcm.edu	37	chr3	69167851	69167851	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccctccttctacttacaGgtttaagataggcgacactg	7	12	2	1	rs145387235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:69167851G>T	ENST00000420581.2	-	2	1834	c.1655C>A	c.(1654-1656)cCt>cAt	p.P552H	LMOD3_ENST00000489031.1_Splice_Site_p.P552H|LMOD3_ENST00000475434.1_Splice_Site_p.P552H	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	552	WH2.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTACTTACAGGTTTAAGATA	0.473													G|||	37	0.00738818	0.0008	0.0187	5008	,	,		19795	0.0		0.0219	False		,,,				2504	0.001				p.P552H		Atlas-SNP	.											.	LMOD3	92	.	0			c.C1655A						PASS	.	G	HIS/PRO	18,3888		0,18,1935	63	62	63		1655	5.8	1	3	dbSNP_134	63	140,8154		2,136,4009	yes	missense-near-splice	LMOD3	NM_198271.3	77	2,154,5944	TT,TG,GG		1.688,0.4608,1.2951	probably-damaging	552/561	69167851	158,12042	1953	4147	6100	SO:0001630	splice_region_variant	56203	exon2			CTTACAGGTTTAA	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1656+1C>A	3.37:g.69167851G>T		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	239	113	0.472803	NM_198271	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	21	0.009615384615384616	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	13	0.017150395778364115	G	22.1	4.238686	0.79800	0.004608	0.01688	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.12361	2.69;2.69;2.69	5.84	5.84	0.93424	.	0.171431	0.56097	D	0.000032	T	0.21509	0.0518	M	0.63428	1.95	0.49582	D	0.999808	D	0.76494	0.999	D	0.65573	0.936	T	0.00293	-1.1841	10	0.62326	D	0.03	-12.4636	20.1466	0.98079	0.0:0.0:1.0:0.0	.	552	Q0VAK6	LMOD3_HUMAN	H	552	ENSP00000414670:P552H;ENSP00000417210:P552H;ENSP00000418645:P552H	ENSP00000414670:P552H	P	-	2	0	LMOD3	69250541	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.341000	0.97041	2.779000	0.95612	0.591000	0.81541	CCT	G|0.988;T|0.012	0.012	strong		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529	Missense_Mutation	T	69167851	G	T	69167851	5	4	23	1	0	0	0	0	0	0	1	0	8858	1014	35	4	35	4	LMOD3	3	69167851	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1588316	69167851	128854579	958	17414										
GBE1	2632	hgsc.bcm.edu	37	chr3	81720086	81720086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagttttttgtatgggtacGaaaatggattccaaccatct	8	8	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:81720086G>A	ENST00000429644.2	-	3	975	c.332C>T	c.(331-333)tCg>tTg	p.S111L	GBE1_ENST00000477426.1_5'UTR|GBE1_ENST00000489715.1_Missense_Mutation_p.S70L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	111					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S111L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTATGGGTACGAAAATGGATT	0.338									Glycogen Storage Disease, type IV																												p.S111L		Atlas-SNP	.											GBE1_ENST00000429644,colon,carcinoma,0,1	GBE1	111	1	1	Substitution - Missense(1)	large_intestine(1)	c.C332T						PASS	.						64	60	61					3																	81720086		1816	4085	5901	SO:0001583	missense	2632	exon3	Familial Cancer Database	Andersen Disease, Brancher deficiency	GGGTACGAAAATG		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.332C>T	3.37:g.81720086G>A	ENSP00000410833:p.Ser111Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	104	35	0.336538	NM_000158	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802766	0.70682	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18657	2.2;2.21	5.5	3.72	0.42706	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.57536	1.79	0.38321	D	0.943534	P;D	0.54207	0.888;0.965	B;P	0.51055	0.3;0.657	T	0.14309	-1.0477	10	0.66056	D	0.02	-3.5779	11.1977	0.48722	0.1509:0.0:0.8491:0.0	.	70;111	E9PGM4;Q04446	.;GLGB_HUMAN	L	111;162;70	ENSP00000410833:S111L;ENSP00000419638:S70L	ENSP00000264326:S162L	S	-	2	0	GBE1	81802776	1.000000	0.71417	0.699000	0.30290	0.813000	0.45954	5.642000	0.67888	0.694000	0.31654	0.650000	0.86243	TCG	.	.	none		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			A	81720086	G	A	81720086	3	1	23	1	0	0	0	0	1	0	0	0	6270	1059	37	1	1832	1	GBE1	3	81720086	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12552235	81720086	116302344	959	17415										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89498428	89498428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagctatagcctaccgcaaGttcacgtcagccagcgatgt	10	12	2	0	rs1398197	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:89498428G>A	ENST00000336596.2	+	14	2625	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K	EPHA3_ENST00000494014.1_Silent_p.K800K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTACCGCAAGTTCACGTCAG	0.443										TSP Lung(6;0.00050)			G|||	564	0.11262	0.2625	0.0879	5008	,	,		16928	0.0516		0.0457	False		,,,				2504	0.0593				p.K800K		Atlas-SNP	.											.	EPHA3	501	.	0			c.G2400A						PASS	.	G		999,3407	373.2+/-320.7	121,757,1325	231	216	221		2400	-2.4	1	3	dbSNP_88	221	502,8098	143.9+/-199.8	14,474,3812	no	coding-synonymous	EPHA3	NM_005233.5		135,1231,5137	AA,AG,GG		5.8372,22.6736,11.5408		800/984	89498428	1501,11505	2203	4300	6503	SO:0001819	synonymous_variant	2042	exon14			CCGCAAGTTCACG	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2400G>A	3.37:g.89498428G>A		Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	332	151	0.454819	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																			G|0.889;A|0.111	0.111	strong		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89498428	G	A	89498428	2	1	23	1	0	0	0	0	0	0	0	1	5168	1020	36	2		2	EPHA3	3	89498428	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7778342	89498428	108524002	960	17416										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89521725	89521725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcaaggaaatcttcacgggTgtggagtacagttcttgtga	13	6	3	1	rs1054750	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:89521725T>C	ENST00000336596.2	+	16	3027	c.2802T>C	c.(2800-2802)ggT>ggC	p.G934G	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	934	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCTTCACGGGTGTGGAGTACA	0.413										TSP Lung(6;0.00050)			C|||	649	0.129593	0.0688	0.1916	5008	,	,		19868	0.0813		0.2594	False		,,,				2504	0.0838				p.G934G		Atlas-SNP	.											EPHA3,NS,malignant_melanoma,+2,1	EPHA3	501	1	0			c.T2802C						scavenged	.	C		390,4016	790.6+/-415.0	21,348,1834	115	105	109		2802	1.7	1	3	dbSNP_86	109	2040,6560	720.3+/-406.3	234,1572,2494	no	coding-synonymous	EPHA3	NM_005233.5		255,1920,4328	CC,CT,TT		23.7209,8.8516,18.6837		934/984	89521725	2430,10576	2203	4300	6503	SO:0001819	synonymous_variant	2042	exon16			CACGGGTGTGGAG	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2802T>C	3.37:g.89521725T>C		Somatic	157	2	0.0127389		WXS	Illumina HiSeq	Phase_I	127	65	0.511811	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																			T|0.835;C|0.165	0.165	strong		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89521725	T	C	89521725	2	2	23	1	0	0	0	0	0	0	0	1	5168	1683	59	2		2	EPHA3	3	89521725	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23297	89521725	108500705	961	17417										
ARL13B	200894	hgsc.bcm.edu	37	chr3	93714763	93714763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgataatgctggtaaaacCgcaacagcaaagggaatcca	9	9	0	1	rs146396078	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:93714763C>T	ENST00000394222.3	+	2	380	c.105C>T	c.(103-105)acC>acT	p.T35T	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Silent_p.T35T|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	35					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CTGGTAAAACCGCAACAGCAA	0.299													C|||	29	0.00579073	0.0	0.0187	5008	,	,		16351	0.0		0.0129	False		,,,				2504	0.0031				p.T35T		Atlas-SNP	.											.	ARL13B	52	.	0			c.C105T						PASS	.	C	,,,	6,4400	11.4+/-27.6	0,6,2197	63	69	67		105,,,105	-8	0.7	3	dbSNP_134	67	106,8494	55.6+/-116.7	2,102,4196	no	coding-synonymous,intron,intron,coding-synonymous	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	,,,	2,108,6393	TT,TC,CC		1.2326,0.1362,0.8611	,,,	35/429,,,35/429	93714763	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	200894	exon2			TAAAACCGCAACA	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.105C>T	3.37:g.93714763C>T		Somatic	434	0	0		WXS	Illumina HiSeq	Phase_I	382	208	0.544503	NM_182896	D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	ENST00000394222.3	37	CCDS2925.1																																																																																			C|0.990;T|0.010	0.010	strong		0.299	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		T	93714763	C	T	93714763	2	4	23	1	0	0	0	0	0	0	0	1	929	639	23	1		1	ARL13B	3	93714763	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4193038	93714763	104307667	962	17418										
DHFRL1	200895	hgsc.bcm.edu	37	chr3	93780109	93780109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaatgagctccttgtggagGttccttgagttctctgctga	11	8	1	3	rs61739170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:93780109G>C	ENST00000394221.2	-	2	696	c.247C>G	c.(247-249)Cct>Gct	p.P83A	DHFRL1_ENST00000314636.2_Missense_Mutation_p.P83A|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	83	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.P83A(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						CCTTGTGGAGGTTCCTTGAGT	0.393													G|||	612	0.122204	0.0219	0.2032	5008	,	,		18489	0.1141		0.2306	False		,,,				2504	0.0971				p.P83A		Atlas-SNP	.											DHFRL1,NS,carcinoma,0,1	DHFRL1	25	1	1	Substitution - Missense(1)	stomach(1)	c.C247G						PASS	.	G	ALA/PRO,ALA/PRO	280,4126	151.4+/-185.3	11,258,1934	114	117	116		247,247	0.1	0.4	3	dbSNP_129	116	1978,6622	344.5+/-325.3	216,1546,2538	no	missense,missense	DHFRL1	NM_001195643.1,NM_176815.4	27,27	227,1804,4472	CC,CG,GG		23.0,6.355,17.3612	benign,benign	83/188,83/188	93780109	2258,10748	2203	4300	6503	SO:0001583	missense	200895	exon2			GTGGAGGTTCCTT	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.247C>G	3.37:g.93780109G>C	ENSP00000377768:p.Pro83Ala	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	234	110	0.470085	NM_001195643	D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	CCDS2926.1	329	0.15064102564102563	19	0.03861788617886179	73	0.20165745856353592	68	0.11888111888111888	169	0.22295514511873352	G	0.136	-1.107561	0.01813	0.06355	0.23	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.70869	-0.52;-0.52;-0.52	1.09	0.0854	0.14441	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.127127	0.53938	U	0.000053	T	0.00039	0.0001	N	0.20357	0.565	0.34752	P	0.268081	B	0.09022	0.002	B	0.09377	0.004	T	0.05241	-1.0897	9	0.09084	T	0.74	-8.8976	6.8106	0.23802	0.0:0.2956:0.7044:0.0	rs61739170	83	Q86XF0	DYRL1_HUMAN	A	83	ENSP00000319170:P83A;ENSP00000377768:P83A;ENSP00000420810:P83A	ENSP00000319170:P83A	P	-	1	0	DHFRL1	95262799	0.974000	0.33945	0.410000	0.26471	0.620000	0.37586	0.236000	0.17967	0.028000	0.15324	-0.535000	0.04281	CCT	G|0.833;C|0.167	0.167	strong		0.393	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		C	93780109	G	C	93780109	3	2	23	1	0	0	0	0	1	0	0	0	4482	1261	44	4	320	4	DHFRL1	3	93780109	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	65346	93780109	104242321	963	17419										
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851645	97851645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggcattcttggtaatatAtctcatcaccatcatgggga	8	10	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:97851645A>G	ENST00000354565.2	+	1	104	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	35						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						TTGGTAATATATCTCATCACC	0.408																																					p.Y35C		Atlas-SNP	.											OR5H1,NS,carcinoma,+1,1	OR5H1	71	1	0			c.A104G						scavenged	.						44	48	46					3																	97851645		2156	4222	6378	SO:0001583	missense	26341	exon1			TAATATATCTCAT	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.104A>G	3.37:g.97851645A>G	ENSP00000346575:p.Tyr35Cys	Somatic	691	0	0		WXS	Illumina HiSeq	Phase_I	657	16	0.0243531	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634358	0.29068	.	.	ENSG00000231192	ENST00000354565	T	0.04706	3.57	3.63	3.63	0.41609	.	0.000000	0.38837	N	0.001559	T	0.25568	0.0622	M	0.93016	3.37	0.26808	N	0.96907	D	0.89917	1.0	D	0.75484	0.986	T	0.10520	-1.0626	10	0.87932	D	0	.	10.2248	0.43218	1.0:0.0:0.0:0.0	.	35	A6NKK0	OR5H1_HUMAN	C	35	ENSP00000346575:Y35C	ENSP00000346575:Y35C	Y	+	2	0	OR5H1	99334335	0.980000	0.34600	0.019000	0.16419	0.184000	0.23303	2.621000	0.46418	1.511000	0.48818	0.164000	0.16699	TAT	.	.	none		0.408	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97851645	A	G	97851645	3	3	23	1	0	0	0	0	1	0	0	0	11159	449	16	2	106	2	OR5H1	3	97851645	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4071536	97851645	100170785	964	17420										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97888337	97888337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatgtgggccctgcatctcCgcaagcagatggtcaaaata	11	10	2	1	rs13082608	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:97888337C>T	ENST00000356526.2	+	1	794	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCTGCATCTCCGCAAGCAGAT	0.438													C|||	1563	0.312101	0.2534	0.3444	5008	,	,		15123	0.4782		0.1819	False		,,,				2504	0.3313				p.P265L		Atlas-SNP	.											.	OR5H15	70	.	0			c.C794T						PASS	.	C	LEU/PRO	1035,3371		113,809,1281	86	90	88		794	0.3	0	3	dbSNP_121	88	1565,7035		140,1285,2875	yes	missense	OR5H15	NM_001005515.1	98	253,2094,4156	TT,TC,CC		18.1977,23.4907,19.9908	benign	265/314	97888337	2600,10406	2203	4300	6503	SO:0001583	missense	403274	exon1			CATCTCCGCAAGC		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.794C>T	3.37:g.97888337C>T	ENSP00000373195:p.Pro265Leu	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	225	113	0.502222	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	675	0.3090659340659341	127	0.258130081300813	93	0.2569060773480663	309	0.5402097902097902	146	0.19261213720316622	-	3.880	-0.026185	0.07589	0.234907	0.181977	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00069	8.77	2.48	0.278	0.15673	GPCR, rhodopsin-like superfamily (1);	1.334550	0.05193	N	0.503515	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.18166	0.026	B	0.13407	0.009	T	0.01675	-1.1298	9	0.42905	T	0.14	.	5.1938	0.15225	0.0:0.6419:0.2131:0.1451	rs13082608	265	A6NDH6	O5H15_HUMAN	L	265	ENSP00000373195:P265L	ENSP00000373195:P265L	P	+	2	0	OR5H15	99371027	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.925000	0.00691	0.370000	0.24538	0.184000	0.17185	CCG	C|0.771;T|0.229	0.229	strong		0.438	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			T	97888337	C	T	97888337	3	4	23	1	0	0	0	0	1	0	0	0	11161	652	23	1	796	1	OR5H15	3	97888337	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	36692	97888337	100134093	965	17421										
OR5H6	79295	hgsc.bcm.edu	37	chr3	97983374	97983374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacttattccttgggagtttAgcctttgtggatgcttcgtt	10	7	0	0	rs4857358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:97983374A>G	ENST00000383696.2	+	1	287	c.246A>G	c.(244-246)ttA>ttG	p.L82L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGGGAGTTTAGCCTTTGTGG	0.408													A|||	1469	0.293331	0.3132	0.2695	5008	,	,		21749	0.4891		0.1233	False		,,,				2504	0.2566				p.L82L		Atlas-SNP	.											.	OR5H6	89	.	0			c.A246G						PASS	.	A		1375,3031		220,935,1048	200	208	205		246	-4.4	0	3	dbSNP_111	205	1031,7569		56,919,3325	no	coding-synonymous	OR5H6	NM_001005479.1		276,1854,4373	GG,GA,AA		11.9884,31.2074,18.4992		82/326	97983374	2406,10600	2203	4300	6503	SO:0001819	synonymous_variant	79295	exon1			GAGTTTAGCCTTT	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.246A>G	3.37:g.97983374A>G		Somatic	791	2	0.00252845		WXS	Illumina HiSeq	Phase_I	774	355	0.458656	NM_001005479	Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																			A|0.785;G|0.215	0.215	strong		0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			G	97983374	A	G	97983374	2	3	23	1	0	0	0	0	0	0	0	1	11163	417	15	3		3	OR5H6	3	97983374	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	95037	97983374	100039056	966	17422										
OR5H6	79295	hgsc.bcm.edu	37	chr3	97983602	97983602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaccaatgaactatgcatTcagctattagtcttgtcatt	6	8	3	2	rs75354046	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																					p.I158I		Atlas-SNP	.											OR5H6,adrenal_gland,adrenal_cortical_adenoma,0,1	OR5H6	89	1	0			c.T474C						scavenged	.						109	102	104					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	79295	exon1			ATGCATTCAGCTA	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	253	8	0.0316206	NM_001005479	Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																			T|0.898;C|0.102	0.102	strong		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983602	T	C	97983602	2	2	23	1	0	0	0	0	0	0	0	1	11163	1771	62	2		2	OR5H6	3	97983602	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	228	97983602	100038828	967	17423										
OR5H2	79310	hgsc.bcm.edu	37	chr3	98002587	98002587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actctgtcttttatacaatcAtaattcctttgctaaatccc	2	11	3	0	rs16839611	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:98002587A>G	ENST00000355273.2	+	1	856	c.856A>G	c.(856-858)Ata>Gta	p.I286V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	286			I -> V (in dbSNP:rs16839611).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTATACAATCATAATTCCTTT	0.328													A|||	2547	0.508586	0.6626	0.4524	5008	,	,		17384	0.75		0.2296	False		,,,				2504	0.3783				p.I286V		Atlas-SNP	.											.	OR5H2	63	.	0			c.A856G						PASS	.	A	VAL/ILE	2689,1717	644.4+/-398.0	815,1059,329	53	51	51		856	-1.4	0	3	dbSNP_123	51	2102,6498	358.0+/-331.0	273,1556,2471	yes	missense	OR5H2	NM_001005482.1	29	1088,2615,2800	GG,GA,AA		24.4419,38.9696,36.8368	possibly-damaging	286/315	98002587	4791,8215	2203	4300	6503	SO:0001583	missense	79310	exon1			ACAATCATAATTC		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.856A>G	3.37:g.98002587A>G	ENSP00000347418:p.Ile286Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	114	46	0.403509	NM_001005482	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	1099	0.5032051282051282	316	0.6422764227642277	152	0.4198895027624309	451	0.7884615384615384	180	0.23746701846965698	A	0	-2.745156	0.00087	0.610304	0.244419	ENSG00000197938	ENST00000355273	T	0.00018	9.07	3.03	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	0.337021	0.21263	N	0.077457	T	0.00012	0.0000	N	0.02403	-0.565	0.80722	P	0.0	P	0.46706	0.883	P	0.50570	0.644	T	0.48502	-0.9030	9	0.02654	T	1	.	4.6526	0.12603	0.4826:0.3037:0.2137:0.0	rs16839611;rs52809881;rs61556920;rs16839611	286	Q8NGV7	OR5H2_HUMAN	V	286	ENSP00000347418:I286V	ENSP00000347418:I286V	I	+	1	0	OR5H2	99485277	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.054000	0.11826	-0.778000	0.04566	-1.509000	0.00949	ATA	A|0.567;G|0.433	0.433	strong		0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			G	98002587	A	G	98002587	3	3	23	1	0	0	0	0	1	0	0	0	11162	217	8	2	858	2	OR5H2	3	98002587	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	18985	98002587	100019843	968	17424										
OR5K4	403278	hgsc.bcm.edu	37	chr3	98073313	98073313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatatatcttttcaataccaAttcaaatctttaccattgct	1	9	4	0	rs9822460	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:98073313A>G	ENST00000354924.2	+	1	616	c.616A>G	c.(616-618)Att>Gtt	p.I206V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	206			I -> V (in dbSNP:rs9822460).			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)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCAATACCAATTCAAATCTT	0.328													A|||	1168	0.233227	0.2451	0.232	5008	,	,		18812	0.1726		0.2217	False		,,,				2504	0.2924				p.I206V		Atlas-SNP	.											.	OR5K4	75	.	0			c.A616G						PASS	.	A	VAL/ILE	1199,3207	415.0+/-337.0	180,839,1184	81	82	82		616	2.7	1	3	dbSNP_119	82	1757,6843	317.6+/-313.3	180,1397,2723	yes	missense	OR5K4	NM_001005517.1	29	360,2236,3907	GG,GA,AA		20.4302,27.2129,22.728	benign	206/322	98073313	2956,10050	2203	4300	6503	SO:0001583	missense	403278	exon1			ATACCAATTCAAA		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.616A>G	3.37:g.98073313A>G	ENSP00000347003:p.Ile206Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	157	90	0.573248	NM_001005517		Missense_Mutation	SNP	ENST00000354924.2	37	CCDS33802.1	447	0.20467032967032966	116	0.23577235772357724	78	0.2154696132596685	81	0.14160839160839161	172	0.22691292875989447	A	3.044	-0.196857	0.06259	0.272129	0.204302	ENSG00000196098	ENST00000354924	T	0.00044	8.83	5.06	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33057	U	0.005331	T	0.00012	0.0000	N	0.25094	0.71	0.49687	P	1.8300000000004424E-4	B	0.16603	0.018	B	0.25405	0.06	T	0.04128	-1.0975	9	0.02654	T	1	-10.2086	7.8213	0.29290	0.827:0.0:0.173:0.0	rs9822460;rs52816954;rs9822460	206	A6NMS3	OR5K4_HUMAN	V	206	ENSP00000347003:I206V	ENSP00000347003:I206V	I	+	1	0	OR5K4	99556003	0.000000	0.05858	0.987000	0.45799	0.961000	0.63080	-0.114000	0.10757	0.493000	0.27837	0.491000	0.48974	ATT	A|0.782;G|0.218	0.218	strong		0.328	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			G	98073313	A	G	98073313	3	3	23	1	0	0	0	0	1	0	0	0	11169	101	4	2	618	2	OR5K4	3	98073313	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	70726	98073313	99949117	969	17425										
OR5K3	403277	hgsc.bcm.edu	37	chr3	98109640	98109640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccatggtggggaacattgGtttggtggcattgatttata	13	5	0	1	rs13068323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:98109640G>A	ENST00000383695.1	+	1	131	c.131G>A	c.(130-132)gGt>gAt	p.G44D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	44			G -> D (in dbSNP:rs13068323).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GGGAACATTGGTTTGGTGGCA	0.413													G|||	825	0.164736	0.1271	0.1153	5008	,	,		21130	0.2222		0.162	False		,,,				2504	0.1943				p.G44D		Atlas-SNP	.											OR5K3,rectum,carcinoma,-1,1	OR5K3	60	1	0			c.G131A						PASS	.	G	ASP/GLY	594,3812	260.1+/-263.5	41,512,1650	277	258	264		131	5.3	0.9	3	dbSNP_121	264	1263,7337	252.8+/-278.7	96,1071,3133	yes	missense	OR5K3	NM_001005516.1	94	137,1583,4783	AA,AG,GG		14.686,13.4816,14.278	probably-damaging	44/322	98109640	1857,11149	2203	4300	6503	SO:0001583	missense	403277	exon1			ACATTGGTTTGGT		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.131G>A	3.37:g.98109640G>A	ENSP00000373194:p.Gly44Asp	Somatic	476	1	0.00210084		WXS	Illumina HiSeq	Phase_I	422	213	0.504739	NM_001005516		Missense_Mutation	SNP	ENST00000383695.1	37	CCDS33803.1	362	0.16575091575091574	69	0.1402439024390244	50	0.13812154696132597	114	0.1993006993006993	129	0.17018469656992086	G	12.49	1.955038	0.34471	0.134816	0.14686	ENSG00000206536	ENST00000383695	T	0.01981	4.52	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000846	T	0.00012	0.0000	M	0.93462	3.42	0.58432	P	8.000000000008E-6	D	0.58268	0.982	D	0.65010	0.931	T	0.01972	-1.1237	9	0.87932	D	0	-25.2713	11.9377	0.52882	0.0:0.0:0.8262:0.1737	rs13068323;rs13068323	44	A6NET4	OR5K3_HUMAN	D	44	ENSP00000373194:G44D	ENSP00000373194:G44D	G	+	2	0	OR5K3	99592330	0.000000	0.05858	0.936000	0.37596	0.090000	0.18270	-0.556000	0.05992	2.633000	0.89246	0.603000	0.83216	GGT	G|0.846;A|0.154	0.154	strong		0.413	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			A	98109640	G	A	98109640	3	1	23	1	0	0	0	0	1	0	0	0	11168	1261	44	2	133	2	OR5K3	3	98109640	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36327	98109640	99912790	970	17426										
TMEM45A	55076	hgsc.bcm.edu	37	chr3	100274090	100274090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtcatgccctccctggaaCcttcttttttattattggtc	7	11	2	0	rs200878698		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:100274090C>A	ENST00000323523.4	+	2	348	c.35C>A	c.(34-36)aCc>aAc	p.T12N	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000403410.1_Missense_Mutation_p.T28N	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	12						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTCCCTGGAACCTTCTTTTTT	0.368																																					p.T12N		Atlas-SNP	.											TMEM45A,NS,carcinoma,+1,1	TMEM45A	35	1	0			c.C35A						PASS	.	C	ASN/THR	0,4406		0,0,2203	166	176	172		35	-0.4	0.6	3		172	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM45A	NM_018004.1	65	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	benign	12/276	100274090	2,13004	2203	4300	6503	SO:0001583	missense	55076	exon2			CTGGAACCTTCTT	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.35C>A	3.37:g.100274090C>A	ENSP00000319009:p.Thr12Asn	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	156	68	0.435897	NM_018004	Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740553	0.30865	0.0	2.33E-4	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.50001	1.39;1.38;0.76	5.84	-0.364	0.12553	.	0.370601	0.35349	N	0.003273	T	0.45135	0.1327	M	0.62723	1.935	0.25270	N	0.989529	B;P	0.47106	0.22;0.89	B;B	0.39876	0.036;0.312	T	0.52711	-0.8539	10	0.59425	D	0.04	0.3845	17.6844	0.88253	0.0:0.1546:0.7715:0.0738	.	28;12	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	N	12;28;28	ENSP00000319009:T12N;ENSP00000385089:T28N;ENSP00000405597:T28N	ENSP00000319009:T12N	T	+	2	0	TMEM45A	101756780	1.000000	0.71417	0.567000	0.28434	0.432000	0.31715	0.710000	0.25748	-0.406000	0.07588	-0.150000	0.13652	ACC	.	.	weak		0.368	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		A	100274090	C	A	100274090	3	1	23	1	0	0	0	0	1	0	0	0	16166	507	18	4	37	4	TMEM45A	3	100274090	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2164450	100274090	97748340	971	17427										
TMEM45A	55076	hgsc.bcm.edu	37	chr3	100287764	100287764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatgcttttgttggcattaTgcagtaaccattgtcatcgt	8	7	1	0	rs28722928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:100287764T>C	ENST00000323523.4	+	5	1000	c.687T>C	c.(685-687)taT>taC	p.Y229Y	TMEM45A_ENST00000403410.1_Silent_p.Y245Y	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	229						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GTTGGCATTATGCAGTAACCA	0.393													T|||	1251	0.2498	0.3835	0.2493	5008	,	,		19660	0.3185		0.1213	False		,,,				2504	0.1309				p.Y229Y		Atlas-SNP	.											.	TMEM45A	35	.	0			c.T687C						PASS	.	T		1506,2900	479.4+/-358.5	266,974,963	261	252	255		687	-2.4	0.1	3	dbSNP_125	255	1044,7556	220.8+/-258.4	63,918,3319	no	coding-synonymous	TMEM45A	NM_018004.1		329,1892,4282	CC,CT,TT		12.1395,34.1807,19.6063		229/276	100287764	2550,10456	2203	4300	6503	SO:0001819	synonymous_variant	55076	exon5			GCATTATGCAGTA	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.687T>C	3.37:g.100287764T>C		Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	232	112	0.482759	NM_018004	Q53YW5	Silent	SNP	ENST00000323523.4	37	CCDS2937.1																																																																																			T|0.783;C|0.217	0.217	strong		0.393	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		C	100287764	T	C	100287764	2	2	23	1	0	0	0	0	0	0	0	1	16166	1471	51	2		2	TMEM45A	3	100287764	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	13674	100287764	97734666	972	17428										
TFG	10342	hgsc.bcm.edu	37	chr3	100455433	100455433	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatccagggccacccagtgcTcctgcagaagatcgttcagg	11	13	1	2	rs12562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:100455433T>G	ENST00000240851.4	+	6	934	c.594T>G	c.(592-594)gcT>gcG	p.A198A	TFG_ENST00000476228.1_Silent_p.A198A|TFG_ENST00000490574.1_Silent_p.A198A|TFG_ENST00000418917.2_Silent_p.A198A	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	198					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCAGTGCTCCTGCAGAAG	0.507			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								T|||	2	0.000399361	0.0	0.0	5008	,	,		17057	0.0		0.002	False		,,,				2504	0.0				p.A198A		Atlas-SNP	.		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	.	TFG	42	.	0			c.T594G						PASS	.	T	,,,	9,4397	15.5+/-35.6	0,9,2194	69	63	65		594,594,594,594	2.6	1	3	dbSNP_52	65	69,8531	41.7+/-99.0	0,69,4231	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TFG	NM_001007565.2,NM_001195478.1,NM_001195479.1,NM_006070.5	,,,	0,78,6425	GG,GT,TT		0.8023,0.2043,0.5997	,,,	198/401,198/401,198/397,198/401	100455433	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	10342	exon6			CAGTGCTCCTGCA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.594T>G	3.37:g.100455433T>G		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	256	132	0.515625	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	CCDS2939.1																																																																																			T|0.993;G|0.007	0.007	strong		0.507	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		G	100455433	T	G	100455433	2	3	23	1	0	0	0	0	0	0	0	1	15803	1538	54	5		5	TFG	3	100455433	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	167669	100455433	97566997	973	17429										
ABI3BP	25890	hgsc.bcm.edu	37	chr3	100617680	100617680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaccccaggacaggaagacCgagctcggtgtcagagtgcc	13	12	1	2	rs2245370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:100617680C>T	ENST00000284322.5	-	4	517	c.408G>A	c.(406-408)tcG>tcA	p.S136S	ABI3BP_ENST00000495063.1_Silent_p.S136S|ABI3BP_ENST00000532144.1_Intron|ABI3BP_ENST00000471714.1_Silent_p.S136S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	136	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACAGGAAGACCGAGCTCGGTG	0.473													C|||	3646	0.728035	0.7519	0.6715	5008	,	,		19837	0.9335		0.5239	False		,,,				2504	0.7342				p.S136S		Atlas-SNP	.											.	ABI3BP	305	.	0			c.G408A						PASS	.	C		2988,1252		1079,830,211	96	106	103		408	-10.9	0.4	3	dbSNP_100	103	4166,4334		1012,2142,1096	no	coding-synonymous	ABI3BP	NM_015429.3		2091,2972,1307	TT,TC,CC		49.0118,29.5283,43.8462		136/1076	100617680	7154,5586	2120	4250	6370	SO:0001819	synonymous_variant	25890	exon4			GAAGACCGAGCTC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.408G>A	3.37:g.100617680C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	88	34	0.386364	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	CCDS46880.1																																																																																			C|0.280;T|0.720	0.720	strong		0.473	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			T	100617680	C	T	100617680	2	4	23	1	0	0	0	0	0	0	0	1	91	639	23	1		1	ABI3BP	3	100617680	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	162247	100617680	97404750	974	17430										
ALCAM	214	hgsc.bcm.edu	37	chr3	105260524	105260524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatacttacacactgacggaTgtgaggcgcaatgcaacagg	11	9	0	2	rs35271455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:105260524T>C	ENST00000306107.5	+	8	1406	c.906T>C	c.(904-906)gaT>gaC	p.D302D	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Silent_p.D302D|ALCAM_ENST00000486979.2_Silent_p.D251D	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	302	Ig-like C2-type 1.				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						CACTGACGGATGTGAGGCGCA	0.418													T|||	35	0.00698882	0.0	0.0	5008	,	,		19669	0.0		0.0179	False		,,,				2504	0.0174				p.D302D		Atlas-SNP	.											.	ALCAM	71	.	0			c.T906C						PASS	.	T		17,4389	23.3+/-48.9	0,17,2186	170	136	148		906	2.5	1	3	dbSNP_126	148	100,8500	55.2+/-116.2	0,100,4200	no	coding-synonymous	ALCAM	NM_001627.3		0,117,6386	CC,CT,TT		1.1628,0.3858,0.8996		302/584	105260524	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	214	exon8			GACGGATGTGAGG	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.906T>C	3.37:g.105260524T>C		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	102	49	0.480392	NM_001627	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	CCDS33810.1																																																																																			T|0.991;C|0.009	0.009	strong		0.418	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		C	105260524	T	C	105260524	2	2	23	1	0	0	0	0	0	0	0	1	487	1461	51	2		2	ALCAM	3	105260524	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4642844	105260524	92761906	975	17431										
HHLA2	11148	hgsc.bcm.edu	37	chr3	108081247	108081247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggattttggtgccctctgcGattttggcagcttttctgct	11	9	2	0	rs16854512	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:108081247G>A	ENST00000357759.5	+	7	1476	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	HHLA2_ENST00000467761.1_Silent_p.A354A|HHLA2_ENST00000467562.1_Silent_p.A290A|HHLA2_ENST00000489514.2_Silent_p.A354A|HHLA2_ENST00000491820.1_Silent_p.A354A	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	354					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGCCCTCTGCGATTTTGGCAG	0.418													G|||	773	0.154353	0.2292	0.1686	5008	,	,		18023	0.0536		0.1928	False		,,,				2504	0.1074				p.A354A		Atlas-SNP	.											.	HHLA2	95	.	0			c.G1062A						PASS	.	G		739,2921		83,573,1174	119	107	110		1062	0.4	0	3	dbSNP_123	110	1620,6564		143,1334,2615	no	coding-synonymous	HHLA2	NM_007072.2		226,1907,3789	AA,AG,GG		19.7947,20.1913,19.9173		354/415	108081247	2359,9485	1830	4092	5922	SO:0001819	synonymous_variant	11148	exon7			CTCTGCGATTTTG	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1062G>A	3.37:g.108081247G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	94	35	0.37234	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	CCDS46883.1	331	0.15155677655677655	106	0.21544715447154472	71	0.19613259668508287	16	0.027972027972027972	138	0.1820580474934037	G	2.730	-0.264632	0.05754	0.201913	0.197947	ENSG00000114455	ENST00000482099	.	.	.	3.38	0.437	0.16555	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.25293	-1.0136	3	.	.	.	-15.2717	2.5227	0.04683	0.2695:0.0:0.4973:0.2332	rs16854512;rs60599253;rs16854512	.	.	.	N	257	.	.	D	+	1	0	HHLA2	109563937	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.619000	0.05572	0.067000	0.16545	-0.258000	0.10820	GAT	G|0.836;A|0.164	0.164	strong		0.418	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		A	108081247	G	A	108081247	2	1	23	1	0	0	0	0	0	0	0	1	7095	1045	37	1		1	HHLA2	3	108081247	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2820723	108081247	89941183	976	17432										
RETNLB	84666	hgsc.bcm.edu	37	chr3	108475974	108475974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaacactgagtactccccGggttgatcagctggagaagg	14	9	1	3	rs11708527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:108475974G>A	ENST00000295755.6	-	1	257	c.59C>T	c.(58-60)cCg>cTg	p.P20L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	20			P -> L (in dbSNP:rs11708527).		cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGTACTCCCCGGGTTGATCAG	0.532													G|||	1005	0.200679	0.1165	0.232	5008	,	,		19248	0.0377		0.2783	False		,,,				2504	0.3804				p.P20L		Atlas-SNP	.											RETNLB,NS,carcinoma,+1,1	RETNLB	38	1	0			c.C59T						scavenged	.	G	LEU/PRO	644,3762	276.6+/-273.2	45,554,1604	68	62	64		59	2.5	0	3	dbSNP_120	64	2467,6133	405.7+/-348.6	360,1747,2193	yes	missense	RETNLB	NM_032579.2	98	405,2301,3797	AA,AG,GG		28.686,14.6164,23.9197	possibly-damaging	20/112	108475974	3111,9895	2203	4300	6503	SO:0001583	missense	84666	exon1			CTCCCCGGGTTGA	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.59C>T	3.37:g.108475974G>A	ENSP00000295755:p.Pro20Leu	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	79	43	0.544304	NM_032579	Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	CCDS2953.1	352	0.16117216117216118	43	0.08739837398373984	76	0.20994475138121546	23	0.04020979020979021	210	0.2770448548812665	G	12.09	1.833577	0.32421	0.146164	0.28686	ENSG00000163515	ENST00000295755	T	0.41758	0.99	4.38	2.52	0.30459	.	0.512899	0.16570	N	0.208678	T	0.00012	0.0000	L	0.49126	1.545	0.80722	P	0.0	P	0.41848	0.763	B	0.28638	0.092	T	0.30822	-0.9965	9	0.48119	T	0.1	-0.3382	5.1548	0.15029	0.1077:0.0:0.6897:0.2027	rs11708527;rs52797386;rs57988437;rs11708527	20	Q9BQ08	RETNB_HUMAN	L	20	ENSP00000295755:P20L	ENSP00000295755:P20L	P	-	2	0	RETNLB	109958664	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	0.091000	0.15046	0.450000	0.26774	0.655000	0.94253	CCG	G|0.795;A|0.205	0.205	strong		0.532	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			A	108475974	G	A	108475974	3	1	23	1	0	0	0	0	1	0	0	0	13237	1116	39	1	288	1	RETNLB	3	108475974	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	394727	108475974	89546456	977	17433										
GUCA1C	9626	hgsc.bcm.edu	37	chr3	108639384	108639384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctccattttttcttgcaTgattagatttacagcagcaa	6	8	1	2	rs6804162	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:108639384T>C	ENST00000261047.3	-	2	385	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.M85V|GUCA1C_ENST00000471108.1_Missense_Mutation_p.M85V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		M -> V (in dbSNP:rs6804162).		phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTTTCTTGCATGATTAGATTT	0.289													C|||	1688	0.337061	0.438	0.2522	5008	,	,		18067	0.25		0.3807	False		,,,				2504	0.3057				p.M85V	NSCLC(157;1360 1999 30631 40189 44208)	Atlas-SNP	.											.	GUCA1C	39	.	0			c.A253G						PASS	.	C	VAL/MET	1844,2562	630.5+/-395.5	393,1058,752	77	74	75		253	3.1	0	3	dbSNP_116	75	3062,5534	657.8+/-401.5	548,1966,1784	yes	missense	GUCA1C	NM_005459.3	21	941,3024,2536	CC,CT,TT		35.6212,41.852,37.7327	benign	85/210	108639384	4906,8096	2203	4298	6501	SO:0001583	missense	9626	exon2			CTTGCATGATTAG	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.253A>G	3.37:g.108639384T>C	ENSP00000261047:p.Met85Val	Somatic	362	0	0		WXS	Illumina HiSeq	Phase_I	318	315	0.990566	NM_005459	O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	CCDS2954.1	741	0.3392857142857143	205	0.4166666666666667	93	0.2569060773480663	143	0.25	300	0.39577836411609496	C	6.052	0.377909	0.11466	0.41852	0.356212	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.40476	1.03;1.03;1.03	5.17	3.1	0.35709	EF-hand-like domain (1);	0.215490	0.39909	N	0.001229	T	0.00012	0.0000	N	0.11255	0.115	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44757	-0.9307	9	0.06236	T	0.91	.	2.791	0.05388	0.2015:0.4347:0.0:0.3638	rs6804162;rs52828740;rs56507439;rs56791641;rs6804162	85;85	C9JNI2;O95843	.;GUC1C_HUMAN	V	85	ENSP00000377535:M85V;ENSP00000261047:M85V;ENSP00000417761:M85V	ENSP00000261047:M85V	M	-	1	0	GUCA1C	110122074	0.009000	0.17119	0.005000	0.12908	0.729000	0.41735	-0.034000	0.12225	0.598000	0.29829	-0.186000	0.12905	ATG	T|0.647;C|0.353	0.353	strong		0.289	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		C	108639384	T	C	108639384	3	2	23	1	0	0	0	0	1	0	0	0	6890	1464	51	2	388	2	GUCA1C	3	108639384	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	163410	108639384	89383046	978	17434										
TAGLN3	29114	hgsc.bcm.edu	37	chr3	111719786	111719786	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctttcagacggtggatctAtgggaaggtaaacagccccc	11	10	3	1	rs2292583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:111719786A>T	ENST00000393917.2	+	3	900	c.348A>T	c.(346-348)ctA>ctT	p.L116L	TAGLN3_ENST00000478951.1_Silent_p.L116L|TAGLN3_ENST00000486460.1_Silent_p.L32L|TAGLN3_ENST00000273368.4_Silent_p.L116L|TAGLN3_ENST00000455401.2_Silent_p.L116L	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						CGGTGGATCTATGGGAAGGTA	0.488													A|||	662	0.132188	0.0129	0.1643	5008	,	,		20800	0.3026		0.0716	False		,,,				2504	0.1575				p.L116L		Atlas-SNP	.											.	TAGLN3	44	.	0			c.A348T						PASS	.	A	,,	135,4271	97.6+/-136.3	2,131,2070	113	116	115		348,348,348	-11.7	0	3	dbSNP_100	115	676,7924	169.4+/-220.8	27,622,3651	no	coding-synonymous,coding-synonymous,coding-synonymous	TAGLN3	NM_001008272.1,NM_001008273.1,NM_013259.2	,,	29,753,5721	TT,TA,AA		7.8605,3.064,6.2356	,,	116/200,116/200,116/200	111719786	811,12195	2203	4300	6503	SO:0001819	synonymous_variant	29114	exon3			GGATCTATGGGAA	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.348A>T	3.37:g.111719786A>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_001008272	D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	CCDS33816.1																																																																																			A|0.919;T|0.081	0.081	strong		0.488	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		T	111719786	A	T	111719786	2	4	23	1	0	0	0	0	0	0	0	1	15537	436	16	5		5	TAGLN3	3	111719786	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3080402	111719786	86302644	979	17435										
SLC9A10	285335	hgsc.bcm.edu	37	chr3	111983157	111983157	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaagaaagtaaacaccatGagaaaagcaatacgtgatag	8	7	0	3	rs62276974	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:111983157G>A	ENST00000305815.5	-	9	1164	c.912C>T	c.(910-912)ctC>ctT	p.L304L	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	304					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TAAACACCATGAGAAAAGCAA	0.244													G|||	609	0.121605	0.1346	0.1354	5008	,	,		13446	0.0109		0.2604	False		,,,				2504	0.0654				p.L304L		Atlas-SNP	.											.	.	.	.	0			c.C912T						PASS	.	G		638,3710		46,546,1582	35	37	36		912	-2.9	1	3	dbSNP_129	36	2040,6468		240,1560,2454	no	coding-synonymous	SLC9A10	NM_183061.1		286,2106,4036	AA,AG,GG		23.9774,14.6734,20.8307		304/1178	111983157	2678,10178	2174	4254	6428	SO:0001819	synonymous_variant	285335	exon9			CACCATGAGAAAA	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.912C>T	3.37:g.111983157G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	147	70	0.47619	NM_183061	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																			G|0.803;A|0.197	0.197	strong		0.244	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		A	111983157	G	A	111983157	2	1	23	1	0	0	0	0	0	0	0	1	14710	1277	45	2		2	SLC9A10	3	111983157	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	263371	111983157	86039273	980	17436										
CD200R1L	344807	hgsc.bcm.edu	37	chr3	112545911	112545911	+	Frame_Shift_Del	DEL	T	T	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaggtcacagtagacttgTggccctcccaggggcatgta					rs58161637|rs200703227	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:112545911delT	ENST00000398214.1	-	4	833	c.608delA	c.(607-609)cacfs	p.H203fs	CD200R1L_ENST00000488794.1_Frame_Shift_Del_p.H182fs|CD200R1L_ENST00000448932.1_Frame_Shift_Del_p.H182fs	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	203	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.H203P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGTAGACTTGTGGCCCTCCCA	0.493													T|T|-|deletion	841	0.167931	0.0953	0.2133	5008	,	,		17526	0.0625		0.3231	False		,,,				2504	0.183				p.H203fs		Pindel,Atlas-Indel	.											CD200R1L,NS,carcinoma,-1,1	CD200R1L	47	1	1	Substitution - Missense(1)	lung(1)	c.609delC						PASS	.		,	560,3704		37,486,1609	55	49	51		,	1.4	0	3	dbSNP_129	64	2613,5641		429,1755,1943	yes	frameshift,frameshift	CD200R1L	NM_001199215.1,NM_001008784.2	,	466,2241,3552	A1A1,A1R,RR		31.6574,13.1332,25.3475	,	,	112545911	3173,9345	2175	4016	6191	SO:0001589	frameshift_variant	344807	exon4			.	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.608delA	3.37:g.112545911delT	ENSP00000381272:p.His203fs	Somatic	162	.	.		WXS	Illumina HiSeq	Phase_I	167	89	0.533	NM_001008784	Q6WHB7	Frame_Shift_Del	DEL	ENST00000398214.1	37	CCDS43131.1																																																																																			T|0.815;-|0.185	0.185	strong		0.493	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		-	112545911	T	-	112545911	7	5	23	1	0	1	0	1	0	0	0	0	2982	1696	59	0	219	0	CD200R1L	3	112545911	Frame_Shift_Del	DEL	T	TCGA-GR-7353-01A-11D-2210-10	562754	112545911	85476519	981	17437										
WDR52	55779	hgsc.bcm.edu	37	chr3	113128051	113128051	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcttttgtccttagtatGggttgttcttctttccagtt	8	7	2	0	rs13059888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113128051G>T	ENST00000295868.2	-	7	954	c.792C>A	c.(790-792)ccC>ccA	p.P264P	WDR52_ENST00000393845.2_Silent_p.P264P|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCCTTAGTATGGGTTGTTCTT	0.423													G|||	248	0.0495208	0.0136	0.0807	5008	,	,		16702	0.001		0.1412	False		,,,				2504	0.0317				p.P264P		Atlas-SNP	.											.	WDR52	151	.	0			c.C792A						PASS	.	G	,	98,4308	79.3+/-117.8	1,96,2106	144	139	141		792,792	2	1	3	dbSNP_121	141	1129,7471	232.8+/-266.3	80,969,3251	no	coding-synonymous,coding-synonymous	WDR52	NM_001164496.1,NM_018338.3	,	81,1065,5357	TT,TG,GG		13.1279,2.2242,9.4341	,	264/1855,264/983	113128051	1227,11779	2203	4300	6503	SO:0001819	synonymous_variant	55779	exon7			TAGTATGGGTTGT																												ENST00000295868.2:c.792C>A	3.37:g.113128051G>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	111	45	0.405405	NM_001164496		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																			G|0.919;T|0.081	0.081	strong		0.423	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			T	113128051	G	T	113128051	2	4	23	1	0	0	0	0	0	0	0	1	17301	1335	47	4		4	WDR52	3	113128051	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	582140	113128051	84894379	982	17438										
SIDT1	54847	hgsc.bcm.edu	37	chr3	113320477	113320477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcccattgctgccagcaCacccgaagggagcaattatg	9	13	1	0	rs33990195	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113320477C>T	ENST00000264852.4	+	11	1814	c.1088C>T	c.(1087-1089)aCa>aTa	p.T363I	SIDT1_ENST00000393830.3_Missense_Mutation_p.T363I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	363			T -> I (in dbSNP:rs33990195).		dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCTGCCAGCACACCCGAAGGG	0.418													C|||	227	0.0453275	0.0068	0.0605	5008	,	,		19620	0.0407		0.0994	False		,,,				2504	0.0358				p.T363I		Atlas-SNP	.											SIDT1,colon,carcinoma,-1,1	SIDT1	99	1	0			c.C1088T						PASS	.	C	ILE/THR	64,4342	60.5+/-97.4	2,60,2141	118	104	109		1088	6.1	1	3	dbSNP_126	109	872,7728	197.6+/-242.2	52,768,3480	yes	missense	SIDT1	NM_017699.2	89	54,828,5621	TT,TC,CC		10.1395,1.4526,7.1967	possibly-damaging	363/828	113320477	936,12070	2203	4300	6503	SO:0001583	missense	54847	exon11			CCAGCACACCCGA	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1088C>T	3.37:g.113320477C>T	ENSP00000264852:p.Thr363Ile	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	184	88	0.478261	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	122	0.055860805860805864	6	0.012195121951219513	23	0.06353591160220995	26	0.045454545454545456	67	0.08839050131926121	C	16.59	3.166585	0.57476	0.014526	0.101395	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	6.07	6.07	0.98685	.	0.083258	0.52532	D	0.000080	T	0.00666	0.0022	L	0.34521	1.04	0.54753	D	0.999988	B;B	0.30727	0.248;0.292	B;B	0.33846	0.136;0.171	T	0.01993	-1.1233	10	0.32370	T	0.25	-16.7075	20.6593	0.99626	0.0:1.0:0.0:0.0	rs33990195	363;363	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	I	363	ENSP00000264852:T363I;ENSP00000377416:T363I	ENSP00000264852:T363I	T	+	2	0	SIDT1	114803167	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	5.080000	0.64437	2.885000	0.99019	0.655000	0.94253	ACA	C|0.924;T|0.076	0.076	strong		0.418	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113320477	C	T	113320477	3	4	23	1	0	0	0	0	1	0	0	0	14302	478	17	2	1130	2	SIDT1	3	113320477	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	192426	113320477	84701953	983	17439										
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376113	113376113	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttgttgttgttgctgttgCtgctgctgctgctgctgctg					rs62265537|rs59601191|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113376113C>T	ENST00000478658.1	-	5	4433	c.4416G>A	c.(4414-4416)caG>caA	p.Q1472Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1472Q			Q68DE3	K2018_HUMAN	KIAA2018	1472	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgttgctgctgctgct	0.502																																					p.Q1472Q		Atlas-SNP	.											KIAA2018,rectum,carcinoma,0,1	KIAA2018	180	1	0			c.G4416A						scavenged	.						68	71	70					3																	113376113		2188	4274	6462	SO:0001819	synonymous_variant	205717	exon7			CTGTTGCTGCTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416G>A	3.37:g.113376113C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	69	3	0.0434783	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.	.	weak		0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376113	C	T	113376113	2	4	23	1	0	0	0	0	0	0	0	1	8268	796	28	2		2	KIAA2018	3	113376113	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	55636	113376113	84646317	984	17440	367	2								
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376119	113376119	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgttgctgttgctgctgCtgctgctgctgctgctgctg					rs62265538|rs112313093|rs59601191		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113376119C>T	ENST00000478658.1	-	5	4427	c.4410G>A	c.(4408-4410)caG>caA	p.Q1470Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1470Q			Q68DE3	K2018_HUMAN	KIAA2018	1470	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgctgctgctgctgct	0.493																																					p.Q1470Q		Atlas-SNP	.											KIAA2018,rectum,carcinoma,0,1	KIAA2018	180	1	0			c.G4410A						PASS	.						58	65	63					3																	113376119		2185	4279	6464	SO:0001819	synonymous_variant	205717	exon7			CTGCTGCTGCTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4410G>A	3.37:g.113376119C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	122	16	0.131148	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			C|0.500;T|0.500	0.500	weak		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376119	C	T	113376119	2	4	23	1	0	0	0	0	0	0	0	1	8268	796	28	2		2	KIAA2018	3	113376119	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6	113376119	84646311	985	17441	367	2								
GRAMD1C	54762	hgsc.bcm.edu	37	chr3	113594377	113594377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttgcttcagggacgactAtacctttcagaaaactggct	8	9	2	1	rs13079383	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113594377A>G	ENST00000358160.4	+	4	798	c.306A>G	c.(304-306)ctA>ctG	p.L102L	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	102	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGACGACTATACCTTTCAG	0.328													A|||	1213	0.242212	0.0651	0.3314	5008	,	,		17431	0.2738		0.3638	False		,,,				2504	0.2607				p.L102L		Atlas-SNP	.											.	GRAMD1C	71	.	0			c.A306G						PASS	.	A		470,3936	223.9+/-240.3	23,424,1756	158	154	155		306	-11.6	0.6	3	dbSNP_121	155	3211,5389	485.0+/-371.5	607,1997,1696	no	coding-synonymous	GRAMD1C	NM_017577.4		630,2421,3452	GG,GA,AA		37.3372,10.6673,28.3023		102/663	113594377	3681,9325	2203	4300	6503	SO:0001819	synonymous_variant	54762	exon4			ACGACTATACCTT		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.306A>G	3.37:g.113594377A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_017577	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																			A|0.724;G|0.276	0.276	strong		0.328	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113594377	A	G	113594377	2	3	23	1	0	0	0	0	0	0	0	1	6749	436	16	2		2	GRAMD1C	3	113594377	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	218258	113594377	84428053	986	17442										
KIAA1407	57577	hgsc.bcm.edu	37	chr3	113720517	113720517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcctcccttttctgacgTtcctcctcttgggcctttaa	6	15	3	1	rs6784095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113720517T>A	ENST00000295878.3	-	13	2234	c.2088A>T	c.(2086-2088)gaA>gaT	p.E696D	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	696			E -> D (in dbSNP:rs6784095).							endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTTTCTGACGTTCCTCCTCTT	0.403													T|||	550	0.109824	0.0431	0.1744	5008	,	,		20591	0.1567		0.1362	False		,,,				2504	0.0787				p.E696D		Atlas-SNP	.											.	KIAA1407	80	.	0			c.A2088T						PASS	.	T	ASP/GLU	256,4150	146.9+/-181.5	2,252,1949	248	241	244		2088	-3.1	0.9	3	dbSNP_116	244	1089,7511	227.9+/-263.1	71,947,3282	yes	missense	KIAA1407	NM_020817.1	45	73,1199,5231	AA,AT,TT		12.6628,5.8103,10.3414	probably-damaging	696/937	113720517	1345,11661	2203	4300	6503	SO:0001583	missense	57577	exon13			CTGACGTTCCTCC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2088A>T	3.37:g.113720517T>A	ENSP00000295878:p.Glu696Asp	Somatic	355	0	0		WXS	Illumina HiSeq	Phase_I	310	310	1	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	277	0.12683150183150182	25	0.0508130081300813	44	0.12154696132596685	97	0.16958041958041958	111	0.14643799472295516	T	20.9	4.062455	0.76187	0.058103	0.126628	ENSG00000163617	ENST00000295878	T	0.34472	1.36	5.19	-3.11	0.05299	.	0.230460	0.43919	N	0.000502	T	0.00109	0.0003	M	0.75447	2.3	0.09310	P	0.999999714946	B	0.33448	0.412	B	0.32583	0.148	T	0.04178	-1.0971	9	0.59425	D	0.04	.	7.3801	0.26851	0.0:0.3389:0.1199:0.5412	rs6784095;rs52804206;rs6784095	696	Q8NCU4	K1407_HUMAN	D	696	ENSP00000295878:E696D	ENSP00000295878:E696D	E	-	3	2	KIAA1407	115203207	0.198000	0.23374	0.939000	0.37840	0.989000	0.77384	-1.312000	0.02720	-0.501000	0.06605	-0.248000	0.11899	GAA	T|0.883;A|0.117	0.117	strong		0.403	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		A	113720517	T	A	113720517	3	1	23	1	0	0	0	0	1	0	0	0	8229	1722	60	5	742	5	KIAA1407	3	113720517	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	126140	113720517	84301913	987	17443										
ZNF80	7634	hgsc.bcm.edu	37	chr3	113955753	113955753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggctgtttttgttaaacaCgctcccacattccttgcatt	7	11	0	0	rs146464395	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:113955753C>T	ENST00000482457.2	-	1	672	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	57					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTGTTAAACACGCTCCCACAT	0.478													C|||	53	0.0105831	0.0023	0.0605	5008	,	,		23283	0.0		0.006	False		,,,				2504	0.002				p.V57M	GBM(23;986 1114 21716)	Atlas-SNP	.											.	ZNF80	75	.	0			c.G169A						PASS	.	C	MET/VAL	14,4392	21.2+/-45.6	0,14,2189	127	111	116		169	1.9	0	3	dbSNP_134	116	79,8521	46.3+/-105.2	0,79,4221	yes	missense	ZNF80	NM_007136.3	21	0,93,6410	TT,TC,CC		0.9186,0.3177,0.7151	possibly-damaging	57/274	113955753	93,12913	2203	4300	6503	SO:0001583	missense	7634	exon1			TAAACACGCTCCC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.169G>A	3.37:g.113955753C>T	ENSP00000417192:p.Val57Met	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	111	61	0.54955	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	27	0.012362637362637362	3	0.006097560975609756	19	0.052486187845303865	0	0.0	5	0.006596306068601583	C	10.28	1.307049	0.23821	0.003177	0.009186	ENSG00000174255	ENST00000482457	T	0.29917	1.55	2.77	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	M	0.62723	1.935	0.09310	N	1	D	0.56746	0.977	P	0.48227	0.571	T	0.06661	-1.0814	9	0.87932	D	0	.	4.3307	0.11062	0.0:0.67:0.0:0.33	.	57	P51504	ZNF80_HUMAN	M	57	ENSP00000417192:V57M	ENSP00000309812:V57M	V	-	1	0	ZNF80	115438443	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.983000	0.03759	0.708000	0.31955	0.655000	0.94253	GTG	C|0.991;T|0.009	0.009	strong		0.478	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		T	113955753	C	T	113955753	3	4	23	1	0	0	0	0	1	0	0	0	18165	536	19	1	656	1	ZNF80	3	113955753	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	235236	113955753	84066677	988	17444										
KTELC1	56983	hgsc.bcm.edu	37	chr3	119196166	119196166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctggttgacaggtgtagTggtgttgagcactttatttt	13	4	1	2	rs3732420	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:119196166T>C	ENST00000295588.4	+	4	411	c.327T>C	c.(325-327)agT>agC	p.S109S		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	109					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ACAGGTGTAGTGGTGTTGAGC	0.468													T|||	596	0.11901	0.0136	0.2305	5008	,	,		21369	0.123		0.169	False		,,,				2504	0.1268				p.S109S		Atlas-SNP	.											.	POGLUT1	32	.	0			c.T327C						PASS	.	T		188,4218	118.0+/-155.7	6,176,2021	183	178	180		327	1.6	1	3	dbSNP_107	180	1636,6964	303.2+/-306.3	163,1310,2827	no	coding-synonymous	POGLUT1	NM_152305.2		169,1486,4848	CC,CT,TT		19.0233,4.2669,14.0243		109/393	119196166	1824,11182	2203	4300	6503	SO:0001819	synonymous_variant	56983	exon4			GTGTAGTGGTGTT	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.327T>C	3.37:g.119196166T>C		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	207	95	0.458937	NM_152305	B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	37	CCDS2988.1	279	0.12774725274725274	10	0.02032520325203252	65	0.17955801104972377	79	0.1381118881118881	125	0.16490765171503957	T	10.66	1.412246	0.25465	0.042669	0.190233	ENSG00000163389	ENST00000476573	.	.	.	5.26	1.57	0.23409	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11108	-1.0601	3	.	.	.	-7.4987	6.8594	0.24058	0.0:0.2755:0.0:0.7245	rs3732420;rs17852786;rs3732420	.	.	.	R	96	.	.	W	+	1	0	POGLUT1	120678856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.215000	0.32431	0.479000	0.27511	0.533000	0.62120	TGG	T|0.860;C|0.140	0.140	strong		0.468	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		C	119196166	T	C	119196166	2	2	23	1	0	0	0	0	0	0	0	1	8583	1693	59	2		2	KTELC1	3	119196166	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5240413	119196166	78826264	989	17445										
POPDC2	64091	hgsc.bcm.edu	37	chr3	119379186	119379186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagttggctaggtggtagaCagccccttccacatcctgct	11	13	0	1	rs4688023	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:119379186C>T	ENST00000264231.3	-	1	251	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	POPDC2_ENST00000468801.1_Missense_Mutation_p.V29I|POPDC2_ENST00000493094.1_Missense_Mutation_p.V29I|POPDC2_ENST00000538678.1_Missense_Mutation_p.V29I|POPDC2_ENST00000474523.1_Intron	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	29			V -> I (in dbSNP:rs4688023).		regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGGTGGTAGACAGCCCCTTCC	0.557													C|||	2012	0.401757	0.2935	0.4611	5008	,	,		15446	0.3323		0.4304	False		,,,				2504	0.5481				p.V29I		Atlas-SNP	.											.	POPDC2	36	.	0			c.G85A						PASS	.	C	ILE/VAL	1404,3002	459.6+/-352.3	226,952,1025	89	83	85		85	-5.6	0.5	3	dbSNP_111	85	3806,4794	537.6+/-383.2	840,2126,1334	yes	missense	POPDC2	NM_022135.2	29	1066,3078,2359	TT,TC,CC		44.2558,31.8656,40.0584	benign	29/365	119379186	5210,7796	2203	4300	6503	SO:0001583	missense	64091	exon1			GGTAGACAGCCCC	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.85G>A	3.37:g.119379186C>T	ENSP00000264231:p.Val29Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	110	45	0.409091	NM_022135	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	820	0.37545787545787546	130	0.26422764227642276	170	0.4696132596685083	197	0.34440559440559443	323	0.4261213720316623	C	1.924	-0.447524	0.04572	0.318656	0.442558	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.66	-5.63	0.02474	.	1.223450	0.05589	N	0.574411	T	0.00012	0.0000	N	0.25060	0.705	0.40670	P	0.017796000000000034	B;B	0.18166	0.026;0.009	B;B	0.16289	0.015;0.01	T	0.42050	-0.9474	9	0.06236	T	0.91	.	10.9218	0.47169	0.1494:0.2332:0.5606:0.0568	rs4688023;rs52810037;rs59425816;rs4688023	29;29	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	I	29	ENSP00000264231:V29I;ENSP00000417250:V29I;ENSP00000420715:V29I;ENSP00000438271:V29I	ENSP00000264231:V29I	V	-	1	0	POPDC2	120861876	0.000000	0.05858	0.478000	0.27316	0.573000	0.36030	-0.433000	0.06948	-0.985000	0.03503	-0.309000	0.09137	GTC	C|0.615;T|0.385	0.385	strong		0.557	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		T	119379186	C	T	119379186	3	4	23	1	0	0	0	0	1	0	0	0	12255	478	17	2	1025	2	POPDC2	3	119379186	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	183020	119379186	78643244	990	17446										
C3orf15	89876	hgsc.bcm.edu	37	chr3	119421963	119421963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accatgagccacgcagtaacCatcgaggagccccaggccca	10	16	0	1	rs7612861	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:119421963C>T	ENST00000273390.5	+	1	95	c.18C>T	c.(16-18)acC>acT	p.T6T	MAATS1_ENST00000463700.1_Silent_p.T6T	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	6						mitochondrion (GO:0005739)											ACGCAGTAACCATCGAGGAGC	0.642													C|||	917	0.183107	0.1672	0.2392	5008	,	,		12639	0.1825		0.1461	False		,,,				2504	0.2035				p.T6T		Atlas-SNP	.											C3orf15,NS,carcinoma,0,1	.	.	1	0			c.C18T						PASS	.	C		780,3598		63,654,1472	27	31	30		18	-0.2	0.3	3	dbSNP_116	30	1036,7524		52,932,3296	no	coding-synonymous	C3orf15	NM_033364.3		115,1586,4768	TT,TC,CC		12.1028,17.8164,14.0362		6/768	119421963	1816,11122	2189	4280	6469	SO:0001819	synonymous_variant	89876	exon1			AGTAACCATCGAG	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.18C>T	3.37:g.119421963C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	119	56	0.470588	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	CCDS2994.1																																																																																			C|0.824;T|0.176	0.176	strong		0.642	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		T	119421963	C	T	119421963	2	4	23	1	0	0	0	0	0	0	0	1	2209	581	21	2		2	C3orf15	3	119421963	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42777	119421963	78600467	991	17447										
POLQ	10721	hgsc.bcm.edu	37	chr3	121208176	121208176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taatagtgcttgtctgttcaTgagattgctttcgcaggtac	10	7	2	1	rs3218651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:121208176T>C	ENST00000264233.5	-	16	3730	c.3602A>G	c.(3601-3603)cAt>cGt	p.H1201R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1201					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTCTGTTCATGAGATTGCTT	0.343								DNA polymerases (catalytic subunits)					T|||	1451	0.289736	0.1203	0.2954	5008	,	,		20581	0.5496		0.1511	False		,,,				2504	0.3896				p.H1201R	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.A3602G						PASS	.	T	ARG/HIS	462,3944	218.7+/-236.7	27,408,1768	203	208	206		3602	4.2	0	3	dbSNP_106	206	1261,7339	251.4+/-277.9	106,1049,3145	yes	missense	POLQ	NM_199420.3	29	133,1457,4913	CC,CT,TT		14.6628,10.4857,13.2477	benign	1201/2591	121208176	1723,11283	2203	4300	6503	SO:0001583	missense	10721	exon16			TGTTCATGAGATT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3602A>G	3.37:g.121208176T>C	ENSP00000264233:p.His1201Arg	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	162	97	0.598765	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	620	0.2838827838827839	69	0.1402439024390244	92	0.2541436464088398	331	0.5786713286713286	128	0.16886543535620052	T	3.626	-0.076630	0.07184	0.104857	0.146628	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45276	0.9	5.45	4.24	0.50183	.	0.659014	0.14910	N	0.291263	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.20780	0.048;0.001	B;B	0.15870	0.014;0.0	T	0.42155	-0.9468	9	0.15499	T	0.54	.	10.3646	0.44015	0.156:0.0:0.0:0.844	rs3218651;rs52826086;rs60671312;rs3218651	1201;373	O75417;O75417-2	DPOLQ_HUMAN;.	R	824;1201;1337	ENSP00000264233:H1201R	ENSP00000264233:H1201R	H	-	2	0	POLQ	122690866	0.000000	0.05858	0.016000	0.15963	0.038000	0.13279	-0.078000	0.11375	2.289000	0.77006	0.460000	0.39030	CAT	T|0.779;C|0.221	0.221	strong		0.343	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121208176	T	C	121208176	3	2	23	1	0	0	0	0	1	0	0	0	12208	1464	51	2	4230	2	POLQ	3	121208176	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1786213	121208176	76814254	992	17448										
POLQ	10721	hgsc.bcm.edu	37	chr3	121208894	121208894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaacttgtatgctctctacTtttatttaagtcttgcacta	6	8	2	0	rs3218636	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:121208894T>C	ENST00000264233.5	-	16	3012	c.2884A>G	c.(2884-2886)Agt>Ggt	p.S962G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	962					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCTCTCTACTTTTATTTAAG	0.303								DNA polymerases (catalytic subunits)					T|||	194	0.038738	0.0151	0.2075	5008	,	,		12810	0.003		0.0219	False		,,,				2504	0.0051				p.S962G	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.A2884G						PASS	.	T	GLY/SER	64,4340	55.5+/-91.7	0,64,2138	43	43	43		2884	-2.1	0	3	dbSNP_106	43	240,8350	88.4+/-150.7	5,230,4060	yes	missense	POLQ	NM_199420.3	56	5,294,6198	CC,CT,TT		2.7939,1.4532,2.3395	benign	962/2591	121208894	304,12690	2202	4295	6497	SO:0001583	missense	10721	exon16			CTCTACTTTTATT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2884A>G	3.37:g.121208894T>C	ENSP00000264233:p.Ser962Gly	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	40	0.588235	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	90	0.04120879120879121	11	0.022357723577235773	60	0.16574585635359115	0	0.0	19	0.025065963060686015	T	7.675	0.687849	0.14973	0.014532	0.027939	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	4.77	-2.06	0.07298	.	1.246270	0.05257	N	0.515060	T	0.00073	0.0002	N	0.24115	0.695	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.11324	-1.0592	9	0.22706	T	0.39	.	0.668	0.00854	0.2686:0.1578:0.131:0.4426	rs3218636;rs17690139	962;134	O75417;O75417-2	DPOLQ_HUMAN;.	G	585;962;1098	ENSP00000264233:S962G	ENSP00000264233:S962G	S	-	1	0	POLQ	122691584	0.002000	0.14202	0.001000	0.08648	0.301000	0.27625	0.402000	0.20965	-0.183000	0.10585	0.455000	0.32223	AGT	T|0.970;C|0.030	0.030	strong		0.303	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121208894	T	C	121208894	3	2	23	1	0	0	0	0	1	0	0	0	12208	1609	56	3	4948	3	POLQ	3	121208894	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	718	121208894	76813536	993	17449										
CASR	846	hgsc.bcm.edu	37	chr3	122003757	122003757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgagcctcagaagaacGccatggcccacaggaattct	10	11	2	4	rs1801725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122003757G>T	ENST00000490131.1	+	7	3328	c.2956G>T	c.(2956-2958)Gcc>Tcc	p.A986S	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.A996S|CASR_ENST00000296154.5_Missense_Mutation_p.A986S	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	986			A -> S (associated with high serum level of calcium; is also a potential predisposing factor in disorders of bone and mineral metabolism; dbSNP:rs1801725). {ECO:0000269|PubMed:10023897, ECO:0000269|PubMed:11161843, ECO:0000269|PubMed:14985373, ECO:0000269|PubMed:15531522, ECO:0000269|PubMed:16598859, ECO:0000269|PubMed:17698911, ECO:0000269|PubMed:18756473, ECO:0000269|Ref.5}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCAGAAGAACGCCATGGCCCA	0.582													G|||	472	0.0942492	0.0098	0.1066	5008	,	,		20250	0.0367		0.1451	False		,,,				2504	0.2065				p.A996S		Atlas-SNP	.											.	CASR	190	.	0			c.G2986T	GRCh37	CM012741	CASR	M	rs1801725	PASS	.	G	SER/ALA,SER/ALA	179,4227	115.0+/-153.0	1,177,2025	69	65	67	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2956,2986	4.9	0.6	3	dbSNP_89	67	1272,7328	254.3+/-279.6	109,1054,3137	yes	missense,missense	CASR	NM_000388.3,NM_001178065.1	99,99	110,1231,5162	TT,TG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	14.7907,4.0626,11.1564	benign,benign	986/1079,996/1089	122003757	1451,11555	2203	4300	6503	SO:0001583	missense	846	exon7			AAGAACGCCATGG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2956G>T	3.37:g.122003757G>T	ENSP00000418685:p.Ala986Ser	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	259	113	0.436293	NM_001178065	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	166	0.076007326007326	2	0.0040650406504065045	49	0.13535911602209943	10	0.017482517482517484	105	0.13852242744063326	G	10.51	1.370984	0.24771	0.040626	0.147907	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.91237	-2.81;-2.8;-2.81	5.79	4.92	0.64577	.	0.112422	0.64402	D	0.000010	T	0.01627	0.0052	N	0.11201	0.11	0.22989	P	0.99846151	B;B	0.27951	0.195;0.195	B;B	0.22753	0.041;0.041	T	0.52388	-0.8582	9	0.39692	T	0.17	.	13.8067	0.63236	0.0731:0.0:0.9269:0.0	rs1801725;rs17251741;rs17838787;rs60137063;rs1801725	996;986	E7ENE0;P41180	.;CASR_HUMAN	S	986;996;986	ENSP00000418685:A986S;ENSP00000420194:A996S;ENSP00000296154:A986S	ENSP00000296154:A986S	A	+	1	0	CASR	123486447	0.999000	0.42202	0.567000	0.28434	0.776000	0.43924	3.138000	0.50570	1.465000	0.48006	0.561000	0.74099	GCC	G|0.904;T|0.096	0.096	strong		0.582	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003757	G	T	122003757	3	4	23	1	0	0	0	0	1	0	0	0	2682	1087	38	4	3008	4	CASR	3	122003757	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	794863	122003757	76018673	994	17450										
CASR	846	hgsc.bcm.edu	37	chr3	122003769	122003769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagaacgccatggcccacAggaattctacgcaccagaac	9	13	1	3	rs1042636	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122003769A>G	ENST00000490131.1	+	7	3340	c.2968A>G	c.(2968-2970)Agg>Ggg	p.R990G	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R1000G|CASR_ENST00000296154.5_Missense_Mutation_p.R990G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	990			R -> G (associated with low serum level of calcium; dbSNP:rs1042636). {ECO:0000269|PubMed:12050233, ECO:0000269|PubMed:14985373, ECO:0000269|PubMed:15531522, ECO:0000269|PubMed:15551332, ECO:0000269|PubMed:17698911, ECO:0000269|PubMed:18756473, ECO:0000269|PubMed:7759551, ECO:0000269|Ref.5}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATGGCCCACAGGAATTCTAC	0.577													A|||	1034	0.20647	0.0303	0.1988	5008	,	,		19982	0.5198		0.0736	False		,,,				2504	0.2638				p.R1000G		Atlas-SNP	.											.	CASR	190	.	0			c.A2998G	GRCh37	CM044584	CASR	M	rs1042636	PASS	.	A	GLY/ARG,GLY/ARG	189,4217	118.4+/-156.1	4,181,2018	64	61	62		2968,2998	3.3	1	3	dbSNP_86	62	629,7971	163.6+/-216.1	20,589,3691	yes	missense,missense	CASR	NM_000388.3,NM_001178065.1	125,125	24,770,5709	GG,GA,AA		7.314,4.2896,6.2894	benign,benign	990/1079,1000/1089	122003769	818,12188	2203	4300	6503	SO:0001583	missense	846	exon7			GCCCACAGGAATT	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2968A>G	3.37:g.122003769A>G	ENSP00000418685:p.Arg990Gly	Somatic	274	1	0.00364964		WXS	Illumina HiSeq	Phase_I	239	125	0.523013	NM_001178065	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	453	0.20741758241758243	14	0.028455284552845527	62	0.1712707182320442	315	0.5506993006993007	62	0.08179419525065963	A	10.86	1.469071	0.26335	0.042896	0.07314	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89746	-2.56;-2.52;-2.56	5.79	3.26	0.37387	.	0.065488	0.56097	D	0.000022	T	0.00012	0.0000	L	0.27053	0.805	0.25725	P	0.9853387	B;B	0.31318	0.319;0.155	B;B	0.24155	0.051;0.051	T	0.43940	-0.9360	9	0.87932	D	0	.	11.8665	0.52496	0.7239:0.2761:0.0:0.0	rs1042636;rs3804596;rs52829576;rs59615814;rs1042636	1000;990	E7ENE0;P41180	.;CASR_HUMAN	G	990;1000;990	ENSP00000418685:R990G;ENSP00000420194:R1000G;ENSP00000296154:R990G	ENSP00000296154:R990G	R	+	1	2	CASR	123486459	1.000000	0.71417	0.996000	0.52242	0.582000	0.36321	2.918000	0.48829	1.004000	0.39156	0.459000	0.35465	AGG	A|0.871;G|0.129	0.129	strong		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		G	122003769	A	G	122003769	3	3	23	1	0	0	0	0	1	0	0	0	2682	179	7	3	3020	3	CASR	3	122003769	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12	122003769	76018661	995	17451										
CSTA	1475	hgsc.bcm.edu	37	chr3	122060404	122060404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacaaggatgacgagctgaCgggcttttagcagcatgtac	12	8	0	2	rs34173813	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122060404C>T	ENST00000264474.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	96			T -> M (in dbSNP:rs34173813).		keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GACGAGCTGACGGGCTTTTAG	0.398													C|||	474	0.0946486	0.0189	0.1124	5008	,	,		18573	0.0407		0.1561	False		,,,				2504	0.1769				p.T96M	Pancreas(26;157 1503 12440)	Atlas-SNP	.											.	CSTA	11	.	0			c.C287T	GRCh37	CM076131	CSTA	M	rs34173813	PASS	.	C	MET/THR	212,4194	129.0+/-165.8	1,210,1992	119	117	118		287	-7.3	0	3	dbSNP_126	118	1277,7323	255.2+/-280.2	110,1057,3133	yes	missense	CSTA	NM_005213.3	81	111,1267,5125	TT,TC,CC		14.8488,4.8116,11.4486	probably-damaging	96/99	122060404	1489,11517	2203	4300	6503	SO:0001583	missense	1475	exon3			AGCTGACGGGCTT		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.287C>T	3.37:g.122060404C>T	ENSP00000264474:p.Thr96Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	98	43	0.438776	NM_005213	Q6IB90	Missense_Mutation	SNP	ENST00000264474.3	37	CCDS3011.1	168	0.07692307692307693	3	0.006097560975609756	50	0.13812154696132597	8	0.013986013986013986	107	0.14116094986807387	C	13.20	2.165243	0.38217	0.048116	0.148488	ENSG00000121552	ENST00000264474	T	0.78126	-1.15	5.34	-7.34	0.01427	Proteinase inhibitor I25, cystatin (1);	1.232960	0.05253	N	0.514252	T	0.00468	0.0015	.	.	.	0.80722	P	0.0	P	0.45715	0.865	B	0.36504	0.226	T	0.33137	-0.9880	8	0.72032	D	0.01	0.7508	2.1125	0.03706	0.5059:0.1369:0.1003:0.2569	rs34173813	96	P01040	CYTA_HUMAN	M	96	ENSP00000264474:T96M	ENSP00000264474:T96M	T	+	2	0	CSTA	123543094	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.161000	0.01278	-1.034000	0.03295	0.655000	0.94253	ACG	T|0.104;G|0.000;C|0.895	0.104	strong		0.398	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213		T	122060404	C	T	122060404	3	4	23	1	0	0	0	0	1	0	0	0	3981	536	19	1	297	1	CSTA	3	122060404	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	56635	122060404	75962026	996	17452										
PARP9	83666	hgsc.bcm.edu	37	chr3	122259640	122259640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgaatcccatcagattgaTggcaggagatctagcttcaa	10	8	3	4	rs28365795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122259640T>C	ENST00000360356.2	-	8	1776	c.1549A>G	c.(1549-1551)Atc>Gtc	p.I517V	PARP9_ENST00000471785.1_Missense_Mutation_p.I482V|PARP9_ENST00000492382.1_Missense_Mutation_p.I62V|PARP9_ENST00000477522.2_Missense_Mutation_p.I482V|PARP9_ENST00000462315.1_Missense_Mutation_p.I482V	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	517			I -> V (in dbSNP:rs28365795). {ECO:0000269|PubMed:15489334}.		cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATCAGATTGATGGCAGGAGAT	0.448													T|||	640	0.127796	0.0938	0.111	5008	,	,		18669	0.1101		0.1541	False		,,,				2504	0.1769				p.I517V		Atlas-SNP	.											.	PARP9	72	.	0			c.A1549G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	515,3891	235.2+/-247.8	29,457,1717	126	126	126		1549,1444,1444,1444,1444,1549	2.7	0.1	3	dbSNP_125	126	1351,7249	264.2+/-285.4	120,1111,3069	yes	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	29,29,29,29,29,29	149,1568,4786	CC,CT,TT		15.7093,11.6886,14.3472	benign,benign,benign,benign,benign,benign	517/855,482/820,482/820,482/820,482/711,517/855	122259640	1866,11140	2203	4300	6503	SO:0001583	missense	83666	exon8			GATTGATGGCAGG	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1549A>G	3.37:g.122259640T>C	ENSP00000353512:p.Ile517Val	Somatic	278	1	0.00359712		WXS	Illumina HiSeq	Phase_I	222	95	0.427928	NM_031458	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	254	0.1163003663003663	51	0.10365853658536585	49	0.13535911602209943	51	0.08916083916083917	103	0.1358839050131926	T	5.844	0.339849	0.11069	0.116886	0.157093	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17054	3.33;2.79;3.18;3.18;2.3	5.07	2.68	0.31781	.	0.119302	0.38164	N	0.001786	T	0.00073	0.0002	M	0.65975	2.015	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.27264	0.156;0.007;0.173;0.059	B;B;B;B	0.24848	0.043;0.008;0.056;0.043	T	0.11203	-1.0597	9	0.49607	T	0.09	.	4.3067	0.10951	0.1743:0.0929:0.0:0.7328	rs28365795;rs28365795	482;517;62;482	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	V	517;62;482;482;440;482	ENSP00000353512:I517V;ENSP00000417664:I62V;ENSP00000419506:I482V;ENSP00000419001:I482V;ENSP00000418894:I482V	ENSP00000353512:I517V	I	-	1	0	PARP9	123742330	0.598000	0.26882	0.051000	0.19133	0.335000	0.28730	0.977000	0.29475	0.403000	0.25479	0.528000	0.53228	ATC	T|0.867;C|0.133	0.133	strong		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		C	122259640	T	C	122259640	3	2	23	1	0	0	0	0	1	0	0	0	11466	1464	51	2	1084	2	PARP9	3	122259640	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	199236	122259640	75762790	997	17453										
PARP15	165631	hgsc.bcm.edu	37	chr3	122296638	122296638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagatcgggaggcggggagcGtgctgccggccgggaaccgt	21	10	0	1	rs1875272	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122296638G>A	ENST00000464300.2	+	1	190	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	PARP15_ENST00000483793.1_Missense_Mutation_p.V42M	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	42				V -> M (in Ref. 4; AAY64451). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGCGGGGAGCGTGCTGCCGGC	0.697													G|||	1182	0.236022	0.2564	0.33	5008	,	,		14132	0.247		0.2197	False		,,,				2504	0.1472				p.V42M		Atlas-SNP	.											PARP15_ENST00000464300,NS,carcinoma,0,1	PARP15	115	1	0			c.G124A						scavenged	.						27	30	29					3																	122296638		692	1591	2283	SO:0001583	missense	165631	exon1			GGGAGCGTGCTGC	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.124G>A	3.37:g.122296638G>A	ENSP00000417214:p.Val42Met	Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	106	60	0.566038	NM_001113523	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	554	0.25366300366300365	125	0.2540650406504065	105	0.2900552486187845	155	0.270979020979021	169	0.22295514511873352	G	10.71	1.427298	0.25726	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.15139	2.62;2.45	2.55	0.535	0.17133	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	5.999999999950489E-6	P	0.39551	0.678	B	0.20577	0.03	T	0.47799	-0.9089	7	0.52906	T	0.07	.	4.5242	0.11973	0.1537:0.229:0.6174:0.0	rs1875272;rs1875272	42	C9J7L3	.	M	42	ENSP00000417214:V42M;ENSP00000417785:V42M	ENSP00000417214:V42M	V	+	1	0	PARP15	123779328	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.711000	0.05019	0.116000	0.18110	0.561000	0.74099	GTG	G|0.744;A|0.256	0.256	strong		0.697	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		A	122296638	G	A	122296638	3	1	23	1	0	0	0	0	1	0	0	0	11459	1145	40	1	126	1	PARP15	3	122296638	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36998	122296638	75725792	998	17454										
PARP14	54625	hgsc.bcm.edu	37	chr3	122419292	122419292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaaaattcctccccaaacActgtaatcatcaatgagtta	3	11	2	1	rs7632072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122419292A>G	ENST00000474629.2	+	6	2157	c.1891A>G	c.(1891-1893)Act>Gct	p.T631A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTCCCCAAACACTGTAATCAT	0.348													A|||	278	0.0555112	0.1218	0.0576	5008	,	,		21423	0.001		0.0487	False		,,,				2504	0.0276				p.T631A		Atlas-SNP	.											.	PARP14	242	.	0			c.A1891G						PASS	.	A	ALA/THR	342,3342		18,306,1518	31	30	31		1891	2.1	0	3	dbSNP_116	31	361,7841		5,351,3745	yes	missense	PARP14	NM_017554.2	58	23,657,5263	GG,GA,AA		4.4014,9.2834,5.9145	probably-damaging	631/1802	122419292	703,11183	1842	4101	5943	SO:0001583	missense	54625	exon6			CCAAACACTGTAA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1891A>G	3.37:g.122419292A>G	ENSP00000418194:p.Thr631Ala	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	111	0.050824175824175824	49	0.09959349593495935	22	0.06077348066298342	1	0.0017482517482517483	39	0.051451187335092345	A	13.04	2.119612	0.37436	0.092834	0.044014	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10099	2.91	6.06	2.12	0.27331	.	0.174182	0.39759	N	0.001269	T	0.00271	0.0008	M	0.66939	2.045	0.09310	N	1	P;B	0.38827	0.649;0.376	B;B	0.33690	0.168;0.055	T	0.30268	-0.9984	10	0.36615	T	0.2	.	3.82	0.08832	0.663:0.1354:0.0717:0.1299	rs7632072;rs52827643;rs7632072	631;631	Q460N5-4;Q460N5	.;PAR14_HUMAN	A	631;550	ENSP00000418194:T631A	ENSP00000381228:T550A	T	+	1	0	PARP14	123901982	0.014000	0.17966	0.001000	0.08648	0.003000	0.03518	1.250000	0.32850	0.497000	0.27926	0.533000	0.62120	ACT	A|0.950;G|0.050	0.050	strong		0.348	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		G	122419292	A	G	122419292	3	3	23	1	0	0	0	0	1	0	0	0	11458	159	6	2	1913	2	PARP14	3	122419292	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	122654	122419292	75603138	999	17455										
HSPBAP1	79663	hgsc.bcm.edu	37	chr3	122459290	122459291	+	In_Frame_Ins	INS	-	-	AGA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgtagaaatgaatgtttgINSaggagtcgtagtagtatttg					rs71270423|rs370465518|rs34964328|rs16338	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:122459290_122459291insAGA	ENST00000306103.2	-	8	1511_1512	c.1368_1369insTCT	c.(1366-1371)cctcaa>cctTCTcaa	p.456_457PQ>PSQ	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	456				P -> PS (in Ref. 3; AAH17763). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ATGAATGTTTGAGGAGTCGTAG	0.386														759	0.151558	0.2277	0.1671	5008	,	,		16998	0.126		0.1382	False		,,,				2504	0.0777				p.Q457delinsSQ		Pindel	.											HSPBAP1,NS,carcinoma,+1,1	HSPBAP1	32	1	0			c.1369_1370insTCT						PASS	.			830,3436		82,666,1385						1.2	0		dbSNP_54	189	1244,7010		94,1056,2977	no	coding	HSPBAP1	NM_024610.5		176,1722,4362	A1A1,A1R,RR		15.0715,19.4562,16.5655				2074,10446				SO:0001652	inframe_insertion	79663	exon8			.	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1368_1369insTCT	3.37:g.122459290_122459291insAGA	ENSP00000302562:p.Pro456_Gln457insSer	Somatic	394	.	.		WXS	Illumina HiSeq	Phase_I	384	93	0.242	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	In_Frame_Ins	INS	ENST00000306103.2	37	CCDS3017.1																																																																																			-|0.847;AGA|0.153	0.153	strong		0.386	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		AGA	122459291	-	AGA	122459290	7	5	23	1	0	1	1	0	0	0	0	0	7425	1299	45	0	101	0	HSPBAP1	3	122459290	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	39998	122459290	75563140	1000	17456										
MYLK	4638	hgsc.bcm.edu	37	chr3	123419422	123419422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccttctcaggcacgggggTcttggaagtccccttcttgg	12	13	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:123419422T>C	ENST00000475616.1	-	15	2892	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	MYLK_ENST00000346322.5_Missense_Mutation_p.T896A|MYLK_ENST00000360772.3_Missense_Mutation_p.T965A|MYLK_ENST00000359169.1_Missense_Mutation_p.T965A|MYLK_ENST00000360304.3_Missense_Mutation_p.T965A|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	965	5 X 28 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCACGGGGGTCTTGGAAGTC	0.572																																					p.T965A		Atlas-SNP	.											.	MYLK	224	.	0			c.A2893G						PASS	.						49	48	48					3																	123419422		2203	4300	6503	SO:0001583	missense	4638	exon18			CGGGGGTCTTGGA	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2893A>G	3.37:g.123419422T>C	ENSP00000418335:p.Thr965Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	6.416	0.444842	0.12164	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.64260	-0.09;-0.04;-0.09;-0.04;-0.04	5.2	2.46	0.29980	.	.	.	.	.	T	0.43344	0.1243	L	0.28556	0.865	0.80722	D	1	B;B;B;B;B;B	0.15141	0.0;0.001;0.005;0.012;0.003;0.0	B;B;B;B;B;B	0.14023	0.001;0.005;0.01;0.006;0.004;0.001	T	0.14364	-1.0475	9	0.15499	T	0.54	.	7.056	0.25099	0.0:0.1566:0.1276:0.7157	.	965;43;896;965;896;965	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	A	965;965;965;896;965	ENSP00000354004:T965A;ENSP00000353452:T965A;ENSP00000352088:T965A;ENSP00000320622:T896A;ENSP00000418335:T965A	ENSP00000320622:T896A	T	-	1	0	MYLK	124902112	0.997000	0.39634	1.000000	0.80357	0.951000	0.60555	0.367000	0.20382	0.835000	0.34877	-0.434000	0.05882	ACC	.	.	none		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		C	123419422	T	C	123419422	3	2	23	1	0	0	0	0	1	0	0	0	10056	1667	58	2	2919	2	MYLK	3	123419422	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	960132	123419422	74603008	1001	17457										
MYLK	4638	hgsc.bcm.edu	37	chr3	123512627	123512627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatggagtcaactcttgagGgatccacactgagggaggtt	14	8	2	2	rs28497577	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:123512627G>T	ENST00000475616.1	-	1	61	c.62C>A	c.(61-63)cCc>cAc	p.P21H	MYLK_ENST00000360772.3_Missense_Mutation_p.P21H|MYLK_ENST00000360304.3_Missense_Mutation_p.P21H|MYLK_ENST00000346322.5_Missense_Mutation_p.P21H|MYLK_ENST00000359169.1_Missense_Mutation_p.P21H			Q15746	MYLK_HUMAN	myosin light chain kinase	21			P -> H (in dbSNP:rs28497577).		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AACTCTTGAGGGATCCACACT	0.542													G|||	988	0.197284	0.4183	0.1052	5008	,	,		19509	0.0556		0.0855	False		,,,				2504	0.2249				p.P21H		Atlas-SNP	.											.	MYLK	224	.	0			c.C62A						PASS	.	G	HIS/PRO,HIS/PRO,HIS/PRO,HIS/PRO	1598,2808	496.2+/-363.5	283,1032,888	67	69	68		62,62,62,62	0.2	0.5	3	dbSNP_125	68	807,7793	188.3+/-235.3	32,743,3525	yes	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	77,77,77,77	315,1775,4413	TT,TG,GG		9.3837,36.2687,18.4915	benign,benign,benign,benign	21/1915,21/1846,21/1864,21/1795	123512627	2405,10601	2203	4300	6503	SO:0001583	missense	4638	exon4			CTTGAGGGATCCA	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.62C>A	3.37:g.123512627G>T	ENSP00000418335:p.Pro21His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	98	39	0.397959	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	341	0.15613553113553114	207	0.42073170731707316	44	0.12154696132596685	26	0.045454545454545456	64	0.08443271767810026	G	4.655	0.121816	0.08931	0.362687	0.093837	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.68331	-0.32;-0.27;-0.32;-0.3;-0.27	5.91	0.146	0.14833	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B;B;B;B;B;B	0.12630	0.006;0.006;0.001;0.0;0.002;0.0;0.003	B;B;B;B;B;B;B	0.15870	0.014;0.014;0.003;0.002;0.007;0.002;0.006	T	0.39121	-0.9629	8	0.26408	T	0.33	.	20.3305	0.98715	0.0:0.0:0.8627:0.1373	rs28497577;rs59516889;rs28497577	21;21;21;21;21;21;21	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	H	21	ENSP00000354004:P21H;ENSP00000353452:P21H;ENSP00000352088:P21H;ENSP00000320622:P21H;ENSP00000418335:P21H	ENSP00000320622:P21H	P	-	2	0	MYLK	124995317	0.886000	0.30341	0.528000	0.27938	0.337000	0.28794	-0.203000	0.09438	0.013000	0.14918	0.655000	0.94253	CCC	G|0.819;T|0.181	0.181	strong		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123512627	G	T	123512627	3	4	23	1	0	0	0	0	1	0	0	0	10056	1232	43	4	5806	4	MYLK	3	123512627	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	93205	123512627	74509803	1002	17458										
KALRN	8997	hgsc.bcm.edu	37	chr3	123946895	123946895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctatcctaaaggaaaaGgtggccttcgtgtctggtga	11	9	1	1	rs2293641|rs36107295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:123946895G>A	ENST00000240874.3	+	2	283	c.126G>A	c.(124-126)aaG>aaA	p.K42K	KALRN_ENST00000460856.1_Silent_p.K42K|KALRN_ENST00000360013.3_Silent_p.K42K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	42	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TAAAGGAAAAGGTGGCCTTCG	0.453													A|||	700	0.139776	0.2194	0.1182	5008	,	,		20205	0.1637		0.0457	False		,,,				2504	0.1196				p.K42K		Atlas-SNP	.											.	KALRN	556	.	0			c.G126A						PASS	.	A	,	845,3561	745.6+/-411.7	86,673,1444	262	251	255		126,126	5.1	1	3	dbSNP_100	255	371,8229	802.7+/-407.3	8,355,3937	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_003947.4	,	94,1028,5381	AA,AG,GG		4.314,19.1784,9.3495	,	42/2987,42/1664	123946895	1216,11790	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon2			GGAAAAGGTGGCC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.126G>A	3.37:g.123946895G>A		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	250	118	0.472	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	302	0.1382783882783883	126	0.25609756097560976	45	0.12430939226519337	93	0.16258741258741258	38	0.05013192612137203	A	9.441	1.088054	0.20390	0.191784	0.04314	ENSG00000160145	ENST00000448253;ENST00000354186	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.06607	-1.0817	3	.	.	.	.	11.0603	0.47944	0.9273:0.0:0.0727:0.0	rs2293641;rs2293641	.	.	.	K	70;20	.	.	R	+	2	0	KALRN	125429585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.718000	0.47236	0.969000	0.38237	-0.269000	0.10298	AGG	G|0.891;A|0.109	0.109	strong		0.453	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	123946895	G	A	123946895	2	1	23	1	0	0	0	0	0	0	0	1	7975	991	35	2		2	KALRN	3	123946895	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	434268	123946895	74075535	1003	17459										
KALRN	8997	hgsc.bcm.edu	37	chr3	124351424	124351424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgagtcctgtgcgtcggctTaacagcgggaaggcagatgg	16	9	0	1	rs1660038	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124351424T>C	ENST00000291478.5	+	2	406	c.243T>C	c.(241-243)ctT>ctC	p.L81L	KALRN_ENST00000428018.2_Silent_p.L81L|KALRN_ENST00000393496.1_Silent_p.L151L|KALRN_ENST00000360013.3_Silent_p.L1778L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1778	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCGTCGGCTTAACAGCGGGA	0.557													C|||	3544	0.707668	0.8048	0.6873	5008	,	,		19108	0.9216		0.5984	False		,,,				2504	0.4826				p.L1778L		Atlas-SNP	.											.	KALRN	556	.	0			c.T5334C						PASS	.	C	,	3337,1069	387.9+/-326.7	1267,803,133	70	74	73		5334,243	1.9	1	3	dbSNP_89	73	4925,3675	527.3+/-381.1	1423,2079,798	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_007064.3	,	2690,2882,931	CC,CT,TT		42.7326,24.2624,36.4755	,	1778/2987,81/1290	124351424	8262,4744	2203	4300	6503	SO:0001819	synonymous_variant	8997	exon35			TCGGCTTAACAGC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.243T>C	3.37:g.124351424T>C		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	119	118	0.991597	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	1579	0.722985347985348	384	0.7804878048780488	231	0.638121546961326	518	0.9055944055944056	446	0.5883905013192612	C	9.679	1.148701	0.21288	0.757376	0.572674	ENSG00000160145	ENST00000354186	T	0.70516	-0.49	5.04	1.88	0.25563	.	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999986052	.	.	.	.	.	.	T	0.18398	-1.0338	6	0.87932	D	0	.	6.2538	0.20861	0.0:0.3055:0.4074:0.2871	rs1660038;rs56621483;rs59741739;rs1660038	.	.	.	S	1747	ENSP00000346122:L1747S	ENSP00000346122:L1747S	L	+	2	0	KALRN	125834114	0.998000	0.40836	0.996000	0.52242	0.929000	0.56500	0.388000	0.20735	-0.045000	0.13468	-0.302000	0.09304	TTA	T|0.326;C|0.674	0.674	strong		0.557	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		C	124351424	T	C	124351424	2	2	23	1	0	0	0	0	0	0	0	1	7975	1741	61	2		2	KALRN	3	124351424	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	404529	124351424	73671006	1004	17460										
HEG1	57493	hgsc.bcm.edu	37	chr3	124731485	124731485	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgaggctgaagaggacaCtgttgttggtgactgtgtgc	15	7	0	4	rs10804567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124731485C>G	ENST00000311127.4	-	6	3005	c.2938G>C	c.(2938-2940)Gtg>Ctg	p.V980L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	980			V -> L (in dbSNP:rs10804567). {ECO:0000269|PubMed:15489334}.		cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAAGAGGACACTGTTGTTGGT	0.522													G|||	3737	0.746206	0.6596	0.7363	5008	,	,		20780	0.9286		0.6262	False		,,,				2504	0.8057				p.V980L		Atlas-SNP	.											.	HEG1	109	.	0			c.G2938C						PASS	.	G	LEU/VAL	2824,1414		952,920,247	72	83	79		2938	-9	0	3	dbSNP_120	79	5148,3376		1556,2036,670	yes	missense	HEG1	NM_020733.1	32	2508,2956,917	GG,GC,CC		39.6058,33.3648,37.5333	benign	980/1382	124731485	7972,4790	2119	4262	6381	SO:0001583	missense	57493	exon6			AGGACACTGTTGT	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2938G>C	3.37:g.124731485C>G	ENSP00000311502:p.Val980Leu	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	230	104	0.452174	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	1585	0.7257326007326007	322	0.6544715447154471	246	0.6795580110497238	524	0.916083916083916	493	0.6503957783641161	G	0.188	-1.056212	0.01965	0.666352	0.603942	ENSG00000173706	ENST00000311127	D	0.87334	-2.24	4.51	-9.01	0.00744	.	1.618810	0.04775	N	0.428701	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40232	-0.9574	9	0.05525	T	0.97	.	4.6055	0.12376	0.1528:0.3258:0.4141:0.1073	rs10804567;rs52819187;rs56613990;rs10804567	980;980	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	980	ENSP00000311502:V980L	ENSP00000311502:V980L	V	-	1	0	HEG1	126214175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.876000	0.01633	-2.011000	0.00952	-1.077000	0.02231	GTG	C|0.293;G|0.707	0.707	strong		0.522	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124731485	C	G	124731485	3	3	23	1	0	0	0	0	1	0	0	0	7044	565	20	4	1255	4	HEG1	3	124731485	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	380061	124731485	73290945	1005	17461										
HEG1	57493	hgsc.bcm.edu	37	chr3	124732618	124732618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctctcagtctgagcatgaAaaaaggaggaatactctgaa	9	7	4	3	rs6790837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124732618A>G	ENST00000311127.4	-	6	1872	c.1805T>C	c.(1804-1806)tTt>tCt	p.F602S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	602	Ser-rich.		F -> S (in dbSNP:rs6790837).		cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGAGCATGAAAAAAGGAGGA	0.423													A|||	2209	0.441094	0.2269	0.4409	5008	,	,		21906	0.4673		0.5358	False		,,,				2504	0.6063				p.F602S		Atlas-SNP	.											.	HEG1	109	.	0			c.T1805C						PASS	.	A	SER/PHE	1020,2976		122,776,1100	95	94	95		1805	3.3	0.9	3	dbSNP_116	95	4211,4129		1039,2133,998	yes	missense	HEG1	NM_020733.1	155	1161,2909,2098	GG,GA,AA		49.5084,25.5255,42.4043	benign	602/1382	124732618	5231,7105	1998	4170	6168	SO:0001583	missense	57493	exon6			GCATGAAAAAAGG	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1805T>C	3.37:g.124732618A>G	ENSP00000311502:p.Phe602Ser	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	191	95	0.497382	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	968	0.4432234432234432	112	0.22764227642276422	160	0.4419889502762431	276	0.4825174825174825	420	0.554089709762533	A	0.549	-0.850305	0.02651	0.255255	0.504916	ENSG00000173706	ENST00000311127	D	0.86694	-2.16	5.13	3.35	0.38373	.	.	.	.	.	T	0.00012	0.0000	N	0.00347	-1.61	0.49389	P	2.1700000000002273E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38001	-0.9681	8	0.05833	T	0.94	.	9.2744	0.37690	0.1656:0.0:0.8344:0.0	rs6790837;rs52806541;rs60644473;rs6790837	602;602	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	S	602	ENSP00000311502:F602S	ENSP00000311502:F602S	F	-	2	0	HEG1	126215308	0.998000	0.40836	0.929000	0.37066	0.473000	0.32948	2.578000	0.46051	0.750000	0.32877	-0.132000	0.14878	TTT	A|0.568;G|0.432	0.432	strong		0.423	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124732618	A	G	124732618	3	3	23	1	0	0	0	0	1	0	0	0	7044	14	1	2	2388	2	HEG1	3	124732618	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1133	124732618	73289812	1006	17462										
HEG1	57493	hgsc.bcm.edu	37	chr3	124739892	124739892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaccatcagtgaacacggtGgcaacatgcattgtctttgt	9	11	2	1	rs6438874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124739892G>A	ENST00000311127.4	-	4	1063	c.996C>T	c.(994-996)gcC>gcT	p.A332A	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	332					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGAACACGGTGGCAACATGCA	0.498													G|||	2552	0.509585	0.4561	0.4769	5008	,	,		20452	0.4772		0.5437	False		,,,				2504	0.6033				p.A332A		Atlas-SNP	.											.	HEG1	109	.	0			c.C996T						PASS	.	G		1752,2302		373,1006,648	67	67	67		996	-4.2	0	3	dbSNP_116	67	4254,4152		1058,2138,1007	no	coding-synonymous	HEG1	NM_020733.1		1431,3144,1655	AA,AG,GG		49.3933,43.2166,48.2022		332/1382	124739892	6006,6454	2027	4203	6230	SO:0001819	synonymous_variant	57493	exon4			CACGGTGGCAACA	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.996C>T	3.37:g.124739892G>A		Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	223	106	0.475336	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																			G|0.510;A|0.490	0.490	strong		0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		A	124739892	G	A	124739892	2	1	23	1	0	0	0	0	0	0	0	1	7044	1335	47	2		2	HEG1	3	124739892	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7274	124739892	73282538	1007	17463										
HEG1	57493	hgsc.bcm.edu	37	chr3	124746049	124746049	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggtatgtggcactcacAtgaggaaaggtctaagagag	15	6	2	2	rs2981546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124746049A>G	ENST00000311127.4	-	3	980	c.913T>C	c.(913-915)Tct>Cct	p.S305P		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	305			S -> P (in dbSNP:rs2981546).		cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGCACTCACATGAGGAAAGG	0.463													A|||	2448	0.488818	0.3744	0.4755	5008	,	,		21467	0.4782		0.5457	False		,,,				2504	0.6053				p.S305P		Atlas-SNP	.											.	HEG1	109	.	0			c.T913C						PASS	.	A	PRO/SER	1429,2527		246,937,795	40	42	41		913	-9.6	0	3	dbSNP_101	41	4192,4114		1040,2112,1001	yes	missense-near-splice	HEG1	NM_020733.1	74	1286,3049,1796	GG,GA,AA		49.5305,36.1223,45.8408	possibly-damaging	305/1382	124746049	5621,6641	1978	4153	6131	SO:0001630	splice_region_variant	57493	exon3			ACTCACATGAGGA	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.913+1T>C	3.37:g.124746049A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	39	0.4875	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	1037	0.4748168498168498	176	0.35772357723577236	169	0.46685082872928174	278	0.486013986013986	414	0.5461741424802111	A	10.69	1.421656	0.25639	0.361223	0.504695	ENSG00000173706	ENST00000311127	T	0.46819	0.86	4.78	-9.56	0.00566	.	.	.	.	.	T	0.00012	0.0000	N	0.21448	0.665	0.58432	P	1.0000000000287557E-6	B;B	0.14805	0.011;0.002	B;B	0.12156	0.007;0.003	T	0.36480	-0.9746	7	.	.	.	.	4.5132	0.11921	0.1547:0.446:0.2977:0.1016	rs2981546;rs17238378;rs52812106;rs61451362;rs2981546	305;305	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	P	305	ENSP00000311502:S305P	.	S	-	1	0	HEG1	126228739	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.905000	0.01591	-1.952000	0.01027	0.528000	0.53228	TCT	A|0.534;G|0.466	0.466	strong		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	Missense_Mutation	G	124746049	A	G	124746049	5	3	23	1	0	0	0	0	0	0	1	0	7044	231	8	2	3292	2	HEG1	3	124746049	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6157	124746049	73276381	1008	17464										
HEG1	57493	hgsc.bcm.edu	37	chr3	124746182	124746182	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaaagcaggaagaaaggaCgggctccaagccgaagtggt	14	9	0	1	rs2333041	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124746182C>A	ENST00000311127.4	-	3	847	c.780G>T	c.(778-780)ccG>ccT	p.P260P		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	260					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAAGAAAGGACGGGCTCCAAG	0.557													c|||	2572	0.513578	0.469	0.4755	5008	,	,		18354	0.4782		0.5457	False		,,,				2504	0.6043				p.P260P		Atlas-SNP	.											HEG1,NS,carcinoma,-1,1	HEG1	109	1	0			c.G780T						scavenged	.	T		1785,2205		387,1011,597	61	64	63		780	0.7	0	3	dbSNP_100	63	4203,4105		1043,2117,994	no	coding-synonymous	HEG1	NM_020733.1		1430,3128,1591	AA,AC,CC		49.4102,44.7368,48.6908		260/1382	124746182	5988,6310	1995	4154	6149	SO:0001819	synonymous_variant	57493	exon3			AAAGGACGGGCTC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.780G>T	3.37:g.124746182C>A		Somatic	201	2	0.00995025		WXS	Illumina HiSeq	Phase_I	210	102	0.485714	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																			A|0.503;C|0.497;T|0.000	0.503	strong		0.557	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		A	124746182	C	A	124746182	2	1	23	1	0	0	0	0	0	0	0	1	7044	523	19	4		4	HEG1	3	124746182	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133	124746182	73276248	1009	17465										
HEG1	57493	hgsc.bcm.edu	37	chr3	124746347	124746347	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatggcaggtgaagactttcTgaggctgaaaacagacaaaa	12	6	1	5	rs4404487	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124746347T>C	ENST00000311127.4	-	3	682	c.615A>G	c.(613-615)tcA>tcG	p.S205S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	205					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAAGACTTTCTGAGGCTGAAA	0.423													C|||	3851	0.76897	0.7882	0.7248	5008	,	,		21310	0.8889		0.6223	False		,,,				2504	0.8016				p.S205S		Atlas-SNP	.											.	HEG1	109	.	0			c.A615G						PASS	.	C		2804,890		1074,656,117	49	44	46		615	1.2	0	3	dbSNP_111	46	4885,3305		1461,1963,671	no	coding-synonymous	HEG1	NM_020733.1		2535,2619,788	CC,CT,TT		40.3541,24.0931,35.2996		205/1382	124746347	7689,4195	1847	4095	5942	SO:0001819	synonymous_variant	57493	exon3			ACTTTCTGAGGCT	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.615A>G	3.37:g.124746347T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	136	61	0.448529	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																			T|0.270;C|0.730	0.730	strong		0.423	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		C	124746347	T	C	124746347	2	2	23	1	0	0	0	0	0	0	0	1	7044	1567	55	3		3	HEG1	3	124746347	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	165	124746347	73276083	1010	17466										
HEG1	57493	hgsc.bcm.edu	37	chr3	124748226	124748226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagaggtctgaaccatcacGccctctttggaggacactgt	10	13	3	2	rs2860440	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:124748226G>A	ENST00000311127.4	-	2	490	c.423C>T	c.(421-423)ggC>ggT	p.G141G		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	141					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAACCATCACGCCCTCTTTGG	0.498													G|||	2448	0.488818	0.3775	0.4697	5008	,	,		20274	0.4792		0.5457	False		,,,				2504	0.6043				p.G141G		Atlas-SNP	.											HEG1,colon,carcinoma,0,1	HEG1	109	1	0			c.C423T						PASS	.	G		1410,2446		251,908,769	102	95	97		423	-10.8	0	3	dbSNP_101	97	4179,4093		1041,2097,998	no	coding-synonymous	HEG1	NM_020733.1		1292,3005,1767	AA,AG,GG		49.4802,36.5664,46.0834		141/1382	124748226	5589,6539	1928	4136	6064	SO:0001819	synonymous_variant	57493	exon2			CATCACGCCCTCT	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.423C>T	3.37:g.124748226G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																			G|0.528;A|0.472	0.472	strong		0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		A	124748226	G	A	124748226	2	1	23	1	0	0	0	0	0	0	0	1	7044	1074	38	1		1	HEG1	3	124748226	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1879	124748226	73274204	1011	17467										
SLC41A3	54946	hgsc.bcm.edu	37	chr3	125726048	125726048	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccgaaccatcacttctgcGaggtacagcaggattgtcac	10	12	3	0	rs2279819	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:125726048G>C	ENST00000315891.6	-	11	1513	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	SLC41A3_ENST00000360370.4_Silent_p.L425L|SLC41A3_ENST00000508835.1_Silent_p.L308L|SLC41A3_ENST00000383598.2_Silent_p.L399L|SLC41A3_ENST00000346785.5_Silent_p.L389L	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	425						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCACTTCTGCGAGGTACAGCA	0.552													C|||	3334	0.665735	0.9395	0.5461	5008	,	,		21833	0.503		0.6203	False		,,,				2504	0.5951				p.L425L		Atlas-SNP	.											.	SLC41A3	80	.	0			c.C1275G						PASS	.	C	,,,,	3927,479	223.6+/-240.1	1749,429,25	63	58	60		1275,1167,1197,924,1275	4.6	1	3	dbSNP_100	60	5407,3193	483.1+/-371.0	1711,1985,604	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	,,,,	3460,2414,629	CC,CG,GG		37.1279,10.8715,28.2331	,,,,	425/508,389/472,399/462,308/371,425/488	125726048	9334,3672	2203	4300	6503	SO:0001819	synonymous_variant	54946	exon11			TTCTGCGAGGTAC		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1275C>G	3.37:g.125726048G>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	112	112	1	NM_017836	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	ENST00000315891.6	37	CCDS33843.1																																																																																			G|0.309;C|0.691	0.691	strong		0.552	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		C	125726048	G	C	125726048	2	2	23	1	0	0	0	0	0	0	0	1	14631	1045	37	4		4	SLC41A3	3	125726048	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	977822	125726048	72296382	1012	17468										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125826003	125826003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccatcagcaaaccgagagaTgatcatgacaggcccgaagg	11	12	2	3	rs4646750	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:125826003T>C	ENST00000393434.2	-	21	2783	c.2434A>G	c.(2434-2436)Atc>Gtc	p.I812V	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.I822V|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.I812V|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.I711V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	812	Aldehyde dehydrogenase.		I -> V (in dbSNP:rs4646750).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AACCGAGAGATGATCATGACA	0.517													T|||	324	0.0646965	0.112	0.0692	5008	,	,		20531	0.0308		0.0646	False		,,,				2504	0.0327				p.I822V		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.A2464G						PASS	.	T	VAL/ILE	510,3896	235.5+/-248.0	23,464,1716	173	150	157		2434	2.8	1	3	dbSNP_111	157	652,7948	165.7+/-217.8	25,602,3673	yes	missense	ALDH1L1	NM_012190.2	29	48,1066,5389	CC,CT,TT		7.5814,11.5751,8.9343	benign	812/903	125826003	1162,11844	2203	4300	6503	SO:0001583	missense	10840	exon21			GAGAGATGATCAT	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2434A>G	3.37:g.125826003T>C	ENSP00000377083:p.Ile812Val	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_001270364	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	150	0.06868131868131869	55	0.11178861788617886	26	0.0718232044198895	18	0.03146853146853147	51	0.06728232189973615	T	8.039	0.763418	0.15914	0.115751	0.075814	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	3.98	2.83	0.33086	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.143965	0.44902	N	0.000405	T	0.00073	0.0002	N	0.11064	0.09	0.09310	P	0.9999999999999973	B;B;B	0.28026	0.151;0.198;0.039	B;B;B	0.31016	0.123;0.103;0.069	T	0.41574	-0.9501	9	0.40728	T	0.16	.	7.2766	0.26288	0.0:0.109:0.0:0.891	rs4646750;rs56475654;rs59802481;rs4646750	711;347;812	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	V	822;812;711;812	ENSP00000273450:I822V;ENSP00000420293:I812V;ENSP00000395881:I711V;ENSP00000377083:I812V	ENSP00000273450:I822V	I	-	1	0	ALDH1L1	127308693	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.912000	0.39946	0.606000	0.29965	0.260000	0.18958	ATC	T|0.919;C|0.081	0.081	strong		0.517	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		C	125826003	T	C	125826003	3	2	23	1	0	0	0	0	1	0	0	0	494	1464	51	2	286	2	ALDH1L1	3	125826003	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	99955	125826003	72196427	1013	17469										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125856695	125856695	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctcctcatcgtcccctcgCagcttcctcactaacagctg	5	20	2	0	rs2305230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:125856695C>A	ENST00000393434.2	-	10	1534	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	ALDH1L1_ENST00000273450.3_Silent_p.L405L|ALDH1L1_ENST00000472186.1_Silent_p.L395L|ALDH1L1_ENST00000393431.2_Silent_p.L395L|ALDH1L1_ENST00000452905.2_Silent_p.L294L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	395					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGTCCCCTCGCAGCTTCCTCA	0.562													C|||	1226	0.244808	0.4418	0.1945	5008	,	,		20912	0.2321		0.166	False		,,,				2504	0.1084				p.L405L		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.G1215T						PASS	.	C		1705,2701	514.7+/-368.7	331,1043,829	138	101	113		1185	-2.7	0.2	3	dbSNP_100	113	1424,7176	273.3+/-290.6	126,1172,3002	no	coding-synonymous	ALDH1L1	NM_012190.2		457,2215,3831	AA,AC,CC		16.5581,38.6972,24.0581		395/903	125856695	3129,9877	2203	4300	6503	SO:0001819	synonymous_variant	10840	exon10			CCCTCGCAGCTTC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1185G>T	3.37:g.125856695C>A		Somatic	305	1	0.00327869		WXS	Illumina HiSeq	Phase_I	254	252	0.992126	NM_001270364	B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	CCDS3034.1																																																																																			C|0.767;A|0.233	0.233	strong		0.562	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		A	125856695	C	A	125856695	2	1	23	1	0	0	0	0	0	0	0	1	494	697	25	4		4	ALDH1L1	3	125856695	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30692	125856695	72165735	1014	17470										
ALDH1L1	10840	hgsc.bcm.edu	37	chr3	125865766	125865766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggaggatccgctgccaaaCactctgcaaagcaagacctg	12	12	1	1	rs2886059	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:125865766C>A	ENST00000393434.2	-	9	1337	c.988G>T	c.(988-990)Gtt>Ttt	p.V330F	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V340F|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V330F|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.V330F|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V229F|ALDH1L1_ENST00000413612.1_5'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	330	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.		V -> F (in dbSNP:rs2886059).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGCTGCCAAACACTCTGCAAA	0.577													C|||	1188	0.23722	0.4206	0.1859	5008	,	,		19510	0.2302		0.165	False		,,,				2504	0.1074				p.V340F		Atlas-SNP	.											.	ALDH1L1	138	.	0			c.G1018T						PASS	.	C	PHE/VAL	1587,2819	485.7+/-360.4	283,1021,899	38	38	38		988	0.6	0	3	dbSNP_101	38	1412,7188	265.3+/-286.1	124,1164,3012	yes	missense	ALDH1L1	NM_012190.2	50	407,2185,3911	AA,AC,CC		16.4186,36.0191,23.0586	benign	330/903	125865766	2999,10007	2203	4300	6503	SO:0001583	missense	10840	exon9			GCCAAACACTCTG	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.988G>T	3.37:g.125865766C>A	ENSP00000377083:p.Val330Phe	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	51	49	0.960784	NM_001270364	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	521	0.23855311355311357	190	0.3861788617886179	74	0.20441988950276244	128	0.22377622377622378	129	0.17018469656992086	C	11.17	1.560641	0.27827	0.360191	0.164186	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.69	0.561	0.17285	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.582604	0.16840	N	0.197367	T	0.00012	0.0000	L	0.50333	1.59	0.45979	P	0.0012020000000000364	P;P;B	0.48407	0.91;0.752;0.248	P;P;B	0.54590	0.756;0.477;0.353	T	0.36335	-0.9752	9	0.87932	D	0	.	4.42	0.11476	0.1543:0.5856:0.0:0.26	rs2886059;rs52826531;rs2886059	229;382;330	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	F	340;330;229;330;330	ENSP00000273450:V340F;ENSP00000420293:V330F;ENSP00000395881:V229F;ENSP00000377083:V330F;ENSP00000377081:V330F	ENSP00000273450:V340F	V	-	1	0	ALDH1L1	127348456	0.000000	0.05858	0.041000	0.18516	0.041000	0.13682	0.133000	0.15912	-0.088000	0.12506	-0.469000	0.05056	GTT	C|0.771;N|0.000	.	strong		0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		A	125865766	C	A	125865766	3	1	23	1	0	0	0	0	1	0	0	0	494	478	17	4	1780	4	ALDH1L1	3	125865766	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9071	125865766	72156664	1015	17471										
CCDC37	348807	hgsc.bcm.edu	37	chr3	126137558	126137558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatccctggagaaggacgcCgccttgttcgacgagttcgt	12	11	0	1	rs4679242|rs386665601	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126137558C>T	ENST00000352312.1	+	7	690	c.591C>T	c.(589-591)gcC>gcT	p.A197A	CCDC37_ENST00000505024.1_Silent_p.A198A|CCDC37_ENST00000393425.1_Silent_p.A198A	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	197										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGGACGCCGCCTTGTTCG	0.652													C|||	1248	0.249201	0.3623	0.2666	5008	,	,		14683	0.1339		0.1869	False		,,,				2504	0.2669				p.A197A		Atlas-SNP	.											.	CCDC37	69	.	0			c.C591T						PASS	.	C		1565,2827		278,1009,909	47	51	50		591	-5.7	0	3	dbSNP_111	50	1826,6770		204,1418,2676	no	coding-synonymous	CCDC37	NM_182628.2		482,2427,3585	TT,TC,CC		21.2424,35.633,26.1087		197/612	126137558	3391,9597	2196	4298	6494	SO:0001819	synonymous_variant	348807	exon7			GGACGCCGCCTTG	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.591C>T	3.37:g.126137558C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																			C|0.760;T|0.240	0.240	strong		0.652	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		T	126137558	C	T	126137558	2	4	23	1	0	0	0	0	0	0	0	1	2809	639	23	1		1	CCDC37	3	126137558	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	271792	126137558	71884872	1016	17472										
ZXDC	79364	hgsc.bcm.edu	37	chr3	126191011	126191011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attacctgtatggctccgcaGgtgaattttcagccgacagg	11	10	1	1	rs62264721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126191011G>A	ENST00000389709.3	-	2	1098	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZXDC_ENST00000336332.5_Silent_p.L349L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	349					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGCTCCGCAGGTGAATTTTC	0.468													G|||	105	0.0209665	0.0061	0.0058	5008	,	,		18844	0.0665		0.0119	False		,,,				2504	0.0143				p.L349L		Atlas-SNP	.											.	ZXDC	87	.	0			c.C1045T						PASS	.	G	,	35,4239		0,35,2102	58	63	62		1045,1045	2.4	1	3	dbSNP_129	62	88,8460		0,88,4186	yes	coding-synonymous,coding-synonymous	ZXDC	NM_001040653.2,NM_025112.4	,	0,123,6288	AA,AG,GG		1.0295,0.8189,0.9593	,	349/711,349/859	126191011	123,12699	2137	4274	6411	SO:0001819	synonymous_variant	79364	exon2			TCCGCAGGTGAAT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1045C>T	3.37:g.126191011G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_025112	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	CCDS43145.1																																																																																			G|0.982;A|0.018	0.018	strong		0.468	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		A	126191011	G	A	126191011	2	1	23	1	0	0	0	0	0	0	0	1	18249	991	35	2		2	ZXDC	3	126191011	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	53453	126191011	71831419	1017	17473										
CHST13	166012	hgsc.bcm.edu	37	chr3	126260995	126260995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgccttccagaggcgctaCggtgcacgcatcgttcagcg	13	15	1	1	rs7614066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126260995C>T	ENST00000319340.2	+	3	650	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	200					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		AGAGGCGCTACGGTGCACGCA	0.721													C|||	273	0.0545128	0.1248	0.0288	5008	,	,		7896	0.002		0.0258	False		,,,				2504	0.0613				p.Y200Y		Atlas-SNP	.											.	CHST13	21	.	0			c.C600T						PASS	.	C		331,3793		10,311,1741	6	7	6		600	-5.3	0.2	3	dbSNP_116	6	189,7819		2,185,3817	no	coding-synonymous	CHST13	NM_152889.2		12,496,5558	TT,TC,CC		2.3601,8.0262,4.2862		200/342	126260995	520,11612	2062	4004	6066	SO:0001819	synonymous_variant	166012	exon3			GCGCTACGGTGCA	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.600C>T	3.37:g.126260995C>T		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_152889	Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	CCDS3039.1																																																																																			C|0.956;T|0.044	0.044	strong		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		T	126260995	C	T	126260995	2	4	23	1	0	0	0	0	0	0	0	1	3401	547	19	1		1	CHST13	3	126260995	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	69984	126260995	71761435	1018	17474										
CHCHD6	84303	hgsc.bcm.edu	37	chr3	126451937	126451937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaggtatgaacaggagcatGctgctatccaggataagctc	11	9	0	1	rs2272487	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126451937G>T	ENST00000290913.3	+	4	376	c.283G>T	c.(283-285)Gct>Tct	p.A95S	CHCHD6_ENST00000508789.1_Missense_Mutation_p.A95S	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	95			A -> S (in dbSNP:rs2272487).		cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						ACAGGAGCATGCTGCTATCCA	0.547													G|||	1426	0.284744	0.2511	0.2565	5008	,	,		22414	0.3522		0.165	False		,,,				2504	0.4039				p.A95S		Atlas-SNP	.											.	CHCHD6	18	.	0			c.G283T						PASS	.	G	SER/ALA	1087,3319	393.1+/-328.7	123,841,1239	81	70	74		283	2.6	0.7	3	dbSNP_100	74	1409,7191	272.0+/-289.9	127,1155,3018	yes	missense	CHCHD6	NM_032343.1	99	250,1996,4257	TT,TG,GG		16.3837,24.6709,19.1911	benign	95/236	126451937	2496,10510	2203	4300	6503	SO:0001583	missense	84303	exon4			GAGCATGCTGCTA	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28184	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 23", "coiled-coil-helix cristae morphology 1"	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.283G>T	3.37:g.126451937G>T	ENSP00000290913:p.Ala95Ser	Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	229	124	0.541485	NM_032343	D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP	ENST00000290913.3	37	CCDS3041.1	507|507	0.23214285714285715|0.23214285714285715	128|128	0.2601626016260163|0.2601626016260163	96|96	0.26519337016574585|0.26519337016574585	168|168	0.2937062937062937|0.2937062937062937	115|115	0.1517150395778364|0.1517150395778364	G|G	7.333|7.333	0.619243|0.619243	0.14129|0.14129	0.246709|0.246709	0.163837|0.163837	ENSG00000159685|ENSG00000159685	ENST00000290913;ENST00000508789|ENST00000513253	T;T|.	0.50813|.	0.73;0.73|.	4.48|4.48	2.64|2.64	0.31445|0.31445	.|.	0.252628|.	0.38217|.	N|.	0.001762|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.57536|0.57536	1.79|1.79	0.34928|0.34928	P|P	0.250926|0.250926	D;P|.	0.63046|.	0.992;0.684|.	P;P|.	0.59012|.	0.85;0.553|.	T|T	0.13629|0.13629	-1.0502|-1.0502	9|4	0.38643|.	T|.	0.18|.	-4.0401|-4.0401	7.1596|7.1596	0.25657|0.25657	0.0:0.1885:0.6163:0.1952|0.0:0.1885:0.6163:0.1952	rs2272487;rs11544130;rs52805448;rs59133559;rs2272487|rs2272487;rs11544130;rs52805448;rs59133559;rs2272487	95;95|.	D6R9U0;Q9BRQ6|.	.;CHCH6_HUMAN|.	S|I	95|28	ENSP00000290913:A95S;ENSP00000422912:A95S|.	ENSP00000290913:A95S|.	A|M	+|+	1|3	0|0	CHCHD6|CHCHD6	127934627|127934627	0.983000|0.983000	0.35010|0.35010	0.656000|0.656000	0.29637|0.29637	0.053000|0.053000	0.15095|0.15095	1.839000|1.839000	0.39220|0.39220	0.496000|0.496000	0.27904|0.27904	0.591000|0.591000	0.81541|0.81541	GCT|ATG	G|0.788;T|0.212	0.212	strong		0.547	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		T	126451937	G	T	126451937	3	4	23	1	0	0	0	0	1	0	0	0	3320	1319	46	4	297	4	CHCHD6	3	126451937	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	190942	126451937	71570493	1019	17475										
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126726705	126726705	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaataccgccacgtgtgcacAcacaacgtggctgactgcgc	10	14	0	1	rs9876615	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126726705A>G	ENST00000393409.2	+	8	2061	c.2061A>G	c.(2059-2061)acA>acG	p.T687T	PLXNA1_ENST00000251772.4_Silent_p.T664T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	687					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACGTGTGCACACACAACGTGG	0.622													A|||	769	0.153554	0.1036	0.0605	5008	,	,		21337	0.2044		0.1312	False		,,,				2504	0.2577				p.T687T		Atlas-SNP	.											PLXNA1,NS,carcinoma,0,1	PLXNA1	185	1	0			c.A2061G						PASS	.	A		438,3968	208.8+/-229.8	21,396,1786	82	73	76		2061	-7.3	0.1	3	dbSNP_119	76	960,7640	208.2+/-249.7	62,836,3402	no	coding-synonymous	PLXNA1	NM_032242.3		83,1232,5188	GG,GA,AA		11.1628,9.941,10.7489		687/1897	126726705	1398,11608	2203	4300	6503	SO:0001819	synonymous_variant	5361	exon8			GTGCACACACAAC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2061A>G	3.37:g.126726705A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_032242		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			A|0.893;G|0.107	0.107	strong		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		G	126726705	A	G	126726705	2	3	23	1	0	0	0	0	0	0	0	1	12119	146	6	2		2	PLXNA1	3	126726705	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	274768	126726705	71295725	1020	17476										
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126735453	126735453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaaccgcgcccagctcacCaaccctgaggtgaagtacaa	8	15	2	2	rs9858521	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126735453C>T	ENST00000393409.2	+	15	3108	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	PLXNA1_ENST00000251772.4_Silent_p.T1013T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1036	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCAGCTCACCAACCCTGAGG	0.627													C|||	748	0.149361	0.0946	0.0548	5008	,	,		18241	0.2083		0.1203	False		,,,				2504	0.2597				p.T1036T		Atlas-SNP	.											.	PLXNA1	185	.	0			c.C3108T						PASS	.	C		403,4003	198.7+/-222.5	15,373,1815	117	118	118		3108	3.8	1	3	dbSNP_119	118	870,7730	197.3+/-242.0	51,768,3481	no	coding-synonymous	PLXNA1	NM_032242.3		66,1141,5296	TT,TC,CC		10.1163,9.1466,9.7878		1036/1897	126735453	1273,11733	2203	4300	6503	SO:0001819	synonymous_variant	5361	exon15			GCTCACCAACCCT	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3108C>T	3.37:g.126735453C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	166	86	0.518072	NM_032242		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.897;T|0.103	0.103	strong		0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126735453	C	T	126735453	2	4	23	1	0	0	0	0	0	0	0	1	12119	581	21	2		2	PLXNA1	3	126735453	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8748	126735453	71286977	1021	17477										
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126741041	126741041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcgcagcttctccatgcgCgaccgcgggaatgtggcctc	13	15	1	0	rs150052583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:126741041C>T	ENST00000393409.2	+	21	4152	c.4152C>T	c.(4150-4152)cgC>cgT	p.R1384R	PLXNA1_ENST00000251772.4_Silent_p.R1361R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1384					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCTCCATGCGCGACCGCGGGA	0.612													C|||	28	0.00559105	0.0038	0.0101	5008	,	,		22692	0.001		0.0129	False		,,,				2504	0.002				p.R1384R		Atlas-SNP	.											PLXNA1,colon,carcinoma,+2,1	PLXNA1	185	1	0			c.C4152T						PASS	.	C		11,4393	17.9+/-39.9	0,11,2191	62	54	56		4152	-5.4	0.9	3	dbSNP_134	56	93,8505	53.1+/-113.8	0,93,4206	no	coding-synonymous	PLXNA1	NM_032242.3		0,104,6397	TT,TC,CC		1.0816,0.2498,0.7999		1384/1897	126741041	104,12898	2202	4299	6501	SO:0001819	synonymous_variant	5361	exon21			CATGCGCGACCGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4152C>T	3.37:g.126741041C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	150	67	0.446667	NM_032242		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.992;T|0.008	0.008	strong		0.612	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126741041	C	T	126741041	2	4	23	1	0	0	0	0	0	0	0	1	12119	755	27	1		1	PLXNA1	3	126741041	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5588	126741041	71281389	1022	17478										
DNAJB8	165721	hgsc.bcm.edu	37	chr3	128181537	128181537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccattgatcatctcggtggaCgacatcaccgacttgaaccc	8	14	3	2	rs2953129	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:128181537C>T	ENST00000469083.1	-	2	3109	c.552G>A	c.(550-552)tcG>tcA	p.S184S	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.S184S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	184	Ser-rich.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCTCGGTGGACGACATCACCG	0.627													C|||	995	0.198682	0.0136	0.2291	5008	,	,		16918	0.4008		0.2008	False		,,,				2504	0.2168				p.S184S		Atlas-SNP	.											.	DNAJB8	34	.	0			c.G552A						PASS	.	C		220,4186	131.8+/-168.3	7,206,1990	115	100	105		552	-1.9	0.9	3	dbSNP_101	105	1612,6988	300.5+/-305.0	169,1274,2857	no	coding-synonymous	DNAJB8	NM_153330.2		176,1480,4847	TT,TC,CC		18.7442,4.9932,14.0858		184/233	128181537	1832,11174	2203	4300	6503	SO:0001819	synonymous_variant	165721	exon3			GGTGGACGACATC		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.552G>A	3.37:g.128181537C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	147	64	0.435374	NM_153330	B3KWV7	Silent	SNP	ENST00000469083.1	37	CCDS3048.1																																																																																			C|0.820;T|0.180	0.180	strong		0.627	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		T	128181537	C	T	128181537	2	4	23	1	0	0	0	0	0	0	0	1	4626	523	19	1		1	DNAJB8	3	128181537	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1440496	128181537	69840893	1023	17479										
DNAJB8	165721	hgsc.bcm.edu	37	chr3	128182074	128182074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgcacgcccagcacttcGtagtagttagccatggccag	11	14	0	0	rs2981026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:128182074G>A	ENST00000469083.1	-	2	2572	c.15C>T	c.(13-15)taC>taT	p.Y5Y	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.Y5Y			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	5	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CCAGCACTTCGTAGTAGTTAG	0.632													G|||	1540	0.307508	0.1316	0.3573	5008	,	,		16196	0.4891		0.2753	False		,,,				2504	0.3558				p.Y5Y		Atlas-SNP	.											.	DNAJB8	34	.	0			c.C15T						PASS	.	G		658,3748	268.6+/-268.5	48,562,1593	55	57	56		15	0.9	1	3	dbSNP_101	56	2275,6325	374.6+/-337.4	318,1639,2343	no	coding-synonymous	DNAJB8	NM_153330.2		366,2201,3936	AA,AG,GG		26.4535,14.9342,22.5511		5/233	128182074	2933,10073	2203	4300	6503	SO:0001819	synonymous_variant	165721	exon3			CACTTCGTAGTAG		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.15C>T	3.37:g.128182074G>A		Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	203	94	0.463054	NM_153330	B3KWV7	Silent	SNP	ENST00000469083.1	37	CCDS3048.1																																																																																			G|0.724;A|0.276	0.276	strong		0.632	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		A	128182074	G	A	128182074	2	1	23	1	0	0	0	0	0	0	0	1	4626	1140	40	1		1	DNAJB8	3	128182074	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	537	128182074	69840356	1024	17480										
GATA2	2624	hgsc.bcm.edu	37	chr3	128204951	128204951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggtgggagccagagtgggCtgctgtaggggtgagggagg	23	4	0	2	rs2335052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:128204951C>T	ENST00000341105.2	-	3	821	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	GATA2_ENST00000430265.2_Missense_Mutation_p.A164T|GATA2_ENST00000487848.1_Missense_Mutation_p.A164T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	164			A -> T (in dbSNP:rs2335052). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCAGAGTGGGCTGCTGTAGGG	0.672			Mis		AML(CML blast transformation)								C|||	1166	0.232827	0.2156	0.2406	5008	,	,		13545	0.378		0.1829	False		,,,				2504	0.1524				p.A164T		Atlas-SNP	.		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	GATA2,colon,carcinoma,0,2	GATA2	122	2	0			c.G490A	GRCh37	CM066570	GATA2	M	rs2335052	PASS	.	C	THR/ALA,THR/ALA,THR/ALA	736,3670	293.0+/-282.3	66,604,1533	41	39	40		490,490,490	1.8	0.9	3	dbSNP_100	40	1395,7205	258.7+/-282.2	122,1151,3027	yes	missense,missense,missense	GATA2	NM_001145661.1,NM_001145662.1,NM_032638.4	58,58,58	188,1755,4560	TT,TC,CC		16.2209,16.7045,16.3847	benign,benign,benign	164/481,164/467,164/481	128204951	2131,10875	2203	4300	6503	SO:0001583	missense	2624	exon3			AGTGGGCTGCTGT	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.490G>A	3.37:g.128204951C>T	ENSP00000345681:p.Ala164Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	150	62	0.413333	NM_001145662	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	529	0.24221611721611722	101	0.20528455284552846	81	0.22375690607734808	212	0.3706293706293706	135	0.17810026385224276	C	11.98	1.801096	0.31869	0.167045	0.162209	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.32;-4.33;-4.32	3.9	1.83	0.25207	.	0.333921	0.33875	N	0.004464	T	0.00012	0.0000	N	0.04724	-0.175	0.34725	P	0.270903	B;B	0.15473	0.013;0.001	B;B	0.19391	0.025;0.002	T	0.10086	-1.0645	9	0.21540	T	0.41	-13.4507	9.5554	0.39334	0.0:0.5805:0.4195:0.0	rs2335052;rs4343643;rs17465403;rs60980469;rs2335052	164;164	P23769-2;P23769	.;GATA2_HUMAN	T	164	ENSP00000345681:A164T;ENSP00000400259:A164T;ENSP00000417074:A164T	ENSP00000345681:A164T	A	-	1	0	GATA2	129687641	0.824000	0.29247	0.899000	0.35326	0.973000	0.67179	0.622000	0.24433	0.911000	0.36747	0.484000	0.47621	GCC	C|0.800;T|0.200	0.200	strong		0.672	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		T	128204951	C	T	128204951	3	4	23	1	0	0	0	0	1	0	0	0	6254	797	28	2	968	2	GATA2	3	128204951	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22877	128204951	69817479	1025	17481										
PLXND1	23129	hgsc.bcm.edu	37	chr3	129324703	129324703	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcttgaggatgttgtcgtcGgaggggttgaggtcgaaggt	18	4	1	2	rs139286065	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:129324703G>C	ENST00000324093.4	-	1	958	c.780C>G	c.(778-780)tcC>tcG	p.S260S	PLXND1_ENST00000393239.1_Silent_p.S260S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTTGTCGTCGGAGGGGTTGA	0.662													g|||	3	0.000599042	0.0	0.0014	5008	,	,		12752	0.0		0.002	False		,,,				2504	0.0				p.S260S	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.C780G						PASS	.			0,4404		0,0,2202	40	36	37		780	2.7	1	3	dbSNP_134	37	21,8579	14.6+/-50.1	0,21,4279	no	coding-synonymous	PLXND1	NM_015103.2		0,21,6481	CC,CG,GG		0.2442,0.0,0.1615		260/1926	129324703	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	23129	exon1			GTCGTCGGAGGGG	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.780C>G	3.37:g.129324703G>C		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	173	74	0.427746	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			G|0.998;C|0.002	0.002	strong		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129324703	G	C	129324703	2	2	23	1	0	0	0	0	0	0	0	1	12127	1103	39	4		4	PLXND1	3	129324703	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1119752	129324703	68697727	1026	17482										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130129322	130129322	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attatatttttagggtagaaGtggacagaaaggggtgcaag	14	2	0	2	rs35886424	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:130129322G>C	ENST00000432398.2	+	20	5110	c.4616G>C	c.(4615-4617)aGt>aCt	p.S1539T	COL6A5_ENST00000265379.6_Missense_Mutation_p.S1539T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1539	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGGTAGAAGTGGACAGAAA	0.388													C|||	549	0.109625	0.0953	0.1037	5008	,	,		18486	0.1081		0.1123	False		,,,				2504	0.1319				p.S1539T		Atlas-SNP	.											.	COL6A5	205	.	0			c.G4616C						PASS	.	C	THR/SER	143,1241		8,127,557	114	90	97		4616	4.8	0.6	3	dbSNP_126	97	431,2751		27,377,1187	yes	missense	COL6A5	NM_153264.5	58	35,504,1744	CC,CG,GG		13.5449,10.3324,12.5712	benign	1539/2527	130129322	574,3992	692	1591	2283	SO:0001583	missense	256076	exon20			GTAGAAGTGGACA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4616G>C	3.37:g.130129322G>C	ENSP00000390895:p.Ser1539Thr	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	93	40	0.430108	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		241	0.11034798534798534	40	0.08130081300813008	44	0.12154696132596685	69	0.12062937062937062	88	0.11609498680738786	C	4.952	0.176814	0.09443	0.103324	0.135449	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.93604	-3.2;-3.25	5.73	4.84	0.62591	.	.	.	.	.	T	0.02230	0.0069	N	0.01091	-1.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.54173	-0.8333	8	0.23302	T	0.38	.	12.913	0.58190	0.0:0.5405:0.4595:0.0	rs35886424	1539	A8TX70-2	.	T	1539	ENSP00000390895:S1539T;ENSP00000265379:S1539T	ENSP00000265379:S1539T	S	+	2	0	COL6A5	131612012	0.049000	0.20398	0.606000	0.28943	0.230000	0.25150	1.005000	0.29834	1.445000	0.47624	-0.127000	0.14921	AGT	G|0.888;C|0.112	0.112	strong		0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130129322	G	C	130129322	3	2	23	1	0	0	0	0	1	0	0	0	3702	1029	36	4	4690	4	COL6A5	3	130129322	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	804619	130129322	67893108	1027	17483										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130150310	130150310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcttttcttttttctagaAaaatgtccagcatatccaac	4	10	2	1	rs61744488	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:130150310A>C	ENST00000432398.2	+	33	5744	c.5250A>C	c.(5248-5250)gaA>gaC	p.E1750D	COL6A5_ENST00000265379.6_Missense_Mutation_p.E1750D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1750	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTCTAGAAAAATGTCCAG	0.383													A|||	165	0.0329473	0.0015	0.0202	5008	,	,		20457	0.0228		0.0398	False		,,,				2504	0.0879				p.E1750D		Atlas-SNP	.											.	COL6A5	205	.	0			c.A5250C						PASS	.	A	ASP/GLU	20,1364		0,20,672	48	41	43		5250	-4.1	0.1	3	dbSNP_129	43	142,3040		3,136,1452	yes	missense-near-splice	COL6A5	NM_153264.5	45	3,156,2124	CC,CA,AA		4.4626,1.4451,3.548	benign	1750/2527	130150310	162,4404	692	1591	2283	SO:0001583	missense	256076	exon33			TCTAGAAAAATGT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5250A>C	3.37:g.130150310A>C	ENSP00000390895:p.Glu1750Asp	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	75	43	0.573333	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		63|63	0.028846153846153848|0.028846153846153848	4|4	0.008130081300813009|0.008130081300813009	7|7	0.019337016574585635|0.019337016574585635	19|19	0.033216783216783216|0.033216783216783216	33|33	0.04353562005277045|0.04353562005277045	A|A	1.385|1.385	-0.582422|-0.582422	0.03827|0.03827	0.014451|0.014451	0.044626|0.044626	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379|ENST00000512836	D;D|.	0.89050|.	-2.37;-2.46|.	5.74|5.74	-4.14|-4.14	0.03892|0.03892	.|.	.|.	.|.	.|.	.|.	T|T	0.03739|0.03739	0.0106|0.0106	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.23797|0.23797	-1.0178|-1.0178	9|5	0.12430|.	T|.	0.62|.	.|.	3.4186|3.4186	0.07385|0.07385	0.4523:0.321:0.1311:0.0957|0.4523:0.321:0.1311:0.0957	rs61744488|rs61744488	1750|.	A8TX70-2|.	.|.	D|Q	1750|2	ENSP00000390895:E1750D;ENSP00000265379:E1750D|.	ENSP00000265379:E1750D|.	E|K	+|+	3|1	2|0	COL6A5|COL6A5	131633000|131633000	0.243000|0.243000	0.23878|0.23878	0.080000|0.080000	0.20451|0.20451	0.014000|0.014000	0.08584|0.08584	0.258000|0.258000	0.18387|0.18387	-0.430000|-0.430000	0.07318|0.07318	-1.272000|-1.272000	0.01410|0.01410	GAA|AAA	A|0.971;C|0.029	0.029	strong		0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130150310	A	C	130150310	3	2	23	1	0	0	0	0	1	0	0	0	3702	28	1	5	5376	5	COL6A5	3	130150310	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	20988	130150310	67872120	1028	17484										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130189719	130189719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccactctctctccaggtgcCatcaacaaatatcccaccga	4	18	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:130189719C>T	ENST00000432398.2	+	39	7976	c.7482C>T	c.(7480-7482)gcC>gcT	p.A2494A	COL6A5_ENST00000265379.6_Silent_p.A2494A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2494	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCCAGGTGCCATCAACAAAT	0.443																																					p.A2494A		Atlas-SNP	.											FLJ35880,rectum,carcinoma,+1,4	COL6A5	205	4	0			c.C7482T						scavenged	.						75	73	74					3																	130189719		1887	4121	6008	SO:0001819	synonymous_variant	256076	exon39			AGGTGCCATCAAC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7482C>T	3.37:g.130189719C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	93	2	0.0215054	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	10.17	1.276981	0.23307	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.35	1.9	0.25705	.	.	.	.	.	T	0.44414	0.1292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	2.8854	0.05660	0.2656:0.4446:0.0:0.2898	.	.	.	.	Y	746	.	.	H	+	1	0	COL6A5	131672409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.435000	0.21510	0.498000	0.27948	-0.140000	0.14226	CAT	.	.	none		0.443	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130189719	C	T	130189719	2	4	23	1	0	0	0	0	0	0	0	1	3702	581	21	2		2	COL6A5	3	130189719	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39409	130189719	67832711	1029	17485										
COL6A6	131873	hgsc.bcm.edu	37	chr3	130282383	130282383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacctgaaggccatggccaCgtctcagtttcatttcaacc	7	13	3	1	rs114511272	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:130282383C>A	ENST00000358511.6	+	2	567	c.536C>A	c.(535-537)aCg>aAg	p.T179K	COL6A6_ENST00000453409.2_Missense_Mutation_p.T179K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	179	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T179M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCATGGCCACGTCTCAGTTT	0.468													C|||	43	0.00858626	0.0008	0.0072	5008	,	,		19242	0.006		0.0189	False		,,,				2504	0.0123				p.T179K		Atlas-SNP	.											COL6A6_ENST00000358511,colon,carcinoma,-1,3	COL6A6	497	3	1	Substitution - Missense(1)	breast(1)	c.C536A						PASS	.	C	LYS/THR	13,3867		0,13,1927	72	72	72		536	5.3	0.9	3	dbSNP_132	72	129,8135		1,127,4004	yes	missense	COL6A6	NM_001102608.1	78	1,140,5931	AA,AC,CC		1.561,0.3351,1.1693	probably-damaging	179/2264	130282383	142,12002	1940	4132	6072	SO:0001583	missense	131873	exon2			TGGCCACGTCTCA	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.536C>A	3.37:g.130282383C>A	ENSP00000351310:p.Thr179Lys	Somatic	232	1	0.00431034		WXS	Illumina HiSeq	Phase_I	207	91	0.439614	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	18	0.008241758241758242	0	0.0	2	0.0055248618784530384	2	0.0034965034965034965	14	0.018469656992084433	C	23.3	4.401156	0.83120	0.003351	0.01561	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000008	T	0.79516	0.4459	M	0.71206	2.165	0.42732	D	0.993717	D	0.89917	1.0	D	0.97110	1.0	T	0.82671	-0.0342	10	0.39692	T	0.17	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	179	A6NMZ7	CO6A6_HUMAN	K	179	ENSP00000351310:T179K;ENSP00000399236:T179K	ENSP00000351310:T179K	T	+	2	0	COL6A6	131765073	0.889000	0.30405	0.859000	0.33776	0.964000	0.63967	1.641000	0.37197	2.652000	0.90054	0.561000	0.74099	ACG	C|0.992;A|0.008	0.008	strong		0.468	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130282383	C	A	130282383	3	1	23	1	0	0	0	0	1	0	0	0	3703	536	19	4	542	4	COL6A6	3	130282383	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92664	130282383	67740047	1030	17486										
PIK3R4	30849	hgsc.bcm.edu	37	chr3	130449222	130449222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggggtcattttccatattAagattttttaactgtactaa	6	5	1	1	rs2170990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:130449222A>G	ENST00000356763.3	-	5	2072	c.1515T>C	c.(1513-1515)ctT>ctC	p.L505L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	505					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTCCATATTAAGATTTTTTA	0.308													A|||	1154	0.230431	0.1218	0.3127	5008	,	,		15408	0.2054		0.2058	False		,,,				2504	0.3701				p.L505L		Atlas-SNP	.											.	PIK3R4	145	.	0			c.T1515C						PASS	.	A		607,3799	265.0+/-266.4	50,507,1646	72	77	75		1515	-0.8	1	3	dbSNP_96	75	1647,6947	302.8+/-306.1	168,1311,2818	no	coding-synonymous	PIK3R4	NM_014602.2		218,1818,4464	GG,GA,AA		19.1645,13.7767,17.3385		505/1359	130449222	2254,10746	2203	4297	6500	SO:0001819	synonymous_variant	30849	exon5			CATATTAAGATTT	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1515T>C	3.37:g.130449222A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																			A|0.812;G|0.188	0.188	strong		0.308	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		G	130449222	A	G	130449222	2	3	23	1	0	0	0	0	0	0	0	1	11921	349	13	2		2	PIK3R4	3	130449222	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	166839	130449222	67573208	1031	17487										
ACPP	55	hgsc.bcm.edu	37	chr3	132075554	132075554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactttgtggagatgtactaTcggaatgagacgcagcacga	12	7	0	2	rs3181784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:132075554T>C	ENST00000336375.5	+	10	1083	c.993T>C	c.(991-993)taT>taC	p.Y331Y	ACPP_ENST00000475741.1_Silent_p.Y298Y|ACPP_ENST00000351273.7_Silent_p.Y331Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	331					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.Y331Y(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AGATGTACTATCGGAATGAGA	0.537													T|||	1520	0.303514	0.3245	0.3761	5008	,	,		16201	0.0804		0.3767	False		,,,				2504	0.3783				p.Y331Y		Atlas-SNP	.											ACPP_ENST00000351273,NS,carcinoma,0,4	ACPP	118	4	2	Substitution - coding silent(2)	prostate(2)	c.T993C						scavenged	.	T	,	1430,2976	465.5+/-354.2	235,960,1008	138	127	131		993,993	-4.3	0.9	3	dbSNP_105	131	3304,5296	494.5+/-373.8	634,2036,1630	no	coding-synonymous,coding-synonymous	ACPP	NM_001099.4,NM_001134194.1	,	869,2996,2638	CC,CT,TT		38.4186,32.4557,36.3986	,	331/387,331/419	132075554	4734,8272	2203	4300	6503	SO:0001819	synonymous_variant	55	exon10			GTACTATCGGAAT		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.993T>C	3.37:g.132075554T>C		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_001099	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000336375.5	37	CCDS3073.1	616	0.28205128205128205	156	0.3170731707317073	141	0.38950276243093923	38	0.06643356643356643	281	0.370712401055409	T	9.892	1.204508	0.22205	0.324557	0.384186	ENSG00000014257	ENST00000507647	.	.	.	5.67	-4.32	0.03688	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999822262	.	.	.	.	.	.	T	0.25813	-1.0121	3	.	.	.	.	12.3643	0.55221	0.0:0.5521:0.0:0.4479	rs3181784;rs17182933;rs17408313	.	.	.	T	16	.	.	I	+	2	0	ACPP	133558244	0.994000	0.37717	0.936000	0.37596	0.939000	0.58152	0.006000	0.13152	-1.077000	0.03121	-0.408000	0.06270	ATC	T|0.657;C|0.343	0.343	strong		0.537	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		C	132075554	T	C	132075554	2	2	23	1	0	0	0	0	0	0	0	1	167	1442	50	2		2	ACPP	3	132075554	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1626332	132075554	65946876	1032	17488										
DNAJC13	23317	hgsc.bcm.edu	37	chr3	132241682	132241682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcgtataggttcgaattaCgttaatgaaatttctaccaa	6	8	1	1	rs145242123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:132241682C>T	ENST00000260818.6	+	49	5932	c.5684C>T	c.(5683-5685)aCg>aTg	p.T1895M		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1895					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTCGAATTACGTTAATGAAA	0.333													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18811	0.0		0.001	False		,,,				2504	0.0				p.T1895M		Atlas-SNP	.											.	DNAJC13	253	.	0			c.C5684T						PASS	.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	51	51	51		5684	5.2	1	3	dbSNP_134	51	12,8588	8.4+/-32.0	0,12,4288	yes	missense	DNAJC13	NM_015268.3	81	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	benign	1895/2244	132241682	13,12993	2203	4300	6503	SO:0001583	missense	23317	exon49			GAATTACGTTAAT	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5684C>T	3.37:g.132241682C>T	ENSP00000260818:p.Thr1895Met	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	125	70	0.56	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	8.466	0.856381	0.17106	2.27E-4	0.001395	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.49720	0.77	6.08	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.122360	0.56097	N	0.000036	T	0.42720	0.1215	L	0.58810	1.83	0.31740	N	0.635937	B	0.13145	0.007	B	0.06405	0.002	T	0.47156	-0.9139	10	0.33940	T	0.23	.	9.9625	0.41704	0.0:0.7534:0.0:0.2466	.	1895	O75165	DJC13_HUMAN	M	1895;542	ENSP00000260818:T1895M	ENSP00000260818:T1895M	T	+	2	0	DNAJC13	133724372	0.797000	0.28877	0.995000	0.50966	0.605000	0.37080	1.532000	0.36029	0.919000	0.36945	-0.797000	0.03246	ACG	C|0.998;T|0.002	0.002	strong		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		T	132241682	C	T	132241682	3	4	23	1	0	0	0	0	1	0	0	0	4632	536	19	1	5874	1	DNAJC13	3	132241682	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	166128	132241682	65780748	1033	17489										
CCRL1	51554	hgsc.bcm.edu	37	chr3	132319604	132319604	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttcagccttgtacacactAaactttgtctctggaatgca	6	11	2	0	rs139873131	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:132319604A>C	ENST00000249887.2	+	2	459	c.363A>C	c.(361-363)ctA>ctC	p.L121L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	121					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGTACACACTAAACTTTGTCT	0.423													A|||	32	0.00638978	0.0	0.0072	5008	,	,		26372	0.0		0.0229	False		,,,				2504	0.0041				p.L121L		Atlas-SNP	.											.	CCRL1	30	.	0			c.A363C						PASS	.	A	,,	11,4395	16.8+/-37.8	0,11,2192	98	98	98		363,,363	-2.9	0.3	3	dbSNP_134	98	131,8469	57.9+/-119.4	0,131,4169	no	coding-synonymous,intron,coding-synonymous	CCRL1,ACAD11	NM_016557.2,NM_032169.4,NM_178445.1	,,	0,142,6361	CC,CA,AA		1.5233,0.2497,1.0918	,,	121/351,,121/351	132319604	142,12864	2203	4300	6503	SO:0001819	synonymous_variant	51554	exon1			CACACTAAACTTT	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.363A>C	3.37:g.132319604A>C		Somatic	542	1	0.00184502		WXS	Illumina HiSeq	Phase_I	608	172	0.282895	NM_178445	B2R9U7	Silent	SNP	ENST00000249887.2	37	CCDS3075.1																																																																																			A|0.990;C|0.010	0.010	strong		0.423	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		C	132319604	A	C	132319604	2	2	23	1	0	0	0	0	0	0	0	1	2949	349	13	5		5	CCRL1	3	132319604	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	77922	132319604	65702826	1034	17490										
CEP63	80254	hgsc.bcm.edu	37	chr3	134225969	134225969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggggatttttgacatcttgTgaagcagaactacaggagct	12	6	1	3	rs9827878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:134225969T>C	ENST00000337090.3	+	3	236	c.63T>C	c.(61-63)tgT>tgC	p.C21C	CEP63_ENST00000332047.5_Silent_p.C21C|CEP63_ENST00000354446.3_Silent_p.C21C|CEP63_ENST00000606977.1_Silent_p.C21C|CEP63_ENST00000513612.2_Silent_p.C21C|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Silent_p.C21C			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	21					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGACATCTTGTGAAGCAGAAC	0.348													T|||	861	0.171925	0.1415	0.1153	5008	,	,		14824	0.2183		0.17	False		,,,				2504	0.2076				p.C21C		Atlas-SNP	.											.	CEP63	56	.	0			c.T63C						PASS	.	T	,,,	551,3855	246.8+/-255.3	34,483,1686	97	98	98		63,63,63,63	4.5	1	3	dbSNP_119	98	1342,7258	262.3+/-284.3	108,1126,3066	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEP63	NM_001042383.1,NM_001042384.1,NM_001042400.1,NM_025180.3	,,,	142,1609,4752	CC,CT,TT		15.6047,12.5057,14.5548	,,,	21/496,21/476,21/542,21/704	134225969	1893,11113	2203	4300	6503	SO:0001819	synonymous_variant	80254	exon3			ATCTTGTGAAGCA	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.63T>C	3.37:g.134225969T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	140	72	0.514286	NM_001042383	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	CCDS3086.1																																																																																			T|0.841;C|0.159	0.159	strong		0.348	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		C	134225969	T	C	134225969	2	2	23	1	0	0	0	0	0	0	0	1	3257	1702	59	2		2	CEP63	3	134225969	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1906365	134225969	63796461	1035	17491										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134898742	134898742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacattgaccccttcacttaCgaggatcccaacgaagctgt	7	13	1	1	rs1042787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:134898742C>T	ENST00000398015.3	+	10	2170	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	EPHB1_ENST00000493838.1_Silent_p.Y161Y	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	600					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTTCACTTACGAGGATCCCA	0.488													T|||	2694	0.537939	0.5166	0.5	5008	,	,		22244	0.7282		0.3797	False		,,,				2504	0.5603				p.Y600Y		Atlas-SNP	.											.	EPHB1	519	.	0			c.C1800T						PASS	.	T		1879,2053		457,965,544	217	203	208		1800	-0.7	1	3	dbSNP_107	208	3256,5138		643,1970,1584	yes	coding-synonymous	EPHB1	NM_004441.4		1100,2935,2128	TT,TC,CC		38.7896,47.7874,41.6599		600/985	134898742	5135,7191	1966	4197	6163	SO:0001819	synonymous_variant	2047	exon10			CACTTACGAGGAT	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1800C>T	3.37:g.134898742C>T		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	277	110	0.397112	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																			C|0.508;T|0.492	0.492	strong		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134898742	C	T	134898742	2	4	23	1	0	0	0	0	0	0	0	1	5174	547	19	1		1	EPHB1	3	134898742	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	672773	134898742	63123688	1036	17492										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134898789	134898789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttgccaaggagattgatgTatcttttgtgaaaattgaag	11	3	1	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:134898789T>C	ENST00000398015.3	+	10	2217	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	EPHB1_ENST00000493838.1_Missense_Mutation_p.V177A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	616					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.V616A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGATTGATGTATCTTTTGTG	0.488																																					p.V616A		Atlas-SNP	.											EPHB1_ENST00000398015,rectum,carcinoma,0,2	EPHB1	519	2	2	Substitution - Missense(2)	large_intestine(2)	c.T1847C						scavenged	.						155	149	151					3																	134898789		1956	4168	6124	SO:0001583	missense	2047	exon10			TTGATGTATCTTT	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1847T>C	3.37:g.134898789T>C	ENSP00000381097:p.Val616Ala	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	261	3	0.0114943	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	6.218	0.408331	0.11754	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.08370	3.1;3.1	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.140958	0.46145	D	0.000316	T	0.04952	0.0133	N	0.15975	0.35	0.80722	D	1	B	0.32188	0.359	B	0.28553	0.091	T	0.16867	-1.0388	10	0.02654	T	1	.	16.1997	0.82060	0.0:0.0:0.0:1.0	.	616	P54762	EPHB1_HUMAN	A	616;177	ENSP00000381097:V616A;ENSP00000419574:V177A	ENSP00000381097:V616A	V	+	2	0	EPHB1	136381479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.240000	0.73641	0.528000	0.53228	GTA	.	.	none		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		C	134898789	T	C	134898789	3	2	23	1	0	0	0	0	1	0	0	0	5174	1638	57	2	1885	2	EPHB1	3	134898789	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	47	134898789	63123641	1037	17493										
EPHB1	2047	hgsc.bcm.edu	37	chr3	134911655	134911655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaatggtgcattggattCtttcctcagggtaagagcaa	13	6	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:134911655C>T	ENST00000398015.3	+	11	2490	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	EPHB1_ENST00000493838.1_Missense_Mutation_p.S268F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> T (in an ovarian undifferentiated carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCATTGGATTCTTTCCTCAGG	0.507																																					p.S707F		Atlas-SNP	.											EPHB1_ENST00000398015,colon,carcinoma,-1,7	EPHB1	519	7	0			c.C2120T						scavenged	.						102	98	99					3																	134911655		2183	4297	6480	SO:0001583	missense	2047	exon11			TGGATTCTTTCCT	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2120C>T	3.37:g.134911655C>T	ENSP00000381097:p.Ser707Phe	Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	296	3	0.0101351	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702354	0.88924	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.63744	-0.06;-0.06	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78645	-0.2123	10	0.87932	D	0	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	707	P54762	EPHB1_HUMAN	F	707;268	ENSP00000381097:S707F;ENSP00000419574:S268F	ENSP00000381097:S707F	S	+	2	0	EPHB1	136394345	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.772000	0.85439	2.567000	0.86603	0.561000	0.74099	TCT	.	.	none		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134911655	C	T	134911655	3	4	23	1	0	0	0	0	1	0	0	0	5174	913	32	2	2162	2	EPHB1	3	134911655	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12866	134911655	63110775	1038	17494										
RASA2	5922	hgsc.bcm.edu	37	chr3	141327474	141327474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcatccctctgtgtatctGaacggaaattggctctgctg	9	10	4	1	rs295323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:141327474G>A	ENST00000452898.1	+	21	2198	c.2163G>A	c.(2161-2163)ctG>ctA	p.L721L	RASA2_ENST00000286364.3_Silent_p.L720L|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	721					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L720L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTGTGTATCTGAACGGAAATT	0.438													A|||	2256	0.450479	0.7315	0.4625	5008	,	,		21103	0.2937		0.3797	False		,,,				2504	0.2965				p.L720L		Atlas-SNP	.											RASA2_ENST00000286364,NS,carcinoma,0,1	RASA2	169	1	1	Substitution - coding silent(1)	stomach(1)	c.G2160A						scavenged	.	A		2958,1448	467.4+/-354.8	999,960,244	123	124	124		2160	-10.8	0	3	dbSNP_79	124	3341,5259	643.9+/-400.0	601,2139,1560	no	coding-synonymous	RASA2	NM_006506.2		1600,3099,1804	AA,AG,GG		38.8488,32.8643,48.4315		720/850	141327474	6299,6707	2203	4300	6503	SO:0001819	synonymous_variant	5922	exon21			GTATCTGAACGGA	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2163G>A	3.37:g.141327474G>A		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	227	3	0.0132159	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37																																																																																				G|0.523;A|0.477	0.477	strong		0.438	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		A	141327474	G	A	141327474	2	1	23	1	0	0	0	0	0	0	0	1	13061	1277	45	2		2	RASA2	3	141327474	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6415819	141327474	56694956	1039	17495										
TFDP2	7029	hgsc.bcm.edu	37	chr3	141692893	141692893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagattttctcacttacctcCagattctgacattcctgagc	5	13	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:141692893C>T	ENST00000489671.1	-	8	1090	c.660G>A	c.(658-660)ctG>ctA	p.L220L	TFDP2_ENST00000499676.2_Silent_p.L160L|TFDP2_ENST00000467072.1_Silent_p.L160L|TFDP2_ENST00000310282.6_Silent_p.L160L|TFDP2_ENST00000317104.7_Silent_p.L144L|TFDP2_ENST00000479040.1_Silent_p.L159L|TFDP2_ENST00000397991.4_Silent_p.L192L|TFDP2_ENST00000486111.1_Silent_p.L160L|TFDP2_ENST00000477292.1_Silent_p.L84L|TFDP2_ENST00000495310.1_Silent_p.L123L			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	220	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CACTTACCTCCAGATTCTGAC	0.303																																					p.L220L		Atlas-SNP	.											TFDP2_ENST00000489671,rectum,carcinoma,0,3	TFDP2	44	3	0			c.G660A						scavenged	.						86	80	82					3																	141692893		1843	4118	5961	SO:0001819	synonymous_variant	7029	exon8			TACCTCCAGATTC	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.660G>A	3.37:g.141692893C>T		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	197	3	0.0152284	NM_001178139	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	ENST00000489671.1	37	CCDS54650.1																																																																																			.	.	none		0.303	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		T	141692893	C	T	141692893	2	4	23	1	0	0	0	0	0	0	0	1	15795	581	21	2		2	TFDP2	3	141692893	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	365419	141692893	56329537	1040	17496										
SLC9A9	285195	hgsc.bcm.edu	37	chr3	143293012	143293012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttccagcatcgggaactcAcacagcttggtaaatttggt	10	9	1	0	rs6763202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:143293012A>G	ENST00000316549.6	-	8	1126	c.918T>C	c.(916-918)tgT>tgC	p.C306C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	306					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCGGGAACTCACACAGCTTGG	0.478													G|||	1706	0.340655	0.444	0.3343	5008	,	,		20273	0.251		0.2565	False		,,,				2504	0.3845				p.C306C		Atlas-SNP	.											.	SLC9A9	117	.	0			c.T918C						PASS	.	G		1723,2683	651.1+/-399.2	341,1041,821	61	61	61		918	-3.7	0.4	3	dbSNP_116	61	2111,6489	716.1+/-406.1	251,1609,2440	no	coding-synonymous	SLC9A9	NM_173653.3		592,2650,3261	GG,GA,AA		24.5465,39.1058,29.4787		306/646	143293012	3834,9172	2203	4300	6503	SO:0001819	synonymous_variant	285195	exon8			GAACTCACACAGC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.918T>C	3.37:g.143293012A>G		Somatic	255	1	0.00392157		WXS	Illumina HiSeq	Phase_I	246	124	0.504065	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	CCDS33872.1																																																																																			A|0.684;G|0.316	0.316	strong		0.478	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		G	143293012	A	G	143293012	2	3	23	1	0	0	0	0	0	0	0	1	14721	157	6	2		2	SLC9A9	3	143293012	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1600119	143293012	54729418	1041	17497										
C3orf58	205428	hgsc.bcm.edu	37	chr3	143691672	143691672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggtggagggctggtcggaCctggtgcactgcccctcgca	17	13	0	0	rs151261436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:143691672C>T	ENST00000315691.3	+	1	1033	c.498C>T	c.(496-498)gaC>gaT	p.D166D	C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	166					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGGTCGGACCTGGTGCACT	0.706													C|||	40	0.00798722	0.0	0.0173	5008	,	,		15173	0.0		0.0268	False		,,,				2504	0.001				p.D166D		Atlas-SNP	.											.	C3orf58	36	.	0			c.C498T						PASS	.	C		11,4247		0,11,2118	7	7	7		498	2.7	1	3	dbSNP_134	7	84,8290		0,84,4103	no	coding-synonymous	C3orf58	NM_173552.3		0,95,6221	TT,TC,CC		1.0031,0.2583,0.7521		166/431	143691672	95,12537	2129	4187	6316	SO:0001819	synonymous_variant	205428	exon1			GTCGGACCTGGTG	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.498C>T	3.37:g.143691672C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	36	19	0.527778	NM_173552	B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	CCDS3130.1																																																																																			C|0.989;T|0.011	0.011	strong		0.706	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		T	143691672	C	T	143691672	2	4	23	1	0	0	0	0	0	0	0	1	2236	506	18	2		2	C3orf58	3	143691672	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	398660	143691672	54330758	1042	17498										
GYG1	2992	hgsc.bcm.edu	37	chr3	148727133	148727133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatatcagaaaacacctgccGtttatttataacctaagcag	6	9	1	1	rs4938	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:148727133G>A	ENST00000345003.4	+	5	852	c.552G>A	c.(550-552)ccG>ccA	p.P184P	GYG1_ENST00000484197.1_Silent_p.P184P|GYG1_ENST00000483267.1_Intron|GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Silent_p.P184P	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	184					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AACACCTGCCGTTTATTTATA	0.378													G|||	1509	0.301318	0.2844	0.3055	5008	,	,		16635	0.3284		0.335	False		,,,				2504	0.2587				p.P184P		Atlas-SNP	.											.	GYG1	29	.	0			c.G552A						PASS	.	G	,,	1211,3195	422.1+/-339.6	177,857,1169	109	115	113		552,552,552	0.2	1	3	dbSNP_52	113	2617,5983	424.5+/-354.7	399,1819,2082	no	coding-synonymous,coding-synonymous,coding-synonymous	GYG1	NM_001184720.1,NM_001184721.1,NM_004130.3	,,	576,2676,3251	AA,AG,GG		30.4302,27.4852,29.4326	,,	184/334,184/280,184/351	148727133	3828,9178	2203	4300	6503	SO:0001819	synonymous_variant	2992	exon5			CCTGCCGTTTATT	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.552G>A	3.37:g.148727133G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	91	34	0.373626	NM_004130	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Silent	SNP	ENST00000345003.4	37	CCDS3139.1																																																																																			G|0.703;A|0.297	0.297	strong		0.378	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		A	148727133	G	A	148727133	2	1	23	1	0	0	0	0	0	0	0	1	6905	1132	40	1		1	GYG1	3	148727133	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5035461	148727133	49295297	1043	17499										
CP	1356	hgsc.bcm.edu	37	chr3	148904434	148904434	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatgtacatcggcctcattTccggcgctgaataagtacca	8	13	1	1	rs1053709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:148904434T>G	ENST00000264613.6	-	11	2212	c.1950A>C	c.(1948-1950)ggA>ggC	p.G650G	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	650	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGCCTCATTTCCGGCGCTGA	0.458													T|||	98	0.0195687	0.0008	0.036	5008	,	,		20261	0.001		0.0457	False		,,,				2504	0.0256				p.G650G		Atlas-SNP	.											.	CP	112	.	0			c.A1950C						PASS	.	T		59,4347	55.5+/-91.7	1,57,2145	154	139	144		1950	2.2	1	3	dbSNP_86	144	520,8080	146.2+/-201.8	10,500,3790	no	coding-synonymous	CP	NM_000096.3		11,557,5935	GG,GT,TT		6.0465,1.3391,4.4518		650/1066	148904434	579,12427	2203	4300	6503	SO:0001819	synonymous_variant	1356	exon11			CTCATTTCCGGCG	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1950A>C	3.37:g.148904434T>G		Somatic	288	0	0		WXS	Illumina HiSeq	Phase_I	263	137	0.520913	NM_000096	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																			T|0.962;G|0.038	0.038	strong		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		G	148904434	T	G	148904434	2	3	23	1	0	0	0	0	0	0	0	1	3787	1770	62	5		5	CP	3	148904434	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	177301	148904434	49117996	1044	17500										
EIF2A	83939	hgsc.bcm.edu	37	chr3	150280445	150280445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaacgtggcagccttacaCtagtaagtattttctcagtg	10	9	1	0	rs1132979	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:150280445C>G	ENST00000460851.1	+	4	399	c.290C>G	c.(289-291)aCt>aGt	p.T97S	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.T72S|EIF2A_ENST00000406576.3_Missense_Mutation_p.T97S|EIF2A_ENST00000273435.5_Missense_Mutation_p.T92S			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	97			T -> S (in dbSNP:rs1132979). {ECO:0000269|PubMed:12133843, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.4, ECO:0000269|Ref.6}.		positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.T72S(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGCCTTACACTAGTAAGTAT	0.403													C|||	1774	0.354233	0.1611	0.3631	5008	,	,		16648	0.4861		0.3588	False		,,,				2504	0.4683				p.T97S		Atlas-SNP	.											EIF2A_ENST00000487799,NS,carcinoma,0,1	EIF2A	59	1	1	Substitution - Missense(1)	stomach(1)	c.C290G						PASS	.	C	SER/THR	631,3103		45,541,1281	67	61	63		290	5.9	1	3	dbSNP_86	63	2865,5335		508,1849,1743	yes	missense	EIF2A	NM_032025.3	58	553,2390,3024	GG,GC,CC		34.939,16.8988,29.2945	benign	97/586	150280445	3496,8438	1867	4100	5967	SO:0001583	missense	83939	exon4			CTTACACTAGTAA	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.290C>G	3.37:g.150280445C>G	ENSP00000417229:p.Thr97Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	33	14	0.424242	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	797	0.3649267399267399	90	0.18292682926829268	141	0.38950276243093923	287	0.5017482517482518	279	0.36807387862796836	C	13.40	2.226881	0.39399	0.168988	0.34939	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435	T;T;T;T;T	0.54071	0.9;0.9;0.59;0.9;0.9	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);	0.266752	0.40222	N	0.001157	T	0.00012	0.0000	N	0.05012	-0.13	0.09310	P	1.0	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.12156	0.007;0.002;0.003	T	0.43228	-0.9404	9	0.10902	T	0.67	-6.8954	20.1894	0.98226	0.0:1.0:0.0:0.0	rs1132979;rs2049228;rs3194341;rs11537792;rs16862740;rs17418293;rs52804311;rs1132979	97;72;97	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	S	72;97;97;97;92	ENSP00000420537:T72S;ENSP00000417229:T97S;ENSP00000385292:T97S;ENSP00000418698:T97S;ENSP00000273435:T92S	ENSP00000273435:T92S	T	+	2	0	EIF2A	151763135	0.999000	0.42202	1.000000	0.80357	0.933000	0.57130	2.755000	0.47540	2.781000	0.95711	0.591000	0.81541	ACT	C|0.635;G|0.365	0.365	strong		0.403	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		G	150280445	C	G	150280445	3	3	23	1	0	0	0	0	1	0	0	0	4995	565	20	4	304	4	EIF2A	3	150280445	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1376011	150280445	47741985	1045	17501										
FAM194A	131831	hgsc.bcm.edu	37	chr3	150421419	150421419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcgcacgtctgggaagtcGtcgtcgtagtcaccgatgtc	15	11	2	0	rs17281287	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:150421419G>A	ENST00000295910.6	-	1	319	c.267C>T	c.(265-267)gaC>gaT	p.D89D	RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGGGAAGTCGTCGTCGTAGT	0.622													G|||	1618	0.323083	0.2179	0.4597	5008	,	,		13460	0.3591		0.4632	False		,,,				2504	0.1871				p.D89D		Atlas-SNP	.											FAM194A,NS,adenoma,0,1	FAM194A	91	1	0			c.C267T						PASS	.	G		1162,3244	409.5+/-335.0	152,858,1193	197	162	174		267	-4.4	0	3	dbSNP_123	174	4105,4495	562.1+/-387.9	985,2135,1180	no	coding-synonymous	FAM194A	NM_152394.3		1137,2993,2373	AA,AG,GG		47.7326,26.3731,40.4967		89/664	150421419	5267,7739	2203	4300	6503	SO:0001819	synonymous_variant	131831	exon1			GAAGTCGTCGTCG																												ENST00000295910.6:c.267C>T	3.37:g.150421419G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	101	40	0.39604	NM_152394		Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																			G|0.601;A|0.399	0.399	strong		0.622	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			A	150421419	G	A	150421419	2	1	23	1	0	0	0	0	0	0	0	1	5526	1136	40	1		1	FAM194A	3	150421419	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	140974	150421419	47601011	1046	17502										
P2RY12	64805	hgsc.bcm.edu	37	chr3	151056616	151056616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaccaggcgcagaggtgagGttgtcgacggcttgcatttc	14	9	0	2	rs6785930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151056616G>A	ENST00000302632.3	-	3	317	c.18C>T	c.(16-18)aaC>aaT	p.N6N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	6					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CAGAGGTGAGGTTGTCGACGG	0.458													G|||	1211	0.241813	0.1672	0.2781	5008	,	,		17210	0.2113		0.3151	False		,,,				2504	0.273				p.N6N		Atlas-SNP	.											P2RY12,NS,malignant_melanoma,-1,1	P2RY12	36	1	0			c.C18T						PASS	.	G	,,	836,3570	333.1+/-302.8	80,676,1447	72	68	69		18,,18	4.1	0.9	3	dbSNP_116	69	2721,5879	433.3+/-357.4	427,1867,2006	no	coding-synonymous,intron,coding-synonymous	P2RY12,MED12L	NM_022788.3,NM_053002.4,NM_176876.1	,,	507,2543,3453	AA,AG,GG		31.6395,18.9741,27.3489	,,	6/343,,6/343	151056616	3557,9449	2203	4300	6503	SO:0001819	synonymous_variant	64805	exon3			GGTGAGGTTGTCG	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.18C>T	3.37:g.151056616G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	109	51	0.46789	NM_022788	D3DNJ5|Q546J7	Silent	SNP	ENST00000302632.3	37	CCDS3159.1																																																																																			G|0.736;A|0.264	0.264	strong		0.458	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			A	151056616	G	A	151056616	2	1	23	1	0	0	0	0	0	0	0	1	11349	1252	44	2		2	P2RY12	3	151056616	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	635197	151056616	46965814	1047	17503										
MED12L	116931	hgsc.bcm.edu	37	chr3	151112568	151112568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcttcatgcaatcacatcGcagcagcagttgatacagat	7	11	3	2	rs3732768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151112568G>A	ENST00000474524.1	+	37	5666	c.5628G>A	c.(5626-5628)tcG>tcA	p.S1876S	MED12L_ENST00000273432.4_Silent_p.S1736S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1876						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAATCACATCGCAGCAGCAGT	0.547													G|||	1497	0.298922	0.3707	0.2233	5008	,	,		16917	0.2778		0.2028	False		,,,				2504	0.3763				p.S1876S		Atlas-SNP	.											MED12L,NS,carcinoma,+1,2	MED12L	271	2	0			c.G5628A						PASS	.	G		1547,2859	487.8+/-361.0	282,983,938	90	90	90		5628	-11.8	0	3	dbSNP_107	90	1835,6765	327.5+/-317.9	210,1415,2675	no	coding-synonymous	MED12L	NM_053002.4		492,2398,3613	AA,AG,GG		21.3372,35.1112,26.0034		1876/2146	151112568	3382,9624	2203	4300	6503	SO:0001819	synonymous_variant	116931	exon37			CACATCGCAGCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5628G>A	3.37:g.151112568G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	44	24	0.545455	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																			G|0.724;A|0.276	0.276	strong		0.547	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	151112568	G	A	151112568	2	1	23	1	0	0	0	0	0	0	0	1	9429	1074	38	1		1	MED12L	3	151112568	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	55952	151112568	46909862	1048	17504										
MED12L	116931	hgsc.bcm.edu	37	chr3	151150568	151150568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagcaaggagtgactccGtatgggcatccttcacactt	9	13	1	1	rs142871635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151150568G>A	ENST00000474524.1	+	43	6452	c.6414G>A	c.(6412-6414)ccG>ccA	p.P2138P	MED12L_ENST00000273432.4_Silent_p.P1802P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2138						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGTGACTCCGTATGGGCATC	0.393													G|||	4	0.000798722	0.0	0.0029	5008	,	,		20900	0.0		0.002	False		,,,				2504	0.0				p.P2138P		Atlas-SNP	.											.	MED12L	271	.	0			c.G6414A						PASS	.	G		3,4403	6.2+/-15.9	0,3,2200	111	98	102		6414	-3	1	3	dbSNP_134	102	37,8563	24.6+/-71.5	0,37,4263	no	coding-synonymous	MED12L	NM_053002.4		0,40,6463	AA,AG,GG		0.4302,0.0681,0.3076		2138/2146	151150568	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	116931	exon43			GACTCCGTATGGG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6414G>A	3.37:g.151150568G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	166	90	0.542169	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																			G|0.997;A|0.003	0.003	strong		0.393	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	151150568	G	A	151150568	2	1	23	1	0	0	0	0	0	0	0	1	9429	1132	40	1		1	MED12L	3	151150568	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	38000	151150568	46871862	1049	17505										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151161112	151161112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatcagagaggacccagtAaacgctgggctgaggagttc	14	10	1	2	rs12487205	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151161112A>G	ENST00000282466.3	-	5	5622	c.5623T>C	c.(5623-5625)Tac>Cac	p.Y1875H	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1875	Ig-like C2-type 5.		Y -> H (in dbSNP:rs12487205).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGACCCAGTAAACGCTGGGC	0.423													A|||	131	0.0261581	0.0076	0.0504	5008	,	,		21296	0.0238		0.0358	False		,,,				2504	0.0266				p.Y1875H		Atlas-SNP	.											.	IGSF10	279	.	0			c.T5623C						PASS	.	A	HIS/TYR	63,4343	56.8+/-93.2	0,63,2140	72	74	73		5623	3.2	0.7	3	dbSNP_120	73	315,8285	112.5+/-172.7	4,307,3989	yes	missense	IGSF10	NM_178822.4	83	4,370,6129	GG,GA,AA		3.6628,1.4299,2.9064	benign	1875/2624	151161112	378,12628	2203	4300	6503	SO:0001583	missense	285313	exon5			CCCAGTAAACGCT	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5623T>C	3.37:g.151161112A>G	ENSP00000282466:p.Tyr1875His	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	78	35	0.448718	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	57	0.0260989010989011	5	0.01016260162601626	19	0.052486187845303865	13	0.022727272727272728	20	0.026385224274406333	A	1.558	-0.537371	0.04082	0.014299	0.036628	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66460	-0.21	5.26	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.128097	0.35151	N	0.003416	T	0.06554	0.0168	N	0.01679	-0.765	0.27030	N	0.964264	B	0.06786	0.001	B	0.06405	0.002	T	0.06881	-1.0802	9	.	.	.	.	9.0014	0.36083	0.2633:0.0:0.7367:0.0	rs12487205;rs61027607;rs12487205	1875	Q6WRI0	IGS10_HUMAN	H	1875;502	ENSP00000282466:Y1875H	.	Y	-	1	0	IGSF10	152643802	1.000000	0.71417	0.719000	0.30619	0.927000	0.56198	4.877000	0.63086	0.452000	0.26830	-0.326000	0.08463	TAC	A|0.969;G|0.031	0.031	strong		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		G	151161112	A	G	151161112	3	3	23	1	0	0	0	0	1	0	0	0	7597	362	13	2	2304	2	IGSF10	3	151161112	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10544	151161112	46861318	1050	17506										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151165678	151165678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagagcagatgtacggagTtgtgcacctggtggctcctt	13	9	1	2	rs9871952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151165678T>C	ENST00000282466.3	-	4	2090	c.2091A>G	c.(2089-2091)caA>caG	p.Q697Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	697					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTACGGAGTTGTGCACCTG	0.498													C|||	3938	0.786342	0.8185	0.7695	5008	,	,		20283	0.7649		0.7724	False		,,,				2504	0.7914				p.Q697Q		Atlas-SNP	.											.	IGSF10	279	.	0			c.A2091G						PASS	.	C		3583,823	330.4+/-301.5	1464,655,84	75	70	72		2091	-10.5	0	3	dbSNP_119	72	6533,2067	357.9+/-330.9	2494,1545,261	no	coding-synonymous	IGSF10	NM_178822.4		3958,2200,345	CC,CT,TT		24.0349,18.6791,22.2205		697/2624	151165678	10116,2890	2203	4300	6503	SO:0001819	synonymous_variant	285313	exon4			ACGGAGTTGTGCA	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2091A>G	3.37:g.151165678T>C		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	217	217	1	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			T|0.213;C|0.787	0.787	strong		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165678	T	C	151165678	2	2	23	1	0	0	0	0	0	0	0	1	7597	1722	60	2		2	IGSF10	3	151165678	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4566	151165678	46856752	1051	17507										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151166058	151166058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgataggcttcgaccaaagGttctaccacagttatcctat	7	11	1	1	rs17204557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151166058G>A	ENST00000282466.3	-	4	1710	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	571	Ig-like C2-type 2.		P -> S (in dbSNP:rs17204557).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGACCAAAGGTTCTACCACA	0.418													G|||	217	0.0433307	0.0	0.049	5008	,	,		22532	0.0238		0.0328	False		,,,				2504	0.1288				p.P571S		Atlas-SNP	.											.	IGSF10	279	.	0			c.C1711T						PASS	.	G	SER/PRO	29,4377	31.7+/-61.6	0,29,2174	117	111	113		1711	-1.1	0	3	dbSNP_123	113	311,8289	112.1+/-172.3	4,303,3993	yes	missense	IGSF10	NM_178822.4	74	4,332,6167	AA,AG,GG		3.6163,0.6582,2.6142	benign	571/2624	151166058	340,12666	2203	4300	6503	SO:0001583	missense	285313	exon4			CCAAAGGTTCTAC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1711C>T	3.37:g.151166058G>A	ENSP00000282466:p.Pro571Ser	Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	330	155	0.469697	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	49	0.022435897435897436	0	0.0	19	0.052486187845303865	13	0.022727272727272728	17	0.022427440633245383	G	1.507	-0.550529	0.03996	0.006582	0.036163	ENSG00000152580	ENST00000282466	T	0.33654	1.4	5.17	-1.13	0.09775	Immunoglobulin-like (1);	0.521615	0.16136	N	0.227965	T	0.03348	0.0097	L	0.31157	0.91	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.08207	-1.0733	10	0.52906	T	0.07	.	5.214	0.15332	0.1968:0.0:0.3361:0.4671	rs17204557;rs56530914;rs58807081;rs17204557	571	Q6WRI0	IGS10_HUMAN	S	571	ENSP00000282466:P571S	ENSP00000282466:P571S	P	-	1	0	IGSF10	152648748	0.996000	0.38824	0.003000	0.11579	0.027000	0.11550	0.897000	0.28390	-0.621000	0.05633	-0.840000	0.03056	CCT	G|0.971;A|0.029	0.029	strong		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151166058	G	A	151166058	3	1	23	1	0	0	0	0	1	0	0	0	7597	1261	44	2	6220	2	IGSF10	3	151166058	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	380	151166058	46856372	1052	17508										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151166422	151166422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatcactggagtactggatCtgtaatgtactgaatgtggt	12	6	2	1	rs6798252	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151166422C>T	ENST00000282466.3	-	4	1346	c.1347G>A	c.(1345-1347)caG>caA	p.Q449Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	449					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTACTGGATCTGTAATGTAC	0.433													C|||	3559	0.710663	0.7057	0.7089	5008	,	,		23053	0.7401		0.7356	False		,,,				2504	0.6626				p.Q449Q		Atlas-SNP	.											.	IGSF10	279	.	0			c.G1347A						PASS	.	C		3099,1307	696.9+/-406.1	1084,931,188	159	143	149		1347	0.2	1	3	dbSNP_116	149	6211,2389	700.9+/-405.2	2250,1711,339	no	coding-synonymous	IGSF10	NM_178822.4		3334,2642,527	TT,TC,CC		27.7791,29.6641,28.4177		449/2624	151166422	9310,3696	2203	4300	6503	SO:0001819	synonymous_variant	285313	exon4			CTGGATCTGTAAT	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1347G>A	3.37:g.151166422C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	63	26	0.412698	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			C|0.276;N|0.000	.	strong		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151166422	C	T	151166422	2	4	23	1	0	0	0	0	0	0	0	1	7597	912	32	2		2	IGSF10	3	151166422	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	364	151166422	46856008	1053	17509										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151171439	151171439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggagaaagttgagcccatAaaaaacctctgggtttataa	10	7	1	2	rs7619322	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151171439A>C	ENST00000282466.3	-	3	447	c.448T>G	c.(448-450)Tat>Gat	p.Y150D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	150			Y -> D (in dbSNP:rs7619322).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAGCCCATAAAAAACCTCT	0.423													A|||	3645	0.727835	0.6891	0.7075	5008	,	,		16508	0.745		0.7435	False		,,,				2504	0.7607				p.Y150D		Atlas-SNP	.											.	IGSF10	279	.	0			c.T448G						PASS	.	A	ASP/TYR	3031,1375	682.8+/-404.2	1038,955,210	75	82	79		448	-2.5	0	3	dbSNP_116	79	6262,2338	702.1+/-405.3	2290,1682,328	yes	missense	IGSF10	NM_178822.4	160	3328,2637,538	CC,CA,AA		27.186,31.2074,28.5484	possibly-damaging	150/2624	151171439	9293,3713	2203	4300	6503	SO:0001583	missense	285313	exon3			GCCCATAAAAAAC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.448T>G	3.37:g.151171439A>C	ENSP00000282466:p.Tyr150Asp	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	144	65	0.451389	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	1613	0.7385531135531136	357	0.725609756097561	254	0.7016574585635359	431	0.7534965034965035	571	0.7532981530343008	A	15.79	2.936281	0.52972	0.687926	0.72814	ENSG00000152580	ENST00000282466	T	0.51574	0.7	5.53	-2.47	0.06442	.	0.700710	0.12290	N	0.482074	T	0.00012	0.0000	N	0.02916	-0.46	0.30101	P	0.807391	P	0.50710	0.938	P	0.55087	0.768	T	0.47058	-0.9146	9	0.30854	T	0.27	.	0.6669	0.00852	0.4402:0.1168:0.2:0.243	rs7619322;rs52823444;rs60638999;rs7619322	150	Q6WRI0	IGS10_HUMAN	D	150	ENSP00000282466:Y150D	ENSP00000282466:Y150D	Y	-	1	0	IGSF10	152654129	1.000000	0.71417	0.026000	0.17262	0.939000	0.58152	2.414000	0.44627	-0.442000	0.07190	0.528000	0.53228	TAT	A|0.276;C|0.724	0.724	strong		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151171439	A	C	151171439	3	2	23	1	0	0	0	0	1	0	0	0	7597	362	13	5	7487	5	IGSF10	3	151171439	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5017	151171439	46850991	1054	17510										
IGSF10	285313	hgsc.bcm.edu	37	chr3	151171542	151171542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgaagttttcggactttAttatagctcatttttaagac	6	6	2	2	rs7621591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:151171542A>G	ENST00000282466.3	-	3	344	c.345T>C	c.(343-345)aaT>aaC	p.N115N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCGGACTTTATTATAGCTCA	0.323													G|||	4065	0.811701	0.8926	0.781	5008	,	,		15197	0.7649		0.7714	False		,,,				2504	0.8139				p.N115N		Atlas-SNP	.											.	IGSF10	279	.	0			c.T345C						PASS	.	G		3682,600		1589,504,48	72	80	77		345	1.7	1	3	dbSNP_116	77	6604,1968		2570,1464,252	no	coding-synonymous	IGSF10	NM_178822.4		4159,1968,300	GG,GA,AA		22.9585,14.0121,19.9782		115/2624	151171542	10286,2568	2141	4286	6427	SO:0001819	synonymous_variant	285313	exon3			GACTTTATTATAG	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.345T>C	3.37:g.151171542A>G		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	76	76	1	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			A|0.195;G|0.805	0.805	strong		0.323	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		G	151171542	A	G	151171542	2	3	23	1	0	0	0	0	0	0	0	1	7597	446	16	2		2	IGSF10	3	151171542	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	103	151171542	46850888	1055	17511										
PLCH1	23007	hgsc.bcm.edu	37	chr3	155301264	155301264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taacagtctaatgataccttTtgctccaccttcaaaaactg	4	11	2	1	rs9289957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:155301264T>C	ENST00000340059.7	-	5	731	c.732A>G	c.(730-732)caA>caG	p.Q244Q	PLCH1_ENST00000460012.1_Silent_p.Q226Q|PLCH1_ENST00000334686.6_Silent_p.Q226Q|PLCH1_ENST00000494598.1_Silent_p.Q244Q|PLCH1_ENST00000414191.1_Silent_p.Q226Q|PLCH1_ENST00000447496.2_Silent_p.Q244Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	244					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGATACCTTTTGCTCCACCT	0.338													T|||	108	0.0215655	0.0008	0.0346	5008	,	,		15835	0.0		0.0726	False		,,,				2504	0.0102				p.Q244Q		Atlas-SNP	.											.	PLCH1	406	.	0			c.A732G						PASS	.	T	,,	54,4352	52.3+/-87.9	0,54,2149	99	104	103		732,732,678	2.8	1	3	dbSNP_119	103	576,8024	152.7+/-207.2	18,540,3742	no	coding-synonymous,coding-synonymous,coding-synonymous	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	18,594,5891	CC,CT,TT		6.6977,1.2256,4.8439	,,	244/1694,244/1003,226/1656	155301264	630,12376	2203	4300	6503	SO:0001819	synonymous_variant	23007	exon5			TACCTTTTGCTCC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.732A>G	3.37:g.155301264T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	140	74	0.528571	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																			T|0.957;C|0.043	0.043	strong		0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		C	155301264	T	C	155301264	2	2	23	1	0	0	0	0	0	0	0	1	12037	1838	64	2		2	PLCH1	3	155301264	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4129722	155301264	42721166	1056	17512										
MFSD1	64747	hgsc.bcm.edu	37	chr3	158520011	158520011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgaggccgacagaggtgccCcggccgcccctggagccctg	15	17	0	1	rs28364680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:158520011C>T	ENST00000264266.8	+	1	132	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	MFSD1_ENST00000392813.4_Missense_Mutation_p.P73S|MFSD1_ENST00000415822.2_Missense_Mutation_p.P73S|RP11-379F4.9_ENST00000607044.1_RNA			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	24			P -> S (in dbSNP:rs28364680). {ECO:0000269|PubMed:14702039}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGAGGTGCCCCGGCCGCCCC	0.692													C|||	714	0.142572	0.1293	0.1282	5008	,	,		11497	0.1915		0.1501	False		,,,				2504	0.1125				p.P73S	Pancreas(62;1186 1654 36636 37908)	Atlas-SNP	.											.	MFSD1	88	.	0			c.C217T						PASS	.	C	SER/PRO,SER/PRO	517,3867		33,451,1708	13	15	14		217,217	3.2	0	3	dbSNP_125	14	968,7606		69,830,3388	no	missense,missense	MFSD1	NM_022736.2,NM_001167903.1	74,74	102,1281,5096	TT,TC,CC		11.2899,11.7929,11.4601	benign,benign	73/515,73/476	158520011	1485,11473	2192	4287	6479	SO:0001583	missense	64747	exon1			GGTGCCCCGGCCG	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.70C>T	3.37:g.158520011C>T	ENSP00000264266:p.Pro24Ser	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	32	23	0.71875	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		343	0.15705128205128205	68	0.13821138211382114	52	0.143646408839779	107	0.18706293706293706	116	0.15303430079155672	C	17.11	3.306231	0.60305	0.117929	0.112899	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.18502	2.27;2.21;2.33	5.04	3.15	0.36227	Major facilitator superfamily domain, general substrate transporter (1);	1.418460	0.04299	N	0.347069	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.34054	-0.9844	9	0.07325	T	0.83	.	4.8323	0.13447	0.1563:0.6111:0.1508:0.0818	rs28364680;rs59115350	73;24	C9JS94;Q9H3U5	.;MFSD1_HUMAN	S	73;73;24;24	ENSP00000403117:P73S;ENSP00000376560:P73S;ENSP00000264266:P24S	ENSP00000264266:P24S	P	+	1	0	MFSD1	160002705	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.207000	0.03008	1.105000	0.41606	0.563000	0.77884	CCG	C|0.842;T|0.158	0.158	strong		0.692	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		T	158520011	C	T	158520011	3	4	23	1	0	0	0	0	1	0	0	0	9527	623	22	2	219	2	MFSD1	3	158520011	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3218747	158520011	39502419	1057	17513										
MFSD1	64747	hgsc.bcm.edu	37	chr3	158538056	158538056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctccttacccctgtggctTatatttatcatctgtgtctg	6	11	4	0	rs4680469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:158538056T>C	ENST00000264266.8	+	9	866	c.804T>C	c.(802-804)ctT>ctC	p.L268L	MFSD1_ENST00000392813.4_Silent_p.L278L|MFSD1_ENST00000415822.2_Silent_p.L317L			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCTGTGGCTTATATTTATCA	0.343													C|||	767	0.153155	0.0492	0.2176	5008	,	,		16270	0.1389		0.2296	False		,,,				2504	0.184				p.L317L	Pancreas(62;1186 1654 36636 37908)	Atlas-SNP	.											.	MFSD1	88	.	0			c.T951C						PASS	.	C	,	385,4021	790.9+/-415.1	19,347,1837	207	187	194		834,951	-2.7	0.2	3	dbSNP_111	194	1973,6625	721.9+/-406.4	229,1515,2555	no	coding-synonymous,coding-synonymous	MFSD1	NM_001167903.1,NM_022736.2	,	248,1862,4392	CC,CT,TT		22.9472,8.7381,18.1329	,	278/476,317/515	158538056	2358,10646	2203	4299	6502	SO:0001819	synonymous_variant	64747	exon9			GTGGCTTATATTT	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.804T>C	3.37:g.158538056T>C		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	219	113	0.515982	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37																																																																																				T|0.820;C|0.180	0.180	strong		0.343	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		C	158538056	T	C	158538056	2	2	23	1	0	0	0	0	0	0	0	1	9527	1741	61	2		2	MFSD1	3	158538056	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	18045	158538056	39484374	1058	17514										
SMC4	10051	hgsc.bcm.edu	37	chr3	160146646	160146646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaactcaaggcccaacaagAcaaacttgataaaataaata	4	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:160146646A>G	ENST00000357388.3	+	18	3162	c.2711A>G	c.(2710-2712)gAc>gGc	p.D904G	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.D879G|SMC4_ENST00000462787.1_Missense_Mutation_p.D904G|SMC4_ENST00000344722.5_Missense_Mutation_p.D904G|SMC4_ENST00000360111.2_Missense_Mutation_p.D904G	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	904					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)			GCCCAACAAGACAAACTTGAT	0.378																																					p.D904G		Atlas-SNP	.											SMC4,bladder,carcinoma,+1,1	SMC4	135	1	0			c.A2711G						scavenged	.						126	120	122					3																	160146646		2203	4300	6503	SO:0001583	missense	10051	exon17			AACAAGACAAACT	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.2711A>G	3.37:g.160146646A>G	ENSP00000349961:p.Asp904Gly	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	263	4	0.0152091	NM_005496	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502369	0.85176	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77750	-1.12;-1.12;-0.86;-1.12;-1.12	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.039653	0.85682	D	0.000000	D	0.83216	0.5206	M	0.79805	2.47	0.80722	D	1	P;B;P;B	0.40398	0.532;0.009;0.716;0.109	B;B;P;B	0.45610	0.423;0.065;0.487;0.174	D	0.83591	0.0123	10	0.44086	T	0.13	-19.3703	16.6406	0.85098	1.0:0.0:0.0:0.0	.	904;879;879;904	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	G	904;904;879;904;904;498	ENSP00000349961:D904G;ENSP00000353225:D904G;ENSP00000417964:D879G;ENSP00000420734:D904G;ENSP00000341382:D904G	ENSP00000341382:D904G	D	+	2	0	SMC4	161629340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.142000	0.94618	2.326000	0.78906	0.533000	0.62120	GAC	.	.	none		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			G	160146646	A	G	160146646	3	3	23	1	0	0	0	0	1	0	0	0	14785	275	10	2	2777	2	SMC4	3	160146646	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1608590	160146646	37875784	1059	17515										
SLITRK3	22865	hgsc.bcm.edu	37	chr3	164906800	164906800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgggcaaagaacttccaGctcaatagtgcgcacatcac	8	13	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:164906800G>T	ENST00000475390.1	-	2	2262	c.1819C>A	c.(1819-1821)Ctg>Atg	p.L607M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L607M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	607	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGAACTTCCAGCTCAATAGTG	0.542										HNSCC(40;0.11)																											p.L607M		Atlas-SNP	.											.	SLITRK3	263	.	0			c.C1819A						PASS	.						61	57	58					3																	164906800		2203	4300	6503	SO:0001583	missense	22865	exon2			CTTCCAGCTCAAT	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1819C>A	3.37:g.164906800G>T	ENSP00000420091:p.Leu607Met	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	87	15	0.172414	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	6.538	0.467489	0.12402	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54675	0.56;0.56	5.76	4.8	0.61643	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.30185	N	0.010219	T	0.32133	0.0819	N	0.10809	0.05	0.33093	D	0.538255	B	0.12013	0.005	B	0.11329	0.006	T	0.36890	-0.9729	10	0.45353	T	0.12	-9.1664	9.2667	0.37645	0.0785:0.0:0.7817:0.1398	.	607	O94933	SLIK3_HUMAN	M	607	ENSP00000420091:L607M;ENSP00000241274:L607M	ENSP00000241274:L607M	L	-	1	2	SLITRK3	166389494	0.021000	0.18746	0.997000	0.53966	0.879000	0.50718	0.452000	0.21795	1.403000	0.46800	0.655000	0.94253	CTG	.	.	none		0.542	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164906800	G	T	164906800	3	4	23	1	0	0	0	0	1	0	0	0	14744	962	34	4	1118	4	SLITRK3	3	164906800	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4760154	164906800	33115630	1060	17516										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167023573	167023573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacctagcaaagtgtccttgCtttcaagtgatacacaggaa	8	9	1	1	rs140166106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:167023573C>T	ENST00000392766.2	-	17	1923	c.1583G>A	c.(1582-1584)aGc>aAc	p.S528N	ZBBX_ENST00000392767.2_Missense_Mutation_p.S528N|ZBBX_ENST00000392764.1_Missense_Mutation_p.S499N|ZBBX_ENST00000307529.5_Missense_Mutation_p.S528N|ZBBX_ENST00000455345.2_Missense_Mutation_p.S528N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	528						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTGTCCTTGCTTTCAAGTGA	0.338													C|||	36	0.0071885	0.0015	0.0029	5008	,	,		14470	0.001		0.0189	False		,,,				2504	0.0123				p.S528N		Atlas-SNP	.											.	ZBBX	299	.	0			c.G1583A						PASS	.	C	ASN/SER,ASN/SER,ASN/SER	9,3615		0,9,1803	74	64	67		1583,1496,1583	-0.1	0	3	dbSNP_134	67	160,7990		0,160,3915	yes	missense,missense,missense	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	46,46,46	0,169,5718	TT,TC,CC		1.9632,0.2483,1.4354	benign,benign,benign	528/840,499/772,528/801	167023573	169,11605	1812	4075	5887	SO:0001583	missense	79740	exon17			TCCTTGCTTTCAA	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1583G>A	3.37:g.167023573C>T	ENSP00000376519:p.Ser528Asn	Somatic	343	0	0		WXS	Illumina HiSeq	Phase_I	310	125	0.403226	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	16	0.007326007326007326	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	12	0.0158311345646438	C	0.841	-0.741910	0.03088	0.002483	0.019632	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11169	2.97;2.97;2.97;2.97;2.8	5.0	-0.114	0.13564	.	0.723811	0.14467	N	0.317853	T	0.04003	0.0112	L	0.53249	1.67	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.0	T	0.36601	-0.9741	10	0.23302	T	0.38	0.5835	4.5456	0.12079	0.1438:0.5214:0.0:0.3348	.	528;528	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	528;528;528;528;499	ENSP00000376519:S528N;ENSP00000376520:S528N;ENSP00000390232:S528N;ENSP00000305065:S528N;ENSP00000376517:S499N	ENSP00000305065:S528N	S	-	2	0	ZBBX	168506267	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.791000	0.04599	-0.141000	0.11374	-0.766000	0.03442	AGC	C|0.989;T|0.011	0.011	strong		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		T	167023573	C	T	167023573	3	4	23	1	0	0	0	0	1	0	0	0	17513	797	28	2	839	2	ZBBX	3	167023573	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2116773	167023573	30998857	1061	17517										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167184878	167184878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacccaggtacttatcatcTctgcacaagcctttgcatct	5	14	3	0	rs9841174	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:167184878T>C	ENST00000476257.1	-	4	741	c.443A>G	c.(442-444)gAg>gGg	p.E148G	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E148G|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E148G|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E148G|SERPINI2_ENST00000465031.1_5'Flank			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	148			E -> G (in dbSNP:rs9841174).		cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTTATCATCTCTGCACAAGC	0.338													t|||	2066	0.41254	0.3737	0.379	5008	,	,		14394	0.506		0.4006	False		,,,				2504	0.4049				p.E158G		Atlas-SNP	.											.	SERPINI2	85	.	0			c.A473G						PASS	.	C	GLY/GLU	1610,2796	496.5+/-363.6	307,996,900	93	93	93		443	3.3	1	3	dbSNP_119	93	3261,5339	488.2+/-372.3	638,1985,1677	yes	missense	SERPINI2	NM_006217.3	98	945,2981,2577	CC,CT,TT		37.9186,36.5411,37.4519	possibly-damaging	148/406	167184878	4871,8135	2203	4300	6503	SO:0001583	missense	5276	exon4			ATCATCTCTGCAC	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.443A>G	3.37:g.167184878T>C	ENSP00000420621:p.Glu148Gly	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	127	61	0.480315	NM_001012303		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	929	0.42536630036630035	202	0.4105691056910569	144	0.39779005524861877	282	0.493006993006993	301	0.3970976253298153	t	15.95	2.984489	0.53934	0.365411	0.379186	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.7	3.34	0.38264	Serpin domain (3);	0.464061	0.24613	N	0.037024	T	0.00012	0.0000	L	0.42632	1.34	0.43683	P	0.003878999999999966	P	0.40578	0.722	B	0.43990	0.438	T	0.30238	-0.9985	9	0.52906	T	0.07	.	10.0587	0.42261	0.0:0.1354:0.0:0.8646	rs9841174;rs52836184;rs61562449;rs9841174	148	O75830	SPI2_HUMAN	G	148;148;148;148;148;133	ENSP00000420621:E148G;ENSP00000417692:E148G;ENSP00000264677:E148G;ENSP00000419407:E148G;ENSP00000417752:E148G;ENSP00000419255:E133G	ENSP00000264677:E148G	E	-	2	0	SERPINI2	168667572	1.000000	0.71417	0.966000	0.40874	0.567000	0.35839	2.515000	0.45512	0.452000	0.26830	-0.253000	0.11424	GAG	C|0.395;N|0.001	0.395	strong		0.338	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		C	167184878	T	C	167184878	3	2	23	1	0	0	0	0	1	0	0	0	14119	1551	54	3	802	3	SERPINI2	3	167184878	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	161305	167184878	30837552	1062	17518										
SERPINI2	5276	hgsc.bcm.edu	37	chr3	167189607	167189607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcaatagaagactccacaAgaagattgtgtccattttga	8	8	0	5	rs17246389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:167189607A>C	ENST00000476257.1	-	3	314	c.16T>G	c.(16-18)Ttg>Gtg	p.L6V	SERPINI2_ENST00000264677.4_Missense_Mutation_p.L6V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L6V|SERPINI2_ENST00000471111.1_Missense_Mutation_p.L6V|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	6			L -> V (in dbSNP:rs17246389).		cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGACTCCACAAGAAGATTGTG	0.338													A|||	840	0.167732	0.056	0.134	5008	,	,		16707	0.0972		0.2624	False		,,,				2504	0.318				p.L16V		Atlas-SNP	.											.	SERPINI2	85	.	0			c.T46G	GRCh37	CM067714	SERPINI2	M	rs17246389	PASS	.	A	VAL/LEU	391,4015	191.2+/-216.9	14,363,1826	108	120	116		16	-1.4	0	3	dbSNP_123	116	2220,6378	375.5+/-337.8	304,1612,2383	yes	missense	SERPINI2	NM_006217.3	32	318,1975,4209	CC,CA,AA		25.82,8.8743,20.0784	possibly-damaging	6/406	167189607	2611,10393	2203	4299	6502	SO:0001583	missense	5276	exon3			TCCACAAGAAGAT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.16T>G	3.37:g.167189607A>C	ENSP00000420621:p.Leu6Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	61	34	0.557377	NM_001012303		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	338	0.15476190476190477	31	0.06300813008130081	56	0.15469613259668508	52	0.09090909090909091	199	0.262532981530343	A	10.34	1.322455	0.23994	0.088743	0.2582	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	T;T;T;T;T;T	0.81247	-0.94;-0.94;-0.94;-0.94;-0.94;-1.47	5.41	-1.41	0.08941	Serpin domain (1);	0.649667	0.14912	N	0.291166	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	P;P	0.37781	0.608;0.608	B;B	0.32090	0.14;0.14	T	0.01972	-1.1237	9	0.72032	D	0.01	.	9.7473	0.40455	0.5821:0.0:0.4179:0.0	rs17246389;rs52822774;rs59746421;rs17246389	6;6	B4DDY9;O75830	.;SPI2_HUMAN	V	6	ENSP00000420621:L6V;ENSP00000417692:L6V;ENSP00000264677:L6V;ENSP00000419407:L6V;ENSP00000417752:L6V;ENSP00000419255:L6V	ENSP00000264677:L6V	L	-	1	2	SERPINI2	168672301	0.030000	0.19436	0.010000	0.14722	0.015000	0.08874	0.115000	0.15540	-0.484000	0.06763	-0.417000	0.06048	TTG	A|0.830;C|0.170	0.170	strong		0.338	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		C	167189607	A	C	167189607	3	2	23	1	0	0	0	0	1	0	0	0	14119	69	3	5	1233	5	SERPINI2	3	167189607	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4729	167189607	30832823	1063	17519										
GOLIM4	27333	hgsc.bcm.edu	37	chr3	167747022	167747022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcaccacctccttcctctCcttggattccctggtcctct	4	19	3	0	rs61743591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:167747022C>T	ENST00000470487.1	-	11	2191	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	GOLIM4_ENST00000309027.4_Missense_Mutation_p.G473E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	501	Gln-rich.|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						TCCTTCCTCTCCTTGGATTCC	0.373													T|||	134	0.0267572	0.0068	0.0115	5008	,	,		15771	0.0308		0.0537	False		,,,				2504	0.0327				p.G501E		Atlas-SNP	.											GOLIM4,NS,carcinoma,-1,1	GOLIM4	71	1	0			c.G1502A						PASS	.	T	GLU/GLY	89,4317	818.1+/-416.3	0,89,2114	130	112	118		1502	5	1	3	dbSNP_129	118	556,8044	794.4+/-407.5	23,510,3767	yes	missense	GOLIM4	NM_014498.3	98	23,599,5881	TT,TC,CC		6.4651,2.02,4.9592	benign	501/697	167747022	645,12361	2203	4300	6503	SO:0001583	missense	27333	exon11			TCCTCTCCTTGGA	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.1502G>A	3.37:g.167747022C>T	ENSP00000417354:p.Gly501Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	118	116	0.983051	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	63	0.028846153846153848	5	0.01016260162601626	4	0.011049723756906077	10	0.017482517482517484	44	0.05804749340369393	T	5.739	0.320877	0.10845	0.0202	0.064651	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.222920	0.47455	N	0.000232	T	0.00552	0.0018	N	0.00069	-2.28	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33777	-0.9855	9	0.02654	T	1	-10.1009	10.7675	0.46303	0.0:0.0753:0.0:0.9246	.	473;501	F8W785;O00461	.;GOLI4_HUMAN	E	501;473	.	ENSP00000309893:G473E	G	-	2	0	GOLIM4	169229716	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.289000	0.59013	0.758000	0.33059	-0.391000	0.06502	GGA	C|0.956;T|0.044	0.044	strong		0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			T	167747022	C	T	167747022	3	4	23	1	0	0	0	0	1	0	0	0	6566	855	30	2	612	2	GOLIM4	3	167747022	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	557415	167747022	30275408	1064	17520										
SLC7A14	57709	hgsc.bcm.edu	37	chr3	170198898	170198898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagcgctgccaggaacccCgacacgatgcaggccaccac	12	16	0	0	rs3732449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:170198898C>T	ENST00000231706.5	-	7	1488	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	391			S -> L (in RP68; uncertain pathological significance). {ECO:0000269|PubMed:24670872}.		negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCAGGAACCCCGACACGATGC	0.587													c|||	1690	0.33746	0.5212	0.2608	5008	,	,		18123	0.3849		0.1968	False		,,,				2504	0.2393				p.S391S		Atlas-SNP	.											.	SLC7A14	110	.	0			c.G1173A						PASS	.	T		2131,2275	578.2+/-384.6	503,1125,575	54	47	50		1173	-10.6	0.1	3	dbSNP_107	50	1557,7043	293.4+/-301.3	134,1289,2877	no	coding-synonymous	SLC7A14	NM_020949.2		637,2414,3452	TT,TC,CC		18.1047,48.3659,28.3561		391/772	170198898	3688,9318	2203	4300	6503	SO:0001819	synonymous_variant	57709	exon7			GAACCCCGACACG	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1173G>A	3.37:g.170198898C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	104	42	0.403846	NM_020949	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																			C|0.688;T|0.312	0.312	strong		0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170198898	C	T	170198898	2	4	23	1	0	0	0	0	0	0	0	1	14696	639	23	1		1	SLC7A14	3	170198898	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2451876	170198898	27823532	1065	17521										
FNDC3B	64778	hgsc.bcm.edu	37	chr3	172061988	172061988	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagagctggagtgcaccgtCggcaacctgcttcctggaac	12	14	0	1	rs200807692		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:172061988C>T	ENST00000336824.4	+	19	2289	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V	FNDC3B_ENST00000416957.1_Silent_p.V730V|FNDC3B_ENST00000415807.2_Silent_p.V730V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	730	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTGCACCGTCGGCAACCTGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18074	0.001		0.0	False		,,,				2504	0.0				p.V730V		Atlas-SNP	.											.	FNDC3B	118	.	0			c.C2190T						PASS	.						183	166	172					3																	172061988		2203	4300	6503	SO:0001819	synonymous_variant	64778	exon19			CACCGTCGGCAAC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2190C>T	3.37:g.172061988C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	178	90	0.505618	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																			C|1.000;T|0.000	0.000	strong		0.567	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		T	172061988	C	T	172061988	2	4	23	1	0	0	0	0	0	0	0	1	5970	871	31	1		1	FNDC3B	3	172061988	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1863090	172061988	25960442	1066	17522										
GHSR	2693	hgsc.bcm.edu	37	chr3	172165757	172165757	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaccaccaccttggcccgGagtgggaagcagatggcgaa	15	11	0	2	rs2232169	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:172165757G>C	ENST00000241256.2	-	1	489	c.447C>G	c.(445-447)ctC>ctG	p.L149L	GHSR_ENST00000427970.1_Silent_p.L149L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	149					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTTGGCCCGGAGTGGGAAGC	0.622													C|||	158	0.0315495	0.0658	0.0231	5008	,	,		19788	0.0		0.0278	False		,,,				2504	0.0276				p.L149L	Esophageal Squamous(93;641 1401 20883 29581 34638)	Atlas-SNP	.											GHSR_ENST00000427970,NS,carcinoma,-2,1	GHSR	104	1	0			c.C447G						PASS	.	C	,	301,4105	793.5+/-415.2	7,287,1909	56	55	55		447,447	4.7	1	3	dbSNP_98	55	252,8348	806.8+/-407.2	5,242,4053	no	coding-synonymous,coding-synonymous	GHSR	NM_004122.2,NM_198407.2	,	12,529,5962	CC,CG,GG		2.9302,6.8316,4.2519	,	149/290,149/367	172165757	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	2693	exon1			GGCCCGGAGTGGG	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.447C>G	3.37:g.172165757G>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	125	56	0.448	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																			G|0.963;C|0.037	0.037	strong		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		C	172165757	G	C	172165757	2	2	23	1	0	0	0	0	0	0	0	1	6375	1161	41	4		4	GHSR	3	172165757	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	103769	172165757	25856673	1067	17523										
ATP11B	23200	hgsc.bcm.edu	37	chr3	182614493	182614493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attctttctgtttagatgttTggaaactggacatttggcac	9	6	2	1	rs4859142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:182614493T>C	ENST00000323116.5	+	26	3248	c.2988T>C	c.(2986-2988)ttT>ttC	p.F996F		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	996					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTAGATGTTTGGAAACTGGA	0.323													T|||	719	0.14357	0.3472	0.1081	5008	,	,		17954	0.0417		0.0895	False		,,,				2504	0.0542				p.F996F		Atlas-SNP	.											.	ATP11B	115	.	0			c.T2988C						PASS	.	T		1361,3045	452.6+/-350.1	208,945,1050	252	246	248		2988	4.5	1	3	dbSNP_111	248	858,7740	195.2+/-240.5	39,780,3480	no	coding-synonymous	ATP11B	NM_014616.1		247,1725,4530	CC,CT,TT		9.9791,30.8897,17.064		996/1178	182614493	2219,10785	2203	4299	6502	SO:0001819	synonymous_variant	23200	exon26			GATGTTTGGAAAC	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2988T>C	3.37:g.182614493T>C		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	243	98	0.403292	NM_014616	Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	CCDS33896.1	294	0.1346153846153846	156	0.3170731707317073	38	0.10497237569060773	25	0.043706293706293704	75	0.09894459102902374	T	9.681	1.149424	0.21288	0.308897	0.099791	ENSG00000058063	ENST00000498086	.	.	.	5.66	4.5	0.54988	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.20207	-1.0282	3	.	.	.	.	11.301	0.49306	0.0:0.0712:0.0:0.9288	rs4859142;rs56539343;rs4859142	.	.	.	S	797	.	.	L	+	2	0	ATP11B	184097187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.720000	0.68470	0.979000	0.38497	0.455000	0.32223	TTG	T|0.842;C|0.158	0.158	strong		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		C	182614493	T	C	182614493	2	2	23	1	0	0	0	0	0	0	0	1	1120	1809	63	2		2	ATP11B	3	182614493	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10448736	182614493	15407937	1068	17524										
ABCC5	10057	hgsc.bcm.edu	37	chr3	183660585	183660585	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggatactttctttaggacGagagggaggttttctcggta	13	5	2	1	rs3749442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:183660585G>A	ENST00000334444.6	-	25	3864	c.3624C>T	c.(3622-3624)ctC>ctT	p.L1208L	ABCC5_ENST00000265586.6_Silent_p.L1165L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1208	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCTTTAGGACGAGAGGGAGGT	0.507													G|||	1247	0.249002	0.1944	0.2709	5008	,	,		20136	0.4365		0.1769	False		,,,				2504	0.1881				p.L1208L		Atlas-SNP	.											.	ABCC5	142	.	0			c.C3624T						PASS	.	G		631,3227		49,533,1347	96	93	94		3624	3.4	1	3	dbSNP_107	94	1436,6808		136,1164,2822	no	coding-synonymous	ABCC5	NM_005688.2		185,1697,4169	AA,AG,GG		17.4187,16.3556,17.0798		1208/1438	183660585	2067,10035	1929	4122	6051	SO:0001819	synonymous_variant	10057	exon25			TAGGACGAGAGGG	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3624C>T	3.37:g.183660585G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	119	48	0.403361	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																			G|0.765;A|0.235	0.235	strong		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183660585	G	A	183660585	2	1	23	1	0	0	0	0	0	0	0	1	56	1045	37	1		1	ABCC5	3	183660585	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1046092	183660585	14361845	1069	17525										
CHRD	8646	hgsc.bcm.edu	37	chr3	184099378	184099378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgaccgcggggagccaggCgctgaggagcgggcccgtgg	21	12	0	1	rs35929225	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:184099378C>A	ENST00000204604.1	+	4	723	c.477C>A	c.(475-477)ggC>ggA	p.G159G	CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Silent_p.G159G|CHRD_ENST00000348986.3_Silent_p.G159G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	159					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGAGCCAGGCGCTGAGGAGC	0.697													C|||	814	0.16254	0.0862	0.1988	5008	,	,		13339	0.0724		0.3131	False		,,,				2504	0.1779				p.G159G		Atlas-SNP	.											.	CHRD	149	.	0			c.C477A						PASS	.	C		509,3847		32,445,1701	10	15	13		477	-1.9	0	3	dbSNP_126	13	2737,5827		458,1821,2003	no	coding-synonymous	CHRD	NM_003741.2		490,2266,3704	AA,AC,CC		31.9594,11.685,25.1238		159/956	184099378	3246,9674	2178	4282	6460	SO:0001819	synonymous_variant	8646	exon4			GCCAGGCGCTGAG	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.477C>A	3.37:g.184099378C>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	63	50	0.793651	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	CCDS3266.1																																																																																			C|0.808;A|0.192	0.192	strong		0.697	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184099378	C	A	184099378	2	1	23	1	0	0	0	0	0	0	0	1	3372	755	27	4		4	CHRD	3	184099378	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	438793	184099378	13923052	1070	17526										
EPHB3	2049	hgsc.bcm.edu	37	chr3	184290348	184290348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccatccgcacataccaggtGtgtaatgtgcgcgagtcaag	11	12	1	0	rs9862375	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:184290348G>A	ENST00000330394.2	+	3	692	c.240G>A	c.(238-240)gtG>gtA	p.V80V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	80	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATACCAGGTGTGTAATGTGC	0.547													G|||	288	0.057508	0.0877	0.072	5008	,	,		19487	0.0		0.1074	False		,,,				2504	0.0143				p.V80V		Atlas-SNP	.											.	EPHB3	114	.	0			c.G240A						PASS	.	G		379,4027	189.9+/-215.9	20,339,1844	65	60	62		240	5.5	1	3	dbSNP_119	62	837,7763	191.8+/-238.0	49,739,3512	no	coding-synonymous	EPHB3	NM_004443.3		69,1078,5356	AA,AG,GG		9.7326,8.6019,9.3495		80/999	184290348	1216,11790	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon3			CCAGGTGTGTAAT	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.240G>A	3.37:g.184290348G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	171	85	0.497076	NM_004443	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			G|0.918;A|0.082	0.082	strong		0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184290348	G	A	184290348	2	1	23	1	0	0	0	0	0	0	0	1	5176	1364	48	2		2	EPHB3	3	184290348	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	190970	184290348	13732082	1071	17527										
VPS8	23355	hgsc.bcm.edu	37	chr3	184550501	184550501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgatgaagatgagtcttttAttcttgaggatcctacattg	9	5	2	5	rs9830734	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:184550501A>G	ENST00000437079.3	+	4	418	c.247A>G	c.(247-249)Att>Gtt	p.I83V	VPS8_ENST00000446204.2_Missense_Mutation_p.I83V|VPS8_ENST00000287546.4_Missense_Mutation_p.I83V|VPS8_ENST00000436792.2_Missense_Mutation_p.I83V|VPS8_ENST00000424463.2_Missense_Mutation_p.I83V	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	83			I -> V (in dbSNP:rs9830734). {ECO:0000269|PubMed:17974005}.				zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGTCTTTTATTCTTGAGGA	0.348													G|||	2774	0.553914	0.7103	0.4452	5008	,	,		18685	0.6657		0.3151	False		,,,				2504	0.5501				p.I83V		Atlas-SNP	.											.	VPS8	109	.	0			c.A247G						PASS	.	G	VAL/ILE,VAL/ILE	2431,1327		802,827,250	125	114	117		247,247	3	1	3	dbSNP_119	117	2377,5857		366,1645,2106	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	29,29	1168,2472,2356	GG,GA,AA		28.8681,35.3113,40.0934	benign,benign	83/1429,83/1427	184550501	4808,7184	1879	4117	5996	SO:0001583	missense	23355	exon4			TCTTTTATTCTTG	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.247A>G	3.37:g.184550501A>G	ENSP00000397879:p.Ile83Val	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	267	122	0.456929	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	1121	0.5132783882783882	336	0.6829268292682927	171	0.4723756906077348	365	0.6381118881118881	249	0.32849604221635886	G	1.030	-0.682044	0.03353	0.646887	0.288681	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.7	2.98	0.34508	.	0.257195	0.38959	N	0.001503	T	0.00012	0.0000	N	0.08118	0	0.46376	P	9.829999999999561E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22068	-1.0227	9	0.20519	T	0.43	-3.4649	8.947	0.35764	0.358:0.0:0.642:0.0	rs9830734;rs61289304;rs9830734	83;83;83	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	V	83	ENSP00000287546:I83V;ENSP00000397879:I83V;ENSP00000404704:I83V;ENSP00000405483:I83V;ENSP00000415161:I83V;ENSP00000389480:I83V;ENSP00000409957:I83V;ENSP00000416150:I83V	ENSP00000287546:I83V	I	+	1	0	VPS8	186033195	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	0.871000	0.28023	0.093000	0.17368	-1.861000	0.00560	ATT	A|0.480;G|0.520	0.520	strong		0.348	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		G	184550501	A	G	184550501	3	3	23	1	0	0	0	0	1	0	0	0	17215	449	16	2	257	2	VPS8	3	184550501	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	260153	184550501	13471929	1072	17528										
KNG1	3827	hgsc.bcm.edu	37	chr3	186437944	186437944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgaaatcaaggagggggaTtgtcctgttcaaagtggcaa	13	6	2	0	rs5029980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:186437944T>C	ENST00000265023.4	+	2	458	c.246T>C	c.(244-246)gaT>gaC	p.D82D	KNG1_ENST00000447445.1_Silent_p.D82D|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.D82D	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	82	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.D82D(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AGGAGGGGGATTGTCCTGTTC	0.468													T|||	488	0.0974441	0.0567	0.1455	5008	,	,		17100	0.0595		0.1272	False		,,,				2504	0.1268				p.D82D		Atlas-SNP	.											KNG1_ENST00000265023,NS,carcinoma,0,2	KNG1	129	2	2	Substitution - coding silent(2)	stomach(2)	c.T246C						PASS	.	T	,,	302,4104	165.8+/-197.2	9,284,1910	129	118	122		246,246,246	-3.3	0.1	3	dbSNP_113	122	960,7640	210.0+/-251.0	60,840,3400	no	coding-synonymous,coding-synonymous,coding-synonymous	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,,	69,1124,5310	CC,CT,TT		11.1628,6.8543,9.7032	,,	82/428,82/645,82/392	186437944	1262,11744	2203	4300	6503	SO:0001819	synonymous_variant	3827	exon2			GGGGGATTGTCCT		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.246T>C	3.37:g.186437944T>C		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	159	83	0.522013	NM_000893	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	CCDS43183.1																																																																																			T|0.907;C|0.093	0.093	strong		0.468	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		C	186437944	T	C	186437944	2	2	23	1	0	0	0	0	0	0	0	1	8427	1490	52	2		2	KNG1	3	186437944	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1887443	186437944	11584486	1073	17529										
RFC4	5984	hgsc.bcm.edu	37	chr3	186509517	186509517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatccagtactcttaccccGgcaatgtctgtaatcacttt	5	12	3	0	rs187868	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:186509517G>A	ENST00000392481.2	-	8	1079	c.798C>T	c.(796-798)gcC>gcT	p.A266A	RFC4_ENST00000433496.1_Silent_p.A266A|RFC4_ENST00000296273.2_Silent_p.A266A	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	266					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTCTTACCCCGGCAATGTCTG	0.388													A|||	2423	0.483826	0.4402	0.4942	5008	,	,		17459	0.5		0.494	False		,,,				2504	0.5082				p.A266A		Atlas-SNP	.											RFC4,colon,carcinoma,0,1	RFC4	54	1	0			c.C798T						PASS	.	A	,	2040,2366	609.3+/-391.3	467,1106,630	124	123	123		798,798	4.6	1	3	dbSNP_79	123	4135,4465	588.7+/-392.4	1011,2113,1176	no	coding-synonymous,coding-synonymous	RFC4	NM_002916.3,NM_181573.2	,	1478,3219,1806	AA,AG,GG		48.0814,46.3005,47.4781	,	266/364,266/364	186509517	6175,6831	2203	4300	6503	SO:0001819	synonymous_variant	5984	exon8			TACCCCGGCAATG		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.798C>T	3.37:g.186509517G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	91	48	0.527473	NM_181573	B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	CCDS3283.1																																																																																			G|0.516;A|0.484	0.484	strong		0.388	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		A	186509517	G	A	186509517	2	1	23	1	0	0	0	0	0	0	0	1	13247	1103	39	1		1	RFC4	3	186509517	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	71573	186509517	11512913	1074	17530										
MASP1	5648	hgsc.bcm.edu	37	chr3	186953808	186953808	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgggtaacttgacatactgCaggacatctgacaaggtccg	11	10	1	2	rs850312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:186953808C>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Silent_p.L617L|MASP1_ENST00000392472.2_Silent_p.L504L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.L617L(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACATACTGCAGGACATCTG	0.562													C|||	1061	0.211861	0.0265	0.3473	5008	,	,		21420	0.2034		0.3479	False		,,,				2504	0.2352				p.L617L		Atlas-SNP	.											MASP1_ENST00000296280,NS,carcinoma,0,1	MASP1	240	1	1	Substitution - coding silent(1)	stomach(1)	c.G1851A						PASS	.	C	,	299,4107	164.0+/-195.7	15,269,1919	109	94	99		,1851	-6.7	0.3	3	dbSNP_86	99	2918,5682	456.7+/-364.1	497,1924,1879	no	intron,coding-synonymous	MASP1	NM_001879.5,NM_139125.3	,	512,2193,3798	TT,TC,CC		33.9302,6.7862,24.7347	,	,617/729	186953808	3217,9789	2203	4300	6503	SO:0001627	intron_variant	5648	exon11			ATACTGCAGGACA	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5460G>A	3.37:g.186953808C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	76	41	0.539474	NM_139125	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																			T|0.232;G|0.004	0.232	strong		0.562	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		T	186953808	C	T	186953808	1	4	23	0	1	0	0	0	0	0	0	0	9322	697	25	2		2	MASP1	3	186953808	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	444291	186953808	11068622	1075	17531										
RTP4	64108	hgsc.bcm.edu	37	chr3	187088812	187088812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaatactatggaaatggcaCgaggaagtctccagaaatgc	11	7	1	1	rs3821812	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:187088812C>T	ENST00000259030.2	+	2	502	c.392C>T	c.(391-393)aCg>aTg	p.T131M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	131				T -> M (in Ref. 1; AAT70683, 2; CAC14309 and 4; AAH13161). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGAAATGGCACGAGGAAGTCT	0.493													C|||	1925	0.384385	0.1399	0.4942	5008	,	,		21664	0.7351		0.3469	False		,,,				2504	0.3139				p.T131M		Atlas-SNP	.											.	RTP4	20	.	0			c.C392T						PASS	.	C	MET/THR	912,3494	348.5+/-309.9	94,724,1385	57	57	57		392	-7.4	0	3	dbSNP_107	57	3018,5582	466.6+/-366.8	525,1968,1807	yes	missense	RTP4	NM_022147.2	81	619,2692,3192	TT,TC,CC		35.093,20.699,30.2168	benign	131/247	187088812	3930,9076	2203	4300	6503	SO:0001583	missense	64108	exon2			ATGGCACGAGGAA	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.392C>T	3.37:g.187088812C>T	ENSP00000259030:p.Thr131Met	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	167	76	0.45509	NM_022147	Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	CCDS33910.1	887	0.40613553113553114	80	0.16260162601626016	154	0.425414364640884	393	0.6870629370629371	260	0.34300791556728233	C	1.751	-0.489207	0.04352	0.20699	0.35093	ENSG00000136514	ENST00000259030	T	0.22743	1.94	3.69	-7.38	0.01407	.	3.786760	0.00496	N	0.000148	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.28998	0.23	B	0.20767	0.031	T	0.34254	-0.9836	9	0.31617	T	0.26	4.8248	3.2926	0.06954	0.1014:0.3999:0.2046:0.2941	rs3821812;rs17779027;rs17856419;rs56552616;rs61531890;rs3821812	131	Q96DX8	RTP4_HUMAN	M	131	ENSP00000259030:T131M	ENSP00000259030:T131M	T	+	2	0	RTP4	188571506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.461000	0.02366	-2.845000	0.00333	-1.834000	0.00590	ACG	C|0.657;N|0.000	.	strong		0.493	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		T	187088812	C	T	187088812	3	4	23	1	0	0	0	0	1	0	0	0	13736	536	19	1	398	1	RTP4	3	187088812	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	135004	187088812	10933618	1076	17532										
RTP4	64108	hgsc.bcm.edu	37	chr3	187088903	187088903	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcatgcactttgggcatCtgtggacagggcttaaaaag	14	7	1	0	rs1533595	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:187088903C>A	ENST00000259030.2	+	2	593	c.483C>A	c.(481-483)atC>atA	p.I161I		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	161					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTTTGGGCATCTGTGGACAGG	0.512													C|||	1926	0.384585	0.1407	0.4942	5008	,	,		1612	0.7351		0.3469	False		,,,				2504	0.3139				p.I161I		Atlas-SNP	.											.	RTP4	20	.	0			c.C483A						PASS	.	C		913,3493	349.3+/-310.3	94,725,1384	63	55	58		483	0.2	0	3	dbSNP_88	58	3018,5582	466.0+/-366.7	525,1968,1807	no	coding-synonymous	RTP4	NM_022147.2		619,2693,3191	AA,AC,CC		35.093,20.7217,30.2245		161/247	187088903	3931,9075	2203	4300	6503	SO:0001819	synonymous_variant	64108	exon2			GGGCATCTGTGGA	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.483C>A	3.37:g.187088903C>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	105	47	0.447619	NM_022147	Q9H4F3	Silent	SNP	ENST00000259030.2	37	CCDS33910.1																																																																																			C|0.669;A|0.331	0.331	strong		0.512	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		A	187088903	C	A	187088903	2	1	23	1	0	0	0	0	0	0	0	1	13736	903	32	4		4	RTP4	3	187088903	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	91	187088903	10933527	1077	17533										
RTP4	64108	hgsc.bcm.edu	37	chr3	187089031	187089031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagccaagaaccagtcagCtgaggcaaaagaggctaagg	12	10	1	3	rs1003995|rs3926263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:187089031C>A	ENST00000259030.2	+	2	721	c.611C>A	c.(610-612)gCt>gAt	p.A204D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	204				A -> D (in Ref. 1; AAT70683, 2; CAC14309 and 4; AAH13161). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AACCAGTCAGCTGAGGCAAAA	0.493													C|||	1442	0.287939	0.0348	0.4524	5008	,	,		19751	0.4504		0.3419	False		,,,				2504	0.2904				p.A204D		Atlas-SNP	.											.	RTP4	20	.	0			c.C611A						PASS	.	C	ASP/ALA	449,3957	215.1+/-234.2	22,405,1776	85	69	74		611	0.7	0	3	dbSNP_86	74	2973,5627	462.3+/-365.7	509,1955,1836	yes	missense	RTP4	NM_022147.2	126	531,2360,3612	AA,AC,CC		34.5698,10.1906,26.3109	possibly-damaging	204/247	187089031	3422,9584	2203	4300	6503	SO:0001583	missense	64108	exon2			AGTCAGCTGAGGC	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.611C>A	3.37:g.187089031C>A	ENSP00000259030:p.Ala204Asp	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	30	13	0.433333	NM_022147	Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	CCDS33910.1	684	0.3131868131868132	29	0.05894308943089431	145	0.4005524861878453	252	0.4405594405594406	258	0.3403693931398417	C	11.95	1.790253	0.31685	0.101906	0.345698	ENSG00000136514	ENST00000259030	T	0.19806	2.12	2.56	0.673	0.17941	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.40476	0.718	B	0.36244	0.22	T	0.45702	-0.9243	8	0.28530	T	0.3	1.011	3.5252	0.07757	0.0:0.5711:0.2697:0.1592	rs3926263;rs3926264	204	Q96DX8	RTP4_HUMAN	D	204	ENSP00000259030:A204D	ENSP00000259030:A204D	A	+	2	0	RTP4	188571725	0.002000	0.14202	0.000000	0.03702	0.021000	0.10359	0.841000	0.27613	0.154000	0.19237	0.655000	0.94253	GCT	C|0.721;A|0.278	0.278	strong		0.493	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		A	187089031	C	A	187089031	3	1	23	1	0	0	0	0	1	0	0	0	13736	797	28	4	617	4	RTP4	3	187089031	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	128	187089031	10933399	1078	17534										
RTP2	344892	hgsc.bcm.edu	37	chr3	187419816	187419816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagctcactgggcttgaggTtggggtctatgatgagctcc	14	10	2	3	rs61754877	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:187419816T>C	ENST00000358241.1	-	1	529	c.101A>G	c.(100-102)aAc>aGc	p.N34S	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	34					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GGGCTTGAGGTTGGGGTCTAT	0.577													T|||	852	0.170128	0.1581	0.1009	5008	,	,		17659	0.1409		0.1938	False		,,,				2504	0.2413				p.N34S		Atlas-SNP	.											.	RTP2	38	.	0			c.A101G						PASS	.	T	SER/ASN	664,3742	284.6+/-277.7	49,566,1588	131	135	133		101	0.8	1	3	dbSNP_129	133	1679,6921	309.0+/-309.2	139,1401,2760	yes	missense	RTP2	NM_001004312.2	46	188,1967,4348	CC,CT,TT		19.5233,15.0704,18.0148	benign	34/226	187419816	2343,10663	2203	4300	6503	SO:0001583	missense	344892	exon1			TTGAGGTTGGGGT	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.101A>G	3.37:g.187419816T>C	ENSP00000350976:p.Asn34Ser	Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	264	124	0.469697	NM_001004312	Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	CCDS33911.1	326	0.14926739926739926	73	0.1483739837398374	37	0.10220994475138122	61	0.10664335664335664	155	0.20448548812664907	T	11.49	1.654110	0.29425	0.150704	0.195233	ENSG00000198471	ENST00000358241	T	0.15952	2.38	4.61	0.746	0.18365	.	0.523691	0.21799	N	0.068950	T	0.00012	0.0000	L	0.28504	0.86	0.45261	P	0.001731000000000038	B	0.06786	0.001	B	0.11329	0.006	T	0.36383	-0.9750	9	0.33940	T	0.23	-29.0332	4.2053	0.10486	0.0:0.1865:0.1736:0.6399	rs61754877	34	Q5QGT7	RTP2_HUMAN	S	34	ENSP00000350976:N34S	ENSP00000350976:N34S	N	-	2	0	RTP2	188902510	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.691000	0.25467	0.126000	0.18424	0.528000	0.53228	AAC	T|0.832;C|0.168	0.168	strong		0.577	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		C	187419816	T	C	187419816	3	2	23	1	0	0	0	0	1	0	0	0	13734	1725	60	2	584	2	RTP2	3	187419816	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	330785	187419816	10602614	1079	17535										
IL1RAP	3556	hgsc.bcm.edu	37	chr3	190363594	190363594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaatgaatttggatacaaGctgtgcatctttgaccgaga	11	6	1	4	rs34879831	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:190363594G>A	ENST00000412504.2	+	10	1560	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	IL1RAP_ENST00000072516.3_Silent_p.K436K|IL1RAP_ENST00000439062.1_Silent_p.K436K|IL1RAP_ENST00000443369.2_Silent_p.K436K|IL1RAP_ENST00000447382.1_Silent_p.K436K|IL1RAP_ENST00000317757.3_Silent_p.K436K			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	436	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TTGGATACAAGCTGTGCATCT	0.408													G|||	817	0.163139	0.3109	0.111	5008	,	,		19560	0.0179		0.1541	False		,,,				2504	0.1595				p.K436K		Atlas-SNP	.											.	IL1RAP	96	.	0			c.G1308A						PASS	.	G	,,,	1217,3189	423.0+/-339.9	158,901,1144	99	94	96		1308,1308,1308,1308	4.8	1	3	dbSNP_126	96	1390,7210	269.7+/-288.6	115,1160,3025	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167931.1,NM_002182.3	,,,	273,2061,4169	AA,AG,GG		16.1628,27.6214,20.0446	,,,	436/571,436/571,436/688,436/571	190363594	2607,10399	2203	4300	6503	SO:0001819	synonymous_variant	3556	exon10			ATACAAGCTGTGC	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1308G>A	3.37:g.190363594G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	149	73	0.489933	NM_001167929	B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	ENST00000412504.2	37	CCDS3298.1																																																																																			G|0.811;A|0.189	0.189	strong		0.408	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			A	190363594	G	A	190363594	2	1	23	1	0	0	0	0	0	0	0	1	7660	962	34	2		2	IL1RAP	3	190363594	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2943778	190363594	7658836	1080	17536										
ATP13A5	344905	hgsc.bcm.edu	37	chr3	193052769	193052769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcccagagggcttgacctGgataacttctgttccacaga	10	12	1	3	rs74437357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:193052769G>A	ENST00000342358.4	-	10	1180	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	355						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCTTGACCTGGATAACTTCT	0.458													g|||	48	0.00958466	0.0008	0.0072	5008	,	,		18680	0.0		0.0328	False		,,,				2504	0.0092				p.Q355X		Atlas-SNP	.											.	ATP13A5	171	.	0			c.C1063T						PASS	.	G	stop/GLN	24,4382	32.6+/-62.9	0,24,2179	130	128	129		1063	5.9	1	3	dbSNP_131	129	256,8344	99.5+/-161.0	5,246,4049	yes	stop-gained	ATP13A5	NM_198505.2		5,270,6228	AA,AG,GG		2.9767,0.5447,2.1529		355/1219	193052769	280,12726	2203	4300	6503	SO:0001587	stop_gained	344905	exon10			TGACCTGGATAAC	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1063C>T	3.37:g.193052769G>A	ENSP00000341942:p.Gln355*	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	149	78	0.52349	NM_198505	Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	31	0.014194139194139194	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	27	0.03562005277044855	g	39	7.502010	0.98322	0.005447	0.029767	ENSG00000187527	ENST00000342358	.	.	.	5.87	5.87	0.94306	.	0.423339	0.22770	N	0.055850	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.2837	18.7725	0.91898	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000341942:Q355X	Q	-	1	0	ATP13A5	194535463	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.518000	0.98022	2.791000	0.96007	0.655000	0.94253	CAG	G|0.979;A|0.021	0.021	strong		0.458	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		A	193052769	G	A	193052769	4	1	23	1	0	0	0	0	0	1	0	0	1127	1357	47	2	2675	2	ATP13A5	3	193052769	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2689175	193052769	4969661	1081	17537										
ATP13A5	344905	hgsc.bcm.edu	37	chr3	193080414	193080414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacctgattttctgcacttCcatgcaccgcagctacgatt	6	13	1	1	rs6797429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:193080414C>G	ENST00000342358.4	-	4	514	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	133			E -> Q (in dbSNP:rs6797429).			integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTGCACTTCCATGCACCGC	0.483													G|||	2573	0.513778	0.646	0.5259	5008	,	,		21621	0.3859		0.5288	False		,,,				2504	0.4427				p.E133Q		Atlas-SNP	.											.	ATP13A5	171	.	0			c.G397C						PASS	.	G	GLN/GLU	2716,1690	513.1+/-368.2	845,1026,332	142	137	138		397	5.6	0.8	3	dbSNP_116	138	4451,4149	566.6+/-388.7	1179,2093,1028	yes	missense	ATP13A5	NM_198505.2	29	2024,3119,1360	GG,GC,CC		48.2442,38.3568,44.8947	benign	133/1219	193080414	7167,5839	2203	4300	6503	SO:0001583	missense	344905	exon4			GCACTTCCATGCA	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.397G>C	3.37:g.193080414C>G	ENSP00000341942:p.Glu133Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	155	78	0.503226	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	1159	0.5306776556776557	317	0.6443089430894309	202	0.5580110497237569	233	0.40734265734265734	407	0.5369393139841688	G	0.411	-0.913282	0.02415	0.616432	0.517558	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.26223	1.75;1.75	5.6	5.6	0.85130	.	0.268854	0.32548	N	0.005941	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31392	-0.9945	9	0.09590	T	0.72	-2.1229	13.3521	0.60607	0.0:0.3026:0.6974:0.0	rs6797429;rs59343082;rs6797429	133	Q4VNC0	AT135_HUMAN	Q	133;155	ENSP00000341942:E133Q;ENSP00000389416:E155Q	ENSP00000341942:E133Q	E	-	1	0	ATP13A5	194563108	1.000000	0.71417	0.815000	0.32552	0.069000	0.16628	2.617000	0.46385	1.534000	0.49203	-0.120000	0.15030	GAA	C|0.453;G|0.547	0.547	strong		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		G	193080414	C	G	193080414	3	3	23	1	0	0	0	0	1	0	0	0	1127	864	30	4	3365	4	ATP13A5	3	193080414	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27645	193080414	4942016	1082	17538										
LRRC15	131578	hgsc.bcm.edu	37	chr3	194080696	194080696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggccaacatgcggaagacGttcccgtccaggtcctgcag	12	13	0	1	rs9682541	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:194080696G>A	ENST00000347624.3	-	2	1162	c.1077C>T	c.(1075-1077)aaC>aaT	p.N359N	LRRC15_ENST00000439944.2_Silent_p.N365N|LRRC15_ENST00000428839.1_Silent_p.N365N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	359					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGCGGAAGACGTTCCCGTCCA	0.587													A|||	582	0.116214	0.093	0.1052	5008	,	,		19476	0.0685		0.2107	False		,,,				2504	0.1074				p.N365N		Atlas-SNP	.											.	LRRC15	137	.	0			c.C1095T						PASS	.	A	,	432,3974	786.5+/-414.8	16,400,1787	67	64	65		1095,1077	-9.8	0	3	dbSNP_119	65	2013,6587	721.4+/-406.4	240,1533,2527	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	256,1933,4314	AA,AG,GG		23.407,9.8048,18.799	,	365/588,359/582	194080696	2445,10561	2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			GAAGACGTTCCCG	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1077C>T	3.37:g.194080696G>A		Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	241	131	0.543568	NM_001135057	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			G|0.844;A|0.156	0.156	strong		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194080696	G	A	194080696	2	1	23	1	0	0	0	0	0	0	0	1	8970	1136	40	1		1	LRRC15	3	194080696	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1000282	194080696	3941734	1083	17539										
LRRC15	131578	hgsc.bcm.edu	37	chr3	194081179	194081179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagccggaggacctggagGttgcccaggtgctggaagac	16	10	0	1	rs11715737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:194081179G>A	ENST00000347624.3	-	2	679	c.594C>T	c.(592-594)aaC>aaT	p.N198N	LRRC15_ENST00000439944.2_Silent_p.N204N|LRRC15_ENST00000428839.1_Silent_p.N204N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	198					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGACCTGGAGGTTGCCCAGGT	0.572													G|||	584	0.116613	0.093	0.1052	5008	,	,		19872	0.0685		0.2107	False		,,,				2504	0.1094				p.N204N		Atlas-SNP	.											.	LRRC15	137	.	0			c.C612T						PASS	.	G	,	432,3974	208.5+/-229.5	16,400,1787	177	178	178		612,594	4.1	1	3	dbSNP_120	178	2013,6587	352.5+/-328.7	240,1533,2527	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	256,1933,4314	AA,AG,GG		23.407,9.8048,18.799	,	204/588,198/582	194081179	2445,10561	2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			CTGGAGGTTGCCC	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.594C>T	3.37:g.194081179G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	114	67	0.587719	NM_001135057	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			G|0.830;A|0.170	0.170	strong		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194081179	G	A	194081179	2	1	23	1	0	0	0	0	0	0	0	1	8970	1252	44	2		2	LRRC15	3	194081179	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	483	194081179	3941251	1084	17540										
TMEM44	93109	hgsc.bcm.edu	37	chr3	194353875	194353875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggagatgcagacgcggtGgcgggcgaagcagcggtcca	19	9	0	2	rs1675955	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:194353875G>T	ENST00000392432.2	-	1	275	c.70C>A	c.(70-72)Cac>Aac	p.H24N	TMEM44_ENST00000273580.7_Missense_Mutation_p.H24N|TMEM44_ENST00000347147.4_Missense_Mutation_p.H24N|TMEM44_ENST00000381975.3_Missense_Mutation_p.H24N|TMEM44_ENST00000473092.1_Missense_Mutation_p.H24N|AC046143.3_ENST00000447139.1_RNA|TMEM44_ENST00000330115.3_Intron	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	24			H -> N (in dbSNP:rs1675955). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CAGACGCGGTGGCGGGCGAAG	0.771													G|||	1821	0.363618	0.3722	0.3127	5008	,	,		8730	0.2619		0.4771	False		,,,				2504	0.3763				p.H24N		Atlas-SNP	.											.	TMEM44	42	.	0			c.C70A						PASS	.	G	ASN/HIS,ASN/HIS,ASN/HIS,ASN/HIS	1585,2533		359,867,833	16	17	17		70,70,70,70	2.8	1	3	dbSNP_89	17	3754,4378		957,1840,1269	yes	missense,missense,missense,missense	TMEM44	NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4	68,68,68,68	1316,2707,2102	TT,TG,GG		46.1633,38.4896,43.5837	benign,benign,benign,benign	24/429,24/476,24/397,24/439	194353875	5339,6911	2059	4066	6125	SO:0001583	missense	93109	exon1			CGCGGTGGCGGGC	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.70C>A	3.37:g.194353875G>T	ENSP00000376227:p.His24Asn	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	106	55	0.518868	NM_138399	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	774	0.3543956043956044	175	0.3556910569105691	105	0.2900552486187845	134	0.23426573426573427	360	0.47493403693931396	G	17.20	3.328680	0.60743	0.384896	0.461633	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000347147;ENST00000381975;ENST00000473092	T;T;T;T;T	0.29397	1.98;1.59;1.59;1.57;1.59	3.74	2.81	0.32909	.	0.381317	0.19732	N	0.107322	T	0.00012	0.0000	L	0.51422	1.61	0.45284	P	0.0017200000000000548	B;P;B;B;B	0.41848	0.187;0.763;0.341;0.187;0.187	B;B;B;B;B	0.42282	0.073;0.382;0.08;0.107;0.051	T	0.48293	-0.9048	9	0.17832	T	0.49	-7.5477	8.235	0.31620	0.0:0.2725:0.7275:0.0	rs1675955;rs59796673;rs1675955	24;24;24;24;24	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	N	24	ENSP00000376227:H24N;ENSP00000273580:H24N;ENSP00000333355:H24N;ENSP00000371402:H24N;ENSP00000418674:H24N	ENSP00000273580:H24N	H	-	1	0	TMEM44	195835164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.517000	0.45529	1.918000	0.55548	0.467000	0.42956	CAC	G|0.652;T|0.348	0.348	strong		0.771	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		T	194353875	G	T	194353875	3	4	23	1	0	0	0	0	1	0	0	0	16165	1348	47	4	1435	4	TMEM44	3	194353875	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	272696	194353875	3668555	1085	17541										
LSG1	55341	hgsc.bcm.edu	37	chr3	194387253	194387253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggctctcctcgaaagacAgtagtccagttctagcctca	8	13	4	1	rs34423045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:194387253A>G	ENST00000265245.5	-	3	589	c.275T>C	c.(274-276)cTg>cCg	p.L92P	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	92			L -> P (in dbSNP:rs34423045).		GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTCGAAAGACAGTAGTCCAGT	0.383													A|||	408	0.0814696	0.0938	0.0965	5008	,	,		17073	0.0734		0.0507	False		,,,				2504	0.0941				p.L92P		Atlas-SNP	.											.	LSG1	38	.	0			c.T275C						PASS	.	A	PRO/LEU	338,4068	179.0+/-207.6	14,310,1879	88	89	89		275	3	0.6	3	dbSNP_126	89	411,8189	128.7+/-186.9	10,391,3899	yes	missense	LSG1	NM_018385.2	98	24,701,5778	GG,GA,AA		4.7791,7.6714,5.7589	benign	92/659	194387253	749,12257	2203	4300	6503	SO:0001583	missense	55341	exon3			AAAGACAGTAGTC		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.275T>C	3.37:g.194387253A>G	ENSP00000265245:p.Leu92Pro	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	146	75	0.513699	NM_018385	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	CCDS33922.1	157	0.07188644688644688	45	0.09146341463414634	33	0.09116022099447514	41	0.07167832167832168	38	0.05013192612137203	A	8.622	0.891674	0.17613	0.076714	0.047791	ENSG00000041802	ENST00000265245	D	0.85484	-1.99	5.34	2.97	0.34412	.	0.226280	0.36303	N	0.002679	T	0.19406	0.0466	M	0.64630	1.985	0.27522	P	0.9513762	P	0.43024	0.798	P	0.44518	0.452	T	0.64879	-0.6303	9	0.48119	T	0.1	.	8.5746	0.33590	0.8397:0.0:0.1603:0.0	rs34423045	92	Q9H089	LSG1_HUMAN	P	92	ENSP00000265245:L92P	ENSP00000265245:L92P	L	-	2	0	LSG1	195868542	0.998000	0.40836	0.635000	0.29338	0.268000	0.26511	6.510000	0.73729	0.363000	0.24346	0.533000	0.62120	CTG	A|0.940;G|0.060	0.060	strong		0.383	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		G	194387253	A	G	194387253	3	3	23	1	0	0	0	0	1	0	0	0	9049	188	7	3	1749	3	LSG1	3	194387253	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	33378	194387253	3635177	1086	17542										
LSG1	55341	hgsc.bcm.edu	37	chr3	194387300	194387300	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaaacttaatattaagtttCtctgttcaaataaagaaaag	4	5	2	1	rs1675943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:194387300C>T	ENST00000265245.5	-	3	542	c.228G>A	c.(226-228)gaG>gaA	p.E76E	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	76					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TATTAAGTTTCTCTGTTCAAA	0.358													C|||	2129	0.42512	0.2587	0.4481	5008	,	,		17143	0.4405		0.5348	False		,,,				2504	0.5051				p.E76E		Atlas-SNP	.											.	LSG1	38	.	0			c.G228A						PASS	.	C		1332,3074	415.2+/-337.1	212,908,1083	54	55	54		228	3.5	1	3	dbSNP_89	54	4540,4060	571.5+/-389.6	1223,2094,983	yes	coding-synonymous-near-splice	LSG1	NM_018385.2		1435,3002,2066	TT,TC,CC		47.2093,30.2315,45.1484		76/659	194387300	5872,7134	2203	4300	6503	SO:0001630	splice_region_variant	55341	exon3			AAGTTTCTCTGTT		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.227-1G>A	3.37:g.194387300C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	33	0.492537	NM_018385	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	CCDS33922.1																																																																																			C|0.573;T|0.427	0.427	strong		0.358	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385	Silent	T	194387300	C	T	194387300	5	4	23	1	0	0	0	0	0	0	1	0	9049	927	32	2	1796	2	LSG1	3	194387300	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47	194387300	3635130	1087	17543										
APOD	347	hgsc.bcm.edu	37	chr3	195306289	195306289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtccctctgccgcaccgAagaggccagccagtgcggaa	12	15	1	1	rs5952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:195306289A>G	ENST00000343267.3	-	2	405	c.44T>C	c.(43-45)tTc>tCc	p.F15S		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	15			F -> S (in dbSNP:rs5952). {ECO:0000269|PubMed:10391209}.		aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGCCGCACCGAAGAGGCCAGC	0.582													A|||	7	0.00139776	0.0	0.0043	5008	,	,		18597	0.0		0.004	False		,,,				2504	0.0				p.F15S		Atlas-SNP	.											.	APOD	28	.	0			c.T44C						PASS	.	A	SER/PHE	6,4400	9.9+/-24.2	0,6,2197	41	44	43		44	1.6	0	3	dbSNP_52	43	54,8546	30.1+/-81.4	0,54,4246	yes	missense	APOD	NM_001647.3	155	0,60,6443	GG,GA,AA		0.6279,0.1362,0.4613	benign	15/190	195306289	60,12946	2203	4300	6503	SO:0001583	missense	347	exon2			GCACCGAAGAGGC		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.44T>C	3.37:g.195306289A>G	ENSP00000345179:p.Phe15Ser	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	53	24	0.45283	NM_001647	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	CCDS33925.1	7	0.003205128205128205	0	0.0	3	0.008287292817679558	0	0.0	4	0.005277044854881266	A	12.13	1.844610	0.32606	0.001362	0.006279	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.21031	2.03;2.03;2.03	5.68	1.61	0.23674	Calycin (1);	0.701798	0.13384	N	0.391946	T	0.11196	0.0273	L	0.38175	1.15	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.19976	-1.0289	10	0.62326	D	0.03	-0.2464	7.3764	0.26831	0.7035:0.0:0.2965:0.0	rs5952	15;15	B4DGC3;P05090	.;APOD_HUMAN	S	15;43;15	ENSP00000345179:F15S;ENSP00000415235:F43S;ENSP00000393076:F15S	ENSP00000345179:F15S	F	-	2	0	APOD	196787578	0.127000	0.22367	0.000000	0.03702	0.009000	0.06853	1.338000	0.33873	0.434000	0.26340	0.533000	0.62120	TTC	A|0.996;G|0.004	0.004	strong		0.582	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		G	195306289	A	G	195306289	3	3	23	1	0	0	0	0	1	0	0	0	801	246	9	2	541	2	APOD	3	195306289	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	918989	195306289	2716141	1088	17544										
ZDHHC19	131540	hgsc.bcm.edu	37	chr3	195938177	195938177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcggcgtggcatccgttaAgagtgtcatggctgggcctc	15	11	1	1	rs1522394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:195938177A>G	ENST00000296326.3	-	1	89	c.10T>C	c.(10-12)Tta>Cta	p.L4L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	4						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCATCCGTTAAGAGTGTCATG	0.647													A|||	1350	0.269569	0.0537	0.3098	5008	,	,		16359	0.5248		0.2704	False		,,,				2504	0.2689				p.L4L		Atlas-SNP	.											.	ZDHHC19	25	.	0			c.T10C						PASS	.	A		357,3821		19,319,1751	96	121	113		10	-6.1	0	3	dbSNP_88	113	2005,6435		224,1557,2439	no	coding-synonymous	ZDHHC19	NM_001039617.1		243,1876,4190	GG,GA,AA		23.7559,8.5448,18.7193		4/310	195938177	2362,10256	2089	4220	6309	SO:0001819	synonymous_variant	131540	exon1			CCGTTAAGAGTGT	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.10T>C	3.37:g.195938177A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	40	0.425532	NM_001039617	A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	CCDS43190.1																																																																																			A|0.742;G|0.258	0.258	strong		0.647	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		G	195938177	A	G	195938177	2	3	23	1	0	0	0	0	0	0	0	1	17606	69	3	3		3	ZDHHC19	3	195938177	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	631888	195938177	2084253	1089	17545										
PAK2	5062	hgsc.bcm.edu	37	chr3	196529917	196529917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacagtgggctcgattactAcagacctccaatatcaccaa	7	12	1	1	rs183020057	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:196529917A>G	ENST00000327134.3	+	4	640	c.318A>G	c.(316-318)ctA>ctG	p.L106L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	106	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTCGATTACTACAGACCTCCA	0.378													A|||	5	0.000998403	0.0008	0.0	5008	,	,		19631	0.001		0.001	False		,,,				2504	0.002				p.L106L		Atlas-SNP	.											.	PAK2	113	.	0			c.A318G						PASS	.						93	81	85					3																	196529917		2203	4300	6503	SO:0001819	synonymous_variant	5062	exon4			ATTACTACAGACC	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.318A>G	3.37:g.196529917A>G		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	214	10	0.046729	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																			A|1.000;G|0.000	0.000	strong		0.378	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196529917	A	G	196529917	2	3	23	1	0	0	0	0	0	0	0	1	11401	378	14	2		2	PAK2	3	196529917	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	591740	196529917	1492513	1090	17546										
MFI2	4241	hgsc.bcm.edu	37	chr3	196742290	196742290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgacacgcactggatctcTggcttgagccgctgccggcg	14	14	1	2	rs9855410	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:196742290T>C	ENST00000296350.5	-	9	1292	c.1179A>G	c.(1177-1179)ccA>ccG	p.P393P		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	393	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACTGGATCTCTGGCTTGAGCC	0.672													t|||	1389	0.277356	0.3956	0.1931	5008	,	,		17562	0.2827		0.2217	False		,,,				2504	0.229				p.P393P		Atlas-SNP	.											.	MFI2	88	.	0			c.A1179G						PASS	.	C		1625,2775		299,1027,874	33	27	29		1179	-11.4	0	3	dbSNP_119	29	1892,6706		218,1456,2625	no	coding-synonymous	MFI2	NM_005929.5		517,2483,3499	CC,CT,TT		22.0051,36.9318,27.058		393/739	196742290	3517,9481	2200	4299	6499	SO:0001819	synonymous_variant	4241	exon9			GATCTCTGGCTTG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1179A>G	3.37:g.196742290T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	140	65	0.464286	NM_005929	Q9BQE2	Silent	SNP	ENST00000296350.5	37	CCDS3325.1																																																																																			T|0.712;C|0.288	0.288	strong		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			C	196742290	T	C	196742290	2	2	23	1	0	0	0	0	0	0	0	1	9522	1567	55	3		3	MFI2	3	196742290	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	212373	196742290	1280140	1091	17547										
MFI2	4241	hgsc.bcm.edu	37	chr3	196743130	196743130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccacgcctcataggtctgTgtggcgatgggcacaagctc	13	12	2	0	rs6779362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:196743130T>C	ENST00000296350.5	-	8	1124	c.1011A>G	c.(1009-1011)acA>acG	p.T337T		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	337	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.T337T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CATAGGTCTGTGTGGCGATGG	0.592													C|||	1598	0.319089	0.4743	0.2046	5008	,	,		20505	0.2976		0.2455	False		,,,				2504	0.2883				p.T337T		Atlas-SNP	.											MFI2,NS,carcinoma,0,1	MFI2	88	1	1	Substitution - coding silent(1)	prostate(1)	c.A1011G						scavenged	.	C		1920,2486	626.5+/-394.7	422,1076,705	99	90	93		1011	-9.7	0.4	3	dbSNP_116	93	2006,6594	721.7+/-406.4	243,1520,2537	no	coding-synonymous	MFI2	NM_005929.5		665,2596,3242	CC,CT,TT		23.3256,43.5769,30.1861		337/739	196743130	3926,9080	2203	4300	6503	SO:0001819	synonymous_variant	4241	exon8			GGTCTGTGTGGCG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1011A>G	3.37:g.196743130T>C		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	111	47	0.423423	NM_005929	Q9BQE2	Silent	SNP	ENST00000296350.5	37	CCDS3325.1																																																																																			T|0.686;C|0.314	0.314	strong		0.592	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			C	196743130	T	C	196743130	2	2	23	1	0	0	0	0	0	0	0	1	9522	1683	59	2		2	MFI2	3	196743130	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	840	196743130	1279300	1092	17548										
MFI2	4241	hgsc.bcm.edu	37	chr3	196746629	196746629	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgcagggcactcgccttcTtcctcctcagatctggtcca	9	15	3	1	rs1056664	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:196746629T>C	ENST00000296350.5	-	6	826				MFI2_ENST00000296351.4_Silent_p.E252E	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5						cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACTCGCCTTCTTCCTCCTCAG	0.488													C|||	1334	0.266374	0.2844	0.3444	5008	,	,		20384	0.2847		0.2266	False		,,,				2504	0.2086				p.E252E		Atlas-SNP	.											.	MFI2	88	.	0			c.A756G						PASS	.	C	,	1202,3204	708.8+/-407.7	167,868,1168	112	87	96		,756	-2.4	0	3	dbSNP_86	96	1912,6688	726.6+/-406.6	216,1480,2604	no	intron,coding-synonymous	MFI2	NM_005929.5,NM_033316.3	,	383,2348,3772	CC,CT,TT		22.2326,27.281,23.9428	,	,252/303	196746629	3114,9892	2203	4300	6503	SO:0001627	intron_variant	4241	exon7			GCCTTCTTCCTCC		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.712+1645A>G	3.37:g.196746629T>C		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	153	76	0.496732	NM_033316	Q9BQE2	Silent	SNP	ENST00000296350.5	37	CCDS3325.1																																																																																			T|0.742;C|0.258	0.258	strong		0.488	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			C	196746629	T	C	196746629	1	2	23	0	1	0	0	0	0	0	0	0	9522	1606	56	3		3	MFI2	3	196746629	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3499	196746629	1275801	1093	17549										
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197401952	197401952	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgggctcctcctcgtagtcTgacaggtaagactccaggct	12	13	1	2	rs28562770	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:197401952T>C	ENST00000296343.5	-	20	2855	c.2856A>G	c.(2854-2856)tcA>tcG	p.S952S	MIR922_ENST00000401223.1_RNA|KIAA0226_ENST00000273582.5_Silent_p.S907S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	952					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTCGTAGTCTGACAGGTAAG	0.677													C|||	1182	0.236022	0.6475	0.0865	5008	,	,		10006	0.0327		0.1173	False		,,,				2504	0.1176				p.S952S	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.A2856G						PASS	.	C	,	2052,1830		540,972,429	31	38	36		2721,2856	-5.3	1	3	dbSNP_125	36	839,7391		46,747,3322	no	coding-synonymous,coding-synonymous	KIAA0226	NM_001145642.2,NM_014687.1	,	586,1719,3751	CC,CT,TT		10.1944,47.1406,23.8689	,	907/928,952/973	197401952	2891,9221	1941	4115	6056	SO:0001819	synonymous_variant	9711	exon20			GTAGTCTGACAGG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2856A>G	3.37:g.197401952T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	83	32	0.385542	NM_014687	Q96CK5	Silent	SNP	ENST00000296343.5	37	CCDS43195.1	464	0.21245421245421245	321	0.6524390243902439	32	0.08839779005524862	24	0.04195804195804196	87	0.11477572559366754	C	5.623	0.299568	0.10622	0.528594	0.101944	ENSG00000145016	ENST00000413360	.	.	.	5.62	-5.35	0.02697	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999889359	.	.	.	.	.	.	T	0.45175	-0.9279	3	.	.	.	.	1.0963	0.01674	0.169:0.2562:0.2651:0.3097	rs28562770	.	.	.	G	914	.	.	R	-	1	2	KIAA0226	198886349	0.000000	0.05858	0.967000	0.41034	0.377000	0.30045	-7.278000	0.00040	-0.833000	0.04245	-2.378000	0.00233	AGA	T|0.811;C|0.189	0.189	strong		0.677	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		C	197401952	T	C	197401952	2	2	23	1	0	0	0	0	0	0	0	1	8162	1567	55	3		3	KIAA0226	3	197401952	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	655323	197401952	620478	1094	17550										
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197408085	197408085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggatcattccagatcttaAtgagcaggtccttggagaag	12	7	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:197408085A>C	ENST00000296343.5	-	16	2344	c.2345T>G	c.(2344-2346)aTt>aGt	p.I782S	KIAA0226_ENST00000389665.5_Missense_Mutation_p.I807S|KIAA0226_ENST00000273582.5_Missense_Mutation_p.I737S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	782					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCAGATCTTAATGAGCAGGTC	0.517																																					p.I782S	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.T2345G						PASS	.						149	144	145					3																	197408085		2034	4226	6260	SO:0001583	missense	9711	exon16			ATCTTAATGAGCA	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2345T>G	3.37:g.197408085A>C	ENSP00000296343:p.Ile782Ser	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	156	75	0.480769	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	1.156|1.156|1.156	-0.645279|-0.645279|-0.645279	0.03531|0.03531|0.03531	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	.|.|.	.|.|.	.|.|.	4.55|4.55|4.55	0.842|0.842|0.842	0.18927|0.18927|0.18927	.|.|.	.|0.449024|.	.|0.23137|.	.|N|.	.|0.051520|.	T|T|T	0.07052|0.07052|0.07052	0.0179|0.0179|0.0179	N|N|N	0.00413|0.00413|0.00413	-1.525|-1.525|-1.525	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|.	.|0.06786|.	.|0.001;0.0;0.001|.	.|B;B;B|.	.|0.10450|.	.|0.003;0.0;0.005|.	T|T|T	0.39035|0.39035|0.39035	-0.9633|-0.9633|-0.9633	5|9|5	.|0.07990|.	.|T|.	.|0.79|.	.|.|.	5.7617|5.7617|5.7617	0.18203|0.18203|0.18203	0.394:0.4484:0.1575:0.0|0.394:0.4484:0.1575:0.0|0.394:0.4484:0.1575:0.0	.|.|.	.|807;737;782|.	.|Q92622-3;Q92622-2;Q92622|.	.|.;.;RUBIC_HUMAN|.	Q|S|V	743|737;782;807|566	.|.|.	.|ENSP00000273582:I737S|.	H|I|L	-|-|-	3|2|1	2|0|2	KIAA0226|KIAA0226|KIAA0226	198892482|198892482|198892482	0.950000|0.950000|0.950000	0.32346|0.32346|0.32346	0.220000|0.220000|0.220000	0.23810|0.23810|0.23810	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	1.068000|1.068000|1.068000	0.30629|0.30629|0.30629	0.353000|0.353000|0.353000	0.24079|0.24079|0.24079	0.454000|0.454000|0.454000	0.30748|0.30748|0.30748	CAT|ATT|TTA	.	.	none		0.517	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		C	197408085	A	C	197408085	3	2	23	1	0	0	0	0	1	0	0	0	8162	101	4	5	593	5	KIAA0226	3	197408085	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6133	197408085	614345	1095	17551										
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197427557	197427557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctttgccccactggtgacAgtgagtgtctgcccctctga	10	13	3	3	rs28394098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:197427557A>G	ENST00000296343.5	-	7	1187	c.1188T>C	c.(1186-1188)acT>acC	p.T396T	KIAA0226_ENST00000389665.5_Silent_p.T396T|KIAA0226_ENST00000449205.1_Silent_p.T396T|KIAA0226_ENST00000273582.5_Silent_p.T336T|KIAA0226_ENST00000467303.1_5'Flank	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	396	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CACTGGTGACAGTGAGTGTCT	0.577													G|||	697	0.139177	0.3169	0.0677	5008	,	,		17652	0.0308		0.1034	False		,,,				2504	0.0982				p.T396T	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.T1188C						PASS	.	G	,	1134,2944		137,860,1042	77	80	79		1008,1188	-2.2	0	3	dbSNP_125	79	789,7585		38,713,3436	no	coding-synonymous,coding-synonymous	KIAA0226	NM_001145642.2,NM_014687.1	,	175,1573,4478	GG,GA,AA		9.422,27.8077,15.4433	,	336/928,396/973	197427557	1923,10529	2039	4187	6226	SO:0001819	synonymous_variant	9711	exon7			GGTGACAGTGAGT	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1188T>C	3.37:g.197427557A>G		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	180	76	0.422222	NM_014687	Q96CK5	Silent	SNP	ENST00000296343.5	37	CCDS43195.1	271|271	0.12408424908424909|0.12408424908424909	142|142	0.2886178861788618|0.2886178861788618	27|27	0.07458563535911603|0.07458563535911603	24|24	0.04195804195804196|0.04195804195804196	78|78	0.10290237467018469|0.10290237467018469	G|G	6.290|6.290	0.421625|0.421625	0.11928|0.11928	0.278077|0.278077	0.09422|0.09422	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	5.85|5.85	-2.21|-2.21	0.06973|0.06973	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33033|0.33033	-0.9884|-0.9884	3|3	.|.	.|.	.|.	.|.	7.4519|7.4519	0.27244|0.27244	0.411:0.2206:0.3684:0.0|0.411:0.2206:0.3684:0.0	rs28394098|rs28394098	.|.	.|.	.|.	R|P	375|155	.|.	.|.	C|L	-|-	1|2	0|0	KIAA0226|KIAA0226	198911954|198911954	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.820000|0.820000	0.46376|0.46376	-0.445000|-0.445000	0.06845|0.06845	-0.698000|-0.698000	0.05085|0.05085	-1.073000|-1.073000	0.02249|0.02249	TGT|CTG	A|0.885;G|0.115	0.115	strong		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		G	197427557	A	G	197427557	2	3	23	1	0	0	0	0	0	0	0	1	8162	175	7	3		3	KIAA0226	3	197427557	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19472	197427557	594873	1096	17552										
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197432029	197432029	+	Silent	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcacgaactgccagtaatcCgtctggcggcggcacgcctg					rs60457064	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:197432029C>A	ENST00000296343.5	-	3	236	c.237G>T	c.(235-237)acG>acT	p.T79T	KIAA0226_ENST00000389665.5_Silent_p.T79T|KIAA0226_ENST00000449205.1_Silent_p.T79T|KIAA0226_ENST00000273582.5_Silent_p.T19T|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	79	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCAGTAATCCGTCTGGCGGC	0.537													A|||	768	0.153355	0.3699	0.0692	5008	,	,		20417	0.0308		0.1034	False		,,,				2504	0.0982				p.T79T	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.G237T						PASS	.	A	,	1255,2771		172,911,930	54	54	54		57,237	-1.5	1	3	dbSNP_129	54	787,7569		38,711,3429	no	coding-synonymous,coding-synonymous	KIAA0226	NM_001145642.2,NM_014687.1	,	210,1622,4359	AA,AC,CC		9.4184,31.1724,16.4917	,	19/928,79/973	197432029	2042,10340	2013	4178	6191	SO:0001819	synonymous_variant	9711	exon3			GTAATCCGTCTGG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.237G>T	3.37:g.197432029C>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	68	45	0.661765	NM_014687	Q96CK5	Silent	SNP	ENST00000296343.5	37	CCDS43195.1	307	0.14056776556776557	179	0.3638211382113821	27	0.07458563535911603	24	0.04195804195804196	77	0.10158311345646438	A	10.54	1.379884	0.24944	0.311724	0.094184	ENSG00000145016	ENST00000413360	.	.	.	5.63	-1.45	0.08828	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999995791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7535	0.00994	0.2454:0.3228:0.2227:0.2091	rs60457064;rs61744833	.	.	.	X	58	.	.	G	-	1	0	KIAA0226	198916426	0.045000	0.20229	0.960000	0.40013	0.967000	0.64934	-0.645000	0.05409	-0.430000	0.07318	-0.269000	0.10298	GGA	C|0.877;A|0.123	0.123	strong		0.537	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		A	197432029	C	A	197432029	2	1	23	1	0	0	0	0	0	0	0	1	8162	639	23	4		4	KIAA0226	3	197432029	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4472	197432029	590401	1097	17553	368	2								
KIAA0226	9711	hgsc.bcm.edu	37	chr3	197432036	197432036	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgccagtaatccgtctggCggcggcacgcctgcaaaggg					rs61743568	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr3:197432036C>T	ENST00000296343.5	-	3	229	c.230G>A	c.(229-231)cGc>cAc	p.R77H	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R77H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R77H|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R17H|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	77	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCCGTCTGGCGGCGGCACGC	0.537													C|||	329	0.0656949	0.1188	0.0403	5008	,	,		20385	0.0		0.0984	False		,,,				2504	0.046				p.R77H	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.G230A						PASS	.	C	HIS/ARG,HIS/ARG	437,3599		26,385,1607	54	53	53		50,230	-1.5	1	3	dbSNP_129	53	724,7632		32,660,3486	yes	missense,missense	KIAA0226	NM_001145642.2,NM_014687.1	29,29	58,1045,5093	TT,TC,CC		8.6644,10.8276,9.3689	benign,benign	17/928,77/973	197432036	1161,11231	2018	4178	6196	SO:0001583	missense	9711	exon3			GTCTGGCGGCGGC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.230G>A	3.37:g.197432036C>T	ENSP00000296343:p.Arg77His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	45	0.661765	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	147	0.0673076923076923	57	0.11585365853658537	15	0.04143646408839779	0	0.0	75	0.09894459102902374	C	14.78	2.637975	0.47153	0.108276	0.086644	ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.63	-1.51	0.08664	RUN (2);	0.482830	0.20874	N	0.084104	T	0.00109	0.0003	N	0.22421	0.69	0.35867	P	0.17206900000000003	B;B;B	0.27140	0.169;0.012;0.015	B;B;B	0.17433	0.018;0.002;0.007	T	0.27673	-1.0067	9	0.41790	T	0.15	.	11.5696	0.50826	0.0:0.3548:0.0:0.6452	.	77;17;77	E9PEM3;Q92622-2;Q92622	.;.;RUBIC_HUMAN	H	17;77;77;77	ENSP00000273582:R17H;ENSP00000296343:R77H;ENSP00000374316:R77H;ENSP00000390962:R77H	ENSP00000273582:R17H	R	-	2	0	KIAA0226	198916433	0.935000	0.31712	0.991000	0.47740	0.824000	0.46624	0.195000	0.17155	-0.170000	0.10816	-0.134000	0.14843	CGC	C|0.929;T|0.071	0.071	strong		0.537	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		T	197432036	C	T	197432036	3	4	23	1	0	0	0	0	1	0	0	0	8162	768	27	1	2809	1	KIAA0226	3	197432036	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7	197432036	590394	1098	17554	368	2								
ZNF595	152687	hgsc.bcm.edu	37	chr4	59350	59350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taacattcagggatgtggccAtagaattctcccctgaagag	10	9	2	3	rs6834707	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:59350A>G	ENST00000509152.2	+	2	216	c.31A>G	c.(31-33)Ata>Gta	p.I11V	ZNF595_ENST00000526473.2_Missense_Mutation_p.I11V|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGATGTGGCCATAGAATTCTC	0.428																																					p.I11V		Atlas-SNP	.											.	.	.	.	0			c.A31G						PASS	.	A	VAL/ILE	117,4289	69.2+/-107.0	0,117,2086	360	388	379		31	0.1	0.7	4	dbSNP_116	379	165,8435	62.8+/-124.8	0,165,4135	no	missense	ZNF595	NM_182524.2	29	0,282,6221	GG,GA,AA		1.9186,2.6555,2.1682	benign	11/649	59350	282,12724	2203	4300	6503	SO:0001583	missense	255403	exon2			GTGGCCATAGAAT	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.31A>G	4.37:g.59350A>G	ENSP00000434858:p.Ile11Val	Somatic	659	0	0		WXS	Illumina HiSeq	Phase_I	863	41	0.0475087	NM_001039127		Missense_Mutation	SNP	ENST00000509152.2	37		.	.	.	.	.	.	.	.	.	.	A	11.22	1.574255	0.28092	0.026555	0.019186	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.00824	5.65;5.65	1.26	0.0585	0.14328	Krueppel-associated box (8);	.	.	.	.	T	0.00300	0.0009	.	.	.	0.09310	N	0.999993	B;B	0.28026	0.198;0.046	B;B	0.30316	0.114;0.017	T	0.48479	-0.9032	8	0.33940	T	0.23	.	3.5569	0.07867	0.4697:0.0:0.5303:0.0	rs6834707;rs6834707	11;11	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	V	11	ENSP00000434858:I11V;ENSP00000437878:I11V	ENSP00000434858:I11V	I	+	1	0	ZNF595	49350	0.068000	0.21057	0.711000	0.30485	0.284000	0.27059	0.134000	0.15932	0.549000	0.28973	0.397000	0.26171	ATA	A|0.997;G|0.003	0.003	strong		0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		G	59350	A	G	59350	3	3	23	1	0	0	0	0	1	0	0	0	18022	217	8	2	37	2	ZNF595	4	59350	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10		59350	191094926	1099	17555										
ZNF732	654254	hgsc.bcm.edu	37	chr4	289877	289877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctatacaaattctgctggGcagggtccaggcatttccac	9	12	2	0	rs62619793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:289877G>T	ENST00000419098.1	-	2	81	c.71C>A	c.(70-72)gCc>gAc	p.A24D		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						ATTCTGCTGGGCAGGGTCCAG	0.423													.|||	191	0.038139	0.0968	0.0317	5008	,	,		17640	0.0		0.0298	False		,,,				2504	0.0112				p.A23D		Atlas-SNP	.											.	ZNF732	117	.	0			c.C68A						PASS	.						33	32	32					4																	289877		692	1590	2282	SO:0001583	missense	654254	exon1			TGCTGGGCAGGGT	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.71C>A	4.37:g.289877G>T	ENSP00000415774:p.Ala24Asp	Somatic	326	1	0.00306748		WXS	Illumina HiSeq	Phase_I	291	138	0.474227	NM_001137608		Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	90	0.04120879120879121	57	0.11585365853658537	11	0.03038674033149171	0	0.0	22	0.029023746701846966	G	6.253	0.414829	0.11870	.	.	ENSG00000186777	ENST00000419098	T	0.02525	4.26	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.00109	0.0003	M	0.88310	2.945	0.80722	P	0.0	B	0.20368	0.044	B	0.28991	0.097	T	0.03566	-1.1024	8	0.72032	D	0.01	.	5.3307	0.15930	0.0:0.0:1.0:0.0	rs62619793	24	B4DXR9	ZN732_HUMAN	D	24	ENSP00000415774:A24D	ENSP00000415774:A24D	A	-	2	0	ZNF732	279877	0.000000	0.05858	0.082000	0.20525	0.084000	0.17831	-1.252000	0.02880	0.300000	0.22699	0.305000	0.20034	GCC	G|0.958;T|0.042	0.042	strong		0.423	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289877	G	T	289877	3	4	23	1	0	0	0	0	1	0	0	0	18120	1203	42	4	1698	4	ZNF732	4	289877	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	230527	289877	190864399	1100	17556										
ZNF721	170960	hgsc.bcm.edu	37	chr4	437221	437221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatgtacgtaaaggtttgcGgactgtctaaaggttttgcc	11	7	1	0	rs114734668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:437221G>A	ENST00000338977.5	-	2	1047	c.999C>T	c.(997-999)tcC>tcT	p.S333S	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.S345S|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAAGGTTTGCGGACTGTCTAA	0.438													g|||	96	0.0191693	0.0197	0.0317	5008	,	,		20834	0.0		0.0348	False		,,,				2504	0.0133				p.R345S		Atlas-SNP	.											.	ZNF721	205	.	0			c.A1035T						PASS	.	G		95,4205		4,87,2059	97	105	102		1035	-1.4	0	4	dbSNP_132	102	313,8221		2,309,3956	no	coding-synonymous	ZNF721	NM_133474.2		6,396,6015	AA,AG,GG		3.6677,2.2093,3.1791		345/924	437221	408,12426	2150	4267	6417	SO:0001819	synonymous_variant	170960	exon3			GTTTGCGGACTGT	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.999C>T	4.37:g.437221G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37																																																																																				G|0.977;A|0.023	0.023	strong		0.438	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		A	437221	G	A	437221	2	1	23	1	0	0	0	0	0	0	0	1	18119	1103	39	1		1	ZNF721	4	437221	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	147344	437221	190717055	1101	17557										
ZNF721	170960	hgsc.bcm.edu	37	chr4	438067	438067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaattccattataaactccCttctgcactttacacacgtt	2	12	1	0	rs73070365	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:438067C>T	ENST00000338977.5	-	2	201	c.153G>A	c.(151-153)aaG>aaA	p.K51K	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.K63K|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	51					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATAAACTCCCTTCTGCACTT	0.308													T|||	350	0.0698882	0.1967	0.0591	5008	,	,		20712	0.0		0.0358	False		,,,				2504	0.0133				p.V63V		Atlas-SNP	.											.	ZNF721	205	.	0			c.A189A						PASS	.	T		620,3442		45,530,1456	65	73	70		189	0	0	4	dbSNP_130	70	305,8181		2,301,3940	no	coding-synonymous	ZNF721	NM_133474.2		47,831,5396	TT,TC,CC		3.5942,15.2634,7.3717		63/924	438067	925,11623	2031	4243	6274	SO:0001819	synonymous_variant	170960	exon3			AACTCCCTTCTGC	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.153G>A	4.37:g.438067C>T		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	155	69	0.445161	NM_133474	Q69YG7	Silent	SNP	ENST00000338977.5	37																																																																																				C|0.943;T|0.057	0.057	strong		0.308	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		T	438067	C	T	438067	2	4	23	1	0	0	0	0	0	0	0	1	18119	680	24	2		2	ZNF721	4	438067	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	846	438067	190716209	1102	17558										
PCGF3	10336	hgsc.bcm.edu	37	chr4	755129	755129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaagcggaagtggatccgCtgctcagcccaggcgaccgt	14	13	1	1	rs2242234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:755129C>T	ENST00000362003.5	+	9	920	c.525C>T	c.(523-525)cgC>cgT	p.R175R	PCGF3_ENST00000470161.2_Silent_p.R175R|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Silent_p.R141R|PCGF3_ENST00000505655.2_Silent_p.R175R	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AGTGGATCCGCTGCTCAGCCC	0.542													C|||	283	0.0565096	0.0121	0.049	5008	,	,		17446	0.125		0.0577	False		,,,				2504	0.0501				p.R175R		Atlas-SNP	.											.	PCGF3	23	.	0			c.C525T						PASS	.	C		61,3893		1,59,1917	62	68	66		525	3.2	1	4	dbSNP_98	66	510,7788		13,484,3652	no	coding-synonymous	PCGF3	NM_006315.4		14,543,5569	TT,TC,CC		6.1461,1.5427,4.6605		175/243	755129	571,11681	1977	4149	6126	SO:0001819	synonymous_variant	10336	exon9			GATCCGCTGCTCA	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.525C>T	4.37:g.755129C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	162	72	0.444444	NM_006315	D3DVN1|O15262	Silent	SNP	ENST00000362003.5	37	CCDS3339.2																																																																																			C|0.930;T|0.070	0.070	strong		0.542	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		T	755129	C	T	755129	2	4	23	1	0	0	0	0	0	0	0	1	11576	784	28	2		2	PCGF3	4	755129	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	317062	755129	190399147	1103	17559										
GAK	2580	hgsc.bcm.edu	37	chr4	843536	843536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgaagatcatcttggcGtgctgctcgtacggctgccc	11	13	2	2	rs55904229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:843536G>A	ENST00000314167.4	-	28	3971	c.3861C>T	c.(3859-3861)caC>caT	p.H1287H	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.H1208H	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1287	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCATCTTGGCGTGCTGCTCGT	0.672													G|||	9	0.00179712	0.0008	0.0	5008	,	,		14022	0.0		0.006	False		,,,				2504	0.002				p.H1287H		Atlas-SNP	.											.	GAK	104	.	0			c.C3861T						PASS	.	G		7,4399	12.9+/-30.5	0,7,2196	51	49	50		3861	-7.5	0	4	dbSNP_129	50	55,8545	34.3+/-88.2	0,55,4245	no	coding-synonymous	GAK	NM_005255.2		0,62,6441	AA,AG,GG		0.6395,0.1589,0.4767		1287/1312	843536	62,12944	2203	4300	6503	SO:0001819	synonymous_variant	2580	exon28			CTTGGCGTGCTGC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3861C>T	4.37:g.843536G>A		Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	268	132	0.492537	NM_005255	Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	CCDS3340.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	1.270	-0.613465	0.03690	0.001589	0.006395	ENSG00000178950	ENST00000511980	.	.	.	4.76	-7.48	0.01360	.	.	.	.	.	T	0.45458	0.1343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59005	-0.7535	4	.	.	.	-0.8575	11.9205	0.52789	0.7915:0.1057:0.1028:0.0	rs55904229	.	.	.	M	443	.	.	T	-	2	0	GAK	833536	0.555000	0.26530	0.003000	0.11579	0.228000	0.25075	-0.100000	0.10990	-1.556000	0.01695	-0.796000	0.03273	ACG	G|0.997;A|0.003	0.003	strong		0.672	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		A	843536	G	A	843536	2	1	23	1	0	0	0	0	0	0	0	1	6195	1136	40	1		1	GAK	4	843536	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	88407	843536	190310740	1104	17560										
SLC26A1	10861	hgsc.bcm.edu	37	chr4	983868	983868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcagcggcaccctcaggcGgtgtcggtagcggtctgaga	18	11	2	1	rs201572215		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:983868G>A	ENST00000361661.2	-	4	1236	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	SLC26A1_ENST00000398516.2_Missense_Mutation_p.R287C|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	287					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCTCAGGCGGTGTCGGTAG	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17070	0.0		0.0	False		,,,				2504	0.0				p.R287C		Atlas-SNP	.											SLC26A1,colon,carcinoma,0,2	SLC26A1	44	2	0			c.C859T						scavenged	.	G	,CYS/ARG,,CYS/ARG	0,4366		0,0,2183	27	21	23		,859,,859	3	0.8	4		23	2,8578		0,2,4288	yes	intron,missense,intron,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,180,,180	0,2,6471	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging,,possibly-damaging	,287/702,,287/702	983868	2,12944	2183	4290	6473	SO:0001583	missense	10861	exon3			TCAGGCGGTGTCG	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.859C>T	4.37:g.983868G>A	ENSP00000354721:p.Arg287Cys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	73	2	0.0273973	NM_022042	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	CCDS33934.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.44	1.937885	0.34189	0.0	2.33E-4	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.93366	-3.21;-3.21	4.97	2.97	0.34412	Sulphate transporter (1);	0.622270	0.17478	N	0.172846	D	0.94928	0.8360	M	0.80982	2.52	0.09310	N	1	D	0.56746	0.977	P	0.58077	0.832	D	0.88360	0.2987	10	0.87932	D	0	.	7.2805	0.26308	0.0961:0.0:0.6662:0.2377	.	287	Q9H2B4	S26A1_HUMAN	C	287	ENSP00000354721:R287C;ENSP00000381528:R287C	ENSP00000354721:R287C	R	-	1	0	SLC26A1	973868	0.001000	0.12720	0.780000	0.31762	0.053000	0.15095	0.610000	0.24253	1.054000	0.40438	0.561000	0.74099	CGC	G|1.000;A|0.000	0.000	strong		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		A	983868	G	A	983868	3	1	23	1	0	0	0	0	1	0	0	0	14514	1116	39	1	1353	1	SLC26A1	4	983868	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	140332	983868	190170408	1105	17561										
IDUA	3425	hgsc.bcm.edu	37	chr4	994414	994414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcagggggtccactggacGgggcctgagctacaacttca	14	12	1	1	rs3755955	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:994414G>A	ENST00000247933.4	+	3	402	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	IDUA_ENST00000514224.1_5'UTR|IDUA_ENST00000453894.1_Missense_Mutation_p.R58Q	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	105			R -> Q (in dbSNP:rs3755955). {ECO:0000269|PubMed:15300847, ECO:0000269|PubMed:21394825}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCACTGGACGGGGCCTGAGC	0.647													G|||	845	0.16873	0.1271	0.0908	5008	,	,		16643	0.2073		0.167	False		,,,				2504	0.2423				p.R105Q		Atlas-SNP	.											.	IDUA	33	.	0			c.G314A						PASS	.	G	GLN/ARG	473,3931	221.7+/-238.7	27,419,1756	72	66	68		314	1.5	0	4	dbSNP_107	68	1376,7222	266.8+/-286.9	113,1150,3036	yes	missense	IDUA	NM_000203.3	43	140,1569,4792	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	16.0037,10.7402,14.2209	benign	105/654	994414	1849,11153	2202	4299	6501	SO:0001583	missense	3425	exon3			CTGGACGGGGCCT	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.314G>A	4.37:g.994414G>A	ENSP00000247933:p.Arg105Gln	Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	214	103	0.481308	NM_000203	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	328|328	0.15018315018315018|0.15018315018315018	56|56	0.11382113821138211|0.11382113821138211	33|33	0.09116022099447514|0.09116022099447514	114|114	0.1993006993006993|0.1993006993006993	125|125	0.16490765171503957|0.16490765171503957	G|G	4.542|4.542	0.100603|0.100603	0.08731|0.08731	0.107402|0.107402	0.160037|0.160037	ENSG00000127415|ENSG00000127415	ENST00000504568|ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948	.|D;D;D;D;D	.|0.92299	.|-3.01;-3.01;-3.01;-3.01;-3.01	4.97|4.97	1.53|1.53	0.23141|0.23141	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.771606	.|0.12090	.|N	.|0.500501	T|T	0.00210|0.00210	0.0006|0.0006	N|N	0.01482|0.01482	-0.84|-0.84	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.10296	.|0.002;0.003	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.14783|0.14783	-1.0460|-1.0460	4|9	.|0.08599	.|T	.|0.76	-26.7134|-26.7134	3.6885|3.6885	0.08338|0.08338	0.3914:0.0:0.4299:0.1786|0.3914:0.0:0.4299:0.1786	rs3755955;rs57374078;rs3755955|rs3755955;rs57374078;rs3755955	.|58;105	.|B3KWK6;P35475	.|.;IDUA_HUMAN	R|Q	92|105;58;58;44;36	.|ENSP00000247933:R105Q;ENSP00000396458:R58Q;ENSP00000422952:R58Q;ENSP00000423685:R44Q;ENSP00000424227:R36Q	.|ENSP00000247933:R105Q	G|R	+|+	1|2	0|0	IDUA|IDUA	984414|984414	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.012000|0.012000	0.13287|0.13287	-0.017000|-0.017000	0.14103|0.14103	-1.326000|-1.326000	0.01283|0.01283	GGG|CGG	G|0.859;A|0.141	0.141	strong		0.647	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		A	994414	G	A	994414	3	1	23	1	0	0	0	0	1	0	0	0	7504	1116	39	1	324	1	IDUA	4	994414	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10546	994414	190159862	1106	17562										
IDUA	3425	hgsc.bcm.edu	37	chr4	994452	994452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacccacctggacgggtacCtggaccttctcagggagaac	11	14	2	1	rs3755954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:994452C>T	ENST00000247933.4	+	3	440	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IDUA_ENST00000514224.1_5'UTR|IDUA_ENST00000453894.1_Silent_p.L71L	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	118					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGACGGGTACCTGGACCTTCT	0.672													C|||	812	0.162141	0.1626	0.2046	5008	,	,		16145	0.1478		0.2505	False		,,,				2504	0.0552				p.L118L		Atlas-SNP	.											.	IDUA	33	.	0			c.C352T						PASS	.	C		859,3543	333.3+/-302.9	105,649,1447	71	63	66		352	-0.7	0.6	4	dbSNP_107	66	2075,6525	358.1+/-331.0	250,1575,2475	yes	coding-synonymous	IDUA	NM_000203.3		355,2224,3922	TT,TC,CC		24.1279,19.5139,22.5658		118/654	994452	2934,10068	2201	4300	6501	SO:0001819	synonymous_variant	3425	exon3			GGGTACCTGGACC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.352C>T	4.37:g.994452C>T		Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	221	96	0.434389	NM_000203	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1																																																																																			C|0.784;T|0.216	0.216	strong		0.672	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	994452	C	T	994452	2	4	23	1	0	0	0	0	0	0	0	1	7504	680	24	2		2	IDUA	4	994452	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38	994452	190159824	1107	17563										
IDUA	3425	hgsc.bcm.edu	37	chr4	995305	995305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaacttcgagacgtggaaTgagccagaccaccacgactt	11	11	0	3	rs6815946	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:995305T>C	ENST00000247933.4	+	5	631	c.543T>C	c.(541-543)aaT>aaC	p.N181N	IDUA_ENST00000514224.1_Silent_p.N49N|IDUA_ENST00000453894.1_Silent_p.N134N	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	181					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGACGTGGAATGAGCCAGACC	0.597													C|||	1101	0.219848	0.2526	0.111	5008	,	,		17046	0.2133		0.17	False		,,,				2504	0.3108				p.N181N		Atlas-SNP	.											.	IDUA	33	.	0			c.T543C						PASS	.	C		894,3512	739.9+/-411.1	103,688,1412	210	156	174		543	-5.4	0.7	4	dbSNP_116	174	1386,7214	753.2+/-407.4	115,1156,3029	no	coding-synonymous	IDUA	NM_000203.3		218,1844,4441	CC,CT,TT		16.1163,20.2905,17.5304		181/654	995305	2280,10726	2203	4300	6503	SO:0001819	synonymous_variant	3425	exon5			GTGGAATGAGCCA	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.543T>C	4.37:g.995305T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	85	39	0.458824	NM_000203	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1	409	0.18727106227106227	121	0.2459349593495935	43	0.11878453038674033	119	0.20804195804195805	126	0.1662269129287599	C	7.991	0.753384	0.15778	0.202905	0.161163	ENSG00000127415	ENST00000504568	.	.	.	4.58	-5.41	0.02648	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11470	-1.0586	3	.	.	.	0.1224	12.6687	0.56855	0.0:0.3344:0.0:0.6656	rs6815946;rs6815946	.	.	.	T	168	.	.	M	+	2	0	IDUA	985305	0.010000	0.17322	0.724000	0.30704	0.493000	0.33554	-1.159000	0.03150	-1.688000	0.01435	-1.163000	0.01768	ATG	T|0.821;C|0.179	0.179	strong		0.597	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	995305	T	C	995305	2	2	23	1	0	0	0	0	0	0	0	1	7504	1461	51	2		2	IDUA	4	995305	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	853	995305	190158971	1108	17564										
IDUA	3425	hgsc.bcm.edu	37	chr4	995919	995919	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccacagccgtggagggcGgacgtgacctacgcggccat	15	14	0	1	rs6830825	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:995919G>C	ENST00000247933.4	+	7	1030	c.942G>C	c.(940-942)gcG>gcC	p.A314A	IDUA_ENST00000514224.1_Silent_p.A182A|IDUA_ENST00000453894.1_Missense_Mutation_p.G301R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	314					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGGAGGGCGGACGTGACCT	0.711													C|||	1095	0.21865	0.2489	0.111	5008	,	,		13585	0.2133		0.169	False		,,,				2504	0.3108				p.A314A		Atlas-SNP	.											IDUA,NS,carcinoma,0,1	IDUA	33	1	0			c.G942C						PASS	.	C		758,3528		75,608,1460	15	17	16		942	-10.3	0	4	dbSNP_116	16	1219,7221		94,1031,3095	no	coding-synonymous	IDUA	NM_000203.3		169,1639,4555	CC,CG,GG		14.4431,17.6855,15.5351		314/654	995919	1977,10749	2143	4220	6363	SO:0001819	synonymous_variant	3425	exon7			GAGGGCGGACGTG	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.942G>C	4.37:g.995919G>C		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	35	18	0.514286	NM_000203	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1	409	0.18727106227106227	121	0.2459349593495935	43	0.11878453038674033	119	0.20804195804195805	126	0.1662269129287599	C	0.004	-2.296533	0.00245	0.176855	0.144431	ENSG00000127415	ENST00000453894	D	0.94931	-3.56	5.15	-10.3	0.00346	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.48559	-0.9025	7	0.21014	T	0.42	.	0.4596	0.00514	0.2817:0.2432:0.1416:0.3334	rs6830825;rs60925429	301	B3KWK6	.	R	301	ENSP00000396458:G301R	ENSP00000396458:G301R	G	+	1	0	IDUA	985919	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.282000	0.00260	-3.294000	0.00194	-2.305000	0.00258	GGA	G|0.815;C|0.185	0.185	strong		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	995919	G	C	995919	2	2	23	1	0	0	0	0	0	0	0	1	7504	1103	39	4		4	IDUA	4	995919	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	614	995919	190158357	1109	17565										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388324	1388324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagccctcgctttgtgccAatgtggagtgcccgcctgct	12	13	0	1	rs74377230		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1388324A>C	ENST00000324803.4	+	1	2985	c.25A>C	c.(25-27)Aat>Cat	p.N9H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	9					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTTTGTGCCAATGTGGAGTG	0.537																																					p.N9H		Atlas-SNP	.											CRIPAK,caecum,carcinoma,0,1	CRIPAK	185	1	0			c.A25C						scavenged	.						124	130	128					4																	1388324		2203	4300	6503	SO:0001583	missense	285464	exon1			TGTGCCAATGTGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.25A>C	4.37:g.1388324A>C	ENSP00000323978:p.Asn9His	Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	178	23	0.129213	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	0.580	-0.837604	0.02692	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.23348	1.91	.	.	.	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	7	0.49607	T	0.09	.	.	.	.	.	9	Q8N1N5	CRPAK_HUMAN	H	9;2	ENSP00000323978:N9H	ENSP00000323978:N9H	N	+	1	0	CRIPAK	1378324	0.752000	0.28338	0.019000	0.16419	0.027000	0.11550	-1.046000	0.03525	-1.644000	0.01517	-1.639000	0.00775	AAT	A|0.833;C|0.167	0.167	weak		0.537	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388324	A	C	1388324	3	2	23	1	0	0	0	0	1	0	0	0	3877	130	5	5	27	5	CRIPAK	4	1388324	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	392405	1388324	189765952	1110	17566			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388378	1388378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggagtgcccgcctgctcaTgtgcccatgtggagtgcccg	15	13	1	0	rs55884223	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1388378T>C	ENST00000324803.4	+	1	3039	c.79T>C	c.(79-81)Tgt>Cgt	p.C27R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	27					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGCCTGCTCATGTGCCCATGT	0.637													N|||	782	0.15615	0.1952	0.1412	5008	,	,		16132	0.0278		0.2286	False		,,,				2504	0.1718				p.C27R		Atlas-SNP	.											CRIPAK,NS,carcinoma,-1,1	CRIPAK	185	1	0			c.T79C						scavenged	.						172	171	171					4																	1388378		2203	4300	6503	SO:0001583	missense	285464	exon1			TGCTCATGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.79T>C	4.37:g.1388378T>C	ENSP00000323978:p.Cys27Arg	Somatic	209	7	0.0334928		WXS	Illumina HiSeq	Phase_I	190	48	0.252632	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	T	2.439	-0.329099	0.05314	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25414	1.8	0.824	-1.65	0.08291	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.34679	D	0.724554	B	0.20052	0.041	B	0.11329	0.006	T	0.40850	-0.9541	9	0.09338	T	0.73	.	2.0645	0.03600	0.2577:0.2174:0.0:0.5249	rs55884223	27	Q8N1N5	CRPAK_HUMAN	R	27;20	ENSP00000323978:C27R	ENSP00000323978:C27R	C	+	1	0	CRIPAK	1378378	0.017000	0.18338	0.001000	0.08648	0.007000	0.05969	-0.458000	0.06737	-0.973000	0.03555	0.344000	0.21773	TGT	T|0.993;C|0.007	0.007	strong		0.637	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388378	T	C	1388378	3	2	23	1	0	0	0	0	1	0	0	0	3877	1464	51	2	81	2	CRIPAK	4	1388378	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	54	1388378	189765898	1111	17567			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388553	1388553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgcccatgtggagtgcccAcctgctcacatgtgccgatg	12	13	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1388553A>G	ENST00000324803.4	+	1	3214	c.254A>G	c.(253-255)cAc>cGc	p.H85R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	85					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCACCTGCTCACA	0.647																																					p.H85R		Atlas-SNP	.											CRIPAK,NS,carcinoma,0,1	CRIPAK	185	1	0			c.A254G						scavenged	.						276	239	251					4																	1388553		2203	4300	6503	SO:0001583	missense	285464	exon1			GTGCCCACCTGCT	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.254A>G	4.37:g.1388553A>G	ENSP00000323978:p.His85Arg	Somatic	251	3	0.0119522		WXS	Illumina HiSeq	Phase_I	227	14	0.061674	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	N	2.225	-0.377390	0.05000	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.22336	1.96	1.11	0.176	0.15049	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	9	0.11485	T	0.65	.	5.3685	0.16127	0.3874:0.0:0.6126:0.0	.	85	Q8N1N5	CRPAK_HUMAN	R	85;78	ENSP00000323978:H85R	ENSP00000323978:H85R	H	+	2	0	CRIPAK	1378553	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.861000	0.00726	-0.365000	0.08076	-1.123000	0.02005	CAC	.	.	none		0.647	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388553	A	G	1388553	3	3	23	1	0	0	0	0	1	0	0	0	3877	159	6	2	256	2	CRIPAK	4	1388553	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	175	1388553	189765723	1112	17568			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagtgccacctgctcacaCacgtgcccatgtggagtgcc					rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																					p.98_108del		Pindel	.											.	CRIPAK	185	.	1	Substitution - Missense(1)	pancreas(1)	c.294_322del						PASS	.																																			SO:0001589	frameshift_variant	285464	exon1			.	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs	Somatic	184	.	.		WXS	Illumina HiSeq	Phase_I	157	47	0.299	NM_175918	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																			.	.	none		0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		-	1388622	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	1388594	7	5	23	1	0	1	0	1	0	0	0	0	3877	478	17	0	297	0	CRIPAK	4	1388594	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	TCGA-GR-7353-01A-11D-2210-10	41	1388594	189765682	1113	17569			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388724	1388724	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs76728908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1388724C>G	ENST00000324803.4	+	1	3385	c.425C>G	c.(424-426)cCa>cGa	p.P142R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	142					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P142R(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	556	0.111022	0.0658	0.1657	5008	,	,		14551	0.0238		0.1968	False		,,,				2504	0.135				p.P142R		Atlas-SNP	.											CRIPAK,NS,other,0,1	CRIPAK	185	1	1	Substitution - Missense(1)	pancreas(1)	c.C425G						scavenged	.						38	36	36					4																	1388724		1907	3680	5587	SO:0001583	missense	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.425C>G	4.37:g.1388724C>G	ENSP00000323978:p.Pro142Arg	Somatic	54	1	0.0185185		WXS	Illumina HiSeq	Phase_I	31	20	0.645161	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	0.221	-1.028683	0.02045	.	.	ENSG00000179979	ENST00000324803	T	0.19250	2.16	0.948	-1.9	0.07665	Post-SET domain (1);	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.28364	-1.0046	9	0.09843	T	0.71	.	0.6802	0.00873	0.2336:0.357:0.2313:0.1781	.	142	Q8N1N5	CRPAK_HUMAN	R	142	ENSP00000323978:P142R	ENSP00000323978:P142R	P	+	2	0	CRIPAK	1378724	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.476000	0.02333	-2.809000	0.00348	-3.729000	0.00022	CCA	C|0.500;G|0.500	0.500	weak		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388724	C	G	1388724	3	3	23	1	0	0	0	0	1	0	0	0	3877	594	21	4	427	4	CRIPAK	4	1388724	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	130	1388724	189765552	1114	17570			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389005	1389005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1389005T>C	ENST00000324803.4	+	1	3666	c.706T>C	c.(706-708)Tgc>Cgc	p.C236R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	236					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.672													t|||	859	0.171526	0.1059	0.245	5008	,	,		14444	0.0437		0.2913	False		,,,				2504	0.2168				p.C236R		Atlas-SNP	.											CRIPAK,rectum,NS,0,1	CRIPAK	185	1	0			c.T706C						PASS	.						163	133	143					4																	1389005		2188	4292	6480	SO:0001583	missense	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.706T>C	4.37:g.1389005T>C	ENSP00000323978:p.Cys236Arg	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	13	8	0.615385	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	t	1.791	-0.479438	0.04383	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.18338	2.22	1.11	-2.23	0.06930	Post-SET domain (1);	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32214	-0.9915	9	0.46703	T	0.11	.	2.6743	0.05077	0.0:0.3283:0.2597:0.412	.	236	Q8N1N5	CRPAK_HUMAN	R	236;178	ENSP00000323978:C236R	ENSP00000323978:C236R	C	+	1	0	CRIPAK	1379005	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.211000	0.09332	-0.571000	0.06014	-0.530000	0.04314	TGC	C|1.000;|0.000	1.000	weak		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1389005	T	C	1389005	3	2	23	1	0	0	0	0	1	0	0	0	3877	1464	51	2	708	2	CRIPAK	4	1389005	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	281	1389005	189765271	1115	17571			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389161	1389161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcacatgtgccgatgtggAgtgcccgcctgctcacacgt	12	14	2	0	rs71614973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1389161A>G	ENST00000324803.4	+	1	3822	c.862A>G	c.(862-864)Agt>Ggt	p.S288G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	288					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGAGTGCCCGCCT	0.687													A|||	1051	0.209864	0.1362	0.2983	5008	,	,		13955	0.0536		0.3748	False		,,,				2504	0.2382				p.S288G		Atlas-SNP	.											.	CRIPAK	185	.	0			c.A862G						PASS	.						127	128	128					4																	1389161		2202	4298	6500	SO:0001583	missense	285464	exon1			ATGTGGAGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.862A>G	4.37:g.1389161A>G	ENSP00000323978:p.Ser288Gly	Somatic	150	1	0.00666667		WXS	Illumina HiSeq	Phase_I	33	30	0.909091	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	1.586	-0.530434	0.04112	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.21734	1.99	0.815	-1.63	0.08345	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.39761	-0.9598	8	0.07175	T	0.84	.	2.8991	0.05700	0.2283:0.0:0.4427:0.329	.	288	Q8N1N5	CRPAK_HUMAN	G	288;230	ENSP00000323978:S288G	ENSP00000323978:S288G	S	+	1	0	CRIPAK	1379161	0.046000	0.20272	0.000000	0.03702	0.001000	0.01503	-1.350000	0.02624	-1.564000	0.01678	-0.530000	0.04314	AGT	G|1.000;|0.000	1.000	weak		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389161	A	G	1389161	3	3	23	1	0	0	0	0	1	0	0	0	3877	304	11	3	864	3	CRIPAK	4	1389161	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	156	1389161	189765115	1116	17572			4	73		7	7	838	N	T_CACGTGCCCATGTGGAGTGCCCGCCTGCT_C_A	5.773245e-09
TACC3	10460	hgsc.bcm.edu	37	chr4	1729958	1729958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgaagccctgggctgccctGcgggtgtgggcacccccgtg	17	15	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:1729958G>T	ENST00000313288.4	+	4	935	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	277					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGGCTGCCCTGCGGGTGTGGG	0.667																																					p.A277S	Ovarian(120;482 2294 11894 35824)	Atlas-SNP	.											.	TACC3	69	.	0			c.G829T						PASS	.						15	17	16					4																	1729958		2193	4293	6486	SO:0001583	missense	10460	exon4			TGCCCTGCGGGTG	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.829G>T	4.37:g.1729958G>T	ENSP00000326550:p.Ala277Ser	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	95	59	0.621053	NM_006342	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	3.044	-0.196772	0.06259	.	.	ENSG00000013810	ENST00000313288	T	0.10477	2.87	3.55	-3.23	0.05109	.	10.642000	0.00481	U	0.000126	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.12837	0.008;0.004	T	0.30736	-0.9968	10	0.10636	T	0.68	0.0017	4.8773	0.13662	0.3038:0.2546:0.4416:0.0	.	277;277	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	S	277	ENSP00000326550:A277S	ENSP00000326550:A277S	A	+	1	0	TACC3	1699756	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.169000	0.09911	-0.955000	0.03636	0.563000	0.77884	GCG	.	.	none		0.667	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1729958	G	T	1729958	3	4	23	1	0	0	0	0	1	0	0	0	15500	1319	46	4	839	4	TACC3	4	1729958	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	340797	1729958	189424318	1117	17573										
POLN	353497	hgsc.bcm.edu	37	chr4	2160894	2160894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taacttacctgcctgtattcCaaaattatcttgggtaatgg	7	8	1	0	rs10488836	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2160894C>T	ENST00000511885.2	-	14	1952	c.1599G>A	c.(1597-1599)ttG>ttA	p.L533L	POLN_ENST00000382865.1_Silent_p.L533L|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	533					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCCTGTATTCCAAAATTATCT	0.358								DNA polymerases (catalytic subunits)					C|||	1009	0.201478	0.2579	0.1686	5008	,	,		20719	0.3363		0.0706	False		,,,				2504	0.1442				p.L533L		Atlas-SNP	.											.	POLN	82	.	0			c.G1599A						PASS	.	C		1012,3394	376.1+/-321.9	116,780,1307	100	99	100		1599	3.6	1	4	dbSNP_119	100	521,8079	146.5+/-202.0	16,489,3795	no	coding-synonymous	POLN	NM_181808.2		132,1269,5102	TT,TC,CC		6.0581,22.9687,11.7869		533/901	2160894	1533,11473	2203	4300	6503	SO:0001819	synonymous_variant	353497	exon12			GTATTCCAAAATT	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1599G>A	4.37:g.2160894C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	139	68	0.489209	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1	430	0.19688644688644688	124	0.25203252032520324	62	0.1712707182320442	191	0.3339160839160839	53	0.06992084432717678	C	9.161	1.018610	0.19355	0.229687	0.060581	ENSG00000130997	ENST00000511098	.	.	.	4.45	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999996907	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9353	7.6446	0.28312	0.0:0.887:0.0:0.113	rs10488836;rs58340560;rs10488836	.	.	.	X	166	.	.	W	-	2	0	POLN	2130692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.431000	0.44775	2.460000	0.83146	0.650000	0.86243	TGG	C|0.840;T|0.160	0.160	strong		0.358	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		T	2160894	C	T	2160894	2	4	23	1	0	0	0	0	0	0	0	1	12207	593	21	2		2	POLN	4	2160894	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	430936	2160894	188993382	1118	17574										
POLN	353497	hgsc.bcm.edu	37	chr4	2175733	2175733	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttgttcacctgaatggcAtggctttccatcactgtgat	8	10	3	2	rs2022302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2175733A>G	ENST00000511885.2	-	11	1676	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	POLN_ENST00000382865.1_Silent_p.H441H|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	441					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGAATGGCATGGCTTTCCA	0.418								DNA polymerases (catalytic subunits)					G|||	1612	0.321885	0.5703	0.2435	5008	,	,		24761	0.373		0.1243	False		,,,				2504	0.1922				p.H441H		Atlas-SNP	.											.	POLN	82	.	0			c.T1323C						PASS	.	G		2221,2185	586.4+/-386.5	581,1059,563	270	231	244		1323	-0.9	0	4	dbSNP_94	244	995,7605	773.9+/-407.7	60,875,3365	no	coding-synonymous	POLN	NM_181808.2		641,1934,3928	GG,GA,AA		11.5698,49.5915,24.727		441/901	2175733	3216,9790	2203	4300	6503	SO:0001819	synonymous_variant	353497	exon9			AATGGCATGGCTT	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1323T>C	4.37:g.2175733A>G		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	166	99	0.596386	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1	677	0.309981684981685	281	0.5711382113821138	91	0.2513812154696133	210	0.36713286713286714	95	0.12532981530343007	G	0.009	-1.809418	0.00606	0.504085	0.115698	ENSG00000130997	ENST00000511098	.	.	.	4.28	-0.849	0.10723	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51012	P	9.80000000000425E-5	.	.	.	.	.	.	T	0.46400	-0.9194	3	.	.	.	-3.7462	9.2076	0.37298	0.5601:0.0:0.4399:0.0	rs2022302;rs61574681;rs2022302	.	.	.	T	75	.	.	M	-	2	0	POLN	2145531	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.618000	0.02049	-0.617000	0.05664	-2.725000	0.00131	ATG	A|0.714;G|0.286	0.286	strong		0.418	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		G	2175733	A	G	2175733	2	3	23	1	0	0	0	0	0	0	0	1	12207	214	8	2		2	POLN	4	2175733	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14839	2175733	188978543	1119	17575										
POLN	353497	hgsc.bcm.edu	37	chr4	2176454	2176454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaggaagctccaaagtacGaaatagttgccataaaccat	8	9	0	1	rs9328764	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2176454G>A	ENST00000511885.2	-	10	1626	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	POLN_ENST00000382865.1_Missense_Mutation_p.R425C|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	425			R -> C (in dbSNP:rs9328764). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCCAAAGTACGAAATAGTTGC	0.333								DNA polymerases (catalytic subunits)					A|||	1612	0.321885	0.5703	0.2435	5008	,	,		20717	0.373		0.1243	False		,,,				2504	0.1922				p.R425C		Atlas-SNP	.											.	POLN	82	.	0			c.C1273T						PASS	.	A	CYS/ARG	2220,2186	583.8+/-385.9	580,1060,563	63	68	66		1273	4.5	1	4	dbSNP_119	66	995,7605	772.9+/-407.7	59,877,3364	yes	missense	POLN	NM_181808.2	180	639,1937,3927	AA,AG,GG		11.5698,49.6142,24.7194	benign	425/901	2176454	3215,9791	2203	4300	6503	SO:0001583	missense	353497	exon8			AAGTACGAAATAG	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1273C>T	4.37:g.2176454G>A	ENSP00000435506:p.Arg425Cys	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	178	87	0.488764	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	678	0.31043956043956045	282	0.573170731707317	91	0.2513812154696133	210	0.36713286713286714	95	0.12532981530343007	A	12.38	1.919595	0.33908	0.503858	0.115698	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.09255	3.0;3.0	5.64	4.48	0.54585	.	0.376286	0.31246	N	0.007983	T	0.00012	0.0000	N	0.25426	0.745	0.47547	P	5.439999999999889E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.36553	-0.9743	9	0.27785	T	0.31	0.361	6.7108	0.23276	0.8195:0.0:0.1805:0.0	rs9328764;rs52794301;rs57613484;rs9328764	425;15;425	E7ERY2;C9JDP8;Q7Z5Q5	.;.;DPOLN_HUMAN	C	425;425;116;15	ENSP00000435506:R425C;ENSP00000372316:R425C	ENSP00000253313:R116C	R	-	1	0	POLN	2146252	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	1.365000	0.34182	0.984000	0.38629	-0.521000	0.04368	CGT	G|0.682;A|0.318	0.318	strong		0.333	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		A	2176454	G	A	2176454	3	1	23	1	0	0	0	0	1	0	0	0	12207	1058	37	1	1497	1	POLN	4	2176454	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	721	2176454	188977822	1120	17576										
POLN	353497	hgsc.bcm.edu	37	chr4	2194946	2194946	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttaccatgcttccaactgcCatcattgccaaaaaactgca					rs10011549	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2194946C>T	ENST00000511885.2	-	7	1359	c.1006G>A	c.(1006-1008)Ggc>Agc	p.G336S	POLN_ENST00000382865.1_Missense_Mutation_p.G336S|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	336			G -> S (in dbSNP:rs10011549). {ECO:0000269|Ref.3}.		double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCCAACTGCCATCATTGCCA	0.358								DNA polymerases (catalytic subunits)					C|||	1656	0.330671	0.6029	0.2464	5008	,	,		17328	0.372		0.1243	False		,,,				2504	0.1922				p.G336S		Atlas-SNP	.											.	POLN	82	.	0			c.G1006A						PASS	.	C	SER/GLY	2357,2047	601.5+/-389.7	663,1031,508	83	90	88		1006	0.4	0	4	dbSNP_119	88	992,7608	212.8+/-253.0	60,872,3368	yes	missense	POLN	NM_181808.2	56	723,1903,3876	TT,TC,CC		11.5349,46.4805,25.7536	benign	336/901	2194946	3349,9655	2202	4300	6502	SO:0001583	missense	353497	exon5			AACTGCCATCATT	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1006G>A	4.37:g.2194946C>T	ENSP00000435506:p.Gly336Ser	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	178	83	0.466292	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	694	0.31776556776556775	299	0.6077235772357723	91	0.2513812154696133	209	0.36538461538461536	95	0.12532981530343007	C	3.265	-0.150292	0.06585	0.535195	0.115349	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	T;T	0.04862	3.54;3.54	5.48	0.379	0.16213	.	1.209770	0.05508	N	0.559735	T	0.00012	0.0000	L	0.31294	0.92	0.80722	P	0.0	B;B	0.15719	0.014;0.006	B;B	0.13407	0.009;0.004	T	0.36601	-0.9741	9	0.15952	T	0.53	-0.5074	3.1464	0.06473	0.3199:0.4138:0.0:0.2663	rs10011549;rs52816412;rs58504233;rs10011549	336;336	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	S	336;336;27	ENSP00000435506:G336S;ENSP00000372316:G336S	ENSP00000253313:G27S	G	-	1	0	POLN	2164744	0.000000	0.05858	0.005000	0.12908	0.048000	0.14542	-0.334000	0.07883	0.249000	0.21456	0.655000	0.94253	GGC	C|0.708;T|0.292	0.292	strong		0.358	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		T	2194946	C	T	2194946	3	4	23	1	0	0	0	0	1	0	0	0	12207	594	21	2	1776	2	POLN	4	2194946	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18492	2194946	188959330	1121	17577	369	2								
POLN	353497	hgsc.bcm.edu	37	chr4	2194953	2194953	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttccaactgccatcattGccaaaaaactgcagcactat					rs10002583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2194953G>A	ENST00000511885.2	-	7	1352	c.999C>T	c.(997-999)ggC>ggT	p.G333G	POLN_ENST00000382865.1_Silent_p.G333G|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	333					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGCCATCATTGCCAAAAAACT	0.353								DNA polymerases (catalytic subunits)					A|||	1656	0.330671	0.6029	0.2464	5008	,	,		17739	0.372		0.1243	False		,,,				2504	0.1922				p.G333G		Atlas-SNP	.											.	POLN	82	.	0			c.C999T						PASS	.	A		2359,2045	566.1+/-381.8	663,1033,506	85	92	89		999	3.1	0.6	4	dbSNP_119	89	993,7607	773.5+/-407.7	60,873,3367	no	coding-synonymous	POLN	NM_181808.2		723,1906,3873	AA,AG,GG		11.5465,46.4351,25.7767		333/901	2194953	3352,9652	2202	4300	6502	SO:0001819	synonymous_variant	353497	exon5			ATCATTGCCAAAA	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.999C>T	4.37:g.2194953G>A		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	188	88	0.468085	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1																																																																																			G|0.735;A|0.265	0.265	strong		0.353	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		A	2194953	G	A	2194953	2	1	23	1	0	0	0	0	0	0	0	1	12207	1306	46	2		2	POLN	4	2194953	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7	2194953	188959323	1122	17578	369	2								
POLN	353497	hgsc.bcm.edu	37	chr4	2195024	2195024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaggacatttacatttcaTtgtttgaaatagcacgttcc	6	8	1	1	rs10018786	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:2195024T>G	ENST00000511885.2	-	7	1281	c.928A>C	c.(928-930)Atg>Ctg	p.M310L	POLN_ENST00000382865.1_Missense_Mutation_p.M310L|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	310			M -> L (in dbSNP:rs10018786). {ECO:0000269|Ref.3}.		double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTACATTTCATTGTTTGAAAT	0.318								DNA polymerases (catalytic subunits)					G|||	1656	0.330671	0.6029	0.2464	5008	,	,		19994	0.372		0.1243	False		,,,				2504	0.1922				p.M310L		Atlas-SNP	.											.	POLN	82	.	0			c.A928C						PASS	.	G	LEU/MET	2357,2049	564.7+/-381.5	662,1033,508	68	70	69		928	4.6	0	4	dbSNP_119	69	991,7609	772.3+/-407.7	59,873,3368	yes	missense	POLN	NM_181808.2	15	721,1906,3876	GG,GT,TT		11.5233,46.5048,25.742	benign	310/901	2195024	3348,9658	2203	4300	6503	SO:0001583	missense	353497	exon5			ATTTCATTGTTTG	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.928A>C	4.37:g.2195024T>G	ENSP00000435506:p.Met310Leu	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	192	83	0.432292	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	694	0.31776556776556775	299	0.6077235772357723	91	0.2513812154696133	209	0.36538461538461536	95	0.12532981530343007	G	0.006	-2.116122	0.00349	0.534952	0.115233	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	T;T	0.13196	2.61;2.61	5.48	4.64	0.57946	.	0.000000	0.64402	N	0.000016	T	0.00012	0.0000	N	0.00246	-1.78	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42716	-0.9435	9	0.02654	T	1	-6.3637	7.3201	0.26523	0.0855:0.0:0.748:0.1665	rs10018786;rs52806224;rs59046783;rs10018786	310;310	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	L	310;310;1	ENSP00000435506:M310L;ENSP00000372316:M310L	ENSP00000253313:M1L	M	-	1	0	POLN	2164822	0.990000	0.36364	0.034000	0.17996	0.109000	0.19521	2.467000	0.45093	0.701000	0.31803	-0.770000	0.03390	ATG	T|0.710;G|0.290	0.290	strong		0.318	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		G	2195024	T	G	2195024	3	3	23	1	0	0	0	0	1	0	0	0	12207	1493	52	5	1854	5	POLN	4	2195024	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	71	2195024	188959252	1123	17579										
HTT	3064	hgsc.bcm.edu	37	chr4	3148653	3148653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccatcaagatgctttgatTttggccggaaacttgcttgc	10	10	1	2	rs1143646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3148653T>G	ENST00000355072.5	+	25	3418	c.3273T>G	c.(3271-3273)atT>atG	p.I1091M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1091			I -> M (in dbSNP:rs1143646).		anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGCTTTGATTTTGGCCGGAA	0.502													T|||	112	0.0223642	0.0023	0.0231	5008	,	,		19236	0.0		0.0487	False		,,,				2504	0.045				p.I1091M		Atlas-SNP	.											.	HTT	221	.	0			c.T3273G						PASS	.	T	MET/ILE	35,3891		0,35,1928	351	350	351		3273	-4.2	0	4	dbSNP_86	351	403,7927		11,381,3773	yes	missense	HTT	NM_002111.6	10	11,416,5701	GG,GT,TT		4.8379,0.8915,3.5738	benign	1091/3143	3148653	438,11818	1963	4165	6128	SO:0001583	missense	3064	exon25			TTTGATTTTGGCC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3273T>G	4.37:g.3148653T>G	ENSP00000347184:p.Ile1091Met	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	213	99	0.464789	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	50	0.022893772893772892	2	0.0040650406504065045	7	0.019337016574585635	0	0.0	41	0.05408970976253298	T	13.78	2.338654	0.41398	0.008915	0.048379	ENSG00000197386	ENST00000355072	T	0.64803	-0.12	4.68	-4.18	0.03846	Armadillo-type fold (1);	0.398024	0.28057	N	0.016777	T	0.08223	0.0205	L	0.40543	1.245	0.25629	N	0.986323	P	0.35208	0.49	B	0.32624	0.149	T	0.07947	-1.0746	10	0.33940	T	0.23	.	2.2434	0.04025	0.2123:0.3798:0.1117:0.2962	rs1143646;rs3025846;rs17362442;rs17781557;rs17781557	1091	P42858	HD_HUMAN	M	1091	ENSP00000347184:I1091M	ENSP00000347184:I1091M	I	+	3	3	HTT	3118451	0.381000	0.25140	0.023000	0.16930	0.993000	0.82548	-0.425000	0.07017	-0.600000	0.05790	0.460000	0.39030	ATT	T|0.968;G|0.032	0.032	strong		0.502	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3148653	T	G	3148653	3	3	23	1	0	0	0	0	1	0	0	0	7457	1829	64	5	3371	5	HTT	4	3148653	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	953629	3148653	188005623	1124	17580										
HGFAC	3083	hgsc.bcm.edu	37	chr4	3444593	3444593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccaaagtggggggctcccGcccccgcccagggcagttcc	13	19	0	0	rs2073504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3444593G>A	ENST00000382774.3	+	2	367	c.252G>A	c.(250-252)ccG>ccA	p.P84P	HGFAC_ENST00000511533.1_Silent_p.P84P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	84					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGGGCTCCCGCCCCCGCCCA	0.672													G|||	1155	0.230631	0.2057	0.2291	5008	,	,		15322	0.372		0.175	False		,,,				2504	0.1769				p.P84P		Atlas-SNP	.											HGFAC,NS,carcinoma,0,1	HGFAC	69	1	0			c.G252A						PASS	.	G		927,3473	330.4+/-301.5	90,747,1363	43	51	48		252	-1.1	0	4	dbSNP_96	48	1407,7191	265.7+/-286.3	119,1169,3011	yes	coding-synonymous	HGFAC	NM_001528.2		209,1916,4374	AA,AG,GG		16.3643,21.0682,17.9566		84/656	3444593	2334,10664	2200	4299	6499	SO:0001819	synonymous_variant	3083	exon2			GCTCCCGCCCCCG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.252G>A	4.37:g.3444593G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	128	58	0.453125	NM_001528	Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	CCDS3369.1																																																																																			G|0.806;A|0.194	0.194	strong		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3444593	G	A	3444593	2	1	23	1	0	0	0	0	0	0	0	1	7086	1074	38	1		1	HGFAC	4	3444593	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295940	3444593	187709683	1125	17581										
HGFAC	3083	hgsc.bcm.edu	37	chr4	3446091	3446091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaggggggcgaccgctggGcccgcgtgcgccagggccac	20	14	0	0	rs3748034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3446091G>T	ENST00000382774.3	+	6	767	c.652G>T	c.(652-654)Gcc>Tcc	p.A218S	HGFAC_ENST00000511533.1_Missense_Mutation_p.A218S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	218	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.		A -> S (in dbSNP:rs3748034).		proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGACCGCTGGGCCCGCGTGCG	0.677													G|||	670	0.133786	0.0159	0.1124	5008	,	,		15900	0.3085		0.1362	False		,,,				2504	0.1258				p.A218S		Atlas-SNP	.											.	HGFAC	69	.	0			c.G652T						PASS	.	G	SER/ALA	150,4202		3,144,2029	13	15	14		652	3.7	1	4	dbSNP_107	14	1203,7365		78,1047,3159	yes	missense	HGFAC	NM_001528.2	99	81,1191,5188	TT,TG,GG		14.0406,3.4467,10.4721	benign	218/656	3446091	1353,11567	2176	4284	6460	SO:0001583	missense	3083	exon6			CGCTGGGCCCGCG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.652G>T	4.37:g.3446091G>T	ENSP00000372224:p.Ala218Ser	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	62	37	0.596774	NM_001528	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	318	0.14560439560439561	9	0.018292682926829267	40	0.11049723756906077	158	0.2762237762237762	111	0.14643799472295516	G	13.29	2.194105	0.38707	0.034467	0.140406	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.21031	2.03;2.03	3.74	3.74	0.42951	Fibronectin, type I (4);	0.144554	0.45867	D	0.000328	T	0.00012	0.0000	L	0.45581	1.43	0.38956	P	0.04154599999999997	P;B	0.39094	0.659;0.417	B;B	0.40534	0.332;0.179	T	0.48525	-0.9028	9	0.23302	T	0.38	.	13.0704	0.59057	0.0:0.0:1.0:0.0	rs3748034;rs3748034	218;218	D6RAR4;Q04756	.;HGFA_HUMAN	S	218	ENSP00000372224:A218S;ENSP00000421801:A218S	ENSP00000372224:A218S	A	+	1	0	HGFAC	3415889	0.998000	0.40836	1.000000	0.80357	0.591000	0.36615	2.000000	0.40816	1.925000	0.55765	0.462000	0.41574	GCC	G|0.878;T|0.122	0.122	strong		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			T	3446091	G	T	3446091	3	4	23	1	0	0	0	0	1	0	0	0	7086	1203	42	4	674	4	HGFAC	4	3446091	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1498	3446091	187708185	1126	17582										
HGFAC	3083	hgsc.bcm.edu	37	chr4	3446132	3446132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggaacagtgcgagtgcttCgggggccggacctggtgcga	19	9	0	0	rs111368413|rs1987546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3446132C>G	ENST00000382774.3	+	6	808	c.693C>G	c.(691-693)ttC>ttG	p.F231L	HGFAC_ENST00000511533.1_Missense_Mutation_p.F231L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	231	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.		F -> L (in dbSNP:rs1987546). {ECO:0000269|PubMed:15489334}.		proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGAGTGCTTCGGGGGCCGGA	0.677													G|||	3676	0.734026	0.6619	0.7262	5008	,	,		15879	0.9236		0.7197	False		,,,				2504	0.6564				p.F231L		Atlas-SNP	.											.	HGFAC	69	.	0			c.C693G						PASS	.	G	LEU/PHE	2876,1482		989,898,292	11	13	12		693	-2.2	0	4	dbSNP_92	12	5811,2755		2018,1775,490	no	missense	HGFAC	NM_001528.2	22	3007,2673,782	GG,GC,CC		32.162,34.0064,32.784	benign	231/656	3446132	8687,4237	2179	4283	6462	SO:0001583	missense	3083	exon6			GTGCTTCGGGGGC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.693C>G	4.37:g.3446132C>G	ENSP00000372224:p.Phe231Leu	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	76	74	0.973684	NM_001528	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	1683	0.7706043956043956	326	0.6626016260162602	263	0.7265193370165746	536	0.9370629370629371	558	0.7361477572559367	G	0.365	-0.937015	0.02340	0.659936	0.67838	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.37584	1.19;1.19	3.61	-2.24	0.06909	Fibronectin, type I (4);	2.027680	0.02261	N	0.067530	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36089	-0.9762	9	0.26408	T	0.33	.	8.6734	0.34165	0.0:0.4709:0.1813:0.3478	rs1987546;rs60554660	231;231	D6RAR4;Q04756	.;HGFA_HUMAN	L	231	ENSP00000372224:F231L;ENSP00000421801:F231L	ENSP00000372224:F231L	F	+	3	2	HGFAC	3415930	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.770000	0.00371	-0.409000	0.07553	-0.647000	0.03941	TTC	C|0.293;G|0.707	0.707	strong		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			G	3446132	C	G	3446132	3	3	23	1	0	0	0	0	1	0	0	0	7086	883	31	4	715	4	HGFAC	4	3446132	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41	3446132	187708144	1127	17583										
HGFAC	3083	hgsc.bcm.edu	37	chr4	3451109	3451109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggactggatcaacgaccGgatacggcctcccaggcggc	14	13	1	0	rs2498323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3451109G>A	ENST00000382774.3	+	14	2046	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HGFAC_ENST00000511533.1_Missense_Mutation_p.R651Q	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	644	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> Q (in dbSNP:rs2498323).		proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATCAACGACCGGATACGGCCT	0.617													G|||	338	0.067492	0.0915	0.0893	5008	,	,		16261	0.0476		0.0815	False		,,,				2504	0.0256				p.R644Q		Atlas-SNP	.											HGFAC,NS,carcinoma,0,1	HGFAC	69	1	0			c.G1931A						PASS	.	G	GLN/ARG	441,3965	210.5+/-231.0	25,391,1787	51	54	53		1931	1	0.5	4	dbSNP_100	53	860,7738	194.4+/-239.8	45,770,3484	yes	missense	HGFAC	NM_001528.2	43	70,1161,5271	AA,AG,GG		10.0023,10.0091,10.0046	probably-damaging	644/656	3451109	1301,11703	2203	4299	6502	SO:0001583	missense	3083	exon14			ACGACCGGATACG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1931G>A	4.37:g.3451109G>A	ENSP00000372224:p.Arg644Gln	Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	282	135	0.478723	NM_001528	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	152	0.0695970695970696	44	0.08943089430894309	36	0.09944751381215469	13	0.022727272727272728	59	0.07783641160949868	G	10.44	1.351224	0.24512	0.100091	0.100023	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.92595	-3.07;-3.07	4.05	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.582688	0.16495	N	0.211938	T	0.05181	0.0138	N	0.01679	-0.765	0.80722	P	0.0	P;P	0.50528	0.936;0.931	B;B	0.35510	0.204;0.176	T	0.61098	-0.7131	9	0.11485	T	0.65	.	5.0764	0.14634	0.3074:0.161:0.5316:0.0	rs2498323;rs17192693;rs61402798;rs2498323	651;644	D6RAR4;Q04756	.;HGFA_HUMAN	Q	644;651	ENSP00000372224:R644Q;ENSP00000421801:R651Q	ENSP00000372224:R644Q	R	+	2	0	HGFAC	3420907	0.093000	0.21703	0.502000	0.27614	0.139000	0.21198	0.641000	0.24720	0.349000	0.23975	0.561000	0.74099	CGG	G|0.909;A|0.091	0.091	strong		0.617	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3451109	G	A	3451109	3	1	23	1	0	0	0	0	1	0	0	0	7086	1116	39	1	1985	1	HGFAC	4	3451109	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4977	3451109	187703167	1128	17584										
DOK7	285489	hgsc.bcm.edu	37	chr4	3494826	3494826	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacagatgaactgggctcActgctcagcctgccagcagc	11	15	2	2	rs6811856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3494826A>C	ENST00000340083.5	+	7	1178	c.1113A>C	c.(1111-1113)tcA>tcC	p.S371S	DOK7_ENST00000389653.2_Silent_p.S371S|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	371					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACTGGGCTCACTGCTCAGCC	0.701													.|||	1086	0.216853	0.028	0.1427	5008	,	,		12459	0.503		0.2237	False		,,,				2504	0.2229				p.S371S		Atlas-SNP	.											.	DOK7	44	.	0			c.A1113C						PASS	.	A	,	231,4095		12,207,1944	8	10	9		,1113	-7.5	0	4	dbSNP_116	9	1637,6863		177,1283,2790	no	utr-3,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	189,1490,4734	CC,CA,AA		19.2588,5.3398,14.5642	,	,371/505	3494826	1868,10958	2163	4250	6413	SO:0001819	synonymous_variant	285489	exon7			GGGCTCACTGCTC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1113A>C	4.37:g.3494826A>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	50	28	0.56	NM_173660	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			A|0.734;C|0.266	0.266	strong		0.701	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		C	3494826	A	C	3494826	2	2	23	1	0	0	0	0	0	0	0	1	4702	146	6	5		5	DOK7	4	3494826	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	43717	3494826	187659450	1129	17585			5	74	2105665	3	3	73	N	G_C_A	6.07808e-05
DOK7	285489	hgsc.bcm.edu	37	chr4	3494847	3494847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctcagcctgccagcagcGggggcccccgagcccagcct	13	19	1	0	rs6831659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3494847G>A	ENST00000340083.5	+	7	1199	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	DOK7_ENST00000389653.2_Silent_p.A378A|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	378					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCCAGCAGCGGGGGCCCCCG	0.677													.|||	1076	0.214856	0.0272	0.1354	5008	,	,		13435	0.505		0.2207	False		,,,				2504	0.2198				p.A378A		Atlas-SNP	.											.	DOK7	44	.	0			c.G1134A						PASS	.	G	,	206,4112		9,188,1962	8	10	9		,1134	-7.5	0	4	dbSNP_116	9	1445,7043		122,1201,2921	no	utr-3,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	131,1389,4883	AA,AG,GG		17.024,4.7707,12.8924	,	,378/505	3494847	1651,11155	2159	4244	6403	SO:0001819	synonymous_variant	285489	exon7			AGCAGCGGGGGCC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1134G>A	4.37:g.3494847G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	65	38	0.584615	NM_173660	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			G|0.740;A|0.260	0.260	strong		0.677	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		A	3494847	G	A	3494847	2	1	23	1	0	0	0	0	0	0	0	1	4702	1103	39	1		1	DOK7	4	3494847	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21	3494847	187659429	1130	17586			5	74	2105665	3	3	73	N	G_C_A	6.07808e-05
DOK7	285489	hgsc.bcm.edu	37	chr4	3494898	3494898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcccgggacagtcgagtaCcaggtgcccacctccctgcg	12	17	0	0	rs6850908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:3494898C>T	ENST00000340083.5	+	7	1250	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	DOK7_ENST00000389653.2_Silent_p.Y395Y|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	395					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGTCGAGTACCAGGTGCCCA	0.692													.|||	1100	0.219649	0.0386	0.1441	5008	,	,		14813	0.502		0.2237	False		,,,				2504	0.2229				p.Y395Y		Atlas-SNP	.											DOK7,NS,carcinoma,0,1	DOK7	44	1	0			c.C1185T						PASS	.	C	,	291,4089		15,261,1914	15	15	15		,1185	2.8	1	4	dbSNP_116	15	1780,6802		194,1392,2705	yes	utr-3,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	209,1653,4619	TT,TC,CC		20.7411,6.6438,15.9775	,	,395/505	3494898	2071,10891	2190	4291	6481	SO:0001819	synonymous_variant	285489	exon7			CGAGTACCAGGTG	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1185C>T	4.37:g.3494898C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	93	45	0.483871	NM_173660	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			C|0.794;T|0.206	0.206	strong		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		T	3494898	C	T	3494898	2	4	23	1	0	0	0	0	0	0	0	1	4702	518	18	2		2	DOK7	4	3494898	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	51	3494898	187659378	1131	17587			5	74	2105665	3	3	73	N	G_C_A	6.07808e-05
OTOP1	133060	hgsc.bcm.edu	37	chr4	4199760	4199760	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaaggggtagaggtagtaGatcccgtgggagatggcagt	18	4	0	4	rs17697262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:4199760G>A	ENST00000296358.4	-	5	825	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	267					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGGTAGTAGATCCCGTGGG	0.537													G|||	431	0.0860623	0.0197	0.1009	5008	,	,		19284	0.0218		0.1899	False		,,,				2504	0.1247				p.I267I		Atlas-SNP	.											OTOP1,NS,carcinoma,-2,1	OTOP1	118	1	0			c.C801T						scavenged	.	G		274,4132	154.8+/-188.1	9,256,1938	73	61	65		801	-3	0.3	4	dbSNP_123	65	1940,6660	339.4+/-323.1	222,1496,2582	no	coding-synonymous	OTOP1	NM_177998.1		231,1752,4520	AA,AG,GG		22.5581,6.2188,17.0229		267/613	4199760	2214,10792	2203	4300	6503	SO:0001819	synonymous_variant	133060	exon5			GTAGTAGATCCCG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.801C>T	4.37:g.4199760G>A		Somatic	262	2	0.00763359		WXS	Illumina HiSeq	Phase_I	244	106	0.434426	NM_177998	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			G|0.855;A|0.145	0.145	strong		0.537	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4199760	G	A	4199760	2	1	23	1	0	0	0	0	0	0	0	1	11305	932	33	2		2	OTOP1	4	4199760	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	704862	4199760	186954516	1132	17588										
EVC2	132884	hgsc.bcm.edu	37	chr4	5577986	5577986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccactgctgatgttgctccaGtaatgtctggctcttgctca	9	12	3	1	rs112554914	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:5577986G>A	ENST00000344408.5	-	18	3306	c.3253C>T	c.(3253-3255)Ctg>Ttg	p.L1085L	EVC2_ENST00000310917.2_Silent_p.L1005L|EVC2_ENST00000344938.1_Silent_p.L1085L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1085					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGTTGCTCCAGTAATGTCTGG	0.572													G|||	138	0.0275559	0.0	0.0187	5008	,	,		18039	0.0		0.0736	False		,,,				2504	0.0521				p.L1085L		Atlas-SNP	.											.	EVC2	202	.	0			c.C3253T						PASS	.	G	,	63,4343	58.1+/-94.6	0,63,2140	120	114	116		3013,3253	3.5	0.9	4	dbSNP_132	116	604,7996	158.9+/-212.3	26,552,3722	no	coding-synonymous,coding-synonymous	EVC2	NM_001166136.1,NM_147127.4	,	26,615,5862	AA,AG,GG		7.0233,1.4299,5.1284	,	1005/1229,1085/1309	5577986	667,12339	2203	4300	6503	SO:0001819	synonymous_variant	132884	exon18			GCTCCAGTAATGT	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3253C>T	4.37:g.5577986G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	136	59	0.433824	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																			G|0.954;A|0.046	0.046	strong		0.572	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5577986	G	A	5577986	2	1	23	1	0	0	0	0	0	0	0	1	5286	1020	36	2		2	EVC2	4	5577986	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1378226	5577986	185576290	1133	17589										
EVC2	132884	hgsc.bcm.edu	37	chr4	5642274	5642274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtttcagcaactcttctgcTtcctccattgccatcatctc	4	16	5	0	rs13131655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:5642274T>C	ENST00000344408.5	-	10	1490	c.1437A>G	c.(1435-1437)gaA>gaG	p.E479E	EVC2_ENST00000310917.2_Silent_p.E399E|EVC2_ENST00000344938.1_Silent_p.E479E	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	479					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACTCTTCTGCTTCCTCCATTG	0.463													T|||	1152	0.230032	0.5318	0.1542	5008	,	,		22239	0.001		0.2237	False		,,,				2504	0.1186				p.E479E		Atlas-SNP	.											.	EVC2	202	.	0			c.A1437G						PASS	.	T	,	2027,2379	564.7+/-381.5	477,1073,653	411	346	368		1197,1437	0	0.9	4	dbSNP_121	368	1809,6791	325.9+/-317.1	185,1439,2676	no	coding-synonymous,coding-synonymous	EVC2	NM_001166136.1,NM_147127.4	,	662,2512,3329	CC,CT,TT		21.0349,46.0054,29.4941	,	399/1229,479/1309	5642274	3836,9170	2203	4300	6503	SO:0001819	synonymous_variant	132884	exon10			TTCTGCTTCCTCC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1437A>G	4.37:g.5642274T>C		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	192	74	0.385417	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																			T|0.716;C|0.284	0.284	strong		0.463	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		C	5642274	T	C	5642274	2	2	23	1	0	0	0	0	0	0	0	1	5286	1606	56	3		3	EVC2	4	5642274	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64288	5642274	185512002	1134	17590										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6610889	6610889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctggagtaccacgtcaacGgggatgtgaaacagggcccc	13	12	1	1	rs61733402	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:6610889G>A	ENST00000285599.3	+	12	1906	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	MAN2B2_ENST00000504248.1_Missense_Mutation_p.G573R|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	624					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGTCAACGGGGATGTGAA	0.572													G|||	181	0.0361422	0.0061	0.0389	5008	,	,		21881	0.001		0.0885	False		,,,				2504	0.0573				p.G624R		Atlas-SNP	.											.	MAN2B2	80	.	0			c.G1870A						PASS	.	G	ARG/GLY	79,4327	69.2+/-107.0	0,79,2124	102	90	94		1870	0.3	0	4	dbSNP_129	94	818,7782	190.0+/-236.6	46,726,3528	yes	missense	MAN2B2	NM_015274.1	125	46,805,5652	AA,AG,GG		9.5116,1.793,6.8968	probably-damaging	624/1010	6610889	897,12109	2203	4300	6503	SO:0001583	missense	23324	exon12			GTCAACGGGGATG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1870G>A	4.37:g.6610889G>A	ENSP00000285599:p.Gly624Arg	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	160	74	0.4625	NM_015274	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	92	0.04212454212454213	6	0.012195121951219513	15	0.04143646408839779	0	0.0	71	0.09366754617414248	G	23.1	4.376100	0.82682	0.01793	0.095116	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.79141	-1.24;-1.24	4.36	0.289	0.15723	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.520725	0.20150	N	0.098165	T	0.11580	0.0282	L	0.60455	1.87	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.991	D;D;P	0.68353	0.957;0.936;0.763	T	0.48502	-0.9030	10	0.62326	D	0.03	-0.1459	5.3779	0.16176	0.1494:0.0:0.579:0.2715	rs61733402	573;624;624	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	R	624;573	ENSP00000285599:G624R;ENSP00000423129:G573R	ENSP00000285599:G624R	G	+	1	0	MAN2B2	6661790	0.985000	0.35326	0.000000	0.03702	0.904000	0.53231	2.922000	0.48860	-0.356000	0.08187	0.313000	0.20887	GGG	G|0.936;A|0.064	0.064	strong		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6610889	G	A	6610889	3	1	23	1	0	0	0	0	1	0	0	0	9217	1116	39	1	1916	1	MAN2B2	4	6610889	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	968615	6610889	184543387	1135	17591										
SH3TC1	54436	hgsc.bcm.edu	37	chr4	8229140	8229140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcggctgtgcagcaggagGctcaagctgtcccaggcccg	17	13	1	0	rs141562329	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:8229140G>T	ENST00000245105.3	+	12	1786	c.1719G>T	c.(1717-1719)agG>agT	p.R573S	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Missense_Mutation_p.R497S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	573										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGCAGGAGGCTCAAGCTGT	0.692													G|||	13	0.00259585	0.0	0.0	5008	,	,		15676	0.001		0.003	False		,,,				2504	0.0092				p.R573S	NSCLC(145;2298 2623 35616 37297)	Atlas-SNP	.											.	SH3TC1	105	.	0			c.G1719T						PASS	.	G	SER/ARG	0,4340		0,0,2170	35	40	38		1719	2.4	0.8	4	dbSNP_134	38	18,8450		0,18,4216	yes	missense	SH3TC1	NM_018986.3	110	0,18,6386	TT,TG,GG		0.2126,0.0,0.1405	possibly-damaging	573/1337	8229140	18,12790	2170	4234	6404	SO:0001583	missense	54436	exon12			CAGGAGGCTCAAG	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1719G>T	4.37:g.8229140G>T	ENSP00000245105:p.Arg573Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	40	0.430108	NM_018986	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	15.49	2.849206	0.51270	0.0	0.002126	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.79845	-1.31;-1.31	4.51	2.42	0.29668	Tetratricopeptide-like helical (1);	0.373920	0.30003	N	0.010654	T	0.79639	0.4480	L	0.49126	1.545	0.09310	N	1	P	0.48911	0.917	P	0.50314	0.637	T	0.71394	-0.4606	10	0.66056	D	0.02	-17.1056	10.2336	0.43268	0.2842:0.0:0.7158:0.0	.	573	Q8TE82	S3TC1_HUMAN	S	311;573;497;402	ENSP00000245105:R573S;ENSP00000441045:R497S	ENSP00000245105:R573S	R	+	3	2	SH3TC1	8280040	0.976000	0.34144	0.808000	0.32385	0.871000	0.50021	0.768000	0.26590	0.892000	0.36259	-0.254000	0.11334	AGG	G|0.999;T|0.001	0.001	strong		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8229140	G	T	8229140	3	4	23	1	0	0	0	0	1	0	0	0	14261	1194	42	4	1761	4	SH3TC1	4	8229140	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1618251	8229140	182925136	1136	17592										
CPZ	8532	hgsc.bcm.edu	37	chr4	8603117	8603117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcctgcgggaggtctgccAgcccgccttcgacgccattg	15	15	1	0	rs35993494	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:8603117A>T	ENST00000360986.4	+	3	563	c.389A>T	c.(388-390)cAg>cTg	p.Q130L	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000315782.6_Missense_Mutation_p.Q119L|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	130	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		Q -> L (in dbSNP:rs35993494).		proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGGTCTGCCAGCCCGCCTTC	0.682													A|||	506	0.101038	0.0408	0.0749	5008	,	,		16996	0.0446		0.162	False		,,,				2504	0.1963				p.Q130L		Atlas-SNP	.											.	CPZ	95	.	0			c.A389T						PASS	.	A	LEU/GLN,,LEU/GLN	321,4077		9,303,1887	24	28	27		389,,356	0.8	1	4	dbSNP_126	27	1571,7021		157,1257,2882	yes	missense,utr-5,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	113,,113	166,1560,4769	TT,TA,AA		18.2845,7.2988,14.5651	benign,,benign	130/653,,119/642	8603117	1892,11098	2199	4296	6495	SO:0001583	missense	8532	exon3			TCTGCCAGCCCGC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.389A>T	4.37:g.8603117A>T	ENSP00000354255:p.Gln130Leu	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	11	5	0.454545	NM_001014447	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	196	0.08974358974358974	20	0.04065040650406504	29	0.08011049723756906	22	0.038461538461538464	125	0.16490765171503957	A	5.045	0.193960	0.09599	0.072988	0.182845	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.75821	-0.97;-0.97	3.41	0.837	0.18896	Frizzled domain (5);	0.788238	0.11423	N	0.565573	T	0.00109	0.0003	N	0.05441	-0.05	0.24497	P	0.99427309	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.05194	-1.0900	9	0.02654	T	1	-21.0897	4.2433	0.10660	0.3522:0.0:0.1083:0.5395	rs35993494;rs61734028	119;130	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	130;119	ENSP00000354255:Q130L;ENSP00000315074:Q119L	ENSP00000315074:Q119L	Q	+	2	0	CPZ	8654017	0.176000	0.23096	0.977000	0.42913	0.179000	0.23085	0.639000	0.24690	-0.007000	0.14345	0.459000	0.35465	CAG	A|0.884;T|0.116	0.116	strong		0.682	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8603117	A	T	8603117	3	4	23	1	0	0	0	0	1	0	0	0	3839	188	7	5	399	5	CPZ	4	8603117	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	373977	8603117	182551159	1137	17593										
SLC2A9	56606	hgsc.bcm.edu	37	chr4	9922167	9922167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctctacctcttgggaaaCgtctgctttacccaagaacg	7	14	3	1	rs16890979	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:9922167C>T	ENST00000264784.3	-	7	897	c.844G>A	c.(844-846)Gtt>Att	p.V282I	RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000309065.3_Missense_Mutation_p.V253I|SLC2A9_ENST00000506583.1_Missense_Mutation_p.V253I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	282			V -> I (in dbSNP:rs16890979). {ECO:0000269|PubMed:18327256}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTTGGGAAACGTCTGCTTTA	0.577													C|||	1321	0.263778	0.4803	0.3818	5008	,	,		21107	0.0129		0.2137	False		,,,				2504	0.1973				p.V282I		Atlas-SNP	.											.	SLC2A9	158	.	0			c.G844A	GRCh37	CM086145	SLC2A9	M	rs16890979	PASS	.	C	ILE/VAL,ILE/VAL	1826,2580	527.1+/-372.1	389,1048,766	55	49	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	757,844	1.6	0	4	dbSNP_123	51	1898,6702	333.8+/-320.7	220,1458,2622	yes	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	29,29	609,2506,3388	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	22.0698,41.4435,28.6329	benign,benign	253/512,282/541	9922167	3724,9282	2203	4300	6503	SO:0001583	missense	56606	exon7			GGGAAACGTCTGC	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.844G>A	4.37:g.9922167C>T	ENSP00000264784:p.Val282Ile	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	163	59	0.361963	NM_020041	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	487	0.222985347985348	212	0.43089430894308944	120	0.3314917127071823	3	0.005244755244755245	152	0.20052770448548812	C	8.913	0.959077	0.18507	0.414435	0.220698	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.75367	-0.93;-0.93;-0.93	5.2	1.61	0.23674	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127893	0.52532	N	0.000078	T	0.00012	0.0000	L	0.49455	1.56	0.37213	P	0.09511800000000004	P;P	0.39883	0.693;0.613	B;B	0.35607	0.114;0.206	T	0.35076	-0.9803	8	.	.	.	.	9.6932	0.40141	0.0:0.7308:0.0:0.2692	rs16890979;rs52793226;rs16890979	253;282	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	I	253;282;253	ENSP00000422209:V253I;ENSP00000264784:V282I;ENSP00000311383:V253I	.	V	-	1	0	SLC2A9	9531265	0.855000	0.29742	0.001000	0.08648	0.002000	0.02628	1.648000	0.37271	-0.007000	0.14345	-0.145000	0.13849	GTT	C|0.737;T|0.263	0.263	strong		0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			T	9922167	C	T	9922167	3	4	23	1	0	0	0	0	1	0	0	0	14552	536	19	1	802	1	SLC2A9	4	9922167	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1319050	9922167	181232109	1138	17594										
ZNF518B	85460	hgsc.bcm.edu	37	chr4	10447168	10447168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatttgcatggagagagaaaCctgacagttggtctgaccac	11	8	1	4	rs66538112	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:10447168C>G	ENST00000326756.3	-	3	1223	c.785G>C	c.(784-786)gGt>gCt	p.G262A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	262					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAGAGAGAAACCTGACAGTTG	0.368													C|||	957	0.191094	0.0764	0.2767	5008	,	,		21647	0.2063		0.2435	False		,,,				2504	0.2157				p.G262A		Atlas-SNP	.											.	ZNF518B	116	.	0			c.G785C						PASS	.	C	ALA/GLY	486,3920	228.5+/-243.3	21,444,1738	218	213	215		785	1.2	0	4	dbSNP_130	215	2225,6375	379.5+/-339.3	307,1611,2382	yes	missense	ZNF518B	NM_053042.2	60	328,2055,4120	GG,GC,CC		25.8721,11.0304,20.8442	benign	262/1075	10447168	2711,10295	2203	4300	6503	SO:0001583	missense	85460	exon3			GAGAAACCTGACA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.785G>C	4.37:g.10447168C>G	ENSP00000317614:p.Gly262Ala	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	90	43	0.477778	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	434	0.1987179487179487	46	0.09349593495934959	83	0.2292817679558011	119	0.20804195804195805	186	0.24538258575197888	C	14.38	2.518259	0.44763	0.110304	0.258721	ENSG00000178163	ENST00000326756	T	0.01414	4.92	6.17	1.25	0.21368	.	0.855383	0.09877	N	0.744208	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34279	-0.9835	9	0.11182	T	0.66	-6.6905	6.0007	0.19519	0.0:0.4868:0.2423:0.2709	.	262	Q9C0D4	Z518B_HUMAN	A	262	ENSP00000317614:G262A	ENSP00000317614:G262A	G	-	2	0	ZNF518B	10056266	0.000000	0.05858	0.027000	0.17364	0.751000	0.42716	0.168000	0.16622	0.486000	0.27676	0.655000	0.94253	GGT	C|0.795;G|0.205	0.205	strong		0.368	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		G	10447168	C	G	10447168	3	3	23	1	0	0	0	0	1	0	0	0	17960	507	18	4	2443	4	ZNF518B	4	10447168	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	525001	10447168	180707108	1139	17595										
BOD1L	259282	hgsc.bcm.edu	37	chr4	13601337	13601337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcactgccaacacgggacccGgttctttgcctcccctgact	8	17	2	1	rs3733557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:13601337G>A	ENST00000040738.5	-	10	7322	c.7187C>T	c.(7186-7188)cCg>cTg	p.P2396L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2396			P -> L (in dbSNP:rs3733557). {ECO:0000269|PubMed:10718198}.			nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2396L(1)									CACGGGACCCGGTTCTTTGCC	0.597													G|||	544	0.108626	0.0129	0.0908	5008	,	,		18586	0.1746		0.1352	False		,,,				2504	0.1554				p.P2396L		Atlas-SNP	.											BOD1L,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.C7187T						scavenged	.	G	LEU/PRO	142,4264	98.9+/-137.6	2,138,2063	132	127	129		7187	-10	0	4	dbSNP_107	129	1281,7319	255.9+/-280.6	86,1109,3105	yes	missense	BOD1L	NM_148894.2	98	88,1247,5168	AA,AG,GG		14.8953,3.2229,10.9411	benign	2396/3052	13601337	1423,11583	2203	4300	6503	SO:0001583	missense	259282	exon10			GGACCCGGTTCTT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7187C>T	4.37:g.13601337G>A	ENSP00000040738:p.Pro2396Leu	Somatic	69	1	0.0144928		WXS	Illumina HiSeq	Phase_I	80	79	0.9875	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	244	0.11172161172161173	10	0.02032520325203252	40	0.11049723756906077	98	0.17132867132867133	96	0.1266490765171504	G	8.783	0.928692	0.18131	0.032229	0.148953	ENSG00000038219	ENST00000040738	T	0.06218	3.33	4.98	-9.96	0.00443	.	5.307370	0.00843	N	0.001765	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40156	-0.9578	9	0.27082	T	0.32	.	3.1753	0.06566	0.1527:0.1914:0.4514:0.2045	rs3733557;rs17346523;rs52797579;rs61508626;rs3733557	2396	Q8NFC6	BOD1L_HUMAN	L	2396	ENSP00000040738:P2396L	ENSP00000040738:P2396L	P	-	2	0	BOD1L	13210435	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.906000	0.01590	-1.653000	0.01500	-0.459000	0.05422	CCG	G|0.894;A|0.106	0.106	strong		0.597	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13601337	G	A	13601337	3	1	23	1	0	0	0	0	1	0	0	0	1483	1116	39	1	2036	1	BOD1L	4	13601337	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3154169	13601337	177552939	1140	17596										
BOD1L	259282	hgsc.bcm.edu	37	chr4	13602793	13602793	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttccacatgctctaccaCagtaccaatctgactgtccc	5	16	2	1	rs199927242		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:13602793C>G	ENST00000040738.5	-	10	5866	c.5731G>C	c.(5731-5733)Gtg>Ctg	p.V1911L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1911						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCTCTACCACAGTACCAATC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23179	0.0		0.0	False		,,,				2504	0.0				p.V1911L		Atlas-SNP	.											.	.	.	.	0			c.G5731C						PASS	.	C	LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	119	118	118		5731	2.8	0	4		118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOD1L	NM_148894.2	32	0,2,6501	GG,GC,CC		0.0116,0.0227,0.0154	benign	1911/3052	13602793	2,13004	2203	4300	6503	SO:0001583	missense	259282	exon10			CTACCACAGTACC	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5731G>C	4.37:g.13602793C>G	ENSP00000040738:p.Val1911Leu	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	147	68	0.462585	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292461	0.10567	2.27E-4	1.16E-4	ENSG00000038219	ENST00000040738	T	0.08807	3.05	4.79	2.8	0.32819	.	0.896444	0.09441	N	0.801789	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.19148	0.024	T	0.40232	-0.9574	10	0.33940	T	0.23	0.4353	7.6976	0.28604	0.0:0.7633:0.0:0.2367	.	1911	Q8NFC6	BOD1L_HUMAN	L	1911	ENSP00000040738:V1911L	ENSP00000040738:V1911L	V	-	1	0	BOD1L	13211891	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.762000	0.26503	0.812000	0.34326	0.561000	0.74099	GTG	.	.	weak		0.443	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13602793	C	G	13602793	3	3	23	1	0	0	0	0	1	0	0	0	1483	478	17	4	3492	4	BOD1L	4	13602793	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1456	13602793	177551483	1141	17597										
CPEB2	132864	hgsc.bcm.edu	37	chr4	15005641	15005641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccccgactcagagaacggCttctaccccgggctgccgtc	11	17	2	1	rs142927413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:15005641C>T	ENST00000507071.1	+	1	120	c.33C>T	c.(31-33)ggC>ggT	p.G11G	CPEB2_ENST00000538197.1_Silent_p.G448G|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Silent_p.G448G|CPEB2_ENST00000259997.5_Silent_p.G11G|CPEB2_ENST00000382401.3_Silent_p.G11G|CPEB2_ENST00000442003.2_Silent_p.G448G|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_Silent_p.G11G|CPEB2_ENST00000382395.3_Silent_p.G11G			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	11	Pro-rich.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CAGAGAACGGCTTCTACCCCG	0.741													c|||	249	0.0497204	0.0227	0.0144	5008	,	,		4124	0.0268		0.0328	False		,,,				2504	0.1524				p.G448G		Atlas-SNP	.											.	CPEB2	77	.	0			c.C1344T						PASS	.		,,,,,	62,3556		1,60,1748	9	10	10		1344,1344,1344,1344,1344,1344	1	1	4	dbSNP_134	10	193,7011		2,189,3411	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CPEB2	NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2	,,,,,	3,249,5159	TT,TC,CC		2.6791,1.7137,2.3563	,,,,,	448/1008,448/1035,448/1005,448/1000,448/1027,448/997	15005641	255,10567	1809	3602	5411	SO:0001819	synonymous_variant	132864	exon1			GAACGGCTTCTAC	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.33C>T	4.37:g.15005641C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	36	16	0.444444	NM_001177381	E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Silent	SNP	ENST00000507071.1	37																																																																																				C|0.977;T|0.023	0.023	strong		0.741	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		T	15005641	C	T	15005641	2	4	23	1	0	0	0	0	0	0	0	1	3801	784	28	2		2	CPEB2	4	15005641	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1402848	15005641	176148635	1142	17598										
C1QTNF7	114905	hgsc.bcm.edu	37	chr4	15443951	15443951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaggagaacaaggggaccCggggctgcctggagtttgca	17	9	0	2	rs201630756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:15443951C>T	ENST00000444304.2	+	3	724	c.398C>T	c.(397-399)cCg>cTg	p.P133L	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P133L|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.P140L			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	133	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAAGGGGACCCGGGGCTGCCT	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16969	0.0		0.0	False		,,,				2504	0.0				p.P140L		Atlas-SNP	.											C1QTNF7,NS,carcinoma,-1,1	C1QTNF7	36	1	0			c.C419T						scavenged	.	C	LEU/PRO,LEU/PRO,LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	153	160	158		419,398,398	4.7	1	4		158	0,8600		0,0,4300	no	missense,missense,missense	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	98,98,98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	140/297,133/290,133/290	15443951	2,13004	2203	4300	6503	SO:0001583	missense	114905	exon3			GGGACCCGGGGCT	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.398C>T	4.37:g.15443951C>T	ENSP00000388914:p.Pro133Leu	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	150	2	0.0133333	NM_001135170	B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	CCDS3414.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.72	2.321640	0.41096	4.54E-4	0.0	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000429690;ENST00000444304	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.54	4.68	0.58851	.	0.279351	0.34025	N	0.004328	D	0.92004	0.7467	M	0.73598	2.24	0.58432	D	0.999997	B	0.23591	0.088	B	0.20577	0.03	D	0.88962	0.3394	10	0.20519	T	0.43	.	16.0757	0.80967	0.0:0.7747:0.2253:0.0	.	133	Q9BXJ2	C1QT7_HUMAN	L	140;140;133;133	ENSP00000380812:P140L;ENSP00000295297:P140L;ENSP00000410722:P133L;ENSP00000388914:P133L	ENSP00000295297:P140L	P	+	2	0	C1QTNF7	15053049	0.924000	0.31332	0.998000	0.56505	0.993000	0.82548	1.804000	0.38873	2.619000	0.88677	0.655000	0.94253	CCG	C|1.000;T|0.000	0.000	strong		0.517	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			T	15443951	C	T	15443951	3	4	23	1	0	0	0	0	1	0	0	0	1968	652	23	1	429	1	C1QTNF7	4	15443951	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	438310	15443951	175710325	1143	17599										
CC2D2A	57545	hgsc.bcm.edu	37	chr4	15569018	15569018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaaattccagcagccgtcGaggtcttcaaggatgttcag	11	10	3	0	rs73125627	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:15569018G>A	ENST00000503292.1	+	26	3381	c.3201G>A	c.(3199-3201)tcG>tcA	p.S1067S	CC2D2A_ENST00000389652.5_Silent_p.S1018S|CC2D2A_ENST00000413206.1_Silent_p.S1067S|CC2D2A_ENST00000424120.1_Silent_p.S1067S	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1067	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.S1018S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGCAGCCGTCGAGGTCTTCAA	0.433													G|||	760	0.151757	0.1051	0.1873	5008	,	,		19807	0.0724		0.2475	False		,,,				2504	0.1728				p.S1067S		Atlas-SNP	.											CC2D2A,NS,carcinoma,0,1	CC2D2A	158	1	1	Substitution - coding silent(1)	prostate(1)	c.G3201A						PASS	.	G		483,3519		27,429,1545	63	61	62		3201	-10.8	0	4	dbSNP_130	62	2063,6275		267,1529,2373	no	coding-synonymous	CC2D2A	NM_001080522.2		294,1958,3918	AA,AG,GG		24.7421,12.069,20.6321		1067/1621	15569018	2546,9794	2001	4169	6170	SO:0001819	synonymous_variant	57545	exon26			GCCGTCGAGGTCT	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3201G>A	4.37:g.15569018G>A		Somatic	474	1	0.0021097		WXS	Illumina HiSeq	Phase_I	437	213	0.487414	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																			G|0.819;A|0.181	0.181	strong		0.433	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		A	15569018	G	A	15569018	2	1	23	1	0	0	0	0	0	0	0	1	2728	1045	37	1		1	CC2D2A	4	15569018	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	125067	15569018	175585258	1144	17600										
FGFBP2	83888	hgsc.bcm.edu	37	chr4	15964574	15964574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgttgcggcagtcgacaCgaagccagacttctccagca	11	13	1	1	rs62617788	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:15964574C>T	ENST00000259989.6	-	1	285	c.179G>A	c.(178-180)cGt>cAt	p.R60H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	60						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCAGTCGACACGAAGCCAGAC	0.577													C|||	53	0.0105831	0.0008	0.0159	5008	,	,		20019	0.0		0.0338	False		,,,				2504	0.0072				p.R60H		Atlas-SNP	.											.	FGFBP2	22	.	0			c.G179A						PASS	.	C	HIS/ARG	25,4381	24.3+/-50.5	0,25,2178	63	55	58		179	0	0	4	dbSNP_129	58	288,8312	87.9+/-150.2	3,282,4015	yes	missense	FGFBP2	NM_031950.3	29	3,307,6193	TT,TC,CC		3.3488,0.5674,2.4066	benign	60/224	15964574	313,12693	2203	4300	6503	SO:0001583	missense	83888	exon1			TCGACACGAAGCC	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.179G>A	4.37:g.15964574C>T	ENSP00000259989:p.Arg60His	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	27	13	0.481481	NM_031950		Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	32	0.014652014652014652	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	24	0.0316622691292876	C	9.649	1.140959	0.21205	0.005674	0.033488	ENSG00000137441	ENST00000259989	T	0.15372	2.43	2.98	0.029	0.14161	.	0.156992	0.36628	N	0.002500	T	0.03136	0.0092	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.19516	-1.0303	10	0.54805	T	0.06	-4.4055	3.8097	0.08792	0.1881:0.5955:0.0:0.2164	rs62617788	60	Q9BYJ0	FGFP2_HUMAN	H	60	ENSP00000259989:R60H	ENSP00000259989:R60H	R	-	2	0	FGFBP2	15573672	0.650000	0.27331	0.000000	0.03702	0.000000	0.00434	2.247000	0.43151	-0.589000	0.05874	-0.851000	0.03033	CGT	C|0.978;T|0.022	0.022	strong		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		T	15964574	C	T	15964574	3	4	23	1	0	0	0	0	1	0	0	0	5861	536	19	1	496	1	FGFBP2	4	15964574	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	395556	15964574	175189702	1145	17601										
PROM1	8842	hgsc.bcm.edu	37	chr4	16077401	16077401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagctttatgggagtcttgGgtctcataatttgttgcagg	12	7	2	0	rs10033086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:16077401G>A	ENST00000510224.1	-	2	377	c.129C>T	c.(127-129)acC>acT	p.T43T	PROM1_ENST00000539194.1_Silent_p.T43T|PROM1_ENST00000508167.1_Silent_p.T43T|PROM1_ENST00000543373.1_Silent_p.T43T|PROM1_ENST00000505450.1_Silent_p.T43T|PROM1_ENST00000540805.1_Silent_p.T43T|PROM1_ENST00000447510.2_Silent_p.T43T			O43490	PROM1_HUMAN	prominin 1	43					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GGGAGTCTTGGGTCTCATAAT	0.483													G|||	420	0.0838658	0.2632	0.0346	5008	,	,		19188	0.0		0.0388	False		,,,				2504	0.0092				p.T43T		Atlas-SNP	.											PROM1,bladder,carcinoma,-2,1	PROM1	91	1	0			c.C129T						PASS	.	G	,,,,,,	875,2989		108,659,1165	71	71	71		129,129,129,129,129,129,129	0.6	0.1	4	dbSNP_119	71	207,8095		1,205,3945	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	,,,,,,	109,864,5110	AA,AG,GG		2.4934,22.6449,8.8936	,,,,,,	43/857,43/857,43/843,43/835,43/834,43/826,43/866	16077401	1082,11084	1932	4151	6083	SO:0001819	synonymous_variant	8842	exon2			GTCTTGGGTCTCA	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.129C>T	4.37:g.16077401G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	139	71	0.510791	NM_001145847	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																			G|0.912;A|0.088	0.088	strong		0.483	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		A	16077401	G	A	16077401	2	1	23	1	0	0	0	0	0	0	0	1	12555	1219	43	2		2	PROM1	4	16077401	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	112827	16077401	175076875	1146	17602										
PROM1	8842	hgsc.bcm.edu	37	chr4	16077515	16077515	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagcagcaacagggagccGagtacgagggccatagctag	14	12	0	0	rs10033189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:16077515G>A	ENST00000510224.1	-	2	263	c.15C>T	c.(13-15)ctC>ctT	p.L5L	PROM1_ENST00000539194.1_Silent_p.L5L|PROM1_ENST00000508167.1_Silent_p.L5L|PROM1_ENST00000543373.1_Silent_p.L5L|PROM1_ENST00000505450.1_Silent_p.L5L|PROM1_ENST00000540805.1_Silent_p.L5L|PROM1_ENST00000447510.2_Silent_p.L5L			O43490	PROM1_HUMAN	prominin 1	5					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAGGGAGCCGAGTACGAGGG	0.547													G|||	276	0.0551118	0.1581	0.0274	5008	,	,		18625	0.0		0.0388	False		,,,				2504	0.0092				p.L5L		Atlas-SNP	.											.	PROM1	91	.	0			c.C15T						PASS	.	G	,,,,,,	558,3540		43,472,1534	29	30	29		15,15,15,15,15,15,15	-4.3	0	4	dbSNP_119	29	196,8194		1,194,4000	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	,,,,,,	44,666,5534	AA,AG,GG		2.3361,13.6164,6.0378	,,,,,,	5/857,5/857,5/843,5/835,5/834,5/826,5/866	16077515	754,11734	2049	4195	6244	SO:0001819	synonymous_variant	8842	exon2			GGAGCCGAGTACG	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.15C>T	4.37:g.16077515G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	87	56	0.643678	NM_001145847	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																			G|0.945;A|0.055	0.055	strong		0.547	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		A	16077515	G	A	16077515	2	1	23	1	0	0	0	0	0	0	0	1	12555	1045	37	1		1	PROM1	4	16077515	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	114	16077515	175076761	1147	17603										
QDPR	5860	hgsc.bcm.edu	37	chr4	17506042	17506042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcccatcctccagcaacGcaaagaattgcatccacctt	6	17	0	1	rs12645938	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:17506042G>A	ENST00000281243.5	-	3	434	c.255C>T	c.(253-255)tgC>tgT	p.C85C	QDPR_ENST00000513615.1_Silent_p.C85C|QDPR_ENST00000508623.1_Silent_p.C85C|QDPR_ENST00000428702.2_Silent_p.C54C	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	85					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCAGCAACGCAAAGAATTG	0.468													G|||	165	0.0329473	0.0023	0.0375	5008	,	,		19684	0.0536		0.0477	False		,,,				2504	0.0348				p.C85C		Atlas-SNP	.											.	QDPR	22	.	0			c.C255T						PASS	.	G		43,4363	46.0+/-80.4	1,41,2161	142	131	135		255	4.3	1	4	dbSNP_120	135	398,8202	126.8+/-185.2	11,376,3913	no	coding-synonymous	QDPR	NM_000320.2		12,417,6074	AA,AG,GG		4.6279,0.9759,3.3907		85/245	17506042	441,12565	2203	4300	6503	SO:0001819	synonymous_variant	5860	exon3			AGCAACGCAAAGA	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.255C>T	4.37:g.17506042G>A		Somatic	215	1	0.00465116		WXS	Illumina HiSeq	Phase_I	209	98	0.4689	NM_000320	A8K158|B3KW71|Q53F52|Q9H3M5	Silent	SNP	ENST00000281243.5	37	CCDS3421.1	92	0.04212454212454213	1	0.0020325203252032522	15	0.04143646408839779	38	0.06643356643356643	38	0.05013192612137203	G	8.489	0.861623	0.17178	0.009759	0.046279	ENSG00000151552	ENST00000505710	.	.	.	5.5	4.33	0.51752	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.41998	-0.9477	3	.	.	.	-9.7047	7.9524	0.30023	0.8281:0.0:0.1719:0.0	rs12645938;rs59248207;rs12645938	.	.	.	V	61	.	.	A	-	2	0	QDPR	17115140	0.985000	0.35326	1.000000	0.80357	0.804000	0.45430	0.330000	0.19715	0.926000	0.37118	-0.471000	0.05019	GCG	G|0.963;A|0.037	0.037	strong		0.468	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		A	17506042	G	A	17506042	2	1	23	1	0	0	0	0	0	0	0	1	12872	1079	38	1		1	QDPR	4	17506042	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1428527	17506042	173648234	1148	17604										
CLRN2	645104	hgsc.bcm.edu	37	chr4	17524570	17524570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctggccttggccctggctCtggtcagcatgggctttgcc	13	14	2	0	rs13147559	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:17524570C>G	ENST00000511148.2	+	2	439	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	113			L -> V (in dbSNP:rs13147559).			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGCCCTGGCTCTGGTCAGCAT	0.577													C|||	479	0.095647	0.0053	0.1513	5008	,	,		18490	0.0893		0.1342	False		,,,				2504	0.1452				p.L113V		Atlas-SNP	.											.	CLRN2	40	.	0			c.C337G						PASS	.	C	VAL/LEU	127,4155		0,127,2014	103	109	107		337	4.2	1	4	dbSNP_121	107	1141,7363		91,959,3202	yes	missense	CLRN2	NM_001079827.2	32	91,1086,5216	GG,GC,CC		13.4172,2.9659,9.9171	benign	113/233	17524570	1268,11518	2141	4252	6393	SO:0001583	missense	645104	exon2			CTGGCTCTGGTCA		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.337C>G	4.37:g.17524570C>G	ENSP00000424711:p.Leu113Val	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	126	63	0.5	NM_001079827		Missense_Mutation	SNP	ENST00000511148.2	37	CCDS47032.1	204	0.09340659340659341	6	0.012195121951219513	38	0.10497237569060773	51	0.08916083916083917	109	0.1437994722955145	C	16.71	3.197607	0.58126	0.029659	0.134172	ENSG00000249581	ENST00000511148	D	0.83419	-1.72	5.06	4.22	0.49857	.	0.088467	0.47455	D	0.000233	T	0.02083	0.0065	L	0.38175	1.15	0.22771	P	0.99875403	P	0.47484	0.896	P	0.46758	0.526	T	0.47611	-0.9104	9	0.42905	T	0.14	-13.4468	13.1191	0.59316	0.0:0.9213:0.0:0.0787	rs13147559;rs17518172;rs13147559	113	A0PK11	CLRN2_HUMAN	V	113	ENSP00000424711:L113V	ENSP00000424711:L113V	L	+	1	2	CLRN2	17133668	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.944000	0.56629	1.148000	0.42385	-0.253000	0.11424	CTG	C|0.904;G|0.095	0.095	strong		0.577	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		G	17524570	C	G	17524570	3	3	23	1	0	0	0	0	1	0	0	0	3558	912	32	4	343	4	CLRN2	4	17524570	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18528	17524570	173629706	1149	17605										
DHX15	1665	hgsc.bcm.edu	37	chr4	24550580	24550580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacaatggaatgattttaatGtcaccaacttcagggcccaa	7	9	2	1	rs33972724	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:24550580G>A	ENST00000336812.4	-	6	1302	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	382	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGATTTTAATGTCACCAACTT	0.393													G|||	25	0.00499201	0.0015	0.013	5008	,	,		15491	0.0		0.0139	False		,,,				2504	0.0				p.D382D		Atlas-SNP	.											.	DHX15	69	.	0			c.C1146T						PASS	.	G		11,4395	17.9+/-39.9	0,11,2192	124	111	115		1146	3.2	1	4	dbSNP_126	115	108,8492	59.1+/-120.7	0,108,4192	no	coding-synonymous	DHX15	NM_001358.2		0,119,6384	AA,AG,GG		1.2558,0.2497,0.915		382/796	24550580	119,12887	2203	4300	6503	SO:0001819	synonymous_variant	1665	exon6			TTTAATGTCACCA	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1146C>T	4.37:g.24550580G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	92	39	0.423913	NM_001358	Q9NQT7	Silent	SNP	ENST00000336812.4	37	CCDS33966.1																																																																																			G|0.991;A|0.009	0.009	strong		0.393	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		A	24550580	G	A	24550580	2	1	23	1	0	0	0	0	0	0	0	1	4501	1368	48	2		2	DHX15	4	24550580	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7026010	24550580	166603696	1150	17606										
CCDC149	91050	hgsc.bcm.edu	37	chr4	24836619	24836619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactgctgctggatttaccCtggcccttcgagtttttccg	10	13	0	0	rs16876194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:24836619C>T	ENST00000389609.4	-	9	914	c.771G>A	c.(769-771)caG>caA	p.Q257Q	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Silent_p.Q257Q|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	202										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TGGATTTACCCTGGCCCTTCG	0.473													C|||	403	0.0804712	0.1611	0.0576	5008	,	,		18114	0.002		0.0835	False		,,,				2504	0.0654				p.Q257Q		Atlas-SNP	.											.	CCDC149	41	.	0			c.G771A						PASS	.	C	,	679,3727	286.3+/-278.7	51,577,1575	130	123	125		771,771	3.6	0.9	4	dbSNP_123	125	698,7902	173.2+/-223.7	20,658,3622	no	coding-synonymous,coding-synonymous	CCDC149	NM_001130726.2,NM_173463.4	,	71,1235,5197	TT,TC,CC		8.1163,15.4108,10.5874	,	257/530,257/530	24836619	1377,11629	2203	4300	6503	SO:0001819	synonymous_variant	91050	exon9			TTTACCCTGGCCC		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.771G>A	4.37:g.24836619C>T		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_173463	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	CCDS33967.2																																																																																			C|0.904;T|0.096	0.096	strong		0.473	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		T	24836619	C	T	24836619	2	4	23	1	0	0	0	0	0	0	0	1	2783	680	24	2		2	CCDC149	4	24836619	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	286039	24836619	166317657	1151	17607										
PCDH7	5099	hgsc.bcm.edu	37	chr4	30725987	30725987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagcatggggcgatacagGtccgttaatggtgggcccgg	16	10	0	0	rs977931	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:30725987G>A	ENST00000361762.2	+	1	3951	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	PCDH7_ENST00000543491.1_Silent_p.R981R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	981					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCGATACAGGTCCGTTAATG	0.522													A|||	1055	0.210663	0.1982	0.1571	5008	,	,		17125	0.3204		0.1133	False		,,,				2504	0.2526				p.R981R		Atlas-SNP	.											.	PCDH7	215	.	0			c.G2943A						PASS	.	A	,,,	759,3647	754.8+/-412.5	77,605,1521	89	90	90		2943,2943,2943,2943	0	1	4	dbSNP_86	90	1061,7539	770.5+/-407.7	61,939,3300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH7	NM_001173523.1,NM_002589.2,NM_032456.2,NM_032457.3	,,,	138,1544,4821	AA,AG,GG		12.3372,17.2265,13.9935	,,,	981/1256,981/1070,981/1073,981/1248	30725987	1820,11186	2203	4300	6503	SO:0001819	synonymous_variant	5099	exon1			ATACAGGTCCGTT	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2943G>A	4.37:g.30725987G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	95	50	0.526316	NM_032457	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	417	0.19093406593406592	91	0.18495934959349594	62	0.1712707182320442	177	0.3094405594405594	87	0.11477572559366754	A	0.011	-1.710468	0.00712	0.172265	0.123372	ENSG00000169851	ENST00000511884	.	.	.	5.08	9.99E-4	0.14044	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999997651	.	.	.	.	.	.	T	0.38394	-0.9663	3	.	.	.	.	3.2835	0.06924	0.3811:0.1117:0.3868:0.1204	rs977931;rs1047013;rs3775329;rs977931	.	.	.	I	671	.	.	V	+	1	0	PCDH7	30335085	0.589000	0.26807	0.991000	0.47740	0.219000	0.24729	-0.023000	0.12456	-0.116000	0.11893	-1.214000	0.01621	GTC	A|0.158;C|0.004	0.158	strong		0.522	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30725987	G	A	30725987	2	1	23	1	0	0	0	0	0	0	0	1	11516	1252	44	2		2	PCDH7	4	30725987	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5889368	30725987	160428289	1152	17608										
ARAP2	116984	hgsc.bcm.edu	37	chr4	36230634	36230634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaacccaaattcaggtgtgGttcctctgcagtggggaagt	13	8	2	1	rs141442791	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:36230634G>A	ENST00000303965.4	-	2	964	c.475C>T	c.(475-477)Cca>Tca	p.P159S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	159					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						TTCAGGTGTGGTTCCTCTGCA	0.393													G|||	7	0.00139776	0.0	0.0014	5008	,	,		20594	0.0		0.006	False		,,,				2504	0.0				p.P159S		Atlas-SNP	.											.	ARAP2	210	.	0			c.C475T						PASS	.	G	SER/PRO	3,4403	4.2+/-10.8	0,3,2200	69	65	67		475	-0.6	0	4	dbSNP_134	67	16,8584	11.9+/-42.8	0,16,4284	yes	missense	ARAP2	NM_015230.3	74	0,19,6484	AA,AG,GG		0.186,0.0681,0.1461	benign	159/1705	36230634	19,12987	2203	4300	6503	SO:0001583	missense	116984	exon2			GGTGTGGTTCCTC	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.475C>T	4.37:g.36230634G>A	ENSP00000302895:p.Pro159Ser	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	94	43	0.457447	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	5.262	0.233857	0.09969	6.81E-4	0.00186	ENSG00000047365	ENST00000303965	T	0.62639	0.01	5.5	-0.558	0.11796	.	0.647728	0.14546	N	0.312977	T	0.34395	0.0896	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12889	-1.0530	10	0.16420	T	0.52	.	3.6174	0.08082	0.3113:0.0:0.427:0.2617	.	89;159	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	S	159	ENSP00000302895:P159S	ENSP00000302895:P159S	P	-	1	0	ARAP2	35907029	0.888000	0.30383	0.021000	0.16686	0.262000	0.26303	1.029000	0.30140	0.010000	0.14839	0.650000	0.86243	CCA	G|0.998;A|0.002	0.002	strong		0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		A	36230634	G	A	36230634	3	1	23	1	0	0	0	0	1	0	0	0	839	1261	44	2	4767	2	ARAP2	4	36230634	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5504647	36230634	154923642	1153	17609										
C4orf19	55286	hgsc.bcm.edu	37	chr4	37592128	37592128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaggactgtgtgctgctgGcctcagaagggacccaagtc	13	11	1	1	rs2973275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:37592128G>A	ENST00000284437.6	+	3	629	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.A151T|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	151			A -> T (in dbSNP:rs2973275).							large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TGTGCTGCTGGCCTCAGAAGG	0.542													G|||	642	0.128195	0.0469	0.1499	5008	,	,		21033	0.0784		0.2545	False		,,,				2504	0.1442				p.A151T		Atlas-SNP	.											.	C4orf19	17	.	0			c.G451A						PASS	.	G	THR/ALA,THR/ALA	386,4020	192.3+/-217.7	7,372,1824	73	76	75		451,451	2.3	0	4	dbSNP_101	75	2126,6474	366.1+/-334.2	261,1604,2435	yes	missense,missense	C4orf19	NM_001104629.1,NM_018302.2	58,58	268,1976,4259	AA,AG,GG		24.7209,8.7608,19.3142	benign,benign	151/315,151/315	37592128	2512,10494	2203	4300	6503	SO:0001583	missense	55286	exon3			CTGCTGGCCTCAG	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.451G>A	4.37:g.37592128G>A	ENSP00000284437:p.Ala151Thr	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	158	73	0.462025	NM_018302	Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	CCDS3442.1	364	0.16666666666666666	45	0.09146341463414634	61	0.1685082872928177	63	0.11013986013986014	195	0.25725593667546176	G	9.098	1.003456	0.19121	0.087608	0.247209	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.34667	1.35;1.35	5.03	2.33	0.28932	.	0.879757	0.09877	N	0.744153	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.21753	0.06	B	0.27715	0.082	T	0.34675	-0.9819	9	0.06757	T	0.87	-3.985	6.4018	0.21642	0.3087:0.0:0.6913:0.0	rs2973275;rs3733499;rs61356581;rs2973275	151	Q8IY42	CD019_HUMAN	T	151	ENSP00000371408:A151T;ENSP00000284437:A151T	ENSP00000284437:A151T	A	+	1	0	C4orf19	37268523	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.494000	0.22467	0.381000	0.24851	0.655000	0.94253	GCC	G|0.830;A|0.170	0.170	strong		0.542	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		A	37592128	G	A	37592128	3	1	23	1	0	0	0	0	1	0	0	0	2253	1203	42	2	457	2	C4orf19	4	37592128	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1361494	37592128	153562148	1154	17610										
TBC1D1	23216	hgsc.bcm.edu	37	chr4	38016395	38016395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagggagccaggagcctgTgcgcaggcccatgcgcaagt	15	13	0	0	rs10501	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:38016395T>G	ENST00000261439.4	+	3	1038	c.683T>G	c.(682-684)gTg>gGg	p.V228G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V228G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	228			V -> G (in dbSNP:rs10501).		membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAGGAGCCTGTGCGCAGGCCC	0.692													G|||	2897	0.578474	0.6422	0.487	5008	,	,		11341	0.7093		0.4284	False		,,,				2504	0.5767				p.V228G		Atlas-SNP	.											TBC1D1,NS,carcinoma,0,1	TBC1D1	94	1	0			c.T683G						PASS	.	G	GLY/VAL	2525,1759		779,967,396	12	15	14		683	0.3	0	4	dbSNP_52	14	3573,4971		790,1993,1489	no	missense	TBC1D1	NM_015173.2	109	1569,2960,1885	GG,GT,TT		41.8188,41.0598,47.5366	benign	228/1169	38016395	6098,6730	2142	4272	6414	SO:0001583	missense	23216	exon3			AGCCTGTGCGCAG	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.683T>G	4.37:g.38016395T>G	ENSP00000261439:p.Val228Gly	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	34	17	0.5	NM_015173	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	1227	0.5618131868131868	307	0.6239837398373984	174	0.48066298342541436	426	0.7447552447552448	320	0.42216358839050133	G	0.134	-1.110455	0.01813	0.589402	0.418188	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.17213	3.65;4.04;2.29	5.22	0.314	0.15847	Phosphotyrosine interaction domain (1);	0.609127	0.15462	N	0.261076	T	0.00012	0.0000	N	0.08118	0	0.51012	P	9.40000000000385E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12293	-1.0553	9	0.22109	T	0.4	-0.0107	4.0723	0.09887	0.0774:0.1785:0.3923:0.3518	rs10501;rs3188894;rs13113776;rs58439251	228;228;228	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	G	228;228;99	ENSP00000423651:V228G;ENSP00000261439:V228G;ENSP00000396877:V99G	ENSP00000261439:V228G	V	+	2	0	TBC1D1	37692790	0.138000	0.22547	0.000000	0.03702	0.023000	0.10783	1.416000	0.34759	-0.122000	0.11766	-0.323000	0.08544	GTG	T|0.448;G|0.552	0.552	strong		0.692	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		G	38016395	T	G	38016395	3	3	23	1	0	0	0	0	1	0	0	0	15594	1696	59	5	689	5	TBC1D1	4	38016395	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	424267	38016395	153137881	1155	17611										
N4BP2	55728	hgsc.bcm.edu	37	chr4	40119501	40119501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttcaggcgtaacattcaTggggtaagcaaagaaaaaat	9	5	2	1	rs1128372	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:40119501T>C	ENST00000261435.6	+	8	2093	c.1677T>C	c.(1675-1677)caT>caC	p.H559H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	559					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAACATTCATGGGGTAAGCA	0.313													T|||	569	0.113618	0.0106	0.255	5008	,	,		15891	0.0208		0.2207	False		,,,				2504	0.138				p.H559H		Atlas-SNP	.											.	N4BP2	166	.	0			c.T1677C						PASS	.	T		214,4192	129.4+/-166.1	10,194,1999	79	74	76		1677	4.1	1	4	dbSNP_86	76	1982,6618	345.4+/-325.7	235,1512,2553	no	coding-synonymous	N4BP2	NM_018177.4		245,1706,4552	CC,CT,TT		23.0465,4.857,16.8845		559/1771	40119501	2196,10810	2203	4300	6503	SO:0001819	synonymous_variant	55728	exon8			CATTCATGGGGTA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1677T>C	4.37:g.40119501T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	96	37	0.385417	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	CCDS3457.1	286	0.13095238095238096	6	0.012195121951219513	97	0.26795580110497236	10	0.017482517482517484	173	0.22823218997361477	T	5.040	0.193016	0.09599	0.04857	0.230465	ENSG00000078177	ENST00000513269	.	.	.	5.3	4.11	0.48088	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999999	.	.	.	.	.	.	T	0.02081	-1.1217	3	.	.	.	-15.8173	12.6937	0.56990	0.0:0.0716:0.0:0.9284	rs1128372;rs16995561;rs17439970;rs1128372	.	.	.	R	206	.	.	W	+	1	0	N4BP2	39795896	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	2.177000	0.42509	0.322000	0.23283	-1.139000	0.01908	TGG	T|0.851;C|0.149	0.149	strong		0.313	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		C	40119501	T	C	40119501	2	2	23	1	0	0	0	0	0	0	0	1	10110	1461	51	2		2	N4BP2	4	40119501	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2103106	40119501	151034775	1156	17612										
N4BP2	55728	hgsc.bcm.edu	37	chr4	40138676	40138676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagaatgtcacatctcatActggccagaagtctaaagag	9	8	3	3	rs2271395	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:40138676A>G	ENST00000261435.6	+	14	5175	c.4759A>G	c.(4759-4761)Act>Gct	p.T1587A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1587			T -> A (in dbSNP:rs2271395).		nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CACATCTCATACTGGCCAGAA	0.343													A|||	644	0.128594	0.0076	0.0403	5008	,	,		16869	0.3998		0.0517	False		,,,				2504	0.1544				p.T1587A		Atlas-SNP	.											.	N4BP2	166	.	0			c.A4759G						PASS	.	A	ALA/THR	85,4321	73.6+/-111.7	0,85,2118	73	72	72		4759	2.9	1	4	dbSNP_100	72	395,8205	127.2+/-185.5	14,367,3919	yes	missense	N4BP2	NM_018177.4	58	14,452,6037	GG,GA,AA		4.593,1.9292,3.6906	benign	1587/1771	40138676	480,12526	2203	4300	6503	SO:0001583	missense	55728	exon14			TCTCATACTGGCC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4759A>G	4.37:g.40138676A>G	ENSP00000261435:p.Thr1587Ala	Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	207	110	0.531401	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	317|317	0.14514652014652016|0.14514652014652016	5|5	0.01016260162601626|0.01016260162601626	16|16	0.04419889502762431|0.04419889502762431	260|260	0.45454545454545453|0.45454545454545453	36|36	0.047493403693931395|0.047493403693931395	A|A	9.740|9.740	1.164654|1.164654	0.21538|0.21538	0.019292|0.019292	0.04593|0.04593	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.17691|.	2.26|.	5.41|5.41	2.91|2.91	0.33838|0.33838	.|.	0.397696|.	0.24141|.	N|.	0.041178|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.44927|0.44927	P|P	0.002055000000000029|0.002055000000000029	B;B|.	0.33171|.	0.4;0.278|.	B;B|.	0.33960|.	0.173;0.084|.	T|T	0.48536|0.48536	-0.9027|-0.9027	9|4	0.33940|.	T|.	0.23|.	-12.4649|-12.4649	5.2482|5.2482	0.15508|0.15508	0.6522:0.0:0.0747:0.2731|0.6522:0.0:0.0747:0.2731	rs2271395;rs52816843;rs2271395|rs2271395;rs52816843;rs2271395	1587;1587|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	A|C	1587;1507|1233	ENSP00000261435:T1587A|.	ENSP00000261435:T1587A|.	T|Y	+|+	1|2	0|0	N4BP2|N4BP2	39815071|39815071	0.313000|0.313000	0.24554|0.24554	0.994000|0.994000	0.49952|0.49952	0.462000|0.462000	0.32619|0.32619	1.060000|1.060000	0.30530|0.30530	0.329000|0.329000	0.23460|0.23460	0.460000|0.460000	0.39030|0.39030	ACT|TAC	A|0.918;G|0.082	0.082	strong		0.343	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		G	40138676	A	G	40138676	3	3	23	1	0	0	0	0	1	0	0	0	10110	391	14	2	4805	2	N4BP2	4	40138676	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19175	40138676	151015600	1157	17613										
CHRNA9	55584	hgsc.bcm.edu	37	chr4	40337908	40337908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctttttgaagattattcTaatgctcttcgtccagtgga	8	8	2	2	rs10022491	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:40337908T>C	ENST00000310169.2	+	2	268	c.129T>C	c.(127-129)tcT>tcC	p.S43S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	43					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AAGATTATTCTAATGCTCTTC	0.413													C|||	3227	0.644369	0.9334	0.6427	5008	,	,		21423	0.4008		0.5338	False		,,,				2504	0.6196				p.S43S	Esophageal Squamous(115;1297 1602 22235 25158 43327)	Atlas-SNP	.											.	CHRNA9	53	.	0			c.T129C						PASS	.	C		3819,587	259.8+/-263.3	1656,507,40	170	159	163		129	4	1	4	dbSNP_119	163	4694,3906	546.3+/-384.9	1287,2120,893	no	coding-synonymous	CHRNA9	NM_017581.2		2943,2627,933	CC,CT,TT		45.4186,13.3227,34.5456		43/480	40337908	8513,4493	2203	4300	6503	SO:0001819	synonymous_variant	55584	exon2			TTATTCTAATGCT	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.129T>C	4.37:g.40337908T>C		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	228	112	0.491228	NM_017581	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																			T|0.360;C|0.640	0.640	strong		0.413	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			C	40337908	T	C	40337908	2	2	23	1	0	0	0	0	0	0	0	1	3389	1509	53	3		3	CHRNA9	4	40337908	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	199232	40337908	150816368	1158	17614										
NSUN7	79730	hgsc.bcm.edu	37	chr4	40810663	40810663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcctgcatttgtgaagaacActtgtccctccagaccgcgt	9	13	0	3	rs4861066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:40810663A>G	ENST00000381782.2	+	12	2359	c.1864A>G	c.(1864-1866)Act>Gct	p.T622A	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	622			T -> A (in dbSNP:rs4861066).				methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGTGAAGAACACTTGTCCCTC	0.527													A|||	842	0.168131	0.1762	0.2305	5008	,	,		19862	0.0208		0.3022	False		,,,				2504	0.1268				p.T622A		Atlas-SNP	.											.	NSUN7	70	.	0			c.A1864G						PASS	.	A	ALA/THR	314,1070		43,228,421	90	81	84		1864	-3.8	0	4	dbSNP_111	84	1071,2111		180,711,700	yes	missense	NSUN7	NM_024677.4	58	223,939,1121	GG,GA,AA		33.6581,22.6879,30.3329	benign	622/719	40810663	1385,3181	692	1591	2283	SO:0001583	missense	79730	exon12			AAGAACACTTGTC	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1864A>G	4.37:g.40810663A>G	ENSP00000371201:p.Thr622Ala	Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_024677	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	CCDS3461.2	404	0.184981684981685	86	0.17479674796747968	94	0.2596685082872928	14	0.024475524475524476	210	0.2770448548812665	A	10.54	1.379398	0.24944	0.226879	0.336581	ENSG00000179299	ENST00000381782	T	0.04502	3.61	4.6	-3.78	0.04333	.	0.840408	0.10247	N	0.697595	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.45323	-0.9269	9	0.29301	T	0.29	-0.7001	6.4663	0.21983	0.4011:0.2479:0.351:0.0	rs4861066;rs17441944;rs52820359;rs60259255;rs4861066	622	Q8NE18	NSUN7_HUMAN	A	622	ENSP00000371201:T622A	ENSP00000371201:T622A	T	+	1	0	NSUN7	40505420	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.536000	0.06135	-0.924000	0.03780	-0.353000	0.07706	ACT	A|0.808;G|0.192	0.192	strong		0.527	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		G	40810663	A	G	40810663	3	3	23	1	0	0	0	0	1	0	0	0	10683	159	6	2	1906	2	NSUN7	4	40810663	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	472755	40810663	150343613	1159	17615										
APBB2	323	hgsc.bcm.edu	37	chr4	40818179	40818179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataagacccctcgttttacaTtggttgtgactcttctggtt	8	9	2	2	rs112788816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:40818179T>C	ENST00000295974.8	-	18	2836	c.2207A>G	c.(2206-2208)aAt>aGt	p.N736S	RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.N188S|APBB2_ENST00000506352.1_Missense_Mutation_p.N715S|APBB2_ENST00000513140.1_Missense_Mutation_p.N714S|APBB2_ENST00000502841.1_Missense_Mutation_p.N188S|APBB2_ENST00000543538.1_Missense_Mutation_p.N188S|APBB2_ENST00000508593.1_Missense_Mutation_p.N737S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	736	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCGTTTTACATTGGTTGTGAC	0.488													T|||	26	0.00519169	0.0023	0.0058	5008	,	,		19924	0.001		0.0149	False		,,,				2504	0.0031				p.N737S	Ovarian(3;20 75 16686 49997)	Atlas-SNP	.											.	APBB2	61	.	0			c.A2210G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	25,3899		0,25,1937	213	210	211		2207,563,563,563,563,2210,2141	5.5	1	4	dbSNP_132	211	166,8138		2,162,3988	yes	missense,missense,missense,missense,missense,missense,missense	APBB2	NM_001166050.1,NM_001166051.1,NM_001166052.1,NM_001166053.1,NM_001166054.1,NM_004307.1,NM_173075.4	46,46,46,46,46,46,46	2,187,5925	CC,CT,TT		1.999,0.6371,1.562	benign,benign,benign,benign,benign,benign,benign	736/759,188/211,188/211,188/211,188/211,737/760,714/737	40818179	191,12037	1962	4152	6114	SO:0001583	missense	323	exon18			TTTACATTGGTTG	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2207A>G	4.37:g.40818179T>C	ENSP00000295974:p.Asn736Ser	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	237	107	0.451477	NM_004307	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	16	0.007326007326007326	2	0.0040650406504065045	3	0.008287292817679558	1	0.0017482517482517483	10	0.013192612137203167	T	6.513	0.462936	0.12402	0.006371	0.01999	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305	T;T;T;T;T;T;T	0.37584	2.9;1.19;2.84;2.9;1.19;2.84;1.19	5.53	5.53	0.82687	.	0.042264	0.85682	D	0.000000	T	0.05318	0.0141	N	0.00823	-1.155	0.47153	D	0.999335	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.12156	0.003;0.007;0.003	T	0.20009	-1.0288	10	0.10377	T	0.69	-21.7649	10.0801	0.42384	0.0:0.0748:0.0:0.9252	.	737;714;736	E9PG87;Q92870-2;Q92870	.;.;APBB2_HUMAN	S	736;735;188;714;737;188;715;188	ENSP00000295974:N736S;ENSP00000439357:N188S;ENSP00000426018:N714S;ENSP00000427211:N737S;ENSP00000425802:N188S;ENSP00000421539:N715S;ENSP00000423765:N188S	ENSP00000295974:N736S	N	-	2	0	APBB2	40512936	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.952000	0.70282	2.105000	0.64084	0.528000	0.53228	AAT	T|0.991;C|0.009	0.009	strong		0.488	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		C	40818179	T	C	40818179	3	2	23	1	0	0	0	0	1	0	0	0	761	1493	52	2	73	2	APBB2	4	40818179	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7516	40818179	150336097	1160	17616										
YIPF7	285525	hgsc.bcm.edu	37	chr4	44626641	44626641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgaaaagaacatggcgcaAccagacaggatgaccatggg	13	8	0	4	rs60959366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:44626641A>G	ENST00000332990.5	-	5	673	c.657T>C	c.(655-657)ggT>ggC	p.G219G	YIPF7_ENST00000415895.4_Silent_p.G195G	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	219						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACATGGCGCAACCAGACAGGA	0.527													G|||	2764	0.551917	0.6884	0.4625	5008	,	,		17468	0.5585		0.4095	False		,,,				2504	0.5706				p.G219G		Atlas-SNP	.											.	YIPF7	33	.	0			c.T657C						PASS	.	G		2569,1627		797,975,326	50	56	54		657	3.4	0.8	4	dbSNP_129	54	3093,5375		558,1977,1699	no	coding-synonymous	YIPF7	NM_182592.2		1355,2952,2025	GG,GA,AA		36.5257,38.775,44.7094		219/281	44626641	5662,7002	2098	4234	6332	SO:0001819	synonymous_variant	285525	exon5			GGCGCAACCAGAC	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.657T>C	4.37:g.44626641A>G		Somatic	411	1	0.00243309		WXS	Illumina HiSeq	Phase_I	391	160	0.409207	NM_182592	Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	37	CCDS54766.1																																																																																			A|0.499;G|0.501	0.501	strong		0.527	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		G	44626641	A	G	44626641	2	3	23	1	0	0	0	0	0	0	0	1	17480	30	2	2		2	YIPF7	4	44626641	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3808462	44626641	146527635	1161	17617										
YIPF7	285525	hgsc.bcm.edu	37	chr4	44652030	44652030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccataaagatttccataggCattagagtcattaccactct	5	10	2	2	rs2348353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:44652030C>T	ENST00000332990.5	-	2	176	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	YIPF7_ENST00000415895.4_Missense_Mutation_p.A30T	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	54			A -> T (in dbSNP:rs2348353). {ECO:0000269|PubMed:14702039}.			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TTTCCATAGGCATTAGAGTCA	0.308													C|||	676	0.134984	0.0567	0.1758	5008	,	,		15827	0.251		0.1034	False		,,,				2504	0.1247				p.A54T		Atlas-SNP	.											.	YIPF7	33	.	0			c.G160A						PASS	.	C	THR/ALA	252,3364		7,238,1563	48	44	45		160	1.8	0	4	dbSNP_100	45	579,7581		24,531,3525	yes	missense	YIPF7	NM_182592.2	58	31,769,5088	TT,TC,CC		7.0956,6.969,7.0567	benign	54/281	44652030	831,10945	1808	4080	5888	SO:0001583	missense	285525	exon2			CATAGGCATTAGA	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.160G>A	4.37:g.44652030C>T	ENSP00000332772:p.Ala54Thr	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	152	87	0.572368	NM_182592	Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	CCDS54766.1	324|324	0.14835164835164835|0.14835164835164835	26|26	0.052845528455284556|0.052845528455284556	56|56	0.15469613259668508|0.15469613259668508	155|155	0.270979020979021|0.270979020979021	87|87	0.11477572559366754|0.11477572559366754	C|C	6.390|6.390	0.440160|0.440160	0.12104|0.12104	0.06969|0.06969	0.070956|0.070956	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.44482|.	0.92|.	5.45|5.45	1.76|1.76	0.24704|0.24704	.|.	0.760435|.	0.11681|.	N|.	0.539804|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.25563|.	0.129;0.002|.	B;B|.	0.23419|.	0.046;0.004|.	T|T	0.17868|0.17868	-1.0355|-1.0355	9|4	0.30078|.	T|.	0.28|.	-9.8831|-9.8831	4.8351|4.8351	0.13460|0.13460	0.1552:0.6455:0.0:0.1993|0.1552:0.6455:0.0:0.1993	rs2348353;rs17600948;rs52793322;rs58123416;rs2348353|rs2348353;rs17600948;rs52793322;rs58123416;rs2348353	54;54|.	Q8N8F6-4;Q8N8F6|.	.;YIPF7_HUMAN|.	T|Y	54|30	ENSP00000332772:A54T|.	ENSP00000332772:A54T|.	A|C	-|-	1|2	0|0	YIPF7|YIPF7	44346787|44346787	0.004000|0.004000	0.15560|0.15560	0.004000|0.004000	0.12327|0.12327	0.035000|0.035000	0.12851|0.12851	0.362000|0.362000	0.20284|0.20284	0.119000|0.119000	0.18210|0.18210	0.644000|0.644000	0.83932|0.83932	GCC|TGC	C|0.816;T|0.184	0.184	strong		0.308	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		T	44652030	C	T	44652030	3	4	23	1	0	0	0	0	1	0	0	0	17480	710	25	2	702	2	YIPF7	4	44652030	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25389	44652030	146502246	1162	17618										
GABRB1	2560	hgsc.bcm.edu	37	chr4	47408709	47408709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttcacaggaatcacgacAgtgcttacaatgacaaccat	6	11	3	1	rs6289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:47408709A>G	ENST00000295454.3	+	8	1138	c.846A>G	c.(844-846)acA>acG	p.T282T	GABRB1_ENST00000538619.1_Silent_p.T212T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	282					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATCACGACAGTGCTTACAA	0.443													A|||	1051	0.209864	0.3064	0.1873	5008	,	,		19035	0.0179		0.3062	False		,,,				2504	0.1943				p.T282T		Atlas-SNP	.											.	GABRB1	107	.	0			c.A846G						PASS	.	A		1210,3196	421.9+/-339.5	173,864,1166	149	138	142		846	-9.1	0.6	4	dbSNP_52	142	2850,5750	449.4+/-362.1	449,1952,1899	no	coding-synonymous	GABRB1	NM_000812.3		622,2816,3065	GG,GA,AA		33.1395,27.4626,31.2164		282/475	47408709	4060,8946	2203	4300	6503	SO:0001819	synonymous_variant	2560	exon8			CACGACAGTGCTT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.846A>G	4.37:g.47408709A>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	170	80	0.470588	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	CCDS3474.1																																																																																			A|0.721;G|0.279	0.279	strong		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			G	47408709	A	G	47408709	2	3	23	1	0	0	0	0	0	0	0	1	6166	175	7	3		3	GABRB1	4	47408709	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2756679	47408709	143745567	1163	17619										
ATP10D	57205	hgsc.bcm.edu	37	chr4	47560163	47560163	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatttcaactcctacacatCctgccctttgactcagtaag	4	14	2	1	rs11729411	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:47560163C>A	ENST00000273859.3	+	12	2576	c.2307C>A	c.(2305-2307)atC>atA	p.I769I	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	769					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I769I(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCTACACATCCTGCCCTTTG	0.483													C|||	1125	0.224641	0.1785	0.2925	5008	,	,		20635	0.2986		0.2127	False		,,,				2504	0.1748				p.I769I		Atlas-SNP	.											ATP10D,NS,carcinoma,0,1	ATP10D	168	1	1	Substitution - coding silent(1)	stomach(1)	c.C2307A						PASS	.	C		849,3557	334.9+/-303.7	87,675,1441	141	120	127		2307	3.2	1	4	dbSNP_120	127	1925,6675	340.3+/-323.5	217,1491,2592	no	coding-synonymous	ATP10D	NM_020453.3		304,2166,4033	AA,AC,CC		22.3837,19.2692,21.3286		769/1427	47560163	2774,10232	2203	4300	6503	SO:0001819	synonymous_variant	57205	exon12			ACACATCCTGCCC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2307C>A	4.37:g.47560163C>A		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	215	211	0.981395	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																			C|0.779;A|0.221	0.221	strong		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47560163	C	A	47560163	2	1	23	1	0	0	0	0	0	0	0	1	1118	845	30	4		4	ATP10D	4	47560163	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	151454	47560163	143594113	1164	17620										
NFXL1	152518	hgsc.bcm.edu	37	chr4	47901476	47901476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaatgaggcacaagccacGgatctaaaggtggatcttct	11	8	3	2	rs12651301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:47901476G>A	ENST00000507489.1	-	6	913	c.737C>T	c.(736-738)cCg>cTg	p.P246L	NFXL1_ENST00000381538.3_Missense_Mutation_p.P246L|NFXL1_ENST00000329043.3_Missense_Mutation_p.P246L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	246			P -> L (in dbSNP:rs12651301).			integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGCCACGGATCTAAAGG	0.403													G|||	1947	0.388778	0.329	0.3415	5008	,	,		17069	0.6002		0.327	False		,,,				2504	0.3487				p.P246L		Atlas-SNP	.											.	NFXL1	79	.	0			c.C737T						PASS	.	G	LEU/PRO	1465,2941	472.4+/-356.4	258,949,996	107	100	103		737	5.6	0.8	4	dbSNP_120	103	2666,5934	429.1+/-356.1	428,1810,2062	yes	missense	NFXL1	NM_152995.4	98	686,2759,3058	AA,AG,GG		31.0,33.2501,31.7623	probably-damaging	246/912	47901476	4131,8875	2203	4300	6503	SO:0001583	missense	152518	exon6			AGCCACGGATCTA	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.737C>T	4.37:g.47901476G>A	ENSP00000422037:p.Pro246Leu	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	173	93	0.537572	NM_152995	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	913	0.41804029304029305	163	0.3313008130081301	126	0.34806629834254144	360	0.6293706293706294	264	0.3482849604221636	G	17.25	3.343126	0.61073	0.332501	0.31	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.44881	0.91;0.91;0.91	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.74258	2.255	0.09310	P	0.9999999999929254	D	0.89917	1.0	D	0.97110	1.0	T	0.48387	-0.9040	9	0.27082	T	0.32	-8.0752	19.5578	0.95358	0.0:0.0:1.0:0.0	rs12651301;rs17463743;rs52793103;rs12651301	246	Q6ZNB6	NFXL1_HUMAN	L	246	ENSP00000370949:P246L;ENSP00000422037:P246L;ENSP00000333113:P246L	ENSP00000333113:P246L	P	-	2	0	NFXL1	47596233	1.000000	0.71417	0.786000	0.31890	0.282000	0.26991	9.434000	0.97515	2.625000	0.88918	0.655000	0.94253	CCG	G|0.647;A|0.353	0.353	strong		0.403	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		A	47901476	G	A	47901476	3	1	23	1	0	0	0	0	1	0	0	0	10388	1116	39	1	2070	1	NFXL1	4	47901476	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	341313	47901476	143252800	1165	17621										
CNGA1	1259	hgsc.bcm.edu	37	chr4	47945295	47945295	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttttattttcgtttttatCatctgacttgctgaaaaaat	5	5	2	2	rs28642966	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:47945295C>T	ENST00000514170.1	-	8	671	c.352G>A	c.(352-354)Gat>Aat	p.D118N	CNGA1_ENST00000544810.1_Missense_Mutation_p.D118N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D118N|CNGA1_ENST00000402813.3_Missense_Mutation_p.D187N|CNGA1_ENST00000420489.2_Missense_Mutation_p.D118N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	118			D -> N (in dbSNP:rs28642966). {ECO:0000269|PubMed:7479749}.		phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCGTTTTTATCATCTGACTTG	0.318													C|||	1000	0.199681	0.1785	0.1902	5008	,	,		14907	0.3036		0.1332	False		,,,				2504	0.1963				p.D187N		Atlas-SNP	.											.	CNGA1	74	.	0			c.G559A						PASS	.	C	ASN/ASP,ASN/ASP	522,2994		37,448,1273	32	28	29		559,352	3.8	1	4	dbSNP_125	29	864,7092		52,760,3166	yes	missense,missense	CNGA1	NM_001142564.1,NM_000087.3	23,23	89,1208,4439	TT,TC,CC		10.8597,14.8464,12.0816	benign,benign	187/760,118/691	47945295	1386,10086	1758	3978	5736	SO:0001583	missense	1259	exon7			TTTTATCATCTGA	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.352G>A	4.37:g.47945295C>T	ENSP00000426862:p.Asp118Asn	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	98	45	0.459184	NM_001142564	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	494	0.2261904761904762	106	0.21544715447154472	77	0.212707182320442	203	0.3548951048951049	108	0.1424802110817942	C	10.12	1.262041	0.23051	0.148464	0.108597	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722	T;T;T;T;T;T	0.24723	3.38;3.38;3.38;3.38;3.38;1.84	4.66	3.8	0.43715	.	0.671744	0.15028	N	0.284602	T	0.00012	0.0000	L	0.45581	1.43	0.41375	P	0.012488000000000055	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41998	-0.9477	9	0.12103	T	0.63	.	6.8529	0.24024	0.0:0.7226:0.1803:0.0971	rs28642966;rs28642966	118;118	Q4W5E3;P29973	.;CNGA1_HUMAN	N	187;118;118;118;118;118	ENSP00000384264:D187N;ENSP00000426862:D118N;ENSP00000443401:D118N;ENSP00000351320:D118N;ENSP00000389881:D118N;ENSP00000423721:D118N	ENSP00000351320:D118N	D	-	1	0	CNGA1	47640052	0.075000	0.21258	1.000000	0.80357	0.434000	0.31775	0.535000	0.23114	1.072000	0.40860	0.655000	0.94253	GAT	C|0.787;T|0.213	0.213	strong		0.318	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		T	47945295	C	T	47945295	3	4	23	1	0	0	0	0	1	0	0	0	3596	826	29	2	1736	2	CNGA1	4	47945295	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43819	47945295	143208981	1166	17622										
NIPAL1	152519	hgsc.bcm.edu	37	chr4	48037926	48037926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtagtgacttgctctgccAtcttattccaagagtggtat	10	8	2	2	rs13116684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:48037926A>G	ENST00000295461.5	+	6	1036	c.970A>G	c.(970-972)Atc>Gtc	p.I324V		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	324			I -> V (in dbSNP:rs13116684).			integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGCTCTGCCATCTTATTCCA	0.413													A|||	1022	0.204073	0.2262	0.1916	5008	,	,		9725	0.1637		0.2187	False		,,,				2504	0.2096				p.I324V		Atlas-SNP	.											.	NIPAL1	29	.	0			c.A970G						PASS	.	A	VAL/ILE	898,3508	346.9+/-309.2	84,730,1389	166	152	157		970	2.2	1	4	dbSNP_121	157	1867,6733	333.7+/-320.7	208,1451,2641	yes	missense	NIPAL1	NM_207330.1	29	292,2181,4030	GG,GA,AA		21.7093,20.3813,21.2594	probably-damaging	324/411	48037926	2765,10241	2203	4300	6503	SO:0001583	missense	152519	exon6			TCTGCCATCTTAT	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.970A>G	4.37:g.48037926A>G	ENSP00000295461:p.Ile324Val	Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	343	172	0.501458	NM_207330	B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	CCDS3479.1	461	0.21108058608058608	119	0.241869918699187	72	0.19889502762430938	110	0.19230769230769232	160	0.21108179419525067	A	13.45	2.240068	0.39598	0.203813	0.217093	ENSG00000163293	ENST00000295461	D	0.92805	-3.11	5.96	2.24	0.28232	.	0.063928	0.64402	N	0.000005	T	0.00412	0.0013	M	0.74258	2.255	0.25630	P	0.9863127	D	0.64830	0.994	D	0.71656	0.974	T	0.00303	-1.1833	8	.	.	.	.	12.2212	0.54435	0.8724:0.0:0.1276:0.0	rs13116684;rs13116684	324	Q6NVV3	NIPA3_HUMAN	V	324	ENSP00000295461:I324V	.	I	+	1	0	NIPAL1	47732683	1.000000	0.71417	0.985000	0.45067	0.095000	0.18619	6.085000	0.71343	0.168000	0.19655	-1.122000	0.02009	ATC	A|0.792;G|0.208	0.208	strong		0.413	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		G	48037926	A	G	48037926	3	3	23	1	0	0	0	0	1	0	0	0	10424	217	8	2	992	2	NIPAL1	4	48037926	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	92631	48037926	143116350	1167	17623										
SLAIN2	57606	hgsc.bcm.edu	37	chr4	48424058	48424058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcctaaaacctatggtagCatgaaagatgacagttggaa	10	7	0	3	rs17609614	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:48424058C>T	ENST00000264313.6	+	8	2128	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	SLAIN2_ENST00000512093.1_Silent_p.S403S	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	570					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTATGGTAGCATGAAAGATG	0.373													C|||	151	0.0301518	0.0325	0.0591	5008	,	,		19100	0.0268		0.0229	False		,,,				2504	0.0174				p.S570S		Atlas-SNP	.											.	SLAIN2	31	.	0			c.C1710T						PASS	.	C		128,3588		2,124,1732	65	61	62		1710	3.7	1	4	dbSNP_123	62	231,7965		4,223,3871	no	coding-synonymous	SLAIN2	NM_020846.1		6,347,5603	TT,TC,CC		2.8184,3.4446,3.0138		570/582	48424058	359,11553	1858	4098	5956	SO:0001819	synonymous_variant	57606	exon8			TGGTAGCATGAAA	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1710C>T	4.37:g.48424058C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	64	33	0.515625	NM_020846	A8K4P1|Q8N5R3	Silent	SNP	ENST00000264313.6	37	CCDS47051.1																																																																																			C|0.968;T|0.032	0.032	strong		0.373	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		T	48424058	C	T	48424058	2	4	23	1	0	0	0	0	0	0	0	1	14366	709	25	2		2	SLAIN2	4	48424058	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	386132	48424058	142730218	1168	17624										
SPATA18	132671	hgsc.bcm.edu	37	chr4	52946023	52946023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcattgcctttgcaatgcaGgccttagaaccacccctaga	8	13	0	2	rs79854970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:52946023G>A	ENST00000295213.4	+	9	1667	c.1293G>A	c.(1291-1293)caG>caA	p.Q431Q	SPATA18_ENST00000419395.2_Silent_p.Q399Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	431					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTGCAATGCAGGCCTTAGAAC	0.428													G|||	44	0.00878594	0.0008	0.0	5008	,	,		21066	0.0377		0.001	False		,,,				2504	0.0041				p.Q431Q		Atlas-SNP	.											SPATA18_ENST00000295213,NS,carcinoma,0,2	SPATA18	222	2	0			c.G1293A						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	245	230	235		1293	4.4	1	4	dbSNP_131	235	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPATA18	NM_145263.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		431/539	52946023	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	132671	exon9			AATGCAGGCCTTA	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1293G>A	4.37:g.52946023G>A		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	221	98	0.443439	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																			G|0.995;A|0.005	0.005	strong		0.428	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		A	52946023	G	A	52946023	2	1	23	1	0	0	0	0	0	0	0	1	15002	991	35	2		2	SPATA18	4	52946023	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4521965	52946023	138208253	1169	17625										
SCFD2	152579	hgsc.bcm.edu	37	chr4	53751932	53751932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgggttcctggcttcaaCgatgccacaagatctttgac	9	12	2	2	rs2306600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:53751932C>T	ENST00000401642.3	-	8	2077	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	SCFD2_ENST00000388940.4_Silent_p.S603S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	648					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGGCTTCAACGATGCCACAA	0.547													C|||	719	0.14357	0.1339	0.1455	5008	,	,		20399	0.2341		0.0964	False		,,,				2504	0.1104				p.S648S		Atlas-SNP	.											SCFD2,colon,carcinoma,0,3	SCFD2	78	3	0			c.G1944A						PASS	.	C		633,3773	273.7+/-271.5	48,537,1618	115	106	109		1944	-5.9	0	4	dbSNP_100	109	856,7744	195.9+/-241.0	37,782,3481	no	coding-synonymous	SCFD2	NM_152540.3		85,1319,5099	TT,TC,CC		9.9535,14.3668,11.4486		648/685	53751932	1489,11517	2203	4300	6503	SO:0001819	synonymous_variant	152579	exon8			CTTCAACGATGCC	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1944G>A	4.37:g.53751932C>T		Somatic	425	0	0		WXS	Illumina HiSeq	Phase_I	357	161	0.45098	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	CCDS33984.1																																																																																			C|0.864;T|0.136	0.136	strong		0.547	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		T	53751932	C	T	53751932	2	4	23	1	0	0	0	0	0	0	0	1	13890	523	19	1		1	SCFD2	4	53751932	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	805909	53751932	137402344	1170	17626										
SCFD2	152579	hgsc.bcm.edu	37	chr4	54011576	54011576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgctttcttgactttttcTtctgcttcacacaggtcttt	5	10	5	1	rs79628372	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:54011576T>C	ENST00000401642.3	-	5	1618	c.1485A>G	c.(1483-1485)gaA>gaG	p.E495E	SCFD2_ENST00000388940.4_Silent_p.E495E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	495					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.E495E(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGACTTTTTCTTCTGCTTCAC	0.443													T|||	253	0.0505192	0.0023	0.0663	5008	,	,		19321	0.0853		0.0835	False		,,,				2504	0.0348				p.E495E		Atlas-SNP	.											SCFD2,NS,carcinoma,0,1	SCFD2	78	1	1	Substitution - coding silent(1)	prostate(1)	c.A1485G						PASS	.	T		63,4343	58.7+/-95.3	0,63,2140	146	130	135		1485	0.8	1	4	dbSNP_131	135	646,7954	164.6+/-216.9	28,590,3682	no	coding-synonymous	SCFD2	NM_152540.3		28,653,5822	CC,CT,TT		7.5116,1.4299,5.4513		495/685	54011576	709,12297	2203	4300	6503	SO:0001819	synonymous_variant	152579	exon5			TTTTTCTTCTGCT	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1485A>G	4.37:g.54011576T>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	151	84	0.556291	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	CCDS33984.1																																																																																			T|0.942;C|0.058	0.058	strong		0.443	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		C	54011576	T	C	54011576	2	2	23	1	0	0	0	0	0	0	0	1	13890	1606	56	3		3	SCFD2	4	54011576	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	259644	54011576	137142700	1171	17627										
KDR	3791	hgsc.bcm.edu	37	chr4	55973911	55973911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggccttactcacctgggctCgttggcgcactcttcctcca	9	16	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:55973911C>T	ENST00000263923.4	-	10	1700	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	469	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCTGGGCTCGTTGGCGCAC	0.512			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																											p.E469K		Atlas-SNP	.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	KDR,NS,carcinoma,0,1	KDR	307	1	0			c.G1405A						scavenged	.						165	141	149					4																	55973911		2203	4300	6503	SO:0001583	missense	3791	exon10			TGGGCTCGTTGGC	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1405G>A	4.37:g.55973911C>T	ENSP00000263923:p.Glu469Lys	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	161	2	0.0124224	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888541	0.17540	.	.	ENSG00000128052	ENST00000263923	T	0.75477	-0.94	5.29	-2.4	0.06583	Immunoglobulin subtype (1);Immunoglobulin-like (1);	2.299140	0.01142	N	0.006236	T	0.38321	0.1036	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49476	-0.8936	10	0.05959	T	0.93	.	1.3869	0.02242	0.1184:0.2106:0.2613:0.4097	.	469;469	P35968-2;P35968	.;VGFR2_HUMAN	K	469	ENSP00000263923:E469K	ENSP00000263923:E469K	E	-	1	0	KDR	55668668	0.002000	0.14202	0.000000	0.03702	0.436000	0.31835	0.095000	0.15127	-0.556000	0.06134	-0.657000	0.03884	GAG	.	.	none		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55973911	C	T	55973911	3	4	23	1	0	0	0	0	1	0	0	0	8139	893	31	1	2749	1	KDR	4	55973911	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1962335	55973911	135180365	1172	17628										
EXOC1	55763	hgsc.bcm.edu	37	chr4	56737278	56737278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atattctagaaccacatggaCttggccaaaggtcatataaa	7	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:56737278C>G	ENST00000381295.2	+	7	1191	c.843C>G	c.(841-843)gaC>gaG	p.D281E	EXOC1_ENST00000346134.7_Missense_Mutation_p.D281E|EXOC1_ENST00000349598.6_Missense_Mutation_p.D281E	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	281					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACCACATGGACTTGGCCAAAG	0.448																																					p.D281E		Atlas-SNP	.											.	EXOC1	103	.	0			c.C843G						PASS	.						98	86	90					4																	56737278		2203	4300	6503	SO:0001583	missense	55763	exon7			CATGGACTTGGCC	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.843C>G	4.37:g.56737278C>G	ENSP00000370695:p.Asp281Glu	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	158	77	0.487342	NM_018261	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040304	0.75732	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.97	4.23	0.50019	.	0.043036	0.85682	D	0.000000	T	0.63510	0.2517	L	0.58669	1.825	0.58432	D	0.999993	D;P	0.76494	0.999;0.95	D;P	0.80764	0.994;0.836	T	0.59669	-0.7411	9	0.11182	T	0.66	.	6.0347	0.19699	0.0:0.7065:0.0:0.2935	.	281;281	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	E	281	.	ENSP00000326514:D281E	D	+	3	2	EXOC1	56432035	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.604000	0.36804	2.833000	0.97629	0.585000	0.79938	GAC	.	.	none		0.448	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		G	56737278	C	G	56737278	3	3	23	1	0	0	0	0	1	0	0	0	5301	564	20	4	865	4	EXOC1	4	56737278	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	763367	56737278	134416998	1173	17629										
CEP135	9662	hgsc.bcm.edu	37	chr4	56874517	56874517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagctgttgctcaaatgaagAtaatgatctcagagtgtgaa	10	5	2	5	rs3214045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:56874517A>C	ENST00000257287.4	+	18	2429	c.2305A>C	c.(2305-2307)Ata>Cta	p.I769L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	769			I -> L (in dbSNP:rs3214045).		centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAAATGAAGATAATGATCTC	0.289													a|||	697	0.139177	0.087	0.1182	5008	,	,		18162	0.0913		0.2714	False		,,,				2504	0.138				p.I769L		Atlas-SNP	.											.	CEP135	115	.	0			c.A2305C						PASS	.	C	LEU/ILE	529,3877	237.1+/-249.0	28,473,1702	77	80	79		2305	-6.1	0	4	dbSNP_106	79	2212,6386	373.7+/-337.1	267,1678,2354	yes	missense	CEP135	NM_025009.3	5	295,2151,4056	CC,CA,AA		25.7269,12.0064,21.0781	benign	769/1141	56874517	2741,10263	2203	4299	6502	SO:0001583	missense	9662	exon18			ATGAAGATAATGA	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2305A>C	4.37:g.56874517A>C	ENSP00000257287:p.Ile769Leu	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	85	83	0.976471	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	360	0.16483516483516483	40	0.08130081300813008	45	0.12430939226519337	63	0.11013986013986014	212	0.2796833773087071	a	0.064	-1.216297	0.01542	0.120064	0.257269	ENSG00000174799	ENST00000257287	T	0.16597	2.33	5.62	-6.14	0.02111	.	0.837336	0.11284	N	0.580002	T	0.00012	0.0000	N	0.00879	-1.12	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	9	0.27082	T	0.32	.	7.6315	0.28243	0.3133:0.323:0.3638:0.0	rs3214045;rs52815254;rs61495232;rs3214045	769	Q66GS9	CP135_HUMAN	L	769	ENSP00000257287:I769L	ENSP00000257287:I769L	I	+	1	0	CEP135	56569274	0.062000	0.20869	0.003000	0.11579	0.010000	0.07245	-1.014000	0.03641	-0.994000	0.03463	-3.568000	0.00029	ATA	A|0.815;C|0.185;G|0.000	0.185	strong		0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		C	56874517	A	C	56874517	3	2	23	1	0	0	0	0	1	0	0	0	3247	333	12	5	2371	5	CEP135	4	56874517	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	137239	56874517	134279759	1174	17630										
PAICS	10606	hgsc.bcm.edu	37	chr4	57314905	57314905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgttgatgtaaccaccaaAgaaattgttcttgctgatgt	10	6	1	3	rs11549976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:57314905A>C	ENST00000512576.1	+	5	764	c.603A>C	c.(601-603)aaA>aaC	p.K201N	PAICS_ENST00000264221.2_Missense_Mutation_p.K201N|PAICS_ENST00000514888.1_Missense_Mutation_p.K109N|PAICS_ENST00000399688.3_Missense_Mutation_p.K208N	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	201	SAICAR synthetase.		K -> N (in dbSNP:rs11549976).		'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TAACCACCAAAGAAATTGTTC	0.368													A|||	93	0.0185703	0.0015	0.0144	5008	,	,		18801	0.0		0.0716	False		,,,				2504	0.0092				p.K208N	GBM(53;429 1144 8755 40726)	Atlas-SNP	.											.	PAICS	21	.	0			c.A624C						PASS	.	A	ASN/LYS,ASN/LYS,ASN/LYS	39,3733		0,39,1847	60	55	57		603,624,603	4.3	1	4	dbSNP_120	57	500,7720		19,462,3629	yes	missense,missense,missense	PAICS	NM_001079524.1,NM_001079525.1,NM_006452.3	94,94,94	19,501,5476	CC,CA,AA		6.0827,1.0339,4.4947	benign,benign,benign	201/426,208/433,201/426	57314905	539,11453	1886	4110	5996	SO:0001583	missense	10606	exon6			CACCAAAGAAATT	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.603A>C	4.37:g.57314905A>C	ENSP00000421096:p.Lys201Asn	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	238	120	0.504202	NM_001079525	E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	CCDS47061.1	63	0.028846153846153848	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	57	0.07519788918205805	A	15.48	2.847040	0.51164	0.010339	0.060827	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.53	4.35	0.52113	ATP-grasp fold, subdomain 2 (1);	0.133751	0.64402	D	0.000002	T	0.01287	0.0042	N	0.17474	0.49	0.50813	D	0.999898	B;B;B	0.17038	0.02;0.002;0.02	B;B;B	0.21360	0.034;0.007;0.034	T	0.03139	-1.1068	10	0.31617	T	0.26	-22.2505	8.4742	0.33003	0.8542:0.0:0.1458:0.0	rs11549976;rs17811673;rs11549976	201;208;201	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	N	109;201;201;208;201	ENSP00000424907:K109N;ENSP00000264221:K201N;ENSP00000424053:K201N;ENSP00000382595:K208N;ENSP00000421096:K201N	ENSP00000264221:K201N	K	+	3	2	PAICS	57009662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.636000	0.46545	2.236000	0.73375	0.533000	0.62120	AAA	A|0.968;C|0.032	0.032	strong		0.368	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		C	57314905	A	C	57314905	3	2	23	1	0	0	0	0	1	0	0	0	11395	69	3	5	646	5	PAICS	4	57314905	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	440388	57314905	133839371	1175	17631										
SRP72	6731	hgsc.bcm.edu	37	chr4	57333859	57333859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctgtggagtgaagtgaacCggtatggccagaacggcgac	16	9	0	3	rs111673705	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:57333859C>T	ENST00000342756.5	+	1	779	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SRP72_ENST00000504757.1_Missense_Mutation_p.R20W|SRP72_ENST00000510663.1_Missense_Mutation_p.R20W	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	20					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TGAAGTGAACCGGTATGGCCA	0.682													C|||	7	0.00139776	0.0	0.0014	5008	,	,		14363	0.0		0.005	False		,,,				2504	0.001				p.R20W		Atlas-SNP	.											.	SRP72	59	.	0			c.C58T						PASS	.	C	TRP/ARG	7,4399	9.9+/-24.2	0,7,2196	25	25	25		58	5.6	1	4	dbSNP_132	25	44,8556	22.8+/-68.1	0,44,4256	yes	missense	SRP72	NM_006947.3	101	0,51,6452	TT,TC,CC		0.5116,0.1589,0.3921	probably-damaging	20/672	57333859	51,12955	2203	4300	6503	SO:0001583	missense	6731	exon1			GTGAACCGGTATG	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.58C>T	4.37:g.57333859C>T	ENSP00000342181:p.Arg20Trp	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	151	85	0.562914	NM_006947	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	34	5.353558	0.95830	0.001589	0.005116	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.38401	1.14;1.14	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.976;0.98	T	0.59989	-0.7350	10	0.66056	D	0.02	.	15.0181	0.71605	0.0:1.0:0.0:0.0	.	20;20	G5E9Z8;O76094	.;SRP72_HUMAN	W	20;26;20	ENSP00000342181:R20W;ENSP00000424576:R20W	ENSP00000342181:R20W	R	+	1	2	SRP72	57028616	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.536000	0.60636	2.590000	0.87494	0.655000	0.94253	CGG	C|0.997;G|0.000;T|0.003	0.003	strong		0.682	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			T	57333859	C	T	57333859	3	4	23	1	0	0	0	0	1	0	0	0	15156	643	23	1	60	1	SRP72	4	57333859	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18954	57333859	133820417	1176	17632										
SRP72	6731	hgsc.bcm.edu	37	chr4	57366826	57366826	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggatcagattggaaaaggGacccagggagcaactgcagg	15	7	1	1	rs143643243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:57366826G>A	ENST00000342756.5	+	18	2524	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	SRP72_ENST00000510663.1_Silent_p.G540G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	601					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTGGAAAAGGGACCCAGGGAG	0.453																																					p.G601G		Atlas-SNP	.											.	SRP72	59	.	0			c.G1803A						PASS	.	G		6,4400	9.9+/-24.2	0,6,2197	51	50	50		1803	3.3	1	4	dbSNP_134	50	24,8576	16.6+/-54.9	0,24,4276	no	coding-synonymous	SRP72	NM_006947.3		0,30,6473	AA,AG,GG		0.2791,0.1362,0.2307		601/672	57366826	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	6731	exon18			AAAAGGGACCCAG	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1803G>A	4.37:g.57366826G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	118	78	0.661017	NM_006947	G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	CCDS3506.1																																																																																			G|0.998;A|0.002	0.002	strong		0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			A	57366826	G	A	57366826	2	1	23	1	0	0	0	0	0	0	0	1	15156	1161	41	2		2	SRP72	4	57366826	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32967	57366826	133787450	1177	17633										
POLR2B	5431	hgsc.bcm.edu	37	chr4	57889677	57889677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacttttctcagaactagCgagacgggcattgtggatca	11	9	2	2	rs1056364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:57889677C>T	ENST00000381227.1	+	20	3110	c.2697C>T	c.(2695-2697)agC>agT	p.S899S	POLR2B_ENST00000441246.2_Silent_p.S892S|POLR2B_ENST00000314595.5_Silent_p.S899S|POLR2B_ENST00000431623.2_Silent_p.S824S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	899					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.S899S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCAGAACTAGCGAGACGGGCA	0.393													C|||	2764	0.551917	0.4637	0.6412	5008	,	,		19700	0.6786		0.5845	False		,,,				2504	0.4438				p.S899S		Atlas-SNP	.											POLR2B,NS,carcinoma,0,1	POLR2B	108	1	1	Substitution - coding silent(1)	prostate(1)	c.C2697T						PASS	.	C		2143,2263	580.5+/-385.1	518,1107,578	106	104	105		2697	0.9	1	4	dbSNP_86	105	4946,3654	622.5+/-397.3	1418,2110,772	no	coding-synonymous	POLR2B	NM_000938.1		1936,3217,1350	TT,TC,CC		42.4884,48.6382,45.4944		899/1175	57889677	7089,5917	2203	4300	6503	SO:0001819	synonymous_variant	5431	exon19			AACTAGCGAGACG		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2697C>T	4.37:g.57889677C>T		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_000938	A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	CCDS3511.1																																																																																			C|0.436;T|0.564	0.564	strong		0.393	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		T	57889677	C	T	57889677	2	4	23	1	0	0	0	0	0	0	0	1	12215	767	27	1		1	POLR2B	4	57889677	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	522851	57889677	133264599	1178	17634										
TECRL	253017	hgsc.bcm.edu	37	chr4	65180425	65180425	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatcatatatacatgggatCctcaaataaaagaggaggta	8	7	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:65180425C>T	ENST00000381210.3	-	5	602	c.492G>A	c.(490-492)agG>agA	p.R164R	TECRL_ENST00000507440.1_Silent_p.R164R|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	164					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACATGGGATCCTCAAATAAA	0.378																																					p.R164R		Atlas-SNP	.											TECRL,NS,carcinoma,-2,1	TECRL	106	1	0			c.G492A						scavenged	.						115	111	112					4																	65180425		2203	4300	6503	SO:0001819	synonymous_variant	253017	exon5			TGGGATCCTCAAA	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.492G>A	4.37:g.65180425C>T		Somatic	459	0	0		WXS	Illumina HiSeq	Phase_I	440	5	0.0113636	NM_001010874		Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																			.	.	none		0.378	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		T	65180425	C	T	65180425	2	4	23	1	0	0	0	0	0	0	0	1	15743	854	30	2		2	TECRL	4	65180425	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7290748	65180425	125973851	1179	17635										
EPHA5	2044	hgsc.bcm.edu	37	chr4	66509085	66509085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttcataaaacttaccccaTtttttggaaaagcaatccat	3	10	1	0	rs33932471	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:66509085T>G	ENST00000273854.3	-	2	842	c.242A>C	c.(241-243)aAt>aCt	p.N81T	EPHA5_ENST00000432638.2_Missense_Mutation_p.N81T|EPHA5_ENST00000511294.1_Missense_Mutation_p.N81T|EPHA5_ENST00000354839.4_Missense_Mutation_p.N81T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	81	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		N -> T (in dbSNP:rs33932471). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTTACCCCATTTTTTGGAAA	0.338										TSP Lung(17;0.13)			T|||	133	0.0265575	0.0038	0.0303	5008	,	,		15740	0.001		0.0726	False		,,,				2504	0.0337				p.N81T		Atlas-SNP	.											.	EPHA5	315	.	0			c.A242C						PASS	.	T	THR/ASN,THR/ASN	61,4345	54.2+/-90.2	1,59,2143	54	55	54		242,242	5.4	1	4	dbSNP_126	54	550,8048	147.1+/-202.6	18,514,3767	yes	missense,missense	EPHA5	NM_004439.5,NM_182472.2	65,65	19,573,5910	GG,GT,TT		6.3968,1.3845,4.6986	possibly-damaging,possibly-damaging	81/1038,81/1016	66509085	611,12393	2203	4299	6502	SO:0001583	missense	2044	exon2			ACCCCATTTTTTG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.242A>C	4.37:g.66509085T>G	ENSP00000273854:p.Asn81Thr	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	179	83	0.463687	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	69	0.03159340659340659	2	0.0040650406504065045	11	0.03038674033149171	1	0.0017482517482517483	55	0.07255936675461741	T	19.81	3.897453	0.72639	0.013845	0.063968	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.03607	3.87;3.87;3.87;3.87	5.4	5.4	0.78164	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000006	T	0.00552	0.0018	L	0.28694	0.88	0.49687	D	0.999813	P;P;P;P	0.49358	0.875;0.772;0.713;0.923	P;B;P;P	0.52672	0.676;0.439;0.547;0.706	T	0.46624	-0.9178	10	0.54805	T	0.06	.	15.7089	0.77609	0.0:0.0:0.0:1.0	rs33932471	81;81;81;81	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	T	81	ENSP00000273854:N81T;ENSP00000389208:N81T;ENSP00000346899:N81T;ENSP00000427638:N81T	ENSP00000273854:N81T	N	-	2	0	EPHA5	66191680	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.320000	0.72876	2.162000	0.67917	0.377000	0.23210	AAT	T|0.959;G|0.041	0.041	strong		0.338	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		G	66509085	T	G	66509085	3	3	23	1	0	0	0	0	1	0	0	0	5170	1493	52	5	2939	5	EPHA5	4	66509085	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1328660	66509085	124645191	1180	17636										
TMPRSS11A	339967	hgsc.bcm.edu	37	chr4	68810246	68810246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgactcaccaaattttcGgtcgtctctcgtaagtcctt	6	13	2	1	rs1370840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:68810246G>A	ENST00000334830.7	-	3	989	c.243C>T	c.(241-243)acC>acT	p.T81T	TMPRSS11A_ENST00000508048.1_Silent_p.T80T|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.T81T			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	81	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.T81T(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CCAAATTTTCGGTCGTCTCTC	0.338													g|||	1638	0.327077	0.5537	0.3761	5008	,	,		18399	0.1885		0.2157	False		,,,				2504	0.2434				p.T81T	NSCLC(26;2 894 10941 14480 22546)	Atlas-SNP	.											TMPRSS11A,NS,carcinoma,0,1	TMPRSS11A	74	1	1	Substitution - coding silent(1)	stomach(1)	c.C243T						PASS	.	A	,	2178,2228	586.0+/-386.4	526,1126,551	164	168	166		243,243	-10.6	0	4	dbSNP_88	166	1451,7149	276.4+/-292.3	117,1217,2966	no	coding-synonymous,coding-synonymous	TMPRSS11A	NM_001114387.1,NM_182606.3	,	643,2343,3517	AA,AG,GG		16.8721,49.4326,27.9025	,	81/419,81/422	68810246	3629,9377	2203	4300	6503	SO:0001819	synonymous_variant	339967	exon3			ATTTTCGGTCGTC	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.243C>T	4.37:g.68810246G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	146	71	0.486301	NM_001114387	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Silent	SNP	ENST00000334830.7	37	CCDS3519.1																																																																																			G|0.710;A|0.290	0.290	strong		0.338	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		A	68810246	G	A	68810246	2	1	23	1	0	0	0	0	0	0	0	1	16236	1103	39	1		1	TMPRSS11A	4	68810246	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2301161	68810246	122344030	1181	17637										
TMPRSS11E	28983	hgsc.bcm.edu	37	chr4	69337325	69337325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccctaaagtagatcctcaCtcagttaaaattaaaagtaa	4	10	2	1	rs2603188	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:69337325C>G	ENST00000305363.4	+	5	538	c.474C>G	c.(472-474)caC>caG	p.H158Q		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	158	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.			H -> Q (in Ref. 3; AC019173). {ECO:0000305}.	cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAGATCCTCACTCAGTTAAAA	0.313													G|||	468	0.0934505	0.1248	0.0778	5008	,	,		13908	0.004		0.1551	False		,,,				2504	0.091				p.H158Q		Atlas-SNP	.											.	TMPRSS11E	40	.	0			c.C474G						PASS	.	G	GLN/HIS	470,3936	776.0+/-414.1	24,422,1757	102	107	105		474	-10.9	0	4	dbSNP_100	105	1212,7386	759.5+/-407.6	85,1042,3172	yes	missense	TMPRSS11E	NM_014058.3	24	109,1464,4929	GG,GC,CC		14.0963,10.6673,12.9345	benign	158/424	69337325	1682,11322	2203	4299	6502	SO:0001583	missense	28983	exon5			TCCTCACTCAGTT	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.474C>G	4.37:g.69337325C>G	ENSP00000307519:p.His158Gln	Somatic	397	1	0.00251889		WXS	Illumina HiSeq	Phase_I	321	156	0.485981	NM_014058	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	198	0.09065934065934066	56	0.11382113821138211	27	0.07458563535911603	1	0.0017482517482517483	114	0.1503957783641161	G	0.664	-0.804394	0.02819	0.106673	0.140963	ENSG00000087128	ENST00000305363	T	0.32272	1.46	5.83	-10.9	0.00192	.	0.725069	0.12235	N	0.487060	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23226	-1.0194	9	0.27082	T	0.32	.	9.7094	0.40236	0.2174:0.3911:0.3915:0.0	.	158	Q9UL52	TM11E_HUMAN	Q	158	ENSP00000307519:H158Q	ENSP00000307519:H158Q	H	+	3	2	TMPRSS11E	69019920	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-2.211000	0.01226	-1.724000	0.01373	-2.686000	0.00141	CAC	C|0.887;G|0.113	0.113	strong		0.313	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		G	69337325	C	G	69337325	3	3	23	1	0	0	0	0	1	0	0	0	16239	564	20	4	492	4	TMPRSS11E	4	69337325	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	527079	69337325	121816951	1182	17638										
UGT2B4	7363	hgsc.bcm.edu	37	chr4	70346564	70346564	+	Silent	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaatccagaagactgctcGatcaaggggcttcactggtt					rs67904882|rs13142440	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:70346564G>T	ENST00000305107.6	-	6	1421	c.1375C>A	c.(1375-1377)Cga>Aga	p.R459R	AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Silent_p.R323R|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	459					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R459*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAGACTGCTCGATCAAGGGGC	0.428													g|||	654	0.130591	0.1362	0.2205	5008	,	,		17789	0.0		0.2266	False		,,,				2504	0.0951				p.R459R		Atlas-SNP	.											UGT2B4,NS,carcinoma,0,1	UGT2B4	105	1	1	Substitution - Nonsense(1)	endometrium(1)	c.C1375A						PASS	.	G		631,3775		44,543,1616	113	113	113		1375	-1	0	4	dbSNP_121	113	2052,6548		260,1532,2508	no	coding-synonymous	UGT2B4	NM_021139.2		304,2075,4124	TT,TG,GG		23.8605,14.3214,20.6289		459/529	70346564	2683,10323	2203	4300	6503	SO:0001819	synonymous_variant	7363	exon6			CTGCTCGATCAAG	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1375C>A	4.37:g.70346564G>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	169	83	0.491124	NM_021139	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	CCDS43234.1																																																																																			TT|1.000;|0.000	.	alt		0.428	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		T	70346564	G	T	70346564	2	4	23	1	0	0	0	0	0	0	0	1	16958	1066	37	4		4	UGT2B4	4	70346564	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1009239	70346564	120807712	1183	17639	370	2								
UGT2B4	7363	hgsc.bcm.edu	37	chr4	70346565	70346565	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaatccagaagactgctcgAtcaaggggcttcactggttg					rs13119049|rs67904882	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:70346565A>T	ENST00000305107.6	-	6	1420	c.1374T>A	c.(1372-1374)gaT>gaA	p.D458E	AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D322E|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	458			D -> E (in dbSNP:rs13119049). {ECO:0000269|PubMed:10376768, ECO:0000269|Ref.7}.		cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AGACTGCTCGATCAAGGGGCT	0.428													a|||	654	0.130591	0.1362	0.2205	5008	,	,		17820	0.0		0.2266	False		,,,				2504	0.0951				p.D458E		Atlas-SNP	.											.	UGT2B4	105	.	0			c.T1374A						PASS	.	A	GLU/ASP	628,3778		44,540,1619	112	113	112		1374	-3.8	0	4	dbSNP_121	112	2045,6555		261,1523,2516	no	missense	UGT2B4	NM_021139.2	45	305,2063,4135	TT,TA,AA		23.7791,14.2533,20.5521	possibly-damaging	458/529	70346565	2673,10333	2203	4300	6503	SO:0001583	missense	7363	exon6			TGCTCGATCAAGG	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1374T>A	4.37:g.70346565A>T	ENSP00000305221:p.Asp458Glu	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	168	83	0.494048	NM_021139	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	257	0.11767399267399267	52	0.10569105691056911	71	0.19613259668508287	0	0.0	134	0.17678100263852242	A	13.26	2.184106	0.38609	0.142533	0.237791	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.72282	-0.64;-0.64	2.11	-3.83	0.04269	.	0.000000	0.64402	U	0.000002	T	0.00039	0.0001	L	0.45352	1.415	0.58432	P	5.999999999950489E-6	B;B	0.33413	0.411;0.388	P;P	0.50162	0.633;0.513	T	0.50101	-0.8867	9	0.87932	D	0	.	11.9884	0.53161	0.1949:0.0:0.8051:0.0	rs13119049;rs52797972	322;458	A6NCP7;P06133	.;UD2B4_HUMAN	E	458;322	ENSP00000305221:D458E;ENSP00000370486:D322E	ENSP00000305221:D458E	D	-	3	2	UGT2B4	70381154	0.392000	0.25229	0.004000	0.12327	0.636000	0.38137	0.578000	0.23773	-1.145000	0.02858	0.254000	0.18369	GAT	A|0.853;T|0.147	0.147	strong		0.428	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		T	70346565	A	T	70346565	3	4	23	1	0	0	0	0	1	0	0	0	16958	330	12	5	216	5	UGT2B4	4	70346565	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1	70346565	120807711	1184	17640	370	2								
UGT2A1	10941	hgsc.bcm.edu	37	chr4	70512773	70512773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttggtcggtgagttctgatAaaacagcaggaacataggaa	12	5	1	2	rs41292307	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:70512773A>G	ENST00000503640.1	-	1	645	c.590T>C	c.(589-591)tTa>tCa	p.L197S	UGT2A1_ENST00000512704.1_Missense_Mutation_p.L197S|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L197S|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L197S	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	197					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGTTCTGATAAAACAGCAGG	0.423													A|||	351	0.0700879	0.0038	0.0807	5008	,	,		18794	0.001		0.161	False		,,,				2504	0.1299				p.L197S		Atlas-SNP	.											.	UGT2A1	131	.	0			c.T590C						PASS	.	A	SER/LEU	167,4239	109.9+/-148.2	4,159,2040	92	80	84		590	5.8	0.4	4	dbSNP_127	84	1581,7017	294.8+/-302.1	136,1309,2854	yes	missense	UGT2A1	NM_006798.2	145	140,1468,4894	GG,GA,AA		18.388,3.7903,13.442	possibly-damaging	197/528	70512773	1748,11256	2203	4299	6502	SO:0001583	missense	10941	exon2			TCTGATAAAACAG	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.590T>C	4.37:g.70512773A>G	ENSP00000424478:p.Leu197Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	103	45	0.436893	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	149	0.06822344322344322	3	0.006097560975609756	31	0.0856353591160221	0	0.0	115	0.1517150395778364	A	14.39	2.519890	0.44866	0.037903	0.18388	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.64803	-0.12;0.02;-0.12;-0.12	5.78	5.78	0.91487	.	0.378699	0.25762	N	0.028474	T	0.00384	0.0012	L	0.49350	1.555	.	.	.	D;P;D;D	0.89917	1.0;0.92;1.0;0.999	D;B;D;D	0.79784	0.993;0.388;0.993;0.986	T	0.08146	-1.0736	9	0.54805	T	0.06	.	14.0552	0.64764	1.0:0.0:0.0:0.0	rs41292307	197;197;197;197	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	S	197	ENSP00000424478:L197S;ENSP00000421432:L197S;ENSP00000425497:L197S;ENSP00000286604:L197S	ENSP00000286604:L197S	L	-	2	0	UGT2A1	70547362	0.949000	0.32298	0.364000	0.25888	0.503000	0.33858	4.429000	0.59901	2.215000	0.71742	0.482000	0.46254	TTA	A|0.882;G|0.118	0.118	strong		0.423	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		G	70512773	A	G	70512773	3	3	23	1	0	0	0	0	1	0	0	0	16950	372	13	2	1017	2	UGT2A1	4	70512773	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	166208	70512773	120641503	1185	17641										
CSN1S1	1446	hgsc.bcm.edu	37	chr4	70807771	70807771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcctccctagcaagctgCccatgcccaggtgagattat	8	14	1	1	rs10030475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:70807771C>T	ENST00000246891.4	+	13	399	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CSN1S1_ENST00000507763.1_Missense_Mutation_p.A108V|CSN1S1_ENST00000444405.3_Missense_Mutation_p.A108V|CSN1S1_ENST00000505782.1_Missense_Mutation_p.A101V|CSN1S1_ENST00000507772.1_Missense_Mutation_p.A109V	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	117			A -> V (in dbSNP:rs10030475). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TAGCAAGCTGCCCATGCCCAG	0.294													T|||	1885	0.376398	0.3018	0.4568	5008	,	,		14991	0.2887		0.4085	False		,,,				2504	0.4775				p.A117V		Atlas-SNP	.											.	CSN1S1	20	.	0			c.C350T						PASS	.	T	VAL/ALA,VAL/ALA	1107,2457		211,685,886	23	22	23		323,350	-4.5	0	4	dbSNP_119	23	3160,4868		699,1762,1553	yes	missense,missense	CSN1S1	NM_001025104.1,NM_001890.1	64,64	910,2447,2439	TT,TC,CC		39.3622,31.0606,36.8099	benign,benign	108/177,117/186	70807771	4267,7325	1782	4014	5796	SO:0001583	missense	1446	exon13			AAGCTGCCCATGC	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.350C>T	4.37:g.70807771C>T	ENSP00000246891:p.Ala117Val	Somatic	267	1	0.00374532		WXS	Illumina HiSeq	Phase_I	291	290	0.996564	NM_001890	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	CCDS47067.1	755	0.3456959706959707	141	0.2865853658536585	155	0.4281767955801105	143	0.25	316	0.41688654353562005	T	0.289	-0.981317	0.02197	0.310606	0.393622	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.42131	1.05;0.98;0.98;0.98;0.99	4.61	-4.5	0.03493	.	.	.	.	.	T	0.00012	0.0000	N	0.11927	0.2	0.20489	P	0.9999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35425	-0.9789	8	0.02654	T	1	.	7.9829	0.30194	0.1153:0.4677:0.0:0.4171	rs10030475;rs52817786;rs58475257;rs10030475	109;108;117	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	V	117;108;108;109;101	ENSP00000246891:A117V;ENSP00000413157:A108V;ENSP00000422611:A108V;ENSP00000427490:A109V;ENSP00000426684:A101V	ENSP00000246891:A117V	A	+	2	0	CSN1S1	70842360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.097000	0.03349	-1.313000	0.02303	-3.067000	0.00067	GCC	C|0.659;T|0.341	0.341	strong		0.294	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			T	70807771	C	T	70807771	3	4	23	1	0	0	0	0	1	0	0	0	3947	739	26	2	396	2	CSN1S1	4	70807771	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	294998	70807771	120346505	1186	17642										
C4orf35	85438	hgsc.bcm.edu	37	chr4	71201943	71201943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccgatgagttcatgatttAaaagcaacaaaagggatacc	8	8	1	2	rs13039	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:71201943A>G	ENST00000273936.5	+	1	1261	c.1187A>G	c.(1186-1188)tAa>tGa	p.*396*		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	0					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCATGATTTAAAAGCAACAA	0.373													G|||	991	0.197883	0.2247	0.1902	5008	,	,		20279	0.1726		0.1948	False		,,,				2504	0.1963				p.X396X		Atlas-SNP	.											.	CABS1	75	.	0			c.A1187G						PASS	.	G		851,3551		74,703,1424	37	38	38		1187	1.9	1	4	dbSNP_52	38	1350,7246		99,1152,3047	no	coding-synonymous	CABS1	NM_033122.3		173,1855,4471	GG,GA,AA		15.705,19.3321,16.9334		396/396	71201943	2201,10797	2201	4298	6499	SO:0001819	synonymous_variant	85438	exon1			TGATTTAAAAGCA	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.1187A>G	4.37:g.71201943A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	118	46	0.38983	NM_033122	B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	CCDS3539.1																																																																																			A|0.812;G|0.188	0.188	strong		0.373	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		G	71201943	A	G	71201943	2	3	23	1	0	0	0	0	0	0	0	1	2265	369	13	2		2	C4orf35	4	71201943	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	394172	71201943	119952333	1187	17643										
SMR3A	26952	hgsc.bcm.edu	37	chr4	71227877	71227877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctttgggctcttgcagcGtgtttcacagtaagtatcat	11	9	3	0	rs62322478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:71227877G>A	ENST00000226460.4	+	2	141	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	15						extracellular region (GO:0005576)		p.A15A(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCTTGCAGCGTGTTTCACAG	0.353													G|||	642	0.128195	0.3321	0.0807	5008	,	,		18065	0.0		0.1143	False		,,,				2504	0.0327				p.A15A		Atlas-SNP	.											SMR3A,NS,carcinoma,0,1	SMR3A	35	1	1	Substitution - coding silent(1)	ovary(1)	c.G45A						PASS	.	G		1339,3067	428.5+/-341.9	175,989,1039	210	188	196		45	-5.1	0	4	dbSNP_129	196	913,7687	201.0+/-244.6	37,839,3424	no	coding-synonymous	SMR3A	NM_012390.3		212,1828,4463	AA,AG,GG		10.6163,30.3904,17.3151		15/135	71227877	2252,10754	2203	4300	6503	SO:0001819	synonymous_variant	26952	exon2			TGCAGCGTGTTTC	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"proline rich 5 (salivary)", "submaxillary gland androgen regulated protein 3 homolog A (mouse)"	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.45G>A	4.37:g.71227877G>A		Somatic	740	0	0		WXS	Illumina HiSeq	Phase_I	723	211	0.29184	NM_012390		Silent	SNP	ENST00000226460.4	37	CCDS34000.1																																																																																			G|0.881;A|0.119	0.119	strong		0.353	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		A	71227877	G	A	71227877	2	1	23	1	0	0	0	0	0	0	0	1	14811	1132	40	1		1	SMR3A	4	71227877	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25934	71227877	119926399	1188	17644										
MUC7	4589	hgsc.bcm.edu	37	chr4	71347333	71347333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccacaccttctgcaactaCaccagctccaccgtcttccc	3	21	2	0	rs72655156	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:71347333C>T	ENST00000304887.5	+	3	1062	c.872C>T	c.(871-873)aCa>aTa	p.T291I	MUC7_ENST00000456088.1_Missense_Mutation_p.T291I|MUC7_ENST00000413702.1_Missense_Mutation_p.T291I	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	291	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGCAACTACACCAGCTCCA	0.562													-|||	28	0.00559105	0.0	0.0086	5008	,	,		22130	0.0		0.0199	False		,,,				2504	0.002				p.T291I		Atlas-SNP	.											.	MUC7	91	.	0			c.C872T						PASS	.	C	ILE/THR,ILE/THR,ILE/THR	16,4390		0,16,2187	389	355	367		872,872,872	1.5	0	4	dbSNP_131	367	195,8405		1,193,4106	yes	missense,missense,missense	MUC7	NM_001145006.1,NM_001145007.1,NM_152291.2	89,89,89	1,209,6293	TT,TC,CC		2.2674,0.3631,1.6223	probably-damaging,probably-damaging,probably-damaging	291/378,291/378,291/378	71347333	211,12795	2203	4300	6503	SO:0001583	missense	4589	exon4			CAACTACACCAGC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.872C>T	4.37:g.71347333C>T	ENSP00000302021:p.Thr291Ile	Somatic	398	1	0.00251256		WXS	Illumina HiSeq	Phase_I	409	185	0.452323	NM_001145007	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	24	0.01098901098901099	0	0.0	6	0.016574585635359115	0	0.0	18	0.023746701846965697	-	9.647	1.140465	0.21205	0.003631	0.022674	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.58210	0.35;0.35;0.35	1.52	1.52	0.23074	.	.	.	.	.	T	0.36276	0.0961	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.28713	-1.0035	8	.	.	.	.	8.9663	0.35879	0.0:1.0:0.0:0.0	.	291	Q8TAX7	MUC7_HUMAN	I	291	ENSP00000407422:T291I;ENSP00000400585:T291I;ENSP00000302021:T291I	.	T	+	2	0	MUC7	71381922	0.384000	0.25164	0.002000	0.10522	0.002000	0.02628	3.421000	0.52742	1.122000	0.41944	0.505000	0.49811	ACA	C|0.985;T|0.015	0.015	strong		0.562	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		T	71347333	C	T	71347333	3	4	23	1	0	0	0	0	1	0	0	0	9981	478	17	2	878	2	MUC7	4	71347333	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	119456	71347333	119806943	1189	17645										
PF4V1	5197	hgsc.bcm.edu	37	chr4	74719624	74719624	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgccccactgcccaactCatgtgagtcctcgcactgca	7	18	1	1	rs34446485	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:74719624C>G	ENST00000226524.3	+	2	399	c.225C>G	c.(223-225)ctC>ctG	p.L75L		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	75					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTGCCCAACTCATGTGAGTCC	0.602																																					p.L75L		Atlas-SNP	.											PF4V1,NS,carcinoma,0,1	PF4V1	8	1	0			c.C225G						scavenged	.	C		81,4307	17.9+/-39.9	7,67,2120	66	74	71		225	-2.3	0.1	4	dbSNP_126	71	31,8565	1.2+/-3.3	3,25,4270	no	coding-synonymous	PF4V1	NM_002620.2		10,92,6390	GG,GC,CC		0.3606,1.8459,0.8626		75/105	74719624	112,12872	2194	4298	6492	SO:0001819	synonymous_variant	5197	exon2			CCAACTCATGTGA	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.225C>G	4.37:g.74719624C>G		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	123	25	0.203252	NM_002620	A1L4S0	Silent	SNP	ENST00000226524.3	37	CCDS3561.1																																																																																			C|0.981;G|0.019	0.019	strong		0.602	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			G	74719624	C	G	74719624	2	3	23	1	0	0	0	0	0	0	0	1	11753	813	29	4		4	PF4V1	4	74719624	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3372291	74719624	116434652	1190	17646										
NUP54	53371	hgsc.bcm.edu	37	chr4	77038912	77038912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcctgatttgagacatcaAttcatttagtcggccctaaa	6	10	2	2	rs144785979	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:77038912A>T	ENST00000264883.3	-	11	1440	c.1300T>A	c.(1300-1302)Ttg>Atg	p.L434M	NUP54_ENST00000458189.2_Missense_Mutation_p.L254M|NUP54_ENST00000514987.1_Missense_Mutation_p.L386M|NUP54_ENST00000342467.6_Missense_Mutation_p.L218M	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	434	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGAGACATCAATTCATTTAGT	0.373													A|||	2	0.000399361	0.0	0.0	5008	,	,		20100	0.0		0.002	False		,,,				2504	0.0				p.L434M		Atlas-SNP	.											.	NUP54	48	.	0			c.T1300A						PASS	.	A	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	116	109	111		1300	-1.2	1	4	dbSNP_134	111	4,8594	3.7+/-12.6	0,4,4295	yes	missense	NUP54	NM_017426.2	15	0,5,6497	TT,TA,AA		0.0465,0.0227,0.0384	possibly-damaging	434/508	77038912	5,12999	2203	4299	6502	SO:0001583	missense	53371	exon11			ACATCAATTCATT	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1300T>A	4.37:g.77038912A>T	ENSP00000264883:p.Leu434Met	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	256	115	0.449219	NM_017426	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	A	13.35	2.209809	0.39003	2.27E-4	4.65E-4	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.88	-1.16	0.09678	.	0.000000	0.64402	D	0.000001	T	0.64757	0.2627	M	0.75615	2.305	0.47905	D	0.999546	P;P;D	0.52996	0.926;0.918;0.957	P;B;P	0.56612	0.802;0.436;0.802	T	0.64419	-0.6412	9	0.49607	T	0.09	-7.8541	9.651	0.39897	0.1989:0.1983:0.6027:0.0	.	386;218;434	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	M	434;218;386;254	.	ENSP00000264883:L434M	L	-	1	2	NUP54	77257936	0.991000	0.36638	0.980000	0.43619	0.416000	0.31233	0.731000	0.26058	-0.151000	0.11176	-2.917000	0.00090	TTG	A|0.999;T|0.001	0.001	strong		0.373	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			T	77038912	A	T	77038912	3	4	23	1	0	0	0	0	1	0	0	0	10767	98	4	5	231	5	NUP54	4	77038912	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2319288	77038912	114115364	1191	17647										
HPSE	10855	hgsc.bcm.edu	37	chr4	84227453	84227453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcccattcgggctgacaggCccaatttatccagccacctg	8	15	0	1	rs138882001	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:84227453C>T	ENST00000405413.2	-	10	1245	c.1109G>A	c.(1108-1110)gGc>gAc	p.G370D	HPSE_ENST00000513463.1_Missense_Mutation_p.G312D|HPSE_ENST00000311412.5_Missense_Mutation_p.G370D|HPSE_ENST00000512196.1_Intron	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	370					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GGCTGACAGGCCCAATTTATC	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		17899	0.0		0.001	False		,,,				2504	0.001				p.G370D		Atlas-SNP	.											HPSE,right_upper_lobe,carcinoma,0,1	HPSE	55	1	0			c.G1109A						scavenged	.	C	ASP/GLY,,ASP/GLY,ASP/GLY	6,4400	11.4+/-27.6	0,6,2197	105	97	100		1109,,935,1109	5.1	1	4	dbSNP_134	100	16,8584	11.9+/-42.8	0,16,4284	yes	missense,intron,missense,missense	HPSE	NM_001098540.2,NM_001166498.2,NM_001199830.1,NM_006665.5	94,,94,94	0,22,6481	TT,TC,CC		0.186,0.1362,0.1692	probably-damaging,,probably-damaging,probably-damaging	370/544,,312/486,370/544	84227453	22,12984	2203	4300	6503	SO:0001583	missense	10855	exon9			GACAGGCCCAATT	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1109G>A	4.37:g.84227453C>T	ENSP00000384262:p.Gly370Asp	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	90	40	0.444444	NM_001098540	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639598	0.87760	0.001362	0.00186	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000454730;ENST00000513463	T;T;T	0.56275	0.47;0.47;0.47	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049396	0.85682	D	0.000000	T	0.79759	0.4501	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	D	0.84676	0.0714	10	0.72032	D	0.01	-12.7363	18.2572	0.90023	0.0:1.0:0.0:0.0	.	312;312;370	A9JIG7;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	D	370;370;84;312	ENSP00000308107:G370D;ENSP00000384262:G370D;ENSP00000421365:G312D	ENSP00000308107:G370D	G	-	2	0	HPSE	84446477	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.760000	0.74939	2.637000	0.89404	0.491000	0.48974	GGC	C|0.999;T|0.001	0.001	strong		0.423	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		T	84227453	C	T	84227453	3	4	23	1	0	0	0	0	1	0	0	0	7344	739	26	2	538	2	HPSE	4	84227453	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7188541	84227453	106926823	1192	17648										
HELQ	113510	hgsc.bcm.edu	37	chr4	84370091	84370091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttcttgcacagaattcaAtgttaaacaagtatgttgcc	6	8	3	1	rs13141136	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:84370091A>G	ENST00000295488.3	-	3	1198	c.1036T>C	c.(1036-1038)Ttg>Ctg	p.L346L	HELQ_ENST00000510985.1_Silent_p.L346L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	346	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACAGAATTCAATGTTAAACAA	0.318								Other identified genes with known or suspected DNA repair function					A|||	2076	0.414537	0.1059	0.5245	5008	,	,		16998	0.6766		0.3787	False		,,,				2504	0.5204				p.L346L		Atlas-SNP	.											.	HELQ	95	.	0			c.T1036C						PASS	.	A		687,3715	266.2+/-267.1	54,579,1568	37	37	37		1036	-6.4	0.3	4	dbSNP_121	37	3504,5090	492.3+/-373.3	712,2080,1505	no	coding-synonymous	HELQ	NM_133636.2		766,2659,3073	GG,GA,AA		40.7726,15.6065,32.2484		346/1102	84370091	4191,8805	2201	4297	6498	SO:0001819	synonymous_variant	113510	exon3			AATTCAATGTTAA	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1036T>C	4.37:g.84370091A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	51	29	0.568627	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																			A|0.654;G|0.346	0.346	strong		0.318	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84370091	A	G	84370091	2	3	23	1	0	0	0	0	0	0	0	1	7047	98	4	2		2	HELQ	4	84370091	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	142638	84370091	106784185	1193	17649										
HELQ	113510	hgsc.bcm.edu	37	chr4	84374480	84374480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcatttgatgatgactcaaCtgttttcttagcaacattaa	6	7	3	3	rs1494961	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:84374480C>T	ENST00000295488.3	-	2	1078	c.916G>A	c.(916-918)Gtt>Att	p.V306I	HELQ_ENST00000510985.1_Missense_Mutation_p.V306I|MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000440639.2_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000507349.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	306				V -> I (in Ref. 1; AAL85274, 2; BAC87559 and 4; AAH95473). {ECO:0000305}.	double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GATGACTCAACTGTTTTCTTA	0.373								Other identified genes with known or suspected DNA repair function					T|||	3328	0.664537	0.826	0.6441	5008	,	,		19522	0.6776		0.4901	False		,,,				2504	0.6268				p.V306I		Atlas-SNP	.											.	HELQ	95	.	0			c.G916A						PASS	.	T	ILE/VAL	3420,986	366.8+/-318.0	1321,778,104	98	102	101	http://www.ncbi.nlm.nih.gov/pubmed?term	916	2.3	0.9	4	dbSNP_88	101	4311,4289	576.2+/-390.4	1082,2147,1071	yes	missense	HELQ	NM_133636.2	29	2403,2925,1175	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	49.8721,22.3786,40.5582	benign	306/1102	84374480	7731,5275	2203	4300	6503	SO:0001583	missense	113510	exon2			ACTCAACTGTTTT	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.916G>A	4.37:g.84374480C>T	ENSP00000295488:p.Val306Ile	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	249	130	0.522088	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	1367	0.6259157509157509	401	0.8150406504065041	220	0.6077348066298343	371	0.6486013986013986	375	0.4947229551451187	T	4.651	0.120977	0.08881	0.776214	0.501279	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.57595	0.39;1.35	5.92	2.29	0.28610	.	0.284381	0.36234	N	0.002702	T	0.00012	0.0000	N	0.00801	-1.175	0.58432	P	1.0000000000287557E-6	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	0.26326	-1.0106	9	0.25751	T	0.34	-5.3209	5.8264	0.18556	0.0:0.1996:0.2338:0.5666	rs1494961;rs3733332;rs17354958;rs59130103;rs1494961	306;306;269;306	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	I	306	ENSP00000295488:V306I;ENSP00000424539:V306I	ENSP00000295488:V306I	V	-	1	0	HELQ	84593504	1.000000	0.71417	0.944000	0.38274	0.925000	0.55904	2.390000	0.44416	0.166000	0.19597	-0.254000	0.11334	GTT	C|0.384;N|0.000	.	strong		0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		T	84374480	C	T	84374480	3	4	23	1	0	0	0	0	1	0	0	0	7047	565	20	2	2457	2	HELQ	4	84374480	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4389	84374480	106779796	1194	17650										
SLC10A6	345274	hgsc.bcm.edu	37	chr4	87769929	87769929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaacccagaaggtgaaaaTgttagagatggtgccccccg	11	10	1	3	rs13106574	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:87769929T>C	ENST00000273905.6	-	1	487	c.340A>G	c.(340-342)Att>Gtt	p.I114V	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	114			I -> V (in dbSNP:rs13106574). {ECO:0000269|PubMed:15489334}.		sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAGGTGAAAATGTTAGAGATG	0.488													T|||	495	0.0988419	0.118	0.1268	5008	,	,		17437	0.001		0.1769	False		,,,				2504	0.0736				p.I114V		Atlas-SNP	.											.	SLC10A6	40	.	0			c.A340G						PASS	.	T	VAL/ILE	518,3888	237.4+/-249.2	30,458,1715	78	84	82		340	2.6	1	4	dbSNP_121	82	1726,6874	315.7+/-312.4	178,1370,2752	yes	missense	SLC10A6	NM_197965.2	29	208,1828,4467	CC,CT,TT		20.0698,11.7567,17.2536	benign	114/378	87769929	2244,10762	2203	4300	6503	SO:0001583	missense	345274	exon1			TGAAAATGTTAGA	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.340A>G	4.37:g.87769929T>C	ENSP00000273905:p.Ile114Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	144	56	0.388889	NM_197965	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	224	0.10256410256410256	54	0.10975609756097561	46	0.1270718232044199	0	0.0	124	0.16358839050131926	T	10.69	1.422271	0.25639	0.117567	0.200698	ENSG00000145283	ENST00000273905	T	0.08984	3.03	5.59	2.64	0.31445	.	0.077016	0.52532	N	0.000071	T	0.00012	0.0000	N	0.13272	0.32	0.41065	P	0.014599000000000029	B	0.25169	0.119	B	0.31812	0.136	T	0.47394	-0.9121	9	0.15066	T	0.55	-17.4279	5.4631	0.16627	0.0:0.1238:0.1603:0.7158	rs13106574;rs52789983;rs59733764;rs13106574	114	Q3KNW5	SOAT_HUMAN	V	114	ENSP00000273905:I114V	ENSP00000273905:I114V	I	-	1	0	SLC10A6	87988953	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	1.263000	0.33004	0.751000	0.32900	0.533000	0.62120	ATT	T|0.854;C|0.146	0.146	strong		0.488	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		C	87769929	T	C	87769929	3	2	23	1	0	0	0	0	1	0	0	0	14378	1464	51	2	817	2	SLC10A6	4	87769929	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3395449	87769929	103384347	1195	17651										
C4orf36	132989	hgsc.bcm.edu	37	chr4	87809020	87809020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtttacaaagacgcttcaCttcatactccctttcgagtt	5	12	2	1	rs72613147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:87809020C>G	ENST00000473559.1	-	7	910	c.247G>C	c.(247-249)Gtg>Ctg	p.V83L	C4orf36_ENST00000295898.3_Missense_Mutation_p.V83L|C4orf36_ENST00000503001.1_5'Flank			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	83								p.V83L(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGACGCTTCACTTCATACTCC	0.378													C|||	736	0.146965	0.0121	0.1945	5008	,	,		22337	0.1825		0.1759	False		,,,				2504	0.229				p.V83L		Atlas-SNP	.											C4orf36,NS,carcinoma,0,1	C4orf36	10	1	1	Substitution - Missense(1)	prostate(1)	c.G247C						PASS	.	C	LEU/VAL	169,4237	112.1+/-150.2	7,155,2041	84	78	80		247	0.2	1	4	dbSNP_130	80	1555,7045	291.7+/-300.5	137,1281,2882	yes	missense	C4orf36	NM_144645.3	32	144,1436,4923	GG,GC,CC		18.0814,3.8357,13.2554	benign	83/118	87809020	1724,11282	2203	4300	6503	SO:0001583	missense	132989	exon4			GCTTCACTTCATA	BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.247G>C	4.37:g.87809020C>G	ENSP00000420949:p.Val83Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	125	60	0.48	NM_144645		Missense_Mutation	SNP	ENST00000473559.1	37	CCDS3615.1	323	0.1478937728937729	11	0.022357723577235773	60	0.16574585635359115	118	0.2062937062937063	134	0.17678100263852242	C	7.612	0.675093	0.14841	0.038357	0.180814	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308	T;T;T	0.31247	1.5;1.5;1.5	5.23	0.167	0.15006	.	0.618498	0.16276	N	0.221587	T	0.00012	0.0000	N	0.03608	-0.345	0.51767	P	6.700000000003925E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.35599	-0.9782	9	0.06099	T	0.92	-8.0956	4.5836	0.12271	0.0:0.2137:0.4169:0.3693	.	83	Q96KX1	CD036_HUMAN	L	83	ENSP00000295898:V83L;ENSP00000420949:V83L;ENSP00000421141:V83L	ENSP00000295898:V83L	V	-	1	0	C4orf36	88028044	0.888000	0.30383	0.994000	0.49952	0.447000	0.32167	0.418000	0.21230	0.137000	0.18759	-0.311000	0.09066	GTG	C|0.864;G|0.136	0.136	strong		0.378	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645		G	87809020	C	G	87809020	3	3	23	1	0	0	0	0	1	0	0	0	2266	565	20	4	110	4	C4orf36	4	87809020	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39091	87809020	103345256	1196	17652										
HSD17B13	345275	hgsc.bcm.edu	37	chr4	88231429	88231429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagatattgatatacgatgGaacaaaaatcattttcttat	5	4	2	2	rs62305723	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88231429G>A	ENST00000328546.4	-	6	842	c.778C>T	c.(778-780)Cca>Tca	p.P260S	HSD17B13_ENST00000302219.6_Missense_Mutation_p.P224S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	260				P -> S (in Ref. 1; AAO72313). {ECO:0000305}.		extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATATACGATGGAACAAAAATC	0.323													G|||	111	0.0221645	0.0038	0.0389	5008	,	,		15464	0.0		0.0616	False		,,,				2504	0.0174				p.P260S		Atlas-SNP	.											.	HSD17B13	27	.	0			c.C778T						PASS	.	G	SER/PRO,SER/PRO	52,4352	50.9+/-86.3	0,52,2150	101	104	103		670,778	5.1	1	4	dbSNP_129	103	572,8028	154.2+/-208.4	21,530,3749	yes	missense,missense	HSD17B13	NM_001136230.1,NM_178135.3	74,74	21,582,5899	AA,AG,GG		6.6512,1.1807,4.7985	probably-damaging,probably-damaging	224/265,260/301	88231429	624,12380	2202	4300	6502	SO:0001583	missense	345275	exon6			ACGATGGAACAAA		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.778C>T	4.37:g.88231429G>A	ENSP00000333300:p.Pro260Ser	Somatic	365	1	0.00273973		WXS	Illumina HiSeq	Phase_I	265	130	0.490566	NM_178135	A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	CCDS3618.1	66	0.03021978021978022	2	0.0040650406504065045	18	0.049723756906077346	0	0.0	46	0.06068601583113457	G	19.06	3.753468	0.69648	0.011807	0.066512	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.89875	-2.58;-2.58	5.08	5.08	0.68730	.	0.195954	0.34725	N	0.003734	T	0.70351	0.3214	M	0.86573	2.825	0.43242	D	0.995157	D;D	0.71674	0.998;0.998	D;D	0.72625	0.978;0.937	T	0.81814	-0.0760	10	0.72032	D	0.01	.	17.3259	0.87246	0.0:0.0:1.0:0.0	rs62305723	224;260	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	S	224;260	ENSP00000305438:P224S;ENSP00000333300:P260S	ENSP00000305438:P224S	P	-	1	0	HSD17B13	88450453	1.000000	0.71417	0.970000	0.41538	0.652000	0.38707	5.652000	0.67959	2.358000	0.79984	0.650000	0.86243	CCA	G|0.956;A|0.044	0.044	strong		0.323	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		A	88231429	G	A	88231429	3	1	23	1	0	0	0	0	1	0	0	0	7382	1174	41	2	132	2	HSD17B13	4	88231429	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	422409	88231429	102922847	1197	17653										
SPARCL1	8404	hgsc.bcm.edu	37	chr4	88412806	88412806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgttgccttcacttgacgTttcctcctcatttgatgagt	7	11	2	3	rs1130643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88412806T>C	ENST00000282470.6	-	5	1725	c.1255A>G	c.(1255-1257)Acg>Gcg	p.T419A	SPARCL1_ENST00000418378.1_Missense_Mutation_p.T419A|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	419			T -> A (in dbSNP:rs1130643).		signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TCACTTGACGTTTCCTCCTCA	0.393													T|||	1101	0.219848	0.5061	0.1311	5008	,	,		19417	0.1538		0.1243	False		,,,				2504	0.0624				p.T419A		Atlas-SNP	.											.	SPARCL1	59	.	0			c.A1255G						PASS	.	T	ALA/THR,ALA/THR	1998,2408	558.6+/-380.0	441,1116,646	298	237	258		1255,1255	-4.3	0	4	dbSNP_86	258	1118,7482	231.4+/-265.4	67,984,3249	yes	missense,missense	SPARCL1	NM_001128310.1,NM_004684.4	58,58	508,2100,3895	CC,CT,TT		13.0,45.3473,23.9582	benign,benign	419/665,419/665	88412806	3116,9890	2203	4300	6503	SO:0001583	missense	8404	exon5			TTGACGTTTCCTC	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1255A>G	4.37:g.88412806T>C	ENSP00000282470:p.Thr419Ala	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	132	70	0.530303	NM_004684	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	429	0.19642857142857142	211	0.42886178861788615	52	0.143646408839779	66	0.11538461538461539	100	0.13192612137203166	T	4.774	0.143962	0.09134	0.453473	0.13	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.89343	-2.5;-2.5;-2.5	5.18	-4.28	0.03732	.	1.245570	0.04943	N	0.459008	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.19257	-1.0311	9	0.07644	T	0.81	3.0442	1.8177	0.03104	0.1153:0.2416:0.3399:0.3033	rs1130643;rs2219682;rs3189727;rs52819302;rs60236995;rs1130643	419	Q14515	SPRL1_HUMAN	A	419;419;294;294	ENSP00000282470:T419A;ENSP00000414856:T419A;ENSP00000422903:T294A	ENSP00000282470:T419A	T	-	1	0	SPARCL1	88631830	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.309000	0.08145	-0.779000	0.04560	-0.327000	0.08410	ACG	T|0.777;C|0.223	0.223	strong		0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			C	88412806	T	C	88412806	3	2	23	1	0	0	0	0	1	0	0	0	14995	1725	60	2	767	2	SPARCL1	4	88412806	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	181377	88412806	102741470	1198	17654										
SPARCL1	8404	hgsc.bcm.edu	37	chr4	88415636	88415636	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccaaattcacacttaagtGaccatcactgtcctcttgat	4	13	3	2	rs1049544	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88415636G>C	ENST00000282470.6	-	4	786	c.316C>G	c.(316-318)Cac>Gac	p.H106D	SPARCL1_ENST00000418378.1_Missense_Mutation_p.H106D|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	106			H -> D (in dbSNP:rs1049544). {ECO:0000269|PubMed:7600298}.		signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H106D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ACACTTAAGTGACCATCACTG	0.428													C|||	2883	0.575679	0.8828	0.5043	5008	,	,		19259	0.4375		0.3787	False		,,,				2504	0.5562				p.H106D		Atlas-SNP	.											SPARCL1,NS,carcinoma,0,1	SPARCL1	59	1	1	Substitution - Missense(1)	stomach(1)	c.C316G						PASS	.	C	ASP/HIS,ASP/HIS	3557,849	333.3+/-302.9	1435,687,81	146	137	140		316,316	4.2	0	4	dbSNP_86	140	3197,5403	652.8+/-401.0	601,1995,1704	yes	missense,missense	SPARCL1	NM_001128310.1,NM_004684.4	81,81	2036,2682,1785	CC,CG,GG		37.1744,19.2692,48.0701	benign,benign	106/665,106/665	88415636	6754,6252	2203	4300	6503	SO:0001583	missense	8404	exon4			TTAAGTGACCATC	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.316C>G	4.37:g.88415636G>C	ENSP00000282470:p.His106Asp	Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	275	273	0.992727	NM_004684	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	1128	0.5164835164835165	433	0.8800813008130082	189	0.5220994475138122	231	0.40384615384615385	275	0.3627968337730871	C	0.004	-2.345033	0.00222	0.807308	0.371744	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.1	4.25	0.50352	.	0.302477	0.31760	N	0.007107	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39333	-0.9619	9	0.02654	T	1	-9.5256	7.9807	0.30181	0.0:0.7512:0.1608:0.088	rs1049544;rs3189722;rs3763393;rs17846057;rs17859050;rs52829980;rs59760974;rs1049544	106	Q14515	SPRL1_HUMAN	D	106	ENSP00000282470:H106D;ENSP00000414856:H106D;ENSP00000423483:H106D;ENSP00000416971:H106D;ENSP00000438188:H106D;ENSP00000423448:H106D	ENSP00000282470:H106D	H	-	1	0	SPARCL1	88634660	0.001000	0.12720	0.015000	0.15790	0.002000	0.02628	0.940000	0.28992	0.820000	0.34516	-0.120000	0.15030	CAC	G|0.488;C|0.512	0.512	strong		0.428	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			C	88415636	G	C	88415636	3	2	23	1	0	0	0	0	1	0	0	0	14995	1290	45	4	1710	4	SPARCL1	4	88415636	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2830	88415636	102738640	1199	17655										
SPARCL1	8404	hgsc.bcm.edu	37	chr4	88416188	88416188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctttttcattttcttcaGcttcagcccttaaactgggg	6	10	5	0	rs13051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88416188G>T	ENST00000282470.6	-	3	616	c.146C>A	c.(145-147)gCt>gAt	p.A49D	SPARCL1_ENST00000418378.1_Missense_Mutation_p.A49D|SPARCL1_ENST00000503414.1_De_novo_Start_OutOfFrame	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	49			A -> D (in dbSNP:rs13051). {ECO:0000269|PubMed:7600298}.		signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A49D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTTTCTTCAGCTTCAGCCCT	0.353													T|||	2881	0.57528	0.882	0.5029	5008	,	,		16934	0.4375		0.3787	False		,,,				2504	0.5562				p.A49D		Atlas-SNP	.											SPARCL1,NS,carcinoma,0,1	SPARCL1	59	1	1	Substitution - Missense(1)	stomach(1)	c.C146A						scavenged	.	T	ASP/ALA,ASP/ALA	3556,850	333.3+/-302.9	1435,686,82	155	164	161		146,146	3	0.9	4	dbSNP_52	161	3196,5404	653.0+/-401.0	601,1994,1705	yes	missense,missense	SPARCL1	NM_001128310.1,NM_004684.4	126,126	2036,2680,1787	TT,TG,GG		37.1628,19.2919,48.0855	benign,benign	49/665,49/665	88416188	6752,6254	2203	4300	6503	SO:0001583	missense	8404	exon3			TCTTCAGCTTCAG	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.146C>A	4.37:g.88416188G>T	ENSP00000282470:p.Ala49Asp	Somatic	329	2	0.00607903		WXS	Illumina HiSeq	Phase_I	265	259	0.977359	NM_004684	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	1128	0.5164835164835165	433	0.8800813008130082	189	0.5220994475138122	231	0.40384615384615385	275	0.3627968337730871	T	0.010	-1.742076	0.00675	0.807081	0.371628	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631;ENST00000458304	T;T;T;T;T;T;T;T	0.49720	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.77	4.1	3.02	0.34903	.	0.436671	0.23219	N	0.050581	T	0.00012	0.0000	N	0.01168	-0.975	0.53005	P	3.399999999997849E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	9	0.09338	T	0.73	-1.8696	8.876	0.35345	0.0:0.0:0.514:0.486	rs13051;rs1049542;rs3189720;rs7698628;rs17855569;rs60110307;rs13051	49	Q14515	SPRL1_HUMAN	D	49	ENSP00000282470:A49D;ENSP00000414856:A49D;ENSP00000423483:A49D;ENSP00000416971:A49D;ENSP00000438188:A49D;ENSP00000423448:A49D;ENSP00000444832:A49D;ENSP00000406251:A49D	ENSP00000282470:A49D	A	-	2	0	SPARCL1	88635212	0.942000	0.31987	0.909000	0.35828	0.011000	0.07611	0.896000	0.28377	0.458000	0.26988	-0.256000	0.11100	GCT	G|0.474;T|0.526	0.526	strong		0.353	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			T	88416188	G	T	88416188	3	4	23	1	0	0	0	0	1	0	0	0	14995	971	34	4	1884	4	SPARCL1	4	88416188	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	552	88416188	102738088	1200	17656										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537475	88537475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgacagcagtgacagcagcGacagcagtgacagcagcgac	14	12	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88537475G>A	ENST00000282478.7	+	4	3694	c.3661G>A	c.(3661-3663)Gac>Aac	p.D1221N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1221N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1221	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgacagcagtga	0.562																																					p.D1221N		Atlas-SNP	.											DSPP,colon,carcinoma,-1,1	DSPP	174	1	0			c.G3661A						scavenged	.						39	58	51					4																	88537475		1603	2881	4484	SO:0001583	missense	1834	exon5			AGCAGCGACAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3661G>A	4.37:g.88537475G>A	ENSP00000282478:p.Asp1221Asn	Somatic	416	1	0.00240385		WXS	Illumina HiSeq	Phase_I	453	7	0.0154525	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	0.597	-0.830744	0.02734	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	3.37	1.6	0.23607	.	0.805118	0.10088	N	0.717527	T	0.79417	0.4442	L	0.34521	1.04	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.60010	-0.7346	10	0.08381	T	0.77	-4.9874	6.3302	0.21266	0.2478:0.0:0.7522:0.0	.	1221	Q9NZW4	DSPP_HUMAN	N	1221	ENSP00000382213:D1221N;ENSP00000282478:D1221N	ENSP00000282478:D1221N	D	+	1	0	DSPP	88756499	0.006000	0.16342	0.011000	0.14972	0.004000	0.04260	0.311000	0.19380	0.235000	0.21160	-1.261000	0.01458	GAC	.	.	none		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537475	G	A	88537475	3	1	23	1	0	0	0	0	1	0	0	0	4782	1058	37	1	3675	1	DSPP	4	88537475	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	121287	88537475	102616801	1201	17657										
MEPE	56955	hgsc.bcm.edu	37	chr4	88767008	88767008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcgaaagaggcagatgctGttgatgtcagccttgtagag	14	7	1	4	rs17013285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:88767008G>A	ENST00000424957.3	+	4	1061	c.988G>A	c.(988-990)Gtt>Att	p.V330I	MEPE_ENST00000560249.1_Missense_Mutation_p.V217I|MEPE_ENST00000361056.3_Missense_Mutation_p.V330I|MEPE_ENST00000395102.4_Missense_Mutation_p.V361I|MEPE_ENST00000497649.2_Missense_Mutation_p.V306I|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.V217I	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	330			V -> I (in dbSNP:rs17013285).		biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GGCAGATGCTGTTGATGTCAG	0.458													G|||	863	0.172324	0.0484	0.1801	5008	,	,		20635	0.2827		0.164	False		,,,				2504	0.229				p.V330I		Atlas-SNP	.											.	MEPE	86	.	0			c.G988A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	286,4120	158.1+/-190.9	8,270,1925	65	64	64		988,649,649,649,988	0.4	0	4	dbSNP_123	64	1468,7132	274.2+/-291.1	134,1200,2966	yes	missense,missense,missense,missense,missense	MEPE	NM_001184694.1,NM_001184695.1,NM_001184696.1,NM_001184697.1,NM_020203.3	29,29,29,29,29	142,1470,4891	AA,AG,GG		17.0698,6.4911,13.4861	benign,benign,benign,benign,benign	330/526,217/413,217/413,217/413,330/526	88767008	1754,11252	2203	4300	6503	SO:0001583	missense	56955	exon4			GATGCTGTTGATG	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.988G>A	4.37:g.88767008G>A	ENSP00000416984:p.Val330Ile	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	43	23	0.534884	NM_020203	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	385	0.1762820512820513	25	0.0508130081300813	54	0.14917127071823205	171	0.29895104895104896	135	0.17810026385224276	G	9.102	1.004490	0.19199	0.064911	0.170698	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.95;0.94	4.68	0.436	0.16549	.	0.506936	0.16629	N	0.206152	T	0.00012	0.0000	L	0.31207	0.915	0.80722	P	0.0	B	0.15719	0.014	B	0.10450	0.005	T	0.34650	-0.9820	9	0.31617	T	0.26	-0.3551	3.377	0.07241	0.3818:0.2037:0.4145:0.0	rs17013285;rs52799941;rs17013285	330	Q9NQ76	MEPE_HUMAN	I	330;361;306;217;330	ENSP00000416984:V330I;ENSP00000378534:V361I;ENSP00000422747:V306I;ENSP00000443491:V217I;ENSP00000354341:V330I	ENSP00000354341:V330I	V	+	1	0	MEPE	88986032	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.389000	0.20751	0.161000	0.19458	0.655000	0.94253	GTT	G|0.854;A|0.146	0.146	strong		0.458	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			A	88767008	G	A	88767008	3	1	23	1	0	0	0	0	1	0	0	0	9478	1377	48	2	998	2	MEPE	4	88767008	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	229533	88767008	102387268	1202	17658										
HERC5	51191	hgsc.bcm.edu	37	chr4	89390360	89390360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactctgaatgaagggactgTaaagagatggattgctgatg	13	4	1	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:89390360T>C	ENST00000264350.3	+	9	1340	c.1187T>C	c.(1186-1188)gTa>gCa	p.V396A	HERC5_ENST00000508159.1_Missense_Mutation_p.V34A	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	396					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGGGACTGTAAAGAGATGG	0.383																																					p.V396A	Esophageal Squamous(39;887 1012 34045 50514)	Atlas-SNP	.											HERC5,NS,carcinoma,+1,1	HERC5	114	1	0			c.T1187C						scavenged	.						141	130	134					4																	89390360		2203	4300	6503	SO:0001583	missense	51191	exon9			GGACTGTAAAGAG	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1187T>C	4.37:g.89390360T>C	ENSP00000264350:p.Val396Ala	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	159	2	0.0125786	NM_016323	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	6.319	0.426866	0.11987	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.40225	1.04;1.06	3.79	2.62	0.31277	.	0.405775	0.20080	N	0.099677	T	0.29458	0.0734	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.14172	-1.0482	10	0.26408	T	0.33	.	5.2059	0.15291	0.0:0.2306:0.0:0.7694	.	396	Q9UII4	HERC5_HUMAN	A	396;34	ENSP00000264350:V396A;ENSP00000424129:V34A	ENSP00000264350:V396A	V	+	2	0	HERC5	89609383	0.651000	0.27340	0.166000	0.22797	0.492000	0.33523	1.920000	0.40025	0.832000	0.34804	0.459000	0.35465	GTA	.	.	none		0.383	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		C	89390360	T	C	89390360	3	2	23	1	0	0	0	0	1	0	0	0	7061	1638	57	2	1221	2	HERC5	4	89390360	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	623352	89390360	101763916	1203	17659										
FAM13A	10144	hgsc.bcm.edu	37	chr4	89772301	89772301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttgcagtactctgtgggCctgaatagatccctcactcc	10	12	2	2	rs7680970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:89772301C>A	ENST00000264344.5	-	7	1084	c.877G>T	c.(877-879)Gcc>Tcc	p.A293S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	293					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACTCTGTGGGCCTGAATAGAT	0.428													C|||	360	0.071885	0.208	0.0202	5008	,	,		15473	0.0		0.0398	False		,,,				2504	0.0317				p.A293S		Atlas-SNP	.											.	FAM13A	181	.	0			c.G877T						PASS	.	C	SER/ALA	877,3529	342.5+/-307.2	84,709,1410	104	110	108		877	-8.6	0	4	dbSNP_116	108	372,8228	122.5+/-181.5	7,358,3935	yes	missense	FAM13A	NM_014883.2	99	91,1067,5345	AA,AC,CC		4.3256,19.9047,9.6033	benign	293/1024	89772301	1249,11757	2203	4300	6503	SO:0001583	missense	10144	exon7			TGTGGGCCTGAAT	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.877G>T	4.37:g.89772301C>A	ENSP00000264344:p.Ala293Ser	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	64	41	0.640625	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	131	0.059981684981684984	92	0.18699186991869918	8	0.022099447513812154	0	0.0	31	0.040897097625329816	C	0.266	-0.996427	0.02145	0.199047	0.043256	ENSG00000138640	ENST00000264344	T	0.17528	2.27	4.33	-8.65	0.00870	.	1.727690	0.03193	N	0.173561	T	0.00012	0.0000	N	0.11427	0.14	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.28681	-1.0036	9	0.09843	T	0.71	.	1.8154	0.03099	0.2605:0.2239:0.0863:0.4293	rs7680970;rs7680970	293	O94988	FA13A_HUMAN	S	293	ENSP00000264344:A293S	ENSP00000264344:A293S	A	-	1	0	FAM13A	89991324	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.226000	0.01211	-2.955000	0.00292	-0.813000	0.03139	GCC	C|0.918;A|0.082	0.082	strong		0.428	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89772301	C	A	89772301	3	1	23	1	0	0	0	0	1	0	0	0	5452	739	26	4	2299	4	FAM13A	4	89772301	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	381941	89772301	101381975	1204	17660										
PDLIM5	10611	hgsc.bcm.edu	37	chr4	95496882	95496882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggccttttggttctgtgtCttcaccaaaagtcacatcca	7	12	4	0	rs2452600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:95496882C>T	ENST00000317968.4	+	5	543	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S14F|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000538141.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	136			S -> F (in dbSNP:rs2452600). {ECO:0000269|PubMed:14702039}.		regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTCTGTGTCTTCACCAAAA	0.527													C|||	1125	0.224641	0.1051	0.2378	5008	,	,		19873	0.378		0.3121	False		,,,				2504	0.1288				p.S136F		Atlas-SNP	.											.	PDLIM5	76	.	0			c.C407T						PASS	.	C	,,,PHE/SER	594,3812	261.9+/-264.6	38,518,1647	296	259	271		,,,407	4.4	1	4	dbSNP_100	271	2668,5932	429.7+/-356.3	434,1800,2066	yes	intron,intron,intron,missense	PDLIM5	NM_001011513.2,NM_001011515.1,NM_001011516.1,NM_006457.3	,,,155	472,2318,3713	TT,TC,CC		31.0233,13.4816,25.0807	,,,possibly-damaging	,,,136/597	95496882	3262,9744	2203	4300	6503	SO:0001583	missense	10611	exon5			CTGTGTCTTCACC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.407C>T	4.37:g.95496882C>T	ENSP00000321746:p.Ser136Phe	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	230	107	0.465217	NM_006457	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	601	0.2751831501831502	43	0.08739837398373984	84	0.23204419889502761	242	0.4230769230769231	232	0.30606860158311344	C	20.8	4.042342	0.75732	0.134816	0.310233	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.61627	0.58;0.09	5.25	4.39	0.52855	.	0.343767	0.28865	N	0.013899	T	0.00012	0.0000	L	0.44542	1.39	0.28580	P	0.9101637	P	0.49961	0.93	B	0.42214	0.38	T	0.45086	-0.9285	9	0.56958	D	0.05	.	13.5979	0.62002	0.0:0.9248:0.0:0.0752	rs2452600;rs3792659;rs52807888;rs56704997;rs2452600	136	Q96HC4	PDLI5_HUMAN	F	136;14	ENSP00000321746:S136F;ENSP00000442187:S14F	ENSP00000321746:S136F	S	+	2	0	PDLIM5	95715905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.262000	0.43285	2.590000	0.87494	0.655000	0.94253	TCT	C|0.737;T|0.263	0.263	strong		0.527	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			T	95496882	C	T	95496882	3	4	23	1	0	0	0	0	1	0	0	0	11683	913	32	2	421	2	PDLIM5	4	95496882	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5724581	95496882	95657394	1205	17661										
UNC5C	8633	hgsc.bcm.edu	37	chr4	96091414	96091414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggagagggatgctgaaagCactgggccccgtgaccgtgg	18	9	0	3	rs34585936	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:96091414C>T	ENST00000453304.1	-	15	2869	c.2521G>A	c.(2521-2523)Gct>Act	p.A841T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	841			A -> T (in dbSNP:rs34585936).		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCTGAAAGCACTGGGCCCC	0.582													C|||	92	0.0183706	0.0023	0.0231	5008	,	,		18103	0.0347		0.0209	False		,,,				2504	0.0174				p.A841T		Atlas-SNP	.											.	UNC5C	141	.	0			c.G2521A						PASS	.	C	THR/ALA	32,4374	37.6+/-69.7	0,32,2171	178	169	172		2521	5.5	0.7	4	dbSNP_126	172	173,8427	80.6+/-143.3	1,171,4128	yes	missense	UNC5C	NM_003728.3	58	1,203,6299	TT,TC,CC		2.0116,0.7263,1.5762	probably-damaging	841/932	96091414	205,12801	2203	4300	6503	SO:0001583	missense	8633	exon15			TGAAAGCACTGGG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2521G>A	4.37:g.96091414C>T	ENSP00000406022:p.Ala841Thr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	90	35	0.388889	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	38	0.0173992673992674	2	0.0040650406504065045	4	0.011049723756906077	18	0.03146853146853147	14	0.018469656992084433	C	33	5.275814	0.95459	0.007263	0.020116	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.23348	1.91	5.51	5.51	0.81932	Death (1);DEATH-like (2);	0.052554	0.85682	D	0.000000	T	0.32133	0.0819	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.50816	-0.8783	10	0.72032	D	0.01	.	19.6101	0.95602	0.0:1.0:0.0:0.0	rs34585936	841	O95185	UNC5C_HUMAN	T	841;800	ENSP00000406022:A841T	ENSP00000328673:A800T	A	-	1	0	UNC5C	96310437	1.000000	0.71417	0.712000	0.30502	0.752000	0.42762	7.651000	0.83577	2.868000	0.98415	0.557000	0.71058	GCT	C|0.983;T|0.017	0.017	strong		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96091414	C	T	96091414	3	4	23	1	0	0	0	0	1	0	0	0	16990	710	25	2	282	2	UNC5C	4	96091414	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	594532	96091414	95062862	1206	17662										
EIF4E	1977	hgsc.bcm.edu	37	chr4	99808254	99808254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctagccaaaagcgatcgagGtcacttcgtctctgctgttt	9	11	3	0	rs62323192	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:99808254G>A	ENST00000450253.2	-	5	1899	c.375C>T	c.(373-375)gaC>gaT	p.D125D	EIF4E_ENST00000280892.6_Silent_p.D145D|EIF4E_ENST00000505992.1_Silent_p.D125D|EIF4E_ENST00000504432.1_Silent_p.D153D	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	125					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.D125D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AGCGATCGAGGTCACTTCGTC	0.383													G|||	548	0.109425	0.0144	0.1455	5008	,	,		21025	0.001		0.2734	False		,,,				2504	0.1554				p.D145D		Atlas-SNP	.											EIF4E,NS,carcinoma,0,1	EIF4E	18	1	1	Substitution - coding silent(1)	prostate(1)	c.C435T						PASS	.	G	,,	230,4176	136.1+/-172.1	7,216,1980	239	207	218		435,375,375	4.1	1	4	dbSNP_129	218	2472,6128	406.4+/-348.8	344,1784,2172	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4E	NM_001130678.1,NM_001130679.1,NM_001968.3	,,	351,2000,4152	AA,AG,GG		28.7442,5.2202,20.775	,,	145/238,125/249,125/218	99808254	2702,10304	2203	4300	6503	SO:0001819	synonymous_variant	1977	exon5			ATCGAGGTCACTT	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.375C>T	4.37:g.99808254G>A		Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	196	99	0.505102	NM_001130678	B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	CCDS34031.1	271	0.12408424908424909	9	0.018292682926829267	54	0.14917127071823205	1	0.0017482517482517483	207	0.27308707124010556	G	10.27	1.303728	0.23736	0.052202	0.287442	ENSG00000151247	ENST00000511644	.	.	.	5.85	4.14	0.48551	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.16129	-1.0413	3	.	.	.	-16.6535	9.8967	0.41322	0.2072:0.0:0.7928:0.0	rs62323192	.	.	.	S	122	.	.	P	-	1	0	EIF4E	100027277	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.700000	0.61803	0.823000	0.34589	0.557000	0.71058	CCT	G|0.819;A|0.181	0.181	strong		0.383	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		A	99808254	G	A	99808254	2	1	23	1	0	0	0	0	0	0	0	1	5028	1252	44	2		2	EIF4E	4	99808254	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3716840	99808254	91346022	1207	17663										
ADH4	127	hgsc.bcm.edu	37	chr4	100047812	100047812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcagggtatgggtcaccaGtgcatccagattgaatttct	12	8	2	2	rs1126672	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:100047812G>A	ENST00000265512.7	-	8	1125	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	ADH4_ENST00000508393.1_Silent_p.L370L|ADH4_ENST00000505590.1_Silent_p.L370L|ADH4_ENST00000423445.1_Silent_p.L370L|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	351					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.L351L(2)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TGGGTCACCAGTGCATCCAGA	0.363													A|||	587	0.117212	0.0696	0.1729	5008	,	,		15373	0.0		0.2773	False		,,,				2504	0.0982				p.L351L		Atlas-SNP	.											ADH4,NS,carcinoma,0,1	ADH4	35	1	2	Substitution - coding silent(2)	prostate(2)	c.C1051T						PASS	.	A		484,3922	781.9+/-414.5	21,442,1740	142	138	139		1051	-3.5	0	4	dbSNP_86	139	2481,6119	696.0+/-404.8	343,1795,2162	no	coding-synonymous	ADH4	NM_000670.3		364,2237,3902	AA,AG,GG		28.8488,10.985,22.7972		351/381	100047812	2965,10041	2203	4300	6503	SO:0001819	synonymous_variant	127	exon8			TCACCAGTGCATC	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1051C>T	4.37:g.100047812G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	139	59	0.42446	NM_000670	A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	CCDS34032.1																																																																																			G|0.824;A|0.176	0.176	strong		0.363	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		A	100047812	G	A	100047812	2	1	23	1	0	0	0	0	0	0	0	1	310	1020	36	2		2	ADH4	4	100047812	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	239558	100047812	91106464	1208	17664										
MTTP	4547	hgsc.bcm.edu	37	chr4	100504575	100504575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaatcagcagagaggagaGaagagcatcttcaaaggaaa	13	5	3	4	rs2306986	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:100504575G>C	ENST00000265517.5	+	3	497	c.294G>C	c.(292-294)gaG>gaC	p.E98D	MTTP_ENST00000422897.2_Missense_Mutation_p.E98D|MTTP_ENST00000457717.1_Missense_Mutation_p.E98D|MTTP_ENST00000511045.1_Missense_Mutation_p.E125D			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	98	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		E -> D (in dbSNP:rs2306986).		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGAGAGGAGAGAAGAGCATCT	0.383													G|||	592	0.118211	0.205	0.072	5008	,	,		16968	0.2143		0.0159	False		,,,				2504	0.0399				p.E98D		Atlas-SNP	.											.	MTTP	127	.	0			c.G294C						PASS	.	G	ASP/GLU	818,3586	319.3+/-296.1	78,662,1462	112	121	118		294	2.7	1	4	dbSNP_100	118	351,8249	117.6+/-177.1	5,341,3954	yes	missense	MTTP	NM_000253.2	45	83,1003,5416	CC,CG,GG		4.0814,18.574,8.9895	benign	98/895	100504575	1169,11835	2202	4300	6502	SO:0001583	missense	4547	exon4			AGGAGAGAAGAGC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.294G>C	4.37:g.100504575G>C	ENSP00000265517:p.Glu98Asp	Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	283	136	0.480565	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	276	0.12637362637362637	98	0.1991869918699187	21	0.058011049723756904	142	0.24825174825174826	15	0.01978891820580475	G	11.36	1.614497	0.28712	0.18574	0.040814	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.71	2.66	0.31614	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.311546	0.39687	N	0.001285	T	0.00012	0.0000	N	0.08118	0	0.46167	P	0.0010970000000000146	B;P;P	0.40302	0.202;0.712;0.712	B;B;B	0.39617	0.183;0.159;0.305	T	0.24764	-1.0151	8	.	.	.	-2.4524	4.55	0.12107	0.303:0.0:0.5391:0.1579	rs2306986;rs52838208;rs2306986	125;98;98	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	D	108;125;98;98;98;98	ENSP00000426755:E108D;ENSP00000427679:E125D;ENSP00000400821:E98D;ENSP00000265517:E98D;ENSP00000407350:E98D	.	E	+	3	2	MTTP	100723598	0.683000	0.27633	1.000000	0.80357	0.921000	0.55340	0.170000	0.16663	0.771000	0.33359	-0.140000	0.14226	GAG	G|0.897;C|0.103	0.103	strong		0.383	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			C	100504575	G	C	100504575	3	2	23	1	0	0	0	0	1	0	0	0	9964	933	33	4	304	4	MTTP	4	100504575	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	456763	100504575	90649701	1209	17665										
MTTP	4547	hgsc.bcm.edu	37	chr4	100510903	100510903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttaagctctggaaccaccaAtgaggtacttaccaatatta	7	9	1	1	rs3792683	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:100510903A>G	ENST00000265517.5	+	4	700	c.497A>G	c.(496-498)aAt>aGt	p.N166S	MTTP_ENST00000457717.1_Missense_Mutation_p.N166S|MTTP_ENST00000511045.1_Missense_Mutation_p.N193S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	166	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		N -> S (in dbSNP:rs3792683).		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGAACCACCAATGAGGTACTT	0.348													A|||	573	0.114417	0.1929	0.0692	5008	,	,		17528	0.2143		0.0159	False		,,,				2504	0.0389				p.N166S		Atlas-SNP	.											MTTP,NS,carcinoma,-1,1	MTTP	127	1	0			c.A497G						PASS	.	A	SER/ASN	763,3643	309.1+/-290.9	69,625,1509	76	78	77		497	4.1	0.9	4	dbSNP_107	77	351,8249	118.1+/-177.6	5,341,3954	yes	missense	MTTP	NM_000253.2	46	74,966,5463	GG,GA,AA		4.0814,17.3173,8.5653	benign	166/895	100510903	1114,11892	2203	4300	6503	SO:0001583	missense	4547	exon5			CCACCAATGAGGT		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.497A>G	4.37:g.100510903A>G	ENSP00000265517:p.Asn166Ser	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	36	21	0.583333	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	268	0.1227106227106227	91	0.18495934959349594	20	0.055248618784530384	142	0.24825174825174826	15	0.01978891820580475	A	2.852	-0.238086	0.05944	0.173173	0.040814	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T;T	0.14022	2.54;3.56;3.56;3.56	5.35	4.13	0.48395	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.639345	0.17178	N	0.183997	T	0.00012	0.0000	L	0.29908	0.895	0.45194	P	0.0017930000000000446	B;B	0.33777	0.013;0.425	B;B	0.31946	0.03;0.138	T	0.37820	-0.9689	9	0.09338	T	0.73	-25.0927	3.6587	0.08230	0.607:0.2013:0.1916:0.0	rs3792683;rs52834225;rs3792683	193;166	E9PBP6;P55157	.;MTP_HUMAN	S	176;193;166;166;166	ENSP00000426755:N176S;ENSP00000427679:N193S;ENSP00000400821:N166S;ENSP00000265517:N166S	ENSP00000265517:N166S	N	+	2	0	MTTP	100729926	0.014000	0.17966	0.944000	0.38274	0.988000	0.76386	0.371000	0.20450	0.833000	0.34828	0.533000	0.62120	AAT	A|0.901;G|0.099	0.099	strong		0.348	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			G	100510903	A	G	100510903	3	3	23	1	0	0	0	0	1	0	0	0	9964	101	4	2	511	2	MTTP	4	100510903	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6328	100510903	90643373	1210	17666										
MTTP	4547	hgsc.bcm.edu	37	chr4	100512412	100512412	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagatatctctggaaattgTaaagtgacctaccaggctca	9	8	2	2	rs982424	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:100512412T>C	ENST00000265517.5	+	5	725	c.522T>C	c.(520-522)tgT>tgC	p.C174C	MTTP_ENST00000457717.1_Silent_p.C174C|MTTP_ENST00000511045.1_Silent_p.C201C			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	174	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CTGGAAATTGTAAAGTGACCT	0.408													T|||	824	0.164537	0.2534	0.0951	5008	,	,		15709	0.2232		0.0497	False		,,,				2504	0.1513				p.C174C		Atlas-SNP	.											.	MTTP	127	.	0			c.T522C						PASS	.	T		1064,3342	389.1+/-327.2	135,794,1274	103	100	101		522	-0.6	1	4	dbSNP_86	101	598,8002	158.2+/-211.7	21,556,3723	no	coding-synonymous	MTTP	NM_000253.2		156,1350,4997	CC,CT,TT		6.9535,24.1489,12.7787		174/895	100512412	1662,11344	2203	4300	6503	SO:0001819	synonymous_variant	4547	exon6			AAATTGTAAAGTG		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.522T>C	4.37:g.100512412T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	128	60	0.46875	NM_000253	A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	CCDS3651.1																																																																																			T|0.855;C|0.145	0.145	strong		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			C	100512412	T	C	100512412	2	2	23	1	0	0	0	0	0	0	0	1	9964	1644	57	2		2	MTTP	4	100512412	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1509	100512412	90641864	1211	17667										
SLC39A8	64116	hgsc.bcm.edu	37	chr4	103225513	103225513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acattatcaaaatggatatgTccattagcttctgtgacagc	7	8	2	1	rs11097773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:103225513T>C	ENST00000394833.2	-	5	1277	c.801A>G	c.(799-801)ggA>ggG	p.G267G	SLC39A8_ENST00000424970.2_Silent_p.G267G|SLC39A8_ENST00000356736.4_Silent_p.G267G|SLC39A8_ENST00000510255.1_5'Flank	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	267					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATGGATATGTCCATTAGCTT	0.358													T|||	726	0.144968	0.0915	0.1772	5008	,	,		18835	0.1181		0.1541	False		,,,				2504	0.2127				p.G267G		Atlas-SNP	.											.	SLC39A8	24	.	0			c.A801G						PASS	.	T	,,,	416,3990	204.5+/-226.7	12,392,1799	160	139	146		801,801,600,801	4.8	1	4	dbSNP_120	146	1513,7087	285.1+/-297.0	122,1269,2909	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A8	NM_001135146.1,NM_001135147.1,NM_001135148.1,NM_022154.5	,,,	134,1661,4708	CC,CT,TT		17.593,9.4417,14.8316	,,,	267/461,267/445,200/394,267/461	103225513	1929,11077	2203	4300	6503	SO:0001819	synonymous_variant	64116	exon5			GATATGTCCATTA		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.801A>G	4.37:g.103225513T>C		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	182	103	0.565934	NM_022154	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	CCDS3656.1																																																																																			T|0.860;C|0.140	0.140	strong		0.358	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		C	103225513	T	C	103225513	2	2	23	1	0	0	0	0	0	0	0	1	14624	1654	58	2		2	SLC39A8	4	103225513	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2713101	103225513	87928763	1212	17668										
SLC39A8	64116	hgsc.bcm.edu	37	chr4	103228734	103228734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagatgccagattaataatCgtcactgacaggaatccata	8	8	1	3	rs35411892	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:103228734C>T	ENST00000394833.2	-	3	887	c.411G>A	c.(409-411)acG>acA	p.T137T	SLC39A8_ENST00000424970.2_Silent_p.T137T|SLC39A8_ENST00000356736.4_Silent_p.T137T|SLC39A8_ENST00000510255.1_5'UTR	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	137					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GATTAATAATCGTCACTGACA	0.393													C|||	821	0.163938	0.1604	0.1844	5008	,	,		18210	0.1171		0.1551	False		,,,				2504	0.2117				p.T137T		Atlas-SNP	.											.	SLC39A8	24	.	0			c.G411A						PASS	.	C	,,,	688,3718	280.8+/-275.6	49,590,1564	97	106	103		411,411,210,411	-11.1	0	4	dbSNP_126	103	1514,7086	284.2+/-296.5	122,1270,2908	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A8	NM_001135146.1,NM_001135147.1,NM_001135148.1,NM_022154.5	,,,	171,1860,4472	TT,TC,CC		17.6047,15.6151,16.9306	,,,	137/461,137/445,70/394,137/461	103228734	2202,10804	2203	4300	6503	SO:0001819	synonymous_variant	64116	exon3			AATAATCGTCACT		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.411G>A	4.37:g.103228734C>T		Somatic	344	1	0.00290698		WXS	Illumina HiSeq	Phase_I	351	169	0.481481	NM_022154	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	CCDS3656.1																																																																																			C|0.841;T|0.159	0.159	strong		0.393	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		T	103228734	C	T	103228734	2	4	23	1	0	0	0	0	0	0	0	1	14624	871	31	1		1	SLC39A8	4	103228734	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3221	103228734	87925542	1213	17669										
MANBA	4126	hgsc.bcm.edu	37	chr4	103555992	103555992	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctccttcggtgaggacaAgaagtggtagttggtcgggc	17	8	0	2	rs2272697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:103555992A>G	ENST00000226578.4	-	16	2467	c.2368T>C	c.(2368-2370)Ttg>Ctg	p.L790L	MANBA_ENST00000505239.1_Silent_p.L733L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	790					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.L790L(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGTGAGGACAAGAAGTGGTAG	0.567													G|||	2753	0.54972	0.6619	0.6542	5008	,	,		19905	0.5198		0.493	False		,,,				2504	0.4131				p.L790L		Atlas-SNP	.											MANBA,NS,carcinoma,0,2	MANBA	78	2	1	Substitution - coding silent(1)	prostate(1)	c.T2368C						PASS	.	G		2720,1686	511.1+/-367.7	851,1018,334	87	79	82		2368	3.7	1	4	dbSNP_100	82	4413,4187	568.4+/-389.0	1120,2173,1007	no	coding-synonymous	MANBA	NM_005908.3		1971,3191,1341	GG,GA,AA		48.686,38.266,45.1561		790/880	103555992	7133,5873	2203	4300	6503	SO:0001819	synonymous_variant	4126	exon16			AGGACAAGAAGTG		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2368T>C	4.37:g.103555992A>G		Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	182	179	0.983516	NM_005908	Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	CCDS3658.1																																																																																			A|0.447;G|0.553	0.553	strong		0.567	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			G	103555992	A	G	103555992	2	3	23	1	0	0	0	0	0	0	0	1	9219	69	3	3		3	MANBA	4	103555992	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	327258	103555992	87598284	1214	17670										
MANBA	4126	hgsc.bcm.edu	37	chr4	103557077	103557077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacaccatagatatagaacGtgttttcattctcaaagcct	5	10	2	2	rs2866413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:103557077G>A	ENST00000226578.4	-	15	2201	c.2102C>T	c.(2101-2103)aCg>aTg	p.T701M	MANBA_ENST00000505239.1_Missense_Mutation_p.T644M	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	701			T -> M (in dbSNP:rs2866413). {ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GATATAGAACGTGTTTTCATT	0.378													G|||	2750	0.549121	0.6626	0.6542	5008	,	,		21434	0.5159		0.493	False		,,,				2504	0.4131				p.T701M		Atlas-SNP	.											MANBA,NS,adenoma,0,1	MANBA	78	1	0			c.C2102T						PASS	.	G	MET/THR	2720,1686	654.3+/-399.7	850,1020,333	100	96	97		2102	2.8	0	4	dbSNP_101	97	4413,4187	585.7+/-391.9	1120,2173,1007	yes	missense	MANBA	NM_005908.3	81	1970,3193,1340	AA,AG,GG		48.686,38.266,45.1561	benign	701/880	103557077	7133,5873	2203	4300	6503	SO:0001583	missense	4126	exon15			TAGAACGTGTTTT		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2102C>T	4.37:g.103557077G>A	ENSP00000226578:p.Thr701Met	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	128	126	0.984375	NM_005908	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	1205	0.5517399267399268	311	0.6321138211382114	225	0.6215469613259669	295	0.5157342657342657	374	0.49340369393139843	G	9.422	1.083279	0.20309	0.61734	0.51314	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.58060	0.36;0.36	5.42	2.83	0.33086	.	0.610170	0.17652	N	0.166653	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B	0.21753	0.054;0.06	B;B	0.14578	0.004;0.011	T	0.42155	-0.9468	9	0.46703	T	0.11	-0.6633	8.7571	0.34652	0.8361:0.0:0.1639:0.0	rs2866413;rs3733203;rs17851324;rs52825236;rs57086295;rs2866413	644;701	E9PFW2;O00462	.;MANBA_HUMAN	M	701;644	ENSP00000226578:T701M;ENSP00000427322:T644M	ENSP00000226578:T701M	T	-	2	0	MANBA	103776125	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	1.802000	0.38853	0.344000	0.23847	-0.290000	0.09829	ACG	G|0.448;A|0.552	0.552	strong		0.378	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			A	103557077	G	A	103557077	3	1	23	1	0	0	0	0	1	0	0	0	9219	1145	40	1	549	1	MANBA	4	103557077	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1085	103557077	87597199	1215	17671										
NHEDC2	133308	hgsc.bcm.edu	37	chr4	103964529	103964529	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctgatccagggaaaccaAaatgcacactgctgaacaca	7	13	0	2	rs2276976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:103964529A>C	ENST00000394785.3	-	9	1701	c.1070T>G	c.(1069-1071)tTt>tGt	p.F357C	SLC9B2_ENST00000503230.1_Missense_Mutation_p.F300C|SLC9B2_ENST00000339611.4_Missense_Mutation_p.F357C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.F300C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.F357C	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	357			F -> C (in dbSNP:rs2276976).		ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AGGGAAACCAAAATGCACACT	0.438													A|||	719	0.14357	0.062	0.1628	5008	,	,		17381	0.1806		0.1064	False		,,,				2504	0.2403				p.F357C		Atlas-SNP	.											.	.	.	.	0			c.T1070G						PASS	.	A	CYS/PHE	264,4142	148.0+/-182.4	6,252,1945	154	120	131		1070	5.9	0.1	4	dbSNP_100	131	996,7604	215.2+/-254.6	62,872,3366	yes	missense	SLC9B2	NM_178833.4	205	68,1124,5311	CC,CA,AA		11.5814,5.9918,9.6878	benign	357/538	103964529	1260,11746	2203	4300	6503	SO:0001583	missense	133308	exon9			AAACCAAAATGCA	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1070T>G	4.37:g.103964529A>C	ENSP00000378265:p.Phe357Cys	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	36	0.5	NM_178833	B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	265	0.12133699633699634	40	0.08130081300813008	59	0.16298342541436464	92	0.16083916083916083	74	0.09762532981530343	A	15.72	2.917232	0.52546	0.059918	0.115814	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.93	5.93	0.95920	.	0.534116	0.21999	N	0.066029	T	0.00178	0.0005	M	0.70275	2.135	0.24182	P	0.9955815	D;P;D;D	0.65815	0.995;0.909;0.967;0.992	D;P;P;P	0.63113	0.911;0.895;0.818;0.863	T	0.00259	-1.1870	9	0.38643	T	0.18	-14.1416	16.3871	0.83514	1.0:0.0:0.0:0.0	rs2276976;rs52829275;rs57944708;rs2276976	300;300;357;357	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	C	357;257;357;357;300;300	ENSP00000354574:F357C;ENSP00000421943:F257C;ENSP00000345241:F357C;ENSP00000378265:F357C;ENSP00000425385:F300C;ENSP00000422477:F300C	ENSP00000345241:F357C	F	-	2	0	SLC9B2	104183978	1.000000	0.71417	0.061000	0.19648	0.991000	0.79684	6.434000	0.73408	2.270000	0.75569	0.482000	0.46254	TTT	A|0.893;C|0.107	0.107	strong		0.438	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		C	103964529	A	C	103964529	3	2	23	1	0	0	0	0	1	0	0	0	10401	14	1	5	559	5	NHEDC2	4	103964529	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	407452	103964529	87189747	1216	17672										
CENPE	1062	hgsc.bcm.edu	37	chr4	104059542	104059542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttttctctcaggctttccGtaaggtgctgttgtccatca	8	11	3	0	rs2243682	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:104059542G>A	ENST00000265148.3	-	39	6358	c.6269C>T	c.(6268-6270)aCg>aTg	p.T2090M	CENPE_ENST00000380026.3_Missense_Mutation_p.T1969M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2090			T -> M (in dbSNP:rs2243682). {ECO:0000269|PubMed:1406971}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T2090M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAGGCTTTCCGTAAGGTGCTG	0.393													G|||	550	0.109824	0.0197	0.1153	5008	,	,		18082	0.1409		0.2207	False		,,,				2504	0.0818				p.T2090M		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - Missense(1)	stomach(1)	c.C6269T						PASS	.	G	MET/THR	182,4224	118.0+/-155.7	6,170,2027	241	231	234		6269	0.4	0	4	dbSNP_100	234	1772,6828	320.0+/-314.4	196,1380,2724	yes	missense	CENPE	NM_001813.2	81	202,1550,4751	AA,AG,GG		20.6047,4.1307,15.0238	probably-damaging	2090/2702	104059542	1954,11052	2203	4300	6503	SO:0001583	missense	1062	exon39			CTTTCCGTAAGGT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6269C>T	4.37:g.104059542G>A	ENSP00000265148:p.Thr2090Met	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	67	40	0.597015	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	324	0.14835164835164835	16	0.032520325203252036	51	0.1408839779005525	74	0.12937062937062938	183	0.24142480211081793	G	10.54	1.379672	0.24944	0.041307	0.206047	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72394	-0.65;-0.61	4.34	0.381	0.16228	.	.	.	.	.	T	0.00039	0.0001	L	0.44542	1.39	0.80722	P	0.0	P;B	0.37398	0.593;0.297	B;B	0.22386	0.039;0.015	T	0.01401	-1.1364	8	0.45353	T	0.12	.	6.5724	0.22545	0.4583:0.0:0.5417:0.0	rs2243682;rs52801440;rs58953735;rs2243682	1969;2090	Q02224-3;Q02224	.;CENPE_HUMAN	M	2090;2090;1969	ENSP00000265148:T2090M;ENSP00000369365:T1969M	ENSP00000265148:T2090M	T	-	2	0	CENPE	104278991	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	-0.164000	0.09983	0.137000	0.18759	0.544000	0.68410	ACG	G|0.855;A|0.145	0.145	strong		0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104059542	G	A	104059542	3	1	23	1	0	0	0	0	1	0	0	0	3230	1145	40	1	1880	1	CENPE	4	104059542	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	95013	104059542	87094734	1217	17673										
CENPE	1062	hgsc.bcm.edu	37	chr4	104066461	104066461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actaatttgttttatattaaAttgttcctctttctcataaa	2	6	2	0	rs2615542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:104066461A>G	ENST00000265148.3	-	32	4692	c.4603T>C	c.(4603-4605)Ttt>Ctt	p.F1535L	CENPE_ENST00000380026.3_Missense_Mutation_p.F1510L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1535			F -> L (in dbSNP:rs2615542). {ECO:0000269|PubMed:1406971}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.F1535L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATATTAAATTGTTCCTCT	0.299													G|||	607	0.121206	0.062	0.1153	5008	,	,		16276	0.1409		0.2207	False		,,,				2504	0.0828				p.F1535L		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - Missense(1)	stomach(1)	c.T4603C						PASS	.	G	LEU/PHE	281,4121	778.4+/-414.3	8,265,1928	47	46	46		4603	-2.4	0	4	dbSNP_100	46	1768,6828	720.6+/-406.3	195,1378,2725	yes	missense	CENPE	NM_001813.2	22	203,1643,4653	GG,GA,AA		20.5677,6.3835,15.764	benign	1535/2702	104066461	2049,10949	2201	4298	6499	SO:0001583	missense	1062	exon32			TATTAAATTGTTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4603T>C	4.37:g.104066461A>G	ENSP00000265148:p.Phe1535Leu	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	347	0.15888278388278387	39	0.07926829268292683	51	0.1408839779005525	74	0.12937062937062938	183	0.24142480211081793	G	0.006	-2.062430	0.00386	0.063835	0.205677	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.62639	0.01;0.15	4.44	-2.42	0.06542	.	.	.	.	.	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07654	-1.0761	8	0.02654	T	1	.	0.4903	0.00563	0.3766:0.2373:0.1466:0.2394	rs2615542;rs17282727;rs52815493;rs60897952;rs2615542	1510;1535	Q02224-3;Q02224	.;CENPE_HUMAN	L	1535;1535;1510	ENSP00000265148:F1535L;ENSP00000369365:F1510L	ENSP00000265148:F1535L	F	-	1	0	CENPE	104285910	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.886000	0.04157	-0.433000	0.07286	-0.231000	0.12243	TTT	A|0.848;G|0.152	0.152	strong		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104066461	A	G	104066461	3	3	23	1	0	0	0	0	1	0	0	0	3230	101	4	2	3574	2	CENPE	4	104066461	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6919	104066461	87087815	1218	17674										
CENPE	1062	hgsc.bcm.edu	37	chr4	104102563	104102563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagagcttcatcagttgaTacctcattaacataaggagt	9	7	3	2	rs17217250	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:104102563T>C	ENST00000265148.3	-	12	1103	c.1014A>G	c.(1012-1014)gtA>gtG	p.V338V	CENPE_ENST00000380026.3_Silent_p.V338V|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	338					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.V338V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATCAGTTGATACCTCATTAA	0.294													T|||	599	0.119609	0.0552	0.1153	5008	,	,		14600	0.1419		0.2207	False		,,,				2504	0.0828				p.V338V		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - coding silent(1)	stomach(1)	c.A1014G						scavenged	.	T		250,4146	142.3+/-177.5	8,234,1956	62	62	62		1014	-3.2	1	4	dbSNP_123	62	1770,6810	313.0+/-311.1	193,1384,2713	no	coding-synonymous	CENPE	NM_001813.2		201,1618,4669	CC,CT,TT		20.6294,5.687,15.5672		338/2702	104102563	2020,10956	2198	4290	6488	SO:0001819	synonymous_variant	1062	exon12			AGTTGATACCTCA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1014A>G	4.37:g.104102563T>C		Somatic	443	3	0.00677201		WXS	Illumina HiSeq	Phase_I	423	178	0.420804	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			T|0.840;C|0.160	0.160	strong		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104102563	T	C	104102563	2	2	23	1	0	0	0	0	0	0	0	1	3230	1393	49	2		2	CENPE	4	104102563	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	36102	104102563	87051713	1219	17675										
CENPE	1062	hgsc.bcm.edu	37	chr4	104117191	104117191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgtccataggcaaatatAgtacctgcaaaaaacaaaac	6	9	1	0	rs2290943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:104117191A>G	ENST00000265148.3	-	4	332	c.243T>C	c.(241-243)acT>acC	p.T81T	CENPE_ENST00000380026.3_Silent_p.T81T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	81	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T81T(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGCAAATATAGTACCTGCAA	0.378													A|||	600	0.119808	0.0552	0.1153	5008	,	,		19569	0.1429		0.2207	False		,,,				2504	0.0828				p.T81T		Atlas-SNP	.											CENPE,NS,carcinoma,0,1	CENPE	253	1	1	Substitution - coding silent(1)	stomach(1)	c.T243C						PASS	.	A		252,4154	146.5+/-181.1	8,236,1959	95	88	91		243	-8.4	0.9	4	dbSNP_100	91	1775,6825	319.7+/-314.3	196,1383,2721	no	coding-synonymous	CENPE	NM_001813.2		204,1619,4680	GG,GA,AA		20.6395,5.7195,15.5851		81/2702	104117191	2027,10979	2203	4300	6503	SO:0001819	synonymous_variant	1062	exon4			AAATATAGTACCT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.243T>C	4.37:g.104117191A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	94	41	0.43617	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			A|0.848;G|0.152	0.152	strong		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104117191	A	G	104117191	2	3	23	1	0	0	0	0	0	0	0	1	3230	407	15	3		3	CENPE	4	104117191	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14628	104117191	87037085	1220	17676										
TET2	54790	hgsc.bcm.edu	37	chr4	106196819	106196819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagaccaaatgtacatcatGtagggaaattgcctccttat	7	8	1	1	rs142312318	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:106196819G>T	ENST00000540549.1	+	11	6012	c.5152G>T	c.(5152-5154)Gta>Tta	p.V1718L	TET2_ENST00000513237.1_Missense_Mutation_p.V1739L|TET2_ENST00000380013.4_Missense_Mutation_p.V1718L|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1718			V -> L (in refractory anemia with ringed sideroblasts; somatic mutation in an acute myeloid leukemia sample; dbSNP:rs142312318). {ECO:0000269|PubMed:19372255, ECO:0000269|PubMed:19420352}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.V1718L(6)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTACATCATGTAGGGAAATT	0.418			"Mis N, F"		MDS								G|||	3	0.000599042	0.0	0.0014	5008	,	,		23074	0.0		0.001	False		,,,				2504	0.001				p.V1718L		Atlas-SNP	.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	TET2,NS,lymphoid_neoplasm,0,8	TET2	1762	8	6	Substitution - Missense(6)	haematopoietic_and_lymphoid_tissue(6)	c.G5152T						PASS	.	G	LEU/VAL	1,1383		0,1,691	114	95	101		5152	-2.3	0	4	dbSNP_134	101	21,3161		0,21,1570	yes	missense	TET2	NM_001127208.2	32	0,22,2261	TT,TG,GG		0.66,0.0723,0.4818	possibly-damaging	1718/2003	106196819	22,4544	692	1591	2283	SO:0001583	missense	54790	exon11			CATCATGTAGGGA	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5152G>T	4.37:g.106196819G>T	ENSP00000442788:p.Val1718Leu	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	200	95	0.475	NM_001127208	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	0.311	-0.968065	0.02232	7.23E-4	0.0066	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02158	4.42;4.42;4.42	5.16	-2.29	0.06805	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.00998	0.0033	N	0.21583	0.68	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.17433	0.018;0.012	T	0.49011	-0.8983	9	0.08837	T	0.75	-0.48	5.6612	0.17670	0.3513:0.2405:0.4082:0.0	.	1739;1718	E7EQS8;Q6N021	.;TET2_HUMAN	L	1718;1739;1718	ENSP00000442788:V1718L;ENSP00000425443:V1739L;ENSP00000369351:V1718L	ENSP00000369351:V1718L	V	+	1	0	TET2	106416268	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.054000	0.11826	-0.328000	0.08539	-0.373000	0.07131	GTA	G|0.999;T|0.001	0.001	strong		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		T	106196819	G	T	106196819	3	4	23	1	0	0	0	0	1	0	0	0	15767	1377	48	4	5275	4	TET2	4	106196819	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2079628	106196819	84957457	1221	17677										
PAPSS1	9061	hgsc.bcm.edu	37	chr4	108575989	108575989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcaaatgctgtacagccGtccagcctctctttatcttc	7	13	2	1	rs3733633	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:108575989G>A	ENST00000265174.4	-	8	1235	c.963C>T	c.(961-963)gaC>gaT	p.D321D	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	321					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTGTACAGCCGTCCAGCCTCT	0.498													A|||	1240	0.247604	0.2466	0.2608	5008	,	,		16353	0.3512		0.2256	False		,,,				2504	0.1554				p.D321D		Atlas-SNP	.											.	PAPSS1	57	.	0			c.C963T						PASS	.	A		1057,3349	724.6+/-409.5	116,825,1262	109	112	111		963	-7.9	0.6	4	dbSNP_107	111	1822,6778	731.7+/-406.8	186,1450,2664	no	coding-synonymous	PAPSS1	NM_005443.4		302,2275,3926	AA,AG,GG		21.186,23.99,22.1359		321/625	108575989	2879,10127	2203	4300	6503	SO:0001819	synonymous_variant	9061	exon8			ACAGCCGTCCAGC	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.963C>T	4.37:g.108575989G>A		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	233	125	0.536481	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Silent	SNP	ENST00000265174.4	37	CCDS3676.1																																																																																			G|0.759;A|0.241	0.241	strong		0.498	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			A	108575989	G	A	108575989	2	1	23	1	0	0	0	0	0	0	0	1	11434	1136	40	1		1	PAPSS1	4	108575989	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2379170	108575989	82578287	1222	17678										
EGF	1950	hgsc.bcm.edu	37	chr4	110883121	110883121	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaggctcagtgcttgagaGagatgggaaaacatgtagcg	15	5	1	3	rs11568943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:110883121G>A	ENST00000265171.5	+	8	1737	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	EGF_ENST00000509793.1_Missense_Mutation_p.R389K|EGF_ENST00000503392.1_Missense_Mutation_p.R431K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	431	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> K (in dbSNP:rs11568943). {ECO:0000269|Ref.2}.		activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTGCTTGAGAGAGATGGGAAA	0.398													G|||	828	0.165335	0.2995	0.1167	5008	,	,		20785	0.1944		0.0577	False		,,,				2504	0.0992				p.R431K		Atlas-SNP	.											.	EGF	113	.	0			c.G1292A						PASS	.	G	LYS/ARG,LYS/ARG,LYS/ARG	1035,3371	381.1+/-324.0	132,771,1300	268	273	271		1292,1166,1292	-2.8	0	4	dbSNP_120	271	575,8025	155.5+/-209.5	20,535,3745	yes	missense,missense,missense	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	26,26,26	152,1306,5045	AA,AG,GG		6.686,23.4907,12.3789	benign,benign,benign	431/1167,389/1166,431/1208	110883121	1610,11396	2203	4300	6503	SO:0001583	missense	1950	exon8			TTGAGAGAGATGG	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1292G>A	4.37:g.110883121G>A	ENSP00000265171:p.Arg431Lys	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	190	73	0.384211	NM_001963	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	356	0.163003663003663	149	0.30284552845528456	38	0.10497237569060773	120	0.2097902097902098	49	0.06464379947229551	G	2.294	-0.361788	0.05103	0.234907	0.06686	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87179	-2.22;-2.22;-2.22	5.22	-2.84	0.05751	Epidermal growth factor-like (1);	1.231300	0.05217	N	0.507915	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.06303	-1.0834	9	0.06099	T	0.92	.	4.3771	0.11275	0.2893:0.2917:0.3452:0.0738	rs11568943;rs17041083;rs52832100;rs11568943	431;389;431	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	K	389;431;431	ENSP00000424316:R389K;ENSP00000265171:R431K;ENSP00000421384:R431K	ENSP00000265171:R431K	R	+	2	0	EGF	111102570	0.000000	0.05858	0.031000	0.17742	0.707000	0.40811	-1.978000	0.01494	-0.283000	0.09115	-0.867000	0.03001	AGA	G|0.845;A|0.155	0.155	strong		0.398	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			A	110883121	G	A	110883121	3	1	23	1	0	0	0	0	1	0	0	0	4962	942	33	2	1322	2	EGF	4	110883121	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2307132	110883121	80271155	1223	17679										
EGF	1950	hgsc.bcm.edu	37	chr4	110902111	110902111	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaacgtgtctggctctggAtggtcatcagctgttggcag	14	8	4	0	rs11569017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:110902111A>T	ENST00000265171.5	+	15	2796	c.2351A>T	c.(2350-2352)gAt>gTt	p.D784V	EGF_ENST00000509793.1_Missense_Mutation_p.D742V|EGF_ENST00000503392.1_Missense_Mutation_p.D784V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	784			D -> V (in dbSNP:rs11569017). {ECO:0000269|Ref.2}.		activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTGGCTCTGGATGGTCATCAG	0.418													A|||	385	0.076877	0.0015	0.0865	5008	,	,		19874	0.1944		0.0517	False		,,,				2504	0.0767				p.D784V		Atlas-SNP	.											EGF,NS,adenoma,0,1	EGF	113	1	0			c.A2351T	GRCh37	CM063963	EGF	M	rs11569017	PASS	.	A	VAL/ASP,VAL/ASP,VAL/ASP	59,4347	56.2+/-92.4	0,59,2144	193	188	190		2351,2225,2351	3.7	0	4	dbSNP_120	190	513,8087	146.0+/-201.7	13,487,3800	yes	missense,missense,missense	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	152,152,152	13,546,5944	TT,TA,AA		5.9651,1.3391,4.398	benign,benign,benign	784/1167,742/1166,784/1208	110902111	572,12434	2203	4300	6503	SO:0001583	missense	1950	exon15			CTCTGGATGGTCA	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2351A>T	4.37:g.110902111A>T	ENSP00000265171:p.Asp784Val	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	134	64	0.477612	NM_001963	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	200	0.09157509157509157	2	0.0040650406504065045	30	0.08287292817679558	123	0.21503496503496503	45	0.059366754617414245	A	12.59	1.982226	0.34942	0.013391	0.059651	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87809	-2.3;-2.3;-2.3	4.89	3.67	0.42095	.	0.751267	0.12903	N	0.429603	T	0.00210	0.0006	M	0.62723	1.935	0.54753	P	1.6000000000016E-5	B;B;B	0.20550	0.046;0.004;0.016	B;B;B	0.15052	0.005;0.012;0.005	T	0.21586	-1.0241	9	0.44086	T	0.13	.	9.8902	0.41285	0.8282:0.1718:0.0:0.0	rs11569017;rs52808448;rs11569017	784;742;784	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	742;784;784	ENSP00000424316:D742V;ENSP00000265171:D784V;ENSP00000421384:D784V	ENSP00000265171:D784V	D	+	2	0	EGF	111121560	0.301000	0.24444	0.001000	0.08648	0.270000	0.26580	1.417000	0.34770	0.790000	0.33803	0.459000	0.35465	GAT	A|0.932;T|0.068	0.068	strong		0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			T	110902111	A	T	110902111	3	4	23	1	0	0	0	0	1	0	0	0	4962	333	12	5	2409	5	EGF	4	110902111	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	18990	110902111	80252165	1224	17680										
TIFA	92610	hgsc.bcm.edu	37	chr4	113199075	113199075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgggaggagcagagcgaAtaagtgccatactccggtat	13	8	0	1	rs701759|rs386678484	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:113199075A>G	ENST00000361717.3	-	2	779	c.498T>C	c.(496-498)taT>taC	p.Y166Y	TIFA_ENST00000500655.2_Silent_p.Y166Y	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	166					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AGCAGAGCGAATAAGTGCCAT	0.423													A|||	3256	0.65016	0.8926	0.634	5008	,	,		18519	0.751		0.508	False		,,,				2504	0.3763				p.Y166Y		Atlas-SNP	.											.	TIFA	15	.	0			c.T498C						PASS	.	A		3697,709	757.8+/-412.8	1554,589,60	90	91	91		498	-11.2	0	4	dbSNP_86	91	4495,4105	590.0+/-392.6	1201,2093,1006	no	coding-synonymous	TIFA	NM_052864.2		2755,2682,1066	GG,GA,AA		47.7326,16.0917,37.0137		166/185	113199075	8192,4814	2203	4300	6503	SO:0001819	synonymous_variant	92610	exon2			GAGCGAATAAGTG	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.498T>C	4.37:g.113199075A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	63	63	1	NM_052864		Silent	SNP	ENST00000361717.3	37	CCDS34051.1																																																																																			A|0.344;G|0.656	0.656	strong		0.423	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		G	113199075	A	G	113199075	2	3	23	1	0	0	0	0	0	0	0	1	15891	108	4	2		2	TIFA	4	113199075	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2296964	113199075	77955201	1225	17681										
ALPK1	80216	hgsc.bcm.edu	37	chr4	113345147	113345147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagcagtctaataagcaacAatggagcaacgggtgagtac	12	7	1	2	rs6533616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:113345147A>G	ENST00000458497.1	+	6	802	c.523A>G	c.(523-525)Aat>Gat	p.N175D	ALPK1_ENST00000177648.9_Missense_Mutation_p.N175D|ALPK1_ENST00000504176.2_Missense_Mutation_p.N97D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	175			N -> D (in dbSNP:rs6533616). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATAAGCAACAATGGAGCAAC	0.373													A|||	254	0.0507188	0.053	0.0677	5008	,	,		20200	0.002		0.1163	False		,,,				2504	0.0184				p.N175D		Atlas-SNP	.											.	ALPK1	125	.	0			c.A523G						PASS	.	A	ASP/ASN,ASP/ASN	326,4080	173.4+/-203.2	12,302,1889	124	115	118		523,523	3.2	0.6	4	dbSNP_116	118	960,7640	210.1+/-251.1	43,874,3383	yes	missense,missense	ALPK1	NM_001102406.1,NM_025144.3	23,23	55,1176,5272	GG,GA,AA		11.1628,7.399,9.8877	benign,benign	175/1245,175/1245	113345147	1286,11720	2203	4300	6503	SO:0001583	missense	80216	exon6			AGCAACAATGGAG	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.523A>G	4.37:g.113345147A>G	ENSP00000398048:p.Asn175Asp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	52	12	0.230769	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	150	0.06868131868131869	31	0.06300813008130081	28	0.07734806629834254	2	0.0034965034965034965	89	0.11741424802110818	A	12.05	1.821169	0.32237	0.07399	0.111628	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.29917	1.55;1.55;1.55	5.62	3.16	0.36331	.	0.367258	0.30611	N	0.009252	T	0.00271	0.0008	L	0.32530	0.975	0.40707	P	0.017461999999999978	B;B	0.13145	0.007;0.005	B;B	0.13407	0.009;0.003	T	0.08638	-1.0712	9	0.39692	T	0.17	-4.6853	5.5579	0.17127	0.7087:0.1465:0.1448:0.0	rs6533616;rs17528925;rs56753375;rs6533616	97;175	F5H138;Q96QP1	.;ALPK1_HUMAN	D	175;175;97	ENSP00000398048:N175D;ENSP00000177648:N175D;ENSP00000426044:N97D	ENSP00000177648:N175D	N	+	1	0	ALPK1	113564596	0.478000	0.25917	0.613000	0.29037	0.980000	0.70556	1.242000	0.32755	0.414000	0.25790	0.524000	0.50904	AAT	A|0.920;G|0.080	0.080	strong		0.373	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		G	113345147	A	G	113345147	3	3	23	1	0	0	0	0	1	0	0	0	544	130	5	2	537	2	ALPK1	4	113345147	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	146072	113345147	77809129	1226	17682										
C4orf21	55345	hgsc.bcm.edu	37	chr4	113482146	113482146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttactaactatagttggcGaagacctaataaaaatgaag	8	5	0	2	rs17605622	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:113482146G>A	ENST00000505019.1	-	19	4828	c.4703C>T	c.(4702-4704)tCg>tTg	p.S1568L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1568			S -> L (in dbSNP:rs17605622).			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TATAGTTGGCGAAGACCTAAT	0.328													G|||	187	0.0373403	0.0083	0.0648	5008	,	,		18185	0.0		0.1183	False		,,,				2504	0.0123				p.S1568L		Atlas-SNP	.											.	C4orf21	223	.	0			c.C4703T						PASS	.	G	LEU/SER	84,4318	65.8+/-103.3	1,82,2118	66	61	63		4703	4.2	0.3	4	dbSNP_123	63	859,7735	184.5+/-232.4	44,771,3482	yes	missense	C4orf21	NM_018392.4	145	45,853,5600	AA,AG,GG		9.9953,1.9082,7.2561	benign	1568/2105	113482146	943,12053	2201	4297	6498	SO:0001583	missense	55345	exon19			GTTGGCGAAGACC																												ENST00000505019.1:c.4703C>T	4.37:g.113482146G>A	ENSP00000424737:p.Ser1568Leu	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	102	25	0.245098	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		117	0.05357142857142857	2	0.0040650406504065045	22	0.06077348066298342	0	0.0	93	0.12269129287598944	G	4.932	0.173215	0.09391	0.019082	0.099953	ENSG00000138658	ENST00000505019	T	0.26373	1.74	5.95	4.19	0.49359	.	0.749772	0.12630	N	0.452224	T	0.00271	0.0008	M	0.65975	2.015	0.35547	P	0.19647499999999996	B;P	0.37997	0.202;0.614	B;B	0.19666	0.012;0.026	T	0.16247	-1.0409	9	0.26408	T	0.33	-0.0499	3.9261	0.09263	0.1428:0.1254:0.5945:0.1373	rs17605622;rs17605622	1568;26	G5EA02;B3KQX2	.;.	L	1568	ENSP00000424737:S1568L	ENSP00000404365:S466L	S	-	2	0	C4orf21	113701595	0.008000	0.16893	0.326000	0.25389	0.257000	0.26127	0.359000	0.20233	0.807000	0.34208	-0.145000	0.13849	TCG	G|0.939;A|0.061	0.061	strong		0.328	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			A	113482146	G	A	113482146	3	1	23	1	0	0	0	0	1	0	0	0	2254	1059	37	1	1651	1	C4orf21	4	113482146	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	136999	113482146	77672130	1227	17683										
C4orf21	55345	hgsc.bcm.edu	37	chr4	113524723	113524723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtgctaggtaactctggtGtctctgtcataaagttttca	9	8	4	0	rs17669218	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:113524723G>A	ENST00000505019.1	-	10	3058	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	C4orf21_ENST00000309071.5_Missense_Mutation_p.T978I	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		978			T -> I (in dbSNP:rs17669218).			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAACTCTGGTGTCTCTGTCAT	0.388													G|||	184	0.0367412	0.0068	0.0648	5008	,	,		17252	0.0		0.1183	False		,,,				2504	0.0112				p.T978I		Atlas-SNP	.											.	C4orf21	223	.	0			c.C2933T						PASS	.	G	ILE/THR	76,4330	67.0+/-104.6	1,74,2128	216	176	190		2933	1.6	0	4	dbSNP_123	190	866,7734	195.9+/-241.0	46,774,3480	yes	missense	C4orf21	NM_018392.4	89	47,848,5608	AA,AG,GG		10.0698,1.7249,7.2428	probably-damaging	978/2105	113524723	942,12064	2203	4300	6503	SO:0001583	missense	55345	exon10			TCTGGTGTCTCTG																												ENST00000505019.1:c.2933C>T	4.37:g.113524723G>A	ENSP00000424737:p.Thr978Ile	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	90	19	0.211111	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		117	0.05357142857142857	2	0.0040650406504065045	22	0.06077348066298342	0	0.0	93	0.12269129287598944	G	11.10	1.539541	0.27563	0.017249	0.100698	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.81821	-1.54;1.88	5.38	1.63	0.23807	.	0.602886	0.15072	N	0.282141	T	0.03095	0.0091	L	0.60455	1.87	0.80722	P	0.0	B;B	0.24186	0.099;0.069	B;B	0.24701	0.034;0.055	T	0.47861	-0.9084	9	0.87932	D	0	0.4098	4.8825	0.13686	0.1598:0.0:0.5436:0.2966	rs17669218;rs52823729;rs57738409;rs17669218	978;978	Q86YA3;G5EA02	CD021_HUMAN;.	I	978	ENSP00000424737:T978I;ENSP00000309095:T978I	ENSP00000309095:T978I	T	-	2	0	C4orf21	113744172	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.313000	0.19415	-0.012000	0.14223	-0.266000	0.10368	ACA	G|0.937;A|0.063	0.063	strong		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			A	113524723	G	A	113524723	3	1	23	1	0	0	0	0	1	0	0	0	2254	1377	48	2	3457	2	C4orf21	4	113524723	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	42577	113524723	77629553	1228	17684										
NDST3	9348	hgsc.bcm.edu	37	chr4	118975189	118975189	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggctacaaacaggaaaatGaactctctgagacggcttca	10	9	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:118975189G>T	ENST00000296499.5	+	2	527	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.E42*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	42	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACAGGAAAATGAACTCTCTGA	0.423																																					p.E42X		Atlas-SNP	.											.	NDST3	107	.	0			c.G124T						PASS	.						122	119	120					4																	118975189		2203	4300	6503	SO:0001587	stop_gained	9348	exon2			GAAAATGAACTCT	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.124G>T	4.37:g.118975189G>T	ENSP00000296499:p.Glu42*	Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	123	60	0.487805	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Nonsense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624220	0.96660	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	.	.	.	5.82	4.98	0.66077	.	0.262983	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.9424	0.52909	0.0:0.1318:0.7311:0.1371	.	.	.	.	X	42	.	ENSP00000296499:E42X	E	+	1	0	NDST3	119194637	1.000000	0.71417	0.305000	0.25099	0.920000	0.55202	7.237000	0.78164	1.441000	0.47550	0.650000	0.86243	GAA	.	.	none		0.423	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		T	118975189	G	T	118975189	4	4	23	1	0	0	0	0	0	1	0	0	10257	1291	45	4	126	4	NDST3	4	118975189	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5450466	118975189	72179087	1229	17685										
NDST3	9348	hgsc.bcm.edu	37	chr4	119161795	119161795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaagagatgtttggtcccGgggtggtatgccagccacat	14	9	0	2	rs617430	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:119161795G>A	ENST00000296499.5	+	11	2638	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	745	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.P745P(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTTTGGTCCCGGGGTGGTATG	0.488													G|||	1244	0.248403	0.0454	0.3588	5008	,	,		15669	0.2083		0.3688	False		,,,				2504	0.362				p.P745P		Atlas-SNP	.											NDST3,NS,carcinoma,0,1	NDST3	107	1	1	Substitution - coding silent(1)	prostate(1)	c.G2235A						PASS	.	G		420,3986	205.8+/-227.6	30,360,1813	85	80	82		2235	-11	0.4	4	dbSNP_83	82	3443,5157	506.3+/-376.6	683,2077,1540	no	coding-synonymous	NDST3	NM_004784.2		713,2437,3353	AA,AG,GG		40.0349,9.5325,29.7017		745/874	119161795	3863,9143	2203	4300	6503	SO:0001819	synonymous_variant	9348	exon11			GGTCCCGGGGTGG	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2235G>A	4.37:g.119161795G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	87	24	0.275862	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	CCDS3708.1																																																																																			G|0.732;A|0.268	0.268	strong		0.488	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		A	119161795	G	A	119161795	2	1	23	1	0	0	0	0	0	0	0	1	10257	1103	39	1		1	NDST3	4	119161795	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	186606	119161795	71992481	1230	17686										
USP53	54532	hgsc.bcm.edu	37	chr4	120181724	120181724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattgcccagagattgttacAattggtttagtctgggactc	10	7	1	1	rs35372126	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:120181724A>G	ENST00000274030.6	+	11	1917	c.738A>G	c.(736-738)acA>acG	p.T246T	USP53_ENST00000450251.1_Silent_p.T246T	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						AGATTGTTACAATTGGTTTAG	0.353													A|||	1190	0.23762	0.0666	0.3372	5008	,	,		15472	0.2629		0.2724	False		,,,				2504	0.3364				p.T246T		Atlas-SNP	.											.	USP53	69	.	0			c.A738G						PASS	.	A		347,3325		17,313,1506	144	132	136		738	-0.9	1	4	dbSNP_126	136	2141,6027		293,1555,2236	no	coding-synonymous	USP53	NM_019050.2		310,1868,3742	GG,GA,AA		26.212,9.4499,21.0135		246/1074	120181724	2488,9352	1836	4084	5920	SO:0001819	synonymous_variant	54532	exon10			TGTTACAATTGGT	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.738A>G	4.37:g.120181724A>G		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	123	30	0.243902	NM_019050		Silent	SNP	ENST00000274030.6	37	CCDS43265.1																																																																																			A|0.753;G|0.247	0.247	strong		0.353	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		G	120181724	A	G	120181724	2	3	23	1	0	0	0	0	0	0	0	1	17081	117	5	2		2	USP53	4	120181724	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1019929	120181724	70972552	1231	17687										
PRDM5	11107	hgsc.bcm.edu	37	chr4	121737704	121737704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacaaacctggcatccccccGgcaagtctcctggtgctgct	9	17	1	0	rs190835070		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:121737704G>A	ENST00000264808.3	-	7	1009	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	PRDM5_ENST00000515109.1_Missense_Mutation_p.R226W|PRDM5_ENST00000428209.2_Missense_Mutation_p.R226W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	257					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCATCCCCCCGGCAAGTCTCC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18108	0.0		0.001	False		,,,				2504	0.0				p.R257W		Atlas-SNP	.											PRDM5,NS,carcinoma,+1,1	PRDM5	76	1	0			c.C769T						scavenged	.	G	TRP/ARG	0,4406		0,0,2203	55	51	52		769	4.2	0.9	4		52	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRDM5	NM_018699.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	257/631	121737704	2,13004	2203	4300	6503	SO:0001583	missense	11107	exon7			CCCCCCGGCAAGT	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.769C>T	4.37:g.121737704G>A	ENSP00000264808:p.Arg257Trp	Somatic	99	1	0.010101		WXS	Illumina HiSeq	Phase_I	78	24	0.307692	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.5	4.419624	0.83559	0.0	2.33E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.15372	2.43;2.43;2.43	6.07	4.24	0.50183	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.270689	0.41396	D	0.000900	T	0.29321	0.0730	L	0.48362	1.52	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.978	B;P;B	0.56916	0.425;0.809;0.306	T	0.04635	-1.0937	10	0.87932	D	0	-1.8067	14.4681	0.67497	0.0:0.0:0.5912:0.4088	.	226;226;257	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	W	257;226;226	ENSP00000264808:R257W;ENSP00000422309:R226W;ENSP00000404832:R226W	ENSP00000264808:R257W	R	-	1	2	PRDM5	121957154	1.000000	0.71417	0.861000	0.33841	0.998000	0.95712	3.119000	0.50422	1.546000	0.49388	0.655000	0.94253	CGG	G|1.000;A|0.000	0.000	strong		0.493	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			A	121737704	G	A	121737704	3	1	23	1	0	0	0	0	1	0	0	0	12460	1115	39	1	1163	1	PRDM5	4	121737704	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1555980	121737704	69416572	1232	17688										
TRPC3	7222	hgsc.bcm.edu	37	chr4	122824052	122824052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttctatatccttctgaagCcttctccttctgcatttggg	6	11	4	1	rs11732666	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:122824052C>T	ENST00000379645.3	-	9	2491	c.2418G>A	c.(2416-2418)agG>agA	p.R806R	TRPC3_ENST00000264811.5_Silent_p.R733R|TRPC3_ENST00000513531.1_Silent_p.R678R	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	721					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTTCTGAAGCCTTCTCCTTC	0.358													C|||	1399	0.279353	0.0961	0.4049	5008	,	,		17706	0.4137		0.3121	False		,,,				2504	0.2658				p.R806R		Atlas-SNP	.											.	TRPC3	201	.	0			c.G2418A						PASS	.	C	,	586,3820	257.7+/-262.0	40,506,1657	123	114	117		2418,2199	2.7	1	4	dbSNP_120	117	2851,5749	448.1+/-361.7	499,1853,1948	no	coding-synonymous,coding-synonymous	TRPC3	NM_001130698.1,NM_003305.2	,	539,2359,3605	TT,TC,CC		33.1512,13.3,26.4263	,	806/922,733/849	122824052	3437,9569	2203	4300	6503	SO:0001819	synonymous_variant	7222	exon9			CTGAAGCCTTCTC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2418G>A	4.37:g.122824052C>T		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	112	110	0.982143	NM_001130698	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																			C|0.721;T|0.279	0.279	strong		0.358	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		T	122824052	C	T	122824052	2	4	23	1	0	0	0	0	0	0	0	1	16576	738	26	2		2	TRPC3	4	122824052	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1086348	122824052	68330224	1233	17689										
IL2	3558	hgsc.bcm.edu	37	chr4	123377482	123377482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaatcatctgtaaatccagCagtaaatgctccagttgtag	7	8	2	0	rs2069763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:123377482C>A	ENST00000226730.4	-	1	398	c.114G>T	c.(112-114)ctG>ctT	p.L38L		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	38					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	GTAAATCCAGCAGTAAATGCT	0.333			T	TNFRSF17	intestinal T-cell lymphoma								C|||	1496	0.298722	0.0772	0.4366	5008	,	,		18545	0.4613		0.3449	False		,,,				2504	0.2853				p.L38L		Atlas-SNP	.		Dom	yes		4	4q26-q27	3558	interleukin 2		L	.	IL2	23	.	0			c.G114T	GRCh37	CS060537	IL2	S	rs2069763	PASS	.	C		558,3848	247.8+/-255.9	37,484,1682	115	107	110		114	1.4	0	4	dbSNP_96	110	2791,5809	439.8+/-359.3	452,1887,1961	no	coding-synonymous	IL2	NM_000586.3		489,2371,3643	AA,AC,CC		32.4535,12.6645,25.7497		38/154	123377482	3349,9657	2203	4300	6503	SO:0001819	synonymous_variant	3558	exon1			ATCCAGCAGTAAA	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"Interleukins and interleukin receptors"	6001	protein-coding gene	gene with protein product	"T cell growth factor"	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.114G>T	4.37:g.123377482C>A		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	90	89	0.988889	NM_000586	P01585	Silent	SNP	ENST00000226730.4	37	CCDS3726.1																																																																																			C|0.718;A|0.282	0.282	strong		0.333	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			A	123377482	C	A	123377482	2	1	23	1	0	0	0	0	0	0	0	1	7666	697	25	4		4	IL2	4	123377482	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	553430	123377482	67776794	1234	17690										
NUDT6	11162	hgsc.bcm.edu	37	chr4	123814308	123814308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggatttgtgtgctgttgcCgaatactcaggacggacctg	13	9	1	0	rs1048201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:123814308C>T	ENST00000304430.5	-	5	659	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	NUDT6_ENST00000339154.2_Missense_Mutation_p.R40Q|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000608639.1_5'Flank|NUDT6_ENST00000502270.1_Missense_Mutation_p.R40Q|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	209	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.		R -> Q (in dbSNP:rs1048201).			mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.R40Q(2)|p.R209Q(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GTGCTGTTGCCGAATACTCAG	0.403													C|||	1146	0.228834	0.0416	0.1499	5008	,	,		18285	0.4554		0.1779	False		,,,				2504	0.3569				p.R209Q		Atlas-SNP	.											NUDT6_ENST00000304430,NS,carcinoma,0,3	NUDT6	50	3	3	Substitution - Missense(3)	prostate(2)|stomach(1)	c.G626A	GRCh37	CM065349	NUDT6	M	rs1048201	PASS	.	C	,GLN/ARG,GLN/ARG	289,4117	158.9+/-191.5	10,269,1924	87	91	90		,626,119	5.4	1	4	dbSNP_86	90	1501,7099	284.4+/-296.6	136,1229,2935	yes	utr-3,missense,missense	FGF2,NUDT6	NM_002006.4,NM_007083.3,NM_198041.1	,43,43	146,1498,4859	TT,TC,CC		17.4535,6.5592,13.7629	,probably-damaging,probably-damaging	,209/317,40/148	123814308	1790,11216	2203	4300	6503	SO:0001583	missense	11162	exon5			TGTTGCCGAATAC	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.626G>A	4.37:g.123814308C>T	ENSP00000306070:p.Arg209Gln	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	58	13	0.224138	NM_007083	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	472	0.21611721611721613	18	0.036585365853658534	56	0.15469613259668508	262	0.458041958041958	136	0.17941952506596306	C	33	5.258099	0.95368	0.065592	0.174535	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.07688	3.17;3.17;3.17	5.41	5.41	0.78517	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.89840	3.065	0.09310	P	0.99999999579817	D	0.89917	1.0	D	0.91635	0.999	T	0.41233	-0.9520	9	0.66056	D	0.02	-11.2049	19.2326	0.93846	0.0:1.0:0.0:0.0	rs1048201;rs3172523;rs3804157;rs52813414;rs58707045;rs1048201	209	P53370	NUDT6_HUMAN	Q	209;40;40	ENSP00000306070:R209Q;ENSP00000344011:R40Q;ENSP00000424117:R40Q	ENSP00000306070:R209Q	R	-	2	0	NUDT6	124033758	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.013000	0.76373	2.538000	0.85594	0.650000	0.86243	CGG	C|0.825;T|0.175	0.175	strong		0.403	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		T	123814308	C	T	123814308	3	4	23	1	0	0	0	0	1	0	0	0	10743	652	23	1	328	1	NUDT6	4	123814308	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	436826	123814308	67339968	1235	17691										
FAT4	79633	hgsc.bcm.edu	37	chr4	126237971	126237971	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgacaacgcccccgttttCccggacccctctatcgtggt	8	16	1	1	rs72928772	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:126237971C>T	ENST00000394329.3	+	1	418	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCCCGTTTTCCCGGACCCCT	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	653	0.130391	0.0696	0.1354	5008	,	,		17170	0.0982		0.2197	False		,,,				2504	0.1503				p.F135F		Atlas-SNP	.											.	FAT4	1752	.	0			c.C405T						PASS	.	C		353,3723		14,325,1699	33	38	36		405	5.4	1	4	dbSNP_130	36	1818,6592		193,1432,2580	no	coding-synonymous	FAT4	NM_024582.4		207,1757,4279	TT,TC,CC		21.6171,8.6605,17.3875		135/4982	126237971	2171,10315	2038	4205	6243	SO:0001819	synonymous_variant	79633	exon1			CGTTTTCCCGGAC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.405C>T	4.37:g.126237971C>T		Somatic	78	0	0	1548	WXS	Illumina HiSeq	Phase_I	45	6	0.133333	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			C|0.831;T|0.169	0.169	strong		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126237971	C	T	126237971	2	4	23	1	0	0	0	0	0	0	0	1	5692	854	30	2		2	FAT4	4	126237971	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2423663	126237971	64916305	1236	17692										
FAT4	79633	hgsc.bcm.edu	37	chr4	126238924	126238924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccctggcgcagcagtccAggcgcgctcttctgtggcaa	13	16	2	0	rs6847454	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:126238924A>T	ENST00000394329.3	+	1	1371	c.1358A>T	c.(1357-1359)cAg>cTg	p.Q453L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> L (in dbSNP:rs6847454).		branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCAGTCCAGGCGCGCTCT	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	2135	0.426318	0.615	0.4092	5008	,	,		18623	0.2371		0.4205	False		,,,				2504	0.3845				p.Q453L		Atlas-SNP	.											.	FAT4	1752	.	0			c.A1358T						PASS	.	A	LEU/GLN	2215,1847		622,971,438	43	46	45		1358	-2.6	0.1	4	dbSNP_116	45	3559,4781		753,2053,1364	yes	missense	FAT4	NM_024582.4	113	1375,3024,1802	TT,TA,AA		42.6739,45.4702,46.557	benign	453/4982	126238924	5774,6628	2031	4170	6201	SO:0001583	missense	79633	exon1			CAGTCCAGGCGCG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1358A>T	4.37:g.126238924A>T	ENSP00000377862:p.Gln453Leu	Somatic	176	0	0	1548	WXS	Illumina HiSeq	Phase_I	97	20	0.206186	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	914	0.4184981684981685	309	0.6280487804878049	150	0.4143646408839779	134	0.23426573426573427	321	0.4234828496042216	A	1.356	-0.590036	0.03799	0.545298	0.426739	ENSG00000196159	ENST00000394329	T	0.53640	0.61	3.81	-2.64	0.06114	Cadherin (4);Cadherin-like (1);	1.015660	0.07944	U	0.979875	T	0.00012	0.0000	N	0.08118	0	0.38401	P	0.05432099999999995	B	0.09022	0.002	B	0.13407	0.009	T	0.45101	-0.9284	9	0.28530	T	0.3	.	7.174	0.25734	0.3191:0.1978:0.4831:0.0	rs6847454;rs52793335;rs58376448;rs6847454	453	Q6V0I7	FAT4_HUMAN	L	453	ENSP00000377862:Q453L	ENSP00000377862:Q453L	Q	+	2	0	FAT4	126458374	0.049000	0.20398	0.080000	0.20451	0.545000	0.35147	0.150000	0.16263	-0.504000	0.06577	0.459000	0.35465	CAG	A|0.518;T|0.482	0.482	strong		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126238924	A	T	126238924	3	4	23	1	0	0	0	0	1	0	0	0	5692	188	7	5	1360	5	FAT4	4	126238924	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	953	126238924	64915352	1237	17693										
FAT4	79633	hgsc.bcm.edu	37	chr4	126239986	126239986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggtttttgagaacgtggCgctgggatatcatgtgggta	16	4	1	1	rs1039808	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:126239986C>T	ENST00000394329.3	+	1	2433	c.2420C>T	c.(2419-2421)gCg>gTg	p.A807V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	807	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> V (in dbSNP:rs1039808).		branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGAACGTGGCGCTGGGATAT	0.458													C|||	2124	0.424121	0.6142	0.4092	5008	,	,		20537	0.2252		0.4205	False		,,,				2504	0.3865				p.A807V		Atlas-SNP	.											.	FAT4	1752	.	0			c.C2420T						PASS	.	C	VAL/ALA	2195,1853		617,961,446	144	139	140		2420	5.1	1	4	dbSNP_86	140	3568,4802		759,2050,1376	yes	missense	FAT4	NM_024582.4	64	1376,3011,1822	TT,TC,CC		42.6284,45.7757,46.4084	benign	807/4982	126239986	5763,6655	2024	4185	6209	SO:0001583	missense	79633	exon1			ACGTGGCGCTGGG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2420C>T	4.37:g.126239986C>T	ENSP00000377862:p.Ala807Val	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	142	38	0.267606	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	906	0.41483516483516486	308	0.6260162601626016	150	0.4143646408839779	126	0.2202797202797203	322	0.42480211081794195	C	13.50	2.255592	0.39896	0.542243	0.426284	ENSG00000196159	ENST00000394329	T	0.01804	4.63	5.13	5.13	0.70059	Cadherin (3);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.00012	0.0000	L	0.38838	1.175	0.09310	P	1.0	P	0.36959	0.575	B	0.37550	0.253	T	0.10730	-1.0617	9	0.49607	T	0.09	.	18.603	0.91256	0.0:1.0:0.0:0.0	rs1039808;rs59138655;rs1039808	807	Q6V0I7	FAT4_HUMAN	V	807	ENSP00000377862:A807V	ENSP00000377862:A807V	A	+	2	0	FAT4	126459436	0.997000	0.39634	0.997000	0.53966	0.476000	0.33039	3.596000	0.54024	2.396000	0.81511	0.655000	0.94253	GCG	C|0.580;T|0.420	0.420	strong		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126239986	C	T	126239986	3	4	23	1	0	0	0	0	1	0	0	0	5692	768	27	1	2422	1	FAT4	4	126239986	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1062	126239986	64914290	1238	17694										
FAT4	79633	hgsc.bcm.edu	37	chr4	126241565	126241565	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacatgagaattggtgaactCgtgtcctctgttactgcaac	9	9	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:126241565C>T	ENST00000394329.3	+	1	4012	c.3999C>T	c.(3997-3999)ctC>ctT	p.L1333L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1333	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1333L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGGTGAACTCGTGTCCTCTG	0.358																																					p.L1333L		Atlas-SNP	.											FAT4_ENST00000394329,NS,carcinoma,0,2	FAT4	1752	2	4	Substitution - coding silent(4)	lung(4)	c.C3999T						PASS	.						139	131	133					4																	126241565		1890	4108	5998	SO:0001819	synonymous_variant	79633	exon1			TGAACTCGTGTCC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3999C>T	4.37:g.126241565C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	93	54	0.580645	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			.	.	none		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126241565	C	T	126241565	2	4	23	1	0	0	0	0	0	0	0	1	5692	871	31	1		1	FAT4	4	126241565	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1579	126241565	64912711	1239	17695										
FAT4	79633	hgsc.bcm.edu	37	chr4	126372742	126372742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catggaaaacaaacggccagGcactttggtgatgacccttc	10	11	0	2	rs1567047	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:126372742G>A	ENST00000394329.3	+	9	10584	c.10571G>A	c.(10570-10572)gGc>gAc	p.G3524D	FAT4_ENST00000335110.5_Missense_Mutation_p.G1822D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3524	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> D (in dbSNP:rs1567047).		branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAACGGCCAGGCACTTTGGTG	0.478													G|||	1155	0.230631	0.0242	0.2522	5008	,	,		18233	0.3909		0.2952	False		,,,				2504	0.2628				p.G3524D		Atlas-SNP	.											.	FAT4	1752	.	0			c.G10571A						PASS	.	G	ASP/GLY	292,4114	157.8+/-190.6	10,272,1921	121	118	119		10571	5.8	0.9	4	dbSNP_88	119	2578,6022	417.3+/-352.4	400,1778,2122	yes	missense	FAT4	NM_024582.4	94	410,2050,4043	AA,AG,GG		29.9767,6.6273,22.0667	probably-damaging	3524/4982	126372742	2870,10136	2203	4300	6503	SO:0001583	missense	79633	exon9			GGCCAGGCACTTT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10571G>A	4.37:g.126372742G>A	ENSP00000377862:p.Gly3524Asp	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	117	112	0.957265	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	565	0.2586996336996337	15	0.03048780487804878	107	0.2955801104972376	225	0.39335664335664333	218	0.287598944591029	G	23.6	4.435957	0.83885	0.066273	0.299767	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54071	0.59;0.59	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.000000	0.33670	U	0.004671	T	0.00012	0.0000	M	0.77616	2.38	0.09310	P	0.9999999999954321	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.05801	-1.0863	9	0.66056	D	0.02	.	19.9983	0.97395	0.0:0.0:1.0:0.0	rs1567047;rs52797800;rs60153785;rs1567047	1822;3524;3524	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	3524;1822	ENSP00000377862:G3524D;ENSP00000335169:G1822D	ENSP00000335169:G1822D	G	+	2	0	FAT4	126592192	1.000000	0.71417	0.935000	0.37517	0.783000	0.44284	9.666000	0.98612	2.724000	0.93272	0.561000	0.74099	GGC	G|0.769;A|0.231	0.231	strong		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126372742	G	A	126372742	3	1	23	1	0	0	0	0	1	0	0	0	5692	1203	42	2	10605	2	FAT4	4	126372742	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131177	126372742	64781534	1240	17696										
PHF17	79960	hgsc.bcm.edu	37	chr4	129792787	129792787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagagagctttttgggtttAgaaaagacctttgcagaagc	11	7	0	4	rs6850940	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:129792787A>G	ENST00000226319.6	+	11	2179	c.1899A>G	c.(1897-1899)ttA>ttG	p.L633L	PHF17_ENST00000512960.1_Silent_p.L633L|PHF17_ENST00000452328.2_Silent_p.L621L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTTTGGGTTTAGAAAAGACCT	0.483													G|||	111	0.0221645	0.0734	0.0144	5008	,	,		18630	0.0		0.002	False		,,,				2504	0.002				p.L633L		Atlas-SNP	.											.	PHF17	63	.	0			c.A1899G						PASS	.	G		329,4077	793.1+/-415.2	13,303,1887	62	66	65		1899	-4.7	0.1	4	dbSNP_116	65	10,8590	817.4+/-406.9	0,10,4290	no	coding-synonymous	PHF17	NM_199320.2		13,313,6177	GG,GA,AA		0.1163,7.4671,2.6065		633/843	129792787	339,12667	2203	4300	6503	SO:0001819	synonymous_variant	79960	exon11			GGGTTTAGAAAAG																												ENST00000226319.6:c.1899A>G	4.37:g.129792787A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	86	22	0.255814	NM_199320		Silent	SNP	ENST00000226319.6	37	CCDS34062.1																																																																																			A|0.972;G|0.028	0.028	strong		0.483	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			G	129792787	A	G	129792787	2	3	23	1	0	0	0	0	0	0	0	1	11828	417	15	3		3	PHF17	4	129792787	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3420045	129792787	61361489	1241	17697										
PHF17	79960	hgsc.bcm.edu	37	chr4	129792873	129792873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatgggaaaagaagagacaAtcgttttcattgtgatctca	9	7	2	3	rs6855813	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:129792873A>G	ENST00000226319.6	+	11	2265	c.1985A>G	c.(1984-1986)aAt>aGt	p.N662S	PHF17_ENST00000512960.1_Missense_Mutation_p.N662S|PHF17_ENST00000452328.2_Missense_Mutation_p.N650S	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGAAGAGACAATCGTTTTCAT	0.423													A|||	112	0.0223642	0.0734	0.0144	5008	,	,		21259	0.001		0.002	False		,,,				2504	0.002				p.N662S		Atlas-SNP	.											.	PHF17	63	.	0			c.A1985G						PASS	.	A	SER/ASN	329,4077	170.5+/-200.9	13,303,1887	77	76	76		1985	2.2	1	4	dbSNP_116	76	11,8589	8.4+/-32.0	0,11,4289	yes	missense	PHF17	NM_199320.2	46	13,314,6176	GG,GA,AA		0.1279,7.4671,2.6142	benign	662/843	129792873	340,12666	2203	4300	6503	SO:0001583	missense	79960	exon11			GAGACAATCGTTT																												ENST00000226319.6:c.1985A>G	4.37:g.129792873A>G	ENSP00000226319:p.Asn662Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	96	21	0.21875	NM_199320		Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	50	0.022893772893772892	43	0.08739837398373984	5	0.013812154696132596	0	0.0	2	0.002638522427440633	A	0.959	-0.703925	0.03255	0.074671	0.001279	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.38401	1.14;1.15;1.14	4.59	2.25	0.28309	.	0.840784	0.11323	N	0.575875	T	0.00580	0.0019	N	0.04880	-0.145	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17349	-1.0372	9	.	.	.	.	7.662	0.28409	0.7588:0.0:0.2412:0.0	rs6855813;rs6855813	650;662	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	S	662;650;662;662	ENSP00000226319:N662S;ENSP00000388015:N650S;ENSP00000425730:N662S	.	N	+	2	0	PHF17	130012323	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.779000	0.38624	0.910000	0.36722	0.533000	0.62120	AAT	A|0.972;G|0.028	0.028	strong		0.423	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			G	129792873	A	G	129792873	3	3	23	1	0	0	0	0	1	0	0	0	11828	101	4	2	2050	2	PHF17	4	129792873	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	86	129792873	61361403	1242	17698										
SCLT1	132320	hgsc.bcm.edu	37	chr4	129867280	129867280	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccagttttctgtaatcacTctcatttcctctgccttcac	3	14	5	0	rs10028124	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:129867280T>A	ENST00000281142.5	-	16	1824	c.1321A>T	c.(1321-1323)Agt>Tgt	p.S441C	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	441			S -> C (in dbSNP:rs10028124). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGTAATCACTCTCATTTCCT	0.348													T|||	3807	0.760184	0.9599	0.7637	5008	,	,		14832	0.7044		0.673	False		,,,				2504	0.635				p.S441C		Atlas-SNP	.											.	SCLT1	136	.	0			c.A1321T						PASS	.	T	CYS/SER	4025,379	788.6+/-414.9	1839,347,16	98	91	93		1321	1.5	1	4	dbSNP_119	93	5628,2968	665.6+/-402.3	1866,1896,536	yes	missense	SCLT1	NM_144643.2	112	3705,2243,552	AA,AT,TT		34.5277,8.6058,25.7462	possibly-damaging	441/689	129867280	9653,3347	2202	4298	6500	SO:0001583	missense	132320	exon16			AATCACTCTCATT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1321A>T	4.37:g.129867280T>A	ENSP00000281142:p.Ser441Cys	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	112	111	0.991071	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	1619	0.7413003663003663	465	0.9451219512195121	270	0.7458563535911602	387	0.6765734265734266	497	0.6556728232189973	T	15.55	2.867699	0.51588	0.913942	0.654723	ENSG00000151466	ENST00000281142	T	0.30981	1.51	4.39	1.5	0.22942	.	0.681258	0.15234	N	0.273277	T	0.00012	0.0000	L	0.40543	1.245	0.09310	P	0.9999999618503	D	0.55800	0.973	P	0.53360	0.724	T	0.23048	-1.0199	8	.	.	.	-0.2858	6.1918	0.20528	0.0:0.3324:0.0:0.6676	rs10028124;rs52819094	441	Q96NL6	SCLT1_HUMAN	C	441	ENSP00000281142:S441C	.	S	-	1	0	SCLT1	130086730	0.035000	0.19736	0.999000	0.59377	0.710000	0.40934	0.010000	0.13242	0.594000	0.29761	0.454000	0.30748	AGT	T|0.257;A|0.743	0.743	strong		0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		A	129867280	T	A	129867280	3	1	23	1	0	0	0	0	1	0	0	0	13906	1551	54	5	769	5	SCLT1	4	129867280	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	74407	129867280	61286996	1243	17699										
C4orf49	84709	hgsc.bcm.edu	37	chr4	140188094	140188094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttatgaccacaactgtagCactgggactttcttcagcat	7	10	2	1	rs3208941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:140188094C>T	ENST00000398955.1	-	4	561	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	128			A -> T (in dbSNP:rs3208941).		anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											ACAACTGTAGCACTGGGACTT	0.517													C|||	261	0.0521166	0.0318	0.0476	5008	,	,		17941	0.1052		0.0507	False		,,,				2504	0.0297				p.A128T		Atlas-SNP	.											.	.	.	.	0			c.G382A						PASS	.	C	THR/ALA	175,3857		4,167,1845	166	159	161		382	5.3	0	4	dbSNP_105	161	567,7815		15,537,3639	yes	missense	C4orf49	NM_032623.3	58	19,704,5484	TT,TC,CC		6.7645,4.3403,5.9771	possibly-damaging	128/241	140188094	742,11672	2016	4191	6207	SO:0001583	missense	84709	exon4			CTGTAGCACTGGG	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.382G>A	4.37:g.140188094C>T	ENSP00000381928:p.Ala128Thr	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	139	23	0.165468	NM_032623	Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	110	0.05036630036630037	17	0.034552845528455285	10	0.027624309392265192	49	0.08566433566433566	34	0.044854881266490766	C	14.42	2.528927	0.44969	0.043403	0.067645	ENSG00000137463	ENST00000398955	T	0.49432	0.78	5.31	5.31	0.75309	.	0.559675	0.18543	N	0.138136	T	0.02047	0.0064	L	0.41710	1.295	0.80722	D	1	P	0.35745	0.518	B	0.36504	0.226	T	0.02059	-1.1221	10	0.87932	D	0	-11.2069	14.4853	0.67614	0.0:1.0:0.0:0.0	rs3208941;rs52834247;rs3208941	128	Q8TDB4	CD049_HUMAN	T	128	ENSP00000381928:A128T	ENSP00000381928:A128T	A	-	1	0	C4orf49	140407544	0.000000	0.05858	0.020000	0.16555	0.004000	0.04260	0.517000	0.22832	2.481000	0.83766	0.467000	0.42956	GCT	C|0.944;T|0.056	0.056	strong		0.517	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		T	140188094	C	T	140188094	3	4	23	1	0	0	0	0	1	0	0	0	2275	710	25	2	344	2	C4orf49	4	140188094	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10320814	140188094	50966182	1244	17700										
CLGN	1047	hgsc.bcm.edu	37	chr4	141313500	141313500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttgtggtatacatatgtcGgtttttttatactctgtatc	8	5	1	0	rs34492995	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:141313500G>A	ENST00000325617.5	-	13	1964	c.1524C>T	c.(1522-1524)acC>acT	p.T508T	CLGN_ENST00000537281.1_Silent_p.T508T|CLGN_ENST00000414773.1_Silent_p.T508T	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	508					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TACATATGTCGGTTTTTTTAT	0.333													G|||	19	0.00379393	0.0008	0.0043	5008	,	,		16252	0.0		0.0139	False		,,,				2504	0.001				p.T508T		Atlas-SNP	.											.	CLGN	76	.	0			c.C1524T						PASS	.	G	,	10,4396	16.8+/-37.8	0,10,2193	129	123	125		1524,1524	-9.4	0	4	dbSNP_126	125	131,8469	66.7+/-129.0	3,125,4172	no	coding-synonymous,coding-synonymous	CLGN	NM_001130675.1,NM_004362.2	,	3,135,6365	AA,AG,GG		1.5233,0.227,1.0841	,	508/611,508/611	141313500	141,12865	2203	4300	6503	SO:0001819	synonymous_variant	1047	exon14			TATGTCGGTTTTT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1524C>T	4.37:g.141313500G>A		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	163	117	0.717791	NM_001130675	B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	CCDS3751.1																																																																																			G|0.992;A|0.008	0.008	strong		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		A	141313500	G	A	141313500	2	1	23	1	0	0	0	0	0	0	0	1	3524	1103	39	1		1	CLGN	4	141313500	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1125406	141313500	49840776	1245	17701										
POU4F2	5458	hgsc.bcm.edu	37	chr4	147561804	147561804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcgctgcgccagagaagcgCtcgctcgaagcctactttgc	11	14	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:147561804C>T	ENST00000281321.3	+	2	1322	c.1074C>T	c.(1072-1074)cgC>cgT	p.R358R	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	358					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CAGAGAAGCGCTCGCTCGAAG	0.602																																					p.R358R		Atlas-SNP	.											POU4F2,caecum,carcinoma,+1,1	POU4F2	83	1	0			c.C1074T						scavenged	.						74	77	76					4																	147561804		2203	4300	6503	SO:0001819	synonymous_variant	5458	exon2			GAAGCGCTCGCTC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1074C>T	4.37:g.147561804C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	55	3	0.0545455	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	CCDS34074.1																																																																																			.	.	none		0.602	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		T	147561804	C	T	147561804	2	4	23	1	0	0	0	0	0	0	0	1	12279	784	28	2		2	POU4F2	4	147561804	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6248304	147561804	43592472	1246	17702										
LRBA	987	hgsc.bcm.edu	37	chr4	151207127	151207127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctagctccgcacacaccgCagcacatgtgacctcatagt	8	16	1	1	rs3749574	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:151207127C>T	ENST00000357115.3	-	55	8353	c.8110G>A	c.(8110-8112)Gcg>Acg	p.A2704T	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.A2693T|LRBA_ENST00000510413.1_Missense_Mutation_p.A2692T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2704			A -> T (in dbSNP:rs3749574).			cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCACACACCGCAGCACATGTG	0.448													C|||	812	0.162141	0.0363	0.1556	5008	,	,		15875	0.2371		0.3022	False		,,,				2504	0.1155				p.A2704T		Atlas-SNP	.											.	LRBA	253	.	0			c.G8110A						PASS	.	C	THR/ALA,THR/ALA	349,4057	168.7+/-199.5	11,327,1865	68	55	59		8110,8110	4.8	0.6	4	dbSNP_107	59	2554,6046	379.3+/-339.2	380,1794,2126	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	58,58	391,2121,3991	TT,TC,CC		29.6977,7.921,22.3205	benign,benign	2704/2864,2704/2864	151207127	2903,10103	2203	4300	6503	SO:0001583	missense	987	exon55			ACACCGCAGCACA	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8110G>A	4.37:g.151207127C>T	ENSP00000349629:p.Ala2704Thr	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	168	118	0.702381	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	459	0.21016483516483517	15	0.03048780487804878	72	0.19889502762430938	147	0.256993006993007	225	0.29683377308707126	C	9.955	1.221347	0.22457	0.07921	0.296977	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	T;T;T	0.50548	0.74;0.89;0.75	5.78	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.103999	0.64402	D	0.000005	T	0.00012	0.0000	N	0.17474	0.49	0.44048	P	0.0032170000000000254	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.003;0.005;0.002	T	0.12142	-1.0559	9	0.38643	T	0.18	.	9.3169	0.37939	0.0:0.7762:0.0:0.2238	rs3749574;rs17588321;rs52792932;rs57711446;rs3749574	2704;2693;2692;599	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	T	2693;2692;2704	ENSP00000446299:A2693T;ENSP00000421552:A2692T;ENSP00000349629:A2704T	ENSP00000349629:A2704T	A	-	1	0	LRBA	151426577	0.917000	0.31117	0.598000	0.28837	0.793000	0.44817	1.932000	0.40143	2.717000	0.92951	0.650000	0.86243	GCG	C|0.798;T|0.202	0.202	strong		0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151207127	C	T	151207127	3	4	23	1	0	0	0	0	1	0	0	0	8931	710	25	2	497	2	LRBA	4	151207127	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3645323	151207127	39947149	1247	17703										
LRBA	987	hgsc.bcm.edu	37	chr4	151793903	151793903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgatgccagaagtttgtagaTaacactgaatgaataaaaat	8	5	0	4	rs72719663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:151793903T>C	ENST00000357115.3	-	18	2413	c.2170A>G	c.(2170-2172)Atc>Gtc	p.I724V	LRBA_ENST00000535741.1_Missense_Mutation_p.I724V|LRBA_ENST00000510413.1_Missense_Mutation_p.I724V|LRBA_ENST00000507224.1_Missense_Mutation_p.I724V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	724						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTTTGTAGATAACACTGAAT	0.279													T|||	48	0.00958466	0.0008	0.0173	5008	,	,		13099	0.0		0.0159	False		,,,				2504	0.0194				p.I724V		Atlas-SNP	.											.	LRBA	253	.	0			c.A2170G						PASS	.	T	VAL/ILE,VAL/ILE	26,4380	31.7+/-61.6	0,26,2177	69	69	69		2170,2170	4.6	1	4	dbSNP_130	69	263,8337	101.2+/-162.5	3,257,4040	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	29,29	3,283,6217	CC,CT,TT		3.0581,0.5901,2.2221	benign,benign	724/2864,724/2864	151793903	289,12717	2203	4300	6503	SO:0001583	missense	987	exon18			TGTAGATAACACT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2170A>G	4.37:g.151793903T>C	ENSP00000349629:p.Ile724Val	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	107	22	0.205607	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	21	0.009615384615384616	0	0.0	8	0.022099447513812154	0	0.0	13	0.017150395778364115	T	9.446	1.089271	0.20390	0.005901	0.030581	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.81	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.311295	0.30667	N	0.009136	T	0.21145	0.0509	N	0.17312	0.475	0.34945	D	0.750677	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.33777	-0.9855	10	0.24483	T	0.36	.	5.4566	0.16594	0.0:0.1452:0.1555:0.6992	.	724;724	P50851;P50851-2	LRBA_HUMAN;.	V	724	ENSP00000446299:I724V;ENSP00000421552:I724V;ENSP00000349629:I724V;ENSP00000422180:I724V	ENSP00000349629:I724V	I	-	1	0	LRBA	152013353	0.735000	0.28153	1.000000	0.80357	0.981000	0.71138	1.086000	0.30853	0.993000	0.38866	0.477000	0.44152	ATC	T|0.983;C|0.017	0.017	strong		0.279	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151793903	T	C	151793903	3	2	23	1	0	0	0	0	1	0	0	0	8931	1406	49	2	6585	2	LRBA	4	151793903	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	586776	151793903	39360373	1248	17704										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154388363	154388363	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttttggtgttcctgcagCgattgagccgttgccgaacg	12	9	0	1	rs78441178	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:154388363C>T	ENST00000409663.3	+	2	177	c.125C>T	c.(124-126)gCg>gTg	p.A42V	KIAA0922_ENST00000440693.1_Splice_Site_p.A42V|KIAA0922_ENST00000409959.3_Splice_Site_p.A42V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	42						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTTCCTGCAGCGATTGAGCCG	0.577													c|||	2	0.000399361	0.0	0.0	5008	,	,		18938	0.0		0.002	False		,,,				2504	0.0				p.A42V		Atlas-SNP	.											.	KIAA0922	214	.	0			c.C125T						PASS	.		VAL/ALA,VAL/ALA	1,1383		0,1,691	198	177	183		125,125	4.2	1	4	dbSNP_131	183	15,3167		0,15,1576	yes	missense-near-splice,missense-near-splice	KIAA0922	NM_001131007.1,NM_015196.3	64,64	0,16,2267	TT,TC,CC		0.4714,0.0723,0.3504	benign,benign	42/1611,42/1610	154388363	16,4550	692	1591	2283	SO:0001630	splice_region_variant	23240	exon2			CTGCAGCGATTGA	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.125-1C>T	4.37:g.154388363C>T		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	137	93	0.678832	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	c	15.31	2.796674	0.50208	7.23E-4	0.004714	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959	T;T;T	0.28255	1.89;1.62;1.9	5.23	4.19	0.49359	.	.	.	.	.	T	0.27798	0.0684	L	0.55481	1.735	0.27301	N	0.957589	B;B	0.32526	0.374;0.257	B;B	0.29942	0.109;0.051	T	0.08827	-1.0703	8	.	.	.	.	10.079	0.42377	0.0:0.8247:0.0:0.1753	.	42;42	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	V	42	ENSP00000386574:A42V;ENSP00000409663:A42V;ENSP00000386787:A42V	.	A	+	2	0	KIAA0922	154607813	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	1.197000	0.32211	2.442000	0.82660	0.550000	0.68814	GCG	.	.	weak		0.577	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	Missense_Mutation	T	154388363	C	T	154388363	5	4	23	1	0	0	0	0	0	0	1	0	8201	782	27	1	131	1	KIAA0922	4	154388363	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2594460	154388363	36765913	1249	17705										
SFRP2	6423	hgsc.bcm.edu	37	chr4	154709854	154709854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggcacagctgcaggttgGcagggatgggcttgcaattg	17	8	0	0	rs386680891|rs4643790	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:154709854G>A	ENST00000274063.4	-	1	418	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	45	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		A -> V (in dbSNP:rs4643790). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCAGGTTGGCAGGGATGGG	0.647													G|||	748	0.149361	0.2784	0.1066	5008	,	,		15766	0.005		0.1879	False		,,,				2504	0.1145				p.A45V		Atlas-SNP	.											SFRP2,NS,carcinoma,-1,1	SFRP2	45	1	0			c.C134T						PASS	.	G	VAL/ALA	1167,3239	379.9+/-323.5	147,873,1183	57	62	60		134	4.6	1	4	dbSNP_111	60	1580,7020	267.1+/-287.1	152,1276,2872	yes	missense	SFRP2	NM_003013.2	64	299,2149,4055	AA,AG,GG		18.3721,26.4866,21.121	possibly-damaging	45/296	154709854	2747,10259	2203	4300	6503	SO:0001583	missense	6423	exon1			AGGTTGGCAGGGA	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.134C>T	4.37:g.154709854G>A	ENSP00000274063:p.Ala45Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	82	78	0.951219	NM_003013	B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	340	0.15567765567765568	150	0.3048780487804878	46	0.1270718232044199	3	0.005244755244755245	141	0.18601583113456466	G	14.96	2.692402	0.48202	0.264866	0.183721	ENSG00000145423	ENST00000274063	T	0.72167	-0.63	4.63	4.63	0.57726	Frizzled domain (5);	0.049068	0.85682	D	0.000000	T	0.00012	0.0000	N	0.25201	0.72	0.09310	P	0.999999385125	B	0.15473	0.013	B	0.22152	0.038	T	0.05178	-1.0901	9	0.25751	T	0.34	.	17.8889	0.88865	0.0:0.0:1.0:0.0	rs4643790;rs17850362;rs4643790	45	Q96HF1	SFRP2_HUMAN	V	45	ENSP00000274063:A45V	ENSP00000274063:A45V	A	-	2	0	SFRP2	154929304	1.000000	0.71417	0.989000	0.46669	0.955000	0.61496	5.407000	0.66363	2.288000	0.76882	0.650000	0.86243	GCC	G|0.806;A|0.194	0.194	strong		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			A	154709854	G	A	154709854	3	1	23	1	0	0	0	0	1	0	0	0	14162	1203	42	2	765	2	SFRP2	4	154709854	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	321491	154709854	36444422	1250	17706										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155241572	155241572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtcatgttttcatttcctGagaggatgctgtatgttact	9	7	2	1	rs11935573	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:155241572G>A	ENST00000357232.4	-	14	3613	c.3614C>T	c.(3613-3615)tCa>tTa	p.S1205L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1205	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> L (in dbSNP:rs11935573).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1205L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCATTTCCTGAGAGGATGCT	0.393													G|||	1317	0.262979	0.0613	0.2997	5008	,	,		22015	0.3552		0.3161	False		,,,				2504	0.3599				p.S1205L		Atlas-SNP	.											DCHS2,NS,carcinoma,0,2	DCHS2	594	2	2	Substitution - Missense(2)	prostate(1)|stomach(1)	c.C3614T						PASS	.	G	LEU/SER	461,3945	219.1+/-236.9	25,411,1767	186	168	174		3614	5.6	1	4	dbSNP_120	174	2792,5808	442.8+/-360.2	457,1878,1965	yes	missense	DCHS2	NM_017639.3	145	482,2289,3732	AA,AG,GG		32.4651,10.463,25.0115	probably-damaging	1205/2917	155241572	3253,9753	2203	4300	6503	SO:0001583	missense	54798	exon14			TTTCCTGAGAGGA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3614C>T	4.37:g.155241572G>A	ENSP00000349768:p.Ser1205Leu	Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	158	31	0.196203	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	597	0.2733516483516483	25	0.0508130081300813	115	0.31767955801104975	210	0.36713286713286714	247	0.3258575197889182	G	24.6	4.548489	0.86127	0.10463	0.324651	ENSG00000197410	ENST00000357232	T	0.43294	0.95	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.455087	0.18369	N	0.143322	T	0.00012	0.0000	M	0.76328	2.33	0.09310	P	1.0	D	0.71674	0.998	P	0.61592	0.891	T	0.26643	-1.0097	9	0.54805	T	0.06	.	14.3837	0.66929	0.0:0.0:0.8522:0.1478	rs11935573;rs52822939;rs61644114;rs11935573	1205	Q6V1P9	PCD23_HUMAN	L	1205	ENSP00000349768:S1205L	ENSP00000349768:S1205L	S	-	2	0	DCHS2	155461022	0.953000	0.32496	1.000000	0.80357	0.965000	0.64279	4.281000	0.58965	2.619000	0.88677	0.467000	0.42956	TCA	G|0.746;A|0.254	0.254	strong		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155241572	G	A	155241572	3	1	23	1	0	0	0	0	1	0	0	0	4288	1294	45	2	5184	2	DCHS2	4	155241572	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	531718	155241572	35912704	1251	17707										
DCHS2	54798	hgsc.bcm.edu	37	chr4	155256177	155256177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaatgacagctgtgagcccAccaccgtcttgagcagagac	10	12	1	4	rs6858157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:155256177A>G	ENST00000357232.4	-	8	1058	c.1059T>C	c.(1057-1059)ggT>ggC	p.G353G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G852G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	353	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G353G(2)|p.G852G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTGAGCCCACCACCGTCTT	0.423													A|||	1746	0.348642	0.3396	0.3242	5008	,	,		19216	0.3899		0.3101	False		,,,				2504	0.3753				p.G852G		Atlas-SNP	.											DCHS2_ENST00000339452,NS,carcinoma,0,3	DCHS2	594	3	3	Substitution - coding silent(3)	prostate(2)|stomach(1)	c.T2556C						scavenged	.	A	,	1460,2946	471.8+/-356.2	258,944,1001	103	105	104		2556,1059	-4.3	0.9	4	dbSNP_116	104	2827,5773	446.7+/-361.3	467,1893,1940	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	725,2837,2941	GG,GA,AA		32.8721,33.1366,32.9617	,	852/1370,353/2917	155256177	4287,8719	2203	4300	6503	SO:0001819	synonymous_variant	54798	exon4			GAGCCCACCACCG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1059T>C	4.37:g.155256177A>G		Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	95	17	0.178947	NM_001142552	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																			A|0.668;G|0.332	0.332	strong		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155256177	A	G	155256177	2	3	23	1	0	0	0	0	0	0	0	1	4288	146	6	2		2	DCHS2	4	155256177	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14605	155256177	35898099	1252	17708										
PLRG1	5356	hgsc.bcm.edu	37	chr4	155459194	155459194	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatgaccggaaagattttgAatgaaacttccatcagggaa	9	6	1	4	rs7668818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:155459194A>T	ENST00000499023.2	-	13	1344	c.1218T>A	c.(1216-1218)atT>atA	p.I406I	PLRG1_ENST00000393905.2_Silent_p.I406I|PLRG1_ENST00000302078.5_Silent_p.I397I	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	406					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AAAGATTTTGAATGAAACTTC	0.303													A|||	1155	0.230631	0.1498	0.1888	5008	,	,		15715	0.1438		0.325	False		,,,				2504	0.362				p.I406I		Atlas-SNP	.											.	PLRG1	43	.	0			c.T1218A						PASS	.	A	,	776,3624	294.7+/-283.3	70,636,1494	42	43	43		1191,1218	4.5	1	4	dbSNP_116	43	2813,5757	430.5+/-356.5	456,1901,1928	no	coding-synonymous,coding-synonymous	PLRG1	NM_001201564.1,NM_002669.3	,	526,2537,3422	TT,TA,AA		32.8238,17.6364,27.6715	,	397/506,406/515	155459194	3589,9381	2200	4285	6485	SO:0001819	synonymous_variant	5356	exon13			ATTTTGAATGAAA	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1218T>A	4.37:g.155459194A>T		Somatic	258	2	0.00775194		WXS	Illumina HiSeq	Phase_I	154	120	0.779221	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	CCDS34083.1																																																																																			A|0.748;T|0.252	0.252	strong		0.303	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		T	155459194	A	T	155459194	2	4	23	1	0	0	0	0	0	0	0	1	12106	242	9	5		5	PLRG1	4	155459194	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	203017	155459194	35695082	1253	17709										
RBM46	166863	hgsc.bcm.edu	37	chr4	155720274	155720274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttggagacagcatcttaaTggtcagattagtccaaattc	8	8	2	2	rs156502	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:155720274T>C	ENST00000281722.3	+	4	1195	c.960T>C	c.(958-960)aaT>aaC	p.N320N	RBM46_ENST00000510397.1_Silent_p.N320N|RBM46_ENST00000514866.1_Silent_p.N320N	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	320							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGCATCTTAATGGTCAGATTA	0.398													C|||	3424	0.683706	0.9213	0.6787	5008	,	,		17912	0.747		0.4155	False		,,,				2504	0.5767				p.N320N		Atlas-SNP	.											.	RBM46	76	.	0			c.T960C						PASS	.	C		3723,683	283.1+/-276.9	1594,535,74	68	71	70		960	3.8	1	4	dbSNP_79	70	3527,5073	630.4+/-398.4	710,2107,1483	no	coding-synonymous	RBM46	NM_144979.3		2304,2642,1557	CC,CT,TT		41.0116,15.5016,44.2565		320/534	155720274	7250,5756	2203	4300	6503	SO:0001819	synonymous_variant	166863	exon4			TCTTAATGGTCAG	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.960T>C	4.37:g.155720274T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	92	24	0.26087	NM_144979	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																			T|0.395;C|0.605	0.605	strong		0.398	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		C	155720274	T	C	155720274	2	2	23	1	0	0	0	0	0	0	0	1	13140	1461	51	2		2	RBM46	4	155720274	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	261080	155720274	35434002	1254	17710										
NPY2R	4887	hgsc.bcm.edu	37	chr4	156135676	156135676	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattcgctgattgagatcatCccggactttgagattgtggc	11	8	1	3	rs1047214	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:156135676C>T	ENST00000329476.3	+	2	1074	c.585C>T	c.(583-585)atC>atT	p.I195I	NPY2R_ENST00000506608.1_Silent_p.I195I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TTGAGATCATCCCGGACTTTG	0.512													T|||	3507	0.70028	0.9395	0.5014	5008	,	,		21126	0.8115		0.5447	False		,,,				2504	0.5634				p.I195I		Atlas-SNP	.											.	NPY2R	87	.	0			c.C585T	GRCh37	CM057405	NPY2R	M	rs1047214	PASS	.	T		3841,565	248.4+/-256.2	1684,473,46	101	102	102		585	-6.2	0.2	4	dbSNP_86	102	4559,4041	556.1+/-386.8	1206,2147,947	no	coding-synonymous	NPY2R	NM_000910.2		2890,2620,993	TT,TC,CC		46.9884,12.8234,35.4144		195/382	156135676	8400,4606	2203	4300	6503	SO:0001819	synonymous_variant	4887	exon2			GATCATCCCGGAC	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.585C>T	4.37:g.156135676C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	99	76	0.767677	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	CCDS3791.1																																																																																			C|0.329;N|0.000	.	strong		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		T	156135676	C	T	156135676	2	4	23	1	0	0	0	0	0	0	0	1	10609	845	30	2		2	NPY2R	4	156135676	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	415402	156135676	35018600	1255	17711										
MAP9	79884	hgsc.bcm.edu	37	chr4	156274377	156274377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattttcttcttcagttttcTtcttgtttttttcttcaagc	3	9	7	0	rs1058992	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:156274377T>C	ENST00000311277.4	-	11	1759	c.1496A>G	c.(1495-1497)aAg>aGg	p.K499R	AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K475R|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	499			K -> R (in dbSNP:rs1058992).		cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.K499R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTCAGTTTTCTTCTTGTTTTT	0.333													T|||	2048	0.408946	0.6104	0.3228	5008	,	,		14025	0.5863		0.2247	False		,,,				2504	0.2045				p.K499R		Atlas-SNP	.											MAP9,NS,carcinoma,0,1	MAP9	79	1	1	Substitution - Missense(1)	prostate(1)	c.A1496G						PASS	.	T	ARG/LYS	2319,2085	603.3+/-390.1	631,1057,514	108	104	106		1496	4.1	1	4	dbSNP_86	106	1857,6739	332.3+/-320.0	193,1471,2634	yes	missense	MAP9	NM_001039580.1	26	824,2528,3148	CC,CT,TT		21.6031,47.3433,32.1231	probably-damaging	499/648	156274377	4176,8824	2202	4298	6500	SO:0001583	missense	79884	exon11			GTTTTCTTCTTGT	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1496A>G	4.37:g.156274377T>C	ENSP00000310593:p.Lys499Arg	Somatic	198	1	0.00505051		WXS	Illumina HiSeq	Phase_I	117	82	0.700855	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	921	0.4217032967032967	307	0.6239837398373984	104	0.287292817679558	329	0.5751748251748252	181	0.23878627968337732	T	10.92	1.487296	0.26686	0.526567	0.216031	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.09445	2.98;2.98	5.23	4.05	0.47172	.	0.402707	0.28700	N	0.014428	T	0.00012	0.0000	M	0.69823	2.125	0.09310	P	0.9999999999743422	B;B;B	0.32203	0.169;0.36;0.169	B;B;B	0.32022	0.091;0.139;0.091	T	0.19321	-1.0309	9	0.19147	T	0.46	-13.891	8.6845	0.34229	0.0:0.0879:0.0:0.9121	rs17357030	474;499;499	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	R	499;475	ENSP00000310593:K499R;ENSP00000427402:K475R	ENSP00000310593:K499R	K	-	2	0	MAP9	156493827	0.914000	0.31030	1.000000	0.80357	0.991000	0.79684	0.012000	0.13287	0.930000	0.37217	0.533000	0.62120	AAG	T|0.652;C|0.348	0.348	strong		0.333	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		C	156274377	T	C	156274377	3	2	23	1	0	0	0	0	1	0	0	0	9270	1609	56	3	463	3	MAP9	4	156274377	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	138701	156274377	34879899	1256	17712										
MAP9	79884	hgsc.bcm.edu	37	chr4	156276289	156276289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgcatttcatgtaaataCacatttttcttttctaacca	3	9	3	0	rs2341894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:156276289C>T	ENST00000311277.4	-	10	1577	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596754.1_RNA|MAP9_ENST00000515654.1_Silent_p.V414V|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000598890.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	438					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CATGTAAATACACATTTTTCT	0.244													T|||	3705	0.739816	0.9546	0.5533	5008	,	,		13242	0.9266		0.5616	False		,,,				2504	0.5726				p.V438V		Atlas-SNP	.											.	MAP9	79	.	0			c.G1314A						PASS	.	T		3899,469		1752,395,37	56	60	59		1314	-10.3	0.1	4	dbSNP_100	59	4588,3938		1248,2092,923	no	coding-synonymous	MAP9	NM_001039580.1		3000,2487,960	TT,TC,CC		46.1881,10.7372,34.1787		438/648	156276289	8487,4407	2184	4263	6447	SO:0001819	synonymous_variant	79884	exon10			TAAATACACATTT	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1314G>A	4.37:g.156276289C>T		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	75	47	0.626667	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	ENST00000311277.4	37	CCDS35493.1																																																																																			C|0.324;T|0.676	0.676	strong		0.244	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		T	156276289	C	T	156276289	2	4	23	1	0	0	0	0	0	0	0	1	9270	465	17	2		2	MAP9	4	156276289	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1912	156276289	34877987	1257	17713										
GUCY1B3	2983	hgsc.bcm.edu	37	chr4	156721198	156721198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagctcacgttaagagccCtggaagatgaaaagaaaaag	10	7	1	4	rs2229202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:156721198C>T	ENST00000264424.8	+	9	1229	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	GUCY1B3_ENST00000503520.1_Silent_p.L383L|GUCY1B3_ENST00000505764.1_Silent_p.L363L|GUCY1B3_ENST00000505154.1_Silent_p.L315L|GUCY1B3_ENST00000507146.1_Silent_p.L315L|GUCY1B3_ENST00000502959.1_Silent_p.L405L|GUCY1B3_ENST00000513437.1_Silent_p.L315L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	383					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTTAAGAGCCCTGGAAGATGA	0.398													C|||	801	0.159944	0.2156	0.111	5008	,	,		19760	0.123		0.1531	False		,,,				2504	0.1646				p.L383L		Atlas-SNP	.											GUCY1B3,NS,carcinoma,0,1	GUCY1B3	65	1	1	Substitution - coding silent(1)	prostate(1)	c.C1147T						PASS	.	C		722,3066		78,566,1250	90	89	90		1147	1	0.9	4	dbSNP_98	90	1241,6983		96,1049,2967	no	coding-synonymous	GUCY1B3	NM_000857.2		174,1615,4217	TT,TC,CC		15.09,19.0602,16.342		383/620	156721198	1963,10049	1894	4112	6006	SO:0001819	synonymous_variant	2983	exon9			AGAGCCCTGGAAG	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1147C>T	4.37:g.156721198C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	47	43	0.914894	NM_000857	B7Z426|Q86WY5	Silent	SNP	ENST00000264424.8	37	CCDS47154.1																																																																																			C|0.851;T|0.149	0.149	strong		0.398	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			T	156721198	C	T	156721198	2	4	23	1	0	0	0	0	0	0	0	1	6895	680	24	2		2	GUCY1B3	4	156721198	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	444909	156721198	34433078	1258	17714										
PPID	5481	hgsc.bcm.edu	37	chr4	159631991	159631991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttggtatttgatgggtctaGttcaagagcctacaaaaaag	10	5	2	2	rs9410	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:159631991G>T	ENST00000307720.3	-	8	1011	c.904C>A	c.(904-906)Cta>Ata	p.L302I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	302	Interaction with HSP90AB1. {ECO:0000250}.		L -> I (in dbSNP:rs9410). {ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GATGGGTCTAGTTCAAGAGCC	0.343													t|||	1319	0.263379	0.3729	0.1412	5008	,	,		19147	0.125		0.2883	False		,,,				2504	0.319				p.L302I		Atlas-SNP	.											.	PPID	22	.	0			c.C904A						PASS	.	C	ILE/LEU	1660,2744	655.0+/-399.8	318,1024,860	120	129	126		904	1.5	1	4	dbSNP_52	126	2585,6015	688.6+/-404.3	378,1829,2093	yes	missense	PPID	NM_005038.2	5	696,2853,2953	TT,TG,GG		30.0581,37.693,32.6438	benign	302/371	159631991	4245,8759	2202	4300	6502	SO:0001583	missense	5481	exon8			GGTCTAGTTCAAG		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.904C>A	4.37:g.159631991G>T	ENSP00000303754:p.Leu302Ile	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	67	48	0.716418	NM_005038	B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	CCDS3801.1	539	0.2467948717948718	189	0.38414634146341464	53	0.1464088397790055	82	0.14335664335664336	215	0.2836411609498681	t	8.045	0.764641	0.15914	0.37693	0.300581	ENSG00000171497	ENST00000307720	T	0.65916	-0.18	5.44	1.47	0.22746	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.361838	0.19645	N	0.109351	T	0.00012	0.0000	L	0.28740	0.885	0.43930	P	0.0034119999999999706	B	0.02656	0.0	B	0.08055	0.003	T	0.39722	-0.9600	9	0.19147	T	0.46	-0.692	9.2507	0.37554	0.0:0.0612:0.3483:0.5905	rs9410;rs1134310;rs3196517;rs7689418;rs17295391;rs17353893;rs17843955;rs52790371;rs58555274;rs7689418	302	Q08752	PPID_HUMAN	I	302	ENSP00000303754:L302I	ENSP00000303754:L302I	L	-	1	2	PPID	159851441	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	1.265000	0.33027	-0.053000	0.13289	-1.061000	0.02294	CTA	G|0.586;T|0.237	0.237	strong		0.343	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		T	159631991	G	T	159631991	3	4	23	1	0	0	0	0	1	0	0	0	12321	1020	36	4	220	4	PPID	4	159631991	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2910793	159631991	31522285	1259	17715										
TKTL2	84076	hgsc.bcm.edu	37	chr4	164393117	164393117	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcactcctgacactgccagTtgatgaacaaggatatcagg	11	10	1	3	rs11735477	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:164393117T>A	ENST00000280605.3	-	1	1930	c.1770A>T	c.(1768-1770)caA>caT	p.Q590H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	590			Q -> H (in dbSNP:rs11735477). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.Q590H(1)		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)				ACACTGCCAGTTGATGAACAA	0.488													T|||	856	0.170927	0.1445	0.0778	5008	,	,		19406	0.2867		0.1909	False		,,,				2504	0.1329				p.Q590H		Atlas-SNP	.											TKTL2,NS,carcinoma,0,1	TKTL2	130	1	1	Substitution - Missense(1)	prostate(1)	c.A1770T						PASS	.	T	HIS/GLN	705,3701	294.1+/-283.0	67,571,1565	95	85	88		1770	-1.2	0.2	4	dbSNP_120	88	1588,7012	296.5+/-302.9	156,1276,2868	yes	missense	TKTL2	NM_032136.4	24	223,1847,4433	AA,AT,TT		18.4651,16.0009,17.6303	benign	590/627	164393117	2293,10713	2203	4300	6503	SO:0001583	missense	84076	exon1			TGCCAGTTGATGA	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.1770A>T	4.37:g.164393117T>A	ENSP00000280605:p.Gln590His	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	137	36	0.262774	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	420	0.19230769230769232	71	0.1443089430894309	32	0.08839779005524862	163	0.28496503496503495	154	0.20316622691292877	T	0.934	-0.711875	0.03206	0.160009	0.184651	ENSG00000151005	ENST00000280605	D	0.90955	-2.76	5.16	-1.18	0.09617	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.302904	0.31082	N	0.008282	T	0.00012	0.0000	N	0.17594	0.5	0.80722	P	0.0	B	0.14012	0.009	B	0.15052	0.012	T	0.05289	-1.0894	9	0.08179	T	0.78	-8.7736	2.0063	0.03478	0.1287:0.2479:0.3786:0.2447	rs11735477;rs17656580;rs52837438;rs11735477	590	Q9H0I9	TKTL2_HUMAN	H	590	ENSP00000280605:Q590H	ENSP00000280605:Q590H	Q	-	3	2	TKTL2	164612567	0.003000	0.15002	0.204000	0.23530	0.935000	0.57460	-0.689000	0.05144	-0.076000	0.12775	-0.137000	0.14449	CAA	A|0.186;N|0.000	0.186	strong		0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393117	T	A	164393117	3	1	23	1	0	0	0	0	1	0	0	0	15933	1722	60	5	114	5	TKTL2	4	164393117	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4761126	164393117	26761159	1260	17716										
C4orf39	152756	hgsc.bcm.edu	37	chr4	165878335	165878335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgctgaccggcggccgccAtggcagtgtctctttgctca	12	14	2	1	rs3733418	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:165878335A>G	ENST00000513876.2	+	1	236	c.161A>G	c.(160-162)cAt>cGt	p.H54R	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	54			H -> R (in dbSNP:rs3733418).														GGCGGCCGCCATGGCAGTGTC	0.617													a|||	1395	0.278554	0.0598	0.1671	5008	,	,		16434	0.6488		0.16	False		,,,				2504	0.3937				p.H54R		Atlas-SNP	.											.	.	.	.	0			c.A161G						PASS	.		,ARG/HIS	348,4058		19,310,1874	25	23	24		,161	-1.1	0	4	dbSNP_107	24	1298,7302		104,1090,3106	yes	intron,missense	C4orf39,TRIM61	NM_001012414.2,NM_153027.1	,29	123,1400,4980	GG,GA,AA		15.093,7.8983,12.6557	,benign	,54/158	165878335	1646,11360	2203	4300	6503	SO:0001583	missense	152756	exon1			GCCGCCATGGCAG	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.161A>G	4.37:g.165878335A>G	ENSP00000427428:p.His54Arg	Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	159	107	0.672956	NM_153027		Missense_Mutation	SNP	ENST00000513876.2	37	CCDS3807.1	540	0.24725274725274726	26	0.052845528455284556	64	0.17679558011049723	332	0.5804195804195804	118	0.15567282321899736	a	2.249	-0.371940	0.05034	0.078983	0.15093	ENSG00000250486	ENST00000513876	T	0.52526	0.66	0.543	-1.09	0.09904	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.20780	0.048	B	0.13407	0.009	T	0.43556	-0.9384	7	0.87932	D	0	.	.	.	.	rs3733418;rs57200258;rs3733418	54	Q96MZ4	CD039_HUMAN	R	54	ENSP00000427428:H54R	ENSP00000427428:H54R	H	+	2	0	C4orf39	166097785	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.703000	0.01900	-1.189000	0.02702	-1.465000	0.01017	CAT	A|0.813;G|0.187	0.187	strong		0.617	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		G	165878335	A	G	165878335	3	3	23	1	0	0	0	0	1	0	0	0	2268	217	8	2	163	2	C4orf39	4	165878335	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1485218	165878335	25275941	1261	17717										
DDX60L	91351	hgsc.bcm.edu	37	chr4	169294859	169294859	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaaatcattatctgtgttCcccgaaagacaaacaaatgg	7	9	2	1	rs13133439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:169294859C>T	ENST00000511577.1	-	35	4981	c.4734G>A	c.(4732-4734)ggG>ggA	p.G1578G	DDX60L_ENST00000260184.7_Silent_p.G1578G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1578							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TATCTGTGTTCCCCGAAAGAC	0.408													C|||	44	0.00878594	0.0008	0.013	5008	,	,		21270	0.0		0.0298	False		,,,				2504	0.0041				p.G1578G		Atlas-SNP	.											DDX60L,NS,carcinoma,-2,1	DDX60L	116	1	0			c.G4734A						PASS	.	C		31,4315	30.8+/-60.4	0,31,2142	266	268	267		4734	-2	0.1	4	dbSNP_121	267	333,8255	111.4+/-171.7	8,317,3969	no	coding-synonymous	DDX60L	NM_001012967.1		8,348,6111	TT,TC,CC		3.8775,0.7133,2.8143		1578/1707	169294859	364,12570	2173	4294	6467	SO:0001819	synonymous_variant	91351	exon35			TGTGTTCCCCGAA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4734G>A	4.37:g.169294859C>T		Somatic	373	0	0		WXS	Illumina HiSeq	Phase_I	210	51	0.242857	NM_001012967	Q96ND6	Silent	SNP	ENST00000511577.1	37																																																																																				C|0.979;T|0.021	0.021	strong		0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169294859	C	T	169294859	2	4	23	1	0	0	0	0	0	0	0	1	4379	842	30	2		2	DDX60L	4	169294859	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3416524	169294859	21859417	1262	17718										
DDX60L	91351	hgsc.bcm.edu	37	chr4	169348435	169348435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttctttgagaaatgacttTttcttactctttttggtaat	5	6	4	2	rs2712120	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:169348435T>C	ENST00000511577.1	-	14	1963	c.1716A>G	c.(1714-1716)aaA>aaG	p.K572K	DDX60L_ENST00000505890.1_Silent_p.K572K|DDX60L_ENST00000260184.7_Silent_p.K572K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	572							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.K572K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAAATGACTTTTTCTTACTCT	0.328													T|||	1035	0.206669	0.5401	0.1441	5008	,	,		19157	0.006		0.1272	False		,,,				2504	0.089				p.K572K		Atlas-SNP	.											DDX60L,NS,carcinoma,0,1	DDX60L	116	1	1	Substitution - coding silent(1)	stomach(1)	c.A1716G						PASS	.	T		1644,1996		393,858,569	121	103	109		1716	-6.5	0	4	dbSNP_100	109	1050,7118		81,888,3115	no	coding-synonymous	DDX60L	NM_001012967.1		474,1746,3684	CC,CT,TT		12.855,45.1648,22.815		572/1707	169348435	2694,9114	1820	4084	5904	SO:0001819	synonymous_variant	91351	exon14			TGACTTTTTCTTA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1716A>G	4.37:g.169348435T>C		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	131	97	0.740458	NM_001012967	Q96ND6	Silent	SNP	ENST00000511577.1	37																																																																																				T|0.783;C|0.217	0.217	strong		0.328	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		C	169348435	T	C	169348435	2	2	23	1	0	0	0	0	0	0	0	1	4379	1838	64	2		2	DDX60L	4	169348435	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	53576	169348435	21805841	1263	17719										
PALLD	23022	hgsc.bcm.edu	37	chr4	169819835	169819835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaatgccagtaactttcacAtgtagagtggctggaaatcc	11	8	1	1	rs113676921	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:169819835A>G	ENST00000505667.1	+	14	2615	c.2442A>G	c.(2440-2442)acA>acG	p.T814T	PALLD_ENST00000512127.1_Silent_p.T415T|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Silent_p.T797T|PALLD_ENST00000507735.1_Silent_p.T310T|PALLD_ENST00000335742.7_Silent_p.T639T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1021	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TAACTTTCACATGTAGAGTGG	0.423									Pancreatic Cancer, Familial Clustering of				A|||	7	0.00139776	0.0	0.0	5008	,	,		19745	0.0		0.007	False		,,,				2504	0.0				p.T814T	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.A2442G						PASS	.	A	,,,	3,4403	6.2+/-15.9	0,3,2200	103	98	100		2442,1245,930,2391	-7	0.9	4	dbSNP_132	100	48,8552	30.7+/-82.3	0,48,4252	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_001166109.1,NM_001166110.1,NM_016081.3	,,,	0,51,6452	GG,GA,AA		0.5581,0.0681,0.3921	,,,	814/1124,415/778,310/673,797/1107	169819835	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon14	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	TTTCACATGTAGA	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2442A>G	4.37:g.169819835A>G		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	70	47	0.671429	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																			A|0.996;G|0.004	0.004	strong		0.423	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		G	169819835	A	G	169819835	2	3	23	1	0	0	0	0	0	0	0	1	11407	204	8	2		2	PALLD	4	169819835	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	471400	169819835	21334441	1264	17720										
SH3RF1	57630	hgsc.bcm.edu	37	chr4	170037572	170037572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgcttggggaagtcagtgGagcagctgctgcacaggcca	16	9	1	0	rs3811813	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:170037572G>A	ENST00000284637.9	-	10	2328	c.1987C>T	c.(1987-1989)Cca>Tca	p.P663S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	663			P -> S (in dbSNP:rs3811813).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GAAGTCAGTGGAGCAGCTGCT	0.622													G|||	462	0.0922524	0.0083	0.062	5008	,	,		19880	0.0813		0.1362	False		,,,				2504	0.1933				p.P663S		Atlas-SNP	.											SH3RF1,NS,carcinoma,+2,1	SH3RF1	60	1	0			c.C1987T						scavenged	.	G	SER/PRO	166,4240	109.1+/-147.4	3,160,2040	61	52	55		1987	1.4	0	4	dbSNP_107	55	1098,7502	228.7+/-263.7	80,938,3282	yes	missense	SH3RF1	NM_020870.3	74	83,1098,5322	AA,AG,GG		12.7674,3.7676,9.7186	benign	663/889	170037572	1264,11742	2203	4300	6503	SO:0001583	missense	57630	exon10			TCAGTGGAGCAGC	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1987C>T	4.37:g.170037572G>A	ENSP00000284637:p.Pro663Ser	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	88	17	0.193182	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	CCDS34099.1	177	0.08104395604395605	5	0.01016260162601626	28	0.07734806629834254	39	0.06818181818181818	105	0.13852242744063326	G	0.259	-1.000945	0.02128	0.037676	0.127674	ENSG00000154447	ENST00000284637	T	0.10960	2.82	5.24	1.38	0.22167	.	0.261100	0.27563	N	0.018810	T	0.00039	0.0001	N	0.00926	-1.1	0.53005	P	3.100000000000325E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.43572	-0.9383	9	0.02654	T	1	-1.1484	5.8399	0.18627	0.7065:0.1407:0.1528:0.0	rs3811813;rs60713833;rs3811813	663	Q7Z6J0	SH3R1_HUMAN	S	663	ENSP00000284637:P663S	ENSP00000284637:P663S	P	-	1	0	SH3RF1	170274147	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.648000	0.54410	0.009000	0.14813	-0.378000	0.06908	CCA	G|0.906;A|0.094	0.094	strong		0.622	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		A	170037572	G	A	170037572	3	1	23	1	0	0	0	0	1	0	0	0	14258	1174	41	2	691	2	SH3RF1	4	170037572	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	217737	170037572	21116704	1265	17721										
NEK1	4750	hgsc.bcm.edu	37	chr4	170398454	170398454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgctttcctttttcatctTcttgagctttaagattttca	4	9	5	2	rs34099167	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:170398454T>C	ENST00000439128.2	-	24	2811	c.2171A>G	c.(2170-2172)gAa>gGa	p.E724G	NEK1_ENST00000512193.1_Missense_Mutation_p.E655G|NEK1_ENST00000507142.1_Missense_Mutation_p.E752G|NEK1_ENST00000510533.1_Missense_Mutation_p.E680G|NEK1_ENST00000511633.1_Missense_Mutation_p.E708G	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	724			E -> G (in dbSNP:rs34099167). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:17974005}.		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)	p.E752G(1)		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)		TTTTTCATCTTCTTGAGCTTT	0.299													T|||	526	0.105032	0.0802	0.085	5008	,	,		17322	0.1825		0.0974	False		,,,				2504	0.0808				p.E752G		Atlas-SNP	.											NEK1,NS,carcinoma,0,1	NEK1	203	1	1	Substitution - Missense(1)	stomach(1)	c.A2255G						PASS	.	T	GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU	271,3353		8,255,1549	63	55	57		2255,2123,1964,2039,2171	5.6	1	4	dbSNP_126	57	928,7218		60,808,3205	yes	missense,missense,missense,missense,missense	NEK1	NM_001199397.1,NM_001199398.1,NM_001199399.1,NM_001199400.1,NM_012224.2	98,98,98,98,98	68,1063,4754	CC,CT,TT		11.3921,7.4779,10.1869	benign,benign,benign,benign,benign	752/1287,708/1243,655/1190,680/1215,724/1259	170398454	1199,10571	1812	4073	5885	SO:0001583	missense	4750	exon26			TCATCTTCTTGAG	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.2171A>G	4.37:g.170398454T>C	ENSP00000408020:p.Glu724Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	86	21	0.244186	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	249	0.11401098901098901	54	0.10975609756097561	28	0.07734806629834254	104	0.18181818181818182	63	0.08311345646437995	T	18.54	3.645851	0.67358	0.074779	0.113921	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.70282	-0.46;-0.45;-0.47;-0.47;-0.45	5.57	5.57	0.84162	.	0.076612	0.56097	D	0.000037	T	0.00440	0.0014	L	0.52364	1.645	0.23649	P	0.99720098	P;D;P;D;P	0.55385	0.915;0.971;0.915;0.971;0.862	P;P;P;P;P	0.57846	0.72;0.828;0.72;0.828;0.529	T	0.06752	-1.0809	9	0.38643	T	0.18	.	13.7635	0.62981	0.0:0.0:0.0:1.0	rs34099167;rs57148876	655;708;752;680;724	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	G	724;708;680;752;655	ENSP00000408020:E724G;ENSP00000423332:E708G;ENSP00000427653:E680G;ENSP00000424757:E752G;ENSP00000424938:E655G	ENSP00000408020:E724G	E	-	2	0	NEK1	170635029	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.786000	0.62425	2.248000	0.74166	0.533000	0.62120	GAA	T|0.885;C|0.115	0.115	strong		0.299	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			C	170398454	T	C	170398454	3	2	23	1	0	0	0	0	1	0	0	0	10321	1783	62	2	1649	2	NEK1	4	170398454	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	360882	170398454	20755822	1266	17722										
NEK1	4750	hgsc.bcm.edu	37	chr4	170428901	170428901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttttgcgcctcatgtcagCctcttcacttccttcttgtc	5	14	5	0	rs33933790	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:170428901C>T	ENST00000439128.2	-	20	2432	c.1792G>A	c.(1792-1794)Gct>Act	p.A598T	NEK1_ENST00000512193.1_Missense_Mutation_p.A529T|NEK1_ENST00000507142.1_Missense_Mutation_p.A626T|NEK1_ENST00000510533.1_Missense_Mutation_p.A554T|NEK1_ENST00000511633.1_Missense_Mutation_p.A582T	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	598			A -> T (in dbSNP:rs33933790). {ECO:0000269|PubMed:17344846}.		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)		CTCATGTCAGCCTCTTCACTT	0.348													C|||	119	0.023762	0.0038	0.0346	5008	,	,		14938	0.0		0.0795	False		,,,				2504	0.0102				p.A626T		Atlas-SNP	.											.	NEK1	203	.	0			c.G1876A						PASS	.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	63,3621		1,61,1780	122	112	115		1876,1744,1585,1660,1792	1.8	1	4	dbSNP_126	115	655,7525		31,593,3466	yes	missense,missense,missense,missense,missense	NEK1	NM_001199397.1,NM_001199398.1,NM_001199399.1,NM_001199400.1,NM_012224.2	58,58,58,58,58	32,654,5246	TT,TC,CC		8.0073,1.7101,6.0519	benign,benign,benign,benign,benign	626/1287,582/1243,529/1190,554/1215,598/1259	170428901	718,11146	1842	4090	5932	SO:0001583	missense	4750	exon22			TGTCAGCCTCTTC	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.1792G>A	4.37:g.170428901C>T	ENSP00000408020:p.Ala598Thr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	77	58	0.753247	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	78	0.03571428571428571	3	0.006097560975609756	10	0.027624309392265192	0	0.0	65	0.08575197889182058	C	15.63	2.889056	0.52014	0.017101	0.080073	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.72282	-0.6;-0.6;-0.53;-0.64;-0.57	5.53	1.79	0.24919	.	0.307929	0.27495	N	0.019103	T	0.04318	0.0119	L	0.39397	1.21	0.38085	D	0.936805	B;B;B;B;B	0.26318	0.146;0.069;0.146;0.069;0.09	B;B;B;B;B	0.31337	0.128;0.056;0.128;0.056;0.06	T	0.06127	-1.0844	10	0.28530	T	0.3	.	7.5477	0.27777	0.1188:0.6787:0.0:0.2025	rs33933790;rs57604515	529;582;626;554;598	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	T	598;582;554;626;529	ENSP00000408020:A598T;ENSP00000423332:A582T;ENSP00000427653:A554T;ENSP00000424757:A626T;ENSP00000424938:A529T	ENSP00000408020:A598T	A	-	1	0	NEK1	170665476	0.151000	0.22747	0.998000	0.56505	0.884000	0.51177	0.194000	0.17135	0.363000	0.24346	0.655000	0.94253	GCT	C|0.961;T|0.039	0.039	strong		0.348	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			T	170428901	C	T	170428901	3	4	23	1	0	0	0	0	1	0	0	0	10321	739	26	2	2044	2	NEK1	4	170428901	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30447	170428901	20725375	1267	17723										
CLCN3	1182	hgsc.bcm.edu	37	chr4	170634390	170634390	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccacaccccaatggagatCgtggtggatattttccgaaa	10	10	0	1	rs1058868	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:170634390C>T	ENST00000513761.1	+	12	2869	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CLCN3_ENST00000360642.3_Silent_p.I743I|CLCN3_ENST00000504131.2_Silent_p.I753I|CLCN3_ENST00000347613.4_Silent_p.I770I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	770	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.I770I(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAATGGAGATCGTGGTGGATA	0.483													T|||	589	0.117612	0.1021	0.098	5008	,	,		19300	0.1766		0.1213	False		,,,				2504	0.0879				p.I770I		Atlas-SNP	.											CLCN3,NS,carcinoma,+1,2	CLCN3	85	2	1	Substitution - coding silent(1)	stomach(1)	c.C2310T						PASS	.	T	,	391,4015	790.6+/-415.0	12,367,1824	111	99	103		2310,2310	-6.9	0.8	4	dbSNP_123	103	1095,7505	769.0+/-407.6	78,939,3283	no	coding-synonymous,coding-synonymous	CLCN3	NM_001829.3,NM_173872.3	,	90,1306,5107	TT,TC,CC		12.7326,8.8743,11.4255	,	770/819,770/867	170634390	1486,11520	2203	4300	6503	SO:0001819	synonymous_variant	1182	exon12			GGAGATCGTGGTG	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2310C>T	4.37:g.170634390C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	146	49	0.335616	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	CCDS34101.1																																																																																			C|0.879;T|0.121	0.121	strong		0.483	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			T	170634390	C	T	170634390	2	4	23	1	0	0	0	0	0	0	0	1	3464	874	31	1		1	CLCN3	4	170634390	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	205489	170634390	20519886	1268	17724										
WDR17	116966	hgsc.bcm.edu	37	chr4	177100644	177100644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttgaagacgggaaatctGctatctccttgaatgatgct	9	9	2	4	rs11736872	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:177100644G>A	ENST00000280190.4	+	31	4039	c.3883G>A	c.(3883-3885)Gct>Act	p.A1295T	WDR17_ENST00000508596.1_Missense_Mutation_p.A1256T|WDR17_ENST00000507824.2_Missense_Mutation_p.A1270T|WDR17_ENST00000393643.2_Missense_Mutation_p.A1271T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1295			A -> T (in dbSNP:rs11736872). {ECO:0000269|PubMed:12401215}.							breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGGGAAATCTGCTATCTCCTT	0.388													G|||	1037	0.207069	0.1369	0.2104	5008	,	,		12251	0.13		0.2783	False		,,,				2504	0.3057				p.A1295T		Atlas-SNP	.											.	WDR17	198	.	0			c.G3883A						PASS	.	G	THR/ALA,THR/ALA	678,3728	285.7+/-278.4	58,562,1583	152	138	143		3883,3766	-0.9	0.3	4	dbSNP_120	143	2558,6042	417.4+/-352.4	365,1828,2107	yes	missense,missense	WDR17	NM_170710.4,NM_181265.3	58,58	423,2390,3690	AA,AG,GG		29.7442,15.3881,24.8808	benign,benign	1295/1323,1256/1284	177100644	3236,9770	2203	4300	6503	SO:0001583	missense	116966	exon31			AAATCTGCTATCT	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3883G>A	4.37:g.177100644G>A	ENSP00000280190:p.Ala1295Thr	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	170	131	0.770588	NM_170710	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	428|428	0.19597069597069597|0.19597069597069597	68|68	0.13821138211382114|0.13821138211382114	85|85	0.23480662983425415|0.23480662983425415	63|63	0.11013986013986014|0.11013986013986014	212|212	0.2796833773087071|0.2796833773087071	G|G	12.85|12.85	2.060188|2.060188	0.36373|0.36373	0.153881|0.153881	0.297442|0.297442	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.58210|.	0.37;0.4;0.35|.	5.51|5.51	-0.869|-0.869	0.10649|0.10649	.|.	0.254658|.	0.38058|.	N|.	0.001838|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.11927|0.11927	0.2|0.2	0.23381|0.23381	P|P	0.99779477|0.99779477	B;B;B|.	0.17038|.	0.02;0.001;0.003|.	B;B;B|.	0.13407|.	0.009;0.006;0.006|.	T|T	0.39354|0.39354	-0.9618|-0.9618	9|4	0.16896|.	T|.	0.51|.	-5.5383|-5.5383	10.6133|10.6133	0.45434|0.45434	0.3901:0.0:0.6099:0.0|0.3901:0.0:0.6099:0.0	rs11736872;rs17671753;rs52832800;rs60810877;rs11736872|rs11736872;rs17671753;rs52832800;rs60810877;rs11736872	1271;1256;1295|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	T|Y	1256;1271;1295;1271|529	ENSP00000422763:A1256T;ENSP00000377258:A1271T;ENSP00000280190:A1295T|.	ENSP00000280190:A1295T|.	A|C	+|+	1|2	0|0	WDR17|WDR17	177337638|177337638	0.202000|0.202000	0.23423|0.23423	0.315000|0.315000	0.25238|0.25238	0.997000|0.997000	0.91878|0.91878	0.596000|0.596000	0.24044|0.24044	-0.180000|-0.180000	0.10637|0.10637	0.655000|0.655000	0.94253|0.94253	GCT|TGC	G|0.774;A|0.226	0.226	strong		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			A	177100644	G	A	177100644	3	1	23	1	0	0	0	0	1	0	0	0	17274	1319	46	2	4001	2	WDR17	4	177100644	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6466254	177100644	14053632	1269	17725										
VEGFC	7424	hgsc.bcm.edu	37	chr4	177713326	177713326	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacgcagacctaccgtggccTcgcccgcgtcgggctccgcg	13	18	0	1	rs55728985	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:177713326T>A	ENST00000280193.2	-	1	555	c.140A>T	c.(139-141)gAg>gTg	p.E47V		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	47					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TACCGTGGCCTCGCCCGCGTC	0.716													T|||	7	0.00139776	0.0	0.0043	5008	,	,		9648	0.0		0.004	False		,,,				2504	0.0				p.E47V		Atlas-SNP	.											VEGFC,NS,carcinoma,-1,1	VEGFC	94	1	0			c.A140T						PASS	.	T	VAL/GLU	1,3751		0,1,1875	18	22	21		140	3.1	1	4	dbSNP_129	21	43,8131		0,43,4044	yes	missense	VEGFC	NM_005429.2	121	0,44,5919	AA,AT,TT		0.5261,0.0267,0.3689	benign	47/421	177713326	44,11882	1876	4087	5963	SO:0001583	missense	7424	exon1			GTGGCCTCGCCCG	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.140A>T	4.37:g.177713326T>A	ENSP00000280193:p.Glu47Val	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	15	4	0.266667	NM_005429	B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330343	0.60743	2.67E-4	0.005261	ENSG00000150630	ENST00000280193	.	.	.	4.3	3.13	0.36017	.	0.089559	0.43110	D	0.000613	T	0.44829	0.1312	L	0.57536	1.79	0.38259	D	0.941825	D	0.59357	0.985	P	0.50270	0.636	T	0.57590	-0.7785	9	0.72032	D	0.01	-12.749	6.7656	0.23564	0.0:0.1111:0.0:0.8889	rs55728985;rs62617087	47	P49767	VEGFC_HUMAN	V	47	.	ENSP00000280193:E47V	E	-	2	0	VEGFC	177950320	0.986000	0.35501	0.998000	0.56505	0.332000	0.28634	1.525000	0.35953	1.577000	0.49804	0.254000	0.18369	GAG	T|0.996;A|0.004	0.004	strong		0.716	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		A	177713326	T	A	177713326	3	1	23	1	0	0	0	0	1	0	0	0	17149	1551	54	5	1150	5	VEGFC	4	177713326	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	612682	177713326	13440950	1270	17726										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183549831	183549831	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctattcaaaacaggaacaggTacaacgccactgttcagtac	7	11	2	0	rs74199039	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:183549831T>G	ENST00000511685.1	+	5	900	c.777T>G	c.(775-777)ggT>ggG	p.G259G	TENM3_ENST00000406950.2_Silent_p.G259G|RN7SKP67_ENST00000515905.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	259	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGGAACAGGTACAACGCCAC	0.423													G|||	424	0.0846645	0.0166	0.0677	5008	,	,		18152	0.1359		0.0785	False		,,,				2504	0.1421				p.G259G		Atlas-SNP	.											.	.	.	.	0			c.T777G						PASS	.	G		103,3855		3,97,1879	45	43	44		777	3.5	1	4	dbSNP_130	44	651,7683		27,597,3543	no	coding-synonymous	ODZ3	NM_001080477.1		30,694,5422	GG,GT,TT		7.8114,2.6023,6.1341		259/2700	183549831	754,11538	1979	4167	6146	SO:0001819	synonymous_variant	55714	exon4			AACAGGTACAACG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.777T>G	4.37:g.183549831T>G		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	130	91	0.7	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			T|0.912;G|0.088	0.088	strong		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			G	183549831	T	G	183549831	2	3	23	1	0	0	0	0	0	0	0	1	10836	1625	57	5		5	ODZ3	4	183549831	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5836505	183549831	7604445	1271	17727										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183713573	183713573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactaccgcaacatatacaaCcccccggaaagcaacgcctc	5	17	0	0	rs80197208	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:183713573C>T	ENST00000511685.1	+	26	5871	c.5748C>T	c.(5746-5748)aaC>aaT	p.N1916N	TENM3_ENST00000406950.2_Silent_p.N1916N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1916					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E1919fs*37(1)									ACATATACAACCCCCCGGAAA	0.532													C|||	22	0.00439297	0.0	0.0058	5008	,	,		18775	0.0		0.0179	False		,,,				2504	0.0				p.N1916N		Atlas-SNP	.											.	.	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.C5748T						PASS	.	C		13,4031		0,13,2009	70	73	72		5748	3.3	1	4	dbSNP_131	72	165,8175		1,163,4006	no	coding-synonymous	ODZ3	NM_001080477.1		1,176,6015	TT,TC,CC		1.9784,0.3215,1.4373		1916/2700	183713573	178,12206	2022	4170	6192	SO:0001819	synonymous_variant	55714	exon25			ATACAACCCCCCG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5748C>T	4.37:g.183713573C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	104	25	0.240385	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			C|0.987;T|0.013	0.013	strong		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183713573	C	T	183713573	2	4	23	1	0	0	0	0	0	0	0	1	10836	506	18	2		2	ODZ3	4	183713573	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	163742	183713573	7440703	1272	17728										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183721088	183721088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgagagcgacctgggcacgCtgcggttgaccagcggccgc	16	15	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:183721088C>T	ENST00000511685.1	+	28	7807	c.7684C>T	c.(7684-7686)Ctg>Ttg	p.L2562L	TENM3_ENST00000406950.2_Silent_p.L2562L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2562					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTGGGCACGCTGCGGTTGAC	0.632																																					p.L2562L		Atlas-SNP	.											.	.	.	.	0			c.C7684T						PASS	.						23	30	28					4																	183721088		2175	4263	6438	SO:0001819	synonymous_variant	55714	exon27			GGCACGCTGCGGT	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7684C>T	4.37:g.183721088C>T		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	101	5	0.049505	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			.	.	none		0.632	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183721088	C	T	183721088	2	4	23	1	0	0	0	0	0	0	0	1	10836	796	28	2		2	ODZ3	4	183721088	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7515	183721088	7433188	1273	17729										
WWC2	80014	hgsc.bcm.edu	37	chr4	184192231	184192231	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgttttctttcacttacatAggctggaactcagatcagcc	7	10	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:184192231A>G	ENST00000403733.3	+	16	2599		c.e16-1		WWC2_ENST00000513834.1_Splice_Site|WWC2_ENST00000448232.2_Splice_Site|WWC2_ENST00000504005.1_Splice_Site	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCACTTACATAGGCTGGAACT	0.318																																					.		Atlas-SNP	.											WWC2,NS,carcinoma,0,1	WWC2	78	1	0			c.2401-2A>G						scavenged	.						30	29	29					4																	184192231		2203	4296	6499	SO:0001630	splice_region_variant	80014	exon16			TTACATAGGCTGG	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2401-1A>G	4.37:g.184192231A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	68	3	0.0441176	NM_024949	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Splice_Site	SNP	ENST00000403733.3	37	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681262	0.68042	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4782	0.75501	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC2	184429225	1.000000	0.71417	0.938000	0.37757	0.976000	0.68499	7.743000	0.85020	2.237000	0.73441	0.460000	0.39030	.	.	.	none		0.318	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	Intron	G	184192231	A	G	184192231	5	3	23	1	0	0	0	0	0	0	1	0	17409	434	15	3	2461	3	WWC2	4	184192231	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	471143	184192231	6962045	1274	17730										
CLDN22	53842	hgsc.bcm.edu	37	chr4	184240981	184240981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacgggaaccagggctgtgaCtcccgaggcccaggacagaa	15	12	0	2	rs144080557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:184240981C>T	ENST00000323319.5	-	1	946	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	131					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGCTGTGACTCCCGAGGCC	0.567													c|||	30	0.00599042	0.0204	0.0014	5008	,	,		17954	0.0		0.002	False		,,,				2504	0.0				p.V131I		Atlas-SNP	.											CLDN22,NS,carcinoma,+2,1	CLDN22	20	1	0			c.G391A						scavenged	.	C	ILE/VAL,	42,3094		1,40,1527	48	49	48		391,	-9.4	0	4	dbSNP_134	48	3,7161		0,3,3579	no	missense,utr-3	CLDN22,WWC2	NM_001111319.1,NM_024949.5	29,	1,43,5106	TT,TC,CC		0.0419,1.3393,0.4369	benign,	131/221,	184240981	45,10255	1568	3582	5150	SO:0001583	missense	53842	exon1			CTGTGACTCCCGA	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"Claudins"	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.391G>A	4.37:g.184240981C>T	ENSP00000318113:p.Val131Ile	Somatic	366	3	0.00819672		WXS	Illumina HiSeq	Phase_I	216	157	0.726852	NM_001111319		Missense_Mutation	SNP	ENST00000323319.5	37	CCDS43286.1	18	0.008241758241758242	12	0.024390243902439025	0	0.0	0	0.0	6	0.0079155672823219	c	0.081	-1.182846	0.01620	0.013393	4.19E-4	ENSG00000177300	ENST00000323319	D	0.88741	-2.42	6.13	-9.4	0.00616	.	0.687646	0.15048	N	0.283443	T	0.57272	0.2042	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49943	-0.8885	10	0.15952	T	0.53	.	16.7447	0.85469	0.0:0.7209:0.0816:0.1975	.	131	Q8N7P3	CLD22_HUMAN	I	131	ENSP00000318113:V131I	ENSP00000318113:V131I	V	-	1	0	CLDN22	184477975	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.549000	0.02182	-1.907000	0.01087	-0.292000	0.09595	GTC	C|0.992;T|0.008	0.008	strong		0.567	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			T	184240981	C	T	184240981	3	4	23	1	0	0	0	0	1	0	0	0	3483	565	20	2	275	2	CLDN22	4	184240981	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	48750	184240981	6913295	1275	17731										
C4orf41	60684	hgsc.bcm.edu	37	chr4	184600571	184600571	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcagttccgaaaacacatCgacttgtgtaagaaaaagat	8	8	1	2	rs62357990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:184600571C>A	ENST00000334690.6	+	9	1099	c.897C>A	c.(895-897)atC>atA	p.I299I	TRAPPC11_ENST00000357207.4_Silent_p.I299I	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	299					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAAAACACATCGACTTGTGTA	0.363													C|||	310	0.061901	0.056	0.0389	5008	,	,		17834	0.1319		0.0537	False		,,,				2504	0.0225				p.I299I		Atlas-SNP	.											.	.	.	.	0			c.C897A						PASS	.	C	,	232,4174	138.8+/-174.5	8,216,1979	92	93	93		897,897	-9	0.1	4	dbSNP_129	93	573,8027	154.2+/-208.4	22,529,3749	no	coding-synonymous,coding-synonymous	C4orf41	NM_021942.4,NM_199053.1	,	30,745,5728	AA,AC,CC		6.6628,5.2655,6.1895	,	299/1134,299/1087	184600571	805,12201	2203	4300	6503	SO:0001819	synonymous_variant	60684	exon9			ACACATCGACTTG		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.897C>A	4.37:g.184600571C>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	57	8	0.140351	NM_021942	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																			C|0.939;A|0.061	0.061	strong		0.363	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		A	184600571	C	A	184600571	2	1	23	1	0	0	0	0	0	0	0	1	2270	874	31	4		4	C4orf41	4	184600571	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	359590	184600571	6553705	1276	17732										
IRF2	3660	hgsc.bcm.edu	37	chr4	185310218	185310218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttccgccagtgtggccgCccctttcaagaaagtaatta	8	13	2	1	rs1131553	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:185310218C>T	ENST00000393593.3	-	9	951	c.744G>A	c.(742-744)ggG>ggA	p.G248G		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	248					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGTGTGGCCGCCCCTTTCAAG	0.498													C|||	2119	0.423123	0.3548	0.5245	5008	,	,		20139	0.4216		0.3598	False		,,,				2504	0.5102				p.G248G		Atlas-SNP	.											IRF2,NS,carcinoma,0,1	IRF2	53	1	1	Substitution - coding silent(1)	stomach(1)	c.G744A						PASS	.	C		1525,2881	483.3+/-359.7	262,1001,940	129	111	117		744	-4	0.9	4	dbSNP_107	117	3376,5224	500.1+/-375.1	677,2022,1601	no	coding-synonymous	IRF2	NM_002199.3		939,3023,2541	TT,TC,CC		39.2558,34.6119,37.6826		248/350	185310218	4901,8105	2203	4300	6503	SO:0001819	synonymous_variant	3660	exon9			TGGCCGCCCCTTT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.744G>A	4.37:g.185310218C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	104	84	0.807692	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	CCDS3835.1	869	0.39789377289377287	184	0.37398373983739835	192	0.5303867403314917	211	0.3688811188811189	282	0.3720316622691293	C	4.681	0.126624	0.08931	0.346119	0.392558	ENSG00000168310	ENST00000505067	.	.	.	5.31	-4.03	0.04021	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999610463	.	.	.	.	.	.	T	0.48151	-0.9060	3	.	.	.	.	1.1333	0.01749	0.3733:0.1003:0.2741:0.2523	rs3775543;rs17417214;rs3775543	.	.	.	T	182	.	.	A	-	1	0	IRF2	185547212	0.073000	0.21202	0.901000	0.35422	0.846000	0.48090	-1.266000	0.02842	-0.699000	0.05077	-0.324000	0.08512	GCG	C|0.617;T|0.383	0.383	strong		0.498	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			T	185310218	C	T	185310218	2	4	23	1	0	0	0	0	0	0	0	1	7828	726	26	2		2	IRF2	4	185310218	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	709647	185310218	5844058	1277	17733										
ACSL1	2180	hgsc.bcm.edu	37	chr4	185687863	185687863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttctttcctcttggaggcAaagtccaagagccatcgctt	9	12	2	1	rs11727009	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:185687863A>G	ENST00000515030.1	-	13	1501	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F	ACSL1_ENST00000504342.1_Silent_p.F392F|ACSL1_ENST00000513317.1_Silent_p.F392F|ACSL1_ENST00000507295.1_Silent_p.F358F|ACSL1_ENST00000454703.2_Silent_p.F221F|ACSL1_ENST00000437665.3_Silent_p.F221F|ACSL1_ENST00000281455.2_Silent_p.F392F			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	392					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTTGGAGGCAAAGTCCAAGA	0.498													A|||	1076	0.214856	0.2073	0.2277	5008	,	,		20599	0.2153		0.2366	False		,,,				2504	0.1933				p.F392F		Atlas-SNP	.											.	ACSL1	77	.	0			c.T1176C						PASS	.	A		985,3421	368.6+/-318.7	112,761,1330	116	109	112		1176	-1.6	1	4	dbSNP_120	112	2018,6582	352.5+/-328.7	226,1566,2508	no	coding-synonymous	ACSL1	NM_001995.2		338,2327,3838	GG,GA,AA		23.4651,22.3559,23.0893		392/699	185687863	3003,10003	2203	4300	6503	SO:0001819	synonymous_variant	2180	exon13			GGAGGCAAAGTCC	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1176T>C	4.37:g.185687863A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	59	46	0.779661	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1																																																																																			A|0.768;G|0.232	0.232	strong		0.498	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		G	185687863	A	G	185687863	2	3	23	1	0	0	0	0	0	0	0	1	177	127	5	2		2	ACSL1	4	185687863	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	377645	185687863	5466413	1278	17734										
CCDC110	256309	hgsc.bcm.edu	37	chr4	186380243	186380243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaagacactctttgctgtAttcttctgttttacttaact	4	8	3	1	rs59319722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186380243A>C	ENST00000307588.3	-	6	1573	c.1498T>G	c.(1498-1500)Tac>Gac	p.Y500D	CCDC110_ENST00000510617.1_Missense_Mutation_p.Y500D|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.Y463D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	500			Y -> D (in dbSNP:rs59319722).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTTTGCTGTATTCTTCTGTT	0.274													C|||	1927	0.384784	0.2784	0.3631	5008	,	,		16317	0.2857		0.5378	False		,,,				2504	0.4888				p.Y500D		Atlas-SNP	.											.	CCDC110	78	.	0			c.T1498G						PASS	.	C	ASP/TYR,ASP/TYR	1438,2954		230,978,988	27	28	28		1387,1498	4.2	0.1	4	dbSNP_129	28	4818,3740		1364,2090,825	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	160,160	1594,3068,1813	CC,CA,AA		43.7018,32.7413,48.3089	benign,benign	463/797,500/834	186380243	6256,6694	2196	4279	6475	SO:0001583	missense	256309	exon6			TGCTGTATTCTTC	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1498T>G	4.37:g.186380243A>C	ENSP00000306776:p.Tyr500Asp	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	41	8	0.195122	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	856	0.39194139194139194	148	0.3008130081300813	147	0.40607734806629836	161	0.28146853146853146	400	0.5277044854881267	C	0	-2.653368	0.00109	0.327413	0.562982	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.04406	3.63;3.65;3.65	5.96	4.25	0.50352	.	0.427611	0.22036	N	0.065525	T	0.00012	0.0000	N	0.00368	-1.59	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39057	-0.9632	9	0.02654	T	1	-2.8884	7.4078	0.27001	0.1356:0.7252:0.0:0.1391	rs59319722;rs62345630	500;463;500	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	463;500;500	ENSP00000377172:Y463D;ENSP00000306776:Y500D;ENSP00000427246:Y500D	ENSP00000306776:Y500D	Y	-	1	0	CCDC110	186617237	0.987000	0.35691	0.075000	0.20258	0.106000	0.19336	2.024000	0.41049	0.446000	0.26666	-0.121000	0.15023	TAC	A|0.548;C|0.452	0.452	strong		0.274	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		C	186380243	A	C	186380243	3	2	23	1	0	0	0	0	1	0	0	0	2747	449	16	5	1011	5	CCDC110	4	186380243	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	692380	186380243	4774033	1279	17735			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186380295	186380295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtactcttttcttcaaccagAttcttaagttgcttttcata	4	9	5	1	rs36007437	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186380295A>G	ENST00000307588.3	-	6	1521	c.1446T>C	c.(1444-1446)aaT>aaC	p.N482N	CCDC110_ENST00000510617.1_Silent_p.N482N|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Silent_p.N445N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	482						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTTCAACCAGATTCTTAAGTT	0.279													A|||	1477	0.294928	0.1536	0.3213	5008	,	,		17558	0.2808		0.4374	False		,,,				2504	0.3354				p.N482N		Atlas-SNP	.											.	CCDC110	78	.	0			c.T1446C						PASS	.	A	,	924,3482		103,718,1382	41	42	42		1335,1446	-1.8	0	4	dbSNP_126	42	4240,4320		1091,2058,1131	no	coding-synonymous,coding-synonymous	CCDC110	NM_001145411.1,NM_152775.3	,	1194,2776,2513	GG,GA,AA		49.5327,20.9714,39.8272	,	445/797,482/834	186380295	5164,7802	2203	4280	6483	SO:0001819	synonymous_variant	256309	exon6			AACCAGATTCTTA	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1446T>C	4.37:g.186380295A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_152775	Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	CCDS3843.1																																																																																			A|0.623;G|0.377	0.377	strong		0.279	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		G	186380295	A	G	186380295	2	3	23	1	0	0	0	0	0	0	0	1	2747	330	12	2		2	CCDC110	4	186380295	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	52	186380295	4773981	1280	17736			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186380515	186380515	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaagttttctcattttcaGatattattgatccttgtttt	6	5	2	2	rs11132306	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186380515G>A	ENST00000307588.3	-	6	1301	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	CCDC110_ENST00000510617.1_Missense_Mutation_p.S409F|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.S372F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	409			S -> F (in dbSNP:rs11132306).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTCATTTTCAGATATTATTGA	0.343													A|||	1925	0.384385	0.2784	0.3631	5008	,	,		17341	0.2837		0.5378	False		,,,				2504	0.4888				p.S409F		Atlas-SNP	.											.	CCDC110	78	.	0			c.C1226T						PASS	.	A	PHE/SER,PHE/SER	1456,2950	679.6+/-403.7	229,998,976	120	119	119		1115,1226	0.5	0.1	4	dbSNP_120	119	4851,3745	532.4+/-382.2	1369,2113,816	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	155,155	1598,3111,1792	AA,AG,GG		43.5668,33.0458,48.5079	benign,benign	372/797,409/834	186380515	6307,6695	2203	4298	6501	SO:0001583	missense	256309	exon6			TTTTCAGATATTA	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1226C>T	4.37:g.186380515G>A	ENSP00000306776:p.Ser409Phe	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	70	7	0.1	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	855	0.3914835164835165	148	0.3008130081300813	147	0.40607734806629836	160	0.27972027972027974	400	0.5277044854881267	A	0.001	-3.126688	0.00031	0.330458	0.564332	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.06449	3.3;3.3;3.31	5.81	0.54	0.17163	.	1.009930	0.07947	N	0.980197	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37150	-0.9718	9	0.08837	T	0.75	0.2386	3.5186	0.07734	0.4227:0.0:0.2103:0.367	rs11132306;rs52793635;rs61201878;rs11132306	409;372;409	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	F	372;409;409	ENSP00000377172:S372F;ENSP00000306776:S409F;ENSP00000427246:S409F	ENSP00000306776:S409F	S	-	2	0	CCDC110	186617509	0.000000	0.05858	0.070000	0.20053	0.085000	0.17905	-0.922000	0.04004	-0.122000	0.11766	-0.254000	0.11334	TCT	G|0.562;A|0.438	0.438	strong		0.343	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186380515	G	A	186380515	3	1	23	1	0	0	0	0	1	0	0	0	2747	942	33	2	1283	2	CCDC110	4	186380515	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	220	186380515	4773761	1281	17737			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186380846	186380846	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatttaagttaccgtccaAgttttcttccttaataaagt	4	8	2	0	rs7698680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186380846A>T	ENST00000307588.3	-	6	970	c.895T>A	c.(895-897)Ttg>Atg	p.L299M	CCDC110_ENST00000510617.1_Missense_Mutation_p.L299M|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.L262M	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	299			L -> M (in dbSNP:rs7698680).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTACCGTCCAAGTTTTCTTCC	0.338													T|||	1931	0.385583	0.2837	0.3631	5008	,	,		18589	0.2827		0.5378	False		,,,				2504	0.4888				p.L299M		Atlas-SNP	.											CCDC110,NS,carcinoma,0,1	CCDC110	78	1	0			c.T895A						PASS	.	T	MET/LEU,MET/LEU	1477,2927	660.9+/-400.8	242,993,967	70	71	71		784,895	2	0.2	4	dbSNP_116	71	4852,3744	523.4+/-380.3	1373,2106,819	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	15,15	1615,3099,1786	TT,TA,AA		43.5551,33.5377,48.6846	benign,benign	262/797,299/834	186380846	6329,6671	2202	4298	6500	SO:0001583	missense	256309	exon6			CGTCCAAGTTTTC	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.895T>A	4.37:g.186380846A>T	ENSP00000306776:p.Leu299Met	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	74	16	0.216216	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	857	0.3923992673992674	151	0.30691056910569103	147	0.40607734806629836	159	0.27797202797202797	400	0.5277044854881267	T	0.001	-3.256225	0.00021	0.335377	0.564449	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.06068	3.35;3.36;3.37	5.8	2.03	0.26663	.	0.991008	0.08207	N	0.981349	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42682	-0.9437	9	0.02654	T	1	-0.03	3.8067	0.08780	0.2471:0.2772:0.0:0.4757	rs7698680;rs17224991;rs52809202;rs59414924;rs7698680	299;262;299	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	M	262;299;299	ENSP00000377172:L262M;ENSP00000306776:L299M;ENSP00000427246:L299M	ENSP00000306776:L299M	L	-	1	2	CCDC110	186617840	0.000000	0.05858	0.183000	0.23137	0.020000	0.10135	-0.753000	0.04792	0.139000	0.18822	-1.071000	0.02255	TTG	A|0.555;T|0.445	0.445	strong		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		T	186380846	A	T	186380846	3	4	23	1	0	0	0	0	1	0	0	0	2747	69	3	5	1614	5	CCDC110	4	186380846	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	331	186380846	4773430	1282	17738			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186381115	186381115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcttgagacatcacatttGgaggtgcagtaggtagaaaa	12	6	1	2	rs7699687	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186381115G>T	ENST00000307588.3	-	6	701	c.626C>A	c.(625-627)cCa>cAa	p.P209Q	CCDC110_ENST00000510617.1_Missense_Mutation_p.P209Q|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Missense_Mutation_p.P172Q	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	209			P -> Q (in dbSNP:rs7699687).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CATCACATTTGGAGGTGCAGT	0.318													T|||	1931	0.385583	0.2837	0.3631	5008	,	,		20802	0.2827		0.5378	False		,,,				2504	0.4888				p.P209Q		Atlas-SNP	.											.	CCDC110	78	.	0			c.C626A						PASS	.	T	GLN/PRO,GLN/PRO	1456,2944	638.7+/-397.0	242,972,986	49	49	49		515,626	1.8	0	4	dbSNP_116	49	4848,3752	521.1+/-379.8	1370,2108,822	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	76,76	1612,3080,1808	TT,TG,GG		43.6279,33.0909,48.4923	benign,benign	172/797,209/834	186381115	6304,6696	2200	4300	6500	SO:0001583	missense	256309	exon6			ACATTTGGAGGTG	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.626C>A	4.37:g.186381115G>T	ENSP00000306776:p.Pro209Gln	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	80	15	0.1875	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	857	0.3923992673992674	151	0.30691056910569103	147	0.40607734806629836	159	0.27797202797202797	400	0.5277044854881267	T	0	-2.589066	0.00128	0.330909	0.563721	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	T;T;T;T	0.33654	3.7;3.62;3.62;1.4	5.8	1.82	0.25136	.	0.491396	0.18891	N	0.128315	T	0.00012	0.0000	N	0.00128	-2.045	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47249	-0.9132	9	0.02654	T	1	-1.5854	8.3569	0.32335	0.1266:0.0:0.3965:0.4769	rs7699687;rs17303666;rs60542216;rs7699687	209;172;209	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Q	172;209;209;229	ENSP00000377172:P172Q;ENSP00000306776:P209Q;ENSP00000427246:P209Q;ENSP00000425276:P229Q	ENSP00000306776:P209Q	P	-	2	0	CCDC110	186618109	0.168000	0.22989	0.003000	0.11579	0.439000	0.31926	1.049000	0.30392	-0.137000	0.11455	-0.264000	0.10439	CCA	G|0.564;T|0.436	0.436	strong		0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		T	186381115	G	T	186381115	3	4	23	1	0	0	0	0	1	0	0	0	2747	1348	47	4	1883	4	CCDC110	4	186381115	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	269	186381115	4773161	1283	17739			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186381165	186381165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttattataattcttcaagatGtcagaattttctgaagggtg	8	4	4	3	rs7699724	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186381165G>A	ENST00000307588.3	-	6	651	c.576C>T	c.(574-576)gaC>gaT	p.D192D	CCDC110_ENST00000510617.1_Silent_p.D192D|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Silent_p.D155D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	192						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTTCAAGATGTCAGAATTTT	0.333													G|||	1931	0.385583	0.2837	0.3631	5008	,	,		19213	0.2827		0.5378	False		,,,				2504	0.4888				p.D192D		Atlas-SNP	.											.	CCDC110	78	.	0			c.C576T						PASS	.	G	,	1460,2942	428.7+/-342.0	241,978,982	64	64	64		465,576	-0.6	0	4	dbSNP_116	64	4849,3745	598.8+/-394.0	1374,2101,822	no	coding-synonymous,coding-synonymous	CCDC110	NM_001145411.1,NM_152775.3	,	1615,3079,1804	AA,AG,GG		43.5769,33.1667,48.5457	,	155/797,192/834	186381165	6309,6687	2201	4297	6498	SO:0001819	synonymous_variant	256309	exon6			CAAGATGTCAGAA	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.576C>T	4.37:g.186381165G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	109	26	0.238532	NM_152775	Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	CCDS3843.1																																																																																			G|0.547;A|0.453	0.453	strong		0.333	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186381165	G	A	186381165	2	1	23	1	0	0	0	0	0	0	0	1	2747	1368	48	2		2	CCDC110	4	186381165	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	50	186381165	4773111	1284	17740			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
CCDC110	256309	hgsc.bcm.edu	37	chr4	186382206	186382206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgtagaataacataccaaAtccttttcaatgcgcgtgcc	6	11	2	1	rs11132309	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:186382206A>G	ENST00000307588.3	-	5	420	c.345T>C	c.(343-345)gaT>gaC	p.D115D	CCDC110_ENST00000510617.1_Silent_p.D115D|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	115						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AACATACCAAATCCTTTTCAA	0.343													A|||	1924	0.384185	0.2784	0.3631	5008	,	,		15974	0.2827		0.5388	False		,,,				2504	0.4877				p.D115D		Atlas-SNP	.											.	CCDC110	78	.	0			c.T345C						PASS	.	A	,	1440,2964	458.0+/-351.8	240,960,1002	122	117	119		,345	4.5	1	4	dbSNP_120	119	4832,3764	607.4+/-395.2	1375,2082,841	no	intron,coding-synonymous	CCDC110	NM_001145411.1,NM_152775.3	,	1615,3042,1843	GG,GA,AA		43.7878,32.6975,48.2462	,	,115/834	186382206	6272,6728	2202	4298	6500	SO:0001819	synonymous_variant	256309	exon5			TACCAAATCCTTT	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.345T>C	4.37:g.186382206A>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	96	16	0.166667	NM_152775	Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	CCDS3843.1																																																																																			A|0.557;G|0.443	0.443	strong		0.343	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		G	186382206	A	G	186382206	2	3	23	1	0	0	0	0	0	0	0	1	2747	98	4	2		2	CCDC110	4	186382206	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1041	186382206	4772070	1285	17741			6	75	182885345	7	7	1964	N	G_A	8.364641e-07
FAM149A	25854	hgsc.bcm.edu	37	chr4	187078745	187078745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaacagagagaaacattgAaagtggctggaaacagattt	10	4	0	4	rs113168248	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:187078745A>G	ENST00000356371.5	+	8	1474	c.1474A>G	c.(1474-1476)Aaa>Gaa	p.K492E	FAM149A_ENST00000389354.5_Missense_Mutation_p.K201E|FAM149A_ENST00000514153.1_Missense_Mutation_p.K201E|FAM149A_ENST00000502970.1_Missense_Mutation_p.K201E|FAM149A_ENST00000503432.1_Missense_Mutation_p.K201E|FAM149A_ENST00000227065.4_Missense_Mutation_p.K201E|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	492										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGAAACATTGAAAGTGGCTGG	0.468													A|||	11	0.00219649	0.0008	0.0043	5008	,	,		20772	0.0		0.007	False		,,,				2504	0.0				p.K201E		Atlas-SNP	.											.	FAM149A	52	.	0			c.A601G						PASS	.	A	GLU/LYS,GLU/LYS	6,4400	11.4+/-27.6	0,6,2197	70	80	77		601,601	3.5	0.1	4	dbSNP_132	77	62,8538	37.8+/-93.5	0,62,4238	yes	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	56,56	0,68,6435	GG,GA,AA		0.7209,0.1362,0.5228	benign,benign	201/483,201/483	187078745	68,12938	2203	4300	6503	SO:0001583	missense	25854	exon7			ACATTGAAAGTGG	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1474A>G	4.37:g.187078745A>G	ENSP00000348732:p.Lys492Glu	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	38	5	0.131579	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	A	8.161	0.789539	0.16258	0.001362	0.007209	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13420	2.68;2.59;2.68;2.68;2.68;2.68	5.97	3.47	0.39725	.	0.209202	0.42821	D	0.000654	T	0.08403	0.0209	L	0.53729	1.69	0.09310	N	1	P;B;P	0.42692	0.525;0.217;0.787	B;B;B	0.40199	0.182;0.089;0.322	T	0.13602	-1.0503	10	0.22706	T	0.39	-18.2705	6.3912	0.21587	0.7847:0.0:0.0763:0.139	.	492;492;201	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	E	201;492;201;201;201;201	ENSP00000426835:K201E;ENSP00000348732:K492E;ENSP00000227065:K201E;ENSP00000427155:K201E;ENSP00000424380:K201E;ENSP00000374005:K201E	ENSP00000227065:K201E	K	+	1	0	FAM149A	187315739	0.986000	0.35501	0.050000	0.19076	0.009000	0.06853	3.318000	0.51975	1.056000	0.40484	0.524000	0.50904	AAA	A|0.995;G|0.005	0.005	strong		0.468	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		G	187078745	A	G	187078745	3	3	23	1	0	0	0	0	1	0	0	0	5455	247	9	2	619	2	FAM149A	4	187078745	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	696539	187078745	4075531	1286	17742										
FAM149A	25854	hgsc.bcm.edu	37	chr4	187088399	187088399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctcacacatggacagGtcaaagtattttgacaggtc	10	9	2	1	rs111681837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:187088399G>T	ENST00000356371.5	+	13	2231	c.2231G>T	c.(2230-2232)gGt>gTt	p.G744V	FAM149A_ENST00000389354.5_Missense_Mutation_p.G453V|FAM149A_ENST00000514153.1_Missense_Mutation_p.G453V|FAM149A_ENST00000502970.1_Missense_Mutation_p.G453V|FAM149A_ENST00000503432.1_Missense_Mutation_p.G453V|FAM149A_ENST00000227065.4_Missense_Mutation_p.G453V			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	744										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ACATGGACAGGTCAAAGTATT	0.373													G|||	8	0.00159744	0.0008	0.0014	5008	,	,		20278	0.0		0.006	False		,,,				2504	0.0				p.G453V		Atlas-SNP	.											.	FAM149A	52	.	0			c.G1358T						PASS	.	G	VAL/GLY,VAL/GLY	7,4399	12.9+/-30.5	0,7,2196	126	128	128		1358,1358	4.8	1	4	dbSNP_132	128	58,8542	35.9+/-90.5	0,58,4242	yes	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	109,109	0,65,6438	TT,TG,GG		0.6744,0.1589,0.4998	probably-damaging,probably-damaging	453/483,453/483	187088399	65,12941	2203	4300	6503	SO:0001583	missense	25854	exon12			GGACAGGTCAAAG	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2231G>T	4.37:g.187088399G>T	ENSP00000348732:p.Gly744Val	Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	165	48	0.290909	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		6|6|6	0.0027472527472527475|0.0027472527472527475|0.0027472527472527475	0|0|0	0.0|0.0|0.0	1|1|1	0.0027624309392265192|0.0027624309392265192|0.0027624309392265192	0|0|0	0.0|0.0|0.0	5|5|5	0.006596306068601583|0.006596306068601583|0.006596306068601583	G|G|G	20.2|20.2|20.2	3.945034|3.945034|3.945034	0.73672|0.73672|0.73672	0.001589|0.001589|0.001589	0.006744|0.006744|0.006744	ENSG00000109794|ENSG00000109794|ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354|ENST00000512271|ENST00000510843;ENST00000502894	T;T;T;T;T;T|.|.	0.15372|.|.	2.56;2.43;2.56;2.56;2.56;2.56|.|.	5.62|5.62|5.62	4.77|4.77|4.77	0.60923|0.60923|0.60923	.|.|.	0.309873|.|.	0.32518|.|.	N|.|.	0.005996|.|.	T|T|T	0.64360|0.64360|0.64360	0.2591|0.2591|0.2591	M|M|M	0.65975|0.65975|0.65975	2.015|2.015|2.015	0.52501|0.52501|0.52501	D|D|D	0.999951|0.999951|0.999951	D;D|.|.	0.76494|.|.	0.999;0.999|.|.	D;D|.|.	0.74023|.|.	0.982;0.961|.|.	T|T|T	0.67356|0.67356|0.67356	-0.5691|-0.5691|-0.5691	10|5|5	0.87932|.|.	D|.|.	0|.|.	-13.1821|-13.1821|-13.1821	13.7969|13.7969|13.7969	0.63177|0.63177|0.63177	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.|.	743;744|.|.	A5PLN7-3;A5PLN7|.|.	.;F149A_HUMAN|.|.	V|S|F	453;744;453;453;453;453|129|131;14	ENSP00000426835:G453V;ENSP00000348732:G744V;ENSP00000227065:G453V;ENSP00000427155:G453V;ENSP00000424380:G453V;ENSP00000374005:G453V|.|.	ENSP00000227065:G453V|.|.	G|R|V	+|+|+	2|3|1	0|2|0	FAM149A|FAM149A|FAM149A	187325393|187325393|187325393	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	4.047000|4.047000|4.047000	0.57383|0.57383|0.57383	2.652000|2.652000|2.652000	0.90054|0.90054|0.90054	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GGT|AGG|GTC	G|0.995;T|0.005	0.005	strong		0.373	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		T	187088399	G	T	187088399	3	4	23	1	0	0	0	0	1	0	0	0	5455	1261	44	4	1396	4	FAM149A	4	187088399	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9654	187088399	4065877	1287	17743										
MTNR1A	4543	hgsc.bcm.edu	37	chr4	187455329	187455329	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtggaaaaccaccacggcGatggtgtaggcggagctgac	15	9	0	1	rs8192549	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:187455329G>A	ENST00000307161.5	-	2	768	c.567C>T	c.(565-567)atC>atT	p.I189I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	189					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCACCACGGCGATGGTGTAGG	0.577													G|||	48	0.00958466	0.0015	0.0101	5008	,	,		20839	0.001		0.0298	False		,,,				2504	0.0082				p.I189I		Atlas-SNP	.											.	MTNR1A	46	.	0			c.C567T						PASS	.	G		29,4377	36.0+/-67.5	0,29,2174	136	131	133		567	-9.9	0	4	dbSNP_117	133	312,8288	111.0+/-171.3	3,306,3991	no	coding-synonymous	MTNR1A	NM_005958.3		3,335,6165	AA,AG,GG		3.6279,0.6582,2.6219		189/351	187455329	341,12665	2203	4300	6503	SO:0001819	synonymous_variant	4543	exon2			CACGGCGATGGTG		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.567C>T	4.37:g.187455329G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_005958	A0AVC5|B0M0L2	Silent	SNP	ENST00000307161.5	37	CCDS3848.1																																																																																			G|0.977;A|0.023	0.023	strong		0.577	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			A	187455329	G	A	187455329	2	1	23	1	0	0	0	0	0	0	0	1	9951	1048	37	1		1	MTNR1A	4	187455329	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	366930	187455329	3698947	1288	17744										
TRIML1	339976	hgsc.bcm.edu	37	chr4	189060900	189060900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggaggaccttggagggccCgcatttccagtcaaacgagc	13	12	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:189060900C>T	ENST00000332517.3	+	1	328	c.188C>T	c.(187-189)cCg>cTg	p.P63L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P63L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTGGAGGGCCCGCATTTCCAG	0.607																																					p.P63L	Melanoma(31;213 1036 16579 23968 32372)	Atlas-SNP	.											TRIML1,NS,carcinoma,0,1	TRIML1	126	1	1	Substitution - Missense(1)	endometrium(1)	c.C188T						scavenged	.						88	92	91					4																	189060900		2203	4300	6503	SO:0001583	missense	339976	exon1			AGGGCCCGCATTT	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.188C>T	4.37:g.189060900C>T	ENSP00000327738:p.Pro63Leu	Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	134	2	0.0149254	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307240	0.23821	.	.	ENSG00000184108	ENST00000332517	D	0.83419	-1.72	5.59	4.71	0.59529	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.51477	D	0.000091	T	0.75774	0.3895	M	0.62723	1.935	0.09310	N	0.999993	P	0.43750	0.816	B	0.32465	0.146	T	0.70894	-0.4748	10	0.30078	T	0.28	-14.5188	12.0642	0.53578	0.0:0.7057:0.2943:0.0	.	63	Q8N9V2	TRIML_HUMAN	L	63	ENSP00000327738:P63L	ENSP00000327738:P63L	P	+	2	0	TRIML1	189297894	0.001000	0.12720	0.028000	0.17463	0.002000	0.02628	1.472000	0.35376	2.804000	0.96469	0.655000	0.94253	CCG	.	.	none		0.607	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189060900	C	T	189060900	3	4	23	1	0	0	0	0	1	0	0	0	16547	652	23	1	190	1	TRIML1	4	189060900	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1605571	189060900	2093376	1289	17745										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873335	190873335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaatctggtggacagtaaCaaactttggtgaaatttcag	11	5	2	1	rs191989708		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:190873335C>T	ENST00000226798.4	+	3	374	c.152C>T	c.(151-153)aCa>aTa	p.T51I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	51					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T51I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACAGTAACAAACTTTGGT	0.318																																					p.T51I		Atlas-SNP	.											FRG1,trunk,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.C152T						scavenged	.						75	88	84					4																	190873335		2201	4292	6493	SO:0001583	missense	2483	exon3			CAGTAACAAACTT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.152C>T	4.37:g.190873335C>T	ENSP00000226798:p.Thr51Ile	Somatic	154	6	0.038961		WXS	Illumina HiSeq	Phase_I	132	14	0.106061	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	10.16	1.274422	0.23307	.	.	ENSG00000109536	ENST00000226798	T	0.31510	1.49	3.47	3.47	0.39725	.	0.513050	0.23249	N	0.050263	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.26969	0.075	T	0.13176	-1.0519	10	0.48119	T	0.1	-12.4703	8.4161	0.32672	0.2332:0.7668:0.0:0.0	.	51	Q14331	FRG1_HUMAN	I	51	ENSP00000226798:T51I	ENSP00000226798:T51I	T	+	2	0	FRG1	191110329	0.290000	0.24343	0.875000	0.34327	0.947000	0.59692	1.089000	0.30890	2.238000	0.73509	0.539000	0.68188	ACA	.	.	weak		0.318	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190873335	C	T	190873335	3	4	23	1	0	0	0	0	1	0	0	0	6046	478	17	2	162	2	FRG1	4	190873335	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1812435	190873335	280941	1290	17746										
FRG1	2483	hgsc.bcm.edu	37	chr4	190883051	190883051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaaattcttaaaaaggctcGgaaagatggatttttgcatg	9	4	1	1	rs1803593		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAAGGCTCGGAAAGATGGA	0.328																																					p.R235Q		Atlas-SNP	.											FRG1,NS,carcinoid-endocrine_tumour,0,1	FRG1	76	1	0			c.G704A						scavenged	.						81	99	93					4																	190883051		2158	4213	6371	SO:0001583	missense	2483	exon8			AGGCTCGGAAAGA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln	Somatic	241	40	0.165975		WXS	Illumina HiSeq	Phase_I	169	45	0.266272	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG	G|1.000;|0.000	.	weak		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883051	G	A	190883051	3	1	23	1	0	0	0	0	1	0	0	0	6046	1116	39	1	734	1	FRG1	4	190883051	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9716	190883051	271225	1291	17747										
CEP72	55722	hgsc.bcm.edu	37	chr5	637637	637637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctctatatctcagactccAtggataccgaggactcggcc	8	14	2	1	rs62000999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:637637A>G	ENST00000264935.5	+	7	1000	c.910A>G	c.(910-912)Atg>Gtg	p.M304V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	304					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CTCAGACTCCATGGATACCGA	0.527													G|||	22	0.00439297	0.0008	0.0043	5008	,	,		20995	0.0		0.0169	False		,,,				2504	0.001				p.M304V		Atlas-SNP	.											.	CEP72	53	.	0			c.A910G						PASS	.	G	VAL/MET	8,4398	822.5+/-416.5	0,8,2195	64	69	67		910	-9.5	0	5	dbSNP_129	67	180,8420	810.6+/-407.1	1,178,4121	yes	missense	CEP72	NM_018140.3	21	1,186,6316	GG,GA,AA		2.093,0.1816,1.4455	benign	304/648	637637	188,12818	2203	4300	6503	SO:0001583	missense	55722	exon7			GACTCCATGGATA	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.910A>G	5.37:g.637637A>G	ENSP00000264935:p.Met304Val	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	193	91	0.471503	NM_018140	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	13	0.005952380952380952	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	G	0.015	-1.560185	0.00910	0.001816	0.02093	ENSG00000112877	ENST00000264935	T	0.06768	3.26	4.76	-9.52	0.00578	.	2.230810	0.01420	N	0.014329	T	0.01029	0.0034	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.02654	T	1	0.5272	10.8012	0.46489	0.691:0.1782:0.1307:0.0	rs62000999	304	Q9P209	CEP72_HUMAN	V	304	ENSP00000264935:M304V	ENSP00000264935:M304V	M	+	1	0	CEP72	690637	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.554000	0.00926	-2.567000	0.00470	-1.050000	0.02344	ATG	A|0.989;G|0.011	0.011	strong		0.527	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		G	637637	A	G	637637	3	3	23	1	0	0	0	0	1	0	0	0	3260	217	8	2	936	2	CEP72	5	637637	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10		637637	180277623	1292	17748										
TPPP	11076	hgsc.bcm.edu	37	chr5	678087	678087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccgattccagcgacagcCtcttggctgcccggtccttc	9	18	1	0	rs570878136	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:678087C>T	ENST00000360578.5	-	2	210	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	30	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R30K(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGCGACAGCCTCTTGGCTGC	0.677													C|||	15	0.00299521	0.0061	0.0	5008	,	,		16462	0.0069		0.0	False		,,,				2504	0.0				p.R30K		Atlas-SNP	.											TPPP,NS,carcinoma,0,1	TPPP	24	1	1	Substitution - Missense(1)	prostate(1)	c.G89A						scavenged	.						14	17	16					5																	678087		2199	4295	6494	SO:0001583	missense	11076	exon2			GACAGCCTCTTGG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.89G>A	5.37:g.678087C>T	ENSP00000353785:p.Arg30Lys	Somatic	352	0	0		WXS	Illumina HiSeq	Phase_I	303	14	0.0462046	NM_007030		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605282	0.46423	.	.	ENSG00000171368	ENST00000360578	T	0.45276	0.9	5.23	5.23	0.72850	.	0.149935	0.44902	D	0.000407	T	0.29588	0.0738	L	0.29908	0.895	0.44635	D	0.997618	B	0.15141	0.012	B	0.13407	0.009	T	0.11867	-1.0570	10	0.05436	T	0.98	-54.1656	16.5545	0.84482	0.0:1.0:0.0:0.0	.	30	O94811	TPPP_HUMAN	K	30	ENSP00000353785:R30K	ENSP00000353785:R30K	R	-	2	0	TPPP	731087	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	4.081000	0.57627	2.437000	0.82529	0.491000	0.48974	AGG	.	.	none		0.677	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678087	C	T	678087	3	4	23	1	0	0	0	0	1	0	0	0	16410	681	24	2	582	2	TPPP	5	678087	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40450	678087	180237173	1293	17749										
ZDHHC11	79844	hgsc.bcm.edu	37	chr5	843815	843815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagcatgccagctgtggcCgaggccacagtgctgaagaa	14	11	0	3	rs71591190	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:843815C>T	ENST00000283441.8	-	4	911	c.528G>A	c.(526-528)tcG>tcA	p.S176S	ZDHHC11_ENST00000424784.2_Silent_p.S176S|ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000503758.2_5'Flank	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	176						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGCTGTGGCCGAGGCCACAG	0.667																																					p.S176S		Atlas-SNP	.											ZDHHC11_ENST00000424784,rectum,carcinoma,0,2	ZDHHC11	97	2	0			c.G528A						scavenged	.						27	22	23					5																	843815		2199	4276	6475	SO:0001819	synonymous_variant	79844	exon4			TGTGGCCGAGGCC	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.528G>A	5.37:g.843815C>T		Somatic	487	3	0.00616016		WXS	Illumina HiSeq	Phase_I	451	136	0.301552	NM_024786	Q6UWR9	Silent	SNP	ENST00000283441.8	37	CCDS3857.1																																																																																			C|0.856;T|0.144	0.144	strong		0.667	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	843815	C	T	843815	2	4	23	1	0	0	0	0	0	0	0	1	17598	639	23	1		1	ZDHHC11	5	843815	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	165728	843815	180071445	1294	17750										
SLC6A18	348932	hgsc.bcm.edu	37	chr5	1225676	1225676	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaacaaggcccagtacctCctgagctgcactgggtttgc	11	13	0	1	rs33978774	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:1225676C>T	ENST00000324642.3	+	1	207	c.84C>T	c.(82-84)ctC>ctT	p.L28L	SLC6A18_ENST00000296821.4_Silent_p.L28L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	28					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGTACCTCCTGAGCTGCA	0.637													C|||	323	0.0644968	0.0076	0.0749	5008	,	,		18277	0.001		0.16	False		,,,				2504	0.1012				p.L28L		Atlas-SNP	.											.	SLC6A18	84	.	0			c.C84T						PASS	.	C		130,4276	93.4+/-132.2	1,128,2074	118	101	107		84	-7.7	0.8	5	dbSNP_126	107	1463,7137	276.8+/-292.5	137,1189,2974	no	coding-synonymous	SLC6A18	NM_182632.2		138,1317,5048	TT,TC,CC		17.0116,2.9505,12.2482		28/629	1225676	1593,11413	2203	4300	6503	SO:0001819	synonymous_variant	348932	exon1			GTACCTCCTGAGC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.84C>T	5.37:g.1225676C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	114	61	0.535088	NM_182632		Silent	SNP	ENST00000324642.3	37	CCDS3860.1																																																																																			C|0.893;T|0.107	0.107	strong		0.637	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		T	1225676	C	T	1225676	2	4	23	1	0	0	0	0	0	0	0	1	14681	842	30	2		2	SLC6A18	5	1225676	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	381861	1225676	179689584	1295	17751										
NSUN2	54888	hgsc.bcm.edu	37	chr5	6604787	6604787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacaccagactttgatcccCgtgttaataacctgtaagta	6	11	0	2	rs13181449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:6604787C>T	ENST00000264670.6	-	16	2060	c.1749G>A	c.(1747-1749)acG>acA	p.T583T	NSUN2_ENST00000506139.1_Silent_p.T548T|NSUN2_ENST00000539938.1_Silent_p.T347T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	583					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTTTGATCCCCGTGTTAATAA	0.453													C|||	1112	0.222045	0.0371	0.1427	5008	,	,		19971	0.4623		0.1899	False		,,,				2504	0.3139				p.T583T		Atlas-SNP	.											.	NSUN2	82	.	0			c.G1749A						PASS	.	C	,	255,4151	145.0+/-179.8	8,239,1956	81	83	83		1644,1749	-10.7	0	5	dbSNP_121	83	1753,6847	316.6+/-312.8	186,1381,2733	yes	coding-synonymous,coding-synonymous	NSUN2	NM_001193455.1,NM_017755.5	,	194,1620,4689	TT,TC,CC		20.3837,5.7876,15.439	,	548/733,583/768	6604787	2008,10998	2203	4300	6503	SO:0001819	synonymous_variant	54888	exon16			GATCCCCGTGTTA	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1749G>A	5.37:g.6604787C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.819;T|0.181	0.181	strong		0.453	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6604787	C	T	6604787	2	4	23	1	0	0	0	0	0	0	0	1	10678	639	23	1		1	NSUN2	5	6604787	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5379111	6604787	174310473	1296	17752										
PAPD7	11044	hgsc.bcm.edu	37	chr5	6753013	6753013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttactatacctccaccgaccCtaggggttgctcctgttcct	7	15	0	0	rs28381429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:6753013C>T	ENST00000230859.6	+	12	1426	c.1297C>T	c.(1297-1299)Cta>Tta	p.L433L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	663	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCACCGACCCTAGGGGTTGC	0.532													C|||	74	0.0147764	0.0	0.0159	5008	,	,		17117	0.0		0.0288	False		,,,				2504	0.0348				p.L433L	NSCLC(7;212 333 5667 23379 46547)	Atlas-SNP	.											.	PAPD7	69	.	0			c.C1297T						PASS	.	C	,,	25,4381	32.6+/-62.9	0,25,2178	103	97	99		1297,757,1297	2.2	1	5	dbSNP_125	99	247,8353	97.0+/-158.7	3,241,4056	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	3,266,6234	TT,TC,CC		2.8721,0.5674,2.0913	,,	433/542,253/363,433/543	6753013	272,12734	2203	4300	6503	SO:0001819	synonymous_variant	11044	exon12			CCGACCCTAGGGG	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1297C>T	5.37:g.6753013C>T		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	210	89	0.42381	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	CCDS3871.1																																																																																			C|0.979;T|0.021	0.021	strong		0.532	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		T	6753013	C	T	6753013	2	4	23	1	0	0	0	0	0	0	0	1	11426	680	24	2		2	PAPD7	5	6753013	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	148226	6753013	174162247	1297	17753										
MTRR	4552	hgsc.bcm.edu	37	chr5	7878192	7878192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatcctcgaggacagacctTgtgaagtcagagctgctaca	11	11	1	3	rs161870	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:7878192T>C	ENST00000264668.2	+	5	648	c.618T>C	c.(616-618)ctT>ctC	p.L206L	MTRR_ENST00000440940.2_Silent_p.L179L|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	206	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGACAGACCTTGTGAAGTCAG	0.488													T|||	1267	0.252995	0.4357	0.3516	5008	,	,		18108	0.1696		0.1352	False		,,,				2504	0.1431				p.L206L		Atlas-SNP	.											.	MTRR	74	.	0			c.T618C						PASS	.	T	,	1664,2742	507.6+/-366.7	325,1014,864	76	72	73		537,618	-10.9	0	5	dbSNP_79	73	1018,7582	218.8+/-257.1	63,892,3345	no	coding-synonymous,coding-synonymous	MTRR	NM_002454.2,NM_024010.2	,	388,1906,4209	CC,CT,TT		11.8372,37.7667,20.6213	,	179/699,206/726	7878192	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	4552	exon5			AGACCTTGTGAAG	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.618T>C	5.37:g.7878192T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_024010	O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	CCDS3874.1	502	0.22985347985347984	193	0.39227642276422764	111	0.30662983425414364	104	0.18181818181818182	94	0.12401055408970976	T	5.580	0.291749	0.10567	0.377667	0.118372	ENSG00000124275	ENST00000514220	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.31971	-0.9924	3	.	.	.	-2.7714	2.5133	0.04662	0.1817:0.3704:0.1485:0.2994	rs161870;rs2128264;rs60733639	.	.	.	R	108	.	.	C	+	1	0	MTRR	7931192	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.799000	0.00363	-2.045000	0.00910	-0.327000	0.08410	TGT	T|0.784;C|0.216	0.216	strong		0.488	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			C	7878192	T	C	7878192	2	2	23	1	0	0	0	0	0	0	0	1	9961	1799	63	2		2	MTRR	5	7878192	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1125179	7878192	173037068	1298	17754										
MTRR	4552	hgsc.bcm.edu	37	chr5	7885959	7885959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaataaaggcagacacaaAgaagaaaggtaacagccctg	10	7	0	3	rs162036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:7885959A>G	ENST00000264668.2	+	7	1160	c.1130A>G	c.(1129-1131)aAg>aGg	p.K377R	MTRR_ENST00000440940.2_Missense_Mutation_p.K350R|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	377	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		K -> R (in dbSNP:rs162036).		cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GCAGACACAAAGAAGAAAGGT	0.493													A|||	1268	0.253195	0.4365	0.3516	5008	,	,		16390	0.1687		0.1362	False		,,,				2504	0.1431				p.K377R		Atlas-SNP	.											.	MTRR	74	.	0			c.A1130G						PASS	.	A	ARG/LYS,ARG/LYS	1662,2744	504.4+/-365.8	324,1014,865	85	85	85		1049,1130	-2.2	0.1	5	dbSNP_79	85	1019,7581	218.0+/-256.5	63,893,3344	yes	missense,missense	MTRR	NM_002454.2,NM_024010.2	26,26	387,1907,4209	GG,GA,AA		11.8488,37.7213,20.6136	benign,benign	350/699,377/726	7885959	2681,10325	2203	4300	6503	SO:0001583	missense	4552	exon7			ACACAAAGAAGAA	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1130A>G	5.37:g.7885959A>G	ENSP00000264668:p.Lys377Arg	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	159	157	0.987421	NM_024010	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	504	0.23076923076923078	194	0.3943089430894309	111	0.30662983425414364	103	0.18006993006993008	96	0.1266490765171504	A	11.42	1.634585	0.29068	0.377213	0.118488	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.32515	1.45;1.45	5.83	-2.24	0.06909	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.374649	0.32753	N	0.005698	T	0.00012	0.0000	M	0.67700	2.07	0.19775	P	0.9999567659	B	0.30482	0.281	B	0.32022	0.139	T	0.43097	-0.9412	9	0.25106	T	0.35	-7.9558	11.3763	0.49730	0.6606:0.0:0.3394:0.0	rs162036;rs327619;rs329836;rs696311;rs1189017;rs16879313;rs52821116;rs61092918;rs162036	377	Q9UBK8	MTRR_HUMAN	R	377;350	ENSP00000264668:K377R;ENSP00000402510:K350R	ENSP00000264668:K377R	K	+	2	0	MTRR	7938959	0.995000	0.38212	0.055000	0.19348	0.522000	0.34438	1.230000	0.32612	-0.619000	0.05648	-0.263000	0.10527	AAG	A|0.774;G|0.226	0.226	strong		0.493	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			G	7885959	A	G	7885959	3	3	23	1	0	0	0	0	1	0	0	0	9961	72	3	3	1156	3	MTRR	5	7885959	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7767	7885959	173029301	1299	17755										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9108333	9108333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccccgcattgggctgtgcaCcgttcccaaggaccccagcc	10	19	0	0	rs34874986	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:9108333C>T	ENST00000382496.5	-	16	2657	c.1992G>A	c.(1990-1992)cgG>cgA	p.R664R		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	664	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGCTGTGCACCGTTCCCAAG	0.522													C|||	923	0.184305	0.208	0.1513	5008	,	,		20825	0.3333		0.0557	False		,,,				2504	0.1544				p.R664R		Atlas-SNP	.											SEMA5A,NS,carcinoma,-2,1	SEMA5A	236	1	0			c.G1992A						PASS	.	C		891,3515	344.9+/-308.3	98,695,1410	79	71	73		1992	1.9	1	5	dbSNP_126	73	420,8180	131.0+/-188.9	7,406,3887	no	coding-synonymous	SEMA5A	NM_003966.2		105,1101,5297	TT,TC,CC		4.8837,20.2224,10.08		664/1075	9108333	1311,11695	2203	4300	6503	SO:0001819	synonymous_variant	9037	exon16			TGTGCACCGTTCC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1992G>A	5.37:g.9108333C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	211	105	0.49763	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			C|0.879;T|0.121	0.121	strong		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9108333	C	T	9108333	2	4	23	1	0	0	0	0	0	0	0	1	14037	494	18	2		2	SEMA5A	5	9108333	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1222374	9108333	171806927	1300	17756										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9190404	9190404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaaatagatgatgtggacGagcgcttctctgccctgcac	11	12	1	2	rs1806095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:9190404G>A	ENST00000382496.5	-	11	1913	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	416	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGATGTGGACGAGCGCTTCTC	0.512													G|||	1416	0.282748	0.3116	0.2305	5008	,	,		17846	0.4395		0.1372	False		,,,				2504	0.2689				p.L416L		Atlas-SNP	.											.	SEMA5A	236	.	0			c.C1248T						PASS	.	G		1281,3125	434.9+/-344.1	188,905,1110	76	66	70		1248	-10.6	0	5	dbSNP_92	70	1017,7583	217.3+/-256.0	56,905,3339	no	coding-synonymous	SEMA5A	NM_003966.2		244,1810,4449	AA,AG,GG		11.8256,29.074,17.6688		416/1075	9190404	2298,10708	2203	4300	6503	SO:0001819	synonymous_variant	9037	exon11			GTGGACGAGCGCT	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1248C>T	5.37:g.9190404G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	102	44	0.431373	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			G|0.771;A|0.229	0.229	strong		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9190404	G	A	9190404	2	1	23	1	0	0	0	0	0	0	0	1	14037	1045	37	1		1	SEMA5A	5	9190404	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	82071	9190404	171724856	1301	17757										
TRIO	7204	hgsc.bcm.edu	37	chr5	14304588	14304588	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtatatgagcaacgtggatTcatggtgtaaagcttgcggt	13	5	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:14304588T>G	ENST00000344204.4	+	8	1411	c.1387T>G	c.(1387-1389)Tca>Gca	p.S463A	TRIO_ENST00000537187.1_Missense_Mutation_p.S463A|TRIO_ENST00000509967.2_Missense_Mutation_p.S414A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	463					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAACGTGGATTCATGGTGTAA	0.373																																					p.S463A		Atlas-SNP	.											.	TRIO	305	.	0			c.T1387G						PASS	.						177	160	166					5																	14304588		2203	4300	6503	SO:0001583	missense	7204	exon8			GTGGATTCATGGT	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1387T>G	5.37:g.14304588T>G	ENSP00000339299:p.Ser463Ala	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	168	81	0.482143	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816676	0.32145	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.65178	-0.14;-0.11;0.53	5.18	5.18	0.71444	.	0.080894	0.56097	D	0.000034	T	0.43366	0.1244	N	0.12831	0.26	0.48135	D	0.999591	B;B;B	0.22983	0.0;0.078;0.004	B;B;B	0.27380	0.002;0.079;0.001	T	0.35351	-0.9792	10	0.08599	T	0.76	.	15.0541	0.71897	0.0:0.0:0.0:1.0	.	414;463;463	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	463;463;414;150	ENSP00000339299:S463A;ENSP00000446348:S463A;ENSP00000445592:S414A	ENSP00000339299:S463A	S	+	1	0	TRIO	14357588	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.719000	0.47244	1.966000	0.57179	0.528000	0.53228	TCA	.	.	none		0.373	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14304588	T	G	14304588	3	3	23	1	0	0	0	0	1	0	0	0	16549	1783	62	5	1417	5	TRIO	5	14304588	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5114184	14304588	166610672	1302	17758										
FBXL7	23194	hgsc.bcm.edu	37	chr5	15936591	15936591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacctgcatcagcttgaccCgggaggcctccattaaactg	10	13	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:15936591C>T	ENST00000504595.1	+	4	1253	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R211W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R246W|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R258W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCTTGACCCGGGAGGCCTC	0.582																																					p.R258W		Atlas-SNP	.											FBXL7,colon,carcinoma,0,3	FBXL7	138	3	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C772T						scavenged	.						51	51	51					5																	15936591		2101	4220	6321	SO:0001583	missense	23194	exon4			TTGACCCGGGAGG	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.772C>T	5.37:g.15936591C>T	ENSP00000423630:p.Arg258Trp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	87	2	0.0229885	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386340	0.61956	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53857	0.6;0.6;0.6	5.31	5.31	0.75309	.	0.053169	0.85682	D	0.000000	T	0.65217	0.2670	L	0.61036	1.89	0.80722	D	1	D	0.71674	0.998	P	0.54174	0.744	T	0.69146	-0.5222	10	0.72032	D	0.01	.	18.9742	0.92728	0.0:1.0:0.0:0.0	.	258	Q9UJT9	FBXL7_HUMAN	W	258;211;246	ENSP00000423630:R258W;ENSP00000425184:R211W;ENSP00000329632:R246W	ENSP00000329632:R246W	R	+	1	2	FBXL7	15989591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.940000	0.70187	2.495000	0.84180	0.655000	0.94253	CGG	.	.	none		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15936591	C	T	15936591	3	4	23	1	0	0	0	0	1	0	0	0	5724	643	23	1	786	1	FBXL7	5	15936591	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1632003	15936591	164978669	1303	17759										
ZNF622	90441	hgsc.bcm.edu	37	chr5	16465442	16465442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcctttctccaagttcttTtcattcatcatctccacttt	2	13	6	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:16465442T>C	ENST00000308683.2	-	1	459	c.333A>G	c.(331-333)gaA>gaG	p.E111E		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	111					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCAAGTTCTTTTCATTCATCA	0.562																																					p.E111E		Atlas-SNP	.											ZNF622,NS,carcinoma,-2,1	ZNF622	49	1	0			c.A333G						PASS	.						167	152	157					5																	16465442		2203	4300	6503	SO:0001819	synonymous_variant	90441	exon1			GTTCTTTTCATTC	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.333A>G	5.37:g.16465442T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	143	66	0.461538	NM_033414		Silent	SNP	ENST00000308683.2	37	CCDS3886.1																																																																																			.	.	none		0.562	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		C	16465442	T	C	16465442	2	2	23	1	0	0	0	0	0	0	0	1	18043	1838	64	2		2	ZNF622	5	16465442	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	528851	16465442	164449818	1304	17760										
PDZD2	23037	hgsc.bcm.edu	37	chr5	32074099	32074099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctccgccagaggaaggtaGgctgctacgatgccaacgat	12	12	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:32074099G>T	ENST00000438447.1	+	18	3275	c.2887G>T	c.(2887-2889)Ggc>Tgc	p.G963C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G963C			O15018	PDZD2_HUMAN	PDZ domain containing 2	963					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGAAGGTAGGCTGCTACGA	0.602																																					p.G963C		Atlas-SNP	.											PDZD2,NS,carcinoma,-2,1	PDZD2	306	1	0			c.G2887T						scavenged	.						64	68	67					5																	32074099		2203	4300	6503	SO:0001583	missense	23037	exon17			AAGGTAGGCTGCT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2887G>T	5.37:g.32074099G>T	ENSP00000402033:p.Gly963Cys	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	170	2	0.0117647	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745850	0.69418	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06933	3.24;3.24	5.78	3.9	0.45041	.	0.454783	0.19483	N	0.113177	T	0.12390	0.0301	N	0.24115	0.695	0.27800	N	0.942522	D;D	0.71674	0.997;0.998	P;P	0.60173	0.707;0.87	T	0.05257	-1.0896	10	0.45353	T	0.12	.	9.6094	0.39654	0.0802:0.1875:0.7324:0.0	.	789;963	B4E3P2;O15018	.;PDZD2_HUMAN	C	963;765;963	ENSP00000402033:G963C;ENSP00000282493:G963C	ENSP00000282493:G963C	G	+	1	0	PDZD2	32109856	0.996000	0.38824	0.996000	0.52242	0.992000	0.81027	2.320000	0.43797	1.304000	0.44892	0.563000	0.77884	GGC	.	.	none		0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32074099	G	T	32074099	3	4	23	1	0	0	0	0	1	0	0	0	11701	1000	35	4	2953	4	PDZD2	5	32074099	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15608657	32074099	148841161	1305	17761										
ZFR	51663	hgsc.bcm.edu	37	chr5	32400266	32400266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taacacattcggttccttttAtgtcttctgctttatttcct	4	10	2	0	rs1051489	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:32400266A>G	ENST00000265069.8	-	9	1661	c.1559T>C	c.(1558-1560)aTa>aCa	p.I520T		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	520			I -> T (in dbSNP:rs1051489). {ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGTTCCTTTTATGTCTTCTGC	0.348													A|||	1166	0.232827	0.0779	0.2522	5008	,	,		16483	0.2698		0.337	False		,,,				2504	0.2832				p.I520T		Atlas-SNP	.											.	ZFR	98	.	0			c.T1559C						PASS	.	A	THR/ILE	507,3899	232.0+/-245.7	25,457,1721	137	122	127		1559	6.2	1	5	dbSNP_86	127	2943,5657	457.8+/-364.4	503,1937,1860	yes	missense	ZFR	NM_016107.3	89	528,2394,3581	GG,GA,AA		34.2209,11.507,26.5262	benign	520/1075	32400266	3450,9556	2203	4300	6503	SO:0001583	missense	51663	exon9			CCTTTTATGTCTT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1559T>C	5.37:g.32400266A>G	ENSP00000265069:p.Ile520Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	140	73	0.521429	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	570	0.260989010989011	48	0.0975609756097561	112	0.30939226519337015	166	0.2902097902097902	244	0.32189973614775724	A	10.44	1.351153	0.24512	0.11507	0.342209	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04654	3.58	6.16	6.16	0.99307	.	0.448419	0.23554	N	0.046933	T	0.00012	0.0000	N	0.03608	-0.345	0.48040	P	4.3000000000004146E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.52917	-0.8511	9	0.14252	T	0.57	.	12.6258	0.56628	0.8622:0.1378:0.0:0.0	rs1051489;rs3191875;rs17846613;rs17859700;rs61138909;rs1051489	520	Q96KR1	ZFR_HUMAN	T	520;498	ENSP00000265069:I520T	ENSP00000265069:I520T	I	-	2	0	ZFR	32436023	0.986000	0.35501	0.999000	0.59377	0.980000	0.70556	3.036000	0.49767	2.367000	0.80283	0.528000	0.53228	ATA	A|0.734;G|0.266	0.266	strong		0.348	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			G	32400266	A	G	32400266	3	3	23	1	0	0	0	0	1	0	0	0	17656	449	16	2	1713	2	ZFR	5	32400266	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	326167	32400266	148514994	1306	17762										
NPR3	4883	hgsc.bcm.edu	37	chr5	32786389	32786389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacccagcaagaagaaagtAaccttggaaaacatcgggaa	10	8	0	2	rs2270915	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:32786389A>G	ENST00000265074.8	+	8	1907	c.1564A>G	c.(1564-1566)Aac>Gac	p.N522D	NPR3_ENST00000415167.2_Missense_Mutation_p.N521D|NPR3_ENST00000434067.2_Missense_Mutation_p.N306D|NPR3_ENST00000415685.2_Missense_Mutation_p.N305D|AC026703.1_ENST00000326958.1_5'Flank	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	522				N -> D (in Ref. 4; BAG61896). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGAAGAAAGTAACCTTGGAAA	0.403													A|||	979	0.195487	0.0991	0.2147	5008	,	,		18620	0.2024		0.1879	False		,,,				2504	0.3129				p.N522D		Atlas-SNP	.											.	NPR3	65	.	0			c.A1564G						PASS	.	A	ASP/ASN,ASP/ASN,ASP/ASN	428,3234		33,362,1436	78	73	74		1561,1564,913	5	0.7	5	dbSNP_100	74	1649,6519		159,1331,2594	yes	missense,missense,missense	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	23,23,23	192,1693,4030	GG,GA,AA		20.1885,11.6876,17.5571	benign,benign,benign	521/541,522/542,305/325	32786389	2077,9753	1831	4084	5915	SO:0001583	missense	4883	exon8			GAAAGTAACCTTG		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1564A>G	5.37:g.32786389A>G	ENSP00000265074:p.Asn522Asp	Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	265	115	0.433962	NM_001204375	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	388	0.17765567765567766	47	0.09552845528455285	68	0.1878453038674033	122	0.21328671328671328	151	0.19920844327176782	A	12.56	1.975892	0.34848	0.116876	0.201885	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.17	5.0	0.66597	.	0.198485	0.53938	D	0.000058	T	0.00012	0.0000	N	0.08118	0	0.27179	P	0.9607229	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.10268	-1.0637	9	0.33940	T	0.23	-14.8784	13.7445	0.62868	0.8716:0.1283:0.0:0.0	rs2270915;rs52798471;rs59552869;rs2270915	305;522;521	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	D	306;305;522;521	ENSP00000388408:N306D;ENSP00000402490:N305D;ENSP00000265074:N522D;ENSP00000398028:N521D	ENSP00000265074:N522D	N	+	1	0	NPR3	32822146	1.000000	0.71417	0.741000	0.31004	0.983000	0.72400	4.122000	0.57910	1.137000	0.42214	0.533000	0.62120	AAC	A|0.833;G|0.167	0.167	strong		0.403	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		G	32786389	A	G	32786389	3	3	23	1	0	0	0	0	1	0	0	0	10596	362	13	2	1591	2	NPR3	5	32786389	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	386123	32786389	148128871	1307	17763										
RAI14	26064	hgsc.bcm.edu	37	chr5	34757666	34757666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgctcggcaagaaggggGccagtgccaccaaacacgac	12	14	0	1	rs17521570	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:34757666G>A	ENST00000265109.3	+	3	417	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	RAI14_ENST00000506376.1_Missense_Mutation_p.A36T|RAI14_ENST00000512629.1_Missense_Mutation_p.A44T|RAI14_ENST00000397449.1_Missense_Mutation_p.A37T|RAI14_ENST00000503673.1_Missense_Mutation_p.A44T|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Missense_Mutation_p.A44T|RAI14_ENST00000515799.1_Missense_Mutation_p.A47T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	44			A -> T (in dbSNP:rs17521570).			actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAGAAGGGGGCCAGTGCCAC	0.542													G|||	495	0.0988419	0.0076	0.1052	5008	,	,		18526	0.1141		0.1262	False		,,,				2504	0.1738				p.A47T		Atlas-SNP	.											.	RAI14	100	.	0			c.G139A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	123,4283	91.1+/-129.8	0,123,2080	75	72	73		130,130,130,106,139,130	3.9	1	5	dbSNP_123	73	1052,7548	222.3+/-259.4	46,960,3294	yes	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	58,58,58,58,58,58	46,1083,5374	AA,AG,GG		12.2326,2.7916,9.0343	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	44/981,44/981,44/952,36/973,47/984,44/981	34757666	1175,11831	2203	4300	6503	SO:0001583	missense	26064	exon5			AAGGGGGCCAGTG	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.130G>A	5.37:g.34757666G>A	ENSP00000265109:p.Ala44Thr	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	24	15	0.625	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	207	0.09478021978021978	6	0.012195121951219513	33	0.09116022099447514	62	0.10839160839160839	106	0.13984168865435356	G	14.89	2.671784	0.47781	0.027916	0.122326	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.72	3.89	0.44902	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.01189	0.0039	M	0.74389	2.26	0.25756	P	0.9850026	B;B;B;B	0.21688	0.026;0.059;0.003;0.003	B;B;B;B	0.27170	0.046;0.077;0.009;0.015	T	0.48969	-0.8987	8	0.45353	T	0.12	-7.0983	11.6973	0.51551	0.067:0.1235:0.8095:0.0	rs17521570;rs52832216;rs17521570	36;44;47;44	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	44;44;44;44;44;44;44;44;44;44;47;44;44;36;37	ENSP00000265109:A44T;ENSP00000424879:A44T;ENSP00000422112:A44T;ENSP00000422377:A44T;ENSP00000388725:A44T;ENSP00000421424:A44T;ENSP00000422942:A44T;ENSP00000422515:A44T;ENSP00000422114:A44T;ENSP00000424502:A44T;ENSP00000427123:A47T;ENSP00000426770:A44T;ENSP00000425115:A44T;ENSP00000423854:A36T;ENSP00000380591:A37T	ENSP00000265109:A44T	A	+	1	0	RAI14	34793423	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.473000	0.35387	1.443000	0.47586	0.650000	0.86243	GCC	G|0.906;A|0.094	0.094	strong		0.542	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		A	34757666	G	A	34757666	3	1	23	1	0	0	0	0	1	0	0	0	13008	1203	42	2	201	2	RAI14	5	34757666	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1971277	34757666	146157594	1308	17764										
AGXT2	64902	hgsc.bcm.edu	37	chr5	35037115	35037115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattggagggtggaagaagaCggtgcttgtatgccacaggc	16	7	0	2	rs37369	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:35037115C>T	ENST00000231420.6	-	4	618	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	140			V -> I (in dbSNP:rs37369). {ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGGAAGAAGACGGTGCTTGTA	0.522													C|||	1971	0.39357	0.6309	0.3242	5008	,	,		20047	0.5744		0.0865	False		,,,				2504	0.2515				p.V140I		Atlas-SNP	.											.	AGXT2	89	.	0			c.G418A						PASS	.	C	ILE/VAL	2374,2032	611.2+/-391.7	641,1092,470	112	108	109	http://www.ncbi.nlm.nih.gov/pubmed?term	418	0.6	0	5	dbSNP_76	109	734,7866	177.8+/-227.3	29,676,3595	yes	missense	AGXT2	NM_031900.3	29	670,1768,4065	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	8.5349,46.1189,23.8967	benign	140/515	35037115	3108,9898	2203	4300	6503	SO:0001583	missense	64902	exon4			AGAAGACGGTGCT	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.418G>A	5.37:g.35037115C>T	ENSP00000231420:p.Val140Ile	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	121	47	0.38843	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	799	0.3658424908424908	302	0.6138211382113821	86	0.23756906077348067	346	0.6048951048951049	65	0.08575197889182058	C	0.008	-1.929815	0.00488	0.538811	0.085349	ENSG00000113492	ENST00000231420	T	0.19105	2.17	5.7	0.622	0.17648	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.351663	0.31495	N	0.007546	T	0.00012	0.0000	N	0.00996	-1.065	0.50039	P	1.5100000000001224E-4	B;B	0.10296	0.002;0.003	B;B	0.11329	0.006;0.003	T	0.35400	-0.9790	9	0.08179	T	0.78	-5.5	6.7804	0.23642	0.0:0.2668:0.4002:0.333	rs37369;rs1141800;rs3205606;rs52830900;rs57886686;rs37369	140;140	E9PDL7;Q9BYV1	.;AGT2_HUMAN	I	140	ENSP00000231420:V140I	ENSP00000231420:V140I	V	-	1	0	AGXT2	35072872	0.043000	0.20138	0.032000	0.17829	0.046000	0.14306	0.282000	0.18829	-0.208000	0.10171	-0.143000	0.13931	GTC	C|0.692;T|0.308	0.308	strong		0.522	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		T	35037115	C	T	35037115	3	4	23	1	0	0	0	0	1	0	0	0	405	536	19	1	1170	1	AGXT2	5	35037115	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	279449	35037115	145878145	1309	17765										
SPEF2	79925	hgsc.bcm.edu	37	chr5	35641582	35641582	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgcttggagccaacacttAaccttctgggtgtgcagttt	10	11	1	0	rs6897513	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:35641582A>C	ENST00000356031.3	+	3	365	c.211A>C	c.(211-213)Aac>Cac	p.N71H	SPEF2_ENST00000509059.1_Missense_Mutation_p.N71H|SPEF2_ENST00000282469.6_Missense_Mutation_p.N71H|SPEF2_ENST00000440995.2_Missense_Mutation_p.N71H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.		N -> H (in dbSNP:rs6897513). {ECO:0000269|PubMed:15489334}.		axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAACACTTAACCTTCTGGG	0.383													C|||	3401	0.679113	0.7194	0.6873	5008	,	,		17171	0.7401		0.5278	False		,,,				2504	0.7117				p.N71H		Atlas-SNP	.											.	SPEF2	324	.	0			c.A211C						PASS	.	C	HIS/ASN,HIS/ASN	3041,1365	453.0+/-350.2	1032,977,194	89	90	90		211,211	5.9	1	5	dbSNP_116	90	4707,3893	544.2+/-384.5	1257,2193,850	yes	missense,missense	SPEF2	NM_024867.3,NM_144722.3	68,68	2289,3170,1044	CC,CA,AA		45.2674,30.9805,40.4275	benign,benign	71/1823,71/515	35641582	7748,5258	2203	4300	6503	SO:0001583	missense	79925	exon3			ACACTTAACCTTC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.211A>C	5.37:g.35641582A>C	ENSP00000348314:p.Asn71His	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	127	126	0.992126	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	1448	0.663003663003663	375	0.7621951219512195	245	0.6767955801104972	421	0.736013986013986	407	0.5369393139841688	C	9.414	1.081246	0.20309	0.690195	0.547326	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.93	5.93	0.95920	Calponin homology domain (1);	0.317648	0.33834	N	0.004513	T	0.00012	0.0000	N	0.00210	-1.845	0.09310	P	1.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.41484	-0.9506	9	0.02654	T	1	.	16.7419	0.85461	0.1305:0.8695:0.0:0.0	rs6897513;rs17267978;rs57065583;rs6897513	71;71;71	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	71	ENSP00000282469:N71H;ENSP00000348314:N71H;ENSP00000421593:N71H;ENSP00000426259:N71H;ENSP00000412125:N71H	ENSP00000282469:N71H	N	+	1	0	SPEF2	35677339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.407000	0.44565	1.534000	0.49203	-0.121000	0.15023	AAC	A|0.372;C|0.621	0.621	strong		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		C	35641582	A	C	35641582	3	2	23	1	0	0	0	0	1	0	0	0	15034	362	13	5	221	5	SPEF2	5	35641582	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	604467	35641582	145273678	1310	17766										
SPEF2	79925	hgsc.bcm.edu	37	chr5	35654711	35654711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaaatacttactcagatgaCgagtacattaaaaaaatcca	4	7	1	2	rs2270558	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:35654711C>T	ENST00000356031.3	+	7	1015	c.861C>T	c.(859-861)gaC>gaT	p.D287D	SPEF2_ENST00000509059.1_Silent_p.D287D|SPEF2_ENST00000282469.6_Silent_p.D287D|SPEF2_ENST00000440995.2_Silent_p.D287D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	287					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCAGATGACGAGTACATTA	0.368													C|||	3391	0.677117	0.7194	0.683	5008	,	,		16471	0.7401		0.5229	False		,,,				2504	0.7096				p.D287D		Atlas-SNP	.											SPEF2,NS,carcinoma,+2,1	SPEF2	324	1	0			c.C861T						PASS	.	C	,	3037,1369	672.6+/-402.7	1029,979,195	73	75	74		861,861	-3.9	1	5	dbSNP_100	74	4662,3938	602.0+/-394.5	1232,2198,870	no	coding-synonymous,coding-synonymous	SPEF2	NM_024867.3,NM_144722.3	,	2261,3177,1065	TT,TC,CC		45.7907,31.0713,40.8042	,	287/1823,287/515	35654711	7699,5307	2203	4300	6503	SO:0001819	synonymous_variant	79925	exon7			AGATGACGAGTAC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.861C>T	5.37:g.35654711C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	139	136	0.978417	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	CCDS43309.1																																																																																			C|0.379;A|0.004	.	strong		0.368	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		T	35654711	C	T	35654711	2	4	23	1	0	0	0	0	0	0	0	1	15034	535	19	1		1	SPEF2	5	35654711	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13129	35654711	145260549	1311	17767										
UGT3A2	167127	hgsc.bcm.edu	37	chr5	36039683	36039683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttccatatcaccccttggGgtaggtgagcaaaggcattg	11	10	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:36039683G>A	ENST00000282507.3	-	5	1072	c.971C>T	c.(970-972)cCc>cTc	p.P324L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P290L|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P22L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	324					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCCCTTGGGGTAGGTGAGC	0.502																																					p.P324L		Atlas-SNP	.											UGT3A2,rectum,carcinoma,-1,1	UGT3A2	117	1	0			c.C971T						scavenged	.						143	131	135					5																	36039683		2203	4300	6503	SO:0001583	missense	167127	exon5			CCTTGGGGTAGGT		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.971C>T	5.37:g.36039683G>A	ENSP00000282507:p.Pro324Leu	Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	132	2	0.0151515	NM_174914	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113366	0.77210	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.68765	-0.35;-0.35;-0.35	3.18	3.18	0.36537	.	0.074676	0.53938	D	0.000051	D	0.83727	0.5317	H	0.96111	3.77	0.21782	N	0.999546	P;P	0.50066	0.738;0.931	P;P	0.55455	0.776;0.737	T	0.78740	-0.2086	10	0.87932	D	0	.	14.2717	0.66155	0.0:0.0:1.0:0.0	.	290;324	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	324;290;22	ENSP00000282507:P324L;ENSP00000427404:P290L;ENSP00000445367:P22L	ENSP00000282507:P324L	P	-	2	0	UGT3A2	36075440	0.996000	0.38824	0.009000	0.14445	0.320000	0.28249	5.518000	0.67068	2.077000	0.62373	0.591000	0.81541	CCC	.	.	none		0.502	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36039683	G	A	36039683	3	1	23	1	0	0	0	0	1	0	0	0	16961	1232	43	2	612	2	UGT3A2	5	36039683	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	384972	36039683	144875577	1312	17768										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37153871	37153871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtagatctagcatttcagGcttggggaaatcctgttcta	10	7	3	1	rs77014998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:37153871G>T	ENST00000508244.1	-	40	8275	c.8182C>A	c.(8182-8184)Cct>Act	p.P2728T	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2728T|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1626T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2728						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGCATTTCAGGCTTGGGGAAA	0.358													G|||	13	0.00259585	0.0	0.0058	5008	,	,		19975	0.0		0.0089	False		,,,				2504	0.0				p.P2728T		Atlas-SNP	.											.	C5orf42	422	.	0			c.C8182A						PASS	.	G	THR/PRO	20,4386	27.2+/-55.0	0,20,2183	93	83	86		8182	2.3	0	5	dbSNP_131	86	99,8501	54.4+/-115.2	1,97,4202	yes	missense	C5orf42	NM_023073.3	38	1,117,6385	TT,TG,GG		1.1512,0.4539,0.915	benign	2728/3198	37153871	119,12887	2203	4300	6503	SO:0001583	missense	65250	exon41			TTTCAGGCTTGGG		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8182C>A	5.37:g.37153871G>T	ENSP00000421690:p.Pro2728Thr	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	G	3.383	-0.126029	0.06795	0.004539	0.011512	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.17854	2.25;2.25;2.35;2.34	5.41	2.29	0.28610	.	1.705140	0.03544	N	0.224372	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.29274	-1.0017	10	0.16420	T	0.52	.	4.6926	0.12788	0.1913:0.0:0.5443:0.2644	.	2728;1626	E9PH94;Q9H799	.;CE042_HUMAN	T	2728;2728;1626;1794;1662	ENSP00000421690:P2728T;ENSP00000389014:P2728T;ENSP00000274258:P1626T;ENSP00000424223:P1794T	ENSP00000274258:P1626T	P	-	1	0	C5orf42	37189628	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.288000	0.18939	0.645000	0.30675	0.591000	0.81541	CCT	G|0.992;T|0.008	0.008	strong		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37153871	G	T	37153871	3	4	23	1	0	0	0	0	1	0	0	0	2301	1203	42	4	1459	4	C5orf42	5	37153871	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1114188	37153871	143761389	1313	17769										
OSMR	9180	hgsc.bcm.edu	37	chr5	38904082	38904082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccataaggaataatttcacaTatttgtgtcagattgaactc	6	7	2	2	rs35117676	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:38904082T>C	ENST00000274276.3	+	8	1492	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAATTTCACATATTTGTGTCA	0.328													T|||	18	0.00359425	0.0	0.0072	5008	,	,		18317	0.0		0.0109	False		,,,				2504	0.002				p.Y364H		Atlas-SNP	.											.	OSMR	133	.	0			c.T1090C						PASS	.	T	HIS/TYR	16,4390	24.3+/-50.5	0,16,2187	61	63	62		1090	-1.3	0	5	dbSNP_126	62	124,8474	64.9+/-127.2	1,122,4176	yes	missense	OSMR	NM_003999.2	83	1,138,6363	CC,CT,TT		1.4422,0.3631,1.0766	benign	364/980	38904082	140,12864	2203	4299	6502	SO:0001583	missense	9180	exon8			TTCACATATTTGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1090T>C	5.37:g.38904082T>C	ENSP00000274276:p.Tyr364His	Somatic	387	1	0.00258398		WXS	Illumina HiSeq	Phase_I	365	171	0.468493	NM_003999	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	13	0.005952380952380952	0	0.0	3	0.008287292817679558	0	0.0	10	0.013192612137203167	T	12.79	2.044954	0.36085	0.003631	0.014422	ENSG00000145623	ENST00000274276	T	0.53640	0.61	5.75	-1.26	0.09376	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.457709	0.22766	N	0.055885	T	0.19644	0.0472	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.37601	0.254	T	0.25222	-1.0138	10	0.87932	D	0	.	9.3318	0.38027	0.0:0.32:0.0:0.68	rs35117676	364	Q99650	OSMR_HUMAN	H	364	ENSP00000274276:Y364H	ENSP00000274276:Y364H	Y	+	1	0	OSMR	38939839	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	-0.039000	0.12124	-0.126000	0.11682	-0.408000	0.06270	TAT	T|0.991;C|0.009	0.009	strong		0.328	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		C	38904082	T	C	38904082	3	2	23	1	0	0	0	0	1	0	0	0	11292	1406	49	2	1154	2	OSMR	5	38904082	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1750211	38904082	142011178	1314	17770										
OSMR	9180	hgsc.bcm.edu	37	chr5	38919158	38919158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtcatctctgcagaccccGaaaacagtgagtttgttttc	8	10	2	2	rs10941412	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:38919158G>A	ENST00000274276.3	+	11	1981	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	527	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> K (in dbSNP:rs10941412).		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCAGACCCCGAAAACAGTGA	0.368													G|||	733	0.146366	0.2678	0.0908	5008	,	,		19569	0.0		0.1839	False		,,,				2504	0.1339				p.E527K		Atlas-SNP	.											.	OSMR	133	.	0			c.G1579A						PASS	.	G	LYS/GLU	1058,3348	385.4+/-325.7	130,798,1275	103	98	100		1579	4	0	5	dbSNP_120	100	1444,7156	276.4+/-292.3	114,1216,2970	yes	missense	OSMR	NM_003999.2	56	244,2014,4245	AA,AG,GG		16.7907,24.0127,19.2373	possibly-damaging	527/980	38919158	2502,10504	2203	4300	6503	SO:0001583	missense	9180	exon11			GACCCCGAAAACA	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1579G>A	5.37:g.38919158G>A	ENSP00000274276:p.Glu527Lys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	186	91	0.489247	NM_003999	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	291	0.13324175824175824	118	0.23983739837398374	37	0.10220994475138122	0	0.0	136	0.17941952506596306	G	13.91	2.377555	0.42105	0.240127	0.167907	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.43688	0.94;1.26	4.91	4.04	0.47022	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.818301	0.11790	N	0.529272	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	D	0.57257	0.979	P	0.46940	0.532	T	0.03761	-1.1006	9	0.07644	T	0.81	.	8.9699	0.35899	0.0998:0.0:0.9002:0.0	rs10941412;rs10941412	527	Q99650	OSMR_HUMAN	K	527;134	ENSP00000274276:E527K;ENSP00000423913:E134K	ENSP00000274276:E527K	E	+	1	0	OSMR	38954915	0.024000	0.19004	0.003000	0.11579	0.018000	0.09664	2.348000	0.44045	1.295000	0.44724	0.591000	0.81541	GAA	G|0.831;A|0.169	0.169	strong		0.368	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		A	38919158	G	A	38919158	3	1	23	1	0	0	0	0	1	0	0	0	11292	1059	37	1	1655	1	OSMR	5	38919158	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15076	38919158	141996102	1315	17771										
PRKAA1	5562	hgsc.bcm.edu	37	chr5	40765280	40765280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcaatcatggttgaactAtatgatggatcctcaggaaa	8	7	4	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:40765280A>G	ENST00000397128.2	-	7	890	c.882T>C	c.(880-882)taT>taC	p.Y294Y	PRKAA1_ENST00000354209.3_Silent_p.Y309Y	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	294					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGTTGAACTATATGATGGAT	0.388																																					p.Y309Y		Atlas-SNP	.											.	PRKAA1	27	.	0			c.T927C						PASS	.						126	115	118					5																	40765280		1838	4091	5929	SO:0001819	synonymous_variant	5562	exon8			TGAACTATATGAT		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.882T>C	5.37:g.40765280A>G		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	306	131	0.428105	NM_206907	A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	CCDS3932.2																																																																																			.	.	none		0.388	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		G	40765280	A	G	40765280	2	3	23	1	0	0	0	0	0	0	0	1	12493	456	16	2		2	PRKAA1	5	40765280	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1846122	40765280	140149980	1316	17772										
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	41033163	41033163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcatgtaaccaatcagcaTctccttgtaggaaaactgga	8	10	2	0	rs10067611	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:41033163T>C	ENST00000399564.4	-	23	2791	c.2341A>G	c.(2341-2343)Atg>Gtg	p.M781V	MROH2B_ENST00000506092.2_Missense_Mutation_p.M336V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	781			M -> V (in dbSNP:rs10067611).														CCAATCAGCATCTCCTTGTAG	0.443													T|||	154	0.0307508	0.0303	0.0115	5008	,	,		21483	0.0536		0.0368	False		,,,				2504	0.0153				p.M781V		Atlas-SNP	.											.	.	.	.	0			c.A2341G						PASS	.	T	VAL/MET	131,3905		4,123,1891	122	113	116		2341	-0.3	0.1	5	dbSNP_119	116	246,8104		4,238,3933	yes	missense	HEATR7B2	NM_173489.4	21	8,361,5824	CC,CT,TT		2.9461,3.2458,3.0438	benign	781/1586	41033163	377,12009	2018	4175	6193	SO:0001583	missense	133558	exon23			TCAGCATCTCCTT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2341A>G	5.37:g.41033163T>C	ENSP00000382476:p.Met781Val	Somatic	393	1	0.00254453		WXS	Illumina HiSeq	Phase_I	364	155	0.425824	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	81	0.03708791208791209	19	0.03861788617886179	5	0.013812154696132596	31	0.05419580419580419	26	0.03430079155672823	T	0.028	-1.353425	0.01256	0.032458	0.029461	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05199	3.48;3.48	5.55	-0.28	0.12886	Armadillo-type fold (1);	1.162530	0.06333	N	0.706578	T	0.00384	0.0012	N	0.02011	-0.69	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.44922	-0.9296	10	0.30854	T	0.27	.	0.1565	0.00098	0.3332:0.2446:0.1654:0.2568	rs10067611;rs52811327;rs60860203;rs10067611	781	Q7Z745	HTRB2_HUMAN	V	336;486;781	ENSP00000441504:M336V;ENSP00000382476:M781V	ENSP00000296803:M486V	M	-	1	0	HEATR7B2	41068920	0.851000	0.29673	0.131000	0.22000	0.099000	0.18886	0.119000	0.15626	-0.087000	0.12528	-0.333000	0.08304	ATG	T|0.963;C|0.037	0.037	strong		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		C	41033163	T	C	41033163	3	2	23	1	0	0	0	0	1	0	0	0	7035	1435	50	2	2496	2	HEATR7B2	5	41033163	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	267883	41033163	139882097	1317	17773										
HEATR7B2	133558	hgsc.bcm.edu	37	chr5	41054934	41054934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaatgatgtgatccctcaAcctgggctctgaaagacaga	10	9	2	6	rs325874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:41054934A>G	ENST00000399564.4	-	11	1492	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	348																	TGATCCCTCAACCTGGGCTCT	0.383													A|||	1074	0.214457	0.2095	0.1585	5008	,	,		18279	0.2222		0.2286	False		,,,				2504	0.2382				p.L348L		Atlas-SNP	.											.	.	.	.	0			c.T1042C						PASS	.	A		771,2899		83,605,1147	112	105	107		1042	-0.9	0	5	dbSNP_79	107	1831,6327		192,1447,2440	no	coding-synonymous	HEATR7B2	NM_173489.4		275,2052,3587	GG,GA,AA		22.4442,21.0082,21.9986		348/1586	41054934	2602,9226	1835	4079	5914	SO:0001819	synonymous_variant	133558	exon11			CCCTCAACCTGGG		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1042T>C	5.37:g.41054934A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	117	61	0.521368	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																			A|0.778;G|0.222	0.222	strong		0.383	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41054934	A	G	41054934	2	3	23	1	0	0	0	0	0	0	0	1	7035	40	2	2		2	HEATR7B2	5	41054934	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21771	41054934	139860326	1318	17774										
HCN1	348980	hgsc.bcm.edu	37	chr5	45262443	45262443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgtctgtggctgcggggaCggctgctgtggctgagtctg	20	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:45262443C>T	ENST00000303230.4	-	8	2310	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	751	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637																																					p.P751P		Atlas-SNP	.											HCN1,right_upper_lobe,carcinoma,0,1	HCN1	298	1	0			c.G2253A						scavenged	.						47	48	48					5																	45262443		2203	4300	6503	SO:0001819	synonymous_variant	348980	exon8			CGGGGACGGCTGC	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2253G>A	5.37:g.45262443C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_021072		Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																			.	.	none		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262443	C	T	45262443	2	4	23	1	0	0	0	0	0	0	0	1	6996	523	19	1		1	HCN1	5	45262443	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4207509	45262443	135652817	1319	17775										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52347369	52347369	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggacctcacaaacacattCggagcaattcaatatgcaag	9	10	2	0	rs1126643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:52347369C>T	ENST00000296585.5	+	7	902	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	253	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAACACATTCGGAGCAATTC	0.328													C|||	1691	0.33766	0.2806	0.4424	5008	,	,		16165	0.2827		0.4026	False		,,,				2504	0.3303				p.F253F		Atlas-SNP	.											.	ITGA2	211	.	0			c.C759T	GRCh37	CM993453	ITGA2	M	rs1126643	PASS	.	C		1343,3063	448.1+/-348.6	209,925,1069	108	105	106		759	4.9	1	5	dbSNP_86	106	3414,5186	503.8+/-376.0	651,2112,1537	no	coding-synonymous	ITGA2	NM_002203.3		860,3037,2606	TT,TC,CC		39.6977,30.4812,36.5754		253/1182	52347369	4757,8249	2203	4300	6503	SO:0001819	synonymous_variant	3673	exon7			CACATTCGGAGCA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.759C>T	5.37:g.52347369C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	143	142	0.993007	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			C|0.629;T|0.371	0.371	strong		0.328	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52347369	C	T	52347369	2	4	23	1	0	0	0	0	0	0	0	1	7875	883	31	1		1	ITGA2	5	52347369	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7084926	52347369	128567891	1320	17776										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52351413	52351413	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgggcgacgaagtgctacGaaagtaatggtagttgtaac	15	5	0	0	rs1062535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:52351413G>A	ENST00000296585.5	+	8	968	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GAAGTGCTACGAAAGTAATGG	0.368																																					p.T275T		Atlas-SNP	.											.	ITGA2	211	.	0			c.G825A	GRCh37	CM993454	ITGA2	M	rs1062535	PASS	.	A		1442,2964	467.6+/-354.9	240,962,1001	165	157	160		825	0.4	0.9	5	dbSNP_86	160	3426,5174	504.5+/-376.2	655,2116,1529	no	coding-synonymous	ITGA2	NM_002203.3		895,3078,2530	AA,AG,GG		39.8372,32.7281,37.4289		275/1182	52351413	4868,8138	2203	4300	6503	SO:0001819	synonymous_variant	3673	exon8			TGCTACGAAAGTA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.825G>A	5.37:g.52351413G>A		Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	37	CCDS3957.1																																																																																			G|0.627;A|0.373	0.373	strong		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		A	52351413	G	A	52351413	2	1	23	1	0	0	0	0	0	0	0	1	7875	1045	37	1		1	ITGA2	5	52351413	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4044	52351413	128563847	1321	17777										
PLK2	10769	hgsc.bcm.edu	37	chr5	57753116	57753116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggagccagcaatgaggaCggcattgtataccttgcttc	12	10	0	1	rs17710502	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:57753116C>T	ENST00000274289.3	-	7	1200	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCAATGAGGACGGCATTGTAT	0.433													C|||	607	0.121206	0.202	0.2017	5008	,	,		18580	0.001		0.1292	False		,,,				2504	0.0706				p.P300P		Atlas-SNP	.											.	PLK2	71	.	0			c.G900A						PASS	.	C		814,3592	323.2+/-298.0	90,634,1479	86	82	83		900	-4.1	1	5	dbSNP_123	83	960,7640	209.4+/-250.6	55,850,3395	no	coding-synonymous	PLK2	NM_006622.2		145,1484,4874	TT,TC,CC		11.1628,18.4748,13.6399		300/686	57753116	1774,11232	2203	4300	6503	SO:0001819	synonymous_variant	10769	exon7			TGAGGACGGCATT		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.900G>A	5.37:g.57753116C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			C|0.868;T|0.132	0.132	strong		0.433	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		T	57753116	C	T	57753116	2	4	23	1	0	0	0	0	0	0	0	1	12096	523	19	1		1	PLK2	5	57753116	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5401703	57753116	123162144	1322	17778										
PLK2	10769	hgsc.bcm.edu	37	chr5	57753149	57753149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgcttcccttatgcacctAtaagtttctttgagatttgt	6	9	1	1	rs17767072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:57753149A>G	ENST00000274289.3	-	7	1167	c.867T>C	c.(865-867)taT>taC	p.Y289Y	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TTATGCACCTATAAGTTTCTT	0.423													A|||	590	0.117812	0.1967	0.2017	5008	,	,		18271	0.0		0.1282	False		,,,				2504	0.0624				p.Y289Y		Atlas-SNP	.											.	PLK2	71	.	0			c.T867C						PASS	.	A		789,3617	315.8+/-294.3	89,611,1503	64	65	65		867	0.6	1	5	dbSNP_123	65	957,7643	209.0+/-250.3	56,845,3399	no	coding-synonymous	PLK2	NM_006622.2		145,1456,4902	GG,GA,AA		11.1279,17.9074,13.4246		289/686	57753149	1746,11260	2203	4300	6503	SO:0001819	synonymous_variant	10769	exon7			GCACCTATAAGTT		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.867T>C	5.37:g.57753149A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	70	32	0.457143	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	CCDS3974.1																																																																																			A|0.871;G|0.129	0.129	strong		0.423	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		G	57753149	A	G	57753149	2	3	23	1	0	0	0	0	0	0	0	1	12096	456	16	2		2	PLK2	5	57753149	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	33	57753149	123162111	1323	17779										
FLJ37543	285668	hgsc.bcm.edu	37	chr5	60999768	60999768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagagacaaatagaggaaCggaaagttttgcctacaacc	10	8	0	3	rs436696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:60999768C>T	ENST00000505642.1	+	4	376	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	C5orf64_ENST00000313303.7_Missense_Mutation_p.R101W|C5orf64_ENST00000510414.1_3'UTR	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	101			R -> W (in dbSNP:rs436696). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)				breast(1)	1						AATAGAGGAACGGAAAGTTTT	0.388													C|||	1094	0.21845	0.3411	0.2061	5008	,	,		21113	0.003		0.329	False		,,,				2504	0.1697				p.R101W		Atlas-SNP	.											C5orf64,caecum,carcinoma,0,2	C5orf64	9	2	0			c.C301T						PASS	.	C	TRP/ARG	1219,2651		187,845,903	105	101	102		301	1.6	0	5	dbSNP_80	102	2880,5384		484,1912,1736	yes	missense	C5orf64	NM_173667.2	101	671,2757,2639	TT,TC,CC		34.85,31.4987,33.7811	possibly-damaging	101/131	60999768	4099,8035	1935	4132	6067	SO:0001583	missense	285668	exon4			GAGGAACGGAAAG		CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.301C>T	5.37:g.60999768C>T	ENSP00000423157:p.Arg101Trp	Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	190	89	0.468421	NM_173667	Q2M2H1|Q8N1U8	Missense_Mutation	SNP	ENST00000505642.1	37	CCDS54860.1	488	0.22344322344322345	161	0.32723577235772355	84	0.23204419889502761	1	0.0017482517482517483	242	0.31926121372031663	C	4.794	0.147611	0.09134	0.314987	0.3485	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.40476	1.03;1.03	4.16	1.61	0.23674	.	0.996198	0.08121	N	0.994721	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37267	-0.9713	9	0.87932	D	0	9.0349	5.6444	0.17582	0.0:0.2226:0.0:0.7774	rs436696;rs61432002;rs436696	101	Q2M2E5	CE064_HUMAN	W	101	ENSP00000423157:R101W;ENSP00000318395:R101W	ENSP00000318395:R101W	R	+	1	2	C5orf64	61035525	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.239000	0.18023	0.398000	0.25338	-0.290000	0.09829	CGG	C|0.769;T|0.231	0.231	strong		0.388	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368790.1	NM_173667		T	60999768	C	T	60999768	3	4	23	1	0	0	0	0	1	0	0	0	5929	527	19	1	311	1	FLJ37543	5	60999768	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3246619	60999768	119915492	1324	17780										
IPO11	51194	hgsc.bcm.edu	37	chr5	61772535	61772535	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtataggtacagataatgtGtgtagagatagactggaaaa	12	2	0	3	rs26635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:61772535G>T	ENST00000325324.6	+	9	952	c.783G>T	c.(781-783)gtG>gtT	p.V261V	IPO11_ENST00000409296.3_Silent_p.V301V|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	261					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.V261V(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAGATAATGTGTGTAGAGATA	0.254													G|||	2216	0.442492	0.413	0.4942	5008	,	,		14958	0.3155		0.4881	False		,,,				2504	0.5297				p.V301V		Atlas-SNP	.											IPO11,NS,carcinoma,0,1	IPO11	76	1	1	Substitution - coding silent(1)	stomach(1)	c.G903T						scavenged	.	G	,	1804,2576	497.6+/-363.9	361,1082,747	68	76	73		903,783	-2.3	1	5	dbSNP_76	73	4158,4386	554.4+/-386.5	1034,2090,1148	no	coding-synonymous,coding-synonymous	IPO11	NM_001134779.1,NM_016338.4	,	1395,3172,1895	TT,TG,GG		48.6657,41.1872,46.1312	,	301/1016,261/976	61772535	5962,6962	2190	4272	6462	SO:0001819	synonymous_variant	51194	exon9			TAATGTGTGTAGA	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.783G>T	5.37:g.61772535G>T		Somatic	475	4	0.00842105		WXS	Illumina HiSeq	Phase_I	352	351	0.997159	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	CCDS34167.1																																																																																			G|0.567;T|0.433	0.433	strong		0.254	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		T	61772535	G	T	61772535	2	4	23	1	0	0	0	0	0	0	0	1	7793	1364	48	4		4	IPO11	5	61772535	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	772767	61772535	119142725	1325	17781										
CWC27	10283	hgsc.bcm.edu	37	chr5	64097145	64097145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagtgaaaaaggtgatgcaCcagatttagttgatgtaagt	11	3	0	4	rs7735338	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:64097145C>G	ENST00000381070.3	+	9	983	c.766C>G	c.(766-768)Cca>Gca	p.P256A	CWC27_ENST00000508024.1_Missense_Mutation_p.P256A	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	256			P -> A (in dbSNP:rs7735338). {ECO:0000269|PubMed:9610721}.		mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGGTGATGCACCAGATTTAGT	0.219													G|||	2068	0.412939	0.5023	0.2161	5008	,	,		14340	0.5069		0.341	False		,,,				2504	0.409				p.P256A		Atlas-SNP	.											.	CWC27	47	.	0			c.C766G						PASS	.	G	ALA/PRO	1832,2476		420,992,742	22	24	23		766	0.3	0	5	dbSNP_116	23	2614,5830		451,1712,2059	yes	missense	CWC27	NM_005869.2	27	871,2704,2801	GG,GC,CC		30.9569,42.5255,34.8651	benign	256/473	64097145	4446,8306	2154	4222	6376	SO:0001583	missense	10283	exon9			GATGCACCAGATT	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.766C>G	5.37:g.64097145C>G	ENSP00000370460:p.Pro256Ala	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	130	62	0.476923	NM_005869	O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	CCDS3982.2	888	0.4065934065934066	252	0.5121951219512195	90	0.24861878453038674	280	0.48951048951048953	266	0.35092348284960423	G	0.003	-2.554159	0.00138	0.425255	0.309569	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.38401	1.14;1.14	4.77	0.351	0.16042	.	1.357770	0.04661	N	0.408922	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.44892	-0.9298	9	0.09084	T	0.74	.	0.394	0.00415	0.2246:0.159:0.2921:0.3243	rs7735338;rs52792258;rs7735338	256;256;256;256	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	A	256	ENSP00000370460:P256A;ENSP00000426802:P256A	ENSP00000370460:P256A	P	+	1	0	CWC27	64132901	0.995000	0.38212	0.032000	0.17829	0.000000	0.00434	0.229000	0.17833	-0.290000	0.09025	-1.721000	0.00707	CCA	C|0.646;G|0.354	0.354	strong		0.219	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		G	64097145	C	G	64097145	3	3	23	1	0	0	0	0	1	0	0	0	4070	507	18	4	800	4	CWC27	5	64097145	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2324610	64097145	116818115	1326	17782										
ADAMTS6	11174	hgsc.bcm.edu	37	chr5	64756136	64756136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaaaggttcgataaaataCtcttcatcttctgtagcaat	5	7	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:64756136C>T	ENST00000536360.1	-	4	1305	c.492G>A	c.(490-492)gaG>gaA	p.E164E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	164						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CGATAAAATACTCTTCATCTT	0.308																																					p.E164E		Atlas-SNP	.											.	ADAMTS6	174	.	0			c.G492A						PASS	.						109	114	112					5																	64756136		2203	4300	6503	SO:0001819	synonymous_variant	11174	exon4			AAAATACTCTTCA	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.492G>A	5.37:g.64756136C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	114	8	0.0701754	NM_197941	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																				.	.	none		0.308	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		T	64756136	C	T	64756136	2	4	23	1	0	0	0	0	0	0	0	1	270	564	20	2		2	ADAMTS6	5	64756136	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	658991	64756136	116159124	1327	17783										
ERBB2IP	55914	hgsc.bcm.edu	37	chr5	65350044	65350044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccccacaagtggcccacaAtctgcacctcaaatatatgg	8	14	2	0	rs35278406	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:65350044A>G	ENST00000284037.5	+	21	3287	c.2898A>G	c.(2896-2898)caA>caG	p.Q966Q	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.Q966Q|ERBB2IP_ENST00000511297.1_Silent_p.Q962Q|ERBB2IP_ENST00000380935.1_Silent_p.Q966Q|ERBB2IP_ENST00000380943.2_Silent_p.Q966Q|ERBB2IP_ENST00000380939.2_Silent_p.Q966Q|ERBB2IP_ENST00000506030.1_Silent_p.Q966Q|ERBB2IP_ENST00000380938.2_Silent_p.Q966Q|ERBB2IP_ENST00000508515.1_Silent_p.Q966Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	966					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTGGCCCACAATCTGCACCTC	0.398													A|||	87	0.0173722	0.0008	0.0159	5008	,	,		17609	0.0		0.0388	False		,,,				2504	0.0368				p.Q966Q		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.A2898G						PASS	.	A	,	33,4363		0,33,2165	71	79	76		2898,2898	-5.2	0.5	5	dbSNP_126	76	343,8255		5,333,3961	no	coding-synonymous,coding-synonymous	ERBB2IP	NM_001006600.1,NM_018695.2	,	5,366,6126	GG,GA,AA		3.9893,0.7507,2.8936	,	966/1303,966/1372	65350044	376,12618	2198	4299	6497	SO:0001819	synonymous_variant	55914	exon21			CCCACAATCTGCA		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2898A>G	5.37:g.65350044A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	94	33	0.351064	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																			A|0.974;G|0.026	0.026	strong		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		G	65350044	A	G	65350044	2	3	23	1	0	0	0	0	0	0	0	1	5207	98	4	2		2	ERBB2IP	5	65350044	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	593908	65350044	115565216	1328	17784										
ERBB2IP	55914	hgsc.bcm.edu	37	chr5	65350374	65350374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcgaagtacaatccagcgAcaaagtagtgtgtcctccac	8	12	0	0	rs36303	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:65350374A>G	ENST00000284037.5	+	21	3617	c.3228A>G	c.(3226-3228)cgA>cgG	p.R1076R	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.R1076R|ERBB2IP_ENST00000511297.1_Silent_p.R1072R|ERBB2IP_ENST00000380935.1_Silent_p.R1076R|ERBB2IP_ENST00000380943.2_Silent_p.R1076R|ERBB2IP_ENST00000380939.2_Silent_p.R1076R|ERBB2IP_ENST00000506030.1_Silent_p.R1076R|ERBB2IP_ENST00000380938.2_Silent_p.R1076R|ERBB2IP_ENST00000508515.1_Silent_p.R1076R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1076					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAATCCAGCGACAAAGTAGTG	0.473													A|||	1050	0.209665	0.09	0.2968	5008	,	,		19190	0.4623		0.1203	False		,,,				2504	0.1411				p.R1076R		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.A3228G						PASS	.	A	,	418,3988	205.2+/-227.1	11,396,1796	128	123	125		3228,3228	0.3	1	5	dbSNP_76	125	1191,7409	241.0+/-271.5	84,1023,3193	no	coding-synonymous,coding-synonymous	ERBB2IP	NM_001006600.1,NM_018695.2	,	95,1419,4989	GG,GA,AA		13.8488,9.4871,12.3712	,	1076/1303,1076/1372	65350374	1609,11397	2203	4300	6503	SO:0001819	synonymous_variant	55914	exon21			CCAGCGACAAAGT		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3228A>G	5.37:g.65350374A>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	128	63	0.492188	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																			A|0.830;G|0.170	0.170	strong		0.473	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		G	65350374	A	G	65350374	2	3	23	1	0	0	0	0	0	0	0	1	5207	262	10	2		2	ERBB2IP	5	65350374	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	330	65350374	115564886	1329	17785										
ERBB2IP	55914	hgsc.bcm.edu	37	chr5	65350481	65350481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcatacagagagttccactCagcgggaagaactcctccaa	8	12	2	2	rs3805466	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:65350481C>T	ENST00000284037.5	+	21	3724	c.3335C>T	c.(3334-3336)tCa>tTa	p.S1112L	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1108L|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1112L|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1112L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1112			S -> L (in dbSNP:rs3805466).		basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAGTTCCACTCAGCGGGAAGA	0.488													C|||	418	0.0834665	0.0121	0.2219	5008	,	,		18342	0.1339		0.0417	False		,,,				2504	0.0726				p.S1112L		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.C3335T						PASS	.	C	LEU/SER,LEU/SER	101,4305	79.9+/-118.3	0,101,2102	60	58	59		3335,3335	5.8	1	5	dbSNP_107	59	410,8190	128.3+/-186.6	9,392,3899	yes	missense,missense	ERBB2IP	NM_001006600.1,NM_018695.2	145,145	9,493,6001	TT,TC,CC		4.7674,2.2923,3.929	benign,benign	1112/1303,1112/1372	65350481	511,12495	2203	4300	6503	SO:0001583	missense	55914	exon21			TCCACTCAGCGGG		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3335C>T	5.37:g.65350481C>T	ENSP00000284037:p.Ser1112Leu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	51	0.525773	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	208	0.09523809523809523	9	0.018292682926829267	67	0.1850828729281768	96	0.16783216783216784	36	0.047493403693931395	C	18.19	3.569735	0.65765	0.022923	0.047674	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.39592	1.3;1.3;1.3;1.49;1.07;1.37;1.3;1.33;1.07	5.76	5.76	0.90799	.	0.259894	0.39985	N	0.001207	T	0.00109	0.0003	L	0.47190	1.495	0.20307	P	0.9999122916	P;P;B;P;P;P;P	0.48764	0.835;0.594;0.444;0.773;0.651;0.835;0.915	B;B;B;P;B;B;P	0.53185	0.311;0.164;0.206;0.529;0.084;0.407;0.72	T	0.00017	-1.2377	9	0.72032	D	0.01	.	19.943	0.97172	0.0:1.0:0.0:0.0	rs3805466;rs61274806;rs3805466	1112;1112;1112;1108;1112;1112;1112	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	L	1112;1112;1112;1112;1112;1112;1108;1112;1112	ENSP00000284037:S1112L;ENSP00000370330:S1112L;ENSP00000370326:S1112L;ENSP00000370323:S1112L;ENSP00000370322:S1112L;ENSP00000370325:S1112L;ENSP00000422766:S1108L;ENSP00000426632:S1112L;ENSP00000422015:S1112L	ENSP00000284037:S1112L	S	+	2	0	ERBB2IP	65386237	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.210000	0.77924	2.722000	0.93159	0.650000	0.86243	TCA	C|0.936;T|0.064	0.064	strong		0.488	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		T	65350481	C	T	65350481	3	4	23	1	0	0	0	0	1	0	0	0	5207	838	29	2	3409	2	ERBB2IP	5	65350481	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	107	65350481	115564779	1330	17786										
PIK3R1	5295	hgsc.bcm.edu	37	chr5	67522722	67522722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggactttccgggaacttaCgtagaatatattggaaggaa	13	5	0	1	rs706713	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:67522722C>T	ENST00000521381.1	+	2	835	c.219C>T	c.(217-219)taC>taT	p.Y73Y	PIK3R1_ENST00000521657.1_Silent_p.Y73Y|PIK3R1_ENST00000396611.1_Silent_p.Y73Y|PIK3R1_ENST00000274335.5_Silent_p.Y73Y	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	73	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGGGAACTTACGTAGAATATA	0.498			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T|||	2100	0.419329	0.4425	0.3602	5008	,	,		16257	0.6746		0.2455	False		,,,				2504	0.3456				p.Y73Y		Atlas-SNP	.		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	.	PIK3R1	869	.	1	Whole gene deletion(1)	large_intestine(1)	c.C219T						PASS	.	T		1803,2603	606.6+/-390.8	360,1083,760	45	56	53		219	-9.6	0.2	5	dbSNP_86	53	2012,6588	713.3+/-405.9	256,1500,2544	no	coding-synonymous	PIK3R1	NM_181523.2		616,2583,3304	TT,TC,CC		23.3953,40.9215,29.3326		73/725	67522722	3815,9191	2203	4300	6503	SO:0001819	synonymous_variant	5295	exon2			AACTTACGTAGAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.219C>T	5.37:g.67522722C>T		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	174	78	0.448276	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	CCDS3993.1																																																																																			C|0.633;T|0.367	0.367	strong		0.498	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67522722	C	T	67522722	2	4	23	1	0	0	0	0	0	0	0	1	11918	547	19	1		1	PIK3R1	5	67522722	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2172241	67522722	113392538	1331	17787										
SLC30A5	64924	hgsc.bcm.edu	37	chr5	68419054	68419054	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacatgttttggcagatacActtggcagcattggtgtgat	11	7	0	2	rs164572	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:68419054A>T	ENST00000396591.3	+	14	2410	c.1800A>T	c.(1798-1800)acA>acT	p.T600T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	600					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGCAGATACACTTGGCAGCA	0.318													A|||	2015	0.402356	0.2519	0.4107	5008	,	,		18363	0.5397		0.4225	False		,,,				2504	0.4376				p.T600T		Atlas-SNP	.											.	SLC30A5	54	.	0			c.A1800T						PASS	.	A		1157,3249	410.2+/-335.3	142,873,1188	129	114	119		1800	-1.5	1	5	dbSNP_79	119	3721,4879	533.2+/-382.4	829,2063,1408	no	coding-synonymous	SLC30A5	NM_022902.3		971,2936,2596	TT,TA,AA		43.2674,26.2596,37.5058		600/766	68419054	4878,8128	2203	4300	6503	SO:0001819	synonymous_variant	64924	exon14			AGATACACTTGGC	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1800A>T	5.37:g.68419054A>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																			A|0.607;T|0.393	0.393	strong		0.318	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68419054	A	T	68419054	2	4	23	1	0	0	0	0	0	0	0	1	14558	146	6	5		5	SLC30A5	5	68419054	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	896332	68419054	112496206	1332	17788										
BDP1	55814	hgsc.bcm.edu	37	chr5	70800475	70800475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacacatggaagatcaatcgCgtaaagattttgaagaggaa	10	5	1	4	rs3761966	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:70800475C>T	ENST00000358731.4	+	16	2532	c.2269C>T	c.(2269-2271)Cgt>Tgt	p.R757C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	757			R -> C (in dbSNP:rs3761966). {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCAATCGCGTAAAGATTT	0.343													C|||	1621	0.323682	0.1067	0.4928	5008	,	,		16692	0.505		0.335	False		,,,				2504	0.2986				p.R757C		Atlas-SNP	.											.	BDP1	204	.	0			c.C2269T						PASS	.	C	CYS/ARG	547,3127		37,473,1327	89	81	84		2269	-0.2	0	5	dbSNP_107	84	2808,5364		507,1794,1785	yes	missense	BDP1	NM_018429.2	180	544,2267,3112	TT,TC,CC		34.3612,14.8884,28.3218	benign	757/2625	70800475	3355,8491	1837	4086	5923	SO:0001583	missense	55814	exon16			CAATCGCGTAAAG	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2269C>T	5.37:g.70800475C>T	ENSP00000351575:p.Arg757Cys	Somatic	320	2	0.00625		WXS	Illumina HiSeq	Phase_I	263	262	0.996198	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	750	0.3434065934065934	49	0.09959349593495935	159	0.43922651933701656	291	0.5087412587412588	251	0.3311345646437995	C	0.484	-0.878384	0.02550	0.148884	0.343612	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.09445	2.98	4.92	-0.211	0.13172	.	0.828507	0.10896	N	0.622116	T	0.00012	0.0000	N	0.01003	-1.06	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37709	-0.9694	9	0.35671	T	0.21	.	3.227	0.06735	0.1743:0.2987:0.0:0.527	rs3761966;rs58491588;rs3761966	757;757;757	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	757;757;337;757	ENSP00000351575:R757C	ENSP00000351575:R757C	R	+	1	0	BDP1	70836231	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.258000	0.08733	-0.150000	0.11195	-0.247000	0.11927	CGT	C|0.667;T|0.333	0.333	strong		0.343	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70800475	C	T	70800475	3	4	23	1	0	0	0	0	1	0	0	0	1395	768	27	1	2331	1	BDP1	5	70800475	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2381421	70800475	110114785	1333	17789										
BDP1	55814	hgsc.bcm.edu	37	chr5	70858194	70858194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtccatagtaagaaacgCctaaaacctcttatacctgg	6	11	1	1	rs277941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:70858194C>T	ENST00000358731.4	+	38	7853	c.7590C>T	c.(7588-7590)cgC>cgT	p.R2530R	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2530					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTAAGAAACGCCTAAAACCTC	0.373													.|||	1621	0.323682	0.1067	0.4928	5008	,	,		15735	0.505		0.335	False		,,,				2504	0.2986				p.R2530R		Atlas-SNP	.											.	BDP1	204	.	0			c.C7590T						PASS	.	C		549,3081		38,473,1304	74	69	71		7590	-0.1	0.4	5	dbSNP_79	71	2805,5341		509,1787,1777	no	coding-synonymous	BDP1	NM_018429.2		547,2260,3081	TT,TC,CC		34.4341,15.124,28.4817		2530/2625	70858194	3354,8422	1815	4073	5888	SO:0001819	synonymous_variant	55814	exon38			GAAACGCCTAAAA	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7590C>T	5.37:g.70858194C>T		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																			C|0.662;T|0.338	0.338	strong		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70858194	C	T	70858194	2	4	23	1	0	0	0	0	0	0	0	1	1395	726	26	2		2	BDP1	5	70858194	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	57719	70858194	110057066	1334	17790										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71495041	71495041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacggacccctgaagagggTgggtactcatatgacataag	12	9	1	3	rs3805452	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:71495041T>C	ENST00000296755.7	+	5	6157	c.5859T>C	c.(5857-5859)ggT>ggC	p.G1953G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1953					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGGTGGGTACTCAT	0.473													T|||	1513	0.302117	0.1112	0.2723	5008	,	,		18257	0.5526		0.2555	False		,,,				2504	0.3712				p.G1953G	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.T5859C						PASS	.	T		576,3830	240.9+/-251.5	37,502,1664	60	64	63		5859	-5.5	0	5	dbSNP_107	63	2175,6425	341.2+/-323.9	285,1605,2410	no	coding-synonymous	MAP1B	NM_005909.3		322,2107,4074	CC,CT,TT		25.2907,13.0731,21.1518		1953/2469	71495041	2751,10255	2203	4300	6503	SO:0001819	synonymous_variant	4131	exon5			AGAGGGTGGGTAC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5859T>C	5.37:g.71495041T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	51	49	0.960784	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																			T|0.749;C|0.251	0.251	strong		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		C	71495041	T	C	71495041	2	2	23	1	0	0	0	0	0	0	0	1	9228	1683	59	2		2	MAP1B	5	71495041	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	636847	71495041	109420219	1335	17791										
ZNF366	167465	hgsc.bcm.edu	37	chr5	71756670	71756670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctcctcgctctcctggggCtcggctttccggggcagcag	14	15	2	0	rs2278600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:71756670C>T	ENST00000318442.5	-	2	1144	c.654G>A	c.(652-654)gaG>gaA	p.E218E		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	218					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCTCCTGGGGCTCGGCTTTCC	0.647													C|||	1385	0.276558	0.3775	0.2046	5008	,	,		18159	0.4077		0.1332	False		,,,				2504	0.2035				p.E218E		Atlas-SNP	.											ZNF366,NS,carcinoma,-2,1	ZNF366	108	1	0			c.G654A						PASS	.	C		1601,2805	491.7+/-362.2	310,981,912	73	75	74		654	3.1	0.4	5	dbSNP_100	74	1198,7402	242.2+/-272.3	85,1028,3187	no	coding-synonymous	ZNF366	NM_152625.1		395,2009,4099	TT,TC,CC		13.9302,36.3368,21.5208		218/745	71756670	2799,10207	2203	4300	6503	SO:0001819	synonymous_variant	167465	exon2			CTGGGGCTCGGCT	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.654G>A	5.37:g.71756670C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	119	49	0.411765	NM_152625	Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	CCDS4015.1																																																																																			C|0.757;T|0.243	0.243	strong		0.647	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71756670	C	T	71756670	2	4	23	1	0	0	0	0	0	0	0	1	17867	796	28	2		2	ZNF366	5	71756670	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	261629	71756670	109158590	1336	17792										
FCHO2	115548	hgsc.bcm.edu	37	chr5	72348272	72348272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaataactcacatcacacaAtggcttctttggatgaatta	5	9	3	1	rs185435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:72348272A>G	ENST00000430046.2	+	13	1227	c.1111A>G	c.(1111-1113)Atg>Gtg	p.M371V	FCHO2_ENST00000341845.6_Missense_Mutation_p.M371V|FCHO2_ENST00000512348.1_Missense_Mutation_p.M338V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	371			M -> V (in dbSNP:rs185435).		clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ACATCACACAATGGCTTCTTT	0.353													a|||	1303	0.260184	0.4637	0.1686	5008	,	,		16879	0.1696		0.1332	False		,,,				2504	0.274				p.M371V		Atlas-SNP	.											.	FCHO2	96	.	0			c.A1111G						PASS	.	G	VAL/MET,VAL/MET	1515,2181		319,877,652	83	79	81		1012,1111	-1.4	1	5	dbSNP_79	81	1208,6984		96,1016,2984	yes	missense,missense	FCHO2	NM_001146032.1,NM_138782.2	21,21	415,1893,3636	GG,GA,AA		14.7461,40.9903,22.9055	benign,benign	338/778,371/811	72348272	2723,9165	1848	4096	5944	SO:0001583	missense	115548	exon13			CACACAATGGCTT	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1111A>G	5.37:g.72348272A>G	ENSP00000393776:p.Met371Val	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	214	213	0.995327	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	475	0.2174908424908425	214	0.4349593495934959	78	0.2154696132596685	91	0.1590909090909091	92	0.12137203166226913	a	7.694	0.691582	0.15039	0.409903	0.147461	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.16597	2.33;2.33;2.33	5.47	-1.4	0.08968	.	0.579933	0.19150	N	0.121462	T	0.00012	0.0000	L	0.34521	1.04	0.44652	P	0.0023680000000000367	B;B	0.16396	0.002;0.017	B;B	0.12156	0.004;0.007	T	0.48115	-0.9063	9	0.33141	T	0.24	-1.5884	6.281	0.21007	0.6173:0.1201:0.2627:0.0	rs185435;rs517724;rs60622989;rs185435	338;371	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	V	371;371;338	ENSP00000393776:M371V;ENSP00000344034:M371V;ENSP00000427296:M338V	ENSP00000344034:M371V	M	+	1	0	FCHO2	72384028	0.117000	0.22190	0.970000	0.41538	0.885000	0.51271	0.401000	0.20948	-0.486000	0.06744	-0.266000	0.10368	ATG	A|0.768;G|0.232	0.232	strong		0.353	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		G	72348272	A	G	72348272	3	3	23	1	0	0	0	0	1	0	0	0	5788	101	4	2	1161	2	FCHO2	5	72348272	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	591602	72348272	108566988	1337	17793										
UTP15	84135	hgsc.bcm.edu	37	chr5	72868447	72868447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttactctctggctcactggaTaggttggcattttaattttt	8	7	2	0	rs16870610	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:72868447T>C	ENST00000296792.4	+	7	1062	c.807T>C	c.(805-807)gaT>gaC	p.D269D	UTP15_ENST00000508491.1_Silent_p.D250D|UTP15_ENST00000543251.1_Silent_p.D79D	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	269					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		GCTCACTGGATAGGTTGGCat	0.348													T|||	331	0.0660942	0.0499	0.0173	5008	,	,		17274	0.12		0.0497	False		,,,				2504	0.0838				p.D269D		Atlas-SNP	.											.	UTP15	30	.	0			c.T807C						PASS	.	T		197,4209	122.5+/-159.9	5,187,2011	122	122	122		807	-1	1	5	dbSNP_123	122	377,8223	124.1+/-182.9	7,363,3930	no	coding-synonymous	UTP15	NM_032175.2		12,550,5941	CC,CT,TT		4.3837,4.4712,4.4133		269/519	72868447	574,12432	2203	4300	6503	SO:0001819	synonymous_variant	84135	exon7			ACTGGATAGGTTG	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.807T>C	5.37:g.72868447T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	55	23	0.418182	NM_032175	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	CCDS34186.1	139	0.06364468864468864	25	0.0508130081300813	8	0.022099447513812154	66	0.11538461538461539	40	0.052770448548812667	T	13.30	2.194860	0.38806	0.044712	0.043837	ENSG00000164338	ENST00000509005	.	.	.	5.79	-0.955	0.10356	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03587	-1.1022	4	.	.	.	.	11.0541	0.47907	0.0:0.689:0.0:0.311	rs16870610;rs16870610	.	.	.	T	296	.	.	I	+	2	0	UTP15	72904203	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	1.109000	0.31135	-0.119000	0.11830	0.533000	0.62120	ATA	T|0.945;C|0.055	0.055	strong		0.348	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		C	72868447	T	C	72868447	2	2	23	1	0	0	0	0	0	0	0	1	17094	1403	49	2		2	UTP15	5	72868447	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	520175	72868447	108046813	1338	17794										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73179672	73179672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcagcgtattacaaaataCcctgtcttggtggaaaggat	9	8	2	0	rs3749645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:73179672C>T	ENST00000426542.2	+	23	3038	c.3018C>T	c.(3016-3018)taC>taT	p.Y1006Y	ARHGEF28_ENST00000513042.2_Silent_p.Y1006Y|ARHGEF28_ENST00000296799.4_Silent_p.Y693Y|ARHGEF28_ENST00000545377.1_Silent_p.Y1006Y|ARHGEF28_ENST00000287898.5_Silent_p.Y1006Y|ARHGEF28_ENST00000512883.1_5'Flank|ARHGEF28_ENST00000437974.1_Silent_p.Y1006Y|ARHGEF28_ENST00000296794.6_Silent_p.Y1006Y			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1006	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TTACAAAATACCCTGTCTTGG	0.383													C|||	868	0.173323	0.1747	0.098	5008	,	,		17907	0.2639		0.1133	False		,,,				2504	0.1933				p.Y1006Y		Atlas-SNP	.											.	.	.	.	0			c.C3018T						PASS	.	C	,	613,3081		54,505,1288	51	51	51		3018,3018	4.9	1	5	dbSNP_107	51	938,7206		63,812,3197	no	coding-synonymous,coding-synonymous	RGNEF	NM_001080479.2,NM_001177693.1	,	117,1317,4485	TT,TC,CC		11.5177,16.5945,13.1019	,	1006/1732,1006/1706	73179672	1551,10287	1847	4072	5919	SO:0001819	synonymous_variant	64283	exon24			AAAATACCCTGTC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3018C>T	5.37:g.73179672C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	78	36	0.461538	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																			C|0.820;T|0.180	0.180	strong		0.383	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73179672	C	T	73179672	2	4	23	1	0	0	0	0	0	0	0	1	13283	518	18	2		2	RGNEF	5	73179672	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	311225	73179672	107735588	1339	17795										
RGNEF	64283	hgsc.bcm.edu	37	chr5	73207372	73207372	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcagatacttcctttccaTgaaagcagcaaggattcttg	7	10	2	2	rs1478453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:73207372T>A	ENST00000426542.2	+	34	4940	c.4920T>A	c.(4918-4920)caT>caA	p.H1640Q	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.H1327Q|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.H1596Q|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.H560Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.H1640Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.H1640Q			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1640	Interaction with microtubules. {ECO:0000250}.		H -> Q (in dbSNP:rs1478453). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TTCCTTTCCATGAAAGCAGCA	0.433													C|||	1514	0.302316	0.3775	0.2205	5008	,	,		21416	0.2242		0.4165	False		,,,				2504	0.2219				p.H1640Q		Atlas-SNP	.											.	.	.	.	0			c.T4920A						PASS	.	C	GLN/HIS,GLN/HIS	1490,2658		283,924,867	34	34	34		4920,4920	-1.8	0.2	5	dbSNP_88	34	3351,5079		686,1979,1550	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	24,24	969,2903,2417	AA,AT,TT		39.7509,35.9209,38.4878	benign,benign	1640/1732,1640/1706	73207372	4841,7737	2074	4215	6289	SO:0001583	missense	64283	exon35			TTTCCATGAAAGC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4920T>A	5.37:g.73207372T>A	ENSP00000412175:p.His1640Gln	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	126	64	0.507937	NM_001080479	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	693	0.3173076923076923	168	0.34146341463414637	94	0.2596685082872928	119	0.20804195804195805	312	0.41160949868073876	C	0.326	-0.959181	0.02267	0.359209	0.397509	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.28069	3.28;3.29;3.27;3.05;3.29;3.27;3.1;1.63	5.29	-1.84	0.07809	.	1.137660	0.07014	N	0.825584	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B;B	0.12013	0.001;0.001;0.003;0.005;0.003	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.003	T	0.44544	-0.9321	9	0.08599	T	0.76	.	0.8513	0.01173	0.1562:0.3484:0.2187:0.2768	rs1478453;rs17553541;rs52807010;rs57886667;rs1478453	1327;1640;1640;560;1640	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	Q	1640;1640;1640;1596;1640;1640;1327;560	ENSP00000296794:H1640Q;ENSP00000441913:H1640Q;ENSP00000441436:H1640Q;ENSP00000287898:H1596Q;ENSP00000411459:H1640Q;ENSP00000412175:H1640Q;ENSP00000296799:H1327Q;ENSP00000421081:H560Q	ENSP00000287898:H1596Q	H	+	3	2	RP11-428C6.1	73243128	0.000000	0.05858	0.192000	0.23308	0.155000	0.21991	-0.559000	0.05971	-1.238000	0.02535	-1.929000	0.00512	CAT	T|0.663;A|0.337	0.337	strong		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73207372	T	A	73207372	3	1	23	1	0	0	0	0	1	0	0	0	13283	1461	51	5	5054	5	RGNEF	5	73207372	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	27700	73207372	107707888	1340	17796										
HEXB	3074	hgsc.bcm.edu	37	chr5	73985215	73985215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgctgaattccaggctaAaacccaggttcagcaacttc	7	13	1	1	rs11556045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:73985215A>G	ENST00000261416.7	+	2	479	c.362A>G	c.(361-363)aAa>aGa	p.K121R	HEXB_ENST00000511181.1_5'UTR	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	121			K -> R (in dbSNP:rs11556045).		astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K121R(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCCAGGCTAAAACCCAGGTT	0.383													G|||	1115	0.222644	0.2693	0.2421	5008	,	,		20059	0.1667		0.1809	False		,,,				2504	0.2464				p.K121R	Melanoma(66;841 1270 13391 18706 27225)	Atlas-SNP	.											HEXB,NS,carcinoma,0,1	HEXB	34	1	1	Substitution - Missense(1)	stomach(1)	c.A362G						PASS	.	G	ARG/LYS	1141,3265	716.3+/-408.6	153,835,1215	175	174	174	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	362	-7.6	0	5	dbSNP_120	174	1452,7148	751.3+/-407.4	142,1168,2990	yes	missense	HEXB	NM_000521.3	26	295,2003,4205	GG,GA,AA		16.8837,25.8965,19.937	benign	121/557	73985215	2593,10413	2203	4300	6503	SO:0001583	missense	3074	exon2			AGGCTAAAACCCA	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.362A>G	5.37:g.73985215A>G	ENSP00000261416:p.Lys121Arg	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	210	95	0.452381	NM_000521		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	453	0.20741758241758243	136	0.2764227642276423	83	0.2292817679558011	96	0.16783216783216784	138	0.1820580474934037	G	3.616	-0.078595	0.07141	0.258965	0.168837	ENSG00000049860	ENST00000261416	D	0.88664	-2.41	5.83	-7.58	0.01313	Acetylhexosaminidase, subunit a/b (1);	1.785790	0.02227	N	0.064526	T	0.00012	0.0000	N	0.16708	0.43	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.48525	-0.9028	9	0.12103	T	0.63	2.2681	11.1512	0.48460	0.4827:0.2908:0.2265:0.0	rs11556045;rs56932933;rs11556045	121	P07686	HEXB_HUMAN	R	121	ENSP00000261416:K121R	ENSP00000261416:K121R	K	+	2	0	HEXB	74020971	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.913000	0.04042	-3.763000	0.00110	-3.424000	0.00037	AAA	A|0.792;G|0.208	0.208	strong		0.383	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		G	73985215	A	G	73985215	3	3	23	1	0	0	0	0	1	0	0	0	7074	14	1	2	368	2	HEXB	5	73985215	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	777843	73985215	106930045	1341	17797										
WDR41	55255	hgsc.bcm.edu	37	chr5	76728996	76728996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtcaccattctcctctaaTttttgaaataatcttaaact	2	9	4	1	rs72769029	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:76728996T>C	ENST00000296679.4	-	13	1719	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	WDR41_ENST00000512033.1_5'UTR|WDR41_ENST00000414719.2_Silent_p.K194K|WDR41_ENST00000507029.1_Silent_p.K393K	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	448						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCTCCTCTAATTTTTGAAATA	0.368													T|||	83	0.0165735	0.0015	0.0245	5008	,	,		17492	0.0		0.0338	False		,,,				2504	0.0307				p.K448K		Atlas-SNP	.											.	WDR41	29	.	0			c.A1344G						PASS	.	T		21,4383	27.2+/-55.0	0,21,2181	118	121	120		1344	-0.2	1	5	dbSNP_130	120	238,8362	96.8+/-158.5	5,228,4067	no	coding-synonymous	WDR41	NM_018268.2		5,249,6248	CC,CT,TT		2.7674,0.4768,1.9917		448/460	76728996	259,12745	2202	4300	6502	SO:0001819	synonymous_variant	55255	exon13			CTCTAATTTTTGA	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1344A>G	5.37:g.76728996T>C		Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	221	219	0.99095	NM_018268	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Silent	SNP	ENST00000296679.4	37	CCDS4038.1																																																																																			T|0.979;C|0.021	0.021	strong		0.368	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		C	76728996	T	C	76728996	2	2	23	1	0	0	0	0	0	0	0	1	17291	1490	52	2		2	WDR41	5	76728996	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2743781	76728996	104186264	1342	17798										
ARSB	411	hgsc.bcm.edu	37	chr5	78135201	78135201	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgaagagtccacgaagttCgggtcaatattatgcagcag	13	7	1	2	rs25413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:78135201C>T	ENST00000264914.4	-	6	1727	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ARSB_ENST00000565165.1_Silent_p.P397P|ARSB_ENST00000396151.3_Silent_p.P397P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCACGAAGTTCGGGTCAATAT	0.433													C|||	1298	0.259185	0.5628	0.1513	5008	,	,		19055	0.0486		0.1799	False		,,,				2504	0.2239				p.P397P	Melanoma(169;563 1968 25780 26156 52266)	Atlas-SNP	.											ARSB,NS,carcinoma,-1,1	ARSB	47	1	0			c.G1191A						PASS	.	C	,	2188,2218	586.5+/-386.5	546,1096,561	139	137	138		1191,1191	-8.9	0	5	dbSNP_71	138	1607,6993	298.3+/-303.9	153,1301,2846	no	coding-synonymous,coding-synonymous	ARSB	NM_000046.3,NM_198709.2	,	699,2397,3407	TT,TC,CC		18.686,49.6596,29.1788	,	397/534,397/414	78135201	3795,9211	2203	4300	6503	SO:0001819	synonymous_variant	411	exon7			GAAGTTCGGGTCA	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1191G>A	5.37:g.78135201C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	182	103	0.565934	NM_198709	B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	CCDS4043.1																																																																																			C|0.727;T|0.273	0.273	strong		0.433	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		T	78135201	C	T	78135201	2	4	23	1	0	0	0	0	0	0	0	1	988	871	31	1		1	ARSB	5	78135201	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1406205	78135201	102780059	1343	17799										
JMY	133746	hgsc.bcm.edu	37	chr5	78610361	78610361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttacctctgaactgcctccCactatatctcttccactttt	3	15	2	1	rs61751239	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:78610361C>T	ENST00000396137.4	+	9	2808	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	782	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P428P(1)|p.P782P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AACTGCCTCCCACTATATCTC	0.473													C|||	47	0.00938498	0.0008	0.0202	5008	,	,		15320	0.0		0.0298	False		,,,				2504	0.002				p.P782P		Atlas-SNP	.											.	JMY	82	.	2	Substitution - coding silent(2)	lung(2)	c.C2346T						PASS	.	C		17,4049		0,17,2016	201	204	203		2346	3.2	0.5	5	dbSNP_129	203	239,8145		3,233,3956	no	coding-synonymous	JMY	NM_152405.4		3,250,5972	TT,TC,CC		2.8507,0.4181,2.0562		782/989	78610361	256,12194	2033	4192	6225	SO:0001819	synonymous_variant	133746	exon9			GCCTCCCACTATA	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2346C>T	5.37:g.78610361C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	235	110	0.468085	NM_152405	A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	CCDS4047.3																																																																																			C|0.983;T|0.017	0.017	strong		0.473	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		T	78610361	C	T	78610361	2	4	23	1	0	0	0	0	0	0	0	1	7957	581	21	2		2	JMY	5	78610361	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	475160	78610361	102304899	1344	17800										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79025157	79025157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcatatactggcatttatgAtaaagcaagaaaaaagaaga	8	4	1	4	rs10942901	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79025157A>G	ENST00000446378.2	+	2	600	c.569A>G	c.(568-570)gAt>gGt	p.D190G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	190			D -> G (in dbSNP:rs10942901). {ECO:0000269|PubMed:17974005}.		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCATTTATGATAAAGCAAGA	0.393													A|||	835	0.166733	0.1036	0.1902	5008	,	,		17856	0.2202		0.1471	False		,,,				2504	0.2004				p.D190G		Atlas-SNP	.											.	CMYA5	643	.	0			c.A569G						PASS	.	A	GLY/ASP	388,3280		23,342,1469	45	44	44		569	4.9	0	5	dbSNP_120	44	1184,7008		98,988,3010	yes	missense	CMYA5	NM_153610.3	94	121,1330,4479	GG,GA,AA		14.4531,10.578,13.2546	probably-damaging	190/4070	79025157	1572,10288	1834	4096	5930	SO:0001583	missense	202333	exon2			TTTATGATAAAGC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.569A>G	5.37:g.79025157A>G	ENSP00000394770:p.Asp190Gly	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	205	110	0.536585	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	341	0.15613553113553114	48	0.0975609756097561	67	0.1850828729281768	114	0.1993006993006993	112	0.14775725593667546	A	11.26	1.587130	0.28268	0.10578	0.144531	ENSG00000164309	ENST00000446378	T	0.65549	-0.16	6.06	4.88	0.63580	.	0.255650	0.28082	N	0.016672	T	0.00073	0.0002	L	0.32530	0.975	0.80722	P	0.0	P	0.48407	0.91	P	0.45099	0.469	T	0.25222	-1.0138	9	0.87932	D	0	.	3.4618	0.07536	0.6482:0.1413:0.0751:0.1354	rs10942901;rs10942901	190	Q8N3K9	CMYA5_HUMAN	G	190	ENSP00000394770:D190G	ENSP00000394770:D190G	D	+	2	0	CMYA5	79060913	0.975000	0.34042	0.020000	0.16555	0.282000	0.26991	1.489000	0.35562	1.073000	0.40885	0.533000	0.62120	GAT	A|0.832;G|0.162	0.162	strong		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79025157	A	G	79025157	3	3	23	1	0	0	0	0	1	0	0	0	3590	333	12	2	575	2	CMYA5	5	79025157	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	414796	79025157	101890103	1345	17801										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79041057	79041057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttcaggaaaactgtagtAaaaatgagaaaaggctagaa	10	3	1	2	rs12514461	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79041057A>G	ENST00000446378.2	+	4	10778	c.10747A>G	c.(10747-10749)Aaa>Gaa	p.K3583E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3583	B-box coiled-coil; BBC.		K -> E (in dbSNP:rs12514461). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACTGTAGTAAAAATGAGAA	0.353													A|||	499	0.0996406	0.0393	0.1744	5008	,	,		18473	0.0833		0.1252	False		,,,				2504	0.1186				p.K3583E		Atlas-SNP	.											.	CMYA5	643	.	0			c.A10747G						PASS	.	A	GLU/LYS	176,3482		8,160,1661	30	30	30		10747	5.4	1	5	dbSNP_120	30	903,7257		57,789,3234	yes	missense	CMYA5	NM_153610.3	56	65,949,4895	GG,GA,AA		11.0662,4.8114,9.1301	benign	3583/4070	79041057	1079,10739	1829	4080	5909	SO:0001583	missense	202333	exon4			TGTAGTAAAAATG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10747A>G	5.37:g.79041057A>G	ENSP00000394770:p.Lys3583Glu	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	153	78	0.509804	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	222	0.10164835164835165	20	0.04065040650406504	58	0.16022099447513813	45	0.07867132867132867	99	0.13060686015831136	A	14.25	2.478239	0.44044	0.048114	0.110662	ENSG00000164309	ENST00000446378	T	0.26518	1.73	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000044	T	0.00144	0.0004	L	0.61036	1.89	0.28591	P	0.9096466	D	0.57899	0.981	P	0.53490	0.727	T	0.13202	-1.0518	9	0.59425	D	0.04	.	8.2949	0.31980	0.8513:0.0:0.1487:0.0	rs12514461;rs52825873;rs58659811;rs12514461	3583	Q8N3K9	CMYA5_HUMAN	E	3583	ENSP00000394770:K3583E	ENSP00000394770:K3583E	K	+	1	0	CMYA5	79076813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.280000	0.58959	2.179000	0.69175	0.533000	0.62120	AAA	A|0.904;G|0.096	0.096	strong		0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79041057	A	G	79041057	3	3	23	1	0	0	0	0	1	0	0	0	3590	363	13	2	10761	2	CMYA5	5	79041057	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	15900	79041057	101874203	1346	17802										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79095417	79095417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctggggatagagccccCggattctgtaaggcacaagt	13	11	1	1	rs10043986	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79095417C>T	ENST00000446378.2	+	13	12219	c.12188C>T	c.(12187-12189)cCg>cTg	p.P4063L	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4063	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		P -> L (in dbSNP:rs10043986). {ECO:0000269|PubMed:17974005}.		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATAGAGCCCCCGGATTCTGTA	0.483													C|||	234	0.0467252	0.0038	0.0692	5008	,	,		17507	0.0		0.1262	False		,,,				2504	0.0552				p.P4063L		Atlas-SNP	.											.	CMYA5	643	.	0			c.C12188T						PASS	.	C	LEU/PRO	94,3600		1,92,1754	52	51	51		12188	6	1	5	dbSNP_119	51	978,7216		56,866,3175	yes	missense	CMYA5	NM_153610.3	98	57,958,4929	TT,TC,CC		11.9356,2.5447,9.0175	possibly-damaging	4063/4070	79095417	1072,10816	1847	4097	5944	SO:0001583	missense	202333	exon13			AGCCCCCGGATTC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.12188C>T	5.37:g.79095417C>T	ENSP00000394770:p.Pro4063Leu	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	137	72	0.525547	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	128	0.05860805860805861	3	0.006097560975609756	32	0.08839779005524862	0	0.0	93	0.12269129287598944	C	34	5.327759	0.95733	0.025447	0.119356	ENSG00000164309	ENST00000446378	D	0.86164	-2.08	5.99	5.99	0.97316	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.27027	0.0662	M	0.79693	2.465	0.09310	P	0.999999999560952	D	0.89917	1.0	D	0.91635	0.999	T	0.68116	-0.5494	8	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	rs10043986;rs52815654;rs60366119;rs10043986	4063	Q8N3K9	CMYA5_HUMAN	L	4063	ENSP00000394770:P4063L	ENSP00000394770:P4063L	P	+	2	0	CMYA5	79131173	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	6.620000	0.74224	2.840000	0.97914	0.655000	0.94253	CCG	C|0.938;T|0.062	0.062	strong		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79095417	C	T	79095417	3	4	23	1	0	0	0	0	1	0	0	0	3590	652	23	1	12238	1	CMYA5	5	79095417	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	54360	79095417	101819843	1347	17803										
MTX3	345778	hgsc.bcm.edu	37	chr5	79282798	79282798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agactaagcctaaaataactGctcaggatgtcatcacaaaa	6	9	3	1	rs9293796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79282798G>C	ENST00000512528.1	-	7	734	c.714C>G	c.(712-714)agC>agG	p.S238R	MTX3_ENST00000509852.1_Missense_Mutation_p.S238R|MTX3_ENST00000512560.1_Missense_Mutation_p.S177R			Q5HYI7	MTX3_HUMAN	metaxin 3	238			S -> R (in dbSNP:rs9293796).		protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TAAAATAACTGCTCAGGATGT	0.388													G|||	346	0.0690895	0.0204	0.0836	5008	,	,		16931	0.0079		0.1421	False		,,,				2504	0.1125				p.S238R		Atlas-SNP	.											.	MTX3	29	.	0			c.C714G						PASS	.	G	ARG/SER,ARG/SER	157,3587		5,147,1720	109	108	109		714,531	0.6	0.6	5	dbSNP_119	109	1193,7017		84,1025,2996	yes	missense,missense	MTX3	NM_001010891.4,NM_001167741.1	110,110	89,1172,4716	CC,CG,GG		14.5311,4.1934,11.2933	benign,benign	238/249,177/252	79282798	1350,10604	1872	4105	5977	SO:0001583	missense	345778	exon7			ATAACTGCTCAGG	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.714C>G	5.37:g.79282798G>C	ENSP00000424798:p.Ser238Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	111	55	0.495495	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37		161	0.07371794871794872	7	0.014227642276422764	40	0.11049723756906077	4	0.006993006993006993	110	0.14511873350923482	G	11.50	1.657008	0.29425	0.041934	0.145311	ENSG00000177034	ENST00000512560;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.47869	0.83;0.83;0.83	5.92	0.553	0.17235	Glutathione S-transferase, C-terminal-like (1);	.	.	.	.	T	0.00144	0.0004	N	0.25245	0.725	0.80722	P	0.0	B;B	0.17038	0.02;0.013	B;B	0.19946	0.023;0.027	T	0.15093	-1.0449	8	0.22706	T	0.39	.	5.7058	0.17907	0.4608:0.1366:0.4026:0.0	rs9293796;rs17196986;rs52831730;rs9293796	238;238	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	R	177;238;238;238	ENSP00000423600:S177R;ENSP00000423302:S238R;ENSP00000424798:S238R	ENSP00000392181:S238R	S	-	3	2	MTX3	79318554	0.780000	0.28664	0.556000	0.28293	0.977000	0.68977	1.525000	0.35953	0.416000	0.25844	0.467000	0.42956	AGC	G|0.925;C|0.075	0.075	strong		0.388	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		C	79282798	G	C	79282798	3	2	23	1	0	0	0	0	1	0	0	0	9969	1310	46	4	236	4	MTX3	5	79282798	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	187381	79282798	101632462	1348	17804										
MTX3	345778	hgsc.bcm.edu	37	chr5	79286042	79286042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccatgtcgtcttcagttgTcaaaattggtacatcgccta	7	10	3	0	rs371364933		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79286042T>A	ENST00000512528.1	-	3	189	c.169A>T	c.(169-171)Aca>Tca	p.T57S	MTX3_ENST00000509852.1_Missense_Mutation_p.T57S|MTX3_ENST00000512560.1_5'UTR			Q5HYI7	MTX3_HUMAN	metaxin 3	57					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TCTTCAGTTGTCAAAATTGGT	0.358																																					p.T57S		Atlas-SNP	.											.	MTX3	29	.	0			c.A169T						PASS	.	T	SER/THR,	0,3672		0,0,1836	86	78	81		169,	4.7	1	5		81	2,8158		0,2,4078	no	missense,utr-5	MTX3	NM_001010891.4,NM_001167741.1	58,	0,2,5914	AA,AT,TT		0.0245,0.0,0.0169	benign,	57/249,	79286042	2,11830	1836	4080	5916	SO:0001583	missense	345778	exon3			CAGTTGTCAAAAT	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.169A>T	5.37:g.79286042T>A	ENSP00000424798:p.Thr57Ser	Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	349	162	0.464183	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37		.	.	.	.	.	.	.	.	.	.	T	8.983	0.975725	0.18736	0.0	2.45E-4	ENSG00000177034	ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T	0.42513	0.97;0.97	5.86	4.69	0.59074	.	0.541563	0.21589	N	0.072127	T	0.30885	0.0779	L	0.35644	1.08	0.28755	N	0.901208	B;B	0.10296	0.003;0.001	B;B	0.09377	0.002;0.004	T	0.18116	-1.0347	10	0.33141	T	0.24	-2.1085	8.1501	0.31134	0.1203:0.0663:0.0:0.8134	.	57;57	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	S	57	ENSP00000423302:T57S;ENSP00000424798:T57S	ENSP00000331672:T57S	T	-	1	0	MTX3	79321798	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.676000	0.37565	1.036000	0.39998	-0.290000	0.09829	ACA	.	.	weak		0.358	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		A	79286042	T	A	79286042	3	1	23	1	0	0	0	0	1	0	0	0	9969	1667	58	5	797	5	MTX3	5	79286042	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3244	79286042	101629218	1349	17805										
THBS4	7060	hgsc.bcm.edu	37	chr5	79351852	79351852	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggactttccagaggaagccAcaggtaggaacccacaaacc	10	12	0	1	rs71594659|rs438042	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79351852A>T	ENST00000350881.2	+	3	727	c.537A>T	c.(535-537)ccA>ccT	p.P179P	THBS4_ENST00000511733.1_Silent_p.P88P|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	179	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P179P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGAAGCCACAGGTAGGAA	0.537													A|||	2852	0.569489	0.6536	0.5476	5008	,	,		17271	0.5139		0.5527	False		,,,				2504	0.546				p.P179P		Atlas-SNP	.											THBS4,NS,carcinoma,0,1	THBS4	82	1	1	Substitution - coding silent(1)	stomach(1)	c.A537T						PASS	.	A		2744,1660		894,956,352	20	24	23		537	-3.2	1	5	dbSNP_80	23	4236,4362		1063,2110,1126	no	coding-synonymous	THBS4	NM_003248.4		1957,3066,1478	TT,TA,AA		49.2673,37.693,46.316		179/962	79351852	6980,6022	2202	4299	6501	SO:0001819	synonymous_variant	7060	exon3			GAAGCCACAGGTA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.537A>T	5.37:g.79351852A>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																			ACAGGTAGG|0.500;TCAGGTAAA|0.500	.	alt		0.537	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79351852	A	T	79351852	2	4	23	1	0	0	0	0	0	0	0	1	15853	146	6	5		5	THBS4	5	79351852	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	65810	79351852	101563408	1350	17806										
THBS4	7060	hgsc.bcm.edu	37	chr5	79361265	79361265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgagtgtcgaaatggaGcgtgcgttcccaactcgatc	12	9	0	2	rs1866389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79361265G>C	ENST00000350881.2	+	9	1349	c.1159G>C	c.(1159-1161)Gcg>Ccg	p.A387P	THBS4_ENST00000511733.1_Missense_Mutation_p.A296P|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	387	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> P (gain of function mutation; resulting in a pro-atherogenic phenotype; dbSNP:rs1866389). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.4}.		behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCGAAATGGAGCGTGCGTTCC	0.378													G|||	630	0.125799	0.0688	0.1311	5008	,	,		18658	0.0506		0.2326	False		,,,				2504	0.1667				p.A387P		Atlas-SNP	.											.	THBS4	82	.	0			c.G1159C	GRCh37	CM054868	THBS4	M	rs1866389	PASS	.	G	PRO/ALA	438,3968	212.8+/-232.6	25,388,1790	225	192	203		1159	5.2	1	5	dbSNP_92	203	1903,6697	339.8+/-323.3	188,1527,2585	yes	missense	THBS4	NM_003248.4	27	213,1915,4375	CC,CG,GG		22.1279,9.941,17.9994	benign	387/962	79361265	2341,10665	2203	4300	6503	SO:0001583	missense	7060	exon9			AATGGAGCGTGCG		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1159G>C	5.37:g.79361265G>C	ENSP00000339730:p.Ala387Pro	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_003248	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	297	0.13598901098901098	31	0.06300813008130081	57	0.1574585635359116	34	0.05944055944055944	175	0.23087071240105542	G	14.44	2.535439	0.45176	0.09941	0.221279	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.92249	-3.0;-3.0	5.19	5.19	0.71726	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.105026	0.64402	D	0.000005	T	0.00109	0.0003	N	0.01003	-1.06	0.29022	P	0.886245	P	0.36753	0.568	B	0.41271	0.352	T	0.48525	-0.9028	9	0.07813	T	0.8	-12.6373	15.9889	0.80183	0.0:0.1342:0.8658:0.0	rs1866389;rs2228290;rs17257691;rs17884905;rs1866389	387	P35443	TSP4_HUMAN	P	387;296	ENSP00000339730:A387P;ENSP00000422298:A296P	ENSP00000339730:A387P	A	+	1	0	THBS4	79397021	0.995000	0.38212	0.989000	0.46669	0.026000	0.11368	2.875000	0.48491	2.711000	0.92665	0.655000	0.94253	GCG	G|0.840;C|0.160	0.160	strong		0.378	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			C	79361265	G	C	79361265	3	2	23	1	0	0	0	0	1	0	0	0	15853	971	34	4	1193	4	THBS4	5	79361265	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9413	79361265	101553995	1351	17807										
FAM151B	167555	hgsc.bcm.edu	37	chr5	79817898	79817898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgtaacgttccctgtcagAgcagcattagtcaggcagtc	10	12	2	1	rs2431224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79817898A>G	ENST00000282226.4	+	5	767	c.612A>G	c.(610-612)agA>agG	p.R204R	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	204										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TCCCTGTCAGAGCAGCATTAG	0.348													A|||	152	0.0303514	0.0038	0.0461	5008	,	,		18692	0.003		0.0636	False		,,,				2504	0.0491				p.R204R		Atlas-SNP	.											.	FAM151B	25	.	0			c.A612G						PASS	.	A		82,4324	70.3+/-108.2	1,80,2122	163	144	150		612	0	1	5	dbSNP_100	150	673,7927	168.7+/-220.2	24,625,3651	no	coding-synonymous	FAM151B	NM_205548.2		25,705,5773	GG,GA,AA		7.8256,1.8611,5.805		204/277	79817898	755,12251	2203	4300	6503	SO:0001819	synonymous_variant	167555	exon5			TGTCAGAGCAGCA		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.612A>G	5.37:g.79817898A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	119	63	0.529412	NM_205548	A2RRE4	Silent	SNP	ENST00000282226.4	37	CCDS4051.1																																																																																			A|0.954;G|0.046	0.046	strong		0.348	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548		G	79817898	A	G	79817898	2	3	23	1	0	0	0	0	0	0	0	1	5459	301	11	3		3	FAM151B	5	79817898	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	456633	79817898	101097362	1352	17808										
MSH3	4437	hgsc.bcm.edu	37	chr5	79966029	79966029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaaaagcatctatacgccGctagaattacaatacataga	5	10	1	2	rs1805355	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:79966029G>A	ENST00000265081.6	+	4	773	c.693G>A	c.(691-693)ccG>ccA	p.P231P		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	231	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTATACGCCGCTAGAATTAC	0.378								Mismatch excision repair (MMR)					G|||	916	0.182907	0.1974	0.2651	5008	,	,		16920	0.3383		0.0537	False		,,,				2504	0.0777				p.P231P	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.G693A						PASS	.	G		797,3609	319.3+/-296.1	66,665,1472	133	131	131		693	-6.6	0	5	dbSNP_92	131	524,8076	146.6+/-202.2	14,496,3790	no	coding-synonymous	MSH3	NM_002439.3		80,1161,5262	AA,AG,GG		6.093,18.089,10.1569		231/1138	79966029	1321,11685	2203	4300	6503	SO:0001819	synonymous_variant	4437	exon4			TACGCCGCTAGAA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.693G>A	5.37:g.79966029G>A		Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	251	129	0.513944	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			G|0.817;A|0.183	0.183	strong		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		A	79966029	G	A	79966029	2	1	23	1	0	0	0	0	0	0	0	1	9871	1074	38	1		1	MSH3	5	79966029	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	148131	79966029	100949231	1353	17809										
ACOT12	134526	hgsc.bcm.edu	37	chr5	80631642	80631642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagacaagagacgataagCcaaatgtgctggacttccca	10	10	1	2	rs10371	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:80631642C>T	ENST00000307624.3	-	12	1235	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	403	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.		A -> T (in dbSNP:rs10371).		acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGACGATAAGCCAAATGTGCT	0.343													C|||	602	0.120208	0.1815	0.134	5008	,	,		17733	0.002		0.159	False		,,,				2504	0.1094				p.A403T		Atlas-SNP	.											.	ACOT12	57	.	0			c.G1207A						PASS	.	C	THR/ALA	849,3557	333.9+/-303.2	73,703,1427	83	92	89		1207	4.3	0.2	5	dbSNP_52	89	1345,7255	262.5+/-284.5	100,1145,3055	yes	missense	ACOT12	NM_130767.2	58	173,1848,4482	TT,TC,CC		15.6395,19.2692,16.8691	benign	403/556	80631642	2194,10812	2203	4300	6503	SO:0001583	missense	134526	exon12			GATAAGCCAAATG	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1207G>A	5.37:g.80631642C>T	ENSP00000303246:p.Ala403Thr	Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	204	98	0.480392	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	253	0.11584249084249085	83	0.16869918699186992	51	0.1408839779005525	2	0.0034965034965034965	117	0.15435356200527706	C	7.282	0.609265	0.14066	0.192692	0.156395	ENSG00000172497	ENST00000307624	T	0.31247	1.5	5.24	4.34	0.51931	Lipid-binding START (2);START-like domain (1);	0.256266	0.37437	N	0.002099	T	0.00039	0.0001	N	0.25890	0.77	0.27235	P	0.9592961	B	0.21071	0.051	B	0.27170	0.077	T	0.17561	-1.0365	9	0.34782	T	0.22	5.4069	11.1453	0.48426	0.0:0.9049:0.0:0.0951	rs10371;rs1132753;rs3193840;rs52811470;rs56771708;rs10371	403	Q8WYK0	ACO12_HUMAN	T	403	ENSP00000303246:A403T	ENSP00000303246:A403T	A	-	1	0	ACOT12	80667398	0.913000	0.31002	0.208000	0.23602	0.034000	0.12701	1.926000	0.40084	1.275000	0.44379	0.561000	0.74099	GCT	C|0.852;T|0.148	0.148	strong		0.343	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		T	80631642	C	T	80631642	3	4	23	1	0	0	0	0	1	0	0	0	150	739	26	2	476	2	ACOT12	5	80631642	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	665613	80631642	100283618	1354	17810										
XRCC4	7518	hgsc.bcm.edu	37	chr5	82648943	82648943	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctattttgattttcttttcaGttctaggcctgattcttcac	5	9	5	2	rs1805377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:82648943G>A	ENST00000511817.1	+	8	973		c.e8-1		XRCC4_ENST00000396027.4_Intron|XRCC4_ENST00000282268.3_Intron|XRCC4_ENST00000338635.6_Splice_Site			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4						cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTCTTTTCAGTTCTAGGCCT	0.343								Non-homologous end-joining					A|||	1879	0.3752	0.4758	0.3329	5008	,	,		16220	0.7044		0.1402	False		,,,				2504	0.1718				.		Atlas-SNP	.											.	XRCC4	37	.	0			c.894-1G>A	GRCh37	CS075240	XRCC4	S	rs1805377	PASS	.	A	,,	1933,2469	591.6+/-387.6	422,1089,690	76	86	82		,,	-0.1	0.7	5	dbSNP_92	82	1052,7548	764.1+/-407.6	64,924,3312	yes	intron,splice-3,intron	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	,,	486,2013,4002	AA,AG,GG		12.2326,43.9119,22.958	,,	,,	82648943	2985,10017	2201	4300	6501	SO:0001630	splice_region_variant	7518	exon8			TTTTCAGTTCTAG	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.894-1G>A	5.37:g.82648943G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	164	73	0.445122	NM_022406	A8K3X4|Q9BS72|Q9UP94	Splice_Site	SNP	ENST00000511817.1	37	CCDS4059.1	858	0.39285714285714285	239	0.48577235772357724	115	0.31767955801104975	394	0.6888111888111889	110	0.14511873350923482	A	0.718	-0.784496	0.02907	0.439119	0.122326	ENSG00000152422	ENST00000338635;ENST00000511817;ENST00000514538	.	.	.	5.51	-0.0652	0.13769	.	.	.	.	.	.	.	.	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3151	0.07030	0.3839:0.0:0.2655:0.3506	rs1805377;rs3777014;rs61086000;rs1805377	.	.	.	.	-1	.	.	.	+	.	.	XRCC4	82684699	0.003000	0.15002	0.723000	0.30687	0.002000	0.02628	-0.958000	0.03857	-0.153000	0.11137	-2.023000	0.00429	.	G|0.679;A|0.321	0.321	strong		0.343	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	Intron	A	82648943	G	A	82648943	5	1	23	1	0	0	0	0	0	0	1	0	17452	1043	36	2	919	2	XRCC4	5	82648943	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2017301	82648943	98266317	1355	17811										
XRCC4	7518	hgsc.bcm.edu	37	chr5	82648977	82648977	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcactacctgagacgtcTaaaaaggagcacatctcagc	7	12	4	1	rs1056503	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:82648977T>G	ENST00000511817.1	+	8	1007	c.927T>G	c.(925-927)tcT>tcG	p.S309S	XRCC4_ENST00000396027.4_Silent_p.S307S|XRCC4_ENST00000282268.3_Silent_p.S307S|XRCC4_ENST00000338635.6_Silent_p.S309S			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	309					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CTGAGACGTCTAAAAAGGAGC	0.338								Non-homologous end-joining					G|||	1881	0.375599	0.4758	0.3329	5008	,	,		17355	0.7063		0.1402	False		,,,				2504	0.1718				p.S309S		Atlas-SNP	.											.	XRCC4	37	.	0			c.T927G						PASS	.	G	,,	1942,2464	617.9+/-393.1	424,1094,685	113	123	120		921,927,921	1.1	0	5	dbSNP_86	120	1055,7543	768.5+/-407.6	63,929,3307	no	coding-synonymous,coding-synonymous,coding-synonymous	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	,,	487,2023,3992	GG,GT,TT		12.2703,44.0763,23.0468	,,	307/335,309/337,307/335	82648977	2997,10007	2203	4299	6502	SO:0001819	synonymous_variant	7518	exon8			GACGTCTAAAAAG	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.927T>G	5.37:g.82648977T>G		Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	252	115	0.456349	NM_022406	A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	CCDS4059.1																																																																																			T|0.685;G|0.315	0.315	strong		0.338	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		G	82648977	T	G	82648977	2	3	23	1	0	0	0	0	0	0	0	1	17452	1509	53	5		5	XRCC4	5	82648977	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	34	82648977	98266283	1356	17812										
VCAN	1462	hgsc.bcm.edu	37	chr5	82834299	82834299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggctgaccactctcccacGtagtcctgcctctgtcttta	8	15	3	1	rs188703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:82834299G>A	ENST00000265077.3	+	8	6042	c.5477G>A	c.(5476-5478)cGt>cAt	p.R1826H	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R839H|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1826	GAG-beta.		R -> H (in dbSNP:rs188703).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTCTCCCACGTAGTCCTGCC	0.483													G|||	1795	0.358427	0.3449	0.4611	5008	,	,		16825	0.3234		0.4254	False		,,,				2504	0.271				p.R1826H		Atlas-SNP	.											VCAN,NS,carcinoma,-1,1	VCAN	498	1	0			c.G5477A						PASS	.	G	,HIS/ARG,,HIS/ARG	1549,2857	445.5+/-347.7	261,1027,915	69	77	74		,2516,,5477	0.2	0	5	dbSNP_79	74	3441,5159	478.3+/-369.9	704,2033,1563	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,29,,29	965,3060,2478	AA,AG,GG		40.0116,35.1566,38.3669	,benign,,benign	,839/2410,,1826/3397	82834299	4990,8016	2203	4300	6503	SO:0001583	missense	1462	exon8			TCCCACGTAGTCC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5477G>A	5.37:g.82834299G>A	ENSP00000265077:p.Arg1826His	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	85	43	0.505882	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	832	0.38095238095238093	139	0.28252032520325204	169	0.46685082872928174	203	0.3548951048951049	321	0.4234828496042216	G	12.50	1.956712	0.34565	0.351566	0.400116	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84660	-1.85;-1.88;3.27	5.82	0.253	0.15551	.	0.983187	0.08317	N	0.964443	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.31931	0.347;0.235	B;B	0.27170	0.077;0.035	T	0.21415	-1.0246	9	0.49607	T	0.09	.	2.0501	0.03569	0.1803:0.1061:0.4634:0.2501	rs188703;rs309558;rs479344;rs52807291;rs60541692;rs188703	839;1826	P13611-2;P13611	.;CSPG2_HUMAN	H	1826;839;839	ENSP00000265077:R1826H;ENSP00000340062:R839H;ENSP00000426251:R839H	ENSP00000265077:R1826H	R	+	2	0	VCAN	82870055	0.003000	0.15002	0.001000	0.08648	0.027000	0.11550	0.786000	0.26844	0.328000	0.23435	0.655000	0.94253	CGT	G|0.623;A|0.377	0.377	strong		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82834299	G	A	82834299	3	1	23	1	0	0	0	0	1	0	0	0	17135	1145	40	1	5503	1	VCAN	5	82834299	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	185322	82834299	98080961	1357	17813										
VCAN	1462	hgsc.bcm.edu	37	chr5	82837631	82837631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatttccaaaacaaaaccGatggtcaagtttctggagaa	8	7	2	2	rs160277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:82837631G>T	ENST00000265077.3	+	8	9374	c.8809G>T	c.(8809-8811)Gat>Tat	p.D2937Y	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.D1950Y|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2937	GAG-beta.		D -> Y (in dbSNP:rs160277).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACAAAACCGATGGTCAAGT	0.398													G|||	1806	0.360623	0.357	0.4597	5008	,	,		18764	0.3234		0.4254	False		,,,				2504	0.2669				p.D2937Y		Atlas-SNP	.											.	VCAN	498	.	0			c.G8809T						PASS	.	G	,TYR/ASP,,TYR/ASP	1625,2781	482.4+/-359.4	296,1033,874	80	85	83		,5848,,8809	0.8	0	5	dbSNP_79	83	3433,5167	503.3+/-375.9	700,2033,1567	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,160,,160	996,3066,2441	TT,TG,GG		39.9186,36.8815,38.8897	,possibly-damaging,,possibly-damaging	,1950/2410,,2937/3397	82837631	5058,7948	2203	4300	6503	SO:0001583	missense	1462	exon8			AAAACCGATGGTC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8809G>T	5.37:g.82837631G>T	ENSP00000265077:p.Asp2937Tyr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	77	40	0.519481	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	837	0.38324175824175827	145	0.29471544715447157	168	0.46408839779005523	203	0.3548951048951049	321	0.4234828496042216	G	12.91	2.079124	0.36662	0.368815	0.399186	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.18338	2.22;2.22	5.99	0.819	0.18785	.	1.042050	0.07483	N	0.904317	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	D;D	0.60160	0.987;0.979	P;P	0.52672	0.706;0.607	T	0.46748	-0.9169	9	0.59425	D	0.04	.	2.3966	0.04391	0.5352:0.1193:0.2293:0.1161	rs160277;rs310482;rs496670;rs3734093;rs52794243;rs60765899;rs160277	1950;2937	P13611-2;P13611	.;CSPG2_HUMAN	Y	2937;1950	ENSP00000265077:D2937Y;ENSP00000340062:D1950Y	ENSP00000265077:D2937Y	D	+	1	0	VCAN	82873387	0.001000	0.12720	0.001000	0.08648	0.083000	0.17756	0.638000	0.24674	0.540000	0.28808	-0.312000	0.09012	GAT	G|0.618;T|0.382	0.382	strong		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82837631	G	T	82837631	3	4	23	1	0	0	0	0	1	0	0	0	17135	1058	37	4	8835	4	VCAN	5	82837631	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3332	82837631	98077629	1358	17814										
GPR98	84059	hgsc.bcm.edu	37	chr5	89943571	89943571	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttttatataatcctcttGaattcaacaggtaagtaaat	4	8	2	1	rs2366777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:89943571G>T	ENST00000405460.2	+	17	3375	c.3279G>T	c.(3277-3279)ttG>ttT	p.L1093F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1093	Calx-beta 8. {ECO:0000255}.		L -> F (in dbSNP:rs2366777). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATCCTCTTGAATTCAACAG	0.368													T|||	4058	0.810304	0.9539	0.8069	5008	,	,		18991	0.8323		0.667	False		,,,				2504	0.7434				p.L1093F		Atlas-SNP	.											.	GPR98	605	.	0			c.G3279T						PASS	.	T	PHE/LEU	3338,322		1525,288,17	82	82	82		3279	2.1	1	5	dbSNP_100	82	5258,2898		1680,1898,500	yes	missense	GPR98	NM_032119.3	22	3205,2186,517	TT,TG,GG		35.5321,8.7978,27.2512	benign	1093/6307	89943571	8596,3220	1830	4078	5908	SO:0001583	missense	84059	exon17			CCTCTTGAATTCA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3279G>T	5.37:g.89943571G>T	ENSP00000384582:p.Leu1093Phe	Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	34	34	1	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	1741|1741	0.7971611721611722|0.7971611721611722	472|472	0.959349593495935|0.959349593495935	286|286	0.7900552486187845|0.7900552486187845	468|468	0.8181818181818182|0.8181818181818182	515|515	0.679419525065963|0.679419525065963	T|T	2.196|2.196	-0.384083|-0.384083	0.04966|0.04966	0.912022|0.912022	0.644679|0.644679	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.28069	.|1.63	5.79|5.79	2.13|2.13	0.27403|0.27403	.|Na-Ca exchanger/integrin-beta4 (1);	.|0.200839	.|0.52532	.|N	.|0.000061	.|T	.|0.00012	.|0.0000	N|N	0.01668|0.01668	-0.77|-0.77	0.09310|0.09310	P|P	0.9999999999996775|0.9999999999996775	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	.|T	.|0.37753	.|-0.9692	.|9	.|0.02654	.|T	.|1	.|.	6.532|6.532	0.22332|0.22332	0.0:0.3877:0.2855:0.3268|0.0:0.3877:0.2855:0.3268	rs2366777;rs17620692;rs58535021;rs2366777|rs2366777;rs17620692;rs58535021;rs2366777	.|1093	.|Q8WXG9	.|GPR98_HUMAN	X|F	682|1093	.|ENSP00000384582:L1093F	.|ENSP00000296619:L1093F	E|L	+|+	1|3	0|2	GPR98|GPR98	89979327|89979327	0.988000|0.988000	0.35896|0.35896	0.996000|0.996000	0.52242|0.52242	0.847000|0.847000	0.48162|0.48162	0.204000|0.204000	0.17335|0.17335	-0.087000|-0.087000	0.12528|0.12528	-0.264000|-0.264000	0.10439|0.10439	GAA|TTG	G|0.206;T|0.794	0.794	strong		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89943571	G	T	89943571	3	4	23	1	0	0	0	0	1	0	0	0	6721	1281	45	4	3345	4	GPR98	5	89943571	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7105940	89943571	90971689	1359	17815										
GPR98	84059	hgsc.bcm.edu	37	chr5	89979698	89979698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttctgagaaaaacagacCtgttaaagttgaggaagcaa	9	5	1	3	rs4916685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:89979698C>T	ENST00000405460.2	+	28	6056	c.5960C>T	c.(5959-5961)cCt>cTt	p.P1987L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1987	Calx-beta 14. {ECO:0000255}.		P -> L (in dbSNP:rs4916685). {ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P1987L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAACAGACCTGTTAAAGTT	0.388													C|||	1689	0.33726	0.261	0.5086	5008	,	,		19224	0.375		0.3201	False		,,,				2504	0.2975				p.P1987L		Atlas-SNP	.											GPR98,NS,carcinoma,0,1	GPR98	605	1	1	Substitution - Missense(1)	stomach(1)	c.C5960T						PASS	.	C	LEU/PRO	934,2792		124,686,1053	76	69	71	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5960	4.8	1	5	dbSNP_111	71	2712,5502		455,1802,1850	yes	missense	GPR98	NM_032119.3	98	579,2488,2903	TT,TC,CC		33.0168,25.0671,30.536	probably-damaging	1987/6307	89979698	3646,8294	1863	4107	5970	SO:0001583	missense	84059	exon28			ACAGACCTGTTAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5960C>T	5.37:g.89979698C>T	ENSP00000384582:p.Pro1987Leu	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	163	163	1	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	796	0.36446886446886445	135	0.27439024390243905	175	0.48342541436464087	245	0.42832167832167833	241	0.3179419525065963	C	16.25	3.070043	0.55539	0.250671	0.330168	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29397	1.57	5.71	4.84	0.62591	Na-Ca exchanger/integrin-beta4 (2);	0.102433	0.64402	D	0.000002	T	0.00012	0.0000	M	0.75447	2.3	0.09310	P	1.0	D	0.76494	0.999	D	0.81914	0.995	T	0.32903	-0.9889	9	0.02654	T	1	.	14.7907	0.69841	0.0:0.9306:0.0:0.0694	rs4916685;rs57833806;rs4916685	1987	Q8WXG9	GPR98_HUMAN	L	1987	ENSP00000384582:P1987L	ENSP00000296619:P1987L	P	+	2	0	GPR98	90015454	1.000000	0.71417	0.990000	0.47175	0.778000	0.44026	3.803000	0.55560	1.419000	0.47118	0.591000	0.81541	CCT	C|0.655;T|0.345	0.345	strong		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89979698	C	T	89979698	3	4	23	1	0	0	0	0	1	0	0	0	6721	681	24	2	6070	2	GPR98	5	89979698	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	36127	89979698	90935562	1360	17816										
GPR98	84059	hgsc.bcm.edu	37	chr5	89988504	89988504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatattattattcctgccaAtgatgatccttatggtacag	6	7	0	2	rs2366926	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:89988504A>G	ENST00000405460.2	+	32	7130	c.7034A>G	c.(7033-7035)aAt>aGt	p.N2345S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2345			N -> S (in dbSNP:rs2366926). {ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N2345S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCCTGCCAATGATGATCCT	0.403													A|||	1614	0.322284	0.208	0.5029	5008	,	,		17570	0.375		0.3191	False		,,,				2504	0.2975				p.N2345S		Atlas-SNP	.											GPR98,NS,carcinoma,0,1	GPR98	605	1	1	Substitution - Missense(1)	stomach(1)	c.A7034G						PASS	.	A	SER/ASN	777,2955		90,597,1179	93	89	91	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7034	5.9	1	5	dbSNP_100	91	2701,5503		447,1807,1848	yes	missense	GPR98	NM_032119.3	46	537,2404,3027	GG,GA,AA		32.923,20.8199,29.1387	probably-damaging	2345/6307	89988504	3478,8458	1866	4102	5968	SO:0001583	missense	84059	exon32			CTGCCAATGATGA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7034A>G	5.37:g.89988504A>G	ENSP00000384582:p.Asn2345Ser	Somatic	276	1	0.00362319		WXS	Illumina HiSeq	Phase_I	245	243	0.991837	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	763	0.34935897435897434	104	0.21138211382113822	174	0.48066298342541436	245	0.42832167832167833	240	0.316622691292876	A	24.1	4.498831	0.85069	0.208199	0.32923	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.31247	1.5	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.51914	1.62	0.09310	P	1.0	D	0.89917	1.0	D	0.85130	0.997	T	0.48514	-0.9029	9	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	rs2366926;rs52814624;rs61626672;rs2366926	2345	Q8WXG9	GPR98_HUMAN	S	2345	ENSP00000384582:N2345S	ENSP00000296619:N2345S	N	+	2	0	GPR98	90024260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.074000	0.93998	2.279000	0.76181	0.533000	0.62120	AAT	A|0.667;G|0.333	0.333	strong		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89988504	A	G	89988504	3	3	23	1	0	0	0	0	1	0	0	0	6721	101	4	2	7160	2	GPR98	5	89988504	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	8806	89988504	90926756	1361	17817										
GPR98	84059	hgsc.bcm.edu	37	chr5	89989779	89989779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagtggctctggcaatggaGgaaggtcaagatttactgtc	14	6	2	1	rs16876822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:89989779G>A	ENST00000405460.2	+	33	7302	c.7206G>A	c.(7204-7206)gaG>gaA	p.E2402E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2402					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAATGGAGGAAGGTCAAG	0.488													G|||	1613	0.322085	0.2073	0.5029	5008	,	,		17789	0.375		0.3191	False		,,,				2504	0.2975				p.E2402E		Atlas-SNP	.											.	GPR98	605	.	0			c.G7206A						PASS	.	G		797,3013		92,613,1200	73	69	70	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7206	4.2	1	5	dbSNP_123	70	2704,5546		448,1808,1869	no	coding-synonymous	GPR98	NM_032119.3		540,2421,3069	AA,AG,GG		32.7758,20.9186,29.0299		2402/6307	89989779	3501,8559	1905	4125	6030	SO:0001819	synonymous_variant	84059	exon33			AATGGAGGAAGGT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7206G>A	5.37:g.89989779G>A		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	156	154	0.987179	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																			G|0.672;A|0.328	0.328	strong		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89989779	G	A	89989779	2	1	23	1	0	0	0	0	0	0	0	1	6721	991	35	2		2	GPR98	5	89989779	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1275	89989779	90925481	1362	17818										
GPR98	84059	hgsc.bcm.edu	37	chr5	89990324	89990324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagtgtttgtgatctacaAtattagtcccaatacttccg	8	8	1	1	rs1878878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:89990324A>G	ENST00000405460.2	+	33	7847	c.7751A>G	c.(7750-7752)aAt>aGt	p.N2584S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2584	Calx-beta 18. {ECO:0000255}.		N -> S (in dbSNP:rs1878878). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGATCTACAATATTAGTCCC	0.438													G|||	4049	0.808506	0.9546	0.7997	5008	,	,		19316	0.8323		0.666	False		,,,				2504	0.7393				p.N2584S		Atlas-SNP	.											.	GPR98	605	.	0			c.A7751G						PASS	.	G	SER/ASN	3558,332		1630,298,17	267	261	263	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7751	5.9	1	5	dbSNP_92	263	5356,2944		1703,1950,497	yes	missense	GPR98	NM_032119.3	46	3333,2248,514	GG,GA,AA		35.4699,8.5347,26.8745	benign	2584/6307	89990324	8914,3276	1945	4150	6095	SO:0001583	missense	84059	exon33			TCTACAATATTAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7751A>G	5.37:g.89990324A>G	ENSP00000384582:p.Asn2584Ser	Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	158	156	0.987342	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	1736|1736	0.7948717948717948|0.7948717948717948	471|471	0.9573170731707317|0.9573170731707317	283|283	0.7817679558011049|0.7817679558011049	468|468	0.8181818181818182|0.8181818181818182	514|514	0.6781002638522428|0.6781002638522428	G|G	7.754|7.754	0.703903|0.703903	0.15172|0.15172	0.914653|0.914653	0.645301|0.645301	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.21361	.|2.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|Na-Ca exchanger/integrin-beta4 (1);	.|0.072501	.|0.85682	.|N	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00119|0.00119	-2.075|-2.075	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41875|0.41875	-0.9484|-0.9484	4|9	.|0.02654	.|T	.|1	.|.	15.2859|15.2859	0.73828|0.73828	0.067:0.0:0.933:0.0|0.067:0.0:0.933:0.0	rs1878878;rs3813833;rs17622157;rs52809440;rs57484012;rs1878878|rs1878878;rs3813833;rs17622157;rs52809440;rs57484012;rs1878878	.|2584;2584	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	150|2584	.|ENSP00000384582:N2584S	.|ENSP00000296619:N2584S	I|N	+|+	1|2	0|0	GPR98|GPR98	90026080|90026080	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.801000|0.801000	0.45260|0.45260	6.532000|6.532000	0.73825|0.73825	1.505000|1.505000	0.48720|0.48720	-0.119000|-0.119000	0.15052|0.15052	ATA|AAT	A|0.209;G|0.791	0.791	strong		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89990324	A	G	89990324	3	3	23	1	0	0	0	0	1	0	0	0	6721	101	4	2	7881	2	GPR98	5	89990324	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	545	89990324	90924936	1363	17819										
GPR98	84059	hgsc.bcm.edu	37	chr5	90020923	90020923	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatttaaatatagaaaatccTaaaacttgtgaggcctttaa	6	5	0	2	rs16869042	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:90020923T>G	ENST00000405460.2	+	47	10023	c.9927T>G	c.(9925-9927)ccT>ccG	p.P3309P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3309					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P3309P(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAAATCCTAAAACTTGTG	0.269																																					p.P3309P		Atlas-SNP	.											GPR98,NS,carcinoma,0,2	GPR98	605	2	1	Substitution - coding silent(1)	stomach(1)	c.T9927G						PASS	.	T		772,2796		91,590,1103	29	29	29	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	9927	2.3	1	5	dbSNP_123	29	2676,5394		450,1776,1809	no	coding-synonymous	GPR98	NM_032119.3		541,2366,2912	GG,GT,TT		33.1599,21.6368,29.6271		3309/6307	90020923	3448,8190	1784	4035	5819	SO:0001819	synonymous_variant	84059	exon47			AAATCCTAAAACT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9927T>G	5.37:g.90020923T>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	123	121	0.98374	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	771	0.35302197802197804	110	0.22357723577235772	176	0.4861878453038674	245	0.42832167832167833	240	0.316622691292876	T	8.590	0.884356	0.17467	0.216368	0.331599	ENSG00000164199	ENST00000509621	.	.	.	5.15	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999584104	.	.	.	.	.	.	T	0.48375	-0.9041	3	.	.	.	.	4.2044	0.10481	0.1927:0.1679:0.0:0.6393	rs16869042;rs16869042	.	.	.	R	875	.	.	L	+	2	0	GPR98	90056679	0.305000	0.24481	0.996000	0.52242	0.997000	0.91878	0.011000	0.13264	0.900000	0.36469	0.455000	0.32223	CTA	G|0.336;N|0.001	0.336	strong		0.269	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90020923	T	G	90020923	2	3	23	1	0	0	0	0	0	0	0	1	6721	1509	53	5		5	GPR98	5	90020923	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30599	90020923	90894337	1364	17820										
C5orf36	285600	hgsc.bcm.edu	37	chr5	93753017	93753017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacaatattttaaagatggCttccatcaagctgggtcctt	8	8	1	1	rs29910	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:93753017C>T	ENST00000513200.3	-	14	2623	c.2551G>A	c.(2551-2553)Gcc>Acc	p.A851T	KIAA0825_ENST00000312498.7_Missense_Mutation_p.A856T|KIAA0825_ENST00000427991.2_Missense_Mutation_p.A851T	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	851								p.A851T(1)|p.A856T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTAAAGATGGCTTCCATCAAG	0.353													C|||	921	0.183906	0.1293	0.1715	5008	,	,		18183	0.0784		0.2863	False		,,,				2504	0.2699				p.A851T		Atlas-SNP	.											KIAA0825_ENST00000513200,NS,carcinoma,0,2	KIAA0825	172	2	2	Substitution - Missense(2)	kidney(2)	c.G2551A						PASS	.	C	THR/ALA	205,1179		23,159,510	207	172	183		2551	3.6	1	5	dbSNP_76	183	940,2242		144,652,795	yes	missense	KIAA0825	NM_001145678.1	58	167,811,1305	TT,TC,CC		29.5412,14.8121,25.0767	benign	851/1276	93753017	1145,3421	692	1591	2283	SO:0001583	missense	285600	exon15			AGATGGCTTCCAT	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2551G>A	5.37:g.93753017C>T	ENSP00000424618:p.Ala851Thr	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	37		386	0.17673992673992675	50	0.1016260162601626	72	0.19889502762430938	37	0.06468531468531469	227	0.2994722955145119	C	12.22	1.873335	0.33069	0.148121	0.295412	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.49432	0.79;0.79;0.78	5.39	3.57	0.40892	.	0.000000	0.64402	D	0.000010	T	0.00012	0.0000	L	0.34521	1.04	0.35559	P	0.19545800000000002	B	0.29988	0.264	B	0.31290	0.127	T	0.22730	-1.0208	9	0.06494	T	0.89	.	8.2205	0.31539	0.1549:0.7637:0.0:0.0814	rs29910;rs17378492;rs56725943;rs29910	851	Q8IV33	K0825_HUMAN	T	851;851;856	ENSP00000424618:A851T;ENSP00000400288:A851T;ENSP00000312205:A856T	ENSP00000312205:A856T	A	-	1	0	KIAA0825	93778773	0.994000	0.37717	0.989000	0.46669	0.868000	0.49771	0.084000	0.14891	0.608000	0.30000	0.557000	0.71058	GCC	C|0.811;T|0.189	0.189	strong		0.353	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665		T	93753017	C	T	93753017	3	4	23	1	0	0	0	0	1	0	0	0	2295	797	28	2	1304	2	C5orf36	5	93753017	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3732094	93753017	87162243	1365	17821										
MCTP1	79772	hgsc.bcm.edu	37	chr5	94278129	94278129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtccaaaatcatagtcaaaTacctgagatgccaaagagaa	7	8	2	2	rs293035	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:94278129T>C	ENST00000515393.1	-	4	983	c.984A>G	c.(982-984)gtA>gtG	p.V328V	MCTP1_ENST00000429576.2_Silent_p.V107V|MCTP1_ENST00000312216.8_Silent_p.V107V|MCTP1_ENST00000505208.1_Silent_p.V107V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	328	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CATAGTCAAATACCTGAGATG	0.358													T|||	1317	0.262979	0.1838	0.1326	5008	,	,		18700	0.495		0.2406	False		,,,				2504	0.2464				p.V328V		Atlas-SNP	.											.	MCTP1	110	.	0			c.A984G						PASS	.	T	,	907,3499	351.8+/-311.4	93,721,1389	93	88	89		321,984	-0.8	1	5	dbSNP_79	89	2130,6470	364.6+/-333.6	254,1622,2424	no	coding-synonymous,coding-synonymous	MCTP1	NM_001002796.2,NM_024717.4	,	347,2343,3813	CC,CT,TT		24.7674,20.5856,23.3508	,	107/779,328/1000	94278129	3037,9969	2203	4300	6503	SO:0001819	synonymous_variant	79772	exon4			GTCAAATACCTGA		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.984A>G	5.37:g.94278129T>C		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	80	80	1	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1	634	0.2902930402930403	92	0.18699186991869918	57	0.1574585635359116	301	0.5262237762237763	184	0.24274406332453827	T	12.21	1.871036	0.33069	0.205856	0.247674	ENSG00000175471	ENST00000503301	.	.	.	5.63	-0.839	0.10759	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999988	.	.	.	.	.	.	T	0.46652	-0.9176	3	.	.	.	-12.4535	2.5726	0.04798	0.0915:0.2027:0.201:0.5048	rs293035;rs295203;rs61144873;rs293035	.	.	.	V	137	.	.	I	-	1	0	MCTP1	94303885	0.905000	0.30787	0.998000	0.56505	0.967000	0.64934	-0.263000	0.08670	-0.029000	0.13827	0.533000	0.62120	ATT	T|0.746;C|0.254	0.254	strong		0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94278129	T	C	94278129	2	2	23	1	0	0	0	0	0	0	0	1	9400	1393	49	2		2	MCTP1	5	94278129	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	525112	94278129	86637131	1366	17822										
FAM81B	153643	hgsc.bcm.edu	37	chr5	94749723	94749723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagactgaacaaccaggcGcgtaccatagctttccttct	8	13	1	2	rs7726891	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:94749723G>A	ENST00000283357.5	+	4	412	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	122						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ACAACCAGGCGCGTACCATAG	0.502													G|||	1090	0.217652	0.2428	0.2406	5008	,	,		19920	0.1071		0.334	False		,,,				2504	0.1616				p.A122A		Atlas-SNP	.											.	FAM81B	51	.	0			c.G366A						PASS	.	G		1016,2994		129,758,1118	99	105	103		366	1.8	1	5	dbSNP_116	103	2417,5941		365,1687,2127	no	coding-synonymous	FAM81B	NM_152548.2		494,2445,3245	AA,AG,GG		28.9184,25.3367,27.7571		122/453	94749723	3433,8935	2005	4179	6184	SO:0001819	synonymous_variant	153643	exon4			CCAGGCGCGTACC		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.366G>A	5.37:g.94749723G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	113	53	0.469027	NM_152548		Silent	SNP	ENST00000283357.5	37	CCDS43341.1																																																																																			G|0.759;A|0.241	0.241	strong		0.502	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94749723	G	A	94749723	2	1	23	1	0	0	0	0	0	0	0	1	5629	1074	38	1		1	FAM81B	5	94749723	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	471594	94749723	86165537	1367	17823										
FAM81B	153643	hgsc.bcm.edu	37	chr5	94756010	94756010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttagaagaccaaataagagCtcgagatcaggcggccacag	11	9	1	4	rs11555275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:94756010C>T	ENST00000283357.5	+	5	606	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	187			A -> V (in dbSNP:rs11555275).			nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAAATAAGAGCTCGAGATCAG	0.408													C|||	72	0.014377	0.0015	0.036	5008	,	,		21775	0.0		0.0338	False		,,,				2504	0.0112				p.A187V		Atlas-SNP	.											.	FAM81B	51	.	0			c.C560T						PASS	.	C	VAL/ALA	15,3697		0,15,1841	96	89	91		560	-4.3	0	5	dbSNP_120	91	234,7970		4,226,3872	yes	missense	FAM81B	NM_152548.2	64	4,241,5713	TT,TC,CC		2.8523,0.4041,2.0896	benign	187/453	94756010	249,11667	1856	4102	5958	SO:0001583	missense	153643	exon5			TAAGAGCTCGAGA		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.560C>T	5.37:g.94756010C>T	ENSP00000283357:p.Ala187Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	105	48	0.457143	NM_152548		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	37	0.01694139194139194	0	0.0	14	0.03867403314917127	0	0.0	23	0.030343007915567283	C	11.77	1.737542	0.30774	0.004041	0.028523	ENSG00000153347	ENST00000283357	T	0.19806	2.12	5.92	-4.31	0.03698	.	1.484280	0.03679	N	0.245167	T	0.04092	0.0114	L	0.37507	1.11	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30475	-0.9977	10	0.32370	T	0.25	1.3968	12.6219	0.56607	0.1212:0.7033:0.0:0.1755	rs11555275	187	Q96LP2	FA81B_HUMAN	V	187	ENSP00000283357:A187V	ENSP00000283357:A187V	A	+	2	0	FAM81B	94781766	0.001000	0.12720	0.014000	0.15608	0.982000	0.71751	-0.878000	0.04192	-0.662000	0.05338	-0.322000	0.08575	GCT	C|0.978;T|0.022	0.022	strong		0.408	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		T	94756010	C	T	94756010	3	4	23	1	0	0	0	0	1	0	0	0	5629	797	28	2	578	2	FAM81B	5	94756010	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6287	94756010	86159250	1368	17824										
RHOBTB3	22836	hgsc.bcm.edu	37	chr5	95084131	95084131	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgcaaaagaactaggagcGacctatcttgaactccacag	8	11	1	2	rs34896	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95084131G>A	ENST00000379982.3	+	4	1018	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	170	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AACTAGGAGCGACCTATCTTG	0.418													G|||	2269	0.453075	0.2784	0.3343	5008	,	,		15976	0.6905		0.4294	False		,,,				2504	0.5532				p.A170A		Atlas-SNP	.											.	RHOBTB3	43	.	0			c.G510A						PASS	.	G		1347,3059	448.1+/-348.6	202,943,1058	116	109	111		510	-12.1	0.4	5	dbSNP_76	111	3574,5026	518.5+/-379.3	731,2112,1457	no	coding-synonymous	RHOBTB3	NM_014899.3		933,3055,2515	AA,AG,GG		41.5581,30.5719,37.8364		170/612	95084131	4921,8085	2203	4300	6503	SO:0001819	synonymous_variant	22836	exon4			AGGAGCGACCTAT	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.510G>A	5.37:g.95084131G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_014899	A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	CCDS4077.1																																																																																			A|0.416;C|0.001	0.416	strong		0.418	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		A	95084131	G	A	95084131	2	1	23	1	0	0	0	0	0	0	0	1	13335	1045	37	1		1	RHOBTB3	5	95084131	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	328121	95084131	85831129	1369	17825										
RHOBTB3	22836	hgsc.bcm.edu	37	chr5	95115959	95115959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttttgaacctttcaggtaCgacagtgccagcccacaggg	10	13	1	1	rs41276257	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95115959C>T	ENST00000379982.3	+	9	1794	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.T60M|GLRX_ENST00000507605.1_5'Flank	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	429	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CTTTCAGGTACGACAGTGCCA	0.463													C|||	202	0.0403355	0.0091	0.049	5008	,	,		18769	0.0		0.1153	False		,,,				2504	0.0409				p.T429M		Atlas-SNP	.											RHOBTB3,NS,carcinoma,-1,1	RHOBTB3	43	1	0			c.C1286T						PASS	.	C	MET/THR	102,4304	80.4+/-118.8	2,98,2103	59	56	57		1286	5.2	0.3	5	dbSNP_127	57	821,7779	190.1+/-236.7	49,723,3528	yes	missense	RHOBTB3	NM_014899.3	81	51,821,5631	TT,TC,CC		9.5465,2.315,7.0967	possibly-damaging	429/612	95115959	923,12083	2203	4300	6503	SO:0001583	missense	22836	exon9			CAGGTACGACAGT	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1286C>T	5.37:g.95115959C>T	ENSP00000369318:p.Thr429Met	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	260	120	0.461538	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	102|102	0.046703296703296704|0.046703296703296704	7|7	0.014227642276422764|0.014227642276422764	20|20	0.055248618784530384|0.055248618784530384	0|0	0.0|0.0	75|75	0.09894459102902374|0.09894459102902374	C|C	16.64|16.64	3.179423|3.179423	0.57800|0.57800	0.02315|0.02315	0.095465|0.095465	ENSG00000164292|ENSG00000164292	ENST00000510313|ENST00000379982;ENST00000504179	.|T;T	.|0.68025	.|-0.3;-0.3	5.24|5.24	5.24|5.24	0.73138|0.73138	.|BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.|0.398328	.|0.29348	.|N	.|0.012408	.|T	.|0.04679	.|0.0127	L|L	0.45352|0.45352	1.415|1.415	0.24529|0.24529	P|P	0.99412356|0.99412356	.|D	.|0.58970	.|0.984	.|P	.|0.51833	.|0.681	.|T	.|0.51379	.|-0.8713	.|9	.|0.49607	.|T	.|0.09	-4.4503|-4.4503	12.2008|12.2008	0.54323|0.54323	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	rs41276257;rs61749616|rs41276257;rs61749616	.|429	.|O94955	.|RHBT3_HUMAN	X|M	11|429;60	.|ENSP00000369318:T429M;ENSP00000422360:T60M	.|ENSP00000369318:T429M	R|T	+|+	1|2	2|0	RHOBTB3|RHOBTB3	95141715|95141715	0.288000|0.288000	0.24324|0.24324	0.251000|0.251000	0.24312|0.24312	0.243000|0.243000	0.25628|0.25628	3.640000|3.640000	0.54350|0.54350	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	CGA|ACG	C|0.934;T|0.066	0.066	strong		0.463	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		T	95115959	C	T	95115959	3	4	23	1	0	0	0	0	1	0	0	0	13335	536	19	1	1320	1	RHOBTB3	5	95115959	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31828	95115959	85799301	1370	17826										
ELL2	22936	hgsc.bcm.edu	37	chr5	95234350	95234350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggcagcggtggaggggtAgggatggcagcagccgcagg	22	7	0	0	rs3777204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95234350A>G	ENST00000237853.4	-	8	1468	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	373					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTGGAGGGGTAGGGATGGCAG	0.552													G|||	2237	0.446685	0.6263	0.3314	5008	,	,		14177	0.4643		0.2863	False		,,,				2504	0.4325				p.P373P		Atlas-SNP	.											.	ELL2	63	.	0			c.T1119C						PASS	.	G		2505,1901		720,1065,418	57	70	66		1119	-3.4	0.2	5	dbSNP_107	66	2316,6284		308,1700,2292	yes	coding-synonymous	ELL2	NM_012081.5		1028,2765,2710	GG,GA,AA		26.9302,43.1457,37.0675		373/641	95234350	4821,8185	2203	4300	6503	SO:0001819	synonymous_variant	22936	exon8			AGGGGTAGGGATG	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1119T>C	5.37:g.95234350A>G		Somatic	292	2	0.00684932		WXS	Illumina HiSeq	Phase_I	230	228	0.991304	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			A|0.626;G|0.374	0.374	strong		0.552	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		G	95234350	A	G	95234350	2	3	23	1	0	0	0	0	0	0	0	1	5063	407	15	3		3	ELL2	5	95234350	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	118391	95234350	85680910	1371	17827										
ELL2	22936	hgsc.bcm.edu	37	chr5	95234377	95234377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcagccgcagggggcagCgggaggcctgcagcagattt	18	11	0	1	rs3777203	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95234377C>T	ENST00000237853.4	-	8	1441	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	364					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CAGGGGGCAGCGGGAGGCCTG	0.507													C|||	1826	0.364617	0.4531	0.245	5008	,	,		15044	0.4325		0.2803	False		,,,				2504	0.3466				p.P364P		Atlas-SNP	.											.	ELL2	63	.	0			c.G1092A						PASS	.	C		1841,2561		401,1039,761	67	84	78		1092	-6.1	0.8	5	dbSNP_107	78	2233,6367		291,1651,2358	no	coding-synonymous	ELL2	NM_012081.5		692,2690,3119	TT,TC,CC		25.9651,41.8219,31.3336		364/641	95234377	4074,8928	2201	4300	6501	SO:0001819	synonymous_variant	22936	exon8			GGGCAGCGGGAGG	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1092G>A	5.37:g.95234377C>T		Somatic	392	1	0.00255102		WXS	Illumina HiSeq	Phase_I	293	287	0.979522	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			C|0.691;T|0.309	0.309	strong		0.507	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		T	95234377	C	T	95234377	2	4	23	1	0	0	0	0	0	0	0	1	5063	755	27	1		1	ELL2	5	95234377	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27	95234377	85680883	1372	17828										
ELL2	22936	hgsc.bcm.edu	37	chr5	95234392	95234392	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagcgggaggcctgcagcAgatttttcactggtgggatt	16	8	1	1	rs3777202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95234392A>C	ENST00000237853.4	-	8	1426	c.1077T>G	c.(1075-1077)tcT>tcG	p.S359S	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	359					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGCCTGCAGCAGATTTTTCAC	0.498													A|||	1930	0.385383	0.5318	0.2464	5008	,	,		15337	0.4325		0.2803	False		,,,				2504	0.3456				p.S359S		Atlas-SNP	.											ELL2,NS,carcinoma,-1,1	ELL2	63	1	0			c.T1077G						PASS	.	A		2118,2282		532,1054,614	85	105	99		1077	-6.7	0	5	dbSNP_107	99	2233,6363		292,1649,2357	no	coding-synonymous	ELL2	NM_012081.5		824,2703,2971	CC,CA,AA		25.9772,48.1364,33.4795		359/641	95234392	4351,8645	2200	4298	6498	SO:0001819	synonymous_variant	22936	exon8			TGCAGCAGATTTT	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1077T>G	5.37:g.95234392A>C		Somatic	408	0	0		WXS	Illumina HiSeq	Phase_I	299	297	0.993311	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			A|0.674;C|0.326	0.326	strong		0.498	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		C	95234392	A	C	95234392	2	2	23	1	0	0	0	0	0	0	0	1	5063	175	7	5		5	ELL2	5	95234392	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	15	95234392	85680868	1373	17829										
ELL2	22936	hgsc.bcm.edu	37	chr5	95236415	95236415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgaggagaagatacagcGtctctactagaacatacagg	10	9	1	4	rs17085249	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95236415G>A	ENST00000237853.4	-	7	1285	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	312					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.D312D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAGATACAGCGTCTCTACTAG	0.413													G|||	1706	0.340655	0.3654	0.2406	5008	,	,		19046	0.4325		0.2793	False		,,,				2504	0.3466				p.D312D		Atlas-SNP	.											ELL2,NS,carcinoma,0,1	ELL2	63	1	1	Substitution - coding silent(1)	prostate(1)	c.C936T						PASS	.	G		1503,2903	478.5+/-358.2	256,991,956	75	73	73		936	-8.4	0	5	dbSNP_123	73	2247,6353	380.4+/-339.6	290,1667,2343	no	coding-synonymous	ELL2	NM_012081.5		546,2658,3299	AA,AG,GG		26.1279,34.1126,28.8328		312/641	95236415	3750,9256	2203	4300	6503	SO:0001819	synonymous_variant	22936	exon7			TACAGCGTCTCTA	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.936C>T	5.37:g.95236415G>A		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	177	174	0.983051	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			G|0.697;A|0.303	0.303	strong		0.413	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		A	95236415	G	A	95236415	2	1	23	1	0	0	0	0	0	0	0	1	5063	1136	40	1		1	ELL2	5	95236415	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2023	95236415	85678845	1374	17830										
ELL2	22936	hgsc.bcm.edu	37	chr5	95236459	95236459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgaacggctggtgcctgCagcattctgagacggattta	12	9	2	2	rs3815768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:95236459C>T	ENST00000237853.4	-	7	1241	c.892G>A	c.(892-894)Gca>Aca	p.A298T	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	298			A -> T (in dbSNP:rs3815768). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9108030}.		regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTGGTGCCTGCAGCATTCTGA	0.393													C|||	1711	0.341653	0.3699	0.2392	5008	,	,		18726	0.4325		0.2803	False		,,,				2504	0.3456				p.A298T		Atlas-SNP	.											.	ELL2	63	.	0			c.G892A						PASS	.	C	THR/ALA	1538,2868	483.0+/-359.6	271,996,936	68	68	68		892	3.7	1	5	dbSNP_107	68	2248,6352	380.4+/-339.6	291,1666,2343	yes	missense	ELL2	NM_012081.5	58	562,2662,3279	TT,TC,CC		26.1395,34.9069,29.1096	benign	298/641	95236459	3786,9220	2203	4300	6503	SO:0001583	missense	22936	exon7			TGCCTGCAGCATT	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.892G>A	5.37:g.95236459C>T	ENSP00000237853:p.Ala298Thr	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	151	149	0.986755	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	725	0.33195970695970695	174	0.35365853658536583	84	0.23204419889502761	246	0.43006993006993005	221	0.29155672823219	C	9.940	1.217350	0.22373	0.349069	0.261395	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.28454	2.06;1.61	5.7	3.65	0.41850	.	0.261711	0.43110	N	0.000615	T	0.00012	0.0000	N	0.00392	-1.555	0.09310	P	0.9999999999999996	B	0.02656	0.0	B	0.08055	0.003	T	0.46470	-0.9189	9	0.02654	T	1	-0.7066	4.8931	0.13737	0.0:0.6493:0.0:0.3507	rs3815768;rs17855530;rs61132053;rs3815768	298	O00472	ELL2_HUMAN	T	298;116	ENSP00000237853:A298T;ENSP00000423915:A116T	ENSP00000237853:A298T	A	-	1	0	ELL2	95262215	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.128000	0.31369	1.374000	0.46228	0.561000	0.74099	GCA	C|0.695;T|0.305	0.305	strong		0.393	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		T	95236459	C	T	95236459	3	4	23	1	0	0	0	0	1	0	0	0	5063	710	25	2	1054	2	ELL2	5	95236459	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	44	95236459	85678801	1375	17831										
CAST	831	hgsc.bcm.edu	37	chr5	96031569	96031569	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaagcctcggcagcagtcaAtcctccagaacctatgctgg	10	14	1	1	rs9667	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:96031569A>G	ENST00000341926.3	+	0	81				AC020900.2_ENST00000580431.1_RNA|CAST_ENST00000508608.1_Silent_p.Q41Q|CAST_ENST00000338252.3_5'UTR|CAST_ENST00000325674.7_Silent_p.Q56Q|CAST_ENST00000395813.1_Silent_p.Q56Q|CAST_ENST00000508830.1_Silent_p.Q56Q|CAST_ENST00000395812.2_Silent_p.Q56Q|CAST_ENST00000510756.1_Silent_p.Q56Q|CAST_ENST00000359176.4_Silent_p.Q56Q			P20810	ICAL_HUMAN	calpastatin						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCAGCAGTCAATCCTCCAGAA	0.428													A|||	1014	0.202476	0.1225	0.2305	5008	,	,		16879	0.253		0.1889	False		,,,				2504	0.2526				p.Q56Q		Atlas-SNP	.											.	CAST	58	.	0			c.A168G						PASS	.	A	,	500,3220		38,424,1398	42	40	41		168,	-8.6	0	5	dbSNP_52	41	1564,6620		154,1256,2682	no	coding-synonymous,utr-5	CAST	NM_001042440.2,NM_001190442.1	,	192,1680,4080	GG,GA,AA		19.1105,13.4409,17.3387	,	56/751,	96031569	2064,9840	1860	4092	5952	SO:0001623	5_prime_UTR_variant	831	exon3			CAGTCAATCCTCC	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.-82A>G	5.37:g.96031569A>G		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	184	90	0.48913	NM_001042440	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent	SNP	ENST00000341926.3	37		408	0.18681318681318682	50	0.1016260162601626	73	0.20165745856353592	143	0.25	142	0.18733509234828497	A	1.723	-0.496032	0.04291	0.134409	0.191105	ENSG00000153113	ENST00000512620	.	.	.	5.18	-8.58	0.00897	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.37307	P	0.091028	.	.	.	.	.	.	T	0.16600	-1.0397	3	.	.	.	-0.5219	8.4796	0.33034	0.6194:0.2114:0.1693:0.0	rs9667;rs27894;rs1135385;rs3198018;rs9667	.	.	.	S	39	.	.	N	+	2	0	CAST	96057325	0.000000	0.05858	0.002000	0.10522	0.226000	0.24999	-1.032000	0.03574	-1.388000	0.02092	0.459000	0.35465	AAT	A|0.818;G|0.182	0.182	strong		0.428	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		G	96031569	A	G	96031569	1	3	23	0	1	0	0	0	0	0	0	0	2684	98	4	2		2	CAST	5	96031569	5'UTR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	795110	96031569	84883691	1376	17832										
ERAP1	51752	hgsc.bcm.edu	37	chr5	96129543	96129543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggccacagtcattgtgatgCcaagcttacttgatgcagaa	11	9	1	3	rs27895	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:96129543C>T	ENST00000443439.2	-	6	1103	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ERAP1_ENST00000296754.3_Missense_Mutation_p.G346D	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	346			G -> D (in dbSNP:rs27895). {ECO:0000269|Ref.3}.		angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATTGTGATGCCAAGCTTACT	0.398													C|||	519	0.103634	0.2375	0.0476	5008	,	,		17744	0.001		0.0636	False		,,,				2504	0.1094				p.G346D		Atlas-SNP	.											.	ERAP1	59	.	0			c.G1037A						PASS	.	C	ASP/GLY,ASP/GLY,ASP/GLY	820,3586	325.6+/-299.2	77,666,1460	63	57	59		1037,1037,1037	3.1	1	5	dbSNP_76	59	593,8007	157.3+/-211.0	12,569,3719	yes	missense,missense,missense	ERAP1	NM_001040458.1,NM_001198541.1,NM_016442.3	94,94,94	89,1235,5179	TT,TC,CC		6.8953,18.611,10.8642	benign,benign,benign	346/942,346/942,346/949	96129543	1413,11593	2203	4300	6503	SO:0001583	missense	51752	exon6			GTGATGCCAAGCT	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1037G>A	5.37:g.96129543C>T	ENSP00000406304:p.Gly346Asp	Somatic	262	1	0.00381679		WXS	Illumina HiSeq	Phase_I	246	119	0.48374	NM_001198541	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	177	0.08104395604395605	106	0.21544715447154472	21	0.058011049723756904	0	0.0	50	0.06596306068601583	C	11.92	1.781519	0.31502	0.18611	0.068953	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02472	4.28;4.28	5.82	3.1	0.35709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.425013	0.28940	N	0.013641	T	0.00012	0.0000	N	0.21448	0.665	0.25970	P	0.9825164	B;B;B	0.17038	0.0;0.02;0.016	B;B;B	0.23716	0.001;0.048;0.028	T	0.49744	-0.8907	9	0.33940	T	0.23	.	9.2579	0.37595	0.0:0.7475:0.1202:0.1323	rs27895;rs639135;rs59167594;rs27895	346;346;346	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	D	346	ENSP00000296754:G346D;ENSP00000406304:G346D	ENSP00000296754:G346D	G	-	2	0	ERAP1	96155299	0.005000	0.15991	0.998000	0.56505	0.810000	0.45777	0.726000	0.25984	0.391000	0.25143	-0.885000	0.02943	GGC	C|0.903;T|0.097	0.097	strong		0.398	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		T	96129543	C	T	96129543	3	4	23	1	0	0	0	0	1	0	0	0	5203	739	26	2	1877	2	ERAP1	5	96129543	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	97974	96129543	84785717	1377	17833										
ERAP1	51752	hgsc.bcm.edu	37	chr5	96130836	96130836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgcataatctgcttgattTatcttgtctggcacagcata	8	8	3	1	rs26618	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:96130836T>C	ENST00000443439.2	-	5	894	c.828A>G	c.(826-828)atA>atG	p.I276M	ERAP1_ENST00000296754.3_Missense_Mutation_p.I276M	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	276			I -> M (in dbSNP:rs26618).		angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTGCTTGATTTATCTTGTCTG	0.403													T|||	1135	0.226637	0.1959	0.1441	5008	,	,		20699	0.2857		0.2187	False		,,,				2504	0.274				p.I276M		Atlas-SNP	.											.	ERAP1	59	.	0			c.A828G	GRCh37	CM020527	ERAP1	M	rs26618	PASS	.	T	MET/ILE,MET/ILE,MET/ILE	889,3517	342.8+/-307.3	73,743,1387	72	66	68		828,828,828	-0.2	1	5	dbSNP_76	68	1965,6635	344.4+/-325.3	230,1505,2565	yes	missense,missense,missense	ERAP1	NM_001040458.1,NM_001198541.1,NM_016442.3	10,10,10	303,2248,3952	CC,CT,TT		22.8488,20.177,21.9437	possibly-damaging,possibly-damaging,possibly-damaging	276/942,276/942,276/949	96130836	2854,10152	2203	4300	6503	SO:0001583	missense	51752	exon5			TTGATTTATCTTG	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.828A>G	5.37:g.96130836T>C	ENSP00000406304:p.Ile276Met	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_001198541	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	456	0.2087912087912088	100	0.2032520325203252	55	0.15193370165745856	135	0.23601398601398602	166	0.21899736147757257	T	17.12	3.308085	0.60305	0.20177	0.228488	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02916	4.11;4.11	5.71	-0.178	0.13303	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.85462	2.755	0.22896	P	0.99859659	P;P;P	0.47106	0.89;0.774;0.732	P;P;P	0.52031	0.593;0.688;0.561	T	0.30736	-0.9968	9	0.51188	T	0.08	.	10.711	0.45984	0.1063:0.0:0.5215:0.3722	rs26618;rs52799291;rs59427621;rs26618	276;276;276	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	M	276	ENSP00000296754:I276M;ENSP00000406304:I276M	ENSP00000296754:I276M	I	-	3	3	ERAP1	96156592	0.074000	0.21230	0.984000	0.44739	0.976000	0.68499	-0.670000	0.05256	0.044000	0.15775	0.528000	0.53228	ATA	T|0.783;C|0.217	0.217	strong		0.403	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		C	96130836	T	C	96130836	3	2	23	1	0	0	0	0	1	0	0	0	5203	1744	61	2	2090	2	ERAP1	5	96130836	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1293	96130836	84784424	1378	17834										
CHD1	1105	hgsc.bcm.edu	37	chr5	98199204	98199204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attaaacattgtctagtatgCtctagttgttctctttctga	6	7	4	1	rs161941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:98199204C>T	ENST00000284049.3	-	31	4484	c.4335G>A	c.(4333-4335)gaG>gaA	p.E1445E	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1445					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTCTAGTATGCTCTAGTTGTT	0.338													T|||	1484	0.296326	0.6082	0.2363	5008	,	,		15783	0.0427		0.2903	False		,,,				2504	0.1851				p.E1445E		Atlas-SNP	.											.	CHD1	137	.	0			c.G4335A						PASS	.	T		2367,2037	559.5+/-380.2	652,1063,487	96	102	100		4335	-6.7	0.8	5	dbSNP_79	100	2469,6129	692.1+/-404.6	355,1759,2185	no	coding-synonymous	CHD1	NM_001270.2		1007,2822,2672	TT,TC,CC		28.716,46.2534,37.1943		1445/1711	98199204	4836,8166	2202	4299	6501	SO:0001819	synonymous_variant	1105	exon31			AGTATGCTCTAGT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4335G>A	5.37:g.98199204C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	132	69	0.522727	NM_001270	Q17RZ3	Silent	SNP	ENST00000284049.3	37	CCDS34204.1																																																																																			C|0.658;T|0.342	0.342	strong		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		T	98199204	C	T	98199204	2	4	23	1	0	0	0	0	0	0	0	1	3323	796	28	2		2	CHD1	5	98199204	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2068368	98199204	82716056	1379	17835										
NUDT12	83594	hgsc.bcm.edu	37	chr5	102894977	102894977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagccagtcagaattattTctcttttcacttttccggtc	6	11	3	1	rs7734923	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:102894977T>C	ENST00000230792.2	-	3	495	c.399A>G	c.(397-399)agA>agG	p.R133R	NUDT12_ENST00000507423.1_Silent_p.R115R	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	133					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CAGAATTATTTCTCTTTTCAC	0.388													T|||	499	0.0996406	0.1407	0.1499	5008	,	,		17247	0.0129		0.1561	False		,,,				2504	0.0399				p.R133R		Atlas-SNP	.											.	NUDT12	27	.	0			c.A399G						PASS	.	T		556,3848	248.1+/-256.1	29,498,1675	54	59	58		399	3.7	1	5	dbSNP_116	58	1445,7153	273.3+/-290.6	111,1223,2965	no	coding-synonymous	NUDT12	NM_031438.2		140,1721,4640	CC,CT,TT		16.8062,12.6249,15.3899		133/463	102894977	2001,11001	2202	4299	6501	SO:0001819	synonymous_variant	83594	exon3			ATTATTTCTCTTT	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.399A>G	5.37:g.102894977T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	51	0.447368	NM_031438	B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																			T|0.863;C|0.137	0.137	strong		0.388	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		C	102894977	T	C	102894977	2	2	23	1	0	0	0	0	0	0	0	1	10728	1780	62	2		2	NUDT12	5	102894977	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4695773	102894977	78020283	1380	17836										
NUDT12	83594	hgsc.bcm.edu	37	chr5	102895124	102895124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaccccaaaatacagcaatGtccagtgcagtctgccttga	7	12	1	1	rs7723689	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:102895124G>A	ENST00000230792.2	-	3	348	c.252C>T	c.(250-252)gaC>gaT	p.D84D	NUDT12_ENST00000507423.1_Silent_p.D66D	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	84					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATACAGCAATGTCCAGTGCAG	0.373													A|||	501	0.10004	0.1407	0.1513	5008	,	,		17726	0.0129		0.1561	False		,,,				2504	0.0409				p.D84D		Atlas-SNP	.											.	NUDT12	27	.	0			c.C252T						PASS	.	A		533,3835		26,481,1677	49	51	51		252	3.5	1	5	dbSNP_116	51	1428,7160		109,1210,2975	no	coding-synonymous	NUDT12	NM_031438.2		135,1691,4652	AA,AG,GG		16.6279,12.2024,15.1358		84/463	102895124	1961,10995	2184	4294	6478	SO:0001819	synonymous_variant	83594	exon3			AGCAATGTCCAGT	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.252C>T	5.37:g.102895124G>A		Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	170	84	0.494118	NM_031438	B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																			G|0.869;A|0.131	0.131	strong		0.373	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		A	102895124	G	A	102895124	2	1	23	1	0	0	0	0	0	0	0	1	10728	1368	48	2		2	NUDT12	5	102895124	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	147	102895124	78020136	1381	17837										
FER	2241	hgsc.bcm.edu	37	chr5	108133967	108133967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacggttactggaaacagtAaagaaatttatggccctgag	10	6	0	2	rs2229085	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:108133967A>G	ENST00000281092.4	+	3	468	c.84A>G	c.(82-84)gtA>gtG	p.V28V	FER_ENST00000536402.1_Silent_p.V28V|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGAAACAGTAAAGAAATTTA	0.363													A|||	891	0.177915	0.2988	0.17	5008	,	,		17170	0.0575		0.167	False		,,,				2504	0.1554				p.V28V	Colon(146;1051 1799 9836 27344 47401)	Atlas-SNP	.											.	FER	100	.	0			c.A84G						PASS	.	A		1242,3162	427.0+/-341.4	179,884,1139	87	90	89		84	1.1	1	5	dbSNP_98	89	1534,7066	288.9+/-299.0	135,1264,2901	no	coding-synonymous	FER	NM_005246.2		314,2148,4040	GG,GA,AA		17.8372,28.2016,21.3473		28/823	108133967	2776,10228	2202	4300	6502	SO:0001819	synonymous_variant	2241	exon3			AACAGTAAAGAAA	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.84A>G	5.37:g.108133967A>G		Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	288	287	0.996528	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																			A|0.801;G|0.199	0.199	strong		0.363	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		G	108133967	A	G	108133967	2	3	23	1	0	0	0	0	0	0	0	1	5813	349	13	2		2	FER	5	108133967	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5238843	108133967	72781293	1382	17838										
PJA2	9867	hgsc.bcm.edu	37	chr5	108714329	108714329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatatgccctggaccacaggCtgcatcttcaggtgaatgtt	10	10	2	1	rs144230886	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:108714329C>T	ENST00000361189.2	-	4	1098	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.A287T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	287					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GGACCACAGGCTGCATCTTCA	0.408																																					p.A287T		Atlas-SNP	.											PJA2,NS,carcinoma,+2,1	PJA2	53	1	0			c.G859A						scavenged	.						134	146	142					5																	108714329		2202	4300	6502	SO:0001583	missense	9867	exon4			CACAGGCTGCATC	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.859G>A	5.37:g.108714329C>T	ENSP00000354775:p.Ala287Thr	Somatic	180	2	0.0111111		WXS	Illumina HiSeq	Phase_I	173	3	0.017341	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	5.549	0.286122	0.10513	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05513	3.43;3.43	5.61	3.82	0.43975	.	0.726454	0.13281	N	0.399735	T	0.05640	0.0148	L	0.44542	1.39	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.43458	-0.9390	10	0.15952	T	0.53	-0.0644	6.0592	0.19828	0.1498:0.6614:0.0:0.1888	.	287	O43164	PJA2_HUMAN	T	287	ENSP00000354775:A287T;ENSP00000355284:A287T	ENSP00000354775:A287T	A	-	1	0	PJA2	108742228	0.005000	0.15991	0.937000	0.37676	0.130000	0.20726	0.095000	0.15127	0.825000	0.34637	0.655000	0.94253	GCC	C|1.000;A|0.000	.	alt		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		T	108714329	C	T	108714329	3	4	23	1	0	0	0	0	1	0	0	0	11962	797	28	2	1295	2	PJA2	5	108714329	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	580362	108714329	72200931	1383	17839										
MAN2A1	4124	hgsc.bcm.edu	37	chr5	109110537	109110537	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagtcaaagctttttcgTaccaaagttctcctggctcc	7	11	2	1	rs6894260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:109110537T>A	ENST00000261483.4	+	8	2297	c.1245T>A	c.(1243-1245)cgT>cgA	p.R415R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	415					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGCTTTTTCGTACCAAAGTTC	0.363													T|||	1683	0.336062	0.5552	0.3314	5008	,	,		14466	0.2609		0.3489	False		,,,				2504	0.1074				p.R415R		Atlas-SNP	.											MAN2A1,extremity,malignant_melanoma,+2,1	MAN2A1	136	1	0			c.T1245A						scavenged	.	T		2462,1942	621.9+/-393.8	701,1060,441	77	76	76		1245	-3.9	0.5	5	dbSNP_116	76	2914,5686	454.3+/-363.5	522,1870,1908	no	coding-synonymous	MAN2A1	NM_002372.2		1223,2930,2349	AA,AT,TT		33.8837,44.0963,41.3411		415/1145	109110537	5376,7628	2202	4300	6502	SO:0001819	synonymous_variant	4124	exon8			TTTTCGTACCAAA		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1245T>A	5.37:g.109110537T>A		Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	83	46	0.554217	NM_002372	Q16767	Silent	SNP	ENST00000261483.4	37	CCDS34209.1																																																																																			A|0.390;N|0.000	0.390	strong		0.363	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			A	109110537	T	A	109110537	2	1	23	1	0	0	0	0	0	0	0	1	9214	1625	57	5		5	MAN2A1	5	109110537	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	396208	109110537	71804723	1384	17840										
MAN2A1	4124	hgsc.bcm.edu	37	chr5	109110591	109110591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccgctactgtgaatacacGgaatgggatttacagtttaa	9	7	0	1	rs61735369	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:109110591G>A	ENST00000261483.4	+	8	2351	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	433					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTGAATACACGGAATGGGATT	0.373													G|||	350	0.0698882	0.1452	0.0476	5008	,	,		14544	0.0377		0.0696	False		,,,				2504	0.0174				p.T433T		Atlas-SNP	.											.	MAN2A1	136	.	0			c.G1299A						PASS	.	G		503,3901	229.4+/-244.0	26,451,1725	73	74	74		1299	-3.2	0	5	dbSNP_129	74	519,8079	145.9+/-201.5	11,497,3791	no	coding-synonymous	MAN2A1	NM_002372.2		37,948,5516	AA,AG,GG		6.0363,11.4214,7.8603		433/1145	109110591	1022,11980	2202	4299	6501	SO:0001819	synonymous_variant	4124	exon8			ATACACGGAATGG		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1299G>A	5.37:g.109110591G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	115	61	0.530435	NM_002372	Q16767	Silent	SNP	ENST00000261483.4	37	CCDS34209.1																																																																																			G|0.920;A|0.080	0.080	strong		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			A	109110591	G	A	109110591	2	1	23	1	0	0	0	0	0	0	0	1	9214	1103	39	1		1	MAN2A1	5	109110591	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	54	109110591	71804669	1385	17841										
C5orf13	9315	hgsc.bcm.edu	37	chr5	111066697	111066697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagggaggcagcgtttgtcTcatcgttcttcttgcggttc	12	10	4	0	rs11559	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:111066697T>C	ENST00000379671.3	-	5	392	c.128A>G	c.(127-129)gAg>gGg	p.E43G	STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000450761.2_Missense_Mutation_p.E43G|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.E43G|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E43G|NREP_ENST00000509427.1_Missense_Mutation_p.E43G|NREP_ENST00000446294.2_Missense_Mutation_p.E43G|NREP_ENST00000419114.2_Missense_Mutation_p.E43G|NREP_ENST00000395634.3_Missense_Mutation_p.E87G|NREP_ENST00000508870.1_Missense_Mutation_p.E43G|NREP_ENST00000453526.2_Missense_Mutation_p.E43G|NREP_ENST00000509025.1_Intron|NREP_ENST00000455559.2_Missense_Mutation_p.E43G|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509979.1_3'UTR	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	43			E -> G (in dbSNP:rs11559).		axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCGTTTGTCTCATCGTTCTT	0.478													T|||	345	0.0688898	0.0151	0.036	5008	,	,		17682	0.2123		0.0427	False		,,,				2504	0.044				p.E87G		Atlas-SNP	.											C5orf13_ENST00000395634,brain,glioma,0,2	.	.	2	0			c.A260G						PASS	.	T	GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU,GLY/GLU	133,4271	96.7+/-135.4	3,127,2072	173	142	153		230,260,128,128,128,128,128,128,128,128,128	0.3	0	5	dbSNP_52	153	477,8123	140.3+/-196.8	10,457,3833	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	C5orf13	NM_001142474.1,NM_001142475.1,NM_001142476.1,NM_001142477.1,NM_001142478.1,NM_001142479.1,NM_001142480.1,NM_001142481.1,NM_001142482.1,NM_001142483.1,NM_004772.2	98,98,98,98,98,98,98,98,98,98,98	13,584,5905	CC,CT,TT		5.5465,3.02,4.6909	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	77/103,87/113,43/69,43/69,43/69,43/69,43/69,43/69,43/69,43/69,43/69	111066697	610,12394	2202	4300	6502	SO:0001583	missense	9315	exon4			TTTGTCTCATCGT	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"neuronal protein 3.1"	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.128A>G	5.37:g.111066697T>C	ENSP00000368993:p.Glu43Gly	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	110	58	0.527273	NM_001142475	B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	CCDS4105.1	182	0.08333333333333333	8	0.016260162601626018	14	0.03867403314917127	129	0.22552447552447552	31	0.040897097625329816	T	1.341	-0.594183	0.03771	0.0302	0.055465	ENSG00000134986	ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100	T;T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	0.269	0.15631	.	0.487688	0.20424	N	0.092601	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.15141	0.012;0.012;0.004	B;B;B	0.16722	0.016;0.016;0.011	T	0.10291	-1.0636	8	0.39692	T	0.17	-0.6214	3.0237	0.06084	0.1154:0.1293:0.1203:0.635	rs11559;rs3797721	43;87;43	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	G	43;43;43;43;87;43;43;43;43;43;43;43	ENSP00000368993:E43G;ENSP00000257435:E43G;ENSP00000408839:E43G;ENSP00000402965:E43G;ENSP00000378996:E87G;ENSP00000416617:E43G;ENSP00000399766:E43G;ENSP00000422630:E43G;ENSP00000403383:E43G;ENSP00000392559:E43G;ENSP00000427149:E43G;ENSP00000427476:E43G	ENSP00000257435:E43G	E	-	2	0	C5orf13	111094596	0.431000	0.25546	0.001000	0.08648	0.019000	0.09904	2.033000	0.41136	0.101000	0.17610	-0.327000	0.08410	GAG	T|0.940;C|0.060	0.060	strong		0.478	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		C	111066697	T	C	111066697	3	2	23	1	0	0	0	0	1	0	0	0	2282	1551	54	3	82	3	C5orf13	5	111066697	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1956106	111066697	69848563	1386	17842										
EPB41L4A	64097	hgsc.bcm.edu	37	chr5	111500816	111500817	+	Splice_Site	INS	-	-	TAAAA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttagacccatttcttctcINStaaaatatatttgaaaaatg					rs145708081|rs369027426		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:111500816_111500817insTAAAA	ENST00000261486.5	-	23	2209		c.e23-1		EPB41L4A-AS1_ENST00000413221.2_lincRNA|EPB41L4A_ENST00000507810.1_Intron	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CATTTCTTCTCTAAAATATATT	0.317																																					.		Atlas-Indel	.											.	EPB41L4A	130	.	0			c.1933-1->TTTTA						PASS	.			3408,36		1689,30,3						5.3	1		dbSNP_134	59	7446,316		3600,246,35	no	splice-3	EPB41L4A	NM_022140.3		5289,276,38	A1A1,A1R,RR		4.0711,1.0453,3.1412				10854,352				SO:0001630	splice_region_variant	64097	exon24			.	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1933-1->TTTTA	5.37:g.111500817_111500821dupTAAAA		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	117	43	0.367521	NM_022140	A4FUI6	Splice_Site	INS	ENST00000261486.5	37	CCDS43350.1																																																																																			-|0.025;TAAAA|0.975	0.975	strong		0.317	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Intron	TAAAA	111500817	-	TAAAA	111500816	8	5	23	1	0	1	1	0	0	0	1	0	5155	927	32	0	132	0	EPB41L4A	5	111500816	Splice_Site	INS	-	TCGA-GR-7353-01A-11D-2210-10	434119	111500816	69414444	1387	17843										
TSSK1B	83942	hgsc.bcm.edu	37	chr5	112769997	112769997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacctctggggccgcataCgctggtgacccacagaaggt	13	13	1	2	rs34936289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:112769997C>T	ENST00000390666.3	-	1	731	c.540G>A	c.(538-540)gcG>gcA	p.A180A	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGGCCGCATACGCTGGTGACC	0.572													C|||	657	0.13119	0.3253	0.0634	5008	,	,		20988	0.0962		0.0467	False		,,,				2504	0.0399				p.A180A		Atlas-SNP	.											TSSK1B_ENST00000390666,colon,carcinoma,-1,2	TSSK1B	89	2	0			c.G540A						scavenged	.	C	,	1163,3241	406.6+/-333.9	147,869,1186	60	59	60		,540	-2.5	1	5	dbSNP_126	60	453,8147	135.1+/-192.4	13,427,3860	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	160,1296,5046	TT,TC,CC		5.2674,26.4078,12.4269	,	,180/368	112769997	1616,11388	2202	4300	6502	SO:0001819	synonymous_variant	83942	exon1			CGCATACGCTGGT	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.540G>A	5.37:g.112769997C>T		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	88	43	0.488636	NM_032028	B2R8D9	Silent	SNP	ENST00000390666.3	37	CCDS4112.1																																																																																			C|0.896;T|0.104	0.104	strong		0.572	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		T	112769997	C	T	112769997	2	4	23	1	0	0	0	0	0	0	0	1	16665	523	19	1		1	TSSK1B	5	112769997	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1269181	112769997	68145263	1388	17844										
MCC	4163	hgsc.bcm.edu	37	chr5	112823998	112823998	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaagaggcgccgcatcctCtcctcctcgccggtgctgga	13	15	1	1	rs348943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:112823998C>T	ENST00000408903.3	-	1	529	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCGCATCCTCTCCTCCTCGC	0.716													C|||	2519	0.502995	0.3298	0.4524	5008	,	,		10097	0.6726		0.494	False		,,,				2504	0.6074				p.E38E		Atlas-SNP	.											.	MCC	234	.	0			c.G114A						PASS	.	C		1293,2851		203,887,982	39	45	43		114	3.5	1	5	dbSNP_79	43	4052,4332		972,2108,1112	yes	coding-synonymous	MCC	NM_001085377.1		1175,2995,2094	TT,TC,CC		48.3302,31.2017,42.6644		38/1020	112823998	5345,7183	2072	4192	6264	SO:0001819	synonymous_variant	4163	exon1			CATCCTCTCCTCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.114G>A	5.37:g.112823998C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	83	80	0.963855	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000408903.3	37	CCDS43351.1																																																																																			C|0.505;T|0.495	0.495	strong		0.716	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		T	112823998	C	T	112823998	2	4	23	1	0	0	0	0	0	0	0	1	9373	912	32	2		2	MCC	5	112823998	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	54001	112823998	68091262	1389	17845										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112889374	112889374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacaagcggtttgctgacaGtacacataggtaagggctaa	12	7	0	2	rs10071816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:112889374G>A	ENST00000161863.4	+	14	2168	c.1955G>A	c.(1954-1956)aGt>aAt	p.S652N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S652N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	652	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		S -> N (in dbSNP:rs10071816).		ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTTGCTGACAGTACACATAGG	0.398													A|||	1672	0.333866	0.6172	0.4265	5008	,	,		15678	0.2083		0.1909	False		,,,				2504	0.1616				p.S652N		Atlas-SNP	.											.	YTHDC2	118	.	0			c.G1955A						PASS	.	A	ASN/SER	2532,1872	539.9+/-375.4	746,1040,416	141	141	141		1955	1.6	0.2	5	dbSNP_119	141	1581,7019	743.6+/-407.2	140,1301,2859	yes	missense	YTHDC2	NM_022828.3	46	886,2341,3275	AA,AG,GG		18.3837,42.5068,31.6287	benign	652/1431	112889374	4113,8891	2202	4300	6502	SO:0001583	missense	64848	exon14			CTGACAGTACACA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1955G>A	5.37:g.112889374G>A	ENSP00000161863:p.Ser652Asn	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	725	0.33195970695970695	324	0.6585365853658537	134	0.3701657458563536	123	0.21503496503496503	144	0.18997361477572558	A	0	-2.651789	0.00109	0.574932	0.183837	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06933	4.22;3.24	5.38	1.65	0.23941	Helicase, C-terminal (2);	0.343223	0.32836	N	0.005589	T	0.00012	0.0000	N	0.11927	0.2	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.42498	-0.9448	9	0.02654	T	1	.	12.1875	0.54247	0.7907:0.0:0.2093:0.0	rs10071816;rs57240370;rs10071816	652	Q9H6S0	YTDC2_HUMAN	N	652;652;562	ENSP00000161863:S652N;ENSP00000423101:S652N	ENSP00000161863:S652N	S	+	2	0	YTHDC2	112917273	0.970000	0.33590	0.154000	0.22540	0.067000	0.16453	1.347000	0.33975	-0.510000	0.06523	-2.276000	0.00273	AGT	G|0.681;A|0.319	0.319	strong		0.398	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		A	112889374	G	A	112889374	3	1	23	1	0	0	0	0	1	0	0	0	17494	1029	36	2	2009	2	YTHDC2	5	112889374	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	65376	112889374	68025886	1390	17846										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112926755	112926755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagggctcaaaatctccttcGccaagaccaaacatgcctgt	7	13	2	1	rs2303718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:112926755G>A	ENST00000161863.4	+	27	4056	c.3843G>A	c.(3841-3843)tcG>tcA	p.S1281S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1281	Ser-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATCTCCTTCGCCAAGACCAA	0.368													G|||	653	0.130391	0.3162	0.0634	5008	,	,		17480	0.1012		0.0497	False		,,,				2504	0.0399				p.S1281S		Atlas-SNP	.											YTHDC2,NS,carcinoma,+1,1	YTHDC2	118	1	0			c.G3843A						PASS	.	G		1164,3240	399.2+/-331.1	161,842,1199	50	50	50		3843	1.6	1	5	dbSNP_100	50	452,8148	134.9+/-192.2	14,424,3862	no	coding-synonymous	YTHDC2	NM_022828.3		175,1266,5061	AA,AG,GG		5.2558,26.4305,12.4269		1281/1431	112926755	1616,11388	2202	4300	6502	SO:0001819	synonymous_variant	64848	exon27			TCCTTCGCCAAGA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3843G>A	5.37:g.112926755G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_022828	B2RP66	Silent	SNP	ENST00000161863.4	37	CCDS4113.1																																																																																			G|0.869;T|0.001	.	strong		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		A	112926755	G	A	112926755	2	1	23	1	0	0	0	0	0	0	0	1	17494	1074	38	1		1	YTHDC2	5	112926755	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	37381	112926755	67988505	1391	17847										
PGGT1B	5229	hgsc.bcm.edu	37	chr5	114557642	114557643	+	Frame_Shift_Ins	INS	-	-	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgttcaattctttttctgINSaaaaaacttcttctagttta							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:114557642_114557643insA	ENST00000419445.1	-	7	741_742	c.721_722insT	c.(721-723)tcafs	p.S241fs	PGGT1B_ENST00000379615.3_Intron|PGGT1B_ENST00000514178.1_5'UTR	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	241					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		TTCTTTTTCTGAAAAAACTTCT	0.351																																					p.S241fs		Pindel,Atlas-Indel	.											.	PGGT1B	26	.	0			c.722_723insT						PASS	.																																			SO:0001589	frameshift_variant	5229	exon7			.		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.722dupT	5.37:g.114557648_114557648dupA	ENSP00000404676:p.Ser241fs	Somatic	475	.	.		WXS	Illumina HiSeq	Phase_I	423	73	0.173	NM_005023	Q5MJP9	Frame_Shift_Ins	INS	ENST00000419445.1	37	CCDS4116.1																																																																																			.	.	none		0.351	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		A	114557643	-	A	114557642	7	5	23	1	0	1	1	0	0	0	0	0	11789	1294	45	0	423	0	PGGT1B	5	114557642	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	1630887	114557642	66357618	1392	17848										
ATG12	9140	hgsc.bcm.edu	37	chr5	115177207	115177207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttcccctccagcagcaaTtgaagtaggaagctgcaaca	8	13	0	1	rs74844425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:115177207T>C	ENST00000509910.1	-	1	348	c.43A>G	c.(43-45)Att>Gtt	p.I15V	ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000274459.4_Missense_Mutation_p.I62V|ATG12_ENST00000500945.2_Missense_Mutation_p.I15V			O94817	ATG12_HUMAN	autophagy related 12	15					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CCAGCAGCAATTGAAGTAGGA	0.607													T|||	69	0.013778	0.0061	0.0159	5008	,	,		14266	0.002		0.0258	False		,,,				2504	0.0225				p.I15V		Atlas-SNP	.											.	ATG12	14	.	0			c.A43G						PASS	.	T	VAL/ILE	43,4361	45.3+/-79.5	0,43,2159	77	85	82		43	-4.3	0	5	dbSNP_131	82	222,8378	91.6+/-153.7	5,212,4083	yes	missense	ATG12	NM_004707.3	29	5,255,6242	CC,CT,TT		2.5814,0.9764,2.0378	benign	15/141	115177207	265,12739	2202	4300	6502	SO:0001583	missense	9140	exon1			CAGCAATTGAAGT	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.43A>G	5.37:g.115177207T>C	ENSP00000425107:p.Ile15Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	90	39	0.433333	NM_004707	Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	CCDS4122.2	28	0.01282051282051282	3	0.006097560975609756	7	0.019337016574585635	2	0.0034965034965034965	16	0.021108179419525065	T	11.03	1.518606	0.27211	0.009764	0.025814	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.88	-4.3	0.03710	.	1.771270	0.02653	N	0.106639	T	0.07954	0.0199	N	0.08118	0	0.25174	N	0.990258	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14090	-1.0485	9	0.25751	T	0.34	-24.0427	9.1821	0.37148	0.0:0.6604:0.1496:0.1899	.	15;62	O94817;C1IDX9	ATG12_HUMAN;.	V	62;15;15	.	ENSP00000274459:I62V	I	-	1	0	ATG12	115205106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.491000	0.06474	-0.369000	0.08028	-0.250000	0.11733	ATT	A|0.000;C|0.019;T|0.980	0.019	strong		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		C	115177207	T	C	115177207	3	2	23	1	0	0	0	0	1	0	0	0	1090	1493	52	2	395	2	ATG12	5	115177207	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	619565	115177207	65738053	1393	17849										
AQPEP	206338	hgsc.bcm.edu	37	chr5	115298898	115298898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgctggagctcagtgagcCcctgaaacctggtagcagct	14	11	1	2	rs145336539	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:115298898C>T	ENST00000357872.4	+	1	708	c.584C>T	c.(583-585)cCc>cTc	p.P195L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		195						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CTCAGTGAGCCCCTGAAACCT	0.622													C|||	16	0.00319489	0.0008	0.0086	5008	,	,		14129	0.0		0.008	False		,,,				2504	0.001				p.P195L		Atlas-SNP	.											.	.	.	.	0			c.C584T						PASS	.	C	LEU/PRO	3,4397		0,3,2197	21	22	22		584	4.6	0.9	5	dbSNP_134	22	39,8545		0,39,4253	yes	missense	AQPEP	NM_173800.4	98	0,42,6450	TT,TC,CC		0.4543,0.0682,0.3235	benign	195/991	115298898	42,12942	2200	4292	6492	SO:0001583	missense	0	exon1			GTGAGCCCCTGAA																												ENST00000357872.4:c.584C>T	5.37:g.115298898C>T	ENSP00000350541:p.Pro195Leu	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	131	56	0.427481	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	7	0.003205128205128205	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	8.710	0.911797	0.17907	6.82E-4	0.004543	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02656	4.21	4.6	4.6	0.57074	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.383950	0.04803	N	0.433838	T	0.03305	0.0096	L	0.43554	1.36	0.80722	D	1	B	0.27013	0.166	B	0.25614	0.062	T	0.41963	-0.9479	10	0.35671	T	0.21	.	12.9406	0.58340	0.0:1.0:0.0:0.0	.	195	Q6Q4G3	AMPQ_HUMAN	L	195;184	ENSP00000350541:P195L	ENSP00000350541:P195L	P	+	2	0	AC010282.1	115326797	0.002000	0.14202	0.891000	0.34965	0.178000	0.23041	1.441000	0.35035	2.105000	0.64084	0.655000	0.94253	CCC	C|0.997;T|0.003	0.003	strong		0.622	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115298898	C	T	115298898	3	4	23	1	0	0	0	0	1	0	0	0	834	623	22	2	586	2	AQPEP	5	115298898	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	121691	115298898	65616362	1394	17850										
AQPEP	206338	hgsc.bcm.edu	37	chr5	115338958	115338958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtattcccagaaatgcaaGtttcagattctgaccatgac	7	9	2	4	rs17138632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:115338958G>T	ENST00000357872.4	+	12	2042	c.1918G>T	c.(1918-1920)Gtt>Ttt	p.V640F	AQPEP_ENST00000395528.2_Missense_Mutation_p.V157F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		640			V -> F (in dbSNP:rs17138632).			integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGAAATGCAAGTTTCAGATTC	0.289													G|||	130	0.0259585	0.0015	0.0836	5008	,	,		14198	0.001		0.0298	False		,,,				2504	0.0399				p.V640F		Atlas-SNP	.											FLJ90650,NS,carcinoma,0,1	.	.	1	0			c.G1918T						PASS	.	G	PHE/VAL	25,4377	31.7+/-61.6	0,25,2176	51	56	55		1918	-0.9	1	5	dbSNP_123	55	272,8304	100.1+/-161.6	4,264,4020	yes	missense	AQPEP	NM_173800.4	50	4,289,6196	TT,TG,GG		3.1716,0.5679,2.2885	benign	640/991	115338958	297,12681	2201	4288	6489	SO:0001583	missense	0	exon12			ATGCAAGTTTCAG																												ENST00000357872.4:c.1918G>T	5.37:g.115338958G>T	ENSP00000350541:p.Val640Phe	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	110	46	0.418182	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	59	0.027014652014652016	3	0.006097560975609756	31	0.0856353591160221	1	0.0017482517482517483	24	0.0316622691292876	G	11.64	1.698549	0.30142	0.005679	0.031716	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.23552	1.9;1.9	5.03	-0.942	0.10398	.	0.861260	0.10039	N	0.723709	T	0.00580	0.0019	L	0.57536	1.79	0.24475	N	0.994371	P	0.39282	0.666	B	0.33521	0.165	T	0.14144	-1.0483	10	0.09843	T	0.71	.	4.9292	0.13909	0.4644:0.3211:0.2146:0.0	rs17138632;rs52805082;rs17138632	640	Q6Q4G3	AMPQ_HUMAN	F	157;640;629	ENSP00000378899:V157F;ENSP00000350541:V640F	ENSP00000350541:V640F	V	+	1	0	AC010282.1	115366857	0.986000	0.35501	0.999000	0.59377	0.995000	0.86356	0.095000	0.15127	0.102000	0.17638	0.460000	0.39030	GTT	G|0.972;T|0.028	0.028	strong		0.289	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115338958	G	T	115338958	3	4	23	1	0	0	0	0	1	0	0	0	834	1029	36	4	1964	4	AQPEP	5	115338958	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	40060	115338958	65576302	1395	17851										
AQPEP	206338	hgsc.bcm.edu	37	chr5	115351066	115351066	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaaacaaagaagaaaagatTcaacttgcttatgcaatgag	7	6	1	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:115351066T>A	ENST00000357872.4	+	17	2692	c.2568T>A	c.(2566-2568)atT>atA	p.I856I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		856						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAGAAAAGATTCAACTTGCTT	0.343																																					p.I856I		Atlas-SNP	.											FLJ90650,caecum,carcinoma,0,1	.	.	1	0			c.T2568A						scavenged	.						91	87	88					5																	115351066		2202	4300	6502	SO:0001819	synonymous_variant	0	exon17			AAAGATTCAACTT																												ENST00000357872.4:c.2568T>A	5.37:g.115351066T>A		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	35	3	0.0857143	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																			.	.	none		0.343	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115351066	T	A	115351066	2	1	23	1	0	0	0	0	0	0	0	1	834	1771	62	5		5	AQPEP	5	115351066	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12108	115351066	65564194	1396	17852										
TNFAIP8	25816	hgsc.bcm.edu	37	chr5	118728953	118728953	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catggacgggttaataatgtGtttgatcatttttcagattg	10	4	2	2	rs3203922	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:118728953G>C	ENST00000503646.1	+	3	1162	c.474G>C	c.(472-474)gtG>gtC	p.V158V	TNFAIP8_ENST00000504642.1_Silent_p.V160V|TNFAIP8_ENST00000504771.2_Silent_p.V158V|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.V170V|TNFAIP8_ENST00000274456.6_Silent_p.V148V			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	158					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTAATAATGTGTTTGATCATT	0.388													C|||	1348	0.269169	0.4039	0.2767	5008	,	,		19648	0.1151		0.2604	False		,,,				2504	0.2495				p.V158V		Atlas-SNP	.											.	TNFAIP8	12	.	0			c.G474C						PASS	.	C	,	1543,2325		302,939,693	99	101	101		444,474	3.8	1	5	dbSNP_105	101	2189,6151		266,1657,2247	no	coding-synonymous,coding-synonymous	TNFAIP8	NM_001077654.1,NM_014350.2	,	568,2596,2940	CC,CG,GG		26.247,39.8914,30.5701	,	148/189,158/199	118728953	3732,8476	1934	4170	6104	SO:0001819	synonymous_variant	25816	exon2			TAATGTGTTTGAT	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.474G>C	5.37:g.118728953G>C		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	174	76	0.436782	NM_014350	B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Silent	SNP	ENST00000503646.1	37	CCDS47258.1																																																																																			G|0.745;C|0.255	0.255	strong		0.388	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		C	118728953	G	C	118728953	2	2	23	1	0	0	0	0	0	0	0	1	16273	1364	48	4		4	TNFAIP8	5	118728953	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3377887	118728953	62186307	1397	17853										
FAM170A	340069	hgsc.bcm.edu	37	chr5	118969960	118969960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtgagggtaggtactcccCcctctgatgtgtccaccaga	11	12	1	3	rs328694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:118969960C>T	ENST00000515256.1	+	3	689	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	173			P -> S (in dbSNP:rs328694).		positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P173S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGGTACTCCCCCCTCTGATGT	0.542													C|||	2221	0.44349	0.3495	0.3876	5008	,	,		21739	0.495		0.4453	False		,,,				2504	0.5552				p.P173S		Atlas-SNP	.											FAM170A,NS,carcinoma,0,1	FAM170A	47	1	1	Substitution - Missense(1)	prostate(1)	c.C517T						PASS	.	C	SER/PRO,SER/PRO	1354,2620		238,878,871	91	95	94		376,517	2.1	0.1	5	dbSNP_79	94	3719,4641		851,2017,1312	yes	missense,missense	FAM170A	NM_001163991.1,NM_182761.3	74,74	1089,2895,2183	TT,TC,CC		44.4856,34.0715,41.1302	probably-damaging,probably-damaging	126/283,173/330	118969960	5073,7261	1987	4180	6167	SO:0001583	missense	340069	exon3			ACTCCCCCCTCTG	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.517C>T	5.37:g.118969960C>T	ENSP00000422684:p.Pro173Ser	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	134	58	0.432836	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		936	0.42857142857142855	172	0.34959349593495936	144	0.39779005524861877	299	0.5227272727272727	321	0.4234828496042216	C	10.32	1.318429	0.23994	0.340715	0.444856	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.42131	0.98	4.89	2.11	0.27256	.	0.000000	0.64402	D	0.000013	T	0.00012	0.0000	M	0.67953	2.075	0.80722	P	0.0	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.47129	-0.9141	8	.	.	.	-10.0542	3.7305	0.08491	0.171:0.5741:0.165:0.0898	rs328694;rs52831294;rs60487150;rs328694	126;173	D6RIE9;A1A519	.;F170A_HUMAN	S	126;173	ENSP00000422684:P173S	.	P	+	1	0	FAM170A	118997859	0.002000	0.14202	0.077000	0.20336	0.131000	0.20780	0.813000	0.27225	0.357000	0.24183	-0.136000	0.14681	CCC	C|0.562;T|0.438	0.438	strong		0.542	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		T	118969960	C	T	118969960	3	4	23	1	0	0	0	0	1	0	0	0	5489	623	22	2	527	2	FAM170A	5	118969960	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	241007	118969960	61945300	1398	17854										
FBN2	2201	hgsc.bcm.edu	37	chr5	127597518	127597518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactcgtagcatgcttctggGgacagagcattttcctcatc	9	12	2	1	rs10070365	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:127597518G>A	ENST00000508053.1	-	70	9248	c.8274C>T	c.(8272-8274)tcC>tcT	p.S2758S	FBN2_ENST00000262464.4_Silent_p.S2758S			P35556	FBN2_HUMAN	fibrillin 2	2758					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCTTCTGGGGACAGAGCAT	0.453													G|||	565	0.112819	0.1952	0.0865	5008	,	,		20024	0.0476		0.1243	False		,,,				2504	0.0757				p.S2758S		Atlas-SNP	.											.	FBN2	858	.	0			c.C8274T						PASS	.	G		764,3642	310.5+/-291.6	61,642,1500	233	198	210		8274	0.3	1	5	dbSNP_119	210	1038,7562	220.2+/-258.0	62,914,3324	no	coding-synonymous	FBN2	NM_001999.3		123,1556,4824	AA,AG,GG		12.0698,17.34,13.8551		2758/2913	127597518	1802,11204	2203	4300	6503	SO:0001819	synonymous_variant	2201	exon64			TTCTGGGGACAGA	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8274C>T	5.37:g.127597518G>A		Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	185	93	0.502703	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			G|0.871;A|0.129	0.129	strong		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127597518	G	A	127597518	2	1	23	1	0	0	0	0	0	0	0	1	5703	1219	43	2		2	FBN2	5	127597518	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8627558	127597518	53317742	1399	17855										
ISOC1	51015	hgsc.bcm.edu	37	chr5	128430757	128430757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaaggtgcgcctcgtgccgTtgcagatccaggtgggtcct	15	12	0	1	rs1127827	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:128430757T>C	ENST00000173527.5	+	1	314	c.298T>C	c.(298-300)Ttg>Ctg	p.L100L	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	100						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCTCGTGCCGTTGCAGATCCA	0.692													C|||	4039	0.80651	0.9682	0.7464	5008	,	,		11507	0.8661		0.6004	False		,,,				2504	0.7812				p.L100L		Atlas-SNP	.											.	ISOC1	26	.	0			c.T298C						PASS	.	C		3754,388		1706,342,23	17	21	20		298	3.4	1	5	dbSNP_86	20	5111,3281		1551,2009,636	no	coding-synonymous	ISOC1	NM_016048.2		3257,2351,659	CC,CT,TT		39.0968,9.3675,29.2724		100/299	128430757	8865,3669	2071	4196	6267	SO:0001819	synonymous_variant	51015	exon1			GTGCCGTTGCAGA	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.298T>C	5.37:g.128430757T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	30	10	0.333333	NM_016048	Q7Z770	Silent	SNP	ENST00000173527.5	37	CCDS43357.1																																																																																			T|0.232;C|0.768	0.768	strong		0.692	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		C	128430757	T	C	128430757	2	2	23	1	0	0	0	0	0	0	0	1	7862	1722	60	2		2	ISOC1	5	128430757	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	833239	128430757	52484503	1400	17856										
CDKL3	51265	hgsc.bcm.edu	37	chr5	133655067	133655067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatgaactatatctgccaaCaatccattaagctttggata	5	9	1	1	rs373913998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:133655067C>T	ENST00000265334.4	-	6	892	c.774G>A	c.(772-774)ttG>ttA	p.L258L	CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000523832.1_Silent_p.L258L|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435211.1_Silent_p.L258L|CDKL3_ENST00000523054.1_Silent_p.L69L|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000522501.1_5'UTR|CDKL3_ENST00000609654.1_Silent_p.L69L|CDKL3_ENST00000521118.1_Silent_p.L258L	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATCTGCCAACAATCCATTAA	0.428													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15912	0.0		0.002	False		,,,				2504	0.0				p.L258L		Atlas-SNP	.											.	CDKL3	76	.	0			c.G774A						PASS	.	C	,	0,3060		0,0,1530	87	84	85		774,774	1.5	1	5		85	13,6839		0,13,3413	no	coding-synonymous,coding-synonymous	CDKL3	NM_001113575.1,NM_016508.3	,	0,13,4943	TT,TC,CC		0.1897,0.0,0.1312	,	258/593,258/456	133655067	13,9899	1530	3426	4956	SO:0001819	synonymous_variant	51265	exon6			TGCCAACAATCCA	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.774G>A	5.37:g.133655067C>T		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	42	21	0.5	NM_001113575	D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	CCDS47264.1																																																																																			.	.	weak		0.428	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		T	133655067	C	T	133655067	2	4	23	1	0	0	0	0	0	0	0	1	3155	477	17	2		2	CDKL3	5	133655067	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5224310	133655067	47260193	1401	17857										
SAR1B	51128	hgsc.bcm.edu	37	chr5	133945288	133945288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcttttgactctaacagCctttcgtggtctgcacaatc	6	12	4	1	rs140899111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:133945288C>T	ENST00000402673.2	-	5	599	c.321G>A	c.(319-321)agG>agA	p.R107R	SAR1B_ENST00000509937.1_Silent_p.R39R|SAR1B_ENST00000502539.1_Silent_p.R39R|SAR1B_ENST00000439578.1_Silent_p.R107R|SAR1B_ENST00000507419.1_Silent_p.R39R	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTAACAGCCTTTCGTGGT	0.393													C|||	4	0.000798722	0.0	0.0	5008	,	,		20631	0.0		0.004	False		,,,				2504	0.0				p.R107R		Atlas-SNP	.											.	SAR1B	19	.	0			c.G321A						PASS	.	C	,	1,4405	2.1+/-5.4	0,1,2202	129	118	122		321,321	1.9	1	5	dbSNP_134	122	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous,coding-synonymous	SAR1B	NM_001033503.2,NM_016103.3	,	0,16,6487	TT,TC,CC		0.1744,0.0227,0.123	,	107/199,107/199	133945288	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	51128	exon6			TAACAGCCTTTCG	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.321G>A	5.37:g.133945288C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	145	56	0.386207	NM_001033503	D3DQA4|Q567T4	Silent	SNP	ENST00000402673.2	37	CCDS4177.1																																																																																			C|0.999;T|0.001	0.001	strong		0.393	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		T	133945288	C	T	133945288	2	4	23	1	0	0	0	0	0	0	0	1	13840	738	26	2		2	SAR1B	5	133945288	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	290221	133945288	46969972	1402	17858										
MYOT	9499	hgsc.bcm.edu	37	chr5	137221770	137221770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagagcaccaatgtttatctAcaaaccacagagcaaaaaag	6	9	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:137221770A>G	ENST00000239926.4	+	8	1432	c.1058A>G	c.(1057-1059)tAc>tGc	p.Y353C	MYOT_ENST00000509812.1_3'UTR|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.Y238C|MYOT_ENST00000421631.2_Missense_Mutation_p.Y169C|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	353	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATGTTTATCTACAAACCACAG	0.303																																					p.Y353C		Atlas-SNP	.											MYOT,NS,carcinoma,-1,1	MYOT	50	1	0			c.A1058G						scavenged	.						58	64	62					5																	137221770		2203	4300	6503	SO:0001583	missense	9499	exon8			TTATCTACAAACC	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1058A>G	5.37:g.137221770A>G	ENSP00000239926:p.Tyr353Cys	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	175	2	0.0114286	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315795	0.60524	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66815	-0.23;-0.23;-0.23	5.1	-3.07	0.05363	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.814724	0.10978	N	0.613057	T	0.54983	0.1892	L	0.39898	1.24	0.25734	N	0.985234	P	0.46327	0.876	B	0.44085	0.44	T	0.53337	-0.8453	10	0.66056	D	0.02	.	7.6241	0.28202	0.3697:0.0:0.0726:0.5577	.	353	Q9UBF9	MYOTI_HUMAN	C	353;169;238	ENSP00000239926:Y353C;ENSP00000391185:Y169C;ENSP00000426281:Y238C	ENSP00000239926:Y353C	Y	+	2	0	MYOT	137249669	0.997000	0.39634	0.986000	0.45419	0.995000	0.86356	1.259000	0.32956	-0.273000	0.09246	0.482000	0.46254	TAC	.	.	none		0.303	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		G	137221770	A	G	137221770	3	3	23	1	0	0	0	0	1	0	0	0	10094	391	14	2	1084	2	MYOT	5	137221770	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3276482	137221770	43693490	1403	17859										
FAM13B	51306	hgsc.bcm.edu	37	chr5	137278682	137278682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtactgcagttttcaacaTatcacctaactcagaggaca	6	11	3	1	rs33956817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:137278682T>C	ENST00000033079.3	-	21	2855	c.2404A>G	c.(2404-2406)Atg>Gtg	p.M802V	FAM13B_ENST00000425075.2_Missense_Mutation_p.M678V|FAM13B_ENST00000420893.2_Missense_Mutation_p.M774V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	802			M -> V (in dbSNP:rs33956817).		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GTTTTCAACATATCACCTAAC	0.383													T|||	140	0.0279553	0.0295	0.0418	5008	,	,		16171	0.0		0.0487	False		,,,				2504	0.0235				p.M802V		Atlas-SNP	.											.	FAM13B	46	.	0			c.A2404G						PASS	.	T	VAL/MET,VAL/MET,VAL/MET	119,4287	90.6+/-129.3	0,119,2084	118	117	118		2320,2032,2404	3.7	1	5	dbSNP_126	118	384,8216	124.6+/-183.3	9,366,3925	yes	missense,missense,missense	FAM13B	NM_001101800.1,NM_001101801.1,NM_016603.2	21,21,21	9,485,6009	CC,CT,TT		4.4651,2.7009,3.8674	benign,benign,benign	774/888,678/792,802/916	137278682	503,12503	2203	4300	6503	SO:0001583	missense	51306	exon21			TCAACATATCACC	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2404A>G	5.37:g.137278682T>C	ENSP00000033079:p.Met802Val	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	84	37	0.440476	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	76	0.0347985347985348	17	0.034552845528455285	22	0.06077348066298342	0	0.0	37	0.048812664907651716	T	7.885	0.731049	0.15507	0.027009	0.044651	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.21191	3.18;2.02;3.13	6.07	3.66	0.41972	.	0.451157	0.24851	N	0.035084	T	0.00998	0.0033	N	0.14661	0.345	0.22401	N	0.999132	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32375	-0.9909	10	0.15952	T	0.53	-0.2236	7.4229	0.27081	0.0:0.0717:0.1445:0.7837	rs33956817	678;774;802	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	V	802;678;774	ENSP00000033079:M802V;ENSP00000394669:M678V;ENSP00000388521:M774V	ENSP00000033079:M802V	M	-	1	0	FAM13B	137306581	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.931000	0.40134	1.072000	0.40860	0.533000	0.62120	ATG	T|0.960;C|0.040	0.040	strong		0.383	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			C	137278682	T	C	137278682	3	2	23	1	0	0	0	0	1	0	0	0	5453	1406	49	2	355	2	FAM13B	5	137278682	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	56912	137278682	43636578	1404	17860										
CDC23	8697	hgsc.bcm.edu	37	chr5	137533901	137533901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttaccaattacacagcaCgtttctacacgatatttatc	3	11	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:137533901C>T	ENST00000394886.2	-	9	1029	c.999G>A	c.(997-999)acG>acA	p.T333T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	333					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACACAGCACGTTTCTACAC	0.313																																					p.T333T		Atlas-SNP	.											.	CDC23	46	.	0			c.G999A						PASS	.						77	81	79					5																	137533901		2203	4300	6503	SO:0001819	synonymous_variant	8697	exon9			ACAGCACGTTTCT	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.999G>A	5.37:g.137533901C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	93	48	0.516129	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	CCDS4200.2																																																																																			.	.	none		0.313	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			T	137533901	C	T	137533901	2	4	23	1	0	0	0	0	0	0	0	1	3061	523	19	1		1	CDC23	5	137533901	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	255219	137533901	43381359	1405	17861										
CDC25C	995	hgsc.bcm.edu	37	chr5	137665323	137665323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcgaaagatcgaggcaacGttttggggttcctctgttga	12	7	1	2	rs3734166	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:137665323G>A	ENST00000323760.6	-	3	486	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.R70C|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000514555.1_Missense_Mutation_p.R70C|CDC25C_ENST00000513970.1_Missense_Mutation_p.R70C	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	70			R -> C (in dbSNP:rs3734166). {ECO:0000269|PubMed:11139144, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2195549}.		cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGAGGCAACGTTTTGGGGTT	0.398													G|||	1954	0.390176	0.4773	0.2983	5008	,	,		19081	0.6101		0.3072	False		,,,				2504	0.1963				p.R70C		Atlas-SNP	.											.	CDC25C	37	.	0			c.C208T						PASS	.	G	CYS/ARG,	1964,2442	553.9+/-378.9	435,1094,674	124	119	121		208,	-1	1	5	dbSNP_107	121	2388,6212	396.6+/-345.4	337,1714,2249	yes	missense,intron	CDC25C	NM_001790.3,NM_022809.2	180,	772,2808,2923	AA,AG,GG		27.7674,44.5756,33.4615	benign,	70/474,	137665323	4352,8654	2203	4300	6503	SO:0001583	missense	995	exon3			GGCAACGTTTTGG	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.208C>T	5.37:g.137665323G>A	ENSP00000321656:p.Arg70Cys	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	142	72	0.507042	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	889	0.40705128205128205	230	0.46747967479674796	96	0.26519337016574585	333	0.5821678321678322	230	0.3034300791556728	G	12.56	1.973598	0.34848	0.445756	0.277674	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.4	-0.963	0.10330	.	0.512067	0.18564	N	0.137526	T	0.00012	0.0000	N	0.04297	-0.235	0.09310	P	0.999999838467	B;B;B;B	0.14012	0.009;0.005;0.001;0.003	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.42599	-0.9442	9	0.37606	T	0.19	0.0708	7.8092	0.29221	0.6152:0.0:0.3848:0.0	rs3734166;rs17851708;rs57255403;rs3734166	87;87;70;70	G3V1P6;B4DX61;P30307-2;P30307	.;.;.;MPIP3_HUMAN	C	70;70;70;87;70;70;87	ENSP00000321656:R70C;ENSP00000348898:R70C;ENSP00000424795:R70C;ENSP00000425470:R70C;ENSP00000427251:R70C;ENSP00000427105:R87C	ENSP00000321656:R70C	R	-	1	0	CDC25C	137693222	0.513000	0.26194	0.993000	0.49108	0.961000	0.63080	-0.842000	0.04354	-0.138000	0.11434	0.563000	0.77884	CGT	A|0.359;C|0.003	0.359	strong		0.398	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			A	137665323	G	A	137665323	3	1	23	1	0	0	0	0	1	0	0	0	3064	1145	40	1	1261	1	CDC25C	5	137665323	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131422	137665323	43249937	1406	17862										
SIL1	64374	hgsc.bcm.edu	37	chr5	138456815	138456815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctttggtttcttttctctcTgtttctttggtgctgctctt	8	9	5	0	rs3088052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:138456815T>C	ENST00000394817.2	-	3	292	c.153A>G	c.(151-153)acA>acG	p.T51T	SIL1_ENST00000265195.5_Silent_p.T51T|SIL1_ENST00000509534.1_Silent_p.T58T	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	51	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTTTCTCTCTGTTTCTTTGG	0.552									Marinesco-Sjgren syndrome				C|||	2138	0.426917	0.6861	0.4366	5008	,	,		19994	0.1815		0.4076	False		,,,				2504	0.3425				p.T51T		Atlas-SNP	.											.	SIL1	31	.	0			c.A153G						PASS	.	C	,	2983,1423	463.0+/-353.4	1006,971,226	140	147	145		153,153	-2	0.5	5	dbSNP_102	145	3705,4895	619.8+/-397.0	810,2085,1405	no	coding-synonymous,coding-synonymous	SIL1	NM_001037633.1,NM_022464.4	,	1816,3056,1631	CC,CT,TT		43.0814,32.2969,48.5776	,	51/462,51/462	138456815	6688,6318	2203	4300	6503	SO:0001819	synonymous_variant	64374	exon4	Familial Cancer Database	Marinesco-Sjogren syndrome	TCTCTCTGTTTCT	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.153A>G	5.37:g.138456815T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	73	11	0.150685	NM_001037633	D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	CCDS4209.1																																																																																			T|0.513;C|0.487	0.487	strong		0.552	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		C	138456815	T	C	138456815	2	2	23	1	0	0	0	0	0	0	0	1	14321	1567	55	3		3	SIL1	5	138456815	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	791492	138456815	42458445	1407	17863										
NRG2	9542	hgsc.bcm.edu	37	chr5	139422232	139422232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttggagctggagccgccGgctgggaccagcccctgtac	15	14	0	0	rs144634106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:139422232G>A	ENST00000361474.1	-	1	647	c.423C>T	c.(421-423)gcC>gcT	p.A141A	NRG2_ENST00000289422.7_Silent_p.A141A|NRG2_ENST00000358522.3_Silent_p.A141A|NRG2_ENST00000394770.1_Silent_p.A141A|NRG2_ENST00000545385.1_Silent_p.A141A|NRG2_ENST00000541337.1_Silent_p.A141A|NRG2_ENST00000289409.4_Silent_p.A141A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	141					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCCGGCTGGGACCA	0.697													G|||	134	0.0267572	0.0272	0.0403	5008	,	,		7889	0.0		0.0616	False		,,,				2504	0.0082				p.A141A		Atlas-SNP	.											.	NRG2	69	.	0			c.C423T						PASS	.	G	,,,,	145,4055		4,137,1959	6	8	7		423,423,423,423,423	-0.9	1	5	dbSNP_134	7	503,7855		16,471,3692	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NRG2	NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2	,,,,	20,608,5651	AA,AG,GG		6.0182,3.4524,5.1601	,,,,	141/785,141/851,141/845,141/859,141/853	139422232	648,11910	2100	4179	6279	SO:0001819	synonymous_variant	9542	exon1			GCCGCCGGCTGGG		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.423C>T	5.37:g.139422232G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	64	37	0.578125	NM_013982		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																			G|0.965;A|0.035	0.035	strong		0.697	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139422232	G	A	139422232	2	1	23	1	0	0	0	0	0	0	0	1	10648	1103	39	1		1	NRG2	5	139422232	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	965417	139422232	41493028	1408	17864										
NDUFA2	4695	hgsc.bcm.edu	37	chr5	140026868	140026868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcccagagcttgggctgcaCatcggagcattcgcggatta	14	11	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140026868C>T	ENST00000252102.4	-	2	382	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	IK_ENST00000417647.2_5'Flank|NDUFA2_ENST00000512088.1_Missense_Mutation_p.V61M|NDUFA2_ENST00000510680.1_5'UTR|MIR3655_ENST00000581765.1_RNA	NM_001185012.1|NM_002488.4	NP_001171941.1|NP_002479.1	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa	61					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGCTGCACATCGGAGCAT	0.627																																					p.V61M		Atlas-SNP	.											NDUFA2,colon,carcinoma,+2,1	NDUFA2	13	1	0			c.G181A						scavenged	.						82	73	76					5																	140026868		2203	4300	6503	SO:0001583	missense	4695	exon2			GCTGCACATCGGA	AF047185	CCDS4234.1, CCDS54911.1	5q31.2	2011-07-04	2002-08-29		ENSG00000131495	ENSG00000131495		"Mitochondrial respiratory chain complex / Complex I"	7685	protein-coding gene	gene with protein product	"complex I B8 subunit"	602137	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)"			9425316, 9763676	Standard	NM_002488		Approved	B8	uc003lgp.3	O43678	OTTHUMG00000129505	ENST00000252102.4:c.181G>A	5.37:g.140026868C>T	ENSP00000252102:p.Val61Met	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	150	3	0.02	NM_001185012	D6RJD6|Q6IAY8	Missense_Mutation	SNP	ENST00000252102.4	37	CCDS4234.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997269	0.93167	.	.	ENSG00000131495	ENST00000252102;ENST00000512088	.	.	.	6.04	4.22	0.49857	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.76887	-0.2793	8	0.48119	T	0.1	-6.8192	11.2839	0.49210	0.127:0.8067:0.0:0.0663	.	61	O43678	NDUA2_HUMAN	M	61	.	ENSP00000252102:V61M	V	-	1	0	NDUFA2	140007052	0.998000	0.40836	0.929000	0.37066	0.977000	0.68977	3.436000	0.52856	1.577000	0.49804	0.563000	0.77884	GTG	.	.	none		0.627	NDUFA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251679.2	NM_002488		T	140026868	C	T	140026868	3	4	23	1	0	0	0	0	1	0	0	0	10264	478	17	2	153	2	NDUFA2	5	140026868	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	604636	140026868	40888392	1409	17865										
WDR55	54853	hgsc.bcm.edu	37	chr5	140048707	140048707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccagtgaaggtaccatctAcctcttcaattggaatggct	8	11	3	1	rs35983033	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140048707A>G	ENST00000358337.5	+	6	941	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	235			Y -> C (in dbSNP:rs35983033).		rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACCATCTACCTCTTCAAT	0.527													A|||	237	0.0473243	0.0045	0.0692	5008	,	,		21419	0.0437		0.0726	False		,,,				2504	0.0675				p.Y235C		Atlas-SNP	.											.	WDR55	27	.	0			c.A704G						PASS	.	A	CYS/TYR	70,4336	64.1+/-101.4	0,70,2133	88	88	88		704	5	1	5	dbSNP_126	88	803,7797	186.9+/-234.3	40,723,3537	yes	missense	WDR55	NM_017706.4	194	40,793,5670	GG,GA,AA		9.3372,1.5887,6.7123	probably-damaging	235/384	140048707	873,12133	2203	4300	6503	SO:0001583	missense	54853	exon6			CCATCTACCTCTT	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.704A>G	5.37:g.140048707A>G	ENSP00000351100:p.Tyr235Cys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	137	71	0.518248	NM_017706	Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	115	0.052655677655677656	7	0.014227642276422764	28	0.07734806629834254	24	0.04195804195804196	56	0.07387862796833773	A	13.50	2.256320	0.39896	0.015887	0.093372	ENSG00000120314	ENST00000358337	T	0.41065	1.01	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000004	T	0.03434	0.0099	L	0.55213	1.73	0.80722	D	1	P;D	0.71674	0.869;0.998	P;P	0.57911	0.563;0.829	T	0.01099	-1.1452	10	0.51188	T	0.08	-2.0255	13.6399	0.62243	1.0:0.0:0.0:0.0	rs35983033	74;235	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	C	235	ENSP00000351100:Y235C	ENSP00000351100:Y235C	Y	+	2	0	WDR55	140028891	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.279000	0.78599	1.853000	0.53794	0.383000	0.25322	TAC	A|0.936;G|0.064	0.064	strong		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		G	140048707	A	G	140048707	3	3	23	1	0	0	0	0	1	0	0	0	17304	391	14	2	726	2	WDR55	5	140048707	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21839	140048707	40866553	1410	17866										
PCDHA1	56147	hgsc.bcm.edu	37	chr5	140167463	140167463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaccacgaggagctggagCtgctgcagttccaggtgagc	16	10	0	1	rs3733710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140167463C>T	ENST00000504120.2	+	1	1588	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	PCDHA1_ENST00000378133.3_Silent_p.L530L|PCDHA1_ENST00000394633.3_Silent_p.L530L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGAGCTGCTGCAGTT	0.687													.|||	2612	0.521565	0.4796	0.5865	5008	,	,		16751	0.5149		0.5368	False		,,,				2504	0.5235				p.L530L		Atlas-SNP	.											PCDHA1_ENST00000504120,NS,carcinoma,0,2	PCDHA1	387	2	0			c.C1588T						PASS	.	C	,,	2186,2220	568.1+/-382.3	529,1128,546	70	74	73		1588,1588,1588	1.7	1	5	dbSNP_107	73	4543,4057	573.5+/-389.9	1196,2151,953	no	coding-synonymous,coding-synonymous,coding-synonymous	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	,,	1725,3279,1499	TT,TC,CC		47.1744,49.6142,48.2623	,,	530/951,530/808,530/687	140167463	6729,6277	2203	4300	6503	SO:0001819	synonymous_variant	56147	exon1			CTGGAGCTGCTGC	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1588C>T	5.37:g.140167463C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	56	25	0.446429	NM_031411	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																			C|0.485;T|0.515	0.515	strong		0.687	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167463	C	T	140167463	2	4	23	1	0	0	0	0	0	0	0	1	11519	796	28	2		2	PCDHA1	5	140167463	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	118756	140167463	40747797	1411	17867										
PCDHA3	56145	hgsc.bcm.edu	37	chr5	140181734	140181734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaaagtaagtcatatgaaAtccaggtagaagccacggat	11	6	1	2	rs3733708	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140181734A>G	ENST00000522353.2	+	1	952	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.I318V|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> V (in dbSNP:rs3733708).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATATGAAATCCAGGTAGA	0.388													.|||	2631	0.525359	0.4788	0.5893	5008	,	,		23136	0.5317		0.5378	False		,,,				2504	0.5235				p.I318V		Atlas-SNP	.											.	PCDHA3	396	.	0			c.A952G						PASS	.	A	,,VAL/ILE,,VAL/ILE	2185,2221	585.5+/-386.3	533,1119,551	143	144	144		,,952,,952	3.5	1	5	dbSNP_107	144	4540,4060	594.4+/-393.3	1192,2156,952	yes	intron,intron,missense,intron,missense	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,29,,29	1725,3275,1503	GG,GA,AA		47.2093,49.5915,48.2931	,,,,	,,318/951,,318/825	140181734	6725,6281	2203	4300	6503	SO:0001583	missense	56145	exon1			TATGAAATCCAGG	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.952A>G	5.37:g.140181734A>G	ENSP00000429808:p.Ile318Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	103	66	0.640777	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	1163	0.5325091575091575	252	0.5121951219512195	194	0.5359116022099447	311	0.5437062937062938	406	0.5356200527704486	a	14.17	2.454859	0.43634	0.495915	0.527907	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52526	0.66;0.66	4.79	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.000000	0.42172	U	0.000743	T	0.00012	0.0000	M	0.73430	2.235	0.39646	P	0.02960600000000002	P;P	0.35714	0.517;0.472	B;P	0.50825	0.359;0.651	T	0.53180	-0.8475	9	0.87932	D	0	.	10.5422	0.45039	0.7622:0.0:0.0:0.2378	rs3733708;rs13162484;rs17208250;rs17844256;rs52837026;rs57467015;rs3733708	318;318	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	318	ENSP00000429808:I318V;ENSP00000434086:I318V	ENSP00000429808:I318V	I	+	1	0	PCDHA3	140161918	0.000000	0.05858	0.985000	0.45067	0.953000	0.61014	-0.509000	0.06336	1.925000	0.55765	0.383000	0.25322	ATC	G|0.521;N|0.000	0.521	strong		0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		G	140181734	A	G	140181734	3	3	23	1	0	0	0	0	1	0	0	0	11525	101	4	2	954	2	PCDHA3	5	140181734	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14271	140181734	40733526	1412	17868										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140186979	140186990	+	In_Frame_Del	DEL	GGGCCGCGGAGG	GGGCCGCGGAGG	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttccgggtggcgtccaaGggccgcggaggccttctgga					rs67934344|rs200172095|rs563991668|rs3822355|rs3822354|rs17844273|rs3822351|rs3822350|rs3822353|rs3822352|rs386692888|rs543774145|rs201303975|rs386692887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GGGCCGCGGAGG	GGGCCGCGGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140186979_140186990delGGGCCGCGGAGG	ENST00000530339.1	+	1	207_218	c.207_218delGGGCCGCGGAGG	c.(205-219)aagggccgcggaggc>aac	p.69_73KGRGG>N	PCDHA4_ENST00000356878.4_In_Frame_Del_p.69_73KGRGG>N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_In_Frame_Del_p.69_73KGRGG>N	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G72R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCCAAGGGCCGCGGAGGCCTTCTGGAG	0.656																																					p.69_73del		Pindel	.											.	PCDHA4	419	.	2	Substitution - Missense(2)	lung(2)	c.206_217del						PASS	.																																			SO:0001651	inframe_deletion	56144	exon1			.	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.207_218delGGGCCGCGGAGG	5.37:g.140186979_140186990delGGGCCGCGGAGG	ENSP00000435300:p.Lys69_Gly73delinsAsn	Somatic	73	.	.		WXS	Illumina HiSeq	Phase_I	29	13	0.448	NM_031500	O75285|Q2M253	In_Frame_Del	DEL	ENST00000530339.1	37	CCDS54916.1																																																																																			.	.	none		0.656	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		-	140186990	GGGCCGCGGAGG	-	140186979	7	5	23	1	0	1	0	1	0	0	0	0	11526	991	35	0	209	0	PCDHA4	5	140186979	In_Frame_Del	DEL	GGGCCGCGGAGG	TCGA-GR-7353-01A-11D-2210-10	5245	140186979	40728281	1413	17869										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140187048	140187048	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaattctcggatcgaccgGgaggagctgtgccggcggag	18	9	1	1	rs3822349	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140187048G>C	ENST00000530339.1	+	1	276	c.276G>C	c.(274-276)cgG>cgC	p.R92R	PCDHA4_ENST00000356878.4_Silent_p.R92R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R92R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R92R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGGGAGGAGCTGT	0.617																																					p.R92R		Atlas-SNP	.											PCDHA4_ENST00000530339,NS,carcinoma,0,4	PCDHA4	419	4	2	Substitution - coding silent(2)	stomach(2)	c.G276C						scavenged	.						71	82	78					5																	140187048		2201	4284	6485	SO:0001819	synonymous_variant	56144	exon1			CGACCGGGAGGAG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.276G>C	5.37:g.140187048G>C		Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	77	23	0.298701	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			G|0.926;C|0.074	0.074	strong		0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		C	140187048	G	C	140187048	2	2	23	1	0	0	0	0	0	0	0	1	11526	1219	43	4		4	PCDHA4	5	140187048	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	69	140187048	40728212	1414	17870										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188353	140188353	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccgctggaccacgaggaGctagagctgctgcagtttca					rs561061447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140188353G>A	ENST00000530339.1	+	1	1581	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	PCDHA4_ENST00000356878.4_Silent_p.E527E|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.E527E	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGAGGAGCTAGAGCTGC	0.652													.|||	115	0.0229633	0.003	0.0389	5008	,	,		17480	0.0		0.0755	False		,,,				2504	0.0082				p.E527E		Atlas-SNP	.											.	PCDHA4	419	.	0			c.G1581A						PASS	.						71	76	74					5																	140188353		2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			CGAGGAGCTAGAG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1581G>A	5.37:g.140188353G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	65	12	0.184615	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.	.	none		0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140188353	G	A	140188353	2	1	23	1	0	0	0	0	0	0	0	1	11526	962	34	2		2	PCDHA4	5	140188353	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1305	140188353	40726907	1415	17871	371	3								
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188354	140188354	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccgctggaccacgaggagCtagagctgctgcagtttcag					rs142480630	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140188354C>G	ENST00000530339.1	+	1	1582	c.1582C>G	c.(1582-1584)Cta>Gta	p.L528V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.L528V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L528V	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGAGGAGCTAGAGCTGCT	0.652													.|||	115	0.0229633	0.003	0.0389	5008	,	,		17618	0.0		0.0755	False		,,,				2504	0.0082				p.L528V		Atlas-SNP	.											PCDHA4_ENST00000530339,NS,carcinoma,0,8	PCDHA4	419	8	0			c.C1582G						PASS	.						70	75	74					5																	140188354		2203	4300	6503	SO:0001583	missense	56144	exon1			GAGGAGCTAGAGC	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1582C>G	5.37:g.140188354C>G	ENSP00000435300:p.Leu528Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	64	11	0.171875	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577307	0.28092	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51325	0.71;0.71;0.71	4.18	2.19	0.27852	Cadherin (5);Cadherin-like (1);	0.000000	0.28952	U	0.013601	T	0.34948	0.0915	N	0.25332	0.735	0.20764	N	0.999854	P;B;B	0.43662	0.814;0.101;0.207	B;B;B	0.43508	0.422;0.421;0.214	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.8809	0.35374	0.2588:0.4914:0.2498:0.0	.	528;528;528	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	528	ENSP00000423470:L528V;ENSP00000349344:L528V;ENSP00000435300:L528V	ENSP00000349344:L528V	L	+	1	2	PCDHA4	140168538	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-1.847000	0.01675	0.874000	0.35823	0.580000	0.79431	CTA	C|0.999;G|0.001	0.001	weak		0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		G	140188354	C	G	140188354	3	3	23	1	0	0	0	0	1	0	0	0	11526	796	28	4	1584	4	PCDHA4	5	140188354	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	140188354	40726906	1416	17872	371	3								
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188356	140188356	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgctggaccacgaggagctAgagctgctgcagtttcaggt					rs144593807	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140188356A>G	ENST00000530339.1	+	1	1584	c.1584A>G	c.(1582-1584)ctA>ctG	p.L528L	PCDHA4_ENST00000356878.4_Silent_p.L528L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.L528L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGGAGCTAGAGCTGCTGC	0.652													.|||	115	0.0229633	0.003	0.0389	5008	,	,		17817	0.0		0.0755	False		,,,				2504	0.0082				p.L528L		Atlas-SNP	.											PCDHA4_ENST00000530339,NS,carcinoma,+2,8	PCDHA4	419	8	0			c.A1584G						PASS	.	A	,,,,,	11,4395		0,11,2192	70	75	73		,,,1584,,1584	1.3	1	5	dbSNP_134	73	57,8543		9,39,4252	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	9,50,6444	GG,GA,AA		0.6628,0.2497,0.5228	,,,,,	,,,528/948,,528/799	140188356	68,12938	2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			GGAGCTAGAGCTG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1584A>G	5.37:g.140188356A>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	63	11	0.174603	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			A|0.976;G|0.024	0.024	strong		0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		G	140188356	A	G	140188356	2	3	23	1	0	0	0	0	0	0	0	1	11526	407	15	3		3	PCDHA4	5	140188356	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2	140188356	40726904	1417	17873	371	3								
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140188401	140188401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcgcgatgccggcgtgccAcctctgggcagcaacgtgac	14	15	1	1	rs2879086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140188401A>G	ENST00000530339.1	+	1	1629	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P	PCDHA4_ENST00000356878.4_Silent_p.P543P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P543P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCACCTCTGGGCA	0.667													.|||	2961	0.591254	0.7194	0.6052	5008	,	,		17420	0.5317		0.5388	False		,,,				2504	0.5235				p.P543P		Atlas-SNP	.											.	PCDHA4	419	.	0			c.A1629G						PASS	.	G	,,,,,	3098,1308	689.7+/-405.2	1100,898,205	62	69	66		,,,1629,,1629	-5.7	0	5	dbSNP_101	66	4535,4063	589.2+/-392.5	1193,2149,957	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	2293,3047,1162	GG,GA,AA		47.2552,29.6868,41.3027	,,,,,	,,,543/948,,543/799	140188401	7633,5371	2203	4299	6502	SO:0001819	synonymous_variant	56144	exon1			CGTGCCACCTCTG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1629A>G	5.37:g.140188401A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	26	5	0.192308	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			A|0.414;G|0.586	0.586	strong		0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		G	140188401	A	G	140188401	2	3	23	1	0	0	0	0	0	0	0	1	11526	146	6	2		2	PCDHA4	5	140188401	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	45	140188401	40726859	1418	17874										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140221139	140221139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgggaccttctggaggtaaGtctgcagaatggcattttgt	13	8	2	1	rs3756331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140221139G>A	ENST00000531613.1	+	1	233	c.233G>A	c.(232-234)aGt>aAt	p.S78N	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S78N|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> N (in dbSNP:rs3756331).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S78N(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAGTCTGCAGAAT	0.642													.|||	2981	0.595248	0.7383	0.6009	5008	,	,		18152	0.5337		0.5338	False		,,,				2504	0.5245				p.S78N		Atlas-SNP	.											PCDHA8_ENST00000531613,NS,carcinoma,0,2	PCDHA8	366	2	2	Substitution - Missense(2)	stomach(2)	c.G233A						scavenged	.	A	,,,,,,,ASN/SER,,,ASN/SER	2941,1439		1111,719,360	56	82	73		,,,,,,,233,,,233	2.7	1	5	dbSNP_107	73	4120,4444		1149,1822,1311	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,46,,,46	2260,2541,1671	AA,AG,GG		48.1084,32.8539,45.4496	,,,,,,,,,,	,,,,,,,78/951,,,78/815	140221139	7061,5883	2190	4282	6472	SO:0001583	missense	56140	exon1			AGGTAAGTCTGCA	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.233G>A	5.37:g.140221139G>A	ENSP00000434655:p.Ser78Asn	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	52	26	0.5	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	1164	0.532967032967033	319	0.6483739837398373	187	0.5165745856353591	290	0.506993006993007	368	0.48548812664907653	A	0.403	-0.917356	0.02396	0.671461	0.481084	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.34859	1.34;1.34	3.91	2.73	0.32206	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.39083	N	0.001480	T	0.00012	0.0000	N	0.00125	-2.05	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42882	-0.9425	9	0.02654	T	1	.	4.5167	0.11939	0.6189:0.0:0.2461:0.1351	rs3756331;rs6881677;rs17844315;rs59428168	78;78	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	N	78	ENSP00000434655:S78N;ENSP00000367363:S78N	ENSP00000367363:S78N	S	+	2	0	PCDHA8	140201323	0.478000	0.25917	0.985000	0.45067	0.851000	0.48451	3.070000	0.50033	0.083000	0.17047	-0.389000	0.06534	AGT	G|0.466;A|0.534	0.534	strong		0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140221139	G	A	140221139	3	1	23	1	0	0	0	0	1	0	0	0	11530	1029	36	2	235	2	PCDHA8	5	140221139	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32738	140221139	40694121	1419	17875										
PCDHA8	56140	hgsc.bcm.edu	37	chr5	140222641	140222641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactggtggcgcagcgagcAagctggtgccgcggtctgtg	18	11	1	0	rs6580012	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140222641A>G	ENST00000531613.1	+	1	1735	c.1735A>G	c.(1735-1737)Aag>Gag	p.K579E	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K579E|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	579			K -> E (in dbSNP:rs6580012).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCGAGCAAGCTGGTGCC	0.677													.|||	2882	0.575479	0.7345	0.562	5008	,	,		14758	0.5268		0.4911	False		,,,				2504	0.5072				p.K579E		Atlas-SNP	.											PCDHA8_ENST00000531613,NS,carcinoma,0,4	PCDHA8	366	4	0			c.A1735G						scavenged	.	G	,,,,,,,GLU/LYS,,,GLU/LYS	3133,1257		1169,795,231	52	57	55		,,,,,,,1735,,,1735	0.4	0	5	dbSNP_116	55	4023,4497		1149,1725,1386	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,56,,,56	2318,2520,1617	GG,GA,AA		47.2183,28.6333,44.5701	,,,,,,,,,,	,,,,,,,579/951,,,579/815	140222641	7156,5754	2195	4260	6455	SO:0001583	missense	56140	exon1			GCGAGCAAGCTGG	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1735A>G	5.37:g.140222641A>G	ENSP00000434655:p.Lys579Glu	Somatic	46	2	0.0434783		WXS	Illumina HiSeq	Phase_I	10	5	0.5	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	1207	0.5526556776556777	350	0.7113821138211383	184	0.5082872928176796	302	0.527972027972028	371	0.4894459102902375	G	1.084	-0.665977	0.03428	0.713667	0.472183	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19806	2.12;2.12	3.49	0.381	0.16228	Cadherin-like (1);	0.000000	0.36932	N	0.002335	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	9	0.02654	T	1	.	6.1288	0.20194	0.2432:0.4246:0.3322:0.0	rs6580012;rs17844319	579;579	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	579	ENSP00000434655:K579E;ENSP00000367363:K579E	ENSP00000367363:K579E	K	+	1	0	PCDHA8	140202825	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	1.550000	0.36223	-0.581000	0.05937	-0.665000	0.03846	AAG	A|0.480;G|0.520	0.520	strong		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140222641	A	G	140222641	3	3	23	1	0	0	0	0	1	0	0	0	11530	131	5	2	1737	2	PCDHA8	5	140222641	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1502	140222641	40692619	1420	17876										
PCDHA10	56139	hgsc.bcm.edu	37	chr5	140237158	140237158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctgtcgagctacgtgtcgGtgcacgcggagagcggcaag	17	11	0	1	rs142356019	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140237158G>A	ENST00000307360.5	+	1	1525	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V509M|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCGGTGCACGCGGA	0.697													.|||	119	0.023762	0.0121	0.0346	5008	,	,		14546	0.0		0.0716	False		,,,				2504	0.0072				p.V509M		Atlas-SNP	.											.	PCDHA10	358	.	0			c.G1525A						PASS	.	G	,MET/VAL,,,,,,,,,,,MET/VAL,MET/VAL	120,4272		4,112,2080	66	73	71		,1525,,,,,,,,,,,1525,1525	3.6	1	5	dbSNP_134	71	477,8069		47,383,3843	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,21,,,,,,,,,,,21,21	51,495,5923	AA,AG,GG		5.5816,2.7322,4.6143	,,,,,,,,,,,,,	,509/949,,,,,,,,,,,509/845,509/686	140237158	597,12341	2196	4273	6469	SO:0001583	missense	56139	exon1			GTGTCGGTGCACG	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1525G>A	5.37:g.140237158G>A	ENSP00000304234:p.Val509Met	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	139	62	0.446043	NM_031859	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	87	0.03983516483516483	9	0.018292682926829267	19	0.052486187845303865	0	0.0	59	0.07783641160949868	G	14.28	2.487603	0.44249	0.027322	0.055816	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.67698	-0.28;-0.28	3.63	3.63	0.41609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17323	0.0416	M	0.64404	1.975	0.43489	P	0.004271000000000025	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.993	T	0.65446	-0.6166	8	0.59425	D	0.04	.	9.6727	0.40021	0.0974:0.0:0.9026:0.0	.	509;509;509	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	509	ENSP00000421030:V509M;ENSP00000304234:V509M	ENSP00000304234:V509M	V	+	1	0	PCDHA10	140217342	.	.	0.998000	0.56505	0.648000	0.38561	.	.	2.007000	0.58848	0.561000	0.74099	GTG	G|0.957;A|0.043	0.043	strong		0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140237158	G	A	140237158	3	1	23	1	0	0	0	0	1	0	0	0	11520	1261	44	2	1527	2	PCDHA10	5	140237158	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14517	140237158	40678102	1421	17877										
PCDHA12	56137	hgsc.bcm.edu	37	chr5	140256807	140256807	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagcgagttggtaccgcggTcggtgggtgcgggccacgtg	19	9	0	0	rs199811254		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140256807T>A	ENST00000398631.2	+	1	1750	c.1750T>A	c.(1750-1752)Tcg>Acg	p.S584T	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACCGCGGTCGGTGGGTGC	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		17689	0.0		0.001	False		,,,				2504	0.0				p.S584T	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											PCDHA12,NS,carcinoma,-1,2	PCDHA12	196	2	0			c.T1750A						PASS	.	T	,,,THR/SER,,,,,,,,,,,,THR/SER	1,4405	2.1+/-5.4	0,1,2202	221	209	213		,,,1750,,,,,,,,,,,,1750	-1.4	0	5		213	5,8591	4.3+/-15.6	0,5,4293	no	intron,intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,58,,,,,,,,,,,,58	0,6,6495	AA,AT,TT		0.0582,0.0227,0.0461	,,,,,,,,,,,,,,,	,,,584/942,,,,,,,,,,,,584/793	140256807	6,12996	2203	4298	6501	SO:0001583	missense	56137	exon1			CCGCGGTCGGTGG	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1750T>A	5.37:g.140256807T>A	ENSP00000381628:p.Ser584Thr	Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	224	117	0.522321	NM_018903	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	4.945	0.175589	0.09391	2.27E-4	5.82E-4	ENSG00000251664	ENST00000398631	T	0.39229	1.09	4.71	-1.37	0.09056	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.33760	0.0874	M	0.69185	2.1	0.09310	N	1	B;B	0.33212	0.232;0.402	B;B	0.32762	0.152;0.082	T	0.37549	-0.9701	9	0.59425	D	0.04	.	1.4327	0.02337	0.276:0.0817:0.2678:0.3745	.	584;584	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	584	ENSP00000381628:S584T	ENSP00000381628:S584T	S	+	1	0	PCDHA12	140236991	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.529000	0.06186	-0.138000	0.11434	-0.516000	0.04426	TCG	T|0.999;A|0.001	0.001	strong		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256807	T	A	140256807	3	1	23	1	0	0	0	0	1	0	0	0	11522	1667	58	5	1752	5	PCDHA12	5	140256807	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	19649	140256807	40658453	1422	17878										
PCDHA12	56137	hgsc.bcm.edu	37	chr5	140256920	140256920	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggtcggcgcgcacatcccGttccacgtggggctgtacac	14	15	0	0	rs115718636	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140256920G>C	ENST00000398631.2	+	1	1863	c.1863G>C	c.(1861-1863)ccG>ccC	p.P621P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACATCCCGTTCCACGTGG	0.672													.|||	111	0.0221645	0.0129	0.0303	5008	,	,		17234	0.0		0.0656	False		,,,				2504	0.0072				p.P621P	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											PCDHA12,colon,carcinoma,0,2	PCDHA12	196	2	0			c.G1863C						PASS	.	G	,,,,,,,,,,,,,,,	117,4289	87.8+/-126.4	0,117,2086	228	205	213		,,,1863,,,,,,,,,,,,1863	-0.7	0.9	5	dbSNP_132	213	437,8161	133.5+/-191.0	11,415,3873	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	11,532,5959	CC,CG,GG		5.0826,2.6555,4.2602	,,,,,,,,,,,,,,,	,,,621/942,,,,,,,,,,,,621/793	140256920	554,12450	2203	4299	6502	SO:0001819	synonymous_variant	56137	exon1			CATCCCGTTCCAC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1863G>C	5.37:g.140256920G>C		Somatic	368	1	0.00271739		WXS	Illumina HiSeq	Phase_I	298	150	0.503356	NM_018903	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			G|0.959;C|0.041	0.041	strong		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		C	140256920	G	C	140256920	2	2	23	1	0	0	0	0	0	0	0	1	11522	1132	40	4		4	PCDHA12	5	140256920	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113	140256920	40658340	1423	17879										
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140262492	140262492	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacatagtttattactgacAgccagtgatggaggtaaacc	10	7	0	2	rs11744560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140262492A>T	ENST00000289272.2	+	1	639	c.639A>T	c.(637-639)acA>acT	p.T213T	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T213T|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTACTGACAGCCAGTGATG	0.453													.|||	405	0.0808706	0.0809	0.1239	5008	,	,		21202	0.0179		0.1421	False		,,,				2504	0.0521				p.T213T	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.A639T						PASS	.	A	,,,,,,,,,,,,,,,,	394,4012	197.1+/-221.3	12,370,1821	59	61	60		,,,,639,,,,,,,,,,,,639	0.2	0.8	5	dbSNP_120	60	1320,7280	260.1+/-283.0	91,1138,3071	no	intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031865.1	,,,,,,,,,,,,,,,,	103,1508,4892	TT,TA,AA		15.3488,8.9424,13.1785	,,,,,,,,,,,,,,,,	,,,,213/951,,,,,,,,,,,,213/808	140262492	1714,11292	2203	4300	6503	SO:0001819	synonymous_variant	56136	exon1			ACTGACAGCCAGT	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.639A>T	5.37:g.140262492A>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	90	46	0.511111	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																			A|0.877;T|0.123	0.123	strong		0.453	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140262492	A	T	140262492	2	4	23	1	0	0	0	0	0	0	0	1	11523	175	7	5		5	PCDHA13	5	140262492	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5572	140262492	40652768	1424	17880										
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140262582	140262582	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaacgccccggaattttaCcaatccgtttataaagtgac	7	11	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140262582C>G	ENST00000289272.2	+	1	729	c.729C>G	c.(727-729)taC>taG	p.Y243*	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.Y243*|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	243	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAATTTTACCAATCCGTTT	0.453																																					p.Y243X	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.C729G						PASS	.						72	71	71					5																	140262582		2203	4300	6503	SO:0001587	stop_gained	56136	exon1			ATTTTACCAATCC	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.729C>G	5.37:g.140262582C>G	ENSP00000289272:p.Tyr243*	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	141	49	0.347518	NM_031865	O75277	Nonsense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998714	0.54147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	5.58	-0.292	0.12839	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	1.8341	0.03136	0.1235:0.1792:0.3522:0.345	.	.	.	.	X	243	.	ENSP00000289272:Y243X	Y	+	3	2	PCDHA13	140242766	0.000000	0.05858	0.101000	0.21167	0.535000	0.34838	-1.244000	0.02902	-0.053000	0.13289	0.561000	0.74099	TAC	.	.	none		0.453	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		G	140262582	C	G	140262582	4	3	23	1	0	0	0	0	0	1	0	0	11523	518	18	4	731	4	PCDHA13	5	140262582	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	90	140262582	40652678	1425	17881										
PCDHAC2	56134	hgsc.bcm.edu	37	chr5	140346468	140346468	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctgctgctacctggcccTgcggcctcccagctgcgata	11	17	0	0	rs155364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140346468T>A	ENST00000289269.5	+	1	649	c.117T>A	c.(115-117)ccT>ccA	p.P39P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	39					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tACCTGGCCCTGCGGCCTCCC	0.706													A|||	2918	0.582668	0.7352	0.5994	5008	,	,		15939	0.6111		0.5209	False		,,,				2504	0.3988				p.P39P	Melanoma(190;638 2083 3390 11909 52360)	Atlas-SNP	.											PCDHAC2,NS,carcinoma,0,1	PCDHAC2	142	1	0			c.T117A						PASS	.	A	,,,,,,,,,,,,,,,,,,	3069,1221		1139,791,215	9	8	8		,117,,,,,,,,,,,,,,,,,117	-1.1	1	5	dbSNP_79	8	4360,4002		1212,1936,1033	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018899.5,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031883.2	,,,,,,,,,,,,,,,,,,	2351,2727,1248	AA,AT,TT		47.8594,28.4615,41.282	,,,,,,,,,,,,,,,,,,	,39/1008,,,,,,,,,,,,,,,,,39/885	140346468	7429,5223	2145	4181	6326	SO:0001819	synonymous_variant	56134	exon1			TGGCCCTGCGGCC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.117T>A	5.37:g.140346468T>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	62	30	0.483871	NM_031883	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																			T|0.409;A|0.591	0.591	strong		0.706	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		A	140346468	T	A	140346468	2	1	23	1	0	0	0	0	0	0	0	1	11533	1567	55	5		5	PCDHAC2	5	140346468	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	83886	140346468	40568792	1426	17882										
PCDHAC2	56134	hgsc.bcm.edu	37	chr5	140347398	140347398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcccatggcaggtcactgCaaggtgctggtggacatcgt	15	10	1	0	rs12153295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140347398C>T	ENST00000289269.5	+	1	1579	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTCACTGCAAGGTGCTGG	0.572													C|||	381	0.0760783	0.0514	0.1254	5008	,	,		19977	0.0188		0.1451	False		,,,				2504	0.0624				p.C349C	Melanoma(190;638 2083 3390 11909 52360)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.C1047T						PASS	.	C	,,,,,,,,,,,,,,,,,,	338,4068	177.6+/-206.5	8,322,1873	64	56	58		,1047,,,,,,,,,,,,,,,,,1047	4.7	1	5	dbSNP_120	58	1350,7250	264.3+/-285.5	98,1154,3048	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018899.5,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031883.2	,,,,,,,,,,,,,,,,,,	106,1476,4921	TT,TC,CC		15.6977,7.6714,12.9786	,,,,,,,,,,,,,,,,,,	,349/1008,,,,,,,,,,,,,,,,,349/885	140347398	1688,11318	2203	4300	6503	SO:0001819	synonymous_variant	56134	exon1			TCACTGCAAGGTG	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1047C>T	5.37:g.140347398C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	97	53	0.546392	NM_031883	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																			C|0.881;T|0.119	0.119	strong		0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		T	140347398	C	T	140347398	2	4	23	1	0	0	0	0	0	0	0	1	11533	718	25	2		2	PCDHAC2	5	140347398	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	930	140347398	40567862	1427	17883										
PCDHB2	56133	hgsc.bcm.edu	37	chr5	140475763	140475763	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs142417694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140475763C>G	ENST00000194155.4	+	1	1537	c.1389C>G	c.(1387-1389)cgC>cgG	p.R463R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.637																																					p.R463R		Atlas-SNP	.											PCDHB2,NS,carcinoma,+2,2	PCDHB2	163	2	0			c.C1389G						scavenged	.						78	79	79					5																	140475763		2203	4296	6499	SO:0001819	synonymous_variant	56133	exon1			CGTCCGCGAGAAC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1389C>G	5.37:g.140475763C>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	123	26	0.211382	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			C|0.029;G|0.971	0.971	strong		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		G	140475763	C	G	140475763	2	3	23	1	0	0	0	0	0	0	0	1	11542	755	27	4		4	PCDHB2	5	140475763	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	128365	140475763	40439497	1428	17884										
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503155	140503155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140503155G>T	ENST00000194152.1	+	1	1575	c.1575G>T	c.(1573-1575)gcG>gcT	p.A525A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.682																																					p.A525A		Atlas-SNP	.											PCDHB4,caecum,carcinoma,+1,1	PCDHB4	177	1	0			c.G1575T						scavenged	.						69	78	75					5																	140503155		2203	4298	6501	SO:0001819	synonymous_variant	56131	exon1			GCAGGCGTTCGAG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1575G>T	5.37:g.140503155G>T		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	252	4	0.015873	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.	.	none		0.682	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140503155	G	T	140503155	2	4	23	1	0	0	0	0	0	0	0	1	11544	1132	40	4		4	PCDHB4	5	140503155	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27392	140503155	40412105	1429	17885										
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140531374	140531374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggacaacggccacctgttTgccctcaggtcgctggacta	12	14	1	0	rs17844437	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140531374T>C	ENST00000231136.1	+	1	1536	c.1536T>C	c.(1534-1536)ttT>ttC	p.F512F	PCDHB6_ENST00000543635.1_Silent_p.F376F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTTGCCCTCAGGT	0.682													C|||	250	0.0499201	0.0038	0.121	5008	,	,		16596	0.0169		0.1044	False		,,,				2504	0.0399				p.F512F		Atlas-SNP	.											.	PCDHB6	161	.	0			c.T1536C						PASS	.	C		102,4304	810.0+/-416.0	2,98,2103	81	84	83		1536	0.2	0.4	5	dbSNP_123	83	923,7677	772.0+/-407.7	49,825,3426	no	coding-synonymous	PCDHB6	NM_018939.2		51,923,5529	CC,CT,TT		10.7326,2.315,7.881		512/795	140531374	1025,11981	2203	4300	6503	SO:0001819	synonymous_variant	56130	exon1			CCTGTTTGCCCTC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1536T>C	5.37:g.140531374T>C		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	187	94	0.502674	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			T|0.924;C|0.076	0.076	strong		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		C	140531374	T	C	140531374	2	2	23	1	0	0	0	0	0	0	0	1	11546	1809	63	2		2	PCDHB6	5	140531374	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	28219	140531374	40383886	1430	17886										
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140532165	140532165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccaacttccctcctcaggGcactgagagagaaatggaag	11	12	1	2	rs17844444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140532165G>A	ENST00000231136.1	+	1	2327	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G640D	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	776			G -> D (in dbSNP:rs17844444). {ECO:0000269|PubMed:14702039}.		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTCAGGGCACTGAGAGA	0.463													G|||	522	0.104233	0.0877	0.1744	5008	,	,		16904	0.0407		0.1521	False		,,,				2504	0.093				p.G776D		Atlas-SNP	.											.	PCDHB6	161	.	0			c.G2327A						PASS	.	G	ASP/GLY	454,3950	216.4+/-235.1	27,400,1775	106	116	112		2327	-6.8	0	5	dbSNP_123	112	1415,7185	273.0+/-290.4	122,1171,3007	yes	missense	PCDHB6	NM_018939.2	94	149,1571,4782	AA,AG,GG		16.4535,10.3088,14.3725	benign	776/795	140532165	1869,11135	2202	4300	6502	SO:0001583	missense	56130	exon1			CTCAGGGCACTGA	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2327G>A	5.37:g.140532165G>A	ENSP00000231136:p.Gly776Asp	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	231	114	0.493506	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	247	0.1130952380952381	50	0.1016260162601626	55	0.15193370165745856	26	0.045454545454545456	116	0.15303430079155672	G	4.294	0.053859	0.08291	0.103088	0.164535	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.13778	2.56;2.56	4.51	-6.84	0.01687	.	.	.	.	.	T	0.00012	0.0000	N	0.04090	-0.28	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41270	-0.9518	8	0.08837	T	0.75	.	5.1621	0.15066	0.6481:0.113:0.1258:0.1132	rs17844444	776	Q9Y5E3	PCDB6_HUMAN	D	640;776	ENSP00000438466:G640D;ENSP00000231136:G776D	ENSP00000231136:G776D	G	+	2	0	PCDHB6	140512349	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-2.107000	0.01337	-1.373000	0.02134	0.556000	0.70494	GGC	G|0.864;A|0.136	0.136	strong		0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		A	140532165	G	A	140532165	3	1	23	1	0	0	0	0	1	0	0	0	11546	1203	42	2	2329	2	PCDHB6	5	140532165	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	791	140532165	40383095	1431	17887										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140552558	140552558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcacctttcttaccaacTtggcaaaagacctagggtta	9	10	1	1	rs17096945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140552558T>C	ENST00000231137.3	+	1	316	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTACCAACTTGGCAAAAGA	0.488													T|||	543	0.108427	0.1029	0.1744	5008	,	,		16638	0.0407		0.1531	False		,,,				2504	0.093				p.L48L		Atlas-SNP	.											PCDHB7,NS,carcinoma,-2,1	PCDHB7	231	1	0			c.T142C						scavenged	.	T		496,3910	231.0+/-245.0	28,440,1735	96	96	96		142	-3.6	0.5	5	dbSNP_123	96	1419,7181	273.5+/-290.7	122,1175,3003	no	coding-synonymous	PCDHB7	NM_018940.2		150,1615,4738	CC,CT,TT		16.5,11.2574,14.724		48/794	140552558	1915,11091	2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			ACCAACTTGGCAA	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.142T>C	5.37:g.140552558T>C		Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	180	90	0.5	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			T|0.860;C|0.140	0.140	strong		0.488	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		C	140552558	T	C	140552558	2	2	23	1	0	0	0	0	0	0	0	1	11547	1606	56	3		3	PCDHB7	5	140552558	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20393	140552558	40362702	1432	17888										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140552774	140552774	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttcagattttccgtgctGaactatgggtcagagacatc	9	9	2	3	rs17286891	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140552774G>A	ENST00000231137.3	+	1	532	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> K (in dbSNP:rs17286891).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCCGTGCTGAACTATGGGT	0.448													G|||	248	0.0495208	0.003	0.121	5008	,	,		18654	0.0159		0.1044	False		,,,				2504	0.0399				p.E120K		Atlas-SNP	.											.	PCDHB7	231	.	0			c.G358A						PASS	.	G	LYS/GLU	97,4309	77.8+/-116.1	1,95,2107	65	69	68		358	3.7	1	5	dbSNP_123	68	938,7662	204.2+/-247.0	52,834,3414	yes	missense	PCDHB7	NM_018940.2	56	53,929,5521	AA,AG,GG		10.907,2.2015,7.9579	benign	120/794	140552774	1035,11971	2203	4300	6503	SO:0001583	missense	56129	exon1			CGTGCTGAACTAT	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.358G>A	5.37:g.140552774G>A	ENSP00000231137:p.Glu120Lys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	132	0.06043956043956044	4	0.008130081300813009	38	0.10497237569060773	10	0.017482517482517484	80	0.10554089709762533	G	14.12	2.442001	0.43326	0.022015	0.10907	ENSG00000113212	ENST00000231137	T	0.52983	0.64	4.61	3.74	0.42951	.	.	.	.	.	T	0.01489	0.0048	M	0.87456	2.885	0.51012	P	9.80000000000425E-5	B	0.18461	0.028	B	0.20955	0.032	T	0.37731	-0.9693	8	0.72032	D	0.01	.	9.1941	0.37217	0.1712:0.0:0.8288:0.0	rs17286891;rs17844447;rs56500957;rs59948906;rs17286891	120	Q9Y5E2	PCDB7_HUMAN	K	120	ENSP00000231137:E120K	ENSP00000231137:E120K	E	+	1	0	PCDHB7	140532958	0.044000	0.20184	0.983000	0.44433	0.828000	0.46876	1.888000	0.39708	1.045000	0.40225	0.655000	0.94253	GAA	G|0.934;A|0.066	0.066	strong		0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140552774	G	A	140552774	3	1	23	1	0	0	0	0	1	0	0	0	11547	1291	45	2	360	2	PCDHB7	5	140552774	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	216	140552774	40362486	1433	17889										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553664	140553664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcgagagaggaacactgaGtacaacatcaccatcaccgt	9	11	2	2	rs3733695|rs386692905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140553664G>A	ENST00000231137.3	+	1	1422	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAACACTGAGTACAACATCA	0.522													G|||	758	0.151358	0.2572	0.1902	5008	,	,		20573	0.0407		0.1531	False		,,,				2504	0.093				p.E416E		Atlas-SNP	.											.	PCDHB7	231	.	0			c.G1248A						PASS	.	G		1036,3370	383.7+/-325.0	115,806,1282	138	125	129		1248	0	1	5	dbSNP_107	129	1429,7171	275.0+/-291.5	126,1177,2997	no	coding-synonymous	PCDHB7	NM_018940.2		241,1983,4279	AA,AG,GG		16.6163,23.5134,18.9528		416/794	140553664	2465,10541	2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			CACTGAGTACAAC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1248G>A	5.37:g.140553664G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	209	103	0.492823	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			G|0.819;A|0.181	0.181	strong		0.522	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553664	G	A	140553664	2	1	23	1	0	0	0	0	0	0	0	1	11547	1020	36	2		2	PCDHB7	5	140553664	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	890	140553664	40361596	1434	17890										
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140558528	140558528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacaggagaaattcgactaAagaaacaacttgatttcgaa	8	6	0	4	rs3733694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140558528A>G	ENST00000239444.2	+	1	1158	c.913A>G	c.(913-915)Aag>Gag	p.K305E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		K -> E (in dbSNP:rs3733694).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTCGACTAAAGAAACAACT	0.393													A|||	644	0.128594	0.177	0.1787	5008	,	,		31989	0.0407		0.1531	False		,,,				2504	0.093				p.K305E		Atlas-SNP	.											.	PCDHB8	199	.	0			c.A913G						PASS	.	A	GLU/LYS	773,3633	308.8+/-290.8	70,633,1500	119	176	156		913	4.2	0	5	dbSNP_107	156	1246,7354	238.5+/-269.9	123,1000,3177	yes	missense	PCDHB8	NM_019120.3	56	193,1633,4677	GG,GA,AA		14.4884,17.5443,15.5236	benign	305/802	140558528	2019,10987	2203	4300	6503	SO:0001583	missense	56128	exon1			CGACTAAAGAAAC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.913A>G	5.37:g.140558528A>G	ENSP00000239444:p.Lys305Glu	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	214	82	0.383178	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	292	0.1336996336996337	92	0.18699186991869918	57	0.1574585635359116	26	0.045454545454545456	117	0.15435356200527706	A	2.278	-0.365459	0.05069	0.175443	0.144884	ENSG00000120322	ENST00000239444	T	0.01725	4.67	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.72479	2.2	0.80722	P	0.0	B	0.33904	0.431	B	0.39971	0.315	T	0.42015	-0.9476	8	0.15952	T	0.53	.	9.2083	0.37302	0.8378:0.0:0.0:0.1622	rs3733694;rs17096956;rs17844492;rs3733694	305	Q9UN66	PCDB8_HUMAN	E	305	ENSP00000239444:K305E	ENSP00000239444:K305E	K	+	1	0	PCDHB8	140538712	0.000000	0.05858	0.017000	0.16124	0.014000	0.08584	-0.201000	0.09464	1.558000	0.49541	0.477000	0.44152	AAG	G|0.146;N|0.001	0.146	strong		0.393	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140558528	A	G	140558528	3	3	23	1	0	0	0	0	1	0	0	0	11548	15	1	2	915	2	PCDHB8	5	140558528	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4864	140558528	40356732	1435	17891										
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559679	140559679	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccaggccgactctctcacCgtctacctggtggtggcgtt	13	14	3	0	rs17844507	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140559679C>G	ENST00000239444.2	+	1	2309	c.2064C>G	c.(2062-2064)acC>acG	p.T688T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	688					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCTCTCACCGTCTACCTGG	0.677													C|||	542	0.108227	0.1021	0.1744	5008	,	,		16544	0.0407		0.1531	False		,,,				2504	0.093				p.T688T		Atlas-SNP	.											.	PCDHB8	199	.	0			c.C2064G						PASS	.	C		495,3909		29,437,1736	82	80	81		2064	-1.2	0	5	dbSNP_123	81	1406,7190		121,1164,3013	no	coding-synonymous	PCDHB8	NM_019120.3		150,1601,4749	GG,GC,CC		16.3564,11.2398,14.6231		688/802	140559679	1901,11099	2202	4298	6500	SO:0001819	synonymous_variant	56128	exon1			TCTCACCGTCTAC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2064C>G	5.37:g.140559679C>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	55	34	0.618182	NM_019120	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																			C|0.863;G|0.137	0.137	strong		0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140559679	C	G	140559679	2	3	23	1	0	0	0	0	0	0	0	1	11548	639	23	4		4	PCDHB8	5	140559679	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1151	140559679	40355581	1436	17892										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140564214	140564214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtctacctggtggtggcgTtggcctcggtgtcgtcgctc	15	12	1	0	rs61739446	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140564214T>C	ENST00000361016.2	+	1	3235	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	694					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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.692													T|||	547	0.109225	0.1029	0.1744	5008	,	,		16254	0.0407		0.1571	False		,,,				2504	0.093				p.L694L		Atlas-SNP	.											.	PCDHB16	159	.	0			c.T2080C						PASS	.	T		498,3908		29,440,1734	68	72	71		2080	-6.2	0	5	dbSNP_129	71	1450,7148		130,1190,2979	no	coding-synonymous	PCDHB16	NM_020957.1		159,1630,4713	CC,CT,TT		16.8644,11.3028,14.98		694/777	140564214	1948,11056	2203	4299	6502	SO:0001819	synonymous_variant	57717	exon1			GTGGCGTTGGCCT	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2080T>C	5.37:g.140564214T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	70	39	0.557143	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			T|0.863;C|0.137	0.137	strong		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		C	140564214	T	C	140564214	2	2	23	1	0	0	0	0	0	0	0	1	11541	1722	60	2		2	PCDHB16	5	140564214	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4535	140564214	40351046	1437	17893										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140573508	140573508	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs112214830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140573508C>G	ENST00000239446.4	+	1	1567	c.1383C>G	c.(1381-1383)cgC>cgG	p.R461R		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	461	Cadherin 5. {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)			TGTTCGTCCGCGAGAACAACA	0.632																																					p.R461R		Atlas-SNP	.											PCDHB10,NS,carcinoma,+2,2	PCDHB10	177	2	0			c.C1383G						scavenged	.						42	49	47					5																	140573508		2203	4290	6493	SO:0001819	synonymous_variant	56126	exon1			CGTCCGCGAGAAC	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.1383C>G	5.37:g.140573508C>G		Somatic	109	2	0.0183486		WXS	Illumina HiSeq	Phase_I	86	24	0.27907	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			C|0.029;G|0.971	0.971	strong		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		G	140573508	C	G	140573508	2	3	23	1	0	0	0	0	0	0	0	1	11535	755	27	4		4	PCDHB10	5	140573508	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9294	140573508	40341752	1438	17894										
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140573719	140573719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctttcgagttccgcgtgGgcgccacagaccgcggctcc	14	15	0	1	rs148484995	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140573719G>A	ENST00000239446.4	+	1	1778	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	532	Cadherin 5. {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)			GTTCCGCGTGGGCGCCACAGA	0.692																																					p.G532S		Atlas-SNP	.											PCDHB10,NS,lymphoid_neoplasm,-2,1	PCDHB10	177	1	0			c.G1594A						scavenged	.						64	82	76					5																	140573719		2203	4300	6503	SO:0001583	missense	56126	exon1			CGCGTGGGCGCCA	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.1594G>A	5.37:g.140573719G>A	ENSP00000239446:p.Gly532Ser	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	141	3	0.0212766	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	121	0.0554029304029304	49	0.09959349593495935	14	0.03867403314917127	4	0.006993006993006993	54	0.0712401055408971	g	13.25	2.180349	0.38511	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.53	-1.46	0.08800	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	N	0.04787	-0.16	0.09310	N	1	P	0.40578	0.722	P	0.50162	0.633	T	0.53781	-0.8390	9	0.34782	T	0.22	.	6.5285	0.22314	0.1851:0.6244:0.1905:0.0	.	532	Q9UN67	PCDBA_HUMAN	S	532	ENSP00000239446:G532S	ENSP00000239446:G532S	G	+	1	0	PCDHB10	140553903	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-1.808000	0.01732	-0.175000	0.10725	0.549000	0.68633	GGC	G|0.961;A|0.039	0.039	strong		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573719	G	A	140573719	3	1	23	1	0	0	0	0	1	0	0	0	11535	1232	43	2	1596	2	PCDHB10	5	140573719	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	211	140573719	40341541	1439	17895										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140579358	140579358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaggaactatggagaaccAagggacacgcactcagcaga	12	9	1	2	rs3756323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140579358A>G	ENST00000354757.3	+	1	11	c.11A>G	c.(10-12)cAa>cGa	p.Q4R	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	4			Q -> R (in dbSNP:rs3756323).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGAACCAAGGGACACGC	0.502													G|||	764	0.152556	0.2579	0.1902	5008	,	,		21054	0.0407		0.1581	False		,,,				2504	0.093				p.Q4R		Atlas-SNP	.											.	PCDHB11	162	.	0			c.A11G						PASS	.	G	ARG/GLN	1043,3363	725.1+/-409.6	115,813,1275	79	74	76		11	0.2	0	5	dbSNP_107	76	1473,7127	749.9+/-407.4	137,1199,2964	yes	missense	PCDHB11	NM_018931.2	43	252,2012,4239	GG,GA,AA		17.1279,23.6723,19.3449	benign	4/798	140579358	2516,10490	2203	4300	6503	SO:0001583	missense	56125	exon1			AGAACCAAGGGAC	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.11A>G	5.37:g.140579358A>G	ENSP00000346802:p.Gln4Arg	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	333	0.15247252747252749	122	0.24796747967479674	63	0.17403314917127072	26	0.045454545454545456	122	0.16094986807387862	G	2.426	-0.331889	0.05314	0.236723	0.171279	ENSG00000197479	ENST00000354757	T	0.46063	0.88	2.69	0.238	0.15480	.	.	.	.	.	T	0.00012	0.0000	N	0.01482	-0.84	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39375	-0.9617	8	0.09843	T	0.71	.	7.8071	0.29209	0.1035:0.3818:0.5147:0.0	rs3756323;rs52814876;rs58371514;rs3756323	4	Q9Y5F2	PCDBB_HUMAN	R	4	ENSP00000346802:Q4R	ENSP00000346802:Q4R	Q	+	2	0	PCDHB11	140559542	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.201000	0.09464	-0.041000	0.13558	-0.368000	0.07277	CAA	A|0.818;G|0.182	0.182	strong		0.502	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		G	140579358	A	G	140579358	3	3	23	1	0	0	0	0	1	0	0	0	11536	130	5	2	13	2	PCDHB11	5	140579358	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5639	140579358	40335902	1440	17896										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140580772	140580772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacatcggcagtgtcagcgcTacagacagagactcaggcac	11	13	2	2	rs57636116	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140580772T>C	ENST00000354757.3	+	1	1425	c.1425T>C	c.(1423-1425)gcT>gcC	p.A475A	PCDHB11_ENST00000536699.1_Silent_p.A110A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTCAGCGCTACAGACAGAG	0.622													t|||	548	0.109425	0.1029	0.1744	5008	,	,		17056	0.0407		0.1581	False		,,,				2504	0.093				p.A475A		Atlas-SNP	.											.	PCDHB11	162	.	0			c.T1425C						PASS	.	T		490,3916	777.8+/-414.3	28,434,1741	130	124	126		1425	0.4	0	5	dbSNP_129	126	1426,7170	745.9+/-407.3	129,1168,3001	no	coding-synonymous	PCDHB11	NM_018931.2		157,1602,4742	CC,CT,TT		16.5891,11.1212,14.7362		475/798	140580772	1916,11086	2203	4298	6501	SO:0001819	synonymous_variant	56125	exon1			CAGCGCTACAGAC	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1425T>C	5.37:g.140580772T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	149	77	0.516779	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																			T|0.869;C|0.131	0.131	strong		0.622	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		C	140580772	T	C	140580772	2	2	23	1	0	0	0	0	0	0	0	1	11536	1509	53	3		3	PCDHB11	5	140580772	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1414	140580772	40334488	1441	17897										
PCDHB11	56125	hgsc.bcm.edu	37	chr5	140580941	140580941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctttcgacttccgcgtgGgcgccacagaccgcggctcc	13	16	0	1	rs138686663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140580941G>A	ENST00000354757.3	+	1	1594	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G167S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G532S(2)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCGCGTGGGCGCCACAGA	0.677																																					p.G532S		Atlas-SNP	.											PCDHB11,NS,carcinoma,0,3	PCDHB11	162	3	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G1594A						PASS	.						51	67	62					5																	140580941		2202	4300	6502	SO:0001583	missense	56125	exon1			CGCGTGGGCGCCA	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1594G>A	5.37:g.140580941G>A	ENSP00000346802:p.Gly532Ser	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	204	46	0.22549	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	11.84	1.758724	0.31137	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01647	4.71;4.71	2.51	-5.02	0.02982	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	N	0.11845	0.185	0.09310	N	0.999999	B	0.26081	0.141	B	0.40375	0.327	T	0.50056	-0.8872	9	0.34782	T	0.22	.	8.9541	0.35807	0.3349:0.5322:0.1329:0.0	.	532	Q9Y5F2	PCDBB_HUMAN	S	167;532	ENSP00000440344:G167S;ENSP00000346802:G532S	ENSP00000346802:G532S	G	+	1	0	PCDHB11	140561125	0.000000	0.05858	0.010000	0.14722	0.109000	0.19521	-4.241000	0.00268	-1.731000	0.01360	0.298000	0.19748	GGC	G|0.970;A|0.030	0.030	strong		0.677	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580941	G	A	140580941	3	1	23	1	0	0	0	0	1	0	0	0	11536	1232	43	2	1596	2	PCDHB11	5	140580941	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	169	140580941	40334319	1442	17898										
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595756	140595756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccaggccgacttgctcacCgtctacctggtggtggcgtt	13	14	2	0	rs17844617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140595756C>T	ENST00000341948.4	+	1	2248	c.2061C>T	c.(2059-2061)acC>acT	p.T687T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	687					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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGCTCACCGTCTACCTGG	0.687													c|||	585	0.116813	0.1233	0.1816	5008	,	,		16534	0.0397		0.159	False		,,,				2504	0.0982				p.T687T		Atlas-SNP	.											.	PCDHB13	142	.	0			c.C2061T						PASS	.	T		510,3862		33,444,1709	80	86	84		2061	-7	0	5	dbSNP_123	84	1400,7134		121,1158,2988	no	coding-synonymous	PCDHB13	NM_018933.2		154,1602,4697	TT,TC,CC		16.405,11.6651,14.7993		687/799	140595756	1910,10996	2186	4267	6453	SO:0001819	synonymous_variant	56123	exon1			GCTCACCGTCTAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2061C>T	5.37:g.140595756C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	65	33	0.507692	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			C|0.855;T|0.145	0.145	strong		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595756	C	T	140595756	2	4	23	1	0	0	0	0	0	0	0	1	11538	639	23	1		1	PCDHB13	5	140595756	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14815	140595756	40319504	1443	17899										
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595802	140595802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtgtcttcgctcttcctcTtttcggtgctcctgttcgtg	10	13	3	0	rs17844618	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140595802T>C	ENST00000341948.4	+	1	2294	c.2107T>C	c.(2107-2109)Ttt>Ctt	p.F703L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	703					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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTTCCTCTTTTCGGTGCT	0.687													T|||	584	0.116613	0.1233	0.1801	5008	,	,		16903	0.0397		0.159	False		,,,				2504	0.0982				p.F703L		Atlas-SNP	.											.	PCDHB13	142	.	0			c.T2107C						PASS	.	T	LEU/PHE	492,3908		36,420,1744	92	98	96		2107	-7	0	5	dbSNP_123	96	1344,7238		127,1090,3074	no	missense	PCDHB13	NM_018933.2	22	163,1510,4818	CC,CT,TT		15.6607,11.1818,14.1427	benign	703/799	140595802	1836,11146	2200	4291	6491	SO:0001583	missense	56123	exon1			TTCCTCTTTTCGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2107T>C	5.37:g.140595802T>C	ENSP00000345491:p.Phe703Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	77	37	0.480519	NM_018933	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	269	0.12316849816849818	65	0.13211382113821138	57	0.1574585635359116	25	0.043706293706293704	122	0.16094986807387862	-	2.617	-0.289406	0.05605	0.111818	0.156607	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.07444	3.19	3.5	-6.99	0.01605	.	.	.	.	.	T	0.00012	0.0000	N	0.04335	-0.225	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.38067	-0.9678	8	0.02654	T	1	.	2.6993	0.05143	0.1722:0.4218:0.194:0.212	rs17844618	703	Q9Y5F0	PCDBD_HUMAN	L	703;703;649	ENSP00000345491:F703L	ENSP00000345491:F703L	F	+	1	0	PCDHB13	140575986	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.846000	0.04336	-1.293000	0.02362	0.248000	0.18094	TTT	T|0.856;C|0.144	0.144	strong		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		C	140595802	T	C	140595802	3	2	23	1	0	0	0	0	1	0	0	0	11538	1609	56	3	2109	3	PCDHB13	5	140595802	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	46	140595802	40319458	1444	17900										
PCDHB15	56121	hgsc.bcm.edu	37	chr5	140626529	140626529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs17844564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140626529C>T	ENST00000231173.3	+	1	1383	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.637													C|||	584	0.116613	0.1263	0.1787	5008	,	,		16065	0.0397		0.1551	False		,,,				2504	0.0992				p.R461R		Atlas-SNP	.											.	PCDHB15	138	.	0			c.C1383T						PASS	.	C		557,3849		70,417,1716	78	83	82		1383	-1.1	0.7	5	dbSNP_123	82	1414,7174		126,1162,3006	no	coding-synonymous	PCDHB15	NM_018935.2		196,1579,4722	TT,TC,CC		16.4648,12.6419,15.1685		461/788	140626529	1971,11023	2203	4294	6497	SO:0001819	synonymous_variant	56121	exon1			CGTCCGCGAGAAC	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1383C>T	5.37:g.140626529C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	110	43	0.390909	NM_018935	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			C|0.029;G|0.971	.	alt		0.637	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140626529	C	T	140626529	2	4	23	1	0	0	0	0	0	0	0	1	11540	755	27	1		1	PCDHB15	5	140626529	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30727	140626529	40288731	1445	17901										
PCDHB15	56121	hgsc.bcm.edu	37	chr5	140626724	140626724	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactacgaggccctgcaggcTttcgagttccgcgtgggcgc	15	13	0	0	rs3776091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140626724T>G	ENST00000231173.3	+	1	1578	c.1578T>G	c.(1576-1578)gcT>gcG	p.A526A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCTTTCGAGTTCC	0.682													t|||	593	0.118411	0.1324	0.1787	5008	,	,		16249	0.0397		0.1561	False		,,,				2504	0.0992				p.A526A		Atlas-SNP	.											.	PCDHB15	138	.	0			c.T1578G						PASS	.	T		591,3815	766.0+/-413.4	51,489,1663	66	77	73		1578	-4	0.1	5	dbSNP_107	73	1397,7203	749.7+/-407.4	126,1145,3029	no	coding-synonymous	PCDHB15	NM_018935.2		177,1634,4692	GG,GT,TT		16.2442,13.4135,15.2853		526/788	140626724	1988,11018	2203	4300	6503	SO:0001819	synonymous_variant	56121	exon1			GCAGGCTTTCGAG	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1578T>G	5.37:g.140626724T>G		Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	186	82	0.44086	NM_018935	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			T|0.852;G|0.148	0.148	strong		0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		G	140626724	T	G	140626724	2	3	23	1	0	0	0	0	0	0	0	1	11540	1596	56	5		5	PCDHB15	5	140626724	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	195	140626724	40288536	1446	17902										
PCDHGB4	8641	hgsc.bcm.edu	37	chr5	140768442	140768442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatgattgcgcaatgcacaGtggaggtagaagtcatagat	13	5	1	3	rs201053346		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140768442G>T	ENST00000519479.1	+	1	991	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATGCACAGTGGAGGTAGA	0.413																																					p.V331L		Atlas-SNP	.											.	PCDHGB4	125	.	0			c.G991T						PASS	.	G	LEU/VAL,,,,,,,,,,,LEU/VAL	0,3830		0,0,1915	86	80	82		991,,,,,,,,,,,991	4.2	0.1	5		82	3,8283		0,3,4140	yes	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	32,,,,,,,,,,,32	0,3,6055	TT,TG,GG		0.0362,0.0,0.0248	,,,,,,,,,,,	331/924,,,,,,,,,,,331/804	140768442	3,12113	1915	4143	6058	SO:0001583	missense	8641	exon1			TGCACAGTGGAGG	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.991G>T	5.37:g.140768442G>T	ENSP00000428288:p.Val331Leu	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_032098	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.306759	0.40795	0.0	3.62E-4	ENSG00000253953	ENST00000519479	T	0.01787	4.64	5.09	4.2	0.49525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.74389	2.26	0.25118	N	0.990664	P;D	0.55385	0.918;0.971	P;P	0.53102	0.596;0.718	T	0.09552	-1.0669	9	0.49607	T	0.09	.	14.1498	0.65375	0.0773:0.0:0.9227:0.0	.	331;331	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	L	331	ENSP00000428288:V331L	ENSP00000428288:V331L	V	+	1	0	PCDHGB4	140748626	0.998000	0.40836	0.109000	0.21407	0.063000	0.16089	2.244000	0.43124	2.525000	0.85131	0.655000	0.94253	GTG	.	.	weak		0.413	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140768442	G	T	140768442	3	4	23	1	0	0	0	0	1	0	0	0	11565	1029	36	4	993	4	PCDHGB4	5	140768442	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	141718	140768442	40146818	1447	17903										
PCDHGA8	9708	hgsc.bcm.edu	37	chr5	140773812	140773812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttttccttgactgcacacGaccccgacagccaggagaat	8	14	1	2	rs144796076	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140773812G>A	ENST00000398604.2	+	1	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCACACGACCCCGACAG	0.547													.|||	10	0.00199681	0.0	0.0029	5008	,	,		17412	0.0		0.007	False		,,,				2504	0.001				p.D478N		Atlas-SNP	.											.	PCDHGA8	146	.	0			c.G1432A						PASS	.	G	,ASN/ASP,,,,,,,,,,,ASN/ASP	4,4204		0,4,2100	51	55	53		,1432,,,,,,,,,,,1432	5.1	0.4	5	dbSNP_134	53	26,8436		0,26,4205	yes	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_014004.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032088.1	,23,,,,,,,,,,,23	0,30,6305	AA,AG,GG		0.3073,0.0951,0.2368	,,,,,,,,,,,,	,478/821,,,,,,,,,,,478/933	140773812	30,12640	2104	4231	6335	SO:0001583	missense	9708	exon1			GCACACGACCCCG	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1432G>A	5.37:g.140773812G>A	ENSP00000381605:p.Asp478Asn	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	182	78	0.428571	NM_014004	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	.	16.62	3.173397	0.57584	9.51E-4	0.003073	ENSG00000253767	ENST00000398604	T	0.74526	-0.85	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.32273	U	0.006322	D	0.91958	0.7453	H	0.99970	5.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95745	0.8787	10	0.87932	D	0	.	18.0785	0.89435	0.0:0.0:1.0:0.0	.	478;478	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	N	478	ENSP00000381605:D478N	ENSP00000381605:D478N	D	+	1	0	PCDHGA8	140753996	1.000000	0.71417	0.373000	0.26003	0.201000	0.24016	9.595000	0.98260	2.366000	0.80165	0.655000	0.94253	GAC	G|0.996;A|0.004	0.004	strong		0.547	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140773812	G	A	140773812	3	1	23	1	0	0	0	0	1	0	0	0	11560	1058	37	1	1434	1	PCDHGA8	5	140773812	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5370	140773812	40141448	1448	17904										
PCDHGA8	9708	hgsc.bcm.edu	37	chr5	140774076	140774076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcccgagatcctgtaccccGccctccccacagacggttcc	8	21	0	2	rs367855808		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:140774076G>T	ENST00000398604.2	+	1	1696	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667																																					p.A566S		Atlas-SNP	.											.	PCDHGA8	146	.	0			c.G1696T						PASS	.	A	,SER/ALA,,,,,,,,,,,SER/ALA	0,4406		0,0,2203	91	106	101		,1696,,,,,,,,,,,1696	-10.1	0	5		101	1,8595		0,1,4297	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_014004.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032088.1	,99,,,,,,,,,,,99	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,	,566/821,,,,,,,,,,,566/933	140774076	1,13001	2203	4298	6501	SO:0001583	missense	9708	exon1			TACCCCGCCCTCC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1696G>T	5.37:g.140774076G>T	ENSP00000381605:p.Ala566Ser	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	182	83	0.456044	NM_014004	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.677464	0.00751	0.0	1.16E-4	ENSG00000253767	ENST00000398604	T	0.46063	0.88	5.06	-10.1	0.00402	Cadherin-like (1);	1.441770	0.05974	N	0.642917	T	0.13329	0.0323	N	0.02379	-0.575	0.09310	N	1	B;B	0.21071	0.051;0.004	B;B	0.19391	0.025;0.006	T	0.11767	-1.0574	10	0.07813	T	0.8	.	9.2393	0.37486	0.6616:0.0594:0.0798:0.1992	.	566;566	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	S	566	ENSP00000381605:A566S	ENSP00000381605:A566S	A	+	1	0	PCDHGA8	140754260	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-8.772000	0.00017	-3.686000	0.00121	-1.652000	0.00757	GCC	.	.	weak		0.667	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		T	140774076	G	T	140774076	3	4	23	1	0	0	0	0	1	0	0	0	11560	1087	38	4	1698	4	PCDHGA8	5	140774076	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	264	140774076	40141184	1449	17905										
GNPDA1	10007	hgsc.bcm.edu	37	chr5	141391532	141391532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgggttaaactggatgatGcggttcctgatgtatttagc	12	7	0	2	rs164080	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:141391532G>A	ENST00000508177.1	-	1	827	c.69C>T	c.(67-69)cgC>cgT	p.R23R	GNPDA1_ENST00000513454.1_Silent_p.R23R|GNPDA1_ENST00000500692.2_Silent_p.R23R|GNPDA1_ENST00000542860.1_Silent_p.R23R|GNPDA1_ENST00000311337.6_Silent_p.R23R|GNPDA1_ENST00000458112.2_Silent_p.R23R|GNPDA1_ENST00000503794.1_Silent_p.R23R			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	23					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.R23R(1)		central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGATGATGCGGTTCCTGA	0.567											OREG0016880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2728	0.544728	0.671	0.4352	5008	,	,		19378	0.625		0.4612	False		,,,				2504	0.455				p.R23R		Atlas-SNP	.											GNPDA1,NS,carcinoma,0,1	GNPDA1	16	1	1	Substitution - coding silent(1)	stomach(1)	c.C69T						PASS	.	G		2771,1635	659.9+/-400.6	883,1005,315	113	106	108		69	-0.2	1	5	dbSNP_79	108	3927,4673	547.6+/-385.2	889,2149,1262	no	coding-synonymous	GNPDA1	NM_005471.4		1772,3154,1577	AA,AG,GG		45.6628,37.1085,48.5007		23/290	141391532	6698,6308	2203	4300	6503	SO:0001819	synonymous_variant	10007	exon2			GATGATGCGGTTC	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.69C>T	5.37:g.141391532G>A		Somatic	241	0	0	1663	WXS	Illumina HiSeq	Phase_I	245	107	0.436735	NM_005471	B7Z3X4|D3DQE7	Silent	SNP	ENST00000508177.1	37	CCDS4272.1																																																																																			G|0.454;A|0.546	0.546	strong		0.567	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		A	141391532	G	A	141391532	2	1	23	1	0	0	0	0	0	0	0	1	6542	1306	46	2		2	GNPDA1	5	141391532	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	617456	141391532	39523728	1450	17906										
SPRY4	81848	hgsc.bcm.edu	37	chr5	141693948	141693948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaggcagggcagcaccacGgagagagcacccatgaagga	15	11	0	2	rs145360326	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:141693948G>A	ENST00000434127.2	-	2	969	c.726C>T	c.(724-726)tcC>tcT	p.S242S	SPRY4_ENST00000344120.4_Silent_p.S265S|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682									Testicular Cancer, Familial Clustering of																												p.S265S		Atlas-SNP	.											SPRY4,rectum,carcinoma,0,2	SPRY4	31	2	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C795T						PASS	.	G	,	2,4404	4.2+/-10.8	0,2,2201	60	60	60		726,795	0.7	1	5	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SPRY4	NM_001127496.1,NM_030964.3	,	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	,	242/300,265/323	141693948	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	81848	exon3	Familial Cancer Database		CACCACGGAGAGA	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.726C>T	5.37:g.141693948G>A		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	229	108	0.471616	NM_030964	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	CCDS47296.1																																																																																			G|0.999;A|0.001	0.001	strong		0.682	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141693948	G	A	141693948	2	1	23	1	0	0	0	0	0	0	0	1	15107	1103	39	1		1	SPRY4	5	141693948	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	302416	141693948	39221312	1451	17907										
YIPF5	81555	hgsc.bcm.edu	37	chr5	143539969	143539969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagataaattttcaaaagaCggaaatcagggcaaagactc	8	8	2	3	rs147304369	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:143539969C>T	ENST00000274496.5	-	6	900	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	YIPF5_ENST00000448443.2_Missense_Mutation_p.V256I|YIPF5_ENST00000513112.1_Missense_Mutation_p.V202I	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	256					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTTCAAAAGACGGAAATCAGG	0.413													C|||	11	0.00219649	0.0008	0.0043	5008	,	,		18492	0.0		0.007	False		,,,				2504	0.0				p.V256I		Atlas-SNP	.											.	YIPF5	17	.	0			c.G766A						PASS	.	C	ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	98	104	102		766,766	2.4	0.6	5	dbSNP_134	102	97,8503	53.6+/-114.3	0,97,4203	yes	missense,missense	YIPF5	NM_001024947.2,NM_030799.7	29,29	0,101,6402	TT,TC,CC		1.1279,0.0908,0.7766	benign,benign	256/258,256/258	143539969	101,12905	2203	4300	6503	SO:0001583	missense	81555	exon6			AAAAGACGGAAAT	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.766G>A	5.37:g.143539969C>T	ENSP00000274496:p.Val256Ile	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	85	42	0.494118	NM_001024947	D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	CCDS4279.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	7.832	0.720141	0.15372	9.08E-4	0.011279	ENSG00000145817	ENST00000274496;ENST00000448443;ENST00000513112	T;T;T	0.36699	1.88;1.88;1.24	5.6	2.42	0.29668	.	.	.	.	.	T	0.08582	0.0213	N	0.03967	-0.31	0.53005	D	0.999962	P	0.35527	0.507	B	0.28385	0.089	T	0.19353	-1.0308	9	0.02654	T	1	.	12.1691	0.54148	0.0:0.7814:0.0:0.2186	.	256	Q969M3	YIPF5_HUMAN	I	256;256;202	ENSP00000274496:V256I;ENSP00000397704:V256I;ENSP00000425422:V202I	ENSP00000274496:V256I	V	-	1	0	YIPF5	143520162	0.306000	0.24490	0.615000	0.29064	0.944000	0.59088	0.969000	0.29370	0.730000	0.32425	-0.140000	0.14226	GTC	C|0.993;T|0.007	0.007	strong		0.413	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		T	143539969	C	T	143539969	3	4	23	1	0	0	0	0	1	0	0	0	17478	536	19	1	11	1	YIPF5	5	143539969	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1846021	143539969	37375291	1452	17908										
PLAC8L1	153770	hgsc.bcm.edu	37	chr5	145483844	145483844	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaggaaagatcctcaggacAcctgaagaagttacttccaa	8	9	1	3	rs12187913	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145483844A>T	ENST00000311450.4	-	1	88	c.31T>A	c.(31-33)Tgt>Agt	p.C11S	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	11			C -> S (in dbSNP:rs12187913).					p.C11S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTCAGGACACCTGAAGAAG	0.393													A|||	910	0.181709	0.0076	0.3775	5008	,	,		19898	0.1984		0.2525	False		,,,				2504	0.1881				p.C11S		Atlas-SNP	.											PLAC8L1,NS,carcinoma,0,1	PLAC8L1	17	1	1	Substitution - Missense(1)	stomach(1)	c.T31A						PASS	.	A	SER/CYS	265,4141	149.2+/-183.4	12,241,1950	112	108	110		31	3.5	0	5	dbSNP_120	110	2399,6201	399.0+/-346.3	353,1693,2254	yes	missense	PLAC8L1	NM_001029869.1	112	365,1934,4204	TT,TA,AA		27.8953,6.0145,20.4829	benign	11/178	145483844	2664,10342	2203	4300	6503	SO:0001583	missense	153770	exon1			CAGGACACCTGAA		CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.31T>A	5.37:g.145483844A>T	ENSP00000309087:p.Cys11Ser	Somatic	251	2	0.00796813		WXS	Illumina HiSeq	Phase_I	223	221	0.991031	NM_001029869		Missense_Mutation	SNP	ENST00000311450.4	37	CCDS34264.1	428	0.19597069597069597	10	0.02032520325203252	110	0.30386740331491713	117	0.20454545454545456	191	0.2519788918205805	A	1.154	-0.645856	0.03531	0.060145	0.278953	ENSG00000173261	ENST00000311450	T	0.40476	1.03	4.65	3.48	0.39840	.	0.890661	0.09749	N	0.760823	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.19935	0.04	B	0.16722	0.016	T	0.39722	-0.9600	9	0.21014	T	0.42	0.1326	6.0729	0.19899	0.8734:0.0:0.1266:0.0	rs12187913;rs56464188;rs12187913	11	A1L4L8	PL8L1_HUMAN	S	11	ENSP00000309087:C11S	ENSP00000309087:C11S	C	-	1	0	PLAC8L1	145464037	0.000000	0.05858	0.030000	0.17652	0.008000	0.06430	0.477000	0.22196	0.909000	0.36697	0.460000	0.39030	TGT	A|0.797;T|0.203	0.203	strong		0.393	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		T	145483844	A	T	145483844	3	4	23	1	0	0	0	0	1	0	0	0	12016	159	6	5	518	5	PLAC8L1	5	145483844	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1943875	145483844	35431416	1453	17909										
LARS	51520	hgsc.bcm.edu	37	chr5	145499996	145499996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatcacagttatctccttgcCtgatttcaattttggttgag	7	8	3	2	rs10988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145499996C>T	ENST00000394434.2	-	31	3429	c.3263G>A	c.(3262-3264)aGg>aAg	p.R1088K	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000274562.9_Missense_Mutation_p.R1061K|LARS_ENST00000510191.1_Missense_Mutation_p.R1034K|LARS_ENST00000545646.1_Missense_Mutation_p.R1042K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1088			R -> K (in dbSNP:rs10988). {ECO:0000269|Ref.1}.		gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R1088K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATCTCCTTGCCTGATTTCAAT	0.403													C|||	926	0.184904	0.0189	0.3775	5008	,	,		19608	0.1984		0.2535	False		,,,				2504	0.1881				p.R1088K		Atlas-SNP	.											LARS,NS,carcinoma,0,1	LARS	100	1	1	Substitution - Missense(1)	stomach(1)	c.G3263A						PASS	.	C	LYS/ARG	299,4107	161.8+/-193.9	15,269,1919	134	129	131		3263	4.5	1	5	dbSNP_52	131	2397,6203	398.2+/-346.0	352,1693,2255	yes	missense	LARS	NM_020117.9	26	367,1962,4174	TT,TC,CC		27.8721,6.7862,20.7289	benign	1088/1177	145499996	2696,10310	2203	4300	6503	SO:0001583	missense	51520	exon31			CCTTGCCTGATTT	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3263G>A	5.37:g.145499996C>T	ENSP00000377954:p.Arg1088Lys	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	127	126	0.992126	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	438	0.20054945054945056	20	0.04065040650406504	110	0.30386740331491713	117	0.20454545454545456	191	0.2519788918205805	C	15.39	2.819804	0.50633	0.067862	0.278721	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.62788	0.0;-0.0;0.0;-0.0	5.32	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.63428	1.95	0.19300	P	0.9999771666	B;B;B	0.22683	0.016;0.002;0.073	B;B;B	0.23275	0.012;0.006;0.045	T	0.09684	-1.0663	9	0.28530	T	0.3	.	14.3862	0.66947	0.0:0.9285:0.0:0.0715	rs10988;rs3183233;rs3763369;rs17426951;rs52800413;rs58213459;rs10988	1061;1042;1088	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	K	1088;1042;397;1034;1061	ENSP00000377954:R1088K;ENSP00000437791:R1042K;ENSP00000426005:R1034K;ENSP00000274562:R1061K	ENSP00000274562:R1061K	R	-	2	0	LARS	145480189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.941000	0.63540	1.371000	0.46172	0.650000	0.86243	AGG	C|0.802;N|0.000	.	strong		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145499996	C	T	145499996	3	4	23	1	0	0	0	0	1	0	0	0	8634	681	24	2	275	2	LARS	5	145499996	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16152	145499996	35415264	1454	17910										
LARS	51520	hgsc.bcm.edu	37	chr5	145508340	145508340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgcaggggttgtttgtcAgtcttctagacggtaaaaga	12	6	4	2	rs2895647	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145508340A>G	ENST00000394434.2	-	27	2941	c.2775T>C	c.(2773-2775)acT>acC	p.T925T	LARS_ENST00000274562.9_Silent_p.T898T|LARS_ENST00000510191.1_Silent_p.T871T|LARS_ENST00000545646.1_Silent_p.T879T	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	925					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GTTGTTTGTCAGTCTTCTAGA	0.433													A|||	910	0.181709	0.0076	0.3775	5008	,	,		17138	0.1984		0.2525	False		,,,				2504	0.1881				p.T925T		Atlas-SNP	.											.	LARS	100	.	0			c.T2775C						PASS	.	A		265,4141	149.2+/-183.4	12,241,1950	181	175	177		2775	3.1	1	5	dbSNP_101	177	2398,6202	398.9+/-346.3	352,1694,2254	no	coding-synonymous	LARS	NM_020117.9		364,1935,4204	GG,GA,AA		27.8837,6.0145,20.4752		925/1177	145508340	2663,10343	2203	4300	6503	SO:0001819	synonymous_variant	51520	exon27			TTTGTCAGTCTTC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2775T>C	5.37:g.145508340A>G		Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	292	288	0.986301	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			A|0.799;G|0.201	0.201	strong		0.433	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		G	145508340	A	G	145508340	2	3	23	1	0	0	0	0	0	0	0	1	8634	175	7	3		3	LARS	5	145508340	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	8344	145508340	35406920	1455	17911										
LARS	51520	hgsc.bcm.edu	37	chr5	145508636	145508636	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagtgtattaaaacttcatTaacaggacctgccacaggcc					rs61732383|rs35977062	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145508636T>C	ENST00000394434.2	-	26	2840	c.2674A>G	c.(2674-2676)Aat>Gat	p.N892D	LARS_ENST00000274562.9_Missense_Mutation_p.N865D|LARS_ENST00000510191.1_Missense_Mutation_p.N838D|LARS_ENST00000545646.1_Missense_Mutation_p.N846D	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	892				N -> D (in Ref. 1; BAA95667). {ECO:0000305}.	gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.N892D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAAACTTCATTAACAGGACCT	0.353													C|||	910	0.181709	0.0076	0.3775	5008	,	,		14471	0.1984		0.2525	False		,,,				2504	0.1881				p.N892D		Atlas-SNP	.											LARS,NS,carcinoma,0,1	LARS	100	1	1	Substitution - Missense(1)	stomach(1)	c.A2674G						PASS	.	C	ASP/ASN	257,4149	792.8+/-415.2	12,233,1958	69	79	76		2674	5.7	1	5	dbSNP_129	76	2373,6225	690.3+/-404.4	352,1669,2278	yes	missense	LARS	NM_020117.9	23	364,1902,4236	CC,CT,TT		27.5994,5.833,20.2245	benign	892/1177	145508636	2630,10374	2203	4299	6502	SO:0001583	missense	51520	exon26			CTTCATTAACAGG	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2674A>G	5.37:g.145508636T>C	ENSP00000377954:p.Asn892Asp	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	91	90	0.989011	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	350	0.16025641025641027	8	0.016260162601626018	93	0.2569060773480663	94	0.16433566433566432	155	0.20448548812664907	C	7.868	0.727494	0.15439	0.05833	0.275994	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.73	5.73	0.89815	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00327	-1.64	0.38950	P	0.04167799999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.41805	-0.9488	9	0.02654	T	1	-11.3151	15.0032	0.71489	0.0:0.932:0.0:0.068	.	865;846;892	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	D	892;846;201;838;865	ENSP00000377954:N892D;ENSP00000437791:N846D;ENSP00000426005:N838D;ENSP00000274562:N865D	ENSP00000274562:N865D	N	-	1	0	LARS	145488829	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.788000	0.69020	1.456000	0.47831	-0.119000	0.15052	AAT	T|0.808;C|0.192	0.192	strong		0.353	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		C	145508636	T	C	145508636	3	2	23	1	0	0	0	0	1	0	0	0	8634	1754	61	2	884	2	LARS	5	145508636	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	296	145508636	35406624	1456	17912	372	2								
LARS	51520	hgsc.bcm.edu	37	chr5	145508637	145508637	+	Silent	SNP	A	A	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtgtattaaaacttcattAacaggacctgccacaggcca					rs61732382|rs35977062	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145508637A>C	ENST00000394434.2	-	26	2839	c.2673T>G	c.(2671-2673)gtT>gtG	p.V891V	LARS_ENST00000274562.9_Silent_p.V864V|LARS_ENST00000510191.1_Silent_p.V837V|LARS_ENST00000545646.1_Silent_p.V845V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	891					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.V891V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAACTTCATTAACAGGACCTG	0.353													C|||	910	0.181709	0.0076	0.3775	5008	,	,		14540	0.1984		0.2525	False		,,,				2504	0.1881				p.V891V		Atlas-SNP	.											LARS,NS,carcinoma,0,1	LARS	100	1	1	Substitution - coding silent(1)	stomach(1)	c.T2673G						PASS	.	C		260,4146	793.6+/-415.2	12,236,1955	68	77	74		2673	4.8	1	5	dbSNP_129	74	2381,6217	691.9+/-404.5	352,1677,2270	no	coding-synonymous	LARS	NM_020117.9		364,1913,4225	CC,CA,AA		27.6925,5.901,20.3091		891/1177	145508637	2641,10363	2203	4299	6502	SO:0001819	synonymous_variant	51520	exon26			TTCATTAACAGGA	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2673T>G	5.37:g.145508637A>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	89	88	0.988764	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			A|0.808;C|0.192	0.192	strong		0.353	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		C	145508637	A	C	145508637	2	2	23	1	0	0	0	0	0	0	0	1	8634	349	13	5		5	LARS	5	145508637	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1	145508637	35406623	1457	17913	372	2								
LARS	51520	hgsc.bcm.edu	37	chr5	145519821	145519821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacagctgtaggccatttGtcacttcacagataaatgtt	7	10	3	1	rs17493851	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145519821G>A	ENST00000394434.2	-	21	2260	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	LARS_ENST00000274562.9_Silent_p.D671D|LARS_ENST00000510191.1_Silent_p.D644D|LARS_ENST00000545646.1_Silent_p.D652D	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	698					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.D698D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TAGGCCATTTGTCACTTCACA	0.343													G|||	910	0.181709	0.0076	0.3775	5008	,	,		16403	0.1984		0.2525	False		,,,				2504	0.1881				p.D698D		Atlas-SNP	.											LARS,colon,carcinoma,0,2	LARS	100	2	1	Substitution - coding silent(1)	stomach(1)	c.C2094T						PASS	.	G		265,4141	148.0+/-182.4	12,241,1950	69	68	68		2094	2.7	1	5	dbSNP_123	68	2398,6202	398.1+/-346.0	352,1694,2254	yes	coding-synonymous	LARS	NM_020117.9		364,1935,4204	AA,AG,GG		27.8837,6.0145,20.4752		698/1177	145519821	2663,10343	2203	4300	6503	SO:0001819	synonymous_variant	51520	exon21			CCATTTGTCACTT	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2094C>T	5.37:g.145519821G>A		Somatic	255	2	0.00784314		WXS	Illumina HiSeq	Phase_I	195	195	1	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			G|0.799;A|0.201	0.201	strong		0.343	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		A	145519821	G	A	145519821	2	1	23	1	0	0	0	0	0	0	0	1	8634	1368	48	2		2	LARS	5	145519821	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11184	145519821	35395439	1458	17914										
LARS	51520	hgsc.bcm.edu	37	chr5	145523105	145523105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccactgctcatcccaaggcaGgtgagtgcctgaaaaataaa	9	11	1	2	rs11540217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145523105G>A	ENST00000394434.2	-	19	1913	c.1747C>T	c.(1747-1749)Ctg>Ttg	p.L583L	LARS_ENST00000274562.9_Silent_p.L556L|LARS_ENST00000510191.1_Silent_p.L529L|LARS_ENST00000545646.1_Silent_p.L537L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	583					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCCAAGGCAGGTGAGTGCCT	0.413													A|||	910	0.181709	0.0076	0.3775	5008	,	,		15082	0.1984		0.2525	False		,,,				2504	0.1881				p.L583L		Atlas-SNP	.											.	LARS	100	.	0			c.C1747T						PASS	.	A		265,4141	802.3+/-415.7	12,241,1950	98	97	97		1747	-0.3	0.9	5	dbSNP_120	97	2397,6203	699.0+/-405.1	352,1693,2255	no	coding-synonymous	LARS	NM_020117.9		364,1934,4205	AA,AG,GG		27.8721,6.0145,20.4675		583/1177	145523105	2662,10344	2203	4300	6503	SO:0001819	synonymous_variant	51520	exon19			AAGGCAGGTGAGT	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1747C>T	5.37:g.145523105G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	42	42	1	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			G|0.794;A|0.206	0.206	strong		0.413	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		A	145523105	G	A	145523105	2	1	23	1	0	0	0	0	0	0	0	1	8634	991	35	2		2	LARS	5	145523105	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3284	145523105	35392155	1459	17915										
LARS	51520	hgsc.bcm.edu	37	chr5	145539996	145539996	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaattgccatctgacaaaTgaatcatagtaaggattaac	6	6	2	2	rs11540214	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145539996T>G	ENST00000394434.2	-	7	814	c.648A>C	c.(646-648)tcA>tcC	p.S216S	LARS_ENST00000274562.9_Silent_p.S189S|LARS_ENST00000510191.1_Silent_p.S162S|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.S170S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	216					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.S216S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATCTGACAAATGAATCATAGT	0.308																																					p.S216S		Atlas-SNP	.											LARS,NS,carcinoma,0,2	LARS	100	2	1	Substitution - coding silent(1)	stomach(1)	c.A648C						PASS	.	T		266,4140	145.7+/-180.5	12,242,1949	53	50	51		648	-11.4	0.6	5	dbSNP_120	51	2395,6205	388.3+/-342.5	350,1695,2255	no	coding-synonymous	LARS	NM_020117.9		362,1937,4204	GG,GT,TT		27.8488,6.0372,20.4598		216/1177	145539996	2661,10345	2203	4300	6503	SO:0001819	synonymous_variant	51520	exon7			GACAAATGAATCA	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.648A>C	5.37:g.145539996T>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	173	172	0.99422	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			T|0.793;G|0.207	0.207	strong		0.308	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		G	145539996	T	G	145539996	2	3	23	1	0	0	0	0	0	0	0	1	8634	1451	51	5		5	LARS	5	145539996	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	16891	145539996	35375264	1460	17916										
LARS	51520	hgsc.bcm.edu	37	chr5	145543972	145543972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actatctcttcatcagacagGccaagggatttcataatgcc	7	11	4	1	rs3763373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145543972G>A	ENST00000394434.2	-	6	661	c.495C>T	c.(493-495)ggC>ggT	p.G165G	LARS_ENST00000274562.9_Silent_p.G138G|LARS_ENST00000510191.1_Silent_p.G111G|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.G119G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	165					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.G165G(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATCAGACAGGCCAAGGGATT	0.378													A|||	910	0.181709	0.0076	0.3775	5008	,	,		16692	0.1984		0.2525	False		,,,				2504	0.1881				p.G165G		Atlas-SNP	.											LARS,NS,carcinoma,0,1	LARS	100	1	1	Substitution - coding silent(1)	stomach(1)	c.C495T						PASS	.	A		266,4140	802.1+/-415.6	12,242,1949	148	155	153		495	-5	0.3	5	dbSNP_107	153	2401,6199	699.8+/-405.1	352,1697,2251	no	coding-synonymous	LARS	NM_020117.9		364,1939,4200	AA,AG,GG		27.9186,6.0372,20.5059		165/1177	145543972	2667,10339	2203	4300	6503	SO:0001819	synonymous_variant	51520	exon6			AGACAGGCCAAGG	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.495C>T	5.37:g.145543972G>A		Somatic	296	2	0.00675676		WXS	Illumina HiSeq	Phase_I	219	217	0.990868	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			G|0.801;A|0.199	0.199	strong		0.378	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		A	145543972	G	A	145543972	2	1	23	1	0	0	0	0	0	0	0	1	8634	1190	42	2		2	LARS	5	145543972	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3976	145543972	35371288	1461	17917										
GPR151	134391	hgsc.bcm.edu	37	chr5	145894882	145894882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagccaagctacccattcGgggagccacaagagagcaga	11	13	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:145894882G>A	ENST00000311104.2	-	1	871	c.795C>T	c.(793-795)ccC>ccT	p.P265P		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACCCATTCGGGGAGCCACA	0.507																																					p.P265P	Pancreas(78;420 1386 18535 37114 49710)	Atlas-SNP	.											.	GPR151	35	.	0			c.C795T						PASS	.						54	56	56					5																	145894882		2203	4300	6503	SO:0001819	synonymous_variant	134391	exon1			CCATTCGGGGAGC	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.795C>T	5.37:g.145894882G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	113	32	0.283186	NM_194251	Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	CCDS34266.1																																																																																			.	.	none		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		A	145894882	G	A	145894882	2	1	23	1	0	0	0	0	0	0	0	1	6657	1103	39	1		1	GPR151	5	145894882	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	350910	145894882	35020378	1462	17918										
SH3TC2	79628	hgsc.bcm.edu	37	chr5	148386525	148386525	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttgggactctgcagccaTggtggacagagggacagggt	16	9	1	1	rs6871030	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:148386525T>G	ENST00000515425.1	-	16	3695	c.3594A>C	c.(3592-3594)ccA>ccC	p.P1198P	SH3TC2_ENST00000502274.1_Silent_p.P60P|SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Silent_p.P1191P	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1198					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCAGCCATGGTGGACAGA	0.562													G|||	1920	0.383387	0.4902	0.3055	5008	,	,		19946	0.2222		0.4046	False		,,,				2504	0.4387				p.P1198P		Atlas-SNP	.											.	SH3TC2	178	.	0			c.A3594C						PASS	.	G		2477,1929		478,1521,204	122	121	122		3594	-2.6	0.6	5	dbSNP_116	122	3502,5098		681,2140,1479	no	coding-synonymous	SH3TC2	NM_024577.3		1159,3661,1683	GG,GT,TT		40.7209,43.7812,45.9711		1198/1289	148386525	5979,7027	2203	4300	6503	SO:0001819	synonymous_variant	79628	exon16			CAGCCATGGTGGA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3594A>C	5.37:g.148386525T>G		Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	264	126	0.477273	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																			C|0.005;G|0.447;T|0.549	0.447	strong		0.562	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148386525	T	G	148386525	2	3	23	1	0	0	0	0	0	0	0	1	14262	1451	51	5		5	SH3TC2	5	148386525	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2491643	148386525	32528735	1463	17919										
SH3TC2	79628	hgsc.bcm.edu	37	chr5	148407893	148407893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaaaagccaatatgggggCgaagttctcagcctcctcct	10	12	1	1	rs6875902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:148407893C>A	ENST00000515425.1	-	11	1503	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A15S|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A461S|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A353S	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	468			A -> S (in dbSNP:rs6875902). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:15489334}.		cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATGGGGGCGAAGTTCTCA	0.502													C|||	983	0.196286	0.3351	0.1326	5008	,	,		21682	0.0198		0.2207	False		,,,				2504	0.2106				p.A468S		Atlas-SNP	.											.	SH3TC2	178	.	0			c.G1402T						PASS	.	C	SER/ALA	1347,3059	446.5+/-348.0	212,923,1068	86	90	89		1402	0.8	0	5	dbSNP_116	89	1752,6848	317.0+/-313.0	170,1412,2718	yes	missense	SH3TC2	NM_024577.3	99	382,2335,3786	AA,AC,CC		20.3721,30.5719,23.8275	benign	468/1289	148407893	3099,9907	2203	4300	6503	SO:0001583	missense	79628	exon11			TGGGGGCGAAGTT	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1402G>T	5.37:g.148407893C>A	ENSP00000423660:p.Ala468Ser	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	53	30	0.566038	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	403	0.18452380952380953	154	0.3130081300813008	64	0.17679558011049723	16	0.027972027972027972	169	0.22295514511873352	C	4.539	0.100081	0.08731	0.305719	0.203721	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.80304	-1.36;-0.93;-0.92;-0.56	6.03	0.802	0.18686	.	0.446910	0.23591	N	0.046555	T	0.00012	0.0000	L	0.42245	1.32	0.80722	P	0.0	B;P;P;P	0.46395	0.129;0.877;0.877;0.877	B;B;B;B	0.40982	0.065;0.345;0.345;0.345	T	0.09796	-1.0658	9	0.18276	T	0.48	.	11.5415	0.50669	0.0:0.6777:0.0927:0.2296	rs6875902;rs52794538;rs58221348;rs6875902	353;461;468;468	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	S	15;468;461;353	ENSP00000441427:A15S;ENSP00000423660:A468S;ENSP00000421860:A461S;ENSP00000377886:A353S	ENSP00000377886:A353S	A	-	1	0	SH3TC2	148388086	0.808000	0.29022	0.006000	0.13384	0.123000	0.20343	0.945000	0.29056	-0.042000	0.13535	-0.797000	0.03246	GCC	C|0.784;A|0.216	0.216	strong		0.502	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148407893	C	A	148407893	3	1	23	1	0	0	0	0	1	0	0	0	14262	768	27	4	2492	4	SH3TC2	5	148407893	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21368	148407893	32507367	1464	17920										
SH3TC2	79628	hgsc.bcm.edu	37	chr5	148408101	148408101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggcctgacctccttgaaAccttcaggctgggatgctgt	11	13	1	2	rs1432793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:148408101A>G	ENST00000515425.1	-	11	1295	c.1194T>C	c.(1192-1194)ggT>ggC	p.G398G	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Silent_p.G391G|SH3TC2_ENST00000394358.2_Silent_p.G283G	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	398					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.G283G(1)|p.G398G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTGAAACCTTCAGGCT	0.607													G|||	2189	0.437101	0.6172	0.3516	5008	,	,		20639	0.2222		0.4652	False		,,,				2504	0.4468				p.G398G		Atlas-SNP	.											SH3TC2_ENST00000394358,NS,carcinoma,0,2	SH3TC2	178	2	2	Substitution - coding silent(2)	prostate(2)	c.T1194C						PASS	.	G		2469,1937	510.4+/-367.5	699,1071,433	33	34	34		1194	3.6	0.6	5	dbSNP_88	34	3835,4765	586.5+/-392.0	860,2115,1325	no	coding-synonymous	SH3TC2	NM_024577.3		1559,3186,1758	GG,GA,AA		44.593,43.9628,48.4699		398/1289	148408101	6304,6702	2203	4300	6503	SO:0001819	synonymous_variant	79628	exon11			CTTGAAACCTTCA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1194T>C	5.37:g.148408101A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																			A|0.535;G|0.465	0.465	strong		0.607	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148408101	A	G	148408101	2	3	23	1	0	0	0	0	0	0	0	1	14262	30	2	2		2	SH3TC2	5	148408101	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	208	148408101	32507159	1465	17921										
PCYOX1L	78991	hgsc.bcm.edu	37	chr5	148747902	148747902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcgaaagcagccccaggaGgcagctgtttggcgagtcca	15	12	0	0	rs4705336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:148747902G>C	ENST00000274569.4	+	6	1232	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.E300D	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	390			E -> D (in dbSNP:rs4705336). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.E390D(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAGGAGGCAGCTGTTT	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	427	0.0852636	0.0136	0.1499	5008	,	,		17418	0.001		0.1958	False		,,,				2504	0.1094				p.E390D	Ovarian(62;1136 1477 27277 27495)	Atlas-SNP	.											PCYOX1L,NS,carcinoma,0,1	PCYOX1L	32	1	1	Substitution - Missense(1)	stomach(1)	c.G1170C						PASS	.	G	ASP/GLU	171,4235	110.8+/-149.0	7,157,2039	92	98	96		1170	0.5	1	5	dbSNP_111	96	1635,6965	302.8+/-306.1	157,1321,2822	yes	missense	PCYOX1L	NM_024028.3	45	164,1478,4861	CC,CG,GG		19.0116,3.8811,13.8859	possibly-damaging	390/495	148747902	1806,11200	2203	4300	6503	SO:0001583	missense	78991	exon6			CCAGGAGGCAGCT		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1170G>C	5.37:g.148747902G>C	ENSP00000274569:p.Glu390Asp	Somatic	191	0	0	1719	WXS	Illumina HiSeq	Phase_I	193	85	0.440415	NM_024028	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	219	0.10027472527472528	11	0.022357723577235773	55	0.15193370165745856	0	0.0	153	0.20184696569920843	G	18.72	3.684287	0.68157	0.038811	0.190116	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14766	2.48;2.48	5.51	0.481	0.16809	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.41824	1.3	0.18873	P	0.9999861451	D;P;P	0.76494	0.999;0.854;0.659	D;B;B	0.80764	0.994;0.376;0.305	T	0.22068	-1.0227	9	0.15066	T	0.55	-23.4901	5.324	0.15896	0.3781:0.133:0.4888:0.0	rs4705336;rs4705336	272;300;390	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	D	390;300	ENSP00000274569:E390D;ENSP00000428512:E300D	ENSP00000274569:E390D	E	+	3	2	PCYOX1L	148728095	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	0.648000	0.24828	-0.223000	0.09943	0.561000	0.74099	GAG	G|0.877;C|0.123	0.123	strong		0.567	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		C	148747902	G	C	148747902	3	2	23	1	0	0	0	0	1	0	0	0	11609	991	35	4	1192	4	PCYOX1L	5	148747902	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	339801	148747902	32167358	1466	17922										
ARHGEF37	389337	hgsc.bcm.edu	37	chr5	149008467	149008467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcggggctgaacaaagacCcccgatgtctaacaccggag	13	12	1	2	rs3733662	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149008467C>A	ENST00000333677.6	+	12	1919	c.1756C>A	c.(1756-1758)Ccc>Acc	p.P586T		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	586			P -> T (in dbSNP:rs3733662).			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GAACAAAGACCCCCGATGTCT	0.602													C|||	803	0.160343	0.0189	0.1412	5008	,	,		17591	0.3333		0.1501	False		,,,				2504	0.1973				p.P586T		Atlas-SNP	.											.	ARHGEF37	45	.	0			c.C1756A						PASS	.	C	THR/PRO	154,3812		0,154,1829	49	54	52		1756	2.9	0	5	dbSNP_107	52	1277,7041		87,1103,2969	yes	missense	ARHGEF37	NM_001001669.2	38	87,1257,4798	AA,AC,CC		15.3522,3.883,11.6493	benign	586/676	149008467	1431,10853	1983	4159	6142	SO:0001583	missense	389337	exon12			AAAGACCCCCGAT	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1756C>A	5.37:g.149008467C>A	ENSP00000328083:p.Pro586Thr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	66	26	0.393939	NM_001001669	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	364	0.16666666666666666	9	0.018292682926829267	59	0.16298342541436464	179	0.3129370629370629	117	0.15435356200527706	C	5.285	0.237941	0.10023	0.03883	0.153522	ENSG00000183111	ENST00000333677	T	0.55052	0.54	5.4	2.86	0.33363	.	0.980252	0.08377	N	0.955147	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.34551	-0.9824	9	0.22706	T	0.39	-0.6438	3.7967	0.08743	0.2349:0.1019:0.0:0.6632	rs3733662;rs58657387;rs3733662	586	A1IGU5	ARH37_HUMAN	T	586	ENSP00000328083:P586T	ENSP00000328083:P586T	P	+	1	0	ARHGEF37	148988660	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.583000	0.23849	0.267000	0.21916	-0.339000	0.08088	CCC	C|0.839;A|0.161	0.161	strong		0.602	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		A	149008467	C	A	149008467	3	1	23	1	0	0	0	0	1	0	0	0	906	623	22	4	1798	4	ARHGEF37	5	149008467	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	260565	149008467	31906793	1467	17923										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149242788	149242788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcgattgttggtgatcccGtccaacattggggtgatctc	12	9	1	2	rs4705390	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149242788G>A	ENST00000255266.5	-	21	2519	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	800					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGGTGATCCCGTCCAACATTG	0.552													G|||	132	0.0263578	0.0038	0.0793	5008	,	,		24054	0.002		0.0268	False		,,,				2504	0.044				p.D800D		Atlas-SNP	.											PDE6A,NS,carcinoma,-2,1	PDE6A	98	1	0			c.C2400T						scavenged	.	G		31,4375	38.4+/-70.7	0,31,2172	221	182	195		2400	-10.1	0.7	5	dbSNP_111	195	316,8284	113.5+/-173.5	6,304,3990	no	coding-synonymous	PDE6A	NM_000440.2		6,335,6162	AA,AG,GG		3.6744,0.7036,2.668		800/861	149242788	347,12659	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon21			GATCCCGTCCAAC		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2400C>T	5.37:g.149242788G>A		Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	220	95	0.431818	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			A|0.027;G|0.973;T|0.000	0.027	strong		0.552	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149242788	G	A	149242788	2	1	23	1	0	0	0	0	0	0	0	1	11645	1136	40	1		1	PDE6A	5	149242788	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	234321	149242788	31672472	1468	17924										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149245754	149245754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtagacgaaggtgcaaacAaagtcaatgaagccgacttg	11	7	1	2	rs17110644	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149245754A>G	ENST00000255266.5	-	20	2456	c.2337T>C	c.(2335-2337)ttT>ttC	p.F779F		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	779					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGGTGCAAACAAAGTCAATGA	0.458													A|||	274	0.0547125	0.1044	0.0865	5008	,	,		20697	0.005		0.0278	False		,,,				2504	0.044				p.F779F		Atlas-SNP	.											.	PDE6A	98	.	0			c.T2337C						PASS	.	A		404,4002	201.5+/-224.5	22,360,1821	161	147	152		2337	-6.7	0.4	5	dbSNP_123	152	318,8282	113.7+/-173.7	6,306,3988	no	coding-synonymous	PDE6A	NM_000440.2		28,666,5809	GG,GA,AA		3.6977,9.1693,5.5513		779/861	149245754	722,12284	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon20			GCAAACAAAGTCA		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2337T>C	5.37:g.149245754A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	89	32	0.359551	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			A|0.946;G|0.054	0.054	strong		0.458	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			G	149245754	A	G	149245754	2	3	23	1	0	0	0	0	0	0	0	1	11645	127	5	2		2	PDE6A	5	149245754	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2966	149245754	31669506	1469	17925										
PDE6A	5145	hgsc.bcm.edu	37	chr5	149265875	149265875	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtggtcaatgtcatggcaGaaagcagcagtgaccatggc	13	9	2	2	rs61733360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149265875G>A	ENST00000255266.5	-	14	1910	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	597					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.F597F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGTCATGGCAGAAAGCAGCAG	0.527													G|||	133	0.0265575	0.003	0.0749	5008	,	,		20466	0.0119		0.0308	False		,,,				2504	0.0348				p.F597F		Atlas-SNP	.											PDE6A,NS,carcinoma,0,1	PDE6A	98	1	1	Substitution - coding silent(1)	stomach(1)	c.C1791T						PASS	.	G		37,4369	43.1+/-76.7	0,37,2166	155	130	138		1791	5.7	1	5	dbSNP_129	138	325,8275	114.6+/-174.5	8,309,3983	no	coding-synonymous	PDE6A	NM_000440.2		8,346,6149	AA,AG,GG		3.7791,0.8398,2.7833		597/861	149265875	362,12644	2203	4300	6503	SO:0001819	synonymous_variant	5145	exon14			ATGGCAGAAAGCA		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1791C>T	5.37:g.149265875G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	163	79	0.484663	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																			G|0.969;A|0.031	0.031	strong		0.527	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149265875	G	A	149265875	2	1	23	1	0	0	0	0	0	0	0	1	11645	933	33	2		2	PDE6A	5	149265875	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20121	149265875	31649385	1470	17926										
SLC26A2	1836	hgsc.bcm.edu	37	chr5	149361221	149361221	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggctcagtgcaatcccActgtgagggattccctaacc	10	13	1	1	rs3776070	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149361221A>T	ENST00000286298.4	+	3	2333	c.2065A>T	c.(2065-2067)Act>Tct	p.T689S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	689	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.		T -> S (in dbSNP:rs3776070).		3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGCAATCCCACTGTGAGGGA	0.423													T|||	966	0.192891	0.3109	0.2738	5008	,	,		21544	0.1022		0.159	False		,,,				2504	0.1043				p.T689S		Atlas-SNP	.											.	SLC26A2	48	.	0			c.A2065T						PASS	.	T	SER/THR	1270,3136	700.3+/-406.6	175,920,1108	59	61	60		2065	5.7	1	5	dbSNP_107	60	1251,7349	760.8+/-407.6	86,1079,3135	yes	missense	SLC26A2	NM_000112.3	58	261,1999,4243	TT,TA,AA		14.5465,28.8243,19.3834	benign	689/740	149361221	2521,10485	2203	4300	6503	SO:0001583	missense	1836	exon3			AATCCCACTGTGA	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.2065A>T	5.37:g.149361221A>T	ENSP00000286298:p.Thr689Ser	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	416	0.19047619047619047	141	0.2865853658536585	89	0.24585635359116023	69	0.12062937062937062	117	0.15435356200527706	T	0.011	-1.700543	0.00725	0.288243	0.145465	ENSG00000155850	ENST00000286298	D	0.87571	-2.27	5.72	5.72	0.89469	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00690	-1.25	0.45662	P	0.001415000000000055	B	0.02656	0.0	B	0.06405	0.002	T	0.06356	-1.0831	9	0.06625	T	0.88	.	12.3382	0.55079	0.1268:0.0:0.0:0.8732	rs3776070;rs52815587;rs60210541;rs3776070	689	P50443	S26A2_HUMAN	S	689	ENSP00000286298:T689S	ENSP00000286298:T689S	T	+	1	0	SLC26A2	149341414	0.995000	0.38212	0.977000	0.42913	0.148000	0.21650	2.480000	0.45206	1.001000	0.39076	-0.257000	0.10917	ACT	A|0.811;T|0.190	0.190	strong		0.423	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		T	149361221	A	T	149361221	3	4	23	1	0	0	0	0	1	0	0	0	14517	159	6	5	2071	5	SLC26A2	5	149361221	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	95346	149361221	31554039	1471	17927										
CSF1R	1436	hgsc.bcm.edu	37	chr5	149457678	149457678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatctgcagggactgaccttGgtgttgttgtgttggaggaa	16	5	1	1	rs2228422	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149457678G>A	ENST00000286301.3	-	5	1017	c.726C>T	c.(724-726)acC>acT	p.T242T	CSF1R_ENST00000543093.1_Silent_p.T242T	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	242	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.T242T(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GACTGACCTTGGTGTTGTTGT	0.572													G|||	1940	0.38738	0.2799	0.366	5008	,	,		20014	0.2113		0.5457	False		,,,				2504	0.5665				p.T242T		Atlas-SNP	.											CSF1R_ENST00000286301,NS,carcinoma,0,1	CSF1R	250	1	1	Substitution - coding silent(1)	stomach(1)	c.C726T						scavenged	.	G		1388,3018	457.5+/-351.6	220,948,1035	224	186	199		726	-0.9	1	5	dbSNP_98	199	4864,3736	618.2+/-396.8	1391,2082,827	no	coding-synonymous	CSF1R	NM_005211.3		1611,3030,1862	AA,AG,GG		43.4419,31.5025,48.0701		242/973	149457678	6252,6754	2203	4300	6503	SO:0001819	synonymous_variant	1436	exon5			GACCTTGGTGTTG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.726C>T	5.37:g.149457678G>A		Somatic	311	3	0.0096463		WXS	Illumina HiSeq	Phase_I	267	266	0.996255	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	CCDS4302.1																																																																																			G|0.561;A|0.439	0.439	strong		0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		A	149457678	G	A	149457678	2	1	23	1	0	0	0	0	0	0	0	1	3932	1335	47	2		2	CSF1R	5	149457678	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	96457	149457678	31457582	1472	17928										
SYNPO	11346	hgsc.bcm.edu	37	chr5	149998128	149998128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcagcaggagtggggacGactctgcctgcagagtcacc	16	11	3	1	rs6579797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:149998128G>A	ENST00000394243.1	+	2	573	c.199G>A	c.(199-201)Gac>Aac	p.D67N	SYNPO_ENST00000522122.1_Missense_Mutation_p.D67N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	67					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTGGGGACGACTCTGCCTG	0.667													A|||	861	0.171925	0.2648	0.0461	5008	,	,		18209	0.2738		0.0149	False		,,,				2504	0.1922				p.D67N		Atlas-SNP	.											SYNPO_ENST00000394243,colon,carcinoma,0,1	SYNPO	147	1	0			c.G199A						PASS	.	A	ASN/ASP,ASN/ASP	325,1059		33,259,400	50	64	60		199,199	3.6	0.1	5	dbSNP_116	60	41,3141		0,41,1550	yes	missense,missense	SYNPO	NM_001166208.1,NM_001166209.1	23,23	33,300,1950	AA,AG,GG		1.2885,23.4827,8.0158	,	67/930,67/930	149998128	366,4200	692	1591	2283	SO:0001583	missense	11346	exon2			GGGGACGACTCTG	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.199G>A	5.37:g.149998128G>A	ENSP00000377789:p.Asp67Asn	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	228	120	0.526316	NM_001166209	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	CCDS54937.1	312	0.14285714285714285	130	0.26422764227642276	14	0.03867403314917127	157	0.2744755244755245	11	0.014511873350923483	A	0.175	-1.067557	0.01934	0.234827	0.012885	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.22134	1.97;1.97	3.56	3.56	0.40772	.	1.605810	0.04156	N	0.322269	T	0.00012	0.0000	N	0.00926	-1.1	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39840	-0.9594	9	0.02654	T	1	-0.7622	5.5763	0.17225	0.8694:0.0:0.1306:0.0	rs6579797;rs6579797	67	Q8N3V7	SYNPO_HUMAN	N	67	ENSP00000377789:D67N;ENSP00000428378:D67N	ENSP00000377789:D67N	D	+	1	0	SYNPO	149978321	0.124000	0.22315	0.069000	0.20011	0.651000	0.38670	1.109000	0.31135	0.442000	0.26555	-0.521000	0.04368	GAC	G|0.850;A|0.150	0.150	strong		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		A	149998128	G	A	149998128	3	1	23	1	0	0	0	0	1	0	0	0	15453	1058	37	1	201	1	SYNPO	5	149998128	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	540450	149998128	30917132	1473	17929										
ZNF300	91975	hgsc.bcm.edu	37	chr5	150275835	150275835	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaacaatcataaggtttCtccccagtatgagttctctg	7	10	4	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150275835C>A	ENST00000274599.5	-	6	1386	c.966G>T	c.(964-966)gaG>gaT	p.E322D	ZNF300_ENST00000418587.2_Missense_Mutation_p.E286D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.E338D|ZNF300_ENST00000394226.2_Missense_Mutation_p.E322D	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	322					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(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAAGGTTTCTCCCCAGTAT	0.398																																					p.E338D		Atlas-SNP	.											.	ZNF300	69	.	0			c.G1014T						PASS	.						84	89	87					5																	150275835		2202	4299	6501	SO:0001583	missense	91975	exon7			AGGTTTCTCCCCA	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.966G>T	5.37:g.150275835C>A	ENSP00000274599:p.Glu322Asp	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	102	26	0.254902	NM_001172831	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289152	0.59976	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.59	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29817	0.0745	L	0.41961	1.31	0.26287	N	0.97818	P	0.47484	0.896	P	0.50136	0.632	T	0.08432	-1.0722	9	0.72032	D	0.01	.	8.7303	0.34494	0.0:0.8839:0.0:0.1161	.	322	Q96RE9	ZN300_HUMAN	D	338;322;286;322	ENSP00000397178:E338D;ENSP00000274599:E322D;ENSP00000392593:E286D;ENSP00000377773:E322D	ENSP00000274599:E322D	E	-	3	2	ZNF300	150256028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.994000	0.40757	0.846000	0.35142	0.563000	0.77884	GAG	.	.	none		0.398	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		A	150275835	C	A	150275835	3	1	23	1	0	0	0	0	1	0	0	0	17828	912	32	4	852	4	ZNF300	5	150275835	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	277707	150275835	30639425	1474	17930										
GM2A	2760	hgsc.bcm.edu	37	chr5	150647012	150647012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctctctaaagggcatataAcatggcatctgccacagcag	9	12	2	0	rs1048723	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150647012A>G	ENST00000357164.3	+	4	907	c.582A>G	c.(580-582)taA>taG	p.*194*		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	0					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCATATAACATGGCATCT	0.552													A|||	1330	0.265575	0.0885	0.4524	5008	,	,		21786	0.2698		0.3171	False		,,,				2504	0.3149				p.X194X		Atlas-SNP	.											.	GM2A	24	.	0			c.A582G						PASS	.	A	,	585,3821	256.1+/-261.0	41,503,1659	94	93	93		582,	-2.1	0	5	dbSNP_86	93	2395,6205	397.7+/-345.9	338,1719,2243	no	coding-synonymous,intron	GM2A	NM_000405.4,NM_001167607.1	,	379,2222,3902	GG,GA,AA		27.8488,13.2773,22.9125	,	194/194,	150647012	2980,10026	2203	4300	6503	SO:0001819	synonymous_variant	2760	exon4			CATATAACATGGC		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.582A>G	5.37:g.150647012A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	133	64	0.481203	NM_000405	B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	CCDS4313.1																																																																																			A|0.762;G|0.238;T|0.000	0.238	strong		0.552	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		G	150647012	A	G	150647012	2	3	23	1	0	0	0	0	0	0	0	1	6484	50	2	2		2	GM2A	5	150647012	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	371177	150647012	30268248	1475	17931										
FAT2	2196	hgsc.bcm.edu	37	chr5	150931082	150931082	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaacagtcaagttatagttCgaccttctcctggtatcaag	7	10	4	0	rs55719915	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150931082C>G	ENST00000261800.5	-	6	4254	c.4242G>C	c.(4240-4242)tcG>tcC	p.S1414S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1414	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTATAGTTCGACCTTCTCC	0.537													C|||	72	0.014377	0.0	0.0159	5008	,	,		19062	0.0		0.0239	False		,,,				2504	0.0378				p.S1414S		Atlas-SNP	.											FAT2,colon,carcinoma,-1,1	FAT2	465	1	0			c.G4242C						PASS	.	C		21,4385	28.1+/-56.4	0,21,2182	175	148	157		4242	-10.9	0	5	dbSNP_129	157	151,8449	73.2+/-135.9	0,151,4149	no	coding-synonymous	FAT2	NM_001447.2		0,172,6331	GG,GC,CC		1.7558,0.4766,1.3225		1414/4350	150931082	172,12834	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon6			ATAGTTCGACCTT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4242G>C	5.37:g.150931082C>G		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	231	105	0.454545	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			C|0.987;G|0.013	0.013	strong		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150931082	C	G	150931082	2	3	23	1	0	0	0	0	0	0	0	1	5690	871	31	4		4	FAT2	5	150931082	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	284070	150931082	29984178	1476	17932										
FAT2	2196	hgsc.bcm.edu	37	chr5	150945483	150945483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgggctaggggcctcccacCatcactggcccacaggctca	12	17	2	0	rs3734055	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150945483C>T	ENST00000261800.5	-	1	3022	c.3010G>A	c.(3010-3012)Ggt>Agt	p.G1004S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1004	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> S (in dbSNP:rs3734055).		epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTCCCACCATCACTGGCC	0.597													T|||	2016	0.402556	0.3767	0.4524	5008	,	,		17724	0.3571		0.4901	False		,,,				2504	0.3589				p.G1004S		Atlas-SNP	.											.	FAT2	465	.	0			c.G3010A						PASS	.	T	SER/GLY	1713,2693	641.3+/-397.4	335,1043,825	44	37	39		3010	3.2	1	5	dbSNP_107	39	4496,4104	554.9+/-386.6	1181,2134,985	yes	missense	FAT2	NM_001447.2	56	1516,3177,1810	TT,TC,CC		47.7209,38.8788,47.7395	benign	1004/4350	150945483	6209,6797	2203	4300	6503	SO:0001583	missense	2196	exon1			TCCCACCATCACT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3010G>A	5.37:g.150945483C>T	ENSP00000261800:p.Gly1004Ser	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	138	68	0.492754	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	935	0.4281135531135531	204	0.4146341463414634	161	0.4447513812154696	202	0.3531468531468531	368	0.48548812664907653	T	9.338	1.062294	0.19987	0.388788	0.522791	ENSG00000086570	ENST00000261800	T	0.50001	0.76	5.53	3.19	0.36642	Cadherin (4);Cadherin-like (1);	0.327956	0.30464	N	0.009564	T	0.00012	0.0000	L	0.39397	1.21	0.49798	P	1.7800000000001148E-4	B	0.06786	0.001	B	0.12156	0.007	T	0.47535	-0.9110	9	0.06236	T	0.91	.	4.9317	0.13921	0.0:0.3749:0.1616:0.4635	rs3734055;rs52828169;rs3734055	1004	Q9NYQ8	FAT2_HUMAN	S	1004	ENSP00000261800:G1004S	ENSP00000261800:G1004S	G	-	1	0	FAT2	150925676	0.146000	0.22672	0.999000	0.59377	0.963000	0.63663	0.364000	0.20325	0.402000	0.25451	-0.254000	0.11334	GGT	C|0.544;T|0.456	0.456	strong		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150945483	C	T	150945483	3	4	23	1	0	0	0	0	1	0	0	0	5690	594	21	2	10131	2	FAT2	5	150945483	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14401	150945483	29969777	1477	17933										
FAT2	2196	hgsc.bcm.edu	37	chr5	150945699	150945699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggtcctctggaaccttcaGcctgttgtgttctgtgatgc	11	11	3	1	rs10085060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150945699G>A	ENST00000261800.5	-	1	2806	c.2794C>T	c.(2794-2796)Ctg>Ttg	p.L932L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	932	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAACCTTCAGCCTGTTGTGT	0.547													G|||	2102	0.419728	0.441	0.4539	5008	,	,		20695	0.3571		0.4901	False		,,,				2504	0.3589				p.L932L		Atlas-SNP	.											.	FAT2	465	.	0			c.C2794T						PASS	.	G		1959,2447	553.0+/-378.7	422,1115,666	60	52	55		2794	3.6	1	5	dbSNP_119	55	4499,4101	591.6+/-392.9	1184,2131,985	no	coding-synonymous	FAT2	NM_001447.2		1606,3246,1651	AA,AG,GG		47.686,44.4621,49.654		932/4350	150945699	6458,6548	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			CCTTCAGCCTGTT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2794C>T	5.37:g.150945699G>A		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	259	123	0.474903	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			G|0.529;A|0.471	0.471	strong		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150945699	G	A	150945699	2	1	23	1	0	0	0	0	0	0	0	1	5690	962	34	2		2	FAT2	5	150945699	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	216	150945699	29969561	1478	17934										
FAT2	2196	hgsc.bcm.edu	37	chr5	150947719	150947719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggtggagtcaccaccacCgaagcaatggctgggggctt	14	11	2	0	rs3734060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:150947719C>T	ENST00000261800.5	-	1	786	c.774G>A	c.(772-774)tcG>tcA	p.S258S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	258					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCACCACCGAAGCAATGG	0.557																																					p.S258S		Atlas-SNP	.											FAT2,colon,carcinoma,0,2	FAT2	465	2	0			c.G774A						scavenged	.	C		1956,2450	549.1+/-377.7	420,1116,667	43	42	43		774	-10.1	0	5	dbSNP_107	43	4496,4104	585.4+/-391.9	1181,2134,985	no	coding-synonymous	FAT2	NM_001447.2		1601,3250,1652	TT,TC,CC		47.7209,44.394,49.6079		258/4350	150947719	6452,6554	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			CACCACCGAAGCA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.774G>A	5.37:g.150947719C>T		Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	147	68	0.462585	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			C|0.527;T|0.473	0.473	strong		0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150947719	C	T	150947719	2	4	23	1	0	0	0	0	0	0	0	1	5690	639	23	1		1	FAT2	5	150947719	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2020	150947719	29967541	1479	17935										
GLRA1	2741	hgsc.bcm.edu	37	chr5	151208500	151208500	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttgtgatgtctccgcttCctcctgaatcggagcagctc	9	14	1	2	rs75463357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:151208500C>T	ENST00000455880.2	-	8	1327	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	GLRA1_ENST00000274576.4_Silent_p.R347R|GLRA1_ENST00000545569.1_Silent_p.R264R			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	347					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTCCGCTTCCTCCTGAATC	0.468													C|||	42	0.00838658	0.0008	0.0159	5008	,	,		21283	0.0		0.0258	False		,,,				2504	0.0041				p.R347R		Atlas-SNP	.											.	GLRA1	61	.	0			c.G1041A						PASS	.	C	,	23,4383	30.8+/-60.4	0,23,2180	172	167	169		1041,1041	4.2	1	5	dbSNP_132	169	209,8391	89.2+/-151.4	5,199,4096	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	5,222,6276	TT,TC,CC		2.4302,0.522,1.7838	,	347/450,347/458	151208500	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	2741	exon8			CCGCTTCCTCCTG		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1041G>A	5.37:g.151208500C>T		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	71	35	0.492958	NM_000171	B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	CCDS54942.1																																																																																			C|0.983;T|0.017	0.017	strong		0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			T	151208500	C	T	151208500	2	4	23	1	0	0	0	0	0	0	0	1	6454	854	30	2		2	GLRA1	5	151208500	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	260781	151208500	29706760	1480	17936										
NMUR2	56923	hgsc.bcm.edu	37	chr5	151775064	151775064	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacagcagccagggattcaCtccactcctccacaaagctg	7	16	1	0	rs4958535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:151775064C>G	ENST00000255262.3	-	3	1058	c.893G>C	c.(892-894)aGt>aCt	p.S298T	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	298			S -> T (in dbSNP:rs4958535).		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)	p.S298I(1)		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)			CAGGGATTCACTCCACTCCTC	0.463													G|||	615	0.122804	0.0121	0.2954	5008	,	,		19189	0.0258		0.2038	False		,,,				2504	0.1667				p.S298T		Atlas-SNP	.											NMUR2,NS,carcinoma,0,1	NMUR2	111	1	1	Substitution - Missense(1)	lung(1)	c.G893C						scavenged	.	G	THR/SER	234,4172	805.3+/-415.8	7,220,1976	170	146	154		893	3	0.6	5	dbSNP_111	154	1556,7044	745.2+/-407.3	149,1258,2893	yes	missense	NMUR2	NM_020167.4	58	156,1478,4869	GG,GC,CC		18.093,5.3109,13.7629	benign	298/416	151775064	1790,11216	2203	4300	6503	SO:0001583	missense	56923	exon3			GATTCACTCCACT	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.893G>C	5.37:g.151775064C>G	ENSP00000255262:p.Ser298Thr	Somatic	275	2	0.00727273		WXS	Illumina HiSeq	Phase_I	235	116	0.493617	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	286	0.13095238095238096	6	0.012195121951219513	98	0.27071823204419887	21	0.03671328671328671	161	0.21240105540897097	G	4.243	0.044036	0.08196	0.053109	0.18093	ENSG00000132911	ENST00000255262	T	0.70399	-0.48	5.8	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.066370	0.64402	N	0.000008	T	0.00012	0.0000	N	0.00864	-1.135	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	9	0.02654	T	1	-6.2	5.7952	0.18383	0.0664:0.1169:0.5467:0.27	rs4958535;rs17448483;rs52795325;rs4958535	298	Q9GZQ4	NMUR2_HUMAN	T	298	ENSP00000255262:S298T	ENSP00000255262:S298T	S	-	2	0	NMUR2	151755257	1.000000	0.71417	0.589000	0.28718	0.921000	0.55340	3.998000	0.57024	0.060000	0.16281	-0.120000	0.15030	AGT	C|0.866;G|0.134	0.134	strong		0.463	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		G	151775064	C	G	151775064	3	3	23	1	0	0	0	0	1	0	0	0	10507	565	20	4	362	4	NMUR2	5	151775064	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	566564	151775064	29140196	1481	17937										
KIF4B	285643	hgsc.bcm.edu	37	chr5	154395458	154395458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagttgaaagaacgagaccGtaagaggcaatatgagctgc	12	7	0	5	rs17116710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:154395458G>A	ENST00000435029.4	+	1	2199	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	680	Interaction with PRC1. {ECO:0000250}.		R -> H (in dbSNP:rs17116710). {ECO:0000269|PubMed:16201836}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACGAGACCGTAAGAGGCAA	0.428													G|||	896	0.178914	0.115	0.1268	5008	,	,		22477	0.2073		0.1879	False		,,,				2504	0.2638				p.R680H		Atlas-SNP	.											.	KIF4B	307	.	0			c.G2039A						PASS	.	G	HIS/ARG	523,3883	233.6+/-246.7	30,463,1710	125	128	127		2039	2.3	1	5	dbSNP_123	127	1573,7027	294.0+/-301.7	146,1281,2873	yes	missense	KIF4B	NM_001099293.1	29	176,1744,4583	AA,AG,GG		18.2907,11.8702,16.1156	probably-damaging	680/1235	154395458	2096,10910	2203	4300	6503	SO:0001583	missense	285643	exon1			GAGACCGTAAGAG	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2039G>A	5.37:g.154395458G>A	ENSP00000387875:p.Arg680His	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	241	108	0.448133	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	361	0.1652930402930403	76	0.15447154471544716	47	0.1298342541436464	98	0.17132867132867133	140	0.18469656992084432	g	15.98	2.993690	0.54041	0.118702	0.182907	ENSG00000226650	ENST00000435029	T	0.22336	1.96	2.34	2.34	0.29019	.	.	.	.	.	T	0.00144	0.0004	M	0.86343	2.81	0.09310	P	0.999999688988	D	0.89917	1.0	D	0.75020	0.985	T	0.08432	-1.0722	8	0.72032	D	0.01	.	10.3246	0.43785	0.0:0.0:1.0:0.0	rs17116710;rs56483070;rs17116710	680	Q2VIQ3	KIF4B_HUMAN	H	680	ENSP00000387875:R680H	ENSP00000387875:R680H	R	+	2	0	KIF4B	154375651	1.000000	0.71417	0.966000	0.40874	0.758000	0.43043	5.842000	0.69417	1.330000	0.45394	0.563000	0.77884	CGT	G|0.829;A|0.171	0.171	strong		0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154395458	G	A	154395458	3	1	23	1	0	0	0	0	1	0	0	0	8304	1145	40	1	2041	1	KIF4B	5	154395458	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2620394	154395458	26519802	1482	17938										
ADAM19	8728	hgsc.bcm.edu	37	chr5	156918850	156918850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccagcacgcaccccatggCcattgcacttcttcccacag	6	19	1	0	rs2287749	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:156918850C>T	ENST00000517905.1	-	17	2023	c.1979G>A	c.(1978-1980)gGc>gAc	p.G660D	ADAM19_ENST00000257527.4_Missense_Mutation_p.G660D|ADAM19_ENST00000394020.1_Missense_Mutation_p.G662D|ADAM19_ENST00000430702.2_Missense_Mutation_p.G393D			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	660	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCCCATGGCCATTGCACTT	0.562													C|||	266	0.053115	0.0477	0.0548	5008	,	,		19065	0.004		0.1163	False		,,,				2504	0.045				p.G660D		Atlas-SNP	.											.	ADAM19	216	.	0			c.G1979A						PASS	.	C	ASP/GLY	278,4128	155.2+/-188.4	9,260,1934	130	99	109		1979	5.2	0.9	5	dbSNP_100	109	1093,7507	228.3+/-263.4	72,949,3279	yes	missense	ADAM19	NM_033274.3	94	81,1209,5213	TT,TC,CC		12.7093,6.3096,10.5413	probably-damaging	660/919	156918850	1371,11635	2203	4300	6503	SO:0001583	missense	8728	exon17			CCATGGCCATTGC	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1979G>A	5.37:g.156918850C>T	ENSP00000428654:p.Gly660Asp	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	136	62	0.455882	NM_033274	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		146|146	0.06684981684981685|0.06684981684981685	25|25	0.0508130081300813|0.0508130081300813	23|23	0.06353591160220995|0.06353591160220995	3|3	0.005244755244755245|0.005244755244755245	95|95	0.12532981530343007|0.12532981530343007	C|C	18.83|18.83	3.706748|3.706748	0.68615|0.68615	0.063096|0.063096	0.127093|0.127093	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|D;D;D;D	.|0.97232	.|-4.3;-4.3;-4.3;-4.3	5.23|5.23	5.23|5.23	0.72850|0.72850	.|Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.35008|0.35008	0.0917|0.0917	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;P	.|0.49696	.|0.91;0.855;0.927	.|P;B;P	.|0.49561	.|0.48;0.287;0.615	T|T	0.55457|0.55457	-0.8138|-0.8138	5|10	.|0.62326	.|D	.|0.03	.|.	13.1525|13.1525	0.59498|0.59498	0.0:0.9234:0.0:0.0766|0.0:0.9234:0.0:0.0766	rs2287749;rs17600513;rs56991851;rs2287749|rs2287749;rs17600513;rs56991851;rs2287749	.|660;660;393	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	T|D	231|393;660;662;660	.|ENSP00000414088:G393D;ENSP00000257527:G660D;ENSP00000377588:G662D;ENSP00000428654:G660D	.|ENSP00000257527:G660D	A|G	-|-	1|2	0|0	ADAM19|ADAM19	156851428|156851428	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.429000|0.429000	0.31625|0.31625	4.977000|4.977000	0.63792|0.63792	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	GCC|GGC	C|0.911;T|0.089	0.089	strong		0.562	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156918850	C	T	156918850	3	4	23	1	0	0	0	0	1	0	0	0	240	739	26	2	805	2	ADAM19	5	156918850	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2523392	156918850	23996410	1483	17939										
EBF1	1879	hgsc.bcm.edu	37	chr5	158139318	158139318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgtacccgtgtggtgataCgctgcttgagttgcgggtga	15	9	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:158139318C>T	ENST00000313708.6	-	14	1675	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V434I|EBF1_ENST00000517373.1_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	465	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGGTGATACGCTGCTTGAG	0.587			T	HMGA2	lipoma																																p.V465I		Atlas-SNP	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	EBF1,colon,carcinoma,+2,1	EBF1	110	1	0			c.G1393A						scavenged	.						95	73	81					5																	158139318		2203	4300	6503	SO:0001583	missense	1879	exon14			GTGATACGCTGCT	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1393G>A	5.37:g.158139318C>T	ENSP00000322898:p.Val465Ile	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	171	3	0.0175439	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217227	0.79352	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	T;T	0.47177	0.85;0.85	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.54323	1.7	0.80722	D	1	P;D;P;D	0.60160	0.879;0.987;0.896;0.969	B;P;B;P	0.62014	0.266;0.897;0.277;0.468	T	0.55598	-0.8116	10	0.22706	T	0.39	-5.7472	18.1731	0.89753	0.0:1.0:0.0:0.0	.	465;452;465;434	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	I	465;465;434	ENSP00000322898:V465I;ENSP00000370029:V434I	ENSP00000322898:V465I	V	-	1	0	EBF1	158071896	1.000000	0.71417	0.961000	0.40146	0.863000	0.49368	7.769000	0.85360	2.357000	0.79964	0.650000	0.86243	GTA	.	.	none		0.587	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		T	158139318	C	T	158139318	3	4	23	1	0	0	0	0	1	0	0	0	4880	536	19	1	394	1	EBF1	5	158139318	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1220468	158139318	22775942	1484	17940										
IL12B	3593	hgsc.bcm.edu	37	chr5	158750329	158750329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggataccaatccaattctaCgacataaactggaatgcaca	6	11	1	0	rs3213096	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:158750329C>T	ENST00000231228.2	-	3	552	c.97G>A	c.(97-99)Gta>Ata	p.V33I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	33	Ig-like C2-type.		V -> I (in dbSNP:rs3213096). {ECO:0000269|Ref.5}.		cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAATTCTACGACATAAACT	0.502													C|||	19	0.00379393	0.0	0.0043	5008	,	,		20539	0.0		0.0099	False		,,,				2504	0.0061				p.V33I		Atlas-SNP	.											.	IL12B	30	.	0			c.G97A						PASS	.	C	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	61	56	58		97	5.2	0.9	5	dbSNP_106	58	49,8551	31.2+/-83.2	0,49,4251	yes	missense	IL12B	NM_002187.2	29	0,56,6447	TT,TC,CC		0.5698,0.1589,0.4306	benign	33/329	158750329	56,12950	2203	4300	6503	SO:0001583	missense	3593	exon3			ATTCTACGACATA	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.97G>A	5.37:g.158750329C>T	ENSP00000231228:p.Val33Ile	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	63	29	0.460317	NM_002187		Missense_Mutation	SNP	ENST00000231228.2	37	CCDS4346.1	13	0.005952380952380952	0	0.0	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	9.248	1.040122	0.19669	0.001589	0.005698	ENSG00000113302	ENST00000231228	T	0.22743	1.94	6.02	5.16	0.70880	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054974	0.64402	D	0.000001	T	0.20210	0.0486	M	0.79475	2.455	0.45791	D	0.998676	B	0.09022	0.002	B	0.12156	0.007	T	0.03473	-1.1033	10	0.46703	T	0.11	-3.6912	11.4605	0.50208	0.0:0.9177:0.0:0.0823	rs3213096;rs17056679;rs17875310;rs52806839;rs56592501;rs3213096	33	P29460	IL12B_HUMAN	I	33	ENSP00000231228:V33I	ENSP00000231228:V33I	V	-	1	0	IL12B	158682907	0.822000	0.29219	0.877000	0.34402	0.087000	0.18053	1.240000	0.32731	1.568000	0.49683	-0.137000	0.14449	GTA	C|0.994;T|0.006	0.006	strong		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		T	158750329	C	T	158750329	3	4	23	1	0	0	0	0	1	0	0	0	7625	536	19	1	909	1	IL12B	5	158750329	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	611011	158750329	22164931	1485	17941										
HMMR	3161	hgsc.bcm.edu	37	chr5	162901156	162901156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattcttgaacaacaggaacGtgaaaagcttcaacaaaaag	7	7	2	2	rs2303078	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:162901156G>A	ENST00000358715.3	+	10	1031	c.995G>A	c.(994-996)cGt>cAt	p.R332H	HMMR_ENST00000393915.4_Missense_Mutation_p.R333H|HMMR_ENST00000432118.2_Missense_Mutation_p.R246H|HMMR_ENST00000353866.3_Missense_Mutation_p.R317H			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	332			R -> H (in dbSNP:rs2303078).	QER -> REH (in Ref. 1; AAC52049). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CAACAGGAACGTGAAAAGCTT	0.308													G|||	124	0.0247604	0.003	0.0303	5008	,	,		19680	0.0437		0.0398	False		,,,				2504	0.0153				p.R333H		Atlas-SNP	.											.	HMMR	64	.	0			c.G998A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	55,4351	53.6+/-89.4	0,55,2148	78	77	78		998,737,995,950	-1	0	5	dbSNP_100	78	435,8163	132.6+/-190.3	10,415,3874	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	29,29,29,29	10,470,6022	AA,AG,GG		5.0593,1.2483,3.7681	benign,benign,benign,benign	333/726,246/639,332/725,317/710	162901156	490,12514	2203	4299	6502	SO:0001583	missense	3161	exon10			AGGAACGTGAAAA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.995G>A	5.37:g.162901156G>A	ENSP00000351554:p.Arg332His	Somatic	321	1	0.00311526		WXS	Illumina HiSeq	Phase_I	314	156	0.496815	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	83	0.038003663003663	4	0.008130081300813009	11	0.03038674033149171	34	0.05944055944055944	34	0.044854881266490766	G	0.149	-1.093091	0.01858	0.012483	0.050593	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.77	-1.02	0.10135	.	0.810444	0.11726	N	0.535412	T	0.00210	0.0006	N	0.00707	-1.245	0.09310	N	1	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	0.46925	-0.9156	10	0.15499	T	0.54	3.3839	4.9511	0.14015	0.5844:0.0:0.2898:0.1258	rs2303078;rs52835383;rs2303078	246;333;317;332	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	H	218;317;317;333;309;246;332	ENSP00000400527:R218H;ENSP00000185942:R317H;ENSP00000377492:R333H;ENSP00000402673:R246H;ENSP00000351554:R332H	ENSP00000185942:R317H	R	+	2	0	HMMR	162833734	0.880000	0.30214	0.001000	0.08648	0.018000	0.09664	0.462000	0.21956	-0.301000	0.08882	-1.093000	0.02169	CGT	G|0.961;A|0.039	0.039	strong		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		A	162901156	G	A	162901156	3	1	23	1	0	0	0	0	1	0	0	0	7242	1145	40	1	1036	1	HMMR	5	162901156	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4150827	162901156	18014104	1486	17942										
ODZ2	57451	hgsc.bcm.edu	37	chr5	167645888	167645888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accctcaccgtgggcaccaaTggaggcctcaaagtcgtgtc	11	14	2	0	rs1363560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:167645888T>C	ENST00000518659.1	+	23	5031	c.4992T>C	c.(4990-4992)aaT>aaC	p.N1664N	TENM2_ENST00000520394.1_Silent_p.N1425N|TENM2_ENST00000403607.2_Silent_p.N1488N|TENM2_ENST00000545108.1_Silent_p.N1663N|TENM2_ENST00000519204.1_Silent_p.N1543N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1664					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGGCACCAATGGAGGCCTCA	0.557													.|||	2052	0.409744	0.6422	0.2205	5008	,	,		20614	0.5942		0.2207	False		,,,				2504	0.2342				p.N1655N		Atlas-SNP	.											.	.	.	.	0			c.T4965C						PASS	.	T		2411,1783		709,993,395	147	153	151		4965	-9.2	0	5	dbSNP_88	151	1905,6525		229,1447,2539	no	coding-synonymous	ODZ2	NM_001122679.1		938,2440,2934	CC,CT,TT		22.5979,42.5131,34.1888		1655/2766	167645888	4316,8308	2097	4215	6312	SO:0001819	synonymous_variant	57451	exon23			CACCAATGGAGGC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4992T>C	5.37:g.167645888T>C		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	257	127	0.494163	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				T|0.589;C|0.411	0.411	strong		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		C	167645888	T	C	167645888	2	2	23	1	0	0	0	0	0	0	0	1	10835	1461	51	2		2	ODZ2	5	167645888	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4744732	167645888	13269372	1487	17943										
WWC1	23286	hgsc.bcm.edu	37	chr5	167858371	167858371	+	Missense_Mutation	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggtgttctgggtatccatGtcctatccagcccttcacca					rs386694705|rs3822660	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:167858371G>T	ENST00000265293.4	+	15	2704	c.2202G>T	c.(2200-2202)atG>atT	p.M734I	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.M734I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	734	C2.		M -> I (polymorphism; associated with Ala-735; affects KIBRA lipid-binding specificity showing stronger interactions with PI(4)P and PI(5)P; dbSNP:rs3822660). {ECO:0000269|PubMed:23778582}.		cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGTATCCATGTCCTATCCAG	0.562													G|||	805	0.160743	0.2859	0.0663	5008	,	,		16462	0.2312		0.0736	False		,,,				2504	0.0757				p.M734I		Atlas-SNP	.											.	WWC1	98	.	0			c.G2202T						PASS	.						77	70	73					5																	167858371		2203	4300	6503	SO:0001583	missense	23286	exon15			ATCCATGTCCTAT	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2202G>T	5.37:g.167858371G>T	ENSP00000265293:p.Met734Ile	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	67	29	0.432836	NM_015238	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	283|283	0.1295787545787546|0.1295787545787546	108|108	0.21951219512195122|0.21951219512195122	26|26	0.0718232044198895|0.0718232044198895	104|104	0.18181818181818182|0.18181818181818182	45|45	0.059366754617414245|0.059366754617414245	G|G	3.153|3.153	-0.173892|-0.173892	0.06421|0.06421	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	T;T;T|.	0.35236|.	1.32;1.32;1.32|.	5.24|5.24	1.22|1.22	0.21188|0.21188	C2 calcium/lipid-binding domain, CaLB (1);|.	0.372565|.	0.29668|.	N|.	0.011510|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00088|0.00088	-2.19|-2.19	0.41687|0.41687	P|P	0.010678999999999994|0.010678999999999994	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|T	0.40887|0.40887	-0.9539|-0.9539	9|4	0.02654|.	T|.	1|.	.|.	1.9532|1.9532	0.03371|0.03371	0.1628:0.3846:0.2462:0.2064|0.1628:0.3846:0.2462:0.2064	rs3822660;rs52813396;rs58443717;rs3822660|rs3822660;rs52813396;rs58443717;rs3822660	734;640;640;734|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	I|F	734;734;60|696;511	ENSP00000265293:M734I;ENSP00000427772:M734I;ENSP00000428084:M60I|.	ENSP00000265293:M734I|.	M|V	+|+	3|1	0|0	WWC1|WWC1	167790949|167790949	0.890000|0.890000	0.30428|0.30428	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	-0.057000|-0.057000	0.11768|0.11768	0.200000|0.200000	0.20447|0.20447	0.655000|0.655000	0.94253|0.94253	ATG|GTC	G|0.927;T|0.073	0.073	strong		0.562	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		T	167858371	G	T	167858371	3	4	23	1	0	0	0	0	1	0	0	0	17408	1377	48	4	2260	4	WWC1	5	167858371	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	212483	167858371	13056889	1488	17944	373	2								
WWC1	23286	hgsc.bcm.edu	37	chr5	167858372	167858372	+	Missense_Mutation	SNP	T	T	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgttctgggtatccatgTcctatccagcccttcaccag					rs386694705|rs3822659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:167858372T>G	ENST00000265293.4	+	15	2705	c.2203T>G	c.(2203-2205)Tcc>Gcc	p.S735A	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.S735A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	735	C2.		S -> A (polymorphism; associated with Ile-734; affects KIBRA lipid-binding specificity showing stronger interactions with PI(4)P and PI(5)P; dbSNP:rs3822659). {ECO:0000269|PubMed:23778582}.		cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATCCATGTCCTATCCAGC	0.557													T|||	805	0.160743	0.2859	0.0663	5008	,	,		16464	0.2312		0.0736	False		,,,				2504	0.0757				p.S735A		Atlas-SNP	.											.	WWC1	98	.	0			c.T2203G						PASS	.																																			SO:0001583	missense	23286	exon15			TCCATGTCCTATC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2203T>G	5.37:g.167858372T>G	ENSP00000265293:p.Ser735Ala	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_015238	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	279|279	0.12774725274725274|0.12774725274725274	105|105	0.21341463414634146|0.21341463414634146	26|26	0.0718232044198895|0.0718232044198895	104|104	0.18181818181818182|0.18181818181818182	44|44	0.05804749340369393|0.05804749340369393	T|T	11.22|11.22	1.573212|1.573212	0.28092|0.28092	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	T;T;T|.	0.26518|.	1.73;1.73;1.73|.	5.24|5.24	5.24|5.24	0.73138|0.73138	C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.00073|0.00073	0.0002|0.0002	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	P|P	0.99999281213|0.99999281213	B;B;B;B|.	0.26195|.	0.095;0.144;0.002;0.077|.	B;B;B;B|.	0.34418|.	0.099;0.182;0.022;0.092|.	T|T	0.11179|0.11179	-1.0598|-1.0598	9|4	0.08381|.	T|.	0.77|.	.|.	10.3846|10.3846	0.44132|0.44132	0.0:0.076:0.0:0.924|0.0:0.076:0.0:0.924	rs3822659;rs60429120;rs3822659|rs3822659;rs60429120;rs3822659	735;641;641;735|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	A|G	735;735;61|696;511	ENSP00000265293:S735A;ENSP00000427772:S735A;ENSP00000428084:S61A|.	ENSP00000265293:S735A|.	S|V	+|+	1|2	0|0	WWC1|WWC1	167790950|167790950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.456000|4.456000	0.60081|0.60081	1.977000|1.977000	0.57605|0.57605	0.533000|0.533000	0.62120|0.62120	TCC|GTC	T|0.868;G|0.132	0.132	strong		0.557	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		G	167858372	T	G	167858372	3	3	23	1	0	0	0	0	1	0	0	0	17408	1667	58	5	2261	5	WWC1	5	167858372	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1	167858372	13056888	1489	17945	373	2								
DOCK2	1794	hgsc.bcm.edu	37	chr5	169127097	169127097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacacctggtggacaggacCaccgtggtggccaggaagct	14	13	0	0	rs2112703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:169127097C>A	ENST00000256935.8	+	13	1292	c.1212C>A	c.(1210-1212)acC>acA	p.T404T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	404					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGACAGGACCACCGTGGTGG	0.567													C|||	609	0.121605	0.0363	0.0893	5008	,	,		17531	0.122		0.2048	False		,,,				2504	0.1738				p.T404T		Atlas-SNP	.											.	DOCK2	389	.	0			c.C1212A						PASS	.	C		323,4083	171.9+/-202.1	18,287,1898	160	146	151		1212	1.6	1	5	dbSNP_96	151	1783,6817	322.8+/-315.7	197,1389,2714	no	coding-synonymous	DOCK2	NM_004946.2		215,1676,4612	AA,AC,CC		20.7326,7.3309,16.1925		404/1831	169127097	2106,10900	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon13			CAGGACCACCGTG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1212C>A	5.37:g.169127097C>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	151	86	0.569536	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			C|0.852;A|0.148	0.148	strong		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169127097	C	A	169127097	2	1	23	1	0	0	0	0	0	0	0	1	4687	581	21	4		4	DOCK2	5	169127097	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1268725	169127097	11788163	1490	17946										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169174484	169174484	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaatctgatgaaaagtcaAtacaaaactaccatcctttt	3	9	2	2	rs13155521	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:169174484A>G	ENST00000256935.8	+	23	2432	c.2352A>G	c.(2350-2352)caA>caG	p.Q784Q	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.Q276Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	784					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAAAGTCAATACAAAACTA	0.363													A|||	90	0.0179712	0.0038	0.0245	5008	,	,		19878	0.0		0.0616	False		,,,				2504	0.0061				p.Q784Q		Atlas-SNP	.											.	DOCK2	389	.	0			c.A2352G						PASS	.	A		65,4341	61.1+/-98.1	0,65,2138	92	86	88		2352	0	1	5	dbSNP_121	88	603,7997	159.1+/-212.4	25,553,3722	no	coding-synonymous	DOCK2	NM_004946.2		25,618,5860	GG,GA,AA		7.0116,1.4753,5.1361		784/1831	169174484	668,12338	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon23			AAGTCAATACAAA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2352A>G	5.37:g.169174484A>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	85	33	0.388235	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			A|0.957;G|0.043	0.043	strong		0.363	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169174484	A	G	169174484	2	3	23	1	0	0	0	0	0	0	0	1	4687	98	4	2		2	DOCK2	5	169174484	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47387	169174484	11740776	1491	17947										
DOCK2	1794	hgsc.bcm.edu	37	chr5	169435713	169435713	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatggggacatgagacggctAattggcttctccatccgtga	12	9	1	2	rs2287727	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:169435713A>C	ENST00000256935.8	+	32	3275	c.3195A>C	c.(3193-3195)ctA>ctC	p.L1065L	DOCK2_ENST00000540750.1_Silent_p.L126L|DOCK2_ENST00000520908.1_Silent_p.L557L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1065	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGACGGCTAATTGGCTTCT	0.488													A|||	1217	0.243011	0.0257	0.3026	5008	,	,		19957	0.3909		0.2783	False		,,,				2504	0.3057				p.L1065L		Atlas-SNP	.											.	DOCK2	389	.	0			c.A3195C						PASS	.	A		338,4068	176.6+/-205.7	11,316,1876	232	201	211		3195	-4.4	0.7	5	dbSNP_100	211	2533,6067	414.1+/-351.3	375,1783,2142	no	coding-synonymous	DOCK2	NM_004946.2		386,2099,4018	CC,CA,AA		29.4535,7.6714,22.0744		1065/1831	169435713	2871,10135	2203	4300	6503	SO:0001819	synonymous_variant	1794	exon32			ACGGCTAATTGGC	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3195A>C	5.37:g.169435713A>C		Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	283	143	0.5053	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																			A|0.770;C|0.230	0.230	strong		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169435713	A	C	169435713	2	2	23	1	0	0	0	0	0	0	0	1	4687	349	13	5		5	DOCK2	5	169435713	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	261229	169435713	11479547	1492	17948										
LCP2	3937	hgsc.bcm.edu	37	chr5	169685163	169685163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggctggggcaaaggtctCtgatgcactgtgcagaagta	15	8	1	2	rs315717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:169685163C>T	ENST00000046794.5	-	16	1593	c.978G>A	c.(976-978)caG>caA	p.Q326Q	LCP2_ENST00000521416.1_Silent_p.Q121Q	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	326					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GCAAAGGTCTCTGATGCACTG	0.493													T|||	2781	0.555312	0.6762	0.5865	5008	,	,		19183	0.5675		0.4712	False		,,,				2504	0.4438				p.Q326Q		Atlas-SNP	.											.	LCP2	133	.	0			c.G978A						PASS	.	T		2494,1374		820,854,260	166	164	165		978	-11.4	0	5	dbSNP_79	165	4023,4259		962,2099,1080	yes	coding-synonymous	LCP2	NM_005565.3		1782,2953,1340	TT,TC,CC		48.5752,35.5222,46.3621		326/534	169685163	6517,5633	1934	4141	6075	SO:0001819	synonymous_variant	3937	exon16			AGGTCTCTGATGC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.978G>A	5.37:g.169685163C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	137	134	0.978102	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																			C|0.429;T|0.571	0.571	strong		0.493	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169685163	C	T	169685163	2	4	23	1	0	0	0	0	0	0	0	1	8692	912	32	2		2	LCP2	5	169685163	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	249450	169685163	11230097	1493	17949										
KCNMB1	3779	hgsc.bcm.edu	37	chr5	169810796	169810796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccttcttgcccttcagctCctcctggtccctgatgttgg	8	16	2	1	rs11739136	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:169810796C>T	ENST00000274629.4	-	3	635	c.193G>A	c.(193-195)Gag>Aag	p.E65K	KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.E65K|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	65			E -> K (has a protective effect against diastolic hypertension; dbSNP:rs11739136). {ECO:0000269|PubMed:15057310}.		blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CCCTTCAGCTCCTCCTGGTCC	0.582													C|||	474	0.0946486	0.053	0.1412	5008	,	,		20766	0.1369		0.0964	False		,,,				2504	0.0726				p.S65T		Atlas-SNP	.											.	KCNMB1	38	.	0			c.T193A	GRCh37	CM041786	KCNMB1	M	rs11739136	PASS	.	C	,LYS/GLU	266,4140	149.5+/-183.7	12,242,1949	128	100	109	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,193	3.6	1	5	dbSNP_120	109	870,7730	197.5+/-242.1	50,770,3480	yes	intron,missense	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,56	62,1012,5429	TT,TC,CC		10.1163,6.0372,8.7344	,benign	,65/192	169810796	1136,11870	2203	4300	6503	SO:0001583	missense	3779	exon3			TCAGCTCCTCCTG	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.193G>A	5.37:g.169810796C>T	ENSP00000274629:p.Glu65Lys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	113	56	0.495575	NM_004137	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	212	0.09706959706959707	20	0.04065040650406504	51	0.1408839779005525	68	0.11888111888111888	73	0.09630606860158311	C	15.48	2.845846	0.51164	0.060372	0.101163	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.10763	2.84;2.84	5.7	3.59	0.41128	.	0.102225	0.64402	D	0.000003	T	0.00073	0.0002	L	0.27053	0.805	0.34848	P	0.25866999999999996	B;B	0.21071	0.037;0.051	B;B	0.19946	0.027;0.012	T	0.35624	-0.9781	8	.	.	.	.	8.0511	0.30579	0.0:0.7393:0.1654:0.0952	rs11739136;rs52831846;rs60174556;rs11739136	65;65	Q16558-2;Q16558	.;KCMB1_HUMAN	K	65	ENSP00000274629:E65K;ENSP00000427940:E65K	.	E	-	1	0	KCNMB1	169743374	0.960000	0.32886	0.999000	0.59377	0.964000	0.63967	0.608000	0.24223	1.403000	0.46800	0.655000	0.94253	GAG	C|0.910;T|0.090	0.090	strong		0.582	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			T	169810796	C	T	169810796	3	4	23	1	0	0	0	0	1	0	0	0	8074	864	30	2	390	2	KCNMB1	5	169810796	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	125633	169810796	11104464	1494	17950										
RANBP17	64901	hgsc.bcm.edu	37	chr5	170626735	170626735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagttgcttttgaaacagtAttacaaatattcaacaacaa	4	7	1	1	rs35724654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:170626735A>G	ENST00000523189.1	+	19	2264	c.2100A>G	c.(2098-2100)gtA>gtG	p.V700V	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	700					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGAAACAGTATTACAAATAT	0.333			T	TRD@	ALL								A|||	323	0.0644968	0.0098	0.0634	5008	,	,		18777	0.001		0.173	False		,,,				2504	0.093				p.V700V		Atlas-SNP	.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17	108	.	0			c.A2100G						PASS	.	A		141,4265	98.9+/-137.6	4,133,2066	122	121	121		2100	-3.7	0.9	5	dbSNP_126	121	1398,7202	269.3+/-288.3	138,1122,3040	no	coding-synonymous	RANBP17	NM_022897.3		142,1255,5106	GG,GA,AA		16.2558,3.2002,11.833		700/1089	170626735	1539,11467	2203	4300	6503	SO:0001819	synonymous_variant	64901	exon19			AACAGTATTACAA	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2100A>G	5.37:g.170626735A>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	73	35	0.479452	NM_022897	Q8IU74	Silent	SNP	ENST00000523189.1	37	CCDS34287.1																																																																																			A|0.890;G|0.110	0.110	strong		0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		G	170626735	A	G	170626735	2	3	23	1	0	0	0	0	0	0	0	1	13027	436	16	2		2	RANBP17	5	170626735	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	815939	170626735	10288525	1495	17951										
SH3PXD2B	285590	hgsc.bcm.edu	37	chr5	171849471	171849471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaatggcctcggtggagccGctggaccacgtgacccggat	14	12	0	1	rs17074773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:171849471G>A	ENST00000311601.5	-	2	275	c.105C>T	c.(103-105)agC>agT	p.S35S	SH3PXD2B_ENST00000519643.1_Silent_p.S35S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	35	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)			CGGTGGAGCCGCTGGACCACG	0.552													G|||	1876	0.374601	0.2171	0.4179	5008	,	,		18002	0.6617		0.2783	False		,,,				2504	0.3599				p.S35S		Atlas-SNP	.											.	SH3PXD2B	91	.	0			c.C105T						PASS	.	G		1042,3364	376.3+/-322.0	129,784,1290	45	44	44		105	-8.7	0.6	5	dbSNP_123	44	2354,6246	386.0+/-341.7	332,1690,2278	no	coding-synonymous	SH3PXD2B	NM_001017995.2		461,2474,3568	AA,AG,GG		27.3721,23.6496,26.111		35/912	171849471	3396,9610	2203	4300	6503	SO:0001819	synonymous_variant	285590	exon2			GGAGCCGCTGGAC	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.105C>T	5.37:g.171849471G>A		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_001017995	B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	CCDS34291.1																																																																																			G|0.692;A|0.308	0.308	strong		0.552	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		A	171849471	G	A	171849471	2	1	23	1	0	0	0	0	0	0	0	1	14257	1078	38	1		1	SH3PXD2B	5	171849471	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1222736	171849471	9065789	1496	17952										
HMP19	51617	hgsc.bcm.edu	37	chr5	173491300	173491300	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagggaagttccgggtgccGaaaatcgctgaatttacggt	13	7	0	1	rs17076802|rs34300847	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:173491300G>A	ENST00000303177.3	+	3	457	c.195G>A	c.(193-195)ccG>ccA	p.P65P	NSG2_ENST00000521585.1_Silent_p.P65P|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		65					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCCGGGTGCCGAAAATCGCTG	0.483													G|||	394	0.0786741	0.0038	0.0447	5008	,	,		16822	0.0873		0.1083	False		,,,				2504	0.1646				p.P65P		Atlas-SNP	.											.	HMP19	21	.	0			c.G195A						PASS	.	G		86,4320	73.1+/-111.1	1,84,2118	80	76	77		195	1.8	1	5	dbSNP_123	77	817,7783	189.0+/-235.8	48,721,3531	no	coding-synonymous	HMP19	NM_015980.3		49,805,5649	AA,AG,GG		9.5,1.9519,6.9429		65/172	173491300	903,12103	2203	4300	6503	SO:0001819	synonymous_variant	0	exon3			GGTGCCGAAAATC																												ENST00000303177.3:c.195G>A	5.37:g.173491300G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	83	44	0.53012	NM_015980	B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	CCDS4391.1																																																																																			G|0.924;A|0.075	0.075	strong		0.483	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			A	173491300	G	A	173491300	2	1	23	1	0	0	0	0	0	0	0	1	7245	1045	37	1		1	HMP19	5	173491300	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1641829	173491300	7423960	1497	17953										
SFXN1	94081	hgsc.bcm.edu	37	chr5	174936038	174936038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttgttgttttcttaggcaAggaattgttcctcctggtct	9	7	2	0	rs35420613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:174936038A>G	ENST00000321442.5	+	3	422	c.168A>G	c.(166-168)caA>caG	p.Q56Q	SFXN1_ENST00000502393.1_Silent_p.Q56Q	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	56					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCTTAGGCAAGGAATTGTTC	0.373													A|||	257	0.0513179	0.0045	0.0994	5008	,	,		20639	0.0228		0.0706	False		,,,				2504	0.09				p.Q56Q		Atlas-SNP	.											.	SFXN1	23	.	0			c.A168G						PASS	.	A		55,4351	48.9+/-83.8	0,55,2148	118	117	118		168	5.2	1	5	dbSNP_126	118	634,7966	154.6+/-208.8	34,566,3700	no	coding-synonymous	SFXN1	NM_022754.5		34,621,5848	GG,GA,AA		7.3721,1.2483,5.2976		56/323	174936038	689,12317	2203	4300	6503	SO:0001819	synonymous_variant	94081	exon3			TAGGCAAGGAATT	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.168A>G	5.37:g.174936038A>G		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	151	67	0.443709	NM_022754	B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	CCDS4394.1																																																																																			A|0.947;G|0.053	0.053	strong		0.373	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		G	174936038	A	G	174936038	2	3	23	1	0	0	0	0	0	0	0	1	14194	69	3	3		3	SFXN1	5	174936038	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1444738	174936038	5979222	1498	17954										
CDHR2	54825	hgsc.bcm.edu	37	chr5	176011889	176011889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggctggttctcagtggcGgccaacggctctgtgtacat	15	10	2	0	rs4868660	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176011889G>A	ENST00000510636.1	+	19	2881	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	CDHR2_ENST00000261944.5_Silent_p.A869A|CDHR2_ENST00000506348.1_Silent_p.A869A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	869	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCAGTGGCGGCCAACGGCT	0.607													G|||	1023	0.204273	0.1021	0.402	5008	,	,		19243	0.0278		0.4145	False		,,,				2504	0.1677				p.A869A		Atlas-SNP	.											.	CDHR2	152	.	0			c.G2607A						PASS	.	G	,	707,3699	291.3+/-281.4	53,601,1549	64	53	57		2607,2607	-1.2	0	5	dbSNP_111	57	3675,4925	519.3+/-379.4	779,2117,1404	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	832,2718,2953	AA,AG,GG		42.7326,16.0463,33.6921	,	869/1311,869/1311	176011889	4382,8624	2203	4300	6503	SO:0001819	synonymous_variant	54825	exon19			AGTGGCGGCCAAC	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2607G>A	5.37:g.176011889G>A		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	237	110	0.464135	NM_017675	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			G|0.727;A|0.273	0.273	strong		0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176011889	G	A	176011889	2	1	23	1	0	0	0	0	0	0	0	1	3119	1103	39	1		1	CDHR2	5	176011889	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1075851	176011889	4903371	1499	17955										
HK3	3101	hgsc.bcm.edu	37	chr5	176314459	176314459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggtccttaccgctgccGtcaggggtggcccggacgaa	15	14	1	0	rs2278492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176314459G>A	ENST00000292432.5	-	11	1684	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	531	Catalytic.|Hexokinase type-1 2.			PD -> LT (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCGCTGCCGTCAGGGGTGG	0.672													A|||	1669	0.333267	0.1793	0.4452	5008	,	,		17657	0.3948		0.327	False		,,,				2504	0.4049				p.D531D		Atlas-SNP	.											.	HK3	210	.	0			c.C1593T						PASS	.	A		974,3432	716.2+/-408.6	109,756,1338	32	35	34		1593	-1.5	0.6	5	dbSNP_100	34	2941,5659	657.9+/-401.5	511,1919,1870	no	coding-synonymous	HK3	NM_002115.2		620,2675,3208	AA,AG,GG		34.1977,22.1062,30.1015		531/924	176314459	3915,9091	2203	4300	6503	SO:0001819	synonymous_variant	3101	exon11			GCTGCCGTCAGGG		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1593C>T	5.37:g.176314459G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	96	53	0.552083	NM_002115	Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																			G|0.694;A|0.306	0.306	strong		0.672	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			A	176314459	G	A	176314459	2	1	23	1	0	0	0	0	0	0	0	1	7192	1136	40	1		1	HK3	5	176314459	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	302570	176314459	4600801	1500	17956										
HK3	3101	hgsc.bcm.edu	37	chr5	176314639	176314639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagccagacgggcagccacGgcagtcaccatcgccactcc	11	18	1	1	rs6875296	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176314639G>A	ENST00000292432.5	-	11	1504	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	471	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGCCACGGCAGTCACCA	0.652													G|||	1518	0.303115	0.0756	0.4294	5008	,	,		15488	0.3929		0.326	False		,,,				2504	0.4049				p.A471A		Atlas-SNP	.											HK3_ENST00000292432,NS,carcinoma,0,2	HK3	210	2	0			c.C1413T						PASS	.	G		559,3847	239.9+/-250.9	34,491,1678	35	33	34		1413	-8.9	0	5	dbSNP_116	34	2929,5669	439.3+/-359.2	506,1917,1876	no	coding-synonymous	HK3	NM_002115.2		540,2408,3554	AA,AG,GG		34.0661,12.6872,26.8225		471/924	176314639	3488,9516	2203	4299	6502	SO:0001819	synonymous_variant	3101	exon11			AGCCACGGCAGTC		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1413C>T	5.37:g.176314639G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	141	83	0.588652	NM_002115	Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																			G|0.724;A|0.276	0.276	strong		0.652	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			A	176314639	G	A	176314639	2	1	23	1	0	0	0	0	0	0	0	1	7192	1103	39	1		1	HK3	5	176314639	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	180	176314639	4600621	1501	17957										
DBN1	1627	hgsc.bcm.edu	37	chr5	176893942	176893942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgatctgctgctcccgctccCggtagcgccgctcgcgctcc	11	20	1	0	rs146597348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176893942C>T	ENST00000309007.5	-	7	896	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	DBN1_ENST00000393565.1_Missense_Mutation_p.R226Q|DBN1_ENST00000292385.5_Missense_Mutation_p.R228Q	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	226					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.R226Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCGCTCCCGGTAGCGCCG	0.701													C|||	14	0.00279553	0.0	0.0043	5008	,	,		13021	0.0		0.008	False		,,,				2504	0.0031				p.R228Q		Atlas-SNP	.											DBN1,NS,lymphoid_neoplasm,0,1	DBN1	122	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G683A						PASS	.	C	GLN/ARG,GLN/ARG	16,4390	23.3+/-48.9	0,16,2187	49	52	51		677,683	5	1	5	dbSNP_134	51	104,8496	56.0+/-117.1	0,104,4196	no	missense,missense	DBN1	NM_004395.3,NM_080881.2	43,43	0,120,6383	TT,TC,CC		1.2093,0.3631,0.9227	possibly-damaging,possibly-damaging	226/650,228/652	176893942	120,12886	2203	4300	6503	SO:0001583	missense	1627	exon8			CGCTCCCGGTAGC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.677G>A	5.37:g.176893942C>T	ENSP00000308532:p.Arg226Gln	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	21	11	0.52381	NM_080881	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	C	17.79	3.475458	0.63737	0.003631	0.012093	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41065	1.01;1.01;1.53	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	N	0.13043	0.29	0.80722	D	1	D;P;P;P	0.61697	0.99;0.865;0.835;0.897	P;B;B;B	0.46718	0.525;0.13;0.06;0.127	T	0.01504	-1.1338	10	0.19147	T	0.46	-14.8828	11.5492	0.50711	0.0:0.9178:0.0:0.0822	.	176;226;226;228	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	Q	226;228;226;225	ENSP00000308532:R226Q;ENSP00000292385:R228Q;ENSP00000377195:R226Q	ENSP00000292385:R228Q	R	-	2	0	DBN1	176826548	0.999000	0.42202	0.990000	0.47175	0.999000	0.98932	4.101000	0.57769	2.586000	0.87340	0.655000	0.94253	CGG	C|0.990;T|0.010	0.010	strong		0.701	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		T	176893942	C	T	176893942	3	4	23	1	0	0	0	0	1	0	0	0	4252	652	23	1	1304	1	DBN1	5	176893942	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	579303	176893942	4021318	1502	17958										
PDLIM7	9260	hgsc.bcm.edu	37	chr5	176916516	176916516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagcggcgtgggcgtggcCggctggctgtgccgggtcag	21	11	1	0	rs335462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176916516C>T	ENST00000355841.2	-	9	813	c.747G>A	c.(745-747)ccG>ccA	p.P249P	PDLIM7_ENST00000359895.2_Silent_p.P215P|PDLIM7_ENST00000356618.4_Missense_Mutation_p.G229S|PDLIM7_ENST00000393551.1_Missense_Mutation_p.G229S	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	249					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCGTGGCCGGCTGGCTGT	0.701													C|||	2191	0.4375	0.3918	0.3761	5008	,	,		15052	0.3889		0.5278	False		,,,				2504	0.5				p.P249P		Atlas-SNP	.											PDLIM7,NS,carcinoma,0,1	PDLIM7	32	1	0			c.G747A						scavenged	.	C	,	1675,2719		314,1047,836	20	25	23		747,645	-10.5	0.7	5	dbSNP_79	23	4502,4088		1196,2110,989	no	coding-synonymous,coding-synonymous	PDLIM7	NM_005451.3,NM_203352.1	,	1510,3157,1825	TT,TC,CC		47.5902,38.1202,47.5739	,	249/458,215/424	176916516	6177,6807	2197	4295	6492	SO:0001819	synonymous_variant	9260	exon9			CGTGGCCGGCTGG	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.747G>A	5.37:g.176916516C>T		Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	54	37	0.685185	NM_005451	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	CCDS4422.1	964	0.4413919413919414	197	0.40040650406504064	151	0.4171270718232044	200	0.34965034965034963	416	0.5488126649076517	C	18.15	3.560441	0.65538	0.381202	0.524098	ENSG00000196923	ENST00000356618;ENST00000393551	T;T	0.14893	2.47;2.47	5.23	-10.5	0.00291	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.45150	P	0.0018319999999999448	B	0.10296	0.003	B	0.14023	0.01	T	0.43605	-0.9381	7	0.26408	T	0.33	.	3.1136	0.06367	0.0856:0.2287:0.2775:0.4081	rs335462;rs337408;rs1625748;rs3175031;rs335462	229	Q9NR12-4	.	S	229	ENSP00000349030:G229S;ENSP00000377182:G229S	ENSP00000349030:G229S	G	-	1	0	PDLIM7	176849122	0.000000	0.05858	0.695000	0.30226	0.984000	0.73092	-5.689000	0.00104	-1.901000	0.01096	-0.378000	0.06908	GGC	C|0.555;T|0.445	0.445	strong		0.701	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		T	176916516	C	T	176916516	2	4	23	1	0	0	0	0	0	0	0	1	11684	639	23	1		1	PDLIM7	5	176916516	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22574	176916516	3998744	1503	17959										
FAM193B	54540	hgsc.bcm.edu	37	chr5	176963389	176963389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagggagtggctgagagctcGggggtgggaggagaggccca	22	6	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:176963389G>A	ENST00000514747.1	-	4	1094	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.P236L	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	349	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CTGAGAGCTCGGGGGTGGGAG	0.582																																					p.P349L		Atlas-SNP	.											FLJ10404,NS,carcinoma,0,3	FAM193B	28	3	0			c.C1046T						scavenged	.						15	16	16					5																	176963389		1997	4141	6138	SO:0001583	missense	54540	exon4			GAGCTCGGGGGTG		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1046C>T	5.37:g.176963389G>A	ENSP00000422131:p.Pro349Leu	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	2	0.0240964	NM_001190946	E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859218	0.32884	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.72282	-0.64;-0.64	5.63	4.76	0.60689	.	0.412228	0.20038	U	0.100577	T	0.63129	0.2485	L	0.43152	1.355	0.46167	D	0.998902	B;B	0.21309	0.054;0.054	B;B	0.17098	0.017;0.007	T	0.59364	-0.7468	10	0.41790	T	0.15	-4.0854	12.8445	0.57821	0.0752:0.0:0.9248:0.0	.	349;236	E9PET5;E9PEZ8	.;.	L	349;236	ENSP00000422131:P349L;ENSP00000410098:P236L	ENSP00000410098:P236L	P	-	2	0	FAM193B	176895995	0.883000	0.30277	0.109000	0.21407	0.974000	0.67602	4.457000	0.60088	1.378000	0.46305	0.563000	0.77884	CCG	.	.	none		0.582	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		A	176963389	G	A	176963389	3	1	23	1	0	0	0	0	1	0	0	0	5525	1116	39	1	1686	1	FAM193B	5	176963389	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46873	176963389	3951871	1504	17960										
B4GALT7	11285	hgsc.bcm.edu	37	chr5	177035964	177035964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagacatttcgccacctgcaTgacccagcctggcggaagag	11	13	0	3	rs729459	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:177035964T>C	ENST00000029410.5	+	5	888	c.777T>C	c.(775-777)caT>caC	p.H259H	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	259	UDP-alpha-D-galactose binding.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACCTGCATGACCCAGCCT	0.602													t|||	3030	0.605032	0.5893	0.6153	5008	,	,		19107	0.7937		0.5417	False		,,,				2504	0.4898				p.H259H		Atlas-SNP	.											.	B4GALT7	21	.	0			c.T777C						PASS	.	C		2712,1694	651.5+/-399.2	830,1052,321	69	66	67		777	-5.6	0.9	5	dbSNP_86	67	4764,3836	610.1+/-395.6	1323,2118,859	no	coding-synonymous	B4GALT7	NM_007255.2		2153,3170,1180	CC,CT,TT		44.6047,38.4476,42.5188		259/328	177035964	7476,5530	2203	4300	6503	SO:0001819	synonymous_variant	11285	exon5			CCTGCATGACCCA	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.777T>C	5.37:g.177035964T>C		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	27	14	0.518519	NM_007255	B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	CCDS4429.1																																																																																			T|0.401;C|0.599	0.599	strong		0.602	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		C	177035964	T	C	177035964	2	2	23	1	0	0	0	0	0	0	0	1	1276	1461	51	2		2	B4GALT7	5	177035964	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	72575	177035964	3879296	1505	17961										
N4BP3	23138	hgsc.bcm.edu	37	chr5	177547336	177547336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccctgagccccgggccccGggccagccaggcccgggcac	15	21	0	1	rs3812082	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:177547336G>A	ENST00000274605.5	+	3	847	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	163				R -> Q (in Ref. 3; AAH53323). {ECO:0000305}.		cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGGCCCCGGGCCAGCCAG	0.706													G|||	741	0.147963	0.0121	0.2176	5008	,	,		12060	0.1389		0.2058	False		,,,				2504	0.2321				p.R163Q		Atlas-SNP	.											N4BP3,NS,carcinoma,0,2	N4BP3	25	2	0			c.G488A						scavenged	.	G	GLN/ARG	185,4175		8,169,2003	13	17	16		488	0	0.9	5	dbSNP_107	16	1968,6542		246,1476,2533	no	missense	N4BP3	NM_015111.1	43	254,1645,4536	AA,AG,GG		23.1257,4.2431,16.7288	benign	163/545	177547336	2153,10717	2180	4255	6435	SO:0001583	missense	23138	exon3			GGCCCCGGGCCAG	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.488G>A	5.37:g.177547336G>A	ENSP00000274605:p.Arg163Gln	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	12	8	0.666667	NM_015111	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	CCDS34307.1	330	0.1510989010989011	13	0.026422764227642278	78	0.2154696132596685	77	0.1346153846153846	162	0.21372031662269128	G	2.203	-0.382529	0.04966	0.042431	0.231257	ENSG00000145911	ENST00000274605	T	0.00518	6.86	5.13	0.0071	0.14069	.	0.846391	0.10796	N	0.633194	T	0.00012	0.0000	N	0.00926	-1.1	0.47778	P	4.8199999999998244E-4	B	0.14438	0.01	B	0.06405	0.002	T	0.03566	-1.1024	9	0.10636	T	0.68	-17.7226	4.3863	0.11318	0.427:0.0:0.4229:0.1501	rs3812082;rs17846503;rs17859572	163	O15049	N4BP3_HUMAN	Q	163	ENSP00000274605:R163Q	ENSP00000274605:R163Q	R	+	2	0	N4BP3	177479942	1.000000	0.71417	0.896000	0.35187	0.056000	0.15407	1.348000	0.33987	0.079000	0.16929	-1.686000	0.00732	CGG	G|0.832;A|0.168	0.168	strong		0.706	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		A	177547336	G	A	177547336	3	1	23	1	0	0	0	0	1	0	0	0	10113	1116	39	1	494	1	N4BP3	5	177547336	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	511372	177547336	3367924	1506	17962										
ZNF454	285676	hgsc.bcm.edu	37	chr5	178391860	178391860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacaccccatcacaggaatGtgatgaatccgggagcacta	9	12	1	2	rs6867221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:178391860G>A	ENST00000320129.3	+	5	758	c.455G>A	c.(454-456)tGt>tAt	p.C152Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.C152Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	152			C -> Y (in dbSNP:rs6867221). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		TCACAGGAATGTGATGAATCC	0.498													G|||	1359	0.271366	0.1104	0.281	5008	,	,		17861	0.3403		0.3131	False		,,,				2504	0.3681				p.C152Y		Atlas-SNP	.											.	ZNF454	99	.	0			c.G455A						PASS	.	G	TYR/CYS,TYR/CYS,TYR/CYS	627,3779	272.8+/-271.0	46,535,1622	86	83	84		455,455,455	1.5	0	5	dbSNP_116	84	2728,5872	435.4+/-358.0	421,1886,1993	yes	missense,missense,missense	ZNF454	NM_001178089.1,NM_001178090.1,NM_182594.2	194,194,194	467,2421,3615	AA,AG,GG		31.7209,14.2306,25.7958	benign,benign,benign	152/523,152/523,152/523	178391860	3355,9651	2203	4300	6503	SO:0001583	missense	285676	exon5			AGGAATGTGATGA	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.455G>A	5.37:g.178391860G>A	ENSP00000326249:p.Cys152Tyr	Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	151	83	0.549669	NM_001178089	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	608	0.2783882783882784	63	0.12804878048780488	97	0.26795580110497236	208	0.36363636363636365	240	0.316622691292876	G	8.080	0.772256	0.16051	0.142306	0.317209	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.03951	3.75;3.75	4.61	1.45	0.22620	.	4.329230	0.00789	N	0.001329	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.18461	0.028	B	0.14023	0.01	T	0.47861	-0.9084	9	0.39692	T	0.17	7.0408	1.8445	0.03156	0.1253:0.1909:0.4704:0.2134	rs6867221;rs52835898;rs6867221	152	Q8N9F8	ZN454_HUMAN	Y	152	ENSP00000326249:C152Y;ENSP00000430354:C152Y	ENSP00000326249:C152Y	C	+	2	0	ZNF454	178324466	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.406000	0.21032	0.153000	0.19213	0.555000	0.69702	TGT	G|0.733;A|0.267	0.267	strong		0.498	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		A	178391860	G	A	178391860	3	1	23	1	0	0	0	0	1	0	0	0	17920	1377	48	2	469	2	ZNF454	5	178391860	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	844524	178391860	2523400	1507	17963										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178552086	178552086	+	Missense_Mutation	SNP	T	T	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgcacggagcgggtggtgTtgtcgtgtagcggctgaatg					rs376054177		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:178552086T>G	ENST00000251582.7	-	19	2947	c.2846A>C	c.(2845-2847)aAc>aCc	p.N949T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	949	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGGTGGTGTTGTCGTGTAG	0.697																																					p.N949T		Atlas-SNP	.											ADAMTS2,NS,malignant_melanoma,0,1	ADAMTS2	190	1	0			c.A2846C						scavenged	.						111	112	112					5																	178552086		2203	4300	6503	SO:0001583	missense	9509	exon19			GTGGTGTTGTCGT	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2846A>C	5.37:g.178552086T>G	ENSP00000251582:p.Asn949Thr	Somatic	215	3	0.0139535		WXS	Illumina HiSeq	Phase_I	174	4	0.0229885	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344710	0.41498	.	.	ENSG00000087116	ENST00000251582	T	0.54071	0.59	5.31	4.16	0.48862	.	0.196433	0.35291	N	0.003319	T	0.56031	0.1958	L	0.46741	1.465	0.80722	D	1	D	0.52996	0.957	P	0.56434	0.798	T	0.52381	-0.8583	10	0.32370	T	0.25	.	9.8162	0.40853	0.0:0.0807:0.0:0.9193	.	949	O95450	ATS2_HUMAN	T	949	ENSP00000251582:N949T	ENSP00000251582:N949T	N	-	2	0	ADAMTS2	178484692	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	1.694000	0.37752	2.008000	0.58898	0.533000	0.62120	AAC	.	.	weak		0.697	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		G	178552086	T	G	178552086	3	3	23	1	0	0	0	0	1	0	0	0	265	1725	60	5	805	5	ADAMTS2	5	178552086	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	160226	178552086	2363174	1508	17964	374	2								
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																					p.D948N		Atlas-SNP	.											ADAMTS2,caecum,carcinoma,0,2	ADAMTS2	190	2	0			c.G2842A						scavenged	.						112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509	exon19			TGTTGTCGTGTAG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn	Somatic	223	3	0.0134529		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC	.	.	none		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178552090	C	T	178552090	3	4	23	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4	178552090	2363170	1509	17965	374	2								
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178634683	178634683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctaggacgcccagggcgCggctgaggctgtccaggctg	16	14	1	1	rs11750821	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:178634683C>T	ENST00000251582.7	-	4	823	c.722G>A	c.(721-723)cGc>cAc	p.R241H	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R241H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	241			R -> H (in dbSNP:rs11750821).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCCAGGGCGCGGCTGAGGCT	0.672													c|||	360	0.071885	0.0106	0.0937	5008	,	,		14961	0.1052		0.1044	False		,,,				2504	0.0716				p.R241H		Atlas-SNP	.											ADAMTS2,right_upper_lobe,carcinoma,+1,1	ADAMTS2	190	1	0			c.G722A						PASS	.	T	HIS/ARG,HIS/ARG	87,4319	72.5+/-110.5	3,81,2119	71	63	66		722,722	-4.9	0	5	dbSNP_120	66	835,7765	191.7+/-237.8	33,769,3498	yes	missense,missense	ADAMTS2	NM_014244.4,NM_021599.2	29,29	36,850,5617	TT,TC,CC		9.7093,1.9746,7.089	benign,benign	241/1212,241/567	178634683	922,12084	2203	4300	6503	SO:0001583	missense	9509	exon4			AGGGCGCGGCTGA	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.722G>A	5.37:g.178634683C>T	ENSP00000251582:p.Arg241His	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	35	0.492958	NM_021599		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	166	0.076007326007326	4	0.008130081300813009	28	0.07734806629834254	55	0.09615384615384616	79	0.10422163588390501	c	2.950	-0.216993	0.06101	0.019746	0.097093	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62105	0.12;0.05	5.49	-4.94	0.03057	.	1.174200	0.06781	N	0.785253	T	0.01124	0.0037	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.07578	-1.0765	10	0.11794	T	0.64	.	7.9908	0.30239	0.101:0.3896:0.0:0.5094	rs11750821;rs11750821	241;241	O95450-2;O95450	.;ATS2_HUMAN	H	241	ENSP00000251582:R241H;ENSP00000274609:R241H	ENSP00000251582:R241H	R	-	2	0	ADAMTS2	178567289	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.826000	0.04429	-1.704000	0.01407	-3.259000	0.00049	CGC	C|0.931;T|0.069	0.069	strong		0.672	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178634683	C	T	178634683	3	4	23	1	0	0	0	0	1	0	0	0	265	768	27	1	3064	1	ADAMTS2	5	178634683	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	82593	178634683	2280577	1510	17966										
GFPT2	9945	hgsc.bcm.edu	37	chr5	179734200	179734200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccttccaggcaggtggcAtagttgtagccccgccccat	11	15	0	0	rs73343449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:179734200A>G	ENST00000253778.8	-	16	1819	c.1650T>C	c.(1648-1650)taT>taC	p.Y550Y		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	550	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.Y550Y(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCAGGTGGCATAGTTGTAGC	0.647													g|||	1009	0.201478	0.1762	0.1297	5008	,	,		7779	0.2173		0.2535	False		,,,				2504	0.2168				p.Y550Y		Atlas-SNP	.											GFPT2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	GFPT2	74	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.T1650C						scavenged	.			684,3212		69,546,1333	27	29	28		1650	-6.8	0.7	5	dbSNP_130	28	2056,6212		262,1532,2340	no	coding-synonymous	GFPT2	NM_005110.2		331,2078,3673	GG,GA,AA		24.867,17.5565,22.5255		550/683	179734200	2740,9424	1948	4134	6082	SO:0001819	synonymous_variant	9945	exon16			GGTGGCATAGTTG	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1650T>C	5.37:g.179734200A>G		Somatic	149	3	0.0201342		WXS	Illumina HiSeq	Phase_I	153	67	0.437909	NM_005110	Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	CCDS43411.1																																																																																			A|0.788;G|0.212	0.212	strong		0.647	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		G	179734200	A	G	179734200	2	3	23	1	0	0	0	0	0	0	0	1	6346	224	8	2		2	GFPT2	5	179734200	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1099517	179734200	1181060	1511	17967										
MGAT1	4245	hgsc.bcm.edu	37	chr5	180219304	180219304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcagcggataggtggccCgaaagtactcgaagaagtcc	13	10	1	1	rs7726005	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr5:180219304C>T	ENST00000446023.2	-	3	1418	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	MGAT1_ENST00000393340.3_Missense_Mutation_p.R223Q|MGAT1_ENST00000307826.4_Missense_Mutation_p.R223Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.R223Q|MGAT1_ENST00000427865.2_Missense_Mutation_p.R223Q	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	223			R -> Q (in dbSNP:rs7726005).		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGGTGGCCCGAAAGTACTC	0.667													T|||	902	0.180112	0.2322	0.0764	5008	,	,		16522	0.2173		0.1014	False		,,,				2504	0.226				p.R223Q		Atlas-SNP	.											.	MGAT1	48	.	0			c.G668A						PASS	.	T	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	877,3513		96,685,1414	32	35	34		668,668,668,668,668	5.6	1	5	dbSNP_116	34	684,7900		32,620,3640	yes	missense,missense,missense,missense,missense	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	43,43,43,43,43	128,1305,5054	TT,TC,CC		7.9683,19.9772,12.0318	benign,benign,benign,benign,benign	223/446,223/446,223/446,223/446,223/446	180219304	1561,11413	2195	4292	6487	SO:0001583	missense	4245	exon3			GTGGCCCGAAAGT	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.668G>A	5.37:g.180219304C>T	ENSP00000404718:p.Arg223Gln	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	347	0.15888278388278387	123	0.25	36	0.09944751381215469	110	0.19230769230769232	78	0.10290237467018469	T	5.994	0.367390	0.11352	0.199772	0.079683	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.56	5.56	0.83823	.	0.067962	0.64402	N	0.000010	T	0.00039	0.0001	N	0.16166	0.38	0.42390	P	0.007476999999999956	B	0.02656	0.0	B	0.04013	0.001	T	0.05273	-1.0895	9	0.16896	T	0.51	-18.0177	10.1002	0.42499	0.0:0.0798:0.0:0.9202	rs7726005;rs59612173;rs7726005	223	P26572	MGAT1_HUMAN	Q	223;223;223;223;80;223	ENSP00000332073:R223Q;ENSP00000311888:R223Q;ENSP00000404718:R223Q;ENSP00000377010:R223Q;ENSP00000402838:R223Q	ENSP00000311888:R223Q	R	-	2	0	MGAT1	180151910	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	3.167000	0.50793	1.049000	0.40321	-0.254000	0.11334	CGG	C|0.844;T|0.156	0.156	strong		0.667	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		T	180219304	C	T	180219304	3	4	23	1	0	0	0	0	1	0	0	0	9542	652	23	1	673	1	MGAT1	5	180219304	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	485104	180219304	695956	1512	17968										
DUSP22	56940	hgsc.bcm.edu	37	chr6	350829	350829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttcttcacagccgctccGggaattctgaagttctgggc	10	12	5	1	rs1129085	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:350829G>A	ENST00000344450.5	+	8	959	c.516G>A	c.(514-516)ccG>ccA	p.P172P	DUSP22_ENST00000419235.2_3'UTR|DUSP22_ENST00000604971.1_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	172					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCGCTCCGGGAATTCTGA	0.403																																					p.P172P		Atlas-SNP	.											.	DUSP22	55	.	0			c.G516A						PASS	.	A		1964,2442		21,1922,260	126	121	123		516	-9.6	0	6	dbSNP_86	123	2683,5917		27,2629,1644	no	coding-synonymous	DUSP22	NM_020185.3		48,4551,1904	AA,AG,GG		31.1977,44.5756,35.7297		172/185	350829	4647,8359	2203	4300	6503	SO:0001819	synonymous_variant	56940	exon8			CGCTCCGGGAATT	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.516G>A	6.37:g.350829G>A		Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	314	73	0.232484	NM_020185	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	CCDS4468.1																																																																																			G|0.581;A|0.419	0.419	strong		0.403	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		A	350829	G	A	350829	2	1	23	1	0	0	0	0	0	0	0	1	4821	1103	39	1		1	DUSP22	6	350829	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10		350829	170764238	1513	17969										
MYLK4	340156	hgsc.bcm.edu	37	chr6	2749381	2749381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgattacctcattatgtcCagatcttgaatcctggtccc	6	12	2	3	rs2296356	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:2749381C>T	ENST00000274643.7	-	2	490	c.148G>A	c.(148-150)Gga>Aga	p.G50R	MYLK4_ENST00000268446.5_Missense_Mutation_p.G50R	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	50			G -> R (in dbSNP:rs2296356). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.			extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCATTATGTCCAGATCTTGAA	0.383													C|||	786	0.156949	0.0325	0.2651	5008	,	,		19893	0.3194		0.1153	False		,,,				2504	0.1237				p.G50R		Atlas-SNP	.											.	MYLK4	74	.	0			c.G148A						PASS	.	C	ARG/GLY	270,4136	153.3+/-186.9	9,252,1942	129	134	132		148	4.8	0.2	6	dbSNP_100	132	1176,7424	239.7+/-270.7	78,1020,3202	yes	missense	MYLK4	NM_001012418.3	125	87,1272,5144	TT,TC,CC		13.6744,6.128,11.1179	possibly-damaging	50/389	2749381	1446,11560	2203	4300	6503	SO:0001583	missense	340156	exon2			TATGTCCAGATCT		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.148G>A	6.37:g.2749381C>T	ENSP00000274643:p.Gly50Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_001012418	A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	CCDS34330.1	371	0.16987179487179488	20	0.04065040650406504	79	0.21823204419889503	184	0.32167832167832167	88	0.11609498680738786	C	10.14	1.269128	0.23221	0.06128	0.136744	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.66638	0.11;-0.22	5.65	4.79	0.61399	.	.	.	.	.	T	0.29882	0.0747	N	0.08118	0	0.38215	P	0.05940500000000004	B	0.16396	0.017	B	0.12837	0.008	T	0.09122	-1.0689	8	0.38643	T	0.18	.	13.8942	0.63761	0.0:0.8476:0.1524:0.0	rs2296356;rs52819487;rs2296356	50	Q86YV6	MYLK4_HUMAN	R	50	ENSP00000268446:G50R;ENSP00000274643:G50R	ENSP00000268446:G50R	G	-	1	0	MYLK4	2694380	0.094000	0.21725	0.169000	0.22859	0.186000	0.23388	2.859000	0.48364	1.398000	0.46701	-0.127000	0.14921	GGA	C|0.865;T|0.135	0.135	strong		0.383	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		T	2749381	C	T	2749381	3	4	23	1	0	0	0	0	1	0	0	0	10059	603	21	2	1062	2	MYLK4	6	2749381	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2398552	2749381	168365686	1514	17970										
NQO2	4835	hgsc.bcm.edu	37	chr6	3010390	3010390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgatttgtatgccatgaacCttgagccgagggccacagac	11	11	0	4	rs1143684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:3010390C>T	ENST00000338130.2	+	6	851	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	NQO2_ENST00000380430.1_Missense_Mutation_p.L47F|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380455.4_Missense_Mutation_p.L47F|NQO2_ENST00000380454.4_Missense_Mutation_p.L47F|NQO2_ENST00000380441.1_Missense_Mutation_p.L47F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	47			L -> F (in dbSNP:rs1143684). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1691923, ECO:0000269|PubMed:8182056, ECO:0000269|Ref.3, ECO:0000269|Ref.4, ECO:0000269|Ref.7}.		memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TGCCATGAACCTTGAGCCGAG	0.423													T|||	3994	0.797524	0.9849	0.768	5008	,	,		17970	0.6558		0.7893	False		,,,				2504	0.7198				p.L47F		Atlas-SNP	.											.	NQO2	21	.	0			c.C139T						PASS	.	T	PHE/LEU	4234,172	113.3+/-151.4	2036,162,5	84	76	79		139	5.6	1	6	dbSNP_86	79	6728,1872	334.1+/-320.8	2624,1480,196	yes	missense	NQO2	NM_000904.3	22	4660,1642,201	TT,TC,CC		21.7674,3.9038,15.7158	benign	47/232	3010390	10962,2044	2203	4300	6503	SO:0001583	missense	4835	exon3			ATGAACCTTGAGC	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.139C>T	6.37:g.3010390C>T	ENSP00000337773:p.Leu47Phe	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	113	113	1	NM_000904	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	1751	0.8017399267399268	480	0.975609756097561	280	0.7734806629834254	386	0.6748251748251748	605	0.7981530343007915	T	1.141	-0.649564	0.03506	0.960962	0.782326	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	N	0.000000	T	0.00241	0.0007	N	0.00004	-3.395	0.48395	P	3.530000000000477E-4	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.39251	-0.9623	9	0.02654	T	1	-12.5742	9.6892	0.40118	0.0:0.0785:0.0:0.9215	rs1143684;rs2756081;rs17856164;rs60515731;rs1143684	47;94	P16083;Q59EN2	NQO2_HUMAN;.	F	47;47;94;47;47;47;47;47;47	ENSP00000406951:L47F;ENSP00000369839:L47F;ENSP00000380829:L47F;ENSP00000337773:L47F;ENSP00000369806:L47F;ENSP00000369822:L47F;ENSP00000369821:L47F;ENSP00000369795:L47F	ENSP00000337773:L47F	L	+	1	0	NQO2	2955389	1.000000	0.71417	0.988000	0.46212	0.159000	0.22180	5.048000	0.64238	0.967000	0.38186	-0.360000	0.07572	CTT	C|0.183;T|0.817	0.817	strong		0.423	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			T	3010390	C	T	3010390	3	4	23	1	0	0	0	0	1	0	0	0	10612	681	24	2	145	2	NQO2	6	3010390	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	261009	3010390	168104677	1515	17971										
PRPF4B	8899	hgsc.bcm.edu	37	chr6	4044109	4044109	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgaaccaagcagcccccaGagcagtacgagaacacgatc	9	14	1	3	rs12195092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:4044109G>A	ENST00000337659.6	+	6	1813	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	PRPF4B_ENST00000538861.1_Silent_p.Q557Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	571					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCAGCCCCCAGAGCAGTACGA	0.398													G|||	30	0.00599042	0.0015	0.0058	5008	,	,		18977	0.0		0.0219	False		,,,				2504	0.002				p.Q571Q		Atlas-SNP	.											.	PRPF4B	140	.	0			c.G1713A						PASS	.	G		15,4391	22.3+/-47.3	0,15,2188	90	85	87		1713	4.5	1	6	dbSNP_120	87	218,8382	91.4+/-153.5	1,216,4083	no	coding-synonymous	PRPF4B	NM_003913.4		1,231,6271	AA,AG,GG		2.5349,0.3404,1.7915		571/1008	4044109	233,12773	2203	4300	6503	SO:0001819	synonymous_variant	8899	exon6			CCCCCAGAGCAGT	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1713G>A	6.37:g.4044109G>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	119	56	0.470588	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	37	CCDS4488.1																																																																																			G|0.982;A|0.018	0.018	strong		0.398	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			A	4044109	G	A	4044109	2	1	23	1	0	0	0	0	0	0	0	1	12573	933	33	2		2	PRPF4B	6	4044109	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1033719	4044109	167070958	1516	17972										
RREB1	6239	hgsc.bcm.edu	37	chr6	7189437	7189437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accactcatgcagcatctgcGgaaagtcactgagctcggcc	10	14	3	1	rs201588284		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:7189437G>A	ENST00000349384.6	+	6	621	c.307G>A	c.(307-309)Gga>Aga	p.G103R	Y_RNA_ENST00000364613.1_RNA|RREB1_ENST00000379938.2_Missense_Mutation_p.G103R|RREB1_ENST00000334984.6_Missense_Mutation_p.G103R|RREB1_ENST00000379933.3_Missense_Mutation_p.G103R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	103					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCATCTGCGGAAAGTCACT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.001		0.0	False		,,,				2504	0.0				p.G103R		Atlas-SNP	.											RREB1_ENST00000379938,NS,carcinoma,-2,2	RREB1	242	2	0			c.G307A						PASS	.						67	53	57					6																	7189437		2203	4300	6503	SO:0001583	missense	6239	exon6			ATCTGCGGAAAGT	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.307G>A	6.37:g.7189437G>A	ENSP00000305560:p.Gly103Arg	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	59	31	0.525424	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.181977	0.94885	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.66460	3.19;-0.21;3.19;3.19;3.19;3.19;3.19	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000016	T	0.80177	0.4575	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.962	T	0.80759	-0.1239	10	0.62326	D	0.03	-55.3388	19.7284	0.96174	0.0:0.0:1.0:0.0	.	103;103;103	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	103	ENSP00000369265:G103R;ENSP00000420519:G103R;ENSP00000369270:G103R;ENSP00000420299:G103R;ENSP00000305560:G103R;ENSP00000335574:G103R;ENSP00000419511:G103R	ENSP00000335574:G103R	G	+	1	0	RREB1	7134436	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.304000	0.78882	2.668000	0.90789	0.591000	0.81541	GGA	G|0.999;A|0.001	0.001	strong		0.557	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7189437	G	A	7189437	3	1	23	1	0	0	0	0	1	0	0	0	13679	1117	39	1	317	1	RREB1	6	7189437	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3145328	7189437	163925630	1517	17973										
TMEM170B	100113407	hgsc.bcm.edu	37	chr6	11538534	11538534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggcggaggggggcgaccaCtccatgatcaacctgtcggt	15	11	1	1	rs821443	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:11538534C>T	ENST00000379426.1	+	1	24	c.24C>T	c.(22-24)caC>caT	p.H8H	TMEM170B_ENST00000543875.1_Silent_p.H8H	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	8						integral component of membrane (GO:0016021)				large_intestine(3)|lung(5)	8						GGGGCGACCACTCCATGATCA	0.741													C|||	1196	0.238818	0.0492	0.1571	5008	,	,		9205	0.2361		0.2813	False		,,,				2504	0.5123				p.H8H		Atlas-SNP	.											.	TMEM170B	9	.	0			c.C24T						PASS	.	C		279,3599		15,249,1675	19	25	23		24	3.9	1	6	dbSNP_86	23	2047,6137		282,1483,2327	no	coding-synonymous	TMEM170B	NM_001100829.1		297,1732,4002	TT,TC,CC		25.0122,7.1944,19.2837		8/133	11538534	2326,9736	1939	4092	6031	SO:0001819	synonymous_variant	100113407	exon1			CGACCACTCCATG		CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.24C>T	6.37:g.11538534C>T		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	19	19	1	NM_001100829		Silent	SNP	ENST00000379426.1	37	CCDS43425.1																																																																																			C|0.787;T|0.213	0.213	strong		0.741	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		T	11538534	C	T	11538534	2	4	23	1	0	0	0	0	0	0	0	1	16084	564	20	2		2	TMEM170B	6	11538534	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4349097	11538534	159576533	1518	17974										
HIVEP1	3096	hgsc.bcm.edu	37	chr6	12164308	12164308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagacttctgtagccagcGcaaaccaggtcagcaggacc	11	13	2	1	rs181056704		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:12164308G>A	ENST00000379388.2	+	9	8103	c.7771G>A	c.(7771-7773)Gca>Aca	p.A2591T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A456T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2591					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGTAGCCAGCGCAAACCAGGT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21442	0.0		0.001	False		,,,				2504	0.0				p.A2591T		Atlas-SNP	.											.	HIVEP1	242	.	0			c.G7771A						PASS	.	G	THR/ALA	3,4009		0,3,2003	70	78	76		7771	3.3	0	6		76	31,8333		0,31,4151	yes	missense	HIVEP1	NM_002114.2	58	0,34,6154	AA,AG,GG		0.3706,0.0748,0.2747	benign	2591/2719	12164308	34,12342	2006	4182	6188	SO:0001583	missense	3096	exon9			GCCAGCGCAAACC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7771G>A	6.37:g.12164308G>A	ENSP00000368698:p.Ala2591Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	117	58	0.495726	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.33	3.092661	0.56075	7.48E-4	0.003706	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.31769	2.99;1.48	5.23	3.27	0.37495	.	0.224672	0.22869	N	0.054645	T	0.07007	0.0178	L	0.38175	1.15	0.09310	N	1	P	0.35155	0.487	B	0.20955	0.032	T	0.13098	-1.0522	10	0.37606	T	0.19	-6.4409	6.6498	0.22955	0.0763:0.2109:0.5992:0.1136	.	2591	P15822	ZEP1_HUMAN	T	2591;456;573	ENSP00000368698:A2591T;ENSP00000445617:A456T	ENSP00000368698:A2591T	A	+	1	0	HIVEP1	12272294	0.000000	0.05858	0.005000	0.12908	0.319000	0.28217	0.217000	0.17603	1.173000	0.42796	0.580000	0.79431	GCA	G|0.999;A|0.001	0.001	strong		0.537	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12164308	G	A	12164308	3	1	23	1	0	0	0	0	1	0	0	0	7186	1087	38	1	7801	1	HIVEP1	6	12164308	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	625774	12164308	158950759	1519	17975										
EDN1	1906	hgsc.bcm.edu	37	chr6	12296255	12296255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcccaagctgaaaggcaaGccctccagagagcgttatgt	11	11	0	2	rs5370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:12296255G>T	ENST00000379375.5	+	5	861	c.594G>T	c.(592-594)aaG>aaT	p.K198N		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	198			K -> N (polymorphism associated with HDL cholesterol levels is some populations and in a sex-specific manner; dbSNP:rs5370). {ECO:0000269|PubMed:10334806, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17357073, ECO:0000269|PubMed:18288492, ECO:0000269|Ref.5}.		artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)	p.K198N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGAAAGGCAAGCCCTCCAGAG	0.483													G|||	1239	0.247404	0.1619	0.147	5008	,	,		18203	0.2857		0.2127	False		,,,				2504	0.4305				p.K198N		Atlas-SNP	.											EDN1,NS,carcinoma,0,1	EDN1	23	1	1	Substitution - Missense(1)	stomach(1)	c.G594T	GRCh37	CM993569	EDN1	M	rs5370	scavenged	.	G	ASN/LYS,ASN/LYS	865,3541	337.0+/-304.7	98,669,1436	158	150	152	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	591,594	2.2	0.1	6	dbSNP_52	152	1817,6783	326.9+/-317.6	185,1447,2668	yes	missense,missense	EDN1	NM_001168319.1,NM_001955.4	94,94	283,2116,4104	TT,TG,GG		21.1279,19.6323,20.6213	benign,benign	197/212,198/213	12296255	2682,10324	2203	4300	6503	SO:0001583	missense	1906	exon5			AGGCAAGCCCTCC	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.594G>T	6.37:g.12296255G>T	ENSP00000368683:p.Lys198Asn	Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	108	51	0.472222	NM_001955	Q96DA1	Missense_Mutation	SNP	ENST00000379375.5	37	CCDS4522.1	449	0.20558608058608058	68	0.13821138211382114	63	0.17403314917127072	158	0.2762237762237762	160	0.21108179419525067	G	7.695	0.691892	0.15039	0.196323	0.211279	ENSG00000078401	ENST00000379375	D	0.84589	-1.87	5.93	2.18	0.27775	.	0.551151	0.21002	N	0.081852	T	0.60894	0.2304	L	0.38175	1.15	0.45452	P	0.001570999999999989	P;P	0.34462	0.454;0.454	B;B	0.26614	0.071;0.071	T	0.49532	-0.8930	9	0.51188	T	0.08	-14.7064	9.471	0.38842	0.276:0.0:0.724:0.0	rs5370;rs2229566;rs17845238;rs17858054;rs57072783;rs5370	198;198	Q6FH53;P05305	.;EDN1_HUMAN	N	198	ENSP00000368683:K198N	ENSP00000368683:K198N	K	+	3	2	EDN1	12404241	0.001000	0.12720	0.141000	0.22245	0.005000	0.04900	0.049000	0.14099	0.116000	0.18110	0.655000	0.94253	AAG	G|0.787;T|0.213	0.213	strong		0.483	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		T	12296255	G	T	12296255	3	4	23	1	0	0	0	0	1	0	0	0	4916	962	34	4	612	4	EDN1	6	12296255	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131947	12296255	158818812	1520	17976										
JARID2	3720	hgsc.bcm.edu	37	chr6	15468876	15468876	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagacgtcaaaacagccacCaacaatgcttcatcttcatg	6	12	4	1	rs7768621	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:15468876C>G	ENST00000341776.2	+	5	841	c.597C>G	c.(595-597)acC>acG	p.T199T	JARID2_ENST00000541660.1_Silent_p.T161T|JARID2_ENST00000397311.3_Silent_p.T27T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	199					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAACAGCCACCAACAATGCTT	0.502													C|||	261	0.0521166	0.0061	0.0692	5008	,	,		20354	0.0		0.1243	False		,,,				2504	0.0818				p.T199T		Atlas-SNP	.											.	JARID2	135	.	0			c.C597G						PASS	.	C		108,4298	84.4+/-122.9	2,104,2097	150	123	132		597	3.9	1	6	dbSNP_116	132	1196,7404	242.9+/-272.7	83,1030,3187	no	coding-synonymous	JARID2	NM_004973.2		85,1134,5284	GG,GC,CC		13.907,2.4512,10.0261		199/1247	15468876	1304,11702	2203	4300	6503	SO:0001819	synonymous_variant	3720	exon5			AGCCACCAACAAT	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.597C>G	6.37:g.15468876C>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	136	64	0.470588	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	CCDS4533.1																																																																																			C|0.903;G|0.096;T|0.000	0.096	strong		0.502	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		G	15468876	C	G	15468876	2	3	23	1	0	0	0	0	0	0	0	1	7945	581	21	4		4	JARID2	6	15468876	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3172621	15468876	155646191	1521	17977										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctgctgctgctgctgCtgctgctgctgatgctgatg	14	11	0	2	rs184327938		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667																																					p.Q215H		Atlas-SNP	.											ATXN1,NS,carcinoma,0,3	ATXN1	117	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.G645T						PASS	.						4	8	7					6																	16327897		1730	3633	5363	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.645G>T	6.37:g.16327897C>A	ENSP00000244769:p.Gln215His	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	161	0.07371794871794872	7	0.014227642276422764	16	0.04419889502762431	116	0.20279720279720279	22	0.029023746701846966	-	1.752	-0.489019	0.04352	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56611	0.45;0.45	.	.	.	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21245	-1.0251	5	0.59425	D	0.04	.	.	.	.	.	215	P54253	ATX1_HUMAN	H	215	ENSP00000244769:Q215H;ENSP00000416360:Q215H	ENSP00000244769:Q215H	Q	-	3	2	ATXN1	16435876	0.000000	0.05858	0.011000	0.14972	0.097000	0.18754	-0.615000	0.05597	0.107000	0.17824	0.109000	0.15622	CAG	C|0.926;A|0.074	0.074	strong		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327897	C	A	16327897	3	1	23	1	0	0	0	0	1	0	0	0	1209	796	28	4	1810	4	ATXN1	6	16327897	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	859021	16327897	154787170	1522	17978										
KIF13A	63971	hgsc.bcm.edu	37	chr6	17764530	17764530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaccatcaaaatcttttccCtctgacactcccataaattc	1	14	3	1	rs9371018	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:17764530C>T	ENST00000259711.6	-	39	5334	c.5229G>A	c.(5227-5229)gaG>gaA	p.E1743E	KIF13A_ENST00000378816.5_Silent_p.E1708E|KIF13A_ENST00000378814.5_Silent_p.E1695E|KIF13A_ENST00000378826.2_Silent_p.E1708E|KIF13A_ENST00000378843.2_Silent_p.E1695E	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATCTTTTCCCTCTGACACTC	0.502													C|||	1517	0.302915	0.1006	0.3343	5008	,	,		18534	0.5347		0.3072	False		,,,				2504	0.3108				p.E1743E		Atlas-SNP	.											.	KIF13A	276	.	0			c.G5229A						PASS	.	C	,,,	453,3283		30,393,1445	64	60	61		5124,5085,5085,5229	-8.6	0.3	6	dbSNP_119	61	2572,5640		409,1754,1943	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	439,2147,3388	TT,TC,CC		31.32,12.1253,25.318	,,,	1708/1771,1695/1758,1695/1750,1743/1806	17764530	3025,8923	1868	4106	5974	SO:0001819	synonymous_variant	63971	exon39			TTTTCCCTCTGAC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5229G>A	6.37:g.17764530C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	165	67	0.406061	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																			C|0.684;T|0.316	0.316	strong		0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17764530	C	T	17764530	2	4	23	1	0	0	0	0	0	0	0	1	8274	680	24	2		2	KIF13A	6	17764530	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1436633	17764530	153350537	1523	17979										
KIF13A	63971	hgsc.bcm.edu	37	chr6	17794494	17794494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttacctggtaactgtccaGccctctttggagtttggtgg	11	10	2	0	rs3734234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:17794494G>A	ENST00000259711.6	-	25	3313	c.3208C>T	c.(3208-3210)Ctg>Ttg	p.L1070L	KIF13A_ENST00000378816.5_Silent_p.L1070L|KIF13A_ENST00000378814.5_Silent_p.L1070L|KIF13A_ENST00000378826.2_Silent_p.L1070L|KIF13A_ENST00000378843.2_Silent_p.L1070L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1070					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAACTGTCCAGCCCTCTTTGG	0.473													G|||	1878	0.375	0.146	0.4207	5008	,	,		17815	0.5823		0.4314	False		,,,				2504	0.3804				p.L1070L		Atlas-SNP	.											.	KIF13A	276	.	0			c.C3208T						PASS	.	G	,,,	683,3075		67,549,1263	107	99	101		3208,3208,3208,3208	3.6	1	6	dbSNP_107	101	3639,4613		806,2027,1293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	873,2576,2556	AA,AG,GG		44.0984,18.1746,35.9867	,,,	1070/1771,1070/1758,1070/1750,1070/1806	17794494	4322,7688	1879	4126	6005	SO:0001819	synonymous_variant	63971	exon25			TGTCCAGCCCTCT	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3208C>T	6.37:g.17794494G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	112	50	0.446429	NM_001105567	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																			G|0.609;A|0.391	0.391	strong		0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			A	17794494	G	A	17794494	2	1	23	1	0	0	0	0	0	0	0	1	8274	962	34	2		2	KIF13A	6	17794494	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	29964	17794494	153320573	1524	17980										
KDM1B	221656	hgsc.bcm.edu	37	chr6	18161563	18161563	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgactcccttaggcgaaGaagaaagcaacagagacaac	10	10	0	4	rs4716224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:18161563G>A	ENST00000297792.5	+	4	270	c.93G>A	c.(91-93)aaG>aaA	p.K31K	KDM1B_ENST00000397244.1_Silent_p.K31K|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Silent_p.K31K			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	31					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTTAGGCGAAGAAGAAAGCAA	0.433													G|||	1570	0.313498	0.146	0.3501	5008	,	,		20748	0.5258		0.3419	False		,,,				2504	0.2658				p.K31K		Atlas-SNP	.											.	KDM1B	58	.	0			c.G93A						PASS	.	G		860,3546	336.3+/-304.3	89,682,1432	181	147	159		93	5.8	1	6	dbSNP_111	159	3088,5512	471.5+/-368.1	575,1938,1787	no	coding-synonymous	KDM1B	NM_153042.3		664,2620,3219	AA,AG,GG		35.907,19.5188,30.3552		31/591	18161563	3948,9058	2203	4300	6503	SO:0001819	synonymous_variant	221656	exon4			GGCGAAGAAGAAA	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.93G>A	6.37:g.18161563G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	58	28	0.482759	NM_153042	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	CCDS34343.1																																																																																			G|0.683;A|0.317	0.317	strong		0.433	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		A	18161563	G	A	18161563	2	1	23	1	0	0	0	0	0	0	0	1	8123	933	33	2		2	KDM1B	6	18161563	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	367069	18161563	152953504	1525	17981										
HDGFL1	154150	hgsc.bcm.edu	37	chr6	22570064	22570064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaatcgagaacaaccccaCggtccaggcctccgactgcc	10	16	0	1	rs2076506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:22570064C>T	ENST00000230012.3	+	1	387	c.260C>T	c.(259-261)aCg>aTg	p.T87M	HDGFL1_ENST00000510882.2_Missense_Mutation_p.T87M	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	87			T -> M (in dbSNP:rs2076506).							kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AACAACCCCACGGTCCAGGCC	0.652													C|||	955	0.190695	0.0567	0.2493	5008	,	,		12678	0.3879		0.0865	False		,,,				2504	0.2342				p.T87M		Atlas-SNP	.											.	HDGFL1	33	.	0			c.C260T						PASS	.	C	MET/THR	301,4105		13,275,1915	27	26	26		260	1.4	0	6	dbSNP_96	26	711,7887		27,657,3615	yes	missense	HDGFL1	NM_138574.2	81	40,932,5530	TT,TC,CC		8.2694,6.8316,7.7822	possibly-damaging	87/252	22570064	1012,11992	2203	4299	6502	SO:0001583	missense	154150	exon1			ACCCCACGGTCCA	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.260C>T	6.37:g.22570064C>T	ENSP00000230012:p.Thr87Met	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	24	15	0.625	NM_138574	Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	CCDS34347.1	375	0.1717032967032967	29	0.05894308943089431	70	0.19337016574585636	213	0.3723776223776224	63	0.08311345646437995	C	10.33	1.320124	0.23994	0.068316	0.082694	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.70749	-0.51;-0.51	3.28	1.38	0.22167	.	0.258413	0.37261	N	0.002180	T	0.33673	0.0871	L	0.42245	1.32	0.80722	P	0.0	D	0.53745	0.962	B	0.38378	0.272	T	0.31779	-0.9931	9	0.51188	T	0.08	-40.4351	1.6909	0.02852	0.2123:0.453:0.2077:0.127	rs2076506;rs56879815;rs2076506	87	Q5TGJ6	HDGL1_HUMAN	M	87	ENSP00000230012:T87M;ENSP00000442129:T87M	ENSP00000230012:T87M	T	+	2	0	HDGFL1	22678043	0.000000	0.05858	0.007000	0.13788	0.424000	0.31475	-0.161000	0.10026	0.352000	0.24053	0.491000	0.48974	ACG	C|0.862;T|0.138	0.138	strong		0.652	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		T	22570064	C	T	22570064	3	4	23	1	0	0	0	0	1	0	0	0	7019	536	19	1	262	1	HDGFL1	6	22570064	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4408501	22570064	148545003	1526	17982										
HDGFL1	154150	hgsc.bcm.edu	37	chr6	22570245	22570245	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaaggggccgctgaagagGagcgcgggggacccgccgga	21	10	0	3	rs6900627	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:22570245G>A	ENST00000230012.3	+	1	568	c.441G>A	c.(439-441)agG>agA	p.R147R	HDGFL1_ENST00000510882.2_Silent_p.R147R	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	147	Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CGCTGAAGAGGAGCGCGGGGG	0.716													G|||	862	0.172125	0.2352	0.2075	5008	,	,		10556	0.001		0.2684	False		,,,				2504	0.1391				p.R147R		Atlas-SNP	.											.	HDGFL1	33	.	0			c.G441A						PASS	.	G		780,3036		80,620,1208	6	5	6		441	3.2	0	6	dbSNP_116	6	1799,5881		231,1337,2272	no	coding-synonymous	HDGFL1	NM_138574.2		311,1957,3480	AA,AG,GG		23.4245,20.4403,22.4339		147/252	22570245	2579,8917	1908	3840	5748	SO:0001819	synonymous_variant	154150	exon1			GAAGAGGAGCGCG	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.441G>A	6.37:g.22570245G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	58	20	0.344828	NM_138574	Q96MJ6	Silent	SNP	ENST00000230012.3	37	CCDS34347.1																																																																																			G|0.820;A|0.180	0.180	strong		0.716	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		A	22570245	G	A	22570245	2	1	23	1	0	0	0	0	0	0	0	1	7019	1165	41	2		2	HDGFL1	6	22570245	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	181	22570245	148544822	1527	17983										
GPLD1	2822	hgsc.bcm.edu	37	chr6	24489652	24489652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagtacttacctatttctaCgtgtgttgaaaggccacacg	8	11	1	1	rs1126617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:24489652C>T	ENST00000230036.1	-	1	198	c.88G>A	c.(88-90)Gta>Ata	p.V30I	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	30			V -> I (in dbSNP:rs1126617). {ECO:0000269|PubMed:11072085, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTATTTCTACGTGTGTTGAA	0.463													C|||	1345	0.26857	0.3139	0.2089	5008	,	,		23090	0.1667		0.332	False		,,,				2504	0.2894				p.V30I		Atlas-SNP	.											.	GPLD1	91	.	0			c.G88A						PASS	.	C	ILE/VAL,ILE/VAL	1367,3039	453.2+/-350.3	210,947,1046	131	107	115		88,88	-6.8	0.1	6	dbSNP_86	115	2890,5710	452.1+/-362.9	465,1960,1875	yes	missense,missense	GPLD1	NM_001503.2,NM_177483.1	29,29	675,2907,2921	TT,TC,CC		33.6047,31.0259,32.731	benign,benign	30/841,30/177	24489652	4257,8749	2203	4300	6503	SO:0001583	missense	2822	exon1			TTTCTACGTGTGT	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.88G>A	6.37:g.24489652C>T	ENSP00000230036:p.Val30Ile	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	111	108	0.972973	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	606	0.2774725274725275	147	0.29878048780487804	93	0.2569060773480663	108	0.1888111888111888	258	0.3403693931398417	C	0.006	-2.052583	0.00394	0.310259	0.336047	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.38722	1.12	4.89	-6.76	0.01732	.	0.560584	0.17082	N	0.187745	T	0.03651	0.0104	N	0.01751	-0.74	0.80722	P	0.0	B;B	0.13594	0.004;0.008	B;B	0.14023	0.002;0.01	T	0.24440	-1.0160	9	0.02654	T	1	-2.006	14.647	0.68767	0.0:0.3288:0.0:0.6712	rs1126617;rs1804164;rs2235500;rs3181755;rs17374253;rs17404904;rs59497448;rs1126617	30;30	P80108-2;P80108	.;PHLD_HUMAN	I	30	ENSP00000230036:V30I	ENSP00000230036:V30I	V	-	1	0	GPLD1	24597631	0.004000	0.15560	0.147000	0.22382	0.007000	0.05969	-0.977000	0.03782	-1.433000	0.01977	-0.991000	0.02546	GTA	C|0.700;T|0.299	0.299	strong		0.463	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		T	24489652	C	T	24489652	3	4	23	1	0	0	0	0	1	0	0	0	6614	536	19	1	2575	1	GPLD1	6	24489652	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1919407	24489652	146625415	1528	17984										
ALDH5A1	7915	hgsc.bcm.edu	37	chr6	24503590	24503590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtttacggagacattatcCacaccccggcaaaggacagg	11	11	0	1	rs2760118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:24503590C>T	ENST00000357578.3	+	3	683	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.H152Y|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.H92Y|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.H180Y	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	180			H -> Y (83% of activity; dbSNP:rs2760118). {ECO:0000269|PubMed:14635103, ECO:0000269|PubMed:14702039}.		acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AGACATTATCCACACCCCGGC	0.567													T|||	1576	0.314696	0.466	0.219	5008	,	,		19092	0.1667		0.3231	False		,,,				2504	0.3221				p.H180Y		Atlas-SNP	.											.	ALDH5A1	42	.	0			c.C538T	GRCh37	CM083577	ALDH5A1	M	rs2760118	PASS	.	T	TYR/HIS,TYR/HIS	1937,2469	622.5+/-394.0	430,1077,696	49	49	49		538,538	0	0	6	dbSNP_100	49	2891,5709	671.4+/-402.8	470,1951,1879	yes	missense,missense	ALDH5A1	NM_001080.3,NM_170740.1	83,83	900,3028,2575	TT,TC,CC		33.6163,43.9628,37.1213	benign,benign	180/536,180/549	24503590	4828,8178	2203	4300	6503	SO:0001583	missense	7915	exon3			ATTATCCACACCC	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.538C>T	6.37:g.24503590C>T	ENSP00000350191:p.His180Tyr	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	29	28	0.965517	NM_001080	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	670	0.3067765567765568	224	0.45528455284552843	91	0.2513812154696133	105	0.18356643356643357	250	0.32981530343007914	T	5.650	0.304590	0.10678	0.439628	0.336163	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.22	-0.0441	0.13856	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.816074	0.11105	N	0.599274	T	0.31513	0.0799	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04737	-1.0930	9	0.51188	T	0.08	0.2889	1.8122	0.03092	0.1336:0.3194:0.3093:0.2376	rs2760118;rs3765309;rs52829319;rs60953148;rs2760118	180;180	P51649;G5E949	SSDH_HUMAN;.	Y	180;92;152;180	ENSP00000350191:H180Y;ENSP00000438193:H92Y;ENSP00000417687:H152Y;ENSP00000314649:H180Y	ENSP00000314649:H180Y	H	+	1	0	ALDH5A1	24611569	0.029000	0.19370	0.013000	0.15412	0.241000	0.25554	0.812000	0.27211	-0.423000	0.07394	-0.269000	0.10298	CAC	C|0.656;T|0.344	0.344	strong		0.567	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			T	24503590	C	T	24503590	3	4	23	1	0	0	0	0	1	0	0	0	502	594	21	2	548	2	ALDH5A1	6	24503590	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13938	24503590	146611477	1529	17985										
LRRC16A	55604	hgsc.bcm.edu	37	chr6	25472737	25472737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaaccttgctggcaacccaCtggaggatagaggtactgca	11	10	0	1	rs41271815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:25472737C>T	ENST00000329474.6	+	11	1230	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	LRRC16A_ENST00000377969.3_Silent_p.L127L	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	288					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGCAACCCACTGGAGGATAG	0.418													C|||	320	0.0638978	0.0061	0.0245	5008	,	,		16628	0.0764		0.0865	False		,,,				2504	0.1339				p.L288L		Atlas-SNP	.											.	LRRC16A	168	.	0			c.C862T						PASS	.	C	,	47,3697		0,47,1825	47	43	44		862,862	5.8	1	6	dbSNP_127	44	579,7621		19,541,3540	no	coding-synonymous,coding-synonymous	LRRC16A	NM_001173977.1,NM_017640.5	,	19,588,5365	TT,TC,CC		7.061,1.2553,5.2411	,	288/1366,288/1372	25472737	626,11318	1872	4100	5972	SO:0001819	synonymous_variant	55604	exon11			AACCCACTGGAGG	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.862C>T	6.37:g.25472737C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	116	59	0.508621	NM_001173977	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	CCDS54973.1																																																																																			C|0.935;T|0.065	0.065	strong		0.418	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25472737	C	T	25472737	2	4	23	1	0	0	0	0	0	0	0	1	8971	564	20	2		2	LRRC16A	6	25472737	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	969147	25472737	145642330	1530	17986										
HIST1H2AA	221613	hgsc.bcm.edu	37	chr6	25726621	25726621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatacactggtgcgcctgcCcctatccgctctgcatagtt	8	14	1	0	rs9467583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:25726621C>T	ENST00000297012.3	-	1	169	c.135G>A	c.(133-135)ggG>ggA	p.G45G	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	45						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GTGCGCCTGCCCCTATCCGCT	0.532													C|||	1124	0.224441	0.3222	0.196	5008	,	,		18740	0.1062		0.2505	False		,,,				2504	0.2076				p.G45G		Atlas-SNP	.											HIST1H2AA,NS,malignant_melanoma,0,3	HIST1H2AA	34	3	0			c.G135A						PASS	.	C		1346,3060	448.7+/-348.8	202,942,1059	302	226	252		135	-1.5	0	6	dbSNP_119	252	2250,6350	380.1+/-339.5	313,1624,2363	no	coding-synonymous	HIST1H2AA	NM_170745.3		515,2566,3422	TT,TC,CC		26.1628,30.5493,27.6488		45/132	25726621	3596,9410	2203	4300	6503	SO:0001819	synonymous_variant	221613	exon1			GCCTGCCCCTATC	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.135G>A	6.37:g.25726621C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	97	32	0.329897	NM_170745		Silent	SNP	ENST00000297012.3	37	CCDS4562.1																																																																																			C|0.749;T|0.251	0.251	strong		0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		T	25726621	C	T	25726621	2	4	23	1	0	0	0	0	0	0	0	1	7128	610	22	2		2	HIST1H2AA	6	25726621	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	253884	25726621	145388446	1531	17987										
SLC17A4	10050	hgsc.bcm.edu	37	chr6	25773809	25773809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaccactctgggccattttAgtctcttatttctgtgaata	6	9	3	1	rs2275906	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:25773809A>G	ENST00000377905.4	+	8	1013	c.894A>G	c.(892-894)ttA>ttG	p.L298L	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Silent_p.L68L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	298					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCCATTTTAGTCTCTTATT	0.453													A|||	485	0.096845	0.0295	0.111	5008	,	,		19912	0.0546		0.1421	False		,,,				2504	0.1748				p.L298L		Atlas-SNP	.											.	SLC17A4	79	.	0			c.A894G						PASS	.	A		181,4225	117.1+/-155.0	6,169,2028	171	151	158		894	-2.7	0	6	dbSNP_100	158	1251,7349	249.6+/-276.8	85,1081,3134	no	coding-synonymous	SLC17A4	NM_005495.2		91,1250,5162	GG,GA,AA		14.5465,4.108,11.0103		298/498	25773809	1432,11574	2203	4300	6503	SO:0001819	synonymous_variant	10050	exon8			CATTTTAGTCTCT	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.894A>G	6.37:g.25773809A>G		Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	301	136	0.451827	NM_005495	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	CCDS4564.1																																																																																			A|0.903;G|0.097	0.097	strong		0.453	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			G	25773809	A	G	25773809	2	3	23	1	0	0	0	0	0	0	0	1	14419	417	15	3		3	SLC17A4	6	25773809	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47188	25773809	145341258	1532	17988										
SLC17A3	10786	hgsc.bcm.edu	37	chr6	25850845	25850845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaggctgcttagaagaccCgacctgaaaacaaatttact	8	9	0	4	rs56027330	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:25850845C>T	ENST00000360657.3	-	7	886	c.601G>A	c.(601-603)Ggg>Agg	p.G201R	SLC17A3_ENST00000397060.4_Missense_Mutation_p.G279R|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G201R			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	201			G -> R (in dbSNP:rs56027330). {ECO:0000269|PubMed:15505377}.		drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTAGAAGACCCGACCTGAAAA	0.423													T|||	348	0.0694888	0.0136	0.0793	5008	,	,		19531	0.0238		0.1362	False		,,,				2504	0.1166				p.G279R		Atlas-SNP	.											SLC17A3,NS,carcinoma,+1,1	SLC17A3	95	1	0			c.G835A	GRCh37	CM043093	SLC17A3	M	rs56027330	PASS	.	T	ARG/GLY,ARG/GLY	144,4262	812.9+/-416.1	4,136,2063	106	103	104		835,601	2.3	0	6	dbSNP_129	104	1082,7518	768.9+/-407.6	73,936,3291	yes	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	125,125	77,1072,5354	TT,TC,CC		12.5814,3.2683,9.4264	benign,benign	279/499,201/421	25850845	1226,11780	2203	4300	6503	SO:0001583	missense	10786	exon8			AAGACCCGACCTG	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.601G>A	6.37:g.25850845C>T	ENSP00000353873:p.Gly201Arg	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	63	38	0.603175	NM_001098486	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	CCDS4566.2	153	0.07005494505494506	11	0.022357723577235773	33	0.09116022099447514	9	0.015734265734265736	100	0.13192612137203166	T	12.48	1.949222	0.34377	0.032683	0.125814	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.57273	0.41;0.41;0.41	3.53	2.32	0.28847	Major facilitator superfamily domain, general substrate transporter (1);	4.308840	0.00481	N	0.000127	T	0.13970	0.0338	N	0.16130	0.375	0.80722	P	0.0	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.0	T	0.06917	-1.0800	9	0.25751	T	0.34	.	3.7929	0.08728	0.0:0.1185:0.2204:0.6611	rs56027330;rs61745238	201;279;201	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	R	279;201;201	ENSP00000380250:G279R;ENSP00000353873:G201R;ENSP00000355307:G201R	ENSP00000353873:G201R	G	-	1	0	SLC17A3	25958824	0.011000	0.17503	0.009000	0.14445	0.675000	0.39556	0.386000	0.20702	0.204000	0.20548	-0.352000	0.07741	GGG	C|0.910;T|0.090	0.090	strong		0.423	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			T	25850845	C	T	25850845	3	4	23	1	0	0	0	0	1	0	0	0	14418	652	23	1	681	1	SLC17A3	6	25850845	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	77036	25850845	145264222	1533	17989										
HIST1H1A	3024	hgsc.bcm.edu	37	chr6	26017397	26017397	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgccttgggttttacagcCttagctttagcagggctttt	11	10	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26017397C>G	ENST00000244573.3	-	1	643	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	188					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						GTTTTACAGCCTTAGCTTTAG	0.453																																					p.K188N		Atlas-SNP	.											.	HIST1H1A	25	.	0			c.G564C						PASS	.						151	159	156					6																	26017397		2203	4300	6503	SO:0001583	missense	3024	exon1			TACAGCCTTAGCT	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.564G>C	6.37:g.26017397C>G	ENSP00000244573:p.Lys188Asn	Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	251	125	0.498008	NM_005325	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.346702	0.24426	.	.	ENSG00000124610	ENST00000244573	T	0.20463	2.07	4.31	4.31	0.51392	.	0.070517	0.56097	D	0.000038	T	0.09949	0.0244	L	0.45352	1.415	0.51482	D	0.99992	P	0.37636	0.603	B	0.28385	0.089	T	0.08269	-1.0730	10	0.56958	D	0.05	-13.3791	16.683	0.85297	0.0:1.0:0.0:0.0	.	188	Q02539	H11_HUMAN	N	188	ENSP00000244573:K188N	ENSP00000244573:K188N	K	-	3	2	HIST1H1A	26125376	0.881000	0.30235	0.884000	0.34674	0.057000	0.15508	0.342000	0.19926	2.320000	0.78422	0.609000	0.83330	AAG	.	.	none		0.453	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		G	26017397	C	G	26017397	3	3	23	1	0	0	0	0	1	0	0	0	7122	680	24	4	87	4	HIST1H1A	6	26017397	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	166552	26017397	145097670	1534	17990										
HIST1H3C	8352	hgsc.bcm.edu	37	chr6	26045737	26045737	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtaagagcgctccggccacCggtggcgtgaagaaacctca	13	13	1	3	rs3752418	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26045737C>G	ENST00000540144.1	+	1	99	c.99C>G	c.(97-99)acC>acG	p.T33T	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	33					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CTCCGGCCACCGGTGGCGTGA	0.617													c|||	1086	0.216853	0.0734	0.2695	5008	,	,		16517	0.5149		0.0676	False		,,,				2504	0.2198				p.T33T		Atlas-SNP	.											.	HIST1H3C	34	.	0			c.C99G						PASS	.	G		400,4006	186.7+/-213.5	19,362,1822	41	44	43		99	-9.3	0.1	6	dbSNP_107	43	578,8020	146.3+/-201.9	15,548,3736	no	coding-synonymous	HIST1H3C	NM_003531.2		34,910,5558	GG,GC,CC		6.7225,9.0785,7.5208		33/137	26045737	978,12026	2203	4299	6502	SO:0001819	synonymous_variant	8352	exon1			GGCCACCGGTGGC	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.99C>G	6.37:g.26045737C>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	76	43	0.565789	NM_003531	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	CCDS4576.1																																																																																			C|0.881;G|0.119	0.119	strong		0.617	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		G	26045737	C	G	26045737	2	3	23	1	0	0	0	0	0	0	0	1	7157	639	23	4		4	HIST1H3C	6	26045737	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28340	26045737	145069330	1535	17991										
HFE	3077	hgsc.bcm.edu	37	chr6	26091179	26091179	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgttcgtgttctatgatCatgagagtcgccgtgtggag					rs1799945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26091179C>G	ENST00000357618.5	+	2	309	c.187C>G	c.(187-189)Cat>Gat	p.H63D	HFE_ENST00000317896.7_Missense_Mutation_p.H63D|HFE_ENST00000336625.8_Missense_Mutation_p.H63D|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.H40D|HFE_ENST00000309234.6_Missense_Mutation_p.H63D|HFE_ENST00000461397.1_Missense_Mutation_p.H63D|HFE_ENST00000470149.1_Missense_Mutation_p.H63D|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000349999.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	63	Alpha-1.		H -> D (polymorphism associated with hemochromatosis and variegate porphyria; increased frequency among patients with diabetic nephropathy; dbSNP:rs1799945). {ECO:0000269|PubMed:10094552, ECO:0000269|PubMed:10194428, ECO:0000269|PubMed:10401000, ECO:0000269|PubMed:11069625, ECO:0000269|PubMed:11423500, ECO:0000269|PubMed:18157833, ECO:0000269|PubMed:8696333, ECO:0000269|PubMed:9106528, ECO:0000269|PubMed:9425935, ECO:0000269|PubMed:9620340, ECO:0000269|Ref.8}.		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTCTATGATCATGAGAGTCG	0.522									Hemochromatosis				C|||	366	0.0730831	0.0113	0.1153	5008	,	,		20637	0.0288		0.172	False		,,,				2504	0.0706				p.H63D		Atlas-SNP	.											.	HFE	37	.	0			c.C187G	GRCh37	CM960827	HFE	M	rs1799945	PASS	.	C	ASP/HIS,ASP/HIS,ASP/HIS,ASP/HIS,,,ASP/HIS,,	139,4267	98.9+/-137.6	2,135,2066	143	130	135	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	187,187,187,187,,,118,,	3.5	0	6	dbSNP_89	135	1301,7299	257.7+/-281.7	87,1127,3086	yes	missense,missense,missense,missense,intron,intron,missense,intron,intron	HFE	NM_000410.3,NM_139003.2,NM_139004.2,NM_139006.2,NM_139007.2,NM_139008.2,NM_139009.2,NM_139010.2,NM_139011.2	81,81,81,81,,,81,,	89,1262,5152	GG,GC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	15.1279,3.1548,11.0718	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,,	63/349,63/243,63/257,63/335,,,40/326,,	26091179	1440,11566	2203	4300	6503	SO:0001583	missense	3077	exon2	Familial Cancer Database		TATGATCATGAGA		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.187C>G	6.37:g.26091179C>G	ENSP00000417404:p.His63Asp	Somatic	272	1	0.00367647		WXS	Illumina HiSeq	Phase_I	241	129	0.53527	NM_139006	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	183	0.08379120879120878	9	0.018292682926829267	44	0.12154696132596685	14	0.024475524475524476	116	0.15303430079155672	C	12.44	1.939434	0.34189	0.031548	0.151279	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.88741	-2.42;5.87;-2.42;-2.42;5.87;-2.42;-2.42	5.3	3.51	0.40186	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.680049	0.14025	N	0.346540	D	0.87954	0.6308	L	0.61036	1.89	0.80722	P	0.0	B;D;D;B;B;B	0.62365	0.142;0.991;0.991;0.117;0.147;0.142	B;P;P;B;B;B	0.61070	0.161;0.883;0.883;0.1;0.083;0.161	D	0.85220	0.1026	9	0.87932	D	0	.	6.6848	0.23138	0.175:0.7358:0.0:0.0892	rs1799945;rs17515604;rs60366842;rs1799945	63;63;63;63;40;63	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	D	40;63;63;63;63;63;63;63	ENSP00000380217:H40D;ENSP00000313776:H63D;ENSP00000417404:H63D;ENSP00000419725:H63D;ENSP00000337819:H63D;ENSP00000420802:H63D;ENSP00000311698:H63D	ENSP00000311698:H63D	H	+	1	0	HFE	26199158	0.284000	0.24287	0.002000	0.10522	0.964000	0.63967	0.952000	0.29149	0.785000	0.33685	0.655000	0.94253	CAT	C|0.898;G|0.102	0.102	strong		0.522	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			G	26091179	C	G	26091179	3	3	23	1	0	0	0	0	1	0	0	0	7081	826	29	4	193	4	HFE	6	26091179	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45442	26091179	145023888	1536	17992	375	2								
HFE	3077	hgsc.bcm.edu	37	chr6	26091185	26091185	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgtgttctatgatcatgagAgtcgccgtgtggagccccga					rs1800730	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26091185A>T	ENST00000357618.5	+	2	315	c.193A>T	c.(193-195)Agt>Tgt	p.S65C	HFE_ENST00000317896.7_Missense_Mutation_p.S65C|HFE_ENST00000336625.8_Missense_Mutation_p.S65C|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.S42C|HFE_ENST00000309234.6_Missense_Mutation_p.S65C|HFE_ENST00000461397.1_Missense_Mutation_p.S65C|HFE_ENST00000470149.1_Missense_Mutation_p.S65C|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000349999.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	65	Alpha-1.		S -> C (in HFE1; mild form; dbSNP:rs1800730). {ECO:0000269|PubMed:10194428, ECO:0000269|PubMed:10575540, ECO:0000269|PubMed:12542741, ECO:0000269|PubMed:14633868, ECO:0000269|Ref.25}.		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATCATGAGAGTCGCCGTGT	0.517									Hemochromatosis				A|||	20	0.00399361	0.0	0.0043	5008	,	,		20230	0.0		0.0159	False		,,,				2504	0.001				p.S65C		Atlas-SNP	.											.	HFE	37	.	0			c.A193T	GRCh37	CM990718	HFE	M	rs1800730	PASS	.	A	CYS/SER,CYS/SER,CYS/SER,CYS/SER,,,CYS/SER,,	14,4392	20.2+/-43.8	0,14,2189	135	124	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	193,193,193,193,,,124,,	4.1	1	6	dbSNP_89	128	130,8470	66.0+/-128.3	2,126,4172	yes	missense,missense,missense,missense,intron,intron,missense,intron,intron	HFE	NM_000410.3,NM_139003.2,NM_139004.2,NM_139006.2,NM_139007.2,NM_139008.2,NM_139009.2,NM_139010.2,NM_139011.2	112,112,112,112,,,112,,	2,140,6361	TT,TA,AA		1.5116,0.3177,1.1072	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,,	65/349,65/243,65/257,65/335,,,42/326,,	26091185	144,12862	2203	4300	6503	SO:0001583	missense	3077	exon2	Familial Cancer Database		CATGAGAGTCGCC		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.193A>T	6.37:g.26091185A>T	ENSP00000417404:p.Ser65Cys	Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	237	105	0.443038	NM_139006	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	16	0.007326007326007326	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	13	0.017150395778364115	A	19.87	3.907261	0.72868	0.003177	0.015116	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.90620	-2.7;5.72;-2.7;-2.7;5.72;-2.7;-2.7	5.3	4.13	0.48395	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.569228	0.17597	N	0.168562	D	0.93523	0.7933	M	0.86864	2.845	0.37344	A	0.910532	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.993;0.999	D;D;D;D;P;D	0.91635	0.95;0.999;0.999;0.917;0.765;0.95	D	0.93126	0.6529	9	0.87932	D	0	.	7.6454	0.28316	0.9059:0.0:0.0941:0.0	rs1800730;rs28934888	65;65;65;65;42;65	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	C	42;65;65;65;65;65;65;65	ENSP00000380217:S42C;ENSP00000313776:S65C;ENSP00000417404:S65C;ENSP00000419725:S65C;ENSP00000337819:S65C;ENSP00000420802:S65C;ENSP00000311698:S65C	ENSP00000311698:S65C	S	+	1	0	HFE	26199164	0.996000	0.38824	0.998000	0.56505	0.939000	0.58152	1.962000	0.40442	1.028000	0.39785	0.533000	0.62120	AGT	A|0.990;T|0.010	0.010	strong		0.517	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			T	26091185	A	T	26091185	3	4	23	1	0	0	0	0	1	0	0	0	7081	304	11	5	199	5	HFE	6	26091185	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6	26091185	145023882	1537	17993	375	2								
HIST1H1T	3010	hgsc.bcm.edu	37	chr6	26108168	26108168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgttcctgtgacactgaaaGggcctcggtgatcaacttgg	12	10	1	3	rs2051542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26108168G>A	ENST00000338379.4	-	1	196	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	52	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.		L -> F (in dbSNP:rs2051542).		binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GACACTGAAAGGGCCTCGGTG	0.527													G|||	1087	0.217053	0.0734	0.2133	5008	,	,		19174	0.5506		0.0865	False		,,,				2504	0.2045				p.L52F		Atlas-SNP	.											.	HIST1H1T	40	.	0			c.C154T						PASS	.	G	PHE/LEU	396,4010		21,354,1828	121	102	108		154	0.1	0	6	dbSNP_94	108	539,8061		14,511,3775	yes	missense	HIST1H1T	NM_005323.3	22	35,865,5603	AA,AG,GG		6.2674,8.9877,7.189	probably-damaging	52/208	26108168	935,12071	2203	4300	6503	SO:0001583	missense	3010	exon1			CTGAAAGGGCCTC	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.154C>T	6.37:g.26108168G>A	ENSP00000341214:p.Leu52Phe	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	177	80	0.451977	NM_005323	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	531	0.24313186813186813	45	0.09146341463414634	55	0.15193370165745856	355	0.6206293706293706	76	0.10026385224274406	.	16.65	3.183196	0.57800	0.089877	0.062674	ENSG00000187475	ENST00000338379	T	0.31247	1.5	5.35	0.107	0.14544	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.384631	0.25030	N	0.033689	T	0.35098	0.0920	M	0.70595	2.14	0.58432	P	5.999999999950489E-6	D	0.69078	0.997	D	0.70227	0.968	T	0.32241	-0.9914	9	0.87932	D	0	-8.8048	8.9725	0.35915	0.1617:0.5443:0.294:0.0	rs2051542;rs3799376;rs59662229;rs2051542	52	P22492	H1T_HUMAN	F	52	ENSP00000341214:L52F	ENSP00000341214:L52F	L	-	1	0	HIST1H1T	26216147	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	0.451000	0.21779	0.088000	0.17205	-0.176000	0.13171	CTT	G|0.838;A|0.162	0.162	strong		0.527	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		A	26108168	G	A	26108168	3	1	23	1	0	0	0	0	1	0	0	0	7127	1000	35	2	473	2	HIST1H1T	6	26108168	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16983	26108168	145006899	1538	17994										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26157009	26157009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcggccaaggccaagaagCcagcaggagcggcgaagaag	17	11	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26157009C>T	ENST00000304218.3	+	1	451	c.391C>T	c.(391-393)Cca>Tca	p.P131S	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	131					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCAAGAAGCCAGCAGGAGC	0.642																																					p.P131S		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.C391T						PASS	.						16	22	20					6																	26157009		2201	4297	6498	SO:0001583	missense	3008	exon1			AAGAAGCCAGCAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.391C>T	6.37:g.26157009C>T	ENSP00000307705:p.Pro131Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	109	35	0.321101	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	3.113	-0.182313	0.06340	.	.	ENSG00000168298	ENST00000304218	T	0.25579	1.79	5.51	-0.293	0.12835	.	0.186307	0.47455	N	0.000233	T	0.04634	0.0126	L	0.38175	1.15	0.48975	D	0.999731	B	0.10296	0.003	B	0.08055	0.003	T	0.29731	-1.0002	10	0.11182	T	0.66	0.2785	3.53	0.07773	0.114:0.485:0.2269:0.1741	.	131	P10412	H14_HUMAN	S	131	ENSP00000307705:P131S	ENSP00000307705:P131S	P	+	1	0	HIST1H1E	26264988	0.865000	0.29922	0.579000	0.28588	0.041000	0.13682	0.334000	0.19787	0.052000	0.16007	0.561000	0.74099	CCA	.	.	none		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		T	26157009	C	T	26157009	3	4	23	1	0	0	0	0	1	0	0	0	7126	739	26	2	393	2	HIST1H1E	6	26157009	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	48841	26157009	144958058	1539	17995										
HIST1H4G	8369	hgsc.bcm.edu	37	chr6	26247198	26247198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttccggccttgccccgaAcagacatgataaacaagtca	7	13	1	2	rs41266821	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26247198A>G	ENST00000244537.4	-	1	61	c.8T>C	c.(7-9)gTt>gCt	p.V3A		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	3						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGCCCCGAACAGACATGAT	0.458													a|||	420	0.0838658	0.028	0.0951	5008	,	,		6130	0.0337		0.1491	False		,,,				2504	0.136				p.V3A		Atlas-SNP	.											.	HIST1H4G	18	.	0			c.T8C						PASS	.	A	ALA/VAL	217,4189		5,207,1991	39	37	37		8	2.5	0.2	6	dbSNP_127	37	1120,7480		63,994,3243	yes	missense	HIST1H4G	NM_003547.2	64	68,1201,5234	GG,GA,AA		13.0233,4.9251,10.2799	benign	3/99	26247198	1337,11669	2203	4300	6503	SO:0001583	missense	8369	exon1			CCCCGAACAGACA	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.8T>C	6.37:g.26247198A>G	ENSP00000244537:p.Val3Ala	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	49	23	0.469388	NM_003547		Missense_Mutation	SNP	ENST00000244537.4	37	CCDS4599.1	177	0.08104395604395605	13	0.026422764227642278	43	0.11878453038674033	15	0.026223776223776224	106	0.13984168865435356	.	10.77	1.445080	0.25987	0.049251	0.130233	ENSG00000124578	ENST00000244537	.	.	.	3.34	2.46	0.29980	Histone-fold (2);	.	.	.	.	T	0.26304	0.0642	.	.	.	0.35467	P	0.203009	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	6	0.62326	D	0.03	.	11.7724	0.51967	0.1786:0.8214:0.0:0.0	rs41266821;rs52800328	3	Q99525	H4G_HUMAN	A	3	.	ENSP00000244537:V3A	V	-	2	0	HIST1H4G	26355177	0.998000	0.40836	0.181000	0.23098	0.001000	0.01503	4.149000	0.58091	0.726000	0.32339	-0.318000	0.08688	GTT	A|0.903;G|0.097	0.097	strong		0.458	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		G	26247198	A	G	26247198	3	3	23	1	0	0	0	0	1	0	0	0	7171	43	2	2	292	2	HIST1H4G	6	26247198	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	90189	26247198	144867869	1540	17996										
HIST1H4H	8365	hgsc.bcm.edu	37	chr6	26285503	26285503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggtcttgcgtttggcgtgCtctgtgtaagtgacagcgtc	14	9	2	1	rs41266829	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26285503C>T	ENST00000377727.1	-	1	234	c.225G>A	c.(223-225)gaG>gaA	p.E75E	HIST1H4H_ENST00000289352.1_Silent_p.E75E	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	75					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GTTTGGCGTGCTCTGTGTAAG	0.547										HNSCC(76;0.23)			C|||	497	0.0992412	0.0953	0.1153	5008	,	,		20440	0.0506		0.16	False		,,,				2504	0.0808				p.E75E		Atlas-SNP	.											HIST1H4H,colon,carcinoma,0,1	HIST1H4H	16	1	0			c.G225A						PASS	.	C		468,3938		30,408,1765	180	145	157		225	3.5	1	6	dbSNP_127	157	1297,7303		81,1135,3084	no	coding-synonymous	HIST1H4H	NM_003543.3		111,1543,4849	TT,TC,CC		15.0814,10.6219,13.5707		75/104	26285503	1765,11241	2203	4300	6503	SO:0001819	synonymous_variant	8365	exon1			GGCGTGCTCTGTG	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.225G>A	6.37:g.26285503C>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	156	78	0.5	NM_003543	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377727.1	37	CCDS4604.1																																																																																			C|0.869;T|0.131	0.131	strong		0.547	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		T	26285503	C	T	26285503	2	4	23	1	0	0	0	0	0	0	0	1	7172	796	28	2		2	HIST1H4H	6	26285503	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38305	26285503	144829564	1541	17997										
BTN2A2	10385	hgsc.bcm.edu	37	chr6	26384092	26384092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttctccctgccagcctccCtcctcctcctcctgctcctc	3	24	1	0	rs546542545		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26384092C>T	ENST00000356709.4	+	2	154	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	BTN2A2_ENST00000469230.1_Missense_Mutation_p.L15F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000432533.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000482536.1_Missense_Mutation_p.L15F|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L15F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	15					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCCAGCCTCcctcctcctcct	0.587																																					p.L15F		Atlas-SNP	.											BTN2A2_ENST00000432533,bladder,carcinoma,-1,2	BTN2A2	87	2	0			c.C43T						scavenged	.						191	138	156					6																	26384092		2203	4300	6503	SO:0001583	missense	10385	exon2			GCCTCCCTCCTCC	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.43C>T	6.37:g.26384092C>T	ENSP00000349143:p.Leu15Phe	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	125	6	0.048	NM_181531	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.412871	0.42817	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000494184;ENST00000483410	T;T;T;T;T;T;D;T;T;T	0.90444	3.76;1.1;0.43;4.24;3.36;-0.21;-2.67;1.1;2.29;3.8	2.01	1.1	0.20463	.	0.656368	0.12607	N	0.454165	T	0.62085	0.2399	N	0.08118	0	0.21675	N	0.999591	B;B;B;B;B;B	0.24132	0.003;0.008;0.098;0.014;0.003;0.003	B;B;B;B;B;B	0.15052	0.002;0.003;0.012;0.006;0.002;0.002	T	0.57562	-0.7790	10	0.87932	D	0	.	4.8159	0.13367	0.0:0.8071:0.0:0.1929	.	15;15;15;15;15;15	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	F	15	ENSP00000417472:L15F;ENSP00000349143:L15F;ENSP00000337117:L15F;ENSP00000418857:L15F;ENSP00000419226:L15F;ENSP00000419451:L15F;ENSP00000394241:L15F;ENSP00000399308:L15F;ENSP00000417511:L15F;ENSP00000418176:L15F	ENSP00000337117:L15F	L	+	1	0	BTN2A2	26492071	0.000000	0.05858	0.368000	0.25939	0.580000	0.36256	-0.390000	0.07332	0.383000	0.24910	0.298000	0.19748	CTC	.	.	none		0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			T	26384092	C	T	26384092	3	4	23	1	0	0	0	0	1	0	0	0	1561	681	24	2	45	2	BTN2A2	6	26384092	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	98589	26384092	144730975	1542	17998										
BTN2A2	10385	hgsc.bcm.edu	37	chr6	26388405	26388405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttccatcgctgatgctgacGgcctcttcatggtcaccaca	8	14	3	2	rs62617839	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:26388405G>A	ENST00000356709.4	+	4	718	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	BTN2A2_ENST00000469230.1_Missense_Mutation_p.G203S|BTN2A2_ENST00000416795.2_Missense_Mutation_p.G203S|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.G87S	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	203	Ig-like C2-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGATGCTGACGGCCTCTTCAT	0.567													G|||	225	0.0449281	0.0575	0.062	5008	,	,		20389	0.005		0.0537	False		,,,				2504	0.0481				p.G203S		Atlas-SNP	.											.	BTN2A2	87	.	0			c.G607A						PASS	.	G	SER/GLY,SER/GLY,,,SER/GLY,SER/GLY	272,4134	153.3+/-186.9	9,254,1940	155	127	136		607,607,,,607,259	3.2	0.3	6	dbSNP_129	136	483,8117	142.2+/-198.4	11,461,3828	yes	missense,missense,intron,intron,missense,missense	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2	56,56,,,56,56	20,715,5768	AA,AG,GG		5.6163,6.1734,5.805	possibly-damaging,possibly-damaging,,,possibly-damaging,possibly-damaging	203/524,203/337,,,203/524,87/408	26388405	755,12251	2203	4300	6503	SO:0001583	missense	10385	exon4			GCTGACGGCCTCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.607G>A	6.37:g.26388405G>A	ENSP00000349143:p.Gly203Ser	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	138	58	0.42029	NM_001197238	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	97	0.044413919413919416	32	0.06504065040650407	26	0.0718232044198895	1	0.0017482517482517483	38	0.05013192612137203	g	18.11	3.550762	0.65311	0.061734	0.056163	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.11	3.24	0.37175	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.113353	0.40144	N	0.001170	T	0.20170	0.0485	M	0.64997	1.995	0.33613	P	0.39618200000000003	D;D;D;P	0.76494	0.999;0.979;0.99;0.928	P;P;P;P	0.62740	0.906;0.63;0.615;0.595	T	0.03545	-1.1026	9	0.54805	T	0.06	.	9.6411	0.39839	0.1072:0.0:0.8928:0.0	rs62617839	87;203;87;203	B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;BT2A2_HUMAN	S	203;203;87;203;87;203;87	ENSP00000417472:G203S;ENSP00000349143:G203S;ENSP00000337117:G87S;ENSP00000418857:G203S;ENSP00000419226:G87S;ENSP00000399308:G203S;ENSP00000418176:G87S	ENSP00000337117:G87S	G	+	1	0	BTN2A2	26496384	0.999000	0.42202	0.302000	0.25058	0.047000	0.14425	3.881000	0.56152	0.731000	0.32448	0.454000	0.30748	GGC	G|0.941;A|0.059	0.059	strong		0.567	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			A	26388405	G	A	26388405	3	1	23	1	0	0	0	0	1	0	0	0	1561	1116	39	1	617	1	BTN2A2	6	26388405	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4313	26388405	144726662	1543	17999										
HIST1H2AH	85235	hgsc.bcm.edu	37	chr6	27115084	27115084	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcggtgctggagtacctGaccgctgagatcctggagct	15	11	0	2	rs147640519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:27115084G>C	ENST00000377459.1	+	1	224	c.177G>C	c.(175-177)ctG>ctC	p.L59L	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGGAGTACCTGACCGCTGAGA	0.657													G|||	7	0.00139776	0.0	0.0014	5008	,	,		16644	0.0		0.005	False		,,,				2504	0.001				p.L59L		Atlas-SNP	.											.	HIST1H2AH	26	.	0			c.G177C						PASS	.	G		5,4401	9.9+/-24.2	0,5,2198	59	59	59		177	1	1	6	dbSNP_134	59	87,8513	49.4+/-109.1	0,87,4213	no	coding-synonymous	HIST1H2AH	NM_080596.1		0,92,6411	CC,CG,GG		1.0116,0.1135,0.7074		59/129	27115084	92,12914	2203	4300	6503	SO:0001819	synonymous_variant	85235	exon1			GTACCTGACCGCT	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.177G>C	6.37:g.27115084G>C		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	218	113	0.518349	NM_080596		Silent	SNP	ENST00000377459.1	37	CCDS4622.1																																																																																			G|0.994;C|0.006	0.006	strong		0.657	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		C	27115084	G	C	27115084	2	2	23	1	0	0	0	0	0	0	0	1	7134	1277	45	4		4	HIST1H2AH	6	27115084	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	726679	27115084	143999983	1544	18000										
ZNF184	7738	hgsc.bcm.edu	37	chr6	27425185	27425185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacatccttgaaagtcaccgCttcctgaaataccaaacata	4	13	1	2	rs386698292|rs1883216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:27425185C>A	ENST00000211936.6	-	4	363	c.79G>T	c.(79-81)Gcg>Tcg	p.A27S	ZNF184_ENST00000377419.1_Missense_Mutation_p.A27S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	27			A -> S (in dbSNP:rs1883216). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9073517}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAAGTCACCGCTTCCTGAAAT	0.423													A|||	3096	0.618211	0.531	0.6715	5008	,	,		18470	0.5774		0.6451	False		,,,				2504	0.7127				p.A27S		Atlas-SNP	.											ZNF184,NS,carcinoma,+2,1	ZNF184	89	1	0			c.G79T						scavenged	.	A	SER/ALA	2355,2051	567.0+/-382.0	623,1109,471	101	100	101		79	3.2	1	6	dbSNP_92	101	5454,3146	477.8+/-369.7	1755,1944,601	yes	missense	ZNF184	NM_007149.2	99	2378,3053,1072	AA,AC,CC		36.5814,46.5502,39.9585	benign	27/752	27425185	7809,5197	2203	4300	6503	SO:0001583	missense	7738	exon4			TCACCGCTTCCTG	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.79G>T	6.37:g.27425185C>A	ENSP00000211936:p.Ala27Ser	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	111	62	0.558559	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	1288	0.5897435897435898	253	0.5142276422764228	237	0.6546961325966851	315	0.5506993006993007	483	0.637203166226913	A	2.806	-0.248095	0.05867	0.534498	0.634186	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.00730	5.77;5.77	4.32	3.17	0.36434	Krueppel-associated box (1);	0.000000	0.39407	N	0.001372	T	0.00073	0.0002	N	0.00661	-1.28	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16778	-1.0391	9	0.02654	T	1	.	3.7677	0.08629	0.6192:0.1894:0.1913:0.0	rs1883216;rs17845715;rs17858663;rs52830797;rs58634439;rs1883216	27	Q99676	ZN184_HUMAN	S	27	ENSP00000211936:A27S;ENSP00000366636:A27S	ENSP00000211936:A27S	A	-	1	0	ZNF184	27533164	0.914000	0.31030	0.996000	0.52242	0.963000	0.63663	1.456000	0.35201	0.449000	0.26747	-0.256000	0.11100	GCG	C|0.387;A|0.613	0.613	strong		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		A	27425185	C	A	27425185	3	1	23	1	0	0	0	0	1	0	0	0	17748	797	28	4	2188	4	ZNF184	6	27425185	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	310101	27425185	143689882	1545	18001										
NKAPL	222698	hgsc.bcm.edu	37	chr6	28227436	28227436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgtatagtggatatcgctAccatcgtcactgctatgcag	9	11	1	0	rs12000	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:28227436A>G	ENST00000343684.3	+	1	339	c.287A>G	c.(286-288)tAc>tGc	p.Y96C	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	96			Y -> C (in dbSNP:rs12000). {ECO:0000269|PubMed:15489334}.							breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGATATCGCTACCATCGTCAC	0.572													A|||	2217	0.442692	0.6959	0.353	5008	,	,		19456	0.4444		0.2167	False		,,,				2504	0.3947				p.Y96C		Atlas-SNP	.											.	NKAPL	72	.	0			c.A287G						PASS	.	A	CYS/TYR	2555,1851	634.6+/-396.2	755,1045,403	61	61	61		287	1.9	0	6	dbSNP_52	61	1757,6843	317.8+/-313.4	171,1415,2714	yes	missense	NKAPL	NM_001007531.1	194	926,2460,3117	GG,GA,AA		20.4302,42.0109,33.1539	benign	96/403	28227436	4312,8694	2203	4300	6503	SO:0001583	missense	222698	exon1			ATCGCTACCATCG	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.287A>G	6.37:g.28227436A>G	ENSP00000345716:p.Tyr96Cys	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	77	31	0.402597	NM_001007531	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	883	0.4043040293040293	350	0.7113821138211383	135	0.3729281767955801	248	0.43356643356643354	150	0.19788918205804748	A	10.43	1.347619	0.24426	0.579891	0.204302	ENSG00000189134	ENST00000343684	T	0.14516	2.5	4.31	1.87	0.25490	.	0.882652	0.09597	N	0.780706	T	0.02494	0.0076	N	0.22421	0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.43734	-0.9373	9	0.39692	T	0.17	-1.0519	3.6366	0.08151	0.7037:0.0:0.1045:0.1918	rs12000;rs1133598;rs1679733;rs3195472;rs3734565;rs52814218;rs56901220;rs12000	96	Q5M9Q1	NKAPL_HUMAN	C	96	ENSP00000345716:Y96C	ENSP00000345716:Y96C	Y	+	2	0	NKAPL	28335415	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.091000	0.11146	0.302000	0.22762	0.533000	0.62120	TAC	A|0.613;G|0.387	0.387	strong		0.572	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			G	28227436	A	G	28227436	3	3	23	1	0	0	0	0	1	0	0	0	10440	391	14	2	289	2	NKAPL	6	28227436	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	802251	28227436	142887631	1546	18002										
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364615	29364615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggagccgttctgatgattGtcatctccgatcctagactc	9	11	3	3	rs9257834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29364615G>T	ENST00000383555.2	+	1	200	c.139G>T	c.(139-141)Gtc>Ttc	p.V47F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	47			V -> F (in dbSNP:rs9257834).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCTGATGATTGTCATCTCCGA	0.463													G|||	1597	0.31889	0.1921	0.3458	5008	,	,		20479	0.3641		0.4523	False		,,,				2504	0.2873				p.V47F		Atlas-SNP	.											.	OR12D2	42	.	0			c.G139T						PASS	.	G	PHE/VAL	668,2352		75,518,917	127	133	131		139	3.2	0	6	dbSNP_118	131	2411,3007		536,1339,834	yes	missense	OR12D2	NM_013936.3	50	611,1857,1751	TT,TG,GG		44.4998,22.1192,36.4897	probably-damaging	47/308	29364615	3079,5359	1510	2709	4219	SO:0001583	missense	26529	exon1			ATGATTGTCATCT		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.139G>T	6.37:g.29364615G>T	ENSP00000373047:p.Val47Phe	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	200	198	0.99	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	788	0.3608058608058608	102	0.2073170731707317	123	0.3397790055248619	208	0.36363636363636365	355	0.4683377308707124	G	10.62	1.402237	0.25291	0.221192	0.444998	ENSG00000168787	ENST00000383555	T	0.03496	3.91	4.07	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000073	T	0.07503	0.0189	M	0.87456	2.885	0.80722	P	0.0	D	0.62365	0.991	P	0.60345	0.873	T	0.02698	-1.1122	9	0.72032	D	0.01	.	5.9657	0.19325	0.0988:0.0:0.7097:0.1915	rs9257834;rs59373671;rs9257834	47	P58182	O12D2_HUMAN	F	47	ENSP00000373047:V47F	ENSP00000373047:V47F	V	+	1	0	OR12D2	29472594	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.520000	0.06252	0.897000	0.36392	0.411000	0.27672	GTC	G|0.636;T|0.364	0.364	strong		0.463	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			T	29364615	G	T	29364615	3	4	23	1	0	0	0	0	1	0	0	0	10931	1377	48	4	141	4	OR12D2	6	29364615	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1137179	29364615	141750452	1547	18003			7	76		6	5	627	N	T_G_C	3.366698e-06
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364643	29364643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgatcctagactccattcccTtatgtatttcttcctgggaa	6	12	1	1	rs4987411	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29364643T>C	ENST00000383555.2	+	1	228	c.167T>C	c.(166-168)cTt>cCt	p.L56P	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	56			L -> P (in dbSNP:rs4987411).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTCCATTCCCTTATGTATTTC	0.453													C|||	1597	0.31889	0.1921	0.3458	5008	,	,		21557	0.3641		0.4523	False		,,,				2504	0.2873				p.L56P		Atlas-SNP	.											.	OR12D2	42	.	0			c.T167C						PASS	.	C	PRO/LEU	663,2357		75,513,922	113	115	114		167	3.2	0.1	6	dbSNP_113	114	2407,3011		535,1337,837	yes	missense	OR12D2	NM_013936.3	98	610,1850,1759	CC,CT,TT		44.426,21.9536,36.383	benign	56/308	29364643	3070,5368	1510	2709	4219	SO:0001583	missense	26529	exon1			ATTCCCTTATGTA		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.167T>C	6.37:g.29364643T>C	ENSP00000373047:p.Leu56Pro	Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	260	257	0.988462	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	787	0.36034798534798534	101	0.20528455284552846	123	0.3397790055248619	208	0.36363636363636365	355	0.4683377308707124	C	0.008	-1.929605	0.00488	0.219536	0.44426	ENSG00000168787	ENST00000383555	T	0.00000	10.38	4.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000019	T	0.00012	0.0000	N	0.00002	-3.6	0.20307	P	0.9999180459	B	0.02656	0.0	B	0.01281	0.0	T	0.48885	-0.8995	9	0.02654	T	1	.	9.8586	0.41101	0.0:0.8292:0.0:0.1708	rs4987411;rs56924123;rs4987411	56	P58182	O12D2_HUMAN	P	56	ENSP00000373047:L56P	ENSP00000373047:L56P	L	+	2	0	OR12D2	29472622	1.000000	0.71417	0.108000	0.21378	0.018000	0.09664	5.299000	0.65716	0.387000	0.25024	-0.473000	0.04963	CTT	T|0.630;C|0.370	0.370	strong		0.453	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			C	29364643	T	C	29364643	3	2	23	1	0	0	0	0	1	0	0	0	10931	1609	56	3	169	3	OR12D2	6	29364643	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	28	29364643	141750424	1548	18004			7	76		6	5	627	N	T_G_C	3.366698e-06
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364815	29364815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacggagtccatgttgttCgccgtgatggcatttgacct	12	10	0	2	rs2073154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29364815C>G	ENST00000383555.2	+	1	400	c.339C>G	c.(337-339)ttC>ttG	p.F113L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	113			F -> L (in dbSNP:rs2073154).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CCATGTTGTTCGCCGTGATGG	0.493													G|||	1598	0.319089	0.1921	0.3458	5008	,	,		21376	0.3641		0.4533	False		,,,				2504	0.2873				p.F113L		Atlas-SNP	.											.	OR12D2	42	.	0			c.C339G						PASS	.	G	LEU/PHE	670,2350		75,520,915	85	86	86		339	1	0	6	dbSNP_96	86	2409,3007		534,1341,833	yes	missense	OR12D2	NM_013936.3	22	609,1861,1748	GG,GC,CC		44.4793,22.1854,36.4983	benign	113/308	29364815	3079,5357	1510	2708	4218	SO:0001583	missense	26529	exon1			GTTGTTCGCCGTG		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.339C>G	6.37:g.29364815C>G	ENSP00000373047:p.Phe113Leu	Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	247	246	0.995951	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	787	0.36034798534798534	101	0.20528455284552846	123	0.3397790055248619	208	0.36363636363636365	355	0.4683377308707124	G	0	-2.845655	0.00067	0.221854	0.444793	ENSG00000168787	ENST00000383555	T	0.72394	-0.65	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	N	0.000302	T	0.04048	0.0113	N	0.00014	-2.9	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.02654	T	1	.	3.1878	0.06607	0.1594:0.3698:0.3452:0.1256	rs2073154;rs52828851;rs59971655;rs2073154	113	P58182	O12D2_HUMAN	L	113	ENSP00000373047:F113L	ENSP00000373047:F113L	F	+	3	2	OR12D2	29472794	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.355000	0.07671	-0.258000	0.09446	-0.980000	0.02579	TTC	C|0.628;G|0.372	0.372	strong		0.493	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			G	29364815	C	G	29364815	3	3	23	1	0	0	0	0	1	0	0	0	10931	883	31	4	341	4	OR12D2	6	29364815	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	172	29364815	141750252	1549	18005			7	76		6	5	627	N	T_G_C	3.366698e-06
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364835	29364835	+	Missense_Mutation	SNP	T	T	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccgtgatggcatttgaccTctctgtggctatctgcaagc					rs2073153	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29364835T>G	ENST00000383555.2	+	1	420	c.359T>G	c.(358-360)cTc>cGc	p.L120R	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	120			L -> R (in dbSNP:rs2073153).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCATTTGACCTCTCTGTGGCT	0.493													G|||	1597	0.31889	0.1921	0.3458	5008	,	,		21217	0.3641		0.4523	False		,,,				2504	0.2873				p.L120R		Atlas-SNP	.											.	OR12D2	42	.	0			c.T359G	GRCh37	CM035845	OR12D2	M	rs2073153	PASS	.	G	ARG/LEU	669,2353		75,519,917	94	94	94		359	3	0.9	6	dbSNP_96	94	2409,3009		534,1341,834	yes	missense	OR12D2	NM_013936.3	102	609,1860,1751	GG,GT,TT		44.4629,22.1377,36.4692	benign	120/308	29364835	3078,5362	1511	2709	4220	SO:0001583	missense	26529	exon1			TTGACCTCTCTGT		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.359T>G	6.37:g.29364835T>G	ENSP00000373047:p.Leu120Arg	Somatic	300	2	0.00666667		WXS	Illumina HiSeq	Phase_I	229	226	0.9869	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	787	0.36034798534798534	101	0.20528455284552846	123	0.3397790055248619	208	0.36363636363636365	355	0.4683377308707124	G	0.013	-1.637038	0.00806	0.221377	0.444629	ENSG00000168787	ENST00000383555	T	0.04809	3.55	3.94	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.200095	0.35772	N	0.002997	T	0.00144	0.0004	N	0.00000	-4.03	0.45295	P	0.0017089999999999606	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	9	0.02654	T	1	.	9.9552	0.41661	0.0:0.151:0.692:0.1569	rs2073153;rs58214000	120	P58182	O12D2_HUMAN	R	120	ENSP00000373047:L120R	ENSP00000373047:L120R	L	+	2	0	OR12D2	29472814	0.936000	0.31750	0.926000	0.36857	0.003000	0.03518	4.857000	0.62939	0.329000	0.23460	-0.982000	0.02568	CTC	T|0.650;G|0.350	0.350	strong		0.493	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			G	29364835	T	G	29364835	3	3	23	1	0	0	0	0	1	0	0	0	10931	1551	54	5	361	5	OR12D2	6	29364835	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20	29364835	141750232	1550	18006	376	2	7	76		6	5	627	N	T_G_C	3.366698e-06
OR12D2	26529	hgsc.bcm.edu	37	chr6	29364838	29364838	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgatggcatttgacctctCtgtggctatctgcaagccac					rs2073152	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29364838C>G	ENST00000383555.2	+	1	423	c.362C>G	c.(361-363)tCt>tGt	p.S121C	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	121			S -> C (in dbSNP:rs2073152).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTGACCTCTCTGTGGCTATC	0.498													C|||	873	0.174321	0.1044	0.1455	5008	,	,		21158	0.2381		0.3052	False		,,,				2504	0.089				p.S121C		Atlas-SNP	.											.	OR12D2	42	.	0			c.C362G						PASS	.	C	CYS/SER	400,2622		27,346,1138	95	95	95		362	1.4	1	6	dbSNP_96	95	1588,3830		251,1086,1372	no	missense	OR12D2	NM_013936.3	112	278,1432,2510	GG,GC,CC		29.3097,13.2363,23.5545	benign	121/308	29364838	1988,6452	1511	2709	4220	SO:0001583	missense	26529	exon1			ACCTCTCTGTGGC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.362C>G	6.37:g.29364838C>G	ENSP00000373047:p.Ser121Cys	Somatic	304	1	0.00328947		WXS	Illumina HiSeq	Phase_I	225	220	0.977778	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	500	0.22893772893772893	62	0.12601626016260162	56	0.15469613259668508	146	0.25524475524475526	236	0.3113456464379947	C	3.829	-0.036169	0.07497	0.132363	0.293097	ENSG00000168787	ENST00000383555	T	0.01369	4.97	3.94	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	0.312384	0.27807	N	0.017778	T	0.00210	0.0006	N	0.01257	-0.925	0.48901	P	2.7800000000000047E-4	B	0.24186	0.099	B	0.14578	0.011	T	0.47249	-0.9132	9	0.72032	D	0.01	.	4.3245	0.11034	0.4926:0.0982:0.0:0.4092	rs2073152;rs52828595;rs57122758;rs2073152	121	P58182	O12D2_HUMAN	C	121	ENSP00000373047:S121C	ENSP00000373047:S121C	S	+	2	0	OR12D2	29472817	0.118000	0.22208	0.954000	0.39281	0.013000	0.08279	0.184000	0.16939	0.093000	0.17368	-1.328000	0.01277	TCT	C|0.763;G|0.237	0.237	strong		0.498	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			G	29364838	C	G	29364838	3	3	23	1	0	0	0	0	1	0	0	0	10931	913	32	4	364	4	OR12D2	6	29364838	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3	29364838	141750229	1551	18007	376	2	7	76		6	5	627	N	T_G_C	3.366698e-06
OR12D2	26529	hgsc.bcm.edu	37	chr6	29365241	29365241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttctatgcacctgttctTttcacctatatccatcctgc	3	14	3	0	rs2073150	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29365241T>C	ENST00000383555.2	+	1	826	c.765T>C	c.(763-765)ctT>ctC	p.L255L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CACCTGTTCTTTTCACCTATA	0.458													C|||	1651	0.329673	0.2254	0.3588	5008	,	,		21296	0.3641		0.4533	False		,,,				2504	0.2873				p.L255L		Atlas-SNP	.											.	OR12D2	42	.	0			c.T765C						PASS	.	C		768,2254		96,576,839	212	210	210		765	-1.6	0	6	dbSNP_96	210	2419,2997		538,1343,827	no	coding-synonymous	OR12D2	NM_013936.3		634,1919,1666	CC,CT,TT		44.664,25.4136,37.7696		255/308	29365241	3187,5251	1511	2708	4219	SO:0001819	synonymous_variant	26529	exon1			TGTTCTTTTCACC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.765T>C	6.37:g.29365241T>C		Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	280	280	1	NM_013936	B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	CCDS4659.1																																																																																			T|0.623;C|0.377	0.377	strong		0.458	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			C	29365241	T	C	29365241	2	2	23	1	0	0	0	0	0	0	0	1	10931	1828	64	2		2	OR12D2	6	29365241	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	403	29365241	141749826	1552	18008			7	76		6	5	627	N	T_G_C	3.366698e-06
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910335	29910335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccccagacgccgaggatggCcgtcatggcgccccgaaccc	12	18	1	1	rs200058378		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29910335C>T	ENST00000396634.1	+	3	346	c.5C>T	c.(4-6)gCc>gTc	p.A2V	HLA-A_ENST00000376806.5_Missense_Mutation_p.A2V|HLA-A_ENST00000376802.2_Missense_Mutation_p.A2V|HLA-A_ENST00000376809.5_Missense_Mutation_p.A2V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	2					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGAGGATGGCCGTCATGGCG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A2V		Atlas-SNP	.											HLA-A,NS,carcinoma,-1,1	HLA-A	89	1	0			c.C5T						scavenged	.						36	38	37					6																	29910335		2201	4296	6497	SO:0001583	missense	3105	exon1	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GGATGGCCGTCAT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.5C>T	6.37:g.29910335C>T	ENSP00000379873:p.Ala2Val	Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	155	5	0.0322581	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	8.183	0.794292	0.16327	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00662	5.94;5.93;5.94;5.94	2.6	-4.04	0.04010	.	.	.	.	.	T	0.00552	0.0018	L	0.27053	0.805	0.09310	N	1	D;B;D;B	0.76494	0.999;0.003;0.997;0.001	D;B;D;B	0.75484	0.986;0.014;0.986;0.014	T	0.50065	-0.8871	9	0.56958	D	0.05	.	4.6272	0.12484	0.4071:0.1733:0.4196:0.0	.	2;2;2;2	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	V	2	ENSP00000379873:A2V;ENSP00000366002:A2V;ENSP00000366005:A2V;ENSP00000365998:A2V	ENSP00000348012:A2V	A	+	2	0	HLA-A	30018314	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.890000	0.01613	-0.952000	0.03649	-0.531000	0.04308	GCC	C|0.999;T|0.001	0.001	weak		0.672	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29910335	C	T	29910335	3	4	23	1	0	0	0	0	1	0	0	0	7195	739	26	2	7	2	HLA-A	6	29910335	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	545094	29910335	141204732	1553	18009			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910562	29910562	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgaggtatttcttcacAtccgtgtcccggcccggccg	10	15	2	1	rs281864725|rs1059418	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29910562A>C	ENST00000396634.1	+	4	443	c.102A>C	c.(100-102)acA>acC	p.T34T	HLA-A_ENST00000376806.5_Silent_p.T34T|HLA-A_ENST00000376802.2_Silent_p.T34T|HLA-A_ENST00000376809.5_Silent_p.T34T			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	34	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATTTCTTCACATCCGTGTCCC	0.721									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	1002	0.20008	0.1641	0.1182	5008	,	,		13677	0.3284		0.1282	False		,,,				2504	0.2485				p.T34T		Atlas-SNP	.											.	HLA-A	89	.	0			c.A102C						PASS	.						17	16	16					6																	29910562		2189	4275	6464	SO:0001819	synonymous_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CTTCACATCCGTG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.102A>C	6.37:g.29910562A>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	56	14	0.25	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			A|0.837;C|0.159;T|0.004	0.159	strong		0.721	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29910562	A	C	29910562	2	2	23	1	0	0	0	0	0	0	0	1	7195	204	8	5		5	HLA-A	6	29910562	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	227	29910562	141204505	1554	18010			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910604	29910604	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggagccccgcttcatcgcCgtgggctacgtggacgacac	15	14	1	0	rs12721675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29910604C>A	ENST00000396634.1	+	4	485	c.144C>A	c.(142-144)gcC>gcA	p.A48A	HLA-A_ENST00000376806.5_Silent_p.A48A|HLA-A_ENST00000376802.2_Silent_p.A48A|HLA-A_ENST00000376809.5_Silent_p.A48A			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	48	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCTTCATCGCCGTGGGCTACG	0.701									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	1915	0.382388	0.4425	0.4597	5008	,	,		15112	0.3899		0.3807	False		,,,				2504	0.2403				p.A48A		Atlas-SNP	.											HLA-A,NS,carcinoma,0,4	HLA-A	89	4	0			c.C144A						scavenged	.						33	29	30					6																	29910604		2201	4298	6499	SO:0001819	synonymous_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CATCGCCGTGGGC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.144C>A	6.37:g.29910604C>A		Somatic	118	2	0.0169492		WXS	Illumina HiSeq	Phase_I	112	14	0.125	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			A|0.361;C|0.639	0.361	strong		0.701	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910604	C	A	29910604	2	1	23	1	0	0	0	0	0	0	0	1	7195	639	23	4		4	HLA-A	6	29910604	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42	29910604	141204463	1555	18011			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911063	29911063	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggttctcacaccatccagaTaatgtatggctgcgacgtgg	11	10	1	1	rs386698553|rs199474484|rs199474485	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29911063T>G	ENST00000396634.1	+	5	703	c.362T>G	c.(361-363)aTa>aGa	p.I121R	HLA-A_ENST00000376806.5_Missense_Mutation_p.I121R|HLA-A_ENST00000376802.2_Missense_Mutation_p.I121R|HLA-A_ENST00000376809.5_Missense_Mutation_p.I121R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	121	Alpha-2.		M -> I (in allele A*31:03 and allele A*31:04).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCATCCAGATAATGTATGGC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			t|||	1562	0.311901	0.3003	0.3746	5008	,	,		10766	0.3294		0.3688	False		,,,				2504	0.2065				p.I121R		Atlas-SNP	.											.	HLA-A	89	.	0			c.T362G						PASS	.						21	17	19					6																	29911063		1482	2625	4107	SO:0001583	missense	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TCCAGATAATGTA	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.362T>G	6.37:g.29911063T>G	ENSP00000379873:p.Ile121Arg	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	105	38	0.361905	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	655	0.2999084249084249	141	0.2865853658536585	98	0.27071823204419887	166	0.2902097902097902	250	0.32981530343007914	.	5.687	0.311295	0.10789	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00008	9.58;9.58;9.58;9.58	3.78	-7.56	0.01322	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	7739.210000	0.00447	N	0.000092	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B;B;B	0.18166	0.006;0.011;0.006;0.026;0.006	B;B;B;B;B	0.25291	0.011;0.047;0.011;0.059;0.011	T	0.16364	-1.0405	8	0.02654	T	1	.	1.804	0.03077	0.1442:0.2086:0.2216:0.4257	rs3180267;rs17409608;rs41543913	121;121;121;121;121	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	121	ENSP00000379873:I121R;ENSP00000366002:I121R;ENSP00000366005:I121R;ENSP00000365998:I121R	ENSP00000348012:I121R	I	+	2	0	HLA-A	30019042	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.990000	0.00318	-2.187000	0.00759	-3.159000	0.00058	ATA	G|0.303;T|0.697	0.303	strong		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29911063	T	G	29911063	3	3	23	1	0	0	0	0	1	0	0	0	7195	1406	49	5	372	5	HLA-A	6	29911063	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	459	29911063	141204004	1556	18012			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911124	29911124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgggtaccggcaggacgcCtacgacggcaaggattacat	14	12	0	0	rs3173418	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29911124C>T	ENST00000396634.1	+	5	764	c.423C>T	c.(421-423)gcC>gcT	p.A141A	HLA-A_ENST00000376806.5_Silent_p.A141A|HLA-A_ENST00000376802.2_Silent_p.A141A|HLA-A_ENST00000376809.5_Silent_p.A141A			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	141	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGCAGGACGCCTACGACGGCA	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	294	0.0587061	0.1021	0.0259	5008	,	,		11867	0.0397		0.0477	False		,,,				2504	0.0542				p.A141A		Atlas-SNP	.											.	HLA-A	89	.	0			c.C423T						PASS	.	C		273,2731		32,209,1261	38	27	31		423	0.8	0	6	dbSNP_105	31	321,5089		20,281,2404	no	coding-synonymous	HLA-A	NM_002116.7		52,490,3665	TT,TC,CC		5.9335,9.0879,7.0597		141/366	29911124	594,7820	1502	2705	4207	SO:0001819	synonymous_variant	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GGACGCCTACGAC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.423C>T	6.37:g.29911124C>T		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	166	70	0.421687	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			C|0.930;T|0.070	0.070	strong		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29911124	C	T	29911124	2	4	23	1	0	0	0	0	0	0	0	1	7195	668	24	2		2	HLA-A	6	29911124	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	61	29911124	141203943	1557	18013			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911218	29911218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaccaagcgcaagtgggagGcggcccatgaggcggagcag	17	11	1	1	rs1059526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29911218G>A	ENST00000396634.1	+	5	858	c.517G>A	c.(517-519)Gcg>Acg	p.A173T	HLA-A_ENST00000376806.5_Missense_Mutation_p.A173T|HLA-A_ENST00000376802.2_Missense_Mutation_p.A173T|HLA-A_ENST00000376809.5_Missense_Mutation_p.A173T			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	173	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAAGTGGGAGGCGGCCCATGA	0.647									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	358	0.0714856	0.0991	0.0259	5008	,	,		12496	0.0913		0.0477	False		,,,				2504	0.0706				p.A173T		Atlas-SNP	.											.	HLA-A	89	.	0			c.G517A						PASS	.	G	THR/ALA	255,2763		14,227,1268	35	27	30		517	2.9	0.4	6	dbSNP_131	30	304,5106		8,288,2409	no	missense	HLA-A	NM_002116.7	58	22,515,3677	AA,AG,GG		5.6192,8.4493,6.6327	possibly-damaging	173/366	29911218	559,7869	1509	2705	4214	SO:0001583	missense	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TGGGAGGCGGCCC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.517G>A	6.37:g.29911218G>A	ENSP00000379873:p.Ala173Thr	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	162	73	0.450617	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	134	0.06135531135531135	53	0.10772357723577236	12	0.03314917127071823	37	0.06468531468531469	32	0.04221635883905013	.	4.586	0.108839	0.08780	0.084493	0.056192	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00010	9.41;9.41;9.41;9.41	3.78	2.86	0.33363	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.419310	0.16487	U	0.212300	T	0.00178	0.0005	M	0.87180	2.865	0.09310	N	0.999999	P;B;B;B;D;B;B	0.71674	0.944;0.0;0.004;0.002;0.998;0.0;0.0	D;B;B;B;D;B;B	0.81914	0.918;0.008;0.021;0.008;0.995;0.008;0.008	T	0.04870	-1.0921	10	0.48119	T	0.1	.	10.8567	0.46802	0.0:0.1941:0.8059:0.0	rs1059526;rs3173413;rs41555014	52;173;173;173;173;173;173	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	T	173	ENSP00000379873:A173T;ENSP00000366002:A173T;ENSP00000366005:A173T;ENSP00000365998:A173T	ENSP00000365998:A173T	A	+	1	0	HLA-A	30019197	0.000000	0.05858	0.418000	0.26571	0.074000	0.17049	-0.407000	0.07178	0.858000	0.35431	0.485000	0.47835	GCG	A|0.067;G|0.933	0.067	strong		0.647	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29911218	G	A	29911218	3	1	23	1	0	0	0	0	1	0	0	0	7195	1203	42	2	527	2	HLA-A	6	29911218	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	94	29911218	141203849	1558	18014			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912087	29912087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaccttccagaagtgggcgGctgtggtggtgccttctgga	16	9	1	1	rs1059632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29912087G>T	ENST00000396634.1	+	6	1149	c.808G>T	c.(808-810)Gct>Tct	p.A270S	HLA-A_ENST00000376806.5_Missense_Mutation_p.A270S|HLA-A_ENST00000376802.2_Missense_Mutation_p.A270S|HLA-A_ENST00000376809.5_Missense_Mutation_p.A270S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	270	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAAGTGGGCGGCTGTGGTGGT	0.627									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A270S		Atlas-SNP	.											.	HLA-A	89	.	0			c.G808T						PASS	.						31	31	31					6																	29912087		1510	2705	4215	SO:0001583	missense	3105	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TGGGCGGCTGTGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.808G>T	6.37:g.29912087G>T	ENSP00000379873:p.Ala270Ser	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	198	50	0.252525	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	8.494	0.862723	0.17178	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.69	2.8	0.32819	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.636476	0.12630	U	0.452285	T	0.17280	0.0415	L	0.55481	1.735	0.58432	P	1.999999999946489E-6	P;B;D;B;D;B;B	0.62365	0.823;0.0;0.991;0.0;0.991;0.0;0.0	D;B;D;B;D;B;B	0.91635	0.973;0.038;0.999;0.038;0.999;0.038;0.038	T	0.03157	-1.1066	9	0.49607	T	0.09	.	8.6885	0.34251	0.0:0.0:0.7739:0.2261	rs2231093;rs17840079	149;270;270;270;270;270;270	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	S	270;270;58;270;270	ENSP00000379873:A270S;ENSP00000366002:A270S;ENSP00000366005:A270S;ENSP00000365998:A270S	ENSP00000365998:A270S	A	+	1	0	HLA-A	30020066	0.000000	0.05858	0.652000	0.29579	0.832000	0.47134	0.401000	0.20948	0.870000	0.35726	0.485000	0.47835	GCT	G|0.860;T|0.140	0.140	strong		0.627	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912087	G	T	29912087	3	4	23	1	0	0	0	0	1	0	0	0	7195	1203	42	4	822	4	HLA-A	6	29912087	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	869	29912087	141202980	1559	18015			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912108	29912108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtggtggtgccttctggaGaggagcagagatacacctgc	15	9	1	2	rs2231095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29912108G>C	ENST00000396634.1	+	6	1170	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.E277Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.E277Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E277Q			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	277	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCTTCTGGAGAGGAGCAGAG	0.617									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	2247	0.448682	0.5129	0.4856	5008	,	,		18227	0.4167		0.4344	False		,,,				2504	0.3834				p.E277Q		Atlas-SNP	.											.	HLA-A	89	.	0			c.G829C						PASS	.						41	38	39					6																	29912108		1511	2707	4218	SO:0001583	missense	3105	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TCTGGAGAGGAGC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.829G>C	6.37:g.29912108G>C	ENSP00000379873:p.Glu277Gln	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	193	55	0.284974	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	1.666	-0.510311	0.04231	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	3.69	-1.97	0.07503	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.573958	0.13893	U	0.355507	T	0.01695	0.0054	.	.	.	0.53688	P	2.199999999996649E-5	P;B;B;B;B;B;B	0.43633	0.813;0.0;0.041;0.0;0.134;0.0;0.0	P;B;B;B;B;B;B	0.58520	0.84;0.002;0.12;0.002;0.12;0.004;0.001	T	0.36383	-0.9750	8	0.09843	T	0.71	.	7.9497	0.30008	0.103:0.4273:0.4697:0.0	rs2231095;rs9260183;rs16896035;rs41547214	156;277;277;277;277;277;277	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	Q	277;277;65;277;277	ENSP00000379873:E277Q;ENSP00000366002:E277Q;ENSP00000366005:E277Q;ENSP00000365998:E277Q	ENSP00000365998:E277Q	E	+	1	0	HLA-A	30020087	0.001000	0.12720	0.962000	0.40283	0.439000	0.31926	0.112000	0.15479	-0.204000	0.10235	-3.416000	0.00038	GAG	.	.	weak		0.617	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29912108	G	C	29912108	3	2	23	1	0	0	0	0	1	0	0	0	7195	943	33	4	843	4	HLA-A	6	29912108	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21	29912108	141202959	1560	18016			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912333	29912333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattgctggcctggttctcCttggagctgtgatcactgga	12	10	3	1	rs3179982	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29912333C>T	ENST00000396634.1	+	7	1293	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	HLA-A_ENST00000376806.5_Missense_Mutation_p.L318F|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.L318F			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	318					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTGGTTCTCCTTGGAGCTGT	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	2681	0.535343	0.6044	0.6023	5008	,	,		19739	0.4881		0.5229	False		,,,				2504	0.456				p.L318F		Atlas-SNP	.											.	HLA-A	89	.	0			c.C952T						PASS	.	C	PHE/LEU	1582,1436		428,726,355	109	103	105		952	-1	0	6	dbSNP_105	105	2518,2900		666,1186,857	no	missense	HLA-A	NM_002116.7	22	1094,1912,1212	TT,TC,CC		46.4747,47.5812,48.6012	probably-damaging	318/366	29912333	4100,4336	1509	2709	4218	SO:0001583	missense	3105	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTTCTCCTTGGAG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.952C>T	6.37:g.29912333C>T	ENSP00000379873:p.Leu318Phe	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	253	114	0.450593	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	1165	0.5334249084249084	307	0.6239837398373984	196	0.5414364640883977	273	0.4772727272727273	389	0.5131926121372031	.	3.888	-0.024559	0.07589	0.524188	0.464747	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00995	5.49;5.46;5.49	3.13	-0.987	0.10249	.	0.308416	0.17061	U	0.188566	T	0.01353	0.0044	.	.	.	0.80722	P	0.0	B;B;D;B;B	0.71674	0.0;0.0;0.998;0.0;0.0	B;B;D;B;B	0.81914	0.001;0.004;0.995;0.004;0.001	T	0.47222	-0.9134	8	0.87932	D	0	.	6.4125	0.21698	0.0:0.4707:0.0:0.5293	rs3179982;rs3205680;rs17405339;rs17851725;rs41552629	197;318;318;318;318	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	F	318	ENSP00000379873:L318F;ENSP00000366002:L318F;ENSP00000366005:L318F	ENSP00000366002:L318F	L	+	1	0	HLA-A	30020312	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.297000	0.01141	-0.224000	0.09928	-0.330000	0.08379	CTT	C|0.487;T|0.513	0.513	strong		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912333	C	T	29912333	3	4	23	1	0	0	0	0	1	0	0	0	7195	681	24	2	970	2	HLA-A	6	29912333	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	225	29912333	141202734	1561	18017			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29912348	29912348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctccttggagctgtgatcActggagctgtggtcgctgcc	13	11	2	1	rs1137078	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29912348A>G	ENST00000396634.1	+	7	1308	c.967A>G	c.(967-969)Act>Gct	p.T323A	HLA-A_ENST00000376806.5_Missense_Mutation_p.T323A|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.T323A			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	323					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGCTGTGATCACTGGAGCTGT	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	1292	0.257987	0.3994	0.2305	5008	,	,		19059	0.1984		0.1769	False		,,,				2504	0.2311				p.T323A		Atlas-SNP	.											.	HLA-A	89	.	0			c.A967G						PASS	.						111	106	108					6																	29912348		1511	2709	4220	SO:0001583	missense	3105	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGATCACTGGAG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.967A>G	6.37:g.29912348A>G	ENSP00000379873:p.Thr323Ala	Somatic	334	1	0.00299401		WXS	Illumina HiSeq	Phase_I	241	108	0.448133	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	527	0.2413003663003663	198	0.4024390243902439	87	0.24033149171270718	121	0.21153846153846154	121	0.15963060686015831	.	3.109	-0.183024	0.06340	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00648	6.02;5.99;6.02	3.09	-6.18	0.02085	.	0.889866	0.09141	U	0.842941	T	0.00241	0.0007	L	0.43701	1.375	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.002	T	0.39231	-0.9624	9	0.87932	D	0	.	5.3051	0.15799	0.3194:0.2957:0.3849:0.0	rs1137078;rs2231112;rs3179280;rs9260189;rs17424431;rs17845173;rs17857981;rs41558515	202;323;323;323;323	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	A	323	ENSP00000379873:T323A;ENSP00000366002:T323A;ENSP00000366005:T323A	ENSP00000366002:T323A	T	+	1	0	HLA-A	30020327	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.200000	0.03029	-1.981000	0.00989	-1.713000	0.00713	ACT	A|0.761;G|0.239	0.239	strong		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29912348	A	G	29912348	3	3	23	1	0	0	0	0	1	0	0	0	7195	159	6	2	985	2	HLA-A	6	29912348	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	15	29912348	141202719	1562	18018			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
HLA-A	3105	hgsc.bcm.edu	37	chr6	29913037	29913037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagtgcccagggctctgatGtgtccctcacagcttgtaaa	10	12	2	1	rs1137631	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:29913037G>A	ENST00000396634.1	+	9	1413	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	HLA-A_ENST00000376806.5_Missense_Mutation_p.V364M|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V358M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	358					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGGCTCTGATGTGTCCCTCAC	0.527									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.V358M		Atlas-SNP	.											HLA-A,caecum,carcinoma,0,1	HLA-A	89	1	0			c.G1072A						PASS	.	G	MET/VAL	921,3485		63,795,1345	112	107	109		1072	0	0	6	dbSNP_86	109	1247,7353		75,1097,3128	no	missense	HLA-A	NM_002116.7	21	138,1892,4473	AA,AG,GG		14.5,20.9033,16.6692	probably-damaging	358/366	29913037	2168,10838	2203	4300	6503	SO:0001583	missense	3105	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TCTGATGTGTCCC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.1072G>A	6.37:g.29913037G>A	ENSP00000379873:p.Val358Met	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	158	49	0.310127	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	412	0.18864468864468864	131	0.266260162601626	66	0.18232044198895028	101	0.17657342657342656	114	0.1503957783641161	.	4.763	0.141947	0.09083	0.209033	0.145	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809	T;T;T	0.02890	4.12;4.12;4.12	3.32	0.00338	0.14054	MHC class I, alpha chain, C-terminal (2);	1.163110	0.07081	U	0.836996	T	0.07548	0.0190	M	0.89214	3.015	0.80722	P	0.0	B;D;B	0.76494	0.024;0.999;0.024	B;D;B	0.87578	0.114;0.998;0.114	T	0.05517	-1.0880	9	0.87932	D	0	.	5.5556	0.17115	0.0:0.1827:0.3799:0.4374	rs1137631;rs2231120;rs2735100;rs3179375;rs3201428;rs3823341;rs17434512;rs41559513	358;364;358	P13746;Q5SRN5;P04439	1A11_HUMAN;.;1A03_HUMAN	M	358;364;107;358	ENSP00000379873:V358M;ENSP00000366002:V364M;ENSP00000366005:V358M	ENSP00000366002:V364M	V	+	1	0	HLA-A	30021016	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	-0.040000	0.12104	-0.132000	0.11557	0.485000	0.47835	GTG	G|0.829;A|0.171	0.171	strong		0.527	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29913037	G	A	29913037	3	1	23	1	0	0	0	0	1	0	0	0	7195	1377	48	2	1098	2	HLA-A	6	29913037	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	689	29913037	141202030	1563	18019			8	77	545094	11	11	2703	N	T_G_C_A	3.036108e-11
RNF39	80352	hgsc.bcm.edu	37	chr6	30039240	30039240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtggctctcctcgtcgtccGcatcctccccagaagagtct	9	16	2	2	rs2301753	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30039240G>T	ENST00000244360.6	-	4	1008	c.911C>A	c.(910-912)gCg>gAg	p.A304E	RNF39_ENST00000376751.3_Missense_Mutation_p.A304E	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		A -> E (in dbSNP:rs2301753). {ECO:0000269|PubMed:14574404}.			cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTCGTCGTCCGCATCCTCCCC	0.706													t|||	958	0.191294	0.2988	0.1744	5008	,	,		12945	0.1905		0.0954	False		,,,				2504	0.1575				p.A304E	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											.	RNF39	27	.	0			c.C911A						PASS	.		GLU/ALA,GLU/ALA	753,2251		92,569,841	12	9	10		911,911	4.5	0	6	dbSNP_100	10	637,4757		52,533,2112	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	107,107	144,1102,2953	TT,TG,GG		11.8094,25.0666,16.5516	benign,benign	304/421,304/355	30039240	1390,7008	1502	2697	4199	SO:0001583	missense	80352	exon4			TCGTCCGCATCCT	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.911C>A	6.37:g.30039240G>T	ENSP00000244360:p.Ala304Glu	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	17	10	0.588235	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	404	0.184981684981685	146	0.2967479674796748	72	0.19889502762430938	115	0.20104895104895104	71	0.09366754617414248	t	1.410	-0.575640	0.03882	0.250666	0.118094	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.69306	0.03;-0.39	4.54	4.54	0.55810	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.151026	0.29653	N	0.011551	T	0.10637	0.0260	N	0.00707	-1.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15925	-1.0420	9	0.02654	T	1	-14.7253	9.8189	0.40869	0.0:0.0:0.1737:0.8263	rs2301753;rs60004051;rs2301753	304;304	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	E	304	ENSP00000365942:A304E;ENSP00000244360:A304E	ENSP00000244360:A304E	A	-	2	0	RNF39	30147219	0.020000	0.18652	0.045000	0.18777	0.578000	0.36192	0.703000	0.25646	0.706000	0.31912	-1.106000	0.02097	GCG	G|0.804;T|0.196	0.196	strong		0.706	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		T	30039240	G	T	30039240	3	4	23	1	0	0	0	0	1	0	0	0	13491	1087	38	4	355	4	RNF39	6	30039240	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	126203	30039240	141075827	1564	18020										
RNF39	80352	hgsc.bcm.edu	37	chr6	30041009	30041009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgaattagatgacttggAtgttgggacttcaaatctac	9	7	3	3	rs2074479	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30041009A>G	ENST00000244360.6	-	3	704	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	RNF39_ENST00000376751.3_Missense_Mutation_p.S203P	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	203			S -> P (in dbSNP:rs2074479). {ECO:0000269|PubMed:14574404}.			cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GATGACTTGGATGTTGGGACT	0.468													g|||	958	0.191294	0.2988	0.1744	5008	,	,		20885	0.1905		0.0954	False		,,,				2504	0.1575				p.S203P	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											RNF39_ENST00000244360,NS,carcinoma,+1,1	RNF39	27	1	0			c.T607C						PASS	.		PRO/SER,PRO/SER	772,2250		93,586,832	131	128	129		607,607	4	0.7	6	dbSNP_96	129	650,4768		48,554,2107	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	74,74	141,1140,2939	GG,GA,AA		11.997,25.546,16.8483	benign,benign	203/421,203/355	30041009	1422,7018	1511	2709	4220	SO:0001583	missense	80352	exon3			ACTTGGATGTTGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.607T>C	6.37:g.30041009A>G	ENSP00000244360:p.Ser203Pro	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	158	73	0.462025	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	404	0.184981684981685	146	0.2967479674796748	72	0.19889502762430938	115	0.20104895104895104	71	0.09366754617414248	g	0.008	-1.893380	0.00522	0.25546	0.11997	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.70399	0.04;-0.48	3.99	3.99	0.46301	.	0.546488	0.13684	N	0.370007	T	0.19167	0.0460	N	0.01874	-0.695	0.58432	P	5.999999999950489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07139	-1.0788	9	0.13470	T	0.59	-19.0329	7.844	0.29414	0.1163:0.0:0.8837:0.0	rs2074479;rs52821835;rs60743069;rs2074479	203;203	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	P	203	ENSP00000365942:S203P;ENSP00000244360:S203P	ENSP00000244360:S203P	S	-	1	0	RNF39	30148988	0.782000	0.28689	0.659000	0.29680	0.025000	0.11179	0.836000	0.27545	1.050000	0.40346	-0.372000	0.07161	TCC	A|0.808;G|0.192	0.192	strong		0.468	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		G	30041009	A	G	30041009	3	3	23	1	0	0	0	0	1	0	0	0	13491	333	12	2	663	2	RNF39	6	30041009	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1769	30041009	141074058	1565	18021										
RPP21	79897	hgsc.bcm.edu	37	chr6	30314567	30314567	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaggagaaaatgcagactCagggttccagtaaccagtga	12	8	1	4	rs974963|rs35287137	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30314567C>A	ENST00000442966.2	+	5	458	c.445C>A	c.(445-447)Cag>Aag	p.Q149K	RPP21_ENST00000428040.2_Missense_Mutation_p.Q172K|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q410K|RPP21_ENST00000433076.2_Missense_Mutation_p.Q157K|RPP21_ENST00000436442.2_3'UTR			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	149			Q -> K (in dbSNP:rs974963). {ECO:0000269|PubMed:14574404}.		response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AATGCAGACTCAGGGTTCCAG	0.428													C|||	1866	0.372604	0.3018	0.4496	5008	,	,		21475	0.505		0.2435	False		,,,				2504	0.41				p.Q498K		Atlas-SNP	.											RPP21,NS,carcinoma,-1,1	.	.	1	0			c.C1492A						scavenged	.	C	LYS/GLN,LYS/GLN,,LYS/GLN	839,2183		114,611,786	159	163	162		1492,469,,445	3.1	0	6	dbSNP_86	162	1309,4109		159,991,1559	yes	missense,missense,utr-3,missense	RPP21,TRIM39-RPP21	NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2	53,53,,53	273,1602,2345	AA,AC,CC		24.1602,27.7631,25.4502	,,,	498/504,157/163,,149/155	30314567	2148,6292	1511	2709	4220	SO:0001583	missense	202658	exon10			CAGACTCAGGGTT	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.445C>A	6.37:g.30314567C>A	ENSP00000403833:p.Gln149Lys	Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	124	57	0.459677	NM_001199119	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	CCDS4679.1	689	0.31547619047619047	141	0.2865853658536585	133	0.3674033149171271	256	0.44755244755244755	159	0.20976253298153033	C	9.914	1.210278	0.22289	0.277631	0.241602	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040	T;T;T;T	0.42131	0.98;1.52;1.52;1.52	4.94	3.1	0.35709	.	0.447252	0.19787	N	0.106087	T	0.14098	0.0341	N	0.19112	0.55	0.58432	P	1.0000000000287557E-6	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.11329	0.006;0.004;0.0	T	0.06570	-1.0819	9	0.87932	D	0	-0.2296	11.6618	0.51352	0.0:0.6551:0.3449:0.0	rs974963;rs1060066;rs3173395;rs974963	412;149;172	F5H2V3;Q9H633;Q9H633-2	.;RPP21_HUMAN;.	K	412;410;157;149;172	ENSP00000424048:Q410K;ENSP00000409799:Q157K;ENSP00000403833:Q149K;ENSP00000394320:Q172K	ENSP00000394320:Q172K	Q	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30422546	0.197000	0.23362	0.001000	0.08648	0.006000	0.05464	1.778000	0.38614	0.743000	0.32719	0.655000	0.94253	CAG	C|0.718;A|0.282	0.282	strong		0.428	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		A	30314567	C	A	30314567	3	1	23	1	0	0	0	0	1	0	0	0	13610	827	29	4	463	4	RPP21	6	30314567	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	273558	30314567	140800500	1566	18022										
DDR1	780	hgsc.bcm.edu	37	chr6	30857072	30857072	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggtggatctacaacgactGcacctggtggctctggtggg	15	10	2	0	rs2229933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30857072G>C	ENST00000324771.8	+	6	830	c.282G>C	c.(280-282)ctG>ctC	p.L94L	DDR1_ENST00000376568.3_Silent_p.L94L|DDR1_ENST00000513240.1_Silent_p.L94L|DDR1_ENST00000376570.4_Silent_p.L94L|DDR1_ENST00000452441.1_Silent_p.L94L|DDR1_ENST00000376567.2_Silent_p.L94L|DDR1_ENST00000508312.1_Silent_p.L112L|DDR1_ENST00000418800.2_Silent_p.L94L|DDR1_ENST00000454612.2_Silent_p.L94L|DDR1_ENST00000376575.3_Silent_p.L94L|DDR1_ENST00000446312.1_Silent_p.L94L|DDR1_ENST00000376569.3_Silent_p.L94L|DDR1_ENST00000361741.4_5'Flank|MIR4640_ENST00000581824.1_RNA			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	94	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.			L -> V (in Ref. 2; AAA02866 and 5; AAC50917). {ECO:0000305}.	branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TACAACGACTGCACCTGGTGG	0.667													G|||	2080	0.415335	0.2746	0.4294	5008	,	,		16904	0.6121		0.2227	False		,,,				2504	0.591				p.L112L		Atlas-SNP	.											.	DDR1	213	.	0			c.G336C						PASS	.	G	,,,,,	785,2237		104,577,830	111	112	111		282,282,336,282,282,282	2.3	1	6	dbSNP_98	111	967,4449		87,793,1828	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DDR1	NM_001202521.1,NM_001202522.1,NM_001202523.1,NM_001954.4,NM_013993.2,NM_013994.2	,,,,,	191,1370,2658	CC,CG,GG		17.8545,25.9762,20.7632	,,,,,	94/509,94/768,112/895,94/877,94/914,94/920	30857072	1752,6686	1511	2708	4219	SO:0001819	synonymous_variant	780	exon4			ACGACTGCACCTG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.282G>C	6.37:g.30857072G>C		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	184	85	0.461957	NM_001202523	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	CCDS34385.1	766	0.3507326007326007	125	0.2540650406504065	144	0.39779005524861877	310	0.541958041958042	187	0.24670184696569922	G	9.040	0.989395	0.18966	0.259762	0.178545	ENSG00000204580	ENST00000424544	.	.	.	4.81	2.33	0.28932	.	.	.	.	.	T	0.13798	0.0334	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.16600	-1.0397	3	.	.	.	.	2.6727	0.05071	0.3107:0.0:0.4746:0.2147	rs2229933;rs2229933	.	.	.	P	78	.	.	A	+	1	0	DDR1	30965051	0.996000	0.38824	0.995000	0.50966	0.911000	0.54048	0.384000	0.20668	0.882000	0.36016	0.305000	0.20034	GCA	G|0.733;C|0.267	0.267	strong		0.667	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		C	30857072	G	C	30857072	2	2	23	1	0	0	0	0	0	0	0	1	4336	1306	46	4		4	DDR1	6	30857072	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	542505	30857072	140257995	1567	18023										
VARS2	57176	hgsc.bcm.edu	37	chr6	30887972	30887972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggatgggaccatgacctcCctctgcggggactggctgca	15	12	1	1	rs2285319	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30887972C>T	ENST00000321897.5	+	12	1904	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.S454S|VARS2_ENST00000416670.2_Silent_p.S424S|VARS2_ENST00000542001.1_Silent_p.S284S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	424					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCATGACCTCCCTCTGCGGGG	0.572													C|||	1973	0.39397	0.2602	0.4222	5008	,	,		16186	0.5942		0.2038	False		,,,				2504	0.544				p.S454S		Atlas-SNP	.											.	VARS2	60	.	0			c.C1362T						PASS	.	C	,,	698,2324		83,532,896	57	53	55		852,1362,1272	-2.3	0	6	dbSNP_100	55	879,4539		69,741,1899	no	coding-synonymous,coding-synonymous,coding-synonymous	VARS2	NM_001167733.1,NM_001167734.1,NM_020442.4	,,	152,1273,2795	TT,TC,CC		16.2237,23.0973,18.6848	,,	284/924,454/1094,424/1064	30887972	1577,6863	1511	2709	4220	SO:0001819	synonymous_variant	57176	exon13			GACCTCCCTCTGC	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1272C>T	6.37:g.30887972C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	155	70	0.451613	NM_001167734	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																			C|0.745;T|0.255	0.255	strong		0.572	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30887972	C	T	30887972	2	4	23	1	0	0	0	0	0	0	0	1	17121	610	22	2		2	VARS2	6	30887972	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30900	30887972	140227095	1568	18024										
SFTA2	389376	hgsc.bcm.edu	37	chr6	30899571	30899571	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttgcaaagtcatacccggCcctgcggatccagaagtaca	10	12	1	1	rs2286656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:30899571C>T	ENST00000359086.3	-	2	141	c.63G>A	c.(61-63)ggG>ggA	p.G21G	Y_RNA_ENST00000516952.1_RNA	NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	21						extracellular region (GO:0005576)				lung(2)	2						TCATACCCGGCCCTGCGGATC	0.517													C|||	1414	0.282348	0.1203	0.366	5008	,	,		19919	0.3641		0.1839	False		,,,				2504	0.4591				p.G21G		Atlas-SNP	.											.	SFTA2	6	.	0			c.G63A						PASS	.	C		397,2623		33,331,1146	58	70	66		63	2.1	0.9	6	dbSNP_100	66	810,4608		62,686,1961	yes	coding-synonymous-near-splice	SFTA2	NM_205854.2		95,1017,3107	TT,TC,CC		14.9502,13.1457,14.3043		21/79	30899571	1207,7231	1510	2709	4219	SO:0001630	splice_region_variant	389376	exon2			ACCCGGCCCTGCG	AY102070	CCDS4691.1	6p21.3	2008-08-26	2008-08-26	2008-08-26	ENSG00000196260	ENSG00000196260			18386	protein-coding gene	gene with protein product			"surfactant associated protein G"	SFTPG			Standard	NM_205854		Approved		uc003nsf.3	Q6UW10	OTTHUMG00000031183	ENST00000359086.3:c.62-1G>A	6.37:g.30899571C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	90	28	0.311111	NM_205854	A2ABK7|A2ACH1|B7ZCJ7	Silent	SNP	ENST00000359086.3	37	CCDS4691.1																																																																																			C|0.811;T|0.189	0.189	strong		0.517	SFTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076360.2	NM_205854	Silent	T	30899571	C	T	30899571	5	4	23	1	0	0	0	0	0	0	1	0	14187	753	26	2	181	2	SFTA2	6	30899571	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11599	30899571	140215496	1569	18025										
PSORS1C2	170680	hgsc.bcm.edu	37	chr6	31106065	31106065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggtgggtgagaggggtggCcctcgctgcctgagatgcct	19	10	0	2	rs2233950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31106065C>T	ENST00000259845.4	-	2	397	c.74G>A	c.(73-75)gGc>gAc	p.G25D	PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_5'Flank	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	25			G -> D (in dbSNP:rs2233950). {ECO:0000269|PubMed:12930300}.			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGAGGGGTGGCCCTCGCTGCC	0.677													T|||	252	0.0503195	0.0363	0.049	5008	,	,		11976	0.0734		0.0567	False		,,,				2504	0.0399				p.G25D		Atlas-SNP	.											.	PSORS1C2	11	.	0			c.G74A						PASS	.	T	,ASP/GLY	111,2887		2,107,1390	13	13	13		,74	4.4	0.9	6	dbSNP_98	13	174,5226		3,168,2529	yes	intron,missense	PSORS1C1,PSORS1C2	NM_014068.2,NM_014069.2	,94	5,275,3919	TT,TC,CC		3.2222,3.7025,3.3937	,benign	,25/137	31106065	285,8113	1499	2700	4199	SO:0001583	missense	170680	exon2			GGGTGGCCCTCGC	AB031480	CCDS4694.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204538	ENSG00000204538			17199	protein-coding gene	gene with protein product		613526	"chromosome 6 open reading frame 17"	C6orf17			Standard	NM_014069		Approved	SPR1	uc003nso.4	Q9UIG4	OTTHUMG00000031081	ENST00000259845.4:c.74G>A	6.37:g.31106065C>T	ENSP00000259845:p.Gly25Asp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_014069	Q5STD0	Missense_Mutation	SNP	ENST00000259845.4	37	CCDS4694.1	113	0.051739926739926737	17	0.034552845528455285	11	0.03038674033149171	38	0.06643356643356643	47	0.06200527704485488	T	0.016	-1.538190	0.00942	0.037025	0.032222	ENSG00000204538	ENST00000259845	T	0.16897	2.31	4.43	4.43	0.53597	.	0.139304	0.32671	N	0.005797	T	0.01061	0.0035	N	0.01168	-0.975	0.22292	N	0.999222	B	0.02656	0.0	B	0.01281	0.0	T	0.48445	-0.9035	10	0.02654	T	1	-3.5661	6.8292	0.23900	0.0:0.1072:0.0:0.8928	rs2233950;rs2233950	25	Q9UIG4	PS1C2_HUMAN	D	25	ENSP00000259845:G25D	ENSP00000259845:G25D	G	-	2	0	PSORS1C2	31214044	1.000000	0.71417	0.947000	0.38551	0.032000	0.12392	2.056000	0.41355	0.729000	0.32403	-0.629000	0.03991	GGC	C|0.957;T|0.043	0.043	strong		0.677	PSORS1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076115.3			T	31106065	C	T	31106065	3	4	23	1	0	0	0	0	1	0	0	0	12715	739	26	2	340	2	PSORS1C2	6	31106065	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	206494	31106065	140009002	1570	18026										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31237858	31237858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggatggtgggctgggaagaTggctctgggaaaggaggaga	22	3	1	2	rs281860578|rs34794906	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31237858T>C	ENST00000376228.5	-	5	914	c.900A>G	c.(898-900)ccA>ccG	p.P300P	HLA-C_ENST00000383329.3_Silent_p.P300P	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	300	Connecting peptide.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGGGAAGATGGCTCTGGGA	0.592													t|||	2055	0.410343	0.4463	0.4438	5008	,	,		15975	0.5665		0.337	False		,,,				2504	0.2526				p.P300P		Atlas-SNP	.											.	HLA-C	92	.	0			c.A900G						PASS	.	C		1466,2932		353,760,1086	42	43	43		900	-5.3	0	6	dbSNP_126	43	2113,6485		349,1415,2535	no	coding-synonymous	HLA-C	NM_002117.5		702,2175,3621	CC,CT,TT		24.5755,33.3333,27.5392		300/367	31237858	3579,9417	2199	4299	6498	SO:0001819	synonymous_variant	3107	exon5			GGAAGATGGCTCT	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.900A>G	6.37:g.31237858T>C		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	243	70	0.288066	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1																																																																																			T|0.659;C|0.341	0.341	strong		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31237858	T	C	31237858	2	2	23	1	0	0	0	0	0	0	0	1	7197	1451	51	2		2	HLA-C	6	31237858	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	131793	31237858	139877209	1571	18027										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238068	31238068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttgtccagaaggcaccaCcacagctgcccacttctgga	8	16	2	1	rs1050276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31238068C>T	ENST00000376228.5	-	4	828	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	HLA-C_ENST00000383329.3_Missense_Mutation_p.V272M	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	272	Alpha-3.|Ig-like C1-type.		V -> M (in dbSNP:rs1050276).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAAGGCACCACCACAGCTGCC	0.622													C|||	347	0.0692891	0.0076	0.0994	5008	,	,		16190	0.1905		0.0368	False		,,,				2504	0.0399				p.V272M		Atlas-SNP	.											.	HLA-C	92	.	0			c.G814A						PASS	.	C	MET/VAL	33,4373		0,33,2170	47	41	43		814	1.7	1	6	dbSNP_86	43	269,8331		4,261,4035	no	missense	HLA-C	NM_002117.5	21	4,294,6205	TT,TC,CC		3.1279,0.749,2.322	benign	272/367	31238068	302,12704	2203	4300	6503	SO:0001583	missense	3107	exon4			GCACCACCACAGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.814G>A	6.37:g.31238068C>T	ENSP00000365402:p.Val272Met	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	222	75	0.337838	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	148|148	0.06776556776556776|0.06776556776556776	3|3	0.006097560975609756|0.006097560975609756	28|28	0.07734806629834254|0.07734806629834254	93|93	0.16258741258741258|0.16258741258741258	24|24	0.0316622691292876|0.0316622691292876	.|.	1.486|1.486	-0.555821|-0.555821	0.03967|0.03967	0.00749|0.00749	0.031279|0.031279	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.02837|.	4.14;4.14|.	2.67|2.67	1.71|1.71	0.24356|0.24356	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	1.048890|.	0.07676|.	U|.	0.936276|.	T|.	0.45716|.	0.1356|.	M|M	0.77820|0.77820	2.39|2.39	0.43457|0.43457	P|P	0.0043480000000000185|0.0043480000000000185	B;B;B;B|.	0.23490|.	0.086;0.004;0.004;0.008|.	B;B;B;B|.	0.25405|.	0.06;0.008;0.026;0.031|.	T|.	0.41840|.	-0.9486|.	9|.	0.66056|.	D|.	0.02|.	.|.	7.132|7.132	0.25507|0.25507	0.0:0.718:0.282:0.0|0.0:0.718:0.282:0.0	rs1050276;rs2308619;rs3177863;rs17840046|rs1050276;rs2308619;rs3177863;rs17840046	272;272;272;272|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	M|X	272;272;272;309|235	ENSP00000365402:V272M;ENSP00000372819:V272M|.	ENSP00000365402:V272M|.	V|W	-|-	1|3	0|0	HLA-C|HLA-C	31346047|31346047	0.701000|0.701000	0.27806|0.27806	0.983000|0.983000	0.44433|0.44433	0.246000|0.246000	0.25737|0.25737	1.404000|1.404000	0.34623|0.34623	0.631000|0.631000	0.30412|0.30412	0.298000|0.298000	0.19748|0.19748	GTG|TGG	C|0.963;T|0.037	0.037	strong		0.622	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31238068	C	T	31238068	3	4	23	1	0	0	0	0	1	0	0	0	7197	507	18	2	306	2	HLA-C	6	31238068	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	210	31238068	139876999	1572	18028										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238155	31238155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctggtcctccccatcccGctgccaggtcagtgtgatct	11	15	3	1	rs1050328	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31238155G>A	ENST00000376228.5	-	4	741	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	HLA-C_ENST00000383329.3_Missense_Mutation_p.R243W	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	243	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCCCCATCCCGCTGCCAGGTC	0.632													G|||	1934	0.386182	0.3714	0.428	5008	,	,		14977	0.5675		0.327	False		,,,				2504	0.2505				p.R243W		Atlas-SNP	.											HLA-C,colon,carcinoma,+1,1	HLA-C	92	1	0			c.C727T						scavenged	.	G	TRP/ARG	1452,2948		276,900,1024	38	37	37		727	0.7	1	6	dbSNP_86	37	2279,6297		360,1559,2369	no	missense	HLA-C	NM_002117.5	101	636,2459,3393	AA,AG,GG		26.5742,33.0,28.7531	probably-damaging	243/367	31238155	3731,9245	2200	4288	6488	SO:0001583	missense	3107	exon4			CATCCCGCTGCCA	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.727C>T	6.37:g.31238155G>A	ENSP00000365402:p.Arg243Trp	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	263	117	0.444867	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	832	0.38095238095238093	157	0.31910569105691056	140	0.3867403314917127	306	0.534965034965035	229	0.3021108179419525	.	3.864	-0.029320	0.07589	0.33	0.265742	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.03181	4.02;4.02	2.67	0.7	0.18099	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.232985	0.21532	U	0.073034	T	0.01835	0.0058	M	0.83953	2.67	0.46609	P	8.749999999999591E-4	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	T	0.24977	-1.0145	9	0.48119	T	0.1	.	2.7344	0.05236	0.1696:0.0:0.5518:0.2786	rs1050328;rs2308614;rs3177868;rs3190622;rs12721973;rs17840005	243;243;243;243	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	W	243;243;243;280	ENSP00000365402:R243W;ENSP00000372819:R243W	ENSP00000365402:R243W	R	-	1	2	HLA-C	31346134	0.000000	0.05858	0.987000	0.45799	0.454000	0.32378	-0.406000	0.07187	0.168000	0.19655	0.298000	0.19748	CGG	G|0.695;A|0.305	0.305	strong		0.632	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238155	G	A	31238155	3	1	23	1	0	0	0	0	1	0	0	0	7197	1086	38	1	393	1	HLA-C	6	31238155	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	87	31238155	139876912	1573	18029										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239108	31239108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggtcgcagccagacatccTctggagggtgtgagaccctg	14	12	1	2	rs1131118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31239108T>A	ENST00000376228.5	-	3	375	c.361A>T	c.(361-363)Agg>Tgg	p.R121W	HLA-C_ENST00000383329.3_Missense_Mutation_p.R121W	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	121	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGACATCCTCTGGAGGGTG	0.701													N|||	1342	0.267971	0.2179	0.2839	5008	,	,		10532	0.3026		0.2664	False		,,,				2504	0.2904				p.R121W		Atlas-SNP	.											HLA-C_ENST00000383329,NS,carcinoma,0,2	HLA-C	92	2	0			c.A361T						scavenged	.	A	TRP/ARG	967,3349		93,781,1284	20	19	19		361	-5.6	0	6	dbSNP_86	19	1933,6525		189,1555,2485	no	missense	HLA-C	NM_002117.5	101	282,2336,3769	AA,AT,TT		22.8541,22.405,22.7024	benign	121/367	31239108	2900,9874	2158	4229	6387	SO:0001583	missense	3107	exon3			ACATCCTCTGGAG	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.361A>T	6.37:g.31239108T>A	ENSP00000365402:p.Arg121Trp	Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	45	15	0.333333	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.319|3.319	-0.139116|-0.139116	0.06669|0.06669	0.22405|0.22405	0.228541|0.228541	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00010	.|9.41;9.41	2.81|2.81	-5.62|-5.62	0.02481|0.02481	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.047180	.|0.07713	.|N	.|0.942312	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.11255|0.11255	0.115|0.115	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B;B;B	.|0.24368	.|0.102;0.062;0.03;0.03;0.03	.|B;B;B;B;B	.|0.36335	.|0.222;0.027;0.027;0.014;0.027	T|T	0.16808|0.16808	-1.0390|-1.0390	5|9	0.62326|0.42905	D|T	0.03|0.14	.|.	4.3487|4.3487	0.11144|0.11144	0.3799:0.2718:0.0:0.3483|0.3799:0.2718:0.0:0.3483	rs1131118;rs2308566;rs3177883;rs3190686;rs11547358;rs17366166;rs17413520;rs28367579|rs1131118;rs2308566;rs3177883;rs3190686;rs11547358;rs17366166;rs17413520;rs28367579	.|121;96;121;121;121	.|A2AEA4;Q92671;A6H578;A2AEA2;P10321	.|.;.;.;.;1C07_HUMAN	V|W	120|121;121;121;158	.|ENSP00000365402:R121W;ENSP00000372819:R121W	ENSP00000365412:E115V|ENSP00000365402:R121W	E|R	-|-	2|1	0|2	HLA-C|HLA-C	31347087|31347087	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-6.442000|-6.442000	0.00066|0.00066	-2.961000|-2.961000	0.00290|0.00290	-2.002000|-2.002000	0.00443|0.00443	GAG|AGG	T|0.768;A|0.232	0.232	strong		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31239108	T	A	31239108	3	1	23	1	0	0	0	0	1	0	0	0	7197	1550	54	5	763	5	HLA-C	6	31239108	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	953	31239108	139875959	1574	18030										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324145	31324145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccttgccgtcgtaggcgtActggtcatgcccgcggagga	14	12	1	0	rs9266150	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31324145A>C	ENST00000412585.2	-	3	446	c.418T>G	c.(418-420)Tac>Gac	p.Y140D		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	140	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCGTAGGCGTACTGGTCATGC	0.706									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.Y140D		Atlas-SNP	.											HLA-B,colon,carcinoma,+1,1	HLA-B	54	1	0			c.T418G						scavenged	.	A	ASP/TYR	318,3856		18,282,1787	26	21	22	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	418	-6.4	0	6	dbSNP_118	22	1185,7191		77,1031,3080	no	missense	HLA-B	NM_005514.6	160	95,1313,4867	CC,CA,AA		14.1476,7.6186,11.9761		140/363	31324145	1503,11047	2087	4188	6275	SO:0001583	missense	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	AGGCGTACTGGTC	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.418T>G	6.37:g.31324145A>C	ENSP00000399168:p.Tyr140Asp	Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	116	41	0.353448	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	3.928	-0.016793	0.07681	0.076186	0.141476	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00012	9.31;9.31	3.18	-6.36	0.01969	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1.609830	0.05070	U	0.481455	T	0.00012	0.0000	N	0.02368	-0.58	0.80722	P	0.0	B;B	0.23377	0.084;0.01	B;B	0.26094	0.066;0.058	T	0.02138	-1.1207	9	0.10636	T	0.68	.	2.0837	0.03640	0.2816:0.3839:0.0845:0.25	rs9266150	140;140	P30480;P01889	1B42_HUMAN;1B07_HUMAN	D	140;19;19;151	ENSP00000399168:Y140D;ENSP00000405931:Y151D	ENSP00000399168:Y140D	Y	-	1	0	HLA-B	31432124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.243000	0.01194	-2.056000	0.00898	-2.701000	0.00136	TAC	A|0.886;C|0.114	0.114	strong		0.706	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		C	31324145	A	C	31324145	3	2	23	1	0	0	0	0	1	0	0	0	7196	391	14	5	690	5	HLA-B	6	31324145	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	85037	31324145	139790922	1575	18031										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324547	31324547	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggccttgtagatctgtgtGttccggtcccaatactccgg	12	11	1	1	rs1065386|rs281864604	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31324547G>C	ENST00000412585.2	-	2	289	c.261C>G	c.(259-261)aaC>aaG	p.N87K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	87	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.N87K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGATCTGTGTGTTCCGGTCCC	0.662									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	2278	0.454872	0.3676	0.4179	5008	,	,		6866	0.5853		0.3936	False		,,,				2504	0.5276				p.N87K		Atlas-SNP	.											HLA-B,NS,lymphoid_neoplasm,-2,2	HLA-B	54	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C261G						scavenged	.	C	LYS/ASN	834,3406		230,374,1516	66	64	65		261	-1.2	0	6	dbSNP_86	65	1737,6553		553,631,2961	no	missense	HLA-B	NM_005514.6	94	783,1005,4477	CC,CG,GG		20.953,19.6698,20.5188		87/363	31324547	2571,9959	2120	4145	6265	SO:0001583	missense	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CTGTGTGTTCCGG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.261C>G	6.37:g.31324547G>C	ENSP00000399168:p.Asn87Lys	Somatic	145	2	0.0137931		WXS	Illumina HiSeq	Phase_I	161	57	0.354037	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	760	0.34798534798534797	120	0.24390243902439024	97	0.26795580110497236	301	0.5262237762237763	242	0.31926121372031663	N	7.741	0.701384	0.15172	0.196698	0.20953	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00705	5.81;5.81	3.2	-1.24	0.09435	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.715036	0.10428	U	0.675817	T	0.01421	0.0046	M	0.87758	2.905	0.80722	P	0.0	B;B;D	0.54207	0.147;0.334;0.965	B;B;D	0.63192	0.119;0.185;0.912	T	0.17745	-1.0359	9	0.66056	D	0.02	.	7.0496	0.25065	0.0:0.4051:0.4134:0.1816	rs1131200;rs2308411;rs3177919;rs3190898	87;87;62	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	K	87;98	ENSP00000399168:N87K;ENSP00000405931:N98K	ENSP00000399168:N87K	N	-	3	2	HLA-B	31432526	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	-1.228000	0.02948	-0.885000	0.03971	-1.610000	0.00802	AAC	G|0.668;C|0.332	0.332	strong		0.662	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		C	31324547	G	C	31324547	3	2	23	1	0	0	0	0	1	0	0	0	7196	1368	48	4	851	4	HLA-B	6	31324547	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	402	31324547	139790520	1576	18032										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324911	31324911	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccgagagcagcaggaggaCggttcggggcgccatgacca	17	12	0	2	rs1050462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31324911C>G	ENST00000412585.2	-	1	53	c.25G>C	c.(25-27)Gtc>Ctc	p.V9L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	9			V -> L (in dbSNP:rs1050462).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCAGGAGGACGGTTCGGGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	1155	0.230631	0.1233	0.245	5008	,	,		8959	0.25		0.3062	False		,,,				2504	0.2679				p.V9L		Atlas-SNP	.											HLA-B,cerebellum,glioma,0,1	HLA-B	54	1	0			c.G25C						scavenged	.	C	LEU/VAL	238,3960		11,216,1872	13	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	25	2.5	0.1	6	dbSNP_86	12	981,7141		59,863,3139	yes	missense	HLA-B	NM_005514.6	32	70,1079,5011	GG,GC,CC		12.0783,5.6694,9.8945		9/363	31324911	1219,11101	2099	4061	6160	SO:0001583	missense	3106	exon1	Familial Cancer Database	;Lichen Sclerosis, Familial	GGAGGACGGTTCG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.25G>C	6.37:g.31324911C>G	ENSP00000399168:p.Val9Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	121	8	0.0661157	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	494	0.2261904761904762	61	0.12398373983739837	84	0.23204419889502761	135	0.23601398601398602	214	0.28232189973614774	N	8.101	0.776701	0.16120	0.056694	0.120783	ENSG00000234745	ENST00000412585	T	0.00597	6.31	3.34	2.47	0.30058	.	0.330918	0.16642	N	0.205609	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.12400	-1.0549	8	0.02654	T	1	.	8.6444	0.33996	0.0:0.237:0.763:0.0	rs1050462;rs2308334;rs3177903;rs3190781;rs9266204;rs17416898;rs17840061	9	P01889	1B07_HUMAN	L	9	ENSP00000399168:V9L	ENSP00000399168:V9L	V	-	1	0	HLA-B	31432890	0.007000	0.16637	0.054000	0.19295	0.040000	0.13550	0.447000	0.21710	0.756000	0.33013	-0.435000	0.05868	GTC	C|0.792;G|0.208	0.208	strong		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324911	C	G	31324911	3	3	23	1	0	0	0	0	1	0	0	0	7196	536	19	4	1091	4	HLA-B	6	31324911	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	364	31324911	139790156	1577	18033										
MICA	100507436	hgsc.bcm.edu	37	chr6	31379752	31379752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggtgaatgtcacccgcagCgaggcctcagagggcaacat	13	11	2	2	rs17206680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379752C>T	ENST00000449934.2	+	4	696	c.642C>T	c.(640-642)agC>agT	p.S214S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TCACCCGCAGCGAGGCCTCAG	0.582													c|||	149	0.0297524	0.0106	0.013	5008	,	,		20941	0.0536		0.0477	False		,,,				2504	0.0245				p.S214S		Atlas-SNP	.											.	MICA	21	.	0			c.C642T						PASS	.	T		9,1375		0,9,683	32	36	35		642	-2	0	6	dbSNP_123	35	128,3054		3,122,1466	no	coding-synonymous	MICA	NM_001177519.1		3,131,2149	TT,TC,CC		4.0226,0.6503,3.0004		214/333	31379752	137,4429	692	1591	2283	SO:0001819	synonymous_variant	100507436	exon4			CCGCAGCGAGGCC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.642C>T	6.37:g.31379752C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	117	46	0.393162	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			C|0.967;T|0.033	0.033	strong		0.582	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379752	C	T	31379752	2	4	23	1	0	0	0	0	0	0	0	1	9568	767	27	1		1	MICA	6	31379752	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	54841	31379752	139735315	1578	18034			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31379773	31379773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcctcagagggcaacatCaccgtgacatgcagggcttc	13	12	2	2	rs1051796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379773C>T	ENST00000449934.2	+	4	717	c.663C>T	c.(661-663)atC>atT	p.I221I	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGGGCAACATCACCGTGACAT	0.602													c|||	1821	0.363618	0.4766	0.4049	5008	,	,		20346	0.3006		0.3141	False		,,,				2504	0.2975				p.I221I		Atlas-SNP	.											.	MICA	21	.	0			c.C663T						PASS	.	C		579,805		132,315,245	31	34	33		663	1.6	0	6	dbSNP_86	33	913,2269		126,661,804	no	coding-synonymous	MICA	NM_001177519.1		258,976,1049	TT,TC,CC		28.6926,41.8353,32.6763		221/333	31379773	1492,3074	692	1591	2283	SO:0001819	synonymous_variant	100507436	exon4			CAACATCACCGTG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.663C>T	6.37:g.31379773C>T		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	111	39	0.351351	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			.	.	weak		0.602	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379773	C	T	31379773	2	4	23	1	0	0	0	0	0	0	0	1	9568	816	29	2		2	MICA	6	31379773	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21	31379773	139735294	1579	18035			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31379794	31379794	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgtgacatgcagggcttcCagcttctatccccggaatat					rs1051797|rs386699191	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379794C>T	ENST00000449934.2	+	4	738	c.684C>T	c.(682-684)tcC>tcT	p.S228S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GCAGGGCTTCCAGCTTCTATC	0.587													t|||	1823	0.364018	0.4773	0.4063	5008	,	,		19466	0.2996		0.3141	False		,,,				2504	0.2986				p.S228S		Atlas-SNP	.											.	MICA	21	.	0			c.C684T						PASS	.						21	25	24					6																	31379794		692	1591	2283	SO:0001819	synonymous_variant	100507436	exon4			GGCTTCCAGCTTC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.684C>T	6.37:g.31379794C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	118	39	0.330508	NM_001177519		Silent	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			C|0.698;T|0.302	0.302	strong		0.587	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379794	C	T	31379794	2	4	23	1	0	0	0	0	0	0	0	1	9568	581	21	2		2	MICA	6	31379794	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21	31379794	139735273	1580	18036	377	2	9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31379795	31379795	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtgacatgcagggcttccAgcttctatccccggaatatc					rs1131898|rs386699191	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379795A>G	ENST00000449934.2	+	4	739	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGCTTCCAGCTTCTATCC	0.587													g|||	1823	0.364018	0.4773	0.4063	5008	,	,		19594	0.2996		0.3141	False		,,,				2504	0.2986				p.S229G		Atlas-SNP	.											.	MICA	21	.	0			c.A685G						PASS	.						20	24	23					6																	31379795		692	1591	2283	SO:0001583	missense	100507436	exon4			GCTTCCAGCTTCT	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.685A>G	6.37:g.31379795A>G	ENSP00000413079:p.Ser229Gly	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	118	37	0.313559	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	664	0.304029304029304	188	0.3821138211382114	147	0.40607734806629836	134	0.23426573426573427	195	0.25725593667546176	N	0.013	-1.630927	0.00813	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.09163	3.01;3.01	2.52	-1.92	0.07618	.	1.300610	0.05734	N	0.600057	T	0.00967	0.0032	.	.	.	0.80722	P	0.0	B;B	0.14012	0.009;0.003	B;B	0.08055	0.003;0.001	T	0.43310	-0.9399	8	0.02654	T	1	.	8.8893	0.35423	0.6127:0.0:0.3873:0.0	rs1131898;rs3192173;rs17206701;rs17883642	91;229	Q5SS58;Q96QC4	.;.	G	91;229;186;229;120	ENSP00000413079:S229G;ENSP00000402410:S120G	ENSP00000365394:S229G	S	+	1	0	MICA	31487774	0.015000	0.18098	0.001000	0.08648	0.014000	0.08584	0.171000	0.16685	-0.782000	0.04541	-1.366000	0.01203	AGC	A|0.700;G|0.300	0.300	strong		0.587	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31379795	A	G	31379795	3	3	23	1	0	0	0	0	1	0	0	0	9568	188	7	3	699	3	MICA	6	31379795	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1	31379795	139735272	1581	18037	377	2	9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31379807	31379807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcttccagcttctatcccCggaatatcatactgacctgg	9	13	2	1	rs1051798	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379807C>T	ENST00000449934.2	+	4	751	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTTCTATCCCCGGAATATCAT	0.582													t|||	1823	0.364018	0.4773	0.4063	5008	,	,		19217	0.2996		0.3141	False		,,,				2504	0.2986				p.R233W		Atlas-SNP	.											.	MICA	21	.	0			c.C697T						PASS	.						16	20	18					6																	31379807		692	1589	2281	SO:0001583	missense	100507436	exon4			TATCCCCGGAATA	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.697C>T	6.37:g.31379807C>T	ENSP00000413079:p.Arg233Trp	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	119	38	0.319328	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	688	0.315018315018315	200	0.4065040650406504	150	0.4143646408839779	136	0.23776223776223776	202	0.26649076517150394	N	3.279	-0.147379	0.06627	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.15017	2.46;2.46	2.52	-5.05	0.02955	.	1.658740	0.04364	N	0.357915	T	0.02304	0.0071	.	.	.	0.80722	P	0.0	B;B	0.18310	0.027;0.008	B;B	0.09377	0.004;0.002	T	0.28681	-1.0036	8	0.39692	T	0.17	.	1.8464	0.03160	0.1203:0.2683:0.332:0.2794	rs1051798;rs3192174;rs17200323;rs17845521;rs17858411;rs17883108;rs52816780;rs1051798	95;233	Q5SS58;Q96QC4	.;.	W	95;233;190;233;124	ENSP00000413079:R233W;ENSP00000402410:R124W	ENSP00000365394:R233W	R	+	1	2	MICA	31487786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-9.749000	0.00009	-2.258000	0.00694	-3.922000	0.00016	CGG	C|0.730;T|0.270	0.270	strong		0.582	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379807	C	T	31379807	3	4	23	1	0	0	0	0	1	0	0	0	9568	643	23	1	711	1	MICA	6	31379807	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12	31379807	139735260	1582	18038			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31379931	31379931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggccaccaggatttgccGaggagaggagcagaggttca	17	8	1	2	rs1063635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31379931G>A	ENST00000449934.2	+	4	875	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGGATTTGCCGAGGAGAGGAG	0.602													a|||	2921	0.583267	0.7519	0.6196	5008	,	,		19002	0.4226		0.5089	False		,,,				2504	0.5716				p.R274Q		Atlas-SNP	.											.	MICA	21	.	0			c.G821A						PASS	.						20	19	19					6																	31379931		692	1591	2283	SO:0001583	missense	100507436	exon4			TTTGCCGAGGAGA	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.821G>A	6.37:g.31379931G>A	ENSP00000413079:p.Arg274Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	126	69	0.547619	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	0.751	-0.772915	0.02951	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.02763	4.17;4.17	2.72	-0.104	0.13605	.	0.817674	0.09786	N	0.756012	T	0.00496	0.0016	.	.	.	0.80722	P	0.0	B;B	0.18610	0.029;0.009	B;B	0.14023	0.01;0.003	T	0.46911	-0.9157	8	0.21540	T	0.41	.	1.3364	0.02145	0.2905:0.4047:0.1327:0.1721	rs1063635;rs16899611;rs17794659;rs17845523;rs17858413;rs17884605;rs1063635	136;274	Q5SS58;Q96QC4	.;.	Q	136;274;231;274;165	ENSP00000413079:R274Q;ENSP00000402410:R165Q	ENSP00000365394:R274Q	R	+	2	0	MICA	31487910	0.000000	0.05858	0.012000	0.15200	0.088000	0.18126	-0.399000	0.07250	-0.066000	0.12998	-0.621000	0.04028	CGA	G|0.488;A|0.512	0.512	strong		0.602	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31379931	G	A	31379931	3	1	23	1	0	0	0	0	1	0	0	0	9568	1058	37	1	835	1	MICA	6	31379931	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	124	31379931	139735136	1583	18039			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31380158	31380161	+	Frame_Shift_Del	DEL	GCTG	GCTG	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgtttctgctgttgctGctggctgctgctatttttgt					rs41293539|rs547446871|rs138201170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GCTG	GCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31380158_31380161delGCTG	ENST00000449934.2	+	5	1003_1006	c.949_952delGCTG	c.(949-954)gctggcfs	p.AG317fs	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGCTGTTGCTGCTGGCTGCTGCTA	0.456														480	0.0958466	0.0976	0.0692	5008	,	,		20271	0.121		0.1203	False		,,,				2504	0.0613				p.316_317del		Pindel,Atlas-Indel	.											.	MICA	21	.	0			c.948_951del						PASS	.			1009,2901		76,857,1022						0.3	0		dbSNP_127	255	1985,6023		143,1699,2162	no	frameshift	MICA	NM_001177519.1		219,2556,3184	A1A1,A1R,RR		24.7877,25.8056,25.1217				2994,8924				SO:0001589	frameshift_variant	100507436	exon5			.	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.949_952delGCTG	6.37:g.31380162_31380165delGCTG	ENSP00000413079:p.Ala317fs	Somatic	167	.	.		WXS	Illumina HiSeq	Phase_I	155	30	0.194	NM_001177519		Frame_Shift_Del	DEL	ENST00000449934.2	37	CCDS56412.1																																																																																			.	.	strong		0.456	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		-	31380161	GCTG	-	31380158	7	5	23	1	0	1	0	1	0	0	0	0	9568	1319	46	0	967	0	MICA	6	31380158	Frame_Shift_Del	DEL	GCTG	TCGA-GR-7353-01A-11D-2210-10	227	31380158	139734909	1584	18040			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31382882	31382882	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttcagcctctgatgtcagCtcttgggtccactggctcca	9	13	4	1	rs9266825	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31382882C>A	ENST00000449934.2	+	0	1176				HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTGATGTCAGCTCTTGGGTCC	0.572													t|||	1717	0.342851	0.4372	0.3516	5008	,	,		14470	0.2996		0.2992	False		,,,				2504	0.2986				p.A373D		Atlas-SNP	.											.	MICA	21	.	0			c.C1118A						PASS	.	C		524,860		108,308,276	173	157	162			-1.5	0	6	dbSNP_118	162	821,2361		97,627,867	yes	utr-3	MICA	NM_001177519.1		205,935,1143	AA,AC,CC		25.8014,37.8613,29.4569			31382882	1345,3221	692	1591	2283	SO:0001624	3_prime_UTR_variant	100507436	exon7			TGTCAGCTCTTGG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.*123C>A	6.37:g.31382882C>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	162	68	0.419753	NM_000247		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			C|0.666;A|0.334	0.334	strong		0.572	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31382882	C	A	31382882	1	1	23	0	1	0	0	0	0	0	0	0	9568	797	28	4		4	MICA	6	31382882	3'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2724	31382882	139732185	1585	18041			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
MICA	100507436	hgsc.bcm.edu	37	chr6	31382911	31382911	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccactggctccactgagggcAcctagactctacagccaggc	10	16	1	2	rs1882	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31382911A>G	ENST00000449934.2	+	0	1205				HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CACtgagggcacctagactct	0.552													g|||	3622	0.723243	0.6982	0.8112	5008	,	,		14191	0.7778		0.5805	False		,,,				2504	0.7853				p.T383A		Atlas-SNP	.											.	MICA	21	.	0			c.A1147G						PASS	.	A		895,489		295,305,92	107	103	104			-0.9	0	6	dbSNP_36	104	1634,1548		435,764,392	yes	utr-3	MICA	NM_001177519.1		730,1069,484	GG,GA,AA		48.6486,35.3324,44.6124			31382911	2529,2037	692	1591	2283	SO:0001624	3_prime_UTR_variant	100507436	exon7			GAGGGCACCTAGA	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.*152A>G	6.37:g.31382911A>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	119	39	0.327731	NM_000247		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1																																																																																			A|0.320;G|0.680	0.680	strong		0.552	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		G	31382911	A	G	31382911	1	3	23	0	1	0	0	0	0	0	0	0	9568	159	6	2		2	MICA	6	31382911	3'UTR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	29	31382911	139732156	1586	18042			9	78	1466715	9	8	3160	N	GCTG_G_C_A	8.599596e-07
VARS	7407	hgsc.bcm.edu	37	chr6	31748675	31748675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttggccttctccacctcgCtgggatccaggttgctgttc	10	14	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31748675C>T	ENST00000375663.3	-	23	3130	c.2690G>A	c.(2689-2691)aGc>aAc	p.S897N	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	897					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCCACCTCGCTGGGATCCAG	0.652																																					p.S897N		Atlas-SNP	.											VARS,NS,carcinoma,+1,1	VARS	76	1	0			c.G2690A						scavenged	.						85	75	78					6																	31748675		2203	4300	6503	SO:0001583	missense	7407	exon23			ACCTCGCTGGGAT	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2690G>A	6.37:g.31748675C>T	ENSP00000364815:p.Ser897Asn	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	121	2	0.0165289	NM_006295	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464959	0.43839	.	.	ENSG00000204394	ENST00000375663	T	0.04317	3.65	5.01	5.01	0.66863	Aminoacyl-tRNA synthetase, class Ia (1);	0.314348	0.35903	N	0.002918	T	0.01695	0.0054	N	0.16567	0.415	0.80722	D	1	B	0.11235	0.004	B	0.19666	0.026	T	0.46884	-0.9159	10	0.49607	T	0.09	-16.9105	11.5255	0.50578	0.0:0.8195:0.1805:0.0	.	897	P26640	SYVC_HUMAN	N	897	ENSP00000364815:S897N	ENSP00000364815:S897N	S	-	2	0	VARS	31856654	0.996000	0.38824	0.984000	0.44739	0.983000	0.72400	3.399000	0.52586	2.606000	0.88127	0.655000	0.94253	AGC	.	.	none		0.652	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		T	31748675	C	T	31748675	3	4	23	1	0	0	0	0	1	0	0	0	17120	797	28	2	1136	2	VARS	6	31748675	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	365764	31748675	139366392	1587	18043										
CFB	629	hgsc.bcm.edu	37	chr6	31915614	31915614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgatgctgaggatgggcacGgcccaggtttgaagacagag	16	8	0	4	rs4151651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:31915614G>A	ENST00000425368.2	+	5	1267	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Missense_Mutation_p.G754S|CFB_ENST00000477310.1_Missense_Mutation_p.G603S|CFB_ENST00000556679.1_Missense_Mutation_p.G754S	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	252			G -> S (in dbSNP:rs4151651). {ECO:0000269|Ref.7}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGATGGGCACGGCCCAGGTTT	0.567													G|||	51	0.0101837	0.0008	0.0274	5008	,	,		19687	0.0		0.0288	False		,,,				2504	0.002				p.G252S		Atlas-SNP	.											.	CFB	33	.	0			c.G754A						PASS	.	G	SER/GLY	27,2995		0,27,1484	149	161	156		754	2.8	1	6	dbSNP_110	156	211,5207		6,199,2504	yes	missense	CFB	NM_001710.5	56	6,226,3988	AA,AG,GG		3.8944,0.8934,2.8199	benign	252/765	31915614	238,8202	1511	2709	4220	SO:0001583	missense	629	exon5			GGGCACGGCCCAG	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.754G>A	6.37:g.31915614G>A	ENSP00000416561:p.Gly252Ser	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	107	47	0.439252	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	29	0.013278388278388278	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	23	0.030343007915567283	G	4.690	0.128284	0.08981	0.008934	0.038944	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.80566	-1.39;-1.28;-1.39;-1.37	5.21	2.83	0.33086	.	0.292737	0.30043	N	0.010547	T	0.28267	0.0698	N	0.03608	-0.345	0.22156	N	0.999324	B;B;B	0.15473	0.013;0.0;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.36915	-0.9728	10	0.07482	T	0.82	-8.5672	6.7055	0.23248	0.815:0.0:0.185:0.0	rs4151651;rs52792988;rs4151651	754;252;252	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	S	754;252;754;603	ENSP00000451848:G754S;ENSP00000416561:G252S;ENSP00000410815:G754S;ENSP00000418996:G603S	ENSP00000416561:G252S	G	+	1	0	CFB;XXbac-BPG116M5.17	32023593	0.906000	0.30813	1.000000	0.80357	0.966000	0.64601	1.254000	0.32897	0.445000	0.26639	-0.294000	0.09567	GGC	G|0.978;A|0.022	0.022	strong		0.567	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		A	31915614	G	A	31915614	3	1	23	1	0	0	0	0	1	0	0	0	3278	1116	39	1	772	1	CFB	6	31915614	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	166939	31915614	139199453	1588	18044										
TNXB	7148	hgsc.bcm.edu	37	chr6	32029431	32029431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttagctcccccaggagcGgctcctcagggggctccggg	15	15	1	0	rs12524664	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32029431G>A	ENST00000375244.3	-	21	7436	c.7235C>T	c.(7234-7236)cCg>cTg	p.P2412L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2412L			P22105	TENX_HUMAN	tenascin XB	2472	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCAGGAGCGGCTCCTCAGG	0.647													G|||	527	0.105232	0.2012	0.0749	5008	,	,		14003	0.0823		0.0934	False		,,,				2504	0.0327				p.P2412L		Atlas-SNP	.											TNXB_ENST00000375247,NS,carcinoma,+1,2	TNXB	553	2	0			c.C7235T						scavenged	.	G	LEU/PRO	367,1871		29,309,781	46	53	51		7235	4	1	6	dbSNP_120	51	312,4646		6,300,2173	no	missense	TNXB	NM_019105.6	98	35,609,2954	AA,AG,GG		6.2929,16.3986,9.4358	benign	2412/4243	32029431	679,6517	1119	2479	3598	SO:0001583	missense	7148	exon21			AGGAGCGGCTCCT	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7235C>T	6.37:g.32029431G>A	ENSP00000364393:p.Pro2412Leu	Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	99	2	0.020202	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		269	0.12316849816849818	98	0.1991869918699187	38	0.10497237569060773	60	0.1048951048951049	73	0.09630606860158311	G	18.44	3.624587	0.66901	0.163986	0.062929	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61980	0.22;0.06	4.0	4.0	0.46444	.	0.104175	0.43416	D	0.000567	T	0.78947	0.4364	M	0.93150	3.385	0.26478	P	0.9751589	D	0.76494	0.999	D	0.67103	0.949	D	0.85220	0.1026	9	0.87932	D	0	.	13.1106	0.59270	0.0:0.0:1.0:0.0	rs12524664;rs17201532	2412	P22105-3	.	L	2412	ENSP00000364393:P2412L;ENSP00000364396:P2412L	ENSP00000364393:P2412L	P	-	2	0	TNXB	32137409	0.990000	0.36364	0.999000	0.59377	0.792000	0.44763	2.762000	0.47597	2.038000	0.60285	0.591000	0.81541	CCG	G|0.894;A|0.106	0.106	strong		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32029431	G	A	32029431	3	1	23	1	0	0	0	0	1	0	0	0	16343	1116	39	1	7574	1	TNXB	6	32029431	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113817	32029431	139085636	1589	18045										
BTNL2	56244	hgsc.bcm.edu	37	chr6	32362639	32362639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgcacgtggaacagcccGtggctgccttgagtcagggc	15	12	2	1	rs41535850	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32362639G>A	ENST00000374993.1	-	6	1241	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000414363.1_Silent_p.H204H|BTNL2_ENST00000544175.1_Silent_p.H137H|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.H320H|BTNL2_ENST00000540315.1_Silent_p.H204H|BTNL2_ENST00000454136.3_Silent_p.H414H	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	414						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGAACAGCCCGTGGCTGCCTT	0.557													g|||	821	0.163938	0.1422	0.1599	5008	,	,		21164	0.1587		0.163	False		,,,				2504	0.2025				p.H414H		Atlas-SNP	.											.	BTNL2	50	.	0			c.C1242T						PASS	.			551,3855	248.1+/-256.1	28,495,1680	210	203	205		1242	-9.9	0	6	dbSNP_127	205	1241,7359	248.3+/-276.0	92,1057,3151	no	coding-synonymous	BTNL2	NM_019602.1		120,1552,4831	AA,AG,GG		14.4302,12.5057,13.7783		414/456	32362639	1792,11214	2203	4300	6503	SO:0001819	synonymous_variant	56244	exon6			CAGCCCGTGGCTG	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1242C>T	6.37:g.32362639G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	156	76	0.487179	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37																																																																																				G|0.859;A|0.141	0.141	strong		0.557	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		A	32362639	G	A	32362639	2	1	23	1	0	0	0	0	0	0	0	1	1565	1136	40	1		1	BTNL2	6	32362639	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	333208	32362639	138752428	1590	18046										
BTNL2	56244	hgsc.bcm.edu	37	chr6	32362669	32362669	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagtcagggcctgggaagaTgatggtatcgtctttccttc	13	8	2	3	rs41449245	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32362669T>G	ENST00000374993.1	-	6	1211	c.1212A>C	c.(1210-1212)tcA>tcC	p.S404S	BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000414363.1_Silent_p.S194S|BTNL2_ENST00000544175.1_Silent_p.S127S|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.S310S|BTNL2_ENST00000540315.1_Silent_p.S194S|BTNL2_ENST00000454136.3_Silent_p.S404S	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	404						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCTGGGAAGATGATGGTATCG	0.552													t|||	821	0.163938	0.1422	0.1599	5008	,	,		20290	0.1587		0.163	False		,,,				2504	0.2025				p.S404S		Atlas-SNP	.											.	BTNL2	50	.	0			c.A1212C						PASS	.			551,3855	248.1+/-256.1	28,495,1680	233	221	225		1212	-10.2	0	6	dbSNP_127	225	1241,7359	248.3+/-276.0	92,1057,3151	no	coding-synonymous	BTNL2	NM_019602.1		120,1552,4831	GG,GT,TT		14.4302,12.5057,13.7783		404/456	32362669	1792,11214	2203	4300	6503	SO:0001819	synonymous_variant	56244	exon6			GGAAGATGATGGT	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1212A>C	6.37:g.32362669T>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	142	64	0.450704	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37																																																																																				T|0.859;G|0.141	0.141	strong		0.552	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		G	32362669	T	G	32362669	2	3	23	1	0	0	0	0	0	0	0	1	1565	1451	51	5		5	BTNL2	6	32362669	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30	32362669	138752398	1591	18047										
BTNL2	56244	hgsc.bcm.edu	37	chr6	32363816	32363816	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatctatctagaattcttacTtaccaccttcagatccaaac	2	12	4	2	rs2076530	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32363816T>C	ENST00000374993.1	-	5	1077	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000414363.1_Splice_Site_p.S150G|BTNL2_ENST00000544175.1_Splice_Site_p.S83G|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Splice_Site_p.S266G|BTNL2_ENST00000540315.1_Splice_Site_p.S150G|BTNL2_ENST00000454136.3_Splice_Site_p.S360G	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	360			S -> G (in dbSNP:rs2076530).			integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GAATTCTTACTTACCACCTTC	0.413													c|||	1938	0.386981	0.3275	0.4841	5008	,	,		19566	0.2917		0.4473	False		,,,				2504	0.4346				p.S360G		Atlas-SNP	.											.	BTNL2	50	.	0			c.A1078G						PASS	.		GLY/SER	974,2044		154,666,689	54	61	59	http://www.ncbi.nlm.nih.gov/omim/606000,612387|http://omim.org/entry/612387|http://omim.org/entry/606000#0001	1078	3.4	1	6	dbSNP_96	59	2375,3043		510,1355,844	yes	missense-near-splice	BTNL2	NM_019602.1	56	664,2021,1533	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	43.8354,32.273,39.6989	benign	360/456	32363816	3349,5087	1509	2709	4218	SO:0001630	splice_region_variant	56244	exon5			TCTTACTTACCAC	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1078+1A>G	6.37:g.32363816T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	80	33	0.4125	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		824	0.3772893772893773	124	0.25203252032520324	179	0.494475138121547	192	0.3356643356643357	329	0.4340369393139842	c	0.492	-0.875000	0.02550	0.32273	0.438354	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.03468	4.39;4.47;3.92;4.44;4.15	5.2	3.36	0.38483	.	0.328887	0.22150	N	0.063934	T	0.00271	0.0008	N	0.00134	-2.025	0.09310	P	0.9999999999998409	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	8	.	.	.	.	7.0015	0.24813	0.1401:0.7038:0.0:0.1562	rs2076530;rs7746551;rs17202463;rs56415813;rs60534273;rs2076530	150;360	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	G	360;266;150;360;150;83	ENSP00000364134:S266G;ENSP00000390512:S150G;ENSP00000364132:S360G;ENSP00000444714:S150G;ENSP00000443364:S83G	.	S	-	1	0	BTNL2	32471794	1.000000	0.71417	0.995000	0.50966	0.516000	0.34256	1.798000	0.38814	0.783000	0.33636	-1.371000	0.01190	AGT	T|0.628;C|0.372	0.372	strong		0.413	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	Missense_Mutation	C	32363816	T	C	32363816	5	2	23	1	0	0	0	0	0	0	1	0	1565	1623	56	3	297	3	BTNL2	6	32363816	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1147	32363816	138751251	1592	18048										
BTNL2	56244	hgsc.bcm.edu	37	chr6	32363955	32363955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaatggcgtcactcaccagTacagtcctccctctgtactc	6	16	4	0	rs2076529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32363955T>C	ENST00000374993.1	-	5	938	c.939A>G	c.(937-939)gtA>gtG	p.V313V	BTNL2_ENST00000429232.2_Silent_p.V220V|BTNL2_ENST00000414363.1_Silent_p.V103V|BTNL2_ENST00000544175.1_Silent_p.V36V|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.V219V|BTNL2_ENST00000540315.1_Silent_p.V103V|BTNL2_ENST00000454136.3_Silent_p.V313V	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	313	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACTCACCAGTACAGTCCTCC	0.562													c|||	1888	0.376997	0.3268	0.4784	5008	,	,		19952	0.2728		0.4364	False		,,,				2504	0.4192				p.V313V		Atlas-SNP	.											.	BTNL2	50	.	0			c.A939G						PASS	.			970,2052		155,660,696	159	106	125	http://www.ncbi.nlm.nih.gov/pubmed?term	939	-5.6	0	6	dbSNP_96	125	2334,3084		490,1354,865	no	coding-synonymous	BTNL2	NM_019602.1		645,2014,1561	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	43.0786,32.0979,39.1469		313/456	32363955	3304,5136	1511	2709	4220	SO:0001819	synonymous_variant	56244	exon5			CACCAGTACAGTC	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.939A>G	6.37:g.32363955T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	143	70	0.48951	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37																																																																																				T|0.636;C|0.364	0.364	strong		0.562	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		C	32363955	T	C	32363955	2	2	23	1	0	0	0	0	0	0	0	1	1565	1625	57	2		2	BTNL2	6	32363955	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	139	32363955	138751112	1593	18049										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487169	32487169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattccactgtgagagggctCgtcacgcttgggtgctccac	12	13	1	1	rs143127183	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225				p.T210T		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,0,1	HLA-DRB5	31	1	0			c.G630A						scavenged	.						73	83	80					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127	exon3			AGGGCTCGTCACG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.630G>A	6.37:g.32487169C>T		Somatic	81	2	0.0246914		WXS	Illumina HiSeq	Phase_I	89	5	0.0561798	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			C|0.100;T|0.900	0.900	weak		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487169	C	T	32487169	2	4	23	1	0	0	0	0	0	0	0	1	7209	871	31	1		1	HLA-DRB5	6	32487169	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	123214	32487169	138627898	1594	18050										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	11	11	3	1	rs139485758	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309				p.Q178H		Atlas-SNP	.											HLA-DRB5,NS,NS,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	NS(1)	c.G534C						scavenged	.						61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127	exon3			TCCATTCTGAATC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His	Somatic	91	9	0.0989011		WXS	Illumina HiSeq	Phase_I	113	18	0.159292	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	A|0.003;C|0.930;G|0.067	0.067	strong		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	23	1	0	0	0	0	1	0	0	0	7209	912	32	4	282	4	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	96	32487265	138627802	1595	18051										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489749	32489749	+	Silent	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtaggtgtccaccgcggcGcgcctgtcttccaggaagtc					rs1064594		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32489749G>C	ENST00000374975.3	-	2	365	c.303C>G	c.(301-303)cgC>cgG	p.R101R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCACCGCGGCGCGCCTGTCTT	0.662																																					p.R101R		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.C303G						PASS	.	C		2544,1408		1175,194,607	33	29	30		303	-1.5	0	6	dbSNP_86	30	5096,2670		2414,268,1201	no	coding-synonymous	HLA-DRB5	NM_002125.3		3589,462,1808	CC,CG,GG		34.3806,35.6275,34.8012		101/267	32489749	7640,4078	1976	3883	5859	SO:0001819	synonymous_variant	3127	exon2			CGCGGCGCGCCTG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.303C>G	6.37:g.32489749G>C		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	26	25	0.961538	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			G|0.339;C|0.661	0.661	strong		0.662	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489749	G	C	32489749	2	2	23	1	0	0	0	0	0	0	0	1	7209	1074	38	4		4	HLA-DRB5	6	32489749	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2484	32489749	138625318	1596	18052	378	3								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489753	32489753	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgtccaccgcggcgcgcCtgtcttccaggaagtccttc					rs41544215	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32489753C>T	ENST00000374975.3	-	2	361	c.299G>A	c.(298-300)aGg>aAg	p.R100K		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGCGGCGCGCCTGTCTTCCAG	0.662																																					p.R100K		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.G299A						PASS	.	C	LYS/ARG	193,3701		62,69,1816	36	32	33		299	-9.4	0	6	dbSNP_127	33	210,7310		48,114,3598	no	missense	HLA-DRB5	NM_002125.3	26	110,183,5414	TT,TC,CC		2.7926,4.9563,3.5308	benign	100/267	32489753	403,11011	1947	3760	5707	SO:0001583	missense	3127	exon2			GCGCGCCTGTCTT		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.299G>A	6.37:g.32489753C>T	ENSP00000364114:p.Arg100Lys	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	27	25	0.925926	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	92	0.04212454212454213	32	0.06504065040650407	21	0.058011049723756904	9	0.015734265734265736	30	0.0395778364116095	.	4.604	0.112185	0.08831	0.049563	0.027926	ENSG00000198502	ENST00000374975	T	0.00314	8.14	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	5.372110	0.00166	N	0.000006	T	0.00039	0.0001	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.29942	0.006;0.109	T	0.39014	-0.9634	10	0.10636	T	0.68	.	2.9021	0.05709	0.1516:0.3667:0.2298:0.2519	.	27;100	Q29973;Q30154	.;DRB5_HUMAN	K	100	ENSP00000364114:R100K	ENSP00000364114:R100K	R	-	2	0	HLA-DRB5	32597731	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-12.951000	0.00001	-4.402000	0.00051	-2.111000	0.00353	AGG	T|0.078;C|0.922	0.078	strong		0.662	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32489753	C	T	32489753	3	4	23	1	0	0	0	0	1	0	0	0	7209	681	24	2	521	2	HLA-DRB5	6	32489753	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4	32489753	138625314	1597	18053	378	3								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489754	32489754	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgtccaccgcggcgcgccTgtcttccaggaagtccttct					rs41551116|rs201925120	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32489754T>C	ENST00000374975.3	-	2	360	c.298A>G	c.(298-300)Agg>Ggg	p.R100G		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GCGGCGCGCCTGTCTTCCAGG	0.667													T|||	280	0.0559105	0.084	0.0605	5008	,	,		4296	0.0317		0.0626	False		,,,				2504	0.0327				p.R100G		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.A298G						PASS	.						36	32	33					6																	32489754		1942	3732	5674	SO:0001583	missense	3127	exon2			CGCGCCTGTCTTC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.298A>G	6.37:g.32489754T>C	ENSP00000364114:p.Arg100Gly	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	29	27	0.931035	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.336269	0.24253	.	.	ENSG00000198502	ENST00000374975	T	0.00349	7.99	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	5.372110	0.00166	N	0.000006	T	0.00300	0.0009	H	0.95950	3.745	0.09310	N	1	P;B	0.35155	0.487;0.304	B;P	0.58266	0.344;0.836	T	0.48536	-0.9027	10	0.66056	D	0.02	.	0.4687	0.00528	0.2086:0.2516:0.2378:0.302	rs41551116	27;100	Q29973;Q30154	.;DRB5_HUMAN	G	100	ENSP00000364114:R100G	ENSP00000364114:R100G	R	-	1	2	HLA-DRB5	32597732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.530000	0.00062	-5.722000	0.00010	-3.428000	0.00037	AGG	T|0.952;C|0.047	0.047	strong		0.667	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489754	T	C	32489754	3	2	23	1	0	0	0	0	1	0	0	0	7209	1579	55	3	522	3	HLA-DRB5	6	32489754	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1	32489754	138625313	1598	18054	378	3								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489766	32489766	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgcgcctgtcttccaggaAgtccttctggctgttccagt	12	13	2	0	rs41562819		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32489766A>T	ENST00000374975.3	-	2	348	c.286T>A	c.(286-288)Ttc>Atc	p.F96I		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TCTTCCAGGAAGTCCTTCTGG	0.647																																					p.F96I		Atlas-SNP	.											HLA-DRB5,brain,glioma,0,2	HLA-DRB5	31	2	0			c.T286A						PASS	.						39	34	36					6																	32489766		2125	4114	6239	SO:0001583	missense	3127	exon2			CCAGGAAGTCCTT		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.286T>A	6.37:g.32489766A>T	ENSP00000364114:p.Phe96Ile	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	32	28	0.875	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.149	-0.394867	0.04899	.	.	ENSG00000198502	ENST00000374975	T	0.00302	8.2	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	1.726360	0.03614	N	0.235269	T	0.00012	0.0000	N	0.03154	-0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42344	-0.9457	10	0.06099	T	0.92	.	2.9274	0.05788	0.4968:0.1765:0.2165:0.1102	rs41562819	23;96	Q29973;Q30154	.;DRB5_HUMAN	I	96	ENSP00000364114:F96I	ENSP00000364114:F96I	F	-	1	0	HLA-DRB5	32597744	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-11.144000	0.00004	-5.435000	0.00014	-4.131000	0.00010	TTC	G|0.474;A|0.526	.	strong		0.647	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32489766	A	T	32489766	3	4	23	1	0	0	0	0	1	0	0	0	7209	72	3	5	534	5	HLA-DRB5	6	32489766	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12	32489766	138625301	1599	18055										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489791	32489791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctggctgttccagtactcAgcgtcaggccgccccagctc	10	16	3	0	rs41550412		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32489791A>G	ENST00000374975.3	-	2	323	c.261T>C	c.(259-261)gcT>gcC	p.A87A		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TCCAGTACTCAGCGTCAGGCC	0.612																																					p.A87A		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.T261C						PASS	.						41	38	39					6																	32489791		2167	4233	6400	SO:0001819	synonymous_variant	3127	exon2			GTACTCAGCGTCA		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.261T>C	6.37:g.32489791A>G		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	16	12	0.75	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			G|0.633;A|0.367	0.633	strong		0.612	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32489791	A	G	32489791	2	3	23	1	0	0	0	0	0	0	0	1	7209	175	7	3		3	HLA-DRB5	6	32489791	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	25	32489791	138625276	1600	18056										
TAP2	6891	hgsc.bcm.edu	37	chr6	32798548	32798548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttctctgcagctcccacGttgctgagcatatccccata	6	16	1	1	rs1042116	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32798548G>A	ENST00000452392.2	-	8	1481	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	TAP2_ENST00000374897.2_Silent_p.N436N|TAP2_ENST00000374899.4_Silent_p.N436N|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CAGCTCCCACGTTGCTGAGCA	0.522													G|||	214	0.0427316	0.0068	0.0634	5008	,	,		18305	0.0188		0.1183	False		,,,				2504	0.0235				p.N436N		Atlas-SNP	.											.	TAP2	98	.	0			c.C1308T						PASS	.	G	,	90,2932		0,90,1421	54	44	48		1308,1308	-2.4	1	6	dbSNP_86	48	586,4832		28,530,2151	no	coding-synonymous,coding-synonymous	TAP2	NM_000544.3,NM_018833.2	,	28,620,3572	AA,AG,GG		10.8158,2.9782,8.0095	,	436/704,436/654	32798548	676,7764	1511	2709	4220	SO:0001819	synonymous_variant	6891	exon8			TCCCACGTTGCTG	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1308C>T	6.37:g.32798548G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	112	59	0.526786	NM_018833	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37																																																																																				.	.	weak		0.522	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		A	32798548	G	A	32798548	2	1	23	1	0	0	0	0	0	0	0	1	15548	1136	40	1		1	TAP2	6	32798548	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	308757	32798548	138316519	1601	18057										
PSMB8	5696	hgsc.bcm.edu	37	chr6	32811629	32811629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttccctactgccccgacctGcattccccggggtaaagcga	9	17	0	0	rs2071543	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:32811629G>T	ENST00000374882.3	-	1	195	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	PSMB8_ENST00000395339.3_Missense_Mutation_p.Q49K|PSMB9_ENST00000395330.1_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000374881.2_Intron	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	49			Q -> K (in dbSNP:rs2071543). {ECO:0000269|Ref.7}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	GCCCCGACCTGCATTCCCCGG	0.667													G|||	761	0.151957	0.0961	0.1888	5008	,	,		15795	0.1677		0.1471	False		,,,				2504	0.1902				p.Q49K	NSCLC(48;53 1172 10859 13624 22883)	Atlas-SNP	.											.	PSMB8	42	.	0			c.C145A	GRCh37	CM014742	PSMB8	M	rs2071543	PASS	.	G	,LYS/GLN	349,2669		26,297,1186	75	96	88		,145	5.6	1	6	dbSNP_96	88	723,4693		47,629,2032	yes	intron,missense	PSMB8	NM_004159.4,NM_148919.3	,53	73,926,3218	TT,TG,GG		13.3493,11.5639,12.7105	,benign	,49/277	32811629	1072,7362	1509	2708	4217	SO:0001583	missense	5696	exon1			CGACCTGCATTCC		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.145C>A	6.37:g.32811629G>T	ENSP00000364016:p.Gln49Lys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	50	19	0.38	NM_148919	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	CCDS4757.1	311	0.1423992673992674	37	0.07520325203252033	60	0.16574585635359115	98	0.17132867132867133	116	0.15303430079155672	G	17.49	3.403017	0.62288	0.115639	0.133493	ENSG00000204264	ENST00000395339;ENST00000374882	T;T	0.38077	1.16;1.88	5.64	5.64	0.86602	.	0.173730	0.50627	D	0.000108	T	0.26304	0.0642	M	0.69823	2.125	0.09310	P	1.0	B;B	0.28880	0.226;0.0	B;B	0.28638	0.092;0.001	T	0.08106	-1.0738	9	0.31617	T	0.26	-27.3219	15.5538	0.76173	0.0:0.0:1.0:0.0	rs2071543;rs11540145;rs52809374;rs57969734;rs2071543	49;49	B7Z6U7;P28062	.;PSB8_HUMAN	K	49	ENSP00000378748:Q49K;ENSP00000364016:Q49K	ENSP00000364016:Q49K	Q	-	1	0	PSMB8	32919607	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.246000	0.58740	2.817000	0.96982	0.643000	0.83706	CAG	G|0.865;T|0.135	0.135	strong		0.667	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		T	32811629	G	T	32811629	3	4	23	1	0	0	0	0	1	0	0	0	12683	1328	46	4	709	4	PSMB8	6	32811629	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13081	32811629	138303438	1602	18058										
WDR46	9277	hgsc.bcm.edu	37	chr6	33256653	33256653	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggacctgaggcttcttagaGatccgagacttctttaagat	11	8	2	4	rs34931270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:33256653G>A	ENST00000374617.4	-	2	563	c.207C>T	c.(205-207)atC>atT	p.I69I	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	69							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTTCTTAGAGATCCGAGACT	0.577													G|||	67	0.0133786	0.0015	0.0144	5008	,	,		16163	0.002		0.0249	False		,,,				2504	0.0286				p.I69I		Atlas-SNP	.											.	WDR46	43	.	0			c.C207T						PASS	.	G	,	25,4381	29.0+/-57.7	0,25,2178	43	47	46		,207	3.1	0.8	6	dbSNP_126	46	334,8266	113.1+/-173.2	6,322,3972	no	intron,coding-synonymous	WDR46	NM_001164267.1,NM_005452.5	,	6,347,6150	AA,AG,GG		3.8837,0.5674,2.7603	,	,69/611	33256653	359,12647	2203	4300	6503	SO:0001819	synonymous_variant	9277	exon2			CTTAGAGATCCGA	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.207C>T	6.37:g.33256653G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_005452	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	CCDS4772.1																																																																																			G|0.977;A|0.023	0.023	strong		0.577	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		A	33256653	G	A	33256653	2	1	23	1	0	0	0	0	0	0	0	1	17296	932	33	2		2	WDR46	6	33256653	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	445024	33256653	137858414	1603	18059										
KIFC1	3833	hgsc.bcm.edu	37	chr6	33374422	33374422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctacctgctgcagaactcTctgggtggtagtgctaagat	11	10	1	2	rs371316441		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:33374422T>C	ENST00000428849.2	+	9	2331	c.1881T>C	c.(1879-1881)tcT>tcC	p.S627S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	627	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.S627S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGCAGAACTCTCTGGGTGGTA	0.527																																					p.S627S		Atlas-SNP	.											KIFC1,rectum,carcinoma,0,1	KIFC1	47	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T1881C						scavenged	.	T		2,4404	4.2+/-10.8	0,2,2201	141	131	135		1881	0.1	1	6		135	0,8600		0,0,4300	no	coding-synonymous	KIFC1	NM_002263.3		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		627/674	33374422	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3833	exon9			GAACTCTCTGGGT	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1881T>C	6.37:g.33374422T>C		Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_002263	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	37	CCDS34430.1																																																																																			.	.	weak		0.527	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		C	33374422	T	C	33374422	2	2	23	1	0	0	0	0	0	0	0	1	8312	1538	54	3		3	KIFC1	6	33374422	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	117769	33374422	137740645	1604	18060										
UHRF1BP1	54887	hgsc.bcm.edu	37	chr6	34824107	34824107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgatggaatttcagagcaaAatggagaagtggcatgaaga	14	3	1	5	rs16894945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:34824107A>C	ENST00000192788.5	+	10	1383	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K404N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	404			K -> N (in dbSNP:rs16894945).				histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCAGAGCAAAATGGAGAAGT	0.532													A|||	555	0.110823	0.0333	0.0778	5008	,	,		19096	0.3016		0.0606	False		,,,				2504	0.0941				p.K404N		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.A1212C						PASS	.	A	ASN/LYS	146,3810		2,142,1834	141	147	145		1212	2.4	1	6	dbSNP_123	145	483,7845		14,455,3695	yes	missense	UHRF1BP1	NM_017754.3	94	16,597,5529	CC,CA,AA		5.7997,3.6906,5.1205	possibly-damaging	404/1441	34824107	629,11655	1978	4164	6142	SO:0001583	missense	54887	exon10			GAGCAAAATGGAG	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1212A>C	6.37:g.34824107A>C	ENSP00000192788:p.Lys404Asn	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	155	62	0.4	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	266	0.12179487179487179	9	0.018292682926829267	27	0.07458563535911603	179	0.3129370629370629	51	0.06728232189973615	A	8.795	0.931551	0.18131	0.036906	0.057997	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08282	3.11;3.11	5.97	2.38	0.29361	.	0.168355	0.52532	D	0.000080	T	0.00815	0.0027	N	0.08118	0	0.31396	P	0.6772210000000001	B	0.21821	0.061	B	0.17979	0.02	T	0.47649	-0.9101	9	0.02654	T	1	-6.3855	5.7378	0.18077	0.5021:0.0:0.4979:0.0	rs16894945;rs59701345;rs16894945	404	Q6BDS2	URFB1_HUMAN	N	404	ENSP00000192788:K404N;ENSP00000400628:K404N	ENSP00000192788:K404N	K	+	3	2	UHRF1BP1	34932085	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.941000	0.40233	0.527000	0.28560	0.533000	0.62120	AAA	A|0.884;C|0.116	0.116	strong		0.532	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		C	34824107	A	C	34824107	3	2	23	1	0	0	0	0	1	0	0	0	16965	11	1	5	1250	5	UHRF1BP1	6	34824107	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1449685	34824107	136290960	1605	18061										
TULP1	7287	hgsc.bcm.edu	37	chr6	35477032	35477032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttttgattgctcttctttAtcaccgtagctgcctcctcc	5	15	3	1	rs2064317	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:35477032A>G	ENST00000229771.6	-	8	855	c.776T>C	c.(775-777)aTa>aCa	p.I259T	TULP1_ENST00000322263.4_Missense_Mutation_p.I206T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	259			I -> T (in dbSNP:rs2064317). {ECO:0000269|PubMed:17962469}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I259T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCTTCTTTATCACCGTAGC	0.587													G|||	1973	0.39397	0.3449	0.3329	5008	,	,		19111	0.499		0.3648	False		,,,				2504	0.4254				p.I259T	GBM(55;1027 1091 11115 23439)	Atlas-SNP	.											TULP1,NS,carcinoma,0,1	TULP1	51	1	1	Substitution - Missense(1)	stomach(1)	c.T776C						PASS	.	G	THR/ILE	1564,2842	669.1+/-402.1	254,1056,893	371	345	354	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	776	3.6	0.3	6	dbSNP_94	354	3190,5410	653.8+/-401.1	609,1972,1719	yes	missense	TULP1	NM_003322.3	89	863,3028,2612	GG,GA,AA		37.093,35.497,36.5524	benign	259/543	35477032	4754,8252	2203	4300	6503	SO:0001583	missense	7287	exon8			TTCTTTATCACCG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.776T>C	6.37:g.35477032A>G	ENSP00000229771:p.Ile259Thr	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	107	44	0.411215	NM_003322	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	837	0.38324175824175827	172	0.34959349593495936	137	0.3784530386740331	256	0.44755244755244755	272	0.35883905013192613	G	0.004	-2.320881	0.00232	0.35497	0.37093	ENSG00000112041	ENST00000229771;ENST00000322263	T;T	0.79352	-1.25;-1.26	4.5	3.62	0.41486	.	0.891546	0.09851	N	0.747564	T	0.16128	0.0388	N	0.00413	-1.525	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.11966	-1.0566	9	0.02654	T	1	-11.6502	6.4263	0.21772	0.2277:0.0:0.7723:0.0	rs2064317;rs41539122;rs41539440;rs41539748;rs45630406;rs45632076;rs57520700;rs61726639;rs2064317	206;259	O00294-2;O00294	.;TULP1_HUMAN	T	259;206	ENSP00000229771:I259T;ENSP00000319414:I206T	ENSP00000229771:I259T	I	-	2	0	TULP1	35585010	0.662000	0.27439	0.260000	0.24451	0.137000	0.21094	0.696000	0.25541	0.513000	0.28278	-0.355000	0.07637	ATA	A|0.642;G|0.358	0.358	strong		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			G	35477032	A	G	35477032	3	3	23	1	0	0	0	0	1	0	0	0	16770	449	16	2	884	2	TULP1	6	35477032	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	652925	35477032	135638035	1606	18062										
SLC26A8	116369	hgsc.bcm.edu	37	chr6	35960390	35960390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagcagccaggtaagcaCtcattgcagactccggaagg	11	13	1	1	rs17707331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:35960390C>T	ENST00000490799.1	-	6	1042	c.689G>A	c.(688-690)aGt>aAt	p.S230N	SLC26A8_ENST00000355574.2_Missense_Mutation_p.S230N|SLC26A8_ENST00000394602.2_Intron	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CAGGTAAGCACTCATTGCAGA	0.478													C|||	448	0.0894569	0.0325	0.1383	5008	,	,		20612	0.0506		0.1402	False		,,,				2504	0.1196				p.S230N		Atlas-SNP	.											.	SLC26A8	95	.	0			c.G689A						PASS	.	C	ASN/SER,ASN/SER,	188,4218	118.8+/-156.5	3,182,2018	133	125	128		689,689,	3.3	0.7	6	dbSNP_123	128	1143,7457	234.3+/-267.3	89,965,3246	yes	missense,missense,intron	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	46,46,	92,1147,5264	TT,TC,CC		13.2907,4.2669,10.2337	benign,benign,	230/971,230/971,	35960390	1331,11675	2203	4300	6503	SO:0001583	missense	116369	exon6			TAAGCACTCATTG	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.689G>A	6.37:g.35960390C>T	ENSP00000417638:p.Ser230Asn	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_052961		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	221	0.10119047619047619	22	0.044715447154471545	60	0.16574585635359115	34	0.05944055944055944	105	0.13852242744063326	C	0.032	-1.328172	0.01309	0.042669	0.132907	ENSG00000112053	ENST00000490799;ENST00000355574	D;D	0.93859	-3.3;-3.3	5.26	3.26	0.37387	Sulphate transporter (1);	0.337905	0.28790	N	0.014127	T	0.75635	0.3876	L	0.28054	0.825	0.38754	P	0.04583300000000001	B	0.18863	0.031	B	0.19946	0.027	T	0.61083	-0.7134	9	0.28530	T	0.3	.	4.1904	0.10417	0.0:0.4915:0.0:0.5085	rs17707331;rs52836854;rs17707331	230	Q96RN1	S26A8_HUMAN	N	230	ENSP00000417638:S230N;ENSP00000347778:S230N	ENSP00000347778:S230N	S	-	2	0	SLC26A8	36068368	0.310000	0.24527	0.680000	0.29994	0.068000	0.16541	-0.214000	0.09292	0.501000	0.28013	0.655000	0.94253	AGT	C|0.898;N|0.000	.	strong		0.478	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35960390	C	T	35960390	3	4	23	1	0	0	0	0	1	0	0	0	14523	565	20	2	2283	2	SLC26A8	6	35960390	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	483358	35960390	135154677	1607	18063										
SLC26A8	116369	hgsc.bcm.edu	37	chr6	35967772	35967772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagtgctgaactcaccaaTggacatttgatgacacgatc	8	10	2	3	rs17713154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:35967772T>C	ENST00000490799.1	-	4	795	c.442A>G	c.(442-444)Att>Gtt	p.I148V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.I148V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I148V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AACTCACCAATGGACATTTGA	0.393													T|||	525	0.104832	0.0885	0.1427	5008	,	,		18752	0.0506		0.1402	False		,,,				2504	0.1196				p.I148V		Atlas-SNP	.											SLC26A8,colon,carcinoma,+2,1	SLC26A8	95	1	0			c.A442G						scavenged	.	T	VAL/ILE,VAL/ILE,VAL/ILE	396,4010	196.4+/-220.7	15,366,1822	164	167	166		442,442,442	1.7	1	6	dbSNP_123	166	1145,7455	234.6+/-267.5	90,965,3245	yes	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	29,29,29	105,1331,5067	CC,CT,TT		13.314,8.9877,11.8484	benign,benign,benign	148/971,148/971,148/866	35967772	1541,11465	2203	4300	6503	SO:0001583	missense	116369	exon4			CACCAATGGACAT	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.442A>G	6.37:g.35967772T>C	ENSP00000417638:p.Ile148Val	Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	63	29	0.460317	NM_052961		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	236	0.10805860805860806	36	0.07317073170731707	62	0.1712707182320442	33	0.057692307692307696	105	0.13852242744063326	T	7.036	0.561555	0.13498	0.089877	0.13314	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.90444	-2.67;-2.67;-2.67	5.4	1.73	0.24493	.	0.168304	0.42420	N	0.000709	T	0.56411	0.1983	N	0.12853	0.265	0.31338	P	0.6840010000000001	P;B	0.38129	0.619;0.336	B;B	0.33890	0.172;0.075	T	0.59413	-0.7459	9	0.06365	T	0.9	.	6.6044	0.22718	0.0:0.2787:0.0:0.7213	rs17713154;rs52813917;rs17713154	148;148	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	V	148	ENSP00000417638:I148V;ENSP00000378100:I148V;ENSP00000347778:I148V	ENSP00000347778:I148V	I	-	1	0	SLC26A8	36075750	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.851000	0.27751	0.443000	0.26582	0.533000	0.62120	ATT	T|0.887;C|0.113	0.113	strong		0.393	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			C	35967772	T	C	35967772	3	2	23	1	0	0	0	0	1	0	0	0	14523	1464	51	2	2538	2	SLC26A8	6	35967772	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7382	35967772	135147295	1608	18064										
PNPLA1	285848	hgsc.bcm.edu	37	chr6	36238357	36238357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgcgggacctggcccccCggatgctggaaacagcccac	12	18	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:36238357C>T	ENST00000394571.2	+	1	121	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	PNPLA1_ENST00000388715.3_Intron|PNPLA1_ENST00000312917.5_Intron	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	41	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCTGGCCCCCCGGATGCTGGA	0.662																																					p.R41W		Atlas-SNP	.											PNPLA1_ENST00000394571,NS,carcinoma,0,2	PNPLA1	92	2	0			c.C121T						scavenged	.						18	23	21					6																	36238357		692	1591	2283	SO:0001583	missense	285848	exon1			GCCCCCCGGATGC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.121C>T	6.37:g.36238357C>T	ENSP00000378072:p.Arg41Trp	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	229	3	0.0131004	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454761	0.63290	.	.	ENSG00000180316	ENST00000457797;ENST00000394571	T;T	0.80824	-1.42;-1.42	4.42	3.51	0.40186	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.150937	0.27147	U	0.020715	T	0.64972	0.2647	M	0.62723	1.935	0.30069	N	0.810181	P	0.44478	0.836	B	0.43867	0.434	T	0.59284	-0.7483	10	0.38643	T	0.18	-15.4586	7.1262	0.25473	0.2038:0.6141:0.1821:0.0	.	41	Q8N8W4	PLPL1_HUMAN	W	41	ENSP00000391868:R41W;ENSP00000378072:R41W	ENSP00000378072:R41W	R	+	1	2	PNPLA1	36346335	0.232000	0.23762	1.000000	0.80357	0.971000	0.66376	0.223000	0.17719	0.790000	0.33803	0.467000	0.42956	CGG	.	.	none		0.662	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		T	36238357	C	T	36238357	3	4	23	1	0	0	0	0	1	0	0	0	12164	643	23	1	123	1	PNPLA1	6	36238357	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	270585	36238357	134876710	1609	18065										
PNPLA1	285848	hgsc.bcm.edu	37	chr6	36270130	36270130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcaggcacccacttcacCcaggccatccctggggcctt	8	19	2	0	rs12199580	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:36270130C>A	ENST00000394571.2	+	6	1268	c.1268C>A	c.(1267-1269)cCc>cAc	p.P423H	PNPLA1_ENST00000388715.3_Missense_Mutation_p.P328H|PNPLA1_ENST00000312917.5_Missense_Mutation_p.P337H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	423	Pro-rich.		P -> H (in dbSNP:rs12199580). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACTTCACCCAGGCCATCC	0.607											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1414	0.282348	0.1679	0.5231	5008	,	,		20276	0.1756		0.4036	False		,,,				2504	0.2515				p.P423H		Atlas-SNP	.											PNPLA1,back,malignant_melanoma,-1,1	PNPLA1	92	1	0			c.C1268A						scavenged	.	C	HIS/PRO,HIS/PRO,HIS/PRO	913,3493	351.3+/-311.2	103,707,1393	131	118	122		1010,1268,983	1.7	0	6	dbSNP_120	122	3723,4877	530.7+/-381.8	819,2085,1396	yes	missense,missense,missense	PNPLA1	NM_001145716.1,NM_001145717.1,NM_173676.2	77,77,77	922,2792,2789	AA,AC,CC		43.2907,20.7217,35.6451	benign,benign,benign	337/447,423/533,328/438	36270130	4636,8370	2203	4300	6503	SO:0001583	missense	285848	exon6			CTTCACCCAGGCC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1268C>A	6.37:g.36270130C>A	ENSP00000378072:p.Pro423His	Somatic	106	1	0.00943396	861	WXS	Illumina HiSeq	Phase_I	112	49	0.4375	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	736	0.336996336996337	81	0.16463414634146342	193	0.5331491712707183	138	0.24125874125874125	324	0.42744063324538256	C	10.48	1.363188	0.24684	0.207217	0.432907	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.35605	1.32;1.31;1.3;1.3	4.64	1.74	0.24563	.	0.692649	0.12534	N	0.460552	T	0.08447	0.0210	N	0.19112	0.55	0.80722	P	0.0	B;B	0.20261	0.005;0.043	B;B	0.21546	0.005;0.035	T	0.22208	-1.0223	9	0.42905	T	0.14	-1.6793	5.3121	0.15835	0.3599:0.5418:0.0:0.0983	rs12199580;rs58373772;rs12199580	423;337	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	H	328;337;424;423	ENSP00000373367:P328H;ENSP00000321116:P337H;ENSP00000391868:P424H;ENSP00000378072:P423H	ENSP00000321116:P337H	P	+	2	0	PNPLA1	36378108	0.004000	0.15560	0.002000	0.10522	0.121000	0.20230	0.074000	0.14662	0.112000	0.17975	0.650000	0.86243	CCC	C|0.661;A|0.339	0.339	strong		0.607	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		A	36270130	C	A	36270130	3	1	23	1	0	0	0	0	1	0	0	0	12164	623	22	4	1317	4	PNPLA1	6	36270130	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31773	36270130	134844937	1610	18066										
PI16	221476	hgsc.bcm.edu	37	chr6	36930814	36930814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactctaggaaaatgggtacTccttcttccctagcaacggg	10	11	2	0	rs41272198	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:36930814T>C	ENST00000373674.3	+	5	1024	c.696T>C	c.(694-696)acT>acC	p.T232T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	232					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATGGGTACTCCTTCTTCCC	0.567													T|||	347	0.0692891	0.0174	0.1066	5008	,	,		18940	0.005		0.168	False		,,,				2504	0.0777				p.T232T		Atlas-SNP	.											.	PI16	50	.	0			c.T696C						PASS	.	T	,	199,4207	124.9+/-162.1	5,189,2009	98	91	93		696,696	-2.2	0	6	dbSNP_127	93	1275,7325	252.5+/-278.5	110,1055,3135	no	coding-synonymous,coding-synonymous	PI16	NM_001199159.1,NM_153370.2	,	115,1244,5144	CC,CT,TT		14.8256,4.5166,11.3332	,	232/464,232/464	36930814	1474,11532	2203	4300	6503	SO:0001819	synonymous_variant	221476	exon6			GGGTACTCCTTCT		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.696T>C	6.37:g.36930814T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	98	40	0.408163	NM_001199159	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	CCDS34440.1																																																																																			T|0.893;C|0.107	0.107	strong		0.567	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		C	36930814	T	C	36930814	2	2	23	1	0	0	0	0	0	0	0	1	11869	1538	54	3		3	PI16	6	36930814	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	660684	36930814	134184253	1611	18067										
FGD2	221472	hgsc.bcm.edu	37	chr6	36988364	36988364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccactccttcctggtgtcCgggaagcagcgcaccctgga	11	17	0	0	rs831504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:36988364C>T	ENST00000274963.8	+	10	1341	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	390	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TCCTGGTGTCCGGGAAGCAGC	0.642													C|||	2793	0.557708	0.612	0.5548	5008	,	,		16624	0.4831		0.492	False		,,,				2504	0.6309				p.S390S		Atlas-SNP	.											.	FGD2	65	.	0			c.C1170T						PASS	.	C		2604,1802	611.4+/-391.8	773,1058,372	33	31	32		1170	-10.9	0.2	6	dbSNP_86	32	4259,4341	548.0+/-385.3	1058,2143,1099	no	coding-synonymous	FGD2	NM_173558.3		1831,3201,1471	TT,TC,CC		49.5233,40.8988,47.232		390/656	36988364	6863,6143	2203	4300	6503	SO:0001819	synonymous_variant	221472	exon10			GGTGTCCGGGAAG	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.1170C>T	6.37:g.36988364C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_173558	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	CCDS4829.1																																																																																			C|0.467;T|0.533	0.533	strong		0.642	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		T	36988364	C	T	36988364	2	4	23	1	0	0	0	0	0	0	0	1	5833	639	23	1		1	FGD2	6	36988364	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	57550	36988364	134126703	1612	18068										
MDGA1	266727	hgsc.bcm.edu	37	chr6	37626142	37626142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcagcgtctcgttgaacacCgatgtctcctggaacttgtc	10	13	2	1	rs2273110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:37626142C>T	ENST00000434837.3	-	3	1439	c.261G>A	c.(259-261)tcG>tcA	p.S87S	MDGA1_ENST00000297153.7_Silent_p.S87S|MDGA1_ENST00000505425.1_Silent_p.S87S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	87	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGTTGAACACCGATGTCTCCT	0.647													C|||	681	0.135982	0.0454	0.1499	5008	,	,		17612	0.1627		0.1988	False		,,,				2504	0.1564				p.S87S		Atlas-SNP	.											.	MDGA1	104	.	0			c.G261A						PASS	.	C		294,3960		12,270,1845	86	95	92		261	-4.2	0.8	6	dbSNP_100	92	1645,6795		162,1321,2737	no	coding-synonymous	MDGA1	NM_153487.3		174,1591,4582	TT,TC,CC		19.4905,6.9111,15.2749		87/956	37626142	1939,10755	2127	4220	6347	SO:0001819	synonymous_variant	266727	exon3			GAACACCGATGTC	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.261G>A	6.37:g.37626142C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	50	23	0.46	NM_153487	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																			C|0.849;T|0.151	0.151	strong		0.647	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			T	37626142	C	T	37626142	2	4	23	1	0	0	0	0	0	0	0	1	9406	639	23	1		1	MDGA1	6	37626142	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	637778	37626142	133488925	1613	18069										
GLO1	2739	hgsc.bcm.edu	37	chr6	38650588	38650588	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacaggcaaacttaccgaaTcctcgagggtctgaattgcc	9	11	1	1	rs1130534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:38650588T>A	ENST00000373365.4	-	4	458	c.372A>T	c.(370-372)ggA>ggT	p.G124G	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	124					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	ACTTACCGAATCCTCGAGGGT	0.348													T|||	1176	0.234824	0.3525	0.1643	5008	,	,		16878	0.2312		0.1272	False		,,,				2504	0.2403				p.G124G		Atlas-SNP	.											.	GLO1	12	.	0			c.A372T						PASS	.	T		1334,3072	446.3+/-348.0	215,904,1084	142	119	127		372	1.9	1	6	dbSNP_86	127	1001,7599	215.6+/-254.9	61,879,3360	no	coding-synonymous	GLO1	NM_006708.2		276,1783,4444	AA,AT,TT		11.6395,30.2769,17.9533		124/185	38650588	2335,10671	2203	4300	6503	SO:0001819	synonymous_variant	2739	exon4			ACCGAATCCTCGA	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.372A>T	6.37:g.38650588T>A		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_006708	B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	CCDS4837.1																																																																																			T|0.811;A|0.189	0.189	strong		0.348	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		A	38650588	T	A	38650588	2	1	23	1	0	0	0	0	0	0	0	1	6449	1422	50	5		5	GLO1	6	38650588	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1024446	38650588	132464479	1614	18070										
KCNK16	83795	hgsc.bcm.edu	37	chr6	39284148	39284148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggatcagcgccagccacgcCaggcccaggaggatccagat	13	14	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:39284148C>T	ENST00000373229.5	-	5	745	c.732G>A	c.(730-732)ctG>ctA	p.L244L	KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000437525.2_Silent_p.L244L|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	244					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)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGCCACGCCAGGCCCAGGA	0.627																																					p.L244L		Atlas-SNP	.											.	KCNK16	59	.	0			c.G732A						PASS	.						32	34	33					6																	39284148		2203	4300	6503	SO:0001819	synonymous_variant	83795	exon5			CCACGCCAGGCCC	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.732G>A	6.37:g.39284148C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	89	46	0.516854	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	CCDS4843.1																																																																																			.	.	none		0.627	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39284148	C	T	39284148	2	4	23	1	0	0	0	0	0	0	0	1	8063	581	21	2		2	KCNK16	6	39284148	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	633560	39284148	131830919	1615	18071										
KCNK16	83795	hgsc.bcm.edu	37	chr6	39290200	39290200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtccctggactgagcctcCgcctgcctctctagcagctg	11	16	1	1	rs3734619	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:39290200C>T	ENST00000373229.5	-	1	130	c.117G>A	c.(115-117)gcG>gcA	p.A39A	KCNK16_ENST00000437525.2_Silent_p.A39A|KCNK16_ENST00000373227.4_Silent_p.A39A|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000425054.2_Silent_p.A39A	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	39					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)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						ACTGAGCCTCCGCCTGCCTCT	0.617													C|||	1934	0.386182	0.5386	0.4049	5008	,	,		19138	0.3681		0.3628	False		,,,				2504	0.2096				p.A39A		Atlas-SNP	.											KCNK16_ENST00000425054,NS,carcinoma,-1,2	KCNK16	59	2	0			c.G117A						PASS	.	C	,,,	2177,2229	578.1+/-384.6	552,1073,578	46	40	42		117,117,117,117	-11.8	0.1	6	dbSNP_107	42	3304,5296	486.2+/-371.8	638,2028,1634	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNK16	NM_001135105.1,NM_001135106.1,NM_001135107.1,NM_032115.3	,,,	1190,3101,2212	TT,TC,CC		38.4186,49.4099,42.1421	,,,	39/323,39/295,39/263,39/310	39290200	5481,7525	2203	4300	6503	SO:0001819	synonymous_variant	83795	exon1			AGCCTCCGCCTGC	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.117G>A	6.37:g.39290200C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	85	37	0.435294	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	CCDS4843.1																																																																																			C|0.591;T|0.409	0.409	strong		0.617	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39290200	C	T	39290200	2	4	23	1	0	0	0	0	0	0	0	1	8063	639	23	1		1	KCNK16	6	39290200	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6052	39290200	131824867	1616	18072										
KIF6	221458	hgsc.bcm.edu	37	chr6	39325078	39325078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttagagaggagttgggaccAttcatgctgggagtcagatg	16	5	2	2	rs20455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:39325078A>G	ENST00000287152.7	-	19	2249	c.2155T>C	c.(2155-2157)Tgg>Cgg	p.W719R	KIF6_ENST00000373216.3_Missense_Mutation_p.W719R|KIF6_ENST00000394362.1_Missense_Mutation_p.W170R|KIF6_ENST00000229913.5_Missense_Mutation_p.W170R|KIF6_ENST00000373213.4_Missense_Mutation_p.W558R|KIF6_ENST00000541946.1_Missense_Mutation_p.W170R|KIF6_ENST00000538893.1_Missense_Mutation_p.W663R|KIF6_ENST00000373215.3_Missense_Mutation_p.W702R	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	719			W -> R (in dbSNP:rs20455). {ECO:0000269|PubMed:14702039}.		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)	p.W719R(1)		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						AGTTGGGACCATTCATGCTGG	0.473													G|||	2703	0.539736	0.854	0.3343	5008	,	,		15961	0.5238		0.3628	False		,,,				2504	0.4591				p.W719R		Atlas-SNP	.											KIF6_ENST00000287152,NS,carcinoma,0,1	KIF6	233	1	1	Substitution - Missense(1)	stomach(1)	c.T2155C	GRCh37	CM074911	KIF6	M	rs20455	scavenged	.	G	ARG/TRP	3444,962	362.4+/-316.1	1365,714,124	162	150	154		2155	0.5	0	6	dbSNP_67	154	3078,5522	660.5+/-401.8	573,1932,1795	yes	missense	KIF6	NM_145027.4	101	1938,2646,1919	GG,GA,AA		35.7907,21.8339,49.8539	benign	719/815	39325078	6522,6484	2203	4300	6503	SO:0001583	missense	221458	exon19			GGGACCATTCATG	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.2155T>C	6.37:g.39325078A>G	ENSP00000287152:p.Trp719Arg	Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	171	80	0.467836	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	1071	0.49038461538461536	400	0.8130081300813008	132	0.36464088397790057	278	0.486013986013986	261	0.34432717678100266	G	0.234	-1.018519	0.02078	0.781661	0.357907	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946	T;T;T;T;T;T;T;T	0.70045	-0.39;1.63;-0.43;-0.21;1.71;-0.4;-0.45;1.68	4.56	0.525	0.17072	.	.	.	.	.	T	0.09335	0.0230	N	0.01352	-0.895	0.80722	P	0.0	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	0.11012	-1.0605	8	0.11485	T	0.65	.	0.7034	0.00911	0.3077:0.1367:0.3643:0.1913	rs20455;rs16891985;rs56572561;rs58306844;rs20455	702;663;719;719	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	R	719;170;719;558;170;702;663;170	ENSP00000287152:W719R;ENSP00000377889:W170R;ENSP00000362312:W719R;ENSP00000362309:W558R;ENSP00000229913:W170R;ENSP00000362311:W702R;ENSP00000441435:W663R;ENSP00000439064:W170R	ENSP00000229913:W170R	W	-	1	0	KIF6	39433056	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.021000	0.13489	-0.250000	0.09555	-0.735000	0.03563	TGG	A|0.497;G|0.503	0.503	strong		0.473	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		G	39325078	A	G	39325078	3	3	23	1	0	0	0	0	1	0	0	0	8308	217	8	2	309	2	KIF6	6	39325078	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	34878	39325078	131789989	1617	18073										
DAAM2	23500	hgsc.bcm.edu	37	chr6	39851818	39851818	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctagaggattttgaaaaGatgttttcagcctaccagag	10	7	1	4	rs3003929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:39851818G>A	ENST00000398904.2	+	15	2108	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	DAAM2_ENST00000274867.4_Silent_p.K642K|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Silent_p.K642K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	642	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTGAAAAGATGTTTTCAG	0.483													A|||	3016	0.602236	0.4622	0.5504	5008	,	,		19954	0.749		0.5765	False		,,,				2504	0.7035				p.K642K		Atlas-SNP	.											.	DAAM2	101	.	0			c.G1926A						PASS	.	A	,	1900,1906		487,926,490	81	77	78		1926,1926	2.2	1	6	dbSNP_101	78	4669,3559		1309,2051,754	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	1796,2977,1244	AA,AG,GG		43.2547,49.9212,45.413	,	642/1069,642/1068	39851818	6569,5465	1903	4114	6017	SO:0001819	synonymous_variant	23500	exon15			TGAAAAGATGTTT	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1926G>A	6.37:g.39851818G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	109	108	0.990826	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	CCDS56426.1																																																																																			G|0.407;A|0.593	0.593	strong		0.483	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39851818	G	A	39851818	2	1	23	1	0	0	0	0	0	0	0	1	4216	933	33	2		2	DAAM2	6	39851818	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	526740	39851818	131263249	1618	18074										
DAAM2	23500	hgsc.bcm.edu	37	chr6	39855288	39855288	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgggctccactgaagacatCtacctggcttcccgcaaggt	10	14	1	2	rs35383047	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:39855288C>A	ENST00000398904.2	+	16	2162	c.1980C>A	c.(1978-1980)atC>atA	p.I660I	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.I660I|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Silent_p.I660I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	660	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGAAGACATCTACCTGGCTT	0.537													C|||	793	0.158347	0.2753	0.1009	5008	,	,		18699	0.1806		0.0626	False		,,,				2504	0.1166				p.I660I		Atlas-SNP	.											.	DAAM2	101	.	0			c.C1980A						PASS	.	C	,	853,3023		90,673,1175	64	69	67		1980,1980	4.5	1	6	dbSNP_126	67	406,7864		12,382,3741	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	102,1055,4916	AA,AC,CC		4.9093,22.0072,10.3656	,	660/1069,660/1068	39855288	1259,10887	1938	4135	6073	SO:0001819	synonymous_variant	23500	exon16			AGACATCTACCTG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1980C>A	6.37:g.39855288C>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	95	93	0.978947	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	CCDS56426.1																																																																																			C|0.882;A|0.118	0.118	strong		0.537	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39855288	C	A	39855288	2	1	23	1	0	0	0	0	0	0	0	1	4216	903	32	4		4	DAAM2	6	39855288	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3470	39855288	131259779	1619	18075										
APOBEC2	10930	hgsc.bcm.edu	37	chr6	41029109	41029109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaaattccagttccggaaTgtggagtacagttccgggag	12	7	0	0	rs2073014	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:41029109T>C	ENST00000244669.2	+	2	218	c.174T>C	c.(172-174)aaT>aaC	p.N58N		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	58					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTTCCGGAATGTGGAGTACA	0.502													T|||	923	0.184305	0.0333	0.2305	5008	,	,		16964	0.2669		0.168	False		,,,				2504	0.2873				p.N58N	Ovarian(118;1320 2185 8096 29684)	Atlas-SNP	.											.	APOBEC2	30	.	0			c.T174C						PASS	.	T		312,4094	167.3+/-198.3	13,286,1904	78	77	77		174	-2.4	1	6	dbSNP_96	77	1748,6852	316.8+/-312.9	181,1386,2733	no	coding-synonymous	APOBEC2	NM_006789.3		194,1672,4637	CC,CT,TT		20.3256,7.0813,15.8388		58/225	41029109	2060,10946	2203	4300	6503	SO:0001819	synonymous_variant	10930	exon2			CCGGAATGTGGAG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.174T>C	6.37:g.41029109T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	110	46	0.418182	NM_006789	B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	CCDS4848.1																																																																																			T|0.840;C|0.160	0.160	strong		0.502	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		C	41029109	T	C	41029109	2	2	23	1	0	0	0	0	0	0	0	1	788	1461	51	2		2	APOBEC2	6	41029109	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1173821	41029109	130085958	1620	18076										
APOBEC2	10930	hgsc.bcm.edu	37	chr6	41029342	41029342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgtgtgctgaccgcattaTcaaaacccttagcaagacca	8	12	1	2	rs2076472	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:41029342T>C	ENST00000244669.2	+	2	451	c.407T>C	c.(406-408)aTc>aCc	p.I136T		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	136			I -> T (in dbSNP:rs2076472). {ECO:0000269|Ref.3}.		cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GACCGCATTATCAAAACCCTT	0.562													T|||	888	0.177316	0.0068	0.2277	5008	,	,		20026	0.2679		0.168	False		,,,				2504	0.2883				p.I136T	Ovarian(118;1320 2185 8096 29684)	Atlas-SNP	.											.	APOBEC2	30	.	0			c.T407C						PASS	.	T	THR/ILE	178,4228	116.3+/-154.2	6,166,2031	157	149	152		407	1.4	0.5	6	dbSNP_96	152	1747,6853	318.4+/-313.7	181,1385,2734	yes	missense	APOBEC2	NM_006789.3	89	187,1551,4765	CC,CT,TT		20.314,4.0399,14.8009	benign	136/225	41029342	1925,11081	2203	4300	6503	SO:0001583	missense	10930	exon2			GCATTATCAAAAC	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.407T>C	6.37:g.41029342T>C	ENSP00000244669:p.Ile136Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	158	80	0.506329	NM_006789	B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	CCDS4848.1	364|364	0.16666666666666666|0.16666666666666666	4|4	0.008130081300813009|0.008130081300813009	81|81	0.22375690607734808|0.22375690607734808	150|150	0.26223776223776224|0.26223776223776224	129|129	0.17018469656992086|0.17018469656992086	T|T	9.339|9.339	1.062585|1.062585	0.19987|0.19987	0.040399|0.040399	0.20314|0.20314	ENSG00000124701|ENSG00000124701	ENST00000244669|ENST00000426505	T|.	0.49139|.	0.79|.	5.54|5.54	1.37|1.37	0.22104|0.22104	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);|.	0.646541|.	0.16452|.	N|.	0.213828|.	T|T	0.10294|0.10294	0.0252|0.0252	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.11641|0.11641	-1.0579|-1.0579	9|5	0.54805|0.59425	T|D	0.06|0.04	.|.	5.8748|5.8748	0.18822|0.18822	0.0:0.2351:0.1508:0.614|0.0:0.2351:0.1508:0.614	rs2076472;rs56663139;rs2076472|rs2076472;rs56663139;rs2076472	136|.	Q9Y235|.	ABEC2_HUMAN|.	T|P	136|101	ENSP00000244669:I136T|.	ENSP00000244669:I136T|ENSP00000395214:S101P	I|S	+|+	2|1	0|0	APOBEC2|APOBEC2	41137320|41137320	0.000000|0.000000	0.05858|0.05858	0.530000|0.530000	0.27963|0.27963	0.788000|0.788000	0.44548|0.44548	0.274000|0.274000	0.18680|0.18680	0.320000|0.320000	0.23234|0.23234	-1.125000|-1.125000	0.01998|0.01998	ATC|TCA	T|0.816;C|0.184	0.184	strong		0.562	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		C	41029342	T	C	41029342	3	2	23	1	0	0	0	0	1	0	0	0	788	1435	50	2	413	2	APOBEC2	6	41029342	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	233	41029342	130085725	1621	18077										
TREML4	285852	hgsc.bcm.edu	37	chr6	41196169	41196169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacagatctgggctggaatgGcctggggtggggtccacacc	16	10	1	1	rs112680060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:41196169G>T	ENST00000341495.2	+	1	108	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	TREML4_ENST00000448827.2_Missense_Mutation_p.A2S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	2						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGCTGGAATGGCCTGGGGTGG	0.607													G|||	141	0.028155	0.0	0.0159	5008	,	,		17102	0.006		0.0129	False		,,,				2504	0.1135				p.A2S		Atlas-SNP	.											.	TREML4	25	.	0			c.G4T						PASS	.	G	SER/ALA	7,4399		0,7,2196	37	37	37		4	2	0.3	6	dbSNP_132	37	57,8543		0,57,4243	yes	missense	TREML4	NM_198153.2	99	0,64,6439	TT,TG,GG		0.6628,0.1589,0.4921	possibly-damaging	2/201	41196169	64,12942	2203	4300	6503	SO:0001583	missense	285852	exon1			GGAATGGCCTGGG	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.4G>T	6.37:g.41196169G>T	ENSP00000342570:p.Ala2Ser	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	85	46	0.541176	NM_198153	B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	CCDS34446.1	16	0.007326007326007326	0	0.0	6	0.016574585635359115	0	0.0	10	0.013192612137203167	.	12.79	2.044341	0.36085	0.001589	0.006628	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.09445	2.98;2.98	3.94	2.05	0.26809	.	.	.	.	.	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.63381	0.914	T	0.22800	-1.0206	9	0.72032	D	0.01	-18.3792	4.7235	0.12929	0.1155:0.0:0.6718:0.2127	.	2	Q6UXN2	TRML4_HUMAN	S	2	ENSP00000342570:A2S;ENSP00000418078:A2S	ENSP00000342570:A2S	A	+	1	0	TREML4	41304147	0.595000	0.26857	0.269000	0.24586	0.017000	0.09413	0.825000	0.27393	0.395000	0.25257	0.591000	0.81541	GCC	G|0.995;T|0.005	0.005	strong		0.607	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			T	41196169	G	T	41196169	3	4	23	1	0	0	0	0	1	0	0	0	16471	1203	42	4	6	4	TREML4	6	41196169	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	166827	41196169	129918898	1622	18078										
TRERF1	55809	hgsc.bcm.edu	37	chr6	42233518	42233518	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggaccctggctgggctctCccatcaggtaggtgcatcta	14	12	3	0	rs17704222	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:42233518C>T	ENST00000372922.4	-	6	2017	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	TRERF1_ENST00000541110.1_Silent_p.G485G|TRERF1_ENST00000372917.4_Silent_p.G485G|TRERF1_ENST00000340840.2_Silent_p.G485G|TRERF1_ENST00000354325.2_Silent_p.G485G	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	485	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGGGCTCTCCCATCAGGTA	0.493													C|||	178	0.0355431	0.0045	0.0375	5008	,	,		19050	0.004		0.0726	False		,,,				2504	0.0706				p.G485G		Atlas-SNP	.											.	TRERF1	124	.	0			c.G1455A						PASS	.	C		79,4327	67.6+/-105.2	1,77,2125	57	55	56		1455	3.8	1	6	dbSNP_123	56	764,7836	180.8+/-229.6	32,700,3568	no	coding-synonymous	TRERF1	NM_033502.2		33,777,5693	TT,TC,CC		8.8837,1.793,6.4816		485/1201	42233518	843,12163	2203	4300	6503	SO:0001819	synonymous_variant	55809	exon6			GGCTCTCCCATCA	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1455G>A	6.37:g.42233518C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	110	46	0.418182	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																			C|0.950;T|0.050	0.050	strong		0.493	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42233518	C	T	42233518	2	4	23	1	0	0	0	0	0	0	0	1	16472	842	30	2		2	TRERF1	6	42233518	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1037349	42233518	128881549	1623	18079										
UBR2	23304	hgsc.bcm.edu	37	chr6	42571346	42571346	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcctcttgttcatttatcAgaagatgtgatagcaagaac	8	7	3	4	rs16895863	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:42571346A>T	ENST00000372899.1	+	5	810	c.552A>T	c.(550-552)tcA>tcT	p.S184S	UBR2_ENST00000372903.2_Silent_p.S184S|UBR2_ENST00000372901.1_Silent_p.S184S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	184					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCATTTATCAGAAGATGTGA	0.328													A|||	1006	0.200879	0.2352	0.183	5008	,	,		18936	0.0893		0.2366	False		,,,				2504	0.2454				p.S184S		Atlas-SNP	.											.	UBR2	134	.	0			c.A552T						PASS	.	A	,	1026,3380	375.4+/-321.6	116,794,1293	66	64	65		552,552	3.1	1	6	dbSNP_123	65	1828,6762	326.6+/-317.4	204,1420,2671	no	coding-synonymous,coding-synonymous	UBR2	NM_001184801.1,NM_015255.2	,	320,2214,3964	TT,TA,AA		21.2806,23.2864,21.9606	,	184/440,184/1756	42571346	2854,10142	2203	4295	6498	SO:0001819	synonymous_variant	23304	exon5			TTTATCAGAAGAT	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.552A>T	6.37:g.42571346A>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	48	48	1	NM_001184801	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																			A|0.793;T|0.207	0.207	strong		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42571346	A	T	42571346	2	4	23	1	0	0	0	0	0	0	0	1	16899	175	7	5		5	UBR2	6	42571346	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	337828	42571346	128543721	1624	18080										
KLC4	89953	hgsc.bcm.edu	37	chr6	43039340	43039340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggatgcatgcagaggagCgggaggaaatgagcaaagtg	17	5	1	2	rs41274918	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:43039340C>T	ENST00000394056.2	+	11	1786	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	KLC4_ENST00000453940.2_Missense_Mutation_p.R354W|KLC4_ENST00000347162.5_Missense_Mutation_p.R431W|KLC4_ENST00000479388.1_Missense_Mutation_p.R431W|KLC4_ENST00000259708.3_Missense_Mutation_p.R449W|KLC4_ENST00000394058.1_Missense_Mutation_p.R431W|RP11-387M24.5_ENST00000606123.1_RNA			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	431						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.R431W(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGCAGAGGAGCGGGAGGAAAT	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		17649	0.0		0.002	False		,,,				2504	0.001				p.R449W		Atlas-SNP	.											KLC4,colon,carcinoma,0,1	KLC4	89	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1345T						scavenged	.	C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59	61	60		1291,1291,1345	5.8	1	6	dbSNP_127	60	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KLC4	NM_201521.1,NM_201522.1,NM_201523.1	101,101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	431/620,431/620,449/638	43039340	2,13004	2203	4300	6503	SO:0001583	missense	89953	exon10			GAGGAGCGGGAGG	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1291C>T	6.37:g.43039340C>T	ENSP00000377620:p.Arg431Trp	Somatic	280	2	0.00714286		WXS	Illumina HiSeq	Phase_I	251	134	0.533865	NM_201523	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.58	3.423957	0.62733	2.27E-4	1.16E-4	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.80824	-1.4;-1.38;-1.42;-1.4;-1.4;-1.4	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000022	D	0.88381	0.6421	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.937;0.999;0.998	D	0.87053	0.2148	10	0.36615	T	0.2	-22.2004	14.7934	0.69860	0.1783:0.8217:0.0:0.0	rs41274918	354;449;431	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	W	431;354;449;431;431;431	ENSP00000340221:R431W;ENSP00000395806:R354W;ENSP00000259708:R449W;ENSP00000418031:R431W;ENSP00000377620:R431W;ENSP00000377622:R431W	ENSP00000259708:R449W	R	+	1	2	KLC4	43147318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.659000	0.37387	2.765000	0.95021	0.555000	0.69702	CGG	C|0.999;T|0.001	0.001	strong		0.587	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		T	43039340	C	T	43039340	3	4	23	1	0	0	0	0	1	0	0	0	8336	759	27	1	1452	1	KLC4	6	43039340	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	467994	43039340	128075727	1625	18081										
CUL9	23113	hgsc.bcm.edu	37	chr6	43182906	43182906	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgtaccagtacagatgtCctctcttgcatcctgcacct	7	15	1	1	rs76552409	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:43182906C>T	ENST00000252050.4	+	30	5862	c.5778C>T	c.(5776-5778)gtC>gtT	p.V1926V	CUL9_ENST00000372647.2_Silent_p.V1898V|CUL9_ENST00000354495.3_Silent_p.V1816V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1926					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTACAGATGTCCTCTCTTGCA	0.612													C|||	43	0.00858626	0.0015	0.013	5008	,	,		18847	0.0		0.0278	False		,,,				2504	0.0041				p.V1926V		Atlas-SNP	.											.	CUL9	248	.	0			c.C5778T						PASS	.	C		31,4375	36.8+/-68.6	0,31,2172	107	105	106		5778	3.5	1	6	dbSNP_132	106	256,8344	100.1+/-161.6	3,250,4047	no	coding-synonymous	CUL9	NM_015089.2		3,281,6219	TT,TC,CC		2.9767,0.7036,2.2067		1926/2518	43182906	287,12719	2203	4300	6503	SO:0001819	synonymous_variant	23113	exon30			AGATGTCCTCTCT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5778C>T	6.37:g.43182906C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	113	110	0.973451	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																			C|0.981;T|0.019	0.019	strong		0.612	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43182906	C	T	43182906	2	4	23	1	0	0	0	0	0	0	0	1	4061	842	30	2		2	CUL9	6	43182906	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	143566	43182906	127932161	1626	18082										
XPO5	57510	hgsc.bcm.edu	37	chr6	43496662	43496662	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagaggctttacaaagacAcgtgctgcaacaagttaaga	9	9	0	3	rs1106841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:43496662A>C	ENST00000265351.7	-	24	2889	c.2679T>G	c.(2677-2679)cgT>cgG	p.R893R	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	893					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)			TTACAAAGACACGTGCTGCAA	0.502													C|||	1956	0.390575	0.6354	0.4222	5008	,	,		17759	0.0565		0.3917	False		,,,				2504	0.3804				p.R893R		Atlas-SNP	.											XPO5,colon,carcinoma,0,2	XPO5	79	2	0			c.T2679G						scavenged	.	C		2283,1575		693,897,339	41	44	43		2679	1.9	1	6	dbSNP_86	43	3187,5077		606,1975,1551	yes	coding-synonymous-near-splice	XPO5	NM_020750.2		1299,2872,1890	CC,CA,AA		38.5649,40.8243,45.1246		893/1205	43496662	5470,6652	1929	4132	6061	SO:0001630	splice_region_variant	57510	exon24			AAAGACACGTGCT	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.2678-1T>G	6.37:g.43496662A>C		Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																			A|0.635;C|0.365	0.365	strong		0.502	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	Silent	C	43496662	A	C	43496662	5	2	23	1	0	0	0	0	0	0	1	0	17444	173	6	5	971	5	XPO5	6	43496662	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	313756	43496662	127618405	1627	18083										
MAD2L1BP	9587	hgsc.bcm.edu	37	chr6	43608220	43608220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgaaccacggcttgggaaGactacatttggttccaggca	11	11	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:43608220G>A	ENST00000372171.4	+	3	832	c.775G>A	c.(775-777)Gac>Aac	p.D259N	MAD2L1BP_ENST00000451025.2_Missense_Mutation_p.D291N	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	259					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGCTTGGGAAGACTACATTTG	0.493																																					p.D291N		Atlas-SNP	.											.	MAD2L1BP	12	.	0			c.G871A						PASS	.						51	48	49					6																	43608220		2203	4300	6503	SO:0001583	missense	9587	exon4			TGGGAAGACTACA	BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.775G>A	6.37:g.43608220G>A	ENSP00000361244:p.Asp259Asn	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	101	30	0.29703	NM_001003690	B4DLV3|E9PAT7|Q6IBB1	Missense_Mutation	SNP	ENST00000372171.4	37	CCDS4904.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831484	0.91036	.	.	ENSG00000124688	ENST00000451025;ENST00000372171	T	0.57752	0.38	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62511	-0.6839	10	0.72032	D	0.01	-18.5445	16.7112	0.85386	0.0:0.0:1.0:0.0	.	259;291	Q15013;E9PAT7	MD2BP_HUMAN;.	N	291;259	ENSP00000410818:D291N	ENSP00000361244:D259N	D	+	1	0	MAD2L1BP	43716198	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	6.281000	0.72632	2.365000	0.80145	0.555000	0.69702	GAC	.	.	none		0.493	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2	NM_014628		A	43608220	G	A	43608220	3	1	23	1	0	0	0	0	1	0	0	0	9149	942	33	2	935	2	MAD2L1BP	6	43608220	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	111558	43608220	127506847	1628	18084										
C6orf223	221416	hgsc.bcm.edu	37	chr6	43968412	43968412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaggaggcccttcagcaaCggagtgggcctgcattctgc	15	11	2	0	rs35703624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:43968412C>T	ENST00000336600.5	+	1	76	c.56C>T	c.(55-57)aCg>aTg	p.T19M	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_5'UTR|C6orf223_ENST00000439969.2_Missense_Mutation_p.T19M	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	19										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CCTTCAGCAACGGAGTGGGCC	0.612													C|||	22	0.00439297	0.0023	0.0058	5008	,	,		16264	0.0		0.0149	False		,,,				2504	0.0				p.T19M		Atlas-SNP	.											.	C6orf223	14	.	0			c.C56T						PASS	.	C	MET/THR,MET/THR	12,4392	17.9+/-39.9	0,12,2190	42	40	41		56,56	-6.9	0	6	dbSNP_126	41	106,8494	55.6+/-116.7	1,104,4195	yes	missense,missense	C6orf223	NM_153246.4,NM_001171992.1	81,81	1,116,6385	TT,TC,CC		1.2326,0.2725,0.9074	benign,benign	19/243,19/106	43968412	118,12886	2202	4300	6502	SO:0001583	missense	221416	exon1			CAGCAACGGAGTG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.56C>T	6.37:g.43968412C>T	ENSP00000426159:p.Thr19Met	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	155	64	0.412903	NM_153246	E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	37	CCDS34459.1	12	0.005494505494505495	0	0.0	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	C	9.922	1.212319	0.22289	0.002725	0.012326	ENSG00000181577	ENST00000336600;ENST00000439969	T	0.38077	1.16	4.21	-6.91	0.01649	.	3.185210	0.01694	N	0.026816	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31364	-0.9946	10	0.87932	D	0	.	7.3902	0.26905	0.1084:0.3451:0.0:0.5465	rs35703624	19	Q8N319	CF223_HUMAN	M	19	ENSP00000426159:T19M	ENSP00000426159:T19M	T	+	2	0	C6orf223	44076390	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-2.120000	0.01323	-1.415000	0.02022	-1.644000	0.00765	ACG	C|0.993;T|0.007	0.007	strong		0.612	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		T	43968412	C	T	43968412	3	4	23	1	0	0	0	0	1	0	0	0	2357	536	19	1	58	1	C6orf223	6	43968412	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	360192	43968412	127146655	1629	18085										
SUPT3H	8464	hgsc.bcm.edu	37	chr6	44982593	44982593	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctttgatttgtagtctcgGataaacatgtattttagcag	8	5	2	1	rs12528232	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:44982593G>A	ENST00000371459.1	-	5	474	c.309C>T	c.(307-309)atC>atT	p.I103I	SUPT3H_ENST00000371461.2_Silent_p.I114I|SUPT3H_ENST00000371460.1_Silent_p.I114I|SUPT3H_ENST00000306867.5_Silent_p.I103I	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	185					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGTAGTCTCGGATAAACATGT	0.284													G|||	714	0.142572	0.0242	0.255	5008	,	,		15397	0.252		0.1282	False		,,,				2504	0.1247				p.I114I		Atlas-SNP	.											.	SUPT3H	75	.	0			c.C342T						PASS	.	G	,	198,4206	119.2+/-156.9	7,184,2011	131	109	117		309,342	3.1	1	6	dbSNP_120	117	1130,7468	227.2+/-262.7	74,982,3243	no	coding-synonymous,coding-synonymous	SUPT3H	NM_003599.2,NM_181356.1	,	81,1166,5254	AA,AG,GG		13.1426,4.4959,10.2138	,	103/318,114/329	44982593	1328,11674	2202	4299	6501	SO:0001819	synonymous_variant	8464	exon7			GTCTCGGATAAAC	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.309C>T	6.37:g.44982593G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	147	62	0.421769	NM_181356	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	ENST00000371459.1	37	CCDS34465.1																																																																																			G|0.873;A|0.127	0.127	strong		0.284	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		A	44982593	G	A	44982593	2	1	23	1	0	0	0	0	0	0	0	1	15394	1164	41	2		2	SUPT3H	6	44982593	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1014181	44982593	126132474	1630	18086										
PLA2G7	7941	hgsc.bcm.edu	37	chr6	46672943	46672943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgctaagatcaatagctAcatttgaatctatgtctccc	6	9	3	2	rs1051931	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:46672943A>G	ENST00000274793.7	-	11	1332	c.1136T>C	c.(1135-1137)gTa>gCa	p.V379A	PLA2G7_ENST00000537365.1_Missense_Mutation_p.V379A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	379			V -> A (common polymorphism; dbSNP:rs1051931). {ECO:0000269|PubMed:10733466, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATCAATAGCTACATTTGAATC	0.353													A|||	4058	0.810304	0.7239	0.8458	5008	,	,		18249	0.9087		0.7565	False		,,,				2504	0.8558				p.V379A		Atlas-SNP	.											.	PLA2G7	49	.	0			c.T1136C	GRCh37	CM001309	PLA2G7	M	rs1051931	PASS	.	A	ALA/VAL,ALA/VAL	3294,1112	717.3+/-408.7	1238,818,147	100	90	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1136,1136	5.9	0.8	6	dbSNP_86	94	6914,1686	737.8+/-407.0	2783,1348,169	yes	missense,missense	PLA2G7	NM_001168357.1,NM_005084.3	64,64	4021,2166,316	GG,GA,AA		19.6047,25.2383,21.5131	probably-damaging,probably-damaging	379/442,379/442	46672943	10208,2798	2203	4300	6503	SO:0001583	missense	7941	exon11			ATAGCTACATTTG	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1136T>C	6.37:g.46672943A>G	ENSP00000274793:p.Val379Ala	Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_005084	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	1731	0.7925824175824175	335	0.6808943089430894	307	0.8480662983425414	515	0.9003496503496503	574	0.7572559366754618	A	15.75	2.924347	0.52653	0.747617	0.803953	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.53206	0.63;0.63	5.87	5.87	0.94306	.	0.391798	0.25660	N	0.029152	T	0.43122	0.1233	M	0.65975	2.015	0.09310	P	0.999999999535277	D	0.61697	0.99	P	0.57152	0.814	T	0.47812	-0.9088	9	0.09338	T	0.73	.	11.8741	0.52537	0.8693:0.0:0.0:0.1307	rs1051931;rs3192320;rs17853835;rs52828849;rs57815470;rs1051931	379	Q13093	PAFA_HUMAN	A	379	ENSP00000274793:V379A;ENSP00000445666:V379A	ENSP00000274793:V379A	V	-	2	0	PLA2G7	46780902	0.980000	0.34600	0.775000	0.31657	0.901000	0.52897	6.861000	0.75478	2.247000	0.74100	0.482000	0.46254	GTA	A|0.223;G|0.777	0.777	strong		0.353	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			G	46672943	A	G	46672943	3	3	23	1	0	0	0	0	1	0	0	0	12009	391	14	2	197	2	PLA2G7	6	46672943	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1690350	46672943	124442124	1631	18087										
C6orf138	442213	hgsc.bcm.edu	37	chr6	47847179	47847179	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaatgagatagaggatgacAacaaatggcttcacatatat	8	5	1	3	rs3799276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:47847179A>G	ENST00000339488.4	-	3	1434	c.1401T>C	c.(1399-1401)gtT>gtC	p.V467V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	467						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGAGGATGACAACAAATGGCT	0.443													G|||	3734	0.745607	0.6445	0.8516	5008	,	,		21602	0.8016		0.7475	False		,,,				2504	0.7474				p.V467V		Atlas-SNP	.											.	.	.	.	0			c.T1401C						PASS	.	G		2937,1469	473.1+/-356.6	988,961,254	110	100	104		1401	-11.3	0.1	6	dbSNP_107	104	6405,2195	373.7+/-337.1	2398,1609,293	no	coding-synonymous	C6orf138	NM_001013732.3		3386,2570,547	GG,GA,AA		25.5233,33.3409,28.1716		467/847	47847179	9342,3664	2203	4300	6503	SO:0001819	synonymous_variant	442213	exon3			GATGACAACAAAT		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1401T>C	6.37:g.47847179A>G		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_001013732	B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	CCDS34473.2																																																																																			A|0.279;G|0.721	0.721	strong		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		G	47847179	A	G	47847179	2	3	23	1	0	0	0	0	0	0	0	1	2332	117	5	2		2	C6orf138	6	47847179	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1174236	47847179	123267888	1632	18088										
MUT	4594	hgsc.bcm.edu	37	chr6	49425446	49425446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcaataattttcatggaTggttctggaggaaaaatgta	10	4	3	0	rs138085432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:49425446T>C	ENST00000274813.3	-	3	838	c.711A>G	c.(709-711)ccA>ccG	p.P237P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	237					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCATGGATGGTTCTGGAG	0.313													T|||	53	0.0105831	0.0023	0.0101	5008	,	,		17146	0.0		0.0129	False		,,,				2504	0.0307				p.P237P		Atlas-SNP	.											.	MUT	70	.	0			c.A711G						PASS	.	T		23,4379	28.1+/-56.4	0,23,2178	57	51	53		711	0.7	1	6	dbSNP_134	53	115,8475	58.3+/-119.8	1,113,4181	no	coding-synonymous	MUT	NM_000255.3		1,136,6359	CC,CT,TT		1.3388,0.5225,1.0622		237/751	49425446	138,12854	2201	4295	6496	SO:0001819	synonymous_variant	4594	exon3			CATGGATGGTTCT		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.711A>G	6.37:g.49425446T>C		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	117	46	0.393162	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	CCDS4924.1																																																																																			T|0.991;C|0.009	0.009	strong		0.313	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			C	49425446	T	C	49425446	2	2	23	1	0	0	0	0	0	0	0	1	9991	1451	51	2		2	MUT	6	49425446	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1578267	49425446	121689621	1633	18089										
CENPQ	55166	hgsc.bcm.edu	37	chr6	49459978	49459978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagcctataagaaactggAtgcatcttaaagagtgtttt	9	5	1	3	rs2501968	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:49459978A>G	ENST00000335783.3	+	9	891	c.797A>G	c.(796-798)gAt>gGt	p.D266G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	266			D -> G (in dbSNP:rs2501968).		CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAGAAACTGGATGCATCTTAA	0.318													A|||	2399	0.479034	0.4085	0.67	5008	,	,		16849	0.5794		0.4334	False		,,,				2504	0.3824				p.D266G		Atlas-SNP	.											CENPQ,colon,carcinoma,0,2	CENPQ	23	2	0			c.A797G						PASS	.	A	GLY/ASP	1823,2583	529.5+/-372.7	366,1091,746	78	77	78		797	4.2	0.4	6	dbSNP_100	78	3511,5089	508.5+/-377.1	718,2075,1507	yes	missense	CENPQ	NM_018132.3	94	1084,3166,2253	GG,GA,AA		40.8256,41.3754,41.0118	benign	266/269	49459978	5334,7672	2203	4300	6503	SO:0001583	missense	55166	exon9			AACTGGATGCATC	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.797A>G	6.37:g.49459978A>G	ENSP00000337289:p.Asp266Gly	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	52	51	0.980769	NM_018132	A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	1090	0.4990842490842491	201	0.40853658536585363	225	0.6215469613259669	361	0.6311188811188811	303	0.3997361477572559	A	11.95	1.790577	0.31685	0.413754	0.408256	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.55413	0.52	5.4	4.24	0.50183	.	0.288766	0.37304	N	0.002153	T	0.33876	0.0878	M	0.67953	2.075	0.39877	P	0.02641199999999999	B	0.20671	0.047	B	0.27796	0.083	T	0.35176	-0.9799	9	0.66056	D	0.02	-10.7583	8.0688	0.30676	0.9099:0.0:0.0901:0.0	rs2501968;rs3209643;rs3823209;rs52825404;rs57701029;rs2501968	266	Q7L2Z9	CENPQ_HUMAN	G	266	ENSP00000337289:D266G	ENSP00000337289:D266G	D	+	2	0	CENPQ	49567937	0.998000	0.40836	0.363000	0.25875	0.417000	0.31264	2.228000	0.42981	1.067000	0.40740	0.524000	0.50904	GAT	A|0.545;C|0.003	.	strong		0.318	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		G	49459978	A	G	49459978	3	3	23	1	0	0	0	0	1	0	0	0	3241	333	12	2	827	2	CENPQ	6	49459978	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	34532	49459978	121655089	1634	18090										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49698883	49698883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttcaaacttactgcatagTccatcgtcacagttatctgg	6	11	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:49698883T>C	ENST00000393666.1	-	6	609	c.603A>G	c.(601-603)ggA>ggG	p.G201G	CRISP3_ENST00000433368.2_Silent_p.G224G|CRISP3_ENST00000371159.4_Silent_p.G232G|CRISP3_ENST00000423399.2_Silent_p.G111G|CRISP3_ENST00000263045.4_Silent_p.G214G			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	201					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TACTGCATAGTCCATCGTCAC	0.343																																					p.G224G		Atlas-SNP	.											CRISP3,colon,carcinoma,0,1	CRISP3	67	1	0			c.A672G						scavenged	.						99	91	94					6																	49698883		2203	4300	6503	SO:0001819	synonymous_variant	10321	exon7			GCATAGTCCATCG	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.603A>G	6.37:g.49698883T>C		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	229	3	0.0131004	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37																																																																																				.	.	none		0.343	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		C	49698883	T	C	49698883	2	2	23	1	0	0	0	0	0	0	0	1	3881	1654	58	2		2	CRISP3	6	49698883	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	238905	49698883	121416184	1635	18091										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49701439	49701439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtataatgtccaaccactgCgttgggagtctttggcccta	10	10	1	0	rs1864312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:49701439C>A	ENST00000393666.1	-	4	406	c.400G>T	c.(400-402)Gca>Tca	p.A134S	CRISP3_ENST00000433368.2_Missense_Mutation_p.A157S|CRISP3_ENST00000371159.4_Missense_Mutation_p.A165S|CRISP3_ENST00000423399.2_Missense_Mutation_p.A44S|CRISP3_ENST00000263045.4_Missense_Mutation_p.A147S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	134	SCP.		A -> S (in dbSNP:rs1864312). {ECO:0000269|PubMed:14702039}.		defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCAACCACTGCGTTGGGAGTC	0.403													C|||	1831	0.365615	0.2579	0.5821	5008	,	,		18832	0.3105		0.4682	False		,,,				2504	0.3088				p.A157S		Atlas-SNP	.											.	CRISP3	67	.	0			c.G469T						PASS	.	C	SER/ALA,SER/ALA	1322,3084	443.9+/-347.2	198,926,1079	121	114	117		469,439	3.2	0	6	dbSNP_92	117	3754,4846	534.0+/-382.5	806,2142,1352	yes	missense,missense	CRISP3	NM_001190986.1,NM_006061.2	99,99	1004,3068,2431	AA,AC,CC		43.6512,30.0045,39.0281	benign,benign	157/269,147/259	49701439	5076,7930	2203	4300	6503	SO:0001583	missense	10321	exon5			CCACTGCGTTGGG	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.400G>T	6.37:g.49701439C>A	ENSP00000377274:p.Ala134Ser	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		877	0.4015567765567766	130	0.26422764227642276	207	0.5718232044198895	184	0.32167832167832167	356	0.46965699208443273	C	7.197	0.592611	0.13875	0.300045	0.436512	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.1	3.18	0.36537	CAP domain (3);	1.214940	0.06207	U	0.684266	T	0.01189	0.0039	N	0.04387	-0.21	0.80722	P	0.0	B	0.27380	0.177	B	0.31751	0.135	T	0.39860	-0.9593	9	0.07813	T	0.8	.	7.8096	0.29223	0.0:0.7193:0.1797:0.1009	rs1864312;rs13192472;rs52804712;rs59808203;rs1864312	134	P54108	CRIS3_HUMAN	S	147;157;134;44;165;157	ENSP00000263045:A147S;ENSP00000389026:A157S;ENSP00000377274:A134S;ENSP00000410469:A44S;ENSP00000360201:A165S;ENSP00000346636:A157S	ENSP00000263045:A147S	A	-	1	0	CRISP3	49809398	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.738000	0.26158	1.146000	0.42352	0.585000	0.79938	GCA	C|0.618;A|0.382	0.382	strong		0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		A	49701439	C	A	49701439	3	1	23	1	0	0	0	0	1	0	0	0	3881	768	27	4	353	4	CRISP3	6	49701439	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2556	49701439	121413628	1636	18092										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49701523	49701523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttgtgaccatgagctggAggcacttgacatgtagagat	13	7	0	4	rs495335	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:49701523A>G	ENST00000393666.1	-	4	322	c.316T>C	c.(316-318)Tcc>Ccc	p.S106P	CRISP3_ENST00000433368.2_Missense_Mutation_p.S129P|CRISP3_ENST00000371159.4_Missense_Mutation_p.S137P|CRISP3_ENST00000423399.2_Missense_Mutation_p.S16P|CRISP3_ENST00000263045.4_Missense_Mutation_p.S119P			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	106	SCP.		S -> P (in dbSNP:rs495335). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATGAGCTGGAGGCACTTGAC	0.433													G|||	3381	0.67512	0.7383	0.7594	5008	,	,		18918	0.5476		0.6948	False		,,,				2504	0.6411				p.S129P		Atlas-SNP	.											.	CRISP3	67	.	0			c.T385C						PASS	.	G	PRO/SER,PRO/SER	3280,1126	401.5+/-332.0	1205,870,128	149	139	142		385,355	5.1	0	6	dbSNP_83	142	5784,2816	445.5+/-361.0	1947,1890,463	yes	missense,missense	CRISP3	NM_001190986.1,NM_006061.2	74,74	3152,2760,591	GG,GA,AA		32.7442,25.5561,30.3091	benign,benign	129/269,119/259	49701523	9064,3942	2203	4300	6503	SO:0001583	missense	10321	exon5			AGCTGGAGGCACT	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.316T>C	6.37:g.49701523A>G	ENSP00000377274:p.Ser106Pro	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	133	131	0.984962	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		1478	0.6767399267399268	372	0.7560975609756098	273	0.7541436464088398	310	0.541958041958042	523	0.6899736147757256	G	1.963	-0.438361	0.04636	0.744439	0.672558	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.44881	3.06;3.06;3.06;0.91;3.06;3.06	5.1	5.1	0.69264	CAP domain (3);	0.182430	0.34291	N	0.004100	T	0.03305	0.0096	N	0.00500	-1.43	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.02654	T	1	.	9.8183	0.40867	0.0963:0.0:0.9037:0.0	rs495335;rs1771237;rs13192493;rs16879714;rs52821725;rs495335	106	P54108	CRIS3_HUMAN	P	119;129;106;16;137;129	ENSP00000263045:S119P;ENSP00000389026:S129P;ENSP00000377274:S106P;ENSP00000410469:S16P;ENSP00000360201:S137P;ENSP00000346636:S129P	ENSP00000263045:S119P	S	-	1	0	CRISP3	49809482	0.021000	0.18746	0.003000	0.11579	0.001000	0.01503	1.944000	0.40263	1.156000	0.42514	-0.197000	0.12766	TCC	A|0.322;G|0.678	0.678	strong		0.433	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		G	49701523	A	G	49701523	3	3	23	1	0	0	0	0	1	0	0	0	3881	304	11	3	437	3	CRISP3	6	49701523	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	84	49701523	121413544	1637	18093										
TFAP2D	83741	hgsc.bcm.edu	37	chr6	50683009	50683009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccgctccaccaccagtccTtccattacgagtttcagcac	5	19	1	0	rs78648104	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:50683009T>C	ENST00000008391.3	+	2	448	c.220T>C	c.(220-222)Ttc>Ctc	p.F74L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCAGTCCTTCCATTACGA	0.577													T|||	398	0.0794728	0.0045	0.0274	5008	,	,		16330	0.1815		0.1173	False		,,,				2504	0.0736				p.F74L		Atlas-SNP	.											.	TFAP2D	144	.	0			c.T220C						PASS	.	T	LEU/PHE	82,4324	71.4+/-109.4	0,82,2121	236	191	206		220	5.1	1	6	dbSNP_131	206	752,7848	180.8+/-229.6	28,696,3576	yes	missense	TFAP2D	NM_172238.3	22	28,778,5697	CC,CT,TT		8.7442,1.8611,6.4124	benign	74/453	50683009	834,12172	2203	4300	6503	SO:0001583	missense	83741	exon2			CAGTCCTTCCATT	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.220T>C	6.37:g.50683009T>C	ENSP00000008391:p.Phe74Leu	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	212	111	0.523585	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	203	0.09294871794871795	0	0.0	7	0.019337016574585635	108	0.1888111888111888	88	0.11609498680738786	T	11.80	1.745353	0.30955	0.018611	0.087442	ENSG00000008197	ENST00000008391	D	0.96940	-4.18	5.07	5.07	0.68467	.	0.307122	0.36854	N	0.002363	D	0.92708	0.7682	N	0.08118	0	0.09310	P	0.99999999396351	P	0.43392	0.805	P	0.57776	0.827	D	0.93611	0.6939	9	0.33141	T	0.24	-19.6224	15.1241	0.72469	0.0:0.0:0.0:1.0	.	74	Q7Z6R9	AP2D_HUMAN	L	74	ENSP00000008391:F74L	ENSP00000008391:F74L	F	+	1	0	TFAP2D	50790968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.816000	0.86201	2.022000	0.59522	0.533000	0.62120	TTC	T|0.925;C|0.075	0.075	strong		0.577	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		C	50683009	T	C	50683009	3	2	23	1	0	0	0	0	1	0	0	0	15787	1609	56	3	226	3	TFAP2D	6	50683009	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	981486	50683009	120432058	1638	18094										
PKHD1	5314	hgsc.bcm.edu	37	chr6	51917968	51917968	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatctgatgaaccagcacTggggagtttgccggaggggg	17	7	1	3	rs4715271	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:51917968T>G	ENST00000371117.3	-	21	2321	c.2046A>C	c.(2044-2046)ccA>ccC	p.P682P	PKHD1_ENST00000340994.4_Silent_p.P682P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	682					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAACCAGCACTGGGGAGTTTG	0.527													T|||	294	0.0587061	0.0242	0.0749	5008	,	,		19890	0.0407		0.1113	False		,,,				2504	0.0583				p.P682P		Atlas-SNP	.											PKHD1_ENST00000340994,NS,malignant_melanoma,-1,4	PKHD1	927	4	0			c.A2046C						PASS	.	T	,	168,4238	110.8+/-149.0	5,158,2040	71	73	72		2046,2046	-11.3	0	6	dbSNP_111	72	952,7648	207.9+/-249.5	60,832,3408	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	65,990,5448	GG,GT,TT		11.0698,3.813,8.6114	,	682/4075,682/3397	51917968	1120,11886	2203	4300	6503	SO:0001819	synonymous_variant	5314	exon21			CAGCACTGGGGAG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2046A>C	6.37:g.51917968T>G		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	101	38	0.376238	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			T|0.921;G|0.079	0.079	strong		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51917968	T	G	51917968	2	3	23	1	0	0	0	0	0	0	0	1	11971	1567	55	5		5	PKHD1	6	51917968	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1234959	51917968	119197099	1639	18095										
GSTA2	2939	hgsc.bcm.edu	37	chr6	52617738	52617738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctcaggttgactaaaggGcagaagaaggatcatttcac	10	8	3	3	rs2234951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:52617738G>A	ENST00000493422.1	-	5	483	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	110	GST C-terminal.		P -> S (in dbSNP:rs2234951).		epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TGACTAAAGGGCAGAAGAAGG	0.383													.|||	354	0.0706869	0.0015	0.0216	5008	,	,		19157	0.13		0.0527	False		,,,				2504	0.1564				p.P110S		Atlas-SNP	.											.	GSTA2	33	.	0			c.C328T	GRCh37	CM040431	GSTA2	M	rs2234951	PASS	.	G	SER/PRO	34,4372		0,34,2169	208	195	199		328	1.3	0	6	dbSNP_98	199	298,8302		6,286,4008	yes	missense	GSTA2	NM_000846.4	74	6,320,6177	AA,AG,GG		3.4651,0.7717,2.5527	benign	110/223	52617738	332,12674	2203	4300	6503	SO:0001583	missense	2939	exon5			TAAAGGGCAGAAG	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.328C>T	6.37:g.52617738G>A	ENSP00000420168:p.Pro110Ser	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	207	111	0.536232	NM_000846	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	124	0.056776556776556776	2	0.0040650406504065045	7	0.019337016574585635	72	0.1258741258741259	43	0.05672823218997362	N	9.997	1.232425	0.22626	0.007717	0.034651	ENSG00000244067	ENST00000493422	T	0.02015	4.5	2.26	1.34	0.21922	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01489	0.0048	M	0.83118	2.625	0.80722	P	0.0	B	0.12013	0.005	B	0.15052	0.012	T	0.21861	-1.0233	9	0.45353	T	0.12	.	8.1054	0.30883	0.0:0.0:0.7573:0.2427	rs2234951;rs16882924;rs61371438;rs2234951	110	P09210	GSTA2_HUMAN	S	110	ENSP00000420168:P110S	ENSP00000420168:P110S	P	-	1	0	GSTA2	52725697	0.001000	0.12720	0.001000	0.08648	0.359000	0.29487	0.375000	0.20518	0.498000	0.27948	0.306000	0.20318	CCC	G|0.960;A|0.040	0.040	strong		0.383	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		A	52617738	G	A	52617738	3	1	23	1	0	0	0	0	1	0	0	0	6831	1203	42	2	352	2	GSTA2	6	52617738	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	699770	52617738	118497329	1640	18096										
KLHL31	401265	hgsc.bcm.edu	37	chr6	53519857	53519857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaatgactaagtcacataGgaagttctcctgccgcattt	7	11	2	1	rs12210809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:53519857G>A	ENST00000407079.1	-	1	213	c.214C>T	c.(214-216)Cta>Tta	p.L72L	KLHL31_ENST00000370905.3_Silent_p.L72L			Q9H511	KLH31_HUMAN	kelch-like family member 31	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCACATAGGAAGTTCTCC	0.408													G|||	2456	0.490415	0.1694	0.6729	5008	,	,		18848	0.5982		0.5924	False		,,,				2504	0.5787				p.L72L		Atlas-SNP	.											.	KLHL31	48	.	0			c.C214T						PASS	.	G		1038,3368	379.9+/-323.5	113,812,1278	90	83	85		214	4.4	1	6	dbSNP_120	85	5214,3386	639.8+/-399.5	1559,2096,645	no	coding-synonymous	KLHL31	NM_001003760.4		1672,2908,1923	AA,AG,GG		39.3721,23.5588,48.0701		72/635	53519857	6252,6754	2203	4300	6503	SO:0001819	synonymous_variant	401265	exon2			CACATAGGAAGTT		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.214C>T	6.37:g.53519857G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	208	106	0.509615	NM_001003760	A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	CCDS34478.1																																																																																			G|0.516;A|0.484	0.484	strong		0.408	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53519857	G	A	53519857	2	1	23	1	0	0	0	0	0	0	0	1	8385	991	35	2		2	KLHL31	6	53519857	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	902119	53519857	117595210	1641	18097										
TINAG	27283	hgsc.bcm.edu	37	chr6	54173413	54173413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaatctggatggagaagcAgtatttatctcaaagagaag	11	4	2	3	rs2297980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:54173413A>G	ENST00000259782.4	+	1	161	c.65A>G	c.(64-66)cAg>cGg	p.Q22R	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.Q18R|TINAG_ENST00000370864.3_Missense_Mutation_p.Q4R	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	22			Q -> R (in dbSNP:rs2297980).		cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGAGAAGCAGTATTTATCT	0.403													A|||	305	0.0609026	0.0961	0.0418	5008	,	,		20239	0.005		0.0905	False		,,,				2504	0.0542				p.Q22R		Atlas-SNP	.											.	TINAG	102	.	0			c.A65G						PASS	.	A	ARG/GLN	454,3952	217.4+/-235.8	27,400,1776	78	75	76		65	-4	0	6	dbSNP_100	76	911,7689	201.7+/-245.1	48,815,3437	yes	missense	TINAG	NM_014464.3	43	75,1215,5213	GG,GA,AA		10.593,10.3041,10.4952	benign	22/477	54173413	1365,11641	2203	4300	6503	SO:0001583	missense	27283	exon1			AGAAGCAGTATTT	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.65A>G	6.37:g.54173413A>G	ENSP00000259782:p.Gln22Arg	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	145	77	0.531034	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	147	0.0673076923076923	49	0.09959349593495935	23	0.06353591160220995	4	0.006993006993006993	71	0.09366754617414248	A	6.649	0.488254	0.12641	0.103041	0.10593	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.64618	1.99;-0.11;1.93	5.13	-4.04	0.04010	.	1.522260	0.03689	N	0.246789	T	0.20901	0.0503	L	0.52364	1.645	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.04178	-1.0971	9	0.05959	T	0.93	.	3.7152	0.08435	0.3908:0.0:0.3328:0.2765	rs2297980;rs52793231;rs59264675;rs2297980	22;22	Q9UJW2;Q7Z477	TINAG_HUMAN;.	R	18;22;22;4	ENSP00000359906:Q18R;ENSP00000259782:Q22R;ENSP00000359901:Q4R	ENSP00000259782:Q22R	Q	+	2	0	TINAG	54281372	0.107000	0.21998	0.000000	0.03702	0.868000	0.49771	0.141000	0.16076	-0.930000	0.03752	0.482000	0.46254	CAG	A|0.911;G|0.089	0.089	strong		0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		G	54173413	A	G	54173413	3	3	23	1	0	0	0	0	1	0	0	0	15918	188	7	3	67	3	TINAG	6	54173413	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	653556	54173413	116941654	1642	18098										
BMP5	653	hgsc.bcm.edu	37	chr6	55739553	55739553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtagtcttctataaataaaActggagtgaacatgattgtc	8	6	2	2	rs3734444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:55739553A>G	ENST00000370830.3	-	1	809	c.111T>C	c.(109-111)agT>agC	p.S37S	BMP5_ENST00000446683.2_Silent_p.S37S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	37					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATAAATAAAACTGGAGTGAA	0.433													A|||	2179	0.435104	0.6256	0.5259	5008	,	,		16999	0.1875		0.4592	False		,,,				2504	0.3436				p.S37S		Atlas-SNP	.											.	BMP5	94	.	0			c.T111C						PASS	.	A		2659,1747	646.8+/-398.4	799,1061,343	173	173	173		111	4.6	1	6	dbSNP_107	173	3721,4879	529.0+/-381.5	793,2135,1372	no	coding-synonymous	BMP5	NM_021073.2		1592,3196,1715	GG,GA,AA		43.2674,39.6505,49.0543		37/455	55739553	6380,6626	2203	4300	6503	SO:0001819	synonymous_variant	653	exon1			AATAAAACTGGAG		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.111T>C	6.37:g.55739553A>G		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	79	41	0.518987	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	CCDS4958.1																																																																																			A|0.533;G|0.467	0.467	strong		0.433	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			G	55739553	A	G	55739553	2	3	23	1	0	0	0	0	0	0	0	1	1463	40	2	2		2	BMP5	6	55739553	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1566140	55739553	115375514	1643	18099										
COL21A1	81578	hgsc.bcm.edu	37	chr6	56035495	56035495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttgtgagccattaattacGctggttgttgtaaataataa	8	5	0	1	rs41271846	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56035495G>A	ENST00000244728.5	-	5	1375	c.978C>T	c.(976-978)agC>agT	p.S326S	COL21A1_ENST00000535941.1_Silent_p.S326S|COL21A1_ENST00000370819.1_Silent_p.S326S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	326	Laminin G-like.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATTAATTACGCTGGTTGTTG	0.358													G|||	9	0.00179712	0.0	0.0	5008	,	,		17653	0.0		0.005	False		,,,				2504	0.0041				p.S326S		Atlas-SNP	.											.	COL21A1	201	.	0			c.C978T						PASS	.	G		7,3729		0,7,1861	79	71	74		978	1.5	0.6	6	dbSNP_127	74	72,8136		1,70,4033	no	coding-synonymous	COL21A1	NM_030820.3		1,77,5894	AA,AG,GG		0.8772,0.1874,0.6614		326/958	56035495	79,11865	1868	4104	5972	SO:0001819	synonymous_variant	81578	exon5			AATTACGCTGGTT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.978C>T	6.37:g.56035495G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	113	53	0.469027	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																			G|0.997;A|0.003	0.003	strong		0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	56035495	G	A	56035495	2	1	23	1	0	0	0	0	0	0	0	1	3680	1078	38	1		1	COL21A1	6	56035495	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295942	56035495	115079572	1644	18100										
DST	667	hgsc.bcm.edu	37	chr6	56457044	56457044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caataggttcagataagtgtTtgctcgctgtggcctcacag	11	9	2	1	rs186813964	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56457044T>C	ENST00000361203.3	-	45	12213	c.12206A>G	c.(12205-12207)aAa>aGa	p.K4069R	DST_ENST00000370769.4_Missense_Mutation_p.K4071R|DST_ENST00000312431.6_Missense_Mutation_p.K4069R|DST_ENST00000370788.2_Missense_Mutation_p.K1983R|DST_ENST00000446842.2_Missense_Mutation_p.K3745R|DST_ENST00000421834.2_Missense_Mutation_p.K1983R|DST_ENST00000244364.6_Missense_Mutation_p.K1657R|DST_ENST00000370754.5_Missense_Mutation_p.K4249R			Q03001	DYST_HUMAN	dystonin	4069					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGATAAGTGTTTGCTCGCTGT	0.428													T|||	12	0.00239617	0.0	0.0029	5008	,	,		16441	0.0		0.004	False		,,,				2504	0.0061				p.K1657R		Atlas-SNP	.											DST_ENST00000370769,NS,lymphoid_neoplasm,0,2	DST	1427	2	0			c.A4970G						PASS	.	T	ARG/LYS	2,3780		0,2,1889	81	80	81		4970	3.2	1	6		81	44,8184		0,44,4070	yes	missense	DST	NM_015548.4	26	0,46,5959	CC,CT,TT		0.5348,0.0529,0.383	benign	1657/5172	56457044	46,11964	1891	4114	6005	SO:0001583	missense	667	exon30			AAGTGTTTGCTCG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12206A>G	6.37:g.56457044T>C	ENSP00000354508:p.Lys4069Arg	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	131	64	0.48855	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	12.87	2.068920	0.36470	5.29E-4	0.005348	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51325	1.35;1.35;1.35;1.35;1.35;0.71;1.35;1.35	5.8	3.23	0.37069	.	0.226724	0.30177	N	0.010236	T	0.17492	0.0420	L	0.41710	1.295	0.24732	N	0.993083	B;B;B;B;B	0.15473	0.01;0.011;0.005;0.013;0.004	B;B;B;B;B	0.22880	0.013;0.042;0.011;0.028;0.012	T	0.08722	-1.0708	9	0.15952	T	0.53	.	10.2141	0.43158	0.0:0.1428:0.0:0.8572	.	1983;4071;4249;4069;1657	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	1657;4249;4071;1983;3745;4069;1983;4069	ENSP00000244364:K1657R;ENSP00000359790:K4249R;ENSP00000359805:K4071R;ENSP00000400883:K1983R;ENSP00000393645:K3745R;ENSP00000307959:K4069R;ENSP00000359824:K1983R;ENSP00000354508:K4069R	ENSP00000244364:K1657R	K	-	2	0	DST	56565003	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.130000	0.31393	0.376000	0.24707	0.528000	0.53228	AAA	T|0.998;C|0.002	0.002	strong		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56457044	T	C	56457044	3	2	23	1	0	0	0	0	1	0	0	0	4783	1841	64	2	10765	2	DST	6	56457044	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	421549	56457044	114658023	1645	18101										
DST	667	hgsc.bcm.edu	37	chr6	56485023	56485023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcttccattaatttatttTtttgttgctccaaatcattg	3	7	2	0	rs35497571	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56485023T>C	ENST00000370765.6	-	23	3916	c.3809A>G	c.(3808-3810)aAa>aGa	p.K1270R	DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAATTTATTTTTTTGTTGCTC	0.338													T|||	40	0.00798722	0.0015	0.0086	5008	,	,		20428	0.0		0.0239	False		,,,				2504	0.0082				p.K1270R		Atlas-SNP	.											.	DST	1427	.	0			c.A3809G						PASS	.	T	ARG/LYS,	26,4380	29.0+/-57.7	0,26,2177	54	58	57		3809,	3.3	0.1	6	dbSNP_126	57	239,8361	91.4+/-153.5	5,229,4066	yes	missense,intron	DST	NM_001723.5,NM_015548.4	26,	5,255,6243	CC,CT,TT		2.7791,0.5901,2.0375	,	1270/2650,	56485023	265,12741	2203	4300	6503	SO:0001583	missense	667	exon23			TTATTTTTTTGTT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3809A>G	6.37:g.56485023T>C	ENSP00000359801:p.Lys1270Arg	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	84	39	0.464286	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	28	0.01282051282051282	3	0.006097560975609756	5	0.013812154696132596	0	0.0	20	0.026385224274406333	T	12.17	1.857887	0.32791	0.005901	0.027791	ENSG00000151914	ENST00000370765	T	0.30981	1.51	4.46	3.29	0.37713	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.09310	N	0.999997	B	0.06786	0.001	B	0.10450	0.005	T	0.07233	-1.0783	7	0.56958	D	0.05	.	9.8723	0.41182	0.0:0.081:0.0:0.919	rs35497571	1270	Q03001-3	.	R	1270	ENSP00000359801:K1270R	ENSP00000359801:K1270R	K	-	2	0	DST	56592982	0.977000	0.34250	0.112000	0.21494	0.613000	0.37349	2.680000	0.46918	0.754000	0.32968	0.455000	0.32223	AAA	T|0.983;C|0.017	0.017	strong		0.338	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		C	56485023	T	C	56485023	3	2	23	1	0	0	0	0	1	0	0	0	4783	1841	64	2	16594	2	DST	6	56485023	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	27979	56485023	114630044	1646	18102										
KIAA1586	57691	hgsc.bcm.edu	37	chr6	56911574	56911574	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgggagacccggggtcggaAgtgagtagtcgagtgagggt	20	5	0	3	rs9382680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56911574A>G	ENST00000370733.4	+	1	228	c.21A>G	c.(19-21)gaA>gaG	p.E7E	KIAA1586_ENST00000545356.1_Splice_Site_p.E7E|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	7							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CGGGGTCGGAAGTGAGTAGTC	0.667																																					p.E7E		Atlas-SNP	.											.	KIAA1586	59	.	0			c.A21G						PASS	.						53	53	53					6																	56911574		2202	4300	6502	SO:0001630	splice_region_variant	57691	exon1			GTCGGAAGTGAGT	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.21+1A>G	6.37:g.56911574A>G		Somatic	407	1	0.002457		WXS	Illumina HiSeq	Phase_I	248	90	0.362903	NM_020931	A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	CCDS34480.1																																																																																			A|0.824;G|0.176	0.176	strong		0.667	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	Silent	G	56911574	A	G	56911574	5	3	23	1	0	0	0	0	0	0	1	0	8245	86	3	3	23	3	KIAA1586	6	56911574	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	426551	56911574	114203493	1647	18103										
KIAA1586	57691	hgsc.bcm.edu	37	chr6	56917538	56917538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttttgcattttttaaatGtgaagaaggtgaaaacagac	8	3	0	4	rs6926980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56917538G>A	ENST00000370733.4	+	4	448	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	KIAA1586_ENST00000545356.1_Missense_Mutation_p.V54M|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	81			V -> M (in dbSNP:rs6926980).				nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTTTAAATGTGAAGAAGGT	0.308													a|||	1089	0.217452	0.3646	0.1844	5008	,	,		18422	0.131		0.2406	False		,,,				2504	0.1074				p.V81M		Atlas-SNP	.											.	KIAA1586	59	.	0			c.G241A						PASS	.	A	MET/VAL	1488,2918	666.8+/-401.8	240,1008,955	51	55	54		241	-2.1	0.7	6	dbSNP_116	54	1960,6640	721.5+/-406.4	217,1526,2557	yes	missense	KIAA1586	NM_020931.2	21	457,2534,3512	AA,AG,GG		22.7907,33.7721,26.5108	benign	81/788	56917538	3448,9558	2203	4300	6503	SO:0001583	missense	57691	exon4			TTAAATGTGAAGA	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.241G>A	6.37:g.56917538G>A	ENSP00000359768:p.Val81Met	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	19	0.358491	NM_020931	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	475	0.2174908424908425	180	0.36585365853658536	61	0.1685082872928177	59	0.10314685314685315	175	0.23087071240105542	a	2.665	-0.278949	0.05642	0.337721	0.227907	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.38240	1.16;1.15	3.34	-2.07	0.07276	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.80722	P	0.0	B;B	0.12013	0.005;0.005	B;B	0.16289	0.015;0.015	T	0.40683	-0.9550	8	0.22109	T	0.4	.	9.0375	0.36296	0.516:0.0:0.484:0.0	rs6926980;rs52837012;rs61004014;rs6926980	54;81	F5H2N6;Q9HCI6	.;K1586_HUMAN	M	81;54	ENSP00000359768:V81M;ENSP00000445507:V54M	ENSP00000359768:V81M	V	+	1	0	KIAA1586	57025497	0.974000	0.33945	0.701000	0.30321	0.786000	0.44442	-0.165000	0.09968	-0.806000	0.04398	-1.708000	0.00717	GTG	G|0.762;A|0.238	0.238	strong		0.308	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		A	56917538	G	A	56917538	3	1	23	1	0	0	0	0	1	0	0	0	8245	1377	48	2	255	2	KIAA1586	6	56917538	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5964	56917538	114197529	1648	18104										
KIAA1586	57691	hgsc.bcm.edu	37	chr6	56919443	56919443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggtttcaatttaatgaacAtaatttgtacaagggtgaga	11	3	1	2	rs61740375	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:56919443A>G	ENST00000370733.4	+	4	2353	c.2146A>G	c.(2146-2148)Ata>Gta	p.I716V	KIAA1586_ENST00000545356.1_Missense_Mutation_p.I689V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	716							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			tttaatgaacataatttgtac	0.318													a|||	462	0.0922524	0.1142	0.0865	5008	,	,		16956	0.0893		0.0944	False		,,,				2504	0.0675				p.I716V		Atlas-SNP	.											.	KIAA1586	59	.	0			c.A2146G						PASS	.	A	VAL/ILE	440,3944		20,400,1772	25	25	25		2146	2	1	6	dbSNP_129	25	678,7904		29,620,3642	yes	missense	KIAA1586	NM_020931.2	29	49,1020,5414	GG,GA,AA		7.9003,10.0365,8.6226	possibly-damaging	716/788	56919443	1118,11848	2192	4291	6483	SO:0001583	missense	57691	exon4			ATGAACATAATTT	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.2146A>G	6.37:g.56919443A>G	ENSP00000359768:p.Ile716Val	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	117	52	0.444444	NM_020931	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	185	0.08470695970695971	43	0.08739837398373984	30	0.08287292817679558	39	0.06818181818181818	73	0.09630606860158311	a	6.156	0.397023	0.11638	0.100365	0.079003	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21361	2.01;2.01	3.23	2.04	0.26737	Ribonuclease H-like (1);	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.53005	P	4.0000000000040004E-5	B;B	0.21381	0.055;0.055	B;B	0.22386	0.039;0.039	T	0.47275	-0.9130	8	0.11794	T	0.64	.	5.301	0.15778	0.8611:0.0:0.1389:0.0	rs61740375	689;716	F5H2N6;Q9HCI6	.;K1586_HUMAN	V	716;689	ENSP00000359768:I716V;ENSP00000445507:I689V	ENSP00000359768:I716V	I	+	1	0	KIAA1586	57027402	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.205000	0.32308	0.431000	0.26258	-0.290000	0.09829	ATA	A|0.917;G|0.083	0.083	strong		0.318	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		G	56919443	A	G	56919443	3	3	23	1	0	0	0	0	1	0	0	0	8245	217	8	2	2160	2	KIAA1586	6	56919443	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1905	56919443	114195624	1649	18105										
ZNF451	26036	hgsc.bcm.edu	37	chr6	57012930	57012930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaatgtggaagaagcatttCtgagtcattatgaggagcac	11	5	2	3	rs3734738	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:57012930C>T	ENST00000370706.4	+	10	2291	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L683L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L683L	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	683					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAAGCATTTCTGAGTCATTA	0.348													T|||	1096	0.21885	0.3669	0.1888	5008	,	,		21558	0.131		0.2416	False		,,,				2504	0.1074				p.L683L		Atlas-SNP	.											.	ZNF451	181	.	0			c.C2047T						PASS	.	T	,	1498,2908	649.1+/-398.8	247,1004,952	52	54	53		2047,2047	0.5	0.2	6	dbSNP_107	53	1952,6646	704.1+/-405.4	215,1522,2562	no	coding-synonymous,coding-synonymous	ZNF451	NM_001031623.2,NM_015555.2	,	462,2526,3514	TT,TC,CC		22.703,33.9991,26.5303	,	683/1062,683/1014	57012930	3450,9554	2203	4299	6502	SO:0001819	synonymous_variant	26036	exon10			GCATTTCTGAGTC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2047C>T	6.37:g.57012930C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	158	65	0.411392	NM_001031623	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	CCDS43477.1																																																																																			C|0.753;T|0.247	0.247	strong		0.348	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		T	57012930	C	T	57012930	2	4	23	1	0	0	0	0	0	0	0	1	17919	912	32	2		2	ZNF451	6	57012930	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	93487	57012930	114102137	1650	18106										
RAB23	51715	hgsc.bcm.edu	37	chr6	57055354	57055354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctccaccattgagggtacCtgaattctgaccggagtgac	10	11	2	4	rs1040461	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:57055354C>T	ENST00000317483.3	-	7	1238	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	RAB23_ENST00000468148.1_Missense_Mutation_p.G207S	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	207			G -> S (in dbSNP:rs1040461). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGAGGGTACCTGAATTCTGA	0.428													T|||	578	0.115415	0.1989	0.0937	5008	,	,		18583	0.0883		0.0944	False		,,,				2504	0.0675				p.G207S		Atlas-SNP	.											.	RAB23	22	.	0			c.G619A						PASS	.	T	SER/GLY,SER/GLY	806,3600	749.5+/-412.0	55,696,1452	187	173	178		619,619	5.8	1	6	dbSNP_86	178	690,7910	788.2+/-407.6	30,630,3640	yes	missense,missense	RAB23	NM_016277.3,NM_183227.1	56,56	85,1326,5092	TT,TC,CC		8.0233,18.2932,11.5024	benign,benign	207/238,207/238	57055354	1496,11510	2203	4300	6503	SO:0001583	missense	51715	exon7			GGGTACCTGAATT	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.619G>A	6.37:g.57055354C>T	ENSP00000320413:p.Gly207Ser	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	164	76	0.463415	NM_016277	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	CCDS4962.1	232	0.10622710622710622	88	0.17886178861788618	32	0.08839779005524862	39	0.06818181818181818	73	0.09630606860158311	T	8.357	0.832163	0.16820	0.182932	0.080233	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.63744	-0.06;-0.06	5.79	5.79	0.91817	.	0.086937	0.85682	N	0.000000	T	0.11965	0.0291	N	0.01576	-0.805	0.50171	P	1.4199999999997548E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.08743	-1.0707	9	0.02654	T	1	-2.1513	11.9425	0.52909	0.0:0.0678:0.0:0.9322	rs1040461;rs52810972;rs57342085;rs1040461	207	Q9ULC3	RAB23_HUMAN	S	207	ENSP00000320413:G207S;ENSP00000417610:G207S	ENSP00000320413:G207S	G	-	1	0	RAB23	57163313	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.015000	0.57152	1.029000	0.39812	-0.521000	0.04368	GGT	C|0.892;T|0.108	0.108	strong		0.428	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			T	57055354	C	T	57055354	3	4	23	1	0	0	0	0	1	0	0	0	12910	681	24	2	98	2	RAB23	6	57055354	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42424	57055354	114059713	1651	18107										
EYS	346007	hgsc.bcm.edu	37	chr6	66112409	66112409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacatttcttacatgtagcAttattcctcaaaggaaatga	5	8	3	1	rs974110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:66112409A>G	ENST00000370621.3	-	7	1672	c.1146T>C	c.(1144-1146)aaT>aaC	p.N382N	EYS_ENST00000370618.3_Silent_p.N382N|EYS_ENST00000342421.5_Silent_p.N382N|EYS_ENST00000503581.1_Silent_p.N382N|EYS_ENST00000370616.2_Silent_p.N382N|EYS_ENST00000393380.2_Silent_p.N382N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	382	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TACATGTAGCATTATTCCTCA	0.299													G|||	2534	0.50599	0.5129	0.5072	5008	,	,		14830	0.4554		0.5388	False		,,,				2504	0.5143				p.N382N		Atlas-SNP	.											.	EYS	527	.	0			c.T1146C						PASS	.	G	,,	2353,2051	562.1+/-380.9	627,1099,476	61	61	61		1146,1146,1146	-1.5	0	6	dbSNP_86	61	4501,4071	554.1+/-386.4	1215,2071,1000	no	coding-synonymous,coding-synonymous,coding-synonymous	EYS	NM_001142800.1,NM_001142801.1,NM_198283.1	,,	1842,3170,1476	GG,GA,AA		47.4918,46.5713,47.1794	,,	382/3145,382/620,382/595	66112409	6854,6122	2202	4286	6488	SO:0001819	synonymous_variant	346007	exon7			TGTAGCATTATTC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1146T>C	6.37:g.66112409A>G		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	215	96	0.446512	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				A|0.498;G|0.502	0.502	strong		0.299	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66112409	A	G	66112409	2	3	23	1	0	0	0	0	0	0	0	1	5332	214	8	2		2	EYS	6	66112409	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9057055	66112409	105002658	1652	18108										
EYS	346007	hgsc.bcm.edu	37	chr6	66204945	66204945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaaagtaactgatcttccGttgtggtattttgcacacag	8	8	1	1	rs12193967	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:66204945G>A	ENST00000370621.3	-	4	885	c.359C>T	c.(358-360)aCg>aTg	p.T120M	EYS_ENST00000370618.3_Missense_Mutation_p.T120M|EYS_ENST00000342421.5_Missense_Mutation_p.T120M|EYS_ENST00000503581.1_Missense_Mutation_p.T120M|EYS_ENST00000370616.2_Missense_Mutation_p.T120M|EYS_ENST00000393380.2_Missense_Mutation_p.T120M			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	120			T -> M (in dbSNP:rs12193967). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20333770}.		detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGATCTTCCGTTGTGGTATT	0.363													G|||	853	0.170327	0.0091	0.2378	5008	,	,		21685	0.2411		0.2396	False		,,,				2504	0.1963				p.T120M		Atlas-SNP	.											.	EYS	527	.	0			c.C359T						PASS	.	G	MET/THR,MET/THR,MET/THR	198,4208	122.1+/-159.5	1,196,2006	75	70	72		359,359,359	-1.7	0	6	dbSNP_120	72	1891,6709	334.9+/-321.2	219,1453,2628	yes	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	81,81,81	220,1649,4634	AA,AG,GG		21.9884,4.4939,16.0618	benign,benign,benign	120/595,120/620,120/3145	66204945	2089,10917	2203	4300	6503	SO:0001583	missense	346007	exon4			TCTTCCGTTGTGG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.359C>T	6.37:g.66204945G>A	ENSP00000359655:p.Thr120Met	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		402	0.18406593406593408	10	0.02032520325203252	71	0.19613259668508287	143	0.25	178	0.23482849604221637	G	12.18	1.859263	0.32884	0.044939	0.219884	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90261	-1.66;-1.65;-1.65;-2.64;-2.6;-2.6	4.92	-1.74	0.08056	.	.	.	.	.	T	0.66752	0.2821	N	0.24115	0.695	0.80722	P	0.0	B;B;B	0.22080	0.063;0.064;0.038	B;B;B	0.19666	0.026;0.008;0.006	T	0.46582	-0.9181	8	0.59425	D	0.04	.	3.9978	0.09566	0.4037:0.0:0.3099:0.2865	rs12193967;rs52829139;rs58893692;rs12193967	120;120;120	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	M	120	ENSP00000424243:T120M;ENSP00000359655:T120M;ENSP00000359650:T120M;ENSP00000377042:T120M;ENSP00000341818:T120M;ENSP00000359652:T120M	ENSP00000341818:T120M	T	-	2	0	EYS	66261666	0.001000	0.12720	0.006000	0.13384	0.581000	0.36288	0.007000	0.13174	-0.672000	0.05266	-0.186000	0.12905	ACG	A|0.168;G|0.832	0.168	strong		0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66204945	G	A	66204945	3	1	23	1	0	0	0	0	1	0	0	0	5332	1145	40	1	9197	1	EYS	6	66204945	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	92536	66204945	104910122	1653	18109										
SLC17A5	26503	hgsc.bcm.edu	37	chr6	74354175	74354175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagcagaatgctctggacaCgccttggaagttctattatc	11	9	2	1	rs472294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:74354175C>T	ENST00000355773.5	-	2	514	c.246G>A	c.(244-246)gcG>gcA	p.A82A	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Silent_p.A82A	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCTGGACACGCCTTGGAAG	0.343													C|||	667	0.133187	0.1641	0.1571	5008	,	,		15464	0.1845		0.0726	False		,,,				2504	0.0838				p.A82A		Atlas-SNP	.											.	SLC17A5	42	.	0			c.G246A						PASS	.	C		695,3711	291.5+/-281.6	62,571,1570	74	72	73		246	1.6	0.8	6	dbSNP_83	73	631,7969	162.6+/-215.3	25,581,3694	no	coding-synonymous	SLC17A5	NM_012434.4		87,1152,5264	TT,TC,CC		7.3372,15.7739,10.1953		82/496	74354175	1326,11680	2203	4300	6503	SO:0001819	synonymous_variant	26503	exon2			TGGACACGCCTTG	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.246G>A	6.37:g.74354175C>T		Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_012434	Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	CCDS4981.1																																																																																			C|0.888;T|0.112	0.112	strong		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			T	74354175	C	T	74354175	2	4	23	1	0	0	0	0	0	0	0	1	14420	523	19	1		1	SLC17A5	6	74354175	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8149230	74354175	96760892	1654	18110										
CD109	135228	hgsc.bcm.edu	37	chr6	74497009	74497009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatattctaatgacttcaaAtgaaataaatgccacaggcc	6	8	2	3	rs2351528	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:74497009A>G	ENST00000287097.5	+	21	2502	c.2390A>G	c.(2389-2391)aAt>aGt	p.N797S	CD109_ENST00000437994.2_Missense_Mutation_p.N797S|CD109_ENST00000422508.2_Missense_Mutation_p.N720S			Q6YHK3	CD109_HUMAN	CD109 molecule	797			N -> S (in dbSNP:rs2351528). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14980714, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGACTTCAAATGAAATAAAT	0.378													G|||	1865	0.372404	0.4675	0.4049	5008	,	,		19371	0.4087		0.339	False		,,,				2504	0.2178				p.N797S		Atlas-SNP	.											CD109,caecum,carcinoma,0,1	CD109	170	1	0			c.A2390G						scavenged	.	G	SER/ASN,SER/ASN,SER/ASN	2051,2355	608.2+/-391.1	495,1061,647	65	68	67		2390,2159,2390	1.6	0.1	6	dbSNP_100	67	3057,5543	660.2+/-401.7	552,1953,1795	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	46,46,46	1047,3014,2442	GG,GA,AA		35.5465,46.5502,39.2742	benign,benign,benign	797/1429,720/1369,797/1446	74497009	5108,7898	2203	4300	6503	SO:0001583	missense	135228	exon21			CTTCAAATGAAAT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2390A>G	6.37:g.74497009A>G	ENSP00000287097:p.Asn797Ser	Somatic	69	1	0.0144928		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	879	0.4024725274725275	250	0.508130081300813	143	0.39502762430939226	239	0.4178321678321678	247	0.3258575197889182	G	0.021	-1.425324	0.01126	0.465502	0.355465	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.22945	1.93;2.15;1.93	5.46	1.63	0.23807	.	1.129070	0.06361	N	0.711652	T	0.10380	0.0254	L	0.53671	1.685	0.58432	P	5.000000000032756E-6	B;B;B	0.24618	0.008;0.107;0.004	B;B;B	0.16289	0.014;0.015;0.009	T	0.29119	-1.0022	9	0.30078	T	0.28	.	10.7397	0.46145	0.8168:0.0:0.1832:0.0	rs2351528;rs4632862;rs52791004;rs60212756;rs2351528	720;797;797	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	S	797;720;797	ENSP00000388062:N797S;ENSP00000404475:N720S;ENSP00000287097:N797S	ENSP00000287097:N797S	N	+	2	0	CD109	74553730	1.000000	0.71417	0.079000	0.20413	0.012000	0.07955	1.818000	0.39012	-0.068000	0.12953	-1.874000	0.00550	AAT	A|0.597;G|0.403	0.403	strong		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74497009	A	G	74497009	3	3	23	1	0	0	0	0	1	0	0	0	2963	101	4	2	2472	2	CD109	6	74497009	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	142834	74497009	96618058	1655	18111										
CD109	135228	hgsc.bcm.edu	37	chr6	74497152	74497152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacccactgcttctgatgctGtcacccagatgattttagta	7	12	2	3	rs5023688	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:74497152G>A	ENST00000287097.5	+	21	2645	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	CD109_ENST00000437994.2_Missense_Mutation_p.V845I|CD109_ENST00000422508.2_Missense_Mutation_p.V768I			Q6YHK3	CD109_HUMAN	CD109 molecule	845			V -> I (in dbSNP:rs5023688). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14980714, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:17974005}.		negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTGATGCTGTCACCCAGAT	0.403													A|||	1861	0.371605	0.4644	0.4049	5008	,	,		18074	0.4087		0.339	False		,,,				2504	0.2178				p.V845I		Atlas-SNP	.											.	CD109	170	.	0			c.G2533A						PASS	.	A	ILE/VAL,ILE/VAL,ILE/VAL	2043,2363	610.5+/-391.6	492,1059,652	94	92	93		2533,2302,2533	-9.1	0	6	dbSNP_113	93	3057,5543	660.7+/-401.8	552,1953,1795	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	29,29,29	1044,3012,2447	AA,AG,GG		35.5465,46.3686,39.2127	benign,benign,benign	845/1429,768/1369,845/1446	74497152	5100,7906	2203	4300	6503	SO:0001583	missense	135228	exon21			GATGCTGTCACCC	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2533G>A	6.37:g.74497152G>A	ENSP00000287097:p.Val845Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	111	59	0.531532	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	878	0.40201465201465203	249	0.5060975609756098	143	0.39502762430939226	239	0.4178321678321678	247	0.3258575197889182	A	0.009	-1.810761	0.00600	0.463686	0.355465	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30981	1.51;1.78;1.56	5.45	-9.1	0.00714	.	0.845913	0.10991	N	0.611562	T	0.04907	0.0132	N	0.25060	0.705	0.80722	P	0.0	B;B;B	0.15930	0.002;0.015;0.0	B;B;B	0.24269	0.008;0.052;0.007	T	0.28554	-1.0040	9	0.13108	T	0.6	.	11.6482	0.51273	0.525:0.1959:0.2791:0.0	rs5023688;rs52793634;rs58164751;rs5023688	768;845;845	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	845;768;845	ENSP00000388062:V845I;ENSP00000404475:V768I;ENSP00000287097:V845I	ENSP00000287097:V845I	V	+	1	0	CD109	74553873	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-1.860000	0.01656	-2.465000	0.00533	-2.361000	0.00239	GTC	G|0.598;A|0.402	0.402	strong		0.403	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74497152	G	A	74497152	3	1	23	1	0	0	0	0	1	0	0	0	2963	1377	48	2	2615	2	CD109	6	74497152	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	143	74497152	96617915	1656	18112										
COL12A1	1303	hgsc.bcm.edu	37	chr6	75836079	75836079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccttacccactggcttatAtactattttatatccaagaa	3	10	0	1	rs200450866		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:75836079A>G	ENST00000322507.8	-	39	6757	c.6448T>C	c.(6448-6450)Tat>Cat	p.Y2150H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2150H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y986H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y2150H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2150	Fibronectin type-III 17. {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						ACTGGCTTATATACTATTTTA	0.428																																					p.Y2150H		Atlas-SNP	.											.	COL12A1	385	.	0			c.T6448C						PASS	.	A	HIS/TYR,HIS/TYR	0,3684		0,0,1842	108	103	105		6448,2956	5.7	1	6		105	3,8163		0,3,4080	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	83,83	0,3,5922	GG,GA,AA		0.0367,0.0,0.0253	probably-damaging,probably-damaging	2150/3064,986/1900	75836079	3,11847	1842	4083	5925	SO:0001583	missense	1303	exon39			GCTTATATACTAT	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.6448T>C	6.37:g.75836079A>G	ENSP00000325146:p.Tyr2150His	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	84	40	0.47619	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498898	0.85069	0.0	3.67E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.86805	2.84	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83385	0.0014	10	0.87932	D	0	.	15.9743	0.80049	1.0:0.0:0.0:0.0	.	986;2150	Q99715-2;Q99715	.;COCA1_HUMAN	H	2150;2150;986;2150;2150	ENSP00000325146:Y2150H;ENSP00000305147:Y986H;ENSP00000412864:Y2150H;ENSP00000421216:Y2150H	ENSP00000325146:Y2150H	Y	-	1	0	COL12A1	75892799	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.905000	0.92613	2.173000	0.68751	0.528000	0.53228	TAT	.	.	weak		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		G	75836079	A	G	75836079	3	3	23	1	0	0	0	0	1	0	0	0	3669	449	16	2	2855	2	COL12A1	6	75836079	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1338927	75836079	95278988	1657	18113										
IMPG1	3617	hgsc.bcm.edu	37	chr6	76640781	76640781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcatatcctggtttgcagCgacactccgcttcctcagtc	8	14	2	0	rs3734313	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:76640781C>T	ENST00000369950.3	-	15	2321	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGTTTGCAGCGACACTCCGC	0.567													C|||	962	0.192093	0.1293	0.2032	5008	,	,		18124	0.254		0.1809	False		,,,				2504	0.2168				p.R711H	Pancreas(37;839 1141 2599 26037)	Atlas-SNP	.											IMPG1,NS,carcinoma,-1,1	IMPG1	143	1	0			c.G2132A						PASS	.	C	HIS/ARG	553,3853	249.3+/-256.8	36,481,1686	119	95	103		2132	1.2	1	6	dbSNP_107	103	1460,7140	278.6+/-293.5	118,1224,2958	yes	missense	IMPG1	NM_001563.2	29	154,1705,4644	TT,TC,CC		16.9767,12.5511,15.4775	probably-damaging	711/798	76640781	2013,10993	2203	4300	6503	SO:0001583	missense	3617	exon15			TTGCAGCGACACT	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2132G>A	6.37:g.76640781C>T	ENSP00000358966:p.Arg711His	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	158	70	0.443038	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	442	0.20238095238095238	66	0.13414634146341464	68	0.1878453038674033	165	0.28846153846153844	143	0.18865435356200527	C	13.01	2.108235	0.37242	0.125511	0.169767	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20463	2.07;2.15	5.45	1.18	0.20946	Epidermal growth factor-like, type 3 (1);	0.353536	0.24280	N	0.039906	T	0.04543	0.0124	L	0.46157	1.445	0.09310	P	0.9999999898373	P	0.52316	0.952	B	0.35770	0.21	T	0.33369	-0.9871	9	0.34782	T	0.22	.	3.7999	0.08754	0.2697:0.437:0.0:0.2933	rs3734313;rs52816738;rs61241500;rs3734313	711	Q17R60	IMPG1_HUMAN	H	711;72	ENSP00000358966:R711H;ENSP00000358968:R72H	ENSP00000358966:R711H	R	-	2	0	IMPG1	76697501	0.112000	0.22096	0.992000	0.48379	0.274000	0.26718	0.372000	0.20467	0.283000	0.22279	0.461000	0.40582	CGC	C|0.826;T|0.174	0.174	strong		0.567	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		T	76640781	C	T	76640781	3	4	23	1	0	0	0	0	1	0	0	0	7728	768	27	1	273	1	IMPG1	6	76640781	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	804702	76640781	94474286	1658	18114										
IRAK1BP1	134728	hgsc.bcm.edu	37	chr6	79577412	79577412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctaccgggcttacgccaccCcctctcctcaacacaagccc	6	21	2	0	rs41269339	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:79577412C>G	ENST00000369940.2	+	1	224	c.119C>G	c.(118-120)cCc>cGc	p.P40R		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	40	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		TTACGCCACCCCCTCTCCTCA	0.652													C|||	72	0.014377	0.0023	0.0259	5008	,	,		16173	0.0		0.0457	False		,,,				2504	0.0051				p.P40R		Atlas-SNP	.											.	IRAK1BP1	18	.	0			c.C119G						PASS	.	C	ARG/PRO	43,4363	44.6+/-78.6	0,43,2160	57	56	56		119	2	0	6	dbSNP_127	56	330,8270	110.4+/-170.8	10,310,3980	yes	missense	IRAK1BP1	NM_001010844.1	103	10,353,6140	GG,GC,CC		3.8372,0.9759,2.8679	benign	40/261	79577412	373,12633	2203	4300	6503	SO:0001583	missense	134728	exon1			GCCACCCCCTCTC	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.119C>G	6.37:g.79577412C>G	ENSP00000358956:p.Pro40Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	62	28	0.451613	NM_001010844		Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	39	0.017857142857142856	0	0.0	9	0.024861878453038673	0	0.0	30	0.0395778364116095	C	8.257	0.810375	0.16537	0.009759	0.038372	ENSG00000146243	ENST00000369940	.	.	.	3.96	2.05	0.26809	.	0.399954	0.25408	N	0.030891	T	0.09686	0.0238	L	0.32530	0.975	0.09310	N	1	B	0.34015	0.435	B	0.30855	0.121	T	0.15954	-1.0419	8	.	.	.	-5.8883	8.9476	0.35769	0.3979:0.6021:0.0:0.0	rs41269339;rs61748613	40	Q5VVH5	IKBP1_HUMAN	R	40	.	.	P	+	2	0	IRAK1BP1	79634131	0.000000	0.05858	0.022000	0.16811	0.003000	0.03518	0.300000	0.19156	0.861000	0.35504	-0.226000	0.12346	CCC	C|0.975;G|0.025	0.025	strong		0.652	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		G	79577412	C	G	79577412	3	3	23	1	0	0	0	0	1	0	0	0	7822	623	22	4	121	4	IRAK1BP1	6	79577412	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2936631	79577412	91537655	1659	18115										
IBTK	25998	hgsc.bcm.edu	37	chr6	82900811	82900811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcattcactggtttggggGcttttgaaggagtgaataaa	13	4	1	2	rs9449444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:82900811G>A	ENST00000306270.7	-	25	4103	c.3554C>T	c.(3553-3555)gCc>gTc	p.A1185V	IBTK_ENST00000510291.1_Missense_Mutation_p.A1170V|IBTK_ENST00000503631.1_Missense_Mutation_p.A984V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1185			A -> V (in dbSNP:rs9449444). {ECO:0000269|PubMed:11577348, ECO:0000269|PubMed:15489334}.		negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGGTTTGGGGGCTTTTGAAGG	0.338													G|||	1236	0.246805	0.2519	0.3055	5008	,	,		13863	0.2014		0.2276	False		,,,				2504	0.2648				p.A1185V		Atlas-SNP	.											.	IBTK	128	.	0			c.C3554T						PASS	.	G	VAL/ALA	1064,3322		144,776,1273	103	94	97		3554	4	0.5	6	dbSNP_119	97	1772,6814		188,1396,2709	yes	missense	IBTK	NM_015525.2	64	332,2172,3982	AA,AG,GG		20.6382,24.259,21.8625	benign	1185/1354	82900811	2836,10136	2193	4293	6486	SO:0001583	missense	25998	exon25			TTGGGGGCTTTTG	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3554C>T	6.37:g.82900811G>A	ENSP00000305721:p.Ala1185Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	528	0.24175824175824176	119	0.241869918699187	109	0.3011049723756906	123	0.21503496503496503	177	0.23350923482849603	G	2.125	-0.400526	0.04865	0.24259	0.206382	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27402	1.98;1.67;1.98	5.81	4.02	0.46733	.	1.048820	0.07361	N	0.884126	T	0.06826	0.0174	N	0.12182	0.205	0.80722	P	0.0	B;B;B;B	0.18610	0.001;0.0;0.029;0.0	B;B;B;B	0.17433	0.003;0.002;0.018;0.002	T	0.31752	-0.9932	9	0.26408	T	0.33	3.0471	8.5571	0.33487	0.1472:0.128:0.7248:0.0	rs9449444;rs17719603;rs17845821;rs17858788;rs52808118;rs61275733;rs9449444	984;1170;136;1185	E9PDR5;E7EPI0;B3KX60;Q9P2D0	.;.;.;IBTK_HUMAN	V	1185;984;1170	ENSP00000305721:A1185V;ENSP00000422762:A984V;ENSP00000426405:A1170V	ENSP00000305721:A1185V	A	-	2	0	IBTK	82957530	0.380000	0.25131	0.500000	0.27589	0.254000	0.26022	1.309000	0.33539	0.787000	0.33731	0.650000	0.86243	GCC	G|0.756;A|0.244	0.244	strong		0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		A	82900811	G	A	82900811	3	1	23	1	0	0	0	0	1	0	0	0	7476	1203	42	2	527	2	IBTK	6	82900811	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3323399	82900811	88214256	1660	18116										
IBTK	25998	hgsc.bcm.edu	37	chr6	82933309	82933309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgaggagcagttacacaCttttctccattgggatctag	10	9	2	1	rs111957007|rs9361904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:82933309C>T	ENST00000306270.7	-	8	1521	c.972G>A	c.(970-972)aaG>aaA	p.K324K	IBTK_ENST00000510291.1_Silent_p.K324K|IBTK_ENST00000503631.1_Silent_p.K324K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	324					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.K324K(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAGTTACACACTTTTCTCCAT	0.413													C|||	1285	0.256589	0.2912	0.3055	5008	,	,		19622	0.2014		0.2266	False		,,,				2504	0.2628				p.K324K		Atlas-SNP	.											IBTK,NS,carcinoma,0,1	IBTK	128	1	1	Substitution - coding silent(1)	stomach(1)	c.G972A						PASS	.	C		1215,3191	414.8+/-337.0	181,853,1169	71	67	68		972	1.5	1	6	dbSNP_119	68	1761,6839	314.1+/-311.6	172,1417,2711	no	coding-synonymous	IBTK	NM_015525.2		353,2270,3880	TT,TC,CC		20.4767,27.576,22.8817		324/1354	82933309	2976,10030	2203	4300	6503	SO:0001819	synonymous_variant	25998	exon8			TACACACTTTTCT	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.972G>A	6.37:g.82933309C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	CCDS34490.1																																																																																			C|0.756;T|0.244	0.244	strong		0.413	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		T	82933309	C	T	82933309	2	4	23	1	0	0	0	0	0	0	0	1	7476	564	20	2		2	IBTK	6	82933309	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	32498	82933309	88181758	1661	18117										
MRAP2	112609	hgsc.bcm.edu	37	chr6	84799185	84799185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccactttcccagacctcacaCaaagacctggattgagaaac	6	14	1	3	rs2875382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:84799185C>T	ENST00000257776.4	+	4	738	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	201					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.H201H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGACCTCACACAAAGACCTGG	0.413													T|||	1749	0.349241	0.711	0.2666	5008	,	,		20311	0.1736		0.2306	False		,,,				2504	0.2219				p.H201H		Atlas-SNP	.											MRAP2,NS,carcinoma,0,1	MRAP2	40	1	1	Substitution - coding silent(1)	stomach(1)	c.C603T						scavenged	.	T		2840,1566	489.9+/-361.6	915,1010,278	94	100	98		603	-0.5	0	6	dbSNP_101	98	1802,6798	732.8+/-406.9	196,1410,2694	no	coding-synonymous	MRAP2	NM_138409.2		1111,2420,2972	TT,TC,CC		20.9535,35.5424,35.6912		201/206	84799185	4642,8364	2203	4300	6503	SO:0001819	synonymous_variant	112609	exon4			CTCACACAAAGAC	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.603C>T	6.37:g.84799185C>T		Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	108	59	0.546296	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	CCDS5001.1																																																																																			C|0.654;T|0.346	0.346	strong		0.413	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		T	84799185	C	T	84799185	2	4	23	1	0	0	0	0	0	0	0	1	9754	477	17	2		2	MRAP2	6	84799185	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1865876	84799185	86315882	1662	18118										
KIAA1009	22832	hgsc.bcm.edu	37	chr6	84881429	84881429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttacttgattatataatcgTtcattttcctttttaaaaac	2	6	1	1	rs41271603	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:84881429T>C	ENST00000403245.3	-	17	2289	c.2175A>G	c.(2173-2175)gaA>gaG	p.E725E	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.E649E	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATATAATCGTTCATTTTCCT	0.274													T|||	245	0.0489217	0.0121	0.0317	5008	,	,		13780	0.0258		0.0805	False		,,,				2504	0.1022				p.E725E		Atlas-SNP	.											KIAA1009,NS,carcinoma,-2,1	KIAA1009	119	1	0			c.A2175G						PASS	.	T		78,4314		1,76,2119	76	71	72		2175	3	0.9	6	dbSNP_127	72	458,8100		9,440,3830	no	coding-synonymous	KIAA1009	NM_014895.2		10,516,5949	CC,CT,TT		5.3517,1.776,4.139		725/1404	84881429	536,12414	2196	4279	6475	SO:0001819	synonymous_variant	22832	exon17			TAATCGTTCATTT																												ENST00000403245.3:c.2175A>G	6.37:g.84881429T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	144	66	0.458333	NM_014895		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																			T|0.957;C|0.043	0.043	strong		0.274	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84881429	T	C	84881429	2	2	23	1	0	0	0	0	0	0	0	1	8203	1722	60	2		2	KIAA1009	6	84881429	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	82244	84881429	86233638	1663	18119										
KIAA1009	22832	hgsc.bcm.edu	37	chr6	84904604	84904604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatctgtaagtttttaccaGattccatagtagagatgttt	7	6	2	2	rs17790493	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:84904604G>C	ENST00000403245.3	-	10	1139	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S266C	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTTTTTACCAGATTCCATAGT	0.284													G|||	50	0.00998403	0.0015	0.0173	5008	,	,		17468	0.0		0.0328	False		,,,				2504	0.0031				p.S342C		Atlas-SNP	.											KIAA1009,NS,carcinoma,0,1	KIAA1009	119	1	0			c.C1025G						PASS	.	G	CYS/SER	35,4369	40.0+/-72.8	0,35,2167	114	107	109		1025	5.1	1	6	dbSNP_123	109	214,8382	90.4+/-152.6	4,206,4088	yes	missense	KIAA1009	NM_014895.2	112	4,241,6255	CC,CG,GG		2.4895,0.7947,1.9154	probably-damaging	342/1404	84904604	249,12751	2202	4298	6500	SO:0001583	missense	22832	exon10			TTACCAGATTCCA																												ENST00000403245.3:c.1025C>G	6.37:g.84904604G>C	ENSP00000385215:p.Ser342Cys	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	140	63	0.45	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	39	0.017857142857142856	0	0.0	9	0.024861878453038673	0	0.0	30	0.0395778364116095	G	15.89	2.966270	0.53507	0.007947	0.024895	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.17854	2.25;2.25	5.08	5.08	0.68730	.	0.101115	0.44688	D	0.000429	T	0.37019	0.0988	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31420	-0.9944	10	0.87932	D	0	-20.0543	17.2476	0.87032	0.0:0.0:1.0:0.0	rs17790493;rs52814056;rs17790493	342;342	Q5TB80;C9JFM9	QN1_HUMAN;.	C	266;342	ENSP00000257766:S266C;ENSP00000385215:S342C	ENSP00000257766:S266C	S	-	2	0	KIAA1009	84961323	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.309000	0.72825	2.369000	0.80426	0.557000	0.71058	TCT	G|0.983;C|0.017	0.017	strong		0.284	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84904604	G	C	84904604	3	2	23	1	0	0	0	0	1	0	0	0	8203	942	33	4	3258	4	KIAA1009	6	84904604	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23175	84904604	86210463	1664	18120										
RNGTT	8732	hgsc.bcm.edu	37	chr6	89614521	89614521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatcctcatcctcatcttcGtcttcatcatcctcaaaaca	1	17	7	0	rs139029923		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:89614521G>A	ENST00000369485.4	-	6	783	c.597C>T	c.(595-597)gaC>gaT	p.D199D	RNGTT_ENST00000265607.6_Silent_p.D199D|RNGTT_ENST00000538899.1_Silent_p.D139D|RNGTT_ENST00000369475.3_Silent_p.D199D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	199	Asp/Glu-rich.|TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCTCATCTTCGTCTTCATCAT	0.428																																					p.D199D		Atlas-SNP	.											.	RNGTT	52	.	0			c.C597T						PASS	.	G		0,4406		0,0,2203	108	91	97		597	-10.6	0.9	6	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNGTT	NM_003800.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		199/598	89614521	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8732	exon6			ATCTTCGTCTTCA	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.597C>T	6.37:g.89614521G>A		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	206	103	0.5	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	ENST00000369485.4	37	CCDS5017.1																																																																																			G|1.000;A|0.000	0.000	weak		0.428	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			A	89614521	G	A	89614521	2	1	23	1	0	0	0	0	0	0	0	1	13503	1136	40	1		1	RNGTT	6	89614521	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4709917	89614521	81500546	1665	18121										
UBE2J1	51465	hgsc.bcm.edu	37	chr6	90047956	90047956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcttctttcctcaggagtGtaatctagagaacctatggc	9	10	4	1	rs35213866	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90047956G>A	ENST00000435041.2	-	5	674	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	132					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCTCAGGAGTGTAATCTAGAG	0.378													G|||	13	0.00259585	0.0015	0.0029	5008	,	,		17857	0.0		0.0089	False		,,,				2504	0.0				p.Y132Y		Atlas-SNP	.											.	UBE2J1	28	.	0			c.C396T						PASS	.	G		9,4397	16.8+/-37.8	0,9,2194	133	135	134		396	1.5	1	6	dbSNP_126	134	80,8520	47.2+/-106.3	0,80,4220	no	coding-synonymous	UBE2J1	NM_016021.2		0,89,6414	AA,AG,GG		0.9302,0.2043,0.6843		132/319	90047956	89,12917	2203	4300	6503	SO:0001819	synonymous_variant	51465	exon5			AGGAGTGTAATCT	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.396C>T	6.37:g.90047956G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	137	52	0.379562	NM_016021	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	37	CCDS5021.1																																																																																			G|0.993;A|0.007	0.007	strong		0.378	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		A	90047956	G	A	90047956	2	1	23	1	0	0	0	0	0	0	0	1	16857	1372	48	2		2	UBE2J1	6	90047956	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	433435	90047956	81067111	1666	18122										
ANKRD6	22881	hgsc.bcm.edu	37	chr6	90340446	90340446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggcatcgtgcccagcaacCcgcagccagcagcacctgtg	11	16	0	0	rs61739327	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90340446C>T	ENST00000522441.1	+	16	2548	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	ANKRD6_ENST00000369408.5_Missense_Mutation_p.P601L|ANKRD6_ENST00000339746.4_Missense_Mutation_p.P636L|ANKRD6_ENST00000520793.1_Missense_Mutation_p.P572L|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.P631L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	636					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCCCAGCAACCCGCAGCCAGC	0.627													C|||	445	0.0888578	0.0053	0.0865	5008	,	,		15655	0.0476		0.1551	False		,,,				2504	0.1779				p.P636L		Atlas-SNP	.											.	ANKRD6	51	.	0			c.C1907T						PASS	.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	102,4106		4,94,2006	26	29	28		1907,1907,1802,1715,1892	1.6	0	6	dbSNP_129	28	1177,7277		93,991,3143	yes	missense,missense,missense,missense,missense	ANKRD6	NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4	98,98,98,98,98	97,1085,5149	TT,TC,CC		13.9224,2.424,10.1011	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	636/728,636/728,601/693,572/664,631/723	90340446	1279,11383	2104	4227	6331	SO:0001583	missense	22881	exon16			AGCAACCCGCAGC	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1907C>T	6.37:g.90340446C>T	ENSP00000430985:p.Pro636Leu	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	48	23	0.479167	NM_001242809	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	165	0.07554945054945054	4	0.008130081300813009	27	0.07458563535911603	25	0.043706293706293704	109	0.1437994722955145	C	7.613	0.675206	0.14841	0.02424	0.139224	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.68331	1.15;1.15;1.16;1.15;-0.32	4.67	1.64	0.23874	.	0.437855	0.19735	N	0.107261	T	0.40522	0.1120	L	0.44542	1.39	0.53688	P	2.5000000000052758E-5	P;P;P;P	0.43477	0.808;0.716;0.554;0.716	B;B;B;B	0.42653	0.348;0.394;0.3;0.394	T	0.18461	-1.0336	9	0.41790	T	0.15	-1.6351	7.7072	0.28657	0.3743:0.5397:0.0:0.0861	rs61739327	572;636;601;631	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	L	601;636;631;636;572	ENSP00000358416:P601L;ENSP00000345767:P636L;ENSP00000396771:P631L;ENSP00000430985:P636L;ENSP00000429782:P572L	ENSP00000345767:P636L	P	+	2	0	ANKRD6	90397167	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.040000	0.30278	0.668000	0.31126	0.563000	0.77884	CCC	C|0.907;T|0.093	0.093	strong		0.627	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90340446	C	T	90340446	3	4	23	1	0	0	0	0	1	0	0	0	685	623	22	2	1950	2	ANKRD6	6	90340446	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	292490	90340446	80774621	1667	18123										
MDN1	23195	hgsc.bcm.edu	37	chr6	90368380	90368380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctctccaccttcttcatcGgcttccttgtctttttcctc	3	16	4	0	rs34732313	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90368380G>A	ENST00000369393.3	-	89	15085	c.14970C>T	c.(14968-14970)gcC>gcT	p.A4990A	MDN1_ENST00000428876.1_Silent_p.A4990A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4990					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTTCTTCATCGGCTTCCTTGT	0.488													G|||	521	0.104034	0.0605	0.085	5008	,	,		20043	0.0476		0.1581	False		,,,				2504	0.1789				p.A4990A		Atlas-SNP	.											.	MDN1	478	.	0			c.C14970T						PASS	.	G		278,4128	153.3+/-186.9	11,256,1936	235	208	217		14970	-2.2	0	6	dbSNP_126	217	1240,7360	248.6+/-276.2	102,1036,3162	no	coding-synonymous	MDN1	NM_014611.1		113,1292,5098	AA,AG,GG		14.4186,6.3096,11.6715		4990/5597	90368380	1518,11488	2203	4300	6503	SO:0001819	synonymous_variant	23195	exon89			TTCATCGGCTTCC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14970C>T	6.37:g.90368380G>A		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	213	96	0.450704	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			G|0.886;A|0.114	0.114	strong		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90368380	G	A	90368380	2	1	23	1	0	0	0	0	0	0	0	1	9415	1103	39	1		1	MDN1	6	90368380	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27934	90368380	80746687	1668	18124										
MDN1	23195	hgsc.bcm.edu	37	chr6	90372574	90372574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctcatcttcctcctcAtcatcatcaccccaaagcct	1	20	6	0	rs36040566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90372574A>C	ENST00000369393.3	-	86	14464	c.14349T>G	c.(14347-14349)gaT>gaG	p.D4783E	MDN1_ENST00000428876.1_Missense_Mutation_p.D4783E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4783			D -> E (in dbSNP:rs36040566).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		cttcctcctcatcATCATCAC	0.458													A|||	445	0.0888578	0.0053	0.085	5008	,	,		19674	0.0476		0.1551	False		,,,				2504	0.1789				p.D4783E		Atlas-SNP	.											.	MDN1	478	.	0			c.T14349G						PASS	.	A	GLU/ASP	124,4282	89.2+/-127.9	5,114,2084	301	254	270		14349	-7	0	6	dbSNP_126	270	1240,7360	248.5+/-276.1	101,1038,3161	yes	missense	MDN1	NM_014611.1	45	106,1152,5245	CC,CA,AA		14.4186,2.8143,10.4875	benign	4783/5597	90372574	1364,11642	2203	4300	6503	SO:0001583	missense	23195	exon86			CTCCTCATCATCA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14349T>G	6.37:g.90372574A>C	ENSP00000358400:p.Asp4783Glu	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	309	150	0.485437	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	164	0.07509157509157509	4	0.008130081300813009	27	0.07458563535911603	24	0.04195804195804196	109	0.1437994722955145	A	9.175	1.022246	0.19433	0.028143	0.144186	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	4.53	-6.99	0.01605	.	0.354569	0.28214	N	0.016166	T	0.00328	0.0010	N	0.04335	-0.225	0.51767	P	6.799999999995698E-5	B	0.09022	0.002	B	0.09377	0.004	T	0.42832	-0.9428	9	0.08381	T	0.77	.	1.0429	0.01563	0.229:0.2875:0.2771:0.2064	rs36040566	4783	Q9NU22	MDN1_HUMAN	E	4783	ENSP00000358400:D4783E;ENSP00000413970:D4783E	ENSP00000358400:D4783E	D	-	3	2	MDN1	90429295	0.000000	0.05858	0.007000	0.13788	0.866000	0.49608	-2.338000	0.01103	-0.797000	0.04450	-0.250000	0.11733	GAT	A|0.909;C|0.091	0.091	strong		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90372574	A	C	90372574	3	2	23	1	0	0	0	0	1	0	0	0	9415	214	8	5	2509	5	MDN1	6	90372574	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4194	90372574	80742493	1669	18125										
MDN1	23195	hgsc.bcm.edu	37	chr6	90397132	90397132	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgtttccgcaaagacaaaGctcgacttgcattttcctcc	7	12	0	1	rs34766278	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90397132G>C	ENST00000369393.3	-	68	11496	c.11381C>G	c.(11380-11382)gCt>gGt	p.A3794G	MDN1_ENST00000428876.1_Missense_Mutation_p.A3794G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3794			A -> G (in dbSNP:rs34766278).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGACAAAGCTCGACTTGC	0.393													g|||	521	0.104034	0.0613	0.085	5008	,	,		19927	0.0486		0.1551	False		,,,				2504	0.18				p.A3794G		Atlas-SNP	.											.	MDN1	478	.	0			c.C11381G						PASS	.	A	GLY/ALA	279,4127	153.7+/-187.2	11,257,1935	103	92	96		11381	3.4	0	6	dbSNP_126	96	1241,7359	248.5+/-276.1	102,1037,3161	yes	missense	MDN1	NM_014611.1	60	113,1294,5096	CC,CG,GG		14.4302,6.3323,11.6869	possibly-damaging	3794/5597	90397132	1520,11486	2203	4300	6503	SO:0001583	missense	23195	exon68			GACAAAGCTCGAC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11381C>G	6.37:g.90397132G>C	ENSP00000358400:p.Ala3794Gly	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	81	38	0.469136	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	188	0.08608058608058608	28	0.056910569105691054	27	0.07458563535911603	24	0.04195804195804196	109	0.1437994722955145	g	4.930	0.172802	0.09391	0.063323	0.144302	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03301	3.98;3.98	6.07	3.36	0.38483	.	0.715195	0.13782	N	0.363178	T	0.00784	0.0026	N	0.19112	0.55	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.48328	-0.9045	9	0.23302	T	0.38	.	4.6655	0.12664	0.1292:0.1219:0.6224:0.1266	rs34766278	3794	Q9NU22	MDN1_HUMAN	G	3794	ENSP00000358400:A3794G;ENSP00000413970:A3794G	ENSP00000358400:A3794G	A	-	2	0	MDN1	90453853	0.981000	0.34729	0.039000	0.18376	0.075000	0.17131	4.792000	0.62467	0.455000	0.26910	-0.119000	0.15052	GCT	G|0.889;C|0.111	0.111	strong		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90397132	G	C	90397132	3	2	23	1	0	0	0	0	1	0	0	0	9415	971	34	4	5549	4	MDN1	6	90397132	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24558	90397132	80717935	1670	18126										
MDN1	23195	hgsc.bcm.edu	37	chr6	90408589	90408589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttagaccaacaaaccttcaAtgtggagtccaaaacagact	6	10	1	2	rs3736984	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90408589A>G	ENST00000369393.3	-	59	9278	c.9163T>C	c.(9163-9165)Ttg>Ctg	p.L3055L	MDN1_ENST00000428876.1_Silent_p.L3055L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3055					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAACCTTCAATGTGGAGTCC	0.408													A|||	770	0.153754	0.0779	0.1225	5008	,	,		16357	0.0813		0.1869	False		,,,				2504	0.319				p.L3055L		Atlas-SNP	.											.	MDN1	478	.	0			c.T9163C						PASS	.	A		384,4022	191.6+/-217.2	22,340,1841	100	105	103		9163	-4.8	0	6	dbSNP_107	103	1547,7053	290.7+/-299.9	156,1235,2909	no	coding-synonymous	MDN1	NM_014611.1		178,1575,4750	GG,GA,AA		17.9884,8.7154,14.847		3055/5597	90408589	1931,11075	2203	4300	6503	SO:0001819	synonymous_variant	23195	exon59			CCTTCAATGTGGA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9163T>C	6.37:g.90408589A>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	68	28	0.411765	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			A|0.865;G|0.135	0.135	strong		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90408589	A	G	90408589	2	3	23	1	0	0	0	0	0	0	0	1	9415	98	4	2		2	MDN1	6	90408589	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11457	90408589	80706478	1671	18127										
MDN1	23195	hgsc.bcm.edu	37	chr6	90499502	90499502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctgagatgacataccacGtctaagggggcatagtcaat	10	9	2	2	rs1036853	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90499502G>A	ENST00000369393.3	-	7	1342	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	MDN1_ENST00000428876.1_Silent_p.D409D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	409					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACATACCACGTCTAAGGGGG	0.433													G|||	453	0.0904553	0.0053	0.0922	5008	,	,		18907	0.0496		0.1581	False		,,,				2504	0.1769				p.D409D		Atlas-SNP	.											.	MDN1	478	.	0			c.C1227T						PASS	.	G		127,4279	91.1+/-129.8	5,117,2081	73	78	76		1227	-6.9	0.9	6	dbSNP_86	76	1243,7357	248.7+/-276.3	102,1039,3159	no	coding-synonymous	MDN1	NM_014611.1		107,1156,5240	AA,AG,GG		14.4535,2.8824,10.5336		409/5597	90499502	1370,11636	2203	4300	6503	SO:0001819	synonymous_variant	23195	exon7			TACCACGTCTAAG	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1227C>T	6.37:g.90499502G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	116	115	0.991379	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			G|0.905;A|0.095	0.095	strong		0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90499502	G	A	90499502	2	1	23	1	0	0	0	0	0	0	0	1	9415	1136	40	1		1	MDN1	6	90499502	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	90913	90499502	80615565	1672	18128										
MDN1	23195	hgsc.bcm.edu	37	chr6	90500067	90500067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcagacagactcaaccagCacataagacctaagggccag	9	12	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90500067C>T	ENST00000369393.3	-	6	1024	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MDN1_ENST00000428876.1_Silent_p.V303V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	303					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTCAACCAGCACATAAGACC	0.478																																					p.V303V		Atlas-SNP	.											.	MDN1	478	.	0			c.G909A						PASS	.						164	169	167					6																	90500067		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon6			AACCAGCACATAA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.909G>A	6.37:g.90500067C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	130	6	0.0461538	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			.	.	none		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90500067	C	T	90500067	2	4	23	1	0	0	0	0	0	0	0	1	9415	697	25	2		2	MDN1	6	90500067	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	565	90500067	80615000	1673	18129										
BACH2	60468	hgsc.bcm.edu	37	chr6	90642358	90642358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctccaagcagcagggcacGttttcccccactgcgcattg	11	15	0	0	rs3798789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:90642358G>A	ENST00000257749.4	-	9	3002	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	BACH2_ENST00000343122.3_Silent_p.N765N|BACH2_ENST00000537989.1_Silent_p.N765N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	765						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGCAGGGCACGTTTTCCCCCA	0.637													A|||	518	0.103435	0.152	0.0692	5008	,	,		16614	0.0704		0.1074	False		,,,				2504	0.092				p.N765N		Atlas-SNP	.											.	BACH2	224	.	0			c.C2295T						PASS	.	A	,	593,3813	769.3+/-413.7	42,509,1652	42	44	44		2295,2295	-5	0	6	dbSNP_107	44	1029,7571	770.4+/-407.7	51,927,3322	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	93,1436,4974	AA,AG,GG		11.9651,13.4589,12.4712	,	765/842,765/842	90642358	1622,11384	2203	4300	6503	SO:0001819	synonymous_variant	60468	exon7			GGGCACGTTTTCC	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2295C>T	6.37:g.90642358G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_001170794	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																			G|0.877;A|0.123	0.123	strong		0.637	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90642358	G	A	90642358	2	1	23	1	0	0	0	0	0	0	0	1	1284	1136	40	1		1	BACH2	6	90642358	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	142291	90642358	80472709	1674	18130										
MANEA	79694	hgsc.bcm.edu	37	chr6	96053922	96053922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgggctagcctaaaattaTtttgtgataaatacaactta	6	5	0	1	rs35772543	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:96053922T>A	ENST00000358812.4	+	5	1164	c.1030T>A	c.(1030-1032)Ttt>Att	p.F344I		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	344	Catalytic. {ECO:0000305}.			F -> I (in Ref. 2; AAQ75077, 3; BAB14298 and 4; CAE45927). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CCTAAAATTATTTTGTGATAA	0.378													T|||	226	0.0451278	0.0038	0.0605	5008	,	,		18638	0.0595		0.0765	False		,,,				2504	0.0429				p.F344I		Atlas-SNP	.											.	MANEA	58	.	0			c.T1030A						PASS	.	T	ILE/PHE	84,4322	68.1+/-105.8	2,80,2121	59	64	62		1030	6.2	0.9	6	dbSNP_126	62	740,7858	177.2+/-226.9	39,662,3598	yes	missense	MANEA	NM_024641.3	21	41,742,5719	AA,AT,TT		8.6067,1.9065,6.3365	probably-damaging	344/463	96053922	824,12180	2203	4299	6502	SO:0001583	missense	79694	exon5			AAATTATTTTGTG	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1030T>A	6.37:g.96053922T>A	ENSP00000351669:p.Phe344Ile	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_024641	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	136	0.06227106227106227	2	0.0040650406504065045	29	0.08011049723756906	37	0.06468531468531469	68	0.08970976253298153	T	29.1	4.981294	0.93044	0.019065	0.086067	ENSG00000172469	ENST00000358812	D	0.92647	-3.08	6.17	6.17	0.99709	.	0.086298	0.85682	N	0.000000	D	0.95990	0.8694	M	0.86740	2.835	0.09310	P	0.9999999800898	D	0.89917	1.0	D	0.87578	0.998	D	0.95687	0.8737	9	0.46703	T	0.11	-24.0744	16.0034	0.80327	0.0:0.0:0.0:1.0	rs35772543	344	Q5SRI9	MANEA_HUMAN	I	344	ENSP00000351669:F344I	ENSP00000351669:F344I	F	+	1	0	MANEA	96160643	1.000000	0.71417	0.915000	0.36163	0.910000	0.53928	7.603000	0.82811	2.371000	0.80710	0.533000	0.62120	TTT	T|0.936;A|0.064	0.064	strong		0.378	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		A	96053922	T	A	96053922	3	1	23	1	0	0	0	0	1	0	0	0	9221	1493	52	5	1044	5	MANEA	6	96053922	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5411564	96053922	75061145	1675	18131										
GPR63	81491	hgsc.bcm.edu	37	chr6	97247547	97247547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgtaggtgttttcatacaCgacaaatgttgtgttggatg	11	5	1	0	rs35358396	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:97247547C>T	ENST00000229955.3	-	2	406	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	GPR63_ENST00000417980.1_Missense_Mutation_p.V21M	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	21			V -> M (in dbSNP:rs35358396).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TTTTCATACACGACAAATGTT	0.468													C|||	73	0.0145767	0.0008	0.0259	5008	,	,		21414	0.0		0.0477	False		,,,				2504	0.0061				p.V21M		Atlas-SNP	.											GPR63,right_upper_lobe,carcinoma,+2,1	GPR63	60	1	0			c.G61A						PASS	.	C	MET/VAL,MET/VAL	27,4379	33.5+/-64.1	0,27,2176	133	120	125		61,61	1.3	0.3	6	dbSNP_126	125	365,8235	121.0+/-180.1	11,343,3946	yes	missense,missense	GPR63	NM_001143957.1,NM_030784.2	21,21	11,370,6122	TT,TC,CC		4.2442,0.6128,3.014	benign,benign	21/420,21/420	97247547	392,12614	2203	4300	6503	SO:0001583	missense	81491	exon2			CATACACGACAAA	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.61G>A	6.37:g.97247547C>T	ENSP00000229955:p.Val21Met	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	112	65	0.580357	NM_030784	Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	42	0.019230769230769232	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	32	0.04221635883905013	C	1.757	-0.487707	0.04352	0.006128	0.042442	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.62364	0.03;0.03;0.03	5.15	1.33	0.21861	.	0.581476	0.14187	N	0.335586	T	0.16342	0.0393	N	0.14661	0.345	0.19575	N	0.999963	P	0.47910	0.902	B	0.30495	0.116	T	0.04178	-1.0971	10	0.54805	T	0.06	3.6865	6.7606	0.23538	0.0:0.5476:0.1141:0.3383	rs35358396	21	Q9BZJ6	GPR63_HUMAN	M	45;21;21;21	ENSP00000393170:V21M;ENSP00000229955:V21M;ENSP00000358273:V21M	ENSP00000229955:V21M	V	-	1	0	GPR63	97354268	0.038000	0.19896	0.342000	0.25602	0.015000	0.08874	0.083000	0.14871	0.290000	0.22444	-0.769000	0.03391	GTG	C|0.974;T|0.026	0.026	strong		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			T	97247547	C	T	97247547	3	4	23	1	0	0	0	0	1	0	0	0	6704	536	19	1	1202	1	GPR63	6	97247547	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1193625	97247547	73867520	1676	18132										
FBXL4	26235	hgsc.bcm.edu	37	chr6	99374400	99374400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaggatttgcagaacaagcGagaattctaatgactgctcc	9	8	1	3	rs1011676	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:99374400G>A	ENST00000369244.2	-	4	893	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FBXL4_ENST00000229971.1_Silent_p.L155L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	155					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CAGAACAAGCGAGAATTCTAA	0.393													G|||	162	0.0323482	0.0023	0.0389	5008	,	,		19465	0.0		0.0636	False		,,,				2504	0.0695				p.L155L		Atlas-SNP	.											.	FBXL4	54	.	0			c.C465T						PASS	.	G		81,4325	69.8+/-107.6	1,79,2123	93	89	90		465	-0.9	1	6	dbSNP_86	90	700,7900	172.3+/-223.0	43,614,3643	no	coding-synonymous	FBXL4	NM_012160.3		44,693,5766	AA,AG,GG		8.1395,1.8384,6.0049		155/622	99374400	781,12225	2203	4300	6503	SO:0001819	synonymous_variant	26235	exon3			ACAAGCGAGAATT	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.465C>T	6.37:g.99374400G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	137	54	0.394161	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	CCDS5041.1																																																																																			G|0.955;A|0.045	0.045	strong		0.393	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			A	99374400	G	A	99374400	2	1	23	1	0	0	0	0	0	0	0	1	5721	1045	37	1		1	FBXL4	6	99374400	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2126853	99374400	71740667	1677	18133										
COQ3	51805	hgsc.bcm.edu	37	chr6	99825348	99825348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtgattaggaattgtttTcagaagattgtccctttttt	9	5	1	3	rs11548336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:99825348T>C	ENST00000254759.3	-	4	424	c.400A>G	c.(400-402)Aaa>Gaa	p.K134E	COQ3_ENST00000369240.1_5'Flank|COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	134			K -> E (in dbSNP:rs11548336). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GGAATTGTTTTCAGAAGATTG	0.348													T|||	1594	0.318291	0.2428	0.2017	5008	,	,		12394	0.496		0.3151	False		,,,				2504	0.3231				p.K134E		Atlas-SNP	.											.	COQ3	19	.	0			c.A400G						PASS	.	T	GLU/LYS	1205,3201	401.9+/-332.2	174,857,1172	76	67	70		400	5.6	1	6	dbSNP_120	70	2586,6014	400.1+/-346.7	406,1774,2120	yes	missense	COQ3	NM_017421.3	56	580,2631,3292	CC,CT,TT		30.0698,27.3491,29.1481	benign	134/370	99825348	3791,9215	2203	4300	6503	SO:0001583	missense	51805	exon4			TTGTTTTCAGAAG	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.400A>G	6.37:g.99825348T>C	ENSP00000254759:p.Lys134Glu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	49	23	0.469388	NM_017421	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	CCDS5042.1	704	0.32234432234432236	122	0.24796747967479674	79	0.21823204419889503	253	0.4423076923076923	250	0.32981530343007914	T	15.33	2.802452	0.50315	0.273491	0.300698	ENSG00000132423	ENST00000254759	T	0.13420	2.59	5.61	5.61	0.85477	.	0.196194	0.51477	D	0.000085	T	0.04137	0.0115	N	0.21617	0.685	0.09310	P	1.0	B	0.21821	0.061	B	0.20184	0.028	T	0.34925	-0.9809	9	0.22109	T	0.4	-30.8554	14.3797	0.66902	0.0:0.0:0.0:1.0	rs11548336;rs17355554;rs45447894;rs58257605	134	Q9NZJ6	COQ3_HUMAN	E	134	ENSP00000254759:K134E	ENSP00000254759:K134E	K	-	1	0	COQ3	99932069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.681000	0.74523	2.147000	0.66899	0.477000	0.44152	AAA	T|0.701;C|0.299	0.299	strong		0.348	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		C	99825348	T	C	99825348	3	2	23	1	0	0	0	0	1	0	0	0	3746	1792	62	2	725	2	COQ3	6	99825348	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	450948	99825348	71289719	1678	18134										
USP45	85015	hgsc.bcm.edu	37	chr6	99883694	99883694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaacatggacccactggccTgctgattcattatcagccgc	8	14	2	1	rs9402791	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:99883694T>C	ENST00000327681.6	-	18	2875	c.2343A>G	c.(2341-2343)gcA>gcG	p.A781A	USP45_ENST00000539675.1_Silent_p.A74A|USP45_ENST00000500704.2_Silent_p.A781A|USP45_ENST00000369233.2_Silent_p.A733A|USP45_ENST00000392738.2_Silent_p.A461A	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	781	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A781A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCCACTGGCCTGCTGATTCAT	0.363													T|||	1462	0.291933	0.112	0.3184	5008	,	,		14521	0.503		0.2207	False		,,,				2504	0.3722				p.A781A		Atlas-SNP	.											USP45,NS,carcinoma,0,1	USP45	56	1	1	Substitution - coding silent(1)	stomach(1)	c.A2343G						PASS	.	T		582,3824	256.4+/-261.2	29,524,1650	111	111	111		2343	1.7	0.8	6	dbSNP_119	111	1625,6975	301.7+/-305.6	147,1331,2822	no	coding-synonymous	USP45	NM_001080481.1		176,1855,4472	CC,CT,TT		18.8953,13.2093,16.9691		781/815	99883694	2207,10799	2203	4300	6503	SO:0001819	synonymous_variant	85015	exon18			CTGGCCTGCTGAT	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2343A>G	6.37:g.99883694T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																			T|0.786;C|0.214	0.214	strong		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99883694	T	C	99883694	2	2	23	1	0	0	0	0	0	0	0	1	17073	1567	55	3		3	USP45	6	99883694	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	58346	99883694	71231373	1679	18135										
ASCC3	10973	hgsc.bcm.edu	37	chr6	101094554	101094554	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaggacagtccttgtgatAggctgaatggatgcttccat	13	8	0	2	rs239239	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:101094554A>G	ENST00000369162.2	-	22	3914	c.3570T>C	c.(3568-3570)ccT>ccC	p.P1190P		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1190	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)		TCCTTGTGATAGGCTGAATGG	0.403													G|||	2861	0.571286	0.6006	0.6153	5008	,	,		17369	0.7302		0.5408	False		,,,				2504	0.3681				p.P1190P		Atlas-SNP	.											.	ASCC3	205	.	0			c.T3570C						PASS	.	G		2602,1804	530.4+/-372.9	766,1070,367	130	112	118		3570	2.6	1	6	dbSNP_79	118	4540,4060	558.4+/-387.2	1210,2120,970	no	coding-synonymous	ASCC3	NM_006828.2		1976,3190,1337	GG,GA,AA		47.2093,40.9442,45.0869		1190/2203	101094554	7142,5864	2203	4300	6503	SO:0001819	synonymous_variant	10973	exon22			TGTGATAGGCTGA	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.3570T>C	6.37:g.101094554A>G		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	199	72	0.361809	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	CCDS5046.1																																																																																			A|0.438;G|0.562	0.562	strong		0.403	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		G	101094554	A	G	101094554	2	3	23	1	0	0	0	0	0	0	0	1	1033	407	15	3		3	ASCC3	6	101094554	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1210860	101094554	70020513	1680	18136										
ASCC3	10973	hgsc.bcm.edu	37	chr6	101296389	101296389	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctgcacaagagcagtaaGatcatcttgactaaaatgag	8	8	3	4	rs9390698	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:101296389G>A	ENST00000369162.2	-	4	780	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	ASCC3_ENST00000522650.1_Missense_Mutation_p.L146F	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	146			L -> F (in dbSNP:rs9390698). {ECO:0000269|PubMed:17974005}.		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)	p.L146F(1)		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)		AGAGCAGTAAGATCATCTTGA	0.368													G|||	1229	0.245407	0.0628	0.415	5008	,	,		20467	0.2331		0.4493	False		,,,				2504	0.1748				p.L146F		Atlas-SNP	.											ASCC3,NS,carcinoma,0,1	ASCC3	205	1	1	Substitution - Missense(1)	stomach(1)	c.C436T						PASS	.	G	PHE/LEU	638,3768	272.2+/-270.6	53,532,1618	64	57	59		436	5	1	6	dbSNP_119	59	3920,4680	545.3+/-384.8	913,2094,1293	yes	missense	ASCC3	NM_006828.2	22	966,2626,2911	AA,AG,GG		45.5814,14.4803,35.0454	possibly-damaging	146/2203	101296389	4558,8448	2203	4300	6503	SO:0001583	missense	10973	exon4			CAGTAAGATCATC	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.436C>T	6.37:g.101296389G>A	ENSP00000358159:p.Leu146Phe	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	153	63	0.411765	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	666	0.30494505494505497	36	0.07317073170731707	131	0.36187845303867405	153	0.2674825174825175	346	0.45646437994722955	G	13.66	2.302375	0.40694	0.144803	0.455814	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723	T;T;T	0.59224	0.37;0.28;0.7	5.85	4.97	0.65823	.	0.069655	0.64402	D	0.000013	T	0.42337	0.1198	L	0.59436	1.845	0.09310	P	1.0	B;B;B	0.19583	0.037;0.037;0.001	B;B;B	0.17433	0.018;0.018;0.004	T	0.46345	-0.9198	9	0.51188	T	0.08	.	16.8624	0.86021	0.0:0.1284:0.8715:0.0	rs9390698;rs17616305;rs52799794;rs9390698	146;146;146	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	F	146	ENSP00000358159:L146F;ENSP00000430769:L146F;ENSP00000320777:L146F	ENSP00000320777:L146F	L	-	1	0	ASCC3	101403110	0.999000	0.42202	0.987000	0.45799	0.995000	0.86356	2.523000	0.45580	1.438000	0.47492	0.655000	0.94253	CTT	G|0.688;A|0.312	0.312	strong		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101296389	G	A	101296389	3	1	23	1	0	0	0	0	1	0	0	0	1033	942	33	2	6328	2	ASCC3	6	101296389	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	201835	101296389	69818678	1681	18137										
HACE1	57531	hgsc.bcm.edu	37	chr6	105198267	105198267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggtggaatgaacatatgAaagccctgtaaaaaagcatt	11	5	0	2	rs7752614	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:105198267A>G	ENST00000262903.4	-	20	2568	c.2292T>C	c.(2290-2292)ttT>ttC	p.F764F	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Silent_p.F549F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	764	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGAACATATGAAAGCCCTGTA	0.383													A|||	871	0.173922	0.3699	0.1398	5008	,	,		15848	0.003		0.1481	False		,,,				2504	0.136				p.F764F		Atlas-SNP	.											HACE1,NS,adenoma,0,1	HACE1	96	1	0			c.T2292C						scavenged	.	A		1549,2857	484.8+/-360.1	263,1023,917	111	105	107		2292	2.5	1	6	dbSNP_116	107	1403,7197	268.5+/-287.9	114,1175,3011	no	coding-synonymous	HACE1	NM_020771.3		377,2198,3928	GG,GA,AA		16.314,35.1566,22.6972		764/910	105198267	2952,10054	2203	4300	6503	SO:0001819	synonymous_variant	57531	exon20			CATATGAAAGCCC	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2292T>C	6.37:g.105198267A>G		Somatic	202	2	0.00990099		WXS	Illumina HiSeq	Phase_I	178	78	0.438202	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1																																																																																			A|0.805;G|0.195	0.195	strong		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		G	105198267	A	G	105198267	2	3	23	1	0	0	0	0	0	0	0	1	6940	243	9	2		2	HACE1	6	105198267	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3901878	105198267	65916800	1682	18138										
AIM1	202	hgsc.bcm.edu	37	chr6	106967185	106967185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacactgacattcgaggccAaaggaatactcctgcctcta	7	13	1	1	rs1159148	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:106967185A>C	ENST00000369066.3	+	2	1365	c.878A>C	c.(877-879)cAa>cCa	p.Q293P		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)		ATTCGAGGCCAAAGGAATACT	0.428													C|||	1034	0.20647	0.1974	0.1945	5008	,	,		19009	0.0536		0.2366	False		,,,				2504	0.3538				p.Q293P		Atlas-SNP	.											.	AIM1	161	.	0			c.A878C						PASS	.	C	PRO/GLN	925,3481	733.5+/-410.5	84,757,1362	55	55	55		878	2.6	0	6	dbSNP_87	55	2232,6368	704.2+/-405.4	297,1638,2365	yes	missense	AIM1	NM_001624.2	76	381,2395,3727	CC,CA,AA		25.9535,20.9941,24.2734	benign	293/1724	106967185	3157,9849	2203	4300	6503	SO:0001583	missense	202	exon2			GAGGCCAAAGGAA	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.878A>C	6.37:g.106967185A>C	ENSP00000358062:p.Gln293Pro	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	58	34	0.586207	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	373	0.1707875457875458	98	0.1991869918699187	73	0.20165745856353592	27	0.0472027972027972	175	0.23087071240105542	C	2.681	-0.275346	0.05679	0.209941	0.259535	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71103	-0.54	5.73	2.58	0.30949	.	1.852350	0.03052	N	0.154645	T	0.22820	0.0551	N	0.02011	-0.69	0.53688	P	2.6999999999999247E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.03184	-1.1063	9	0.25106	T	0.35	.	8.426	0.32729	0.1137:0.6849:0.0:0.2014	rs1159148;rs17495353;rs56550327;rs58077185;rs1159148	293	Q9Y4K1	AIM1_HUMAN	P	701;293	ENSP00000358062:Q293P	ENSP00000285105:Q701P	Q	+	2	0	AIM1	107073878	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	1.127000	0.31357	0.381000	0.24851	-0.121000	0.15023	CAA	A|0.787;C|0.213	0.213	strong		0.428	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			C	106967185	A	C	106967185	3	2	23	1	0	0	0	0	1	0	0	0	430	130	5	5	884	5	AIM1	6	106967185	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1768918	106967185	64147882	1683	18139										
AIM1	202	hgsc.bcm.edu	37	chr6	106999822	106999822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggactggggaggcaaaaattGtaagatctcttctgttcaac	11	7	3	1	rs2297970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:106999822G>A	ENST00000369066.3	+	12	4671	c.4184G>A	c.(4183-4185)tGt>tAt	p.C1395Y	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.C214Y	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)		p.C1395Y(1)		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)		GGCAAAAATTGTAAGATCTCT	0.353													G|||	997	0.199081	0.121	0.1988	5008	,	,		15007	0.0565		0.2873	False		,,,				2504	0.3609				p.C1395Y		Atlas-SNP	.											AIM1,NS,carcinoma,0,1	AIM1	161	1	1	Substitution - Missense(1)	stomach(1)	c.G4184A						PASS	.	G	TYR/CYS	658,3748	276.0+/-272.9	44,570,1589	93	102	99		4184	5	1	6	dbSNP_100	99	2629,5969	421.7+/-353.8	418,1793,2088	yes	missense	AIM1	NM_001624.2	194	462,2363,3677	AA,AG,GG		30.5769,14.9342,25.2768	benign	1395/1724	106999822	3287,9717	2203	4299	6502	SO:0001583	missense	202	exon12			AAAATTGTAAGAT	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.4184G>A	6.37:g.106999822G>A	ENSP00000358062:p.Cys1395Tyr	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	128	46	0.359375	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	395	0.18086080586080586	65	0.13211382113821138	76	0.20994475138121546	29	0.050699300699300696	225	0.29683377308707126	G	10.73	1.432797	0.25813	0.149342	0.305769	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.75589	-0.95;-0.95;-0.95	5.9	5.03	0.67393	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.376576	0.37483	N	0.002062	T	0.49167	0.1541	N	0.17723	0.515	0.30327	P	0.7869889999999999	B;B	0.30793	0.137;0.295	B;B	0.41374	0.115;0.355	T	0.52320	-0.8591	9	0.34782	T	0.22	.	8.4927	0.33110	0.0702:0.0:0.6658:0.264	rs2297970;rs17562712;rs2297970	214;1395	B4DU04;Q9Y4K1	.;AIM1_HUMAN	Y	1395;214;214	ENSP00000358062:C1395Y;ENSP00000391419:C214Y;ENSP00000439183:C214Y	ENSP00000358062:C1395Y	C	+	2	0	AIM1	107106515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.941000	0.29005	1.489000	0.48450	0.563000	0.77884	TGT	G|0.768;A|0.232	0.232	strong		0.353	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			A	106999822	G	A	106999822	3	1	23	1	0	0	0	0	1	0	0	0	430	1377	48	2	4230	2	AIM1	6	106999822	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32637	106999822	64115245	1684	18140										
QRSL1	55278	hgsc.bcm.edu	37	chr6	107113715	107113715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagggttgccaataggactGcagtttattggacgtgcgtt	13	7	0	0	rs2015205	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:107113715G>A	ENST00000369046.4	+	11	1529	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CAATAGGACTGCAGTTTATTG	0.438													G|||	1671	0.333666	0.3109	0.402	5008	,	,		18184	0.1617		0.4642	False		,,,				2504	0.3589				p.L475L	NSCLC(192;2127 2142 11668 26277 49545)	Atlas-SNP	.											.	QRSL1	30	.	0			c.G1425A						PASS	.	G		1583,2823	493.8+/-362.8	275,1033,895	79	73	75		1425	0.8	1	6	dbSNP_92	75	4274,4326	574.0+/-390.0	1113,2048,1139	no	coding-synonymous	QRSL1	NM_018292.4		1388,3081,2034	AA,AG,GG		49.6977,35.9283,45.0331		475/529	107113715	5857,7149	2203	4300	6503	SO:0001819	synonymous_variant	55278	exon11			AGGACTGCAGTTT	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1425G>A	6.37:g.107113715G>A		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	180	177	0.983333	NM_018292		Silent	SNP	ENST00000369046.4	37	CCDS5057.1																																																																																			G|0.595;A|0.405	0.405	strong		0.438	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		A	107113715	G	A	107113715	2	1	23	1	0	0	0	0	0	0	0	1	12881	1306	46	2		2	QRSL1	6	107113715	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113893	107113715	64001352	1685	18141										
BEND3	57673	hgsc.bcm.edu	37	chr6	107391213	107391213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaactcagtgaggtcctgCgtgtccaccacgtggtctga	13	11	2	2	rs3814072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:107391213C>T	ENST00000369042.1	-	4	1372	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	BEND3_ENST00000429433.2_Silent_p.T394T			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	394	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAGGTCCTGCGTGTCCACCA	0.632													c|||	344	0.0686901	0.0598	0.0764	5008	,	,		18142	0.0585		0.0934	False		,,,				2504	0.0603				p.T394T		Atlas-SNP	.											.	BEND3	70	.	0			c.G1182A						PASS	.	C		322,4084	170.9+/-201.2	11,300,1892	72	72	72		1182	-1.3	1	6	dbSNP_107	72	719,7881	176.0+/-226.0	32,655,3613	no	coding-synonymous	BEND3	NM_001080450.2		43,955,5505	TT,TC,CC		8.3605,7.3082,8.004		394/829	107391213	1041,11965	2203	4300	6503	SO:0001819	synonymous_variant	57673	exon5			GTCCTGCGTGTCC	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1182G>A	6.37:g.107391213C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	127	73	0.574803	NM_001080450	A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	CCDS34507.1																																																																																			C|0.925;T|0.075	0.075	strong		0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		T	107391213	C	T	107391213	2	4	23	1	0	0	0	0	0	0	0	1	1399	755	27	1		1	BEND3	6	107391213	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	277498	107391213	63723854	1686	18142										
SCML4	256380	hgsc.bcm.edu	37	chr6	108029109	108029109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtgaggccccagagcctgTgggtcggcgtccttcacaaa	13	13	1	2	rs3734754	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:108029109T>C	ENST00000369020.3	-	7	1325	c.1080A>G	c.(1078-1080)ccA>ccG	p.P360P	SCML4_ENST00000369022.2_Silent_p.P302P|SCML4_ENST00000369025.2_Silent_p.P118P	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CCAGAGCCTGTGGGTCGGCGT	0.632													C|||	1125	0.224641	0.1778	0.1354	5008	,	,		18716	0.369		0.1978	False		,,,				2504	0.2301				p.P360P		Atlas-SNP	.											SCML4_ENST00000369020,colon,carcinoma,0,1	SCML4	65	1	0			c.A1080G						scavenged	.	C		272,1112		23,226,443	48	57	54		1080	-8.3	0.3	6	dbSNP_107	54	573,2609		54,465,1072	no	coding-synonymous	SCML4	NM_198081.3		77,691,1515	CC,CT,TT		18.0075,19.6532,18.5064		360/415	108029109	845,3721	692	1591	2283	SO:0001819	synonymous_variant	256380	exon7			AGCCTGTGGGTCG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.1080A>G	6.37:g.108029109T>C		Somatic	171	3	0.0175439		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			T|0.784;C|0.216	0.216	strong		0.632	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		C	108029109	T	C	108029109	2	2	23	1	0	0	0	0	0	0	0	1	13911	1683	59	2		2	SCML4	6	108029109	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	637896	108029109	63085958	1687	18143										
MICAL1	64780	hgsc.bcm.edu	37	chr6	109767396	109767396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgctctccagggcgtggcGggccaaggcggagcagctgc	18	13	1	0	rs199541635		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:109767396G>A	ENST00000358807.3	-	19	2835	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C	MICAL1_ENST00000368952.4_Missense_Mutation_p.R861C|MICAL1_ENST00000358577.3_Missense_Mutation_p.R756C	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	842					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGGGCGTGGCGGGCCAAGGCG	0.667																																					p.R842C		Atlas-SNP	.											MICAL1,NS,carcinoma,+1,1	MICAL1	79	1	0			c.C2524T						scavenged	.	G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	26	30	29		2266,2524	5.6	1	6		29	2,8592		0,2,4295	yes	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	180,180	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	756/982,842/1068	109767396	2,12994	2201	4297	6498	SO:0001583	missense	64780	exon19			CGTGGCGGGCCAA	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2524C>T	6.37:g.109767396G>A	ENSP00000351664:p.Arg842Cys	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	146	3	0.0205479	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229240	0.79688	0.0	2.33E-4	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.52983	0.65;0.65;0.64	5.56	5.56	0.83823	.	0.835193	0.10911	N	0.620566	T	0.41213	0.1149	L	0.40543	1.245	0.48975	D	0.999738	D;D;D	0.71674	0.991;0.998;0.996	B;P;B	0.50049	0.425;0.629;0.425	T	0.35151	-0.9800	10	0.66056	D	0.02	.	15.0246	0.71659	0.0:0.0:1.0:0.0	.	861;756;842	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	C	842;861;756;366;98	ENSP00000351664:R842C;ENSP00000357948:R861C;ENSP00000351385:R756C	ENSP00000335372:R98C	R	-	1	0	MICAL1	109874089	0.984000	0.35163	0.983000	0.44433	0.998000	0.95712	2.215000	0.42862	2.608000	0.88229	0.655000	0.94253	CGC	.	.	weak		0.667	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109767396	G	A	109767396	3	1	23	1	0	0	0	0	1	0	0	0	9569	1116	39	1	707	1	MICAL1	6	109767396	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1738287	109767396	61347671	1688	18144										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110760008	110760008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcctcccgaccttgtccAtggcgatgcacacgaaggtg	10	14	1	0	rs12210538	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:110760008A>G	ENST00000368919.3	-	5	1292	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M409T|SLC22A16_ENST00000330550.4_Missense_Mutation_p.M375T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	409			M -> T (in dbSNP:rs12210538). {ECO:0000269|PubMed:12372408, ECO:0000269|PubMed:12384147, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15963465}.		acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GACCTTGTCCATGGCGATGCA	0.542													A|||	458	0.0914537	0.0121	0.1527	5008	,	,		14934	0.0		0.2445	False		,,,				2504	0.092				p.M409T		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T1226C						PASS	.	A	THR/MET	225,4181	133.7+/-170.0	4,217,1982	152	115	128		1226	5	0	6	dbSNP_120	128	2091,6509	360.9+/-332.1	287,1517,2496	yes	missense	SLC22A16	NM_033125.2	81	291,1734,4478	GG,GA,AA		24.314,5.1067,17.8072	possibly-damaging	409/578	110760008	2316,10690	2203	4300	6503	SO:0001583	missense	85413	exon5			TTGTCCATGGCGA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1226T>C	6.37:g.110760008A>G	ENSP00000357915:p.Met409Thr	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	144	63	0.4375	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	247	0.1130952380952381	9	0.018292682926829267	49	0.13535911602209943	0	0.0	189	0.24934036939313983	A	18.24	3.580325	0.65992	0.051067	0.24314	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.98	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.086812	0.85682	D	0.000000	T	0.76856	0.4046	M	0.70595	2.14	0.09310	P	1.0	D;P	0.53312	0.959;0.949	P;P	0.55749	0.783;0.743	T	0.80448	-0.1378	9	0.52906	T	0.07	.	14.6674	0.68918	1.0:0.0:0.0:0.0	rs12210538;rs17494155;rs12210538	409;375	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	T	409;326;375;409;239	ENSP00000357915:M409T;ENSP00000395642:M326T;ENSP00000328583:M375T;ENSP00000408799:M409T;ENSP00000409306:M239T	ENSP00000328583:M375T	M	-	2	0	SLC22A16	110866701	1.000000	0.71417	0.005000	0.12908	0.006000	0.05464	6.101000	0.71479	1.877000	0.54381	0.519000	0.50382	ATG	A|0.851;G|0.149	0.149	strong		0.542	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110760008	A	G	110760008	3	3	23	1	0	0	0	0	1	0	0	0	14447	217	8	2	523	2	SLC22A16	6	110760008	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	992612	110760008	60355059	1689	18145										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110763875	110763875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagccaccagcagggttccaActgcaaaaaaggaatgcaaa	9	10	0	0	rs723685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:110763875A>G	ENST00000368919.3	-	4	821	c.755T>C	c.(754-756)gTt>gCt	p.V252A	SLC22A16_ENST00000456137.2_3'UTR|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.V252A|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V218A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	252			V -> A (in dbSNP:rs723685).		acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CAGGGTTCCAACTGCAAAAAA	0.498													A|||	441	0.0880591	0.0968	0.1081	5008	,	,		18484	0.0794		0.0944	False		,,,				2504	0.0644				p.V252A		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T755C						PASS	.	A	ALA/VAL	514,3892	236.5+/-248.6	22,470,1711	90	88	89		755	3.7	0.2	6	dbSNP_86	89	758,7842	181.0+/-229.8	33,692,3575	yes	missense	SLC22A16	NM_033125.2	64	55,1162,5286	GG,GA,AA		8.814,11.6659,9.7801	benign	252/578	110763875	1272,11734	2203	4300	6503	SO:0001583	missense	85413	exon4			GTTCCAACTGCAA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.755T>C	6.37:g.110763875A>G	ENSP00000357915:p.Val252Ala	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	180	0.08241758241758242	43	0.08739837398373984	32	0.08839779005524862	39	0.06818181818181818	66	0.0870712401055409	A	9.846	1.192480	0.21954	0.116659	0.08814	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.84	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.841724	0.10529	N	0.664036	T	0.33789	0.0875	L	0.52759	1.655	0.09310	P	1.0	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.003	T	0.15665	-1.0429	9	0.51188	T	0.08	.	10.5063	0.44836	0.9225:0.0:0.0775:0.0	rs723685;rs52815010;rs59277963;rs723685	252;218	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	A	252;169;218;252;82;209	ENSP00000357915:V252A;ENSP00000395642:V169A;ENSP00000328583:V218A;ENSP00000408799:V252A;ENSP00000409306:V82A;ENSP00000416310:V209A	ENSP00000328583:V218A	V	-	2	0	SLC22A16	110870568	0.841000	0.29509	0.161000	0.22692	0.030000	0.12068	4.650000	0.61440	0.695000	0.31675	-0.264000	0.10439	GTT	A|0.905;G|0.095	0.095	strong		0.498	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110763875	A	G	110763875	3	3	23	1	0	0	0	0	1	0	0	0	14447	43	2	2	998	2	SLC22A16	6	110763875	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3867	110763875	60351192	1690	18146										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110763935	110763935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagacttcatgccaatgaatTccatcacatagacaaacccc	5	13	2	3	rs41288594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:110763935T>C	ENST00000368919.3	-	4	761	c.695A>G	c.(694-696)gAa>gGa	p.E232G	SLC22A16_ENST00000456137.2_3'UTR|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.E232G|SLC22A16_ENST00000330550.4_Missense_Mutation_p.E198G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	232					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GCCAATGAATTCCATCACATA	0.428													T|||	33	0.00658946	0.003	0.0144	5008	,	,		19307	0.0		0.0099	False		,,,				2504	0.0092				p.E232G		Atlas-SNP	.											.	SLC22A16	81	.	0			c.A695G						PASS	.	T	GLY/GLU	28,4378	31.7+/-61.6	0,28,2175	71	69	69		695	4.7	0.2	6	dbSNP_127	69	186,8414	80.4+/-143.0	1,184,4115	yes	missense	SLC22A16	NM_033125.2	98	1,212,6290	CC,CT,TT		2.1628,0.6355,1.6454	probably-damaging	232/578	110763935	214,12792	2203	4300	6503	SO:0001583	missense	85413	exon4			ATGAATTCCATCA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.695A>G	6.37:g.110763935T>C	ENSP00000357915:p.Glu232Gly	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	15	0.006868131868131868	4	0.008130081300813009	6	0.016574585635359115	0	0.0	5	0.006596306068601583	T	16.01	3.001806	0.54254	0.006355	0.021628	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	4.74	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.96626	0.9463	10	0.87932	D	0	.	14.2102	0.65759	0.0:0.0:0.0:1.0	rs41288594	232;198	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	G	232;149;198;232;62;189	ENSP00000357915:E232G;ENSP00000395642:E149G;ENSP00000328583:E198G;ENSP00000408799:E232G;ENSP00000409306:E62G;ENSP00000416310:E189G	ENSP00000328583:E198G	E	-	2	0	SLC22A16	110870628	1.000000	0.71417	0.215000	0.23724	0.120000	0.20174	7.301000	0.78850	1.762000	0.52044	0.533000	0.62120	GAA	T|0.985;C|0.015	0.015	strong		0.428	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		C	110763935	T	C	110763935	3	2	23	1	0	0	0	0	1	0	0	0	14447	1783	62	2	1058	2	SLC22A16	6	110763935	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	60	110763935	60351132	1691	18147										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110777962	110777962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgatgtgttctccctcttAttcctgctacaccttgagag	7	13	2	1	rs6907567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:110777962A>G	ENST00000368919.3	-	2	378	c.312T>C	c.(310-312)aaT>aaC	p.N104N	SLC22A16_ENST00000456137.2_Silent_p.N104N|SLC22A16_ENST00000439654.1_Silent_p.N104N|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Silent_p.N70N	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	104					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TCTCCCTCTTATTCCTGCTAC	0.473													G|||	1573	0.314097	0.3888	0.2406	5008	,	,		19928	0.4107		0.2207	False		,,,				2504	0.2618				p.N104N		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T312C						PASS	.	G		1600,2806	663.6+/-401.2	281,1038,884	241	238	239		312	0.3	0	6	dbSNP_116	239	1917,6683	726.4+/-406.6	180,1557,2563	no	coding-synonymous	SLC22A16	NM_033125.2		461,2595,3447	GG,GA,AA		22.2907,36.3141,27.0414		104/578	110777962	3517,9489	2203	4300	6503	SO:0001819	synonymous_variant	85413	exon2			CCTCTTATTCCTG		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.312T>C	6.37:g.110777962A>G		Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	307	135	0.439739	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	CCDS5084.1																																																																																			A|0.716;G|0.284	0.284	strong		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110777962	A	G	110777962	2	3	23	1	0	0	0	0	0	0	0	1	14447	446	16	2		2	SLC22A16	6	110777962	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14027	110777962	60337105	1692	18148										
SLC16A10	117247	hgsc.bcm.edu	37	chr6	111493953	111493953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttgctgcccaatagtcagCgtcttcacagacctatttgg	8	11	3	1	rs33965856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:111493953C>T	ENST00000368851.5	+	2	574	c.399C>T	c.(397-399)agC>agT	p.S133S	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	133					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CAATAGTCAGCGTCTTCACAG	0.468													C|||	150	0.0299521	0.0008	0.0605	5008	,	,		15158	0.002		0.0666	False		,,,				2504	0.0389				p.S133S		Atlas-SNP	.											.	SLC16A10	33	.	0			c.C399T						PASS	.	C		59,4347	56.8+/-93.2	1,57,2145	216	199	205		399	-8.6	0.4	6	dbSNP_126	205	588,8012	156.9+/-210.6	16,556,3728	no	coding-synonymous	SLC16A10	NM_018593.4		17,613,5873	TT,TC,CC		6.8372,1.3391,4.9746		133/516	111493953	647,12359	2203	4300	6503	SO:0001819	synonymous_variant	117247	exon2			AGTCAGCGTCTTC	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.399C>T	6.37:g.111493953C>T		Somatic	311	1	0.00321543		WXS	Illumina HiSeq	Phase_I	332	165	0.496988	NM_018593	B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	CCDS5089.1	70	0.03205128205128205	0	0.0	21	0.058011049723756904	1	0.0017482517482517483	48	0.0633245382585752	C	10.27	1.304606	0.23736	0.013391	0.068372	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-8.6	0.00889	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73151	-0.4073	4	.	.	.	.	20.5759	0.99371	0.0:0.6994:0.0:0.3006	rs33965856;rs33965856	.	.	.	V	19	.	.	A	+	2	0	SLC16A10	111600646	0.239000	0.23836	0.384000	0.26145	0.972000	0.66771	-0.137000	0.10389	-2.098000	0.00850	-0.339000	0.08088	GCG	C|0.952;T|0.048	0.048	strong		0.468	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			T	111493953	C	T	111493953	2	4	23	1	0	0	0	0	0	0	0	1	14403	767	27	1		1	SLC16A10	6	111493953	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	715991	111493953	59621114	1693	18149										
REV3L	5980	hgsc.bcm.edu	37	chr6	111696091	111696091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaattaacagtcttcttaTatacattaggacccttaaaa	5	7	2	1	rs458017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:111696091T>C	ENST00000358835.3	-	14	3921	c.3467A>G	c.(3466-3468)tAt>tGt	p.Y1156C	REV3L_ENST00000435970.1_Missense_Mutation_p.Y1078C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1156C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1156C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1156			Y -> C (in dbSNP:rs458017). {ECO:0000269|PubMed:10660610, ECO:0000269|PubMed:9925914, ECO:0000269|Ref.5}.		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)		AGTCTTCTTATATACATTAGG	0.413								DNA polymerases (catalytic subunits)					T|||	202	0.0403355	0.0401	0.0677	5008	,	,		18281	0.001		0.0646	False		,,,				2504	0.0368				p.Y1156C		Atlas-SNP	.											.	REV3L	386	.	0			c.A3467G						PASS	.	T	CYS/TYR	210,4196	126.1+/-163.2	2,206,1995	100	107	104		3467	-4.5	0	6	dbSNP_80	104	579,8019	154.6+/-208.8	19,541,3739	yes	missense	REV3L	NM_002912.3	194	21,747,5734	CC,CT,TT		6.7341,4.7662,6.0674	benign	1156/3131	111696091	789,12215	2203	4299	6502	SO:0001583	missense	5980	exon13			TTCTTATATACAT	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.3467A>G	6.37:g.111696091T>C	ENSP00000351697:p.Tyr1156Cys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	53	0.53	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	88	0.040293040293040296	17	0.034552845528455285	24	0.06629834254143646	0	0.0	47	0.06200527704485488	T	0.028	-1.355458	0.01256	0.047662	0.067341	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.83;4.83;4.83;4.73	5.73	-4.51	0.03483	Ribonuclease H-like (1);	0.469052	0.24014	N	0.042349	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43877	-0.9364	10	0.33940	T	0.23	.	7.2949	0.26387	0.1038:0.3682:0.0:0.528	rs458017;rs3194480;rs17539609;rs52811215;rs59783785;rs458017	1156	O60673	DPOLZ_HUMAN	C	1156;1156;1156;1078	ENSP00000357792:Y1156C;ENSP00000357795:Y1156C;ENSP00000351697:Y1156C;ENSP00000402003:Y1078C	ENSP00000351697:Y1156C	Y	-	2	0	REV3L	111802784	0.428000	0.25522	0.000000	0.03702	0.003000	0.03518	0.030000	0.13688	-0.810000	0.04375	-1.017000	0.02453	TAT	T|0.948;C|0.052	0.052	strong		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		C	111696091	T	C	111696091	3	2	23	1	0	0	0	0	1	0	0	0	13240	1406	49	2	6005	2	REV3L	6	111696091	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	202138	111696091	59418976	1694	18150										
TRAF3IP2	10758	hgsc.bcm.edu	37	chr6	111913070	111913070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctgccgggatacaggccGctggtgatttgcaagtttca	13	10	1	1	rs13190932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:111913070G>A	ENST00000340026.6	-	3	841	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R74W|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.R74W|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	83	Mediates interaction with TRAF6.		R -> W (in dbSNP:rs13190932).		B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GATACAGGCCGCTGGTGATTT	0.547													G|||	182	0.0363419	0.0295	0.0591	5008	,	,		19031	0.0		0.0676	False		,,,				2504	0.0348				p.R74W		Atlas-SNP	.											.	TRAF3IP2	35	.	0			c.C220T						PASS	.	G	TRP/ARG,TRP/ARG	159,4247	108.6+/-147.0	3,153,2047	88	89	89		220,220	-5.7	0	6	dbSNP_121	89	513,8087	145.9+/-201.5	15,483,3802	yes	missense,missense	TRAF3IP2	NM_001164281.1,NM_147686.2	101,101	18,636,5849	AA,AG,GG		5.9651,3.6087,5.1668	benign,benign	74/565,74/566	111913070	672,12334	2203	4300	6503	SO:0001583	missense	10758	exon2			CAGGCCGCTGGTG	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.247C>T	6.37:g.111913070G>A	ENSP00000345984:p.Arg83Trp	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	197	116	0.588832	NM_147686	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		82	0.037545787545787544	10	0.02032520325203252	21	0.058011049723756904	0	0.0	51	0.06728232189973615	G	6.895	0.534567	0.13188	0.036087	0.059651	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.31769	1.48;1.48;1.48	5.55	-5.66	0.02451	.	1.101480	0.06841	N	0.795720	T	0.05960	0.0155	N	0.14661	0.345	0.20638	N	0.999874	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.45011	-0.9290	10	0.62326	D	0.03	-27.0216	9.5888	0.39532	0.6324:0.1093:0.2582:0.0	rs13190932;rs57477005;rs13190932	83;74;74	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	W	83;74;83;74	ENSP00000357750:R74W;ENSP00000345984:R83W;ENSP00000352889:R74W	ENSP00000345984:R83W	R	-	1	2	TRAF3IP2	112019763	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.970000	0.03810	-1.092000	0.03062	-0.254000	0.11334	CGG	G|0.954;A|0.046	0.046	strong		0.547	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			A	111913070	G	A	111913070	3	1	23	1	0	0	0	0	1	0	0	0	16438	1086	38	1	1509	1	TRAF3IP2	6	111913070	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	216979	111913070	59201997	1695	18151										
LAMA4	3910	hgsc.bcm.edu	37	chr6	112480041	112480041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatagttttacttgtagttcActtttggctccatctatttc	6	8	2	0	rs3752577	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:112480041A>G	ENST00000230538.7	-	14	2107	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Silent_p.S563S|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Silent_p.S563S|LAMA4_ENST00000424408.2_Silent_p.S563S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	570	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTTGTAGTTCACTTTTGGCTC	0.323													A|||	457	0.091254	0.028	0.1225	5008	,	,		17123	0.13		0.1034	False		,,,				2504	0.1022				p.S570S		Atlas-SNP	.											.	LAMA4	227	.	0			c.T1710C						PASS	.	A	,,	195,4211	122.5+/-159.9	5,185,2013	192	168	176		1710,1689,1689	-0.3	0.9	6	dbSNP_107	176	758,7842	181.9+/-230.5	35,688,3577	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	40,873,5590	GG,GA,AA		8.814,4.4258,7.3274	,,	570/1824,563/1817,563/1817	112480041	953,12053	2203	4300	6503	SO:0001819	synonymous_variant	3910	exon14			TAGTTCACTTTTG		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1710T>C	6.37:g.112480041A>G		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	201	106	0.527363	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																			A|0.915;G|0.085	0.085	strong		0.323	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		G	112480041	A	G	112480041	2	3	23	1	0	0	0	0	0	0	0	1	8608	156	6	2		2	LAMA4	6	112480041	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	566971	112480041	58635026	1696	18152										
LAMA4	3910	hgsc.bcm.edu	37	chr6	112512905	112512905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacgttcacacttgaatccGgtggtgttgcgtaagcaatt	10	9	1	1	rs2072021	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:112512905G>A	ENST00000230538.7	-	6	1048	c.651C>T	c.(649-651)acC>acT	p.T217T	LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000389463.4_Silent_p.T217T|LAMA4_ENST00000522006.1_Silent_p.T217T|LAMA4_ENST00000424408.2_Silent_p.T217T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	217	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTTGAATCCGGTGGTGTTGC	0.483													G|||	1587	0.316893	0.6067	0.1816	5008	,	,		18568	0.2619		0.1352	False		,,,				2504	0.2648				p.T217T		Atlas-SNP	.											.	LAMA4	227	.	0			c.C651T						PASS	.	G	,,	2301,2105	602.8+/-390.0	627,1047,529	99	84	89		651,651,651	-11.4	0	6	dbSNP_96	89	1048,7552	222.7+/-259.7	55,938,3307	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	682,1985,3836	AA,AG,GG		12.186,47.7758,25.7497	,,	217/1824,217/1817,217/1817	112512905	3349,9657	2203	4300	6503	SO:0001819	synonymous_variant	3910	exon6			GAATCCGGTGGTG		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.651C>T	6.37:g.112512905G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	151	64	0.423841	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1	601|601	0.2751831501831502|0.2751831501831502	271|271	0.5508130081300813|0.5508130081300813	67|67	0.1850828729281768|0.1850828729281768	164|164	0.2867132867132867|0.2867132867132867	99|99	0.13060686015831136|0.13060686015831136	G|G	6.451|6.451	0.451378|0.451378	0.12223|0.12223	0.522242|0.522242	0.12186|0.12186	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000521732	.|.	.|.	.|.	5.7|5.7	-11.4|-11.4	0.00090|0.00090	.|.	.|.	.|.	.|.	.|.	T|T	0.02494|0.02494	0.0076|0.0076	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999999993|0.9999999999999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.09465|0.09465	-1.0673|-1.0673	3|3	.|.	.|.	.|.	.|.	1.8339|1.8339	0.03135|0.03135	0.468:0.1904:0.075:0.2666|0.468:0.1904:0.075:0.2666	rs2072021;rs59269192;rs2072021|rs2072021;rs59269192;rs2072021	.|.	.|.	.|.	L|W	21|37	.|.	.|.	P|R	-|-	2|1	0|2	LAMA4|LAMA4	112619598|112619598	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.811000|0.811000	0.45836|0.45836	-4.439000|-4.439000	0.00234|0.00234	-4.513000|-4.513000	0.00045|0.00045	-0.982000|-0.982000	0.02568|0.02568	CCG|CGG	G|0.735;A|0.265	0.265	strong		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112512905	G	A	112512905	2	1	23	1	0	0	0	0	0	0	0	1	8608	1103	39	1		1	LAMA4	6	112512905	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32864	112512905	58602162	1697	18153										
HS3ST5	222537	hgsc.bcm.edu	37	chr6	114378722	114378722	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgacgacatgaaattgctcaAttggaaagtatttcaaccac	7	9	2	1	rs17793043	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:114378722A>T	ENST00000312719.5	-	5	1928	c.740T>A	c.(739-741)aTt>aAt	p.I247N	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.I247N|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	247			I -> N (in dbSNP:rs17793043).		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAATTGCTCAATTGGAAAGTA	0.443													A|||	15	0.00299521	0.0	0.0043	5008	,	,		19731	0.0		0.0119	False		,,,				2504	0.0				p.I247N		Atlas-SNP	.											.	HS3ST5	80	.	0			c.T740A						PASS	.	A	ASN/ILE	7,4399	12.9+/-30.5	0,7,2196	192	185	187		740	6.1	1	6	dbSNP_123	187	90,8510	51.1+/-111.2	0,90,4210	yes	missense	HS3ST5	NM_153612.3	149	0,97,6406	TT,TA,AA		1.0465,0.1589,0.7458	possibly-damaging	247/347	114378722	97,12909	2203	4300	6503	SO:0001583	missense	222537	exon2			TGCTCAATTGGAA	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.740T>A	6.37:g.114378722A>T	ENSP00000427888:p.Ile247Asn	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	199	105	0.527638	NM_153612	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	12	0.005494505494505495	0	0.0	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	A	11.94	1.789740	0.31685	0.001589	0.010465	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.81579	-1.51;-1.51	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.055484	0.64402	D	0.000001	T	0.65471	0.2694	L	0.58101	1.795	0.47698	D	0.999498	B	0.32302	0.363	B	0.27796	0.083	T	0.66826	-0.5825	10	0.15499	T	0.54	.	16.6093	0.84858	1.0:0.0:0.0:0.0	rs17793043;rs17793043	247	Q8IZT8	HS3S5_HUMAN	N	247	ENSP00000427888:I247N;ENSP00000440332:I247N	ENSP00000427888:I247N	I	-	2	0	HS3ST5	114485415	1.000000	0.71417	0.992000	0.48379	0.873000	0.50193	6.369000	0.73109	2.324000	0.78689	0.533000	0.62120	ATT	A|0.994;T|0.006	0.006	strong		0.443	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		T	114378722	A	T	114378722	3	4	23	1	0	0	0	0	1	0	0	0	7368	101	4	5	304	5	HS3ST5	6	114378722	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1865817	114378722	56736345	1698	18154										
COL10A1	1300	hgsc.bcm.edu	37	chr6	116446576	116446576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccttttatgcctgtgggcAtttggtatcgttcagcgtaa	12	8	1	0	rs1064583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:116446576A>G	ENST00000327673.4	-	1	487	c.80T>C	c.(79-81)aTg>aCg	p.M27T	COL10A1_ENST00000243222.4_Missense_Mutation_p.M27T|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	27	Nonhelical region (NC2).		M -> T (in dbSNP:rs1064583). {ECO:0000269|PubMed:15880705, ECO:0000269|PubMed:1764025}.		cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGTGGGCATTTGGTATCG	0.398													G|||	2231	0.445487	0.736	0.3329	5008	,	,		16919	0.2579		0.3956	False		,,,				2504	0.3773				p.M27T		Atlas-SNP	.											.	COL10A1	51	.	0			c.T80C						PASS	.	G	,THR/MET	3084,1322	444.5+/-347.4	1096,892,215	261	243	249		,80	6.1	0.9	6	dbSNP_86	249	3384,5216	641.0+/-399.6	645,2094,1561	yes	intron,missense	COL10A1,NT5DC1	NM_152729.2,NM_000493.3	,81	1741,2986,1776	GG,GA,AA		39.3488,30.0045,49.7309	,benign	,27/681	116446576	6468,6538	2203	4300	6503	SO:0001583	missense	1300	exon2			GTGGGCATTTGGT		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.80T>C	6.37:g.116446576A>G	ENSP00000327368:p.Met27Thr	Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	244	243	0.995902	NM_000493	A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	CCDS5105.1	924	0.4230769230769231	346	0.7032520325203252	135	0.3729281767955801	144	0.2517482517482518	299	0.3944591029023747	G	0.013	-1.633148	0.00806	0.699955	0.393488	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729;ENST00000418500	D;D;D;T	0.89552	-2.53;-2.53;-2.51;-0.36	6.06	6.06	0.98353	.	0.435749	0.22816	N	0.055291	T	0.45276	0.1334	N	0.00268	-1.735	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.26408	T	0.33	.	8.6061	0.33773	0.076:0.0:0.7387:0.1853	rs1064583;rs52830706;rs59696986;rs1064583	27	Q03692	COAA1_HUMAN	T	27	ENSP00000243222:M27T;ENSP00000327368:M27T;ENSP00000411285:M27T;ENSP00000392712:M27T	ENSP00000243222:M27T	M	-	2	0	COL10A1	116553269	0.995000	0.38212	0.876000	0.34364	0.004000	0.04260	2.657000	0.46724	1.593000	0.50029	-0.119000	0.15052	ATG	A|0.536;G|0.464	0.464	strong		0.398	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			G	116446576	A	G	116446576	3	3	23	1	0	0	0	0	1	0	0	0	3666	217	8	2	1970	2	COL10A1	6	116446576	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2067854	116446576	54668491	1699	18155										
FAM26F	441168	hgsc.bcm.edu	37	chr6	116784797	116784797	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacagtatcaggtctactGaaggagatacggtgattcct	10	9	3	3	rs11544160	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:116784797G>A	ENST00000368605.1	+	3	972	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.E121K	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	293			E -> K (in dbSNP:rs11544160).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAGGTCTACTGAAGGAGATAC	0.378													G|||	188	0.0375399	0.0023	0.0476	5008	,	,		17648	0.0099		0.0716	False		,,,				2504	0.0716				p.S293T		Atlas-SNP	.											.	FAM26F	12	.	0			c.T877A						PASS	.	G	LYS/GLU	67,4339	61.1+/-98.1	0,67,2136	169	180	176		877	1.8	0	6	dbSNP_120	176	683,7917	170.9+/-221.9	27,629,3644	yes	missense	FAM26F	NM_001010919.1	56	27,696,5780	AA,AG,GG		7.9419,1.5207,5.7666	probably-damaging	293/316	116784797	750,12256	2203	4300	6503	SO:0001583	missense	441168	exon3			TCTACTGAAGGAG	AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.877G>A	6.37:g.116784797G>A	ENSP00000357594:p.Glu293Lys	Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	210	104	0.495238	NM_001010919	B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	84	0.038461538461538464	0	0.0	19	0.052486187845303865	6	0.01048951048951049	59	0.07783641160949868	G	12.21	1.868797	0.32977	0.015207	0.079419	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.34667	1.37;2.42;1.35	4.89	1.77	0.24775	.	1.107720	0.07034	N	0.828925	T	0.21550	0.0519	M	0.77313	2.365	0.09310	N	1	B	0.32653	0.379	B	0.28553	0.091	T	0.38308	-0.9667	10	0.59425	D	0.04	-0.5113	9.7317	0.40366	0.2707:0.0:0.7293:0.0	rs11544160;rs60777515;rs11544160	293	Q5R3K3	FA26F_HUMAN	K	121;293;136	ENSP00000357595:E121K;ENSP00000357594:E293K;ENSP00000357593:E136K	ENSP00000357593:E136K	E	+	1	0	FAM26F	116891490	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	0.322000	0.19576	0.591000	0.29711	0.655000	0.94253	GAA	G|0.951;A|0.049	0.049	strong		0.378	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116784797	G	A	116784797	3	1	23	1	0	0	0	0	1	0	0	0	5551	1291	45	2	883	2	FAM26F	6	116784797	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	338221	116784797	54330270	1700	18156										
KPNA5	3841	hgsc.bcm.edu	37	chr6	117045491	117045491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaagttgtatcacctgcaTtaagggcagttggtaatatt	9	5	1	0	rs2243368	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:117045491T>C	ENST00000368564.1	+	10	1100	c.952T>C	c.(952-954)Tta>Cta	p.L318L	KPNA5_ENST00000356348.1_Silent_p.L318L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	315	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ATCACCTGCATTAAGGGCAGT	0.274													T|||	103	0.0205671	0.0038	0.0259	5008	,	,		18165	0.0		0.0755	False		,,,				2504	0.0041				p.L318L		Atlas-SNP	.											.	KPNA5	57	.	0			c.T952C						PASS	.	T		69,4337	61.1+/-98.1	1,67,2135	90	89	89		952	1.5	1	6	dbSNP_98	89	614,7976	159.2+/-212.6	20,574,3701	no	coding-synonymous	KPNA5	NM_002269.2		21,641,5836	CC,CT,TT		7.1478,1.566,5.2555		318/540	117045491	683,12313	2203	4295	6498	SO:0001819	synonymous_variant	3841	exon10			CCTGCATTAAGGG	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.952T>C	6.37:g.117045491T>C		Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	228	92	0.403509	NM_002269	B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																			T|0.959;C|0.041	0.041	strong		0.274	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		C	117045491	T	C	117045491	2	2	23	1	0	0	0	0	0	0	0	1	8433	1490	52	2		2	KPNA5	6	117045491	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	260694	117045491	54069576	1701	18157										
FAM162B	221303	hgsc.bcm.edu	37	chr6	117086378	117086378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaggattttcttgtcgaaCtgcgaaggcctgcgctgcgt	13	10	1	0	rs654128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:117086378C>A	ENST00000368557.4	-	2	359	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	71			Q -> H (in dbSNP:rs654128).			integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						TCTTGTCGAACTGCGAAGGCC	0.617													C|||	429	0.0856629	0.0787	0.1182	5008	,	,		15996	0.0655		0.1491	False		,,,				2504	0.0276				p.Q71H		Atlas-SNP	.											.	FAM162B	19	.	0			c.G213T						PASS	.	C	HIS/GLN	407,3927		21,365,1781	54	61	59	http://www.ncbi.nlm.nih.gov/pubmed?term	213	-7.3	0.3	6	dbSNP_83	59	1354,7202		116,1122,3040	yes	missense	FAM162B	NM_001085480.2	24	137,1487,4821	AA,AC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	15.8252,9.3909,13.6618	possibly-damaging	71/163	117086378	1761,11129	2167	4278	6445	SO:0001583	missense	221303	exon2			GTCGAACTGCGAA	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.213G>T	6.37:g.117086378C>A	ENSP00000357545:p.Gln71His	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	25	8	0.32	NM_001085480	Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	CCDS43497.1	215	0.09844322344322344	37	0.07520325203252033	46	0.1270718232044199	26	0.045454545454545456	106	0.13984168865435356	C	10.99	1.505972	0.26949	0.093909	0.158252	ENSG00000183807	ENST00000368557	T	0.31769	1.48	3.65	-7.29	0.01451	.	0.412070	0.26397	N	0.024604	T	0.15955	0.0384	L	0.41236	1.265	0.52501	P	4.700000000001925E-5	D	0.55385	0.971	P	0.54372	0.75	T	0.14671	-1.0464	9	0.46703	T	0.11	-4.7106	11.3138	0.49379	0.0:0.6433:0.1333:0.2234	rs654128;rs3737130;rs17264045;rs60583751;rs654128	71	Q5T6X4	F162B_HUMAN	H	71	ENSP00000357545:Q71H	ENSP00000357545:Q71H	Q	-	3	2	FAM162B	117193071	0.004000	0.15560	0.346000	0.25655	0.172000	0.22775	-2.282000	0.01156	-1.544000	0.01721	-1.069000	0.02264	CAG	C|0.895;A|0.105	0.105	strong		0.617	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		A	117086378	C	A	117086378	3	1	23	1	0	0	0	0	1	0	0	0	5475	564	20	4	287	4	FAM162B	6	117086378	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40887	117086378	54028689	1702	18158										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117113653	117113653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgacaataatctccacagcTggtacatatttgccaaatgt	6	9	1	1	rs615199	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:117113653T>C	ENST00000310357.3	-	6	2454	c.2433A>G	c.(2431-2433)ccA>ccG	p.P811P	GPRC6A_ENST00000368549.3_Silent_p.P740P|GPRC6A_ENST00000530250.1_Silent_p.P636P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	811					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P811P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTCCACAGCTGGTACATATT	0.343													T|||	1534	0.30631	0.1452	0.3674	5008	,	,		24347	0.5228		0.3082	False		,,,				2504	0.2556				p.P811P		Atlas-SNP	.											GPRC6A,NS,carcinoma,0,1	GPRC6A	152	1	1	Substitution - coding silent(1)	stomach(1)	c.A2433G						PASS	.	T		744,3662	304.1+/-288.3	65,614,1524	79	81	81		2433	-5.8	0.3	6	dbSNP_83	81	2838,5762	446.6+/-361.3	459,1920,1921	no	coding-synonymous	GPRC6A	NM_148963.2		524,2534,3445	CC,CT,TT		33.0,16.8861,27.5411		811/927	117113653	3582,9424	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			CACAGCTGGTACA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2433A>G	6.37:g.117113653T>C		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	188	93	0.494681	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			C|0.301;N|0.000	0.301	strong		0.343	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			C	117113653	T	C	117113653	2	2	23	1	0	0	0	0	0	0	0	1	6728	1567	55	3		3	GPRC6A	6	117113653	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	27275	117113653	54001414	1703	18159										
SLC35F1	222553	hgsc.bcm.edu	37	chr6	118588185	118588185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgttttgtgatcccagtcGtgattttgctctcctggttc	9	10	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:118588185G>A	ENST00000360388.4	+	4	706	c.505G>A	c.(505-507)Gtg>Atg	p.V169M		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	169					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GATCCCAGTCGTGATTTTGCT	0.498																																					p.V169M		Atlas-SNP	.											SLC35F1,bladder,carcinoma,-2,2	SLC35F1	65	2	0			c.G505A						scavenged	.						387	354	365					6																	118588185		2203	4300	6503	SO:0001583	missense	222553	exon4			CCAGTCGTGATTT	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.505G>A	6.37:g.118588185G>A	ENSP00000353557:p.Val169Met	Somatic	366	2	0.00546448		WXS	Illumina HiSeq	Phase_I	379	117	0.308707	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974196	0.74246	.	.	ENSG00000196376	ENST00000360388	T	0.71341	-0.56	4.99	4.99	0.66335	.	0.143231	0.46442	D	0.000299	T	0.80788	0.4690	M	0.84433	2.695	0.58432	D	0.999996	D	0.53312	0.959	P	0.55713	0.782	D	0.83597	0.0126	10	0.72032	D	0.01	-26.7614	18.8278	0.92125	0.0:0.0:1.0:0.0	.	169	Q5T1Q4	S35F1_HUMAN	M	169	ENSP00000353557:V169M	ENSP00000353557:V169M	V	+	1	0	SLC35F1	118694878	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.849000	0.55910	2.756000	0.94617	0.561000	0.74099	GTG	.	.	none		0.498	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		A	118588185	G	A	118588185	3	1	23	1	0	0	0	0	1	0	0	0	14588	1145	40	1	519	1	SLC35F1	6	118588185	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1474532	118588185	52526882	1704	18160										
C6orf170	221322	hgsc.bcm.edu	37	chr6	121401996	121401996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttccaaaatttccatgtatTcaaaataatcactcactcga	3	10	3	0	rs56300302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:121401996T>G	ENST00000398212.2	-	32	3744	c.3695A>C	c.(3694-3696)gAa>gCa	p.E1232A	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.E1273A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1232	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTCCATGTATTCAAAATAATC	0.383													T|||	73	0.0145767	0.0189	0.0202	5008	,	,		15540	0.002		0.0139	False		,,,				2504	0.0184				p.E1232A		Atlas-SNP	.											C6orf170,NS,carcinoma,-1,1	C6orf170	146	1	0			c.A3695C						PASS	.	T	ALA/GLU	44,3710		1,42,1834	100	93	95		3695	5.6	1	6	dbSNP_129	95	129,8115		3,123,3996	yes	missense	C6orf170	NM_152730.4	107	4,165,5830	GG,GT,TT		1.5648,1.1721,1.4419	possibly-damaging	1232/1258	121401996	173,11825	1877	4122	5999	SO:0001583	missense	221322	exon32			ATGTATTCAAAAT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3695A>C	6.37:g.121401996T>G	ENSP00000381270:p.Glu1232Ala	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	194	113	0.582474	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	28	0.01282051282051282	11	0.022357723577235773	6	0.016574585635359115	0	0.0	11	0.014511873350923483	T	18.36	3.606885	0.66558	0.011721	0.015648	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25579	1.79;1.79	5.55	5.55	0.83447	Rab-GAP/TBC domain (1);	0.229097	0.42294	D	0.000726	T	0.16896	0.0406	L	0.56769	1.78	0.54753	D	0.999989	B	0.23990	0.095	B	0.20384	0.029	T	0.03086	-1.1074	10	0.66056	D	0.02	.	15.1725	0.72884	0.0:0.0:0.0:1.0	rs56300302	1232	Q96NH3	BROMI_HUMAN	A	1273;1232	ENSP00000275159:E1273A;ENSP00000381270:E1232A	ENSP00000275159:E1273A	E	-	2	0	C6orf170	121443695	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.177000	0.58276	2.228000	0.72767	0.528000	0.53228	GAA	T|0.984;G|0.016	0.016	strong		0.383	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		G	121401996	T	G	121401996	3	3	23	1	0	0	0	0	1	0	0	0	2344	1783	62	5	82	5	C6orf170	6	121401996	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2813811	121401996	49713071	1705	18161										
C6orf170	221322	hgsc.bcm.edu	37	chr6	121642851	121642851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcattcttcaccctgattcCgatcagatgtgcatttttcc	6	13	3	2	rs7767455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:121642851C>T	ENST00000398212.2	-	2	294	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R82Q	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	82			R -> Q (in dbSNP:rs7767455). {ECO:0000269|PubMed:14702039}.		cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ACCCTGATTCCGATCAGATGT	0.373													C|||	983	0.196286	0.472	0.0893	5008	,	,		18797	0.1419		0.0577	False		,,,				2504	0.0982				p.R82Q		Atlas-SNP	.											.	C6orf170	146	.	0			c.G245A						PASS	.	C	GLN/ARG	1383,2365		276,831,767	249	226	233		245	4.3	0.9	6	dbSNP_116	233	527,7735		16,495,3620	yes	missense	C6orf170	NM_152730.4	43	292,1326,4387	TT,TC,CC		6.3786,36.8997,15.9034	benign	82/1258	121642851	1910,10100	1874	4131	6005	SO:0001583	missense	221322	exon2			TGATTCCGATCAG	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.245G>A	6.37:g.121642851C>T	ENSP00000381270:p.Arg82Gln	Somatic	315	1	0.0031746		WXS	Illumina HiSeq	Phase_I	281	128	0.455516	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	385	0.1762820512820513	219	0.4451219512195122	37	0.10220994475138122	87	0.1520979020979021	42	0.055408970976253295	C	2.502	-0.314889	0.05422	0.368997	0.063786	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.15372	2.43;2.43;2.43	5.44	4.27	0.50696	.	0.216710	0.41396	N	0.000886	T	0.00906	0.0030	N	0.00197	-1.87	0.46725	P	8.230000000000182E-4	B	0.06786	0.001	B	0.01281	0.0	T	0.45920	-0.9228	9	0.02654	T	1	-15.3945	11.4802	0.50320	0.0:0.071:0.0:0.929	rs7767455;rs59738942;rs7767455	82	Q96NH3	BROMI_HUMAN	Q	82	ENSP00000275159:R82Q;ENSP00000381270:R82Q;ENSP00000397993:R82Q	ENSP00000275159:R82Q	R	-	2	0	C6orf170	121684550	1.000000	0.71417	0.911000	0.35937	0.010000	0.07245	2.746000	0.47467	0.902000	0.36520	-0.355000	0.07637	CGG	C|0.826;T|0.174	0.174	strong		0.373	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121642851	C	T	121642851	3	4	23	1	0	0	0	0	1	0	0	0	2344	652	23	1	3652	1	C6orf170	6	121642851	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	240855	121642851	49472216	1706	18162										
TRDN	10345	hgsc.bcm.edu	37	chr6	123869607	123869607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttctttgtacctttatcaGtatcttcgtcaccatcatca	4	11	6	0	rs9490809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:123869607G>C	ENST00000398178.3	-	3	404	c.383C>G	c.(382-384)aCt>aGt	p.T128S	TRDN_ENST00000334268.4_Missense_Mutation_p.T128S|TRDN_ENST00000546248.1_Missense_Mutation_p.T128S|TRDN_ENST00000542443.1_Missense_Mutation_p.T128S	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	128			T -> S (in dbSNP:rs9490809). {ECO:0000269|PubMed:15489334}.		cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACCTTTATCAGTATCTTCGTC	0.368													G|||	1968	0.392971	0.5363	0.3372	5008	,	,		16140	0.0813		0.5298	False		,,,				2504	0.4192				p.T128S		Atlas-SNP	.											TRDN,NS,carcinoma,-1,1	TRDN	88	1	0			c.C383G						PASS	.	G	SER/THR	2066,1694		570,926,384	60	57	58		383	2	0.2	6	dbSNP_119	58	4418,3802		1206,2006,898	yes	missense	TRDN	NM_006073.2	58	1776,2932,1282	CC,CG,GG		46.253,45.0532,45.8765	benign	128/730	123869607	6484,5496	1880	4110	5990	SO:0001583	missense	10345	exon3			TTATCAGTATCTT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.383C>G	6.37:g.123869607G>C	ENSP00000381240:p.Thr128Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	101	101	1	NM_001256022	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	834	0.38186813186813184	256	0.5203252032520326	137	0.3784530386740331	46	0.08041958041958042	395	0.521108179419525	G	0.108	-1.141849	0.01728	0.549468	0.53747	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000333613;ENST00000542443;ENST00000265491	T;T;T;T	0.63580	0.58;0.58;0.58;-0.05	5.05	1.97	0.26223	Aspartyl beta-hydroxylase/Triadin domain (1);	1.405680	0.04389	N	0.362083	T	0.36220	0.0959	L	0.56769	1.78	0.80722	P	0.0	B;P;B;B;B	0.46220	0.066;0.874;0.058;0.058;0.058	B;B;B;B;B	0.44163	0.036;0.443;0.026;0.026;0.038	T	0.08700	-1.0709	9	0.12430	T	0.62	1.6996	4.2229	0.10567	0.3838:0.2427:0.3736:0.0	rs9490809;rs11537943;rs17747145;rs52833290;rs9490809	128;128;128;128;128	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	S	128;128;128;128;128;128;33;128;33	ENSP00000381240:T128S;ENSP00000333984:T128S;ENSP00000439281:T128S;ENSP00000437684:T128S	ENSP00000265491:T33S	T	-	2	0	TRDN	123911306	0.644000	0.27277	0.170000	0.22879	0.038000	0.13279	-0.006000	0.12833	0.376000	0.24707	0.643000	0.83706	ACT	G|0.614;C|0.386	0.386	strong		0.368	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	123869607	G	C	123869607	3	2	23	1	0	0	0	0	1	0	0	0	16465	1029	36	4	1962	4	TRDN	6	123869607	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2226756	123869607	47245460	1707	18163										
CENPW	387103	hgsc.bcm.edu	37	chr6	126661502	126661502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctaaagcgagtcttcaagcGaaagaagcctcaacttcgtc	8	11	4	1	rs41285260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:126661502G>T	ENST00000368328.4	+	1	183	c.83G>T	c.(82-84)cGa>cTa	p.R28L	CENPW_ENST00000368326.1_Missense_Mutation_p.R28L|CENPW_ENST00000368325.1_Missense_Mutation_p.R28L			Q5EE01	CENPW_HUMAN	centromere protein W	28					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						GTCTTCAAGCGAAAGAAGCCT	0.527													G|||	258	0.0515176	0.025	0.0735	5008	,	,		17642	0.0		0.1093	False		,,,				2504	0.0654				p.R28L		Atlas-SNP	.											.	CENPW	7	.	0			c.G83T						PASS	.	G	LEU/ARG	142,4264	100.3+/-138.9	3,136,2064	84	78	80		83	-2.2	0	6	dbSNP_127	80	762,7838	182.2+/-230.7	25,712,3563	yes	missense	CENPW	NM_001012507.2	102	28,848,5627	TT,TG,GG		8.8605,3.2229,6.9506	possibly-damaging	28/89	126661502	904,12102	2203	4300	6503	SO:0001583	missense	387103	exon1			TCAAGCGAAAGAA	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.83G>T	6.37:g.126661502G>T	ENSP00000357311:p.Arg28Leu	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_001012507	A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	CCDS34529.1	116	0.05311355311355311	12	0.024390243902439025	28	0.07734806629834254	0	0.0	76	0.10026385224274406	G	14.95	2.687974	0.48097	0.032229	0.088605	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	T	0.22743	1.94	5.32	-2.24	0.06909	Histone-fold (1);	1.159190	0.06545	N	0.743893	T	0.04497	0.0123	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.44967	-0.9293	9	0.72032	D	0.01	-7.9028	3.7386	0.08521	0.4097:0.0:0.3194:0.2709	rs41285260	28	Q5EE01	CENPW_HUMAN	L	28	ENSP00000357311:R28L	ENSP00000357308:R28L	R	+	2	0	CENPW	126703195	0.015000	0.18098	0.000000	0.03702	0.917000	0.54804	-0.203000	0.09438	-0.711000	0.04995	-0.309000	0.09137	CGA	G|0.937;T|0.063	0.063	strong		0.527	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			T	126661502	G	T	126661502	3	4	23	1	0	0	0	0	1	0	0	0	3244	1058	37	4	85	4	CENPW	6	126661502	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2791895	126661502	44453565	1708	18164										
KIAA0408	9729	hgsc.bcm.edu	37	chr6	127768762	127768762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacagctcagattcttcctGtttttctgtttttctttttc	5	9	4	1	rs6902288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:127768762G>A	ENST00000483725.3	-	5	1038	c.702C>T	c.(700-702)aaC>aaT	p.N234N	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	234										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GATTCTTCCTGTTTTTCTGTT	0.368													A|||	2071	0.413538	0.5787	0.415	5008	,	,		18533	0.0655		0.5606	False		,,,				2504	0.3967				p.N234N		Atlas-SNP	.											.	KIAA0408	61	.	0			c.C702T						PASS	.	A	,	2548,1858	534.4+/-373.9	724,1100,379	55	54	54		,702	-5	0	6	dbSNP_116	54	5115,3485	499.2+/-374.9	1515,2085,700	no	utr-3,coding-synonymous	KIAA0408,C6orf174	NM_001012279.2,NM_014702.4	,	2239,3185,1079	AA,AG,GG		40.5233,42.1698,41.081	,	,234/695	127768762	7663,5343	2203	4300	6503	SO:0001819	synonymous_variant	9729	exon5			CTTCCTGTTTTTC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.702C>T	6.37:g.127768762G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	62	28	0.451613	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	CCDS34531.1																																																																																			G|0.483;A|0.517	0.517	strong		0.368	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		A	127768762	G	A	127768762	2	1	23	1	0	0	0	0	0	0	0	1	8174	1368	48	2		2	KIAA0408	6	127768762	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1107260	127768762	43346305	1709	18165										
PTPRK	5796	hgsc.bcm.edu	37	chr6	128388799	128388799	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggtaggtttcccgggggGagttctgcagcaaagtaata	14	7	2	0	rs35030557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:128388799G>T	ENST00000368215.3	-	12	2021	c.2022C>A	c.(2020-2022)ctC>ctA	p.L674L	PTPRK_ENST00000368213.5_Silent_p.L674L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Silent_p.L674L|PTPRK_ENST00000368226.4_Silent_p.L674L|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Silent_p.L674L|PTPRK_ENST00000368227.3_Silent_p.L674L|PTPRK_ENST00000532331.1_Silent_p.L674L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	674	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.			AEL -> CRT (in Ref. 2; AAC37599). {ECO:0000305}.	cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCCCGGGGGGAGTTCTGCAG	0.552													G|||	1228	0.245208	0.0408	0.4092	5008	,	,		15066	0.2411		0.4334	False		,,,				2504	0.2157				p.L674L		Atlas-SNP	.											.	PTPRK	330	.	0			c.C2022A						PASS	.	G	,	422,3984	206.8+/-228.3	22,378,1803	114	111	112		2022,2022	-11.9	0	6	dbSNP_126	112	3675,4925	527.0+/-381.1	772,2131,1397	no	coding-synonymous,coding-synonymous	PTPRK	NM_001135648.1,NM_002844.3	,	794,2509,3200	TT,TG,GG		42.7326,9.5778,31.5008	,	674/1447,674/1441	128388799	4097,8909	2203	4300	6503	SO:0001819	synonymous_variant	5796	exon12			CGGGGGGAGTTCT	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2022C>A	6.37:g.128388799G>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	95	89	0.936842	NM_001135648	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37																																																																																				T|0.314;G|0.686;C|0.000	0.314	strong		0.552	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128388799	G	T	128388799	2	4	23	1	0	0	0	0	0	0	0	1	12805	1161	41	4		4	PTPRK	6	128388799	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	620037	128388799	42726268	1710	18166										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129371106	129371106	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgcttctaatgctcttatCacgaccaatgcaacatgtgg	7	11	3	0	rs1140366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:129371106C>T	ENST00000421865.2	+	2	205	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	52	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCTCTTATCACGACCAATG	0.433													C|||	354	0.0706869	0.0015	0.0749	5008	,	,		17055	0.125		0.1282	False		,,,				2504	0.046				p.I52I		Atlas-SNP	.											.	LAMA2	481	.	0			c.C156T						PASS	.	C	,	104,4302	80.4+/-118.8	1,102,2100	196	176	183		156,156	4.6	1	6	dbSNP_86	183	1001,7599	216.4+/-255.5	62,877,3361	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	63,979,5461	TT,TC,CC		11.6395,2.3604,8.4961	,	52/3123,52/3119	129371106	1105,11901	2203	4300	6503	SO:0001819	synonymous_variant	3908	exon2			TCTTATCACGACC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.156C>T	6.37:g.129371106C>T		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	228	120	0.526316	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			C|0.907;T|0.093	0.093	strong		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129371106	C	T	129371106	2	4	23	1	0	0	0	0	0	0	0	1	8606	816	29	2		2	LAMA2	6	129371106	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	982307	129371106	41743961	1711	18167										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129571330	129571330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaggaagaagatacagaacGtgttctccagcttatgatta	10	6	1	5	rs3816665	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:129571330G>A	ENST00000421865.2	+	13	1905	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	619	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.		R -> H (in dbSNP:rs3816665). {ECO:0000269|Ref.8}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATACAGAACGTGTTCTCCAG	0.393													A|||	1357	0.270966	0.5961	0.134	5008	,	,		18775	0.0843		0.1551	False		,,,				2504	0.2403				p.R619H		Atlas-SNP	.											.	LAMA2	481	.	0			c.G1856A						PASS	.	A	HIS/ARG,HIS/ARG	2304,2102	574.2+/-383.7	631,1042,530	167	146	153		1856,1856	-5.1	0	6	dbSNP_107	153	1204,7396	763.4+/-407.6	90,1024,3186	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	721,2066,3716	AA,AG,GG		14.0,47.7077,26.9722	benign,benign	619/3123,619/3119	129571330	3508,9498	2203	4300	6503	SO:0001583	missense	3908	exon13			CAGAACGTGTTCT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1856G>A	6.37:g.129571330G>A	ENSP00000400365:p.Arg619His	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	99	57	0.575758	NM_000426	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	485	0.22206959706959706	272	0.5528455284552846	47	0.1298342541436464	46	0.08041958041958042	120	0.158311345646438	A	1.385	-0.582320	0.03827	0.522923	0.14	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.36340	1.26	5.69	-5.14	0.02875	Laminin B type IV (2);Laminin B, subgroup (1);	1.488520	0.03600	N	0.233286	T	0.14917	0.0360	L	0.46157	1.445	0.80722	P	0.0	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.002	T	0.15065	-1.0450	9	0.30854	T	0.27	.	16.1314	0.81445	0.1712:0.0906:0.7382:0.0	rs3816665;rs52811738;rs58534796;rs3816665	619;619	A6NF00;P24043	.;LAMA2_HUMAN	H	619	ENSP00000400365:R619H	ENSP00000346769:R619H	R	+	2	0	LAMA2	129613023	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.575000	0.02131	-1.322000	0.02278	-2.044000	0.00415	CGT	G|0.744;A|0.256	0.256	strong		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129571330	G	A	129571330	3	1	23	1	0	0	0	0	1	0	0	0	8606	1145	40	1	1906	1	LAMA2	6	129571330	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	200224	129571330	41543737	1712	18168										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129807714	129807714	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgtgatcagaccagagccGaatctgtttcatgatggaag	11	7	3	4	rs2229850	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:129807714G>A	ENST00000421865.2	+	56	7894	c.7845G>A	c.(7843-7845)ccG>ccA	p.P2615P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2615	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCAGAGCCGAATCTGTTTC	0.438													G|||	2022	0.403754	0.5877	0.3646	5008	,	,		19969	0.3631		0.2565	False		,,,				2504	0.3763				p.P2615P		Atlas-SNP	.											.	LAMA2	481	.	0			c.G7845A						PASS	.	G	,	2311,2095	604.3+/-390.3	620,1071,512	114	94	101		7845,7833	-4	0.6	6	dbSNP_98	101	2140,6460	367.3+/-334.7	275,1590,2435	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	895,2661,2947	AA,AG,GG		24.8837,47.5488,34.2227	,	2615/3123,2611/3119	129807714	4451,8555	2203	4300	6503	SO:0001819	synonymous_variant	3908	exon56			AGAGCCGAATCTG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7845G>A	6.37:g.129807714G>A		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	195	104	0.533333	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			A|0.356;G|0.644;T|0.000	0.356	strong		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129807714	G	A	129807714	2	1	23	1	0	0	0	0	0	0	0	1	8606	1045	37	1		1	LAMA2	6	129807714	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	236384	129807714	41307353	1713	18169										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129813053	129813053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatattttatcagcatctttAcagttcaagtggatgaaaac	6	6	3	1	rs2244008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:129813053A>G	ENST00000421865.2	+	57	7955	c.7906A>G	c.(7906-7908)Aca>Gca	p.T2636A	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2636	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> A (in dbSNP:rs2244008).		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.T2636A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATCTTTACAGTTCAAGT	0.373													A|||	559	0.111621	0.121	0.0749	5008	,	,		19091	0.1319		0.0686	False		,,,				2504	0.1483				p.T2636A		Atlas-SNP	.											LAMA2,NS,carcinoma,0,1	LAMA2	481	1	1	Substitution - Missense(1)	stomach(1)	c.A7906G						scavenged	.	A	ALA/THR,ALA/THR	509,3897	230.7+/-244.8	36,437,1730	39	41	40		7894,7906	5.5	1	6	dbSNP_100	40	542,8058	149.1+/-204.2	18,506,3776	yes	missense,missense	LAMA2	NM_001079823.1,NM_000426.3	58,58	54,943,5506	GG,GA,AA		6.3023,11.5524,8.0809	benign,benign	2632/3119,2636/3123	129813053	1051,11955	2203	4300	6503	SO:0001583	missense	3908	exon57			ATCTTTACAGTTC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7906A>G	6.37:g.129813053A>G	ENSP00000400365:p.Thr2636Ala	Somatic	60	2	0.0333333		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_000426	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	220	0.10073260073260074	52	0.10569105691056911	26	0.0718232044198895	88	0.15384615384615385	54	0.0712401055408971	A	13.41	2.230055	0.39399	0.115524	0.063023	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.77358	-1.09	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.239075	0.49916	D	0.000140	T	0.62986	0.2473	M	0.70842	2.15	0.29946	P	0.8206370000000001	B;B	0.15930	0.015;0.015	B;B	0.14023	0.01;0.01	T	0.62374	-0.6868	8	.	.	.	.	10.9615	0.47387	0.9268:0.0:0.0732:0.0	rs2244008;rs59479676;rs2244008	2637;2636	A6NF00;P24043	.;LAMA2_HUMAN	A	2636;2635;2636;654	ENSP00000400365:T2636A	.	T	+	1	0	LAMA2	129854746	1.000000	0.71417	0.959000	0.39883	0.653000	0.38743	4.011000	0.57124	2.196000	0.70406	0.482000	0.46254	ACA	A|0.905;C|0.001	.	strong		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			G	129813053	A	G	129813053	3	3	23	1	0	0	0	0	1	0	0	0	8606	391	14	2	8132	2	LAMA2	6	129813053	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5339	129813053	41302014	1714	18170										
EPB41L2	2037	hgsc.bcm.edu	37	chr6	131190838	131190838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgtgtacactcttctctccGggtatcttttgggcacctac	8	13	3	0	rs17059736	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:131190838G>A	ENST00000337057.3	-	15	2653	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.P824P|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_Silent_p.P754P|EPB41L2_ENST00000524581.1_Silent_p.P202P|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.P754P|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	824					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTTCTCTCCGGGTATCTTTT	0.507													G|||	799	0.159545	0.2489	0.2104	5008	,	,		19065	0.0873		0.1262	False		,,,				2504	0.1115				p.P824P		Atlas-SNP	.											.	EPB41L2	96	.	0			c.C2472T						PASS	.	G	,,,,	1149,3257	408.4+/-334.6	155,839,1209	266	248	254		,,,,2472	-0.6	0.6	6	dbSNP_123	254	988,7612	212.5+/-252.8	51,886,3363	no	intron,intron,intron,intron,coding-synonymous	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,	206,1725,4572	AA,AG,GG		11.4884,26.0781,16.4309	,,,,	,,,,824/1006	131190838	2137,10869	2203	4300	6503	SO:0001819	synonymous_variant	2037	exon15			CTCTCCGGGTATC	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2472C>T	6.37:g.131190838G>A		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	260	112	0.430769	NM_001431	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	CCDS5141.1	336	0.15384615384615385	110	0.22357723577235772	71	0.19613259668508287	61	0.10664335664335664	94	0.12401055408970976	G	0.169	-1.073530	0.01918	0.260781	0.114884	ENSG00000079819	ENST00000456097	.	.	.	5.71	-0.641	0.11490	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.09310	P	0.9999999765644	.	.	.	.	.	.	T	0.18053	-1.0349	3	.	.	.	.	10.824	0.46620	0.5978:0.0:0.4022:0.0	rs17059736;rs17059736	.	.	.	W	367	.	.	R	-	1	2	EPB41L2	131232531	0.003000	0.15002	0.625000	0.29200	0.157000	0.22087	-0.125000	0.10579	-0.095000	0.12351	-1.587000	0.00848	CGG	G|0.841;A|0.159	0.159	strong		0.507	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			A	131190838	G	A	131190838	2	1	23	1	0	0	0	0	0	0	0	1	5153	1103	39	1		1	EPB41L2	6	131190838	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1377785	131190838	39924229	1715	18171										
ENPP1	5167	hgsc.bcm.edu	37	chr6	132172368	132172368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcagatgactgcaaggacAagggcgactgctgcatcaac	12	10	2	2	rs1044498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:132172368A>C	ENST00000360971.2	+	4	537	c.517A>C	c.(517-519)Aag>Cag	p.K173Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	173	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.		K -> Q (associated with NIDDM; dbSNP:rs1044498). {ECO:0000269|PubMed:10453738, ECO:0000269|PubMed:10480624, ECO:0000269|PubMed:16186408, ECO:0000269|PubMed:20034067}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTGCAAGGACAAGGGCGACTG	0.493													C|||	1714	0.342252	0.8835	0.196	5008	,	,		15825	0.0962		0.1332	False		,,,				2504	0.183				p.K173Q	Colon(104;336 1535 5856 11019 33782)	Atlas-SNP	.											.	ENPP1	108	.	0			c.A517C	GRCh37	CM993455	ENPP1	M	rs1044498	PASS	.	C	GLN/LYS	3310,1096	393.3+/-328.8	1262,786,155	133	127	129	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	517	3.4	0	6	dbSNP_86	129	1245,7355	761.3+/-407.6	92,1061,3147	yes	missense	ENPP1	NM_006208.2	53	1354,1847,3302	CC,CA,AA		14.4767,24.8752,35.0223	benign	173/926	132172368	4555,8451	2203	4300	6503	SO:0001583	missense	5167	exon4			AAGGACAAGGGCG	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.517A>C	6.37:g.132172368A>C	ENSP00000354238:p.Lys173Gln	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	93	40	0.430108	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	640	0.29304029304029305	427	0.8678861788617886	59	0.16298342541436464	62	0.10839160839160839	92	0.12137203166226913	C	11.34	1.610895	0.28712	0.751248	0.144767	ENSG00000197594	ENST00000360971	T	0.43294	0.95	5.55	3.39	0.38822	Somatomedin B domain (4);	0.811774	0.11213	N	0.587550	T	0.21186	0.0510	L	0.46885	1.475	0.80722	P	0.0	B	0.22604	0.072	B	0.26310	0.068	T	0.06607	-1.0817	9	0.27785	T	0.31	-0.3225	14.3354	0.66586	0.8272:0.1728:0.0:0.0	rs1044498;rs1801642;rs3184275;rs17847048;rs52820331;rs1044498	173	P22413	ENPP1_HUMAN	Q	173	ENSP00000354238:K173Q	ENSP00000354238:K173Q	K	+	1	0	ENPP1	132214061	0.097000	0.21791	0.001000	0.08648	0.926000	0.56050	1.966000	0.40481	0.174000	0.19809	-0.187000	0.12897	AAG	A|0.655;C|0.345	0.345	strong		0.493	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			C	132172368	A	C	132172368	3	2	23	1	0	0	0	0	1	0	0	0	5129	131	5	5	531	5	ENPP1	6	132172368	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	981530	132172368	38942699	1716	18172										
TAAR5	9038	hgsc.bcm.edu	37	chr6	132910634	132910634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagttggtgggcgtgtgaagCgctttgaagtaggacacagc	16	6	0	2	rs3813354	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:132910634C>T	ENST00000258034.2	-	1	243	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	64					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCGTGTGAAGCGCTTTGAAGT	0.557													C|||	1198	0.239217	0.1929	0.1859	5008	,	,		19545	0.3204		0.1044	False		,,,				2504	0.3947				p.A64A		Atlas-SNP	.											TAAR5,NS,carcinoma,-1,1	TAAR5	53	1	0			c.G192A						scavenged	.	C		714,3692	296.4+/-284.2	63,588,1552	192	190	191		192	-6.8	0	6	dbSNP_107	191	811,7789	187.7+/-234.9	39,733,3528	no	coding-synonymous	TAAR5	NM_003967.2		102,1321,5080	TT,TC,CC		9.4302,16.2052,11.7254		64/338	132910634	1525,11481	2203	4300	6503	SO:0001819	synonymous_variant	9038	exon1			GTGAAGCGCTTTG	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.192G>A	6.37:g.132910634C>T		Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	98	57	0.581633	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																			C|0.845;T|0.155	0.155	strong		0.557	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		T	132910634	C	T	132910634	2	4	23	1	0	0	0	0	0	0	0	1	15488	755	27	1		1	TAAR5	6	132910634	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	738266	132910634	38204433	1717	18173										
VNN2	8875	hgsc.bcm.edu	37	chr6	133073844	133073844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgttgaaagtcaccaactcCggcttttcagggacattaaa	9	9	2	1	rs33980664	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:133073844C>T	ENST00000326499.6	-	4	706	c.582G>A	c.(580-582)ccG>ccA	p.P194P	RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.P141P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	194	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCACCAACTCCGGCTTTTCAG	0.408													C|||	85	0.0169728	0.0023	0.049	5008	,	,		19553	0.004		0.0278	False		,,,				2504	0.0164				p.P194P		Atlas-SNP	.											.	VNN2	83	.	0			c.G582A						PASS	.	C	,,	24,4382	29.0+/-57.7	0,24,2179	119	115	116		,582,423	-10.8	0	6	dbSNP_126	116	294,8306	108.0+/-168.7	6,282,4012	no	intron,coding-synonymous,coding-synonymous	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	,,	6,306,6191	TT,TC,CC		3.4186,0.5447,2.445	,,	,194/521,141/468	133073844	318,12688	2203	4300	6503	SO:0001819	synonymous_variant	8875	exon4			CAACTCCGGCTTT	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.582G>A	6.37:g.133073844C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	45	0.473684	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																			C|0.976;T|0.024	0.024	strong		0.408	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			T	133073844	C	T	133073844	2	4	23	1	0	0	0	0	0	0	0	1	17180	639	23	1		1	VNN2	6	133073844	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	163210	133073844	38041223	1718	18174										
ALDH8A1	64577	hgsc.bcm.edu	37	chr6	135239758	135239758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggaccacacggtagccGccagcccatacttaacgttg	10	14	0	0	rs41286234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:135239758G>C	ENST00000265605.2	-	7	1327	c.1259C>G	c.(1258-1260)gCg>gGg	p.A420G	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A370G|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A366G	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	420					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACGGTAGCCGCCAGCCCATA	0.557													G|||	30	0.00599042	0.0	0.013	5008	,	,		20564	0.0		0.0199	False		,,,				2504	0.001				p.A420G		Atlas-SNP	.											.	ALDH8A1	68	.	0			c.C1259G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA	20,4386	28.1+/-56.4	0,20,2183	143	94	111		1109,1259,1097	4.3	0.8	6	dbSNP_127	111	134,8466	67.3+/-129.8	1,132,4167	yes	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	60,60,60	1,152,6350	CC,CG,GG		1.5581,0.4539,1.1841	benign,benign,benign	370/438,420/488,366/434	135239758	154,12852	2203	4300	6503	SO:0001583	missense	64577	exon7			GTAGCCGCCAGCC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1259C>G	6.37:g.135239758G>C	ENSP00000265605:p.Ala420Gly	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	278	133	0.478417	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	17	0.007783882783882784	0	0.0	1	0.0027624309392265192	0	0.0	16	0.021108179419525065	G	10.69	1.420932	0.25639	0.004539	0.015581	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.78364	1.44;1.44;1.44;-1.17	6.07	4.29	0.51040	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.303101	0.40144	N	0.001165	T	0.58075	0.2097	L	0.43701	1.375	0.47276	D	0.999372	B;B;B	0.21071	0.051;0.041;0.051	B;B;B	0.19391	0.025;0.014;0.025	T	0.60182	-0.7313	10	0.62326	D	0.03	.	12.4456	0.55649	0.0639:0.1187:0.8175:0.0	rs41286234;rs61731732	370;366;420	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	G	420;366;370;105	ENSP00000265605:A420G;ENSP00000356819:A366G;ENSP00000356821:A370G;ENSP00000437161:A105G	ENSP00000265605:A420G	A	-	2	0	ALDH8A1	135281451	1.000000	0.71417	0.790000	0.31976	0.072000	0.16883	3.780000	0.55386	0.879000	0.35944	0.655000	0.94253	GCG	G|0.981;C|0.019	0.019	strong		0.557	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			C	135239758	G	C	135239758	3	2	23	1	0	0	0	0	1	0	0	0	505	1087	38	4	208	4	ALDH8A1	6	135239758	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2165914	135239758	35875309	1719	18175										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135287533	135287533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaacctccccagctctttAaagtctttatatagctcaag	5	11	3	1	rs13064	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:135287533A>G	ENST00000367837.5	-	17	2183	c.1977T>C	c.(1975-1977)ttT>ttC	p.F659F	HBS1L_ENST00000445176.2_Silent_p.F383F|HBS1L_ENST00000367824.4_Silent_p.F495F|HBS1L_ENST00000367826.2_Silent_p.F617F|HBS1L_ENST00000527578.1_Silent_p.F495F|HBS1L_ENST00000415177.2_Silent_p.F594F	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	659					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCAGCTCTTTAAAGTCTTTAT	0.368													A|||	1299	0.259385	0.1906	0.2378	5008	,	,		16977	0.245		0.3549	False		,,,				2504	0.2843				p.F659F		Atlas-SNP	.											.	HBS1L	75	.	0			c.T1977C						PASS	.	A	,	1011,3395	376.8+/-322.2	113,785,1305	143	136	138		1851,1977	-9	0.4	6	dbSNP_52	138	3205,5395	484.5+/-371.4	595,2015,1690	no	coding-synonymous,coding-synonymous	HBS1L	NM_001145158.1,NM_006620.3	,	708,2800,2995	GG,GA,AA		37.2674,22.946,32.4158	,	617/643,659/685	135287533	4216,8790	2203	4300	6503	SO:0001819	synonymous_variant	10767	exon17			CTCTTTAAAGTCT	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1977T>C	6.37:g.135287533A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	139	81	0.582734	NM_006620	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1																																																																																			A|0.692;G|0.308	0.308	strong		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			G	135287533	A	G	135287533	2	3	23	1	0	0	0	0	0	0	0	1	6987	359	13	2		2	HBS1L	6	135287533	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47775	135287533	35827534	1720	18176										
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136589425	136589425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgagaactgggagaagaagGtgatgctgaagaggatgaag	17	3	0	7	rs77081633	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:136589425G>T	ENST00000531224.1	-	10	2524	c.2272C>A	c.(2272-2274)Cct>Act	p.P758T	BCLAF1_ENST00000353331.4_Missense_Mutation_p.P756T|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P758T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P756T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P756T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P585T|BCLAF1_ENST00000031135.9_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	758	Poly-Ser.				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)		GGAGAAGAAGGTGATGCTGAA	0.343													G|||	12	0.00239617	0.0	0.0014	5008	,	,		20171	0.0		0.0099	False		,,,				2504	0.001				p.P758T	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											.	BCLAF1	203	.	0			c.C2272A						PASS	.						134	118	123					6																	136589425		2203	4300	6503	SO:0001583	missense	9774	exon10			AAGAAGGTGATGC	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.2272C>A	6.37:g.136589425G>T	ENSP00000435210:p.Pro758Thr	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	220	40	0.181818	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	44	0.020146520146520148	1	0.0020325203252032522	5	0.013812154696132596	1	0.0017482517482517483	37	0.048812664907651716	G	8.714	0.912737	0.17907	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	4.87	3.74	0.42951	.	0.107851	0.41396	D	0.000887	T	0.04318	0.0119	N	0.14661	0.345	0.80722	D	1	B;P;B;B;B	0.36909	0.042;0.573;0.137;0.042;0.042	B;B;B;B;B	0.36666	0.031;0.23;0.031;0.031;0.031	T	0.14476	-1.0471	10	0.66056	D	0.02	-4.4078	6.3907	0.21585	0.2287:0.0:0.7713:0.0	.	756;86;756;758;585	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	T	758;756;758;585;756;756	ENSP00000435210:P758T;ENSP00000229446:P756T;ENSP00000435441:P758T;ENSP00000436501:P585T;ENSP00000434826:P756T;ENSP00000376159:P756T	ENSP00000229446:P756T	P	-	1	0	BCLAF1	136631118	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.955000	0.56715	2.431000	0.82371	0.484000	0.47621	CCT	G|0.976;T|0.024	0.024	strong		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136589425	G	T	136589425	3	4	23	1	0	0	0	0	1	0	0	0	1383	1261	44	4	506	4	BCLAF1	6	136589425	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1301892	136589425	34525642	1721	18177										
IL20RA	53832	hgsc.bcm.edu	37	chr6	137323213	137323213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggactcttgctgggtgaGagaagtaccttccgtgtttt	14	7	1	2	rs1342642	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:137323213G>A	ENST00000316649.5	-	7	1379	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	IL20RA_ENST00000541547.1_Missense_Mutation_p.L333F|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.L271F|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	382			L -> F (in dbSNP:rs1342642). {ECO:0000269|Ref.1}.		cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGCTGGGTGAGAGAAGTACCT	0.463													G|||	1000	0.199681	0.2383	0.183	5008	,	,		19502	0.0714		0.2594	False		,,,				2504	0.2301				p.L382F		Atlas-SNP	.											.	IL20RA	54	.	0			c.C1144T						PASS	.	G	PHE/LEU	977,3429	366.4+/-317.8	118,741,1344	79	74	76		1144	0.2	0	6	dbSNP_88	76	2322,6278	387.8+/-342.3	319,1684,2297	yes	missense	IL20RA	NM_014432.2	22	437,2425,3641	AA,AG,GG		27.0,22.1743,25.3652	possibly-damaging	382/554	137323213	3299,9707	2203	4300	6503	SO:0001583	missense	53832	exon7			GGGTGAGAGAAGT	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1144C>T	6.37:g.137323213G>A	ENSP00000314976:p.Leu382Phe	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	158	72	0.455696	NM_014432	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	450	0.20604395604395603	137	0.2784552845528455	69	0.19060773480662985	47	0.08216783216783216	197	0.2598944591029024	G	15.12	2.740564	0.49045	0.221743	0.27	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62232	0.3;1.76;0.04	5.76	0.246	0.15516	.	6.474150	0.00914	N	0.002515	T	0.48150	0.1484	L	0.56769	1.78	0.80722	P	0.0	P;P	0.49961	0.899;0.93	P;B	0.48840	0.592;0.38	T	0.18745	-1.0327	9	0.46703	T	0.11	-0.0228	6.7229	0.23340	0.0755:0.4712:0.3326:0.1207	rs1342642;rs17310128;rs52809262;rs61018497;rs1342642	271;382	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	F	382;271;333	ENSP00000314976:L382F;ENSP00000356722:L271F;ENSP00000437843:L333F	ENSP00000314976:L382F	L	-	1	0	IL20RA	137364906	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.732000	0.26072	0.013000	0.14918	0.655000	0.94253	CTC	G|0.794;N|0.001	.	strong		0.463	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		A	137323213	G	A	137323213	3	1	23	1	0	0	0	0	1	0	0	0	7668	942	33	2	521	2	IL20RA	6	137323213	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	733788	137323213	33791854	1722	18178										
IFNGR1	3459	hgsc.bcm.edu	37	chr6	137519588	137519588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaccacttctgttatactAgaaagttcttctgtatgttc	6	9	4	1	rs11914	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:137519588A>C	ENST00000367739.4	-	7	1171	c.1050T>G	c.(1048-1050)tcT>tcG	p.S350S	IFNGR1_ENST00000543628.1_Silent_p.S322S	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	350					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTGTTATACTAGAAAGTTCTT	0.453													A|||	471	0.0940495	0.0492	0.111	5008	,	,		17682	0.1062		0.1471	False		,,,				2504	0.0757				p.S350S		Atlas-SNP	.											.	IFNGR1	46	.	0			c.T1050G						PASS	.	A		267,4139	152.9+/-186.6	9,249,1945	120	118	119		1050	-11.4	0	6	dbSNP_52	119	1406,7194	273.1+/-290.5	109,1188,3003	no	coding-synonymous	IFNGR1	NM_000416.2		118,1437,4948	CC,CA,AA		16.3488,6.0599,12.8633		350/490	137519588	1673,11333	2203	4300	6503	SO:0001819	synonymous_variant	3459	exon7			TATACTAGAAAGT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1050T>G	6.37:g.137519588A>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	105	39	0.371429	NM_000416	B4DFT7|E1P587|Q53Y96	Silent	SNP	ENST00000367739.4	37	CCDS5185.1																																																																																			A|0.874;C|0.126	0.126	strong		0.453	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			C	137519588	A	C	137519588	2	2	23	1	0	0	0	0	0	0	0	1	7549	407	15	5		5	IFNGR1	6	137519588	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	196375	137519588	33595479	1723	18179										
IFNGR1	3459	hgsc.bcm.edu	37	chr6	137540423	137540423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcccatctcagccctgctCacaccctgcatgacaagggg	10	16	2	1	rs17181471	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:137540423C>T	ENST00000367739.4	-	1	163	c.42G>A	c.(40-42)gtG>gtA	p.V14V	IFNGR1_ENST00000478333.1_5'UTR|IFNGR1_ENST00000543628.1_5'Flank|IFNGR1_ENST00000367735.2_5'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	14					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CAGCCCTGCTCACACCCTGCA	0.687													C|||	22	0.00439297	0.0015	0.0086	5008	,	,		14299	0.0		0.0119	False		,,,				2504	0.002				p.V14V		Atlas-SNP	.											.	IFNGR1	46	.	0			c.G42A						PASS	.	C		10,4392	15.5+/-35.6	0,10,2191	43	42	42		42	3.2	0	6	dbSNP_123	42	58,8542	32.8+/-85.7	0,58,4242	no	coding-synonymous	IFNGR1	NM_000416.2		0,68,6433	TT,TC,CC		0.6744,0.2272,0.523		14/490	137540423	68,12934	2201	4300	6501	SO:0001819	synonymous_variant	3459	exon1			CCTGCTCACACCC		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.42G>A	6.37:g.137540423C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	131	52	0.396947	NM_000416	B4DFT7|E1P587|Q53Y96	Silent	SNP	ENST00000367739.4	37	CCDS5185.1																																																																																			C|0.995;T|0.005	0.005	strong		0.687	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			T	137540423	C	T	137540423	2	4	23	1	0	0	0	0	0	0	0	1	7549	813	29	2		2	IFNGR1	6	137540423	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20835	137540423	33574644	1724	18180										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138645228	138645228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgccaggtgcgagtggcGgccccgtcctcctccccaag	14	17	0	0	rs3734301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:138645228G>A	ENST00000251691.4	+	31	5104	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCGAGTGGCGGCCCCGTCCT	0.642													G|||	1143	0.228235	0.6142	0.1484	5008	,	,		18962	0.1151		0.0626	False		,,,				2504	0.0501				p.A1646A		Atlas-SNP	.											KIAA1244,NS,carcinoma,+1,1	KIAA1244	236	1	0			c.G4938A						scavenged	.	G		2271,2135	557.4+/-379.7	599,1073,531	42	48	46		4938	-10.9	0.2	6	dbSNP_107	46	535,8065	143.6+/-199.6	18,499,3783	no	coding-synonymous	KIAA1244	NM_020340.4		617,1572,4314	AA,AG,GG		6.2209,48.4567,21.5747		1646/2178	138645228	2806,10200	2203	4300	6503	SO:0001819	synonymous_variant	57221	exon31			AGTGGCGGCCCCG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4938G>A	6.37:g.138645228G>A		Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	87	39	0.448276	NM_020340		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			G|0.789;A|0.211	0.211	strong		0.642	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138645228	G	A	138645228	2	1	23	1	0	0	0	0	0	0	0	1	8217	1103	39	1		1	KIAA1244	6	138645228	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1104805	138645228	32469839	1725	18181										
HEBP2	23593	hgsc.bcm.edu	37	chr6	138734029	138734029	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgtaggtctttcgatggAttttctagtgcccaaaagaa	9	7	2	1	rs2076279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:138734029A>C	ENST00000607197.1	+	4	709	c.432A>C	c.(430-432)ggA>ggC	p.G144G	HEBP2_ENST00000367697.3_Missense_Mutation_p.D105A|HEBP2_ENST00000448741.1_Missense_Mutation_p.D116A	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	144					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CTTTCGATGGATTTTCTAGTG	0.388													A|||	247	0.0493211	0.0514	0.0591	5008	,	,		21332	0.0982		0.0308	False		,,,				2504	0.0082				p.G144G		Atlas-SNP	.											.	HEBP2	12	.	0			c.A432C						PASS	.	A		150,4256	103.0+/-141.5	2,146,2055	152	144	147		432	2	1	6	dbSNP_96	147	183,8417	81.8+/-144.4	3,177,4120	no	coding-synonymous	HEBP2	NM_014320.2		5,323,6175	CC,CA,AA		2.1279,3.4044,2.5604		144/206	138734029	333,12673	2203	4300	6503	SO:0001819	synonymous_variant	23593	exon4			CGATGGATTTTCT	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.432A>C	6.37:g.138734029A>C		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	178	76	0.426966	NM_014320	Q96P57	Silent	SNP	ENST00000607197.1	37	CCDS5191.1	128	0.05860805860805861	23	0.046747967479674794	22	0.06077348066298342	66	0.11538461538461539	17	0.022427440633245383	A	13.17	2.156608	0.38119	0.034044	0.021279	ENSG00000051620	ENST00000448741;ENST00000367697	T;T	0.20463	2.07;2.07	5.75	2.03	0.26663	.	.	.	.	.	T	0.14270	0.0345	.	.	.	0.41933	P	0.009422000000000041	.	.	.	.	.	.	T	0.04930	-1.0917	5	0.56958	D	0.05	.	8.3223	0.32136	0.7686:0.0:0.2314:0.0	rs2076279;rs2076279	.	.	.	A	116;105	ENSP00000392101:D116A;ENSP00000356670:D105A	ENSP00000356670:D105A	D	+	2	0	HEBP2	138775722	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.028000	0.30128	0.458000	0.26988	-0.370000	0.07254	GAT	A|0.961;C|0.039	0.039	strong		0.388	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			C	138734029	A	C	138734029	2	2	23	1	0	0	0	0	0	0	0	1	7037	320	12	5		5	HEBP2	6	138734029	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	88801	138734029	32381038	1726	18182										
CCDC28A	25901	hgsc.bcm.edu	37	chr6	139094937	139094937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctgcggaggagcgggtcCcgggatgtgaccggggctct	20	10	1	1	rs11154999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:139094937C>T	ENST00000332797.6	+	1	281	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	42			S -> Y (in dbSNP:rs34538642).							autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGAGCGGGTCCCGGGATGTGA	0.637													C|||	115	0.0229633	0.0136	0.0591	5008	,	,		16196	0.001		0.0507	False		,,,				2504	0.0041				p.S42S		Atlas-SNP	.											.	CCDC28A	34	.	0			c.C126T						PASS	.	C		64,4342	59.3+/-96.0	0,64,2139	83	104	97		126	-4.1	0	6	dbSNP_120	97	348,8252	117.9+/-177.5	4,340,3956	no	coding-synonymous	CCDC28A	NM_015439.2		4,404,6095	TT,TC,CC		4.0465,1.4526,3.1678		42/275	139094937	412,12594	2203	4300	6503	SO:0001819	synonymous_variant	25901	exon1			CGGGTCCCGGGAT	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.126C>T	6.37:g.139094937C>T		Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	176	99	0.5625	NM_015439	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	CCDS5192.1																																																																																			C|0.970;T|0.030	0.030	strong		0.637	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		T	139094937	C	T	139094937	2	4	23	1	0	0	0	0	0	0	0	1	2802	610	22	2		2	CCDC28A	6	139094937	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	360908	139094937	32020130	1727	18183										
ECT2L	345930	hgsc.bcm.edu	37	chr6	139206937	139206937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaccactgcaattgaccaAatcaaaaaatataaaggtta	5	7	1	2	rs17067993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:139206937A>G	ENST00000423192.1	+	17	2390	c.2229A>G	c.(2227-2229)caA>caG	p.Q743Q	ECT2L_ENST00000367682.2_Silent_p.Q743Q|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	743	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAATTGACCAAATCAAAAAAT	0.413			"N, Splice, Mis"		ETP ALL								A|||	640	0.127796	0.2474	0.0346	5008	,	,		19865	0.2183		0.0209	False		,,,				2504	0.0491				p.Q743Q		Atlas-SNP	.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L	75	.	0			c.A2229G						PASS	.	A	,	710,3218		66,578,1320	59	60	59		2229,2229	0.5	0.7	6	dbSNP_123	59	161,8151		0,161,3995	no	coding-synonymous,coding-synonymous	ECT2L	NM_001077706.2,NM_001195037.2	,	66,739,5315	GG,GA,AA		1.937,18.0754,7.116	,	743/905,743/905	139206937	871,11369	1964	4156	6120	SO:0001819	synonymous_variant	345930	exon17			TGACCAAATCAAA		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2229A>G	6.37:g.139206937A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	91	41	0.450549	NM_001195037	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	CCDS43508.1																																																																																			A|0.902;G|0.098	0.098	strong		0.413	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		G	139206937	A	G	139206937	2	3	23	1	0	0	0	0	0	0	0	1	4902	11	1	2		2	ECT2L	6	139206937	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	112000	139206937	31908130	1728	18184										
REPS1	85021	hgsc.bcm.edu	37	chr6	139266402	139266402	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaatggcccaggtcccgcGagaggcctctcactattccc	9	16	1	1	rs1569238	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:139266402G>A	ENST00000450536.2	-	4	1156	c.582C>T	c.(580-582)ctC>ctT	p.L194L	REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000258062.5_Silent_p.L194L|REPS1_ENST00000367663.4_Silent_p.L194L|REPS1_ENST00000409812.2_Silent_p.L194L|REPS1_ENST00000415951.2_Silent_p.L194L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	194					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CAGGTCCCGCGAGAGGCCTCT	0.527													A|||	683	0.136382	0.2784	0.036	5008	,	,		15158	0.2183		0.0209	False		,,,				2504	0.0501				p.L194L		Atlas-SNP	.											REPS1,NS,carcinoma,0,1	REPS1	58	1	0			c.C582T						scavenged	.	A	,	907,3499	733.6+/-410.5	79,749,1375	56	54	54		582,582	2.1	1	6	dbSNP_88	54	174,8426	806.8+/-407.2	0,174,4126	no	coding-synonymous,coding-synonymous	REPS1	NM_001128617.1,NM_031922.3	,	79,923,5501	AA,AG,GG		2.0233,20.5856,8.3115	,	194/770,194/796	139266402	1081,11925	2203	4300	6503	SO:0001819	synonymous_variant	85021	exon4			TCCCGCGAGAGGC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.582C>T	6.37:g.139266402G>A		Somatic	110	3	0.0272727		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_001128617	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37																																																																																				G|0.897;A|0.103	0.103	strong		0.527	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			A	139266402	G	A	139266402	2	1	23	1	0	0	0	0	0	0	0	1	13228	1045	37	1		1	REPS1	6	139266402	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	59465	139266402	31848665	1729	18185										
PHACTR2	9749	hgsc.bcm.edu	37	chr6	144074943	144074943	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacgggcacatgatacccatCggagaggaatctacccgaga	11	11	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:144074943C>T	ENST00000427704.2	+	4	445	c.315C>T	c.(313-315)atC>atT	p.I105I	PHACTR2_ENST00000367584.4_Silent_p.I173I|PHACTR2_ENST00000440869.2_Silent_p.I116I|PHACTR2_ENST00000397980.3_Silent_p.I116I|PHACTR2_ENST00000305766.6_Silent_p.I105I|PHACTR2_ENST00000367582.3_Silent_p.I116I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	105							protein phosphatase inhibitor activity (GO:0004864)	p.I105I(1)|p.I116I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGATACCCATCGGAGAGGAAT	0.408																																					p.I116I	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	Atlas-SNP	.											PHACTR2_ENST00000440869,rectum,carcinoma,0,2	PHACTR2	99	2	2	Substitution - coding silent(2)	large_intestine(2)	c.C348T						scavenged	.						88	80	82					6																	144074943		1814	4082	5896	SO:0001819	synonymous_variant	9749	exon4			ACCCATCGGAGAG	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.315C>T	6.37:g.144074943C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	119	2	0.0168067	NM_001100165	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	CCDS47492.1																																																																																			.	.	none		0.408	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		T	144074943	C	T	144074943	2	4	23	1	0	0	0	0	0	0	0	1	11810	874	31	1		1	PHACTR2	6	144074943	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4808541	144074943	27040124	1730	18186										
FBXO30	84085	hgsc.bcm.edu	37	chr6	146126419	146126419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taagacatccacattcttcaCgtcccctaagtctacttttt	3	13	3	1	rs9373475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:146126419C>T	ENST00000237281.4	-	2	1289	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	375	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.		V -> M (in dbSNP:rs9373475). {ECO:0000269|Ref.3}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ACATTCTTCACGTCCCCTAAG	0.398													c|||	1649	0.329273	0.2549	0.232	5008	,	,		23522	0.2341		0.4105	False		,,,				2504	0.5133				p.V375M		Atlas-SNP	.											.	FBXO30	56	.	0			c.G1123A						PASS	.	T	MET/VAL	1117,3289	401.0+/-331.8	152,813,1238	159	151	153		1123	-3.2	0.2	6	dbSNP_119	153	3553,5047	516.6+/-378.9	728,2097,1475	yes	missense	FBXO30	NM_032145.4	21	880,2910,2713	TT,TC,CC		41.314,25.3518,35.9065	benign	375/746	146126419	4670,8336	2203	4300	6503	SO:0001583	missense	84085	exon2			TCTTCACGTCCCC	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1123G>A	6.37:g.146126419C>T	ENSP00000237281:p.Val375Met	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	192	94	0.489583	NM_032145	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	674	0.3086080586080586	125	0.2540650406504065	90	0.24861878453038674	149	0.26048951048951047	310	0.40897097625329815	c	4.167	0.029502	0.08054	0.253518	0.41314	ENSG00000118496	ENST00000237281	T	0.18810	2.19	5.46	-3.18	0.05186	.	0.133607	0.51477	N	0.000086	T	0.02193	0.0068	N	0.08118	0	0.80722	P	0.0	B	0.20261	0.043	B	0.12156	0.007	T	0.33650	-0.9860	9	0.56958	D	0.05	-0.0044	2.7703	0.05332	0.2489:0.2465:0.3853:0.1193	rs9373475;rs17822286;rs52794580;rs57120223;rs9373475	375	Q8TB52	FBX30_HUMAN	M	375	ENSP00000237281:V375M	ENSP00000237281:V375M	V	-	1	0	FBXO30	146168112	0.104000	0.21937	0.186000	0.23195	0.512000	0.34134	-0.321000	0.08018	-0.720000	0.04935	-1.033000	0.02402	GTG	C|0.663;N|0.000	.	strong		0.398	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			T	146126419	C	T	146126419	3	4	23	1	0	0	0	0	1	0	0	0	5740	536	19	1	1122	1	FBXO30	6	146126419	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2051476	146126419	24988648	1731	18187										
SASH1	23328	hgsc.bcm.edu	37	chr6	148841011	148841011	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggagatgaagaagggtctCgggtccctaagccacggggt	18	8	1	3	rs13196292	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:148841011C>T	ENST00000367467.3	+	10	1666	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	397					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGAAGGGTCTCGGGTCCCTAA	0.567													C|||	410	0.081869	0.0862	0.0403	5008	,	,		17258	0.0903		0.0736	False		,,,				2504	0.1053				p.L397L		Atlas-SNP	.											SASH1,NS,carcinoma,0,2	SASH1	123	2	0			c.C1191T						PASS	.	C		349,4051		13,323,1864	12	14	13		1191	-2.3	0.4	6	dbSNP_121	13	694,7886		31,632,3627	no	coding-synonymous	SASH1	NM_015278.3		44,955,5491	TT,TC,CC		8.0886,7.9318,8.0354		397/1248	148841011	1043,11937	2200	4290	6490	SO:0001819	synonymous_variant	23328	exon10			GGGTCTCGGGTCC	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1191C>T	6.37:g.148841011C>T		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	22	12	0.545455	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																			C|0.926;T|0.074	0.074	strong		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		T	148841011	C	T	148841011	2	4	23	1	0	0	0	0	0	0	0	1	13848	871	31	1		1	SASH1	6	148841011	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2714592	148841011	22274056	1732	18188										
LATS1	9113	hgsc.bcm.edu	37	chr6	149983216	149983216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctcaggtcactggagaaGtcaattgttttaaaaaatgg	10	5	3	1	rs3924871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:149983216G>A	ENST00000543571.1	-	8	3589	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	LATS1_ENST00000253339.5_Silent_p.D1014D	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CACTGGAGAAGTCAATTGTTT	0.373													A|||	2758	0.550719	0.5749	0.6326	5008	,	,		17648	0.8214		0.3588	False		,,,				2504	0.3783				p.D1014D		Atlas-SNP	.											.	LATS1	241	.	0			c.C3042T						PASS	.	A		2364,2042	567.4+/-382.1	638,1088,477	117	120	119		3042	3.1	1	6	dbSNP_108	119	3133,5467	657.0+/-401.4	552,2029,1719	no	coding-synonymous	LATS1	NM_004690.2		1190,3117,2196	AA,AG,GG		36.4302,46.3459,42.2651		1014/1131	149983216	5497,7509	2203	4300	6503	SO:0001819	synonymous_variant	9113	exon8			GGAGAAGTCAATT	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3042C>T	6.37:g.149983216G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	132	57	0.431818	NM_004690		Silent	SNP	ENST00000543571.1	37	CCDS34551.1																																																																																			G|0.512;A|0.488	0.488	strong		0.373	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		A	149983216	G	A	149983216	2	1	23	1	0	0	0	0	0	0	0	1	8646	1020	36	2		2	LATS1	6	149983216	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1142205	149983216	21131851	1733	18189										
PCMT1	5110	hgsc.bcm.edu	37	chr6	150114745	150114745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagagctagtagatgactcaGtaaataatgtcaggaaggac	11	5	2	3	rs4816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150114745G>A	ENST00000367380.5	+	5	565	c.358G>A	c.(358-360)Gta>Ata	p.V120I	RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000544496.1_Missense_Mutation_p.V85I|PCMT1_ENST00000367378.1_Missense_Mutation_p.V178I|PCMT1_ENST00000464889.1_Missense_Mutation_p.V178I|PCMT1_ENST00000367384.2_Missense_Mutation_p.V178I	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	120			V -> I (in dbSNP:rs4816). {ECO:0000269|PubMed:10496068, ECO:0000269|PubMed:1339271, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1998518, ECO:0000269|PubMed:21269460, ECO:0000269|Ref.11}.		protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AGATGACTCAGTAAATAATGT	0.368													A|||	3342	0.667332	0.9009	0.6715	5008	,	,		15072	0.8343		0.3678	False		,,,				2504	0.4847				p.V178I		Atlas-SNP	.											.	PCMT1	27	.	0			c.G532A	GRCh37	CM060415	PCMT1	M	rs4816	PASS	.	A	ILE/VAL	3507,899	344.9+/-308.3	1410,687,106	74	78	77		532	4.6	1	6	dbSNP_52	77	3210,5388	651.0+/-400.8	590,2030,1679	yes	missense	PCMT1	NM_005389.2	29	2000,2717,1785	AA,AG,GG		37.3343,20.404,48.3467	benign	178/286	150114745	6717,6287	2203	4299	6502	SO:0001583	missense	5110	exon5			GACTCAGTAAATA		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.358G>A	6.37:g.150114745G>A	ENSP00000356350:p.Val120Ile	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	174	96	0.551724	NM_005389	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37		1392	0.6373626373626373	437	0.8882113821138211	227	0.6270718232044199	460	0.8041958041958042	268	0.35356200527704484	A	11.22	1.575546	0.28092	0.79596	0.373343	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.41758	1.0;1.0;1.0;1.0;0.99;1.98	5.77	4.61	0.57282	.	0.077718	0.85682	N	0.000000	T	0.06735	0.0172	N	0.02379	-0.575	0.53688	P	2.599999999997049E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21245	-1.0251	9	0.22706	T	0.39	-15.8427	10.4629	0.44590	0.868:0.0:0.132:0.0	rs4816;rs1050644;rs3190977;rs11155687;rs17856263;rs52803050;rs58532082;rs4816	85;120;120	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	I	178;178;178;120;85;89	ENSP00000356354:V178I;ENSP00000356348:V178I;ENSP00000420813:V178I;ENSP00000356350:V120I;ENSP00000438247:V85I;ENSP00000418881:V89I	ENSP00000356348:V178I	V	+	1	0	PCMT1	150156438	0.980000	0.34600	1.000000	0.80357	0.990000	0.78478	2.084000	0.41625	0.453000	0.26858	-0.332000	0.08345	GTA	G|0.418;A|0.582	0.582	strong		0.368	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	150114745	G	A	150114745	3	1	23	1	0	0	0	0	1	0	0	0	11585	1029	36	2	550	2	PCMT1	6	150114745	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131529	150114745	21000322	1734	18190										
RAET1E	135250	hgsc.bcm.edu	37	chr6	150210681	150210681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagggatttctctccattgGtggcgaactgccaggatgca	14	9	1	0	rs9371533	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150210681G>A	ENST00000357183.4	-	3	557	c.425C>T	c.(424-426)aCc>aTc	p.T142I	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.T142I|RAET1E_ENST00000532335.1_Missense_Mutation_p.T142I|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.T106I	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	142	MHC class I alpha-2 like.		T -> I (in dbSNP:rs9371533).	AT -> TI (in Ref. 8; AAL76417). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCTCCATTGGTGGCGAACTG	0.468													N|||	3435	0.685903	0.8442	0.5447	5008	,	,		21656	0.8968		0.4324	False		,,,				2504	0.6155				p.T142I		Atlas-SNP	.											RAET1E,NS,carcinoma,+1,2	RAET1E	20	2	0			c.C425T						scavenged	.	A	ILE/THR	3478,928	353.3+/-312.1	1384,710,109	156	127	137		425	-1.8	0	6	dbSNP_119	137	3544,5056	631.0+/-398.4	742,2060,1498	yes	missense	RAET1E	NM_139165.2	89	2126,2770,1607	AA,AG,GG		41.2093,21.0622,46.0095	benign	142/264	150210681	7022,5984	2203	4300	6503	SO:0001583	missense	135250	exon3			CCATTGGTGGCGA	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.425C>T	6.37:g.150210681G>A	ENSP00000349709:p.Thr142Ile	Somatic	320	2	0.00625		WXS	Illumina HiSeq	Phase_I	305	137	0.44918	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	CCDS5221.1	1415	0.6478937728937729	397	0.806910569105691	200	0.5524861878453039	503	0.8793706293706294	315	0.4155672823218997	A	3.644	-0.072921	0.07228	0.789378	0.412093	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.06068	3.35;3.35;5.85;3.35	3.68	-1.75	0.08031	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.757356	0.11741	N	0.534006	T	0.00300	0.0009	N	0.00159	-1.955	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35847	-0.9772	9	0.07644	T	0.81	-6.9511	4.4433	0.11584	0.3415:0.3442:0.3142:0.0	rs9371533;rs59091272;rs9371533	142;106;142	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	I	142;142;106;142	ENSP00000437067:T142I;ENSP00000349709:T142I;ENSP00000356332:T106I;ENSP00000432366:T142I	ENSP00000349709:T142I	T	-	2	0	RAET1E	150252374	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.847000	0.27696	-0.637000	0.05516	-1.330000	0.01273	ACC	G|0.403;A|0.597	0.597	strong		0.468	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		A	150210681	G	A	150210681	3	1	23	1	0	0	0	0	1	0	0	0	12999	1261	44	2	374	2	RAET1E	6	150210681	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	95936	150210681	20904386	1735	18191										
RAET1E	135250	hgsc.bcm.edu	37	chr6	150210723	150210723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtgcaccgttctgcttcaCgttgacaaaacatctcgact	7	13	3	1	rs6925151	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150210723C>T	ENST00000357183.4	-	3	515	c.383G>A	c.(382-384)cGt>cAt	p.R128H	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.R128H|RAET1E_ENST00000532335.1_Missense_Mutation_p.R128H|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.R92H	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	128	MHC class I alpha-2 like.		R -> H (in dbSNP:rs6925151). {ECO:0000269|PubMed:11827464}.		antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTCTGCTTCACGTTGACAAAA	0.473													N|||	1603	0.320088	0.3873	0.3919	5008	,	,		21977	0.3343		0.2634	False		,,,				2504	0.2219				p.R128H		Atlas-SNP	.											.	RAET1E	20	.	0			c.G383A						PASS	.	C	HIS/ARG	1630,2776	501.8+/-365.1	307,1016,880	116	91	100		383	-7.3	0	6	dbSNP_116	100	2259,6341	381.7+/-340.1	287,1685,2328	yes	missense	RAET1E	NM_139165.2	29	594,2701,3208	TT,TC,CC		26.2674,36.995,29.9016	probably-damaging	128/264	150210723	3889,9117	2203	4300	6503	SO:0001583	missense	135250	exon3			GCTTCACGTTGAC	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.383G>A	6.37:g.150210723C>T	ENSP00000349709:p.Arg128His	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	260	106	0.407692	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	CCDS5221.1	704	0.32234432234432236	180	0.36585365853658536	140	0.3867403314917127	184	0.32167832167832167	200	0.2638522427440633	C	6.278	0.419453	0.11928	0.36995	0.262674	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.14266	2.52;2.52;5.82;2.52	3.68	-7.35	0.01422	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.760140	0.03138	N	0.166124	T	0.02119	0.0066	L	0.45137	1.4	0.80722	P	0.0	P;P;B	0.36712	0.566;0.511;0.268	B;B;B	0.28991	0.097;0.059;0.034	T	0.04178	-1.0971	9	0.34782	T	0.22	0.0031	3.9402	0.09323	0.1823:0.1457:0.0907:0.5813	rs6925151;rs52833814;rs57214334;rs6925151	128;92;128	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	H	128;128;92;128	ENSP00000437067:R128H;ENSP00000349709:R128H;ENSP00000356332:R92H;ENSP00000432366:R128H	ENSP00000349709:R128H	R	-	2	0	RAET1E	150252416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.205000	0.01232	-3.716000	0.00116	-1.421000	0.01109	CGT	C|0.693;T|0.307	0.307	strong		0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		T	150210723	C	T	150210723	3	4	23	1	0	0	0	0	1	0	0	0	12999	536	19	1	416	1	RAET1E	6	150210723	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42	150210723	20904344	1736	18192										
RAET1E	135250	hgsc.bcm.edu	37	chr6	150211100	150211100	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcccagcgtttgggtcaaTtctccccaagtgctggtggc	11	13	3	0	rs3798763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150211100T>C	ENST00000357183.4	-	2	399	c.267A>G	c.(265-267)gaA>gaG	p.E89E	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Silent_p.E89E|RAET1E_ENST00000532335.1_Silent_p.E89E|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Silent_p.E53E	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	89	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTTGGGTCAATTCTCCCCAAG	0.498													t|||	1122	0.224042	0.0386	0.3689	5008	,	,		20232	0.3333		0.2604	False		,,,				2504	0.2219				p.E89E		Atlas-SNP	.											.	RAET1E	20	.	0			c.A267G						PASS	.	T		302,4104	163.6+/-195.4	16,270,1917	116	107	110		267	-4.1	0	6	dbSNP_107	110	2245,6355	380.1+/-339.5	283,1679,2338	yes	coding-synonymous	RAET1E	NM_139165.2		299,1949,4255	CC,CT,TT		26.1047,6.8543,19.5833		89/264	150211100	2547,10459	2203	4300	6503	SO:0001819	synonymous_variant	135250	exon2			GGTCAATTCTCCC	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.267A>G	6.37:g.150211100T>C		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	189	99	0.52381	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	CCDS5221.1																																																																																			T|0.790;C|0.210	0.210	strong		0.498	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		C	150211100	T	C	150211100	2	2	23	1	0	0	0	0	0	0	0	1	12999	1490	52	2		2	RAET1E	6	150211100	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	377	150211100	20903967	1737	18193										
ULBP2	80328	hgsc.bcm.edu	37	chr6	150267527	150267527	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacccctcaccctgcaggcAaggatgtcttgtgagcagaa	11	12	2	2	rs2282235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150267527A>C	ENST00000367351.3	+	3	442	c.369A>C	c.(367-369)gcA>gcC	p.A123A		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	123	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCTGCAGGCAAGGATGTCTT	0.507													N|||	3467	0.692292	0.8638	0.5922	5008	,	,		20462	0.8046		0.5606	False		,,,				2504	0.5511				p.A123A		Atlas-SNP	.											.	ULBP2	22	.	0			c.A369C						PASS	.						98	94	95					6																	150267527		2203	4297	6500	SO:0001819	synonymous_variant	80328	exon3			GCAGGCAAGGATG	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.369A>C	6.37:g.150267527A>C		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	193	89	0.46114	NM_025217	Q5VUN4	Silent	SNP	ENST00000367351.3	37	CCDS5222.1																																																																																			A|0.889;C|0.111	0.111	strong		0.507	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			C	150267527	A	C	150267527	2	2	23	1	0	0	0	0	0	0	0	1	16970	117	5	5		5	ULBP2	6	150267527	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	56427	150267527	20847540	1738	18194										
ULBP3	79465	hgsc.bcm.edu	37	chr6	150390118	150390118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatccccgaactcaccggCccgccccgtcccggaccagt	8	22	1	0	rs113233347	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:150390118C>T	ENST00000367339.2	-	1	113	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	ULBP3_ENST00000438272.2_Missense_Mutation_p.A29T			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	29					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.A29T(1)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AACTCACCGGCCCGCCCCGTC	0.677													C|||	338	0.067492	0.0061	0.072	5008	,	,		10072	0.0804		0.1024	False		,,,				2504	0.0982				p.A29T		Atlas-SNP	.											ULBP3,NS,carcinoma,0,1	ULBP3	22	1	1	Substitution - Missense(1)	pancreas(1)	c.G85A						PASS	.	C	THR/ALA	93,4305		4,85,2110	14	18	17		85	-0.6	0	6	dbSNP_132	17	997,7589		50,897,3346	yes	missense	ULBP3	NM_024518.1	58	54,982,5456	TT,TC,CC		11.6119,2.1146,8.3949	benign	29/245	150390118	1090,11894	2199	4293	6492	SO:0001583	missense	79465	exon1			CACCGGCCCGCCC	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.85G>A	6.37:g.150390118C>T	ENSP00000356308:p.Ala29Thr	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	186	98	0.526882	NM_024518	Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	CCDS5225.1	153	0.07005494505494506	5	0.01016260162601626	30	0.08287292817679558	47	0.08216783216783216	71	0.09366754617414248	C	9.603	1.129290	0.21041	0.021146	0.116119	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00724	5.78;5.78	0.467	-0.6	0.11642	.	.	.	.	.	T	0.00241	0.0007	L	0.38838	1.175	0.80722	P	0.0	B;B	0.33212	0.402;0.402	B;B	0.26864	0.074;0.074	T	0.37798	-0.9690	7	0.38643	T	0.18	.	.	.	.	.	29;29	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	T	29	ENSP00000356308:A29T;ENSP00000403562:A29T	ENSP00000253335:A29T	A	-	1	0	ULBP3	150431811	0.000000	0.05858	0.004000	0.12327	0.087000	0.18053	-0.305000	0.08188	-0.397000	0.07691	0.205000	0.17691	GCC	C|0.925;T|0.075	0.075	strong		0.677	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			T	150390118	C	T	150390118	3	4	23	1	0	0	0	0	1	0	0	0	16971	739	26	2	664	2	ULBP3	6	150390118	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	122591	150390118	20724949	1739	18195										
PLEKHG1	57480	hgsc.bcm.edu	37	chr6	151121915	151121915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggccaaattcttcagggaGcgtcaggaaactctgaaaca	10	10	4	1	rs2073061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:151121915G>A	ENST00000358517.2	+	6	901	c.690G>A	c.(688-690)gaG>gaA	p.E230E	PLEKHG1_ENST00000367328.1_Silent_p.E230E			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	230	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTTCAGGGAGCGTCAGGAAA	0.453													A|||	3269	0.652756	0.8011	0.5216	5008	,	,		19189	0.8046		0.4841	False		,,,				2504	0.5624				p.E230E		Atlas-SNP	.											PLEKHG1,NS,adenoma,0,1	PLEKHG1	97	1	0			c.G690A						PASS	.	A		3297,1109	399.0+/-331.0	1245,807,151	126	124	124		690	-6.9	0.6	6	dbSNP_96	124	4075,4525	594.4+/-393.3	1008,2059,1233	no	coding-synonymous	PLEKHG1	NM_001029884.1		2253,2866,1384	AA,AG,GG		47.3837,25.1702,43.3185		230/1386	151121915	7372,5634	2203	4300	6503	SO:0001819	synonymous_variant	57480	exon7			CAGGGAGCGTCAG	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.690G>A	6.37:g.151121915G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	166	87	0.524096	NM_001029884	Q5T1F2	Silent	SNP	ENST00000358517.2	37	CCDS34552.1																																																																																			G|0.393;A|0.607	0.607	strong		0.453	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			A	151121915	G	A	151121915	2	1	23	1	0	0	0	0	0	0	0	1	12068	962	34	2		2	PLEKHG1	6	151121915	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	731797	151121915	19993152	1740	18196										
C6orf97	80129	hgsc.bcm.edu	37	chr6	151936677	151936677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgagaaaaagctcatgtctGtcaagtcagaactggatacc	9	9	4	2	rs6929137	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:151936677G>A	ENST00000239374.7	+	10	1909	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.V611I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	604			V -> I (in dbSNP:rs6929137). {ECO:0000269|PubMed:14702039}.														GCTCATGTCTGTCAAGTCAGA	0.393													G|||	1750	0.349441	0.4962	0.245	5008	,	,		18841	0.3333		0.2952	False		,,,				2504	0.2975				p.V604I		Atlas-SNP	.											.	.	.	.	0			c.G1810A						PASS	.	G	ILE/VAL	1842,1882		458,926,478	149	144	145	http://www.ncbi.nlm.nih.gov/pubmed?term	1810	3.4	0.5	6	dbSNP_116	145	2695,5513		467,1761,1876	yes	missense	C6orf97	NM_025059.3	29	925,2687,2354	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	32.8338,49.4629,38.0238	benign	604/716	151936677	4537,7395	1862	4104	5966	SO:0001583	missense	80129	exon10			ATGTCTGTCAAGT	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.1810G>A	6.37:g.151936677G>A	ENSP00000239374:p.Val604Ile	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	174	82	0.471264	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	744	0.34065934065934067	251	0.5101626016260162	97	0.26795580110497236	181	0.31643356643356646	215	0.2836411609498681	G	10.50	1.368391	0.24771	0.494629	0.328338	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.76060	3.03;-0.99	6.16	3.37	0.38596	.	0.296403	0.31392	N	0.007735	T	0.45875	0.1364	L	0.42686	1.345	0.28753	P	0.9013056	B	0.18166	0.026	B	0.16289	0.015	T	0.28073	-1.0055	9	0.24483	T	0.36	-5.1069	9.8684	0.41160	0.126:0.1149:0.7591:0.0	rs6929137;rs57948778;rs6929137	604	Q8IYT3	CF097_HUMAN	I	604;611	ENSP00000239374:V604I;ENSP00000356259:V611I	ENSP00000239374:V604I	V	+	1	0	C6orf97	151978370	0.662000	0.27439	0.486000	0.27416	0.575000	0.36095	1.023000	0.30065	0.910000	0.36722	-0.145000	0.13849	GTC	G|0.655;A|0.345	0.345	strong		0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		A	151936677	G	A	151936677	3	1	23	1	0	0	0	0	1	0	0	0	2374	1377	48	2	1848	2	C6orf97	6	151936677	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	814762	151936677	19178390	1741	18197										
C6orf97	80129	hgsc.bcm.edu	37	chr6	151939181	151939181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaagtgtcttgaaagattgGtccattcacatcagcatcac	7	10	5	2	rs3734804	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:151939181G>A	ENST00000239374.7	+	11	2146	c.2047G>A	c.(2047-2049)Gtc>Atc	p.V683I	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.V690I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	683			V -> I (in dbSNP:rs3734804). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.														TGAAAGATTGGTCCATTCACA	0.488													A|||	2662	0.53155	0.7564	0.3804	5008	,	,		19217	0.4276		0.504	False		,,,				2504	0.4703				p.V683I		Atlas-SNP	.											.	.	.	.	0			c.G2047A						PASS	.	A	ILE/VAL	3060,990		1164,732,129	127	129	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2047	3.5	1	6	dbSNP_107	128	4451,3891		1199,2053,919	yes	missense	C6orf97	NM_025059.3	29	2363,2785,1048	AA,AG,GG		46.6435,24.4444,39.3883	benign	683/716	151939181	7511,4881	2025	4171	6196	SO:0001583	missense	80129	exon11			AGATTGGTCCATT	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.2047G>A	6.37:g.151939181G>A	ENSP00000239374:p.Val683Ile	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	203	75	0.369458	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	1098	0.5027472527472527	356	0.7235772357723578	146	0.40331491712707185	229	0.40034965034965037	367	0.4841688654353562	A	2.969	-0.212916	0.06140	0.755556	0.533565	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.04809	3.56;3.55	5.96	3.55	0.40652	.	0.220933	0.41396	N	0.000881	T	0.00271	0.0008	N	0.00119	-2.075	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.41928	-0.9481	9	0.02654	T	1	-11.5196	7.4255	0.27096	0.7528:0.1208:0.1264:0.0	rs3734804;rs17855719;rs52806953;rs57580983;rs3734804	683	Q8IYT3	CF097_HUMAN	I	683;690	ENSP00000239374:V683I;ENSP00000356259:V690I	ENSP00000239374:V683I	V	+	1	0	C6orf97	151980874	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	1.248000	0.32827	0.146000	0.19002	-0.254000	0.11334	GTC	G|0.473;A|0.527	0.527	strong		0.488	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		A	151939181	G	A	151939181	3	1	23	1	0	0	0	0	1	0	0	0	2374	1261	44	2	2089	2	C6orf97	6	151939181	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2504	151939181	19175886	1742	18198										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152529260	152529260	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcgaatctggctgtcaatGatcccccgcctctgctgggc	12	14	3	1	rs3798756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:152529260G>A	ENST00000367255.5	-	125	23272	c.22671C>T	c.(22669-22671)atC>atT	p.I7557I	SYNE1_ENST00000356820.4_Silent_p.I2081I|SYNE1_ENST00000341594.5_Silent_p.I7169I|SYNE1_ENST00000265368.4_Silent_p.I7557I|SYNE1_ENST00000448038.1_Silent_p.I7486I|SYNE1_ENST00000423061.1_Silent_p.I7486I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7557					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTGTCAATGATCCCCCGCC	0.502										HNSCC(10;0.0054)			G|||	777	0.155152	0.1067	0.2378	5008	,	,		15324	0.2133		0.1272	False		,,,				2504	0.1309				p.I7557I		Atlas-SNP	.											.	SYNE1	3227	.	0			c.C22671T						PASS	.	G	,	524,3882	241.5+/-251.9	22,480,1701	96	88	91		22458,22671	5.6	1	6	dbSNP_107	91	1153,7447	237.1+/-269.0	76,1001,3223	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	98,1481,4924	AA,AG,GG		13.407,11.8929,12.894	,	7486/8750,7557/8798	152529260	1677,11329	2203	4300	6503	SO:0001819	synonymous_variant	23345	exon125			GTCAATGATCCCC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22671C>T	6.37:g.152529260G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	97	52	0.536082	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			G|0.854;A|0.146	0.146	strong		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152529260	G	A	152529260	2	1	23	1	0	0	0	0	0	0	0	1	15442	1280	45	2		2	SYNE1	6	152529260	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	590079	152529260	18585807	1743	18199										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152712440	152712440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgacagccgtttctccaggGtgtctttgctcccaagagtg	12	11	2	2	rs117480635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:152712440G>T	ENST00000367255.5	-	52	8577	c.7976C>A	c.(7975-7977)aCc>aAc	p.T2659N	SYNE1_ENST00000341594.5_Missense_Mutation_p.T2698N|SYNE1_ENST00000265368.4_Missense_Mutation_p.T2659N|SYNE1_ENST00000448038.1_Missense_Mutation_p.T2666N|SYNE1_ENST00000423061.1_Missense_Mutation_p.T2666N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2659					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTCCAGGGTGTCTTTGCT	0.507										HNSCC(10;0.0054)			G|||	8	0.00159744	0.0	0.0	5008	,	,		15514	0.0		0.006	False		,,,				2504	0.002				p.T2666N		Atlas-SNP	.											.	SYNE1	3227	.	0			c.C7997A						PASS	.	G	ASN/THR,ASN/THR	4,4402	8.1+/-20.4	0,4,2199	109	104	106		7997,7976	5	0	6	dbSNP_132	106	30,8570	20.4+/-63.3	0,30,4270	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	65,65	0,34,6469	TT,TG,GG		0.3488,0.0908,0.2614	possibly-damaging,possibly-damaging	2666/8750,2659/8798	152712440	34,12972	2203	4300	6503	SO:0001583	missense	23345	exon52			TCCAGGGTGTCTT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7976C>A	6.37:g.152712440G>T	ENSP00000356224:p.Thr2659Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	9.754	1.168155	0.21621	9.08E-4	0.003488	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54279	0.67;0.67;0.58;0.67;0.79	5.91	5.04	0.67666	.	0.341353	0.25419	N	0.030816	T	0.31638	0.0803	M	0.62723	1.935	0.24214	N	0.995468	P;B;B;P	0.39696	0.612;0.413;0.413;0.683	B;B;B;B	0.40602	0.203;0.179;0.179;0.334	T	0.19095	-1.0316	10	0.17832	T	0.49	.	11.5958	0.50972	0.1855:0.0:0.8145:0.0	.	2642;2659;2659;2666	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2659;2666;2659;2666;2698	ENSP00000356224:T2659N;ENSP00000396024:T2666N;ENSP00000265368:T2659N;ENSP00000390975:T2666N;ENSP00000341887:T2698N	ENSP00000265368:T2659N	T	-	2	0	SYNE1	152754133	0.997000	0.39634	0.010000	0.14722	0.702000	0.40608	3.098000	0.50259	1.500000	0.48636	0.655000	0.94253	ACC	G|0.998;T|0.002	0.002	strong		0.507	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152712440	G	T	152712440	3	4	23	1	0	0	0	0	1	0	0	0	15442	1261	44	4	18870	4	SYNE1	6	152712440	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	183180	152712440	18402627	1744	18200										
CNKSR3	154043	hgsc.bcm.edu	37	chr6	154763401	154763401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagaaccaagttcttcatGttatcagtttcgaggccata	7	9	4	1	rs6557351	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:154763401G>A	ENST00000607772.1	-	3	784	c.240C>T	c.(238-240)aaC>aaT	p.N80N	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	80	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.N80N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGTTCTTCATGTTATCAGTTT	0.428													A|||	1879	0.3752	0.6203	0.3602	5008	,	,		20916	0.2857		0.2445	False		,,,				2504	0.2812				p.N80N		Atlas-SNP	.											CNKSR3,NS,carcinoma,0,1	CNKSR3	56	1	1	Substitution - coding silent(1)	stomach(1)	c.C240T						PASS	.	A		2556,1850	535.8+/-374.3	725,1106,372	78	85	83		240	-11.1	0	6	dbSNP_116	83	1730,6870	736.2+/-407.0	175,1380,2745	no	coding-synonymous	CNKSR3	NM_173515.2		900,2486,3117	AA,AG,GG		20.1163,41.9882,32.954		80/556	154763401	4286,8720	2203	4300	6503	SO:0001819	synonymous_variant	154043	exon3			CTTCATGTTATCA	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.240C>T	6.37:g.154763401G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	83	38	0.457831	NM_173515	Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	CCDS5246.1																																																																																			G|0.660;A|0.340	0.340	strong		0.428	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		A	154763401	G	A	154763401	2	1	23	1	0	0	0	0	0	0	0	1	3608	1368	48	2		2	CNKSR3	6	154763401	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2050961	154763401	16351666	1745	18201										
TIAM2	26230	hgsc.bcm.edu	37	chr6	155451352	155451352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatgccagcctgagcaaccGtgtctcttttgcttccgaca	9	14	1	1	rs931312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:155451352G>A	ENST00000461783.3	+	6	2268	c.995G>A	c.(994-996)cGt>cAt	p.R332H	TIAM2_ENST00000318981.5_Missense_Mutation_p.R332H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R332H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R332H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R332H|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	332			R -> H (in dbSNP:rs931312).		apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGCAACCGTGTCTCTTTT	0.577													G|||	1178	0.235224	0.0711	0.2464	5008	,	,		19702	0.3026		0.175	False		,,,				2504	0.4417				p.R332H		Atlas-SNP	.											.	TIAM2	161	.	0			c.G995A						PASS	.	G	HIS/ARG	496,3910	230.1+/-244.4	30,436,1737	83	79	81		995	5	0.4	6	dbSNP_86	81	1567,7033	293.5+/-301.4	137,1293,2870	yes	missense	TIAM2	NM_012454.3	29	167,1729,4607	AA,AG,GG		18.2209,11.2574,15.8619	probably-damaging	332/1702	155451352	2063,10943	2203	4300	6503	SO:0001583	missense	26230	exon3			GCAACCGTGTCTC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.995G>A	6.37:g.155451352G>A	ENSP00000437188:p.Arg332His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	37	0.544118	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	440	0.20146520146520147	41	0.08333333333333333	86	0.23756906077348067	194	0.33916083916083917	119	0.15699208443271767	G	15.18	2.757389	0.49468	0.112574	0.182209	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.08282	3.22;3.11;3.2;3.22;3.24;3.2	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.72118	2.19	0.09310	P	1.0	D	0.89917	1.0	D	0.78314	0.991	T	0.00800	-1.1561	9	0.40728	T	0.16	.	16.8516	0.85995	0.0:0.0:1.0:0.0	rs931312;rs56418104;rs57922078;rs931312	332	Q8IVF5	TIAM2_HUMAN	H	332;578;332;332;332;332;332	ENSP00000437188:R332H;ENSP00000434901:R332H;ENSP00000407746:R332H;ENSP00000327315:R332H;ENSP00000353528:R332H;ENSP00000433348:R332H	ENSP00000327315:R332H	R	+	2	0	TIAM2	155493044	1.000000	0.71417	0.427000	0.26684	0.008000	0.06430	7.136000	0.77285	2.489000	0.83994	0.655000	0.94253	CGT	G|0.815;A|0.185	0.185	strong		0.577	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155451352	G	A	155451352	3	1	23	1	0	0	0	0	1	0	0	0	15888	1145	40	1	997	1	TIAM2	6	155451352	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	687951	155451352	15663715	1746	18202										
TIAM2	26230	hgsc.bcm.edu	37	chr6	155577823	155577823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccggcttggcagattttgcCgacaatctcatcaaagagag	10	11	2	2	rs1571766	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:155577823C>T	ENST00000461783.3	+	29	5947	c.4674C>T	c.(4672-4674)gcC>gcT	p.A1558A	TIAM2_ENST00000528391.2_Silent_p.A902A|TIAM2_ENST00000318981.5_Silent_p.A1558A|TIAM2_ENST00000360366.4_Silent_p.A1582A|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456144.1_Silent_p.A1587A|TIAM2_ENST00000529824.2_Silent_p.A1587A|TIAM2_ENST00000456877.2_Silent_p.A870A|TIAM2_ENST00000367174.2_Silent_p.A934A|TIAM2_ENST00000275246.7_Silent_p.A483A			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1558					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGATTTTGCCGACAATCTCA	0.567													c|||	3748	0.748403	0.7179	0.7522	5008	,	,		18421	0.9851		0.5954	False		,,,				2504	0.7004				p.A1558A		Atlas-SNP	.											.	TIAM2	161	.	0			c.C4674T						PASS	.	T	,,	3127,1279	697.4+/-406.2	1102,923,178	48	49	49		1449,4674,	-11.7	0	6	dbSNP_88	49	5116,3484	632.2+/-398.6	1530,2056,714	no	coding-synonymous,coding-synonymous,utr-3	TIAM2,TFB1M	NM_001010927.2,NM_012454.3,NM_016020.3	,,	2632,2979,892	TT,TC,CC		40.5116,29.0286,36.6216	,,	483/627,1558/1702,	155577823	8243,4763	2203	4300	6503	SO:0001819	synonymous_variant	26230	exon26			TTTTGCCGACAAT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4674C>T	6.37:g.155577823C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	174	91	0.522988	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																			C|0.328;T|0.672	0.672	strong		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155577823	C	T	155577823	2	4	23	1	0	0	0	0	0	0	0	1	15888	639	23	1		1	TIAM2	6	155577823	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126471	155577823	15537244	1747	18203										
NOX3	50508	hgsc.bcm.edu	37	chr6	155761246	155761246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccggtgacgcctgctattGtccttagcaattcagtggtt	11	10	1	1	rs3749930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:155761246G>T	ENST00000159060.2	-	6	614	c.512C>A	c.(511-513)aCa>aAa	p.T171K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	171	Ferric oxidoreductase.		T -> K (in dbSNP:rs3749930).		detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GCCTGCTATTGTCCTTAGCAA	0.393													G|||	989	0.197484	0.0734	0.1873	5008	,	,		17556	0.4821		0.0527	False		,,,				2504	0.228				p.T171K		Atlas-SNP	.											.	NOX3	93	.	0			c.C512A						PASS	.	G	LYS/THR	313,4093	165.1+/-196.6	8,297,1898	102	100	101		512	5.8	0.2	6	dbSNP_107	101	367,8233	121.3+/-180.4	3,361,3936	yes	missense	NOX3	NM_015718.2	78	11,658,5834	TT,TG,GG		4.2674,7.1039,5.2284	probably-damaging	171/569	155761246	680,12326	2203	4300	6503	SO:0001583	missense	50508	exon6			GCTATTGTCCTTA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.512C>A	6.37:g.155761246G>T	ENSP00000159060:p.Thr171Lys	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	430	0.19688644688644688	28	0.056910569105691054	53	0.1464088397790055	301	0.5262237762237763	48	0.0633245382585752	G	22.4	4.284765	0.80803	0.071039	0.042674	ENSG00000074771	ENST00000159060	D	0.95756	-3.8	5.79	5.79	0.91817	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000004	D	0.95965	0.8686	M	0.74467	2.265	0.25165	P	0.99032905	D	0.58268	0.982	P	0.57620	0.824	D	0.95255	0.8363	9	0.41790	T	0.15	-21.7527	13.3132	0.60393	0.072:0.0:0.928:0.0	rs3749930;rs59445351;rs3749930	171	Q9HBY0	NOX3_HUMAN	K	171	ENSP00000159060:T171K	ENSP00000159060:T171K	T	-	2	0	NOX3	155802938	1.000000	0.71417	0.154000	0.22540	0.132000	0.20833	5.010000	0.64004	2.757000	0.94681	0.644000	0.83932	ACA	G|0.878;T|0.122	0.122	strong		0.393	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			T	155761246	G	T	155761246	3	4	23	1	0	0	0	0	1	0	0	0	10557	1377	48	4	1226	4	NOX3	6	155761246	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	183423	155761246	15353821	1748	18204										
SYNJ2	8871	hgsc.bcm.edu	37	chr6	158502527	158502527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggctctcagtgtcctggaCgtggacggtatgaaggtacg	15	9	1	1	rs1744177	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:158502527C>T	ENST00000355585.4	+	20	2925	c.2850C>T	c.(2848-2850)gaC>gaT	p.D950D	SYNJ2_ENST00000367112.1_Silent_p.D35D|SYNJ2_ENST00000367122.2_Silent_p.D950D|SYNJ2_ENST00000367121.3_Silent_p.D950D	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	950	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGTCCTGGACGTGGACGGTA	0.502													C|||	332	0.0662939	0.0923	0.049	5008	,	,		17254	0.001		0.1004	False		,,,				2504	0.0757				p.D950D		Atlas-SNP	.											.	SYNJ2	111	.	0			c.C2850T						PASS	.	C	,	474,3932	223.3+/-239.8	25,424,1754	122	95	104		2139,2850	-6.9	0.8	6	dbSNP_89	104	909,7691	202.4+/-245.7	53,803,3444	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	78,1227,5198	TT,TC,CC		10.5698,10.7581,10.6336	,	713/1260,950/1497	158502527	1383,11623	2203	4300	6503	SO:0001819	synonymous_variant	8871	exon20			CCTGGACGTGGAC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2850C>T	6.37:g.158502527C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	144	73	0.506944	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																			C|0.911;T|0.089	0.089	strong		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158502527	C	T	158502527	2	4	23	1	0	0	0	0	0	0	0	1	15450	535	19	1		1	SYNJ2	6	158502527	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2741281	158502527	12612540	1749	18205										
SYNJ2	8871	hgsc.bcm.edu	37	chr6	158516882	158516882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaccacctctggaggcgcCgcctcttgtgcccaaggtac	11	17	2	0	rs137935231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:158516882C>T	ENST00000355585.4	+	27	4052	c.3977C>T	c.(3976-3978)cCg>cTg	p.P1326L	SYNJ2_ENST00000367112.1_Missense_Mutation_p.P411L|SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1281L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1326	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGGAGGCGCCGCCTCTTGTG	0.657																																					p.P1326L		Atlas-SNP	.											.	SYNJ2	111	.	0			c.C3977T						PASS	.	C	LEU/PRO,LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	42	50	48		3266,3977	2.8	0	6	dbSNP_134	48	23,8577	16.6+/-54.9	1,21,4278	yes	missense,missense	SYNJ2	NM_001178088.1,NM_003898.3	98,98	1,26,6476	TT,TC,CC		0.2674,0.1135,0.2153	benign,benign	1089/1260,1326/1497	158516882	28,12978	2203	4300	6503	SO:0001583	missense	8871	exon27			AGGCGCCGCCTCT	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3977C>T	6.37:g.158516882C>T	ENSP00000347792:p.Pro1326Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	59	30	0.508475	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185571	0.38609	0.001135	0.002674	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.93133	-3.17;-3.16;0.83	5.57	2.76	0.32466	.	0.687143	0.13870	N	0.357073	T	0.79516	0.4459	L	0.55481	1.735	0.09310	N	1	B;P	0.48998	0.066;0.918	B;B	0.35510	0.01;0.204	T	0.67898	-0.5551	10	0.25106	T	0.35	.	9.5075	0.39056	0.0:0.7068:0.0:0.2932	.	721;1326	B4DLC4;O15056	.;SYNJ2_HUMAN	L	1281;1326;411	ENSP00000356089:P1281L;ENSP00000347792:P1326L;ENSP00000356079:P411L	ENSP00000347792:P1326L	P	+	2	0	SYNJ2	158436870	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-1.335000	0.02241	-2.210000	0.00300	CCG	C|0.997;T|0.003	0.003	strong		0.657	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158516882	C	T	158516882	3	4	23	1	0	0	0	0	1	0	0	0	15450	652	23	1	4083	1	SYNJ2	6	158516882	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14355	158516882	12598185	1750	18206										
SERAC1	84947	hgsc.bcm.edu	37	chr6	158571611	158571611	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaacttcatatgtaagaaAtaaagaacctcttaaagaga	6	6	2	4	rs112780453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:158571611A>T	ENST00000367104.3	-	4	270	c.139T>A	c.(139-141)Ttt>Att	p.F47I	SERAC1_ENST00000367102.2_Missense_Mutation_p.F47I|SERAC1_ENST00000367101.1_Missense_Mutation_p.F47I|SERAC1_ENST00000607000.1_Missense_Mutation_p.F47I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	47				F -> L (in Ref. 3; AAH28594). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TATGTAAGAAATAAAGAACCT	0.328													A|||	55	0.0109824	0.0113	0.0317	5008	,	,		18723	0.0		0.0119	False		,,,				2504	0.0061				p.F47I		Atlas-SNP	.											.	SERAC1	31	.	0			c.T139A						PASS	.	A	ILE/PHE	91,4315	68.1+/-105.8	2,87,2114	74	80	78		139	5.9	1	6	dbSNP_132	78	182,8408	75.7+/-138.4	2,178,4115	yes	missense	SERAC1	NM_032861.3	21	4,265,6229	TT,TA,AA		2.1187,2.0654,2.1006	probably-damaging	47/655	158571611	273,12723	2203	4295	6498	SO:0001583	missense	84947	exon4			TAAGAAATAAAGA	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.139T>A	6.37:g.158571611A>T	ENSP00000356071:p.Phe47Ile	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_032861	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	23	0.010531135531135532	7	0.014227642276422764	10	0.027624309392265192	0	0.0	6	0.0079155672823219	A	31	5.070022	0.93950	0.020654	0.021187	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41065	1.01;1.01;1.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.73598	2.24	0.53688	D	0.999972	D	0.61080	0.989	P	0.57009	0.811	T	0.53767	-0.8392	10	0.56958	D	0.05	-25.755	15.3295	0.74196	1.0:0.0:0.0:0.0	.	47	Q96JX3	SRAC1_HUMAN	I	47	ENSP00000356069:F47I;ENSP00000356071:F47I;ENSP00000356068:F47I	ENSP00000356068:F47I	F	-	1	0	SERAC1	158491599	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.614000	0.82996	0.488000	0.27723	-0.263000	0.10527	TTT	A|0.981;T|0.019	0.019	strong		0.328	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		T	158571611	A	T	158571611	3	4	23	1	0	0	0	0	1	0	0	0	14074	101	4	5	1881	5	SERAC1	6	158571611	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	54729	158571611	12543456	1751	18207										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159398633	159398633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcatcttgccctaagagTtctctctcttccataaactt	3	13	5	1	rs3756988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159398633T>C	ENST00000252655.1	-	8	1809	c.1620A>G	c.(1618-1620)gaA>gaG	p.E540E	RSPH3_ENST00000297262.3_Silent_p.E444E|RSPH3_ENST00000367069.2_Silent_p.E398E|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000449822.1_Silent_p.E302E	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	540								p.E540E(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCCCTAAGAGTTCTCTCTCTT	0.448													C|||	1064	0.21246	0.0651	0.3746	5008	,	,		18032	0.3919		0.1034	False		,,,				2504	0.2239				p.E540E		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - coding silent(1)	stomach(1)	c.A1620G						PASS	.	C		404,4002	788.9+/-415.0	12,380,1811	261	246	251		1620	-5.7	0	6	dbSNP_107	251	926,7674	777.0+/-407.7	61,804,3435	no	coding-synonymous	RSPH3	NM_031924.4		73,1184,5246	CC,CT,TT		10.7674,9.1693,10.226		540/561	159398633	1330,11676	2203	4300	6503	SO:0001819	synonymous_variant	83861	exon8			TAAGAGTTCTCTC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1620A>G	6.37:g.159398633T>C		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	162	76	0.469136	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	CCDS5260.1																																																																																			T|0.844;C|0.156	0.156	strong		0.448	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		C	159398633	T	C	159398633	2	2	23	1	0	0	0	0	0	0	0	1	13705	1722	60	2		2	RSPH3	6	159398633	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	827022	159398633	11716434	1752	18208										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159398700	159398700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgttgttctttgtaggtagCctccatctaaaagcagctcc	8	10	2	0	rs3756987	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159398700C>T	ENST00000252655.1	-	8	1742	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D	RSPH3_ENST00000297262.3_Missense_Mutation_p.G422D|RSPH3_ENST00000367069.2_Missense_Mutation_p.G376D|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000449822.1_Missense_Mutation_p.G280D	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	518			G -> D (in dbSNP:rs3756987).					p.G518D(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTGTAGGTAGCCTCCATCTAA	0.488													T|||	1064	0.21246	0.0651	0.3746	5008	,	,		16377	0.3919		0.1034	False		,,,				2504	0.2239				p.G518D		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.G1553A						PASS	.	T	ASP/GLY	404,4002	788.9+/-415.0	12,380,1811	198	185	190		1553	2.8	0	6	dbSNP_107	190	926,7674	777.0+/-407.7	61,804,3435	yes	missense	RSPH3	NM_031924.4	94	73,1184,5246	TT,TC,CC		10.7674,9.1693,10.226	benign	518/561	159398700	1330,11676	2203	4300	6503	SO:0001583	missense	83861	exon8			AGGTAGCCTCCAT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1553G>A	6.37:g.159398700C>T	ENSP00000252655:p.Gly518Asp	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	166	74	0.445783	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	469	0.21474358974358973	33	0.06707317073170732	109	0.3011049723756906	244	0.42657342657342656	83	0.10949868073878628	T	0.023	-1.405423	0.01155	0.091693	0.107674	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.10382	2.91;2.92;2.89;2.88	3.96	2.75	0.32379	.	0.930568	0.08825	N	0.888160	T	0.00695	0.0023	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47235	-0.9133	9	0.05833	T	0.94	-0.913	3.7359	0.08510	0.1874:0.109:0.0:0.7036	rs3756987;rs59000492;rs3756987	422;518	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	D	376;280;518;422	ENSP00000356036:G376D;ENSP00000393195:G280D;ENSP00000252655:G518D;ENSP00000297262:G422D	ENSP00000252655:G518D	G	-	2	0	RSPH3	159318688	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.408000	0.34668	0.060000	0.16281	-0.893000	0.02921	GGC	C|0.842;T|0.158	0.158	strong		0.488	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159398700	C	T	159398700	3	4	23	1	0	0	0	0	1	0	0	0	13705	739	26	2	133	2	RSPH3	6	159398700	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	67	159398700	11716367	1753	18209										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159398764	159398764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaattcagaggcctccaGtgactctgtcattgctccag	10	12	3	2	rs12191022	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159398764G>A	ENST00000252655.1	-	8	1678	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	RSPH3_ENST00000297262.3_Silent_p.L401L|RSPH3_ENST00000367069.2_Silent_p.L355L|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000449822.1_Silent_p.L259L	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	497								p.L497L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GAGGCCTCCAGTGACTCTGTC	0.507													G|||	993	0.198283	0.0582	0.3429	5008	,	,		15899	0.3919		0.0765	False		,,,				2504	0.2106				p.L497L		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - coding silent(1)	stomach(1)	c.C1489T						PASS	.	G		354,4052	183.6+/-211.2	10,334,1859	165	164	164		1489	-4.3	0	6	dbSNP_120	164	715,7885	174.9+/-225.1	36,643,3621	no	coding-synonymous	RSPH3	NM_031924.4		46,977,5480	AA,AG,GG		8.314,8.0345,8.2193		497/561	159398764	1069,11937	2203	4300	6503	SO:0001819	synonymous_variant	83861	exon8			CCTCCAGTGACTC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1489C>T	6.37:g.159398764G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	140	60	0.428571	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	CCDS5260.1																																																																																			G|0.871;A|0.129	0.129	strong		0.507	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		A	159398764	G	A	159398764	2	1	23	1	0	0	0	0	0	0	0	1	13705	1020	36	2		2	RSPH3	6	159398764	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	64	159398764	11716303	1754	18210										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159399348	159399348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttttttcaacttcattcAttagccatggaagaaatcct	6	8	3	1	rs768994	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159399348A>G	ENST00000252655.1	-	7	1505	c.1316T>C	c.(1315-1317)aTg>aCg	p.M439T	RSPH3_ENST00000297262.3_Missense_Mutation_p.M343T|RSPH3_ENST00000367069.2_Missense_Mutation_p.M297T|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000449822.1_Missense_Mutation_p.M201T	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	439			M -> T (in dbSNP:rs768994).					p.M439T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AACTTCATTCATTAGCCATGG	0.299													A|||	981	0.195887	0.0492	0.3429	5008	,	,		14515	0.3919		0.0765	False		,,,				2504	0.2106				p.M439T		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.T1316C						PASS	.	A	THR/MET	307,4095	164.4+/-196.0	9,289,1903	58	56	57		1316	5.6	1	6	dbSNP_86	57	712,7862	171.7+/-222.6	37,638,3612	yes	missense	RSPH3	NM_031924.4	81	46,927,5515	GG,GA,AA		8.3042,6.9741,7.853	probably-damaging	439/561	159399348	1019,11957	2201	4287	6488	SO:0001583	missense	83861	exon7			TCATTCATTAGCC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1316T>C	6.37:g.159399348A>G	ENSP00000252655:p.Met439Thr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	422	0.19322344322344323	24	0.04878048780487805	94	0.2596685082872928	244	0.42657342657342656	60	0.079155672823219	A	19.24	3.789284	0.70337	0.069741	0.083042	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.57	5.57	0.84162	.	0.083199	0.85682	D	0.000000	T	0.20088	0.0483	M	0.73430	2.235	0.09310	P	0.99999176289	P;P	0.41232	0.724;0.743	B;P	0.47075	0.376;0.536	T	0.02333	-1.1175	9	0.41790	T	0.15	-24.6425	15.3989	0.74823	1.0:0.0:0.0:0.0	rs768994;rs52797265;rs60633343;rs768994	343;439	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	T	297;201;439;343	ENSP00000356036:M297T;ENSP00000393195:M201T;ENSP00000252655:M439T;ENSP00000297262:M343T	ENSP00000252655:M439T	M	-	2	0	RSPH3	159319336	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.445000	0.90326	2.124000	0.65301	0.477000	0.44152	ATG	A|0.862;G|0.138	0.138	strong		0.299	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		G	159399348	A	G	159399348	3	3	23	1	0	0	0	0	1	0	0	0	13705	217	8	2	374	2	RSPH3	6	159399348	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	584	159399348	11715719	1755	18211										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159407446	159407446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagctctagagaatcaggcCgtccgagctaacagtgatag	13	9	2	2	rs34582178	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159407446C>T	ENST00000252655.1	-	3	827	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	RSPH3_ENST00000297262.3_Intron|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R71Q|RSPH3_ENST00000449822.1_Intron	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	213			R -> Q (in dbSNP:rs34582178).					p.R213Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGAATCAGGCCGTCCGAGCTA	0.433													T|||	1064	0.21246	0.0651	0.3746	5008	,	,		17667	0.3919		0.1034	False		,,,				2504	0.2239				p.R213Q		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.G638A						PASS	.	T	GLN/ARG	404,4002	788.9+/-415.0	12,380,1811	173	150	158		638	4.5	0.9	6	dbSNP_126	158	926,7674	777.0+/-407.7	61,804,3435	yes	missense	RSPH3	NM_031924.4	43	73,1184,5246	TT,TC,CC		10.7674,9.1693,10.226	benign	213/561	159407446	1330,11676	2203	4300	6503	SO:0001583	missense	83861	exon3			TCAGGCCGTCCGA	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.638G>A	6.37:g.159407446C>T	ENSP00000252655:p.Arg213Gln	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	217	106	0.488479	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	469	0.21474358974358973	33	0.06707317073170732	109	0.3011049723756906	244	0.42657342657342656	83	0.10949868073878628	T	1.013	-0.687310	0.03328	0.091693	0.107674	ENSG00000130363	ENST00000367069;ENST00000252655	T;T	0.15952	2.38;2.38	5.64	4.47	0.54385	.	0.266353	0.37483	N	0.002061	T	0.00906	0.0030	N	0.00280	-1.71	0.09310	P	0.9999999999999999	B	0.06786	0.001	B	0.04013	0.001	T	0.46442	-0.9191	9	0.02654	T	1	-22.7582	9.8258	0.40910	0.0:0.1457:0.0:0.8543	rs34582178	213	Q86UC2	RSPH3_HUMAN	Q	71;213	ENSP00000356036:R71Q;ENSP00000252655:R213Q	ENSP00000252655:R213Q	R	-	2	0	RSPH3	159327434	1.000000	0.71417	0.862000	0.33874	0.024000	0.10985	2.353000	0.44089	0.981000	0.38548	-0.269000	0.10298	CGG	C|0.861;T|0.139	0.139	strong		0.433	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159407446	C	T	159407446	3	4	23	1	0	0	0	0	1	0	0	0	13705	652	23	1	1068	1	RSPH3	6	159407446	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8098	159407446	11707621	1756	18212										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159653544	159653544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcgccttcgcccagccccGgccagccctgtcccccagcc	11	23	0	0	rs139265083	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159653544G>A	ENST00000297267.9	+	11	2200	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R604Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	667					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAGCCCCGGCCAGCCCTG	0.697													G|||	67	0.0133786	0.0015	0.0317	5008	,	,		12156	0.001		0.0278	False		,,,				2504	0.0143				p.R667Q		Atlas-SNP	.											FNDC1,NS,haematopoietic_neoplasm,+1,2	FNDC1	250	2	0			c.G2000A						PASS	.	G	GLN/ARG	28,3892		0,28,1932	13	18	16		2000	2.7	0	6	dbSNP_134	16	307,7885		10,287,3799	no	missense	FNDC1	NM_032532.2	43	10,315,5731	AA,AG,GG		3.7476,0.7143,2.7659	possibly-damaging	667/1895	159653544	335,11777	1960	4096	6056	SO:0001583	missense	84624	exon11			AGCCCCGGCCAGC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2000G>A	6.37:g.159653544G>A	ENSP00000297267:p.Arg667Gln	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	42	30	0.714286	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	36	0.016483516483516484	0	0.0	13	0.03591160220994475	0	0.0	23	0.030343007915567283	G	12.96	2.094516	0.36952	0.007143	0.037476	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07567	3.18;3.98	4.64	2.74	0.32292	.	1.268200	0.05190	N	0.502856	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	B;B	0.30021	0.265;0.105	B;B	0.23852	0.049;0.009	T	0.46911	-0.9157	10	0.30854	T	0.27	-3.1622	6.7573	0.23520	0.2381:0.0:0.7619:0.0	.	604;667	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	667;604	ENSP00000297267:R667Q;ENSP00000342460:R604Q	ENSP00000297267:R667Q	R	+	2	0	FNDC1	159573534	0.000000	0.05858	0.029000	0.17559	0.073000	0.16967	-0.331000	0.07914	0.330000	0.23485	-0.345000	0.07892	CGG	G|0.979;A|0.021	0.021	strong		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159653544	G	A	159653544	3	1	23	1	0	0	0	0	1	0	0	0	5968	1116	39	1	2042	1	FNDC1	6	159653544	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	246098	159653544	11461523	1757	18213										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159667961	159667961	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggcttggagactgacacTgcagtacctacggaagaggc	13	10	1	3	rs294911	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159667961T>G	ENST00000297267.9	+	15	4850	c.4650T>G	c.(4648-4650)acT>acG	p.T1550T	FNDC1_ENST00000340366.6_Silent_p.T1487T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1550					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGACTGACACTGCAGTACCTA	0.458													T|||	803	0.160343	0.0363	0.317	5008	,	,		18776	0.0982		0.2396	False		,,,				2504	0.1994				p.T1550T		Atlas-SNP	.											.	FNDC1	250	.	0			c.T4650G						PASS	.	T		255,3601		12,231,1685	131	127	128		4650	-10.2	0	6	dbSNP_79	128	1962,6328		218,1526,2401	no	coding-synonymous	FNDC1	NM_032532.2		230,1757,4086	GG,GT,TT		23.6671,6.6131,18.2529		1550/1895	159667961	2217,9929	1928	4145	6073	SO:0001819	synonymous_variant	84624	exon15			TGACACTGCAGTA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4650T>G	6.37:g.159667961T>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	103	63	0.61165	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	384	0.17582417582417584	30	0.06097560975609756	111	0.30662983425414364	55	0.09615384615384616	188	0.24802110817941952	T	3.832	-0.035489	0.07497	0.066131	0.236671	ENSG00000164694	ENST00000329629	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.02929	0.0087	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.21280	-1.0250	3	.	.	.	-0.3529	1.6692	0.02808	0.3931:0.0817:0.1885:0.3367	rs294911;rs17218437;rs59174672;rs294911	.	.	.	G	1446	.	.	C	+	1	0	FNDC1	159587951	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.140000	0.03210	-1.951000	0.01029	-1.433000	0.01084	TGC	T|0.835;G|0.165	0.165	strong		0.458	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		G	159667961	T	G	159667961	2	3	23	1	0	0	0	0	0	0	0	1	5968	1567	55	5		5	FNDC1	6	159667961	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14417	159667961	11447106	1758	18214										
FNDC1	84624	hgsc.bcm.edu	37	chr6	159667972	159667972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactgacactgcagtacctaCggaagaggcctacgttatat	10	10	0	2	rs61746218	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:159667972C>T	ENST00000297267.9	+	15	4861	c.4661C>T	c.(4660-4662)aCg>aTg	p.T1554M	FNDC1_ENST00000340366.6_Missense_Mutation_p.T1491M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1554					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCAGTACCTACGGAAGAGGCC	0.428													C|||	17	0.00339457	0.0008	0.0058	5008	,	,		18897	0.0		0.004	False		,,,				2504	0.0082				p.T1554M		Atlas-SNP	.											.	FNDC1	250	.	0			c.C4661T						PASS	.	C	MET/THR	6,3840		0,6,1917	133	128	129		4661	5.5	0.8	6	dbSNP_129	129	65,8205		0,65,4070	yes	missense	FNDC1	NM_032532.2	81	0,71,5987	TT,TC,CC		0.786,0.156,0.586	probably-damaging	1554/1895	159667972	71,12045	1923	4135	6058	SO:0001583	missense	84624	exon15			TACCTACGGAAGA	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4661C>T	6.37:g.159667972C>T	ENSP00000297267:p.Thr1554Met	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	104	42	0.403846	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	8	0.003663003663003663	0	0.0	5	0.013812154696132596	0	0.0	3	0.00395778364116095	C	14.60	2.584588	0.46110	0.00156	0.00786	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09817	2.94;3.75	5.54	5.54	0.83059	.	0.207947	0.41001	D	0.000969	T	0.10294	0.0252	M	0.64997	1.995	0.33849	D	0.632415	D	0.56746	0.977	P	0.45794	0.493	T	0.04796	-1.0926	9	.	.	.	-21.4287	17.2366	0.87000	0.0:1.0:0.0:0.0	rs61746218	1554	Q4ZHG4	FNDC1_HUMAN	M	1554;1491	ENSP00000297267:T1554M;ENSP00000342460:T1491M	.	T	+	2	0	FNDC1	159587962	0.988000	0.35896	0.765000	0.31456	0.577000	0.36160	2.989000	0.49393	2.588000	0.87417	0.591000	0.81541	ACG	C|0.995;T|0.005	0.005	strong		0.428	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159667972	C	T	159667972	3	4	23	1	0	0	0	0	1	0	0	0	5968	536	19	1	4719	1	FNDC1	6	159667972	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11	159667972	11447095	1759	18215										
TCP1	6950	hgsc.bcm.edu	37	chr6	160201577	160201577	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcttcaccttccaaattgGccagggttgacagaatagtt	8	9	2	2	rs148556538	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:160201577G>C	ENST00000321394.7	-	9	1275	c.995C>G	c.(994-996)gCc>gGc	p.A332G	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.A332G|TCP1_ENST00000392168.2_Missense_Mutation_p.A177G|TCP1_ENST00000544255.1_Missense_Mutation_p.A108G	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	332					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTCCAAATTGGCCAGGGTTGA	0.388													G|||	9	0.00179712	0.0068	0.0	5008	,	,		19426	0.0		0.0	False		,,,				2504	0.0				p.A332G		Atlas-SNP	.											.	TCP1	37	.	0			c.C995G						PASS	.	G	GLY/ALA,GLY/ALA	13,4393	17.9+/-39.9	0,13,2190	101	102	102		530,995	5.8	1	6	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TCP1	NM_001008897.1,NM_030752.2	60,60	0,14,6489	CC,CG,GG		0.0116,0.2951,0.1076	possibly-damaging,possibly-damaging	177/402,332/557	160201577	14,12992	2203	4300	6503	SO:0001583	missense	6950	exon9			AAATTGGCCAGGG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.995C>G	6.37:g.160201577G>C	ENSP00000317334:p.Ala332Gly	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	196	101	0.515306	NM_030752	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242607	0.79912	0.002951	1.16E-4	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.76	5.76	0.90799	.	0.140834	0.64402	D	0.000003	T	0.81683	0.4874	M	0.84683	2.71	0.58432	D	0.999999	P;P	0.43024	0.798;0.53	P;P	0.45538	0.484;0.456	D	0.83565	0.0109	10	0.56958	D	0.05	-13.3037	20.3242	0.98691	0.0:0.0:1.0:0.0	.	332;332	E7ERF2;P17987	.;TCPA_HUMAN	G	332;108;332;177;130	ENSP00000317334:A332G;ENSP00000439447:A108G;ENSP00000390159:A332G;ENSP00000376008:A177G;ENSP00000441345:A130G	ENSP00000317334:A332G	A	-	2	0	TCP1	160121567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.269000	0.78482	2.882000	0.98803	0.655000	0.94253	GCC	G|0.999;C|0.001	0.001	strong		0.388	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		C	160201577	G	C	160201577	3	2	23	1	0	0	0	0	1	0	0	0	15706	1203	42	4	691	4	TCP1	6	160201577	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	533605	160201577	10913490	1760	18216										
MAS1	4142	hgsc.bcm.edu	37	chr6	160328620	160328620	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtccagcaccatcttggtCgtgaagatccggaagaacac	11	11	1	3	rs220721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:160328620C>T	ENST00000252660.4	+	1	647	c.633C>T	c.(631-633)gtC>gtT	p.V211V		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	211					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CCATCTTGGTCGTGAAGATCC	0.502													C|||	1702	0.339856	0.2927	0.3429	5008	,	,		22495	0.6677		0.2386	False		,,,				2504	0.1677				p.V211V		Atlas-SNP	.											.	MAS1	42	.	0			c.C633T						PASS	.	C		1264,3142	432.8+/-343.4	187,890,1126	110	106	107		633	-0.6	0	6	dbSNP_79	107	1873,6727	334.6+/-321.1	206,1461,2633	no	coding-synonymous	MAS1	NM_002377.2		393,2351,3759	TT,TC,CC		21.7791,28.6882,24.1196		211/326	160328620	3137,9869	2203	4300	6503	SO:0001819	synonymous_variant	4142	exon1			CTTGGTCGTGAAG	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.633C>T	6.37:g.160328620C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	126	62	0.492063	NM_002377	E1P5B3|Q2TBC9|Q6FG47	Silent	SNP	ENST00000252660.4	37	CCDS5272.1																																																																																			C|0.695;T|0.305	0.305	strong		0.502	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		T	160328620	C	T	160328620	2	4	23	1	0	0	0	0	0	0	0	1	9320	871	31	1		1	MAS1	6	160328620	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	127043	160328620	10786447	1761	18217										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160453978	160453978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttccctgtttttaggttcAtcctatatttcagatggaaa	6	7	2	1	rs1570070	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:160453978A>G	ENST00000356956.1	+	9	1198	c.1050A>G	c.(1048-1050)tcA>tcG	p.S350S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	350					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTTAGGTTCATCCTATATTT	0.313													A|||	2123	0.423922	0.2405	0.3545	5008	,	,		20863	0.746		0.3489	False		,,,				2504	0.4663				p.S350S		Atlas-SNP	.											.	IGF2R	251	.	0			c.A1050G						PASS	.	A		1139,3265	378.0+/-322.7	132,875,1195	79	88	85		1050	-7.8	0	6	dbSNP_88	85	2790,5810	437.3+/-358.6	463,1864,1973	no	coding-synonymous	IGF2R	NM_000876.2		595,2739,3168	GG,GA,AA		32.4419,25.8629,30.2138		350/2492	160453978	3929,9075	2202	4300	6502	SO:0001819	synonymous_variant	3482	exon9			AGGTTCATCCTAT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1050A>G	6.37:g.160453978A>G		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			A|0.643;G|0.357	0.357	strong		0.313	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160453978	A	G	160453978	2	3	23	1	0	0	0	0	0	0	0	1	7576	204	8	2		2	IGF2R	6	160453978	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	125358	160453978	10661089	1762	18218										
IGF2R	3482	hgsc.bcm.edu	37	chr6	160493834	160493834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctccttaagtggcagggcGggattcacagctgcttacag	13	10	1	0	rs2230044	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:160493834G>A	ENST00000356956.1	+	33	4756	c.4608G>A	c.(4606-4608)gcG>gcA	p.A1536A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1536					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTGGCAGGGCGGGATTCACAG	0.552													G|||	298	0.0595048	0.0749	0.0187	5008	,	,		21061	0.0933		0.0109	False		,,,				2504	0.0828				p.A1536A		Atlas-SNP	.											.	IGF2R	251	.	0			c.G4608A						PASS	.	G		334,4072	177.3+/-206.3	12,310,1881	168	140	150		4608	-10.2	0.2	6	dbSNP_98	150	119,8481	62.4+/-124.4	2,115,4183	no	coding-synonymous	IGF2R	NM_000876.2		14,425,6064	AA,AG,GG		1.3837,7.5806,3.483		1536/2492	160493834	453,12553	2203	4300	6503	SO:0001819	synonymous_variant	3482	exon33			CAGGGCGGGATTC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4608G>A	6.37:g.160493834G>A		Somatic	286	1	0.0034965		WXS	Illumina HiSeq	Phase_I	235	111	0.47234	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			G|0.958;A|0.042	0.042	strong		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160493834	G	A	160493834	2	1	23	1	0	0	0	0	0	0	0	1	7576	1103	39	1		1	IGF2R	6	160493834	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39856	160493834	10621233	1763	18219										
SLC22A1	6580	hgsc.bcm.edu	37	chr6	160560845	160560845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgcatctaccccatggccAtgtcaaatttgttggcgggg	12	12	2	0	rs628031	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:160560845A>G	ENST00000366963.4	+	7	1369	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	SLC22A1_ENST00000324965.4_Missense_Mutation_p.M408V|SLC22A1_ENST00000457470.2_Missense_Mutation_p.M408V	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	408			M -> V (no changes in the MPP uptake. No changes in the MPP uptake; when associated with F-14. No changes in the MPP uptake; when associated with F-85. No changes in the MPP uptake; when associated with L-189. No changes in the MPP uptake; when associated with His-342. No changes in the MPP uptake; when associated with M-420 del. No changes in the MPP uptake; when associated with I- 440. No changes in the MPP uptake; when associated with I-461. No changes in the MPP uptake; when associated with M-488. Reduction of the MPP uptake; when associated with C-61. No MPP uptake; when associated with V-220. Reduction of the MPP uptake; when associated with L-341. No MPP uptake; when associated with S- 401. No MPP uptake; when associated with R-465; dbSNP:rs628031). {ECO:0000269|PubMed:12719534, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15499200}.		dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CCCCATGGCCATGTCAAATTT	0.527													G|||	3444	0.6877	0.7307	0.7839	5008	,	,		14343	0.7411		0.5865	False		,,,				2504	0.6104				p.M408V		Atlas-SNP	.											.	SLC22A1	69	.	0			c.A1222G						PASS	.	G	VAL/MET,VAL/MET	3200,1206	418.9+/-338.5	1173,854,176	67	67	67		1222,1222	-9.1	0	6	dbSNP_83	67	5093,3507	511.4+/-377.7	1516,2061,723	yes	missense,missense	SLC22A1	NM_003057.2,NM_153187.1	21,21	2689,2915,899	GG,GA,AA		40.7791,27.3718,36.2371	benign,benign	408/555,408/507	160560845	8293,4713	2203	4300	6503	SO:0001583	missense	6580	exon7			ATGGCCATGTCAA	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1222A>G	6.37:g.160560845A>G	ENSP00000355930:p.Met408Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	63	61	0.968254	NM_153187	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	CCDS5274.1	1524	0.6978021978021978	368	0.7479674796747967	279	0.7707182320441989	435	0.7604895104895105	442	0.58311345646438	G	0.022	-1.406937	0.01155	0.726282	0.592209	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.73047	-0.71;0.48;0.48	5.08	-9.1	0.00714	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.244500	0.05468	N	0.552535	T	0.06917	0.0176	N	0.00569	-1.365	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04165	-1.0972	9	0.07175	T	0.84	.	1.367	0.02203	0.3768:0.2354:0.2283:0.1594	rs628031;rs1086277;rs17202481;rs60990824;rs628031	408;408	O15245-2;O15245	.;S22A1_HUMAN	V	408	ENSP00000355930:M408V;ENSP00000318103:M408V;ENSP00000409557:M408V	ENSP00000318103:M408V	M	+	1	0	SLC22A1	160480835	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.590000	0.00899	-2.233000	0.00716	-0.994000	0.02522	ATG	A|0.330;G|0.669	0.669	strong		0.527	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			G	160560845	A	G	160560845	3	3	23	1	0	0	0	0	1	0	0	0	14440	217	8	2	1248	2	SLC22A1	6	160560845	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	67011	160560845	10554222	1764	18220										
MAP3K4	4216	hgsc.bcm.edu	37	chr6	161508880	161508880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatctgcttctgaccaagcAcggtgatcgagcccgtgatt	10	12	2	3	rs35533223	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:161508880A>C	ENST00000392142.4	+	10	2865	c.2717A>C	c.(2716-2718)cAc>cCc	p.H906P	MAP3K4_ENST00000366919.2_Missense_Mutation_p.H906P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H906P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.H906P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	906			H -> P (in dbSNP:rs35533223). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGACCAAGCACGGTGATCGA	0.512													A|||	57	0.0113818	0.0023	0.0159	5008	,	,		20328	0.0		0.0278	False		,,,				2504	0.0153				p.H906P		Atlas-SNP	.											.	MAP3K4	364	.	0			c.A2717C						PASS	.	A	PRO/HIS,PRO/HIS	36,4370	40.8+/-73.8	0,36,2167	139	112	121		2717,2717	2	0	6	dbSNP_126	121	344,8256	117.7+/-177.3	5,334,3961	yes	missense,missense	MAP3K4	NM_005922.2,NM_006724.2	77,77	5,370,6128	CC,CA,AA		4.0,0.8171,2.9217	possibly-damaging,possibly-damaging	906/1609,906/1559	161508880	380,12626	2203	4300	6503	SO:0001583	missense	4216	exon10			CCAAGCACGGTGA	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2717A>C	6.37:g.161508880A>C	ENSP00000375986:p.His906Pro	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	116	60	0.517241	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	32	0.014652014652014652	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	22	0.029023746701846966	A	13.59	2.282961	0.40394	0.008171	0.04	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70749	-0.5;-0.49;-0.49;-0.51	5.73	1.95	0.26073	.	0.192782	0.44483	D	0.000443	T	0.48696	0.1514	L	0.60455	1.87	0.33817	D	0.628597	B;P;P	0.42993	0.305;0.797;0.472	B;B;B	0.43623	0.245;0.425;0.261	T	0.40059	-0.9583	10	0.33141	T	0.24	-6.8869	6.1099	0.20094	0.7457:0.0:0.1333:0.121	rs35533223	906;906;906	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	P	906	ENSP00000355886:H906P;ENSP00000375986:H906P;ENSP00000355887:H906P;ENSP00000297332:H906P	ENSP00000297332:H906P	H	+	2	0	MAP3K4	161428870	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.880000	0.63107	0.483000	0.27608	0.533000	0.62120	CAC	A|0.976;C|0.024	0.024	strong		0.512	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			C	161508880	A	C	161508880	3	2	23	1	0	0	0	0	1	0	0	0	9252	159	6	5	2755	5	MAP3K4	6	161508880	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	948035	161508880	9606187	1765	18221										
AGPAT4	56895	hgsc.bcm.edu	37	chr6	161567601	161567601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggccgagcactcgtcatcGtcttcagggatgtcttccag	11	13	4	0	rs16892215	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:161567601G>A	ENST00000320285.4	-	7	1010	c.798C>T	c.(796-798)gaC>gaT	p.D266D	AGPAT4_ENST00000457520.2_Silent_p.D104D|AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	266					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACTCGTCATCGTCTTCAGGGA	0.592													G|||	117	0.0233626	0.0802	0.0072	5008	,	,		18454	0.006		0.0	False		,,,				2504	0.0				p.D266D		Atlas-SNP	.											.	AGPAT4	50	.	0			c.C798T						PASS	.	G		263,4143	150.3+/-184.3	10,243,1950	126	102	110		798	-9.9	0	6	dbSNP_123	110	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	AGPAT4	NM_020133.2		10,245,6248	AA,AG,GG		0.0233,5.9691,2.0375		266/379	161567601	265,12741	2203	4300	6503	SO:0001819	synonymous_variant	56895	exon7			GTCATCGTCTTCA	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.798C>T	6.37:g.161567601G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_020133	B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	CCDS5280.1	47	0.02152014652014652	37	0.07520325203252033	4	0.011049723756906077	6	0.01048951048951049	0	0.0	G	0.145	-1.097373	0.01843	0.059691	2.33E-4	ENSG00000026652	ENST00000437165	.	.	.	4.95	-9.9	0.00461	.	.	.	.	.	T	0.43366	0.1244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68112	-0.5495	4	.	.	.	-42.6356	14.5465	0.68035	0.7342:0.1664:0.0994:0.0	rs16892215;rs16892215	.	.	.	M	45	.	.	T	-	2	0	AGPAT4	161487591	0.004000	0.15560	0.014000	0.15608	0.025000	0.11179	-1.069000	0.03444	-3.051000	0.00260	-0.997000	0.02515	ACG	G|0.975;A|0.025	0.025	strong		0.592	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		A	161567601	G	A	161567601	2	1	23	1	0	0	0	0	0	0	0	1	389	1136	40	1		1	AGPAT4	6	161567601	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	58721	161567601	9547466	1766	18222										
PARK2	5071	hgsc.bcm.edu	37	chr6	162864492	162864492	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaaaccatggctggagttGaacctgacaaacactgacca	11	10	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:162864492G>C	ENST00000366898.1	-	2	123	c.21C>G	c.(19-21)ttC>ttG	p.F7L	PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498																																					p.F7L		Atlas-SNP	.											.	PARK2	96	.	0			c.C21G						PASS	.						108	93	98					6																	162864492		2203	4300	6503	SO:0001583	missense	5071	exon2			GGAGTTGAACCTG		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.21C>G	6.37:g.162864492G>C	ENSP00000355865:p.Phe7Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	129	35	0.271318	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621739	0.66787	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96367	0.8815	M	0.61703	1.905	0.33112	D	0.540611	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95572	0.8639	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC	.	.	none		0.498	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			C	162864492	G	C	162864492	3	2	23	1	0	0	0	0	1	0	0	0	11449	1281	45	4	1420	4	PARK2	6	162864492	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1296891	162864492	8250575	1767	18223										
T	6862	hgsc.bcm.edu	37	chr6	166571935	166571935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggatcccgaggaagagggCgccgagaccggatgggtgag	21	8	0	3	rs35819705	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:166571935C>T	ENST00000296946.2	-	9	1644	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	T_ENST00000366871.3_Silent_p.A334A	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	392					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGGAAGAGGGCGCCGAGACCG	0.711									Chordoma, Familial Clustering of				C|||	1194	0.238419	0.0499	0.3213	5008	,	,		15354	0.3095		0.2783	False		,,,				2504	0.32				p.A392A		Atlas-SNP	.											.	T	77	.	0			c.G1176A						PASS	.	C		362,4042	183.3+/-210.9	15,332,1855	52	61	58		1176	-6.6	0	6	dbSNP_126	58	2610,5986	418.2+/-352.7	403,1804,2091	no	coding-synonymous	T	NM_003181.2		418,2136,3946	TT,TC,CC		30.363,8.2198,22.8615		392/436	166571935	2972,10028	2202	4298	6500	SO:0001819	synonymous_variant	6862	exon9	Familial Cancer Database		AGAGGGCGCCGAG	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1176G>A	6.37:g.166571935C>T		Somatic	160	1	0.00625		WXS	Illumina HiSeq	Phase_I	136	132	0.970588	NM_003181	E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	CCDS5290.1																																																																																			C|0.771;T|0.229	0.229	strong		0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		T	166571935	C	T	166571935	2	4	23	1	0	0	0	0	0	0	0	1	15485	755	27	1		1	T	6	166571935	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3707443	166571935	4543132	1768	18224										
RPS6KA2	6196	hgsc.bcm.edu	37	chr6	167040463	167040463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttcctgcgcaggtacacAgagaagaacctgcgcacggc	12	13	0	2	rs10946179	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:167040463A>G	ENST00000265678.4	-	1	268	c.45T>C	c.(43-45)tcT>tcC	p.S15S	RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000366863.2_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	15					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCAGGTACACAGAGAAGAACC	0.711													g|||	874	0.174521	0.1536	0.1369	5008	,	,		9611	0.2609		0.1889	False		,,,				2504	0.1258				p.S15S		Atlas-SNP	.											RPS6KA2,brain,glioma,0,2	RPS6KA2	212	2	0			c.T45C						PASS	.		,	643,3735		46,551,1592	14	13	13		,45	-9.4	0.9	6	dbSNP_120	13	1454,7112		127,1200,2956	no	intron,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	173,1751,4548	GG,GA,AA		16.9741,14.6871,16.2006	,	,15/734	167040463	2097,10847	2189	4283	6472	SO:0001819	synonymous_variant	6196	exon1			GTACACAGAGAAG	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.45T>C	6.37:g.167040463A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			A|0.834;G|0.166	0.166	strong		0.711	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		G	167040463	A	G	167040463	2	3	23	1	0	0	0	0	0	0	0	1	13651	175	7	3		3	RPS6KA2	6	167040463	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	468528	167040463	4074604	1769	18225										
RNASET2	8635	hgsc.bcm.edu	37	chr6	167344583	167344583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcactccatatactctggcAagggcatctttaaaatctgc	6	11	4	0	rs13213697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:167344583A>G	ENST00000508775.1	-	8	1035	c.516T>C	c.(514-516)ctT>ctC	p.L172L	RNASET2_ENST00000366855.6_Silent_p.L134L|RNASET2_ENST00000476238.2_Silent_p.L172L|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000496851.2_5'Flank	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	172					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ATACTCTGGCAAGGGCATCTT	0.388													A|||	924	0.184505	0.3608	0.1513	5008	,	,		25713	0.0069		0.1948	False		,,,				2504	0.1421				p.L172L		Atlas-SNP	.											.	RNASET2	18	.	0			c.T516C						PASS	.	A		1524,2882	481.7+/-359.2	274,976,953	162	158	160		516	-5.7	0.6	6	dbSNP_121	160	1597,7003	297.0+/-303.2	139,1319,2842	no	coding-synonymous	RNASET2	NM_003730.4		413,2295,3795	GG,GA,AA		18.5698,34.5892,23.9966		172/257	167344583	3121,9885	2203	4300	6503	SO:0001819	synonymous_variant	8635	exon8			TCTGGCAAGGGCA	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.516T>C	6.37:g.167344583A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_003730	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Silent	SNP	ENST00000508775.1	37	CCDS5295.1																																																																																			A|0.780;G|0.220	0.220	strong		0.388	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		G	167344583	A	G	167344583	2	3	23	1	0	0	0	0	0	0	0	1	13418	117	5	2		2	RNASET2	6	167344583	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	304120	167344583	3770484	1770	18226										
CCR6	1235	hgsc.bcm.edu	37	chr6	167549775	167549775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactccagtgaagattatttTgtgtcagtcaatacttcata	7	7	3	2	rs3093007	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:167549775T>C	ENST00000341935.5	+	3	609	c.57T>C	c.(55-57)ttT>ttC	p.F19F	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Silent_p.F19F|CCR6_ENST00000400926.2_Silent_p.F19F	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	19					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AAGATTATTTTGTGTCAGTCA	0.418													T|||	655	0.130791	0.1778	0.1167	5008	,	,		22549	0.0476		0.1759	False		,,,				2504	0.1166				p.F19F		Atlas-SNP	.											.	CCR6	36	.	0			c.T57C						PASS	.	T	,	777,3629	315.8+/-294.3	79,619,1505	149	147	148		57,57	-3.2	0	6	dbSNP_103	148	1594,7006	297.5+/-303.5	149,1296,2855	no	coding-synonymous,coding-synonymous	CCR6	NM_004367.5,NM_031409.3	,	228,1915,4360	CC,CT,TT		18.5349,17.635,18.23	,	19/375,19/375	167549775	2371,10635	2203	4300	6503	SO:0001819	synonymous_variant	1235	exon3			TTATTTTGTGTCA	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.57T>C	6.37:g.167549775T>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	80	44	0.55	NM_004367	E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	CCDS5298.1																																																																																			T|0.835;C|0.165	0.165	strong		0.418	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			C	167549775	T	C	167549775	2	2	23	1	0	0	0	0	0	0	0	1	2945	1809	63	2		2	CCR6	6	167549775	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	205192	167549775	3565292	1771	18227										
TCP10L2	401285	hgsc.bcm.edu	37	chr6	167592606	167592606	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagacggcagcagccggagtTgctggtgagcagggtagggg	20	8	0	2	rs201866116	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577																																					p.V255V		Atlas-SNP	.											.	TCP10L2	41	.	0			c.T765A						PASS	.																																			SO:0001819	synonymous_variant	401285	exon6			CGGAGTTGCTGGT		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.765T>A	6.37:g.167592606T>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	131	44	0.335878	NM_001145121		Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																			T|0.927;A|0.073	0.073	strong		0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		A	167592606	T	A	167592606	2	1	23	1	0	0	0	0	0	0	0	1	15709	1799	63	5		5	TCP10L2	6	167592606	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	42831	167592606	3522461	1772	18228										
MLLT4	4301	hgsc.bcm.edu	37	chr6	168315978	168315978	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctgttcaatagattggtGaccgacccagattcggggct	13	9	1	3	rs3213590	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:168315978G>C	ENST00000447894.2	+	18	2409	c.2409G>C	c.(2407-2409)gtG>gtC	p.V803V	MLLT4_ENST00000366806.2_Silent_p.V803V|MLLT4_ENST00000344191.4_Silent_p.V803V|MLLT4_ENST00000351017.4_Silent_p.V810V|MLLT4_ENST00000400822.3_Silent_p.V802V|MLLT4_ENST00000392108.3_Silent_p.V803V|MLLT4_ENST00000392112.1_Silent_p.V787V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	803	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATAGATTGGTGACCGACCCAG	0.547			T	MLL	AL								G|||	946	0.188898	0.2103	0.2104	5008	,	,		19363	0.1954		0.0775	False		,,,				2504	0.2526				p.V803V		Atlas-SNP	.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351	.	0			c.G2409C						PASS	.	G	,	723,3683	300.1+/-286.2	51,621,1531	122	96	105		2409,2361	-1.4	0.7	6	dbSNP_106	105	678,7922	170.7+/-221.8	26,626,3648	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	77,1247,5179	CC,CG,GG		7.8837,16.4094,10.772	,	803/1652,787/1744	168315978	1401,11605	2203	4300	6503	SO:0001819	synonymous_variant	4301	exon18			ATTGGTGACCGAC	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2409G>C	6.37:g.168315978G>C		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	200	79	0.395	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																				G|0.880;C|0.120	0.120	strong		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168315978	G	C	168315978	2	2	23	1	0	0	0	0	0	0	0	1	9629	1277	45	4		4	MLLT4	6	168315978	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	723372	168315978	2799089	1773	18229										
MLLT4	4301	hgsc.bcm.edu	37	chr6	168317816	168317816	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgcacctgatgacattccAaatataaacagcacctgctt	5	11	0	2	rs6906754	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:168317816A>C	ENST00000447894.2	+	19	2592	c.2592A>C	c.(2590-2592)ccA>ccC	p.P864P	MLLT4_ENST00000366806.2_Silent_p.P864P|MLLT4_ENST00000344191.4_Silent_p.P864P|MLLT4_ENST00000351017.4_Silent_p.P871P|MLLT4_ENST00000400822.3_Silent_p.P863P|MLLT4_ENST00000392108.3_Silent_p.P864P|MLLT4_ENST00000392112.1_Silent_p.P848P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	864	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATGACATTCCAAATATAAACA	0.348			T	MLL	AL								A|||	964	0.192492	0.2247	0.2118	5008	,	,		16930	0.1935		0.0775	False		,,,				2504	0.2526				p.P864P		Atlas-SNP	.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351	.	0			c.A2592C						PASS	.	A	,	798,3608	317.7+/-295.3	65,668,1470	136	129	131		2592,2544	-11	0	6	dbSNP_116	131	680,7920	169.0+/-220.4	26,628,3646	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	91,1296,5116	CC,CA,AA		7.907,18.1117,11.364	,	864/1652,848/1744	168317816	1478,11528	2203	4300	6503	SO:0001819	synonymous_variant	4301	exon19			CATTCCAAATATA	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2592A>C	6.37:g.168317816A>C		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	179	98	0.547486	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																				A|0.869;C|0.131	0.131	strong		0.348	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168317816	A	C	168317816	2	2	23	1	0	0	0	0	0	0	0	1	9629	117	5	5		5	MLLT4	6	168317816	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1838	168317816	2797251	1774	18230										
MLLT4	4301	hgsc.bcm.edu	37	chr6	168343838	168343838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagataaactaggaatctaTgtgaagtcggttgtgaaagg	12	4	1	3	rs1132306	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:168343838T>C	ENST00000447894.2	+	23	3108	c.3108T>C	c.(3106-3108)taT>taC	p.Y1036Y	MLLT4_ENST00000366806.2_Silent_p.Y1036Y|MLLT4_ENST00000344191.4_Silent_p.Y1036Y|MLLT4_ENST00000351017.4_Silent_p.Y1043Y|MLLT4_ENST00000400822.3_Silent_p.Y1035Y|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Silent_p.Y1036Y|MLLT4_ENST00000392112.1_Silent_p.Y1020Y			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1036	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGAATCTATGTGAAGTCGG	0.378			T	MLL	AL								T|||	2786	0.55631	0.4138	0.5605	5008	,	,		22196	0.7927		0.4066	False		,,,				2504	0.6564				p.Y1036Y		Atlas-SNP	.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351	.	0			c.T3108C						PASS	.	T	,	1842,2564	536.8+/-374.6	379,1084,740	179	162	168		3108,3060	-4.9	0.9	6	dbSNP_86	168	3657,4943	525.8+/-380.8	771,2115,1414	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	1150,3199,2154	CC,CT,TT		42.5233,41.8066,42.2805	,	1036/1652,1020/1744	168343838	5499,7507	2203	4300	6503	SO:0001819	synonymous_variant	4301	exon23			AATCTATGTGAAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3108T>C	6.37:g.168343838T>C		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	185	93	0.502703	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																				T|0.525;C|0.475	0.475	strong		0.378	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168343838	T	C	168343838	2	2	23	1	0	0	0	0	0	0	0	1	9629	1471	51	2		2	MLLT4	6	168343838	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26022	168343838	2771229	1775	18231										
FRMD1	79981	hgsc.bcm.edu	37	chr6	168463624	168463624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaggatcacggtgggacGaccttccttcttatcctaga	9	13	2	1	rs902393	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:168463624G>A	ENST00000283309.6	-	7	884	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45C|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		R -> C (in dbSNP:rs902393).			cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACGGTGGGACGACCTTCCTTC	0.622													G|||	349	0.0696885	0.0779	0.0706	5008	,	,		16980	0.0506		0.0557	False		,,,				2504	0.092				p.R274C	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	Atlas-SNP	.											.	FRMD1	52	.	0			c.C820T						PASS	.	G	CYS/ARG,CYS/ARG	295,4111	160.7+/-193.0	8,279,1916	126	108	114		616,820	-1.9	0	6	dbSNP_86	114	618,7982	162.0+/-214.8	24,570,3706	yes	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	180,180	32,849,5622	AA,AG,GG		7.186,6.6954,7.0198	probably-damaging,probably-damaging	206/482,274/550	168463624	913,12093	2203	4300	6503	SO:0001583	missense	79981	exon7			TGGGACGACCTTC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.820C>T	6.37:g.168463624G>A	ENSP00000283309:p.Arg274Cys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	131	69	0.526718	NM_024919	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	142	0.06501831501831502	38	0.07723577235772358	24	0.06629834254143646	31	0.05419580419580419	49	0.06464379947229551	G	7.963	0.747369	0.15710	0.066954	0.07186	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;T	0.83250	-1.7;-1.6;1.49	2.89	-1.93	0.07594	FERM domain (1);	0.301075	0.24922	U	0.034532	T	0.58509	0.2127	M	0.61703	1.905	0.80722	P	0.0	B;B;B;B	0.20459	0.045;0.004;0.006;0.02	B;B;B;B	0.21546	0.035;0.002;0.005;0.013	T	0.33471	-0.9867	9	0.54805	T	0.06	.	2.7246	0.05210	0.0898:0.27:0.3524:0.2878	rs902393;rs17219446;rs57716756;rs902393	186;274;206;146	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	274;206;45	ENSP00000283309:R274C;ENSP00000414115:R206C;ENSP00000440078:R45C	ENSP00000283309:R274C	R	-	1	0	FRMD1	168206473	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.007000	0.12810	-1.001000	0.03434	-0.657000	0.03884	CGT	G|0.932;A|0.068	0.068	strong		0.622	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		A	168463624	G	A	168463624	3	1	23	1	0	0	0	0	1	0	0	0	6049	1058	37	1	849	1	FRMD1	6	168463624	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	119786	168463624	2651443	1776	18232										
FRMD1	79981	hgsc.bcm.edu	37	chr6	168479568	168479568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggccctgctcacccccacGgccagccgcagttgctcccg	11	20	1	0	rs78152017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:168479568G>A	ENST00000283309.6	-	1	271	c.207C>T	c.(205-207)gcC>gcT	p.A69A		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCACCCCCACGGCCAGCCGCA	0.706													G|||	506	0.101038	0.1051	0.0807	5008	,	,		13489	0.1181		0.0676	False		,,,				2504	0.1268				p.A69A	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	Atlas-SNP	.											.	FRMD1	52	.	0			c.C207T						PASS	.	G		389,4015		15,359,1828	47	55	52		207	-5.8	0.1	6	dbSNP_131	52	685,7905		29,627,3639	no	coding-synonymous	FRMD1	NM_024919.3		44,986,5467	AA,AG,GG		7.9744,8.8329,8.2654		69/550	168479568	1074,11920	2202	4295	6497	SO:0001819	synonymous_variant	79981	exon1			CCCCACGGCCAGC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.207C>T	6.37:g.168479568G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	17	0.404762	NM_024919	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	CCDS5306.1																																																																																			G|0.913;A|0.087	0.087	strong		0.706	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		A	168479568	G	A	168479568	2	1	23	1	0	0	0	0	0	0	0	1	6049	1103	39	1		1	FRMD1	6	168479568	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15944	168479568	2635499	1777	18233										
WDR27	253769	hgsc.bcm.edu	37	chr6	170047902	170047902	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcatacacgtgtgcaggTgggggcggcagcgacctggg	19	10	0	0	rs61740334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170047902T>A	ENST00000448612.1	-	16	1733	c.1624A>T	c.(1624-1626)Acc>Tcc	p.T542S	WDR27_ENST00000333572.6_Missense_Mutation_p.T542S|WDR27_ENST00000423258.1_Missense_Mutation_p.T415S|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	512						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTGTGCAGGTGGGGGCGGCA	0.617													T|||	287	0.0573083	0.0121	0.0418	5008	,	,		13579	0.0992		0.0726	False		,,,				2504	0.0706				p.T542S		Atlas-SNP	.											.	WDR27	129	.	0			c.A1624T						PASS	.	T	SER/THR,SER/THR	72,3958		0,72,1943	9	13	12		1624,1243	-7.6	0	6	dbSNP_129	12	578,7746		16,546,3600	yes	missense,missense	WDR27	NM_182552.4,NM_001202550.1	58,58	16,618,5543	AA,AT,TT		6.9438,1.7866,5.2615	benign,benign	542/896,415/731	170047902	650,11704	2015	4162	6177	SO:0001583	missense	253769	exon16			TGCAGGTGGGGGC	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1624A>T	6.37:g.170047902T>A	ENSP00000416289:p.Thr542Ser	Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	227	120	0.528634	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	141	0.06456043956043957	8	0.016260162601626018	16	0.04419889502762431	62	0.10839160839160839	55	0.07255936675461741	T	1.713	-0.498641	0.04291	0.017866	0.069438	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;D	0.95724	1.94;1.09;-3.79	3.79	-7.58	0.01313	.	3.278270	0.00991	N	0.003520	T	0.67924	0.2945	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.20887	0.013;0.009;0.049	B;B;B	0.18263	0.004;0.014;0.021	T	0.75079	-0.3444	9	0.08599	T	0.76	1.0724	8.3339	0.32202	0.0:0.5217:0.2596:0.2187	rs61740334	542;415;542	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	S	542;542;415	ENSP00000416289:T542S;ENSP00000330265:T542S;ENSP00000397869:T415S	ENSP00000330265:T542S	T	-	1	0	WDR27	169789827	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.815000	0.00096	-2.957000	0.00291	-0.959000	0.02639	ACC	T|0.912;A|0.088	0.088	strong		0.617	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		A	170047902	T	A	170047902	3	1	23	1	0	0	0	0	1	0	0	0	17281	1696	59	5	989	5	WDR27	6	170047902	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1568334	170047902	1067165	1778	18234										
WDR27	253769	hgsc.bcm.edu	37	chr6	170058374	170058374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcaccctgtactgaccaCgtcgctgttcactagcagcc	8	16	1	1	rs3800544	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170058374C>T	ENST00000448612.1	-	13	1509	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	WDR27_ENST00000333572.6_Missense_Mutation_p.R467H|WDR27_ENST00000423258.1_Missense_Mutation_p.R340H|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	437						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTACTGACCACGTCGCTGTTC	0.483													C|||	400	0.0798722	0.1014	0.049	5008	,	,		20160	0.0903		0.0716	False		,,,				2504	0.0706				p.R467H		Atlas-SNP	.											.	WDR27	129	.	0			c.G1400A						PASS	.	C	HIS/ARG,HIS/ARG	364,3848		17,330,1759	78	78	78		1400,1019	1.5	0	6	dbSNP_107	78	604,7838		23,558,3640	yes	missense,missense	WDR27	NM_182552.4,NM_001202550.1	29,29	40,888,5399	TT,TC,CC		7.1547,8.642,7.6498	benign,benign	467/896,340/731	170058374	968,11686	2106	4221	6327	SO:0001583	missense	253769	exon13			TGACCACGTCGCT	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1400G>A	6.37:g.170058374C>T	ENSP00000416289:p.Arg467His	Somatic	199	1	0.00502513		WXS	Illumina HiSeq	Phase_I	182	101	0.554945	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	184|184	0.08424908424908426|0.08424908424908426	48|48	0.0975609756097561|0.0975609756097561	21|21	0.058011049723756904|0.058011049723756904	61|61	0.10664335664335664|0.10664335664335664	54|54	0.0712401055408971|0.0712401055408971	C|C	4.979|4.979	0.181740|0.181740	0.09495|0.09495	0.08642|0.08642	0.071547|0.071547	ENSG00000184465|ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258|ENST00000441385	T;T;T|.	0.24538|.	1.92;2.17;1.85|.	4.56|4.56	1.5|1.5	0.22942|0.22942	.|.	1.649040|.	0.03431|.	N|.	0.207806|.	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	B;B;B;B|.	0.06786|.	0.001;0.0;0.001;0.001|.	B;B;B;B|.	0.08055|.	0.0;0.0;0.003;0.001|.	T|T	0.26815|0.26815	-1.0092|-1.0092	9|4	0.14252|.	T|.	0.57|.	-13.7184|-13.7184	7.3373|7.3373	0.26617|0.26617	0.0:0.3557:0.4646:0.1796|0.0:0.3557:0.4646:0.1796	rs3800544;rs52796940;rs58816624;rs3800544|rs3800544;rs52796940;rs58816624;rs3800544	467;437;340;467|.	F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0|.	.;WDR27_HUMAN;.;.|.	H|M	467;467;340|101	ENSP00000416289:R467H;ENSP00000330265:R467H;ENSP00000397869:R340H|.	ENSP00000330265:R467H|.	R|V	-|-	2|1	0|0	WDR27|WDR27	169800299|169800299	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.443000|0.443000	0.21644|0.21644	0.049000|0.049000	0.15920|0.15920	-0.344000|-0.344000	0.07964|0.07964	CGT|GTG	C|0.910;T|0.090	0.090	strong		0.483	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		T	170058374	C	T	170058374	3	4	23	1	0	0	0	0	1	0	0	0	17281	536	19	1	1225	1	WDR27	6	170058374	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10472	170058374	1056693	1779	18235										
WDR27	253769	hgsc.bcm.edu	37	chr6	170068086	170068086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatccctcaccttaaagcCtctgtcctcagacgccgaga	6	17	3	2	rs41265385	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170068086C>T	ENST00000448612.1	-	5	761	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	WDR27_ENST00000333572.6_Missense_Mutation_p.G218S|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000546525.1_5'Flank|WDR27_ENST00000420344.2_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	188						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCTTAAAGCCTCTGTCCTCA	0.657													C|||	989	0.197484	0.236	0.17	5008	,	,		16456	0.2768		0.0895	False		,,,				2504	0.1943				p.G218S		Atlas-SNP	.											.	WDR27	129	.	0			c.G652A						PASS	.	C	,SER/GLY	929,3345		97,735,1305	37	45	43		,652	4.1	1	6	dbSNP_127	43	740,7732		35,670,3531	yes	intron,missense	WDR27	NM_001202550.1,NM_182552.4	,56	132,1405,4836	TT,TC,CC		8.7347,21.7361,13.0943	,benign	,218/896	170068086	1669,11077	2137	4236	6373	SO:0001583	missense	253769	exon5			TAAAGCCTCTGTC	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.652G>A	6.37:g.170068086C>T	ENSP00000416289:p.Gly218Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	388	0.17765567765567766	99	0.20121951219512196	58	0.16022099447513813	158	0.2762237762237762	73	0.09630606860158311	C	6.941	0.543423	0.13250	0.217361	0.087347	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.57273	0.41;0.41	5.25	4.1	0.47936	.	0.385807	0.25827	N	0.028056	T	0.07007	0.0178	N	0.00746	-1.225	0.09310	P	0.9999999999990632	B;B	0.16396	0.003;0.017	B;B	0.13407	0.008;0.009	T	0.23013	-1.0200	9	0.12430	T	0.62	-17.128	9.4629	0.38796	0.0:0.0875:0.0:0.9125	rs41265385	218;218	F2Z2U5;C9JGV0	.;.	S	218	ENSP00000416289:G218S;ENSP00000330265:G218S	ENSP00000330265:G218S	G	-	1	0	WDR27	169810011	1.000000	0.71417	0.996000	0.52242	0.880000	0.50808	2.800000	0.47900	0.850000	0.35239	-0.302000	0.09304	GGC	C|0.840;T|0.160	0.160	strong		0.657	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		T	170068086	C	T	170068086	3	4	23	1	0	0	0	0	1	0	0	0	17281	681	24	2	2005	2	WDR27	6	170068086	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9712	170068086	1046981	1780	18236										
WDR27	253769	hgsc.bcm.edu	37	chr6	170070723	170070723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcaacaacatgatcatccAggctcaactgtaaacacagc	7	13	2	1	rs4236176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170070723A>G	ENST00000448612.1	-	4	507	c.398T>C	c.(397-399)cTg>cCg	p.L133P	WDR27_ENST00000333572.6_Missense_Mutation_p.L133P|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Missense_Mutation_p.L133P	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	133			L -> P (in dbSNP:rs4236176). {ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATGATCATCCAGGCTCAACTG	0.468													a|||	2691	0.53734	0.4803	0.5548	5008	,	,		16862	0.9365		0.2922	False		,,,				2504	0.4427				p.L133P		Atlas-SNP	.											.	WDR27	129	.	0			c.T398C						PASS	.	A	,PRO/LEU	1677,2209		358,961,624	123	123	123		,398	0.7	0	6	dbSNP_111	123	2170,6136		294,1582,2277	yes	intron,missense	WDR27	NM_001202550.1,NM_182552.4	,98	652,2543,2901	GG,GA,AA		26.1257,43.1549,31.5535	,benign	,133/896	170070723	3847,8345	1943	4153	6096	SO:0001583	missense	253769	exon4			TCATCCAGGCTCA	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.398T>C	6.37:g.170070723A>G	ENSP00000416289:p.Leu133Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	70	29	0.414286	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	1132	0.5183150183150184	202	0.4105691056910569	179	0.494475138121547	524	0.916083916083916	227	0.2994722955145119	a	0.086	-1.174843	0.01646	0.431549	0.261257	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.60299	1.73;2.37;0.2	5.52	0.661	0.17874	.	0.643068	0.15332	N	0.267927	T	0.05410	0.0143	N	0.00419	-1.52	0.51012	P	9.40000000000385E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	9	0.02654	T	1	-7.9112	9.8422	0.41006	0.3536:0.0:0.6464:0.0	rs4236176;rs17854047;rs17860914;rs61562734;rs4236176	133;133	F2Z2U5;C9JGV0	.;.	P	133	ENSP00000416289:L133P;ENSP00000330265:L133P;ENSP00000406114:L133P	ENSP00000330265:L133P	L	-	2	0	WDR27	169812648	0.509000	0.26163	0.000000	0.03702	0.050000	0.14768	0.527000	0.22987	-0.185000	0.10550	-0.362000	0.07510	CTG	A|0.485;G|0.515	0.515	strong		0.468	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		G	170070723	A	G	170070723	3	3	23	1	0	0	0	0	1	0	0	0	17281	188	7	3	2263	3	WDR27	6	170070723	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2637	170070723	1044344	1781	18237										
C6orf70	55780	hgsc.bcm.edu	37	chr6	170169688	170169688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtccccgcataagagatcAtttaagccacggggagatca	12	10	2	2	rs61738268	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170169688A>G	ENST00000366773.3	+	12	1145	c.1112A>G	c.(1111-1113)cAt>cGt	p.H371R	ERMARD_ENST00000392095.4_Missense_Mutation_p.H245R|ERMARD_ENST00000366772.2_Missense_Mutation_p.H371R|ERMARD_ENST00000418781.3_Missense_Mutation_p.H371R|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000588451.1_Missense_Mutation_p.H235R	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	371					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ATAAGAGATCATTTAAGCCAC	0.388													A|||	37	0.00738818	0.0	0.013	5008	,	,		16813	0.0		0.0119	False		,,,				2504	0.0164				p.H371R		Atlas-SNP	.											.	C6orf70	63	.	0			c.A1112G						PASS	.	A	ARG/HIS	5,4401		0,5,2198	58	54	56		1112	-4.5	0	6	dbSNP_129	56	108,8492		2,104,4194	yes	missense	C6orf70	NM_018341.1	29	2,109,6392	GG,GA,AA		1.2558,0.1135,0.8688	benign	371/679	170169688	113,12893	2203	4300	6503	SO:0001583	missense	55780	exon12			GAGATCATTTAAG	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1112A>G	6.37:g.170169688A>G	ENSP00000355735:p.His371Arg	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	61	25	0.409836	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	20	0.009157509157509158	0	0.0	8	0.022099447513812154	0	0.0	12	0.0158311345646438	.	0.029	-1.347487	0.01266	0.001135	0.012558	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.35605	1.3;1.36	5.34	-4.53	0.03462	.	0.650998	0.14673	N	0.305256	T	0.06690	0.0171	N	0.12502	0.225	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.003;0.001	T	0.34254	-0.9836	10	0.20519	T	0.43	.	15.5024	0.75709	0.816:0.0:0.184:0.0	rs61738268	371;371;371	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	R	371;371;371;245;19	ENSP00000355735:H371R;ENSP00000375945:H245R	ENSP00000355733:H19R	H	+	2	0	C6orf70	169911613	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-1.487000	0.02310	-0.732000	0.04856	-0.426000	0.05927	CAT	A|0.991;G|0.009	0.009	strong		0.388	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		G	170169688	A	G	170169688	3	3	23	1	0	0	0	0	1	0	0	0	2370	217	8	2	1158	2	C6orf70	6	170169688	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	98965	170169688	945379	1782	18238										
C6orf70	55780	hgsc.bcm.edu	37	chr6	170176146	170176146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgttaaaggacttggatcGtcttcctactgagacgtaag	11	7	1	1	rs41265401	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170176146G>A	ENST00000366773.3	+	15	1538	c.1505G>A	c.(1504-1506)cGt>cAt	p.R502H	ERMARD_ENST00000392095.4_Missense_Mutation_p.R376H|ERMARD_ENST00000366772.2_Missense_Mutation_p.R502H|ERMARD_ENST00000418781.3_Missense_Mutation_p.R502H|ERMARD_ENST00000588451.1_Missense_Mutation_p.R366H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	502					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GACTTGGATCGTCTTCCTACT	0.388													G|||	393	0.0784744	0.0764	0.0562	5008	,	,		21820	0.1022		0.0785	False		,,,				2504	0.0726				p.R502H		Atlas-SNP	.											.	C6orf70	63	.	0			c.G1505A						PASS	.	G	HIS/ARG	277,4129		7,263,1933	151	123	133		1505	-10.5	0	6	dbSNP_127	133	686,7914		30,626,3644	yes	missense	C6orf70	NM_018341.1	29	37,889,5577	AA,AG,GG		7.9767,6.2869,7.4043	benign	502/679	170176146	963,12043	2203	4300	6503	SO:0001583	missense	55780	exon15			TGGATCGTCTTCC	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1505G>A	6.37:g.170176146G>A	ENSP00000355735:p.Arg502His	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	143	54	0.377622	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	176	0.08058608058608059	27	0.054878048780487805	24	0.06629834254143646	65	0.11363636363636363	60	0.079155672823219	.	3.431	-0.116188	0.06881	0.062869	0.079767	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.42900	0.96;0.96	5.27	-10.5	0.00291	.	4.533170	0.00496	N	0.000154	T	0.04634	0.0126	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31888	-0.9927	9	0.40728	T	0.16	.	12.4976	0.55937	0.1824:0.2637:0.5539:0.0	rs41265401;rs61747676	502;502;502	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	H	502;502;502;376;150	ENSP00000355735:R502H;ENSP00000375945:R376H	ENSP00000355733:R150H	R	+	2	0	C6orf70	169918071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.948000	0.03897	-3.144000	0.00232	-1.533000	0.00918	CGT	G|0.925;A|0.075	0.075	strong		0.388	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		A	170176146	G	A	170176146	3	1	23	1	0	0	0	0	1	0	0	0	2370	1145	40	1	1563	1	C6orf70	6	170176146	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6458	170176146	938921	1783	18239										
PSMB1	5689	hgsc.bcm.edu	37	chr6	170862300	170862300	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catccccaagtctctgccagGagccgaatacatggctgtag	10	13	1	0	rs12717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr6:170862300G>C	ENST00000262193.6	-	1	129	c.31C>G	c.(31-33)Cct>Gct	p.P11A	TBP_ENST00000540980.1_5'Flank|TBP_ENST00000230354.6_5'Flank|PSMB1_ENST00000462957.1_5'Flank|TBP_ENST00000392092.2_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	11			P -> A (in dbSNP:rs12717). {ECO:0000269|PubMed:15489334}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TCTCTGCCAGGAGCCGAATAC	0.597													G|||	2254	0.45008	0.2708	0.3991	5008	,	,		17181	0.7728		0.4085	False		,,,				2504	0.4387				p.P11A		Atlas-SNP	.											.	PSMB1	12	.	0			c.C31G						PASS	.	G	ALA/PRO	1308,3098	433.1+/-343.5	184,940,1079	42	38	39		31	0.4	0	6	dbSNP_52	39	3350,5248	485.3+/-371.6	656,2038,1605	yes	missense	PSMB1	NM_002793.3	27	840,2978,2684	CC,CG,GG		38.9625,29.6868,35.8197	benign	11/242	170862300	4658,8346	2203	4299	6502	SO:0001583	missense	5689	exon1			TGCCAGGAGCCGA	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.31C>G	6.37:g.170862300G>C	ENSP00000262193:p.Pro11Ala	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	42	22	0.52381	NM_002793	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	1049	0.4803113553113553	143	0.29065040650406504	152	0.4198895027624309	450	0.7867132867132867	304	0.40105540897097625	G	10.34	1.324311	0.24080	0.296868	0.389625	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.24538	1.85	4.37	0.413	0.16401	.	1.016080	0.07851	N	0.964623	T	0.04227	0.0117	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	9	0.25751	T	0.34	0.0024	6.0254	0.19652	0.1757:0.2916:0.5328:0.0	rs12717;rs1049686;rs3189890;rs17354871;rs17655245;rs17849329;rs17860781;rs52804979;rs60717301;rs12717	11	P20618	PSB1_HUMAN	A	11;16	ENSP00000262193:P11A	ENSP00000262193:P11A	P	-	1	0	PSMB1	170704225	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.024000	0.13555	-0.128000	0.11641	0.563000	0.77884	CCT	G|0.580;C|0.420	0.420	strong		0.597	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		C	170862300	G	C	170862300	3	2	23	1	0	0	0	0	1	0	0	0	12674	1174	41	4	718	4	PSMB1	6	170862300	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	686154	170862300	252767	1784	18240										
HEATR2	54919	hgsc.bcm.edu	37	chr7	796430	796430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcgcagtgtaccagatcCgcagagctcgtcgggacgtt	12	12	1	2	rs73036225	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:796430C>T	ENST00000297440.6	+	6	1289	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	HEATR2_ENST00000313147.5_Silent_p.S423S	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	423						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTACCAGATCCGCAGAGCTCG	0.597													c|||	473	0.0944489	0.0129	0.1066	5008	,	,		18605	0.0		0.2127	False		,,,				2504	0.1718				p.S423S		Atlas-SNP	.											.	HEATR2	62	.	0			c.C1269T						PASS	.			224,4182	134.1+/-170.4	5,214,1984	87	88	87		1269	-11	0	7	dbSNP_130	87	1948,6652	339.0+/-323.0	232,1484,2584	no	coding-synonymous	HEATR2	NM_017802.3		237,1698,4568	TT,TC,CC		22.6512,5.084,16.7		423/856	796430	2172,10834	2203	4300	6503	SO:0001819	synonymous_variant	54919	exon6			CAGATCCGCAGAG	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1269C>T	7.37:g.796430C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	125	67	0.536	NM_017802	Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	CCDS34580.1	206	0.09432234432234432	7	0.014227642276422764	33	0.09116022099447514	0	0.0	166	0.21899736147757257	C	4.574	0.106613	0.08780	0.05084	0.226512	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999992945	.	.	.	.	.	.	T	0.07635	-1.0762	3	.	.	.	-15.5902	10.2483	0.43354	0.1267:0.621:0.065:0.1874	.	.	.	.	C	225	.	.	R	+	1	0	HEATR2	762956	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	-1.344000	0.02639	-3.807000	0.00104	-2.136000	0.00340	CGC	C|0.850;T|0.150	0.150	strong		0.597	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		T	796430	C	T	796430	2	4	23	1	0	0	0	0	0	0	0	1	7028	639	23	1		1	HEATR2	7	796430	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10		796430	158342233	1785	18241										
HEATR2	54919	hgsc.bcm.edu	37	chr7	810219	810219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttctccatcctgtccaccgTgctgctcagagccacggaca	9	16	2	1	rs4720951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:810219T>C	ENST00000297440.6	+	9	1915	c.1895T>C	c.(1894-1896)gTg>gCg	p.V632A	HEATR2_ENST00000403952.3_Missense_Mutation_p.V57A|HEATR2_ENST00000313147.5_Missense_Mutation_p.V632A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	632			V -> A (in dbSNP:rs4720951).			cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTCCACCGTGCTGCTCAGA	0.682													T|||	1960	0.391374	0.3578	0.4395	5008	,	,		15713	0.3532		0.4632	False		,,,				2504	0.3681				p.V632A		Atlas-SNP	.											HEATR2,colon,carcinoma,-1,1	HEATR2	62	1	0			c.T1895C						PASS	.		ALA/VAL	1569,2837	489.2+/-361.4	285,999,919	75	61	66		1895	3.5	0.6	7	dbSNP_111	66	4049,4551	556.9+/-386.9	945,2159,1196	yes	missense	HEATR2	NM_017802.3	64	1230,3158,2115	CC,CT,TT		47.0814,35.6105,43.1954	benign	632/856	810219	5618,7388	2203	4300	6503	SO:0001583	missense	54919	exon9			CCACCGTGCTGCT	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1895T>C	7.37:g.810219T>C	ENSP00000297440:p.Val632Ala	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	190	81	0.426316	NM_017802	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	915	0.41895604395604397	215	0.4369918699186992	157	0.43370165745856354	203	0.3548951048951049	340	0.44854881266490765	T	9.151	1.016258	0.19355	0.356105	0.470814	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.67171	-0.25;-0.25;-0.25	4.7	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (1);	0.733999	0.12874	N	0.432019	T	0.00012	0.0000	L	0.43152	1.355	0.39575	P	0.030664000000000025	B;B;B	0.15719	0.014;0.002;0.006	B;B;B	0.09377	0.003;0.003;0.004	T	0.37478	-0.9704	9	0.49607	T	0.09	-7.7725	9.7282	0.40344	0.0:0.0837:0.0:0.9163	rs4720951;rs11547678;rs17293410;rs4720951	632;57;378	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	A	632;632;378;57	ENSP00000297440:V632A;ENSP00000321451:V632A;ENSP00000384884:V57A	ENSP00000297440:V632A	V	+	2	0	HEATR2	776745	0.999000	0.42202	0.590000	0.28732	0.025000	0.11179	3.805000	0.55575	0.662000	0.31006	0.533000	0.62120	GTG	T|0.578;C|0.422	0.422	strong		0.682	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		C	810219	T	C	810219	3	2	23	1	0	0	0	0	1	0	0	0	7028	1696	59	2	1929	2	HEATR2	7	810219	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	13789	810219	158328444	1786	18242										
CYP2W1	54905	hgsc.bcm.edu	37	chr7	1023013	1023013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcgcaacaggaccggtccCtgatggaggtaagtcaggga	15	9	1	1	rs2272375	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:1023013C>T	ENST00000308919.7	+	1	179	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	CYP2W1_ENST00000340150.6_5'UTR	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	56					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGACCGGTCCCTGATGGAGGT	0.711													C|||	1804	0.360224	0.5098	0.3343	5008	,	,		12799	0.3115		0.2744	False		,,,				2504	0.3149				p.L56L		Atlas-SNP	.											.	CYP2W1	28	.	0			c.C166T						PASS	.	C		1532,2094		347,838,628	11	10	10		166	4.5	0.8	7	dbSNP_100	10	1881,5021		306,1269,1876	no	coding-synonymous	CYP2W1	NM_017781.2		653,2107,2504	TT,TC,CC		27.253,42.2504,32.4183		56/491	1023013	3413,7115	1813	3451	5264	SO:0001819	synonymous_variant	54905	exon1			CGGTCCCTGATGG	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.166C>T	7.37:g.1023013C>T		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	24	18	0.75	NM_017781		Silent	SNP	ENST00000308919.7	37	CCDS5319.2																																																																																			C|0.645;T|0.355	0.355	strong		0.711	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		T	1023013	C	T	1023013	2	4	23	1	0	0	0	0	0	0	0	1	4176	680	24	2		2	CYP2W1	7	1023013	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	212794	1023013	158115650	1787	18243										
GPR146	115330	hgsc.bcm.edu	37	chr7	1097394	1097394	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctcagcgccctggccccTgtgcacctgctcggcccccc	11	21	1	0	rs11767527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:1097394T>C	ENST00000397095.1	+	2	466	c.243T>C	c.(241-243)ccT>ccC	p.P81P	GPR146_ENST00000297468.3_Silent_p.P81P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P81P(2)		autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCCTGGCCCCTGTGCACCTGC	0.652													t|||	345	0.0688898	0.0204	0.0821	5008	,	,		18317	0.0		0.1262	False		,,,				2504	0.137				p.P81P		Atlas-SNP	.											GPR146,NS,carcinoma,0,3	GPR146	20	3	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	c.T243C						scavenged	.		,,,	200,4200	116.3+/-154.2	3,194,2003	34	31	32		,,,243	-7.6	0	7	dbSNP_120	32	1339,7259	240.0+/-270.9	102,1135,3062	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	105,1329,5065	CC,CT,TT		15.5734,4.5455,11.8403	,,,	,,,81/334	1097394	1539,11459	2200	4299	6499	SO:0001819	synonymous_variant	115330	exon1			GGCCCCTGTGCAC	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.243T>C	7.37:g.1097394T>C		Somatic	76	1	0.0131579		WXS	Illumina HiSeq	Phase_I	31	12	0.387097	NM_138445	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			T|0.898;C|0.102	0.102	strong		0.652	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		C	1097394	T	C	1097394	2	2	23	1	0	0	0	0	0	0	0	1	6652	1567	55	3		3	GPR146	7	1097394	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	74381	1097394	158041269	1788	18244										
GPR146	115330	hgsc.bcm.edu	37	chr7	1097895	1097895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtttgggctctggacgccAcactatctgatcctgctggg	12	12	2	1	rs61910751	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:1097895A>G	ENST00000397095.1	+	2	967	c.744A>G	c.(742-744)ccA>ccG	p.P248P	GPR146_ENST00000297468.3_Silent_p.P248P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCTGGACGCCACACTATCTGA	0.647													G|||	345	0.0688898	0.0204	0.0821	5008	,	,		17834	0.0		0.1262	False		,,,				2504	0.137				p.P248P		Atlas-SNP	.											.	GPR146	20	.	0			c.A744G						PASS	.		,,,	206,4198	800.2+/-415.6	2,202,1998	59	48	52		,,,744	-10.2	0	7	dbSNP_129	52	1354,7244	751.8+/-407.4	106,1142,3051	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	108,1344,5049	GG,GA,AA		15.7478,4.6776,11.9982	,,,	,,,248/334	1097895	1560,11442	2202	4299	6501	SO:0001819	synonymous_variant	115330	exon1			GACGCCACACTAT	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.744A>G	7.37:g.1097895A>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	41	26	0.634146	NM_138445	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			A|0.893;G|0.106;T|0.000	0.106	strong		0.647	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		G	1097895	A	G	1097895	2	3	23	1	0	0	0	0	0	0	0	1	6652	146	6	2		2	GPR146	7	1097895	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	501	1097895	158040768	1789	18245										
GPER	2852	hgsc.bcm.edu	37	chr7	1131411	1131411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgggcctggagatgtaccCaggcaccgcgcagcctgcgg	16	14	0	1	rs11544331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:1131411C>T	ENST00000297469.3	+	2	738	c.47C>T	c.(46-48)cCa>cTa	p.P16L	GPER1_ENST00000397092.1_Missense_Mutation_p.P16L|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.P16L|GPER1_ENST00000397088.3_Missense_Mutation_p.P16L|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	16			P -> L (in dbSNP:rs11544331). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851}.		apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										GAGATGTACCCAGGCACCGCG	0.652													C|||	696	0.138978	0.1021	0.2104	5008	,	,		16292	0.0248		0.2048	False		,,,				2504	0.1881				p.P16L		Atlas-SNP	.											.	GPER	25	.	0			c.C47T						PASS	.		LEU/PRO,LEU/PRO,,,LEU/PRO,	507,3897	232.0+/-245.7	34,439,1729	53	57	55		47,47,,,47,	-0.1	0	7	dbSNP_120	55	2106,6494	358.5+/-331.2	276,1554,2470	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	98,98,,,98,	310,1993,4199	TT,TC,CC		24.4884,11.5123,20.0938	benign,benign,,,benign,	16/376,16/376,,,16/376,	1131411	2613,10391	2202	4300	6502	SO:0001583	missense	2852	exon2			TGTACCCAGGCAC	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.47C>T	7.37:g.1131411C>T	ENSP00000297469:p.Pro16Leu	Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	191	121	0.633508	NM_001505	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	CCDS5322.1	319	0.14606227106227107	70	0.14227642276422764	66	0.18232044198895028	19	0.033216783216783216	164	0.21635883905013192	C	10.93	1.490502	0.26686	0.115123	0.244884	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67171	-0.25;1.03;-0.25;-0.25;-0.25	5.02	-0.101	0.13618	.	0.664049	0.13173	N	0.408117	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.09640	-1.0665	9	0.31617	T	0.26	.	8.8766	0.35350	0.0:0.5996:0.0:0.4004	rs11544331;rs17850769	16	Q99527	GPER_HUMAN	L	16	ENSP00000385151:P16L;ENSP00000410487:P16L;ENSP00000380281:P16L;ENSP00000297469:P16L;ENSP00000380277:P16L	ENSP00000297469:P16L	P	+	2	0	GPER	1097937	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.053000	0.14184	-0.347000	0.08299	0.655000	0.94253	CCA	C|0.808;T|0.192	0.192	strong		0.652	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		T	1131411	C	T	1131411	3	4	23	1	0	0	0	0	1	0	0	0	6607	594	21	2	49	2	GPER	7	1131411	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	33516	1131411	158007252	1790	18246										
MAD1L1	8379	hgsc.bcm.edu	37	chr7	2020125	2020125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccctggagaacaggaagcTctgttcggcagagctggact	13	11	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2020125T>C	ENST00000406869.1	-	15	2025	c.1468A>G	c.(1468-1470)Agc>Ggc	p.S490G	MAD1L1_ENST00000265854.7_Missense_Mutation_p.S490G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.S398G|MAD1L1_ENST00000399654.2_Missense_Mutation_p.S490G			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	490	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.S490G(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AACAGGAAGCTCTGTTCGGCA	0.612																																					p.S490G		Atlas-SNP	.											MAD1L1,NS,carcinoma,0,1	MAD1L1	81	1	1	Substitution - Missense(1)	endometrium(1)	c.A1468G						scavenged	.						32	35	34					7																	2020125		2028	4167	6195	SO:0001583	missense	8379	exon15			GGAAGCTCTGTTC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1468A>G	7.37:g.2020125T>C	ENSP00000385334:p.Ser490Gly	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	98	3	0.0306122	NM_003550	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	9.739	1.164308	0.21538	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.78364	2.12;2.12;2.12;2.12;2.12;-1.17	5.09	2.71	0.32032	.	0.120467	0.85682	N	0.000000	T	0.73575	0.3604	L	0.52126	1.63	0.27055	N	0.963692	D;D;P	0.61697	0.99;0.99;0.943	P;P;B	0.50708	0.595;0.648;0.372	T	0.63699	-0.6578	10	0.27785	T	0.31	-21.3733	6.4918	0.22119	0.0:0.1967:0.0:0.8033	.	489;398;490	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	G	398;490;490;41;490;41;157;80	ENSP00000384155:S398G;ENSP00000382562:S490G;ENSP00000385334:S490G;ENSP00000265854:S490G;ENSP00000394886:S41G;ENSP00000414877:S157G	ENSP00000265854:S490G	S	-	1	0	MAD1L1	1986651	0.837000	0.29446	0.357000	0.25798	0.170000	0.22686	1.032000	0.30178	0.291000	0.22468	0.533000	0.62120	AGC	.	.	none		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		C	2020125	T	C	2020125	3	2	23	1	0	0	0	0	1	0	0	0	9147	1551	54	3	708	3	MAD1L1	7	2020125	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	888714	2020125	157118538	1791	18247										
C7orf27	221927	hgsc.bcm.edu	37	chr7	2577781	2577781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagggactggggactcttTtccacgtggtcgctgctctc	14	11	2	0	rs1043291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2577781T>C	ENST00000340611.4	-	14	2644	c.2388A>G	c.(2386-2388)gaA>gaG	p.E796E	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	796					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGGACTCTTTTCCACGTGGT	0.667													C|||	2311	0.461462	0.7352	0.4121	5008	,	,		17797	0.3661		0.3519	False		,,,				2504	0.3374				p.E796E		Atlas-SNP	.											BRAT1,NS,carcinoma,0,4	BRAT1	57	4	0			c.A2388G						PASS	.	C		2809,1561		929,951,305	26	25	25		2388	3.6	1	7	dbSNP_86	25	2832,5676		502,1828,1924	yes	coding-synonymous	BRAT1	NM_152743.3		1431,2779,2229	CC,CT,TT		33.2863,35.7208,43.8034		796/822	2577781	5641,7237	2185	4254	6439	SO:0001819	synonymous_variant	221927	exon14			ACTCTTTTCCACG	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2388A>G	7.37:g.2577781T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	81	21	0.259259	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																			T|0.555;C|0.445	0.445	strong		0.667	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		C	2577781	T	C	2577781	2	2	23	1	0	0	0	0	0	0	0	1	2382	1838	64	2		2	C7orf27	7	2577781	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	557656	2577781	156560882	1792	18248										
C7orf27	221927	hgsc.bcm.edu	37	chr7	2577809	2577809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcgctgctctcggccagcGtgctccgcaggccctccagg	14	17	1	0	rs375916445		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2577809G>A	ENST00000340611.4	-	14	2616	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	787					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTCGGCCAGCGTGCTCCGCAG	0.701																																					p.T787M		Atlas-SNP	.											.	BRAT1	57	.	0			c.C2360T						PASS	.						22	22	22					7																	2577809		2187	4272	6459	SO:0001583	missense	221927	exon14			GCCAGCGTGCTCC	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2360C>T	7.37:g.2577809G>A	ENSP00000339637:p.Thr787Met	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	53	0.736111	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	9.550	1.115689	0.20795	.	.	ENSG00000106009	ENST00000340611	T	0.30981	1.51	5.42	4.53	0.55603	.	0.648485	0.17239	N	0.181608	T	0.24851	0.0603	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.05209	-1.0899	10	0.34782	T	0.22	-11.8434	10.0764	0.42362	0.0:0.189:0.6795:0.1314	.	787	Q6PJG6	BRAT1_HUMAN	M	787	ENSP00000339637:T787M	ENSP00000339637:T787M	T	-	2	0	BRAT1	2544335	0.005000	0.15991	0.006000	0.13384	0.041000	0.13682	1.359000	0.34113	1.239000	0.43787	0.561000	0.74099	ACG	.	.	weak		0.701	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2577809	G	A	2577809	3	1	23	1	0	0	0	0	1	0	0	0	2382	1145	40	1	109	1	C7orf27	7	2577809	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28	2577809	156560854	1793	18249										
C7orf27	221927	hgsc.bcm.edu	37	chr7	2583328	2583328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccgcacccacagggcttcCgtccaggggctctggcagcg	14	16	1	0	rs61753095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2583328C>T	ENST00000340611.4	-	5	955	c.699G>A	c.(697-699)acG>acA	p.T233T	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	233					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						ACAGGGCTTCCGTCCAGGGGC	0.662													C|||	482	0.096246	0.0106	0.1859	5008	,	,		13569	0.0079		0.1819	False		,,,				2504	0.1513				p.T233T		Atlas-SNP	.											BRAT1,NS,carcinoma,0,1	BRAT1	57	1	0			c.G699A						PASS	.	C		207,4199	122.1+/-159.5	7,193,2003	35	42	40		699	-11.4	0	7	dbSNP_129	40	1761,6837	307.3+/-308.3	179,1403,2717	no	coding-synonymous	BRAT1	NM_152743.3		186,1596,4720	TT,TC,CC		20.4815,4.6981,15.1338		233/822	2583328	1968,11036	2203	4299	6502	SO:0001819	synonymous_variant	221927	exon5			GGCTTCCGTCCAG	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.699G>A	7.37:g.2583328C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	154	59	0.383117	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																			C|0.871;T|0.129	0.129	strong		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		T	2583328	C	T	2583328	2	4	23	1	0	0	0	0	0	0	0	1	2382	639	23	1		1	C7orf27	7	2583328	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5519	2583328	156555335	1794	18250										
IQCE	23288	hgsc.bcm.edu	37	chr7	2644519	2644519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttccttccctgacaggcggCtgtggtgcttcaggcagctt	12	13	1	1	rs2293404	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2644519C>T	ENST00000402050.2	+	19	1821	c.1637C>T	c.(1636-1638)gCt>gTt	p.A546V	IQCE_ENST00000438376.2_Missense_Mutation_p.A530V|IQCE_ENST00000325979.7_Missense_Mutation_p.A481V|IQCE_ENST00000404984.1_Missense_Mutation_p.A495V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	546	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.		A -> V (in dbSNP:rs2293404).			mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TGACAGGCGGCTGTGGTGCTT	0.642													C|||	2062	0.411741	0.3956	0.4625	5008	,	,		18690	0.495		0.326	False		,,,				2504	0.3998				p.A546V		Atlas-SNP	.											IQCE,NS,carcinoma,0,1	IQCE	66	1	0			c.C1637T						PASS	.	C	VAL/ALA,VAL/ALA	1489,2673		282,925,874	43	49	47		1589,1637	4.9	0	7	dbSNP_100	47	2309,6123		307,1695,2214	yes	missense,missense	IQCE	NM_001100390.1,NM_152558.3	64,64	589,2620,3088	TT,TC,CC		27.3838,35.7761,30.1572	benign,benign	530/680,546/696	2644519	3798,8796	2081	4216	6297	SO:0001583	missense	23288	exon19			AGGCGGCTGTGGT	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1637C>T	7.37:g.2644519C>T	ENSP00000385597:p.Ala546Val	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	83	27	0.325301	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	CCDS43542.1	878	0.40201465201465203	187	0.3800813008130081	144	0.39779005524861877	298	0.5209790209790209	249	0.32849604221635886	C	7.940	0.742568	0.15642	0.357761	0.273838	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.9	4.9	0.64082	.	0.472269	0.21142	N	0.079466	T	0.00012	0.0000	L	0.46741	1.465	0.58432	P	1.0000000000287557E-6	B;B;P;P	0.38745	0.187;0.187;0.645;0.592	B;B;B;B	0.40444	0.19;0.176;0.329;0.221	T	0.51585	-0.8687	9	0.39692	T	0.17	-6.2302	13.6658	0.62393	0.0:1.0:0.0:0.0	rs2293404;rs52800467;rs61534484;rs2293404	481;530;546;530	B4DXN1;B4DDX4;Q6IPM2;Q6IPM2-4	.;.;IQCE_HUMAN;.	V	546;495;530;481;126	ENSP00000385597:A546V;ENSP00000385945:A495V;ENSP00000396178:A530V;ENSP00000313772:A481V;ENSP00000405982:A126V	ENSP00000313772:A481V	A	+	2	0	IQCE	2611045	0.889000	0.30405	0.031000	0.17742	0.630000	0.37929	2.567000	0.45956	2.286000	0.76751	0.650000	0.86243	GCT	C|0.622;T|0.378	0.378	strong		0.642	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		T	2644519	C	T	2644519	3	4	23	1	0	0	0	0	1	0	0	0	7806	797	28	2	1711	2	IQCE	7	2644519	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	61191	2644519	156494144	1795	18251										
IQCE	23288	hgsc.bcm.edu	37	chr7	2645526	2645526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagagctctcctgtgccccGcgttccgagccccatcgccc	9	21	1	1	rs10950797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:2645526G>A	ENST00000402050.2	+	20	1944	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	IQCE_ENST00000438376.2_Missense_Mutation_p.R571H|IQCE_ENST00000325979.7_Missense_Mutation_p.R522H|IQCE_ENST00000404984.1_Missense_Mutation_p.R536H	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	587			R -> H (in dbSNP:rs10950797).			mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCTGTGCCCCGCGTTCCGAGC	0.701													G|||	1277	0.254992	0.1135	0.2882	5008	,	,		11500	0.4415		0.1531	False		,,,				2504	0.3354				p.R587H		Atlas-SNP	.											IQCE,NS,carcinoma,+1,1	IQCE	66	1	0			c.G1760A						scavenged	.	G	HIS/ARG,HIS/ARG	447,3701		27,393,1654	26	32	30		1712,1760	-0.4	0	7	dbSNP_120	30	1087,7303		60,967,3168	no	missense,missense	IQCE	NM_001100390.1,NM_152558.3	29,29	87,1360,4822	AA,AG,GG		12.9559,10.7763,12.2348	benign,benign	571/680,587/696	2645526	1534,11004	2074	4195	6269	SO:0001583	missense	23288	exon20			TGCCCCGCGTTCC	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1760G>A	7.37:g.2645526G>A	ENSP00000385597:p.Arg587His	Somatic	266	2	0.0075188		WXS	Illumina HiSeq	Phase_I	313	89	0.284345	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	CCDS43542.1	527	0.2413003663003663	64	0.13008130081300814	90	0.24861878453038674	257	0.4493006993006993	116	0.15303430079155672	G	7.761	0.705496	0.15172	0.107763	0.129559	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.25579	2.65;2.64;2.65;2.65;1.79	4.79	-0.411	0.12370	.	1.266030	0.05323	N	0.527013	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B;B;B	0.12630	0.004;0.006;0.004;0.003	B;B;B;B	0.08055	0.001;0.001;0.002;0.003	T	0.43294	-0.9400	9	0.06891	T	0.86	1.1401	4.4147	0.11450	0.277:0.3155:0.4075:0.0	rs10950797;rs58914059;rs10950797	522;571;587;571	B4DXN1;B4DDX4;Q6IPM2;Q6IPM2-4	.;.;IQCE_HUMAN;.	H	587;536;571;522;167	ENSP00000385597:R587H;ENSP00000385945:R536H;ENSP00000396178:R571H;ENSP00000313772:R522H;ENSP00000405982:R167H	ENSP00000313772:R522H	R	+	2	0	IQCE	2612052	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.250000	0.02885	-0.075000	0.12798	-0.254000	0.11334	CGC	G|0.768;A|0.232	0.232	strong		0.701	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		A	2645526	G	A	2645526	3	1	23	1	0	0	0	0	1	0	0	0	7806	1087	38	1	1838	1	IQCE	7	2645526	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1007	2645526	156493137	1796	18252										
SDK1	221935	hgsc.bcm.edu	37	chr7	4026944	4026944	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttattacatcgtggagctCtctgaaaacagtaagtagca	8	8	1	1	rs7785899	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4026944C>G	ENST00000404826.2	+	14	2260	c.2121C>G	c.(2119-2121)ctC>ctG	p.L707L	SDK1_ENST00000389531.3_Silent_p.L707L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	707	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGTGGAGCTCTCTGAAAACA	0.458													G|||	2114	0.422125	0.7451	0.3718	5008	,	,		20231	0.1647		0.2942	False		,,,				2504	0.4182				p.L707L		Atlas-SNP	.											.	SDK1	361	.	0			c.C2121G						PASS	.	G		3069,1337	446.7+/-348.1	1081,907,215	130	132	131		2121	1.2	0.9	7	dbSNP_116	131	2946,5654	668.5+/-402.6	533,1880,1887	no	coding-synonymous	SDK1	NM_152744.3		1614,2787,2102	GG,GC,CC		34.2558,30.345,46.2479		707/2214	4026944	6015,6991	2203	4300	6503	SO:0001819	synonymous_variant	221935	exon14			GGAGCTCTCTGAA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2121C>G	7.37:g.4026944C>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	165	163	0.987879	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																			C|0.566;G|0.434	0.434	strong		0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		G	4026944	C	G	4026944	2	3	23	1	0	0	0	0	0	0	0	1	13968	900	32	4		4	SDK1	7	4026944	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1381418	4026944	155111719	1797	18253										
SDK1	221935	hgsc.bcm.edu	37	chr7	4050731	4050731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggcaggggccagtacagCgccgagacaagcaggtgcgt	18	10	0	1	rs61752593	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4050731C>T	ENST00000404826.2	+	15	2404	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	SDK1_ENST00000389531.3_Silent_p.S755S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	755	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCAGTACAGCGCCGAGACAA	0.607													C|||	465	0.0928514	0.0469	0.1081	5008	,	,		17111	0.0595		0.1312	False		,,,				2504	0.1391				p.S755S		Atlas-SNP	.											.	SDK1	361	.	0			c.C2265T						PASS	.	C		295,4111	160.3+/-192.7	4,287,1912	35	31	33		2265	1.1	0.6	7	dbSNP_129	33	1388,7212	266.1+/-286.5	119,1150,3031	no	coding-synonymous	SDK1	NM_152744.3		123,1437,4943	TT,TC,CC		16.1395,6.6954,12.9402		755/2214	4050731	1683,11323	2203	4300	6503	SO:0001819	synonymous_variant	221935	exon15			GTACAGCGCCGAG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2265C>T	7.37:g.4050731C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	76	44	0.578947	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																			C|0.882;T|0.118	0.118	strong		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4050731	C	T	4050731	2	4	23	1	0	0	0	0	0	0	0	1	13968	767	27	1		1	SDK1	7	4050731	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	23787	4050731	155087932	1798	18254										
RADIL	55698	hgsc.bcm.edu	37	chr7	4874420	4874420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcagcgtgtcctccaggtGgggctcaaactccaggagca	13	13	1	0	rs2292498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4874420G>C	ENST00000399583.3	-	4	1421	c.1234C>G	c.(1234-1236)Cac>Gac	p.H412D	RADIL_ENST00000538469.1_Missense_Mutation_p.H172D|RADIL_ENST00000536091.1_Missense_Mutation_p.H412D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	412			H -> D (in dbSNP:rs2292498). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCCTCCAGGTGGGGCTCAAAC	0.716													G|||	1259	0.251398	0.0401	0.2853	5008	,	,		9176	0.3294		0.2873	False		,,,				2504	0.3957				p.H412D		Atlas-SNP	.											.	RADIL	110	.	0			c.C1234G						PASS	.	G	ASP/HIS	299,3725		19,261,1732	12	15	14		1234	2.6	0	7	dbSNP_100	14	2520,5808		397,1726,2041	yes	missense	RADIL	NM_018059.4	81	416,1987,3773	CC,CG,GG		30.2594,7.4304,22.8222	benign	412/1076	4874420	2819,9533	2012	4164	6176	SO:0001583	missense	55698	exon4			CCAGGTGGGGCTC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1234C>G	7.37:g.4874420G>C	ENSP00000382492:p.His412Asp	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	116	38	0.327586	NM_018059	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	526	0.24084249084249085	22	0.044715447154471545	94	0.2596685082872928	195	0.3409090909090909	215	0.2836411609498681	-	0.008	-1.905182	0.00512	0.074304	0.302594	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.21031	3.45;2.03;3.37	4.45	2.56	0.30785	.	1.666850	0.02995	N	0.147315	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43261	-0.9402	9	0.11794	T	0.64	-5.6915	8.1854	0.31335	0.1638:0.6284:0.2079:0.0	rs2292498;rs2292498	412	Q96JH8	RADIL_HUMAN	D	412;383;146;412;172	ENSP00000382492:H412D;ENSP00000442533:H412D;ENSP00000442966:H172D	ENSP00000320946:H383D	H	-	1	0	RADIL	4840946	0.095000	0.21747	0.004000	0.12327	0.011000	0.07611	1.196000	0.32198	0.291000	0.22468	-0.218000	0.12543	CAC	G|0.754;C|0.246	0.246	strong		0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		C	4874420	G	C	4874420	3	2	23	1	0	0	0	0	1	0	0	0	12997	1348	47	4	2041	4	RADIL	7	4874420	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	823689	4874420	154264243	1799	18255										
RADIL	55698	hgsc.bcm.edu	37	chr7	4876057	4876057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcgagtaccgcatggcgtCggggccgggctcctcggggc	18	14	0	0	rs3763384	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4876057C>T	ENST00000399583.3	-	3	902	c.715G>A	c.(715-717)Gac>Aac	p.D239N	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.D239N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	239			D -> N (in dbSNP:rs3763384). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:19690332}.		multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGCATGGCGTCGGGGCCGGGC	0.706													C|||	1257	0.250998	0.0401	0.2853	5008	,	,		13192	0.3264		0.2873	False		,,,				2504	0.3967				p.D239N		Atlas-SNP	.											.	RADIL	110	.	0			c.G715A						PASS	.	C	ASN/ASP	305,3815		19,267,1774	13	20	18		715	4.8	0.1	7	dbSNP_107	18	2586,5772		412,1762,2005	yes	missense	RADIL	NM_018059.4	23	431,2029,3779	TT,TC,CC		30.9404,7.4029,23.1688	benign	239/1076	4876057	2891,9587	2060	4179	6239	SO:0001583	missense	55698	exon3			TGGCGTCGGGGCC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.715G>A	7.37:g.4876057C>T	ENSP00000382492:p.Asp239Asn	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_018059	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	524	0.23992673992673993	22	0.044715447154471545	94	0.2596685082872928	195	0.3409090909090909	213	0.28100263852242746	C	10.16	1.274597	0.23307	0.074029	0.309404	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.24538	3.27;1.85	4.85	4.85	0.62838	.	0.607882	0.16897	N	0.195056	T	0.00012	0.0000	L	0.35414	1.06	0.80722	P	0.0	P	0.39782	0.688	B	0.25291	0.059	T	0.45411	-0.9263	9	0.14252	T	0.57	-25.6462	10.7848	0.46398	0.0:0.9079:0.0:0.0921	rs3763384;rs58768759;rs3763384	239	Q96JH8	RADIL_HUMAN	N	239;213;239	ENSP00000382492:D239N;ENSP00000442533:D239N	ENSP00000320946:D213N	D	-	1	0	RADIL	4842583	0.018000	0.18449	0.055000	0.19348	0.004000	0.04260	0.996000	0.29719	2.243000	0.73865	0.462000	0.41574	GAC	C|0.745;T|0.255	0.255	strong		0.706	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		T	4876057	C	T	4876057	3	4	23	1	0	0	0	0	1	0	0	0	12997	884	31	1	2564	1	RADIL	7	4876057	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1637	4876057	154262606	1800	18256										
PAPOLB	56903	hgsc.bcm.edu	37	chr7	4900095	4900095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaatgctgagaatttcagaAttatctggcttttttagccc	7	8	3	2	rs1553960	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4900095A>G	ENST00000404991.1	-	1	1530	c.1344T>C	c.(1342-1344)aaT>aaC	p.N448N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	448					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.N448N(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAATTTCAGAATTATCTGGCT	0.383													G|||	2269	0.453075	0.5537	0.3559	5008	,	,		21126	0.4117		0.341	False		,,,				2504	0.544				p.N449N		Atlas-SNP	.											PAPOLB,NS,carcinoma,0,1	PAPOLB	93	1	1	Substitution - coding silent(1)	stomach(1)	c.T1347C						PASS	.	G	,	2235,2083		607,1021,531	101	107	105		,1347	1.5	0.6	7	dbSNP_88	105	3327,5245		628,2071,1587	yes	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	1235,3092,2118	GG,GA,AA		38.8124,48.2399,43.1497	,	,449/638	4900095	5562,7328	2159	4286	6445	SO:0001819	synonymous_variant	56903	exon1			TTCAGAATTATCT	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1344T>C	7.37:g.4900095A>G		Somatic	302	1	0.00331126		WXS	Illumina HiSeq	Phase_I	399	153	0.383459	NM_020144	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																				A|0.574;G|0.426	0.426	strong		0.383	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		G	4900095	A	G	4900095	2	3	23	1	0	0	0	0	0	0	0	1	11430	98	4	2		2	PAPOLB	7	4900095	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	24038	4900095	154238568	1801	18257										
PAPOLB	56903	hgsc.bcm.edu	37	chr7	4900341	4900341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttgtacttttgaaagaaGcttggagcttcaaagagttt	10	5	1	3	rs17135247	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4900341G>A	ENST00000404991.1	-	1	1284	c.1098C>T	c.(1096-1098)agC>agT	p.S366S	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	366					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTTGAAAGAAGCTTGGAGCTT	0.418													G|||	1179	0.235423	0.0325	0.2622	5008	,	,		20833	0.3105		0.2515	False		,,,				2504	0.3967				p.S367S		Atlas-SNP	.											PAPOLB_ENST00000404991,NS,carcinoma,-1,2	PAPOLB	93	2	0			c.C1101T						PASS	.	G	,	281,4119	146.5+/-181.1	9,263,1928	128	130	129		,1101	4.5	1	7	dbSNP_123	129	2363,6237	387.8+/-342.3	330,1703,2267	no	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	339,1966,4195	AA,AG,GG		27.4767,6.3864,20.3385	,	,367/638	4900341	2644,10356	2200	4300	6500	SO:0001819	synonymous_variant	56903	exon1			AAAGAAGCTTGGA	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1098C>T	7.37:g.4900341G>A		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	342	108	0.315789	NM_020144	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																				G|0.777;A|0.223	0.223	strong		0.418	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		A	4900341	G	A	4900341	2	1	23	1	0	0	0	0	0	0	0	1	11430	962	34	2		2	PAPOLB	7	4900341	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	246	4900341	154238322	1802	18258										
PAPOLB	56903	hgsc.bcm.edu	37	chr7	4901385	4901385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgaggagacgccgtagcgAttcggcggcggcgccggctg	20	12	0	1	rs3750009	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:4901385A>C	ENST00000404991.1	-	1	240	c.54T>G	c.(52-54)aaT>aaG	p.N18K	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	18					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGCCGTAGCGATTCGGCGGCG	0.672													C|||	2479	0.495008	0.708	0.3689	5008	,	,		13116	0.4117		0.341	False		,,,				2504	0.5409				p.N19K		Atlas-SNP	.											.	PAPOLB	93	.	0			c.T57G						PASS	.	C	,LYS/ASN	2462,1420		806,850,285	10	11	11		,57	3.2	0.2	7	dbSNP_107	11	3180,5066		607,1966,1550	yes	intron,missense	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,94	1413,2816,1835	CC,CA,AA		38.5642,36.5791,46.5204	,benign	,19/638	4901385	5642,6486	1941	4123	6064	SO:0001583	missense	56903	exon1			GTAGCGATTCGGC	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.54T>G	7.37:g.4901385A>C	ENSP00000384700:p.Asn18Lys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	47	15	0.319149	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		948	0.4340659340659341	356	0.7235772357723578	128	0.35359116022099446	208	0.36363636363636365	256	0.33773087071240104	C	0.005	-2.186441	0.00305	0.634209	0.385642	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.25	0.37280	.	.	.	.	.	T	0.00012	0.0000	N	0.00025	-2.685	0.47621	P	5.300000000000304E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42015	-0.9476	7	0.02654	T	1	.	3.8434	0.08925	0.1922:0.6117:0.0:0.1961	rs3750009;rs9655434;rs57255641;rs3750009	19	A4D1Z6	.	K	18	.	ENSP00000384700:N18K	N	-	3	2	PAPOLB	4867911	1.000000	0.71417	0.189000	0.23252	0.003000	0.03518	0.699000	0.25586	0.718000	0.32166	-0.121000	0.15023	AAT	A|0.534;C|0.466	0.466	strong		0.672	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		C	4901385	A	C	4901385	3	2	23	1	0	0	0	0	1	0	0	0	11430	330	12	5	1860	5	PAPOLB	7	4901385	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1044	4901385	154237278	1803	18259										
ZDHHC4	55146	hgsc.bcm.edu	37	chr7	6621277	6621277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaatgtcttcagagagccGtgcatggattgcttcattac	10	9	3	2	rs11559146	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:6621277G>A	ENST00000396706.2	+	4	600	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.V53M|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.V53M|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.V53M|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.V53M|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.V53M			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	53			V -> M (in dbSNP:rs11559146). {ECO:0000269|Ref.6}.			Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TCAGAGAGCCGTGCATGGATT	0.353													G|||	1633	0.326078	0.4418	0.3732	5008	,	,		20902	0.2351		0.2813	False		,,,				2504	0.2761				p.V53M		Atlas-SNP	.											.	ZDHHC4	36	.	0			c.G157A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1711,2695	515.0+/-368.8	328,1055,820	149	143	145		157,157,157,157	-8.1	0	7	dbSNP_120	145	2355,6245	394.1+/-344.6	327,1701,2272	yes	missense,missense,missense,missense	ZDHHC4	NM_001134387.1,NM_001134388.1,NM_001134389.1,NM_018106.3	21,21,21,21	655,2756,3092	AA,AG,GG		27.3837,38.8334,31.2625	benign,benign,benign,benign	53/345,53/345,53/345,53/345	6621277	4066,8940	2203	4300	6503	SO:0001583	missense	55146	exon4			AGAGCCGTGCATG	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.157G>A	7.37:g.6621277G>A	ENSP00000379934:p.Val53Met	Somatic	247	1	0.00404858		WXS	Illumina HiSeq	Phase_I	333	136	0.408408	NM_018106	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	CCDS5352.1	678	0.31043956043956045	216	0.43902439024390244	131	0.36187845303867405	112	0.1958041958041958	219	0.28891820580474936	g	6.178	0.400937	0.11696	0.388334	0.273837	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000483589;ENST00000396706	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.41;1.27	4.61	-8.12	0.01078	.	1.440670	0.03927	N	0.284580	T	0.00012	0.0000	N	0.00729	-1.24	0.80722	P	0.0	B;B	0.12013	0.003;0.005	B;B	0.08055	0.002;0.003	T	0.34502	-0.9826	9	0.30078	T	0.28	-34.9452	14.5694	0.68202	0.1382:0.1161:0.7457:0.0	rs11559146;rs28642371;rs59223464	53;53	Q9NPG8;C9J5I9	ZDHC4_HUMAN;.	M	53	ENSP00000385027:V53M;ENSP00000379941:V53M;ENSP00000379935:V53M;ENSP00000337475:V53M;ENSP00000379937:V53M;ENSP00000418496:V53M;ENSP00000379934:V53M	ENSP00000337475:V53M	V	+	1	0	ZDHHC4	6587802	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.776000	0.04674	-1.758000	0.01315	-1.155000	0.01812	GTG	G|0.691;A|0.309	0.309	strong		0.353	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		A	6621277	G	A	6621277	3	1	23	1	0	0	0	0	1	0	0	0	17614	1145	40	1	163	1	ZDHHC4	7	6621277	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1719892	6621277	152517386	1804	18260										
C7orf26	79034	hgsc.bcm.edu	37	chr7	6639953	6639953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcgcaggctctgcaggtGgccatggcctcaggagctct	15	13	3	0	rs34300529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:6639953G>A	ENST00000344417.5	+	4	1341	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V	C7orf26_ENST00000359073.5_Silent_p.V261V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	358										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTCTGCAGGTGGCCATGGCCT	0.662													G|||	380	0.0758786	0.0174	0.134	5008	,	,		13378	0.0278		0.1829	False		,,,				2504	0.0532				p.V358V		Atlas-SNP	.											C7orf26,NS,carcinoma,0,1	C7orf26	33	1	0			c.G1074A						PASS	.	G		177,4229	109.1+/-147.4	6,165,2032	28	28	28		1074	4.3	1	7	dbSNP_126	28	1502,7098	266.9+/-287.0	144,1214,2942	no	coding-synonymous	C7orf26	NM_024067.2		150,1379,4974	AA,AG,GG		17.4651,4.0172,12.9094		358/450	6639953	1679,11327	2203	4300	6503	SO:0001819	synonymous_variant	79034	exon4			GCAGGTGGCCATG	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.1074G>A	7.37:g.6639953G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_024067	Q9BQ43	Silent	SNP	ENST00000344417.5	37	CCDS5353.1	219	0.10027472527472528	12	0.024390243902439025	53	0.1464088397790055	9	0.015734265734265736	145	0.19129287598944592	G	9.926	1.213517	0.22289	0.040172	0.174651	ENSG00000146576	ENST00000445375	.	.	.	5.2	4.32	0.51571	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.13229	-1.0517	3	.	.	.	-33.9265	7.4662	0.27322	0.0865:0.0:0.7487:0.1647	rs34300529	.	.	.	S	96	.	.	G	+	1	0	C7orf26	6606478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.646000	0.46630	1.515000	0.48885	0.555000	0.69702	GGC	G|0.883;A|0.117	0.117	strong		0.662	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		A	6639953	G	A	6639953	2	1	23	1	0	0	0	0	0	0	0	1	2381	1335	47	2		2	C7orf26	7	6639953	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18676	6639953	152498710	1805	18261										
THSD7A	221981	hgsc.bcm.edu	37	chr7	11521428	11521428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactcaccttcttcacccgcAtaggccagaatggatcgtgc	9	14	3	1	rs61996277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:11521428A>G	ENST00000423059.4	-	7	2255	c.2004T>C	c.(2002-2004)taT>taC	p.Y668Y	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	668	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTCACCCGCATAGGCCAGAA	0.493										HNSCC(18;0.044)			A|||	168	0.0335463	0.0068	0.0865	5008	,	,		18995	0.002		0.0636	False		,,,				2504	0.0337				p.Y668Y		Atlas-SNP	.											.	THSD7A	219	.	0			c.T2004C						PASS	.	A		78,4216		1,76,2070	122	118	119		2004	0.9	1	7	dbSNP_129	119	741,7753		34,673,3540	no	coding-synonymous	THSD7A	NM_015204.2		35,749,5610	GG,GA,AA		8.7238,1.8165,6.4044		668/1658	11521428	819,11969	2147	4247	6394	SO:0001819	synonymous_variant	221981	exon7			ACCCGCATAGGCC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2004T>C	7.37:g.11521428A>G		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	336	121	0.360119	NM_015204		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																			A|0.946;G|0.054	0.054	strong		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		G	11521428	A	G	11521428	2	3	23	1	0	0	0	0	0	0	0	1	15876	224	8	2		2	THSD7A	7	11521428	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4881475	11521428	147617235	1806	18262										
TSPAN13	27075	hgsc.bcm.edu	37	chr7	16816000	16816000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcatcaggtgttgctattTtttgtatcctttttaaaaat	5	6	2	0	rs2290837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:16816000T>C	ENST00000262067.4	+	2	661	c.228T>C	c.(226-228)ttT>ttC	p.F76F	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	76						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TGTTGCTATTTTTTGTATCCT	0.363													T|||	1694	0.338259	0.4766	0.3487	5008	,	,		18343	0.2024		0.3926	False		,,,				2504	0.228				p.F76F		Atlas-SNP	.											.	TSPAN13	13	.	0			c.T228C						PASS	.	T		2009,2397	555.4+/-379.2	450,1109,644	166	150	155		228	2.5	1	7	dbSNP_100	155	3279,5321	482.4+/-370.9	629,2021,1650	no	coding-synonymous	TSPAN13	NM_014399.3		1079,3130,2294	CC,CT,TT		38.1279,45.5969,40.6582		76/205	16816000	5288,7718	2203	4300	6503	SO:0001819	synonymous_variant	27075	exon2			GCTATTTTTTGTA	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.228T>C	7.37:g.16816000T>C		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	266	166	0.62406	NM_014399		Silent	SNP	ENST00000262067.4	37	CCDS5363.1																																																																																			T|0.608;C|0.392	0.392	strong		0.363	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		C	16816000	T	C	16816000	2	2	23	1	0	0	0	0	0	0	0	1	16634	1838	64	2		2	TSPAN13	7	16816000	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5294572	16816000	142322663	1807	18263										
TSPAN13	27075	hgsc.bcm.edu	37	chr7	16823095	16823095	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccagaaagacccccgcgcGaatcctagtgcattcctttg	8	14	0	2	rs11491	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:16823095G>A	ENST00000262067.4	+	6	1027	c.594G>A	c.(592-594)gcG>gcA	p.A198A		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	198						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A198A(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		ACCCCCGCGCGAATCCTAGTG	0.388													G|||	2106	0.420527	0.3056	0.5245	5008	,	,		15724	0.2996		0.5497	False		,,,				2504	0.4939				p.A198A		Atlas-SNP	.											TSPAN13,NS,carcinoma,0,1	TSPAN13	13	1	1	Substitution - coding silent(1)	stomach(1)	c.G594A						PASS	.	G		1390,3016	459.2+/-352.2	238,914,1051	141	146	144		594	-1.4	1	7	dbSNP_52	144	4772,3828	611.0+/-395.8	1339,2094,867	no	coding-synonymous	TSPAN13	NM_014399.3		1577,3008,1918	AA,AG,GG		44.5116,31.5479,47.3781		198/205	16823095	6162,6844	2203	4300	6503	SO:0001819	synonymous_variant	27075	exon6			CCGCGCGAATCCT	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.594G>A	7.37:g.16823095G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	96	51	0.53125	NM_014399		Silent	SNP	ENST00000262067.4	37	CCDS5363.1																																																																																			T|0.000;G|0.537;C|0.000;A|0.463	0.463	strong		0.388	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		A	16823095	G	A	16823095	2	1	23	1	0	0	0	0	0	0	0	1	16634	1045	37	1		1	TSPAN13	7	16823095	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7095	16823095	142315568	1808	18264										
AGR2	10551	hgsc.bcm.edu	37	chr7	16834597	16834597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttcgtaagcatagagacgAtttgaatatcttccagtgat	10	6	1	3	rs6842	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:16834597A>G	ENST00000419304.2	-	7	593	c.441T>C	c.(439-441)aaT>aaC	p.N147N	AGR2_ENST00000419572.2_Silent_p.N167N|AGR2_ENST00000401412.1_Silent_p.N147N	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	147					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CATAGAGACGATTTGAATATC	0.418													A|||	1680	0.335463	0.1051	0.4957	5008	,	,		22739	0.2976		0.4672	False		,,,				2504	0.4366				p.N147N		Atlas-SNP	.											.	AGR2	14	.	0			c.T441C						PASS	.	A		733,3673	303.0+/-287.7	62,609,1532	150	120	130		441	-7.1	0.9	7	dbSNP_52	130	4273,4327	574.8+/-390.1	1044,2185,1071	no	coding-synonymous	AGR2	NM_006408.3		1106,2794,2603	GG,GA,AA		49.686,16.6364,38.4899		147/176	16834597	5006,8000	2203	4300	6503	SO:0001819	synonymous_variant	10551	exon7			GAGACGATTTGAA	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.441T>C	7.37:g.16834597A>G		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	231	229	0.991342	NM_006408		Silent	SNP	ENST00000419304.2	37	CCDS5364.1																																																																																			T|0.132;G|0.313;C|0.057;A|0.498	0.313	strong		0.418	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		G	16834597	A	G	16834597	2	3	23	1	0	0	0	0	0	0	0	1	395	330	12	2		2	AGR2	7	16834597	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11502	16834597	142304066	1809	18265										
SNX13	23161	hgsc.bcm.edu	37	chr7	17854532	17854532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacacatagtgagctaaagcGggggatgccttcatcatttc	10	9	2	1	rs2723501	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:17854532G>T	ENST00000409389.1	-	20	2194	c.2022C>A	c.(2020-2022)ccC>ccA	p.P674P	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.P663P			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	674	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GAGCTAAAGCGGGGGATGCCT	0.383													T|||	3494	0.697684	0.8661	0.5807	5008	,	,		12907	0.7192		0.5239	False		,,,				2504	0.7096				p.P663P		Atlas-SNP	.											.	SNX13	113	.	0			c.C1989A						PASS	.	T		2905,807		1147,611,98	82	73	76		1989	-4.5	1	7	dbSNP_100	76	4355,3819		1168,2019,900	no	coding-synonymous	SNX13	NM_015132.4		2315,2630,998	TT,TG,GG		46.7213,21.7403,38.9197		663/958	17854532	7260,4626	1856	4087	5943	SO:0001819	synonymous_variant	23161	exon20			TAAAGCGGGGGAT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2022C>A	7.37:g.17854532G>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	67	66	0.985075	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37																																																																																				G|0.331;T|0.669	0.669	strong		0.383	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		T	17854532	G	T	17854532	2	4	23	1	0	0	0	0	0	0	0	1	14884	1103	39	4		4	SNX13	7	17854532	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1019935	17854532	141284131	1810	18266										
HDAC9	9734	hgsc.bcm.edu	37	chr7	18687542	18687542	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttactttagagggaaagccAcccaacagcagccaccaggc	10	13	0	1	rs35614472	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:18687542A>T	ENST00000432645.2	+	9	1161	c.1161A>T	c.(1159-1161)ccA>ccT	p.P387P	HDAC9_ENST00000401921.1_Silent_p.P346P|HDAC9_ENST00000406451.4_Silent_p.P387P|HDAC9_ENST00000524023.1_Silent_p.P310P|HDAC9_ENST00000428307.2_Silent_p.P343P|HDAC9_ENST00000417496.2_Silent_p.P385P|HDAC9_ENST00000406072.1_Silent_p.P374P|HDAC9_ENST00000441542.2_Silent_p.P390P|HDAC9_ENST00000456174.2_Silent_p.P359P|HDAC9_ENST00000405010.3_Silent_p.P387P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	387					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGGAAAGCCACCCAACAGCA	0.502													A|||	19	0.00379393	0.0015	0.0043	5008	,	,		17684	0.0		0.0139	False		,,,				2504	0.0				p.P390P		Atlas-SNP	.											.	HDAC9	560	.	0			c.A1170T						PASS	.	A	,,,,,,,,	7,4069		0,7,2031	39	40	39		1155,1029,1038,930,1077,1161,1161,1161,1170	-5	0.7	7	dbSNP_126	39	115,8287		0,115,4086	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	,,,,,,,,	0,122,6117	TT,TA,AA		1.3687,0.1717,0.9777	,,,,,,,,	385/589,343/547,346/550,310/514,359/563,387/591,387/1012,387/1067,390/1070	18687542	122,12356	2038	4201	6239	SO:0001819	synonymous_variant	9734	exon9			AAAGCCACCCAAC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1161A>T	7.37:g.18687542A>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	88	34	0.386364	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																			A|0.992;T|0.008	0.008	strong		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18687542	A	T	18687542	2	4	23	1	0	0	0	0	0	0	0	1	7014	146	6	5		5	HDAC9	7	18687542	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	833010	18687542	140451121	1811	18267										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20666195	20666195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagaactgcagaagaacaGccaaaactgagaaaggaagc	10	9	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:20666195G>A	ENST00000404938.2	+	3	721	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	23					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q23H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGAAGAACAGCCAAAACTGA	0.333																																					p.Q23Q		Atlas-SNP	.											ABCB5_ENST00000404938,NS,carcinoma,0,1	ABCB5	357	1	1	Substitution - Missense(1)	lung(1)	c.G69A						scavenged	.						77	67	70					7																	20666195		1568	3581	5149	SO:0001819	synonymous_variant	340273	exon3			AGAACAGCCAAAA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.69G>A	7.37:g.20666195G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	146	4	0.0273973	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																			.	.	none		0.333	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20666195	G	A	20666195	2	1	23	1	0	0	0	0	0	0	0	1	44	962	34	2		2	ABCB5	7	20666195	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1978653	20666195	138472468	1812	18268										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20698270	20698270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccctggattcagaaagcAagtcagctgttcaagctgca	10	11	3	1	rs2301641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:20698270A>G	ENST00000404938.2	+	14	2330	c.1678A>G	c.(1678-1680)Aag>Gag	p.K560E	ABCB5_ENST00000258738.6_Missense_Mutation_p.K115E|ABCB5_ENST00000443026.2_Missense_Mutation_p.K115E|ABCB5_ENST00000406935.1_Missense_Mutation_p.K115E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		K -> E (in dbSNP:rs2301641). {ECO:0000269|PubMed:15760339}.		antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGAAAGCAAGTCAGCTGT	0.433													G|||	1822	0.363818	0.584	0.3127	5008	,	,		19820	0.2024		0.328	False		,,,				2504	0.3057				p.K560E		Atlas-SNP	.											.	ABCB5	357	.	0			c.A1678G						PASS	.	G	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	2460,1946	552.4+/-378.5	699,1062,442	98	86	90		1678,343,343,343	4.7	0.6	7	dbSNP_100	90	2742,5858	680.3+/-403.6	438,1866,1996	yes	missense,missense,missense,missense	ABCB5	NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5	56,56,56,56	1137,2928,2438	GG,GA,AA		31.8837,44.167,39.9969	benign,benign,benign,benign	560/1258,115/132,115/127,115/813	20698270	5202,7804	2203	4300	6503	SO:0001583	missense	340273	exon14			GAAAGCAAGTCAG	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1678A>G	7.37:g.20698270A>G	ENSP00000384881:p.Lys560Glu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	130	50	0.384615	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	739	0.3383699633699634	256	0.5203252032520326	114	0.3149171270718232	117	0.20454545454545456	252	0.3324538258575198	G	1.621	-0.521441	0.04171	0.55833	0.318837	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	T;D;D;T	0.86956	-0.33;-2.19;-2.19;-0.33	5.58	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	N	0.000011	T	0.00012	0.0000	N	0.00028	-2.635	0.43994	P	0.003306999999999949	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	0.42799	-0.9430	9	0.02654	T	1	.	12.5024	0.55962	0.143:0.0:0.857:0.0	rs2301641;rs52809626;rs61332247;rs2301641	115;560;115;115	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	E	560;115;115;115	ENSP00000384881:K560E;ENSP00000406730:K115E;ENSP00000383899:K115E;ENSP00000258738:K115E	ENSP00000258738:K115E	K	+	1	0	ABCB5	20664795	1.000000	0.71417	0.610000	0.28997	0.006000	0.05464	6.508000	0.73721	1.511000	0.48818	-0.128000	0.14901	AAG	A|0.625;G|0.375	0.375	strong		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20698270	A	G	20698270	3	3	23	1	0	0	0	0	1	0	0	0	44	131	5	2	1728	2	ABCB5	7	20698270	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	32075	20698270	138440393	1813	18269										
FAM126A	84668	hgsc.bcm.edu	37	chr7	23015831	23015831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttgaattttactttacctTgaacaaatttgacacagtga	5	7	0	4	rs3735231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:23015831T>C	ENST00000432176.2	-	7	856	c.624A>G	c.(622-624)tcA>tcG	p.S208S	FAM126A_ENST00000409923.1_Silent_p.S208S	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	208					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TACTTTACCTTGAACAAATTT	0.318													T|||	1877	0.3748	0.3578	0.33	5008	,	,		18391	0.4663		0.3628	False		,,,				2504	0.3476				p.S208S		Atlas-SNP	.											FAM126A,NS,carcinoma,-1,1	FAM126A	53	1	0			c.A624G						PASS	.	T		1514,2892	479.2+/-358.4	276,962,965	86	84	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	624	5.5	1	7	dbSNP_107	85	2966,5632	460.2+/-365.1	518,1930,1851	no	coding-synonymous	FAM126A	NM_032581.3		794,2892,2816	CC,CT,TT		34.4964,34.3622,34.4509		208/522	23015831	4480,8524	2203	4299	6502	SO:0001819	synonymous_variant	84668	exon7			TTACCTTGAACAA	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.624A>G	7.37:g.23015831T>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	72	72	1	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	CCDS5377.1	823	0.3768315018315018	154	0.3130081300813008	130	0.35911602209944754	269	0.47027972027972026	270	0.3562005277044855	T	12.31	1.900832	0.33535	0.343622	0.344964	ENSG00000122591	ENST00000440481	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.43653	-0.9378	3	.	.	.	-16.156	15.587	0.76491	0.0:0.0:0.0:1.0	rs3735231;rs10368120;rs17147509;rs58350469;rs3735231	.	.	.	R	260	.	.	Q	-	2	0	FAM126A	22982356	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.643000	0.37217	2.092000	0.63282	0.374000	0.22700	CAA	T|0.643;C|0.357	0.357	strong		0.318	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		C	23015831	T	C	23015831	2	2	23	1	0	0	0	0	0	0	0	1	5429	1799	63	2		2	FAM126A	7	23015831	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2317561	23015831	136122832	1814	18270										
KLHL7	55975	hgsc.bcm.edu	37	chr7	23212627	23212627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgggctggtatttgtaaaAgacaagatatttgctgtggg	13	4	0	2	rs118185564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:23212627A>G	ENST00000339077.5	+	10	1683	c.1440A>G	c.(1438-1440)aaA>aaG	p.K480K	KLHL7_ENST00000322231.7_Silent_p.K458K|KLHL7_ENST00000545443.1_Silent_p.K458K|KLHL7_ENST00000409689.1_Silent_p.K432K|KLHL7_ENST00000539124.1_Silent_p.K404K|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000542558.1_Silent_p.K255K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	480					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATTTGTAAAAGACAAGATAT	0.368													A|||	17	0.00339457	0.0008	0.0	5008	,	,		17141	0.0		0.0139	False		,,,				2504	0.002				p.K480K		Atlas-SNP	.											.	KLHL7	102	.	0			c.A1440G						PASS	.	A	,	8,4398	14.3+/-33.2	0,8,2195	283	269	273		1440,1296	2.2	1	7	dbSNP_132	273	53,8547	33.8+/-87.4	0,53,4247	no	coding-synonymous,coding-synonymous	KLHL7	NM_001031710.2,NM_018846.4	,	0,61,6442	GG,GA,AA		0.6163,0.1816,0.469	,	480/587,432/539	23212627	61,12945	2203	4300	6503	SO:0001819	synonymous_variant	55975	exon10			TGTAAAAGACAAG		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1440A>G	7.37:g.23212627A>G		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	437	278	0.636156	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	CCDS34609.1																																																																																			A|0.994;G|0.006	0.006	strong		0.368	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		G	23212627	A	G	23212627	2	3	23	1	0	0	0	0	0	0	0	1	8394	69	3	3		3	KLHL7	7	23212627	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	196796	23212627	135926036	1815	18271										
GPNMB	10457	hgsc.bcm.edu	37	chr7	23313171	23313171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctttaaggatggcaaacagTgccctgatctccgttggctg	11	11	1	1	rs2268748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:23313171T>C	ENST00000381990.2	+	10	1658	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	GPNMB_ENST00000258733.4_Silent_p.S487S|GPNMB_ENST00000453162.2_Silent_p.S441S|GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Silent_p.S388S	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	499					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)			TGGCAAACAGTGCCCTGATCT	0.448													T|||	693	0.138379	0.0045	0.2291	5008	,	,		19558	0.3641		0.0417	False		,,,				2504	0.1217				p.S499S		Atlas-SNP	.											.	GPNMB	88	.	0			c.T1497C						PASS	.	T	,	54,4352	53.6+/-89.4	0,54,2149	220	168	185		1497,1461	-0.8	0	7	dbSNP_100	185	337,8263	116.6+/-176.3	8,321,3971	no	coding-synonymous,coding-synonymous	GPNMB	NM_001005340.1,NM_002510.2	,	8,375,6120	CC,CT,TT		3.9186,1.2256,3.0063	,	499/573,487/561	23313171	391,12615	2203	4300	6503	SO:0001819	synonymous_variant	10457	exon10			AAACAGTGCCCTG	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.1497T>C	7.37:g.23313171T>C		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	249	163	0.654619	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																			T|0.909;G|0.000	.	strong		0.448	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		C	23313171	T	C	23313171	2	2	23	1	0	0	0	0	0	0	0	1	6620	1693	59	2		2	GPNMB	7	23313171	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	100544	23313171	135825492	1816	18272										
STK31	56164	hgsc.bcm.edu	37	chr7	23811795	23811795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcttattgaatatttaaaTaagagtcccagtgtggatca	8	6	1	2	rs10263079	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:23811795T>G	ENST00000355870.3	+	15	1982	c.1863T>G	c.(1861-1863)aaT>aaG	p.N621K	STK31_ENST00000354639.3_Missense_Mutation_p.N598K|STK31_ENST00000428484.1_Missense_Mutation_p.N598K|STK31_ENST00000433467.2_Missense_Mutation_p.N621K|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	621			N -> K (in dbSNP:rs10263079). {ECO:0000269|PubMed:17344846}.	NKS -> KKI (in Ref. 1; AAK31978). {ECO:0000305}.		acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATATTTAAATAAGAGTCCCA	0.289													T|||	484	0.0966454	0.0454	0.1297	5008	,	,		16803	0.0575		0.2117	False		,,,				2504	0.0644				p.N621K		Atlas-SNP	.											.	STK31	175	.	0			c.T1863G						PASS	.	T	LYS/ASN,LYS/ASN,LYS/ASN	305,4097	154.4+/-187.8	14,277,1910	42	44	43		1794,1863,1794	1.5	1	7	dbSNP_119	43	1823,6755	318.2+/-313.6	179,1465,2645	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	94,94,94	193,1742,4555	GG,GT,TT		21.252,6.9287,16.3945	possibly-damaging,possibly-damaging,possibly-damaging	598/997,621/1020,598/997	23811795	2128,10852	2201	4289	6490	SO:0001583	missense	56164	exon15			TTTAAATAAGAGT	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1863T>G	7.37:g.23811795T>G	ENSP00000348132:p.Asn621Lys	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	201	109	0.542289	NM_031414	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	284	0.13003663003663005	28	0.056910569105691054	61	0.1685082872928177	31	0.05419580419580419	164	0.21635883905013192	T	17.51	3.408289	0.62399	0.069287	0.21252	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70045	-0.45;1.29;-0.44;-0.44	5.19	1.51	0.23008	.	0.121725	0.53938	D	0.000050	T	0.00073	0.0002	M	0.64997	1.995	0.29422	P	0.860491	P;P	0.52842	0.956;0.956	P;P	0.45071	0.468;0.468	T	0.03259	-1.1055	9	0.51188	T	0.08	-16.6838	8.6987	0.34312	0.0:0.2245:0.0:0.7755	rs10263079;rs10263079	621;621	B4DZ06;Q9BXU1	.;STK31_HUMAN	K	621;621;598;598	ENSP00000348132:N621K;ENSP00000411852:N621K;ENSP00000346660:N598K;ENSP00000406146:N598K	ENSP00000346660:N598K	N	+	3	2	STK31	23778320	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	1.330000	0.33781	0.024000	0.15214	-0.379000	0.06801	AAT	T|0.843;G|0.157	0.157	strong		0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23811795	T	G	23811795	3	3	23	1	0	0	0	0	1	0	0	0	15295	1403	49	5	1921	5	STK31	7	23811795	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	498624	23811795	135326868	1817	18273										
DFNA5	1687	hgsc.bcm.edu	37	chr7	24742436	24742436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtgcccagcagagctgcTgcgctatctggcatttctgc	11	13	2	1	rs17149912	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:24742436T>C	ENST00000342947.3	-	9	1625	c.1200A>G	c.(1198-1200)gcA>gcG	p.A400A	DFNA5_ENST00000409775.3_Silent_p.A400A|DFNA5_ENST00000419307.1_Silent_p.A236A|DFNA5_ENST00000409970.1_Silent_p.A236A|DFNA5_ENST00000545231.1_Silent_p.A236A	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	400					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.A400A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCAGAGCTGCTGCGCTATCTG	0.507													T|||	1011	0.201877	0.1384	0.2637	5008	,	,		20265	0.2798		0.1501	False		,,,				2504	0.2168				p.A400A	GBM(78;184 1250 20134 20900 23600)	Atlas-SNP	.											DFNA5,NS,carcinoma,-2,2	DFNA5	51	2	1	Substitution - coding silent(1)	stomach(1)	c.A1200G						PASS	.	T	,,	584,3822	255.8+/-260.9	44,496,1663	95	90	91		1200,708,1200	-5.8	0	7	dbSNP_123	91	1341,7259	255.7+/-280.4	107,1127,3066	no	coding-synonymous,coding-synonymous,coding-synonymous	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	,,	151,1623,4729	CC,CT,TT		15.593,13.2547,14.8009	,,	400/497,236/333,400/497	24742436	1925,11081	2203	4300	6503	SO:0001819	synonymous_variant	1687	exon9			AGCTGCTGCGCTA	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1200A>G	7.37:g.24742436T>C		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	98	72	0.734694	NM_001127453	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																			T|0.828;C|0.172	0.172	strong		0.507	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		C	24742436	T	C	24742436	2	2	23	1	0	0	0	0	0	0	0	1	4454	1567	55	3		3	DFNA5	7	24742436	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	930641	24742436	134396227	1818	18274										
DFNA5	1687	hgsc.bcm.edu	37	chr7	24789386	24789386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaattcctggttgctttgGcaaacattttgaaagctcca	8	8	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:24789386G>A	ENST00000342947.3	-	2	433	c.8C>T	c.(7-9)gCc>gTc	p.A3V	DFNA5_ENST00000409775.3_Missense_Mutation_p.A3V|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	3					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTTGGCAAACATTTT	0.333																																					p.A3V	GBM(78;184 1250 20134 20900 23600)	Atlas-SNP	.											.	DFNA5	51	.	0			c.C8T						PASS	.						79	85	83					7																	24789386		2203	4300	6503	SO:0001583	missense	1687	exon2			GCTTTGGCAAACA	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.8C>T	7.37:g.24789386G>A	ENSP00000339587:p.Ala3Val	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	114	29	0.254386	NM_001127453	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670665	0.88348	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.25414	1.8;1.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.57230	-0.7847	10	0.59425	D	0.04	-24.0835	16.4772	0.84135	0.0:0.1308:0.8692:0.0	.	3;3	A4FTY0;O60443	.;DFNA5_HUMAN	V	3	ENSP00000339587:A3V;ENSP00000386670:A3V	ENSP00000339587:A3V	A	-	2	0	DFNA5	24755911	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.414000	0.66405	2.606000	0.88127	0.655000	0.94253	GCC	.	.	none		0.333	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		A	24789386	G	A	24789386	3	1	23	1	0	0	0	0	1	0	0	0	4454	1203	42	2	1518	2	DFNA5	7	24789386	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46950	24789386	134349277	1819	18275										
HNRNPA2B1	3181	hgsc.bcm.edu	37	chr7	26236961	26236961	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctacagcacgttttggctCaactactctcccatcaattg	6	13	3	0	rs542884101		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:26236961C>T	ENST00000354667.4	-	4	442	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E80K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	92	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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 transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.E80Q(1)|p.E92Q(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGTTTTGGCTCAACTACTCTC	0.423			T	ETV1	prostate																																p.E92K		Atlas-SNP	.		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	HNRNPA2B1_ENST00000354667,NS,carcinoma,0,2	HNRNPA2B1	70	2	2	Substitution - Missense(2)	lung(2)	c.G274A						scavenged	.						217	190	199					7																	26236961		2203	4300	6503	SO:0001583	missense	3181	exon4			TTGGCTCAACTAC	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.274G>A	7.37:g.26236961C>T	ENSP00000346694:p.Glu92Lys	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	292	3	0.010274	NM_031243	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794710	0.90453	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.91894	-2.93;-2.93	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	D	0.94518	0.8235	M	0.70275	2.135	0.53688	D	0.999973	D;P	0.63046	0.992;0.86	P;P	0.52554	0.702;0.607	D	0.94378	0.7602	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	80;92	P22626-2;P22626	.;ROA2_HUMAN	K	92;80;80	ENSP00000346694:E92K;ENSP00000349101:E80K	ENSP00000346694:E92K	E	-	1	0	HNRNPA2B1	26203486	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.747000	0.85070	2.885000	0.99019	0.655000	0.94253	GAG	.	.	none		0.423	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		T	26236961	C	T	26236961	3	4	23	1	0	0	0	0	1	0	0	0	7259	835	29	2	819	2	HNRNPA2B1	7	26236961	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1447575	26236961	132901702	1820	18276										
HOXA1	3198	hgsc.bcm.edu	37	chr7	27135096	27135096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccccagcataaccctggtGgtggtggtgatgctggacca	14	12	0	1	rs45571645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:27135096G>T	ENST00000343060.4	-	1	497	c.436C>A	c.(436-438)Cac>Aac	p.H146N	HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	146	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAACCCTGGTGGTGGTGGTGA	0.557													G|||	27	0.00539137	0.0	0.0058	5008	,	,		15833	0.0		0.0179	False		,,,				2504	0.0051				p.H146N		Atlas-SNP	.											.	HOXA1	64	.	0			c.C436A						PASS	.	G	ASN/HIS,	18,4388	27.2+/-55.0	0,18,2185	65	67	67		436,	5	1	7	dbSNP_127	67	166,8434	78.4+/-141.0	0,166,4134	yes	missense,intron	HOXA1	NM_005522.4,NM_153620.2	68,	0,184,6319	TT,TG,GG		1.9302,0.4085,1.4147	possibly-damaging,	146/336,	27135096	184,12822	2203	4300	6503	SO:0001583	missense	3198	exon1			CCTGGTGGTGGTG		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.436C>A	7.37:g.27135096G>T	ENSP00000343246:p.His146Asn	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	122	48	0.393443	NM_005522	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	16	0.007326007326007326	0	0.0	2	0.0055248618784530384	0	0.0	14	0.018469656992084433	G	14.49	2.552098	0.45487	0.004085	0.019302	ENSG00000105991	ENST00000343060	T	0.28454	1.61	5.01	5.01	0.66863	.	0.069967	0.64402	D	0.000017	T	0.17152	0.0412	M	0.62723	1.935	0.80722	D	1	B	0.34061	0.436	B	0.30179	0.112	T	0.03121	-1.1070	10	0.29301	T	0.29	.	15.8497	0.78921	0.0:0.0:1.0:0.0	rs45571645;rs61733418	146	P49639	HXA1_HUMAN	N	146	ENSP00000343246:H146N	ENSP00000343246:H146N	H	-	1	0	HOXA1	27101621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.375000	0.52410	2.612000	0.88384	0.561000	0.74099	CAC	G|0.988;T|0.012	0.012	strong		0.557	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			T	27135096	G	T	27135096	3	4	23	1	0	0	0	0	1	0	0	0	7288	1348	47	4	579	4	HOXA1	7	27135096	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	898135	27135096	132003567	1821	18277										
HOXA7	3204	hgsc.bcm.edu	37	chr7	27196116	27196116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttggaacagagaagcccCcgccgtatatttgctaaaaa	8	9	0	1	rs78410337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:27196116C>T	ENST00000242159.3	-	1	182	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	17					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AGAGAAGCCCCCGCCGTATAT	0.532													C|||	13	0.00259585	0.0	0.0029	5008	,	,		12045	0.0		0.0109	False		,,,				2504	0.0				p.G17R		Atlas-SNP	.											.	HOXA7	34	.	0			c.G49A						PASS	.	C	ARG/GLY	18,4380		0,18,2181	64	81	75		49	5.2	1	7	dbSNP_131	75	98,8490		0,98,4196	yes	missense	HOXA7	NM_006896.3	125	0,116,6377	TT,TC,CC		1.1411,0.4093,0.8933	probably-damaging	17/231	27196116	116,12870	2199	4294	6493	SO:0001583	missense	3204	exon1			AAGCCCCCGCCGT		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.49G>A	7.37:g.27196116C>T	ENSP00000242159:p.Gly17Arg	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	164	47	0.286585	NM_006896	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	CCDS5408.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	32	5.110578	0.94292	0.004093	0.011411	ENSG00000122592	ENST00000242159;ENST00000519842	T;D	0.82081	1.53;-1.57	5.21	5.21	0.72293	.	0.121540	0.52532	D	0.000067	T	0.79834	0.4514	M	0.84948	2.725	0.80722	D	1	P	0.40144	0.704	B	0.31390	0.129	D	0.86042	0.1520	10	0.87932	D	0	.	18.7386	0.91765	0.0:1.0:0.0:0.0	.	17	P31268	HXA7_HUMAN	R	17	ENSP00000242159:G17R;ENSP00000428563:G17R	ENSP00000242159:G17R	G	-	1	0	HOXA7	27162641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.510000	0.81708	2.599000	0.87857	0.561000	0.74099	GGG	C|0.993;T|0.007	0.007	strong		0.532	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			T	27196116	C	T	27196116	3	4	23	1	0	0	0	0	1	0	0	0	7297	623	22	2	651	2	HOXA7	7	27196116	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	61020	27196116	131942547	1822	18278										
CPVL	54504	hgsc.bcm.edu	37	chr7	29152371	29152371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttgtaagtcttattcacGgtgaggaagccggcataact	11	8	2	1	rs323182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:29152371G>A	ENST00000409850.1	-	7	883	c.237C>T	c.(235-237)acC>acT	p.T79T	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.T79T|CPVL_ENST00000265394.5_Silent_p.T79T			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	79						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTTATTCACGGTGAGGAAGC	0.478													G|||	400	0.0798722	0.1513	0.0778	5008	,	,		15771	0.0337		0.0984	False		,,,				2504	0.0133				p.T79T		Atlas-SNP	.											.	CPVL	60	.	0			c.C237T						PASS	.	G	,	612,3794	267.4+/-267.8	48,516,1639	108	98	101		237,237	-11.7	0.4	7	dbSNP_79	101	1011,7589	216.3+/-255.4	63,885,3352	no	coding-synonymous,coding-synonymous	CPVL	NM_019029.2,NM_031311.3	,	111,1401,4991	AA,AG,GG		11.7558,13.8901,12.4789	,	79/477,79/477	29152371	1623,11383	2203	4300	6503	SO:0001819	synonymous_variant	54504	exon3			ATTCACGGTGAGG	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.237C>T	7.37:g.29152371G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	207	72	0.347826	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	CCDS5419.1																																																																																			G|0.887;A|0.113	0.113	strong		0.478	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		A	29152371	G	A	29152371	2	1	23	1	0	0	0	0	0	0	0	1	3835	1103	39	1		1	CPVL	7	29152371	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1956255	29152371	129986292	1823	18279										
CPVL	54504	hgsc.bcm.edu	37	chr7	29152416	29152416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgttcagtcctgggaaaggGccgaccaaactcaattctct	9	11	3	0	rs2011337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:29152416G>A	ENST00000409850.1	-	7	838	c.192C>T	c.(190-192)ggC>ggT	p.G64G	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.G64G|CPVL_ENST00000265394.5_Silent_p.G64G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	64						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGGGAAAGGGCCGACCAAAC	0.438													A|||	492	0.0982428	0.2171	0.085	5008	,	,		16606	0.0337		0.0984	False		,,,				2504	0.0133				p.G64G		Atlas-SNP	.											.	CPVL	60	.	0			c.C192T						PASS	.	A	,	851,3555	745.5+/-411.7	80,691,1432	80	76	77		192,192	0.9	0	7	dbSNP_92	77	1017,7583	772.7+/-407.7	65,887,3348	no	coding-synonymous,coding-synonymous	CPVL	NM_019029.2,NM_031311.3	,	145,1578,4780	AA,AG,GG		11.8256,19.3146,14.3626	,	64/477,64/477	29152416	1868,11138	2203	4300	6503	SO:0001819	synonymous_variant	54504	exon3			GAAAGGGCCGACC	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.192C>T	7.37:g.29152416G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	173	64	0.369942	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	CCDS5419.1																																																																																			G|0.869;A|0.131	0.131	strong		0.438	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		A	29152416	G	A	29152416	2	1	23	1	0	0	0	0	0	0	0	1	3835	1190	42	2		2	CPVL	7	29152416	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	45	29152416	129986247	1824	18280										
CHN2	1124	hgsc.bcm.edu	37	chr7	29519929	29519929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgaagggctgccctcacacAcaacgacaaccacttcaatt	6	15	2	0	rs3750103	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:29519929A>G	ENST00000222792.6	+	7	1141	c.611A>G	c.(610-612)cAc>cGc	p.H204R	CHN2_ENST00000546235.1_Missense_Mutation_p.H189R|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.H68R|CHN2_ENST00000421775.2_Missense_Mutation_p.H68R|CHN2_ENST00000539389.1_Missense_Mutation_p.H60R|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.H217R|CHN2_ENST00000539406.1_Missense_Mutation_p.H279R|CHN2_ENST00000409041.4_Missense_Mutation_p.H68R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	204			H -> R (in dbSNP:rs3750103). {ECO:0000269|PubMed:14702039}.		positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCCCTCACACACAACGACAAC	0.502													A|||	637	0.127196	0.1445	0.1225	5008	,	,		18677	0.2192		0.0517	False		,,,				2504	0.09				p.H204R	Ovarian(1;44 48 13232 18918 31480)	Atlas-SNP	.											.	CHN2	98	.	0			c.A611G						PASS	.	A	ARG/HIS,ARG/HIS	642,3764	277.2+/-273.6	45,552,1606	230	173	192		203,611	4.4	1	7	dbSNP_107	192	424,8176	131.0+/-188.9	16,392,3892	yes	missense,missense	CHN2	NM_001039936.1,NM_004067.2	29,29	61,944,5498	GG,GA,AA		4.9302,14.571,8.1962	benign,benign	68/333,204/469	29519929	1066,11940	2203	4300	6503	SO:0001583	missense	1124	exon7			TCACACACAACGA	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.611A>G	7.37:g.29519929A>G	ENSP00000222792:p.His204Arg	Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	375	136	0.362667	NM_004067	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	242	0.1108058608058608	59	0.11991869918699187	40	0.11049723756906077	105	0.18356643356643357	38	0.05013192612137203	A	12.70	2.015624	0.35511	0.14571	0.049302	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000439711;ENST00000421775	D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.55	4.38	0.52667	.	0.249845	0.47852	D	0.000217	T	0.00300	0.0009	N	0.19112	0.55	0.26411	P	0.9762527	B;B;B;B;B;B;B;B;B;B;B;B	0.30439	0.0;0.013;0.279;0.001;0.019;0.0;0.009;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B	0.25140	0.001;0.006;0.058;0.0;0.017;0.0;0.021;0.0;0.002;0.004;0.003;0.004	T	0.10894	-1.0610	9	0.19147	T	0.46	.	12.2032	0.54337	0.8248:0.1752:0.0:0.0	rs3750103;rs52805840;rs57756092;rs3750103	189;217;279;68;68;68;68;68;60;204;68;204	B7Z1W9;B7Z1V0;F5H003;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCF6;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	279;204;217;60;189;68;68;68	ENSP00000444063:H279R;ENSP00000222792:H204R;ENSP00000438587:H217R;ENSP00000440526:H60R;ENSP00000442812:H189R;ENSP00000386849:H68R;ENSP00000387425:H68R;ENSP00000394284:H68R	ENSP00000222792:H204R	H	+	2	0	CHN2	29486454	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.889000	0.75627	0.980000	0.38523	0.533000	0.62120	CAC	A|0.901;G|0.099	0.099	strong		0.502	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		G	29519929	A	G	29519929	3	3	23	1	0	0	0	0	1	0	0	0	3363	159	6	2	805	2	CHN2	7	29519929	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	367513	29519929	129618734	1825	18281										
WIPF3	644150	hgsc.bcm.edu	37	chr7	29924072	29924072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagttaatagcagcagtgAaactccacccccgctacccc	8	15	0	1	rs3750092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:29924072A>G	ENST00000409290.1	+	4	962	c.962A>G	c.(961-963)gAa>gGa	p.E321G	WIPF3_ENST00000409123.1_Missense_Mutation_p.E321G|WIPF3_ENST00000242140.5_Missense_Mutation_p.E321G	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	321			E -> G (in dbSNP:rs3750092).		cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGCAGCAGTGAAACTCCACCC	0.706													A|||	418	0.0834665	0.003	0.0303	5008	,	,		7900	0.3095		0.0477	False		,,,				2504	0.0337				p.E321G		Atlas-SNP	.											WIPF3,NS,carcinoma,0,1	WIPF3	46	1	0			c.A962G						PASS	.	A	GLY/GLU	31,3497		0,31,1733	6	6	6		962	2.8	0	7	dbSNP_107	6	252,7690		2,248,3721	yes	missense	WIPF3	NM_001080529.2	98	2,279,5454	GG,GA,AA		3.173,0.8787,2.4673	benign	321/484	29924072	283,11187	1764	3971	5735	SO:0001583	missense	644150	exon5			GCAGTGAAACTCC	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.962A>G	7.37:g.29924072A>G	ENSP00000386878:p.Glu321Gly	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	256	90	0.351562	NM_001080529	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	161	0.07371794871794872	2	0.0040650406504065045	7	0.019337016574585635	116	0.20279720279720279	36	0.047493403693931395	A	9.085	1.000328	0.19121	0.008787	0.03173	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.46451	0.87;0.87;0.87	4.02	2.85	0.33270	.	0.272273	0.25753	N	0.028536	T	0.00039	0.0001	L	0.54323	1.7	0.80722	P	0.0	B	0.18013	0.025	B	0.12837	0.008	T	0.07121	-1.0789	9	0.28530	T	0.3	.	5.5458	0.17063	0.8728:0.0:0.1272:0.0	rs3750092;rs52794636;rs3750092	321	A6NGB9	WIPF3_HUMAN	G	321	ENSP00000386790:E321G;ENSP00000386878:E321G;ENSP00000242140:E321G	ENSP00000242140:E321G	E	+	2	0	WIPF3	29890597	0.954000	0.32549	0.020000	0.16555	0.014000	0.08584	3.440000	0.52886	1.591000	0.50007	0.448000	0.29417	GAA	A|0.914;G|0.086	0.086	strong		0.706	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			G	29924072	A	G	29924072	3	3	23	1	0	0	0	0	1	0	0	0	17366	246	9	2	976	2	WIPF3	7	29924072	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	404143	29924072	129214591	1826	18282										
WIPF3	644150	hgsc.bcm.edu	37	chr7	29927688	29927688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcttctctgtaaggggcCggtgggggaaagctaaatcc	13	9	3	0	rs61750796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:29927688C>T	ENST00000409290.1	+	5	1104	c.1104C>T	c.(1102-1104)gcC>gcT	p.A368A	WIPF3_ENST00000409123.1_Silent_p.A368A|WIPF3_ENST00000242140.5_Silent_p.A368A	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	368					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTAAGGGGCCGGTGGGGGAA	0.522													C|||	115	0.0229633	0.0129	0.0058	5008	,	,		19217	0.0476		0.0179	False		,,,				2504	0.0286				p.A368A		Atlas-SNP	.											.	WIPF3	46	.	0			c.C1104T						PASS	.	C		59,3823		0,59,1882	38	39	39		1104	3	0.9	7	dbSNP_129	39	111,8159		1,109,4025	no	coding-synonymous	WIPF3	NM_001080529.2		1,168,5907	TT,TC,CC		1.3422,1.5198,1.3989		368/484	29927688	170,11982	1941	4135	6076	SO:0001819	synonymous_variant	644150	exon6			AGGGGCCGGTGGG	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1104C>T	7.37:g.29927688C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	79	16	0.202532	NM_001080529	B8ZZV2	Silent	SNP	ENST00000409290.1	37	CCDS56472.1																																																																																			C|0.979;T|0.021	0.021	strong		0.522	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			T	29927688	C	T	29927688	2	4	23	1	0	0	0	0	0	0	0	1	17366	639	23	1		1	WIPF3	7	29927688	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3616	29927688	129210975	1827	18283										
CRHR2	1395	hgsc.bcm.edu	37	chr7	30695202	30695202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcacaggccccacctggaaCgactgcaggaaggagttgaa	13	11	1	1	rs2240403	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:30695202C>T	ENST00000471646.1	-	10	1464	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	CRHR2_ENST00000506074.2_Silent_p.S349S|CRHR2_ENST00000341843.4_Silent_p.S335S|CRHR2_ENST00000348438.4_Silent_p.S376S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	349					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCACCTGGAACGACTGCAGGA	0.597													C|||	685	0.136781	0.1089	0.0951	5008	,	,		20091	0.1806		0.0706	False		,,,				2504	0.227				p.S376S		Atlas-SNP	.											.	CRHR2	104	.	0			c.G1128A						PASS	.	C	,,,,	463,3943	217.1+/-235.6	22,419,1762	78	76	77		1128,1005,1044,1047,1047	-10.2	0.4	7	dbSNP_98	77	767,7833	180.5+/-229.4	35,697,3568	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CRHR2	NM_001202475.1,NM_001202481.1,NM_001202482.1,NM_001202483.1,NM_001883.4	,,,,	57,1116,5330	TT,TC,CC		8.9186,10.5084,9.4572	,,,,	376/439,335/398,348/411,349/388,349/412	30695202	1230,11776	2203	4300	6503	SO:0001819	synonymous_variant	1395	exon11			CTGGAACGACTGC		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1047G>A	7.37:g.30695202C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	100	33	0.33	NM_001202475	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																			C|0.902;T|0.098	0.098	strong		0.597	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30695202	C	T	30695202	2	4	23	1	0	0	0	0	0	0	0	1	3872	523	19	1		1	CRHR2	7	30695202	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	767514	30695202	128443461	1828	18284										
INMT	11185	hgsc.bcm.edu	37	chr7	30791847	30791847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggctacttactacagcttCgatggcagcccctcacccga	8	15	1	0	rs2240822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:30791847C>T	ENST00000013222.5	+	1	97	c.81C>T	c.(79-81)ttC>ttT	p.F27F	INMT_ENST00000484180.1_Intron|INMT_ENST00000409539.1_Silent_p.F27F|INMT-FAM188B_ENST00000458257.1_Silent_p.F27F	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	27					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						ACTACAGCTTCGATGGCAGCC	0.572													C|||	151	0.0301518	0.0	0.0	5008	,	,		20032	0.1458		0.001	False		,,,				2504	0.0031				p.F27F		Atlas-SNP	.											.	INMT	38	.	0			c.C81T						PASS	.	C	,	0,4406		0,0,2203	119	113	115		81,81	-2.9	0	7	dbSNP_98	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	INMT	NM_001199219.1,NM_006774.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	27/263,27/264	30791847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11185	exon1			CAGCTTCGATGGC		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.81C>T	7.37:g.30791847C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	137	41	0.29927	NM_001199219	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																			C|0.981;T|0.019	0.019	strong		0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		T	30791847	C	T	30791847	2	4	23	1	0	0	0	0	0	0	0	1	7745	883	31	1		1	INMT	7	30791847	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	96645	30791847	128346816	1829	18285										
FAM188B	84182	hgsc.bcm.edu	37	chr7	30831181	30831181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggcagggcagccagcccgCacctgtcaggtgagtgtgct	15	13	1	1	rs12672119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:30831181C>T	ENST00000265299.6	+	5	1141	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	355			A -> V (in dbSNP:rs12672119).							endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGCCCGCACCTGTCAGG	0.542													T|||	402	0.0802716	0.031	0.0159	5008	,	,		17715	0.1687		0.0209	False		,,,				2504	0.1626				p.A355V		Atlas-SNP	.											.	FAM188B	62	.	0			c.C1064T						PASS	.	T	VAL/ALA	99,3895		2,95,1900	32	39	36		1064	-4.7	0	7	dbSNP_120	36	262,8094		1,260,3917	yes	missense	FAM188B	NM_032222.2	64	3,355,5817	TT,TC,CC		3.1355,2.4787,2.9231	benign	355/758	30831181	361,11989	1997	4178	6175	SO:0001583	missense	84182	exon5			AGCCCGCACCTGT	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1064C>T	7.37:g.30831181C>T	ENSP00000265299:p.Ala355Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	123	50	0.406504	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	154	0.07051282051282051	21	0.042682926829268296	8	0.022099447513812154	108	0.1888111888111888	17	0.022427440633245383	T	0.004	-2.287390	0.00248	0.024787	0.031355	ENSG00000106125	ENST00000265299	T	0.09723	2.95	4.4	-4.66	0.03329	.	1.564730	0.03238	N	0.179881	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43653	-0.9378	9	0.87932	D	0	-17.3691	6.9809	0.24702	0.1174:0.3346:0.0:0.5481	rs12672119;rs12672119	355	Q4G0A6	F188B_HUMAN	V	355	ENSP00000265299:A355V	ENSP00000265299:A355V	A	+	2	0	FAM188B	30797706	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.168000	0.02776	-2.780000	0.00118	GCA	C|0.935;T|0.065	0.065	strong		0.542	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		T	30831181	C	T	30831181	3	4	23	1	0	0	0	0	1	0	0	0	5515	710	25	2	1082	2	FAM188B	7	30831181	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39334	30831181	128307482	1830	18286										
FAM188B	84182	hgsc.bcm.edu	37	chr7	30868352	30868352	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctgggtgccctgcggctCggtaggtgcagcgggtgcct	19	11	0	0	rs201645679		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:30868352C>T	ENST00000265299.6	+	6	1208	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	377										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTGCGGCTCGGTAGGTGCA	0.582																																					p.L377L		Atlas-SNP	.											.	FAM188B	62	.	0			c.C1131T						PASS	.	C		0,4054		0,0,2027	115	119	118		1131	-6.6	0.3	7		118	1,8369		0,1,4184	yes	coding-synonymous-near-splice	FAM188B	NM_032222.2		0,1,6211	TT,TC,CC		0.0119,0.0,0.0080		377/758	30868352	1,12423	2027	4185	6212	SO:0001630	splice_region_variant	84182	exon6			GCGGCTCGGTAGG	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1132+1C>T	7.37:g.30868352C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_032222	Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	CCDS43565.1																																																																																			C|0.999;T|0.001	0.001	weak		0.582	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	Silent	T	30868352	C	T	30868352	5	4	23	1	0	0	0	0	0	0	1	0	5515	898	31	1	1153	1	FAM188B	7	30868352	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37171	30868352	128270311	1831	18287										
GHRHR	2692	hgsc.bcm.edu	37	chr7	31011677	31011677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggatgctgcccttttccaCagcgacgacactgaccactg	9	14	0	1	rs740336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:31011677C>T	ENST00000326139.2	+	6	610	c.564C>T	c.(562-564)caC>caT	p.H188H	GHRHR_ENST00000409316.1_Missense_Mutation_p.T6I|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.H124H	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	188					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCCTTTTCCACAGCGACGACA	0.587													C|||	299	0.0597045	0.1301	0.0231	5008	,	,		18976	0.005		0.0239	False		,,,				2504	0.0838				p.H188H		Atlas-SNP	.											.	GHRHR	55	.	0			c.C564T						PASS	.	C		487,3919	229.8+/-244.2	26,435,1742	109	80	90		564	-6.8	0	7	dbSNP_86	90	191,8409	85.0+/-147.5	1,189,4110	no	coding-synonymous	GHRHR	NM_000823.3		27,624,5852	TT,TC,CC		2.2209,11.0531,5.213		188/424	31011677	678,12328	2203	4300	6503	SO:0001819	synonymous_variant	2692	exon6			TTTCCACAGCGAC		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.564C>T	7.37:g.31011677C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	170	52	0.305882	NM_000823	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1	96	0.04395604395604396	65	0.13211382113821138	11	0.03038674033149171	1	0.0017482517482517483	19	0.025065963060686015	C	9.268	1.044992	0.19748	0.110531	0.022209	ENSG00000106128	ENST00000409316	.	.	.	4.57	-6.82	0.01698	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.50632	P	1.2000000000000899E-4	B	0.28933	0.228	B	0.20955	0.032	T	0.18650	-1.0330	6	0.87932	D	0	.	1.8357	0.03139	0.2142:0.1391:0.3996:0.2471	rs740336;rs9718454;rs56649853;rs740336	6	Q9HB43	.	I	6	.	ENSP00000386602:T6I	T	+	2	0	GHRHR	30978202	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-3.064000	0.00622	-1.131000	0.02910	0.561000	0.74099	ACA	C|0.943;T|0.057	0.057	strong		0.587	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31011677	C	T	31011677	2	4	23	1	0	0	0	0	0	0	0	1	6373	477	17	2		2	GHRHR	7	31011677	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	143325	31011677	128126986	1832	18288										
ADCYAP1R1	117	hgsc.bcm.edu	37	chr7	31104520	31104520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaagatccagagggccaAtgagctgatgggcttcaatg	15	7	1	5	rs144472289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:31104520A>G	ENST00000304166.4	+	3	414	c.125A>G	c.(124-126)aAt>aGt	p.N42S	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.N42S|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.N42S|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.N42S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	42					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGAGGGCCAATGAGCTGATG	0.557													A|||	10	0.00199681	0.0	0.0014	5008	,	,		21493	0.0		0.0089	False		,,,				2504	0.0				p.N42S	Ovarian(44;225 1186 2158 11092)	Atlas-SNP	.											.	ADCYAP1R1	78	.	0			c.A125G						PASS	.	A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	81	70	74		125,125,125,125	4.4	1	7	dbSNP_134	74	42,8556	27.4+/-76.7	0,42,4257	yes	missense,missense,missense,missense	ADCYAP1R1	NM_001118.4,NM_001199635.1,NM_001199636.1,NM_001199637.1	46,46,46,46	0,43,6459	GG,GA,AA		0.4885,0.0227,0.3307	benign,benign,benign,benign	42/469,42/497,42/496,42/448	31104520	43,12961	2203	4299	6502	SO:0001583	missense	117	exon3			GGGCCAATGAGCT		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.125A>G	7.37:g.31104520A>G	ENSP00000306620:p.Asn42Ser	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	139	69	0.496403	NM_001118	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	10	0.004578754578754579	0	0.0	1	0.0027624309392265192	0	0.0	9	0.011873350923482849	A	13.14	2.147275	0.37923	2.27E-4	0.004885	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000431811;ENST00000396211;ENST00000409489	T;T;T;T;T	0.52057	0.68;1.16;0.98;0.68;0.68	5.58	4.36	0.52297	GPCR, family 2, extracellular hormone receptor domain (1);	0.257434	0.36066	N	0.002816	T	0.21186	0.0510	N	0.22421	0.69	0.30532	N	0.767307	B;B;B;B;B	0.11235	0.004;0.002;0.004;0.001;0.004	B;B;B;B;B	0.15052	0.012;0.007;0.007;0.0;0.004	T	0.14952	-1.0454	10	0.09590	T	0.72	.	8.9845	0.35986	0.8131:0.1869:0.0:0.0	.	42;42;42;42;42	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	S	42	ENSP00000306620:N42S;ENSP00000387335:N42S;ENSP00000400893:N42S;ENSP00000379514:N42S;ENSP00000386395:N42S	ENSP00000306620:N42S	N	+	2	0	ADCYAP1R1	31071045	0.041000	0.20044	0.992000	0.48379	0.984000	0.73092	1.464000	0.35288	2.115000	0.64714	0.460000	0.39030	AAT	A|0.997;G|0.003	0.003	strong		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		G	31104520	A	G	31104520	3	3	23	1	0	0	0	0	1	0	0	0	303	101	4	2	131	2	ADCYAP1R1	7	31104520	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	92843	31104520	128034143	1833	18289										
CCDC129	223075	hgsc.bcm.edu	37	chr7	31682829	31682829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccttcatgttgactctgaGgccccacgagaagaggaaag	11	10	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:31682829G>C	ENST00000407970.3	+	11	1883	c.1845G>C	c.(1843-1845)gaG>gaC	p.E615D	CCDC129_ENST00000409210.1_Missense_Mutation_p.E523D|CCDC129_ENST00000451887.2_Missense_Mutation_p.E641D|CCDC129_ENST00000319386.3_Missense_Mutation_p.E467D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	615										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGACTCTGAGGCCCCACGAG	0.498																																					p.E641D		Atlas-SNP	.											.	CCDC129	127	.	0			c.G1923C						PASS	.						119	112	114					7																	31682829		2203	4300	6503	SO:0001583	missense	223075	exon11			CTCTGAGGCCCCA	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1845G>C	7.37:g.31682829G>C	ENSP00000384416:p.Glu615Asp	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	91	26	0.285714	NM_001257968	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847181	0.32606	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19394	2.15;2.42;2.41;2.16	6.02	1.06	0.20224	.	0.998383	0.08108	N	0.996656	T	0.18509	0.0444	L	0.55103	1.725	0.09310	N	1	B;B;B;B	0.24186	0.025;0.099;0.099;0.099	B;B;B;B	0.26202	0.022;0.067;0.067;0.067	T	0.38373	-0.9664	10	0.22706	T	0.39	-6.6287	3.9948	0.09553	0.2297:0.0:0.4889:0.2814	.	641;625;615;467	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	D	467;615;641;625;523	ENSP00000313062:E467D;ENSP00000384416:E615D;ENSP00000395835:E641D;ENSP00000387214:E523D	ENSP00000313062:E467D	E	+	3	2	CCDC129	31649354	0.017000	0.18338	0.000000	0.03702	0.307000	0.27823	0.200000	0.17257	-0.075000	0.12798	0.655000	0.94253	GAG	.	.	none		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		C	31682829	G	C	31682829	3	2	23	1	0	0	0	0	1	0	0	0	2764	991	35	4	1883	4	CCDC129	7	31682829	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	578309	31682829	127455834	1834	18290										
PDE1C	5137	hgsc.bcm.edu	37	chr7	31848706	31848706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttgtctgtcttatttttAccatctttgaagtcacctga	5	9	5	2	rs3213709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:31848706A>G	ENST00000396191.1	-	16	2285	c.1830T>C	c.(1828-1830)ggT>ggC	p.G610G	PDE1C_ENST00000396193.1_Silent_p.G670G|PDE1C_ENST00000396184.3_Silent_p.G610G|PDE1C_ENST00000321453.7_Silent_p.G610G|PDE1C_ENST00000396182.2_Silent_p.G610G|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	610					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.G610G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCTTATTTTTACCATCTTTGA	0.323													A|||	951	0.189896	0.2209	0.1542	5008	,	,		18715	0.124		0.2167	False		,,,				2504	0.2137				p.G670G		Atlas-SNP	.											PDE1C_ENST00000396193,NS,carcinoma,-2,8	PDE1C	465	8	2	Substitution - coding silent(2)	stomach(2)	c.T2010C						scavenged	.	A	,,,,	938,3466	352.6+/-311.8	93,752,1357	140	125	130		1830,1830,2010,1830,1830	1.6	1	7	dbSNP_106	130	1750,6848	317.4+/-313.2	164,1422,2713	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	,,,,	257,2174,4070	GG,GA,AA		20.3536,21.2988,20.6737	,,,,	610/635,610/710,670/770,610/710,610/635	31848706	2688,10314	2202	4299	6501	SO:0001819	synonymous_variant	5137	exon17			ATTTTTACCATCT	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1830T>C	7.37:g.31848706A>G		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	106	30	0.283019	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																			A|0.792;G|0.208	0.208	strong		0.323	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			G	31848706	A	G	31848706	2	3	23	1	0	0	0	0	0	0	0	1	11635	378	14	2		2	PDE1C	7	31848706	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	165877	31848706	127289957	1835	18291										
PDE1C	5137	hgsc.bcm.edu	37	chr7	31855569	31855569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttctcctgatgacttctcGgctttggagtttttcccacg	9	11	2	2	rs2302450	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:31855569G>A	ENST00000396191.1	-	15	2237	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	PDE1C_ENST00000396193.1_Silent_p.A654A|PDE1C_ENST00000396184.3_Silent_p.A594A|PDE1C_ENST00000321453.7_Silent_p.A594A|PDE1C_ENST00000396182.2_Silent_p.A594A|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	594					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A594A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ATGACTTCTCGGCTTTGGAGT	0.448													A|||	1175	0.234625	0.2451	0.2046	5008	,	,		22184	0.1667		0.2704	False		,,,				2504	0.2751				p.A654A		Atlas-SNP	.											PDE1C_ENST00000396191,NS,carcinoma,0,2	PDE1C	465	2	2	Substitution - coding silent(2)	stomach(2)	c.C1962T						PASS	.	A	,,,,	1024,3382	727.8+/-409.9	133,758,1312	230	222	225		1782,1782,1962,1782,1782	-8.8	0.4	7	dbSNP_100	225	2092,6508	717.1+/-406.1	254,1584,2462	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	,,,,	387,2342,3774	AA,AG,GG		24.3256,23.241,23.9582	,,,,	594/635,594/710,654/770,594/710,594/635	31855569	3116,9890	2203	4300	6503	SO:0001819	synonymous_variant	5137	exon16			CTTCTCGGCTTTG	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1782C>T	7.37:g.31855569G>A		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	372	106	0.284946	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																			G|0.761;A|0.239	0.239	strong		0.448	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31855569	G	A	31855569	2	1	23	1	0	0	0	0	0	0	0	1	11635	1103	39	1		1	PDE1C	7	31855569	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6863	31855569	127283094	1836	18292										
AVL9	23080	hgsc.bcm.edu	37	chr7	32598630	32598630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcttcaggaaagtaacccaTgtgcagatgattttgtttct	10	7	2	2	rs2290213	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:32598630T>A	ENST00000318709.4	+	10	990	c.769T>A	c.(769-771)Tgt>Agt	p.C257S	AVL9_ENST00000404479.1_Missense_Mutation_p.C257S|AVL9_ENST00000409301.1_Missense_Mutation_p.C257S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	257			C -> S (in dbSNP:rs2290213).		cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AAGTAACCCATGTGCAGATGA	0.443													T|||	780	0.155751	0.1793	0.1066	5008	,	,		18083	0.129		0.1243	False		,,,				2504	0.2188				p.C257S		Atlas-SNP	.											.	AVL9	66	.	0			c.T769A						PASS	.	T	SER/CYS	794,3612	314.7+/-293.7	89,616,1498	97	94	95		769	-1.3	0	7	dbSNP_100	95	1098,7502	228.0+/-263.2	64,970,3266	yes	missense	AVL9	NM_015060.1	112	153,1586,4764	AA,AT,TT		12.7674,18.0209,14.5471	benign	257/649	32598630	1892,11114	2203	4300	6503	SO:0001583	missense	23080	exon10			AACCCATGTGCAG	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.769T>A	7.37:g.32598630T>A	ENSP00000315568:p.Cys257Ser	Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	177	117	0.661017	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	327	0.14972527472527472	98	0.1991869918699187	39	0.10773480662983426	91	0.1590909090909091	99	0.13060686015831136	T	0.014	-1.585371	0.00872	0.180209	0.127674	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.39787	1.11;1.11;1.07;1.06	5.31	-1.29	0.09288	.	0.871343	0.10468	N	0.671197	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31916	-0.9926	9	0.08381	T	0.77	-28.4598	6.015	0.19598	0.1203:0.42:0.0:0.4597	rs2290213;rs52798277;rs2290213	257;257;257	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	S	257;257;257;257;188	ENSP00000315568:C257S;ENSP00000387011:C257S;ENSP00000385242:C257S;ENSP00000395134:C188S	ENSP00000315568:C257S	C	+	1	0	AVL9	32565155	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.114000	0.10757	-0.455000	0.07054	-0.326000	0.08463	TGT	A|0.150;C|0.000;T|0.850	0.150	strong		0.443	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		A	32598630	T	A	32598630	3	1	23	1	0	0	0	0	1	0	0	0	1228	1464	51	5	807	5	AVL9	7	32598630	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	743061	32598630	126540033	1837	18293										
AVL9	23080	hgsc.bcm.edu	37	chr7	32598656	32598656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgattttgtttctgcatcCactgctgatgtttcacatac	7	9	2	2	rs2290214	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:32598656C>T	ENST00000318709.4	+	10	1016	c.795C>T	c.(793-795)tcC>tcT	p.S265S	AVL9_ENST00000404479.1_Silent_p.S265S|AVL9_ENST00000409301.1_Silent_p.S265S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	265					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTCTGCATCCACTGCTGATG	0.463													C|||	1206	0.240815	0.3306	0.1744	5008	,	,		18209	0.1319		0.165	False		,,,				2504	0.3569				p.S265S		Atlas-SNP	.											.	AVL9	66	.	0			c.C795T						PASS	.	C		1448,2958	467.9+/-355.0	235,978,990	89	85	86		795	0.1	0	7	dbSNP_100	86	1407,7193	270.4+/-288.9	114,1179,3007	no	coding-synonymous	AVL9	NM_015060.1		349,2157,3997	TT,TC,CC		16.3605,32.8643,21.9514		265/649	32598656	2855,10151	2203	4300	6503	SO:0001819	synonymous_variant	23080	exon10			TGCATCCACTGCT	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.795C>T	7.37:g.32598656C>T		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	178	110	0.617977	NM_015060	Q92573	Silent	SNP	ENST00000318709.4	37	CCDS34613.1																																																																																			C|0.781;T|0.219	0.219	strong		0.463	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		T	32598656	C	T	32598656	2	4	23	1	0	0	0	0	0	0	0	1	1228	581	21	2		2	AVL9	7	32598656	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26	32598656	126540007	1838	18294										
NPSR1	387129	hgsc.bcm.edu	37	chr7	34818113	34818113	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacatcttgacagatattaAttggcgattcactggagact	8	8	2	3	rs324981	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:34818113A>T	ENST00000360581.1	+	3	448	c.320A>T	c.(319-321)aAt>aTt	p.N107I	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.N107I|NPSR1_ENST00000359791.1_Missense_Mutation_p.N107I|NPSR1_ENST00000531252.1_Missense_Mutation_p.N96I|NPSR1_ENST00000381553.3_Missense_Mutation_p.N107I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	107			N -> I (in dbSNP:rs324981). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15073379, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.			cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACAGATATTAATTGGCGATTC	0.393													T|||	2341	0.467452	0.559	0.4092	5008	,	,		17830	0.5288		0.4622	False		,,,				2504	0.3272				p.N107I		Atlas-SNP	.											.	NPSR1	134	.	0			c.A320T	GRCh37	CM073245	NPSR1	M	rs324981	PASS	.	T	ILE/ASN,ILE/ASN	2407,1999	559.5+/-380.2	645,1117,441	110	98	102	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	320,320	5.1	0.1	7	dbSNP_79	102	3962,4638	602.0+/-394.4	920,2122,1258	yes	missense,missense	NPSR1	NM_207172.1,NM_207173.1	149,149	1565,3239,1699	TT,TA,AA		46.0698,45.37,48.9697	benign,benign	107/372,107/378	34818113	6369,6637	2203	4300	6503	SO:0001583	missense	387129	exon3			ATATTAATTGGCG	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.320A>T	7.37:g.34818113A>T	ENSP00000353788:p.Asn107Ile	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	128	82	0.640625	NM_207172	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	1052	0.4816849816849817	242	0.491869918699187	162	0.44751381215469616	298	0.5209790209790209	350	0.46174142480211083	T	0.021	-1.424493	0.01126	0.5463	0.460698	ENSG00000187258	ENST00000381553;ENST00000360581;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T	0.71222	1.56;1.56;1.56;-0.55;1.56	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000009	T	0.00012	0.0000	N	0.00427	-1.505	0.80722	P	0.0	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	0.43376	-0.9395	9	0.02654	T	1	-10.1696	8.6008	0.33742	0.1711:0.0:0.0:0.8289	rs324981;rs56577867;rs57535228;rs324981	96;107;107;107	Q6W5P4-5;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;NPSR1_HUMAN	I	107;107;107;96;107	ENSP00000370965:N107I;ENSP00000353788:N107I;ENSP00000352839:N107I;ENSP00000433258:N96I;ENSP00000370950:N107I	ENSP00000352839:N107I	N	+	2	0	NPSR1	34784638	0.847000	0.29606	0.116000	0.21606	0.191000	0.23601	2.994000	0.49433	0.895000	0.36342	-0.364000	0.07487	AAT	A|0.515;T|0.485	0.485	strong		0.393	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		T	34818113	A	T	34818113	3	4	23	1	0	0	0	0	1	0	0	0	10600	101	4	5	330	5	NPSR1	7	34818113	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2219457	34818113	124320550	1839	18295										
HERPUD2	64224	hgsc.bcm.edu	37	chr7	35709842	35709842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagaattgctgctggatgCcaatgcttcatgactttctc	8	11	2	2	rs3779234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:35709842C>T	ENST00000396081.1	-	3	1126	c.322G>A	c.(322-324)Gca>Aca	p.A108T	HERPUD2_ENST00000426180.1_5'Flank|HERPUD2_ENST00000311350.3_Missense_Mutation_p.A108T	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	108	Ser-rich.		A -> T (in dbSNP:rs3779234). {ECO:0000269|PubMed:15489334}.		response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTGCTGGATGCCAATGCTTCA	0.383													C|||	1339	0.267372	0.1203	0.3156	5008	,	,		19078	0.2649		0.3678	False		,,,				2504	0.3313				p.A108T		Atlas-SNP	.											.	HERPUD2	47	.	0			c.G322A						PASS	.	C	THR/ALA	775,3631	313.0+/-292.9	71,633,1499	144	135	138		322	2.2	0.9	7	dbSNP_107	138	3319,5281	494.2+/-373.8	651,2017,1632	yes	missense	HERPUD2	NM_022373.4	58	722,2650,3131	TT,TC,CC		38.593,17.5897,31.4778	benign	108/407	35709842	4094,8912	2203	4300	6503	SO:0001583	missense	64224	exon4			TGGATGCCAATGC	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.322G>A	7.37:g.35709842C>T	ENSP00000379390:p.Ala108Thr	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	161	158	0.981366	NM_022373	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	605	0.27701465201465203	63	0.12804878048780488	120	0.3314917127071823	141	0.2465034965034965	281	0.370712401055409	C	12.44	1.937260	0.34189	0.175897	0.38593	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000413517	T;T;T	0.24723	2.81;2.81;1.84	5.57	2.24	0.28232	.	0.600215	0.18491	N	0.139623	T	0.00012	0.0000	N	0.08118	0	0.31015	P	0.718757	B	0.14438	0.01	B	0.12156	0.007	T	0.47995	-0.9073	9	0.28530	T	0.3	-5.4519	8.905	0.35519	0.0:0.6726:0.1285:0.1989	rs3779234;rs17849911;rs17851785;rs59517106;rs3779234	108	Q9BSE4	HERP2_HUMAN	T	108;108;82	ENSP00000379390:A108T;ENSP00000310729:A108T;ENSP00000391015:A82T	ENSP00000310729:A108T	A	-	1	0	HERPUD2	35676367	0.990000	0.36364	0.901000	0.35422	0.891000	0.51852	0.811000	0.27198	0.681000	0.31386	0.460000	0.39030	GCA	C|0.703;T|0.297	0.297	strong		0.383	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		T	35709842	C	T	35709842	3	4	23	1	0	0	0	0	1	0	0	0	7064	739	26	2	922	2	HERPUD2	7	35709842	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	891729	35709842	123428821	1840	18296										
EEPD1	80820	hgsc.bcm.edu	37	chr7	36327317	36327317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctcctggggagcgagaatCccagcaagaatcacagtgat	11	12	1	3	rs196594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:36327317C>T	ENST00000242108.4	+	6	1964	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P416S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	416			P -> S (in dbSNP:rs196594).		DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAGCGAGAATCCCAGCAAGAA	0.557													C|||	221	0.0441294	0.0076	0.0692	5008	,	,		20744	0.0188		0.1024	False		,,,				2504	0.0419				p.P416S		Atlas-SNP	.											.	EEPD1	47	.	0			c.C1246T						PASS	.	C	SER/PRO	92,4314	74.7+/-112.8	1,90,2112	134	112	119		1246	2.2	0.1	7	dbSNP_79	119	934,7666	205.8+/-248.1	39,856,3405	yes	missense	EEPD1	NM_030636.2	74	40,946,5517	TT,TC,CC		10.8605,2.0881,7.8887	benign	416/570	36327317	1026,11980	2203	4300	6503	SO:0001583	missense	80820	exon6			GAGAATCCCAGCA	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1246C>T	7.37:g.36327317C>T	ENSP00000242108:p.Pro416Ser	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	249	154	0.618474	NM_030636	Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	CCDS34619.1	127	0.05815018315018315	3	0.006097560975609756	36	0.09944751381215469	12	0.02097902097902098	76	0.10026385224274406	C	1.388	-0.581648	0.03854	0.020881	0.108605	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.20738	2.05;2.05	4.72	2.23	0.28157	Endonuclease/exonuclease/phosphatase (2);	0.727053	0.13604	N	0.375640	T	0.00241	0.0007	L	0.36672	1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.13108	T	0.6	-4.9046	1.2941	0.02066	0.2712:0.3523:0.2373:0.1392	rs196594;rs1643331;rs17274985;rs52798189;rs60571123;rs196594	416	Q7L9B9	EEPD1_HUMAN	S	416	ENSP00000242108:P416S;ENSP00000442692:P416S	ENSP00000242108:P416S	P	+	1	0	EEPD1	36293842	0.000000	0.05858	0.106000	0.21319	0.086000	0.17979	0.058000	0.14301	0.799000	0.34018	0.407000	0.27541	CCC	C|0.925;T|0.075	0.075	strong		0.557	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		T	36327317	C	T	36327317	3	4	23	1	0	0	0	0	1	0	0	0	4932	855	30	2	1264	2	EEPD1	7	36327317	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	617475	36327317	122811346	1841	18297										
KIAA0895	23366	hgsc.bcm.edu	37	chr7	36366404	36366404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagttccctgtcagtcagttCattcacttccatgatcttct	5	13	6	1	rs191576648		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:36366404C>T	ENST00000297063.6	-	7	1578	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	KIAA0895_ENST00000436884.1_Missense_Mutation_p.E407K|KIAA0895_ENST00000453212.1_Missense_Mutation_p.E265K|KIAA0895_ENST00000338533.5_Missense_Mutation_p.E497K|KIAA0895_ENST00000440378.1_Missense_Mutation_p.E507K|KIAA0895_ENST00000317020.6_Missense_Mutation_p.E459K	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	510										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCAGTCAGTTCATTCACTTCC	0.418													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16857	0.0		0.0	False		,,,				2504	0.0				p.E510K		Atlas-SNP	.											.	KIAA0895	89	.	0			c.G1528A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3788		0,0,1894	180	169	172		1528,1519,1489,1219,1375	5.6	1	7		172	1,8201		0,1,4100	no	missense,missense,missense,missense,missense	KIAA0895	NM_001100425.1,NM_001199706.1,NM_001199707.1,NM_001199708.1,NM_015314.2	56,56,56,56,56	0,1,5994	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	510/521,507/518,497/508,407/418,459/470	36366404	1,11989	1894	4101	5995	SO:0001583	missense	23366	exon7			TCAGTTCATTCAC	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1528G>A	7.37:g.36366404C>T	ENSP00000297063:p.Glu510Lys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	246	100	0.406504	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.36	2.811535	0.50527	0.0	1.22E-4	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.6	5.6	0.85130	.	0.205140	0.51477	D	0.000096	T	0.45856	0.1363	L	0.33485	1.01	0.80722	D	1	B;B;B;B;B	0.31548	0.018;0.019;0.009;0.328;0.001	B;B;B;B;B	0.30495	0.023;0.023;0.015;0.116;0.004	T	0.43310	-0.9399	9	0.02654	T	1	-22.975	19.9925	0.97371	0.0:1.0:0.0:0.0	.	507;407;510;497;459	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	K	510;497;459;507;407;265	.	ENSP00000297063:E510K	E	-	1	0	KIAA0895	36332929	0.998000	0.40836	0.990000	0.47175	0.994000	0.84299	1.435000	0.34969	2.818000	0.97014	0.655000	0.94253	GAA	C|1.000;T|0.000	0.000	strong		0.418	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		T	36366404	C	T	36366404	3	4	23	1	0	0	0	0	1	0	0	0	8197	835	29	2	38	2	KIAA0895	7	36366404	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39087	36366404	122772259	1842	18298										
AOAH	313	hgsc.bcm.edu	37	chr7	36763672	36763672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggcctggactggtcatCgttggctggagaggccgagg	19	9	1	1	rs2228410	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:36763672C>T	ENST00000258749.5	-	1	481	c.82G>A	c.(82-84)Gat>Aat	p.D28N	AOAH_ENST00000535891.1_Missense_Mutation_p.D28N|AOAH_ENST00000431169.1_Missense_Mutation_p.D28N	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	28			D -> N (in dbSNP:rs11976480). {ECO:0000269|PubMed:12690205, ECO:0000269|Ref.6}.		inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACTGGTCATCGTTGGCTGGA	0.502													C|||	1758	0.351038	0.1293	0.4294	5008	,	,		17607	0.5248		0.3569	False		,,,				2504	0.41				p.D28N		Atlas-SNP	.											.	AOAH	79	.	0			c.G82A	GRCh37	CM064972	AOAH	M	rs11976480	PASS	.	C	ASN/ASP,ASN/ASP,ASN/ASP	668,3738	282.8+/-276.7	52,564,1587	56	60	58		82,82,82	-0.6	0	7	dbSNP_120	58	2805,5795	444.1+/-360.6	447,1911,1942	yes	missense,missense,missense	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	23,23,23	499,2475,3529	TT,TC,CC		32.6163,15.1611,26.7031	benign,benign,benign	28/689,28/544,28/576	36763672	3473,9533	2203	4300	6503	SO:0001583	missense	313	exon1			GGTCATCGTTGGC	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.82G>A	7.37:g.36763672C>T	ENSP00000258749:p.Asp28Asn	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	80	31	0.3875	NM_001177507	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	CCDS5448.1	771	0.35302197802197804	63	0.12804878048780488	136	0.3756906077348066	294	0.513986013986014	278	0.36675461741424803	C	5.549	0.286216	0.10513	0.151611	0.326163	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647;ENST00000435386	T;T;T;T	0.77620	1.63;-1.07;-1.11;0.66	4.18	-0.577	0.11727	.	3.465610	0.00944	N	0.002871	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.18968	0.0;0.032;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.29792	-1.0000	8	0.23891	T	0.37	-9.38	5.0497	0.14501	0.0:0.4354:0.1664:0.3982	rs11976480;rs52827163;rs58377668;rs11976480	28;28;28	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	N	28	ENSP00000441101:D28N;ENSP00000258749:D28N;ENSP00000405683:D28N;ENSP00000416051:D28N	ENSP00000258749:D28N	D	-	1	0	AOAH	36730197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.187000	0.09656	-0.447000	0.07138	-2.449000	0.00209	GAT	C|0.697;T|0.303	0.303	strong		0.502	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		T	36763672	C	T	36763672	3	4	23	1	0	0	0	0	1	0	0	0	726	884	31	1	2070	1	AOAH	7	36763672	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	397268	36763672	122374991	1843	18299										
AMPH	273	hgsc.bcm.edu	37	chr7	38431415	38431415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgctagctggtcagcagcCcccatggctggtgcagaagg	15	11	1	1	rs55969455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:38431415C>T	ENST00000356264.2	-	19	2027	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	AMPH_ENST00000325590.5_Silent_p.G562G|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.G562G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	604					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGTCAGCAGCCCCCATGGCTG	0.567													C|||	28	0.00559105	0.0	0.0072	5008	,	,		15344	0.0		0.0219	False		,,,				2504	0.001				p.G604G		Atlas-SNP	.											.	AMPH	157	.	0			c.G1812A						PASS	.	C	,	20,4386	26.2+/-53.5	0,20,2183	52	51	51		1812,1686	-6.7	0	7	dbSNP_129	51	170,8430	76.9+/-139.5	0,170,4130	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	0,190,6313	TT,TC,CC		1.9767,0.4539,1.4609	,	604/696,562/654	38431415	190,12816	2203	4300	6503	SO:0001819	synonymous_variant	273	exon19			AGCAGCCCCCATG		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1812G>A	7.37:g.38431415C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	156	101	0.647436	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	22	0.010073260073260074	0	0.0	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	2.923	-0.222811	0.06061	0.004539	0.019767	ENSG00000078053	ENST00000441628	T	0.31769	1.48	3.51	-6.71	0.01760	.	0.915112	0.09049	N	0.856102	T	0.04452	0.0122	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	7	0.11182	T	0.66	-2.7575	3.3029	0.06989	0.3659:0.2867:0.0:0.3473	rs55969455	.	.	.	S	487	ENSP00000415085:G487S	ENSP00000415085:G487S	G	-	1	0	AMPH	38397940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.401000	0.07232	-1.160000	0.02804	-2.069000	0.00389	GGC	C|0.987;T|0.013	0.013	strong		0.567	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38431415	C	T	38431415	2	4	23	1	0	0	0	0	0	0	0	1	588	610	22	2		2	AMPH	7	38431415	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1667743	38431415	120707248	1844	18300										
AMPH	273	hgsc.bcm.edu	37	chr7	38431511	38431511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtggggcccggaggagcCgcgtcctcggtggtctcctt	17	13	1	0	rs2229922	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:38431511C>T	ENST00000356264.2	-	19	1931	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	AMPH_ENST00000325590.5_Silent_p.A530A|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.A530A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	572					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGGAGGAGCCGCGTCCTCGG	0.607													C|||	368	0.0734824	0.0401	0.0893	5008	,	,		15646	0.004		0.1064	False		,,,				2504	0.1452				p.A572A		Atlas-SNP	.											AMPH,NS,carcinoma,-1,1	AMPH	157	1	0			c.G1716A						PASS	.	C	,	166,4240	110.4+/-148.6	4,158,2041	59	56	57		1716,1590	-9.5	0	7	dbSNP_98	57	974,7626	212.0+/-252.4	45,884,3371	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	49,1042,5412	TT,TC,CC		11.3256,3.7676,8.7652	,	572/696,530/654	38431511	1140,11866	2203	4300	6503	SO:0001819	synonymous_variant	273	exon19			AGGAGCCGCGTCC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1716G>A	7.37:g.38431511C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	140	64	0.457143	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	137	0.06272893772893773	26	0.052845528455284556	30	0.08287292817679558	0	0.0	81	0.10686015831134564	C	7.174	0.588285	0.13812	0.037676	0.113256	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.5	0.00584	.	.	.	.	.	T	0.00210	0.0006	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.17018	-1.0383	3	.	.	.	-0.0635	0.0536	0.00013	0.3054:0.1844:0.2262:0.2839	rs2229922;rs2229922	.	.	.	S	455	.	.	G	-	1	0	AMPH	38398036	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.378000	0.01068	-1.937000	0.01047	-0.229000	0.12294	GGC	C|0.919;T|0.081	0.081	strong		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38431511	C	T	38431511	2	4	23	1	0	0	0	0	0	0	0	1	588	639	23	1		1	AMPH	7	38431511	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	96	38431511	120707152	1845	18301										
VPS41	27072	hgsc.bcm.edu	37	chr7	38829465	38829465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccgttccttcactgagcaCacctggaaaataagttcgca	8	12	1	1	rs1001476	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:38829465C>T	ENST00000310301.4	-	10	774	c.720G>A	c.(718-720)gtG>gtA	p.V240V	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.V215V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	240					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCACTGAGCACACCTGGAAAA	0.363													T|||	592	0.118211	0.3533	0.0576	5008	,	,		20768	0.0		0.0676	False		,,,				2504	0.0174				p.V240V		Atlas-SNP	.											.	VPS41	102	.	0			c.G720A						PASS	.	T	,	1273,3133	702.5+/-406.9	194,885,1124	127	117	120		720,645	-6.5	0.9	7	dbSNP_86	120	607,7993	792.1+/-407.5	21,565,3714	no	coding-synonymous,coding-synonymous	VPS41	NM_014396.3,NM_080631.3	,	215,1450,4838	TT,TC,CC		7.0581,28.8924,14.4549	,	240/855,215/830	38829465	1880,11126	2203	4300	6503	SO:0001819	synonymous_variant	27072	exon10			TGAGCACACCTGG	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.720G>A	7.37:g.38829465C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	188	84	0.446809	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	CCDS5457.1																																																																																			T|0.138;G|0.005	0.138	strong		0.363	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38829465	C	T	38829465	2	4	23	1	0	0	0	0	0	0	0	1	17207	465	17	2		2	VPS41	7	38829465	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	397954	38829465	120309198	1846	18302										
GLI3	2737	hgsc.bcm.edu	37	chr7	42004600	42004600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcagctctctggcccttgGtagatgttgatgtgtgaggt	15	7	1	3	rs34089404	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:42004600G>A	ENST00000395925.3	-	15	4155	c.4071C>T	c.(4069-4071)taC>taT	p.Y1357Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1357					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGGCCCTTGGTAGATGTTGA	0.642									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A|||	277	0.0553115	0.0666	0.0403	5008	,	,		18248	0.0069		0.0736	False		,,,				2504	0.0818				p.Y1357Y		Atlas-SNP	.											.	GLI3	312	.	0			c.C4071T						PASS	.	A		241,4165	792.7+/-415.2	9,223,1971	35	34	34	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4071	-1	0.4	7	dbSNP_126	34	765,7833	776.2+/-407.7	40,685,3574	no	coding-synonymous	GLI3	NM_000168.5		49,908,5545	AA,AG,GG		8.8974,5.4698,7.7361		1357/1581	42004600	1006,11998	2203	4299	6502	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;	CCCTTGGTAGATG		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4071C>T	7.37:g.42004600G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	144	44	0.305556	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																			G|0.927;A|0.073	0.073	strong		0.642	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42004600	G	A	42004600	2	1	23	1	0	0	0	0	0	0	0	1	6439	1256	44	2		2	GLI3	7	42004600	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3175135	42004600	117134063	1847	18303										
GLI3	2737	hgsc.bcm.edu	37	chr7	42005836	42005836	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatcctctccatgttgggCaggggcgtcggcggcggccc	15	15	2	0	rs61758978	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:42005836C>G	ENST00000395925.3	-	15	2919	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	945					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCATGTTGGGCAGGGGCGTCG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C|||	42	0.00838658	0.0023	0.0216	5008	,	,		14107	0.0		0.0189	False		,,,				2504	0.0051				p.L945L		Atlas-SNP	.											.	GLI3	312	.	0			c.G2835C						PASS	.	C		14,4322		0,14,2154	11	15	14	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2835	4.1	1	7	dbSNP_129	14	162,8342		4,154,4094	no	coding-synonymous	GLI3	NM_000168.5		4,168,6248	GG,GC,CC		1.905,0.3229,1.3707		945/1581	42005836	176,12664	2168	4252	6420	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;	GTTGGGCAGGGGC		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2835G>C	7.37:g.42005836C>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																			C|0.986;G|0.014	0.014	strong		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		G	42005836	C	G	42005836	2	3	23	1	0	0	0	0	0	0	0	1	6439	697	25	4		4	GLI3	7	42005836	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1236	42005836	117132827	1848	18304										
BLVRA	644	hgsc.bcm.edu	37	chr7	43830888	43830888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggagtccagcagatttctTtggaggatgctctttccagc	11	9	2	1	rs1802846	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:43830888T>C	ENST00000402924.1	+	5	338	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	BLVRA_ENST00000265523.4_Silent_p.L59L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	59					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.L59L(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCAGATTTCTTTGGAGGATGC	0.502													T|||	530	0.105831	0.1127	0.1671	5008	,	,		16706	0.0804		0.1213	False		,,,				2504	0.0634				p.L59L		Atlas-SNP	.											BLVRA,NS,carcinoma,0,1	BLVRA	26	1	1	Substitution - coding silent(1)	stomach(1)	c.T175C						PASS	.	T		461,3945	220.0+/-237.6	27,407,1769	127	120	122		175	-2.1	1	7	dbSNP_89	122	953,7647	208.4+/-249.9	52,849,3399	no	coding-synonymous	BLVRA	NM_000712.3		79,1256,5168	CC,CT,TT		11.0814,10.463,10.8719		59/297	43830888	1414,11592	2203	4300	6503	SO:0001819	synonymous_variant	644	exon5			ATTTCTTTGGAGG	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.175T>C	7.37:g.43830888T>C		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	182	59	0.324176	NM_001253823	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	CCDS5472.1																																																																																			T|0.890;C|0.110	0.110	strong		0.502	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		C	43830888	T	C	43830888	2	2	23	1	0	0	0	0	0	0	0	1	1451	1838	64	2		2	BLVRA	7	43830888	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1825052	43830888	115307775	1849	18305										
BLVRA	644	hgsc.bcm.edu	37	chr7	43843423	43843423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtatatgaaaatgacagtGtgtctggagacagagaagaa	12	4	1	5	rs1131372	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:43843423G>A	ENST00000402924.1	+	8	772	c.609G>A	c.(607-609)gtG>gtA	p.V203V	BLVRA_ENST00000265523.4_Silent_p.V203V	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	203					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.V203V(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						AAATGACAGTGTGTCTGGAGA	0.468													G|||	450	0.0898562	0.053	0.1657	5008	,	,		20684	0.0804		0.1223	False		,,,				2504	0.0624				p.V203V		Atlas-SNP	.											BLVRA,NS,carcinoma,0,1	BLVRA	26	1	1	Substitution - coding silent(1)	stomach(1)	c.G609A						PASS	.	G		241,4165	140.4+/-175.9	8,225,1970	114	116	115		609	1.7	1	7	dbSNP_86	115	949,7651	207.7+/-249.4	52,845,3403	no	coding-synonymous	BLVRA	NM_000712.3		60,1070,5373	AA,AG,GG		11.0349,5.4698,9.1496		203/297	43843423	1190,11816	2203	4300	6503	SO:0001819	synonymous_variant	644	exon8			GACAGTGTGTCTG	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.609G>A	7.37:g.43843423G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	95	33	0.347368	NM_001253823	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	CCDS5472.1																																																																																			G|0.908;A|0.092	0.092	strong		0.468	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		A	43843423	G	A	43843423	2	1	23	1	0	0	0	0	0	0	0	1	1451	1364	48	2		2	BLVRA	7	43843423	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12535	43843423	115295240	1850	18306										
POLM	27434	hgsc.bcm.edu	37	chr7	44121936	44121936	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgacccatgcgaggctcgacCaggtagatggcgactcccgg	14	14	0	1	rs3218655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:44121936C>A	ENST00000242248.5	-	1	203	c.102G>T	c.(100-102)ctG>ctT	p.L34L	POLM_ENST00000395831.3_Silent_p.L34L|POLM_ENST00000335195.6_Silent_p.L34L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	34	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGCTCGACCAGGTAGATGG	0.736								DNA polymerases (catalytic subunits)					C|||	853	0.170327	0.2163	0.1844	5008	,	,		9905	0.1111		0.1491	False		,,,				2504	0.181				p.L34L		Atlas-SNP	.											.	POLM	50	.	0			c.G102T						PASS	.	C		772,3464		79,614,1425	7	8	8		102	4.4	1	7	dbSNP_106	8	995,7359		69,857,3251	no	coding-synonymous	POLM	NM_013284.2		148,1471,4676	AA,AC,CC		11.9105,18.2247,14.0349		34/495	44121936	1767,10823	2118	4177	6295	SO:0001819	synonymous_variant	27434	exon1			CTCGACCAGGTAG	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.102G>T	7.37:g.44121936C>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	29	13	0.448276	NM_013284	D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																			C|0.841;A|0.159	0.159	strong		0.736	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44121936	C	A	44121936	2	1	23	1	0	0	0	0	0	0	0	1	12206	581	21	4		4	POLM	7	44121936	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	278513	44121936	115016727	1851	18307										
CAMK2B	816	hgsc.bcm.edu	37	chr7	44282928	44282928	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtagcctggtgtgccagcGaaacctagagagaggggaag	17	7	0	2	rs17172630	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:44282928G>A	ENST00000395749.2	-	8	598	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CAMK2B_ENST00000395747.2_Silent_p.F174F|CAMK2B_ENST00000502837.2_Silent_p.F45F|CAMK2B_ENST00000347193.4_Silent_p.F174F|CAMK2B_ENST00000440254.2_Silent_p.F174F|CAMK2B_ENST00000353625.4_Silent_p.F174F|CAMK2B_ENST00000346990.4_Silent_p.F174F|CAMK2B_ENST00000457475.1_Silent_p.F174F|CAMK2B_ENST00000358707.3_Silent_p.F174F|CAMK2B_ENST00000258682.6_Silent_p.F174F|CAMK2B_ENST00000350811.3_Silent_p.F174F	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTGCCAGCGAAACCTAGAG	0.617													.|||	278	0.0555112	0.0023	0.0331	5008	,	,		18355	0.0675		0.0726	False		,,,				2504	0.1135				p.F174F		Atlas-SNP	.											CAMK2B,NS,carcinoma,0,1	CAMK2B	56	1	0			c.C522T						PASS	.	G	,,,,,,,	63,4343	59.3+/-96.0	0,63,2140	97	90	92		522,522,522,522,522,522,522,522	-0.7	0.8	7	dbSNP_123	92	707,7893	173.2+/-223.7	29,649,3622	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMK2B	NM_001220.4,NM_172078.2,NM_172079.2,NM_172080.2,NM_172081.2,NM_172082.2,NM_172083.2,NM_172084.2	,,,,,,,	29,712,5762	AA,AG,GG		8.2209,1.4299,5.9203	,,,,,,,	174/667,174/543,174/519,174/518,174/504,174/493,174/480,174/450	44282928	770,12236	2203	4300	6503	SO:0001819	synonymous_variant	816	exon8			GCCAGCGAAACCT	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.522C>T	7.37:g.44282928G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	141	41	0.29078	NM_172081	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	CCDS5483.1																																																																																			G|0.945;A|0.055	0.055	strong		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		A	44282928	G	A	44282928	2	1	23	1	0	0	0	0	0	0	0	1	2600	1049	37	1		1	CAMK2B	7	44282928	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	160992	44282928	114855735	1852	18308										
ZMIZ2	83637	hgsc.bcm.edu	37	chr7	44805814	44805814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagtccttcccacccaccaCgcccagcaccccaacccttg	5	22	0	1	rs145522270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:44805814C>T	ENST00000309315.4	+	17	2417	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.T707M|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.T739M|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.T765M|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.T733M|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	765	Pro-rich.			T -> M (in Ref. 1, 6 and 8; CAB66507). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACCCACCACGCCCAGCACC	0.637													C|||	9	0.00179712	0.0	0.0043	5008	,	,		14115	0.0		0.006	False		,,,				2504	0.0				p.T765M	NSCLC(20;604 852 1948 16908 50522)	Atlas-SNP	.											.	ZMIZ2	82	.	0			c.C2294T						PASS	.	C	MET/THR,MET/THR	4,3930		0,4,1963	58	66	63		2294,2216	4.8	0	7	dbSNP_134	63	35,8221		0,35,4093	yes	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	81,81	0,39,6056	TT,TC,CC		0.4239,0.1017,0.3199	possibly-damaging,possibly-damaging	765/921,739/895	44805814	39,12151	1967	4128	6095	SO:0001583	missense	83637	exon17			CCACCACGCCCAG	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2294C>T	7.37:g.44805814C>T	ENSP00000311778:p.Thr765Met	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	48	0.578313	NM_031449	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	C	16.03	3.005711	0.54254	0.001017	0.004239	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.34072	1.38;1.4;1.4;1.39;1.41	5.67	4.79	0.61399	.	0.334339	0.25166	N	0.032632	T	0.42607	0.1210	M	0.76574	2.34	0.09310	N	0.999996	D;D;D;D	0.67145	0.966;0.996;0.982;0.993	P;P;P;P	0.61397	0.608;0.888;0.775;0.78	T	0.48091	-0.9065	10	0.59425	D	0.04	-1.0546	4.509	0.11901	0.2482:0.5464:0.1286:0.0768	.	388;739;765;707	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	M	707;765;765;733;739;768	ENSP00000409648:T707M;ENSP00000311778:T765M;ENSP00000414723:T765M;ENSP00000396601:T733M;ENSP00000265346:T739M	ENSP00000265346:T739M	T	+	2	0	ZMIZ2	44772339	0.006000	0.16342	0.038000	0.18304	0.941000	0.58515	1.778000	0.38614	1.398000	0.46701	0.561000	0.74099	ACG	C|0.994;T|0.006	0.006	strong		0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		T	44805814	C	T	44805814	3	4	23	1	0	0	0	0	1	0	0	0	17694	536	19	1	2356	1	ZMIZ2	7	44805814	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	522886	44805814	114332849	1853	18309										
MYO1G	64005	hgsc.bcm.edu	37	chr7	45005795	45005795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacgtccccctgcagcccGtgctgctccaggagagcgct	12	18	0	1	rs2269969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:45005795G>A	ENST00000258787.7	-	16	2170	c.2034C>T	c.(2032-2034)caC>caT	p.H678H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	678	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCTGCAGCCCGTGCTGCTCCA	0.632													G|||	555	0.110823	0.0461	0.1671	5008	,	,		17924	0.0942		0.2197	False		,,,				2504	0.0634				p.H678H		Atlas-SNP	.											.	MYO1G	86	.	0			c.C2034T						PASS	.	G		310,4096	162.5+/-194.5	12,286,1905	53	48	50		2034	-5.9	0.7	7	dbSNP_100	50	1721,6879	308.9+/-309.1	176,1369,2755	no	coding-synonymous	MYO1G	NM_033054.2		188,1655,4660	AA,AG,GG		20.0116,7.0359,15.6159		678/1019	45005795	2031,10975	2203	4300	6503	SO:0001819	synonymous_variant	64005	exon16			CAGCCCGTGCTGC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2034C>T	7.37:g.45005795G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	116	70	0.603448	NM_033054	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	CCDS34629.1																																																																																			G|0.848;A|0.152	0.152	strong		0.632	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45005795	G	A	45005795	2	1	23	1	0	0	0	0	0	0	0	1	10074	1136	40	1		1	MYO1G	7	45005795	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	199981	45005795	114132868	1854	18310										
MYO1G	64005	hgsc.bcm.edu	37	chr7	45015107	45015107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagtaggtagctgtggatGtgtcctccgatcgggtcccc	13	12	0	0	rs61738857	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:45015107G>A	ENST00000258787.7	-	4	676	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	180	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGCTGTGGATGTGTCCTCCGA	0.597													G|||	645	0.128794	0.1006	0.1772	5008	,	,		20162	0.0962		0.2266	False		,,,				2504	0.0654				p.H180H		Atlas-SNP	.											.	MYO1G	86	.	0			c.C540T						PASS	.	G		500,3906	229.4+/-244.0	22,456,1725	106	103	104		540	2.5	1	7	dbSNP_129	104	1819,6781	326.4+/-317.4	192,1435,2673	no	coding-synonymous	MYO1G	NM_033054.2		214,1891,4398	AA,AG,GG		21.1512,11.3482,17.8302		180/1019	45015107	2319,10687	2203	4300	6503	SO:0001819	synonymous_variant	64005	exon4			GTGGATGTGTCCT	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.540C>T	7.37:g.45015107G>A		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	284	164	0.577465	NM_033054	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	CCDS34629.1																																																																																			G|0.831;A|0.169	0.169	strong		0.597	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45015107	G	A	45015107	2	1	23	1	0	0	0	0	0	0	0	1	10074	1368	48	2		2	MYO1G	7	45015107	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9312	45015107	114123556	1855	18311										
MYO1G	64005	hgsc.bcm.edu	37	chr7	45016621	45016621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctcctggtaggggttcaCggacaccagcacctcaccga	11	15	2	0	rs61739531	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:45016621C>T	ENST00000258787.7	-	2	281	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	49	Myosin motor.		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes; dbSNP:rs61739531). {ECO:0000269|PubMed:11544309}.			extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TAGGGGTTCACGGACACCAGC	0.627													C|||	686	0.136981	0.1293	0.1859	5008	,	,		19617	0.0952		0.2296	False		,,,				2504	0.0603				p.V49M		Atlas-SNP	.											MYO1G,bladder,carcinoma,+2,1	MYO1G	86	1	0			c.G145A						PASS	.	C	MET/VAL	652,3754	276.9+/-273.4	50,552,1601	76	71	72		145	3.9	1	7	dbSNP_129	72	1829,6771	329.2+/-318.6	194,1441,2665	yes	missense	MYO1G	NM_033054.2	21	244,1993,4266	TT,TC,CC		21.2674,14.798,19.0758	benign	49/1019	45016621	2481,10525	2203	4300	6503	SO:0001583	missense	64005	exon2			GGTTCACGGACAC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.145G>A	7.37:g.45016621C>T	ENSP00000258787:p.Val49Met	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	172	101	0.587209	NM_033054	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	359	0.16437728937728938	59	0.11991869918699187	70	0.19337016574585636	51	0.08916083916083917	179	0.23614775725593667	C	15.91	2.971733	0.53614	0.14798	0.212674	ENSG00000136286	ENST00000258787	D	0.90955	-2.76	3.93	3.93	0.45458	Myosin head, motor domain (3);	0.000000	0.33834	N	0.004504	T	0.00210	0.0006	L	0.51853	1.615	0.19775	P	0.9999526654	D	0.60160	0.987	P	0.53593	0.73	T	0.00359	-1.1791	9	0.37606	T	0.19	.	9.7576	0.40513	0.0:0.8973:0.0:0.1027	rs61739531	49	B0I1T2	MYO1G_HUMAN	M	49	ENSP00000258787:V49M	ENSP00000258787:V49M	V	-	1	0	MYO1G	44983146	0.998000	0.40836	0.988000	0.46212	0.863000	0.49368	3.760000	0.55235	2.199000	0.70637	0.655000	0.94253	GTG	C|0.817;T|0.183	0.183	strong		0.627	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			T	45016621	C	T	45016621	3	4	23	1	0	0	0	0	1	0	0	0	10074	536	19	1	2995	1	MYO1G	7	45016621	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1514	45016621	114122042	1856	18312										
CCM2	83605	hgsc.bcm.edu	37	chr7	45104131	45104131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcctgtctgcgtacaacGtcaagctggcctggagggac	13	12	3	0	rs11552377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:45104131G>A	ENST00000258781.6	+	4	507	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	CCM2_ENST00000541586.1_Missense_Mutation_p.V62I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Missense_Mutation_p.V114I|CCM2_ENST00000475551.1_Missense_Mutation_p.V114I|CCM2_ENST00000544363.1_Missense_Mutation_p.V120I|CCM2_ENST00000381112.3_Missense_Mutation_p.V141I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	120	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.		V -> I (in dbSNP:rs11552377). {ECO:0000269|PubMed:14740320}.		blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCGTACAACGTCAAGCTGGC	0.587													G|||	541	0.108027	0.0166	0.1671	5008	,	,		19600	0.1091		0.174	False		,,,				2504	0.1207				p.V141I		Atlas-SNP	.											.	CCM2	42	.	0			c.G421A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	176,4230	114.6+/-152.6	1,174,2028	79	53	62		421,184,358,358	3.2	1	7	dbSNP_120	62	1582,7018	295.9+/-302.6	140,1302,2858	yes	missense,missense,missense,missense	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	29,29,29,29	141,1476,4886	AA,AG,GG		18.3953,3.9946,13.5168	benign,benign,benign,benign	141/466,62/387,120/354,120/445	45104131	1758,11248	2203	4300	6503	SO:0001583	missense	83605	exon4			TACAACGTCAAGC	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.358G>A	7.37:g.45104131G>A	ENSP00000258781:p.Val120Ile	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	54	16	0.296296	NM_001029835	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	CCDS5500.1	254	0.1163003663003663	8	0.016260162601626018	65	0.17955801104972377	50	0.08741258741258741	131	0.17282321899736147	G	10.82	1.458249	0.26161	0.039946	0.183953	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.54071	0.59;0.59;0.93;0.59;0.59;0.93	5.32	3.15	0.36227	Phosphotyrosine interaction domain (1);	0.255439	0.39544	N	0.001340	T	0.00073	0.0002	L	0.28115	0.83	0.29732	P	0.8377749999999999	P;P;B;B;B;B	0.40032	0.586;0.699;0.027;0.015;0.027;0.015	B;B;B;B;B;B	0.29176	0.099;0.083;0.009;0.006;0.017;0.006	T	0.12319	-1.0552	9	0.18710	T	0.47	-40.2272	9.6734	0.40026	0.2402:0.0:0.7598:0.0	rs11552377;rs17451775;rs11552377	113;83;141;120;62;120	B7Z5A6;B7Z8D5;E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;.;.;CCM2_HUMAN	I	120;62;120;114;141;114	ENSP00000258781:V120I;ENSP00000444725:V62I;ENSP00000438035:V120I;ENSP00000417180:V114I;ENSP00000370503:V141I;ENSP00000419474:V114I	ENSP00000258781:V120I	V	+	1	0	CCM2	45070656	0.995000	0.38212	0.998000	0.56505	0.962000	0.63368	2.274000	0.43390	1.244000	0.43870	0.655000	0.94253	GTC	G|0.879;A|0.121	0.121	strong		0.587	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		A	45104131	G	A	45104131	3	1	23	1	0	0	0	0	1	0	0	0	2908	1145	40	1	469	1	CCM2	7	45104131	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	87510	45104131	114034532	1857	18313										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47917087	47917087	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatggggttgtccacgtacCggttttccagacatgcagaa	11	10	0	2	rs72601626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:47917087C>T	ENST00000289672.2	-	22	3713	c.3663G>A	c.(3661-3663)ccG>ccA	p.P1221P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1221	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCCACGTACCGGTTTTCCAG	0.582													C|||	239	0.0477236	0.0227	0.0331	5008	,	,		16430	0.0595		0.0746	False		,,,				2504	0.0521				p.P1221P		Atlas-SNP	.											.	PKD1L1	328	.	0			c.G3663A						PASS	.	C		101,4305	81.9+/-120.4	0,101,2102	148	138	141		3663	4.4	0.9	7	dbSNP_130	141	602,7998	159.4+/-212.7	23,556,3721	yes	coding-synonymous-near-splice	PKD1L1	NM_138295.3		23,657,5823	TT,TC,CC		7.0,2.2923,5.4052		1221/2850	47917087	703,12303	2203	4300	6503	SO:0001630	splice_region_variant	168507	exon22			ACGTACCGGTTTT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3663+1G>A	7.37:g.47917087C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	144	74	0.513889	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			C|0.942;T|0.058	0.058	strong		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Silent	T	47917087	C	T	47917087	5	4	23	1	0	0	0	0	0	0	1	0	11964	666	23	1	5030	1	PKD1L1	7	47917087	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2812956	47917087	111221576	1858	18314										
PKD1L1	168507	hgsc.bcm.edu	37	chr7	47968927	47968927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccagaagccatatgaaCacggaatcccagatttggag	9	11	1	3	rs2686817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:47968927C>A	ENST00000289672.2	-	7	984	c.934G>T	c.(934-936)Gtt>Ttt	p.V312F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	312			V -> F (in dbSNP:rs2686817).		detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCATATGAACACGGAATCCC	0.498													C|||	2428	0.484824	0.5136	0.5072	5008	,	,		19692	0.5089		0.505	False		,,,				2504	0.3845				p.V312F		Atlas-SNP	.											.	PKD1L1	328	.	0			c.G934T						PASS	.	C	PHE/VAL	2182,2224	586.2+/-386.4	556,1070,577	156	162	160		934	2	0	7	dbSNP_100	160	4220,4380	571.8+/-389.6	1029,2162,1109	yes	missense	PKD1L1	NM_138295.3	50	1585,3232,1686	AA,AC,CC		49.0698,49.5234,49.2234	probably-damaging	312/2850	47968927	6402,6604	2203	4300	6503	SO:0001583	missense	168507	exon7			TATGAACACGGAA	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.934G>T	7.37:g.47968927C>A	ENSP00000289672:p.Val312Phe	Somatic	273	2	0.00732601		WXS	Illumina HiSeq	Phase_I	249	243	0.975904	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	1075	0.49221611721611724	230	0.46747967479674796	174	0.48066298342541436	279	0.48776223776223776	392	0.5171503957783641	C	13.77	2.335500	0.41398	0.495234	0.490698	ENSG00000158683	ENST00000289672	T	0.42131	0.98	3.97	2.03	0.26663	.	3.865810	0.00589	N	0.000357	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	D	0.89917	1.0	D	0.80764	0.994	T	0.42882	-0.9425	9	0.87932	D	0	-11.5068	5.4202	0.16396	0.0:0.68:0.2049:0.1151	rs2686817;rs2686817	312	Q8TDX9	PK1L1_HUMAN	F	312	ENSP00000289672:V312F	ENSP00000289672:V312F	V	-	1	0	PKD1L1	47935452	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.448000	0.21726	0.395000	0.25257	0.579000	0.79373	GTT	C|0.513;A|0.487	0.487	strong		0.498	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47968927	C	A	47968927	3	1	23	1	0	0	0	0	1	0	0	0	11964	478	17	4	7819	4	PKD1L1	7	47968927	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	51840	47968927	111169736	1859	18315										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48313510	48313510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccagtttttcacaaggtcAtcttcaaaatattttgggga	7	8	4	0	rs17547830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:48313510A>G	ENST00000435803.1	+	17	4271	c.4247A>G	c.(4246-4248)cAt>cGt	p.H1416R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1416				H -> R (in Ref. 1; AAP13576). {ECO:0000305}.	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						TCACAAGGTCATCTTCAAAAT	0.303													A|||	938	0.1873	0.1566	0.2032	5008	,	,		17417	0.0129		0.3917	False		,,,				2504	0.1871				p.H1416R		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A4247G						PASS	.	A	ARG/HIS	671,2947		69,533,1207	39	36	37		4247	-7.5	0	7	dbSNP_123	37	2865,5253		499,1867,1693	yes	missense	ABCA13	NM_152701.3	29	568,2400,2900	GG,GA,AA		35.2919,18.5462,30.1295	benign	1416/5059	48313510	3536,8200	1809	4059	5868	SO:0001583	missense	154664	exon17			AAGGTCATCTTCA	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.4247A>G	7.37:g.48313510A>G	ENSP00000411096:p.His1416Arg	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	477	0.2184065934065934	85	0.17276422764227642	80	0.22099447513812154	5	0.008741258741258742	307	0.4050131926121372	A	3.082	-0.188874	0.06299	0.185462	0.352919	ENSG00000179869	ENST00000435803	D	0.85088	-1.94	5.04	-7.5	0.01351	.	0.720289	0.12327	N	0.478767	T	0.00012	0.0000	L	0.28115	0.83	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.19192	-1.0313	8	.	.	.	.	2.3723	0.04333	0.2845:0.3312:0.2764:0.1079	rs17547830;rs52821200;rs58931054;rs17547830	1416	Q86UQ4	ABCAD_HUMAN	R	1416	ENSP00000411096:H1416R	.	H	+	2	0	ABCA13	48284056	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.100000	0.10990	-1.571000	0.01663	-0.464000	0.05259	CAT	A|0.781;G|0.219	0.219	strong		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48313510	A	G	48313510	3	3	23	1	0	0	0	0	1	0	0	0	31	217	8	2	4142	2	ABCA13	7	48313510	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	344583	48313510	110825153	1860	18316										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48315930	48315930	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagctgggaattctcaggaaGcagcttggaacttaaatgat	11	6	1	1	rs74859514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:48315930G>C	ENST00000435803.1	+	17	6691	c.6667G>C	c.(6667-6669)Gca>Cca	p.A2223P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2223					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						TTCTCAGGAAGCAGCTTGGAA	0.343													G|||	156	0.0311502	0.0045	0.0447	5008	,	,		17853	0.001		0.1024	False		,,,				2504	0.0153				p.A2223P		Atlas-SNP	.											.	ABCA13	1192	.	0			c.G6667C						PASS	.	G	PRO/ALA	68,3578		0,68,1755	24	23	23		6667	3.2	0	7	dbSNP_132	23	747,7423		27,693,3365	yes	missense	ABCA13	NM_152701.3	27	27,761,5120	CC,CG,GG		9.1432,1.8651,6.8974	possibly-damaging	2223/5059	48315930	815,11001	1823	4085	5908	SO:0001583	missense	154664	exon17			CAGGAAGCAGCTT	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.6667G>C	7.37:g.48315930G>C	ENSP00000411096:p.Ala2223Pro	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	148	148	1	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	97	0.044413919413919416	7	0.014227642276422764	15	0.04143646408839779	0	0.0	75	0.09894459102902374	G	6.878	0.531385	0.13127	0.018651	0.091432	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.03	3.19	0.36642	.	0.444772	0.18764	N	0.131819	T	0.00666	0.0022	L	0.50333	1.59	0.49798	P	1.7900000000004024E-4	B	0.21309	0.054	B	0.20767	0.031	T	0.09292	-1.0681	8	.	.	.	.	9.5523	0.39317	0.1537:0.0:0.8463:0.0	.	2223	Q86UQ4	ABCAD_HUMAN	P	2223	ENSP00000411096:A2223P	.	A	+	1	0	ABCA13	48286476	0.930000	0.31532	0.015000	0.15790	0.034000	0.12701	1.981000	0.40628	0.508000	0.28173	0.491000	0.48974	GCA	G|0.939;C|0.061	0.061	strong		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48315930	G	C	48315930	3	2	23	1	0	0	0	0	1	0	0	0	31	971	34	4	6562	4	ABCA13	7	48315930	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2420	48315930	110822733	1861	18317										
IKZF1	10320	hgsc.bcm.edu	37	chr7	50459542	50459542	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcgccaaacgtaagagctcTatgcctcagaaatttcttgg	9	10	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:50459542T>C	ENST00000331340.3	+	7	986	c.831T>C	c.(829-831)tcT>tcC	p.S277S	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Silent_p.S235S|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Silent_p.S235S|IKZF1_ENST00000343574.5_Silent_p.S190S|IKZF1_ENST00000438033.1_Silent_p.S190S|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	277					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTAAGAGCTCTATGCCTCAGA	0.413			"D,T"	BCL6	"ALL, DLBCL"																																p.S277S		Atlas-SNP	.		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1	613	.	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)	c.T831C						PASS	.						60	59	59					7																	50459542		1858	4109	5967	SO:0001819	synonymous_variant	10320	exon7			GAGCTCTATGCCT	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.831T>C	7.37:g.50459542T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_006060	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																				.	.	none		0.413	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		C	50459542	T	C	50459542	2	2	23	1	0	0	0	0	0	0	0	1	7614	1509	53	3		3	IKZF1	7	50459542	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2143612	50459542	108679121	1862	18318										
DDC	1644	hgsc.bcm.edu	37	chr7	50607649	50607649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccaatggccccgcacagCatgtccgcaagcatggccgg	12	16	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:50607649C>T	ENST00000444124.2	-	3	479	c.279G>A	c.(277-279)atG>atA	p.M93I	DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.M93I|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.M93I|DDC_ENST00000431062.1_Missense_Mutation_p.M93I	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	93	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCCGCACAGCATGTCCGCAA	0.657																																					p.M93I		Atlas-SNP	.											DDC_ENST00000380984,NS,carcinoma,-2,2	DDC	100	2	0			c.G279A						scavenged	.						90	74	80					7																	50607649		2202	4300	6502	SO:0001583	missense	1644	exon3			GCACAGCATGTCC		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.279G>A	7.37:g.50607649C>T	ENSP00000403644:p.Met93Ile	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	183	2	0.010929	NM_001082971	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.846608|2.846608	0.51164|0.51164	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.41065	.|1.01;1.13;1.01;1.01	5.5|5.5	4.61|4.61	0.57282|0.57282	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.073190	.|0.85682	.|N	.|0.000000	T|T	0.41143|0.41143	0.1146|0.1146	L|L	0.48986|0.48986	1.54|1.54	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.18871	.|0.023;0.017	T|T	0.24977|0.24977	-1.0145|-1.0145	5|10	.|0.48119	.|T;T	.|0.1;0.1	-22.6585|-22.6585	16.2655|16.2655	0.82577|0.82577	0.0:0.867:0.133:0.0|0.0:0.867:0.133:0.0	.|.	.|93;93	.|Q53Y41;P20711	.|.;DDC_HUMAN	Y|I	59|93	.|ENSP00000350616:M93I;ENSP00000399184:M93I;ENSP00000403644:M93I;ENSP00000370371:M93I	.|ENSP00000350616:M93I;ENSP00000350616:M93I	C|M	-|-	2|3	0|0	DDC|DDC	50575143|50575143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	2.611000|2.611000	0.46334|0.46334	1.287000|1.287000	0.44583|0.44583	0.655000|0.655000	0.94253|0.94253	TGC|ATG	.	.	none		0.657	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			T	50607649	C	T	50607649	3	4	23	1	0	0	0	0	1	0	0	0	4325	710	25	2	1211	2	DDC	7	50607649	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	148107	50607649	108531014	1863	18319										
GRB10	2887	hgsc.bcm.edu	37	chr7	50660787	50660787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaagaacgtctgcccgtcGtcctcgcactggagagacac	11	14	1	3	rs3807550	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:50660787G>A	ENST00000401949.1	-	19	2116	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	GRB10_ENST00000398812.2_Silent_p.D549D|GRB10_ENST00000439599.1_Silent_p.D543D|GRB10_ENST00000402578.1_Silent_p.D491D|GRB10_ENST00000406641.1_Silent_p.D491D|GRB10_ENST00000398810.2_Silent_p.D491D|GRB10_ENST00000407526.1_Silent_p.D491D|GRB10_ENST00000402497.1_Silent_p.D491D|GRB10_ENST00000357271.5_Silent_p.D503D|GRB10_ENST00000335866.3_Silent_p.D491D|GRB10_ENST00000403097.1_Silent_p.D543D			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	549	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTGCCCGTCGTCCTCGCACT	0.557									Russell-Silver syndrome				G|||	389	0.0776757	0.0053	0.0965	5008	,	,		20589	0.0565		0.1113	False		,,,				2504	0.1493				p.D549D		Atlas-SNP	.											.	GRB10	155	.	0			c.C1647T						PASS	.	G	,,,	101,4069		1,99,1985	97	99	98		1509,1473,1473,1647	-7.3	0.5	7	dbSNP_107	98	746,7696		31,684,3506	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB10	NM_001001549.2,NM_001001550.2,NM_001001555.2,NM_005311.4	,,,	32,783,5491	AA,AG,GG		8.8368,2.4221,6.7158	,,,	503/549,491/537,491/537,549/595	50660787	847,11765	2085	4221	6306	SO:0001819	synonymous_variant	2887	exon16	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	CCCGTCGTCCTCG		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1647C>T	7.37:g.50660787G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	99	99	1	NM_005311	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																			T|0.000;G|0.913;A|0.087	0.087	strong		0.557	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			A	50660787	G	A	50660787	2	1	23	1	0	0	0	0	0	0	0	1	6756	1136	40	1		1	GRB10	7	50660787	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	53138	50660787	108477876	1864	18320										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103425	53103425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttctggaaggcgggagaaCccctgctgcaaggccccgac	13	14	1	1	rs10229800	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:53103425C>A	ENST00000408890.4	+	1	77	c.61C>A	c.(61-63)Ccc>Acc	p.P21T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	21			P -> T (in dbSNP:rs10229800).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGGGAGAACCCCTGCTGCA	0.711													C|||	623	0.124401	0.1354	0.2089	5008	,	,		12664	0.0992		0.1451	False		,,,				2504	0.0542				p.P21T		Atlas-SNP	.											.	POM121L12	146	.	0			c.C61A						PASS	.	C	THR/PRO	482,3566		32,418,1574	14	20	18		61	0.5	0	7	dbSNP_119	18	1051,7277		53,945,3166	yes	missense	POM121L12	NM_182595.3	38	85,1363,4740	AA,AC,CC		12.6201,11.9071,12.3869	possibly-damaging	21/297	53103425	1533,10843	2024	4164	6188	SO:0001583	missense	285877	exon1			GGAGAACCCCTGC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.61C>A	7.37:g.53103425C>A	ENSP00000386133:p.Pro21Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	108	65	0.601852	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	304	0.1391941391941392	69	0.1402439024390244	70	0.19337016574585636	56	0.0979020979020979	109	0.1437994722955145	C	10.16	1.275119	0.23307	0.119071	0.126201	ENSG00000221900	ENST00000408890	T	0.20881	2.04	1.66	0.497	0.16902	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.31174	0.311	B	0.18561	0.022	T	0.32481	-0.9905	8	0.05833	T	0.94	.	3.1558	0.06504	0.0:0.2723:0.0:0.7277	rs10229800;rs10229800	21	Q8N7R1	P1L12_HUMAN	T	21	ENSP00000386133:P21T	ENSP00000386133:P21T	P	+	1	0	POM121L12	53070919	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.049000	0.11924	0.138000	0.18790	-0.379000	0.06801	CCC	C|0.870;A|0.130	0.130	strong		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103425	C	A	53103425	3	1	23	1	0	0	0	0	1	0	0	0	12241	507	18	4	63	4	POM121L12	7	53103425	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2442638	53103425	106035238	1865	18321										
POM121L12	285877	hgsc.bcm.edu	37	chr7	53103794	53103794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaccatcgggatcgcgcccCctgagcgtcaggagagcccc	13	16	1	3	rs73357087	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:53103794C>T	ENST00000408890.4	+	1	446	c.430C>T	c.(430-432)Cct>Tct	p.P144S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	144				P -> S (in Ref. 3; CAD38744). {ECO:0000305}.						endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GATCGCGCCCCCTGAGCGTCA	0.711													C|||	720	0.14377	0.2073	0.2133	5008	,	,		11532	0.0982		0.1451	False		,,,				2504	0.0542				p.P144S		Atlas-SNP	.											POM121L12,NS,carcinoma,-1,1	POM121L12	146	1	0			c.C430T						PASS	.	C	SER/PRO	741,3127		76,589,1269	20	24	23		430	0.7	0	7	dbSNP_130	23	1083,7119		55,973,3073	yes	missense	POM121L12	NM_182595.3	74	131,1562,4342	TT,TC,CC		13.2041,19.1572,15.1118	probably-damaging	144/297	53103794	1824,10246	1934	4101	6035	SO:0001583	missense	285877	exon1			GCGCCCCCTGAGC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.430C>T	7.37:g.53103794C>T	ENSP00000386133:p.Pro144Ser	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	42	29	0.690476	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	363	0.1662087912087912	105	0.21341463414634146	72	0.19889502762430938	63	0.11013986013986014	123	0.16226912928759896	C	12.14	1.849414	0.32699	0.191572	0.132041	ENSG00000221900	ENST00000408890	T	0.75477	-0.94	1.76	0.674	0.17946	.	.	.	.	.	T	0.00144	0.0004	L	0.49126	1.545	0.80722	P	0.0	D	0.71674	0.998	P	0.51833	0.681	T	0.04593	-1.0940	8	0.56958	D	0.05	.	6.4991	0.22158	0.0:0.5256:0.4744:0.0	.	144	Q8N7R1	P1L12_HUMAN	S	144	ENSP00000386133:P144S	ENSP00000386133:P144S	P	+	1	0	POM121L12	53071288	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	2.258000	0.43249	0.171000	0.19730	0.455000	0.32223	CCT	C|0.843;T|0.157	0.157	strong		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103794	C	T	53103794	3	4	23	1	0	0	0	0	1	0	0	0	12241	623	22	2	432	2	POM121L12	7	53103794	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	369	53103794	106034869	1866	18322										
EGFR	1956	hgsc.bcm.edu	37	chr7	55268916	55268916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catttgccaagtcctacagaCtccaacttctaccgtgccct	5	16	1	1	rs2293347|rs587778251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:55268916C>T	ENST00000275493.2	+	25	3159	c.2982C>T	c.(2980-2982)gaC>gaT	p.D994D	EGFR_ENST00000454757.2_Silent_p.D941D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.D949D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	994					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTCCTACAGACTCCAACTTCT	0.512		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			t|||	710	0.141773	0.0129	0.1542	5008	,	,		18651	0.247		0.1113	False		,,,				2504	0.2301				p.D994D		Atlas-SNP	.	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	.	EGFR	20426	.	0			c.C2982T						PASS	.	T		121,4285	90.6+/-129.3	1,119,2083	151	139	143		2982	3.8	1	7	dbSNP_100	143	795,7805	185.7+/-233.4	42,711,3547	no	coding-synonymous	EGFR	NM_005228.3		43,830,5630	TT,TC,CC		9.2442,2.7463,7.0429		994/1211	55268916	916,12090	2203	4300	6503	SO:0001819	synonymous_variant	1956	exon25	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	TACAGACTCCAAC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2982C>T	7.37:g.55268916C>T		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	252	85	0.337302	NM_005228	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																			C|0.894;T|0.106	0.106	strong		0.512	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55268916	C	T	55268916	2	4	23	1	0	0	0	0	0	0	0	1	4967	564	20	2		2	EGFR	7	55268916	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2165122	55268916	103869747	1867	18323										
LANCL2	55915	hgsc.bcm.edu	37	chr7	55433880	55433880	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgtgttcgtcccccggcGaccacggatgagcccggcct	14	16	0	1	rs2272262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:55433880G>C	ENST00000254770.2	+	1	740	c.162G>C	c.(160-162)gcG>gcC	p.A54A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	54					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTCCCCCGGCGACCACGGATG	0.726													C|||	1451	0.289736	0.4357	0.1988	5008	,	,		12860	0.1558		0.331	False		,,,				2504	0.2526				p.A54A		Atlas-SNP	.											.	LANCL2	54	.	0			c.G162C						PASS	.	C		1722,2634		395,932,851	8	11	10		162	1.4	0	7	dbSNP_100	10	2782,5752		515,1752,2000	no	coding-synonymous	LANCL2	NM_018697.3		910,2684,2851	CC,CG,GG		32.599,39.5317,34.9418		54/451	55433880	4504,8386	2178	4267	6445	SO:0001819	synonymous_variant	55915	exon1			CCCGGCGACCACG	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.162G>C	7.37:g.55433880G>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	69	22	0.318841	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	ENST00000254770.2	37	CCDS5517.1																																																																																			G|0.685;C|0.315	0.315	strong		0.726	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		C	55433880	G	C	55433880	2	2	23	1	0	0	0	0	0	0	0	1	8621	1045	37	4		4	LANCL2	7	55433880	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	164964	55433880	103704783	1868	18324										
SEPT14	346288	hgsc.bcm.edu	37	chr7	55902230	55902230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattcttaaacgtctgtaaaTcatttttagaaatagtgtct	5	5	4	1	rs146004414	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:55902230T>C	ENST00000388975.3	-	6	724	c.608A>G	c.(607-609)gAt>gGt	p.D203G		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	203	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGTCTGTAAATCATTTTTAGA	0.348													.|||	23	0.00459265	0.0008	0.0072	5008	,	,		4554	0.0		0.0159	False		,,,				2504	0.001				p.D203G		Atlas-SNP	.											.	SEPT14	58	.	0			c.A608G						PASS	.	T	GLY/ASP	22,4384	29.0+/-57.7	0,22,2181	94	89	91		608	4.2	0.9	7	dbSNP_134	91	194,8406	85.3+/-147.7	1,192,4107	yes	missense	SEPT14	NM_207366.2	94	1,214,6288	CC,CT,TT		2.2558,0.4993,1.6608	probably-damaging	203/433	55902230	216,12790	2203	4300	6503	SO:0001583	missense	346288	exon6			TGTAAATCATTTT	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.608A>G	7.37:g.55902230T>C	ENSP00000373627:p.Asp203Gly	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	164	67	0.408537	NM_207366	A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	18	0.008241758241758242	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	14	0.018469656992084433	t	21.2	4.107748	0.77096	0.004993	0.022558	ENSG00000154997	ENST00000388975	T	0.52057	0.68	4.19	4.19	0.49359	.	0.113304	0.36665	N	0.002465	T	0.39809	0.1092	L	0.58101	1.795	0.44439	D	0.997365	P	0.49862	0.929	P	0.54431	0.752	T	0.54721	-0.8251	10	0.87932	D	0	.	11.5397	0.50659	0.0:0.0:0.0:1.0	.	203	Q6ZU15	SEP14_HUMAN	G	203	ENSP00000373627:D203G	ENSP00000373627:D203G	D	-	2	0	SEPT14	55869724	1.000000	0.71417	0.942000	0.38095	0.982000	0.71751	6.442000	0.73443	1.888000	0.54679	0.528000	0.53228	GAT	T|0.988;C|0.012	0.012	strong		0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		C	55902230	T	C	55902230	3	2	23	1	0	0	0	0	1	0	0	0	14063	1435	50	2	710	2	SEPT14	7	55902230	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	468350	55902230	103236433	1869	18325										
PSPH	5723	hgsc.bcm.edu	37	chr7	56088780	56088780	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctacatttctgacaccgcGtcctcaacgccacagatttt					rs75497420	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56088780G>A	ENST00000395471.3	-	4	931	c.126C>T	c.(124-126)gaC>gaT	p.D42D	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.D42D			P78330	SERB_HUMAN	phosphoserine phosphatase	42					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGACACCGCGTCCTCAACGC	0.423																																					p.D42D		Atlas-SNP	.											.	PSPH	23	.	0			c.C126T						PASS	.						153	116	129					7																	56088780		2203	4300	6503	SO:0001819	synonymous_variant	5723	exon4			CACCGCGTCCTCA	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.126C>T	7.37:g.56088780G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	275	23	0.0836364	NM_004577	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																			G|0.957;A|0.044	0.044	strong		0.423	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56088780	G	A	56088780	2	1	23	1	0	0	0	0	0	0	0	1	12717	1136	40	1		1	PSPH	7	56088780	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	186550	56088780	103049883	1870	18326	379	3								
PSPH	5723	hgsc.bcm.edu	37	chr7	56088786	56088786	+	Silent	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttctgacaccgcgtcctcAacgccacagattttggctag					rs202027697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56088786A>T	ENST00000395471.3	-	4	925	c.120T>A	c.(118-120)gtT>gtA	p.V40V	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.V40V			P78330	SERB_HUMAN	phosphoserine phosphatase	40					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGCGTCCTCAACGCCACAGA	0.423																																					p.V40V		Atlas-SNP	.											.	PSPH	23	.	0			c.T120A						PASS	.						151	116	128					7																	56088786		2203	4300	6503	SO:0001819	synonymous_variant	5723	exon4			GTCCTCAACGCCA	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.120T>A	7.37:g.56088786A>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	302	86	0.284768	NM_004577	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																			A|0.749;T|0.251	0.251	strong		0.423	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		T	56088786	A	T	56088786	2	4	23	1	0	0	0	0	0	0	0	1	12717	117	5	5		5	PSPH	7	56088786	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6	56088786	103049877	1871	18327	379	3								
PSPH	5723	hgsc.bcm.edu	37	chr7	56088789	56088789	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgacaccgcgtcctcaacGccacagattttggctagctc					rs199851385	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56088789G>A	ENST00000395471.3	-	4	922	c.117C>T	c.(115-117)ggC>ggT	p.G39G	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.G39G			P78330	SERB_HUMAN	phosphoserine phosphatase	39					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGTCCTCAACGCCACAGATTT	0.423																																					p.G39G		Atlas-SNP	.											.	PSPH	23	.	0			c.C117T						PASS	.						152	117	129					7																	56088789		2203	4300	6503	SO:0001819	synonymous_variant	5723	exon4			CTCAACGCCACAG	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.117C>T	7.37:g.56088789G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	313	90	0.28754	NM_004577	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																			G|0.750;A|0.250	0.250	strong		0.423	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56088789	G	A	56088789	2	1	23	1	0	0	0	0	0	0	0	1	12717	1074	38	1		1	PSPH	7	56088789	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3	56088789	103049874	1872	18328	379	3								
PSPH	5723	hgsc.bcm.edu	37	chr7	56088811	56088811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagattttggctagctcaTcgattccttcttctctgatg	7	11	3	2	rs78599516	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56088811T>C	ENST00000395471.3	-	4	900	c.95A>G	c.(94-96)gAt>gGt	p.D32G	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.D32G			P78330	SERB_HUMAN	phosphoserine phosphatase	32			D -> N (in PSPHD; dbSNP:rs28933976). {ECO:0000269|PubMed:14673469}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGCTAGCTCATCGATTCCTTC	0.448																																					p.D32G		Atlas-SNP	.											.	PSPH	23	.	0			c.A95G						PASS	.	T	GLY/ASP	1124,3282		0,1124,1079	142	108	120		95	4.4	1	7	dbSNP_132	120	256,8344		0,256,4044	yes	missense	PSPH	NM_004577.3	94	0,1380,5123	CC,CT,TT		2.9767,25.5107,10.6105	possibly-damaging	32/226	56088811	1380,11626	2203	4300	6503	SO:0001583	missense	5723	exon4			AGCTCATCGATTC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.95A>G	7.37:g.56088811T>C	ENSP00000378854:p.Asp32Gly	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	401	116	0.289277	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	708	0.3241758241758242	240	0.4878048780487805	97	0.26795580110497236	227	0.3968531468531469	144	0.18997361477572558	T	14.84	2.655594	0.47467	0.255107	0.029767	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-1.91;-1.91	5.6	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Phosphoserine phosphatase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.96269	3.795	0.80722	D	1	P;P	0.49185	0.92;0.846	D;D	0.65773	0.938;0.938	T	0.00000	-1.3334	10	0.87932	D	0	-27.8562	13.1471	0.59467	0.0:0.069:0.0:0.931	.	32;32	Q53EY1;P78330	.;SERB_HUMAN	G	32	ENSP00000275605:D32G;ENSP00000378854:D32G;ENSP00000398653:D32G;ENSP00000399660:D32G;ENSP00000390952:D32G	ENSP00000275605:D32G	D	-	2	0	PSPH	56056305	1.000000	0.71417	0.988000	0.46212	0.010000	0.07245	6.109000	0.71528	0.409000	0.25649	-1.431000	0.01090	GAT	T|0.746;C|0.254	0.254	strong		0.448	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		C	56088811	T	C	56088811	3	2	23	1	0	0	0	0	1	0	0	0	12717	1435	50	2	602	2	PSPH	7	56088811	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22	56088811	103049852	1873	18329										
PSPH	5723	hgsc.bcm.edu	37	chr7	56088902	56088902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcagctctgagtgggagaCcatcgctggaagaattttcc	11	11	2	3	rs77329757	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56088902C>T	ENST00000395471.3	-	4	809	c.4G>A	c.(4-6)Gtc>Atc	p.V2I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V2I			P78330	SERB_HUMAN	phosphoserine phosphatase	2				V -> I (in Ref. 1; CAA71318). {ECO:0000305}.	cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGTGGGAGACCATCGCTGGA	0.403																																					p.V2I		Atlas-SNP	.											PSPH,rectum,carcinoma,0,1	PSPH	23	1	0			c.G4A						PASS	.						59	49	53					7																	56088902		2203	4300	6503	SO:0001583	missense	5723	exon4			GGGAGACCATCGC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.4G>A	7.37:g.56088902C>T	ENSP00000378854:p.Val2Ile	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	250	50	0.2	NM_004577	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870338	0.33069	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596;ENST00000413218;ENST00000416592	D;D;D;T;T	0.82619	-1.63;-1.63;-1.63;-1.11;-1.11	5.5	4.62	0.57501	.	0.498508	0.22451	N	0.059892	T	0.76586	0.4008	L	0.43152	1.355	0.25991	N	0.982243	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.62821	-0.6773	10	0.26408	T	0.33	-18.3475	13.3091	0.60370	0.0:0.9237:0.0:0.0763	.	2;2	Q53EY1;P78330	.;SERB_HUMAN	I	2	ENSP00000275605:V2I;ENSP00000378854:V2I;ENSP00000398653:V2I;ENSP00000399660:V2I;ENSP00000390952:V2I	ENSP00000275605:V2I	V	-	1	0	PSPH	56056396	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.602000	0.36783	1.325000	0.45301	0.591000	0.81541	GTC	C|0.996;T|0.004	0.004	strong		0.403	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		T	56088902	C	T	56088902	3	4	23	1	0	0	0	0	1	0	0	0	12717	507	18	2	693	2	PSPH	7	56088902	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	91	56088902	103049761	1874	18330										
PHKG1	5260	hgsc.bcm.edu	37	chr7	56149939	56149939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggtaactgggggtcccGcagacctctgcaggaacagt	14	12	1	1	rs13238521	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:56149939G>A	ENST00000297373.2	-	7	749	c.555C>T	c.(553-555)tgC>tgT	p.C185C	PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000452681.2_Silent_p.C217C|PHKG1_ENST00000537360.1_Silent_p.C131C	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGGGTCCCGCAGACCTCTG	0.577													G|||	561	0.112021	0.0492	0.111	5008	,	,		17857	0.2282		0.0835	False		,,,				2504	0.1074				p.C217C	Melanoma(184;580 2064 5329 24177 35303)	Atlas-SNP	.											.	PHKG1	38	.	0			c.C651T						PASS	.	G		226,4180	135.7+/-171.8	6,214,1983	54	57	56		555	-4.4	1	7	dbSNP_121	56	513,8087	145.7+/-201.4	12,489,3799	no	coding-synonymous	PHKG1	NM_006213.3		18,703,5782	AA,AG,GG		5.9651,5.1294,5.682		185/388	56149939	739,12267	2203	4300	6503	SO:0001819	synonymous_variant	5260	exon8			GGTCCCGCAGACC	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.555C>T	7.37:g.56149939G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	68	44	0.647059	NM_001258459	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																			G|0.924;A|0.076	0.076	strong		0.577	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		A	56149939	G	A	56149939	2	1	23	1	0	0	0	0	0	0	0	1	11846	1079	38	1		1	PHKG1	7	56149939	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61037	56149939	102988724	1875	18331										
ZNF735	0	hgsc.bcm.edu	37	chr7	63680099	63680099	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtggcaaatcctttaacCactcctcaagcggtactaca	6	12	1	0	rs35920205|rs4320434	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:63680099C>A								GUSBP6 (69000 upstream) : ZNF679 (8752 downstream)																							ATCCTTTAACCACTCCTCAAG	0.398													.|||	1119	0.223442	0.1551	0.2205	5008	,	,		19877	0.2679		0.2565	False		,,,				2504	0.2382				p.H224N		Atlas-SNP	.											.	.	.	.	0			c.C670A						PASS	.						42	39	40					7																	63680099		692	1591	2283	SO:0001628	intergenic_variant	730291	exon4			TTTAACCACTCCT																													7.37:g.63680099C>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	196	70	0.357143	NM_001159524		Missense_Mutation	SNP		37																																																																																				C|0.813;A|0.187	0.187	strong	0	0.398									A	63680099	C	A	63680099	1	1	23	0	1	0	0	0	0	0	0	0	18121	594	21	4		4	ZNF735	7	63680099	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7530160	63680099	95458564	1876	18332										
ZNF679	168417	hgsc.bcm.edu	37	chr7	63726993	63726993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaaccctacacatgtgaaGaatgtggcaaagcctttaac	8	9	0	3	rs10949885	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:63726993G>A	ENST00000421025.1	+	5	1251	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E328K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	328				E -> K (in Ref. 2; AAH33523). {ECO:0000305}.	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(3)|lung(11)|skin(1)|stomach(1)	18						CACATGTGAAGAATGTGGCAA	0.403													.|||	511	0.102037	0.0371	0.1268	5008	,	,		21389	0.003		0.2346	False		,,,				2504	0.138				p.E328K		Atlas-SNP	.											.	ZNF679	80	.	0			c.G982A						PASS	.	G	LYS/GLU	101,1283		7,87,598	28	29	29		982	0.8	0.4	7	dbSNP_120	29	718,2464		82,554,955	no	missense	ZNF679	NM_153363.2	56	89,641,1553	AA,AG,GG		22.5644,7.2977,17.9369	probably-damaging	328/412	63726993	819,3747	692	1591	2283	SO:0001583	missense	168417	exon5			TGTGAAGAATGTG	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.982G>A	7.37:g.63726993G>A	ENSP00000416809:p.Glu328Lys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	70	45	0.642857	NM_153363		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	286	0.13095238095238096	32	0.06504065040650407	61	0.1685082872928177	0	0.0	193	0.2546174142480211	G	9.289	1.050110	0.19827	0.072977	0.225644	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.07327	3.2;3.2	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.37750	1.13	0.80722	P	0.0	D	0.76494	0.999	D	0.76071	0.987	T	0.40156	-0.9578	8	0.62326	D	0.03	.	6.9761	0.24677	0.0:0.0:1.0:0.0	rs10949885;rs17846046;rs17859037	328	Q8IYX0	ZN679_HUMAN	K	328	ENSP00000416809:E328K;ENSP00000255746:E328K	ENSP00000255746:E328K	E	+	1	0	ZNF679	63364428	0.000000	0.05858	0.427000	0.26684	0.430000	0.31655	0.163000	0.16520	0.181000	0.19994	0.184000	0.17185	GAA	G|0.853;A|0.147	0.147	strong		0.403	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63726993	G	A	63726993	3	1	23	1	0	0	0	0	1	0	0	0	18083	943	33	2	996	2	ZNF679	7	63726993	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46894	63726993	95411670	1877	18333										
ZNF679	168417	hgsc.bcm.edu	37	chr7	63727212	63727212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcttgctaatcataagagtAtgcatactggagagaaaccc	9	8	2	2	rs571908143		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:63727212A>T	ENST00000421025.1	+	5	1470	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L	ZNF679_ENST00000255746.4_Missense_Mutation_p.M401L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	401					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(3)|lung(11)|skin(1)|stomach(1)	18						TCATAAGAGTATGCATACTGG	0.333																																					p.M401L		Atlas-SNP	.											.	ZNF679	80	.	0			c.A1201T						PASS	.						25	25	25					7																	63727212		692	1591	2283	SO:0001583	missense	168417	exon5			AAGAGTATGCATA	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1201A>T	7.37:g.63727212A>T	ENSP00000416809:p.Met401Leu	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	33	0.767442	NM_153363		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598500	0.28445	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00949	5.51;5.51	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00440	0.0014	N	0.00801	-1.175	0.20196	N	0.999922	B	0.06786	0.001	B	0.09377	0.004	T	0.46952	-0.9154	9	0.72032	D	0.01	.	5.4486	0.16550	1.0:0.0:0.0:0.0	.	401	Q8IYX0	ZN679_HUMAN	L	401	ENSP00000416809:M401L;ENSP00000255746:M401L	ENSP00000255746:M401L	M	+	1	0	ZNF679	63364647	0.000000	0.05858	0.487000	0.27428	0.488000	0.33401	0.021000	0.13489	0.165000	0.19558	0.163000	0.16589	ATG	.	.	none		0.333	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		T	63727212	A	T	63727212	3	4	23	1	0	0	0	0	1	0	0	0	18083	449	16	5	1215	5	ZNF679	7	63727212	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	219	63727212	95411451	1878	18334										
ZNF107	51427	hgsc.bcm.edu	37	chr7	64166802	64166802	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacggaaaatgtgaatatgaGaatttacagttaagaaaagg	10	2	0	3	rs73138709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:64166802G>T	ENST00000395391.1	+	4	1495	c.120G>T	c.(118-120)gaG>gaT	p.E40D	ZNF107_ENST00000344930.3_Missense_Mutation_p.E40D|ZNF107_ENST00000423627.1_Missense_Mutation_p.E40D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GTGAATATGAGAATTTACAGT	0.393													g|||	88	0.0175719	0.0023	0.0375	5008	,	,		16210	0.001		0.0427	False		,,,				2504	0.0153				p.E40D		Atlas-SNP	.											.	ZNF107	107	.	0			c.G120T						PASS	.	G	ASP/GLU,ASP/GLU	35,4371		0,35,2168	76	71	73		120,120	-0.2	0	7	dbSNP_130	73	396,8204		4,388,3908	yes	missense,missense	ZNF107	NM_001013746.1,NM_016220.3	45,45	4,423,6076	TT,TG,GG		4.6047,0.7944,3.3139	benign,benign	40/784,40/784	64166802	431,12575	2203	4300	6503	SO:0001583	missense	51427	exon7			ATATGAGAATTTA	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.120G>T	7.37:g.64166802G>T	ENSP00000378789:p.Glu40Asp	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	244	143	0.586066	NM_016220		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	44	0.020146520146520148	2	0.0040650406504065045	12	0.03314917127071823	0	0.0	30	0.0395778364116095	.	4.715	0.132888	0.09032	0.007944	0.046047	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.07567	4.76;3.18;3.18;3.18	1.13	-0.162	0.13367	.	.	.	.	.	T	0.00724	0.0024	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.42120	-0.9470	9	0.41790	T	0.15	.	3.6105	0.08058	0.3231:0.0:0.6769:0.0	.	40	Q9UII5	ZN107_HUMAN	D	40	ENSP00000353234:E40D;ENSP00000343443:E40D;ENSP00000400037:E40D;ENSP00000378789:E40D	ENSP00000343443:E40D	E	+	3	2	ZNF107	63804237	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	-0.348000	0.07740	-0.264000	0.09365	0.305000	0.20034	GAG	G|0.969;T|0.031	0.031	strong		0.393	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		T	64166802	G	T	64166802	3	4	23	1	0	0	0	0	1	0	0	0	17712	933	33	4	126	4	ZNF107	7	64166802	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	439590	64166802	94971861	1879	18335										
GUSB	2990	hgsc.bcm.edu	37	chr7	65429359	65429359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaatgagctctccaaccacGtattttctgcgtttttgatc	6	11	2	2	rs1061361	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:65429359G>A	ENST00000304895.4	-	11	1870	c.1740C>T	c.(1738-1740)taC>taT	p.Y580Y	GUSB_ENST00000345660.6_Silent_p.Y529Y|GUSB_ENST00000421103.1_Silent_p.Y434Y	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	580					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCCAACCACGTATTTTCTGC	0.453													G|||	712	0.142173	0.0825	0.2147	5008	,	,		20195	0.1468		0.1064	False		,,,				2504	0.2035				p.Y580Y		Atlas-SNP	.											.	GUSB	52	.	0			c.C1740T						PASS	.	G		309,4097	168.0+/-198.9	10,289,1904	101	83	89		1740	-1.4	0.9	7	dbSNP_86	89	966,7630	207.6+/-249.3	59,848,3391	no	coding-synonymous	GUSB	NM_000181.3		69,1137,5295	AA,AG,GG		11.2378,7.0132,9.8062		580/652	65429359	1275,11727	2203	4298	6501	SO:0001819	synonymous_variant	2990	exon11			AACCACGTATTTT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1740C>T	7.37:g.65429359G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	155	93	0.6	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	CCDS5530.1																																																																																			G|1.000;|0.000	.	weak		0.453	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		A	65429359	G	A	65429359	2	1	23	1	0	0	0	0	0	0	0	1	6902	1140	40	1		1	GUSB	7	65429359	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1262557	65429359	93709304	1880	18336										
SBDS	51119	hgsc.bcm.edu	37	chr7	66453460	66453460	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attagctcatcaatttctcgGaagcagcccgggtcaatcag	9	11	5	0	rs73151675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66453460G>A	ENST00000246868.2	-	5	834	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	217					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CAATTTCTCGGAAGCAGCCCG	0.378			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				G|||	91	0.0181709	0.0038	0.0187	5008	,	,		21080	0.001		0.0626	False		,,,				2504	0.0092				p.F217F		Atlas-SNP	.	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	.	SBDS	20	.	0			c.C651T						PASS	.	G		40,4366	43.8+/-77.6	0,40,2163	104	95	98	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	651	4.2	1	7	dbSNP_130	98	472,8128	139.0+/-195.8	12,448,3840	no	coding-synonymous	SBDS	NM_016038.2		12,488,6003	AA,AG,GG		5.4884,0.9079,3.9366		217/251	66453460	512,12494	2203	4300	6503	SO:0001819	synonymous_variant	51119	exon5	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	TTCTCGGAAGCAG	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.651C>T	7.37:g.66453460G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	149	44	0.295302	NM_016038	A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	CCDS5537.1																																																																																			G|0.962;A|0.038	0.038	strong		0.378	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		A	66453460	G	A	66453460	2	1	23	1	0	0	0	0	0	0	0	1	13857	1165	41	2		2	SBDS	7	66453460	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1024101	66453460	92685203	1881	18337										
SBDS	51119	hgsc.bcm.edu	37	chr7	66459316	66459316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggtctgcagaacttcatcGaggtctttttcccttgtgag	11	9	3	2	rs113993989	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66459316G>A	ENST00000246868.2	-	2	324	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	47					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAACTTCATCGAGGTCTTTTT	0.408			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				G|||	69	0.013778	0.0136	0.0043	5008	,	,		19688	0.0337		0.006	False		,,,				2504	0.0082				p.L47L		Atlas-SNP	.	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	.	SBDS	20	.	0			c.C141T						PASS	.	G		45,4361	46.0+/-80.4	0,45,2158	107	98	101	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	141	-5.8	0.9	7	dbSNP_132	101	33,8567	21.0+/-64.5	0,33,4267	no	coding-synonymous	SBDS	NM_016038.2		0,78,6425	AA,AG,GG		0.3837,1.0213,0.5997		47/251	66459316	78,12928	2203	4300	6503	SO:0001819	synonymous_variant	51119	exon2	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	TTCATCGAGGTCT	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.141C>T	7.37:g.66459316G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	88	33	0.375	NM_016038	A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	CCDS5537.1																																																																																			G|0.989;A|0.011	0.011	strong		0.408	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		A	66459316	G	A	66459316	2	1	23	1	0	0	0	0	0	0	0	1	13857	1045	37	1		1	SBDS	7	66459316	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5856	66459316	92679347	1882	18338										
TYW1	55253	hgsc.bcm.edu	37	chr7	66648157	66648157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgctcgtgaaagcatggaaCgtggacgagctccaggccta	13	11	0	1	rs4145350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66648157C>T	ENST00000359626.5	+	14	1907	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	581					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAGCATGGAACGTGGACGAGC	0.527																																					p.N581N		Atlas-SNP	.											.	TYW1	71	.	0			c.C1743T						PASS	.	C		1517,2889		140,1237,826	93	69	77		1743	-4.6	1	7	dbSNP_110	77	2010,6590		167,1676,2457	no	coding-synonymous	TYW1	NM_018264.2		307,2913,3283	TT,TC,CC		23.3721,34.4303,27.1183		581/733	66648157	3527,9479	2203	4300	6503	SO:0001819	synonymous_variant	55253	exon14			ATGGAACGTGGAC	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1743C>T	7.37:g.66648157C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	128	82	0.640625	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			C|0.778;T|0.222	0.222	strong		0.527	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66648157	C	T	66648157	2	4	23	1	0	0	0	0	0	0	0	1	16815	535	19	1		1	TYW1	7	66648157	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	188841	66648157	92490506	1883	18339										
TYW1	55253	hgsc.bcm.edu	37	chr7	66648199	66648199	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcagctcgtgtccctgggGaatcctgacttcatcgaagt	12	12	1	1	rs55756354	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66648199G>A	ENST00000359626.5	+	14	1949	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	595					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCCCTGGGGAATCCTGACT	0.537																																					p.G595G		Atlas-SNP	.											.	TYW1	71	.	0			c.G1785A						PASS	.	G		1246,3160		124,998,1081	59	45	50		1785	0.6	0.1	7	dbSNP_129	50	1785,6805		158,1469,2668	no	coding-synonymous	TYW1	NM_018264.2		282,2467,3749	AA,AG,GG		20.78,28.2796,23.3226		595/733	66648199	3031,9965	2203	4295	6498	SO:0001819	synonymous_variant	55253	exon14			CCTGGGGAATCCT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1785G>A	7.37:g.66648199G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	123	70	0.569106	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			.	.	weak		0.537	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66648199	G	A	66648199	2	1	23	1	0	0	0	0	0	0	0	1	16815	1161	41	2		2	TYW1	7	66648199	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	42	66648199	92490464	1884	18340										
TYW1	55253	hgsc.bcm.edu	37	chr7	66660242	66660242	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagtggtacagtttgtccAcgagttggtggatctgatcc					rs2949097		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66660242A>G	ENST00000359626.5	+	15	2059	c.1895A>G	c.(1894-1896)cAc>cGc	p.H632R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	632			H -> R (in dbSNP:rs2949097). {ECO:0000269|PubMed:14702039}.		tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.H632R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGTTTGTCCACGAGTTGGTG	0.473																																					p.H632R		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - Missense(1)	stomach(1)	c.A1895G						scavenged	.						143	147	146					7																	66660242		2201	4298	6499	SO:0001583	missense	55253	exon15			TTGTCCACGAGTT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1895A>G	7.37:g.66660242A>G	ENSP00000352645:p.His632Arg	Somatic	229	1	0.00436681		WXS	Illumina HiSeq	Phase_I	194	57	0.293814	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	423	0.1936813186813187	166	0.33739837398373984	76	0.20994475138121546	42	0.07342657342657342	139	0.18337730870712401	G	0.041	-1.284326	0.01398	.	.	ENSG00000198874	ENST00000359626	T	0.39592	1.07	3.7	-1.73	0.08081	tRNA wybutosine-synthesis (1);	0.536026	0.18649	N	0.135065	T	0.00012	0.0000	N	0.00332	-1.63	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46176	-0.9210	9	0.22706	T	0.39	.	10.5776	0.45235	0.6569:0.0:0.3431:0.0	rs2949097;rs3210780	632	Q9NV66	TYW1_HUMAN	R	632	ENSP00000352645:H632R	ENSP00000352645:H632R	H	+	2	0	TYW1	66297677	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.026000	0.13599	-0.771000	0.04608	-1.185000	0.01705	CAC	A|0.500;G|0.500	0.500	weak		0.473	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		G	66660242	A	G	66660242	3	3	23	1	0	0	0	0	1	0	0	0	16815	159	6	2	1953	2	TYW1	7	66660242	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12043	66660242	92478421	1885	18341	380	2								
TYW1	55253	hgsc.bcm.edu	37	chr7	66660247	66660247	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtacagtttgtccacgagTtggtggatctgatccccgaa					rs55673383		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:66660247T>C	ENST00000359626.5	+	15	2064	c.1900T>C	c.(1900-1902)Ttg>Ctg	p.L634L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	634					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L634L(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCCACGAGTTGGTGGATCT	0.478																																					p.L634L		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - coding silent(1)	stomach(1)	c.T1900C						scavenged	.						147	152	150					7																	66660247		2203	4299	6502	SO:0001819	synonymous_variant	55253	exon15			CACGAGTTGGTGG	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1900T>C	7.37:g.66660247T>C		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	185	56	0.302703	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			T|0.500;C|0.500	0.500	weak		0.478	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		C	66660247	T	C	66660247	2	2	23	1	0	0	0	0	0	0	0	1	16815	1722	60	2		2	TYW1	7	66660247	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5	66660247	92478416	1886	18342	380	2								
AUTS2	26053	hgsc.bcm.edu	37	chr7	70255576	70255577	+	In_Frame_Ins	INS	-	-	CCA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggagcctcacgactacagINSccaccaccaccaccaccacc					rs538005366|rs35604576|rs375018695		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:70255576_70255577insCCA	ENST00000342771.4	+	19	3695_3696	c.3374_3375insCCA	c.(3373-3378)agccac>agCCAccac	p.1133_1134insH	AUTS2_ENST00000406775.2_In_Frame_Ins_p.1109_1110insH	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1133	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACGACTACAGccaccaccacc	0.678																																					p.S1125delinsSH		Pindel,Atlas-Indel	.											.	AUTS2	173	.	0			c.3374_3375insCCA						PASS	.																																			SO:0001652	inframe_insertion	26053	exon19			.	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3396_3398dupCCA	7.37:g.70255583_70255585dupCCA	ENSP00000344087:p.His1133_His1133dup	Somatic	55	.	.		WXS	Illumina HiSeq	Phase_I	71	13	0.183	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	In_Frame_Ins	INS	ENST00000342771.4	37	CCDS5539.1																																																																																			.	.	none		0.678	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			CCA	70255577	-	CCA	70255576	7	5	23	1	0	1	1	0	0	0	0	0	1225	971	34	0	3593	0	AUTS2	7	70255576	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	3595329	70255576	88883087	1887	18343										
POM121	9883	hgsc.bcm.edu	37	chr7	72413874	72413874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgggagctttgggatcaaTgtggccaccccaggctccag	14	11	1	0	rs199633193	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:72413874T>C	ENST00000434423.2	+	11	3342	c.3342T>C	c.(3340-3342)aaT>aaC	p.N1114N	POM121_ENST00000395270.1_Silent_p.N849N|POM121_ENST00000358357.3_Silent_p.N849N|POM121_ENST00000257622.4_Silent_p.N849N|POM121_ENST00000446813.1_Silent_p.N849N			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1114	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGGGATCAATGTGGCCACCC	0.642																																					p.N849N		Atlas-SNP	.											POM121_ENST00000395270,bladder,carcinoma,+1,2	POM121	131	2	0			c.T2547C						scavenged	.						28	23	24					7																	72413874		2164	4162	6326	SO:0001819	synonymous_variant	9883	exon11			GATCAATGTGGCC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3342T>C	7.37:g.72413874T>C		Somatic	492	6	0.0121951		WXS	Illumina HiSeq	Phase_I	360	148	0.411111	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37																																																																																				T|0.500;C|0.500	0.500	weak		0.642	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			C	72413874	T	C	72413874	2	2	23	1	0	0	0	0	0	0	0	1	12239	1461	51	2		2	POM121	7	72413874	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2158298	72413874	86724789	1888	18344										
GTF2IRD1	9569	hgsc.bcm.edu	37	chr7	73932560	73932560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgtgcaggggctgcccgaAggcctggccttccgaaggcc	16	15	0	0	rs17851629	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:73932560A>G	ENST00000265755.3	+	5	906	c.513A>G	c.(511-513)gaA>gaG	p.E171E	GTF2IRD1_ENST00000455841.2_Silent_p.E203E|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.E171E|GTF2IRD1_ENST00000476977.1_Silent_p.E171E	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	171					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGCCCGAAGGCCTGGCCT	0.662													G|||	1186	0.236821	0.4682	0.196	5008	,	,		14985	0.0952		0.16	False		,,,				2504	0.1779				p.E203E		Atlas-SNP	.											.	GTF2IRD1	91	.	0			c.A609G						PASS	.	G	,,	1791,2611		358,1075,768	24	24	24		609,513,513	1.6	1	7	dbSNP_123	24	1707,6893		165,1377,2758	no	coding-synonymous,coding-synonymous,coding-synonymous	GTF2IRD1	NM_001199207.1,NM_005685.3,NM_016328.2	,,	523,2452,3526	GG,GA,AA		19.8488,40.6861,26.9036	,,	203/977,171/945,171/960	73932560	3498,9504	2201	4300	6501	SO:0001819	synonymous_variant	9569	exon5			GCCCGAAGGCCTG	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.513A>G	7.37:g.73932560A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	306	71	0.232026	NM_001199207	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	CCDS5571.1																																																																																			A|0.744;G|0.256	0.256	strong		0.662	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		G	73932560	A	G	73932560	2	3	23	1	0	0	0	0	0	0	0	1	6868	69	3	3		3	GTF2IRD1	7	73932560	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1518686	73932560	85206103	1889	18345										
POM121C	100101267	hgsc.bcm.edu	37	chr7	75051375	75051375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaagctgggggtaagggcTggcttggcggcccccggtgg	19	11	0	0	rs398016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:75051375T>C	ENST00000257665.5	-	11	2885	c.2886A>G	c.(2884-2886)ccA>ccG	p.P962P	POM121C_ENST00000453279.2_Silent_p.P720P|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	962	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGTAAGGGCTGGCTTGGCGG	0.657													.|||	1448	0.289137	0.152	0.3069	5008	,	,		11153	0.2589		0.4702	False		,,,				2504	0.3067				p.P720P		Atlas-SNP	.											POM121C,NS,carcinoma,0,1	POM121C	46	1	0			c.A2160G						scavenged	.	C		682,3536		76,530,1503	10	13	12		2160	-6	0	7	dbSNP_80	12	3609,4787		853,1903,1442	no	coding-synonymous	POM121C	NM_001099415.1		929,2433,2945	CC,CT,TT		42.9848,16.1688,34.0178		720/988	75051375	4291,8323	2109	4198	6307	SO:0001819	synonymous_variant	100101267	exon13			AAGGGCTGGCTTG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2886A>G	7.37:g.75051375T>C		Somatic	222	12	0.0540541		WXS	Illumina HiSeq	Phase_I	200	178	0.89	NM_001099415	O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37																																																																																				T|0.701;C|0.299	0.299	strong		0.657	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		C	75051375	T	C	75051375	2	2	23	1	0	0	0	0	0	0	0	1	12240	1567	55	3		3	POM121C	7	75051375	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1118815	75051375	84087288	1890	18346										
HIP1	3092	hgsc.bcm.edu	37	chr7	75171262	75171262	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatccatctcttggcgtttGatctgtgtcagcgtcatgct	10	10	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:75171262G>A	ENST00000336926.6	-	29	2954	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	HIP1_ENST00000434438.2_Silent_p.I925I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	976	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTGGCGTTTGATCTGTGTCA	0.463			T	PDGFRB	CMML																																p.I976I		Atlas-SNP	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	HIP1,NS,carcinoma,-2,1	HIP1	91	1	0			c.C2928T						PASS	.						180	162	168					7																	75171262		2203	4300	6503	SO:0001819	synonymous_variant	3092	exon29			GCGTTTGATCTGT	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2928C>T	7.37:g.75171262G>A		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	317	72	0.227129	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																			.	.	none		0.463	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		A	75171262	G	A	75171262	2	1	23	1	0	0	0	0	0	0	0	1	7114	1280	45	2		2	HIP1	7	75171262	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	119887	75171262	83967401	1891	18347										
CCL24	6369	hgsc.bcm.edu	37	chr7	75442730	75442730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgcagcagggagaggggaTgaccacagagcctagaagag	16	8	0	5	rs2302006	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:75442730T>G	ENST00000416943.1	-	3	178	c.85A>C	c.(85-87)Atc>Ctc	p.I29L	CCL24_ENST00000222902.2_Missense_Mutation_p.I29L	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	29			I -> L (in dbSNP:rs2302006). {ECO:0000269|PubMed:14702039}.		cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GGAGAGGGGATGACCACAGAG	0.562													T|||	1733	0.346046	0.2685	0.4063	5008	,	,		17705	0.5595		0.1839	False		,,,				2504	0.3548				p.I29L		Atlas-SNP	.											.	CCL24	11	.	0			c.A85C						PASS	.	T	LEU/ILE	1230,3176		173,884,1146	69	72	71		85	-0.4	0	7	dbSNP_100	71	1725,6875		170,1385,2745	yes	missense	CCL24	NM_002991.2	5	343,2269,3891	GG,GT,TT		20.0581,27.9165,22.7203	benign	29/120	75442730	2955,10051	2203	4300	6503	SO:0001583	missense	6369	exon2			AGGGGATGACCAC	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.85A>C	7.37:g.75442730T>G	ENSP00000400533:p.Ile29Leu	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	59	36	0.610169	NM_002991	B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	CCDS34670.1	739	0.3383699633699634	141	0.2865853658536585	125	0.3453038674033149	325	0.5681818181818182	148	0.19525065963060687	.	6.304	0.424243	0.11928	0.279165	0.200581	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03689	3.84;3.84	3.61	-0.408	0.12381	Chemokine interleukin-8-like domain (1);	1.308000	0.05150	N	0.495911	T	0.00012	0.0000	L	0.37800	1.135	0.80722	P	0.0	B	0.11235	0.004	B	0.14023	0.01	T	0.35895	-0.9770	9	0.16420	T	0.52	.	9.5265	0.39167	0.0:0.0:0.5652:0.4348	rs2302006;rs11465292;rs60968338;rs2302006	29	O00175	CCL24_HUMAN	L	29	ENSP00000222902:I29L;ENSP00000400533:I29L	ENSP00000222902:I29L	I	-	1	0	CCL24	75280666	0.696000	0.27757	0.004000	0.12327	0.004000	0.04260	0.260000	0.18424	-0.058000	0.13177	-0.291000	0.09656	ATC	T|0.714;G|0.286	0.286	strong		0.562	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		G	75442730	T	G	75442730	3	3	23	1	0	0	0	0	1	0	0	0	2896	1464	51	5	280	5	CCL24	7	75442730	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	271468	75442730	83695933	1892	18348										
MDH2	4191	hgsc.bcm.edu	37	chr7	75695613	75695613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaaaaagggcatcgagaAgaacctgggcatcggcaaag	13	8	1	3	rs10256	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:75695613A>G	ENST00000315758.5	+	9	996	c.902A>G	c.(901-903)aAg>aGg	p.K301R	MDH2_ENST00000432020.2_Missense_Mutation_p.K259R|MDH2_ENST00000443006.1_Missense_Mutation_p.K194R	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	301				K -> R (in Ref. 2; BAG56955). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GGCATCGAGAAGAACCTGGGC	0.507													a|||	103	0.0205671	0.0008	0.0375	5008	,	,		19541	0.0		0.0517	False		,,,				2504	0.0245				p.K301R		Atlas-SNP	.											.	MDH2	35	.	0			c.A902G						PASS	.	A	ARG/LYS	52,4354	52.3+/-87.9	0,52,2151	74	72	73		902	5.4	1	7	dbSNP_52	73	416,8184	129.5+/-187.6	9,398,3893	yes	missense	MDH2	NM_005918.2	26	9,450,6044	GG,GA,AA		4.8372,1.1802,3.5983	benign	301/339	75695613	468,12538	2203	4300	6503	SO:0001583	missense	4191	exon9			TCGAGAAGAACCT		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.902A>G	7.37:g.75695613A>G	ENSP00000327070:p.Lys301Arg	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	44	0.571429	NM_005918	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	50	0.022893772893772892	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	36	0.047493403693931395	A	13.61	2.287440	0.40494	0.011802	0.048372	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.68479	-0.33;-0.33;-0.33	5.41	5.41	0.78517	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	L	0.56199	1.76	0.80722	D	1	B;B	0.31581	0.329;0.024	B;B	0.40375	0.327;0.078	T	0.58222	-0.7674	10	0.59425	D	0.04	-13.4249	14.6204	0.68579	1.0:0.0:0.0:0.0	rs10256;rs1133136;rs3178297;rs3194633;rs17350089;rs3178297	259;301	E9PDB2;P40926	.;MDHM_HUMAN	R	301;194;259	ENSP00000327070:K301R;ENSP00000416929:K194R;ENSP00000408649:K259R	ENSP00000327070:K301R	K	+	2	0	MDH2	75533549	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	7.535000	0.82014	2.050000	0.60909	0.533000	0.62120	AAG	A|0.969;G|0.031	0.031	strong		0.507	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			G	75695613	A	G	75695613	3	3	23	1	0	0	0	0	1	0	0	0	9410	72	3	3	936	3	MDH2	7	75695613	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	252883	75695613	83443050	1893	18349										
ZP3	7784	hgsc.bcm.edu	37	chr7	76069811	76069811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggttcccagtggaaggcTcggctgacatctgtcaatgc	13	11	2	1	rs2906999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76069811T>C	ENST00000394857.3	+	7	1001	c.943T>C	c.(943-945)Tcg>Ccg	p.S315P	ZP3_ENST00000336517.4_Missense_Mutation_p.S264P|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000416245.1_Missense_Mutation_p.S139P	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	315			S -> P (in dbSNP:rs2906999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1478648, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2385582}.		binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGTGGAAGGCTCGGCTGACAT	0.493													C|||	2960	0.591054	0.6558	0.5908	5008	,	,		21316	0.5427		0.5209	False		,,,				2504	0.6258				p.S315P		Atlas-SNP	.											.	ZP3	32	.	0			c.T943C						PASS	.	C	PRO/SER,PRO/SER	2642,1764		883,876,444	87	95	92		943,790	-7.7	0	7	dbSNP_101	92	4353,4247		1072,2209,1019	no	missense,missense	ZP3	NM_001110354.1,NM_007155.5	74,74	1955,3085,1463	CC,CT,TT		49.3837,40.0363,46.2171	benign,benign	315/425,264/374	76069811	6995,6011	2203	4300	6503	SO:0001583	missense	7784	exon7			GAAGGCTCGGCTG	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.943T>C	7.37:g.76069811T>C	ENSP00000378326:p.Ser315Pro	Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	288	182	0.631944	NM_001110354	Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	1102	0.5045787545787546	290	0.5894308943089431	189	0.5220994475138122	273	0.4772727272727273	350	0.46174142480211083	N	0.087	-1.174174	0.01646	0.599637	0.506163	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	T;T;T	0.22336	2.54;2.77;1.96	4.96	-7.74	0.01241	.	1.184840	0.06001	N	0.647710	T	0.00012	0.0000	N	0.01431	-0.87	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	9	0.06099	T	0.92	0.1283	1.1308	0.01745	0.3458:0.3118:0.1128:0.2297	rs2906999;rs2906999	264;315	P21754-3;P21754	.;ZP3_HUMAN	P	264;315;315;139	ENSP00000337310:S264P;ENSP00000378326:S315P;ENSP00000411955:S139P	ENSP00000337310:S264P	S	+	1	0	ZP3	75907747	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.059000	0.03479	-2.339000	0.00626	-1.329000	0.01275	TCG	T|0.444;C|0.556	0.556	strong		0.493	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			C	76069811	T	C	76069811	3	2	23	1	0	0	0	0	1	0	0	0	18214	1551	54	3	969	3	ZP3	7	76069811	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	374198	76069811	83068852	1894	18350			10	79		4	3	92	N	T_G_A	9.718717e-05
ZP3	7784	hgsc.bcm.edu	37	chr7	76069881	76069881	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccattccaggaggcagcctcAtgtcatgagccagtggtcca					rs2906998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76069881A>G	ENST00000394857.3	+	7	1071	c.1013A>G	c.(1012-1014)cAt>cGt	p.H338R	ZP3_ENST00000336517.4_Missense_Mutation_p.H287R|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000416245.1_Missense_Mutation_p.H162R	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	338					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGGCAGCCTCATGTCATGAGC	0.537																																					p.H338R		Atlas-SNP	.											.	ZP3	32	.	0			c.A1013G						PASS	.						132	128	130					7																	76069881		2203	4300	6503	SO:0001583	missense	7784	exon7			AGCCTCATGTCAT	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1013A>G	7.37:g.76069881A>G	ENSP00000378326:p.His338Arg	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	335	31	0.0925373	NM_001110354	Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.044|9.044	0.990333|0.990333	0.18966|0.18966	.|.	.|.	ENSG00000188372|ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245|ENST00000394860	T;T;T|.	0.21031|.	2.61;2.82;2.03|.	4.68|4.68	-7.24|-7.24	0.01475|0.01475	.|.	1.306680|.	0.05708|.	N|.	0.595475|.	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.001|.	B;B|.	0.13407|.	0.009;0.001|.	T|T	0.38908|0.38908	-0.9639|-0.9639	10|5	0.23891|.	T|.	0.37|.	2.8954|2.8954	3.3471|3.3471	0.07139|0.07139	0.1819:0.4453:0.2607:0.1121|0.1819:0.4453:0.2607:0.1121	rs2906998|rs2906998	287;338|.	P21754-3;P21754|.	.;ZP3_HUMAN|.	R|V	287;338;338;162|172	ENSP00000337310:H287R;ENSP00000378326:H338R;ENSP00000411955:H162R|.	ENSP00000337310:H287R|.	H|M	+|+	2|1	0|0	ZP3|ZP3	75907817|75907817	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-1.122000|-1.122000	0.03267|0.03267	-1.144000|-1.144000	0.02862|0.02862	0.459000|0.459000	0.35465|0.35465	CAT|ATG	A|0.885;G|0.115	0.115	strong		0.537	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			G	76069881	A	G	76069881	3	3	23	1	0	0	0	0	1	0	0	0	18214	217	8	2	1039	2	ZP3	7	76069881	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	70	76069881	83068782	1895	18351	381	2	10	79		4	3	92	N	T_G_A	9.718717e-05
ZP3	7784	hgsc.bcm.edu	37	chr7	76069886	76069886	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggaggcagcctcatgtcAtgagccagtggtccaggtct					rs2906997	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76069886A>G	ENST00000394857.3	+	7	1076	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	ZP3_ENST00000336517.4_Missense_Mutation_p.M289V|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000416245.1_Missense_Mutation_p.M164V	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	340			M -> V (in dbSNP:rs2906997).		binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCTCATGTCATGAGCCAGTG	0.542																																					p.M340V		Atlas-SNP	.											.	ZP3	32	.	0			c.A1018G						PASS	.						134	129	131					7																	76069886		2203	4300	6503	SO:0001583	missense	7784	exon7			CATGTCATGAGCC	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1018A>G	7.37:g.76069886A>G	ENSP00000378326:p.Met340Val	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	342	32	0.0935673	NM_001110354	Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	N	2.901	-0.227591	0.06022	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	T;T;T	0.20463	2.66;2.88;2.07	4.27	-5.46	0.02608	.	2.545950	0.01889	N	0.038399	T	0.04952	0.0133	N	0.00483	-1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	10	0.29301	T	0.29	1.7081	2.1536	0.03806	0.4579:0.2402:0.1865:0.1154	rs2906997;rs2906997	289;340	P21754-3;P21754	.;ZP3_HUMAN	V	289;340;340;164	ENSP00000337310:M289V;ENSP00000378326:M340V;ENSP00000411955:M164V	ENSP00000337310:M289V	M	+	1	0	ZP3	75907822	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.029000	0.01430	-1.516000	0.01782	-1.163000	0.01768	ATG	A|0.912;G|0.088	0.088	strong		0.542	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			G	76069886	A	G	76069886	3	3	23	1	0	0	0	0	1	0	0	0	18214	217	8	2	1044	2	ZP3	7	76069886	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5	76069886	83068777	1896	18352	381	2	10	79		4	3	92	N	T_G_A	9.718717e-05
ZP3	7784	hgsc.bcm.edu	37	chr7	76069902	76069902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcatgagccagtggtccaGgtctgcttcccgtaaccgca	11	13	2	1	rs1804905		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76069902G>C	ENST00000394857.3	+	7	1092	c.1034G>C	c.(1033-1035)aGg>aCg	p.R345T	ZP3_ENST00000336517.4_Missense_Mutation_p.R294T|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000416245.1_Missense_Mutation_p.R169T	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	345				R -> T (in Ref. 2; CAA40095). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CAGTGGTCCAGGTCTGCTTCC	0.537																																					p.R345T		Atlas-SNP	.											.	ZP3	32	.	0			c.G1034C						PASS	.						135	127	130					7																	76069902		2203	4300	6503	SO:0001583	missense	7784	exon7			GGTCCAGGTCTGC	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1034G>C	7.37:g.76069902G>C	ENSP00000378326:p.Arg345Thr	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	350	42	0.12	NM_001110354	Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.608|8.608	0.888351|0.888351	0.17540|0.17540	.|.	.|.	ENSG00000188372|ENSG00000188372	ENST00000394860|ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	.|T;T;T	.|0.25250	.|2.41;2.63;1.81	4.64|4.64	-8.56|-8.56	0.00904|0.00904	.|.	.|0.754812	.|0.12103	.|U	.|0.499355	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.28115|0.28115	0.83|0.83	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19817	.|0.002;0.039	.|B;B	.|0.17722	.|0.004;0.019	T|T	0.33292|0.33292	-0.9874|-0.9874	5|10	.|0.13108	.|T	.|0.6	-0.2921|-0.2921	12.2107|12.2107	0.54377|0.54377	0.1994:0.1279:0.6727:0.0|0.1994:0.1279:0.6727:0.0	rs1804905|rs1804905	.|294;345	.|P21754-3;P21754	.|.;ZP3_HUMAN	R|T	179|294;345;345;169	.|ENSP00000337310:R294T;ENSP00000378326:R345T;ENSP00000411955:R169T	.|ENSP00000337310:R294T	G|R	+|+	1|2	0|0	ZP3|ZP3	75907838|75907838	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.592000|-0.592000	0.05747|0.05747	-1.616000|-1.616000	0.01572|0.01572	-0.291000|-0.291000	0.09656|0.09656	GGT|AGG	G|0.500;C|0.500	0.500	weak		0.537	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			C	76069902	G	C	76069902	3	2	23	1	0	0	0	0	1	0	0	0	18214	1000	35	4	1060	4	ZP3	7	76069902	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16	76069902	83068761	1897	18353			10	79		4	3	92	N	T_G_A	9.718717e-05
CCDC146	57639	hgsc.bcm.edu	37	chr7	76916819	76916819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggatttcatctatgagcaGgtctccaggctcacagacag	10	10	4	2	rs3763402	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76916819G>A	ENST00000285871.4	+	17	2467	c.2340G>A	c.(2338-2340)caG>caA	p.Q780Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.Q494Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	780										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTATGAGCAGGTCTCCAGGC	0.483													G|||	1142	0.228035	0.4115	0.1225	5008	,	,		18042	0.0923		0.173	False		,,,				2504	0.2515				p.Q780Q		Atlas-SNP	.											.	CCDC146	87	.	0			c.G2340A						PASS	.	G		1605,2801	496.7+/-363.6	299,1007,897	77	76	76		2340	3.4	1	7	dbSNP_107	76	1598,7002	296.3+/-302.9	144,1310,2846	no	coding-synonymous	CCDC146	NM_020879.2		443,2317,3743	AA,AG,GG		18.5814,36.4276,24.6271		780/956	76916819	3203,9803	2203	4300	6503	SO:0001819	synonymous_variant	57639	exon17			TGAGCAGGTCTCC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2340G>A	7.37:g.76916819G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	336	334	0.994048	NM_020879	A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																			G|0.769;A|0.231	0.231	strong		0.483	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		A	76916819	G	A	76916819	2	1	23	1	0	0	0	0	0	0	0	1	2780	991	35	2		2	CCDC146	7	76916819	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	846917	76916819	82221844	1898	18354										
PION	54103	hgsc.bcm.edu	37	chr7	76984961	76984961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaagtaaacagccacataaTagtctatagaagagaaagat	8	5	1	3	rs375426636		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76984961T>C	ENST00000257626.7	-	15	1109	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	344					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										AGCCACATAATAGTCTATAGA	0.393																																					p.Y344C		Atlas-SNP	.											.	PION	74	.	0			c.A1031G						PASS	.						95	98	97					7																	76984961		2203	4300	6503	SO:0001583	missense	54103	exon15			ACATAATAGTCTA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1031A>G	7.37:g.76984961T>C	ENSP00000257626:p.Tyr344Cys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	163	106	0.650307	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734928	0.30774	.	.	ENSG00000186088	ENST00000257626	T	0.19669	2.13	5.87	1.96	0.26148	.	0.000000	0.64402	U	0.000007	T	0.18964	0.0455	M	0.69823	2.125	0.80722	D	1	B;B	0.29508	0.246;0.119	B;B	0.28139	0.086;0.048	T	0.03739	-1.1008	9	.	.	.	.	4.7934	0.13259	0.1393:0.1571:0.0:0.7037	.	344;344	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	C	344	ENSP00000257626:Y344C	.	Y	-	2	0	PION	76822897	0.986000	0.35501	0.774000	0.31636	0.613000	0.37349	0.377000	0.20552	1.056000	0.40484	0.533000	0.62120	TAT	.	.	weak		0.393	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		C	76984961	T	C	76984961	3	2	23	1	0	0	0	0	1	0	0	0	11934	1406	49	2	1601	2	PION	7	76984961	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	68142	76984961	82153702	1899	18355										
PION	54103	hgsc.bcm.edu	37	chr7	76990178	76990178	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccctttgtcatgtgtgaCccaacattctcaagagaagt	8	10	2	2	rs4727366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76990178C>G	ENST00000257626.7	-	14	1068	c.990G>C	c.(988-990)ggG>ggC	p.G330G		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	330					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TCATGTGTGACCCAACATTCT	0.458													G|||	1512	0.301917	0.5461	0.219	5008	,	,		22232	0.0873		0.2326	False		,,,				2504	0.3231				p.G330G		Atlas-SNP	.											PION,caecum,carcinoma,0,1	PION	74	1	0			c.G990C						PASS	.	G		2185,2221	590.3+/-387.3	546,1093,564	227	187	200		990	2.1	0.1	7	dbSNP_111	200	2174,6426	712.8+/-405.9	261,1652,2387	no	coding-synonymous	PION	NM_017439.3		807,2745,2951	GG,GC,CC		25.2791,49.5915,33.5153		330/855	76990178	4359,8647	2203	4300	6503	SO:0001819	synonymous_variant	54103	exon14			GTGTGACCCAACA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.990G>C	7.37:g.76990178C>G		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	242	81	0.334711	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																			C|0.688;G|0.312	0.312	strong		0.458	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		G	76990178	C	G	76990178	2	3	23	1	0	0	0	0	0	0	0	1	11934	494	18	4		4	PION	7	76990178	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5217	76990178	82148485	1900	18356										
PION	54103	hgsc.bcm.edu	37	chr7	76991935	76991935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acactgaatatgtgatttgtCcccaagaggcacacttcggg	10	10	0	3	rs1527263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:76991935C>T	ENST00000257626.7	-	13	992	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	305			G -> E (in dbSNP:rs1527263).		positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TGTGATTTGTCCCCAAGAGGC	0.303													T|||	1512	0.301917	0.5454	0.219	5008	,	,		21657	0.0883		0.2326	False		,,,				2504	0.3231				p.G305E		Atlas-SNP	.											PION,colon,carcinoma,+1,4	PION	74	4	0			c.G914A						PASS	.	T	GLU/GLY	2189,2217	589.8+/-387.2	548,1093,562	98	100	100		914	4.5	0.9	7	dbSNP_88	100	2170,6430	712.4+/-405.9	260,1650,2390	yes	missense	PION	NM_017439.3	98	808,2743,2952	TT,TC,CC		25.2326,49.6823,33.5153	benign	305/855	76991935	4359,8647	2203	4300	6503	SO:0001583	missense	54103	exon13			ATTTGTCCCCAAG		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.914G>A	7.37:g.76991935C>T	ENSP00000257626:p.Gly305Glu	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	238	71	0.298319	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	615	0.2815934065934066	288	0.5853658536585366	92	0.2541436464088398	52	0.09090909090909091	183	0.24142480211081793	T	0.009	-1.815517	0.00600	0.496823	0.252326	ENSG00000186088	ENST00000257626	T	0.15372	2.43	5.72	4.5	0.54988	.	0.533626	0.16507	N	0.211404	T	0.00012	0.0000	N	0.00926	-1.1	0.53688	P	2.5000000000052758E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43540	-0.9385	9	0.02654	T	1	.	5.7871	0.18338	0.1477:0.0807:0.0:0.7717	rs1527263;rs57606158;rs1527263	305;305	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	E	305	ENSP00000257626:G305E	ENSP00000257626:G305E	G	-	2	0	PION	76829871	0.005000	0.15991	0.947000	0.38551	0.060000	0.15804	1.184000	0.32053	0.999000	0.39023	-0.524000	0.04348	GGA	C|0.675;N|0.000	.	strong		0.303	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		T	76991935	C	T	76991935	3	4	23	1	0	0	0	0	1	0	0	0	11934	855	30	2	1726	2	PION	7	76991935	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1757	76991935	82146728	1901	18357										
PHTF2	57157	hgsc.bcm.edu	37	chr7	77569559	77569559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataataagttttgtggttcgCgtgtctcttgtgtggatttt	11	4	1	0	rs1064040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:77569559C>T	ENST00000248550.7	+	13	1756	c.1680C>T	c.(1678-1680)cgC>cgT	p.R560R	PHTF2_ENST00000424760.1_Silent_p.R522R|PHTF2_ENST00000307305.8_Silent_p.R522R|PHTF2_ENST00000416283.2_Silent_p.R526R|PHTF2_ENST00000275575.7_Silent_p.R522R|PHTF2_ENST00000422959.2_Silent_p.R526R			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTGTGGTTCGCGTGTCTCTTG	0.343													C|||	80	0.0159744	0.0098	0.0317	5008	,	,		15147	0.001		0.0298	False		,,,				2504	0.0143				p.R526R		Atlas-SNP	.											.	PHTF2	104	.	0			c.C1578T						PASS	.	C	,,	53,3615		0,53,1781	169	155	159		1578,1566,1566	-1.6	1	7	dbSNP_86	159	272,7908		3,266,3821	no	coding-synonymous,coding-synonymous,coding-synonymous	PHTF2	NM_001127357.1,NM_001127358.1,NM_020432.4	,,	3,319,5602	TT,TC,CC		3.3252,1.4449,2.7431	,,	526/752,522/748,522/748	77569559	325,11523	1834	4090	5924	SO:0001819	synonymous_variant	57157	exon12			GGTTCGCGTGTCT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1680C>T	7.37:g.77569559C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	178	55	0.308989	NM_001127357	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																				C|0.980;T|0.020	0.020	strong		0.343	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		T	77569559	C	T	77569559	2	4	23	1	0	0	0	0	0	0	0	1	11863	755	27	1		1	PHTF2	7	77569559	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	577624	77569559	81569104	1902	18358										
MAGI2	9863	hgsc.bcm.edu	37	chr7	78119109	78119109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactcttctggaggtttagcCtttttcgcaagtcgtggatc	10	10	2	0	rs3735442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:78119109C>T	ENST00000354212.4	-	6	1267	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	MAGI2_ENST00000419488.1_Silent_p.K338K|MAGI2_ENST00000536571.1_Silent_p.K170K|MAGI2_ENST00000522391.1_Silent_p.K338K|MAGI2_ENST00000535697.1_Silent_p.K175K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	338	Interaction with DDN.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGTTTAGCCTTTTTCGCAA	0.373													C|||	1618	0.323083	0.4864	0.2334	5008	,	,		20046	0.2321		0.2952	False		,,,				2504	0.2883				p.K338K		Atlas-SNP	.											.	MAGI2	246	.	0			c.G1014A						PASS	.	C		1882,2524	542.0+/-375.9	408,1066,729	204	207	206		1014	5.5	1	7	dbSNP_107	206	2611,5989	420.6+/-353.4	405,1801,2094	no	coding-synonymous	MAGI2	NM_012301.3		813,2867,2823	TT,TC,CC		30.3605,42.7145,34.5456		338/1456	78119109	4493,8513	2203	4300	6503	SO:0001819	synonymous_variant	9863	exon6			TTTAGCCTTTTTC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1014G>A	7.37:g.78119109C>T		Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	259	159	0.6139	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																			C|0.670;T|0.330	0.330	strong		0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	78119109	C	T	78119109	2	4	23	1	0	0	0	0	0	0	0	1	9191	680	24	2		2	MAGI2	7	78119109	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	549550	78119109	81019554	1903	18359										
GNAI1	2770	hgsc.bcm.edu	37	chr7	79842157	79842157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaaaatcaaaaagagcccTctcactatatgctatccaga	5	10	2	2	rs10241877	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:79842157T>C	ENST00000351004.3	+	7	1219	c.846T>C	c.(844-846)ccT>ccC	p.P282P	GNAI1_ENST00000457358.2_Silent_p.P230P	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	282					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAAAGAGCCCTCTCACTATAT	0.333													T|||	533	0.10643	0.0098	0.1196	5008	,	,		16091	0.0843		0.1233	False		,,,				2504	0.2331				p.P282P		Atlas-SNP	.											.	GNAI1	44	.	0			c.T846C						PASS	.	T		129,4277	87.8+/-126.4	1,127,2075	66	74	71		846	-1.8	1	7	dbSNP_119	71	888,7698	189.4+/-236.2	40,808,3445	no	coding-synonymous	GNAI1	NM_002069.5		41,935,5520	CC,CT,TT		10.3424,2.9278,7.8279		282/355	79842157	1017,11975	2203	4293	6496	SO:0001819	synonymous_variant	2770	exon7			GAGCCCTCTCACT	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.846T>C	7.37:g.79842157T>C		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	204	65	0.318627	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	37	CCDS5595.1																																																																																			T|0.917;C|0.083	0.083	strong		0.333	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		C	79842157	T	C	79842157	2	2	23	1	0	0	0	0	0	0	0	1	6504	1538	54	3		3	GNAI1	7	79842157	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1723048	79842157	79296506	1904	18360										
SEMA3C	10512	hgsc.bcm.edu	37	chr7	80380645	80380645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtctcacatcttgtcttcGgctcctcctgcaagtgcaga	8	13	3	1	rs138526129		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:80380645G>T	ENST00000265361.3	-	16	2212	c.1651C>A	c.(1651-1653)Cga>Aga	p.R551R	SEMA3C_ENST00000544525.1_Silent_p.R569R|SEMA3C_ENST00000419255.2_Silent_p.R551R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	551					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCTTGTCTTCGGCTCCTCCTG	0.388																																					p.R551R		Atlas-SNP	.											.	SEMA3C	106	.	0			c.C1651A						PASS	.	G		0,4406		0,0,2203	155	137	143		1651	4.7	1	7	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA3C	NM_006379.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		551/752	80380645	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10512	exon16			GTCTTCGGCTCCT	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1651C>A	7.37:g.80380645G>T		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	251	151	0.601594	NM_006379	B4DRL8	Silent	SNP	ENST00000265361.3	37	CCDS5596.1																																																																																			G|1.000;T|0.000	0.000	weak		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80380645	G	T	80380645	2	4	23	1	0	0	0	0	0	0	0	1	14026	1124	39	4		4	SEMA3C	7	80380645	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	538488	80380645	78758018	1905	18361										
CACNA2D1	781	hgsc.bcm.edu	37	chr7	81635083	81635083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcaaatttcatcttactgTaaaacgtggtgtcagtcttt	8	7	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:81635083T>C	ENST00000356253.5	-	17	1768	c.1513A>G	c.(1513-1515)Aca>Gca	p.T505A	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.T505A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	505	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATCTTACTGTAAAACGTGGT	0.358																																					p.T505A		Atlas-SNP	.											.	CACNA2D1	191	.	0			c.A1513G						PASS	.						123	117	119					7																	81635083		2203	4299	6502	SO:0001583	missense	781	exon17			TTACTGTAAAACG	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1513A>G	7.37:g.81635083T>C	ENSP00000348589:p.Thr505Ala	Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	475	107	0.225263	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	T	17.74	3.464121	0.63513	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.06608	3.28;3.28	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	L	0.58669	1.825	0.80722	D	1	B	0.19445	0.036	B	0.20384	0.029	T	0.02885	-1.1098	10	0.56958	D	0.05	-20.1301	15.0578	0.71927	0.0:0.0:0.0:1.0	.	505	P54289-2	.	A	505	ENSP00000349320:T505A;ENSP00000348589:T505A	ENSP00000284088:T505A	T	-	1	0	CACNA2D1	81473019	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.672000	0.83956	2.040000	0.60383	0.482000	0.46254	ACA	.	.	none		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				C	81635083	T	C	81635083	3	2	23	1	0	0	0	0	1	0	0	0	2548	1638	57	2	1854	2	CACNA2D1	7	81635083	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1254438	81635083	77503580	1906	18362										
PCLO	27445	hgsc.bcm.edu	37	chr7	82451984	82451984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggactactatgggatttcTcaatggtgggaacctgcatg	12	8	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:82451984T>G	ENST00000333891.9	-	20	14955	c.14618A>C	c.(14617-14619)gAg>gCg	p.E4873A	PCLO_ENST00000423517.2_Missense_Mutation_p.E4873A|PCLO_ENST00000426442.2_5'UTR	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						ATGGGATTTCTCAATGGTGGG	0.438																																					p.E4873A		Atlas-SNP	.											.	PCLO	1506	.	0			c.A14618C						PASS	.						231	226	228					7																	82451984		1967	4169	6136	SO:0001583	missense	27445	exon20			GATTTCTCAATGG	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.14618A>C	7.37:g.82451984T>G	ENSP00000334319:p.Glu4873Ala	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	62	12	0.193548	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635321	0.47049	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.18174	2.29;2.23	5.05	5.05	0.67936	.	.	.	.	.	T	0.30823	0.0777	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.87578	0.998;0.998;0.991;0.98	T	0.06826	-1.0805	9	0.87932	D	0	.	15.0845	0.72142	0.0:0.0:0.0:1.0	.	4873;4873;294;361	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	A	4873;4873;360	ENSP00000334319:E4873A;ENSP00000388393:E4873A	ENSP00000334319:E4873A	E	-	2	0	PCLO	82289920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.023000	0.59567	0.533000	0.62120	GAG	.	.	none		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82451984	T	G	82451984	3	3	23	1	0	0	0	0	1	0	0	0	11583	1551	54	5	851	5	PCLO	7	82451984	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	816901	82451984	76686679	1907	18363										
ABCB1	5243	hgsc.bcm.edu	37	chr7	87178735	87178735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggcctcatccagcaggaGgatcttggggttgcgaacca	14	11	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:87178735G>A	ENST00000265724.3	-	15	2071	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	ABCB1_ENST00000543898.1_Missense_Mutation_p.L488F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	552	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCCAGCAGGAGGATCTTGGGG	0.562																																					p.L552F		Atlas-SNP	.											ABCB1,NS,carcinoma,+2,1	ABCB1	263	1	0			c.C1654T						scavenged	.						125	104	111					7																	87178735		2203	4300	6503	SO:0001583	missense	5243	exon15			GCAGGAGGATCTT	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1654C>T	7.37:g.87178735G>A	ENSP00000265724:p.Leu552Phe	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	253	3	0.0118577	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106184	0.94292	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.84146	-1.81;-1.81	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.93263	0.6645	10	0.87932	D	0	-15.3275	20.051	0.97627	0.0:0.0:1.0:0.0	.	488;552	B5AK60;P08183	.;MDR1_HUMAN	F	333;552;488	ENSP00000265724:L552F;ENSP00000444095:L488F	ENSP00000265724:L552F	L	-	1	0	ABCB1	87016671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.774000	0.75012	2.740000	0.93945	0.650000	0.86243	CTC	.	.	none		0.562	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87178735	G	A	87178735	3	1	23	1	0	0	0	0	1	0	0	0	40	1000	35	2	2248	2	ABCB1	7	87178735	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4726751	87178735	71959928	1908	18364										
ABCB1	5243	hgsc.bcm.edu	37	chr7	87229440	87229440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaagctagttaccttttatTgttcagtttaaaaaagttct	5	6	2	0	rs9282564|rs9332385	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:87229440T>C	ENST00000265724.3	-	3	478	c.61A>G	c.(61-63)Aat>Gat	p.N21D	ABCB1_ENST00000543898.1_Missense_Mutation_p.N21D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	21			N -> D (in dbSNP:rs9282564). {ECO:0000269|PubMed:10716719, ECO:0000269|PubMed:10790226, ECO:0000269|PubMed:11240981, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TACCTTTTATTGTTCAGTTTA	0.378													T|||	130	0.0259585	0.0015	0.0317	5008	,	,		18389	0.0		0.0835	False		,,,				2504	0.0225				p.N21D		Atlas-SNP	.											ABCB1,NS,adenoma,0,1	ABCB1	263	1	0			c.A61G						scavenged	.	T	ASP/ASN	119,4287	89.2+/-127.9	4,111,2088	100	95	96		61	-2.7	0	7	dbSNP_118	96	857,7743	194.9+/-240.2	52,753,3495	yes	missense	ABCB1	NM_000927.4	23	56,864,5583	CC,CT,TT		9.9651,2.7009,7.5042	benign	21/1281	87229440	976,12030	2203	4300	6503	SO:0001583	missense	5243	exon3			TTTTATTGTTCAG	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.61A>G	7.37:g.87229440T>C	ENSP00000265724:p.Asn21Asp	Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	157	59	0.375796	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	83	0.038003663003663	2	0.0040650406504065045	12	0.03314917127071823	0	0.0	69	0.09102902374670185	T	4.122	0.020862	0.08006	0.027009	0.099651	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.86769	-2.15;-2.17;1.93	4.07	-2.74	0.05932	.	0.520681	0.20542	N	0.090297	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.23297	-1.0192	10	0.15952	T	0.53	-1.4166	4.4301	0.11524	0.0:0.2864:0.3307:0.3829	rs9282564;rs13234342;rs61615398;rs9282564	21;21	B5AK60;P08183	.;MDR1_HUMAN	D	21	ENSP00000265724:N21D;ENSP00000444095:N21D;ENSP00000399419:N21D	ENSP00000265724:N21D	N	-	1	0	ABCB1	87067376	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.186000	0.09670	-0.487000	0.06735	-1.829000	0.00594	AAT	.	.	weak		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		C	87229440	T	C	87229440	3	2	23	1	0	0	0	0	1	0	0	0	40	1812	63	2	3889	2	ABCB1	7	87229440	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	50705	87229440	71909223	1909	18365										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88964000	88964000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aataagagtgaatatactttCagtgcaaatgatttggaaat	8	3	1	3	rs801839	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:88964000C>T	ENST00000333190.4	+	4	2313	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	568							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATACTTTCAGTGCAAATG	0.353										HNSCC(36;0.09)			T|||	2553	0.509784	0.7345	0.3401	5008	,	,		19433	0.7153		0.2336	False		,,,				2504	0.3988				p.F568F		Atlas-SNP	.											.	ZNF804B	322	.	0			c.C1704T						PASS	.	T		2816,1566		895,1026,270	42	45	44		1704	4.3	0.5	7	dbSNP_86	44	2011,6581		238,1535,2523	no	coding-synonymous	ZNF804B	NM_181646.2		1133,2561,2793	TT,TC,CC		23.4055,35.7371,37.2052		568/1350	88964000	4827,8147	2191	4296	6487	SO:0001819	synonymous_variant	219578	exon4			TACTTTCAGTGCA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1704C>T	7.37:g.88964000C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	101	62	0.613861	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																			C|0.493;T|0.507	0.507	strong		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88964000	C	T	88964000	2	4	23	1	0	0	0	0	0	0	0	1	18168	825	29	2		2	ZNF804B	7	88964000	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1734560	88964000	70174663	1910	18366										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88965021	88965021	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgttccagtggcccttcaGaaaccacagaatcaaacact	6	13	2	2	rs10487075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:88965021G>A	ENST00000333190.4	+	4	3334	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	909			E -> K (in dbSNP:rs10487075).				metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGGCCCTTCAGAAACCACAGA	0.458										HNSCC(36;0.09)			G|||	269	0.0537141	0.003	0.0576	5008	,	,		17988	0.0843		0.0994	False		,,,				2504	0.0409				p.E909K		Atlas-SNP	.											.	ZNF804B	322	.	0			c.G2725A						PASS	.	G	LYS/GLU	105,4301	80.9+/-119.3	1,103,2099	85	90	88		2725	2	0.1	7	dbSNP_119	88	917,7683	203.2+/-246.3	43,831,3426	yes	missense	ZNF804B	NM_181646.2	56	44,934,5525	AA,AG,GG		10.6628,2.3831,7.8579	benign	909/1350	88965021	1022,11984	2203	4300	6503	SO:0001583	missense	219578	exon4			CCTTCAGAAACCA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2725G>A	7.37:g.88965021G>A	ENSP00000329638:p.Glu909Lys	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	172	107	0.622093	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	148	0.06776556776556776	1	0.0020325203252032522	29	0.08011049723756906	39	0.06818181818181818	79	0.10422163588390501	G	12.56	1.975107	0.34848	0.023831	0.106628	ENSG00000182348	ENST00000333190	T	0.04970	3.52	5.1	2.02	0.26589	.	1.409490	0.03949	N	0.288266	T	0.00144	0.0004	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37033	-0.9723	10	0.66056	D	0.02	-2.7179	6.8002	0.23746	0.2428:0.1476:0.6096:0.0	rs10487075;rs17679226;rs56460583;rs60463003;rs10487075	909	A4D1E1	Z804B_HUMAN	K	909	ENSP00000329638:E909K	ENSP00000329638:E909K	E	+	1	0	ZNF804B	88802957	0.003000	0.15002	0.089000	0.20774	0.044000	0.14063	0.532000	0.23067	0.710000	0.31997	0.655000	0.94253	GAA	G|0.916;A|0.084	0.084	strong		0.458	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88965021	G	A	88965021	3	1	23	1	0	0	0	0	1	0	0	0	18168	943	33	2	2739	2	ZNF804B	7	88965021	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1021	88965021	70173642	1911	18367										
C7orf63	79846	hgsc.bcm.edu	37	chr7	89906609	89906609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaagaaattactattcaaCgtaattgtgatcttatgtaa	6	4	2	3	rs3761805	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:89906609C>T	ENST00000389297.4	+	11	1367	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	C7orf63_ENST00000316089.8_Silent_p.N372N|C7orf63_ENST00000497910.1_Silent_p.N354N	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		372										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACTATTCAACGTAATTGTGA	0.284													T|||	2022	0.403754	0.4206	0.3905	5008	,	,		16063	0.6855		0.2286	False		,,,				2504	0.2802				p.N372N		Atlas-SNP	.											C7orf63_ENST00000389297,colon,carcinoma,+2,2	C7orf63	158	2	0			c.C1116T						scavenged	.	T	,	1262,2320		226,810,755	39	41	40		1116,1062	1.1	1	7	dbSNP_107	40	1491,6557		133,1225,2666	no	coding-synonymous,coding-synonymous	C7orf63	NM_001039706.2,NM_001160138.1	,	359,2035,3421	TT,TC,CC		18.5263,35.2317,23.6715	,	372/942,354/924	89906609	2753,8877	1791	4024	5815	SO:0001819	synonymous_variant	79846	exon11			ATTCAACGTAATT																												ENST00000389297.4:c.1116C>T	7.37:g.89906609C>T		Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	187	56	0.299465	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2																																																																																			C|0.602;T|0.398	0.398	strong		0.284	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89906609	C	T	89906609	2	4	23	1	0	0	0	0	0	0	0	1	2409	535	19	1		1	C7orf63	7	89906609	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	941588	89906609	69232054	1912	18368										
GTPBP10	85865	hgsc.bcm.edu	37	chr7	89982132	89982132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcttttttttttaagtaTggaaatttcatcgataagct	5	5	2	0	rs6972561	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:89982132T>C	ENST00000222511.6	+	2	102	c.36T>C	c.(34-36)taT>taC	p.Y12Y	GTPBP10_ENST00000257659.8_Silent_p.Y12Y	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTAAGTATGGAAATTTCA	0.368											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	1370	0.273562	0.3979	0.2536	5008	,	,		15695	0.244		0.2366	False		,,,				2504	0.1881				p.Y12Y		Atlas-SNP	.											.	GTPBP10	31	.	0			c.T36C						PASS	.	T	,	1521,2885	481.0+/-359.0	269,983,951	81	82	82		36,36	6.1	1	7	dbSNP_116	82	1671,6929	307.2+/-308.3	156,1359,2785	no	coding-synonymous,coding-synonymous	GTPBP10	NM_001042717.2,NM_033107.3	,	425,2342,3736	CC,CT,TT		19.4302,34.5211,24.5425	,	12/309,12/388	89982132	3192,9814	2203	4300	6503	SO:0001819	synonymous_variant	85865	exon2			TAAGTATGGAAAT		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.36T>C	7.37:g.89982132T>C		Somatic	39	0	0	1271	WXS	Illumina HiSeq	Phase_I	44	22	0.5	NM_001042717	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Silent	SNP	ENST00000222511.6	37	CCDS5617.1																																																																																			T|0.731;C|0.269	0.269	strong		0.368	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		C	89982132	T	C	89982132	2	2	23	1	0	0	0	0	0	0	0	1	6879	1471	51	2		2	GTPBP10	7	89982132	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	75523	89982132	69156531	1913	18369										
GTPBP10	85865	hgsc.bcm.edu	37	chr7	90001496	90001496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgctggaaaatcctctttGctaagttgtgtttctcatgc	8	8	2	0	rs35001814	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:90001496G>C	ENST00000222511.6	+	5	558	c.492G>C	c.(490-492)ttG>ttC	p.L164F	GTPBP10_ENST00000257659.8_Missense_Mutation_p.L85F	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	164	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.		L -> F (in dbSNP:rs35001814).		ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AATCCTCTTTGCTAAGTTGTG	0.308													G|||	253	0.0505192	0.0068	0.0965	5008	,	,		16095	0.002		0.1302	False		,,,				2504	0.045				p.L164F		Atlas-SNP	.											.	GTPBP10	31	.	0			c.G492C						PASS	.	G	PHE/LEU,PHE/LEU	130,4276	92.0+/-130.7	3,124,2076	72	67	69		255,492	1.6	1	7	dbSNP_126	69	1291,7307	249.9+/-277.0	96,1099,3104	yes	missense,missense	GTPBP10	NM_001042717.2,NM_033107.3	22,22	99,1223,5180	CC,CG,GG		15.0151,2.9505,10.9274	probably-damaging,probably-damaging	85/309,164/388	90001496	1421,11583	2203	4299	6502	SO:0001583	missense	85865	exon5			CTCTTTGCTAAGT		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.492G>C	7.37:g.90001496G>C	ENSP00000222511:p.Leu164Phe	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	106	58	0.54717	NM_033107	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	136	0.06227106227106227	5	0.01016260162601626	39	0.10773480662983426	0	0.0	92	0.12137203166226913	G	13.87	2.366126	0.41902	0.029505	0.150151	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511	T;T;T;T	0.37915	1.34;1.34;1.17;1.17	5.91	1.58	0.23477	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.00356	0.0011	L	0.49640	1.575	0.09310	P	0.99999601463	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;D	0.91635	0.999;0.995;0.996;0.914	T	0.04708	-1.0932	8	.	.	.	-0.0399	11.8102	0.52179	0.3465:0.0:0.6535:0.0	rs35001814	85;164;155;181	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	F	155;181;85;164	ENSP00000405697:L155F;ENSP00000389510:L181F;ENSP00000257659:L85F;ENSP00000222511:L164F	.	L	+	3	2	GTPBP10	89839432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.259000	0.32956	0.399000	0.25367	-0.136000	0.14681	TTG	G|0.908;C|0.092	0.092	strong		0.308	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		C	90001496	G	C	90001496	3	2	23	1	0	0	0	0	1	0	0	0	6879	1310	46	4	510	4	GTPBP10	7	90001496	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19364	90001496	69137167	1914	18370										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91630620	91630620	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggcacagatggaggaaatGaaaacacggcataagggaga	14	5	0	3	rs6964587	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91630620G>T	ENST00000359028.2	+	9	1650	c.1425G>T	c.(1423-1425)atG>atT	p.M475I	AKAP9_ENST00000356239.3_Missense_Mutation_p.M463I|AKAP9_ENST00000358100.2_Missense_Mutation_p.M475I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	475	Glu-rich.		M -> I (in dbSNP:rs6964587). {ECO:0000269|PubMed:10358086}.		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGAGGAAATGAAAACACGGC	0.373			T	BRAF	papillary thyroid								T|||	1864	0.372204	0.5023	0.3573	5008	,	,		21441	0.1617		0.3867	False		,,,				2504	0.409				p.M463I		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.G1389T	GRCh37	CM064968	AKAP9	M	rs6964587	PASS	.	T	ILE/MET,ILE/MET	2261,2141	566.4+/-381.9	576,1109,516	93	100	98		1389,1389	-3.5	0.1	7	dbSNP_116	98	3466,5134	618.5+/-396.8	680,2106,1514	yes	missense,missense	AKAP9	NM_005751.4,NM_147185.2	10,10	1256,3215,2030	TT,TG,GG		40.3023,48.637,44.0471	benign,benign	463/3908,463/3900	91630620	5727,7275	2201	4300	6501	SO:0001583	missense	10142	exon8			GGAAATGAAAACA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1425G>T	7.37:g.91630620G>T	ENSP00000351922:p.Met475Ile	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	95	94	0.989474	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		786	0.3598901098901099	255	0.5182926829268293	136	0.3756906077348066	100	0.17482517482517482	295	0.3891820580474934	T	0.019	-1.456513	0.01071	0.51363	0.403023	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03441	3.93;3.93;3.93	5.61	-3.46	0.04767	.	0.420625	0.17659	N	0.166392	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.002;0.002;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.0	T	0.38757	-0.9646	9	0.36615	T	0.2	.	13.89	0.63733	0.0:0.0588:0.6372:0.304	rs6964587;rs59973703;rs6964587	475;463;463;475	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	I	463;475;475;475;475	ENSP00000348573:M463I;ENSP00000351922:M475I;ENSP00000350813:M475I	ENSP00000348573:M463I	M	+	3	0	AKAP9	91468556	0.310000	0.24527	0.116000	0.21606	0.002000	0.02628	0.234000	0.17930	-0.686000	0.05170	-1.050000	0.02344	ATG	G|0.608;T|0.392	0.392	strong		0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91630620	G	T	91630620	3	4	23	1	0	0	0	0	1	0	0	0	459	1290	45	4	1419	4	AKAP9	7	91630620	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1629124	91630620	67508043	1915	18371										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91632306	91632306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttattagatggagttgtgacCatgacaagcaggggtgctga	14	5	0	4	rs1989779	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91632306C>T	ENST00000359028.2	+	9	3336	c.3111C>T	c.(3109-3111)acC>acT	p.T1037T	AKAP9_ENST00000356239.3_Silent_p.T1025T|AKAP9_ENST00000358100.2_Silent_p.T1037T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1037					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGTTGTGACCATGACAAGCA	0.343			T	BRAF	papillary thyroid								T|||	4687	0.935903	0.9894	0.9409	5008	,	,		19914	0.9673		0.8787	False		,,,				2504	0.8865				p.T1025T		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.C3075T						PASS	.	T	,	4283,123	90.6+/-129.3	2082,119,2	78	79	79		3075,3075	-5.9	0	7	dbSNP_92	79	7505,1095	227.9+/-263.1	3277,951,72	no	coding-synonymous,coding-synonymous	AKAP9	NM_005751.4,NM_147185.2	,	5359,1070,74	TT,TC,CC		12.7326,2.7916,9.3649	,	1025/3908,1025/3900	91632306	11788,1218	2203	4300	6503	SO:0001819	synonymous_variant	10142	exon8			TGTGACCATGACA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3111C>T	7.37:g.91632306C>T		Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	229	229	1	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				C|0.082;T|0.918	0.918	strong		0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91632306	C	T	91632306	2	4	23	1	0	0	0	0	0	0	0	1	459	581	21	2		2	AKAP9	7	91632306	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1686	91632306	67506357	1916	18372										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91641928	91641928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaaaatacaccagttagaActacagactatgaaaacaca	5	9	0	4	rs13245393	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91641928A>G	ENST00000359028.2	+	10	3765	c.3540A>G	c.(3538-3540)gaA>gaG	p.E1180E	AKAP9_ENST00000356239.3_Silent_p.E1168E|AKAP9_ENST00000358100.2_Silent_p.E1180E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1180					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCAGTTAGAACTACAGACTA	0.328			T	BRAF	papillary thyroid								G|||	1872	0.373802	0.5076	0.3573	5008	,	,		18366	0.1617		0.3867	False		,,,				2504	0.41				p.E1168E		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.A3504G						PASS	.	G	,	2279,2127	576.6+/-384.3	583,1113,507	75	77	76		3504,3504	-0.3	1	7	dbSNP_121	76	3467,5133	632.0+/-398.6	678,2111,1511	no	coding-synonymous,coding-synonymous	AKAP9	NM_005751.4,NM_147185.2	,	1261,3224,2018	GG,GA,AA		40.314,48.2751,44.1796	,	1168/3908,1168/3900	91641928	5746,7260	2203	4300	6503	SO:0001819	synonymous_variant	10142	exon9			GTTAGAACTACAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3540A>G	7.37:g.91641928A>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	73	72	0.986301	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				A|0.589;G|0.411	0.411	strong		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91641928	A	G	91641928	2	3	23	1	0	0	0	0	0	0	0	1	459	40	2	2		2	AKAP9	7	91641928	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9622	91641928	67496735	1917	18373										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91660861	91660861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagtgaaagaggaaacaaaTatcgttaagttgcttgaaaa	11	3	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91660861T>C	ENST00000359028.2	+	17	4542	c.4317T>C	c.(4315-4317)aaT>aaC	p.N1439N	AKAP9_ENST00000356239.3_Silent_p.N1427N|AKAP9_ENST00000358100.2_Silent_p.N1439N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1439					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAAACAAATATCGTTAAGT	0.284			T	BRAF	papillary thyroid																																p.N1427N		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.T4281C						PASS	.						121	128	126					7																	91660861		2202	4297	6499	SO:0001819	synonymous_variant	10142	exon16			AACAAATATCGTT	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4317T>C	7.37:g.91660861T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	91	6	0.0659341	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				.	.	none		0.284	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91660861	T	C	91660861	2	2	23	1	0	0	0	0	0	0	0	1	459	1403	49	2		2	AKAP9	7	91660861	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	18933	91660861	67477802	1918	18374										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91691601	91691601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attataggcgtcattgatggCtatgcagatgaaaaaactct	9	6	2	3	rs10236397	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91691601C>T	ENST00000359028.2	+	25	6039	c.5814C>T	c.(5812-5814)ggC>ggT	p.G1938G	AKAP9_ENST00000356239.3_Silent_p.G1926G|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Silent_p.G1938G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1938	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCATTGATGGCTATGCAGATG	0.308			T	BRAF	papillary thyroid								C|||	1802	0.359824	0.4561	0.3559	5008	,	,		17846	0.1617		0.3857	False		,,,				2504	0.41				p.G1926G		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.C5778T						PASS	.	C	,	2096,2310	554.0+/-378.9	497,1102,604	71	79	76		5778,5778	-1.1	1	7	dbSNP_119	76	3467,5133	505.5+/-376.4	678,2111,1511	no	coding-synonymous,coding-synonymous	AKAP9	NM_005751.4,NM_147185.2	,	1175,3213,2115	TT,TC,CC		40.314,47.5715,42.7726	,	1926/3908,1926/3900	91691601	5563,7443	2203	4300	6503	SO:0001819	synonymous_variant	10142	exon24			TGATGGCTATGCA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5814C>T	7.37:g.91691601C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	185	185	1	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				C|0.605;T|0.395	0.395	strong		0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91691601	C	T	91691601	2	4	23	1	0	0	0	0	0	0	0	1	459	784	28	2		2	AKAP9	7	91691601	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30740	91691601	67447062	1919	18375										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91712698	91712698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgaagatcagtagcagcaAtcagactccacaaattcttg	7	10	4	3	rs6960867	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91712698A>G	ENST00000359028.2	+	34	8636	c.8411A>G	c.(8410-8412)aAt>aGt	p.N2804S	AKAP9_ENST00000356239.3_Missense_Mutation_p.N2792S|AKAP9_ENST00000358100.2_Missense_Mutation_p.N2804S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2804			N -> S (in dbSNP:rs6960867).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTAGCAGCAATCAGACTCCA	0.378			T	BRAF	papillary thyroid								A|||	1482	0.295927	0.2209	0.3458	5008	,	,		19775	0.1617		0.3837	False		,,,				2504	0.41				p.N2792S		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.A8375G						PASS	.	A	SER/ASN,SER/ASN	1180,3226	413.3+/-336.4	165,850,1188	76	74	75		8375,8351	-2.1	0.2	7	dbSNP_116	75	3451,5149	508.1+/-377.0	670,2111,1519	yes	missense,missense	AKAP9	NM_005751.4,NM_147185.2	46,46	835,2961,2707	GG,GA,AA		40.1279,26.7817,35.6066	benign,benign	2792/3908,2784/3900	91712698	4631,8375	2203	4300	6503	SO:0001583	missense	10142	exon33			GCAGCAATCAGAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8411A>G	7.37:g.91712698A>G	ENSP00000351922:p.Asn2804Ser	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	173	173	1	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		647	0.29624542124542125	121	0.2459349593495935	132	0.36464088397790057	100	0.17482517482517482	294	0.38786279683377306	A	7.078	0.569650	0.13560	0.267817	0.401279	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.8	-2.13	0.07144	.	0.961519	0.08519	N	0.933795	T	0.00012	0.0000	M	0.62723	1.935	0.80722	P	0.0	B;B;B;B;B	0.17667	0.023;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.007;0.002;0.001;0.002;0.002	T	0.45818	-0.9235	9	0.18276	T	0.48	.	1.523	0.02520	0.3963:0.2606:0.2292:0.114	rs6960867;rs6960867	2796;2796;2804;2792;2784	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	S	2792;2804;2804;2796;638	ENSP00000348573:N2792S;ENSP00000351922:N2804S;ENSP00000350813:N2804S;ENSP00000378042:N638S	ENSP00000348573:N2792S	N	+	2	0	AKAP9	91550634	0.002000	0.14202	0.157000	0.22605	0.795000	0.44927	0.398000	0.20899	-0.542000	0.06249	0.482000	0.46254	AAT	A|0.667;G|0.333	0.333	strong		0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91712698	A	G	91712698	3	3	23	1	0	0	0	0	1	0	0	0	459	101	4	2	8505	2	AKAP9	7	91712698	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21097	91712698	67425965	1920	18376										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91713972	91713972	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggatcctcaattcctgagCtagcacattctgatgcttac	8	11	2	2	rs10228334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91713972C>T	ENST00000359028.2	+	35	8947				AKAP9_ENST00000356239.3_Silent_p.L2889L|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATTCCTGAGCTAGCACATTC	0.289			T	BRAF	papillary thyroid								T|||	1872	0.373802	0.5076	0.3573	5008	,	,		15836	0.1617		0.3867	False		,,,				2504	0.41				p.L2889L		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.C8665T						PASS	.	T	,	2271,2135	553.6+/-378.8	579,1113,511	42	45	44		8665,8641	0.7	0.9	7	dbSNP_119	44	3458,5128	618.1+/-396.7	681,2096,1516	no	coding-synonymous,coding-synonymous	AKAP9	NM_005751.4,NM_147185.2	,	1260,3209,2027	TT,TC,CC		40.2749,48.4567,44.0964	,	2889/3908,2881/3900	91713972	5729,7263	2203	4293	6496	SO:0001627	intron_variant	10142	exon34			CCTGAGCTAGCAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8723-161C>T	7.37:g.91713972C>T		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	251	251	1	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				C|0.593;T|0.407	0.407	strong		0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91713972	C	T	91713972	1	4	23	0	1	0	0	0	0	0	0	0	459	796	28	2		2	AKAP9	7	91713972	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1274	91713972	67424691	1921	18377										
AKAP9	10142	hgsc.bcm.edu	37	chr7	91726927	91726927	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggagcttaaccagtgatAgaactagaaattgggttctt	11	6	1	3	rs1063243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91726927A>C	ENST00000359028.2	+	42	10663	c.10438A>C	c.(10438-10440)Aga>Cga	p.R3480R	AKAP9_ENST00000356239.3_Silent_p.R3476R|AKAP9_ENST00000358100.2_Silent_p.R3426R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3480					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACCAGTGATAGAACTAGAAA	0.368			T	BRAF	papillary thyroid								C|||	1890	0.377396	0.5212	0.3573	5008	,	,		18085	0.1617		0.3867	False		,,,				2504	0.41				p.R3476R		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	AKAP9_ENST00000356239,NS,carcinoma,-1,2	AKAP9	788	2	0			c.A10426C						PASS	.	C	,	2333,2073	560.3+/-380.4	619,1095,489	68	69	69		10426,10402	1.1	0.9	7	dbSNP_86	69	3471,5129	632.1+/-398.6	681,2109,1510	yes	coding-synonymous,coding-synonymous	AKAP9	NM_005751.4,NM_147185.2	,	1300,3204,1999	CC,CA,AA		40.3605,47.0495,44.6256	,	3476/3908,3468/3900	91726927	5804,7202	2203	4300	6503	SO:0001819	synonymous_variant	10142	exon42			AGTGATAGAACTA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10438A>C	7.37:g.91726927A>C		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	263	259	0.984791	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				A|0.588;C|0.412	0.412	strong		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91726927	A	C	91726927	2	2	23	1	0	0	0	0	0	0	0	1	459	412	15	5		5	AKAP9	7	91726927	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12955	91726927	67411736	1922	18378										
CYP51A1	1595	hgsc.bcm.edu	37	chr7	91743150	91743150	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaattttccccaatacaacgAtgacgccctaaaaaaaagaa	4	10	0	2	rs7797834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:91743150A>G	ENST00000003100.8	-	10	1524	c.1359T>C	c.(1357-1359)caT>caC	p.H453H	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.H348H	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	447					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CAATACAACGATGACGCCCTA	0.323													A|||	1801	0.359625	0.4539	0.3588	5008	,	,		16445	0.1607		0.3867	False		,,,				2504	0.41				p.H453H	GBM(70;1100 1190 11592 25836 51397)	Atlas-SNP	.											.	CYP51A1	30	.	0			c.T1359C						PASS	.	A	,	2077,2329	553.2+/-378.7	487,1103,613	59	61	61		1359,1044	3.7	1	7	dbSNP_116	61	3453,5147	503.1+/-375.8	672,2109,1519	no	coding-synonymous,coding-synonymous	CYP51A1	NM_000786.3,NM_001146152.1	,	1159,3212,2132	GG,GA,AA		40.1512,47.1403,42.5188	,	453/510,348/405	91743150	5530,7476	2203	4300	6503	SO:0001819	synonymous_variant	1595	exon10			ACAACGATGACGC	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1359T>C	7.37:g.91743150A>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	64	63	0.984375	NM_000786	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Silent	SNP	ENST00000003100.8	37	CCDS5623.1	775	0.35485347985347987	241	0.4898373983739837	137	0.3784530386740331	100	0.17482517482517482	297	0.391820580474934	A	13.19	2.164343	0.38217	0.471403	0.401512	ENSG00000001630	ENST00000422867	.	.	.	4.88	3.73	0.42828	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.49735	-0.8908	3	.	.	.	.	10.4441	0.44483	0.9233:0.0:0.0767:0.0	rs7797834;rs10360207;rs57944744;rs7797834	.	.	.	P	166	.	.	S	-	1	0	CYP51A1	91581086	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.131000	0.50515	0.894000	0.36317	-0.353000	0.07706	TCG	A|0.620;G|0.380	0.380	strong		0.323	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			G	91743150	A	G	91743150	2	3	23	1	0	0	0	0	0	0	0	1	4195	330	12	2		2	CYP51A1	7	91743150	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	16223	91743150	67395513	1923	18379										
C7orf64	84060	hgsc.bcm.edu	37	chr7	92158154	92158154	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgagcggcggggagctaggGagtttatttgatcaccacgt	15	8	1	1	rs117787377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:92158154G>A	ENST00000265732.5	+	1	68	c.27G>A	c.(25-27)ggG>ggA	p.G9G	RBM48_ENST00000481551.1_Silent_p.G9G|PEX1_ENST00000438045.1_5'Flank|PEX1_ENST00000248633.4_5'Flank|PEX1_ENST00000428214.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	9						nucleus (GO:0005634)	RNA binding (GO:0003723)										GGGAGCTAGGGAGTTTATTTG	0.552													G|||	20	0.00399361	0.0008	0.0029	5008	,	,		17571	0.0		0.0149	False		,,,				2504	0.002				p.G9G		Atlas-SNP	.											.	.	.	.	0			c.G27A						PASS	.	G		18,3950		0,18,1966	70	75	74		27	-4	0	7	dbSNP_132	74	123,8149		0,123,4013	no	coding-synonymous	C7orf64	NM_032120.2		0,141,5979	AA,AG,GG		1.4869,0.4536,1.152		9/368	92158154	141,12099	1984	4136	6120	SO:0001819	synonymous_variant	84060	exon1			GCTAGGGAGTTTA	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.27G>A	7.37:g.92158154G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	266	167	0.62782	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	CCDS43615.1																																																																																			G|0.992;A|0.008	0.008	strong		0.552	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		A	92158154	G	A	92158154	2	1	23	1	0	0	0	0	0	0	0	1	2410	1161	41	2		2	C7orf64	7	92158154	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	415004	92158154	66980509	1924	18380										
SAMD9	54809	hgsc.bcm.edu	37	chr7	92734358	92734358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaactttatttttcgtaatGtccttagagctggtcccatc	6	10	1	1	rs200454238		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:92734358G>A	ENST00000379958.2	-	3	1322	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	351						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.S348fs*47(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCGTAATGTCCTTAGAGC	0.323																																					p.D351D		Atlas-SNP	.											.	SAMD9	239	.	1	Deletion - Frameshift(1)	breast(1)	c.C1053T						PASS	.	G	,	0,4402		0,0,2201	97	95	96		1053,1053	2.4	0.1	7		96	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,coding-synonymous	SAMD9	NM_001193307.1,NM_017654.3	,	0,4,6496	AA,AG,GG		0.0465,0.0,0.0308	,	351/1590,351/1590	92734358	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	54809	exon2			CGTAATGTCCTTA	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1053C>T	7.37:g.92734358G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	198	68	0.343434	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																			G|0.999;A|0.001	0.001	weak		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92734358	G	A	92734358	2	1	23	1	0	0	0	0	0	0	0	1	13826	1368	48	2		2	SAMD9	7	92734358	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	576204	92734358	66404305	1925	18381										
PPP1R9A	55607	hgsc.bcm.edu	37	chr7	94539536	94539536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagtacctttgacaaaccCaagtcagatggggaacaaaa	8	8	1	2	rs12536183	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:94539536C>T	ENST00000433881.1	+	2	643	c.111C>T	c.(109-111)ccC>ccT	p.P37P	PPP1R9A_ENST00000456331.2_Silent_p.P37P|PPP1R9A_ENST00000424654.1_Silent_p.P37P|PPP1R9A_ENST00000289495.5_Silent_p.P37P|PPP1R9A_ENST00000433360.1_Silent_p.P37P|PPP1R9A_ENST00000340694.4_Silent_p.P37P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	37	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGACAAACCCAAGTCAGATG	0.453										HNSCC(28;0.073)			C|||	549	0.109625	0.0182	0.2248	5008	,	,		19522	0.1448		0.0964	False		,,,				2504	0.1288				p.P37P		Atlas-SNP	.											.	PPP1R9A	264	.	0			c.C111T						PASS	.	C	,,,,	154,4252	105.2+/-143.6	4,146,2053	51	50	50		111,111,111,111,111	4.6	1	7	dbSNP_120	50	731,7869	177.8+/-227.3	31,669,3600	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	,,,,	35,815,5653	TT,TC,CC		8.5,3.4952,6.8046	,,,,	37/1375,37/1297,37/1254,37/1091,37/1099	94539536	885,12121	2203	4300	6503	SO:0001819	synonymous_variant	55607	exon2			CAAACCCAAGTCA	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.111C>T	7.37:g.94539536C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	177	78	0.440678	NM_017650	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																			C|0.915;T|0.085	0.085	strong		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94539536	C	T	94539536	2	4	23	1	0	0	0	0	0	0	0	1	12378	581	21	2		2	PPP1R9A	7	94539536	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1805178	94539536	64599127	1926	18382										
PON1	5444	hgsc.bcm.edu	37	chr7	94946084	94946084	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccattaggcagtatctccaAgtcttcagagccagtttctg	8	11	4	1	rs854560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:94946084A>T	ENST00000222381.3	-	3	394	c.163T>A	c.(163-165)Ttg>Atg	p.L55M	PON1_ENST00000542556.1_Missense_Mutation_p.L55M	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	55			L -> M (in dbSNP:rs854560). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1657140, ECO:0000269|PubMed:7916578, ECO:0000269|PubMed:8393742, ECO:0000269|PubMed:8393745, ECO:0000269|PubMed:8812495}.		aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	AGTATCTCCAAGTCTTCAGAG	0.403													A|||	915	0.182708	0.1498	0.2061	5008	,	,		17849	0.0337		0.3579	False		,,,				2504	0.184				p.L55M	GBM(119;715 1622 17358 22490 33240)	Atlas-SNP	.											.	PON1	55	.	0			c.T163A	GRCh37	CM971236	PON1	M	rs854560	PASS	.	A	MET/LEU	762,3644	308.8+/-290.8	64,634,1505	168	161	163	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	163	-1.8	1	7	dbSNP_86	163	3208,5392	485.5+/-371.6	618,1972,1710	yes	missense	PON1	NM_000446.5	15	682,2606,3215	TT,TA,AA		37.3023,17.2946,30.5244	benign	55/356	94946084	3970,9036	2203	4300	6503	SO:0001583	missense	5444	exon3			TCTCCAAGTCTTC	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.163T>A	7.37:g.94946084A>T	ENSP00000222381:p.Leu55Met	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	151	44	0.291391	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	447	0.20467032967032966	75	0.1524390243902439	88	0.2430939226519337	18	0.03146853146853147	266	0.35092348284960423	A	18.84	3.709500	0.68730	0.172946	0.373023	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.49139	0.79;0.79	5.05	-1.76	0.08006	Six-bladed beta-propeller, TolB-like (1);	0.199502	0.43416	D	0.000561	T	0.00012	0.0000	L	0.59436	1.845	0.32800	P	0.500057	D;B	0.58620	0.983;0.004	D;B	0.64410	0.925;0.04	T	0.19063	-1.0317	9	0.66056	D	0.02	-10.6907	4.2104	0.10509	0.3107:0.0:0.2524:0.4369	rs854560;rs1138340;rs1801051;rs2228157;rs3179555;rs3202100;rs11567862;rs17434839;rs57937067	55;55	F5H4W9;P27169	.;PON1_HUMAN	M	55	ENSP00000222381:L55M;ENSP00000444854:L55M	ENSP00000222381:L55M	L	-	1	2	PON1	94784020	0.991000	0.36638	0.995000	0.50966	0.975000	0.68041	0.196000	0.17176	-0.066000	0.12998	0.528000	0.53228	TTG	A|0.717;T|0.283	0.283	strong		0.403	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		T	94946084	A	T	94946084	3	4	23	1	0	0	0	0	1	0	0	0	12248	69	3	5	932	5	PON1	7	94946084	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	406548	94946084	64192579	1927	18383										
SLC25A13	10165	hgsc.bcm.edu	37	chr7	95800820	95800820	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctctggggcaactcccaaTaactgtggcaacagacctaa	8	12	1	1	rs2301629	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:95800820T>C	ENST00000265631.5	-	12	1330	c.1194A>G	c.(1192-1194)ttA>ttG	p.L398L	SLC25A13_ENST00000416240.2_Silent_p.L399L|SLC25A13_ENST00000542654.1_Silent_p.L290L			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	398					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CAACTCCCAATAACTGTGGCA	0.353													T|||	2049	0.409145	0.2481	0.3357	5008	,	,		19178	0.6071		0.3469	False		,,,				2504	0.5389				p.L399L		Atlas-SNP	.											SLC25A13,caecum,carcinoma,0,1	SLC25A13	131	1	0			c.A1197G						PASS	.	T	,	1175,3231	412.4+/-336.1	170,835,1198	82	79	80		1197,1194	-0.1	1	7	dbSNP_100	80	2989,5611	463.7+/-366.0	520,1949,1831	no	coding-synonymous,coding-synonymous	SLC25A13	NM_001160210.1,NM_014251.2	,	690,2784,3029	CC,CT,TT		34.7558,26.6682,32.016	,	399/677,398/676	95800820	4164,8842	2203	4300	6503	SO:0001819	synonymous_variant	10165	exon12			TCCCAATAACTGT	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1194A>G	7.37:g.95800820T>C		Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	244	168	0.688525	NM_001160210	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	CCDS5645.1																																																																																			T|0.645;C|0.355	0.355	strong		0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		C	95800820	T	C	95800820	2	2	23	1	0	0	0	0	0	0	0	1	14475	1403	49	2		2	SLC25A13	7	95800820	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	854736	95800820	63337843	1928	18384										
OCM2	4951	hgsc.bcm.edu	37	chr7	97617822	97617822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacatcttggagaggcctgAcgtctggaagaatttttggg	14	6	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:97617822A>G	ENST00000257627.4	-	2	191	c.100T>C	c.(100-102)Tca>Cca	p.S34P	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	34							calcium ion binding (GO:0005509)			lung(4)	4						GAGAGGCCTGACGTCTGGAAG	0.468																																					p.S34P		Atlas-SNP	.											OCM2,NS,malignant_melanoma,+1,1	OCM2	19	1	0			c.T100C						scavenged	.						166	158	161					7																	97617822		2203	4300	6503	SO:0001583	missense	4951	exon2			GGCCTGACGTCTG	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.100T>C	7.37:g.97617822A>G	ENSP00000257627:p.Ser34Pro	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	194	2	0.0103093	NM_006188	P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	a	14.70	2.615069	0.46631	.	.	ENSG00000135175	ENST00000257627	T	0.72615	-0.67	3.98	3.98	0.46160	.	0.128899	0.52532	D	0.000075	T	0.60907	0.2305	L	0.56280	1.765	0.26955	N	0.965939	P	0.51147	0.942	B	0.38985	0.287	T	0.62506	-0.6840	10	0.72032	D	0.01	-3.2324	8.1641	0.31215	0.8203:0.0:0.0:0.1797	.	34	P0CE71	OCM2_HUMAN	P	34	ENSP00000257627:S34P	ENSP00000257627:S34P	S	-	1	0	OCM2	97455758	0.722000	0.28017	0.999000	0.59377	0.991000	0.79684	3.463000	0.53050	1.685000	0.51034	0.386000	0.25728	TCA	.	.	none		0.468	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		G	97617822	A	G	97617822	3	3	23	1	0	0	0	0	1	0	0	0	10822	275	10	2	241	2	OCM2	7	97617822	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1817002	97617822	61520841	1929	18385										
TECPR1	25851	hgsc.bcm.edu	37	chr7	97847040	97847040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccgtggcccttgggctcGtgaggctgcacgccggtgcg	17	14	0	1	rs2279676	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:97847040G>A	ENST00000447648.2	-	25	3647	c.3348C>T	c.(3346-3348)caC>caT	p.H1116H	TECPR1_ENST00000379795.3_Silent_p.H1118H			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1116					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTTGGGCTCGTGAGGCTGCA	0.667													G|||	1040	0.207668	0.2156	0.2882	5008	,	,		16670	0.2589		0.1879	False		,,,				2504	0.1074				p.H1116H		Atlas-SNP	.											TECPR1,colon,carcinoma,0,1	TECPR1	77	1	0			c.C3348T						scavenged	.	G		632,3406		41,550,1428	12	16	15		3348	-9.1	0	7	dbSNP_100	15	1048,6808		57,934,2937	no	coding-synonymous	TECPR1	NM_015395.1		98,1484,4365	AA,AG,GG		13.3401,15.6513,14.1248		1116/1166	97847040	1680,10214	2019	3928	5947	SO:0001819	synonymous_variant	25851	exon25			GGGCTCGTGAGGC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3348C>T	7.37:g.97847040G>A		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	94	67	0.712766	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			G|0.772;A|0.228	0.228	strong		0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97847040	G	A	97847040	2	1	23	1	0	0	0	0	0	0	0	1	15740	1136	40	1		1	TECPR1	7	97847040	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	229218	97847040	61291623	1930	18386										
TECPR1	25851	hgsc.bcm.edu	37	chr7	97873994	97873994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcgggaaagtcgatggcGtacgtccacccctgaaacac	13	12	0	1	rs1874344	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:97873994G>A	ENST00000447648.2	-	5	719	c.420C>T	c.(418-420)taC>taT	p.Y140Y	TECPR1_ENST00000542604.1_Silent_p.Y61Y|TECPR1_ENST00000379795.3_Silent_p.Y140Y			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	140					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTCGATGGCGTACGTCCACC	0.587													g|||	1513	0.302117	0.2126	0.3285	5008	,	,		18002	0.4534		0.2744	False		,,,				2504	0.2771				p.Y140Y		Atlas-SNP	.											TECPR1,NS,carcinoma,0,2	TECPR1	77	2	0			c.C420T						scavenged	.	A		774,3230		69,636,1297	91	96	94		420	-3.8	0.4	7	dbSNP_92	94	1969,6335		244,1481,2427	no	coding-synonymous	TECPR1	NM_015395.1		313,2117,3724	AA,AG,GG		23.7115,19.3307,22.2863		140/1166	97873994	2743,9565	2002	4152	6154	SO:0001819	synonymous_variant	25851	exon5			GATGGCGTACGTC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.420C>T	7.37:g.97873994G>A		Somatic	59	1	0.0169492		WXS	Illumina HiSeq	Phase_I	92	53	0.576087	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			G|0.696;A|0.304	0.304	strong		0.587	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97873994	G	A	97873994	2	1	23	1	0	0	0	0	0	0	0	1	15740	1140	40	1		1	TECPR1	7	97873994	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26954	97873994	61264669	1931	18387										
TRRAP	8295	hgsc.bcm.edu	37	chr7	98602800	98602800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagcacaacaccgcagccCggcggctgtacatccgggga	13	14	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:98602800C>T	ENST00000359863.4	+	68	10749	c.10540C>T	c.(10540-10542)Cgg>Tgg	p.R3514W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3503W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3485W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3514					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCGCAGCCCGGCGGCTGTA	0.587																																					p.R3514W		Atlas-SNP	.											TRRAP_ENST00000359863,NS,carcinoma,0,2	TRRAP	863	2	0			c.C10540T						scavenged	.						80	74	76					7																	98602800		2203	4300	6503	SO:0001583	missense	8295	exon68			GCAGCCCGGCGGC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10540C>T	7.37:g.98602800C>T	ENSP00000352925:p.Arg3514Trp	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	123	3	0.0243902	NM_001244580	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405411	0.62288	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.82526	-1.62;-1.62	5.53	-2.83	0.05769	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92976	0.6402	10	0.87932	D	0	.	20.0014	0.97409	0.6346:0.3654:0.0:0.0	.	3485;3242;3514	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3514;3485;3502	ENSP00000352925:R3514W;ENSP00000347733:R3485W	ENSP00000347733:R3485W	R	+	1	2	TRRAP	98440736	0.006000	0.16342	0.938000	0.37757	0.449000	0.32228	0.151000	0.16283	-0.322000	0.08615	0.491000	0.48974	CGG	.	.	none		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98602800	C	T	98602800	3	4	23	1	0	0	0	0	1	0	0	0	16598	643	23	1	10715	1	TRRAP	7	98602800	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	728806	98602800	60535863	1932	18388										
SMURF1	57154	hgsc.bcm.edu	37	chr7	98645367	98645367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcttggggctgctgaagCgacagttcgtgtctgaggac	15	10	1	2	rs559762342		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:98645367C>T	ENST00000361125.1	-	11	1489	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SMURF1_ENST00000361368.2_Silent_p.S364S|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	390					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCTGCTGAAGCGACAGTTCGT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18698	0.0		0.0	False		,,,				2504	0.001				p.S390S		Atlas-SNP	.											SMURF1,NS,carcinoma,0,1	SMURF1	58	1	0			c.G1170A						scavenged	.						128	123	125					7																	98645367		2203	4300	6503	SO:0001819	synonymous_variant	57154	exon11			CTGAAGCGACAGT	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1170G>A	7.37:g.98645367C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	163	3	0.0184049	NM_020429	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	CCDS34690.1																																																																																			.	.	none		0.542	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		T	98645367	C	T	98645367	2	4	23	1	0	0	0	0	0	0	0	1	14819	755	27	1		1	SMURF1	7	98645367	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42567	98645367	60493296	1933	18389										
ARPC1B	10095	hgsc.bcm.edu	37	chr7	98984354	98984354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggtgcatatctatgaaaaGagcggtgccaaatggaccaa	12	7	1	2	rs1045012	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:98984354G>C	ENST00000451682.1	+	5	420	c.111G>C	c.(109-111)aaG>aaC	p.K37N	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K37N|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	37			K -> N (in dbSNP:rs1045012).		Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCTATGAAAAGAGCGGTGCCA	0.577													G|||	391	0.0780751	0.1778	0.0634	5008	,	,		21294	0.0327		0.0338	False		,,,				2504	0.046				p.K37N		Atlas-SNP	.											.	ARPC1B	41	.	0			c.G111C						PASS	.	G	ASN/LYS	688,3718	289.8+/-280.6	46,596,1561	186	161	169		111	5.2	1	7	dbSNP_86	169	359,8241	119.9+/-179.2	11,337,3952	yes	missense	ARPC1B	NM_005720.3	94	57,933,5513	CC,CG,GG		4.1744,15.6151,8.0501	benign	37/373	98984354	1047,11959	2203	4300	6503	SO:0001583	missense	10095	exon3			TGAAAAGAGCGGT	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.111G>C	7.37:g.98984354G>C	ENSP00000389631:p.Lys37Asn	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	156	67	0.429487	NM_005720	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	145	0.06639194139194139	70	0.14227642276422764	30	0.08287292817679558	18	0.03146853146853147	27	0.03562005277044855	G	12.54	1.969222	0.34754	0.156151	0.041744	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049416	0.85682	D	0.000000	T	0.00784	0.0026	M	0.81239	2.535	0.20403	P	0.9999050461	D;D	0.64830	0.994;0.994	D;D	0.64776	0.929;0.929	T	0.33163	-0.9879	9	0.24483	T	0.36	-37.4929	12.4073	0.55447	0.0777:0.0:0.9223:0.0	rs1045012;rs3174603;rs10341021;rs11556756;rs1045012	37;37	A4D275;O15143	.;ARC1B_HUMAN	N	37	ENSP00000413173:K37N;ENSP00000398620:K37N;ENSP00000252725:K37N;ENSP00000410238:K37N;ENSP00000413067:K37N;ENSP00000403324:K37N;ENSP00000398110:K37N;ENSP00000403211:K37N;ENSP00000388802:K37N;ENSP00000389631:K37N	ENSP00000252725:K37N	K	+	3	2	ARPC1B	98822290	1.000000	0.71417	0.996000	0.52242	0.069000	0.16628	1.437000	0.34991	2.577000	0.86979	0.561000	0.74099	AAG	G|0.926;C|0.074	0.074	strong		0.577	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		C	98984354	G	C	98984354	3	2	23	1	0	0	0	0	1	0	0	0	970	933	33	4	117	4	ARPC1B	7	98984354	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	338987	98984354	60154309	1934	18390										
PTCD1	26024	hgsc.bcm.edu	37	chr7	99032517	99032517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccatttgctcatctctccGttccccaaaccgcaggttat	5	15	2	0	rs34943973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99032517G>A	ENST00000292478.4	-	2	599	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R166W|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.R166W	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	117					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)			TCATCTCTCCGTTCCCCAAAC	0.542													G|||	214	0.0427316	0.0545	0.0519	5008	,	,		19132	0.0327		0.0308	False		,,,				2504	0.0429				p.R166W		Atlas-SNP	.											.	.	.	.	0			c.C496T						PASS	.	G	TRP/ARG,TRP/ARG	210,4196	130.2+/-166.9	4,202,1997	147	155	152		496,349	4.8	0.3	7	dbSNP_126	152	344,8256	117.7+/-177.3	9,326,3965	yes	missense,missense	PTCD1,ATP5J2-PTCD1	NM_001198879.1,NM_015545.3	101,101	13,528,5962	AA,AG,GG		4.0,4.7662,4.2596	benign,benign	166/750,117/701	99032517	554,12452	2203	4300	6503	SO:0001583	missense	100526740	exon3			CTCTCCGTTCCCC	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.349C>T	7.37:g.99032517G>A	ENSP00000292478:p.Arg117Trp	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	280	120	0.428571	NM_001198879	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	84	0.038461538461538464	19	0.03861788617886179	23	0.06353591160220995	18	0.03146853146853147	24	0.0316622691292876	G	9.519	1.107845	0.20714	0.047662	0.04	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000413834	T;T;D;D;T	0.83250	-0.16;-0.15;-1.7;-1.7;-0.15	5.86	4.8	0.61643	.	0.540484	0.20400	N	0.093068	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	P;P	0.45078	0.85;0.519	B;B	0.40782	0.34;0.083	T	0.42649	-0.9439	10	0.37606	T	0.19	-19.6274	6.8271	0.23889	0.0749:0.2175:0.5906:0.117	rs34943973	166;117	G3V325;O75127	.;PTCD1_HUMAN	W	117;166;117;117;166	ENSP00000292478:R117W;ENSP00000450995:R166W;ENSP00000390530:R117W;ENSP00000408059:R117W;ENSP00000400168:R166W	ENSP00000400168:R166W	R	-	1	2	ATP5J2-PTCD1;PTCD1	98870453	0.147000	0.22687	0.252000	0.24328	0.024000	0.10985	2.623000	0.46435	2.766000	0.95052	0.655000	0.94253	CGG	G|0.958;A|0.042	0.042	strong		0.542	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99032517	G	A	99032517	3	1	23	1	0	0	0	0	1	0	0	0	12727	1144	40	1	1781	1	PTCD1	7	99032517	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	48163	99032517	60106146	1935	18391										
CPSF4	10898	hgsc.bcm.edu	37	chr7	99047978	99047978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactgtccttggtatgaccgTggcttctgcaagcacggtag	13	10	1	1	rs883403	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99047978T>C	ENST00000292476.5	+	4	397	c.387T>C	c.(385-387)cgT>cgC	p.R129R	CPSF4_ENST00000441580.1_Silent_p.R76R|CPSF4_ENST00000451876.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Silent_p.R129R|CPSF4_ENST00000471455.1_3'UTR			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	129					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	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)					GGTATGACCGTGGCTTCTGCA	0.617													C|||	2277	0.454673	0.9054	0.2824	5008	,	,		19251	0.3403		0.165	False		,,,				2504	0.3834				p.R129R		Atlas-SNP	.											.	CPSF4	24	.	0			c.T387C						PASS	.	C	,,	3396,1010	375.1+/-321.5	1304,788,111	69	59	62		387,,387	-11.7	0.3	7	dbSNP_86	62	1238,7362	761.7+/-407.6	102,1034,3164	no	coding-synonymous,intron,coding-synonymous	CPSF4,ATP5J2-PTCD1	NM_001081559.1,NM_001198879.1,NM_006693.2	,,	1406,1822,3275	CC,CT,TT		14.3953,22.9233,35.6297	,,	129/245,,129/270	99047978	4634,8372	2203	4300	6503	SO:0001819	synonymous_variant	10898	exon4			TGACCGTGGCTTC		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.387T>C	7.37:g.99047978T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	160	47	0.29375	NM_001081559	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	CCDS5664.1	858	0.39285714285714285	428	0.8699186991869918	112	0.30939226519337015	192	0.3356643356643357	126	0.1662269129287599	C	9.966	1.224022	0.22457	0.770767	0.143953	ENSG00000160917	ENST00000440514	.	.	.	5.93	-11.7	0.00046	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999811	.	.	.	.	.	.	T	0.23190	-1.0195	3	.	.	.	-8.6058	5.2076	0.15299	0.1613:0.3878:0.0609:0.39	rs883403;rs11539768;rs17854666;rs57853370;rs883403	.	.	.	R	11	.	.	W	+	1	0	CPSF4	98885914	0.000000	0.05858	0.280000	0.24747	0.974000	0.67602	-1.672000	0.01952	-2.308000	0.00652	-0.733000	0.03571	TGG	T|0.639;C|0.361	0.361	strong		0.617	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			C	99047978	T	C	99047978	2	2	23	1	0	0	0	0	0	0	0	1	3828	1683	59	2		2	CPSF4	7	99047978	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	15461	99047978	60090685	1936	18392										
CPSF4	10898	hgsc.bcm.edu	37	chr7	99050039	99050039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgagcagcccccactgccGcagcagacacagcctccagc	9	20	0	1	rs17854665	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99050039G>A	ENST00000292476.5	+	6	556	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CPSF4_ENST00000441580.1_Silent_p.P129P|CPSF4_ENST00000451876.1_Silent_p.P150P|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Silent_p.P182P|CPSF4_ENST00000471455.1_3'UTR			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	182					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	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)					CCCCACTGCCGCAGCAGACAC	0.607													G|||	461	0.0920527	0.2352	0.0648	5008	,	,		19334	0.0317		0.0308	False		,,,				2504	0.0429				p.P182P		Atlas-SNP	.											.	CPSF4	24	.	0			c.G546A						PASS	.	G	,,	846,3560	332.5+/-302.5	79,688,1436	117	121	119		546,,546	-11.4	0.3	7	dbSNP_123	119	351,8249	118.6+/-178.1	9,333,3958	no	coding-synonymous,intron,coding-synonymous	CPSF4,ATP5J2-PTCD1	NM_001081559.1,NM_001198879.1,NM_006693.2	,,	88,1021,5394	AA,AG,GG		4.0814,19.2011,9.2034	,,	182/245,,182/270	99050039	1197,11809	2203	4300	6503	SO:0001819	synonymous_variant	10898	exon6			ACTGCCGCAGCAG		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.546G>A	7.37:g.99050039G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	99	37	0.373737	NM_001081559	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	CCDS5664.1	178|178	0.0815018315018315|0.0815018315018315	107|107	0.21747967479674796|0.21747967479674796	30|30	0.08287292817679558|0.08287292817679558	17|17	0.02972027972027972|0.02972027972027972	24|24	0.0316622691292876|0.0316622691292876	G|G	16.75|16.75	3.209745|3.209745	0.58343|0.58343	0.192011|0.192011	0.040814|0.040814	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000452047	.|T	.|0.33438	.|1.41	5.71|5.71	-11.4|-11.4	0.00090|0.00090	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	0.9999999999989511|0.9999999999989511	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.10314|0.10314	-1.0635|-1.0635	3|4	.|.	.|.	.|.	-11.2942|-11.2942	5.2709|5.2709	0.15624|0.15624	0.6014:0.1406:0.145:0.113|0.6014:0.1406:0.145:0.113	rs17854665;rs60730079;rs17854665|rs17854665;rs60730079;rs17854665	.|.	.|.	.|.	T|H	64|118	.|ENSP00000392584:R118H	.|.	A|R	+|+	1|2	0|0	CPSF4|CPSF4	98887975|98887975	0.107000|0.107000	0.21998|0.21998	0.299000|0.299000	0.25016|0.25016	0.966000|0.966000	0.64601|0.64601	-0.743000|-0.743000	0.04845|0.04845	-2.112000|-2.112000	0.00835|0.00835	-1.202000|-1.202000	0.01658|0.01658	GCA|CGC	G|0.909;A|0.091	0.091	strong		0.607	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			A	99050039	G	A	99050039	2	1	23	1	0	0	0	0	0	0	0	1	3828	1074	38	1		1	CPSF4	7	99050039	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2061	99050039	60088624	1937	18393										
ZNF394	84124	hgsc.bcm.edu	37	chr7	99091599	99091599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacatttcagacaggtgtaCggcttctcgcctgtgtgtgt	11	11	2	1	rs78336331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99091599C>T	ENST00000337673.6	-	3	1442	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	413					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					GACAGGTGTACGGCTTCTCGC	0.493													C|||	96	0.0191693	0.0008	0.0303	5008	,	,		19826	0.0327		0.008	False		,,,				2504	0.0337				p.P413P	Ovarian(24;589 697 9939 12704 40742)	Atlas-SNP	.											ZNF394,NS,carcinoma,-1,1	ZNF394	48	1	0			c.G1239A						PASS	.	C		21,4385	28.1+/-56.4	0,21,2182	100	101	101		1239	-7.1	0	7	dbSNP_132	101	135,8465	68.7+/-131.2	2,131,4167	no	coding-synonymous	ZNF394	NM_032164.2		2,152,6349	TT,TC,CC		1.5698,0.4766,1.1994		413/562	99091599	156,12850	2203	4300	6503	SO:0001819	synonymous_variant	84124	exon3			GGTGTACGGCTTC	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1239G>A	7.37:g.99091599C>T		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	293	105	0.358362	NM_032164	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	CCDS5666.1																																																																																			C|0.986;T|0.014	0.014	strong		0.493	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		T	99091599	C	T	99091599	2	4	23	1	0	0	0	0	0	0	0	1	17877	523	19	1		1	ZNF394	7	99091599	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41560	99091599	60047064	1938	18394										
ZKSCAN5	23660	hgsc.bcm.edu	37	chr7	99128904	99128904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagaaagcagggaattcccAtgaaagagatactaggacaa	10	6	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99128904A>G	ENST00000394170.2	+	7	1803	c.1552A>G	c.(1552-1554)Atg>Gtg	p.M518V	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.M518V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.M518V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					GGGAATTCCCATGAAAGAGAT	0.413																																					p.M518V		Atlas-SNP	.											ZKSCAN5,colon,carcinoma,-1,1	ZKSCAN5	63	1	0			c.A1552G						scavenged	.						101	104	103					7																	99128904		2203	4300	6503	SO:0001583	missense	23660	exon7			ATTCCCATGAAAG	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1552A>G	7.37:g.99128904A>G	ENSP00000377725:p.Met518Val	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	249	4	0.0160643	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.467276	0.01053	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06933	3.24;3.24;3.24	5.06	2.65	0.31530	.	0.280453	0.32081	N	0.006616	T	0.04003	0.0112	N	0.08118	0	0.24609	N	0.993733	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35151	-0.9800	10	0.66056	D	0.02	.	5.454	0.16580	0.7356:0.1747:0.0898:0.0	.	518;518	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	V	518	ENSP00000322872:M518V;ENSP00000392104:M518V;ENSP00000377725:M518V	ENSP00000322872:M518V	M	+	1	0	ZKSCAN5	98966840	0.138000	0.22547	0.828000	0.32881	0.794000	0.44872	0.809000	0.27168	0.480000	0.27534	0.383000	0.25322	ATG	.	.	none		0.413	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		G	99128904	A	G	99128904	3	3	23	1	0	0	0	0	1	0	0	0	17687	217	8	2	1574	2	ZKSCAN5	7	99128904	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	37305	99128904	60009759	1939	18395										
ZKSCAN5	23660	hgsc.bcm.edu	37	chr7	99129744	99129744	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagagaatccatactggtGagaaaccttttcaatgtaaa	7	7	2	2	rs150395462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99129744G>C	ENST00000394170.2	+	7	2643	c.2392G>C	c.(2392-2394)Gag>Cag	p.E798Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E798Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E798Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					CCATACTGGTGAGAAACCTTT	0.398													G|||	4	0.000798722	0.0	0.0014	5008	,	,		20675	0.0		0.003	False		,,,				2504	0.0				p.E798Q		Atlas-SNP	.											.	ZKSCAN5	63	.	0			c.G2392C						PASS	.	G	GLN/GLU,GLN/GLU	5,4401	11.4+/-27.6	0,5,2198	85	91	89		2392,2392	5	1	7	dbSNP_134	89	61,8539	38.8+/-94.9	1,59,4240	yes	missense,missense	ZKSCAN5	NM_014569.3,NM_145102.2	29,29	1,64,6438	CC,CG,GG		0.7093,0.1135,0.5075	probably-damaging,probably-damaging	798/840,798/840	99129744	66,12940	2203	4300	6503	SO:0001583	missense	23660	exon7			ACTGGTGAGAAAC	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2392G>C	7.37:g.99129744G>C	ENSP00000377725:p.Glu798Gln	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	100	54	0.54	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	23.4	4.411517	0.83340	0.001135	0.007093	ENSG00000196652	ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.25912	1.77;1.77;1.77	5.03	5.03	0.67393	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.116325	0.38720	N	0.001586	T	0.42177	0.1191	M	0.70595	2.14	0.50171	D	0.99985	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.971	T	0.45556	-0.9253	10	0.72032	D	0.01	.	16.2692	0.82607	0.0:0.0:1.0:0.0	.	798;798	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	Q	798	ENSP00000322872:E798Q;ENSP00000392104:E798Q;ENSP00000377725:E798Q	ENSP00000322872:E798Q	E	+	1	0	ZKSCAN5	98967680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.485000	0.66850	2.782000	0.95742	0.655000	0.94253	GAG	G|0.996;C|0.004	0.004	strong		0.398	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		C	99129744	G	C	99129744	3	2	23	1	0	0	0	0	1	0	0	0	17687	1291	45	4	2414	4	ZKSCAN5	7	99129744	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	840	99129744	60008919	1940	18396										
FAM200A	221786	hgsc.bcm.edu	37	chr7	99145845	99145845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgcaactaaatacgatgaCaataaggctctctcattcat	5	9	3	1	rs10238965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99145845C>T	ENST00000449309.1	-	2	565	c.186G>A	c.(184-186)ttG>ttA	p.L62L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	62						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						aatacgatgacaataaggctc	0.403													T|||	2314	0.462061	0.9342	0.2853	5008	,	,		22164	0.3353		0.165	False		,,,				2504	0.3855				p.L62L		Atlas-SNP	.											.	FAM200A	27	.	0			c.G186A						PASS	.	T		3473,929		1369,735,97	117	111	113		186	-4.1	0	7	dbSNP_119	113	1235,7361		102,1031,3165	no	coding-synonymous	FAM200A	NM_145111.3		1471,1766,3262	TT,TC,CC		14.3671,21.104,36.221		62/574	99145845	4708,8290	2201	4298	6499	SO:0001819	synonymous_variant	221786	exon2			CGATGACAATAAG		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.186G>A	7.37:g.99145845C>T		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	384	135	0.351562	NM_145111	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	CCDS5668.1																																																																																			C|0.566;T|0.434	0.434	strong		0.403	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		T	99145845	C	T	99145845	2	4	23	1	0	0	0	0	0	0	0	1	5536	477	17	2		2	FAM200A	7	99145845	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16101	99145845	59992818	1941	18397										
ZNF498	221785	hgsc.bcm.edu	37	chr7	99217424	99217424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcttagggagctccaggaGctctgtcgtcggtggctgag	16	10	2	1	rs10282706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99217424G>A	ENST00000394152.2	+	4	522	c.195G>A	c.(193-195)gaG>gaA	p.E65E	ZSCAN25_ENST00000334715.3_Silent_p.E65E|ZSCAN25_ENST00000262941.6_Silent_p.E65E|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	65	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										AGCTCCAGGAGCTCTGTCGTC	0.612													A|||	1722	0.34385	0.6914	0.1916	5008	,	,		18685	0.2817		0.0596	False		,,,				2504	0.3384				p.E65E		Atlas-SNP	.											.	.	.	.	0			c.G195A						PASS	.	A		2514,1892	542.5+/-376.0	714,1086,403	71	79	77		195	-0.9	1	7	dbSNP_119	77	674,7926	788.3+/-407.6	32,610,3658	no	coding-synonymous	ZNF498	NM_145115.2		746,1696,4061	AA,AG,GG		7.8372,42.9414,24.5118		65/545	99217424	3188,9818	2203	4300	6503	SO:0001819	synonymous_variant	221785	exon4			CCAGGAGCTCTGT	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.195G>A	7.37:g.99217424G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	122	43	0.352459	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	CCDS5671.2																																																																																			G|0.735;A|0.265	0.265	strong		0.612	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		A	99217424	G	A	99217424	2	1	23	1	0	0	0	0	0	0	0	1	17944	962	34	2		2	ZNF498	7	99217424	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	71579	99217424	59921239	1942	18398										
TRIM4	89122	hgsc.bcm.edu	37	chr7	99489868	99489868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccggaggcgtgagacagaaGaacaagaaaaggtgtgcagg	17	6	0	4	rs33998596	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99489868G>C	ENST00000355947.2	-	7	1550	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	TRIM4_ENST00000349062.2_Missense_Mutation_p.S448C	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	474	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		S -> C (in dbSNP:rs33998596).		protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TGAGACAGAAGAACAAGAAAA	0.517													G|||	237	0.0473243	0.0681	0.0403	5008	,	,		21310	0.002		0.0577	False		,,,				2504	0.0603				p.S474C		Atlas-SNP	.											.	TRIM4	33	.	0			c.C1421G						PASS	.	G	CYS/SER,CYS/SER	284,4122	157.4+/-190.3	15,254,1934	115	110	112		1421,1343	0.7	0	7	dbSNP_126	112	618,7982	161.4+/-214.4	18,582,3700	yes	missense,missense	TRIM4	NM_033017.3,NM_033091.2	112,112	33,836,5634	CC,CG,GG		7.186,6.4458,6.9353	possibly-damaging,possibly-damaging	474/501,448/475	99489868	902,12104	2203	4300	6503	SO:0001583	missense	89122	exon7			ACAGAAGAACAAG	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1421C>G	7.37:g.99489868G>C	ENSP00000348216:p.Ser474Cys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	42	21	0.5	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	89	0.04075091575091575	29	0.05894308943089431	13	0.03591160220994475	2	0.0034965034965034965	45	0.059366754617414245	G	9.995	1.231779	0.22626	0.064458	0.07186	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.70749	-0.51;-0.51	2.64	0.724	0.18236	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.08403	0.0209	L	0.36672	1.1	0.09310	N	1	B;B	0.25351	0.102;0.124	B;B	0.19391	0.015;0.025	T	0.04767	-1.0928	9	0.33141	T	0.24	.	6.5013	0.22170	0.0:0.1971:0.6012:0.2017	rs33998596	448;474	Q9C037-2;Q9C037	.;TRIM4_HUMAN	C	474;448;304	ENSP00000348216:S474C;ENSP00000275736:S448C	ENSP00000275736:S448C	S	-	2	0	TRIM4	99327804	0.000000	0.05858	0.002000	0.10522	0.411000	0.31082	0.485000	0.22324	0.181000	0.19994	0.655000	0.94253	TCT	G|0.943;C|0.057	0.057	strong		0.517	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		C	99489868	G	C	99489868	3	2	23	1	0	0	0	0	1	0	0	0	16511	942	33	4	85	4	TRIM4	7	99489868	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	272444	99489868	59648795	1943	18399										
TRIM4	89122	hgsc.bcm.edu	37	chr7	99490190	99490190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttttcccagaacacaggGtaagtgctgaaatctctcta	8	9	2	2	rs35432946	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99490190G>A	ENST00000355947.2	-	7	1228	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TRIM4_ENST00000349062.2_Missense_Mutation_p.P341S	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		P -> S (in dbSNP:rs35432946).		protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGAACACAGGGTAAGTGCTGA	0.468													G|||	242	0.0483227	0.0711	0.0418	5008	,	,		21802	0.002		0.0577	False		,,,				2504	0.0603				p.P367S		Atlas-SNP	.											.	TRIM4	33	.	0			c.C1099T						PASS	.	G	SER/PRO,SER/PRO	300,4106	162.5+/-194.5	16,268,1919	108	103	105		1099,1021	2.4	1	7	dbSNP_126	105	618,7982	161.0+/-214.0	18,582,3700	yes	missense,missense	TRIM4	NM_033017.3,NM_033091.2	74,74	34,850,5619	AA,AG,GG		7.186,6.8089,7.0583	probably-damaging,probably-damaging	367/501,341/475	99490190	918,12088	2203	4300	6503	SO:0001583	missense	89122	exon7			CACAGGGTAAGTG	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1099C>T	7.37:g.99490190G>A	ENSP00000348216:p.Pro367Ser	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	186	59	0.317204	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	91	0.041666666666666664	30	0.06097560975609756	14	0.03867403314917127	2	0.0034965034965034965	45	0.059366754617414245	G	15.87	2.959568	0.53400	0.068089	0.07186	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.62232	0.04;0.04	2.42	2.42	0.29668	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.17152	0.0412	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.68943	0.961;0.915	T	0.49818	-0.8899	9	0.48119	T	0.1	.	7.2255	0.26012	0.0:0.2787:0.7213:0.0	rs35432946	341;367	Q9C037-2;Q9C037	.;TRIM4_HUMAN	S	367;341;197	ENSP00000348216:P367S;ENSP00000275736:P341S	ENSP00000275736:P341S	P	-	1	0	TRIM4	99328126	0.001000	0.12720	0.986000	0.45419	0.844000	0.47949	0.272000	0.18644	1.689000	0.51079	0.655000	0.94253	CCC	G|0.942;A|0.058	0.058	strong		0.468	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99490190	G	A	99490190	3	1	23	1	0	0	0	0	1	0	0	0	16511	1261	44	2	407	2	TRIM4	7	99490190	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	322	99490190	59648473	1944	18400										
STAG3	10734	hgsc.bcm.edu	37	chr7	99778285	99778285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgacagggactcaaaccatAcctcagaggggtaagtagat	11	8	2	3	rs2272343	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99778285A>C	ENST00000426455.1	+	2	513	c.106A>C	c.(106-108)Acc>Ccc	p.T36P	STAG3_ENST00000317296.5_Missense_Mutation_p.T36P|STAG3_ENST00000394018.2_Missense_Mutation_p.T36P	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	36					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.T36P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAAACCATACCTCAGAGGG	0.517													A|||	530	0.105831	0.0295	0.1081	5008	,	,		20339	0.0595		0.2296	False		,,,				2504	0.1278				p.T36P		Atlas-SNP	.											STAG3,NS,carcinoma,0,1	STAG3	121	1	1	Substitution - Missense(1)	stomach(1)	c.A106C						PASS	.	A	PRO/THR	309,4097	164.7+/-196.3	11,287,1905	139	123	128		106	-4.8	0	7	dbSNP_100	128	2016,6584	350.0+/-327.7	235,1546,2519	yes	missense	STAG3	NM_012447.2	38	246,1833,4424	CC,CA,AA		23.4419,7.0132,17.8764	benign	36/1226	99778285	2325,10681	2203	4300	6503	SO:0001583	missense	10734	exon2			AACCATACCTCAG	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.106A>C	7.37:g.99778285A>C	ENSP00000400359:p.Thr36Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	122	36	0.295082	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	264	0.12087912087912088	19	0.03861788617886179	34	0.09392265193370165	32	0.055944055944055944	179	0.23614775725593667	A	13.78	2.339174	0.41398	0.070132	0.234419	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.26660	1.9;1.72;1.9	4.56	-4.79	0.03200	.	2.141280	0.02215	N	0.063490	T	0.00012	0.0000	L	0.53249	1.67	0.80722	P	0.0	P;B	0.37864	0.61;0.0	B;B	0.26517	0.07;0.0	T	0.19844	-1.0293	9	0.30854	T	0.27	0.7833	12.7389	0.57239	0.3537:0.0:0.6463:0.0	rs2272343;rs11536559	36;36	B4DZ10;Q9UJ98	.;STAG3_HUMAN	P	36	ENSP00000400359:T36P;ENSP00000377586:T36P;ENSP00000319318:T36P	ENSP00000319318:T36P	T	+	1	0	STAG3	99616221	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-1.170000	0.03118	-0.790000	0.04492	0.260000	0.18958	ACC	A|0.837;C|0.163	0.163	strong		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		C	99778285	A	C	99778285	3	2	23	1	0	0	0	0	1	0	0	0	15243	391	14	5	108	5	STAG3	7	99778285	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	288095	99778285	59360378	1945	18401										
PVRIG	79037	hgsc.bcm.edu	37	chr7	99817585	99817585	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccccagaacctggactgGagggggccatggggcaccgg	17	13	0	1	rs7786505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:99817585G>T	ENST00000317271.2	+	2	415	c.52G>T	c.(52-54)Gag>Tag	p.E18*	AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	18						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCTGGACTGGAGGGGGCCAT	0.647													G|||	772	0.154153	0.205	0.1225	5008	,	,		18246	0.0605		0.2276	False		,,,				2504	0.1288				p.E18X		Atlas-SNP	.											.	PVRIG	20	.	0			c.G52T						PASS	.	G	stop/GLU,	918,3482		106,706,1388	21	21	21		52,	-3.1	0	7	dbSNP_116	21	1974,6612		236,1502,2555	no	stop-gained,intron	PVRIG,GATS	NM_024070.3,NM_178831.6	,	342,2208,3943	TT,TG,GG		22.9909,20.8636,22.2701	,	18/327,	99817585	2892,10094	2200	4293	6493	SO:0001587	stop_gained	79037	exon2			GGACTGGAGGGGG	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.52G>T	7.37:g.99817585G>T	ENSP00000316675:p.Glu18*	Somatic	296	1	0.00337838		WXS	Illumina HiSeq	Phase_I	379	146	0.385224	NM_024070	D6W5U9|Q9BVK3	Nonsense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	346	0.15842490842490842	99	0.20121951219512196	37	0.10220994475138122	33	0.057692307692307696	177	0.23350923482849603	g	14.41	2.527143	0.44969	0.208636	0.229909	ENSG00000213413	ENST00000317271	.	.	.	1.54	-3.09	0.05331	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.99999999580667	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.5359	0.07794	0.3015:0.2419:0.4566:0.0	rs7786505;rs11553413;rs60522857	.	.	.	X	18	.	ENSP00000316675:E18X	E	+	1	0	PVRIG	99655521	0.000000	0.05858	0.010000	0.14722	0.019000	0.09904	0.235000	0.17948	-1.041000	0.03266	0.423000	0.28283	GAG	G|0.814;T|0.186	0.186	strong		0.647	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		T	99817585	G	T	99817585	4	4	23	1	0	0	0	0	0	1	0	0	12838	1175	41	4	54	4	PVRIG	7	99817585	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39300	99817585	59321078	1946	18402										
PCOLCE	5118	hgsc.bcm.edu	37	chr7	100205706	100205706	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccctctcaacctgtgcggGctgctgcgtcccaggactga	12	16	1	1	rs61739556	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100205706G>C	ENST00000223061.5	+	9	1610	c.1330G>C	c.(1330-1332)Gct>Cct	p.A444P		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	444					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTGTGCGGGCTGCTGCGTC	0.572													G|||	22	0.00439297	0.0008	0.0043	5008	,	,		15040	0.0		0.0119	False		,,,				2504	0.0061				p.A444P		Atlas-SNP	.											.	PCOLCE	37	.	0			c.G1330C						PASS	.	G	PRO/ALA	12,4394	19.1+/-41.9	0,12,2191	34	39	37		1330	2.5	0	7	dbSNP_129	37	129,8471	56.8+/-118.0	1,127,4172	no	missense	PCOLCE	NM_002593.3	27	1,139,6363	CC,CG,GG		1.5,0.2724,1.0841	probably-damaging	444/450	100205706	141,12865	2203	4300	6503	SO:0001583	missense	5118	exon9			GTGCGGGCTGCTG	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1330G>C	7.37:g.100205706G>C	ENSP00000223061:p.Ala444Pro	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	86	28	0.325581	NM_002593	B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	CCDS5700.1	14	0.00641025641025641	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	G	15.79	2.937936	0.52972	0.002724	0.015	ENSG00000106333	ENST00000223061	T	0.24723	1.84	4.31	2.47	0.30058	.	0.335919	0.21418	N	0.074877	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.19484	-1.0304	10	0.56958	D	0.05	-1.0701	7.9729	0.30138	0.0943:0.1628:0.7429:0.0	rs61739556	444	Q15113	PCOC1_HUMAN	P	444	ENSP00000223061:A444P	ENSP00000223061:A444P	A	+	1	0	PCOLCE	100043642	0.957000	0.32711	0.003000	0.11579	0.099000	0.18886	1.804000	0.38873	0.521000	0.28445	0.462000	0.41574	GCT	G|0.992;C|0.008	0.008	strong		0.572	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		C	100205706	G	C	100205706	3	2	23	1	0	0	0	0	1	0	0	0	11594	1203	42	4	1364	4	PCOLCE	7	100205706	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	388121	100205706	58932957	1947	18403										
TRIP6	7205	hgsc.bcm.edu	37	chr7	100465747	100465747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggggctccctgcagacagGgggggccttcgccctggaag	17	13	0	1	rs139351872	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100465747G>T	ENST00000200457.4	+	3	615	c.255G>T	c.(253-255)agG>agT	p.R85S		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	85					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCAGACAGGGGGGGCCTTC	0.647													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		15814	0.0		0.001	False		,,,				2504	0.0				p.R85S		Atlas-SNP	.											.	TRIP6	45	.	0			c.G255T						PASS	.	G	SER/ARG	2,4404	4.2+/-10.8	0,2,2201	40	45	43		255	-0.6	0	7	dbSNP_134	43	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TRIP6	NM_003302.2	110	0,8,6495	TT,TG,GG		0.0698,0.0454,0.0615	probably-damaging	85/477	100465747	8,12998	2203	4300	6503	SO:0001583	missense	7205	exon3			AGACAGGGGGGGC	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.255G>T	7.37:g.100465747G>T	ENSP00000200457:p.Arg85Ser	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	212	71	0.334906	NM_003302	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	CCDS5708.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	7.094	0.572692	0.13623	4.54E-4	6.98E-4	ENSG00000087077	ENST00000200457	T	0.62364	0.03	4.67	-0.581	0.11713	.	0.120807	0.53938	D	0.000055	T	0.51210	0.1661	L	0.47716	1.5	0.23101	N	0.998297	P	0.47762	0.9	P	0.44518	0.452	T	0.49113	-0.8973	10	0.35671	T	0.21	.	7.89	0.29672	0.5076:0.0:0.4924:0.0	.	85	Q15654	TRIP6_HUMAN	S	85	ENSP00000200457:R85S	ENSP00000200457:R85S	R	+	3	2	TRIP6	100303683	0.884000	0.30299	0.018000	0.16275	0.003000	0.03518	0.211000	0.17474	-0.471000	0.06891	-1.022000	0.02435	AGG	C|0.000;G|0.999;T|0.001	0.001	strong		0.647	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		T	100465747	G	T	100465747	3	4	23	1	0	0	0	0	1	0	0	0	16556	1223	43	4	265	4	TRIP6	7	100465747	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	260041	100465747	58672916	1948	18404										
TRIP6	7205	hgsc.bcm.edu	37	chr7	100465824	100465824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccgagctgaatgggggtcGgggtcatgcgtcacggcgac	19	10	2	1	rs2437100	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100465824G>A	ENST00000200457.4	+	3	692	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	111			R -> Q (in dbSNP:rs2437100). {ECO:0000269|PubMed:15489334}.		focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGGGGTCGGGGTCATGCG	0.672													G|||	32	0.00638978	0.0008	0.0058	5008	,	,		14361	0.0		0.0268	False		,,,				2504	0.0				p.R111Q		Atlas-SNP	.											.	TRIP6	45	.	0			c.G332A						PASS	.	G	GLN/ARG	21,4385	29.0+/-57.7	0,21,2182	41	41	41		332	4.5	0.8	7	dbSNP_100	41	176,8424	80.6+/-143.3	1,174,4125	yes	missense	TRIP6	NM_003302.2	43	1,195,6307	AA,AG,GG		2.0465,0.4766,1.5147	probably-damaging	111/477	100465824	197,12809	2203	4300	6503	SO:0001583	missense	7205	exon3			GGGGTCGGGGTCA	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.332G>A	7.37:g.100465824G>A	ENSP00000200457:p.Arg111Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	105	73	0.695238	NM_003302	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	CCDS5708.1	26	0.011904761904761904	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	23	0.030343007915567283	G	18.42	3.619897	0.66787	0.004766	0.020465	ENSG00000087077	ENST00000200457	T	0.59502	0.26	4.53	4.53	0.55603	.	0.374538	0.26931	N	0.021774	T	0.33089	0.0851	L	0.47716	1.5	0.28405	N	0.918477	D	0.69078	0.997	P	0.53518	0.728	T	0.40646	-0.9552	10	0.11794	T	0.64	.	12.7393	0.57241	0.0:0.0:1.0:0.0	rs2437100	111	Q15654	TRIP6_HUMAN	Q	111	ENSP00000200457:R111Q	ENSP00000200457:R111Q	R	+	2	0	TRIP6	100303760	0.997000	0.39634	0.757000	0.31301	0.054000	0.15201	3.870000	0.56070	2.074000	0.62210	0.455000	0.32223	CGG	G|0.985;A|0.015	0.015	strong		0.672	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		A	100465824	G	A	100465824	3	1	23	1	0	0	0	0	1	0	0	0	16556	1116	39	1	342	1	TRIP6	7	100465824	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	77	100465824	58672839	1949	18405										
MUC17	140453	hgsc.bcm.edu	37	chr7	100675376	100675376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatgcctgccagcaccatgAaggtggccagttcagaggct	13	11	1	2	rs10229731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100675376A>C	ENST00000306151.4	+	3	743	c.679A>C	c.(679-681)Aag>Cag	p.K227Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	227	59 X approximate tandem repeats.|Ser-rich.		K -> Q (in dbSNP:rs10229731).		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)					CAGCACCATGAAGGTGGCCAG	0.478													C|||	1179	0.235423	0.3396	0.1009	5008	,	,		23835	0.254		0.1213	False		,,,				2504	0.2883				p.K227Q		Atlas-SNP	.											.	MUC17	804	.	0			c.A679C						PASS	.	C	GLN/LYS	1330,3076	695.0+/-405.9	209,912,1082	174	177	176		679	-0.6	0	7	dbSNP_119	176	998,7602	773.4+/-407.7	56,886,3358	yes	missense	MUC17	NM_001040105.1	53	265,1798,4440	CC,CA,AA		11.6047,30.1861,17.8994	benign	227/4494	100675376	2328,10678	2203	4300	6503	SO:0001583	missense	140453	exon3			ACCATGAAGGTGG	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.679A>C	7.37:g.100675376A>C	ENSP00000302716:p.Lys227Gln	Somatic	126	1	0.00793651		WXS	Illumina HiSeq	Phase_I	210	206	0.980952	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	411	0.18818681318681318	142	0.2886178861788618	41	0.1132596685082873	139	0.243006993006993	89	0.11741424802110818	C	0.851	-0.738688	0.03111	0.301861	0.116047	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.533	-0.628	0.11537	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15719	0.014	B	0.01281	0.0	T	0.42155	-0.9468	7	0.13470	T	0.59	.	.	.	.	rs10229731;rs52834675;rs59400468;rs10229731	227	Q685J3	MUC17_HUMAN	Q	227	ENSP00000302716:K227Q	ENSP00000302716:K227Q	K	+	1	0	MUC17	100462096	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-4.063000	0.00302	-1.118000	0.02961	-1.116000	0.02052	AAG	A|0.825;C|0.175	0.175	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100675376	A	C	100675376	3	2	23	1	0	0	0	0	1	0	0	0	9974	247	9	5	689	5	MUC17	7	100675376	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	209552	100675376	58463287	1950	18406			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100676409	100676409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctagtgaaggaagcactcCattaacaaacatgcctgtca	7	11	1	1	rs34834039	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100676409C>T	ENST00000306151.4	+	3	1776	c.1712C>T	c.(1711-1713)cCa>cTa	p.P571L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	571	59 X approximate tandem repeats.|Ser-rich.		P -> L (in dbSNP:rs34834039).		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)					GGAAGCACTCCATTAACAAAC	0.493													C|||	602	0.120208	0.1967	0.0821	5008	,	,		27512	0.0645		0.1173	False		,,,				2504	0.1043				p.P571L		Atlas-SNP	.											.	MUC17	804	.	0			c.C1712T						PASS	.	C	LEU/PRO	773,3633	314.4+/-293.6	63,647,1493	287	298	294		1712	0.4	0	7	dbSNP_126	294	982,7618	212.9+/-253.1	56,870,3374	yes	missense	MUC17	NM_001040105.1	98	119,1517,4867	TT,TC,CC		11.4186,17.5443,13.4938	benign	571/4494	100676409	1755,11251	2203	4300	6503	SO:0001583	missense	140453	exon3			GCACTCCATTAAC	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.1712C>T	7.37:g.100676409C>T	ENSP00000302716:p.Pro571Leu	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	222	222	1	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	221	0.10119047619047619	69	0.1402439024390244	34	0.09392265193370165	29	0.050699300699300696	89	0.11741424802110818	C	2.299	-0.360703	0.05103	0.175443	0.114186	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.401	0.401	0.16338	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.58432	P	1.0000000000287557E-6	B	0.24963	0.115	B	0.09377	0.004	T	0.46816	-0.9164	8	0.16420	T	0.52	.	6.7501	0.23482	0.0:0.9999:0.0:1.0E-4	rs34834039	571	Q685J3	MUC17_HUMAN	L	571	ENSP00000302716:P571L	ENSP00000302716:P571L	P	+	2	0	MUC17	100463129	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.756000	0.26419	0.496000	0.27904	0.501000	0.49751	CCA	C|0.880;T|0.120	0.120	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100676409	C	T	100676409	3	4	23	1	0	0	0	0	1	0	0	0	9974	594	21	2	1722	2	MUC17	7	100676409	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1033	100676409	58462254	1951	18407			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677355	100677355	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcaatcagcaccctttcAacaactcctgttgacaccag	5	15	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677355A>C	ENST00000306151.4	+	3	2722	c.2658A>C	c.(2656-2658)tcA>tcC	p.S886S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	886	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)					GCACCCTTTCAACAACTCCTG	0.498																																					p.S886S		Atlas-SNP	.											.	MUC17	804	.	0			c.A2658C						PASS	.						292	289	290					7																	100677355		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CCTTTCAACAACT	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.2658A>C	7.37:g.100677355A>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	302	23	0.0761589	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.	.	none		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677355	A	C	100677355	2	2	23	1	0	0	0	0	0	0	0	1	9974	117	5	5		5	MUC17	7	100677355	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	946	100677355	58461308	1952	18408			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677378	100677378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aactcctgttgacaccagcaCacctgtgaccaattctactg	6	14	1	2	rs143956720	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677378C>A	ENST00000306151.4	+	3	2745	c.2681C>A	c.(2680-2682)aCa>aAa	p.T894K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	894	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)					GACACCAGCACACCTGTGACC	0.498																																					p.T894K		Atlas-SNP	.											MUC17,NS,lymphoid_neoplasm,0,1	MUC17	804	1	0			c.C2681A						PASS	.	C	LYS/THR	350,4056	140.4+/-175.9	0,350,1853	297	290	292		2681	0.3	0	7	dbSNP_134	292	167,8433	48.9+/-108.6	0,167,4133	no	missense	MUC17	NM_001040105.1	78	0,517,5986	AA,AC,CC		1.9419,7.9437,3.9751	probably-damaging	894/4494	100677378	517,12489	2203	4300	6503	SO:0001583	missense	140453	exon3			CCAGCACACCTGT	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.2681C>A	7.37:g.100677378C>A	ENSP00000302716:p.Thr894Lys	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	291	77	0.264605	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.749	-0.052049	0.07362	0.079437	0.019419	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.25	0.305	0.15801	.	.	.	.	.	T	0.00178	0.0005	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.52267	0.694	T	0.52609	-0.8553	9	0.27082	T	0.32	.	5.4285	0.16440	0.0:0.7817:0.0:0.2183	.	894	Q685J3	MUC17_HUMAN	K	894	ENSP00000302716:T894K	ENSP00000302716:T894K	T	+	2	0	MUC17	100464098	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.259000	0.18405	0.099000	0.17552	0.196000	0.17591	ACA	C|0.958;A|0.042	0.042	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677378	C	A	100677378	3	1	23	1	0	0	0	0	1	0	0	0	9974	478	17	4	2691	4	MUC17	7	100677378	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	23	100677378	58461285	1953	18409			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677405	100677405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccaattctactgaagcccGttcgtctcctacaacttctg	6	14	3	1	rs141963257	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677405G>A	ENST00000306151.4	+	3	2772	c.2708G>A	c.(2707-2709)cGt>cAt	p.R903H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	903	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)					ACTGAAGCCCGTTCGTCTCCT	0.527													g|||	903	0.180312	0.2413	0.0836	5008	,	,		32677	0.1944		0.0964	False		,,,				2504	0.2382				p.R903H		Atlas-SNP	.											.	MUC17	804	.	0			c.G2708A						PASS	.						318	302	307					7																	100677405		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGCCCGTTCGTC	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.2708G>A	7.37:g.100677405G>A	ENSP00000302716:p.Arg903His	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	330	73	0.221212	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.072	-1.199648	0.01581	.	.	ENSG00000169876	ENST00000306151	T	0.02890	4.12	0.579	-1.16	0.09678	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45041	-0.9288	9	0.40728	T	0.16	.	4.33	0.11059	0.2123:0.3746:0.4131:0.0	.	903	Q685J3	MUC17_HUMAN	H	903	ENSP00000302716:R903H	ENSP00000302716:R903H	R	+	2	0	MUC17	100464125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.209000	0.01228	-3.371000	0.00177	-3.222000	0.00052	CGT	.	.	weak		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677405	G	A	100677405	3	1	23	1	0	0	0	0	1	0	0	0	9974	1145	40	1	2718	1	MUC17	7	100677405	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27	100677405	58461258	1954	18410			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677502	100677502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcctgacagcaccacgccGgtagtcagttctgaggctag	12	12	2	2	rs10267904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677502G>A	ENST00000306151.4	+	3	2869	c.2805G>A	c.(2803-2805)ccG>ccA	p.P935P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	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)					GCACCACGCCGGTAGTCAGTT	0.517																																					p.P935P		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+2,1	MUC17	804	1	0			c.G2805A						scavenged	.	G		706,3700		0,706,1497	376	325	342		2805	-2.4	0	7	dbSNP_119	342	866,7734		0,866,3434	no	coding-synonymous	MUC17	NM_001040105.1		0,1572,4931	AA,AG,GG		10.0698,16.0236,12.0867		935/4494	100677502	1572,11434	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.2805G>A	7.37:g.100677502G>A		Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	563	198	0.351687	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.969;A|0.031	0.031	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677502	G	A	100677502	2	1	23	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100677502	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	97	100677502	58461161	1955	18411			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677556	100677556	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcctgttgacaccagcacAcctgtgaccacttctactga	6	15	1	3	rs4373459	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677556A>C	ENST00000306151.4	+	3	2923	c.2859A>C	c.(2857-2859)acA>acC	p.T953T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	953	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)					ACACCAGCACACCTGTGACCA	0.498																																					p.T953T		Atlas-SNP	.											MUC17,colon,carcinoma,0,1	MUC17	804	1	0			c.A2859C						scavenged	.	A		426,3980	162.9+/-194.8	0,426,1777	317	293	301		2859	-0.2	0	7	dbSNP_111	301	518,8082	119.5+/-178.9	0,518,3782	no	coding-synonymous	MUC17	NM_001040105.1		0,944,5559	CC,CA,AA		6.0233,9.6686,7.2582		953/4494	100677556	944,12062	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CAGCACACCTGTG	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.2859A>C	7.37:g.100677556A>C		Somatic	176	2	0.0113636		WXS	Illumina HiSeq	Phase_I	534	174	0.325843	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.947;C|0.053	0.053	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100677556	A	C	100677556	2	2	23	1	0	0	0	0	0	0	0	1	9974	146	6	5		5	MUC17	7	100677556	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	54	100677556	58461107	1956	18412			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677586	100677586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttctactgaagccacttcAtctcctacaactgctgaagg	6	13	3	2	rs189731103		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677586A>G	ENST00000306151.4	+	3	2953	c.2889A>G	c.(2887-2889)tcA>tcG	p.S963S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	963	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)					AAGCCACTTCATCTCCTACAA	0.527																																					p.S963S		Atlas-SNP	.											.	MUC17	804	.	0			c.A2889G						PASS	.	A		626,3780		0,626,1577	329	308	316		2889	-0.7	0	7	dbSNP_134	316	572,8028		0,572,3728	no	coding-synonymous	MUC17	NM_001040105.1		0,1198,5305	GG,GA,AA		6.6512,14.2079,9.2111		963/4494	100677586	1198,11808	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACTTCATCTCCT	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.2889A>G	7.37:g.100677586A>G		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	527	170	0.322581	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.999;G|0.001	0.001	weak		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677586	A	G	100677586	2	3	23	1	0	0	0	0	0	0	0	1	9974	204	8	2		2	MUC17	7	100677586	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	30	100677586	58461077	1957	18413			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677625	100677625	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtaccagcataccaacctcGactcctagtgaaggaacgac					rs115078078	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677625G>A	ENST00000306151.4	+	3	2992	c.2928G>A	c.(2926-2928)tcG>tcA	p.S976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	976	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)					TACCAACCTCGACTCCTAGTG	0.507																																					p.S976S		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.G2928A						scavenged	.	A		154,4252	793.6+/-415.2	0,154,2049	352	328	336		2928	-1.5	0	7	dbSNP_133	336	106,8494	808.3+/-407.2	0,106,4194	no	coding-synonymous	MUC17	NM_001040105.1		0,260,6243	AA,AG,GG		1.2326,3.4952,1.9991		976/4494	100677625	260,12746	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACCTCGACTCCT	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.2928G>A	7.37:g.100677625G>A		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	625	151	0.2416	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.964;A|0.036	0.036	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677625	G	A	100677625	2	1	23	1	0	0	0	0	0	0	0	1	9974	1045	37	1		1	MUC17	7	100677625	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39	100677625	58461038	1958	18414	382	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677630	100677630	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcataccaacctcgactcCtagtgaaggaacgactccat					rs78990442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677630C>T	ENST00000306151.4	+	3	2997	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	978	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)					ACCTCGACTCCTAGTGAAGGA	0.512													C|||	1003	0.20028	0.2678	0.0994	5008	,	,		34431	0.2282		0.1113	False		,,,				2504	0.2434				p.P978L		Atlas-SNP	.											.	MUC17	804	.	0			c.C2933T						PASS	.	C	LEU/PRO	912,3494		0,912,1291	355	332	340		2933	0.6	0	7	dbSNP_131	340	814,7786		0,814,3486	no	missense	MUC17	NM_001040105.1	98	0,1726,4777	TT,TC,CC		9.4651,20.699,13.2708	probably-damaging	978/4494	100677630	1726,11280	2203	4300	6503	SO:0001583	missense	140453	exon3			CGACTCCTAGTGA	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.2933C>T	7.37:g.100677630C>T	ENSP00000302716:p.Pro978Leu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	639	350	0.547731	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.251	0.045554	0.08196	0.20699	0.094651	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.632	0.632	0.17705	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.21604	N	0.999623	D	0.76494	0.999	D	0.71184	0.972	T	0.50608	-0.8808	9	0.13853	T	0.58	.	7.1889	0.25814	0.0:0.9999:0.0:1.0E-4	.	978	Q685J3	MUC17_HUMAN	L	978	ENSP00000302716:P978L	ENSP00000302716:P978L	P	+	2	0	MUC17	100464350	0.000000	0.05858	0.013000	0.15412	0.007000	0.05969	-0.008000	0.12788	0.647000	0.30713	0.134000	0.15878	CCT	C|0.935;T|0.065	0.065	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677630	C	T	100677630	3	4	23	1	0	0	0	0	1	0	0	0	9974	681	24	2	2943	2	MUC17	7	100677630	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5	100677630	58461033	1959	18415	382	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677974	100677974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgacggtaccagcatgccaAcctcaacttatagtgaagga	9	11	1	2	rs113876641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677974A>G	ENST00000306151.4	+	3	3341	c.3277A>G	c.(3277-3279)Acc>Gcc	p.T1093A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1093	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)					CAGCATGCCAACCTCAACTTA	0.507																																					p.T1093A		Atlas-SNP	.											.	MUC17	804	.	0			c.A3277G						PASS	.						479	385	417					7																	100677974		2203	4300	6503	SO:0001583	missense	140453	exon3			ATGCCAACCTCAA	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.3277A>G	7.37:g.100677974A>G	ENSP00000302716:p.Thr1093Ala	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	890	178	0.2	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.073	-0.669248	0.03403	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.693	-0.692	0.11301	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	P	0.37985	0.613	B	0.25140	0.058	T	0.46638	-0.9177	9	0.10902	T	0.67	.	4.0642	0.09852	0.7272:0.0:0.2728:0.0	.	1093	Q685J3	MUC17_HUMAN	A	1093	ENSP00000302716:T1093A	ENSP00000302716:T1093A	T	+	1	0	MUC17	100464694	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.411000	0.07142	-0.284000	0.09102	0.165000	0.16767	ACC	A|0.998;G|0.002	0.002	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677974	A	G	100677974	3	3	23	1	0	0	0	0	1	0	0	0	9974	43	2	2	3287	2	MUC17	7	100677974	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	344	100677974	58460689	1960	18416			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677988	100677988	+	Missense_Mutation	SNP	T	T	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccaacctcaacttatagTgaaggaagcactccactaac					rs11769696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677988T>A	ENST00000306151.4	+	3	3355	c.3291T>A	c.(3289-3291)agT>agA	p.S1097R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1097	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)					CAACTTATAGTGAAGGAAGCA	0.517																																					p.S1097R		Atlas-SNP	.											.	MUC17	804	.	0			c.T3291A						PASS	.	T	ARG/SER	790,3616		0,790,1413	479	384	416		3291	-1.1	0	7	dbSNP_120	416	931,7669		0,931,3369	no	missense	MUC17	NM_001040105.1	110	0,1721,4782	AA,AT,TT		10.8256,17.9301,13.2324	benign	1097/4494	100677988	1721,11285	2203	4300	6503	SO:0001583	missense	140453	exon3			TTATAGTGAAGGA	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.3291T>A	7.37:g.100677988T>A	ENSP00000302716:p.Ser1097Arg	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	929	263	0.2831	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.381	-0.928558	0.02359	0.179301	0.108256	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.542	-1.08	0.09936	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.09310	N	1	B	0.27594	0.182	B	0.13407	0.009	T	0.47262	-0.9131	8	0.33141	T	0.24	.	.	.	.	rs11769696	1097	Q685J3	MUC17_HUMAN	R	1097	ENSP00000302716:S1097R	ENSP00000302716:S1097R	S	+	3	2	MUC17	100464708	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.298000	0.08265	-1.276000	0.02414	0.165000	0.16767	AGT	T|0.991;A|0.009	0.009	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677988	T	A	100677988	3	1	23	1	0	0	0	0	1	0	0	0	9974	1693	59	5	3301	5	MUC17	7	100677988	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14	100677988	58460675	1961	18417	383	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100677995	100677995	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcaacttatagtgaaggaAgcactccactaacaagtgtg					rs149287079		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100677995A>G	ENST00000306151.4	+	3	3362	c.3298A>G	c.(3298-3300)Agc>Ggc	p.S1100G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1100	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)					TAGTGAAGGAAGCACTCCACT	0.517																																					p.S1100G		Atlas-SNP	.											.	MUC17	804	.	0			c.A3298G						PASS	.						490	389	423					7																	100677995		2203	4300	6503	SO:0001583	missense	140453	exon3			GAAGGAAGCACTC	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.3298A>G	7.37:g.100677995A>G	ENSP00000302716:p.Ser1100Gly	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	909	157	0.172717	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.119	-1.127913	0.01770	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.693	-1.39	0.08997	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.46721	-0.9171	9	0.25751	T	0.34	.	2.8064	0.05429	0.5265:0.2609:0.2126:0.0	.	1100	Q685J3	MUC17_HUMAN	G	1100	ENSP00000302716:S1100G	ENSP00000302716:S1100G	S	+	1	0	MUC17	100464715	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.232000	0.02936	-1.186000	0.02713	-1.357000	0.01221	AGC	.	.	weak		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677995	A	G	100677995	3	3	23	1	0	0	0	0	1	0	0	0	9974	72	3	3	3308	3	MUC17	7	100677995	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7	100677995	58460668	1962	18418	383	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678013	100678013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagcactccactaacaagtGtgcctgtcagcaccaggctg	10	13	1	0	rs75312831	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678013G>A	ENST00000306151.4	+	3	3380	c.3316G>A	c.(3316-3318)Gtg>Atg	p.V1106M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1106	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)					ACTAACAAGTGTGCCTGTCAG	0.507																																					p.V1106M		Atlas-SNP	.											MUC17,NS,carcinoma,-2,1	MUC17	804	1	0			c.G3316A						scavenged	.	A	MET/VAL	242,4164	121.3+/-158.8	0,242,1961	496	393	428		3316	-1.6	0	7	dbSNP_131	428	151,8449	62.8+/-124.8	0,151,4149	no	missense	MUC17	NM_001040105.1	21	0,393,6110	AA,AG,GG		1.7558,5.4925,3.0217	benign	1106/4494	100678013	393,12613	2203	4300	6503	SO:0001583	missense	140453	exon3			ACAAGTGTGCCTG	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.3316G>A	7.37:g.100678013G>A	ENSP00000302716:p.Val1106Met	Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	848	181	0.213443	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.067	-1.211056	0.01555	0.054925	0.017558	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.801	-1.6	0.08426	.	.	.	.	.	T	0.00241	0.0007	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.43475	-0.9389	9	0.28530	T	0.3	.	0.7416	0.00975	0.3295:0.1734:0.324:0.173	.	1106	Q685J3	MUC17_HUMAN	M	1106	ENSP00000302716:V1106M	ENSP00000302716:V1106M	V	+	1	0	MUC17	100464733	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.810000	0.01729	-2.966000	0.00288	-1.214000	0.01621	GTG	A|0.022;G|0.978	0.022	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678013	G	A	100678013	3	1	23	1	0	0	0	0	1	0	0	0	9974	1377	48	2	3326	2	MUC17	7	100678013	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18	100678013	58460650	1963	18419			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678029	100678029	+	Missense_Mutation	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtgtgcctgtcagcaccaGgctggtggtcagttctgagg					rs142558659		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678029G>C	ENST00000306151.4	+	3	3396	c.3332G>C	c.(3331-3333)aGg>aCg	p.R1111T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1111	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)					GTCAGCACCAGGCTGGTGGTC	0.507																																					p.R1111T		Atlas-SNP	.											.	MUC17	804	.	0			c.G3332C						PASS	.						498	396	431					7																	100678029		2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCAGGCTGGT	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.3332G>C	7.37:g.100678029G>C	ENSP00000302716:p.Arg1111Thr	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	766	95	0.124021	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.065	-1.213913	0.01555	.	.	ENSG00000169876	ENST00000306151	T	0.02812	4.15	0.801	-1.6	0.08426	.	.	.	.	.	T	0.00906	0.0030	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	9	0.02654	T	1	.	6.8116	0.23807	0.0:0.6951:0.3049:0.0	.	1111	Q685J3	MUC17_HUMAN	T	1111	ENSP00000302716:R1111T	ENSP00000302716:R1111T	R	+	2	0	MUC17	100464749	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.692000	0.05127	-0.647000	0.05444	-2.911000	0.00091	AGG	.	.	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678029	G	C	100678029	3	2	23	1	0	0	0	0	1	0	0	0	9974	1000	35	4	3342	4	MUC17	7	100678029	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16	100678029	58460634	1964	18420	384	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678032	100678032	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgcctgtcagcaccaggcTggtggtcagttctgaggcta					rs147173571		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678032T>C	ENST00000306151.4	+	3	3399	c.3335T>C	c.(3334-3336)cTg>cCg	p.L1112P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1112	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)					AGCACCAGGCTGGTGGTCAGT	0.512																																					p.L1112P		Atlas-SNP	.											.	MUC17	804	.	0			c.T3335C						PASS	.						494	394	428					7																	100678032		2203	4300	6503	SO:0001583	missense	140453	exon3			CCAGGCTGGTGGT	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.3335T>C	7.37:g.100678032T>C	ENSP00000302716:p.Leu1112Pro	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	753	89	0.118194	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093913	0.01858	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.693	-0.391	0.12446	.	.	.	.	.	T	0.01320	0.0043	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48055	-0.9068	8	0.25751	T	0.34	.	.	.	.	.	1112	Q685J3	MUC17_HUMAN	P	1112	ENSP00000302716:L1112P	ENSP00000302716:L1112P	L	+	2	0	MUC17	100464752	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-6.070000	0.00082	-0.165000	0.10908	-1.364000	0.01208	CTG	.	.	weak		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678032	T	C	100678032	3	2	23	1	0	0	0	0	1	0	0	0	9974	1580	55	3	3345	3	MUC17	7	100678032	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3	100678032	58460631	1965	18421	384	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678075	100678075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accctttccacaactcctgtCgacaccagcatacctgtcac	4	18	1	0	rs147945988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678075C>T	ENST00000306151.4	+	3	3442	c.3378C>T	c.(3376-3378)gtC>gtT	p.V1126V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1126	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)					CAACTCCTGTCGACACCAGCA	0.517													T|||	163	0.0325479	0.0333	0.013	5008	,	,		37322	0.0734		0.0229	False		,,,				2504	0.0133				p.V1126V		Atlas-SNP	.											.	MUC17	804	.	0			c.C3378T						PASS	.						403	345	365					7																	100678075		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TCCTGTCGACACC	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.3378C>T	7.37:g.100678075C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	529	80	0.151229	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.998;T|0.002	0.002	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678075	C	T	100678075	2	4	23	1	0	0	0	0	0	0	0	1	9974	871	31	1		1	MUC17	7	100678075	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43	100678075	58460588	1966	18422			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678405	100678405	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagtggccagttctgaggcTagcaccctttcaacatctcc					rs4729648	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678405T>C	ENST00000306151.4	+	3	3772	c.3708T>C	c.(3706-3708)gcT>gcC	p.A1236A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1236	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)					GTTCTGAGGCTAGCACCCTTT	0.522													T|||	989	0.197484	0.2663	0.0893	5008	,	,		30674	0.2212		0.1083	False		,,,				2504	0.2485				p.A1236A		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.T3708C						scavenged	.	T		340,4066	144.2+/-179.2	0,340,1863	305	293	297		3708	-0.9	0	7	dbSNP_111	297	209,8391	66.0+/-128.3	0,209,4091	no	coding-synonymous	MUC17	NM_001040105.1		0,549,5954	CC,CT,TT		2.4302,7.7167,4.2211		1236/4494	100678405	549,12457	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			TGAGGCTAGCACC	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.3708T>C	7.37:g.100678405T>C		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	253	72	0.284585	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.936;C|0.064	0.064	strong		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678405	T	C	100678405	2	2	23	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100678405	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	330	100678405	58460258	1967	18423	385	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678407	100678407	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtggccagttctgaggctaGcaccctttcaacatctcccg					rs4729649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678407G>A	ENST00000306151.4	+	3	3774	c.3710G>A	c.(3709-3711)aGc>aAc	p.S1237N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1237	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)					TCTGAGGCTAGCACCCTTTCA	0.527													G|||	989	0.197484	0.2663	0.0893	5008	,	,		29474	0.2212		0.1083	False		,,,				2504	0.2485				p.S1237N		Atlas-SNP	.											MUC17,caecum,carcinoma,0,1	MUC17	804	1	0			c.G3710A						scavenged	.	G	ASN/SER	354,4052	149.2+/-183.4	0,354,1849	303	291	295		3710	-1.7	0	7	dbSNP_111	295	220,8380	66.0+/-128.3	0,220,4080	no	missense	MUC17	NM_001040105.1	46	0,574,5929	AA,AG,GG		2.5581,8.0345,4.4133	benign	1237/4494	100678407	574,12432	2203	4300	6503	SO:0001583	missense	140453	exon3			AGGCTAGCACCCT	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.3710G>A	7.37:g.100678407G>A	ENSP00000302716:p.Ser1237Asn	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	244	68	0.278689	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.984	-0.696233	0.03279	0.080345	0.025581	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.47235	-0.9133	9	0.26408	T	0.33	.	2.9027	0.05711	0.0:0.3166:0.4155:0.2679	rs4729649	1237	Q685J3	MUC17_HUMAN	N	1237	ENSP00000302716:S1237N	ENSP00000302716:S1237N	S	+	2	0	MUC17	100465127	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.728000	0.00807	-1.139000	0.02881	0.134000	0.15878	AGC	G|0.948;A|0.052	0.052	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678407	G	A	100678407	3	1	23	1	0	0	0	0	1	0	0	0	9974	971	34	2	3720	2	MUC17	7	100678407	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2	100678407	58460256	1968	18424	385	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678421	100678421	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctagcaccctttcaacaTctcccgttgacaccagcaca	6	16	2	1	rs200902631|rs10265276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678421T>A	ENST00000306151.4	+	3	3788	c.3724T>A	c.(3724-3726)Tct>Act	p.S1242T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1242	59 X approximate tandem repeats.|Ser-rich.		S -> T (in dbSNP:rs10265276).		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)					CCTTTCAACATCTCCCGTTGA	0.517													A|||	1177	0.235024	0.3389	0.1009	5008	,	,		29246	0.253		0.1213	False		,,,				2504	0.2883				p.S1242T		Atlas-SNP	.											MUC17,NS,carcinoma,-1,1	MUC17	804	1	0			c.T3724A						scavenged	.	A	THR/SER	1322,3084	695.6+/-406.0	206,910,1087	288	284	286		3724	-1.7	0	7	dbSNP_119	286	999,7601	773.2+/-407.7	57,885,3358	no	missense	MUC17	NM_001040105.1	58	263,1795,4445	AA,AT,TT		11.6163,30.0045,17.8456	benign	1242/4494	100678421	2321,10685	2203	4300	6503	SO:0001583	missense	140453	exon3			TCAACATCTCCCG	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.3724T>A	7.37:g.100678421T>A	ENSP00000302716:p.Ser1242Thr	Somatic	137	2	0.0145985		WXS	Illumina HiSeq	Phase_I	249	244	0.97992	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	471	0.21565934065934067	160	0.3252032520325203	46	0.1270718232044199	161	0.28146853146853146	104	0.13720316622691292	A	1.120	-0.655521	0.03480	0.300045	0.116163	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.838	-1.68	0.08212	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35871	-0.9771	8	0.09084	T	0.74	.	2.3789	0.04349	0.3049:0.2132:0.0:0.4819	rs10265276;rs59394740	1242	Q685J3	MUC17_HUMAN	T	1242	ENSP00000302716:S1242T	ENSP00000302716:S1242T	S	+	1	0	MUC17	100465141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.179000	0.03090	-2.874000	0.00322	-1.617000	0.00794	TCT	T|0.819;A|0.181	0.181	strong		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678421	T	A	100678421	3	1	23	1	0	0	0	0	1	0	0	0	9974	1435	50	5	3734	5	MUC17	7	100678421	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14	100678421	58460242	1969	18425			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678442	100678442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcccgttgacaccagcacaCctgtgaccacttctgctgaa	7	16	1	3	rs4729653	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678442C>G	ENST00000306151.4	+	3	3809	c.3745C>G	c.(3745-3747)Cct>Gct	p.P1249A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1249	59 X approximate tandem repeats.|Ser-rich.		P -> A (in dbSNP:rs4729653).		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)					CACCAGCACACCTGTGACCAC	0.493																																					p.P1249A		Atlas-SNP	.											.	MUC17	804	.	0			c.C3745G						PASS	.	G	ALA/PRO	422,3984	166.9+/-198.0	0,422,1781	293	286	288		3745	-1.5	0	7	dbSNP_111	288	264,8336	76.9+/-139.5	0,264,4036	no	missense	MUC17	NM_001040105.1	27	0,686,5817	GG,GC,CC		3.0698,9.5778,5.2745	benign	1249/4494	100678442	686,12320	2203	4300	6503	SO:0001583	missense	140453	exon3			AGCACACCTGTGA	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.3745C>G	7.37:g.100678442C>G	ENSP00000302716:p.Pro1249Ala	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	258	67	0.25969	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	374	0.17124542124542125	131	0.266260162601626	38	0.10497237569060773	131	0.229020979020979	74	0.09762532981530343	C	0.005	-2.127578	0.00342	0.095778	0.030698	ENSG00000169876	ENST00000306151	T	0.03124	4.04	0.74	-1.48	0.08745	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.46317	-0.9200	9	0.06757	T	0.87	.	1.083	0.01647	0.2005:0.2015:0.4007:0.1974	rs4729653;rs4729653	1249	Q685J3	MUC17_HUMAN	A	1249	ENSP00000302716:P1249A	ENSP00000302716:P1249A	P	+	1	0	MUC17	100465162	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.093000	0.00081	-3.113000	0.00241	-1.285000	0.01374	CCT	C|0.918;G|0.082	0.082	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678442	C	G	100678442	3	3	23	1	0	0	0	0	1	0	0	0	9974	507	18	4	3755	4	MUC17	7	100678442	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21	100678442	58460221	1970	18426			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678481	100678481	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaccagttcctctcctacaAccgctgaaggtaccagcttg	7	14	1	1	rs73168389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678481A>T	ENST00000306151.4	+	3	3848	c.3784A>T	c.(3784-3786)Acc>Tcc	p.T1262S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1262	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)					CTCTCCTACAACCGCTGAAGG	0.527																																					p.T1262S		Atlas-SNP	.											.	MUC17	804	.	0			c.A3784T						PASS	.	T	SER/THR	586,3820		0,586,1617	284	275	278		3784	-0.9	0	7	dbSNP_130	278	392,8208		0,392,3908	no	missense	MUC17	NM_001040105.1	58	0,978,5525	TT,TA,AA		4.5581,13.3,7.5196	probably-damaging	1262/4494	100678481	978,12028	2203	4300	6503	SO:0001583	missense	140453	exon3			CCTACAACCGCTG	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.3784A>T	7.37:g.100678481A>T	ENSP00000302716:p.Thr1262Ser	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	300	89	0.296667	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.210490	0.01555	0.133	0.045581	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.438	-0.877	0.10621	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	D	0.55385	0.971	B	0.42188	0.379	T	0.20538	-1.0272	8	0.06494	T	0.89	.	.	.	.	.	1262	Q685J3	MUC17_HUMAN	S	1262	ENSP00000302716:T1262S	ENSP00000302716:T1262S	T	+	1	0	MUC17	100465201	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-1.637000	0.02015	-1.145000	0.02858	-1.640000	0.00773	ACC	A|0.973;T|0.027	0.027	strong		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678481	A	T	100678481	3	4	23	1	0	0	0	0	1	0	0	0	9974	43	2	5	3794	5	MUC17	7	100678481	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	39	100678481	58460182	1971	18427			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678527	100678527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaactactagtgaaggaaGtactctattaacaagtatac	6	8	2	1	rs73402889	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678527G>T	ENST00000306151.4	+	3	3894	c.3830G>T	c.(3829-3831)aGt>aTt	p.S1277I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1277	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)					AGTGAAGGAAGTACTCTATTA	0.498																																					p.S1277I		Atlas-SNP	.											MUC17,adrenal_gland,adrenal_cortical_adenoma,0,1	MUC17	804	1	0			c.G3830T						PASS	.	G	ILE/SER	508,3898		0,508,1695	279	268	272		3830	0.4	0	7	dbSNP_131	272	744,7856		0,744,3556	yes	missense	MUC17	NM_001040105.1	142	0,1252,5251	TT,TG,GG		8.6512,11.5297,9.6263	possibly-damaging	1277/4494	100678527	1252,11754	2203	4300	6503	SO:0001583	missense	140453	exon3			AAGGAAGTACTCT	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.3830G>T	7.37:g.100678527G>T	ENSP00000302716:p.Ser1277Ile	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	314	109	0.347134	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	209	0.09569597069597069	65	0.13211382113821138	35	0.09668508287292818	26	0.045454545454545456	83	0.10949868073878628	g	0.856	-0.736924	0.03111	0.115297	0.086512	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.373	0.373	0.16178	.	.	.	.	.	T	0.00039	0.0001	L	0.29908	0.895	0.09310	N	1	P	0.47604	0.898	B	0.36885	0.235	T	0.55224	-0.8174	8	0.42905	T	0.14	.	.	.	.	.	1277	Q685J3	MUC17_HUMAN	I	1277	ENSP00000302716:S1277I	ENSP00000302716:S1277I	S	+	2	0	MUC17	100465247	0.000000	0.05858	0.010000	0.14722	0.017000	0.09413	-1.635000	0.02018	0.472000	0.27344	0.134000	0.15878	AGT	G|0.918;T|0.082	0.082	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678527	G	T	100678527	3	4	23	1	0	0	0	0	1	0	0	0	9974	1029	36	4	3840	4	MUC17	7	100678527	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46	100678527	58460136	1972	18428			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678560	100678560	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtatacctgtcagcaccaCgctggtgaccagtcctgagg					rs77199586	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678560C>A	ENST00000306151.4	+	3	3927	c.3863C>A	c.(3862-3864)aCg>aAg	p.T1288K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	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)					GTCAGCACCACGCTGGTGACC	0.473																																					p.T1288K		Atlas-SNP	.											MUC17,NS,carcinoma,-1,2	MUC17	804	2	0			c.C3863A						PASS	.	C	LYS/THR	768,3638		0,768,1435	272	261	265		3863	-0.9	0	7	dbSNP_131	265	553,8047		0,553,3747	no	missense	MUC17	NM_001040105.1	78	0,1321,5182	AA,AC,CC		6.4302,17.4308,10.1569	possibly-damaging	1288/4494	100678560	1321,11685	2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCACGCTGGT	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.3863C>A	7.37:g.100678560C>A	ENSP00000302716:p.Thr1288Lys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	263	85	0.323194	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.376343	0.01214	0.174308	0.064302	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.471	-0.942	0.10398	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.09310	N	1	P	0.47302	0.893	B	0.35727	0.209	T	0.40683	-0.9550	8	0.25106	T	0.35	.	.	.	.	.	1288	Q685J3	MUC17_HUMAN	K	1288	ENSP00000302716:T1288K	ENSP00000302716:T1288K	T	+	2	0	MUC17	100465280	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.039000	0.13884	-1.561000	0.01684	-2.053000	0.00404	ACG	C|0.936;A|0.064	0.064	strong		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678560	C	A	100678560	3	1	23	1	0	0	0	0	1	0	0	0	9974	536	19	4	3873	4	MUC17	7	100678560	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	33	100678560	58460103	1973	18429	386	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678568	100678568	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtcagcaccacgctggtgAccagtcctgaggctagcacc					rs75492258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678568A>T	ENST00000306151.4	+	3	3935	c.3871A>T	c.(3871-3873)Acc>Tcc	p.T1291S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1291	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)					CACGCTGGTGACCAGTCCTGA	0.478																																					p.T1291S		Atlas-SNP	.											MUC17,adrenal_gland,adrenal_cortical_adenoma,0,1	MUC17	804	1	0			c.A3871T						PASS	.	G	SER/THR	962,3444		0,962,1241	269	257	261		3871	-0.9	0	7	dbSNP_131	261	807,7793		0,807,3493	no	missense	MUC17	NM_001040105.1	58	0,1769,4734	TT,TA,AA		9.3837,21.8339,13.6014	benign	1291/4494	100678568	1769,11237	2203	4300	6503	SO:0001583	missense	140453	exon3			CTGGTGACCAGTC	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.3871A>T	7.37:g.100678568A>T	ENSP00000302716:p.Thr1291Ser	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	259	87	0.335907	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364480	0.01235	0.218339	0.093837	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.471	-0.942	0.10398	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44314	-0.9336	8	0.14656	T	0.56	.	.	.	.	.	1291	Q685J3	MUC17_HUMAN	S	1291	ENSP00000302716:T1291S	ENSP00000302716:T1291S	T	+	1	0	MUC17	100465288	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.016000	0.01446	-3.635000	0.00129	-3.626000	0.00027	ACC	A|0.934;T|0.066	0.066	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678568	A	T	100678568	3	4	23	1	0	0	0	0	1	0	0	0	9974	275	10	5	3881	5	MUC17	7	100678568	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	8	100678568	58460095	1974	18430	386	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678610	100678610	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttaacaactcctgttgacActaaaggtcctgtggtcact					rs78010183	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678610A>T	ENST00000306151.4	+	3	3977	c.3913A>T	c.(3913-3915)Act>Tct	p.T1305S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1305	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)					TCCTGTTGACACTAAAGGTCC	0.458																																					p.T1305S		Atlas-SNP	.											.	MUC17	804	.	0			c.A3913T						PASS	.						240	230	233					7																	100678610		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTGACACTAAAG	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.3913A>T	7.37:g.100678610A>T	ENSP00000302716:p.Thr1305Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	242	85	0.35124	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.413760	0.01145	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.471	-0.942	0.10398	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49670	-0.8915	8	0.18710	T	0.47	.	.	.	.	.	1305	Q685J3	MUC17_HUMAN	S	1305	ENSP00000302716:T1305S	ENSP00000302716:T1305S	T	+	1	0	MUC17	100465330	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.508000	0.06344	-3.256000	0.00203	-4.074000	0.00012	ACT	A|0.943;T|0.057	0.057	strong		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678610	A	T	100678610	3	4	23	1	0	0	0	0	1	0	0	0	9974	159	6	5	3923	5	MUC17	7	100678610	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	42	100678610	58460053	1975	18431	387	3	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678616	100678616	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caactcctgttgacactaaaGgtcctgtggtcacttctaat					rs113959201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678616G>A	ENST00000306151.4	+	3	3983	c.3919G>A	c.(3919-3921)Ggt>Agt	p.G1307S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1307	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)					TGACACTAAAGGTCCTGTGGT	0.453																																					p.G1307S		Atlas-SNP	.											.	MUC17	804	.	0			c.G3919A						PASS	.						238	228	231					7																	100678616		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTAAAGGTCCTG	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.3919G>A	7.37:g.100678616G>A	ENSP00000302716:p.Gly1307Ser	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	256	92	0.359375	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.077	-0.411605	0.04799	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.471	-0.942	0.10398	.	.	.	.	.	T	0.01029	0.0034	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	8	0.06757	T	0.87	.	.	.	.	.	1307	Q685J3	MUC17_HUMAN	S	1307	ENSP00000302716:G1307S	ENSP00000302716:G1307S	G	+	1	0	MUC17	100465336	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	-2.345000	0.00621	-1.616000	0.00795	GGT	G|0.941;A|0.059	0.059	strong		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678616	G	A	100678616	3	1	23	1	0	0	0	0	1	0	0	0	9974	1000	35	2	3929	2	MUC17	7	100678616	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6	100678616	58460047	1976	18432	387	3	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678622	100678622	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttgacactaaaggtcctGtggtcacttctaatgaagtc					rs77299546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678622G>A	ENST00000306151.4	+	3	3989	c.3925G>A	c.(3925-3927)Gtg>Atg	p.V1309M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1309	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)					TAAAGGTCCTGTGGTCACTTC	0.448																																					p.V1309M		Atlas-SNP	.											.	MUC17	804	.	0			c.G3925A						PASS	.						236	226	229					7																	100678622		2203	4300	6503	SO:0001583	missense	140453	exon3			GGTCCTGTGGTCA	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.3925G>A	7.37:g.100678622G>A	ENSP00000302716:p.Val1309Met	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	264	90	0.340909	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.174	-1.068527	0.01934	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.471	-0.621	0.11564	.	.	.	.	.	T	0.04272	0.0118	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	P	0.55667	0.781	T	0.44143	-0.9347	8	0.33940	T	0.23	.	.	.	.	.	1309	Q685J3	MUC17_HUMAN	M	1309	ENSP00000302716:V1309M	ENSP00000302716:V1309M	V	+	1	0	MUC17	100465342	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.596000	0.05720	-0.241000	0.09681	-1.379000	0.01178	GTG	G|0.936;A|0.064	0.064	strong		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678622	G	A	100678622	3	1	23	1	0	0	0	0	1	0	0	0	9974	1377	48	2	3935	2	MUC17	7	100678622	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6	100678622	58460041	1977	18433	387	3	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678693	100678693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatgccaacctcaacttaTagtgaaggaagaactccttt	7	10	1	2	rs78176991	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678693T>C	ENST00000306151.4	+	3	4060	c.3996T>C	c.(3994-3996)taT>taC	p.Y1332Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1332	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)					CCTCAACTTATAGTGAAGGAA	0.448																																					p.Y1332Y		Atlas-SNP	.											.	MUC17	804	.	0			c.T3996C						PASS	.						241	232	235					7																	100678693		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACTTATAGTGAA	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.3996T>C	7.37:g.100678693T>C		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	264	39	0.147727	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			T|0.994;C|0.006	0.006	strong		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678693	T	C	100678693	2	2	23	1	0	0	0	0	0	0	0	1	9974	1413	49	2		2	MUC17	7	100678693	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	71	100678693	58459970	1978	18434			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678740	100678740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatacctgtcaacaccacacTggtggccagttctgcaatca	7	13	3	0	rs4269454	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678740T>C	ENST00000306151.4	+	3	4107	c.4043T>C	c.(4042-4044)cTg>cCg	p.L1348P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1348	59 X approximate tandem repeats.|Ser-rich.		L -> P (in dbSNP:rs4269454). {ECO:0000269|PubMed:9299468}.		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)					AACACCACACTGGTGGCCAGT	0.463													N|||	1193	0.238219	0.351	0.1023	5008	,	,		25539	0.252		0.1213	False		,,,				2504	0.2883				p.L1348P		Atlas-SNP	.											.	MUC17	804	.	0			c.T4043C						PASS	.	C	PRO/LEU	1348,3058	693.0+/-405.6	209,930,1064	228	227	227		4043	-1.7	0	7	dbSNP_111	227	999,7601	773.3+/-407.7	57,885,3358	no	missense	MUC17	NM_001040105.1	98	266,1815,4422	CC,CT,TT		11.6163,30.5946,18.0455	benign	1348/4494	100678740	2347,10659	2203	4300	6503	SO:0001583	missense	140453	exon3			CCACACTGGTGGC	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.4043T>C	7.37:g.100678740T>C	ENSP00000302716:p.Leu1348Pro	Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	234	223	0.952991	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	430	0.19688644688644688	159	0.3231707317073171	42	0.11602209944751381	140	0.24475524475524477	89	0.11741424802110818	c	0.013	-1.645144	0.00792	0.305946	0.116163	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.861	-1.72	0.08107	.	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	8	0.27785	T	0.31	.	3.1089	0.06351	0.1991:0.2846:0.0:0.5164	rs4269454;rs10374373;rs52835910;rs4269454	1348	Q685J3	MUC17_HUMAN	P	1348	ENSP00000302716:L1348P	ENSP00000302716:L1348P	L	+	2	0	MUC17	100465460	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.110000	0.01334	-3.604000	0.00133	-3.178000	0.00056	CTG	T|0.821;C|0.179	0.179	strong		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678740	T	C	100678740	3	2	23	1	0	0	0	0	1	0	0	0	9974	1580	55	3	4053	3	MUC17	7	100678740	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	47	100678740	58459923	1979	18435			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678820	100678820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaccacttctactgaagccTgttcatctcctacaacttct	4	14	4	2	rs386716198|rs4367469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678820T>C	ENST00000306151.4	+	3	4187	c.4123T>C	c.(4123-4125)Tgt>Cgt	p.C1375R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1375	59 X approximate tandem repeats.|Ser-rich.		C -> R (in dbSNP:rs4367469). {ECO:0000269|PubMed:9299468}.		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)					TACTGAAGCCTGTTCATCTCC	0.483																																					p.C1375R		Atlas-SNP	.											.	MUC17	804	.	0			c.T4123C						PASS	.	C	ARG/CYS	1301,3105		206,889,1108	232	241	238		4123	-0.5	0	7	dbSNP_111	238	999,7601		57,885,3358	no	missense	MUC17	NM_001040105.1	180	263,1774,4466	CC,CT,TT		11.6163,29.5279,17.6841	benign	1375/4494	100678820	2300,10706	2203	4300	6503	SO:0001583	missense	140453	exon3			GAAGCCTGTTCAT	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.4123T>C	7.37:g.100678820T>C	ENSP00000302716:p.Cys1375Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	173	170	0.982659	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	350	0.16025641025641027	113	0.22967479674796748	35	0.09668508287292818	125	0.21853146853146854	77	0.10158311345646438	N	0.035	-1.311408	0.01342	0.295279	0.116163	ENSG00000169876	ENST00000306151	T	0.02974	4.09	0.838	-0.487	0.12060	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43343	-0.9397	8	0.17832	T	0.49	.	2.045	0.03558	0.4021:0.3014:0.0:0.2965	rs4367469;rs10374415	1375	Q685J3	MUC17_HUMAN	R	1375	ENSP00000302716:C1375R	ENSP00000302716:C1375R	C	+	1	0	MUC17	100465540	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.262000	0.08682	-0.774000	0.04590	-4.225000	0.00009	TGT	T|0.834;C|0.166	0.166	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100678820	T	C	100678820	3	2	23	1	0	0	0	0	1	0	0	0	9974	1580	55	3	4133	3	MUC17	7	100678820	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	80	100678820	58459843	1980	18436			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678918	100678918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacctgtcagcaccacgccGgtagtcagttctgaggctag	11	12	3	1	rs200627718|rs71286278	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678918G>A	ENST00000306151.4	+	3	4285	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	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)					GCACCACGCCGGTAGTCAGTT	0.512																																					p.P1407P		Atlas-SNP	.											MUC17,colon,carcinoma,+1,1	MUC17	804	1	0			c.G4221A						scavenged	.						272	277	276					7																	100678918		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.4221G>A	7.37:g.100678918G>A		Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	197	6	0.0304569	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.998;A|0.002	0.002	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678918	G	A	100678918	2	1	23	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100678918	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	98	100678918	58459745	1981	18437			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678932	100678932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgccggtagtcagttctgAggctagcaccctttcagcaa	10	13	3	1	rs114941002		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678932A>G	ENST00000306151.4	+	3	4299	c.4235A>G	c.(4234-4236)gAg>gGg	p.E1412G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1412	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)					GTCAGTTCTGAGGCTAGCACC	0.502																																					p.E1412G		Atlas-SNP	.											MUC17,NS,carcinoma,+1,1	MUC17	804	1	0			c.A4235G						scavenged	.						272	277	275					7																	100678932		2203	4300	6503	SO:0001583	missense	140453	exon3			GTTCTGAGGCTAG	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.4235A>G	7.37:g.100678932A>G	ENSP00000302716:p.Glu1412Gly	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	218	31	0.142202	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449416	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.838	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B	0.27765	0.188	B	0.19946	0.027	T	0.48502	-0.9030	9	0.23891	T	0.37	.	3.0434	0.06146	0.6909:0.0:0.3091:0.0	.	1412	Q685J3	MUC17_HUMAN	G	1412	ENSP00000302716:E1412G	ENSP00000302716:E1412G	E	+	2	0	MUC17	100465652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.362000	0.07602	-0.153000	0.11137	0.113000	0.15668	GAG	.	.	weak		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678932	A	G	100678932	3	3	23	1	0	0	0	0	1	0	0	0	9974	304	11	3	4245	3	MUC17	7	100678932	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14	100678932	58459731	1982	18438			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	17	3	1	rs71286276		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	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)	p.A1431T(1)		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)					GACCACTTCTGCTGAAGCCAC	0.488																																					p.A1431T		Atlas-SNP	.											MUC17,NS,carcinoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	kidney(1)	c.G4291A						scavenged	.						207	222	217					7																	100678988		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTTCTGCTGAAG	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.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	205	12	0.0585366	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT	.	.	none		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678988	G	A	100678988	3	1	23	1	0	0	0	0	1	0	0	0	9974	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	56	100678988	58459675	1983	18439			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100679136	100679136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccctttcaacaactcctgTtgactctaacagtcctgtgg	6	14	2	1	rs7780935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100679136T>C	ENST00000306151.4	+	3	4503	c.4439T>C	c.(4438-4440)gTt>gCt	p.V1480A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1480	59 X approximate tandem repeats.|Ser-rich.		V -> A (in dbSNP:rs7780935). {ECO:0000269|PubMed:9299468}.		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)					ACAACTCCTGTTGACTCTAAC	0.483													T|||	657	0.13119	0.2322	0.085	5008	,	,		25204	0.0665		0.1173	False		,,,				2504	0.1084				p.V1480A		Atlas-SNP	.											.	MUC17	804	.	0			c.T4439C						PASS	.	T	ALA/VAL	909,3497	350.0+/-310.6	93,723,1387	157	165	162		4439	-2.2	0	7	dbSNP_116	162	987,7609	213.4+/-253.3	57,873,3368	no	missense	MUC17	NM_001040105.1	64	150,1596,4755	CC,CT,TT		11.4821,20.631,14.5824	benign	1480/4494	100679136	1896,11106	2203	4298	6501	SO:0001583	missense	140453	exon3			CTCCTGTTGACTC	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.4439T>C	7.37:g.100679136T>C	ENSP00000302716:p.Val1480Ala	Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	215	208	0.967442	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	237	0.10851648351648352	87	0.17682926829268292	34	0.09392265193370165	30	0.05244755244755245	86	0.11345646437994723	t	1.397	-0.579307	0.03854	0.20631	0.114821	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.09	-2.18	0.07037	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.14438	0.01	B	0.08055	0.003	T	0.41928	-0.9481	8	0.07644	T	0.81	.	2.0054	0.03476	0.2509:0.0:0.3084:0.4408	rs7780935	1480	Q685J3	MUC17_HUMAN	A	1480	ENSP00000302716:V1480A	ENSP00000302716:V1480A	V	+	2	0	MUC17	100465856	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.010000	0.03656	-1.218000	0.02601	0.113000	0.15668	GTT	T|0.875;C|0.125	0.125	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100679136	T	C	100679136	3	2	23	1	0	0	0	0	1	0	0	0	9974	1725	60	2	4449	2	MUC17	7	100679136	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	148	100679136	58459527	1984	18440			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100679390	100679390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgacggtaccagcatgcaaAcctcaacttatagtgaagga	9	10	1	2	rs150982179		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100679390A>G	ENST00000306151.4	+	3	4757	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1565	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)					CAGCATGCAAACCTCAACTTA	0.488																																					p.T1565A		Atlas-SNP	.											MUC17,NS,carcinoma,-2,1	MUC17	804	1	0			c.A4693G						scavenged	.						265	248	254					7																	100679390		2203	4300	6503	SO:0001583	missense	140453	exon3			ATGCAAACCTCAA	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.4693A>G	7.37:g.100679390A>G	ENSP00000302716:p.Thr1565Ala	Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	330	34	0.10303	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.177	-0.639202	0.03557	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.364	0.364	0.16124	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47586	-0.9106	8	0.06236	T	0.91	.	.	.	.	.	1565	Q685J3	MUC17_HUMAN	A	1565	ENSP00000302716:T1565A	ENSP00000302716:T1565A	T	+	1	0	MUC17	100466110	0.012000	0.17670	0.001000	0.08648	0.002000	0.02628	1.128000	0.31369	0.391000	0.25143	0.102000	0.15555	ACC	.	.	weak		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679390	A	G	100679390	3	3	23	1	0	0	0	0	1	0	0	0	9974	43	2	2	4703	2	MUC17	7	100679390	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	254	100679390	58459273	1985	18441			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100679754	100679754	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgccaacctcaacttataCtgaaggaagaactcctttaa					rs4992073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100679754C>G	ENST00000306151.4	+	3	5121	c.5057C>G	c.(5056-5058)aCt>aGt	p.T1686S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1686	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)					TCAACTTATACTGAAGGAAGA	0.468																																					p.T1686S		Atlas-SNP	.											.	MUC17	804	.	0			c.C5057G						PASS	.						191	206	201					7																	100679754		2203	4300	6503	SO:0001583	missense	140453	exon3			CTTATACTGAAGG	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.5057C>G	7.37:g.100679754C>G	ENSP00000302716:p.Thr1686Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	184	120	0.652174	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.307	-0.970357	0.02232	.	.	ENSG00000169876	ENST00000306151	T	0.01963	4.53	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00845	0.0028	N	0.02539	-0.55	0.09310	N	1	B	0.20261	0.043	B	0.08055	0.003	T	0.46062	-0.9218	9	0.05436	T	0.98	.	6.7353	0.23405	0.0:0.4292:0.5708:0.0	rs4992073	1686	Q685J3	MUC17_HUMAN	S	1686	ENSP00000302716:T1686S	ENSP00000302716:T1686S	T	+	2	0	MUC17	100466474	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.458000	0.06737	-0.486000	0.06744	-3.678000	0.00024	ACT	C|0.973;G|0.027	0.027	strong		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679754	C	G	100679754	3	3	23	1	0	0	0	0	1	0	0	0	9974	565	20	4	5067	4	MUC17	7	100679754	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	364	100679754	58458909	1986	18442	388	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100679760	100679760	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacctcaacttatactgaagGaagaactcctttaacaagta					rs73168394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100679760G>A	ENST00000306151.4	+	3	5127	c.5063G>A	c.(5062-5064)gGa>gAa	p.G1688E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1688	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)					TATACTGAAGGAAGAACTCCT	0.478																																					p.G1688E		Atlas-SNP	.											MUC17,caecum,carcinoma,0,2	MUC17	804	2	0			c.G5063A						scavenged	.						187	202	197					7																	100679760		2203	4300	6503	SO:0001583	missense	140453	exon3			CTGAAGGAAGAAC	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.5063G>A	7.37:g.100679760G>A	ENSP00000302716:p.Gly1688Glu	Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	184	52	0.282609	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274900	0.01410	.	.	ENSG00000169876	ENST00000306151	T	0.06068	3.35	0.579	-1.16	0.09678	.	.	.	.	.	T	0.02649	0.0080	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46062	-0.9218	8	0.02654	T	1	.	.	.	.	.	1688	Q685J3	MUC17_HUMAN	E	1688	ENSP00000302716:G1688E	ENSP00000302716:G1688E	G	+	2	0	MUC17	100466480	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.758000	0.00374	-0.992000	0.03472	-1.407000	0.01130	GGA	G|0.989;A|0.011	0.011	strong		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100679760	G	A	100679760	3	1	23	1	0	0	0	0	1	0	0	0	9974	1174	41	2	5073	2	MUC17	7	100679760	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6	100679760	58458903	1987	18443	388	2	11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100679809	100679809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaacaacaccggtggccagCtctgcaatcagcaccctttc	8	15	2	1	rs71525815|rs4992074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100679809C>T	ENST00000306151.4	+	3	5176	c.5112C>T	c.(5110-5112)agC>agT	p.S1704S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1704	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)					CGGTGGCCAGCTCTGCAATCA	0.483													T|||	1178	0.235224	0.3396	0.1023	5008	,	,		24513	0.253		0.1213	False		,,,				2504	0.2873				p.S1704S		Atlas-SNP	.											.	MUC17	804	.	0			c.C5112T						PASS	.	T		1324,3082	695.5+/-405.9	207,910,1086	188	203	198		5112	-1.2	0	7	dbSNP_113	198	999,7601	773.3+/-407.7	57,885,3358	no	coding-synonymous	MUC17	NM_001040105.1		264,1795,4444	TT,TC,CC		11.6163,30.0499,17.861		1704/4494	100679809	2323,10683	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			GGCCAGCTCTGCA	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.5112C>T	7.37:g.100679809C>T		Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	187	186	0.994652	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.823;T|0.177	0.177	strong		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679809	C	T	100679809	2	4	23	1	0	0	0	0	0	0	0	1	9974	796	28	2		2	MUC17	7	100679809	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	49	100679809	58458854	1988	18444			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680017	100680017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaccctttcagcaactcctAttgacaccagcacccctgtg	6	17	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680017A>G	ENST00000306151.4	+	3	5384	c.5320A>G	c.(5320-5322)Att>Gtt	p.I1774V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1774	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)					AGCAACTCCTATTGACACCAG	0.493																																					p.I1774V		Atlas-SNP	.											MUC17,right_lower_lobe,carcinoma,-1,1	MUC17	804	1	0			c.A5320G						scavenged	.						279	291	287					7																	100680017		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTCCTATTGACA	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.5320A>G	7.37:g.100680017A>G	ENSP00000302716:p.Ile1774Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	205	11	0.0536585	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.528736	0.00147	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42982	-0.9419	9	0.11794	T	0.64	.	4.2197	0.10552	0.2353:0.4114:0.3533:0.0	.	1774	Q685J3	MUC17_HUMAN	V	1774	ENSP00000302716:I1774V	ENSP00000302716:I1774V	I	+	1	0	MUC17	100466737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.563000	0.00430	-4.292000	0.00058	-3.891000	0.00017	ATT	.	.	none		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100680017	A	G	100680017	3	3	23	1	0	0	0	0	1	0	0	0	9974	449	16	2	5330	2	MUC17	7	100680017	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	208	100680017	58458646	1989	18445			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680120	100680120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactcttagtgaaggaatgaCtccattaacaagcacacctg	8	10	1	2	rs147991653	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680120C>A	ENST00000306151.4	+	3	5487	c.5423C>A	c.(5422-5424)aCt>aAt	p.T1808N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1808	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)	p.T1808N(1)		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)					GAAGGAATGACTCCATTAACA	0.512													-|||	4	0.000798722	0.0008	0.0	5008	,	,		25905	0.003		0.0	False		,,,				2504	0.0				p.T1808N		Atlas-SNP	.											MUC17,extremity,malignant_melanoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	skin(1)	c.C5423A						scavenged	.						246	249	248					7																	100680120		2203	4300	6503	SO:0001583	missense	140453	exon3			GAATGACTCCATT	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.5423C>A	7.37:g.100680120C>A	ENSP00000302716:p.Thr1808Asn	Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	338	49	0.14497	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	76	0.0347985347985348	28	0.056910569105691054	21	0.058011049723756904	12	0.02097902097902098	15	0.01978891820580475	c	0.142	-1.100945	0.01843	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.471	-0.615	0.11587	.	.	.	.	.	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	B	0.40677	0.337	T	0.51988	-0.8635	8	0.32370	T	0.25	.	.	.	.	.	1808	Q685J3	MUC17_HUMAN	N	1808	ENSP00000302716:T1808N	ENSP00000302716:T1808N	T	+	2	0	MUC17	100466840	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.305000	0.19254	-0.243000	0.09653	-1.404000	0.01136	ACT	C|0.975;A|0.025	0.025	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680120	C	A	100680120	3	1	23	1	0	0	0	0	1	0	0	0	9974	565	20	4	5433	4	MUC17	7	100680120	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	103	100680120	58458543	1990	18446			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680370	100680370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaccctttcaacaactccCgctgtcaccagcacacctgt	4	18	2	0	rs201762013|rs10257974	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680370C>T	ENST00000306151.4	+	3	5737	c.5673C>T	c.(5671-5673)ccC>ccT	p.P1891P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1891	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)					CAACAACTCCCGCTGTCACCA	0.502													-|||	800	0.159744	0.2814	0.0879	5008	,	,		24145	0.0972		0.1193	False		,,,				2504	0.1524				p.P1891P		Atlas-SNP	.											.	MUC17	804	.	0			c.C5673T						PASS	.	T		1063,3333		193,677,1328	237	251	246		5673	-0.2	0	7	dbSNP_119	246	987,7613		56,875,3369	no	coding-synonymous	MUC17	NM_001040105.1		249,1552,4697	TT,TC,CC		11.4767,24.1811,15.7741		1891/4494	100680370	2050,10946	2198	4300	6498	SO:0001819	synonymous_variant	140453	exon3			AACTCCCGCTGTC	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.5673C>T	7.37:g.100680370C>T		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	233	228	0.978541	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			C|0.861;T|0.139	0.139	strong		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100680370	C	T	100680370	2	4	23	1	0	0	0	0	0	0	0	1	9974	639	23	1		1	MUC17	7	100680370	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	250	100680370	58458293	1991	18447			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680438	100680438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctacaactgctgacggtaGcagcatgccaacctcaactc	7	15	1	1	rs112926140		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680438G>C	ENST00000306151.4	+	3	5805	c.5741G>C	c.(5740-5742)aGc>aCc	p.S1914T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	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)					GCTGACGGTAGCAGCATGCCA	0.493																																					p.S1914T		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+1,1	MUC17	804	1	0			c.G5741C						scavenged	.						249	250	250					7																	100680438		2203	4300	6503	SO:0001583	missense	140453	exon3			ACGGTAGCAGCAT	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.5741G>C	7.37:g.100680438G>C	ENSP00000302716:p.Ser1914Thr	Somatic	167	2	0.011976		WXS	Illumina HiSeq	Phase_I	209	16	0.076555	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.074	-1.195664	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	1.2251	0.01932	0.1506:0.3181:0.2997:0.2316	.	1914	Q685J3	MUC17_HUMAN	T	1914	ENSP00000302716:S1914T	ENSP00000302716:S1914T	S	+	2	0	MUC17	100467158	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.876000	0.04201	-3.962000	0.00087	-1.848000	0.00571	AGC	A|0.001;G|0.999	.	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680438	G	C	100680438	3	2	23	1	0	0	0	0	1	0	0	0	9974	971	34	4	5751	4	MUC17	7	100680438	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	68	100680438	58458225	1992	18448			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680463	100680463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccaacctcaactcctagGgaaggaaggcctccattaac	8	13	1	0	rs368849364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680463G>T	ENST00000306151.4	+	3	5830	c.5766G>T	c.(5764-5766)agG>agT	p.R1922S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1922	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)					CAACTCCTAGGGAAGGAAGGC	0.507																																					p.R1922S		Atlas-SNP	.											.	MUC17	804	.	0			c.G5766T						PASS	.						242	242	242					7																	100680463		2203	4300	6503	SO:0001583	missense	140453	exon3			TCCTAGGGAAGGA	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.5766G>T	7.37:g.100680463G>T	ENSP00000302716:p.Arg1922Ser	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	204	19	0.0931373	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.015	-1.561399	0.00903	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	9	0.06494	T	0.89	.	3.4094	0.07353	0.2058:0.0:0.3687:0.4255	.	1922	Q685J3	MUC17_HUMAN	S	1922	ENSP00000302716:R1922S	ENSP00000302716:R1922S	R	+	3	2	MUC17	100467183	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.905000	0.00338	-2.952000	0.00293	-2.056000	0.00403	AGG	.	.	alt		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100680463	G	T	100680463	3	4	23	1	0	0	0	0	1	0	0	0	9974	1223	43	4	5776	4	MUC17	7	100680463	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25	100680463	58458200	1993	18449			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100680939	100680939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgaccaattctactgaagCcagttcatctgcaaccgctg	9	12	3	2	rs36120435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100680939C>A	ENST00000306151.4	+	3	6306	c.6242C>A	c.(6241-6243)gCc>gAc	p.A2081D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2081	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)					TCTACTGAAGCCAGTTCATCT	0.498													C|||	612	0.122204	0.1997	0.0821	5008	,	,		26174	0.0665		0.1173	False		,,,				2504	0.1084				p.A2081D		Atlas-SNP	.											.	MUC17	804	.	0			c.C6242A						PASS	.	C	ASP/ALA	775,3631	314.9+/-293.9	64,647,1492	172	170	171		6242	-1.2	0	7	dbSNP_126	171	983,7617	213.1+/-253.2	56,871,3373	no	missense	MUC17	NM_001040105.1	126	120,1518,4865	AA,AC,CC		11.4302,17.5897,13.5168	benign	2081/4494	100680939	1758,11248	2203	4300	6503	SO:0001583	missense	140453	exon3			CTGAAGCCAGTTC	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.6242C>A	7.37:g.100680939C>A	ENSP00000302716:p.Ala2081Asp	Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	144	143	0.993056	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	220	0.10073260073260074	70	0.14227642276422764	34	0.09392265193370165	29	0.050699300699300696	87	0.11477572559366754	c	3.462	-0.109758	0.06924	0.175897	0.114302	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.589	-1.18	0.09617	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.49483	P	2.0900000000001473E-4	B	0.14438	0.01	B	0.08055	0.003	T	0.46735	-0.9170	8	0.21540	T	0.41	.	5.2138	0.15332	0.3336:0.6663:0.0:0.0	.	2081	Q685J3	MUC17_HUMAN	D	2081	ENSP00000302716:A2081D	ENSP00000302716:A2081D	A	+	2	0	MUC17	100467659	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.240000	0.08952	-0.374000	0.07967	0.134000	0.15878	GCC	C|0.880;A|0.120	0.120	strong		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680939	C	A	100680939	3	1	23	1	0	0	0	0	1	0	0	0	9974	739	26	4	6252	4	MUC17	7	100680939	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	476	100680939	58457724	1994	18450			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100681172	100681172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacctcaacttatagtgacAgaagaactcctttaacaagt	5	9	1	3	rs28555173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100681172A>G	ENST00000306151.4	+	3	6539	c.6475A>G	c.(6475-6477)Aga>Gga	p.R2159G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2159	59 X approximate tandem repeats.|Ser-rich.		R -> G (in dbSNP:rs61382267).		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)					TTATAGTGACAGAAGAACTCC	0.468													G|||	1192	0.238019	0.351	0.1023	5008	,	,		26575	0.251		0.1213	False		,,,				2504	0.2883				p.R2159G		Atlas-SNP	.											.	MUC17	804	.	0			c.A6475G						PASS	.	G	GLY/ARG	1346,3060	692.8+/-405.6	209,928,1066	223	221	222		6475	-1.6	0	7	dbSNP_125	222	998,7602	773.4+/-407.7	56,886,3358	yes	missense	MUC17	NM_001040105.1	125	265,1814,4424	GG,GA,AA		11.6047,30.5493,18.0225	benign	2159/4494	100681172	2344,10662	2203	4300	6503	SO:0001583	missense	140453	exon3			AGTGACAGAAGAA	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.6475A>G	7.37:g.100681172A>G	ENSP00000302716:p.Arg2159Gly	Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	222	219	0.986486	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	427	0.1955128205128205	158	0.32113821138211385	42	0.11602209944751381	138	0.24125874125874125	89	0.11741424802110818	G	0.045	-1.267844	0.01433	0.305493	0.116047	ENSG00000169876	ENST00000306151	T	0.02863	4.13	0.791	-1.58	0.08479	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.21821	0.061	B	0.11329	0.006	T	0.33394	-0.9870	8	0.09843	T	0.71	.	3.0068	0.06031	0.457:0.0:0.3444:0.1986	rs61382267	2159	Q685J3	MUC17_HUMAN	G	2159	ENSP00000302716:R2159G	ENSP00000302716:R2159G	R	+	1	2	MUC17	100467892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.438000	0.06905	-2.952000	0.00293	-3.178000	0.00056	AGA	A|0.823;G|0.177	0.177	strong		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100681172	A	G	100681172	3	3	23	1	0	0	0	0	1	0	0	0	9974	180	7	3	6485	3	MUC17	7	100681172	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	233	100681172	58457491	1995	18451			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100681303	100681303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgaagcccgttcatctccTacaacttctgaaggtaccag	7	13	3	2	rs143516283		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100681303T>C	ENST00000306151.4	+	3	6670	c.6606T>C	c.(6604-6606)ccT>ccC	p.P2202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2202	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)					GTTCATCTCCTACAACTTCTG	0.507																																					p.P2202P		Atlas-SNP	.											MUC17,rectum,carcinoma,0,1	MUC17	804	1	0			c.T6606C						PASS	.						311	311	311					7																	100681303		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			ATCTCCTACAACT	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.6606T>C	7.37:g.100681303T>C		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	245	40	0.163265	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.	.	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681303	T	C	100681303	2	2	23	1	0	0	0	0	0	0	0	1	9974	1509	53	3		3	MUC17	7	100681303	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	131	100681303	58457360	1996	18452			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100681345	100681345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccaacctcaactcctagTgaaggaagcactccattcac	6	14	2	1	rs142097516		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100681345T>G	ENST00000306151.4	+	3	6712	c.6648T>G	c.(6646-6648)agT>agG	p.S2216R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2216	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)					CAACTCCTAGTGAAGGAAGCA	0.507																																					p.S2216R		Atlas-SNP	.											.	MUC17	804	.	0			c.T6648G						PASS	.						343	338	340					7																	100681345		2203	4300	6503	SO:0001583	missense	140453	exon3			TCCTAGTGAAGGA	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.6648T>G	7.37:g.100681345T>G	ENSP00000302716:p.Ser2216Arg	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	249	23	0.0923695	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	2.901	-0.227411	0.06022	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	1.11	-2.01	0.07410	.	.	.	.	.	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.13407	0.009	T	0.49351	-0.8949	9	0.18710	T	0.47	.	4.0824	0.09932	0.3049:0.0:0.0:0.695	.	2216	Q685J3	MUC17_HUMAN	R	2216	ENSP00000302716:S2216R	ENSP00000302716:S2216R	S	+	3	2	MUC17	100468065	0.013000	0.17824	0.006000	0.13384	0.003000	0.03518	-0.741000	0.04855	0.459000	0.27016	0.113000	0.15668	AGT	.	.	weak		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100681345	T	G	100681345	3	3	23	1	0	0	0	0	1	0	0	0	9974	1693	59	5	6658	5	MUC17	7	100681345	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	42	100681345	58457318	1997	18453			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100681444	100681444	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcctgttgacaccagcacAcctgtgaccacttctactga	6	15	1	3	rs201002287	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100681444A>C	ENST00000306151.4	+	3	6811	c.6747A>C	c.(6745-6747)acA>acC	p.T2249T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2249	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)					ACACCAGCACACCTGTGACCA	0.483													A|||	16	0.00319489	0.0106	0.0	5008	,	,		26727	0.002		0.0	False		,,,				2504	0.0				p.T2249T		Atlas-SNP	.											MUC17,caecum,carcinoma,0,2	MUC17	804	2	0			c.A6747C						scavenged	.						299	300	300					7																	100681444		2203	4298	6501	SO:0001819	synonymous_variant	140453	exon3			CAGCACACCTGTG	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.6747A>C	7.37:g.100681444A>C		Somatic	157	5	0.0318471		WXS	Illumina HiSeq	Phase_I	230	16	0.0695652	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			A|0.999;C|0.001	0.001	weak		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681444	A	C	100681444	2	2	23	1	0	0	0	0	0	0	0	1	9974	146	6	5		5	MUC17	7	100681444	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	99	100681444	58457219	1998	18454			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100681917	100681917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtgtgcctgtcagcaccaTgccggtggtcagttctgagg	14	10	3	1	rs111633703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100681917T>G	ENST00000306151.4	+	3	7284	c.7220T>G	c.(7219-7221)aTg>aGg	p.M2407R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2407	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)					GTCAGCACCATGCCGGTGGTC	0.507																																					p.M2407R		Atlas-SNP	.											.	MUC17	804	.	0			c.T7220G						PASS	.						383	363	370					7																	100681917		2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCATGCCGGT	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.7220T>G	7.37:g.100681917T>G	ENSP00000302716:p.Met2407Arg	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	326	16	0.0490798	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.819708	0.00595	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.679	-1.36	0.09085	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.35139	0.486	B	0.22601	0.04	T	0.50311	-0.8843	9	0.17832	T	0.49	.	7.4277	0.27109	0.0:0.7775:0.0:0.2225	.	2407	Q685J3	MUC17_HUMAN	R	2407	ENSP00000302716:M2407R	ENSP00000302716:M2407R	M	+	2	0	MUC17	100468637	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.128000	0.10531	-1.293000	0.02362	-1.602000	0.00811	ATG	T|0.996;C|0.004	.	alt		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100681917	T	G	100681917	3	3	23	1	0	0	0	0	1	0	0	0	9974	1464	51	5	7230	5	MUC17	7	100681917	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	473	100681917	58456746	1999	18455			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100682094	100682094	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtatgcctgtcagcaccaCgccggtggtcagttctgagg	13	11	3	1	rs534020799		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100682094C>G	ENST00000306151.4	+	3	7461	c.7397C>G	c.(7396-7398)aCg>aGg	p.T2466R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2466	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)	p.T2466M(1)		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)					GTCAGCACCACGCCGGTGGTC	0.522																																					p.T2466R		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	1	Substitution - Missense(1)	kidney(1)	c.C7397G						scavenged	.						330	326	327					7																	100682094		2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCACGCCGGT	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.7397C>G	7.37:g.100682094C>G	ENSP00000302716:p.Thr2466Arg	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	249	8	0.0321285	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	4.341	0.062759	0.08388	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.43	-2.86	0.05717	.	.	.	.	.	T	0.01523	0.0049	L	0.34521	1.04	0.09310	N	1	P	0.39376	0.67	B	0.19946	0.027	T	0.35699	-0.9778	9	0.26408	T	0.33	.	3.3894	0.07283	0.1815:0.4835:0.0:0.335	.	2466	Q685J3	MUC17_HUMAN	R	2466	ENSP00000302716:T2466R	ENSP00000302716:T2466R	T	+	2	0	MUC17	100468814	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.065000	0.14466	-2.607000	0.00447	-3.221000	0.00052	ACG	.	.	none		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100682094	C	G	100682094	3	3	23	1	0	0	0	0	1	0	0	0	9974	536	19	4	7407	4	MUC17	7	100682094	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	177	100682094	58456569	2000	18456			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100682117	100682117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtggtcagttctgaggctGgcaccctttccacaactcct	10	14	2	1	rs555953599	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100682117G>A	ENST00000306151.4	+	3	7484	c.7420G>A	c.(7420-7422)Ggc>Agc	p.G2474S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2474	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)					TTCTGAGGCTGGCACCCTTTC	0.522													N|||	3	0.000599042	0.0	0.0	5008	,	,		27478	0.0		0.0	False		,,,				2504	0.0031				p.G2474S		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,-2,1	MUC17	804	1	0			c.G7420A						scavenged	.																																			SO:0001583	missense	140453	exon3			GAGGCTGGCACCC	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.7420G>A	7.37:g.100682117G>A	ENSP00000302716:p.Gly2474Ser	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	238	15	0.0630252	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	2.617	-0.289370	0.05605	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.869	-0.297	0.12820	.	.	.	.	.	T	0.01254	0.0041	N	0.02916	-0.46	0.09310	N	1	B	0.27286	0.174	B	0.19148	0.024	T	0.45131	-0.9282	9	0.02654	T	1	.	5.8185	0.18514	0.4085:0.0:0.5915:0.0	.	2474	Q685J3	MUC17_HUMAN	S	2474	ENSP00000302716:G2474S	ENSP00000302716:G2474S	G	+	1	0	MUC17	100468837	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.476000	0.06591	-0.655000	0.05387	-1.616000	0.00795	GGC	.	.	none		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100682117	G	A	100682117	3	1	23	1	0	0	0	0	1	0	0	0	9974	1348	47	2	7430	2	MUC17	7	100682117	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23	100682117	58456546	2001	18457			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100682814	100682814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcaccacgctgttggccaAttctgaggctagcacccttt	9	14	1	1	rs201007776		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100682814A>G	ENST00000306151.4	+	3	8181	c.8117A>G	c.(8116-8118)aAt>aGt	p.N2706S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2706	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)					CTGTTGGCCAATTCTGAGGCT	0.493																																					p.N2706S		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	0			c.A8117G						scavenged	.						245	255	251					7																	100682814		2203	4300	6503	SO:0001583	missense	140453	exon3			TGGCCAATTCTGA	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.8117A>G	7.37:g.100682814A>G	ENSP00000302716:p.Asn2706Ser	Somatic	139	2	0.0143885		WXS	Illumina HiSeq	Phase_I	198	15	0.0757576	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274581	0.01410	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.37	-0.741	0.11112	.	.	.	.	.	T	0.00754	0.0025	N	0.02539	-0.55	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43065	-0.9414	9	0.06236	T	0.91	.	0.1449	0.00087	0.2508:0.246:0.2581:0.2451	.	2706	Q685J3	MUC17_HUMAN	S	2706	ENSP00000302716:N2706S	ENSP00000302716:N2706S	N	+	2	0	MUC17	100469534	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.783000	0.04638	-2.048000	0.00907	-1.389000	0.01157	AAT	A|0.999;G|0.001	0.001	weak		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100682814	A	G	100682814	3	3	23	1	0	0	0	0	1	0	0	0	9974	101	4	2	8127	2	MUC17	7	100682814	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	697	100682814	58455849	2002	18458			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100684550	100684550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggaagcactccattaacaAgtatgcctgtcagcaccaca	7	12	1	0	rs35090328	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100684550A>G	ENST00000306151.4	+	3	9917	c.9853A>G	c.(9853-9855)Agt>Ggt	p.S3285G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3285	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)					TCCATTAACAAGTATGCCTGT	0.507													A|||	483	0.0964457	0.1188	0.0764	5008	,	,		28559	0.0615		0.1133	False		,,,				2504	0.0992				p.S3285G		Atlas-SNP	.											.	MUC17	804	.	0			c.A9853G						PASS	.	A	GLY/SER	470,3936		9,452,1742	342	338	339		9853	-2.2	0	7	dbSNP_126	339	950,7650		23,904,3373	no	missense	MUC17	NM_001040105.1	56	32,1356,5115	GG,GA,AA		11.0465,10.6673,10.918	possibly-damaging	3285/4494	100684550	1420,11586	2203	4300	6503	SO:0001583	missense	140453	exon3			TTAACAAGTATGC	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.9853A>G	7.37:g.100684550A>G	ENSP00000302716:p.Ser3285Gly	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	218	185	0.848624	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	180	0.08241758241758242	39	0.07926829268292683	31	0.0856353591160221	28	0.04895104895104895	82	0.10817941952506596	a	3.445	-0.113248	0.06881	0.106673	0.110465	ENSG00000169876	ENST00000306151	T	0.02579	4.24	1.46	-2.19	0.07015	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	P	0.37985	0.613	B	0.37047	0.24	T	0.43212	-0.9405	9	0.20519	T	0.43	.	2.3573	0.04299	0.342:0.0:0.4041:0.2539	rs35090328;rs58812832	3285	Q685J3	MUC17_HUMAN	G	3285	ENSP00000302716:S3285G	ENSP00000302716:S3285G	S	+	1	0	MUC17	100471270	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.627000	0.05521	-0.483000	0.06772	0.165000	0.16767	AGT	A|0.904;G|0.096	0.096	strong		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100684550	A	G	100684550	3	3	23	1	0	0	0	0	1	0	0	0	9974	72	3	3	9863	3	MUC17	7	100684550	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1736	100684550	58454113	2003	18459			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100684573	100684573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcctgtcagcaccacaacGgtggccagttctgaaacgag	11	12	2	1	rs144023476	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317				p.T3292T		Atlas-SNP	.											MUC17,NS,haematopoietic_neoplasm,0,1	MUC17	804	1	0			c.G9876A						scavenged	.	G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACAACGGTGGCC	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.9876G>A	7.37:g.100684573G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	207	22	0.10628	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			G|0.984;A|0.016	0.016	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	23	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23	100684573	58454090	2004	18460			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100684593	100684593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggccagttctgaaacgaGcaccctttcaacaactcctg	9	13	2	1	rs35988443	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100684593G>A	ENST00000306151.4	+	3	9960	c.9896G>A	c.(9895-9897)aGc>aAc	p.S3299N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3299	59 X approximate tandem repeats.|Ser-rich.		S -> N (in dbSNP:rs35988443).		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)					TCTGAAACGAGCACCCTTTCA	0.512													G|||	563	0.11242	0.1634	0.0807	5008	,	,		26032	0.0665		0.1173	False		,,,				2504	0.1084				p.S3299N		Atlas-SNP	.											.	MUC17	804	.	0			c.G9896A						PASS	.	G	ASN/SER	640,3766	275.4+/-272.5	43,554,1606	307	314	312		9896	-1.5	0	7	dbSNP_126	312	987,7613	213.6+/-253.5	57,873,3370	no	missense	MUC17	NM_001040105.1	46	100,1427,4976	AA,AG,GG		11.4767,14.5256,12.5096	possibly-damaging	3299/4494	100684593	1627,11379	2203	4300	6503	SO:0001583	missense	140453	exon3			AAACGAGCACCCT	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.9896G>A	7.37:g.100684593G>A	ENSP00000302716:p.Ser3299Asn	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	186	182	0.978495	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	213	0.09752747252747253	65	0.13211382113821138	32	0.08839779005524862	29	0.050699300699300696	87	0.11477572559366754	g	0.265	-0.996778	0.02145	0.145256	0.114767	ENSG00000169876	ENST00000306151	T	0.02121	4.44	0.754	-1.51	0.08664	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.13594	0.008	B	0.15870	0.014	T	0.46275	-0.9203	8	0.24483	T	0.36	.	3.8023	0.08763	0.2104:0.2466:0.543:0.0	rs35988443;rs58884530	3299	Q685J3	MUC17_HUMAN	N	3299	ENSP00000302716:S3299N	ENSP00000302716:S3299N	S	+	2	0	MUC17	100471313	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.085000	0.11250	-1.089000	0.03073	0.134000	0.15878	AGC	G|0.888;A|0.112	0.112	strong		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684593	G	A	100684593	3	1	23	1	0	0	0	0	1	0	0	0	9974	971	34	2	9906	2	MUC17	7	100684593	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20	100684593	58454070	2005	18461			11	80	24605474	56	48	9218	N	T_G_C_A	1.524645e-53
MUC17	140453	hgsc.bcm.edu	37	chr7	100695138	100695138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacttcgtagtggagtaccGggaccagaagccatactgca	11	11	0	1	rs73168398	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100695138G>A	ENST00000306151.4	+	9	13062	c.12998G>A	c.(12997-12999)cGg>cAg	p.R4333Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4333					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)					GTGGAGTACCGGGACCAGAAG	0.572													G|||	536	0.107029	0.1021	0.0778	5008	,	,		19865	0.124		0.1143	False		,,,				2504	0.1094				p.R4333Q		Atlas-SNP	.											.	MUC17	804	.	0			c.G12998A						PASS	.	G	GLN/ARG	479,3927	226.2+/-241.8	25,429,1749	160	143	149		12998	0.1	0	7	dbSNP_130	149	936,7664	206.8+/-248.7	54,828,3418	yes	missense	MUC17	NM_001040105.1	43	79,1257,5167	AA,AG,GG		10.8837,10.8715,10.8796	benign	4333/4494	100695138	1415,11591	2203	4300	6503	SO:0001583	missense	140453	exon9			AGTACCGGGACCA	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.12998G>A	7.37:g.100695138G>A	ENSP00000302716:p.Arg4333Gln	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	184	182	0.98913	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	217	0.09935897435897435	32	0.06504065040650407	27	0.07458563535911603	70	0.12237762237762238	88	0.11609498680738786	G	7.977	0.750437	0.15778	0.108715	0.108837	ENSG00000169876	ENST00000306151	T	0.43294	0.95	4.17	0.0575	0.14323	.	.	.	.	.	T	0.00144	0.0004	N	0.00926	-1.1	0.80722	P	0.0	B	0.32203	0.36	B	0.15052	0.012	T	0.23904	-1.0175	8	0.18710	T	0.47	.	6.1801	0.20465	0.6597:0.0:0.3403:0.0	.	4333	Q685J3	MUC17_HUMAN	Q	4333	ENSP00000302716:R4333Q	ENSP00000302716:R4333Q	R	+	2	0	MUC17	100481858	0.001000	0.12720	0.043000	0.18650	0.012000	0.07955	-0.054000	0.11826	-0.016000	0.14127	-0.658000	0.03865	CGG	G|0.898;A|0.102	0.102	strong		0.572	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100695138	G	A	100695138	3	1	23	1	0	0	0	0	1	0	0	0	9974	1116	39	1	13032	1	MUC17	7	100695138	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10545	100695138	58443525	2006	18462										
TRIM56	81844	hgsc.bcm.edu	37	chr7	100730707	100730707	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagacactgccctgcctgcaTacctactgccaagactgcct	7	16	0	2	rs372702476		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100730707T>C	ENST00000306085.6	+	3	411	c.114T>C	c.(112-114)caT>caC	p.H38H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	38					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCCTGCATACCTACTGCC	0.687																																					p.H38H	Ovarian(89;1092 1379 22756 38989 39611)	Atlas-SNP	.											.	TRIM56	123	.	0			c.T114C						PASS	.	T		0,4242		0,0,2121	51	62	58		114	-1.4	1	7		58	2,8486		0,2,4242	no	coding-synonymous	TRIM56	NM_030961.1		0,2,6363	CC,CT,TT		0.0236,0.0,0.0157		38/756	100730707	2,12728	2121	4244	6365	SO:0001819	synonymous_variant	81844	exon3			CCTGCATACCTAC	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.114T>C	7.37:g.100730707T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	67	20	0.298507	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			.	.	weak		0.687	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		C	100730707	T	C	100730707	2	2	23	1	0	0	0	0	0	0	0	1	16527	1403	49	2		2	TRIM56	7	100730707	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	35569	100730707	58407956	2007	18463										
TRIM56	81844	hgsc.bcm.edu	37	chr7	100732321	100732321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctatctcatcaaccccaaCggcgaagtgcagtggcgcag	10	14	3	0	rs11760747	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100732321C>T	ENST00000306085.6	+	3	2025	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	576					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCCCAACGGCGAAGTGC	0.726													C|||	906	0.180911	0.3366	0.1052	5008	,	,		15445	0.1379		0.1312	False		,,,				2504	0.1196				p.N576N	Ovarian(89;1092 1379 22756 38989 39611)	Atlas-SNP	.											.	TRIM56	123	.	0			c.C1728T						PASS	.	C		1162,3026		169,824,1101	56	62	60		1728	-7.4	0	7	dbSNP_120	60	996,7416		54,888,3264	no	coding-synonymous	TRIM56	NM_030961.1		223,1712,4365	TT,TC,CC		11.8402,27.7459,17.127		576/756	100732321	2158,10442	2094	4206	6300	SO:0001819	synonymous_variant	81844	exon3			CCCCAACGGCGAA	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1728C>T	7.37:g.100732321C>T		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	17	17	1	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			C|0.857;T|0.143	0.143	strong		0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		T	100732321	C	T	100732321	2	4	23	1	0	0	0	0	0	0	0	1	16527	535	19	1		1	TRIM56	7	100732321	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1614	100732321	58406342	2008	18464										
SERPINE1	5054	hgsc.bcm.edu	37	chr7	100771717	100771717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcctagtcctgggcctgGcccttgtctttggtgaaggg	14	12	1	1	rs6092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100771717G>A	ENST00000223095.4	+	2	200	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A15T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	15			A -> T (in dbSNP:rs6092). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:9194591, ECO:0000269|Ref.8}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTGGGCCTGGCCCTTGTCTT	0.607													G|||	358	0.0714856	0.0023	0.0807	5008	,	,		20984	0.0972		0.0984	False		,,,				2504	0.1043				p.A15T		Atlas-SNP	.											.	SERPINE1	60	.	0			c.G43A	GRCh37	CM055540	SERPINE1	M	rs6092	PASS	.	G	THR/ALA,THR/ALA	101,4305	80.4+/-118.8	1,99,2103	126	97	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	43,43	3.9	1	7	dbSNP_52	107	1008,7592	216.6+/-255.6	59,890,3351	yes	missense,missense	SERPINE1	NM_000602.3,NM_001165413.1	58,58	60,989,5454	AA,AG,GG		11.7209,2.2923,8.5268	benign,benign	15/403,15/388	100771717	1109,11897	2203	4300	6503	SO:0001583	missense	5054	exon2			GGCCTGGCCCTTG	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.43G>A	7.37:g.100771717G>A	ENSP00000223095:p.Ala15Thr	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	83	51	0.614458	NM_000602	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	157	0.07188644688644688	2	0.0040650406504065045	31	0.0856353591160221	55	0.09615384615384616	69	0.09102902374670185	G	10.79	1.450758	0.26074	0.022923	0.117209	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.85629	-1.83;-2.01	4.84	3.88	0.44766	Serpin domain (1);	0.549688	0.17694	N	0.165180	T	0.02533	0.0077	N	0.08118	0	0.46849	P	7.789999999999742E-4	P;B	0.36633	0.562;0.281	B;B	0.38500	0.275;0.06	T	0.48103	-0.9064	9	0.30854	T	0.27	.	9.6714	0.40015	0.0:0.0:0.7929:0.2071	rs6092;rs11553531;rs52825313;rs6092	15;15	F8WD53;P05121	.;PAI1_HUMAN	T	15	ENSP00000223095:A15T;ENSP00000396766:A15T	ENSP00000223095:A15T	A	+	1	0	SERPINE1	100558437	1.000000	0.71417	0.999000	0.59377	0.110000	0.19582	0.686000	0.25392	2.622000	0.88805	0.655000	0.94253	GCC	G|0.914;A|0.086	0.086	strong		0.607	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		A	100771717	G	A	100771717	3	1	23	1	0	0	0	0	1	0	0	0	14111	1203	42	2	45	2	SERPINE1	7	100771717	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39396	100771717	58366946	2009	18465										
C7orf52	375607	hgsc.bcm.edu	37	chr7	100815816	100815816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgccacgtcgccgcctgcCtcggacacggcctcggtggg	15	17	0	0	rs12540617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:100815816C>T	ENST00000300303.2	-	4	892	c.654G>A	c.(652-654)gaG>gaA	p.E218E	NAT16_ENST00000455377.1_Silent_p.E218E	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	218							N-acetyltransferase activity (GO:0008080)										CGCCGCCTGCCTCGGACACGG	0.731													C|||	314	0.0626997	0.0023	0.3098	5008	,	,		13813	0.0258		0.0378	False		,,,				2504	0.0327				p.E218E		Atlas-SNP	.											.	.	.	.	0			c.G654A						PASS	.	C		50,4010		0,50,1980	7	7	7		654	2.2	0.1	7	dbSNP_120	7	354,7714		11,332,3691	no	coding-synonymous	C7orf52	NM_198571.2		11,382,5671	TT,TC,CC		4.3877,1.2315,3.3311		218/370	100815816	404,11724	2030	4034	6064	SO:0001819	synonymous_variant	375607	exon4			GCCTGCCTCGGAC	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.654G>A	7.37:g.100815816C>T		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_198571	B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	CCDS5713.1																																																																																			C|0.940;T|0.060	0.060	strong		0.731	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		T	100815816	C	T	100815816	2	4	23	1	0	0	0	0	0	0	0	1	2401	680	24	2		2	C7orf52	7	100815816	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	44099	100815816	58322847	2010	18466										
RELN	5649	hgsc.bcm.edu	37	chr7	103292201	103292201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtgtgaaggagggaccagGagcgcccatggttggtagaa	17	7	0	2	rs78008536	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:103292201G>A	ENST00000428762.1	-	15	1958	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	RELN_ENST00000343529.5_Missense_Mutation_p.S600F|RELN_ENST00000424685.2_Missense_Mutation_p.S600F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	600					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAGGGACCAGGAGCGCCCATG	0.473													G|||	30	0.00599042	0.0008	0.013	5008	,	,		15954	0.0		0.0169	False		,,,				2504	0.0031				p.S600F	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.C1799T						PASS	.	G	PHE/SER,PHE/SER	12,4394	19.1+/-41.9	0,12,2191	72	58	63		1799,1799	5.8	1	7	dbSNP_131	63	130,8470	66.3+/-128.7	1,128,4171	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	155,155	1,140,6362	AA,AG,GG		1.5116,0.2724,1.0918	probably-damaging,probably-damaging	600/3461,600/3459	103292201	142,12864	2203	4300	6503	SO:0001583	missense	5649	exon15			GACCAGGAGCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1799C>T	7.37:g.103292201G>A	ENSP00000392423:p.Ser600Phe	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	163	71	0.435583	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	19	0.0086996336996337	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	13	0.017150395778364115	G	26.8	4.768385	0.90020	0.002724	0.015116	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.34072	1.38;1.38;1.38	5.8	5.8	0.92144	.	0.055760	0.85682	D	0.000000	T	0.30947	0.0781	L	0.47016	1.485	0.51767	D	0.999932	P;P	0.52061	0.95;0.612	P;B	0.54238	0.746;0.424	T	0.20907	-1.0261	10	0.87932	D	0	.	15.5384	0.76021	0.0:0.1373:0.8627:0.0	.	600;600	P78509-2;P78509	.;RELN_HUMAN	F	600	ENSP00000392423:S600F;ENSP00000345694:S600F;ENSP00000388446:S600F	ENSP00000345694:S600F	S	-	2	0	RELN	103079437	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.513000	0.81739	2.758000	0.94735	0.563000	0.77884	TCC	G|0.990;A|0.010	0.010	strong		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103292201	G	A	103292201	3	1	23	1	0	0	0	0	1	0	0	0	13220	1174	41	2	8787	2	RELN	7	103292201	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2476385	103292201	55846462	2011	18467										
ZNF277	11179	hgsc.bcm.edu	37	chr7	111981007	111981007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagatgttatggctgccatGtgaagttcaaatccaaagca	10	8	1	2	rs11539696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:111981007G>A	ENST00000361822.3	+	11	1219	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	364			V -> M (in dbSNP:rs11539696).		cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGGCTGCCATGTGAAGTTCAA	0.408													G|||	228	0.0455272	0.0416	0.0331	5008	,	,		14280	0.0248		0.0726	False		,,,				2504	0.0532				p.V364M		Atlas-SNP	.											.	ZNF277	46	.	0			c.G1090A						PASS	.	G	MET/VAL	188,4218	118.8+/-156.5	6,176,2021	107	107	107		1090	-0.1	0	7	dbSNP_120	107	576,8024	153.7+/-208.1	26,524,3750	yes	missense	ZNF277	NM_021994.2	21	32,700,5771	AA,AG,GG		6.6977,4.2669,5.8742	possibly-damaging	364/451	111981007	764,12242	2203	4300	6503	SO:0001583	missense	11179	exon11			TGCCATGTGAAGT	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.1090G>A	7.37:g.111981007G>A	ENSP00000354501:p.Val364Met	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	238	138	0.579832	NM_021994	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	104	0.047619047619047616	19	0.03861788617886179	8	0.022099447513812154	17	0.02972027972027972	60	0.079155672823219	G	11.73	1.725045	0.30593	0.042669	0.066977	ENSG00000198839	ENST00000361822	T	0.44083	0.93	6.03	-0.106	0.13596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	1.181470	0.05958	N	0.640143	T	0.01092	0.0036	N	0.08118	0	0.80722	P	0.0	B	0.31026	0.304	B	0.31016	0.123	T	0.13202	-1.0518	9	0.46703	T	0.11	1.0764	4.44	0.11570	0.2114:0.0989:0.5774:0.1122	rs11539696;rs17492506;rs52818523;rs11539696	364	Q9NRM2	ZN277_HUMAN	M	364	ENSP00000354501:V364M	ENSP00000354501:V364M	V	+	1	0	ZNF277	111768243	0.825000	0.29262	0.000000	0.03702	0.915000	0.54546	0.676000	0.25247	0.057000	0.16193	-0.378000	0.06908	GTG	G|0.943;A|0.057	0.057	strong		0.408	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		A	111981007	G	A	111981007	3	1	23	1	0	0	0	0	1	0	0	0	17809	1377	48	2	1132	2	ZNF277	7	111981007	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8688806	111981007	47157656	2012	18468										
IFRD1	3475	hgsc.bcm.edu	37	chr7	112112279	112112279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttccattggttaggaacgGgattttccaacagaaaccat	8	9	1	1	rs2074796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:112112279G>A	ENST00000403825.3	+	10	1308	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	IFRD1_ENST00000005558.4_Silent_p.R349R|IFRD1_ENST00000535603.1_Silent_p.R299R	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	349					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GTTAGGAACGGGATTTTCCAA	0.378													G|||	1233	0.246206	0.3623	0.1614	5008	,	,		20407	0.1915		0.2525	False		,,,				2504	0.1994				p.R349R		Atlas-SNP	.											IFRD1,NS,carcinoma,+1,2	IFRD1	46	2	0			c.G1047A						scavenged	.	G	,,,	1516,2890	482.1+/-359.3	257,1002,944	118	117	117		1047,897,897,1047	1.7	1	7	dbSNP_96	117	2108,6492	362.6+/-332.8	265,1578,2457	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IFRD1	NM_001007245.2,NM_001197079.1,NM_001197080.1,NM_001550.3	,,,	522,2580,3401	AA,AG,GG		24.5116,34.4076,27.8641	,,,	349/452,299/402,299/402,349/452	112112279	3624,9382	2203	4300	6503	SO:0001819	synonymous_variant	3475	exon11			GGAACGGGATTTT	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1047G>A	7.37:g.112112279G>A		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	159	88	0.553459	NM_001007245	B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	ENST00000403825.3	37	CCDS34736.1																																																																																			G|0.736;A|0.264	0.264	strong		0.378	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		A	112112279	G	A	112112279	2	1	23	1	0	0	0	0	0	0	0	1	7553	1219	43	2		2	IFRD1	7	112112279	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131272	112112279	47026384	2013	18469										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113519637	113519637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataatcttccttagaagatcCttcttctgttgattctttga	5	8	4	4	rs371962450		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:113519637C>G	ENST00000284601.3	-	4	1578	c.1510G>C	c.(1510-1512)Gga>Cga	p.G504R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	504					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGAAGATCCTTCTTCTGTT	0.318																																					p.G504R		Atlas-SNP	.											.	PPP1R3A	317	.	0			c.G1510C						PASS	.						63	60	61					7																	113519637		2203	4299	6502	SO:0001583	missense	5506	exon4			AAGATCCTTCTTC	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1510G>C	7.37:g.113519637C>G	ENSP00000284601:p.Gly504Arg	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	181	53	0.292818	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133935	0.21123	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.29655	2.51;1.56	6.02	2.73	0.32206	.	0.930568	0.09052	N	0.855709	T	0.19604	0.0471	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28586	-1.0039	10	0.13853	T	0.58	-0.2141	9.1988	0.37244	0.0:0.6562:0.0:0.3437	.	504	Q16821	PPR3A_HUMAN	R	504;183	ENSP00000284601:G504R;ENSP00000401278:G183R	ENSP00000284601:G504R	G	-	1	0	PPP1R3A	113306873	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.331000	0.19733	0.826000	0.34661	0.655000	0.94253	GGA	.	.	none		0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		G	113519637	C	G	113519637	3	3	23	1	0	0	0	0	1	0	0	0	12371	690	24	4	1862	4	PPP1R3A	7	113519637	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1407358	113519637	45619026	2014	18470										
TES	26136	hgsc.bcm.edu	37	chr7	115897392	115897392	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcgacccagaagtgcagcgGgtgacctataacaatttcag	10	10	1	2	rs4710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:115897392G>C	ENST00000358204.4	+	7	1337	c.1122G>C	c.(1120-1122)cgG>cgC	p.R374R	TES_ENST00000393481.2_Silent_p.R365R|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Silent_p.R132R|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	374	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAGTGCAGCGGGTGACCTATA	0.463													G|||	1998	0.398962	0.4092	0.3631	5008	,	,		18084	0.5694		0.2952	False		,,,				2504	0.3415				p.R374R		Atlas-SNP	.											TES_ENST00000257721,colon,carcinoma,+1,2	TES	68	2	0			c.G1122C						PASS	.	G	,	1763,2643	524.6+/-371.4	360,1043,800	114	103	107		1122,1095	-3.6	1	7	dbSNP_52	107	2242,6358	379.9+/-339.4	284,1674,2342	no	coding-synonymous,coding-synonymous	TES	NM_015641.3,NM_152829.2	,	644,2717,3142	CC,CG,GG		26.0698,40.0136,30.7935	,	374/422,365/413	115897392	4005,9001	2203	4300	6503	SO:0001819	synonymous_variant	26136	exon7			GCAGCGGGTGACC	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.1122G>C	7.37:g.115897392G>C		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	234	76	0.324786	NM_015641	A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	CCDS5763.1																																																																																			T|0.000;G|0.669;C|0.331	0.331	strong		0.463	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		C	115897392	G	C	115897392	2	2	23	1	0	0	0	0	0	0	0	1	15762	1219	43	4		4	TES	7	115897392	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2377755	115897392	43241271	2015	18471										
MET	4233	hgsc.bcm.edu	37	chr7	116397572	116397572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggccacgggacaacacaAtacagtacattctcctatgt	7	11	1	0	rs13223756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:116397572A>G	ENST00000318493.6	+	7	2131	c.1944A>G	c.(1942-1944)caA>caG	p.Q648Q	MET_ENST00000436117.2_Silent_p.Q648Q|MET_ENST00000397752.3_Silent_p.Q648Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGACAACACAATACAGTACAT	0.318			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A|||	941	0.187899	0.1089	0.1254	5008	,	,		17860	0.2728		0.2048	False		,,,				2504	0.2342				p.Q648Q		Atlas-SNP	.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	MET	412	.	0			c.A1944G						PASS	.	A	,	486,3224		27,432,1396	93	92	92		1944,1944	-6.5	0	7	dbSNP_121	92	1521,6665		129,1263,2701	no	coding-synonymous,coding-synonymous	MET	NM_000245.2,NM_001127500.1	,	156,1695,4097	GG,GA,AA		18.5805,13.0997,16.8712	,	648/1391,648/1409	116397572	2007,9889	1855	4093	5948	SO:0001819	synonymous_variant	4233	exon7	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	AACACAATACAGT	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1944A>G	7.37:g.116397572A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	159	103	0.647799	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																			A|0.817;G|0.183	0.183	strong		0.318	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116397572	A	G	116397572	2	3	23	1	0	0	0	0	0	0	0	1	9485	98	4	2		2	MET	7	116397572	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	500180	116397572	42741091	2016	18472										
CFTR	1080	hgsc.bcm.edu	37	chr7	117199533	117199533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagacttcacttctaatgGtgattatgggagaactggag	11	7	2	3	rs213950|rs397508204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:117199533G>A	ENST00000003084.6	+	11	1540	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	AC000111.3_ENST00000441019.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.V409M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	470	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> M (in dbSNP:rs213950). {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:1710598, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:2475911, ECO:0000269|Ref.3}.		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACTTCTAATGGTGATTATGGG	0.393									Cystic Fibrosis				A|||	2915	0.582069	0.9349	0.513	5008	,	,		17643	0.3869		0.4384	False		,,,				2504	0.5031				p.V470M		Atlas-SNP	.											.	CFTR	171	.	0			c.G1408A	GRCh37	CM034388	CFTR	M	rs213950	PASS	.	A	MET/VAL	3747,659		1586,575,42	102	111	108	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1408	3	1	7	dbSNP_79	108	4026,4574		1025,1976,1299	yes	missense	CFTR	NM_000492.3	21	2611,2551,1341	AA,AG,GG		46.814,14.9569,40.2353	benign	470/1481	117199533	7773,5233	2203	4300	6503	SO:0001583	missense	1080	exon11	Familial Cancer Database	CF	CTAATGGTGATTA	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1408G>A	7.37:g.117199533G>A	ENSP00000003084:p.Val470Met	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	1180	0.5402930402930403	449	0.9126016260162602	192	0.5303867403314917	202	0.3531468531468531	337	0.4445910290237467	A	2.095	-0.407418	0.04832	0.850431	0.46814	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94280	-3.39;-3.39;-3.39	5.47	3.05	0.35203	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.113641	0.85682	N	0.000000	T	0.00012	0.0000	N	0.11341	0.13	0.46279	P	0.0010339999999999794	B	0.02656	0.0	B	0.06405	0.002	T	0.42032	-0.9475	9	0.16420	T	0.52	-17.102	2.8388	0.05523	0.5314:0.1098:0.0703:0.2886	rs213950;rs10360044;rs34570734;rs52833540;rs57055567;rs213950	470	P13569	CFTR_HUMAN	M	470;409;440	ENSP00000003084:V470M;ENSP00000403677:V409M;ENSP00000389119:V440M	ENSP00000003084:V470M	V	+	1	0	CFTR	116986769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	0.103000	0.17682	-0.269000	0.10298	GTG	G|0.436;A|0.564	0.564	strong		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117199533	G	A	117199533	3	1	23	1	0	0	0	0	1	0	0	0	3294	1261	44	2	1450	2	CFTR	7	117199533	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	801961	117199533	41939130	2017	18473										
C7orf58	79974	hgsc.bcm.edu	37	chr7	120737809	120737809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagggaatgcaattaaagCcgagtacttcgagtcacctt	9	9	2	0	rs144805034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:120737809C>T	ENST00000310396.5	+	6	1140	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S	CPED1_ENST00000450913.2_Missense_Mutation_p.P225S|CPED1_ENST00000423795.1_Missense_Mutation_p.P5S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	225						endoplasmic reticulum (GO:0005783)											GCAATTAAAGCCGAGTACTTC	0.428													C|||	5	0.000998403	0.0	0.0	5008	,	,		18641	0.0		0.005	False		,,,				2504	0.0				p.P225S		Atlas-SNP	.											.	.	.	.	0			c.C673T						PASS	.	C	SER/PRO,SER/PRO	6,4400	11.4+/-27.6	0,6,2197	148	144	146		673,673	4.8	0	7	dbSNP_134	146	58,8542	36.4+/-91.3	0,58,4242	yes	missense,missense	C7orf58	NM_001105533.1,NM_024913.4	74,74	0,64,6439	TT,TC,CC		0.6744,0.1362,0.4921	possibly-damaging,possibly-damaging	225/784,225/1027	120737809	64,12942	2203	4300	6503	SO:0001583	missense	79974	exon5			TTAAAGCCGAGTA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.673C>T	7.37:g.120737809C>T	ENSP00000309772:p.Pro225Ser	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	89	73	0.820225	NM_001105533	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	13.55	2.271428	0.40194	0.001362	0.006744	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.43294	0.95;0.95;0.95;2.02;1.61	5.75	4.82	0.62117	.	1.300280	0.04908	N	0.452653	T	0.30324	0.0761	L	0.40543	1.245	0.24671	N	0.993418	P;B;B	0.39216	0.664;0.435;0.116	B;B;B	0.38500	0.275;0.157;0.043	T	0.11767	-1.0574	10	0.18710	T	0.47	-16.7029	11.2559	0.49054	0.1821:0.8179:0.0:0.0	.	5;225;225	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	S	225;225;225;5;5	ENSP00000309772:P225S;ENSP00000398082:P225S;ENSP00000406122:P225S;ENSP00000415573:P5S;ENSP00000391952:P5S	ENSP00000309772:P225S	P	+	1	0	C7orf58	120525045	0.038000	0.19896	0.015000	0.15790	0.699000	0.40488	0.642000	0.24735	2.710000	0.92621	0.557000	0.71058	CCG	C|0.996;T|0.004	0.004	strong		0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		T	120737809	C	T	120737809	3	4	23	1	0	0	0	0	1	0	0	0	2405	739	26	2	691	2	C7orf58	7	120737809	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3538276	120737809	38400854	2018	18474										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121616250	121616250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaatctactgctttgatgcGgaccgattttcaagttttga	8	8	2	2	rs4629793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:121616250G>A	ENST00000393386.2	+	5	891	c.480G>A	c.(478-480)gcG>gcA	p.A160A	PTPRZ1_ENST00000449182.1_Silent_p.A160A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	160	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCTTTGATGCGGACCGATTTT	0.313													g|||	1388	0.277157	0.0514	0.353	5008	,	,		15770	0.3323		0.4722	False		,,,				2504	0.271				p.A160A		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.G480A						PASS	.	A	,,	488,3918	225.9+/-241.6	36,416,1751	110	104	106		480,480,480	-10.9	0	7	dbSNP_111	106	3599,4993	518.5+/-379.3	766,2067,1463	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	802,2483,3214	AA,AG,GG		41.8878,11.0758,31.4433	,,	160/1456,160/1449,160/2316	121616250	4087,8911	2203	4296	6499	SO:0001819	synonymous_variant	5803	exon5			TGATGCGGACCGA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.480G>A	7.37:g.121616250G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	68	51	0.75	NM_001206838	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																			G|0.681;A|0.319	0.319	strong		0.313	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121616250	G	A	121616250	2	1	23	1	0	0	0	0	0	0	0	1	12814	1103	39	1		1	PTPRZ1	7	121616250	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	878441	121616250	37522413	2019	18475										
SPAM1	6677	hgsc.bcm.edu	37	chr7	123594206	123594206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaaaacaagaatttgaaaaGgcagggaaggatttcctggt	12	5	0	2	rs2285996	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:123594206G>A	ENST00000439500.1	+	4	1195	c.582G>A	c.(580-582)aaG>aaA	p.K194K	SPAM1_ENST00000460182.1_Silent_p.K194K|SPAM1_ENST00000402183.2_Silent_p.K194K|SPAM1_ENST00000223028.7_Silent_p.K194K|SPAM1_ENST00000340011.5_Silent_p.K194K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	194					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTTGAAAAGGCAGGGAAGG	0.373													G|||	1237	0.247005	0.1271	0.379	5008	,	,		18479	0.3006		0.2753	False		,,,				2504	0.2311				p.K194K		Atlas-SNP	.											.	SPAM1	195	.	0			c.G582A						PASS	.	G	,,,,	694,3712	273.4+/-271.3	61,572,1570	66	70	69		582,582,582,582,582	0.8	0.1	7	dbSNP_100	69	2407,6193	390.9+/-343.5	325,1757,2218	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	,,,,	386,2329,3788	AA,AG,GG		27.9884,15.7512,23.8428	,,,,	194/510,194/510,194/510,194/512,194/510	123594206	3101,9905	2203	4300	6503	SO:0001819	synonymous_variant	6677	exon3			TGAAAAGGCAGGG	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.582G>A	7.37:g.123594206G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	66	65	0.984848	NM_153189	Q8TC30	Silent	SNP	ENST00000439500.1	37	CCDS5791.1																																																																																			G|0.754;T|0.001	.	strong		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123594206	G	A	123594206	2	1	23	1	0	0	0	0	0	0	0	1	14986	991	35	2		2	SPAM1	7	123594206	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1977956	123594206	35544457	2020	18476										
GRM8	2918	hgsc.bcm.edu	37	chr7	126542667	126542667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccaaaattctcctcccagAattctgcaaaccacacattt	3	14	2	1	rs78124913	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:126542667A>T	ENST00000339582.2	-	6	1893	c.1085T>A	c.(1084-1086)tTc>tAc	p.F362Y	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.F362Y|GRM8_ENST00000444921.2_Missense_Mutation_p.F362Y|GRM8_ENST00000405249.1_Missense_Mutation_p.F362Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	362			F -> Y. {ECO:0000269|Ref.6}.		adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.F362Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTCCTCCCAGAATTCTGCAAA	0.378										HNSCC(24;0.065)			A|||	614	0.122604	0.0098	0.1369	5008	,	,		16946	0.2083		0.1481	False		,,,				2504	0.1503				p.F362Y		Atlas-SNP	.											GRM8,NS,carcinoma,0,1	GRM8	377	1	1	Substitution - Missense(1)	stomach(1)	c.T1085A						PASS	.	A	TYR/PHE,TYR/PHE	135,4271	96.7+/-135.4	5,125,2073	91	90	90		1085,1085	4.9	1	7	dbSNP_131	90	1068,7532	224.5+/-260.9	78,912,3310	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	22,22	83,1037,5383	TT,TA,AA		12.4186,3.064,9.2496	benign,benign	362/909,362/909	126542667	1203,11803	2203	4300	6503	SO:0001583	missense	2918	exon5			TCCCAGAATTCTG		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1085T>A	7.37:g.126542667A>T	ENSP00000344173:p.Phe362Tyr	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	130	31	0.238462	NM_000845	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	292	0.1336996336996337	5	0.01016260162601626	52	0.143646408839779	121	0.21153846153846154	114	0.1503957783641161	A	16.48	3.135052	0.56828	0.03064	0.124186	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.88	4.88	0.63580	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.00271	0.0008	L	0.36672	1.1	0.09310	P	0.999999464699	B;P;B	0.41450	0.077;0.75;0.035	B;P;B	0.45195	0.17;0.473;0.074	T	0.04242	-1.0966	9	0.23302	T	0.38	.	13.6821	0.62491	1.0:0.0:0.0:0.0	rs61755380	362;362;362	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Y	362	ENSP00000344173:F362Y;ENSP00000409790:F362Y;ENSP00000351142:F362Y;ENSP00000385731:F362Y	ENSP00000344173:F362Y	F	-	2	0	GRM8	126329903	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.283000	0.95860	1.827000	0.53221	0.418000	0.28097	TTC	A|0.896;T|0.104	0.104	strong		0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126542667	A	T	126542667	3	4	23	1	0	0	0	0	1	0	0	0	6803	246	9	5	1715	5	GRM8	7	126542667	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2948461	126542667	32595996	2021	18477										
METTL2B	55798	hgsc.bcm.edu	37	chr7	128140982	128140982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctatctggaaatttctaTgtgagaggtgatggaaccag	12	5	3	2	rs10257897	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:128140982T>C	ENST00000262432.8	+	8	979	c.942T>C	c.(940-942)taT>taC	p.Y314Y	METTL2B_ENST00000480046.1_Silent_p.Y249Y	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	314					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAAATTTCTATGTGAGAGGTG	0.398													C|||	1794	0.358227	0.4145	0.3055	5008	,	,		20144	0.2877		0.3827	False		,,,				2504	0.3671				p.Y314Y		Atlas-SNP	.											.	METTL2B	34	.	0			c.T942C						PASS	.	C		1772,2634	643.2+/-397.8	347,1078,778	216	214	215		942	2.1	1	7	dbSNP_119	215	3414,5184	638.8+/-399.4	679,2056,1564	no	coding-synonymous	METTL2B	NM_018396.2		1026,3134,2342	CC,CT,TT		39.7069,40.2179,39.88		314/379	128140982	5186,7818	2203	4299	6502	SO:0001819	synonymous_variant	55798	exon8			TTTCTATGTGAGA	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.942T>C	7.37:g.128140982T>C		Somatic	276	0	0		WXS	Illumina HiSeq	Phase_I	177	137	0.774011	NM_018396	B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	ENST00000262432.8	37	CCDS5803.2																																																																																			.	.	weak		0.398	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		C	128140982	T	C	128140982	2	2	23	1	0	0	0	0	0	0	0	1	9500	1471	51	2		2	METTL2B	7	128140982	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1598315	128140982	30997681	2022	18478										
FAM71F2	346653	hgsc.bcm.edu	37	chr7	128312463	128312463	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagaaccaatgagtaaaatCaggggcctcccacctgaggt	10	11	1	3	rs74343948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:128312463C>G	ENST00000480462.1	+	1	118	c.12C>G	c.(10-12)atC>atG	p.I4M	FAM71F2_ENST00000378704.3_Missense_Mutation_p.I4M|FAM71F2_ENST00000477515.1_Missense_Mutation_p.I4M|FAM71F2_ENST00000460349.1_3'UTR			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	4										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						TGAGTAAAATCAGGGGCCTCC	0.522													.|||	562	0.11222	0.034	0.1066	5008	,	,		16667	0.1657		0.1322	False		,,,				2504	0.1462				p.I4M		Atlas-SNP	.											.	FAM71F2	19	.	0			c.C12G						PASS	.	C	MET/ILE,MET/ILE	214,3556		11,192,1682	33	34	33		12,12	1.1	1	7	dbSNP_132	33	1243,6983		116,1011,2986	yes	missense,missense	FAM71F2	NM_001012454.3,NM_001128926.1	10,10	127,1203,4668	GG,GC,CC		15.1106,5.6764,12.1457	benign,benign	4/310,4/301	128312463	1457,10539	1885	4113	5998	SO:0001583	missense	346653	exon1			TAAAATCAGGGGC	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.12C>G	7.37:g.128312463C>G	ENSP00000420140:p.Ile4Met	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	54	10	0.185185	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	241	0.11034798534798534	26	0.052845528455284556	37	0.10220994475138122	90	0.15734265734265734	88	0.11609498680738786	C	16.28	3.080033	0.55753	0.056764	0.151106	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.37411	3.01;3.01;3.01;3.01;1.2	4.86	1.13	0.20643	.	0.270429	0.26248	N	0.025467	T	0.00210	0.0006	L	0.57536	1.79	0.40727	P	0.017286000000000024	D;P	0.55385	0.971;0.952	P;P	0.57620	0.824;0.671	T	0.04440	-1.0951	9	0.33940	T	0.23	0.4287	7.1167	0.25421	0.0:0.2398:0.0:0.7602	.	4;4	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	M	4	ENSP00000418907:I4M;ENSP00000420140:I4M;ENSP00000367976:I4M;ENSP00000401654:I4M;ENSP00000419649:I4M	ENSP00000367976:I4M	I	+	3	3	FAM71F2	128099699	0.998000	0.40836	0.974000	0.42286	0.897000	0.52465	0.156000	0.16382	0.092000	0.17331	-0.140000	0.14226	ATC	C|0.884;G|0.116	0.116	strong		0.522	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			G	128312463	C	G	128312463	3	3	23	1	0	0	0	0	1	0	0	0	5613	816	29	4	14	4	FAM71F2	7	128312463	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	171481	128312463	30826200	2023	18479										
FAM71F2	346653	hgsc.bcm.edu	37	chr7	128315889	128315889	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctggagcacacctggtgAcgccccagtcatcaacctca	8	17	3	1	rs6971819	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:128315889A>T	ENST00000480462.1	+	2	447	c.341A>T	c.(340-342)gAc>gTc	p.D114V	FAM71F2_ENST00000378704.3_Missense_Mutation_p.D105V|FAM71F2_ENST00000477515.1_Missense_Mutation_p.D114V|FAM71F2_ENST00000460349.1_3'UTR			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	114			D -> V (in dbSNP:rs6971819). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334}.							NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ACACCTGGTGACGCCCCAGTC	0.562													.|||	567	0.113219	0.2186	0.0677	5008	,	,		15377	0.0278		0.1203	False		,,,				2504	0.0838				p.D114V		Atlas-SNP	.											.	FAM71F2	19	.	0			c.A341T						PASS	.	A	VAL/ASP,VAL/ASP	755,3051		85,585,1233	43	41	41		341,314	0.5	0	7	dbSNP_116	41	957,7289		62,833,3228	yes	missense,missense	FAM71F2	NM_001012454.3,NM_001128926.1	152,152	147,1418,4461	TT,TA,AA		11.6056,19.8371,14.2051	benign,benign	114/310,105/301	128315889	1712,10340	1903	4123	6026	SO:0001583	missense	346653	exon2			CTGGTGACGCCCC	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.341A>T	7.37:g.128315889A>T	ENSP00000420140:p.Asp114Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	235	0.10760073260073261	90	0.18292682926829268	28	0.07734806629834254	18	0.03146853146853147	99	0.13060686015831136	A	2.983	-0.209937	0.06140	0.198371	0.116056	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.30714	2.2;2.2;2.2;2.2;1.52	4.16	0.475	0.16774	.	2.399370	0.01787	N	0.032075	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25152	-1.0140	9	0.33940	T	0.23	-6.2876	0.5566	0.00672	0.2287:0.3575:0.2032:0.2107	rs6971819;rs6971819	105;114	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	V	105;114;105;105;114	ENSP00000418907:D105V;ENSP00000420140:D114V;ENSP00000367976:D105V;ENSP00000401654:D105V;ENSP00000419649:D114V	ENSP00000367976:D105V	D	+	2	0	FAM71F2	128103125	0.005000	0.15991	0.025000	0.17156	0.320000	0.28249	-0.094000	0.11094	-0.021000	0.14009	0.455000	0.32223	GAC	A|0.892;T|0.108	0.108	strong		0.562	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			T	128315889	A	T	128315889	3	4	23	1	0	0	0	0	1	0	0	0	5613	275	10	5	347	5	FAM71F2	7	128315889	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3426	128315889	30822774	2024	18480										
CALU	813	hgsc.bcm.edu	37	chr7	128388648	128388648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctaattatcatggacctgcGacagtttcttatgtgcctgt	8	9	3	0	rs2290228	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:128388648G>A	ENST00000249364.4	+	2	113	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	CALU_ENST00000535011.2_Missense_Mutation_p.R4Q|CALU_ENST00000479257.1_Missense_Mutation_p.R12Q|CALU_ENST00000535623.1_Missense_Mutation_p.R12Q|CALU_ENST00000542996.2_Missense_Mutation_p.R12Q|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.R4Q	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	4			R -> Q (in dbSNP:rs2290228). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						ATGGACCTGCGACAGTTTCTT	0.418													G|||	855	0.170727	0.0961	0.1859	5008	,	,		19745	0.1974		0.159	False		,,,				2504	0.2454				p.R12Q		Atlas-SNP	.											.	CALU	42	.	0			c.G35A						PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,GLN/ARG	485,3921	225.9+/-241.6	29,427,1747	84	81	82		11,35,35,11,,11	5.9	1	7	dbSNP_100	82	1415,7185	273.1+/-290.5	115,1185,3000	yes	missense,missense,missense,missense,intron,missense	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199673.1,NM_001199674.1,NM_001219.4	43,43,43,43,,43	144,1612,4747	AA,AG,GG		16.4535,11.0077,14.6086	benign,benign,benign,benign,,benign	4/316,12/324,12/324,4/225,,4/316	128388648	1900,11106	2203	4300	6503	SO:0001583	missense	813	exon3			ACCTGCGACAGTT	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.11G>A	7.37:g.128388648G>A	ENSP00000249364:p.Arg4Gln	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	100	17	0.17	NM_001199671	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	345	0.15796703296703296	46	0.09349593495934959	60	0.16574585635359115	116	0.20279720279720279	123	0.16226912928759896	G	17.69	3.452475	0.63290	0.110077	0.164535	ENSG00000128595	ENST00000542996;ENST00000535623;ENST00000538394;ENST00000537667;ENST00000535011;ENST00000537014;ENST00000249364;ENST00000449187;ENST00000342367;ENST00000479257	T;T;T;T;T;T	0.61510	2.71;0.1;2.5;2.74;2.74;2.71	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.00109	0.0003	M	0.68593	2.085	0.09310	P	1.0	B;B	0.20368	0.044;0.003	B;B	0.09377	0.004;0.001	T	0.06899	-1.0801	9	0.18710	T	0.47	-2.4555	17.8434	0.88721	0.0:0.0:1.0:0.0	rs2290228;rs10399443;rs11545532;rs61408000;rs2290228	12;4	D6QS48;O43852	.;CALU_HUMAN	Q	12;12;4;4;4;4;4;4;4;12	ENSP00000438248:R12Q;ENSP00000439139:R12Q;ENSP00000442110:R4Q;ENSP00000249364:R4Q;ENSP00000408838:R4Q;ENSP00000420381:R12Q	ENSP00000249364:R4Q	R	+	2	0	CALU	128175884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.343000	0.52167	2.814000	0.96858	0.591000	0.81541	CGA	G|0.841;A|0.159	0.159	strong		0.418	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		A	128388648	G	A	128388648	3	1	23	1	0	0	0	0	1	0	0	0	2594	1058	37	1	13	1	CALU	7	128388648	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	72759	128388648	30750015	2025	18481										
CPA1	1357	hgsc.bcm.edu	37	chr7	130023539	130023539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccagatcactcaagactaCgggcaggatgcagctttcac	9	14	3	2	rs12706927	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:130023539C>T	ENST00000011292.3	+	6	750	c.600C>T	c.(598-600)taC>taT	p.Y200Y	CPA1_ENST00000484324.1_Silent_p.Y112Y	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	200					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CTCAAGACTACGGGCAGGATG	0.587													C|||	384	0.0766773	0.0953	0.0562	5008	,	,		18446	0.006		0.1133	False		,,,				2504	0.1012				p.Y200Y		Atlas-SNP	.											.	CPA1	73	.	0			c.C600T						PASS	.	C		437,3969	212.2+/-232.1	19,399,1785	151	129	137		600	0.6	1	7	dbSNP_121	137	1026,7574	219.2+/-257.4	64,898,3338	no	coding-synonymous	CPA1	NM_001868.2		83,1297,5123	TT,TC,CC		11.9302,9.9183,11.2487		200/420	130023539	1463,11543	2203	4300	6503	SO:0001819	synonymous_variant	1357	exon6			AGACTACGGGCAG		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.600C>T	7.37:g.130023539C>T		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	104	26	0.25	NM_001868	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																			C|0.903;T|0.097	0.097	strong		0.587	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		T	130023539	C	T	130023539	2	4	23	1	0	0	0	0	0	0	0	1	3789	547	19	1		1	CPA1	7	130023539	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1634891	130023539	29115124	2026	18482										
TSGA14	95681	hgsc.bcm.edu	37	chr7	130051013	130051013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttccagtgtttgatcagagAgggaagcaacttggatgatc	12	7	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:130051013A>G	ENST00000223208.5	-	5	497	c.227T>C	c.(226-228)cTc>cCc	p.L76P	CEP41_ENST00000343969.5_Missense_Mutation_p.L76P|CEP41_ENST00000541543.1_Missense_Mutation_p.L60P	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	76					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TTGATCAGAGAGGGAAGCAAC	0.403																																					p.L76P		Atlas-SNP	.											TSGA14,NS,carcinoma,+1,1	.	.	1	0			c.T227C						PASS	.						167	153	157					7																	130051013		2203	4300	6503	SO:0001583	missense	95681	exon5			TCAGAGAGGGAAG	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.227T>C	7.37:g.130051013A>G	ENSP00000223208:p.Leu76Pro	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	71	54	0.760563	NM_018718	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350277	0.82132	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282;ENST00000469826	D;D;D;D;D;D;D;D	0.90620	-2.7;-2.33;-2.66;-2.35;-2.34;-2.36;-1.84;-1.5	5.93	5.93	0.95920	Rhodanese-like (1);	0.242522	0.36409	N	0.002614	D	0.94371	0.8190	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.71656	0.974;0.916;0.909	D	0.94745	0.7922	10	0.72032	D	0.01	-10.3632	15.1976	0.73104	1.0:0.0:0.0:0.0	.	60;76;76	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	P	76;60;76;41;41;73;41;63	ENSP00000223208:L76P;ENSP00000445888:L60P;ENSP00000342738:L76P;ENSP00000419192:L41P;ENSP00000417593:L41P;ENSP00000420670:L73P;ENSP00000418363:L41P;ENSP00000418712:L63P	ENSP00000223208:L76P	L	-	2	0	TSGA14	129838249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.635000	0.67841	2.273000	0.75805	0.482000	0.46254	CTC	.	.	none		0.403	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		G	130051013	A	G	130051013	3	3	23	1	0	0	0	0	1	0	0	0	16617	304	11	3	922	3	TSGA14	7	130051013	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	27474	130051013	29087650	2027	18483										
TSGA13	114960	hgsc.bcm.edu	37	chr7	130368440	130368440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacactccttacctctttgcTattgacaaccattcctttct	2	14	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:130368440T>C	ENST00000456951.1	-	4	945	c.94A>G	c.(94-96)Agc>Ggc	p.S32G	TSGA13_ENST00000356588.3_Missense_Mutation_p.S32G			Q96PP4	TSG13_HUMAN	testis specific, 13	32										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					ACCTCTTTGCTATTGACAACC	0.373																																					p.S32G		Atlas-SNP	.											TSGA13,NS,carcinoma,+1,1	TSGA13	35	1	0			c.A94G						scavenged	.						209	182	191					7																	130368440		2203	4299	6502	SO:0001583	missense	114960	exon3			CTTTGCTATTGAC	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.94A>G	7.37:g.130368440T>C	ENSP00000406047:p.Ser32Gly	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	135	2	0.0148148	NM_052933	B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	0.905	-0.721010	0.03182	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	4.52	-5.68	0.02436	.	2.548760	0.01875	N	0.037519	T	0.21962	0.0529	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	9	0.10902	T	0.67	5.9062	9.2842	0.37746	0.0:0.617:0.1208:0.2622	.	32	Q96PP4	TSG13_HUMAN	G	32	.	ENSP00000348996:S32G	S	-	1	0	TSGA13	130018980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.619000	0.05572	-1.148000	0.02847	-1.122000	0.02009	AGC	.	.	none		0.373	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		C	130368440	T	C	130368440	3	2	23	1	0	0	0	0	1	0	0	0	16616	1522	53	3	757	3	TSGA13	7	130368440	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	317427	130368440	28770223	2028	18484										
EXOC4	60412	hgsc.bcm.edu	37	chr7	133689801	133689801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgccattgaagaggccatgAgcgccagccttcagcagcac	12	14	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:133689801A>G	ENST00000253861.4	+	16	2514	c.2485A>G	c.(2485-2487)Agc>Ggc	p.S829G	EXOC4_ENST00000541309.1_Missense_Mutation_p.S117G|EXOC4_ENST00000539845.1_Missense_Mutation_p.S728G|EXOC4_ENST00000545148.1_Missense_Mutation_p.S439G	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	829					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAGGCCATGAGCGCCAGCCT	0.493																																					p.S829G		Atlas-SNP	.											EXOC4_ENST00000545148,NS,carcinoma,0,2	EXOC4	118	2	0			c.A2485G						PASS	.						131	125	127					7																	133689801		2203	4300	6503	SO:0001583	missense	60412	exon16			GCCATGAGCGCCA	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2485A>G	7.37:g.133689801A>G	ENSP00000253861:p.Ser829Gly	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	61	9	0.147541	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714902	0.48622	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.44	4.28	0.50868	.	0.052853	0.85682	D	0.000000	T	0.53867	0.1823	L	0.46819	1.47	0.45239	D	0.998246	B;B;B	0.17038	0.001;0.02;0.001	B;B;B	0.25759	0.003;0.063;0.001	T	0.50363	-0.8837	9	0.48119	T	0.1	.	8.4959	0.33127	0.8499:0.0:0.1501:0.0	.	361;439;829	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	G	829;448;728;439;117	.	ENSP00000253861:S829G	S	+	1	0	EXOC4	133340341	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	4.678000	0.61641	0.903000	0.36546	0.402000	0.26972	AGC	.	.	none		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		G	133689801	A	G	133689801	3	3	23	1	0	0	0	0	1	0	0	0	5306	304	11	3	2556	3	EXOC4	7	133689801	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3321361	133689801	25448862	2029	18485										
EXOC4	60412	hgsc.bcm.edu	37	chr7	133749164	133749164	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accctgctgcaccgcagccaGactggggtgggggaactgac	15	13	0	2	rs6953296	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:133749164G>A	ENST00000253861.4	+	18	2837	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	EXOC4_ENST00000541309.1_Silent_p.Q224Q|EXOC4_ENST00000539845.1_Silent_p.Q835Q|EXOC4_ENST00000545148.1_Silent_p.Q546Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	936					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACCGCAGCCAGACTGGGGTGG	0.592													G|||	3351	0.669129	0.7065	0.7622	5008	,	,		19248	0.7609		0.6014	False		,,,				2504	0.5276				p.Q936Q		Atlas-SNP	.											.	EXOC4	118	.	0			c.G2808A						PASS	.	G		3055,1351	692.2+/-405.5	1064,927,212	59	54	56		2808	4.7	1	7	dbSNP_116	56	5128,3472	635.6+/-399.0	1548,2032,720	no	coding-synonymous	EXOC4	NM_021807.3		2612,2959,932	AA,AG,GG		40.3721,30.6627,37.0829		936/975	133749164	8183,4823	2203	4300	6503	SO:0001819	synonymous_variant	60412	exon18			CAGCCAGACTGGG	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2808G>A	7.37:g.133749164G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	59	16	0.271186	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																			G|0.353;A|0.647	0.647	strong		0.592	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		A	133749164	G	A	133749164	2	1	23	1	0	0	0	0	0	0	0	1	5306	933	33	2		2	EXOC4	7	133749164	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	59363	133749164	25389499	2030	18486										
AKR1B15	441282	hgsc.bcm.edu	37	chr7	134261174	134261174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcaaagcacaaaaaaaccAcagcccaggtaccatatttt	5	12	0	0	rs2458502	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:134261174A>G	ENST00000457545.2	+	9	1077	c.817A>G	c.(817-819)Aca>Gca	p.T273A	AKR1B15_ENST00000423958.1_Missense_Mutation_p.T245A	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	273							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CAAAAAAACCACAGCCCAGGT	0.448													A|||	5	0.000998403	0.0	0.0029	5008	,	,		21387	0.0		0.003	False		,,,				2504	0.0				p.T273A		Atlas-SNP	.											.	AKR1B15	105	.	0			c.A817G						PASS	.	A	ALA/THR	7,4399	12.9+/-30.5	0,7,2196	64	71	68		817	-6.9	0	7	dbSNP_100	68	48,8552	31.2+/-83.2	0,48,4252	no	missense	AKR1B15	NM_001080538.2	58	0,55,6448	GG,GA,AA		0.5581,0.1589,0.4229	benign	273/345	134261174	55,12951	2203	4300	6503	SO:0001583	missense	441282	exon9			AAAACCACAGCCC		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.817A>G	7.37:g.134261174A>G	ENSP00000389289:p.Thr273Ala	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	77	17	0.220779	NM_001080538	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	a	0.028	-1.354403	0.01256	0.001589	0.005581	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.16324	2.35;2.35	3.46	-6.91	0.01649	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.03178	0.0093	N	0.03071	-0.42	0.09310	N	0.999998	B;B	0.10296	0.0;0.003	B;B	0.12156	0.001;0.007	T	0.33904	-0.9850	9	0.33141	T	0.24	.	2.4069	0.04414	0.2716:0.2406:0.3777:0.1102	rs2458502	245;273	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	A	273;245	ENSP00000389289:T273A;ENSP00000397009:T245A	ENSP00000397009:T245A	T	+	1	0	AKR1B15	133911714	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	-5.815000	0.00096	-2.183000	0.00763	-1.140000	0.01884	ACA	A|0.998;G|0.002	0.002	strong		0.448	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			G	134261174	A	G	134261174	3	3	23	1	0	0	0	0	1	0	0	0	468	159	6	2	843	2	AKR1B15	7	134261174	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	512010	134261174	24877489	2031	18487										
CNOT4	4850	hgsc.bcm.edu	37	chr7	135082953	135082953	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaccgttccctatactgaGagaatctgaaggtttgtcaa	8	9	3	3	rs77841106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:135082953G>C	ENST00000315544.5	-	8	1126	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V	CNOT4_ENST00000541284.1_Missense_Mutation_p.L283V|CNOT4_ENST00000428680.2_Missense_Mutation_p.L280V|CNOT4_ENST00000361528.4_Missense_Mutation_p.L280V|CNOT4_ENST00000451834.1_Missense_Mutation_p.L280V|CNOT4_ENST00000414802.1_Missense_Mutation_p.L283V|CNOT4_ENST00000423368.2_Missense_Mutation_p.L283V|CNOT4_ENST00000356162.4_Missense_Mutation_p.L283V	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	283					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCTATACTGAGAGAATCTGAA	0.348													G|||	216	0.043131	0.0318	0.0346	5008	,	,		17001	0.001		0.1054	False		,,,				2504	0.044				p.L283V	Ovarian(51;766 1130 5502 35047 50875)	Atlas-SNP	.											.	CNOT4	146	.	0			c.C847G						PASS	.	G	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	148,3458		3,142,1658	95	88	90		838,847,847,838,847,838	5.2	1	7	dbSNP_131	90	814,7332		37,740,3296	yes	missense,missense,missense,missense,missense,missense	CNOT4	NM_001008225.2,NM_001190847.1,NM_001190848.1,NM_001190849.1,NM_001190850.1,NM_013316.3	32,32,32,32,32,32	40,882,4954	CC,CG,GG		9.9926,4.1043,8.1858	benign,benign,benign,benign,benign,benign	280/573,283/643,283/576,280/711,283/714,280/640	135082953	962,10790	1803	4073	5876	SO:0001583	missense	4850	exon8			TACTGAGAGAATC	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.847C>G	7.37:g.135082953G>C	ENSP00000326731:p.Leu283Val	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	56	45	0.803571	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	121	0.0554029304029304	21	0.042682926829268296	19	0.052486187845303865	0	0.0	81	0.10686015831134564	G	11.93	1.786225	0.31593	0.041043	0.099926	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.22	5.22	0.72569	.	0.112601	0.64402	D	0.000019	T	0.00845	0.0028	N	0.24115	0.695	0.22581	P	0.99896632	B;B;B;B;B;B	0.27932	0.062;0.102;0.012;0.02;0.076;0.194	B;B;B;B;B;B	0.24848	0.015;0.033;0.004;0.009;0.056;0.056	T	0.11251	-1.0595	9	0.18276	T	0.48	-13.0679	11.2538	0.49041	0.0851:0.0:0.9149:0.0	.	280;283;283;280;283;280	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	V	283;280;283;283;280;283;283;280;283	ENSP00000445508:L283V;ENSP00000388491:L280V;ENSP00000406777:L283V;ENSP00000354673:L280V;ENSP00000416532:L283V;ENSP00000348485:L283V;ENSP00000399108:L280V;ENSP00000326731:L283V	ENSP00000262563:L283V	L	-	1	0	CNOT4	134733493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.578000	0.67450	2.588000	0.87417	0.650000	0.86243	CTC	G|0.933;C|0.067	0.067	strong		0.348	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135082953	G	C	135082953	3	2	23	1	0	0	0	0	1	0	0	0	3621	942	33	4	1202	4	CNOT4	7	135082953	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	821779	135082953	24055710	2032	18488										
CNOT4	4850	hgsc.bcm.edu	37	chr7	135098310	135098310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatgcagtcaggttttggaCactgcatattctttaagaag	9	7	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:135098310C>T	ENST00000315544.5	-	6	893	c.614G>A	c.(613-615)tGt>tAt	p.C205Y	CNOT4_ENST00000541284.1_Missense_Mutation_p.C205Y|CNOT4_ENST00000428680.2_Missense_Mutation_p.C205Y|CNOT4_ENST00000361528.4_Missense_Mutation_p.C205Y|CNOT4_ENST00000451834.1_Missense_Mutation_p.C205Y|CNOT4_ENST00000414802.1_Missense_Mutation_p.C205Y|CNOT4_ENST00000423368.2_Missense_Mutation_p.C205Y|CNOT4_ENST00000356162.4_Missense_Mutation_p.C205Y	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	205					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGGTTTTGGACACTGCATATT	0.418																																					p.C205Y	Ovarian(51;766 1130 5502 35047 50875)	Atlas-SNP	.											.	CNOT4	146	.	0			c.G614A						PASS	.						130	118	122					7																	135098310		1876	4110	5986	SO:0001583	missense	4850	exon6			TTTGGACACTGCA	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.614G>A	7.37:g.135098310C>T	ENSP00000326731:p.Cys205Tyr	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	133	72	0.541353	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043251	0.75732	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	D;D;T;D;T;T;D;D	0.82619	-1.52;-1.57;-1.44;-1.51;-1.38;-1.38;-1.63;-1.56	5.95	5.07	0.68467	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	M	0.91612	3.225	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;0.16;0.997	D;D;D;D;B;D	0.97110	0.999;1.0;0.999;1.0;0.051;0.991	D	0.94292	0.7529	10	0.87932	D	0	-12.3216	15.3196	0.74112	0.0:0.9329:0.0:0.0671	.	205;205;205;205;205;205	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	Y	205	ENSP00000445508:C205Y;ENSP00000388491:C205Y;ENSP00000406777:C205Y;ENSP00000354673:C205Y;ENSP00000416532:C205Y;ENSP00000348485:C205Y;ENSP00000399108:C205Y;ENSP00000326731:C205Y	ENSP00000262563:C205Y	C	-	2	0	CNOT4	134748850	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.506000	0.81665	1.527000	0.49086	0.563000	0.77884	TGT	.	.	none		0.418	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		T	135098310	C	T	135098310	3	4	23	1	0	0	0	0	1	0	0	0	3621	478	17	2	1434	2	CNOT4	7	135098310	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15357	135098310	24040353	2033	18489										
NUP205	23165	hgsc.bcm.edu	37	chr7	135329690	135329690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgataaaatctccactgcTcagaaatatgttctagcaag	7	8	3	2	rs12540688	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:135329690T>C	ENST00000285968.6	+	40	5633	c.5607T>C	c.(5605-5607)gcT>gcC	p.A1869A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1869					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.A1869A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCCACTGCTCAGAAATATG	0.388											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1258	0.251198	0.2428	0.196	5008	,	,		18544	0.253		0.1968	False		,,,				2504	0.3558				p.A1869A		Atlas-SNP	.											NUP205,NS,carcinoma,0,1	NUP205	198	1	1	Substitution - coding silent(1)	stomach(1)	c.T5607C						PASS	.	C		1068,3338		139,790,1274	159	144	149		5607	1.2	0.5	7	dbSNP_120	149	1612,6988		153,1306,2841	no	coding-synonymous	NUP205	NM_015135.2		292,2096,4115	CC,CT,TT		18.7442,24.2397,20.6059		1869/2013	135329690	2680,10326	2203	4300	6503	SO:0001819	synonymous_variant	23165	exon40			CACTGCTCAGAAA	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5607T>C	7.37:g.135329690T>C		Somatic	174	0	0	1617	WXS	Illumina HiSeq	Phase_I	127	91	0.716535	NM_015135	A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																			T|0.778;C|0.222	0.222	strong		0.388	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			C	135329690	T	C	135329690	2	2	23	1	0	0	0	0	0	0	0	1	10759	1538	54	3		3	NUP205	7	135329690	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	231380	135329690	23808973	2034	18490										
SLC13A4	26266	hgsc.bcm.edu	37	chr7	135376041	135376041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccttccacgtgatgatggGctcggtccccagtgagtgct	13	12	0	3	rs36004833	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:135376041G>A	ENST00000354042.4	-	13	2040	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	451			P -> S (in dbSNP:rs36004833).		sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTGATGATGGGCTCGGTCCCC	0.517													G|||	62	0.0123802	0.0023	0.0187	5008	,	,		15980	0.0		0.0437	False		,,,				2504	0.002				p.P451S		Atlas-SNP	.											.	SLC13A4	56	.	0			c.C1351T						PASS	.	G	SER/PRO	32,4374	36.8+/-68.6	0,32,2171	110	102	105		1351	3.8	1	7	dbSNP_126	105	319,8281	113.7+/-173.7	10,299,3991	yes	missense	SLC13A4	NM_012450.2	74	10,331,6162	AA,AG,GG		3.7093,0.7263,2.6988	benign	451/627	135376041	351,12655	2203	4300	6503	SO:0001583	missense	26266	exon13			TGATGGGCTCGGT	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1351C>T	7.37:g.135376041G>A	ENSP00000297282:p.Pro451Ser	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	86	27	0.313953	NM_012450	A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	CCDS5840.1	38	0.0173992673992674	0	0.0	9	0.024861878453038673	0	0.0	29	0.03825857519788918	G	15.31	2.795824	0.50208	0.007263	0.037093	ENSG00000164707	ENST00000354042	T	0.69685	-0.42	5.64	3.84	0.44239	.	0.154187	0.64402	N	0.000014	T	0.22859	0.0552	L	0.37800	1.135	0.51482	D	0.999929	B;B	0.29378	0.243;0.1	B;B	0.28849	0.067;0.095	T	0.28235	-1.0050	10	0.44086	T	0.13	-19.6445	10.3058	0.43680	0.1606:0.0:0.8394:0.0	rs36004833	320;451	Q59HF0;Q9UKG4	.;S13A4_HUMAN	S	451	ENSP00000297282:P451S	ENSP00000297282:P451S	P	-	1	0	SLC13A4	135026581	1.000000	0.71417	0.990000	0.47175	0.592000	0.36648	4.874000	0.63064	0.738000	0.32606	0.650000	0.86243	CCC	G|0.976;A|0.024	0.024	strong		0.517	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		A	135376041	G	A	135376041	3	1	23	1	0	0	0	0	1	0	0	0	14394	1203	42	2	545	2	SLC13A4	7	135376041	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46351	135376041	23762622	2035	18491										
KIAA1549	57670	hgsc.bcm.edu	37	chr7	138602417	138602417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagggggacaagtcactcGgcatcagagacagagacgca	14	9	2	3	rs2774960	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138602417G>A	ENST00000422774.1	-	2	2003	c.1955C>T	c.(1954-1956)cCg>cTg	p.P652L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P652L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P602L			Q9HCM3	K1549_HUMAN	KIAA1549	652	Ser-rich.		P -> L (in dbSNP:rs2774960). {ECO:0000269|PubMed:10997877}.			integral component of membrane (GO:0016021)		p.P652L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAGTCACTCGGCATCAGAGA	0.498			O	BRAF	pilocytic astrocytoma								G|||	1962	0.391773	0.7247	0.2478	5008	,	,		20592	0.2014		0.3439	False		,,,				2504	0.2894				p.P652L	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	KIAA1549_ENST00000422774,NS,carcinoma,+1,3	KIAA1549	314	3	1	Substitution - Missense(1)	stomach(1)	c.C1955T						PASS	.	G	LEU/PRO,LEU/PRO	2503,1449		780,943,253	34	37	36		1955,1955	3.3	0	7	dbSNP_100	36	2624,5702		435,1754,1974	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	98,98	1215,2697,2227	AA,AG,GG		31.5157,36.665,41.7576	possibly-damaging,possibly-damaging	652/1951,652/1935	138602417	5127,7151	1976	4163	6139	SO:0001583	missense	57670	exon2			TCACTCGGCATCA		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1955C>T	7.37:g.138602417G>A	ENSP00000416040:p.Pro652Leu	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	30	30	1	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	815	0.3731684981684982	348	0.7073170731707317	91	0.2513812154696133	124	0.21678321678321677	252	0.3324538258575198	G	11.46	1.645564	0.29246	0.63335	0.315157	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22336	1.96;1.96;1.96	4.25	3.34	0.38264	.	1.094530	0.07241	N	0.864311	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P;P	0.46327	0.804;0.876	B;B	0.31495	0.062;0.131	T	0.27536	-1.0071	9	0.25106	T	0.35	.	6.9775	0.24683	0.0:0.1788:0.6051:0.2161	rs2774960;rs3735011;rs10362163;rs58911850;rs2774960	652;652	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	652;602;652	ENSP00000406661:P652L;ENSP00000242365:P602L;ENSP00000416040:P652L	ENSP00000242365:P602L	P	-	2	0	KIAA1549	138252957	0.022000	0.18835	0.001000	0.08648	0.045000	0.14185	1.919000	0.40015	0.975000	0.38392	0.591000	0.81541	CCG	G|0.595;A|0.405	0.405	strong		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			A	138602417	G	A	138602417	3	1	23	1	0	0	0	0	1	0	0	0	8244	1116	39	1	3973	1	KIAA1549	7	138602417	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3226376	138602417	20536246	2036	18492										
KIAA1549	57670	hgsc.bcm.edu	37	chr7	138602523	138602523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcaaaatccaaagcacctcTgggtttatgctcagaaaaac	7	10	2	1	rs2774962	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138602523T>C	ENST00000422774.1	-	2	1897	c.1849A>G	c.(1849-1851)Aga>Gga	p.R617G	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R617G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R567G			Q9HCM3	K1549_HUMAN	KIAA1549	617	Ser-rich.			R -> G (in Ref. 3; BAB13375). {ECO:0000305}.		integral component of membrane (GO:0016021)		p.R617G(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCACCTCTGGGTTTATGC	0.498			O	BRAF	pilocytic astrocytoma								C|||	2502	0.499601	0.944	0.2867	5008	,	,		20995	0.2024		0.4175	False		,,,				2504	0.4407				p.R617G	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	KIAA1549_ENST00000422774,colon,carcinoma,0,3	KIAA1549	314	3	1	Substitution - Missense(1)	stomach(1)	c.A1849G						scavenged	.	C	GLY/ARG,GLY/ARG	3201,563		1361,479,42	38	43	41		1849,1849	0.9	0	7	dbSNP_100	41	3231,4987		665,1901,1543	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	125,125	2026,2380,1585	CC,CT,TT		39.3161,14.9575,46.3195	benign,benign	617/1951,617/1935	138602523	6432,5550	1882	4109	5991	SO:0001583	missense	57670	exon2			CACCTCTGGGTTT		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1849A>G	7.37:g.138602523T>C	ENSP00000416040:p.Arg617Gly	Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	46	44	0.956522	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	994	0.4551282051282051	458	0.9308943089430894	107	0.2955801104972376	124	0.21678321678321677	305	0.4023746701846966	C	2.367	-0.345193	0.05208	0.850425	0.393161	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.93;1.93;1.93	3.97	0.882	0.19172	.	1.384970	0.04733	N	0.421435	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	9	0.21540	T	0.41	.	3.4217	0.07396	0.2007:0.3444:0.0:0.4549	rs2774962;rs3735010;rs10376674;rs17605959;rs52812915;rs56602304;rs58455329;rs2774962	617;617	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	G	617;567;617	ENSP00000406661:R617G;ENSP00000242365:R567G;ENSP00000416040:R617G	ENSP00000242365:R567G	R	-	1	2	KIAA1549	138253063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.204000	0.09425	0.061000	0.16311	-0.186000	0.12905	AGA	T|0.509;C|0.491	0.491	strong		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138602523	T	C	138602523	3	2	23	1	0	0	0	0	1	0	0	0	8244	1588	55	3	4079	3	KIAA1549	7	138602523	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	106	138602523	20536140	2037	18493										
KIAA1549	57670	hgsc.bcm.edu	37	chr7	138602916	138602916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggacgataggtctggaggGgaaaagcgtattaaatactt	14	4	1	0	rs2718131	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138602916G>C	ENST00000422774.1	-	2	1504	c.1456C>G	c.(1456-1458)Ccc>Gcc	p.P486A	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P486A|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P436A			Q9HCM3	K1549_HUMAN	KIAA1549	486				P -> A (in Ref. 3; BAB13375). {ECO:0000305}.		integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTCTGGAGGGGAAAAGCGTA	0.458			O	BRAF	pilocytic astrocytoma								G|||	1054	0.210463	0.388	0.1556	5008	,	,		23406	0.0655		0.2555	False		,,,				2504	0.1125				p.P486A	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549	314	.	0			c.C1456G						PASS	.	G	ALA/PRO,ALA/PRO	1418,2492		265,888,802	33	34	34		1456,1456	4.6	1	7	dbSNP_100	34	1910,6392		219,1472,2460	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	27,27	484,2360,3262	CC,CG,GG		23.0065,36.266,27.2519	probably-damaging,probably-damaging	486/1951,486/1935	138602916	3328,8884	1955	4151	6106	SO:0001583	missense	57670	exon2			TGGAGGGGAAAAG		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1456C>G	7.37:g.138602916G>C	ENSP00000416040:p.Pro486Ala	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	33	32	0.969697	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	488	0.22344322344322345	199	0.40447154471544716	56	0.15469613259668508	45	0.07867132867132867	188	0.24802110817941952	G	14.07	2.424820	0.43020	0.36266	0.230065	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.60672	0.17;0.21;0.18	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000054	T	0.00012	0.0000	L	0.34521	1.04	0.22940	P	0.99853962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.36407	-0.9749	9	0.38643	T	0.18	.	14.7063	0.69194	0.0:0.0:1.0:0.0	rs2718131;rs10362786;rs2718131	486;486	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	A	486;436;486	ENSP00000406661:P486A;ENSP00000242365:P436A;ENSP00000416040:P486A	ENSP00000242365:P436A	P	-	1	0	KIAA1549	138253456	1.000000	0.71417	0.981000	0.43875	0.021000	0.10359	4.557000	0.60782	2.388000	0.81334	0.655000	0.94253	CCC	G|0.756;C|0.244	0.244	strong		0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138602916	G	C	138602916	3	2	23	1	0	0	0	0	1	0	0	0	8244	1232	43	4	4472	4	KIAA1549	7	138602916	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	393	138602916	20535747	2038	18494										
ZC3HAV1	56829	hgsc.bcm.edu	37	chr7	138732457	138732457	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtatccacacagctgtcGaactgtggaggagggctcgt	14	10	0	0	rs3735008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138732457G>A	ENST00000242351.5	-	13	2908	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	ZC3HAV1_ENST00000464606.1_Silent_p.F986F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	864	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.F864L(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CACAGCTGTCGAACTGTGGAG	0.428													G|||	2122	0.423722	0.475	0.3501	5008	,	,		17669	0.3343		0.493	False		,,,				2504	0.4274				p.F864F		Atlas-SNP	.											ZC3HAV1,colon,carcinoma,0,1	ZC3HAV1	75	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2592T						scavenged	.	G		2072,2334	569.8+/-382.7	492,1088,623	153	149	150		2592	0.2	0	7	dbSNP_107	150	4310,4290	578.1+/-390.7	1107,2096,1097	yes	coding-synonymous	ZC3HAV1	NM_020119.3		1599,3184,1720	AA,AG,GG		49.8837,47.0268,49.0697		864/903	138732457	6382,6624	2203	4300	6503	SO:0001819	synonymous_variant	56829	exon13			GCTGTCGAACTGT	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2592C>T	7.37:g.138732457G>A		Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	88	12	0.136364	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																			G|0.530;A|0.470	0.470	strong		0.428	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138732457	G	A	138732457	2	1	23	1	0	0	0	0	0	0	0	1	17572	1049	37	1		1	ZC3HAV1	7	138732457	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	129541	138732457	20406206	2039	18495										
ZC3HAV1	56829	hgsc.bcm.edu	37	chr7	138732497	138732497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtacgttatatttccttcaGtaaactttccaaccagaact	4	10	1	1	rs3735007	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138732497G>A	ENST00000242351.5	-	13	2868	c.2552C>T	c.(2551-2553)aCt>aTt	p.T851I	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.T973I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	851	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.		T -> I (in dbSNP:rs3735007). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTTCCTTCAGTAAACTTTCC	0.423													A|||	2661	0.53135	0.7141	0.3775	5008	,	,		17916	0.3611		0.5149	False		,,,				2504	0.5859				p.T851I		Atlas-SNP	.											ZC3HAV1,colon,carcinoma,+1,1	ZC3HAV1	75	1	0			c.C2552T						PASS	.	A	ILE/THR	3097,1309	442.7+/-346.8	1078,941,184	138	139	139		2552	-6	0	7	dbSNP_107	139	4460,4140	565.3+/-388.5	1187,2086,1027	yes	missense	ZC3HAV1	NM_020119.3	89	2265,3027,1211	AA,AG,GG		48.1395,29.7095,41.896	benign	851/903	138732497	7557,5449	2203	4300	6503	SO:0001583	missense	56829	exon13			CCTTCAGTAAACT	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2552C>T	7.37:g.138732497G>A	ENSP00000242351:p.Thr851Ile	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	71	8	0.112676	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	1100	0.5036630036630036	357	0.725609756097561	151	0.4171270718232044	212	0.3706293706293706	380	0.5013192612137203	A	0.581	-0.836941	0.02692	0.702905	0.518605	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.14391	2.51;2.51	5.23	-5.97	0.02227	Poly(ADP-ribose) polymerase, catalytic domain (2);	1.121610	0.06740	N	0.778240	T	0.00012	0.0000	N	0.20685	0.6	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.36138	-0.9760	9	0.08599	T	0.76	.	17.2686	0.87095	0.3726:0.0:0.6274:0.0	rs3735007;rs10360867;rs17608612;rs52796775;rs3735007	851	Q7Z2W4	ZCCHV_HUMAN	I	851;973	ENSP00000242351:T851I;ENSP00000418385:T973I	ENSP00000242351:T851I	T	-	2	0	ZC3HAV1	138383037	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.368000	0.07543	-1.518000	0.01778	-1.395000	0.01148	ACT	G|0.444;N|0.000	.	strong		0.423	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138732497	G	A	138732497	3	1	23	1	0	0	0	0	1	0	0	0	17572	1029	36	2	160	2	ZC3HAV1	7	138732497	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	40	138732497	20406166	2040	18496										
ZC3HAV1	56829	hgsc.bcm.edu	37	chr7	138740037	138740037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgaggtctttgctggctGatggctacaaataaagagaa	12	6	1	3	rs2297236	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138740037G>C	ENST00000242351.5	-	10	2417	c.2101C>G	c.(2101-2103)Cag>Gag	p.Q701E	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q823E	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	701			Q -> E (in dbSNP:rs2297236). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.Q701E(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTTGCTGGCTGATGGCTACAA	0.443													G|||	2830	0.565096	0.4629	0.5879	5008	,	,		17578	0.6776		0.5586	False		,,,				2504	0.5777				p.Q701E		Atlas-SNP	.											ZC3HAV1,NS,carcinoma,0,2	ZC3HAV1	75	2	1	Substitution - Missense(1)	prostate(1)	c.C2101G						PASS	.	G	GLU/GLN	2024,2382	562.9+/-381.1	494,1036,673	74	73	74		2101	1.8	0	7	dbSNP_100	74	4874,3726	617.9+/-396.7	1388,2098,814	yes	missense	ZC3HAV1	NM_020119.3	29	1882,3134,1487	CC,CG,GG		43.3256,45.9374,46.9629	possibly-damaging	701/903	138740037	6898,6108	2203	4300	6503	SO:0001583	missense	56829	exon10			CTGGCTGATGGCT	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2101C>G	7.37:g.138740037G>C	ENSP00000242351:p.Gln701Glu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	26	7	0.269231	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	1263	0.5782967032967034	236	0.4796747967479675	203	0.5607734806629834	396	0.6923076923076923	428	0.5646437994722955	G	9.696	1.153136	0.21371	0.459374	0.566744	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.06933	3.3;3.24	3.68	1.78	0.24846	.	0.662632	0.13300	N	0.398338	T	0.00012	0.0000	M	0.70595	2.14	0.58432	P	1.0000000000287557E-6	B	0.21452	0.056	B	0.19148	0.024	T	0.26815	-1.0092	9	0.12103	T	0.63	.	6.474	0.22024	0.0:0.2016:0.5901:0.2083	rs2297236;rs17682077;rs52835032;rs57637678;rs2297236	701	Q7Z2W4	ZCCHV_HUMAN	E	701;823	ENSP00000242351:Q701E;ENSP00000418385:Q823E	ENSP00000242351:Q701E	Q	-	1	0	ZC3HAV1	138390577	0.003000	0.15002	0.030000	0.17652	0.039000	0.13416	0.699000	0.25586	0.508000	0.28173	0.591000	0.81541	CAG	G|0.451;C|0.549	0.549	strong		0.443	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		C	138740037	G	C	138740037	3	2	23	1	0	0	0	0	1	0	0	0	17572	1299	45	4	623	4	ZC3HAV1	7	138740037	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7540	138740037	20398626	2041	18497										
UBN2	254048	hgsc.bcm.edu	37	chr7	138967814	138967814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaactccaacatccctggtGgcttcggttagcggtcctcc	9	14	0	0	rs61995684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:138967814G>A	ENST00000473989.3	+	15	2163	c.2163G>A	c.(2161-2163)gtG>gtA	p.V721V	UBN2_ENST00000288561.8_Silent_p.V638V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	721						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						CATCCCTGGTGGCTTCGGTTA	0.463													G|||	518	0.103435	0.1029	0.2666	5008	,	,		17571	0.0972		0.0368	False		,,,				2504	0.0634				p.V721V		Atlas-SNP	.											.	UBN2	90	.	0			c.G2163A						PASS	.	G		340,3524		18,304,1610	56	55	55		2163	4.9	1	7	dbSNP_129	55	292,7956		5,282,3837	no	coding-synonymous	UBN2	NM_173569.3		23,586,5447	AA,AG,GG		3.5403,8.7992,5.218		721/1348	138967814	632,11480	1932	4124	6056	SO:0001819	synonymous_variant	254048	exon15			CCTGGTGGCTTCG	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.2163G>A	7.37:g.138967814G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	71	12	0.169014	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2																																																																																			G|0.927;A|0.073	0.073	strong		0.463	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138967814	G	A	138967814	2	1	23	1	0	0	0	0	0	0	0	1	16890	1335	47	2		2	UBN2	7	138967814	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	227777	138967814	20170849	2042	18498										
KLRG2	346689	hgsc.bcm.edu	37	chr7	139138950	139138950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctggagactgggtatctgCccaggaagtcctgagggaga	16	9	1	3	rs17160911	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:139138950C>G	ENST00000340940.4	-	4	1085	c.1016G>C	c.(1015-1017)gGc>gCc	p.G339A	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	339	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		G -> A (in dbSNP:rs17160911).			integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					TGGGTATCTGCCCAGGAAGTC	0.667													C|||	877	0.17512	0.2088	0.1311	5008	,	,		14984	0.2113		0.1252	False		,,,				2504	0.1748				p.G339A		Atlas-SNP	.											KLRG2,NS,carcinoma,0,3	KLRG2	22	3	0			c.G1016C						PASS	.						13	10	11					7																	139138950		1870	3571	5441	SO:0001583	missense	346689	exon4			TATCTGCCCAGGA	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.1016G>C	7.37:g.139138950C>G	ENSP00000339356:p.Gly339Ala	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_198508	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	340	0.15567765567765568	93	0.18902439024390244	46	0.1270718232044199	110	0.19230769230769232	91	0.12005277044854881	C	6.481	0.456958	0.12283	.	.	ENSG00000188883	ENST00000340940	T	0.16897	2.31	4.78	2.9	0.33743	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.692200	0.12721	N	0.444710	T	0.00012	0.0000	N	0.08118	0	0.20764	P	0.999855632	B	0.18166	0.026	B	0.19391	0.025	T	0.40942	-0.9536	9	0.07325	T	0.83	-8.5467	7.5752	0.27931	0.1896:0.6275:0.1829:0.0	rs17160911;rs17160911	339	A4D1S0	KLRG2_HUMAN	A	339	ENSP00000339356:G339A	ENSP00000339356:G339A	G	-	2	0	KLRG2	138789490	0.488000	0.25996	0.542000	0.28115	0.903000	0.53119	0.271000	0.18626	0.578000	0.29487	0.655000	0.94253	GGC	C|0.832;G|0.166	0.166	strong		0.667	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		G	139138950	C	G	139138950	3	3	23	1	0	0	0	0	1	0	0	0	8422	739	26	4	221	4	KLRG2	7	139138950	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	171136	139138950	19999713	2043	18499										
JHDM1D	80853	hgsc.bcm.edu	37	chr7	139801777	139801777	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatggacacatctctaatcTtttgaggacctcccttgtgt	7	12	2	1	rs1062277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:139801777T>G	ENST00000397560.2	-	12	1709	c.1612A>C	c.(1612-1614)Aga>Cga	p.R538R	JHDM1D_ENST00000006967.5_Silent_p.R538R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		538					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATCTCTAATCTTTTGAGGACC	0.398													T|||	1670	0.333466	0.416	0.281	5008	,	,		20517	0.245		0.335	False		,,,				2504	0.3487				p.R538R		Atlas-SNP	.											.	JHDM1D	54	.	0			c.A1612C						PASS	.	T		1448,2302		272,904,699	191	171	178		1612	5.9	0.8	7	dbSNP_86	178	2794,5418		479,1836,1791	no	coding-synonymous	JHDM1D	NM_030647.1		751,2740,2490	GG,GT,TT		34.0234,38.6133,35.4623		538/942	139801777	4242,7720	1875	4106	5981	SO:0001819	synonymous_variant	80853	exon12			CTAATCTTTTGAG																												ENST00000397560.2:c.1612A>C	7.37:g.139801777T>G		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	154	108	0.701299	NM_030647	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	CCDS43658.1																																																																																			T|0.659;G|0.341	0.341	strong		0.398	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			G	139801777	T	G	139801777	2	3	23	1	0	0	0	0	0	0	0	1	7948	1617	56	5		5	JHDM1D	7	139801777	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	662827	139801777	19336886	2044	18500										
TAS2R41	259287	hgsc.bcm.edu	37	chr7	143175345	143175345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggctgaagtggaggttccCagggtgggtgccctggctcc	18	10	0	1	rs10278721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:143175345C>T	ENST00000408916.1	+	1	380	c.380C>T	c.(379-381)cCa>cTa	p.P127L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	127			P -> L (in dbSNP:rs10278721). {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGAGGTTCCCAGGGTGGGTG	0.498													C|||	1058	0.211262	0.0227	0.2695	5008	,	,		15749	0.2956		0.2535	False		,,,				2504	0.2945				p.P127L		Atlas-SNP	.											.	TAS2R41	43	.	0			c.C380T						PASS	.	C	LEU/PRO	232,3666		9,214,1726	57	56	57		380	1.5	0.3	7	dbSNP_119	57	2266,6026		312,1642,2192	yes	missense	TAS2R41	NM_176883.2	98	321,1856,3918	TT,TC,CC		27.3275,5.9518,20.4922	benign	127/308	143175345	2498,9692	1949	4146	6095	SO:0001583	missense	259287	exon1			GGTTCCCAGGGTG	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.380C>T	7.37:g.143175345C>T	ENSP00000386201:p.Pro127Leu	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	CCDS43663.1	497	0.22756410256410256	19	0.03861788617886179	95	0.26243093922651933	193	0.3374125874125874	190	0.25065963060686014	C	15.91	2.973193	0.53614	0.059518	0.273275	ENSG00000221855	ENST00000408916	T	0.33654	1.4	5.7	1.47	0.22746	.	0.790114	0.10721	U	0.641758	T	0.00012	0.0000	L	0.35593	1.075	0.80722	P	0.0	B	0.33583	0.418	B	0.32393	0.145	T	0.42068	-0.9473	9	0.62326	D	0.03	.	1.6792	0.02828	0.1616:0.3844:0.2791:0.175	rs10278721;rs10278721	127	P59536	T2R41_HUMAN	L	127	ENSP00000386201:P127L	ENSP00000386201:P127L	P	+	2	0	TAS2R41	142885467	0.000000	0.05858	0.272000	0.24630	0.814000	0.46013	0.291000	0.18994	0.745000	0.32763	0.655000	0.94253	CCA	C|0.770;T|0.230	0.230	strong		0.498	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143175345	C	T	143175345	3	4	23	1	0	0	0	0	1	0	0	0	15576	594	21	2	382	2	TAS2R41	7	143175345	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3373568	143175345	15963318	2045	18501										
CTAGE4	100128553	hgsc.bcm.edu	37	chr7	143882673	143882673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaagcaactggccctggcCttattcctccacctcttgct	7	15	1	1	rs201010806	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:143882673C>T	ENST00000486333.1	+	1	2115	c.2077C>T	c.(2077-2079)Ctt>Ttt	p.L693F		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	693	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TGGCCCTGGCCTTATTCCTCC	0.488																																					p.L693F		Atlas-SNP	.											CTAGE4,NS,carcinoma,0,1	CTAGE4	10	1	0			c.C2077T						scavenged	.						3	4	4					7																	143882673		116	650	766	SO:0001583	missense	100128553	exon1			CCTGGCCTTATTC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2077C>T	7.37:g.143882673C>T	ENSP00000419539:p.Leu693Phe	Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	215	72	0.334884	NM_198495	A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	0.639	-0.814097	0.02798	.	.	ENSG00000225932	ENST00000486333	T	0.05447	3.44	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.00016	-2.855	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	7	0.02654	T	1	.	.	.	.	.	693	Q8IX94	CTGE4_HUMAN	F	693	ENSP00000419539:L693F	ENSP00000419539:L693F	L	+	1	0	CTAGE4	143513606	0.830000	0.29337	0.003000	0.11579	0.003000	0.03518	0.348000	0.20031	-1.497000	0.01826	-1.514000	0.00941	CTT	.	.	weak		0.488	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		T	143882673	C	T	143882673	3	4	23	1	0	0	0	0	1	0	0	0	3993	681	24	2	2079	2	CTAGE4	7	143882673	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	707328	143882673	15255990	2046	18502										
NOBOX	135935	hgsc.bcm.edu	37	chr7	144096068	144096068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccccaggacccacaggggcCgtccttgtggctgctgtcac	12	17	1	0	rs2525702	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:144096068C>T	ENST00000467773.1	-	8	1443	c.1444G>A	c.(1444-1446)Ggc>Agc	p.G482S	NOBOX_ENST00000483238.1_Missense_Mutation_p.G450S|NOBOX_ENST00000223140.5_Missense_Mutation_p.G365S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	482	Pro-rich.		G -> S (in dbSNP:rs2525702). {ECO:0000269|PubMed:17701902}.		oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACAGGGGCCGTCCTTGTGG	0.597													C|||	812	0.162141	0.2413	0.1124	5008	,	,		15514	0.0238		0.1561	False		,,,				2504	0.2393				p.G482S		Atlas-SNP	.											NOBOX_ENST00000467773,NS,carcinoma,0,2	NOBOX	130	2	0			c.G1444A						scavenged	.	C	SER/GLY	809,2975		105,599,1188	11	11	11		1444	3.3	0.2	7	dbSNP_100	11	1323,6897		126,1071,2913	yes	missense	NOBOX	NM_001080413.3	56	231,1670,4101	TT,TC,CC		16.0949,21.3795,17.7607	possibly-damaging	482/692	144096068	2132,9872	1892	4110	6002	SO:0001583	missense	135935	exon8			AGGGGCCGTCCTT			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1444G>A	7.37:g.144096068C>T	ENSP00000419457:p.Gly482Ser	Somatic	329	1	0.00303951		WXS	Illumina HiSeq	Phase_I	224	64	0.285714	NM_001080413	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		258	0.11813186813186813	91	0.18495934959349594	43	0.11878453038674033	4	0.006993006993006993	120	0.158311345646438	C	12.44	1.937408	0.34189	0.213795	0.160949	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	T;T;T	0.32988	1.43;1.43;1.43	4.25	3.35	0.38373	.	0.765147	0.12242	N	0.486405	T	0.00039	0.0001	M	0.63843	1.955	0.58432	P	5.999999999950489E-6	B	0.26672	0.156	B	0.17098	0.017	T	0.11494	-1.0585	9	0.28530	T	0.3	-11.259	7.0702	0.25173	0.0:0.8736:0.0:0.1264	rs2525702;rs10370641;rs2525702	482	O60393	NOBOX_HUMAN	S	450;482;365	ENSP00000419565:G450S;ENSP00000419457:G482S;ENSP00000223140:G365S	ENSP00000223140:G365S	G	-	1	0	NOBOX	143727001	0.000000	0.05858	0.164000	0.22755	0.185000	0.23345	0.481000	0.22260	0.974000	0.38366	0.655000	0.94253	GGC	C|0.876;T|0.124	0.124	strong		0.597	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144096068	C	T	144096068	3	4	23	1	0	0	0	0	1	0	0	0	10512	652	23	1	643	1	NOBOX	7	144096068	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	213395	144096068	15042595	2047	18503										
ZNF777	27153	hgsc.bcm.edu	37	chr7	149129829	149129829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcgccagccttttcactgCggggtttcctagctgcaggg	15	12	1	0	rs17852167	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149129829C>T	ENST00000247930.4	-	6	1857	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	512			A -> T (in dbSNP:rs17852167). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTTTTCACTGCGGGGTTTCCT	0.716													C|||	769	0.153554	0.143	0.0677	5008	,	,		16217	0.1121		0.1034	False		,,,				2504	0.3231				p.A512T		Atlas-SNP	.											.	ZNF777	63	.	0			c.G1534A						PASS	.	C	THR/ALA	475,3405		29,417,1494	17	20	19		1534	0.4	0	7	dbSNP_123	19	885,7331		50,785,3273	yes	missense	ZNF777	NM_015694.2	58	79,1202,4767	TT,TC,CC		10.7717,12.2423,11.2434	benign	512/832	149129829	1360,10736	1940	4108	6048	SO:0001583	missense	27153	exon6			TCACTGCGGGGTT	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1534G>A	7.37:g.149129829C>T	ENSP00000247930:p.Ala512Thr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	50	50	1	NM_015694	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	239	0.10943223443223443	66	0.13414634146341464	23	0.06353591160220995	76	0.13286713286713286	74	0.09762532981530343	C	0.082	-1.182113	0.01633	0.122423	0.107717	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.04970	3.52	4.43	0.385	0.16249	.	0.780284	0.11162	N	0.593006	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	B	0.15473	0.013	B	0.08055	0.003	T	0.42548	-0.9445	9	0.72032	D	0.01	-4.1052	2.9869	0.05971	0.1937:0.402:0.0:0.4043	rs17852167	512	Q9ULD5-2	.	T	512;255	ENSP00000247930:A512T	ENSP00000247930:A512T	A	-	1	0	ZNF777	148760762	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.112000	0.10791	0.501000	0.28013	0.460000	0.39030	GCA	C|0.898;T|0.102	0.102	strong		0.716	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		T	149129829	C	T	149129829	3	4	23	1	0	0	0	0	1	0	0	0	18147	768	27	1	965	1	ZNF777	7	149129829	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5033761	149129829	10008834	2048	18504										
SSPO	23145	hgsc.bcm.edu	37	chr7	149473614	149473614	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgggctctgtcctatctAcaagtgagtaagggtgagag	14	8	2	2	rs117048984	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149473614A>G	ENST00000378016.2	+	0	230							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)			TGTCCTATCTACAAGTGAGTA	0.647													A|||	81	0.0161741	0.0023	0.0375	5008	,	,		12978	0.0		0.0408	False		,,,				2504	0.0112				p.Y77C		Atlas-SNP	.											.	.	.	.	0			c.A230G						PASS	.	A	CYS/TYR	24,3720		1,22,1849	8	9	8		230	3.8	1	7	dbSNP_132	8	323,7807		2,319,3744	yes	missense	SSPO	NM_198455.2	194	3,341,5593	GG,GA,AA		3.9729,0.641,2.9224	probably-damaging	77/5148	149473614	347,11527	1872	4065	5937			23145	exon2			CTATCTACAAGTG	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		7.37:g.149473614A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	37	30	0.810811	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.980;G|0.020	0.020	strong		0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149473614	A	G	149473614	1	3	23	0	1	0	0	0	0	0	0	0	15188	391	14	2		2	SSPO	7	149473614	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	343785	149473614	9665049	2049	18505										
SSPO	23145	hgsc.bcm.edu	37	chr7	149484798	149484798	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctcgggcccgctgtggggCgctgctgcagccgctcttca	16	15	2	0	rs62490656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149484798C>T	ENST00000378016.2	+	0	3620							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)			CGCTGTGGGGCGCTGCTGCAG	0.667													C|||	832	0.166134	0.0234	0.2147	5008	,	,		16879	0.1518		0.2495	False		,,,				2504	0.2536				p.A1207V		Atlas-SNP	.											.	.	.	.	0			c.C3620T						PASS	.	C		177,3887		1,175,1856	7	10	9		3624	-2.7	0	7	dbSNP_129	9	1883,6435		211,1461,2487	no	coding-notMod3	SSPO	NM_198455.2		212,1636,4343	TT,TC,CC		22.6377,4.3553,16.6371			149484798	2060,10322	2032	4159	6191			23145	exon25			GTGGGGCGCTGCT	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		7.37:g.149484798C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	18	12	0.666667	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.826;T|0.174	0.174	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149484798	C	T	149484798	1	4	23	0	1	0	0	0	0	0	0	0	15188	768	27	1		1	SSPO	7	149484798	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11184	149484798	9653865	2050	18506										
SSPO	23145	hgsc.bcm.edu	37	chr7	149485557	149485557	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgaggggactctgctgcaCggtgtgtagagtgacaaagg	16	9	1	2	rs73168056	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149485557C>T	ENST00000378016.2	+	0	3963							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)			CTCTGCTGCACGGTGTGTAGA	0.652													C|||	65	0.0129792	0.0008	0.0548	5008	,	,		20320	0.0		0.0209	False		,,,				2504	0.0051				p.H1321H		Atlas-SNP	.											.	.	.	.	0			c.C3963T						PASS	.	C		18,4176		1,16,2080	34	41	39		3967	-6.3	0.6	7	dbSNP_130	39	136,8306		1,134,4086	yes	coding-notMod3-near-splice	SSPO	NM_198455.2		2,150,6166	TT,TC,CC		1.611,0.4292,1.2187			149485557	154,12482	2097	4221	6318			23145	exon27			GCTGCACGGTGTG	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		7.37:g.149485557C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	86	15	0.174419	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.986;T|0.014	0.014	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149485557	C	T	149485557	1	4	23	0	1	0	0	0	0	0	0	0	15188	550	19	1		1	SSPO	7	149485557	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	759	149485557	9653106	2051	18507										
SSPO	23145	hgsc.bcm.edu	37	chr7	149489540	149489540	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccaagacggacggccccGacgctgccgactcaacccgg	12	18	1	1	rs199795943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149489540G>A	ENST00000378016.2	+	0	5693							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)			GGACGGCCCCGACGCTGCCGA	0.692													G|||	7	0.00139776	0.0	0.0014	5008	,	,		15662	0.0		0.005	False		,,,				2504	0.001				p.R1898Q		Atlas-SNP	.											.	.	.	.	0			c.G5693A						PASS	.	G		2,4260		0,2,2129	14	21	19		5697	-0.2	0.1	7		19	30,8422		0,30,4196	no	coding-notMod3	SSPO	NM_198455.2		0,32,6325	AA,AG,GG		0.3549,0.0469,0.2517			149489540	32,12682	2131	4226	6357			23145	exon37			GGCCCCGACGCTG	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		7.37:g.149489540G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	7	5	0.714286	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.998;A|0.002	0.002	weak		0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149489540	G	A	149489540	1	1	23	0	1	0	0	0	0	0	0	0	15188	1058	37	1		1	SSPO	7	149489540	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3983	149489540	9649123	2052	18508										
SSPO	23145	hgsc.bcm.edu	37	chr7	149513560	149513560	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcaggtgggctgcttctcTgagggctgcgaggagggctg	19	9	1	1	rs12674102	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149513560T>C	ENST00000378016.2	+	0	11181							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)			GCTGCTTCTCTGAGGGCTGCG	0.706													C|||	1992	0.397764	0.5287	0.3746	5008	,	,		12159	0.4127		0.2982	False		,,,				2504	0.3241				p.S3727S		Atlas-SNP	.											.	.	.	.	0			c.T11181C						PASS	.	C		1846,2182		464,918,632	10	14	13		11191	-6	0	7	dbSNP_120	13	2594,5680		455,1684,1998	yes	coding-notMod3	SSPO	NM_198455.2		919,2602,2630	CC,CT,TT		31.3512,45.8292,36.0917			149513560	4440,7862	2014	4137	6151			23145	exon78			CTTCTCTGAGGGC	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		7.37:g.149513560T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	49	7	0.142857	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				T|0.614;C|0.386	0.386	strong		0.706	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149513560	T	C	149513560	1	2	23	0	1	0	0	0	0	0	0	0	15188	1567	55	3		3	SSPO	7	149513560	RNA	SNP	T	TCGA-GR-7353-01A-11D-2210-10	24020	149513560	9625103	2053	18509			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149515103	149515103	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctcctgtggagggctgggCacccgtacccgcagccgcca	14	17	0	0	rs10250401	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149515103C>T	ENST00000378016.2	+	0	11493							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)			GAGGGCTGGGCACCCGTACCC	0.697													C|||	1017	0.203075	0.2496	0.2003	5008	,	,		13910	0.1746		0.1551	False		,,,				2504	0.2209				p.G3831G		Atlas-SNP	.											.	.	.	.	0			c.C11493T						PASS	.	C		791,3127		104,583,1272	18	23	21		11503	-3.3	0.9	7	dbSNP_119	21	1369,6887		106,1157,2865	yes	coding-notMod3	SSPO	NM_198455.2		210,1740,4137	TT,TC,CC		16.5819,20.1889,17.7427			149515103	2160,10014	1959	4128	6087			23145	exon80			GCTGGGCACCCGT	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		7.37:g.149515103C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	44	5	0.113636	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.840;T|0.160	0.160	strong		0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149515103	C	T	149515103	1	4	23	0	1	0	0	0	0	0	0	0	15188	697	25	2		2	SSPO	7	149515103	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1543	149515103	9623560	2054	18510			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149515796	149515796	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagaagctgcacggacccCgctcgccctgcatggcgcag	12	17	0	1	rs1557956	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149515796C>T	ENST00000378016.2	+	0	11697							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)			GCACGGACCCCGCTCGCCCTG	0.692													c|||	1008	0.201278	0.2474	0.1945	5008	,	,		11954	0.1746		0.1541	False		,,,				2504	0.2198				p.P3899P		Atlas-SNP	.											.	.	.	.	0			c.C11697T						PASS	.	C		785,3175		101,583,1296	17	20	19		11711	-8.3	0	7	dbSNP_88	19	1369,6923		100,1169,2877	yes	coding-notMod3	SSPO	NM_198455.2		201,1752,4173	TT,TC,CC		16.5099,19.8232,17.5808			149515796	2154,10098	1980	4146	6126			23145	exon83			GGACCCCGCTCGC	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		7.37:g.149515796C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	37	4	0.108108	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.816;T|0.184	0.184	strong		0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149515796	C	T	149515796	1	4	23	0	1	0	0	0	0	0	0	0	15188	639	23	1		1	SSPO	7	149515796	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	693	149515796	9622867	2055	18511			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149516881	149516881	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaggccaatccctgagaaGccgcagctgctcaagccccc	12	16	1	1	rs1005603	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149516881G>T	ENST00000378016.2	+	0	12083							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)			TCCCTGAGAAGCCGCAGCTGC	0.672													G|||	1041	0.207867	0.2708	0.2003	5008	,	,		14695	0.1746		0.1551	False		,,,				2504	0.2168				p.S4028I		Atlas-SNP	.											.	.	.	.	0			c.G12083T						PASS	.	G		752,2948		88,576,1186	11	16	14		12097	3.1	1	7	dbSNP_86	14	1258,6762		91,1076,2843	yes	coding-notMod3	SSPO	NM_198455.2		179,1652,4029	TT,TG,GG		15.6858,20.3243,17.1502			149516881	2010,9710	1850	4010	5860			23145	exon85			TGAGAAGCCGCAG	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		7.37:g.149516881G>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	58	17	0.293103	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.799;T|0.201	0.201	strong		0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149516881	G	T	149516881	1	4	23	0	1	0	0	0	0	0	0	0	15188	971	34	4		4	SSPO	7	149516881	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1085	149516881	9621782	2056	18512			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149518961	149518961	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcccacagtgcctgaggcTtggacgctgtggtcctcctg	12	15	0	1	rs1008335	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149518961T>C	ENST00000378016.2	+	0	12765							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)			TGCCTGAGGCTTGGACGCTGT	0.667													C|||	2318	0.462859	0.7481	0.3833	5008	,	,		17849	0.4256		0.3091	False		,,,				2504	0.3303				p.A4255A		Atlas-SNP	.											.	.	.	.	0			c.T12765C						PASS	.	C		2831,1417		970,891,263	15	18	17		12779	2.1	0.8	7	dbSNP_86	17	2794,5670		476,1842,1914	yes	coding-notMod3	SSPO	NM_198455.2		1446,2733,2177	CC,CT,TT		33.0104,33.3569,44.2495			149518961	5625,7087	2124	4232	6356			23145	exon90			TGAGGCTTGGACG	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		7.37:g.149518961T>C		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	174	40	0.229885	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				T|0.554;C|0.446	0.446	strong		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149518961	T	C	149518961	1	2	23	0	1	0	0	0	0	0	0	0	15188	1596	56	3		3	SSPO	7	149518961	RNA	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2080	149518961	9619702	2057	18513			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149519184	149519184	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggcccgggcctggcctctCgctctgggtcctgcccctgc	14	19	2	0	rs1008336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149519184C>T	ENST00000378016.2	+	0	12988							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)			CCTGGCCTCTCGCTCTGGGTC	0.726													C|||	893	0.178315	0.1581	0.196	5008	,	,		13745	0.1736		0.1561	False		,,,				2504	0.2209				p.R4330C		Atlas-SNP	.											.	.	.	.	0			c.C12988T						PASS	.	C		567,3237		42,483,1377	25	27	26		13002	3.6	1	7	dbSNP_86	26	1371,6847		107,1157,2845	no	coding-notMod3	SSPO	NM_198455.2		149,1640,4222	TT,TC,CC		16.6829,14.9054,16.1204			149519184	1938,10084	1902	4109	6011			23145	exon90			GCCTCTCGCTCTG	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		7.37:g.149519184C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	15	4	0.266667	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.831;T|0.169	0.169	strong		0.726	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149519184	C	T	149519184	1	4	23	0	1	0	0	0	0	0	0	0	15188	884	31	1		1	SSPO	7	149519184	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	223	149519184	9619479	2058	18514			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149519742	149519742	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggctggatggccacttccGgccttgccttatcagcaact	11	14	1	0	rs201102091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149519742G>A	ENST00000378016.2	+	0	13232							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)			GGCCACTTCCGGCCTTGCCTT	0.687													G|||	6	0.00119808	0.0	0.0029	5008	,	,		15642	0.0		0.003	False		,,,				2504	0.001				p.R4411Q		Atlas-SNP	.											.	.	.	.	0			c.G13232A						PASS	.	G		5,3807		0,5,1901	6	8	8		13246	4	1	7		8	36,8100		0,36,4032	yes	coding-notMod3	SSPO	NM_198455.2		0,41,5933	AA,AG,GG		0.4425,0.1312,0.3432			149519742	41,11907	1906	4068	5974			23145	exon91			ACTTCCGGCCTTG	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		7.37:g.149519742G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	48	11	0.229167	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.	.	weak		0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149519742	G	A	149519742	1	1	23	0	1	0	0	0	0	0	0	0	15188	1116	39	1		1	SSPO	7	149519742	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	558	149519742	9618921	2059	18515			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149521183	149521183	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccctcccacagtgaatgccGgcgtggggagctgcactgca	13	15	0	1	rs4389841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149521183G>A	ENST00000378016.2	+	0	13523							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)			AGTGAATGCCGGCGTGGGGAG	0.617													G|||	745	0.148762	0.0537	0.1873	5008	,	,		17753	0.1746		0.1551	False		,,,				2504	0.2168				p.R4508Q		Atlas-SNP	.											.	.	.	.	0			c.G13523A						PASS	.	G		252,3694		14,224,1735	34	38	37		13537	-8	0	7	dbSNP_111	37	1409,6969		104,1201,2884	yes	coding-notMod3	SSPO	NM_198455.2		118,1425,4619	AA,AG,GG		16.8179,6.3862,13.4778			149521183	1661,10663	1973	4189	6162			23145	exon94			AATGCCGGCGTGG	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		7.37:g.149521183G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	75	9	0.12	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.848;A|0.152	0.152	strong		0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149521183	G	A	149521183	1	1	23	0	1	0	0	0	0	0	0	0	15188	1116	39	1		1	SSPO	7	149521183	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1441	149521183	9617480	2060	18516			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149521544	149521544	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggccctgcctgccgcccagCgccctggcccctgcctccag	12	22	0	0	rs12673475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149521544C>T	ENST00000378016.2	+	0	13623							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)			TGCCGCCCAGCGCCCTGGCCC	0.687													C|||	826	0.164936	0.1097	0.1931	5008	,	,		15920	0.1736		0.1551	False		,,,				2504	0.2209				p.S4541S		Atlas-SNP	.											.	.	.	.	0			c.C13623T						PASS	.	C		466,3646		29,408,1619	19	24	22		13637	-2.5	0	7	dbSNP_120	22	1419,6941		113,1193,2874	no	coding-notMod3	SSPO	NM_198455.2		142,1601,4493	TT,TC,CC		16.9737,11.3327,15.1139			149521544	1885,10587	2056	4180	6236			23145	exon95			GCCCAGCGCCCTG	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		7.37:g.149521544C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	20	4	0.2	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				C|0.845;T|0.155	0.155	strong		0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149521544	C	T	149521544	1	4	23	0	1	0	0	0	0	0	0	0	15188	767	27	1		1	SSPO	7	149521544	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	361	149521544	9617119	2061	18517			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149522162	149522162	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccctctgtggaggaggctGccgggagccatgggctcaag	18	11	2	0	rs62617122	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149522162G>T	ENST00000378016.2	+	0	13949							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)			GGAGGAGGCTGCCGGGAGCCA	0.652													G|||	843	0.168331	0.1233	0.1931	5008	,	,		15528	0.1746		0.1551	False		,,,				2504	0.2188				p.C4650F		Atlas-SNP	.											.	.	.	.	0			c.G13949T						PASS	.	G		469,3329		33,403,1463	19	25	23		13963	4.4	0.5	7	dbSNP_129	23	1386,6814		110,1166,2824	yes	coding-notMod3	SSPO	NM_198455.2		143,1569,4287	TT,TG,GG		16.9024,12.3486,15.4609			149522162	1855,10143	1899	4100	5999			23145	exon96			GAGGCTGCCGGGA	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		7.37:g.149522162G>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	68	12	0.176471	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.840;T|0.160	0.160	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149522162	G	T	149522162	1	4	23	0	1	0	0	0	0	0	0	0	15188	1319	46	4		4	SSPO	7	149522162	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	618	149522162	9616501	2062	18518			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149523277	149523277	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggggcactatggagcgacAtcggacttgtgaggggggtc	19	7	0	1	rs1004200	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149523277A>G	ENST00000378016.2	+	0	14363							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)			ATGGAGCGACATCGGACTTGT	0.652													A|||	2248	0.448882	0.7027	0.3732	5008	,	,		19271	0.4286		0.3052	False		,,,				2504	0.3282				p.H4787R		Atlas-SNP	.											.	.	.	.	0			c.A14360G						PASS	.	A	ARG/HIS	2525,1401		843,839,281	37	46	43		14379	1.6	0	7	dbSNP_86	43	2714,5562		449,1816,1873	no	missense	SSPO	NM_198455.2	29	1292,2655,2154	GG,GA,AA		32.7936,35.6852,42.9356	benign	4787/5148	149523277	5239,6963	1963	4138	6101			23145	exon101			AGCGACATCGGAC	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		7.37:g.149523277A>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	32	6	0.1875	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				A|0.586;G|0.414	0.414	strong		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149523277	A	G	149523277	1	3	23	0	1	0	0	0	0	0	0	0	15188	217	8	2		2	SSPO	7	149523277	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1115	149523277	9615386	2063	18519			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
SSPO	23145	hgsc.bcm.edu	37	chr7	149528262	149528262	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagctcctcacggagcttCgaaacttcaccaaagggacc	9	15	2	0	rs10261977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149528262C>T	ENST00000378016.2	+	0	15181							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)			CACGGAGCTTCGAAACTTCAC	0.612													C|||	934	0.186502	0.1936	0.1945	5008	,	,		13639	0.1736		0.1511	False		,,,				2504	0.2209				p.R5060X		Atlas-SNP	.											.	.	.	.	0			c.C15178T						PASS	.	C	stop/ARG	746,3058		77,592,1233	42	46	45		15197	3.3	0.9	7	dbSNP_119	45	1356,6878		107,1142,2868	yes	stop-gained	SSPO	NM_198455.2		184,1734,4101	TT,TC,CC		16.4683,19.6109,17.4614		5060/5148	149528262	2102,9936	1902	4117	6019			23145	exon108			GAGCTTCGAAACT	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		7.37:g.149528262C>T		Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	172	41	0.238372	NM_198455	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.823;T|0.177	0.177	strong		0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149528262	C	T	149528262	1	4	23	0	1	0	0	0	0	0	0	0	15188	876	31	1		1	SSPO	7	149528262	RNA	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4985	149528262	9610401	2064	18520			12	81	48828967	12	12	14703	N	T_G_C_A	2.671609e-05
ZNF862	643641	hgsc.bcm.edu	37	chr7	149559465	149559465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgatgacagctgtgaacggCgtggccgtcacggagtacga	15	9	1	3	rs2074701	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:149559465C>T	ENST00000223210.4	+	7	3461	c.3216C>T	c.(3214-3216)ggC>ggT	p.G1072G	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1072					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTGTGAACGGCGTGGCCGTCA	0.612													C|||	2193	0.437899	0.4743	0.487	5008	,	,		21205	0.3264		0.5686	False		,,,				2504	0.3344				p.G1072G		Atlas-SNP	.											ZNF862,NS,carcinoma,0,1	ZNF862	97	1	0			c.C3216T						PASS	.	C		2229,2119		580,1069,525	47	58	54		3216	-10.4	0.1	7	dbSNP_96	54	5033,3517		1511,2011,753	no	coding-synonymous	ZNF862	NM_001099220.1		2091,3080,1278	TT,TC,CC		41.1345,48.7351,43.6967		1072/1170	149559465	7262,5636	2174	4275	6449	SO:0001819	synonymous_variant	643641	exon7			GAACGGCGTGGCC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3216C>T	7.37:g.149559465C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_001099220	A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																			C|0.500;T|0.500	0.500	strong		0.612	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		T	149559465	C	T	149559465	2	4	23	1	0	0	0	0	0	0	0	1	18192	755	27	1		1	ZNF862	7	149559465	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31203	149559465	9579198	2065	18521										
TMEM176A	55365	hgsc.bcm.edu	37	chr7	150501455	150501455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctctgtccccaggccttGttcagaacccttcaggccat	8	17	3	1	rs10378	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150501455G>T	ENST00000484928.1	+	6	1142	c.561G>T	c.(559-561)ttG>ttT	p.L187F	TMEM176A_ENST00000004103.3_Missense_Mutation_p.L187F|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L128F			Q96HP8	T176A_HUMAN	transmembrane protein 176A	187			L -> F (in dbSNP:rs10378).		negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGCCTTGTTCAGAACCC	0.557													G|||	640	0.127796	0.1694	0.1354	5008	,	,		20904	0.0397		0.172	False		,,,				2504	0.1115				p.L187F		Atlas-SNP	.											.	TMEM176A	35	.	0			c.G561T						PASS	.	G	PHE/LEU	721,3685	298.1+/-285.1	63,595,1545	141	116	125		561	2.7	0.2	7	dbSNP_52	125	1471,7129	280.2+/-294.4	137,1197,2966	yes	missense	TMEM176A	NM_018487.2	22	200,1792,4511	TT,TG,GG		17.1047,16.364,16.8538	probably-damaging	187/236	150501455	2192,10814	2203	4300	6503	SO:0001583	missense	55365	exon6			GGCCTTGTTCAGA	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.561G>T	7.37:g.150501455G>T	ENSP00000417626:p.Leu187Phe	Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	65	64	0.984615	NM_018487	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	291	0.13324175824175824	96	0.1951219512195122	60	0.16574585635359115	20	0.03496503496503497	115	0.1517150395778364	G	7.483	0.649161	0.14516	0.16364	0.171047	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536	T;T;T;T	0.03124	4.04;4.04;4.04;4.04	4.51	2.65	0.31530	.	0.126159	0.32231	U	0.006381	T	0.00012	0.0000	M	0.73962	2.25	0.40538	P	0.019001000000000046	D	0.89917	1.0	D	0.91635	0.999	T	0.09143	-1.0688	9	0.72032	D	0.01	-13.187	8.4204	0.32696	0.0912:0.0:0.7562:0.1526	rs10378;rs3177203;rs3184409;rs11537895;rs17295692;rs17350117;rs10378	187	Q96HP8	T176A_HUMAN	F	187;187;128;139	ENSP00000417626:L187F;ENSP00000004103:L187F;ENSP00000420818:L128F;ENSP00000417834:L139F	ENSP00000004103:L187F	L	+	3	2	TMEM176A	150132388	0.192000	0.23301	0.154000	0.22540	0.002000	0.02628	0.701000	0.25616	0.110000	0.17919	-2.086000	0.00376	TTG	G|0.847;T|0.153	0.153	strong		0.557	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		T	150501455	G	T	150501455	3	4	23	1	0	0	0	0	1	0	0	0	16089	1368	48	4	579	4	TMEM176A	7	150501455	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	941990	150501455	8637208	2066	18522										
KCNH2	3757	hgsc.bcm.edu	37	chr7	150645534	150645534	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccctcccccgcctcacccTtgtccgtgcgcctgcggaag	9	21	1	0	rs1805123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150645534T>G	ENST00000262186.5	-	11	3091	c.2690A>C	c.(2689-2691)aAg>aCg	p.K897T	KCNH2_ENST00000392968.2_Missense_Mutation_p.K801T|KCNH2_ENST00000330883.4_Missense_Mutation_p.K557T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	897			K -> T (in dbSNP:rs1805123). {ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:11997281}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	cgcctcacccTTGTCCGTGCG	0.667													T|||	682	0.136182	0.0068	0.17	5008	,	,		7620	0.0536		0.2535	False		,,,				2504	0.2515				p.K897T	GBM(137;110 1844 13671 20123 45161)	Atlas-SNP	.											KCNH2,colon,carcinoma,0,1	KCNH2	157	1	0			c.A2690C	GRCh37	CM004877	KCNH2	M	rs1805123	PASS	.	T	THR/LYS,THR/LYS	199,4207	116.7+/-154.6	8,183,2012	27	27	27		2690,1670	0	1	7	dbSNP_89	27	2000,6600	322.6+/-315.6	248,1504,2548	yes	missense,missense	KCNH2	NM_000238.3,NM_172057.2	78,78	256,1687,4560	GG,GT,TT		23.2558,4.5166,16.9076	benign,benign	897/1160,557/820	150645534	2199,10807	2203	4300	6503	SO:0001583	missense	3757	exon11			TCACCCTTGTCCG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2690A>C	7.37:g.150645534T>G	ENSP00000262186:p.Lys897Thr	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	34	33	0.970588	NM_000238	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	282	0.12912087912087913	8	0.016260162601626018	72	0.19889502762430938	20	0.03496503496503497	182	0.24010554089709762	T	14.87	2.663067	0.47572	0.045166	0.232558	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.98747	-4.79;-4.89;-5.11	3.87	-0.036	0.13890	.	0.265285	0.34223	N	0.004151	T	0.00552	0.0018	M	0.62723	1.935	0.09310	P	0.9999999999999913	P;B;B	0.52316	0.952;0.0;0.248	B;B;B	0.39617	0.305;0.001;0.067	T	0.07616	-1.0763	9	0.46703	T	0.11	.	7.2061	0.25907	0.0:0.2987:0.0:0.7013	rs1805123;rs2968861;rs8179016;rs1805123	801;897;557	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	T	557;801;897	ENSP00000328531:K557T;ENSP00000376695:K801T;ENSP00000262186:K897T	ENSP00000262186:K897T	K	-	2	0	KCNH2	150276467	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	2.069000	0.41481	-0.079000	0.12707	0.402000	0.26972	AAG	T|0.855;G|0.145	0.145	strong		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		G	150645534	T	G	150645534	3	3	23	1	0	0	0	0	1	0	0	0	8032	1609	56	5	809	5	KCNH2	7	150645534	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	144079	150645534	8493129	2067	18523										
ASB10	136371	hgsc.bcm.edu	37	chr7	150873331	150873331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcggctcaaatgctgcagCgacctgggctgcctcaccaa	11	15	2	0	rs104886486	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150873331C>T	ENST00000420175.2	-	5	1296	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Silent_p.S469S|ASB10_ENST00000377867.3_Silent_p.S409S|ASB10_ENST00000434669.1_Silent_p.S431S|ASB10_ENST00000275838.1_Silent_p.S386S			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	424	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGCTGCAGCGACCTGGGCT	0.667													C|||	13	0.00259585	0.0008	0.0058	5008	,	,		14914	0.0		0.008	False		,,,				2504	0.0				p.S424S		Atlas-SNP	.											.	ASB10	99	.	0			c.G1272A						PASS	.	C	,,	15,4377		0,15,2181	22	23	23	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1272,1158,1227	-5.7	0.2	7	dbSNP_132	23	119,8445		0,119,4163	no	coding-synonymous,coding-synonymous,coding-synonymous	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	,,	0,134,6344	TT,TC,CC		1.3895,0.3415,1.0343	,,	424/468,386/430,409/453	150873331	134,12822	2196	4282	6478	SO:0001819	synonymous_variant	136371	exon5			CTGCAGCGACCTG	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1272G>A	7.37:g.150873331C>T		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	141	98	0.695035	NM_001142459	A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	CCDS47750.2																																																																																			C|0.992;T|0.008	0.008	strong		0.667	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		T	150873331	C	T	150873331	2	4	23	1	0	0	0	0	0	0	0	1	1014	755	27	1		1	ASB10	7	150873331	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	227797	150873331	8265332	2068	18524										
ABCF2	10061	hgsc.bcm.edu	37	chr7	150912750	150912750	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatttcttccttctccttGatctctgggtagcacttcat	5	13	5	1	rs12538823	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150912750G>T	ENST00000287844.2	-	13	1579	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.I490I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	490	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCTCCTTGATCTCTGGGT	0.488													G|||	250	0.0499201	0.0197	0.1138	5008	,	,		20679	0.0159		0.0775	False		,,,				2504	0.0521				p.I490I		Atlas-SNP	.											.	ABCF2	54	.	0			c.C1470A						PASS	.	G	,	154,4252	105.2+/-143.6	0,154,2049	245	209	221		1470,1470	3.8	1	7	dbSNP_120	221	822,7778	191.4+/-237.6	45,732,3523	no	coding-synonymous,coding-synonymous	ABCF2	NM_005692.3,NM_007189.1	,	45,886,5572	TT,TG,GG		9.5581,3.4952,7.5042	,	490/635,490/624	150912750	976,12030	2203	4300	6503	SO:0001819	synonymous_variant	10061	exon13			CTCCTTGATCTCT	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1470C>A	7.37:g.150912750G>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	123	22	0.178862	NM_007189	O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	CCDS5923.1																																																																																			G|0.939;T|0.061	0.061	strong		0.488	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		T	150912750	G	T	150912750	2	4	23	1	0	0	0	0	0	0	0	1	66	1280	45	4		4	ABCF2	7	150912750	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39419	150912750	8225913	2069	18525										
ABCF2	10061	hgsc.bcm.edu	37	chr7	150912786	150912786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatcatgtactccaaaggTgagagatctaagtccagctg	9	9	3	2	rs7786151	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150912786T>C	ENST00000287844.2	-	13	1543	c.1434A>G	c.(1432-1434)tcA>tcG	p.S478S	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.S478S	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	478	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCCAAAGGTGAGAGATCTA	0.468													C|||	436	0.0870607	0.1573	0.1196	5008	,	,		21058	0.0159		0.0775	False		,,,				2504	0.0521				p.S478S		Atlas-SNP	.											.	ABCF2	54	.	0			c.A1434G						PASS	.	C	,	640,3766	766.9+/-413.5	46,548,1609	154	135	141		1434,1434	-10	0.3	7	dbSNP_116	141	835,7765	781.0+/-407.6	47,741,3512	no	coding-synonymous,coding-synonymous	ABCF2	NM_005692.3,NM_007189.1	,	93,1289,5121	CC,CT,TT		9.7093,14.5256,11.3409	,	478/635,478/624	150912786	1475,11531	2203	4300	6503	SO:0001819	synonymous_variant	10061	exon13			CAAAGGTGAGAGA	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1434A>G	7.37:g.150912786T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	112	17	0.151786	NM_007189	O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	CCDS5923.1																																																																																			T|0.901;C|0.099	0.099	strong		0.468	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		C	150912786	T	C	150912786	2	2	23	1	0	0	0	0	0	0	0	1	66	1683	59	2		2	ABCF2	7	150912786	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	36	150912786	8225877	2070	18526										
CHPF2	54480	hgsc.bcm.edu	37	chr7	150935430	150935430	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcccggggggctcctatagGggggagatttgaccggcagg	18	10	0	2	rs3748098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:150935430G>C	ENST00000035307.2	+	4	3495	c.1982G>C	c.(1981-1983)gGg>gCg	p.G661A	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.G653A|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	661					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTCCTATAGGGGGGAGATTT	0.701													G|||	207	0.0413339	0.0061	0.111	5008	,	,		13688	0.0149		0.0666	False		,,,				2504	0.0409				p.G661A		Atlas-SNP	.											.	CHPF2	52	.	0			c.G1982C						PASS	.	G	ALA/GLY	72,4294		1,70,2112	9	12	11		1982	3	0.2	7	dbSNP_107	11	694,7842		27,640,3601	yes	missense	CHPF2	NM_019015.1	60	28,710,5713	CC,CG,GG		8.1303,1.6491,5.9371	possibly-damaging	661/773	150935430	766,12136	2183	4268	6451	SO:0001583	missense	54480	exon4			CTATAGGGGGGAG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1982G>C	7.37:g.150935430G>C	ENSP00000035307:p.Gly661Ala	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	39	10	0.25641	NM_019015	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	107	0.04899267399267399	6	0.012195121951219513	43	0.11878453038674033	10	0.017482517482517484	48	0.0633245382585752	G	3.215	-0.160799	0.06502	0.016491	0.081303	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.24350	1.86;1.86	4.81	3.03	0.35002	.	0.177071	0.50627	N	0.000115	T	0.00109	0.0003	N	0.00347	-1.61	0.38178	D	0.939527	P;P	0.43024	0.798;0.759	B;B	0.43838	0.433;0.306	T	0.30208	-0.9986	10	0.07175	T	0.84	-25.0544	11.6931	0.51527	0.0:0.3371:0.6629:0.0	rs3748098	661;653	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	A	653;661	ENSP00000418914:G653A;ENSP00000035307:G661A	ENSP00000035307:G661A	G	+	2	0	CHPF2	150566363	1.000000	0.71417	0.185000	0.23176	0.116000	0.19942	1.235000	0.32671	0.654000	0.30846	-0.719000	0.03609	GGG	G|0.948;C|0.052	0.052	strong		0.701	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		C	150935430	G	C	150935430	3	2	23	1	0	0	0	0	1	0	0	0	3369	1232	43	4	1996	4	CHPF2	7	150935430	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	22644	150935430	8203233	2071	18527										
GALNTL5	168391	hgsc.bcm.edu	37	chr7	151680175	151680175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaccatgtccagtgtcaCgaacctcacgccacactatt	6	15	3	1	rs35682935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:151680175C>T	ENST00000392800.2	+	4	727	c.473C>T	c.(472-474)aCg>aTg	p.T158M	GALNTL5_ENST00000431418.2_Missense_Mutation_p.T158M	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	158	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TCCAGTGTCACGAACCTCACG	0.403													T|||	651	0.129992	0.0113	0.1239	5008	,	,		21285	0.1597		0.1511	False		,,,				2504	0.2423				p.T158M		Atlas-SNP	.											GALNTL5,colon,carcinoma,+1,1	GALNTL5	87	1	0			c.C473T						scavenged	.	T	MET/THR	126,4280	814.5+/-416.2	2,122,2079	157	142	147		473	2.2	0	7	dbSNP_126	147	1204,7396	763.1+/-407.6	85,1034,3181	yes	missense	GALNTL5	NM_145292.3	81	87,1156,5260	TT,TC,CC		14.0,2.8597,10.226	benign	158/444	151680175	1330,11676	2203	4300	6503	SO:0001583	missense	168391	exon4			GTGTCACGAACCT	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.473C>T	7.37:g.151680175C>T	ENSP00000376548:p.Thr158Met	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	78	19	0.24359	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	270	0.12362637362637363	6	0.012195121951219513	46	0.1270718232044199	117	0.20454545454545456	101	0.13324538258575197	T	5.856	0.342146	0.11069	0.028597	0.14	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.61158	0.13;0.13	4.65	2.2	0.27929	Glycosyl transferase, family 2 (1);	1.380810	0.04444	N	0.371357	T	0.00039	0.0001	N	0.00738	-1.235	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05801	-1.0863	9	0.34782	T	0.22	.	6.4226	0.21752	0.0:0.0819:0.2984:0.6197	rs35682935;rs62480000	158	Q7Z4T8	GLTL5_HUMAN	M	158	ENSP00000392582:T158M;ENSP00000376548:T158M	ENSP00000376548:T158M	T	+	2	0	GALNTL5	151311108	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	1.946000	0.40283	0.038000	0.15604	-1.735000	0.00691	ACG	C|0.888;T|0.112	0.112	strong		0.403	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		T	151680175	C	T	151680175	3	4	23	1	0	0	0	0	1	0	0	0	6224	536	19	1	483	1	GALNTL5	7	151680175	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	744745	151680175	7458488	2072	18528										
MLL3	58508	hgsc.bcm.edu	37	chr7	151845972	151845972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccattttttattgagcGgcctgcaatcttcaaaccca	5	13	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:151845972G>A	ENST00000262189.6	-	52	13258	c.13040C>T	c.(13039-13041)cCg>cTg	p.P4347L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P4404L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4347					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTATTGAGCGGCCTGCAATC	0.468																																					p.P4347L		Atlas-SNP	.											MLL3_ENST00000355193,rectum,carcinoma,-1,7	MLL3	1564	7	0			c.C13040T						scavenged	.						65	61	62					7																	151845972		2203	4300	6503	SO:0001583	missense	58508	exon52			TTGAGCGGCCTGC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13040C>T	7.37:g.151845972G>A	ENSP00000262189:p.Pro4347Leu	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	147	3	0.0204082	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361301	0.24684	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88896	-1.78;-1.76;-2.44	5.67	5.67	0.87782	.	0.159293	0.29212	U	0.012816	D	0.91362	0.7275	L	0.56769	1.78	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.51701	0.632;0.605;0.677	D	0.91980	0.5594	10	0.87932	D	0	.	19.7589	0.96306	0.0:0.0:1.0:0.0	.	4347;3465;4404	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	4347;4404;964	ENSP00000262189:P4347L;ENSP00000347325:P4404L;ENSP00000410411:P964L	ENSP00000262189:P4347L	P	-	2	0	MLL3	151476905	1.000000	0.71417	0.466000	0.27168	0.026000	0.11368	6.961000	0.76042	2.670000	0.90874	0.650000	0.86243	CCG	.	.	none		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151845972	G	A	151845972	3	1	23	1	0	0	0	0	1	0	0	0	9622	1116	39	1	1727	1	MLL3	7	151845972	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	165797	151845972	7292691	2073	18529										
MLL3	58508	hgsc.bcm.edu	37	chr7	151970797	151970797	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagtaaacttacatctttcAggagcttggtcaatgtgttc	9	7	3	0	rs141993954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:151970797A>T	ENST00000262189.6	-	7	1223	c.1005T>A	c.(1003-1005)ccT>ccA	p.P335P	KMT2C_ENST00000355193.2_Silent_p.P335P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	335					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TACATCTTTCAGGAGCTTGGT	0.388																																					p.P335P		Atlas-SNP	.											MLL3_ENST00000355193,NS,adenoma,0,4	MLL3	1564	4	0			c.T1005A						scavenged	.	A		49,4357	29.0+/-57.7	0,49,2154	236	218	224		1005	2.3	1	7	dbSNP_134	224	176,8424	61.0+/-122.8	0,176,4124	no	coding-synonymous	MLL3	NM_170606.2		0,225,6278	TT,TA,AA		2.0465,1.1121,1.73		335/4912	151970797	225,12781	2203	4300	6503	SO:0001819	synonymous_variant	58508	exon7			TCTTTCAGGAGCT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1005T>A	7.37:g.151970797A>T		Somatic	909	2	0.00220022		WXS	Illumina HiSeq	Phase_I	827	120	0.145103	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			A|0.985;T|0.015	0.015	strong		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151970797	A	T	151970797	2	4	23	1	0	0	0	0	0	0	0	1	9622	175	7	5		5	MLL3	7	151970797	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	124825	151970797	7167866	2074	18530										
ACTR3B	57180	hgsc.bcm.edu	37	chr7	152511706	152511706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtttgaatcatttaacgtAccaggactctacattgcagt	7	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:152511706A>G	ENST00000256001.8	+	5	542	c.408A>G	c.(406-408)gtA>gtG	p.V136V	ACTR3B_ENST00000537264.1_Silent_p.V48V|ACTR3B_ENST00000377776.3_Silent_p.V136V|ACTR3B_ENST00000397282.2_Silent_p.V48V|ACTR3B_ENST00000488782.1_3'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	136						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CATTTAACGTACCAGGACTCT	0.383																																					p.V136V		Atlas-SNP	.											ACTR3B,brain,glioma,0,13	ACTR3B	50	13	0			c.A408G						scavenged	.						149	139	142					7																	152511706		2203	4300	6503	SO:0001819	synonymous_variant	57180	exon5			TAACGTACCAGGA		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.408A>G	7.37:g.152511706A>G		Somatic	519	0	0		WXS	Illumina HiSeq	Phase_I	356	4	0.011236	NM_020445	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																			.	.	alt		0.383	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		G	152511706	A	G	152511706	2	3	23	1	0	0	0	0	0	0	0	1	213	378	14	2		2	ACTR3B	7	152511706	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	540909	152511706	6626957	2075	18531										
PAXIP1	22976	hgsc.bcm.edu	37	chr7	154760666	154760666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggctgaaggtgtaaaacCgggtgctgctgctgctgctg	17	8	0	1	rs61752011	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:154760666C>T	ENST00000404141.1	-	7	1399	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	PAXIP1_ENST00000397192.1_Silent_p.P415P|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	415	Gln-rich.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTGTAAAACCGGGtgctgct	0.562													C|||	1110	0.221645	0.0484	0.3588	5008	,	,		16758	0.2133		0.2922	False		,,,				2504	0.2945				p.P415P		Atlas-SNP	.											PAXIP1_ENST00000397192,NS,carcinoma,0,2	PAXIP1	150	2	0			c.G1245A						PASS	.	C		272,3634		8,256,1689	22	22	22		1245	-9.9	0	7	dbSNP_129	22	1762,5876		184,1394,2241	no	coding-synonymous	PAXIP1	NM_007349.3		192,1650,3930	TT,TC,CC		23.0689,6.9636,17.6195		415/1070	154760666	2034,9510	1953	3819	5772	SO:0001819	synonymous_variant	22976	exon7			TAAAACCGGGTGC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1245G>A	7.37:g.154760666C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	63	14	0.222222	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																			C|0.784;T|0.216	0.216	strong		0.562	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154760666	C	T	154760666	2	4	23	1	0	0	0	0	0	0	0	1	11487	639	23	1		1	PAXIP1	7	154760666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2248960	154760666	4377997	2076	18532										
ESYT2	57488	hgsc.bcm.edu	37	chr7	158528233	158528233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttggacaggaagccgccActgttcttcacggcaacgtc	10	13	3	0	rs3816462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158528233A>G	ENST00000251527.5	-	20	2612	c.2547T>C	c.(2545-2547)agT>agC	p.S849S	ESYT2_ENST00000435514.2_Silent_p.S284S	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	877	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAAGCCGCCACTGTTCTTCA	0.458													G|||	1770	0.353435	0.4387	0.183	5008	,	,		18629	0.6022		0.173	False		,,,				2504	0.2883				p.S849S		Atlas-SNP	.											.	ESYT2	70	.	0			c.T2547C						PASS	.			1645,2761	504.6+/-365.9	321,1003,879	160	168	165		2547	-9.9	0.3	7	dbSNP_107	165	1486,7114	281.2+/-294.9	126,1234,2940	no	coding-synonymous	ESYT2	NM_020728.2		447,2237,3819	GG,GA,AA		17.2791,37.3355,24.0735		849/894	158528233	3131,9875	2203	4300	6503	SO:0001819	synonymous_variant	57488	exon20			GCCGCCACTGTTC	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2547T>C	7.37:g.158528233A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	66	46	0.69697	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																			A|0.703;G|0.297	0.297	strong		0.458	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		G	158528233	A	G	158528233	2	3	23	1	0	0	0	0	0	0	0	1	5265	156	6	2		2	ESYT2	7	158528233	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3767567	158528233	610430	2077	18533										
ESYT2	57488	hgsc.bcm.edu	37	chr7	158534372	158534372	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgtgcagcccctgagggccGgcctcagggggctgggcctt					rs57686648	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158534372G>A	ENST00000251527.5	-	17	2156	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A	ESYT2_ENST00000435514.2_Silent_p.A132A	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	725					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCTGAGGGCCGGCCTCAGGGG	0.657													G|||	1602	0.319888	0.3563	0.183	5008	,	,		15920	0.5774		0.166	False		,,,				2504	0.2607				p.A697A		Atlas-SNP	.											ESYT2,NS,malignant_melanoma,-1,1	ESYT2	70	1	0			c.C2091T						scavenged	.			1358,3048	447.1+/-348.2	215,928,1060	34	37	36		2091	2.1	0.7	7	dbSNP_129	36	1344,7256	258.7+/-282.2	100,1144,3056	no	coding-synonymous	ESYT2	NM_020728.2		315,2072,4116	AA,AG,GG		15.6279,30.8216,20.775		697/894	158534372	2702,10304	2203	4300	6503	SO:0001819	synonymous_variant	57488	exon17			AGGGCCGGCCTCA	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2091C>T	7.37:g.158534372G>A		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	71	47	0.661972	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																			G|0.759;A|0.241	0.241	strong		0.657	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		A	158534372	G	A	158534372	2	1	23	1	0	0	0	0	0	0	0	1	5265	1103	39	1		1	ESYT2	7	158534372	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6139	158534372	604291	2078	18534	389	2								
ESYT2	57488	hgsc.bcm.edu	37	chr7	158534381	158534381	+	Silent	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgagggccggcctcaggGggctgggccttttcttccat					rs59980573	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158534381G>C	ENST00000251527.5	-	17	2147	c.2082C>G	c.(2080-2082)ccC>ccG	p.P694P	ESYT2_ENST00000435514.2_Silent_p.P129P	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	722					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CGGCCTCAGGGGGCTGGGCCT	0.637													G|||	1701	0.339657	0.4085	0.1888	5008	,	,		15915	0.5813		0.171	False		,,,				2504	0.2781				p.P694P		Atlas-SNP	.											.	ESYT2	70	.	0			c.C2082G						PASS	.			1517,2889	475.3+/-357.3	269,979,955	37	40	39		2082	-9.7	0	7	dbSNP_129	39	1395,7205	266.0+/-286.5	104,1187,3009	no	coding-synonymous	ESYT2	NM_020728.2		373,2166,3964	CC,CG,GG		16.2209,34.4303,22.3897		694/894	158534381	2912,10094	2203	4300	6503	SO:0001819	synonymous_variant	57488	exon17			CTCAGGGGGCTGG	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2082C>G	7.37:g.158534381G>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	78	53	0.679487	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																			G|0.740;C|0.260	0.260	strong		0.637	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		C	158534381	G	C	158534381	2	2	23	1	0	0	0	0	0	0	0	1	5265	1219	43	4		4	ESYT2	7	158534381	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9	158534381	604282	2079	18535	389	2								
ESYT2	57488	hgsc.bcm.edu	37	chr7	158536267	158536267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtttggacccgagttacTgagctggaagcgctggctca	14	10	1	1	rs2305473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158536267T>C	ENST00000251527.5	-	16	1893	c.1828A>G	c.(1828-1830)Agt>Ggt	p.S610G	ESYT2_ENST00000435514.2_Missense_Mutation_p.S45G	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	638	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCCGAGTTACTGAGCTGGAAG	0.597													T|||	1680	0.335463	0.3994	0.1801	5008	,	,		17999	0.5843		0.17	False		,,,				2504	0.273				p.S610G		Atlas-SNP	.											.	ESYT2	70	.	0			c.A1828G						PASS	.		GLY/SER	1507,2899	479.5+/-358.5	265,977,961	123	97	106		1828	3	0.3	7	dbSNP_100	106	1469,7131	279.0+/-293.7	125,1219,2956	yes	missense	ESYT2	NM_020728.2	56	390,2196,3917	CC,CT,TT		17.0814,34.2034,22.8817	benign	610/894	158536267	2976,10030	2203	4300	6503	SO:0001583	missense	57488	exon16			AGTTACTGAGCTG	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1828A>G	7.37:g.158536267T>C	ENSP00000251527:p.Ser610Gly	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	122	94	0.770492	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	701	0.320970695970696	187	0.3800813008130081	63	0.17403314917127072	323	0.5646853146853147	128	0.16886543535620052	T	13.55	2.270957	0.40194	0.342034	0.170814	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.24538	1.85;1.85;1.85	5.43	3.0	0.34707	C2 calcium/lipid-binding domain, CaLB (1);	0.146748	0.64402	D	0.000004	T	0.00012	0.0000	M	0.65498	2.005	0.34595	P	0.284046	P;B	0.35033	0.481;0.133	B;B	0.33454	0.164;0.065	T	0.43972	-0.9358	9	0.33940	T	0.23	-25.813	6.7082	0.23262	0.136:0.0742:0.0:0.7898	rs2305473;rs59383218;rs2305473	610;638	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	G	610;659;601;45;45;434	ENSP00000251527:S610G;ENSP00000275418:S601G;ENSP00000411488:S45G	ENSP00000251527:S610G	S	-	1	0	ESYT2	158229028	1.000000	0.71417	0.309000	0.25155	0.752000	0.42762	3.254000	0.51477	0.343000	0.23821	0.455000	0.32223	AGT	T|0.712;C|0.288	0.288	strong		0.597	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		C	158536267	T	C	158536267	3	2	23	1	0	0	0	0	1	0	0	0	5265	1580	55	3	881	3	ESYT2	7	158536267	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1886	158536267	602396	2080	18536										
ESYT2	57488	hgsc.bcm.edu	37	chr7	158536334	158536334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctgagggggaccttcagGttccccagggaacactggtg	16	10	1	1	rs2305474	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158536334G>A	ENST00000251527.5	-	16	1826	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	ESYT2_ENST00000435514.2_Silent_p.N22N	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	615	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGACCTTCAGGTTCCCCAGGG	0.542													G|||	1287	0.256989	0.2829	0.1326	5008	,	,		17626	0.5417		0.0656	False		,,,				2504	0.2137				p.N587N		Atlas-SNP	.											.	ESYT2	70	.	0			c.C1761T						PASS	.			1021,3385	377.3+/-322.4	128,765,1310	79	64	69		1761	1.3	0	7	dbSNP_100	69	552,8048	150.7+/-205.6	14,524,3762	no	coding-synonymous	ESYT2	NM_020728.2		142,1289,5072	AA,AG,GG		6.4186,23.1729,12.0944		587/894	158536334	1573,11433	2203	4300	6503	SO:0001819	synonymous_variant	57488	exon16			CTTCAGGTTCCCC	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1761C>T	7.37:g.158536334G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	67	46	0.686567	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																			G|0.846;A|0.154	0.154	strong		0.542	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		A	158536334	G	A	158536334	2	1	23	1	0	0	0	0	0	0	0	1	5265	1252	44	2		2	ESYT2	7	158536334	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	67	158536334	602329	2081	18537										
ESYT2	57488	hgsc.bcm.edu	37	chr7	158536345	158536345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccttcaggttccccagggAacactggtgctgctcgtctc	11	14	2	0	rs2305475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158536345A>G	ENST00000251527.5	-	16	1815	c.1750T>C	c.(1750-1752)Tcc>Ccc	p.S584P	ESYT2_ENST00000435514.2_Missense_Mutation_p.S19P	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	612	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCCCAGGGAACACTGGTGC	0.552													A|||	1682	0.335863	0.3994	0.1801	5008	,	,		17966	0.5843		0.17	False		,,,				2504	0.2751				p.S584P		Atlas-SNP	.											.	ESYT2	70	.	0			c.T1750C						PASS	.		PRO/SER	1486,2920	455.7+/-351.1	265,956,982	74	60	65		1750	4.1	0.2	7	dbSNP_100	65	1421,7179	248.6+/-276.2	125,1171,3004	yes	missense	ESYT2	NM_020728.2	74	390,2127,3986	GG,GA,AA		16.5233,33.7267,22.3512	probably-damaging	584/894	158536345	2907,10099	2203	4300	6503	SO:0001583	missense	57488	exon16			CCAGGGAACACTG	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1750T>C	7.37:g.158536345A>G	ENSP00000251527:p.Ser584Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	60	39	0.65	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	701	0.320970695970696	187	0.3800813008130081	63	0.17403314917127072	323	0.5646853146853147	128	0.16886543535620052	A	17.00	3.277386	0.59758	0.337267	0.165233	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.25749	1.78;1.78;1.78	5.28	4.09	0.47781	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.305484	0.36815	N	0.002395	T	0.00012	0.0000	L	0.61387	1.9	0.24527	P	0.994134	D;B	0.62365	0.991;0.089	P;B	0.56700	0.804;0.178	T	0.46830	-0.9163	9	0.66056	D	0.02	-16.699	10.6259	0.45508	0.8561:0.0:0.0:0.1439	rs2305475;rs61453775;rs2305475	584;612	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	P	584;633;575;19;19;408	ENSP00000251527:S584P;ENSP00000275418:S575P;ENSP00000411488:S19P	ENSP00000251527:S584P	S	-	1	0	ESYT2	158229106	1.000000	0.71417	0.191000	0.23289	0.556000	0.35491	3.699000	0.54778	0.812000	0.34326	0.455000	0.32223	TCC	A|0.737;C|0.000;G|0.262;T|0.000	0.262	strong		0.552	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		G	158536345	A	G	158536345	3	3	23	1	0	0	0	0	1	0	0	0	5265	246	9	2	959	2	ESYT2	7	158536345	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11	158536345	602318	2082	18538										
VIPR2	7434	hgsc.bcm.edu	37	chr7	158827326	158827326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccagggcacactgtggtcGtttgtatcccagcaactgtc	10	13	0	0	rs2071624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr7:158827326G>A	ENST00000262178.2	-	9	1010	c.825C>T	c.(823-825)aaC>aaT	p.N275N	VIPR2_ENST00000402066.1_Silent_p.N416N|VIPR2_ENST00000377633.3_Silent_p.N259N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	275					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CACTGTGGTCGTTTGTATCCC	0.483													G|||	1739	0.347244	0.2383	0.2723	5008	,	,		20595	0.5962		0.2525	False		,,,				2504	0.3885				p.N275N	Pancreas(154;1876 1931 2329 17914 20079)	Atlas-SNP	.											.	VIPR2	53	.	0			c.C825T						PASS	.	G		916,3490	348.7+/-310.1	95,726,1382	119	107	111		825	-3.8	0.9	7	dbSNP_96	111	1565,7035	293.8+/-301.5	131,1303,2866	no	coding-synonymous	VIPR2	NM_003382.4		226,2029,4248	AA,AG,GG		18.1977,20.7898,19.0758		275/439	158827326	2481,10525	2203	4300	6503	SO:0001819	synonymous_variant	7434	exon9			GTGGTCGTTTGTA	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.825C>T	7.37:g.158827326G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	112	32	0.285714	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	CCDS5950.1																																																																																			G|0.742;N|0.000	.	strong		0.483	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		A	158827326	G	A	158827326	2	1	23	1	0	0	0	0	0	0	0	1	17167	1136	40	1		1	VIPR2	7	158827326	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	290981	158827326	311337	2083	18539										
ZNF596	169270	hgsc.bcm.edu	37	chr8	196274	196274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactggagagaaaccatatgTatgtcctctatgtgggaaag	11	7	1	1	rs2072174	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:196274T>G	ENST00000398612.1	+	6	1810	c.1427T>G	c.(1426-1428)gTa>gGa	p.V476G	ZNF596_ENST00000320552.2_Missense_Mutation_p.V406G|ZNF596_ENST00000308811.4_Missense_Mutation_p.V476G	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	476			V -> G (in dbSNP:rs2072174).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAACCATATGTATGTCCTCTA	0.343													T|||	848	0.169329	0.0862	0.1844	5008	,	,		21716	0.3294		0.0855	False		,,,				2504	0.1922				p.V476G		Atlas-SNP	.											.	ZNF596	34	.	0			c.T1427G						PASS	.	T	GLY/VAL,GLY/VAL,GLY/VAL	424,3982		21,382,1800	65	70	68		1427,1427,1427	-4.3	0	8	dbSNP_96	68	768,7832		37,694,3569	yes	missense,missense,missense	ZNF596	NM_001042415.1,NM_001042416.1,NM_173539.2	109,109,109	58,1076,5369	GG,GT,TT		8.9302,9.6232,9.165	benign,benign,benign	476/505,476/505,476/505	196274	1192,11814	2203	4300	6503	SO:0001583	missense	169270	exon6			CATATGTATGTCC	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1427T>G	8.37:g.196274T>G	ENSP00000381613:p.Val476Gly	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	106	39	0.367925	NM_173539	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	395	0.18086080586080586	47	0.09552845528455285	70	0.19337016574585636	213	0.3723776223776224	65	0.08575197889182058	.	1.112	-0.657800	0.03454	0.096232	0.089302	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.18810	2.19;2.19;2.19	2.54	-4.35	0.03656	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.25426	0.745	0.80722	P	0.0	B	0.22414	0.069	B	0.24541	0.054	T	0.48375	-0.9041	8	0.56958	D	0.05	.	0.6924	0.00893	0.2214:0.2891:0.1225:0.367	rs2072174;rs52816203;rs2072174	476	Q8TC21	ZN596_HUMAN	G	476;406;476	ENSP00000310033:V476G;ENSP00000318719:V406G;ENSP00000381613:V476G	ENSP00000310033:V476G	V	+	2	0	ZNF596	186274	0.000000	0.05858	0.041000	0.18516	0.060000	0.15804	-1.577000	0.02127	-0.910000	0.03847	-0.313000	0.08912	GTA	G|0.132;N|0.001	0.132	strong		0.343	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		G	196274	T	G	196274	3	3	23	1	0	0	0	0	1	0	0	0	18023	1638	57	5	1445	5	ZNF596	8	196274	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10		196274	146167748	2084	18540										
FBXO25	26260	hgsc.bcm.edu	37	chr8	381344	381344	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtgtctttatttcagtatCttaaatagtgaagatggaga	9	3	3	3	rs28438773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:381344C>G	ENST00000276326.5	+	3	257	c.138C>G	c.(136-138)atC>atG	p.I46M	FBXO25_ENST00000350302.3_Missense_Mutation_p.I46M|FBXO25_ENST00000382824.1_5'UTR|FBXO25_ENST00000352684.2_5'UTR	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	46	Interaction with beta-actin.				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)		ATTTCAGTATCTTAAATAGTG	0.279													C|||	854	0.170527	0.1044	0.1412	5008	,	,		16678	0.2927		0.1392	False		,,,				2504	0.1871				p.I46M		Atlas-SNP	.											.	FBXO25	25	.	0			c.C138G						PASS	.	C	,MET/ILE,MET/ILE	484,3890		25,434,1728	31	36	34		,138,138	2.3	1	8	dbSNP_125	34	1289,7225		97,1095,3065	no	utr-5,missense,missense	FBXO25	NM_012173.3,NM_183420.1,NM_183421.1	,10,10	122,1529,4793	GG,GC,CC		15.1398,11.0654,13.757	,benign,benign	,46/359,46/368	381344	1773,11115	2187	4257	6444	SO:0001583	missense	26260	exon3			CAGTATCTTAAAT	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.138C>G	8.37:g.381344C>G	ENSP00000276326:p.Ile46Met	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	140	56	0.4	NM_183420	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	CCDS5953.1	334	0.15293040293040294	52	0.10569105691056911	44	0.12154696132596685	134	0.23426573426573427	104	0.13720316622691292	.	9.568	1.120164	0.20877	0.110654	0.151398	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	T;T;T	0.27890	1.64;1.64;1.64	4.22	2.29	0.28610	.	0.503034	0.22867	N	0.054666	T	0.00012	0.0000	N	0.19112	0.55	0.09310	P	0.9999999981248	B;B	0.17268	0.021;0.021	B;B	0.17722	0.019;0.019	T	0.28396	-1.0045	9	0.36615	T	0.2	-39.8882	3.344	0.07128	0.1757:0.5496:0.1714:0.1034	rs28438773;rs59135522	46;46	Q8TCJ0-2;Q8TCJ0	.;FBX25_HUMAN	M	46	ENSP00000428872:I46M;ENSP00000342077:I46M;ENSP00000276326:I46M	ENSP00000276326:I46M	I	+	3	3	FBXO25	371344	0.988000	0.35896	1.000000	0.80357	0.898000	0.52572	0.269000	0.18589	0.863000	0.35553	0.449000	0.29647	ATC	C|0.860;G|0.140	0.140	strong		0.279	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		G	381344	C	G	381344	3	3	23	1	0	0	0	0	1	0	0	0	5736	903	32	4	144	4	FBXO25	8	381344	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	185070	381344	145982678	2085	18541										
ARHGEF10	9639	hgsc.bcm.edu	37	chr8	1817367	1817367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtttattgcagatccagaGgaagcaatttacgatgacgt	10	8	0	3	rs7003969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:1817367G>A	ENST00000398564.1	+	7	705	c.705G>A	c.(703-705)gaG>gaA	p.E235E	ARHGEF10_ENST00000520359.1_Silent_p.E211E|ARHGEF10_ENST00000262112.6_Silent_p.E235E|ARHGEF10_ENST00000349830.3_Silent_p.E210E|ARHGEF10_ENST00000518288.1_Silent_p.E235E|ARHGEF10_ENST00000398560.1_Silent_p.E235E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	235					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGATCCAGAGGAAGCAATTT	0.428													A|||	1181	0.235823	0.0983	0.2061	5008	,	,		18247	0.5179		0.2157	False		,,,				2504	0.1728				p.E210E		Atlas-SNP	.											.	ARHGEF10	255	.	0			c.G630A						PASS	.	A		509,3897	778.8+/-414.3	28,453,1722	117	114	115		630	2	1	8	dbSNP_116	115	2033,6567	720.2+/-406.3	255,1523,2522	no	coding-synonymous	ARHGEF10	NM_014629.2		283,1976,4244	AA,AG,GG		23.6395,11.5524,19.5448		210/1345	1817367	2542,10464	2203	4300	6503	SO:0001819	synonymous_variant	9639	exon7			TCCAGAGGAAGCA	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.705G>A	8.37:g.1817367G>A		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	279	85	0.304659	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																				G|0.777;A|0.223	0.223	strong		0.428	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1817367	G	A	1817367	2	1	23	1	0	0	0	0	0	0	0	1	894	991	35	2		2	ARHGEF10	8	1817367	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1436023	1817367	144546655	2086	18542										
ARHGEF10	9639	hgsc.bcm.edu	37	chr8	1857548	1857548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgtggacgccatcgagtaTggcagcagcgcaggcacggg	16	11	0	0	rs2294038	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:1857548T>C	ENST00000398564.1	+	18	2130	c.2130T>C	c.(2128-2130)taT>taC	p.Y710Y	ARHGEF10_ENST00000520359.1_Silent_p.Y647Y|ARHGEF10_ENST00000262112.6_Silent_p.Y710Y|ARHGEF10_ENST00000349830.3_Silent_p.Y685Y|ARHGEF10_ENST00000518288.1_Silent_p.Y709Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	710					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCATCGAGTATGGCAGCAGCG	0.602													T|||	786	0.156949	0.115	0.2248	5008	,	,		18080	0.1746		0.171	False		,,,				2504	0.1329				p.Y685Y		Atlas-SNP	.											.	ARHGEF10	255	.	0			c.T2055C						PASS	.	T		572,3834	254.0+/-259.7	35,502,1666	126	113	117		2055	-3.9	0	8	dbSNP_100	117	1328,7272	260.6+/-283.4	105,1118,3077	no	coding-synonymous	ARHGEF10	NM_014629.2		140,1620,4743	CC,CT,TT		15.4419,12.9823,14.6086		685/1345	1857548	1900,11106	2203	4300	6503	SO:0001819	synonymous_variant	9639	exon18			CGAGTATGGCAGC	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2130T>C	8.37:g.1857548T>C		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	136	47	0.345588	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																				T|0.853;C|0.147	0.147	strong		0.602	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				C	1857548	T	C	1857548	2	2	23	1	0	0	0	0	0	0	0	1	894	1471	51	2		2	ARHGEF10	8	1857548	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	40181	1857548	144506474	2087	18543										
ARHGEF10	9639	hgsc.bcm.edu	37	chr8	1877480	1877480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttataaaagcagtcaaggcTccaagaaagtgagacttcag	9	7	2	2	rs17683288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:1877480T>G	ENST00000398564.1	+	25	3025	c.3025T>G	c.(3025-3027)Tcc>Gcc	p.S1009A	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S946A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S980A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S984A|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S1008A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1009					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGTCAAGGCTCCAAGAAAGT	0.433													T|||	153	0.0305511	0.0038	0.0389	5008	,	,		15810	0.001		0.0736	False		,,,				2504	0.047				p.S984A		Atlas-SNP	.											ARHGEF10_ENST00000398564,NS,carcinoma,0,2	ARHGEF10	255	2	0			c.T2950G						PASS	.	T	ALA/SER	66,4340	61.7+/-98.7	1,64,2138	87	87	87		2950	2.7	1	8	dbSNP_123	87	611,7989	159.4+/-212.7	28,555,3717	yes	missense	ARHGEF10	NM_014629.2	99	29,619,5855	GG,GT,TT		7.1047,1.498,5.2053	possibly-damaging	984/1345	1877480	677,12329	2203	4300	6503	SO:0001583	missense	9639	exon25			CAAGGCTCCAAGA	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3025T>G	8.37:g.1877480T>G	ENSP00000381571:p.Ser1009Ala	Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	266	160	0.601504	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		76	0.0347985347985348	2	0.0040650406504065045	17	0.04696132596685083	0	0.0	57	0.07519788918205805	T	3.915	-0.019235	0.07634	0.01498	0.071047	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.05;-0.05	5.08	2.66	0.31614	.	0.308232	0.36200	N	0.002727	T	0.05731	0.0150	L	0.50919	1.6	0.09310	P	0.999999999999999	B;B	0.21688	0.059;0.01	B;B	0.22753	0.041;0.011	T	0.34428	-0.9829	9	0.07813	T	0.8	-13.8843	12.2936	0.54833	0.0:0.0:0.2956:0.7044	rs17683288;rs56496515;rs57650527;rs17683288	946;984	O15013-7;O15013-5	.;.	A	984;946;1008;1009;980;628	ENSP00000340297:S984A;ENSP00000427909:S946A;ENSP00000431012:S1008A;ENSP00000381571:S1009A;ENSP00000262112:S980A;ENSP00000427768:S628A	ENSP00000262112:S980A	S	+	1	0	ARHGEF10	1864887	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.497000	0.53295	0.336000	0.23639	-0.258000	0.10820	TCC	T|0.954;G|0.046	0.046	strong		0.433	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				G	1877480	T	G	1877480	3	3	23	1	0	0	0	0	1	0	0	0	894	1551	54	5	3044	5	ARHGEF10	8	1877480	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	19932	1877480	144486542	2088	18544										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2046700	2046700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaataggtggacggcttgaCggaaggctcactctacgagt	14	8	2	2	rs2294066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:2046700C>T	ENST00000262113.4	+	19	2468	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T201M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	776	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs2294066). {ECO:0000269|PubMed:15489334}.		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GACGGCTTGACGGAAGGCTCA	0.517													C|||	831	0.165935	0.1195	0.1945	5008	,	,		16148	0.2629		0.166	False		,,,				2504	0.1084				p.T776M		Atlas-SNP	.											.	MYOM2	251	.	0			c.C2327T						PASS	.	C	MET/THR	555,3851	244.7+/-253.9	34,487,1682	41	39	40		2327	3.7	0.6	8	dbSNP_100	40	1240,7360	245.3+/-274.2	99,1042,3159	yes	missense	MYOM2	NM_003970.2	81	133,1529,4841	TT,TC,CC		14.4186,12.5965,13.8013	probably-damaging	776/1466	2046700	1795,11211	2203	4300	6503	SO:0001583	missense	9172	exon19			GCTTGACGGAAGG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2327C>T	8.37:g.2046700C>T	ENSP00000262113:p.Thr776Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	25	0.280899	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	413	0.1891025641025641	50	0.1016260162601626	85	0.23480662983425415	153	0.2674825174825175	125	0.16490765171503957	C	10.81	1.456847	0.26161	0.125965	0.144186	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.58652	0.32;0.32	5.5	3.72	0.42706	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.289558	0.38111	N	0.001820	T	0.00012	0.0000	M	0.76002	2.32	0.34133	P	0.33448100000000003	D	0.76494	0.999	D	0.70016	0.967	T	0.02491	-1.1151	9	0.59425	D	0.04	.	11.1141	0.48249	0.0:0.7936:0.0:0.2064	rs2294066;rs17719462;rs17857420;rs60334248;rs2294066	776	P54296	MYOM2_HUMAN	M	776;201	ENSP00000262113:T776M;ENSP00000428396:T201M	ENSP00000262113:T776M	T	+	2	0	MYOM2	2034107	0.005000	0.15991	0.578000	0.28575	0.016000	0.09150	0.029000	0.13666	0.700000	0.31782	-0.291000	0.09656	ACG	C|0.846;N|0.000	.	strong		0.517	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2046700	C	T	2046700	3	4	23	1	0	0	0	0	1	0	0	0	10092	536	19	1	2397	1	MYOM2	8	2046700	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	169220	2046700	144317322	2089	18545										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2054066	2054066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgctggtgtcgatgaacaAggcaacatctatctgggctt	12	8	2	1	rs17684416	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:2054066A>G	ENST00000262113.4	+	22	2910	c.2769A>G	c.(2767-2769)caA>caG	p.Q923Q	MYOM2_ENST00000523438.1_Silent_p.Q348Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	923	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGATGAACAAGGCAACATCT	0.483													A|||	871	0.173922	0.0855	0.2046	5008	,	,		17443	0.2857		0.1799	False		,,,				2504	0.1503				p.Q923Q		Atlas-SNP	.											.	MYOM2	251	.	0			c.A2769G						PASS	.	A		415,3991	203.8+/-226.2	21,373,1809	149	134	139		2769	-10.1	0	8	dbSNP_123	139	1368,7232	266.0+/-286.5	127,1114,3059	no	coding-synonymous	MYOM2	NM_003970.2		148,1487,4868	GG,GA,AA		15.907,9.419,13.7091		923/1466	2054066	1783,11223	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon22			TGAACAAGGCAAC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2769A>G	8.37:g.2054066A>G		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	242	87	0.359504	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			A|0.843;G|0.157	0.157	strong		0.483	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2054066	A	G	2054066	2	3	23	1	0	0	0	0	0	0	0	1	10092	69	3	3		3	MYOM2	8	2054066	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7366	2054066	144309956	2090	18546										
MYOM2	9172	hgsc.bcm.edu	37	chr8	2092803	2092803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggagaagatcgacgtgacAgtgagcgtgtacaaacacgg	16	7	0	4	rs1063523	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:2092803A>G	ENST00000262113.4	+	37	4437	c.4296A>G	c.(4294-4296)acA>acG	p.T1432T	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.T857T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1432	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGACGTGACAGTGAGCGTGT	0.587													G|||	1206	0.240815	0.2481	0.2435	5008	,	,		13751	0.2292		0.2883	False		,,,				2504	0.1922				p.T1432T		Atlas-SNP	.											.	MYOM2	251	.	0			c.A4296G						PASS	.	G		1137,3269	716.8+/-408.6	130,877,1196	108	92	98		4296	-9.3	0.1	8	dbSNP_86	98	2274,6326	707.3+/-405.6	301,1672,2327	no	coding-synonymous	MYOM2	NM_003970.2		431,2549,3523	GG,GA,AA		26.4419,25.8057,26.2264		1432/1466	2092803	3411,9595	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon37			CGTGACAGTGAGC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4296A>G	8.37:g.2092803A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	79	29	0.367089	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			A|0.741;G|0.259	0.259	strong		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2092803	A	G	2092803	2	3	23	1	0	0	0	0	0	0	0	1	10092	175	7	3		3	MYOM2	8	2092803	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	38737	2092803	144271219	2091	18547										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2820043	2820043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcttggcagactcttctGgaggatcccacgagtataaa	10	10	3	1	rs4876056	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:2820043G>T	ENST00000520002.1	-	62	10131	c.9576C>A	c.(9574-9576)tcC>tcA	p.S3192S	CSMD1_ENST00000400186.3_Silent_p.S3015S|CSMD1_ENST00000602557.1_Silent_p.S3192S|CSMD1_ENST00000537824.1_Silent_p.S3191S|CSMD1_ENST00000542608.1_Silent_p.S3014S|CSMD1_ENST00000602723.1_Silent_p.S3015S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3192	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACTCTTCTGGAGGATCCCA	0.498													T|||	638	0.127396	0.3336	0.0836	5008	,	,		16851	0.1081		0.0229	False		,,,				2504	0.0072				p.S3191S		Atlas-SNP	.											CSMD1_ENST00000318252,NS,carcinoma,-1,1	CSMD1	1469	1	0			c.C9573A						scavenged	.	T		1080,2772		146,788,992	65	64	64		9573	-11.2	0	8	dbSNP_111	64	236,8022		1,234,3894	no	coding-synonymous	CSMD1	NM_033225.5		147,1022,4886	TT,TG,GG		2.8578,28.0374,10.8671		3191/3565	2820043	1316,10794	1926	4129	6055	SO:0001819	synonymous_variant	64478	exon61			TCTTCTGGAGGAT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9576C>A	8.37:g.2820043G>T		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	161	52	0.322981	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		266	0.12179487179487179	169	0.3434959349593496	24	0.06629834254143646	60	0.1048951048951049	13	0.017150395778364115	T	0.437	-0.900256	0.02472	0.280374	0.028578	ENSG00000183117	ENST00000335551	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22903	P	0.99858238	.	.	.	.	.	.	T	0.24584	-1.0156	3	.	.	.	.	11.6209	0.51117	0.0:0.2273:0.1926:0.5801	rs4876056;rs4876056	.	.	.	K	2609	.	.	Q	-	1	0	CSMD1	2807450	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-2.681000	0.00837	-4.931000	0.00027	-0.256000	0.11100	CAG	G|0.871;T|0.129	0.129	strong		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2820043	G	T	2820043	2	4	23	1	0	0	0	0	0	0	0	1	3944	1335	47	4		4	CSMD1	8	2820043	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	727240	2820043	143543979	2092	18548										
CSMD1	64478	hgsc.bcm.edu	37	chr8	3165949	3165949	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtacagaactacagtgtcGgtaaagtggccttcatcacg	10	10	2	1	rs141170475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:3165949G>C	ENST00000520002.1	-	25	4266	c.3711C>G	c.(3709-3711)acC>acG	p.T1237T	CSMD1_ENST00000400186.3_Silent_p.T1237T|CSMD1_ENST00000602557.1_Silent_p.T1237T|CSMD1_ENST00000537824.1_Silent_p.T1236T|CSMD1_ENST00000542608.1_Silent_p.T1236T|CSMD1_ENST00000602723.1_Silent_p.T1237T|CSMD1_ENST00000539096.1_Silent_p.T1236T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1237	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTACAGTGTCGGTAAAGTGGC	0.512													G|||	9	0.00179712	0.0008	0.0029	5008	,	,		19169	0.0		0.006	False		,,,				2504	0.0				p.T1236T		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C3708G						PASS	.	G		3,4029		0,3,2013	117	109	111		3708	-10.8	0	8	dbSNP_134	111	60,8296		0,60,4118	no	coding-synonymous	CSMD1	NM_033225.5		0,63,6131	CC,CG,GG		0.718,0.0744,0.5086		1236/3565	3165949	63,12325	2016	4178	6194	SO:0001819	synonymous_variant	64478	exon24			AGTGTCGGTAAAG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3711C>G	8.37:g.3165949G>C		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	288	104	0.361111	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		6	0.0027472527472527475	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	G	0.021	-1.429808	0.01117	7.44E-4	0.00718	ENSG00000183117	ENST00000335551	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54873	-0.8228	4	.	.	.	.	3.0972	0.06313	0.1074:0.4238:0.1731:0.2956	.	.	.	.	G	717	.	.	R	-	1	2	CSMD1	3153356	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-2.190000	0.01247	-4.494000	0.00046	-2.717000	0.00132	CGA	A|0.000;C|0.004;G|0.996	0.004	strong		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	3165949	G	C	3165949	2	2	23	1	0	0	0	0	0	0	0	1	3944	1103	39	4		4	CSMD1	8	3165949	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	345906	3165949	143198073	2093	18549										
CSMD1	64478	hgsc.bcm.edu	37	chr8	3224561	3224561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaccaacatacctgaaaaTgtgatattgaagccctcgta	7	9	0	4	rs4875703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:3224561T>C	ENST00000520002.1	-	21	3666	c.3111A>G	c.(3109-3111)acA>acG	p.T1037T	CSMD1_ENST00000400186.3_Silent_p.T1037T|CSMD1_ENST00000602557.1_Silent_p.T1037T|CSMD1_ENST00000537824.1_Silent_p.T1036T|CSMD1_ENST00000542608.1_Silent_p.T1036T|CSMD1_ENST00000602723.1_Silent_p.T1037T|CSMD1_ENST00000539096.1_Silent_p.T1036T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1037	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTGAAAATGTGATATTGA	0.438													C|||	1428	0.285144	0.326	0.3775	5008	,	,		19000	0.3284		0.2505	False		,,,				2504	0.1554				p.T1036T		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A3108G						PASS	.	C		1128,2830		161,806,1012	54	59	58		3108	-10.2	0	8	dbSNP_111	58	1976,6340		226,1524,2408	no	coding-synonymous	CSMD1	NM_033225.5		387,2330,3420	CC,CT,TT		23.7614,28.4992,25.2892		1036/3565	3224561	3104,9170	1979	4158	6137	SO:0001819	synonymous_variant	64478	exon20			TGAAAATGTGATA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3111A>G	8.37:g.3224561T>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	171	99	0.578947	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		685	0.31364468864468864	170	0.34552845528455284	118	0.3259668508287293	211	0.3688811188811189	186	0.24538258575197888	C	0.133	-1.111616	0.01813	0.284992	0.237614	ENSG00000183117	ENST00000335551	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999945	.	.	.	.	.	.	T	0.35549	-0.9784	3	.	.	.	.	11.8873	0.52610	0.0:0.2765:0.4646:0.259	rs4875703;rs57705395;rs4875703	.	.	.	V	517	.	.	I	-	1	0	CSMD1	3211968	0.002000	0.14202	0.025000	0.17156	0.066000	0.16364	-1.405000	0.02492	-5.492000	0.00013	-2.764000	0.00121	ATT	T|0.701;C|0.299	0.299	strong		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	3224561	T	C	3224561	2	2	23	1	0	0	0	0	0	0	0	1	3944	1451	51	2		2	CSMD1	8	3224561	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	58612	3224561	143139461	2094	18550										
MCPH1	79648	hgsc.bcm.edu	37	chr8	6479178	6479178	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagcggaaagaagaaagcCacagtcaagtatctgtctga	10	8	3	3	rs2912016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:6479178C>A	ENST00000344683.5	+	13	2494	c.2418C>A	c.(2416-2418)gcC>gcA	p.A806A	CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	806	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGAAGAAAGCCACAGTCAAGT	0.577													A|||	1972	0.39377	0.4304	0.2925	5008	,	,		18838	0.4375		0.3618	False		,,,				2504	0.4039				p.A806A	Colon(95;1448 1467 8277 34473 35819)	Atlas-SNP	.											.	MCPH1	65	.	0			c.C2418A						PASS	.	A		1695,2457		376,943,757	70	82	78		2418	-6.4	0	8	dbSNP_101	78	2862,5554		475,1912,1821	no	coding-synonymous	MCPH1	NM_024596.3		851,2855,2578	AA,AC,CC		34.0067,40.8237,36.2588		806/836	6479178	4557,8011	2076	4208	6284	SO:0001819	synonymous_variant	79648	exon13			GAAAGCCACAGTC	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2418C>A	8.37:g.6479178C>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	121	68	0.561983	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	CCDS43689.1																																																																																			C|0.615;A|0.385	0.385	strong		0.577	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		A	6479178	C	A	6479178	2	1	23	1	0	0	0	0	0	0	0	1	9398	581	21	4		4	MCPH1	8	6479178	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3254617	6479178	139884844	2095	18551										
MCPH1	79648	hgsc.bcm.edu	37	chr8	6500544	6500544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagcacaaggtctgtgccCctgaaaactacctattgtca	7	14	2	1	rs1057091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:6500544C>T	ENST00000344683.5	+	14	2558	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000525186.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	828	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.		P -> S (in dbSNP:rs1057091). {ECO:0000269|PubMed:18204051}.		cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGTCTGTGCCCCTGAAAACTA	0.448													T|||	1220	0.24361	0.174	0.183	5008	,	,		18018	0.2103		0.2972	False		,,,				2504	0.3599				p.P828S	Colon(95;1448 1467 8277 34473 35819)	Atlas-SNP	.											.	MCPH1	65	.	0			c.C2482T						PASS	.	T	SER/PRO	730,3194		68,594,1300	107	102	104		2482	-1.4	0	8	dbSNP_86	104	2508,5792		390,1728,2032	yes	missense	MCPH1	NM_024596.3	74	458,2322,3332	TT,TC,CC		30.2169,18.6035,26.4889	benign	828/836	6500544	3238,8986	1962	4150	6112	SO:0001583	missense	79648	exon14			TGTGCCCCTGAAA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2482C>T	8.37:g.6500544C>T	ENSP00000342924:p.Pro828Ser	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	183	47	0.256831	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	492	0.22527472527472528	77	0.1565040650406504	81	0.22375690607734808	112	0.1958041958041958	222	0.2928759894459103	T	0.007	-1.987825	0.00443	0.186035	0.302169	ENSG00000147316	ENST00000344683	D	0.89681	-2.55	4.82	-1.42	0.08913	BRCT (2);	0.437392	0.22979	N	0.053330	T	0.00012	0.0000	N	0.02736	-0.51	0.54753	P	1.0999999999983245E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	9	0.38643	T	0.18	-0.9738	1.0083	0.01492	0.1455:0.178:0.2993:0.3772	rs1057091;rs3197703;rs52793579;rs57739761;rs1057091	828	Q8NEM0	MCPH1_HUMAN	S	828	ENSP00000342924:P828S	ENSP00000342924:P828S	P	+	1	0	MCPH1	6487952	0.017000	0.18338	0.043000	0.18650	0.233000	0.25261	0.291000	0.18994	-0.340000	0.08388	-1.776000	0.00657	CCT	C|0.750;T|0.250	0.250	strong		0.448	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		T	6500544	C	T	6500544	3	4	23	1	0	0	0	0	1	0	0	0	9398	623	22	2	2544	2	MCPH1	8	6500544	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21366	6500544	139863478	2096	18552										
DEFA1	1668	hgsc.bcm.edu	37	chr8	6873603	6873603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtattctgcaatagcagTccatgtttttccttgagcct	8	10	1	1	rs145076681		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																					p.D65A		Atlas-SNP	.											DEFA3,NS,carcinoma,0,1	DEFA3	7	1	1	Substitution - Missense(1)	prostate(1)	c.A194C						scavenged	.						156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668	exon3			TAGCAGTCCATGT	M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala	Somatic	1031	19	0.0184287		WXS	Illumina HiSeq	Phase_I	328	31	0.0945122	NM_005217	P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC	T|0.167;G|0.833	0.833	strong		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	23	1	0	0	0	0	1	0	0	0	4388	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	373059	6873603	139490419	2097	18553										
DEFB104A	140596	hgsc.bcm.edu	37	chr8	7694034	7694034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttgtgctgctattagccAtttctcttctactctatcaa	5	11	4	0	rs202183310		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:7694034A>G	ENST00000314265.2	+	1	42	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_080389.2	NP_525128.2	Q8WTQ1	D104A_HUMAN	defensin, beta 104A	10			I -> V (in dbSNP:rs2680507). {ECO:0000269|PubMed:11481241, ECO:0000269|PubMed:15489334}.		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.I10V(1)		liver(2)|pancreas(1)|skin(1)	4				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GCTATTAGCCATTTCTCTTCT	0.502																																					p.I10V		Atlas-SNP	.											DEFB104A,NS,other,0,1	.	.	1	1	Substitution - Missense(1)	pancreas(1)	c.A28G						scavenged	.						10	11	11					8																	7694034		2052	4155	6207	SO:0001583	missense	503618	exon1			TTAGCCATTTCTC	AJ314835	CCDS34834.1	8p23.1	2011-03-29	2005-02-25	2005-02-25	ENSG00000176782	ENSG00000176782		"Defensins, beta"	18115	protein-coding gene	gene with protein product			"defensin, beta 104"	DEFB104			Standard	NM_080389		Approved	DEFB4, DEFB-4		Q8WTQ1	OTTHUMG00000150014	ENST00000314265.2:c.28A>G	8.37:g.7694034A>G	ENSP00000320813:p.Ile10Val	Somatic	2087	5	0.00239578		WXS	Illumina HiSeq	Phase_I	1448	369	0.254834	NM_001040702	Q496I2|Q496I3|Q496I4	Missense_Mutation	SNP	ENST00000314265.2	37	CCDS34834.1	621	0.28434065934065933	42	0.08536585365853659	128	0.35359116022099446	206	0.36013986013986016	245	0.3232189973614776	A	0.670	-0.802337	0.02841	.	.	ENSG00000176782	ENST00000314265	T	0.14144	2.53	1.69	-1.4	0.08968	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.47761	-0.9092	5	0.32370	T	0.25	.	1.7865	0.03043	0.5325:0.0:0.1902:0.2773	.	.	.	.	V	10	ENSP00000320813:I10V	ENSP00000320813:I10V	I	+	1	0	DEFB104A	7731444	0.000000	0.05858	0.011000	0.14972	0.076000	0.17211	-0.448000	0.06820	-0.348000	0.08286	-0.641000	0.03968	ATT	A|0.250;G|0.750	0.750	weak		0.502	DEFB104A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315761.1	NM_080389		G	7694034	A	G	7694034	3	3	23	1	0	0	0	0	1	0	0	0	4395	217	8	2	257	2	DEFB104A	8	7694034	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	820431	7694034	138669988	2098	18554										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10464885	10464885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaccttgagtttctccttcTgactctggctgggcctcccc	8	16	4	2	rs56382513	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10464885T>C	ENST00000382483.3	-	4	6946	c.6723A>G	c.(6721-6723)tcA>tcG	p.S2241S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2321	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCTCCTTCTGACTCTGGCT	0.597													t|||	3260	0.650958	0.475	0.6686	5008	,	,		17857	0.9792		0.5089	False		,,,				2504	0.684				p.S2241S		Atlas-SNP	.											RP1L1,NS,carcinoma,0,2	RP1L1	453	2	0			c.A6723G						scavenged	.	C		1954,1902		496,962,470	97	101	99		6723	-6.9	0	8	dbSNP_129	99	4377,3879		1167,2043,918	no	coding-synonymous	RP1L1	NM_178857.5		1663,3005,1388	CC,CT,TT		46.984,49.3257,47.7295		2241/2401	10464885	6331,5781	1928	4128	6056	SO:0001819	synonymous_variant	94137	exon4			TCCTTCTGACTCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6723A>G	8.37:g.10464885T>C		Somatic	79	2	0.0253165		WXS	Illumina HiSeq	Phase_I	115	87	0.756522	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			T|0.404;C|0.596	0.596	strong		0.597	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10464885	T	C	10464885	2	2	23	1	0	0	0	0	0	0	0	1	13533	1567	55	3		3	RP1L1	8	10464885	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2770851	10464885	135899137	2099	18555										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10465748	10465748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacttctgactctggctgggTctgcccttctgcctcctggg	11	14	4	1	rs11783478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10465748T>C	ENST00000382483.3	-	4	6083	c.5860A>G	c.(5860-5862)Acc>Gcc	p.T1954A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2034	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGCTGGGTCTGCCCTTCT	0.592													C|||	3252	0.649361	0.4728	0.6657	5008	,	,		17892	0.9772		0.5089	False		,,,				2504	0.683				p.T1954A		Atlas-SNP	.											RP1L1,NS,carcinoma,0,1	RP1L1	453	1	0			c.A5860G						PASS	.	C	ALA/THR	2073,2053		537,999,527	120	143	135		5860	-2.3	0	8	dbSNP_120	135	4468,3940		1204,2060,940	yes	missense	RP1L1	NM_178857.5	58	1741,3059,1467	CC,CT,TT		46.8601,49.7576,47.8139	benign	1954/2401	10465748	6541,5993	2063	4204	6267	SO:0001583	missense	94137	exon4			GCTGGGTCTGCCC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5860A>G	8.37:g.10465748T>C	ENSP00000371923:p.Thr1954Ala	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	101	59	0.584158	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	1397	0.6396520146520146	216	0.43902439024390244	234	0.6464088397790055	558	0.9755244755244755	389	0.5131926121372031	C	0.111	-1.139015	0.01742	0.502424	0.531399	ENSG00000183638	ENST00000382483	T	0.04234	3.67	1.24	-2.32	0.06745	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	8	0.02654	T	1	.	3.7577	0.08592	0.0:0.3311:0.1964:0.4725	rs11783478;rs52832454;rs11783478	1954	A6NKC6	.	A	1954	ENSP00000371923:T1954A	ENSP00000371923:T1954A	T	-	1	0	RP1L1	10503158	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.487000	0.00977	-1.392000	0.02082	-0.684000	0.03749	ACC	T|0.395;C|0.605	0.605	strong		0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10465748	T	C	10465748	3	2	23	1	0	0	0	0	1	0	0	0	13533	1667	58	2	1346	2	RP1L1	8	10465748	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	863	10465748	135898274	2100	18556										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10465942	10465942	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcctctggggtctctacaTcttctgactctggctgggcc	11	14	5	1	rs28446662	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10465942T>A	ENST00000382483.3	-	4	5889	c.5666A>T	c.(5665-5667)gAt>gTt	p.D1889V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1969					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTCTCTACATCTTCTGACTC	0.602													t|||	1189	0.23742	0.1679	0.3386	5008	,	,		16217	0.3929		0.2147	False		,,,				2504	0.1227				p.D1889V		Atlas-SNP	.											.	RP1L1	453	.	0			c.A5666T						PASS	.	T	VAL/ASP	726,3178		68,590,1294	158	174	169		5666	-2.8	0	8	dbSNP_125	169	1669,6635		168,1333,2651	no	missense	RP1L1	NM_178857.5	152	236,1923,3945	AA,AT,TT		20.0987,18.5963,19.6183	benign	1889/2401	10465942	2395,9813	1952	4152	6104	SO:0001583	missense	94137	exon4			TCTACATCTTCTG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5666A>T	8.37:g.10465942T>A	ENSP00000371923:p.Asp1889Val	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	129	77	0.596899	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	566	0.2591575091575092	62	0.12601626016260162	102	0.281767955801105	238	0.4160839160839161	164	0.21635883905013192	t	3.686	-0.064495	0.07273	0.185963	0.200987	ENSG00000183638	ENST00000382483	T	0.07688	3.17	1.4	-2.8	0.05823	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.12013	0.005	B	0.11329	0.006	T	0.46105	-0.9215	8	0.30078	T	0.28	.	4.5421	0.12064	0.0:0.1945:0.191:0.6145	rs28446662	1889	A6NKC6	.	V	1889	ENSP00000371923:D1889V	ENSP00000371923:D1889V	D	-	2	0	RP1L1	10503352	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.203000	0.03019	-0.837000	0.04223	-0.375000	0.07067	GAT	T|0.764;A|0.236	0.236	strong		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465942	T	A	10465942	3	1	23	1	0	0	0	0	1	0	0	0	13533	1435	50	5	1540	5	RP1L1	8	10465942	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	194	10465942	135898080	2101	18557										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467124	10467124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctgcagccccctgggtgGgttgggcctgcgtgtgctct	15	13	2	0	rs4841399	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10467124G>C	ENST00000382483.3	-	4	4707	c.4484C>G	c.(4483-4485)cCc>cGc	p.P1495R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1575					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTGGGTGGGTTGGGCCTG	0.642													G|||	1411	0.281749	0.2511	0.353	5008	,	,		16131	0.3938		0.2555	False		,,,				2504	0.184				p.P1495R		Atlas-SNP	.											RP1L1,NS,carcinoma,0,1	RP1L1	453	1	0			c.C4484G						PASS	.	G	ARG/PRO	982,2946		128,726,1110	33	38	36		4484	-5.1	0	8	dbSNP_111	36	2003,6307		241,1521,2393	yes	missense	RP1L1	NM_178857.5	103	369,2247,3503	CC,CG,GG		24.1035,25.0,24.3912	possibly-damaging	1495/2401	10467124	2985,9253	1964	4155	6119	SO:0001583	missense	94137	exon4			TGGGTGGGTTGGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4484C>G	8.37:g.10467124G>C	ENSP00000371923:p.Pro1495Arg	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	54	30	0.555556	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	643	0.2944139194139194	100	0.2032520325203252	107	0.2955801104972376	242	0.4230769230769231	194	0.2559366754617414	G	9.308	1.054817	0.19907	0.25	0.241035	ENSG00000183638	ENST00000382483	T	0.04156	3.69	4.69	-5.06	0.02946	.	2.449500	0.02245	N	0.066177	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.45126	0.851	B	0.39935	0.314	T	0.37549	-0.9701	9	0.56958	D	0.05	3.2668	1.9854	0.03435	0.3306:0.2097:0.3541:0.1056	rs4841399	1495	A6NKC6	.	R	1495	ENSP00000371923:P1495R	ENSP00000371923:P1495R	P	-	2	0	RP1L1	10504534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.416000	0.02467	-1.450000	0.01936	-0.339000	0.08088	CCC	G|0.722;C|0.278	0.278	strong		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10467124	G	C	10467124	3	2	23	1	0	0	0	0	1	0	0	0	13533	1232	43	4	2722	4	RP1L1	8	10467124	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1182	10467124	135896898	2102	18558										
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467569	10467571	+	In_Frame_Del	DEL	CTC	CTC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttcttcttgctgtccttCtccttctgtttctttagttt					rs200175359		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10467569_10467571delCTC	ENST00000382483.3	-	4	4260_4262	c.4037_4039delGAG	c.(4036-4041)ggagaa>gaa	p.G1346del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1362	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		tgctgtccttctccttctgtttc	0.483																																					p.1346_1347del		Atlas-Indel	.											.	RP1L1	453	.	0			c.4038_4040del						PASS	.																																			SO:0001651	inframe_deletion	94137	exon4			.	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4037_4039delGAG	8.37:g.10467569_10467571delCTC	ENSP00000371923:p.Gly1346del	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	208	13	0.0625	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																			.	.	none		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			-	10467571	CTC	-	10467569	7	5	23	1	0	1	0	1	0	0	0	0	13533	922	32	0	3167	0	RP1L1	8	10467569	In_Frame_Del	DEL	CTC	TCGA-GR-7353-01A-11D-2210-10	445	10467569	135896453	2103	18559	390	2								
RP1L1	94137	hgsc.bcm.edu	37	chr8	10467576	10467576	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttgctgtccttctccttcTgtttctttagtttcctctaa					rs4840499	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10467576T>C	ENST00000382483.3	-	4	4255	c.4032A>G	c.(4030-4032)acA>acG	p.T1344T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1360	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cttctccttctgtttctttag	0.483																																					p.T1344T		Atlas-SNP	.											.	RP1L1	453	.	0			c.A4032G						PASS	.						87	82	84					8																	10467576		1932	4125	6057	SO:0001819	synonymous_variant	94137	exon4			TCCTTCTGTTTCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4032A>G	8.37:g.10467576T>C		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	224	87	0.388393	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			T|0.566;C|0.434	0.434	strong		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10467576	T	C	10467576	2	2	23	1	0	0	0	0	0	0	0	1	13533	1567	55	3		3	RP1L1	8	10467576	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7	10467576	135896446	2104	18560	390	2								
PINX1	54984	hgsc.bcm.edu	37	chr8	10689212	10689212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcaagtgttcagttcggcCagaagctggttaaaatcatc	11	8	2	1	rs12375394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:10689212C>T	ENST00000314787.3	-	4	383	c.264G>A	c.(262-264)ctG>ctA	p.L88L	PINX1_ENST00000520018.2_5'Flank|SOX7_ENST00000554914.1_Silent_p.L88L|SOX7_ENST00000553390.1_Silent_p.L88L|PINX1_ENST00000519088.1_Silent_p.L88L|PINX1_ENST00000426190.2_Silent_p.L86L	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	88					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCAGTTCGGCCAGAAGCTGGT	0.403													C|||	506	0.101038	0.0416	0.1268	5008	,	,		16577	0.001		0.2048	False		,,,				2504	0.1595				p.L88L		Atlas-SNP	.											.	PINX1	38	.	0			c.G264A						PASS	.	C		245,3481		12,221,1630	79	82	81		264	3.6	1	8	dbSNP_120	81	1784,6406		178,1428,2489	no	coding-synonymous	PINX1	NM_017884.4		190,1649,4119	TT,TC,CC		21.7827,6.5754,17.0275		88/329	10689212	2029,9887	1863	4095	5958	SO:0001819	synonymous_variant	54984	exon4			TTCGGCCAGAAGC	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.264G>A	8.37:g.10689212C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	171	63	0.368421	NM_017884	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Silent	SNP	ENST00000314787.3	37	CCDS47801.1																																																																																			C|0.884;T|0.116	0.116	strong		0.403	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		T	10689212	C	T	10689212	2	4	23	1	0	0	0	0	0	0	0	1	11933	581	21	2		2	PINX1	8	10689212	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	221636	10689212	135674810	2105	18561										
AMAC1L2	83650	hgsc.bcm.edu	37	chr8	11189402	11189402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggggcagaggggatcctcGccttggtctccttcacatgt	14	11	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:11189402G>A	ENST00000382435.4	+	1	1006	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	263						integral component of membrane (GO:0016021)		p.A263T(1)									GGGGATCCTCGCCTTGGTCTC	0.627																																					p.A263T		Atlas-SNP	.											AMAC1L2,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.G787A						scavenged	.						119	114	116					8																	11189402		2203	4300	6503	SO:0001583	missense	83650	exon1			ATCCTCGCCTTGG	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.787G>A	8.37:g.11189402G>A	ENSP00000371872:p.Ala263Thr	Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	350	7	0.02	NM_054028	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696740	0.15106	.	.	ENSG00000177710	ENST00000382435	T	0.67171	-0.25	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.49779	0.1577	L	0.51422	1.61	0.29947	N	0.820555	B	0.14012	0.009	B	0.14578	0.011	T	0.27536	-1.0071	9	0.19590	T	0.45	-2.6207	2.8509	0.05558	3.0E-4:2.0E-4:0.5024:0.497	.	263	Q96KT7	S35G5_HUMAN	T	263	ENSP00000371872:A263T	ENSP00000371872:A263T	A	+	1	0	SLC35G5	11226812	0.224000	0.23674	0.171000	0.22900	0.172000	0.22775	0.512000	0.22755	0.088000	0.17205	0.089000	0.15464	GCC	.	.	none		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189402	G	A	11189402	3	1	23	1	0	0	0	0	1	0	0	0	560	1087	38	1	789	1	AMAC1L2	8	11189402	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	500190	11189402	135174620	2106	18562										
AMAC1L2	83650	hgsc.bcm.edu	37	chr8	11189591	11189591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcattgccatcattacagccCggaacctcagctgtgagagg	11	12	2	1	rs62488717		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:11189591C>T	ENST00000382435.4	+	1	1195	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	326						integral component of membrane (GO:0016021)											CATTACAGCCCGGAACCTCAG	0.532																																					p.R326W		Atlas-SNP	.											AMAC1L2,NS,carcinoma,-1,1	.	.	1	0			c.C976T						scavenged	.						69	69	69					8																	11189591		2203	4300	6503	SO:0001583	missense	83650	exon1			ACAGCCCGGAACC	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.976C>T	8.37:g.11189591C>T	ENSP00000371872:p.Arg326Trp	Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	201	39	0.19403	NM_054028	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	c	5.532	0.283160	0.10458	.	.	ENSG00000177710	ENST00000382435	T	0.70516	-0.49	.	.	.	.	0.165937	0.28236	N	0.016094	T	0.43389	0.1245	N	0.08118	0	0.24617	N	0.993699	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	8	0.39692	T	0.17	0.2542	.	.	.	rs62488717	326	Q96KT7	S35G5_HUMAN	W	326	ENSP00000371872:R326W	ENSP00000371872:R326W	R	+	1	2	SLC35G5	11227001	0.026000	0.19158	0.289000	0.24876	0.290000	0.27261	1.262000	0.32992	0.064000	0.16427	0.064000	0.15345	CGG	.	.	weak		0.532	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189591	C	T	11189591	3	4	23	1	0	0	0	0	1	0	0	0	560	643	23	1	978	1	AMAC1L2	8	11189591	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	189	11189591	135174431	2107	18563										
NEIL2	252969	hgsc.bcm.edu	37	chr8	11640784	11640784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtcttggagctcttccccAgtggtcacacccacctgtga	9	14	3	1	rs8191642	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:11640784A>G	ENST00000284503.6	+	4	1163	c.564A>G	c.(562-564)ccA>ccG	p.P188P	NEIL2_ENST00000455213.2_Silent_p.P188P|NEIL2_ENST00000528323.1_Silent_p.P72P|NEIL2_ENST00000436750.3_Silent_p.P188P|NEIL2_ENST00000403422.3_Silent_p.P127P	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	188					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GCTCTTCCCCAGTGGTCACAC	0.512								Base excision repair (BER), DNA glycosylases					A|||	1075	0.214657	0.4175	0.1816	5008	,	,		23263	0.0109		0.2376	False		,,,				2504	0.1503				p.P188P		Atlas-SNP	.											.	NEIL2	14	.	0			c.A564G						PASS	.	A	,,,	1609,2797	498.9+/-364.3	284,1041,878	219	196	204		564,381,216,564	-7.4	0	8	dbSNP_117	204	1943,6657	343.0+/-324.7	224,1495,2581	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEIL2	NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2	,,,	508,2536,3459	GG,GA,AA		22.593,36.5184,27.3105	,,,	188/333,127/272,72/217,188/333	11640784	3552,9454	2203	4300	6503	SO:0001819	synonymous_variant	252969	exon4			TTCCCCAGTGGTC	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.564A>G	8.37:g.11640784A>G		Somatic	413	1	0.00242131		WXS	Illumina HiSeq	Phase_I	484	154	0.318182	NM_001135746	B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	CCDS5984.1																																																																																			A|0.751;G|0.249	0.249	strong		0.512	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		G	11640784	A	G	11640784	2	3	23	1	0	0	0	0	0	0	0	1	10319	175	7	3		3	NEIL2	8	11640784	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	451193	11640784	134723238	2108	18564										
CTSB	1508	hgsc.bcm.edu	37	chr8	11710174	11710174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatagcctcttcaagtagcTcatgtccacgttgtagaagt	8	10	3	1	rs1803250	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:11710174T>C	ENST00000353047.6	-	3	410	c.157A>G	c.(157-159)Agc>Ggc	p.S53G	CTSB_ENST00000534510.1_Missense_Mutation_p.S53G|CTSB_ENST00000531089.1_Missense_Mutation_p.S53G|CTSB_ENST00000530640.2_Missense_Mutation_p.S53G|CTSB_ENST00000434271.1_Missense_Mutation_p.S53G|CTSB_ENST00000345125.3_Missense_Mutation_p.S53G|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000415599.2_Missense_Mutation_p.S53G|CTSB_ENST00000453527.2_Missense_Mutation_p.S53G|CTSB_ENST00000533455.1_Missense_Mutation_p.S53G	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	53			S -> G (in dbSNP:rs1803250). {ECO:0000269|PubMed:15489334}.		cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TTCAAGTAGCTCATGTCCACG	0.612													T|||	288	0.057508	0.0325	0.0879	5008	,	,		17881	0.0		0.1511	False		,,,				2504	0.0327				p.S53G		Atlas-SNP	.											.	CTSB	24	.	0			c.A157G						PASS	.	T	GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER	219,4187	131.0+/-167.6	6,207,1990	139	106	117		157,157,157,157,157	5.8	1	8	dbSNP_89	117	1196,7404	242.5+/-272.5	87,1022,3191	yes	missense,missense,missense,missense,missense	CTSB	NM_001908.3,NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2	56,56,56,56,56	93,1229,5181	CC,CT,TT		13.907,4.9705,10.8796	benign,benign,benign,benign,benign	53/340,53/340,53/340,53/340,53/340	11710174	1415,11591	2203	4300	6503	SO:0001583	missense	1508	exon5			AGTAGCTCATGTC	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.157A>G	8.37:g.11710174T>C	ENSP00000345672:p.Ser53Gly	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	27	0.397059	NM_147780	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	176	0.08058608058608059	21	0.042682926829268296	36	0.09944751381215469	0	0.0	119	0.15699208443271767	T	13.56	2.272847	0.40194	0.049705	0.13907	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.85	5.85	0.93711	Peptidase C1A, propeptide (1);	0.071971	0.85682	D	0.000000	T	0.00144	0.0004	L	0.47190	1.495	0.22034	P	0.999404319	B	0.21753	0.06	B	0.15052	0.012	T	0.05666	-1.0871	9	0.38643	T	0.18	.	11.4166	0.49956	0.0:0.0:0.1508:0.8492	rs1803250;rs2230068;rs11548598;rs17757721;rs17855418;rs52837364;rs61727982	53	P07858	CATB_HUMAN	G	53	ENSP00000415889:S53G;ENSP00000345672:S53G;ENSP00000435105:S53G;ENSP00000433215:S53G;ENSP00000409917:S53G;ENSP00000411254:S53G;ENSP00000342070:S53G;ENSP00000432244:S53G;ENSP00000434217:S53G;ENSP00000436159:S53G;ENSP00000433995:S53G;ENSP00000435074:S53G;ENSP00000436627:S53G;ENSP00000434725:S53G;ENSP00000436122:S53G;ENSP00000431518:S53G;ENSP00000435650:S53G;ENSP00000436074:S53G;ENSP00000435886:S53G;ENSP00000431143:S53G;ENSP00000435260:S53G;ENSP00000433929:S53G	ENSP00000342070:S53G	S	-	1	0	CTSB	11747583	1.000000	0.71417	0.994000	0.49952	0.560000	0.35617	3.402000	0.52608	2.233000	0.73108	0.533000	0.62120	AGC	T|0.896;C|0.103;A|0.000	0.103	strong		0.612	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		C	11710174	T	C	11710174	3	2	23	1	0	0	0	0	1	0	0	0	4030	1551	54	3	894	3	CTSB	8	11710174	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	69390	11710174	134653848	2109	18565										
C8orf79	57604	hgsc.bcm.edu	37	chr8	12879198	12879198	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaacatttaaatggagaccAtcaaggggaaatgaggagaa	12	4	1	3	rs34995506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:12879198A>T	ENST00000524591.2	+	5	1499	c.1010A>T	c.(1009-1011)cAt>cTt	p.H337L	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	337			H -> L (in dbSNP:rs34995506).				methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AATGGAGACCATCAAGGGGAA	0.433													A|||	978	0.195288	0.2436	0.1585	5008	,	,		19756	0.1885		0.1183	False		,,,				2504	0.2423				p.H337L		Atlas-SNP	.											.	KIAA1456	20	.	0			c.A1010T						PASS	.	A	LEU/HIS,LEU/HIS	829,2877		97,635,1121	71	70	70		632,1010	-2.3	0	8	dbSNP_126	70	1122,7074		80,962,3056	yes	missense,missense	KIAA1456	NM_001099677.1,NM_020844.2	99,99	177,1597,4177	TT,TA,AA		13.6896,22.3691,16.3922	benign,benign	211/329,337/455	12879198	1951,9951	1853	4098	5951	SO:0001583	missense	57604	exon5			GAGACCATCAAGG	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1010A>T	8.37:g.12879198A>T	ENSP00000432695:p.His337Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	98	98	1	NM_020844	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	378	0.17307692307692307	113	0.22967479674796748	64	0.17679558011049723	112	0.1958041958041958	89	0.11741424802110818	A	4.289	0.052782	0.08291	0.223691	0.136896	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.09445	2.98	4.38	-2.34	0.06704	.	2.018840	0.01919	N	0.040416	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.26400	0.148	B	0.17433	0.018	T	0.39881	-0.9592	9	0.22109	T	0.4	1.2381	0.3267	0.00312	0.3156:0.2675:0.1572:0.2598	rs34995506;rs62486881	337	Q9P272	K1456_HUMAN	L	337;250	ENSP00000432695:H337L	ENSP00000432695:H337L	H	+	2	0	AC135352.2	12923569	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	0.072000	0.14617	-0.507000	0.06549	-0.496000	0.04628	CAT	A|0.832;T|0.168	0.168	strong		0.433	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		T	12879198	A	T	12879198	3	4	23	1	0	0	0	0	1	0	0	0	2438	217	8	5	1020	5	C8orf79	8	12879198	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1169024	12879198	133484824	2110	18566										
DLC1	10395	hgsc.bcm.edu	37	chr8	12958025	12958025	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcatcctcgctggggggCgcgtggctggggaggctgcc	20	12	0	0	rs3739298	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:12958025C>A	ENST00000276297.4	-	9	2230	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	DLC1_ENST00000520226.1_Silent_p.A96A|DLC1_ENST00000512044.2_Silent_p.A204A|DLC1_ENST00000358919.2_Silent_p.A170A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	607					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGCTGGGGGGCGCGTGGCTGG	0.677													C|||	1753	0.35004	0.1059	0.4957	5008	,	,		16123	0.6161		0.3241	False		,,,				2504	0.3292				p.A607A		Atlas-SNP	.											.	DLC1	411	.	0			c.G1821T						PASS	.	C	,,	722,3672		59,604,1534	36	43	41		288,510,1821	-0.5	0	8	dbSNP_107	41	2817,5767		473,1871,1948	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	532,2475,3482	AA,AC,CC		32.8169,16.4315,27.2692	,,	96/1018,170/1092,607/1529	12958025	3539,9439	2197	4292	6489	SO:0001819	synonymous_variant	10395	exon9			GGGGGGCGCGTGG	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1821G>T	8.37:g.12958025C>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	27	0.6	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																			C|0.703;A|0.297	0.297	strong		0.677	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		A	12958025	C	A	12958025	2	1	23	1	0	0	0	0	0	0	0	1	4550	755	27	4		4	DLC1	8	12958025	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	78827	12958025	133405997	2111	18567										
SLC7A2	6542	hgsc.bcm.edu	37	chr8	17396415	17396415	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctgccccaccggtttgcGacagcaagtttctcctgtaa	8	15	1	0	rs13259978	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17396415G>A	ENST00000494857.1	+	3	196				SLC7A2_ENST00000004531.10_Missense_Mutation_p.D28N|SLC7A2_ENST00000398090.3_Missense_Mutation_p.D28N|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Missense_Mutation_p.D28N	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCGGTTTGCGACAGCAAGTT	0.413													G|||	53	0.0105831	0.0015	0.0101	5008	,	,		17605	0.0		0.0358	False		,,,				2504	0.0082				p.D28N		Atlas-SNP	.											.	SLC7A2	157	.	0			c.G82A						PASS	.						99	89	92					8																	17396415		1832	4086	5918	SO:0001627	intron_variant	6542	exon1			GTTTGCGACAGCA	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4412G>A	8.37:g.17396415G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	121	76	0.628099	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	9.073	0.997403	0.19043	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88975	-2.45;-2.3;-2.45	3.54	-1.78	0.07957	.	.	.	.	.	T	0.73768	0.3629	.	.	.	0.80722	P	0.0	B;B	0.15141	0.012;0.012	B;B	0.12156	0.007;0.007	T	0.58211	-0.7676	7	0.21540	T	0.41	.	0.5525	0.00665	0.1741:0.3011:0.1787:0.3461	.	28;28	P52569-3;P52569-2	.;.	N	28	ENSP00000419873:D28N;ENSP00000004531:D28N;ENSP00000381164:D28N	ENSP00000004531:D28N	D	+	1	0	SLC7A2	17440794	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.069000	0.11542	-0.398000	0.07679	-0.256000	0.11100	GAC	A|0.011;C|0.200;G|0.789	0.011	strong		0.413	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17396415	G	A	17396415	1	1	23	0	1	0	0	0	0	0	0	0	14697	1058	37	1		1	SLC7A2	8	17396415	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4438390	17396415	128967607	2112	18568										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17612518	17612518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actggtgacctttcctgaagAacatgcacactgatttccaa	7	11	0	4	rs61733696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17612518A>G	ENST00000262102.6	-	2	1023	c.799T>C	c.(799-801)Tct>Cct	p.S267P	MTUS1_ENST00000381862.3_Missense_Mutation_p.S267P|MTUS1_ENST00000381869.3_Missense_Mutation_p.S267P|MTUS1_ENST00000519263.1_Missense_Mutation_p.S267P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	267					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTCCTGAAGAACATGCACAC	0.428													A|||	159	0.0317492	0.0	0.0144	5008	,	,		21815	0.0714		0.0288	False		,,,				2504	0.0491				p.S267P		Atlas-SNP	.											.	MTUS1	144	.	0			c.T799C						PASS	.	A	PRO/SER,PRO/SER	28,3874		0,28,1923	213	195	201		799,799	4.3	0.9	8	dbSNP_129	201	290,8006		4,282,3862	yes	missense,missense	MTUS1	NM_001001924.2,NM_001001925.2	74,74	4,310,5785	GG,GA,AA		3.4957,0.7176,2.607	probably-damaging,probably-damaging	267/1271,267/1217	17612518	318,11880	1951	4148	6099	SO:0001583	missense	57509	exon2			CTGAAGAACATGC	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.799T>C	8.37:g.17612518A>G	ENSP00000262102:p.Ser267Pro	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	89	61	0.685393	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	60	0.027472527472527472	0	0.0	10	0.027624309392265192	26	0.045454545454545456	24	0.0316622691292876	A	12.91	2.078409	0.36662	0.007176	0.034957	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.30182	2.45;2.5;2.45;1.54	4.29	4.29	0.51040	.	0.100277	0.43260	D	0.000582	T	0.09379	0.0231	L	0.32530	0.975	0.33123	D	0.541998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.35895	-0.9770	10	0.87932	D	0	-13.4164	10.1107	0.42561	1.0:0.0:0.0:0.0	rs61733696	267;267;267	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	P	267	ENSP00000371293:S267P;ENSP00000262102:S267P;ENSP00000430167:S267P;ENSP00000371286:S267P	ENSP00000262102:S267P	S	-	1	0	MTUS1	17656798	0.024000	0.19004	0.900000	0.35374	0.186000	0.23388	0.880000	0.28159	2.163000	0.67991	0.482000	0.46254	TCT	A|0.971;G|0.029	0.029	strong		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		G	17612518	A	G	17612518	3	3	23	1	0	0	0	0	1	0	0	0	9965	246	9	2	3388	2	MTUS1	8	17612518	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	216103	17612518	128751504	2113	18569										
MTUS1	57509	hgsc.bcm.edu	37	chr8	17612846	17612846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcatgtcaaatgtttggttTagctccaaggcatcacagta	9	8	3	0	rs3739408	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17612846T>C	ENST00000262102.6	-	2	695	c.471A>G	c.(469-471)ctA>ctG	p.L157L	MTUS1_ENST00000381862.3_Silent_p.L157L|MTUS1_ENST00000381869.3_Silent_p.L157L|MTUS1_ENST00000519263.1_Silent_p.L157L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	157					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATGTTTGGTTTAGCTCCAAGG	0.453													T|||	650	0.129792	0.0635	0.232	5008	,	,		10707	0.1478		0.1521	False		,,,				2504	0.1053				p.L157L		Atlas-SNP	.											.	MTUS1	144	.	0			c.A471G						PASS	.	T	,	298,3654		8,282,1686	144	132	136		471,471	2.9	0.8	8	dbSNP_107	136	1243,7055		80,1083,2986	no	coding-synonymous,coding-synonymous	MTUS1	NM_001001924.2,NM_001001925.2	,	88,1365,4672	CC,CT,TT		14.9795,7.5405,12.5796	,	157/1271,157/1217	17612846	1541,10709	1976	4149	6125	SO:0001819	synonymous_variant	57509	exon2			TTGGTTTAGCTCC	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.471A>G	8.37:g.17612846T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	215	89	0.413953	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																			T|0.855;C|0.145	0.145	strong		0.453	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		C	17612846	T	C	17612846	2	2	23	1	0	0	0	0	0	0	0	1	9965	1741	61	2		2	MTUS1	8	17612846	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	328	17612846	128751176	2114	18570										
PCM1	5108	hgsc.bcm.edu	37	chr8	17817553	17817553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctcaaggagttatctctGccagtgcatcaaatttggat	9	9	3	0	rs17635381	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17817553G>T	ENST00000519253.1	+	14	2322	c.2071G>T	c.(2071-2073)Gcc>Tcc	p.A691S	PCM1_ENST00000325083.8_Missense_Mutation_p.A691S|PCM1_ENST00000524226.1_Missense_Mutation_p.A692S			Q15154	PCM1_HUMAN	pericentriolar material 1	691			A -> S (in dbSNP:rs17635381).		centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTTATCTCTGCCAGTGCATC	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								G|||	723	0.144369	0.0227	0.1268	5008	,	,		17835	0.3661		0.1272	False		,,,				2504	0.1104				p.A691S		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1	120	.	0			c.G2071T						PASS	.	G	SER/ALA	128,3638		5,118,1760	73	68	70		2071	5.2	1	8	dbSNP_123	70	1192,7040		77,1038,3001	yes	missense	PCM1	NM_006197.3	99	82,1156,4761	TT,TG,GG		14.4801,3.3988,11.0018	probably-damaging	691/2025	17817553	1320,10678	1883	4116	5999	SO:0001583	missense	5108	exon14			ATCTCTGCCAGTG		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2071G>T	8.37:g.17817553G>T	ENSP00000431099:p.Ala691Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	203	63	0.310345	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		379	0.17353479853479853	13	0.026422764227642278	48	0.13259668508287292	214	0.3741258741258741	104	0.13720316622691292	G	12.27	1.886862	0.33348	0.033988	0.144801	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.28454	3.5;2.55;1.61;1.61	5.17	5.17	0.71159	.	0.268940	0.35903	N	0.002912	T	0.00012	0.0000	L	0.44542	1.39	0.09310	P	1.0	B;B;P;B	0.40534	0.144;0.044;0.72;0.031	B;B;B;B	0.43536	0.082;0.082;0.423;0.017	T	0.50591	-0.8810	9	0.25106	T	0.35	-0.1599	16.7078	0.85377	0.0:0.0:1.0:0.0	rs17635381;rs17635381	691;730;692;691	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	S	691;730;691;692	ENSP00000327077:A691S;ENSP00000428131:A730S;ENSP00000431099:A691S;ENSP00000430521:A692S	ENSP00000327077:A691S	A	+	1	0	PCM1	17861833	1.000000	0.71417	0.992000	0.48379	0.161000	0.22273	3.715000	0.54897	2.791000	0.96007	0.637000	0.83480	GCC	G|0.834;N|0.000	.	strong		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		T	17817553	G	T	17817553	3	4	23	1	0	0	0	0	1	0	0	0	11584	1319	46	4	2117	4	PCM1	8	17817553	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	204707	17817553	128546469	2115	18571										
PCM1	5108	hgsc.bcm.edu	37	chr8	17824674	17824674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactaacttttcatcatttgCaccaggtaggtgacttaacc	6	10	2	1	rs565676613		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17824674C>T	ENST00000519253.1	+	21	3658	c.3407C>T	c.(3406-3408)gCa>gTa	p.A1136V	PCM1_ENST00000325083.8_Missense_Mutation_p.A1136V|PCM1_ENST00000524226.1_Missense_Mutation_p.A1137V			Q15154	PCM1_HUMAN	pericentriolar material 1	1136					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.A1136V(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TCATCATTTGCACCAGGTAGG	0.353			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																p.A1136V		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	PCM1,colon,carcinoma,0,1	PCM1	120	1	1	Substitution - Missense(1)	large_intestine(1)	c.C3407T						PASS	.						43	42	42					8																	17824674		1826	4087	5913	SO:0001583	missense	5108	exon21			CATTTGCACCAGG		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3407C>T	8.37:g.17824674C>T	ENSP00000431099:p.Ala1136Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	134	82	0.61194	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	C	15.01	2.707472	0.48412	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.56776	0.44;0.44;0.44	5.7	4.83	0.62350	.	0.317735	0.40302	N	0.001125	T	0.32882	0.0844	N	0.14661	0.345	0.80722	D	1	P;B;P	0.35575	0.51;0.001;0.51	B;B;B	0.31442	0.13;0.004;0.13	T	0.19976	-1.0289	10	0.40728	T	0.16	-3.1369	11.1977	0.48722	0.0:0.8595:0.0:0.1405	.	1136;1137;1136	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	V	1136;1136;1137	ENSP00000327077:A1136V;ENSP00000431099:A1136V;ENSP00000430521:A1137V	ENSP00000327077:A1136V	A	+	2	0	PCM1	17868954	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.612000	0.46343	1.584000	0.49913	-0.151000	0.13558	GCA	.	.	none		0.353	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		T	17824674	C	T	17824674	3	4	23	1	0	0	0	0	1	0	0	0	11584	710	25	2	3481	2	PCM1	8	17824674	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7121	17824674	128539348	2116	18572										
PCM1	5108	hgsc.bcm.edu	37	chr8	17847418	17847418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccataaaataagtgagcaAaatgatgctgataatgctag	8	6	0	3	rs145539051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:17847418A>G	ENST00000519253.1	+	27	4712	c.4461A>G	c.(4459-4461)caA>caG	p.Q1487Q	PCM1_ENST00000325083.8_Silent_p.Q1487Q|PCM1_ENST00000327578.8_Silent_p.Q186Q|PCM1_ENST00000524226.1_Silent_p.Q1433Q			Q15154	PCM1_HUMAN	pericentriolar material 1	1487	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TAAGTGAGCAAAATGATGCTG	0.308			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A|||	18	0.00359425	0.0015	0.0058	5008	,	,		18234	0.0		0.0099	False		,,,				2504	0.002				p.Q1487Q		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1	120	.	0			c.A4461G						PASS	.	A		13,3403		0,13,1695	86	80	82		4461	-1.6	1	8	dbSNP_134	82	106,7508		0,106,3701	no	coding-synonymous	PCM1	NM_006197.3		0,119,5396	GG,GA,AA		1.3922,0.3806,1.0789		1487/2025	17847418	119,10911	1708	3807	5515	SO:0001819	synonymous_variant	5108	exon27			TGAGCAAAATGAT		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4461A>G	8.37:g.17847418A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37		13	0.005952380952380952	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	A	5.205	0.223287	0.09863	0.003806	0.013922	ENSG00000078674	ENST00000522275	.	.	.	5.17	-1.58	0.08479	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-4.1258	2.8152	0.05454	0.5136:0.1104:0.2686:0.1075	.	.	.	.	R	227	.	.	K	+	2	0	PCM1	17891698	0.998000	0.40836	0.990000	0.47175	0.774000	0.43823	0.689000	0.25437	-0.140000	0.11394	-2.258000	0.00281	AAA	A|0.991;G|0.009	0.009	strong		0.308	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		G	17847418	A	G	17847418	2	3	23	1	0	0	0	0	0	0	0	1	11584	11	1	2		2	PCM1	8	17847418	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22744	17847418	128516604	2117	18573										
NAT2	10	hgsc.bcm.edu	37	chr8	18258103	18258103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttatttacgcttgaacctcGaacaattgaagattttgagt	7	7	0	4	rs1799930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:18258103G>A	ENST00000286479.3	+	2	697	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NAT2_ENST00000520116.1_Missense_Mutation_p.R67Q	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	197			R -> Q (in allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator; dbSNP:rs1799930). {ECO:0000269|PubMed:1381364, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16416399, ECO:0000269|Ref.14, ECO:0000269|Ref.8}.		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CTTGAACCTCGAACAATTGAA	0.363									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				G|||	1327	0.264976	0.2375	0.1715	5008	,	,		18802	0.256		0.2823	False		,,,				2504	0.3599				p.R197Q		Atlas-SNP	.											.	NAT2	34	.	0			c.G590A	GRCh37	CM910270	NAT2	M	rs1799930	PASS	.	G	GLN/ARG	1171,3235	388.6+/-327.0	169,833,1201	87	93	91	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	590	2.5	1	8	dbSNP_89	91	2497,6103	403.0+/-347.6	356,1785,2159	yes	missense	NAT2	NM_000015.2	43	525,2618,3360	AA,AG,GG		29.0349,26.5774,28.2024	probably-damaging	197/291	18258103	3668,9338	2203	4300	6503	SO:0001583	missense	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	AACCTCGAACAAT	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.590G>A	8.37:g.18258103G>A	ENSP00000286479:p.Arg197Gln	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	92	37	0.402174	NM_000015	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	535	0.24496336996336995	130	0.26422764227642276	65	0.17955801104972377	129	0.22552447552447552	211	0.2783641160949868	G	13.33	2.204474	0.38905	0.265774	0.290349	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02140	4.43;4.43	2.51	2.51	0.30379	.	0.074179	0.53938	D	0.000041	T	0.00012	0.0000	M	0.76328	2.33	0.23010	P	0.99843819	D	0.89917	1.0	D	0.78314	0.991	T	0.44050	-0.9353	9	0.51188	T	0.08	.	8.6215	0.33864	0.0:0.0:1.0:0.0	rs1799930;rs4646269;rs17517027;rs17856496;rs60190029;rs1799930	197	A4Z6T7	.	Q	197;67	ENSP00000286479:R197Q;ENSP00000428416:R67Q	ENSP00000286479:R197Q	R	+	2	0	NAT2	18302383	0.068000	0.21057	0.990000	0.47175	0.021000	0.10359	1.291000	0.33330	1.706000	0.51276	0.436000	0.28706	CGA	G|0.742;A|0.258	0.258	strong		0.363	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		A	18258103	G	A	18258103	3	1	23	1	0	0	0	0	1	0	0	0	10177	1058	37	1	592	1	NAT2	8	18258103	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	410685	18258103	128105919	2118	18574										
NAT2	10	hgsc.bcm.edu	37	chr8	18258316	18258316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaggttgaagaagtgctgaGaaatatatttaagatttcct	10	3	0	5	rs1208	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:18258316G>A	ENST00000286479.3	+	2	910	c.803G>A	c.(802-804)aGa>aAa	p.R268K	NAT2_ENST00000520116.1_Missense_Mutation_p.R138K	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	268			K -> R (in allele NAT2*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; dbSNP:rs1208). {ECO:0000269|PubMed:16416399, ECO:0000269|PubMed:7915226, ECO:0000269|Ref.10, ECO:0000269|Ref.11, ECO:0000269|Ref.12, ECO:0000269|Ref.14, ECO:0000269|Ref.7, ECO:0000269|Ref.8}.		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	GAAGTGCTGAGAAATATATTT	0.378									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				A|||	3391	0.677117	0.6051	0.6268	5008	,	,		15994	0.9603		0.5616	False		,,,				2504	0.637				p.R268K		Atlas-SNP	.											.	NAT2	34	.	0			c.G803A	GRCh37	CM910271	NAT2	M	rs1208	PASS	.	A	LYS/ARG	2646,1760		802,1042,359	48	53	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	803	1.5	0	8	dbSNP_36	51	4951,3647		1421,2109,769	yes	missense	NAT2	NM_000015.2	26	2223,3151,1128	AA,AG,GG		42.4168,39.9455,41.5795	benign	268/291	18258316	7597,5407	2203	4299	6502	SO:0001583	missense	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	TGCTGAGAAATAT	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.803G>A	8.37:g.18258316G>A	ENSP00000286479:p.Arg268Lys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	49	47	0.959184	NM_000015	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	1493	0.6836080586080586	295	0.5995934959349594	218	0.6022099447513812	555	0.9702797202797203	425	0.5606860158311345	A	0.001	-2.883121	0.00061	0.600545	0.575832	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01665	4.7;4.7	2.71	1.54	0.23209	.	0.490064	0.19833	N	0.105043	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.30765	-0.9967	8	0.02654	T	1	.	4.6966	0.12806	0.7038:0.0:0.2962:0.0	rs1208;rs3181478;rs17126586;rs17845485;rs17858365;rs52821724;rs56599719;rs58999469;rs1208	268	A4Z6T7	.	K	268;138	ENSP00000286479:R268K;ENSP00000428416:R138K	ENSP00000286479:R268K	R	+	2	0	NAT2	18302596	0.375000	0.25089	0.002000	0.10522	0.037000	0.13140	0.588000	0.23924	0.047000	0.15862	-0.665000	0.03846	AGA	G|0.370;A|0.630	0.630	strong		0.378	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		A	18258316	G	A	18258316	3	1	23	1	0	0	0	0	1	0	0	0	10177	942	33	2	805	2	NAT2	8	18258316	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	213	18258316	128105706	2119	18575										
PSD3	23362	hgsc.bcm.edu	37	chr8	18729459	18729459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcctcctgtccacagtatTtccactccttgaaattccac	3	16	1	1	rs13273954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:18729459T>C	ENST00000327040.8	-	3	1017	c.915A>G	c.(913-915)gaA>gaG	p.E305E	PSD3_ENST00000440756.2_Silent_p.E305E|PSD3_ENST00000523619.1_Silent_p.E240E	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	305					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCACAGTATTTCCACTCCTT	0.522													C|||	1473	0.294129	0.3691	0.2406	5008	,	,		18807	0.3095		0.171	False		,,,				2504	0.3415				p.E305E		Atlas-SNP	.											.	PSD3	142	.	0			c.A915G						PASS	.	C		1275,2735		222,831,952	110	114	113		915	1.8	1	8	dbSNP_121	113	1336,6992		112,1112,2940	no	coding-synonymous	PSD3	NM_015310.3		334,1943,3892	CC,CT,TT		16.0423,31.7955,21.1623		305/1048	18729459	2611,9727	2005	4164	6169	SO:0001819	synonymous_variant	23362	exon3			CAGTATTTCCACT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.915A>G	8.37:g.18729459T>C		Somatic	314	1	0.00318471		WXS	Illumina HiSeq	Phase_I	377	136	0.360743	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																			C|0.267;N|0.001	0.267	strong		0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		C	18729459	T	C	18729459	2	2	23	1	0	0	0	0	0	0	0	1	12648	1838	64	2		2	PSD3	8	18729459	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	471143	18729459	127634563	2120	18576										
PSD3	23362	hgsc.bcm.edu	37	chr8	18729529	18729529	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgcttcgatcacatcccCctgggtgctctctcccaaga	8	16	2	1	rs78452893	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:18729529C>G	ENST00000327040.8	-	3	947	c.845G>C	c.(844-846)gGg>gCg	p.G282A	PSD3_ENST00000440756.2_Missense_Mutation_p.G282A|PSD3_ENST00000523619.1_Missense_Mutation_p.G217A	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	282					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCACATCCCCCTGGGTGCTC	0.567													C|||	372	0.0742812	0.1082	0.1009	5008	,	,		17718	0.001		0.0517	False		,,,				2504	0.1084				p.G282A		Atlas-SNP	.											.	PSD3	142	.	0			c.G845C						PASS	.	C	ALA/GLY	358,3564		18,322,1621	59	60	60		845	1.8	0	8	dbSNP_132	60	462,7838		19,424,3707	yes	missense	PSD3	NM_015310.3	60	37,746,5328	GG,GC,CC		5.5663,9.128,6.7092	benign	282/1048	18729529	820,11402	1961	4150	6111	SO:0001583	missense	23362	exon3			CATCCCCCTGGGT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.845G>C	8.37:g.18729529C>G	ENSP00000324127:p.Gly282Ala	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	198	85	0.429293	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	127	0.05815018315018315	56	0.11382113821138211	33	0.09116022099447514	0	0.0	38	0.05013192612137203	C	0.099	-1.154510	0.01700	0.09128	0.055663	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.28895	1.59;1.59;1.59	5.81	1.83	0.25207	.	0.796549	0.10675	N	0.647010	T	0.00300	0.0009	N	0.19112	0.55	0.09310	N	1	B	0.23591	0.088	B	0.21360	0.034	T	0.29640	-1.0005	10	0.11485	T	0.65	.	3.858	0.08984	0.1651:0.5581:0.0:0.2768	.	282	E9KL50	.	A	282;282;217	ENSP00000324127:G282A;ENSP00000401704:G282A;ENSP00000430640:G217A	ENSP00000324127:G282A	G	-	2	0	PSD3	18773809	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.013000	0.13310	0.309000	0.22966	-1.087000	0.02190	GGG	C|0.937;G|0.063	0.063	strong		0.567	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18729529	C	G	18729529	3	3	23	1	0	0	0	0	1	0	0	0	12648	623	22	4	2390	4	PSD3	8	18729529	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	70	18729529	127634493	2121	18577										
INTS10	55174	hgsc.bcm.edu	37	chr8	19677915	19677915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaaactcttcctggtcgGgtccagtgtgaaatgttact	10	8	1	2	rs7822495	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:19677915G>A	ENST00000397977.3	+	4	725	c.327G>A	c.(325-327)cgG>cgA	p.R109R	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	109					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCTGGTCGGGTCCAGTGTG	0.423													G|||	1221	0.24381	0.2784	0.2781	5008	,	,		19987	0.2927		0.169	False		,,,				2504	0.1994				p.R109R		Atlas-SNP	.											.	INTS10	46	.	0			c.G327A						PASS	.	G		978,2756		129,720,1018	135	128	130		327	-5.2	0.7	8	dbSNP_116	130	1465,6735		144,1177,2779	no	coding-synonymous	INTS10	NM_018142.2		273,1897,3797	AA,AG,GG		17.8659,26.1918,20.4709		109/711	19677915	2443,9491	1867	4100	5967	SO:0001819	synonymous_variant	55174	exon4			TGGTCGGGTCCAG	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.327G>A	8.37:g.19677915G>A		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	198	122	0.616162	NM_018142	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	CCDS6011.2																																																																																			G|0.763;A|0.237	0.237	strong		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		A	19677915	G	A	19677915	2	1	23	1	0	0	0	0	0	0	0	1	7776	1219	43	2		2	INTS10	8	19677915	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	948386	19677915	126686107	2122	18578										
LPL	4023	hgsc.bcm.edu	37	chr8	19810826	19810826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttttcttccaaaggaggaGtttaactaccctctggacaa	7	10	2	0	rs248	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:19810826G>A	ENST00000311322.8	+	4	905	c.435G>A	c.(433-435)gaG>gaA	p.E145E		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	145					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CAAAGGAGGAGTTTAACTACC	0.373													G|||	194	0.038738	0.0522	0.0403	5008	,	,		17263	0.001		0.0666	False		,,,				2504	0.0297				p.E145E		Atlas-SNP	.											.	LPL	78	.	0			c.G435A						PASS	.	G		245,4161	143.5+/-178.5	3,239,1961	91	90	90		435	1.5	1	8	dbSNP_36	90	606,7994	158.9+/-212.3	19,568,3713	no	coding-synonymous	LPL	NM_000237.2		22,807,5674	AA,AG,GG		7.0465,5.5606,6.5431		145/476	19810826	851,12155	2203	4300	6503	SO:0001819	synonymous_variant	4023	exon4			GGAGGAGTTTAAC		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.435G>A	8.37:g.19810826G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	109	30	0.275229	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	CCDS6012.1																																																																																			G|0.944;A|0.056	0.056	strong		0.373	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			A	19810826	G	A	19810826	2	1	23	1	0	0	0	0	0	0	0	1	8921	1020	36	2		2	LPL	8	19810826	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	132911	19810826	126553196	2123	18579										
XPO7	23039	hgsc.bcm.edu	37	chr8	21847855	21847855	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcttcctttgtcttcacGtacagtagcgtaaggaagct	8	11	3	0	rs56062629	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:21847855G>C	ENST00000252512.9	+	17	1969	c.1869G>C	c.(1867-1869)ggG>ggC	p.G623G	XPO7_ENST00000434536.1_Splice_Site_p.G632G|XPO7_ENST00000433566.4_Splice_Site_p.G624G	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	623					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTGTCTTCACGTACAGTAGCG	0.448													G|||	203	0.0405351	0.0061	0.0807	5008	,	,		19479	0.0		0.1183	False		,,,				2504	0.0204				p.G623G		Atlas-SNP	.											.	XPO7	79	.	0			c.G1869C						PASS	.	G		73,3799		2,69,1865	205	190	195		1869	-6.2	0.4	8	dbSNP_129	195	838,7454		42,754,3350	yes	coding-synonymous-near-splice	XPO7	NM_015024.4		44,823,5215	CC,CG,GG		10.1061,1.8853,7.4893		623/1088	21847855	911,11253	1936	4146	6082	SO:0001630	splice_region_variant	23039	exon17			CTTCACGTACAGT	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1869-1G>C	8.37:g.21847855G>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	247	75	0.303644	NM_015024	O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	CCDS47818.1																																																																																			G|0.938;C|0.062	0.062	strong		0.448	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Silent	C	21847855	G	C	21847855	5	2	23	1	0	0	0	0	0	0	1	0	17446	1159	40	4	1987	4	XPO7	8	21847855	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2037029	21847855	124516167	2124	18580										
FAM160B2	64760	hgsc.bcm.edu	37	chr8	21955116	21955116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctgcattacctcagcgtCcacaggcctgtgcaggtgag	12	13	1	1	rs11352	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:21955116C>T	ENST00000289921.7	+	4	433	c.387C>T	c.(385-387)gtC>gtT	p.V129V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	129										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						ACCTCAGCGTCCACAGGCCTG	0.657													.|||	1855	0.370407	0.3601	0.2594	5008	,	,		16790	0.374		0.3946	False		,,,				2504	0.4346				p.V129V		Atlas-SNP	.											.	FAM160B2	35	.	0			c.C387T						PASS	.	C		1385,2707		248,889,909	24	29	27		387	2.3	1	8	dbSNP_52	27	3416,4960		701,2014,1473	no	coding-synonymous	FAM160B2	NM_022749.5		949,2903,2382	TT,TC,CC		40.7832,33.8465,38.5066		129/744	21955116	4801,7667	2046	4188	6234	SO:0001819	synonymous_variant	64760	exon4			CAGCGTCCACAGG	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.387C>T	8.37:g.21955116C>T		Somatic	244	1	0.00409836		WXS	Illumina HiSeq	Phase_I	281	161	0.572954	NM_022749	B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	ENST00000289921.7	37	CCDS6021.2																																																																																			C|0.639;T|0.361	0.361	strong		0.657	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			T	21955116	C	T	21955116	2	4	23	1	0	0	0	0	0	0	0	1	5471	842	30	2		2	FAM160B2	8	21955116	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	107261	21955116	124408906	2125	18581										
SFTPC	649	hgsc.bcm.edu	37	chr8	22021517	22021517	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctgggcatggccgtgaGcaccctgtgtggcgaggtgc	16	12	0	1	rs1124	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:22021517G>A	ENST00000306385.5	+	0	0				BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000521315.1_Missense_Mutation_p.S180N|SFTPC_ENST00000437090.2_3'UTR|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000524255.1_Missense_Mutation_p.S133N|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_Missense_Mutation_p.S186N|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000520605.1_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGGCCGTGAGCACCCTGTGT	0.682													G|||	1182	0.236022	0.0832	0.2695	5008	,	,		16924	0.3006		0.3211	False		,,,				2504	0.2648				p.S186N		Atlas-SNP	.											.	SFTPC	19	.	0			c.G557A	GRCh37	CM040800	SFTPC	M	rs1124	PASS	.	G	ASN/SER,ASN/SER,ASN/SER	432,3668		30,372,1648	44	53	50		539,557,557	2.3	1	8	dbSNP_36	50	2800,5560		470,1860,1850	yes	missense,missense,missense	SFTPC	NM_001172357.1,NM_001172410.1,NM_003018.3	46,46,46	500,2232,3498	AA,AG,GG		33.4928,10.5366,25.939	benign,benign,benign	180/192,186/198,186/198	22021517	3232,9228	2050	4180	6230	SO:0001631	upstream_gene_variant	6440	exon5			CCGTGAGCACCCT		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021517G>A	Exception_encountered	Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	293	290	0.989761	NM_003018	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	570	0.260989010989011	47	0.09552845528455285	100	0.27624309392265195	172	0.3006993006993007	251	0.3311345646437995	G	15.20	2.762010	0.49468	0.105366	0.334928	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000524255	T;T;T	0.79141	-1.24;-1.24;-1.24	5.5	2.33	0.28932	.	0.630262	0.15776	N	0.245165	T	0.00012	0.0000	.	.	.	0.37419	P	0.08645499999999995	B	0.11235	0.004	B	0.09377	0.004	T	0.11203	-1.0597	8	0.23302	T	0.38	-30.2415	5.3591	0.16077	0.3956:0.0:0.6043:0.0	rs1124;rs1126834;rs2239663;rs3182311;rs17845062;rs17857843;rs1124	180	E9PGX3	.	N	186;180;133	ENSP00000316152:S186N;ENSP00000430410:S180N;ENSP00000429552:S133N	ENSP00000316152:S186N	S	+	2	0	SFTPC	22077462	0.398000	0.25279	0.980000	0.43619	0.927000	0.56198	0.610000	0.24253	0.695000	0.31675	-0.145000	0.13849	AGC	G|0.748;A|0.252	0.252	strong		0.682	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22021517	G	A	22021517	1	1	23	0	1	0	0	0	0	0	0	0	14192	971	34	2		2	SFTPC	8	22021517	5'Flank	SNP	G	TCGA-GR-7353-01A-11D-2210-10	66401	22021517	124342505	2126	18582										
PHYHIP	9796	hgsc.bcm.edu	37	chr8	22084503	22084503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctcaccgtcatgggcagCggcactgccttggccacgag	12	16	2	0	rs11547656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:22084503C>T	ENST00000321613.3	-	4	657	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PHYHIP_ENST00000454243.2_Silent_p.P67P	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	67	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCATGGGCAGCGGCACTGCCT	0.622													C|||	1615	0.322484	0.2398	0.3401	5008	,	,		20345	0.2044		0.4304	False		,,,				2504	0.4325				p.P67P		Atlas-SNP	.											.	PHYHIP	24	.	0			c.G201A						PASS	.	C	,	1098,3244		154,790,1227	51	60	57		201,201	-11.4	0.4	8	dbSNP_120	57	3514,5002		728,2058,1472	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	882,2848,2699	TT,TC,CC		41.2635,25.2879,35.8687	,	67/331,67/331	22084503	4612,8246	2171	4258	6429	SO:0001819	synonymous_variant	9796	exon3			GGGCAGCGGCACT	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.201G>A	8.37:g.22084503C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	81	50	0.617284	NM_014759	D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																			T|0.357;G|0.000;C|0.642	0.357	strong		0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		T	22084503	C	T	22084503	2	4	23	1	0	0	0	0	0	0	0	1	11866	755	27	1		1	PHYHIP	8	22084503	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	62986	22084503	124279519	2127	18583										
POLR3D	661	hgsc.bcm.edu	37	chr8	22107986	22107986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgtgaagcacaaacttgtAtgttcccctgattttgaatc	7	10	0	3	rs75142930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:22107986A>G	ENST00000397802.4	+	8	1367	c.1152A>G	c.(1150-1152)gtA>gtG	p.V384V	POLR3D_ENST00000306433.4_Silent_p.V384V			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	384					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V384V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACAAACTTGTATGTTCCCCTG	0.552													A|||	158	0.0315495	0.0038	0.1124	5008	,	,		19379	0.006		0.0507	False		,,,				2504	0.0184				p.V384V		Atlas-SNP	.											POLR3D,NS,adenoma,0,2	POLR3D	26	2	1	Substitution - coding silent(1)	stomach(1)	c.A1152G						PASS	.	A		52,4354	52.9+/-88.7	0,52,2151	213	183	193		1152	-4.8	1	8	dbSNP_132	193	454,8146	136.7+/-193.7	6,442,3852	no	coding-synonymous	POLR3D	NM_001722.2		6,494,6003	GG,GA,AA		5.2791,1.1802,3.8905		384/399	22107986	506,12500	2203	4300	6503	SO:0001819	synonymous_variant	661	exon9			ACTTGTATGTTCC	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1152A>G	8.37:g.22107986A>G		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	186	53	0.284946	NM_001722	Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	CCDS34858.1																																																																																			A|0.958;G|0.042	0.042	strong		0.552	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		G	22107986	A	G	22107986	2	3	23	1	0	0	0	0	0	0	0	1	12231	436	16	2		2	POLR3D	8	22107986	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	23483	22107986	124256036	2128	18584										
PEBP4	157310	hgsc.bcm.edu	37	chr8	22570908	22570908	+	Frame_Shift_Del	DEL	T	T	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcagctatctccgcctggTttttgtgcttgggctcgctg					rs35121552|rs398102329	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:22570908delT	ENST00000256404.6	-	7	750	c.659delA	c.(658-660)aacfs	p.N220fs	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	220						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CTCCGCCTGGTTTTTGTGCTT	0.602													TTTT|TTTTT|TTTT|insertion	1434	0.286342	0.2413	0.4582	5008	,	,		16468	0.2996		0.3231	False		,,,				2504	0.1738				p.N220fs		Pindel	.											.	PEBP4	23	.	0			c.660delC						PASS	.			1065,2683		185,695,994	54	57	56			-4.5	0	8	dbSNP_130	78	2573,5375		433,1707,1834	no	frameshift	PEBP4	NM_144962.2		618,2402,2828	A1A1,A1R,RR		32.3729,28.4152,31.1047			22570908	3638,8058	1899	4079	5978	SO:0001589	frameshift_variant	157310	exon7			.	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.659delA	8.37:g.22570908delT	ENSP00000256404:p.Asn220fs	Somatic	127	.	.		WXS	Illumina HiSeq	Phase_I	221	69	0.312	NM_144962	Q5EVA1|Q8WW74	Frame_Shift_Del	DEL	ENST00000256404.6	37	CCDS43724.1																																																																																			T|0.680;-|0.320	0.320	strong		0.602	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		-	22570908	T	-	22570908	7	5	23	1	0	1	0	1	0	0	0	0	11714	1725	60	0	28	0	PEBP4	8	22570908	Frame_Shift_Del	DEL	T	TCGA-GR-7353-01A-11D-2210-10	462922	22570908	123793114	2129	18585										
PEBP4	157310	hgsc.bcm.edu	37	chr8	22571018	22571018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggttcgcccaggtggaaAcggttcagaaatctgtccat	11	10	3	1	rs1047398	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:22571018A>G	ENST00000256404.6	-	7	640	c.549T>C	c.(547-549)cgT>cgC	p.R183R	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	183						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CCAGGTGGAAACGGTTCAGAA	0.562													G|||	1437	0.286941	0.2436	0.4582	5008	,	,		16946	0.2996		0.3231	False		,,,				2504	0.1738				p.R183R		Atlas-SNP	.											.	PEBP4	23	.	0			c.T549C						PASS	.	G		1036,2908		136,764,1072	77	79	79		549	-1.4	0	8	dbSNP_86	79	2614,5702		402,1810,1946	no	coding-synonymous	PEBP4	NM_144962.2		538,2574,3018	GG,GA,AA		31.4334,26.2677,29.7716		183/228	22571018	3650,8610	1972	4158	6130	SO:0001819	synonymous_variant	157310	exon7			GTGGAAACGGTTC	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.549T>C	8.37:g.22571018A>G		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	203	122	0.600985	NM_144962	Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	CCDS43724.1																																																																																			A|0.697;G|0.303	0.303	strong		0.562	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		G	22571018	A	G	22571018	2	3	23	1	0	0	0	0	0	0	0	1	11714	30	2	2		2	PEBP4	8	22571018	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	110	22571018	123793004	2130	18586										
SLC25A37	51312	hgsc.bcm.edu	37	chr8	23423669	23423669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaagcccagtacacaagtAtctacggagccctcaagaaa	7	13	2	1	rs2942194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:23423669A>G	ENST00000519973.1	+	2	457	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	87			I -> V (in dbSNP:rs2942194).		iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GTACACAAGTATCTACGGAGC	0.522													A|||	867	0.173123	0.0197	0.2421	5008	,	,		17834	0.2163		0.2922	False		,,,				2504	0.1646				p.I87V		Atlas-SNP	.											.	SLC25A37	27	.	0			c.A259G						PASS	.	A	VAL/ILE	224,3528		8,208,1660	50	46	48		259	3.5	0.6	8	dbSNP_101	48	2270,5940		334,1602,2169	yes	missense	SLC25A37	NM_016612.2	29	342,1810,3829	GG,GA,AA		27.6492,5.9701,20.8494	benign	87/339	23423669	2494,9468	1876	4105	5981	SO:0001583	missense	51312	exon2			ACAAGTATCTACG	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.259A>G	8.37:g.23423669A>G	ENSP00000429200:p.Ile87Val	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	69	69	1	NM_016612	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	CCDS47828.1	436	0.19963369963369965	9	0.018292682926829267	101	0.27900552486187846	114	0.1993006993006993	212	0.2796833773087071	A	4.840	0.156136	0.09236	0.059701	0.276492	ENSG00000147454	ENST00000519973;ENST00000523930	T;T	0.79352	-1.26;-1.26	5.63	3.49	0.39957	Mitochondrial carrier domain (2);	0.108721	0.64402	N	0.000008	T	0.00012	0.0000	N	0.02865	-0.47	0.30069	P	0.8102119999999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.09818	-1.0657	9	0.02654	T	1	-0.971	5.0266	0.14389	0.4417:0.0:0.5583:0.0	rs2942194;rs3736031;rs17778429;rs61300777;rs2942194	87;87	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	V	87;68	ENSP00000429200:I87V;ENSP00000428066:I68V	ENSP00000290075:I87V	I	+	1	0	SLC25A37	23479614	1.000000	0.71417	0.591000	0.28745	0.960000	0.62799	4.460000	0.60108	0.457000	0.26962	0.533000	0.62120	ATC	A|0.818;G|0.182	0.182	strong		0.522	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		G	23423669	A	G	23423669	3	3	23	1	0	0	0	0	1	0	0	0	14501	449	16	2	265	2	SLC25A37	8	23423669	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	852651	23423669	122940353	2131	18587										
ADAM7	8756	hgsc.bcm.edu	37	chr8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacaataaactaaggaacCgaatttggggaatggtcaat	9	7	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:24333985C>T	ENST00000175238.6	+	8	756	c.673C>T	c.(673-675)Cga>Tga	p.R225*	ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R225*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.328																																					p.R225X		Atlas-SNP	.											ADAM7,NS,carcinoma,-1,4	ADAM7	165	4	0			c.C673T						PASS	.						114	106	109					8																	24333985		2203	4300	6503	SO:0001587	stop_gained	8756	exon8			AGGAACCGAATTT	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.673C>T	8.37:g.24333985C>T	ENSP00000175238:p.Arg225*	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	103	37	0.359223	NM_003817	A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	37	6.589310	0.97688	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000335595	.	.	.	5.38	2.32	0.28847	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9142	0.47126	0.496:0.504:0.0:0.0	.	.	.	.	X	225;225;40	.	ENSP00000175238:R225X	R	+	1	2	ADAM7	24389875	0.428000	0.25522	0.898000	0.35279	0.991000	0.79684	0.270000	0.18607	0.721000	0.32231	0.591000	0.81541	CGA	.	.	none		0.328	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		T	24333985	C	T	24333985	4	4	23	1	0	0	0	0	0	1	0	0	251	644	23	1	703	1	ADAM7	8	24333985	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	910316	24333985	122030037	2132	18588										
ADAM7	8756	hgsc.bcm.edu	37	chr8	24356818	24356818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaattgcccctctcagtgcAatgaaaatcctgtaagatat	6	11	1	2	rs13259668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:24356818A>C	ENST00000175238.6	+	17	1995	c.1912A>C	c.(1912-1914)Aat>Cat	p.N638H	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.N410H|ADAM7_ENST00000380789.1_Missense_Mutation_p.N638H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	638	Cys-rich.		N -> H (in dbSNP:rs13259668).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTCTCAGTGCAATGAAAATCC	0.343													C|||	1634	0.326278	0.3185	0.4452	5008	,	,		16940	0.1935		0.3062	False		,,,				2504	0.41				p.N638H		Atlas-SNP	.											.	ADAM7	165	.	0			c.A1912C						PASS	.	C	HIS/ASN	1430,2976	683.4+/-404.3	232,966,1005	130	120	123		1912	-4.4	0	8	dbSNP_121	123	2868,5732	671.8+/-402.9	486,1896,1918	yes	missense	ADAM7	NM_003817.2	68	718,2862,2923	CC,CA,AA		33.3488,32.4557,33.0463	benign	638/755	24356818	4298,8708	2203	4300	6503	SO:0001583	missense	8756	exon17			CAGTGCAATGAAA	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1912A>C	8.37:g.24356818A>C	ENSP00000175238:p.Asn638His	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	125	84	0.672	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	653	0.298992673992674	148	0.3008130081300813	156	0.430939226519337	115	0.20104895104895104	234	0.3087071240105541	C	0.278	-0.988090	0.02162	0.324557	0.333488	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.53857	1.48;1.49;0.6	4.92	-4.36	0.03645	.	1.962480	0.02172	N	0.059785	T	0.00012	0.0000	L	0.27944	0.81	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33163	-0.9879	9	0.11182	T	0.66	.	3.2326	0.06754	0.5961:0.1976:0.113:0.0933	rs13259668;rs52834855;rs59851115;rs13259668	410;638	E5RK87;Q9H2U9	.;ADAM7_HUMAN	H	638;638;410;453	ENSP00000175238:N638H;ENSP00000370166:N638H;ENSP00000430400:N410H	ENSP00000175238:N638H	N	+	1	0	ADAM7	24412708	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.275000	0.02817	-0.866000	0.04068	-1.782000	0.00648	AAT	A|0.694;C|0.306	0.306	strong		0.343	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		C	24356818	A	C	24356818	3	2	23	1	0	0	0	0	1	0	0	0	251	130	5	5	1978	5	ADAM7	8	24356818	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22833	24356818	122007204	2133	18589										
ADAM7	8756	hgsc.bcm.edu	37	chr8	24359068	24359068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaggactgagccaatcctGccagaaattcatttcctaaa	6	10	1	2	rs13277171	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:24359068G>A	ENST00000175238.6	+	20	2270	c.2187G>A	c.(2185-2187)ctG>ctA	p.L729L	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Silent_p.L501L|ADAM7_ENST00000380789.1_Silent_p.L729L|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	729						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGCCAATCCTGCCAGAAATTC	0.378													G|||	1326	0.264776	0.1006	0.428	5008	,	,		15229	0.1885		0.3042	False		,,,				2504	0.409				p.L729L		Atlas-SNP	.											ADAM7,colon,carcinoma,0,1	ADAM7	165	1	0			c.G2187A						PASS	.	G		558,3848	250.3+/-257.4	38,482,1683	77	78	78		2187	-2.7	0	8	dbSNP_121	78	2858,5742	449.2+/-362.0	482,1894,1924	no	coding-synonymous	ADAM7	NM_003817.2		520,2376,3607	AA,AG,GG		33.2326,12.6645,26.2648		729/755	24359068	3416,9590	2203	4300	6503	SO:0001819	synonymous_variant	8756	exon20			AATCCTGCCAGAA	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2187G>A	8.37:g.24359068G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	119	74	0.621849	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	CCDS6045.1																																																																																			G|0.743;A|0.257	0.257	strong		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24359068	G	A	24359068	2	1	23	1	0	0	0	0	0	0	0	1	251	1306	46	2		2	ADAM7	8	24359068	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2250	24359068	122004954	2134	18590										
CDCA2	157313	hgsc.bcm.edu	37	chr8	25364331	25364331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcctgtttcttgtgcttctGtaactgaagaacgtgtggca	11	8	2	2	rs4872318	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:25364331G>A	ENST00000330560.3	+	15	2626	c.2149G>A	c.(2149-2151)Gta>Ata	p.V717I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.V702I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	717			V -> I (in dbSNP:rs4872318). {ECO:0000269|PubMed:12188893, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692}.		mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTGTGCTTCTGTAACTGAAGA	0.393													G|||	1134	0.226438	0.031	0.3602	5008	,	,		18117	0.0982		0.3549	False		,,,				2504	0.3957				p.V717I		Atlas-SNP	.											.	CDCA2	78	.	0			c.G2149A						PASS	.	G	ILE/VAL	372,4034	176.2+/-205.4	19,334,1850	38	39	38		2149	0.8	0	8	dbSNP_111	38	2977,5623	452.4+/-362.9	502,1973,1825	yes	missense	CDCA2	NM_152562.2	29	521,2307,3675	AA,AG,GG		34.6163,8.443,25.7497	probably-damaging	717/1024	25364331	3349,9657	2203	4300	6503	SO:0001583	missense	157313	exon15			GCTTCTGTAACTG	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2149G>A	8.37:g.25364331G>A	ENSP00000328228:p.Val717Ile	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	60	38	0.633333	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	469	0.21474358974358973	14	0.028455284552845527	118	0.3259668508287293	62	0.10839160839160839	275	0.3627968337730871	G	14.92	2.678756	0.47886	0.08443	0.346163	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.47869	0.83;0.83	5.07	0.754	0.18410	.	0.967502	0.08533	N	0.931768	T	0.00012	0.0000	L	0.52573	1.65	0.80722	P	0.0	P;P	0.42908	0.793;0.793	B;B	0.40940	0.344;0.344	T	0.27706	-1.0066	9	0.36615	T	0.2	-0.7116	2.265	0.04077	0.0998:0.1708:0.3786:0.3508	rs4872318;rs17792792;rs4872318	702;717	E9PEI0;Q69YH5	.;CDCA2_HUMAN	I	717;702;116	ENSP00000328228:V717I;ENSP00000370040:V702I	ENSP00000328228:V717I	V	+	1	0	CDCA2	25420248	0.001000	0.12720	0.003000	0.11579	0.011000	0.07611	0.451000	0.21779	0.261000	0.21753	-0.188000	0.12872	GTA	G|0.761;A|0.239	0.239	strong		0.393	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25364331	G	A	25364331	3	1	23	1	0	0	0	0	1	0	0	0	3086	1377	48	2	2203	2	CDCA2	8	25364331	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1005263	25364331	120999691	2135	18591										
PTK2B	2185	hgsc.bcm.edu	37	chr8	27301725	27301725	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgtgttctctctccagccCagccgacctaagtacagacc	7	16	3	1	rs1128435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:27301725C>G	ENST00000397501.1	+	28	2959	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTK2B_ENST00000397497.4_Silent_p.P463P|PTK2B_ENST00000338238.4_Silent_p.P717P|PTK2B_ENST00000420218.2_Silent_p.P717P|PTK2B_ENST00000517339.1_Silent_p.P717P|PTK2B_ENST00000346049.5_Silent_p.P717P|PTK2B_ENST00000544172.1_Silent_p.P717P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	717	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTCTCCAGCCCAGCCGACCTA	0.532													C|||	520	0.103834	0.0325	0.0648	5008	,	,		20200	0.1419		0.1014	False		,,,				2504	0.1912				p.P717P		Atlas-SNP	.											PTK2B_ENST00000544172,bladder,carcinoma,+1,3	PTK2B	304	3	0			c.C2151G						PASS	.	C	,,,	162,4244	108.6+/-147.0	3,156,2044	128	113	118		2151,2151,2151,2151	4.3	1	8	dbSNP_86	118	926,7674	205.2+/-247.7	57,812,3431	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	,,,	60,968,5475	GG,GC,CC		10.7674,3.6768,8.3654	,,,	717/1010,717/1010,717/968,717/1010	27301725	1088,11918	2203	4300	6503	SO:0001819	synonymous_variant	2185	exon28			CCAGCCCAGCCGA	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2151C>G	8.37:g.27301725C>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	147	52	0.353741	NM_173174	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	CCDS6057.1																																																																																			C|0.913;G|0.087	0.087	strong		0.532	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		G	27301725	C	G	27301725	2	3	23	1	0	0	0	0	0	0	0	1	12763	581	21	4		4	PTK2B	8	27301725	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1937394	27301725	119062297	2136	18592										
CHRNA2	1135	hgsc.bcm.edu	37	chr8	27324822	27324822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgatgttgccaaaatcagTggggttccagcgcagtttgt	13	7	1	1	rs891398	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:27324822T>C	ENST00000520933.2	-	4	526	c.373A>G	c.(373-375)Act>Gct	p.T125A	CHRNA2_ENST00000407991.1_Missense_Mutation_p.T125A|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T110A			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	125			T -> A (in dbSNP:rs891398). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8906617, ECO:0000269|Ref.2}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CCAAAATCAGTGGGGTTCCAG	0.542													C|||	3056	0.610224	0.8298	0.5562	5008	,	,		19073	0.6498		0.5119	False		,,,				2504	0.4121				p.T125A		Atlas-SNP	.											.	CHRNA2	48	.	0			c.A373G						PASS	.	C	ALA/THR	3356,1050	383.5+/-324.9	1276,804,123	110	108	109		373	3.5	0.1	8	dbSNP_86	109	4189,4411	586.2+/-392.0	1038,2113,1149	yes	missense	CHRNA2	NM_000742.3	58	2314,2917,1272	CC,CT,TT		48.7093,23.8311,41.9883	benign	125/530	27324822	7545,5461	2203	4300	6503	SO:0001583	missense	1135	exon5			AATCAGTGGGGTT	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.373A>G	8.37:g.27324822T>C	ENSP00000429616:p.Thr125Ala	Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	247	244	0.987854	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	1376	0.63003663003663	406	0.8252032520325203	206	0.569060773480663	392	0.6853146853146853	372	0.49076517150395776	C	0.014	-1.604403	0.00849	0.761689	0.487093	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.78364	-1.17;-1.17;-1.17	5.52	3.46	0.39613	Neurotransmitter-gated ion-channel ligand-binding (3);	0.291760	0.38058	N	0.001824	T	0.00012	0.0000	N	0.00873	-1.125	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40327	-0.9569	9	0.08381	T	0.77	.	5.715	0.17954	0.1611:0.655:0.0:0.184	rs891398;rs2229958;rs3735756;rs17378583;rs57810583;rs891398	125	Q15822	ACHA2_HUMAN	A	125;125;110	ENSP00000385026:T125A;ENSP00000429616:T125A;ENSP00000240132:T110A	ENSP00000240132:T110A	T	-	1	0	CHRNA2	27380739	0.019000	0.18553	0.076000	0.20297	0.013000	0.08279	0.603000	0.24149	1.342000	0.45619	-0.119000	0.15052	ACT	T|0.402;C|0.598	0.598	strong		0.542	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			C	27324822	T	C	27324822	3	2	23	1	0	0	0	0	1	0	0	0	3383	1696	59	2	1228	2	CHRNA2	8	27324822	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23097	27324822	119039200	2137	18593										
CHRNA2	1135	hgsc.bcm.edu	37	chr8	27328511	27328511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaaacactcacctgctgggGtcagaaggagccaccacagg	11	13	2	1	rs2472553	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:27328511G>A	ENST00000520933.2	-	1	218	c.65C>T	c.(64-66)aCc>aTc	p.T22I	CHRNA2_ENST00000407991.1_Missense_Mutation_p.T22I|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T22I			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	22			T -> I (in dbSNP:rs2472553).		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ACCTGCTGGGGTCAGAAGGAG	0.542													G|||	1107	0.221046	0.1921	0.1945	5008	,	,		20986	0.4325		0.1372	False		,,,				2504	0.1472				p.T22I		Atlas-SNP	.											.	CHRNA2	48	.	0			c.C65T						PASS	.	G	ILE/THR	810,3596	322.9+/-297.8	75,660,1468	78	69	72		65	-2.5	0	8	dbSNP_100	72	1125,7475	232.1+/-265.8	78,969,3253	yes	missense	CHRNA2	NM_000742.3	89	153,1629,4721	AA,AG,GG		13.0814,18.384,14.8777	benign	22/530	27328511	1935,11071	2203	4300	6503	SO:0001583	missense	1135	exon2			GCTGGGGTCAGAA	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.65C>T	8.37:g.27328511G>A	ENSP00000429616:p.Thr22Ile	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	210	81	0.385714	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	550	0.2518315018315018	93	0.18902439024390244	69	0.19060773480662985	291	0.5087412587412588	97	0.1279683377308707	G	0	-2.672280	0.00104	0.18384	0.130814	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712;ENST00000521921	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	4.42	-2.5	0.06384	.	3.327300	0.00649	N	0.000552	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36744	-0.9735	9	0.02654	T	1	.	5.1178	0.14845	0.4675:0.1607:0.3719:0.0	rs2472553;rs57302661;rs2472553	22;22	B4DK19;Q15822	.;ACHA2_HUMAN	I	22	ENSP00000385026:T22I;ENSP00000429616:T22I;ENSP00000240132:T22I;ENSP00000430422:T22I;ENSP00000430856:T22I;ENSP00000429953:T22I	ENSP00000240132:T22I	T	-	2	0	CHRNA2	27384428	0.793000	0.28825	0.004000	0.12327	0.072000	0.16883	0.305000	0.19254	-0.388000	0.07797	-0.794000	0.03295	ACC	G|0.819;A|0.181	0.181	strong		0.542	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			A	27328511	G	A	27328511	3	1	23	1	0	0	0	0	1	0	0	0	3383	1261	44	2	1548	2	CHRNA2	8	27328511	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3689	27328511	119035511	2138	18594										
PBK	55872	hgsc.bcm.edu	37	chr8	27667969	27667969	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataggtggcctagttcccaaCgctgcatagtatgcttcatc	9	11	1	0	rs2294092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:27667969C>G	ENST00000301905.4	-	8	1285	c.822G>C	c.(820-822)gcG>gcC	p.A274A	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.A285A	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TAGTTCCCAACGCTGCATAGT	0.348													G|||	2100	0.419329	0.4289	0.4179	5008	,	,		21634	0.3829		0.4592	False		,,,				2504	0.4039				p.A274A		Atlas-SNP	.											.	PBK	29	.	0			c.G822C						PASS	.	G		1863,2543	632.3+/-395.8	398,1067,738	119	108	112		822	-1.2	1	8	dbSNP_100	112	3804,4796	612.0+/-395.9	843,2118,1339	no	coding-synonymous	PBK	NM_018492.2		1241,3185,2077	GG,GC,CC		44.2326,42.2833,43.5722		274/323	27667969	5667,7339	2203	4300	6503	SO:0001819	synonymous_variant	55872	exon8			TCCCAACGCTGCA	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.822G>C	8.37:g.27667969C>G		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	202	129	0.638614	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	CCDS6063.1																																																																																			C|0.567;G|0.433	0.433	strong		0.348	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		G	27667969	C	G	27667969	2	3	23	1	0	0	0	0	0	0	0	1	11488	523	19	4		4	PBK	8	27667969	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	339458	27667969	118696053	2139	18595										
PBK	55872	hgsc.bcm.edu	37	chr8	27685663	27685663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accccagtaccaaagccaagCttctgcataaacggagaggc	9	13	1	1	rs55973425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:27685663C>T	ENST00000301905.4	-	3	574	c.111G>A	c.(109-111)aaG>aaA	p.K37K	PBK_ENST00000522944.1_Silent_p.K37K	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CAAAGCCAAGCTTCTGCATAA	0.299													C|||	5	0.000998403	0.0008	0.0	5008	,	,		16110	0.0		0.004	False		,,,				2504	0.0				p.K37K		Atlas-SNP	.											.	PBK	29	.	0			c.G111A						PASS	.	C		7,4399	11.4+/-27.6	0,7,2196	64	70	68		111	4.9	1	8	dbSNP_129	68	27,8573	18.5+/-59.3	0,27,4273	no	coding-synonymous	PBK	NM_018492.2		0,34,6469	TT,TC,CC		0.314,0.1589,0.2614		37/323	27685663	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	55872	exon3			GCCAAGCTTCTGC	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.111G>A	8.37:g.27685663C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	CCDS6063.1																																																																																			C|0.998;T|0.002	0.002	strong		0.299	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		T	27685663	C	T	27685663	2	4	23	1	0	0	0	0	0	0	0	1	11488	796	28	2		2	PBK	8	27685663	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17694	27685663	118678359	2140	18596										
FBXO16	157574	hgsc.bcm.edu	37	chr8	28309958	28309958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaattgcttgtaactagttgAacgtcagcgattacaaatcc	8	8	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:28309958A>G	ENST00000380254.2	-	6	691	c.543T>C	c.(541-543)gtT>gtC	p.V181V	FBXO16_ENST00000346498.2_Silent_p.V169V|FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000518734.1_Silent_p.V169V|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	181										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TAACTAGTTGAACGTCAGCGA	0.428																																					p.V181V		Atlas-SNP	.											FBXO16_ENST00000380254,lower_third,carcinoma,-2,1	FBXO16	29	1	0			c.T543C						scavenged	.						71	75	74					8																	28309958		2203	4300	6503	SO:0001819	synonymous_variant	157574	exon6			TAGTTGAACGTCA	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.543T>C	8.37:g.28309958A>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	225	3	0.0133333	NM_172366	Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	ENST00000380254.2	37	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	A	0.326	-0.958961	0.02267	.	.	ENSG00000214050	ENST00000518248	.	.	.	5.49	0.443	0.16587	.	.	.	.	.	T	0.50837	0.1639	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.36553	-0.9743	4	.	.	.	-6.6615	4.9362	0.13941	0.4866:0.2783:0.2351:0.0	.	.	.	.	S	26	.	.	F	-	2	0	FBXO16	28365877	0.948000	0.32251	0.117000	0.21633	0.045000	0.14185	0.154000	0.16343	0.054000	0.16065	0.482000	0.46254	TTC	.	.	none		0.428	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		G	28309958	A	G	28309958	2	3	23	1	0	0	0	0	0	0	0	1	5729	233	9	2		2	FBXO16	8	28309958	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	624295	28309958	118054064	2141	18597										
WRN	7486	hgsc.bcm.edu	37	chr8	31024638	31024638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttaaacatggtcctgacagCggacttcaaccttcatgtga	8	11	2	2	rs1801196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:31024638C>T	ENST00000298139.5	+	34	4332	c.4083C>T	c.(4081-4083)agC>agT	p.S1361S	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1361					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)		GTCCTGACAGCGGACTTCAAC	0.398			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				C|||	1370	0.273562	0.2632	0.2536	5008	,	,		17102	0.2282		0.2942	False		,,,				2504	0.3272				p.S1361S	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.C4083T						PASS	.	C		1189,3217	417.2+/-337.8	157,875,1171	124	108	113		4083	2.9	0	8	dbSNP_89	113	2480,6120	407.5+/-349.2	370,1740,2190	no	coding-synonymous	WRN	NM_000553.4		527,2615,3361	TT,TC,CC		28.8372,26.9859,28.2101		1361/1433	31024638	3669,9337	2203	4300	6503	SO:0001819	synonymous_variant	7486	exon34	Familial Cancer Database	WS, Adult Progeria	TGACAGCGGACTT		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.4083C>T	8.37:g.31024638C>T		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	310	172	0.554839	NM_000553	A1KYY9	Silent	SNP	ENST00000298139.5	37	CCDS6082.1																																																																																			C|0.728;T|0.272	0.272	strong		0.398	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			T	31024638	C	T	31024638	2	4	23	1	0	0	0	0	0	0	0	1	17399	767	27	1		1	WRN	8	31024638	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2714680	31024638	115339384	2142	18598										
MAK16	84549	hgsc.bcm.edu	37	chr8	33356074	33356074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccttgagaggaccactgcAgagaaaacgagcctatgtgg	13	10	0	2	rs6468171	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:33356074A>G	ENST00000360128.6	+	10	1287	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	277			Q -> R (in dbSNP:rs6468171). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GGACCACTGCAGAGAAAACGA	0.483													A|||	2771	0.553315	0.6762	0.4914	5008	,	,		15259	0.4851		0.6322	False		,,,				2504	0.4202				p.Q277R		Atlas-SNP	.											.	MAK16	25	.	0			c.A830G						PASS	.	A	ARG/GLN	3005,1401	687.6+/-404.9	1028,949,226	77	78	78		830	-7.7	0	8	dbSNP_116	78	5362,3238	650.8+/-400.8	1667,2028,605	yes	missense	MAK16	NM_032509.3	43	2695,2977,831	GG,GA,AA		37.6512,31.7975,35.6682	benign	277/301	33356074	8367,4639	2203	4300	6503	SO:0001583	missense	84549	exon10			CACTGCAGAGAAA	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.830A>G	8.37:g.33356074A>G	ENSP00000353246:p.Gln277Arg	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	210	134	0.638095	NM_032509	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	1275	0.5837912087912088	338	0.6869918699186992	181	0.5	283	0.49475524475524474	473	0.6240105540897097	A	0.008	-1.880408	0.00537	0.682025	0.623488	ENSG00000198042	ENST00000360128	T	0.40225	1.04	5.5	-7.74	0.01241	.	0.671566	0.14962	N	0.288291	T	0.00012	0.0000	N	0.00642	-1.3	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	9	0.02654	T	1	1.1579	11.6164	0.51092	0.5923:0.0:0.3273:0.0804	rs6468171;rs56555602;rs60555743;rs6468171	277	Q9BXY0	MAK16_HUMAN	R	277	ENSP00000353246:Q277R	ENSP00000353246:Q277R	Q	+	2	0	MAK16	33475616	0.012000	0.17670	0.026000	0.17262	0.024000	0.10985	0.068000	0.14531	-1.724000	0.01373	-2.367000	0.00236	CAG	A|0.389;G|0.611	0.611	strong		0.483	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		G	33356074	A	G	33356074	3	3	23	1	0	0	0	0	1	0	0	0	9198	188	7	3	868	3	MAK16	8	33356074	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2331436	33356074	113007948	2143	18599										
C8orf41	80185	hgsc.bcm.edu	37	chr8	33369944	33369944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcaaataacctatcaaatTctgtggcttctattagatca	4	10	5	1	rs2304748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:33369944T>C	ENST00000431156.2	-	2	806	c.188A>G	c.(187-189)gAa>gGa	p.E63G	TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Missense_Mutation_p.E63G|TTI2_ENST00000520636.1_Missense_Mutation_p.E63G|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	63			E -> G (in dbSNP:rs2304748). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.														CCTATCAAATTCTGTGGCTTC	0.527													T|||	2538	0.506789	0.4463	0.4654	5008	,	,		16481	0.5556		0.6252	False		,,,				2504	0.4458				p.E63G		Atlas-SNP	.											C8orf41,NS,carcinoma,-1,1	.	.	1	0			c.A188G						PASS	.	T	GLY/GLU,GLY/GLU	2032,2374	563.2+/-381.1	479,1074,650	71	74	73		188,188	3.3	0	8	dbSNP_100	73	5312,3288	643.2+/-399.9	1639,2034,627	yes	missense,missense	TTI2	NM_001102401.1,NM_025115.2	98,98	2118,3108,1277	CC,CT,TT		38.2326,46.1189,43.5338	benign,benign	63/509,63/509	33369944	7344,5662	2203	4300	6503	SO:0001583	missense	80185	exon2			TCAAATTCTGTGG	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.188A>G	8.37:g.33369944T>C	ENSP00000411169:p.Glu63Gly	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	169	102	0.60355	NM_001265581	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	1176	0.5384615384615384	220	0.44715447154471544	171	0.4723756906077348	319	0.5576923076923077	466	0.6147757255936676	T	14.07	2.425243	0.43020	0.461189	0.617674	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397;ENST00000523305	T;T;T;T	0.59772	0.26;0.26;0.24;0.6	4.53	3.34	0.38264	.	0.258590	0.29822	N	0.011110	T	0.00012	0.0000	M	0.76838	2.35	0.58432	P	1.0000000000287557E-6	P;B;B	0.39809	0.689;0.437;0.437	B;B;B	0.34590	0.186;0.115;0.115	T	0.45977	-0.9224	9	0.52906	T	0.07	-14.6433	8.882	0.35380	0.0:0.0:0.1894:0.8106	rs2304748;rs17845116;rs17857909;rs52822961;rs59743233;rs2304748	63;63;63	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	G	63	ENSP00000353971:E63G;ENSP00000411169:E63G;ENSP00000428401:E63G;ENSP00000428569:E63G	ENSP00000353971:E63G	E	-	2	0	C8orf41	33489486	0.126000	0.22350	0.010000	0.14722	0.011000	0.07611	0.768000	0.26590	0.735000	0.32537	0.533000	0.62120	GAA	C|0.548;N|0.000	0.548	strong		0.527	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		C	33369944	T	C	33369944	3	2	23	1	0	0	0	0	1	0	0	0	2427	1783	62	2	1366	2	C8orf41	8	33369944	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	13870	33369944	112994078	2144	18600										
C8orf41	80185	hgsc.bcm.edu	37	chr8	33369994	33369994	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaagaactgcatcttttacAttgcctcgtcgtgcctccgg	8	12	1	1	rs3098657	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:33369994A>G	ENST00000431156.2	-	2	756	c.138T>C	c.(136-138)aaT>aaC	p.N46N	TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.N46N|TTI2_ENST00000520636.1_Silent_p.N46N|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	46																	CATCTTTTACATTGCCTCGTC	0.507													G|||	2899	0.578874	0.6702	0.4957	5008	,	,		17050	0.5565		0.6551	False		,,,				2504	0.4591				p.N46N		Atlas-SNP	.											.	.	.	.	0			c.T138C						PASS	.	G	,	2955,1451	468.9+/-355.3	999,957,247	72	73	73		138,138	0.2	0	8	dbSNP_103	73	5578,3022	463.9+/-366.1	1807,1964,529	yes	coding-synonymous,coding-synonymous	TTI2	NM_001102401.1,NM_025115.2	,	2806,2921,776	GG,GA,AA		35.1395,32.9324,34.3918	,	46/509,46/509	33369994	8533,4473	2203	4300	6503	SO:0001819	synonymous_variant	80185	exon2			TTTTACATTGCCT	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.138T>C	8.37:g.33369994A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	126	69	0.547619	NM_001265581	D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	CCDS6090.1																																																																																			A|0.369;G|0.631	0.631	strong		0.507	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		G	33369994	A	G	33369994	2	3	23	1	0	0	0	0	0	0	0	1	2427	214	8	2		2	C8orf41	8	33369994	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	50	33369994	112994028	2145	18601										
KCNU1	157855	hgsc.bcm.edu	37	chr8	36663795	36663795	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctatttcatagtttatggcAgctgatgacaagatcaagtt	8	6	3	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:36663795A>T	ENST00000399881.3	+	5	514	c.477A>T	c.(475-477)gcA>gcT	p.A159A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	159					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGTTTATGGCAGCTGATGACA	0.343																																					p.A159A		Atlas-SNP	.											KCNU1_ENST00000399881,NS,carcinoma,+2,2	KCNU1	359	2	0			c.A477T						scavenged	.						80	77	78					8																	36663795		1851	4103	5954	SO:0001819	synonymous_variant	157855	exon5			TATGGCAGCTGAT	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.477A>T	8.37:g.36663795A>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	181	2	0.0110497	NM_001031836		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																			.	.	none		0.343	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36663795	A	T	36663795	2	4	23	1	0	0	0	0	0	0	0	1	8093	175	7	5		5	KCNU1	8	36663795	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3293801	36663795	109700227	2146	18602										
KCNU1	157855	hgsc.bcm.edu	37	chr8	36788597	36788597	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatagctgcacgtcgctcttGtctggaagaaaccggtgtaa	12	9	2	1	rs190224798	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:36788597G>C	ENST00000399881.3	+	25	2902	c.2865G>C	c.(2863-2865)ttG>ttC	p.L955F	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	955					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CGTCGCTCTTGTCTGGAAGAA	0.443													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		17383	0.0		0.0	False		,,,				2504	0.001				p.L955F		Atlas-SNP	.											.	KCNU1	359	.	0			c.G2865C						PASS	.	G	PHE/LEU	4,3820		0,4,1908	137	131	133		2865	0.5	0	8		133	18,8248		0,18,4115	yes	missense	KCNU1	NM_001031836.2	22	0,22,6023	CC,CG,GG		0.2178,0.1046,0.182	possibly-damaging	955/1150	36788597	22,12068	1912	4133	6045	SO:0001583	missense	157855	exon25			GCTCTTGTCTGGA	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2865G>C	8.37:g.36788597G>C	ENSP00000382770:p.Leu955Phe	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	218	61	0.279817	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.00	1.510137	0.27036	0.001046	0.002178	ENSG00000215262	ENST00000399881	T	0.39229	1.09	5.41	0.468	0.16732	.	2.385820	0.03106	U	0.161774	T	0.44705	0.1306	M	0.73962	2.25	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.34453	-0.9828	10	0.87932	D	0	0.6019	4.979	0.14155	0.0865:0.1259:0.6256:0.162	.	955	A8MYU2	KCNU1_HUMAN	F	955	ENSP00000382770:L955F	ENSP00000382770:L955F	L	+	3	2	KCNU1	36907755	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.833000	0.27504	-0.142000	0.11354	0.650000	0.86243	TTG	G|1.000;C|0.000	0.000	strong		0.443	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		C	36788597	G	C	36788597	3	2	23	1	0	0	0	0	1	0	0	0	8093	1368	48	4	2963	4	KCNU1	8	36788597	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	124802	36788597	109575425	2147	18603										
IDO2	169355	hgsc.bcm.edu	37	chr8	39872804	39872804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagggattacatgcctcctTcccataaggccttcatagaa	8	11	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:39872804T>C	ENST00000389060.4	+	10	907	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	IDO2_ENST00000502986.2_Missense_Mutation_p.S316P|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	303					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CATGCCTCCTTCCCATAAGGC	0.468																																					p.S316P		Atlas-SNP	.											IDO2_ENST00000502986,NS,malignant_melanoma,-1,4	IDO2	78	4	0			c.T946C						scavenged	.						89	83	85					8																	39872804		1991	4173	6164	SO:0001583	missense	169355	exon11			CCTCCTTCCCATA	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.907T>C	8.37:g.39872804T>C	ENSP00000426447:p.Ser303Pro	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	191	4	0.0209424	NM_194294	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	T	13.08	2.128953	0.37533	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.41065	1.01;1.01	5.91	4.77	0.60923	.	0.436819	0.26586	N	0.023544	T	0.19485	0.0468	N	0.05534	-0.03	0.26758	N	0.970062	B;B	0.19445	0.028;0.036	B;B	0.24541	0.018;0.054	T	0.11616	-1.0580	9	.	.	.	.	4.9099	0.13816	0.0:0.1355:0.3128:0.5517	.	316;303	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	P	316;303	ENSP00000443432:S316P;ENSP00000426447:S303P	.	S	+	1	0	IDO2	39991961	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.430000	0.21428	2.252000	0.74401	0.533000	0.62120	TCC	.	.	none		0.468	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		C	39872804	T	C	39872804	3	2	23	1	0	0	0	0	1	0	0	0	7502	1783	62	2	988	2	IDO2	8	39872804	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3084207	39872804	106491218	2148	18604										
ANK1	286	hgsc.bcm.edu	37	chr8	41553928	41553928	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgctatgatcctgctggcCaggccctcctcctcggccag	11	16	0	1	rs504574	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:41553928C>G	ENST00000347528.4	-	26	2996	c.2913G>C	c.(2911-2913)ctG>ctC	p.L971L	ANK1_ENST00000379758.2_Silent_p.L971L|ANK1_ENST00000289734.7_Silent_p.L971L|ANK1_ENST00000352337.4_Silent_p.L971L|ANK1_ENST00000396945.1_Silent_p.L971L|ANK1_ENST00000265709.8_Silent_p.L1012L|ANK1_ENST00000396942.1_Silent_p.L971L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	971	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTGCTGGCCAGGCCCTCCT	0.716													C|||	2039	0.407149	0.1082	0.5461	5008	,	,		16503	0.5079		0.494	False		,,,				2504	0.5194				p.L1012L		Atlas-SNP	.											ANK1_ENST00000265709,NS,carcinoma,0,4	ANK1	497	4	0			c.G3036C						PASS	.	C	,,,,	646,3758		49,548,1605	34	37	36		2913,3036,2913,2913,2913	2.7	1	8	dbSNP_83	36	4071,4525		973,2125,1200	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	1022,2673,2805	GG,GC,CC		47.3592,14.6685,36.2846	,,,,	971/1881,1012/1898,971/1857,971/1882,971/1720	41553928	4717,8283	2202	4298	6500	SO:0001819	synonymous_variant	286	exon27			GCTGGCCAGGCCC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2913G>C	8.37:g.41553928C>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	96	59	0.614583	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	908	0.4157509157509158	54	0.10975609756097561	191	0.5276243093922652	281	0.49125874125874125	382	0.503957783641161	C	9.971	1.225504	0.22457	0.146685	0.473592	ENSG00000029534	ENST00000520299	.	.	.	5.53	2.7	0.31948	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.48833	-0.9000	3	.	.	.	.	7.5449	0.27761	0.1353:0.72:0.0:0.1447	rs504574;rs504574	.	.	.	R	293	.	.	G	-	1	0	ANK1	41673085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.076000	0.41548	0.267000	0.21916	0.561000	0.74099	GGC	C|0.627;G|0.373	0.373	strong		0.716	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		G	41553928	C	G	41553928	2	3	23	1	0	0	0	0	0	0	0	1	620	581	21	4		4	ANK1	8	41553928	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1681124	41553928	104810094	2149	18605										
ANK1	286	hgsc.bcm.edu	37	chr8	41559609	41559609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgacgaccttgagcacgtcGgtgacagaaatgtagcccaa	12	10	0	4	rs2304880	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:41559609G>A	ENST00000347528.4	-	21	2432	c.2349C>T	c.(2347-2349)acC>acT	p.T783T	ANK1_ENST00000379758.2_Silent_p.T783T|ANK1_ENST00000289734.7_Silent_p.T783T|ANK1_ENST00000352337.4_Silent_p.T783T|ANK1_ENST00000396945.1_Silent_p.T783T|ANK1_ENST00000265709.8_Silent_p.T816T|ANK1_ENST00000396942.1_Silent_p.T783T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	783	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGCACGTCGGTGACAGAAA	0.607											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	905	0.180711	0.0159	0.2954	5008	,	,		18368	0.0794		0.2843	False		,,,				2504	0.32				p.T816T		Atlas-SNP	.											.	ANK1	497	.	0			c.C2448T						PASS	.	G	,,,,	250,4156	145.4+/-180.2	7,236,1960	122	110	114		2349,2448,2349,2349,2349	-3	0.7	8	dbSNP_100	114	2302,6298	387.0+/-342.0	319,1664,2317	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	326,1900,4277	AA,AG,GG		26.7674,5.6741,19.6217	,,,,	783/1881,816/1898,783/1857,783/1882,783/1720	41559609	2552,10454	2203	4300	6503	SO:0001819	synonymous_variant	286	exon21			CACGTCGGTGACA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2349C>T	8.37:g.41559609G>A		Somatic	120	0	0	902	WXS	Illumina HiSeq	Phase_I	128	73	0.570312	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	370	0.16941391941391942	11	0.022357723577235773	100	0.27624309392265195	37	0.06468531468531469	222	0.2928759894459103	G	1.954	-0.440462	0.04636	0.056741	0.267674	ENSG00000029534	ENST00000520299	.	.	.	5.96	-2.95	0.05564	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0165	0.06061	0.0902:0.1696:0.3084:0.4317	rs2304880;rs2304880	.	.	.	X	97	.	.	R	-	1	2	ANK1	41678766	0.006000	0.16342	0.704000	0.30370	0.001000	0.01503	-1.166000	0.03129	-0.110000	0.12022	-0.885000	0.02943	CGA	G|0.820;A|0.180	0.180	strong		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41559609	G	A	41559609	2	1	23	1	0	0	0	0	0	0	0	1	620	1103	39	1		1	ANK1	8	41559609	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5681	41559609	104804413	2150	18606										
ANK1	286	hgsc.bcm.edu	37	chr8	41563685	41563685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggtggcgtccaccatgacGccgtgtttgatcagcacatc	12	12	1	2	rs1137177	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:41563685G>A	ENST00000347528.4	-	18	2156	c.2073C>T	c.(2071-2073)ggC>ggT	p.G691G	ANK1_ENST00000379758.2_Silent_p.G691G|ANK1_ENST00000289734.7_Silent_p.G691G|ANK1_ENST00000352337.4_Silent_p.G691G|ANK1_ENST00000396945.1_Silent_p.G691G|ANK1_ENST00000265709.8_Silent_p.G724G|ANK1_ENST00000396942.1_Silent_p.G691G	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	691	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACCATGACGCCGTGTTTGA	0.542													G|||	906	0.180911	0.0159	0.2954	5008	,	,		17858	0.0794		0.2823	False		,,,				2504	0.3231				p.G724G		Atlas-SNP	.											.	ANK1	497	.	0			c.C2172T						PASS	.	G	,,,,	250,4156	145.4+/-180.2	7,236,1960	82	73	76		2073,2172,2073,2073,2073	-10.6	0	8	dbSNP_86	76	2304,6296	387.5+/-342.2	320,1664,2316	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	327,1900,4276	AA,AG,GG		26.7907,5.6741,19.6371	,,,,	691/1881,724/1898,691/1857,691/1882,691/1720	41563685	2554,10452	2203	4300	6503	SO:0001819	synonymous_variant	286	exon18			CATGACGCCGTGT	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2073C>T	8.37:g.41563685G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	111	76	0.684685	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	369	0.16895604395604397	11	0.022357723577235773	100	0.27624309392265195	37	0.06468531468531469	221	0.29155672823219	G	0.494	-0.874159	0.02550	0.056741	0.267907	ENSG00000029534	ENST00000520299	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999952	.	.	.	.	.	.	T	0.17228	-1.0376	3	.	.	.	.	1.3955	0.02260	0.2645:0.2406:0.3132:0.1818	rs1137177;rs2304878;rs3200981;rs17424473;rs17602822;rs1137177	.	.	.	C	5	.	.	R	-	1	0	ANK1	41682842	0.002000	0.14202	0.002000	0.10522	0.035000	0.12851	-1.576000	0.02129	-3.094000	0.00246	-1.075000	0.02238	CGT	G|0.832;N|0.000	.	strong		0.542	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41563685	G	A	41563685	2	1	23	1	0	0	0	0	0	0	0	1	620	1074	38	1		1	ANK1	8	41563685	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4076	41563685	104800337	2151	18607										
ANK1	286	hgsc.bcm.edu	37	chr8	41583294	41583294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaccttggaaagcacgtcCgggttggggtcgttctgcag	14	11	2	0	rs2304873	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:41583294C>T	ENST00000347528.4	-	6	680	c.597G>A	c.(595-597)ccG>ccA	p.P199P	ANK1_ENST00000379758.2_Silent_p.P199P|ANK1_ENST00000289734.7_Silent_p.P199P|ANK1_ENST00000352337.4_Silent_p.P199P|ANK1_ENST00000396945.1_Silent_p.P199P|ANK1_ENST00000265709.8_Silent_p.P232P|ANK1_ENST00000396942.1_Silent_p.P199P	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	199	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAAGCACGTCCGGGTTGGGGT	0.726													C|||	526	0.105032	0.0151	0.0893	5008	,	,		16267	0.1577		0.1213	False		,,,				2504	0.1667				p.P232P		Atlas-SNP	.											.	ANK1	497	.	0			c.G696A						PASS	.	C	,,,,	151,4251	95.7+/-134.4	2,147,2052	61	38	46		597,696,597,597,597	-11.8	0.2	8	dbSNP_100	46	1176,7422	226.2+/-262.0	85,1006,3208	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	87,1153,5260	TT,TC,CC		13.6776,3.4303,10.2077	,,,,	199/1881,232/1898,199/1857,199/1882,199/1720	41583294	1327,11673	2201	4299	6500	SO:0001819	synonymous_variant	286	exon6			CACGTCCGGGTTG	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.597G>A	8.37:g.41583294C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	27	9	0.333333	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																			C|0.900;T|0.100	0.100	strong		0.726	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41583294	C	T	41583294	2	4	23	1	0	0	0	0	0	0	0	1	620	639	23	1		1	ANK1	8	41583294	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19609	41583294	104780728	2152	18608										
PLAT	5327	hgsc.bcm.edu	37	chr8	42044965	42044965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgatggcgtctggcctccGcccgctgtagggcttctggg	15	14	2	1	rs2020921	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:42044965G>A	ENST00000220809.4	-	6	746	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	PLAT_ENST00000352041.3_Missense_Mutation_p.R118W|PLAT_ENST00000429089.2_Missense_Mutation_p.R164W|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.R164W|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	164	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.		R -> W (in dbSNP:rs2020921). {ECO:0000269|Ref.12}.		blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TCTGGCCTCCGCCCGCTGTAG	0.652													G|||	34	0.00678914	0.0038	0.0029	5008	,	,		20354	0.0		0.0229	False		,,,				2504	0.0041				p.R164W		Atlas-SNP	.											PLAT,NS,carcinoma,+1,1	PLAT	62	1	0			c.C490T						PASS	.	G	TRP/ARG,TRP/ARG	22,4384	29.0+/-57.7	0,22,2181	43	42	43		490,352	1.9	0.3	8	dbSNP_94	43	191,8409	83.4+/-145.9	2,187,4111	yes	missense,missense	PLAT	NM_000930.3,NM_033011.2	101,101	2,209,6292	AA,AG,GG		2.2209,0.4993,1.6377	benign,benign	164/563,118/517	42044965	213,12793	2203	4300	6503	SO:0001583	missense	5327	exon6			GCCTCCGCCCGCT		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.490C>T	8.37:g.42044965G>A	ENSP00000220809:p.Arg164Trp	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	60	35	0.583333	NM_000930	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	20	0.009157509157509158	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	15	0.01978891820580475	G	11.06	1.529003	0.27387	0.004993	0.022209	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.95	1.92	0.25849	Kringle (4);Kringle-like fold (1);	0.147675	0.64402	N	0.000015	T	0.33614	0.0869	L	0.35288	1.05	0.34497	D	0.705653	B;B;B	0.24920	0.114;0.036;0.037	B;B;B	0.24848	0.035;0.021;0.056	T	0.47169	-0.9138	10	0.51188	T	0.08	.	5.6142	0.17422	0.0641:0.1146:0.4484:0.3729	rs2020921;rs2020921	164;118;164	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	W	164;164;164;118;164	ENSP00000270189:R164W;ENSP00000392045:R164W;ENSP00000220809:R164W;ENSP00000270188:R118W;ENSP00000428797:R164W	ENSP00000220809:R164W	R	-	1	2	PLAT	42164122	0.009000	0.17119	0.283000	0.24790	0.227000	0.25037	1.460000	0.35244	0.376000	0.24707	0.655000	0.94253	CGG	G|0.987;A|0.013	0.013	strong		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		A	42044965	G	A	42044965	3	1	23	1	0	0	0	0	1	0	0	0	12021	1086	38	1	1234	1	PLAT	8	42044965	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	461671	42044965	104319057	2153	18609										
IKBKB	3551	hgsc.bcm.edu	37	chr8	42174380	42174380	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaagcgggcctggcgttGatccccgataagcctgccac	13	14	0	1	rs56230731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:42174380G>A	ENST00000520810.1	+	11	1269	c.1083G>A	c.(1081-1083)ttG>ttA	p.L361L	IKBKB_ENST00000416505.2_Silent_p.L302L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.L138L|IKBKB_ENST00000520835.1_Silent_p.L359L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	361					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCCTGGCGTTGATCCCCGATA	0.582													G|||	19	0.00379393	0.0008	0.0014	5008	,	,		17740	0.0		0.0169	False		,,,				2504	0.0				p.L361L		Atlas-SNP	.											.	IKBKB	88	.	0			c.G1083A						PASS	.	G	,,	14,4392	21.2+/-45.6	0,14,2189	82	76	78		1077,906,1083	4.6	1	8	dbSNP_129	78	128,8472	65.6+/-127.9	1,126,4173	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	1,140,6362	AA,AG,GG		1.4884,0.3177,1.0918	,,	359/755,302/698,361/757	42174380	142,12864	2203	4300	6503	SO:0001819	synonymous_variant	3551	exon11			GGCGTTGATCCCC	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1083G>A	8.37:g.42174380G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	115	37	0.321739	NM_001556	B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	CCDS6128.1																																																																																			G|0.991;A|0.009	0.009	strong		0.582	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42174380	G	A	42174380	2	1	23	1	0	0	0	0	0	0	0	1	7611	1281	45	2		2	IKBKB	8	42174380	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	129415	42174380	104189642	2154	18610										
C8orf22	492307	hgsc.bcm.edu	37	chr8	49987801	49987801	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccttatgtagcatgaacAgttgattctgacaatcaaga	8	8	2	4	rs72641628	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:49987801A>G	ENST00000303202.8	+	0	1139				C8orf22_ENST00000522267.1_3'UTR|C8orf22_ENST00000399653.4_Missense_Mutation_p.S81G|C8orf22_ENST00000517663.1_3'UTR	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGCATGAACAGTTGATTCTG	0.468													A|||	43	0.00858626	0.0	0.0086	5008	,	,		17149	0.0		0.0328	False		,,,				2504	0.0041				p.S81G		Atlas-SNP	.											.	C8orf22	20	.	0			c.A241G						PASS	.	A	GLY/SER	24,4014		0,24,1995	183	177	179		241	2.3	0	8	dbSNP_130	179	204,8170		5,194,3988	yes	missense	C8orf22	NM_001007176.3	56	5,218,5983	GG,GA,AA		2.4361,0.5944,1.8369	benign	81/82	49987801	228,12184	2019	4187	6206	SO:0001624	3_prime_UTR_variant	492307	exon5			ATGAACAGTTGAT	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.*711A>G	8.37:g.49987801A>G		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	313	115	0.367412	NM_001007176	G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	CCDS59101.1	31	0.014194139194139194	0	0.0	4	0.011049723756906077	0	0.0	27	0.03562005277044855	A	11.78	1.741160	0.30865	0.005944	0.024361	ENSG00000168333	ENST00000399653	.	.	.	3.53	2.29	0.28610	.	.	.	.	.	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.24269	0.052	T	0.12192	-1.0557	6	.	.	.	.	6.1636	0.20378	0.7409:0.0:0.0:0.2591	.	81	Q8WWR9-2	.	G	81	.	.	S	+	1	0	C8orf22	50150354	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.597000	0.24059	0.461000	0.27071	0.533000	0.62120	AGT	A|0.985;G|0.015	0.015	strong		0.468	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		G	49987801	A	G	49987801	1	3	23	0	1	0	0	0	0	0	0	0	2419	188	7	3		3	C8orf22	8	49987801	3'UTR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7813421	49987801	96376221	2155	18611										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733127	52733127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacccacaaatacgtaagtGttaattctctgtttaactct	4	9	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:52733127G>A	ENST00000360540.5	-	7	1264	c.858C>T	c.(856-858)aaC>aaT	p.N286N	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.N286N|PCMTD1_ENST00000544451.1_Silent_p.N210N	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	286						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATACGTAAGTGTTAATTCTCT	0.398																																					p.N286N		Atlas-SNP	.											.	PCMTD1	73	.	0			c.C858T						PASS	.						189	188	188					8																	52733127		2203	4300	6503	SO:0001819	synonymous_variant	115294	exon6			GTAAGTGTTAATT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.858C>T	8.37:g.52733127G>A		Somatic	400	0	0		WXS	Illumina HiSeq	Phase_I	518	28	0.0540541	NM_052937	Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																			.	.	none		0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733127	G	A	52733127	2	1	23	1	0	0	0	0	0	0	0	1	11586	1368	48	2		2	PCMTD1	8	52733127	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2745326	52733127	93630895	2156	18612										
RP1	6101	hgsc.bcm.edu	37	chr8	55539395	55539395	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccggtttgacaggagatAatctatgtaaagagggagat	13	4	1	4	rs2293869	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:55539395A>T	ENST00000220676.1	+	4	3101	c.2953A>T	c.(2953-2955)Aat>Tat	p.N985Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	985			N -> Y (associated with susceptibility to hypertriglyceridemia; dbSNP:rs2293869). {ECO:0000269|PubMed:10391212, ECO:0000269|PubMed:11095597, ECO:0000269|PubMed:11527933, ECO:0000269|PubMed:20664799}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACAGGAGATAATCTATGTAA	0.353													A|||	1252	0.25	0.1952	0.2522	5008	,	,		19567	0.0675		0.4264	False		,,,				2504	0.3292				p.N985Y	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											.	RP1	429	.	0			c.A2953T	GRCh37	CM035763	RP1	M	rs2293869	PASS	.	A	TYR/ASN	944,3462	356.1+/-313.4	107,730,1366	128	137	134	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2953	1.9	0	8	dbSNP_100	134	3584,5016	516.2+/-378.8	719,2146,1435	yes	missense	RP1	NM_006269.1	143	826,2876,2801	TT,TA,AA		41.6744,21.4253,34.8147	possibly-damaging	985/2157	55539395	4528,8478	2203	4300	6503	SO:0001583	missense	6101	exon4			GGAGATAATCTAT	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2953A>T	8.37:g.55539395A>T	ENSP00000220676:p.Asn985Tyr	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	48	34	0.708333	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	569	0.26053113553113555	91	0.18495934959349594	108	0.2983425414364641	43	0.07517482517482517	327	0.4313984168865435	A	10.45	1.354246	0.24512	0.214253	0.416744	ENSG00000104237	ENST00000220676	T	0.56444	0.46	5.62	1.94	0.25998	.	0.392400	0.24447	N	0.038456	T	0.00012	0.0000	M	0.64997	1.995	0.80722	P	0.0	D	0.57899	0.981	P	0.57371	0.819	T	0.39210	-0.9625	9	0.87932	D	0	.	5.9509	0.19246	0.6673:0.1275:0.2052:0.0	rs2293869;rs52800054;rs2293869	985	P56715	RP1_HUMAN	Y	985	ENSP00000220676:N985Y	ENSP00000220676:N985Y	N	+	1	0	RP1	55701948	0.054000	0.20591	0.004000	0.12327	0.148000	0.21650	1.592000	0.36676	0.093000	0.17368	0.533000	0.62120	AAT	A|0.687;T|0.313	0.313	strong		0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55539395	A	T	55539395	3	4	23	1	0	0	0	0	1	0	0	0	13532	362	13	5	2963	5	RP1	8	55539395	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2806268	55539395	90824627	2157	18613										
RP1	6101	hgsc.bcm.edu	37	chr8	55541738	55541738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaatcctggcatgtgtggcAatgcagacaccacatcagtg	10	10	1	1	rs147009600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:55541738A>C	ENST00000220676.1	+	4	5444	c.5296A>C	c.(5296-5298)Aat>Cat	p.N1766H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1766					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATGTGTGGCAATGCAGACAC	0.438													A|||	2	0.000399361	0.0	0.0	5008	,	,		23417	0.0		0.0	False		,,,				2504	0.002				p.N1766H	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											.	RP1	429	.	0			c.A5296C						PASS	.	A	HIS/ASN	0,4406		0,0,2203	95	92	93		5296	3.5	0.9	8	dbSNP_134	93	6,8594	5.0+/-18.6	0,6,4294	yes	missense	RP1	NM_006269.1	68	0,6,6497	CC,CA,AA		0.0698,0.0,0.0461	benign	1766/2157	55541738	6,13000	2203	4300	6503	SO:0001583	missense	6101	exon4			TGTGGCAATGCAG	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5296A>C	8.37:g.55541738A>C	ENSP00000220676:p.Asn1766His	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	100	15	0.15	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	8.388	0.839077	0.16891	0.0	6.98E-4	ENSG00000104237	ENST00000220676	T	0.47177	0.85	5.93	3.47	0.39725	.	0.241833	0.28977	N	0.013529	T	0.35941	0.0949	L	0.33485	1.01	0.26317	N	0.977733	B	0.18461	0.028	B	0.15870	0.014	T	0.16041	-1.0416	10	0.30078	T	0.28	.	12.782	0.57483	0.6029:0.397:0.0:0.0	.	1766	P56715	RP1_HUMAN	H	1766	ENSP00000220676:N1766H	ENSP00000220676:N1766H	N	+	1	0	RP1	55704291	0.998000	0.40836	0.854000	0.33618	0.698000	0.40448	3.291000	0.51764	0.454000	0.26884	0.533000	0.62120	AAT	A|0.999;C|0.001	0.001	strong		0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		C	55541738	A	C	55541738	3	2	23	1	0	0	0	0	1	0	0	0	13532	130	5	5	5306	5	RP1	8	55541738	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2343	55541738	90822284	2158	18614										
RP1	6101	hgsc.bcm.edu	37	chr8	55542540	55542540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatttgaaggaaaggttttGtatgaatttcttgcacacat	9	4	1	3	rs61739567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:55542540G>A	ENST00000220676.1	+	4	6246	c.6098G>A	c.(6097-6099)tGt>tAt	p.C2033Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2033			C -> Y (in dbSNP:rs61739567). {ECO:0000269|PubMed:10391212, ECO:0000269|PubMed:11527933, ECO:0000269|PubMed:20664799}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGGTTTTGTATGAATTTC	0.338													G|||	1080	0.215655	0.0696	0.245	5008	,	,		18653	0.0675		0.4264	False		,,,				2504	0.3282				p.C2033Y	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											.	RP1	429	.	0			c.G6098A						PASS	.	G	TYR/CYS	516,3888	233.6+/-246.7	35,446,1721	83	87	86		6098	0.4	0	8	dbSNP_129	86	3577,5023	515.5+/-378.6	716,2145,1439	yes	missense	RP1	NM_006269.1	194	751,2591,3160	AA,AG,GG		41.593,11.7166,31.4749	benign	2033/2157	55542540	4093,8911	2202	4300	6502	SO:0001583	missense	6101	exon4			GGTTTTGTATGAA	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6098G>A	8.37:g.55542540G>A	ENSP00000220676:p.Cys2033Tyr	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	94	74	0.787234	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	516	0.23626373626373626	41	0.08333333333333333	105	0.2900552486187845	43	0.07517482517482517	327	0.4313984168865435	G	0.001	-3.520656	0.00010	0.117166	0.41593	ENSG00000104237	ENST00000220676	T	0.18960	2.18	5.25	0.404	0.16355	.	0.555464	0.16627	N	0.206202	T	0.00012	0.0000	L	0.28274	0.84	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.46289	-0.9202	9	0.02654	T	1	.	0.7012	0.00908	0.2659:0.3374:0.2093:0.1874	rs61739567	2033	P56715	RP1_HUMAN	Y	2033	ENSP00000220676:C2033Y	ENSP00000220676:C2033Y	C	+	2	0	RP1	55705093	0.493000	0.26035	0.014000	0.15608	0.012000	0.07955	-0.012000	0.12699	0.153000	0.19213	0.591000	0.81541	TGT	A|0.295;G|0.705	0.295	strong		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55542540	G	A	55542540	3	1	23	1	0	0	0	0	1	0	0	0	13532	1377	48	2	6108	2	RP1	8	55542540	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	802	55542540	90821482	2159	18615										
TGS1	96764	hgsc.bcm.edu	37	chr8	56698801	56698801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatttatctgatataggtatCtatgaatactagaaataaag	6	3	2	3	rs76064957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:56698801C>T	ENST00000260129.5	+	4	821	c.344C>T	c.(343-345)tCt>tTt	p.S115F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	115					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATATAGGTATCTATGAATACT	0.219													C|||	16	0.00319489	0.0008	0.0029	5008	,	,		15987	0.0		0.0129	False		,,,				2504	0.0				p.S115F	Esophageal Squamous(34;275 823 4842 34837 48447)	Atlas-SNP	.											.	TGS1	66	.	0			c.C344T						PASS	.	C	PHE/SER	9,3903		0,9,1947	7	7	7		344	3.9	0.8	8	dbSNP_133	7	89,8121		1,87,4017	yes	missense	TGS1	NM_024831.6	155	1,96,5964	TT,TC,CC		1.084,0.2301,0.8084	possibly-damaging	115/854	56698801	98,12024	1956	4105	6061	SO:0001583	missense	96764	exon4			AGGTATCTATGAA	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.344C>T	8.37:g.56698801C>T	ENSP00000260129:p.Ser115Phe	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	34	19	0.558824	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	14	0.00641025641025641	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	11	0.014511873350923483	C	15.71	2.914765	0.52546	0.002301	0.01084	ENSG00000137574	ENST00000260129	T	0.17691	2.26	5.69	3.87	0.44632	.	0.827624	0.10980	N	0.612788	T	0.28632	0.0709	M	0.72479	2.2	0.26676	N	0.971621	D;D	0.71674	0.998;0.998	D;D	0.65573	0.921;0.936	T	0.10894	-1.0610	10	0.72032	D	0.01	-3.8428	6.7135	0.23290	0.0:0.6958:0.1484:0.1557	.	115;115	B2RBJ7;Q96RS0	.;TGS1_HUMAN	F	115	ENSP00000260129:S115F	ENSP00000260129:S115F	S	+	2	0	TGS1	56861355	0.840000	0.29493	0.793000	0.32043	0.913000	0.54294	2.008000	0.40893	0.732000	0.32470	0.655000	0.94253	TCT	C|0.992;T|0.008	0.008	strong		0.219	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		T	56698801	C	T	56698801	3	4	23	1	0	0	0	0	1	0	0	0	15834	913	32	2	358	2	TGS1	8	56698801	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1156261	56698801	89665221	2160	18616										
IMPAD1	54928	hgsc.bcm.edu	37	chr8	57906042	57906042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggccgaagaggctgaagcGgccggccaagaagcccgagt	16	12	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:57906042G>A	ENST00000262644.4	-	1	361	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	35					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGGCTGAAGCGGCCGGCCAAG	0.741																																					p.R35C		Atlas-SNP	.											.	IMPAD1	27	.	0			c.C103T						PASS	.						2	2	2					8																	57906042		1082	2103	3185	SO:0001583	missense	54928	exon1			TGAAGCGGCCGGC		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.103C>T	8.37:g.57906042G>A	ENSP00000262644:p.Arg35Cys	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	8	6	0.75	NM_017813	Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915816	0.52546	.	.	ENSG00000104331	ENST00000262644	T	0.52983	0.64	5.05	4.17	0.49024	.	0.059812	0.64402	D	0.000007	T	0.36771	0.0979	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.24512	-1.0158	10	0.72032	D	0.01	-34.6783	7.4777	0.27387	0.0852:0.0:0.7506:0.1642	.	35	Q9NX62	IMPA3_HUMAN	C	35	ENSP00000262644:R35C	ENSP00000262644:R35C	R	-	1	0	IMPAD1	58068596	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	2.643000	0.46604	1.123000	0.41961	-0.266000	0.10368	CGC	.	.	none		0.741	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		A	57906042	G	A	57906042	3	1	23	1	0	0	0	0	1	0	0	0	7725	1116	39	1	996	1	IMPAD1	8	57906042	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1207241	57906042	88457980	2161	18617										
CHD7	55636	hgsc.bcm.edu	37	chr8	61765419	61765419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcctccataattgagccGatcacagaggagcgagcctc	9	14	2	2	rs6999971	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:61765419G>A	ENST00000423902.2	+	31	6614	c.6135G>A	c.(6133-6135)ccG>ccA	p.P2045P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2045					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TAATTGAGCCGATCACAGAGG	0.517													G|||	79	0.0157748	0.0061	0.0187	5008	,	,		17725	0.0		0.0487	False		,,,				2504	0.0092				p.P2045P		Atlas-SNP	.											.	CHD7	534	.	0			c.G6135A						PASS	.	G		26,3774		0,26,1874	104	107	106		6135	-7.4	0.6	8	dbSNP_116	106	315,7921		10,295,3813	no	coding-synonymous	CHD7	NM_017780.3		10,321,5687	AA,AG,GG		3.8247,0.6842,2.8332		2045/2998	61765419	341,11695	1900	4118	6018	SO:0001819	synonymous_variant	55636	exon31			TGAGCCGATCACA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6135G>A	8.37:g.61765419G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	25	23	0.92	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																			G|0.976;A|0.024	0.024	strong		0.517	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61765419	G	A	61765419	2	1	23	1	0	0	0	0	0	0	0	1	3330	1045	37	1		1	CHD7	8	61765419	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3859377	61765419	84598603	2162	18618										
CLVS1	157807	hgsc.bcm.edu	37	chr8	62370916	62370916	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcaccagctaatacacccTgaatttttgccctctgaatt	4	13	2	2	rs72657068	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:62370916T>G	ENST00000519846.1	+	6	1264	c.792T>G	c.(790-792)ccT>ccG	p.P264P	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Silent_p.P264P			Q8IUQ0	CLVS1_HUMAN	clavesin 1	264	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAATACACCCTGAATTTTTGC	0.408													T|||	8	0.00159744	0.0	0.0029	5008	,	,		18914	0.0		0.002	False		,,,				2504	0.0041				p.P264P		Atlas-SNP	.											.	CLVS1	74	.	0			c.T792G						PASS	.	T		0,4406		0,0,2203	128	121	123		792	0	1	8	dbSNP_130	123	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous	CLVS1	NM_173519.2		0,28,6475	GG,GT,TT		0.3256,0.0,0.2153		264/355	62370916	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	157807	exon5			ACACCCTGAATTT	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.792T>G	8.37:g.62370916T>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	24	8	0.333333	NM_173519	B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																			T|0.998;G|0.002	0.002	strong		0.408	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		G	62370916	T	G	62370916	2	3	23	1	0	0	0	0	0	0	0	1	3571	1567	55	5		5	CLVS1	8	62370916	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	605497	62370916	83993106	2163	18619										
NKAIN3	286183	hgsc.bcm.edu	37	chr8	63659635	63659635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctgtcacaggctgcatcGttgacttccagtacctggag	10	12	2	1	rs4739003	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:63659635G>A	ENST00000523211.1	+	4	550	c.418G>A	c.(418-420)Gtt>Att	p.V140I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V140I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	140			V -> I (in dbSNP:rs4739003).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				AGGCTGCATCGTTGACTTCCA	0.488													G|||	1180	0.235623	0.2519	0.2104	5008	,	,		20558	0.3304		0.1421	False		,,,				2504	0.2301				p.V140I		Atlas-SNP	.											.	NKAIN3	32	.	0			c.G418A						PASS	.	G	ILE/VAL	784,3352		79,626,1363	117	118	118		418	2.3	0.3	8	dbSNP_111	118	1090,7344		69,952,3196	yes	missense	NKAIN3	NM_173688.2	29	148,1578,4559	AA,AG,GG		12.9239,18.9555,14.9085	benign	140/198	63659635	1874,10696	2068	4217	6285	SO:0001583	missense	286183	exon4			TGCATCGTTGACT	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.418G>A	8.37:g.63659635G>A	ENSP00000429073:p.Val140Ile	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	73	13	0.178082	NM_173688		Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	504	0.23076923076923078	129	0.2621951219512195	70	0.19337016574585636	193	0.3374125874125874	112	0.14775725593667546	G	13.69	2.311959	0.40895	0.189555	0.129239	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.12879	2.64;2.64	5.49	2.28	0.28536	.	0.355782	0.26492	N	0.024075	T	0.00012	0.0000	N	0.13235	0.315	0.58432	P	4.000000000004E-6	B	0.14012	0.009	B	0.10450	0.005	T	0.47911	-0.9080	9	0.41790	T	0.15	-15.1687	6.993	0.24765	0.4394:0.0:0.5606:0.0	rs4739003;rs59573623;rs4739003	140	Q8N8D7	NKAI3_HUMAN	I	140	ENSP00000429073:V140I;ENSP00000333627:V140I	ENSP00000333627:V140I	V	+	1	0	NKAIN3	63822189	0.182000	0.23173	0.265000	0.24526	0.954000	0.61252	0.641000	0.24720	0.698000	0.31739	0.650000	0.86243	GTT	G|0.768;A|0.231	0.231	strong		0.488	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		A	63659635	G	A	63659635	3	1	23	1	0	0	0	0	1	0	0	0	10437	1145	40	1	432	1	NKAIN3	8	63659635	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1288719	63659635	82704387	2164	18620										
TRIM55	84675	hgsc.bcm.edu	37	chr8	67064654	67064654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaggcggagaaggagaaaAagaaggagaaggagaagtgg	19	1	0	6	rs7843605	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:67064654A>G	ENST00000315962.4	+	8	1401	c.1028A>G	c.(1027-1029)aAa>aGa	p.K343R	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.K343R|TRIM55_ENST00000276573.7_Missense_Mutation_p.K343R	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	343			K -> R (in dbSNP:rs7843605).		signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.K343R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			gaaggagaaaaagaaggagaa	0.413													G|||	1069	0.213458	0.6664	0.0908	5008	,	,		21464	0.0		0.0915	False		,,,				2504	0.0337				p.K343R		Atlas-SNP	.											TRIM55,NS,carcinoma,0,1	TRIM55	91	1	1	Substitution - Missense(1)	prostate(1)	c.A1028G						PASS	.	G	ARG/LYS,ARG/LYS,ARG/LYS,	2573,1833	510.9+/-367.7	761,1051,391	41	38	39		1028,1028,1028,	-1.8	0	8	dbSNP_116	39	825,7775	768.5+/-407.6	43,739,3518	no	missense,missense,missense,intron	TRIM55	NM_033058.2,NM_184085.1,NM_184086.1,NM_184087.1	26,26,26,	804,1790,3909	GG,GA,AA		9.593,41.6024,26.1264	benign,benign,benign,	343/541,343/549,343/453,	67064654	3398,9608	2203	4300	6503	SO:0001583	missense	84675	exon8			GAGAAAAAGAAGG	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1028A>G	8.37:g.67064654A>G	ENSP00000323913:p.Lys343Arg	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	15	14	0.933333	NM_184086	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	423	0.1936813186813187	312	0.6341463414634146	35	0.09668508287292818	0	0.0	76	0.10026385224274406	G	0.158	-1.083948	0.01888	0.583976	0.09593	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.27720	1.66;1.66;1.65	3.94	-1.8	0.07907	.	1.469880	0.04195	N	0.329017	T	0.00012	0.0000	N	0.08118	0	0.46901	P	7.540000000000324E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43845	-0.9366	9	0.24483	T	0.36	.	1.822	0.03112	0.5064:0.1493:0.1936:0.1507	rs7843605;rs52811956;rs7843605	343;343;343	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	R	343	ENSP00000323913:K343R;ENSP00000297348:K343R;ENSP00000276573:K343R	ENSP00000276573:K343R	K	+	2	0	TRIM55	67227208	0.055000	0.20627	0.000000	0.03702	0.040000	0.13550	-0.476000	0.06591	-0.529000	0.06358	-0.192000	0.12808	AAA	A|0.741;G|0.259	0.259	strong		0.413	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		G	67064654	A	G	67064654	3	3	23	1	0	0	0	0	1	0	0	0	16526	14	1	2	1058	2	TRIM55	8	67064654	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3405019	67064654	79299368	2165	18621										
ADHFE1	137872	hgsc.bcm.edu	37	chr8	67380528	67380528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcaccaagcttgcacccTgtccccagtcagaagaggat	11	13	2	2	rs1060242	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:67380528T>C	ENST00000396623.3	+	14	1376	c.1345T>C	c.(1345-1347)Tgt>Cgt	p.C449R	C8orf46_ENST00000482608.2_Intron|ADHFE1_ENST00000415254.1_Missense_Mutation_p.C401R|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	449			C -> R (in dbSNP:rs1060242). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005}.		2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTTGCACCCTGTCCCCAGTC	0.403													C|||	2902	0.579473	0.7496	0.6614	5008	,	,		20313	0.381		0.502	False		,,,				2504	0.5757				p.C449R		Atlas-SNP	.											.	ADHFE1	83	.	0			c.T1345C						PASS	.	C	ARG/CYS	3164,1242	429.5+/-342.2	1147,870,186	89	85	86		1345	3.7	0.8	8	dbSNP_86	86	4074,4526	593.6+/-393.2	968,2138,1194	yes	missense	ADHFE1	NM_144650.2	180	2115,3008,1380	CC,CT,TT		47.3721,28.1888,44.3488	benign	449/468	67380528	7238,5768	2203	4300	6503	SO:0001583	missense	137872	exon14			GCACCCTGTCCCC	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1345T>C	8.37:g.67380528T>C	ENSP00000379865:p.Cys449Arg	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	83	24	0.289157	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	1210	0.5540293040293041	366	0.7439024390243902	232	0.6408839779005525	233	0.40734265734265734	379	0.5	C	2.114	-0.402972	0.04865	0.718112	0.473721	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.35421	1.31;1.31	5.47	3.68	0.42216	Alcohol dehydrogenase, iron-type (1);	0.046699	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00002	-3.515	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47045	-0.9147	9	0.02654	T	1	-19.9151	10.8035	0.46502	0.0:0.7942:0.0:0.2058	rs1060242;rs1801563;rs3201106;rs3739340;rs17321905;rs52836210;rs59046581;rs1060242	449	Q8IWW8	HOT_HUMAN	R	449;401	ENSP00000379865:C449R;ENSP00000407115:C401R	ENSP00000379865:C449R	C	+	1	0	ADHFE1	67543082	0.947000	0.32204	0.818000	0.32626	0.983000	0.72400	1.922000	0.40045	0.295000	0.22570	-0.186000	0.12905	TGT	T|0.441;C|0.559	0.559	strong		0.403	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		C	67380528	T	C	67380528	3	2	23	1	0	0	0	0	1	0	0	0	314	1580	55	3	1399	3	ADHFE1	8	67380528	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	315874	67380528	78983494	2166	18622										
LRRC67	286187	hgsc.bcm.edu	37	chr8	67926717	67926717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacatgaaatacaattgttTtgtaggtacaagtgggtcag	10	4	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:67926717T>C	ENST00000324682.5	-	3	384	c.240A>G	c.(238-240)caA>caG	p.Q80Q	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000522909.1_Silent_p.Q80Q	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	80					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TACAATTGTTTTGTAGGTACA	0.274																																					p.Q80Q		Atlas-SNP	.											.	PPP1R42	2	.	0			c.A240G						PASS	.						97	109	105					8																	67926717		2203	4294	6497	SO:0001819	synonymous_variant	286187	exon3			ATTGTTTTGTAGG	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.240A>G	8.37:g.67926717T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	73	60	0.821918	NM_001013626		Silent	SNP	ENST00000324682.5	37	CCDS34902.1																																																																																			.	.	none		0.274	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		C	67926717	T	C	67926717	2	2	23	1	0	0	0	0	0	0	0	1	9019	1838	64	2		2	LRRC67	8	67926717	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	546189	67926717	78437305	2167	18623										
C8orf34	116328	hgsc.bcm.edu	37	chr8	69699756	69699756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaaagtgaaggagtggaaGcagaacaagagaaacgtgag	15	4	0	5	rs16935065	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:69699756G>A	ENST00000539993.1	+	12	1825	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	C8orf34_ENST00000518698.1_Missense_Mutation_p.A512T|C8orf34_ENST00000337103.4_Missense_Mutation_p.A401T|C8orf34_ENST00000325233.3_Missense_Mutation_p.A170T			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	426			A -> T (in dbSNP:rs16935065). {ECO:0000269|PubMed:15489334}.							NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGAGTGGAAGCAGAACAAGA	0.353													G|||	843	0.168331	0.2784	0.0965	5008	,	,		17608	0.124		0.1521	False		,,,				2504	0.1329				p.A512T		Atlas-SNP	.											.	C8orf34	170	.	0			c.G1534A						PASS	.	G	THR/ALA	1040,3364	379.7+/-323.4	130,780,1292	110	99	102		1534	-0.3	1	8	dbSNP_123	102	1339,7261	258.4+/-282.1	99,1141,3060	yes	missense	C8orf34	NM_052958.2	58	229,1921,4352	AA,AG,GG		15.5698,23.6149,18.2944	benign	512/539	69699756	2379,10625	2202	4300	6502	SO:0001583	missense	116328	exon12			GTGGAAGCAGAAC	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1276G>A	8.37:g.69699756G>A	ENSP00000438159:p.Ala426Thr	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	119	82	0.689076	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		356	0.163003663003663	124	0.25203252032520324	34	0.09392265193370165	72	0.1258741258741259	126	0.1662269129287599	G	17.35	3.368334	0.61513	0.236149	0.155698	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.54675	0.58;0.65;0.64;0.56	5.36	-0.339	0.12647	.	0.700302	0.12960	N	0.425071	T	0.00012	0.0000	N	0.19112	0.55	0.38403	P	0.05427199999999999	B	0.02656	0.0	B	0.06405	0.002	T	0.25916	-1.0118	8	.	.	.	-3.0872	5.0911	0.14708	0.3637:0.2059:0.4304:0.0	rs16935065;rs52799884;rs16935065	426	Q49A92	CH034_HUMAN	T	512;426;401;170	ENSP00000427820:A512T;ENSP00000438159:A426T;ENSP00000337174:A401T;ENSP00000319532:A170T	.	A	+	1	0	C8orf34	69862310	0.998000	0.40836	0.956000	0.39512	0.994000	0.84299	0.396000	0.20867	0.006000	0.14734	0.655000	0.94253	GCA	G|0.813;A|0.187	0.187	strong		0.353	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		A	69699756	G	A	69699756	3	1	23	1	0	0	0	0	1	0	0	0	2422	971	34	2	1243	2	C8orf34	8	69699756	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1773039	69699756	76664266	2168	18624										
XKR9	389668	hgsc.bcm.edu	37	chr8	71646201	71646201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggatgctgagtgttgtaCttctactattcttaaatgtt	9	6	2	1	rs61734026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:71646201C>T	ENST00000408926.3	+	5	1198	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.L222F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	222						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAGTGTTGTACTTCTACTATT	0.313													C|||	24	0.00479233	0.0	0.0101	5008	,	,		16387	0.0		0.0149	False		,,,				2504	0.002				p.L222F		Atlas-SNP	.											.	XKR9	43	.	0			c.C664T						PASS	.	C	PHE/LEU	7,4399	15.5+/-35.6	0,7,2196	189	188	188		664	4.7	1	8	dbSNP_129	188	110,8486	57.5+/-118.9	1,108,4189	yes	missense	XKR9	NM_001011720.1	22	1,115,6385	TT,TC,CC		1.2797,0.1589,0.8999	possibly-damaging	222/374	71646201	117,12885	2203	4298	6501	SO:0001583	missense	389668	exon5			GTTGTACTTCTAC	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.664C>T	8.37:g.71646201C>T	ENSP00000386141:p.Leu222Phe	Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	461	266	0.577007	NM_001011720	B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	12	0.005494505494505495	0	0.0	3	0.008287292817679558	0	0.0	9	0.011873350923482849	C	14.17	2.456518	0.43634	0.001589	0.012797	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.70749	-0.51;-0.51	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.62723	1.935	0.53688	D	0.999976	P	0.42993	0.797	B	0.39840	0.311	T	0.66097	-0.6008	10	0.49607	T	0.09	-22.2782	9.9909	0.41870	0.0:0.8431:0.0:0.1569	rs61734026	222	Q5GH70	XKR9_HUMAN	F	222	ENSP00000386141:L222F;ENSP00000431088:L222F	ENSP00000386141:L222F	L	+	1	0	XKR9	71808755	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.792000	0.38754	2.597000	0.87782	0.563000	0.77884	CTT	C|0.990;T|0.010	0.010	strong		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		T	71646201	C	T	71646201	3	4	23	1	0	0	0	0	1	0	0	0	17435	565	20	2	674	2	XKR9	8	71646201	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1946445	71646201	74717821	2169	18625										
TRPA1	8989	hgsc.bcm.edu	37	chr8	72967973	72967973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcttttggaatgaatggAcacattaaagccaagtaggt	10	5	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:72967973A>G	ENST00000262209.4	-	11	1519	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	438					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAATGAATGGACACATTAAAG	0.418																																					p.S438P		Atlas-SNP	.											TRPA1,NS,carcinoma,+2,2	TRPA1	256	2	0			c.T1312C						scavenged	.						35	34	34					8																	72967973		2203	4293	6496	SO:0001583	missense	8989	exon11			GAATGGACACATT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1312T>C	8.37:g.72967973A>G	ENSP00000262209:p.Ser438Pro	Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	461	5	0.010846	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580185	0.65992	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71934	-0.61;-0.61	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.099950	0.64402	D	0.000001	T	0.75889	0.3911	L	0.38531	1.155	0.58432	D	0.999991	D	0.54207	0.965	D	0.63877	0.919	T	0.75508	-0.3293	10	0.39692	T	0.17	-13.5501	15.1562	0.72743	1.0:0.0:0.0:0.0	.	438	O75762	TRPA1_HUMAN	P	290;438	ENSP00000428151:S290P;ENSP00000262209:S438P	ENSP00000262209:S438P	S	-	1	0	TRPA1	73130527	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.823000	0.62694	2.038000	0.60285	0.528000	0.53228	TCC	.	.	none		0.418	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72967973	A	G	72967973	3	3	23	1	0	0	0	0	1	0	0	0	16574	275	10	2	2115	2	TRPA1	8	72967973	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1321772	72967973	73396049	2170	18626										
CRISPLD1	83690	hgsc.bcm.edu	37	chr8	75927053	75927053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcatctcttaaaggggaaaCtggtggggccatgcccctta	11	10	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:75927053C>T	ENST00000262207.4	+	6	1101	c.633C>T	c.(631-633)aaC>aaT	p.N211N	CRISPLD1_ENST00000523524.1_Silent_p.N23N|CRISPLD1_ENST00000517786.1_Silent_p.N25N	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	211					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AAAGGGGAAACTGGTGGGGCC	0.408																																					p.N211N		Atlas-SNP	.											CRISPLD1,colon,carcinoma,+2,1	CRISPLD1	94	1	0			c.C633T						scavenged	.						44	42	42					8																	75927053		2202	4299	6501	SO:0001819	synonymous_variant	83690	exon6			GGGAAACTGGTGG	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.633C>T	8.37:g.75927053C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	111	4	0.036036	NM_031461	B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	CCDS6219.1																																																																																			.	.	none		0.408	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		T	75927053	C	T	75927053	2	4	23	1	0	0	0	0	0	0	0	1	3882	564	20	2		2	CRISPLD1	8	75927053	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2959080	75927053	70436969	2171	18627										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77765398	77765398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgccgctctttccttccAttatgatgcaacctgtgcaa	6	14	1	1	rs16919452	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:77765398A>G	ENST00000521891.2	+	10	6689	c.6241A>G	c.(6241-6243)Att>Gtt	p.I2081V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.I2055V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2036V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2036V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2036					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)			CTTTCCTTCCATTATGATGCA	0.607										HNSCC(33;0.089)			A|||	413	0.0824681	0.0091	0.1945	5008	,	,		10324	0.1825		0.0328	False		,,,				2504	0.0501				p.I2081V		Atlas-SNP	.											.	ZFHX4	878	.	0			c.A6241G						PASS	.	A	VAL/ILE	38,3882		0,38,1922	17	18	17		6241	2.5	0.8	8	dbSNP_123	17	249,7885		1,247,3819	yes	missense	ZFHX4	NM_024721.4	29	1,285,5741	GG,GA,AA		3.0612,0.9694,2.381	benign	2081/3617	77765398	287,11767	1960	4067	6027	SO:0001583	missense	79776	exon10			CCTTCCATTATGA		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.6241A>G	8.37:g.77765398A>G	ENSP00000430497:p.Ile2081Val	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	240	152	0.633333	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	185	0.08470695970695971	5	0.01016260162601626	60	0.16574585635359115	95	0.1660839160839161	25	0.032981530343007916	A	15.02	2.708696	0.48517	0.009694	0.030612	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46819	0.86;0.91;0.88;0.87	3.76	2.55	0.30701	.	0.152178	0.29853	U	0.011031	T	0.00073	0.0002	N	0.19112	0.55	0.28432	P	0.9172272	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.14023	0.003;0.01;0.006	T	0.14035	-1.0487	9	0.15499	T	0.54	.	9.1445	0.36923	0.8362:0.0:0.0:0.1638	rs16919452;rs16919452	2036;2036;2081	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2081;2065;2036;2036;2055	ENSP00000430497:I2081V;ENSP00000399605:I2036V;ENSP00000050961:I2036V;ENSP00000430848:I2055V	ENSP00000050961:I2036V	I	+	1	0	ZFHX4	77927953	1.000000	0.71417	0.818000	0.32626	0.930000	0.56654	1.529000	0.35996	0.594000	0.29761	0.374000	0.22700	ATT	A|0.927;G|0.073	0.073	strong		0.607	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77765398	A	G	77765398	3	3	23	1	0	0	0	0	1	0	0	0	17632	217	8	2	6275	2	ZFHX4	8	77765398	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1838345	77765398	68598624	2172	18628										
PAG1	55824	hgsc.bcm.edu	37	chr8	81897200	81897200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattttttgtttctgtccacCgaggcatattcagcaaactc	6	11	2	0	rs7006101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:81897200C>T	ENST00000220597.4	-	7	1397	c.687G>A	c.(685-687)tcG>tcA	p.S229S		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	229					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTCTGTCCACCGAGGCATATT	0.488													C|||	704	0.140575	0.2852	0.0865	5008	,	,		20851	0.001		0.1083	False		,,,				2504	0.1605				p.S229S		Atlas-SNP	.											.	PAG1	39	.	0			c.G687A						PASS	.	C		1092,3314	394.2+/-329.2	141,810,1252	121	119	120		687	-11.1	0	8	dbSNP_116	120	849,7751	193.2+/-239.0	40,769,3491	no	coding-synonymous	PAG1	NM_018440.3		181,1579,4743	TT,TC,CC		9.8721,24.7844,14.9239		229/433	81897200	1941,11065	2203	4300	6503	SO:0001819	synonymous_variant	55824	exon7			GTCCACCGAGGCA	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.687G>A	8.37:g.81897200C>T		Somatic	381	1	0.00262467		WXS	Illumina HiSeq	Phase_I	529	177	0.334594	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																			C|0.853;T|0.147	0.147	strong		0.488	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		T	81897200	C	T	81897200	2	4	23	1	0	0	0	0	0	0	0	1	11388	639	23	1		1	PAG1	8	81897200	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4131802	81897200	64466822	2173	18629										
CHMP4C	92421	hgsc.bcm.edu	37	chr8	82670412	82670412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacttgaagaattggaacaGgaggaattaaataagaagat	11	2	0	4	rs62514262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:82670412G>A	ENST00000297265.4	+	4	712	c.519G>A	c.(517-519)caG>caA	p.Q173Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	173	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AATTGGAACAGGAGGAATTAA	0.428													G|||	92	0.0183706	0.0023	0.0375	5008	,	,		19447	0.001		0.0447	False		,,,				2504	0.0174				p.Q173Q		Atlas-SNP	.											CHMP4C,NS,carcinoma,0,1	CHMP4C	28	1	0			c.G519A						scavenged	.	G		41,4365	43.8+/-77.6	0,41,2162	109	108	108		519	3.5	1	8	dbSNP_129	108	417,8183	129.8+/-187.9	14,389,3897	no	coding-synonymous	CHMP4C	NM_152284.3		14,430,6059	AA,AG,GG		4.8488,0.9305,3.5215		173/234	82670412	458,12548	2203	4300	6503	SO:0001819	synonymous_variant	92421	exon4			GGAACAGGAGGAA	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.519G>A	8.37:g.82670412G>A		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	165	92	0.557576	NM_152284	B2RBZ1	Silent	SNP	ENST00000297265.4	37	CCDS6233.1																																																																																			G|0.966;A|0.034	0.034	strong		0.428	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		A	82670412	G	A	82670412	2	1	23	1	0	0	0	0	0	0	0	1	3358	991	35	2		2	CHMP4C	8	82670412	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	773212	82670412	63693610	2174	18630										
SNX16	64089	hgsc.bcm.edu	37	chr8	82727569	82727569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcacttaccctgctttcTtctaggctatcaaatggacc	6	13	3	0	rs16909651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:82727569T>C	ENST00000345957.4	-	5	950	c.672A>G	c.(670-672)gaA>gaG	p.E224E	SNX16_ENST00000353788.4_Silent_p.E195E|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_Silent_p.E224E	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	224					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CCCTGCTTTCTTCTAGGCTAT	0.353													T|||	786	0.156949	0.0144	0.147	5008	,	,		16427	0.1974		0.1978	False		,,,				2504	0.273				p.E224E		Atlas-SNP	.											SNX16,caecum,carcinoma,0,1	SNX16	21	1	0			c.A672G						PASS	.	T	,,	192,4214	121.3+/-158.8	4,184,2015	101	90	94		672,672,585	4.6	1	8	dbSNP_123	94	1600,7000	297.7+/-303.5	165,1270,2865	no	coding-synonymous,coding-synonymous,coding-synonymous	SNX16	NM_022133.3,NM_152836.2,NM_152837.2	,,	169,1454,4880	CC,CT,TT		18.6047,4.3577,13.7783	,,	224/345,224/345,195/316	82727569	1792,11214	2203	4300	6503	SO:0001819	synonymous_variant	64089	exon5			GCTTTCTTCTAGG	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.672A>G	8.37:g.82727569T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	137	76	0.554745	NM_152836	A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	37	CCDS6234.1																																																																																			T|0.855;C|0.145	0.145	strong		0.353	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		C	82727569	T	C	82727569	2	2	23	1	0	0	0	0	0	0	0	1	14887	1606	56	3		3	SNX16	8	82727569	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	57157	82727569	63636453	2175	18631										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87229702	87229702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagaaatccaattttaccttAtaaggtatagatagattggg	8	4	0	3	rs4546639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87229702A>G	ENST00000297524.3	-	3	1279	c.1176T>C	c.(1174-1176)taT>taC	p.Y392Y	SLC7A13_ENST00000419776.2_Silent_p.Y383Y|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	392						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTACCTTATAAGGTATAG	0.289													A|||	1014	0.202476	0.0688	0.1974	5008	,	,		17572	0.3383		0.1372	False		,,,				2504	0.3139				p.Y392Y		Atlas-SNP	.											.	SLC7A13	97	.	0			c.T1176C						PASS	.	A		394,3954		20,354,1800	21	23	22		1176	5	1	8	dbSNP_111	22	1098,7456		81,936,3260	no	coding-synonymous	SLC7A13	NM_138817.2		101,1290,5060	GG,GA,AA		12.8361,9.0616,11.5641		392/471	87229702	1492,11410	2174	4277	6451	SO:0001819	synonymous_variant	157724	exon3			TACCTTATAAGGT	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1176T>C	8.37:g.87229702A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	98	57	0.581633	NM_138817	Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																			A|0.858;G|0.142	0.142	strong		0.289	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		G	87229702	A	G	87229702	2	3	23	1	0	0	0	0	0	0	0	1	14695	456	16	2		2	SLC7A13	8	87229702	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4502133	87229702	59134320	2176	18632										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87229739	87229739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggttcctggtatctccgcCttagtattcctatcattaat	7	10	2	0	rs4419794	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87229739C>T	ENST00000297524.3	-	3	1242	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R371K|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	380			R -> K (in dbSNP:rs4419794).			integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATCTCCGCCTTAGTATTCC	0.299													C|||	973	0.194289	0.0401	0.1945	5008	,	,		17064	0.3383		0.1372	False		,,,				2504	0.3129				p.R380K		Atlas-SNP	.											SLC7A13,NS,carcinoma,+1,1	SLC7A13	97	1	0			c.G1139A						PASS	.	C	LYS/ARG	248,4140		9,230,1955	29	34	32		1139	-0.8	0	8	dbSNP_111	32	1088,7496		80,928,3284	yes	missense	SLC7A13	NM_138817.2	26	89,1158,5239	TT,TC,CC		12.6747,5.6518,10.2991	benign	380/471	87229739	1336,11636	2194	4292	6486	SO:0001583	missense	157724	exon3			CTCCGCCTTAGTA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1139G>A	8.37:g.87229739C>T	ENSP00000297524:p.Arg380Lys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	143	87	0.608392	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	368	0.1684981684981685	18	0.036585365853658534	56	0.15469613259668508	193	0.3374125874125874	101	0.13324538258575197	C	0.005	-2.129682	0.00338	0.056518	0.126747	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.88818	-2.43;-2.43	5.03	-0.761	0.11038	.	0.592368	0.15885	N	0.239861	T	0.00012	0.0000	N	0.00230	-1.795	0.80722	P	0.0	B;B	0.10296	0.003;0.0	B;B	0.01281	0.0;0.0	T	0.38478	-0.9659	9	0.27082	T	0.32	.	3.1871	0.06604	0.246:0.2762:0.0:0.4778	rs4419794;rs60737499;rs4419794	371;380	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	K	380;371	ENSP00000297524:R380K;ENSP00000410982:R371K	ENSP00000297524:R380K	R	-	2	0	SLC7A13	87298855	0.931000	0.31567	0.005000	0.12908	0.003000	0.03518	0.841000	0.27613	0.109000	0.17891	-1.124000	0.02001	AGG	C|0.856;T|0.144	0.144	strong		0.299	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		T	87229739	C	T	87229739	3	4	23	1	0	0	0	0	1	0	0	0	14695	681	24	2	281	2	SLC7A13	8	87229739	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37	87229739	59134283	2177	18633										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87229890	87229890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagaagagtgactattaaGtgtattaaatagcaaaggca	11	3	0	3	rs72688509	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87229890G>A	ENST00000297524.3	-	3	1091	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	SLC7A13_ENST00000419776.2_Missense_Mutation_p.L321F|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	330						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGACTATTAAGTGTATTAAAT	0.348													G|||	34	0.00678914	0.0008	0.0086	5008	,	,		15711	0.0		0.0209	False		,,,				2504	0.0061				p.L330F		Atlas-SNP	.											.	SLC7A13	97	.	0			c.C988T						PASS	.	G	PHE/LEU	34,4372	37.6+/-69.7	0,34,2169	85	96	92		988	4.4	0	8	dbSNP_130	92	249,8351	98.1+/-159.7	2,245,4053	yes	missense	SLC7A13	NM_138817.2	22	2,279,6222	AA,AG,GG		2.8953,0.7717,2.1759	probably-damaging	330/471	87229890	283,12723	2203	4300	6503	SO:0001583	missense	157724	exon3			TATTAAGTGTATT	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.988C>T	8.37:g.87229890G>A	ENSP00000297524:p.Leu330Phe	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	136	65	0.477941	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	21	0.009615384615384616	0	0.0	4	0.011049723756906077	0	0.0	17	0.022427440633245383	G	17.01	3.279848	0.59758	0.007717	0.028953	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90261	-2.64;-2.64	5.27	4.4	0.53042	Amino acid permease domain (1);	0.000000	0.53938	D	0.000058	D	0.86577	0.5966	M	0.66506	2.035	0.26823	N	0.96874	D;D	0.89917	0.959;1.0	P;D	0.85130	0.748;0.997	T	0.82967	-0.0194	10	0.62326	D	0.03	.	12.0277	0.53380	0.0845:0.0:0.9155:0.0	.	321;330	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	F	330;321	ENSP00000297524:L330F;ENSP00000410982:L321F	ENSP00000297524:L330F	L	-	1	0	SLC7A13	87299006	0.401000	0.25303	0.023000	0.16930	0.087000	0.18053	0.692000	0.25482	1.343000	0.45638	0.650000	0.86243	CTT	G|0.979;A|0.021	0.021	strong		0.348	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		A	87229890	G	A	87229890	3	1	23	1	0	0	0	0	1	0	0	0	14695	1029	36	2	432	2	SLC7A13	8	87229890	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	151	87229890	59134132	2178	18634										
FAM82B	51115	hgsc.bcm.edu	37	chr8	87519315	87519315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgagagtaaaaggcctctTttgaaagttcctgggtttcc	11	8	1	2	rs6980476	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87519315T>G	ENST00000406452.3	-	2	315	c.156A>C	c.(154-156)aaA>aaC	p.K52N	RMDN1_ENST00000523911.1_Missense_Mutation_p.K8N|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000430676.2_Missense_Mutation_p.K52N|RMDN1_ENST00000519966.1_Missense_Mutation_p.K52N|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	52			K -> N (in dbSNP:rs6980476). {ECO:0000269|PubMed:10810093, ECO:0000269|PubMed:14702039}.			microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGGCCTCTTTTGAAAGTTC	0.393													T|||	768	0.153355	0.1725	0.134	5008	,	,		16358	0.0496		0.2515	False		,,,				2504	0.1472				p.K52N		Atlas-SNP	.											.	.	.	.	0			c.A156C						PASS	.	T	ASN/LYS	900,3506	345.7+/-308.6	74,752,1377	116	126	123		156	3.3	1	8	dbSNP_116	123	2324,6276	390.4+/-343.3	315,1694,2291	yes	missense	FAM82B	NM_016033.2	94	389,2446,3668	GG,GT,TT		27.0233,20.4267,24.7886	benign	52/315	87519315	3224,9782	2203	4300	6503	SO:0001583	missense	51115	exon2			GCCTCTTTTGAAA	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.156A>C	8.37:g.87519315T>G	ENSP00000385927:p.Lys52Asn	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	142	47	0.330986	NM_016033	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	375	0.1717032967032967	81	0.16463414634146342	62	0.1712707182320442	33	0.057692307692307696	199	0.262532981530343	T	12.62	1.991542	0.35131	0.204267	0.270233	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	T;T;T;T;T	0.55760	1.15;1.31;0.54;0.5;0.83	4.4	3.26	0.37387	.	0.540958	0.20542	N	0.090295	T	0.00012	0.0000	L	0.50919	1.6	0.09310	P	0.9999999999497646	B;B;B	0.17268	0.021;0.021;0.002	B;B;B	0.15052	0.007;0.012;0.003	T	0.15065	-1.0450	8	.	.	.	-11.069	5.8521	0.18699	0.0:0.1214:0.0:0.8786	rs6980476;rs52814394;rs58444409;rs6980476	52;52;52	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	N	52;8;52;52;8	ENSP00000385927:K52N;ENSP00000429899:K8N;ENSP00000428661:K52N;ENSP00000409661:K52N;ENSP00000428743:K8N	.	K	-	3	2	FAM82B	87588431	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	2.340000	0.43974	0.747000	0.32809	0.533000	0.62120	AAA	T|0.790;G|0.210	0.210	strong		0.393	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		G	87519315	T	G	87519315	3	3	23	1	0	0	0	0	1	0	0	0	5632	1838	64	5	824	5	FAM82B	8	87519315	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	289425	87519315	58844707	2179	18635										
CPNE3	8895	hgsc.bcm.edu	37	chr8	87540872	87540872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaccctttatgtgtgttGtttttgaatacaagtggtca	9	6	2	2	rs10956871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87540872G>A	ENST00000521271.1	+	3	261	c.99G>A	c.(97-99)ttG>ttA	p.L33L	CPNE3_ENST00000198765.4_Silent_p.L33L	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	33	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TATGTGTGTTGTTTTTGAATA	0.373													A|||	825	0.164736	0.2103	0.1383	5008	,	,		19358	0.0496		0.2555	False		,,,				2504	0.1472				p.L33L		Atlas-SNP	.											.	CPNE3	65	.	0			c.G99A						PASS	.	A		1068,3338	722.7+/-409.3	116,836,1251	116	115	116		99	-5.3	0.4	8	dbSNP_120	116	2330,6270	703.9+/-405.4	315,1700,2285	no	coding-synonymous	CPNE3	NM_003909.3		431,2536,3536	AA,AG,GG		27.093,24.2397,26.1264		33/538	87540872	3398,9608	2203	4300	6503	SO:0001819	synonymous_variant	8895	exon3			TGTGTTGTTTTTG	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.99G>A	8.37:g.87540872G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	163	49	0.300613	NM_003909	A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	CCDS6243.1																																																																																			G|0.775;A|0.225	0.225	strong		0.373	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			A	87540872	G	A	87540872	2	1	23	1	0	0	0	0	0	0	0	1	3813	1368	48	2		2	CPNE3	8	87540872	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21557	87540872	58823150	2180	18636										
CPNE3	8895	hgsc.bcm.edu	37	chr8	87567193	87567193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggtttgctgctgcagccaCgcaacagcagacagcttctg	11	13	1	1	rs2304789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:87567193C>T	ENST00000521271.1	+	15	1397	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	CPNE3_ENST00000198765.4_Missense_Mutation_p.T412M	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	412	VWFA.		T -> M (in dbSNP:rs2304789). {ECO:0000269|PubMed:14702039}.		lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTGCAGCCACGCAACAGCAG	0.463													C|||	1066	0.212859	0.2829	0.17	5008	,	,		17111	0.0139		0.332	False		,,,				2504	0.2311				p.T412M		Atlas-SNP	.											.	CPNE3	65	.	0			c.C1235T						PASS	.	C	MET/THR	1380,3026	454.0+/-350.5	217,946,1040	110	102	105		1235	5.7	1	8	dbSNP_100	105	2740,5860	437.5+/-358.6	427,1886,1987	yes	missense	CPNE3	NM_003909.3	81	644,2832,3027	TT,TC,CC		31.8605,31.3209,31.6777	benign	412/538	87567193	4120,8886	2203	4300	6503	SO:0001583	missense	8895	exon15			CAGCCACGCAACA	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1235C>T	8.37:g.87567193C>T	ENSP00000430934:p.Thr412Met	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	137	45	0.328467	NM_003909	A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	479	0.21932234432234432	155	0.3150406504065041	69	0.19060773480662985	10	0.017482517482517484	245	0.3232189973614776	C	14.49	2.550189	0.45383	0.313209	0.318605	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	von Willebrand factor, type A (1);Copine (1);	0.224009	0.46758	D	0.000267	T	0.00012	0.0000	L	0.38649	1.16	0.09310	P	1.0	P	0.34826	0.471	B	0.32624	0.149	T	0.44832	-0.9302	9	0.42905	T	0.14	-22.0502	20.1115	0.97913	0.0:1.0:0.0:0.0	rs2304789;rs59566172;rs2304789	412	O75131	CPNE3_HUMAN	M	412	ENSP00000198765:T412M;ENSP00000430934:T412M	ENSP00000198765:T412M	T	+	2	0	CPNE3	87636309	0.936000	0.31750	0.998000	0.56505	0.958000	0.62258	3.088000	0.50175	2.814000	0.96858	0.655000	0.94253	ACG	C|0.730;T|0.270	0.270	strong		0.463	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			T	87567193	C	T	87567193	3	4	23	1	0	0	0	0	1	0	0	0	3813	536	19	1	1285	1	CPNE3	8	87567193	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26321	87567193	58796829	2181	18637										
SLC26A7	115111	hgsc.bcm.edu	37	chr8	92364100	92364100	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgcaataggacctttgctTtactggctgcccatggtacg	10	10	0	0	rs10109254	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:92364100T>C	ENST00000276609.3	+	10	1442	c.1203T>C	c.(1201-1203)ctT>ctC	p.L401L	SLC26A7_ENST00000309536.2_Silent_p.L401L|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.L401L	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GACCTTTGCTTTACTGGCTGC	0.343													T|||	1107	0.221046	0.32	0.2233	5008	,	,		18150	0.0357		0.2823	False		,,,				2504	0.2137				p.L401L		Atlas-SNP	.											.	SLC26A7	207	.	0			c.T1203C						PASS	.	T	,	1372,3034	452.8+/-350.1	220,932,1051	204	186	192		1203,1203	2	1	8	dbSNP_119	192	2541,6059	413.3+/-351.1	372,1797,2131	no	coding-synonymous,coding-synonymous	SLC26A7	NM_052832.2,NM_134266.1	,	592,2729,3182	CC,CT,TT		29.5465,31.1394,30.0861	,	401/657,401/664	92364100	3913,9093	2203	4300	6503	SO:0001819	synonymous_variant	115111	exon10			TTTGCTTTACTGG	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1203T>C	8.37:g.92364100T>C		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	162	51	0.314815	NM_134266		Silent	SNP	ENST00000276609.3	37	CCDS6254.1																																																																																			T|0.739;C|0.261	0.261	strong		0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			C	92364100	T	C	92364100	2	2	23	1	0	0	0	0	0	0	0	1	14522	1828	64	2		2	SLC26A7	8	92364100	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4796907	92364100	53999922	2182	18638										
RAD54B	25788	hgsc.bcm.edu	37	chr8	95419698	95419698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcatggcgtggtttgcaAttttggaaatcattctgtct	12	6	4	0	rs2291439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:95419698A>G	ENST00000336148.5	-	5	874	c.750T>C	c.(748-750)aaT>aaC	p.N250N		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	250					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTGGTTTGCAATTTTGGAAAT	0.328								Direct reversal of damage;Homologous recombination					A|||	2094	0.418131	0.3517	0.536	5008	,	,		18131	0.4663		0.3777	False		,,,				2504	0.4162				p.N250N		Atlas-SNP	.											.	RAD54B	88	.	0			c.T750C						PASS	.	A	,	1557,2849	487.4+/-360.9	261,1035,907	76	74	75		198,750	2.7	0.6	8	dbSNP_100	75	3140,5460	476.8+/-369.5	549,2042,1709	yes	coding-synonymous,coding-synonymous	RAD54B	NM_001205263.1,NM_012415.3	,	810,3077,2616	GG,GA,AA		36.5116,35.3382,36.1141	,	66/727,250/911	95419698	4697,8309	2203	4300	6503	SO:0001819	synonymous_variant	25788	exon5			TTTGCAATTTTGG	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.750T>C	8.37:g.95419698A>G		Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	368	219	0.595109	NM_012415	F6WBS8	Silent	SNP	ENST00000336148.5	37	CCDS6262.1																																																																																			A|0.610;C|0.003	.	strong		0.328	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		G	95419698	A	G	95419698	2	3	23	1	0	0	0	0	0	0	0	1	12992	98	4	2		2	RAD54B	8	95419698	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3055598	95419698	50944324	2183	18639										
KIAA1429	25962	hgsc.bcm.edu	37	chr8	95538468	95538468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacctaaagagaacagggtaTggatcatccctctctggagg	11	9	2	1	rs2890827	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:95538468T>C	ENST00000297591.5	-	8	2079	c.2004A>G	c.(2002-2004)ccA>ccG	p.P668P	KIAA1429_ENST00000421249.2_Silent_p.P668P|KIAA1429_ENST00000437199.1_Silent_p.P668P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	668					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAACAGGGTATGGATCATCCC	0.383													C|||	1856	0.370607	0.4637	0.3156	5008	,	,		21115	0.3194		0.2545	False		,,,				2504	0.456				p.P668P		Atlas-SNP	.											.	KIAA1429	176	.	0			c.A2004G						PASS	.	C	,	1873,2533	630.9+/-395.5	429,1015,759	87	76	80		2004,2004	-1.3	1	8	dbSNP_101	80	2625,5975	687.0+/-404.2	380,1865,2055	no	coding-synonymous,coding-synonymous	KIAA1429	NM_015496.4,NM_183009.2	,	809,2880,2814	CC,CT,TT		30.5233,42.5102,34.584	,	668/1813,668/1148	95538468	4498,8508	2203	4300	6503	SO:0001819	synonymous_variant	25962	exon8			AGGGTATGGATCA	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2004A>G	8.37:g.95538468T>C		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	351	133	0.378917	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	CCDS34923.1																																																																																			T|0.651;C|0.349	0.349	strong		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95538468	T	C	95538468	2	2	23	1	0	0	0	0	0	0	0	1	8231	1451	51	2		2	KIAA1429	8	95538468	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	118770	95538468	50825554	2184	18640										
KIAA1429	25962	hgsc.bcm.edu	37	chr8	95541459	95541459	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcttgttgttcctcttctActtctccttcatcagaatat	3	12	6	1	rs76706433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:95541459A>C	ENST00000297591.5	-	7	794	c.719T>G	c.(718-720)gTa>gGa	p.V240G	KIAA1429_ENST00000421249.2_Missense_Mutation_p.V240G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.V240G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	240	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ttcctcttctacttctccttc	0.438													A|||	46	0.0091853	0.0	0.0144	5008	,	,		18908	0.0		0.0348	False		,,,				2504	0.001				p.V240G		Atlas-SNP	.											.	KIAA1429	176	.	0			c.T719G						PASS	.	A	GLY/VAL,GLY/VAL	12,4394	20.2+/-43.8	0,12,2191	301	233	256		719,719	5.2	1	8	dbSNP_131	256	125,8475	64.6+/-126.8	1,123,4176	yes	missense,missense	KIAA1429	NM_015496.4,NM_183009.2	109,109	1,135,6367	CC,CA,AA		1.4535,0.2724,1.0534	benign,benign	240/1813,240/1148	95541459	137,12869	2203	4300	6503	SO:0001583	missense	25962	exon7			TCTTCTACTTCTC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.719T>G	8.37:g.95541459A>C	ENSP00000297591:p.Val240Gly	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	269	167	0.620818	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	23	0.010531135531135532	0	0.0	6	0.016574585635359115	0	0.0	17	0.022427440633245383	A	13.18	2.159820	0.38119	0.002724	0.014535	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.51325	0.71;0.72;0.71	5.23	5.23	0.72850	.	0.252999	0.29956	N	0.010778	T	0.18635	0.0447	N	0.19112	0.55	0.54753	D	0.999981	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.06607	-1.0817	10	0.54805	T	0.06	-13.0312	11.147	0.48436	0.8458:0.1542:0.0:0.0	.	240;240	Q69YN4-4;Q69YN4	.;VIR_HUMAN	G	240	ENSP00000297591:V240G;ENSP00000395600:V240G;ENSP00000398390:V240G	ENSP00000297591:V240G	V	-	2	0	KIAA1429	95610635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.497000	0.53295	2.098000	0.63641	0.482000	0.46254	GTA	A|0.989;C|0.011	0.011	strong		0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95541459	A	C	95541459	3	2	23	1	0	0	0	0	1	0	0	0	8231	391	14	5	4845	5	KIAA1429	8	95541459	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2991	95541459	50822563	2185	18641										
PGCP	10404	hgsc.bcm.edu	37	chr8	97847358	97847358	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggtggaagctgccaaggtGggggctttggcatctctcat	16	9	2	0	rs1864384	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:97847358G>T	ENST00000220763.5	+	3	801	c.591G>T	c.(589-591)gtG>gtT	p.V197V		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	197					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CTGCCAAGGTGGGGGCTTTGG	0.478													G|||	3051	0.609225	0.3177	0.6556	5008	,	,		17232	0.8829		0.6093	False		,,,				2504	0.6881				p.V197V		Atlas-SNP	.											.	.	.	.	0			c.G591T						PASS	.	G		1750,2656	521.5+/-370.6	339,1072,792	99	100	100		591	-7	0.5	8	dbSNP_92	100	5583,3017	663.8+/-402.1	1834,1915,551	no	coding-synonymous	PGCP	NM_016134.2		2173,2987,1343	TT,TG,GG		35.0814,39.7186,43.6183		197/473	97847358	7333,5673	2203	4300	6503	SO:0001819	synonymous_variant	10404	exon3			CAAGGTGGGGGCT	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.591G>T	8.37:g.97847358G>T		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	278	274	0.985611	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	CCDS6273.1																																																																																			G|0.413;T|0.587	0.587	strong		0.478	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		T	97847358	G	T	97847358	2	4	23	1	0	0	0	0	0	0	0	1	11786	1335	47	4		4	PGCP	8	97847358	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2305899	97847358	48516664	2186	18642										
TSPYL5	85453	hgsc.bcm.edu	37	chr8	98289721	98289721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccacgaagacagtgtctgCggccaggcgctccgagagag	14	13	1	2	rs118032326	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:98289721C>T	ENST00000322128.3	-	1	455	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	118					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACAGTGTCTGCGGCCAGGCGC	0.731													C|||	21	0.00419329	0.0008	0.0101	5008	,	,		11818	0.001		0.0109	False		,,,				2504	0.001				p.A118T		Atlas-SNP	.											.	TSPYL5	48	.	0			c.G352A						PASS	.	C	THR/ALA	11,4217		0,11,2103	9	10	10		352	-3.3	0	8	dbSNP_132	10	100,8066		0,100,3983	yes	missense	TSPYL5	NM_033512.2	58	0,111,6086	TT,TC,CC		1.2246,0.2602,0.8956	benign	118/418	98289721	111,12283	2114	4083	6197	SO:0001583	missense	85453	exon1			TGTCTGCGGCCAG	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.352G>A	8.37:g.98289721C>T	ENSP00000322802:p.Ala118Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	124	50	0.403226	NM_033512	B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	CCDS34927.1	15	0.006868131868131868	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	9	0.011873350923482849	C	8.533	0.871456	0.17322	0.002602	0.012246	ENSG00000180543	ENST00000322128	T	0.18338	2.22	4.16	-3.35	0.04928	.	2.452570	0.02423	N	0.082796	T	0.06050	0.0157	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.39692	T	0.17	4.9426	1.6446	0.02759	0.1614:0.3902:0.1656:0.2828	.	118	Q86VY4	TSYL5_HUMAN	T	118	ENSP00000322802:A118T	ENSP00000322802:A118T	A	-	1	0	TSPYL5	98358897	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-2.322000	0.01118	-0.639000	0.05502	-1.275000	0.01399	GCA	C|0.994;T|0.006	0.006	strong		0.731	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		T	98289721	C	T	98289721	3	4	23	1	0	0	0	0	1	0	0	0	16659	768	27	1	905	1	TSPYL5	8	98289721	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	442363	98289721	48074301	2187	18643										
MATN2	4147	hgsc.bcm.edu	37	chr8	98943545	98943545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggtcataatgatcgtgacAgatgggagacctcaggactc	13	9	2	4	rs2290471	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:98943545A>G	ENST00000520016.1	+	2	631	c.507A>G	c.(505-507)acA>acG	p.T169T	MATN2_ENST00000524308.1_Silent_p.T169T|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Silent_p.T169T|MATN2_ENST00000521689.1_Silent_p.T169T			O00339	MATN2_HUMAN	matrilin 2	169	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGATCGTGACAGATGGGAGAC	0.592													G|||	1390	0.277556	0.5023	0.2565	5008	,	,		21133	0.0804		0.2883	False		,,,				2504	0.181				p.T169T		Atlas-SNP	.											MATN2_ENST00000520016,NS,carcinoma,+1,2	MATN2	165	2	0			c.A507G						PASS	.	G	,	1825,2387		422,981,703	38	44	42		507,507	-11.6	0	8	dbSNP_100	42	2405,6067		366,1673,2197	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	788,2654,2900	GG,GA,AA		28.3876,43.3286,33.3491	,	169/957,169/938	98943545	4230,8454	2106	4236	6342	SO:0001819	synonymous_variant	4147	exon3			CGTGACAGATGGG	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.507A>G	8.37:g.98943545A>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1																																																																																			A|0.787;G|0.213	0.213	strong		0.592	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			G	98943545	A	G	98943545	2	3	23	1	0	0	0	0	0	0	0	1	9334	175	7	3		3	MATN2	8	98943545	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	653824	98943545	47420477	2188	18644										
MATN2	4147	hgsc.bcm.edu	37	chr8	98943598	98943598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgctaaggcacgggacaCgggcatcctaatctttgcca	12	12	1	0	rs2290472	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:98943598C>T	ENST00000520016.1	+	2	684	c.560C>T	c.(559-561)aCg>aTg	p.T187M	MATN2_ENST00000524308.1_Missense_Mutation_p.T187M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.T187M|MATN2_ENST00000521689.1_Missense_Mutation_p.T187M			O00339	MATN2_HUMAN	matrilin 2	187	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.		T -> M (in dbSNP:rs2290472). {ECO:0000269|PubMed:14702039}.			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GCACGGGACACGGGCATCCTA	0.587													C|||	455	0.0908546	0.0083	0.134	5008	,	,		20747	0.0804		0.1829	False		,,,				2504	0.0879				p.T187M		Atlas-SNP	.											MATN2_ENST00000520016,NS,carcinoma,-1,2	MATN2	165	2	0			c.C560T						PASS	.	C	MET/THR,MET/THR	159,4197		2,155,2021	37	43	41		560,560	6	1	8	dbSNP_100	41	1523,7029		134,1255,2887	yes	missense,missense	MATN2	NM_002380.3,NM_030583.2	81,81	136,1410,4908	TT,TC,CC		17.8087,3.6501,13.0307	probably-damaging,probably-damaging	187/957,187/938	98943598	1682,11226	2178	4276	6454	SO:0001583	missense	4147	exon3			GGGACACGGGCAT	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.560C>T	8.37:g.98943598C>T	ENSP00000430487:p.Thr187Met	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	52	30	0.576923	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	248	0.11355311355311355	8	0.016260162601626018	55	0.15193370165745856	46	0.08041958041958042	139	0.18337730870712401	C	27.2	4.813845	0.90790	0.036501	0.178087	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.094375	0.47093	D	0.000246	T	0.00580	0.0019	N	0.02247	-0.625	0.21147	P	0.999777855	D;D;D;D	0.89917	0.998;0.997;1.0;1.0	D;D;D;D	0.74348	0.953;0.947;0.97;0.983	T	0.63821	-0.6550	9	0.62326	D	0.03	-16.9931	20.4388	0.99107	0.0:1.0:0.0:0.0	rs2290472;rs17761988;rs52834592;rs60490128;rs2290472	187;187;187;187	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	M	187	ENSP00000429977:T187M;ENSP00000254898:T187M;ENSP00000430221:T187M;ENSP00000430487:T187M	ENSP00000254898:T187M	T	+	2	0	MATN2	99012774	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.978000	0.70501	2.836000	0.97738	0.655000	0.94253	ACG	C|0.889;T|0.111	0.111	strong		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	98943598	C	T	98943598	3	4	23	1	0	0	0	0	1	0	0	0	9334	536	19	1	566	1	MATN2	8	98943598	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	53	98943598	47420424	2189	18645										
MATN2	4147	hgsc.bcm.edu	37	chr8	99006736	99006736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactgtgcctcatctaatcaCggatgtcagcacgagtgtgt	10	10	4	0	rs11559202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:99006736C>T	ENST00000520016.1	+	6	1234	c.1110C>T	c.(1108-1110)caC>caT	p.H370H	MATN2_ENST00000521689.1_Silent_p.H370H|MATN2_ENST00000254898.5_Silent_p.H370H|MATN2_ENST00000524308.1_Intron|MATN2_ENST00000522025.2_Silent_p.H86H			O00339	MATN2_HUMAN	matrilin 2	370	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATCTAATCACGGATGTCAGC	0.428													C|||	609	0.121605	0.1505	0.1052	5008	,	,		18994	0.0774		0.1471	False		,,,				2504	0.1135				p.H370H		Atlas-SNP	.											.	MATN2	165	.	0			c.C1110T						PASS	.	C	,	518,3370		29,460,1455	194	189	190		1110,1110	-11.5	0	8	dbSNP_120	190	1435,6851		126,1183,2834	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	155,1643,4289	TT,TC,CC		17.3184,13.323,16.0424	,	370/957,370/938	99006736	1953,10221	1944	4143	6087	SO:0001819	synonymous_variant	4147	exon7			TAATCACGGATGT	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1110C>T	8.37:g.99006736C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	156	62	0.397436	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	263	0.12042124542124542	74	0.15040650406504066	42	0.11602209944751381	37	0.06468531468531469	110	0.14511873350923482	C	2.388	-0.340579	0.05243	0.13323	0.173184	ENSG00000132561	ENST00000518154;ENST00000521041	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.20926	P	0.999823375	.	.	.	.	.	.	T	0.19160	-1.0314	3	.	.	.	-19.9164	13.3653	0.60680	0.0779:0.5461:0.0:0.376	rs11559202;rs17850659;rs11559202	.	.	.	W	153;125	.	.	R	+	1	2	MATN2	99075912	0.001000	0.12720	0.006000	0.13384	0.489000	0.33432	-2.225000	0.01212	-3.033000	0.00265	-1.740000	0.00687	CGG	C|0.872;T|0.128	0.128	strong		0.428	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99006736	C	T	99006736	2	4	23	1	0	0	0	0	0	0	0	1	9334	535	19	1		1	MATN2	8	99006736	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63138	99006736	47357286	2190	18646										
MATN2	4147	hgsc.bcm.edu	37	chr8	99006748	99006748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctaatcacggatgtcagcaCgagtgtgttaacacagatga	10	8	3	2	rs11559201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:99006748C>T	ENST00000520016.1	+	6	1246	c.1122C>T	c.(1120-1122)caC>caT	p.H374H	MATN2_ENST00000521689.1_Silent_p.H374H|MATN2_ENST00000254898.5_Silent_p.H374H|MATN2_ENST00000524308.1_Intron|MATN2_ENST00000522025.2_Silent_p.H90H			O00339	MATN2_HUMAN	matrilin 2	374	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GATGTCAGCACGAGTGTGTTA	0.423													C|||	610	0.121805	0.1513	0.1052	5008	,	,		18606	0.0774		0.1471	False		,,,				2504	0.1135				p.H374H		Atlas-SNP	.											.	MATN2	165	.	0			c.C1122T						PASS	.	C	,	518,3382		29,460,1461	176	173	174		1122,1122	-11.5	0	8	dbSNP_120	174	1436,6846		126,1184,2831	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	155,1644,4292	TT,TC,CC		17.3388,13.2821,16.0401	,	374/957,374/938	99006748	1954,10228	1950	4141	6091	SO:0001819	synonymous_variant	4147	exon7			TCAGCACGAGTGT	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1122C>T	8.37:g.99006748C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	153	58	0.379085	NM_002380	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	263	0.12042124542124542	74	0.15040650406504066	42	0.11602209944751381	37	0.06468531468531469	110	0.14511873350923482	C	3.537	-0.094593	0.07053	0.132821	0.173388	ENSG00000132561	ENST00000518154;ENST00000521041	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999863628	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.0438	8.8597	0.35249	0.0652:0.1537:0.1297:0.6513	rs11559201;rs17850660;rs17858379;rs58845670;rs11559201	.	.	.	X	157;129	.	.	R	+	1	2	MATN2	99075924	0.000000	0.05858	0.048000	0.18961	0.667000	0.39255	-2.725000	0.00808	-3.721000	0.00115	-1.595000	0.00837	CGA	C|0.872;T|0.128	0.128	strong		0.423	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99006748	C	T	99006748	2	4	23	1	0	0	0	0	0	0	0	1	9334	535	19	1		1	MATN2	8	99006748	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12	99006748	47357274	2191	18647										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100874154	100874154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttcgacagggcctgtcccGgctgggcatcagcctgcttg	14	14	1	0	rs149318176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:100874154G>A	ENST00000358544.2	+	58	11381	c.11270G>A	c.(11269-11271)cGg>cAg	p.R3757Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R3732Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3757					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGCCTGTCCCGGCTGGGCATC	0.677													G|||	5	0.000998403	0.0	0.0014	5008	,	,		14908	0.0		0.001	False		,,,				2504	0.0031				p.R3757Q	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.G11270A						PASS	.	G	GLN/ARG,GLN/ARG	0,4392		0,0,2196	16	18	18		11270,11195	5.8	1	8	dbSNP_134	18	23,8565		0,23,4271	yes	missense,missense	VPS13B	NM_017890.3,NM_152564.3	43,43	0,23,6467	AA,AG,GG		0.2678,0.0,0.1772	probably-damaging,probably-damaging	3757/4023,3732/3998	100874154	23,12957	2196	4294	6490	SO:0001583	missense	157680	exon58			TGTCCCGGCTGGG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11270G>A	8.37:g.100874154G>A	ENSP00000351346:p.Arg3757Gln	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	83	28	0.337349	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463122	0.96257	0.0	0.002678	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69306	-0.39;-0.39	5.78	5.78	0.91487	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.948;0.998	T	0.74873	-0.3516	10	0.41790	T	0.15	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	3732;3757	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	3732;3757	ENSP00000349685:R3732Q;ENSP00000351346:R3757Q	ENSP00000349685:R3732Q	R	+	2	0	VPS13B	100943330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.729000	0.93468	0.650000	0.86243	CGG	G|0.998;A|0.002	0.002	strong		0.677	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100874154	G	A	100874154	3	1	23	1	0	0	0	0	1	0	0	0	17187	1116	39	1	11690	1	VPS13B	8	100874154	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1867406	100874154	45489868	2192	18648										
COX6C	1345	hgsc.bcm.edu	37	chr8	100899793	100899793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaaatctttcatgacatcGtagtttctgtagaaatctgc	6	8	5	2	rs1130569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:100899793G>A	ENST00000520468.2	-	3	622	c.168C>T	c.(166-168)taC>taT	p.Y56Y	COX6C_ENST00000522940.1_Silent_p.Y56Y|COX6C_ENST00000518171.1_Silent_p.Y56Y|COX6C_ENST00000297564.2_Silent_p.Y56Y|COX6C_ENST00000517682.2_Silent_p.Y56Y|COX6C_ENST00000523016.1_Silent_p.Y56Y|COX6C_ENST00000520271.1_Silent_p.Y56Y|COX6C_ENST00000524245.1_Silent_p.Y56Y	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	56					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.Y56Y(1)	HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCATGACATCGTAGTTTCTGT	0.343			T	HMGA2	uterine leiomyoma								A|||	1249	0.249401	0.5265	0.1758	5008	,	,		17900	0.13		0.1819	False		,,,				2504	0.1196				p.Y56Y	NSCLC(46;1123 1136 1705 23767 45086)	Atlas-SNP	.		Dom	yes		8	8q22-q23	1345	cytochrome c oxidase subunit VIc		M	COX6C_ENST00000520468,NS,carcinoma,0,1	COX6C	25	1	1	Substitution - coding silent(1)	stomach(1)	c.C168T						PASS	.	A		2157,2249	592.6+/-387.8	520,1117,566	59	60	60		168	4.4	1	8	dbSNP_86	60	1546,7050	744.5+/-407.2	123,1300,2875	no	coding-synonymous	COX6C	NM_004374.3		643,2417,3441	AA,AG,GG		17.9851,48.956,28.4802		56/76	100899793	3703,9299	2203	4298	6501	SO:0001819	synonymous_variant	1345	exon3			GACATCGTAGTTT	X13238	CCDS6284.1	8q22.2	2011-07-04			ENSG00000164919	ENSG00000164919	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2285	protein-coding gene	gene with protein product		124090				10072584	Standard	NM_004374		Approved		uc003yiy.2	P09669	OTTHUMG00000164703	ENST00000520468.2:c.168C>T	8.37:g.100899793G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	82	44	0.536585	NM_004374	B2R4D7	Silent	SNP	ENST00000520468.2	37	CCDS6284.1																																																																																			G|0.733;A|0.267	0.267	strong		0.343	COX6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379834.3	NM_004374		A	100899793	G	A	100899793	2	1	23	1	0	0	0	0	0	0	0	1	3778	1140	40	1		1	COX6C	8	100899793	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25639	100899793	45464229	2193	18649										
GRHL2	79977	hgsc.bcm.edu	37	chr8	102570987	102570987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctatctcaaagacgaccagCgcagcactccggacagcaca	8	16	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:102570987C>T	ENST00000251808.3	+	4	963	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	GRHL2_ENST00000395927.1_Missense_Mutation_p.R193C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	209					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)			AGACGACCAGCGCAGCACTCC	0.602																																					p.R209C		Atlas-SNP	.											GRHL2,colon,carcinoma,-1,1	GRHL2	68	1	0			c.C625T						scavenged	.						39	34	36					8																	102570987		2203	4300	6503	SO:0001583	missense	79977	exon4			GACCAGCGCAGCA	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.625C>T	8.37:g.102570987C>T	ENSP00000251808:p.Arg209Cys	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	175	2	0.0114286	NM_024915	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105942	0.56291	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.13420	2.59;2.59	5.33	5.33	0.75918	.	0.106801	0.64402	D	0.000003	T	0.33440	0.0863	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.523	D;B	0.87578	0.998;0.344	T	0.01715	-1.1289	10	0.56958	D	0.05	-19.875	19.0278	0.92939	0.0:1.0:0.0:0.0	.	209;209	B4DL28;Q6ISB3	.;GRHL2_HUMAN	C	209;193;209	ENSP00000251808:R209C;ENSP00000379260:R193C	ENSP00000251808:R209C	R	+	1	0	GRHL2	102640163	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.979000	0.63806	2.489000	0.83994	0.643000	0.83706	CGC	.	.	none		0.602	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		T	102570987	C	T	102570987	3	4	23	1	0	0	0	0	1	0	0	0	6764	768	27	1	639	1	GRHL2	8	102570987	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1671194	102570987	43793035	2194	18650										
UBR5	51366	hgsc.bcm.edu	37	chr8	103307434	103307434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttaatgaatacgtacggGtctttattctcctgcgaccc	8	10	2	1	rs34739767	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:103307434G>A	ENST00000520539.1	-	31	4662	c.4056C>T	c.(4054-4056)gaC>gaT	p.D1352D	UBR5_ENST00000220959.4_Silent_p.D1352D|UBR5_ENST00000521922.1_Silent_p.D1346D|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1352					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACGTACGGGTCTTTATTCT	0.398													G|||	147	0.029353	0.003	0.1081	5008	,	,		19573	0.001		0.0318	False		,,,				2504	0.0358				p.D1352D	Ovarian(131;96 1741 5634 7352 27489)	Atlas-SNP	.											.	UBR5	285	.	0			c.C4056T						PASS	.	G		36,4370	41.6+/-74.8	0,36,2167	72	70	71		4056	-0.5	1	8	dbSNP_126	71	340,8260	117.0+/-176.6	11,318,3971	no	coding-synonymous	UBR5	NM_015902.5		11,354,6138	AA,AG,GG		3.9535,0.8171,2.891		1352/2800	103307434	376,12630	2203	4300	6503	SO:0001819	synonymous_variant	51366	exon31			GTACGGGTCTTTA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4056C>T	8.37:g.103307434G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	200	47	0.235	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																			G|0.972;A|0.028	0.028	strong		0.398	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		A	103307434	G	A	103307434	2	1	23	1	0	0	0	0	0	0	0	1	16902	1252	44	2		2	UBR5	8	103307434	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	736447	103307434	43056588	2195	18651										
UBR5	51366	hgsc.bcm.edu	37	chr8	103307971	103307971	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttacatttacatttctcCcaacaatcacagtaggctgt	5	10	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:103307971C>T	ENST00000520539.1	-	29	4311	c.3705G>A	c.(3703-3705)tgG>tgA	p.W1235*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.W1235*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.W1229*|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1235					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACATTTCTCCCAACAATCAC	0.363																																					p.W1235X	Ovarian(131;96 1741 5634 7352 27489)	Atlas-SNP	.											UBR5,NS,carcinoma,-1,1	UBR5	285	1	0			c.G3705A						scavenged	.						106	98	101					8																	103307971		2203	4300	6503	SO:0001587	stop_gained	51366	exon29			TTTCTCCCAACAA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3705G>A	8.37:g.103307971C>T	ENSP00000429084:p.Trp1235*	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	266	3	0.0112782	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	48	13.903934	0.99769	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.67	5.67	0.87782	.	0.061149	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	X	1235;1235;1229	.	ENSP00000220959:W1235X	W	-	3	0	UBR5	103377147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.506000	0.81665	2.833000	0.97629	0.585000	0.79938	TGG	.	.	none		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103307971	C	T	103307971	4	4	23	1	0	0	0	0	0	1	0	0	16902	624	22	2	4818	2	UBR5	8	103307971	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	537	103307971	43056051	2196	18652										
FZD6	8323	hgsc.bcm.edu	37	chr8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatttccttaaatcatgttCgacaagtcatacaacatgat	4	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:104337523C>T	ENST00000358755.4	+	4	1506	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	397					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418																																					p.R397X		Atlas-SNP	.											FZD6,NS,carcinoma,-1,1	FZD6	61	1	0			c.C1189T						scavenged	.						190	188	188					8																	104337523		2203	4300	6503	SO:0001587	stop_gained	8323	exon4			CATGTTCGACAAG	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1189C>T	8.37:g.104337523C>T	ENSP00000351605:p.Arg397*	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	256	3	0.0117188	NM_003506	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074534	0.98640	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	6.03	5.16	0.70880	.	0.059527	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4324	0.75112	0.0:0.9336:0.0:0.0664	.	.	.	.	X	397;397;365;92;342	.	ENSP00000351605:R397X	R	+	1	2	FZD6	104406699	1.000000	0.71417	0.935000	0.37517	0.983000	0.72400	4.888000	0.63164	1.567000	0.49668	0.557000	0.71058	CGA	.	.	none		0.418	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		T	104337523	C	T	104337523	4	4	23	1	0	0	0	0	0	1	0	0	6134	876	31	1	1199	1	FZD6	8	104337523	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1029552	104337523	42026499	2197	18653										
TM7SF4	81501	hgsc.bcm.edu	37	chr8	105361354	105361354	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctaaatgacagcaaagggGaagtcctgagcgtcttgtac	12	8	1	2	rs67114147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:105361354G>C	ENST00000297581.2	+	2	623	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.E192Q	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	192					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAGCAAAGGGGAAGTCCTGAG	0.522													G|||	583	0.116414	0.0605	0.1859	5008	,	,		18345	0.1319		0.1272	False		,,,				2504	0.1155				p.E192Q		Atlas-SNP	.											.	.	.	.	0			c.G574C						PASS	.	G	GLN/GLU	350,4056	178.3+/-207.1	18,314,1871	104	96	99		574	-1.9	0	8	dbSNP_130	99	1136,7464	231.0+/-265.1	82,972,3246	yes	missense	TM7SF4	NM_030788.2	29	100,1286,5117	CC,CG,GG		13.2093,7.9437,11.4255	benign	192/471	105361354	1486,11520	2203	4300	6503	SO:0001583	missense	81501	exon2			AAAGGGGAAGTCC	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.574G>C	8.37:g.105361354G>C	ENSP00000297581:p.Glu192Gln	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_001257317	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	259	0.11858974358974358	34	0.06910569105691057	72	0.19889502762430938	56	0.0979020979020979	97	0.1279683377308707	G	9.109	1.006175	0.19199	0.079437	0.132093	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.33216	1.42	5.53	-1.86	0.07760	.	0.517494	0.23175	N	0.051088	T	0.00039	0.0001	L	0.34521	1.04	0.54753	P	1.2000000000012001E-5	B	0.21071	0.051	B	0.16722	0.016	T	0.33727	-0.9857	8	.	.	.	-1.1699	11.861	0.52465	0.0768:0.5286:0.3946:0.0	.	192	Q9H295	TM7S4_HUMAN	Q	192	ENSP00000297581:E192Q	.	E	+	1	0	TM7SF4	105430530	0.138000	0.22547	0.010000	0.14722	0.873000	0.50193	-0.341000	0.07811	-0.817000	0.04335	0.561000	0.74099	GAA	G|0.883;C|0.117	0.117	strong		0.522	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		C	105361354	G	C	105361354	3	2	23	1	0	0	0	0	1	0	0	0	15973	1175	41	4	576	4	TM7SF4	8	105361354	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1023831	105361354	41002668	2198	18654										
OXR1	55074	hgsc.bcm.edu	37	chr8	107719336	107719336	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtgtcacaaaaagaagcTaagcataaaattacatctgc	6	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:107719336T>C	ENST00000442977.2	+	8	1689	c.1590T>C	c.(1588-1590)gcT>gcC	p.A530A	OXR1_ENST00000517566.2_Silent_p.A529A|OXR1_ENST00000531443.1_Silent_p.A529A|OXR1_ENST00000497705.1_Silent_p.A462A|OXR1_ENST00000445937.1_Silent_p.A529A|OXR1_ENST00000312046.6_Silent_p.A522A|OXR1_ENST00000452423.2_Silent_p.A19A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	530					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGAAGCTAAGCATAAAA	0.368																																					p.A530A		Atlas-SNP	.											OXR1_ENST00000442977,NS,carcinoma,+1,3	OXR1	190	3	0			c.T1590C						scavenged	.						75	74	74					8																	107719336		2203	4300	6503	SO:0001819	synonymous_variant	55074	exon8			AGAAGCTAAGCAT	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1590T>C	8.37:g.107719336T>C		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_001198532	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	T	7.212	0.595695	0.13875	.	.	ENSG00000164830	ENST00000519415	.	.	.	5.62	1.63	0.23807	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40646	-0.9552	4	.	.	.	-23.5587	5.8173	0.18500	0.0:0.2102:0.3773:0.4126	.	.	.	.	P	243	.	.	L	+	2	0	OXR1	107788512	0.003000	0.15002	0.860000	0.33809	0.830000	0.47004	-0.604000	0.05667	0.388000	0.25054	0.482000	0.46254	CTA	.	.	none		0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		C	107719336	T	C	107719336	2	2	23	1	0	0	0	0	0	0	0	1	11334	1509	53	3		3	OXR1	8	107719336	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2357982	107719336	38644686	2199	18655										
OXR1	55074	hgsc.bcm.edu	37	chr8	107754473	107754473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttggtgcgttagcatctgaGccactgaaagtgagtgatgg	14	6	1	4	rs1681904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:107754473G>A	ENST00000442977.2	+	14	2442	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	OXR1_ENST00000449762.2_Silent_p.E123E|OXR1_ENST00000517566.2_Silent_p.E780E|OXR1_ENST00000521592.1_Silent_p.E26E|OXR1_ENST00000531443.1_Silent_p.E753E|OXR1_ENST00000445937.1_Silent_p.E753E|OXR1_ENST00000312046.6_Silent_p.E746E|OXR1_ENST00000452423.2_Silent_p.E201E|OXR1_ENST00000297447.6_Silent_p.E150E	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	781	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAGCATCTGAGCCACTGAAAG	0.343													G|||	1911	0.381589	0.2057	0.5216	5008	,	,		16724	0.3492		0.4433	False		,,,				2504	0.4898				p.E781E		Atlas-SNP	.											.	OXR1	190	.	0			c.G2343A						PASS	.	G	,,,,,	1065,3341	388.4+/-326.9	123,819,1261	194	180	185		2343,2340,450,369,2259,2238	4.3	1	8	dbSNP_89	185	3733,4867	530.5+/-381.8	804,2125,1371	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OXR1	NM_001198532.1,NM_001198533.1,NM_001198534.1,NM_001198535.1,NM_018002.3,NM_181354.4	,,,,,	927,2944,2632	AA,AG,GG		43.407,24.1716,36.8907	,,,,,	781/875,780/874,150/244,123/217,753/847,746/840	107754473	4798,8208	2203	4300	6503	SO:0001819	synonymous_variant	55074	exon14			ATCTGAGCCACTG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2343G>A	8.37:g.107754473G>A		Somatic	230	2	0.00869565		WXS	Illumina HiSeq	Phase_I	289	287	0.99308	NM_001198532	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	CCDS56548.1	838	0.3836996336996337	100	0.2032520325203252	181	0.5	213	0.3723776223776224	344	0.45382585751978893	G	8.497	0.863313	0.17250	0.241716	0.43407	ENSG00000164830	ENST00000519415	.	.	.	5.46	4.35	0.52113	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.51834	-0.8655	3	.	.	.	-12.3073	6.9569	0.24576	0.2445:0.0:0.7555:0.0	rs1681904;rs11538335;rs17351853;rs1681904	.	.	.	N	425	.	.	S	+	2	0	OXR1	107823649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.822000	0.39052	2.715000	0.92844	0.563000	0.77884	AGC	G|0.627;A|0.373	0.373	strong		0.343	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		A	107754473	G	A	107754473	2	1	23	1	0	0	0	0	0	0	0	1	11334	962	34	2		2	OXR1	8	107754473	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	35137	107754473	38609549	2200	18656										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110447512	110447512	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggactagcacagaatgtagGgggtgaagagttctactttg	14	5	1	3	rs142972518	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:110447512G>C	ENST00000378402.5	+	29	3538	c.3434G>C	c.(3433-3435)gGg>gCg	p.G1145A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1145	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAATGTAGGGGGTGAAGAG	0.443										HNSCC(38;0.096)			G|||	58	0.0115815	0.0015	0.0101	5008	,	,		18338	0.0		0.0268	False		,,,				2504	0.0225				p.G1145A		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.G3434C						PASS	.	G	ALA/GLY	15,3743		0,15,1864	197	197	197		3434	-2.3	0	8	dbSNP_134	197	167,8083		3,161,3961	yes	missense	PKHD1L1	NM_177531.4	60	3,176,5825	CC,CG,GG		2.0242,0.3991,1.5157	benign	1145/4244	110447512	182,11826	1879	4125	6004	SO:0001583	missense	93035	exon29			ATGTAGGGGGTGA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3434G>C	8.37:g.110447512G>C	ENSP00000367655:p.Gly1145Ala	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	251	97	0.386454	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	27	0.012362637362637362	0	0.0	5	0.013812154696132596	0	0.0	22	0.029023746701846966	G	2.585	-0.296544	0.05532	0.003991	0.020242	ENSG00000205038	ENST00000378402	D	0.85702	-2.02	6.07	-2.3	0.06785	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.912531	0.09435	N	0.802529	T	0.53142	0.1778	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.21360	0.034	T	0.50074	-0.8870	10	0.12103	T	0.63	.	12.0147	0.53307	0.3405:0.0:0.6595:0.0	.	1145	Q86WI1	PKHL1_HUMAN	A	1145	ENSP00000367655:G1145A	ENSP00000367655:G1145A	G	+	2	0	PKHD1L1	110516688	0.005000	0.15991	0.000000	0.03702	0.004000	0.04260	0.643000	0.24750	-0.303000	0.08856	-0.768000	0.03414	GGG	G|0.986;C|0.014	0.014	strong		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110447512	G	C	110447512	3	2	23	1	0	0	0	0	1	0	0	0	11972	1232	43	4	3548	4	PKHD1L1	8	110447512	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2693039	110447512	35916510	2201	18657										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110510964	110510964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccccatgcaggaatcatgAgttacaatgccatcagtggc	10	11	2	1	rs191412861	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:110510964A>C	ENST00000378402.5	+	67	10896	c.10792A>C	c.(10792-10794)Agt>Cgt	p.S3598R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3598					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAATCATGAGTTACAATGC	0.408										HNSCC(38;0.096)			A|||	28	0.00559105	0.0008	0.0072	5008	,	,		16193	0.0		0.005	False		,,,				2504	0.0174				p.S3598R		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.A10792C						PASS	.	A	ARG/SER	2,3744		0,2,1871	81	77	78		10792	6	1	8		78	48,8134		1,46,4044	yes	missense	PKHD1L1	NM_177531.4	110	1,48,5915	CC,CA,AA		0.5867,0.0534,0.4192	probably-damaging	3598/4244	110510964	50,11878	1873	4091	5964	SO:0001583	missense	93035	exon67			ATCATGAGTTACA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10792A>C	8.37:g.110510964A>C	ENSP00000367655:p.Ser3598Arg	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	217	73	0.336406	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	5	0.0022893772893772895	0	0.0	3	0.008287292817679558	0	0.0	2	0.002638522427440633	A	26.4	4.731514	0.89390	5.34E-4	0.005867	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86865	-2.18;-1.99	6.02	6.02	0.97574	.	0.109105	0.64402	D	0.000010	D	0.83723	0.5316	M	0.78637	2.42	0.40619	D	0.981744	B	0.25719	0.132	B	0.22601	0.04	D	0.84175	0.0436	10	0.59425	D	0.04	.	14.5014	0.67724	1.0:0.0:0.0:0.0	.	3598	Q86WI1	PKHL1_HUMAN	R	3598;526	ENSP00000367655:S3598R;ENSP00000437376:S526R	ENSP00000367655:S3598R	S	+	1	0	PKHD1L1	110580140	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.683000	0.84093	2.299000	0.77371	0.528000	0.53228	AGT	A|0.997;C|0.003	0.003	strong		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110510964	A	C	110510964	3	2	23	1	0	0	0	0	1	0	0	0	11972	304	11	5	11058	5	PKHD1L1	8	110510964	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	63452	110510964	35853058	2202	18658										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113363466	113363466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcatacatgtaatgtgaGagtgaccctacataaacaaa	8	8	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:113363466G>A	ENST00000297405.5	-	40	6507	c.6263C>T	c.(6262-6264)tCt>tTt	p.S2088F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2048F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2018F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1984F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2088	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTAATGTGAGAGTGACCCTA	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S2088F		Atlas-SNP	.											.	CSMD3	2325	.	0			c.C6263T						PASS	.						120	122	121					8																	113363466		2203	4292	6495	SO:0001583	missense	114788	exon40			ATGTGAGAGTGAC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6263C>T	8.37:g.113363466G>A	ENSP00000297405:p.Ser2088Phe	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	20	0.224719	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226833	0.79576	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.32	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.087525	0.48286	D	0.000186	T	0.79919	0.4529	M	0.81614	2.55	0.54753	D	0.999985	D;P;D	0.89917	0.973;0.921;1.0	P;P;D	0.79784	0.847;0.722;0.993	T	0.82573	-0.0390	10	0.54805	T	0.06	.	17.3411	0.87296	0.0:0.0:1.0:0.0	.	1984;2088;2048	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2048;2088;1358;1984;2018	ENSP00000345799:S2048F;ENSP00000297405:S2088F;ENSP00000341558:S1358F;ENSP00000412263:S1984F;ENSP00000343124:S2018F	ENSP00000297405:S2088F	S	-	2	0	CSMD3	113432642	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.772000	0.85439	2.380000	0.81148	0.650000	0.86243	TCT	.	.	none		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113363466	G	A	113363466	3	1	23	1	0	0	0	0	1	0	0	0	3946	942	33	2	4988	2	CSMD3	8	113363466	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2852502	113363466	33000556	2203	18659										
CSMD3	114788	hgsc.bcm.edu	37	chr8	114186003	114186003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtattaactgaattggcTatgcaggtgagctgagggtg	15	5	0	3	rs2219898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:114186003T>C	ENST00000297405.5	-	4	901	c.657A>G	c.(655-657)atA>atG	p.I219M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I179M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I219M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I219M|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	219	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		I -> M (in dbSNP:rs2219898). {ECO:0000269|PubMed:12943675}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATTGGCTATGCAGGTGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T|||	2334	0.466054	0.4365	0.611	5008	,	,		17045	0.6766		0.2674	False		,,,				2504	0.3906				p.I219M		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A657G						PASS	.	T	MET/ILE,MET/ILE,MET/ILE	1761,2645	524.6+/-371.4	368,1025,810	134	125	128		657,657,537	1.1	1	8	dbSNP_96	128	2303,6297	387.9+/-342.4	309,1685,2306	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	10,10,10	677,2710,3116	CC,CT,TT		26.7791,39.9682,31.2471	possibly-damaging,possibly-damaging,possibly-damaging	219/3539,219/3708,179/3668	114186003	4064,8942	2203	4300	6503	SO:0001583	missense	114788	exon4			ATTGGCTATGCAG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.657A>G	8.37:g.114186003T>C	ENSP00000297405:p.Ile219Met	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	261	143	0.547893	NM_052900	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	1012	0.4633699633699634	229	0.4654471544715447	195	0.5386740331491713	395	0.6905594405594405	193	0.2546174142480211	T	7.868	0.727602	0.15439	0.399682	0.267791	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.09	1.06	0.20224	Complement control module (2);Sushi/SCR/CCP (3);	0.186890	0.33631	N	0.004715	T	0.00012	0.0000	N	0.25245	0.725	0.44643	P	0.0023729999999999585	P;P;P;P	0.51653	0.828;0.571;0.947;0.708	B;B;P;P	0.52159	0.392;0.168;0.691;0.622	T	0.25745	-1.0123	9	0.37606	T	0.19	.	7.6324	0.28247	0.1313:0.0:0.2743:0.5944	rs2219898;rs52789540;rs58255477;rs2219898	219;219;219;179	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	M	179;219;219;219	ENSP00000345799:I179M;ENSP00000297405:I219M;ENSP00000412263:I219M;ENSP00000343124:I219M	ENSP00000297405:I219M	I	-	3	3	CSMD3	114255179	0.994000	0.37717	0.999000	0.59377	0.996000	0.88848	0.054000	0.14205	0.003000	0.14656	0.528000	0.53228	ATA	T|0.622;C|0.378	0.378	strong		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	114186003	T	C	114186003	3	2	23	1	0	0	0	0	1	0	0	0	3946	1512	53	3	10738	3	CSMD3	8	114186003	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	822537	114186003	32178019	2204	18660										
SLC30A8	169026	hgsc.bcm.edu	37	chr8	118184783	118184783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttatcaacagcagccagcCgggacagccaagtggttcgg	12	12	1	0	rs13266634	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:118184783C>T	ENST00000456015.2	+	8	973	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	SLC30A8_ENST00000521243.1_Missense_Mutation_p.R276W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R276W|SLC30A8_ENST00000427715.2_Missense_Mutation_p.R276W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	325			R -> Q (in dbSNP:rs16889462).|R -> W (in dbSNP:rs13266634). {ECO:0000269|PubMed:17293876}.		cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCAGCCAGCCGGGACAGCCA	0.488													C|||	1278	0.255192	0.0741	0.2666	5008	,	,		19655	0.4573		0.2833	False		,,,				2504	0.2546				p.R325W	Ovarian(162;1202 1922 6011 16223 52092)	Atlas-SNP	.											.	SLC30A8	102	.	0			c.C973T	GRCh37	CM072050	SLC30A8	M	rs13266634	PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	426,3980	206.2+/-227.9	18,390,1795	85	83	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	826,826,826,826,973	-1.8	0.9	8	dbSNP_121	84	2564,6036	418.7+/-352.8	398,1768,2134	yes	missense,missense,missense,missense,missense	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	101,101,101,101,101	416,2158,3929	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	29.814,9.6686,22.9894	benign,benign,benign,benign,benign	276/321,276/321,276/321,276/321,325/370	118184783	2990,10016	2203	4300	6503	SO:0001583	missense	169026	exon8			GCCAGCCGGGACA		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.973C>T	8.37:g.118184783C>T	ENSP00000415011:p.Arg325Trp	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	159	62	0.389937	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	616	0.28205128205128205	41	0.08333333333333333	95	0.26243093922651933	263	0.4597902097902098	217	0.2862796833773087	C	11.92	1.783088	0.31593	0.096686	0.29814	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.15	-1.75	0.08031	.	1.130630	0.06487	N	0.733902	T	0.00012	0.0000	L	0.49778	1.585	0.54753	P	1.2000000000012001E-5	B	0.09022	0.002	B	0.04013	0.001	T	0.42982	-0.9419	9	0.62326	D	0.03	0.3986	0.8731	0.01218	0.2334:0.3419:0.1149:0.3098	rs13266634;rs17813302;rs57876063;rs13266634	325	Q8IWU4	ZNT8_HUMAN	W	276;276;276;325	ENSP00000428545:R276W;ENSP00000407505:R276W;ENSP00000431069:R276W;ENSP00000415011:R325W	ENSP00000407505:R276W	R	+	1	2	SLC30A8	118253964	0.000000	0.05858	0.922000	0.36590	0.584000	0.36387	-0.403000	0.07214	-0.224000	0.09928	0.650000	0.86243	CGG	C|0.758;T|0.242	0.242	strong		0.488	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		T	118184783	C	T	118184783	3	4	23	1	0	0	0	0	1	0	0	0	14561	643	23	1	1003	1	SLC30A8	8	118184783	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3998780	118184783	28179239	2205	18661										
EXT1	2131	hgsc.bcm.edu	37	chr8	118847782	118847782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctgagcatcacagggacGcaggcagcctgagcaaaaaa	12	10	1	2	rs11546829	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:118847782G>A	ENST00000378204.2	-	3	1871	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	355					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.C355C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCACAGGGACGCAGGCAGCCT	0.478			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				G|||	871	0.173922	0.0908	0.3069	5008	,	,		19602	0.0853		0.2684	False		,,,				2504	0.1861				p.C355C		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	EXT1,NS,carcinoma,0,1	EXT1	98	1	1	Substitution - coding silent(1)	stomach(1)	c.C1065T						PASS	.	G		556,3850	250.0+/-257.2	32,492,1679	93	80	85		1065	1.4	1	8	dbSNP_120	85	2644,5956	427.4+/-355.6	415,1814,2071	no	coding-synonymous	EXT1	NM_000127.2		447,2306,3750	AA,AG,GG		30.7442,12.6192,24.604		355/747	118847782	3200,9806	2203	4300	6503	SO:0001819	synonymous_variant	2131	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	AGGGACGCAGGCA	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1065C>T	8.37:g.118847782G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	116	43	0.37069	NM_000127	B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	CCDS6324.1	421	0.19276556776556777	46	0.09349593495934959	113	0.31215469613259667	50	0.08741258741258741	212	0.2796833773087071	g	10.46	1.356943	0.24598	0.126192	0.307442	ENSG00000182197	ENST00000436216	.	.	.	5.77	1.38	0.22167	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.24905	-1.0147	3	.	.	.	-14.1796	10.3835	0.44125	0.6261:0.0:0.3739:0.0	rs11546829;rs17439875;rs17474651;rs17439875	.	.	.	C	145	.	.	R	-	1	0	EXT1	118916963	0.906000	0.30813	0.998000	0.56505	0.986000	0.74619	0.094000	0.15107	0.002000	0.14630	-0.137000	0.14449	CGT	G|0.774;A|0.226	0.226	strong		0.478	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		A	118847782	G	A	118847782	2	1	23	1	0	0	0	0	0	0	0	1	5323	1079	38	1		1	EXT1	8	118847782	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	662999	118847782	27516240	2206	18662										
TNFRSF11B	4982	hgsc.bcm.edu	37	chr8	119945484	119945484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtttcttcgtcataatgaAggtactttggaggaaacgtt	11	5	2	1	rs144062067	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:119945484A>G	ENST00000297350.4	-	2	464	c.86T>C	c.(85-87)cTt>cCt	p.L29P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443																																					p.L29P		Atlas-SNP	.											TNFRSF11B,NS,carcinoma,0,1	TNFRSF11B	87	1	2	Substitution - Missense(2)	prostate(2)	c.T86C						scavenged	.	A	PRO/LEU	3,4403	6.2+/-15.9	0,3,2200	227	216	220		86	6.2	1	8	dbSNP_134	220	0,8600		0,0,4300	no	missense	TNFRSF11B	NM_002546.3	98	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	probably-damaging	29/402	119945484	3,13003	2203	4300	6503	SO:0001583	missense	4982	exon2			TAATGAAGGTACT	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.86T>C	8.37:g.119945484A>G	ENSP00000297350:p.Leu29Pro	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	114	3	0.0263158	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	A	4.646	0.120168	0.08881	6.81E-4	0.0	ENSG00000164761	ENST00000297350	T	0.72282	-0.64	6.17	6.17	0.99709	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.326569	0.32416	N	0.006136	T	0.58750	0.2144	L	0.37750	1.13	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.54275	-0.8318	9	.	.	.	-22.2212	10.4761	0.44665	0.9279:0.0:0.0721:0.0	.	29	O00300	TR11B_HUMAN	P	29	ENSP00000297350:L29P	.	L	-	2	0	TNFRSF11B	120014665	1.000000	0.71417	0.995000	0.50966	0.268000	0.26511	1.175000	0.31944	2.371000	0.80710	0.533000	0.62120	CTT	A|1.000;G|0.000	0.000	strong		0.443	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			G	119945484	A	G	119945484	3	3	23	1	0	0	0	0	1	0	0	0	16282	72	3	3	1135	3	TNFRSF11B	8	119945484	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1097702	119945484	26418538	2207	18663										
DERL1	79139	hgsc.bcm.edu	37	chr8	124031541	124031541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttccaataagctcattgaTtaccctgcaaagagagccaa	6	10	1	2	rs2272722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:124031541T>C	ENST00000259512.4	-	7	811	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	DERL1_ENST00000519018.1_Missense_Mutation_p.I71V|DERL1_ENST00000523036.1_Missense_Mutation_p.I71V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000419562.2_Missense_Mutation_p.I71V	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	171			I -> V (in dbSNP:rs2272722).		endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGCTCATTGATTACCCTGCAA	0.388													T|||	265	0.0529153	0.0953	0.0677	5008	,	,		21308	0.005		0.0626	False		,,,				2504	0.0245				p.I171V		Atlas-SNP	.											.	DERL1	27	.	0			c.A511G						PASS	.	T	,VAL/ILE	321,4085	169.1+/-199.8	13,295,1895	64	62	62		,511	4.4	0.8	8	dbSNP_100	62	695,7905	171.3+/-222.3	28,639,3633	yes	intron,missense	DERL1	NM_001134671.1,NM_024295.4	,29	41,934,5528	CC,CT,TT		8.0814,7.2855,7.8118	,benign	,171/252	124031541	1016,11990	2203	4300	6503	SO:0001583	missense	79139	exon7			CATTGATTACCCT	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.511A>G	8.37:g.124031541T>C	ENSP00000259512:p.Ile171Val	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	147	56	0.380952	NM_024295	B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	CCDS6337.1	136	0.06227106227106227	54	0.10975609756097561	35	0.09668508287292818	3	0.005244755244755245	44	0.05804749340369393	T	4.278	0.050812	0.08243	0.072855	0.080814	ENSG00000136986	ENST00000259512;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.61	4.45	0.53987	.	0.234322	0.45867	D	0.000330	T	0.00241	0.0007	N	0.04959	-0.14	0.35251	D	0.778677	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.002	T	0.29882	-0.9997	10	0.12430	T	0.62	.	8.8661	0.35286	0.0:0.1439:0.0:0.8561	rs2272722;rs52815824;rs60455215;rs2272722	71;171	B4E1G1;Q9BUN8	.;DERL1_HUMAN	V	171;71;71;71	ENSP00000259512:I171V;ENSP00000389965:I71V;ENSP00000430086:I71V;ENSP00000429199:I71V	ENSP00000259512:I171V	I	-	1	0	DERL1	124100722	0.997000	0.39634	0.766000	0.31476	0.958000	0.62258	2.937000	0.48979	0.953000	0.37825	-0.274000	0.10170	ATC	T|0.926;C|0.074	0.074	strong		0.388	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		C	124031541	T	C	124031541	3	2	23	1	0	0	0	0	1	0	0	0	4446	1493	52	2	252	2	DERL1	8	124031541	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4086057	124031541	22332481	2208	18664										
FBXO32	114907	hgsc.bcm.edu	37	chr8	124525483	124525483	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctgccagtggagaatCgtctccatccgatacaccca	9	14	1	1	rs3739287	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:124525483C>T	ENST00000517956.1	-	6	797	c.606G>A	c.(604-606)acG>acA	p.T202T	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	202					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTGGAGAATCGTCTCCATCC	0.557													C|||	1019	0.203474	0.1808	0.1772	5008	,	,		17984	0.4673		0.0895	False		,,,				2504	0.0982				p.T202T		Atlas-SNP	.											.	FBXO32	39	.	0			c.G606A						PASS	.	C	,,	784,3622	317.4+/-295.1	66,652,1485	129	106	114		,606,171	-9	0.3	8	dbSNP_107	114	802,7798	186.7+/-234.1	43,716,3541	no	intron,coding-synonymous,coding-synonymous	FBXO32	NM_001242463.1,NM_058229.3,NM_148177.2	,,	109,1368,5026	TT,TC,CC		9.3256,17.7939,12.1944	,,	,202/356,57/211	124525483	1586,11420	2203	4300	6503	SO:0001819	synonymous_variant	114907	exon6			GAGAATCGTCTCC	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"F-boxes /  "other""	16731	protein-coding gene	gene with protein product		606604	"F-box only protein 32"			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.606G>A	8.37:g.124525483C>T		Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	204	123	0.602941	NM_058229	A4KYM0	Silent	SNP	ENST00000517956.1	37	CCDS6345.1																																																																																			C|0.843;T|0.157	0.157	strong		0.557	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			T	124525483	C	T	124525483	2	4	23	1	0	0	0	0	0	0	0	1	5742	871	31	1		1	FBXO32	8	124525483	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	493942	124525483	21838539	2209	18665										
GSDMC	56169	hgsc.bcm.edu	37	chr8	130760774	130760774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagccagctgctgcagcaaCgagagagtcccatagagggc	13	12	1	2	rs4733559	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:130760774C>T	ENST00000276708.4	-	14	2381	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	500						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCTGCAGCAACGAGAGAGTCC	0.582													C|||	516	0.103035	0.0121	0.2147	5008	,	,		14276	0.0218		0.2157	False		,,,				2504	0.1145				p.S500S		Atlas-SNP	.											.	GSDMC	71	.	0			c.G1500A						PASS	.	C		202,4204	126.6+/-163.6	8,186,2009	129	123	125		1500	-9.5	0	8	dbSNP_111	125	1878,6722	334.5+/-321.0	212,1454,2634	no	coding-synonymous	GSDMC	NM_031415.2		220,1640,4643	TT,TC,CC		21.8372,4.5847,15.9926		500/509	130760774	2080,10926	2203	4300	6503	SO:0001819	synonymous_variant	56169	exon14			CAGCAACGAGAGA	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1500G>A	8.37:g.130760774C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	202	112	0.554455	NM_031415	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																			C|0.868;T|0.132	0.132	strong		0.582	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			T	130760774	C	T	130760774	2	4	23	1	0	0	0	0	0	0	0	1	6818	523	19	1		1	GSDMC	8	130760774	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6235291	130760774	15603248	2210	18666										
GSDMC	56169	hgsc.bcm.edu	37	chr8	130789767	130789767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcaataggtatttgacagGtgtcaggtctttgcttccaa	9	8	3	1	rs10090835	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:130789767G>A	ENST00000276708.4	-	2	948	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	23			P -> S (in dbSNP:rs10090835). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TATTTGACAGGTGTCAGGTCT	0.403													G|||	68	0.0135783	0.0053	0.0231	5008	,	,		22250	0.0		0.0398	False		,,,				2504	0.0051				p.P23S		Atlas-SNP	.											.	GSDMC	71	.	0			c.C67T						PASS	.	G	SER/PRO	38,4368	41.6+/-74.8	0,38,2165	188	174	179		67	4	0	8	dbSNP_119	179	428,8172	132.2+/-189.8	8,412,3880	yes	missense	GSDMC	NM_031415.2	74	8,450,6045	AA,AG,GG		4.9767,0.8625,3.583	probably-damaging	23/509	130789767	466,12540	2203	4300	6503	SO:0001583	missense	56169	exon2			TGACAGGTGTCAG	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.67C>T	8.37:g.130789767G>A	ENSP00000276708:p.Pro23Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	112	72	0.642857	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	41	0.018772893772893772	5	0.01016260162601626	6	0.016574585635359115	0	0.0	30	0.0395778364116095	G	15.75	2.925135	0.52759	0.008625	0.049767	ENSG00000147697	ENST00000276708	T	0.43294	0.95	4.01	4.01	0.46588	.	0.000000	0.53938	D	0.000046	T	0.23846	0.0577	M	0.80332	2.49	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.27400	-1.0075	10	0.66056	D	0.02	.	11.8128	0.52192	0.0:0.0:1.0:0.0	rs10090835;rs52809615;rs10090835	23	Q9BYG8	GSDMC_HUMAN	S	23	ENSP00000276708:P23S	ENSP00000276708:P23S	P	-	1	0	GSDMC	130858949	0.700000	0.27796	0.046000	0.18839	0.008000	0.06430	2.220000	0.42908	2.251000	0.74343	0.491000	0.48974	CCT	G|0.973;A|0.027	0.027	strong		0.403	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			A	130789767	G	A	130789767	3	1	23	1	0	0	0	0	1	0	0	0	6818	1261	44	2	1511	2	GSDMC	8	130789767	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28993	130789767	15574255	2211	18667										
EFR3A	23167	hgsc.bcm.edu	37	chr8	132982824	132982824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggatctgtaggcagtgtcAacttaaatacaagttccaaa	10	7	2	0	rs1051221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:132982824A>G	ENST00000254624.5	+	10	1318	c.1093A>G	c.(1093-1095)Aac>Gac	p.N365D	EFR3A_ENST00000334503.4_Missense_Mutation_p.N365D|EFR3A_ENST00000519656.1_Missense_Mutation_p.N329D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	365			N -> D (in dbSNP:rs1051221). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGGCAGTGTCAACTTAAATAC	0.393													A|||	2248	0.448882	0.5265	0.5	5008	,	,		17156	0.3125		0.5089	False		,,,				2504	0.3865				p.N365D		Atlas-SNP	.											.	EFR3A	96	.	0			c.A1093G						PASS	.	A	ASP/ASN	2335,2071	607.3+/-390.9	624,1087,492	113	112	112		1093	-1.1	0	8	dbSNP_86	112	4195,4405	568.1+/-389.0	1019,2157,1124	yes	missense	EFR3A	NM_015137.4	23	1643,3244,1616	GG,GA,AA		48.7791,47.0041,49.7924	benign	365/822	132982824	6530,6476	2203	4300	6503	SO:0001583	missense	23167	exon10			AGTGTCAACTTAA	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1093A>G	8.37:g.132982824A>G	ENSP00000254624:p.Asn365Asp	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	147	146	0.993197	NM_015137	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	1005	0.46016483516483514	266	0.540650406504065	188	0.5193370165745856	167	0.291958041958042	384	0.5065963060686016	A	7.915	0.737328	0.15574	0.529959	0.487791	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.32023	1.47;1.47;1.47	5.68	-1.11	0.09840	Armadillo-like helical (1);Armadillo-type fold (1);	1.359000	0.04269	N	0.341810	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.15930	0.015	B	0.22152	0.038	T	0.48536	-0.9027	9	0.46703	T	0.11	0.3366	5.6	0.17349	0.5414:0.0:0.3371:0.1215	rs1051221;rs56516663;rs1051221	365	Q14156	EFR3A_HUMAN	D	365;365;365;329	ENSP00000254624:N365D;ENSP00000334769:N365D;ENSP00000428086:N329D	ENSP00000254624:N365D	N	+	1	0	EFR3A	133052006	0.062000	0.20869	0.001000	0.08648	0.358000	0.29455	0.548000	0.23314	-0.399000	0.07668	0.477000	0.44152	AAC	A|0.517;C|0.002	.	strong		0.393	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		G	132982824	A	G	132982824	3	3	23	1	0	0	0	0	1	0	0	0	4958	130	5	2	1131	2	EFR3A	8	132982824	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2193057	132982824	13381198	2212	18668										
KCNQ3	3786	hgsc.bcm.edu	37	chr8	133184914	133184914	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtgttgctcctgcaccttGagggccagcccggaccccag	13	16	0	1	rs17575754	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:133184914G>C	ENST00000388996.4	-	7	1491	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L	KCNQ3_ENST00000519445.1_Silent_p.L357L|KCNQ3_ENST00000521134.1_Silent_p.L237L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	357					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCTGCACCTTGAGGGCCAGCC	0.602													G|||	121	0.0241613	0.003	0.0303	5008	,	,		19240	0.0		0.0835	False		,,,				2504	0.0123				p.L357L		Atlas-SNP	.											.	KCNQ3	164	.	0			c.C1071G						PASS	.	G	,	65,4341	62.3+/-99.4	0,65,2138	145	114	125		711,1071	0.6	1	8	dbSNP_123	125	607,7993	158.9+/-212.3	28,551,3721	no	coding-synonymous,coding-synonymous	KCNQ3	NM_001204824.1,NM_004519.3	,	28,616,5859	CC,CG,GG		7.0581,1.4753,5.1668	,	237/753,357/873	133184914	672,12334	2203	4300	6503	SO:0001819	synonymous_variant	3786	exon7			CACCTTGAGGGCC	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1071C>G	8.37:g.133184914G>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	91	44	0.483516	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																			G|0.954;C|0.046	0.046	strong		0.602	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		C	133184914	G	C	133184914	2	2	23	1	0	0	0	0	0	0	0	1	8084	1277	45	4		4	KCNQ3	8	133184914	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	202090	133184914	13179108	2213	18669										
KCNQ3	3786	hgsc.bcm.edu	37	chr8	133192521	133192521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcagggaggtggccagaacAttgccttggtttcccacagc	13	12	0	1	rs41272389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:133192521A>G	ENST00000388996.4	-	4	1080	c.660T>C	c.(658-660)aaT>aaC	p.N220N	KCNQ3_ENST00000519445.1_Silent_p.N220N|KCNQ3_ENST00000521134.1_Silent_p.N100N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	220					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGCCAGAACATTGCCTTGGT	0.592													A|||	121	0.0241613	0.003	0.0303	5008	,	,		20790	0.0		0.0835	False		,,,				2504	0.0123				p.N220N		Atlas-SNP	.											.	KCNQ3	164	.	0			c.T660C						PASS	.	A	,	65,4341	62.3+/-99.4	0,65,2138	107	93	98		300,660	3.2	1	8	dbSNP_127	98	607,7993	158.8+/-212.2	27,553,3720	no	coding-synonymous,coding-synonymous	KCNQ3	NM_001204824.1,NM_004519.3	,	27,618,5858	GG,GA,AA		7.0581,1.4753,5.1668	,	100/753,220/873	133192521	672,12334	2203	4300	6503	SO:0001819	synonymous_variant	3786	exon4			CAGAACATTGCCT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.660T>C	8.37:g.133192521A>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	76	17	0.223684	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																			A|0.951;G|0.049	0.049	strong		0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		G	133192521	A	G	133192521	2	3	23	1	0	0	0	0	0	0	0	1	8084	214	8	2		2	KCNQ3	8	133192521	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7607	133192521	13171501	2214	18670										
TG	7038	hgsc.bcm.edu	37	chr8	133899008	133899008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcagtttaccaccaaccCaaagagactccagcaaaacc	4	16	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:133899008C>A	ENST00000220616.4	+	9	1431	c.1391C>A	c.(1390-1392)cCa>cAa	p.P464Q	TG_ENST00000377869.1_Missense_Mutation_p.P464Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	464					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCACCAACCCAAAGAGACTC	0.463																																					p.P464Q		Atlas-SNP	.											.	TG	416	.	0			c.C1391A						PASS	.						57	63	61					8																	133899008		2203	4300	6503	SO:0001583	missense	7038	exon9			CCAACCCAAAGAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1391C>A	8.37:g.133899008C>A	ENSP00000220616:p.Pro464Gln	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	170	72	0.423529	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164144	0.78339	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;T	0.81499	-1.5;-1.43	5.8	5.8	0.92144	.	0.190696	0.37348	N	0.002135	D	0.88894	0.6561	M	0.72894	2.215	0.40203	D	0.977531	D	0.76494	0.999	D	0.66602	0.945	D	0.88843	0.3314	10	0.52906	T	0.07	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	464	P01266	THYG_HUMAN	Q	464	ENSP00000367100:P464Q;ENSP00000220616:P464Q	ENSP00000220616:P464Q	P	+	2	0	TG	133968190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.334000	0.65923	2.740000	0.93945	0.650000	0.86243	CCA	.	.	none		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133899008	C	A	133899008	3	1	23	1	0	0	0	0	1	0	0	0	15810	594	21	4	1425	4	TG	8	133899008	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	706487	133899008	12465014	2215	18671										
TG	7038	hgsc.bcm.edu	37	chr8	134108453	134108453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgcatccaatgcagctcCtggccgtgagtggccctttc	11	13	0	1	rs2069568	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:134108453C>T	ENST00000220616.4	+	43	7448	c.7408C>T	c.(7408-7410)Ctg>Ttg	p.L2470L	SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Silent_p.L603L|TG_ENST00000542445.1_Silent_p.L840L|TG_ENST00000377869.1_Silent_p.L2413L|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2470					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATGCAGCTCCTGGCCGTGAG	0.493													C|||	1726	0.344649	0.1452	0.3098	5008	,	,		21493	0.4038		0.4791	False		,,,				2504	0.4397				p.L2470L		Atlas-SNP	.											.	TG	416	.	0			c.C7408T						PASS	.	C	,,	905,3501	349.8+/-310.5	92,721,1390	169	159	163		,,7408	4.6	1	8	dbSNP_96	163	4022,4578	555.8+/-386.7	940,2142,1218	no	intron,intron,coding-synonymous	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,	1032,2863,2608	TT,TC,CC		46.7674,20.5402,37.8825	,,	,,2470/2769	134108453	4927,8079	2203	4300	6503	SO:0001819	synonymous_variant	7038	exon43			CAGCTCCTGGCCG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7408C>T	8.37:g.134108453C>T		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	225	131	0.582222	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	820	0.37545787545787546	93	0.18902439024390244	131	0.36187845303867405	224	0.3916083916083916	372	0.49076517150395776	C	8.661	0.900554	0.17686	0.205402	0.467674	ENSG00000042832	ENST00000519178	.	.	.	5.46	4.58	0.56647	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999972	.	.	.	.	.	.	T	0.52434	-0.8576	3	.	.	.	.	10.5409	0.45033	0.0:0.9081:0.0:0.0919	rs2069568;rs3739265;rs17704072;rs2069568	.	.	.	L	925	.	.	P	+	2	0	TG	134177635	0.995000	0.38212	1.000000	0.80357	0.853000	0.48598	1.553000	0.36255	2.552000	0.86080	0.655000	0.94253	CCT	C|0.629;T|0.371	0.371	strong		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134108453	C	T	134108453	2	4	23	1	0	0	0	0	0	0	0	1	15810	680	24	2		2	TG	8	134108453	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	209445	134108453	12255569	2216	18672										
TG	7038	hgsc.bcm.edu	37	chr8	134108546	134108546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcactgaagaggtctttaTgggtagaggtcgatctgctc	14	7	2	3	rs2069569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:134108546T>C	ENST00000220616.4	+	43	7541	c.7501T>C	c.(7501-7503)Tgg>Cgg	p.W2501R	SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Missense_Mutation_p.W634R|TG_ENST00000542445.1_Missense_Mutation_p.W871R|TG_ENST00000377869.1_Missense_Mutation_p.W2444R|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2501			W -> R (in dbSNP:rs2069569). {ECO:0000269|PubMed:10199792}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTCTTTATGGGTAGAGGT	0.587													C|||	2616	0.522364	0.8275	0.5086	5008	,	,		19240	0.2302		0.5328	False		,,,				2504	0.41				p.W2501R		Atlas-SNP	.											.	TG	416	.	0			c.T7501C						PASS	.	C	,,ARG/TRP	3462,944	362.9+/-316.3	1362,738,103	158	154	156		,,7501	2	0	8	dbSNP_96	156	4533,4067	560.0+/-387.5	1215,2103,982	yes	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,101	2577,2841,1085	CC,CT,TT		47.2907,21.4253,38.5284	,,benign	,,2501/2769	134108546	7995,5011	2203	4300	6503	SO:0001583	missense	7038	exon43			TCTTTATGGGTAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7501T>C	8.37:g.134108546T>C	ENSP00000220616:p.Trp2501Arg	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	192	118	0.614583	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	1131|1131	0.5178571428571429|0.5178571428571429	412|412	0.8373983739837398|0.8373983739837398	192|192	0.5303867403314917|0.5303867403314917	122|122	0.21328671328671328|0.21328671328671328	405|405	0.5343007915567283|0.5343007915567283	C|C	0.017|0.017	-1.494739|-1.494739	0.01009|0.01009	0.785747|0.785747	0.527093|0.527093	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2	5.26|5.26	2.0|2.0	0.26442|0.26442	.|Carboxylesterase, type B (1);	.|0.795765	.|0.10645	.|N	.|0.650544	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01242|0.01242	-0.935|-0.935	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.29882|0.29882	-0.9997|-0.9997	4|9	.|0.28530	.|T	.|0.3	.|.	5.2901|5.2901	0.15721|0.15721	0.293:0.5391:0.0:0.168|0.293:0.5391:0.0:0.168	rs56541861;rs59673778|rs56541861;rs59673778	.|634;871;2501	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	T|R	956|2444;1307;2501;871;634	.|ENSP00000367100:W2444R;ENSP00000220616:W2501R;ENSP00000441693:W871R;ENSP00000430430:W634R	.|ENSP00000220616:W2501R	M|W	+|+	2|1	0|0	TG|TG	134177728|134177728	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.018000|-0.018000	0.12568|0.12568	0.197000|0.197000	0.20387|0.20387	-0.716000|-0.716000	0.03619|0.03619	ATG|TGG	C|0.598;N|0.002	0.598	strong		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	134108546	T	C	134108546	3	2	23	1	0	0	0	0	1	0	0	0	15810	1464	51	2	7671	2	TG	8	134108546	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	93	134108546	12255476	2217	18673										
ST3GAL1	6482	hgsc.bcm.edu	37	chr8	134488007	134488007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaagagcgcgttctgggcGgtcagcagcggctgcatggt	16	11	2	1	rs2230542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:134488007G>A	ENST00000319914.5	-	4	1288	c.261C>T	c.(259-261)acC>acT	p.T87T	ST3GAL1_ENST00000399640.2_Silent_p.T87T|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Silent_p.T87T|ST3GAL1_ENST00000521180.1_Silent_p.T87T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	87					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.T87T(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGTTCTGGGCGGTCAGCAGCG	0.627													G|||	2206	0.440495	0.5893	0.4308	5008	,	,		18010	0.1657		0.501	False		,,,				2504	0.4673				p.T87T		Atlas-SNP	.											ST3GAL1,NS,carcinoma,0,1	ST3GAL1	39	1	1	Substitution - coding silent(1)	prostate(1)	c.C261T						PASS	.	G	,	2535,1871	627.4+/-394.9	754,1027,422	54	42	46		261,261	-10.9	0	8	dbSNP_98	46	4686,3914	600.9+/-394.3	1272,2142,886	no	coding-synonymous,coding-synonymous	ST3GAL1	NM_003033.3,NM_173344.2	,	2026,3169,1308	AA,AG,GG		45.5116,42.4648,44.4795	,	87/341,87/341	134488007	7221,5785	2203	4300	6503	SO:0001819	synonymous_variant	6482	exon5			CTGGGCGGTCAGC	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.261C>T	8.37:g.134488007G>A		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	173	173	1	NM_173344	O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	CCDS6373.1																																																																																			G|0.495;A|0.505	0.505	strong		0.627	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		A	134488007	G	A	134488007	2	1	23	1	0	0	0	0	0	0	0	1	15213	1103	39	1		1	ST3GAL1	8	134488007	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	379461	134488007	11876015	2218	18674										
ZFAT	57623	hgsc.bcm.edu	37	chr8	135602581	135602581	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttttcacaaacaggacaAgaataactccttttgtcctt	5	10	1	1	rs3739425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:135602581A>G	ENST00000377838.3	-	8	2667	c.2493T>C	c.(2491-2493)tcT>tcC	p.S831S	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Silent_p.S819S|ZFAT_ENST00000520727.1_Silent_p.S819S|ZFAT_ENST00000520214.1_Silent_p.S819S|ZFAT_ENST00000429442.2_Silent_p.S819S|ZFAT_ENST00000523399.1_Silent_p.S769S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	831					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAACAGGACAAGAATAACTCC	0.348																																					p.S831S		Atlas-SNP	.											.	ZFAT	265	.	0			c.T2493C						PASS	.	A	,,,,	694,3070		52,590,1240	90	91	91		2457,2457,2307,2457,2493	3.7	1	8	dbSNP_107	91	1444,6764		113,1218,2773	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	,,,,	165,1808,4013	GG,GA,AA		17.5926,18.4378,17.8583	,,,,	819/1232,819/1232,769/1182,819/1146,831/1244	135602581	2138,9834	1882	4104	5986	SO:0001819	synonymous_variant	57623	exon8			AGGACAAGAATAA	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2493T>C	8.37:g.135602581A>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	CCDS47924.1																																																																																			A|0.709;G|0.291	0.291	strong		0.348	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135602581	A	G	135602581	2	3	23	1	0	0	0	0	0	0	0	1	17629	59	3	3		3	ZFAT	8	135602581	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1114574	135602581	10761441	2219	18675										
FAM135B	51059	hgsc.bcm.edu	37	chr8	139263158	139263158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagacaggtggaaatagtcGaacatgaccgggacctggtg	14	8	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:139263158G>T	ENST00000395297.1	-	6	638	c.468C>A	c.(466-468)ttC>ttA	p.F156L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	156										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAAATAGTCGAACATGACCG	0.597										HNSCC(54;0.14)																											p.F156L		Atlas-SNP	.											.	FAM135B	423	.	0			c.C468A						PASS	.						128	140	136					8																	139263158		2096	4217	6313	SO:0001583	missense	51059	exon6			ATAGTCGAACATG	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.468C>A	8.37:g.139263158G>T	ENSP00000378710:p.Phe156Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	137	74	0.540146	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340691	0.81911	.	.	ENSG00000147724	ENST00000395297	T	0.72282	-0.64	5.47	-3.38	0.04883	.	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.84585	2.705	0.44652	D	0.99763	D	0.89917	1.0	D	0.91635	0.999	D	0.83531	0.0091	10	0.87932	D	0	-21.2002	14.2536	0.66035	0.5756:0.0:0.4243:0.0	.	156	Q49AJ0	F135B_HUMAN	L	156	ENSP00000378710:F156L	ENSP00000276737:F156L	F	-	3	2	FAM135B	139332340	0.004000	0.15560	0.973000	0.42090	0.969000	0.65631	-0.976000	0.03786	-0.602000	0.05775	-0.254000	0.11334	TTC	.	.	none		0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139263158	G	T	139263158	3	4	23	1	0	0	0	0	1	0	0	0	5449	1049	37	4	3812	4	FAM135B	8	139263158	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3660577	139263158	7100864	2220	18676										
TRAPPC9	83696	hgsc.bcm.edu	37	chr8	141461074	141461074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcgtagttggggtagaaAgccacgtcggtgcgcggctg	16	10	0	1	rs61739560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:141461074A>G	ENST00000438773.2	-	2	532	c.399T>C	c.(397-399)gcT>gcC	p.A133A	TRAPPC9_ENST00000389327.3_Silent_p.A133A|TRAPPC9_ENST00000389328.4_Silent_p.A231A	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	133					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGGGGTAGAAAGCCACGTCGG	0.582													G|||	321	0.0640974	0.1036	0.072	5008	,	,		19685	0.004		0.0785	False		,,,				2504	0.0521				p.A231A		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.T693C						PASS	.	G	,	494,3912	782.0+/-414.5	28,438,1737	69	60	63		399,693	4.5	1	8	dbSNP_129	63	727,7873	786.2+/-407.6	34,659,3607	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	62,1097,5344	GG,GA,AA		8.4535,11.212,9.388	,	133/1149,231/1247	141461074	1221,11785	2203	4300	6503	SO:0001819	synonymous_variant	83696	exon2			GTAGAAAGCCACG	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.399T>C	8.37:g.141461074A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	128	50	0.390625	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1																																																																																			A|0.913;G|0.087	0.087	strong		0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		G	141461074	A	G	141461074	2	3	23	1	0	0	0	0	0	0	0	1	16462	59	3	3		3	TRAPPC9	8	141461074	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2197916	141461074	4902948	2221	18677										
TRAPPC9	83696	hgsc.bcm.edu	37	chr8	141461116	141461116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacgatctccccctgcagCccgaagacaaagagccggga	10	16	1	2	rs34457678	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:141461116C>T	ENST00000438773.2	-	2	490	c.357G>A	c.(355-357)ggG>ggA	p.G119G	TRAPPC9_ENST00000389327.3_Silent_p.G119G|TRAPPC9_ENST00000389328.4_Silent_p.G217G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	119					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCCCCTGCAGCCCGAAGACAA	0.587													C|||	321	0.0640974	0.1036	0.072	5008	,	,		19353	0.004		0.0785	False		,,,				2504	0.0521				p.G217G		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.G651A						PASS	.	C	,	493,3913	224.6+/-240.7	28,437,1738	65	58	61		357,651	5.3	1	8	dbSNP_126	61	726,7874	176.9+/-226.6	34,658,3608	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	62,1095,5346	TT,TC,CC		8.4419,11.1893,9.3726	,	119/1149,217/1247	141461116	1219,11787	2203	4300	6503	SO:0001819	synonymous_variant	83696	exon2			CTGCAGCCCGAAG	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.357G>A	8.37:g.141461116C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	130	62	0.476923	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1																																																																																			C|0.912;T|0.088	0.088	strong		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		T	141461116	C	T	141461116	2	4	23	1	0	0	0	0	0	0	0	1	16462	726	26	2		2	TRAPPC9	8	141461116	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42	141461116	4902906	2222	18678										
GPR20	2843	hgsc.bcm.edu	37	chr8	142367350	142367350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggtggagcagacccggcCgcgacagtgcacacatgatg	14	13	0	2	rs201039593	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:142367350C>T	ENST00000377741.3	-	2	764	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	225					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGACCCGGCCGCGACAGTGC	0.652													C|||	4	0.000798722	0.0008	0.0	5008	,	,		18546	0.0		0.003	False		,,,				2504	0.0				p.R225Q		Atlas-SNP	.											.	GPR20	43	.	0			c.G674A						PASS	.	C	GLN/ARG	4,4162		0,4,2079	10	9	9		674	3.7	0.2	8	dbSNP_134	9	52,8166		1,50,4058	yes	missense	GPR20	NM_005293.2	43	1,54,6137	TT,TC,CC		0.6328,0.096,0.4522	probably-damaging	225/359	142367350	56,12328	2083	4109	6192	SO:0001583	missense	2843	exon2			CCCGGCCGCGACA	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.674G>A	8.37:g.142367350C>T	ENSP00000366970:p.Arg225Gln	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	20	20	1	NM_005293	Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459179	0.26248	9.6E-4	0.006328	ENSG00000204882	ENST00000377741	T	0.41400	1.0	4.77	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.643696	0.13570	U	0.378104	T	0.29684	0.0741	L	0.35793	1.09	0.09310	N	1	D	0.55800	0.973	P	0.48166	0.569	T	0.06588	-1.0818	10	0.32370	T	0.25	-20.3414	9.5849	0.39510	0.0:0.8396:0.0:0.1604	.	225	Q99678	GPR20_HUMAN	Q	225	ENSP00000366970:R225Q	ENSP00000366970:R225Q	R	-	2	0	GPR20	142436532	0.004000	0.15560	0.175000	0.22980	0.085000	0.17905	0.829000	0.27449	2.197000	0.70478	0.462000	0.41574	CGG	.	.	weak		0.652	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		T	142367350	C	T	142367350	3	4	23	1	0	0	0	0	1	0	0	0	6680	652	23	1	406	1	GPR20	8	142367350	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	906234	142367350	3996672	2223	18679										
JRK	8629	hgsc.bcm.edu	37	chr8	143746416	143746416	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgttcatgttgtagcgggcAtgggggccctgcagggggac	18	9	1	0	rs754957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:143746416A>G	ENST00000507178.2	-	0	1394							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgtagcgggcatgggggccct	0.612													G|||	2671	0.533347	0.7209	0.3213	5008	,	,		18399	0.5188		0.3917	False		,,,				2504	0.591				p.H354H		Atlas-SNP	.											.	.	.	.	0			c.T1062C						PASS	.	G	,	2462,1536		789,884,326	8	9	9		1062,1062	-0.7	0	8	dbSNP_86	9	3105,5209		657,1791,1709	yes	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	1446,2675,2035	GG,GA,AA		37.3466,38.4192,45.216	,	354/557,354/569	143746416	5567,6745	1999	4157	6156			8629	exon2			GCGGGCATGGGGG	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746416A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	144	62	0.430556	NM_003724	O75565	Silent	SNP	ENST00000507178.2	37																																																																																				A|0.478;G|0.522	0.522	strong		0.612	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		G	143746416	A	G	143746416	1	3	23	0	1	0	0	0	0	0	0	0	7964	214	8	2		2	JRK	8	143746416	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1379066	143746416	2617606	2224	18680										
JRK	8629	hgsc.bcm.edu	37	chr8	143746701	143746701	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctccttgtccacccaggcAttcccctgggccttataggc	8	16	1	0	rs3802232	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:143746701A>G	ENST00000507178.2	-	0	1109							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ccacccaggcattcccctggg	0.567													G|||	2639	0.526957	0.7179	0.3213	5008	,	,		18708	0.5188		0.3907	False		,,,				2504	0.5634				p.N259N		Atlas-SNP	.											.	.	.	.	0			c.T777C						PASS	.	G	,	1645,1183		507,631,276	14	17	16		777,777	-1.2	0	8	dbSNP_107	16	2041,3571		395,1251,1160	no	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	902,1882,1436	GG,GA,AA		36.3685,41.8317,43.673	,	259/557,259/569	143746701	3686,4754	1414	2806	4220			8629	exon2			CCAGGCATTCCCC	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746701A>G		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	107	39	0.364486	NM_003724	O75565	Silent	SNP	ENST00000507178.2	37																																																																																				A|0.479;G|0.521	0.521	strong		0.567	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		G	143746701	A	G	143746701	1	3	23	0	1	0	0	0	0	0	0	0	7964	214	8	2		2	JRK	8	143746701	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	285	143746701	2617321	2225	18681										
C8orf31	286122	hgsc.bcm.edu	37	chr8	144124609	144124609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacagggcccaggggctgcTggctgccaggaccaccgcat	15	15	0	0	rs11136300	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144124609T>C	ENST00000395172.1	+	3	468	c.116T>C	c.(115-117)cTg>cCg	p.L39P	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	39			L -> P (in dbSNP:rs11136300).							breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGGGCTGCTGGCTGCCAGG	0.647													c|||	3532	0.705272	0.7428	0.6873	5008	,	,		16665	0.7282		0.6392	False		,,,				2504	0.7117				p.L39P		Atlas-SNP	.											.	C8orf31	18	.	0			c.T116C						PASS	.	C	PRO/LEU	3182,1224	417.6+/-338.0	1161,860,182	34	38	37		116	-4.4	0	8	dbSNP_120	37	5494,3106	464.9+/-366.4	1740,2014,546	yes	missense	C8orf31	NM_173687.2	98	2901,2874,728	CC,CT,TT		36.1163,27.7803,33.2923	probably-damaging	39/133	144124609	8676,4330	2203	4300	6503	SO:0001583	missense	286122	exon3			GGCTGCTGGCTGC		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.116T>C	8.37:g.144124609T>C	ENSP00000378601:p.Leu39Pro	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	130	53	0.407692	NM_173687	Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	CCDS6395.1	1547	0.7083333333333334	368	0.7479674796747967	241	0.6657458563535912	453	0.791958041958042	485	0.6398416886543535	c	1.232	-0.623858	0.03636	0.722197	0.638837	ENSG00000177335	ENST00000395172	T	0.58358	0.34	2.38	-4.36	0.03645	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.34700	-0.9818	8	0.28530	T	0.3	.	1.0046	0.01484	0.1367:0.2771:0.2283:0.3579	rs11136300;rs61189848;rs11136300	39	Q8N9H6	CH031_HUMAN	P	39	ENSP00000378601:L39P	ENSP00000378601:L39P	L	+	2	0	C8orf31	144195984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.651000	0.00857	-1.757000	0.01316	-2.048000	0.00412	CTG	T|0.317;C|0.683	0.683	strong		0.647	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		C	144124609	T	C	144124609	3	2	23	1	0	0	0	0	1	0	0	0	2420	1580	55	3	122	3	C8orf31	8	144124609	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	377908	144124609	2239413	2226	18682										
LY6H	4062	hgsc.bcm.edu	37	chr8	144239859	144239859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtgtcgcttaacgaagtcAcaggaggaggcacacatctt	11	9	2	0	rs10109061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144239859A>G	ENST00000430474.2	-	4	396	c.231T>C	c.(229-231)tgT>tgC	p.C77C	LY6H_ENST00000342752.4_Silent_p.C98C|LY6H_ENST00000414417.2_Silent_p.C98C	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	77	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.C77C(1)		endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAACGAAGTCACAGGAGGAGG	0.537													G|||	2194	0.438099	0.7156	0.3343	5008	,	,		20246	0.2827		0.4036	False		,,,				2504	0.3323				p.C98C		Atlas-SNP	.											LY6H,NS,carcinoma,0,1	LY6H	12	1	1	Substitution - coding silent(1)	stomach(1)	c.T294C						scavenged	.	G	,,	2878,1528	484.6+/-360.1	947,984,272	107	106	107		294,294,231	-6	0.4	8	dbSNP_119	107	3756,4844	616.1+/-396.5	813,2130,1357	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	1760,3114,1629	GG,GA,AA		43.6744,34.68,48.9928	,,	98/162,98/162,77/141	144239859	6634,6372	2203	4300	6503	SO:0001819	synonymous_variant	4062	exon4			GAAGTCACAGGAG	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.231T>C	8.37:g.144239859A>G		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	117	67	0.57265	NM_001135655	B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	CCDS6396.1																																																																																			A|0.509;G|0.491	0.491	strong		0.537	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			G	144239859	A	G	144239859	2	3	23	1	0	0	0	0	0	0	0	1	9097	157	6	2		2	LY6H	8	144239859	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	115250	144239859	2124163	2227	18683										
LY6H	4062	hgsc.bcm.edu	37	chr8	144240257	144240257	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcggacactggcacacacCgtgtcggacggctggcactg	13	13	0	0	rs9694368	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144240257C>G	ENST00000430474.2	-	3	315	c.150G>C	c.(148-150)acG>acC	p.T50T	LY6H_ENST00000342752.4_Silent_p.T71T|LY6H_ENST00000414417.2_Silent_p.T71T	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	50	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T50T(1)		endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGCACACACCGTGTCGGACG	0.602													C|||	1610	0.321486	0.3101	0.2968	5008	,	,		16990	0.2768		0.3917	False		,,,				2504	0.3282				p.T71T		Atlas-SNP	.											LY6H,NS,carcinoma,0,1	LY6H	12	1	1	Substitution - coding silent(1)	stomach(1)	c.G213C						scavenged	.	C	,,	1375,3031	453.2+/-350.3	209,957,1037	154	124	134		213,213,150	-6.5	0.8	8	dbSNP_119	134	3680,4920	527.3+/-381.1	774,2132,1394	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	983,3089,2431	GG,GC,CC		42.7907,31.2074,38.8667	,,	71/162,71/162,50/141	144240257	5055,7951	2203	4300	6503	SO:0001819	synonymous_variant	4062	exon3			ACACACCGTGTCG	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.150G>C	8.37:g.144240257C>G		Somatic	190	2	0.0105263		WXS	Illumina HiSeq	Phase_I	214	123	0.574766	NM_001135655	B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	CCDS6396.1																																																																																			C|0.620;G|0.380	0.380	strong		0.602	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			G	144240257	C	G	144240257	2	3	23	1	0	0	0	0	0	0	0	1	9097	639	23	4		4	LY6H	8	144240257	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	398	144240257	2123765	2228	18684										
TOP1MT	116447	hgsc.bcm.edu	37	chr8	144406705	144406705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacttgatggagttctgaaCgctctcggtccaagctgcca	11	11	2	2	rs11544484	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144406705C>T	ENST00000329245.4	-	6	800	c.766G>A	c.(766-768)Gtt>Att	p.V256I	TOP1MT_ENST00000521193.1_Missense_Mutation_p.V158I|TOP1MT_ENST00000519148.1_Missense_Mutation_p.V158I|TOP1MT_ENST00000523676.1_Missense_Mutation_p.V158I	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	256			V -> I (in dbSNP:rs11544484). {ECO:0000269|PubMed:15489334}.		DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAGTTCTGAACGCTCTCGGTC	0.627													C|||	1381	0.275759	0.5015	0.1873	5008	,	,		18410	0.0754		0.3121	False		,,,				2504	0.2025				p.V256I		Atlas-SNP	.											.	TOP1MT	63	.	0			c.G766A						PASS	.	C	ILE/VAL	2179,2227	584.9+/-386.1	549,1081,573	133	112	119		766	-7.1	0	8	dbSNP_120	119	2426,6174	402.5+/-347.5	368,1690,2242	yes	missense	TOP1MT	NM_052963.1	29	917,2771,2815	TT,TC,CC		28.2093,49.4553,35.4067	benign	256/602	144406705	4605,8401	2203	4300	6503	SO:0001583	missense	116447	exon6			TCTGAACGCTCTC	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.766G>A	8.37:g.144406705C>T	ENSP00000328835:p.Val256Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	176	62	0.352273	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	593	0.2715201465201465	252	0.5121951219512195	73	0.20165745856353592	39	0.06818181818181818	229	0.3021108179419525	C	0.012	-1.660811	0.00772	0.494553	0.282093	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	3.55	-7.1	0.01547	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.581986	0.13931	N	0.352874	T	0.00012	0.0000	N	0.01656	-0.775	0.46678	P	8.439999999999559E-4	B;B	0.20164	0.042;0.01	B;B	0.19666	0.026;0.02	T	0.16041	-1.0416	9	0.02654	T	1	.	9.912	0.41411	0.0:0.4416:0.0:0.5584	rs11544484;rs61685599;rs11544484	51;256	E7ESI1;Q969P6	.;TOP1M_HUMAN	I	256;158;158;158;158;158	ENSP00000328835:V256I;ENSP00000428369:V158I;ENSP00000429169:V158I;ENSP00000429181:V158I;ENSP00000427998:V158I;ENSP00000429177:V158I	ENSP00000328835:V256I	V	-	1	0	TOP1MT	144478080	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	1.413000	0.34725	-1.752000	0.01325	-1.077000	0.02231	GTT	C|0.689;T|0.311	0.311	strong		0.627	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		T	144406705	C	T	144406705	3	4	23	1	0	0	0	0	1	0	0	0	16361	536	19	1	1075	1	TOP1MT	8	144406705	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	166448	144406705	1957317	2229	18685										
RHPN1	114822	hgsc.bcm.edu	37	chr8	144462841	144462841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccgcgtcctgcgcgaggtGgacctgcttcgggctgtgat	16	12	0	1	rs117282246	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144462841G>A	ENST00000289013.6	+	11	1400	c.1299G>A	c.(1297-1299)gtG>gtA	p.V433V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	458	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGCGCGAGGTGGACCTGCTTC	0.687													g|||	20	0.00399361	0.0	0.0	5008	,	,		17518	0.0		0.0129	False		,,,				2504	0.0072				p.V433V		Atlas-SNP	.											.	RHPN1	76	.	0			c.G1299A						PASS	.	G		7,4217		0,7,2105	19	23	21		1299	2.5	0.9	8	dbSNP_132	21	71,8371		0,71,4150	no	coding-synonymous	RHPN1	NM_052924.2		0,78,6255	AA,AG,GG		0.841,0.1657,0.6158		433/671	144462841	78,12588	2112	4221	6333	SO:0001819	synonymous_variant	114822	exon11			CGAGGTGGACCTG	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1299G>A	8.37:g.144462841G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	210	95	0.452381	NM_052924	Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	CCDS47927.1																																																																																			G|0.994;A|0.006	0.006	strong		0.687	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			A	144462841	G	A	144462841	2	1	23	1	0	0	0	0	0	0	0	1	13350	1335	47	2		2	RHPN1	8	144462841	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	56136	144462841	1901181	2230	18686										
ZC3H3	23144	hgsc.bcm.edu	37	chr8	144522457	144522457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccccctgggcagtggggagGtgcagccacggcagccgcag	17	15	0	0	rs36083358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144522457G>A	ENST00000262577.5	-	11	2600	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	857					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGTGGGGAGGTGCAGCCACG	0.687													G|||	54	0.0107827	0.0008	0.013	5008	,	,		14818	0.0		0.0417	False		,,,				2504	0.002				p.P857S		Atlas-SNP	.											.	ZC3H3	75	.	0			c.C2569T						PASS	.	G	SER/PRO	44,4338		0,44,2147	14	17	16		2569	-2.6	0	8	dbSNP_126	16	430,8154		9,412,3871	yes	missense	ZC3H3	NM_015117.2	74	9,456,6018	AA,AG,GG		5.0093,1.0041,3.6557	probably-damaging	857/949	144522457	474,12492	2191	4292	6483	SO:0001583	missense	23144	exon11			GGGGAGGTGCAGC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2569C>T	8.37:g.144522457G>A	ENSP00000262577:p.Pro857Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	113	38	0.336283	NM_015117	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	38	0.0173992673992674	0	0.0	6	0.016574585635359115	0	0.0	32	0.04221635883905013	G	11.73	1.724598	0.30593	0.010041	0.050093	ENSG00000014164	ENST00000262577	T	0.46063	0.88	3.56	-2.63	0.06133	.	1.990810	0.02478	N	0.088190	T	0.03695	0.0105	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.03829	-1.1000	10	0.11794	T	0.64	.	1.6498	0.02769	0.1968:0.2918:0.3632:0.1482	rs36083358	857	Q8IXZ2	ZC3H3_HUMAN	S	857	ENSP00000262577:P857S	ENSP00000262577:P857S	P	-	1	0	ZC3H3	144593600	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.560000	0.23500	-0.308000	0.08792	0.467000	0.42956	CCT	G|0.973;A|0.027	0.027	strong		0.687	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144522457	G	A	144522457	3	1	23	1	0	0	0	0	1	0	0	0	17566	1261	44	2	285	2	ZC3H3	8	144522457	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	59616	144522457	1841565	2231	18687										
ZC3H3	23144	hgsc.bcm.edu	37	chr8	144620855	144620855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcggaggatgggaagctcgCcttgacggcaatcacactct	13	11	2	1	rs4873802	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144620855C>A	ENST00000262577.5	-	2	713	c.682G>T	c.(682-684)Gcg>Tcg	p.A228S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	228			A -> S (in dbSNP:rs4873802).		mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGAAGCTCGCCTTGACGGCA	0.667													C|||	748	0.149361	0.0348	0.2536	5008	,	,		16516	0.0804		0.1978	False		,,,				2504	0.2515				p.A228S		Atlas-SNP	.											.	ZC3H3	75	.	0			c.G682T						PASS	.	C	SER/ALA	281,4113	142.7+/-177.9	19,243,1935	30	26	27		682	0.5	0	8	dbSNP_111	27	1582,7010	275.3+/-291.7	146,1290,2860	yes	missense	ZC3H3	NM_015117.2	99	165,1533,4795	AA,AC,CC		18.4125,6.3951,14.3462	benign	228/949	144620855	1863,11123	2197	4296	6493	SO:0001583	missense	23144	exon2			AGCTCGCCTTGAC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.682G>T	8.37:g.144620855C>A	ENSP00000262577:p.Ala228Ser	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	49	20	0.408163	NM_015117	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	309	0.14148351648351648	14	0.028455284552845527	83	0.2292817679558011	53	0.09265734265734266	159	0.20976253298153033	C	3.323	-0.138368	0.06669	0.063951	0.184125	ENSG00000014164	ENST00000262577	T	0.03607	3.87	5.09	0.477	0.16784	.	1.374230	0.04843	N	0.440856	T	0.00012	0.0000	L	0.48362	1.52	0.80722	P	0.0	B	0.22346	0.068	B	0.13407	0.009	T	0.46911	-0.9157	9	0.07990	T	0.79	-0.0025	3.8282	0.08863	0.1438:0.4559:0.2563:0.1441	rs4873802;rs59350978;rs4873802	228	Q8IXZ2	ZC3H3_HUMAN	S	228	ENSP00000262577:A228S	ENSP00000262577:A228S	A	-	1	0	ZC3H3	144691998	0.045000	0.20229	0.011000	0.14972	0.004000	0.04260	-0.131000	0.10482	0.147000	0.19030	-0.150000	0.13652	GCG	C|0.858;A|0.142	0.142	strong		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144620855	C	A	144620855	3	1	23	1	0	0	0	0	1	0	0	0	17566	739	26	4	2208	4	ZC3H3	8	144620855	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	98398	144620855	1743167	2232	18688										
ZC3H3	23144	hgsc.bcm.edu	37	chr8	144621084	144621084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttggtcactccagggggtTtcctcaaattcttccaaaga	8	11	3	1	rs3750207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144621084T>G	ENST00000262577.5	-	2	484	c.453A>C	c.(451-453)gaA>gaC	p.E151D		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	151			E -> D (in dbSNP:rs3750207). {ECO:0000269|PubMed:8590280}.		mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCCAGGGGGTTTCCTCAAATT	0.612													G|||	2086	0.416534	0.5779	0.4654	5008	,	,		15931	0.2133		0.3479	False		,,,				2504	0.4438				p.E151D		Atlas-SNP	.											.	ZC3H3	75	.	0			c.A453C						PASS	.	G	ASP/GLU	2318,2086		622,1074,506	27	31	30		453	-2.4	0	8	dbSNP_107	30	2719,5873		441,1837,2018	yes	missense	ZC3H3	NM_015117.2	45	1063,2911,2524	GG,GT,TT		31.6457,47.366,38.7581	benign	151/949	144621084	5037,7959	2202	4296	6498	SO:0001583	missense	23144	exon2			GGGGGTTTCCTCA	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.453A>C	8.37:g.144621084T>G	ENSP00000262577:p.Glu151Asp	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	108	28	0.259259	NM_015117	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	852	0.3901098901098901	277	0.5630081300813008	158	0.43646408839779005	136	0.23776223776223776	281	0.370712401055409	G	0.004	-2.250215	0.00268	0.52634	0.316457	ENSG00000014164	ENST00000262577	T	0.02525	4.26	4.88	-2.42	0.06542	.	0.554792	0.16290	N	0.220921	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25433	-1.0132	9	0.02654	T	1	-4.8995	2.0717	0.03615	0.4945:0.1384:0.226:0.141	rs3750207;rs59595990;rs3750207	151	Q8IXZ2	ZC3H3_HUMAN	D	151	ENSP00000262577:E151D	ENSP00000262577:E151D	E	-	3	2	ZC3H3	144692227	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.351000	0.01092	-0.336000	0.08438	-0.737000	0.03537	GAA	T|0.601;G|0.399	0.399	strong		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		G	144621084	T	G	144621084	3	3	23	1	0	0	0	0	1	0	0	0	17566	1838	64	5	2437	5	ZC3H3	8	144621084	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	229	144621084	1742938	2233	18689										
GSDMD	79792	hgsc.bcm.edu	37	chr8	144642854	144642854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgtggtgactgaggtgctGcagacacagaaggaggtgga	17	6	0	4	rs11551202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144642854G>A	ENST00000526406.1	+	7	1375	c.492G>A	c.(490-492)ctG>ctA	p.L164L	GSDMD_ENST00000262580.4_Silent_p.L164L|GSDMD_ENST00000533063.1_Silent_p.L212L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	164					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CTGAGGTGCTGCAGACACAGA	0.652													G|||	833	0.166334	0.1263	0.2594	5008	,	,		11973	0.0794		0.1918	False		,,,				2504	0.2178				p.L164L		Atlas-SNP	.											GSDMD,NS,carcinoma,0,1	GSDMD	28	1	0			c.G492A						PASS	.	G	,	628,3730		43,542,1594	34	27	29		492,492	1.6	1	8	dbSNP_120	29	1549,7025		140,1269,2878	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	183,1811,4472	AA,AG,GG		18.0662,14.4103,16.8342	,	164/485,164/485	144642854	2177,10755	2179	4287	6466	SO:0001819	synonymous_variant	79792	exon7			GGTGCTGCAGACA	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.492G>A	8.37:g.144642854G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	251	77	0.306773	NM_001166237	D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	CCDS34956.1																																																																																			G|0.836;A|0.164	0.164	strong		0.652	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		A	144642854	G	A	144642854	2	1	23	1	0	0	0	0	0	0	0	1	6819	1306	46	2		2	GSDMD	8	144642854	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21770	144642854	1721168	2234	18690										
PYCRL	65263	hgsc.bcm.edu	37	chr8	144689146	144689146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccagggtgctcagagacaCcccagcagccacggacacca	10	17	1	1	rs2242089	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144689146C>T	ENST00000220966.6	-	3	378	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	PYCRL_ENST00000377579.3_De_novo_Start_InFrame|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	105					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CTCAGAGACACCCCAGCAGCC	0.627													C|||	1231	0.245807	0.1808	0.2233	5008	,	,		19504	0.371		0.2008	False		,,,				2504	0.2669				p.V117M		Atlas-SNP	.											PYCRL,NS,carcinoma,0,1	PYCRL	14	1	0			c.G349A	GRCh37	CM067455	PYCRL	M	rs2242089	PASS	.	C	MET/VAL	821,3585	323.7+/-298.2	76,669,1458	76	72	73		349	2	0.3	8	dbSNP_98	73	1565,7035	293.2+/-301.3	156,1253,2891	yes	missense	PYCRL	NM_023078.3	21	232,1922,4349	TT,TC,CC		18.1977,18.6337,18.3454	probably-damaging	117/287	144689146	2386,10620	2203	4300	6503	SO:0001583	missense	65263	exon3			GAGACACCCCAGC	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.349G>A	8.37:g.144689146C>T	ENSP00000220966:p.Val117Met	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	253	72	0.284585	NM_023078	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	CCDS6407.2	526	0.24084249084249085	89	0.18089430894308944	62	0.1712707182320442	222	0.3881118881118881	153	0.20184696569920843	C	15.51	2.855574	0.51376	0.186337	0.181977	ENSG00000104524	ENST00000220966;ENST00000433751	T;T	0.65732	-0.17;-0.17	4.82	2.0	0.26442	NAD(P)-binding domain (1);	0.273444	0.36200	N	0.002732	T	0.00012	0.0000	M	0.88906	2.99	0.09310	P	0.9999999999965832	D;D	0.67145	0.996;0.995	P;P	0.61201	0.83;0.885	T	0.12967	-1.0527	9	0.72032	D	0.01	-23.9758	7.7118	0.28682	0.0:0.7091:0.0:0.2909	rs2242089;rs11549788;rs60863986;rs2242089	117;105	D3DWK4;Q53H96	.;P5CR3_HUMAN	M	117;112	ENSP00000220966:V117M;ENSP00000404493:V112M	ENSP00000220966:V117M	V	-	1	0	PYCRL	144760289	0.313000	0.24554	0.347000	0.25668	0.682000	0.39822	0.873000	0.28052	0.101000	0.17610	0.448000	0.29417	GTG	C|0.785;T|0.215	0.215	strong		0.627	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		T	144689146	C	T	144689146	3	4	23	1	0	0	0	0	1	0	0	0	12857	507	18	2	527	2	PYCRL	8	144689146	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	46292	144689146	1674876	2235	18691										
SCRIB	23513	hgsc.bcm.edu	37	chr8	144885669	144885669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtcaggcccagcaggctctGctggttcacctccaacagcc	10	17	3	0	rs138257744	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144885669G>C	ENST00000320476.3	-	24	3493	c.3487C>G	c.(3487-3489)Cag>Gag	p.Q1163E	SCRIB_ENST00000356994.2_Missense_Mutation_p.Q1163E|SCRIB_ENST00000377533.3_Missense_Mutation_p.Q1082E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1163	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCAGGCTCTGCTGGTTCACC	0.692													G|||	17	0.00339457	0.0	0.0	5008	,	,		11201	0.0169		0.0	False		,,,				2504	0.0				p.Q1163E	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											.	SCRIB	192	.	0			c.C3487G						PASS	.	G	GLU/GLN,GLU/GLN	2,4362		0,2,2180	20	20	20		3487,3487	4.8	1	8	dbSNP_134	20	0,8554		0,0,4277	yes	missense,missense	SCRIB	NM_015356.3,NM_182706.3	29,29	0,2,6457	CC,CG,GG		0.0,0.0458,0.0155	possibly-damaging,possibly-damaging	1163/1631,1163/1656	144885669	2,12916	2182	4277	6459	SO:0001583	missense	23513	exon24			GGCTCTGCTGGTT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3487C>G	8.37:g.144885669G>C	ENSP00000322938:p.Gln1163Glu	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	15	9	0.6	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	7|7	0.003205128205128205|0.003205128205128205	0|0	0.0|0.0	0|0	0.0|0.0	7|7	0.012237762237762238|0.012237762237762238	0|0	0.0|0.0	G|G	17.95|17.95	3.514052|3.514052	0.64522|0.64522	4.58E-4|4.58E-4	0.0|0.0	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.|T;T;T	.|0.27256	.|1.68;1.68;1.68	4.82|4.82	4.82|4.82	0.62117|0.62117	.|PDZ/DHR/GLGF (4);	.|.	.|.	.|.	.|.	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.10618|0.10618	0.005|0.005	0.24765|0.24765	N|N	0.99291|0.99291	.|P;P	.|0.48089	.|0.855;0.905	.|P;P	.|0.50860	.|0.634;0.652	T|T	0.13629|0.13629	-1.0502|-1.0502	5|9	.|0.30854	.|T	.|0.27	.|.	15.1122|15.1122	0.72368|0.72368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1163;1163	.|Q14160;Q14160-3	.|SCRIB_HUMAN;.	G|E	158|1163;1163;1082;532	.|ENSP00000349486:Q1163E;ENSP00000322938:Q1163E;ENSP00000366756:Q1082E	.|ENSP00000322938:Q1163E	A|Q	-|-	2|1	0|0	SCRIB|SCRIB	144957657|144957657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	5.594000|5.594000	0.67557|0.67557	2.222000|2.222000	0.72286|0.72286	0.456000|0.456000	0.33151|0.33151	GCA|CAG	G|0.999;C|0.001	0.001	strong		0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144885669	G	C	144885669	3	2	23	1	0	0	0	0	1	0	0	0	13937	1328	46	4	1536	4	SCRIB	8	144885669	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	196523	144885669	1478353	2236	18692										
PLEC	5339	hgsc.bcm.edu	37	chr8	144991925	144991925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctggaagagggagatgaGcttcccagagtaggggtcct	17	8	0	4	rs189061273	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144991925G>A	ENST00000322810.4	-	32	12644	c.12475C>T	c.(12475-12477)Ctc>Ttc	p.L4159F	PLEC_ENST00000398774.2_Missense_Mutation_p.L3990F|PLEC_ENST00000527096.1_Missense_Mutation_p.L4045F|PLEC_ENST00000357649.2_Missense_Mutation_p.L4026F|PLEC_ENST00000345136.3_Missense_Mutation_p.L4022F|PLEC_ENST00000356346.3_Missense_Mutation_p.L4008F|PLEC_ENST00000436759.2_Missense_Mutation_p.L4049F|PLEC_ENST00000354958.2_Missense_Mutation_p.L4000F|PLEC_ENST00000354589.3_Missense_Mutation_p.L4022F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4159	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGAGATGAGCTTCCCAGAG	0.637													G|||	14	0.00279553	0.0	0.0	5008	,	,		18649	0.0139		0.0	False		,,,				2504	0.0				p.L4159F		Atlas-SNP	.											PLEC_ENST00000436759,bladder,carcinoma,+2,3	PLEC	1144	3	0			c.C12475T						PASS	.						49	57	54					8																	144991925		2110	4197	6307	SO:0001583	missense	5339	exon32			AGATGAGCTTCCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12475C>T	8.37:g.144991925G>A	ENSP00000323856:p.Leu4159Phe	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	63	0.617647	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	8.561	0.877675	0.17395	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.98	4.98	0.66077	.	0.420113	0.19781	U	0.106211	T	0.37758	0.1015	N	0.14661	0.345	0.34450	D	0.700616	P;P;P;P;P;P;P;P	0.49090	0.919;0.919;0.919;0.868;0.919;0.919;0.919;0.919	P;P;P;B;P;P;P;P	0.45506	0.483;0.483;0.483;0.289;0.483;0.483;0.483;0.483	T	0.63637	-0.6592	10	0.54805	T	0.06	.	13.0686	0.59048	0.0:0.0:0.8393:0.1607	.	4049;4008;4000;4159;3990;4022;4026;4022	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	F	4022;4026;4022;3990;4159;4000;4008;4049;4045	ENSP00000344848:L4022F;ENSP00000350277:L4026F;ENSP00000346602:L4022F;ENSP00000381756:L3990F;ENSP00000323856:L4159F;ENSP00000347044:L4000F;ENSP00000348702:L4008F;ENSP00000388180:L4049F;ENSP00000434583:L4045F	ENSP00000323856:L4159F	L	-	1	0	PLEC	145063913	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.222000	0.32515	2.597000	0.87782	0.549000	0.68633	CTC	G|0.995;A|0.005	0.005	strong		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991925	G	A	144991925	3	1	23	1	0	0	0	0	1	0	0	0	12052	971	34	2	1583	2	PLEC	8	144991925	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	106256	144991925	1372097	2237	18693										
PLEC	5339	hgsc.bcm.edu	37	chr8	144992900	144992900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctgcctggaaccgggcaGgtagacaccagccacggagc	14	13	1	1	rs17062686	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144992900G>A	ENST00000322810.4	-	32	11669	c.11500C>T	c.(11500-11502)Ctg>Ttg	p.L3834L	PLEC_ENST00000398774.2_Silent_p.L3665L|PLEC_ENST00000527096.1_Silent_p.L3720L|PLEC_ENST00000357649.2_Silent_p.L3701L|PLEC_ENST00000345136.3_Silent_p.L3697L|PLEC_ENST00000356346.3_Silent_p.L3683L|PLEC_ENST00000436759.2_Silent_p.L3724L|PLEC_ENST00000354958.2_Silent_p.L3675L|PLEC_ENST00000354589.3_Silent_p.L3697L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3834	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAACCGGGCAGGTAGACACCA	0.667													G|||	85	0.0169728	0.0023	0.0115	5008	,	,		16451	0.0		0.0517	False		,,,				2504	0.0225				p.L3834L		Atlas-SNP	.											.	PLEC	1144	.	0			c.C11500T						PASS	.	G	,,,,,,,	32,3900		1,30,1935	20	26	24		11170,11047,11023,11500,10993,11089,11101,11089	-0.8	0	8	dbSNP_123	24	408,7866		8,392,3737	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	9,422,5672	AA,AG,GG		4.9311,0.8138,3.6048	,,,,,,,	3724/4575,3683/4534,3675/4526,3834/4685,3665/4516,3697/4548,3701/4552,3697/4548	144992900	440,11766	1966	4137	6103	SO:0001819	synonymous_variant	5339	exon32			CGGGCAGGTAGAC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11500C>T	8.37:g.144992900G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	136	52	0.382353	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.970;A|0.030	0.030	strong		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144992900	G	A	144992900	2	1	23	1	0	0	0	0	0	0	0	1	12052	991	35	2		2	PLEC	8	144992900	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	975	144992900	1371122	2238	18694										
PLEC	5339	hgsc.bcm.edu	37	chr8	144993324	144993324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctcagtgtacacctgCgtggtctccaccacctcagc	7	18	3	0	rs6984820	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144993324C>T	ENST00000322810.4	-	32	11245	c.11076G>A	c.(11074-11076)acG>acA	p.T3692T	PLEC_ENST00000398774.2_Silent_p.T3523T|PLEC_ENST00000527096.1_Silent_p.T3578T|PLEC_ENST00000357649.2_Silent_p.T3559T|PLEC_ENST00000345136.3_Silent_p.T3555T|PLEC_ENST00000356346.3_Silent_p.T3541T|PLEC_ENST00000436759.2_Silent_p.T3582T|PLEC_ENST00000354958.2_Silent_p.T3533T|PLEC_ENST00000354589.3_Silent_p.T3555T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3692	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTACACCTGCGTGGTCTCCA	0.642													C|||	1172	0.234026	0.0348	0.2983	5008	,	,		17797	0.1349		0.4235	False		,,,				2504	0.365				p.T3692T		Atlas-SNP	.											.	PLEC	1144	.	0			c.G11076A						PASS	.	C	,,,,,,,	378,3836		25,328,1754	105	122	117		10746,10623,10599,11076,10569,10665,10677,10665	-4.8	0.6	8	dbSNP_116	117	3444,4994		721,2002,1496	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	746,2330,3250	TT,TC,CC		40.8154,8.9701,30.2087	,,,,,,,	3582/4575,3541/4534,3533/4526,3692/4685,3523/4516,3555/4548,3559/4552,3555/4548	144993324	3822,8830	2107	4219	6326	SO:0001819	synonymous_variant	5339	exon32			CACCTGCGTGGTC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11076G>A	8.37:g.144993324C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	161	90	0.559006	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.730;T|0.270	0.270	strong		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144993324	C	T	144993324	2	4	23	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144993324	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	424	144993324	1370698	2239	18695										
PLEC	5339	hgsc.bcm.edu	37	chr8	144997656	144997656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctccgcctgtgcccgccgCgccgcctcttgctcggcctc	11	21	1	0	rs7016416	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:144997656C>T	ENST00000322810.4	-	31	7021	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	PLEC_ENST00000398774.2_Silent_p.A2115A|PLEC_ENST00000527096.1_Silent_p.A2170A|PLEC_ENST00000357649.2_Silent_p.A2151A|PLEC_ENST00000345136.3_Silent_p.A2147A|PLEC_ENST00000356346.3_Silent_p.A2133A|PLEC_ENST00000436759.2_Silent_p.A2174A|PLEC_ENST00000354958.2_Silent_p.A2125A|PLEC_ENST00000354589.3_Silent_p.A2147A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2284	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCCCGCCGCGCCGCCTCTT	0.692													C|||	1153	0.230232	0.028	0.2954	5008	,	,		12031	0.1429		0.4245	False		,,,				2504	0.3476				p.A2284A		Atlas-SNP	.											PLEC_ENST00000436759,NS,carcinoma,0,3	PLEC	1144	3	0			c.G6852A						PASS	.	C	,,,,,,,	329,3527		26,277,1625	8	11	10		6522,6399,6375,6852,6345,6441,6453,6441	-7.4	0	8	dbSNP_116	10	3097,4915		616,1865,1525	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	642,2142,3150	TT,TC,CC		38.6545,8.5322,28.8675	,,,,,,,	2174/4575,2133/4534,2125/4526,2284/4685,2115/4516,2147/4548,2151/4552,2147/4548	144997656	3426,8442	1928	4006	5934	SO:0001819	synonymous_variant	5339	exon31			CCGCCGCGCCGCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6852G>A	8.37:g.144997656C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	22	18	0.818182	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.718;T|0.282	0.282	strong		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144997656	C	T	144997656	2	4	23	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144997656	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4332	144997656	1366366	2240	18696										
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		Atlas-SNP	.											PLEC_ENST00000436759,NS,carcinoma,0,3	PLEC	1144	3	0			c.G4157A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.706;T|0.294	0.294	strong		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	23	1	0	0	0	0	1	0	0	0	12052	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3932	145001588	1362434	2241	18697										
PLEC	5339	hgsc.bcm.edu	37	chr8	145006143	145006143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccttcaggtgtgcctcgaTacagcagcacagctgtagca	10	13	1	0	rs189137260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145006143T>C	ENST00000322810.4	-	18	2720	c.2551A>G	c.(2551-2553)Atc>Gtc	p.I851V	PLEC_ENST00000398774.2_Missense_Mutation_p.I682V|PLEC_ENST00000527096.1_Missense_Mutation_p.I737V|PLEC_ENST00000357649.2_Missense_Mutation_p.I718V|PLEC_ENST00000345136.3_Missense_Mutation_p.I714V|PLEC_ENST00000356346.3_Missense_Mutation_p.I700V|PLEC_ENST00000436759.2_Missense_Mutation_p.I741V|PLEC_ENST00000354958.2_Missense_Mutation_p.I692V|PLEC_ENST00000354589.3_Missense_Mutation_p.I714V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	851	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTGCCTCGATACAGCAGCAC	0.682													T|||	7	0.00139776	0.0	0.0	5008	,	,		12293	0.0069		0.0	False		,,,				2504	0.0				p.I851V		Atlas-SNP	.											.	PLEC	1144	.	0			c.A2551G						PASS	.						18	23	21					8																	145006143		2101	4235	6336	SO:0001583	missense	5339	exon18			CCTCGATACAGCA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2551A>G	8.37:g.145006143T>C	ENSP00000323856:p.Ile851Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	154	83	0.538961	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	11	0.005036630036630037	1	0.0020325203252032522	1	0.0027624309392265192	7	0.012237762237762238	2	0.002638522427440633	T	10.35	1.327031	0.24080	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.2	0.331	0.15933	.	0.000000	0.64402	U	0.000016	T	0.69949	0.3168	N	0.21545	0.675	0.34771	D	0.73369	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.62872	-0.6762	10	0.23302	T	0.38	.	5.975	0.19373	0.0:0.1853:0.1515:0.6631	.	741;700;692;851;682;714;718;714	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	714;718;714;682;851;692;700;741;737	ENSP00000344848:I714V;ENSP00000350277:I718V;ENSP00000346602:I714V;ENSP00000381756:I682V;ENSP00000323856:I851V;ENSP00000347044:I692V;ENSP00000348702:I700V;ENSP00000388180:I741V;ENSP00000434583:I737V	ENSP00000323856:I851V	I	-	1	0	PLEC	145078131	0.157000	0.22836	0.190000	0.23270	0.782000	0.44232	0.054000	0.14205	0.208000	0.20626	0.372000	0.22366	ATC	T|0.995;C|0.005	0.005	strong		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		C	145006143	T	C	145006143	3	2	23	1	0	0	0	0	1	0	0	0	12052	1406	49	2	11563	2	PLEC	8	145006143	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4555	145006143	1357879	2242	18698										
PLEC	5339	hgsc.bcm.edu	37	chr8	145008560	145008560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccccactccttctccacAtccagcgggtggtagccagg	10	16	1	0	rs11783799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145008560A>G	ENST00000322810.4	-	11	1675	c.1506T>C	c.(1504-1506)gaT>gaC	p.D502D	PLEC_ENST00000398774.2_Silent_p.D333D|PLEC_ENST00000527096.1_Silent_p.D388D|PLEC_ENST00000357649.2_Silent_p.D369D|PLEC_ENST00000345136.3_Silent_p.D365D|PLEC_ENST00000356346.3_Silent_p.D351D|PLEC_ENST00000436759.2_Silent_p.D392D|PLEC_ENST00000354958.2_Silent_p.D343D|PLEC_ENST00000354589.3_Silent_p.D365D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	502	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCTCCACATCCAGCGGGT	0.677													G|||	1159	0.23143	0.0613	0.2867	5008	,	,		16296	0.1409		0.4066	False		,,,				2504	0.3354				p.D502D		Atlas-SNP	.											.	PLEC	1144	.	0			c.T1506C						PASS	.	G	,,,,,,,	440,3688		26,388,1650	32	36	35		1176,1053,1029,1506,999,1095,1107,1095	-5.7	0.6	8	dbSNP_120	35	3220,5166		612,1996,1585	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	638,2384,3235	GG,GA,AA		38.3973,10.6589,29.2472	,,,,,,,	392/4575,351/4534,343/4526,502/4685,333/4516,365/4548,369/4552,365/4548	145008560	3660,8854	2064	4193	6257	SO:0001819	synonymous_variant	5339	exon11			CTCCACATCCAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1506T>C	8.37:g.145008560A>G		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	250	138	0.552	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.702;G|0.298	0.298	strong		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145008560	A	G	145008560	2	3	23	1	0	0	0	0	0	0	0	1	12052	214	8	2		2	PLEC	8	145008560	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2417	145008560	1355462	2243	18699										
PLEC	5339	hgsc.bcm.edu	37	chr8	145011204	145011204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagcttggggttgccgtcAgcgatgtcatcattcctgat	12	10	4	1	rs6993938	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145011204A>G	ENST00000322810.4	-	5	958	c.789T>C	c.(787-789)gcT>gcC	p.A263A	PLEC_ENST00000398774.2_Silent_p.A94A|PLEC_ENST00000527096.1_Silent_p.A153A|PLEC_ENST00000357649.2_Silent_p.A130A|PLEC_ENST00000345136.3_Silent_p.A126A|PLEC_ENST00000356346.3_Silent_p.A112A|PLEC_ENST00000436759.2_Silent_p.A153A|PLEC_ENST00000354958.2_Silent_p.A104A|PLEC_ENST00000354589.3_Silent_p.A126A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	263	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.A153A(1)|p.A263A(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTTGCCGTCAGCGATGTCAT	0.622													G|||	1164	0.232428	0.0613	0.2882	5008	,	,		17817	0.1458		0.4066	False		,,,				2504	0.3344				p.A263A		Atlas-SNP	.											PLEC_ENST00000436759,NS,carcinoma,-2,8	PLEC	1144	8	2	Substitution - coding silent(2)	stomach(2)	c.T789C						PASS	.	G	,,,,,,,	453,3867		28,397,1735	96	103	101		459,336,312,789,282,378,390,378	-11.4	0	8	dbSNP_116	101	3317,5259		646,2025,1617	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	674,2422,3352	GG,GA,AA		38.6777,10.4861,29.2339	,,,,,,,	153/4575,112/4534,104/4526,263/4685,94/4516,126/4548,130/4552,126/4548	145011204	3770,9126	2160	4288	6448	SO:0001819	synonymous_variant	5339	exon5			GCCGTCAGCGATG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.789T>C	8.37:g.145011204A>G		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	205	123	0.6	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.729;C|0.001;G|0.270	0.270	strong		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145011204	A	G	145011204	2	3	23	1	0	0	0	0	0	0	0	1	12052	175	7	3		3	PLEC	8	145011204	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2644	145011204	1352818	2244	18700										
GPAA1	8733	hgsc.bcm.edu	37	chr8	145138063	145138063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgggcatcgcctggttcttGgcgctggttttcccgccgct	14	14	1	0	rs138412600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145138063G>A	ENST00000355091.4	+	2	232	c.111G>A	c.(109-111)ttG>ttA	p.L37L	GPAA1_ENST00000361036.6_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	37					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGTTCTTGGCGCTGGTTT	0.677													G|||	22	0.00439297	0.0008	0.0014	5008	,	,		12607	0.0		0.0189	False		,,,				2504	0.001				p.L37L		Atlas-SNP	.											.	GPAA1	40	.	0			c.G111A						PASS	.	G		16,4062		0,16,2023	24	29	27		111	4	1	8	dbSNP_134	27	153,8217		3,147,4035	no	coding-synonymous	GPAA1	NM_003801.3		3,163,6058	AA,AG,GG		1.828,0.3923,1.3576		37/622	145138063	169,12279	2039	4185	6224	SO:0001819	synonymous_variant	8733	exon2			GTTCTTGGCGCTG	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.111G>A	8.37:g.145138063G>A		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	225	76	0.337778	NM_003801	Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	CCDS43776.1																																																																																			G|0.993;A|0.007	0.007	strong		0.677	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		A	145138063	G	A	145138063	2	1	23	1	0	0	0	0	0	0	0	1	6587	1339	47	2		2	GPAA1	8	145138063	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	126859	145138063	1225959	2245	18701										
CPSF1	29894	hgsc.bcm.edu	37	chr8	145624559	145624559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgcccacggcggcattggCacagggtccaatgttcagga	13	13	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145624559C>T	ENST00000349769.3	-	15	1520	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	476					gene expression (GO:0010467)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGGCATTGGCACAGGGTCCA	0.701																																					p.A476T	NSCLC(133;1088 1848 27708 34777 35269)	Atlas-SNP	.											.	CPSF1	92	.	0			c.G1426A						PASS	.						8	9	9					8																	145624559		2182	4242	6424	SO:0001583	missense	29894	exon15			CATTGGCACAGGG	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1426G>A	8.37:g.145624559C>T	ENSP00000339353:p.Ala476Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	153	36	0.235294	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836638	0.50951	.	.	ENSG00000071894	ENST00000349769	T	0.39406	1.08	5.62	5.62	0.85841	.	0.054386	0.64402	D	0.000001	T	0.34308	0.0893	L	0.32530	0.975	0.58432	D	0.999999	B	0.18310	0.027	B	0.19666	0.026	T	0.09292	-1.0681	10	0.17832	T	0.49	-17.6509	17.1693	0.86825	0.0:1.0:0.0:0.0	.	476	Q10570	CPSF1_HUMAN	T	476	ENSP00000339353:A476T	ENSP00000339353:A476T	A	-	1	0	CPSF1	145595367	1.000000	0.71417	0.995000	0.50966	0.082000	0.17680	5.468000	0.66743	2.658000	0.90341	0.561000	0.74099	GCC	.	.	none		0.701	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		T	145624559	C	T	145624559	3	4	23	1	0	0	0	0	1	0	0	0	3824	710	25	2	3001	2	CPSF1	8	145624559	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	486496	145624559	739463	2246	18702										
NFKBIL2	4796	hgsc.bcm.edu	37	chr8	145661320	145661320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagctccagccagtccccGgccaggcactcctcctccgg	9	21	0	0	rs2721140	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:145661320G>A	ENST00000409379.3	-	17	2525	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	832					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCAGTCCCCGGCCAGGCACT	0.741													g|||	2347	0.46865	0.4115	0.438	5008	,	,		13786	0.4246		0.4662	False		,,,				2504	0.6155				p.A832A		Atlas-SNP	.											TONSL_ENST00000409379,rectum,carcinoma,0,2	TONSL	128	2	0			c.C2496T						PASS	.			1747,2459		402,943,758	8	11	10		2496	-8.9	0	8	dbSNP_100	10	3725,4593		923,1879,1357	no	coding-synonymous	TONSL	NM_013432.4		1325,2822,2115	AA,AG,GG		44.7824,41.5359,43.6921		832/1379	145661320	5472,7052	2103	4159	6262	SO:0001819	synonymous_variant	4796	exon17			GTCCCCGGCCAGG		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2496C>T	8.37:g.145661320G>A		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_013432	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																			G|0.603;A|0.397	0.397	strong		0.741	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661320	G	A	145661320	2	1	23	1	0	0	0	0	0	0	0	1	10382	1103	39	1		1	NFKBIL2	8	145661320	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36761	145661320	702702	2247	18703										
ZNF16	7564	hgsc.bcm.edu	37	chr8	146157265	146157265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttaaggctcgagttctggCtgaaggcttttccacattca	9	9	2	1	rs80044147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:146157265C>T	ENST00000276816.4	-	4	1094	c.908G>A	c.(907-909)aGc>aAc	p.S303N	ZNF16_ENST00000394909.2_Missense_Mutation_p.S303N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	303	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CGAGTTCTGGCTGAAGGCTTT	0.478													C|||	5	0.000998403	0.0008	0.0	5008	,	,		20412	0.0		0.004	False		,,,				2504	0.0				p.S303N		Atlas-SNP	.											.	ZNF16	80	.	0			c.G908A						PASS	.	C	ASN/SER,ASN/SER	9,4397	15.5+/-35.6	0,9,2194	72	72	72		908,908	3.1	1	8	dbSNP_132	72	31,8569	22.2+/-67.0	0,31,4269	yes	missense,missense	ZNF16	NM_001029976.2,NM_006958.2	46,46	0,40,6463	TT,TC,CC		0.3605,0.2043,0.3076	benign,benign	303/683,303/683	146157265	40,12966	2203	4300	6503	SO:0001583	missense	7564	exon3			TTCTGGCTGAAGG	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.908G>A	8.37:g.146157265C>T	ENSP00000276816:p.Ser303Asn	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	159	48	0.301887	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	8.817	0.936690	0.18206	0.002043	0.003605	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.19394	2.15;2.15	4.02	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11110	0.0271	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12268	-1.0554	9	0.42905	T	0.14	.	3.0488	0.06162	0.1772:0.5474:0.1724:0.103	.	303	P17020	ZNF16_HUMAN	N	303	ENSP00000276816:S303N;ENSP00000378369:S303N	ENSP00000276816:S303N	S	-	2	0	ZNF16	146128069	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	-1.354000	0.02614	2.056000	0.61249	0.563000	0.77884	AGC	C|0.998;T|0.002	0.002	strong		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		T	146157265	C	T	146157265	3	4	23	1	0	0	0	0	1	0	0	0	17735	797	28	2	1144	2	ZNF16	8	146157265	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	495945	146157265	206757	2248	18704										
ZNF16	7564	hgsc.bcm.edu	37	chr8	146157339	146157339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgatgcctagaaaagtcTgagtgccctcggaaggcttt	11	10	2	3	rs3735787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:146157339T>C	ENST00000276816.4	-	4	1020	c.834A>G	c.(832-834)tcA>tcG	p.S278S	ZNF16_ENST00000394909.2_Silent_p.S278S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	278	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TAGAAAAGTCTGAGTGCCCTC	0.473													T|||	1127	0.22504	0.1263	0.2104	5008	,	,		20473	0.3383		0.2535	False		,,,				2504	0.2229				p.S278S		Atlas-SNP	.											ZNF16,NS,adenoma,0,1	ZNF16	80	1	0			c.A834G						PASS	.	T	,	570,3836	254.0+/-259.7	39,492,1672	116	114	115		834,834	-0.6	0	8	dbSNP_107	115	2091,6509	362.5+/-332.8	220,1651,2429	no	coding-synonymous,coding-synonymous	ZNF16	NM_001029976.2,NM_006958.2	,	259,2143,4101	CC,CT,TT		24.314,12.9369,20.4598	,	278/683,278/683	146157339	2661,10345	2203	4300	6503	SO:0001819	synonymous_variant	7564	exon3			AAAGTCTGAGTGC	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.834A>G	8.37:g.146157339T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	186	47	0.252688	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	CCDS6437.1																																																																																			T|0.784;C|0.216	0.216	strong		0.473	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		C	146157339	T	C	146157339	2	2	23	1	0	0	0	0	0	0	0	1	17735	1567	55	3		3	ZNF16	8	146157339	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	74	146157339	206683	2249	18705										
ZNF16	7564	hgsc.bcm.edu	37	chr8	146171437	146171437	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatggcttccagctcagtAtcactacagcagggggtacc	11	12	2	1	rs3735785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr8:146171437A>G	ENST00000276816.4	-	3	342	c.156T>C	c.(154-156)gaT>gaC	p.D52D	ZNF16_ENST00000394909.2_Silent_p.D52D	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	52					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CCAGCTCAGTATCACTACAGC	0.582													A|||	1178	0.235224	0.171	0.2061	5008	,	,		20324	0.3284		0.2535	False		,,,				2504	0.228				p.D52D		Atlas-SNP	.											.	ZNF16	80	.	0			c.T156C						PASS	.	A	,	751,3655	306.6+/-289.6	69,613,1521	83	79	80		156,156	-1.5	0	8	dbSNP_107	80	2088,6512	362.0+/-332.6	218,1652,2430	no	coding-synonymous,coding-synonymous	ZNF16	NM_001029976.2,NM_006958.2	,	287,2265,3951	GG,GA,AA		24.2791,17.0449,21.8284	,	52/683,52/683	146171437	2839,10167	2203	4300	6503	SO:0001819	synonymous_variant	7564	exon2			CTCAGTATCACTA	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.156T>C	8.37:g.146171437A>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	146	38	0.260274	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	CCDS6437.1																																																																																			A|0.773;G|0.227	0.227	strong		0.582	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		G	146171437	A	G	146171437	2	3	23	1	0	0	0	0	0	0	0	1	17735	446	16	2		2	ZNF16	8	146171437	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14098	146171437	192585	2250	18706										
DOCK8	81704	hgsc.bcm.edu	37	chr9	304670	304670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgaaacagacgtttgagtCggaaaccttggagtgcagtg	13	8	0	2	rs146490788	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:304670C>T	ENST00000453981.1	+	5	606	c.494C>T	c.(493-495)tCg>tTg	p.S165L	DOCK8_ENST00000432829.2_Missense_Mutation_p.S97L|DOCK8_ENST00000469391.1_Missense_Mutation_p.S97L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	165					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACGTTTGAGTCGGAAACCTTG	0.463																																					p.S165L		Atlas-SNP	.											.	DOCK8	401	.	0			c.C494T						PASS	.	C	LEU/SER,LEU/SER,LEU/SER	3,4403	6.2+/-15.9	0,3,2200	127	134	132		290,290,494	6	1	9	dbSNP_134	132	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	145,145,145	0,10,6493	TT,TC,CC		0.0814,0.0681,0.0769	benign,benign,benign	97/2000,97/2032,165/2100	304670	10,12996	2203	4300	6503	SO:0001583	missense	81704	exon5			TTGAGTCGGAAAC	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.494C>T	9.37:g.304670C>T	ENSP00000408464:p.Ser165Leu	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676168	0.67928	6.81E-4	8.14E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000487230;ENST00000469391	T;T;T;T	0.32272	2.59;2.59;1.46;2.59	6.02	6.02	0.97574	.	0.139758	0.49916	D	0.000133	T	0.41971	0.1182	N	0.19112	0.55	0.58432	D	0.999999	B;D;B	0.89917	0.158;1.0;0.031	B;D;B	0.83275	0.029;0.996;0.006	T	0.11203	-1.0597	10	0.25751	T	0.34	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	97;165;165	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	L	165;165;97;97;97	ENSP00000408464:S165L;ENSP00000394888:S97L;ENSP00000418318:S97L;ENSP00000419438:S97L	ENSP00000287364:S165L	S	+	2	0	DOCK8	294670	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	5.226000	0.65299	2.865000	0.98341	0.655000	0.94253	TCG	C|0.999;T|0.001	0.001	strong		0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	304670	C	T	304670	3	4	23	1	0	0	0	0	1	0	0	0	4693	893	31	1	512	1	DOCK8	9	304670	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10		304670	140908761	2251	18707										
KANK1	23189	hgsc.bcm.edu	37	chr9	712137	712137	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgacaaagaaattgagctGcaacagcagaccatagaatc	9	9	0	5	rs912175	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:712137G>C	ENST00000382303.1	+	7	2023	c.1371G>C	c.(1369-1371)ctG>ctC	p.L457L	KANK1_ENST00000382297.2_Silent_p.L457L|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.L299L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	457	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.L299L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAATTGAGCTGCAACAGCAGA	0.463													G|||	918	0.183307	0.1823	0.2968	5008	,	,		21835	0.1925		0.2107	False		,,,				2504	0.0665				p.L457L		Atlas-SNP	.											KANK1,NS,carcinoma,0,1	KANK1	231	1	1	Substitution - coding silent(1)	stomach(1)	c.G1371C						scavenged	.	G	,	793,3613	318.2+/-295.5	83,627,1493	95	92	93		1371,897	2.6	1	9	dbSNP_86	93	1891,6709	334.5+/-321.0	227,1437,2636	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	310,2064,4129	CC,CG,GG		21.9884,17.9982,20.6366	,	457/1353,299/1195	712137	2684,10322	2203	4300	6503	SO:0001819	synonymous_variant	23189	exon7			TGAGCTGCAACAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1371G>C	9.37:g.712137G>C		Somatic	58	3	0.0517241		WXS	Illumina HiSeq	Phase_I	60	34	0.566667	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			G|0.771;C|0.229	0.229	strong		0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		C	712137	G	C	712137	2	2	23	1	0	0	0	0	0	0	0	1	7976	1306	46	4		4	KANK1	9	712137	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	407467	712137	140501294	2252	18708										
DMRT2	10655	hgsc.bcm.edu	37	chr9	1057204	1057204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaaaactctcggtgaatgaAccactgtcattttctgttga	7	9	3	3	rs4741029	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:1057204A>G	ENST00000358146.2	+	3	1617	c.1617A>G	c.(1615-1617)gaA>gaG	p.E539E	DMRT2_ENST00000302441.6_Silent_p.E539E|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Silent_p.E539E			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	539					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGGTGAATGAACCACTGTCAT	0.393													A|||	1175	0.234625	0.5325	0.1931	5008	,	,		17837	0.1796		0.0537	False		,,,				2504	0.1043				p.E539E		Atlas-SNP	.											.	DMRT2	70	.	0			c.A1617G						PASS	.	A	,,	2057,2349	568.8+/-382.5	487,1083,633	81	82	81		,,1617	1	1	9	dbSNP_111	81	552,8048	151.0+/-205.8	14,524,3762	no	utr-3,utr-3,coding-synonymous	DMRT2	NM_001130865.2,NM_006557.6,NM_181872.4	,,	501,1607,4395	GG,GA,AA		6.4186,46.6863,20.06	,,	,,539/562	1057204	2609,10397	2203	4300	6503	SO:0001819	synonymous_variant	10655	exon4			GAATGAACCACTG	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1617A>G	9.37:g.1057204A>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	101	45	0.445545	NM_181872	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	CCDS6444.1																																																																																			A|0.784;G|0.216	0.216	strong		0.393	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		G	1057204	A	G	1057204	2	3	23	1	0	0	0	0	0	0	0	1	4586	40	2	2		2	DMRT2	9	1057204	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	345067	1057204	140156227	2253	18709										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2029199	2029199	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctcccatcctatgccgacGatggggtccacagacttccc	9	16	1	1	rs10964471	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:2029199G>A	ENST00000382203.1	+	2	386	c.177G>A	c.(175-177)acG>acA	p.T59T	SMARCA2_ENST00000357248.2_Silent_p.T59T|SMARCA2_ENST00000349721.2_Silent_p.T59T|SMARCA2_ENST00000382194.1_Silent_p.T59T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	59					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)		CTATGCCGACGATGGGGTCCA	0.522													G|||	544	0.108626	0.0219	0.0648	5008	,	,		19187	0.2222		0.0905	False		,,,				2504	0.1585				p.T59T		Atlas-SNP	.											.	SMARCA2	313	.	0			c.G177A						PASS	.	G	,	126,4280	91.1+/-129.8	2,122,2079	41	35	37		177,177	-11.2	0	9	dbSNP_120	37	740,7860	176.6+/-226.4	27,686,3587	no	coding-synonymous,coding-synonymous	SMARCA2	NM_003070.3,NM_139045.2	,	29,808,5666	AA,AG,GG		8.6047,2.8597,6.6585	,	59/1591,59/1573	2029199	866,12140	2203	4300	6503	SO:0001819	synonymous_variant	6595	exon2			GCCGACGATGGGG	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.177G>A	9.37:g.2029199G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	152	78	0.513158	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																			G|0.913;A|0.086	0.086	strong		0.522	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2029199	G	A	2029199	2	1	23	1	0	0	0	0	0	0	0	1	14769	1045	37	1		1	SMARCA2	9	2029199	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	971995	2029199	139184232	2254	18710										
GLIS3	169792	hgsc.bcm.edu	37	chr9	4118111	4118111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtaagggggtggggggcctGggggcggcggcagaggaggg	28	5	0	1	rs6415788	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:4118111G>T	ENST00000324333.10	-	3	1095	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.P456Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	301	Pro-rich.		P -> Q (in dbSNP:rs6415788). {ECO:0000269|PubMed:15489334}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		tggggggcctgggggcggcgg	0.731													T|||	3386	0.676118	0.6006	0.7622	5008	,	,		9673	0.874		0.6302	False		,,,				2504	0.5603				p.P456Q		Atlas-SNP	.											.	GLIS3	152	.	0			c.C1367A						PASS	.	T	GLN/PRO,GLN/PRO	2499,1143		894,711,216	8	11	10		1367,902	5.4	1	9	dbSNP_116	10	4958,2542		1716,1526,508	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	76,76	2610,2237,724	TT,TG,GG		33.8933,31.3839,33.0731	benign,benign	456/931,301/776	4118111	7457,3685	1821	3750	5571	SO:0001583	missense	169792	exon4			GGGCCTGGGGGCG	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.902C>A	9.37:g.4118111G>T	ENSP00000325494:p.Pro301Gln	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	19	11	0.578947	NM_001042413	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	1503	0.6881868131868132	289	0.5873983739837398	261	0.7209944751381215	500	0.8741258741258742	453	0.5976253298153035	T	1.187	-0.636435	0.03557	0.686161	0.661067	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10192	2.92;2.9	5.37	5.37	0.77165	.	0.000000	0.47852	N	0.000210	T	0.00012	0.0000	N	0.01048	-1.04	0.42193	P	0.008264000000000049	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34576	-0.9823	9	0.02654	T	1	.	12.6151	0.56571	0.0:0.0:0.1388:0.8612	rs6415788;rs13294473;rs59237658;rs6415788	456;301	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	Q	301;456	ENSP00000325494:P301Q;ENSP00000371398:P456Q	ENSP00000325494:P301Q	P	-	2	0	GLIS3	4108111	1.000000	0.71417	0.971000	0.41717	0.160000	0.22226	4.123000	0.57917	0.872000	0.35775	-0.256000	0.11100	CCA	G|0.313;T|0.687	0.687	strong		0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		T	4118111	G	T	4118111	3	4	23	1	0	0	0	0	1	0	0	0	6447	1348	47	4	1457	4	GLIS3	9	4118111	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2088912	4118111	137095320	2255	18711										
GLIS3	169792	hgsc.bcm.edu	37	chr9	4286248	4286248	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctgagggcatcttgaGatggaggttgttagcaaggc	14	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:4286248G>T	ENST00000381971.3	-	2	771	c.178C>A	c.(178-180)Ctc>Atc	p.L60I		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCATCTTGAGATGGAGGTTG	0.592																																					p.L60I		Atlas-SNP	.											.	GLIS3	152	.	0			c.C178A						PASS	.						64	70	68					9																	4286248		2088	4214	6302	SO:0001583	missense	169792	exon2			TCTTGAGATGGAG	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.178C>A	9.37:g.4286248G>T	ENSP00000371398:p.Leu60Ile	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	145	55	0.37931	NM_001042413	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	CCDS43784.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781727	0.49891	.	.	ENSG00000107249	ENST00000381971;ENST00000477901;ENST00000481827	T	0.12361	2.69	5.75	5.75	0.90469	.	.	.	.	.	T	0.19765	0.0475	N	0.24115	0.695	0.29128	N	0.879822	D;P	0.63880	0.993;0.882	P;P	0.61397	0.888;0.477	T	0.06409	-1.0828	9	0.62326	D	0.03	.	8.9189	0.35599	0.1588:0.0:0.8412:0.0	.	60;60	F8WEV9;Q8NEA6-2	.;.	I	60	ENSP00000371398:L60I	ENSP00000371398:L60I	L	-	1	0	GLIS3	4276248	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.698000	0.54771	2.711000	0.92665	0.655000	0.94253	CTC	.	.	none		0.592	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		T	4286248	G	T	4286248	3	4	23	1	0	0	0	0	1	0	0	0	6447	942	33	4	2654	4	GLIS3	9	4286248	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	168137	4286248	136927183	2256	18712										
SLC1A1	6505	hgsc.bcm.edu	37	chr9	4576680	4576680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaatcaacatggatgggacTgcgctctatgaagcagtggc	12	9	2	1	rs301430	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:4576680T>C	ENST00000262352.3	+	10	1346	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	370					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TGGATGGGACTGCGCTCTATG	0.517													C|||	2295	0.458267	0.5129	0.3833	5008	,	,		20896	0.5883		0.328	False		,,,				2504	0.4376				p.T370T		Atlas-SNP	.											.	SLC1A1	43	.	0			c.T1110C						PASS	.	C		2188,2218	589.6+/-387.2	534,1120,549	230	207	215		1110	-11.1	0	9	dbSNP_79	215	2418,6182	699.4+/-405.1	358,1702,2240	yes	coding-synonymous	SLC1A1	NM_004170.5		892,2822,2789	CC,CT,TT		28.1163,49.6596,35.4144		370/525	4576680	4606,8400	2203	4300	6503	SO:0001819	synonymous_variant	6505	exon10			TGGGACTGCGCTC		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1110T>C	9.37:g.4576680T>C		Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	247	117	0.473684	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	CCDS6452.1	982	0.44963369963369965	241	0.4898373983739837	142	0.39226519337016574	349	0.6101398601398601	250	0.32981530343007914	C	1.345	-0.593042	0.03771	0.496596	0.281163	ENSG00000106688	ENST00000422398	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999986	.	.	.	.	.	.	T	0.29305	-1.0016	3	.	.	.	.	1.9715	0.03407	0.1473:0.2551:0.3025:0.2951	rs301430;rs301978;rs2146420;rs57708047;rs301430	.	.	.	R	133	.	.	C	+	1	0	SLC1A1	4566680	0.000000	0.05858	0.007000	0.13788	0.243000	0.25628	-6.163000	0.00078	-3.284000	0.00196	-3.707000	0.00023	TGC	T|0.604;C|0.396	0.396	strong		0.517	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			C	4576680	T	C	4576680	2	2	23	1	0	0	0	0	0	0	0	1	14431	1567	55	3		3	SLC1A1	9	4576680	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	290432	4576680	136636751	2257	18713										
JAK2	3717	hgsc.bcm.edu	37	chr9	5072551	5072551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggcgtacgaagagaagtAggagactacggtcaactgca	13	7	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:5072551A>G	ENST00000381652.3	+	13	2195	c.1701A>G	c.(1699-1701)gtA>gtG	p.V567V	JAK2_ENST00000544510.1_Silent_p.V418V|JAK2_ENST00000539801.1_Silent_p.V567V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	567	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGAGAAGTAGGAGACTACG	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																												p.V567V		Atlas-SNP	.		Dom	yes		9	9p24	3717	Janus kinase 2		L	JAK2,caecum,carcinoma,0,3	JAK2	35466	3	0			c.A1701G						scavenged	.						68	69	69					9																	5072551		2203	4300	6503	SO:0001819	synonymous_variant	3717	exon13	Familial Cancer Database		AGAAGTAGGAGAC		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1701A>G	9.37:g.5072551A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	142	4	0.028169	NM_004972	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																			.	.	none		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			G	5072551	A	G	5072551	2	3	23	1	0	0	0	0	0	0	0	1	7938	407	15	3		3	JAK2	9	5072551	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	495871	5072551	136140880	2258	18714										
INSL4	3641	hgsc.bcm.edu	37	chr9	5231712	5231712	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctgctggaatctggacgTcccaaaggtgagagccctgg	15	10	1	1	rs12720	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:5231712T>A	ENST00000239316.4	+	1	294	c.189T>A	c.(187-189)cgT>cgA	p.R63R		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	63					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AATCTGGACGTCCCAAAGGTG	0.512													A|||	1999	0.399161	0.7337	0.3775	5008	,	,		19844	0.2222		0.2883	False		,,,				2504	0.2587				p.R63R		Atlas-SNP	.											INSL4,bladder,carcinoma,+2,1	INSL4	20	1	0			c.T189A						PASS	.	A		2877,1529	483.3+/-359.7	937,1003,263	46	46	46		189	0.4	0	9	dbSNP_52	46	2350,6250	701.5+/-405.2	305,1740,2255	no	coding-synonymous	INSL4	NM_002195.1		1242,2743,2518	AA,AT,TT		27.3256,34.7027,40.1891		63/140	5231712	5227,7779	2203	4300	6503	SO:0001819	synonymous_variant	3641	exon1			TGGACGTCCCAAA		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.189T>A	9.37:g.5231712T>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	125	45	0.36	NM_002195	A8K678|Q5W127	Silent	SNP	ENST00000239316.4	37	CCDS6459.1																																																																																			T|0.613;A|0.387	0.387	strong		0.512	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		A	5231712	T	A	5231712	2	1	23	1	0	0	0	0	0	0	0	1	7768	1654	58	5		5	INSL4	9	5231712	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	159161	5231712	135981719	2259	18715										
KIAA1432	57589	hgsc.bcm.edu	37	chr9	5774225	5774225	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaccttttcaggatgggacTtacgactgttctgtgtccta	10	9	2	0	rs3739648	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:5774225T>G	ENST00000414202.2	+	26	4442	c.4251T>G	c.(4249-4251)acT>acG	p.T1417T	KIAA1432_ENST00000449720.2_Silent_p.T1301T|KIAA1432_ENST00000418622.3_Silent_p.T1338T	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)		AGGATGGGACTTACGACTGTT	0.498													T|||	1662	0.331869	0.1233	0.2968	5008	,	,		19529	0.5853		0.2853	False		,,,				2504	0.4254				p.T1417T		Atlas-SNP	.											KIAA1432,NS,carcinoma,+2,1	KIAA1432	97	1	0			c.T4251G						scavenged	.	T	,	610,3796	266.5+/-267.3	47,516,1640	79	66	71		4140,4251	0.3	1	9	dbSNP_107	71	2639,5961	424.5+/-354.7	408,1823,2069	no	coding-synonymous,coding-synonymous	KIAA1432	NM_001206557.1,NM_020829.3	,	455,2339,3709	GG,GT,TT		30.686,13.8448,24.9808	,	1380/1387,1417/1424	5774225	3249,9757	2203	4300	6503	SO:0001819	synonymous_variant	57589	exon26			TGGGACTTACGAC																												ENST00000414202.2:c.4251T>G	9.37:g.5774225T>G		Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	110	53	0.481818	NM_020829		Silent	SNP	ENST00000414202.2	37	CCDS34982.2	741	0.3392857142857143	48	0.0975609756097561	114	0.3149171270718232	350	0.6118881118881119	229	0.3021108179419525	T	6.032	0.374309	0.11409	0.138448	0.30686	ENSG00000107036	ENST00000545641	.	.	.	5.7	0.353	0.16058	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999835	.	.	.	.	.	.	T	0.47812	-0.9088	3	.	.	.	-11.366	10.5079	0.44845	0.0:0.439:0.0:0.561	rs3739648;rs58954556;rs3739648	.	.	.	V	1309	.	.	L	+	1	2	KIAA1432	5764225	0.988000	0.35896	0.997000	0.53966	0.989000	0.77384	0.146000	0.16180	0.127000	0.18452	0.379000	0.24179	TTA	T|0.717;G|0.283	0.283	strong		0.498	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			G	5774225	T	G	5774225	2	3	23	1	0	0	0	0	0	0	0	1	8233	1596	56	5		5	KIAA1432	9	5774225	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	542513	5774225	135439206	2260	18716										
ERMP1	79956	hgsc.bcm.edu	37	chr9	5801283	5801283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacataccaaagttaaagTtagcatggttttttttgtgc	8	6	0	0	rs147318623	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:5801283T>A	ENST00000339450.5	-	11	2049	c.1960A>T	c.(1960-1962)Act>Tct	p.T654S	ERMP1_ENST00000543230.1_Missense_Mutation_p.T232S|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	654						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAGTTAAAGTTAGCATGGTT	0.363													T|||	9	0.00179712	0.0	0.0014	5008	,	,		22068	0.0		0.008	False		,,,				2504	0.0				p.T654S		Atlas-SNP	.											.	ERMP1	63	.	0			c.A1960T						PASS	.	T	SER/THR	15,4391	22.3+/-47.3	0,15,2188	145	152	149		1960	-2.8	0	9	dbSNP_134	149	93,8507	51.9+/-112.3	3,87,4210	yes	missense	ERMP1	NM_024896.2	58	3,102,6398	AA,AT,TT		1.0814,0.3404,0.8304	benign	654/905	5801283	108,12898	2203	4300	6503	SO:0001583	missense	79956	exon11			TTAAAGTTAGCAT	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1960A>T	9.37:g.5801283T>A	ENSP00000340427:p.Thr654Ser	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	196	100	0.510204	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	T	5.663	0.306992	0.10733	0.003404	0.010814	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.19532	2.14;2.14	5.66	-2.79	0.05841	.	0.615286	0.18988	N	0.125692	T	0.04770	0.0129	N	0.11560	0.145	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	10	0.19590	T	0.45	-0.9539	3.4422	0.07468	0.1017:0.3099:0.1041:0.4843	.	654	Q7Z2K6	ERMP1_HUMAN	S	654;232	ENSP00000340427:T654S;ENSP00000439368:T232S	ENSP00000340427:T654S	T	-	1	0	ERMP1	5791283	0.015000	0.18098	0.000000	0.03702	0.921000	0.55340	0.143000	0.16115	-0.378000	0.07918	0.533000	0.62120	ACT	T|0.993;A|0.007	0.007	strong		0.363	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		A	5801283	T	A	5801283	3	1	23	1	0	0	0	0	1	0	0	0	5236	1725	60	5	774	5	ERMP1	9	5801283	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	27058	5801283	135412148	2261	18717										
GLDC	2731	hgsc.bcm.edu	37	chr9	6589230	6589230	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggtgaggaacgggctggtCctcttgaacacagaccctgg	15	10	1	3	rs121964976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:6589230C>T	ENST00000321612.6	-	12	1695	c.1545G>A	c.(1543-1545)agG>agA	p.R515R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	515			R -> S (in NKH; dbSNP:rs121964976). {ECO:0000269|PubMed:11286506}.		glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ACGGGCTGGTCCTCTTGAACA	0.498													C|||	87	0.0173722	0.0197	0.0317	5008	,	,		15961	0.0		0.0358	False		,,,				2504	0.0031				p.R515R		Atlas-SNP	.											.	GLDC	118	.	0			c.G1545A	GRCh37	CM002029	GLDC	M	rs121964976	PASS	.	C		26,4380	31.7+/-61.6	0,26,2177	172	137	149	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1545	-2.2	0.9	9	dbSNP_133	149	264,8336	101.9+/-163.1	4,256,4040	no	coding-synonymous	GLDC	NM_000170.2		4,282,6217	TT,TC,CC		3.0698,0.5901,2.2297		515/1021	6589230	290,12716	2203	4300	6503	SO:0001819	synonymous_variant	2731	exon12			GCTGGTCCTCTTG	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1545G>A	9.37:g.6589230C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	114	58	0.508772	NM_000170	Q2M2F8	Silent	SNP	ENST00000321612.6	37	CCDS34987.1																																																																																			T|0.021;G|0.000;C|0.978	0.021	strong		0.498	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		T	6589230	C	T	6589230	2	4	23	1	0	0	0	0	0	0	0	1	6433	854	30	2		2	GLDC	9	6589230	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	787947	6589230	134624201	2262	18718										
KDM4C	23081	hgsc.bcm.edu	37	chr9	7170006	7170006	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggattaattctaaaaaaaGccaatgcaacattttcctta	4	7	1	0	rs7022348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:7170006G>A	ENST00000381309.3	+	21	3559				KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.S1037N|KDM4C_ENST00000428870.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCTAAAAAAAGCCAATGCAAC	0.398													G|||	667	0.133187	0.1876	0.1369	5008	,	,		19592	0.001		0.2366	False		,,,				2504	0.0869				p.S1037N		Atlas-SNP	.											.	KDM4C	186	.	0			c.G3110A						PASS	.	G	ASN/SER,	232,1152		24,184,484	50	44	46		3110,	0.9	0	9	dbSNP_116	46	728,2454		83,562,946	yes	missense,intron	KDM4C	NM_001146694.1,NM_015061.3	46,	107,746,1430	AA,AG,GG		22.8787,16.763,21.025	,	1037/1048,	7170006	960,3606	692	1591	2283	SO:0001627	intron_variant	23081	exon21			AAAAAAGCCAATG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2994+116G>A	9.37:g.7170006G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	111	58	0.522523	NM_001146694	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	316	0.1446886446886447	87	0.17682926829268292	56	0.15469613259668508	0	0.0	173	0.22823218997361477	G	11.29	1.595464	0.28445	0.16763	0.228787	ENSG00000107077	ENST00000381306	T	0.16196	2.36	4.15	0.896	0.19253	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.50171	P	1.4300000000000423E-4	B	0.06786	0.001	B	0.09377	0.004	T	0.45556	-0.9253	6	.	.	.	.	6.7317	0.23387	0.3685:0.0:0.6315:0.0	rs7022348;rs7022348	1037	Q9H3R0-2	.	N	1037	ENSP00000370707:S1037N	.	S	+	2	0	KDM4C	7160006	0.000000	0.05858	0.011000	0.14972	0.016000	0.09150	-0.100000	0.10990	0.173000	0.19788	0.467000	0.42956	AGC	G|0.846;A|0.154	0.154	strong		0.398	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		A	7170006	G	A	7170006	1	1	23	0	1	0	0	0	0	0	0	0	8130	971	34	2		2	KDM4C	9	7170006	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	580776	7170006	134043425	2263	18719										
C9orf150	286343	hgsc.bcm.edu	37	chr9	12775855	12775855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacccctgcggggggagcggTggtggtggcggcggcggcgg	25	10	0	0	rs572021640		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:12775855T>C	ENST00000319264.3	+	1	836	c.141T>C	c.(139-141)ggT>ggC	p.G47G	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	50	Gly-rich.		Missing.														GGGGGAgcggtggtggtggcg	0.677																																					p.G47G		Atlas-SNP	.											.	.	.	.	0			c.T141C						PASS	.						5	6	5					9																	12775855		2076	4056	6132	SO:0001819	synonymous_variant	286343	exon1			GAGCGGTGGTGGT	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.141T>C	9.37:g.12775855T>C		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	17	7	0.411765	NM_203403	Q5VZX7|Q8N923|Q8NCG2	Silent	SNP	ENST00000319264.3	37	CCDS6473.1																																																																																			.	.	none		0.677	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		C	12775855	T	C	12775855	2	2	23	1	0	0	0	0	0	0	0	1	2462	1683	59	2		2	C9orf150	9	12775855	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5605849	12775855	128437576	2264	18720										
C9orf150	286343	hgsc.bcm.edu	37	chr9	12821695	12821695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcagtgacagctccctcaTagaggactcacaggcactac	8	13	3	2	rs61755264	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:12821695T>C	ENST00000319264.3	+	2	1318	c.623T>C	c.(622-624)aTa>aCa	p.I208T		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	211																	AGCTCCCTCATAGAGGACTCA	0.493													T|||	33	0.00658946	0.0008	0.0144	5008	,	,		18761	0.0		0.0129	False		,,,				2504	0.0092				p.I208T		Atlas-SNP	.											.	.	.	.	0			c.T623C						PASS	.	T	THR/ILE	7,4399	12.9+/-30.5	0,7,2196	182	164	170		623	4.4	0.4	9	dbSNP_129	170	78,8522	45.8+/-104.6	0,78,4222	yes	missense	C9orf150	NM_203403.1	89	0,85,6418	CC,CT,TT		0.907,0.1589,0.6535	benign	208/229	12821695	85,12921	2203	4300	6503	SO:0001583	missense	286343	exon2			CCCTCATAGAGGA	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.623T>C	9.37:g.12821695T>C	ENSP00000321026:p.Ile208Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_203403	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	17	0.007783882783882784	0	0.0	7	0.019337016574585635	0	0.0	10	0.013192612137203167	T	8.760	0.923302	0.18056	0.001589	0.00907	ENSG00000153714	ENST00000319264	T	0.47528	0.84	5.59	4.45	0.53987	.	1.264020	0.05579	N	0.572551	T	0.20659	0.0497	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17899	-1.0354	10	0.44086	T	0.13	.	6.1872	0.20503	0.0:0.1423:0.1354:0.7223	rs61755264	211	Q8IV03	CI150_HUMAN	T	208	ENSP00000321026:I208T	ENSP00000321026:I208T	I	+	2	0	C9orf150	12811695	0.131000	0.22433	0.357000	0.25798	0.813000	0.45954	1.783000	0.38664	0.956000	0.37904	0.460000	0.39030	ATA	T|0.992;C|0.008	0.008	strong		0.493	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		C	12821695	T	C	12821695	3	2	23	1	0	0	0	0	1	0	0	0	2462	1406	49	2	629	2	C9orf150	9	12821695	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	45840	12821695	128391736	2265	18721										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13150531	13150531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctacgattctatctccaggTttcaaggttccatttttgcc	6	11	4	0	rs10756457	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:13150531T>C	ENST00000319217.7	-	25	3856	c.3609A>G	c.(3607-3609)aaA>aaG	p.K1203K	MPDZ_ENST00000447879.1_Silent_p.K1203K|MPDZ_ENST00000536827.1_Silent_p.K1203K|MPDZ_ENST00000541718.1_Silent_p.K1203K|MPDZ_ENST00000538841.1_Silent_p.K95K|MPDZ_ENST00000381022.2_Silent_p.K1203K|MPDZ_ENST00000381015.4_Silent_p.K1203K|MPDZ_ENST00000546205.1_Silent_p.K1217K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1203	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TATCTCCAGGTTTCAAGGTTC	0.368													T|||	2392	0.477636	0.6982	0.3473	5008	,	,		13929	0.496		0.33	False		,,,				2504	0.4049				p.K1203K		Atlas-SNP	.											.	MPDZ	324	.	0			c.A3609G						PASS	.	T		2224,1466		675,874,296	164	162	163		3609	0.9	1	9	dbSNP_120	163	2645,5529		442,1761,1884	no	coding-synonymous	MPDZ	NM_003829.3		1117,2635,2180	CC,CT,TT		32.3587,39.729,41.0401		1203/2042	13150531	4869,6995	1845	4087	5932	SO:0001819	synonymous_variant	8777	exon25			TCCAGGTTTCAAG	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3609A>G	9.37:g.13150531T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	140	59	0.421429	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				T|0.540;C|0.460	0.460	strong		0.368	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13150531	T	C	13150531	2	2	23	1	0	0	0	0	0	0	0	1	9722	1722	60	2		2	MPDZ	9	13150531	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	328836	13150531	128062900	2266	18722										
MPDZ	8777	hgsc.bcm.edu	37	chr9	13176312	13176312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccccatacttatgtccacCgaaggtgtattctcatcctg	8	13	1	0	rs2274856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:13176312C>T	ENST00000319217.7	-	20	3001	c.2754G>A	c.(2752-2754)tcG>tcA	p.S918S	MPDZ_ENST00000447879.1_Silent_p.S918S|MPDZ_ENST00000536827.1_Silent_p.S918S|MPDZ_ENST00000541718.1_Silent_p.S918S|MPDZ_ENST00000381022.2_Silent_p.S918S|MPDZ_ENST00000381015.4_Silent_p.S918S|MPDZ_ENST00000546205.1_Silent_p.S918S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	918					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTATGTCCACCGAAGGTGTAT	0.388													C|||	1969	0.393171	0.5257	0.3012	5008	,	,		18249	0.495		0.2594	False		,,,				2504	0.3119				p.S918S		Atlas-SNP	.											.	MPDZ	324	.	0			c.G2754A						PASS	.	C		1657,2057		373,911,573	92	79	83		2754	-11.6	0	9	dbSNP_100	83	2132,6068		295,1542,2263	no	coding-synonymous	MPDZ	NM_003829.3		668,2453,2836	TT,TC,CC		26.0,44.615,31.8029		918/2042	13176312	3789,8125	1857	4100	5957	SO:0001819	synonymous_variant	8777	exon20			GTCCACCGAAGGT	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2754G>A	9.37:g.13176312C>T		Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	256	138	0.539062	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				C|0.613;T|0.387	0.387	strong		0.388	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		T	13176312	C	T	13176312	2	4	23	1	0	0	0	0	0	0	0	1	9722	639	23	1		1	MPDZ	9	13176312	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25781	13176312	128037119	2267	18723										
FREM1	158326	hgsc.bcm.edu	37	chr9	14842557	14842557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtgatggccatcaaataTccggaagaccacgaagtctt	10	10	2	2	rs1353223	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:14842557T>C	ENST00000380880.3	-	9	2278	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	FREM1_ENST00000380881.4_Missense_Mutation_p.I500V|FREM1_ENST00000422223.2_Missense_Mutation_p.I499V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	499			I -> V (in dbSNP:rs1353223).		cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCAAATATCCGGAAGACC	0.498													T|||	327	0.0652955	0.149	0.049	5008	,	,		20672	0.0		0.0765	False		,,,				2504	0.0194				p.I499V		Atlas-SNP	.											.	FREM1	261	.	0			c.A1495G						PASS	.	T	VAL/ILE	561,3519		41,479,1520	131	134	133		1495	5.6	1	9	dbSNP_88	133	599,7797		17,565,3616	yes	missense	FREM1	NM_144966.5	29	58,1044,5136	CC,CT,TT		7.1343,13.75,9.2979	probably-damaging	499/2180	14842557	1160,11316	2040	4198	6238	SO:0001583	missense	158326	exon10			CAAATATCCGGAA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1495A>G	9.37:g.14842557T>C	ENSP00000370262:p.Ile499Val	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	56	22	0.392857	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	162	0.07417582417582418	88	0.17886178861788618	16	0.04419889502762431	0	0.0	58	0.07651715039577836	T	26.1	4.703239	0.88924	0.1375	0.071343	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.28454	1.61;1.61;1.61	5.63	5.63	0.86233	.	0.052976	0.85682	D	0.000000	T	0.00073	0.0002	L	0.35414	1.06	0.09310	P	0.99999626827	D	0.65815	0.995	P	0.58172	0.834	T	0.05037	-1.0910	9	0.14656	T	0.56	-17.6089	16.1485	0.81594	0.0:0.0:0.0:1.0	rs1353223;rs1353223	499	Q5H8C1	FREM1_HUMAN	V	500;499;499	ENSP00000370263:I500V;ENSP00000412940:I499V;ENSP00000370262:I499V	ENSP00000370257:I502V	I	-	1	0	FREM1	14832557	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.914000	0.69964	2.281000	0.76405	0.533000	0.62120	ATA	T|0.917;C|0.083	0.083	strong		0.498	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14842557	T	C	14842557	3	2	23	1	0	0	0	0	1	0	0	0	6044	1435	50	2	5210	2	FREM1	9	14842557	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1666245	14842557	126370874	2268	18724										
BNC2	54796	hgsc.bcm.edu	37	chr9	16435714	16435714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggggtctgggctagaacaTaggtcaccttctggggagaa	15	7	3	2	rs3739715	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:16435714T>C	ENST00000380672.4	-	6	2535	c.2478A>G	c.(2476-2478)ctA>ctG	p.L826L	BNC2_ENST00000545497.1_Silent_p.L731L|BNC2_ENST00000380667.2_Silent_p.L759L|BNC2_ENST00000380666.2_Silent_p.L826L	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGCTAGAACATAGGTCACCTT	0.473													C|||	395	0.0788738	0.1551	0.0548	5008	,	,		18864	0.0268		0.0716	False		,,,				2504	0.0542				p.L826L		Atlas-SNP	.											.	BNC2	166	.	0			c.A2478G						PASS	.	C		623,3783	767.9+/-413.5	54,515,1634	71	68	69		2478	5	1	9	dbSNP_107	69	722,7878	786.7+/-407.6	27,668,3605	no	coding-synonymous	BNC2	NM_017637.5		81,1183,5239	CC,CT,TT		8.3953,14.1398,10.3414		826/1100	16435714	1345,11661	2203	4300	6503	SO:0001819	synonymous_variant	54796	exon6			AGAACATAGGTCA	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2478A>G	9.37:g.16435714T>C		Somatic	216	1	0.00462963		WXS	Illumina HiSeq	Phase_I	181	87	0.480663	NM_017637		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																			T|0.903;C|0.097	0.097	strong		0.473	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		C	16435714	T	C	16435714	2	2	23	1	0	0	0	0	0	0	0	1	1475	1393	49	2		2	BNC2	9	16435714	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1593157	16435714	124777717	2269	18725										
CNTLN	54875	hgsc.bcm.edu	37	chr9	17135322	17135322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcgcgcccatggggtccAgacggctagagggcatctcg	15	13	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:17135322A>G	ENST00000380647.3	+	1	343	c.259A>G	c.(259-261)Aga>Gga	p.R87G	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Missense_Mutation_p.R87G|CNTLN_ENST00000380641.4_Missense_Mutation_p.R87G|CNTLN_ENST00000262360.5_Missense_Mutation_p.R87G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	87					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CATGGGGTCCAGACGGCTAGA	0.652																																					p.R87G		Atlas-SNP	.											.	CNTLN	128	.	0			c.A259G						PASS	.						22	28	26					9																	17135322		1996	4163	6159	SO:0001583	missense	54875	exon1			GGGTCCAGACGGC	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.259A>G	9.37:g.17135322A>G	ENSP00000370021:p.Arg87Gly	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135748	0.37728	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.4	-5.91	0.02269	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.41395	-0.9511	9	0.13470	T	0.59	.	2.1611	0.03825	0.2599:0.2501:0.3609:0.1291	.	87;87;87;87	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	G	87	ENSP00000370021:R87G;ENSP00000392798:R87G;ENSP00000262360:R87G;ENSP00000370015:R87G	ENSP00000262360:R87G	R	+	1	2	CNTLN	17125322	0.756000	0.28383	0.210000	0.23637	0.766000	0.43426	-0.298000	0.08265	-1.336000	0.02238	-0.478000	0.04885	AGA	.	.	none		0.652	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		G	17135322	A	G	17135322	3	3	23	1	0	0	0	0	1	0	0	0	3639	180	7	3	261	3	CNTLN	9	17135322	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	699608	17135322	124078109	2270	18726										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18504916	18504916	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctcacgcacctgcgggggTggggcctcctactctctgag	14	14	2	1	rs2277160	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:18504916T>A	ENST00000380548.4	+	2	492	c.153T>A	c.(151-153)ggT>ggA	p.G51G	ADAMTSL1_ENST00000431052.2_Silent_p.G51G|ADAMTSL1_ENST00000276935.6_Silent_p.G51G|ADAMTSL1_ENST00000380570.4_Silent_p.G51G|ADAMTSL1_ENST00000327883.7_Silent_p.G51G|ADAMTSL1_ENST00000380566.4_Silent_p.G51G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	51	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGCGGGGGTGGGGCCTCCT	0.627													A|||	2859	0.570887	0.6725	0.5418	5008	,	,		16226	0.4444		0.5755	False		,,,				2504	0.5798				p.G51G		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.T153A						PASS	.	A	,	2876,1530	481.9+/-359.3	952,972,279	41	44	43		153,153	0.1	0.7	9	dbSNP_100	43	4844,3756	530.6+/-381.8	1368,2108,824	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	2320,3080,1103	AA,AT,TT		43.6744,34.7254,40.6428	,	51/1763,51/526	18504916	7720,5286	2203	4300	6503	SO:0001819	synonymous_variant	92949	exon2			CGGGGGTGGGGCC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.153T>A	9.37:g.18504916T>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	43	40	0.930233	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																			T|0.415;A|0.585	0.585	strong		0.627	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18504916	T	A	18504916	2	1	23	1	0	0	0	0	0	0	0	1	274	1683	59	5		5	ADAMTSL1	9	18504916	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1369594	18504916	122708515	2271	18727										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18777196	18777196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggaagggcggcccgaaggAggccctgcagacccacaaac	15	13	0	1	rs41268983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:18777196A>C	ENST00000380548.4	+	19	3308	c.2969A>C	c.(2968-2970)gAg>gCg	p.E990A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	990						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCCCGAAGGAGGCCCTGCAG	0.662													A|||	457	0.091254	0.0113	0.0749	5008	,	,		15776	0.122		0.1431	False		,,,				2504	0.1258				p.E990A		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.A2969C						PASS	.	A	ALA/GLU	143,3647		5,133,1757	24	28	27		2969	5.8	1	9	dbSNP_127	27	1265,6929		95,1075,2927	yes	missense	ADAMTSL1	NM_001040272.5	107	100,1208,4684	CC,CA,AA		15.4381,3.7731,11.749	benign	990/1763	18777196	1408,10576	1895	4097	5992	SO:0001583	missense	92949	exon19			CGAAGGAGGCCCT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2969A>C	9.37:g.18777196A>C	ENSP00000369921:p.Glu990Ala	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	66	35	0.530303	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	208	0.09523809523809523	7	0.014227642276422764	30	0.08287292817679558	60	0.1048951048951049	111	0.14643799472295516	A	12.05	1.821260	0.32237	0.037731	0.154381	ENSG00000178031	ENST00000380548	T	0.63417	-0.04	5.75	5.75	0.90469	.	2.098050	0.05591	N	0.574590	T	0.00440	0.0014	N	0.14661	0.345	0.09310	P	1.0	P	0.52316	0.952	P	0.46885	0.53	T	0.11817	-1.0572	9	0.18276	T	0.48	.	16.0488	0.80740	1.0:0.0:0.0:0.0	rs41268983	990	Q8N6G6	ATL1_HUMAN	A	990	ENSP00000369921:E990A	ENSP00000369921:E990A	E	+	2	0	ADAMTSL1	18767196	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	4.474000	0.60203	2.199000	0.70637	0.374000	0.22700	GAG	A|0.895;C|0.105	0.105	strong		0.662	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			C	18777196	A	C	18777196	3	2	23	1	0	0	0	0	1	0	0	0	274	304	11	5	3047	5	ADAMTSL1	9	18777196	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	272280	18777196	122436235	2272	18728										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18777422	18777422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgcagagcaagtgctcctGcacctgcccttcaccatggt	11	14	1	1	rs45579937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:18777422G>A	ENST00000380548.4	+	19	3534	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1065						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGTGCTCCTGCACCTGCCCT	0.682													G|||	501	0.10004	0.0136	0.0807	5008	,	,		16632	0.123		0.171	False		,,,				2504	0.1339				p.L1065L		Atlas-SNP	.											ADAMTSL1_ENST00000380548,NS,carcinoma,0,1	ADAMTSL1	306	1	0			c.G3195A						PASS	.	G		186,3920		4,178,1871	12	16	14		3195	2.8	0.7	9	dbSNP_127	14	1652,6722		169,1314,2704	no	coding-synonymous	ADAMTSL1	NM_001040272.5		173,1492,4575	AA,AG,GG		19.7277,4.53,14.7276		1065/1763	18777422	1838,10642	2053	4187	6240	SO:0001819	synonymous_variant	92949	exon19			GCTCCTGCACCTG	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3195G>A	9.37:g.18777422G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	91	57	0.626374	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																			G|0.884;A|0.116	0.116	strong		0.682	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18777422	G	A	18777422	2	1	23	1	0	0	0	0	0	0	0	1	274	1306	46	2		2	ADAMTSL1	9	18777422	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	226	18777422	122436009	2273	18729										
DENND4C	55667	hgsc.bcm.edu	37	chr9	19341045	19341045	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacttataaaggatgatgcAgaaattcatgtgcctgaaga	10	5	1	4	rs928128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:19341045A>G	ENST00000380432.2	+	16	2115	c.2082A>G	c.(2080-2082)gcA>gcG	p.A694A	DENND4C_ENST00000602925.1_Silent_p.A930A|DENND4C_ENST00000434457.2_Silent_p.A979A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	694					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGGATGATGCAGAAATTCATG	0.343													A|||	1071	0.213858	0.354	0.2046	5008	,	,		14125	0.0159		0.2535	False		,,,				2504	0.1943				p.A930A		Atlas-SNP	.											DENND4C,colon,carcinoma,0,1	DENND4C	120	1	0			c.A2790G						PASS	.	A		1405,3001	459.6+/-352.3	221,963,1019	86	86	86		2082	4.6	1	9	dbSNP_86	86	2030,6570	354.2+/-329.4	240,1550,2510	no	coding-synonymous	DENND4C	NM_017925.4		461,2513,3529	GG,GA,AA		23.6047,31.8883,26.4109		694/1674	19341045	3435,9571	2203	4300	6503	SO:0001819	synonymous_variant	55667	exon20			TGATGCAGAAATT	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2082A>G	9.37:g.19341045A>G		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	240	119	0.495833	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37																																																																																				A|0.760;G|0.240	0.240	strong		0.343	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		G	19341045	A	G	19341045	2	3	23	1	0	0	0	0	0	0	0	1	4435	175	7	3		3	DENND4C	9	19341045	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	563623	19341045	121872386	2274	18730										
IFNA21	3452	hgsc.bcm.edu	37	chr9	21166423	21166423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttgccatcaaactcctcCtgggggaatccaaagtcatg	10	11	2	0	rs1053884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:21166423C>T	ENST00000380225.1	-	1	236	c.189G>A	c.(187-189)caG>caA	p.Q63Q		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	63					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAACTCCTCCTGGGGGAATC	0.502													C|||	25	0.00499201	0.0151	0.0072	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.0				p.Q63Q		Atlas-SNP	.											.	IFNA21	25	.	0			c.G189A						PASS	.	C		49,4357		0,49,2154	135	136	135		189	3.1	0	9	dbSNP_86	135	7,8593		0,7,4293	no	coding-synonymous	IFNA21	NM_002175.2		0,56,6447	TT,TC,CC		0.0814,1.1121,0.4306		63/190	21166423	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	3452	exon1			CTCCTCCTGGGGG		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.189G>A	9.37:g.21166423C>T		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	232	121	0.521552	NM_002175	Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	ENST00000380225.1	37	CCDS6497.1																																																																																			C|0.996;T|0.004	0.004	strong		0.502	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		T	21166423	C	T	21166423	2	4	23	1	0	0	0	0	0	0	0	1	7538	680	24	2		2	IFNA21	9	21166423	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1825378	21166423	120047008	2275	18731										
IFNA1	3439	hgsc.bcm.edu	37	chr9	21440535	21440535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctttgctttactgatggTcctggtggtgctcagctgca	12	11	1	1	rs1758567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:21440535T>C	ENST00000276927.1	+	1	96	c.29T>C	c.(28-30)gTc>gCc	p.V10A		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	10			V -> A (in dbSNP:rs1758567). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.8, ECO:0000269|Ref.9}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TTACTGATGGTCCTGGTGGTG	0.537																																					p.V10A		Atlas-SNP	.											.	IFNA1	21	.	0			c.T29C						PASS	.						123	112	116					9																	21440535		2203	4300	6503	SO:0001583	missense	3439	exon1			TGATGGTCCTGGT		CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.29T>C	9.37:g.21440535T>C	ENSP00000276927:p.Val10Ala	Somatic	309	0	0		WXS	Illumina HiSeq	Phase_I	213	80	0.375587	NM_024013	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	112	0.05128205128205128	50	0.1016260162601626	11	0.03038674033149171	2	0.0034965034965034965	49	0.06464379947229551	C	1.442	-0.567396	0.03910	.	.	ENSG00000197919	ENST00000276927	T	0.02837	4.14	3.27	1.27	0.21489	.	0.733687	0.12514	N	0.462263	T	0.00039	0.0001	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	9	0.02654	T	1	.	3.6277	0.08119	0.1942:0.5767:0.0:0.2291	rs1758567;rs2773832;rs56880282;rs1758567	10	P01562	IFNA1_HUMAN	A	10	ENSP00000276927:V10A	ENSP00000276927:V10A	V	+	2	0	IFNA1	21430535	0.000000	0.05858	0.210000	0.23637	0.526000	0.34562	-0.714000	0.05002	-0.080000	0.12685	-0.260000	0.10688	GTC	T|0.954;C|0.046	0.046	strong		0.537	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		C	21440535	T	C	21440535	3	2	23	1	0	0	0	0	1	0	0	0	7531	1667	58	2	31	2	IFNA1	9	21440535	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	274112	21440535	119772896	2276	18732										
IFNA1	3439	hgsc.bcm.edu	37	chr9	21440916	21440916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaactcccctgatgaatgCggactccatcttggctgtga	10	11	1	4	rs2230050	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:21440916C>T	ENST00000276927.1	+	1	477	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	137			A -> V (in alpha-1B; dbSNP:rs2230050). {ECO:0000269|Ref.9}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CTGATGAATGCGGACTCCATC	0.498													c|||	118	0.0235623	0.0764	0.013	5008	,	,		18884	0.001		0.005	False		,,,				2504	0.002				p.A137V		Atlas-SNP	.											IFNA1,NS,carcinoma,-1,1	IFNA1	21	1	0			c.C410T						scavenged	.	C	VAL/ALA	264,3734		11,242,1746	17	21	19		410	0.5	0	9	dbSNP_134	19	25,8205		0,25,4090	no	missense	IFNA1	NM_024013.2	64	11,267,5836	TT,TC,CC		0.3038,6.6033,2.3634	benign	137/190	21440916	289,11939	1999	4115	6114	SO:0001583	missense	3439	exon1			TGAATGCGGACTC		CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.410C>T	9.37:g.21440916C>T	ENSP00000276927:p.Ala137Val	Somatic	714	0	0		WXS	Illumina HiSeq	Phase_I	634	176	0.277603	NM_024013	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	C	7.309	0.614657	0.14129	0.066033	0.003038	ENSG00000197919	ENST00000276927	T	0.05580	3.42	3.12	0.511	0.16989	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.388379	0.22170	N	0.063657	T	0.00271	0.0008	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.43702	-0.9375	10	0.39692	T	0.17	.	3.5529	0.07853	0.5394:0.2403:0.0:0.2203	.	137	P01562	IFNA1_HUMAN	V	137	ENSP00000276927:A137V	ENSP00000276927:A137V	A	+	2	0	IFNA1	21430916	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.127000	0.15790	-0.015000	0.14150	-0.607000	0.04081	GCG	C|0.946;T|0.054	0.054	strong		0.498	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		T	21440916	C	T	21440916	3	4	23	1	0	0	0	0	1	0	0	0	7531	768	27	1	412	1	IFNA1	9	21440916	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	381	21440916	119772515	2277	18733										
TEK	7010	hgsc.bcm.edu	37	chr9	27190655	27190655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagcttctatacaaacccGttaatcactatgaggcttgg	8	9	2	2	rs1334811	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:27190655G>A	ENST00000380036.4	+	10	1898	c.1456G>A	c.(1456-1458)Gtt>Att	p.V486I	TEK_ENST00000406359.4_Missense_Mutation_p.V443I|TEK_ENST00000519097.1_Missense_Mutation_p.V339I	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	486	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> I (in dbSNP:rs1334811). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATACAAACCCGTTAATCACTA	0.438													G|||	394	0.0786741	0.121	0.0447	5008	,	,		18526	0.0109		0.0497	False		,,,				2504	0.1452				p.V486I		Atlas-SNP	.											.	TEK	250	.	0			c.G1456A						PASS	.	G	ILE/VAL	553,3853	249.6+/-257.0	35,483,1685	110	110	110		1456	4.7	1	9	dbSNP_88	110	422,8178	130.5+/-188.4	11,400,3889	yes	missense	TEK	NM_000459.3	29	46,883,5574	AA,AG,GG		4.907,12.5511,7.4965	benign	486/1125	27190655	975,12031	2203	4300	6503	SO:0001583	missense	7010	exon10			AAACCCGTTAATC	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1456G>A	9.37:g.27190655G>A	ENSP00000369375:p.Val486Ile	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	176	84	0.477273	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	119	0.05448717948717949	66	0.13414634146341464	12	0.03314917127071823	5	0.008741258741258742	36	0.047493403693931395	G	10.66	1.413443	0.25465	0.125511	0.04907	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.73	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.585658	0.14019	N	0.346917	T	0.00468	0.0015	L	0.29908	0.895	0.21499	N	0.999661	B;P;B;B	0.35612	0.329;0.512;0.329;0.424	B;B;B;B	0.33568	0.062;0.166;0.098;0.119	T	0.00363	-1.1788	10	0.38643	T	0.18	.	13.8836	0.63696	0.0828:0.0:0.9172:0.0	rs1334811;rs61594018;rs1334811	339;519;443;486	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	I	339;486;443;443;296	ENSP00000430686:V339I;ENSP00000369375:V486I;ENSP00000383977:V443I;ENSP00000428337:V296I	ENSP00000343716:V443I	V	+	1	0	TEK	27180655	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.253000	0.51469	2.713000	0.92767	0.591000	0.81541	GTT	G|0.928;A|0.072	0.072	strong		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27190655	G	A	27190655	3	1	23	1	0	0	0	0	1	0	0	0	15748	1145	40	1	1494	1	TEK	9	27190655	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5749739	27190655	114022776	2278	18734										
C9orf72	203228	hgsc.bcm.edu	37	chr9	27556780	27556780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccggaaaggcagcacaaaGcttccagttgaatcctgtca	10	11	1	1	rs10122902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:27556780G>A	ENST00000380003.3	-	8	933	c.870C>T	c.(868-870)agC>agT	p.S290S	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	290					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCAGCACAAAGCTTCCAGTTG	0.378													G|||	1134	0.226438	0.1513	0.2781	5008	,	,		20237	0.3016		0.162	False		,,,				2504	0.2802				p.S290S		Atlas-SNP	.											.	C9orf72	48	.	0			c.C870T						PASS	.	G		843,3563	333.1+/-302.8	79,685,1439	115	110	112		870	2.5	1	9	dbSNP_119	112	1709,6891	312.7+/-311.0	178,1353,2769	no	coding-synonymous	C9orf72	NM_018325.2		257,2038,4208	AA,AG,GG		19.8721,19.133,19.6217		290/482	27556780	2552,10454	2203	4300	6503	SO:0001819	synonymous_variant	203228	exon8			CACAAAGCTTCCA	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.870C>T	9.37:g.27556780G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	125	64	0.512	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																			G|0.789;A|0.211	0.211	strong		0.378	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		A	27556780	G	A	27556780	2	1	23	1	0	0	0	0	0	0	0	1	2495	962	34	2		2	C9orf72	9	27556780	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	366125	27556780	113656651	2279	18735										
C9orf72	203228	hgsc.bcm.edu	37	chr9	27561628	27561628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcaccaatatcatcatcaTtgagtactgtatcagctatc	5	10	5	1	rs113299382|rs17769294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:27561628T>C	ENST00000380003.3	-	5	683	c.620A>G	c.(619-621)aAt>aGt	p.N207S	C9orf72_ENST00000379997.3_Missense_Mutation_p.N207S|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	207			N -> S (in dbSNP:rs17769294).		autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.N207I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATCATCATCATTGAGTACTGT	0.318													T|||	246	0.0491214	0.0189	0.0735	5008	,	,		18348	0.001		0.1083	False		,,,				2504	0.0613				p.N207S		Atlas-SNP	.											.	C9orf72	48	.	1	Substitution - Missense(1)	lung(1)	c.A620G						PASS	.	T	SER/ASN,SER/ASN	150,4256	101.6+/-140.2	0,150,2053	60	57	58		620,620	4.9	1	9	dbSNP_123	58	1085,7513	225.1+/-261.3	74,937,3288	yes	missense,missense	C9orf72	NM_018325.2,NM_145005.4	46,46	74,1087,5341	CC,CT,TT		12.6192,3.4044,9.4971	possibly-damaging,possibly-damaging	207/482,207/223	27561628	1235,11769	2203	4299	6502	SO:0001583	missense	203228	exon5			TCATCATTGAGTA	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.620A>G	9.37:g.27561628T>C	ENSP00000369339:p.Asn207Ser	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	113	0.051739926739926737	9	0.018292682926829267	24	0.06629834254143646	0	0.0	80	0.10554089709762533	T	14.66	2.602228	0.46423	0.034044	0.126192	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.42900	0.96;0.96;0.96	6.07	4.95	0.65309	.	0.042329	0.85682	D	0.000000	T	0.00384	0.0012	L	0.54323	1.7	0.09310	P	0.99999873259	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.06409	-1.0828	8	.	.	.	.	9.7079	0.40227	0.0:0.1306:0.0:0.8694	rs17769294;rs52789634;rs17769294	207;207	Q96LT7-2;Q96LT7	.;CI072_HUMAN	S	207	ENSP00000369339:N207S;ENSP00000369333:N207S;ENSP00000369331:N207S	.	N	-	2	0	C9orf72	27551628	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.986000	0.40677	2.330000	0.79161	0.477000	0.44152	AAT	T|0.919;C|0.081	0.081	strong		0.318	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		C	27561628	T	C	27561628	3	2	23	1	0	0	0	0	1	0	0	0	2495	1493	52	2	857	2	C9orf72	9	27561628	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4848	27561628	113651803	2280	18736										
DDX58	23586	hgsc.bcm.edu	37	chr9	32480251	32480251	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaagatcttgctcaatctcAtcgaatcctgctgctcggac	8	12	3	1	rs17217280	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:32480251A>T	ENST00000379883.2	-	12	1897	c.1740T>A	c.(1738-1740)gaT>gaA	p.D580E	DDX58_ENST00000379882.1_Missense_Mutation_p.D535E|DDX58_ENST00000545044.1_Missense_Mutation_p.D377E|DDX58_ENST00000542096.1_Missense_Mutation_p.D509E|DDX58_ENST00000379868.1_Missense_Mutation_p.D377E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	580	Interaction with ZC3HAV1.		D -> E (in dbSNP:rs17217280). {ECO:0000269|PubMed:11890704, ECO:0000269|Ref.1}.		cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GCTCAATCTCATCGAATCCTG	0.428													A|||	284	0.0567093	0.0068	0.1009	5008	,	,		19368	0.0129		0.1362	False		,,,				2504	0.0562				p.D580E		Atlas-SNP	.											.	DDX58	82	.	0			c.T1740A						PASS	.	A	GLU/ASP	142,4264	99.8+/-138.5	2,138,2063	154	135	141		1740	4.7	1	9	dbSNP_123	141	1268,7332	251.8+/-278.1	93,1082,3125	yes	missense	DDX58	NM_014314.3	45	95,1220,5188	TT,TA,AA		14.7442,3.2229,10.8412	possibly-damaging	580/926	32480251	1410,11596	2203	4300	6503	SO:0001583	missense	23586	exon12			AATCTCATCGAAT	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1740T>A	9.37:g.32480251A>T	ENSP00000369213:p.Asp580Glu	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	169	0.07738095238095238	6	0.012195121951219513	47	0.1298342541436464	11	0.019230769230769232	105	0.13852242744063326	A	21.6	4.172154	0.78452	0.032229	0.147442	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.67	4.67	0.58626	.	0.144833	0.46758	D	0.000261	T	0.00440	0.0014	M	0.79011	2.435	0.24770	P	0.99287946	D;P;B;P	0.55800	0.973;0.886;0.037;0.818	P;P;B;B	0.55011	0.766;0.489;0.037;0.215	T	0.12502	-1.0545	9	0.21014	T	0.42	-18.2098	13.7947	0.63164	1.0:0.0:0.0:0.0	rs17217280;rs17217280	377;535;509;580	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	E	535;580;377;509;377	ENSP00000369212:D535E;ENSP00000369213:D580E;ENSP00000369197:D377E;ENSP00000442160:D509E;ENSP00000443055:D377E	ENSP00000369197:D377E	D	-	3	2	DDX58	32470251	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.645000	0.37238	2.051000	0.60960	0.533000	0.62120	GAT	A|0.906;T|0.094	0.094	strong		0.428	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		T	32480251	A	T	32480251	3	4	23	1	0	0	0	0	1	0	0	0	4375	214	8	5	1065	5	DDX58	9	32480251	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4918623	32480251	108733180	2281	18737										
UBAP2	55833	hgsc.bcm.edu	37	chr9	33971740	33971740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagaatctgaatagtctgcAggattaaatgtcctggggtt	12	5	2	2	rs3739690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:33971740A>G	ENST00000379238.1	-	8	705	c.588T>C	c.(586-588)ccT>ccC	p.P196P	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Silent_p.P196P|UBAP2_ENST00000360802.1_Silent_p.P196P|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATAGTCTGCAGGATTAAATG	0.388													A|||	1427	0.284944	0.0923	0.2824	5008	,	,		19743	0.6101		0.2396	False		,,,				2504	0.2587				p.P196P		Atlas-SNP	.											.	UBAP2	82	.	0			c.T588C						PASS	.	A		509,3897	234.9+/-247.6	31,447,1725	86	88	87		588	4.5	1	9	dbSNP_107	87	1860,6740	329.7+/-318.9	212,1436,2652	no	coding-synonymous	UBAP2	NM_018449.2		243,1883,4377	GG,GA,AA		21.6279,11.5524,18.2147		196/1120	33971740	2369,10637	2203	4300	6503	SO:0001819	synonymous_variant	55833	exon8			GTCTGCAGGATTA	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.588T>C	9.37:g.33971740A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	102	49	0.480392	NM_018449		Silent	SNP	ENST00000379238.1	37	CCDS6547.1																																																																																			A|0.762;G|0.238	0.238	strong		0.388	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		G	33971740	A	G	33971740	2	3	23	1	0	0	0	0	0	0	0	1	16834	175	7	3		3	UBAP2	9	33971740	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1491489	33971740	107241691	2282	18738										
UBAP2	55833	hgsc.bcm.edu	37	chr9	34017106	34017106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaaatctgtggtttttccCgagcacctcgacaatggtca	9	11	2	1	rs1785506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:34017106C>T	ENST00000379238.1	-	2	158	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.R14Q|UBAP2_ENST00000360802.1_Missense_Mutation_p.R14Q|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.R14Q					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGTTTTTCCCGAGCACCTCG	0.358													C|||	3150	0.628994	0.4909	0.732	5008	,	,		16265	0.8274		0.6163	False		,,,				2504	0.5511				p.R14Q		Atlas-SNP	.											UBAP2,bladder,carcinoma,-1,2	UBAP2	82	2	0			c.G41A						PASS	.	C	GLN/ARG	2347,2059	607.4+/-390.9	621,1105,477	138	117	124		41	5.8	1	9	dbSNP_89	124	5309,3291	646.5+/-400.3	1657,1995,648	yes	missense	UBAP2	NM_018449.2	43	2278,3100,1125	TT,TC,CC		38.2674,46.7317,41.1349	possibly-damaging	14/1120	34017106	7656,5350	2203	4300	6503	SO:0001583	missense	55833	exon2			TTTTCCCGAGCAC	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.41G>A	9.37:g.34017106C>T	ENSP00000368540:p.Arg14Gln	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	145	64	0.441379	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	1406	0.6437728937728938	244	0.4959349593495935	256	0.7071823204419889	458	0.8006993006993007	448	0.5910290237467019	C	17.06	3.292071	0.59976	0.532683	0.617326	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.60455	1.87	0.09310	P	0.999999816373	D;P	0.76494	0.999;0.902	P;B	0.61477	0.889;0.195	T	0.11155	-1.0599	9	0.25751	T	0.34	-9.2197	20.1001	0.97870	0.0:1.0:0.0:0.0	rs1785506;rs3780506;rs52815908;rs61421888;rs1785506	14;14	E7EWG4;Q5T6F2	.;UBAP2_HUMAN	Q	14	ENSP00000368540:R14Q;ENSP00000416932:R14Q;ENSP00000354039:R14Q;ENSP00000404436:R14Q;ENSP00000414800:R14Q	ENSP00000259602:R14Q	R	-	2	0	UBAP2	34007106	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.341000	0.72977	2.760000	0.94817	0.655000	0.94253	CGG	C|0.374;T|0.626	0.626	strong		0.358	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		T	34017106	C	T	34017106	3	4	23	1	0	0	0	0	1	0	0	0	16834	652	23	1	3430	1	UBAP2	9	34017106	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45366	34017106	107196325	2283	18739										
DCAF12	25853	hgsc.bcm.edu	37	chr9	34107505	34107505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcacacctccaggctccCggtctttcagaatggggatc	12	13	3	1	rs11557154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:34107505C>T	ENST00000361264.4	-	3	733	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	131			R -> Q (in dbSNP:rs11557154). {ECO:0000269|PubMed:15489334}.		protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCAGGCTCCCGGTCTTTCAG	0.483													C|||	1137	0.227037	0.0106	0.2147	5008	,	,		19495	0.6012		0.1372	False		,,,				2504	0.2352				p.R131Q		Atlas-SNP	.											DCAF12,colon,carcinoma,+1,1	DCAF12	37	1	0			c.G392A						PASS	.	C	GLN/ARG	151,4255	103.8+/-142.4	3,145,2055	104	100	102		392	4.2	1	9	dbSNP_120	102	1064,7536	222.9+/-259.8	78,908,3314	yes	missense	DCAF12	NM_015397.3	43	81,1053,5369	TT,TC,CC		12.3721,3.4271,9.3418	probably-damaging	131/454	34107505	1215,11791	2203	4300	6503	SO:0001583	missense	25853	exon3			GGCTCCCGGTCTT	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.392G>A	9.37:g.34107505C>T	ENSP00000355114:p.Arg131Gln	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	176	79	0.448864	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	CCDS6549.1	532	0.24358974358974358	10	0.02032520325203252	76	0.20994475138121546	335	0.5856643356643356	111	0.14643799472295516	C	22.7	4.325631	0.81580	0.034271	0.123721	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.30182	1.54;1.54;1.54	5.07	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.58101	1.795	0.20489	P	0.999890017	D	0.64830	0.994	P	0.47376	0.545	T	0.46735	-0.9170	9	0.31617	T	0.26	-22.0702	11.837	0.52330	0.0:0.9192:0.0:0.0808	rs11557154;rs17855881;rs11557154	131	Q5T6F0	DCA12_HUMAN	Q	131;113;110	ENSP00000355114:R131Q;ENSP00000380187:R113Q;ENSP00000415833:R110Q	ENSP00000355114:R131Q	R	-	2	0	DCAF12	34097505	1.000000	0.71417	0.976000	0.42696	0.769000	0.43574	7.287000	0.78681	1.368000	0.46115	0.655000	0.94253	CGG	C|0.846;T|0.154	0.154	strong		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		T	34107505	C	T	34107505	3	4	23	1	0	0	0	0	1	0	0	0	4263	652	23	1	997	1	DCAF12	9	34107505	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	90399	34107505	107105926	2284	18740										
KIF24	347240	hgsc.bcm.edu	37	chr9	34256347	34256347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtggctcacaactgggccCcctgtgctctctgccactag	11	15	2	0	rs10814083	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:34256347C>T	ENST00000402558.2	-	10	3282	c.3258G>A	c.(3256-3258)ggG>ggA	p.G1086G	KIF24_ENST00000345050.2_Silent_p.G952G|KIF24_ENST00000379174.3_Silent_p.G952G|KIF24_ENST00000379166.2_Silent_p.G1086G			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1086					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAACTGGGCCCCCTGTGCTCT	0.607													C|||	2204	0.440096	0.2685	0.4006	5008	,	,		20026	0.7351		0.3082	False		,,,				2504	0.5317				p.G1086G		Atlas-SNP	.											.	KIF24	64	.	0			c.G3258A						PASS	.	C		1226,3180	423.0+/-339.9	158,910,1135	44	37	39		3258	0.4	0	9	dbSNP_120	39	2936,5664	452.7+/-363.0	499,1938,1863	no	coding-synonymous	KIF24	NM_194313.2		657,2848,2998	TT,TC,CC		34.1395,27.8257,32.0006		1086/1369	34256347	4162,8844	2203	4300	6503	SO:0001819	synonymous_variant	347240	exon11			TGGGCCCCCTGTG	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3258G>A	9.37:g.34256347C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	105	52	0.495238	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	CCDS6551.2	924	0.4230769230769231	142	0.2886178861788618	139	0.3839779005524862	397	0.6940559440559441	246	0.3245382585751979	C	2.713	-0.268302	0.05716	0.278257	0.341395	ENSG00000186638	ENST00000443226	.	.	.	4.81	0.37	0.16160	.	0.988720	0.08220	N	0.979213	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.40942	-0.9536	5	0.36615	T	0.2	.	6.452	0.21908	0.1277:0.6217:0.0:0.2506	rs10814083;rs58917175;rs10814083	.	.	.	R	132	.	ENSP00000414628:G132R	G	-	1	0	KIF24	34246347	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.091000	0.11146	-0.012000	0.14223	-1.119000	0.02030	GGG	C|0.626;T|0.374	0.374	strong		0.607	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			T	34256347	C	T	34256347	2	4	23	1	0	0	0	0	0	0	0	1	8292	610	22	2		2	KIF24	9	34256347	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	148842	34256347	106957084	2285	18741										
ARID3C	138715	hgsc.bcm.edu	37	chr9	34622389	34622389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaaactggggggcatgcAaggtcgaggtgggtccatag	18	7	0	0	rs3808869	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:34622389A>C	ENST00000378909.2	-	5	1095	c.1003T>G	c.(1003-1005)Tgc>Ggc	p.C335G	DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	335	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.		C -> G (in dbSNP:rs3808869).		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGGGGCATGCAAGGTCGAGGT	0.627													C|||	3017	0.602436	0.7723	0.598	5008	,	,		16667	0.4802		0.4692	False		,,,				2504	0.6391				p.C335G		Atlas-SNP	.											.	ARID3C	33	.	0			c.T1003G						PASS	.	C	GLY/CYS	3203,1203	415.9+/-337.4	1171,861,171	45	47	46		1003	0.3	0	9	dbSNP_107	46	4398,4202	567.4+/-388.8	1127,2144,1029	yes	missense	ARID3C	NM_001017363.1	159	2298,3005,1200	CC,CA,AA		48.8605,27.3037,41.5577	benign	335/413	34622389	7601,5405	2203	4300	6503	SO:0001583	missense	138715	exon5			GCATGCAAGGTCG		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1003T>G	9.37:g.34622389A>C	ENSP00000368189:p.Cys335Gly	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_001017363		Missense_Mutation	SNP	ENST00000378909.2	37	CCDS35006.1	1233	0.5645604395604396	369	0.75	206	0.569060773480663	294	0.513986013986014	364	0.48021108179419525	C	0.022	-1.413812	0.01145	0.726963	0.511395	ENSG00000205143	ENST00000378909	T	0.38401	1.14	4.61	0.293	0.15742	REKLES domain (1);	0.347888	0.21170	N	0.078986	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	9	0.09084	T	0.74	0.5687	4.0924	0.09975	0.2786:0.4597:0.0:0.2617	rs3808869;rs52800005;rs58670080;rs3808869	335	A6NKF2	ARI3C_HUMAN	G	335	ENSP00000368189:C335G	ENSP00000368189:C335G	C	-	1	0	ARID3C	34612389	0.000000	0.05858	0.003000	0.11579	0.980000	0.70556	-0.178000	0.09782	-0.044000	0.13491	-0.232000	0.12228	TGC	A|0.428;C|0.572	0.572	strong		0.627	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		C	34622389	A	C	34622389	3	2	23	1	0	0	0	0	1	0	0	0	918	130	5	5	246	5	ARID3C	9	34622389	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	366042	34622389	106591042	2286	18742										
CCL27	10850	hgsc.bcm.edu	37	chr9	34661945	34661945	+	Frame_Shift_Del	DEL	C	C	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggctattgggggcttcagCccattttccttagcatccca							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:34661945delC	ENST00000259631.4	-	3	393	c.335delG	c.(334-336)ggcfs	p.G112fs	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	112					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGGGCTTCAGCCCATTTTCCT	0.448																																					p.G112fs		Pindel,Atlas-Indel	.											.	CCL27	6	.	0			c.336delC						PASS	.						88	97	94					9																	34661945		2203	4300	6503	SO:0001589	frameshift_variant	10850	exon3			.	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.335delG	9.37:g.34661945delC	ENSP00000259631:p.Gly112fs	Somatic	122	.	.		WXS	Illumina HiSeq	Phase_I	107	32	0.299	NM_006664		Frame_Shift_Del	DEL	ENST00000259631.4	37	CCDS6569.1																																																																																			.	.	none		0.448	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		-	34661945	C	-	34661945	7	5	23	1	0	1	0	1	0	0	0	0	2899	739	26	0	7	0	CCL27	9	34661945	Frame_Shift_Del	DEL	C	TCGA-GR-7353-01A-11D-2210-10	39556	34661945	106551486	2287	18743										
CCDC107	203260	hgsc.bcm.edu	37	chr9	35660990	35660990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaaggaggacgaggaggagAttggtgacagtcaggcctgg	18	5	1	2	rs1339374	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:35660990A>G	ENST00000426546.2	+	5	724	c.658A>G	c.(658-660)Att>Gtt	p.I220V	ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.I193V|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378406.1_3'UTR|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	220			I -> V (in dbSNP:rs1339374). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGGAGGAGATTGGTGACAG	0.552													G|||	4073	0.813299	0.5968	0.8703	5008	,	,		20167	0.9782		0.8181	False		,,,				2504	0.8906				p.I220V		Atlas-SNP	.											.	CCDC107	12	.	0			c.A658G						PASS	.	G	VAL/ILE,,,,VAL/ILE	2784,1622	495.0+/-363.1	903,978,322	89	88	88		577,,,,658	1.2	0.4	9	dbSNP_88	88	6870,1730	313.7+/-311.4	2729,1412,159	yes	missense,utr-3,utr-3,utr-3,missense	C9orf100,CCDC107	NM_001195200.1,NM_001195201.1,NM_001195217.1,NM_032818.2,NM_174923.2	29,,,,29	3632,2390,481	GG,GA,AA		20.1163,36.8134,25.7727	benign,,,,benign	193/257,,,,220/284	35660990	9654,3352	2203	4300	6503	SO:0001583	missense	203260	exon5			GAGGAGATTGGTG	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.658A>G	9.37:g.35660990A>G	ENSP00000414964:p.Ile220Val	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	111	109	0.981982	NM_174923	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	CCDS6583.1	1809	0.8282967032967034	317	0.6443089430894309	308	0.850828729281768	566	0.9895104895104895	618	0.8153034300791556	G	0.008	-1.863490	0.00552	0.631866	0.798837	ENSG00000159884	ENST00000426546;ENST00000378409	T;T	0.30448	1.95;1.53	5.08	1.22	0.21188	.	0.730594	0.12230	N	0.487558	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40232	-0.9574	9	0.02654	T	1	1.2077	7.7533	0.28909	0.4372:0.0:0.5628:0.0	rs1339374;rs17856574;rs52795236;rs59175010;rs1339374	193;220	F8W8S5;Q8WV48	.;CC107_HUMAN	V	220;193	ENSP00000414964:I220V;ENSP00000367665:I193V	ENSP00000367665:I193V	I	+	1	0	CCDC107	35650990	0.069000	0.21087	0.364000	0.25888	0.018000	0.09664	-0.106000	0.10890	-0.128000	0.11641	-1.201000	0.01664	ATT	A|0.226;G|0.774	0.774	strong		0.552	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		G	35660990	A	G	35660990	3	3	23	1	0	0	0	0	1	0	0	0	2742	333	12	2	676	2	CCDC107	9	35660990	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	999045	35660990	105552441	2288	18744										
C9orf100	84904	hgsc.bcm.edu	37	chr9	35662251	35662251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acataagcagtagcttctcaTgagggaaggacagctagaga	12	7	1	2	rs2297879	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:35662251T>C	ENST00000378387.3	-	8	1034	c.917A>G	c.(916-918)cAt>cGt	p.H306R	ARHGEF39_ENST00000343259.3_Silent_p.S186S|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.H270R|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	306	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		H -> R (in dbSNP:rs2297879).		positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TAGCTTCTCATGAGGGAAGGA	0.527													T|||	1531	0.305711	0.0628	0.3545	5008	,	,		20777	0.503		0.325	False		,,,				2504	0.3763				p.H306R		Atlas-SNP	.											.	.	.	.	0			c.A917G						PASS	.	T	ARG/HIS	531,3875	240.9+/-251.5	36,459,1708	112	98	103		917	2.4	0.2	9	dbSNP_100	103	2729,5871	436.5+/-358.3	426,1877,1997	yes	missense	C9orf100	NM_032818.2	29	462,2336,3705	CC,CT,TT		31.7326,12.0517,25.0654	benign	306/336	35662251	3260,9746	2203	4300	6503	SO:0001583	missense	84904	exon8			TTCTCATGAGGGA	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.917A>G	9.37:g.35662251T>C	ENSP00000367638:p.His306Arg	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	131	59	0.450382	NM_032818	Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	CCDS6584.2	724	0.3315018315018315	49	0.09959349593495935	136	0.3756906077348066	285	0.4982517482517482	254	0.33509234828496043	T	5.983	0.365374	0.11352	0.120517	0.317326	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.41065	1.01;1.01	5.97	2.39	0.29439	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.34399	P	0.304968	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	8	0.13853	T	0.58	-7.3161	7.5244	0.27647	0.0:0.2434:0.0:0.7566	rs2297879;rs58265228;rs2297879	306	Q8N4T4	CI100_HUMAN	R	306;270	ENSP00000367638:H306R;ENSP00000367648:H270R	ENSP00000367638:H306R	H	-	2	0	C9orf100	35652251	0.163000	0.22920	0.163000	0.22734	0.974000	0.67602	0.418000	0.21230	0.169000	0.19679	-0.250000	0.11733	CAT	T|0.720;C|0.280	0.280	strong		0.527	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		C	35662251	T	C	35662251	3	2	23	1	0	0	0	0	1	0	0	0	2444	1464	51	2	98	2	C9orf100	9	35662251	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1261	35662251	105551180	2289	18745										
TLN1	7094	hgsc.bcm.edu	37	chr9	35705759	35705759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaactcaccatctcctgaacGgtcactgcaatggccttggc	8	14	3	1	rs11541908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:35705759G>A	ENST00000314888.9	-	42	5954	c.5601C>T	c.(5599-5601)acC>acT	p.T1867T	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.T1801T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1867	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCTGAACGGTCACTGCAA	0.522													G|||	847	0.169129	0.0197	0.2305	5008	,	,		21120	0.253		0.2515	False		,,,				2504	0.1564				p.T1867T		Atlas-SNP	.											.	TLN1	185	.	0			c.C5601T						PASS	.	G		265,4141	150.3+/-184.3	14,237,1952	105	104	104		5601	-4.3	1	9	dbSNP_120	104	2295,6305	386.7+/-342.0	293,1709,2298	no	coding-synonymous	TLN1	NM_006289.3		307,1946,4250	AA,AG,GG		26.686,6.0145,19.6832		1867/2542	35705759	2560,10446	2203	4300	6503	SO:0001819	synonymous_variant	7094	exon42			CTGAACGGTCACT	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5601C>T	9.37:g.35705759G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	39	0.619048	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			G|0.806;A|0.194	0.194	strong		0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35705759	G	A	35705759	2	1	23	1	0	0	0	0	0	0	0	1	15944	1103	39	1		1	TLN1	9	35705759	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43508	35705759	105507672	2290	18746										
TLN1	7094	hgsc.bcm.edu	37	chr9	35712003	35712003	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccctaccgtcctcctaccGagtcactcaggagtcgcttg	8	18	2	0	rs2295795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:35712003G>A	ENST00000314888.9	-	28	4033	c.3680C>T	c.(3679-3681)tCg>tTg	p.S1227L	TLN1_ENST00000540444.1_Splice_Site_p.S1227L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1227			S -> L (in dbSNP:rs2295795). {ECO:0000269|Ref.1}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCCTACCGAGTCACTCAG	0.597													G|||	1009	0.201478	0.0197	0.268	5008	,	,		18282	0.3383		0.2704	False		,,,				2504	0.1881				p.S1227L		Atlas-SNP	.											.	TLN1	185	.	0			c.C3680T						PASS	.	G	LEU/SER	280,4126	155.5+/-188.7	14,252,1937	54	49	51		3680	4.9	1	9	dbSNP_100	51	2408,6192	398.5+/-346.1	332,1744,2224	yes	missense-near-splice	TLN1	NM_006289.3	145	346,1996,4161	AA,AG,GG		28.0,6.355,20.6674	benign	1227/2542	35712003	2688,10318	2203	4300	6503	SO:0001630	splice_region_variant	7094	exon28			CCTACCGAGTCAC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3681+1C>T	9.37:g.35712003G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	521	0.23855311355311357	12	0.024390243902439025	100	0.27624309392265195	213	0.3723776223776224	196	0.25857519788918204	G	16.00	2.999336	0.54147	0.06355	0.28	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.12147	2.71;2.71	5.82	4.92	0.64577	.	0.356696	0.30492	N	0.009506	T	0.00012	0.0000	L	0.54323	1.7	0.20403	P	0.9999095468	B	0.09022	0.002	B	0.04013	0.001	T	0.46978	-0.9152	9	0.32370	T	0.25	-0.5518	16.3893	0.83528	0.0:0.0:0.8673:0.1327	rs2295795;rs17260374;rs60567288;rs2295795	1227	Q9Y490	TLN1_HUMAN	L	1227	ENSP00000316029:S1227L;ENSP00000442981:S1227L	ENSP00000316029:S1227L	S	-	2	0	TLN1	35702003	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.695000	0.84257	1.466000	0.48025	-0.169000	0.13324	TCG	G|0.785;A|0.215	0.215	strong		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation	A	35712003	G	A	35712003	5	1	23	1	0	0	0	0	0	0	1	0	15944	1072	37	1	4065	1	TLN1	9	35712003	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6244	35712003	105501428	2291	18747										
HRCT1	646962	hgsc.bcm.edu	37	chr9	35906624	35906624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgccaccatccccgccacGctcgctgaggctgctgtcgc	10	20	0	1	rs75458097	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:35906624G>A	ENST00000354323.2	+	1	436	c.340G>A	c.(340-342)Gct>Act	p.A114T	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	114						integral component of membrane (GO:0016021)		p.A114T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						tccccgccacGCTCGCTGAGG	0.667													G|||	286	0.0571086	0.0008	0.0548	5008	,	,		8078	0.1111		0.0358	False		,,,				2504	0.1012				p.A114T		Atlas-SNP	.											HRCT1,NS,haematopoietic_neoplasm,0,1	HRCT1	14	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G340A						scavenged	.	G	THR/ALA	21,3127		1,19,1554	7	8	8		340	2.3	0	9	dbSNP_132	8	208,5972		5,198,2887	no	missense	HRCT1	NM_001039792.1	58	6,217,4441	AA,AG,GG		3.3657,0.6671,2.455	possibly-damaging	114/116	35906624	229,9099	1574	3090	4664	SO:0001583	missense	646962	exon1			CGCCACGCTCGCT		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.340G>A	9.37:g.35906624G>A	ENSP00000346283:p.Ala114Thr	Somatic	57	1	0.0175439		WXS	Illumina HiSeq	Phase_I	40	15	0.375	NM_001039792	B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	CCDS35012.1	98	0.04487179487179487	5	0.01016260162601626	9	0.024861878453038673	60	0.1048951048951049	24	0.0316622691292876	G	10.94	1.492037	0.26774	0.006671	0.033657	ENSG00000196196	ENST00000354323	.	.	.	3.29	2.29	0.28610	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	P	0.40144	0.704	B	0.24848	0.056	T	0.13522	-1.0506	8	0.87932	D	0	-27.8878	5.6265	0.17485	0.1741:0.0:0.8259:0.0	.	114	Q6UXD1	HRCT1_HUMAN	T	114	.	ENSP00000346283:A114T	A	+	1	0	HRCT1	35896624	0.006000	0.16342	0.003000	0.11579	0.309000	0.27889	0.849000	0.27723	0.848000	0.35191	0.563000	0.77884	GCT	G|0.954;A|0.046	0.046	strong		0.667	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		A	35906624	G	A	35906624	3	1	23	1	0	0	0	0	1	0	0	0	7353	1087	38	1	342	1	HRCT1	9	35906624	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	194621	35906624	105306807	2292	18748										
TOMM5	401505	hgsc.bcm.edu	37	chr9	37592452	37592452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagaaagttccgtatggaGgagatcacatcctcgcgcat	11	9	1	2	rs7021977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:37592452G>A	ENST00000321301.6	-	1	187	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RP11-613M10.8_ENST00000537239.2_Silent_p.S5S|TOMM5_ENST00000377773.5_Silent_p.S26S|TOMM5_ENST00000401811.3_Silent_p.S26S|RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000544379.1_Silent_p.S26S	NM_001001790.2	NP_001001790.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											TCCGTATGGAGGAGATCACAT	0.612													G|||	714	0.142572	0.3124	0.1268	5008	,	,		17367	0.001		0.1581	False		,,,				2504	0.0542				p.S26S		Atlas-SNP	.											.	TOMM5	3	.	0			c.C78T						PASS	.	G	,,	1220,2892		180,860,1016	61	68	66		78,78,78	-0.7	1	9	dbSNP_116	66	1266,7130		100,1066,3032	no	coding-synonymous,coding-synonymous,coding-synonymous	TOMM5	NM_001001790.2,NM_001134484.1,NM_001134485.1	,,	280,1926,4048	AA,AG,GG		15.0786,29.6693,19.8753	,,	26/52,26/93,26/86	37592452	2486,10022	2056	4198	6254	SO:0001819	synonymous_variant	401505	exon1			TATGGAGGAGATC	BC029423	CCDS43803.1, CCDS47967.1, CCDS47968.1	9p13.2	2008-08-21	2008-08-21	2008-08-21	ENSG00000175768	ENSG00000175768			31369	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 105"	C9orf105		18331822	Standard	NM_001001790		Approved	bA613M10.3	uc011lql.2	Q8N4H5	OTTHUMG00000019923	ENST00000321301.6:c.78C>T	9.37:g.37592452G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	127	57	0.448819	NM_001134485	B2DG07|F6S928|Q5JRT7	Silent	SNP	ENST00000321301.6	37	CCDS43803.1																																																																																			G|0.834;A|0.166	0.166	strong		0.612	TOMM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052468.2			A	37592452	G	A	37592452	2	1	23	1	0	0	0	0	0	0	0	1	16357	987	35	2		2	TOMM5	9	37592452	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1685828	37592452	103620979	2293	18749										
FRMPD1	22844	hgsc.bcm.edu	37	chr9	37733752	37733752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatttctgctgcccagctacGtttaaattatctacagatcc	5	11	2	1	rs140800271	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:37733752G>A	ENST00000539465.1	+	12	1741	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R383H|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R205H|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R252H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	383	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		GCCCAGCTACGTTTAAATTAT	0.343													G|||	16	0.00319489	0.0015	0.0101	5008	,	,		20643	0.0		0.007	False		,,,				2504	0.0				p.R383H		Atlas-SNP	.											.	FRMPD1	237	.	0			c.G1148A						PASS	.	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	143	146	145		1148	5.2	1	9	dbSNP_134	145	29,8571	21.0+/-64.5	0,29,4271	yes	missense	FRMPD1	NM_014907.2	29	0,33,6470	AA,AG,GG		0.3372,0.0908,0.2537	probably-damaging	383/1579	37733752	33,12973	2203	4300	6503	SO:0001583	missense	22844	exon12			AGCTACGTTTAAA	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.1148G>A	9.37:g.37733752G>A	ENSP00000444411:p.Arg383His	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	126	64	0.507937	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	11	0.005036630036630037	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	5	0.006596306068601583	G	25.5	4.643088	0.87859	9.08E-4	0.003372	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.64687	0.923;0.928	D	0.84554	0.0646	10	0.66056	D	0.02	-11.2075	16.1394	0.81513	0.0:0.0:1.0:0.0	.	252;383	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	H	383;383;205;252	ENSP00000366995:R383H;ENSP00000444411:R383H;ENSP00000437762:R205H;ENSP00000444804:R252H	ENSP00000366995:R383H	R	+	2	0	FRMPD1	37723752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.626000	0.83164	2.400000	0.81607	0.609000	0.83330	CGT	G|0.997;A|0.003	0.003	strong		0.343	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		A	37733752	G	A	37733752	3	1	23	1	0	0	0	0	1	0	0	0	6057	1145	40	1	1190	1	FRMPD1	9	37733752	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	141300	37733752	103479679	2294	18750										
TJP2	9414	hgsc.bcm.edu	37	chr9	71841018	71841018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaagaggaaaactacagctAgtggtgttgagagacagcca	12	7	1	3	rs17062695	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:71841018A>G	ENST00000377245.4	+	7	1345	c.1137A>G	c.(1135-1137)ctA>ctG	p.L379L	TJP2_ENST00000535702.1_Silent_p.L383L|TJP2_ENST00000539225.1_Silent_p.L410L|TJP2_ENST00000348208.4_Silent_p.L379L|TJP2_ENST00000265384.7_Silent_p.L379L|TJP2_ENST00000453658.2_Silent_p.L356L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	379	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AACTACAGCTAGTGGTGTTGA	0.408													A|||	558	0.111422	0.1596	0.1066	5008	,	,		18995	0.1151		0.0616	False		,,,				2504	0.0971				p.L410L		Atlas-SNP	.											.	TJP2	120	.	0			c.A1230G						PASS	.	A	,,,,,	623,3783	272.8+/-271.0	39,545,1619	73	71	72		1068,1149,1230,1137,1137,1137	-12.1	0.2	9	dbSNP_123	72	522,8078	147.4+/-202.8	13,496,3791	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	,,,,,	52,1041,5410	GG,GA,AA		6.0698,14.1398,8.8036	,,,,,	356/1021,383/1158,410/1222,379/994,379/1191,379/1044	71841018	1145,11861	2203	4300	6503	SO:0001819	synonymous_variant	9414	exon7			ACAGCTAGTGGTG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1137A>G	9.37:g.71841018A>G		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	265	126	0.475472	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	CCDS6627.1																																																																																			A|0.907;G|0.093	0.093	strong		0.408	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71841018	A	G	71841018	2	3	23	1	0	0	0	0	0	0	0	1	15927	407	15	3		3	TJP2	9	71841018	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	34107266	71841018	69372413	2295	18751										
TJP2	9414	hgsc.bcm.edu	37	chr9	71851969	71851969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctggggtgaagaagaaccTgaggaaaagtcgggaagacc	16	6	1	5			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:71851969T>C	ENST00000377245.4	+	14	2304	c.2096T>C	c.(2095-2097)cTg>cCg	p.L699P	TJP2_ENST00000535702.1_Missense_Mutation_p.L703P|TJP2_ENST00000539225.1_Missense_Mutation_p.L730P|TJP2_ENST00000348208.4_Missense_Mutation_p.L699P|TJP2_ENST00000265384.7_Missense_Mutation_p.L699P|TJP2_ENST00000453658.2_Missense_Mutation_p.L676P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	699	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAGAAGAACCTGAGGAAAAGT	0.532																																					p.L730P		Atlas-SNP	.											.	TJP2	120	.	0			c.T2189C						PASS	.						155	165	162					9																	71851969		2203	4300	6503	SO:0001583	missense	9414	exon14			AGAACCTGAGGAA	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2096T>C	9.37:g.71851969T>C	ENSP00000366453:p.Leu699Pro	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	148	68	0.459459	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152156	0.57259	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.12361	2.72;2.69;2.72;2.71;2.7;2.74	5.77	5.77	0.91146	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.374098	0.27927	N	0.017282	T	0.36853	0.0982	M	0.82056	2.57	0.58432	D	0.999998	P;P;D;D;D	0.67145	0.853;0.919;0.963;0.996;0.995	P;P;P;D;D	0.68943	0.502;0.888;0.679;0.95;0.961	T	0.19386	-1.0307	10	0.87932	D	0	.	10.6932	0.45884	0.0:0.0712:0.0:0.9288	.	730;703;699;699;699	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	P	676;699;699;699;703;730	ENSP00000392178:L676P;ENSP00000366453:L699P;ENSP00000345893:L699P;ENSP00000265384:L699P;ENSP00000442090:L703P;ENSP00000438262:L730P	ENSP00000265384:L699P	L	+	2	0	TJP2	71041789	0.994000	0.37717	0.014000	0.15608	0.620000	0.37586	6.251000	0.72441	2.330000	0.79161	0.528000	0.53228	CTG	.	.	none		0.532	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		C	71851969	T	C	71851969	3	2	23	1	0	0	0	0	1	0	0	0	15927	1580	55	3	2307	3	TJP2	9	71851969	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10951	71851969	69361462	2296	18752										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77376647	77376647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgagtattcttctttttctTtgacagtctcctgtctttgg	7	8	5	2	rs2274924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77376647T>C	ENST00000360774.1	-	27	4987	c.4750A>G	c.(4750-4752)Aag>Gag	p.K1584E	TRPM6_ENST00000376864.4_Missense_Mutation_p.K1584E|TRPM6_ENST00000361255.3_Missense_Mutation_p.K1579E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.K1579E|TRPM6_ENST00000451710.3_Missense_Mutation_p.K1584E|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1584			K -> E (in dbSNP:rs2274924). {ECO:0000269|PubMed:17344846}.		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)	p.K1584E(1)		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						TTCTTTTTCTTTGACAGTCTC	0.428													T|||	1477	0.294928	0.4463	0.147	5008	,	,		18536	0.3155		0.1571	False		,,,				2504	0.316				p.K1584E		Atlas-SNP	.											TRPM6,caecum,carcinoma,+2,2	TRPM6	377	2	1	Substitution - Missense(1)	stomach(1)	c.A4750G						PASS	.	T	GLU/LYS,GLU/LYS,GLU/LYS	1727,2679	519.0+/-369.9	333,1061,809	204	177	186		4735,4735,4750	4.6	0.6	9	dbSNP_100	186	1335,7265	261.9+/-284.1	91,1153,3056	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	56,56,56	424,2214,3865	CC,CT,TT		15.5233,39.1966,23.543	benign,benign,benign	1579/2018,1579/2018,1584/2023	77376647	3062,9944	2203	4300	6503	SO:0001583	missense	140803	exon27			TTTTCTTTGACAG	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.4750A>G	9.37:g.77376647T>C	ENSP00000354006:p.Lys1584Glu	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	261	127	0.48659	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	544	0.2490842490842491	190	0.3861788617886179	46	0.1270718232044199	182	0.3181818181818182	126	0.1662269129287599	T	16.64	3.179714	0.57800	0.391966	0.155233	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.56444	0.55;0.55;0.56;0.55;0.46	5.77	4.64	0.57946	.	0.437410	0.27039	N	0.021226	T	0.00012	0.0000	L	0.59436	1.845	0.34496	P	0.294519	P;P;P	0.42692	0.682;0.675;0.787	B;B;P	0.46758	0.326;0.426;0.526	T	0.36187	-0.9758	9	0.62326	D	0.03	.	10.7405	0.46149	0.0:0.0749:0.0:0.9251	rs2274924;rs61238454;rs2274924	1584;1579;1579	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	E	1584;1584;1579;1579;1584	ENSP00000354006:K1584E;ENSP00000407341:K1584E;ENSP00000396672:K1579E;ENSP00000354962:K1579E;ENSP00000366060:K1584E	ENSP00000354006:K1584E	K	-	1	0	TRPM6	76566467	0.888000	0.30383	0.558000	0.28319	0.405000	0.30901	1.602000	0.36783	1.131000	0.42111	0.528000	0.53228	AAG	T|0.756;C|0.244	0.244	strong		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		C	77376647	T	C	77376647	3	2	23	1	0	0	0	0	1	0	0	0	16587	1850	64	2	1370	2	TRPM6	9	77376647	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5524678	77376647	63836784	2297	18753										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77377410	77377410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatgcccagtcagagacaaCtggggtctgcccagtcagat	12	11	3	3	rs3750425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77377410C>T	ENST00000360774.1	-	26	4414	c.4177G>A	c.(4177-4179)Gtt>Att	p.V1393I	TRPM6_ENST00000376864.4_Missense_Mutation_p.V1393I|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1388I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1388I|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1393I|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1393			V -> I (in dbSNP:rs3750425). {ECO:0000269|PubMed:17344846}.		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						TCAGAGACAACTGGGGTCTGC	0.527													c|||	883	0.176318	0.2958	0.0879	5008	,	,		19160	0.1548		0.0785	False		,,,				2504	0.2004				p.V1393I		Atlas-SNP	.											.	TRPM6	377	.	0			c.G4177A						PASS	.	T	ILE/VAL,ILE/VAL,ILE/VAL	1138,3268	405.1+/-333.4	166,806,1231	93	86	89		4162,4162,4177	0.4	0	9	dbSNP_107	89	732,7868	177.9+/-227.4	30,672,3598	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	29,29,29	196,1478,4829	TT,TC,CC		8.5116,25.8284,14.378	benign,benign,benign	1388/2018,1388/2018,1393/2023	77377410	1870,11136	2203	4300	6503	SO:0001583	missense	140803	exon26			AGACAACTGGGGT	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.4177G>A	9.37:g.77377410C>T	ENSP00000354006:p.Val1393Ile	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	98	41	0.418367	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	303	0.13873626373626374	119	0.241869918699187	30	0.08287292817679558	89	0.1555944055944056	65	0.08575197889182058	c	8.299	0.819541	0.16607	0.258284	0.085116	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55052	0.64;0.64;0.64;0.64;0.54	5.68	0.442	0.16582	.	2.390330	0.01144	N	0.006262	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B;B	0.30973	0.029;0.302;0.05	B;B;B	0.27500	0.016;0.08;0.037	T	0.06516	-1.0822	9	0.09843	T	0.71	.	1.2411	0.01963	0.2303:0.4003:0.1124:0.257	rs3750425;rs52794331;rs56518046;rs59790880;rs3750425	1393;1388;1388	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1393;1393;1388;1388;1393;1056;1056	ENSP00000354006:V1393I;ENSP00000407341:V1393I;ENSP00000396672:V1388I;ENSP00000354962:V1388I;ENSP00000366060:V1393I	ENSP00000309693:V1056I	V	-	1	0	TRPM6	76567230	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.484000	0.06528	0.080000	0.16959	-1.618000	0.00794	GTT	C|0.855;T|0.145	0.145	strong		0.527	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77377410	C	T	77377410	3	4	23	1	0	0	0	0	1	0	0	0	16587	565	20	2	1947	2	TRPM6	9	77377410	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	763	77377410	63836021	2298	18754										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77415284	77415284	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcccgacacggccagtttAaggcaggtcgaattgctcca	10	14	0	0	rs7859201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77415284A>C	ENST00000360774.1	-	17	2361	c.2124T>G	c.(2122-2124)ctT>ctG	p.L708L	TRPM6_ENST00000376864.4_Silent_p.L708L|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Silent_p.L703L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.L703L|TRPM6_ENST00000451710.3_Silent_p.L708L|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	708			L -> P (in HOMG1; loss of function; no effect on cell membrane localization). {ECO:0000269|PubMed:23942199}.		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						CGGCCAGTTTAAGGCAGGTCG	0.498													C|||	2308	0.460863	0.7436	0.3415	5008	,	,		18117	0.3482		0.3728	False		,,,				2504	0.3701				p.L708L		Atlas-SNP	.											.	TRPM6	377	.	0			c.T2124G						PASS	.	C	,,	2924,1482	475.3+/-357.3	973,978,252	130	106	114		2109,2109,2124	3.2	0.8	9	dbSNP_116	114	3264,5336	648.3+/-400.5	607,2050,1643	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	1580,3028,1895	CC,CA,AA		37.9535,33.636,47.578	,,	703/2018,703/2018,708/2023	77415284	6188,6818	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon17			CAGTTTAAGGCAG	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.2124T>G	9.37:g.77415284A>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			A|0.532;C|0.468	0.468	strong		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		C	77415284	A	C	77415284	2	2	23	1	0	0	0	0	0	0	0	1	16587	349	13	5		5	TRPM6	9	77415284	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	37874	77415284	63798147	2299	18755										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77416972	77416972	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatcttctgccttttcatCagcacagcccaaaccagcag	6	16	4	0	rs11144089	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77416972C>T	ENST00000360774.1	-	16	2088	c.1851G>A	c.(1849-1851)ctG>ctA	p.L617L	TRPM6_ENST00000376864.4_Silent_p.L617L|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Silent_p.L612L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.L612L|TRPM6_ENST00000451710.3_Silent_p.L617L|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	617					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						GCCTTTTCATCAGCACAGCCC	0.473													C|||	447	0.0892572	0.025	0.1066	5008	,	,		18275	0.1558		0.1074	False		,,,				2504	0.0767				p.L617L		Atlas-SNP	.											.	TRPM6	377	.	0			c.G1851A						PASS	.	C	,,	170,4236	111.2+/-149.4	4,162,2037	124	98	107		1836,1836,1851	-4.8	1	9	dbSNP_120	107	798,7802	187.0+/-234.4	36,726,3538	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	40,888,5575	TT,TC,CC		9.2791,3.8584,7.4427	,,	612/2018,612/2018,617/2023	77416972	968,12038	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon16			TTTCATCAGCACA	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.1851G>A	9.37:g.77416972C>T		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	154	63	0.409091	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			C|0.911;T|0.089	0.089	strong		0.473	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77416972	C	T	77416972	2	4	23	1	0	0	0	0	0	0	0	1	16587	813	29	2		2	TRPM6	9	77416972	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1688	77416972	63796459	2300	18756										
TRPM6	140803	hgsc.bcm.edu	37	chr9	77436641	77436641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtcagccgccctacctgtGccctcacacaccaccactgg	8	19	2	0	rs7018994	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77436641G>A	ENST00000360774.1	-	8	1191	c.954C>T	c.(952-954)ggC>ggT	p.G318G	TRPM6_ENST00000376864.4_Silent_p.G318G|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.G313G|TRPM6_ENST00000376872.3_Silent_p.G318G|TRPM6_ENST00000449912.2_Silent_p.G313G|TRPM6_ENST00000451710.3_Silent_p.G318G|TRPM6_ENST00000376871.3_Silent_p.G318G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	318					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						CCCTACCTGTGCCCTCACACA	0.572													G|||	1797	0.358826	0.0673	0.4438	5008	,	,		17635	0.5536		0.3787	False		,,,				2504	0.4714				p.G318G		Atlas-SNP	.											.	TRPM6	377	.	0			c.C954T						PASS	.	G	,,	512,3894	234.6+/-247.4	26,460,1717	143	105	118		939,939,954	4.6	1	9	dbSNP_116	118	3043,5557	467.6+/-367.1	549,1945,1806	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	575,2405,3523	AA,AG,GG		35.3837,11.6205,27.3335	,,	313/2018,313/2018,318/2023	77436641	3555,9451	2203	4300	6503	SO:0001819	synonymous_variant	140803	exon8			ACCTGTGCCCTCA	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.954C>T	9.37:g.77436641G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	89	42	0.47191	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			G|0.701;A|0.299	0.299	strong		0.572	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77436641	G	A	77436641	2	1	23	1	0	0	0	0	0	0	0	1	16587	1306	46	2		2	TRPM6	9	77436641	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19669	77436641	63776790	2301	18757										
C9orf40	55071	hgsc.bcm.edu	37	chr9	77563087	77563087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaaaggattcctccagtaCtggaaggtattatactgcca	10	9	0	0	rs2769058	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:77563087C>T	ENST00000376854.5	-	2	736	c.462G>A	c.(460-462)caG>caA	p.Q154Q		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	154								p.Q154Q(1)		lung(2)|stomach(1)	3						TCCTCCAGTACTGGAAGGTAT	0.383													C|||	1619	0.323283	0.2398	0.3458	5008	,	,		16486	0.3988		0.3429	False		,,,				2504	0.3221				p.Q154Q		Atlas-SNP	.											C9orf40,NS,carcinoma,0,1	C9orf40	5	1	1	Substitution - coding silent(1)	stomach(1)	c.G462A						PASS	.	C		1158,3248	410.4+/-335.4	156,846,1201	106	99	102		462	6	1	9	dbSNP_100	102	2773,5827	439.5+/-359.2	444,1885,1971	no	coding-synonymous	C9orf40	NM_017998.2		600,2731,3172	TT,TC,CC		32.2442,26.2823,30.2245		154/195	77563087	3931,9075	2203	4300	6503	SO:0001819	synonymous_variant	55071	exon2			CCAGTACTGGAAG	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.462G>A	9.37:g.77563087C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	124	61	0.491935	NM_017998	Q9NWD3	Silent	SNP	ENST00000376854.5	37	CCDS6648.1																																																																																			C|0.688;T|0.312	0.312	strong		0.383	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		T	77563087	C	T	77563087	2	4	23	1	0	0	0	0	0	0	0	1	2481	564	20	2		2	C9orf40	9	77563087	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126446	77563087	63650344	2302	18758										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79891006	79891006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcgagttttatcaccttgTtggagattgtgaactatctg	10	6	2	2	rs78048112	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:79891006T>C	ENST00000360280.3	+	26	2953	c.2693T>C	c.(2692-2694)gTt>gCt	p.V898A	VPS13A_ENST00000376636.3_Missense_Mutation_p.V898A|VPS13A_ENST00000376634.4_Missense_Mutation_p.V898A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V898A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	898			V -> A (in dbSNP:rs78048112). {ECO:0000269|PubMed:12404112}.		cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCACCTTGTTGGAGATTGT	0.328													T|||	58	0.0115815	0.003	0.0173	5008	,	,		14148	0.0		0.0298	False		,,,				2504	0.0123				p.V898A		Atlas-SNP	.											.	VPS13A	735	.	0			c.T2693C						PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	34,4370	38.4+/-70.7	0,34,2168	104	104	104		2693,2693,2693,2693	3.5	1	9	dbSNP_131	104	268,8332	103.3+/-164.5	3,262,4035	yes	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	64,64,64,64	3,296,6203	CC,CT,TT		3.1163,0.772,2.3224	benign,benign,benign,benign	898/3136,898/3070,898/3096,898/3175	79891006	302,12702	2202	4300	6502	SO:0001583	missense	23230	exon26			ACCTTGTTGGAGA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2693T>C	9.37:g.79891006T>C	ENSP00000353422:p.Val898Ala	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	23	0.010531135531135532	4	0.008130081300813009	3	0.008287292817679558	0	0.0	16	0.021108179419525065	T	7.155	0.584540	0.13749	0.00772	0.031163	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.82	3.46	0.39613	.	0.526409	0.18933	N	0.127162	T	0.03739	0.0106	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.24132	0.004;0.059;0.098;0.098	B;B;B;B	0.26969	0.012;0.034;0.075;0.075	T	0.09443	-1.0674	10	0.08179	T	0.78	.	3.0912	0.06295	0.3329:0.1342:0.0:0.5329	.	898;898;898;898	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	898	ENSP00000365821:V898A;ENSP00000365823:V898A;ENSP00000353422:V898A;ENSP00000349985:V898A	ENSP00000349985:V898A	V	+	2	0	VPS13A	79080826	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	0.929000	0.28844	0.994000	0.38892	0.460000	0.39030	GTT	T|0.980;C|0.020	0.020	strong		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79891006	T	C	79891006	3	2	23	1	0	0	0	0	1	0	0	0	17186	1725	60	2	2795	2	VPS13A	9	79891006	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2327919	79891006	61322425	2303	18759										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79897117	79897117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcttcataatatccttccGcaatcagaggaaaaatcagc	5	10	4	1	rs11145366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:79897117G>A	ENST00000360280.3	+	29	3305	c.3045G>A	c.(3043-3045)ccG>ccA	p.P1015P	VPS13A_ENST00000376636.3_Silent_p.P1015P|VPS13A_ENST00000376634.4_Silent_p.P1015P|VPS13A_ENST00000357409.5_Silent_p.P1015P|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1015					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATATCCTTCCGCAATCAGAGG	0.318													G|||	420	0.0838658	0.1165	0.0677	5008	,	,		13503	0.0327		0.1213	False		,,,				2504	0.0654				p.P1015P		Atlas-SNP	.											VPS13A_ENST00000376634,NS,carcinoma,+1,3	VPS13A	735	3	0			c.G3045A						PASS	.	G	,,,	507,3899	226.5+/-242.0	23,461,1719	58	63	61		3045,3045,3045,3045	-0.3	0.4	9	dbSNP_120	61	956,7642	209.0+/-250.3	58,840,3401	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	81,1301,5120	AA,AG,GG		11.1189,11.507,11.2504	,,,	1015/3136,1015/3070,1015/3096,1015/3175	79897117	1463,11541	2203	4299	6502	SO:0001819	synonymous_variant	23230	exon29			CCTTCCGCAATCA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3045G>A	9.37:g.79897117G>A		Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	155	153	0.987097	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																			G|0.898;A|0.102	0.102	strong		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		A	79897117	G	A	79897117	2	1	23	1	0	0	0	0	0	0	0	1	17186	1074	38	1		1	VPS13A	9	79897117	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6111	79897117	61316314	2304	18760										
VPS13A	23230	hgsc.bcm.edu	37	chr9	79954545	79954545	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgactatctcaatcacgaTtggaaaagtgaatatcacat	6	8	3	2	rs7025532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:79954545T>C	ENST00000360280.3	+	48	6752	c.6492T>C	c.(6490-6492)gaT>gaC	p.D2164D	VPS13A_ENST00000376636.3_Silent_p.D2125D|VPS13A_ENST00000376634.4_Silent_p.D2164D|VPS13A_ENST00000357409.5_Silent_p.D2164D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2164					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAATCACGATTGGAAAAGTG	0.358													T|||	815	0.16274	0.2307	0.1239	5008	,	,		16733	0.0337		0.1958	False		,,,				2504	0.1973				p.D2164D		Atlas-SNP	.											.	VPS13A	735	.	0			c.T6492C						PASS	.	T	,,,	988,3418	368.1+/-318.5	111,766,1326	79	67	71		6375,6492,6492,6492	-0.5	1	9	dbSNP_116	71	1727,6873	312.6+/-310.9	175,1377,2748	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	286,2143,4074	CC,CT,TT		20.0814,22.424,20.875	,,,	2125/3136,2164/3070,2164/3096,2164/3175	79954545	2715,10291	2203	4300	6503	SO:0001819	synonymous_variant	23230	exon48			TCACGATTGGAAA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6492T>C	9.37:g.79954545T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	107	105	0.981308	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																			T|0.818;C|0.182	0.182	strong		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79954545	T	C	79954545	2	2	23	1	0	0	0	0	0	0	0	1	17186	1490	52	2		2	VPS13A	9	79954545	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	57428	79954545	61258886	2305	18761										
GNA14	9630	hgsc.bcm.edu	37	chr9	80040566	80040566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaagaataaaatcacagaCgaattcagaaaccaggggta	8	7	3	3	rs1801259	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:80040566C>T	ENST00000341700.6	-	6	1302	c.789G>A	c.(787-789)tcG>tcA	p.S263S	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AAATCACAGACGAATTCAGAA	0.373													c|||	426	0.0850639	0.1172	0.0677	5008	,	,		20020	0.0308		0.1233	False		,,,				2504	0.0706				p.S263S		Atlas-SNP	.											.	GNA14	50	.	0			c.G789A						PASS	.	T		499,3907	229.8+/-244.2	23,453,1727	111	116	114		789	-4.2	0.9	9	dbSNP_89	114	956,7644	210.1+/-251.1	58,840,3402	no	coding-synonymous	GNA14	NM_004297.3		81,1293,5129	TT,TC,CC		11.1163,11.3255,11.1871		263/356	80040566	1455,11551	2203	4300	6503	SO:0001819	synonymous_variant	9630	exon6			CACAGACGAATTC	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.789G>A	9.37:g.80040566C>T		Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	126	121	0.960317	NM_004297	B1ALW3	Silent	SNP	ENST00000341700.6	37	CCDS6657.1																																																																																			C|0.894;T|0.106	0.106	strong		0.373	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			T	80040566	C	T	80040566	2	4	23	1	0	0	0	0	0	0	0	1	6502	523	19	1		1	GNA14	9	80040566	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	86021	80040566	61172865	2306	18762										
KIF27	55582	hgsc.bcm.edu	37	chr9	86504005	86504005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatatttaacatacctagttCcagatttctcttggccttct	4	10	2	1	rs13289566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:86504005C>T	ENST00000297814.2	-	7	2116	c.1973G>A	c.(1972-1974)gGa>gAa	p.G658E	KIF27_ENST00000376347.1_Missense_Mutation_p.G49E|KIF27_ENST00000334204.2_Missense_Mutation_p.G658E|KIF27_ENST00000413982.1_Missense_Mutation_p.G658E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	658					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATACCTAGTTCCAGATTTCTC	0.328													C|||	875	0.17472	0.2451	0.1657	5008	,	,		17277	0.002		0.2336	False		,,,				2504	0.2035				p.G658E		Atlas-SNP	.											.	KIF27	103	.	0			c.G1973A						PASS	.	C	GLU/GLY	1101,3303	368.1+/-318.5	137,827,1238	52	51	51		1973	0.4	0.7	9	dbSNP_121	51	1869,6725	310.1+/-309.7	191,1487,2619	no	missense	KIF27	NM_017576.1	98	328,2314,3857	TT,TC,CC		21.7477,25.0,22.8497	benign	658/1402	86504005	2970,10028	2202	4297	6499	SO:0001583	missense	55582	exon7			CTAGTTCCAGATT	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1973G>A	9.37:g.86504005C>T	ENSP00000297814:p.Gly658Glu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	137	69	0.50365	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	346	0.15842490842490842	110	0.22357723577235772	62	0.1712707182320442	0	0.0	174	0.22955145118733508	C	7.059	0.565938	0.13560	0.25	0.217477	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.95	0.394	0.16299	.	1.657160	0.04144	N	0.320083	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16571	-1.0398	9	0.02654	T	1	.	1.4027	0.02274	0.1283:0.2012:0.2611:0.4094	rs13289566;rs57559061	658;658;658	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	E	658;658;658;49	ENSP00000297814:G658E;ENSP00000401688:G658E;ENSP00000333928:G658E;ENSP00000365525:G49E	ENSP00000297814:G658E	G	-	2	0	KIF27	85693825	0.638000	0.27225	0.703000	0.30354	0.951000	0.60555	0.075000	0.14686	0.094000	0.17404	0.557000	0.71058	GGA	C|0.798;T|0.202	0.202	strong		0.328	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		T	86504005	C	T	86504005	3	4	23	1	0	0	0	0	1	0	0	0	8296	855	30	2	2280	2	KIF27	9	86504005	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6463439	86504005	54709426	2307	18763										
SLC28A3	64078	hgsc.bcm.edu	37	chr9	86900926	86900926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgaattcataaaagacaGcagggccaggaaggcaatca	12	8	2	2	rs7853758	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:86900926G>A	ENST00000376238.4	-	13	1430	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L392L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	461					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATAAAAGACAGCAGGGCCAGG	0.498													G|||	1015	0.202676	0.3396	0.2334	5008	,	,		18484	0.1558		0.1372	False		,,,				2504	0.1115				p.L461L	Ovarian(106;425 1539 34835 42413 43572)	Atlas-SNP	.											.	SLC28A3	72	.	0			c.C1381T						PASS	.	G	,	1284,3122	438.6+/-345.4	197,890,1116	92	83	86		1381,1381	-4.1	1	9	dbSNP_116	86	1248,7352	249.4+/-276.7	93,1062,3145	no	coding-synonymous,coding-synonymous	SLC28A3	NM_001199633.1,NM_022127.2	,	290,1952,4261	AA,AG,GG		14.5116,29.1421,19.4679	,	461/692,461/692	86900926	2532,10474	2203	4300	6503	SO:0001819	synonymous_variant	64078	exon13			AAGACAGCAGGGC	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1381C>T	9.37:g.86900926G>A		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	122	54	0.442623	NM_001199633	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																			G|0.802;A|0.198	0.198	strong		0.498	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		A	86900926	G	A	86900926	2	1	23	1	0	0	0	0	0	0	0	1	14533	962	34	2		2	SLC28A3	9	86900926	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	396921	86900926	54312505	2308	18764										
ZCCHC6	79670	hgsc.bcm.edu	37	chr9	88937852	88937854	+	In_Frame_Del	DEL	TTT	TTT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagactgatccacaggtgaaTttttttcttcacatacattt					rs58050565|rs77621374|rs200402481|rs397759922	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:88937852_88937854delTTT	ENST00000375963.3	-	13	2983_2985	c.2811_2813delAAA	c.(2809-2814)aaaaat>aat	p.K937del	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_In_Frame_Del_p.K937del|ZCCHC6_ENST00000277141.6_In_Frame_Del_p.K226del|ZCCHC6_ENST00000375960.2_In_Frame_Del_p.K814del	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	937				Missing (in Ref. 1; CAI45944/CAH56219). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.N938delN(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CACAGGTGAATTTTTTTCTTCAC	0.345														2624	0.523962	0.562	0.4899	5008	,	,		19309	0.4792		0.5417	False		,,,				2504	0.5245				p.938_938del		Pindel	.											.	ZCCHC6	105	.	1	Deletion - In frame(1)	large_intestine(1)	c.2812_2814del						PASS	.		,,	2377,1887		665,1047,420					,,	4.1	1		dbSNP_129	62	4461,3793		1183,2095,849	no	coding,coding,coding	ZCCHC6	NM_024617.3,NM_001185074.1,NM_001185059.1	,,	1848,3142,1269	A1A1,A1R,RR		45.9535,44.2542,45.3747	,,	,,		6838,5680				SO:0001651	inframe_deletion	79670	exon13			.	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2811_2813delAAA	9.37:g.88937855_88937857delTTT	ENSP00000365130:p.Lys937del	Somatic	227	.	.		WXS	Illumina HiSeq	Phase_I	244	75	0.307	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	In_Frame_Del	DEL	ENST00000375963.3	37	CCDS35057.1																																																																																			.	.	weak		0.345	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		-	88937854	TTT	-	88937852	7	5	23	1	0	1	0	1	0	0	0	0	17589	1493	52	0	1734	0	ZCCHC6	9	88937852	In_Frame_Del	DEL	TTT	TCGA-GR-7353-01A-11D-2210-10	2036926	88937852	52275579	2309	18765										
ZCCHC6	79670	hgsc.bcm.edu	37	chr9	88959938	88959938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgatacgtttaatttcCagcctctgttccaagttctc	5	12	2	1	rs791323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:88959938C>T	ENST00000375963.3	-	5	1123	c.951G>A	c.(949-951)ctG>ctA	p.L317L	ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000375961.2_Silent_p.L317L|ZCCHC6_ENST00000375947.1_Silent_p.L150L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Silent_p.L317L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	317					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTTTAATTTCCAGCCTCTGTT	0.383													T|||	3102	0.619409	0.8253	0.5288	5008	,	,		19149	0.5308		0.5447	False		,,,				2504	0.5736				p.L317L		Atlas-SNP	.											ZCCHC6,colon,carcinoma,0,1	ZCCHC6	105	1	0			c.G951A						PASS	.	T	,,	3447,959	362.6+/-316.2	1346,755,102	143	130	134		951,951,951	2.7	1	9	dbSNP_86	134	4670,3930	548.2+/-385.3	1249,2172,879	no	coding-synonymous,coding-synonymous,coding-synonymous	ZCCHC6	NM_001185059.1,NM_001185074.1,NM_024617.3	,,	2595,2927,981	TT,TC,CC		45.6977,21.7658,37.5903	,,	317/1496,317/1260,317/1496	88959938	8117,4889	2203	4300	6503	SO:0001819	synonymous_variant	79670	exon5			AATTTCCAGCCTC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.951G>A	9.37:g.88959938C>T		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	213	105	0.492958	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																			C|0.379;N|0.000	.	strong		0.383	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		T	88959938	C	T	88959938	2	4	23	1	0	0	0	0	0	0	0	1	17589	581	21	2		2	ZCCHC6	9	88959938	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	22086	88959938	52253493	2310	18766										
DAPK1	1612	hgsc.bcm.edu	37	chr9	90265015	90265015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggccgaacatggagccgaCcttaatgcttgcgacaaggt	12	11	0	0	rs3818584	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:90265015C>T	ENST00000408954.3	+	16	1943	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	DAPK1_ENST00000469640.2_Silent_p.D536D|DAPK1_ENST00000491893.1_Silent_p.D536D|DAPK1_ENST00000358077.5_Silent_p.D536D|DAPK1_ENST00000472284.1_Silent_p.D536D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	536					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATGGAGCCGACCTTAATGCTT	0.552									Chronic Lymphocytic Leukemia, Familial Clustering of				C|||	1773	0.354034	0.1241	0.5432	5008	,	,		16292	0.5784		0.3748	False		,,,				2504	0.2781				p.D536D		Atlas-SNP	.											DAPK1_ENST00000408954,NS,carcinoma,0,4	DAPK1	329	4	0			c.C1608T						PASS	.	C		603,3323		46,511,1406	50	50	50		1608	1.6	0.9	9	dbSNP_107	50	3141,5141		587,1967,1587	no	coding-synonymous	DAPK1	NM_004938.2		633,2478,2993	TT,TC,CC		37.9256,15.3591,30.6684		536/1431	90265015	3744,8464	1963	4141	6104	SO:0001819	synonymous_variant	1612	exon16	Familial Cancer Database	Familial CLL	AGCCGACCTTAAT	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1608C>T	9.37:g.90265015C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	46	21	0.456522	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																			C|0.634;T|0.365	0.365	strong		0.552	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90265015	C	T	90265015	2	4	23	1	0	0	0	0	0	0	0	1	4235	506	18	2		2	DAPK1	9	90265015	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1305077	90265015	50948416	2311	18767										
DAPK1	1612	hgsc.bcm.edu	37	chr9	90283514	90283514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcatttttctccaacaggaCggaaagacggcagaagatct	10	9	2	3	rs3750538	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:90283514C>T	ENST00000408954.3	+	19	2261	c.1926C>T	c.(1924-1926)gaC>gaT	p.D642D	DAPK1_ENST00000469640.2_Silent_p.D642D|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000491893.1_Silent_p.D642D|DAPK1_ENST00000358077.5_Silent_p.D642D|DAPK1_ENST00000472284.1_Silent_p.D642D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	642					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCCAACAGGACGGAAAGACGG	0.468									Chronic Lymphocytic Leukemia, Familial Clustering of				T|||	242	0.0483227	0.0303	0.0447	5008	,	,		23138	0.0873		0.0606	False		,,,				2504	0.0225				p.D642D		Atlas-SNP	.											.	DAPK1	329	.	0			c.C1926T						PASS	.	T		120,3788		2,116,1836	237	240	239		1926	3.6	1	9	dbSNP_107	239	397,7899		10,377,3761	no	coding-synonymous	DAPK1	NM_004938.2		12,493,5597	TT,TC,CC		4.7854,3.0706,4.2363		642/1431	90283514	517,11687	1954	4148	6102	SO:0001819	synonymous_variant	1612	exon19	Familial Cancer Database	Familial CLL	ACAGGACGGAAAG	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1926C>T	9.37:g.90283514C>T		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	76	45	0.592105	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																			C|0.938;T|0.062	0.062	strong		0.468	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90283514	C	T	90283514	2	4	23	1	0	0	0	0	0	0	0	1	4235	535	19	1		1	DAPK1	9	90283514	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18499	90283514	50929917	2312	18768										
DAPK1	1612	hgsc.bcm.edu	37	chr9	90322238	90322238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcctcgagctgcaacagcGgcacctcttacaattccatt	7	14	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:90322238G>A	ENST00000408954.3	+	26	4587	c.4252G>A	c.(4252-4254)Ggc>Agc	p.G1418S	DAPK1_ENST00000469640.2_Missense_Mutation_p.G1443S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1352S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1418S|DAPK1_ENST00000472284.1_Missense_Mutation_p.G1418S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1418					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTGCAACAGCGGCACCTCTTA	0.557									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.G1418S		Atlas-SNP	.											DAPK1_ENST00000408954,colon,carcinoma,0,2	DAPK1	329	2	0			c.G4252A						scavenged	.						37	40	39					9																	90322238		1949	4144	6093	SO:0001583	missense	1612	exon26	Familial Cancer Database	Familial CLL	AACAGCGGCACCT	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4252G>A	9.37:g.90322238G>A	ENSP00000386135:p.Gly1418Ser	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	178	4	0.0224719	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603292	0.87157	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.76060	-0.77;-0.77;-0.91;-0.77;-0.99	5.94	5.94	0.96194	.	0.000000	0.52532	D	0.000063	T	0.77805	0.4185	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	P;D;D	0.66497	0.883;0.944;0.912	T	0.72590	-0.4247	10	0.21014	T	0.42	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	1352;1418;1418	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	S	1418;1418;1443;1418;1352	ENSP00000350785:G1418S;ENSP00000417076:G1418S;ENSP00000418885:G1443S;ENSP00000386135:G1418S;ENSP00000419026:G1352S	ENSP00000350785:G1418S	G	+	1	0	DAPK1	89512058	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	9.845000	0.99498	2.816000	0.96949	0.563000	0.77884	GGC	.	.	none		0.557	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		A	90322238	G	A	90322238	3	1	23	1	0	0	0	0	1	0	0	0	4235	1116	39	1	4350	1	DAPK1	9	90322238	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	38724	90322238	50891193	2313	18769										
SYK	6850	hgsc.bcm.edu	37	chr9	93637015	93637015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagagcccctacgcggacccCgaggagatcaggcccaagga	14	14	1	2	rs2290890	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:93637015C>T	ENST00000375754.4	+	9	1213	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	SYK_ENST00000375747.1_Silent_p.P332P|SYK_ENST00000375746.1_Silent_p.P355P|SYK_ENST00000375751.4_Silent_p.P332P	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	355	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACGCGGACCCCGAGGAGATCA	0.562			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								C|||	981	0.195887	0.2088	0.366	5008	,	,		17794	0.2321		0.1362	False		,,,				2504	0.0818				p.P355P		Atlas-SNP	.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK	132	.	0			c.C1065T						PASS	.	C	,,,	918,3488	352.6+/-311.8	90,738,1375	145	159	154		996,1065,996,1065	-8.3	0.4	9	dbSNP_100	154	1216,7384	245.4+/-274.3	88,1040,3172	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	178,1778,4547	TT,TC,CC		14.1395,20.8352,16.4078	,,,	332/613,355/636,332/613,355/636	93637015	2134,10872	2203	4300	6503	SO:0001819	synonymous_variant	6850	exon9			GGACCCCGAGGAG	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1065C>T	9.37:g.93637015C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	96	39	0.40625	NM_003177		Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																			C|0.825;T|0.175	0.175	strong		0.562	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			T	93637015	C	T	93637015	2	4	23	1	0	0	0	0	0	0	0	1	15435	639	23	1		1	SYK	9	93637015	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3314777	93637015	47576416	2314	18770										
SYK	6850	hgsc.bcm.edu	37	chr9	93641175	93641175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctagttacccaacattaCgccaagatcagtgatttcgg	8	10	1	2	rs2306041	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:93641175C>T	ENST00000375754.4	+	11	1669	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	SYK_ENST00000375747.1_Silent_p.Y484Y|SYK_ENST00000375746.1_Silent_p.Y507Y|SYK_ENST00000375751.4_Silent_p.Y484Y	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCCAACATTACGCCAAGATCA	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								C|||	993	0.198283	0.2179	0.366	5008	,	,		20099	0.2321		0.1362	False		,,,				2504	0.0818				p.Y507Y		Atlas-SNP	.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK	132	.	0			c.C1521T						PASS	.	C	,,,	968,3438	365.4+/-317.4	102,764,1337	181	158	166		1452,1521,1452,1521	-3.4	1	9	dbSNP_100	166	1215,7385	245.3+/-274.2	88,1039,3173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	190,1803,4510	TT,TC,CC		14.1279,21.97,16.7846	,,,	484/613,507/636,484/613,507/636	93641175	2183,10823	2203	4300	6503	SO:0001819	synonymous_variant	6850	exon11			ACATTACGCCAAG	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1521C>T	9.37:g.93641175C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	176	89	0.505682	NM_003177		Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																			C|0.822;T|0.178	0.178	strong		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			T	93641175	C	T	93641175	2	4	23	1	0	0	0	0	0	0	0	1	15435	547	19	1		1	SYK	9	93641175	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4160	93641175	47572256	2315	18771										
IARS	3376	hgsc.bcm.edu	37	chr9	94985637	94985637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcacataccttgtggctTtgcattcaggagctgtaggt	13	8	1	0	rs556155	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:94985637T>C	ENST00000375643.3	-	32	3810	c.3544A>G	c.(3544-3546)Aag>Gag	p.K1182E	IARS_ENST00000375629.3_3'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.K1182E|IARS_ENST00000447699.2_Missense_Mutation_p.K1072E	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1182			K -> E (in dbSNP:rs556155). {ECO:0000269|PubMed:17974005}.		gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.K1182Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCTTGTGGCTTTGCATTCAGG	0.453													C|||	804	0.160543	0.0537	0.1988	5008	,	,		18188	0.121		0.1461	False		,,,				2504	0.3333				p.K1182E		Atlas-SNP	.											IARS,rectum,carcinoma,0,1	IARS	74	1	1	Substitution - Missense(1)	large_intestine(1)	c.A3544G						PASS	.	C	GLU/LYS,GLU/LYS	321,4085	797.7+/-415.4	12,297,1894	112	104	107		3544,3544	2.6	0.2	9	dbSNP_83	107	1391,7209	754.2+/-407.5	105,1181,3014	yes	missense,missense	IARS	NM_002161.4,NM_013417.2	56,56	117,1478,4908	CC,CT,TT		16.1744,7.2855,13.1632	benign,benign	1182/1263,1182/1263	94985637	1712,11294	2203	4300	6503	SO:0001583	missense	3376	exon32			GTGGCTTTGCATT	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3544A>G	9.37:g.94985637T>C	ENSP00000364794:p.Lys1182Glu	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	153	85	0.555556	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	269	0.12316849816849818	23	0.046747967479674794	63	0.17403314917127072	69	0.12062937062937062	114	0.1503957783641161	C	2.687	-0.274075	0.05679	0.072855	0.161744	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189	T;T;T	0.43688	0.94;0.94;0.94	5.86	2.58	0.30949	.	0.608943	0.19546	N	0.111689	T	0.00039	0.0001	N	0.02802	-0.49	0.53688	P	2.2999999999995246E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.23511	-1.0186	9	0.06625	T	0.88	-1.4842	6.5975	0.22683	0.0:0.5393:0.0:0.4607	rs556155;rs2070054;rs2230406;rs59750466;rs556155	692;1182;975	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	E	1182;1182;191;1072;1182;191	ENSP00000364794:K1182E;ENSP00000406448:K1182E;ENSP00000415020:K1072E	ENSP00000364794:K1182E	K	-	1	0	IARS	94025458	0.997000	0.39634	0.173000	0.22940	0.714000	0.41099	0.383000	0.20651	0.499000	0.27970	-0.128000	0.14901	AAG	A|0.007;C|0.130	0.130	strong		0.453	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		C	94985637	T	C	94985637	3	2	23	1	0	0	0	0	1	0	0	0	7473	1850	64	2	256	2	IARS	9	94985637	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1344462	94985637	46227794	2316	18772										
NOL8	55035	hgsc.bcm.edu	37	chr9	95076771	95076771	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgtgaggccgcttgaatcAgaccgctcttcctgtgaagc	12	11	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:95076771A>C	ENST00000535387.1	-	6	2135	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	NOL8_ENST00000358855.4_Silent_p.S644S|NOL8_ENST00000542053.1_Silent_p.S644S|NOL8_ENST00000442668.2_Silent_p.S712S|NOL8_ENST00000545558.1_Silent_p.S712S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCTTGAATCAGACCGCTCTT	0.428																																					p.S712S		Atlas-SNP	.											.	NOL8	118	.	0			c.T2136G						PASS	.						57	51	53					9																	95076771		1899	4115	6014	SO:0001819	synonymous_variant	55035	exon7			TGAATCAGACCGC	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2136T>G	9.37:g.95076771A>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	90	24	0.266667	NM_017948		Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																			.	.	none		0.428	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95076771	A	C	95076771	2	2	23	1	0	0	0	0	0	0	0	1	10527	175	7	5		5	NOL8	9	95076771	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	91134	95076771	46136660	2317	18773										
IPPK	64768	hgsc.bcm.edu	37	chr9	95405048	95405048	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttaccctgagtagagatcAaggggacagtatttgctgat	11	7	2	3	rs35248147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:95405048A>C	ENST00000287996.3	-	7	825	c.549T>G	c.(547-549)ctT>ctG	p.L183L		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	183					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AGTAGAGATCAAGGGGACAGT	0.557													A|||	148	0.0295527	0.0159	0.0331	5008	,	,		20982	0.001		0.0437	False		,,,				2504	0.0603				p.L183L		Atlas-SNP	.											.	IPPK	34	.	0			c.T549G						PASS	.	A		112,4294	86.8+/-125.4	2,108,2093	194	145	162		549	-9	0.8	9	dbSNP_126	162	419,8181	129.3+/-187.4	10,399,3891	no	coding-synonymous	IPPK	NM_022755.5		12,507,5984	CC,CA,AA		4.8721,2.542,4.0827		183/492	95405048	531,12475	2203	4300	6503	SO:0001819	synonymous_variant	64768	exon7			GAGATCAAGGGGA	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.549T>G	9.37:g.95405048A>C		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	140	68	0.485714	NM_022755	Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	CCDS6699.1																																																																																			A|0.966;C|0.034	0.034	strong		0.557	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		C	95405048	A	C	95405048	2	2	23	1	0	0	0	0	0	0	0	1	7801	117	5	5		5	IPPK	9	95405048	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	328277	95405048	45808383	2318	18774										
PHF2	5253	hgsc.bcm.edu	37	chr9	96407983	96407983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaggagcacggcttcacCgagcccatcctcgtccctaa	10	15	1	0	rs9695734	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:96407983C>T	ENST00000359246.4	+	4	739	c.372C>T	c.(370-372)acC>acT	p.T124T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	124					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACGGCTTCACCGAGCCCATCC	0.622													C|||	530	0.105831	0.1241	0.0764	5008	,	,		20102	0.0506		0.161	False		,,,				2504	0.1022				p.T124T		Atlas-SNP	.											PHF2,NS,carcinoma,0,1	PHF2	113	1	0			c.C372T						PASS	.	C		536,3870	244.3+/-253.7	28,480,1695	81	75	77		372	-9.2	0.2	9	dbSNP_119	77	1498,7102	284.7+/-296.8	119,1260,2921	yes	coding-synonymous	PHF2	NM_005392.3		147,1740,4616	TT,TC,CC		17.4186,12.1652,15.6389		124/1097	96407983	2034,10972	2203	4300	6503	SO:0001819	synonymous_variant	5253	exon4			CTTCACCGAGCCC	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.372C>T	9.37:g.96407983C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																			C|0.853;T|0.147	0.147	strong		0.622	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		T	96407983	C	T	96407983	2	4	23	1	0	0	0	0	0	0	0	1	11830	639	23	1		1	PHF2	9	96407983	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1002935	96407983	44805448	2319	18775										
PTCH1	5727	hgsc.bcm.edu	37	chr9	98221978	98221978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggcagcatacgcgacggGgtcgttgctgacccaagccg	16	12	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:98221978G>T	ENST00000331920.6	-	17	3090	c.2791C>A	c.(2791-2793)Ccc>Acc	p.P931T	PTCH1_ENST00000437951.1_Missense_Mutation_p.P865T|PTCH1_ENST00000429896.2_Missense_Mutation_p.P780T|PTCH1_ENST00000421141.1_Missense_Mutation_p.P780T|PTCH1_ENST00000418258.1_Missense_Mutation_p.P780T|PTCH1_ENST00000430669.2_Missense_Mutation_p.P865T|PTCH1_ENST00000375274.2_Missense_Mutation_p.P930T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	931					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P931fs*27(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACGCGACGGGGTCGTTGCTG	0.542																																					p.P931T		Atlas-SNP	.											PTCH1_ENST00000430669,NS,lymphoid_neoplasm,+2,4	PTCH1	1850	4	1	Complex - frameshift(1)	skin(1)	c.C2791A						scavenged	.						121	102	108					9																	98221978		2203	4300	6503	SO:0001583	missense	5727	exon17			CGACGGGGTCGTT	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2791C>A	9.37:g.98221978G>T	ENSP00000332353:p.Pro931Thr	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	173	2	0.0115607	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952473	0.34471	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90504	-2.68;-2.67;-2.66;-2.66;-2.67;-2.66;-2.68	5.14	4.24	0.50183	.	0.106616	0.64402	D	0.000003	D	0.88540	0.6464	L	0.60455	1.87	0.80722	D	1	B;P;B	0.40230	0.328;0.708;0.213	B;B;B	0.38264	0.155;0.269;0.262	D	0.88191	0.2877	10	0.46703	T	0.11	-18.8885	15.1079	0.72334	0.0:0.0:0.8573:0.1427	.	865;930;931	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	931;865;780;780;367;865;780;930	ENSP00000332353:P931T;ENSP00000389744:P865T;ENSP00000399981:P780T;ENSP00000396135:P780T;ENSP00000410287:P865T;ENSP00000414823:P780T;ENSP00000364423:P930T	ENSP00000332353:P931T	P	-	1	0	PTCH1	97261799	1.000000	0.71417	0.804000	0.32291	0.166000	0.22503	9.263000	0.95617	1.371000	0.46172	0.563000	0.77884	CCC	.	.	none		0.542	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98221978	G	T	98221978	3	4	23	1	0	0	0	0	1	0	0	0	12730	1232	43	4	1580	4	PTCH1	9	98221978	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1813995	98221978	42991453	2320	18776										
PTCH1	5727	hgsc.bcm.edu	37	chr9	98244242	98244242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacacttacaggaggtatgcTgtcccagactgtaatttcgc	9	11	0	1	rs1805154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:98244242T>C	ENST00000331920.6	-	5	1034	c.735A>G	c.(733-735)acA>acG	p.T245T	PTCH1_ENST00000437951.1_Silent_p.T179T|PTCH1_ENST00000429896.2_Silent_p.T94T|PTCH1_ENST00000421141.1_Silent_p.T94T|PTCH1_ENST00000468211.2_Silent_p.T179T|PTCH1_ENST00000418258.1_Silent_p.T94T|PTCH1_ENST00000430669.2_Silent_p.T179T|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000375274.2_Silent_p.T244T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	245					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGAGGTATGCTGTCCCAGACT	0.388													T|||	47	0.00938498	0.0023	0.0202	5008	,	,		17942	0.0		0.0249	False		,,,				2504	0.0051				p.T245T		Atlas-SNP	.											.	PTCH1	1850	.	0			c.A735G						PASS	.	T	,,,,,,	30,4376	34.3+/-65.2	0,30,2173	84	70	75		735,537,732,282,282,282,282	-2.5	1	9	dbSNP_89	75	329,8271	115.2+/-175.0	4,321,3975	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	,,,,,,	4,351,6148	CC,CT,TT		3.8256,0.6809,2.7603	,,,,,,	245/1448,179/1382,244/1447,94/1297,94/1297,94/1297,94/1297	98244242	359,12647	2203	4300	6503	SO:0001819	synonymous_variant	5727	exon5			GTATGCTGTCCCA	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.735A>G	9.37:g.98244242T>C		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	95	45	0.473684	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																			T|0.976;C|0.024	0.024	strong		0.388	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		C	98244242	T	C	98244242	2	2	23	1	0	0	0	0	0	0	0	1	12730	1567	55	3		3	PTCH1	9	98244242	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22264	98244242	42969189	2321	18777										
C9orf102	375748	hgsc.bcm.edu	37	chr9	98691137	98691137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatgttaacatttgccttgTctctacaatgtaagaaaatt	6	6	1	2	rs2274654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:98691137T>C	ENST00000288985.7	+	11	2080	c.1775T>C	c.(1774-1776)gTc>gCc	p.V592A	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.V403A|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	592	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		V -> A (in dbSNP:rs2274654).		DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATTTGCCTTGTCTCTACAATG	0.284													T|||	1137	0.227037	0.1936	0.2637	5008	,	,		15669	0.2639		0.1332	False		,,,				2504	0.3047				p.V592A		Atlas-SNP	.											.	.	.	.	0			c.T1775C						PASS	.	T	ALA/VAL	793,3613	314.7+/-293.7	73,647,1483	97	90	93		1775	5.1	1	9	dbSNP_100	93	1316,7284	257.5+/-281.5	89,1138,3073	yes	missense	C9orf102	NM_001010895.2	64	162,1785,4556	CC,CT,TT		15.3023,17.9982,16.2156	probably-damaging	592/713	98691137	2109,10897	2203	4300	6503	SO:0001583	missense	375748	exon11			GCCTTGTCTCTAC	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1775T>C	9.37:g.98691137T>C	ENSP00000288985:p.Val592Ala	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	21	0.538462	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	439	0.20100732600732601	86	0.17479674796747968	95	0.26243093922651933	152	0.26573426573426573	106	0.13984168865435356	T	23.1	4.377977	0.82682	0.179982	0.153023	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817;ENST00000426805	T;T;T	0.81078	-1.45;-1.45;-1.45	5.09	5.09	0.68999	Helicase, C-terminal (3);	0.000000	0.47455	D	0.000234	T	0.00039	0.0001	L	0.39147	1.195	0.09310	P	1.0	D;D;D	0.76494	0.993;0.996;0.999	P;D;D	0.70487	0.84;0.946;0.969	T	0.00647	-1.1628	9	0.87932	D	0	-14.9419	15.019	0.71613	0.0:0.0:0.0:1.0	rs2274654;rs52819942;rs58407137;rs2274654	403;274;592	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	A	274;592;403;79	ENSP00000288985:V592A;ENSP00000416286:V403A;ENSP00000395345:V79A	ENSP00000288985:V592A	V	+	2	0	C9orf102	97730958	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.229000	0.78088	2.142000	0.66516	0.477000	0.44152	GTC	T|0.816;C|0.184	0.184	strong		0.284	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		C	98691137	T	C	98691137	3	2	23	1	0	0	0	0	1	0	0	0	2445	1667	58	2	1817	2	C9orf102	9	98691137	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	446895	98691137	42522294	2322	18778										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100070351	100070351	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccagcggccaagatgtcGtcagtggggaaggtgaccca	15	11	1	2	rs12683119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100070351G>C	ENST00000357054.1	+	16	1490	c.555G>C	c.(553-555)tcG>tcC	p.S185S	CCDC180_ENST00000395220.1_Silent_p.S185S|CCDC180_ENST00000411667.2_Silent_p.S46S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S46S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.S46S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	185						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAAGATGTCGTCAGTGGGGA	0.592													G|||	687	0.137181	0.0356	0.2003	5008	,	,		14826	0.0575		0.2038	False		,,,				2504	0.2434				p.S46S		Atlas-SNP	.											.	.	.	.	0			c.G138C						PASS	.	G		320,4086	170.5+/-200.9	14,292,1897	72	65	67		138	-6	0	9	dbSNP_120	67	2362,6238	393.9+/-344.5	312,1738,2250	no	coding-synonymous	C9orf174	NM_020893.2		326,2030,4147	CC,CG,GG		27.4651,7.2628,20.6213		46/1702	100070351	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			GATGTCGTCAGTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.555G>C	9.37:g.100070351G>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	104	45	0.432692	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				G|0.813;C|0.187	0.187	strong		0.592	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100070351	G	C	100070351	2	2	23	1	0	0	0	0	0	0	0	1	8240	1132	40	4		4	KIAA1529	9	100070351	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1379214	100070351	41143080	2323	18779										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100074446	100074446	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagagagtgagaacaccatCgctgcccgagaagtgcgggg	16	10	0	3	rs3747504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100074446C>T	ENST00000357054.1	+	18	1796	c.861C>T	c.(859-861)atC>atT	p.I287I	CCDC180_ENST00000395220.1_Silent_p.I287I|CCDC180_ENST00000411667.2_Silent_p.I148I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.I148I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.I148I			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	287						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I287I(1)									AGAACACCATCGCTGCCCGAG	0.567													C|||	1380	0.275559	0.2965	0.353	5008	,	,		21122	0.2907		0.1869	False		,,,				2504	0.2679				p.I148I		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.C444T						scavenged	.	C		1188,3218	416.1+/-337.4	155,878,1170	119	120	119		444	-10.4	0	9	dbSNP_107	119	1592,7008	299.0+/-304.2	146,1300,2854	no	coding-synonymous	C9orf174	NM_020893.2		301,2178,4024	TT,TC,CC		18.5116,26.9632,21.3748		148/1702	100074446	2780,10226	2203	4300	6503	SO:0001819	synonymous_variant	0	exon4			CACCATCGCTGCC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.861C>T	9.37:g.100074446C>T		Somatic	101	1	0.00990099		WXS	Illumina HiSeq	Phase_I	99	42	0.424242	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				C|0.766;T|0.234	0.234	strong		0.567	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100074446	C	T	100074446	2	4	23	1	0	0	0	0	0	0	0	1	8240	874	31	1		1	KIAA1529	9	100074446	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4095	100074446	41138985	2324	18780										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100092968	100092969	+	In_Frame_Ins	INS	-	-	GAGGAG													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaagatgagaaggaggaaINSgaggaggaggaggagaagct					rs71369506|rs9696736|rs113264216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100092968_100092969insGAGGAG	ENST00000357054.1	+	32	3677_3678	c.2742_2743insGAGGAG	c.(2743-2745)gag>GAGGAGgag	p.915_915E>EEE	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_In_Frame_Ins_p.773_773E>EEE|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_In_Frame_Ins_p.776_776E>EEE|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_In_Frame_Ins_p.776_776E>EEE			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	915	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											agaaggaggaagaggaggagga	0.5														2962	0.591454	0.7443	0.6614	5008	,	,		17231	0.5813		0.3907	False		,,,				2504	0.5521				p.E775delinsEEE		Pindel,Atlas-Indel	.											.	.	.	.	0			c.2325_2326insGAGGAG						PASS	.																																			SO:0001652	inframe_insertion	0	exon18			.	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2749_2754dupGAGGAG	9.37:g.100092969_100092974dupGAGGAG	ENSP00000349562:p.GluGlu919dup	Somatic	19	.	.		WXS	Illumina HiSeq	Phase_I	32	17	0.531	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	In_Frame_Ins	INS	ENST00000357054.1	37																																																																																				-|0.500;GAGGAG|0.500	0.500	strong		0.5	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		GAGGAG	100092969	-	GAGGAG	100092968	7	5	23	1	0	1	1	0	0	0	0	0	8240	69	3	0	2824	0	KIAA1529	9	100092968	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	18522	100092968	41120463	2325	18781										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100105735	100105735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccctggaagaagagcattgTaggaagtcccattccacctt	9	12	0	2	rs1947717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100105735T>C	ENST00000357054.1	+	33	3872	c.2937T>C	c.(2935-2937)tgT>tgC	p.C979C	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Silent_p.C837C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.C840C|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.C840C			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	979						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AAGAGCATTGTAGGAAGTCCC	0.423													C|||	2973	0.59365	0.7458	0.6628	5008	,	,		17941	0.5843		0.3936	False		,,,				2504	0.5542				p.C840C		Atlas-SNP	.											.	.	.	.	0			c.T2520C						PASS	.	C		3195,1211	420.2+/-338.9	1154,887,162	123	113	116		2520	2.3	0	9	dbSNP_92	116	3980,4620	600.2+/-394.2	912,2156,1232	no	coding-synonymous	C9orf174	NM_020893.2		2066,3043,1394	CC,CT,TT		46.2791,27.4852,44.8332		840/1702	100105735	7175,5831	2203	4300	6503	SO:0001819	synonymous_variant	0	exon19			GCATTGTAGGAAG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2937T>C	9.37:g.100105735T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	107	104	0.971963	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				T|0.445;C|0.555	0.555	strong		0.423	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100105735	T	C	100105735	2	2	23	1	0	0	0	0	0	0	0	1	8240	1644	57	2		2	KIAA1529	9	100105735	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12767	100105735	41107696	2326	18782										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100105782	100105782	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgttcatcaacgacacttCcagtgccaagttcatagaac	6	12	3	1	rs2061634	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100105782C>G	ENST00000357054.1	+	33	3919	c.2984C>G	c.(2983-2985)tCc>tGc	p.S995C	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S853C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.S856C|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.S856C			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	995			S -> C (in dbSNP:rs2061634).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AACGACACTTCCAGTGCCAAG	0.383													C|||	1394	0.278355	0.41	0.304	5008	,	,		19363	0.1835		0.1998	False		,,,				2504	0.2607				p.S856C		Atlas-SNP	.											.	.	.	.	0			c.C2567G						PASS	.	C	CYS/SER	1846,2560	537.6+/-374.8	400,1046,757	100	94	96		2567	1.9	0	9	dbSNP_94	96	2349,6251	392.1+/-343.9	320,1709,2271	yes	missense	C9orf174	NM_020893.2	112	720,2755,3028	GG,GC,CC		27.314,41.8974,32.2543	benign	856/1702	100105782	4195,8811	2203	4300	6503	SO:0001583	missense	0	exon19			ACACTTCCAGTGC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2984C>G	9.37:g.100105782C>G	ENSP00000349562:p.Ser995Cys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	80	34	0.425	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		542	0.24816849816849818	207	0.42073170731707316	88	0.2430939226519337	106	0.1853146853146853	141	0.18601583113456466	C	15.07	2.723583	0.48728	0.418974	0.27314	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.13307	2.9;2.9;2.6;2.9	5.39	1.93	0.25924	.	1.074820	0.07175	N	0.853079	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B;B	0.17038	0.02;0.012;0.02	B;B;B	0.17098	0.017;0.01;0.017	T	0.47761	-0.9092	9	0.52906	T	0.07	-0.9304	4.218	0.10544	0.0:0.5169:0.2133:0.2698	rs2061634;rs2061634	879;995;995	Q86Y65;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	C	995;856;853;879;856	ENSP00000349562:S995C;ENSP00000364348:S856C;ENSP00000414000:S853C;ENSP00000434727:S856C	ENSP00000349562:S995C	S	+	2	0	C9orf174	99145603	0.001000	0.12720	0.002000	0.10522	0.059000	0.15707	0.649000	0.24843	0.490000	0.27771	0.655000	0.94253	TCC	C|0.698;G|0.302	0.302	strong		0.383	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100105782	C	G	100105782	3	3	23	1	0	0	0	0	1	0	0	0	8240	855	30	4	3070	4	KIAA1529	9	100105782	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47	100105782	41107649	2327	18783										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100122291	100122291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagaagaactcctcagcTtcgtccaaacttggaaggaa	8	12	1	2	rs3747495	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100122291T>C	ENST00000357054.1	+	37	4371	c.3436T>C	c.(3436-3438)Ttc>Ctc	p.F1146L	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.F1175L|CCDC180_ENST00000375202.2_Missense_Mutation_p.F1175L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1146			F -> L (in dbSNP:rs3747495).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F1146L(1)									ACTCCTCAGCTTCGTCCAAAC	0.507													T|||	1159	0.23143	0.1369	0.3444	5008	,	,		21733	0.2907		0.1879	False		,,,				2504	0.2628				p.F1175L		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.T3523C						scavenged	.	T	LEU/PHE	618,3788	267.7+/-268.0	42,534,1627	166	166	166		3523	3.4	0	9	dbSNP_107	166	1588,7012	298.5+/-303.9	142,1304,2854	yes	missense	C9orf174	NM_020893.2	22	184,1838,4481	CC,CT,TT		18.4651,14.0263,16.9614	benign	1175/1702	100122291	2206,10800	2203	4300	6503	SO:0001583	missense	0	exon26			CTCAGCTTCGTCC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3436T>C	9.37:g.100122291T>C	ENSP00000349562:p.Phe1146Leu	Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	164	79	0.481707	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		508	0.2326007326007326	52	0.10569105691056911	128	0.35359116022099446	174	0.3041958041958042	154	0.20316622691292877	T	12.99	2.103262	0.37145	0.140263	0.184651	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08102	3.13;3.15;3.15	5.71	3.39	0.38822	.	0.472963	0.25919	N	0.027445	T	0.00012	0.0000	L	0.27053	0.805	0.54753	P	1.0999999999983245E-5	B;B	0.33637	0.119;0.42	B;B	0.32090	0.097;0.14	T	0.45366	-0.9266	9	0.10377	T	0.69	-2.0155	6.8103	0.23801	0.0:0.192:0.0:0.808	rs3747495;rs13302501;rs17583370;rs52794397;rs61215609;rs3747495	1314;1146	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1146;1175;1175	ENSP00000349562:F1146L;ENSP00000364348:F1175L;ENSP00000434727:F1175L	ENSP00000349562:F1146L	F	+	1	0	C9orf174	99162112	0.676000	0.27567	0.002000	0.10522	0.031000	0.12232	1.588000	0.36633	0.544000	0.28883	0.459000	0.35465	TTC	T|0.807;C|0.193	0.193	strong		0.507	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100122291	T	C	100122291	3	2	23	1	0	0	0	0	1	0	0	0	8240	1609	56	3	3538	3	KIAA1529	9	100122291	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	16509	100122291	41091140	2328	18784										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100139161	100139161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtccctgcacactatccaAggcctgtatgtgtgaccctc	8	15	0	1	rs11581	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100139161A>G	ENST00000357054.1	+	49	5861	c.4926A>G	c.(4924-4926)caA>caG	p.Q1642Q	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.Q1697Q|CCDC180_ENST00000375202.2_Silent_p.Q1697Q			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1642						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q1642Q(1)									ACACTATCCAAGGCCTGTATG	0.517													G|||	2100	0.419329	0.5726	0.4582	5008	,	,		21290	0.5248		0.1958	False		,,,				2504	0.3057				p.Q1697Q		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.A5091G						PASS	.	G		2343,2063	566.4+/-381.9	643,1057,503	127	104	112		5091	2.1	0.6	9	dbSNP_52	112	1624,6976	739.4+/-407.1	146,1332,2822	no	coding-synonymous	C9orf174	NM_020893.2		789,2389,3325	GG,GA,AA		18.8837,46.8225,30.5013		1697/1702	100139161	3967,9039	2203	4300	6503	SO:0001819	synonymous_variant	0	exon37			TATCCAAGGCCTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4926A>G	9.37:g.100139161A>G		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	24	0.461538	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				A|0.654;G|0.346	0.346	strong		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100139161	A	G	100139161	2	3	23	1	0	0	0	0	0	0	0	1	8240	69	3	3		3	KIAA1529	9	100139161	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	16870	100139161	41074270	2329	18785										
HEMGN	55363	hgsc.bcm.edu	37	chr9	100692648	100692648	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaatgaggtgtttcttgGattgttttatgagagggggc	15	3	2	3	rs35527067	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100692648G>T	ENST00000259456.3	-	4	1172	c.1029C>A	c.(1027-1029)atC>atA	p.I343I		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTGTTTCTTGGATTGTTTTAT	0.363													G|||	11	0.00219649	0.0	0.0	5008	,	,		19044	0.0		0.0099	False		,,,				2504	0.001				p.I343I		Atlas-SNP	.											.	HEMGN	55	.	0			c.C1029A						PASS	.	G	,	14,4392	21.2+/-45.6	0,14,2189	189	195	193		1029,1029	3.3	1	9	dbSNP_126	193	108,8492	57.5+/-118.9	1,106,4193	no	coding-synonymous,coding-synonymous	HEMGN	NM_018437.3,NM_197978.1	,	1,120,6382	TT,TG,GG		1.2558,0.3177,0.938	,	343/485,343/485	100692648	122,12884	2203	4300	6503	SO:0001819	synonymous_variant	55363	exon3			TTCTTGGATTGTT	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1029C>A	9.37:g.100692648G>T		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	267	119	0.445693	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Silent	SNP	ENST00000259456.3	37	CCDS6731.1																																																																																			G|0.992;T|0.008	0.008	strong		0.363	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100692648	G	T	100692648	2	4	23	1	0	0	0	0	0	0	0	1	7050	1164	41	4		4	HEMGN	9	100692648	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	553487	100692648	40520783	2330	18786										
TBC1D2	55357	hgsc.bcm.edu	37	chr9	100961704	100961704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcctcgctggcacagccctCggacacagctctgcgccggg	13	17	1	0	rs34769888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100961704C>T	ENST00000375066.5	-	13	2804	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	TBC1D2_ENST00000375063.1_Missense_Mutation_p.E456K|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E698K|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	916					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCACAGCCCTCGGACACAGCT	0.682													C|||	20	0.00399361	0.0	0.0043	5008	,	,		15710	0.0		0.006	False		,,,				2504	0.0112				p.E916K		Atlas-SNP	.											.	TBC1D2	70	.	0			c.G2746A						PASS	.	C	LYS/GLU	11,4395	16.8+/-37.8	0,11,2192	62	64	63		2713	3.5	0	9	dbSNP_126	63	80,8518	45.8+/-104.6	1,78,4220	yes	missense	TBC1D2	NM_018421.3	56	1,89,6412	TT,TC,CC		0.9304,0.2497,0.6998	benign	905/918	100961704	91,12913	2203	4299	6502	SO:0001583	missense	55357	exon13			AGCCCTCGGACAC	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2713G>A	9.37:g.100961704C>T	ENSP00000364207:p.Glu905Lys	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	135	64	0.474074	NM_001267571	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	CCDS35080.1	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	C	16.15	3.041987	0.55003	0.002497	0.009304	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08896	3.04;3.5;3.11	5.34	3.5	0.40072	.	0.512441	0.20582	N	0.089520	T	0.04907	0.0132	L	0.57536	1.79	0.09310	N	0.999999	B;B	0.33919	0.306;0.432	B;B	0.22386	0.017;0.039	T	0.33317	-0.9873	10	0.13470	T	0.59	.	9.2808	0.37727	0.0:0.8294:0.0:0.1706	rs34769888	916;905	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	K	905;698;456	ENSP00000364207:E905K;ENSP00000341567:E698K;ENSP00000364203:E456K	ENSP00000341567:E698K	E	-	1	0	TBC1D2	100001525	0.612000	0.27000	0.033000	0.17914	0.033000	0.12548	1.029000	0.30140	0.641000	0.30601	0.511000	0.50034	GAG	C|0.994;T|0.006	0.006	strong		0.682	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		T	100961704	C	T	100961704	3	4	23	1	0	0	0	0	1	0	0	0	15605	893	31	1	44	1	TBC1D2	9	100961704	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	269056	100961704	40251727	2331	18787										
TBC1D2	55357	hgsc.bcm.edu	37	chr9	100971024	100971024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacccggcggagcttgtcGgggaagctggaggtggggca	20	9	0	0	rs148143158	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:100971024G>A	ENST00000375064.1	-	9	2114	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	TBC1D2_ENST00000375063.1_Silent_p.P232P|TBC1D2_ENST00000342112.5_Silent_p.P474P|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.P692P	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	692	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGAGCTTGTCGGGGAAGCTGG	0.642													G|||	16	0.00319489	0.0	0.0043	5008	,	,		18428	0.0		0.004	False		,,,				2504	0.0092				p.P692P		Atlas-SNP	.											TBC1D2_ENST00000375063,NS,carcinoma,0,2	TBC1D2	70	2	0			c.C2076T						PASS	.	G		9,4397	14.3+/-33.2	0,9,2194	90	89	90		2076	-2.2	1	9	dbSNP_134	90	37,8563	24.6+/-71.5	0,37,4263	yes	coding-synonymous	TBC1D2	NM_018421.3		0,46,6457	AA,AG,GG		0.4302,0.2043,0.3537		692/918	100971024	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	55357	exon9			CTTGTCGGGGAAG	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2076C>T	9.37:g.100971024G>A		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	245	121	0.493878	NM_001267571	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37																																																																																				G|0.996;A|0.004	0.004	strong		0.642	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		A	100971024	G	A	100971024	2	1	23	1	0	0	0	0	0	0	0	1	15605	1103	39	1		1	TBC1D2	9	100971024	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9320	100971024	40242407	2332	18788										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101831995	101831995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggctccagcccccatggcGtccgccttgtggataactac	10	15	0	0	rs10519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:101831995G>A	ENST00000375001.3	+	42	4417	c.3994G>A	c.(3994-3996)Gtc>Atc	p.V1332I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1332	Nonhelical region 10 (NC10).		V -> I (in dbSNP:rs10519).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCCCATGGCGTCCGCCTTGT	0.502													g|||	914	0.182508	0.2602	0.1153	5008	,	,		17520	0.2758		0.0596	False		,,,				2504	0.1554				p.V1332I		Atlas-SNP	.											COL15A1,colon,carcinoma,0,1	COL15A1	211	1	0			c.G3994A						PASS	.	A	ILE/VAL	1056,3350	387.0+/-326.3	123,810,1270	110	115	113		3994	2.9	0.4	9	dbSNP_52	113	537,8063	149.4+/-204.5	13,511,3776	yes	missense	COL15A1	NM_001855.3	29	136,1321,5046	AA,AG,GG		6.2442,23.9673,12.2482	benign	1332/1389	101831995	1593,11413	2203	4300	6503	SO:0001583	missense	1306	exon42			CATGGCGTCCGCC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3994G>A	9.37:g.101831995G>A	ENSP00000364140:p.Val1332Ile	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	153	74	0.48366	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	359	0.16437728937728938	124	0.25203252032520324	41	0.1132596685082873	144	0.2517482517482518	50	0.06596306068601583	g	8.198	0.797528	0.16327	0.239673	0.062442	ENSG00000204291	ENST00000375001	T	0.42513	0.97	6.17	2.94	0.34122	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.214980	0.47455	N	0.000235	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.32268	-0.9913	9	0.07644	T	0.81	-12.17	4.5283	0.11992	0.4105:0.1596:0.4299:0.0	rs10519;rs1051089;rs3191468;rs11541244;rs57446173	1332	P39059	COFA1_HUMAN	I	1332	ENSP00000364140:V1332I	ENSP00000364140:V1332I	V	+	1	0	COL15A1	100871816	0.011000	0.17503	0.390000	0.26220	0.054000	0.15201	0.279000	0.18771	0.449000	0.26747	-0.713000	0.03633	GTC	G|0.860;A|0.140	0.140	strong		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101831995	G	A	101831995	3	1	23	1	0	0	0	0	1	0	0	0	3672	1145	40	1	4160	1	COL15A1	9	101831995	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	860971	101831995	39381436	2333	18789										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104335682	104335682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggatgtcctggtggatcCggatgcccagctggttttgt	17	8	0	0	rs3739722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:104335682C>T	ENST00000361820.3	-	9	3722	c.3122G>A	c.(3121-3123)cGg>cAg	p.R1041Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1041			R -> Q (in dbSNP:rs3739722). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:15489334}.		calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGGTGGATCCGGATGCCCAG	0.522													C|||	933	0.186302	0.2171	0.2046	5008	,	,		20654	0.2579		0.1173	False		,,,				2504	0.1288				p.R1041Q		Atlas-SNP	.											.	GRIN3A	186	.	0			c.G3122A						PASS	.	C	GLN/ARG	933,3473	356.9+/-313.7	104,725,1374	152	139	144		3122	-4	0	9	dbSNP_107	144	1126,7474	233.0+/-266.5	88,950,3262	yes	missense	GRIN3A	NM_133445.2	43	192,1675,4636	TT,TC,CC		13.093,21.1757,15.8312	benign	1041/1116	104335682	2059,10947	2203	4300	6503	SO:0001583	missense	116443	exon9			TGGATCCGGATGC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3122G>A	9.37:g.104335682C>T	ENSP00000355155:p.Arg1041Gln	Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	233	118	0.506438	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	421	0.19276556776556777	111	0.22560975609756098	63	0.17403314917127072	150	0.26223776223776224	97	0.1279683377308707	C	10.40	1.340250	0.24339	0.211757	0.13093	ENSG00000198785	ENST00000361820	T	0.09911	2.93	5.46	-3.96	0.04106	.	0.924765	0.09105	N	0.847883	T	0.00012	0.0000	M	0.66939	2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42155	-0.9468	9	0.18710	T	0.47	.	13.8051	0.63225	0.0:0.3847:0.0:0.6153	rs3739722;rs52800836;rs59648517;rs3739722	1041	Q8TCU5	NMD3A_HUMAN	Q	1041	ENSP00000355155:R1041Q	ENSP00000355155:R1041Q	R	-	2	0	GRIN3A	103375503	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	-1.991000	0.01478	-0.711000	0.04995	-0.136000	0.14681	CGG	C|0.831;T|0.169	0.169	strong		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104335682	C	T	104335682	3	4	23	1	0	0	0	0	1	0	0	0	6783	652	23	1	229	1	GRIN3A	9	104335682	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2503687	104335682	36877749	2334	18790										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104385711	104385711	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgtctagtttctctggatCattcctatatttaagaccag	8	9	3	1	rs10989563|rs35768024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:104385711C>T	ENST00000361820.3	-	5	3103	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	835			D -> N (in dbSNP:rs10989563). {ECO:0000269|PubMed:11880201}.		calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTCTCTGGATCATTCCTATAT	0.438													C|||	659	0.131589	0.0703	0.1671	5008	,	,		19009	0.0466		0.2386	False		,,,				2504	0.1667				p.D835N		Atlas-SNP	.											.	GRIN3A	186	.	0			c.G2503A						PASS	.	C	ASN/ASP	396,4010		22,352,1829	116	105	109		2503	5.7	1	9	dbSNP_120	109	1649,6951		257,1135,2908	yes	missense	GRIN3A	NM_133445.2	23	279,1487,4737	TT,TC,CC		19.1744,8.9877,15.7235	probably-damaging	835/1116	104385711	2045,10961	2203	4300	6503	SO:0001583	missense	116443	exon5			CTGGATCATTCCT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2503G>A	9.37:g.104385711C>T	ENSP00000355155:p.Asp835Asn	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	168	84	0.5	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	251	0.11492673992673992	24	0.04878048780487805	63	0.17403314917127072	22	0.038461538461538464	142	0.18733509234828497	C	28.4	4.921160	0.92249	0.089877	0.191744	ENSG00000198785	ENST00000361820	T	0.27104	1.69	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.113021	0.64402	D	0.000020	T	0.00109	0.0003	L	0.57536	1.79	0.09310	P	0.9999999709858	D	0.76494	0.999	D	0.72338	0.977	T	0.00081	-1.2106	9	0.25751	T	0.34	.	19.8937	0.96942	0.0:1.0:0.0:0.0	rs10989563;rs10989563	835	Q8TCU5	NMD3A_HUMAN	N	835	ENSP00000355155:D835N	ENSP00000355155:D835N	D	-	1	0	GRIN3A	103425532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.716000	0.92895	0.650000	0.86243	GAT	CA|0.500;TG|0.500	.	alt		0.438	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104385711	C	T	104385711	3	4	23	1	0	0	0	0	1	0	0	0	6783	826	29	2	864	2	GRIN3A	9	104385711	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	50029	104385711	36827720	2335	18791										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104449098	104449098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgtcctcagttcctccaCattctgggaatctcccagca	6	16	4	0	rs10989591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:104449098C>T	ENST00000361820.3	-	2	1684	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	362			V -> M (in dbSNP:rs10989591). {ECO:0000269|PubMed:11880201}.		calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGTTCCTCCACATTCTGGGAA	0.507													C|||	1601	0.319688	0.5295	0.2824	5008	,	,		21591	0.1081		0.326	False		,,,				2504	0.274				p.V362M		Atlas-SNP	.											.	GRIN3A	186	.	0			c.G1084A						PASS	.	C	MET/VAL	2091,2315	575.5+/-384.0	508,1075,620	76	66	69		1084	5.8	1	9	dbSNP_120	69	2703,5897	433.1+/-357.3	412,1879,2009	yes	missense	GRIN3A	NM_133445.2	21	920,2954,2629	TT,TC,CC		31.4302,47.458,36.8599	probably-damaging	362/1116	104449098	4794,8212	2203	4300	6503	SO:0001583	missense	116443	exon2			CCTCCACATTCTG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1084G>A	9.37:g.104449098C>T	ENSP00000355155:p.Val362Met	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	95	43	0.452632	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	655	0.2999084249084249	241	0.4898373983739837	102	0.281767955801105	66	0.11538461538461539	246	0.3245382585751979	C	21.1	4.103988	0.76983	0.47458	0.314302	ENSG00000198785	ENST00000361820	D	0.86366	-2.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.53249	1.67	0.09310	P	0.99999927067	B	0.33857	0.429	B	0.43990	0.438	T	0.14172	-1.0482	9	0.45353	T	0.12	.	20.1374	0.98035	0.0:1.0:0.0:0.0	rs10989591;rs52812520;rs59456765;rs10989591	362	Q8TCU5	NMD3A_HUMAN	M	362	ENSP00000355155:V362M	ENSP00000355155:V362M	V	-	1	0	GRIN3A	103488919	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	4.796000	0.62496	2.763000	0.94921	0.563000	0.77884	GTG	C|0.652;T|0.348	0.348	strong		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104449098	C	T	104449098	3	4	23	1	0	0	0	0	1	0	0	0	6783	478	17	2	2295	2	GRIN3A	9	104449098	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63387	104449098	36764333	2336	18792										
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361642	107361642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcaagtcttgggtgaccaGaaagtcccttcagaaaaaat	8	9	3	3	rs1851722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107361642G>A	ENST00000374779.2	-	1	146	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	18			S -> F (in dbSNP:rs1851722).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGGGTGACCAGAAAGTCCCTT	0.388													G|||	1205	0.240615	0.0998	0.366	5008	,	,		20151	0.38		0.2445	False		,,,				2504	0.1943				p.S18F		Atlas-SNP	.											.	OR13C5	60	.	0			c.C53T						PASS	.						49	52	51					9																	107361642		2201	4294	6495	SO:0001583	missense	138799	exon1			TGACCAGAAAGTC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.53C>T	9.37:g.107361642G>A	ENSP00000363911:p.Ser18Phe	Somatic	501	1	0.00199601		WXS	Illumina HiSeq	Phase_I	417	154	0.369305	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	599	0.2742673992673993	53	0.10772357723577236	127	0.35082872928176795	218	0.3811188811188811	201	0.26517150395778366	G	15.10	2.732376	0.48939	.	.	ENSG00000255800	ENST00000374779	T	0.00441	7.41	3.84	2.91	0.33838	.	0.000000	0.36932	U	0.002336	T	0.00012	0.0000	M	0.76170	2.325	0.80722	P	0.0	D	0.60575	0.988	P	0.54924	0.764	T	0.49143	-0.8970	9	0.87932	D	0	.	10.221	0.43196	0.0:0.0:0.8:0.2	rs1851722;rs35304986;rs57432004;rs1851722	18	Q8NGS8	O13C5_HUMAN	F	18	ENSP00000363911:S18F	ENSP00000363911:S18F	S	-	2	0	OR13C5	106401463	0.025000	0.19082	0.002000	0.10522	0.240000	0.25518	2.042000	0.41222	0.777000	0.33496	0.531000	0.56144	TCT	G|1.000;|0.000	.	weak		0.388	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361642	G	A	107361642	3	1	23	1	0	0	0	0	1	0	0	0	10937	942	33	2	905	2	OR13C5	9	107361642	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2912544	107361642	33851789	2337	18793										
OR13C2	392376	hgsc.bcm.edu	37	chr9	107367132	107367132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttagacttgggcttcatGtacatgaagaggatggtccc	11	8	2	3	rs10820679	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107367132G>A	ENST00000542196.1	-	1	819	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGGCTTCATGTACATGAAGA	0.433													G|||	1212	0.242013	0.1051	0.366	5008	,	,		20427	0.38		0.2445	False		,,,				2504	0.1943				p.Y259Y		Atlas-SNP	.											.	OR13C2	46	.	0			c.C777T						PASS	.	G		582,3820	248.4+/-256.2	66,450,1685	125	110	115		777	0.4	0.9	9	dbSNP_120	115	1950,6650	339.0+/-323.0	234,1482,2584	no	coding-synonymous	OR13C2	NM_001004481.1		300,1932,4269	AA,AG,GG		22.6744,13.2213,19.4739		259/319	107367132	2532,10470	2201	4300	6501	SO:0001819	synonymous_variant	392376	exon1			CTTCATGTACATG		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.777C>T	9.37:g.107367132G>A		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	242	117	0.483471	NM_001004481	B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	CCDS35092.1																																																																																			G|0.791;A|0.209	0.209	strong		0.433	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		A	107367132	G	A	107367132	2	1	23	1	0	0	0	0	0	0	0	1	10934	1372	48	2		2	OR13C2	9	107367132	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5490	107367132	33846299	2338	18794										
OR13C9	286362	hgsc.bcm.edu	37	chr9	107379895	107379895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgtggccacaagcatgagGaactcattgcctgagatgtc	11	9	1	2	rs10761054	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107379895G>T	ENST00000259362.1	-	1	590	c.591C>A	c.(589-591)ttC>ttA	p.F197L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	197			F -> L (in dbSNP:rs10761054).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAAGCATGAGGAACTCATTGC	0.408													G|||	1140	0.227636	0.056	0.3588	5008	,	,		24048	0.381		0.2445	False		,,,				2504	0.1912				p.F197L		Atlas-SNP	.											.	OR13C9	42	.	0			c.C591A						PASS	.	G	LEU/PHE	465,3941	222.0+/-238.9	35,395,1773	126	106	113		591	-1.3	1	9	dbSNP_120	113	1977,6623	347.4+/-326.6	234,1509,2557	yes	missense	OR13C9	NM_001001956.1	22	269,1904,4330	TT,TG,GG		22.9884,10.5538,18.7759	possibly-damaging	197/319	107379895	2442,10564	2203	4300	6503	SO:0001583	missense	286362	exon1			CATGAGGAACTCA		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.591C>A	9.37:g.107379895G>T	ENSP00000259362:p.Phe197Leu	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	242	115	0.475207	NM_001001956	Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	CCDS35093.1	575	0.2632783882783883	29	0.05894308943089431	125	0.3453038674033149	220	0.38461538461538464	201	0.26517150395778366	G	4.350	0.064455	0.08388	0.105538	0.229884	ENSG00000136839	ENST00000259362	T	0.00027	8.93	4.51	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	0.378699	0.20801	N	0.085431	T	0.00012	0.0000	N	0.00099	-2.14	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.04216	-1.0968	9	0.10636	T	0.68	.	9.204	0.37278	0.6672:0.0:0.3328:0.0	rs10761054;rs10761054	197	Q8NGT0	O13C9_HUMAN	L	197	ENSP00000259362:F197L	ENSP00000259362:F197L	F	-	3	2	OR13C9	106419716	0.000000	0.05858	0.988000	0.46212	0.934000	0.57294	-2.947000	0.00680	-0.145000	0.11294	-0.148000	0.13756	TTC	G|0.786;T|0.214	0.214	strong		0.408	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			T	107379895	G	T	107379895	3	4	23	1	0	0	0	0	1	0	0	0	10939	1165	41	4	368	4	OR13C9	9	107379895	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12763	107379895	33833536	2339	18795										
OR13C9	286362	hgsc.bcm.edu	37	chr9	107380396	107380396	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accacatacattatgaagatTagcacaaaaaagagtaactc	5	8	0	3	rs36091517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107380396T>G	ENST00000259362.1	-	1	89	c.90A>C	c.(88-90)ctA>ctC	p.L30L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TTATGAAGATTAGCACAAAAA	0.408													G|||	1140	0.227636	0.0552	0.3588	5008	,	,		18148	0.3819		0.2445	False		,,,				2504	0.1912				p.L30L		Atlas-SNP	.											.	OR13C9	42	.	0			c.A90C						PASS	.	G		463,3943	783.2+/-414.6	34,395,1774	148	139	142		90	-9.8	0	9	dbSNP_126	142	1977,6623	722.5+/-406.4	235,1507,2558	no	coding-synonymous	OR13C9	NM_001001956.1		269,1902,4332	GG,GT,TT		22.9884,10.5084,18.7606		30/319	107380396	2440,10566	2203	4300	6503	SO:0001819	synonymous_variant	286362	exon1			GAAGATTAGCACA		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.90A>C	9.37:g.107380396T>G		Somatic	402	0	0		WXS	Illumina HiSeq	Phase_I	371	162	0.436658	NM_001001956	Q6IFL2	Silent	SNP	ENST00000259362.1	37	CCDS35093.1																																																																																			T|0.792;G|0.208	0.208	strong		0.408	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			G	107380396	T	G	107380396	2	3	23	1	0	0	0	0	0	0	0	1	10939	1741	61	5		5	OR13C9	9	107380396	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	501	107380396	33833035	2340	18796										
OR13D1	286365	hgsc.bcm.edu	37	chr9	107456763	107456763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttacctgaatcatgtccttTtctatactacccagcaggca	5	12	2	1	rs10991359	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107456763T>C	ENST00000318763.5	+	1	104	c.61T>C	c.(61-63)Ttc>Ctc	p.F21L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	21			F -> L (in dbSNP:rs10991359).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F21L(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCATGTCCTTTTCTATACTAC	0.368													T|||	1099	0.219449	0.0106	0.3631	5008	,	,		18835	0.4484		0.2425	False		,,,				2504	0.1401				p.F21L		Atlas-SNP	.											OR13D1,NS,carcinoma,0,1	OR13D1	42	1	1	Substitution - Missense(1)	prostate(1)	c.T61C						PASS	.	T	LEU/PHE	238,4166	140.0+/-175.5	6,226,1970	65	61	63		61	-5.4	0	9	dbSNP_120	63	1834,6766	327.2+/-317.7	209,1416,2675	yes	missense	OR13D1	NM_001004484.1	22	215,1642,4645	CC,CT,TT		21.3256,5.4042,15.9336	benign	21/347	107456763	2072,10932	2202	4300	6502	SO:0001583	missense	286365	exon1			GTCCTTTTCTATA		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.61T>C	9.37:g.107456763T>C	ENSP00000317357:p.Phe21Leu	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	151	71	0.470199	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	582	0.2664835164835165	7	0.014227642276422764	117	0.32320441988950277	261	0.4562937062937063	197	0.2598944591029024	T	10.34	1.323824	0.24080	0.054042	0.213256	ENSG00000179055	ENST00000318763	T	0.00003	9.83	4.08	-5.42	0.02640	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.04165	-1.0972	8	0.27785	T	0.31	.	1.5599	0.02593	0.5009:0.1979:0.1347:0.1665	rs10991359;rs52837362;rs10991359	21	Q8NGV5	O13D1_HUMAN	L	21	ENSP00000317357:F21L	ENSP00000317357:F21L	F	+	1	0	OR13D1	106496584	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-1.980000	0.01492	-0.946000	0.03677	0.533000	0.62120	TTC	T|0.800;C|0.200	0.200	strong		0.368	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			C	107456763	T	C	107456763	3	2	23	1	0	0	0	0	1	0	0	0	10940	1841	64	2	63	2	OR13D1	9	107456763	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	76367	107456763	33756668	2341	18797										
ABCA1	19	hgsc.bcm.edu	37	chr9	107602666	107602666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgagagacttgatcttcagCccccctccctcgggatgccc	9	16	2	3	rs2246841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107602666C>T	ENST00000374736.3	-	9	1342	c.948G>A	c.(946-948)ggG>ggA	p.G316G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	316					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGATCTTCAGCCCCCCTCCCT	0.512													C|||	764	0.152556	0.2685	0.1859	5008	,	,		19626	0.0377		0.0944	False		,,,				2504	0.1503				p.G316G		Atlas-SNP	.											.	ABCA1	244	.	0			c.G948A						PASS	.	C		978,3428	367.1+/-318.1	121,736,1346	117	89	98		948	-3.4	1	9	dbSNP_100	98	965,7635	210.4+/-251.3	49,867,3384	no	coding-synonymous	ABCA1	NM_005502.3		170,1603,4730	TT,TC,CC		11.2209,22.197,14.9393		316/2262	107602666	1943,11063	2203	4300	6503	SO:0001819	synonymous_variant	19	exon9			CTTCAGCCCCCCT	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.948G>A	9.37:g.107602666C>T		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	241	115	0.477178	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			C|0.866;T|0.134	0.134	strong		0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107602666	C	T	107602666	2	4	23	1	0	0	0	0	0	0	0	1	28	726	26	2		2	ABCA1	9	107602666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	145903	107602666	33610765	2342	18798										
ABCA1	19	hgsc.bcm.edu	37	chr9	107620867	107620867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctgcagccagtttctccCttggtaggccacaaagctca	9	14	2	0	rs2230806	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:107620867C>T	ENST00000374736.3	-	7	1050	c.656G>A	c.(655-657)aGg>aAg	p.R219K	ABCA1_ENST00000423487.2_Missense_Mutation_p.R219K	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	219			R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806). {ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11238261, ECO:0000269|PubMed:11257261, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:12624133, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:15520867}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R219K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGTTTCTCCCTTGGTAGGCC	0.468													C|||	2202	0.439696	0.7103	0.3487	5008	,	,		19674	0.4147		0.2425	False		,,,				2504	0.3671				p.R219K		Atlas-SNP	.											ABCA1,NS,carcinoma,0,1	ABCA1	244	1	1	Substitution - Missense(1)	stomach(1)	c.G656A	GRCh37	CM030397	ABCA1	M	rs2230806	PASS	.	C	LYS/ARG	2672,1734	648.2+/-398.7	820,1032,351	154	151	152	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	656	0.1	0.2	9	dbSNP_98	152	2420,6180	400.1+/-346.7	322,1776,2202	yes	missense	ABCA1	NM_005502.3	26	1142,2808,2553	TT,TC,CC		28.1395,39.3554,39.1512	benign	219/2262	107620867	5092,7914	2203	4300	6503	SO:0001583	missense	19	exon7			TTCTCCCTTGGTA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.656G>A	9.37:g.107620867C>T	ENSP00000363868:p.Arg219Lys	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	169	65	0.384615	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	916	0.4194139194139194	356	0.7235772357723578	127	0.35082872928176795	250	0.4370629370629371	183	0.24142480211081793	C	7.792	0.711767	0.15306	0.606446	0.281395	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.94931	-2.23;-3.56	6.17	0.0573	0.14322	.	0.632115	0.18950	N	0.126712	T	0.00012	0.0000	N	0.04880	-0.145	0.28835	P	0.896936	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	9	0.16896	T	0.51	.	8.2419	0.31665	0.0:0.3764:0.0:0.6236	rs2230806;rs2234884;rs2853572;rs52801000;rs61696010;rs2230806	219	O95477	ABCA1_HUMAN	K	219	ENSP00000363868:R219K;ENSP00000416623:R219K	ENSP00000363868:R219K	R	-	2	0	ABCA1	106660688	0.825000	0.29262	0.227000	0.23927	0.534000	0.34807	0.318000	0.19504	0.083000	0.17047	0.655000	0.94253	AGG	C|0.587;T|0.413	0.413	strong		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107620867	C	T	107620867	3	4	23	1	0	0	0	0	1	0	0	0	28	681	24	2	6305	2	ABCA1	9	107620867	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18201	107620867	33592564	2343	18799										
ACTL7B	10880	hgsc.bcm.edu	37	chr9	111617341	111617341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaagcgctcctggccaatAgtgatgagtttgccgtccgg	14	11	0	2	rs3750467	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:111617341A>G	ENST00000374667.3	-	1	1898	c.870T>C	c.(868-870)acT>acC	p.T290T		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	290						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTGGCCAATAGTGATGAGTT	0.667													G|||	642	0.128195	0.0469	0.1009	5008	,	,		18533	0.1379		0.1451	False		,,,				2504	0.2301				p.T290T		Atlas-SNP	.											.	ACTL7B	57	.	0			c.T870C						PASS	.	G		257,4141		12,233,1954	47	54	52		870	3.1	1	9	dbSNP_107	52	1127,7457		70,987,3235	no	coding-synonymous	ACTL7B	NM_006686.3		82,1220,5189	GG,GA,AA		13.1291,5.8436,10.6609		290/416	111617341	1384,11598	2199	4292	6491	SO:0001819	synonymous_variant	10880	exon1			GCCAATAGTGATG	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.870T>C	9.37:g.111617341A>G		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	126	55	0.436508	NM_006686	B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	CCDS6771.1																																																																																			A|0.890;G|0.110	0.110	strong		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		G	111617341	A	G	111617341	2	3	23	1	0	0	0	0	0	0	0	1	201	407	15	3		3	ACTL7B	9	111617341	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3996474	111617341	29596090	2344	18800										
IKBKAP	8518	hgsc.bcm.edu	37	chr9	111653574	111653574	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttccagttgccacatgtCagaaaggctgagagagcttt	11	9	1	3	rs1063110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:111653574C>G	ENST00000374647.5	-	28	3376	c.3069G>C	c.(3067-3069)ctG>ctC	p.L1023L	IKBKAP_ENST00000537196.1_Silent_p.L674L|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1023					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCCACATGTCAGAAAGGCTG	0.562													C|||	1580	0.315495	0.0477	0.4553	5008	,	,		16868	0.4762		0.4523	False		,,,				2504	0.272				p.L1023L		Atlas-SNP	.											.	IKBKAP	122	.	0			c.G3069C						PASS	.	C		494,3912	227.5+/-242.7	36,422,1745	89	84	86		3069	3.9	1	9	dbSNP_86	86	3914,4686	546.6+/-385.0	907,2100,1293	no	coding-synonymous	IKBKAP	NM_003640.3		943,2522,3038	GG,GC,CC		45.5116,11.212,33.892		1023/1333	111653574	4408,8598	2203	4300	6503	SO:0001819	synonymous_variant	8518	exon28			ACATGTCAGAAAG	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3069G>C	9.37:g.111653574C>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_003640	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																			G|0.357;C|0.643	0.357	strong		0.562	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			G	111653574	C	G	111653574	2	3	23	1	0	0	0	0	0	0	0	1	7610	813	29	4		4	IKBKAP	9	111653574	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	36233	111653574	29559857	2345	18801										
IKBKAP	8518	hgsc.bcm.edu	37	chr9	111665215	111665215	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catggtttaatagccagagaAggtgactctgcaagattcac	10	8	2	3	rs35054425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:111665215A>C	ENST00000374647.5	-	16	2065	c.1758T>G	c.(1756-1758)ccT>ccG	p.P586P	IKBKAP_ENST00000537196.1_Silent_p.P237P	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	586					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAGCCAGAGAAGGTGACTCTG	0.423													A|||	73	0.0145767	0.0015	0.0058	5008	,	,		15642	0.0		0.0089	False		,,,				2504	0.0593				p.P586P		Atlas-SNP	.											.	IKBKAP	122	.	0			c.T1758G						PASS	.	A		8,4398	12.9+/-30.5	0,8,2195	84	84	84		1758	-1.3	1	9	dbSNP_126	84	131,8469	67.0+/-129.4	1,129,4170	no	coding-synonymous	IKBKAP	NM_003640.3		1,137,6365	CC,CA,AA		1.5233,0.1816,1.0687		586/1333	111665215	139,12867	2203	4300	6503	SO:0001819	synonymous_variant	8518	exon16			CAGAGAAGGTGAC	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1758T>G	9.37:g.111665215A>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	118	50	0.423729	NM_003640	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																			A|0.990;C|0.010	0.010	strong		0.423	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			C	111665215	A	C	111665215	2	2	23	1	0	0	0	0	0	0	0	1	7610	59	3	5		5	IKBKAP	9	111665215	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11641	111665215	29548216	2346	18802										
C9orf5	23731	hgsc.bcm.edu	37	chr9	111881927	111881927	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtgcagaaaagtgccgcaTagcacggcccagagcagcgg	16	11	0	2	rs6825	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:111881927T>C	ENST00000374586.3	-	1	298	c.267A>G	c.(265-267)ctA>ctG	p.L89L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	89						integral component of membrane (GO:0016021)											AAGTGCCGCATAGCACGGCCC	0.701													C|||	1632	0.325879	0.2035	0.4179	5008	,	,		10967	0.2937		0.4652	False		,,,				2504	0.316				p.L89L		Atlas-SNP	.											C9orf5,NS,carcinoma,0,1	.	.	1	0			c.A267G						PASS	.	C		911,3171		141,629,1271	12	21	18		267	2.7	1	9	dbSNP_52	18	3699,4635		871,1957,1339	no	coding-synonymous	C9orf5	NM_032012.3		1012,2586,2610	CC,CT,TT		44.3844,22.3175,37.1295		89/880	111881927	4610,7806	2041	4167	6208	SO:0001819	synonymous_variant	23731	exon1			GCCGCATAGCACG	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.267A>G	9.37:g.111881927T>C		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	79	34	0.43038	NM_032012	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	CCDS43858.1																																																																																			T|0.679;C|0.321	0.321	strong		0.701	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		C	111881927	T	C	111881927	2	2	23	1	0	0	0	0	0	0	0	1	2486	1393	49	2		2	C9orf5	9	111881927	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	216712	111881927	29331504	2347	18803										
PTPN3	5774	hgsc.bcm.edu	37	chr9	112166845	112166845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggcttcggggaaaagctgGttcagttcatcttcagactt	11	8	4	1	rs34302609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:112166845G>A	ENST00000374541.2	-	19	1940	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	PTPN3_ENST00000446349.1_Silent_p.N436N|PTPN3_ENST00000394827.3_Silent_p.N80N|PTPN3_ENST00000262539.3_Silent_p.N458N|PTPN3_ENST00000412145.1_Silent_p.N481N	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	612					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ggaaaagctggttcagttcat	0.517													G|||	49	0.00978435	0.0023	0.0144	5008	,	,		21400	0.0		0.0328	False		,,,				2504	0.0031				p.N612N		Atlas-SNP	.											.	PTPN3	106	.	0			c.C1836T						PASS	.	G	,,,,,	24,4382	30.8+/-60.4	0,24,2179	114	102	106		1701,1443,1308,975,840,1836	2.2	0.9	9	dbSNP_126	106	260,8340	101.2+/-162.5	4,252,4044	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_001145371.1,NM_001145372.1,NM_002829.3	,,,,,	4,276,6223	AA,AG,GG		3.0233,0.5447,2.1836	,,,,,	567/869,481/783,436/738,325/627,280/582,612/914	112166845	284,12722	2203	4300	6503	SO:0001819	synonymous_variant	5774	exon19			AAGCTGGTTCAGT		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1836C>T	9.37:g.112166845G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_002829	A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	CCDS6776.1																																																																																			G|0.978;A|0.022	0.022	strong		0.517	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112166845	G	A	112166845	2	1	23	1	0	0	0	0	0	0	0	1	12789	1252	44	2		2	PTPN3	9	112166845	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	284918	112166845	29046586	2348	18804										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113148346	113148346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatcacaaaaggaacagggcAtggatttgctgtcaaaaaga	10	6	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113148346A>G	ENST00000401783.2	-	43	10405	c.10069T>C	c.(10069-10071)Tgc>Cgc	p.C3357R	SVEP1_ENST00000374469.1_Missense_Mutation_p.C3334R|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1283R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3357	Sushi 33. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAACAGGGCATGGATTTGCT	0.388																																					p.C3357R		Atlas-SNP	.											SVEP1,NS,carcinoma,+1,1	SVEP1	326	1	0			c.T10069C						scavenged	.						86	82	83					9																	113148346		1869	4118	5987	SO:0001583	missense	79987	exon43			CAGGGCATGGATT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10069T>C	9.37:g.113148346A>G	ENSP00000384917:p.Cys3357Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	105	2	0.0190476	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921774	0.73213	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.99778	-6.73;-6.73;-6.73	5.22	5.22	0.72569	Complement control module (3);Sushi/SCR/CCP (3);	0.089147	0.85682	D	0.000000	D	0.99785	0.9910	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96953	0.9696	10	0.87932	D	0	.	15.4598	0.75346	1.0:0.0:0.0:0.0	.	3357	Q4LDE5	SVEP1_HUMAN	R	3357;3334;1283	ENSP00000384917:C3357R;ENSP00000363593:C3334R;ENSP00000297826:C1283R	ENSP00000297826:C1283R	C	-	1	0	SVEP1	112188167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.109000	0.64355	0.529000	0.55759	TGC	.	.	none		0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113148346	A	G	113148346	3	3	23	1	0	0	0	0	1	0	0	0	15417	217	8	2	670	2	SVEP1	9	113148346	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	981501	113148346	28065085	2349	18805										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113170289	113170289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcaaggcactgggaccttCgagccgaaagcctcggttgc	14	12	1	0	rs143931457	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113170289C>T	ENST00000401783.2	-	38	7927	c.7591G>A	c.(7591-7593)Gaa>Aaa	p.E2531K	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2508K|SVEP1_ENST00000297826.5_Missense_Mutation_p.E457K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2531	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGGACCTTCGAGCCGAAAG	0.493													C|||	15	0.00299521	0.0008	0.0086	5008	,	,		21392	0.0		0.008	False		,,,				2504	0.0				p.E2531K		Atlas-SNP	.											.	SVEP1	326	.	0			c.G7591A						PASS	.	C	LYS/GLU	4,3868		0,4,1932	46	46	46		7591	-0.5	0	9	dbSNP_134	46	62,8228		0,62,4083	yes	missense	SVEP1	NM_153366.3	56	0,66,6015	TT,TC,CC		0.7479,0.1033,0.5427	possibly-damaging	2531/3572	113170289	66,12096	1936	4145	6081	SO:0001583	missense	79987	exon38			GACCTTCGAGCCG	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7591G>A	9.37:g.113170289C>T	ENSP00000384917:p.Glu2531Lys	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	9	0.004120879120879121	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	5	0.006596306068601583	C	2.875	-0.233153	0.05983	0.001033	0.007479	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63913	-0.07;-0.07;-0.07	6.07	-0.482	0.12078	Complement control module (2);Sushi/SCR/CCP (3);	0.429928	0.28815	N	0.014048	T	0.31918	0.0812	L	0.38838	1.175	0.54753	D	0.999989	B	0.17268	0.021	B	0.10450	0.005	T	0.23261	-1.0193	10	0.06099	T	0.92	.	6.6805	0.23117	0.0:0.4592:0.2109:0.3299	.	2531	Q4LDE5	SVEP1_HUMAN	K	2531;2508;457;203	ENSP00000384917:E2531K;ENSP00000363593:E2508K;ENSP00000297826:E457K	ENSP00000297826:E457K	E	-	1	0	SVEP1	112210110	0.019000	0.18553	0.048000	0.18961	0.204000	0.24138	0.273000	0.18662	-0.095000	0.12351	0.655000	0.94253	GAA	C|0.996;T|0.004	0.004	strong		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113170289	C	T	113170289	3	4	23	1	0	0	0	0	1	0	0	0	15417	893	31	1	3168	1	SVEP1	9	113170289	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21943	113170289	28043142	2350	18806										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113208250	113208250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatggagagatgggagcaTgccatctagcatgacatatc	12	8	1	2	rs7863519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113208250T>G	ENST00000401783.2	-	26	4666	c.4330A>C	c.(4330-4332)Atg>Ctg	p.M1444L	SVEP1_ENST00000302728.8_Missense_Mutation_p.M1444L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.M1421L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1444	Pentaxin.		M -> L (in dbSNP:rs7863519).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.M1444L(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGGAGCATGCCATCTAGC	0.438													C|||	1701	0.339657	0.4569	0.2205	5008	,	,		20843	0.4504		0.1918	False		,,,				2504	0.3037				p.M1444L		Atlas-SNP	.											SVEP1,NS,carcinoma,0,2	SVEP1	326	2	2	Substitution - Missense(2)	prostate(2)	c.A4330C						PASS	.	C	LEU/MET	1478,2424		275,928,748	119	114	116		4330	3.6	0	9	dbSNP_116	116	1600,6712		164,1272,2720	yes	missense	SVEP1	NM_153366.3	15	439,2200,3468	GG,GT,TT		19.2493,37.878,25.2006	benign	1444/3572	113208250	3078,9136	1951	4156	6107	SO:0001583	missense	79987	exon26			GGAGCATGCCATC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4330A>C	9.37:g.113208250T>G	ENSP00000384917:p.Met1444Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	194	108	0.556701	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	699	0.32005494505494503	228	0.4634146341463415	80	0.22099447513812154	241	0.42132867132867136	150	0.19788918205804748	C	0.025	-1.378392	0.01204	0.37878	0.192493	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.71817	3.35;3.35;-0.6	5.5	3.62	0.41486	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.301359	0.35466	N	0.003189	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.08055	0.0;0.003	T	0.41197	-0.9522	9	0.10377	T	0.69	.	8.2245	0.31560	0.0:0.6915:0.1135:0.195	rs7863519;rs52830057;rs60340468;rs7863519	1444;1444	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1444;1421;1444	ENSP00000384917:M1444L;ENSP00000363593:M1421L;ENSP00000304118:M1444L	ENSP00000304118:M1444L	M	-	1	0	SVEP1	112248071	0.004000	0.15560	0.023000	0.16930	0.138000	0.21146	0.095000	0.15127	0.361000	0.24292	-0.119000	0.15052	ATG	T|0.684;G|0.316	0.316	strong		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113208250	T	G	113208250	3	3	23	1	0	0	0	0	1	0	0	0	15417	1464	51	5	6477	5	SVEP1	9	113208250	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	37961	113208250	28005181	2351	18807										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113221247	113221247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttacttgaacattctgtgaTggatctggaaccagcgaatg	10	8	2	2	rs7038903	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113221247T>C	ENST00000401783.2	-	19	3805	c.3469A>G	c.(3469-3471)Atc>Gtc	p.I1157V	SVEP1_ENST00000302728.8_Missense_Mutation_p.I1157V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1134V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1157			I -> V (in dbSNP:rs7038903).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGTGATGGATCTGGAA	0.428													T|||	879	0.175519	0.3003	0.183	5008	,	,		19641	0.0913		0.1421	False		,,,				2504	0.1227				p.I1157V		Atlas-SNP	.											.	SVEP1	326	.	0			c.A3469G						PASS	.	T	VAL/ILE	940,2834		109,722,1056	95	93	94		3469	5.6	1	9	dbSNP_116	94	1244,6990		104,1036,2977	yes	missense	SVEP1	NM_153366.3	29	213,1758,4033	CC,CT,TT		15.1081,24.9073,18.1879	possibly-damaging	1157/3572	113221247	2184,9824	1887	4117	6004	SO:0001583	missense	79987	exon19			CTGTGATGGATCT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3469A>G	9.37:g.113221247T>C	ENSP00000384917:p.Ile1157Val	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	157	65	0.414013	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	380	0.17399267399267399	150	0.3048780487804878	62	0.1712707182320442	55	0.09615384615384616	113	0.14907651715039577	T	16.69	3.193795	0.58017	0.249073	0.151081	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15017	2.46;2.46;2.46	5.6	5.6	0.85130	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	N	0.20986	0.625	0.27289	P	0.9578915	D;D	0.69078	0.958;0.997	D;D	0.80764	0.97;0.994	T	0.49790	-0.8902	9	0.30078	T	0.28	.	15.7828	0.78275	0.0:0.0:0.0:1.0	rs7038903;rs61264667;rs7038903	1157;1157	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1157;1134;1157	ENSP00000384917:I1157V;ENSP00000363593:I1134V;ENSP00000304118:I1157V	ENSP00000304118:I1157V	I	-	1	0	SVEP1	112261068	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.647000	0.83462	2.125000	0.65367	0.482000	0.46254	ATC	T|0.828;C|0.172	0.172	strong		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113221247	T	C	113221247	3	2	23	1	0	0	0	0	1	0	0	0	15417	1464	51	2	7366	2	SVEP1	9	113221247	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12997	113221247	27992184	2352	18808										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113312231	113312231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccatgtcattcagctctcGaatgttcccttgccatatgc	7	13	3	0	rs61751937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113312231G>C	ENST00000401783.2	-	2	1021	c.685C>G	c.(685-687)Cga>Gga	p.R229G	SVEP1_ENST00000302728.8_Missense_Mutation_p.R229G|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R206G|SVEP1_ENST00000374461.1_Missense_Mutation_p.R206G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	229	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCAGCTCTCGAATGTTCCCT	0.493													G|||	66	0.0131789	0.0015	0.0144	5008	,	,		22248	0.0		0.0338	False		,,,				2504	0.0204				p.R229G		Atlas-SNP	.											.	SVEP1	326	.	0			c.C685G						PASS	.	G	GLY/ARG	19,3863		0,19,1922	116	109	111		685	4.6	1	9	dbSNP_129	111	222,8076		4,214,3931	yes	missense	SVEP1	NM_153366.3	125	4,233,5853	CC,CG,GG		2.6753,0.4894,1.9787	probably-damaging	229/3572	113312231	241,11939	1941	4149	6090	SO:0001583	missense	79987	exon2			GCTCTCGAATGTT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.685C>G	9.37:g.113312231G>C	ENSP00000384917:p.Arg229Gly	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	188	95	0.505319	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	38	0.0173992673992674	0	0.0	7	0.019337016574585635	0	0.0	31	0.040897097625329816	G	19.22	3.785977	0.70337	0.004894	0.026753	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.5	4.59	0.56863	von Willebrand factor, type A (3);	0.066403	0.56097	D	0.000023	T	0.66790	0.2825	L	0.39085	1.19	0.35851	D	0.826799	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.85130	0.997;0.959;0.95	D	0.84708	0.0732	10	0.72032	D	0.01	.	15.7144	0.77655	0.0:0.0:0.8548:0.1452	rs61751937	229;229;229	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	G	229;206;229;206	ENSP00000384917:R229G;ENSP00000363593:R206G;ENSP00000304118:R229G;ENSP00000363585:R206G	ENSP00000304118:R229G	R	-	1	2	SVEP1	112352052	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	7.152000	0.77419	1.411000	0.46957	0.563000	0.77884	CGA	G|0.954;C|0.046	0.046	strong		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113312231	G	C	113312231	3	2	23	1	0	0	0	0	1	0	0	0	15417	1066	37	4	10218	4	SVEP1	9	113312231	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	90984	113312231	27901200	2353	18809										
LPAR1	1902	hgsc.bcm.edu	37	chr9	113637854	113637854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcgctcatttctttgtcGcggtaggagtaaatgatggg	15	6	2	1	rs3739709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:113637854G>A	ENST00000374431.3	-	5	1325	c.942C>T	c.(940-942)cgC>cgT	p.R314R	LPAR1_ENST00000358883.4_Silent_p.R314R|LPAR1_ENST00000541779.1_Silent_p.R315R|LPAR1_ENST00000374430.2_Silent_p.R314R|LPAR1_ENST00000538760.1_Silent_p.R315R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	314					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCTTTGTCGCGGTAGGAGT	0.562													G|||	670	0.133786	0.0113	0.1643	5008	,	,		17668	0.1905		0.1988	False		,,,				2504	0.1524				p.R314R	NSCLC(115;661 2323 9836 34256)	Atlas-SNP	.											LPAR1,NS,carcinoma,-1,2	LPAR1	48	2	0			c.C942T						PASS	.	G	,	198,4208	124.1+/-161.4	5,188,2010	169	166	167		942,942	-9.9	0.6	9	dbSNP_107	167	1657,6943	306.2+/-307.8	153,1351,2796	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	158,1539,4806	AA,AG,GG		19.2674,4.4939,14.2626	,	314/365,314/365	113637854	1855,11151	2203	4300	6503	SO:0001819	synonymous_variant	1902	exon4			TTTGTCGCGGTAG	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.942C>T	9.37:g.113637854G>A		Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	235	122	0.519149	NM_001401	B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	CCDS6777.1																																																																																			G|0.863;A|0.137	0.137	strong		0.562	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		A	113637854	G	A	113637854	2	1	23	1	0	0	0	0	0	0	0	1	8904	1074	38	1		1	LPAR1	9	113637854	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	325623	113637854	27575577	2354	18810										
DNAJC25	548645	hgsc.bcm.edu	37	chr9	114411945	114411945	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtaaaatagatataaagggGggctatcagaaaccccaaat	9	6	1	2	rs7019332	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:114411945G>T	ENST00000313525.3	+	3	758	c.702G>T	c.(700-702)ggG>ggT	p.G234G	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	234						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATATAAAGGGGGGCTATCAGA	0.353													G|||	1563	0.312101	0.3517	0.4251	5008	,	,		18464	0.4127		0.2306	False		,,,				2504	0.1585				p.G234G		Atlas-SNP	.											.	DNAJC25	20	.	0			c.G702T						PASS	.	G	,	1147,2465		194,759,853	41	42	42		702,	-0.3	1	9	dbSNP_116	42	1718,6410		175,1368,2521	no	coding-synonymous,intron	DNAJC25,DNAJC25-GNG10	NM_001015882.2,NM_004125.3	,	369,2127,3374	TT,TG,GG		21.1368,31.7553,24.4037	,	234/361,	114411945	2865,8875	1806	4064	5870	SO:0001819	synonymous_variant	548645	exon3			AAAGGGGGGCTAT		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.702G>T	9.37:g.114411945G>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	89	50	0.561798	NM_001015882	Q5QTD8|Q96BN9	Silent	SNP	ENST00000313525.3	37	CCDS43862.1																																																																																			G|0.691;T|0.309	0.309	strong		0.353	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		T	114411945	G	T	114411945	2	4	23	1	0	0	0	0	0	0	0	1	4643	1219	43	4		4	DNAJC25	9	114411945	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	774091	114411945	26801486	2355	18811										
SUSD1	64420	hgsc.bcm.edu	37	chr9	114820741	114820741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtgattcgtaatataatGcagtaatcactccctctttt	5	9	2	1	rs2296213	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:114820741G>A	ENST00000374270.3	-	14	2248	c.2076C>T	c.(2074-2076)tgC>tgT	p.C692C	SUSD1_ENST00000374263.3_Silent_p.C692C|SUSD1_ENST00000374264.2_Silent_p.C692C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	692						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTAATATAATGCAGTAATCAC	0.368													G|||	263	0.052516	0.0809	0.0216	5008	,	,		22437	0.0724		0.006	False		,,,				2504	0.0634				p.C692C		Atlas-SNP	.											.	SUSD1	51	.	0			c.C2076T						PASS	.	G		309,4097	167.3+/-198.3	6,297,1900	89	83	85		2076	2.7	1	9	dbSNP_100	85	87,8513	49.8+/-109.6	0,87,4213	no	coding-synonymous	SUSD1	NM_022486.3		6,384,6113	AA,AG,GG		1.0116,7.0132,3.0447		692/748	114820741	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	64420	exon14			TATAATGCAGTAA	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2076C>T	9.37:g.114820741G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	CCDS6783.1	82	0.037545787545787544	30	0.06097560975609756	10	0.027624309392265192	38	0.06643356643356643	4	0.005277044854881266	G	9.467	1.094501	0.20471	0.070132	0.010116	ENSG00000106868	ENST00000355396	.	.	.	5.73	2.66	0.31614	.	.	.	.	.	T	0.09862	0.0242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02917	-1.1094	4	.	.	.	-1.4249	9.7174	0.40283	0.3205:0.0:0.6795:0.0	rs2296213;rs17845639;rs17858571;rs56505675;rs2296213	.	.	.	Y	676	.	.	H	-	1	0	SUSD1	113860562	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	1.735000	0.38176	0.266000	0.21894	0.655000	0.94253	CAT	G|0.966;A|0.034	0.034	strong		0.368	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		A	114820741	G	A	114820741	2	1	23	1	0	0	0	0	0	0	0	1	15404	1311	46	2		2	SUSD1	9	114820741	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	408796	114820741	26392690	2356	18812										
KIAA1958	158405	hgsc.bcm.edu	37	chr9	115421788	115421788	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgcgcgttctcgcaacatCgtctacttctccctttctga	8	15	4	1	rs16917185	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:115421788C>A	ENST00000337530.6	+	4	1886	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	KIAA1958_ENST00000536272.1_Silent_p.I558I	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	530										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTCGCAACATCGTCTACTTCT	0.567													C|||	533	0.10643	0.1997	0.0274	5008	,	,		20775	0.0972		0.0338	False		,,,				2504	0.1207				p.I530I		Atlas-SNP	.											.	KIAA1958	52	.	0			c.C1590A						PASS	.	C		778,3628	312.5+/-292.6	69,640,1494	62	53	56		1590	-0.9	1	9	dbSNP_123	56	229,8371	93.5+/-155.5	3,223,4074	no	coding-synonymous	KIAA1958	NM_133465.2		72,863,5568	AA,AC,CC		2.6628,17.6577,7.7426		530/717	115421788	1007,11999	2203	4300	6503	SO:0001819	synonymous_variant	158405	exon4			CAACATCGTCTAC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1590C>A	9.37:g.115421788C>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	151	60	0.397351	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																			C|0.916;A|0.084	0.084	strong		0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		A	115421788	C	A	115421788	2	1	23	1	0	0	0	0	0	0	0	1	8264	874	31	4		4	KIAA1958	9	115421788	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	601047	115421788	25791643	2357	18813										
SLC46A2	57864	hgsc.bcm.edu	37	chr9	115652836	115652836	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtaggacgccttcaccacGaggagtagccccgcatcgta	11	15	1	0	rs3802492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:115652836G>A	ENST00000374228.4	-	1	357	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	42					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCTTCACCACGAGGAGTAGCC	0.677													G|||	1408	0.28115	0.3986	0.2363	5008	,	,		15844	0.0982		0.3191	False		,,,				2504	0.3037				p.L42L		Atlas-SNP	.											.	SLC46A2	30	.	0			c.C126T						PASS	.	G		1716,2690	514.7+/-368.7	349,1018,836	57	60	59		126	-1.1	1	9	dbSNP_107	59	2750,5850	437.4+/-358.6	472,1806,2022	no	coding-synonymous	SLC46A2	NM_033051.3		821,2824,2858	AA,AG,GG		31.9767,38.9469,34.338		42/476	115652836	4466,8540	2203	4300	6503	SO:0001819	synonymous_variant	57864	exon1			CACCACGAGGAGT	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.126C>T	9.37:g.115652836G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	55	53	0.963636	NM_033051	B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	CCDS6786.1																																																																																			G|0.682;A|0.318	0.318	strong		0.677	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		A	115652836	G	A	115652836	2	1	23	1	0	0	0	0	0	0	0	1	14645	1045	37	1		1	SLC46A2	9	115652836	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	231048	115652836	25560595	2358	18814										
FKBP15	23307	hgsc.bcm.edu	37	chr9	115950156	115950156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagcagaaggtgcctggaGcccagtaacagatggctgag	16	9	0	3	rs10465129	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:115950156G>A	ENST00000238256.3	-	14	1417	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	434			L -> F (in dbSNP:rs10465129).		endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.L434F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGTGCCTGGAGCCCAGTAACA	0.458													G|||	611	0.122005	0.0091	0.1138	5008	,	,		23480	0.2183		0.0736	False		,,,				2504	0.2311				p.L434F		Atlas-SNP	.											FKBP15_ENST00000238256,NS,carcinoma,0,1	FKBP15	128	1	1	Substitution - Missense(1)	stomach(1)	c.C1300T						PASS	.	G	PHE/LEU	67,3965		0,67,1949	81	85	84		1300	4.1	1	9	dbSNP_119	84	549,7817		17,515,3651	yes	missense	FKBP15	NM_015258.1	22	17,582,5600	AA,AG,GG		6.5623,1.6617,4.9685	probably-damaging	434/1220	115950156	616,11782	2016	4183	6199	SO:0001583	missense	23307	exon14			CCTGGAGCCCAGT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1300C>T	9.37:g.115950156G>A	ENSP00000238256:p.Leu434Phe	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	209	103	0.492823	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	231	0.10576923076923077	8	0.016260162601626018	33	0.09116022099447514	137	0.2395104895104895	53	0.06992084432717678	.	14.88	2.666880	0.47677	0.016617	0.065623	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.32988	1.83;1.84;1.43	5.97	4.05	0.47172	.	.	.	.	.	T	0.00012	0.0000	L	0.52364	1.645	0.30854	P	0.7343189999999999	B;B;B;B	0.18610	0.029;0.016;0.016;0.009	B;B;B;B	0.20955	0.032;0.014;0.014;0.007	T	0.06006	-1.0851	8	0.45353	T	0.12	-10.9534	10.3509	0.43934	0.0:0.144:0.7077:0.1482	rs10465129;rs11558692;rs52793569;rs10465129	15;434;434;434	B4DVS2;Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;.;FKB15_HUMAN	F	459;434;459	ENSP00000416158:L459F;ENSP00000238256:L434F;ENSP00000415733:L459F	ENSP00000238256:L434F	L	-	1	0	FKBP15	114989977	0.980000	0.34600	1.000000	0.80357	0.993000	0.82548	1.709000	0.37909	2.828000	0.97474	0.655000	0.94253	CTC	G|0.890;A|0.110	0.110	strong		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		A	115950156	G	A	115950156	3	1	23	1	0	0	0	0	1	0	0	0	5905	971	34	2	2419	2	FKBP15	9	115950156	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	297320	115950156	25263275	2359	18815										
PRPF4	9128	hgsc.bcm.edu	37	chr9	116045007	116045007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaagtctaaaaagtccaaAgaagaggtagaacatgtctt	10	5	2	4	rs148684386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116045007A>C	ENST00000374198.4	+	4	579	c.477A>C	c.(475-477)aaA>aaC	p.K159N	PRPF4_ENST00000374199.4_Missense_Mutation_p.K158N|PRPF4_ENST00000488937.1_3'UTR	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	159					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AAAAGTCCAAAGAAGAGGTAG	0.348																																					p.K159N		Atlas-SNP	.											.	PRPF4	56	.	0			c.A477C						PASS	.	A	ASN/LYS	1,4405	2.1+/-5.4	0,1,2202	78	76	77		477	3.5	1	9	dbSNP_134	77	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PRPF4	NM_004697.3	94	0,4,6499	CC,CA,AA		0.0349,0.0227,0.0308	benign	159/523	116045007	4,13002	2203	4300	6503	SO:0001583	missense	9128	exon4			GTCCAAAGAAGAG	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.477A>C	9.37:g.116045007A>C	ENSP00000363313:p.Lys159Asn	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	127	61	0.480315	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901787	0.33535	2.27E-4	3.49E-4	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.63417	-0.04;0.01	5.9	3.5	0.40072	.	0.381275	0.33005	N	0.005394	T	0.45054	0.1323	L	0.29908	0.895	0.44012	D	0.996725	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.22521	-1.0214	10	0.35671	T	0.21	.	6.3671	0.21461	0.7403:0.1367:0.123:0.0	.	174;159	Q59EL4;O43172	.;PRP4_HUMAN	N	158;159	ENSP00000363315:K158N;ENSP00000363313:K159N	ENSP00000363313:K159N	K	+	3	2	PRPF4	115084828	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.947000	0.40293	0.462000	0.27095	0.460000	0.39030	AAA	A|0.999;C|0.001	0.001	strong		0.348	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		C	116045007	A	C	116045007	3	2	23	1	0	0	0	0	1	0	0	0	12570	69	3	5	491	5	PRPF4	9	116045007	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	94851	116045007	25168424	2360	18816										
BSPRY	54836	hgsc.bcm.edu	37	chr9	116132092	116132092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctggatggtgaatgtccaGaacagttgtgcctataaggt	13	7	0	2	rs818711	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116132092G>C	ENST00000374183.4	+	6	918	c.879G>C	c.(877-879)caG>caC	p.Q293H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	293	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Q -> H (in dbSNP:rs818711).		calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGAATGTCCAGAACAGTTGTG	0.622													G|||	301	0.0601038	0.0045	0.0476	5008	,	,		18997	0.0734		0.0646	False		,,,				2504	0.1258				p.Q293H		Atlas-SNP	.											.	BSPRY	21	.	0			c.G879C						PASS	.	G	HIS/GLN	56,4062		0,56,2003	59	62	61		879	1.5	1	9	dbSNP_86	61	485,7871		17,451,3710	yes	missense	BSPRY	NM_017688.2	24	17,507,5713	CC,CG,GG		5.8042,1.3599,4.337	benign	293/403	116132092	541,11933	2059	4178	6237	SO:0001583	missense	54836	exon6			TGTCCAGAACAGT	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.879G>C	9.37:g.116132092G>C	ENSP00000363298:p.Gln293His	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	114	40	0.350877	NM_017688	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	CCDS43868.1	114	0.0521978021978022	3	0.006097560975609756	18	0.049723756906077346	46	0.08041958041958042	47	0.06200527704485488	G	12.03	1.814651	0.32053	0.013599	0.058042	ENSG00000119411	ENST00000374183	T	0.13901	2.55	5.54	1.49	0.22878	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.273375	0.41938	N	0.000784	T	0.00468	0.0015	L	0.34521	1.04	0.39021	P	0.040259000000000045	B	0.14012	0.009	B	0.11329	0.006	T	0.10706	-1.0618	9	0.72032	D	0.01	-11.3344	4.8002	0.13292	0.3242:0.1496:0.5262:0.0	rs818711;rs3750530;rs17765453;rs52795781;rs818711	293	Q5W0U4	BSPRY_HUMAN	H	293	ENSP00000363298:Q293H	ENSP00000363298:Q293H	Q	+	3	2	BSPRY	115171913	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	0.918000	0.28678	0.255000	0.21593	0.561000	0.74099	CAG	G|0.930;C|0.070	0.070	strong		0.622	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		C	116132092	G	C	116132092	3	2	23	1	0	0	0	0	1	0	0	0	1532	933	33	4	901	4	BSPRY	9	116132092	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	87085	116132092	25081339	2361	18817										
HDHD3	81932	hgsc.bcm.edu	37	chr9	116136262	116136262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtctcagaccccgtgtgcGgcactccctcagggtgtcct	11	16	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116136262G>A	ENST00000238379.5	-	2	1270	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	HDHD3_ENST00000374180.3_Missense_Mutation_p.R125C|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	125						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CCCCGTGTGCGGCACTCCCTC	0.597																																					p.R125C		Atlas-SNP	.											.	HDHD3	10	.	0			c.C373T						PASS	.						120	127	125					9																	116136262		2203	4300	6503	SO:0001583	missense	81932	exon2			GTGTGCGGCACTC	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.373C>T	9.37:g.116136262G>A	ENSP00000238379:p.Arg125Cys	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	145	75	0.517241	NM_031219	B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529009	0.44969	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.06687	3.27;3.27	5.76	5.76	0.90799	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.421114	0.26963	N	0.021610	T	0.34861	0.0912	M	0.92507	3.315	0.53688	D	0.999974	D	0.89917	1.0	P	0.62089	0.898	T	0.34775	-0.9815	10	0.87932	D	0	-14.3793	13.8598	0.63552	0.0:0.0:0.8475:0.1525	.	125	Q9BSH5	HDHD3_HUMAN	C	125	ENSP00000238379:R125C;ENSP00000363295:R125C	ENSP00000238379:R125C	R	-	1	0	HDHD3	115176083	0.955000	0.32602	0.998000	0.56505	0.238000	0.25445	1.482000	0.35486	2.721000	0.93114	0.655000	0.94253	CGC	.	.	none		0.597	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		A	116136262	G	A	116136262	3	1	23	1	0	0	0	0	1	0	0	0	7024	1116	39	1	386	1	HDHD3	9	116136262	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4170	116136262	25077169	2362	18818										
ALAD	210	hgsc.bcm.edu	37	chr9	116153891	116153891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagcatctcttccagccgCttcacaccatacctgtgtgg	7	16	3	0	rs1800435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116153891C>G	ENST00000409155.3	-	4	373	c.177G>C	c.(175-177)aaG>aaC	p.K59N	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Missense_Mutation_p.K42N	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	59			K -> N (in allele ALAD*2; 10% of population; fully active octamer; dbSNP:rs1800435). {ECO:0000269|PubMed:1716854, ECO:0000269|Ref.5}.		cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CTTCCAGCCGCTTCACACCAT	0.577													G|||	318	0.0634984	0.0023	0.0533	5008	,	,		19212	0.0397		0.0825	False		,,,				2504	0.1585				p.K59N		Atlas-SNP	.											.	ALAD	36	.	0			c.G177C	GRCh37	CM057644	ALAD	M	rs1800435	PASS	.	G	ASN/LYS	66,4340	819.9+/-416.4	0,66,2137	72	67	69	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	177	3.6	1	9	dbSNP_89	69	717,7883	786.5+/-407.6	33,651,3616	yes	missense	ALAD	NM_000031.5	94	33,717,5753	GG,GC,CC		8.3372,1.498,6.0203	benign	59/331	116153891	783,12223	2203	4300	6503	SO:0001583	missense	210	exon4			CAGCCGCTTCACA	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.177G>C	9.37:g.116153891C>G	ENSP00000386284:p.Lys59Asn	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	143	60	0.41958	NM_000031	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	CCDS6794.2	102	0.046703296703296704	1	0.0020325203252032522	20	0.055248618784530384	27	0.0472027972027972	54	0.0712401055408971	G	2.241	-0.373809	0.05034	0.01498	0.083372	ENSG00000148218	ENST00000409155;ENST00000277315;ENST00000448137	D;D;D	0.86562	-2.14;-2.14;-2.14	5.65	3.56	0.40772	Aldolase-type TIM barrel (1);	0.040549	0.85682	N	0.000000	T	0.05593	0.0147	N	0.00300	-1.685	0.19575	N	0.999965	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38286	-0.9668	10	0.07325	T	0.83	-9.5195	6.9633	0.24610	0.0774:0.129:0.6608:0.1328	rs1800435;rs11556129;rs17766140	59;42;88	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	N	59;42;68	ENSP00000386284:K59N;ENSP00000277315:K42N;ENSP00000392748:K68N	ENSP00000277315:K42N	K	-	3	2	ALAD	115193712	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	1.925000	0.40074	1.399000	0.46721	-0.120000	0.15030	AAG	C|0.938;G|0.062	0.062	strong		0.577	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		G	116153891	C	G	116153891	3	3	23	1	0	0	0	0	1	0	0	0	483	796	28	4	851	4	ALAD	9	116153891	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17629	116153891	25059540	2363	18819										
RGS3	5998	hgsc.bcm.edu	37	chr9	116346118	116346118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catccaggaatcccccacccGggaccttccaccctgtcaag	7	19	1	0	rs41305473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116346118G>A	ENST00000374140.2	+	21	2635	c.2426G>A	c.(2425-2427)cGg>cAg	p.R809Q	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.R809Q|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Missense_Mutation_p.R130Q|RGS3_ENST00000343817.5_Missense_Mutation_p.R528Q|RGS3_ENST00000374134.3_Missense_Mutation_p.R130Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	809	Pro-rich.		R -> Q (in dbSNP:rs41305473).		inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCCCACCCGGGACCTTCCA	0.617													g|||	428	0.0854633	0.18	0.0692	5008	,	,		17267	0.0		0.1034	False		,,,				2504	0.0389				p.R809Q		Atlas-SNP	.											.	RGS3	251	.	0			c.G2426A						PASS	.	G	GLN/ARG,GLN/ARG,,GLN/ARG	803,3603	322.9+/-297.8	85,633,1485	128	142	137		389,1583,,2426	2.6	1	9	dbSNP_127	137	900,7700	200.7+/-244.4	40,820,3440	yes	missense,missense,intron,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4	43,43,,43	125,1453,4925	AA,AG,GG		10.4651,18.2251,13.094	benign,benign,,benign	130/520,528/918,,809/1199	116346118	1703,11303	2203	4300	6503	SO:0001583	missense	5998	exon21			CCACCCGGGACCT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2426G>A	9.37:g.116346118G>A	ENSP00000363255:p.Arg809Gln	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	102	41	0.401961	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	190	0.08699633699633699	82	0.16666666666666666	28	0.07734806629834254	0	0.0	80	0.10554089709762533	g	4.500	0.092706	0.08632	0.182251	0.104651	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.55760	1.0;1.0;0.5;0.51;0.51	4.97	2.57	0.30868	.	0.286735	0.28914	N	0.013727	T	0.00039	0.0001	N	0.01874	-0.695	0.09310	P	0.999999999897227	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.14896	-1.0456	9	0.05525	T	0.97	.	2.2403	0.04018	0.5987:0.1609:0.0857:0.1548	rs41305473;rs61754069	148;705;130;528;699;809	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	Q	809;809;528;130;130	ENSP00000363255:R809Q;ENSP00000259406:R809Q;ENSP00000340284:R528Q;ENSP00000420356:R130Q;ENSP00000363249:R130Q	ENSP00000340284:R528Q	R	+	2	0	RGS3	115385939	0.847000	0.29606	0.953000	0.39169	0.214000	0.24535	0.807000	0.27140	0.424000	0.26061	-0.285000	0.09966	CGG	G|0.884;A|0.116	0.116	strong		0.617	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116346118	G	A	116346118	3	1	23	1	0	0	0	0	1	0	0	0	13306	1116	39	1	2757	1	RGS3	9	116346118	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	192227	116346118	24867313	2364	18820										
ZNF618	114991	hgsc.bcm.edu	37	chr9	116810204	116810204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaacattgcctccaaccaGtcccgatcgccacctgctgt	6	17	0	0	rs12378906	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116810204G>A	ENST00000374126.5	+	14	1377	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.Q333Q			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTCCAACCAGTCCCGATCGC	0.532													G|||	329	0.0656949	0.1203	0.0605	5008	,	,		21014	0.0		0.0885	False		,,,				2504	0.0399				p.Q333Q		Atlas-SNP	.											.	ZNF618	184	.	0			c.G999A						PASS	.	G		467,3649		17,433,1608	75	78	77		999	3.6	1	9	dbSNP_120	77	715,7715		33,649,3533	yes	coding-synonymous	ZNF618	NM_133374.2		50,1082,5141	AA,AG,GG		8.4816,11.346,9.4213		333/862	116810204	1182,11364	2058	4215	6273	SO:0001819	synonymous_variant	114991	exon13			CAACCAGTCCCGA	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1278G>A	9.37:g.116810204G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	132	56	0.424242	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				G|0.927;A|0.073	0.073	strong		0.532	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116810204	G	A	116810204	2	1	23	1	0	0	0	0	0	0	0	1	18039	1020	36	2		2	ZNF618	9	116810204	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	464086	116810204	24403227	2365	18821										
ZNF618	114991	hgsc.bcm.edu	37	chr9	116812084	116812084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggtctgtgagctcatcaaCgaggtgaaggagtcctgggc	15	8	3	2	rs7856141	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116812084C>T	ENST00000374126.5	+	15	2601	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.N741N			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	834					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGCTCATCAACGAGGTGAAGG	0.637													C|||	339	0.0676917	0.1271	0.0605	5008	,	,		19158	0.0		0.0895	False		,,,				2504	0.0399				p.N741N		Atlas-SNP	.											.	ZNF618	184	.	0			c.C2223T						PASS	.	C		488,3642		20,448,1597	61	68	65		2223	-11.3	0.1	9	dbSNP_116	65	707,7651		34,639,3506	no	coding-synonymous	ZNF618	NM_133374.2		54,1087,5103	TT,TC,CC		8.459,11.816,9.5692		741/862	116812084	1195,11293	2065	4179	6244	SO:0001819	synonymous_variant	114991	exon14			CATCAACGAGGTG	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2502C>T	9.37:g.116812084C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				C|0.923;T|0.077	0.077	strong		0.637	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116812084	C	T	116812084	2	4	23	1	0	0	0	0	0	0	0	1	18039	535	19	1		1	ZNF618	9	116812084	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1880	116812084	24401347	2366	18822										
COL27A1	85301	hgsc.bcm.edu	37	chr9	116931666	116931666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacgagcagtggctattcgAtcttccacctggcaggatct	10	13	2	0	rs2567705	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:116931666A>T	ENST00000356083.3	+	3	2222	c.1831A>T	c.(1831-1833)Atc>Ttc	p.I611F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	611	Pro-rich.		I -> F (in dbSNP:rs2567705). {ECO:0000269|PubMed:15489334}.		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGCTATTCGATCTTCCACCT	0.647													T|||	1457	0.290935	0.3654	0.2795	5008	,	,		16947	0.1151		0.4215	False		,,,				2504	0.2454				p.I611F		Atlas-SNP	.											.	COL27A1	200	.	0			c.A1831T						PASS	.	T	PHE/ILE	1664,2742	652.9+/-399.5	313,1038,852	59	66	64		1831	4.7	0.7	9	dbSNP_100	64	3368,5232	639.6+/-399.5	666,2036,1598	yes	missense	COL27A1	NM_032888.2	21	979,3074,2450	TT,TA,AA		39.1628,37.7667,38.6898	benign	611/1861	116931666	5032,7974	2203	4300	6503	SO:0001583	missense	85301	exon3			TATTCGATCTTCC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1831A>T	9.37:g.116931666A>T	ENSP00000348385:p.Ile611Phe	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	64	24	0.375	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	657	0.3008241758241758	180	0.36585365853658536	114	0.3149171270718232	58	0.10139860139860139	305	0.4023746701846966	T	11.39	1.623941	0.28889	0.377667	0.391628	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.96136	-3.92;-2.73	4.66	4.66	0.58398	.	.	.	.	.	T	0.00012	0.0000	N	0.00926	-1.1	0.48087	P	4.1400000000002546E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27262	-1.0079	8	0.02654	T	1	.	7.5893	0.28012	0.1893:0.0:0.0:0.8107	rs2567705;rs17801180;rs59019220;rs2567705	611;558	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	F	611;611;558;558	ENSP00000348385:I611F;ENSP00000391328:I558F	ENSP00000348385:I611F	I	+	1	0	COL27A1	115971487	0.777000	0.28628	0.708000	0.30435	0.682000	0.39822	0.927000	0.28818	0.823000	0.34589	-0.364000	0.07487	ATC	A|0.648;T|0.352	0.352	strong		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931666	A	T	116931666	3	4	23	1	0	0	0	0	1	0	0	0	3685	333	12	5	1841	5	COL27A1	9	116931666	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	119582	116931666	24281765	2367	18823										
COL27A1	85301	hgsc.bcm.edu	37	chr9	117050998	117050998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagggccctgtgggtgatcGaggagaccgcggggaaccgg	19	10	1	2	rs10982134	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:117050998G>A	ENST00000356083.3	+	43	4452	c.4061G>A	c.(4060-4062)cGa>cAa	p.R1354Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1354	Collagen-like 12.|Pro-rich.|Triple-helical region.		R -> Q (in dbSNP:rs10982134).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGGGTGATCGAGGAGACCGC	0.622													G|||	2122	0.423722	0.2436	0.4467	5008	,	,		16464	0.629		0.2922	False		,,,				2504	0.5746				p.R1354Q		Atlas-SNP	.											COL27A1,NS,carcinoma,+1,1	COL27A1	200	1	0			c.G4061A						PASS	.	G	GLN/ARG	1136,3270	403.5+/-332.8	151,834,1218	64	68	67		4061	1.8	1	9	dbSNP_120	67	2772,5828	439.0+/-359.1	449,1874,1977	yes	missense	COL27A1	NM_032888.2	43	600,2708,3195	AA,AG,GG		32.2326,25.783,30.0477	benign	1354/1861	117050998	3908,9098	2203	4300	6503	SO:0001583	missense	85301	exon43			GTGATCGAGGAGA	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4061G>A	9.37:g.117050998G>A	ENSP00000348385:p.Arg1354Gln	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	129	56	0.434109	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	843	0.385989010989011	116	0.23577235772357724	146	0.40331491712707185	357	0.6241258741258742	224	0.2955145118733509	G	13.36	2.214824	0.39102	0.25783	0.322326	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.90788	-2.73	4.77	1.84	0.25277	.	.	.	.	.	T	0.00012	0.0000	N	0.17474	0.49	0.27045	P	0.9639178	B	0.16166	0.016	B	0.09377	0.004	T	0.42103	-0.9471	8	0.10902	T	0.67	.	7.1776	0.25753	0.1735:0.1452:0.6813:0.0	rs10982134;rs56444233;rs59519437;rs10982134	1354	Q8IZC6	CORA1_HUMAN	Q	1354	ENSP00000348385:R1354Q	ENSP00000348385:R1354Q	R	+	2	0	COL27A1	116090819	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.987000	0.40687	0.544000	0.28883	0.491000	0.48974	CGA	G|0.655;A|0.345	0.345	strong		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	117050998	G	A	117050998	3	1	23	1	0	0	0	0	1	0	0	0	3685	1058	37	1	4231	1	COL27A1	9	117050998	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	119332	117050998	24162433	2368	18824										
AKNA	80709	hgsc.bcm.edu	37	chr9	117124731	117124731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccccttggagccggcaagcGgctgggcagggtgttgctcc	16	13	0	0	rs3748176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:117124731G>A	ENST00000307564.4	-	8	2032	c.1871C>T	c.(1870-1872)cCg>cTg	p.P624L	AKNA_ENST00000223791.3_Missense_Mutation_p.P84L|AKNA_ENST00000374075.5_Missense_Mutation_p.P543L|AKNA_ENST00000312033.3_Missense_Mutation_p.P624L|AKNA_ENST00000374088.3_Missense_Mutation_p.P624L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	624			P -> L (in dbSNP:rs3748176). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:14702039}.		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P624L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCGGCAAGCGGCTGGGCAGG	0.657													g|||	1924	0.384185	0.115	0.4798	5008	,	,		16480	0.3869		0.506	False		,,,				2504	0.5521				p.P624L		Atlas-SNP	.											AKNA,NS,carcinoma,0,1	AKNA	119	1	1	Substitution - Missense(1)	stomach(1)	c.C1871T						PASS	.		LEU/PRO	828,3578	320.2+/-296.5	83,662,1458	30	35	33		1871	-0.4	0	9	dbSNP_107	33	4570,4030	582.2+/-391.4	1195,2180,925	yes	missense	AKNA	NM_030767.4	98	1278,2842,2383	AA,AG,GG		46.8605,18.7926,41.5039	possibly-damaging	624/1440	117124731	5398,7608	2203	4300	6503	SO:0001583	missense	80709	exon8			GCAAGCGGCTGGG	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1871C>T	9.37:g.117124731G>A	ENSP00000303769:p.Pro624Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	57	28	0.491228	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	833	0.3814102564102564	55	0.11178861788617886	179	0.494475138121547	218	0.3811188811188811	381	0.5026385224274407	g	10.14	1.267287	0.23136	0.187926	0.531395	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.7	-0.371	0.12525	.	0.691128	0.12739	N	0.443148	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	P;B	0.38110	0.618;0.072	B;B	0.31946	0.138;0.009	T	0.44847	-0.9301	9	0.07990	T	0.79	-4.3767	4.4668	0.11692	0.0:0.1894:0.3545:0.4561	rs3748176;rs3748176	624;543	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	624;465;624;84;543;624	ENSP00000303769:P624L;ENSP00000363201:P624L;ENSP00000223791:P84L;ENSP00000363188:P543L;ENSP00000309222:P624L	ENSP00000223791:P84L	P	-	2	0	AKNA	116164552	0.048000	0.20356	0.001000	0.08648	0.003000	0.03518	0.347000	0.20014	-0.219000	0.10003	-0.422000	0.05995	CCG	G|0.599;A|0.401	0.401	strong		0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117124731	G	A	117124731	3	1	23	1	0	0	0	0	1	0	0	0	463	1116	39	1	2508	1	AKNA	9	117124731	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	73733	117124731	24088700	2369	18825										
DFNB31	25861	hgsc.bcm.edu	37	chr9	117166206	117166206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccatctgtgggcctctcGttccgaggcagctccttgct	11	16	2	0	rs2274158	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:117166206G>T	ENST00000362057.3	-	10	2556	c.2388C>A	c.(2386-2388)aaC>aaA	p.N796K	DFNB31_ENST00000265134.6_Missense_Mutation_p.N413K|DFNB31_ENST00000374059.3_Missense_Mutation_p.N445K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	796			N -> K (in dbSNP:rs2274158).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCCTCTCGTTCCGAGGCA	0.652													G|||	1114	0.222444	0.0507	0.3213	5008	,	,		18204	0.3472		0.2167	False		,,,				2504	0.2618				p.N796K		Atlas-SNP	.											.	DFNB31	100	.	0			c.C2388A						PASS	.	G	LYS/ASN,LYS/ASN,LYS/ASN	353,4053	182.6+/-210.3	11,331,1861	115	100	105	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1239,2385,2388	-7.5	0	9	dbSNP_100	105	1987,6613	346.0+/-326.0	213,1561,2526	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	94,94,94	224,1892,4387	TT,TG,GG		23.1047,8.0118,17.9917	benign,benign,benign	413/525,795/907,796/908	117166206	2340,10666	2203	4300	6503	SO:0001583	missense	25861	exon10			CCTCTCGTTCCGA	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2388C>A	9.37:g.117166206G>T	ENSP00000354623:p.Asn796Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	55	32	0.581818	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	512	0.23443223443223443	31	0.06300813008130081	109	0.3011049723756906	207	0.3618881118881119	165	0.21767810026385223	G	2.127	-0.399968	0.04865	0.080118	0.231047	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.06371	4.2;4.18;3.31	5.03	-7.49	0.01355	PDZ/DHR/GLGF (1);	0.596241	0.16860	N	0.196549	T	0.00012	0.0000	L	0.29908	0.895	0.27905	P	0.9388432	B;B;B	0.17667	0.01;0.013;0.023	B;B;B	0.24155	0.005;0.005;0.051	T	0.43893	-0.9363	9	0.16420	T	0.52	-6.4945	4.6597	0.12636	0.5065:0.2391:0.1757:0.0786	rs2274158;rs58851791;rs2274158	795;796;445	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	K	413;445;796	ENSP00000265134:N413K;ENSP00000363172:N445K;ENSP00000354623:N796K	ENSP00000265134:N413K	N	-	3	2	DFNB31	116206027	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.700000	0.00824	-1.629000	0.01546	-1.523000	0.00931	AAC	G|0.796;T|0.204	0.204	strong		0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117166206	G	T	117166206	3	4	23	1	0	0	0	0	1	0	0	0	4455	1136	40	4	347	4	DFNB31	9	117166206	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41475	117166206	24047225	2370	18826										
DFNB31	25861	hgsc.bcm.edu	37	chr9	117186712	117186712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggtagtaggccatggtggCgtgttcctgctcgttcagca	14	10	1	0	rs4978584	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:117186712C>T	ENST00000362057.3	-	6	1486	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	DFNB31_ENST00000265134.6_Missense_Mutation_p.A57T|DFNB31_ENST00000374059.3_Missense_Mutation_p.A89T	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	440			A -> T (in dbSNP:rs4978584).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCATGGTGGCGTGTTCCTGC	0.647													c|||	1143	0.228235	0.0552	0.366	5008	,	,		16701	0.3383		0.2117	False		,,,				2504	0.2679				p.A440T		Atlas-SNP	.											DFNB31,colon,carcinoma,0,1	DFNB31	100	1	0			c.G1318A						scavenged	.	T	THR/ALA,THR/ALA,THR/ALA	366,4040	187.4+/-214.1	11,344,1848	88	67	74	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	169,1318,1318	3.7	0.9	9	dbSNP_111	74	1975,6625	346.7+/-326.3	206,1563,2531	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	58,58,58	217,1907,4379	TT,TC,CC		22.9651,8.3069,17.9994	benign,benign,benign	57/525,440/907,440/908	117186712	2341,10665	2203	4300	6503	SO:0001583	missense	25861	exon6			TGGTGGCGTGTTC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1318G>A	9.37:g.117186712C>T	ENSP00000354623:p.Ala440Thr	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	170	70	0.411765	NM_001173425	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	519	0.23763736263736263	31	0.06300813008130081	124	0.3425414364640884	204	0.35664335664335667	160	0.21108179419525067	c	14.77	2.634648	0.47049	0.083069	0.229651	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.08807	3.96;3.94;3.05	5.49	3.67	0.42095	.	0.333730	0.33591	N	0.004742	T	0.00012	0.0000	L	0.54908	1.71	0.09310	P	0.9999999999998859	B;B;B	0.13145	0.007;0.007;0.006	B;B;B	0.14023	0.002;0.002;0.01	T	0.46373	-0.9196	9	0.29301	T	0.29	-26.1527	9.6473	0.39875	0.0:0.7871:0.0:0.2129	rs4978584;rs52803964;rs61211333;rs4978584	440;440;89	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	T	57;89;440	ENSP00000265134:A57T;ENSP00000363172:A89T;ENSP00000354623:A440T	ENSP00000265134:A57T	A	-	1	0	DFNB31	116226533	0.990000	0.36364	0.919000	0.36401	0.787000	0.44495	2.536000	0.45693	0.818000	0.34468	-0.215000	0.12644	GCC	C|0.802;T|0.198	0.198	strong		0.647	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117186712	C	T	117186712	3	4	23	1	0	0	0	0	1	0	0	0	4455	768	27	1	1433	1	DFNB31	9	117186712	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20506	117186712	24026719	2371	18827										
DFNB31	25861	hgsc.bcm.edu	37	chr9	117266965	117266965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgcttggtgcagctggcgCacgttggcagacagtaaccg	15	11	0	1	rs2297815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:117266965C>T	ENST00000362057.3	-	1	285	c.117G>A	c.(115-117)gtG>gtA	p.V39V	DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000374057.3_Silent_p.V39V|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	39					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGCTGGCGCACGTTGGCAG	0.736													C|||	1280	0.255591	0.2231	0.3256	5008	,	,		9043	0.1389		0.4016	False		,,,				2504	0.2198				p.V39V		Atlas-SNP	.											.	DFNB31	100	.	0			c.G117A						PASS	.	C	,	1053,3341		130,793,1274	24	18	20	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	117,117	5.3	1	9	dbSNP_100	20	3136,5450		571,1994,1728	no	coding-synonymous,coding-synonymous	DFNB31	NM_001173425.1,NM_015404.3	,	701,2787,3002	TT,TC,CC		36.5246,23.9645,32.2727	,	39/907,39/908	117266965	4189,8791	2197	4293	6490	SO:0001819	synonymous_variant	25861	exon1			CTGGCGCACGTTG	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.117G>A	9.37:g.117266965C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	22	13	0.590909	NM_001173425	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																			C|0.706;T|0.294	0.294	strong		0.736	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117266965	C	T	117266965	2	4	23	1	0	0	0	0	0	0	0	1	4455	697	25	2		2	DFNB31	9	117266965	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	80253	117266965	23946466	2372	18828										
ASTN2	23245	hgsc.bcm.edu	37	chr9	119770495	119770495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggccgggtttaaccagtcGgagatgtccaggtagctccc	13	11	0	1	rs61736198	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:119770495G>A	ENST00000313400.4	-	7	1567	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	ASTN2_ENST00000373996.3_Silent_p.S489S|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.S438S			O75129	ASTN2_HUMAN	astrotactin 2	489					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTAACCAGTCGGAGATGTCCA	0.512													G|||	38	0.00758786	0.0008	0.0058	5008	,	,		20493	0.0159		0.0089	False		,,,				2504	0.0082				p.S438S		Atlas-SNP	.											.	ASTN2	307	.	0			c.C1314T						PASS	.	G		8,4398	14.3+/-33.2	0,8,2195	112	96	101		1314	-9.3	0.4	9	dbSNP_129	101	42,8558	28.5+/-78.6	1,40,4259	no	coding-synonymous	ASTN2	NM_014010.4		1,48,6454	AA,AG,GG		0.4884,0.1816,0.3844		438/1289	119770495	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	23245	exon6			CCAGTCGGAGATG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1467C>T	9.37:g.119770495G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	225	101	0.448889	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				G|0.994;A|0.006	0.006	strong		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		A	119770495	G	A	119770495	2	1	23	1	0	0	0	0	0	0	0	1	1065	1103	39	1		1	ASTN2	9	119770495	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2503530	119770495	21442936	2373	18829										
OR1J2	26740	hgsc.bcm.edu	37	chr9	125273385	125273386	+	Frame_Shift_Ins	INS	-	-	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatgcatttctcagatgtaINStttttttatattttttactg					rs145911830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:125273385_125273386insT	ENST00000335302.5	+	1	305_306	c.305_306insT	c.(304-309)tattttfs	p.YF102fs		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCAGATGTATTTTTTTATAT	0.401													TTTTTTT|TTTTTTT|TTTTTTTT|insertion	273	0.0545128	0.0681	0.0591	5008	,	,		23759	0.002		0.0974	False		,,,				2504	0.0429				p.Y102fs		Pindel,Atlas-Indel	.											.	OR1J2	64	.	0			c.305_306insT						PASS	.																																			SO:0001589	frameshift_variant	26740	exon1			.		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.312dupT	9.37:g.125273392_125273392dupT	ENSP00000335575:p.Tyr102fs	Somatic	135	.	.		WXS	Illumina HiSeq	Phase_I	140	36	0.257	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Frame_Shift_Ins	INS	ENST00000335302.5	37	CCDS35121.1																																																																																			-|0.940;T|0.060	0.060	strong		0.401	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			T	125273386	-	T	125273385	7	5	23	1	0	1	1	0	0	0	0	0	10960	449	16	0	307	0	OR1J2	9	125273385	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	5502890	125273385	15940046	2374	18830										
OR1N2	138882	hgsc.bcm.edu	37	chr9	125316028	125316028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagaaagccatccctcatTtctattgtgatcctagtgct	6	13	2	2	rs41297203	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:125316028T>C	ENST00000373688.2	+	1	638	c.580T>C	c.(580-582)Ttc>Ctc	p.F194L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CATCCCTCATTTCTATTGTGA	0.527													T|||	247	0.0493211	0.0741	0.0562	5008	,	,		18342	0.002		0.0934	False		,,,				2504	0.0143				p.F194L		Atlas-SNP	.											.	OR1N2	51	.	0			c.T580C						PASS	.	T	LEU/PHE	288,4118	160.7+/-193.0	8,272,1923	156	144	148		580	4.4	0.9	9	dbSNP_127	148	833,7767	192.4+/-238.4	39,755,3506	yes	missense	OR1N2	NM_001004457.1	22	47,1027,5429	CC,CT,TT		9.686,6.5365,8.6191	probably-damaging	194/331	125316028	1121,11885	2203	4300	6503	SO:0001583	missense	138882	exon1			CCTCATTTCTATT		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.580T>C	9.37:g.125316028T>C	ENSP00000362792:p.Phe194Leu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	175	83	0.474286	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	133	0.060897435897435896	41	0.08333333333333333	25	0.06906077348066299	1	0.0017482517482517483	66	0.0870712401055409	T	17.40	3.378882	0.61735	0.065365	0.09686	ENSG00000171501	ENST00000373688	T	0.00346	8.01	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000143	T	0.00039	0.0001	L	0.60957	1.885	0.36795	P	0.11497299999999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73020	-0.4114	9	0.87932	D	0	.	12.917	0.58211	0.0:0.0:0.0:1.0	rs41297203	194	Q8NGR9	OR1N2_HUMAN	L	194	ENSP00000362792:F194L	ENSP00000362792:F194L	F	+	1	0	OR1N2	124355849	0.001000	0.12720	0.878000	0.34440	0.943000	0.58893	0.634000	0.24614	1.869000	0.54173	0.524000	0.50904	TTC	T|0.920;C|0.080	0.080	strong		0.527	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			C	125316028	T	C	125316028	3	2	23	1	0	0	0	0	1	0	0	0	10970	1841	64	2	582	2	OR1N2	9	125316028	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	42643	125316028	15897403	2375	18831										
OR1B1	347169	hgsc.bcm.edu	37	chr9	125391770	125391771	+	Frame_Shift_Ins	INS	-	-	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcgagaacccaaggagcINSaaaaaaaccggagagtgtga					rs398102330|rs78126045|rs11421222	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:125391770_125391771insA	ENST00000304833.3	-	1	81_82	c.44_45insT	c.(43-45)ttgfs	p.L15fs	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACCCAAGGAGCAAAAAAACCGG	0.475													?|AAAAAAA|AAAAAAAA|unsure	2046	0.408546	0.3888	0.2954	5008	,	,		22113	0.3383		0.504	False		,,,				2504	0.4898				p.L15fs		Pindel,Atlas-Indel	.											.	OR1B1	48	.	0			c.45_46insT						PASS	.			1831,2421		393,1045,688						-0.3	0.5		dbSNP_134	87	4104,4128		1026,2052,1038	no	frameshift	OR1B1	NM_001004450.1		1419,3097,1726	A1A1,A1R,RR		49.8542,43.0621,47.5409				5935,6549				SO:0001589	frameshift_variant	347169	exon1			.	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.45dupT	9.37:g.125391777_125391777dupA	ENSP00000303151:p.Leu15fs	Somatic	60	.	.		WXS	Illumina HiSeq	Phase_I	78	21	0.269	NM_001004450	Q6IFN3	Frame_Shift_Ins	INS	ENST00000304833.3	37	CCDS35126.1																																																																																			-|0.589;A|0.411	0.411	strong		0.475	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		A	125391771	-	A	125391770	7	5	23	1	0	1	1	0	0	0	0	0	10951	709	25	0	914	0	OR1B1	9	125391770	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	75742	125391770	15821661	2376	18832										
OR1K1	392392	hgsc.bcm.edu	37	chr9	125562527	125562527	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgtggccagcctcctgggTaatggactcattgtggctgc	13	10	1	0	rs10985782	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:125562527T>C	ENST00000277309.2	+	1	158	c.126T>C	c.(124-126)ggT>ggC	p.G42G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G42G(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCTCCTGGGTAATGGACTCA	0.547													t|||	608	0.121406	0.1687	0.1282	5008	,	,		20797	0.0486		0.1282	False		,,,				2504	0.1207				p.G42G		Atlas-SNP	.											OR1K1,NS,carcinoma,0,1	OR1K1	34	1	1	Substitution - coding silent(1)	stomach(1)	c.T126C						PASS	.	C		585,3821	257.4+/-261.8	39,507,1657	118	93	102		126	-8.8	0	9	dbSNP_120	102	1094,7506	229.1+/-263.9	64,966,3270	no	coding-synonymous	OR1K1	NM_080859.1		103,1473,4927	CC,CT,TT		12.7209,13.2773,12.9094		42/317	125562527	1679,11327	2203	4300	6503	SO:0001819	synonymous_variant	392392	exon1			CCTGGGTAATGGA	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.126T>C	9.37:g.125562527T>C		Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	249	129	0.518072	NM_080859	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																			T|0.876;C|0.124	0.124	strong		0.547	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			C	125562527	T	C	125562527	2	2	23	1	0	0	0	0	0	0	0	1	10962	1625	57	2		2	OR1K1	9	125562527	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	170757	125562527	15650904	2377	18833										
LHX2	9355	hgsc.bcm.edu	37	chr9	126783433	126783433	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccgtgaccagccatacccGagcagccagaagaccaagcg	11	15	0	3	rs1042486	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:126783433G>C	ENST00000373615.4	+	4	1522	c.783G>C	c.(781-783)ccG>ccC	p.P261P		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	261					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AGCCATACCCGAGCAGCCAGA	0.592													G|||	1798	0.359026	0.1846	0.4712	5008	,	,		18263	0.4286		0.4433	False		,,,				2504	0.3569				p.P261P		Atlas-SNP	.											.	LHX2	30	.	0			c.G783C						PASS	.	G		1050,3356	384.0+/-325.1	133,784,1286	106	90	95		783	-3.8	0.9	9	dbSNP_86	95	3902,4698	544.9+/-384.7	919,2064,1317	no	coding-synonymous	LHX2	NM_004789.3		1052,2848,2603	CC,CG,GG		45.3721,23.8311,38.0747		261/407	126783433	4952,8054	2203	4300	6503	SO:0001819	synonymous_variant	9355	exon4			ATACCCGAGCAGC	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.783G>C	9.37:g.126783433G>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_004789	O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	CCDS6853.1	841	0.3850732600732601	101	0.20528455284552846	160	0.4419889502762431	237	0.4143356643356643	343	0.4525065963060686	G	10.14	1.268589	0.23136	0.238311	0.453721	ENSG00000106689	ENST00000446480	.	.	.	5.39	-3.77	0.04346	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999775296	.	.	.	.	.	.	T	0.30208	-0.9986	3	.	.	.	.	12.2133	0.54391	0.071:0.6581:0.2034:0.0674	rs1042486;rs3181970;rs1042486	.	.	.	Q	267	.	.	E	+	1	0	LHX2	125823254	0.881000	0.30235	0.880000	0.34516	0.955000	0.61496	0.039000	0.13884	-1.288000	0.02378	0.561000	0.74099	GAG	G|0.625;C|0.375	0.375	strong		0.592	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			C	126783433	G	C	126783433	2	2	23	1	0	0	0	0	0	0	0	1	8771	1045	37	4		4	LHX2	9	126783433	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1220906	126783433	14429998	2378	18834										
GAPVD1	26130	hgsc.bcm.edu	37	chr9	128117027	128117027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctattgcaaagagttttgCgggacaaagaagtggccaat	13	6	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:128117027C>T	ENST00000495955.1	+	24	4008	c.3718C>T	c.(3718-3720)Cgg>Tgg	p.R1240W	GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1249W|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R1240W|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R1222W|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R1174W|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R1201W|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R1214W|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R1195W			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1240					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGAGTTTTGCGGGACAAAGA	0.428																																					p.R1249W		Atlas-SNP	.											GAPVD1,NS,carcinoma,0,2	GAPVD1	124	2	0			c.C3745T						scavenged	.						171	172	172					9																	128117027		2203	4300	6503	SO:0001583	missense	26130	exon23			GTTTTGCGGGACA		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3718C>T	9.37:g.128117027C>T	ENSP00000419063:p.Arg1240Trp	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	87	3	0.0344828	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.589767	0.86851	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.049442	0.85682	D	0.000000	T	0.73369	0.3578	L	0.52573	1.65	0.58432	D	0.999997	D;D;D;D;D;D	0.71674	0.997;0.998;0.997;0.998;0.997;0.997	P;P;P;P;P;P	0.58970	0.702;0.849;0.844;0.844;0.844;0.844	T	0.73291	-0.4029	9	0.66056	D	0.02	.	19.6603	0.95864	0.0:1.0:0.0:0.0	.	1240;255;1195;1201;1222;1249	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	W	1195;1249;1240;1214;1174;1240;1222;1201	.	ENSP00000265956:R1214W	R	+	1	2	GAPVD1	127156848	1.000000	0.71417	0.989000	0.46669	0.714000	0.41099	3.125000	0.50469	2.894000	0.99253	0.591000	0.81541	CGG	.	.	none		0.428	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			T	128117027	C	T	128117027	3	4	23	1	0	0	0	0	1	0	0	0	6239	759	27	1	3831	1	GAPVD1	9	128117027	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1333594	128117027	13096404	2379	18835										
SLC2A8	29988	hgsc.bcm.edu	37	chr9	130164993	130164993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcggttcctgtggggctcCgagcagggctgggaagaccc	17	12	0	1	rs1138739	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:130164993C>T	ENST00000373371.3	+	5	773	c.684C>T	c.(682-684)tcC>tcT	p.S228S	SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Silent_p.S228S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	228					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TGTGGGGCTCCGAGCAGGGCT	0.667													C|||	909	0.18151	0.0287	0.3905	5008	,	,		18586	0.1994		0.2495	False		,,,				2504	0.1513				p.S228S		Atlas-SNP	.											.	SLC2A8	27	.	0			c.C684T						PASS	.	C		247,4079		7,233,1923	13	13	13		684	-6.5	0.5	9	dbSNP_86	13	1703,6815		179,1345,2735	no	coding-synonymous	SLC2A8	NM_014580.3		186,1578,4658	TT,TC,CC		19.993,5.7097,15.1822		228/478	130164993	1950,10894	2163	4259	6422	SO:0001819	synonymous_variant	29988	exon5			GGGCTCCGAGCAG	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.684C>T	9.37:g.130164993C>T		Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	103	102	0.990291	NM_014580	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1	468	0.21428571428571427	18	0.036585365853658534	119	0.3287292817679558	134	0.23426573426573427	197	0.2598944591029024	C	8.232	0.804925	0.16467	0.057097	0.19993	ENSG00000136856	ENST00000419132	.	.	.	4.85	-6.51	0.01878	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999292092	.	.	.	.	.	.	T	0.25433	-1.0132	3	.	.	.	.	9.1661	0.37052	0.1166:0.2684:0.0:0.615	rs1138739;rs3202779;rs3802365;rs17425222	.	.	.	L	138	.	.	P	+	2	0	SLC2A8	129204814	0.000000	0.05858	0.475000	0.27278	0.902000	0.53008	-6.055000	0.00083	-1.115000	0.02973	-0.471000	0.05019	CCG	C|0.827;T|0.173	0.173	strong		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		T	130164993	C	T	130164993	2	4	23	1	0	0	0	0	0	0	0	1	14551	639	23	1		1	SLC2A8	9	130164993	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2047966	130164993	11048438	2380	18836										
TTC16	158248	hgsc.bcm.edu	37	chr9	130489558	130489558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgtttggcaggatgcttaaAcggcacgagttggagcgcca	14	9	0	0	rs472144	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:130489558A>G	ENST00000373289.3	+	12	1658	c.1578A>G	c.(1576-1578)aaA>aaG	p.K526K	PTRH1_ENST00000419060.1_5'Flank|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	526										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGATGCTTAAACGGCACGAGT	0.607													G|||	3098	0.61861	0.7844	0.6037	5008	,	,		21776	0.3661		0.6173	False		,,,				2504	0.6667				p.K526K		Atlas-SNP	.											TTC16,NS,carcinoma,0,1	TTC16	55	1	0			c.A1578G						PASS	.	G		3259,1147	393.3+/-328.8	1211,837,155	33	31	32		1578	1.3	0	9	dbSNP_83	32	5006,3592	506.6+/-376.6	1456,2094,749	no	coding-synonymous	TTC16	NM_144965.1		2667,2931,904	GG,GA,AA		41.7772,26.0327,36.4426		526/874	130489558	8265,4739	2203	4299	6502	SO:0001819	synonymous_variant	158248	exon12			GCTTAAACGGCAC	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1578A>G	9.37:g.130489558A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	137	136	0.992701	NM_144965	B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	CCDS6875.1																																																																																			A|0.377;G|0.623	0.623	strong		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		G	130489558	A	G	130489558	2	3	23	1	0	0	0	0	0	0	0	1	16680	40	2	2		2	TTC16	9	130489558	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	324565	130489558	10723873	2381	18837										
TOR2A	27433	hgsc.bcm.edu	37	chr9	130495633	130495633	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctctgagaagtggcccccCcactgtgcccactgcaaagc	9	17	1	1	rs564754	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:130495633C>G	ENST00000373284.5	-	3	640				TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000373281.5_Missense_Mutation_p.W208C|TOR2A_ENST00000472723.1_5'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A						chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						AGTGGCCCCCCCACTGTGCCC	0.602													C|||	3124	0.623802	0.7844	0.6081	5008	,	,		17651	0.371		0.6332	False		,,,				2504	0.6687				p.W208C		Atlas-SNP	.											.	TOR2A	26	.	0			c.G624C						PASS	.	C	,,,CYS/TRP	3267,1139	711.3+/-408.0	1215,837,151	50	49	49		,,,624	-1.4	0	9	dbSNP_83	49	5087,3513	627.7+/-398.0	1505,2077,718	yes	intron,intron,utr-3,missense	TOR2A	NM_001085347.1,NM_001134430.1,NM_001134431.1,NM_130459.2	,,,215	2720,2914,869	GG,GC,CC		40.8488,25.8511,35.7681	,,,	,,,208/254	130495633	8354,4652	2203	4300	6503	SO:0001627	intron_variant	27433	exon3			GCCCCCCCACTGT	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.593+30G>C	9.37:g.130495633C>G		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	96	95	0.989583	NM_130459	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	CCDS43879.1	1311	0.6002747252747253	382	0.7764227642276422	219	0.6049723756906077	220	0.38461538461538464	490	0.6464379947229552	C	10.73	1.432873	0.25813	0.741489	0.591512	ENSG00000160404	ENST00000373281	T	0.69040	-0.37	5.39	-1.4	0.08968	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.35475	-0.9787	7	0.38643	T	0.18	.	5.8881	0.18892	0.137:0.2686:0.5145:0.0798	rs564754;rs1755665;rs3739813;rs57276118;rs564754	208	Q5JU69-2	.	C	208	ENSP00000362378:W208C	ENSP00000362378:W208C	W	-	3	0	TOR2A	129535454	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.060000	0.03475	-0.643000	0.05473	-0.311000	0.09066	TGG	C|0.370;G|0.630	0.630	strong		0.602	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		G	130495633	C	G	130495633	1	3	23	0	1	0	0	0	0	0	0	0	16372	624	22	4		4	TOR2A	9	130495633	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6075	130495633	10717798	2382	18838										
ENG	2022	hgsc.bcm.edu	37	chr9	130605385	130605385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acactcaccgttgggaactcCaggaagaggacatggacttc	11	11	1	1	rs45605432|rs11545664	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:130605385C>T	ENST00000373203.4	-	2	607	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RNA5SP296_ENST00000410523.1_RNA|ENG_ENST00000344849.3_Silent_p.L69L	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	69	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TTGGGAACTCCAGGAAGAGGA	0.627									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				C|||	552	0.110224	0.236	0.085	5008	,	,		18695	0.0466		0.1044	False		,,,				2504	0.0297				p.L69L		Atlas-SNP	.											.	ENG	44	.	0			c.G207A						PASS	.	C	,	1109,3297	398.3+/-330.8	139,831,1233	155	158	157		207,207	4.2	1	9	dbSNP_123	157	892,7708	199.9+/-243.8	42,808,3450	no	coding-synonymous,coding-synonymous	ENG	NM_000118.2,NM_001114753.1	,	181,1639,4683	TT,TC,CC		10.3721,25.1702,15.3852	,	69/626,69/659	130605385	2001,11005	2203	4300	6503	SO:0001819	synonymous_variant	2022	exon2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	GAACTCCAGGAAG	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.207G>A	9.37:g.130605385C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_001114753	Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	CCDS48029.1																																																																																			C|0.852;T|0.148	0.148	strong		0.627	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			T	130605385	C	T	130605385	2	4	23	1	0	0	0	0	0	0	0	1	5117	581	21	2		2	ENG	9	130605385	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	109752	130605385	10608046	2383	18839										
AK1	203	hgsc.bcm.edu	37	chr9	130634103	130634103	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttgggtcagtgccttaccCgtcgctcaaactcttctcct	7	15	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:130634103C>T	ENST00000373176.1	-	5	475	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	MIR4672_ENST00000583126.1_RNA|AK1_ENST00000373156.1_Splice_Site_p.R108Q|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Splice_Site_p.R124Q	NM_000476.2	NP_000467.1			adenylate kinase 1									p.R108P(1)		endometrium(1)|prostate(1)	2						GTGCCTTACCCGTCGCTCAAA	0.602																																					p.R108Q		Atlas-SNP	.											AK1,NS,carcinoma,0,1	AK1	13	1	1	Substitution - Missense(1)	endometrium(1)	c.G323A						scavenged	.						141	119	126					9																	130634103		2203	4300	6503	SO:0001630	splice_region_variant	203	exon5			CTTACCCGTCGCT	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.324+1G>A	9.37:g.130634103C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	64	2	0.03125	NM_000476		Missense_Mutation	SNP	ENST00000373176.1	37	CCDS6881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.07|14.07	2.424940|2.424940	0.43020|0.43020	.|.	.|.	ENSG00000106992|ENSG00000106992	ENST00000413016|ENST00000373176;ENST00000373156;ENST00000223836	.|T;T;T	.|0.63580	.|-0.05;-0.05;-0.05	4.89|4.89	3.0|3.0	0.34707|0.34707	.|.	.|0.108733	.|0.64402	.|D	.|0.000008	T|T	0.31513|0.31513	0.0799|0.0799	N|N	0.02721|0.02721	-0.515|-0.515	0.40516|0.40516	D|D	0.980787|0.980787	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.07462|0.07462	-1.0771|-1.0771	5|10	.|0.23891	.|T	.|0.37	-7.6885|-7.6885	6.7894|6.7894	0.23692|0.23692	0.0:0.6559:0.0:0.3441|0.0:0.6559:0.0:0.3441	.|.	.|108	.|P00568	.|KAD1_HUMAN	R|Q	49|108;108;124	.|ENSP00000362271:R108Q;ENSP00000362249:R108Q;ENSP00000223836:R124Q	.|ENSP00000223836:R124Q	G|R	-|-	1|2	0|0	AK1|AK1	129673924|129673924	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.913000|0.913000	0.54294|0.54294	1.517000|1.517000	0.35867|0.35867	1.176000|1.176000	0.42840|0.42840	0.555000|0.555000	0.69702|0.69702	GGA|CGG	.	.	none		0.602	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1		Missense_Mutation	T	130634103	C	T	130634103	5	4	23	1	0	0	0	0	0	0	1	0	439	666	23	1	273	1	AK1	9	130634103	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28718	130634103	10579328	2384	18840										
COQ4	51117	hgsc.bcm.edu	37	chr9	131094453	131094453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtctccccagacacccgaGcacccacccgcttcgtggat	10	18	1	1	rs34043652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:131094453G>A	ENST00000300452.3	+	5	747	c.424G>A	c.(424-426)Gca>Aca	p.A142T	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						AGACACCCGAGCACCCACCCG	0.602													G|||	46	0.0091853	0.0015	0.0014	5008	,	,		18056	0.0		0.003	False		,,,				2504	0.0409				p.A142T		Atlas-SNP	.											.	COQ4	20	.	0			c.G424A						PASS	.	G	THR/ALA	1,4403		0,1,2201	75	50	58		424	5.8	0.7	9	dbSNP_126	58	32,8566		0,32,4267	yes	missense	COQ4	NM_016035.3	58	0,33,6468	AA,AG,GG		0.3722,0.0227,0.2538	probably-damaging	142/266	131094453	33,12969	2202	4299	6501	SO:0001583	missense	51117	exon5			ACCCGAGCACCCA	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.424G>A	9.37:g.131094453G>A	ENSP00000300452:p.Ala142Thr	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	98	42	0.428571	NM_016035		Missense_Mutation	SNP	ENST00000300452.3	37	CCDS6898.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	13.72	2.321269	0.41096	2.27E-4	0.003722	ENSG00000167113	ENST00000300452	T	0.46063	0.88	5.85	5.85	0.93711	.	0.267657	0.42682	D	0.000670	T	0.47135	0.1429	M	0.61703	1.905	0.32752	N	0.506265	D	0.58268	0.982	P	0.55055	0.767	T	0.54016	-0.8356	10	0.14252	T	0.57	-14.8437	6.6755	0.23092	0.1447:0.1546:0.7007:0.0	rs34043652;rs34043652	142	Q9Y3A0	COQ4_HUMAN	T	142	ENSP00000300452:A142T	ENSP00000300452:A142T	A	+	1	0	COQ4	130134274	1.000000	0.71417	0.694000	0.30210	0.972000	0.66771	4.765000	0.62271	2.771000	0.95319	0.561000	0.74099	GCA	G|0.995;A|0.005	0.005	strong		0.602	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		A	131094453	G	A	131094453	3	1	23	1	0	0	0	0	1	0	0	0	3747	971	34	2	442	2	COQ4	9	131094453	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	460350	131094453	10118978	2385	18841										
CCBL1	883	hgsc.bcm.edu	37	chr9	131600394	131600394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatgggctcgtagcagtcaAaaaagggttcgatgatgatg	13	6	2	2	rs371451324		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:131600394A>G	ENST00000302586.3	-	5	536	c.374T>C	c.(373-375)tTt>tCt	p.F125S	CCBL1_ENST00000436267.2_Missense_Mutation_p.F219S|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.F75S	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	125					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GTAGCAGTCAAAAAAGGGTTC	0.542																																					p.F125S		Atlas-SNP	.											.	CCBL1	36	.	0			c.T374C						PASS	.	A	SER/PHE,SER/PHE,SER/PHE	0,4402		0,0,2201	165	174	171		374,224,374	5.1	1	9		171	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	CCBL1	NM_001122671.1,NM_001122672.1,NM_004059.4	155,155,155	0,1,6493	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	125/423,75/373,125/423	131600394	1,12987	2201	4293	6494	SO:0001583	missense	883	exon5			CAGTCAAAAAAGG	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.374T>C	9.37:g.131600394A>G	ENSP00000302227:p.Phe125Ser	Somatic	234	1	0.0042735		WXS	Illumina HiSeq	Phase_I	197	99	0.502538	NM_001122671	Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698125	0.88830	0.0	1.16E-4	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.12	5.12	0.69794	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	H	0.95950	3.745	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.97818	1.0255	10	0.87932	D	0	-33.2894	13.7717	0.63029	1.0:0.0:0.0:0.0	.	219;125;75;125;125	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	S	125;75;219;125;125	ENSP00000302227:F125S;ENSP00000317342:F75S;ENSP00000399415:F219S;ENSP00000390377:F125S;ENSP00000412402:F125S	ENSP00000302227:F125S	F	-	2	0	CCBL1	130640215	1.000000	0.71417	0.977000	0.42913	0.944000	0.59088	6.220000	0.72237	1.927000	0.55829	0.528000	0.53228	TTT	.	.	weak		0.542	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			G	131600394	A	G	131600394	3	3	23	1	0	0	0	0	1	0	0	0	2732	14	1	2	930	2	CCBL1	9	131600394	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	505941	131600394	9613037	2386	18842										
SH3GLB2	56904	hgsc.bcm.edu	37	chr9	131772399	131772399	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtgggcagtgggactcacGtgagtgctactgattccctc	15	10	1	2	rs11537525		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:131772399G>A	ENST00000372564.3	-	8	883	c.738C>T	c.(736-738)caC>caT	p.H246H	SH3GLB2_ENST00000417224.1_Splice_Site_p.H246H|SH3GLB2_ENST00000416629.1_Splice_Site_p.H225H|SH3GLB2_ENST00000372559.1_Splice_Site_p.H246H|SH3GLB2_ENST00000372554.4_Splice_Site_p.H250H	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	246	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TGGGACTCACGTGAGTGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18560	0.0		0.001	False		,,,				2504	0.0				p.H246H		Atlas-SNP	.											SH3GLB2,NS,haematopoietic_neoplasm,0,1	SH3GLB2	32	1	0			c.C738T						scavenged	.	G		1,4405	2.1+/-5.4	0,1,2202	95	89	91		738	-1.9	0.8	9	dbSNP_120	91	14,8586	10.5+/-38.8	0,14,4286	yes	coding-synonymous-near-splice	SH3GLB2	NM_020145.2		0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153		246/396	131772399	15,12991	2203	4300	6503	SO:0001630	splice_region_variant	56904	exon8			ACTCACGTGAGTG	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.738+1C>T	9.37:g.131772399G>A		Somatic	289	2	0.00692042		WXS	Illumina HiSeq	Phase_I	300	145	0.483333	NM_020145	A6NC47|A8MPS4|Q8WY61|Q96JH9	Silent	SNP	ENST00000372564.3	37	CCDS6916.1																																																																																			G|0.999;A|0.001	0.001	strong		0.622	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2		Silent	A	131772399	G	A	131772399	5	1	23	1	0	0	0	0	0	0	1	0	14254	1159	40	1	465	1	SH3GLB2	9	131772399	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	172005	131772399	9441032	2387	18843										
ASB6	140459	hgsc.bcm.edu	37	chr9	132401753	132401753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccggctggttccgcaggacGgcgatgtgcaaggccgtgta	16	11	0	0	rs144137235		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:132401753G>A	ENST00000277458.4	-	3	495	c.330C>T	c.(328-330)gcC>gcT	p.A110A	ASB6_ENST00000450050.2_Silent_p.A31A|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_Silent_p.A110A	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	110					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TCCGCAGGACGGCGATGTGCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18818	0.0		0.001	False		,,,				2504	0.0				p.A110A		Atlas-SNP	.											.	ASB6	31	.	0			c.C330T						PASS	.	G	,,	1,4405	2.1+/-5.4	0,1,2202	55	53	54		330,330,330	-7.5	0.4	9	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ASB6	NM_001202403.1,NM_017873.3,NM_177999.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	110/393,110/422,110/198	132401753	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	140459	exon3			CAGGACGGCGATG		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.330C>T	9.37:g.132401753G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	81	34	0.419753	NM_017873	Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	CCDS6924.1																																																																																			G|0.999;A|0.001	0.001	strong		0.607	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		A	132401753	G	A	132401753	2	1	23	1	0	0	0	0	0	0	0	1	1027	1103	39	1		1	ASB6	9	132401753	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	629354	132401753	8811678	2388	18844										
USP20	10868	hgsc.bcm.edu	37	chr9	132636920	132636920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattcaagatcaacagccaCgtctccttccccctcgaggg	7	16	4	1	rs35899714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:132636920C>T	ENST00000315480.4	+	18	1964	c.1806C>T	c.(1804-1806)caC>caT	p.H602H	USP20_ENST00000358355.1_Silent_p.H602H|USP20_ENST00000372429.3_Silent_p.H602H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	602	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TCAACAGCCACGTCTCCTTCC	0.587													C|||	231	0.0461262	0.0159	0.0576	5008	,	,		21525	0.003		0.0785	False		,,,				2504	0.09				p.H602H		Atlas-SNP	.											.	USP20	186	.	0			c.C1806T						PASS	.	C	,,	94,4154		0,94,2030	73	81	79		1806,1806,1806	0.3	1	9	dbSNP_126	79	794,7660		42,710,3475	no	coding-synonymous,coding-synonymous,coding-synonymous	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	,,	42,804,5505	TT,TC,CC		9.392,2.2128,6.991	,,	602/915,602/915,602/915	132636920	888,11814	2124	4227	6351	SO:0001819	synonymous_variant	10868	exon18			CAGCCACGTCTCC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1806C>T	9.37:g.132636920C>T		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	194	94	0.484536	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	CCDS43892.1																																																																																			C|0.937;T|0.063	0.063	strong		0.587	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132636920	C	T	132636920	2	4	23	1	0	0	0	0	0	0	0	1	17049	535	19	1		1	USP20	9	132636920	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	235167	132636920	8576511	2389	18845										
FNBP1	23048	hgsc.bcm.edu	37	chr9	132687349	132687349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgttatctgacacagtgcGcttcattggctgagtgtaat	11	8	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:132687349G>A	ENST00000446176.2	-	9	1063	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.R293C|FNBP1_ENST00000420781.1_Missense_Mutation_p.R293C	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R293C(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GACACAGTGCGCTTCATTGGC	0.423			T	MLL	AML																																p.R293C		Atlas-SNP	.		Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	FNBP1_ENST00000372416,colon,carcinoma,0,1	FNBP1	51	1	1	Substitution - Missense(1)	large_intestine(1)	c.C877T						scavenged	.						147	137	140					9																	132687349		1882	4120	6002	SO:0001583	missense	23048	exon9			CAGTGCGCTTCAT	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.877C>T	9.37:g.132687349G>A	ENSP00000413625:p.Arg293Cys	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	236	4	0.0169492	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752514	0.49362	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.51071	0.73;0.72;0.78	5.34	5.34	0.76211	.	0.101754	0.64402	D	0.000004	T	0.68366	0.2993	M	0.76574	2.34	0.80722	D	1	P;D;P;D;D;P;D	0.89917	0.796;1.0;0.943;0.967;1.0;0.5;1.0	B;D;B;P;D;B;D	0.91635	0.139;0.999;0.225;0.584;0.999;0.066;0.972	T	0.70916	-0.4742	10	0.66056	D	0.02	-25.4201	14.8855	0.70564	0.0:0.0:0.8563:0.1437	.	293;293;293;293;254;293;293	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	C	293	ENSP00000413625:R293C;ENSP00000407548:R293C;ENSP00000347907:R293C	ENSP00000347907:R293C	R	-	1	0	FNBP1	131727170	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.818000	0.55678	2.655000	0.90218	0.462000	0.41574	CGC	.	.	none		0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			A	132687349	G	A	132687349	3	1	23	1	0	0	0	0	1	0	0	0	5965	1087	38	1	1012	1	FNBP1	9	132687349	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	50429	132687349	8526082	2390	18846										
BAT2L1	84726	hgsc.bcm.edu	37	chr9	134351770	134351770	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaagaaggagctggccaaGaggagcttctccagtcagag	15	8	2	4	rs78591540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:134351770G>A	ENST00000357304.4	+	15	4309	c.4254G>A	c.(4252-4254)aaG>aaA	p.K1418K	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1418							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCTGGCCAAGAGGAGCTTCT	0.652											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	487	0.0972444	0.1778	0.0735	5008	,	,		13836	0.004		0.163	False		,,,				2504	0.0337				p.K1418K		Atlas-SNP	.											.	PRRC2B	266	.	0			c.G4254A						PASS	.	G		504,3354		23,458,1448	15	17	16		4254	4.9	1	9	dbSNP_132	16	1094,7126		70,954,3086	no	coding-synonymous	PRRC2B	NM_013318.3		93,1412,4534	AA,AG,GG		13.309,13.0638,13.2307		1418/2230	134351770	1598,10480	1929	4110	6039	SO:0001819	synonymous_variant	84726	exon15			GGCCAAGAGGAGC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4254G>A	9.37:g.134351770G>A		Somatic	70	0	0	1610	WXS	Illumina HiSeq	Phase_I	67	63	0.940298	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1	219	0.10027472527472528	68	0.13821138211382114	29	0.08011049723756906	1	0.0017482517482517483	121	0.15963060686015831	G	7.262	0.605446	0.14002	0.130638	0.13309	ENSG00000130723	ENST00000451855	.	.	.	5.93	4.94	0.65067	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.06463	-1.0825	3	.	.	.	.	12.4476	0.55659	0.1081:0.0:0.8919:0.0	.	.	.	.	K	152	.	.	E	+	1	0	PRRC2B	133341591	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.787000	0.55439	2.814000	0.96858	0.655000	0.94253	GAG	A|0.104;C|0.000;G|0.895	0.104	strong		0.652	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134351770	G	A	134351770	2	1	23	1	0	0	0	0	0	0	0	1	1320	933	33	2		2	BAT2L1	9	134351770	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1664421	134351770	6861661	2391	18847										
POMT1	10585	hgsc.bcm.edu	37	chr9	134385435	134385435	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcctgtatggggcagatgCagatgtcacagggggtactt	16	8	1	2	rs386738991|rs3887873	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:134385435C>T	ENST00000372228.3	+	8	930	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	POMT1_ENST00000404875.2_Intron|POMT1_ENST00000354713.4_Intron|POMT1_ENST00000423007.1_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Intron|POMT1_ENST00000419118.2_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	251			Q -> R (in dbSNP:rs2296949). {ECO:0000269|PubMed:10366449, ECO:0000269|PubMed:14702039}.|Q -> W (requires 2 nucleotide substitutions; dbSNP:rs3887873).		carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGGGCAGATGCAGATGTCACA	0.572													C|||	394	0.0786741	0.1248	0.0793	5008	,	,		19038	0.001		0.1461	False		,,,				2504	0.0266				p.Q251X		Atlas-SNP	.											.	POMT1	59	.	0			c.C751T						PASS	.	C	,,,,stop/GLN	395,4011		22,351,1830	72	61	65		,,,,751	-1.1	0	9	dbSNP_108	65	871,7729		65,741,3494	yes	intron,intron,intron,intron,stop-gained	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	87,1092,5324	TT,TC,CC		10.1279,8.965,9.734	,,,,	,,,,251/748	134385435	1266,11740	2203	4300	6503	SO:0001587	stop_gained	10585	exon8			CAGATGCAGATGT	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.751C>T	9.37:g.134385435C>T	ENSP00000361302:p.Gln251*	Somatic	107	1	0.00934579		WXS	Illumina HiSeq	Phase_I	119	118	0.991597	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Nonsense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	147	0.0673076923076923	34	0.06910569105691057	29	0.08011049723756906	1	0.0017482517482517483	83	0.10949868073878628	C	12.05	1.821679	0.32237	0.08965	0.101279	ENSG00000130714	ENST00000441334;ENST00000372228;ENST00000448212	.	.	.	2.2	-1.1	0.09872	.	4.494090	0.00649	U	0.000543	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2385	2.8102	0.05440	0.3724:0.2516:0.376:0.0	rs3887873;rs52806687;rs57618284;rs3887873	.	.	.	X	134;251;197	.	.	Q	+	1	0	POMT1	133375256	0.274000	0.24191	0.001000	0.08648	0.049000	0.14656	-0.097000	0.11042	-0.288000	0.09051	-0.234000	0.12200	CAG	C|0.904;T|0.096	0.096	strong		0.572	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		T	134385435	C	T	134385435	4	4	23	1	0	0	0	0	0	1	0	0	12245	711	25	2	777	2	POMT1	9	134385435	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	33665	134385435	6827996	2392	18848										
SETX	23064	hgsc.bcm.edu	37	chr9	135203838	135203838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttactattaactgttgaaacGtgctgctctggatgttccct	8	9	1	1	rs3739921	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:135203838G>A	ENST00000224140.5	-	10	3329	c.3147C>T	c.(3145-3147)caC>caT	p.H1049H	SETX_ENST00000393220.1_Silent_p.H1049H|SETX_ENST00000372169.2_Silent_p.H1049H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1049					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTTGAAACGTGCTGCTCTG	0.378													G|||	572	0.114217	0.0401	0.0937	5008	,	,		19543	0.2083		0.0616	False		,,,				2504	0.1861				p.H1049H		Atlas-SNP	.											.	SETX	234	.	0			c.C3147T						PASS	.	G		182,4224	118.8+/-156.5	2,178,2023	140	139	139		3147	-3.4	0	9	dbSNP_107	139	690,7910	171.3+/-222.3	24,642,3634	no	coding-synonymous	SETX	NM_015046.5		26,820,5657	AA,AG,GG		8.0233,4.1307,6.7046		1049/2678	135203838	872,12134	2203	4300	6503	SO:0001819	synonymous_variant	23064	exon10			TGAAACGTGCTGC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3147C>T	9.37:g.135203838G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	97	40	0.412371	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																			G|0.910;A|0.090	0.090	strong		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		A	135203838	G	A	135203838	2	1	23	1	0	0	0	0	0	0	0	1	14141	1136	40	1		1	SETX	9	135203838	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	818403	135203838	6009593	2393	18849										
C9orf171	389799	hgsc.bcm.edu	37	chr9	135374898	135374898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctctaccgtcagctcaaTgacatccgcatcagtgacca	7	14	4	2	rs562350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:135374898T>C	ENST00000343036.2	+	4	591	c.543T>C	c.(541-543)aaT>aaC	p.N181N	C9orf171_ENST00000393216.2_Silent_p.N145N|C9orf171_ENST00000393215.3_Silent_p.N145N	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	181								p.N181N(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTCAGCTCAATGACATCCGCA	0.602													C|||	3397	0.678315	0.8533	0.572	5008	,	,		18275	0.8254		0.4831	False		,,,				2504	0.5665				p.N181N		Atlas-SNP	.											C9orf171,NS,carcinoma,0,2	C9orf171	53	2	1	Substitution - coding silent(1)	prostate(1)	c.T543C						scavenged	.	C		3509,897	345.4+/-308.5	1400,709,94	87	87	87		543	-6.7	0.6	9	dbSNP_83	87	4615,3985	553.0+/-386.2	1264,2087,949	no	coding-synonymous	C9orf171	NM_207417.1		2664,2796,1043	CC,CT,TT		46.3372,20.3586,37.5365		181/321	135374898	8124,4882	2203	4300	6503	SO:0001819	synonymous_variant	389799	exon4			GCTCAATGACATC	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.543T>C	9.37:g.135374898T>C		Somatic	117	2	0.017094		WXS	Illumina HiSeq	Phase_I	129	65	0.503876	NM_207417	Q147X1	Silent	SNP	ENST00000343036.2	37	CCDS6949.1																																																																																			T|0.356;C|0.644	0.644	strong		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		C	135374898	T	C	135374898	2	2	23	1	0	0	0	0	0	0	0	1	2470	1461	51	2		2	C9orf171	9	135374898	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	171060	135374898	5838533	2394	18850										
DDX31	64794	hgsc.bcm.edu	37	chr9	135521303	135521303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgctccatgccgccatgCagccgtaggaattttaatcg	9	13	0	0	rs306537	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:135521303C>T	ENST00000372159.3	-	13	1825	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	DDX31_ENST00000372153.1_Silent_p.L558L|DDX31_ENST00000438527.3_Silent_p.L429L|DDX31_ENST00000310532.2_Silent_p.L558L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	558	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGCCGCCATGCAGCCGTAGGA	0.612													C|||	455	0.0908546	0.1324	0.121	5008	,	,		18566	0.1171		0.0417	False		,,,				2504	0.0368				p.L558L		Atlas-SNP	.											.	DDX31	76	.	0			c.G1674A						PASS	.	C	,	477,3929	222.6+/-239.4	28,421,1754	32	31	31		1674,1674	3.7	1	9	dbSNP_79	31	366,8234	121.7+/-180.7	3,360,3937	no	coding-synonymous,coding-synonymous	DDX31	NM_022779.7,NM_138620.1	,	31,781,5691	TT,TC,CC		4.2558,10.8261,6.4816	,	558/852,558/586	135521303	843,12163	2203	4300	6503	SO:0001819	synonymous_variant	64794	exon13			GCCATGCAGCCGT	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1674G>A	9.37:g.135521303C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Silent	SNP	ENST00000372159.3	37	CCDS6951.1																																																																																			C|0.927;T|0.073	0.073	strong		0.612	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		T	135521303	C	T	135521303	2	4	23	1	0	0	0	0	0	0	0	1	4356	697	25	2		2	DDX31	9	135521303	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	146405	135521303	5692128	2395	18851										
GTF3C4	9329	hgsc.bcm.edu	37	chr9	135546021	135546021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcccgggtggggcccgcGgacgacgggcctgcgccgtc	19	16	0	0	rs146201597	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:135546021G>A	ENST00000372146.4	+	1	600	c.36G>A	c.(34-36)gcG>gcA	p.A12A	DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000372153.1_5'Flank|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.A12A|DDX31_ENST00000544003.1_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	12					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGGGGCCCGCGGACGACGGGC	0.771													G|||	81	0.0161741	0.0045	0.0202	5008	,	,		9102	0.0		0.0338	False		,,,				2504	0.0276				p.A12A	Pancreas(142;417 1875 11086 31973 47667)	Atlas-SNP	.											.	GTF3C4	53	.	0			c.G36A						PASS	.	G		13,2385		0,13,1186	3	4	4		36	2.4	0.9	9	dbSNP_134	4	168,5390		0,168,2611	no	coding-synonymous	GTF3C4	NM_012204.2		0,181,3797	AA,AG,GG		3.0227,0.5421,2.275		12/823	135546021	181,7775	1199	2779	3978	SO:0001819	synonymous_variant	9329	exon1			GCCCGCGGACGAC	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.36G>A	9.37:g.135546021G>A		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	9	8	0.888889	NM_012204	Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																			G|0.986;A|0.014	0.014	strong		0.771	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			A	135546021	G	A	135546021	2	1	23	1	0	0	0	0	0	0	0	1	6875	1103	39	1		1	GTF3C4	9	135546021	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24718	135546021	5667410	2396	18852										
GBGT1	26301	hgsc.bcm.edu	37	chr9	136029138	136029138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccgccaggcagccatgatGccattggccttgtccgccag	11	16	0	1	rs35902535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136029138G>A	ENST00000372040.3	-	7	1181	c.870C>T	c.(868-870)ggC>ggT	p.G290G	GBGT1_ENST00000540636.1_Silent_p.G273G|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.A284V|RALGDS_ENST00000542690.1_Intron	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	290					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CAGCCATGATGCCATTGGCCT	0.587													G|||	210	0.0419329	0.0333	0.0403	5008	,	,		17659	0.002		0.0795	False		,,,				2504	0.0573				p.G290G		Atlas-SNP	.											.	GBGT1	25	.	0			c.C870T						PASS	.	G		200,4206	124.9+/-162.1	8,184,2011	121	113	116		870	2.3	1	9	dbSNP_126	116	618,7982	160.3+/-213.4	16,586,3698	no	coding-synonymous	GBGT1	NM_021996.4		24,770,5709	AA,AG,GG		7.186,4.5393,6.2894		290/348	136029138	818,12188	2203	4300	6503	SO:0001819	synonymous_variant	26301	exon7			CATGATGCCATTG	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.870C>T	9.37:g.136029138G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	140	68	0.485714	NM_021996	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Silent	SNP	ENST00000372040.3	37	CCDS6960.1	105	0.04807692307692308	21	0.042682926829268296	15	0.04143646408839779	2	0.0034965034965034965	67	0.08839050131926121	G	12.72	2.022220	0.35701	0.045393	0.07186	ENSG00000148288	ENST00000372043	T	0.23348	1.91	5.38	2.31	0.28768	.	.	.	.	.	T	0.01287	0.0042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00460	-1.1726	6	0.87932	D	0	-15.1162	5.0909	0.14708	0.2677:0.3054:0.4269:0.0	rs35902535;rs62638711	.	.	.	V	284	ENSP00000361113:A284V	ENSP00000361113:A284V	A	-	2	0	GBGT1	135018959	0.629000	0.27146	0.992000	0.48379	0.929000	0.56500	0.761000	0.26489	0.542000	0.28846	0.561000	0.74099	GCA	G|0.944;A|0.056	0.056	strong		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		A	136029138	G	A	136029138	2	1	23	1	0	0	0	0	0	0	0	1	6272	1306	46	2		2	GBGT1	9	136029138	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	483117	136029138	5184293	2397	18853										
GBGT1	26301	hgsc.bcm.edu	37	chr9	136029645	136029645	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggactggatgaaatgagtGtacctagtgatgatcacccg	12	7	1	4	rs35898523	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136029645G>T	ENST00000372040.3	-	7	674	c.363C>A	c.(361-363)taC>taA	p.Y121*	GBGT1_ENST00000540636.1_Nonsense_Mutation_p.Y104*|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.H134N|GBGT1_ENST00000372043.3_Intron|RALGDS_ENST00000542690.1_Intron	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	121					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		TGAAATGAGTGTACCTAGTGA	0.587													G|||	215	0.0429313	0.034	0.0418	5008	,	,		18455	0.002		0.0815	False		,,,				2504	0.0583				p.Y121X		Atlas-SNP	.											GBGT1,NS,carcinoma,-2,1	GBGT1	25	1	0			c.C363A						PASS	.	G	stop/TYR	199,4207	121.7+/-159.2	8,183,2012	39	40	39		363	1.5	0.9	9	dbSNP_126	39	629,7971	155.7+/-209.7	18,593,3689	yes	stop-gained	GBGT1	NM_021996.4		26,776,5701	TT,TG,GG		7.314,4.5166,6.3663		121/348	136029645	828,12178	2203	4300	6503	SO:0001587	stop_gained	26301	exon7			ATGAGTGTACCTA	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.363C>A	9.37:g.136029645G>T	ENSP00000361110:p.Tyr121*	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	23	7	0.304348	NM_021996	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Nonsense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	108|108	0.04945054945054945|0.04945054945054945	23|23	0.046747967479674794|0.046747967479674794	16|16	0.04419889502762431|0.04419889502762431	2|2	0.0034965034965034965|0.0034965034965034965	67|67	0.08839050131926121|0.08839050131926121	G|G	17.35|17.35	3.367115|3.367115	0.61513|0.61513	0.045166|0.045166	0.07314|0.07314	ENSG00000148288|ENSG00000148288	ENST00000372038|ENST00000372040;ENST00000540636	T|.	0.36157|.	1.27|.	5.38|5.38	1.47|1.47	0.22746|0.22746	.|.	.|0.137701	.|0.50627	.|D	.|0.000106	T|.	0.01156|.	0.0038|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.02358|.	-1.1171|.	6|.	0.05833|0.07813	T|T	0.94|0.8	-15.2709|-15.2709	6.0904|6.0904	0.19991|0.19991	0.2143:0.0:0.6535:0.1322|0.2143:0.0:0.6535:0.1322	rs35898523;rs62638704|rs35898523;rs62638704	.|.	.|.	.|.	N|X	134|121;104	ENSP00000361108:H134N|.	ENSP00000361108:H134N|ENSP00000361110:Y121X	H|Y	-|-	1|3	0|2	GBGT1|GBGT1	135019466|135019466	0.883000|0.883000	0.30277|0.30277	0.900000|0.900000	0.35374|0.35374	0.243000|0.243000	0.25628|0.25628	0.687000|0.687000	0.25407|0.25407	0.008000|0.008000	0.14787|0.14787	0.491000|0.491000	0.48974|0.48974	CAC|TAC	G|0.941;T|0.059	0.059	strong		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		T	136029645	G	T	136029645	4	4	23	1	0	0	0	0	0	1	0	0	6272	1372	48	4	684	4	GBGT1	9	136029645	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	507	136029645	5183786	2398	18854										
GBGT1	26301	hgsc.bcm.edu	37	chr9	136037742	136037742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactcaccacaggacactgaGgcttgtgcccgccaacaggc	11	15	1	1	rs2073924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136037742G>A	ENST00000372040.3	-	2	369	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	GBGT1_ENST00000540636.1_Missense_Mutation_p.L20F|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.L20F|GBGT1_ENST00000372043.3_Missense_Mutation_p.L20F|RALGDS_ENST00000542690.1_Missense_Mutation_p.L20F|GBGT1_ENST00000372036.3_Missense_Mutation_p.L20F	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	20			L -> F (in dbSNP:rs2073924). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGGACACTGAGGCTTGTGCCC	0.657													G|||	1586	0.316693	0.2579	0.2954	5008	,	,		11531	0.5288		0.1829	False		,,,				2504	0.3303				p.L20F		Atlas-SNP	.											GBGT1,NS,carcinoma,0,1	GBGT1	25	1	0			c.C58T						scavenged	.	G	PHE/LEU	1215,3189		158,899,1145	36	33	34		58	0.9	0	9	dbSNP_96	34	1652,6948		167,1318,2815	yes	missense	GBGT1	NM_021996.4	22	325,2217,3960	AA,AG,GG		19.2093,27.5886,22.0471		20/348	136037742	2867,10137	2202	4300	6502	SO:0001583	missense	26301	exon2			CACTGAGGCTTGT	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.58C>T	9.37:g.136037742G>A	ENSP00000361110:p.Leu20Phe	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	146	68	0.465753	NM_021996	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	678	0.31043956043956045	139	0.28252032520325204	99	0.27348066298342544	298	0.5209790209790209	142	0.18733509234828497	G	16.05	3.014065	0.54468	0.275886	0.192093	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.44083	1.32;5.03;5.03;4.78;0.93;0.99	2.86	0.886	0.19194	.	1.329470	0.04963	N	0.462367	T	0.00012	0.0000	L	0.47190	1.495	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.19073	0.002;0.018;0.033;0.002	B;B;B;B	0.19946	0.014;0.018;0.027;0.014	T	0.46048	-0.9219	9	0.51188	T	0.08	0.216	3.2144	0.06694	0.146:0.0:0.5942:0.2597	rs2073924;rs17853057;rs58898475;rs2073924	20;20;20;20	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	F	20	ENSP00000437518:L20F;ENSP00000361113:L20F;ENSP00000361110:L20F;ENSP00000437663:L20F;ENSP00000361108:L20F;ENSP00000361106:L20F	ENSP00000361106:L20F	L	-	1	0	GBGT1;RALGDS	135027563	0.202000	0.23423	0.042000	0.18584	0.580000	0.36256	0.412000	0.21131	0.218000	0.20820	0.563000	0.77884	CTC	G|0.741;A|0.259	0.259	strong		0.657	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		A	136037742	G	A	136037742	3	1	23	1	0	0	0	0	1	0	0	0	6272	1000	35	2	1009	2	GBGT1	9	136037742	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8097	136037742	5175689	2399	18855										
RPL7A	6130	hgsc.bcm.edu	37	chr9	136216882	136216882	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaaaggggacgtcccaacGaagagaccacctgtccttcg	12	13	0	1	rs7700	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136216882G>A	ENST00000323345.6	+	4	420	c.390G>A	c.(388-390)acG>acA	p.T130T	MED22_ENST00000471524.1_5'Flank|SNORD24_ENST00000383884.1_RNA|RPL7A_ENST00000315731.4_Silent_p.T15T|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000476080.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36C_ENST00000516733.1_RNA|SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000491289.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000371999.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	130					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		ACGTCCCAACGAAGAGACCAC	0.557													G|||	153	0.0305511	0.003	0.0389	5008	,	,		19124	0.0198		0.0795	False		,,,				2504	0.0225				p.T130T		Atlas-SNP	.											.	RPL7A	9	.	0			c.G390A						PASS	.	G		75,4331	66.4+/-103.9	1,73,2129	58	63	61		390	-8.4	0.8	9	dbSNP_52	61	706,7894	171.4+/-222.4	32,642,3626	no	coding-synonymous	RPL7A	NM_000972.2		33,715,5755	AA,AG,GG		8.2093,1.7022,6.0049		130/267	136216882	781,12225	2203	4300	6503	SO:0001819	synonymous_variant	6130	exon4			CCCAACGAAGAGA	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.390G>A	9.37:g.136216882G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_000972	P11518|Q5T8U4	Silent	SNP	ENST00000323345.6	37	CCDS6965.1																																																																																			G|0.942;A|0.058	0.058	strong		0.557	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		A	136216882	G	A	136216882	2	1	23	1	0	0	0	0	0	0	0	1	13600	1045	37	1		1	RPL7A	9	136216882	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	179140	136216882	4996549	2400	18856										
SURF2	6835	hgsc.bcm.edu	37	chr9	136228006	136228006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttcagctcctgtaaacaGccaggttaataaaagcacat	7	10	1	0	rs34939258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136228006G>A	ENST00000371964.4	+	6	803	c.762G>A	c.(760-762)caG>caA	p.Q254Q	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	254						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CCTGTAAACAGCCAGGTTAAT	0.458													G|||	157	0.0313498	0.0038	0.0389	5008	,	,		20944	0.0198		0.0815	False		,,,				2504	0.0235				p.Q254Q		Atlas-SNP	.											.	SURF2	9	.	0			c.G762A						PASS	.	G		75,4331	67.0+/-104.6	1,73,2129	135	136	136		762	1.2	0	9	dbSNP_126	136	725,7875	176.6+/-226.4	35,655,3610	no	coding-synonymous	SURF2	NM_017503.3		36,728,5739	AA,AG,GG		8.4302,1.7022,6.151		254/257	136228006	800,12206	2203	4300	6503	SO:0001819	synonymous_variant	6835	exon6			TAAACAGCCAGGT		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.762G>A	9.37:g.136228006G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	53	17	0.320755	NM_017503	Q6IBP9|Q96CD1	Silent	SNP	ENST00000371964.4	37	CCDS6967.1																																																																																			G|0.940;A|0.060	0.060	strong		0.458	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		A	136228006	G	A	136228006	2	1	23	1	0	0	0	0	0	0	0	1	15401	962	34	2		2	SURF2	9	136228006	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11124	136228006	4985425	2401	18857										
C9orf96	169436	hgsc.bcm.edu	37	chr9	136268912	136268912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcggatggggaaatggcAgaagccagctgcggagtctt	16	9	1	1	rs28510482	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136268912A>G	ENST00000371957.3	+	15	1670	c.1563A>G	c.(1561-1563)gcA>gcG	p.A521A	C9orf96_ENST00000371955.1_Silent_p.A54A	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		521							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGAAATGGCAGAAGCCAGCT	0.652													G|||	823	0.164337	0.2073	0.1715	5008	,	,		16710	0.0516		0.165	False		,,,				2504	0.2168				p.A521A		Atlas-SNP	.											.	C9orf96	77	.	0			c.A1563G						PASS	.	G		864,3542	741.0+/-411.2	92,680,1431	41	41	41		1563	-9.2	0	9	dbSNP_125	41	1517,7083	744.8+/-407.2	146,1225,2929	no	coding-synonymous	C9orf96	NM_153710.3		238,1905,4360	GG,GA,AA		17.6395,19.6096,18.3069		521/681	136268912	2381,10625	2203	4300	6503	SO:0001819	synonymous_variant	169436	exon15			AATGGCAGAAGCC																												ENST00000371957.3:c.1563A>G	9.37:g.136268912A>G		Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	69	68	0.985507	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	CCDS35169.1																																																																																			A|0.830;G|0.170	0.170	strong		0.652	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			G	136268912	A	G	136268912	2	3	23	1	0	0	0	0	0	0	0	1	2508	175	7	3		3	C9orf96	9	136268912	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	40906	136268912	4944519	2402	18858										
C9orf96	169436	hgsc.bcm.edu	37	chr9	136269143	136269143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggtgaacaatgcctaccGgggactggccagcctggtga	15	11	0	2	rs17150554	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136269143G>A	ENST00000371957.3	+	16	1810	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	C9orf96_ENST00000371955.1_Missense_Mutation_p.R101Q	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		568			R -> Q (in dbSNP:rs17150554).				ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AATGCCTACCGGGGACTGGCC	0.607											OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	162	0.0323482	0.0045	0.0403	5008	,	,		17509	0.0198		0.0815	False		,,,				2504	0.0266				p.R568Q		Atlas-SNP	.											C9orf96_ENST00000371957,NS,carcinoma,0,2	C9orf96	77	2	0			c.G1703A						PASS	.	G	GLN/ARG	74,4332	66.4+/-103.9	1,72,2130	48	49	48		1703	3.1	1	9	dbSNP_123	48	732,7868	175.9+/-225.9	37,658,3605	yes	missense	C9orf96	NM_153710.3	43	38,730,5735	AA,AG,GG		8.5116,1.6795,6.1971	probably-damaging	568/681	136269143	806,12200	2203	4300	6503	SO:0001583	missense	169436	exon16			CCTACCGGGGACT																												ENST00000371957.3:c.1703G>A	9.37:g.136269143G>A	ENSP00000361025:p.Arg568Gln	Somatic	178	0	0	1624	WXS	Illumina HiSeq	Phase_I	133	58	0.43609	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	97	0.044413919413919416	3	0.006097560975609756	16	0.04419889502762431	12	0.02097902097902098	66	0.0870712401055409	G	15.68	2.905428	0.52333	0.016795	0.085116	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.51574	0.7;0.79	5.12	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.108809	0.39909	N	0.001223	T	0.01156	0.0038	L	0.50333	1.59	0.38264	P	0.05803999999999998	P	0.40250	0.709	B	0.23716	0.048	T	0.16837	-1.0389	9	0.54805	T	0.06	-35.4068	6.0443	0.19752	0.1013:0.0:0.5425:0.3562	rs17150554;rs52833361;rs17150554	568	Q8NE28	SGK71_HUMAN	Q	568;101	ENSP00000361025:R568Q;ENSP00000361023:R101Q	ENSP00000361023:R101Q	R	+	2	0	C9orf96	135258964	0.960000	0.32886	0.983000	0.44433	0.640000	0.38277	1.589000	0.36644	1.116000	0.41820	0.555000	0.69702	CGG	G|0.947;A|0.053	0.053	strong		0.607	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			A	136269143	G	A	136269143	3	1	23	1	0	0	0	0	1	0	0	0	2508	1116	39	1	1765	1	C9orf96	9	136269143	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	231	136269143	4944288	2403	18859										
C9orf96	169436	hgsc.bcm.edu	37	chr9	136270538	136270538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcaccacgtctgggggacTggaatagatgtttgtatgga	15	6	1	1	rs41302673	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136270538T>G	ENST00000371957.3	+	18	2143	c.2036T>G	c.(2035-2037)cTg>cGg	p.L679R	C9orf96_ENST00000371955.1_Missense_Mutation_p.L212R	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		679							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCTGGGGGACTGGAATAGATG	0.557													T|||	187	0.0373403	0.0023	0.0677	5008	,	,		18018	0.0		0.1014	False		,,,				2504	0.0358				p.L679R		Atlas-SNP	.											C9orf96_ENST00000371957,NS,carcinoma,0,1	C9orf96	77	1	0			c.T2036G						PASS	.	T	ARG/LEU	68,4338	61.1+/-98.1	0,68,2135	35	37	36		2036	-5.6	0	9	dbSNP_127	36	851,7749	191.4+/-237.6	51,749,3500	yes	missense	C9orf96	NM_153710.3	102	51,817,5635	GG,GT,TT		9.8953,1.5433,7.066	possibly-damaging	679/681	136270538	919,12087	2203	4300	6503	SO:0001583	missense	169436	exon18			GGGGACTGGAATA																												ENST00000371957.3:c.2036T>G	9.37:g.136270538T>G	ENSP00000361025:p.Leu679Arg	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	35	19	0.542857	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	105	0.04807692307692308	3	0.006097560975609756	24	0.06629834254143646	0	0.0	78	0.10290237467018469	T	10.74	1.435227	0.25813	0.015433	0.098953	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.71222	-0.55;0.56	3.37	-5.58	0.02512	.	6.515760	0.00960	U	0.003081	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	P	0.40476	0.718	B	0.32864	0.154	T	0.26360	-1.0105	10	0.87932	D	0	12.8738	5.8566	0.18722	0.0:0.529:0.1608:0.3103	rs41302673	679	Q8NE28	SGK71_HUMAN	R	679;212	ENSP00000361025:L679R;ENSP00000361023:L212R	ENSP00000361023:L212R	L	+	2	0	C9orf96	135260359	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.438000	0.02416	-0.816000	0.04340	0.379000	0.24179	CTG	T|0.932;G|0.068	0.068	strong		0.557	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			G	136270538	T	G	136270538	3	3	23	1	0	0	0	0	1	0	0	0	2508	1580	55	5	2106	5	C9orf96	9	136270538	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1395	136270538	4942893	2404	18860										
REXO4	57109	hgsc.bcm.edu	37	chr9	136277482	136277482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagtccgtcacgggctcagTtggtttgacgtacttgtcat	11	9	3	1	rs2285487	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136277482T>C	ENST00000371942.3	-	4	1046	c.847A>G	c.(847-849)Act>Gct	p.T283A	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	283	Exonuclease.		T -> A (in dbSNP:rs2285487). {ECO:0000269|PubMed:9325058}.		regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACGGGCTCAGTTGGTTTGACG	0.562													T|||	168	0.0335463	0.0083	0.0403	5008	,	,		20922	0.0198		0.0825	False		,,,				2504	0.0266				p.T283A		Atlas-SNP	.											.	REXO4	27	.	0			c.A847G						PASS	.	T	ALA/THR	93,4313	75.7+/-113.9	1,91,2111	241	221	228		847	-0.3	0	9	dbSNP_100	228	731,7869	176.3+/-226.2	37,657,3606	yes	missense	REXO4	NM_020385.2	58	38,748,5717	CC,CT,TT		8.5,2.1108,6.3355	probably-damaging	283/423	136277482	824,12182	2203	4300	6503	SO:0001583	missense	57109	exon4			GCTCAGTTGGTTT	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.847A>G	9.37:g.136277482T>C	ENSP00000361010:p.Thr283Ala	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	101	0.04624542124542125	7	0.014227642276422764	16	0.04419889502762431	12	0.02097902097902098	66	0.0870712401055409	T	10.27	1.304442	0.23736	0.021108	0.085	ENSG00000148300	ENST00000453165;ENST00000371942	T;T	0.30182	1.54;1.54	5.03	-0.329	0.12686	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.102758	0.64402	N	0.000003	T	0.00754	0.0025	L	0.58101	1.795	0.09310	P	0.9999999824378	B	0.17038	0.02	B	0.21151	0.033	T	0.24728	-1.0152	9	0.11485	T	0.65	-13.7982	5.2666	0.15603	0.0:0.243:0.1399:0.6171	rs2285487;rs41506846;rs59923134;rs2285487	283	Q9GZR2	REXO4_HUMAN	A	268;283	ENSP00000403272:T268A;ENSP00000361010:T283A	ENSP00000361010:T283A	T	-	1	0	REXO4	135267303	0.939000	0.31865	0.002000	0.10522	0.158000	0.22134	1.523000	0.35932	-0.290000	0.09025	0.459000	0.35465	ACT	T|0.944;C|0.056	0.056	strong		0.562	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			C	136277482	T	C	136277482	3	2	23	1	0	0	0	0	1	0	0	0	13243	1725	60	2	441	2	REXO4	9	136277482	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6944	136277482	4935949	2405	18861										
REXO4	57109	hgsc.bcm.edu	37	chr9	136279935	136279935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtgcgaggtactggcgccCtcctgtccatcttggaacct	12	13	1	0	rs6597630	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136279935C>T	ENST00000371942.3	-	2	621	c.422G>A	c.(421-423)aGg>aAg	p.R141K	REXO4_ENST00000371935.2_Missense_Mutation_p.G82R|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	141			R -> K (in dbSNP:rs6597630).		regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TACTGGCGCCCTCCTGTCCAT	0.542													T|||	449	0.0896565	0.2126	0.0519	5008	,	,		18683	0.0198		0.0855	False		,,,				2504	0.0266				p.R141K		Atlas-SNP	.											.	REXO4	27	.	0			c.G422A						PASS	.	T	LYS/ARG	824,3582	748.0+/-411.9	84,656,1463	147	118	128		422	-3.9	0	9	dbSNP_116	128	743,7857	785.5+/-407.6	37,669,3594	yes	missense	REXO4	NM_020385.2	26	121,1325,5057	TT,TC,CC		8.6395,18.7018,12.0483	benign	141/423	136279935	1567,11439	2203	4300	6503	SO:0001583	missense	57109	exon2			GGCGCCCTCCTGT	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.422G>A	9.37:g.136279935C>T	ENSP00000361010:p.Arg141Lys	Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	190	101	0.531579	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	198|198	0.09065934065934066|0.09065934065934066	98|98	0.1991869918699187|0.1991869918699187	21|21	0.058011049723756904|0.058011049723756904	12|12	0.02097902097902098|0.02097902097902098	67|67	0.08839050131926121|0.08839050131926121	T|T	1.245|1.245	-0.620319|-0.620319	0.03636|0.03636	0.187018|0.187018	0.086395|0.086395	ENSG00000148300|ENSG00000148300	ENST00000371935;ENST00000454825|ENST00000453165;ENST00000371942;ENST00000445916	.|T;T;T	.|0.19105	.|2.43;2.44;2.17	4.45|4.45	-3.93|-3.93	0.04143|0.04143	.|.	.|18.384800	.|0.00481	.|N	.|0.000133	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00179|0.00179	-1.91|-1.91	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.35525|0.35525	-0.9785|-0.9785	7|9	0.87932|0.02654	D|T	0|1	.|.	7.2986|7.2986	0.26408|0.26408	0.0:0.2359:0.483:0.2811|0.0:0.2359:0.483:0.2811	rs6597630|rs6597630	82|141	Q9GZR2-2|Q9GZR2	.|REXO4_HUMAN	R|K	82|126;141;48	.|ENSP00000403272:R126K;ENSP00000361010:R141K;ENSP00000391534:R48K	ENSP00000361003:G82R|ENSP00000361010:R141K	G|R	-|-	1|2	0|0	REXO4|REXO4	135269756|135269756	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.094000|-0.094000	0.11094|0.11094	-1.093000|-1.093000	0.03058|0.03058	-0.361000|-0.361000	0.07541|0.07541	GGG|AGG	C|0.889;T|0.111	0.111	strong		0.542	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			T	136279935	C	T	136279935	3	4	23	1	0	0	0	0	1	0	0	0	13243	681	24	2	874	2	REXO4	9	136279935	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2453	136279935	4933496	2406	18862										
ADAMTS13	11093	hgsc.bcm.edu	37	chr9	136287582	136287582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgcaccagcgtcaccccCgggcaagatgccctcccctc	10	19	1	1	rs34024143	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136287582C>T	ENST00000371929.3	+	1	463	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	ADAMTS13_ENST00000371911.3_Missense_Mutation_p.R7W|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.R7W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R7W|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R7W|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	7			R -> W (does not affect protein secretion; dbSNP:rs34024143). {ECO:0000269|PubMed:11586351, ECO:0000269|Ref.6}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCGTCACCCCCGGGCAAGATG	0.632													C|||	264	0.0527157	0.0356	0.0735	5008	,	,		16616	0.006		0.1262	False		,,,				2504	0.0337				p.R7W		Atlas-SNP	.											ADAMTS13,colon,carcinoma,-2,1	ADAMTS13	113	1	0			c.C19T						scavenged	.	C	TRP/ARG,TRP/ARG,TRP/ARG	228,4178	136.5+/-172.5	3,222,1978	84	78	80		19,19,19	-6.6	0	9	dbSNP_126	80	1071,7529	225.5+/-261.6	66,939,3295	yes	missense,missense,missense	ADAMTS13	NM_139025.3,NM_139026.3,NM_139027.3	101,101,101	69,1161,5273	TT,TC,CC		12.4535,5.1748,9.9877	benign,benign,benign	7/1428,7/1341,7/1372	136287582	1299,11707	2203	4300	6503	SO:0001583	missense	11093	exon1			CACCCCCGGGCAA	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.19C>T	9.37:g.136287582C>T	ENSP00000360997:p.Arg7Trp	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	64	34	0.53125	NM_139026	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	153	0.07005494505494506	26	0.052845528455284556	26	0.0718232044198895	5	0.008741258741258742	96	0.1266490765171504	C	9.203	1.028867	0.19512	0.051748	0.124535	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911	T;T;T;T;D	0.85339	-0.13;-1.45;-0.17;-0.2;-1.97	3.35	-6.55	0.01854	.	.	.	.	.	T	0.01061	0.0035	N	0.04880	-0.145	0.80722	P	0.0	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	0.11421	-1.0588	8	0.45353	T	0.12	.	1.1031	0.01688	0.1589:0.3274:0.1622:0.3515	rs34024143;rs36218241	7;7;7;7	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	W	7	ENSP00000360997:R7W;ENSP00000360984:R7W;ENSP00000347927:R7W;ENSP00000348997:R7W;ENSP00000360979:R7W	ENSP00000347927:R7W	R	+	1	2	ADAMTS13	135277403	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.569000	0.02142	-1.237000	0.02539	-1.311000	0.01308	CGG	C|0.905;T|0.095	0.095	strong		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		T	136287582	C	T	136287582	3	4	23	1	0	0	0	0	1	0	0	0	258	643	23	1	21	1	ADAMTS13	9	136287582	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7647	136287582	4925849	2407	18863										
ADAMTS13	11093	hgsc.bcm.edu	37	chr9	136324239	136324239	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcggggccagtactggacCctccaatcatgggtaccgga	13	13	1	0	rs1055432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136324239C>A	ENST00000371929.3	+	29	4665	c.4221C>A	c.(4219-4221)acC>acA	p.T1407T	CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.T1320T|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000371910.1_Silent_p.T203T|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000355699.2_Silent_p.T1351T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1407	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGTACTGGACCCTCCAATCAT	0.592													C|||	1155	0.230631	0.025	0.3271	5008	,	,		17137	0.1925		0.334	False		,,,				2504	0.3732				p.T1407T		Atlas-SNP	.											.	ADAMTS13	113	.	0			c.C4221A						PASS	.	C	,,	333,4065	171.9+/-202.1	22,289,1888	40	37	38		4221,3960,4053	3	0.7	9	dbSNP_86	38	2881,5717	444.4+/-360.7	466,1949,1884	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMTS13	NM_139025.3,NM_139026.3,NM_139027.3	,,	488,2238,3772	AA,AC,CC		33.5078,7.5716,24.7307	,,	1407/1428,1320/1341,1351/1372	136324239	3214,9782	2199	4299	6498	SO:0001819	synonymous_variant	11093	exon29			CTGGACCCTCCAA	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4221C>A	9.37:g.136324239C>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	139	73	0.52518	NM_139025	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	CCDS6970.1																																																																																			C|0.769;A|0.231	0.231	strong		0.592	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		A	136324239	C	A	136324239	2	1	23	1	0	0	0	0	0	0	0	1	258	610	22	4		4	ADAMTS13	9	136324239	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	36657	136324239	4889192	2408	18864										
ADAMTSL2	9719	hgsc.bcm.edu	37	chr9	136412296	136412296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaccggaatcgagtacatCgtggcacaggggcccaccaa	13	12	0	1	rs2073877	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136412296C>T	ENST00000354484.4	+	9	1457	c.900C>T	c.(898-900)atC>atT	p.I300I	ADAMTSL2_ENST00000393061.3_Silent_p.I409I|ADAMTSL2_ENST00000393060.1_Silent_p.I300I	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	300					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TCGAGTACATCGTGGCACAGG	0.607													C|||	480	0.0958466	0.0129	0.0951	5008	,	,		17249	0.1419		0.1521	False		,,,				2504	0.1033				p.I300I		Atlas-SNP	.											.	ADAMTSL2	40	.	0			c.C900T						PASS	.	C	,	170,4236	113.3+/-151.4	4,162,2037	150	143	145		900,900	-6	0.9	9	dbSNP_96	145	1105,7495	229.7+/-264.3	79,947,3274	no	coding-synonymous,coding-synonymous	ADAMTSL2	NM_001145320.1,NM_014694.3	,	83,1109,5311	TT,TC,CC		12.8488,3.8584,9.8032	,	300/952,300/952	136412296	1275,11731	2203	4300	6503	SO:0001819	synonymous_variant	9719	exon9			GTACATCGTGGCA	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.900C>T	9.37:g.136412296C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_014694	B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	CCDS6976.1																																																																																			C|0.895;T|0.105	0.105	strong		0.607	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		T	136412296	C	T	136412296	2	4	23	1	0	0	0	0	0	0	0	1	275	874	31	1		1	ADAMTSL2	9	136412296	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	88057	136412296	4801135	2409	18865										
DBH	1621	hgsc.bcm.edu	37	chr9	136522274	136522274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccctggaactccttcaacCgcgacgtactgaaggccctg	9	15	1	1	rs6271	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136522274C>T	ENST00000393056.2	+	11	1657	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	549			R -> C (in dbSNP:rs6271). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:3443096}.		behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTCCTTCAACCGCGACGTACT	0.612													C|||	104	0.0207668	0.0053	0.0447	5008	,	,		16323	0.0		0.0606	False		,,,				2504	0.0051				p.R549C		Atlas-SNP	.											.	DBH	86	.	0			c.C1645T	GRCh37	CM054656	DBH	M	rs6271	PASS	.	C	CYS/ARG	57,4349	56.2+/-92.4	0,57,2146	166	120	136		1645	4.2	0	9	dbSNP_52	136	656,7944	166.4+/-218.3	25,606,3669	yes	missense	DBH	NM_000787.3	180	25,663,5815	TT,TC,CC		7.6279,1.2937,5.4821	possibly-damaging	549/618	136522274	713,12293	2203	4300	6503	SO:0001583	missense	1621	exon11			TTCAACCGCGACG	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1645C>T	9.37:g.136522274C>T	ENSP00000376776:p.Arg549Cys	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	204	98	0.480392	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	71	0.03250915750915751	1	0.0020325203252032522	26	0.0718232044198895	0	0.0	44	0.05804749340369393	C	10.61	1.397932	0.25205	0.012937	0.076279	ENSG00000123454	ENST00000393056	T	0.49432	0.78	5.07	4.16	0.48862	.	0.346260	0.30492	N	0.009514	T	0.04815	0.0130	M	0.78223	2.4	0.19300	N	0.99997	D	0.57899	0.981	P	0.47162	0.54	T	0.07888	-1.0749	10	0.54805	T	0.06	-26.8568	8.555	0.33476	0.3682:0.5038:0.128:0.0	rs6271;rs6271	549	P09172	DOPO_HUMAN	C	549	ENSP00000376776:R549C	ENSP00000376776:R549C	R	+	1	0	DBH	135512095	0.996000	0.38824	0.028000	0.17463	0.046000	0.14306	3.394000	0.52551	1.109000	0.41680	-0.500000	0.04577	CGC	C|0.956;T|0.044	0.044	strong		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136522274	C	T	136522274	3	4	23	1	0	0	0	0	1	0	0	0	4250	652	23	1	1687	1	DBH	9	136522274	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	109978	136522274	4691157	2410	18866										
SARDH	1757	hgsc.bcm.edu	37	chr9	136536679	136536679	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcaatgctcagggagtcGatggcgcggtaccctgcgtt	13	11	2	0	rs129932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136536679G>A	ENST00000371872.4	-	18	2561	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	SARDH_ENST00000422262.2_Silent_p.I600I|SARDH_ENST00000439388.1_Silent_p.I768I|SARDH_ENST00000371868.1_Silent_p.I196I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	768					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAGGGAGTCGATGGCGCGGT	0.677													G|||	2921	0.583267	0.6483	0.5879	5008	,	,		16133	0.7569		0.4523	False		,,,				2504	0.4479				p.I768I		Atlas-SNP	.											.	SARDH	112	.	0			c.C2304T						PASS	.	G	,	2540,1858		742,1056,401	38	31	33		2304,2304	-0.1	1	9	dbSNP_78	33	3712,4876		793,2126,1375	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	1535,3182,1776	AA,AG,GG		43.2231,42.2465,48.1442	,	768/919,768/919	136536679	6252,6734	2199	4294	6493	SO:0001819	synonymous_variant	1757	exon18			GGAGTCGATGGCG		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2304C>T	9.37:g.136536679G>A		Somatic	250	1	0.004		WXS	Illumina HiSeq	Phase_I	225	104	0.462222	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			G|0.464;A|0.536	0.536	strong		0.677	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			A	136536679	G	A	136536679	2	1	23	1	0	0	0	0	0	0	0	1	13841	1048	37	1		1	SARDH	9	136536679	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14405	136536679	4676752	2411	18867										
SARDH	1757	hgsc.bcm.edu	37	chr9	136561367	136561367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggtcggctgacatctgcGgagaagagccagtcggcagc	18	10	1	3	rs2502740	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136561367G>A	ENST00000371872.4	-	14	2042	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SARDH_ENST00000422262.2_Silent_p.S427S|SARDH_ENST00000439388.1_Silent_p.S595S|SARDH_ENST00000371868.1_Silent_p.S23S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	595					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGACATCTGCGGAGAAGAGCC	0.617																																					p.S595S		Atlas-SNP	.											SARDH,NS,carcinoma,0,1	SARDH	112	1	0			c.C1785T						PASS	.	A	,	656,3750	276.0+/-272.9	77,502,1624	61	56	58		1785,1785	-10	0	9	dbSNP_100	58	2932,5668	458.5+/-364.6	508,1916,1876	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	585,2418,3500	AA,AG,GG		34.093,14.8888,27.5873	,	595/919,595/919	136561367	3588,9418	2203	4300	6503	SO:0001819	synonymous_variant	1757	exon14			ATCTGCGGAGAAG		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1785C>T	9.37:g.136561367G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	61	26	0.42623	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			G|0.744;A|0.256	0.256	strong		0.617	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			A	136561367	G	A	136561367	2	1	23	1	0	0	0	0	0	0	0	1	13841	1103	39	1		1	SARDH	9	136561367	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24688	136561367	4652064	2412	18868										
SARDH	1757	hgsc.bcm.edu	37	chr9	136573412	136573412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgtaggggcgttacctcGtgcagcgggtctctcctcat	13	12	2	0	rs2073815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136573412G>A	ENST00000371872.4	-	11	1724	c.1467C>T	c.(1465-1467)caC>caT	p.H489H	SARDH_ENST00000422262.2_Silent_p.H321H|SARDH_ENST00000439388.1_Silent_p.H489H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	489					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGTTACCTCGTGCAGCGGGT	0.637													G|||	2123	0.423922	0.2254	0.464	5008	,	,		17063	0.4891		0.5577	False		,,,				2504	0.4591				p.H489H		Atlas-SNP	.											SARDH,NS,carcinoma,0,2	SARDH	112	2	0			c.C1467T						PASS	.	G	,	1190,3216	415.0+/-337.0	157,876,1170	73	66	68		1467,1467	0.6	1	9	dbSNP_96	68	4982,3618	625.8+/-397.8	1437,2108,755	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	1594,2984,1925	AA,AG,GG		42.0698,27.0086,47.455	,	489/919,489/919	136573412	6172,6834	2203	4300	6503	SO:0001819	synonymous_variant	1757	exon11			TACCTCGTGCAGC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1467C>T	9.37:g.136573412G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	67	67	1	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																			G|0.539;A|0.461	0.461	strong		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			A	136573412	G	A	136573412	2	1	23	1	0	0	0	0	0	0	0	1	13841	1136	40	1		1	SARDH	9	136573412	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12045	136573412	4640019	2413	18869										
VAV2	7410	hgsc.bcm.edu	37	chr9	136643994	136643994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgccatggtaattctgcaTggccaccatcttgggacctg	11	11	2	0	rs602990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136643994T>C	ENST00000371850.3	-	22	1811	c.1780A>G	c.(1780-1782)Atg>Gtg	p.M594V	VAV2_ENST00000371851.1_Missense_Mutation_p.M584V|VAV2_ENST00000406606.3_Missense_Mutation_p.M584V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	594	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.		M -> V (in dbSNP:rs602990). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7762982}.		angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M584V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TAATTCTGCATGGCCACCATC	0.632													C|||	2480	0.495208	0.8404	0.4798	5008	,	,		15534	0.0645		0.5189	False		,,,				2504	0.4591				p.M594V		Atlas-SNP	.											VAV2,NS,carcinoma,0,1	VAV2	165	1	1	Substitution - Missense(1)	stomach(1)	c.A1780G						PASS	.	C	VAL/MET,VAL/MET	3543,863	334.9+/-303.7	1426,691,86	61	56	58		1780,1750	1.9	0.3	9	dbSNP_83	58	4549,4051	556.6+/-386.9	1186,2177,937	yes	missense,missense	VAV2	NM_001134398.1,NM_003371.3	21,21	2612,2868,1023	CC,CT,TT		47.1047,19.5869,37.7826	benign,benign	594/879,584/840	136643994	8092,4914	2203	4300	6503	SO:0001583	missense	7410	exon22			TCTGCATGGCCAC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1780A>G	9.37:g.136643994T>C	ENSP00000360916:p.Met594Val	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	1007	0.4610805860805861	413	0.8394308943089431	175	0.48342541436464087	18	0.03146853146853147	401	0.5290237467018469	C	0.795	-0.757601	0.03019	0.804131	0.528953	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.06068	3.35;3.35;3.35	4.8	1.91	0.25777	Src homology-3 domain (3);Variant SH3 (1);	0.290997	0.33075	N	0.005314	T	0.00012	0.0000	N	0.02539	-0.55	0.54753	P	1.799999999996249E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19128	-1.0315	9	0.08179	T	0.78	.	13.6487	0.62297	0.0:0.8398:0.0:0.1602	rs602990;rs61232391;rs602990	584;594;584	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	V	594;584;584;584	ENSP00000360916:M594V;ENSP00000360917:M584V;ENSP00000385362:M584V	ENSP00000317258:M584V	M	-	1	0	VAV2	135633815	0.339000	0.24784	0.298000	0.25002	0.741000	0.42261	0.920000	0.28705	0.116000	0.18110	-2.599000	0.00162	ATG	T|0.441;C|0.559	0.559	strong		0.632	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			C	136643994	T	C	136643994	3	2	23	1	0	0	0	0	1	0	0	0	17129	1464	51	2	892	2	VAV2	9	136643994	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	70582	136643994	4569437	2414	18870										
BRD3	8019	hgsc.bcm.edu	37	chr9	136901254	136901254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaagtcaatttctatctcGtcggggttggagtccctgag	11	9	4	1	rs448698	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:136901254G>A	ENST00000303407.7	-	10	2021	c.1836C>T	c.(1834-1836)gaC>gaT	p.D612D	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	612	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTTCTATCTCGTCGGGGTTGG	0.527			T	C15orf55	lethal midline carcinoma of young people								G|||	55	0.0109824	0.003	0.0245	5008	,	,		19407	0.0		0.0258	False		,,,				2504	0.0082				p.D612D		Atlas-SNP	.		Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	BRD3	82	.	0			c.C1836T						PASS	.	G		34,4372	39.2+/-71.8	2,30,2171	81	82	82		1836	-3.3	0.9	9	dbSNP_80	82	283,8317	105.0+/-166.0	6,271,4023	no	coding-synonymous	BRD3	NM_007371.3		8,301,6194	AA,AG,GG		3.2907,0.7717,2.4373		612/727	136901254	317,12689	2203	4300	6503	SO:0001819	synonymous_variant	8019	exon10			TATCTCGTCGGGG		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1836C>T	9.37:g.136901254G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	201	107	0.532338	NM_007371	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	CCDS6980.1																																																																																			G|0.979;A|0.021	0.021	strong		0.527	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		A	136901254	G	A	136901254	2	1	23	1	0	0	0	0	0	0	0	1	1503	1136	40	1		1	BRD3	9	136901254	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	257260	136901254	4312177	2415	18871										
WDR5	11091	hgsc.bcm.edu	37	chr9	137017126	137017126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcatctgggacaccgcctcAggccagtgcctgaagacgct	12	15	2	2	rs34523253	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:137017126A>G	ENST00000358625.3	+	9	777	c.606A>G	c.(604-606)tcA>tcG	p.S202S	WDR5_ENST00000425041.1_Silent_p.S202S	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	202					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACACCGCCTCAGGCCAGTGCC	0.562													G|||	394	0.0786741	0.2489	0.0375	5008	,	,		18445	0.0		0.0328	False		,,,				2504	0.0061				p.S202S		Atlas-SNP	.											WDR5,NS,carcinoma,+1,1	WDR5	29	1	0			c.A606G						PASS	.	G	,	925,3481	737.9+/-410.9	90,745,1368	158	157	157		606,606	-7.5	0	9	dbSNP_126	157	247,8353	808.4+/-407.2	4,239,4057	no	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	94,984,5425	GG,GA,AA		2.8721,20.9941,9.0112	,	202/335,202/335	137017126	1172,11834	2203	4300	6503	SO:0001819	synonymous_variant	11091	exon8			CGCCTCAGGCCAG	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.606A>G	9.37:g.137017126A>G		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	143	73	0.51049	NM_052821	Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	CCDS6981.1																																																																																			A|0.920;G|0.080	0.080	strong		0.562	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		G	137017126	A	G	137017126	2	3	23	1	0	0	0	0	0	0	0	1	17300	175	7	3		3	WDR5	9	137017126	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	115872	137017126	4196305	2416	18872										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137686951	137686951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccctggaaagccaggaccGcgggggcagcgaggcccaac	15	15	0	0	rs41310207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:137686951G>A	ENST00000371817.3	+	33	3138	c.2724G>A	c.(2722-2724)ccG>ccA	p.P908P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	908	Triple-helical region.		P -> L (found in a renal cell carcinoma case; somatic mutation). {ECO:0000269|PubMed:21248752}.		axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCAGGACCGCGGGGGCAGC	0.622													G|||	63	0.0125799	0.0015	0.0187	5008	,	,		15385	0.001		0.0408	False		,,,				2504	0.0061				p.P908P		Atlas-SNP	.											COL5A1,NS,carcinoma,+1,1	COL5A1	323	1	0			c.G2724A						PASS	.	G		23,4383	29.9+/-59.1	0,23,2180	51	59	56		2724	-8.9	1	9	dbSNP_127	56	325,8275	114.4+/-174.4	9,307,3984	no	coding-synonymous	COL5A1	NM_000093.3		9,330,6164	AA,AG,GG		3.7791,0.522,2.6757		908/1839	137686951	348,12658	2203	4300	6503	SO:0001819	synonymous_variant	1289	exon33			AGGACCGCGGGGG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2724G>A	9.37:g.137686951G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	93	49	0.526882	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			G|0.975;A|0.025	0.025	strong		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137686951	G	A	137686951	2	1	23	1	0	0	0	0	0	0	0	1	3696	1074	38	1		1	COL5A1	9	137686951	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	669825	137686951	3526480	2417	18873										
COL5A1	1289	hgsc.bcm.edu	37	chr9	137734084	137734084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatcgtggacatcatgttcAatgacttcggtgaagcgtca	10	10	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:137734084A>G	ENST00000371817.3	+	66	5866	c.5452A>G	c.(5452-5454)Aat>Gat	p.N1818D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1818	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CATCATGTTCAATGACTTCGG	0.577																																					p.N1818D		Atlas-SNP	.											.	COL5A1	323	.	0			c.A5452G						PASS	.						129	125	126					9																	137734084		2203	4300	6503	SO:0001583	missense	1289	exon66			ATGTTCAATGACT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5452A>G	9.37:g.137734084A>G	ENSP00000360882:p.Asn1818Asp	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	144	68	0.472222	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114962	0.56505	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73152	-0.72	4.72	4.72	0.59763	Fibrillar collagen, C-terminal (4);	0.069214	0.53938	U	0.000046	T	0.69278	0.3093	M	0.70595	2.14	0.42323	D	0.992266	P	0.38280	0.625	B	0.37508	0.252	T	0.70575	-0.4834	10	0.33940	T	0.23	.	14.1846	0.65598	1.0:0.0:0.0:0.0	.	1818	P20908	CO5A1_HUMAN	D	1818;355	ENSP00000360882:N1818D	ENSP00000347458:N355D	N	+	1	0	COL5A1	136873905	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.057000	0.93889	1.765000	0.52091	0.460000	0.39030	AAT	.	.	none		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		G	137734084	A	G	137734084	3	3	23	1	0	0	0	0	1	0	0	0	3696	130	5	2	5714	2	COL5A1	9	137734084	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	47133	137734084	3479347	2418	18874										
FCN2	2220	hgsc.bcm.edu	37	chr9	137775155	137775155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggaaattgcaggagaacgTggcccccctggacctcctgg	13	12	0	1	rs4520243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:137775155T>C	ENST00000291744.6	+	3	232	c.222T>C	c.(220-222)cgT>cgC	p.R74R	FCN2_ENST00000350339.2_Silent_p.R36R	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	74	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGGAGAACGTGGCCCCCCTG	0.597													C|||	1880	0.375399	0.3222	0.2997	5008	,	,		16091	0.4097		0.3718	False		,,,				2504	0.4693				p.R74R		Atlas-SNP	.											.	FCN2	55	.	0			c.T222C						PASS	.	C	,	1509,2897	675.0+/-403.0	253,1003,947	85	82	83		222,108	-3	0	9	dbSNP_111	83	2986,5614	665.3+/-402.3	547,1892,1861	no	coding-synonymous,coding-synonymous	FCN2	NM_004108.2,NM_015837.2	,	800,2895,2808	CC,CT,TT		34.7209,34.2488,34.561	,	74/314,36/276	137775155	4495,8511	2203	4300	6503	SO:0001819	synonymous_variant	2220	exon3			AGAACGTGGCCCC	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.222T>C	9.37:g.137775155T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_004108	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	CCDS6983.1																																																																																			T|0.642;C|0.358	0.358	strong		0.597	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		C	137775155	T	C	137775155	2	2	23	1	0	0	0	0	0	0	0	1	5792	1683	59	2		2	FCN2	9	137775155	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	41071	137775155	3438276	2419	18875										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138377498	138377498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaccagctgcagaaaacacGcaaggaggccgacggggacc	14	12	0	1	rs34151777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:138377498G>T	ENST00000356818.2	+	4	1691	c.1142G>T	c.(1141-1143)cGc>cTc	p.R381L	PPP1R26_ENST00000401470.3_Missense_Mutation_p.R381L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R381L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R381L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R381L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	381					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAAAACACGCAAGGAGGCC	0.632													G|||	114	0.0227636	0.003	0.0476	5008	,	,		18578	0.0		0.0746	False		,,,				2504	0.002				p.R381L		Atlas-SNP	.											.	.	.	.	0			c.G1142T						PASS	.	G	LEU/ARG	50,4356	47.5+/-82.1	1,48,2154	40	45	44		1142	4.9	0.9	9	dbSNP_126	44	580,8020	146.6+/-202.2	21,538,3741	no	missense	KIAA0649	NM_014811.3	102	22,586,5895	TT,TG,GG		6.7442,1.1348,4.8439	probably-damaging	381/1210	138377498	630,12376	2203	4300	6503	SO:0001583	missense	9858	exon4			AAACACGCAAGGA	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1142G>T	9.37:g.138377498G>T	ENSP00000349274:p.Arg381Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	77	0.035256410256410256	1	0.0020325203252032522	18	0.049723756906077346	0	0.0	58	0.07651715039577836	G	17.96	3.515599	0.64634	0.011348	0.067442	ENSG00000196422	ENST00000356818	T	0.17054	2.3	4.92	4.92	0.64577	.	0.215951	0.37715	N	0.001969	T	0.02848	0.0085	M	0.68593	2.085	0.23430	P	0.99769767	D	0.89917	1.0	D	0.91635	0.999	T	0.01570	-1.1322	9	0.87932	D	0	-6.0072	17.1139	0.86683	0.0:0.0:1.0:0.0	rs34151777	381	Q5T8A7	PPR26_HUMAN	L	381	ENSP00000349274:R381L	ENSP00000349274:R381L	R	+	2	0	KIAA0649	137517319	0.960000	0.32886	0.921000	0.36526	0.014000	0.08584	2.336000	0.43938	2.262000	0.75019	0.655000	0.94253	CGC	G|0.956;T|0.044	0.044	strong		0.632	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		T	138377498	G	T	138377498	3	4	23	1	0	0	0	0	1	0	0	0	8187	1087	38	4	1144	4	KIAA0649	9	138377498	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	602343	138377498	2835933	2420	18876										
KCNT1	57582	hgsc.bcm.edu	37	chr9	138662273	138662273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaagagcttcacctacgcGgccttccacgcccacaagaa	9	16	1	2	rs17038714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:138662273G>A	ENST00000263604.3	+	17	1692	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A	KCNT1_ENST00000488444.2_Silent_p.A564A|KCNT1_ENST00000486577.2_Silent_p.A544A|KCNT1_ENST00000490355.2_Silent_p.A564A|KCNT1_ENST00000491806.2_Silent_p.A550A|KCNT1_ENST00000487664.1_Silent_p.A538A|KCNT1_ENST00000298480.5_Silent_p.A583A|KCNT1_ENST00000371757.2_Silent_p.A583A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	564	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCACCTACGCGGCCTTCCACG	0.647													G|||	1780	0.355431	0.4924	0.1772	5008	,	,		15769	0.4147		0.2217	False		,,,				2504	0.3732				p.A583A		Atlas-SNP	.											.	KCNT1	139	.	0			c.G1749A						PASS	.	G		2074,2330	558.6+/-380.0	487,1100,615	86	66	73		1749	-3.1	1	9	dbSNP_123	73	1784,6816	317.8+/-313.4	193,1398,2709	no	coding-synonymous	KCNT1	NM_020822.2		680,2498,3324	AA,AG,GG		20.7442,47.0936,29.6678		583/1236	138662273	3858,9146	2202	4300	6502	SO:0001819	synonymous_variant	57582	exon17			CTACGCGGCCTTC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1692G>A	9.37:g.138662273G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	101	39	0.386139	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																				G|0.695;A|0.305	0.305	strong		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138662273	G	A	138662273	2	1	23	1	0	0	0	0	0	0	0	1	8091	1103	39	1		1	KCNT1	9	138662273	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	284775	138662273	2551158	2421	18877										
CAMSAP1	157922	hgsc.bcm.edu	37	chr9	138742077	138742077	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaataaaaaccataacattCggctaaaagacaaaaacaaa	4	8	0	1	rs35981196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:138742077C>G	ENST00000389532.4	-	7	1015	c.951G>C	c.(949-951)ccG>ccC	p.P317P	CAMSAP1_ENST00000409386.3_Silent_p.P328P|CAMSAP1_ENST00000312405.6_Silent_p.P39P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	317	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCATAACATTCGGCTAAAAGA	0.378													C|||	609	0.121605	0.2057	0.0879	5008	,	,		18956	0.0		0.1322	False		,,,				2504	0.1462				p.P317P		Atlas-SNP	.											.	CAMSAP1	142	.	0			c.G951C						PASS	.	C		884,3522	337.3+/-304.8	105,674,1424	44	42	43		951	-10.7	0	9	dbSNP_126	43	1523,7077	283.9+/-296.4	134,1255,2911	no	coding-synonymous	CAMSAP1	NM_015447.3		239,1929,4335	GG,GC,CC		17.7093,20.0635,18.5068		317/1603	138742077	2407,10599	2203	4300	6503	SO:0001819	synonymous_variant	157922	exon7			AACATTCGGCTAA	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.951G>C	9.37:g.138742077C>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	93	43	0.462366	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																			C|0.836;G|0.164	0.164	strong		0.378	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		G	138742077	C	G	138742077	2	3	23	1	0	0	0	0	0	0	0	1	2611	871	31	4		4	CAMSAP1	9	138742077	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	79804	138742077	2471354	2422	18878										
QSOX2	169714	hgsc.bcm.edu	37	chr9	139115921	139115921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttctgcaggaagtcaatCatcgtctgtctgactgttcg	11	9	5	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139115921C>T	ENST00000358701.5	-	4	553	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	172	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.M172I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGAAGTCAATCATCGTCTGTC	0.617																																					p.M172I		Atlas-SNP	.											QSOX2,NS,carcinoma,0,1	QSOX2	63	1	1	Substitution - Missense(1)	lung(1)	c.G516A						scavenged	.						124	109	114					9																	139115921		2203	4300	6503	SO:0001583	missense	169714	exon4			GTCAATCATCGTC	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.516G>A	9.37:g.139115921C>T	ENSP00000351536:p.Met172Ile	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	167	4	0.0239521	NM_181701	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.85|11.85	1.761210|1.761210	0.31137|0.31137	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000455222|ENST00000358701;ENST00000389471	.|T	.|0.67698	.|-0.28	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Thioredoxin-like fold (2);	.|0.043794	.|0.85682	.|D	.|0.000000	T|T	0.58566|0.58566	0.2131|0.2131	N|N	0.20357|0.20357	0.565|0.565	0.54753|0.54753	D|D	0.999989|0.999989	.|P	.|0.42375	.|0.778	.|P	.|0.49332	.|0.607	T|T	0.53301|0.53301	-0.8458|-0.8458	5|10	.|0.16420	.|T	.|0.52	-45.1021|-45.1021	12.7405|12.7405	0.57251|0.57251	0.1642:0.8358:0.0:0.0|0.1642:0.8358:0.0:0.0	.|.	.|172	.|Q6ZRP7	.|QSOX2_HUMAN	N|I	19|172;50	.|ENSP00000351536:M172I	.|ENSP00000351536:M172I	D|M	-|-	1|3	0|0	QSOX2|QSOX2	138255742|138255742	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.511000|0.511000	0.34104|0.34104	4.957000|4.957000	0.63652|0.63652	2.419000|2.419000	0.82065|0.82065	0.467000|0.467000	0.42956|0.42956	GAT|ATG	.	.	none		0.617	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		T	139115921	C	T	139115921	3	4	23	1	0	0	0	0	1	0	0	0	12884	826	29	2	1616	2	QSOX2	9	139115921	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	373844	139115921	2097510	2423	18879										
SEC16A	9919	hgsc.bcm.edu	37	chr9	139370217	139370217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggttttaccccaactaaGtgagattttaccggttcgaa	8	8	0	1	rs76562693	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139370217G>A	ENST00000371706.3	-	1	1350	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	SEC16A_ENST00000431893.2_Silent_p.H439H|SEC16A_ENST00000290037.6_Silent_p.H439H|SEC16A_ENST00000313050.7_Silent_p.H617H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	439					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)		CCCCAACTAAGTGAGATTTTA	0.547													G|||	136	0.0271565	0.003	0.0447	5008	,	,		18314	0.0		0.0696	False		,,,				2504	0.0317				p.H617H		Atlas-SNP	.											SEC16A_NM_014866.1,NS,haematopoietic_neoplasm,0,2	SEC16A	249	2	0			c.C1851T						PASS	.	G		63,4083		0,63,2010	37	38	38		1851	1.2	0.3	9	dbSNP_132	38	592,7816		15,562,3627	yes	coding-synonymous	SEC16A	NM_014866.1		15,625,5637	AA,AG,GG		7.0409,1.5195,5.2175		617/2358	139370217	655,11899	2073	4204	6277	SO:0001819	synonymous_variant	9919	exon3			AACTAAGTGAGAT	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.1317C>T	9.37:g.139370217G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	44	0.571429	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																				G|0.965;A|0.035	0.035	strong		0.547	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139370217	G	A	139370217	2	1	23	1	0	0	0	0	0	0	0	1	13986	1020	36	2		2	SEC16A	9	139370217	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	254296	139370217	1843214	2424	18880										
FAM69B	138311	hgsc.bcm.edu	37	chr9	139617836	139617836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgagaccacactggccaaCgtgggctacacagccaccta	10	14	0	1	rs6874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139617836C>T	ENST00000371692.4	+	5	1002	c.906C>T	c.(904-906)aaC>aaT	p.N302N	SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.N215N|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	302						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACTGGCCAACGTGGGCTACA	0.647													C|||	317	0.0632987	0.0424	0.0735	5008	,	,		17740	0.001		0.1193	False		,,,				2504	0.091				p.N302N		Atlas-SNP	.											.	FAM69B	22	.	0			c.C906T						PASS	.	C		247,4159	136.1+/-172.1	5,237,1961	44	46	45		906	1.8	1	9	dbSNP_52	45	1057,7543	213.5+/-253.4	69,919,3312	no	coding-synonymous	FAM69B	NM_152421.3		74,1156,5273	TT,TC,CC		12.2907,5.606,10.0261		302/432	139617836	1304,11702	2203	4300	6503	SO:0001819	synonymous_variant	138311	exon5			GGCCAACGTGGGC		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.906C>T	9.37:g.139617836C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	73	30	0.410959	NM_152421	Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	CCDS7004.1																																																																																			C|0.915;T|0.085	0.085	strong		0.647	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		T	139617836	C	T	139617836	2	4	23	1	0	0	0	0	0	0	0	1	5603	535	19	1		1	FAM69B	9	139617836	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	247619	139617836	1595595	2425	18881										
C9orf172	389813	hgsc.bcm.edu	37	chr9	139740436	139740436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgcgcgggcgagggcctgGgccgcaactggtacgtgacg	19	13	0	1	rs375030600		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139740436G>A	ENST00000436881.1	+	1	1570	c.1570G>A	c.(1570-1572)Ggc>Agc	p.G524S	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	524										endometrium(2)|large_intestine(1)|lung(6)	9						CGAGGGCCTGGGCCGCAACTG	0.711																																					p.G524S		Atlas-SNP	.											.	C9orf172	23	.	0			c.G1570A						PASS	.	G	SER/GLY	0,3880		0,0,1940	7	8	8		1570	1.4	1	9		8	1,8013		0,1,4006	no	missense	C9orf172	NM_001080482.2	56	0,1,5946	AA,AG,GG		0.0125,0.0,0.0084	possibly-damaging	524/977	139740436	1,11893	1940	4007	5947	SO:0001583	missense	389813	exon1			GGCCTGGGCCGCA		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1570G>A	9.37:g.139740436G>A	ENSP00000412388:p.Gly524Ser	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	63	37	0.587302	NM_001080482		Missense_Mutation	SNP	ENST00000436881.1	37	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	7.729	0.698804	0.15106	0.0	1.25E-4	ENSG00000232434	ENST00000436881	.	.	.	3.54	1.41	0.22369	.	.	.	.	.	T	0.18718	0.0449	N	0.12746	0.255	0.26736	N	0.970498	P	0.36683	0.565	B	0.34385	0.181	T	0.12319	-1.0552	8	0.30078	T	0.28	-13.7135	9.0585	0.36421	0.2261:0.0:0.7739:0.0	.	524	C9J069	CI172_HUMAN	S	524	.	ENSP00000412388:G524S	G	+	1	0	C9orf172	138860257	0.337000	0.24766	0.990000	0.47175	0.802000	0.45316	0.645000	0.24782	0.670000	0.31165	0.472000	0.43445	GGC	.	.	weak		0.711	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		A	139740436	G	A	139740436	3	1	23	1	0	0	0	0	1	0	0	0	2471	1232	43	2	1572	2	C9orf172	9	139740436	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	122600	139740436	1472995	2426	18882										
PHPT1	29085	hgsc.bcm.edu	37	chr9	139744524	139744524	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggctgcgactgtgagtgtCtgggcggcgggcgcatctcc	17	11	2	1	rs8666	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139744524C>T	ENST00000247665.10	+	2	557	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_Silent_p.L74L|PHPT1_ENST00000545326.1_Silent_p.L74L	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	74					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGTGAGTGTCTGGGCGGCGG	0.662													C|||	214	0.0427316	0.0015	0.0202	5008	,	,		14400	0.0089		0.0318	False		,,,				2504	0.1605				p.L74L		Atlas-SNP	.											.	PHPT1	14	.	0			c.C220T						PASS	.	C	,	33,4373		0,33,2170	104	100	101		220,220	4.6	1	9	dbSNP_52	101	283,8317		5,273,4022	no	coding-synonymous,coding-synonymous	PHPT1	NM_001135861.1,NM_014172.4	,	5,306,6192	TT,TC,CC		3.2907,0.749,2.4296	,	74/125,74/126	139744524	316,12690	2203	4300	6503	SO:0001819	synonymous_variant	29085	exon2			GAGTGTCTGGGCG	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.220C>T	9.37:g.139744524C>T		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	176	82	0.465909	NM_001135861	B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	CCDS7009.1																																																																																			C|0.972;T|0.028	0.028	strong		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		T	139744524	C	T	139744524	2	4	23	1	0	0	0	0	0	0	0	1	11860	912	32	2		2	PHPT1	9	139744524	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4088	139744524	1468907	2427	18883										
FBXW5	54461	hgsc.bcm.edu	37	chr9	139836694	139836694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagaaagtgccgcaagccCtccttggcgtgggcgggggc	16	13	0	1	rs34391108	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139836694C>T	ENST00000325285.3	-	6	979	c.900G>A	c.(898-900)gaG>gaA	p.E300E	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	300					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCCGCAAGCCCTCCTTGGCGT	0.711													C|||	176	0.0351438	0.0023	0.0259	5008	,	,		15047	0.004		0.0477	False		,,,				2504	0.1053				p.E300E		Atlas-SNP	.											.	FBXW5	36	.	0			c.G900A						PASS	.	C		38,4292		1,36,2128	11	14	13		900	0.9	0.9	9	dbSNP_126	13	318,8216		4,310,3953	no	coding-synonymous	FBXW5	NM_018998.2		5,346,6081	TT,TC,CC		3.7263,0.8776,2.7674		300/567	139836694	356,12508	2165	4267	6432	SO:0001819	synonymous_variant	54461	exon6			CAAGCCCTCCTTG	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.900G>A	9.37:g.139836694C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_018998	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	CCDS7014.1																																																																																			C|0.975;T|0.025	0.025	strong		0.711	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		T	139836694	C	T	139836694	2	4	23	1	0	0	0	0	0	0	0	1	5768	680	24	2		2	FBXW5	9	139836694	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92170	139836694	1376737	2428	18884										
ABCA2	20	hgsc.bcm.edu	37	chr9	139905141	139905141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcactcgctgccgctcactGgccacgtccacatcatcctc	7	19	2	0	rs112887513	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:139905141G>A	ENST00000371605.3	-	39	6249	c.6102C>T	c.(6100-6102)gcC>gcT	p.A2034A	ABCA2_ENST00000341511.6_Silent_p.A2035A|ABCA2_ENST00000265662.5_Silent_p.A2035A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2034					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCGCTCACTGGCCACGTCCA	0.637													g|||	329	0.0656949	0.0234	0.0447	5008	,	,		5333	0.0437		0.0586	False		,,,				2504	0.1677				p.A2065A		Atlas-SNP	.											.	ABCA2	113	.	0			c.C6195T						PASS	.	C	,	105,4197		4,97,2050	99	111	107		6105,6195	0.7	0.3	9	dbSNP_132	107	572,7938		15,542,3698	yes	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	19,639,5748	AA,AG,GG		6.7215,2.4407,5.2841	,	2035/2437,2065/2467	139905141	677,12135	2151	4255	6406	SO:0001819	synonymous_variant	20	exon40			CTCACTGGCCACG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6102C>T	9.37:g.139905141G>A		Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	378	194	0.513228	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																				A|0.055;C|0.000;G|0.945	0.055	strong		0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139905141	G	A	139905141	2	1	23	1	0	0	0	0	0	0	0	1	32	1335	47	2		2	ABCA2	9	139905141	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	68447	139905141	1308290	2429	18885										
GRIN1	2902	hgsc.bcm.edu	37	chr9	140051238	140051238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacgccctgcgctacgccccAgacggtgagtgctgggcctt	13	15	0	2	rs6293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:140051238A>G	ENST00000371561.3	+	5	1886	c.789A>G	c.(787-789)ccA>ccG	p.P263P	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.P263P|GRIN1_ENST00000371555.4_Silent_p.P284P|GRIN1_ENST00000350902.5_Silent_p.P263P|GRIN1_ENST00000371553.3_Silent_p.P284P|GRIN1_ENST00000371559.4_Silent_p.P263P|GRIN1_ENST00000371546.4_Silent_p.P284P|GRIN1_ENST00000371550.4_Silent_p.P263P|GRIN1_ENST00000371560.3_Silent_p.P284P	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	263					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTACGCCCCAGACGGTGAGT	0.687													G|||	705	0.140775	0.0287	0.2032	5008	,	,		12489	0.002		0.337	False		,,,				2504	0.1892				p.P284P	NSCLC(113;717 1653 2089 20474 37618)	Atlas-SNP	.											GRIN1,NS,carcinoma,0,2	GRIN1	51	2	0			c.A852G						PASS	.	G	,,,,	285,4099		15,255,1922	20	21	21		789,852,852,789,789	-5.6	0.9	9	dbSNP_52	21	2706,5866		442,1822,2022	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRIN1	NM_000832.6,NM_001185090.1,NM_001185091.1,NM_007327.3,NM_021569.3	,,,,	457,2077,3944	GG,GA,AA		31.5679,6.5009,23.0858	,,,,	263/886,284/944,284/907,263/939,263/902	140051238	2991,9965	2192	4286	6478	SO:0001819	synonymous_variant	2902	exon6			CGCCCCAGACGGT		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.789A>G	9.37:g.140051238A>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	85	39	0.458824	NM_001185091	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	CCDS7031.1																																																																																			A|0.831;G|0.169	0.169	strong		0.687	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		G	140051238	A	G	140051238	2	3	23	1	0	0	0	0	0	0	0	1	6778	175	7	3		3	GRIN1	9	140051238	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	146097	140051238	1162193	2430	18886										
GRIN1	2902	hgsc.bcm.edu	37	chr9	140051376	140051376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccacatcagcgacgccgtGggcgtggtggcccaggccgt	16	15	1	0	rs1126442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:140051376G>A	ENST00000371561.3	+	6	1952	c.855G>A	c.(853-855)gtG>gtA	p.V285V	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.V285V|GRIN1_ENST00000371555.4_Silent_p.V306V|GRIN1_ENST00000350902.5_Silent_p.V285V|GRIN1_ENST00000371553.3_Silent_p.V306V|GRIN1_ENST00000371559.4_Silent_p.V285V|GRIN1_ENST00000371546.4_Silent_p.V306V|GRIN1_ENST00000371550.4_Silent_p.V285V|GRIN1_ENST00000371560.3_Silent_p.V306V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	285					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGACGCCGTGGGCGTGGTGG	0.677													G|||	699	0.139577	0.0265	0.2017	5008	,	,		11686	0.002		0.336	False		,,,				2504	0.1881				p.V306V	NSCLC(113;717 1653 2089 20474 37618)	Atlas-SNP	.											.	GRIN1	51	.	0			c.G918A						PASS	.	G	,,,,	288,4106		12,264,1921	29	31	30		855,918,918,855,855	2.7	1	9	dbSNP_86	30	2741,5845		447,1847,1999	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRIN1	NM_000832.6,NM_001185090.1,NM_001185091.1,NM_007327.3,NM_021569.3	,,,,	459,2111,3920	AA,AG,GG		31.9241,6.5544,23.3359	,,,,	285/886,306/944,306/907,285/939,285/902	140051376	3029,9951	2197	4293	6490	SO:0001819	synonymous_variant	2902	exon7			CGCCGTGGGCGTG		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.855G>A	9.37:g.140051376G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	149	85	0.57047	NM_001185091	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	CCDS7031.1																																																																																			G|0.800;A|0.200	0.200	strong		0.677	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		A	140051376	G	A	140051376	2	1	23	1	0	0	0	0	0	0	0	1	6778	1335	47	2		2	GRIN1	9	140051376	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	138	140051376	1162055	2431	18887										
EXD3	54932	hgsc.bcm.edu	37	chr9	140201433	140201433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggccgggctgggggctGggctcggctcgcaggggctg	22	11	0	0	rs118011827	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:140201433G>A	ENST00000340951.4	-	22	2795	c.2600C>T	c.(2599-2601)cCa>cTa	p.P867L	EXD3_ENST00000342129.4_Missense_Mutation_p.P505L	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTGGGGGCTGGGCTCGGCTC	0.652													G|||	39	0.00778754	0.0	0.0014	5008	,	,		13463	0.0		0.008	False		,,,				2504	0.0307				p.P867L		Atlas-SNP	.											.	EXD3	86	.	0			c.C2600T						PASS	.	G	LEU/PRO	4,3848		0,4,1922	18	22	21		2600	-6.2	0	9	dbSNP_132	21	42,8162		0,42,4060	yes	missense	EXD3	NM_017820.3	98	0,46,5982	AA,AG,GG		0.5119,0.1038,0.3816	benign	867/877	140201433	46,12010	1926	4102	6028	SO:0001583	missense	54932	exon22			GGGGCTGGGCTCG		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2600C>T	9.37:g.140201433G>A	ENSP00000340474:p.Pro867Leu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	47	30	0.638298	NM_017820	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	10.02	1.235692	0.22626	0.001038	0.005119	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66460	-0.21;0.63	3.79	-6.17	0.02091	.	.	.	.	.	T	0.32704	0.0838	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.12319	-1.0552	9	0.30078	T	0.28	.	2.0959	0.03667	0.122:0.226:0.3855:0.2666	.	505;867	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	L	505;867	ENSP00000343705:P505L;ENSP00000340474:P867L	ENSP00000340474:P867L	P	-	2	0	EXD3	139321254	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.324000	0.01116	-1.915000	0.01077	-1.086000	0.02197	CCA	G|0.996;A|0.004	0.004	strong		0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		A	140201433	G	A	140201433	3	1	23	1	0	0	0	0	1	0	0	0	5299	1348	47	2	34	2	EXD3	9	140201433	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	150057	140201433	1011998	2432	18888										
PNPLA7	375775	hgsc.bcm.edu	37	chr9	140357943	140357943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagagggggcatgtaaccGgacagggacatgctggcacg	17	9	0	1	rs78550888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr9:140357943G>A	ENST00000277531.4	-	28	3378	c.3192C>T	c.(3190-3192)tcC>tcT	p.S1064S	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Silent_p.S1089S|PNPLA7_ENST00000371457.1_Silent_p.S670S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1064	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCATGTAACCGGACAGGGACA	0.667													G|||	164	0.0327476	0.0023	0.0403	5008	,	,		15314	0.0		0.0696	False		,,,				2504	0.0644				p.S1089S		Atlas-SNP	.											.	PNPLA7	124	.	0			c.C3267T						PASS	.	G	,	71,4321		0,71,2125	73	50	58		3267,3192	-9.2	0.7	9	dbSNP_132	58	577,8009		26,525,3742	no	coding-synonymous,coding-synonymous	PNPLA7	NM_001098537.1,NM_152286.3	,	26,596,5867	AA,AG,GG		6.7202,1.6166,4.9931	,	1089/1343,1064/1318	140357943	648,12330	2196	4293	6489	SO:0001819	synonymous_variant	375775	exon29			GTAACCGGACAGG	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3192C>T	9.37:g.140357943G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_001098537	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	CCDS7045.1																																																																																			G|0.958;A|0.042	0.042	strong		0.667	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140357943	G	A	140357943	2	1	23	1	0	0	0	0	0	0	0	1	12170	1103	39	1		1	PNPLA7	9	140357943	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	156510	140357943	855488	2433	18889										
TUBB8	347688	hgsc.bcm.edu	37	chr10	93987	93987	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctgacaacgtccatcacTgactccatcagctccgcgcc					rs61839057	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:93987T>C	ENST00000309812.4	-	4	407	c.345A>G	c.(343-345)tcA>tcG	p.S115S	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Silent_p.S43S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	115					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CGTCCATCACTGACTCCATCA	0.617																																					p.S115S	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											.	TUBB8	62	.	0			c.A345G						PASS	.						57	50	53					10																	93987		2203	4300	6503	SO:0001819	synonymous_variant	347688	exon4			CATCACTGACTCC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.345A>G	10.37:g.93987T>C		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	221	42	0.190045	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			T|0.500;C|0.500	0.500	weak		0.617	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	93987	T	C	93987	2	2	23	1	0	0	0	0	0	0	0	1	16758	1567	55	3		3	TUBB8	10	93987	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10		93987	135440760	2434	18890	391	2								
TUBB8	347688	hgsc.bcm.edu	37	chr10	93994	93994	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacgtccatcactgactccAtcagctccgcgccttcggtg					rs61839058	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:93994A>G	ENST00000309812.4	-	4	400	c.338T>C	c.(337-339)aTg>aCg	p.M113T	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.M41T|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	113					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACTGACTCCATCAGCTCCGC	0.612																																					p.M113T	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											.	TUBB8	62	.	0			c.T338C						PASS	.						64	56	59					10																	93994		2203	4300	6503	SO:0001583	missense	347688	exon4			GACTCCATCAGCT	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.338T>C	10.37:g.93994A>G	ENSP00000311042:p.Met113Thr	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	223	42	0.188341	NM_177987	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	A	5.128	0.209250	0.09757	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.67523	-0.27	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.210109	0.29218	U	0.012784	T	0.49304	0.1549	.	.	.	0.26286	N	0.978194	B;B	0.32302	0.0;0.363	B;B	0.29440	0.0;0.102	T	0.45056	-0.9287	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	rs61839058	76;113	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	T	41;79;76;113	ENSP00000403895:M41T	ENSP00000272035:M79T	M	-	2	0	RP11-631M21.2	83994	1.000000	0.71417	0.302000	0.25058	0.306000	0.27790	6.213000	0.72194	0.103000	0.17682	0.102000	0.15555	ATG	A|1.000;|0.000	.	weak		0.612	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		G	93994	A	G	93994	3	3	23	1	0	0	0	0	1	0	0	0	16758	217	8	2	1000	2	TUBB8	10	93994	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7	93994	135440753	2435	18891	391	2								
TUBB8	347688	hgsc.bcm.edu	37	chr10	94025	94025	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttcggtgtagtgtccctTggcccagttgtttccggccc					rs143154682	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:94025T>C	ENST00000309812.4	-	4	369	c.307A>G	c.(307-309)Aag>Gag	p.K103E	TUBB8_ENST00000332708.5_Silent_p.P66P|TUBB8_ENST00000447903.2_Missense_Mutation_p.K31E|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	103					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TAGTGTCCCTTGGCCCAGTTG	0.577																																					p.K103E	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											.	TUBB8	62	.	0			c.A307G						PASS	.						69	57	61					10																	94025		2203	4300	6503	SO:0001583	missense	347688	exon4			GTCCCTTGGCCCA	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.307A>G	10.37:g.94025T>C	ENSP00000311042:p.Lys103Glu	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	237	56	0.236287	NM_177987	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332365	0.41297	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70399	-0.48	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.078738	0.47455	U	0.000224	D	0.83700	0.5311	H	0.96805	3.885	0.33195	D	0.551322	P;D	0.56968	0.646;0.978	P;P	0.59221	0.621;0.854	T	0.83158	-0.0100	9	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	66;103	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	E	31;69;66;103	ENSP00000403895:K31E	ENSP00000272035:K69E	K	-	1	0	RP11-631M21.2	84025	1.000000	0.71417	0.357000	0.25798	0.361000	0.29550	5.418000	0.66429	0.103000	0.17682	0.102000	0.15555	AAG	T|0.998;C|0.002	0.002	strong		0.577	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	94025	T	C	94025	3	2	23	1	0	0	0	0	1	0	0	0	16758	1821	63	2	1031	2	TUBB8	10	94025	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	31	94025	135440722	2436	18892	392	2								
TUBB8	347688	hgsc.bcm.edu	37	chr10	94026	94026	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttcggtgtagtgtcccttGgcccagttgtttccggcccc					rs10904032	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:94026G>A	ENST00000309812.4	-	4	368	c.306C>T	c.(304-306)gcC>gcT	p.A102A	TUBB8_ENST00000332708.5_Missense_Mutation_p.P66L|TUBB8_ENST00000447903.2_Silent_p.A30A|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	102					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGTGTCCCTTGGCCCAGTTGT	0.572																																					p.A102A	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											.	TUBB8	62	.	0			c.C306T						PASS	.	G		693,3713		18,657,1528	68	56	60		306		0.4	10	dbSNP_120	60	3519,5081		504,2511,1285	no	coding-synonymous	TUBB8	NM_177987.2		522,3168,2813	AA,AG,GG		40.9186,15.7286,32.3851		102/445	94026	4212,8794	2203	4300	6503	SO:0001819	synonymous_variant	347688	exon4			TCCCTTGGCCCAG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.306C>T	10.37:g.94026G>A		Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	236	35	0.148305	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	587	0.26877289377289376	72	0.14634146341463414	129	0.356353591160221	89	0.1555944055944056	297	0.391820580474934	G	10.07	1.248892	0.22880	0.157286	0.409186	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.40997	-0.9533	3	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs10904032;rs59810031	.	.	.	L	110;66	.	ENSP00000311042:P110L	P	-	2	0	RP11-631M21.2	84026	0.240000	0.23847	0.361000	0.25849	0.365000	0.29674	-3.811000	0.00360	0.119000	0.18210	0.121000	0.15741	CCA	G|0.731;A|0.269	0.269	strong		0.572	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	94026	G	A	94026	2	1	23	1	0	0	0	0	0	0	0	1	16758	1335	47	2		2	TUBB8	10	94026	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	94026	135440721	2437	18893	392	2								
LARP4B	23185	hgsc.bcm.edu	37	chr10	909711	909711	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctattttcaggcagagagtcAtattctgagggacccagagc	11	9	3	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:909711A>G	ENST00000316157.3	-	4	442	c.402T>C	c.(400-402)taT>taC	p.Y134Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	134					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GCAGAGAGTCATATTCTGAGG	0.473																																					p.Y134Y		Atlas-SNP	.											.	LARP4B	110	.	0			c.T402C						PASS	.						99	100	100					10																	909711		2203	4300	6503	SO:0001819	synonymous_variant	23185	exon5			AGAGTCATATTCT	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.402T>C	10.37:g.909711A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	70	10	0.142857	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	CCDS31131.1																																																																																			.	.	none		0.473	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		G	909711	A	G	909711	2	3	23	1	0	0	0	0	0	0	0	1	8631	224	8	2		2	LARP4B	10	909711	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	815685	909711	134625036	2438	18894										
PFKP	5214	hgsc.bcm.edu	37	chr10	3150973	3150973	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagggaccccttcggcattCgacaggatcttggtgagttg	15	9	1	1	rs1132173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:3150973C>T	ENST00000381125.4	+	9	1027	c.951C>T	c.(949-951)ttC>ttT	p.F317F	PFKP_ENST00000381075.2_Silent_p.F309F	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	317	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTTCGGCATTCGACAGGATCT	0.582													C|||	1855	0.370407	0.2791	0.4006	5008	,	,		18762	0.5099		0.332	False		,,,				2504	0.3681				p.F317F		Atlas-SNP	.											.	PFKP	182	.	0			c.C951T						PASS	.	C	,	1129,3277	404.0+/-332.9	145,839,1219	140	127	131		927,951	-7.6	0.5	10	dbSNP_86	131	2815,5785	444.8+/-360.8	435,1945,1920	no	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	580,2784,3139	TT,TC,CC		32.7326,25.6241,30.3245	,	309/777,317/785	3150973	3944,9062	2203	4300	6503	SO:0001819	synonymous_variant	5214	exon9			GGCATTCGACAGG	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.951C>T	10.37:g.3150973C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	165	37	0.224242	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	CCDS7059.1																																																																																			C|0.668;N|0.000	.	strong		0.582	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		T	3150973	C	T	3150973	2	4	23	1	0	0	0	0	0	0	0	1	11766	883	31	1		1	PFKP	10	3150973	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2241262	3150973	132383774	2439	18895										
PITRM1	10531	hgsc.bcm.edu	37	chr10	3191823	3191823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgactcgtacttggtgaggaCgctgcagaagaggggcacat	15	9	0	3	rs2388556	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:3191823C>T	ENST00000224949.4	-	16	1895	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V179I|PITRM1_ENST00000380989.2_Missense_Mutation_p.V621I|PITRM1_ENST00000464395.1_5'Flank|PITRM1_ENST00000451104.2_Missense_Mutation_p.V589I|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	621			V -> I (in dbSNP:rs2388556). {ECO:0000269|PubMed:10360838}.		positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTGGTGAGGACGCTGCAGAAG	0.517													C|||	579	0.115615	0.1346	0.0893	5008	,	,		15779	0.0536		0.1571	False		,,,				2504	0.1299				p.V621I		Atlas-SNP	.											.	PITRM1	109	.	0			c.G1861A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL	532,3574		45,442,1566	185	189	188		1861,1765,1861	4.5	1	10	dbSNP_100	188	1444,6974		128,1188,2893	yes	missense,missense,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	29,29,29	173,1630,4459	TT,TC,CC		17.1537,12.9566,15.7777	possibly-damaging,possibly-damaging,possibly-damaging	621/1039,589/940,621/1038	3191823	1976,10548	2053	4209	6262	SO:0001583	missense	10531	exon16			TGAGGACGCTGCA	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1861G>A	10.37:g.3191823C>T	ENSP00000224949:p.Val621Ile	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	63	49	0.777778	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	245	0.11217948717948718	58	0.11788617886178862	38	0.10497237569060773	30	0.05244755244755245	119	0.15699208443271767	c	23.1	4.376667	0.82682	0.129566	0.171537	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.22336	1.96;1.96;1.96;2.17	5.41	4.51	0.55191	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.057779	0.64402	D	0.000001	T	0.00109	0.0003	M	0.71036	2.16	0.09310	P	0.9999943181	P;P;D;D	0.56287	0.792;0.9;0.975;0.975	B;P;P;P	0.55222	0.177;0.459;0.771;0.771	T	0.04115	-1.0976	9	0.33940	T	0.23	.	13.8585	0.63545	0.0:0.9265:0.0:0.0735	rs2388556;rs59691732;rs2388556	614;589;621;621	E9PDX6;E7ES23;C9JSL2;Q5JRX3	.;.;.;PREP_HUMAN	I	621;614;621;179;589	ENSP00000224949:V621I;ENSP00000370377:V621I;ENSP00000370382:V179I;ENSP00000401201:V589I	ENSP00000224949:V621I	V	-	1	0	PITRM1	3181823	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	5.780000	0.68956	1.294000	0.44707	0.555000	0.69702	GTC	C|0.892;T|0.108	0.108	strong		0.517	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3191823	C	T	3191823	3	4	23	1	0	0	0	0	1	0	0	0	11953	536	19	1	1300	1	PITRM1	10	3191823	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40850	3191823	132342924	2440	18896										
AKR1C3	8644	hgsc.bcm.edu	37	chr10	5136651	5136651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggaatggattccaaacaCcagtgtgtaaagctaaatga	10	7	0	1	rs12529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:5136651C>G	ENST00000380554.3	+	1	667	c.15C>G	c.(13-15)caC>caG	p.H5Q	U8_ENST00000459536.1_RNA|AKR1C3_ENST00000605149.1_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000470862.2_Intron	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	5			H -> Q (in dbSNP:rs12529). {ECO:0000269|PubMed:10557352, ECO:0000269|PubMed:10622721, ECO:0000269|PubMed:7626489, ECO:0000269|PubMed:7650035, ECO:0000269|PubMed:7788527, ECO:0000269|PubMed:8274401, ECO:0000269|PubMed:9415401}.		arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATTCCAAACACCAGTGTGTAA	0.448													C|||	2903	0.579673	0.4569	0.5447	5008	,	,		17728	0.8611		0.4046	False		,,,				2504	0.6605				p.H5Q		Atlas-SNP	.											.	AKR1C3	21	.	0			c.C15G	GRCh37	CM045656	AKR1C3	M	rs12529	PASS	.	C	GLN/HIS	2046,2360	566.7+/-382.0	473,1100,630	216	187	197		15	-4.4	0	10	dbSNP_52	197	3546,5052	514.7+/-378.5	767,2012,1520	yes	missense	AKR1C3	NM_003739.4	24	1240,3112,2150	GG,GC,CC		41.2421,46.4367,43.0022	benign	5/324	5136651	5592,7412	2203	4299	6502	SO:0001583	missense	8644	exon1			CAAACACCAGTGT	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.15C>G	10.37:g.5136651C>G	ENSP00000369927:p.His5Gln	Somatic	167	1	0.00598802		WXS	Illumina HiSeq	Phase_I	121	119	0.983471	NM_001253909	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	CCDS7063.1	1250	0.5723443223443223	244	0.4959349593495935	198	0.5469613259668509	500	0.8741258741258742	308	0.40633245382585753	C	6.504	0.461158	0.12342	0.464367	0.412421	ENSG00000196139	ENST00000380554	T	0.47177	0.85	2.18	-4.36	0.03645	NADP-dependent oxidoreductase domain (1);	5.058380	0.00520	N	0.000183	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	4.000000000004E-6	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.31888	-0.9927	9	0.25106	T	0.35	.	6.2662	0.20928	0.0:0.5802:0.1624:0.2574	rs12529;rs1131108;rs3190662;rs52833180;rs60646959;rs12529	5;5	B4DKT3;P42330	.;AK1C3_HUMAN	Q	5	ENSP00000369927:H5Q	ENSP00000369927:H5Q	H	+	3	2	AKR1C3	5126651	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	-1.565000	0.02150	-1.160000	0.02804	0.313000	0.20887	CAC	C|0.511;G|0.489	0.489	strong		0.448	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		G	5136651	C	G	5136651	3	3	23	1	0	0	0	0	1	0	0	0	471	506	18	4	17	4	AKR1C3	10	5136651	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1944828	5136651	130398096	2441	18897										
UCN3	114131	hgsc.bcm.edu	37	chr10	5415954	5415954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggggccaggggtggagccAgaggcacccggtacagatac	17	11	0	2	rs10904481	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:5415954A>G	ENST00000380433.3	+	2	499	c.271A>G	c.(271-273)Aga>Gga	p.R91G		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	91			R -> G (in dbSNP:rs10904481). {ECO:0000269|PubMed:11329063, ECO:0000269|PubMed:11416224, ECO:0000269|PubMed:15489334}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						GGGTGGAGCCAGAGGCACCCG	0.622													.|||	2233	0.445887	0.3268	0.5476	5008	,	,		10804	0.5546		0.3121	False		,,,				2504	0.5603				p.R91G		Atlas-SNP	.											.	UCN3	13	.	0			c.A271G						PASS	.	G	GLY/ARG	1489,2913		260,969,972	54	55	54		271	2.5	0	10	dbSNP_120	54	2544,6056		381,1782,2137	yes	missense	UCN3	NM_053049.2	125	641,2751,3109	GG,GA,AA		29.5814,33.8255,31.0183	benign	91/162	5415954	4033,8969	2201	4300	6501	SO:0001583	missense	114131	exon2			GGAGCCAGAGGCA	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.271A>G	10.37:g.5415954A>G	ENSP00000369798:p.Arg91Gly	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	37	35	0.945946	NM_053049	Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	CCDS7065.1	876	0.4010989010989011	163	0.3313008130081301	178	0.49171270718232046	303	0.5297202797202797	232	0.30606860158311344	G	0.005	-2.183623	0.00305	0.338255	0.295814	ENSG00000178473	ENST00000380433	T	0.28069	1.63	5.48	2.52	0.30459	.	0.373259	0.19525	N	0.112193	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47686	-0.9098	9	0.02654	T	1	9.0E-4	6.6036	0.22714	0.2114:0.0:0.6631:0.1256	rs10904481;rs10904481	91	Q969E3	UCN3_HUMAN	G	91	ENSP00000369798:R91G	ENSP00000369798:R91G	R	+	1	2	UCN3	5405954	.	.	0.000000	0.03702	0.002000	0.02628	.	.	0.009000	0.14813	-0.320000	0.08662	AGA	A|0.639;G|0.361	0.361	strong		0.622	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		G	5415954	A	G	5415954	3	3	23	1	0	0	0	0	1	0	0	0	16926	180	7	3	273	3	UCN3	10	5415954	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	279303	5415954	130118793	2442	18898										
RBM17	84991	hgsc.bcm.edu	37	chr10	6139078	6139078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccagtgactcaaaaacagAaggctggtccaaaaacttca	8	10	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:6139078A>G	ENST00000446108.1	+	2	694	c.50A>G	c.(49-51)gAa>gGa	p.E17G	RBM17_ENST00000379888.4_Missense_Mutation_p.E17G	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	17					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCAAAAACAGAAGGCTGGTCC	0.468																																					p.E17G		Atlas-SNP	.											.	RBM17	45	.	0			c.A50G						PASS	.						106	106	106					10																	6139078		2203	4300	6503	SO:0001583	missense	84991	exon2			AAACAGAAGGCTG	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.50A>G	10.37:g.6139078A>G	ENSP00000388638:p.Glu17Gly	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	118	5	0.0423729	NM_001145547	Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859257	0.71834	.	.	ENSG00000134453	ENST00000379888;ENST00000432931;ENST00000446108;ENST00000418631	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.64	3.5	0.40072	.	0.049423	0.85682	N	0.000000	T	0.41534	0.1163	L	0.51422	1.61	0.80722	D	1	P	0.39216	0.664	B	0.32928	0.155	T	0.25502	-1.0130	10	0.40728	T	0.16	-25.6691	10.0431	0.42171	0.9194:0.0:0.0806:0.0	.	17	Q96I25	SPF45_HUMAN	G	17	ENSP00000369218:E17G;ENSP00000408214:E17G;ENSP00000388638:E17G;ENSP00000402303:E17G	ENSP00000369218:E17G	E	+	2	0	RBM17	6179084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.815000	0.91973	0.738000	0.32606	0.377000	0.23210	GAA	.	.	none		0.468	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		G	6139078	A	G	6139078	3	3	23	1	0	0	0	0	1	0	0	0	13119	246	9	2	52	2	RBM17	10	6139078	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	723124	6139078	129395669	2443	18899										
ITIH5	80760	hgsc.bcm.edu	37	chr10	7618501	7618501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtgggcctcctccaggccAtccatgcgtgggaccggccc	13	18	0	0	rs2275068	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:7618501A>G	ENST00000256861.6	-	10	1971	c.1893T>C	c.(1891-1893)gaT>gaC	p.D631D	ITIH5_ENST00000446830.2_Silent_p.D413D|ITIH5_ENST00000397145.2_Silent_p.D631D|ITIH5_ENST00000298441.6_Silent_p.D417D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.D631D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	631					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCTCCAGGCCATCCATGCGTG	0.692													G|||	2660	0.53115	0.3646	0.5461	5008	,	,		16089	0.7679		0.5219	False		,,,				2504	0.5112				p.D631D		Atlas-SNP	.											ITIH5_ENST00000397145,caecum,carcinoma,0,6	ITIH5	343	6	0			c.T1893C						scavenged	.	G	,,	1793,2613		363,1067,773	29	30	30		1893,1893,1251	-3	0	10	dbSNP_100	30	4619,3979		1269,2081,949	no	coding-synonymous,coding-synonymous,coding-synonymous	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	,,	1632,3148,1722	GG,GA,AA		46.2782,40.6945,49.3079	,,	631/703,631/943,417/729	7618501	6412,6592	2203	4299	6502	SO:0001819	synonymous_variant	80760	exon10			CAGGCCATCCATG			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1893T>C	10.37:g.7618501A>G		Somatic	90	1	0.0111111		WXS	Illumina HiSeq	Phase_I	51	50	0.980392	NM_001001851	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																				A|0.494;G|0.506	0.506	strong		0.692	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		G	7618501	A	G	7618501	2	3	23	1	0	0	0	0	0	0	0	1	7907	214	8	2		2	ITIH5	10	7618501	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1479423	7618501	127916246	2444	18900										
ITIH2	3698	hgsc.bcm.edu	37	chr10	7759736	7759736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatctgcaacctggacggctGgccaaacacttagaggtaag	11	10	1	1	rs370987991		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:7759736G>A	ENST00000358415.4	+	6	781	c.615G>A	c.(613-615)ctG>ctA	p.L205L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Silent_p.L194L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	205					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGGACGGCTGGCCAAACACT	0.507																																					p.L205L		Atlas-SNP	.											.	ITIH2	144	.	0			c.G615A						PASS	.	G		0,4406		0,0,2203	129	125	126		615	3.3	1	10		126	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ITIH2	NM_002216.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		205/947	7759736	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3698	exon6			ACGGCTGGCCAAA	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.615G>A	10.37:g.7759736G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	122	86	0.704918	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																			.	.	none		0.507	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7759736	G	A	7759736	2	1	23	1	0	0	0	0	0	0	0	1	7904	1335	47	2		2	ITIH2	10	7759736	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	141235	7759736	127775011	2445	18901										
ITIH2	3698	hgsc.bcm.edu	37	chr10	7774358	7774358	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacgacttgcaggattttCtatcgaaagacaagcatgca	10	8	1	1	rs7084817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:7774358C>G	ENST00000358415.4	+	14	1871	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L558V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	569			L -> V (in dbSNP:rs7084817).		hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAGGATTTTCTATCGAAAGA	0.478													C|||	100	0.0199681	0.0045	0.0144	5008	,	,		17716	0.003		0.0497	False		,,,				2504	0.0317				p.L569V		Atlas-SNP	.											.	ITIH2	144	.	0			c.C1705G						PASS	.	C	VAL/LEU	56,4350	56.2+/-92.4	0,56,2147	98	87	91		1705	3.5	0.9	10	dbSNP_116	91	427,8173	131.7+/-189.4	13,401,3886	yes	missense	ITIH2	NM_002216.2	32	13,457,6033	GG,GC,CC		4.9651,1.271,3.7137	probably-damaging	569/947	7774358	483,12523	2203	4300	6503	SO:0001583	missense	3698	exon14			GATTTTCTATCGA	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1705C>G	10.37:g.7774358C>G	ENSP00000351190:p.Leu569Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	78	26	0.333333	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	51	0.023351648351648352	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	42	0.055408970976253295	C	16.74	3.206606	0.58343	0.01271	0.049651	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.13778	2.56;2.56	5.32	3.45	0.39498	.	0.079977	0.52532	D	0.000069	T	0.01765	0.0056	M	0.67953	2.075	0.37530	D	0.917889	D	0.56968	0.978	P	0.47744	0.556	T	0.03231	-1.1058	10	0.42905	T	0.14	-13.7079	5.7545	0.18164	0.1441:0.633:0.0:0.2229	rs7084817	569	P19823	ITIH2_HUMAN	V	569;558	ENSP00000351190:L569V;ENSP00000368906:L558V	ENSP00000351190:L569V	L	+	1	2	ITIH2	7814364	0.794000	0.28838	0.903000	0.35520	0.956000	0.61745	1.323000	0.33701	1.252000	0.44001	0.643000	0.83706	CTA	C|0.965;G|0.035	0.035	strong		0.478	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		G	7774358	C	G	7774358	3	3	23	1	0	0	0	0	1	0	0	0	7904	912	32	4	1759	4	ITIH2	10	7774358	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14622	7774358	127760389	2446	18902										
NUDT5	11164	hgsc.bcm.edu	37	chr10	12209752	12209752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcatttgcatgtttcagTgctagagcgtaggaatagac	11	6	1	2	rs6686	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:12209752T>C	ENST00000491614.1	-	10	1004	c.609A>G	c.(607-609)gcA>gcG	p.A203A	NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378937.3_Silent_p.A216A|NUDT5_ENST00000537776.1_Silent_p.A203A|SEC61A2_ENST00000304267.8_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	203					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CATGTTTCAGTGCTAGAGCGT	0.448													C|||	2315	0.46226	0.4251	0.5245	5008	,	,		20633	0.5575		0.4821	False		,,,				2504	0.3497				p.A203A		Atlas-SNP	.											.	NUDT5	10	.	0			c.A609G						PASS	.	C	,	1985,2421	615.9+/-392.7	459,1067,677	163	148	153		,609	-10.3	0	10	dbSNP_52	153	4282,4318	578.9+/-390.8	1067,2148,1085	no	intron,coding-synonymous	NUDT5,SEC61A2	NM_001142627.1,NM_014142.2	,	1526,3215,1762	CC,CT,TT		49.7907,45.0522,48.1855	,	,203/220	12209752	6267,6739	2203	4300	6503	SO:0001819	synonymous_variant	11164	exon10			TTTCAGTGCTAGA	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.609A>G	10.37:g.12209752T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	60	10	0.166667	NM_014142	A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	CCDS7089.1																																																																																			T|0.523;C|0.477	0.477	strong		0.448	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			C	12209752	T	C	12209752	2	2	23	1	0	0	0	0	0	0	0	1	10742	1683	59	2		2	NUDT5	10	12209752	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4435394	12209752	123324995	2447	18903										
MCM10	55388	hgsc.bcm.edu	37	chr10	13239651	13239651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcaccaaattaagggcaaAaggccaggttcttacaaaaa	7	8	2	0	rs2274110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:13239651A>G	ENST00000484800.2	+	15	2109	c.2006A>G	c.(2005-2007)aAa>aGa	p.K669R	MCM10_ENST00000378714.3_Missense_Mutation_p.K668R|MCM10_ENST00000378694.1_Missense_Mutation_p.K668R			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	669			K -> R (in dbSNP:rs2274110). {ECO:0000269|PubMed:15489334}.		cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.K669R(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTAAGGGCAAAAGGCCAGGTT	0.418													A|||	547	0.109225	0.0129	0.134	5008	,	,		16861	0.1002		0.1948	False		,,,				2504	0.1431				p.K669R		Atlas-SNP	.											MCM10,NS,carcinoma,0,1	MCM10	76	1	1	Substitution - Missense(1)	stomach(1)	c.A2006G						PASS	.	A	ARG/LYS,ARG/LYS	171,4235	112.1+/-150.2	4,163,2036	85	81	83		2003,2006	5.3	1	10	dbSNP_100	83	1605,6995	297.1+/-303.3	163,1279,2858	yes	missense,missense	MCM10	NM_018518.4,NM_182751.2	26,26	167,1442,4894	GG,GA,AA		18.6628,3.8811,13.6552	probably-damaging,probably-damaging	668/875,669/876	13239651	1776,11230	2203	4300	6503	SO:0001583	missense	55388	exon15			GGGCAAAAGGCCA	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2006A>G	10.37:g.13239651A>G	ENSP00000418268:p.Lys669Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	49	36	0.734694	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	260	0.11904761904761904	8	0.016260162601626018	56	0.15469613259668508	52	0.09090909090909091	144	0.18997361477572558	A	26.1	4.704765	0.88924	0.038811	0.186628	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.18810	2.2;2.2;2.19	5.33	5.33	0.75918	Replication factor Mcm10 (1);	0.042443	0.85682	D	0.000000	T	0.00073	0.0002	L	0.58969	1.84	0.09310	P	0.9999999831145	D;P;D	0.57571	0.98;0.947;0.957	P;P;P	0.59012	0.824;0.766;0.85	T	0.01252	-1.1405	9	0.40728	T	0.16	-4.2679	15.6241	0.76840	1.0:0.0:0.0:0.0	rs2274110;rs52802669;rs59009311;rs2274110	668;668;669	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	R	668;669;669;668	ENSP00000367986:K668R;ENSP00000418268:K669R;ENSP00000367966:K668R	ENSP00000354945:K669R	K	+	2	0	MCM10	13279657	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.021000	0.76425	2.145000	0.66743	0.533000	0.62120	AAA	A|0.880;G|0.120	0.120	strong		0.418	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		G	13239651	A	G	13239651	3	3	23	1	0	0	0	0	1	0	0	0	9385	14	1	2	2060	2	MCM10	10	13239651	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1029899	13239651	122295096	2448	18904										
PHYH	5264	hgsc.bcm.edu	37	chr10	13330402	13330402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcttcagggagcccttgtgTgtgcctgggagcacaaccag	15	11	1	0	rs473407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:13330402T>C	ENST00000263038.4	-	6	694	c.636A>G	c.(634-636)acA>acG	p.T212T	PHYH_ENST00000396913.2_Silent_p.T112T|PHYH_ENST00000396920.3_Silent_p.T195T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	212					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AGCCCTTGTGTGTGCCTGGGA	0.587													T|||	1197	0.239018	0.4312	0.1686	5008	,	,		16570	0.124		0.2286	False		,,,				2504	0.1585				p.T212T		Atlas-SNP	.											.	PHYH	50	.	0			c.A636G						PASS	.	T	,	1709,2697	509.9+/-367.4	339,1031,833	57	55	56		336,636	-5.6	0.3	10	dbSNP_83	56	2192,6408	372.2+/-336.6	278,1636,2386	no	coding-synonymous,coding-synonymous	PHYH	NM_001037537.1,NM_006214.3	,	617,2667,3219	CC,CT,TT		25.4884,38.788,29.9938	,	112/239,212/339	13330402	3901,9105	2203	4300	6503	SO:0001819	synonymous_variant	5264	exon6			CTTGTGTGTGCCT		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.636A>G	10.37:g.13330402T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	61	12	0.196721	NM_006214	A8MTS8|B1ALH5	Silent	SNP	ENST00000263038.4	37	CCDS7097.1																																																																																			T|0.728;C|0.272	0.272	strong		0.587	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			C	13330402	T	C	13330402	2	2	23	1	0	0	0	0	0	0	0	1	11864	1683	59	2		2	PHYH	10	13330402	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	90751	13330402	122204345	2449	18905										
BEND7	222389	hgsc.bcm.edu	37	chr10	13534851	13534851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcatataagggaaattggAggttgttgtctgttttgagt	14	2	1	1	rs2251555	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:13534851A>G	ENST00000396900.2	-	5	596	c.597T>C	c.(595-597)ccT>ccC	p.P199P	BEND7_ENST00000341083.3_Silent_p.P147P|BEND7_ENST00000396898.2_Silent_p.P212P|BEND7_ENST00000378605.3_Silent_p.P160P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	199						extracellular vesicular exosome (GO:0070062)		p.P147P(1)|p.P160P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GGGAAATTGGAGGTTGTTGTC	0.413													G|||	2407	0.480631	0.4887	0.5533	5008	,	,		19988	0.3403		0.5378	False		,,,				2504	0.5041				p.P160P		Atlas-SNP	.											BEND7_ENST00000378605,colon,carcinoma,0,4	BEND7	85	4	2	Substitution - coding silent(2)	stomach(2)	c.T480C						PASS	.	G	,	2261,2143	543.9+/-376.4	580,1101,521	71	73	73		480,441	4.5	1	10	dbSNP_100	73	4934,3666	513.7+/-378.2	1412,2110,778	no	coding-synonymous,coding-synonymous	BEND7	NM_001100912.1,NM_152751.2	,	1992,3211,1299	GG,GA,AA		42.6279,48.6603,44.6709	,	160/375,147/469	13534851	7195,5809	2202	4300	6502	SO:0001819	synonymous_variant	222389	exon4			AATTGGAGGTTGT	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.597T>C	10.37:g.13534851A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_001100912	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37																																																																																				A|0.476;G|0.524	0.524	strong		0.413	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		G	13534851	A	G	13534851	2	3	23	1	0	0	0	0	0	0	0	1	1403	291	11	3		3	BEND7	10	13534851	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	204449	13534851	121999896	2450	18906										
FRMD4A	55691	hgsc.bcm.edu	37	chr10	13735947	13735947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgatgatcttccccttgctAcccatgttggccagcttcga	8	14	1	2	rs2296596	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:13735947A>G	ENST00000357447.2	-	15	1436	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Silent_p.G341G|FRMD4A_ENST00000378503.1_Silent_p.G356G|FRMD4A_ENST00000342409.2_Silent_p.G372G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	356					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCCCCTTGCTACCCATGTTGG	0.622													G|||	652	0.130192	0.1989	0.0735	5008	,	,		19362	0.1081		0.1103	False		,,,				2504	0.1207				p.G356G		Atlas-SNP	.											.	FRMD4A	108	.	0			c.T1068C						PASS	.	G		796,3610	751.1+/-412.2	59,678,1466	111	91	98		1068	-0.4	1	10	dbSNP_100	98	907,7693	778.0+/-407.7	34,839,3427	no	coding-synonymous	FRMD4A	NM_018027.3		93,1517,4893	GG,GA,AA		10.5465,18.0663,13.094		356/1040	13735947	1703,11303	2203	4300	6503	SO:0001819	synonymous_variant	55691	exon15			CTTGCTACCCATG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1068T>C	10.37:g.13735947A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_018027	A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																			A|0.869;G|0.131	0.131	strong		0.622	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		G	13735947	A	G	13735947	2	3	23	1	0	0	0	0	0	0	0	1	6051	378	14	2		2	FRMD4A	10	13735947	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	201096	13735947	121798800	2451	18907										
C10orf111	221060	hgsc.bcm.edu	37	chr10	15138696	15138696	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctgaactcaaggcaactCttactgcctttctcttttcg	6	12	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:15138696C>T	ENST00000378207.3	-	2	401	c.128G>A	c.(127-129)aGa>aAa	p.R43K	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	43						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						CAAGGCAACTCTTACTGCCTT	0.498																																					p.R43K		Atlas-SNP	.											C10orf111,NS,malignant_melanoma,0,1	C10orf111	11	1	0			c.G128A						scavenged	.						164	152	156					10																	15138696		2203	4300	6503	SO:0001583	missense	221060	exon2			GCAACTCTTACTG	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.128G>A	10.37:g.15138696C>T	ENSP00000367449:p.Arg43Lys	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	246	3	0.0121951	NM_153244	B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283991	0.23392	.	.	ENSG00000176236	ENST00000378207	T	0.53857	0.6	3.27	2.27	0.28462	.	.	.	.	.	T	0.28499	0.0705	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18650	-1.0330	9	0.87932	D	0	.	3.4725	0.07573	0.0:0.7033:0.0:0.2967	.	43	Q8N326	CJ111_HUMAN	K	43	ENSP00000367449:R43K	ENSP00000367449:R43K	R	-	2	0	C10orf111	15178702	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.190000	0.17057	0.805000	0.34159	0.561000	0.74099	AGA	.	.	none		0.498	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		T	15138696	C	T	15138696	3	4	23	1	0	0	0	0	1	0	0	0	1583	913	32	2	343	2	C10orf111	10	15138696	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1402749	15138696	120396051	2452	18908										
FAM171A1	221061	hgsc.bcm.edu	37	chr10	15256368	15256368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggtgtgcaggtccccttCgccgcccggagacatcattt	14	13	1	1	rs143772901	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:15256368C>T	ENST00000378116.4	-	8	1225	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	407						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGGTCCCCTTCGCCGCCCGGA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		16253	0.0		0.0	False		,,,				2504	0.002				p.E407K		Atlas-SNP	.											.	FAM171A1	252	.	0			c.G1219A						PASS	.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	58	62	61		1219	5.1	0.1	10	dbSNP_134	61	5,8595	4.3+/-15.6	0,5,4295	yes	missense	FAM171A1	NM_001010924.1	56	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	407/891	15256368	6,13000	2203	4300	6503	SO:0001583	missense	221061	exon8			CCCCTTCGCCGCC	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1219G>A	10.37:g.15256368C>T	ENSP00000367356:p.Glu407Lys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	58	21	0.362069	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213121	0.58452	2.27E-4	5.81E-4	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.35421	1.31	5.14	5.14	0.70334	.	0.101232	0.64402	D	0.000003	T	0.51092	0.1654	M	0.72894	2.215	0.80722	D	1	D	0.54397	0.966	P	0.51101	0.659	T	0.51965	-0.8638	10	0.45353	T	0.12	-22.4632	18.8133	0.92068	0.0:1.0:0.0:0.0	.	407	Q5VUB5	F1711_HUMAN	K	407;408	ENSP00000367356:E407K	ENSP00000367356:E407K	E	-	1	0	FAM171A1	15296374	1.000000	0.71417	0.106000	0.21319	0.055000	0.15305	7.103000	0.77014	2.667000	0.90743	0.563000	0.77884	GAA	C|1.000;T|0.000	0.000	weak		0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		T	15256368	C	T	15256368	3	4	23	1	0	0	0	0	1	0	0	0	5490	893	31	1	1457	1	FAM171A1	10	15256368	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	117672	15256368	120278379	2453	18909										
CUBN	8029	hgsc.bcm.edu	37	chr10	17113563	17113563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacacgttaggaaaaaaaggCgagcgaatgaccccttctcc	9	11	1	1	rs1801225	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:17113563C>T	ENST00000377833.4	-	19	2552	c.2487G>A	c.(2485-2487)tcG>tcA	p.S829S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	829	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAAAAAAGGCGAGCGAATGA	0.408													c|||	1783	0.35603	0.0552	0.4827	5008	,	,		13947	0.5407		0.3966	False		,,,				2504	0.4407				p.S829S		Atlas-SNP	.											.	CUBN	515	.	0			c.G2487A						PASS	.	T		477,3929	223.9+/-240.3	24,429,1750	70	72	72		2487	-10.9	0	10	dbSNP_89	72	3889,4711	543.6+/-384.4	871,2147,1282	no	coding-synonymous	CUBN	NM_001081.3		895,2576,3032	TT,TC,CC		45.2209,10.8261,33.5691		829/3624	17113563	4366,8640	2203	4300	6503	SO:0001819	synonymous_variant	8029	exon19			AAAAGGCGAGCGA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2487G>A	10.37:g.17113563C>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	22	4	0.181818	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			C|0.657;T|0.343	0.343	strong		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17113563	C	T	17113563	2	4	23	1	0	0	0	0	0	0	0	1	4051	755	27	1		1	CUBN	10	17113563	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1857195	17113563	118421184	2454	18910										
TRDMT1	1787	hgsc.bcm.edu	37	chr10	17243610	17243610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgcccacgccgctgtatagCtccagcacccgcaggggctc	11	19	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:17243610C>T	ENST00000377799.3	-	1	71	c.24G>A	c.(22-24)gaG>gaA	p.E8E	TRDMT1_ENST00000457442.2_5'UTR|TRDMT1_ENST00000351358.4_Silent_p.E8E|TRDMT1_ENST00000412821.3_Silent_p.E8E|TRDMT1_ENST00000377766.5_Silent_p.E8E|TRDMT1_ENST00000358282.7_Silent_p.E8E|TRDMT1_ENST00000488990.1_Silent_p.E8E	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	8	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CGCTGTATAGCTCCAGCACCC	0.706																																					p.E8E		Atlas-SNP	.											.	TRDMT1	46	.	0			c.G24A						PASS	.						11	12	12					10																	17243610		1939	3647	5586	SO:0001819	synonymous_variant	1787	exon1			GTATAGCTCCAGC	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.24G>A	10.37:g.17243610C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	18	12	0.666667	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Silent	SNP	ENST00000377799.3	37	CCDS7114.1																																																																																			.	.	none		0.706	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		T	17243610	C	T	17243610	2	4	23	1	0	0	0	0	0	0	0	1	16464	796	28	2		2	TRDMT1	10	17243610	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	130047	17243610	118291137	2455	18911										
SLC39A12	221074	hgsc.bcm.edu	37	chr10	18254595	18254595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atattttcagttccttgaatCgtacgaataccctccgccta	5	12	1	1	rs62619938	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:18254595C>T	ENST00000377369.2	+	4	1000	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.R109C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R243C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R243C	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	243					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCCTTGAATCGTACGAATAC	0.418													C|||	130	0.0259585	0.0068	0.0403	5008	,	,		18927	0.0		0.0875	False		,,,				2504	0.0051				p.R243C		Atlas-SNP	.											SLC39A12,NS,carcinoma,-1,1	SLC39A12	181	1	0			c.C727T						PASS	.	C	CYS/ARG,CYS/ARG	50,4356	50.2+/-85.5	2,46,2155	53	52	52		727,727	3.5	0.6	10	dbSNP_129	52	582,8018	155.5+/-209.5	20,542,3738	yes	missense,missense	SLC39A12	NM_001145195.1,NM_152725.3	180,180	22,588,5893	TT,TC,CC		6.7674,1.1348,4.8593	possibly-damaging,possibly-damaging	243/692,243/655	18254595	632,12374	2203	4300	6503	SO:0001583	missense	221074	exon4			TTGAATCGTACGA		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.727C>T	10.37:g.18254595C>T	ENSP00000366586:p.Arg243Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	61	14	0.229508	NM_152725	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	83	0.038003663003663	5	0.01016260162601626	18	0.049723756906077346	0	0.0	60	0.079155672823219	C	6.711	0.499822	0.12762	0.011348	0.067674	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.62364	0.15;0.03;0.15;0.04	5.81	3.49	0.39957	.	0.362650	0.35838	N	0.002960	T	0.05502	0.0145	L	0.53249	1.67	0.42390	D	0.992526	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.14578	0.011;0.003;0.002	T	0.09530	-1.0670	10	0.56958	D	0.05	-1.9829	8.7303	0.34494	0.7981:0.1345:0.0674:0.0	rs62619938	243;243;243	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	C	243;243;243;109;163	ENSP00000366586:R243C;ENSP00000366591:R243C;ENSP00000366588:R243C;ENSP00000440445:R109C	ENSP00000366586:R243C	R	+	1	0	SLC39A12	18294601	1.000000	0.71417	0.560000	0.28344	0.007000	0.05969	2.918000	0.48829	0.476000	0.27440	-0.262000	0.10625	CGT	C|0.956;T|0.044	0.044	strong		0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		T	18254595	C	T	18254595	3	4	23	1	0	0	0	0	1	0	0	0	14615	884	31	1	737	1	SLC39A12	10	18254595	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1010985	18254595	117280152	2456	18912										
SLC39A12	221074	hgsc.bcm.edu	37	chr10	18254606	18254606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttgaatcgtacgaatacCctccgcctatcaggtaagga	8	12	1	1	rs691513	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:18254606C>A	ENST00000377369.2	+	4	1011	c.738C>A	c.(736-738)acC>acA	p.T246T	SLC39A12_ENST00000539911.1_Silent_p.T112T|SLC39A12_ENST00000377374.4_Silent_p.T246T|SLC39A12_ENST00000377371.3_Silent_p.T246T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	246					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GTACGAATACCCTCCGCCTAT	0.418													C|||	1660	0.33147	0.2443	0.4006	5008	,	,		18941	0.3889		0.3608	False		,,,				2504	0.3108				p.T246T		Atlas-SNP	.											.	SLC39A12	181	.	0			c.C738A						PASS	.	C	,	1136,3270	404.2+/-333.0	147,842,1214	48	46	47		738,738	0.9	0.5	10	dbSNP_83	47	2935,5665	453.3+/-363.2	502,1931,1867	no	coding-synonymous,coding-synonymous	SLC39A12	NM_001145195.1,NM_152725.3	,	649,2773,3081	AA,AC,CC		34.1279,25.783,31.3009	,	246/692,246/655	18254606	4071,8935	2203	4300	6503	SO:0001819	synonymous_variant	221074	exon4			GAATACCCTCCGC		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.738C>A	10.37:g.18254606C>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	54	39	0.722222	NM_152725	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	CCDS44362.1																																																																																			C|0.672;A|0.328	0.328	strong		0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18254606	C	A	18254606	2	1	23	1	0	0	0	0	0	0	0	1	14615	610	22	4		4	SLC39A12	10	18254606	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11	18254606	117280141	2457	18913										
NEBL	10529	hgsc.bcm.edu	37	chr10	21108377	21108377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagctgctcctggtttcgCctcactctctctatctccgg	7	17	5	0	rs1006363	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:21108377C>T	ENST00000377122.4	-	20	2427	c.2031G>A	c.(2029-2031)agG>agA	p.R677R	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	677					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTGGTTTCGCCTCACTCTCT	0.428													C|||	920	0.183706	0.0204	0.219	5008	,	,		17787	0.252		0.2992	False		,,,				2504	0.1902				p.R677R		Atlas-SNP	.											.	NEBL	199	.	0			c.G2031A						PASS	.	C	,,	336,4070	177.3+/-206.3	15,306,1882	180	166	171		,2031,	3	0	10	dbSNP_86	171	2539,6061	415.0+/-351.6	376,1787,2137	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	391,2093,4019	TT,TC,CC		29.5233,7.626,22.1052	,,	,677/1015,	21108377	2875,10131	2203	4300	6503	SO:0001819	synonymous_variant	10529	exon20			GTTTCGCCTCACT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2031G>A	10.37:g.21108377C>T		Somatic	197	1	0.00507614		WXS	Illumina HiSeq	Phase_I	154	115	0.746753	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																			C|0.789;T|0.211	0.211	strong		0.428	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21108377	C	T	21108377	2	4	23	1	0	0	0	0	0	0	0	1	10303	738	26	2		2	NEBL	10	21108377	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2853771	21108377	114426370	2458	18914										
DNAJC1	64215	hgsc.bcm.edu	37	chr10	22048330	22048330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcctctggctccggcttCgctgtagcctccagcagcct	9	17	2	0	rs9045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:22048330C>T	ENST00000376980.3	-	11	1655	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	455					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)				GCTCCGGCTTCGCTGTAGCCT	0.627													C|||	629	0.125599	0.0061	0.1427	5008	,	,		16995	0.2242		0.169	False		,,,				2504	0.1288				p.A455A		Atlas-SNP	.											DNAJC1,colon,carcinoma,0,2	DNAJC1	42	2	0			c.G1365A						PASS	.	C		168,4238	111.2+/-149.4	4,160,2039	60	61	61		1365	-10	0	10	dbSNP_52	61	1451,7149	277.5+/-292.9	126,1199,2975	no	coding-synonymous	DNAJC1	NM_022365.3		130,1359,5014	TT,TC,CC		16.8721,3.813,12.4481		455/555	22048330	1619,11387	2203	4300	6503	SO:0001819	synonymous_variant	64215	exon11			CGGCTTCGCTGTA	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.1365G>A	10.37:g.22048330C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	103	83	0.805825	NM_022365	B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	CCDS7136.1																																																																																			C|0.861;T|0.139	0.139	strong		0.627	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		T	22048330	C	T	22048330	2	4	23	1	0	0	0	0	0	0	0	1	4628	871	31	1		1	DNAJC1	10	22048330	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	939953	22048330	113486417	2459	18915										
MSRB2	22921	hgsc.bcm.edu	37	chr10	23408278	23408278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgggtggccttcgttttcCgaggctcatggtacgtctgg	14	10	2	0	rs7427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:23408278C>T	ENST00000376510.3	+	4	445	c.342C>T	c.(340-342)tcC>tcT	p.S114S	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	114					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CTTCGTTTTCCGAGGCTCATG	0.502													C|||	1130	0.225639	0.2315	0.1571	5008	,	,		20241	0.123		0.327	False		,,,				2504	0.2679				p.S114S	Esophageal Squamous(89;1240 1363 4973 30188 42299)	Atlas-SNP	.											.	MSRB2	21	.	0			c.C342T						PASS	.	C		906,3100		97,712,1194	106	107	107		342	-10.5	0.6	10	dbSNP_52	107	2897,5443		477,1943,1750	no	coding-synonymous	MSRB2	NM_012228.3		574,2655,2944	TT,TC,CC		34.7362,22.6161,30.8035		114/183	23408278	3803,8543	2003	4170	6173	SO:0001819	synonymous_variant	22921	exon4			GTTTTCCGAGGCT	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.342C>T	10.37:g.23408278C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	68	50	0.735294	NM_012228	Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	ENST00000376510.3	37	CCDS41495.1																																																																																			C|0.746;T|0.254	0.254	strong		0.502	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		T	23408278	C	T	23408278	2	4	23	1	0	0	0	0	0	0	0	1	9888	639	23	1		1	MSRB2	10	23408278	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1359948	23408278	112126469	2460	18916										
C10orf67	256815	hgsc.bcm.edu	37	chr10	23633566	23633566	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctacgcgcgcagcagacCcgcagctcggtggccttggc	13	16	0	1	rs2036917	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:23633566C>A	ENST00000323327.4	-	1	208	c.141G>T	c.(139-141)cgG>cgT	p.R47R	RP11-371A19.2_ENST00000443224.1_RNA	NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	47										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						CGCAGCAGACCCGCAGCTCGG	0.612													C|||	3379	0.67472	0.7277	0.6599	5008	,	,		14886	0.8562		0.4771	False		,,,				2504	0.6299				p.R47R		Atlas-SNP	.											C10orf67,NS,carcinoma,0,1	C10orf67	21	1	0			c.G141T						PASS	.	C		2741,1125		992,757,184	22	24	23		141	-2.6	0	10	dbSNP_94	23	4020,4234		998,2024,1105	no	coding-synonymous	C10orf67	NM_153714.2		1990,2781,1289	AA,AC,CC		48.7037,29.0998,44.2162		47/186	23633566	6761,5359	1933	4127	6060	SO:0001819	synonymous_variant	256815	exon1			GCAGACCCGCAGC	BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.141G>T	10.37:g.23633566C>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	92	56	0.608696	NM_153714	A8MUP9|Q5SWD4	Silent	SNP	ENST00000323327.4	37	CCDS44365.1																																																																																			C|0.343;A|0.657	0.657	strong		0.612	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1	NM_153714		A	23633566	C	A	23633566	2	1	23	1	0	0	0	0	0	0	0	1	1612	610	22	4		4	C10orf67	10	23633566	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	225288	23633566	111901181	2461	18917										
KIAA1217	56243	hgsc.bcm.edu	37	chr10	24813454	24813454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcatgatggttcgccacGcgcagagctcccctgtggtc	13	15	0	2	rs10828663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:24813454G>A	ENST00000376454.3	+	13	2689	c.2659G>A	c.(2659-2661)Gcg>Acg	p.A887T	KIAA1217_ENST00000376462.1_Missense_Mutation_p.A807T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A852T|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A570T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A570T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A852T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A570T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A570T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	887			A -> T (in dbSNP:rs10828663). {ECO:0000269|PubMed:15489334}.		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						GGTTCGCCACGCGCAGAGCTC	0.672													G|||	939	0.1875	0.2133	0.2147	5008	,	,		18777	0.1081		0.2893	False		,,,				2504	0.1104				p.A887T		Atlas-SNP	.											KIAA1217,colon,carcinoma,0,2	KIAA1217	235	2	0			c.G2659A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	1043,3363	382.1+/-324.3	133,777,1293	68	56	60		2419,2554,2659	4.6	0.2	10	dbSNP_120	60	2478,6122	407.7+/-349.2	342,1794,2164	yes	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	475,2571,3457	AA,AG,GG		28.814,23.6723,27.0721	possibly-damaging,possibly-damaging,possibly-damaging	807/1265,852/1310,887/1944	24813454	3521,9485	2203	4300	6503	SO:0001583	missense	56243	exon13			CGCCACGCGCAGA	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.2659G>A	10.37:g.24813454G>A	ENSP00000365637:p.Ala887Thr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	46	33	0.717391	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	470	0.21520146520146521	111	0.22560975609756098	84	0.23204419889502761	61	0.10664335664335664	214	0.28232189973614774	G	12.63	1.996660	0.35226	0.236723	0.28814	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.51	4.61	0.57282	.	0.267267	0.35739	N	0.003003	T	0.00012	0.0000	L	0.53249	1.67	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.34103	0.086;0.106;0.086;0.103;0.437;0.166;0.143;0.035	B;B;B;B;B;B;B;B	0.21360	0.012;0.011;0.011;0.025;0.034;0.024;0.022;0.016	T	0.25433	-1.0132	9	0.13853	T	0.58	.	14.3498	0.66694	0.0717:0.0:0.9283:0.0	rs10828663;rs17588312;rs60956410;rs10828663	852;852;570;570;570;570;887;887	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	807;852;852;570;887;852;702;570;570;570;570;570	ENSP00000365645:A807T;ENSP00000365639:A852T;ENSP00000392625:A852T;ENSP00000365637:A887T;ENSP00000365635:A852T;ENSP00000404798:A702T;ENSP00000302343:A570T;ENSP00000379722:A570T;ENSP00000365634:A570T;ENSP00000379723:A570T	ENSP00000302343:A570T	A	+	1	0	KIAA1217	24853460	0.984000	0.35163	0.212000	0.23672	0.004000	0.04260	4.371000	0.59523	1.336000	0.45506	-0.258000	0.10820	GCG	G|0.760;A|0.240	0.240	strong		0.672	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24813454	G	A	24813454	3	1	23	1	0	0	0	0	1	0	0	0	8216	1087	38	1	2709	1	KIAA1217	10	24813454	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1179888	24813454	110721293	2462	18918										
GPR158	57512	hgsc.bcm.edu	37	chr10	25888180	25888180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggcctaggaaagaagagAtctgggatagttttaaagtg	14	4	1	2	rs10828833	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:25888180A>G	ENST00000376351.3	+	11	3984	c.3625A>G	c.(3625-3627)Atc>Gtc	p.I1209V	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1209			I -> V (in dbSNP:rs10828833).		protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGAGATCTGGGATAG	0.438													G|||	3323	0.663538	0.9652	0.5144	5008	,	,		18834	0.7579		0.3956	False		,,,				2504	0.5399				p.I1209V		Atlas-SNP	.											GPR158,right_upper_lobe,carcinoma,-2,1	GPR158	255	1	0			c.A3625G						PASS	.	G	VAL/ILE	3819,587		1656,507,40	43	51	48		3625	3.1	0.1	10	dbSNP_120	48	3647,4951		764,2119,1416	yes	missense	GPR158	NM_020752.2	29	2420,2626,1456	GG,GA,AA		42.4168,13.3227,42.5869	benign	1209/1216	25888180	7466,5538	2203	4299	6502	SO:0001583	missense	57512	exon11			GAAGAGATCTGGG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3625A>G	10.37:g.25888180A>G	ENSP00000365529:p.Ile1209Val	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	36	29	0.805556	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	1407	0.6442307692307693	467	0.9491869918699187	199	0.5497237569060773	432	0.7552447552447552	309	0.4076517150395778	G	0.009	-1.856044	0.00558	0.866773	0.424168	ENSG00000151025	ENST00000376351	T	0.59083	0.29	5.92	3.1	0.35709	.	1.738420	0.03741	N	0.255005	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.02654	T	1	.	10.728	0.46079	0.2544:0.0:0.7456:0.0	rs10828833;rs17639060;rs52832343;rs58605179;rs10828833	1209	Q5T848	GP158_HUMAN	V	1209	ENSP00000365529:I1209V	ENSP00000365529:I1209V	I	+	1	0	GPR158	25928186	0.991000	0.36638	0.145000	0.22337	0.573000	0.36030	2.214000	0.42853	0.136000	0.18733	-0.119000	0.15052	ATC	A|0.388;G|0.612	0.612	strong		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25888180	A	G	25888180	3	3	23	1	0	0	0	0	1	0	0	0	6663	333	12	2	3667	2	GPR158	10	25888180	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1074726	25888180	109646567	2463	18919										
MYO3A	53904	hgsc.bcm.edu	37	chr10	26357747	26357747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattccagagatcagatctaCgtctatgtgggagacatact	9	8	3	3	rs35379457|rs386742102	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:26357747C>T	ENST00000265944.5	+	12	1270	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	MYO3A_ENST00000543632.1_Silent_p.Y368Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	368	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGATCTACGTCTATGTGG	0.368													T|||	1986	0.396565	0.3124	0.3516	5008	,	,		17370	0.2956		0.5616	False		,,,				2504	0.4765				p.Y368Y		Atlas-SNP	.											MYO3A,brain,glioma,0,3	MYO3A	371	3	0			c.C1104T						PASS	.	T		1479,2927		312,855,1036	140	123	129		1104	-4	0.5	10	dbSNP_126	129	4424,4176		1328,1768,1204	no	coding-synonymous	MYO3A	NM_017433.4		1640,2623,2240	TT,TC,CC		48.5581,33.5679,45.3867		368/1617	26357747	5903,7103	2203	4300	6503	SO:0001819	synonymous_variant	53904	exon12			GATCTACGTCTAT	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1104C>T	10.37:g.26357747C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	76	20	0.263158	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																			C|0.552;T|0.448	0.448	strong		0.368	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26357747	C	T	26357747	2	4	23	1	0	0	0	0	0	0	0	1	10076	547	19	1		1	MYO3A	10	26357747	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	469567	26357747	109177000	2464	18920										
MYO3A	53904	hgsc.bcm.edu	37	chr10	26462790	26462790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aataatgtgtatgaggaagaGgttaagcaagaattctacct	10	4	1	3	rs3740232	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:26462790G>A	ENST00000265944.5	+	30	3763	c.3597G>A	c.(3595-3597)gaG>gaA	p.E1199E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1199					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1199E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGAGGAAGAGGTTAAGCAAG	0.418													G|||	1648	0.329073	0.2262	0.317	5008	,	,		19882	0.3532		0.3429	False		,,,				2504	0.4376				p.E1199E		Atlas-SNP	.											MYO3A,colon,carcinoma,0,2	MYO3A	371	2	1	Substitution - coding silent(1)	stomach(1)	c.G3597A						PASS	.	G		1105,3301	396.7+/-330.2	139,827,1237	87	86	86		3597	0	0	10	dbSNP_107	86	2884,5716	452.0+/-362.8	486,1912,1902	no	coding-synonymous	MYO3A	NM_017433.4		625,2739,3139	AA,AG,GG		33.5349,25.0794,30.6705		1199/1617	26462790	3989,9017	2203	4300	6503	SO:0001819	synonymous_variant	53904	exon30			GGAAGAGGTTAAG	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3597G>A	10.37:g.26462790G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	78	22	0.282051	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																			G|0.681;A|0.319	0.319	strong		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26462790	G	A	26462790	2	1	23	1	0	0	0	0	0	0	0	1	10076	991	35	2		2	MYO3A	10	26462790	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	105043	26462790	109071957	2465	18921										
GAD2	2572	hgsc.bcm.edu	37	chr10	26575277	26575277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcttctctcttgtagggaTtgatgcagaattgcaaccaa	8	9	3	2	rs531559223		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:26575277T>C	ENST00000376261.3	+	13	1743	c.1240T>C	c.(1240-1242)Ttg>Ctg	p.L414L	GAD2_ENST00000259271.3_Silent_p.L414L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	414					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTGTAGGGATTGATGCAGAA	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		18191	0.0		0.0	False		,,,				2504	0.001				p.L414L		Atlas-SNP	.											.	GAD2	116	.	0			c.T1240C						PASS	.						102	91	95					10																	26575277		2203	4300	6503	SO:0001819	synonymous_variant	2572	exon13			TAGGGATTGATGC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1240T>C	10.37:g.26575277T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	56	15	0.267857	NM_000818	Q9UD87	Silent	SNP	ENST00000376261.3	37	CCDS7149.1																																																																																			.	.	none		0.363	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		C	26575277	T	C	26575277	2	2	23	1	0	0	0	0	0	0	0	1	6180	1490	52	2		2	GAD2	10	26575277	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	112487	26575277	108959470	2466	18922										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27702169	27702169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgagccactgcttgctctgCacgtcgtactcagggtcctc	11	14	2	1	rs6482625	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:27702169C>T	ENST00000438700.3	-	1	1128	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	337					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTTGCTCTGCACGTCGTACT	0.522													C|||	993	0.198283	0.3805	0.2839	5008	,	,		19255	0.0129		0.2137	False		,,,				2504	0.0665				p.V337V		Atlas-SNP	.											.	PTCHD3	140	.	0			c.G1011A						PASS	.	C		1589,2817	495.1+/-363.2	282,1025,896	132	135	134		1011	-0.2	0	10	dbSNP_116	134	1947,6653	341.6+/-324.1	234,1479,2587	no	coding-synonymous	PTCHD3	NM_001034842.3		516,2504,3483	TT,TC,CC		22.6395,36.0645,27.1875		337/768	27702169	3536,9470	2203	4300	6503	SO:0001819	synonymous_variant	374308	exon1			GCTCTGCACGTCG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1011G>A	10.37:g.27702169C>T		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	81	18	0.222222	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																			C|0.765;T|0.235	0.235	strong		0.522	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702169	C	T	27702169	2	4	23	1	0	0	0	0	0	0	0	1	12734	697	25	2		2	PTCHD3	10	27702169	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1126892	27702169	107832578	2467	18923										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27702688	27702688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taatgctcctctaggtcttcCtcttcgtccttgggtaggta	9	11	3	0	rs7087552	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:27702688C>T	ENST00000438700.3	-	1	609	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	164					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTAGGTCTTCCTCTTCGTCCT	0.652													C|||	993	0.198283	0.3805	0.2839	5008	,	,		14646	0.0129		0.2137	False		,,,				2504	0.0665				p.E164E		Atlas-SNP	.											.	PTCHD3	140	.	0			c.G492A						PASS	.	C		1586,2820	485.3+/-360.3	282,1022,899	90	100	96		492	-5	0	10	dbSNP_116	96	1936,6664	332.3+/-320.0	234,1468,2598	no	coding-synonymous	PTCHD3	NM_001034842.3		516,2490,3497	TT,TC,CC		22.5116,35.9964,27.0798		164/768	27702688	3522,9484	2203	4300	6503	SO:0001819	synonymous_variant	374308	exon1			GTCTTCCTCTTCG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.492G>A	10.37:g.27702688C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	78	15	0.192308	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																			C|0.764;T|0.236	0.236	strong		0.652	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702688	C	T	27702688	2	4	23	1	0	0	0	0	0	0	0	1	12734	680	24	2		2	PTCHD3	10	27702688	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	519	27702688	107832059	2468	18924										
PTCHD3	374308	hgsc.bcm.edu	37	chr10	27702725	27702725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtacaggaagccggtgcccAgcgcggctgtcagcatcaag	15	12	2	0	rs6482626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:27702725A>G	ENST00000438700.3	-	1	572	c.455T>C	c.(454-456)cTg>cCg	p.L152P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	152			L -> P (in dbSNP:rs6482626). {ECO:0000269|PubMed:15489334}.		spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCCGGTGCCCAGCGCGGCTGT	0.672													A|||	994	0.198482	0.3805	0.2853	5008	,	,		12858	0.0129		0.2137	False		,,,				2504	0.0665				p.L152P		Atlas-SNP	.											.	PTCHD3	140	.	0			c.T455C						PASS	.	A	PRO/LEU	1561,2845	463.0+/-353.4	279,1003,921	62	71	68		455	3.6	0	10	dbSNP_116	68	1921,6679	319.3+/-314.1	234,1453,2613	yes	missense	PTCHD3	NM_001034842.3	98	513,2456,3534	GG,GA,AA		22.3372,35.429,26.7723	probably-damaging	152/768	27702725	3482,9524	2203	4300	6503	SO:0001583	missense	374308	exon1			GTGCCCAGCGCGG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.455T>C	10.37:g.27702725A>G	ENSP00000417658:p.Leu152Pro	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_001034842	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	437	0.2000915750915751	176	0.35772357723577236	90	0.24861878453038674	10	0.017482517482517484	161	0.21240105540897097	A	16.00	2.997444	0.54147	0.35429	0.223372	ENSG00000182077	ENST00000438700	D	0.91351	-2.83	3.62	3.62	0.41486	.	0.165305	0.41938	N	0.000787	T	0.00012	0.0000	M	0.68952	2.095	0.20403	P	0.9999007308	D	0.76494	0.999	D	0.70935	0.971	T	0.00000	-1.3717	9	0.87932	D	0	-16.4668	10.9518	0.47334	1.0:0.0:0.0:0.0	rs6482626;rs17388746;rs57918946;rs6482626	152	Q3KNS1	PTHD3_HUMAN	P	152	ENSP00000417658:L152P	ENSP00000417658:L152P	L	-	2	0	PTCHD3	27742731	0.990000	0.36364	0.011000	0.14972	0.015000	0.08874	4.227000	0.58612	1.528000	0.49103	0.454000	0.30748	CTG	A|0.769;G|0.231	0.231	strong		0.672	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		G	27702725	A	G	27702725	3	3	23	1	0	0	0	0	1	0	0	0	12734	188	7	3	1864	3	PTCHD3	10	27702725	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	37	27702725	107832022	2469	18925										
MKX	283078	hgsc.bcm.edu	37	chr10	27964470	27964470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttcacccttattggatccGttttccagagtgtctgtaaa	7	10	2	1	rs2253230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:27964470G>A	ENST00000375790.5	-	6	1284	c.852C>T	c.(850-852)aaC>aaT	p.N284N	MKX_ENST00000419761.1_Silent_p.N284N			Q8IYA7	MKX_HUMAN	mohawk homeobox	284					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TATTGGATCCGTTTTCCAGAG	0.378													G|||	1428	0.285144	0.295	0.353	5008	,	,		19342	0.121		0.338	False		,,,				2504	0.3384				p.N284N		Atlas-SNP	.											.	MKX	43	.	0			c.C852T						PASS	.	G	,	1379,3027	457.5+/-351.6	235,909,1059	79	67	71		852,852	-2.1	1	10	dbSNP_100	71	2853,5747	447.7+/-361.6	469,1915,1916	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	704,2824,2975	AA,AG,GG		33.1744,31.2982,32.5388	,	284/353,284/353	27964470	4232,8774	2203	4300	6503	SO:0001819	synonymous_variant	283078	exon6			GGATCCGTTTTCC	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.852C>T	10.37:g.27964470G>A		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	123	122	0.99187	NM_001242702	B3KWM5	Silent	SNP	ENST00000375790.5	37	CCDS7156.1																																																																																			G|0.693;A|0.307	0.307	strong		0.378	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		A	27964470	G	A	27964470	2	1	23	1	0	0	0	0	0	0	0	1	9610	1136	40	1		1	MKX	10	27964470	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	261745	27964470	107570277	2470	18926										
ARMC4	55130	hgsc.bcm.edu	37	chr10	28257852	28257852	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgctgaccagaaacatacCgaagtaattgtgctcttccg	8	11	1	2	rs199740026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:28257852C>T	ENST00000305242.5	-	9	1330	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Splice_Site_p.R270Q|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000537576.1_Splice_Site_p.R105Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	413					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGAAACATACCGAAGTAATTG	0.458													C|||	557	0.111222	0.1884	0.0836	5008	,	,		18036	0.003		0.1213	False		,,,				2504	0.1278				p.R413Q		Atlas-SNP	.											ARMC4,rectum,NS,-1,1	ARMC4	177	1	0			c.G1238A						scavenged	.						4	3	3					10																	28257852		1459	3081	4540	SO:0001630	splice_region_variant	55130	exon9			ACATACCGAAGTA	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1238+1G>A	10.37:g.28257852C>T		Somatic	1045	1	0.000956938		WXS	Illumina HiSeq	Phase_I	697	233	0.33429	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	261	0.11950549450549451	136	0.2764227642276423	36	0.09944751381215469	3	0.005244755244755245	86	0.11345646437994723	C	7.770	0.707261	0.15239	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	3.89	2.05	0.26809	.	1.074070	0.07060	N	0.833582	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	P	0.35628	0.513	B	0.21360	0.034	T	0.26052	-1.0114	8	.	.	.	-2.5181	6.1142	0.20117	0.0:0.7713:0.0:0.2287	.	413	Q5T2S8	ARMC4_HUMAN	Q	105;413;105;307;270	ENSP00000443208:R105Q;ENSP00000306410:R413Q;ENSP00000398155:R307Q;ENSP00000239715:R270Q	.	R	-	2	0	ARMC4	28297858	0.423000	0.25482	0.063000	0.19743	0.008000	0.06430	0.554000	0.23407	0.620000	0.30215	0.557000	0.71058	CGG	C|0.500;T|0.500	0.500	weak		0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	Missense_Mutation	T	28257852	C	T	28257852	5	4	23	1	0	0	0	0	0	0	1	0	953	666	23	1	1944	1	ARMC4	10	28257852	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	293382	28257852	107276895	2471	18927										
SVIL	6840	hgsc.bcm.edu	37	chr10	29747417	29747417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagaggatcgaccccctcCgggagtggcctggccaggag	15	13	1	1	rs1887465	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:29747417C>T	ENST00000355867.4	-	37	7256	c.6504G>A	c.(6502-6504)ccG>ccA	p.P2168P	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.P1082P|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1742P|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2168P|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2168	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGACCCCCTCCGGGAGTGGCC	0.552													C|||	1800	0.359425	0.2852	0.3746	5008	,	,		15050	0.5565		0.2465	False		,,,				2504	0.362				p.P2168P		Atlas-SNP	.											.	SVIL	226	.	0			c.G6504A						PASS	.	C	,	1301,3105	436.1+/-344.5	193,915,1095	42	46	44		5226,6504	-8.8	0.1	10	dbSNP_92	44	1844,6756	329.8+/-318.9	197,1450,2653	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	390,2365,3748	TT,TC,CC		21.4419,29.5279,24.1811	,	1742/1789,2168/2215	29747417	3145,9861	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon37			CCCCTCCGGGAGT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6504G>A	10.37:g.29747417C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	56	8	0.142857	NM_021738	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			C|0.733;T|0.267	0.267	strong		0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29747417	C	T	29747417	2	4	23	1	0	0	0	0	0	0	0	1	15418	639	23	1		1	SVIL	10	29747417	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1489565	29747417	105787330	2472	18928										
SVIL	6840	hgsc.bcm.edu	37	chr10	29779936	29779936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccgcttgtgctcggccacGgaagacgtcaatctgcggat	13	13	2	1	rs45519332	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:29779936G>A	ENST00000355867.4	-	22	4784	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	SVIL_ENST00000535393.1_Silent_p.S258S|SVIL_ENST00000375400.3_Silent_p.S918S|SVIL_ENST00000538146.1_Silent_p.S136S|SVIL_ENST00000375398.2_Silent_p.S1344S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1344					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCTCGGCCACGGAAGACGTCA	0.587													A|||	409	0.0816693	0.0976	0.1527	5008	,	,		19089	0.0347		0.0825	False		,,,				2504	0.0573				p.S1344S		Atlas-SNP	.											.	SVIL	226	.	0			c.C4032T						PASS	.	A	,	415,3991	779.2+/-414.3	10,395,1798	27	27	27		2754,4032	-8.2	0	10	dbSNP_127	27	629,7971	783.4+/-407.6	3,623,3674	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	13,1018,5472	AA,AG,GG		7.314,9.419,8.0271	,	918/1789,1344/2215	29779936	1044,11962	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon22			GGCCACGGAAGAC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4032C>T	10.37:g.29779936G>A		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	63	28	0.444444	NM_021738	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			G|0.928;A|0.072	0.072	strong		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29779936	G	A	29779936	2	1	23	1	0	0	0	0	0	0	0	1	15418	1103	39	1		1	SVIL	10	29779936	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32519	29779936	105754811	2473	18929										
KIAA1462	57608	hgsc.bcm.edu	37	chr10	30316072	30316072	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcactggtgattttcggaCtttcctggggctccctaggt	12	10	0	1	rs3739998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:30316072C>G	ENST00000375377.1	-	3	3106	c.3005G>C	c.(3004-3006)aGt>aCt	p.S1002T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1002			S -> T (in dbSNP:rs3739998). {ECO:0000269|PubMed:17974005}.		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GATTTTCGGACTTTCCTGGGG	0.557													C|||	1261	0.251797	0.0598	0.4524	5008	,	,		18976	0.1825		0.4215	False		,,,				2504	0.2658				p.S1002T		Atlas-SNP	.											.	KIAA1462	162	.	0			c.G3005C						PASS	.	C	THR/SER	454,3352		31,392,1480	115	108	110	http://www.ncbi.nlm.nih.gov/pubmed?term	3005	-0.7	0	10	dbSNP_107	110	3503,4747		740,2023,1362	yes	missense	KIAA1462	NM_020848.2	58	771,2415,2842	GG,GC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	42.4606,11.9285,32.8218	possibly-damaging	1002/1360	30316072	3957,8099	1903	4125	6028	SO:0001583	missense	57608	exon3			TTCGGACTTTCCT	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3005G>C	10.37:g.30316072C>G	ENSP00000364526:p.Ser1002Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	634	0.2902930402930403	43	0.08739837398373984	153	0.42265193370165743	115	0.20104895104895104	323	0.4261213720316623	C	8.798	0.932209	0.18131	0.119285	0.424606	ENSG00000165757	ENST00000375377	T	0.12147	2.71	4.91	-0.722	0.11184	.	1.502430	0.03364	N	0.198056	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	B	0.21606	0.058	B	0.19391	0.025	T	0.47182	-0.9137	9	0.12103	T	0.63	0.5855	0.969	0.01412	0.2826:0.3586:0.1395:0.2193	rs3739998;rs17229209;rs3739998	1002	Q9P266	K1462_HUMAN	T	1002	ENSP00000364526:S1002T	ENSP00000364526:S1002T	S	-	2	0	KIAA1462	30356078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.151000	0.16283	0.190000	0.20209	-0.253000	0.11424	AGT	C|0.706;G|0.294	0.294	strong		0.557	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		G	30316072	C	G	30316072	3	3	23	1	0	0	0	0	1	0	0	0	8234	565	20	4	1082	4	KIAA1462	10	30316072	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	536136	30316072	105218675	2474	18930										
ARHGAP12	94134	hgsc.bcm.edu	37	chr10	32128611	32128611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaagactcattttcaggaAagcagggttttgaggcagtt	13	5	2	3	rs2808096	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:32128611A>G	ENST00000344936.2	-	8	1559	c.1325T>C	c.(1324-1326)tTt>tCt	p.F442S	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.F395S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.F442S|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.F395S|ARHGAP12_ENST00000375250.5_Intron	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	442			F -> S (in dbSNP:rs2808096).		morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATTTTCAGGAAAGCAGGGTTT	0.343													A|||	1161	0.231829	0.0545	0.2954	5008	,	,		13632	0.4127		0.2048	False		,,,				2504	0.2679				p.F442S		Atlas-SNP	.											.	ARHGAP12	79	.	0			c.T1325C						PASS	.	A	SER/PHE	371,4035	186.4+/-213.3	16,339,1848	109	110	110		1325	3.2	1	10	dbSNP_100	110	1824,6776	326.4+/-317.4	190,1444,2666	yes	missense	ARHGAP12	NM_018287.5	155	206,1783,4514	GG,GA,AA		21.2093,8.4203,16.8768	benign	442/847	32128611	2195,10811	2203	4300	6503	SO:0001583	missense	94134	exon8			TCAGGAAAGCAGG	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1325T>C	10.37:g.32128611A>G	ENSP00000345808:p.Phe442Ser	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	51	51	1	NM_001270695	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	505	0.23122710622710624	28	0.056910569105691054	89	0.24585635359116023	219	0.38286713286713286	169	0.22295514511873352	A	11.71	1.718440	0.30503	0.084203	0.212093	ENSG00000165322	ENST00000311380;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.51	3.15	0.36227	.	0.228703	0.38548	N	0.001653	T	0.00012	0.0000	N	0.08118	0	0.36264	P	0.145235	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.48091	-0.9065	9	0.20046	T	0.44	.	6.4215	0.21746	0.7804:0.0:0.0739:0.1457	rs2808096;rs17582209;rs52793660;rs2808096	442;442;395	Q504X1;Q8IWW6;Q8IWW6-3	.;RHG12_HUMAN;.	S	395;442;442;395	ENSP00000310984:F395S;ENSP00000345808:F442S;ENSP00000379448:F442S;ENSP00000364394:F395S	ENSP00000310984:F395S	F	-	2	0	ARHGAP12	32168617	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.817000	0.39002	0.443000	0.26582	0.533000	0.62120	TTT	G|0.199;N|0.000	0.199	strong		0.343	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			G	32128611	A	G	32128611	3	3	23	1	0	0	0	0	1	0	0	0	865	14	1	2	1267	2	ARHGAP12	10	32128611	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1812539	32128611	103406136	2475	18931										
ITGB1	3688	hgsc.bcm.edu	37	chr10	33214802	33214802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaatgaatgcgcttactccAcaaactgcaacttgcatgat	7	10	0	2	rs2298141	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:33214802A>G	ENST00000396033.2	-	6	918	c.783T>C	c.(781-783)tgT>tgC	p.C261C	ITGB1_ENST00000302278.3_Silent_p.C261C|ITGB1_ENST00000374956.4_Silent_p.C261C|ITGB1_ENST00000423113.1_Silent_p.C261C|ITGB1_ENST00000484088.1_5'Flank	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	261	VWFA.			CGSLI -> VWMLL (in Ref. 6; AAI13902). {ECO:0000305}.	axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CGCTTACTCCACAAACTGCAA	0.348													A|||	784	0.15655	0.0401	0.1859	5008	,	,		18818	0.245		0.172	False		,,,				2504	0.1861				p.C261C		Atlas-SNP	.											.	ITGB1	156	.	0			c.T783C						PASS	.	A	,,	250,4156	143.8+/-178.8	9,232,1962	96	89	92		783,783,783	4.6	1	10	dbSNP_100	92	1510,7090	285.7+/-297.3	139,1232,2929	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB1	NM_002211.3,NM_033668.2,NM_133376.2	,,	148,1464,4891	GG,GA,AA		17.5581,5.6741,13.5322	,,	261/799,261/802,261/799	33214802	1760,11246	2203	4300	6503	SO:0001819	synonymous_variant	3688	exon6			TACTCCACAAACT	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.783T>C	10.37:g.33214802A>G		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	54	42	0.777778	NM_002211	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																			A|0.852;G|0.148	0.148	strong		0.348	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		G	33214802	A	G	33214802	2	3	23	1	0	0	0	0	0	0	0	1	7890	157	6	2		2	ITGB1	10	33214802	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1086191	33214802	102319945	2476	18932										
NRP1	8829	hgsc.bcm.edu	37	chr10	33475282	33475282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaccctgagtgtgccgaCgtgggacccagacatgtgat	13	10	0	4	rs2228638	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:33475282C>T	ENST00000265371.4	-	15	2722	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	NRP1_ENST00000374867.2_Missense_Mutation_p.V733I|NRP1_ENST00000374875.1_Missense_Mutation_p.V545I|NRP1_ENST00000395995.1_Missense_Mutation_p.V733I			O14786	NRP1_HUMAN	neuropilin 1	733	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.		V -> I (in dbSNP:rs2228638).		angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTGTGCCGACGTGGGACCCA	0.557													C|||	548	0.109425	0.0083	0.245	5008	,	,		19265	0.128		0.1083	False		,,,				2504	0.1319				p.V733I	Melanoma(104;886 1489 44640 45944 51153)	Atlas-SNP	.											NRP1,NS,carcinoma,+2,1	NRP1	126	1	0			c.G2197A						scavenged	.	C	ILE/VAL	110,4296	86.3+/-125.0	1,108,2094	132	92	105		2197	5.9	1	10	dbSNP_98	105	918,7682	204.1+/-246.9	36,846,3418	yes	missense	NRP1	NM_003873.5	29	37,954,5512	TT,TC,CC		10.6744,2.4966,7.904	benign	733/924	33475282	1028,11978	2203	4300	6503	SO:0001583	missense	8829	exon14			TGCCGACGTGGGA	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2197G>A	10.37:g.33475282C>T	ENSP00000265371:p.Val733Ile	Somatic	165	2	0.0121212		WXS	Illumina HiSeq	Phase_I	114	86	0.754386	NM_003873	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	210	0.09615384615384616	5	0.01016260162601626	74	0.20441988950276244	54	0.0944055944055944	77	0.10158311345646438	C	7.352	0.623167	0.14193	0.024966	0.106744	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.049762	0.85682	D	0.000000	T	0.00012	0.0000	N	0.04636	-0.2	0.09310	P	1.0	B;P;B;B;B	0.38863	0.364;0.65;0.364;0.364;0.209	B;B;B;B;B	0.29440	0.102;0.068;0.102;0.102;0.018	T	0.73372	-0.4003	9	0.33940	T	0.23	-25.0873	20.2985	0.98592	0.0:1.0:0.0:0.0	rs2228638;rs59659881;rs2228638	727;733;733;545;733	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	I	733;545;733;733	ENSP00000265371:V733I;ENSP00000364009:V545I;ENSP00000364001:V733I;ENSP00000379317:V733I	ENSP00000265371:V733I	V	-	1	0	NRP1	33515288	1.000000	0.71417	0.989000	0.46669	0.828000	0.46876	4.322000	0.59215	2.793000	0.96121	0.655000	0.94253	GTC	C|0.910;T|0.090	0.090	strong		0.557	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			T	33475282	C	T	33475282	3	4	23	1	0	0	0	0	1	0	0	0	10660	536	19	1	590	1	NRP1	10	33475282	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	260480	33475282	102059465	2477	18933										
PARD3	56288	hgsc.bcm.edu	37	chr10	34620220	34620220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggtctgcagactctccaaCgagcttgacttcttcagacc	9	14	4	3	rs3781128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:34620220C>T	ENST00000374789.3	-	19	2992	c.2667G>A	c.(2665-2667)tcG>tcA	p.S889S	PARD3_ENST00000374790.3_Silent_p.S829S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374776.1_Silent_p.S843S|PARD3_ENST00000374788.3_Silent_p.S886S|PARD3_ENST00000374794.3_Silent_p.S814S|PARD3_ENST00000350537.4_Silent_p.S843S|PARD3_ENST00000346874.4_Silent_p.S889S|PARD3_ENST00000545260.1_Silent_p.S799S|PARD3_ENST00000545693.1_Silent_p.S873S|PARD3_ENST00000544292.1_Silent_p.S602S|PARD3_ENST00000340077.5_Silent_p.S886S|PARD3_ENST00000374773.1_Silent_p.S856S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	889	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GACTCTCCAACGAGCTTGACT	0.493													T|||	2753	0.54972	0.7254	0.5173	5008	,	,		15913	0.3919		0.4761	False		,,,				2504	0.5736				p.S889S		Atlas-SNP	.											.	PARD3	131	.	0			c.G2667A						PASS	.	T	,,,,,,,,,,	3105,1301	440.8+/-346.1	1111,883,209	72	67	69		2658,2619,2667,2529,2529,2397,2442,2658,2565,2529,2667	-10.9	0	10	dbSNP_107	69	4031,4569	596.6+/-393.6	926,2179,1195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_001184792.1,NM_001184793.1,NM_001184794.1,NM_019619.3	,,,,,,,,,,	2037,3062,1404	TT,TC,CC		46.8721,29.5279,45.133	,,,,,,,,,,	886/1354,873/1341,889/1320,843/1311,843/1274,799/1267,814/1245,886/1032,855/1001,843/989,889/1357	34620220	7136,5870	2203	4300	6503	SO:0001819	synonymous_variant	56288	exon19			CTCCAACGAGCTT	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2667G>A	10.37:g.34620220C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	49	35	0.714286	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																			C|0.459;T|0.541	0.541	strong		0.493	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		T	34620220	C	T	34620220	2	4	23	1	0	0	0	0	0	0	0	1	11443	523	19	1		1	PARD3	10	34620220	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1144938	34620220	100914527	2478	18934										
PARD3	56288	hgsc.bcm.edu	37	chr10	34630575	34630575	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtcggctgaatcactgatTgcagccttggcccaagtacc	10	13	1	2	rs141191270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:34630575T>A	ENST00000374789.3	-	16	2722	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	PARD3_ENST00000374790.3_Silent_p.A739A|PARD3_ENST00000374776.1_Silent_p.A783A|PARD3_ENST00000374788.3_Silent_p.A796A|PARD3_ENST00000374794.3_Silent_p.A739A|PARD3_ENST00000350537.4_Silent_p.A783A|PARD3_ENST00000346874.4_Silent_p.A799A|PARD3_ENST00000545260.1_Silent_p.A739A|PARD3_ENST00000545693.1_Silent_p.A783A|PARD3_ENST00000544292.1_Silent_p.A513A|PARD3_ENST00000340077.5_Silent_p.A796A|PARD3_ENST00000374773.1_Silent_p.A796A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	799	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATCACTGATTGCAGCCTTGG	0.478																																					p.A799A		Atlas-SNP	.											.	PARD3	131	.	0			c.A2397T						PASS	.	T	,,,,,,,,,,	3,4403	6.2+/-15.9	0,3,2200	128	117	120		2388,2349,2397,2349,2349,2217,2217,2388,2388,2349,2397	-11.3	0	10	dbSNP_134	120	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_001184792.1,NM_001184793.1,NM_001184794.1,NM_019619.3	,,,,,,,,,,	0,5,6498	AA,AT,TT		0.0233,0.0681,0.0384	,,,,,,,,,,	796/1354,783/1341,799/1320,783/1311,783/1274,739/1267,739/1245,796/1032,796/1001,783/989,799/1357	34630575	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	56288	exon16			ACTGATTGCAGCC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2397A>T	10.37:g.34630575T>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	69	0.784091	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																			T|0.999;A|0.001	0.001	strong		0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		A	34630575	T	A	34630575	2	1	23	1	0	0	0	0	0	0	0	1	11443	1799	63	5		5	PARD3	10	34630575	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10355	34630575	100904172	2479	18935										
FZD8	8325	hgsc.bcm.edu	37	chr10	35929131	35929131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcacccaccagatggagctGgccatgccgaagaagtagac	11	12	1	3	rs74989785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:35929131G>A	ENST00000374694.1	-	1	1231	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	409					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGATGGAGCTGGCCATGCCGA	0.637													G|||	370	0.0738818	0.0832	0.0706	5008	,	,		9437	0.1468		0.007	False		,,,				2504	0.0573				p.A409A		Atlas-SNP	.											.	FZD8	41	.	0			c.C1227T						PASS	.	G		295,4111	159.2+/-191.8	18,259,1926	58	57	58		1227	2.9	1	10	dbSNP_131	58	55,8545	35.9+/-90.5	1,53,4246	no	coding-synonymous	FZD8	NM_031866.2		19,312,6172	AA,AG,GG		0.6395,6.6954,2.6911		409/695	35929131	350,12656	2203	4300	6503	SO:0001819	synonymous_variant	8325	exon1			GGAGCTGGCCATG	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1227C>T	10.37:g.35929131G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	39	30	0.769231	NM_031866		Silent	SNP	ENST00000374694.1	37	CCDS7192.1																																																																																			G|0.962;A|0.038	0.038	strong		0.637	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		A	35929131	G	A	35929131	2	1	23	1	0	0	0	0	0	0	0	1	6136	1335	47	2		2	FZD8	10	35929131	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1298556	35929131	99605616	2480	18936										
ANKRD30A	91074	hgsc.bcm.edu	37	chr10	37505179	37505179	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaagggaacttcaaaaagaTcactgtgaacaacgtacagg	10	8	2	2	rs57914746	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:37505179T>C	ENST00000602533.1	+	32	2871	c.2772T>C	c.(2770-2772)gaT>gaC	p.D924D	ANKRD30A_ENST00000361713.1_Silent_p.D924D|ANKRD30A_ENST00000374660.1_Silent_p.D1043D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	980					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCAAAAAGATCACTGTGAAC	0.328													T|||	795	0.158746	0.2837	0.1095	5008	,	,		15900	0.1161		0.171	False		,,,				2504	0.0562				p.D924D		Atlas-SNP	.											.	ANKRD30A	448	.	0			c.T2772C						PASS	.	T		1060,2562		174,712,925	71	67	68		2772	-5.3	0	10	dbSNP_129	68	1418,6720		131,1156,2782	no	coding-synonymous	ANKRD30A	NM_052997.2		305,1868,3707	CC,CT,TT		17.4244,29.2656,21.0714		924/1342	37505179	2478,9282	1811	4069	5880	SO:0001819	synonymous_variant	91074	exon32			AAAAGATCACTGT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2772T>C	10.37:g.37505179T>C		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	162	33	0.203704	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																				T|0.822;C|0.178	0.178	strong		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		C	37505179	T	C	37505179	2	2	23	1	0	0	0	0	0	0	0	1	658	1432	50	2		2	ANKRD30A	10	37505179	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1576048	37505179	98029568	2481	18937										
ZNF33A	7581	hgsc.bcm.edu	37	chr10	38344895	38344895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctatgaatgtaatgaatgtGgaaaagccttctaccagaag	9	7	1	3	rs12256916	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:38344895G>A	ENST00000458705.2	+	5	1998	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	ZNF33A_ENST00000374618.3_Missense_Mutation_p.G615R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G614R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G621R			Q06730	ZN33A_HUMAN	zinc finger protein 33A	614			G -> R (in dbSNP:rs12256916).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAATGAATGTGGAAAAGCCTT	0.368													G|||	140	0.0279553	0.0915	0.013	5008	,	,		20194	0.0		0.0099	False		,,,				2504	0.0				p.G615R		Atlas-SNP	.											.	ZNF33A	103	.	0			c.G1843A						PASS	.	G	ARG/GLY,ARG/GLY	363,4043	184.7+/-212.0	19,325,1859	75	74	74		1843,1840	1.7	1	10	dbSNP_120	74	54,8546	34.3+/-88.2	0,54,4246	no	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	125,125	19,379,6105	AA,AG,GG		0.6279,8.2388,3.2062	probably-damaging,probably-damaging	615/812,614/811	38344895	417,12589	2203	4300	6503	SO:0001583	missense	7581	exon5			GAATGTGGAAAAG	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1840G>A	10.37:g.38344895G>A	ENSP00000387713:p.Gly614Arg	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	48	10	0.208333	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	50	0.022893772893772892	35	0.07113821138211382	7	0.019337016574585635	0	0.0	8	0.010554089709762533	G	14.71	2.615327	0.46631	0.082388	0.006279	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.01484	4.84;4.84;4.84;4.84	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34386	N	0.004010	T	0.00468	0.0015	M	0.85373	2.75	0.31075	N	0.712553	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77004	0.981;0.989;0.859	T	0.00756	-1.1579	10	0.56958	D	0.05	.	8.8982	0.35479	0.0:0.0:1.0:0.0	rs12256916;rs52814973;rs12256916	621;614;615	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	615;621;614;614	ENSP00000363747:G615R;ENSP00000402467:G621R;ENSP00000387713:G614R;ENSP00000304268:G614R	ENSP00000304268:G614R	G	+	1	0	ZNF33A	38384901	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	4.320000	0.59203	0.902000	0.36520	0.313000	0.20887	GGA	G|0.970;A|0.030	0.030	strong		0.368	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		A	38344895	G	A	38344895	3	1	23	1	0	0	0	0	1	0	0	0	17851	1349	47	2	1857	2	ZNF33A	10	38344895	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	839716	38344895	97189852	2482	18938										
ZNF33A	7581	hgsc.bcm.edu	37	chr10	38345409	38345409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggatattagaaatttccAgccacaagtcagcctccata	6	10	1	1	rs71491230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:38345409A>G	ENST00000458705.2	+	5	2512	c.2354A>G	c.(2353-2355)cAg>cGg	p.Q785R	ZNF33A_ENST00000374618.3_Missense_Mutation_p.Q786R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q785R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q792R			Q06730	ZN33A_HUMAN	zinc finger protein 33A	785					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q785R(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGAAATTTCCAGCCACAAGTC	0.383													A|||	3	0.000599042	0.0	0.0	5008	,	,		18653	0.0		0.003	False		,,,				2504	0.0				p.Q786R		Atlas-SNP	.											ZNF33A,NS,carcinoma,0,1	ZNF33A	103	1	1	Substitution - Missense(1)	lung(1)	c.A2357G						PASS	.	A	ARG/GLN,ARG/GLN	2,4404	4.2+/-10.8	0,2,2201	61	61	61		2357,2354	0.6	0	10	dbSNP_130	61	25,8575	17.3+/-56.4	0,25,4275	yes	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	43,43	0,27,6476	GG,GA,AA		0.2907,0.0454,0.2076	benign,benign	786/812,785/811	38345409	27,12979	2203	4300	6503	SO:0001583	missense	7581	exon5			ATTTCCAGCCACA	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2354A>G	10.37:g.38345409A>G	ENSP00000387713:p.Gln785Arg	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	95	24	0.252632	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	7.459	0.644218	0.14451	4.54E-4	0.002907	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.46;3.2;3.2	1.92	0.561	0.17285	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.012	B;B;B	0.09377	0.004;0.002;0.004	T	0.40961	-0.9535	9	0.87932	D	0	.	2.6079	0.04883	0.4659:0.2692:0.0:0.2649	.	792;785;786	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	786;792;785;785	ENSP00000363747:Q786R;ENSP00000402467:Q792R;ENSP00000387713:Q785R;ENSP00000304268:Q785R	ENSP00000304268:Q785R	Q	+	2	0	ZNF33A	38385415	0.000000	0.05858	0.007000	0.13788	0.142000	0.21351	-0.152000	0.10159	-0.018000	0.14079	0.260000	0.18958	CAG	A|0.998;G|0.002	0.002	strong		0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		G	38345409	A	G	38345409	3	3	23	1	0	0	0	0	1	0	0	0	17851	188	7	3	2371	3	ZNF33A	10	38345409	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	514	38345409	97189338	2483	18939										
ZNF33A	7581	hgsc.bcm.edu	37	chr10	38345455	38345455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagagtattcacactgtggAgaaagccctgatgacatcct	9	10	2	4	rs12242343	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:38345455A>G	ENST00000458705.2	+	5	2558	c.2400A>G	c.(2398-2400)ggA>ggG	p.G800G	ZNF33A_ENST00000374618.3_Silent_p.G801G|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.G800G|ZNF33A_ENST00000432900.2_Silent_p.G807G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CACACTGTGGAGAAAGCCCTG	0.388													A|||	140	0.0279553	0.0915	0.013	5008	,	,		18836	0.0		0.0099	False		,,,				2504	0.0				p.G801G		Atlas-SNP	.											.	ZNF33A	103	.	0			c.A2403G						PASS	.	A	,	359,4047	175.9+/-205.1	19,321,1863	61	59	60		2403,2400	1.9	0.1	10	dbSNP_120	60	53,8547	32.3+/-84.9	0,53,4247	no	coding-synonymous,coding-synonymous	ZNF33A	NM_006954.1,NM_006974.2	,	19,374,6110	GG,GA,AA		0.6163,8.148,3.1678	,	801/812,800/811	38345455	412,12594	2203	4300	6503	SO:0001819	synonymous_variant	7581	exon5			CTGTGGAGAAAGC	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2400A>G	10.37:g.38345455A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	66	17	0.257576	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	CCDS31182.1																																																																																			A|0.968;G|0.032	0.032	strong		0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		G	38345455	A	G	38345455	2	3	23	1	0	0	0	0	0	0	0	1	17851	291	11	3		3	ZNF33A	10	38345455	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	46	38345455	97189292	2484	18940										
ZNF33B	7582	hgsc.bcm.edu	37	chr10	43089278	43089278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgtgtgatctctgatgttTagtgaggtttgacttctccc	11	7	2	4	rs71505624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:43089278T>C	ENST00000359467.3	-	5	1234	c.1120A>G	c.(1120-1122)Aaa>Gaa	p.K374E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTCTGATGTTTAGTGAGGTTT	0.433													t|||	7	0.00139776	0.0	0.0014	5008	,	,		20809	0.0		0.004	False		,,,				2504	0.002				p.K374E	Melanoma(137;1247 1767 16772 25727 43810)	Atlas-SNP	.											.	ZNF33B	78	.	0			c.A1120G						PASS	.	T	GLU/LYS	2,4404	4.2+/-10.8	0,2,2201	117	117	117		1120	2.3	1	10	dbSNP_130	117	20,8580	14.6+/-50.1	0,20,4280	yes	missense	ZNF33B	NM_006955.1	56	0,22,6481	CC,CT,TT		0.2326,0.0454,0.1692	probably-damaging	374/779	43089278	22,12984	2203	4300	6503	SO:0001583	missense	7582	exon5			GATGTTTAGTGAG	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1120A>G	10.37:g.43089278T>C	ENSP00000352444:p.Lys374Glu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	174	33	0.189655	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	T	5.009	0.187437	0.09547	4.54E-4	0.002326	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.19394	2.15	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001658	T	0.17959	0.0431	N	0.12569	0.235	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.13548	-1.0505	10	0.02654	T	1	.	8.5071	0.33195	0.0:0.0:0.0:1.0	.	374	Q06732	ZN33B_HUMAN	E	374;340	ENSP00000352444:K374E	ENSP00000352444:K374E	K	-	1	0	ZNF33B	42409284	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.059000	0.11731	1.324000	0.45282	0.341000	0.21757	AAA	T|0.998;C|0.002	0.002	strong		0.433	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		C	43089278	T	C	43089278	3	2	23	1	0	0	0	0	1	0	0	0	17852	1763	61	2	1220	2	ZNF33B	10	43089278	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4743823	43089278	92445469	2485	18941										
ZNF33B	7582	hgsc.bcm.edu	37	chr10	43089370	43089370	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctctgatgtcgagtgagaTgtgacttctcccagaaagct	10	11	2	4	rs71505625	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:43089370T>A	ENST00000359467.3	-	5	1142	c.1028A>T	c.(1027-1029)cAt>cTt	p.H343L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TCGAGTGAGATGTGACTTCTC	0.413													t|||	7	0.00139776	0.0	0.0014	5008	,	,		22122	0.0		0.004	False		,,,				2504	0.002				p.H343L	Melanoma(137;1247 1767 16772 25727 43810)	Atlas-SNP	.											.	ZNF33B	78	.	0			c.A1028T						PASS	.	T	LEU/HIS	2,4404	4.2+/-10.8	0,2,2201	121	119	120		1028	2.3	1	10	dbSNP_130	120	20,8580	14.6+/-50.1	0,20,4280	no	missense	ZNF33B	NM_006955.1	99	0,22,6481	AA,AT,TT		0.2326,0.0454,0.1692	probably-damaging	343/779	43089370	22,12984	2203	4300	6503	SO:0001583	missense	7582	exon5			GTGAGATGTGACT	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1028A>T	10.37:g.43089370T>A	ENSP00000352444:p.His343Leu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	132	23	0.174242	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	T	4.540	0.100297	0.08731	4.54E-4	0.002326	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.18338	2.22	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207772	0.24160	N	0.040988	T	0.09774	0.0240	N	0.20483	0.58	0.09310	N	0.999998	B	0.10296	0.003	B	0.08055	0.003	T	0.24119	-1.0169	10	0.32370	T	0.25	.	8.5071	0.33195	0.0:0.0:0.0:1.0	.	343	Q06732	ZN33B_HUMAN	L	343;309	ENSP00000352444:H343L	ENSP00000352444:H343L	H	-	2	0	ZNF33B	42409376	0.000000	0.05858	0.998000	0.56505	0.966000	0.64601	0.224000	0.17738	1.324000	0.45282	0.341000	0.21757	CAT	T|0.998;A|0.002	0.002	strong		0.413	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		A	43089370	T	A	43089370	3	1	23	1	0	0	0	0	1	0	0	0	17852	1464	51	5	1312	5	ZNF33B	10	43089370	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	92	43089370	92445377	2486	18942										
C10orf10	11067	hgsc.bcm.edu	37	chr10	45473317	45473317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgggccgtggccttgtcCagcacagaggtgggctgtgc	16	13	0	1	rs3740094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45473317C>T	ENST00000298295.3	-	2	379	c.162G>A	c.(160-162)ctG>ctA	p.L54L	RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	54						mitochondrion (GO:0005739)				lung(1)	1						TGGCCTTGTCCAGCACAGAGG	0.667													C|||	739	0.147564	0.0083	0.1167	5008	,	,		16950	0.3056		0.1581	False		,,,				2504	0.184				p.L54L		Atlas-SNP	.											.	C10orf10	6	.	0			c.G162A						PASS	.	C	,	162,4242		5,152,2045	44	44	44		162,	-2.9	0	10	dbSNP_107	44	1406,7192		120,1166,3013	no	coding-synonymous,intron	C10orf10,RASSF4	NM_007021.3,NM_032023.3	,	125,1318,5058	TT,TC,CC		16.3526,3.6785,12.0597	,	54/213,	45473317	1568,11434	2202	4299	6501	SO:0001819	synonymous_variant	11067	exon2			CTTGTCCAGCACA	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.162G>A	10.37:g.45473317C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	34	28	0.823529	NM_007021	B2R6A1|O94997|Q5T735|Q76MX8	Silent	SNP	ENST00000298295.3	37	CCDS7210.1																																																																																			C|0.872;T|0.128	0.128	strong		0.667	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		T	45473317	C	T	45473317	2	4	23	1	0	0	0	0	0	0	0	1	1580	581	21	2		2	C10orf10	10	45473317	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2383947	45473317	90061430	2487	18943										
RASSF4	83937	hgsc.bcm.edu	37	chr10	45478092	45478092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccacctcatggatgcccAgacggcctagctgccctctg	9	18	2	1	rs870957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45478092A>G	ENST00000340258.5	+	4	375	c.262A>G	c.(262-264)Aga>Gga	p.R88G	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.R88G|RASSF4_ENST00000334940.6_Missense_Mutation_p.R70G	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	624					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATGCCCAGACGGCCTAG	0.667													.|||	1406	0.280751	0.3782	0.1412	5008	,	,		19294	0.3194		0.171	False		,,,				2504	0.3211				p.R88G		Atlas-SNP	.											.	RASSF4	33	.	0			c.A262G						PASS	.	G	GLY/ARG	1484,2922	676.9+/-403.3	254,976,973	72	70	71		262	1.4	0	10	dbSNP_86	71	1499,7101	747.6+/-407.3	120,1259,2921	yes	missense	RASSF4	NM_032023.3	125	374,2235,3894	GG,GA,AA		17.4302,33.6813,22.9356	benign	88/322	45478092	2983,10023	2203	4300	6503	SO:0001583	missense	83937	exon4			ATGCCCAGACGGC	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.262A>G	10.37:g.45478092A>G	ENSP00000339692:p.Arg88Gly	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	121	24	0.198347	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	CCDS7208.1	575	0.2632783882783883	189	0.38414634146341464	62	0.1712707182320442	196	0.34265734265734266	128	0.16886543535620052	G	0.027	-1.361971	0.01235	0.336813	0.174302	ENSG00000107551	ENST00000334940;ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T;T	0.30448	2.54;1.54;2.56;1.53;1.53	4.39	1.39	0.22231	.	0.619583	0.14038	N	0.345633	T	0.00012	0.0000	N	0.00621	-1.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	9	0.22109	T	0.4	-1.7041	5.0423	0.14465	0.1868:0.3279:0.4853:0.0	rs870957;rs11540202;rs56589186;rs57926736;rs870957	88	Q9H2L5	RASF4_HUMAN	G	70;88;88;88;88;81;179	ENSP00000334543:R70G;ENSP00000363538:R88G;ENSP00000339692:R88G;ENSP00000409767:R88G;ENSP00000413468:R81G	ENSP00000334543:R70G	R	+	1	2	RASSF4	44798098	0.087000	0.21565	0.000000	0.03702	0.002000	0.02628	0.681000	0.25320	0.069000	0.16605	-0.119000	0.15052	AGA	A|0.750;G|0.250	0.250	strong		0.667	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		G	45478092	A	G	45478092	3	3	23	1	0	0	0	0	1	0	0	0	13088	180	7	3	272	3	RASSF4	10	45478092	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4775	45478092	90056655	2488	18944										
RASSF4	83937	hgsc.bcm.edu	37	chr10	45480313	45480313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgatgcggaccaagagcgaCgccagttgcatgagccagag	14	11	0	4	rs35521977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45480313C>T	ENST00000374417.2	+	5	468	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.5_Silent_p.D142D|RASSF4_ENST00000334940.6_Silent_p.D151D			Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCAAGAGCGACGCCAGTTGCA	0.642													.|||	28	0.00559105	0.0	0.0072	5008	,	,		17923	0.001		0.0209	False		,,,				2504	0.001				p.D142D		Atlas-SNP	.											.	RASSF4	33	.	0			c.C426T						PASS	.	C		10,4396	16.8+/-37.8	0,10,2193	80	98	92		426	-2.9	0	10	dbSNP_126	92	186,8414	84.2+/-146.7	2,182,4116	no	coding-synonymous	RASSF4	NM_032023.3		2,192,6309	TT,TC,CC		2.1628,0.227,1.507		142/322	45480313	196,12810	2203	4300	6503	SO:0001583	missense	83937	exon6			GAGCGACGCCAGT	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000374417.2:c.334C>T	10.37:g.45480313C>T	ENSP00000363538:p.Arg112Cys	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	160	49	0.30625	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000374417.2	37		20	0.009157509157509158	0	0.0	4	0.011049723756906077	0	0.0	16	0.021108179419525065	C	15.83	2.947848	0.53186	0.00227	0.021628	ENSG00000107551	ENST00000374417	T	0.32272	1.46	5.82	-2.88	0.05682	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.27314	N	0.957236	.	.	.	.	.	.	T	0.31558	-0.9939	6	0.41790	T	0.15	-33.1761	11.8796	0.52566	0.0:0.3216:0.0:0.6784	rs35521977	.	.	.	C	112	ENSP00000363538:R112C	ENSP00000363538:R112C	R	+	1	0	RASSF4	44800319	0.014000	0.17966	0.047000	0.18901	0.264000	0.26372	-1.171000	0.03115	-0.807000	0.04393	-0.742000	0.03525	CGC	C|0.987;T|0.013	0.013	strong		0.642	RASSF4-202	KNOWN	basic	protein_coding	protein_coding		NM_032023		T	45480313	C	T	45480313	3	4	23	1	0	0	0	0	1	0	0	0	13088	535	19	1	444	1	RASSF4	10	45480313	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2221	45480313	90054434	2489	18945										
C10orf25	220979	hgsc.bcm.edu	37	chr10	45496126	45496126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaaaatctcaaaatttgtGgaaagtatgcagtttctagg	8	5	3	0	rs41301609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45496126G>A	ENST00000298298.1	-	1	210	c.182C>T	c.(181-183)cCa>cTa	p.P61L	ZNF22_ENST00000298299.3_5'UTR|CEP164P1_ENST00000456938.2_RNA	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	61			P -> L (in dbSNP:rs41301609).			extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CAAAATTTGTGGAAAGTATGC	0.458													A|||	276	0.0551118	0.0749	0.013	5008	,	,		17077	0.0972		0.0427	False		,,,				2504	0.0276				p.P61L		Atlas-SNP	.											.	C10orf25	11	.	0			c.C182T						PASS	.	A	LEU/PRO	243,4163	802.0+/-415.6	7,229,1967	72	74	73		182	-5.2	0	10	dbSNP_127	73	404,8196	800.0+/-407.4	6,392,3902	yes	missense	C10orf25	NM_001039380.2	98	13,621,5869	AA,AG,GG		4.6977,5.5152,4.9746	benign	61/123	45496126	647,12359	2203	4300	6503	SO:0001583	missense	220979	exon1			ATTTGTGGAAAGT	AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.182C>T	10.37:g.45496126G>A	ENSP00000298298:p.Pro61Leu	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	60	13	0.216667	NM_001039380	A1L424|Q96NM5	Missense_Mutation	SNP	ENST00000298298.1	37	CCDS31187.1	146	0.06684981684981685	41	0.08333333333333333	6	0.016574585635359115	66	0.11538461538461539	33	0.04353562005277045	A	6.705	0.498748	0.12762	0.055152	0.046977	ENSG00000165511	ENST00000298298	T	0.39997	1.05	2.81	-5.15	0.02866	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.54753	P	1.3000000000040757E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.12734	-1.0536	8	0.87932	D	0	.	9.3936	0.38388	0.1834:0.1546:0.662:0.0	rs41301609	61	Q5T742	CJ025_HUMAN	L	61	ENSP00000298298:P61L	ENSP00000298298:P61L	P	-	2	0	C10orf25	44816132	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.507000	0.06352	-1.884000	0.01119	-0.360000	0.07572	CCA	G|0.948;A|0.052	0.052	strong		0.458	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047763.1	NM_145022		A	45496126	G	A	45496126	3	1	23	1	0	0	0	0	1	0	0	0	1598	1348	47	2	194	2	C10orf25	10	45496126	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15813	45496126	90038621	2490	18946										
ZNF22	7570	hgsc.bcm.edu	37	chr10	45499009	45499009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaatgtgaaaagagtttcAgtcagagttcaactcttttt	8	6	4	4	rs3740093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45499009A>G	ENST00000298299.3	+	2	786	c.193A>G	c.(193-195)Agt>Ggt	p.S65G	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	65			S -> G (in dbSNP:rs3740093).		odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				AAAGAGTTTCAGTCAGAGTTC	0.383													A|||	172	0.034345	0.003	0.0101	5008	,	,		19023	0.0903		0.0427	False		,,,				2504	0.0276				p.S65G		Atlas-SNP	.											.	ZNF22	28	.	0			c.A193G						PASS	.	A	GLY/SER	38,4368	42.3+/-75.8	0,38,2165	57	58	57		193	4	1	10	dbSNP_107	57	416,8184	131.3+/-189.1	6,404,3890	yes	missense	ZNF22	NM_006963.4	56	6,442,6055	GG,GA,AA		4.8372,0.8625,3.4907	possibly-damaging	65/225	45499009	454,12552	2203	4300	6503	SO:0001583	missense	7570	exon2			AGTTTCAGTCAGA	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.193A>G	10.37:g.45499009A>G	ENSP00000298299:p.Ser65Gly	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	27	6	0.222222	NM_006963	Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	CCDS7211.1	105	0.04807692307692308	2	0.0040650406504065045	6	0.016574585635359115	63	0.11013986013986014	34	0.044854881266490766	A	12.94	2.089623	0.36855	0.008625	0.048372	ENSG00000165512	ENST00000298299	T	0.56275	0.47	5.12	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108383	0.41712	D	0.000823	T	0.01061	0.0035	L	0.49455	1.56	0.34819	P	0.26148800000000005	B	0.02656	0.0	B	0.04013	0.001	T	0.15235	-1.0444	9	0.59425	D	0.04	-25.481	9.1349	0.36868	0.9134:0.0:0.0866:0.0	rs3740093;rs52824035;rs3740093	65	P17026	ZNF22_HUMAN	G	65	ENSP00000298299:S65G	ENSP00000298299:S65G	S	+	1	0	ZNF22	44819015	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	0.771000	0.26633	0.951000	0.37770	-0.290000	0.09829	AGT	A|0.958;G|0.042	0.042	strong		0.383	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		G	45499009	A	G	45499009	3	3	23	1	0	0	0	0	1	0	0	0	17771	188	7	3	195	3	ZNF22	10	45499009	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2883	45499009	90035738	2491	18947										
ZNF22	7570	hgsc.bcm.edu	37	chr10	45499272	45499272	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtgtttcagccagagctcCcaccttattcaacatcagag	8	13	3	2	rs3740092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:45499272C>G	ENST00000298299.3	+	2	1049	c.456C>G	c.(454-456)tcC>tcG	p.S152S	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	152					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GCCAGAGCTCCCACCTTATTC	0.483													C|||	187	0.0373403	0.0151	0.0101	5008	,	,		17093	0.0893		0.0427	False		,,,				2504	0.0276				p.S152S		Atlas-SNP	.											ZNF22,colon,carcinoma,0,1	ZNF22	28	1	0			c.C456G						PASS	.	C		63,4343	60.5+/-97.4	0,63,2140	92	98	96		456	1.7	1	10	dbSNP_107	96	417,8183	131.3+/-189.1	6,405,3889	no	coding-synonymous	ZNF22	NM_006963.4		6,468,6029	GG,GC,CC		4.8488,1.4299,3.6906		152/225	45499272	480,12526	2203	4300	6503	SO:0001819	synonymous_variant	7570	exon2			GAGCTCCCACCTT	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.456C>G	10.37:g.45499272C>G		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	37	12	0.324324	NM_006963	Q5T741|Q96FM4	Silent	SNP	ENST00000298299.3	37	CCDS7211.1																																																																																			C|0.960;G|0.040	0.040	strong		0.483	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		G	45499272	C	G	45499272	2	3	23	1	0	0	0	0	0	0	0	1	17771	610	22	4		4	ZNF22	10	45499272	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263	45499272	90035475	2492	18948										
SYT15	83849	hgsc.bcm.edu	37	chr10	46967514	46967514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgctcatcgggcagcaggTagagcttcaccagggggctg	16	12	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:46967514T>C	ENST00000374321.4	-	4	629	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	SYT15_ENST00000374325.3_Missense_Mutation_p.Y188C|SYT15_ENST00000503753.1_Missense_Mutation_p.Y188C|SYT15_ENST00000374323.4_Missense_Mutation_p.Y241C|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	188	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGGCAGCAGGTAGAGCTTCAC	0.592																																					p.Y188C	Ovarian(57;1152 1428 19651 37745)	Atlas-SNP	.											.	SYT15	165	.	0			c.A563G						PASS	.						68	81	77					10																	46967514		2071	4211	6282	SO:0001583	missense	83849	exon4			AGCAGGTAGAGCT	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.563A>G	10.37:g.46967514T>C	ENSP00000363441:p.Tyr188Cys	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	145	15	0.103448	NM_031912	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	15.71	2.913590	0.52439	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	4.92	4.92	0.64577	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.238169	0.42964	D	0.000627	T	0.09818	0.0241	L	0.51914	1.62	0.34918	D	0.748104	B;B	0.20550	0.005;0.046	B;B	0.21708	0.013;0.036	T	0.12400	-1.0549	9	.	.	.	.	12.8277	0.57728	0.0:0.0:0.0:1.0	.	188;188	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	C	188;188;188;27;241;188;72	ENSP00000363445:Y188C;ENSP00000427607:Y188C;ENSP00000363443:Y241C;ENSP00000363441:Y188C;ENSP00000424803:Y72C	.	Y	-	2	0	SYT15	46387520	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	5.085000	0.64468	1.974000	0.57490	0.533000	0.62120	TAC	.	.	none		0.592	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		C	46967514	T	C	46967514	3	2	23	1	0	0	0	0	1	0	0	0	15468	1638	57	2	776	2	SYT15	10	46967514	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1468242	46967514	88567233	2493	18949										
GPRIN2	9721	hgsc.bcm.edu	37	chr10	46999922	46999922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtggcggcctgcaaggctGtggccaccagtccgtccctg	14	15	0	0	rs4926046	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:46999922G>T	ENST00000374317.1	+	3	1315	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V348L	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	348										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCAAGGCTGTGGCCACCAG	0.672																																					p.V348L		Atlas-SNP	.											GPRIN2,colon,carcinoma,0,1	GPRIN2	94	1	0			c.G1042T						scavenged	.						51	53	52					10																	46999922		2203	4300	6503	SO:0001583	missense	9721	exon3			AAGGCTGTGGCCA	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1042G>T	10.37:g.46999922G>T	ENSP00000363436:p.Val348Leu	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	98	26	0.265306	NM_014696	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	799	0.3658424908424908	95	0.19308943089430894	136	0.3756906077348066	287	0.5017482517482518	281	0.370712401055409	G	20.7	4.034376	0.75617	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.30981	1.51;1.51	4.85	4.85	0.62838	.	0.000000	0.38111	N	0.001808	T	0.00012	0.0000	M	0.77103	2.36	0.53688	D	0.999976	D	0.76494	0.999	D	0.80764	0.994	T	0.49978	-0.8881	10	0.87932	D	0	-18.1542	15.8316	0.78757	0.0:0.0:1.0:0.0	rs4926046	348	O60269	GRIN2_HUMAN	L	348	ENSP00000363436:V348L;ENSP00000363433:V348L	ENSP00000363433:V348L	V	+	1	0	GPRIN2	46419928	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.918000	0.63376	2.415000	0.81967	0.313000	0.20887	GTG	G|0.634;T|0.366	0.366	strong		0.672	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	46999922	G	T	46999922	3	4	23	1	0	0	0	0	1	0	0	0	6730	1377	48	4	1044	4	GPRIN2	10	46999922	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32408	46999922	88534825	2494	18950										
FRMPD2	143162	hgsc.bcm.edu	37	chr10	49383976	49383976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatggcacactggtgttaaTgccaccctgaaaaacacaac	7	11	0	1	rs200957845		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:49383976T>C	ENST00000374201.3	-	23	3204	c.2902A>G	c.(2902-2904)Att>Gtt	p.I968V	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.I936V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.I943V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	968	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGTTAATGCCACCCTGA	0.532																																					p.I968V		Atlas-SNP	.											FRMPD2,NS,carcinoma,0,1	FRMPD2	157	1	0			c.A2902G						scavenged	.						3	1	1					10																	49383976		81	163	244	SO:0001583	missense	143162	exon23			TGTTAATGCCACC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2902A>G	10.37:g.49383976T>C	ENSP00000363317:p.Ile968Val	Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	265	46	0.173585	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.452426	0.01080	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.26810	1.71;1.71;1.71	4.81	-0.335	0.12662	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.10723	0.0262	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.18863	0.006;0.031;0.016	B;B;B	0.23419	0.016;0.046;0.024	T	0.39165	-0.9627	9	0.21540	T	0.41	.	9.0019	0.36088	0.0:0.3679:0.0:0.6321	.	943;968;936	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	968;943;936	ENSP00000363317:I968V;ENSP00000307079:I943V;ENSP00000384339:I936V	ENSP00000307079:I943V	I	-	1	0	FRMPD2	49053982	0.623000	0.27094	0.520000	0.27837	0.722000	0.41435	0.524000	0.22940	-0.339000	0.08401	0.528000	0.53228	ATT	T|0.500;C|0.500	0.500	weak		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		C	49383976	T	C	49383976	3	2	23	1	0	0	0	0	1	0	0	0	6058	1464	51	2	1055	2	FRMPD2	10	49383976	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2384054	49383976	86150771	2495	18951										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50531606	50531606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggaagagaacagacttgCagcaggggctctgtccacat	12	10	2	2	rs386743566|rs55780106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50531606C>A	ENST00000374144.3	+	3	1304	c.1016C>A	c.(1015-1017)gCa>gAa	p.A339E	C10orf71_ENST00000323868.4_Missense_Mutation_p.A339E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	339				A -> E (in Ref. 2; AL833265 and 4; AAI26414). {ECO:0000305}.						endometrium(1)	1						AACAGACTTGCAGCAGGGGCT	0.572													C|||	881	0.175919	0.1021	0.2594	5008	,	,		17311	0.3085		0.1481	False		,,,				2504	0.1084				p.A339E		Atlas-SNP	.											.	C10orf71	179	.	0			c.C1016A						PASS	.	C	GLU/ALA,GLU/ALA	499,3421		25,449,1486	47	51	49		1016,1016	1.1	0	10	dbSNP_129	49	1338,6972		106,1126,2923	yes	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	107,107	131,1575,4409	AA,AC,CC		16.1011,12.7296,15.0204	benign,benign	339/1436,339/720	50531606	1837,10393	1960	4155	6115	SO:0001583	missense	118461	exon3			GACTTGCAGCAGG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1016C>A	10.37:g.50531606C>A	ENSP00000363259:p.Ala339Glu	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	42	32	0.761905	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	474	0.21703296703296704	68	0.13821138211382114	90	0.24861878453038674	199	0.3479020979020979	117	0.15435356200527706	C	1.477	-0.558277	0.03967	0.127296	0.161011	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14391	2.51;3.63	5.4	1.13	0.20643	.	1.118300	0.06816	N	0.791357	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.24043	0.096	B	0.28638	0.092	T	0.46034	-0.9220	9	0.08837	T	0.75	.	7.5024	0.27526	0.0:0.6013:0.2534:0.1452	rs55780106	339	Q711Q0-3	.	E	339	ENSP00000318713:A339E;ENSP00000363259:A339E	ENSP00000318713:A339E	A	+	2	0	C10orf71	50201612	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.095000	0.15127	0.658000	0.30925	0.655000	0.94253	GCA	C|0.803;A|0.197	0.197	strong		0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50531606	C	A	50531606	3	1	23	1	0	0	0	0	1	0	0	0	1614	710	25	4	1018	4	C10orf71	10	50531606	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1147630	50531606	85003141	2496	18952										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50532588	50532588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagagaaaatgaagacccaCcagctagagaatgggctctc	10	10	1	4	rs10857469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50532588C>G	ENST00000374144.3	+	3	2286	c.1998C>G	c.(1996-1998)caC>caG	p.H666Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.H666Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	666			H -> Q (in dbSNP:rs10857469).							endometrium(1)	1						TGAAGACCCACCAGCTAGAGA	0.532													C|||	478	0.0954473	0.053	0.0663	5008	,	,		19595	0.122		0.1193	False		,,,				2504	0.1217				p.H666Q		Atlas-SNP	.											.	C10orf71	179	.	0			c.C1998G						PASS	.	C	GLN/HIS,GLN/HIS	190,3550		3,184,1683	36	39	38		1998,1998	-1.2	0	10	dbSNP_120	38	1085,7137		68,949,3094	yes	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	24,24	71,1133,4777	GG,GC,CC		13.1963,5.0802,10.6588	benign,benign	666/1436,666/720	50532588	1275,10687	1870	4111	5981	SO:0001583	missense	118461	exon3			GACCCACCAGCTA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1998C>G	10.37:g.50532588C>G	ENSP00000363259:p.His666Gln	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	59	17	0.288136	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	211	0.09661172161172162	32	0.06504065040650407	30	0.08287292817679558	60	0.1048951048951049	89	0.11741424802110818	C	11.54	1.669304	0.29604	0.050802	0.131963	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14893	2.47;3.59	5.53	-1.24	0.09435	.	0.981567	0.08269	N	0.971860	T	0.00109	0.0003	N	0.22421	0.69	0.80722	P	0.0	B	0.10296	0.003	B	0.13407	0.009	T	0.44574	-0.9319	9	0.10636	T	0.68	.	6.3808	0.21533	0.0:0.3596:0.4084:0.232	rs10857469;rs59643639;rs10857469	666	Q711Q0-3	.	Q	666	ENSP00000318713:H666Q;ENSP00000363259:H666Q	ENSP00000318713:H666Q	H	+	3	2	C10orf71	50202594	0.000000	0.05858	0.000000	0.03702	0.648000	0.38561	-0.954000	0.03873	-0.536000	0.06298	0.591000	0.81541	CAC	C|0.906;G|0.094	0.094	strong		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		G	50532588	C	G	50532588	3	3	23	1	0	0	0	0	1	0	0	0	1614	506	18	4	2000	4	C10orf71	10	50532588	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	982	50532588	85002159	2497	18953										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50532812	50532812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaatcctttgcctcatttgAtgatcagcagaagatgtggt	9	8	3	4	rs11101093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50532812A>G	ENST00000374144.3	+	3	2510	c.2222A>G	c.(2221-2223)gAt>gGt	p.D741G	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	741			D -> G (in dbSNP:rs11101093).							endometrium(1)	1						GCCTCATTTGATGATCAGCAG	0.463													A|||	478	0.0954473	0.053	0.0663	5008	,	,		22000	0.122		0.1193	False		,,,				2504	0.1217				p.D741G		Atlas-SNP	.											.	C10orf71	179	.	0			c.A2222G						PASS	.	A	GLY/ASP,	76,1308		0,76,616	73	60	64		2222,	5.6	0.5	10	dbSNP_120	64	414,2768		24,366,1201	yes	missense,intron	C10orf71	NM_001135196.1,NM_199459.3	94,	24,442,1817	GG,GA,AA		13.0107,5.4913,10.7315	,	741/1436,	50532812	490,4076	692	1591	2283	SO:0001583	missense	118461	exon3			CATTTGATGATCA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2222A>G	10.37:g.50532812A>G	ENSP00000363259:p.Asp741Gly	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	164	35	0.213415	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	211	0.09661172161172162	32	0.06504065040650407	30	0.08287292817679558	60	0.1048951048951049	89	0.11741424802110818	A	14.84	2.655166	0.47467	0.054913	0.130107	ENSG00000177354	ENST00000374144	T	0.05081	3.5	5.64	5.64	0.86602	.	0.732696	0.11145	U	0.594792	T	0.00073	0.0002	N	0.08118	0	0.36653	P	0.12250799999999995	.	.	.	.	.	.	T	0.39781	-0.9597	7	0.54805	T	0.06	.	6.769	0.23583	0.6973:0.1449:0.0:0.1579	rs11101093;rs57806961;rs11101093	.	.	.	G	741	ENSP00000363259:D741G	ENSP00000363259:D741G	D	+	2	0	C10orf71	50202818	0.988000	0.35896	0.520000	0.27837	0.940000	0.58332	3.080000	0.50112	2.160000	0.67779	0.482000	0.46254	GAT	A|0.908;G|0.092	0.092	strong		0.463	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		G	50532812	A	G	50532812	3	3	23	1	0	0	0	0	1	0	0	0	1614	333	12	2	2224	2	C10orf71	10	50532812	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	224	50532812	85001935	2498	18954										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50533463	50533463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagccccaaaggggaattTcccatctatgcctctggtgg	11	13	2	0	rs10857470	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50533463T>A	ENST00000374144.3	+	3	3161	c.2873T>A	c.(2872-2874)tTc>tAc	p.F958Y	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	958			F -> Y (in dbSNP:rs10857470).							endometrium(1)	1						AAGGGGAATTTCCCATCTATG	0.617													T|||	478	0.0954473	0.053	0.0663	5008	,	,		17494	0.122		0.1193	False		,,,				2504	0.1217				p.F958Y		Atlas-SNP	.											.	C10orf71	179	.	0			c.T2873A						PASS	.	T	TYR/PHE,	71,1313		0,71,621	18	21	20		2873,	1	0	10	dbSNP_120	20	408,2774		25,358,1208	yes	missense,intron	C10orf71	NM_001135196.1,NM_199459.3	22,	25,429,1829	AA,AT,TT		12.8221,5.1301,10.4906	,	958/1436,	50533463	479,4087	692	1591	2283	SO:0001583	missense	118461	exon3			GGAATTTCCCATC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2873T>A	10.37:g.50533463T>A	ENSP00000363259:p.Phe958Tyr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	65	15	0.230769	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	211	0.09661172161172162	32	0.06504065040650407	30	0.08287292817679558	60	0.1048951048951049	89	0.11741424802110818	T	11.57	1.677426	0.29783	0.051301	0.128221	ENSG00000177354	ENST00000374144	T	0.04551	3.6	5.06	0.982	0.19762	.	0.774300	0.10520	U	0.665098	T	0.00073	0.0002	N	0.19112	0.55	0.80722	P	0.0	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.54805	T	0.06	.	8.8382	0.35126	0.0:0.2548:0.0:0.7452	rs10857470;rs10857470	.	.	.	Y	958	ENSP00000363259:F958Y	ENSP00000363259:F958Y	F	+	2	0	C10orf71	50203469	0.001000	0.12720	0.000000	0.03702	0.166000	0.22503	0.596000	0.24044	0.288000	0.22398	-0.483000	0.04790	TTC	T|0.906;A|0.094	0.094	strong		0.617	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50533463	T	A	50533463	3	1	23	1	0	0	0	0	1	0	0	0	1614	1783	62	5	2875	5	C10orf71	10	50533463	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	651	50533463	85001284	2499	18955										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50533841	50533841	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagtcttcccaggcccctgGaggaccagagctgcttcccg	13	15	1	1	rs11101094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50533841G>C	ENST00000374144.3	+	3	3539	c.3251G>C	c.(3250-3252)gGa>gCa	p.G1084A	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1084			G -> A (in dbSNP:rs11101094).							endometrium(1)	1						CAGGCCCCTGGAGGACCAGAG	0.677													G|||	479	0.095647	0.053	0.0663	5008	,	,		14063	0.122		0.1203	False		,,,				2504	0.1217				p.G1084A		Atlas-SNP	.											.	C10orf71	179	.	0			c.G3251C						PASS	.						9	13	12					10																	50533841		689	1588	2277	SO:0001583	missense	118461	exon3			CCCCTGGAGGACC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3251G>C	10.37:g.50533841G>C	ENSP00000363259:p.Gly1084Ala	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	64	7	0.109375	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	211	0.09661172161172162	32	0.06504065040650407	30	0.08287292817679558	60	0.1048951048951049	89	0.11741424802110818	G	0.004	-2.326711	0.00229	.	.	ENSG00000177354	ENST00000374144	T	0.04317	3.65	5.22	0.808	0.18719	.	0.766268	0.10833	N	0.629157	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	.	.	.	.	.	.	T	0.43032	-0.9416	7	0.07175	T	0.84	.	3.9484	0.09358	0.1554:0.122:0.5817:0.1409	rs11101094;rs11101094	.	.	.	A	1084	ENSP00000363259:G1084A	ENSP00000363259:G1084A	G	+	2	0	C10orf71	50203847	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	0.581000	0.23819	0.593000	0.29745	0.313000	0.20887	GGA	G|0.907;C|0.093	0.093	strong		0.677	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		C	50533841	G	C	50533841	3	2	23	1	0	0	0	0	1	0	0	0	1614	1174	41	4	3253	4	C10orf71	10	50533841	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	378	50533841	85000906	2500	18956										
CHAT	1103	hgsc.bcm.edu	37	chr10	50854637	50854637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaggcgtggagctcagcGacacccacagggcactccag	14	14	1	0	rs8178991	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50854637G>A	ENST00000337653.2	+	8	1351	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	CHAT_ENST00000351556.3_Missense_Mutation_p.D282N|CHAT_ENST00000455728.2_Missense_Mutation_p.D282N|CHAT_ENST00000339797.1_Missense_Mutation_p.D282N|CHAT_ENST00000395559.2_Missense_Mutation_p.D282N|CHAT_ENST00000395562.2_Missense_Mutation_p.D318N	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	400			D -> N (in dbSNP:rs8178991).		adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAGCTCAGCGACACCCACAG	0.637													G|||	30	0.00599042	0.0015	0.0101	5008	,	,		20906	0.0		0.0199	False		,,,				2504	0.001				p.D400N		Atlas-SNP	.											.	CHAT	162	.	0			c.G1198A						PASS	.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	21,4385	29.0+/-57.7	0,21,2182	92	81	84		844,952,844,1198,844,844,844	4.3	0.9	10	dbSNP_117	84	189,8411	85.0+/-147.5	4,181,4115	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	23,23,23,23,23,23,23	4,202,6297	AA,AG,GG		2.1977,0.4766,1.6146	benign,benign,benign,benign,benign,benign,benign	282/631,318/667,282/631,400/749,282/631,282/631,282/631	50854637	210,12796	2203	4300	6503	SO:0001583	missense	1103	exon8			CTCAGCGACACCC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1198G>A	10.37:g.50854637G>A	ENSP00000337103:p.Asp400Asn	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_020549	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	19	0.0086996336996337	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	15	0.01978891820580475	G	19.11	3.763636	0.69878	0.004766	0.021977	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.27	4.34	0.51931	.	0.099000	0.64402	D	0.000003	T	0.72277	0.3440	M	0.78223	2.4	0.58432	D	0.999996	B;D	0.56968	0.339;0.978	B;P	0.48524	0.096;0.58	T	0.78738	-0.2087	10	0.51188	T	0.08	-24.4513	10.8728	0.46894	0.0727:0.1312:0.7961:0.0	rs8178991	282;400	F8W8I2;P28329	.;CLAT_HUMAN	N	282;282;282;400;318;282	ENSP00000343486:D282N;ENSP00000345878:D282N;ENSP00000378926:D282N;ENSP00000337103:D400N;ENSP00000378929:D318N;ENSP00000390521:D282N	ENSP00000337103:D400N	D	+	1	0	CHAT	50524643	1.000000	0.71417	0.898000	0.35279	0.926000	0.56050	4.110000	0.57831	1.162000	0.42619	0.655000	0.94253	GAC	G|0.986;A|0.014	0.014	strong		0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		A	50854637	G	A	50854637	3	1	23	1	0	0	0	0	1	0	0	0	3313	1058	37	1	1272	1	CHAT	10	50854637	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	320796	50854637	84680110	2501	18957										
C10orf53	282966	hgsc.bcm.edu	37	chr10	50901938	50901938	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacattaaggacttggagttCggtaagccctttggcgatgc	12	8	0	0	rs1133837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50901938C>T	ENST00000374111.3	+	2	228	c.216C>T	c.(214-216)ttC>ttT	p.F72F	C10orf53_ENST00000374112.3_Splice_Site_p.F72F|C10orf53_ENST00000535836.1_Splice_Site_p.F72F|C10orf53_ENST00000374113.3_Silent_p.F72F	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	72										endometrium(1)|lung(6)	7		all_neural(218;0.107)				ACTTGGAGTTCGGTAAGCCCT	0.453													C|||	1768	0.353035	0.3707	0.3732	5008	,	,		23180	0.1389		0.4761	False		,,,				2504	0.409				p.F72F		Atlas-SNP	.											.	C10orf53	19	.	0			c.C216T						PASS	.	C	,	1676,2730	508.9+/-367.1	324,1028,851	169	155	160		216,216	-1.3	1	10	dbSNP_86	160	4053,4547	559.2+/-387.4	939,2175,1186	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	C10orf53	NM_001042427.1,NM_182554.2	,	1263,3203,2037	TT,TC,CC		47.1279,38.039,44.0489	,	72/94,72/158	50901938	5729,7277	2203	4300	6503	SO:0001630	splice_region_variant	282966	exon2			GGAGTTCGGTAAG	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.217+1C>T	10.37:g.50901938C>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	101	74	0.732673	NM_182554	A6NI81|A6NLE0|B9ZVK6	Silent	SNP	ENST00000374111.3	37	CCDS41521.1																																																																																			C|0.595;T|0.405	0.405	strong		0.453	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554	Silent	T	50901938	C	T	50901938	5	4	23	1	0	0	0	0	0	0	1	0	1606	898	31	1	222	1	C10orf53	10	50901938	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47301	50901938	84632809	2502	18958										
OGDHL	55753	hgsc.bcm.edu	37	chr10	50959965	50959965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaacttctgccggatccaCtggcactgctccacatcgtt	7	15	2	0	rs7090775	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:50959965C>T	ENST00000374103.4	-	6	742	c.657G>A	c.(655-657)caG>caA	p.Q219Q	OGDHL_ENST00000432695.1_Silent_p.Q10Q|OGDHL_ENST00000419399.1_Silent_p.Q162Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	219					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCGGATCCACTGGCACTGCT	0.592													C|||	274	0.0547125	0.0877	0.0331	5008	,	,		19769	0.004		0.0219	False		,,,				2504	0.1115				p.Q219Q		Atlas-SNP	.											.	OGDHL	149	.	0			c.G657A						PASS	.	C	,,	263,4143	150.3+/-184.3	10,243,1950	193	187	189		486,30,657	4.7	1	10	dbSNP_116	189	287,8313	107.8+/-168.5	4,279,4017	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	,,	14,522,5967	TT,TC,CC		3.3372,5.9691,4.2288	,,	162/954,10/802,219/1011	50959965	550,12456	2203	4300	6503	SO:0001819	synonymous_variant	55753	exon6			GATCCACTGGCAC	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.657G>A	10.37:g.50959965C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	92	73	0.793478	NM_018245	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	CCDS7234.1																																																																																			C|0.960;T|0.040	0.040	strong		0.592	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		T	50959965	C	T	50959965	2	4	23	1	0	0	0	0	0	0	0	1	10840	564	20	2		2	OGDHL	10	50959965	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	58027	50959965	84574782	2503	18959										
FAM21A	387680	hgsc.bcm.edu	37	chr10	51827934	51827934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgggagcggccgtggtcgGtggaggagatccgcaggagc	21	8	0	1	rs55875820	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:51827934G>A	ENST00000282633.5	+	2	118	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000351071.6_Missense_Mutation_p.V25M|FAM21A_ENST00000314664.7_Missense_Mutation_p.V25M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	25					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GCCGTGGTCGGTGGAGGAGAT	0.701													.|||	1540	0.307508	0.0681	0.3213	5008	,	,		12321	0.3304		0.5189	False		,,,				2504	0.3804				p.V25M		Atlas-SNP	.											FAM21A,NS,carcinoma,0,1	FAM21A	32	1	0			c.G73A						PASS	.	G	MET/VAL	488,3032		88,312,1360	8	12	11		73	1.6	1	10	dbSNP_129	11	3767,4229		1086,1595,1317	no	missense	FAM21A	NM_001005751.1	21	1174,1907,2677	AA,AG,GG		47.1111,13.8636,36.9486	benign	25/1342	51827934	4255,7261	1760	3998	5758	SO:0001583	missense	387680	exon2			TGGTCGGTGGAGG	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.73G>A	10.37:g.51827934G>A	ENSP00000282633:p.Val25Met	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	56	54	0.964286	NM_001005751	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	677	0.309981684981685	36	0.07317073170731707	112	0.30939226519337015	189	0.3304195804195804	340	0.44854881266490765	G	13.62	2.291169	0.40494	0.138636	0.471111	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	2.71	1.65	0.23941	.	0.156736	0.42821	D	0.000653	T	0.00012	0.0000	L	0.59912	1.85	0.09310	P	0.9999999999999996	B;B;B	0.30634	0.181;0.288;0.181	B;B;B	0.34722	0.136;0.136;0.188	T	0.46803	-0.9165	8	0.72032	D	0.01	-9.0815	6.6531	0.22973	0.0:0.0:0.5652:0.4347	rs55875820	25;25;25	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	M	25;25;24;25	.	ENSP00000282633:V25M	V	+	1	0	FAM21A	51497940	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	2.625000	0.46452	1.523000	0.49018	0.194000	0.17425	GTG	G|0.689;A|0.311	0.311	strong		0.701	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		A	51827934	G	A	51827934	3	1	23	1	0	0	0	0	1	0	0	0	5540	1261	44	2	79	2	FAM21A	10	51827934	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	867969	51827934	83706813	2504	18960										
A1CF	29974	hgsc.bcm.edu	37	chr10	52573698	52573698	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcccaggtaaaatgtcataGagtttgtcttctcttttgtc	7	8	3	1	rs41274048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:52573698G>A	ENST00000373993.1	-	8	1310	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	A1CF_ENST00000373995.3_Silent_p.L422L|A1CF_ENST00000373997.3_Silent_p.L414L|A1CF_ENST00000395495.1_Silent_p.L367L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.L422L|A1CF_ENST00000374001.2_Silent_p.L414L|A1CF_ENST00000395489.2_Silent_p.L415L|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	422					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGTCATAGAGTTTGTCTT	0.507													G|||	531	0.10603	0.1498	0.0432	5008	,	,		16897	0.0883		0.0865	False		,,,				2504	0.1299				p.L430L		Atlas-SNP	.											.	A1CF	190	.	0			c.C1290T						PASS	.	G	,,,,,	561,3845	252.1+/-258.6	33,495,1675	156	154	155		1242,1290,1266,1242,1266,1266	5	1	10	dbSNP_127	155	646,7954	165.2+/-217.4	22,602,3676	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	A1CF	NM_001198818.1,NM_001198819.1,NM_001198820.1,NM_014576.3,NM_138932.2,NM_138933.2	,,,,,	55,1097,5351	AA,AG,GG		7.5116,12.7326,9.2803	,,,,,	414/587,430/603,422/595,414/587,422/595,422/595	52573698	1207,11799	2203	4300	6503	SO:0001819	synonymous_variant	29974	exon12			GTCATAGAGTTTG	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1266C>T	10.37:g.52573698G>A		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	190	134	0.705263	NM_001198819	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	CCDS7242.1																																																																																			G|0.908;A|0.092	0.092	strong		0.507	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52573698	G	A	52573698	2	1	23	1	0	0	0	0	0	0	0	1	2	929	33	2		2	A1CF	10	52573698	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	745764	52573698	82961049	2505	18961										
ANK3	288	hgsc.bcm.edu	37	chr10	61832626	61832626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaccatcttctctgggctGctgggcagactgggtgcctt	13	11	2	2	rs41274674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:61832626G>A	ENST00000280772.2	-	37	8204	c.8013C>T	c.(8011-8013)agC>agT	p.S2671S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2671					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCTGGGCTGCTGGGCAGAC	0.557													G|||	138	0.0275559	0.0537	0.0245	5008	,	,		18965	0.0		0.0378	False		,,,				2504	0.0123				p.S2671S		Atlas-SNP	.											.	ANK3	703	.	0			c.C8013T						PASS	.	G	,,,	277,4129	157.0+/-190.0	6,265,1932	89	80	83		,,,8013	5.8	1	10	dbSNP_127	83	350,8250	118.5+/-177.9	10,330,3960	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	16,595,5892	AA,AG,GG		4.0698,6.2869,4.8209	,,,	,,,2671/4378	61832626	627,12379	2203	4300	6503	SO:0001819	synonymous_variant	288	exon37			TGGGCTGCTGGGC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8013C>T	10.37:g.61832626G>A		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	153	120	0.784314	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																			G|0.957;A|0.043	0.043	strong		0.557	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61832626	G	A	61832626	2	1	23	1	0	0	0	0	0	0	0	1	622	1310	46	2		2	ANK3	10	61832626	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9258928	61832626	73702121	2506	18962										
RTKN2	219790	hgsc.bcm.edu	37	chr10	63977980	63977980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attaagaaatcctgcaaatgCatcctcagccatacaagctg	6	11	1	1	rs61850830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:63977980C>T	ENST00000373789.3	-	8	958	c.862G>A	c.(862-864)Gca>Aca	p.A288T	RTKN2_ENST00000395265.1_Missense_Mutation_p.A288T|RTKN2_ENST00000315289.2_Missense_Mutation_p.A69T	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	288	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCTGCAAATGCATCCTCAGCC	0.408													C|||	535	0.106829	0.0098	0.0735	5008	,	,		15862	0.0982		0.1034	False		,,,				2504	0.274				p.A288T		Atlas-SNP	.											.	RTKN2	68	.	0			c.G862A						PASS	.	C	THR/ALA	101,4305	81.4+/-119.9	2,97,2104	69	65	66		862	5.4	1	10	dbSNP_129	66	975,7625	212.5+/-252.8	67,841,3392	yes	missense	RTKN2	NM_145307.2	58	69,938,5496	TT,TC,CC		11.3372,2.2923,8.2731	benign	288/610	63977980	1076,11930	2203	4300	6503	SO:0001583	missense	219790	exon8			CAAATGCATCCTC	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.862G>A	10.37:g.63977980C>T	ENSP00000362894:p.Ala288Thr	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	42	5	0.119048	NM_145307	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1	160	0.07326007326007326	5	0.01016260162601626	25	0.06906077348066299	51	0.08916083916083917	79	0.10422163588390501	C	15.85	2.956169	0.53293	0.022923	0.113372	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.43294	0.95;1.54;1.54	5.42	5.42	0.78866	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.315023	0.39687	N	0.001297	T	0.00998	0.0033	L	0.44542	1.39	0.29024	P	0.886098	D;P	0.53462	0.96;0.822	P;B	0.52454	0.699;0.393	T	0.05162	-1.0902	9	0.19590	T	0.45	-6.1534	11.1113	0.48235	0.0:0.8823:0.0:0.1177	rs61850830	69;288	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	T	69;288;288	ENSP00000325379:A69T;ENSP00000378682:A288T;ENSP00000362894:A288T	ENSP00000325379:A69T	A	-	1	0	RTKN2	63647986	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.160000	0.42348	2.711000	0.92665	0.655000	0.94253	GCA	C|0.913;T|0.087	0.087	strong		0.408	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		T	63977980	C	T	63977980	3	4	23	1	0	0	0	0	1	0	0	0	13723	710	25	2	987	2	RTKN2	10	63977980	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2145354	63977980	71556767	2507	18963										
CTNNA3	29119	hgsc.bcm.edu	37	chr10	68535222	68535222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtctgcgaaggtctcttgTcttcttacacatgttgtcta	8	10	5	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:68535222T>C	ENST00000433211.2	-	8	1282	c.1108A>G	c.(1108-1110)Aca>Gca	p.T370A	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T370A	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGGTCTCTTGTCTTCTTACAC	0.378																																					p.T370A		Atlas-SNP	.											.	CTNNA3	401	.	0			c.A1108G						PASS	.						187	177	180					10																	68535222		2203	4300	6503	SO:0001583	missense	29119	exon8			CTCTTGTCTTCTT	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1108A>G	10.37:g.68535222T>C	ENSP00000389714:p.Thr370Ala	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	102	6	0.0588235	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731133	0.48939	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.40756	1.02;1.02	6.16	5.04	0.67666	.	0.092451	0.47093	D	0.000247	T	0.48607	0.1509	M	0.82716	2.605	0.80722	D	1	B;B	0.26744	0.158;0.006	B;B	0.33196	0.159;0.012	T	0.53287	-0.8460	10	0.52906	T	0.07	-22.6925	9.8846	0.41253	0.0:0.0786:0.0:0.9214	.	370;370	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	A	370	ENSP00000389714:T370A;ENSP00000362849:T370A	ENSP00000362849:T370A	T	-	1	0	CTNNA3	68205228	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.998000	0.63927	2.367000	0.80283	0.528000	0.53228	ACA	.	.	none		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		C	68535222	T	C	68535222	3	2	23	1	0	0	0	0	1	0	0	0	4014	1667	58	2	1623	2	CTNNA3	10	68535222	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4557242	68535222	66999525	2508	18964										
PBLD	64081	hgsc.bcm.edu	37	chr10	70066553	70066553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacagcagcaggattcccacGaaatgctcttgctgtgaatg	10	10	1	1	rs12359690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70066553G>A	ENST00000358769.2	-	2	251	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	PBLD_ENST00000495025.2_Missense_Mutation_p.R17C|PBLD_ENST00000309049.4_Missense_Mutation_p.R17C|PBLD_ENST00000432941.1_Missense_Mutation_p.R17C	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	17			R -> C (in dbSNP:rs12359690). {ECO:0000269|PubMed:15806103}.		biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGATTCCCACGAAATGCTCTT	0.383													G|||	117	0.0233626	0.0461	0.0245	5008	,	,		18502	0.0		0.0318	False		,,,				2504	0.0072				p.R17C		Atlas-SNP	.											.	PBLD	53	.	0			c.C49T						PASS	.	G	CYS/ARG,CYS/ARG	186,4220	119.6+/-157.3	6,174,2023	89	82	85		49,49	0.5	0.9	10	dbSNP_120	85	399,8201	127.2+/-185.5	8,383,3909	yes	missense,missense	PBLD	NM_001033083.1,NM_022129.3	180,180	14,557,5932	AA,AG,GG		4.6395,4.2215,4.4979	benign,benign	17/281,17/289	70066553	585,12421	2203	4300	6503	SO:0001583	missense	64081	exon2			TCCCACGAAATGC	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.49C>T	10.37:g.70066553G>A	ENSP00000351619:p.Arg17Cys	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	117	117	1	NM_022129	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	53	0.024267399267399268	25	0.0508130081300813	8	0.022099447513812154	0	0.0	20	0.026385224274406333	G	11.72	1.723233	0.30503	0.042215	0.046395	ENSG00000108187	ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.51	0.525	0.17072	.	0.445102	0.24249	N	0.040187	T	0.04363	0.0120	L	0.55017	1.72	0.21416	N	0.999695	B;B;B	0.16802	0.002;0.019;0.008	B;B;B	0.16289	0.001;0.015;0.007	T	0.11641	-1.0579	10	0.56958	D	0.05	0.3367	8.8276	0.35065	0.4705:0.0:0.5295:0.0	rs12359690;rs52804292;rs12359690	17;17;17	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	C	17	ENSP00000351619:R17C;ENSP00000308466:R17C;ENSP00000395534:R17C;ENSP00000277795:R17C	ENSP00000277795:R17C	R	-	1	0	PBLD	69736559	0.038000	0.19896	0.910000	0.35882	0.979000	0.70002	-0.107000	0.10873	-0.157000	0.11059	-1.002000	0.02502	CGT	G|0.961;A|0.039	0.039	strong		0.383	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		A	70066553	G	A	70066553	3	1	23	1	0	0	0	0	1	0	0	0	11489	1058	37	1	942	1	PBLD	10	70066553	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1531331	70066553	65468194	2509	18965										
RUFY2	55680	hgsc.bcm.edu	37	chr10	70143826	70143826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctctaggtgctgctgtgtTttcattaaaatcaatttatt	6	7	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70143826T>C	ENST00000602465.1	-	9	904	c.804A>G	c.(802-804)aaA>aaG	p.K268K	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Silent_p.K210K|RUFY2_ENST00000399200.2_Silent_p.K234K|RUFY2_ENST00000388768.2_Silent_p.K303K			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	317						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTGCTGTGTTTTCATTAAAA	0.323																																					p.K303K		Atlas-SNP	.											.	RUFY2	58	.	0			c.A909G						PASS	.						146	131	136					10																	70143826		1832	4084	5916	SO:0001819	synonymous_variant	55680	exon9			CTGTGTTTTCATT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.804A>G	10.37:g.70143826T>C		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_017987	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Silent	SNP	ENST00000602465.1	37																																																																																				.	.	none		0.323	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		C	70143826	T	C	70143826	2	2	23	1	0	0	0	0	0	0	0	1	13739	1838	64	2		2	RUFY2	10	70143826	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	77273	70143826	65390921	2510	18966										
DNA2	1763	hgsc.bcm.edu	37	chr10	70178965	70178965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaatatcagagggactgcaTccagcctaaatagaaaaaga	8	9	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70178965T>C	ENST00000358410.3	-	19	2843	c.2793A>G	c.(2791-2793)ggA>ggG	p.G931G	DNA2_ENST00000399179.2_Silent_p.G693G|DNA2_ENST00000399180.2_Silent_p.G1017G	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	931	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGGGACTGCATCCAGCCTAAA	0.323																																					p.G931G		Atlas-SNP	.											.	DNA2	76	.	0			c.A2793G						PASS	.						54	46	49					10																	70178965		1838	4091	5929	SO:0001819	synonymous_variant	1763	exon19			ACTGCATCCAGCC	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2793A>G	10.37:g.70178965T>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	38	19	0.5	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	T	8.699	0.909289	0.17833	.	.	ENSG00000138346	ENST00000440722	.	.	.	5.39	-0.794	0.10918	.	.	.	.	.	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	.	5.9261	0.19112	0.3798:0.0:0.2894:0.3308	.	.	.	.	V	253	.	.	M	-	1	0	DNA2	69848971	1.000000	0.71417	0.989000	0.46669	0.871000	0.50021	0.478000	0.22212	0.009000	0.14813	0.482000	0.46254	ATG	.	.	none		0.323	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			C	70178965	T	C	70178965	2	2	23	1	0	0	0	0	0	0	0	1	4596	1422	50	2		2	DNA2	10	70178965	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	35139	70178965	65355782	2511	18967										
CCAR1	55749	hgsc.bcm.edu	37	chr10	70513684	70513684	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgacttttttgatgctcaAtttacatgggtggatgcttt	10	5	1	2	rs5030887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70513684A>G	ENST00000265872.6	+	11	1313	c.1194A>G	c.(1192-1194)caA>caG	p.Q398Q	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000543719.1_Silent_p.Q383Q|CCAR1_ENST00000535016.1_Silent_p.Q383Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	398					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTGATGCTCAATTTACATGGG	0.368													G|||	504	0.100639	0.2912	0.0447	5008	,	,		17921	0.0317		0.003	False		,,,				2504	0.0542				p.Q398Q		Atlas-SNP	.											.	CCAR1	118	.	0			c.A1194G						PASS	.	G		1141,3265	714.8+/-408.4	159,823,1221	194	196	196		1194	5.1	1	10	dbSNP_113	196	62,8538	816.5+/-406.9	0,62,4238	no	coding-synonymous	CCAR1	NM_018237.2		159,885,5459	GG,GA,AA		0.7209,25.8965,9.2496		398/1151	70513684	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	55749	exon11			TGCTCAATTTACA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1194A>G	10.37:g.70513684A>G		Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	183	123	0.672131	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																			A|0.900;G|0.100	0.100	strong		0.368	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		G	70513684	A	G	70513684	2	3	23	1	0	0	0	0	0	0	0	1	2730	98	4	2		2	CCAR1	10	70513684	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	334719	70513684	65021063	2512	18968										
DDX50	79009	hgsc.bcm.edu	37	chr10	70700944	70700944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaatgtgcctcctgaaaggAaatatggtaggcttttccag	11	7	0	2	rs5030900	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70700944A>G	ENST00000373585.3	+	13	1991	c.1884A>G	c.(1882-1884)ggA>ggG	p.G628G	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	628						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCCTGAAAGGAAATATGGTAG	0.368													A|||	3285	0.65595	0.528	0.6326	5008	,	,		17918	0.9038		0.6412	False		,,,				2504	0.6053				p.G628G		Atlas-SNP	.											.	DDX50	65	.	0			c.A1884G						PASS	.	A		2412,1994	611.9+/-391.9	661,1090,452	66	69	68		1884	4.6	1	10	dbSNP_113	68	5553,3047	657.3+/-401.5	1795,1963,542	no	coding-synonymous	DDX50	NM_024045.1		2456,3053,994	GG,GA,AA		35.4302,45.2565,38.759		628/738	70700944	7965,5041	2203	4300	6503	SO:0001819	synonymous_variant	79009	exon13			GAAAGGAAATATG	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1884A>G	10.37:g.70700944A>G		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	97	71	0.731959	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	37	CCDS7283.1																																																																																			A|0.368;G|0.632	0.632	strong		0.368	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		G	70700944	A	G	70700944	2	3	23	1	0	0	0	0	0	0	0	1	4368	233	9	2		2	DDX50	10	70700944	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	187260	70700944	64833803	2513	18969										
KIAA1279	26128	hgsc.bcm.edu	37	chr10	70748784	70748784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcggcctgaggccgaggacGgcccgggtgccggtgaccac	18	14	0	2	rs2255607	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:70748784G>A	ENST00000361983.4	+	1	298	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	66			G -> S (in dbSNP:rs2255607). {ECO:0000269|PubMed:10574462}.		cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GGCCGAGGACGGCCCGGGTGC	0.701													G|||	1772	0.353834	0.329	0.3156	5008	,	,		14045	0.3562		0.4811	False		,,,				2504	0.2812				p.G66S		Atlas-SNP	.											.	KIAA1279	35	.	0			c.G196A						PASS	.	G	SER/GLY	1507,2899		265,977,961	30	37	35		196	-0.1	0	10	dbSNP_100	35	4153,4441		1010,2133,1154	no	missense	KIAA1279	NM_015634.3	56	1275,3110,2115	AA,AG,GG		48.3244,34.2034,43.5385	possibly-damaging	66/622	70748784	5660,7340	2203	4297	6500	SO:0001583	missense	26128	exon1			GAGGACGGCCCGG	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.196G>A	10.37:g.70748784G>A	ENSP00000354848:p.Gly66Ser	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	16	11	0.6875	NM_015634	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	CCDS7284.1	880	0.40293040293040294	168	0.34146341463414637	133	0.3674033149171271	221	0.38636363636363635	358	0.47229551451187335	G	1.857	-0.463542	0.04476	0.342034	0.483244	ENSG00000198954	ENST00000361983	T	0.41400	1.0	5.24	-0.111	0.13576	.	0.508915	0.22554	N	0.058552	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45293	-0.9271	9	0.08837	T	0.75	-22.3659	3.8437	0.08925	0.2493:0.0:0.4709:0.2798	rs2255607;rs57824932	66	Q96EK5	KBP_HUMAN	S	66	ENSP00000354848:G66S	ENSP00000354848:G66S	G	+	1	0	KIAA1279	70418790	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	0.211000	0.17474	-0.053000	0.13289	-0.158000	0.13435	GGC	G|0.584;A|0.416	0.416	strong		0.701	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		A	70748784	G	A	70748784	3	1	23	1	0	0	0	0	1	0	0	0	8221	1116	39	1	198	1	KIAA1279	10	70748784	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	47840	70748784	64785963	2514	18970										
HKDC1	80201	hgsc.bcm.edu	37	chr10	71010375	71010375	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacctttgggcttcacattCtcatttccctgcaggcagat	7	13	2	1	rs5030948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:71010375C>T	ENST00000354624.5	+	12	1936	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	HKDC1_ENST00000395086.2_Silent_p.F601F	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	601	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTTCACATTCTCATTTCCCT	0.557													C|||	689	0.13758	0.0136	0.1945	5008	,	,		19179	0.0794		0.2674	False		,,,				2504	0.1912				p.F601F		Atlas-SNP	.											HKDC1,NS,carcinoma,+1,1	HKDC1	98	1	0			c.C1803T						scavenged	.	C		226,4180	136.5+/-172.5	7,212,1984	109	110	109		1803	4.1	1	10	dbSNP_113	109	2080,6520	360.0+/-331.8	237,1606,2457	no	coding-synonymous	HKDC1	NM_025130.3		244,1818,4441	TT,TC,CC		24.186,5.1294,17.7303		601/918	71010375	2306,10700	2203	4300	6503	SO:0001819	synonymous_variant	80201	exon12			CACATTCTCATTT		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1803C>T	10.37:g.71010375C>T		Somatic	55	1	0.0181818		WXS	Illumina HiSeq	Phase_I	37	24	0.648649	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	CCDS7288.1																																																																																			C|0.835;T|0.165	0.165	strong		0.557	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		T	71010375	C	T	71010375	2	4	23	1	0	0	0	0	0	0	0	1	7193	912	32	2		2	HKDC1	10	71010375	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	261591	71010375	64524372	2515	18971										
C10orf35	219738	hgsc.bcm.edu	37	chr10	71391538	71391538	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggggaaatcgtgcaggaTgacgacccccgagtgaggac	15	9	0	2	rs1381932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:71391538T>C	ENST00000373279.4	+	3	198	c.39T>C	c.(37-39)gaT>gaC	p.D13D	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	13						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TCGTGCAGGATGACGACCCCC	0.602													T|||	973	0.194289	0.2821	0.1513	5008	,	,		17823	0.0407		0.2087	False		,,,				2504	0.2495				p.D13D		Atlas-SNP	.											.	C10orf35	22	.	0			c.T39C						PASS	.	T		1296,3110	428.7+/-342.0	200,896,1107	165	122	137		39	-5.1	1	10	dbSNP_88	137	1916,6684	335.1+/-321.3	216,1484,2600	no	coding-synonymous	C10orf35	NM_145306.2		416,2380,3707	CC,CT,TT		22.2791,29.4144,24.6963		13/122	71391538	3212,9794	2203	4300	6503	SO:0001819	synonymous_variant	219738	exon3			GCAGGATGACGAC	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.39T>C	10.37:g.71391538T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	68	47	0.691176	NM_145306		Silent	SNP	ENST00000373279.4	37	CCDS7295.1																																																																																			T|0.773;C|0.227	0.227	strong		0.602	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		C	71391538	T	C	71391538	2	2	23	1	0	0	0	0	0	0	0	1	1603	1461	51	2		2	C10orf35	10	71391538	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	381163	71391538	64143209	2516	18972										
KIAA1274	27143	hgsc.bcm.edu	37	chr10	72291172	72291172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagggccttggacccgggGtccgggtggagagcctggag	19	11	0	1	rs61737673	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:72291172G>A	ENST00000263563.6	+	5	863	c.595G>A	c.(595-597)Gtc>Atc	p.V199I		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	199						cytosol (GO:0005829)											TGGACCCGGGGTCCGGGTGGA	0.602													G|||	67	0.0133786	0.003	0.0216	5008	,	,		18858	0.0		0.0388	False		,,,				2504	0.0092				p.V199I		Atlas-SNP	.											.	.	.	.	0			c.G595A						PASS	.	G	ILE/VAL	38,4368	41.6+/-74.8	0,38,2165	64	58	60		595	1.1	0	10	dbSNP_129	60	276,8324	104.2+/-165.2	3,270,4027	yes	missense	KIAA1274	NM_014431.2	29	3,308,6192	AA,AG,GG		3.2093,0.8625,2.4143	benign	199/857	72291172	314,12692	2203	4300	6503	SO:0001583	missense	27143	exon5			CCCGGGGTCCGGG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.595G>A	10.37:g.72291172G>A	ENSP00000263563:p.Val199Ile	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	54	13	0.240741	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	33	0.01510989010989011	0	0.0	10	0.027624309392265192	0	0.0	23	0.030343007915567283	G	2.180	-0.387703	0.04932	0.008625	0.032093	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.21932	1.98	5.08	1.08	0.20341	.	0.896709	0.09766	N	0.758599	T	0.04588	0.0125	L	0.33753	1.03	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.37033	-0.9723	10	0.18710	T	0.47	-16.1671	6.6817	0.23123	0.2174:0.3405:0.442:0.0	rs61737673	199	Q9ULE6	PALD_HUMAN	I	199	ENSP00000263563:V199I	ENSP00000263563:V199I	V	+	1	0	KIAA1274	71961178	0.013000	0.17824	0.003000	0.11579	0.070000	0.16714	0.778000	0.26732	0.091000	0.17302	0.655000	0.94253	GTC	G|0.979;A|0.021	0.021	strong		0.602	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		A	72291172	G	A	72291172	3	1	23	1	0	0	0	0	1	0	0	0	8220	1261	44	2	609	2	KIAA1274	10	72291172	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	899634	72291172	63243575	2517	18973										
PRF1	5551	hgsc.bcm.edu	37	chr10	72360197	72360197	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgggctgcaaagttggcTgcctgtgagtgtgagccggc	16	9	1	2	rs116554195	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:72360197T>C	ENST00000441259.1	-	2	622	c.462A>G	c.(460-462)gcA>gcG	p.A154A	PRF1_ENST00000373209.2_Silent_p.A154A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	154	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CAAAGTTGGCTGCCTGTGAGT	0.612			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				T|||	76	0.0151757	0.0378	0.0086	5008	,	,		17805	0.0		0.0109	False		,,,				2504	0.0092				p.A154A		Atlas-SNP	.	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	.	PRF1	64	.	0			c.A462G						PASS	.	T	,	135,4271	95.7+/-134.4	1,133,2069	81	71	74		462,462	-8.4	0	10	dbSNP_132	74	71,8529	41.7+/-99.0	0,71,4229	no	coding-synonymous,coding-synonymous	PRF1	NM_001083116.1,NM_005041.4	,	1,204,6298	CC,CT,TT		0.8256,3.064,1.5839	,	154/556,154/556	72360197	206,12800	2203	4300	6503	SO:0001819	synonymous_variant	5551	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GTTGGCTGCCTGT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.462A>G	10.37:g.72360197T>C		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	126	92	0.730159	NM_001083116	B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	CCDS7305.1																																																																																			T|0.987;C|0.013	0.013	strong		0.612	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		C	72360197	T	C	72360197	2	2	23	1	0	0	0	0	0	0	0	1	12478	1567	55	3		3	PRF1	10	72360197	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	69025	72360197	63174550	2518	18974										
PRF1	5551	hgsc.bcm.edu	37	chr10	72360224	72360224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtgtgagccggccacagaCacatgcacattgctggtggg	15	10	0	2	rs115281140	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:72360224C>T	ENST00000441259.1	-	2	595	c.435G>A	c.(433-435)gtG>gtA	p.V145V	PRF1_ENST00000373209.2_Silent_p.V145V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	145	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGGCCACAGACACATGCACAT	0.612			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				C|||	64	0.0127796	0.0287	0.0086	5008	,	,		16983	0.0		0.0109	False		,,,				2504	0.0092				p.V145V		Atlas-SNP	.	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	PRF1,NS,carcinoma,-2,1	PRF1	64	1	0			c.G435A						scavenged	.	C	,	88,4318	73.6+/-111.7	1,86,2116	88	76	80		435,435	2.8	0	10	dbSNP_132	80	71,8529	41.7+/-99.0	0,71,4229	no	coding-synonymous,coding-synonymous	PRF1	NM_001083116.1,NM_005041.4	,	1,157,6345	TT,TC,CC		0.8256,1.9973,1.2225	,	145/556,145/556	72360224	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	5551	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CACAGACACATGC	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.435G>A	10.37:g.72360224C>T		Somatic	226	2	0.00884956		WXS	Illumina HiSeq	Phase_I	119	87	0.731092	NM_001083116	B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	CCDS7305.1																																																																																			C|0.990;T|0.010	0.010	strong		0.612	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		T	72360224	C	T	72360224	2	4	23	1	0	0	0	0	0	0	0	1	12478	465	17	2		2	PRF1	10	72360224	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27	72360224	63174523	2519	18975										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72513635	72513635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgggggatacagtgcctgCtgcccctctccaatggaacc	11	15	1	0	rs12774070	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:72513635C>A	ENST00000373207.1	+	19	2809	c.2809C>A	c.(2809-2811)Ctg>Atg	p.L937M	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.L940M	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	937	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.		L -> M (in dbSNP:rs12774070).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACAGTGCCTGCTGCCCCTCTC	0.682													C|||	802	0.160144	0.0159	0.2046	5008	,	,		16195	0.1637		0.2614	False		,,,				2504	0.2157				p.L940M		Atlas-SNP	.											ADAMTS14,NS,carcinoma,0,2	ADAMTS14	148	2	0			c.C2818A						PASS	.	C	MET/LEU,MET/LEU	265,4135		18,229,1953	20	15	17		2809,2818	3.7	1	10	dbSNP_121	17	2270,6322		287,1696,2313	yes	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	15,15	305,1925,4266	AA,AC,CC		26.4199,6.0227,19.512	probably-damaging,probably-damaging	937/1224,940/1227	72513635	2535,10457	2200	4296	6496	SO:0001583	missense	140766	exon19			TGCCTGCTGCCCC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2809C>A	10.37:g.72513635C>A	ENSP00000362303:p.Leu937Met	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	58	57	0.982759	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	368	0.1684981684981685	9	0.018292682926829267	60	0.16574585635359115	103	0.18006993006993008	196	0.25857519788918204	C	20.1	3.939861	0.73557	0.060227	0.264199	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61392	0.11;0.11	4.58	3.68	0.42216	.	0.083179	0.49305	D	0.000150	T	0.00039	0.0001	L	0.47016	1.485	0.31497	P	0.665223	D;D	0.64830	0.99;0.994	P;D	0.63033	0.871;0.91	T	0.04165	-1.0972	9	0.72032	D	0.01	.	12.4295	0.55565	0.0:0.9178:0.0:0.0822	rs12774070;rs12774070	937;940	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	M	940;937	ENSP00000362304:L940M;ENSP00000362303:L937M	ENSP00000362303:L937M	L	+	1	2	ADAMTS14	72183641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.839000	0.62810	1.159000	0.42565	0.563000	0.77884	CTG	A|0.174;C|0.826;G|0.000	0.174	strong		0.682	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72513635	C	A	72513635	3	1	23	1	0	0	0	0	1	0	0	0	259	796	28	4	2892	4	ADAMTS14	10	72513635	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	153411	72513635	63021112	2520	18976										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72520259	72520259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accctggcccagaccctggcCcaacctcactgccccccttc	6	23	1	1	rs61573157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:72520259C>T	ENST00000373207.1	+	22	3322	c.3322C>T	c.(3322-3324)Cca>Tca	p.P1108S	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1111S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1108	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						agaccctggcccaaccTCACT	0.637													C|||	332	0.0662939	0.0045	0.0548	5008	,	,		15195	0.0893		0.1123	False		,,,				2504	0.0869				p.P1111S		Atlas-SNP	.											.	ADAMTS14	148	.	0			c.C3331T						PASS	.	C	SER/PRO,SER/PRO	108,4298	82.9+/-121.4	1,106,2096	54	52	53		3322,3331	1.6	0	10	dbSNP_129	53	906,7694	201.8+/-245.2	45,816,3439	yes	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	74,74	46,922,5535	TT,TC,CC		10.5349,2.4512,7.7964	benign,benign	1108/1224,1111/1227	72520259	1014,11992	2203	4300	6503	SO:0001583	missense	140766	exon22			CCTGGCCCAACCT	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3322C>T	10.37:g.72520259C>T	ENSP00000362303:p.Pro1108Ser	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	35	27	0.771429	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	171	0.0782967032967033	4	0.008130081300813009	23	0.06353591160220995	57	0.09965034965034965	87	0.11477572559366754	C	0.453	-0.892934	0.02491	0.024512	0.105349	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60920	0.15;0.18	4.44	1.59	0.23543	.	0.741231	0.11005	N	0.610093	T	0.00754	0.0025	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.07462	-1.0771	9	0.31617	T	0.26	.	4.6654	0.12662	0.0:0.4233:0.1543:0.4224	rs61573157;rs61736606	1108;1111	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	S	1111;1108	ENSP00000362304:P1111S;ENSP00000362303:P1108S	ENSP00000362303:P1108S	P	+	1	0	ADAMTS14	72190265	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	-0.004000	0.12878	0.241000	0.21283	-0.812000	0.03155	CCA	C|0.925;T|0.075	0.075	strong		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72520259	C	T	72520259	3	4	23	1	0	0	0	0	1	0	0	0	259	623	22	2	3417	2	ADAMTS14	10	72520259	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6624	72520259	63014488	2521	18977										
SLC29A3	55315	hgsc.bcm.edu	37	chr10	73082563	73082563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagttcaaactccacctacAgaaccacaagcagcagtctc	5	15	2	1	rs2277257	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:73082563A>G	ENST00000373189.5	+	2	104	c.52A>G	c.(52-54)Aga>Gga	p.R18G	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	18			R -> G (in dbSNP:rs2277257). {ECO:0000269|PubMed:12975309}.		transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCCACCTACAGAACCACAAG	0.587													A|||	2350	0.469249	0.7005	0.3444	5008	,	,		19962	0.3601		0.4006	False		,,,				2504	0.4284				p.R18G	Esophageal Squamous(200;1319 2142 18949 31248 39672)	Atlas-SNP	.											.	SLC29A3	51	.	0			c.A52G						PASS	.	A	GLY/ARG,GLY/ARG	2802,1604	663.8+/-401.3	894,1014,295	128	129	129		52,52	1.2	0.4	10	dbSNP_100	129	3537,5063	515.4+/-378.6	725,2087,1488	yes	missense,missense	SLC29A3	NM_001174098.1,NM_018344.5	125,125	1619,3101,1783	GG,GA,AA		41.1279,36.4049,48.739	possibly-damaging,possibly-damaging	18/259,18/476	73082563	6339,6667	2203	4300	6503	SO:0001583	missense	55315	exon2			ACCTACAGAACCA	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.52A>G	10.37:g.73082563A>G	ENSP00000362285:p.Arg18Gly	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	104	77	0.740385	NM_018344	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	983	0.4500915750915751	334	0.6788617886178862	132	0.36464088397790057	219	0.38286713286713286	298	0.39313984168865435	A	6.233	0.411183	0.11812	0.635951	0.411279	ENSG00000198246	ENST00000373189	T	0.68331	-0.32	5.15	1.21	0.21127	.	0.644976	0.15117	N	0.279597	T	0.00012	0.0000	M	0.63428	1.95	0.26705	P	0.971088	B	0.06786	0.001	B	0.06405	0.002	T	0.41627	-0.9498	9	0.39692	T	0.17	-3.3134	7.3753	0.26825	0.5473:0.3726:0.0801:0.0	rs2277257;rs17629116;rs52808361;rs56776781;rs2277257	18	Q9BZD2	S29A3_HUMAN	G	18	ENSP00000362285:R18G	ENSP00000362285:R18G	R	+	1	2	SLC29A3	72752569	0.324000	0.24652	0.394000	0.26270	0.007000	0.05969	0.728000	0.26013	0.363000	0.24346	-0.321000	0.08615	AGA	A|0.527;G|0.473	0.473	strong		0.587	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		G	73082563	A	G	73082563	3	3	23	1	0	0	0	0	1	0	0	0	14536	180	7	3	58	3	SLC29A3	10	73082563	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	562304	73082563	62452184	2522	18978										
ANXA7	310	hgsc.bcm.edu	37	chr10	75139952	75139952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatactctggttctcatcaCgatttccctgcaaaagagaa	6	10	3	1	rs10159690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:75139952C>T	ENST00000372921.5	-	10	982	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ANXA7_ENST00000535178.1_Missense_Mutation_p.R179H|RP11-537A6.9_ENST00000427492.1_RNA	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	331					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GTTCTCATCACGATTTCCCTG	0.388																																					p.R331H		Atlas-SNP	.											ANXA7,colon,carcinoma,-1,1	ANXA7	50	1	0			c.G992A						scavenged	.						159	156	157					10																	75139952		2203	4300	6503	SO:0001583	missense	310	exon11			TCATCACGATTTC	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.926G>A	10.37:g.75139952C>T	ENSP00000362012:p.Arg309His	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	62	3	0.0483871	NM_004034	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416323	0.83449	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.17370	2.28;2.28;2.28	6.17	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	H	0.98178	4.165	0.51767	D	0.999933	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.998;0.997	T	0.68469	-0.5400	10	0.87932	D	0	.	10.012	0.41992	0.1369:0.7898:0.0:0.0733	rs10159690;rs10159690	309;309;236;309;331	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	H	309;331;179	ENSP00000362012:R309H;ENSP00000362010:R331H;ENSP00000442864:R179H	ENSP00000362010:R331H	R	-	2	0	ANXA7	74809958	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.762000	0.62250	1.575000	0.49775	0.655000	0.94253	CGT	C|0.994;T|0.006	0.006	strong		0.388	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		T	75139952	C	T	75139952	3	4	23	1	0	0	0	0	1	0	0	0	723	536	19	1	490	1	ANXA7	10	75139952	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2057389	75139952	60394795	2523	18979										
ZMYND17	118490	hgsc.bcm.edu	37	chr10	75184444	75184444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatagacctgttcaggtttgAgggacatgaaaggattagac	12	5	1	4	rs11591720	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:75184444A>G	ENST00000372912.1	-	6	1252	c.1250T>C	c.(1249-1251)cTc>cCc	p.L417P	MSS51_ENST00000299432.2_Missense_Mutation_p.L417P			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	417			L -> P (in dbSNP:rs11591720).		social behavior (GO:0035176)		metal ion binding (GO:0046872)										TTCAGGTTTGAGGGACATGAA	0.458													A|||	23	0.00459265	0.0008	0.0115	5008	,	,		18599	0.0		0.0129	False		,,,				2504	0.001				p.L417P		Atlas-SNP	.											ZMYND17,bladder,carcinoma,+1,1	.	.	1	0			c.T1250C						PASS	.	A	PRO/LEU	13,4393	20.2+/-43.8	0,13,2190	138	127	131		1250	4.5	1	10	dbSNP_120	131	156,8444	72.9+/-135.5	2,152,4146	yes	missense	ZMYND17	NM_001024593.1	98	2,165,6336	GG,GA,AA		1.814,0.2951,1.2994	probably-damaging	417/461	75184444	169,12837	2203	4300	6503	SO:0001583	missense	118490	exon7			GGTTTGAGGGACA	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1250T>C	10.37:g.75184444A>G	ENSP00000362003:p.Leu417Pro	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	129	34	0.263566	NM_001024593	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	18	0.008241758241758242	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	11	0.014511873350923483	A	19.63	3.863421	0.71949	0.002951	0.01814	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.51817	0.69;0.69	5.62	4.46	0.54185	.	0.222144	0.40222	N	0.001159	T	0.46639	0.1403	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.68483	0.958;0.831	T	0.58306	-0.7659	10	0.66056	D	0.02	-6.2465	11.1753	0.48595	0.846:0.154:0.0:0.0	rs11591720;rs52830361;rs11591720	196;417	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	P	417	ENSP00000299432:L417P;ENSP00000362003:L417P	ENSP00000299432:L417P	L	-	2	0	ZMYND17	74854450	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.685000	0.46959	0.924000	0.37069	0.455000	0.32223	CTC	A|0.989;G|0.011	0.011	strong		0.458	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		G	75184444	A	G	75184444	3	3	23	1	0	0	0	0	1	0	0	0	17706	304	11	3	136	3	ZMYND17	10	75184444	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	44492	75184444	60350303	2524	18980										
RPS24	6229	hgsc.bcm.edu	37	chr10	79814612	79814612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccccaccctgtggacggTgacttggtcctccacttgcc	9	17	1	1	rs2257155	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:79814612T>C	ENST00000440692.1	+	5	856	c.714T>C	c.(712-714)ggT>ggC	p.G238G	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			ctgtggacggtgacttggtcc	0.572													T|||	3	0.000599042	0.0	0.0014	5008	,	,		17704	0.0		0.002	False		,,,				2504	0.0				p.G238G		Atlas-SNP	.											.	RPS24	23	.	0			c.T714C						PASS	.	T		0,1384		0,0,692	105	103	104		714	-1.1	0	10	dbSNP_100	104	10,3172		0,10,1581	no	coding-synonymous	RPS24	NM_001142285.1		0,10,2273	CC,CT,TT		0.3143,0.0,0.219		238/290	79814612	10,4556	692	1591	2283	SO:0001819	synonymous_variant	6229	exon5			GGACGGTGACTTG	AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"S ribosomal proteins"	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.714T>C	10.37:g.79814612T>C		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	94	67	0.712766	NM_001142285	E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Silent	SNP	ENST00000440692.1	37	CCDS44443.1																																																																																			T|1.000;|0.000	.	weak		0.572	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026		C	79814612	T	C	79814612	2	2	23	1	0	0	0	0	0	0	0	1	13635	1683	59	2		2	RPS24	10	79814612	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4630168	79814612	55720135	2525	18981										
ANXA11	311	hgsc.bcm.edu	37	chr10	81917486	81917486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgctgcgagacaccatgaTgcgaatcagggtccggtcct	12	13	1	2	rs1802932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:81917486T>C	ENST00000438331.1	-	16	1851	c.1369A>G	c.(1369-1371)Atc>Gtc	p.I457V	ANXA11_ENST00000535999.1_Missense_Mutation_p.I457V|ANXA11_ENST00000360615.4_Missense_Mutation_p.I457V|ANXA11_ENST00000372231.3_Missense_Mutation_p.I457V|ANXA11_ENST00000422982.3_Missense_Mutation_p.I457V|ANXA11_ENST00000265447.4_Missense_Mutation_p.I457V|ANXA11_ENST00000537102.1_Missense_Mutation_p.I424V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	457			I -> V (in dbSNP:rs1802932).		cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GACACCATGATGCGAATCAGG	0.597													t|||	17	0.00339457	0.0	0.0029	5008	,	,		20944	0.0		0.0139	False		,,,				2504	0.001				p.I457V		Atlas-SNP	.											.	ANXA11	32	.	0			c.A1369G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE	13,4393	20.2+/-43.8	0,13,2190	127	110	116		1369,1369,1369	5.2	1	10	dbSNP_89	116	105,8495	57.5+/-118.9	1,103,4196	yes	missense,missense,missense	ANXA11	NM_001157.2,NM_145868.1,NM_145869.1	29,29,29	1,116,6386	CC,CT,TT		1.2209,0.2951,0.9073	benign,benign,benign	457/506,457/506,457/506	81917486	118,12888	2203	4300	6503	SO:0001583	missense	311	exon15			CCATGATGCGAAT	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1369A>G	10.37:g.81917486T>C	ENSP00000398610:p.Ile457Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	64	39	0.609375	NM_145868	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	15	0.006868131868131868	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	12	0.0158311345646438	T	13.99	2.402389	0.42613	0.002951	0.012209	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219	T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.17	5.17	0.71159	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.28192	0.835	0.50313	D	0.999865	B;B;B	0.33345	0.284;0.409;0.409	B;B;B	0.38225	0.103;0.268;0.268	T	0.45614	-0.9249	10	0.27082	T	0.32	.	13.2804	0.60210	0.0:0.0:0.0:1.0	rs1802932;rs1802932	557;457;457	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	V	457;457;457;457;457;457;457;364;424;104	ENSP00000361305:I457V;ENSP00000404412:I457V;ENSP00000398610:I457V;ENSP00000353827:I457V;ENSP00000265447:I457V;ENSP00000441748:I457V;ENSP00000441400:I424V	ENSP00000265447:I457V	I	-	1	0	ANXA11	81907466	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.665000	0.61547	2.082000	0.62665	0.460000	0.39030	ATC	T|0.992;C|0.008	0.008	strong		0.597	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		C	81917486	T	C	81917486	3	2	23	1	0	0	0	0	1	0	0	0	716	1464	51	2	156	2	ANXA11	10	81917486	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2102874	81917486	53617261	2526	18982										
DYDC2	84332	hgsc.bcm.edu	37	chr10	82126541	82126541	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgaagcaggaattcctgcCaggtacttccagtctgattc	9	11	1	2	rs36027713	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:82126541C>G	ENST00000372199.1	+	6	966	c.368C>G	c.(367-369)cCa>cGa	p.P123R	DYDC2_ENST00000372197.1_Missense_Mutation_p.P123R|DYDC2_ENST00000372198.1_Missense_Mutation_p.P137R|DYDC2_ENST00000256039.2_Missense_Mutation_p.P123R|DYDC2_ENST00000444807.2_Missense_Mutation_p.P123R			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAATTCCTGCCAGGTACTTCC	0.468													C|||	43	0.00858626	0.0	0.0144	5008	,	,		18616	0.0		0.0308	False		,,,				2504	0.002				p.P137R		Atlas-SNP	.											DYDC2,NS,carcinoma,+1,1	DYDC2	18	1	0			c.C410G						PASS	.	C	ARG/PRO	24,4382	31.7+/-61.6	0,24,2179	108	111	110		368	3.8	0	10	dbSNP_126	110	215,8385	90.4+/-152.6	2,211,4087	yes	missense	DYDC2	NM_032372.4	103	2,235,6266	GG,GC,CC		2.5,0.5447,1.8376	possibly-damaging	123/178	82126541	239,12767	2203	4300	6503	SO:0001583	missense	84332	exon4			TCCTGCCAGGTAC	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.368C>G	10.37:g.82126541C>G	ENSP00000361273:p.Pro123Arg	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	77	55	0.714286	NM_001270042	D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	CCDS7367.1	31	0.014194139194139194	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	25	0.032981530343007916	C	14.26	2.481710	0.44147	0.005447	0.025	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	T;T;T;T;T	0.67698	-0.17;-0.28;-0.17;-0.17;-0.17	4.68	3.77	0.43336	.	0.122835	0.37623	N	0.002007	T	0.26629	0.0651	L	0.32530	0.975	0.09310	N	1	B	0.34329	0.449	B	0.26864	0.074	T	0.38394	-0.9663	10	0.54805	T	0.06	-9.1269	10.9297	0.47211	0.0:0.7898:0.2102:0.0	rs36027713;rs61859208	123	Q96IM9	DYDC2_HUMAN	R	123;137;123;123;123;123	ENSP00000361273:P123R;ENSP00000361272:P137R;ENSP00000361271:P123R;ENSP00000410285:P123R;ENSP00000256039:P123R	ENSP00000256039:P123R	P	+	2	0	DYDC2	82116521	0.006000	0.16342	0.014000	0.15608	0.001000	0.01503	1.492000	0.35594	1.558000	0.49541	-0.211000	0.12701	CCA	C|0.982;G|0.018	0.018	strong		0.468	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		G	82126541	C	G	82126541	3	3	23	1	0	0	0	0	1	0	0	0	4839	594	21	4	378	4	DYDC2	10	82126541	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	209055	82126541	53408206	2527	18983										
SH2D4B	387694	hgsc.bcm.edu	37	chr10	82363340	82363340	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcctctttccagtgcgcCggtccaaggcggctgatgag	12	13	2	2	rs7069048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:82363340C>A	ENST00000470604.2	+	5	646	c.646C>A	c.(646-648)Cgg>Agg	p.R216R	SH2D4B_ENST00000339284.2_Silent_p.R217R|SH2D4B_ENST00000313455.4_Silent_p.R168R			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	216	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TCCAGTGCGCCGGTCCAAGGC	0.642													C|||	1874	0.374201	0.5151	0.2536	5008	,	,		16741	0.5149		0.2386	False		,,,				2504	0.2638				p.R217R		Atlas-SNP	.											SH2D4B,NS,carcinoma,-1,2	SH2D4B	44	2	0			c.C649A						PASS	.	C	,	1991,2337		485,1021,658	12	14	13		502,649	0.5	0.2	10	dbSNP_116	13	2087,6401		274,1539,2431	no	coding-synonymous,coding-synonymous	SH2D4B	NM_001145719.1,NM_207372.2	,	759,2560,3089	AA,AC,CC		24.5877,46.0028,31.8196	,	168/310,217/358	82363340	4078,8738	2164	4244	6408	SO:0001819	synonymous_variant	387694	exon5			GTGCGCCGGTCCA		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.646C>A	10.37:g.82363340C>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	76	15	0.197368	NM_207372	Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37																																																																																				C|0.624;A|0.376	0.376	strong		0.642	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		A	82363340	C	A	82363340	2	1	23	1	0	0	0	0	0	0	0	1	14236	643	23	4		4	SH2D4B	10	82363340	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	236799	82363340	53171407	2528	18984										
SH2D4B	387694	hgsc.bcm.edu	37	chr10	82363404	82363404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcccgggacgagtaccgacAccactcgctccgtgctatcc	10	18	0	0	rs7075840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:82363404A>G	ENST00000470604.2	+	5	710	c.710A>G	c.(709-711)cAc>cGc	p.H237R	SH2D4B_ENST00000339284.2_Missense_Mutation_p.H238R|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H189R			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	237			H -> R (in dbSNP:rs7075840).							endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAGTACCGACACCACTCGCTC	0.652													G|||	1806	0.360623	0.4592	0.255	5008	,	,		16244	0.5188		0.2386	False		,,,				2504	0.2648				p.H238R		Atlas-SNP	.											SH2D4B,NS,carcinoma,0,1	SH2D4B	44	1	0			c.A713G						PASS	.	G	ARG/HIS,ARG/HIS	1903,2493		428,1047,723	23	25	24		566,713	6	1	10	dbSNP_116	24	2206,6388		278,1650,2369	no	missense,missense	SH2D4B	NM_001145719.1,NM_207372.2	29,29	706,2697,3092	GG,GA,AA		25.6691,43.2894,31.632	benign,benign	189/310,238/358	82363404	4109,8881	2198	4297	6495	SO:0001583	missense	387694	exon5			ACCGACACCACTC		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.710A>G	10.37:g.82363404A>G	ENSP00000417953:p.His237Arg	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	98	20	0.204082	NM_207372	Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37		799	0.3658424908424908	208	0.42276422764227645	102	0.281767955801105	305	0.5332167832167832	184	0.24274406332453827	G	9.692	1.152045	0.21371	0.432894	0.256691	ENSG00000178217	ENST00000339284;ENST00000470604;ENST00000313455	T;T;T	0.04454	3.62;3.62;3.62	6.02	6.02	0.97574	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00030	-2.605	0.54753	P	1.4999999999987246E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40720	-0.9548	9	0.02654	T	1	-16.2888	13.3408	0.60542	0.0757:0.0:0.9243:0.0	rs7075840;rs7075840	189;238	Q5SQS7-3;Q5SQS7-2	.;.	R	238;237;189	ENSP00000345295:H238R;ENSP00000417953:H237R;ENSP00000314242:H189R	ENSP00000314242:H189R	H	+	2	0	SH2D4B	82353384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.429000	0.59901	1.579000	0.49836	-0.119000	0.15052	CAC	A|0.661;G|0.339	0.339	strong		0.652	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		G	82363404	A	G	82363404	3	3	23	1	0	0	0	0	1	0	0	0	14236	159	6	2	772	2	SH2D4B	10	82363404	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	64	82363404	53171343	2529	18985										
RGR	5995	hgsc.bcm.edu	37	chr10	86012713	86012713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttctgggttggggtcactaCgactatgagccactggggac	14	10	2	1	rs1042454	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:86012713C>T	ENST00000359452.4	+	4	509	c.471C>T	c.(469-471)taC>taT	p.Y157Y	RGR_ENST00000358110.5_Silent_p.Y153Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	153					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.Y157Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GGGGTCACTACGACTATGAGC	0.602													T|||	2520	0.503195	0.8548	0.4841	5008	,	,		16744	0.3313		0.3588	False		,,,				2504	0.3671				p.Y157Y	NSCLC(15;204 545 5889 6385 32445)	Atlas-SNP	.											RGR,NS,adenoma,0,2	RGR	42	2	1	Substitution - coding silent(1)	stomach(1)	c.C471T						scavenged	.	T	,,	3437,969	364.1+/-316.8	1366,705,132	92	71	78		459,459,471	2.6	1	10	dbSNP_86	78	3133,5467	656.7+/-401.4	552,2029,1719	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	1918,2734,1851	TT,TC,CC		36.4302,21.9927,49.4849	,,	153/292,153/254,157/296	86012713	6570,6436	2203	4300	6503	SO:0001819	synonymous_variant	5995	exon4			TCACTACGACTAT	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.471C>T	10.37:g.86012713C>T		Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	61	15	0.245902	NM_002921	A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	CCDS7374.1																																																																																			C|0.502;T|0.498	0.498	strong		0.602	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		T	86012713	C	T	86012713	2	4	23	1	0	0	0	0	0	0	0	1	13291	547	19	1		1	RGR	10	86012713	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3649309	86012713	49522034	2530	18986										
OPN4	94233	hgsc.bcm.edu	37	chr10	88422028	88422028	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtggccattgcccagcacCtgccctgcctgggggtgctg	16	14	0	0	rs34191521	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:88422028C>G	ENST00000241891.5	+	8	1260	c.1093C>G	c.(1093-1095)Ctg>Gtg	p.L365V	OPN4_ENST00000372071.2_Missense_Mutation_p.L376V	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	365					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TGCCCAGCACCTGCCCTGCCT	0.677													C|||	197	0.0393371	0.003	0.1556	5008	,	,		18411	0.001		0.0298	False		,,,				2504	0.0552				p.L376V		Atlas-SNP	.											.	OPN4	61	.	0			c.C1126G						PASS	.	C	VAL/LEU,VAL/LEU	25,4381		0,25,2178	26	22	23		1126,1093	-0.4	1	10	dbSNP_126	23	221,8377		2,217,4080	yes	missense,missense	OPN4	NM_001030015.2,NM_033282.3	32,32	2,242,6258	GG,GC,CC		2.5704,0.5674,1.8917	benign,benign	376/490,365/479	88422028	246,12758	2203	4299	6502	SO:0001583	missense	94233	exon9			CAGCACCTGCCCT	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1093C>G	10.37:g.88422028C>G	ENSP00000241891:p.Leu365Val	Somatic	165	1	0.00606061		WXS	Illumina HiSeq	Phase_I	107	84	0.785047	NM_001030015	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	76	0.0347985347985348	3	0.006097560975609756	49	0.13535911602209943	1	0.0017482517482517483	23	0.030343007915567283	C	2.901	-0.227540	0.06022	0.005674	0.025704	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.48836	0.8;0.8;0.8	5.39	-0.368	0.12537	.	0.337294	0.22598	N	0.057994	T	0.00210	0.0006	L	0.39566	1.225	0.34048	D	0.655787	B;B;B	0.22800	0.031;0.016;0.075	B;B;B	0.29440	0.034;0.019;0.102	T	0.14364	-1.0475	10	0.02654	T	1	.	1.4865	0.02447	0.191:0.3918:0.1123:0.3048	rs34191521	376;365;376	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	V	376;365;376	ENSP00000361141:L376V;ENSP00000241891:L365V;ENSP00000393132:L376V	ENSP00000241891:L365V	L	+	1	2	OPN4	88412008	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.953000	0.29162	0.249000	0.21456	0.655000	0.94253	CTG	C|0.977;G|0.023	0.023	strong		0.677	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		G	88422028	C	G	88422028	3	3	23	1	0	0	0	0	1	0	0	0	10882	680	24	4	1160	4	OPN4	10	88422028	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2409315	88422028	47112719	2531	18987										
BMPR1A	657	hgsc.bcm.edu	37	chr10	88635779	88635779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacattacaattgaacaatgCctcagctatacatttacatc	3	10	1	1	rs11528010	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:88635779C>A	ENST00000372037.3	+	3	541	c.4C>A	c.(4-6)Cct>Act	p.P2T	BMPR1A_ENST00000480152.1_3'UTR	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	2			P -> T (in dbSNP:rs11528010). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8397373}.		BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTGAACAATGCCTCAGCTATA	0.328			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				A|||	2503	0.4998	0.7239	0.3617	5008	,	,		19725	0.7093		0.2753	False		,,,				2504	0.3098				p.P2T	Ovarian(190;603 2086 22044 30335 47971)	Atlas-SNP	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	.	BMPR1A	118	.	0			c.C4A						PASS	.	A	THR/PRO	2863,1543	485.5+/-360.3	941,981,281	197	195	196		4	5.3	1	10	dbSNP_120	196	2203,6397	709.9+/-405.7	280,1643,2377	no	missense	BMPR1A	NM_004329.2	38	1221,2624,2658	AA,AC,CC		25.6163,35.0204,38.9513	benign	2/533	88635779	5066,7940	2203	4300	6503	SO:0001583	missense	657	exon3	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	ACAATGCCTCAGC	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.4C>A	10.37:g.88635779C>A	ENSP00000361107:p.Pro2Thr	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	162	116	0.716049	NM_004329	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	987	0.4519230769230769	292	0.5934959349593496	117	0.32320441988950277	391	0.6835664335664335	187	0.24670184696569922	A	1.311	-0.602108	0.03744	0.649796	0.256163	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.81499	-1.5	5.3	5.3	0.74995	.	0.301588	0.34200	N	0.004161	T	0.00012	0.0000	N	0.02539	-0.55	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.41016	-0.9532	9	0.02654	T	1	.	11.256	0.49054	0.8467:0.1533:0.0:0.0	rs11528010	2	P36894	BMR1A_HUMAN	T	2	ENSP00000361107:P2T	ENSP00000224764:P2T	P	+	1	0	BMPR1A	88625759	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	3.768000	0.55295	0.956000	0.37904	-0.374000	0.07098	CCT	.	.	weak		0.328	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		A	88635779	C	A	88635779	3	1	23	1	0	0	0	0	1	0	0	0	1469	739	26	4	6	4	BMPR1A	10	88635779	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	213751	88635779	46898968	2532	18988										
AGAP11	119385	hgsc.bcm.edu	37	chr10	88768423	88768423	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgggaaatggctgaagacAtggaaaaagaaatatgtcac	12	4	1	3	rs2641562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:88768423A>G	ENST00000444431.1	+	0	3023				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GGCTGAAGACATGGAAAAAGA	0.453													A|||	2007	0.400759	0.2073	0.2723	5008	,	,		21664	0.6925		0.4513	False		,,,				2504	0.4008				p.T138T		Atlas-SNP	.											.	.	.	.	0			c.A414G						PASS	.	A		1098,3280		149,800,1240	153	169	164		414	0.1	0.2	10	dbSNP_100	164	3521,5039		712,2097,1471	no	coding-synonymous	AGAP11	NM_133447.1		861,2897,2711	GG,GA,AA		41.1332,25.0799,35.701		138/551	88768423	4619,8319	2189	4280	6469			119385	exon12			GAAGACATGGAAA			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768423A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	93	73	0.784946	NM_133447	B9EIP7|D3DWE4	Silent	SNP	ENST00000444431.1	37																																																																																				A|0.567;G|0.433	0.433	strong		0.453	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		G	88768423	A	G	88768423	1	3	23	0	1	0	0	0	0	0	0	0	367	204	8	2		2	AGAP11	10	88768423	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	132644	88768423	46766324	2533	18989										
FAM22A	728118	hgsc.bcm.edu	37	chr10	88988232	88988232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcggcccgagtggggccGgggcttccaacgtctttgtc	16	13	1	0	rs200425300	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:88988232G>A	ENST00000381707.2	+	2	978	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	NUTM2A_ENST00000381689.4_Missense_Mutation_p.G199R|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	199																	GAGTGGGGCCGGGGCTTCCAA	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		22613	0.0		0.0	False		,,,				2504	0.002				p.G199R		Atlas-SNP	.											FAM22D,NS,carcinoma,-1,2	FAM22A	20	2	0			c.G595A						scavenged	.						27	31	30					10																	88988232		1156	2974	4130	SO:0001583	missense	728118	exon2			GGGGCCGGGGCTT		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"family with sequence similarity 22, member A"	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.595G>A	10.37:g.88988232G>A	ENSP00000371126:p.Gly199Arg	Somatic	457	2	0.00437637		WXS	Illumina HiSeq	Phase_I	360	3	0.00833333	NM_001099338	A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	9.139	1.013331	0.19277	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.27402	1.67;1.67	1.29	1.29	0.21616	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.25306	0.0615	M	0.72118	2.19	0.09310	N	1	P	0.40083	0.702	B	0.28638	0.092	T	0.27020	-1.0086	9	0.72032	D	0.01	.	6.1361	0.20233	0.0:0.0:1.0:0.0	.	199	Q8IVF1	FA22A_HUMAN	R	199;199;126	ENSP00000371107:G199R;ENSP00000371126:G199R	ENSP00000371107:G199R	G	+	1	0	FAM22A	88978212	0.085000	0.21516	0.005000	0.12908	0.003000	0.03518	0.617000	0.24359	1.081000	0.41110	0.374000	0.22700	GGG	G|0.996;A|0.004	0.004	strong		0.657	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		A	88988232	G	A	88988232	3	1	23	1	0	0	0	0	1	0	0	0	5543	1116	39	1	601	1	FAM22A	10	88988232	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	219809	88988232	46546515	2534	18990										
LIPF	8513	hgsc.bcm.edu	37	chr10	90429652	90429652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgacttcattgtaaagaaaActggacagaagcagctacac	8	9	1	2	rs814628	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:90429652A>G	ENST00000238983.4	+	5	527	c.481A>G	c.(481-483)Act>Gct	p.T161A	LIPF_ENST00000608620.1_Missense_Mutation_p.T128A|LIPF_ENST00000355843.2_Missense_Mutation_p.T138A|LIPF_ENST00000394375.3_Missense_Mutation_p.T171A	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	161			T -> A (in dbSNP:rs814628). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TGTAAAGAAAACTGGACAGAA	0.403													A|||	841	0.167931	0.0098	0.2046	5008	,	,		22220	0.3056		0.174	False		,,,				2504	0.2076				p.T171A		Atlas-SNP	.											.	LIPF	62	.	0			c.A511G						PASS	.	A	ALA/THR,ALA/THR,ALA/THR,ALA/THR	199,4207	124.5+/-161.8	2,195,2006	217	202	207		382,511,412,481	5.2	1	10	dbSNP_86	207	1510,7090	286.1+/-297.5	158,1194,2948	yes	missense,missense,missense,missense	LIPF	NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3	58,58,58,58	160,1389,4954	GG,GA,AA		17.5581,4.5166,13.1401	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	128/366,171/409,138/376,161/399	90429652	1709,11297	2203	4300	6503	SO:0001583	missense	8513	exon6			AAGAAAACTGGAC	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.481A>G	10.37:g.90429652A>G	ENSP00000238983:p.Thr161Ala	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	93	72	0.774194	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	371	0.16987179487179488	4	0.008130081300813009	59	0.16298342541436464	175	0.30594405594405594	133	0.17546174142480211	A	18.63	3.665012	0.67700	0.045166	0.175581	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.61980	0.06;0.06;0.06	5.24	5.24	0.73138	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000024	T	0.00012	0.0000	H	0.96333	3.805	0.18873	P	0.9999861833	D;D;D;D	0.65815	0.994;0.993;0.994;0.995	P;P;D;D	0.67900	0.896;0.881;0.954;0.927	T	0.00883	-1.1528	9	0.87932	D	0	-32.3374	14.2637	0.66102	1.0:0.0:0.0:0.0	rs814628;rs1214455;rs17287058;rs52818200;rs57331422;rs814628	128;171;138;161	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	A	171;161;128	ENSP00000377900:T171A;ENSP00000238983:T161A;ENSP00000348101:T128A	ENSP00000238983:T161A	T	+	1	0	LIPF	90419632	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	8.620000	0.90943	2.194000	0.70268	0.528000	0.53228	ACT	A|0.851;G|0.149	0.149	strong		0.403	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			G	90429652	A	G	90429652	3	3	23	1	0	0	0	0	1	0	0	0	8822	43	2	2	495	2	LIPF	10	90429652	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1441420	90429652	45105095	2535	18991										
LIPF	8513	hgsc.bcm.edu	37	chr10	90438207	90438207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttgtgttttctagtcccaAcctccctactacaatgtgac	5	13	2	1	rs1228187	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:90438207A>G	ENST00000238983.4	+	10	1012	c.966A>G	c.(964-966)caA>caG	p.Q322Q	LIPF_ENST00000608620.1_Silent_p.Q289Q|LIPF_ENST00000355843.2_Silent_p.Q299Q|LIPF_ENST00000394375.3_Silent_p.Q332Q	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	322					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TCTAGTCCCAACCTCCCTACT	0.448													A|||	1144	0.228435	0.1248	0.3069	5008	,	,		19364	0.3274		0.2107	False		,,,				2504	0.229				p.Q332Q		Atlas-SNP	.											.	LIPF	62	.	0			c.A996G						PASS	.	A	,,,	618,3788	268.9+/-268.7	43,532,1628	186	170	175		867,996,897,966	-9.7	0	10	dbSNP_87	175	1777,6823	321.5+/-315.1	196,1385,2719	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LIPF	NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3	,,,	239,1917,4347	GG,GA,AA		20.6628,14.0263,18.4146	,,,	289/366,332/409,299/376,322/399	90438207	2395,10611	2203	4300	6503	SO:0001819	synonymous_variant	8513	exon11			GTCCCAACCTCCC	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.966A>G	10.37:g.90438207A>G		Somatic	189	1	0.00529101		WXS	Illumina HiSeq	Phase_I	113	73	0.646018	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	CCDS7389.1																																																																																			A|0.799;G|0.201	0.201	strong		0.448	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			G	90438207	A	G	90438207	2	3	23	1	0	0	0	0	0	0	0	1	8822	40	2	2		2	LIPF	10	90438207	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	8555	90438207	45096540	2536	18992										
LIPK	643414	hgsc.bcm.edu	37	chr10	90512306	90512306	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatacaacattactaagatGgaagttccaacagcaatatg	6	7	0	1	rs1214464	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:90512306G>C	ENST00000404190.1	+	9	993	c.993G>C	c.(991-993)atG>atC	p.M331I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	331			M -> I (in dbSNP:rs1214464).		lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTACTAAGATGGAAGTTCCAA	0.323													G|||	927	0.185104	0.0068	0.2781	5008	,	,		18940	0.2877		0.2097	False		,,,				2504	0.229				p.M331I		Atlas-SNP	.											.	LIPK	50	.	0			c.G993C						PASS	.	G	ILE/MET	181,3549		7,167,1691	39	36	37		993	3.7	1	10	dbSNP_87	37	1687,6529		201,1285,2622	yes	missense	LIPK	NM_001080518.1	10	208,1452,4313	CC,CG,GG		20.5331,4.8525,15.637	possibly-damaging	331/400	90512306	1868,10078	1865	4108	5973	SO:0001583	missense	643414	exon9			TAAGATGGAAGTT		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.993G>C	10.37:g.90512306G>C	ENSP00000383900:p.Met331Ile	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	39	36	0.923077	NM_001080518	A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	CCDS44455.1	404	0.184981684981685	4	0.008130081300813009	79	0.21823204419889503	168	0.2937062937062937	153	0.20184696569920843	G	14.84	2.655169	0.47467	0.048525	0.205331	ENSG00000204021	ENST00000404190	T	0.62498	0.02	5.65	3.69	0.42338	Alpha/beta hydrolase fold-1 (1);	0.373592	0.26991	N	0.021464	T	0.00012	0.0000	N	0.12920	0.275	0.30831	P	0.7366900000000001	B	0.30281	0.275	B	0.35899	0.213	T	0.11665	-1.0578	9	0.09590	T	0.72	-12.5189	10.4283	0.44391	0.0:0.1445:0.7055:0.15	rs1214464;rs56611384;rs1214464	331	Q5VXJ0	LIPK_HUMAN	I	331	ENSP00000383900:M331I	ENSP00000383900:M331I	M	+	3	0	LIPK	90502286	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	2.593000	0.46180	1.583000	0.49898	0.655000	0.94253	ATG	G|0.809;C|0.191	0.191	strong		0.323	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		C	90512306	G	C	90512306	3	2	23	1	0	0	0	0	1	0	0	0	8827	1348	47	4	1027	4	LIPK	10	90512306	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	74099	90512306	45022441	2537	18993										
CH25H	9023	hgsc.bcm.edu	37	chr10	90966546	90966546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatatactgcgttgccagCgcgaacgaggacgagttctg	12	11	2	0	rs4078488	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:90966546C>T	ENST00000371852.2	-	1	525	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	168					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GCGTTGCCAGCGCGAACGAGG	0.577													C|||	1388	0.277157	0.0083	0.2579	5008	,	,		23251	0.7351		0.1332	False		,,,				2504	0.3303				p.A168A		Atlas-SNP	.											CH25H,NS,carcinoma,-1,1	CH25H	19	1	0			c.G504A						PASS	.	C		113,4293	86.8+/-125.4	5,103,2095	144	136	139		504	-0.9	1	10	dbSNP_108	139	975,7625	211.8+/-252.3	54,867,3379	no	coding-synonymous	CH25H	NM_003956.3		59,970,5474	TT,TC,CC		11.3372,2.5647,8.3654		168/273	90966546	1088,11918	2203	4300	6503	SO:0001819	synonymous_variant	9023	exon1			TGCCAGCGCGAAC	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.504G>A	10.37:g.90966546C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	92	19	0.206522	NM_003956	B2RBY3	Silent	SNP	ENST00000371852.2	37	CCDS7400.1																																																																																			C|0.850;T|0.150	0.150	strong		0.577	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		T	90966546	C	T	90966546	2	4	23	1	0	0	0	0	0	0	0	1	3307	755	27	1		1	CH25H	10	90966546	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	454240	90966546	44568201	2538	18994										
CH25H	9023	hgsc.bcm.edu	37	chr10	90966996	90966996	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccagaggggctgcaggaaCagctgcccggagctgcaaag	15	12	0	1	rs10887932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:90966996C>G	ENST00000371852.2	-	1	75	c.54G>C	c.(52-54)ctG>ctC	p.L18L		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	18					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GCTGCAGGAACAGCTGCCCGG	0.622													C|||	1404	0.280351	0.0083	0.2637	5008	,	,		19159	0.7371		0.1392	False		,,,				2504	0.3344				p.L18L		Atlas-SNP	.											.	CH25H	19	.	0			c.G54C						PASS	.	C		121,4283		6,109,2087	18	22	20		54	-2.1	0.2	10	dbSNP_120	20	1020,7578		63,894,3342	no	coding-synonymous	CH25H	NM_003956.3		69,1003,5429	GG,GC,CC		11.8632,2.7475,8.7756		18/273	90966996	1141,11861	2202	4299	6501	SO:0001819	synonymous_variant	9023	exon1			CAGGAACAGCTGC	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.54G>C	10.37:g.90966996C>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	80	21	0.2625	NM_003956	B2RBY3	Silent	SNP	ENST00000371852.2	37	CCDS7400.1																																																																																			C|0.834;G|0.166	0.166	strong		0.622	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		G	90966996	C	G	90966996	2	3	23	1	0	0	0	0	0	0	0	1	3307	465	17	4		4	CH25H	10	90966996	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	450	90966996	44567751	2539	18995										
LIPA	3988	hgsc.bcm.edu	37	chr10	91007360	91007360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacccctcagaatgcagggTccagagaaccaaacagacca	9	13	1	4	rs1051338	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:91007360T>G	ENST00000336233.5	-	2	368	c.46A>C	c.(46-48)Acc>Ccc	p.T16P	LIPA_ENST00000456827.1_Missense_Mutation_p.T16P|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	16			T -> P (in dbSNP:rs1051338). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1718995}.		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GAATGCAGGGTCCAGAGAACC	0.373													T|||	1433	0.286142	0.1082	0.3545	5008	,	,		11907	0.3085		0.327	False		,,,				2504	0.4131				p.T16P		Atlas-SNP	.											.	LIPA	29	.	0			c.A46C						PASS	.	T	PRO/THR,PRO/THR	568,3838	254.6+/-260.1	41,486,1676	109	106	107		46,46	3.7	1	10	dbSNP_86	107	2566,6034	416.2+/-352.0	393,1780,2127	yes	missense,missense	LIPA	NM_000235.2,NM_001127605.1	38,38	434,2266,3803	GG,GT,TT		29.8372,12.8915,24.0966	benign,benign	16/400,16/400	91007360	3134,9872	2203	4300	6503	SO:0001583	missense	3988	exon2			GCAGGGTCCAGAG	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.46A>C	10.37:g.91007360T>G	ENSP00000337354:p.Thr16Pro	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	36	23	0.638889	NM_000235	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	CCDS7401.1	599	0.2742673992673993	54	0.10975609756097561	118	0.3259668508287293	166	0.2902097902097902	261	0.34432717678100266	T	11.49	1.652821	0.29336	0.128915	0.298372	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77750	-0.51;-0.51;-0.39;-1.12	4.93	3.72	0.42706	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.47153	P	6.650000000000267E-4	B	0.09022	0.002	B	0.06405	0.002	T	0.06391	-1.0829	8	0.35671	T	0.21	-1.309	7.5127	0.27583	0.1911:0.0:0.0:0.8089	rs1051338;rs2229254;rs3191715;rs17845330;rs17858173;rs52817712;rs1051338	16	P38571	LICH_HUMAN	P	16	ENSP00000337354:T16P;ENSP00000413019:T16P;ENSP00000388415:T16P;ENSP00000282673:T16P	ENSP00000282673:T16P	T	-	1	0	LIPA	90997340	0.000000	0.05858	0.997000	0.53966	0.146000	0.21551	-0.090000	0.11163	2.216000	0.71823	0.454000	0.30748	ACC	T|0.740;G|0.254	0.254	strong		0.373	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		G	91007360	T	G	91007360	3	3	23	1	0	0	0	0	1	0	0	0	8819	1667	58	5	1189	5	LIPA	10	91007360	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	40364	91007360	44527387	2540	18996										
HECTD2	143279	hgsc.bcm.edu	37	chr10	93221018	93221018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttcattttagggaagatGtagaaaaagttaagtcatca	9	3	3	2	rs61754655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:93221018G>A	ENST00000298068.5	+	4	509	c.415G>A	c.(415-417)Gta>Ata	p.V139I	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.V139I|HECTD2_ENST00000446394.1_Missense_Mutation_p.V139I	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	139					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TAGGGAAGATGTAGAAAAAGT	0.284													G|||	4	0.000798722	0.0	0.0029	5008	,	,		12787	0.0		0.002	False		,,,				2504	0.0				p.V139I	NSCLC(12;376 469 1699 39910 41417)	Atlas-SNP	.											.	HECTD2	60	.	0			c.G415A						PASS	.	G	ILE/VAL,ILE/VAL	4,4400	8.1+/-20.4	0,4,2198	101	114	109		415,415	-0.3	1	10	dbSNP_129	109	54,8530	34.3+/-88.2	0,54,4238	yes	missense,missense	HECTD2	NM_173497.2,NM_182765.3	29,29	0,58,6436	AA,AG,GG		0.6291,0.0908,0.4466	benign,benign	139/208,139/777	93221018	58,12930	2202	4292	6494	SO:0001583	missense	143279	exon4			GAAGATGTAGAAA	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.415G>A	10.37:g.93221018G>A	ENSP00000298068:p.Val139Ile	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	101	76	0.752475	NM_173497	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.46	1.357431	0.24598	9.08E-4	0.006291	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.46819	1.19;0.86;1.2	5.1	-0.347	0.12617	.	0.414930	0.24467	N	0.038276	T	0.18383	0.0441	L	0.27053	0.805	0.80722	D	1	B;B;B	0.16603	0.0;0.0;0.018	B;B;B	0.10450	0.0;0.0;0.005	T	0.05402	-1.0887	10	0.15499	T	0.54	.	4.2595	0.10733	0.4162:0.0:0.3307:0.2531	rs61754655	139;139;139	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	I	139	ENSP00000401023:V139I;ENSP00000360746:V139I;ENSP00000298068:V139I	ENSP00000298068:V139I	V	+	1	0	HECTD2	93210998	0.670000	0.27512	0.997000	0.53966	0.982000	0.71751	-0.199000	0.09491	-0.086000	0.12550	0.467000	0.42956	GTA	G|0.997;A|0.003	0.003	strong		0.284	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			A	93221018	G	A	93221018	3	1	23	1	0	0	0	0	1	0	0	0	7040	1377	48	2	429	2	HECTD2	10	93221018	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2213658	93221018	42313729	2541	18997										
PPP1R3C	5507	hgsc.bcm.edu	37	chr10	93390158	93390158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctcttgcaacgagcagttCtccagacagacaaagttctt	8	12	3	2	rs35530640	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:93390158C>T	ENST00000238994.5	-	2	564	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACGAGCAGTTCTCCAGACAGA	0.418													C|||	49	0.00978435	0.0015	0.0144	5008	,	,		21324	0.0		0.0298	False		,,,				2504	0.0072				p.E160E		Atlas-SNP	.											.	PPP1R3C	30	.	0			c.G480A						PASS	.	C		36,4370	40.0+/-72.8	0,36,2167	91	89	90		480	4.9	1	10	dbSNP_126	90	321,8279	113.7+/-173.7	7,307,3986	no	coding-synonymous	PPP1R3C	NM_005398.4		7,343,6153	TT,TC,CC		3.7326,0.8171,2.7449		160/318	93390158	357,12649	2203	4300	6503	SO:0001819	synonymous_variant	5507	exon2			GCAGTTCTCCAGA	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.480G>A	10.37:g.93390158C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	32	27	0.84375	NM_005398		Silent	SNP	ENST00000238994.5	37	CCDS7416.1																																																																																			C|0.974;T|0.026	0.026	strong		0.418	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		T	93390158	C	T	93390158	2	4	23	1	0	0	0	0	0	0	0	1	12373	912	32	2		2	PPP1R3C	10	93390158	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	169140	93390158	42144589	2542	18998										
TNKS2	80351	hgsc.bcm.edu	37	chr10	93608142	93608142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgacacgtaccctaggcGgatgatgtcagcgctcttct	10	13	4	2	rs3758499	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:93608142G>A	ENST00000371627.4	+	19	2740	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	787					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TACCCTAGGCGGATGATGTCA	0.443													G|||	2015	0.402356	0.2375	0.4078	5008	,	,		17019	0.5456		0.3002	False		,,,				2504	0.5787				p.A787A		Atlas-SNP	.											.	TNKS2	103	.	0			c.G2361A						PASS	.	G		1047,3359	382.5+/-324.5	113,821,1269	65	61	62		2361	-6.9	1	10	dbSNP_107	62	2660,5940	429.1+/-356.1	387,1886,2027	no	coding-synonymous	TNKS2	NM_025235.3		500,2707,3296	AA,AG,GG		30.9302,23.7631,28.5022		787/1167	93608142	3707,9299	2203	4300	6503	SO:0001819	synonymous_variant	80351	exon19			CTAGGCGGATGAT	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2361G>A	10.37:g.93608142G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	50	38	0.76	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	CCDS7417.1																																																																																			G|0.687;A|0.313	0.313	strong		0.443	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		A	93608142	G	A	93608142	2	1	23	1	0	0	0	0	0	0	0	1	16318	1103	39	1		1	TNKS2	10	93608142	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	217984	93608142	41926605	2543	18999										
CYP26C1	340665	hgsc.bcm.edu	37	chr10	94824166	94824166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaagggaccagctgcatcGgcacctggagggggccattt	16	11	0	0	rs11187265	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:94824166G>A	ENST00000285949.5	+	4	734	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	245			R -> Q (in dbSNP:rs11187265).		anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CAGCTGCATCGGCACCTGGAG	0.602													g|||	370	0.0738818	0.0696	0.1643	5008	,	,		20138	0.001		0.0924	False		,,,				2504	0.0716				p.R245Q		Atlas-SNP	.											.	CYP26C1	25	.	0			c.G734A						PASS	.	A	GLN/ARG	310,4096	165.4+/-196.9	14,282,1907	54	52	52		734	-5.5	0.9	10	dbSNP_120	52	796,7804	186.7+/-234.1	36,724,3540	yes	missense	CYP26C1	NM_183374.2	43	50,1006,5447	AA,AG,GG		9.2558,7.0359,8.5038	benign	245/523	94824166	1106,11900	2203	4300	6503	SO:0001583	missense	340665	exon4			TGCATCGGCACCT		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.734G>A	10.37:g.94824166G>A	ENSP00000285949:p.Arg245Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	95	29	0.305263	NM_183374	Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	169	0.07738095238095238	42	0.08536585365853659	59	0.16298342541436464	1	0.0017482517482517483	67	0.08839050131926121	g	12.30	1.897735	0.33535	0.070359	0.092558	ENSG00000187553	ENST00000285949	T	0.65916	-0.18	5.33	-5.47	0.02600	.	1.122760	0.06534	N	0.742051	T	0.00210	0.0006	N	0.13043	0.29	0.80722	P	0.0	B	0.06786	0.001	B	0.13407	0.009	T	0.04103	-1.0977	9	0.31617	T	0.26	-4.0957	16.8136	0.85727	0.8792:0.0:0.1208:0.0	rs11187265;rs58644142	245	Q6V0L0	CP26C_HUMAN	Q	245	ENSP00000285949:R245Q	ENSP00000285949:R245Q	R	+	2	0	CYP26C1	94814156	0.004000	0.15560	0.879000	0.34478	0.768000	0.43524	0.072000	0.14617	-0.815000	0.04346	-2.396000	0.00226	CGG	G|0.914;A|0.086	0.086	strong		0.602	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		A	94824166	G	A	94824166	3	1	23	1	0	0	0	0	1	0	0	0	4157	1116	39	1	748	1	CYP26C1	10	94824166	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1216024	94824166	40710581	2544	19000										
MYOF	26509	hgsc.bcm.edu	37	chr10	95093619	95093619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taattcccgaaactgtctggGaggggctggcacgctggggt	16	9	1	0	rs61861290	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:95093619G>A	ENST00000359263.4	-	42	4614	c.4615C>T	c.(4615-4617)Ccc>Tcc	p.P1539S	MYOF_ENST00000371502.4_Missense_Mutation_p.P1558S|MYOF_ENST00000371501.4_Missense_Mutation_p.P1539S|MYOF_ENST00000358334.5_Missense_Mutation_p.P1526S	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1539	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.P1539A(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACTGTCTGGGAGGGGCTGGC	0.572													G|||	31	0.0061901	0.0008	0.0144	5008	,	,		15295	0.0		0.0189	False		,,,				2504	0.001				p.P1539S		Atlas-SNP	.											MYOF,trunk,malignant_melanoma,0,1	MYOF	177	1	1	Substitution - Missense(1)	skin(1)	c.C4615T						scavenged	.	G	SER/PRO,SER/PRO	14,4096		0,14,2041	51	54	53		4615,4576	5.2	1	10	dbSNP_129	53	142,8288		0,142,4073	yes	missense,missense	MYOF	NM_013451.3,NM_133337.2	74,74	0,156,6114	AA,AG,GG		1.6845,0.3406,1.244	possibly-damaging,possibly-damaging	1539/2062,1526/2049	95093619	156,12384	2055	4215	6270	SO:0001583	missense	26509	exon42			GTCTGGGAGGGGC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4615C>T	10.37:g.95093619G>A	ENSP00000352208:p.Pro1539Ser	Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	75	20	0.266667	NM_013451	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	24	0.01098901098901099	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	15	0.01978891820580475	G	27.1	4.797467	0.90538	0.003406	0.016845	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.23	5.23	0.72850	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	L	0.53249	1.67	0.80722	D	1	P;D	0.55800	0.918;0.973	P;P	0.54346	0.749;0.685	T	0.40942	-0.9536	10	0.45353	T	0.12	-14.1993	18.9988	0.92824	0.0:0.0:1.0:0.0	rs61861290	1526;1539	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	S	1526;1539;1539;1558	ENSP00000351094:P1526S;ENSP00000352208:P1539S;ENSP00000360556:P1539S;ENSP00000360557:P1558S	ENSP00000351094:P1526S	P	-	1	0	MYOF	95083609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.721000	0.93114	0.650000	0.86243	CCC	G|0.988;A|0.012	0.012	strong		0.572	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		A	95093619	G	A	95093619	3	1	23	1	0	0	0	0	1	0	0	0	10089	1174	41	2	1622	2	MYOF	10	95093619	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	269453	95093619	40441128	2545	19001										
CEP55	55165	hgsc.bcm.edu	37	chr10	95259979	95259979	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgactgataaagagagacaCagacttttggaggtaaatgg	12	5	0	5	rs3740370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:95259979C>G	ENST00000371485.3	+	2	475	c.171C>G	c.(169-171)caC>caG	p.H57Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	57			H -> Q (in dbSNP:rs3740370). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16406728}.		establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAGAGAGACACAGACTTTTGG	0.383													C|||	1345	0.26857	0.3238	0.1715	5008	,	,		18932	0.2887		0.2207	False		,,,				2504	0.2914				p.H57Q		Atlas-SNP	.											.	CEP55	35	.	0			c.C171G						PASS	.	C	GLN/HIS,GLN/HIS	1263,3143	430.1+/-342.5	192,879,1132	117	128	124		171,171	-1.1	0.9	10	dbSNP_107	124	1955,6645	345.8+/-325.9	210,1535,2555	yes	missense,missense	CEP55	NM_001127182.1,NM_018131.4	24,24	402,2414,3687	GG,GC,CC		22.7326,28.6655,24.7424	benign,benign	57/465,57/465	95259979	3218,9788	2203	4300	6503	SO:0001583	missense	55165	exon2			GAGACACAGACTT	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.171C>G	10.37:g.95259979C>G	ENSP00000360540:p.His57Gln	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	33	33	1	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	540	0.24725274725274726	160	0.3252032520325203	64	0.17679558011049723	161	0.28146853146853146	155	0.20448548812664907	C	4.002	-0.002321	0.07819	0.286655	0.227326	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.15952	2.38	5.39	-1.15	0.09709	.	0.772035	0.12648	N	0.450712	T	0.00012	0.0000	L	0.47716	1.5	0.50632	P	1.1099999999997223E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.46386	-0.9195	9	0.10377	T	0.69	-0.1339	2.9794	0.05948	0.2209:0.3378:0.3252:0.1162	rs3740370;rs11546296;rs52801109;rs3740370	57	Q53EZ4	CEP55_HUMAN	Q	57	ENSP00000360540:H57Q	ENSP00000351102:H57Q	H	+	3	2	CEP55	95249969	0.799000	0.28903	0.864000	0.33941	0.730000	0.41778	-0.508000	0.06344	-0.016000	0.14127	-1.121000	0.02013	CAC	C|0.756;G|0.244	0.244	strong		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		G	95259979	C	G	95259979	3	3	23	1	0	0	0	0	1	0	0	0	3255	477	17	4	173	4	CEP55	10	95259979	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	166360	95259979	40274768	2546	19002										
GPR120	338557	hgsc.bcm.edu	37	chr10	95326676	95326676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgccctggtgctggtggcgCgccgacgacgccgcggcgcg	19	16	0	0	rs61866610	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:95326676C>T	ENST00000371483.4	+	1	255	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	FFAR4_ENST00000371481.4_Missense_Mutation_p.R67C|FFAR4_ENST00000604414.1_Missense_Mutation_p.R67C	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	67	Poly-Arg.		R -> C (in dbSNP:rs61866610). {ECO:0000269|PubMed:15619630, ECO:0000269|PubMed:22343897}.	Missing (in Ref. 1; AAP72126). {ECO:0000305}.	hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										GCTGGTGGCGCGCCGACGACG	0.682													C|||	784	0.15655	0.0378	0.2277	5008	,	,		15030	0.3591		0.0447	False		,,,				2504	0.1728				p.R67C		Atlas-SNP	.											.	.	.	.	0			c.C199T						PASS	.	C	CYS/ARG,CYS/ARG	173,4227		4,165,2031	27	27	27		199,199	5.2	1	10	dbSNP_129	27	386,8208		10,366,3921	yes	missense,missense	O3FAR1	NM_001195755.1,NM_181745.3	180,180	14,531,5952	TT,TC,CC		4.4915,3.9318,4.302	probably-damaging,probably-damaging	67/362,67/378	95326676	559,12435	2200	4297	6497	SO:0001583	missense	338557	exon1			GTGGCGCGCCGAC		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.199C>T	10.37:g.95326676C>T	ENSP00000360538:p.Arg67Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	82	72	0.878049	NM_001195755	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	CCDS31248.1	326	0.14926739926739926	27	0.054878048780487805	58	0.16022099447513813	205	0.3583916083916084	36	0.047493403693931395	C	15.14	2.746101	0.49151	0.039318	0.044915	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.41400	1.0;1.0	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.093954	0.45126	D	0.000390	T	0.00012	0.0000	M	0.72118	2.19	0.21967	P	0.999441626	D;D	0.61697	0.988;0.99	P;P	0.55011	0.654;0.766	T	0.29488	-1.0010	9	0.72032	D	0.01	-27.4849	13.3065	0.60355	0.2729:0.7271:0.0:0.0	rs61866610	67;67	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	C	67	ENSP00000360536:R67C;ENSP00000360538:R67C	ENSP00000360536:R67C	R	+	1	0	O3FAR1	95316666	0.987000	0.35691	1.000000	0.80357	0.747000	0.42532	1.540000	0.36115	2.714000	0.92807	0.561000	0.74099	CGC	C|0.920;T|0.080	0.080	strong		0.682	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		T	95326676	C	T	95326676	3	4	23	1	0	0	0	0	1	0	0	0	6636	768	27	1	201	1	GPR120	10	95326676	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	66697	95326676	40208071	2547	19003										
NOC3L	64318	hgsc.bcm.edu	37	chr10	96106240	96106240	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaagtcataaatttttttGgtttattaatgtcttctgta	6	3	3	1	rs11187895	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:96106240G>C	ENST00000371361.3	-	11	1431	c.1331C>G	c.(1330-1332)cCa>cGa	p.P444R	NOC3L_ENST00000543788.1_Missense_Mutation_p.P182R|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.P444R	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	444			P -> R (in dbSNP:rs11187895).		fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.P444R(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAATTTTTTTGGTTTATTAAT	0.254													G|||	391	0.0780751	0.0061	0.0576	5008	,	,		15494	0.2093		0.0895	False		,,,				2504	0.0429				p.P444R		Atlas-SNP	.											NOC3L,NS,carcinoma,0,1	NOC3L	67	1	1	Substitution - Missense(1)	stomach(1)	c.C1331G						PASS	.	G	ARG/PRO	78,4296	64.7+/-102.0	0,78,2109	61	60	61		1331	2.8	1	10	dbSNP_120	61	785,7765	179.8+/-228.8	26,733,3516	yes	missense	NOC3L	NM_022451.9	103	26,811,5625	CC,CG,GG		9.1813,1.7833,6.6775	benign	444/801	96106240	863,12061	2187	4275	6462	SO:0001583	missense	64318	exon11			TTTTTTGGTTTAT	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1331C>G	10.37:g.96106240G>C	ENSP00000360412:p.Pro444Arg	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	69	44	0.637681	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	175	0.08012820512820513	3	0.006097560975609756	24	0.06629834254143646	82	0.14335664335664336	66	0.0870712401055409	G	6.558	0.471202	0.12461	0.017833	0.091813	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.14893	2.47;2.66;2.66	5.83	2.82	0.32997	.	0.224065	0.42420	D	0.000717	T	0.00073	0.0002	N	0.12569	0.235	0.31587	P	0.6543559999999999	B	0.27450	0.179	B	0.24974	0.057	T	0.38714	-0.9648	9	0.20046	T	0.44	-2.7874	7.8049	0.29195	0.078:0.0:0.447:0.475	rs11187895;rs60469249;rs11187895	444	Q8WTT2	NOC3L_HUMAN	R	182;444;444	ENSP00000437838:P182R;ENSP00000360412:P444R;ENSP00000360401:P444R	ENSP00000360401:P444R	P	-	2	0	NOC3L	96096230	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.740000	0.62087	0.810000	0.34279	0.655000	0.94253	CCA	G|0.928;C|0.072	0.072	strong		0.254	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		C	96106240	G	C	96106240	3	2	23	1	0	0	0	0	1	0	0	0	10514	1348	47	4	1115	4	NOC3L	10	96106240	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	779564	96106240	39428507	2548	19004										
C10orf12	26148	hgsc.bcm.edu	37	chr10	98742750	98742750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctcagcttgtcttgaaAtcaaagttcctaaaaatcct	4	11	3	1	rs3829856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:98742750A>C	ENST00000286067.2	+	1	1710	c.1603A>C	c.(1603-1605)Atc>Ctc	p.I535L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	535			I -> L (in dbSNP:rs3829856).							NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTGTCTTGAAATCAAAGTTCC	0.453													A|||	509	0.101637	0.0832	0.0476	5008	,	,		18675	0.1915		0.0646	False		,,,				2504	0.1104				p.I535L		Atlas-SNP	.											.	C10orf12	94	.	0			c.A1603C						PASS	.	A	LEU/ILE	333,4073	160.7+/-193.0	9,315,1879	71	80	77		1603	-2.5	0.4	10	dbSNP_107	77	503,8095	141.1+/-197.5	16,471,3812	yes	missense	C10orf12	NM_015652.2	5	25,786,5691	CC,CA,AA		5.8502,7.5579,6.4288	benign	535/1248	98742750	836,12168	2203	4299	6502	SO:0001583	missense	26148	exon1			CTTGAAATCAAAG	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1603A>C	10.37:g.98742750A>C	ENSP00000286067:p.Ile535Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	63	13	0.206349	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	212	0.09706959706959707	40	0.08130081300813008	20	0.055248618784530384	104	0.18181818181818182	48	0.0633245382585752	A	10.88	1.475286	0.26511	0.075579	0.058502	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10382	2.88	5.82	-2.46	0.06461	.	0.278980	0.24499	U	0.037985	T	0.00012	0.0000	N	0.19112	0.55	0.41806	P	0.01005900000000004	B	0.14805	0.011	B	0.16289	0.015	T	0.41124	-0.9526	9	0.36615	T	0.2	-0.0766	6.6806	0.23117	0.5194:0.1323:0.3484:0.0	rs3829856;rs52834733;rs61155862;rs3829856	535	Q8N655	CJ012_HUMAN	L	535;369	ENSP00000286067:I535L	ENSP00000286067:I535L	I	+	1	0	C10orf12	98732740	0.995000	0.38212	0.426000	0.26672	0.191000	0.23601	0.418000	0.21230	-0.712000	0.04988	-0.396000	0.06452	ATC	A|0.918;C|0.082	0.082	strong		0.453	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		C	98742750	A	C	98742750	3	2	23	1	0	0	0	0	1	0	0	0	1589	101	4	5	1605	5	C10orf12	10	98742750	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2636510	98742750	36791997	2549	19005										
SLIT1	6585	hgsc.bcm.edu	37	chr10	98806512	98806512	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagaggctgcgccctcgaaGgccccatcttcaatttctga	9	14	3	2	rs17112342	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:98806512G>C	ENST00000266058.4	-	18	1997	c.1752C>G	c.(1750-1752)gcC>gcG	p.A584A	SLIT1_ENST00000371070.4_Silent_p.A584A|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	584					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)		CGCCCTCGAAGGCCCCATCTT	0.607													G|||	337	0.0672923	0.0204	0.0288	5008	,	,		18144	0.1012		0.0477	False		,,,				2504	0.1431				p.A584A		Atlas-SNP	.											.	SLIT1	154	.	0			c.C1752G						PASS	.	G		86,4320	72.0+/-110.0	1,84,2118	63	62	63		1752	2.8	1	10	dbSNP_123	63	378,8222	124.1+/-182.9	19,340,3941	no	coding-synonymous	SLIT1	NM_003061.2		20,424,6059	CC,CG,GG		4.3953,1.9519,3.5676		584/1535	98806512	464,12542	2203	4300	6503	SO:0001819	synonymous_variant	6585	exon18			CTCGAAGGCCCCA	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.1752C>G	10.37:g.98806512G>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	28	4	0.142857	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																			G|0.955;C|0.045	0.045	strong		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		C	98806512	G	C	98806512	2	2	23	1	0	0	0	0	0	0	0	1	14739	987	35	4		4	SLIT1	10	98806512	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	63762	98806512	36728235	2550	19006										
C10orf28	27291	hgsc.bcm.edu	37	chr10	99969507	99969507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagaatttggtgtatcttttCctgatagggaatcatcatct	8	6	4	2	rs35122894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:99969507C>T	ENST00000298999.3	+	5	1939	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P546S|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	546			P -> S (in dbSNP:rs35122894).				nucleotide binding (GO:0000166)										TGTATCTTTTCCTGATAGGGA	0.428													C|||	48	0.00958466	0.0015	0.013	5008	,	,		19570	0.0		0.0258	False		,,,				2504	0.0112				p.P546S		Atlas-SNP	.											.	R3HCC1L	3	.	0			c.C1636T						PASS	.	C	SER/PRO	23,4383	29.9+/-59.1	0,23,2180	138	133	134		1636	-0.9	0.4	10	dbSNP_126	134	271,8329	102.9+/-164.1	5,261,4034	yes	missense	C10orf28	NM_014472.4	74	5,284,6214	TT,TC,CC		3.1512,0.522,2.2605	benign	546/779	99969507	294,12712	2203	4300	6503	SO:0001583	missense	27291	exon4			TCTTTTCCTGATA	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1636C>T	10.37:g.99969507C>T	ENSP00000298999:p.Pro546Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	60	20	0.333333	NM_001256620	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	26	0.011904761904761904	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	18	0.023746701846965697	C	0.006	-2.029569	0.00410	0.00522	0.031512	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.06142	3.34;3.34	4.85	-0.872	0.10638	.	0.467092	0.20282	N	0.095430	T	0.01558	0.0050	L	0.46741	1.465	0.19575	N	0.999967	B;B	0.26975	0.1;0.165	B;B	0.30855	0.032;0.121	T	0.36720	-0.9736	9	.	.	.	-3.1923	4.044	0.09764	0.0:0.3398:0.343:0.3172	rs35122894	546;546	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	S	546	ENSP00000359616:P546S;ENSP00000298999:P546S	.	P	+	1	0	C10orf28	99959497	0.975000	0.34042	0.373000	0.26003	0.026000	0.11368	0.183000	0.16919	0.153000	0.19213	0.491000	0.48974	CCT	C|0.980;T|0.020	0.020	strong		0.428	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		T	99969507	C	T	99969507	3	4	23	1	0	0	0	0	1	0	0	0	1601	855	30	2	1638	2	C10orf28	10	99969507	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1162995	99969507	35565240	2551	19007										
CNNM1	26507	hgsc.bcm.edu	37	chr10	101122084	101122084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaagtttgatgagaagaaCaagaaggccccggaacacta	11	8	0	5	rs117724968	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:101122084C>T	ENST00000356713.4	+	4	2248	c.1959C>T	c.(1957-1959)aaC>aaT	p.N653N	CNNM1_ENST00000446890.1_Silent_p.N582N|CNNM1_ENST00000370534.4_Silent_p.N288N|CNNM1_ENST00000370528.3_Silent_p.N582N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	653					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ATGAGAAGAACAAGAAGGCCC	0.522													c|||	12	0.00239617	0.0	0.0101	5008	,	,		7521	0.0		0.002	False		,,,				2504	0.0031				p.N653N		Atlas-SNP	.											.	CNNM1	101	.	0			c.C1959T						PASS	.	A		4,4402	8.1+/-20.4	0,4,2199	74	69	71		1959	4.4	1	10	dbSNP_132	71	37,8563	24.6+/-71.5	0,37,4263	no	coding-synonymous	CNNM1	NM_020348.2		0,41,6462	TT,TC,CC		0.4302,0.0908,0.3152		653/952	101122084	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	26507	exon4			GAAGAACAAGAAG	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1959C>T	10.37:g.101122084C>T		Somatic	252	1	0.00396825		WXS	Illumina HiSeq	Phase_I	132	93	0.704545	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2																																																																																			C|0.997;T|0.003	0.003	strong		0.522	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		T	101122084	C	T	101122084	2	4	23	1	0	0	0	0	0	0	0	1	3612	477	17	2		2	CNNM1	10	101122084	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1152577	101122084	34412663	2552	19008										
NKX2-3	159296	hgsc.bcm.edu	37	chr10	101293035	101293035	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgccctgcatgctggccgcCgctgaggggacgcaattttc	14	14	0	1	rs41290504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:101293035C>A	ENST00000344586.7	+	1	346	c.147C>A	c.(145-147)gcC>gcA	p.A49A	RP11-129J12.2_ENST00000548010.1_RNA	NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	49					CD4-positive, alpha-beta T cell differentiation (GO:0043367)|gland morphogenesis (GO:0022612)|leukocyte homeostasis (GO:0001776)|leukocyte migration (GO:0050900)|lymph node development (GO:0048535)|macrophage differentiation (GO:0030225)|odontogenesis of dentin-containing tooth (GO:0042475)|Peyer's patch development (GO:0048541)|plasma cell differentiation (GO:0002317)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic digestive tract morphogenesis (GO:0048621)|regulation of cell proliferation (GO:0042127)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)|triglyceride metabolic process (GO:0006641)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		TGCTGGCCGCCGCTGAGGGGA	0.592													A|||	2761	0.551318	0.5628	0.5994	5008	,	,		17122	0.5546		0.503	False		,,,				2504	0.5481				p.A49A	Pancreas(173;2021 2035 19403 19989 27291)	Atlas-SNP	.											NKX2-3,NS,carcinoma,0,1	NKX2-3	11	1	0			c.C147A						PASS	.	A		2326,1750		653,1020,365	32	37	35		147	-11.2	0	10	dbSNP_127	35	4376,4028		1130,2116,956	no	coding-synonymous	NKX2-3	NM_145285.2		1783,3136,1321	AA,AC,CC		47.9296,42.9342,46.2981		49/365	101293035	6702,5778	2038	4202	6240	SO:0001819	synonymous_variant	159296	exon1			GGCCGCCGCTGAG		CCDS41558.1	10q24.2	2013-09-20	2011-06-01	2002-10-04	ENSG00000119919	ENSG00000119919		"Homeoboxes / ANTP class : NKL subclass"	7836	protein-coding gene	gene with protein product		606727	"NK-2 (Drosophila) homolog C", "NK2 transcription factor related, locus 3 (Drosophila)"	NKX2C		1346742, 9142493	Standard	NM_145285		Approved	NKX2.3, CSX3, NKX4-3	uc009xwj.3	Q8TAU0	OTTHUMG00000018887	ENST00000344586.7:c.147C>A	10.37:g.101293035C>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	88	20	0.227273	NM_145285	B4DUZ4|Q9NYS6	Silent	SNP	ENST00000344586.7	37	CCDS41558.1																																																																																			C|0.494;A|0.506	0.506	strong		0.592	NKX2-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049808.2			A	101293035	C	A	101293035	2	1	23	1	0	0	0	0	0	0	0	1	10451	639	23	4		4	NKX2-3	10	101293035	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	170951	101293035	34241712	2553	19009										
PKD2L1	9033	hgsc.bcm.edu	37	chr10	102089663	102089663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatggaggcagcagctggaCacctgggtcctgtatgccgt	14	10	0	0	rs569511	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102089663C>T	ENST00000318222.3	-	1	580	c.198G>A	c.(196-198)gtG>gtA	p.V66V	PKD2L1_ENST00000338519.3_Silent_p.V66V|PKD2L1_ENST00000353274.3_Silent_p.V66V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	66					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCAGCTGGACACCTGGGTCC	0.557													C|||	685	0.136781	0.1021	0.085	5008	,	,		13499	0.0337		0.1153	False		,,,				2504	0.3487				p.C12Y		Atlas-SNP	.											.	PKD2L1	103	.	0			c.G35A						PASS	.	C		485,3921	226.2+/-241.8	30,425,1748	78	80	79		198	0.3	0.4	10	dbSNP_83	79	1145,7455	234.4+/-267.4	76,993,3231	no	coding-synonymous	PKD2L1	NM_016112.2		106,1418,4979	TT,TC,CC		13.314,11.0077,12.5327		66/806	102089663	1630,11376	2203	4300	6503	SO:0001819	synonymous_variant	9033	exon1			GCTGGACACCTGG	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.198G>A	10.37:g.102089663C>T		Somatic	255	1	0.00392157		WXS	Illumina HiSeq	Phase_I	162	108	0.666667	NM_001253837	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	203	0.09294871794871795	56	0.11382113821138211	32	0.08839779005524862	22	0.038461538461538464	93	0.12269129287598944	C	2.201	-0.383055	0.04966	0.110077	0.13314	ENSG00000107593	ENST00000465680	T	0.55930	0.49	5.57	0.255	0.15561	.	0.558636	0.17756	N	0.163041	T	0.00524	0.0017	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.08351	-1.0726	6	0.54805	T	0.06	-2.5227	2.1951	0.03909	0.1367:0.4921:0.1331:0.238	rs569511	.	.	.	I	23	ENSP00000434019:V23I	ENSP00000434019:V23I	V	-	1	0	PKD2L1	102079653	0.010000	0.17322	0.355000	0.25773	0.134000	0.20937	-0.344000	0.07780	0.325000	0.23359	-0.143000	0.13931	GTC	C|0.882;T|0.118	0.118	strong		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102089663	C	T	102089663	2	4	23	1	0	0	0	0	0	0	0	1	11967	465	17	2		2	PKD2L1	10	102089663	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	796628	102089663	33445084	2554	19010										
WNT8B	7479	hgsc.bcm.edu	37	chr10	102222957	102222957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagccttctgtgtacatctGtcttttcacctgtgtcctcc	6	13	4	0	rs3793771	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102222957G>C	ENST00000343737.5	+	1	160	c.32G>C	c.(31-33)tGt>tCt	p.C11S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	11			C -> S (in dbSNP:rs3793771).		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)		GTGTACATCTGTCTTTTCACC	0.428													C|||	933	0.186302	0.2012	0.1873	5008	,	,		18427	0.129		0.2008	False		,,,				2504	0.2096				p.C11S		Atlas-SNP	.											.	WNT8B	31	.	0			c.G32C						PASS	.	C	SER/CYS	894,3512	740.5+/-411.2	80,734,1389	141	135	137		32	4.7	1	10	dbSNP_107	137	1950,6650	725.0+/-406.5	222,1506,2572	yes	missense	WNT8B	NM_003393.3	112	302,2240,3961	CC,CG,GG		22.6744,20.2905,21.8668	benign	11/352	102222957	2844,10162	2203	4300	6503	SO:0001583	missense	7479	exon1			ACATCTGTCTTTT	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.32G>C	10.37:g.102222957G>C	ENSP00000340677:p.Cys11Ser	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	103	60	0.582524	NM_003393	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	CCDS7494.1	410	0.18772893772893773	85	0.17276422764227642	70	0.19337016574585636	88	0.15384615384615385	167	0.22031662269129287	C	6.745	0.506185	0.12883	0.202905	0.226744	ENSG00000075290	ENST00000343737	T	0.73047	-0.71	5.85	4.72	0.59763	.	0.610680	0.17969	N	0.155936	T	0.00039	0.0001	N	0.08118	0	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.06552	-1.0820	9	0.13470	T	0.59	.	8.145	0.31106	0.0:0.0712:0.1356:0.7932	rs3793771;rs17733373;rs3793771	11	Q93098	WNT8B_HUMAN	S	11	ENSP00000340677:C11S	ENSP00000340677:C11S	C	+	2	0	WNT8B	102212947	0.988000	0.35896	0.992000	0.48379	0.703000	0.40648	1.476000	0.35420	0.486000	0.27676	-1.145000	0.01858	TGT	G|0.799;C|0.201	0.201	strong		0.428	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		C	102222957	G	C	102222957	3	2	23	1	0	0	0	0	1	0	0	0	17394	1377	48	4	34	4	WNT8B	10	102222957	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133294	102222957	33311790	2555	19011										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102247408	102247408	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagcgatgatgaggacagCcttcaggataggcatgaagc	14	7	1	4	rs2298075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102247408C>A	ENST00000370345.3	-	26	3602	c.3505G>T	c.(3505-3507)Gct>Tct	p.A1169S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1169			A -> S (in dbSNP:rs2298075).		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGAGGACAGCCTTCAGGATA	0.562													C|||	946	0.188898	0.2088	0.1888	5008	,	,		20238	0.129		0.2018	False		,,,				2504	0.2106				p.A1169S		Atlas-SNP	.											SEC31B,NS,carcinoma,0,2	SEC31B	84	2	0			c.G3505T						scavenged	.	C	SER/ALA	908,3498	347.2+/-309.4	82,744,1377	49	41	44		3505	1.2	0.9	10	dbSNP_100	44	1955,6645	338.2+/-322.6	225,1505,2570	yes	missense	SEC31B	NM_015490.3	99	307,2249,3947	AA,AC,CC		22.7326,20.6083,22.0129	benign	1169/1180	102247408	2863,10143	2203	4300	6503	SO:0001583	missense	25956	exon26			GGACAGCCTTCAG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3505G>T	10.37:g.102247408C>A	ENSP00000359370:p.Ala1169Ser	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	50	38	0.76	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	415	0.190018315018315	89	0.18089430894308944	71	0.19613259668508287	88	0.15384615384615385	167	0.22031662269129287	C	7.962	0.747208	0.15710	0.206083	0.227326	ENSG00000075826	ENST00000370345	T	0.49432	0.78	4.45	1.23	0.21249	.	0.487653	0.22268	N	0.062301	T	0.00012	0.0000	N	0.03050	-0.425	0.09310	P	0.9999999999717782	B;B	0.17038	0.02;0.012	B;B	0.16289	0.015;0.007	T	0.20438	-1.0275	9	0.45353	T	0.12	-2.4525	7.7526	0.28907	0.2984:0.6126:0.0:0.089	rs2298075;rs17672195;rs52835061;rs59609476;rs2298075	1168;1169	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	1169	ENSP00000359370:A1169S	ENSP00000359370:A1169S	A	-	1	0	SEC31B	102237398	1.000000	0.71417	0.924000	0.36721	0.103000	0.19146	3.426000	0.52778	0.477000	0.27464	0.561000	0.74099	GCT	C|0.795;A|0.205	0.205	strong		0.562	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102247408	C	A	102247408	3	1	23	1	0	0	0	0	1	0	0	0	13999	739	26	4	38	4	SEC31B	10	102247408	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24451	102247408	33287339	2556	19012										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102247526	102247526	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacatcgggcaacctcatgGagcccagccacgacatgagg	11	14	1	1	rs2298074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102247526G>C	ENST00000370345.3	-	26	3484	c.3387C>G	c.(3385-3387)ctC>ctG	p.L1129L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1129					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CAACCTCATGGAGCCCAGCCA	0.597													G|||	713	0.142372	0.0401	0.1772	5008	,	,		20066	0.129		0.1998	False		,,,				2504	0.2106				p.L1129L		Atlas-SNP	.											.	SEC31B	84	.	0			c.C3387G						PASS	.	G		263,4143	148.8+/-183.1	11,241,1951	39	38	39		3387	0.7	0.8	10	dbSNP_100	39	1940,6660	332.8+/-320.3	222,1496,2582	no	coding-synonymous	SEC31B	NM_015490.3		233,1737,4533	CC,CG,GG		22.5581,5.9691,16.9383		1129/1180	102247526	2203,10803	2203	4300	6503	SO:0001819	synonymous_variant	25956	exon26			CTCATGGAGCCCA	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3387C>G	10.37:g.102247526G>C		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	89	52	0.58427	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	CCDS7495.1																																																																																			G|0.833;C|0.167	0.167	strong		0.597	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		C	102247526	G	C	102247526	2	2	23	1	0	0	0	0	0	0	0	1	13999	1161	41	4		4	SEC31B	10	102247526	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	118	102247526	33287221	2557	19013										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102265183	102265183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcaggggaggtatcagtgGtgcttgtgccacttgctctg	14	8	3	0	rs2295772	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102265183G>A	ENST00000370345.3	-	10	1211	c.1114C>T	c.(1114-1116)Cca>Tca	p.P372S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P372S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	372			P -> S (in dbSNP:rs2295772).		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGTATCAGTGGTGCTTGTGCC	0.512													A|||	927	0.185104	0.1997	0.1844	5008	,	,		20023	0.1319		0.1909	False		,,,				2504	0.2147				p.P372S		Atlas-SNP	.											.	SEC31B	84	.	0			c.C1114T						PASS	.	A	SER/PRO	858,3548	744.3+/-411.5	86,686,1431	182	190	187		1114	3.5	0.4	10	dbSNP_100	187	1893,6707	728.3+/-406.7	216,1461,2623	yes	missense	SEC31B	NM_015490.3	74	302,2147,4054	AA,AG,GG		22.0116,19.4734,21.1518	benign	372/1180	102265183	2751,10255	2203	4300	6503	SO:0001583	missense	25956	exon10			TCAGTGGTGCTTG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1114C>T	10.37:g.102265183G>A	ENSP00000359370:p.Pro372Ser	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	106	68	0.641509	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	395	0.18086080586080586	71	0.1443089430894309	71	0.19613259668508287	94	0.16433566433566432	159	0.20976253298153033	A	4.865	0.160694	0.09287	0.194734	0.220116	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.58358	0.74;0.34	5.82	3.47	0.39725	.	0.219047	0.46758	N	0.000273	T	0.00012	0.0000	N	0.00729	-1.24	0.09310	P	0.999999999998951	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21724	-1.0237	9	0.02654	T	1	-0.5132	1.7084	0.02887	0.3605:0.1058:0.093:0.4407	rs2295772;rs17672591;rs52801527;rs59297200;rs2295772	371;372	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	372	ENSP00000359370:P372S;ENSP00000391178:P372S	ENSP00000359370:P372S	P	-	1	0	SEC31B	102255173	1.000000	0.71417	0.368000	0.25939	0.978000	0.69477	2.770000	0.47662	0.123000	0.18342	-0.361000	0.07541	CCA	G|0.808;A|0.192	0.192	strong		0.512	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102265183	G	A	102265183	3	1	23	1	0	0	0	0	1	0	0	0	13999	1261	44	2	2493	2	SEC31B	10	102265183	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17657	102265183	33269564	2558	19014										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102265815	102265815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttgtcagcctgtctcatAtgctggacttcccagctcct	7	15	2	0	rs2295773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102265815A>G	ENST00000370345.3	-	9	1123	c.1026T>C	c.(1024-1026)caT>caC	p.H342H	SEC31B_ENST00000535773.1_Silent_p.H185H|SEC31B_ENST00000370329.5_Silent_p.H345H|SEC31B_ENST00000451524.1_Silent_p.H342H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	342					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCTGTCTCATATGCTGGACTT	0.542													G|||	927	0.185104	0.1997	0.1844	5008	,	,		19940	0.1319		0.1909	False		,,,				2504	0.2147				p.H342H		Atlas-SNP	.											SEC31B,colon,carcinoma,-2,1	SEC31B	84	1	0			c.T1026C						PASS	.	G		858,3548	744.3+/-411.5	86,686,1431	183	186	185		1026	3.1	1	10	dbSNP_100	185	1893,6707	728.3+/-406.7	216,1461,2623	no	coding-synonymous	SEC31B	NM_015490.3		302,2147,4054	GG,GA,AA		22.0116,19.4734,21.1518		342/1180	102265815	2751,10255	2203	4300	6503	SO:0001819	synonymous_variant	25956	exon9			TCTCATATGCTGG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1026T>C	10.37:g.102265815A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	104	76	0.730769	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	CCDS7495.1																																																																																			A|0.807;G|0.193	0.193	strong		0.542	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		G	102265815	A	G	102265815	2	3	23	1	0	0	0	0	0	0	0	1	13999	446	16	2		2	SEC31B	10	102265815	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	632	102265815	33268932	2559	19015										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102265847	102265847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagctcctacccatcacagAgtacaaactgatccagccgt	6	16	1	2	rs2295774	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102265847A>C	ENST00000370345.3	-	9	1091	c.994T>G	c.(994-996)Tct>Gct	p.S332A	SEC31B_ENST00000535773.1_Missense_Mutation_p.S175A|SEC31B_ENST00000370329.5_Missense_Mutation_p.S335A|SEC31B_ENST00000451524.1_Missense_Mutation_p.S332A	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	332			S -> A (in dbSNP:rs2295774). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCATCACAGAGTACAAACTG	0.542													A|||	751	0.14996	0.0719	0.1744	5008	,	,		19627	0.1319		0.1909	False		,,,				2504	0.2147				p.S332A		Atlas-SNP	.											SEC31B,colon,carcinoma,0,1	SEC31B	84	1	0			c.T994G						PASS	.	A	ALA/SER	340,4066	181.5+/-209.5	13,314,1876	158	156	157		994	5.9	1	10	dbSNP_100	157	1888,6712	335.8+/-321.6	216,1456,2628	yes	missense	SEC31B	NM_015490.3	99	229,1770,4504	CC,CA,AA		21.9535,7.7167,17.1306	probably-damaging	332/1180	102265847	2228,10778	2203	4300	6503	SO:0001583	missense	25956	exon9			TCACAGAGTACAA	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.994T>G	10.37:g.102265847A>C	ENSP00000359370:p.Ser332Ala	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	116	83	0.715517	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	338	0.15476190476190477	19	0.03861788617886179	66	0.18232044198895028	94	0.16433566433566432	159	0.20976253298153033	A	32	5.124589	0.94429	0.077167	0.219535	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	T;T;T;T	0.71817	1.47;1.47;-0.6;1.47	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050373	0.85682	D	0.000000	T	0.00300	0.0009	M	0.92169	3.28	0.09310	P	0.9999999837421	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.979;0.994;0.979;0.987	T	0.01566	-1.1323	9	0.72032	D	0.01	-11.7028	15.579	0.76418	1.0:0.0:0.0:0.0	rs2295774;rs2295774	332;335;331;332;332	A8KAL6;B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;.;SC31B_HUMAN	A	332;332;175;335	ENSP00000359370:S332A;ENSP00000391178:S332A;ENSP00000442621:S175A;ENSP00000359354:S335A	ENSP00000359354:S335A	S	-	1	0	SEC31B	102255837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.334000	0.79224	2.279000	0.76181	0.459000	0.35465	TCT	A|0.836;C|0.164	0.164	strong		0.542	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		C	102265847	A	C	102265847	3	2	23	1	0	0	0	0	1	0	0	0	13999	304	11	5	2617	5	SEC31B	10	102265847	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	32	102265847	33268900	2560	19016										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102269085	102269085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtagtacctggaaaggattCaagtcgagggctctgacagc	13	8	2	1	rs3793706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102269085C>A	ENST00000370345.3	-	4	484	c.387G>T	c.(385-387)ttG>ttT	p.L129F	SEC31B_ENST00000535773.1_Intron|SEC31B_ENST00000370329.5_Missense_Mutation_p.L129F|SEC31B_ENST00000451524.1_Missense_Mutation_p.L129F|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000531258.1_Intron	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	129			L -> F (in dbSNP:rs3793706). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGAAAGGATTCAAGTCGAGGG	0.493											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	972	0.194089	0.23	0.1873	5008	,	,		18265	0.1319		0.1928	False		,,,				2504	0.2157				p.L129F		Atlas-SNP	.											.	SEC31B	84	.	0			c.G387T						PASS	.	A	PHE/LEU	1058,3348	723.6+/-409.4	131,796,1276	161	169	166		387	4.8	1	10	dbSNP_107	166	1899,6701	727.9+/-406.7	216,1467,2617	yes	missense	SEC31B	NM_015490.3	22	347,2263,3893	AA,AC,CC		22.0814,24.0127,22.7357	benign	129/1180	102269085	2957,10049	2203	4300	6503	SO:0001583	missense	25956	exon4			AGGATTCAAGTCG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.387G>T	10.37:g.102269085C>A	ENSP00000359370:p.Leu129Phe	Somatic	163	1	0.00613497	1365	WXS	Illumina HiSeq	Phase_I	88	71	0.806818	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	415	0.190018315018315	89	0.18089430894308944	72	0.19889502762430938	94	0.16433566433566432	160	0.21108179419525067	A	3.549	-0.092094	0.07053	0.240127	0.220814	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000370329	T;T;T	0.51325	0.71;0.71;0.71	5.9	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044767	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00053	-2.39	0.38832	P	0.04412700000000003	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.29882	-0.9997	9	0.02654	T	1	-10.7429	1.3668	0.02202	0.5458:0.1513:0.1581:0.1448	rs3793706;rs61612790;rs3793706	129;129;129;129	B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;SC31B_HUMAN	F	129	ENSP00000359370:L129F;ENSP00000391178:L129F;ENSP00000359354:L129F	ENSP00000359354:L129F	L	-	3	2	SEC31B	102259075	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.670000	0.25157	0.501000	0.28013	-0.362000	0.07510	TTG	C|0.796;A|0.204	0.204	strong		0.493	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102269085	C	A	102269085	3	1	23	1	0	0	0	0	1	0	0	0	13999	825	29	4	3244	4	SEC31B	10	102269085	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3238	102269085	33265662	2561	19017										
SEC31B	25956	hgsc.bcm.edu	37	chr10	102269206	102269206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccattgtccccgccgccaAcaataaccccggagctttcc	7	18	0	0	rs3763695	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102269206A>G	ENST00000370345.3	-	4	363	c.266T>C	c.(265-267)gTt>gCt	p.V89A	SEC31B_ENST00000535773.1_Intron|SEC31B_ENST00000370329.5_Missense_Mutation_p.V89A|SEC31B_ENST00000451524.1_Missense_Mutation_p.V89A|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000531258.1_Intron	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	89			V -> A (in dbSNP:rs3763695). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCGCCGCCAACAATAACCCC	0.522											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	928	0.185304	0.1997	0.1844	5008	,	,		16965	0.1319		0.1909	False		,,,				2504	0.2157				p.V89A		Atlas-SNP	.											.	SEC31B	84	.	0			c.T266C						PASS	.	G	ALA/VAL	856,3550	742.3+/-411.4	86,684,1433	47	51	50		266	5.4	1	10	dbSNP_107	50	1889,6711	727.5+/-406.6	216,1457,2627	yes	missense	SEC31B	NM_015490.3	64	302,2141,4060	GG,GA,AA		21.9651,19.4281,21.1056	benign	89/1180	102269206	2745,10261	2203	4300	6503	SO:0001583	missense	25956	exon4			CCGCCAACAATAA	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.266T>C	10.37:g.102269206A>G	ENSP00000359370:p.Val89Ala	Somatic	71	0	0	1365	WXS	Illumina HiSeq	Phase_I	55	41	0.745455	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	395	0.18086080586080586	71	0.1443089430894309	71	0.19613259668508287	94	0.16433566433566432	159	0.20976253298153033	G	9.995	1.231922	0.22626	0.194281	0.219651	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000370329	T;T;T	0.24908	1.83;1.83;1.83	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.216027	0.45126	N	0.000397	T	0.00012	0.0000	N	0.00507	-1.42	0.09310	P	1.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.29882	-0.9997	9	0.07325	T	0.83	-5.3373	7.5007	0.27516	0.2557:0.0:0.7443:0.0	rs3763695;rs59707262;rs3763695	89;89;89;89	B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;SC31B_HUMAN	A	89	ENSP00000359370:V89A;ENSP00000391178:V89A;ENSP00000359354:V89A	ENSP00000359354:V89A	V	-	2	0	SEC31B	102259196	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.183000	0.65065	1.419000	0.47118	-0.213000	0.12676	GTT	A|0.809;G|0.191	0.191	strong		0.522	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		G	102269206	A	G	102269206	3	3	23	1	0	0	0	0	1	0	0	0	13999	43	2	2	3365	2	SEC31B	10	102269206	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	121	102269206	33265541	2562	19018										
FAM178A	55719	hgsc.bcm.edu	37	chr10	102716222	102716222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacagaaacactttgtgctActctgtggggctttggaaaa	11	8	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102716222A>G	ENST00000238961.4	+	18	3887	c.3345A>G	c.(3343-3345)ctA>ctG	p.L1115L	FAM178A_ENST00000370269.3_Silent_p.L1115L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1115						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACTTTGTGCTACTCTGTGGGG	0.328																																					p.L1115L		Atlas-SNP	.											.	FAM178A	9	.	0			c.A3345G						PASS	.						145	143	144					10																	102716222		2203	4300	6503	SO:0001819	synonymous_variant	55719	exon18			TGTGCTACTCTGT	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3345A>G	10.37:g.102716222A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_001136123	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	CCDS7500.1																																																																																			.	.	none		0.328	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			G	102716222	A	G	102716222	2	3	23	1	0	0	0	0	0	0	0	1	5503	378	14	2		2	FAM178A	10	102716222	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	447016	102716222	32818525	2563	19019										
SEMA4G	57715	hgsc.bcm.edu	37	chr10	102743494	102743494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgggaaggcagacgagggcGccgacggaaatactcactgg	17	10	1	1	rs41291464	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102743494G>A	ENST00000370250.4	+	14	2496	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R713H|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	708					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGACGAGGGCGCCGACGGAAA	0.632													g|||	37	0.00738818	0.0	0.0101	5008	,	,		12493	0.0		0.0249	False		,,,				2504	0.0051				p.R713H		Atlas-SNP	.											.	SEMA4G	55	.	0			c.G2138A						PASS	.		,HIS/ARG,,,	35,4371	40.0+/-72.8	0,35,2168	40	37	38		,2138,,,	1.1	0	10	dbSNP_127	38	296,8304	106.8+/-167.6	8,280,4012	yes	intron,missense,intron,intron,intron	SEMA4G,MRPL43	NM_001203244.1,NM_017893.3,NM_176792.2,NM_176793.1,NM_176794.1	,29,,,	8,315,6180	AA,AG,GG		3.4419,0.7944,2.545	,benign,,,	,713/844,,,	102743494	331,12675	2203	4300	6503	SO:0001583	missense	57715	exon14			GAGGGCGCCGACG	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2123G>A	10.37:g.102743494G>A	ENSP00000359270:p.Arg708His	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	60	17	0.283333	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		19	0.0086996336996337	1	0.0020325203252032522	0	0.0	0	0.0	18	0.023746701846965697	g	9.445	1.088965	0.20390	0.007944	0.034419	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.20069	2.1;2.16	5.34	1.08	0.20341	.	0.213352	0.23095	N	0.051989	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20505	-1.0273	10	0.66056	D	0.02	.	9.0697	0.36484	0.2909:0.0:0.7091:0.0	rs41291464	713	Q9NTN9-2	.	H	708;713	ENSP00000359270:R708H;ENSP00000210633:R713H	ENSP00000210633:R713H	R	+	2	0	SEMA4G	102733484	0.000000	0.05858	0.005000	0.12908	0.989000	0.77384	0.033000	0.13754	-0.066000	0.12998	0.550000	0.68814	CGC	G|0.981;A|0.019	0.019	strong		0.632	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			A	102743494	G	A	102743494	3	1	23	1	0	0	0	0	1	0	0	0	14036	1087	38	1	2192	1	SEMA4G	10	102743494	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27272	102743494	32791253	2564	19020										
MRPL43	84545	hgsc.bcm.edu	37	chr10	102746503	102746503	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaactcttcactgtgcttgCacctgggctggggcaggatc	13	12	2	0	rs2863095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:102746503C>T	ENST00000318325.2	-	3	519				MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000370234.4_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318364.8_Silent_p.V156V|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000370236.1_Silent_p.V156V|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|C10orf2_ENST00000311916.2_5'Flank	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACTGTGCTTGCACCTGGGCTG	0.617													C|||	1766	0.352636	0.3941	0.2882	5008	,	,		17301	0.5268		0.1829	False		,,,				2504	0.3374				p.V156V		Atlas-SNP	.											.	MRPL43	16	.	0			c.G468A						PASS	.	C	,,,	1555,2851	484.6+/-360.1	276,1003,924	83	78	80		468,,,	1.5	0	10	dbSNP_101	80	1787,6813	321.3+/-315.0	192,1403,2705	no	coding-synonymous,intron,intron,intron	MRPL43	NM_032112.2,NM_176792.2,NM_176793.1,NM_176794.1	,,,	468,2406,3629	TT,TC,CC		20.7791,35.2928,25.6958	,,,	156/160,,,	102746503	3342,9664	2203	4300	6503	SO:0001627	intron_variant	84545	exon3			TGCTTGCACCTGG	AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"Mitochondrial ribosomal proteins / large subunits"	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.465+2G>A	10.37:g.102746503C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	51	10	0.196078	NM_032112	B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Silent	SNP	ENST00000318325.2	37	CCDS7502.1																																																																																			C|0.704;T|0.296	0.296	strong		0.617	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1			T	102746503	C	T	102746503	1	4	23	0	1	0	0	0	0	0	0	0	9807	697	25	2		2	MRPL43	10	102746503	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3009	102746503	32788244	2565	19021										
PPRC1	23082	hgsc.bcm.edu	37	chr10	103906612	103906612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggggtccatggccctagtcGagtccatgtgggctctgggg	17	10	1	0	rs118161359	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:103906612G>A	ENST00000278070.2	+	9	3902	c.3863G>A	c.(3862-3864)cGa>cAa	p.R1288Q	PPRC1_ENST00000370012.1_Missense_Mutation_p.R255Q|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGCCCTAGTCGAGTCCATGTG	0.597													G|||	46	0.0091853	0.003	0.0173	5008	,	,		17362	0.0		0.0268	False		,,,				2504	0.0031				p.R1288Q		Atlas-SNP	.											.	PPRC1	151	.	0			c.G3863A						PASS	.	G	GLN/ARG	21,4385	28.1+/-56.4	0,21,2182	88	76	80		3863	4.6	1	10	dbSNP_132	80	182,8418	82.6+/-145.2	1,180,4119	yes	missense	PPRC1	NM_015062.3	43	1,201,6301	AA,AG,GG		2.1163,0.4766,1.5608	benign	1288/1665	103906612	203,12803	2203	4300	6503	SO:0001583	missense	23082	exon9			CTAGTCGAGTCCA	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3863G>A	10.37:g.103906612G>A	ENSP00000278070:p.Arg1288Gln	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	48	39	0.8125	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	30	0.013736263736263736	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	20	0.026385224274406333	G	14.70	2.612675	0.46631	0.004766	0.021163	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.28454	2.02;1.61	5.46	4.56	0.56223	.	0.232948	0.44688	D	0.000438	T	0.04588	0.0125	N	0.03608	-0.345	0.80722	D	1	P;B	0.36222	0.544;0.409	B;B	0.29077	0.098;0.028	T	0.10291	-1.0636	10	0.52906	T	0.07	.	14.438	0.67296	0.0:0.8461:0.1539:0.0	.	1168;1288	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Q	1288;255	ENSP00000278070:R1288Q;ENSP00000359029:R255Q	ENSP00000278070:R1288Q	R	+	2	0	PPRC1	103896602	0.999000	0.42202	0.999000	0.59377	0.982000	0.71751	1.741000	0.38238	1.298000	0.44778	-0.502000	0.04539	CGA	G|0.982;A|0.018	0.018	strong		0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103906612	G	A	103906612	3	1	23	1	0	0	0	0	1	0	0	0	12410	1058	37	1	3897	1	PPRC1	10	103906612	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1160109	103906612	31628135	2566	19022										
NOLC1	9221	hgsc.bcm.edu	37	chr10	103919738	103919738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaagaaggctgtggagaaGcagcagcctgtggaaagcag	15	9	0	2	rs143372447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:103919738G>A	ENST00000605788.1	+	8	1180	c.945G>A	c.(943-945)aaG>aaA	p.K315K	NOLC1_ENST00000603742.1_Silent_p.K34K|NOLC1_ENST00000488254.2_Silent_p.K316K|NOLC1_ENST00000405356.1_Silent_p.K325K	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	315	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTGGAGAAGCAGCAGCCTG	0.572													G|||	15	0.00299521	0.0	0.0014	5008	,	,		18044	0.0		0.004	False		,,,				2504	0.0102				p.K315K		Atlas-SNP	.											.	NOLC1	61	.	0			c.G945A						PASS	.	G		7,4399	12.9+/-30.5	0,7,2196	38	40	39		945	4.7	1	10	dbSNP_134	39	30,8570	19.8+/-62.0	0,30,4270	no	coding-synonymous	NOLC1	NM_004741.3		0,37,6466	AA,AG,GG		0.3488,0.1589,0.2845		315/700	103919738	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	9221	exon8			GGAGAAGCAGCAG	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.945G>A	10.37:g.103919738G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	73	16	0.219178	NM_004741	Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	CCDS7530.1																																																																																			G|0.998;A|0.002	0.002	strong		0.572	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		A	103919738	G	A	103919738	2	1	23	1	0	0	0	0	0	0	0	1	10529	962	34	2		2	NOLC1	10	103919738	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13126	103919738	31615009	2567	19023										
CUEDC2	79004	hgsc.bcm.edu	37	chr10	104184081	104184081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctcttctttgagcatttcGggccgctgcaggggctctgg	14	11	3	1	rs1044476	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:104184081G>A	ENST00000369937.4	-	5	496	c.351C>T	c.(349-351)ccC>ccT	p.P117P	CUEDC2_ENST00000465409.1_5'Flank|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	117						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.P117P(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGAGCATTTCGGGCCGCTGCA	0.582													G|||	416	0.0830671	0.0121	0.0821	5008	,	,		17467	0.0923		0.1461	False		,,,				2504	0.1053				p.P117P		Atlas-SNP	.											CUEDC2,NS,carcinoma,0,1	CUEDC2	22	1	1	Substitution - coding silent(1)	stomach(1)	c.C351T						PASS	.	G		127,3617		1,125,1746	77	81	80		351	-7.9	0.7	10	dbSNP_86	80	992,7210		61,870,3170	no	coding-synonymous	CUEDC2	NM_024040.2		62,995,4916	AA,AG,GG		12.0946,3.3921,9.3672		117/288	104184081	1119,10827	1872	4101	5973	SO:0001819	synonymous_variant	79004	exon5			CATTTCGGGCCGC	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.351C>T	10.37:g.104184081G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	83	79	0.951807	NM_024040	D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	CCDS41566.1																																																																																			G|0.898;A|0.102	0.102	strong		0.582	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		A	104184081	G	A	104184081	2	1	23	1	0	0	0	0	0	0	0	1	4053	1103	39	1		1	CUEDC2	10	104184081	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	264343	104184081	31350666	2568	19024										
CYP17A1	1586	hgsc.bcm.edu	37	chr10	104596924	104596924	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcttggtgcccatacgaacCgaatagatggggccatattt	11	9	1	1	rs6163	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:104596924C>A	ENST00000369887.3	-	1	366	c.195G>T	c.(193-195)tcG>tcT	p.S65S	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	65					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CCATACGAACCGAATAGATGG	0.542													g|||	2055	0.410343	0.3268	0.4179	5008	,	,		19704	0.5873		0.3926	False		,,,				2504	0.3538				p.S65S		Atlas-SNP	.											CYP17A1,NS,carcinoma,-1,1	CYP17A1	48	1	0			c.G195T						PASS	.			1593,2813		292,1009,902	126	116	120		195	-0.5	0	10	dbSNP_52	120	3392,5208		663,2066,1571	no	coding-synonymous	CYP17A1	NM_000102.3		955,3075,2473	AA,AC,CC		39.4419,36.1552,38.3285		65/509	104596924	4985,8021	2203	4300	6503	SO:0001819	synonymous_variant	1586	exon1			ACGAACCGAATAG	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.195G>T	10.37:g.104596924C>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	82	53	0.646341	NM_000102	Q5TZV7	Silent	SNP	ENST00000369887.3	37	CCDS7541.1																																																																																			C|0.605;A|0.390	0.390	strong		0.542	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		A	104596924	C	A	104596924	2	1	23	1	0	0	0	0	0	0	0	1	4147	639	23	4		4	CYP17A1	10	104596924	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	412843	104596924	30937823	2569	19025										
AS3MT	57412	hgsc.bcm.edu	37	chr10	104638723	104638723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacatgaaaaagaactaaTgtttgatgccaattttacat	7	5	0	3	rs11191439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:104638723T>C	ENST00000369880.3	+	9	937	c.860T>C	c.(859-861)aTg>aCg	p.M287T	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	287			M -> T (common polymorphism; frequency in African-Americans 0.108 and Caucasian- Americans 0.100; enzyme activity is 350% of wild-type; dbSNP:rs11191439). {ECO:0000269|PubMed:16407288, ECO:0000269|PubMed:18334919}.		arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AAAGAACTAATGTTTGATGCC	0.368													T|||	386	0.0770767	0.0938	0.1009	5008	,	,		20509	0.0218		0.1133	False		,,,				2504	0.0573				p.M287T		Atlas-SNP	.											.	AS3MT	17	.	0			c.T860C	GRCh37	CM081161	AS3MT	M	rs11191439	PASS	.	T	THR/MET	434,3340		27,380,1480	132	121	124		860	2.9	0.1	10	dbSNP_120	124	843,7359		38,767,3296	yes	missense	AS3MT	NM_020682.3	81	65,1147,4776	CC,CT,TT		10.278,11.4997,10.663	benign	287/376	104638723	1277,10699	1887	4101	5988	SO:0001583	missense	57412	exon9			AACTAATGTTTGA	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.860T>C	10.37:g.104638723T>C	ENSP00000358896:p.Met287Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	75	54	0.72	NM_020682	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	CCDS41567.1	179	0.08195970695970696	48	0.0975609756097561	31	0.0856353591160221	14	0.024475524475524476	86	0.11345646437994723	T	0.012	-1.669566	0.00758	0.114997	0.10278	ENSG00000214435	ENST00000369880	T	0.21932	1.98	5.4	2.9	0.33743	.	0.531595	0.19599	N	0.110423	T	0.00144	0.0004	N	0.04508	-0.205	0.24058	P	0.996029	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.31696	-0.9934	9	0.14252	T	0.57	-1.7851	5.5404	0.17036	0.2478:0.0856:0.0:0.6667	rs11191439;rs17725209;rs17884200;rs17885947;rs11191439	287;287;287	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	T	287	ENSP00000358896:M287T	ENSP00000358896:M287T	M	+	2	0	AS3MT	104628713	1.000000	0.71417	0.113000	0.21522	0.025000	0.11179	2.096000	0.41738	0.977000	0.38444	-0.441000	0.05720	ATG	T|0.914;C|0.086	0.086	strong		0.368	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		C	104638723	T	C	104638723	3	2	23	1	0	0	0	0	1	0	0	0	1005	1464	51	2	894	2	AS3MT	10	104638723	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	41799	104638723	30896024	2570	19026										
CNNM2	54805	hgsc.bcm.edu	37	chr10	104678801	104678801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatggagaagagcaagtcCtattacctgtgcacgtcgct	11	9	0	3	rs117691462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:104678801C>T	ENST00000369878.4	+	1	752	c.564C>T	c.(562-564)tcC>tcT	p.S188S	CNNM2_ENST00000369875.3_Silent_p.S188S|CNNM2_ENST00000433628.2_Silent_p.S188S	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	188					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGAGCAAGTCCTATTACCTGT	0.652													C|||	8	0.00159744	0.0008	0.0	5008	,	,		13685	0.0		0.007	False		,,,				2504	0.0				p.S188S		Atlas-SNP	.											.	CNNM2	119	.	0			c.C564T						PASS	.	C	,,	2,4402		0,2,2200	96	104	102		564,564,564	2.6	1	10	dbSNP_132	102	46,8548		0,46,4251	no	coding-synonymous,coding-synonymous,coding-synonymous	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	,,	0,48,6451	TT,TC,CC		0.5353,0.0454,0.3693	,,	188/876,188/854,188/553	104678801	48,12950	2202	4297	6499	SO:0001819	synonymous_variant	54805	exon1			CAAGTCCTATTAC	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.564C>T	10.37:g.104678801C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	75	62	0.826667	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	CCDS44474.1																																																																																			C|0.996;T|0.004	0.004	strong		0.652	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104678801	C	T	104678801	2	4	23	1	0	0	0	0	0	0	0	1	3613	668	24	2		2	CNNM2	10	104678801	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40078	104678801	30855946	2571	19027										
CNNM2	54805	hgsc.bcm.edu	37	chr10	104836853	104836853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcatgacgggttgccagaCgagacagccaacctgctcaa	11	13	1	3	rs35647154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:104836853C>T	ENST00000369878.4	+	8	2732	c.2544C>T	c.(2542-2544)gaC>gaT	p.D848D	CNNM2_ENST00000433628.2_Silent_p.D826D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	848					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGTTGCCAGACGAGACAGCCA	0.552													C|||	139	0.0277556	0.0106	0.0461	5008	,	,		17827	0.001		0.0795	False		,,,				2504	0.0123				p.D848D		Atlas-SNP	.											.	CNNM2	119	.	0			c.C2544T						PASS	.	C	,	98,4154		1,96,2029	97	104	102		2544,2478	-9.7	0.2	10	dbSNP_126	102	584,7862		21,542,3660	no	coding-synonymous,coding-synonymous	CNNM2	NM_017649.3,NM_199076.1	,	22,638,5689	TT,TC,CC		6.9145,2.3048,5.3709	,	848/876,826/854	104836853	682,12016	2126	4223	6349	SO:0001819	synonymous_variant	54805	exon8			GCCAGACGAGACA	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2544C>T	10.37:g.104836853C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	26	0.702703	NM_017649	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	CCDS44474.1																																																																																			C|0.952;T|0.048	0.048	strong		0.552	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104836853	C	T	104836853	2	4	23	1	0	0	0	0	0	0	0	1	3613	535	19	1		1	CNNM2	10	104836853	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	158052	104836853	30697894	2572	19028										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108367020	108367020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggtaagccagggagcacCgccaccaggatgtgctggcc	16	12	0	0	rs7082289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:108367020C>T	ENST00000263054.6	-	23	3076	c.3069G>A	c.(3067-3069)gcG>gcA	p.A1023A	SORCS1_ENST00000369698.1_Silent_p.A558A|SORCS1_ENST00000344440.6_Silent_p.A1023A|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1023					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGAGCACCGCCACCAGGA	0.552													C|||	1187	0.237021	0.323	0.0994	5008	,	,		19392	0.2401		0.0765	False		,,,				2504	0.3804				p.A1023A		Atlas-SNP	.											.	SORCS1	534	.	0			c.G3069A						PASS	.	C	,,,,,	1246,3160	428.5+/-341.9	184,878,1141	70	67	68		3069,3069,3069,3069,3069,3069	-11.8	0	10	dbSNP_116	68	721,7879	175.9+/-225.9	31,659,3610	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	215,1537,4751	TT,TC,CC		8.3837,28.2796,15.1238	,,,,,	1023/1199,1023/1180,1023/1131,1023/1160,1023/1180,1023/1169	108367020	1967,11039	2203	4300	6503	SO:0001819	synonymous_variant	114815	exon23			GAGCACCGCCACC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3069G>A	10.37:g.108367020C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	55	9	0.163636	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1	358	0.16391941391941392	135	0.27439024390243905	36	0.09944751381215469	125	0.21853146853146854	62	0.08179419525065963	C	5.613	0.297926	0.10622	0.282796	0.083837	ENSG00000108018	ENST00000452214	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999955085	.	.	.	.	.	.	T	0.23976	-1.0173	3	.	.	.	-22.0366	9.601	0.39603	0.055:0.1218:0.2746:0.5486	rs7082289;rs60556865;rs7082289	.	.	.	Q	38	.	.	R	-	2	0	SORCS1	108357010	0.000000	0.05858	0.001000	0.08648	0.710000	0.40934	-2.984000	0.00661	-5.598000	0.00012	-0.136000	0.14681	CGG	C|0.839;T|0.161	0.161	strong		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108367020	C	T	108367020	2	4	23	1	0	0	0	0	0	0	0	1	14930	639	23	1		1	SORCS1	10	108367020	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3530167	108367020	27167727	2573	19029										
VWA2	340706	hgsc.bcm.edu	37	chr10	116045993	116045993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttgcggcaggcggcagaGcgtggcttcgggagcgccac	18	13	0	1	rs566742651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:116045993G>A	ENST00000392982.3	+	11	1543	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	VWA2_ENST00000603594.1_Silent_p.E431E			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	431	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGCGGCAGAGCGTGGCTTCG	0.662																																					p.E431E		Atlas-SNP	.											.	VWA2	64	.	0			c.G1293A						PASS	.						56	49	51					10																	116045993		2203	4299	6502	SO:0001819	synonymous_variant	340706	exon11			GGCAGAGCGTGGC	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1293G>A	10.37:g.116045993G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	89	43	0.483146	NM_001272046	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37																																																																																				.	.	none		0.662	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		A	116045993	G	A	116045993	2	1	23	1	0	0	0	0	0	0	0	1	17236	962	34	2		2	VWA2	10	116045993	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7678973	116045993	19488754	2574	19030										
AFAP1L2	84632	hgsc.bcm.edu	37	chr10	116091629	116091629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgctggctgggctccccaTtgggtagcaggccctgctcc	14	14	0	0	rs117043677	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:116091629T>C	ENST00000304129.4	-	4	277	c.248A>G	c.(247-249)aAt>aGt	p.N83S	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.N83S|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.N83S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	83					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGGCTCCCCATTGGGTAGCAG	0.612													T|||	21	0.00419329	0.003	0.0043	5008	,	,		16175	0.0		0.0139	False		,,,				2504	0.0				p.N83S		Atlas-SNP	.											.	AFAP1L2	90	.	0			c.A248G						PASS	.	T	SER/ASN,SER/ASN	8,4206		0,8,2099	48	34	39		248,248	5.5	1	10	dbSNP_132	39	58,8090		0,58,4016	yes	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	46,46	0,66,6115	CC,CT,TT		0.7118,0.1898,0.5339	probably-damaging,probably-damaging	83/819,83/815	116091629	66,12296	2107	4074	6181	SO:0001583	missense	84632	exon4			TCCCCATTGGGTA	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.248A>G	10.37:g.116091629T>C	ENSP00000303042:p.Asn83Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	138	74	0.536232	NM_032550	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	14	0.00641025641025641	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	10	0.013192612137203167	T	14.14	2.448016	0.43429	0.001898	0.007118	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.31769	2.48;2.49;2.32;1.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	L	0.56769	1.78	0.46061	D	0.998848	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.997	D;D;D;D;P	0.87578	0.998;0.996;0.948;0.957;0.907	T	0.31696	-0.9934	10	0.30854	T	0.27	-34.4191	12.0678	0.53598	0.0:0.0:0.0:1.0	.	83;83;83;83;83	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	83;83;82;101;83;101	ENSP00000358276:N83S;ENSP00000303042:N83S;ENSP00000444511:N83S;ENSP00000396781:N101S	ENSP00000303042:N83S	N	-	2	0	AFAP1L2	116081619	1.000000	0.71417	0.974000	0.42286	0.228000	0.25075	5.373000	0.66162	2.103000	0.63969	0.533000	0.62120	AAT	T|0.995;C|0.005	0.005	strong		0.612	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		C	116091629	T	C	116091629	3	2	23	1	0	0	0	0	1	0	0	0	355	1493	52	2	2272	2	AFAP1L2	10	116091629	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	45636	116091629	19443118	2575	19031										
TRUB1	142940	hgsc.bcm.edu	37	chr10	116702425	116702425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctggaatgccttctccagAatggaccaagaggaaaaagc	11	9	1	2	rs34393297	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:116702425A>C	ENST00000298746.3	+	2	369	c.308A>C	c.(307-309)gAa>gCa	p.E103A	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	103			E -> A (in dbSNP:rs34393297).		pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CCTTCTCCAGAATGGACCAAG	0.448													A|||	50	0.00998403	0.0	0.0159	5008	,	,		18006	0.0		0.0318	False		,,,				2504	0.0072				p.E103A		Atlas-SNP	.											.	TRUB1	30	.	0			c.A308C						PASS	.	A	ALA/GLU	37,4369	41.6+/-74.8	0,37,2166	72	72	72		308	4.9	1	10	dbSNP_126	72	307,8293	110.6+/-171.0	9,289,4002	yes	missense	TRUB1	NM_139169.4	107	9,326,6168	CC,CA,AA		3.5698,0.8398,2.6449	benign	103/350	116702425	344,12662	2203	4300	6503	SO:0001583	missense	142940	exon2			CTCCAGAATGGAC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.308A>C	10.37:g.116702425A>C	ENSP00000298746:p.Glu103Ala	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_139169	B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	31	0.014194139194139194	0	0.0	7	0.019337016574585635	0	0.0	24	0.0316622691292876	A	15.77	2.931257	0.52866	0.008398	0.035698	ENSG00000165832	ENST00000298746	T	0.46451	0.87	6.07	4.88	0.63580	Pseudouridine synthase, catalytic domain (1);	0.264917	0.42172	D	0.000753	T	0.10809	0.0264	L	0.51422	1.61	0.33403	D	0.577563	B	0.13594	0.008	B	0.08055	0.003	T	0.36986	-0.9725	10	0.72032	D	0.01	-23.0482	9.727	0.40337	0.8261:0.1739:0.0:0.0	rs34393297	103	Q8WWH5	TRUB1_HUMAN	A	103	ENSP00000298746:E103A	ENSP00000298746:E103A	E	+	2	0	TRUB1	116692415	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.987000	0.29603	2.326000	0.78906	0.533000	0.62120	GAA	A|0.977;C|0.023	0.023	strong		0.448	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		C	116702425	A	C	116702425	3	2	23	1	0	0	0	0	1	0	0	0	16599	246	9	5	314	5	TRUB1	10	116702425	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	610796	116702425	18832322	2576	19032										
ATRNL1	26033	hgsc.bcm.edu	37	chr10	117486763	117486763	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaaccccctccagcaactGcttcgagaacgacagcagat	7	14	0	2	rs2254619	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:117486763G>T	ENST00000355044.3	+	27	3927	c.3801G>T	c.(3799-3801)ctG>ctT	p.L1267L	ATRNL1_ENST00000423111.2_Silent_p.L318L|ATRNL1_ENST00000303745.7_Silent_p.L60L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1267					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)		TCCAGCAACTGCTTCGAGAAC	0.428													G|||	1007	0.201078	0.0983	0.2565	5008	,	,		17727	0.0387		0.4195	False		,,,				2504	0.2434				p.L1267L		Atlas-SNP	.											.	ATRNL1	219	.	0			c.G3801T						PASS	.	G		610,3796	268.9+/-268.7	38,534,1631	46	44	45		3801	2.9	1	10	dbSNP_100	45	3538,5062	514.7+/-378.5	709,2120,1471	no	coding-synonymous	ATRNL1	NM_207303.2		747,2654,3102	TT,TG,GG		41.1395,13.8448,31.893		1267/1380	117486763	4148,8858	2203	4300	6503	SO:0001819	synonymous_variant	26033	exon27			GCAACTGCTTCGA	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.3801G>T	10.37:g.117486763G>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																			G|0.735;T|0.265	0.265	strong		0.428	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117486763	G	T	117486763	2	4	23	1	0	0	0	0	0	0	0	1	1207	1306	46	4		4	ATRNL1	10	117486763	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	784338	117486763	18047984	2577	19033										
PNLIPRP3	119548	hgsc.bcm.edu	37	chr10	118231317	118231317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgttaaactcagtggaagCgaagtcactcaaggaactgt	10	8	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:118231317C>T	ENST00000369230.3	+	10	1244	c.1098C>T	c.(1096-1098)agC>agT	p.S366S		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	366	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCAGTGGAAGCGAAGTCACTC	0.453																																					p.S366S		Atlas-SNP	.											.	PNLIPRP3	101	.	0			c.C1098T						PASS	.						203	209	207					10																	118231317		2203	4300	6503	SO:0001819	synonymous_variant	119548	exon10			TGGAAGCGAAGTC	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1098C>T	10.37:g.118231317C>T		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	200	86	0.43	NM_001011709		Silent	SNP	ENST00000369230.3	37	CCDS31292.1																																																																																			.	.	none		0.453	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		T	118231317	C	T	118231317	2	4	23	1	0	0	0	0	0	0	0	1	12152	767	27	1		1	PNLIPRP3	10	118231317	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	744554	118231317	17303430	2578	19034										
HSPA12A	259217	hgsc.bcm.edu	37	chr10	118435989	118435989	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatccgcagcatcccctgCgaggaccacttcacaaaatc	6	17	2	0	rs11197793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:118435989C>A	ENST00000369209.3	-	11	1415	c.1311G>T	c.(1309-1311)tcG>tcT	p.S437S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	437						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GCATCCCCTGCGAGGACCACT	0.532													C|||	28	0.00559105	0.0008	0.0101	5008	,	,		22502	0.0		0.0199	False		,,,				2504	0.0				p.S437S		Atlas-SNP	.											.	HSPA12A	81	.	0			c.G1311T						PASS	.	C		10,4234		0,10,2112	106	109	108		1311	-11.3	0.3	10	dbSNP_120	108	115,8393		0,115,4139	no	coding-synonymous	HSPA12A	NM_025015.2		0,125,6251	AA,AC,CC		1.3517,0.2356,0.9802		437/676	118435989	125,12627	2122	4254	6376	SO:0001819	synonymous_variant	259217	exon11			CCCCTGCGAGGAC	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1311G>T	10.37:g.118435989C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	82	45	0.548781	NM_025015		Silent	SNP	ENST00000369209.3	37	CCDS41569.1																																																																																			C|0.991;A|0.009	0.009	strong		0.532	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118435989	C	A	118435989	2	1	23	1	0	0	0	0	0	0	0	1	7404	755	27	4		4	HSPA12A	10	118435989	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	204672	118435989	17098758	2579	19035										
C10orf46	143384	hgsc.bcm.edu	37	chr10	120489828	120489828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcataggatatggggatataGtcaccaggactctgagttaa	11	6	3	1	rs41284412	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:120489828G>A	ENST00000369151.3	-	2	945	c.462C>T	c.(460-462)gaC>gaT	p.D154D	CACUL1_ENST00000340214.4_Silent_p.D154D	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	154					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TGGGGATATAGTCACCAGGAC	0.348													G|||	4	0.000798722	0.0	0.0	5008	,	,		19535	0.0		0.004	False		,,,				2504	0.0				p.D154D		Atlas-SNP	.											.	.	.	.	0			c.C462T						PASS	.	G		3,3659		0,3,1828	125	121	122		462	5.7	1	10	dbSNP_127	122	41,8135		0,41,4047	no	coding-synonymous	C10orf46	NM_153810.4		0,44,5875	AA,AG,GG		0.5015,0.0819,0.3717		154/370	120489828	44,11794	1831	4088	5919	SO:0001819	synonymous_variant	143384	exon2			GATATAGTCACCA	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.462C>T	10.37:g.120489828G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	104	54	0.519231	NM_153810	Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	CCDS41570.1																																																																																			G|0.998;A|0.002	0.002	strong		0.348	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		A	120489828	G	A	120489828	2	1	23	1	0	0	0	0	0	0	0	1	1604	1020	36	2		2	C10orf46	10	120489828	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2053839	120489828	15044919	2580	19036										
EIF3A	8661	hgsc.bcm.edu	37	chr10	120819176	120819187	+	In_Frame_Del	DEL	AAGGAACCAAAG	AAGGAACCAAAG	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagttggaaagcatcaacaaAaggaaccaaagaagtcaaac					rs374628063		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	AAGGAACCAAAG	AAGGAACCAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:120819176_120819187delAAGGAACCAAAG	ENST00000369144.3	-	10	1497_1508	c.1370_1381delCTTTGGTTCCTT	c.(1369-1383)tctttggttcctttt>ttt	p.SLVP457del	SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_In_Frame_Del_p.SLVP423del|SNORA19_ENST00000410656.1_RNA	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)	p.P460F(1)		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)		GCATCAACAAAAGGAACCAAAGAAGTCAAACG	0.434																																					p.457_461del		Atlas-Indel	.											.	EIF3A	142	.	1	Substitution - Missense(1)	skin(1)	c.1371_1382del						PASS	.																																			SO:0001651	inframe_deletion	8661	exon10			.	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.1370_1381delCTTTGGTTCCTT	10.37:g.120819176_120819187delAAGGAACCAAAG	ENSP00000358140:p.Ser457_Pro460del	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	176	25	0.142045	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	In_Frame_Del	DEL	ENST00000369144.3	37	CCDS7608.1																																																																																			.	.	none		0.434	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		-	120819187	AAGGAACCAAAG	-	120819176	7	5	23	1	0	1	0	1	0	0	0	0	5012	14	1	0	2819	0	EIF3A	10	120819176	In_Frame_Del	DEL	AAGGAACCAAAG	TCGA-GR-7353-01A-11D-2210-10	329348	120819176	14715571	2581	19037										
INPP5F	79892	hgsc.bcm.edu	37	chr10	121587063	121587065	+	IGR	DEL	CTT	CTT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagggcttcatgtaactcCttctccttcagagagcagta					rs201053908|rs148162878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:121587063_121587065delCTT	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_In_Frame_Del_p.S448del|INPP5F_ENST00000361976.2_In_Frame_Del_p.S1058del	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						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						CATGTAACTCCTTCTCCTTCAGA	0.493														25	0.00499201	0.0	0.0144	5008	,	,		18792	0.002		0.0099	False		,,,				2504	0.0031				p.1057_1057del		Pindel	.											.	INPP5F	112	.	0			c.3169_3171del						PASS	.			5,4255		1,3,2126						5.9	1			106	70,8176		4,62,4057	no	coding	INPP5F	NM_014937.3		5,65,6183	A1A1,A1R,RR		0.8489,0.1174,0.5997				75,12431				SO:0001628	intergenic_variant	22876	exon20			.	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		10.37:g.121587063_121587065delCTT		Somatic	157	.	.		WXS	Illumina HiSeq	Phase_I	129	37	0.287	NM_014937	B3KSP7|Q6IA56|Q9BVT9|Q9H916	In_Frame_Del	DEL	ENST00000360003.3	37	CCDS7617.1																																																																																			CTT|0.994;-|0.006	0.006	strong		0.493	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		-	121587065	CTT	-	121587063	6	5	23	0	1	1	0	1	0	0	0	0	7758	681	24	0		0	INPP5F	10	121587063	IGR	DEL	CTT	TCGA-GR-7353-01A-11D-2210-10	767887	121587063	13947684	2582	19038										
WDR11	55717	hgsc.bcm.edu	37	chr10	122649482	122649482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaatcaaaaattaatagcAatgtacaatgatggagctga	9	4	1	2	rs2289337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:122649482A>G	ENST00000263461.6	+	18	2550	c.2304A>G	c.(2302-2304)gcA>gcG	p.A768A	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.A768A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AATTAATAGCAATGTACAATG	0.398													A|||	987	0.197085	0.2579	0.1628	5008	,	,		15097	0.0962		0.2207	False		,,,				2504	0.2188				p.A768A		Atlas-SNP	.											WDR11,NS,carcinoma,0,1	WDR11	95	1	1	Substitution - coding silent(1)	stomach(1)	c.A2304G						PASS	.	A		1230,3176	420.2+/-338.9	180,870,1153	113	107	109		2304	-2.9	1	10	dbSNP_100	109	1909,6691	338.5+/-322.8	216,1477,2607	yes	coding-synonymous	WDR11	NM_018117.11		396,2347,3760	GG,GA,AA		22.1977,27.9165,24.135		768/1225	122649482	3139,9867	2203	4300	6503	SO:0001819	synonymous_variant	55717	exon18			AATAGCAATGTAC	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2304A>G	10.37:g.122649482A>G		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	63	21	0.333333	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																			T|0.005;G|0.229	0.229	strong		0.398	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			G	122649482	A	G	122649482	2	3	23	1	0	0	0	0	0	0	0	1	17270	117	5	2		2	WDR11	10	122649482	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1062419	122649482	12885265	2583	19039										
ATE1	11101	hgsc.bcm.edu	37	chr10	123549691	123549691	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccaaacatacctgcttcTgggtcctggttgaaacggca	10	12	1	1	rs35350755	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:123549691T>G	ENST00000224652.6	-	11	1456	c.1371A>C	c.(1369-1371)ccA>ccC	p.P457P	ATE1_ENST00000369040.3_Silent_p.P361P|ATE1_ENST00000369043.3_Silent_p.P457P|ATE1_ENST00000543447.1_Silent_p.P342P|ATE1_ENST00000540606.1_Silent_p.P450P|ATE1_ENST00000535655.1_Silent_p.P158P	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	457					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TACCTGCTTCTGGGTCCTGGT	0.483													T|||	2512	0.501597	0.4879	0.4813	5008	,	,		20044	0.5387		0.4284	False		,,,				2504	0.5716				p.P457P		Atlas-SNP	.											.	ATE1	67	.	0			c.A1371C						PASS	.	T	,	2112,2294	576.7+/-384.3	511,1090,602	110	110	110		1371,1371	-8.7	0.8	10	dbSNP_126	110	3825,4775	539.9+/-383.7	856,2113,1331	no	coding-synonymous,coding-synonymous	ATE1	NM_001001976.1,NM_007041.2	,	1367,3203,1933	GG,GT,TT		44.4767,47.9346,45.6482	,	457/519,457/519	123549691	5937,7069	2203	4300	6503	SO:0001819	synonymous_variant	11101	exon11			TGCTTCTGGGTCC	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1371A>C	10.37:g.123549691T>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	111	52	0.468468	NM_001001976	O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	CCDS31300.1																																																																																			T|0.544;G|0.456	0.456	strong		0.483	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		G	123549691	T	G	123549691	2	3	23	1	0	0	0	0	0	0	0	1	1078	1567	55	5		5	ATE1	10	123549691	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	900209	123549691	11985056	2584	19040										
TACC2	10579	hgsc.bcm.edu	37	chr10	123846252	123846252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagacttcagggagcacatcGccaagatcttcgagaagcct	10	12	2	3	rs201709460		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:123846252G>A	ENST00000369005.1	+	4	4577	c.4237G>A	c.(4237-4239)Gcc>Acc	p.A1413T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1413T|TACC2_ENST00000453444.2_Missense_Mutation_p.A1413T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1413T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A1413T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1413					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCACATCGCCAAGATCTT	0.592													G|||	0	0.0	0.0	0.0	5008	,	,		19162	0.0		0.0	False		,,,				2504	0.0				p.A1413T		Atlas-SNP	.											.	TACC2	271	.	0			c.G4237A						PASS	.	G	,THR/ALA	0,4406		0,0,2203	70	67	68		,4237	4.2	1	10		68	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	TACC2	NM_206861.1,NM_206862.2	,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1413/2949	123846252	1,13005	2203	4300	6503	SO:0001583	missense	10579	exon4			CACATCGCCAAGA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4237G>A	10.37:g.123846252G>A	ENSP00000358001:p.Ala1413Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	119	51	0.428571	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.835	-0.035002	0.07543	0.0	1.16E-4	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02301	4.35;4.46;4.37;4.35;4.46	5.27	4.15	0.48705	.	0.234704	0.22121	N	0.064340	T	0.00936	0.0031	N	0.02539	-0.55	0.22280	N	0.999238	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.47724	-0.9095	10	0.02654	T	1	-6.9253	7.1361	0.25529	0.8892:0.0:0.1108:0.0	.	1413;1413;1413	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	1413;1413;1413;1413;1413;1403	ENSP00000358001:A1413T;ENSP00000424467:A1413T;ENSP00000427618:A1413T;ENSP00000334280:A1413T;ENSP00000395048:A1413T	ENSP00000334280:A1413T	A	+	1	0	TACC2	123836242	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.191000	0.50981	0.855000	0.35359	0.549000	0.68633	GCC	G|0.999;A|0.001	0.001	strong		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123846252	G	A	123846252	3	1	23	1	0	0	0	0	1	0	0	0	15499	1087	38	1	4247	1	TACC2	10	123846252	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	296561	123846252	11688495	2585	19041										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124036328	124036328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaagctcggctggaacgccGggtcactggctcaaccaacc	11	15	2	0	rs11200524	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124036328G>A	ENST00000260723.4	+	3	292	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	BTBD16_ENST00000368994.2_Missense_Mutation_p.R15Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	14								p.R14Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CTGGAACGCCGGGTCACTGGC	0.473													G|||	431	0.0860623	0.0015	0.2017	5008	,	,		19105	0.2173		0.0298	False		,,,				2504	0.0409				p.R14Q		Atlas-SNP	.											BTBD16,NS,carcinoma,0,1	BTBD16	44	1	1	Substitution - Missense(1)	stomach(1)	c.G41A						scavenged	.	G	GLN/ARG	39,4367	43.8+/-77.6	1,37,2165	94	94	94		41	2.1	0.1	10	dbSNP_120	94	223,8377	91.6+/-153.7	5,213,4082	yes	missense	BTBD16	NM_144587.2	43	6,250,6247	AA,AG,GG		2.593,0.8852,2.0145	benign	14/507	124036328	262,12744	2203	4300	6503	SO:0001583	missense	118663	exon3			AACGCCGGGTCAC	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.41G>A	10.37:g.124036328G>A	ENSP00000260723:p.Arg14Gln	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	137	68	0.49635	NM_144587	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	210	0.09615384615384616	2	0.0040650406504065045	61	0.1685082872928177	124	0.21678321678321677	23	0.030343007915567283	G	7.086	0.571149	0.13623	0.008852	0.02593	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18960	2.18;2.18	4.9	2.07	0.26955	.	0.253869	0.27302	N	0.019989	T	0.00012	0.0000	M	0.72479	2.2	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.11690	-1.0577	9	0.42905	T	0.14	-20.4823	6.708	0.23262	0.2888:0.0:0.7112:0.0	rs11200524	15;14	Q32M84-2;Q32M84	.;BTBDG_HUMAN	Q	14;15	ENSP00000260723:R14Q;ENSP00000357990:R15Q	ENSP00000260723:R14Q	R	+	2	0	BTBD16	124026318	0.000000	0.05858	0.065000	0.19835	0.004000	0.04260	-0.711000	0.05019	0.371000	0.24564	-0.141000	0.14075	CGG	G|0.959;A|0.041	0.041	strong		0.473	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		A	124036328	G	A	124036328	3	1	23	1	0	0	0	0	1	0	0	0	1541	1116	39	1	47	1	BTBD16	10	124036328	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	190076	124036328	11498419	2586	19042										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124066731	124066731	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctttagtgaattccatctTctgaaaacaatgcttttgtg	6	8	2	2	rs7100442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124066731T>G	ENST00000260723.4	+	10	1070	c.819T>G	c.(817-819)ctT>ctG	p.L273L	BTBD16_ENST00000368994.2_Silent_p.L274L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	273										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATTCCATCTTCTGAAAACAA	0.348													T|||	648	0.129393	0.1263	0.2118	5008	,	,		20692	0.248		0.0338	False		,,,				2504	0.0511				p.L273L		Atlas-SNP	.											.	BTBD16	44	.	0			c.T819G						PASS	.	T		556,3850	247.5+/-255.7	41,474,1688	116	118	117		819	-1.2	0.9	10	dbSNP_116	117	247,8353	97.7+/-159.3	4,239,4057	no	coding-synonymous	BTBD16	NM_144587.2		45,713,5745	GG,GT,TT		2.8721,12.6192,6.1741		273/507	124066731	803,12203	2203	4300	6503	SO:0001819	synonymous_variant	118663	exon10			CCATCTTCTGAAA	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.819T>G	10.37:g.124066731T>G		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	149	70	0.469799	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																			T|0.906;G|0.094	0.094	strong		0.348	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		G	124066731	T	G	124066731	2	3	23	1	0	0	0	0	0	0	0	1	1541	1770	62	5		5	BTBD16	10	124066731	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30403	124066731	11468016	2587	19043										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124089075	124089075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctgcttgcgtctgcacgGcatcaccaaaggtaagcccc	9	16	3	0	rs986178|rs58204486	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124089075G>A	ENST00000260723.4	+	11	1243	c.992G>A	c.(991-993)gGc>gAc	p.G331D	BTBD16_ENST00000368994.2_Missense_Mutation_p.G332D	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	331			G -> D (in dbSNP:rs986178).							breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CGTCTGCACGGCATCACCAAA	0.612													G|||	480	0.0958466	0.0113	0.0764	5008	,	,		17173	0.1687		0.1044	False		,,,				2504	0.1401				p.G331D		Atlas-SNP	.											BTBD16,NS,carcinoma,0,1	BTBD16	44	1	0			c.G992A						scavenged	.	G	ASP/GLY	116,4290	89.2+/-127.9	3,110,2090	108	95	99		992	1.8	0.2	10	dbSNP_86	99	1093,7507	228.4+/-263.5	69,955,3276	yes	missense	BTBD16	NM_144587.2	94	72,1065,5366	AA,AG,GG		12.7093,2.6328,9.2957	probably-damaging	331/507	124089075	1209,11797	2203	4300	6503	SO:0001583	missense	118663	exon11			TGCACGGCATCAC	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.992G>A	10.37:g.124089075G>A	ENSP00000260723:p.Gly331Asp	Somatic	50	1	0.02		WXS	Illumina HiSeq	Phase_I	52	22	0.423077	NM_144587	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	207	0.09478021978021978	7	0.014227642276422764	33	0.09116022099447514	88	0.15384615384615385	79	0.10422163588390501	G	5.362	0.252126	0.10185	0.026328	0.127093	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19250	2.16;2.16	5.77	1.79	0.24919	.	0.954977	0.08657	N	0.913061	T	0.00210	0.0006	L	0.56769	1.78	0.35328	P	0.21467999999999998	D;D	0.64830	0.994;0.994	P;P	0.60886	0.88;0.88	T	0.06232	-1.0838	9	0.36615	T	0.2	-4.1952	7.2653	0.26226	0.3742:0.0:0.6258:0.0	rs986178;rs60773779;rs986178	332;331	Q32M84-2;Q32M84	.;BTBDG_HUMAN	D	331;332	ENSP00000260723:G331D;ENSP00000357990:G332D	ENSP00000260723:G331D	G	+	2	0	BTBD16	124079065	0.363000	0.24989	0.161000	0.22692	0.039000	0.13416	0.487000	0.22356	0.062000	0.16340	-0.137000	0.14449	GGC	G|0.902;A|0.098	0.098	strong		0.612	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		A	124089075	G	A	124089075	3	1	23	1	0	0	0	0	1	0	0	0	1541	1203	42	2	1030	2	BTBD16	10	124089075	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	22344	124089075	11445672	2588	19044										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124094467	124094467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaagggactcaaacatgaTactacctcttatagttttta	5	7	2	1	rs10887135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124094467T>C	ENST00000260723.4	+	14	1487	c.1236T>C	c.(1234-1236)gaT>gaC	p.D412D	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Silent_p.D413D	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	412										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCAAACATGATACTACCTCTT	0.333													T|||	458	0.0914537	0.0045	0.1988	5008	,	,		18668	0.2312		0.0308	False		,,,				2504	0.0511				p.D412D		Atlas-SNP	.											.	BTBD16	44	.	0			c.T1236C						PASS	.	T		48,4356	48.9+/-83.8	2,44,2156	114	116	116		1236	-4.5	0	10	dbSNP_120	116	249,8349	98.6+/-160.1	5,239,4055	no	coding-synonymous	BTBD16	NM_144587.2		7,283,6211	CC,CT,TT		2.896,1.0899,2.2843		412/507	124094467	297,12705	2202	4299	6501	SO:0001819	synonymous_variant	118663	exon14			ACATGATACTACC	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1236T>C	10.37:g.124094467T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																			T|0.943;C|0.057	0.057	strong		0.333	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		C	124094467	T	C	124094467	2	2	23	1	0	0	0	0	0	0	0	1	1541	1403	49	2		2	BTBD16	10	124094467	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5392	124094467	11440280	2589	19045										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124096041	124096041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagacctggaatctccctcTgcggtctacgagcacaacca	8	15	3	1	rs1129973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124096041T>C	ENST00000260723.4	+	15	1547	c.1296T>C	c.(1294-1296)tcT>tcC	p.S432S	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Silent_p.S433S	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	432								p.S432S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATCTCCCTCTGCGGTCTACG	0.557													C|||	2302	0.459665	0.3956	0.487	5008	,	,		17801	0.6935		0.327	False		,,,				2504	0.4223				p.S432S		Atlas-SNP	.											BTBD16,NS,lymphoid_neoplasm,0,1	BTBD16	44	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.T1296C						scavenged	.	C		1588,2818	663.4+/-401.2	292,1004,907	69	59	63		1296	-2.8	0	10	dbSNP_86	63	2771,5829	677.6+/-403.4	446,1879,1975	no	coding-synonymous	BTBD16	NM_144587.2		738,2883,2882	CC,CT,TT		32.2209,36.0418,33.5153		432/507	124096041	4359,8647	2203	4300	6503	SO:0001819	synonymous_variant	118663	exon15			TCCCTCTGCGGTC	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1296T>C	10.37:g.124096041T>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	118	51	0.432203	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																			T|0.621;C|0.379	0.379	strong		0.557	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		C	124096041	T	C	124096041	2	2	23	1	0	0	0	0	0	0	0	1	1541	1567	55	3		3	BTBD16	10	124096041	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1574	124096041	11438706	2590	19046										
PLEKHA1	59338	hgsc.bcm.edu	37	chr10	124189197	124189197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgtcctaccaacgcagccAccgccacctcacattccaca	4	21	1	0	rs1045216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124189197A>G	ENST00000368990.3	+	12	1089	c.958A>G	c.(958-960)Acc>Gcc	p.T320A	PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Silent_p.P333P|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.T320A|PLEKHA1_ENST00000368988.1_Silent_p.P333P	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	320			T -> A (in dbSNP:rs1045216). {ECO:0000269|PubMed:11001876, ECO:0000269|Ref.4}.		androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAACGCAGCCACCGCCACCTC	0.542													G|||	3740	0.746805	0.8321	0.745	5008	,	,		17071	0.8155		0.5895	False		,,,				2504	0.7239				p.T320A		Atlas-SNP	.											.	PLEKHA1	33	.	0			c.A958G						PASS	.	G	ALA/THR,,ALA/THR	3495,911	349.0+/-310.2	1396,703,104	86	77	80		958,,958	4.8	0.1	10	dbSNP_86	80	5183,3417	504.5+/-376.2	1558,2067,675	yes	missense,utr-3,missense	PLEKHA1	NM_001001974.2,NM_001195608.1,NM_021622.4	58,,58	2954,2770,779	GG,GA,AA		39.7326,20.6764,33.2769	benign,,benign	320/405,,320/405	124189197	8678,4328	2203	4300	6503	SO:0001583	missense	59338	exon12			GCAGCCACCGCCA	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.958A>G	10.37:g.124189197A>G	ENSP00000357986:p.Thr320Ala	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	104	102	0.980769	NM_021622	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	1571	0.7193223443223443	395	0.8028455284552846	265	0.7320441988950276	457	0.798951048951049	454	0.5989445910290238	G	1.391	-0.580748	0.03854	0.793236	0.602674	ENSG00000107679	ENST00000368990;ENST00000409427;ENST00000433307	T;T	0.05319	3.46;3.46	5.71	4.81	0.61882	.	0.968694	0.08615	N	0.919389	T	0.00012	0.0000	N	0.02539	-0.55	0.09310	P	0.9999999999927212	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	9	0.02654	T	1	-2.568	6.7268	0.23361	0.2111:0.1282:0.6607:0.0	rs1045216;rs3185078;rs52798853;rs60697358;rs1045216	320	Q9HB21	PKHA1_HUMAN	A	320	ENSP00000357986:T320A;ENSP00000394416:T320A	ENSP00000357986:T320A	T	+	1	0	PLEKHA1	124179187	0.913000	0.31002	0.134000	0.22075	0.197000	0.23852	1.192000	0.32150	0.899000	0.36444	-0.128000	0.14901	ACC	A|0.314;G|0.686	0.686	strong		0.542	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		G	124189197	A	G	124189197	3	3	23	1	0	0	0	0	1	0	0	0	12055	159	6	2	1000	2	PLEKHA1	10	124189197	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	93156	124189197	11345550	2591	19047										
HTRA1	5654	hgsc.bcm.edu	37	chr10	124249118	124249118	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggatgagaaagcagacatCgcactcatcaaaattgacca	9	9	2	3	rs17624021	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124249118C>T	ENST00000368984.3	+	3	881	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	251	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAGCAGACATCGCACTCATCA	0.527													C|||	116	0.0231629	0.0219	0.0173	5008	,	,		18824	0.001		0.0398	False		,,,				2504	0.0348				p.I251I		Atlas-SNP	.											.	HTRA1	40	.	0			c.C753T						PASS	.	C		126,4280	92.5+/-131.2	2,122,2079	118	90	100	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	753	-3.4	0.3	10	dbSNP_123	100	431,8169	132.5+/-190.1	12,407,3881	no	coding-synonymous	HTRA1	NM_002775.4		14,529,5960	TT,TC,CC		5.0116,2.8597,4.2826		251/481	124249118	557,12449	2203	4300	6503	SO:0001819	synonymous_variant	5654	exon3			AGACATCGCACTC	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.753C>T	10.37:g.124249118C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	103	55	0.533981	NM_002775	D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	CCDS7630.1																																																																																			C|0.966;T|0.034	0.034	strong		0.527	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		T	124249118	C	T	124249118	2	4	23	1	0	0	0	0	0	0	0	1	7453	874	31	1		1	HTRA1	10	124249118	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	59921	124249118	11285629	2592	19048										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124351974	124351974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccccaggaaatgcccggtTtggccagggctcaggaccca	14	14	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124351974T>G	ENST00000338354.3	+	20	2469	c.2363T>G	c.(2362-2364)tTt>tGt	p.F788C	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.F778C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.F788C|DMBT1_ENST00000344338.3_Missense_Mutation_p.F778C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	788	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGCCCGGTTTGGCCAGGGC	0.617																																					p.F788C	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											.	DMBT1	677	.	0			c.T2363G						PASS	.						172	135	147					10																	124351974		1994	4114	6108	SO:0001583	missense	1755	exon20			CCCGGTTTGGCCA		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2363T>G	10.37:g.124351974T>G	ENSP00000342210:p.Phe788Cys	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	78	26	0.333333	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	T	8.174	0.792281	0.16258	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	3.86	3.86	0.44501	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.84547	0.5496	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;0.999	D	0.86955	0.2088	9	0.87932	D	0	.	8.6056	0.33771	0.1713:0.0:0.0:0.8286	.	549;788;778;788	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	C	788;788;788;788;788;788;778;788;778	ENSP00000342210:F788C;ENSP00000343175:F778C;ENSP00000357905:F788C;ENSP00000357951:F778C	ENSP00000342210:F788C	F	+	2	0	DMBT1	124341964	1.000000	0.71417	0.015000	0.15790	0.070000	0.16714	3.795000	0.55499	1.525000	0.49052	0.456000	0.33151	TTT	.	.	none		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124351974	T	G	124351974	3	3	23	1	0	0	0	0	1	0	0	0	4577	1841	64	5	2441	5	DMBT1	10	124351974	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	102856	124351974	11182773	2593	19049										
DMBT1	1755	hgsc.bcm.edu	37	chr10	124358498	124358498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcagggctcaggacccatTgtcctggatgatgtgcgctg	15	10	2	1	rs144489236	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124358498T>G	ENST00000338354.3	+	26	3271	c.3165T>G	c.(3163-3165)atT>atG	p.I1055M	DMBT1_ENST00000368956.2_Missense_Mutation_p.I556M|DMBT1_ENST00000368955.3_Missense_Mutation_p.I1045M|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.I556M|DMBT1_ENST00000368909.3_Missense_Mutation_p.I1055M|DMBT1_ENST00000344338.3_Missense_Mutation_p.I1045M			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1055	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGGACCCATTGTCCTGGATG	0.597													t|||	100	0.0199681	0.0023	0.0706	5008	,	,		19043	0.001		0.0427	False		,,,				2504	0.0041				p.I1055M	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											DMBT1_ENST00000368915,NS,carcinoma,0,3	DMBT1	677	3	0			c.T3165G						scavenged	.	T	MET/ILE,MET/ILE,MET/ILE	22,3952		0,22,1965	148	145	146		1668,3165,3135	-0.3	0	10	dbSNP_134	146	259,8081		0,259,3911	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	10,10,10	0,281,5876	GG,GT,TT		3.1055,0.5536,2.282	probably-damaging,probably-damaging,probably-damaging	556/1786,1055/2414,1045/2404	124358498	281,12033	1987	4170	6157	SO:0001583	missense	1755	exon26			ACCCATTGTCCTG		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3165T>G	10.37:g.124358498T>G	ENSP00000342210:p.Ile1055Met	Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	110	68	0.618182	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		57	0.0260989010989011	3	0.006097560975609756	18	0.049723756906077346	1	0.0017482517482517483	35	0.04617414248021108	T	15.03	2.713206	0.48517	0.005536	0.031055	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	3.57	-0.309	0.12769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.35615	U	0.003084	T	0.40595	0.1123	M	0.93638	3.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.999	D;D;D;D;D	0.87578	0.998;0.972;0.998;0.947;0.969	T	0.67337	-0.5696	10	0.72032	D	0.01	.	8.7996	0.34901	0.0:0.3675:0.0:0.6325	.	562;1055;556;1045;1055	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	M	1055;1055;1055;1055;1055;1055;556;1045;556;556;1055;1045;556	ENSP00000342210:I1055M;ENSP00000343175:I1045M;ENSP00000327747:I556M;ENSP00000357905:I1055M;ENSP00000357951:I1045M;ENSP00000357952:I556M	ENSP00000331522:I556M	I	+	3	3	DMBT1	124348488	0.000000	0.05858	0.006000	0.13384	0.155000	0.21991	-2.933000	0.00687	-0.009000	0.14296	0.456000	0.33151	ATT	T|0.976;G|0.024	0.024	strong		0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124358498	T	G	124358498	3	3	23	1	0	0	0	0	1	0	0	0	4577	1800	63	5	3267	5	DMBT1	10	124358498	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6524	124358498	11176249	2594	19050										
ACADSB	36	hgsc.bcm.edu	37	chr10	124800853	124800853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggatcagcagtgctgagcaCgcagggctctttctggtgat	14	9	3	2	rs1140591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:124800853C>T	ENST00000358776.4	+	5	653	c.639C>T	c.(637-639)caC>caT	p.H213H	ACADSB_ENST00000368869.4_Silent_p.H111H|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	213					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GTGCTGAGCACGCAGGGCTCT	0.413													C|||	1141	0.227835	0.2163	0.2176	5008	,	,		17755	0.1419		0.2296	False		,,,				2504	0.3374				p.H213H		Atlas-SNP	.											.	ACADSB	45	.	0			c.C639T						PASS	.	C		950,3456	362.1+/-316.0	103,744,1356	143	138	139		639	-9.7	0	10	dbSNP_86	139	2017,6583	353.4+/-329.1	222,1573,2505	no	coding-synonymous	ACADSB	NM_001609.3		325,2317,3861	TT,TC,CC		23.4535,21.5615,22.8125		213/433	124800853	2967,10039	2203	4300	6503	SO:0001819	synonymous_variant	36	exon5			TGAGCACGCAGGG	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.639C>T	10.37:g.124800853C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	128	76	0.59375	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	CCDS7634.1																																																																																			A|0.000;C|0.783;G|0.000;T|0.217	0.217	strong		0.413	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		T	124800853	C	T	124800853	2	4	23	1	0	0	0	0	0	0	0	1	115	535	19	1		1	ACADSB	10	124800853	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	442355	124800853	10733894	2595	19051										
ADAM12	8038	hgsc.bcm.edu	37	chr10	127753388	127753388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgtacctggtccccagagCgtgacacactgctgctcgtg	11	15	0	2	rs2279091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:127753388C>T	ENST00000368679.4	-	14	1914	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	ADAM12_ENST00000368676.4_Silent_p.T535T|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	535	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCCCAGAGCGTGACACACT	0.607													C|||	378	0.0754792	0.0651	0.072	5008	,	,		18889	0.0595		0.1243	False		,,,				2504	0.0583				p.T535T		Atlas-SNP	.											.	ADAM12	388	.	0			c.G1605A						PASS	.	C	,	302,4104		6,290,1907	84	59	67		1605,1605	-10.2	0.1	10	dbSNP_100	67	988,7610		62,864,3373	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	68,1154,5280	TT,TC,CC		11.491,6.8543,9.92	,	535/910,535/739	127753388	1290,11714	2203	4299	6502	SO:0001819	synonymous_variant	8038	exon14			CCAGAGCGTGACA	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1605G>A	10.37:g.127753388C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																			C|0.908;T|0.092	0.092	strong		0.607	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127753388	C	T	127753388	2	4	23	1	0	0	0	0	0	0	0	1	236	755	27	1		1	ADAM12	10	127753388	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2952535	127753388	7781359	2596	19052										
C10orf90	118611	hgsc.bcm.edu	37	chr10	128193368	128193368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatggatgcaaaccctctgCgggggcccccacagggtctc	13	14	2	1	rs11245008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:128193368C>T	ENST00000284694.7	-	3	521	c.401G>A	c.(400-402)cGc>cAc	p.R134H	C10orf90_ENST00000454341.1_Missense_Mutation_p.R134H|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.R87H|C10orf90_ENST00000544758.1_Missense_Mutation_p.R231H|C10orf90_ENST00000356858.3_Missense_Mutation_p.R87H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	134	Required for interaction with HDAC1. {ECO:0000250}.		R -> H (in dbSNP:rs11245008).		mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AAACCCTCTGCGGGGGCCCCC	0.672											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1077	0.215056	0.4592	0.1599	5008	,	,		14007	0.129		0.1153	False		,,,				2504	0.1155				p.R134H		Atlas-SNP	.											.	C10orf90	121	.	0			c.G401A						PASS	.	C	HIS/ARG	1634,2730		321,992,869	28	33	32		401	-9.9	0	10	dbSNP_120	32	1103,7457		75,953,3252	yes	missense	C10orf90	NM_001004298.2	29	396,1945,4121	TT,TC,CC		12.8855,37.4427,21.1777	benign	134/700	128193368	2737,10187	2182	4280	6462	SO:0001583	missense	118611	exon3			CCTCTGCGGGGGC	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.401G>A	10.37:g.128193368C>T	ENSP00000284694:p.Arg134His	Somatic	104	0	0	1563	WXS	Illumina HiSeq	Phase_I	94	57	0.606383	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	449	0.20558608058608058	217	0.4410569105691057	59	0.16298342541436464	85	0.1486013986013986	88	0.11609498680738786	C	9.636	1.137739	0.21123	0.374427	0.128855	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.26810	2.01;2.01;2.03;2.02;1.71	4.97	-9.93	0.00452	.	1.535690	0.03830	N	0.268998	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B;B;B;B;B	0.18741	0.003;0.008;0.03;0.008;0.008	B;B;B;B;B	0.14578	0.003;0.002;0.011;0.003;0.003	T	0.31052	-0.9957	9	0.30078	T	0.28	-0.0577	11.4554	0.50179	0.0:0.2321:0.1567:0.6112	rs11245008;rs60449744;rs11245008	231;231;87;134;134	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	H	87;134;134;231;134;87;87	ENSP00000284694:R134H;ENSP00000398786:R134H;ENSP00000444369:R231H;ENSP00000405995:R134H;ENSP00000376459:R87H	ENSP00000284694:R134H	R	-	2	0	C10orf90	128183358	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.225000	0.01212	-3.872000	0.00096	-1.421000	0.01109	CGC	C|0.781;T|0.219	0.219	strong		0.672	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		T	128193368	C	T	128193368	3	4	23	1	0	0	0	0	1	0	0	0	1623	768	27	1	1726	1	C10orf90	10	128193368	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	439980	128193368	7341379	2597	19053										
FAM196A	642938	hgsc.bcm.edu	37	chr10	128974621	128974621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttccacttcactctccgaCgttgtgagtatgcatttgcc	9	12	2	1	rs2489386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:128974621C>T	ENST00000522781.1	-	4	594	c.39G>A	c.(37-39)acG>acA	p.T13T	FAM196A_ENST00000424811.2_Silent_p.T13T|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	13										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACTCTCCGACGTTGTGAGTA	0.537													c|||	2647	0.528554	0.2436	0.5634	5008	,	,		17793	0.7401		0.5875	False		,,,				2504	0.6104				p.T13T		Atlas-SNP	.											.	FAM196A	55	.	0			c.G39A						PASS	.	T	,	1262,3144		189,884,1130	91	95	94		39,	-7.7	0	10	dbSNP_100	94	5012,3586		1476,2060,763	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	1665,2944,1893	TT,TC,CC		41.7074,28.6428,48.2467	,	13/480,	128974621	6274,6730	2203	4299	6502	SO:0001819	synonymous_variant	642938	exon4			CTCCGACGTTGTG		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.39G>A	10.37:g.128974621C>T		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	61	58	0.95082	NM_001039762	B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	CCDS31312.1																																																																																			C|0.469;T|0.531	0.531	strong		0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		T	128974621	C	T	128974621	2	4	23	1	0	0	0	0	0	0	0	1	5528	523	19	1		1	FAM196A	10	128974621	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	781253	128974621	6560126	2598	19054										
DOCK1	1793	hgsc.bcm.edu	37	chr10	129046371	129046371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaaatgaggactgatgtgGtagtaagtgtccctttcacc	12	7	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129046371G>A	ENST00000280333.6	+	28	2993	c.2884G>A	c.(2884-2886)Gta>Ata	p.V962I	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	962					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACTGATGTGGTAGTAAGTGT	0.388																																					p.V962I		Atlas-SNP	.											.	DOCK1	188	.	0			c.G2884A						PASS	.						112	103	106					10																	129046371		1898	4109	6007	SO:0001583	missense	1793	exon28			GATGTGGTAGTAA	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2884G>A	10.37:g.129046371G>A	ENSP00000280333:p.Val962Ile	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	186	85	0.456989	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	11.06	1.528362	0.27299	.	.	ENSG00000150760	ENST00000280333	T	0.21734	1.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.10733	0.035	0.80722	D	1	B;B	0.24426	0.01;0.103	B;B	0.18871	0.015;0.023	T	0.11084	-1.0602	10	0.07030	T	0.85	.	19.1025	0.93279	0.0:0.0:1.0:0.0	.	962;962	B2RUU3;Q14185	.;DOCK1_HUMAN	I	962	ENSP00000280333:V962I	ENSP00000280333:V962I	V	+	1	0	DOCK1	128936361	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	6.639000	0.74314	2.491000	0.84063	0.563000	0.77884	GTA	.	.	none		0.388	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	129046371	G	A	129046371	3	1	23	1	0	0	0	0	1	0	0	0	4684	1261	44	2	2994	2	DOCK1	10	129046371	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	71750	129046371	6488376	2599	19055										
MKI67	4288	hgsc.bcm.edu	37	chr10	129899778	129899778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaagcaccttttgttctcaGtgactttgtctctaggtatg	8	9	3	1	rs11106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129899778G>C	ENST00000368654.3	-	14	9824	c.9449C>G	c.(9448-9450)aCt>aGt	p.T3150S	MKI67_ENST00000368653.3_Missense_Mutation_p.T2790S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3150			T -> S (in dbSNP:rs11106).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTTCTCAGTGACTTTGTC	0.498													C|||	2123	0.423922	0.4561	0.5432	5008	,	,		18870	0.3859		0.4264	False		,,,				2504	0.3323				p.T3150S		Atlas-SNP	.											.	MKI67	363	.	0			c.C9449G						PASS	.	C	SER/THR,SER/THR	1961,2445	621.5+/-393.8	446,1069,688	178	169	172		8369,9449	-1.5	0	10	dbSNP_52	172	3659,4941	623.1+/-397.4	781,2097,1422	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	58,58	1227,3166,2110	CC,CG,GG		42.5465,44.5075,43.2108	benign,benign	2790/2897,3150/3257	129899778	5620,7386	2203	4300	6503	SO:0001583	missense	4288	exon14			TTCTCAGTGACTT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9449C>G	10.37:g.129899778G>C	ENSP00000357643:p.Thr3150Ser	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	217	103	0.474654	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	941	0.4308608058608059	190	0.3861788617886179	187	0.5165745856353591	239	0.4178321678321678	325	0.4287598944591029	C	0.019	-1.458143	0.01071	0.445075	0.425465	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01178	5.27;5.22	2.91	-1.54	0.08584	.	1.520690	0.03664	N	0.243062	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30765	-0.9967	9	0.07644	T	0.81	.	3.3231	0.07057	0.1586:0.2004:0.513:0.1281	rs11106;rs3191123;rs17804362;rs52813625;rs58399763;rs11106	2790;3150	P46013-2;P46013	.;KI67_HUMAN	S	3150;2790;3149	ENSP00000357643:T3150S;ENSP00000357642:T2790S	ENSP00000357642:T2790S	T	-	2	0	MKI67	129789768	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.919000	0.01572	-0.713000	0.04981	-0.215000	0.12644	ACT	G|0.569;C|0.431	0.431	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129899778	G	C	129899778	3	2	23	1	0	0	0	0	1	0	0	0	9598	1029	36	4	329	4	MKI67	10	129899778	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	853407	129899778	5634969	2600	19056										
MKI67	4288	hgsc.bcm.edu	37	chr10	129900918	129900918	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgttgctgttcagctcttcCgcaggttcaattctttttgc	8	11	4	0	rs201914667	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129900918C>A	ENST00000368654.3	-	13	9561	c.9186G>T	c.(9184-9186)gcG>gcT	p.A3062A	MKI67_ENST00000368653.3_Silent_p.A2702A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3062					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGCTCTTCCGCAGGTTCAA	0.458																																					p.A3062A		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	0			c.G9186T						scavenged	.						244	222	230					10																	129900918		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			CTCTTCCGCAGGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9186G>T	10.37:g.129900918C>A		Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	274	3	0.0109489	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			C|1.000;T|0.000	.	alt		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129900918	C	A	129900918	2	1	23	1	0	0	0	0	0	0	0	1	9598	639	23	4		4	MKI67	10	129900918	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1140	129900918	5633829	2601	19057										
MKI67	4288	hgsc.bcm.edu	37	chr10	129902281	129902281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcttttacttctttcctgGgacgtgtcttggggcatctc	9	12	4	0	rs1063535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129902281G>A	ENST00000368654.3	-	13	8198	c.7823C>T	c.(7822-7824)cCc>cTc	p.P2608L	MKI67_ENST00000368653.3_Missense_Mutation_p.P2248L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2608	16 X 122 AA approximate repeats.		P -> L (in dbSNP:rs1063535).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTTTCCTGGGACGTGTCTT	0.483													A|||	2317	0.46266	0.4607	0.6081	5008	,	,		21089	0.378		0.5209	False		,,,				2504	0.3896				p.P2608L		Atlas-SNP	.											.	MKI67	363	.	0			c.C7823T						PASS	.	A	LEU/PRO,LEU/PRO	2021,2385	613.3+/-392.2	472,1077,654	152	137	142		6743,7823	-4	0	10	dbSNP_86	142	4473,4127	563.8+/-388.2	1163,2147,990	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	98,98	1635,3224,1644	AA,AG,GG		47.9884,45.8693,49.9308	benign,benign	2248/2897,2608/3257	129902281	6494,6512	2203	4300	6503	SO:0001583	missense	4288	exon13			TTCCTGGGACGTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7823C>T	10.37:g.129902281G>A	ENSP00000357643:p.Pro2608Leu	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	138	63	0.456522	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	1037	0.4748168498168498	198	0.4024390243902439	210	0.580110497237569	234	0.4090909090909091	395	0.521108179419525	A	5.806	0.333006	0.11013	0.458693	0.520116	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01414	4.92;4.92	2.27	-4.04	0.04010	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16837	-1.0389	8	0.27082	T	0.32	.	1.3429	0.02157	0.1868:0.339:0.3053:0.1689	rs1063535;rs3204563;rs52818135;rs60716258;rs1063535	2607;2248;2608	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2608;2248;2607	ENSP00000357643:P2608L;ENSP00000357642:P2248L	ENSP00000357642:P2248L	P	-	2	0	MKI67	129792271	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.074000	0.14662	-1.587000	0.01630	-0.360000	0.07572	CCC	G|0.522;A|0.478	0.478	strong		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129902281	G	A	129902281	3	1	23	1	0	0	0	0	1	0	0	0	9598	1232	43	2	1959	2	MKI67	10	129902281	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1363	129902281	5632466	2602	19058										
MKI67	4288	hgsc.bcm.edu	37	chr10	129903016	129903016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctacgtctgctttcctgaggTttctcttgggccgttgcttt	10	11	2	1	rs7071768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129903016T>C	ENST00000368654.3	-	13	7463	c.7088A>G	c.(7087-7089)aAc>aGc	p.N2363S	MKI67_ENST00000368653.3_Missense_Mutation_p.N2003S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2363	16 X 122 AA approximate repeats.		N -> S (in dbSNP:rs7071768).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCTGAGGTTTCTCTTGGG	0.488													C|||	2322	0.463658	0.4607	0.6095	5008	,	,		20346	0.381		0.5219	False		,,,				2504	0.3896				p.N2363S		Atlas-SNP	.											.	MKI67	363	.	0			c.A7088G						PASS	.	C	SER/ASN,SER/ASN	2025,2381	613.1+/-392.1	473,1079,651	363	374	370		6008,7088	-5.4	0	10	dbSNP_116	370	4474,4126	564.3+/-388.3	1162,2150,988	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	46,46	1635,3229,1639	CC,CT,TT		47.9767,45.9601,49.9692	benign,benign	2003/2897,2363/3257	129903016	6499,6507	2203	4300	6503	SO:0001583	missense	4288	exon13			CTGAGGTTTCTCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7088A>G	10.37:g.129903016T>C	ENSP00000357643:p.Asn2363Ser	Somatic	364	1	0.00274725		WXS	Illumina HiSeq	Phase_I	346	167	0.482659	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	1041	0.4766483516483517	198	0.4024390243902439	210	0.580110497237569	236	0.4125874125874126	397	0.5237467018469657	C	0.302	-0.973252	0.02215	0.459601	0.520233	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01629	4.72;4.72	3.21	-5.36	0.02689	.	6.543270	0.00531	N	0.000217	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43925	-0.9361	9	0.05959	T	0.93	.	9.3918	0.38378	0.0:0.1286:0.5136:0.3578	rs7071768;rs16907865;rs7071768	2362;2003;2363	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	2363;2003;2362	ENSP00000357643:N2363S;ENSP00000357642:N2003S	ENSP00000357642:N2003S	N	-	2	0	MKI67	129793006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.572000	0.05881	-1.763000	0.01307	-1.147000	0.01851	AAC	T|0.519;C|0.481	0.481	strong		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129903016	T	C	129903016	3	2	23	1	0	0	0	0	1	0	0	0	9598	1725	60	2	2694	2	MKI67	10	129903016	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	735	129903016	5631731	2603	19059										
MKI67	4288	hgsc.bcm.edu	37	chr10	129903465	129903465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctattttggtagttttctcAtgagtcgtgggcttgtcagt	12	6	2	1	rs2857028	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129903465A>G	ENST00000368654.3	-	13	7014	c.6639T>C	c.(6637-6639)caT>caC	p.H2213H	MKI67_ENST00000368653.3_Silent_p.H1853H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2213	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGTTTTCTCATGAGTCGTGG	0.498													A|||	956	0.190895	0.1172	0.3156	5008	,	,		19117	0.12		0.2704	False		,,,				2504	0.1933				p.H2213H		Atlas-SNP	.											.	MKI67	363	.	0			c.T6639C						PASS	.	A	,	578,3828	254.3+/-259.9	37,504,1662	239	231	233		5559,6639	-0.3	0	10	dbSNP_100	233	2133,6467	366.7+/-334.4	274,1585,2441	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	311,2089,4103	GG,GA,AA		24.8023,13.1185,20.8442	,	1853/2897,2213/3257	129903465	2711,10295	2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			TTTCTCATGAGTC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6639T>C	10.37:g.129903465A>G		Somatic	296	0	0		WXS	Illumina HiSeq	Phase_I	322	179	0.555901	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			T|0.007;G|0.212	0.212	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129903465	A	G	129903465	2	3	23	1	0	0	0	0	0	0	0	1	9598	214	8	2		2	MKI67	10	129903465	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	449	129903465	5631282	2604	19060										
MKI67	4288	hgsc.bcm.edu	37	chr10	129905896	129905896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttcttcagggctgagagcTccttctgtacgtcccttttc	9	13	3	1	rs3740423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129905896T>A	ENST00000368654.3	-	13	4583	c.4208A>T	c.(4207-4209)gAg>gTg	p.E1403V	MKI67_ENST00000368653.3_Missense_Mutation_p.E1043V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1403	16 X 122 AA approximate repeats.		E -> V (in dbSNP:rs3740423).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1403V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTGAGAGCTCCTTCTGTAC	0.498													T|||	701	0.139976	0.0098	0.281	5008	,	,		20464	0.1181		0.1958	False		,,,				2504	0.181				p.E1403V		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - Missense(1)	stomach(1)	c.A4208T						PASS	.	T	VAL/GLU,VAL/GLU	136,4270	96.2+/-134.9	2,132,2069	295	272	280		3128,4208	2.7	0	10	dbSNP_107	280	1574,7026	294.2+/-301.7	146,1282,2872	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	121,121	148,1414,4941	AA,AT,TT		18.3023,3.0867,13.1478	possibly-damaging,possibly-damaging	1043/2897,1403/3257	129905896	1710,11296	2203	4300	6503	SO:0001583	missense	4288	exon13			GAGAGCTCCTTCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4208A>T	10.37:g.129905896T>A	ENSP00000357643:p.Glu1403Val	Somatic	268	1	0.00373134		WXS	Illumina HiSeq	Phase_I	252	122	0.484127	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	342	0.1565934065934066	6	0.012195121951219513	104	0.287292817679558	83	0.1451048951048951	149	0.19656992084432717	T	13.96	2.391928	0.42410	0.030867	0.183023	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.05580	3.42;3.42	3.81	2.66	0.31614	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.80764	0.855;0.994;0.971	T	0.42396	-0.9454	8	0.41790	T	0.15	.	4.0897	0.09963	0.0:0.113:0.2103:0.6767	rs3740423;rs16912224;rs17731403;rs52833862;rs3740423	1402;1043;1403	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	1403;1043;1402	ENSP00000357643:E1403V;ENSP00000357642:E1043V	ENSP00000357642:E1043V	E	-	2	0	MKI67	129795886	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.195000	0.03043	0.650000	0.30769	0.459000	0.35465	GAG	T|0.852;A|0.148	0.148	strong		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129905896	T	A	129905896	3	1	23	1	0	0	0	0	1	0	0	0	9598	1551	54	5	5574	5	MKI67	10	129905896	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2431	129905896	5628851	2605	19061										
MKI67	4288	hgsc.bcm.edu	37	chr10	129906980	129906980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgtccgtgtgaacttgcCgactgctaggagctcttctt	11	11	2	2	rs2152143	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129906980C>T	ENST00000368654.3	-	13	3499	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.G682S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1042	16 X 122 AA approximate repeats.		G -> S (in dbSNP:rs2152143).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G1042S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGAACTTGCCGACTGCTAGG	0.507													C|||	954	0.190495	0.1172	0.3156	5008	,	,		20033	0.1181		0.2704	False		,,,				2504	0.1933				p.G1042S		Atlas-SNP	.											MKI67,NS,carcinoma,0,1	MKI67	363	1	1	Substitution - Missense(1)	stomach(1)	c.G3124A						scavenged	.	C	SER/GLY,SER/GLY	576,3830	253.7+/-259.5	37,502,1664	381	360	367		2044,3124	-4.1	0	10	dbSNP_96	367	2128,6472	366.1+/-334.2	272,1584,2444	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	56,56	309,2086,4108	TT,TC,CC		24.7442,13.0731,20.7904	probably-damaging,probably-damaging	682/2897,1042/3257	129906980	2704,10302	2203	4300	6503	SO:0001583	missense	4288	exon13			ACTTGCCGACTGC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3124G>A	10.37:g.129906980C>T	ENSP00000357643:p.Gly1042Ser	Somatic	326	2	0.00613497		WXS	Illumina HiSeq	Phase_I	287	148	0.515679	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	454	0.2078754578754579	49	0.09959349593495935	120	0.3314917127071823	83	0.1451048951048951	202	0.26649076517150394	C	9.554	1.116707	0.20795	0.130731	0.247442	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02015	4.5;4.5	2.17	-4.11	0.03928	.	.	.	.	.	T	0.00012	0.0000	L	0.31926	0.97	0.80722	P	0.0	B;D;P	0.56287	0.401;0.975;0.955	B;P;B	0.47915	0.03;0.561;0.442	T	0.23726	-1.0180	8	0.09338	T	0.73	.	8.0782	0.30729	0.0:0.4907:0.0:0.5093	rs2152143;rs17731451;rs52803099;rs2152143	1041;682;1042	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1042;682;1041	ENSP00000357643:G1042S;ENSP00000357642:G682S	ENSP00000357642:G682S	G	-	1	0	MKI67	129796970	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.344000	0.02639	-1.001000	0.03434	-0.258000	0.10820	GGC	T|0.208;G|0.007	0.208	strong		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129906980	C	T	129906980	3	4	23	1	0	0	0	0	1	0	0	0	9598	652	23	1	6658	1	MKI67	10	129906980	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1084	129906980	5627767	2606	19062										
MKI67	4288	hgsc.bcm.edu	37	chr10	129909929	129909929	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaaagatcttccttaaagTccattttttggttggaaatg	8	6	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:129909929T>G	ENST00000368654.3	-	11	2615	c.2240A>C	c.(2239-2241)gAc>gCc	p.D747A	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.D387A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	747					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTTAAAGTCCATTTTTTG	0.348																																					p.D747A		Atlas-SNP	.											.	MKI67	363	.	0			c.A2240C						PASS	.						99	97	97					10																	129909929		2203	4300	6503	SO:0001583	missense	4288	exon11			TTAAAGTCCATTT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2240A>C	10.37:g.129909929T>G	ENSP00000357643:p.Asp747Ala	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	67	28	0.41791	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295801	0.60086	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01584	4.77;4.75	5.18	4.01	0.46588	.	0.000000	0.45867	D	0.000331	T	0.06872	0.0175	M	0.64404	1.975	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.973;0.976	T	0.09975	-1.0650	10	0.72032	D	0.01	.	7.2985	0.26408	0.0:0.0771:0.1574:0.7655	.	746;387;747	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	747;387;746;322	ENSP00000357643:D747A;ENSP00000357642:D387A	ENSP00000357641:D322A	D	-	2	0	MKI67	129799919	0.017000	0.18338	0.150000	0.22450	0.353000	0.29299	1.086000	0.30853	0.937000	0.37394	0.533000	0.62120	GAC	.	.	none		0.348	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129909929	T	G	129909929	3	3	23	1	0	0	0	0	1	0	0	0	9598	1667	58	5	7550	5	MKI67	10	129909929	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2949	129909929	5624818	2607	19063										
MGMT	4255	hgsc.bcm.edu	37	chr10	131565064	131565064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttccaggtccccatcctcAtcccgtgccacagagtggtc	8	17	2	1	rs2308321	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:131565064A>G	ENST00000306010.7	+	5	552	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	143					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CCCCATCCTCATCCCGTGCCA	0.622								Direct reversal of damage					A|||	257	0.0513179	0.0061	0.0519	5008	,	,		18377	0.0139		0.1362	False		,,,				2504	0.0634				p.I174V		Atlas-SNP	.											.	MGMT	32	.	0			c.A520G	GRCh37	CM004820	MGMT	M	rs2308321	PASS	.	A	VAL/ILE	99,4305	74.7+/-112.8	0,99,2103	32	30	31		520	-0.4	1	10	dbSNP_100	31	1104,7496	215.5+/-254.8	70,964,3266	yes	missense	MGMT	NM_002412.3	29	70,1063,5369	GG,GA,AA		12.8372,2.248,9.251	benign	174/239	131565064	1203,11801	2202	4300	6502	SO:0001583	missense	4255	exon5			ATCCTCATCCCGT	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.520A>G	10.37:g.131565064A>G	ENSP00000302111:p.Ile174Val	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	143	64	0.447552	NM_002412	Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	CCDS7660.2	141	0.06456043956043957	5	0.01016260162601626	23	0.06353591160220995	6	0.01048951048951049	107	0.14116094986807387	A	2.658	-0.280507	0.05642	0.02248	0.128372	ENSG00000170430	ENST00000306010	T	0.13657	2.57	4.92	-0.425	0.12317	.	0.273464	0.34338	N	0.004049	T	0.00039	0.0001	N	0.10645	0.015	0.45490	D	0.998456	B	0.19331	0.035	B	0.19391	0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	9.1823	0.37149	0.6831:0.0:0.3169:0.0	rs2308321;rs17406533;rs60279652;rs2308321	174	B4DEE8	.	V	174	ENSP00000302111:I174V	ENSP00000302111:I174V	I	+	1	0	MGMT	131455054	0.964000	0.33143	0.998000	0.56505	0.356000	0.29392	1.655000	0.37345	-0.047000	0.13423	-0.464000	0.05259	ATC	A|0.927;G|0.073	0.073	strong		0.622	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		G	131565064	A	G	131565064	3	3	23	1	0	0	0	0	1	0	0	0	9557	217	8	2	538	2	MGMT	10	131565064	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1655135	131565064	3969683	2608	19064										
GLRX3	10539	hgsc.bcm.edu	37	chr10	131934747	131934747	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggtcggctcagccgggcaGtttgaggagctgctgcgcct	17	11	1	1	rs13991	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:131934747G>C	ENST00000368644.1	+	1	85	c.63G>C	c.(61-63)caG>caC	p.Q21H	GLRX3_ENST00000331244.5_Missense_Mutation_p.Q21H	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	21	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		Q -> H (in dbSNP:rs13991). {ECO:0000269|PubMed:10636891, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CAGCCGGGCAGTTTGAGGAGC	0.726													G|||	814	0.16254	0.1233	0.0893	5008	,	,		9451	0.1091		0.2326	False		,,,				2504	0.2505				p.Q21H		Atlas-SNP	.											TXNL2,NS,carcinoma,0,2	GLRX3	39	2	0			c.G63C						PASS	.	G	HIS/GLN,HIS/GLN	308,2812		15,278,1267	7	10	9		63,63	2.9	1	10	dbSNP_52	9	885,4637		75,735,1951	no	missense,missense	GLRX3	NM_001199868.1,NM_006541.4	24,24	90,1013,3218	CC,CG,GG		16.0268,9.8718,13.8047	possibly-damaging,possibly-damaging	21/336,21/336	131934747	1193,7449	1560	2761	4321	SO:0001583	missense	10539	exon1			CGGGCAGTTTGAG	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.63G>C	10.37:g.131934747G>C	ENSP00000357633:p.Gln21His	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	27	10	0.37037	NM_006541	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	CCDS7661.1	334	0.15293040293040294	64	0.13008130081300814	39	0.10773480662983426	52	0.09090909090909091	179	0.23614775725593667	G	16.20	3.054661	0.55325	0.098718	0.160268	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.14893	2.47;2.47	3.85	2.92	0.33932	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.077404	0.53938	D	0.000052	T	0.00012	0.0000	L	0.50993	1.605	0.20307	P	0.999915407	P	0.39862	0.692	P	0.50590	0.645	T	0.33954	-0.9848	9	0.24483	T	0.36	-2.8845	8.5365	0.33366	0.0:0.0:0.7694:0.2306	rs13991;rs1047395;rs3187400;rs13991	21	O76003	GLRX3_HUMAN	H	21	ENSP00000330836:Q21H;ENSP00000357633:Q21H	ENSP00000330836:Q21H	Q	+	3	2	GLRX3	131824737	0.996000	0.38824	0.997000	0.53966	0.810000	0.45777	0.140000	0.16056	0.802000	0.34089	0.313000	0.20887	CAG	G|0.849;C|0.151	0.151	strong		0.726	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		C	131934747	G	C	131934747	3	2	23	1	0	0	0	0	1	0	0	0	6461	1020	36	4	65	4	GLRX3	10	131934747	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	369683	131934747	3600000	2609	19065										
GLRX3	10539	hgsc.bcm.edu	37	chr10	131959150	131959150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctagtggctccttcctaCccagcgctaatgaacatctt	6	14	2	1	rs2274217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:131959150C>T	ENST00000368644.1	+	4	389	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	GLRX3_ENST00000331244.5_Missense_Mutation_p.P123S	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	123			P -> S (in dbSNP:rs2274217). {ECO:0000269|PubMed:10636891, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCCTTCCTACCCAGCGCTAA	0.438													C|||	957	0.191094	0.1241	0.1282	5008	,	,		16273	0.1101		0.2853	False		,,,				2504	0.3129				p.P123S		Atlas-SNP	.											TXNL2,colon,carcinoma,0,2	GLRX3	39	2	0			c.C367T						PASS	.	C	SER/PRO,SER/PRO	596,3810	261.9+/-264.6	47,502,1654	114	101	106		367,367	4.4	0.2	10	dbSNP_100	106	2244,6356	381.3+/-340.0	315,1614,2371	yes	missense,missense	GLRX3	NM_001199868.1,NM_006541.4	74,74	362,2116,4025	TT,TC,CC		26.093,13.527,21.8361	benign,benign	123/336,123/336	131959150	2840,10166	2203	4300	6503	SO:0001583	missense	10539	exon4			TTCCTACCCAGCG	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.367C>T	10.37:g.131959150C>T	ENSP00000357633:p.Pro123Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_006541	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	CCDS7661.1	386	0.17673992673992675	64	0.13008130081300814	53	0.1464088397790055	56	0.0979020979020979	213	0.28100263852242746	C	2.176	-0.388811	0.04932	0.13527	0.26093	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.08546	3.08;3.08	4.39	4.39	0.52855	Thioredoxin-like fold (1);	0.372544	0.26227	N	0.025598	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	9	0.08381	T	0.77	-2.8796	10.9948	0.47569	0.0:0.6927:0.3073:0.0	rs2274217;rs17297963;rs2274217	123	O76003	GLRX3_HUMAN	S	123	ENSP00000330836:P123S;ENSP00000357633:P123S	ENSP00000330836:P123S	P	+	1	0	GLRX3	131849140	0.090000	0.21635	0.206000	0.23566	0.141000	0.21300	0.666000	0.25097	2.284000	0.76573	0.655000	0.94253	CCC	C|0.799;T|0.201	0.201	strong		0.438	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		T	131959150	C	T	131959150	3	4	23	1	0	0	0	0	1	0	0	0	6461	507	18	2	381	2	GLRX3	10	131959150	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24403	131959150	3575597	2610	19066										
TCERG1L	256536	hgsc.bcm.edu	37	chr10	132961454	132961454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgctgtcctctcctcccCccagcatcggtggaggctcc	10	18	1	0	rs118074196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:132961454C>T	ENST00000368642.4	-	6	1050	c.965G>A	c.(964-966)gGg>gAg	p.G322E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	322										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCTCCTCCCCCCAGCATCGG	0.547													C|||	50	0.00998403	0.0008	0.0159	5008	,	,		17069	0.0		0.0368	False		,,,				2504	0.001				p.G322E		Atlas-SNP	.											.	TCERG1L	91	.	0			c.G965A						PASS	.	C	GLU/GLY	14,4378		0,14,2182	33	31	32		965	1.6	0	10	dbSNP_132	32	221,8361		4,213,4074	yes	missense	TCERG1L	NM_174937.3	98	4,227,6256	TT,TC,CC		2.5752,0.3188,1.8113	benign	322/587	132961454	235,12739	2196	4291	6487	SO:0001583	missense	256536	exon6			CCTCCCCCCAGCA	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.965G>A	10.37:g.132961454C>T	ENSP00000357631:p.Gly322Glu	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	35	18	0.514286	NM_174937	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	33	0.01510989010989011	0	0.0	6	0.016574585635359115	0	0.0	27	0.03562005277044855	C	0	-2.791991	0.00077	0.003188	0.025752	ENSG00000176769	ENST00000368642	T	0.22336	1.96	3.95	1.64	0.23874	.	0.950279	0.08679	N	0.909722	T	0.01353	0.0044	N	0.03608	-0.345	0.09310	N	1	B	0.25904	0.137	B	0.20767	0.031	T	0.31806	-0.9930	10	0.02654	T	1	-0.2517	4.043	0.09760	0.5535:0.2653:0.0:0.1812	.	322	Q5VWI1	TCRGL_HUMAN	E	322	ENSP00000357631:G322E	ENSP00000357631:G322E	G	-	2	0	TCERG1L	132851444	0.000000	0.05858	0.013000	0.15412	0.039000	0.13416	0.526000	0.22971	0.160000	0.19432	0.655000	0.94253	GGG	C|0.983;T|0.017	0.017	strong		0.547	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		T	132961454	C	T	132961454	3	4	23	1	0	0	0	0	1	0	0	0	15683	623	22	2	823	2	TCERG1L	10	132961454	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1002304	132961454	2573293	2611	19067										
JAKMIP3	282973	hgsc.bcm.edu	37	chr10	133950642	133950642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcagcaaaacctcatagaTgaactgtctaaggtacccgg	10	10	2	2	rs75996870	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:133950642T>C	ENST00000298622.4	+	6	1374	c.1236T>C	c.(1234-1236)gaT>gaC	p.D412D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	412						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCTCATAGATGAACTGTCTA	0.522													T|||	402	0.0802716	0.0023	0.0101	5008	,	,		18350	0.3016		0.0308	False		,,,				2504	0.0583				p.D412D		Atlas-SNP	.											.	JAKMIP3	69	.	0			c.T1236C						PASS	.			29,3789		0,29,1880	97	100	99		1236	-9.4	0.2	10	dbSNP_132	99	281,7953		3,275,3839	no	coding-synonymous	JAKMIP3	NM_001105521.2		3,304,5719	CC,CT,TT		3.4127,0.7596,2.5722		412/845	133950642	310,11742	1909	4117	6026	SO:0001819	synonymous_variant	282973	exon6			CATAGATGAACTG	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1236T>C	10.37:g.133950642T>C		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	162	79	0.487654	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																			T|0.912;C|0.088	0.088	strong		0.522	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		C	133950642	T	C	133950642	2	2	23	1	0	0	0	0	0	0	0	1	7942	1461	51	2		2	JAKMIP3	10	133950642	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	989188	133950642	1584105	2612	19068										
LRRC27	80313	hgsc.bcm.edu	37	chr10	134161517	134161517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggttagagagatgaccctcCgtgacctcccgagcccagga	12	14	0	4	rs2474329	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:134161517C>T	ENST00000368614.3	+	6	688	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	LRRC27_ENST00000344079.5_Missense_Mutation_p.R195C|LRRC27_ENST00000392638.2_Missense_Mutation_p.R195C|LRRC27_ENST00000368615.3_Missense_Mutation_p.R195C|LRRC27_ENST00000368612.1_Missense_Mutation_p.R133C|LRRC27_ENST00000432555.2_Missense_Mutation_p.R68C|LRRC27_ENST00000368610.3_Missense_Mutation_p.R133C|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R195C	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	195			R -> C (in dbSNP:rs2474329).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GATGACCCTCCGTGACCTCCC	0.547													c|||	385	0.076877	0.0522	0.1138	5008	,	,		16281	0.0		0.1859	False		,,,				2504	0.0511				p.R195C		Atlas-SNP	.											.	LRRC27	64	.	0			c.C583T						PASS	.	T	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	302,4104	163.6+/-195.4	11,280,1912	103	109	107		583,583,583,583	-0.6	0	10	dbSNP_100	107	1941,6659	334.5+/-321.0	230,1481,2589	yes	missense,missense,missense,missense	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	180,180,180,180	241,1761,4501	TT,TC,CC		22.5698,6.8543,17.2459	benign,benign,benign,benign	195/531,195/384,195/384,195/531	134161517	2243,10763	2203	4300	6503	SO:0001583	missense	80313	exon6			ACCCTCCGTGACC	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.583C>T	10.37:g.134161517C>T	ENSP00000357603:p.Arg195Cys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	121	49	0.404959	NM_001143757	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	CCDS31316.1	220	0.10073260073260074	28	0.056910569105691054	54	0.14917127071823205	0	0.0	138	0.1820580474934037	c	8.082	0.772591	0.16051	0.068543	0.225698	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T;T;T	0.46451	2.52;2.44;2.44;2.46;2.46;4.22;4.22;0.87	3.09	-0.645	0.11475	.	2.145260	0.01775	N	0.031386	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;P;B;B;B	0.44044	0.002;0.825;0.002;0.0;0.004	B;B;B;B;B	0.34722	0.001;0.188;0.001;0.0;0.001	T	0.07829	-1.0752	9	0.37606	T	0.19	0.7324	4.7016	0.12830	0.3686:0.4544:0.0:0.177	rs2474329;rs52823335;rs59594126;rs2474329	195;68;133;195;195	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;.;LRC27_HUMAN;.	C	195;195;195;195;195;133;133;68	ENSP00000357604:R195C;ENSP00000376413:R195C;ENSP00000342641:R195C;ENSP00000357603:R195C;ENSP00000357602:R195C;ENSP00000357601:R133C;ENSP00000357599:R133C;ENSP00000407949:R68C	ENSP00000342641:R195C	R	+	1	0	LRRC27	134011507	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.072000	0.11486	-0.125000	0.11703	-1.068000	0.02270	CGT	C|0.864;T|0.136	0.136	strong		0.547	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		T	134161517	C	T	134161517	3	4	23	1	0	0	0	0	1	0	0	0	8981	652	23	1	601	1	LRRC27	10	134161517	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	210875	134161517	1373230	2613	19069										
C10orf93	54777	hgsc.bcm.edu	37	chr10	134748281	134748281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcactgatagagggaaagcGctggtggttgtaatgaccta	13	6	1	3	rs74460040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr10:134748281G>A	ENST00000368586.5	-	8	941	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TTC40_ENST00000368585.3_Missense_Mutation_p.R281C|TTC40_ENST00000368582.2_Missense_Mutation_p.R281C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GAGGGAAAGCGCTGGTGGTTG	0.378													G|||	134	0.0267572	0.0613	0.0346	5008	,	,		18945	0.0		0.0268	False		,,,				2504	0.002				p.R281C		Atlas-SNP	.											.	TTC40	100	.	0			c.C841T						PASS	.	G	CYS/ARG	195,4211	124.1+/-161.4	5,185,2013	98	93	95		841	1	0	10	dbSNP_131	95	148,8452	72.3+/-134.9	1,146,4153	yes	missense	C10orf93	NM_173572.3	180	6,331,6166	AA,AG,GG		1.7209,4.4258,2.6372	probably-damaging	281/406	134748281	343,12663	2203	4300	6503	SO:0001583	missense	54777	exon8			GAAAGCGCTGGTG																												ENST00000368586.5:c.841C>T	10.37:g.134748281G>A	ENSP00000357575:p.Arg281Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	70	23	0.328571	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	52	0.023809523809523808	24	0.04878048780487805	13	0.03591160220994475	0	0.0	15	0.01978891820580475	G	14.76	2.631822	0.46944	0.044258	0.017209	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.55588	0.51;0.51;0.51	4.08	0.967	0.19674	.	0.829047	0.10271	N	0.694809	T	0.14700	0.0355	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	P	0.53649	0.731	T	0.11446	-1.0587	10	0.59425	D	0.04	.	4.147	0.10220	0.1146:0.0:0.4685:0.4169	.	281	Q5SR76-1	.	C	281	ENSP00000357575:R281C;ENSP00000357571:R281C;ENSP00000357574:R281C	ENSP00000357571:R281C	R	-	1	0	C10orf93	134598271	0.007000	0.16637	0.001000	0.08648	0.208000	0.24298	0.015000	0.13355	0.385000	0.24970	0.609000	0.83330	CGC	G|0.972;A|0.028	0.028	strong		0.378	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			A	134748281	G	A	134748281	3	1	23	1	0	0	0	0	1	0	0	0	1625	1087	38	1	384	1	C10orf93	10	134748281	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	586764	134748281	786466	2614	19070										
C11orf35	256329	hgsc.bcm.edu	37	chr11	556584	556584	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgggtgagtgggttttctgGagatctagagagagcagcgc	17	6	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:556584G>A	ENST00000329451.3	-	9	1043	c.981C>T	c.(979-981)ctC>ctT	p.L327L	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		327										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTTTTCTGGAGATCTAGAG	0.657																																					p.L327L		Atlas-SNP	.											.	C11orf35	22	.	0			c.C981T						PASS	.						20	20	20					11																	556584		2172	4248	6420	SO:0001819	synonymous_variant	256329	exon9			TTTCTGGAGATCT																												ENST00000329451.3:c.981C>T	11.37:g.556584G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	45	28	0.622222	NM_173573		Silent	SNP	ENST00000329451.3	37	CCDS7701.1																																																																																			.	.	none		0.657	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			A	556584	G	A	556584	2	1	23	1	0	0	0	0	0	0	0	1	1638	1161	41	2		2	C11orf35	11	556584	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10		556584	134449932	2615	19071										
RASSF7	8045	hgsc.bcm.edu	37	chr11	562219	562219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtcctgaggcgcacagggCccagcctagctgggaggccc	15	14	0	1	rs2242183	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:562219C>G	ENST00000397583.3	+	3	698	c.265C>G	c.(265-267)Ccc>Gcc	p.P89A	C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.P89A|RASSF7_ENST00000344375.4_Missense_Mutation_p.P89A|RASSF7_ENST00000454668.2_Missense_Mutation_p.P89A|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_Missense_Mutation_p.P89A	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	89	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.		P -> A (in dbSNP:rs2242183). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCACAGGGCCCAGCCTAGC	0.657													C|||	537	0.107228	0.0053	0.0648	5008	,	,		17268	0.3016		0.0656	False		,,,				2504	0.1176				p.P89A	Pancreas(184;1170 3913 7268)	Atlas-SNP	.											.	RASSF7	22	.	0			c.C265G						PASS	.	C	ALA/PRO,ALA/PRO,ALA/PRO	64,4342	57.4+/-93.9	0,64,2139	47	46	47		265,265,265	3.8	1	11	dbSNP_98	47	465,8135	128.5+/-186.7	7,451,3842	yes	missense,missense,missense	RASSF7	NM_001143993.1,NM_001143994.1,NM_003475.3	27,27,27	7,515,5981	GG,GC,CC		5.407,1.4526,4.0674	probably-damaging,probably-damaging,probably-damaging	89/338,89/321,89/374	562219	529,12477	2203	4300	6503	SO:0001583	missense	8045	exon3			ACAGGGCCCAGCC	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.265C>G	11.37:g.562219C>G	ENSP00000380713:p.Pro89Ala	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	155	72	0.464516	NM_001143994	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	CCDS7702.1	264	0.12087912087912088	4	0.008130081300813009	23	0.06353591160220995	183	0.31993006993006995	54	0.0712401055408971	C	22.7	4.318867	0.81469	0.014526	0.05407	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	3.81	3.81	0.43845	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.72894	2.215	0.09310	P	0.99999999876555	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.11792	-1.0573	9	0.30078	T	0.28	-3.5329	15.8892	0.79279	0.0:1.0:0.0:0.0	rs2242183;rs2242183	89;89;89	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	A	89	ENSP00000403068:P89A;ENSP00000380712:P89A;ENSP00000344226:P89A;ENSP00000380713:P89A;ENSP00000405606:P89A	ENSP00000344226:P89A	P	+	1	0	RASSF7	552219	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.717000	0.61923	1.975000	0.57531	0.561000	0.74099	CCC	C|0.930;G|0.070	0.070	strong		0.657	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		G	562219	C	G	562219	3	3	23	1	0	0	0	0	1	0	0	0	13091	739	26	4	271	4	RASSF7	11	562219	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5635	562219	134444297	2616	19072										
PNPLA2	57104	hgsc.bcm.edu	37	chr11	823809	823809	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggattactcgcagctgccCggagaagatcacatcctgga	12	11	1	2	rs1135628	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:823809C>G	ENST00000336615.4	+	7	1075	c.873C>G	c.(871-873)ccC>ccG	p.P291P	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	291					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCAGCTGCCCGGAGAAGATC	0.692													C|||	1338	0.267173	0.0809	0.1888	5008	,	,		11210	0.4127		0.2644	False		,,,				2504	0.4274				p.P291P		Atlas-SNP	.											.	PNPLA2	26	.	0			c.C873G						PASS	.	C		405,3963		28,349,1807	14	14	14		873	-4.6	0	11	dbSNP_86	14	2070,6504		260,1550,2477	no	coding-synonymous	PNPLA2	NM_020376.3		288,1899,4284	GG,GC,CC		24.1428,9.272,19.1238		291/505	823809	2475,10467	2184	4287	6471	SO:0001819	synonymous_variant	57104	exon7			GCTGCCCGGAGAA	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"Patatin-like phospholipase domain containing"	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.873C>G	11.37:g.823809C>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	51	26	0.509804	NM_020376	O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Silent	SNP	ENST00000336615.4	37	CCDS7718.1																																																																																			C|0.796;G|0.204	0.204	strong		0.692	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		G	823809	C	G	823809	2	3	23	1	0	0	0	0	0	0	0	1	12165	639	23	4		4	PNPLA2	11	823809	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	261590	823809	134182707	2617	19073										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	19	4	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																					p.P2011S		Atlas-SNP	.											MUC6_ENST00000421673,extremity,malignant_melanoma,0,1	MUC6	408	1	1	Substitution - Missense(1)	skin(1)	c.C6031T						scavenged	.																																			SO:0001583	missense	4588	exon31			AGAAAGGTGGAAC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic	1512	15	0.00992064		WXS	Illumina HiSeq	Phase_I	1260	33	0.0261905	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT	.	.	none		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	23	1	0	0	0	0	1	0	0	0	9980	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	192961	1016770	133989746	2618	19074										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	801	61	0.0761548		WXS	Illumina HiSeq	Phase_I	690	58	0.084058	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	23	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	298	1017068	133989448	2619	19075										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017575	1017575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggatgtagaggttttggcCgtgctaaatgagcttcggga	16	5	0	2	rs76222533		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1017575C>T	ENST00000421673.2	-	31	5276	c.5226G>A	c.(5224-5226)acG>acA	p.T1742T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTTTTGGCCGTGCTAAATG	0.537													-|||	1	0.000199681	0.0	0.0014	5008	,	,		39036	0.0		0.0	False		,,,				2504	0.0				p.T1742T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.G5226A						scavenged	.						697	677	684					11																	1017575		2190	4282	6472	SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5226G>A	11.37:g.1017575C>T		Somatic	906	88	0.0971302		WXS	Illumina HiSeq	Phase_I	678	57	0.0840708	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	strong		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017575	C	T	1017575	2	4	23	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017575	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	507	1017575	133988941	2620	19076										
MUC2	4583	hgsc.bcm.edu	37	chr11	1075850	1075850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcccccgccggggtggaGtccatcctgctgaccatcaa	13	15	1	1	rs11825969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1075850G>A	ENST00000441003.2	+	2	303	c.276G>A	c.(274-276)gaG>gaA	p.E92E	MUC2_ENST00000359061.5_Silent_p.E92E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	92	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	CCGGGGTGGAGTCCATCCTGC	0.647													G|||	582	0.116214	0.2179	0.0821	5008	,	,		16206	0.001		0.2078	False		,,,				2504	0.0276				p.E92E		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2	614	2	0			c.G276A						PASS	.	G		840,3090		104,632,1229	23	26	25		276	-0.8	0	11	dbSNP_120	25	1728,6528		193,1342,2593	no	coding-synonymous	MUC2	NM_002457.2		297,1974,3822	AA,AG,GG		20.9302,21.374,21.0734		92/2813	1075850	2568,9618	1965	4128	6093	SO:0001819	synonymous_variant	4583	exon2			GGTGGAGTCCATC	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.276G>A	11.37:g.1075850G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	113	63	0.557522	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				G|0.844;A|0.156	0.156	strong		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1075850	G	A	1075850	2	1	23	1	0	0	0	0	0	0	0	1	9975	1020	36	2		2	MUC2	11	1075850	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	58275	1075850	133930666	2621	19077										
MUC2	4583	hgsc.bcm.edu	37	chr11	1075920	1075920	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctgtgcttaacggggccGtgtgagtgtggtcggtggca	19	7	0	1	rs11825977	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1075920G>A	ENST00000441003.2	+	2	373	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	MUC2_ENST00000359061.5_Splice_Site_p.V116M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	116	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.		V -> M (in dbSNP:rs11825977).		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)	TAACGGGGCCGTGTGAGTGTG	0.632													A|||	578	0.115415	0.2148	0.0821	5008	,	,		17247	0.001		0.2078	False		,,,				2504	0.0276				p.V116M		Atlas-SNP	.											.	MUC2	614	.	0			c.G346A						PASS	.	A	MET/VAL	826,3184		103,620,1282	18	20	19		346	-7.6	0.6	11	dbSNP_120	19	1757,6545		199,1359,2593	yes	missense-near-splice	MUC2	NM_002457.2	21	302,1979,3875	AA,AG,GG		21.1636,20.5985,20.9795	possibly-damaging	116/2813	1075920	2583,9729	2005	4151	6156	SO:0001630	splice_region_variant	4583	exon2			GGGGCCGTGTGAG	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.347+1G>A	11.37:g.1075920G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	80	46	0.575	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		313	0.1433150183150183	102	0.2073170731707317	39	0.10773480662983426	1	0.0017482517482517483	171	0.22559366754617413	A	1.513	-0.548989	0.04024	0.205985	0.211636	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.59772	0.24;0.24	3.78	-7.56	0.01322	.	1.101460	0.07009	N	0.824818	T	0.00012	0.0000	N	0.11131	0.1	0.80722	P	0.0	B	0.31413	0.322	B	0.21708	0.036	T	0.04165	-1.0972	9	0.33141	T	0.24	.	2.0602	0.03590	0.3385:0.3431:0.2074:0.111	rs11825977;rs59632081;rs11825977	116	E7EUV1	.	M	116	ENSP00000415183:V116M;ENSP00000351956:V116M	ENSP00000351956:V116M	V	+	1	0	MUC2	1065920	0.020000	0.18652	0.582000	0.28627	0.104000	0.19210	-0.102000	0.10956	-2.618000	0.00441	-2.870000	0.00099	GTG	G|0.851;A|0.149	0.149	strong		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	Missense_Mutation	A	1075920	G	A	1075920	5	1	23	1	0	0	0	0	0	0	1	0	9975	1159	40	1	352	1	MUC2	11	1075920	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	70	1075920	133930596	2622	19078										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092954	1092954	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccatcaccaccaccactacGgtgaccccaaccccaacacc	3	23	1	1	rs56352686		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank			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	0.627																																					p.T1591T		Atlas-SNP	.											MUC2_ENST00000441003,rectum,carcinoma,0,4	MUC2	614	4	0			c.G4773A						scavenged	.						52	85	74					11																	1092954		1812	3296	5108	SO:0001630	splice_region_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	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A		Somatic	82	1	0.0121951		WXS	Illumina HiSeq	Phase_I	67	3	0.0447761	NM_002457	Q14878	Silent	SNP	ENST00000359061.5	37																																																																																				.	.	none		0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent	A	1092954	G	A	1092954	5	1	23	1	0	0	0	0	0	0	1	0	9975	1103	39	1	4891	1	MUC2	11	1092954	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17034	1092954	133913562	2623	19079										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092973	1092973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtgaccccaaccccaacaCccaccggcacacagacccca	6	22	0	2	rs55847666		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1092973C>T	ENST00000441003.2	+	30	4819	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	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)		p.P1598S(1)		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)	aaccccaacacccaccggcac	0.637																																					p.P1598S		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2	614	1	1	Substitution - Missense(1)	endometrium(1)	c.C4792T						scavenged	.						47	83	70					11																	1092973		1782	3238	5020	SO:0001583	missense	4583	exon30			CCAACACCCACCG	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.4792C>T	11.37:g.1092973C>T	ENSP00000415183:p.Pro1598Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	64	5	0.078125	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.622	-0.077443	0.07184	.	.	ENSG00000198788	ENST00000441003	T	0.13778	2.56	1.75	-2.88	0.05682	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43686	-0.9376	8	0.07482	T	0.82	.	3.4241	0.07403	0.4105:0.429:0.0:0.1605	rs55847666	1598	E7EUV1	.	S	1598	ENSP00000415183:P1598S	ENSP00000415183:P1598S	P	+	1	0	MUC2	1082973	0.007000	0.16637	0.000000	0.03702	0.120000	0.20174	0.230000	0.17852	-0.314000	0.08716	0.121000	0.15741	CCC	.	.	none		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092973	C	T	1092973	3	4	23	1	0	0	0	0	1	0	0	0	9975	507	18	2	4910	2	MUC2	11	1092973	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19	1092973	133913543	2624	19080										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093481	1093481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcacacagaccccaaccaCggtactcatcaccaccacca	5	20	2	1	rs547164370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1093481C>T	ENST00000441003.2	+	30	5327	c.5300C>T	c.(5299-5301)aCg>aTg	p.T1767M	MUC2_ENST00000359061.5_Splice_Site_p.T1734M|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T55M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	accccaaccacggtactcatc	0.612													c|||	7	0.00139776	0.0	0.0014	5008	,	,		26176	0.005		0.001	False		,,,				2504	0.0				p.T1767M		Atlas-SNP	.											.	MUC2	614	.	0			c.C5300T						PASS	.																																			SO:0001583	missense	4583	exon30			CAACCACGGTACT	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.5300C>T	11.37:g.1093481C>T	ENSP00000415183:p.Thr1767Met	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	69	20	0.289855	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.092	-0.186712	0.06340	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.12879	2.64;3.12;2.78	1.77	-3.54	0.04653	.	0.173549	0.20316	U	0.094725	T	0.06325	0.0163	.	.	.	0.09310	N	1	B	0.33073	0.396	B	0.24848	0.056	T	0.14952	-1.0454	9	0.66056	D	0.02	.	1.3227	0.02119	0.1446:0.3605:0.1442:0.3508	.	1767	E7EUV1	.	M	1767;1734;55	ENSP00000415183:T1767M;ENSP00000351956:T1734M;ENSP00000331373:T55M	ENSP00000331373:T55M	T	+	2	0	MUC2	1083481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.581000	0.23819	-1.920000	0.01069	-1.152000	0.01820	ACG	.	.	none		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093481	C	T	1093481	3	4	23	1	0	0	0	0	1	0	0	0	9975	536	19	1	5418	1	MUC2	11	1093481	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	508	1093481	133913035	2625	19081										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1248960	1248960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaagttggatgggcccacGgagcagtgcccggacccgct	15	13	0	1	rs2075855	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1248960G>A	ENST00000529681.1	+	7	781	c.723G>A	c.(721-723)acG>acA	p.T241T	MUC5B_ENST00000447027.1_Silent_p.T241T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	241	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGGGCCCACGGAGCAGTGCC	0.701													g|||	304	0.0607029	0.0219	0.1037	5008	,	,		14179	0.0456		0.0765	False		,,,				2504	0.0818				p.T241T		Atlas-SNP	.											MUC5B,colon,carcinoma,+1,2	MUC5B	473	2	0			c.G723A						scavenged	.	G		76,3702		0,76,1813	17	19	18		723	-7	0.8	11	dbSNP_96	18	483,7555		10,463,3546	no	coding-synonymous	MUC5B	NM_002458.2		10,539,5359	AA,AG,GG		6.009,2.0116,4.7309		241/5763	1248960	559,11257	1889	4019	5908	SO:0001819	synonymous_variant	727897	exon7			GCCCACGGAGCAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.723G>A	11.37:g.1248960G>A		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	76	43	0.565789	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			G|0.929;A|0.071	0.071	strong		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1248960	G	A	1248960	2	1	23	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1248960	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	155479	1248960	133757556	2626	19082										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1263523	1263523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaacctcaggggttgcaGgcggggacatggaaactttt	13	10	1	0	rs1541314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1263523G>A	ENST00000529681.1	+	31	5471	c.5413G>A	c.(5413-5415)Ggc>Agc	p.G1805S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G1808S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1805	7 X Cys-rich subdomain repeats.|Thr-rich.		G -> S (in dbSNP:rs1541314). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGGGTTGCAGGCGGGGACAT	0.582													g|||	328	0.0654952	0.0234	0.1095	5008	,	,		18135	0.0496		0.0815	False		,,,				2504	0.091				p.G1805S		Atlas-SNP	.											.	MUC5B	473	.	0			c.G5413A						PASS	.		SER/GLY	68,3940		0,68,1936	58	68	65		5413	1.1	0	11	dbSNP_88	65	596,7732		22,552,3590	yes	missense	MUC5B	NM_002458.2	56	22,620,5526	AA,AG,GG		7.1566,1.6966,5.3826	possibly-damaging	1805/5763	1263523	664,11672	2004	4164	6168	SO:0001583	missense	727897	exon31			GTTGCAGGCGGGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5413G>A	11.37:g.1263523G>A	ENSP00000436812:p.Gly1805Ser	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	218	109	0.5	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	156	0.07142857142857142	12	0.024390243902439025	38	0.10497237569060773	43	0.07517482517482517	63	0.08311345646437995	g	13.68	2.308444	0.40895	0.016966	0.071566	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17370	2.28;2.28	4.32	1.15	0.20763	.	.	.	.	.	T	0.00637	0.0021	M	0.62154	1.92	0.80722	P	0.0	P;P	0.47034	0.817;0.889	B;P	0.50896	0.426;0.653	T	0.07385	-1.0775	8	0.87932	D	0	.	7.167	0.25695	0.1554:0.3933:0.4513:0.0	rs1541314;rs52836874;rs57142305;rs1541314	2498;1808	A7Y9J9;E9PBJ0	.;.	S	1805;1808;1806;1875	ENSP00000436812:G1805S;ENSP00000415793:G1808S	ENSP00000343037:G1806S	G	+	1	0	MUC5B	1220099	0.003000	0.15002	0.000000	0.03702	0.452000	0.32318	0.480000	0.22244	-0.043000	0.13513	0.306000	0.20318	GGC	G|0.928;A|0.072	0.072	strong		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1263523	G	A	1263523	3	1	23	1	0	0	0	0	1	0	0	0	9979	1000	35	2	5544	2	MUC5B	11	1263523	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14563	1263523	133742993	2627	19083			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1263776	1263776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccactgccccagtacccCagccaccagctccacggcca	7	22	0	0	rs2943510	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1263776C>T	ENST00000529681.1	+	31	5724	c.5666C>T	c.(5665-5667)cCa>cTa	p.P1889L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1892L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1889	7 X Cys-rich subdomain repeats.|Thr-rich.		P -> L (in dbSNP:rs2943510). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCAGTACCCCAGCCACCAGC	0.592													C|||	595	0.11881	0.0998	0.2147	5008	,	,		18334	0.0526		0.1312	False		,,,				2504	0.1319				p.P1889L		Atlas-SNP	.											.	MUC5B	473	.	0			c.C5666T						PASS	.	C	LEU/PRO	421,3957	185.3+/-212.5	16,389,1784	78	99	92		5666	2.7	0	11	dbSNP_101	92	1067,7491	217.4+/-256.1	67,933,3279	yes	missense	MUC5B	NM_002458.2	98	83,1322,5063	TT,TC,CC		12.4679,9.6163,11.5028	probably-damaging	1889/5763	1263776	1488,11448	2189	4279	6468	SO:0001583	missense	727897	exon31			GTACCCCAGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5666C>T	11.37:g.1263776C>T	ENSP00000436812:p.Pro1889Leu	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	239	136	0.569038	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	265	0.12133699633699634	45	0.09146341463414634	71	0.19613259668508287	43	0.07517482517482517	106	0.13984168865435356	C	10.98	1.504368	0.26949	0.096163	0.124679	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.34	2.72	2.72	0.32119	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B;B	0.29627	0.144;0.252	B;B	0.18561	0.022;0.022	T	0.23726	-1.0180	8	0.87932	D	0	.	9.1961	0.37228	0.0:0.8804:0.0:0.1196	rs2943510;rs58124603;rs2943510	2582;1892	A7Y9J9;E9PBJ0	.;.	L	1889;1892;1890;1959	ENSP00000436812:P1889L;ENSP00000415793:P1892L	ENSP00000343037:P1890L	P	+	2	0	MUC5B	1220352	0.000000	0.05858	0.001000	0.08648	0.142000	0.21351	0.339000	0.19875	1.534000	0.49203	0.089000	0.15464	CCA	C|0.873;T|0.127	0.127	strong		0.592	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1263776	C	T	1263776	3	4	23	1	0	0	0	0	1	0	0	0	9979	594	21	2	5797	2	MUC5B	11	1263776	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	253	1263776	133742740	2628	19084			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264767	1264767	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctggacttcggccacctcGggcatcttgggcaccaccca					rs2943501	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1264767G>A	ENST00000529681.1	+	31	6715	c.6657G>A	c.(6655-6657)tcG>tcA	p.S2219S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2222S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2219	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCTCGGGCATCTTGG	0.652																																					p.S2219S		Atlas-SNP	.											MUC5B,NS,neuroblastoma,0,2	MUC5B	473	2	0			c.G6657A						scavenged	.						86	102	97					11																	1264767		2068	4181	6249	SO:0001819	synonymous_variant	727897	exon31			CACCTCGGGCATC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6657G>A	11.37:g.1264767G>A		Somatic	364	0	0		WXS	Illumina HiSeq	Phase_I	366	14	0.0382514	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	weak		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1264767	G	A	1264767	2	1	23	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1264767	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	991	1264767	133741749	2629	19085	393	2	13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264772	1264772	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttcggccacctcgggcaTcttgggcaccacccacatca					rs2943500		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1264772T>C	ENST00000529681.1	+	31	6720	c.6662T>C	c.(6661-6663)aTc>aCc	p.I2221T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I2224T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2221	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.I2224T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTCGGGCATCTTGGGCACC	0.662																																					p.I2221T		Atlas-SNP	.											MUC5B,NS,neuroblastoma,0,3	MUC5B	473	3	1	Substitution - Missense(1)	skin(1)	c.T6662C						scavenged	.						94	111	105					11																	1264772		2080	4181	6261	SO:0001583	missense	727897	exon31			CGGGCATCTTGGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6662T>C	11.37:g.1264772T>C	ENSP00000436812:p.Ile2221Thr	Somatic	391	1	0.00255754		WXS	Illumina HiSeq	Phase_I	375	15	0.04	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.754	0.323450	0.10900	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21191	2.02;2.21	2.39	1.4	0.22301	.	.	.	.	.	T	0.06325	0.0163	N	0.00729	-1.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34204	-0.9838	9	0.87932	D	0	.	6.6171	0.22782	0.0:0.7019:0.1804:0.1177	rs2943500	2859;2224	A7Y9J9;E9PBJ0	.;.	T	2221;2224;2222;2236	ENSP00000436812:I2221T;ENSP00000415793:I2224T	ENSP00000343037:I2222T	I	+	2	0	MUC5B	1221348	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.044000	0.13992	-0.095000	0.12351	-0.684000	0.03749	ATC	.	.	weak		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264772	T	C	1264772	3	2	23	1	0	0	0	0	1	0	0	0	9979	1435	50	2	6793	2	MUC5B	11	1264772	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5	1264772	133741744	2630	19086	393	2	13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264808	1264808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcacagagccttccacggTgacttcccacaccctagcag	7	17	1	2	rs2943528	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1264808T>G	ENST00000529681.1	+	31	6756	c.6698T>G	c.(6697-6699)gTg>gGg	p.V2233G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V2236G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2233	7 X Cys-rich subdomain repeats.|Thr-rich.			V -> G (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCACGGTGACTTCCCAC	0.652																																					p.V2233G		Atlas-SNP	.											.	MUC5B	473	.	0			c.T6698G						PASS	.						94	126	116					11																	1264808		2112	4198	6310	SO:0001583	missense	727897	exon31			CCACGGTGACTTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6698T>G	11.37:g.1264808T>G	ENSP00000436812:p.Val2233Gly	Somatic	448	1	0.00223214		WXS	Illumina HiSeq	Phase_I	445	153	0.34382	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	204	0.09340659340659341	34	0.06910569105691057	50	0.13812154696132597	35	0.06118881118881119	85	0.11213720316622691	t	3.185	-0.167068	0.06461	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21932	1.98;2.17	0.593	0.593	0.17478	.	.	.	.	.	T	0.00109	0.0003	L	0.43152	1.355	0.80722	P	0.0	P;P	0.47604	0.898;0.898	B;B	0.28849	0.094;0.095	T	0.23691	-1.0181	8	0.87932	D	0	.	6.7213	0.23332	0.0:0.0:0.0:1.0	rs2943528	2871;2236	A7Y9J9;E9PBJ0	.;.	G	2233;2236;2234;2248	ENSP00000436812:V2233G;ENSP00000415793:V2236G	ENSP00000343037:V2234G	V	+	2	0	MUC5B	1221384	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-3.817000	0.00359	0.466000	0.27193	0.254000	0.18369	GTG	T|0.921;G|0.079	0.079	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1264808	T	G	1264808	3	3	23	1	0	0	0	0	1	0	0	0	9979	1696	59	5	6829	5	MUC5B	11	1264808	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	36	1264808	133741708	2631	19087			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1265987	1265987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccctcctccagcccagggaCggcacgcacgcttccagtgt	10	19	0	0	rs3021158	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1265987C>G	ENST00000529681.1	+	31	7935	c.7877C>G	c.(7876-7878)aCg>aGg	p.T2626R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2629R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2626	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2605R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCCAGGGACGGCACGCACG	0.652													c|||	583	0.116414	0.0915	0.2147	5008	,	,		18972	0.0526		0.1302	False		,,,				2504	0.1319				p.T2626R		Atlas-SNP	.											MUC5AC,brain,glioma,0,1	MUC5B	473	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C7877G						PASS	.	C	ARG/THR	357,3869		17,323,1773	138	169	159		7877	0.1	0	11	dbSNP_101	159	1041,7425		66,909,3258	no	missense	MUC5B	NM_002458.2	71	83,1232,5031	GG,GC,CC		12.2962,8.4477,11.0148	probably-damaging	2626/5763	1265987	1398,11294	2113	4233	6346	SO:0001583	missense	727897	exon31			CAGGGACGGCACG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7877C>G	11.37:g.1265987C>G	ENSP00000436812:p.Thr2626Arg	Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	262	138	0.526718	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	259	0.11858974358974358	39	0.07926829268292683	71	0.19613259668508287	43	0.07517482517482517	106	0.13984168865435356	c	3.340	-0.134883	0.06711	0.084477	0.122962	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.19938	2.11;2.29	1.19	0.116	0.14647	.	.	.	.	.	T	0.00039	0.0001	M	0.63843	1.955	0.80722	P	0.0	D;D	0.64830	0.994;0.994	P;P	0.60682	0.878;0.878	T	0.08289	-1.0729	8	0.87932	D	0	.	6.8768	0.24151	0.0:0.8162:0.0:0.1838	.	3264;2629	A7Y9J9;E9PBJ0	.;.	R	2626;2629;2598;2641;167	ENSP00000436812:T2626R;ENSP00000415793:T2629R	ENSP00000343037:T2598R	T	+	2	0	MUC5B	1222563	0.307000	0.24500	0.000000	0.03702	0.007000	0.05969	0.522000	0.22909	0.036000	0.15547	0.205000	0.17691	ACG	C|0.873;G|0.127	0.127	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1265987	C	G	1265987	3	3	23	1	0	0	0	0	1	0	0	0	9979	536	19	4	8008	4	MUC5B	11	1265987	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1179	1265987	133740529	2632	19088			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1266537	1266537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcactcgactccagccctGtccagccctcaccctagcag	7	20	1	0	rs199659189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1266537G>T	ENST00000529681.1	+	31	8485	c.8427G>T	c.(8425-8427)ctG>ctT	p.L2809L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L2812L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2809	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGCCCTGTCCAGCCCTC	0.682													-|||	290	0.0579073	0.0401	0.1167	5008	,	,		17295	0.0387		0.0706	False		,,,				2504	0.047				p.L2809L		Atlas-SNP	.											MUC5B,NS,carcinoma,0,2	MUC5B	473	2	0			c.G8427T						scavenged	.																																			SO:0001819	synonymous_variant	727897	exon31			AGCCCTGTCCAGC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8427G>T	11.37:g.1266537G>T		Somatic	572	5	0.00874126		WXS	Illumina HiSeq	Phase_I	322	90	0.279503	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			G|0.790;T|0.211	0.211	strong		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1266537	G	T	1266537	2	4	23	1	0	0	0	0	0	0	0	1	9979	1364	48	4		4	MUC5B	11	1266537	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	550	1266537	133739979	2633	19089			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1269655	1269655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacaaccagggccaccggcTctgtggccaccccctcttcc	8	21	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1269655T>G	ENST00000529681.1	+	31	11603	c.11545T>G	c.(11545-11547)Tct>Gct	p.S3849A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3852A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3849	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCACCGGCTCTGTGGCCAC	0.642																																					p.S3849A		Atlas-SNP	.											.	MUC5B	473	.	0			c.T11545G						PASS	.						118	137	131					11																	1269655		2065	4172	6237	SO:0001583	missense	727897	exon31			ACCGGCTCTGTGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11545T>G	11.37:g.1269655T>G	ENSP00000436812:p.Ser3849Ala	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	341	98	0.28739	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	1.973	-0.435940	0.04636	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21031	2.03;2.21	0.58	-1.16	0.09678	.	.	.	.	.	T	0.17152	0.0412	M	0.75264	2.295	0.09310	N	1	P;P	0.40476	0.718;0.718	B;B	0.28385	0.089;0.089	T	0.10154	-1.0642	9	0.87932	D	0	.	4.7328	0.12974	0.0:0.2164:0.0:0.7836	.	4377;3852	A7Y9J9;E9PBJ0	.;.	A	3849;3852;3793;3754	ENSP00000436812:S3849A;ENSP00000415793:S3852A	ENSP00000343037:S3793A	S	+	1	0	MUC5B	1226231	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-5.111000	0.00150	-0.567000	0.06046	0.163000	0.16589	TCT	.	.	none		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1269655	T	G	1269655	3	3	23	1	0	0	0	0	1	0	0	0	9979	1551	54	5	11676	5	MUC5B	11	1269655	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3118	1269655	133736861	2634	19090			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271219	1271221	+	In_Frame_Del	DEL	CCA	CCA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagtgctgaccacgaaggCcaccacgacaagggccacca					rs61430934|rs199629887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1271219_1271221delCCA	ENST00000529681.1	+	31	13167_13169	c.13109_13111delCCA	c.(13108-13113)gccacc>gcc	p.T4373del	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_In_Frame_Del_p.T4376del	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4373	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGAAGGCCACCACGACAAG	0.635														328	0.0654952	0.0242	0.1095	5008	,	,		19711	0.0496		0.0805	False		,,,				2504	0.091				p.4370_4370del		Pindel	.											.	MUC5B	473	.	0			c.13108_13110del						PASS	.			85,4011		5,75,1968						-0.1	0		dbSNP_129	110	576,7474		25,526,3474	no	coding	MUC5B	NM_002458.2		30,601,5442	A1A1,A1R,RR		7.1553,2.0752,5.4421				661,11485				SO:0001651	inframe_deletion	727897	exon31			.	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13109_13111delCCA	11.37:g.1271222_1271224delCCA	ENSP00000436812:p.Thr4373del	Somatic	323	.	.		WXS	Illumina HiSeq	Phase_I	293	64	0.218	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																			CCA|0.926;-|0.074	0.074	strong		0.635	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1271221	CCA	-	1271219	7	5	23	1	0	1	0	1	0	0	0	0	9979	739	26	0	13240	0	MUC5B	11	1271219	In_Frame_Del	DEL	CCA	TCGA-GR-7353-01A-11D-2210-10	1564	1271219	133735297	2635	19091			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1272245	1272245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccccagtgctgaccagcaCggccaccacacccgcagcca	8	21	0	1	rs2943511	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1272245C>T	ENST00000529681.1	+	31	14193	c.14135C>T	c.(14134-14136)aCg>aTg	p.T4712M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4715M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4712	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		T -> M (in dbSNP:rs2943511). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctgaccagcacggccaccaca	0.617													c|||	356	0.0710863	0.0295	0.1138	5008	,	,		18081	0.0496		0.0974	False		,,,				2504	0.092				p.T4712M		Atlas-SNP	.											MUC5B,colon,carcinoma,0,2	MUC5B	473	2	0			c.C14135T						PASS	.	C	MET/THR	77,4207		2,73,2067	110	141	131		14135	-3.3	0	11	dbSNP_101	131	629,7823		39,551,3636	yes	missense	MUC5B	NM_002458.2	81	41,624,5703	TT,TC,CC		7.442,1.7974,5.5433		4712/5763	1272245	706,12030	2142	4226	6368	SO:0001583	missense	727897	exon31			CCAGCACGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14135C>T	11.37:g.1272245C>T	ENSP00000436812:p.Thr4712Met	Somatic	471	0	0		WXS	Illumina HiSeq	Phase_I	523	255	0.487572	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	154	0.07051282051282051	9	0.018292682926829267	38	0.10497237569060773	43	0.07517482517482517	64	0.08443271767810026	-	2.685	-0.274526	0.05679	0.017974	0.07442	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.19394	2.15;2.33	1.65	-3.31	0.04988	.	.	.	.	.	T	0.00412	0.0013	M	0.75264	2.295	0.80722	P	0.0	D	0.60160	0.987	B	0.35413	0.202	T	0.06023	-1.0850	8	0.87932	D	0	.	2.2239	0.03979	0.177:0.497:0.176:0.1499	rs2943511	4715	E9PBJ0	.	M	4712;4715;4656;485	ENSP00000436812:T4712M;ENSP00000415793:T4715M	ENSP00000343037:T4656M	T	+	2	0	MUC5B	1228821	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-5.903000	0.00091	-0.636000	0.05524	0.194000	0.17425	ACG	C|0.930;T|0.070	0.070	strong		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1272245	C	T	1272245	3	4	23	1	0	0	0	0	1	0	0	0	9979	536	19	1	14266	1	MUC5B	11	1272245	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1026	1272245	133734271	2636	19092			13	82		10	9	8723	N	T_G_CCA_C	8.296325e-05
TOLLIP	54472	hgsc.bcm.edu	37	chr11	1309956	1309956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccctgcctcagggactcCgggatggtgatgtgggtcca	15	11	1	1	rs3750920	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:1309956C>T	ENST00000317204.6	-	4	540	c.417G>A	c.(415-417)ccG>ccA	p.P139P	TOLLIP_ENST00000263646.7_Silent_p.P111P|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000527886.1_Silent_p.P70P|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000525159.1_Silent_p.P78P|TOLLIP_ENST00000542915.1_Silent_p.P89P	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	139					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TCAGGGACTCCGGGATGGTGA	0.637													c|||	1803	0.360024	0.2761	0.3415	5008	,	,		17466	0.3165		0.4573	False		,,,				2504	0.4315				p.P139P		Atlas-SNP	.											TOLLIP,NS,carcinoma,0,1	TOLLIP	25	1	0			c.G417A						scavenged	.			1317,3087	440.2+/-345.9	205,907,1090	157	96	117		417	-4.6	0.7	11	dbSNP_107	117	3776,4820	535.5+/-382.8	847,2082,1369	no	coding-synonymous	TOLLIP	NM_019009.3		1052,2989,2459	TT,TC,CC		43.9274,29.9046,39.1769		139/275	1309956	5093,7907	2202	4298	6500	SO:0001819	synonymous_variant	54472	exon4			GGACTCCGGGATG	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.417G>A	11.37:g.1309956C>T		Somatic	152	2	0.0131579		WXS	Illumina HiSeq	Phase_I	154	82	0.532468	NM_019009	B3KXC6|Q9H9E6|Q9UJ69	Silent	SNP	ENST00000317204.6	37	CCDS7723.1																																																																																			C|0.625;T|0.375	0.375	strong		0.637	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		T	1309956	C	T	1309956	2	4	23	1	0	0	0	0	0	0	0	1	16347	639	23	1		1	TOLLIP	11	1309956	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37711	1309956	133696560	2637	19093										
INS-IGF2	723961	hgsc.bcm.edu	37	chr11	2169014	2169014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatccacctcctcccacacaAgctcggtggtgactcttcgg	8	16	1	1	rs10770125	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:2169014A>G	ENST00000397270.1	-	4	489	c.431T>C	c.(430-432)cTt>cCt	p.L144P	IGF2-AS_ENST00000445504.2_RNA|IGF2_ENST00000300632.5_5'UTR|IGF2-AS_ENST00000381361.3_RNA|INS-IGF2_ENST00000481781.1_5'UTR|IGF2-AS_ENST00000381363.4_RNA	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	144				L -> P (in Ref. 1; ABD93453/ABD93452). {ECO:0000305}.		extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CTCCCACACAAGCTCGGTGGT	0.607											OREG0003767	type=REGULATORY REGION|Gene=IGF2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A|||	1742	0.347843	0.1233	0.5778	5008	,	,		14613	0.3958		0.4563	False		,,,				2504	0.3272				p.L144P		Atlas-SNP	.											.	INS-IGF2	8	.	0			c.T431C						PASS	.	A	,PRO/LEU	560,2794		70,420,1187	13	14	14		,431	1.1	0	11	dbSNP_120	14	3133,4145		756,1621,1262	yes	utr-5,missense	IGF2,INS-IGF2	NM_001007139.4,NM_001042376.2	,98	826,2041,2449	GG,GA,AA		43.0475,16.6965,34.7348	,benign	,144/201	2169014	3693,6939	1677	3639	5316	SO:0001583	missense	723961	exon4			CACACAAGCTCGG	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.431T>C	11.37:g.2169014A>G	ENSP00000380440:p.Leu144Pro	Somatic	161	0	0	601	WXS	Illumina HiSeq	Phase_I	115	44	0.382609	NM_001042376	Q1WM24	Missense_Mutation	SNP	ENST00000397270.1	37	CCDS41598.1	840	0.38461538461538464	63	0.12804878048780488	199	0.5497237569060773	226	0.3951048951048951	352	0.46437994722955145	A	12.53	1.966046	0.34659	0.166965	0.430475	ENSG00000129965	ENST00000397270	D	0.96830	-4.14	3.45	1.14	0.20703	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.399999999995849E-5	B	0.32101	0.356	B	0.33568	0.166	T	0.09773	-1.0659	7	0.87932	D	0	.	5.0118	0.14317	0.7437:0.0:0.2563:0.0	rs10770125;rs17881514;rs10770125	144	F8WCM5	.	P	144	ENSP00000380440:L144P	ENSP00000348986:L144P	L	-	2	0	INS-IGF2	2125590	0.155000	0.22806	0.003000	0.11579	0.018000	0.09664	0.621000	0.24418	0.228000	0.21019	0.482000	0.46254	CTT	A|0.652;G|0.348	0.348	strong		0.607	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		G	2169014	A	G	2169014	3	3	23	1	0	0	0	0	1	0	0	0	7763	72	3	3	175	3	INS-IGF2	11	2169014	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	859058	2169014	132837502	2638	19094										
TSPAN32	10077	hgsc.bcm.edu	37	chr11	2325427	2325427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggaggcccagggcctcaTggcaggggtgagttcattgt	18	8	2	1	rs61744929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:2325427T>C	ENST00000182290.4	+	3	409	c.272T>C	c.(271-273)aTg>aCg	p.M91T	TSPAN32_ENST00000381121.3_Missense_Mutation_p.M91T|TSPAN32_ENST00000451520.2_Missense_Mutation_p.M80T|C11orf21_ENST00000470369.1_5'Flank|TSPAN32_ENST00000483227.1_3'UTR|C11orf21_ENST00000381153.3_5'Flank	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	91					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CAGGGCCTCATGGCAGGGGTG	0.632													T|||	19	0.00379393	0.0015	0.0043	5008	,	,		16077	0.0		0.0099	False		,,,				2504	0.0041				p.M91T		Atlas-SNP	.											.	TSPAN32	19	.	0			c.T272C						PASS	.	T	THR/MET	8,4390		0,8,2191	37	34	35		272	4.1	1	11	dbSNP_129	35	119,8465		0,119,4173	yes	missense	TSPAN32	NM_139022.2	81	0,127,6364	CC,CT,TT		1.3863,0.1819,0.9783	benign	91/321	2325427	127,12855	2199	4292	6491	SO:0001583	missense	10077	exon3			GCCTCATGGCAGG	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.272T>C	11.37:g.2325427T>C	ENSP00000182290:p.Met91Thr	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	36	14	0.388889	NM_139022	Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	CCDS7733.1	8	0.003663003663003663	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	T	10.19	1.282156	0.23392	0.001819	0.013863	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.24	4.12	4.12	0.48240	.	0.146307	0.30649	N	0.009173	T	0.78572	0.4304	L	0.51422	1.61	0.31276	N	0.691117	D;D;P;D;P;D	0.63880	0.993;0.978;0.936;0.991;0.948;0.978	P;P;P;P;P;P	0.60609	0.877;0.649;0.556;0.736;0.684;0.733	T	0.80294	-0.1443	10	0.42905	T	0.14	-24.6332	9.7847	0.40668	0.0:0.0:0.0:1.0	rs61744929	78;91;61;91;91;80	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1;F8WCN6	.;.;.;.;TSN32_HUMAN;.	T	91;91;80;61;61	ENSP00000182290:M91T;ENSP00000370513:M91T;ENSP00000405205:M80T;ENSP00000370509:M61T	ENSP00000182290:M91T	M	+	2	0	TSPAN32	2282003	0.988000	0.35896	1.000000	0.80357	0.169000	0.22640	0.386000	0.20702	1.636000	0.50526	0.443000	0.29094	ATG	T|0.992;C|0.008	0.008	strong		0.632	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		C	2325427	T	C	2325427	3	2	23	1	0	0	0	0	1	0	0	0	16644	1464	51	2	282	2	TSPAN32	11	2325427	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	156413	2325427	132681089	2639	19095										
TRPM5	29850	hgsc.bcm.edu	37	chr11	2434799	2434799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcggccatgtccccccacCagatcctggtcaggaaggcc	11	17	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:2434799C>A	ENST00000155858.6	-	13	1918	c.1910G>T	c.(1909-1911)tGg>tTg	p.W637L	TRPM5_ENST00000452833.1_Missense_Mutation_p.W639L|TRPM5_ENST00000528453.1_Missense_Mutation_p.W637L|TRPM5_ENST00000533060.1_Missense_Mutation_p.W637L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCCCCCCACCAGATCCTGGT	0.642																																					p.W637L	NSCLC(1;49 61 17205 18850 43201)	Atlas-SNP	.											.	TRPM5	86	.	0			c.G1910T						PASS	.						54	53	53					11																	2434799		2202	4299	6501	SO:0001583	missense	29850	exon13			CCCCACCAGATCC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1910G>T	11.37:g.2434799C>A	ENSP00000155858:p.Trp637Leu	Somatic	388	1	0.00257732		WXS	Illumina HiSeq	Phase_I	392	126	0.321429	NM_014555		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130183	0.77549	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000001	D	0.90448	0.7009	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.92548	0.6047	10	0.87932	D	0	-15.2033	15.4027	0.74855	0.0:1.0:0.0:0.0	.	637;639;637	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	631;637;639;637;637;637	ENSP00000434383:W631L;ENSP00000155858:W637L;ENSP00000387965:W639L;ENSP00000434121:W637L;ENSP00000436809:W637L	ENSP00000155858:W637L	W	-	2	0	TRPM5	2391375	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.383000	0.79741	1.940000	0.56252	0.313000	0.20887	TGG	.	.	none		0.642	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		A	2434799	C	A	2434799	3	1	23	1	0	0	0	0	1	0	0	0	16586	595	21	4	1635	4	TRPM5	11	2434799	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	109372	2434799	132571717	2640	19096										
TRPM5	29850	hgsc.bcm.edu	37	chr11	2436464	2436464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaaggccggtggccccgCgggtggctcccgggcctgct	19	14	0	1	rs34551253	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:2436464C>T	ENST00000155858.6	-	9	1374	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	TRPM5_ENST00000452833.1_Missense_Mutation_p.A458T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A456T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A456T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTGGCCCCGCGGGTGGCTCC	0.716													C|||	54	0.0107827	0.0023	0.0245	5008	,	,		13476	0.001		0.0308	False		,,,				2504	0.002				p.A456T	NSCLC(1;49 61 17205 18850 43201)	Atlas-SNP	.											.	TRPM5	86	.	0			c.G1366A						PASS	.	C	THR/ALA	35,4235		1,33,2101	7	9	9		1366	-6.4	0	11	dbSNP_126	9	273,8141		6,261,3940	yes	missense	TRPM5	NM_014555.3	58	7,294,6041	TT,TC,CC		3.2446,0.8197,2.4283	benign	456/1166	2436464	308,12376	2135	4207	6342	SO:0001583	missense	29850	exon9			GCCCCGCGGGTGG	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1366G>A	11.37:g.2436464C>T	ENSP00000155858:p.Ala456Thr	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	10	6	0.6	NM_014555		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	35	0.016025641025641024	1	0.0020325203252032522	12	0.03314917127071823	0	0.0	22	0.029023746701846966	C	0.009	-1.820965	0.00595	0.008197	0.032446	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	3.19	-6.37	0.01963	.	1.134030	0.06672	N	0.766349	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.005;0.005;0.008	B;B;B	0.09377	0.002;0.001;0.004	T	0.05517	-1.0880	10	0.14252	T	0.57	0.2166	1.5474	0.02568	0.2706:0.3676:0.1989:0.1629	rs34551253	456;458;456	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	450;456;458;456;456;456	ENSP00000434383:A450T;ENSP00000155858:A456T;ENSP00000387965:A458T;ENSP00000434121:A456T;ENSP00000436809:A456T	ENSP00000155858:A456T	A	-	1	0	TRPM5	2393040	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.025000	0.01435	-3.859000	0.00098	-1.579000	0.00862	GCG	C|0.983;T|0.017	0.017	strong		0.716	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2436464	C	T	2436464	3	4	23	1	0	0	0	0	1	0	0	0	16586	768	27	1	2195	1	TRPM5	11	2436464	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1665	2436464	132570052	2641	19097										
ZNF195	7748	hgsc.bcm.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	9	9	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000354599.6_Silent_p.K448K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403																																					p.K520K		Atlas-SNP	.											ZNF195,NS,carcinoma,0,4	ZNF195	77	4	0			c.G1560A						scavenged	.						168	171	170					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	7748	exon6			GTAGGGCTTCTCT		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1560G>A	11.37:g.3380678C>T		Somatic	94	3	0.0319149		WXS	Illumina HiSeq	Phase_I	94	3	0.0319149	NM_001130520	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	CCDS44522.1																																																																																			.	.	none		0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			T	3380678	C	T	3380678	2	4	23	1	0	0	0	0	0	0	0	1	17755	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	944214	3380678	131625838	2642	19098										
NUP98	4928	hgsc.bcm.edu	37	chr11	3723941	3723941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgtacccactgttttcaaCggaacctcaggggctgggct	12	12	2	0	rs35488940	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:3723941C>T	ENST00000324932.7	-	23	3684	c.3264G>A	c.(3262-3264)ccG>ccA	p.P1088P	NUP98_ENST00000355260.3_Silent_p.P1088P|NUP98_ENST00000359171.4_Silent_p.P1088P	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1105					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGTTTTCAACGGAACCTCAG	0.512			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C|||	116	0.0231629	0.0076	0.036	5008	,	,		18553	0.001		0.0726	False		,,,				2504	0.0072				p.P1088P		Atlas-SNP	.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	NUP98	149	.	0			c.G3264A						PASS	.	C	,	76,4326	65.8+/-103.3	1,74,2126	94	79	84		3264,3264	-3	0.3	11	dbSNP_126	84	671,7925	169.4+/-220.8	23,625,3650	no	coding-synonymous,coding-synonymous	NUP98	NM_016320.4,NM_139132.3	,	24,699,5776	TT,TC,CC		7.806,1.7265,5.747	,	1088/1801,1088/1727	3723941	747,12251	2201	4298	6499	SO:0001819	synonymous_variant	4928	exon23			TTTCAACGGAACC	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3264G>A	11.37:g.3723941C>T		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	178	87	0.488764	NM_016320	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1																																																																																			C|0.951;T|0.049	0.049	strong		0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3723941	C	T	3723941	2	4	23	1	0	0	0	0	0	0	0	1	10773	523	19	1		1	NUP98	11	3723941	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	343263	3723941	131282575	2643	19099										
STIM1	6786	hgsc.bcm.edu	37	chr11	4103524	4103524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacatgaggtggaggtgcaAtattacaacatcaagaagca	10	7	1	2	rs2304891	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4103524A>G	ENST00000300737.4	+	8	1649	c.1080A>G	c.(1078-1080)caA>caG	p.Q360Q	STIM1_ENST00000533977.1_Silent_p.Q187Q|STIM1_ENST00000527651.1_Silent_p.Q360Q	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	360	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGAGGTGCAATATTACAACA	0.507													A|||	1948	0.388978	0.0976	0.4841	5008	,	,		19607	0.4425		0.5676	False		,,,				2504	0.4765				p.Q360Q		Atlas-SNP	.											STIM1,NS,carcinoma,0,2	STIM1	55	2	0			c.A1080G						PASS	.	A		765,3637	309.4+/-291.0	79,607,1515	68	62	64		1080	1.5	1	11	dbSNP_100	64	4938,3658	623.1+/-397.4	1403,2132,763	no	coding-synonymous	STIM1	NM_003156.3		1482,2739,2278	GG,GA,AA		42.5547,17.3785,43.876		360/686	4103524	5703,7295	2201	4298	6499	SO:0001819	synonymous_variant	6786	exon8			GGTGCAATATTAC	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1080A>G	11.37:g.4103524A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	148	144	0.972973	NM_003156	E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	CCDS7749.1	938	0.42948717948717946	51	0.10365853658536585	194	0.5359116022099447	272	0.4755244755244755	421	0.5554089709762533	A	10.06	1.246080	0.22796	0.173785	0.574453	ENSG00000167323	ENST00000526596	.	.	.	5.49	1.5	0.22942	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.48570	-0.9024	3	.	.	.	-27.0925	9.4534	0.38741	0.2918:0.0:0.7082:0.0	rs2304891;rs17209912;rs57302968;rs2304891	.	.	.	S	91	.	.	N	+	2	0	STIM1	4060100	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.794000	0.38774	0.016000	0.14998	-0.375000	0.07067	AAT	A|0.576;G|0.424	0.424	strong		0.507	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		G	4103524	A	G	4103524	2	3	23	1	0	0	0	0	0	0	0	1	15282	98	4	2		2	STIM1	11	4103524	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	379583	4103524	130902992	2644	19100										
RRM1	6240	hgsc.bcm.edu	37	chr11	4154851	4154851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcctatggcatgaagagaTgaaaaaccagattattgcat	11	6	0	4	rs145770432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4154851T>C	ENST00000300738.5	+	17	2168	c.1964T>C	c.(1963-1965)aTg>aCg	p.M655T	RRM1_ENST00000534285.1_Missense_Mutation_p.M433T|RRM1_ENST00000423050.2_Missense_Mutation_p.M558T|RRM1_ENST00000537197.1_Missense_Mutation_p.M317T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	655					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CATGAAGAGATGAAAAACCAG	0.403													T|||	2	0.000399361	0.0	0.0	5008	,	,		20309	0.0		0.002	False		,,,				2504	0.0				p.M655T	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	Atlas-SNP	.											.	RRM1	31	.	0			c.T1964C						PASS	.	T	THR/MET	1,4401	2.1+/-5.4	0,1,2200	111	103	106		1964	5.5	1	11	dbSNP_134	106	2,8594	2.2+/-6.3	0,2,4296	yes	missense	RRM1	NM_001033.3	81	0,3,6496	CC,CT,TT		0.0233,0.0227,0.0231	benign	655/793	4154851	3,12995	2201	4298	6499	SO:0001583	missense	6240	exon17			AAGAGATGAAAAA	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1964T>C	11.37:g.4154851T>C	ENSP00000300738:p.Met655Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	112	40	0.357143	NM_001033	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	17.36	3.368737	0.61624	2.27E-4	2.33E-4	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.52	5.52	0.82312	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.75884	2.315	0.80722	D	1	P	0.42757	0.789	B	0.38264	0.269	T	0.55179	-0.8181	10	0.87932	D	0	-17.4615	14.8104	0.69992	0.0:0.0:0.0:1.0	.	655	P23921	RIR1_HUMAN	T	655;558;568;433;433;317	ENSP00000300738:M655T;ENSP00000390539:M558T;ENSP00000431464:M433T;ENSP00000442148:M317T	ENSP00000300738:M655T	M	+	2	0	RRM1	4111427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.092000	0.63282	0.533000	0.62120	ATG	T|0.999;C|0.001	0.001	strong		0.403	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		C	4154851	T	C	4154851	3	2	23	1	0	0	0	0	1	0	0	0	13681	1464	51	2	2030	2	RRM1	11	4154851	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	51327	4154851	130851665	2645	19101										
RRM1	6240	hgsc.bcm.edu	37	chr11	4159457	4159457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggatgtattatttaaggacAagaccagcggctaatccaat	10	7	0	1	rs9937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4159457A>G	ENST00000300738.5	+	19	2427	c.2223A>G	c.(2221-2223)acA>acG	p.T741T	RRM1_ENST00000534285.1_Silent_p.T519T|RRM1_ENST00000423050.2_Silent_p.T644T|RRM1_ENST00000537197.1_Silent_p.T403T|RRM1-AS1_ENST00000529323.1_RNA	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	741					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTTAAGGACAAGACCAGCGG	0.373													A|||	1726	0.344649	0.0953	0.4424	5008	,	,		15831	0.3819		0.5239	False		,,,				2504	0.3896				p.T741T	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	Atlas-SNP	.											.	RRM1	31	.	0			c.A2223G						PASS	.	A		733,3669	299.6+/-285.9	48,637,1516	65	66	66		2223	3	1	11	dbSNP_52	66	4612,3984	600.6+/-394.2	1226,2160,912	no	coding-synonymous	RRM1	NM_001033.3		1274,2797,2428	GG,GA,AA		46.3471,16.6515,41.1217		741/793	4159457	5345,7653	2201	4298	6499	SO:0001819	synonymous_variant	6240	exon19			AAGGACAAGACCA	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.2223A>G	11.37:g.4159457A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	120	119	0.991667	NM_001033	Q9UNN2	Silent	SNP	ENST00000300738.5	37	CCDS7750.1																																																																																			A|0.587;G|0.413	0.413	strong		0.373	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		G	4159457	A	G	4159457	2	3	23	1	0	0	0	0	0	0	0	1	13681	117	5	2		2	RRM1	11	4159457	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4606	4159457	130847059	2646	19102										
OR51D1	390038	hgsc.bcm.edu	37	chr11	4661285	4661285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgacctagtcctctcctctAtcaccatgcccaagatggcc	6	16	3	2	rs905871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4661285A>G	ENST00000357605.2	+	1	341	c.265A>G	c.(265-267)Atc>Gtc	p.I89V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	89			I -> V (in dbSNP:rs905871). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCTCCTCTATCACCATGCC	0.522													A|||	597	0.119209	0.0182	0.2046	5008	,	,		23192	0.003		0.2992	False		,,,				2504	0.1299				p.I89V		Atlas-SNP	.											.	OR51D1	49	.	0			c.A265G						PASS	.	A	VAL/ILE	373,4029	189.2+/-215.4	16,341,1844	161	123	136		265	-4.4	0	11	dbSNP_86	136	2913,5683	455.3+/-363.7	509,1895,1894	yes	missense	OR51D1	NM_001004751.2	29	525,2236,3738	GG,GA,AA		33.8879,8.4734,25.2808	benign	89/325	4661285	3286,9712	2201	4298	6499	SO:0001583	missense	390038	exon1			TCCTCTATCACCA	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.265A>G	11.37:g.4661285A>G	ENSP00000350222:p.Ile89Val	Somatic	332	1	0.00301205		WXS	Illumina HiSeq	Phase_I	330	153	0.463636	NM_001004751	B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	CCDS31357.1	316	0.1446886446886447	14	0.028455284552845527	80	0.22099447513812154	3	0.005244755244755245	219	0.28891820580474936	A	0.120	-1.126930	0.01770	0.084734	0.338879	ENSG00000197428	ENST00000357605	T	0.00375	7.71	4.62	-4.42	0.03579	GPCR, rhodopsin-like superfamily (1);	1.077760	0.07339	N	0.880470	T	0.00012	0.0000	N	0.01257	-0.925	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06427	-1.0827	9	0.59425	D	0.04	.	5.3083	0.15815	0.4484:0.0:0.3376:0.214	rs905871;rs52794998;rs905871	89	Q8NGF3	O51D1_HUMAN	V	89	ENSP00000350222:I89V	ENSP00000350222:I89V	I	+	1	0	OR51D1	4617861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.347000	0.02632	-1.020000	0.03354	-2.403000	0.00223	ATC	A|0.794;G|0.206	0.206	strong		0.522	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		G	4661285	A	G	4661285	3	3	23	1	0	0	0	0	1	0	0	0	11093	449	16	2	267	2	OR51D1	11	4661285	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	501828	4661285	130345231	2647	19103										
OR51E1	143503	hgsc.bcm.edu	37	chr11	4674575	4674575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaagcggcgtgactctccGctgcccgtcatcttggccaa	11	15	3	1	rs3817098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4674575G>A	ENST00000530215.1	+	2	190	c.149G>A	c.(148-150)cGc>cAc	p.R50H	OR51E1_ENST00000396952.5_Silent_p.P273P			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGACTCTCCGCTGCCCGTCA	0.493													C|||	1470	0.29353	0.2012	0.4179	5008	,	,		19913	0.0556		0.499	False		,,,				2504	0.364				p.P273P		Atlas-SNP	.											.	OR51E1	67	.	0			c.G819A						PASS	.	C		1066,3336		145,776,1280	176	166	170		819	-0.3	1	11	dbSNP_107	170	4662,3934		1269,2124,905	no	coding-synonymous	OR51E1	NM_152430.3		1414,2900,2185	AA,AG,GG		45.7655,24.2163,44.0683		273/319	4674575	5728,7270	2201	4298	6499	SO:0001583	missense	143503	exon2			CTCTCCGCTGCCC	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.149G>A	11.37:g.4674575G>A	ENSP00000431593:p.Arg50His	Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	158	153	0.968354	NM_152430	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	ENST00000530215.1	37		667	0.30540293040293043	104	0.21138211382113822	156	0.430939226519337	38	0.06643356643356643	369	0.4868073878627968	C	12.62	1.992606	0.35131	0.242163	0.542345	ENSG00000180785	ENST00000530215	T	0.37058	1.22	4.77	-0.309	0.12769	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44922	-0.9296	5	0.34782	T	0.22	.	2.4516	0.04519	0.1184:0.434:0.2315:0.2162	rs3817098;rs17224511;rs56919705;rs3817098	.	.	.	H	50	ENSP00000431593:R50H	ENSP00000431593:R50H	R	+	2	0	OR51E1	4631151	0.000000	0.05858	0.952000	0.39060	0.220000	0.24768	-1.771000	0.01789	-0.131000	0.11578	-0.120000	0.15030	CGC	G|0.615;A|0.385	0.385	strong		0.493	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000385957.1	NM_152430		A	4674575	G	A	4674575	3	1	23	1	0	0	0	0	1	0	0	0	11094	1074	38	1	821	1	OR51E1	11	4674575	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13290	4674575	130331941	2648	19104										
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790396	4790396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatgtggatgtagaagaaaGcaactgctcccacatgggag	13	8	0	2	rs17324609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790396G>A	ENST00000380383.1	-	1	772	c.773C>T	c.(772-774)gCt>gTt	p.A258V	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.A251V|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	258			A -> V (in dbSNP:rs17324609).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTAGAAGAAAGCAACTGCTCC	0.483													G|||	230	0.0459265	0.0061	0.0951	5008	,	,		20736	0.0		0.1412	False		,,,				2504	0.0143				p.A251V		Atlas-SNP	.											.	OR51F1	60	.	0			c.C752T						PASS	.	G	VAL/ALA	140,4262	98.0+/-136.7	1,138,2062	102	90	94		752	5.2	0.9	11	dbSNP_123	94	1159,7437	238.2+/-269.8	94,971,3233	yes	missense	OR51F1	NM_001004752.1	64	95,1109,5295	AA,AG,GG		13.483,3.1804,9.9938	possibly-damaging	251/313	4790396	1299,11699	2201	4298	6499	SO:0001583	missense	256892	exon1			AAGAAAGCAACTG	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.773C>T	11.37:g.4790396G>A	ENSP00000369744:p.Ala258Val	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	183	95	0.519126	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		157	0.07188644688644688	2	0.0040650406504065045	47	0.1298342541436464	0	0.0	108	0.1424802110817942	G	20.3	3.963905	0.74131	0.031804	0.13483	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.783599	0.11487	N	0.559083	T	0.00356	0.0011	L	0.35593	1.075	0.80722	P	0.0	D	0.58970	0.984	P	0.61275	0.886	T	0.03641	-1.1017	9	0.72032	D	0.01	.	11.8249	0.52261	0.0839:0.0:0.9161:0.0	rs17324609;rs52817348;rs17324609	258	A6NGY5	O51F1_HUMAN	V	251;258	ENSP00000345163:A251V;ENSP00000369744:A258V	ENSP00000345163:A251V	A	-	2	0	OR51F1	4746972	0.602000	0.26916	0.874000	0.34290	0.923000	0.55619	2.740000	0.47418	2.728000	0.93425	0.655000	0.94253	GCT	G|0.915;A|0.085	0.085	strong		0.483	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		A	4790396	G	A	4790396	3	1	23	1	0	0	0	0	1	0	0	0	11096	971	34	2	189	2	OR51F1	11	4790396	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	115821	4790396	130216120	2649	19105			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790410	4790410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaaagcaactgctcccacAtgggagacacaggtgctgaa	11	10	0	3	rs1030724	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790410A>G	ENST00000380383.1	-	1	758	c.759T>C	c.(757-759)caT>caC	p.H253H	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.H246H|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGCTCCCACATGGGAGACAC	0.493													G|||	1079	0.215455	0.4561	0.2017	5008	,	,		21390	0.0		0.2704	False		,,,				2504	0.0654				p.H246H		Atlas-SNP	.											OR51F1,right_upper_lobe,carcinoma,-2,1	OR51F1	60	1	0			c.T738C						PASS	.	G		1965,2437	619.1+/-393.3	445,1075,681	101	91	95		738	2.3	1	11	dbSNP_86	95	2178,6418	712.3+/-405.9	291,1596,2411	no	coding-synonymous	OR51F1	NM_001004752.1		736,2671,3092	GG,GA,AA		25.3374,44.6388,31.8741		246/313	4790410	4143,8855	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			TCCCACATGGGAG	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.759T>C	11.37:g.4790410A>G		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	188	98	0.521277	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				A|0.707;G|0.293	0.293	strong		0.493	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790410	A	G	4790410	2	3	23	1	0	0	0	0	0	0	0	1	11096	214	8	2		2	OR51F1	11	4790410	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14	4790410	130216106	2650	19106			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790482	4790482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaggacagagtgaataatTaagatatatgacaggacaat	10	4	0	5	rs12792898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790482T>C	ENST00000380383.1	-	1	686	c.687A>G	c.(685-687)ttA>ttG	p.L229L	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.L222L|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTGAATAATTAAGATATATG	0.443													T|||	230	0.0459265	0.0061	0.0951	5008	,	,		22294	0.0		0.1412	False		,,,				2504	0.0143				p.L222L		Atlas-SNP	.											OR51F1,NS,carcinoma,-2,1	OR51F1	60	1	0			c.A666G						PASS	.	T		140,4262	98.0+/-136.7	1,138,2062	127	125	126		666	1.1	0.1	11	dbSNP_121	126	1159,7437	238.5+/-269.9	94,971,3233	no	coding-synonymous	OR51F1	NM_001004752.1		95,1109,5295	CC,CT,TT		13.483,3.1804,9.9938		222/313	4790482	1299,11699	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			AATAATTAAGATA	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.687A>G	11.37:g.4790482T>C		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	193	95	0.492228	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				T|0.909;C|0.091	0.091	strong		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		C	4790482	T	C	4790482	2	2	23	1	0	0	0	0	0	0	0	1	11096	1751	61	2		2	OR51F1	11	4790482	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	72	4790482	130216034	2651	19107			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790575	4790575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatttgcccgaatgtctgaAcatgctaattgaatcacatc	6	10	2	2	rs12788102	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790575A>G	ENST00000380383.1	-	1	593	c.594T>C	c.(592-594)tgT>tgC	p.C198C	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.C191C|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAATGTCTGAACATGCTAATT	0.383													A|||	243	0.0485224	0.0151	0.0965	5008	,	,		24195	0.0		0.1412	False		,,,				2504	0.0143				p.C191C		Atlas-SNP	.											.	OR51F1	60	.	0			c.T573C						PASS	.	A		214,4188	129.8+/-166.5	2,210,1989	146	141	143		573	2.8	1	11	dbSNP_121	143	1159,7437	238.5+/-269.9	94,971,3233	no	coding-synonymous	OR51F1	NM_001004752.1		96,1181,5222	GG,GA,AA		13.483,4.8614,10.5632		191/313	4790575	1373,11625	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			GTCTGAACATGCT	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.594T>C	11.37:g.4790575A>G		Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	306	149	0.486928	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				A|0.911;G|0.089	0.089	strong		0.383	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790575	A	G	4790575	2	3	23	1	0	0	0	0	0	0	0	1	11096	41	2	2		2	OR51F1	11	4790575	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	93	4790575	130215941	2652	19108			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790605	4790605	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatcacatctggatggtaAcaataggagtgagaaagggc	13	5	2	2	rs112024216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790605A>G	ENST00000380383.1	-	1	563	c.564T>C	c.(562-564)tgT>tgC	p.C188C	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.C181C|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGATGGTAACAATAGGAGT	0.388													A|||	77	0.0153754	0.0008	0.0389	5008	,	,		23784	0.0		0.0487	False		,,,				2504	0.0				p.C181C		Atlas-SNP	.											.	OR51F1	60	.	0			c.T543C						PASS	.	A		37,4365	41.6+/-74.8	0,37,2164	144	138	140		543	-5.1	0.3	11	dbSNP_132	140	331,8265	115.3+/-175.2	6,319,3973	no	coding-synonymous	OR51F1	NM_001004752.1		6,356,6137	GG,GA,AA		3.8506,0.8405,2.8312		181/313	4790605	368,12630	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			ATGGTAACAATAG	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.564T>C	11.37:g.4790605A>G		Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	248	126	0.508065	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				A|0.971;G|0.029	0.029	strong		0.388	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790605	A	G	4790605	2	3	23	1	0	0	0	0	0	0	0	1	11096	41	2	2		2	OR51F1	11	4790605	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	30	4790605	130215911	2653	19109			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790758	4790758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggtagtgtacctcagaggGtcacagatggccacataacg	12	9	2	2	rs11033796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790758G>A	ENST00000380383.1	-	1	410	c.411C>T	c.(409-411)gaC>gaT	p.D137D	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.D130D|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTCAGAGGGTCACAGATGG	0.418													A|||	1167	0.233027	0.5174	0.2104	5008	,	,		21796	0.0		0.2714	False		,,,				2504	0.0654				p.D130D		Atlas-SNP	.											.	OR51F1	60	.	0			c.C390T						PASS	.	A		2151,2251	595.0+/-388.3	532,1087,582	79	80	79		390	-0.9	0.5	11	dbSNP_120	79	2183,6413	712.0+/-405.9	292,1599,2407	no	coding-synonymous	OR51F1	NM_001004752.1		824,2686,2989	AA,AG,GG		25.3955,48.8642,33.3436		130/313	4790758	4334,8664	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			CAGAGGGTCACAG	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.411C>T	11.37:g.4790758G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	145	72	0.496552	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				G|0.690;A|0.310	0.310	strong		0.418	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		A	4790758	G	A	4790758	2	1	23	1	0	0	0	0	0	0	0	1	11096	1252	44	2		2	OR51F1	11	4790758	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	153	4790758	130215758	2654	19110			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790857	4790857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacatctggacaatgcagctAtatagactgatttcacgtgc	8	9	2	2	rs11033797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790857A>G	ENST00000380383.1	-	1	311	c.312T>C	c.(310-312)taT>taC	p.Y104Y	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.Y97Y|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAATGCAGCTATATAGACTGA	0.448													A|||	1080	0.215655	0.4569	0.2017	5008	,	,		22329	0.0		0.2704	False		,,,				2504	0.0654				p.Y97Y		Atlas-SNP	.											.	OR51F1	60	.	0			c.T291C						PASS	.	A		1968,2434	554.2+/-379.0	445,1078,678	77	74	75		291	2.6	0	11	dbSNP_120	75	2178,6418	371.0+/-336.1	290,1598,2410	no	coding-synonymous	OR51F1	NM_001004752.1		735,2676,3088	GG,GA,AA		25.3374,44.707,31.8972		97/313	4790857	4146,8852	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			GCAGCTATATAGA	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.312T>C	11.37:g.4790857A>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	110	60	0.545455	NM_001004752		Silent	SNP	ENST00000380383.1	37																																																																																				A|0.713;G|0.287	0.287	strong		0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790857	A	G	4790857	2	3	23	1	0	0	0	0	0	0	0	1	11096	456	16	2		2	OR51F1	11	4790857	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	99	4790857	130215659	2655	19111			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790874	4790874	+	Frame_Shift_Del	DEL	G	G	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctatatagactgatttcacGtgcctcaaaccagaggatac					rs563980182|rs34672924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790874delG	ENST00000380383.1	-	1	294	c.295delC	c.(295-297)cgtfs	p.R99fs	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Frame_Shift_Del_p.R92fs|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGATTTCACGTGCCTCAAAC	0.423													G|G|-|deletion	1081	0.215855	0.4569	0.2017	5008	,	,		22520	0.0		0.2714	False		,,,				2504	0.0654				p.R92fs		Pindel,Atlas-Indel	.											OR51F1,NS,carcinoma,-1,1	OR51F1	60	1	0			c.275delG	GRCh37	CD035870	OR51F1	D	rs34672924	PASS	.			1902,2362		424,1054,654	57	62	60			-0.4	0	11	dbSNP_126	75	2098,6156		281,1536,2310	no	frameshift	OR51F1	NM_001004752.1		705,2590,2964	A1A1,A1R,RR		25.418,44.606,31.954			4790874	4000,8518	1817	4059	5876	SO:0001589	frameshift_variant	256892	exon1			.	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.295delC	11.37:g.4790874delG	ENSP00000369744:p.Arg99fs	Somatic	137	.	.		WXS	Illumina HiSeq	Phase_I	118	37	0.314	NM_001004752		Frame_Shift_Del	DEL	ENST00000380383.1	37																																																																																				G|0.772;-|0.228	0.228	strong		0.423	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		-	4790874	G	-	4790874	7	5	23	1	0	1	0	1	0	0	0	0	11096	1145	40	0	667	0	OR51F1	11	4790874	Frame_Shift_Del	DEL	G	TCGA-GR-7353-01A-11D-2210-10	17	4790874	130215642	2656	19112			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR51F1	256892	hgsc.bcm.edu	37	chr11	4790951	4790951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcagtggctgatagcctgAagaggaaataatacatgggt	13	5	1	3	rs11033801	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4790951A>G	ENST00000380383.1	-	1	217	c.218T>C	c.(217-219)tTc>tCc	p.F73S	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F66S|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	73			F -> S (in dbSNP:rs11033801).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGATAGCCTGAAGAGGAAATA	0.443													G|||	1080	0.215655	0.4569	0.2017	5008	,	,		21639	0.0		0.2704	False		,,,				2504	0.0654				p.F66S		Atlas-SNP	.											.	OR51F1	60	.	0			c.T197C						PASS	.	G	SER/PHE	1966,2436	617.7+/-393.0	443,1080,678	67	63	65		197	4.8	1	11	dbSNP_120	65	2164,6432	712.0+/-405.9	286,1592,2420	yes	missense	OR51F1	NM_001004752.1	155	729,2672,3098	GG,GA,AA		25.1745,44.6615,31.7741	benign	66/313	4790951	4130,8868	2201	4298	6499	SO:0001583	missense	256892	exon1			AGCCTGAAGAGGA	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.218T>C	11.37:g.4790951A>G	ENSP00000369744:p.Phe73Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	104	43	0.413462	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		494	0.2261904761904762	225	0.4573170731707317	82	0.2265193370165746	0	0.0	187	0.24670184696569922	G	0.026	-1.367725	0.01225	0.446615	0.251745	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00449	7.37;7.37	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.133054	0.34580	N	0.003857	T	0.00012	0.0000	N	0.00186	-1.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06643	-1.0815	9	0.02654	T	1	.	7.3933	0.26921	0.0863:0.0:0.7488:0.1649	rs11033801;rs52802475;rs58778978;rs11033801	73	A6NGY5	O51F1_HUMAN	S	66;73	ENSP00000345163:F66S;ENSP00000369744:F73S	ENSP00000345163:F66S	F	-	2	0	OR51F1	4747527	0.352000	0.24895	0.965000	0.40720	0.712000	0.41017	0.483000	0.22292	1.271000	0.44313	-0.197000	0.12766	TTC	A|0.702;G|0.298	0.298	strong		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		G	4790951	A	G	4790951	3	3	23	1	0	0	0	0	1	0	0	0	11096	246	9	2	744	2	OR51F1	11	4790951	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	77	4790951	130215565	2657	19113			14	83	3518151	9	9	556	N	T_G_A	6.47903e-14
OR52R1	119695	hgsc.bcm.edu	37	chr11	4825010	4825010	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggccacaaagagcccatTcccacgacttatgcttgtat	8	12	0	1	rs6578533	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4825010T>A	ENST00000356069.2	-	1	600	c.601A>T	c.(601-603)Aat>Tat	p.N201Y	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.N280Y|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	201			N -> Y (in dbSNP:rs6578533). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1}.			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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGAGCCCATTCCCACGACTT	0.493													A|||	1551	0.309704	0.559	0.2795	5008	,	,		23742	0.0129		0.3907	False		,,,				2504	0.2168				p.N201Y		Atlas-SNP	.											.	OR52R1	81	.	0			c.A601T						PASS	.	A	TYR/ASN	2267,2135	577.8+/-384.5	595,1077,529	152	115	128		601	4.4	0.8	11	dbSNP_116	128	3013,5583	663.9+/-402.1	551,1911,1836	yes	missense	OR52R1	NM_001005177.3	143	1146,2988,2365	AA,AT,TT		35.0512,48.5007,40.6216	benign	201/316	4825010	5280,7718	2201	4298	6499	SO:0001583	missense	119695	exon1			GCCCATTCCCACG	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.601A>T	11.37:g.4825010T>A	ENSP00000348368:p.Asn201Tyr	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	81	36	0.444444	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	682	0.31227106227106227	270	0.5487804878048781	117	0.32320441988950277	10	0.017482517482517484	285	0.3759894459102902	A	0.009	-1.845698	0.00568	0.514993	0.350512	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.28255	1.62;1.62	5.57	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	N	0.000407	T	0.00012	0.0000	N	0.00002	-3.515	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47586	-0.9106	9	0.02654	T	1	.	10.3189	0.43753	0.739:0.0:0.0:0.261	rs6578533;rs57223245;rs6578533	201	Q8NGF1	O52R1_HUMAN	Y	201;280	ENSP00000348368:N201Y;ENSP00000369742:N280Y	ENSP00000348368:N201Y	N	-	1	0	OR52R1	4781586	0.002000	0.14202	0.753000	0.31225	0.302000	0.27658	1.733000	0.38156	1.130000	0.42092	-0.265000	0.10407	AAT	A|0.369;N|0.000	0.369	strong		0.493	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		A	4825010	T	A	4825010	3	1	23	1	0	0	0	0	1	0	0	0	11131	1783	62	5	349	5	OR52R1	11	4825010	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	34059	4825010	130181506	2658	19114										
OR52R1	119695	hgsc.bcm.edu	37	chr11	4825225	4825225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgtcggagtgggaagcagAtagccacgtagcagtccagg	16	8	0	1	rs7941731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4825225A>G	ENST00000356069.2	-	1	385	c.386T>C	c.(385-387)aTc>aCc	p.I129T	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.I208T|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	129			I -> T (in dbSNP:rs7941731). {ECO:0000269|PubMed:14983052, ECO:0000269|Ref.1}.			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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAAGCAGATAGCCACGTA	0.572													A|||	1549	0.309305	0.5582	0.2795	5008	,	,		21992	0.0129		0.3897	False		,,,				2504	0.2168				p.I129T		Atlas-SNP	.											.	OR52R1	81	.	0			c.T386C						PASS	.	A	THR/ILE	2266,2136	598.9+/-389.2	594,1078,529	127	112	117		386	5.4	1	11	dbSNP_116	117	3011,5585	465.5+/-366.5	551,1909,1838	yes	missense	OR52R1	NM_001005177.3	89	1145,2987,2367	GG,GA,AA		35.0279,48.5234,40.5986	probably-damaging	129/316	4825225	5277,7721	2201	4298	6499	SO:0001583	missense	119695	exon1			AAGCAGATAGCCA	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.386T>C	11.37:g.4825225A>G	ENSP00000348368:p.Ile129Thr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	76	36	0.473684	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	682	0.31227106227106227	270	0.5487804878048781	117	0.32320441988950277	10	0.017482517482517484	285	0.3759894459102902	A	17.17	3.320491	0.60634	0.514766	0.350279	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.59224	0.28;0.28	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.00012	0.0000	H	0.96970	3.915	0.20821	P	0.999840389	D	0.58620	0.983	P	0.51193	0.662	T	0.48175	-0.9058	9	0.72032	D	0.01	.	14.4289	0.67236	1.0:0.0:0.0:0.0	rs7941731;rs52795806;rs7941731	129	Q8NGF1	O52R1_HUMAN	T	129;208	ENSP00000348368:I129T;ENSP00000369742:I208T	ENSP00000348368:I129T	I	-	2	0	OR52R1	4781801	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	8.942000	0.92970	2.280000	0.76307	0.528000	0.53228	ATC	A|0.629;G|0.371	0.371	strong		0.572	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		G	4825225	A	G	4825225	3	3	23	1	0	0	0	0	1	0	0	0	11131	333	12	2	564	2	OR52R1	11	4825225	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	215	4825225	130181291	2659	19115										
OR51F2	119694	hgsc.bcm.edu	37	chr11	4842866	4842866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctatgctttcagccacagAcctgagcttgtccctgtgta	8	13	2	2	rs35003053	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4842866A>G	ENST00000322110.5	+	1	316	c.251A>G	c.(250-252)gAc>gGc	p.D84G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCCACAGACCTGAGCTTG	0.473													A|||	303	0.0605032	0.0371	0.1023	5008	,	,		23225	0.0		0.163	False		,,,				2504	0.0194				p.D84G		Atlas-SNP	.											OR51F2,NS,carcinoma,+1,1	OR51F2	72	1	0			c.A251G						PASS	.	A	GLY/ASP	267,4135	149.9+/-184.0	5,257,1939	187	178	181		251	4.4	1	11	dbSNP_126	181	1277,7319	255.1+/-280.1	116,1045,3137	yes	missense	OR51F2	NM_001004753.1	94	121,1302,5076	GG,GA,AA		14.8557,6.0654,11.8788	probably-damaging	84/343	4842866	1544,11454	2201	4298	6499	SO:0001583	missense	119694	exon1			CCACAGACCTGAG	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.251A>G	11.37:g.4842866A>G	ENSP00000323952:p.Asp84Gly	Somatic	195	1	0.00512821		WXS	Illumina HiSeq	Phase_I	159	85	0.534591	NM_001004753	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	CCDS31361.1	188	0.08608058608058608	17	0.034552845528455285	51	0.1408839779005525	0	0.0	120	0.158311345646438	A	18.59	3.656456	0.67586	0.060654	0.148557	ENSG00000176925	ENST00000322110	T	0.67523	-0.27	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000666	T	0.01730	0.0055	H	0.94462	3.54	0.27477	P	0.9526828	D	0.89917	1.0	D	0.78314	0.991	T	0.55554	-0.8123	9	0.87932	D	0	.	12.924	0.58249	1.0:0.0:0.0:0.0	rs35003053;rs61744403	84	Q8NH61	O51F2_HUMAN	G	84	ENSP00000323952:D84G	ENSP00000323952:D84G	D	+	2	0	OR51F2	4799442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.659000	0.68010	1.991000	0.58162	0.459000	0.35465	GAC	A|0.890;G|0.110	0.110	strong		0.473	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		G	4842866	A	G	4842866	3	3	23	1	0	0	0	0	1	0	0	0	11097	275	10	2	253	2	OR51F2	11	4842866	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	17641	4842866	130163650	2660	19116										
OR51F2	119694	hgsc.bcm.edu	37	chr11	4843164	4843164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaagaggttgtccttctgCagttctatggtcctttcaca	9	10	4	1	rs113211514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4843164C>T	ENST00000322110.5	+	1	614	c.549C>T	c.(547-549)tgC>tgT	p.C183C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCTTCTGCAGTTCTATGG	0.453													C|||	82	0.0163738	0.0008	0.0403	5008	,	,		25828	0.0		0.0527	False		,,,				2504	0.0				p.C183C		Atlas-SNP	.											.	OR51F2	72	.	0			c.C549T						PASS	.	C		38,4364	42.3+/-75.8	1,36,2164	303	267	279		549	2.7	0.7	11	dbSNP_132	279	350,8246	118.8+/-178.2	10,330,3958	no	coding-synonymous	OR51F2	NM_001004753.1		11,366,6122	TT,TC,CC		4.0717,0.8632,2.9851		183/343	4843164	388,12610	2201	4298	6499	SO:0001819	synonymous_variant	119694	exon1			CTTCTGCAGTTCT	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.549C>T	11.37:g.4843164C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	146	67	0.458904	NM_001004753	Q6IFI1	Silent	SNP	ENST00000322110.5	37	CCDS31361.1																																																																																			C|0.971;T|0.029	0.029	strong		0.453	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		T	4843164	C	T	4843164	2	4	23	1	0	0	0	0	0	0	0	1	11097	718	25	2		2	OR51F2	11	4843164	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	298	4843164	130163352	2661	19117										
OR51S1	119692	hgsc.bcm.edu	37	chr11	4869649	4869649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggttaatcagtgccaggaGgatcatagggatatagaaga	13	4	2	2	rs12361955	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4869649G>A	ENST00000322101.2	-	1	865	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	264			L -> F (in dbSNP:rs12361955).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGCCAGGAGGATCATAGGG	0.498													G|||	1499	0.299321	0.3411	0.2608	5008	,	,		19746	0.0675		0.4046	False		,,,				2504	0.4008				p.L264F		Atlas-SNP	.											OR51S1,NS,carcinoma,+2,1	OR51S1	83	1	0			c.C790T						PASS	.	G	PHE/LEU	1535,2867	485.3+/-360.3	273,989,939	112	96	102		790	3.3	1	11	dbSNP_120	102	3700,4896	528.7+/-381.4	805,2090,1403	yes	missense	OR51S1	NM_001004758.1	22	1078,3079,2342	AA,AG,GG		43.0433,34.8705,40.2754	benign	264/324	4869649	5235,7763	2201	4298	6499	SO:0001583	missense	119692	exon1			CCAGGAGGATCAT	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.790C>T	11.37:g.4869649G>A	ENSP00000322754:p.Leu264Phe	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	177	176	0.99435	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	621	0.28434065934065933	168	0.34146341463414637	120	0.3314917127071823	32	0.055944055944055944	301	0.3970976253298153	G	8.217	0.801715	0.16397	0.348705	0.430433	ENSG00000176922	ENST00000322101	T	0.73363	-0.74	5.25	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.176237	0.27469	N	0.019222	T	0.00012	0.0000	N	0.04746	-0.17	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.12156	0.007	T	0.31668	-0.9935	9	0.87932	D	0	-11.6636	8.9594	0.35838	0.0843:0.295:0.6207:0.0	rs12361955;rs58301091;rs12361955	264	Q8NGJ8	O51S1_HUMAN	F	264	ENSP00000322754:L264F	ENSP00000322754:L264F	L	-	1	0	OR51S1	4826225	0.000000	0.05858	1.000000	0.80357	0.400000	0.30750	0.704000	0.25661	1.445000	0.47624	0.655000	0.94253	CTC	G|0.658;A|0.342	0.342	strong		0.498	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		A	4869649	G	A	4869649	3	1	23	1	0	0	0	0	1	0	0	0	11105	1000	35	2	184	2	OR51S1	11	4869649	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	26485	4869649	130136867	2662	19118			15	84	78698	5	5	636	N	G_A	3.561054e-06
OR51S1	119692	hgsc.bcm.edu	37	chr11	4869906	4869906	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgggttaggacctgtgggAggcagtagggcatgtaggcc	18	6	0	0	rs7117260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4869906A>C	ENST00000322101.2	-	1	608	c.533T>G	c.(532-534)cTc>cGc	p.L178R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	178			L -> R (in dbSNP:rs7117260).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCTGTGGGAGGCAGTAGGG	0.527													c|||	2513	0.501797	0.6233	0.4135	5008	,	,		19677	0.0942		0.6054	False		,,,				2504	0.7137				p.L178R		Atlas-SNP	.											.	OR51S1	83	.	0			c.T533G						PASS	.	T	ARG/LEU	2633,1769	524.3+/-371.3	812,1009,380	105	108	107		533	-8.9	0	11	dbSNP_116	107	5384,3212	485.0+/-371.5	1678,2028,592	yes	missense	OR51S1	NM_001004758.1	102	2490,3037,972	CC,CA,AA		37.3662,40.1863,38.3213	benign	178/324	4869906	8017,4981	2201	4298	6499	SO:0001583	missense	119692	exon1			TGTGGGAGGCAGT	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.533T>G	11.37:g.4869906A>C	ENSP00000322754:p.Leu178Arg	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	93	92	0.989247	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	965	0.44184981684981683	300	0.6097560975609756	175	0.48342541436464087	48	0.08391608391608392	442	0.58311345646438	c	0.007	-1.965406	0.00461	0.598137	0.626338	ENSG00000176922	ENST00000322101	T	0.36878	1.23	5.25	-8.88	0.00789	GPCR, rhodopsin-like superfamily (1);	1.124130	0.06837	N	0.794977	T	0.00012	0.0000	N	0.00204	-1.855	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	9	0.02654	T	1	-5.0E-4	11.6806	0.51455	0.1617:0.5479:0.0:0.2904	rs7117260;rs52824745;rs58968377;rs7117260	178	Q8NGJ8	O51S1_HUMAN	R	178	ENSP00000322754:L178R	ENSP00000322754:L178R	L	-	2	0	OR51S1	4826482	0.000000	0.05858	0.000000	0.03702	0.413000	0.31143	-5.132000	0.00148	-2.327000	0.00636	-2.069000	0.00389	CTC	A|0.479;C|0.521	0.521	strong		0.527	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		C	4869906	A	C	4869906	3	2	23	1	0	0	0	0	1	0	0	0	11105	304	11	5	441	5	OR51S1	11	4869906	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	257	4869906	130136610	2663	19119			15	84	78698	5	5	636	N	G_A	3.561054e-06
OR51S1	119692	hgsc.bcm.edu	37	chr11	4870139	4870139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaggcaggctgaggcaggGacagtgtgagcaccagcaag	17	8	0	3	rs11602455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4870139G>A	ENST00000322101.2	-	1	375	c.300C>T	c.(298-300)gtC>gtT	p.V100V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGGCAGGGACAGTGTGAG	0.527													G|||	1195	0.238618	0.1203	0.2421	5008	,	,		21161	0.0675		0.4046	False		,,,				2504	0.4018				p.V100V		Atlas-SNP	.											.	OR51S1	83	.	0			c.C300T						PASS	.	G		750,3652	305.5+/-289.0	77,596,1528	114	97	103		300	1.5	0.8	11	dbSNP_120	103	3690,4906	527.8+/-381.2	802,2086,1410	no	coding-synonymous	OR51S1	NM_001004758.1		879,2682,2938	AA,AG,GG		42.9269,17.0377,34.1591		100/324	4870139	4440,8558	2201	4298	6499	SO:0001819	synonymous_variant	119692	exon1			GGCAGGGACAGTG	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.300C>T	11.37:g.4870139G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	124	120	0.967742	NM_001004758	B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	CCDS31362.1																																																																																			G|0.691;A|0.309	0.309	strong		0.527	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		A	4870139	G	A	4870139	2	1	23	1	0	0	0	0	0	0	0	1	11105	1161	41	2		2	OR51S1	11	4870139	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	233	4870139	130136377	2664	19120			15	84	78698	5	5	636	N	G_A	3.561054e-06
OR51S1	119692	hgsc.bcm.edu	37	chr11	4870261	4870261	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggcggtgcagggcgggctGcagggcaatgatccagagga	20	8	0	2	rs11602499	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4870261G>C	ENST00000322101.2	-	1	253	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	60			Q -> E (in dbSNP:rs11602499).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCGGGCTGCAGGGCAATG	0.567													C|||	1373	0.274161	0.2352	0.2579	5008	,	,		20052	0.0675		0.4066	False		,,,				2504	0.4151				p.Q60E		Atlas-SNP	.											.	OR51S1	83	.	0			c.C178G						PASS	.	C	GLU/GLN	1237,3165	705.5+/-407.3	183,871,1147	109	88	95		178	4.8	0.2	11	dbSNP_120	95	3700,4896	619.9+/-397.0	805,2090,1403	yes	missense	OR51S1	NM_001004758.1	29	988,2961,2550	CC,CG,GG		43.0433,28.1009,37.9828	benign	60/324	4870261	4937,8061	2201	4298	6499	SO:0001583	missense	119692	exon1			CGGGCTGCAGGGC	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.178C>G	11.37:g.4870261G>C	ENSP00000322754:p.Gln60Glu	Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	290	290	1	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	573	0.2623626373626374	121	0.2459349593495935	118	0.3259668508287293	32	0.055944055944055944	302	0.39841688654353563	C	0.003	-2.537173	0.00143	0.281009	0.430433	ENSG00000176922	ENST00000322101	T	0.02709	4.19	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.173223	0.27460	N	0.019276	T	0.00012	0.0000	N	0.00157	-1.96	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42447	-0.9451	9	0.02654	T	1	-1.7637	14.1463	0.65353	0.0:0.8486:0.1514:0.0	rs11602499;rs17328866;rs61047571;rs11602499	60	Q8NGJ8	O51S1_HUMAN	E	60	ENSP00000322754:Q60E	ENSP00000322754:Q60E	Q	-	1	0	OR51S1	4826837	0.000000	0.05858	0.205000	0.23548	0.102000	0.19082	0.343000	0.19944	1.277000	0.44412	-0.215000	0.12644	CAG	G|0.673;C|0.327	0.327	strong		0.567	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		C	4870261	G	C	4870261	3	2	23	1	0	0	0	0	1	0	0	0	11105	1328	46	4	796	4	OR51S1	11	4870261	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	122	4870261	130136255	2665	19121			15	84	78698	5	5	636	N	G_A	3.561054e-06
OR51S1	119692	hgsc.bcm.edu	37	chr11	4870284	4870284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcaatgatccagaggatgGtgccatttcccagtgcagag	14	9	0	3	rs35918613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4870284G>C	ENST00000322101.2	-	1	230	c.155C>G	c.(154-156)aCc>aGc	p.T52S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGAGGATGGTGCCATTTCC	0.562													G|||	249	0.0497204	0.0136	0.0937	5008	,	,		20000	0.0		0.1481	False		,,,				2504	0.0174				p.T52S		Atlas-SNP	.											.	OR51S1	83	.	0			c.C155G						PASS	.	G	SER/THR	165,4237	109.9+/-148.2	3,159,2039	110	89	96		155	3.2	0	11	dbSNP_126	96	1167,7429	239.4+/-270.5	98,971,3229	yes	missense	OR51S1	NM_001004758.1	58	101,1130,5268	CC,CG,GG		13.5761,3.7483,10.2477	possibly-damaging	52/324	4870284	1332,11666	2201	4298	6499	SO:0001583	missense	119692	exon1			AGGATGGTGCCAT	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.155C>G	11.37:g.4870284G>C	ENSP00000322754:p.Thr52Ser	Somatic	336	0	0		WXS	Illumina HiSeq	Phase_I	287	143	0.498258	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	166	0.076007326007326	8	0.016260162601626018	47	0.1298342541436464	0	0.0	111	0.14643799472295516	G	5.974	0.363637	0.11296	0.037483	0.135761	ENSG00000176922	ENST00000322101	T	0.72167	-0.63	5.12	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.148610	0.31233	N	0.008005	T	0.00552	0.0018	L	0.47190	1.495	0.80722	P	0.0	P	0.35793	0.521	B	0.38378	0.272	T	0.21518	-1.0243	9	0.38643	T	0.18	-10.8146	8.4532	0.32884	0.2454:0.0:0.7546:0.0	rs35918613;rs61744402	52	Q8NGJ8	O51S1_HUMAN	S	52	ENSP00000322754:T52S	ENSP00000322754:T52S	T	-	2	0	OR51S1	4826860	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	0.091000	0.15046	1.390000	0.46547	0.563000	0.77884	ACC	G|0.898;C|0.102	0.102	strong		0.562	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		C	4870284	G	C	4870284	3	2	23	1	0	0	0	0	1	0	0	0	11105	1261	44	4	819	4	OR51S1	11	4870284	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23	4870284	130136232	2666	19122			15	84	78698	5	5	636	N	G_A	3.561054e-06
OR51A2	401667	hgsc.bcm.edu	37	chr11	4976291	4976291	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttgaggatcagggtgtaaGacacagcaatgagaataaag	12	5	2	3	rs55889636	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:4976291G>A	ENST00000380371.1	-	1	652	c.653C>T	c.(652-654)tCt>tTt	p.S218F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGTGTAAGACACAGCAAT	0.428													.|||	1878	0.375	0.3722	0.3905	5008	,	,		14851	0.379		0.4841	False		,,,				2504	0.2515				p.S218F		Atlas-SNP	.											OR51A2,NS,carcinoma,0,1	OR51A2	40	1	0			c.C653T						scavenged	.		PHE/SER	1533,2741		432,669,1036	80	62	68		653	3.1	0.1	11	dbSNP_129	68	3770,4262		1350,1070,1596	yes	missense	OR51A2	NM_001004748.1	155	1782,1739,2632	AA,AG,GG		46.9373,35.868,43.0928	probably-damaging	218/314	4976291	5303,7003	2137	4016	6153	SO:0001583	missense	401667	exon1			GTGTAAGACACAG	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.653C>T	11.37:g.4976291G>A	ENSP00000369729:p.Ser218Phe	Somatic	38	1	0.0263158		WXS	Illumina HiSeq	Phase_I	521	161	0.309021	NM_001004748		Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	802	0.36721611721611724	148	0.3008130081300813	117	0.32320441988950277	194	0.33916083916083917	343	0.4525065963060686	-	16.73	3.204617	0.58234	0.35868	0.469373	ENSG00000205496	ENST00000380371	T	0.42513	0.97	3.13	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	H	0.96208	3.785	0.32076	P	0.5937319999999999	D	0.89917	1.0	D	0.97110	1.0	T	0.42224	-0.9464	8	0.87932	D	0	.	13.3431	0.60555	0.0:0.0:1.0:0.0	rs55889636	218	Q8NGJ7	O51A2_HUMAN	F	218	ENSP00000369729:S218F	ENSP00000369729:S218F	S	-	2	0	OR51A2	4932867	0.998000	0.40836	0.057000	0.19452	0.032000	0.12392	5.391000	0.66266	1.757000	0.51966	0.395000	0.25975	TCT	G|0.661;A|0.339	0.339	strong		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		A	4976291	G	A	4976291	3	1	23	1	0	0	0	0	1	0	0	0	11086	942	33	2	290	2	OR51A2	11	4976291	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	106007	4976291	130030225	2667	19123										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068297	5068297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cataatagcccattcctactGtgagcacatgggcattgcaa	8	11	0	1	rs58664826	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5068297G>A	ENST00000380370.1	+	1	542	c.542G>A	c.(541-543)tGt>tAt	p.C181Y		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTCCTACTGTGAGCACATG	0.423													G|||	504	0.100639	0.0242	0.2767	5008	,	,		23123	0.0863		0.1372	False		,,,				2504	0.0562				p.C181Y		Atlas-SNP	.											.	OR52J3	77	.	0			c.G542A						PASS	.	G	TYR/CYS	164,4238	109.5+/-147.8	2,160,2039	198	169	179		542	4.2	1	11	dbSNP_129	179	1059,7537	224.4+/-260.8	66,927,3305	yes	missense	OR52J3	NM_001001916.2	194	68,1087,5344	AA,AG,GG		12.3197,3.7256,9.4091	probably-damaging	181/312	5068297	1223,11775	2201	4298	6499	SO:0001583	missense	119679	exon1			CCTACTGTGAGCA	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.542G>A	11.37:g.5068297G>A	ENSP00000369728:p.Cys181Tyr	Somatic	461	1	0.0021692		WXS	Illumina HiSeq	Phase_I	379	173	0.456464	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	250	0.11446886446886446	11	0.022357723577235773	78	0.2154696132596685	62	0.10839160839160839	99	0.13060686015831136	G	19.90	3.912644	0.72983	0.037256	0.123197	ENSG00000205495	ENST00000380370	T	0.61980	0.06	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.00210	0.0006	M	0.94101	3.495	0.21290	P	0.999736777	D	0.89917	1.0	D	0.97110	1.0	T	0.09618	-1.0666	9	0.87932	D	0	.	15.2669	0.73669	0.0:0.0:1.0:0.0	rs58664826;rs61729561	181	Q8NH60	O52J3_HUMAN	Y	181	ENSP00000369728:C181Y	ENSP00000369728:C181Y	C	+	2	0	OR52J3	5024873	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.316000	0.79007	2.143000	0.66587	0.655000	0.94253	TGT	G|0.894;A|0.106	0.106	strong		0.423	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		A	5068297	G	A	5068297	3	1	23	1	0	0	0	0	1	0	0	0	11122	1377	48	2	544	2	OR52J3	11	5068297	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	92006	5068297	129938219	2668	19124										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068431	5068431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtttacattctccgtgctGtcttccgcctcccatcacat	5	15	3	0	rs17350764	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5068431G>A	ENST00000380370.1	+	1	676	c.676G>A	c.(676-678)Gtc>Atc	p.V226I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	226			V -> I (in dbSNP:rs17350764).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCGTGCTGTCTTCCGCCT	0.443													G|||	1114	0.222444	0.2519	0.3372	5008	,	,		21888	0.1081		0.1829	False		,,,				2504	0.2597				p.V226I		Atlas-SNP	.											OR52J3,right_upper_lobe,carcinoma,-2,1	OR52J3	77	1	0			c.G676A						scavenged	.	G	ILE/VAL	1079,3323	392.8+/-328.6	139,801,1261	338	302	314		676	3.3	0.9	11	dbSNP_123	314	1605,6991	298.6+/-304.0	159,1287,2852	yes	missense	OR52J3	NM_001001916.2	29	298,2088,4113	AA,AG,GG		18.6715,24.5116,20.6493	probably-damaging	226/312	5068431	2684,10314	2201	4298	6499	SO:0001583	missense	119679	exon1			CGTGCTGTCTTCC	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.676G>A	11.37:g.5068431G>A	ENSP00000369728:p.Val226Ile	Somatic	518	4	0.00772201		WXS	Illumina HiSeq	Phase_I	444	230	0.518018	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	431	0.19734432234432234	124	0.25203252032520324	104	0.287292817679558	71	0.12412587412587413	132	0.1741424802110818	G	12.36	1.915057	0.33815	0.245116	0.186715	ENSG00000205495	ENST00000380370	T	0.00224	8.51	4.19	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.163104	0.28393	N	0.015504	T	0.00012	0.0000	M	0.69463	2.115	0.80722	P	0.0	D	0.57899	0.981	P	0.61070	0.883	T	0.52335	-0.8589	9	0.66056	D	0.02	.	7.7255	0.28757	0.1939:0.0:0.8061:0.0	rs17350764;rs57530495;rs17350764	226	Q8NH60	O52J3_HUMAN	I	226	ENSP00000369728:V226I	ENSP00000369728:V226I	V	+	1	0	OR52J3	5025007	0.109000	0.22037	0.924000	0.36721	0.042000	0.13812	0.668000	0.25127	0.970000	0.38263	-0.126000	0.14955	GTC	G|0.792;A|0.208	0.208	strong		0.443	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		A	5068431	G	A	5068431	3	1	23	1	0	0	0	0	1	0	0	0	11122	1377	48	2	678	2	OR52J3	11	5068431	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	134	5068431	129938085	2669	19125										
OR52J3	119679	hgsc.bcm.edu	37	chr11	5068662	5068662	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaccaaacagattcgagaaCgagtgctctatgtttttact	9	8	1	2	rs386750099|rs57026471	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5068662C>T	ENST00000380370.1	+	1	907	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCGAGAACGAGTGCTCTA	0.383													C|||	567	0.113219	0.0673	0.2853	5008	,	,		21243	0.0863		0.1372	False		,,,				2504	0.0562				p.R303X		Atlas-SNP	.											.	OR52J3	77	.	0			c.C907T						PASS	.	C	stop/ARG	265,4137		9,247,1945	57	54	55		907	-5.8	0	11	dbSNP_129	55	810,7786		65,680,3553	yes	stop-gained	OR52J3	NM_001001916.2		74,927,5498	TT,TC,CC		9.423,6.02,8.2705		303/312	5068662	1075,11923	2201	4298	6499	SO:0001587	stop_gained	119679	exon1			CGAGAACGAGTGC	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.907C>T	11.37:g.5068662C>T	ENSP00000369728:p.Arg303*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	66	39	0.590909	NM_001001916	Q6IFE4	Nonsense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	249	0.11401098901098901	27	0.054878048780487805	70	0.19337016574585636	59	0.10314685314685315	93	0.12269129287598944	C	9.770	1.172462	0.21704	0.0602	0.09423	ENSG00000205495	ENST00000380370	.	.	.	4.19	-5.75	0.02384	.	1.063770	0.07513	N	0.909200	.	.	.	.	.	.	0.40923	P	0.015674999999999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0031	0.14275	0.3115:0.1927:0.0:0.4958	rs57026471;rs61747641	.	.	.	X	303	.	ENSP00000369728:R303X	R	+	1	2	OR52J3	5025238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.028000	0.00639	-0.806000	0.04398	-1.808000	0.00615	CGA	C|0.886;T|0.114	0.114	strong		0.383	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068662	C	T	5068662	4	4	23	1	0	0	0	0	0	1	0	0	11122	528	19	1	909	1	OR52J3	11	5068662	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	231	5068662	129937854	2670	19126										
OR52E2	119678	hgsc.bcm.edu	37	chr11	5080337	5080337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtaggtgtggggaattacaTgattcccacagaagggcaac	13	7	0	2	rs61746343	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5080337T>C	ENST00000321522.2	-	1	520	c.521A>G	c.(520-522)cAt>cGt	p.H174R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGAATTACATGATTCCCACA	0.398													T|||	1048	0.209265	0.2746	0.3559	5008	,	,		22989	0.0873		0.2237	False		,,,				2504	0.1278				p.H174R		Atlas-SNP	.											.	OR52E2	63	.	0			c.A521G						PASS	.	T	ARG/HIS	1160,3242	409.5+/-335.0	154,852,1195	86	80	82		521	-1.2	0.1	11	dbSNP_129	82	1773,6823	320.7+/-314.7	174,1425,2699	yes	missense	OR52E2	NM_001005164.2	29	328,2277,3894	CC,CT,TT		20.6259,26.3517,22.565	benign	174/326	5080337	2933,10065	2201	4298	6499	SO:0001583	missense	119678	exon1			ATTACATGATTCC	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.521A>G	11.37:g.5080337T>C	ENSP00000322088:p.His174Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_001005164		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	466	0.21336996336996336	136	0.2764227642276423	104	0.287292817679558	62	0.10839160839160839	164	0.21635883905013192	T	0.098	-1.156324	0.01686	0.263517	0.206259	ENSG00000176787	ENST00000321522	T	0.00063	8.78	3.76	-1.16	0.09678	GPCR, rhodopsin-like superfamily (1);	1.067990	0.07299	N	0.873832	T	0.00012	0.0000	L	0.33189	0.99	0.58432	P	1.0000000000287557E-6	B	0.09022	0.002	B	0.15484	0.013	T	0.00330	-1.1812	9	0.10111	T	0.7	.	8.6192	0.33851	0.0:0.3152:0.0:0.6848	rs61746343	174	Q8NGJ4	O52E2_HUMAN	R	174	ENSP00000322088:H174R	ENSP00000322088:H174R	H	-	2	0	OR52E2	5036913	0.000000	0.05858	0.149000	0.22428	0.832000	0.47134	-0.595000	0.05727	-0.211000	0.10124	-0.262000	0.10625	CAT	T|0.770;C|0.230	0.230	strong		0.398	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		C	5080337	T	C	5080337	3	2	23	1	0	0	0	0	1	0	0	0	11115	1464	51	2	459	2	OR52E2	11	5080337	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11675	5080337	129926179	2671	19127										
OR52A5	390054	hgsc.bcm.edu	37	chr11	5153261	5153261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctaggattgcaaaggcaacAaataggccatatatcttgtt	8	8	1	0	rs2472530	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5153261A>G	ENST00000307388.1	-	1	611	c.612T>C	c.(610-612)ttT>ttC	p.F204F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAGGCAACAAATAGGCCAT	0.423													A|||	995	0.198682	0.0144	0.232	5008	,	,		23011	0.3929		0.2028	False		,,,				2504	0.2198				p.F204F		Atlas-SNP	.											.	OR52A5	80	.	0			c.T612C						PASS	.	A		220,4182	131.0+/-167.6	7,206,1988	108	104	105		612	5.1	1	11	dbSNP_100	105	1823,6773	326.6+/-317.4	213,1397,2688	no	coding-synonymous	OR52A5	NM_001005160.2		220,1603,4676	GG,GA,AA		21.2075,4.9977,15.7178		204/317	5153261	2043,10955	2201	4298	6499	SO:0001819	synonymous_variant	390054	exon1			GGCAACAAATAGG	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.612T>C	11.37:g.5153261A>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	55	0.462185	NM_001005160		Silent	SNP	ENST00000307388.1	37	CCDS31373.1																																																																																			A|0.815;G|0.185	0.185	strong		0.423	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		G	5153261	A	G	5153261	2	3	23	1	0	0	0	0	0	0	0	1	11110	127	5	2		2	OR52A5	11	5153261	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	72924	5153261	129853255	2672	19128										
OR51B4	79339	hgsc.bcm.edu	37	chr11	5322520	5322520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaatgcccatcactgtcttGaggattagtatataagaaaa	8	7	2	2	rs12283334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5322520G>A	ENST00000380224.1	-	1	706	c.657C>T	c.(655-657)ctC>ctT	p.L219L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACTGTCTTGAGGATTAGTA	0.373													G|||	986	0.196885	0.1354	0.2651	5008	,	,		21963	0.1458		0.2565	False		,,,				2504	0.2229				p.L219L		Atlas-SNP	.											.	OR51B4	64	.	0			c.C657T						PASS	.	G		631,3771	272.5+/-270.8	48,535,1618	72	69	70		657	-8.8	0	11	dbSNP_120	70	2408,6186	399.7+/-346.5	328,1752,2217	no	coding-synonymous	OR51B4	NM_033179.2		376,2287,3835	AA,AG,GG		28.0195,14.3344,23.3841		219/311	5322520	3039,9957	2201	4297	6498	SO:0001819	synonymous_variant	79339	exon1			TGTCTTGAGGATT	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.657C>T	11.37:g.5322520G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	84	83	0.988095	NM_033179	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																			G|0.775;A|0.225	0.225	strong		0.373	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		A	5322520	G	A	5322520	2	1	23	1	0	0	0	0	0	0	0	1	11090	1277	45	2		2	OR51B4	11	5322520	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	169259	5322520	129683996	2673	19129										
OR51B2	79345	hgsc.bcm.edu	37	chr11	5344592	5344592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attctccagatccgagtttaActactaaacctatgtttaga	5	9	1	2	rs11036814	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5344592A>C	ENST00000328813.2	-	1	990	c.936T>G	c.(934-936)agT>agG	p.S312R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	312			S -> R (in dbSNP:rs11036814). {ECO:0000269|PubMed:10220430}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S312R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGAGTTTAACTACTAAACC	0.378													A|||	491	0.0980431	0.0113	0.1182	5008	,	,		20745	0.123		0.165	False		,,,				2504	0.1063				p.S312R		Atlas-SNP	.											OR51B2,NS,carcinoma,0,1	OR51B2	69	1	1	Substitution - Missense(1)	stomach(1)	c.T936G						PASS	.	A	ARG/SER	178,4224	109.1+/-147.4	2,174,2025	60	58	59		936	1.8	0	11	dbSNP_120	59	1353,7241	256.2+/-280.8	97,1159,3041	yes	missense	OR51B2	NM_033180.4	110	99,1333,5066	CC,CA,AA		15.7435,4.0436,11.7805	possibly-damaging	312/313	5344592	1531,11465	2201	4297	6498	SO:0001583	missense	79345	exon1			AGTTTAACTACTA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.936T>G	11.37:g.5344592A>C	ENSP00000327540:p.Ser312Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_033180	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	267	0.12225274725274725	9	0.018292682926829267	42	0.11602209944751381	91	0.1590909090909091	125	0.16490765171503957	A	11.46	1.645446	0.29246	0.040436	0.157435	ENSG00000184881	ENST00000328813	T	0.00005	9.79	4.1	1.78	0.24846	.	0.780759	0.10783	U	0.634602	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.11235	0.004	B	0.08055	0.003	T	0.04165	-1.0972	9	0.87932	D	0	.	5.3809	0.16192	0.7866:0.0:0.2134:0.0	rs11036814;rs52827869;rs58407994;rs11036814	312	Q9Y5P1	O51B2_HUMAN	R	312	ENSP00000327540:S312R	ENSP00000327540:S312R	S	-	3	2	OR51B2	5301168	0.009000	0.17119	0.006000	0.13384	0.032000	0.12392	0.153000	0.16323	1.521000	0.48983	0.519000	0.50382	AGT	A|0.880;C|0.120	0.120	strong		0.378	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		C	5344592	A	C	5344592	3	2	23	1	0	0	0	0	1	0	0	0	11089	40	2	5	6	5	OR51B2	11	5344592	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22072	5344592	129661924	2674	19130										
OR51B6	390058	hgsc.bcm.edu	37	chr11	5373309	5373309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctagcctgtgctgacatcaCcttcaaccgtctctatccag	7	15	3	1	rs386750142|rs115333544	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5373309C>A	ENST00000380219.1	+	1	572	c.572C>A	c.(571-573)aCc>aAc	p.T191N	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	191					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGACATCACCTTCAACCGT	0.433													C|||	417	0.0832668	0.1021	0.0793	5008	,	,		23860	0.0675		0.0497	False		,,,				2504	0.1115				p.T191N		Atlas-SNP	.											.	OR51B6	53	.	0			c.C572A						PASS	.						223	196	205					11																	5373309		2201	4297	6498	SO:0001583	missense	390058	exon1			ACATCACCTTCAA		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.572C>A	11.37:g.5373309C>A	ENSP00000369568:p.Thr191Asn	Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	215	93	0.432558	NM_001004750		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	150	0.06868131868131869	58	0.11788617886178862	32	0.08839779005524862	26	0.045454545454545456	34	0.044854881266490766	C	14.26	2.481377	0.44147	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00091	8.74	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.496162	0.17579	N	0.169198	T	0.00012	0.0000	M	0.78049	2.395	0.36857	P	0.111792	D	0.55800	0.973	D	0.64687	0.928	T	0.57124	-0.7865	9	0.62326	D	0.03	.	8.3851	0.32494	0.1543:0.7632:0.0:0.0824	.	191	Q9H340	O51B6_HUMAN	N	190;191	ENSP00000369568:T191N	ENSP00000369568:T191N	T	+	2	0	OR51B6	5329885	0.000000	0.05858	0.998000	0.56505	0.676000	0.39594	-0.838000	0.04372	1.399000	0.46721	0.557000	0.71058	ACC	C|0.937;A|0.063	0.063	strong		0.433	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373309	C	A	5373309	3	1	23	1	0	0	0	0	1	0	0	0	11092	507	18	4	574	4	OR51B6	11	5373309	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28717	5373309	129633207	2675	19131										
OR51Q1	390061	hgsc.bcm.edu	37	chr11	5444150	5444150	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgagcgactccgtgccctCaataactgcctgtcccacat	8	16	1	1	rs118011081	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5444150C>T	ENST00000300778.4	+	1	810	c.720C>T	c.(718-720)ctC>ctT	p.L240L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGTGCCCTCAATAACTGCC	0.488													C|||	45	0.00898562	0.0	0.0187	5008	,	,		20993	0.0		0.0278	False		,,,				2504	0.0041				p.L240L		Atlas-SNP	.											.	OR51Q1	79	.	0			c.C720T						PASS	.	C		21,4381	28.1+/-56.4	0,21,2180	137	114	122		720	3.1	0.9	11	dbSNP_132	122	170,8424	79.5+/-142.1	0,170,4127	no	coding-synonymous	OR51Q1	NM_001004757.2		0,191,6307	TT,TC,CC		1.9781,0.4771,1.4697		240/318	5444150	191,12805	2201	4297	6498	SO:0001819	synonymous_variant	390061	exon1			TGCCCTCAATAAC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.720C>T	11.37:g.5444150C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	129	74	0.573643	NM_001004757	B2RNN1	Silent	SNP	ENST00000300778.4	37	CCDS31381.1																																																																																			C|0.985;T|0.015	0.015	strong		0.488	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5444150	C	T	5444150	2	4	23	1	0	0	0	0	0	0	0	1	11104	813	29	2		2	OR51Q1	11	5444150	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	70841	5444150	129562366	2676	19132										
OR51I1	390063	hgsc.bcm.edu	37	chr11	5461861	5461861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatctccttggttttcacaCtgtagatgatagggttgagc	12	7	2	3	rs76233016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5461861C>G	ENST00000380211.1	-	1	883	c.884G>C	c.(883-885)aGt>aCt	p.S295T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTTTCACACTGTAGATGAT	0.478													C|||	18	0.00359425	0.0	0.0086	5008	,	,		19623	0.0		0.0119	False		,,,				2504	0.0				p.S295T		Atlas-SNP	.											.	OR51I1	66	.	0			c.G884C						PASS	.	C	THR/SER	11,4391	17.9+/-39.9	0,11,2190	120	114	116		884	4.5	1	11	dbSNP_132	116	50,8544	31.7+/-84.0	0,50,4247	yes	missense	OR51I1	NM_001005288.2	58	0,61,6437	GG,GC,CC		0.5818,0.2499,0.4694	benign	295/315	5461861	61,12935	2201	4297	6498	SO:0001583	missense	390063	exon1			TTCACACTGTAGA	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.884G>C	11.37:g.5461861C>G	ENSP00000369559:p.Ser295Thr	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	125	75	0.6	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	13	0.005952380952380952	0	0.0	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	10.13	1.265693	0.23136	0.002499	0.005818	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.37752	1.18	5.47	4.54	0.55810	.	0.096735	0.47093	D	0.000243	T	0.26774	0.0655	M	0.75884	2.315	0.25867	N	0.983753	P	0.48764	0.915	B	0.32677	0.15	T	0.37526	-0.9702	10	0.51188	T	0.08	.	14.2494	0.66009	0.0:0.7161:0.2839:0.0	.	295	Q9H343	O51I1_HUMAN	T	292;295	ENSP00000369559:S295T	ENSP00000439622:S292T	S	-	2	0	OR51I1	5418437	0.045000	0.20229	0.998000	0.56505	0.339000	0.28857	2.449000	0.44935	1.289000	0.44618	0.551000	0.68910	AGT	C|0.994;G|0.006	0.006	strong		0.478	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		G	5461861	C	G	5461861	3	3	23	1	0	0	0	0	1	0	0	0	11100	565	20	4	64	4	OR51I1	11	5461861	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17711	5461861	129544655	2677	19133										
TRIM34	53840	hgsc.bcm.edu	37	chr11	5664831	5664831	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaatgtcacaagccatggCtccctcatttacaagttctc	5	13	4	0	rs3740998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5664831C>A	ENST00000514226.1	+	8	1696	c.1359C>A	c.(1357-1359)ggC>ggA	p.G453G	TRIM6-TRIM34_ENST00000354852.5_Silent_p.G807G|TRIM34_ENST00000429814.2_Silent_p.G453G|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Silent_p.G453G|TRIM34_ENST00000495668.1_3'UTR	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	453	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)		CAAGCCATGGCTCCCTCATTT	0.463													C|||	1892	0.377796	0.2103	0.438	5008	,	,		20145	0.6458		0.2306	False		,,,				2504	0.4366				p.G807G		Atlas-SNP	.											.	TRIM6-TRIM34	68	.	0			c.C2421A						PASS	.	C	,,	1044,3358	383.2+/-324.8	133,778,1290	150	145	147		2421,1359,1359	-1.6	0.5	11	dbSNP_107	147	2042,6552	354.9+/-329.7	252,1538,2507	no	coding-synonymous,coding-synonymous,coding-synonymous	TRIM34,TRIM6-TRIM34	NM_001003819.3,NM_001003827.1,NM_021616.5	,,	385,2316,3797	AA,AC,CC		23.7608,23.7165,23.7458	,,	807/843,453/489,453/489	5664831	3086,9910	2201	4297	6498	SO:0001819	synonymous_variant	445372	exon14			CCATGGCTCCCTC	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.1359C>A	11.37:g.5664831C>A		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	243	130	0.534979	NM_001003819	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP	ENST00000514226.1	37	CCDS31391.1																																																																																			C|0.716;A|0.284	0.284	strong		0.463	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		A	5664831	C	A	5664831	2	1	23	1	0	0	0	0	0	0	0	1	16505	784	28	4		4	TRIM34	11	5664831	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	202970	5664831	129341685	2678	19134										
TRIM22	10346	hgsc.bcm.edu	37	chr11	5729419	5729419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaggagtgaaagctggacaTtgaagaagccaaaatctgtt	11	6	1	3	rs112606816	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5729419T>C	ENST00000379965.3	+	6	1067	c.790T>C	c.(790-792)Ttg>Ctg	p.L264L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	264					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AAGCTGGACATTGAAGAAGCC	0.413													T|||	13	0.00259585	0.0008	0.0086	5008	,	,		21253	0.0		0.005	False		,,,				2504	0.001				p.L264L	GBM(104;491 2336 5222)	Atlas-SNP	.											.	TRIM22	66	.	0			c.T790C						PASS	.	T	,	13,3775		0,13,1881	126	121	123		778,790	-8.1	0	11	dbSNP_132	123	66,8196		0,66,4065	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	0,79,5946	CC,CT,TT		0.7988,0.3432,0.6556	,	260/495,264/499	5729419	79,11971	1894	4131	6025	SO:0001819	synonymous_variant	10346	exon6			TGGACATTGAAGA	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.790T>C	11.37:g.5729419T>C		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	57	26	0.45614	NM_006074	Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	CCDS41612.1																																																																																			A|0.000;C|0.006;T|0.993	0.006	strong		0.413	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		C	5729419	T	C	5729419	2	2	23	1	0	0	0	0	0	0	0	1	16493	1490	52	2		2	TRIM22	11	5729419	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64588	5729419	129277097	2679	19135										
TRIM22	10346	hgsc.bcm.edu	37	chr11	5730294	5730294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctacagtggacgtgatgCtgaatccaggcagtgccact	11	10	1	2	rs61735276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5730294C>T	ENST00000379965.3	+	8	1190	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	305	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GGACGTGATGCTGAATCCAGG	0.398													C|||	166	0.033147	0.0257	0.0418	5008	,	,		20353	0.0		0.0437	False		,,,				2504	0.0603				p.L305L	GBM(104;491 2336 5222)	Atlas-SNP	.											.	TRIM22	66	.	0			c.C913T						PASS	.	C	,	94,3848		0,94,1877	107	99	101		901,913	0.1	0	11	dbSNP_129	101	312,8022		7,298,3862	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	7,392,5739	TT,TC,CC		3.7437,2.3846,3.3073	,	301/495,305/499	5730294	406,11870	1971	4167	6138	SO:0001819	synonymous_variant	10346	exon8			GTGATGCTGAATC	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.913C>T	11.37:g.5730294C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_006074	Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	CCDS41612.1																																																																																			C|0.969;T|0.031	0.031	strong		0.398	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		T	5730294	C	T	5730294	2	4	23	1	0	0	0	0	0	0	0	1	16493	796	28	2		2	TRIM22	11	5730294	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	875	5730294	129276222	2680	19136										
OR52N4	390072	hgsc.bcm.edu	37	chr11	5776484	5776484	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagctcctgccctactgcAgaggcaatatacttccccat	6	16	0	1	rs4910844	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5776484A>T	ENST00000317254.3	+	1	562	c.514A>T	c.(514-516)Aga>Tga	p.R172*	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GCCCTACTGCAGAGGCAATAT	0.473													A|||	1074	0.214457	0.1498	0.2262	5008	,	,		22836	0.1974		0.2783	False		,,,				2504	0.2454				p.R172X		Atlas-SNP	.											.	OR52N4	55	.	0			c.A514T	GRCh37	CM035853	OR52N4	M	rs4910844	PASS	.	A	stop/ARG	672,3688	253.4+/-259.3	59,554,1567	160	151	154		514	1.9	0.9	11	dbSNP_111	154	2035,6547	344.5+/-325.3	237,1561,2493	yes	stop-gained	OR52N4	NM_001005175.2		296,2115,4060	TT,TA,AA		23.7124,15.4128,20.9164		172/322	5776484	2707,10235	2180	4291	6471	SO:0001587	stop_gained	390072	exon1			TACTGCAGAGGCA	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.514A>T	11.37:g.5776484A>T	ENSP00000323224:p.Arg172*	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	157	156	0.993631	NM_001005175	B2RNP8|Q6IF77	Nonsense_Mutation	SNP	ENST00000317254.3	37	CCDS44528.1	469	0.21474358974358973	80	0.16260162601626016	75	0.20718232044198895	107	0.18706293706293706	207	0.27308707124010556	A	14.18	2.457090	0.43634	0.154128	0.237124	ENSG00000181074	ENST00000317254	.	.	.	5.97	1.94	0.25998	.	0.293923	0.24061	N	0.041914	.	.	.	.	.	.	0.09310	P	0.9999999999957012	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9115	0.24338	0.4539:0.4213:0.1247:0.0	rs4910844;rs52803254;rs4910844	.	.	.	X	172	.	ENSP00000323224:R172X	R	+	1	2	OR52N4	5733060	0.000000	0.05858	0.898000	0.35279	0.037000	0.13140	-0.704000	0.05058	0.451000	0.26802	0.455000	0.32223	AGA	A|0.784;T|0.216	0.216	strong		0.473	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		T	5776484	A	T	5776484	4	4	23	1	0	0	0	0	0	1	0	0	11129	180	7	5	516	5	OR52N4	11	5776484	Nonsense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	46190	5776484	129230032	2681	19137										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862532	5862532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatactgccaagaccaaacAtaatgttgactttgatgctg	7	8	0	3	rs10742809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5862532A>C	ENST00000329322.5	-	1	595	c.596T>G	c.(595-597)aTg>aGg	p.M199R	OR52E6_ENST00000379946.2_Missense_Mutation_p.M203R|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	199			M -> R (in dbSNP:rs10742809).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGACCAAACATAATGTTGAC	0.473													A|||	1644	0.328275	0.2224	0.304	5008	,	,		21378	0.4593		0.3439	False		,,,				2504	0.3374				p.M199R		Atlas-SNP	.											.	OR52E6	70	.	0			c.T596G						PASS	.	A	ARG/MET	1031,3371	373.4+/-320.8	122,787,1292	87	84	85		596	3.5	0	11	dbSNP_120	85	2800,5792	441.4+/-359.8	448,1904,1944	yes	missense	OR52E6	NM_001005167.1	91	570,2691,3236	CC,CA,AA		32.5885,23.4212,29.4828	benign	199/314	5862532	3831,9163	2201	4296	6497	SO:0001583	missense	390078	exon1			CCAAACATAATGT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.596T>G	11.37:g.5862532A>C	ENSP00000328878:p.Met199Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	122	51	0.418033	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	751	0.34386446886446886	102	0.2073170731707317	115	0.31767955801104975	264	0.46153846153846156	270	0.3562005277044855	A	8.103	0.777055	0.16120	0.234212	0.325885	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00084	8.75;8.75	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	1.217830	0.05771	N	0.606787	T	0.00012	0.0000	N	0.16201	0.385	0.80722	P	0.0	B	0.02656	0.0	B	0.10450	0.005	T	0.13335	-1.0513	9	0.48119	T	0.1	.	10.9113	0.47110	1.0:0.0:0.0:0.0	rs10742809;rs61269500;rs10742809	199	Q96RD3	O52E6_HUMAN	R	199;203	ENSP00000328878:M199R;ENSP00000369279:M203R	ENSP00000328878:M199R	M	-	2	0	OR52E6	5819108	0.000000	0.05858	0.003000	0.11579	0.564000	0.35744	0.650000	0.24858	1.430000	0.47334	0.450000	0.29827	ATG	A|0.670;C|0.330	0.330	strong		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		C	5862532	A	C	5862532	3	2	23	1	0	0	0	0	1	0	0	0	11117	217	8	5	347	5	OR52E6	11	5862532	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	86048	5862532	129143984	2682	19138										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5862731	5862731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgaggatcatggtgtaccAaagaggtttgcaaatggcaa	14	5	1	2	rs10838719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5862731A>G	ENST00000329322.5	-	1	396	c.397T>C	c.(397-399)Tgg>Cgg	p.W133R	OR52E6_ENST00000379946.2_Missense_Mutation_p.W137R|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	133			W -> R (in dbSNP:rs10838719).			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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGTACCAAAGAGGTTTG	0.473													A|||	1940	0.38738	0.2352	0.389	5008	,	,		21277	0.4593		0.5258	False		,,,				2504	0.3753				p.W133R		Atlas-SNP	.											OR52E6,NS,carcinoma,+2,2	OR52E6	70	2	0			c.T397C						scavenged	.	A	ARG/TRP	1206,3196	418.7+/-338.4	169,868,1164	207	187	194		397	-6.9	0	11	dbSNP_120	194	4339,4253	579.2+/-390.9	1071,2197,1028	no	missense	OR52E6	NM_001005167.1	101	1240,3065,2192	GG,GA,AA		49.4995,27.3966,42.6735	benign	133/314	5862731	5545,7449	2201	4296	6497	SO:0001583	missense	390078	exon1			TGTACCAAAGAGG	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.397T>C	11.37:g.5862731A>G	ENSP00000328878:p.Trp133Arg	Somatic	243	2	0.00823045		WXS	Illumina HiSeq	Phase_I	214	91	0.425234	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	864	0.3956043956043956	94	0.1910569105691057	141	0.38950276243093923	250	0.4370629370629371	379	0.5	a	0.012	-1.656056	0.00779	0.273966	0.505005	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.32272	1.46;1.46	3.45	-6.91	0.01649	GPCR, rhodopsin-like superfamily (1);	1.171350	0.06439	N	0.725641	T	0.00012	0.0000	N	0.00000	-4.27	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.53034	-0.8495	9	0.02654	T	1	.	5.0066	0.14291	0.3246:0.0:0.2032:0.4721	rs10838719	133	Q96RD3	O52E6_HUMAN	R	133;137	ENSP00000328878:W133R;ENSP00000369279:W137R	ENSP00000328878:W133R	W	-	1	0	OR52E6	5819307	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-0.533000	0.06157	-1.517000	0.01780	-0.319000	0.08680	TGG	A|0.622;G|0.378	0.378	strong		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		G	5862731	A	G	5862731	3	3	23	1	0	0	0	0	1	0	0	0	11117	130	5	2	546	2	OR52E6	11	5862731	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	199	5862731	129143785	2683	19139										
OR52E6	390078	hgsc.bcm.edu	37	chr11	5863113	5863113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagtatggaactgggtgtcGttagctataggcattctttc	12	6	1	0	rs10742810	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5863113G>A	ENST00000329322.5	-	1	14	c.15C>T	c.(13-15)aaC>aaT	p.N5N	OR52E6_ENST00000379946.2_Silent_p.N9N|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	5						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGGTGTCGTTAGCTATAG	0.408													A|||	1924	0.384185	0.379	0.3184	5008	,	,		20800	0.4593		0.3728	False		,,,				2504	0.3722				p.N5N		Atlas-SNP	.											OR52E6,NS,carcinoma,0,1	OR52E6	70	1	0			c.C15T						PASS	.	A		1565,2771		287,991,890	66	63	64		15	-0.6	0	11	dbSNP_120	64	2999,5575		538,1923,1826	no	coding-synonymous	OR52E6	NM_001005167.1		825,2914,2716	AA,AG,GG		34.9778,36.0932,35.3524		5/314	5863113	4564,8346	2168	4287	6455	SO:0001819	synonymous_variant	390078	exon1			GGTGTCGTTAGCT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.15C>T	11.37:g.5863113G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	138	78	0.565217	NM_001005167	Q6IFF8	Silent	SNP	ENST00000329322.5	37	CCDS53597.1																																																																																			G|0.605;A|0.395	0.395	strong		0.408	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		A	5863113	G	A	5863113	2	1	23	1	0	0	0	0	0	0	0	1	11117	1136	40	1		1	OR52E6	11	5863113	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	382	5863113	129143403	2684	19140										
OR52E8	390079	hgsc.bcm.edu	37	chr11	5878458	5878458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtggaacaaccatgtacaGgctcctcaggacagcaatgc	10	12	1	0	rs549924845	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5878458G>A	ENST00000537935.1	-	1	506	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAGGCTCCTCAGG	0.507													G|||	10	0.00199681	0.0068	0.0	5008	,	,		18808	0.0		0.0	False		,,,				2504	0.001				p.L159L		Atlas-SNP	.											OR52E8,NS,carcinoma,0,1	OR52E8	54	1	0			c.C475T						scavenged	.						135	147	143					11																	5878458		2154	4296	6450	SO:0001819	synonymous_variant	390079	exon1			TGTACAGGCTCCT	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.475C>T	11.37:g.5878458G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	194	4	0.0206186	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.	.	none		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	23	1	0	0	0	0	0	0	0	1	11118	991	35	2		2	OR52E8	11	5878458	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15345	5878458	129128058	2685	19141										
OR56A5	0	hgsc.bcm.edu	37	chr11	5989415	5989415	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaactgttcatgatgaacaCctgaaggaagcaggcaggga	12	7	1	3	rs7114672	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:5989415C>T								OR56A3 (19824 upstream) : OR52L1 (17706 downstream)																							ATGATGAACACCTGAAGGAAG	0.517													.|||	2363	0.471845	0.733	0.3444	5008	,	,		22147	0.3194		0.3897	False		,,,				2504	0.4509				p.V104M		Atlas-SNP	.											.	.	.	.	0			c.G310A						PASS	.	T	MET/VAL	995,389		361,273,58	72	66	68		310	3.4	1	11	dbSNP_116	68	1476,1706		476,524,591	yes	missense	OR56A5	NM_001146033.1	21	837,797,649	TT,TC,CC		46.3859,28.1069,45.8826	benign	104/314	5989415	2471,2095	692	1591	2283	SO:0001628	intergenic_variant	390084	exon1			TGAACACCTGAAG																													11.37:g.5989415C>T		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	150	72	0.48	NM_001146033		Missense_Mutation	SNP		37																																																																																				A|0.039;C|0.419;T|0.541	0.541	strong	0	0.517									T	5989415	C	T	5989415	1	4	23	0	1	0	0	0	0	0	0	0	11136	507	18	2		2	OR56A5	11	5989415	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	110957	5989415	129017101	2686	19142										
OR56A4	120793	hgsc.bcm.edu	37	chr11	6023928	6023928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacatctggaggaagcaggCtgggaagctgatcgacctga	15	8	1	2	rs374569889		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6023928C>T	ENST00000330728.4	-	1	496	c.451G>A	c.(451-453)Gcc>Acc	p.A151T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGCAGGCTGGGAAGCTG	0.552																																					p.A151T		Atlas-SNP	.											OR56A4,NS,carcinoma,+2,1	OR56A4	66	1	0			c.G451A						scavenged	.						91	83	86					11																	6023928		2201	4296	6497	SO:0001583	missense	120793	exon1			AGCAGGCTGGGAA	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.451G>A	11.37:g.6023928C>T	ENSP00000328215:p.Ala151Thr	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_001005179	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	8.853	0.945178	0.18356	.	.	ENSG00000183389	ENST00000330728	T	0.03065	4.06	3.34	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.608817	0.12225	U	0.487973	T	0.05731	0.0150	M	0.72353	2.195	0.09310	N	0.999999	B	0.10296	0.003	B	0.17722	0.019	T	0.30621	-0.9972	10	0.56958	D	0.05	.	5.6081	0.17391	0.3381:0.559:0.0:0.1029	.	99	Q8NGH8	O56A4_HUMAN	T	151	ENSP00000328215:A151T	ENSP00000328215:A151T	A	-	1	0	OR56A4	5980504	0.006000	0.16342	0.415000	0.26534	0.462000	0.32619	1.350000	0.34010	0.214000	0.20742	0.555000	0.69702	GCC	.	.	alt		0.552	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		T	6023928	C	T	6023928	3	4	23	1	0	0	0	0	1	0	0	0	11135	797	28	2	648	2	OR56A4	11	6023928	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	34513	6023928	128982588	2687	19143										
FAM160A2	84067	hgsc.bcm.edu	37	chr11	6238960	6238960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcccctgcacccccagccCgccccctcctccccagctct	4	28	1	0	rs3750943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6238960C>A	ENST00000449352.2	-	9	2119	c.1856G>T	c.(1855-1857)cGg>cTg	p.R619L	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R619L|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R633L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	619			R -> L (in dbSNP:rs3750943).		early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						acccccagcccgccccctcct	0.652													A|||	654	0.130591	0.059	0.0778	5008	,	,		8807	0.2431		0.1461	False		,,,				2504	0.1329				p.R633L		Atlas-SNP	.											.	FAM160A2	100	.	0			c.G1898T						PASS	.	A	LEU/ARG,LEU/ARG	318,4002		17,284,1859	9	10	10		1856,1898	4	0.9	11	dbSNP_107	10	1364,7104		122,1120,2992	no	missense,missense	FAM160A2	NM_001098794.1,NM_032127.3	102,102	139,1404,4851	AA,AC,CC		16.1077,7.3611,13.153	benign,benign	619/973,633/987	6238960	1682,11106	2160	4234	6394	SO:0001583	missense	84067	exon9			CCAGCCCGCCCCC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1856G>T	11.37:g.6238960C>A	ENSP00000416918:p.Arg619Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	73	42	0.575342	NM_032127	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	320	0.14652014652014653	37	0.07520325203252033	36	0.09944751381215469	125	0.21853146853146854	122	0.16094986807387862	A	1.787	-0.480378	0.04383	0.073611	0.161077	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.46819	0.86;0.86;0.86	5.16	3.97	0.46021	.	0.645966	0.14866	N	0.293783	T	0.00012	0.0000	N	0.03608	-0.345	0.58432	P	1.999999999946489E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.24764	-1.0151	9	0.09084	T	0.74	-18.0925	5.0671	0.14587	0.6113:0.1554:0.0:0.2333	rs3750943	619;619;633	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	L	619;544;633;619	ENSP00000416918:R619L;ENSP00000265978:R633L;ENSP00000431773:R619L	ENSP00000265978:R633L	R	-	2	0	FAM160A2	6195536	0.534000	0.26362	0.881000	0.34555	0.135000	0.20990	1.447000	0.35101	0.994000	0.38892	-0.363000	0.07495	CGG	C|0.853;A|0.147	0.147	strong		0.652	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6238960	C	A	6238960	3	1	23	1	0	0	0	0	1	0	0	0	5469	652	23	4	1078	4	FAM160A2	11	6238960	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	215032	6238960	128767556	2688	19144										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6568213	6568213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagaatcggctggcagccaTggaggacacctcaacccaag	11	14	1	1	rs58186801	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6568213T>C	ENST00000527990.2	+	19	6044	c.6044T>C	c.(6043-6045)aTg>aCg	p.M2015T	DNHD1_ENST00000254579.6_Missense_Mutation_p.M2015T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2015					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGCAGCCATGGAGGACACC	0.617													T|||	698	0.139377	0.0129	0.2118	5008	,	,		14803	0.1597		0.2465	False		,,,				2504	0.1278				p.M2015T		Atlas-SNP	.											.	DNHD1	198	.	0			c.T6044C						PASS	.	T	THR/MET	56,1328		2,52,638	13	16	15		6044	-1	0.3	11	dbSNP_129	15	711,2469		89,533,968	yes	missense	DNHD1	NM_144666.2	81	91,585,1606	CC,CT,TT		22.3585,4.0462,16.8054	benign	2015/4754	6568213	767,3797	692	1590	2282	SO:0001583	missense	144132	exon21			CAGCCATGGAGGA	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6044T>C	11.37:g.6568213T>C	ENSP00000436180:p.Met2015Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	49	25	0.510204	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	368	0.1684981684981685	8	0.016260162601626018	85	0.23480662983425415	93	0.16258741258741258	182	0.24010554089709762	T	0.016	-1.519073	0.00967	0.040462	0.223585	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.26957	1.7;1.7	4.6	-1.05	0.10036	.	0.747484	0.12991	N	0.422447	T	0.00012	0.0000	N	0.25647	0.755	0.50313	P	1.36000000000025E-4	B	0.06786	0.001	B	0.08055	0.003	T	0.43180	-0.9407	9	0.15952	T	0.53	.	5.1027	0.14768	0.0:0.266:0.293:0.4409	rs58186801;rs61743369	2015	Q96M86	DNHD1_HUMAN	T	2015;2015;306	ENSP00000254579:M2015T;ENSP00000436180:M2015T	ENSP00000254579:M2015T	M	+	2	0	DNHD1	6524789	0.562000	0.26586	0.328000	0.25416	0.406000	0.30931	-0.235000	0.09016	-0.014000	0.14175	0.533000	0.62120	ATG	T|0.825;C|0.175	0.175	strong		0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6568213	T	C	6568213	3	2	23	1	0	0	0	0	1	0	0	0	4668	1464	51	2	6127	2	DNHD1	11	6568213	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	329253	6568213	128438303	2689	19145										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6580495	6580495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctttgacttggaacagcaGctgaaagactccggcaaggt	11	9	1	3	rs72901756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6580495G>A	ENST00000527990.2	+	26	9501	c.9501G>A	c.(9499-9501)caG>caA	p.Q3167Q	DNHD1_ENST00000254579.6_Silent_p.Q3167Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3167					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGAACAGCAGCTGAAAGACT	0.483													G|||	364	0.0726837	0.0204	0.1037	5008	,	,		21689	0.0159		0.0736	False		,,,				2504	0.1789				p.Q3167Q		Atlas-SNP	.											.	DNHD1	198	.	0			c.G9501A						PASS	.	G		45,1339		1,43,648	106	90	95		9501	2.5	0.9	11	dbSNP_130	95	339,2843		20,299,1272	no	coding-synonymous	DNHD1	NM_144666.2		21,342,1920	AA,AG,GG		10.6537,3.2514,8.41		3167/4754	6580495	384,4182	692	1591	2283	SO:0001819	synonymous_variant	144132	exon28			ACAGCAGCTGAAA	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.9501G>A	11.37:g.6580495G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	130	64	0.492308	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			G|0.957;A|0.043	0.043	strong		0.483	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6580495	G	A	6580495	2	1	23	1	0	0	0	0	0	0	0	1	4668	962	34	2		2	DNHD1	11	6580495	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12282	6580495	128426021	2690	19146										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6585670	6585670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcgccaagagctactggaCgagtggttagctctgtgtag	15	9	1	1	rs16915423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6585670C>T	ENST00000527990.2	+	30	10392	c.10392C>T	c.(10390-10392)gaC>gaT	p.D3464D	DNHD1_ENST00000254579.6_Silent_p.D3464D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3464					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTACTGGACGAGTGGTTAG	0.552													C|||	600	0.119808	0.295	0.0922	5008	,	,		21225	0.0149		0.0169	False		,,,				2504	0.1166				p.D3464D		Atlas-SNP	.											.	DNHD1	198	.	0			c.C10392T						PASS	.	C		356,1028		43,270,379	115	110	112		10392	-1.9	0.9	11	dbSNP_123	112	81,3101		0,81,1510	no	coding-synonymous	DNHD1	NM_144666.2		43,351,1889	TT,TC,CC		2.5456,25.7225,9.5707		3464/4754	6585670	437,4129	692	1591	2283	SO:0001819	synonymous_variant	144132	exon32			ACTGGACGAGTGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10392C>T	11.37:g.6585670C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	237	116	0.489451	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			C|0.905;T|0.095	0.095	strong		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6585670	C	T	6585670	2	4	23	1	0	0	0	0	0	0	0	1	4668	535	19	1		1	DNHD1	11	6585670	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5175	6585670	128420846	2691	19147										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6585838	6585838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgagctctgaatcggagcaGtaccagtgggatggaaacct	13	9	1	2	rs11825255	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6585838G>A	ENST00000527990.2	+	30	10560	c.10560G>A	c.(10558-10560)caG>caA	p.Q3520Q	DNHD1_ENST00000254579.6_Silent_p.Q3520Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3520					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATCGGAGCAGTACCAGTGGG	0.552													G|||	991	0.197883	0.5484	0.1254	5008	,	,		19760	0.0149		0.0417	False		,,,				2504	0.1247				p.Q3520Q		Atlas-SNP	.											.	DNHD1	198	.	0			c.G10560A						PASS	.	G		681,703		168,345,179	124	119	120		10560	4.7	0.9	11	dbSNP_120	120	153,3029		3,147,1441	no	coding-synonymous	DNHD1	NM_144666.2		171,492,1620	AA,AG,GG		4.8083,49.2052,18.2654		3520/4754	6585838	834,3732	692	1591	2283	SO:0001819	synonymous_variant	144132	exon32			GGAGCAGTACCAG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10560G>A	11.37:g.6585838G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	74	29	0.391892	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			G|0.816;A|0.184	0.184	strong		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6585838	G	A	6585838	2	1	23	1	0	0	0	0	0	0	0	1	4668	1020	36	2		2	DNHD1	11	6585838	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	168	6585838	128420678	2692	19148										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6588553	6588553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttggtgggtgcattgggCgctttggctctgctgcaagc	15	11	1	0	rs56313830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6588553C>T	ENST00000527990.2	+	34	11814	c.11814C>T	c.(11812-11814)ggC>ggT	p.G3938G	DNHD1_ENST00000254579.6_Silent_p.G3938G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3938					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCATTGGGCGCTTTGGCTC	0.597													C|||	967	0.193091	0.531	0.1239	5008	,	,		21235	0.0149		0.0417	False		,,,				2504	0.1247				p.G3938G		Atlas-SNP	.											.	DNHD1	198	.	0			c.C11814T						PASS	.	C		1869,2321		424,1021,650	54	62	59		11814	0.7	1	11	dbSNP_129	59	384,8054		6,372,3841	no	coding-synonymous	DNHD1	NM_144666.2		430,1393,4491	TT,TC,CC		4.5508,44.6062,17.8413		3938/4754	6588553	2253,10375	2095	4219	6314	SO:0001819	synonymous_variant	144132	exon36			ATTGGGCGCTTTG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11814C>T	11.37:g.6588553C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	85	34	0.4	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			C|0.870;T|0.130	0.130	strong		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6588553	C	T	6588553	2	4	23	1	0	0	0	0	0	0	0	1	4668	755	27	1		1	DNHD1	11	6588553	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2715	6588553	128417963	2693	19149										
TPP1	1200	hgsc.bcm.edu	37	chr11	6637577	6637577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagggtgagaccccgagcGgcagccttcatgagctcagt	14	12	2	2	rs35706972	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6637577G>A	ENST00000299427.6	-	8	1104	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TPP1_ENST00000533371.1_Silent_p.A105A|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GACCCCGAGCGGCAGCCTTCA	0.567													G|||	26	0.00519169	0.0	0.0058	5008	,	,		17941	0.0		0.0129	False		,,,				2504	0.0092				p.A348A		Atlas-SNP	.											.	TPP1	71	.	0			c.C1044T						PASS	.	G		11,4391	16.8+/-37.8	0,11,2190	106	107	107		1044	-6.7	0	11	dbSNP_126	107	114,8478	60.2+/-122.0	1,112,4183	no	coding-synonymous	TPP1	NM_000391.3		1,123,6373	AA,AG,GG		1.3268,0.2499,0.962		348/564	6637577	125,12869	2201	4296	6497	SO:0001819	synonymous_variant	1200	exon8			CCGAGCGGCAGCC	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1044C>T	11.37:g.6637577G>A		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	87	39	0.448276	NM_000391	Q71V64	Silent	SNP	ENST00000299427.6	37	CCDS7770.1																																																																																			G|0.992;A|0.008	0.008	strong		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			A	6637577	G	A	6637577	2	1	23	1	0	0	0	0	0	0	0	1	16408	1103	39	1		1	TPP1	11	6637577	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	49024	6637577	128368939	2694	19150										
ZNF215	7762	hgsc.bcm.edu	37	chr11	6962879	6962879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggctcacgaacaggcaaaCcacaggtgaattaggattct	10	10	2	1	rs141940336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:6962879C>T	ENST00000278319.5	+	4	1066	c.478C>T	c.(478-480)Cca>Tca	p.P160S	ZNF215_ENST00000414517.2_Missense_Mutation_p.P160S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P160S|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	160					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AACAGGCAAACCACAGGTGAA	0.413																																					p.P160S		Atlas-SNP	.											.	ZNF215	72	.	0			c.C478T						PASS	.	C	SER/PRO	0,4402		0,0,2201	90	86	87		478	1.1	0	11	dbSNP_134	87	2,8590	2.2+/-6.3	0,2,4294	yes	missense	ZNF215	NM_013250.2	74	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	160/518	6962879	2,12992	2201	4296	6497	SO:0001583	missense	7762	exon4			GGCAAACCACAGG	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.478C>T	11.37:g.6962879C>T	ENSP00000278319:p.Pro160Ser	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	87	40	0.45977	NM_013250	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	0.861	-0.735158	0.03111	0.0	2.33E-4	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.00768	5.72;5.72;5.72	4.32	1.07	0.20283	Krueppel-associated box (1);	0.585459	0.14355	N	0.324834	T	0.00328	0.0010	N	0.01705	-0.755	0.34821	D	0.738729	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.31998	-0.9923	10	0.02654	T	1	4.8197	5.2224	0.15375	0.0:0.4366:0.0:0.5634	.	160;160;160	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	S	160	ENSP00000278319:P160S;ENSP00000393202:P160S;ENSP00000432306:P160S	ENSP00000278319:P160S	P	+	1	0	ZNF215	6919455	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.273000	0.18662	0.419000	0.25927	0.591000	0.81541	CCA	C|1.000;T|0.000	0.000	strong		0.413	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			T	6962879	C	T	6962879	3	4	23	1	0	0	0	0	1	0	0	0	17768	507	18	2	484	2	ZNF215	11	6962879	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	325302	6962879	128043637	2695	19151										
ZNF214	7761	hgsc.bcm.edu	37	chr11	7022360	7022360	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatataagaatgctgaactAtgagcttctgttctttttcc	8	7	2	3	rs2239734	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7022360A>C	ENST00000278314.4	-	3	869	c.554T>G	c.(553-555)aTa>aGa	p.I185R	ZNF214_ENST00000536068.1_Missense_Mutation_p.I185R|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	185			I -> R (in dbSNP:rs2239734).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATGCTGAACTATGAGCTTCTG	0.433													A|||	522	0.104233	0.0378	0.1542	5008	,	,		18495	0.128		0.1083	False		,,,				2504	0.1299				p.I185R	Ovarian(22;251 657 736 21522 46864)	Atlas-SNP	.											.	ZNF214	65	.	0			c.T554G						PASS	.	A	ARG/ILE	262,4138	146.1+/-180.8	6,250,1944	105	105	105		554	3.1	0.9	11	dbSNP_98	105	843,7745	192.7+/-238.6	44,755,3495	yes	missense	ZNF214	NM_013249.2	97	50,1005,5439	CC,CA,AA		9.816,5.9545,8.5079	possibly-damaging	185/607	7022360	1105,11883	2200	4294	6494	SO:0001583	missense	7761	exon3			TGAACTATGAGCT	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.554T>G	11.37:g.7022360A>C	ENSP00000278314:p.Ile185Arg	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	173	89	0.514451	NM_013249	B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	CCDS31418.1	241	0.11034798534798534	13	0.026422764227642278	56	0.15469613259668508	89	0.1555944055944056	83	0.10949868073878628	A	6.532	0.466409	0.12402	0.059545	0.09816	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.08008	3.14;3.14	4.29	3.12	0.35913	.	0.444056	0.19246	N	0.119042	T	0.00012	0.0000	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.09022	0.002	B	0.04013	0.001	T	0.43556	-0.9384	9	0.25106	T	0.35	.	7.7734	0.29021	0.7869:0.2131:0.0:0.0	rs2239734;rs17278329;rs52798655;rs57682570;rs2239734	185	Q9UL59	ZN214_HUMAN	R	185	ENSP00000278314:I185R;ENSP00000445373:I185R	ENSP00000278314:I185R	I	-	2	0	ZNF214	6978936	0.000000	0.05858	0.916000	0.36221	0.940000	0.58332	0.082000	0.14847	0.759000	0.33084	0.533000	0.62120	ATA	A|0.909;C|0.091	0.091	strong		0.433	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			C	7022360	A	C	7022360	3	2	23	1	0	0	0	0	1	0	0	0	17767	449	16	5	1270	5	ZNF214	11	7022360	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	59481	7022360	127984156	2696	19152										
OLFML1	283298	hgsc.bcm.edu	37	chr11	7509566	7509566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaggctgacgagtgcatcgAatcagaggacaagacactgg	14	8	1	4	rs12805648	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7509566A>T	ENST00000329293.3	+	2	732	c.338A>T	c.(337-339)gAa>gTa	p.E113V	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.E113V|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	113			E -> V (in dbSNP:rs12805648). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16554811}.			extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGTGCATCGAATCAGAGGAC	0.463													A|||	833	0.166334	0.1271	0.2219	5008	,	,		18704	0.1558		0.1889	False		,,,				2504	0.1677				p.E113V		Atlas-SNP	.											OLFML1,NS,carcinoma,+1,3	OLFML1	54	3	0			c.A338T						PASS	.	A	VAL/GLU	579,3823	257.7+/-262.0	40,499,1662	98	86	90		338	5.7	0.3	11	dbSNP_121	90	1455,7137	279.3+/-293.9	127,1201,2968	yes	missense	OLFML1	NM_198474.3	121	167,1700,4630	TT,TA,AA		16.9344,13.1531,15.6534	possibly-damaging	113/403	7509566	2034,10960	2201	4296	6497	SO:0001583	missense	283298	exon2			GCATCGAATCAGA	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.338A>T	11.37:g.7509566A>T	ENSP00000332511:p.Glu113Val	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_198474	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	412	0.18864468864468864	91	0.18495934959349594	74	0.20441988950276244	95	0.1660839160839161	152	0.20052770448548812	A	14.68	2.606394	0.46527	0.131531	0.169344	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89552	-2.53;-2.53	5.68	5.68	0.88126	.	0.282271	0.38164	N	0.001796	T	0.00524	0.0017	M	0.66939	2.045	0.09310	P	0.9999999999982478	B	0.21753	0.06	B	0.20384	0.029	T	0.46582	-0.9181	9	0.66056	D	0.02	.	12.3098	0.54922	1.0:0.0:0.0:0.0	rs12805648;rs12805648	113	Q6UWY5	OLFL1_HUMAN	V	113	ENSP00000433455:E113V;ENSP00000332511:E113V	ENSP00000332511:E113V	E	+	2	0	OLFML1	7466142	1.000000	0.71417	0.281000	0.24762	0.705000	0.40729	5.476000	0.66793	2.167000	0.68274	0.482000	0.46254	GAA	A|0.833;T|0.167	0.167	strong		0.463	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		T	7509566	A	T	7509566	3	4	23	1	0	0	0	0	1	0	0	0	10856	246	9	5	344	5	OLFML1	11	7509566	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	487206	7509566	127496950	2697	19153										
OR5P3	120066	hgsc.bcm.edu	37	chr11	7847208	7847208	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggccgtaccaaacgtcacTacagaacagagctgggccac	10	14	1	2	rs1482791	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7847208T>C	ENST00000328375.1	-	1	311	c.312A>G	c.(310-312)gtA>gtG	p.V104V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAACGTCACTACAGAACAGA	0.547													T|||	2221	0.44349	0.0711	0.5937	5008	,	,		19791	0.4762		0.6292	False		,,,				2504	0.6155				p.V104V		Atlas-SNP	.											.	OR5P3	44	.	0			c.A312G						PASS	.	T		741,3631		119,503,1564	157	153	155		312	-10.6	0	11	dbSNP_88	155	5412,3180		1709,1994,593	no	coding-synonymous	OR5P3	NM_153445.1		1828,2497,2157	CC,CT,TT		37.0112,16.9488,47.4622		104/312	7847208	6153,6811	2186	4296	6482	SO:0001819	synonymous_variant	120066	exon1			CGTCACTACAGAA	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.312A>G	11.37:g.7847208T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	67	0.503759	NM_153445	Q6IFE1|Q8NGM2	Silent	SNP	ENST00000328375.1	37	CCDS7783.1																																																																																			T|0.476;C|0.524	0.524	strong		0.547	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		C	7847208	T	C	7847208	2	2	23	1	0	0	0	0	0	0	0	1	11179	1509	53	3		3	OR5P3	11	7847208	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	337642	7847208	127159308	2698	19154										
OR5P3	120066	hgsc.bcm.edu	37	chr11	7847472	7847472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgtagtatcctcagataaCcccaaaagagtaaactctac	5	11	2	2	rs1482793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7847472C>T	ENST00000328375.1	-	1	47	c.48G>A	c.(46-48)ggG>ggA	p.G16G	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCAGATAACCCCAAAAGAG	0.348													C|||	2223	0.44389	0.0726	0.5937	5008	,	,		19327	0.4762		0.6292	False		,,,				2504	0.6155				p.G16G		Atlas-SNP	.											.	OR5P3	44	.	0			c.G48A						PASS	.	C		723,3615		122,479,1568	44	45	45		48	-4.9	0	11	dbSNP_88	45	5273,3283		1672,1929,677	no	coding-synonymous	OR5P3	NM_153445.1		1794,2408,2245	TT,TC,CC		38.3707,16.6667,46.5022		16/312	7847472	5996,6898	2169	4278	6447	SO:0001819	synonymous_variant	120066	exon1			AGATAACCCCAAA	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.48G>A	11.37:g.7847472C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_153445	Q6IFE1|Q8NGM2	Silent	SNP	ENST00000328375.1	37	CCDS7783.1																																																																																			C|0.504;T|0.496	0.496	strong		0.348	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		T	7847472	C	T	7847472	2	4	23	1	0	0	0	0	0	0	0	1	11179	494	18	2		2	OR5P3	11	7847472	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	264	7847472	127159044	2699	19155										
NLRP10	338322	hgsc.bcm.edu	37	chr11	7981521	7981521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatctgttctttaaaatgCttcagatcctgcgctaaaca	5	11	3	1	rs11608118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7981521C>T	ENST00000328600.2	-	2	1799	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	546					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTAAAATGCTTCAGATCCT	0.398													C|||	320	0.0638978	0.0363	0.0432	5008	,	,		19762	0.0863		0.1024	False		,,,				2504	0.0532				p.K546K		Atlas-SNP	.											.	NLRP10	146	.	0			c.G1638A						PASS	.	C		181,4221	115.9+/-153.8	6,169,2026	61	62	62		1638	3.4	0.6	11	dbSNP_120	62	781,7811	184.3+/-232.3	38,705,3553	no	coding-synonymous	NLRP10	NM_176821.3		44,874,5579	TT,TC,CC		9.0899,4.1118,7.4034		546/656	7981521	962,12032	2201	4296	6497	SO:0001819	synonymous_variant	338322	exon2			AAAATGCTTCAGA	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1638G>A	11.37:g.7981521C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	112	47	0.419643	NM_176821	Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	CCDS7784.1																																																																																			C|0.930;T|0.070	0.070	strong		0.398	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7981521	C	T	7981521	2	4	23	1	0	0	0	0	0	0	0	1	10472	796	28	2		2	NLRP10	11	7981521	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	134049	7981521	127024995	2700	19156										
NLRP10	338322	hgsc.bcm.edu	37	chr11	7981822	7981822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtagtcgttactactcaggAaagcggcaagcctggggcca	14	10	1	0	rs143403695	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:7981822A>G	ENST00000328600.2	-	2	1498	c.1337T>C	c.(1336-1338)tTc>tCc	p.F446S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	446	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTACTCAGGAAAGCGGCAAG	0.488																																					p.F446S		Atlas-SNP	.											.	NLRP10	146	.	0			c.T1337C						PASS	.	A	SER/PHE	1,4401		0,1,2200	99	109	106		1337	3.7	0.2	11	dbSNP_134	106	1,8591		0,1,4295	yes	missense	NLRP10	NM_176821.3	155	0,2,6495	GG,GA,AA		0.0116,0.0227,0.0154	possibly-damaging	446/656	7981822	2,12992	2201	4296	6497	SO:0001583	missense	338322	exon2			CTCAGGAAAGCGG	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1337T>C	11.37:g.7981822A>G	ENSP00000327763:p.Phe446Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	53	34	0.641509	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446070	0.25987	2.27E-4	1.16E-4	ENSG00000182261	ENST00000328600	D	0.87103	-2.21	4.86	3.73	0.42828	.	0.000000	0.42548	D	0.000691	D	0.92205	0.7528	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	D	0.84554	0.0646	10	0.87932	D	0	.	7.3185	0.26513	0.8987:0.0:0.1013:0.0	.	446	Q86W26	NAL10_HUMAN	S	446	ENSP00000327763:F446S	ENSP00000327763:F446S	F	-	2	0	NLRP10	7938398	0.997000	0.39634	0.178000	0.23040	0.011000	0.07611	6.425000	0.73370	0.828000	0.34709	0.533000	0.62120	TTC	A|0.999;G|0.001	0.001	strong		0.488	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		G	7981822	A	G	7981822	3	3	23	1	0	0	0	0	1	0	0	0	10472	246	9	2	634	2	NLRP10	11	7981822	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	301	7981822	127024694	2701	19157										
EIF4G2	1982	hgsc.bcm.edu	37	chr11	10825093	10825093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacagaggcactccaaatcCtctcccatatctttgagttg	7	12	2	3	rs35388213	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:10825093C>T	ENST00000526148.1	-	9	1257	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.E249E|EIF4G2_ENST00000396525.2_Silent_p.E249E|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Silent_p.E249E	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACTCCAAATCCTCTCCCATAT	0.428													C|||	34	0.00678914	0.0	0.0231	5008	,	,		20421	0.0		0.0159	False		,,,				2504	0.002				p.E249E		Atlas-SNP	.											.	EIF4G2	89	.	0			c.G747A						PASS	.	C	,,	17,4385	24.3+/-50.5	0,17,2184	161	147	152		747,747,747	6.1	1	11	dbSNP_126	152	204,8384	88.4+/-150.7	2,200,4092	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4G2	NM_001042559.2,NM_001172705.1,NM_001418.3	,,	2,217,6276	TT,TC,CC		2.3754,0.3862,1.7013	,,	249/870,249/908,249/908	10825093	221,12769	2201	4294	6495	SO:0001819	synonymous_variant	1982	exon9			CAAATCCTCTCCC	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.747G>A	11.37:g.10825093C>T		Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	199	92	0.462312	NM_001172705		Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																			C|0.984;T|0.016	0.016	strong		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10825093	C	T	10825093	2	4	23	1	0	0	0	0	0	0	0	1	5037	680	24	2		2	EIF4G2	11	10825093	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2843271	10825093	124181423	2702	19158										
MICAL2	9645	hgsc.bcm.edu	37	chr11	12229655	12229655	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtggagttcgtgaaggtTctagagcctcctgaagatca	12	7	2	4	rs2279390	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:12229655T>G	ENST00000256194.4	+	5	846	c.558T>G	c.(556-558)gtT>gtG	p.V186V	MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Silent_p.V186V|MICAL2_ENST00000527546.1_Silent_p.V186V|MICAL2_ENST00000342902.5_Silent_p.V186V|MICAL2_ENST00000537344.1_Silent_p.V186V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	186	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCGTGAAGGTTCTAGAGCCTC	0.423													T|||	2012	0.401757	0.4856	0.245	5008	,	,		20845	0.501		0.2584	False		,,,				2504	0.4448				p.V186V		Atlas-SNP	.											.	MICAL2	114	.	0			c.T558G						PASS	.	T		2029,2373	564.5+/-381.5	461,1107,633	185	169	174		558	-0.9	0.7	11	dbSNP_100	174	2028,6560	354.2+/-329.4	230,1568,2496	no	coding-synonymous	MICAL2	NM_014632.2		691,2675,3129	GG,GT,TT		23.6143,46.0927,31.2317		186/1125	12229655	4057,8933	2201	4294	6495	SO:0001819	synonymous_variant	9645	exon5			GAAGGTTCTAGAG	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.558T>G	11.37:g.12229655T>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	211	113	0.535545	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																			G|0.341;N|0.000	0.341	strong		0.423	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		G	12229655	T	G	12229655	2	3	23	1	0	0	0	0	0	0	0	1	9570	1770	62	5		5	MICAL2	11	12229655	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1404562	12229655	122776861	2703	19159										
MICALCL	84953	hgsc.bcm.edu	37	chr11	12315848	12315848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctttccaactctgaaggCgggaagaaggcctgggccaa	12	12	1	2	rs1493952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:12315848C>T	ENST00000256186.2	+	3	1161	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	290					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACTCTGAAGGCGGGAAGAAGG	0.567																																					p.G290G		Atlas-SNP	.											.	MICALCL	59	.	0			c.C870T						PASS	.	T		2016,1876		518,980,448	52	58	56		870	-1.6	0	11	dbSNP_88	56	2614,5620		424,1766,1927	no	coding-synonymous	MICALCL	NM_032867.2		942,2746,2375	TT,TC,CC		31.7464,48.2014,38.1824		290/696	12315848	4630,7496	1946	4117	6063	SO:0001819	synonymous_variant	84953	exon3			TGAAGGCGGGAAG	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.870C>T	11.37:g.12315848C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	35	16	0.457143	NM_032867	Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	CCDS41620.1																																																																																			C|0.576;T|0.424	0.424	strong		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		T	12315848	C	T	12315848	2	4	23	1	0	0	0	0	0	0	0	1	9572	755	27	1		1	MICALCL	11	12315848	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	86193	12315848	122690668	2704	19160										
MICALCL	84953	hgsc.bcm.edu	37	chr11	12315915	12315915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcctgcactcgctcattcAgccttcggaaaaccaattcc	7	15	2	0	rs1493954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:12315915A>G	ENST00000256186.2	+	3	1228	c.937A>G	c.(937-939)Agc>Ggc	p.S313G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	313			S -> G (in dbSNP:rs1493954). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCGCTCATTCAGCCTTCGGAA	0.572													A|||	2659	0.53095	0.618	0.4755	5008	,	,		17570	0.6786		0.3429	False		,,,				2504	0.4939				p.S313G		Atlas-SNP	.											.	MICALCL	59	.	0			c.A937G						PASS	.	A	GLY/SER	2129,1777		601,927,425	87	97	94		937	5.4	0.1	11	dbSNP_88	94	2779,5495		490,1799,1848	yes	missense	MICALCL	NM_032867.2	56	1091,2726,2273	GG,GA,AA		33.5871,45.4941,40.2956	benign	313/696	12315915	4908,7272	1953	4137	6090	SO:0001583	missense	84953	exon3			TCATTCAGCCTTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.937A>G	11.37:g.12315915A>G	ENSP00000256186:p.Ser313Gly	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	38	20	0.526316	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	1080	0.4945054945054945	284	0.5772357723577236	154	0.425414364640884	381	0.666083916083916	261	0.34432717678100266	A	9.494	1.101419	0.20632	0.545059	0.335871	ENSG00000133808	ENST00000256186	T	0.37915	1.17	5.41	5.41	0.78517	.	0.217809	0.32640	N	0.005834	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	B	0.22851	0.076	B	0.20384	0.029	T	0.35500	-0.9786	9	0.22109	T	0.4	.	11.8195	0.52230	1.0:0.0:0.0:0.0	rs1493954;rs56583837;rs57257051;rs1493954	313	Q6ZW33	MICLK_HUMAN	G	313	ENSP00000256186:S313G	ENSP00000256186:S313G	S	+	1	0	MICALCL	12272491	0.750000	0.28316	0.132000	0.22025	0.076000	0.17211	3.504000	0.53347	2.049000	0.60858	0.455000	0.32223	AGC	A|0.511;C|0.004	.	strong		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		G	12315915	A	G	12315915	3	3	23	1	0	0	0	0	1	0	0	0	9572	188	7	3	943	3	MICALCL	11	12315915	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	67	12315915	122690601	2705	19161										
COPB1	1315	hgsc.bcm.edu	37	chr11	14515829	14515829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagttgttttaggaacaattTcccaaaataccagaagtaat	7	6	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:14515829T>C	ENST00000249923.3	-	3	548	c.248A>G	c.(247-249)gAa>gGa	p.E83G	PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E83G|PSMA1_ENST00000419365.2_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	83					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGGAACAATTTCCCAAAATAC	0.363																																					p.E83G		Atlas-SNP	.											.	COPB1	81	.	0			c.A248G						PASS	.						84	88	87					11																	14515829		2200	4294	6494	SO:0001583	missense	1315	exon3			ACAATTTCCCAAA	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.248A>G	11.37:g.14515829T>C	ENSP00000249923:p.Glu83Gly	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	55	0.443548	NM_001144062	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997254	0.93167	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.31	5.31	0.75309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80137	-0.1508	10	0.87932	D	0	-14.0469	15.2851	0.73822	0.0:0.0:0.0:1.0	.	83	P53618	COPB_HUMAN	G	83	ENSP00000249923:E83G;ENSP00000397873:E83G;ENSP00000436383:E83G;ENSP00000431530:E83G;ENSP00000436401:E83G	ENSP00000249923:E83G	E	-	2	0	COPB1	14472405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.004000	0.58718	0.533000	0.62120	GAA	.	.	none		0.363	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14515829	T	C	14515829	3	2	23	1	0	0	0	0	1	0	0	0	3728	1783	62	2	2693	2	COPB1	11	14515829	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2199914	14515829	120490687	2706	19162										
PIK3C2A	5286	hgsc.bcm.edu	37	chr11	17158120	17158120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcgacaccatctaaagcaCtacagatttttcttacagct	4	12	3	1	rs61733866	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:17158120C>T	ENST00000265970.7	-	8	1756	c.1757G>A	c.(1756-1758)aGt>aAt	p.S586N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.S206N	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	586					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATCTAAAGCACTACAGATTTT	0.328													C|||	32	0.00638978	0.0	0.0043	5008	,	,		16548	0.0		0.005	False		,,,				2504	0.0245				p.S586N		Atlas-SNP	.											.	PIK3C2A	148	.	0			c.G1757A						PASS	.	C	ASN/SER	8,4390	15.5+/-35.6	0,8,2191	114	109	111		1757	4.6	1	11	dbSNP_129	111	97,8489	53.1+/-113.8	0,97,4196	yes	missense	PIK3C2A	NM_002645.2	46	0,105,6387	TT,TC,CC		1.1297,0.1819,0.8087	benign	586/1687	17158120	105,12879	2199	4293	6492	SO:0001583	missense	5286	exon8			AAAGCACTACAGA	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1757G>A	11.37:g.17158120C>T	ENSP00000265970:p.Ser586Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	9	0.004120879120879121	0	0.0	4	0.011049723756906077	0	0.0	5	0.006596306068601583	C	11.39	1.626054	0.28978	0.001819	0.011297	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.62788	0.0;0.38	5.5	4.58	0.56647	.	0.440892	0.29995	N	0.010680	T	0.36908	0.0984	L	0.35723	1.085	0.32142	N	0.585417	B	0.23735	0.09	B	0.21360	0.034	T	0.43393	-0.9394	10	0.10377	T	0.69	-8.3308	7.5542	0.27814	0.0:0.7019:0.1477:0.1504	.	586	O00443	P3C2A_HUMAN	N	586;206;586	ENSP00000265970:S586N;ENSP00000438687:S206N	ENSP00000265970:S586N	S	-	2	0	PIK3C2A	17114696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.729000	0.47327	1.459000	0.47892	0.561000	0.74099	AGT	C|0.992;T|0.008	0.008	strong		0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		T	17158120	C	T	17158120	3	4	23	1	0	0	0	0	1	0	0	0	11909	565	20	2	3403	2	PIK3C2A	11	17158120	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2642291	17158120	117848396	2707	19163										
NUCB2	4925	hgsc.bcm.edu	37	chr11	17352478	17352480	+	In_Frame_Del	DEL	ACA	ACA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatggaacaaaaaaaattAcaacaaggaattcctccatc					rs189362726|rs535406012|rs3842269	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:17352478_17352480delACA	ENST00000529010.1	+	13	1422_1424	c.1203_1205delACA	c.(1201-1206)ttacaa>tta	p.Q403del	NUCB2_ENST00000458064.2_In_Frame_Del_p.Q373del|NUCB2_ENST00000323688.6_In_Frame_Del_p.Q403del	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	403	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAAAAAATTACAACAAGGAATT	0.32														1270	0.253594	0.1127	0.1484	5008	,	,		15929	0.5139		0.2992	False		,,,				2504	0.2035				p.401_402del		Pindel,Atlas-Indel	.											.	NUCB2	31	.	0			c.1202_1204del						PASS	.			466,3024		27,412,1306						5.5	1		dbSNP_107	44	2131,5673		291,1549,2062	no	coding	NUCB2	NM_005013.2		318,1961,3368	A1A1,A1R,RR		27.3065,13.3524,22.9945				2597,8697				SO:0001651	inframe_deletion	4925	exon13			.	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1203_1205delACA	11.37:g.17352481_17352483delACA	ENSP00000436455:p.Gln403del	Somatic	177	.	.		WXS	Illumina HiSeq	Phase_I	136	45	0.331	NM_005013	A8K642|D3DQX5|Q8NFT5	In_Frame_Del	DEL	ENST00000529010.1	37	CCDS41623.1																																																																																			ACA|0.718;-|0.282	0.282	strong		0.32	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		-	17352480	ACA	-	17352478	7	5	23	1	0	1	0	1	0	0	0	0	10719	388	14	0	1245	0	NUCB2	11	17352478	In_Frame_Del	DEL	ACA	TCGA-GR-7353-01A-11D-2210-10	194358	17352478	117654038	2708	19164										
USH1C	10083	hgsc.bcm.edu	37	chr11	17531146	17531146	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacccatggagaggatgaGgcgctcacatggccagataa	13	10	1	3	rs17776775	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:17531146G>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Silent_p.A590A	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGAGGATGAGGCGCTCACAT	0.672													G|||	345	0.0688898	0.0076	0.0389	5008	,	,		7889	0.0397		0.0527	False		,,,				2504	0.2198				p.A590A		Atlas-SNP	.											.	USH1C	157	.	0			c.C1770T						PASS	.	G	,	77,4311		2,73,2119	11	14	13	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,1770	4.6	0.6	11	dbSNP_123	13	396,8166		10,376,3895	no	intron,coding-synonymous	USH1C	NM_005709.3,NM_153676.3	,	12,449,6014	AA,AG,GG		4.6251,1.7548,3.6525	,	,590/900	17531146	473,12477	2194	4281	6475	SO:0001627	intron_variant	10083	exon18			GGATGAGGCGCTC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7619C>T	11.37:g.17531146G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	43	27	0.627907	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																			A|0.048;G|0.952	0.048	strong		0.672	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		A	17531146	G	A	17531146	1	1	23	0	1	0	0	0	0	0	0	0	17031	987	35	2		2	USH1C	11	17531146	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	178668	17531146	117475370	2709	19165										
SAAL1	113174	hgsc.bcm.edu	37	chr11	18127464	18127464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttccacacctggatgagtCcgctgaggacgccgaagagc	13	12	0	3	rs77233279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18127464C>T	ENST00000524803.1	-	1	174	c.125G>A	c.(124-126)gGa>gAa	p.G42E	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.G42E|SAAL1_ENST00000300013.4_Missense_Mutation_p.G42E			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	42										breast(2)|large_intestine(5)|lung(8)	15						CTGGATGAGTCCGCTGAGGAC	0.682											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	50	0.00998403	0.0015	0.0086	5008	,	,		14972	0.001		0.0408	False		,,,				2504	0.0				p.G42E		Atlas-SNP	.											SAAL1,NS,carcinoma,0,1	SAAL1	34	1	0			c.G125A						PASS	.	C	GLU/GLY	27,4371		0,27,2172	61	43	49		125	4.5	1	11	dbSNP_131	49	248,8334		3,242,4046	yes	missense	SAAL1	NM_138421.2	98	3,269,6218	TT,TC,CC		2.8898,0.6139,2.1186	benign	42/475	18127464	275,12705	2199	4291	6490	SO:0001583	missense	113174	exon1			ATGAGTCCGCTGA	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.125G>A	11.37:g.18127464C>T	ENSP00000432487:p.Gly42Glu	Somatic	42	0	0	723	WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_138421	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	33|33	0.01510989010989011|0.01510989010989011	0|0	0.0|0.0	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	30|30	0.0395778364116095|0.0395778364116095	C|C	9.842|9.842	1.191290|1.191290	0.21954|0.21954	0.006139|0.006139	0.028898|0.028898	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318;ENST00000530180	.|T;T;T;T	.|0.33865	.|1.39;1.39;1.39;1.39	5.46|5.46	4.48|4.48	0.54585|0.54585	.|.	.|0.168649	.|0.52532	.|D	.|0.000068	T|T	0.04048|0.04048	0.0113|0.0113	N|N	0.14661|0.14661	0.345|0.345	0.30455|0.30455	N|N	0.774862|0.774862	.|B;B;B	.|0.26845	.|0.161;0.161;0.161	.|B;B;B	.|0.24394	.|0.053;0.033;0.033	T|T	0.06881|0.06881	-1.0802|-1.0802	5|10	.|0.14656	.|T	.|0.56	-5.7028|-5.7028	7.9343|7.9343	0.29920|0.29920	0.1614:0.7563:0.0:0.0823|0.1614:0.7563:0.0:0.0823	.|.	.|42;42;42	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	N|E	35|42	.|ENSP00000432487:G42E;ENSP00000300013:G42E;ENSP00000432216:G42E;ENSP00000431489:G42E	.|ENSP00000300013:G42E	D|G	-|-	1|2	0|0	SAAL1|SAAL1	18084040|18084040	0.556000|0.556000	0.26538|0.26538	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	0.892000|0.892000	0.28322|0.28322	2.720000|2.720000	0.93068|0.93068	0.655000|0.655000	0.94253|0.94253	GAC|GGA	C|0.981;T|0.019	0.019	strong		0.682	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		T	18127464	C	T	18127464	3	4	23	1	0	0	0	0	1	0	0	0	13801	855	30	2	1347	2	SAAL1	11	18127464	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	596318	18127464	116879052	2710	19166										
MRGPRX4	117196	hgsc.bcm.edu	37	chr11	18194827	18194827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatccaaccgtcccagtcttCggtacaaaactgacaccaat	6	14	1	1	rs2468774	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18194827C>G	ENST00000314254.3	+	1	444	c.24C>G	c.(22-24)ttC>ttG	p.F8L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	8			F -> L (in dbSNP:rs2468774). {ECO:0000269|PubMed:11850634}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCCAGTCTTCGGTACAAAAC	0.522													G|||	1654	0.330272	0.2549	0.3415	5008	,	,		19349	0.4395		0.3062	False		,,,				2504	0.3364				p.F8L		Atlas-SNP	.											.	MRGPRX4	68	.	0			c.C24G						PASS	.	G	LEU/PHE	1080,3318	721.3+/-409.2	130,820,1249	164	155	158		24	1.5	0	11	dbSNP_100	158	2449,6137	695.9+/-404.8	338,1773,2182	no	missense	MRGPRX4	NM_054032.3	22	468,2593,3431	GG,GC,CC		28.5232,24.5566,27.1796	benign	8/323	18194827	3529,9455	2199	4293	6492	SO:0001583	missense	117196	exon1			AGTCTTCGGTACA	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.24C>G	11.37:g.18194827C>G	ENSP00000314042:p.Phe8Leu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	172	85	0.494186	NM_054032	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	750	0.3434065934065934	114	0.23170731707317074	120	0.3314917127071823	275	0.4807692307692308	241	0.3179419525065963	G	1.256	-0.617153	0.03663	0.245566	0.285232	ENSG00000179817	ENST00000314254	T	0.16324	2.35	2.42	1.49	0.22878	.	1.996180	0.02024	N	0.048015	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45190	-0.9278	9	0.09590	T	0.72	.	3.8504	0.08953	0.152:0.2516:0.5964:0.0	rs2468774;rs16934999;rs52794849;rs2468774	8	Q96LA9	MRGX4_HUMAN	L	8	ENSP00000314042:F8L	ENSP00000314042:F8L	F	+	3	2	MRGPRX4	18151403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.053000	0.14184	0.135000	0.18707	-1.305000	0.01319	TTC	C|0.699;G|0.301	0.301	strong		0.522	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		G	18194827	C	G	18194827	3	3	23	1	0	0	0	0	1	0	0	0	9769	883	31	4	26	4	MRGPRX4	11	18194827	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	67363	18194827	116811689	2711	19167										
MRGPRX4	117196	hgsc.bcm.edu	37	chr11	18195448	18195448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccgctgaccaggctgtaCgtgaccatcctgctcacagt	10	14	1	2	rs4630269	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18195448C>T	ENST00000314254.3	+	1	1065	c.645C>T	c.(643-645)taC>taT	p.Y215Y	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGGCTGTACGTGACCATCC	0.552													C|||	1653	0.330072	0.2542	0.3415	5008	,	,		20894	0.4415		0.3032	False		,,,				2504	0.3374				p.Y215Y		Atlas-SNP	.											MRGPRX4,NS,adenoma,0,1	MRGPRX4	68	1	0			c.C645T						scavenged	.	C		1077,3321	389.8+/-327.4	131,815,1253	112	102	105		645	-4.1	0	11	dbSNP_111	105	2447,6139	404.8+/-348.3	336,1775,2182	no	coding-synonymous	MRGPRX4	NM_054032.3		467,2590,3435	TT,TC,CC		28.4999,24.4884,27.1411		215/323	18195448	3524,9460	2199	4293	6492	SO:0001819	synonymous_variant	117196	exon1			GCTGTACGTGACC	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.645C>T	11.37:g.18195448C>T		Somatic	97	1	0.0103093		WXS	Illumina HiSeq	Phase_I	122	65	0.532787	NM_054032	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	37	CCDS7831.1																																																																																			C|0.710;T|0.290	0.290	strong		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		T	18195448	C	T	18195448	2	4	23	1	0	0	0	0	0	0	0	1	9769	547	19	1		1	MRGPRX4	11	18195448	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	621	18195448	116811068	2712	19168										
SAA1	6288	hgsc.bcm.edu	37	chr11	18290866	18290866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacctgggggtgcctgggcTgcagaagtgatcacgtaact	16	9	1	2	rs1136745	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18290866T>C	ENST00000405158.2	+	3	400	c.216T>C	c.(214-216)gcT>gcC	p.A72A	SAA1_ENST00000356524.4_Silent_p.A72A|SAA1_ENST00000532858.1_Silent_p.A72A|RNA5SP334_ENST00000364825.1_RNA	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	72					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.A72A(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GTGCCTGGGCTGCAGAAGTGA	0.562																																					p.A72A		Atlas-SNP	.											SAA1,NS,carcinoma,0,1	SAA1	14	1	1	Substitution - coding silent(1)	stomach(1)	c.T216C						scavenged	.						20	21	20					11																	18290866		2190	4260	6450	SO:0001819	synonymous_variant	6288	exon3			CTGGGCTGCAGAA	M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.216T>C	11.37:g.18290866T>C		Somatic	100	18	0.18		WXS	Illumina HiSeq	Phase_I	136	57	0.419118	NM_199161	P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	ENST00000405158.2	37	CCDS7835.1																																																																																			C|1.000;|0.000	1.000	weak		0.562	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		C	18290866	T	C	18290866	2	2	23	1	0	0	0	0	0	0	0	1	13798	1567	55	3		3	SAA1	11	18290866	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	95418	18290866	116715650	2713	19169										
HPS5	11234	hgsc.bcm.edu	37	chr11	18303533	18303533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatcctcaggatatcgcagGttctggtaaacttctctgac	8	11	3	1	rs61884288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18303533G>A	ENST00000349215.3	-	22	3570	c.3293C>T	c.(3292-3294)aCc>aTc	p.T1098I	HPS5_ENST00000396253.3_Missense_Mutation_p.T984I|HPS5_ENST00000537258.1_Missense_Mutation_p.T205I|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.T984I	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1098			T -> I (in HPS5; dbSNP:rs61884288). {ECO:0000269|PubMed:15296495}.		blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GATATCGCAGGTTCTGGTAAA	0.502									Hermansky-Pudlak syndrome				G|||	52	0.0103834	0.0015	0.0086	5008	,	,		23133	0.0		0.0408	False		,,,				2504	0.0031				p.T1098I		Atlas-SNP	.											HPS5,NS,meningioma,0,1	HPS5	70	1	0			c.C3293T	GRCh37	CM045580	HPS5	M	rs61884288	PASS	.	G	ILE/THR,ILE/THR,ILE/THR	34,4364	36.8+/-68.6	0,34,2165	131	126	128		2951,3293,2951	3.9	1	11	dbSNP_129	128	320,8266	113.5+/-173.5	3,314,3976	yes	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	89,89,89	3,348,6141	AA,AG,GG		3.727,0.7731,2.7264	benign,benign,benign	984/1016,1098/1130,984/1016	18303533	354,12630	2199	4293	6492	SO:0001583	missense	11234	exon22	Familial Cancer Database	HPS, HPS1-8	TCGCAGGTTCTGG	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3293C>T	11.37:g.18303533G>A	ENSP00000265967:p.Thr1098Ile	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	185	73	0.394595	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	34	0.015567765567765568	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	29	0.03825857519788918	G	11.52	1.662197	0.29515	0.007731	0.03727	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.55930	0.49;0.49;0.53	4.82	3.91	0.45181	.	0.188252	0.45361	N	0.000363	T	0.08714	0.0216	N	0.22421	0.69	0.80722	D	1	P	0.34615	0.459	B	0.30029	0.11	T	0.03103	-1.1072	10	0.36615	T	0.2	.	5.5833	0.17262	0.3361:0.0:0.6639:0.0	rs61884288	1098	Q9UPZ3	HPS5_HUMAN	I	984;984;1098;205	ENSP00000379552:T984I;ENSP00000399590:T984I;ENSP00000265967:T1098I	ENSP00000265967:T1098I	T	-	2	0	HPS5	18260109	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.115000	0.57865	1.245000	0.43885	0.650000	0.86243	ACC	G|0.975;A|0.025	0.025	strong		0.502	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		A	18303533	G	A	18303533	3	1	23	1	0	0	0	0	1	0	0	0	7342	1261	44	2	104	2	HPS5	11	18303533	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12667	18303533	116702983	2714	19170										
LDHA	3939	hgsc.bcm.edu	37	chr11	18422487	18422487	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccagcgtaacgtgaacatCtttaaattcatcattcctaa	5	10	3	1	rs61736803	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18422487C>A	ENST00000422447.3	+	4	621	c.348C>A	c.(346-348)atC>atA	p.I116I	LDHA_ENST00000227157.4_Silent_p.I116I|LDHA_ENST00000396222.2_Silent_p.I116I|LDHA_ENST00000379412.5_Silent_p.I116I|LDHA_ENST00000540430.1_Silent_p.I145I|LDHA_ENST00000542179.1_Silent_p.I116I|LDHA_ENST00000430553.2_Intron	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	116					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						ACGTGAACATCTTTAAATTCA	0.413													C|||	488	0.0974441	0.0469	0.1527	5008	,	,		11417	0.0645		0.1521	False		,,,				2504	0.1043				p.I145I		Atlas-SNP	.											.	LDHA	118	.	0			c.C435A						PASS	.	C	,,,,	333,4065	174.8+/-204.3	17,299,1883	94	78	84		,435,348,348,348	5	1	11	dbSNP_129	84	1464,7122	279.1+/-293.8	109,1246,2938	no	intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDHA	NM_001135239.1,NM_001165414.1,NM_001165415.1,NM_001165416.1,NM_005566.3	,,,,	126,1545,4821	AA,AC,CC		17.051,7.5716,13.8401	,,,,	,145/362,116/275,116/242,116/333	18422487	1797,11187	2199	4293	6492	SO:0001819	synonymous_variant	3939	exon4			GAACATCTTTAAA	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.348C>A	11.37:g.18422487C>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_001165414	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Silent	SNP	ENST00000422447.3	37	CCDS7839.1																																																																																			C|0.911;A|0.089	0.089	strong		0.413	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		A	18422487	C	A	18422487	2	1	23	1	0	0	0	0	0	0	0	1	8698	903	32	4		4	LDHA	11	18422487	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	118954	18422487	116584029	2715	19171										
LDHAL6A	160287	hgsc.bcm.edu	37	chr11	18487305	18487305	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctttaaattaatgattccCaatattacccagtacagtcc	3	10	1	1	rs17851143	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18487305C>G	ENST00000280706.2	+	3	1163	c.366C>G	c.(364-366)ccC>ccG	p.P122P	LDHAL6A_ENST00000396213.3_Silent_p.P122P	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	122					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						TAATGATTCCCAATATTACCC	0.388													C|||	438	0.0874601	0.0545	0.1268	5008	,	,		20083	0.0615		0.1233	False		,,,				2504	0.0941				p.P122P		Atlas-SNP	.											LDHAL6A,NS,adenoma,0,1	LDHAL6A	35	1	0			c.C366G						PASS	.	C	,	317,4081	169.8+/-200.3	16,285,1898	131	133	133		366,366	-0.8	0	11	dbSNP_123	133	1153,7433	236.8+/-268.9	74,1005,3214	no	coding-synonymous,coding-synonymous	LDHAL6A	NM_001144071.1,NM_144972.4	,	90,1290,5112	GG,GC,CC		13.4288,7.2078,11.3216	,	122/333,122/333	18487305	1470,11514	2199	4293	6492	SO:0001819	synonymous_variant	160287	exon3			GATTCCCAATATT	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.366C>G	11.37:g.18487305C>G		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	241	114	0.473029	NM_144972	D3DQY5	Silent	SNP	ENST00000280706.2	37	CCDS7841.1																																																																																			C|0.890;G|0.110	0.110	strong		0.388	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		G	18487305	C	G	18487305	2	3	23	1	0	0	0	0	0	0	0	1	8699	581	21	4		4	LDHAL6A	11	18487305	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	64818	18487305	116519211	2716	19172										
IGSF22	283284	hgsc.bcm.edu	37	chr11	18735465	18735465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgagcttgagcaggatgaGgccgctgtcttcacgcacac	12	12	2	3	rs11024769	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:18735465G>A	ENST00000513874.1	-	14	2168	c.2029C>T	c.(2029-2031)Ctc>Ttc	p.L677F	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	677	Ig-like 4.		L -> F (in dbSNP:rs11024769).							NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGCAGGATGAGGCCGCTGTCT	0.627													g|||	193	0.0385383	0.0855	0.0159	5008	,	,		22779	0.0496		0.0159	False		,,,				2504	0.0031				p.L677F		Atlas-SNP	.											.	IGSF22	211	.	0			c.C2029T						PASS	.		PHE/LEU	304,4076	148.0+/-182.4	10,284,1896	74	80	78		2029	-0.9	0	11	dbSNP_120	78	89,8477	49.4+/-109.1	1,87,4195	yes	missense	IGSF22	NM_173588.3	22	11,371,6091	AA,AG,GG		1.039,6.9406,3.0357	benign	677/1327	18735465	393,12553	2190	4283	6473	SO:0001583	missense	283284	exon14			GGATGAGGCCGCT	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2029C>T	11.37:g.18735465G>A	ENSP00000421191:p.Leu677Phe	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	186	86	0.462366	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	90	0.04120879120879121	43	0.08739837398373984	7	0.019337016574585635	31	0.05419580419580419	9	0.011873350923482849	G	11.57	1.678099	0.29783	0.069406	0.01039	ENSG00000179057	ENST00000513874	T	0.67345	-0.26	3.98	-0.847	0.10730	.	0.595612	0.12747	U	0.442523	T	0.03608	0.0103	L	0.46741	1.465	0.09310	N	1	P	0.38335	0.627	B	0.40375	0.327	T	0.07520	-1.0768	10	0.54805	T	0.06	.	3.4011	0.07324	0.1161:0.4819:0.2682:0.1338	rs11024769;rs17495509;rs11024769	677	D6RGV7	.	F	677	ENSP00000421191:L677F	ENSP00000322422:L677F	L	-	1	0	IGSF22	18692041	0.000000	0.05858	0.002000	0.10522	0.211000	0.24417	-0.048000	0.11944	0.000000	0.14550	0.448000	0.29417	CTC	G|0.963;A|0.037	0.037	strong		0.627	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18735465	G	A	18735465	3	1	23	1	0	0	0	0	1	0	0	0	7600	1000	35	2	1991	2	IGSF22	11	18735465	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	248160	18735465	116271051	2717	19173										
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077755	19077755	+	Silent	SNP	A	A	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggctgaggacgtagacAgagaaggcgttcctgcgcat					rs11024969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:19077755A>C	ENST00000329773.2	-	2	282	c.195T>G	c.(193-195)tcT>tcG	p.S65S		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	65					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S65S(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGACGTAGACAGAGAAGGCGT	0.557													A|||	566	0.113019	0.1944	0.036	5008	,	,		18324	0.1468		0.0656	False		,,,				2504	0.0716				p.S65S	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											MRGPRX2,NS,carcinoma,0,1	MRGPRX2	42	1	1	Substitution - coding silent(1)	stomach(1)	c.T195G						PASS	.	A		701,3697		61,579,1559	84	92	89		195	-4.8	0	11	dbSNP_120	89	428,8158		7,414,3872	no	coding-synonymous	MRGPRX2	NM_054030.2		68,993,5431	CC,CA,AA		4.9849,15.9391,8.6953		65/331	19077755	1129,11855	2199	4293	6492	SO:0001819	synonymous_variant	117194	exon2			GTAGACAGAGAAG		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.195T>G	11.37:g.19077755A>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	78	40	0.512821	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	CCDS7847.1																																																																																			A|0.900;C|0.100	0.100	strong		0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		C	19077755	A	C	19077755	2	2	23	1	0	0	0	0	0	0	0	1	9767	175	7	5		5	MRGPRX2	11	19077755	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	342290	19077755	115928761	2718	19174	394	2								
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077765	19077765	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacgtagacagagaaggcgTtcctgcgcatgcggaagccc					rs10833049	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:19077765T>C	ENST00000329773.2	-	2	272	c.185A>G	c.(184-186)aAc>aGc	p.N62S		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049). {ECO:0000269|PubMed:15862286, ECO:0000269|Ref.5}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.N62S(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAGAAGGCGTTCCTGCGCAT	0.562													T|||	1595	0.31849	0.5265	0.2781	5008	,	,		17944	0.2659		0.2614	False		,,,				2504	0.1789				p.N62S	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											MRGPRX2,NS,carcinoma,0,1	MRGPRX2	42	1	1	Substitution - Missense(1)	stomach(1)	c.A185G						PASS	.	T	SER/ASN	2074,2324		504,1066,629	82	90	87		185	1.4	0	11	dbSNP_120	87	2283,6303		301,1681,2311	yes	missense	MRGPRX2	NM_054030.2	46	805,2747,2940	CC,CT,TT		26.5898,47.1578,33.5567	probably-damaging	62/331	19077765	4357,8627	2199	4293	6492	SO:0001583	missense	117194	exon2			AAGGCGTTCCTGC		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.185A>G	11.37:g.19077765T>C	ENSP00000333800:p.Asn62Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	74	38	0.513514	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	690	0.3159340659340659	257	0.5223577235772358	102	0.281767955801105	142	0.24825174825174826	189	0.24934036939313983	.	14.37	2.515471	0.44763	0.471578	0.265898	ENSG00000183695	ENST00000329773	T	0.09073	3.02	5.14	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.079983	0.52532	D	0.000064	T	0.00012	0.0000	L	0.58428	1.81	0.80722	P	0.0	D	0.56521	0.976	P	0.57283	0.817	T	0.48570	-0.9024	9	0.66056	D	0.02	.	2.9449	0.05842	0.1426:0.0803:0.1486:0.6285	rs10833049;rs52795288;rs60268974;rs10833049	62	Q96LB1	MRGX2_HUMAN	S	62	ENSP00000333800:N62S	ENSP00000333800:N62S	N	-	2	0	MRGPRX2	19034341	0.172000	0.23043	0.001000	0.08648	0.447000	0.32167	0.390000	0.20768	0.130000	0.18549	0.533000	0.62120	AAC	C|0.329;G|0.000;T|0.671	0.329	strong		0.562	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		C	19077765	T	C	19077765	3	2	23	1	0	0	0	0	1	0	0	0	9767	1725	60	2	811	2	MRGPRX2	11	19077765	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10	19077765	115928751	2719	19175	394	2								
MRGPRX2	117194	hgsc.bcm.edu	37	chr11	19077904	19077904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagggcttggtcatttccatTcactgttgtactttctgttc	8	9	3	0	rs11024970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:19077904T>G	ENST00000329773.2	-	2	133	c.46A>C	c.(46-48)Aat>Cat	p.N16H		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	16			N -> H (in dbSNP:rs11024970). {ECO:0000269|PubMed:15862286}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCATTTCCATTCACTGTTGTA	0.532													T|||	566	0.113019	0.1944	0.036	5008	,	,		18231	0.1468		0.0656	False		,,,				2504	0.0716				p.N16H	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											.	MRGPRX2	42	.	0			c.A46C						PASS	.	T	HIS/ASN	702,3696		61,580,1558	192	208	203		46	3.9	0	11	dbSNP_120	203	428,8158		7,414,3872	yes	missense	MRGPRX2	NM_054030.2	68	68,994,5430	GG,GT,TT		4.9849,15.9618,8.703	probably-damaging	16/331	19077904	1130,11854	2199	4293	6492	SO:0001583	missense	117194	exon2			TTCCATTCACTGT		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.46A>C	11.37:g.19077904T>G	ENSP00000333800:p.Asn16His	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	115	58	0.504348	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	219	0.10027472527472528	92	0.18699186991869918	14	0.03867403314917127	67	0.11713286713286714	46	0.06068601583113457	.	15.60	2.882651	0.51908	0.159618	0.049849	ENSG00000183695	ENST00000329773	T	0.06687	3.27	5.04	3.91	0.45181	.	1.260630	0.05164	N	0.498462	T	0.00039	0.0001	L	0.54323	1.7	0.80722	P	0.0	P	0.50617	0.937	P	0.58266	0.836	T	0.13150	-1.0520	9	0.72032	D	0.01	.	6.4342	0.21815	0.0:0.1872:0.0:0.8128	rs11024970;rs52815501;rs59607758;rs11024970	16	Q96LB1	MRGX2_HUMAN	H	16	ENSP00000333800:N16H	ENSP00000333800:N16H	N	-	1	0	MRGPRX2	19034480	0.000000	0.05858	0.048000	0.18961	0.032000	0.12392	0.063000	0.14410	1.052000	0.40392	0.533000	0.62120	AAT	T|0.899;G|0.101	0.101	strong		0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		G	19077904	T	G	19077904	3	3	23	1	0	0	0	0	1	0	0	0	9767	1783	62	5	950	5	MRGPRX2	11	19077904	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	139	19077904	115928612	2720	19176										
NAV2	89797	hgsc.bcm.edu	37	chr11	19735325	19735325	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcccatcctgcacgtgccCccggcccgggcgggccccca	13	22	0	0	rs11828836	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:19735325C>A	ENST00000396087.3	+	1	183	c.84C>A	c.(82-84)ccC>ccA	p.P28P	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396085.1_Silent_p.P28P|NAV2_ENST00000349880.4_Silent_p.P28P|RP11-359E10.1_ENST00000603468.1_lincRNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	28					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						TGCACGTgcccccggcccggg	0.662													C|||	112	0.0223642	0.0825	0.0043	5008	,	,		13608	0.0		0.0	False		,,,				2504	0.0				p.P28P		Atlas-SNP	.											.	NAV2	255	.	0			c.C84A						PASS	.	C	,,	269,4121		8,253,1934	20	22	21		,84,84	4.4	1	11	dbSNP_120	21	5,8571		0,5,4283	no	intron,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	8,258,6217	AA,AC,CC		0.0583,6.1276,2.1132	,,	,28/2430,28/2433	19735325	274,12692	2195	4288	6483	SO:0001819	synonymous_variant	89797	exon1			CGTGCCCCCGGCC	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.84C>A	11.37:g.19735325C>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	21	9	0.428571	NM_145117	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.975;A|0.025	0.025	strong		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19735325	C	A	19735325	2	1	23	1	0	0	0	0	0	0	0	1	10184	610	22	4		4	NAV2	11	19735325	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	657421	19735325	115271191	2721	19177										
NAV2	89797	hgsc.bcm.edu	37	chr11	20089944	20089944	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accacccagctgacagcaaaTgtaagtacagacatagggca	9	11	0	2	rs1442710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:20089944T>C	ENST00000396087.3	+	24	5250	c.5151T>C	c.(5149-5151)aaT>aaC	p.N1717N	NAV2_ENST00000360655.4_Splice_Site_p.N1597N|NAV2_ENST00000396085.1_Splice_Site_p.N1661N|NAV2_ENST00000527559.2_Splice_Site_p.N1646N|NAV2_ENST00000349880.4_Splice_Site_p.N1661N|NAV2_ENST00000540292.1_Splice_Site_p.N1648N|NAV2_ENST00000311043.8_Splice_Site_p.N725N|NAV2_ENST00000533917.1_Splice_Site_p.N725N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717					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						TGACAGCAAATGTAAGTACAG	0.512													T|||	1573	0.314097	0.348	0.2853	5008	,	,		18294	0.5526		0.1928	False		,,,				2504	0.1677				p.N1717N		Atlas-SNP	.											.	NAV2	255	.	0			c.T5151C						PASS	.	T	,,,	1394,3012	459.6+/-352.3	218,958,1027	89	84	86		4791,2175,4983,4983	3.1	1	11	dbSNP_88	86	1589,7011	295.8+/-302.6	147,1295,2858	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	365,2253,3885	CC,CT,TT		18.4767,31.6387,22.9356	,,,	1597/2366,725/1494,1661/2430,1661/2433	20089944	2983,10023	2203	4300	6503	SO:0001630	splice_region_variant	89797	exon24			AGCAAATGTAAGT	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.5151+1T>C	11.37:g.20089944T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			T|0.724;C|0.276	0.276	strong		0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	Silent	C	20089944	T	C	20089944	5	2	23	1	0	0	0	0	0	0	1	0	10184	1478	51	2	5178	2	NAV2	11	20089944	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	354619	20089944	114916572	2722	19178										
SLC6A5	9152	hgsc.bcm.edu	37	chr11	20673867	20673867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagcttttaccagtgggaGcccatgacctatggctctta	9	11	2	1	rs2276433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:20673867G>A	ENST00000525748.1	+	15	2376	c.2103G>A	c.(2101-2103)gaG>gaA	p.E701E	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	701					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCAGTGGGAGCCCATGACCT	0.468													G|||	2395	0.478235	0.1543	0.5562	5008	,	,		16796	0.8234		0.4414	False		,,,				2504	0.5429				p.E701E		Atlas-SNP	.											.	SLC6A5	151	.	0			c.G2103A						PASS	.	G		816,3590	325.3+/-299.0	71,674,1458	224	197	206		2103	-2.2	1	11	dbSNP_100	206	3395,5205	502.8+/-375.8	681,2033,1586	no	coding-synonymous	SLC6A5	NM_004211.3		752,2707,3044	AA,AG,GG		39.4767,18.5202,32.3774		701/798	20673867	4211,8795	2203	4300	6503	SO:0001819	synonymous_variant	9152	exon15			GTGGGAGCCCATG	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2103G>A	11.37:g.20673867G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	174	170	0.977012	NM_004211	O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																			G|0.601;T|0.003	.	strong		0.468	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		A	20673867	G	A	20673867	2	1	23	1	0	0	0	0	0	0	0	1	14687	962	34	2		2	SLC6A5	11	20673867	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	583923	20673867	114332649	2723	19179										
NELL1	4745	hgsc.bcm.edu	37	chr11	20805335	20805335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgtacagcagaagccatcCacttcaggagtgatactgtc	9	11	1	2	rs2280363	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:20805335C>T	ENST00000357134.5	+	3	446	c.294C>T	c.(292-294)tcC>tcT	p.S98S	NELL1_ENST00000298925.5_Silent_p.S126S|NELL1_ENST00000325319.5_Silent_p.S98S|NELL1_ENST00000532434.1_Silent_p.S98S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	98	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGCCATCCACTTCAGGAG	0.428													C|||	1374	0.274361	0.4523	0.1513	5008	,	,		20056	0.1607		0.2575	False		,,,				2504	0.2556				p.S98S		Atlas-SNP	.											NELL1,NS,carcinoma,0,1	NELL1	179	1	0			c.C294T						PASS	.	C	,	1934,2472	550.2+/-378.0	418,1098,687	118	106	110		294,294	-11.8	0	11	dbSNP_100	110	2072,6528	360.5+/-332.0	253,1566,2481	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	671,2664,3168	TT,TC,CC		24.093,43.8947,30.8012	,	98/811,98/764	20805335	4006,9000	2203	4300	6503	SO:0001819	synonymous_variant	4745	exon3			GCCATCCACTTCA	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.294C>T	11.37:g.20805335C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	107	59	0.551402	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	CCDS7855.1																																																																																			C|0.716;T|0.284	0.284	strong		0.428	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	20805335	C	T	20805335	2	4	23	1	0	0	0	0	0	0	0	1	10333	581	21	2		2	NELL1	11	20805335	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	131468	20805335	114201181	2724	19180										
LGR4	55366	hgsc.bcm.edu	37	chr11	27406844	27406844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaaatgcaaagtcagggatGcttgagatcttgttgagagc	13	5	2	2	rs6484295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:27406844G>A	ENST00000379214.4	-	5	1016	c.573C>T	c.(571-573)agC>agT	p.S191S	LGR4_ENST00000480977.2_Silent_p.S143S|LGR4_ENST00000389858.4_Silent_p.S167S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	191					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTCAGGGATGCTTGAGATCT	0.473													G|||	1825	0.364417	0.3654	0.2219	5008	,	,		17834	0.4494		0.3082	False		,,,				2504	0.4346				p.S191S		Atlas-SNP	.											.	LGR4	87	.	0			c.C573T						PASS	.	G		1465,2939	473.3+/-356.6	256,953,993	124	130	128		573	5.8	1	11	dbSNP_116	128	2643,5955	426.7+/-355.4	407,1829,2063	no	coding-synonymous	LGR4	NM_018490.2		663,2782,3056	AA,AG,GG		30.7397,33.2652,31.5951		191/952	27406844	4108,8894	2202	4299	6501	SO:0001819	synonymous_variant	55366	exon5			AGGGATGCTTGAG	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.573C>T	11.37:g.27406844G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	87	43	0.494253	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	CCDS31449.1																																																																																			G|0.665;A|0.335	0.335	strong		0.473	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		A	27406844	G	A	27406844	2	1	23	1	0	0	0	0	0	0	0	1	8756	1310	46	2		2	LGR4	11	27406844	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6601509	27406844	107599672	2725	19181										
QSER1	79832	hgsc.bcm.edu	37	chr11	32996805	32996805	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttataggagtttgctgtCgatccagagaaaatacagtt	9	5	0	1	rs11032076	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:32996805C>T	ENST00000399302.2	+	12	5318	c.4983C>T	c.(4981-4983)gtC>gtT	p.V1661V	QSER1_ENST00000527788.1_Silent_p.V1422V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1661										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGTTTGCTGTCGATCCAGAGA	0.308													c|||	295	0.0589058	0.0015	0.0994	5008	,	,		15385	0.005		0.1481	False		,,,				2504	0.0716				p.V1661V		Atlas-SNP	.											QSER1,caecum,carcinoma,0,1	QSER1	153	1	0			c.C4983T						scavenged	.	T		98,3494		2,94,1700	97	92	93		4983	-2.5	1	11	dbSNP_120	93	1124,7000		72,980,3010	no	coding-synonymous	QSER1	NM_001076786.1		74,1074,4710	TT,TC,CC		13.8355,2.7283,10.4302		1661/1736	32996805	1222,10494	1796	4062	5858	SO:0001819	synonymous_variant	79832	exon12			TGCTGTCGATCCA	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4983C>T	11.37:g.32996805C>T		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	80	32	0.4	NM_001076786	Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	CCDS41631.1	158	0.07234432234432235	1	0.0020325203252032522	44	0.12154696132596685	3	0.005244755244755245	110	0.14511873350923482	c	7.557	0.663876	0.14710	0.027283	0.138355	ENSG00000060749	ENST00000524678	.	.	.	5.67	-2.55	0.06288	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.21999	-1.0229	3	.	.	.	.	6.1626	0.20372	0.2699:0.3365:0.0:0.3936	rs11032076;rs17756863;rs61521589;rs11032076	.	.	.	L	682	.	.	S	+	2	0	QSER1	32953381	0.998000	0.40836	0.972000	0.41901	0.923000	0.55619	0.465000	0.22004	-0.725000	0.04901	-1.873000	0.00551	TCG	C|0.907;T|0.093	0.093	strong		0.308	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32996805	C	T	32996805	2	4	23	1	0	0	0	0	0	0	0	1	12882	871	31	1		1	QSER1	11	32996805	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5589961	32996805	102009711	2726	19182										
TCP11L1	55346	hgsc.bcm.edu	37	chr11	33094059	33094059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttagaaacctaccttgcctCgggtcatcagaagccattgc	8	13	2	2	rs118146715	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:33094059C>T	ENST00000334274.4	+	10	1767	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	TCP11L1_ENST00000432887.1_Missense_Mutation_p.S456L|TCP11L1_ENST00000531632.2_Missense_Mutation_p.S456L|TCP11L1_ENST00000324357.9_Missense_Mutation_p.S235L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	456						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TACCTTGCCTCGGGTCATCAG	0.468													C|||	35	0.00698882	0.0008	0.013	5008	,	,		21564	0.0		0.0209	False		,,,				2504	0.0041				p.S456L		Atlas-SNP	.											.	TCP11L1	40	.	0			c.C1367T						PASS	.	C	LEU/SER,LEU/SER	19,4385	25.3+/-52.1	0,19,2183	146	142	143		1367,1367	4.5	0.9	11	dbSNP_132	143	204,8392	89.4+/-151.6	3,198,4097	yes	missense,missense	TCP11L1	NM_001145541.1,NM_018393.3	145,145	3,217,6280	TT,TC,CC		2.3732,0.4314,1.7154	benign,benign	456/510,456/510	33094059	223,12777	2202	4298	6500	SO:0001583	missense	55346	exon10			TTGCCTCGGGTCA	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1367C>T	11.37:g.33094059C>T	ENSP00000335595:p.Ser456Leu	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	156	71	0.455128	NM_001145541	D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	CCDS7882.1	22	0.010073260073260074	0	0.0	5	0.013812154696132596	0	0.0	17	0.022427440633245383	C	8.952	0.968328	0.18659	0.004314	0.023732	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.41	4.49	0.54785	.	0.251591	0.41194	D	0.000930	T	0.03651	0.0104	L	0.31476	0.935	0.53005	D	0.999963	B	0.24043	0.096	B	0.16722	0.016	T	0.09618	-1.0666	10	0.07175	T	0.84	-13.5004	15.6932	0.77473	0.0:0.8509:0.1491:0.0	.	456	Q9NUJ3	T11L1_HUMAN	L	456;456;456;235	ENSP00000335595:S456L;ENSP00000433067:S456L;ENSP00000395070:S456L;ENSP00000316279:S235L	ENSP00000316279:S235L	S	+	2	0	TCP11L1	33050635	0.993000	0.37304	0.912000	0.35992	0.958000	0.62258	3.009000	0.49552	1.243000	0.43853	0.313000	0.20887	TCG	C|0.986;T|0.014	0.014	strong		0.468	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		T	33094059	C	T	33094059	3	4	23	1	0	0	0	0	1	0	0	0	15711	893	31	1	1401	1	TCP11L1	11	33094059	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	97254	33094059	101912457	2727	19183										
C11orf41	25758	hgsc.bcm.edu	37	chr11	33581306	33581306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgattcagattgtgagcacGtccaatgcctcccaggcagt	10	11	1	3	rs2281380	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:33581306G>A	ENST00000321505.4	+	6	3156	c.2976G>A	c.(2974-2976)acG>acA	p.T992T	KIAA1549L_ENST00000389726.3_Silent_p.T998T|KIAA1549L_ENST00000265654.5_Silent_p.T998T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	992						integral component of membrane (GO:0016021)											TTGTGAGCACGTCCAATGCCT	0.582													G|||	1948	0.388978	0.469	0.3213	5008	,	,		22143	0.3264		0.3887	False		,,,				2504	0.3937				p.T992T		Atlas-SNP	.											.	.	.	.	0			c.G2976A						PASS	.	G		1926,2268		480,966,651	83	80	81		2976	-5.2	1	11	dbSNP_100	81	3268,5198		645,1978,1610	no	coding-synonymous	C11orf41	NM_012194.2		1125,2944,2261	AA,AG,GG		38.6015,45.9227,41.0269		992/1850	33581306	5194,7466	2097	4233	6330	SO:0001819	synonymous_variant	25758	exon6			GAGCACGTCCAAT	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2976G>A	11.37:g.33581306G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	192	88	0.458333	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2	846	0.3873626373626374	227	0.4613821138211382	126	0.34806629834254144	188	0.32867132867132864	305	0.4023746701846966	G	7.557	0.663994	0.14710	0.459227	0.386015	ENSG00000110427	ENST00000526400	.	.	.	5.42	-5.21	0.02815	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999989427	.	.	.	.	.	.	T	0.44697	-0.9311	3	.	.	.	-8.4917	5.8334	0.18593	0.6112:0.1336:0.1659:0.0893	rs2281380;rs59777290;rs2281380	.	.	.	H	390	.	.	R	+	2	0	C11orf41	33537882	0.018000	0.18449	0.951000	0.38953	0.712000	0.41017	-0.872000	0.04219	-0.823000	0.04301	0.573000	0.79308	CGT	G|0.613;A|0.387	0.387	strong		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33581306	G	A	33581306	2	1	23	1	0	0	0	0	0	0	0	1	1640	1132	40	1		1	C11orf41	11	33581306	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	487247	33581306	101425210	2728	19184										
CD44	960	hgsc.bcm.edu	37	chr11	35222681	35222681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacagaaccaggactggacCcagtggaacccaagccattc	9	13	0	1	rs35356320	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:35222681C>T	ENST00000428726.2	+	8	1098	c.975C>T	c.(973-975)acC>acT	p.T325T	CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Silent_p.T325T|CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Silent_p.T325T|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Silent_p.T282T|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_Silent_p.T325T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	325	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|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 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGGACTGGACCCAGTGGAACC	0.418													C|||	137	0.0273562	0.0166	0.049	5008	,	,		19029	0.0		0.0686	False		,,,				2504	0.0123				p.T325T		Atlas-SNP	.											.	CD44	48	.	0			c.C975T						PASS	.	C	,,,,,,,	99,4305	80.9+/-119.3	1,97,2104	148	151	150		975,846,,,,,,	-6	0	11	dbSNP_126	150	504,8092	144.7+/-200.5	16,472,3810	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron,intron	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	,,,,,,,	17,569,5914	TT,TC,CC		5.8632,2.248,4.6385	,,,,,,,	325/743,282/700,,,,,,	35222681	603,12397	2202	4298	6500	SO:0001819	synonymous_variant	960	exon8			CTGGACCCAGTGG	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.975C>T	11.37:g.35222681C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	64	33	0.515625	NM_000610	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	CCDS7897.1	89	0.04075091575091575	10	0.02032520325203252	19	0.052486187845303865	0	0.0	60	0.079155672823219	C	3.793	-0.043357	0.07452	0.02248	0.058632	ENSG00000026508	ENST00000528455;ENST00000524922;ENST00000526553	.	.	.	5.49	-5.96	0.02234	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	2.0058	4.4764	0.11746	0.3631:0.1692:0.3913:0.0764	rs35356320;rs61752931	.	.	.	S	177;70;18	.	.	P	+	1	0	CD44	35179257	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	-2.207000	0.01230	-0.939000	0.03709	0.655000	0.94253	CCA	C|0.956;T|0.044	0.044	strong		0.418	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		T	35222681	C	T	35222681	2	4	23	1	0	0	0	0	0	0	0	1	3017	610	22	2		2	CD44	11	35222681	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1641375	35222681	99783835	2729	19185										
PRR5L	79899	hgsc.bcm.edu	37	chr11	36472800	36472800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagtgagagttatttgcaActggaggagctggtgaagca	14	6	0	2	rs3740958	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:36472800A>G	ENST00000378867.3	+	9	982	c.627A>G	c.(625-627)caA>caG	p.Q209Q	PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Silent_p.Q136Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Silent_p.Q209Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	209					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTTATTTGCAACTGGAGGAGC	0.537													A|||	1025	0.204673	0.1679	0.111	5008	,	,		23939	0.377		0.1282	False		,,,				2504	0.2219				p.Q209Q		Atlas-SNP	.											.	PRR5L	35	.	0			c.A627G						PASS	.	A	,,,	720,3684	296.4+/-284.2	46,628,1528	185	160	168		627,243,,627	2.2	1	11	dbSNP_107	168	1111,7485	229.3+/-264.0	77,957,3264	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	,,,	123,1585,4792	GG,GA,AA		12.9246,16.3488,14.0846	,,,	209/369,81/241,,209/369	36472800	1831,11169	2202	4298	6500	SO:0001819	synonymous_variant	79899	exon9			TTTGCAACTGGAG		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.627A>G	11.37:g.36472800A>G		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	278	134	0.482014	NM_024841	A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	ENST00000378867.3	37	CCDS31463.1																																																																																			A|0.833;G|0.167	0.167	strong		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		G	36472800	A	G	36472800	2	3	23	1	0	0	0	0	0	0	0	1	12602	40	2	2		2	PRR5L	11	36472800	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1250119	36472800	98533716	2730	19186										
RAG1	5896	hgsc.bcm.edu	37	chr11	36597313	36597313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagataggggaagtgtataAgaatcccaatgcttccaaag	11	6	0	2	rs2227973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:36597313A>G	ENST00000299440.5	+	2	2571	c.2459A>G	c.(2458-2460)aAg>aGg	p.K820R		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	820			K -> R (in dbSNP:rs2227973).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGTGTATAAGAATCCCAAT	0.458									Familial Hemophagocytic Lymphohistiocytosis				A|||	1292	0.257987	0.0847	0.2795	5008	,	,		20870	0.5665		0.1193	False		,,,				2504	0.3016				p.K820R	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Atlas-SNP	.											.	RAG1	151	.	0			c.A2459G	GRCh37	CM068079	RAG1	M	rs2227973	PASS	.	A	ARG/LYS	474,3930	220.4+/-237.8	25,424,1753	62	63	63		2459	2.6	0.4	11	dbSNP_98	63	981,7615	211.0+/-251.7	54,873,3371	yes	missense	RAG1	NM_000448.2	26	79,1297,5124	GG,GA,AA		11.4123,10.7629,11.1923	benign	820/1044	36597313	1455,11545	2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGTATAAGAATCC	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2459A>G	11.37:g.36597313A>G	ENSP00000299440:p.Lys820Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	101	51	0.504951	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	538	0.24633699633699635	33	0.06707317073170732	73	0.20165745856353592	340	0.5944055944055944	92	0.12137203166226913	A	12.48	1.949342	0.34377	0.107629	0.114123	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86562	-2.14;-2.14	6.13	2.58	0.30949	.	0.434403	0.26231	N	0.025575	T	0.00012	0.0000	L	0.58428	1.81	0.09310	P	0.9999999999147186	B	0.06786	0.001	B	0.11329	0.006	T	0.41805	-0.9488	9	0.87932	D	0	.	9.8233	0.40896	0.8084:0.0:0.1916:0.0	rs2227973;rs3829279;rs58239341;rs2227973	820	P15918	RAG1_HUMAN	R	820	ENSP00000434610:K820R;ENSP00000299440:K820R	ENSP00000299440:K820R	K	+	2	0	RAG1	36553889	1.000000	0.71417	0.393000	0.26258	0.992000	0.81027	2.867000	0.48428	0.204000	0.20548	0.524000	0.50904	AAG	A|0.820;G|0.180	0.180	strong		0.458	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		G	36597313	A	G	36597313	3	3	23	1	0	0	0	0	1	0	0	0	13003	72	3	3	2461	3	RAG1	11	36597313	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	124513	36597313	98409203	2731	19187										
TTC17	55761	hgsc.bcm.edu	37	chr11	43472746	43472746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaggtattacaaaatctCggcaaagaccaatatccaca	5	11	1	1	rs11551137	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:43472746C>T	ENST00000039989.4	+	21	2975	c.2961C>T	c.(2959-2961)ctC>ctT	p.L987L		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	987					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TACAAAATCTCGGCAAAGACC	0.423													C|||	416	0.0830671	0.0023	0.2579	5008	,	,		19439	0.0317		0.0954	False		,,,				2504	0.1084				p.L987L		Atlas-SNP	.											.	TTC17	112	.	0			c.C2961T						PASS	.	C		96,4310	77.8+/-116.1	0,96,2107	99	91	94		2961	0.3	1	11	dbSNP_120	94	764,7836	182.2+/-230.7	33,698,3569	no	coding-synonymous	TTC17	NM_018259.5		33,794,5676	TT,TC,CC		8.8837,2.1788,6.6123		987/1142	43472746	860,12146	2203	4300	6503	SO:0001819	synonymous_variant	55761	exon21			AAATCTCGGCAAA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2961C>T	11.37:g.43472746C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	68	31	0.455882	NM_018259	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1	179	0.08195970695970696	2	0.0040650406504065045	85	0.23480662983425415	18	0.03146853146853147	74	0.09762532981530343	C	9.492	1.100985	0.20552	0.021788	0.088837	ENSG00000052841	ENST00000418561	.	.	.	5.84	0.274	0.15654	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.20240	-1.0281	3	.	.	.	-11.7732	6.2318	0.20738	0.0:0.1449:0.3789:0.4762	rs11551137;rs12420769;rs17594421;rs11551137	.	.	.	L	6	.	.	S	+	2	0	TTC17	43429322	0.906000	0.30813	1.000000	0.80357	0.985000	0.73830	-0.334000	0.07883	0.109000	0.17891	-0.300000	0.09419	TCG	C|0.929;T|0.071	0.071	strong		0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		T	43472746	C	T	43472746	2	4	23	1	0	0	0	0	0	0	0	1	16681	871	31	1		1	TTC17	11	43472746	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6875433	43472746	91533770	2732	19188										
HSD17B12	51144	hgsc.bcm.edu	37	chr11	43702530	43702530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcggcccggggctcggagaAtgggcaggtgagtcggatgc	20	9	0	2	rs56168061	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:43702530A>G	ENST00000278353.4	+	1	272	c.153A>G	c.(151-153)gaA>gaG	p.E51E	HSD17B12_ENST00000395700.4_Silent_p.E51E|HSD17B12_ENST00000529261.1_Intron	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	51					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						GGCTCGGAGAATGGGCAGGTG	0.697													A|||	511	0.102037	0.0817	0.1066	5008	,	,		11188	0.001		0.1938	False		,,,				2504	0.136				p.E51E	Ovarian(58;548 1143 13948 16572 34258)	Atlas-SNP	.											HSD17B12,NS,carcinoma,0,1	HSD17B12	25	1	0			c.A153G						scavenged	.	A		399,3997		19,361,1818	17	19	18		153	1.8	1	11	dbSNP_129	18	1843,6753		215,1413,2670	no	coding-synonymous	HSD17B12	NM_016142.2		234,1774,4488	GG,GA,AA		21.4402,9.0764,17.2568		51/313	43702530	2242,10750	2198	4298	6496	SO:0001819	synonymous_variant	51144	exon1			CGGAGAATGGGCA	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.153A>G	11.37:g.43702530A>G		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_016142	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	CCDS7905.1																																																																																			A|0.873;G|0.127	0.127	strong		0.697	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			G	43702530	A	G	43702530	2	3	23	1	0	0	0	0	0	0	0	1	7381	98	4	2		2	HSD17B12	11	43702530	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	229784	43702530	91303986	2733	19189										
ALX4	60529	hgsc.bcm.edu	37	chr11	44286566	44286566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccatgtgcgtctggcccacGtgactgccagccccagacac	10	18	1	2	rs3802805	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:44286566G>A	ENST00000329255.3	-	4	1177	c.1074C>T	c.(1072-1074)caC>caT	p.H358H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	358					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTGGCCCACGTGACTGCCAG	0.677													G|||	1795	0.358427	0.1248	0.5202	5008	,	,		16259	0.5258		0.334	False		,,,				2504	0.4121				p.H358H		Atlas-SNP	.											ALX4,NS,adenoma,0,1	ALX4	58	1	0			c.C1074T						PASS	.	G		733,3673	291.0+/-281.2	66,601,1536	47	43	45		1074	3	1	11	dbSNP_107	45	2838,5760	430.8+/-356.6	470,1898,1931	no	coding-synonymous	ALX4	NM_021926.3		536,2499,3467	AA,AG,GG		33.0077,16.6364,27.4608		358/412	44286566	3571,9433	2203	4299	6502	SO:0001819	synonymous_variant	60529	exon4			GCCCACGTGACTG	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1074C>T	11.37:g.44286566G>A		Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	122	118	0.967213	NM_021926	Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	CCDS31468.1																																																																																			G|0.699;A|0.301	0.301	strong		0.677	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			A	44286566	G	A	44286566	2	1	23	1	0	0	0	0	0	0	0	1	558	1136	40	1		1	ALX4	11	44286566	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	584036	44286566	90719950	2734	19190										
ALX4	60529	hgsc.bcm.edu	37	chr11	44296946	44296946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatggccagctgttcccgCgcatacacgtctgggtagtg	12	13	2	0	rs11037928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:44296946C>T	ENST00000329255.3	-	2	832	c.729G>A	c.(727-729)gcG>gcA	p.A243A		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	243					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTGTTCCCGCGCATACACGT	0.622													C|||	294	0.0587061	0.0703	0.0836	5008	,	,		18659	0.003		0.1193	False		,,,				2504	0.0204				p.A243A		Atlas-SNP	.											ALX4,NS,carcinoma,-1,1	ALX4	58	1	0			c.G729A						scavenged	.	C		340,4066	180.1+/-208.5	12,316,1875	96	95	95		729	-7.5	0.5	11	dbSNP_120	95	982,7616	212.2+/-252.6	47,888,3364	no	coding-synonymous	ALX4	NM_021926.3		59,1204,5239	TT,TC,CC		11.4213,7.7167,10.1661		243/412	44296946	1322,11682	2203	4299	6502	SO:0001819	synonymous_variant	60529	exon2			TTCCCGCGCATAC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.729G>A	11.37:g.44296946C>T		Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	164	74	0.451219	NM_021926	Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	CCDS31468.1																																																																																			C|0.915;T|0.085	0.085	strong		0.622	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			T	44296946	C	T	44296946	2	4	23	1	0	0	0	0	0	0	0	1	558	755	27	1		1	ALX4	11	44296946	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10380	44296946	90709570	2735	19191										
MAPK8IP1	9479	hgsc.bcm.edu	37	chr11	45924057	45924057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacagccacccagatggcaCctccgggtggtccccctgct	11	18	0	1	rs117665789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:45924057C>T	ENST00000241014.2	+	5	909	c.739C>T	c.(739-741)Cct>Tct	p.P247S	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.P237S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	247	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGATGGCACCTCCGGGTGG	0.706													C|||	16	0.00319489	0.0	0.0029	5008	,	,		13357	0.0		0.0109	False		,,,				2504	0.0031				p.P247S		Atlas-SNP	.											.	MAPK8IP1	51	.	0			c.C739T						PASS	.	C	SER/PRO	7,4359		0,7,2176	11	14	13		739	4.5	0.9	11	dbSNP_132	13	88,8478		0,88,4195	yes	missense	MAPK8IP1	NM_005456.3	74	0,95,6371	TT,TC,CC		1.0273,0.1603,0.7346	possibly-damaging	247/712	45924057	95,12837	2183	4283	6466	SO:0001583	missense	9479	exon5			ATGGCACCTCCGG		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.739C>T	11.37:g.45924057C>T	ENSP00000241014:p.Pro247Ser	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	72	37	0.513889	NM_005456	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	10	0.004578754578754579	0	0.0	0	0.0	2	0.0034965034965034965	8	0.010554089709762533	C	13.85	2.358998	0.41801	0.001603	0.010273	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36699	1.24;1.25	4.51	4.51	0.55191	.	0.065445	0.64402	D	0.000011	T	0.18551	0.0445	N	0.24115	0.695	0.45541	D	0.998496	P	0.43750	0.816	B	0.37267	0.245	T	0.03514	-1.1029	10	0.27785	T	0.31	-3.6985	17.7712	0.88493	0.0:1.0:0.0:0.0	.	247	Q9UQF2	JIP1_HUMAN	S	247;237	ENSP00000241014:P247S;ENSP00000378991:P237S	ENSP00000241014:P247S	P	+	1	0	MAPK8IP1	45880633	0.428000	0.25522	0.877000	0.34402	0.627000	0.37826	3.856000	0.55964	2.504000	0.84457	0.561000	0.74099	CCT	C|0.993;T|0.007	0.007	strong		0.706	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		T	45924057	C	T	45924057	3	4	23	1	0	0	0	0	1	0	0	0	9284	507	18	2	757	2	MAPK8IP1	11	45924057	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1627111	45924057	89082459	2736	19192										
AMBRA1	55626	hgsc.bcm.edu	37	chr11	46564235	46564235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacagacagcaaactcacCgaagaggcactggttctggg	12	11	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:46564235C>T	ENST00000458649.2	-	7	1750	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	AMBRA1_ENST00000298834.3_Silent_p.S444S|AMBRA1_ENST00000314845.3_Silent_p.S354S|AMBRA1_ENST00000534300.1_Silent_p.S444S|AMBRA1_ENST00000528950.1_Silent_p.S444S|AMBRA1_ENST00000426438.1_Silent_p.S444S|AMBRA1_ENST00000533727.1_Silent_p.S354S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	444					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCAAACTCACCGAAGAGGCAC	0.587																																					p.S354S		Atlas-SNP	.											AMBRA1_ENST00000458649,NS,carcinoma,-1,2	AMBRA1	201	2	0			c.G1062A						scavenged	.						71	70	70					11																	46564235		2201	4299	6500	SO:0001819	synonymous_variant	55626	exon8			ACTCACCGAAGAG	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1332G>A	11.37:g.46564235C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	170	3	0.0176471	NM_001267783	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																				.	.	none		0.587	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		T	46564235	C	T	46564235	2	4	23	1	0	0	0	0	0	0	0	1	565	639	23	1		1	AMBRA1	11	46564235	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	640178	46564235	88442281	2737	19193										
ARFGAP2	84364	hgsc.bcm.edu	37	chr11	47188411	47188411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcgaggcctgagctccggCtctccacttccctccggttt	9	17	1	1	rs3740691	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47188411C>T	ENST00000524782.1	-	13	1460	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N	ARFGAP2_ENST00000319543.6_Missense_Mutation_p.S142N|ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.S304N|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S275N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	411	Required for interaction with coatomer.		S -> N (in dbSNP:rs3740691). {ECO:0000269|PubMed:12880961}.		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGAGCTCCGGCTCTCCACTTC	0.562													C|||	1946	0.388578	0.6853	0.2435	5008	,	,		22014	0.124		0.335	False		,,,				2504	0.4182				p.S411N		Atlas-SNP	.											.	ARFGAP2	43	.	0			c.G1232A						PASS	.	C	ASN/SER,ASN/SER	2697,1705	651.6+/-399.3	837,1023,341	121	125	123		1148,1232	3.8	0.9	11	dbSNP_107	123	2729,5869	435.0+/-357.9	432,1865,2002	no	missense,missense	ARFGAP2	NM_001242832.1,NM_032389.4	46,46	1269,2888,2343	TT,TC,CC		31.7399,38.7324,41.7385	benign,benign	383/494,411/522	47188411	5426,7574	2201	4299	6500	SO:0001583	missense	84364	exon13			CTCCGGCTCTCCA	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1232G>A	11.37:g.47188411C>T	ENSP00000434442:p.Ser411Asn	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	86	37	0.430233	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	747	0.34203296703296704	319	0.6483739837398373	94	0.2596685082872928	81	0.14160839160839161	253	0.3337730870712401	C	11.84	1.757403	0.31137	0.612676	0.317399	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342	T;T;T;T;T	0.18016	3.37;3.5;3.1;3.22;2.24	5.67	3.76	0.43208	.	0.420602	0.32106	N	0.006579	T	0.00012	0.0000	L	0.28192	0.835	0.39789	P	0.027595000000000036	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.28744	-1.0034	9	0.25751	T	0.34	-1.2283	6.6827	0.23129	0.1396:0.6627:0.1237:0.074	rs3740691;rs57763298;rs3740691	304;275;411	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	N	275;411;142;304;118	ENSP00000400226:S275N;ENSP00000434442:S411N;ENSP00000327309:S142N;ENSP00000389264:S304N;ENSP00000437305:S118N	ENSP00000327309:S142N	S	-	2	0	ARFGAP2	47144987	0.994000	0.37717	0.864000	0.33941	0.722000	0.41435	0.616000	0.24344	0.703000	0.31848	0.655000	0.94253	AGC	C|0.607;T|0.393	0.393	strong		0.562	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		T	47188411	C	T	47188411	3	4	23	1	0	0	0	0	1	0	0	0	850	797	28	2	349	2	ARFGAP2	11	47188411	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	624176	47188411	87818105	2738	19194										
ACP2	53	hgsc.bcm.edu	37	chr11	47270255	47270255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaagcgcagactccgggccCgggtgggcggcatcaccacc	15	16	1	1	rs2167079	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47270255C>T	ENST00000256997.3	-	1	202	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000444355.2_Missense_Mutation_p.R29Q|ACP2_ENST00000527256.1_Missense_Mutation_p.R29Q|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000533929.1_5'Flank|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.R29Q|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.R29Q|ACP2_ENST00000530453.1_Missense_Mutation_p.R29Q	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	29			R -> Q (in dbSNP:rs2167079). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACTCCGGGCCCGGGTGGGCGG	0.622													T|||	2589	0.516973	0.6203	0.3458	5008	,	,		17244	0.7768		0.3002	False		,,,				2504	0.454				p.R29Q	Melanoma(90;262 1440 11488 44828 48531)	Atlas-SNP	.											.	ACP2	36	.	0			c.G86A						PASS	.	T	GLN/ARG,GLN/ARG	2452,1934		672,1108,413	20	22	22		86,86	5.7	1	11	dbSNP_96	22	2478,6114		353,1772,2171	yes	missense,missense	ACP2	NM_001131064.1,NM_001610.2	43,43	1025,2880,2584	TT,TC,CC		28.8408,44.0948,37.9874	benign,benign	29/161,29/424	47270255	4930,8048	2193	4296	6489	SO:0001583	missense	53	exon1			CGGGCCCGGGTGG	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.86G>A	11.37:g.47270255C>T	ENSP00000256997:p.Arg29Gln	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	131	65	0.496183	NM_001610	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	1078	0.4935897435897436	279	0.5670731707317073	139	0.3839779005524862	425	0.743006993006993	235	0.3100263852242744	T	17.86	3.491528	0.64074	0.559052	0.288408	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000540414;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T	0.40476	3.19;3.02;3.31;2.82;1.61;1.6;1.03	5.69	5.69	0.88448	.	0.394063	0.27591	N	0.018686	T	0.00012	0.0000	N	0.02539	-0.55	0.09310	P	0.9999999999999996	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.40496	-0.9560	9	0.02654	T	1	.	9.8795	0.41225	0.0:0.0786:0.0:0.9214	rs2167079;rs2228400;rs58523292;rs2167079	29;29;29;29;29	E9PCI1;E9PHY0;B7Z7D2;F5H1S6;P11117	.;.;.;.;PPAL_HUMAN	Q	29	ENSP00000256997:R29Q;ENSP00000436658:R29Q;ENSP00000432205:R29Q;ENSP00000436487:R29Q;ENSP00000434205:R29Q;ENSP00000414911:R29Q;ENSP00000436828:R29Q	ENSP00000256997:R29Q	R	-	2	0	ACP2	47226831	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	1.370000	0.34238	1.092000	0.41356	-0.254000	0.11334	CGG	C|0.559;T|0.441	0.441	strong		0.622	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		T	47270255	C	T	47270255	3	4	23	1	0	0	0	0	1	0	0	0	163	652	23	1	1262	1	ACP2	11	47270255	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	81844	47270255	87736261	2739	19195										
MADD	8567	hgsc.bcm.edu	37	chr11	47306585	47306585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcattggcaaatcgaacGtggacagacgtcaggcagaa	12	10	1	2	rs1051006	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47306585G>A	ENST00000311027.5	+	13	2416	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	MADD_ENST00000395344.3_Missense_Mutation_p.V751M|MADD_ENST00000402799.1_Missense_Mutation_p.V751M|MADD_ENST00000406482.1_Missense_Mutation_p.V751M|MADD_ENST00000342922.4_Missense_Mutation_p.V751M|MADD_ENST00000407859.3_Missense_Mutation_p.V751M|MADD_ENST00000402192.2_Missense_Mutation_p.V751M|MADD_ENST00000349238.3_Missense_Mutation_p.V751M|MADD_ENST00000395336.3_Missense_Mutation_p.V751M	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAATCGAACGTGGACAGACG	0.552													G|||	1678	0.335064	0.3873	0.2608	5008	,	,		19647	0.622		0.162	False		,,,				2504	0.1994				p.V751M		Atlas-SNP	.											.	MADD	172	.	0			c.G2251A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1517,2885	481.4+/-359.1	266,985,950	91	88	89		2251,2251,2251,2251,2251,2251,2251,2251,2251,2251	-5.5	0	11	dbSNP_86	89	1414,7182	271.7+/-289.7	118,1178,3002	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	21,21,21,21,21,21,21,21,21,21	384,2163,3952	AA,AG,GG		16.4495,34.4616,22.5496	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	751/1545,751/1542,751/1648,751/1589,751/1566,751/1546,751/1609,751/1480,751/1582,751/1588	47306585	2931,10067	2201	4298	6499	SO:0001583	missense	8567	exon13			TCGAACGTGGACA	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2251G>A	11.37:g.47306585G>A	ENSP00000310933:p.Val751Met	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	85	47	0.552941	NM_130474		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	711	0.32554945054945056	153	0.31097560975609756	100	0.27624309392265195	331	0.5786713286713286	127	0.16754617414248021	G	11.28	1.593369	0.28357	0.344616	0.164495	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06068	3.42;3.35;3.35;3.41;3.4;3.36;3.36;3.4;3.42	5.88	-5.48	0.02592	.	0.643077	0.16526	N	0.210600	T	0.00012	0.0000	N	0.02011	-0.69	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B;B;B;B	0.27932	0.122;0.008;0.006;0.013;0.062;0.194;0.002;0.006;0.003;0.003	B;B;B;B;B;B;B;B;B;B	0.20577	0.014;0.001;0.005;0.004;0.012;0.03;0.002;0.004;0.002;0.005	T	0.37549	-0.9701	9	0.35671	T	0.21	0.0134	4.5741	0.12225	0.5719:0.1332:0.1482:0.1467	rs1051006;rs3736103;rs17702266;rs58641924;rs1051006	751;751;751;751;751;751;751;751;751;751	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	M	751	ENSP00000343902:V751M;ENSP00000385585:V751M;ENSP00000384435:V751M;ENSP00000304505:V751M;ENSP00000310933:V751M;ENSP00000384204:V751M;ENSP00000378753:V751M;ENSP00000378745:V751M;ENSP00000384287:V751M	ENSP00000310933:V751M	V	+	1	0	MADD	47263161	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.823000	0.04443	-0.592000	0.05851	0.655000	0.94253	GTG	G|0.733;A|0.267	0.267	strong		0.552	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47306585	G	A	47306585	3	1	23	1	0	0	0	0	1	0	0	0	9152	1145	40	1	2297	1	MADD	11	47306585	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36330	47306585	87699931	2740	19196										
MADD	8567	hgsc.bcm.edu	37	chr11	47306628	47306628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagaggggtcagtgcgccGgcgaatctatgacaatccat	14	9	2	2	rs3736101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47306628G>A	ENST00000311027.5	+	13	2459	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Missense_Mutation_p.R765Q|MADD_ENST00000407859.3_Intron|MADD_ENST00000402192.2_Missense_Mutation_p.R765Q|MADD_ENST00000349238.3_Missense_Mutation_p.R765Q|MADD_ENST00000395336.3_Missense_Mutation_p.R765Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAGTGCGCCGGCGAATCTAT	0.562													G|||	370	0.0738818	0.025	0.0677	5008	,	,		19379	0.0516		0.1163	False		,,,				2504	0.1237				p.R765Q		Atlas-SNP	.											.	MADD	172	.	0			c.G2294A						PASS	.	G	,,GLN/ARG,GLN/ARG,,,GLN/ARG,,GLN/ARG,GLN/ARG	176,4226	115.0+/-153.0	2,172,2027	98	92	94		,,2294,2294,,,2294,,2294,2294	0.7	0.9	11	dbSNP_107	94	900,7696	200.9+/-244.5	43,814,3441	yes	intron,intron,missense,missense,intron,intron,missense,intron,missense,missense	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	,,43,43,,,43,,43,43	45,986,5468	AA,AG,GG		10.47,3.9982,8.2782	,,benign,benign,,,benign,,benign,benign	,,765/1648,765/1589,,,765/1609,,765/1582,765/1588	47306628	1076,11922	2201	4298	6499	SO:0001583	missense	8567	exon13			TGCGCCGGCGAAT	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2294G>A	11.37:g.47306628G>A	ENSP00000310933:p.Arg765Gln	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_130470		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	158	0.07234432234432235	13	0.026422764227642278	30	0.08287292817679558	33	0.057692307692307696	82	0.10817941952506596	G	11.01	1.511868	0.27036	0.039982	0.1047	ENSG00000110514	ENST00000342922;ENST00000349238;ENST00000311027;ENST00000395336;ENST00000402192	T;T;T;T;T	0.05382	3.45;3.5;3.5;3.5;3.45	5.99	0.696	0.18075	.	0.309294	0.34002	N	0.004345	T	0.00109	0.0003	N	0.24115	0.695	0.80722	P	0.0	B;B;B;B	0.12013	0.001;0.001;0.0;0.005	B;B;B;B	0.08055	0.003;0.002;0.001;0.003	T	0.43556	-0.9384	9	0.24483	T	0.36	-0.2463	10.2559	0.43397	0.5124:0.0:0.4875:0.0	rs3736101;rs3736101	765;765;765;765	Q8WXG6-7;Q8WXG6-2;Q8WXG6;Q8WXG6-3	.;.;MADD_HUMAN;.	Q	765	ENSP00000343902:R765Q;ENSP00000304505:R765Q;ENSP00000310933:R765Q;ENSP00000378745:R765Q;ENSP00000384287:R765Q	ENSP00000310933:R765Q	R	+	2	0	MADD	47263204	0.028000	0.19301	0.890000	0.34922	0.952000	0.60782	0.100000	0.15231	-0.117000	0.11872	0.655000	0.94253	CGG	G|0.922;A|0.078	0.078	strong		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47306628	G	A	47306628	3	1	23	1	0	0	0	0	1	0	0	0	9152	1116	39	1	2340	1	MADD	11	47306628	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43	47306628	87699888	2741	19197										
MYBPC3	4607	hgsc.bcm.edu	37	chr11	47354787	47354787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcactgtgtacccccagagCtccgtgttgccgacatcctg	10	15	0	1	rs1052373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47354787C>T	ENST00000545968.1	-	30	3342	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	MYBPC3_ENST00000256993.4_Silent_p.E1095E|MYBPC3_ENST00000399249.2_Silent_p.E1096E	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1096	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCCCCAGAGCTCCGTGTTGC	0.637													C|||	2385	0.476238	0.5083	0.3329	5008	,	,		19715	0.7202		0.3072	False		,,,				2504	0.4571				p.E1096E		Atlas-SNP	.											.	MYBPC3	102	.	0			c.G3288A						PASS	.	C		1833,2133		433,967,583	41	47	45		3288	2.4	0.7	11	dbSNP_86	45	2524,5782		385,1754,2014	yes	coding-synonymous	MYBPC3	NM_000256.3		818,2721,2597	TT,TC,CC		30.3877,46.2179,35.5036		1096/1275	47354787	4357,7915	1983	4153	6136	SO:0001819	synonymous_variant	4607	exon29			CCAGAGCTCCGTG	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3288G>A	11.37:g.47354787C>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	147	143	0.972789	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																			C|0.557;T|0.443	0.443	strong		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47354787	C	T	47354787	2	4	23	1	0	0	0	0	0	0	0	1	10013	796	28	2		2	MYBPC3	11	47354787	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	48159	47354787	87651729	2742	19198										
MYBPC3	4607	hgsc.bcm.edu	37	chr11	47365164	47365164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtaggccggctccagctTcttctgaaaggctgagcacc	12	13	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47365164T>C	ENST00000545968.1	-	13	1156	c.1102A>G	c.(1102-1104)Aag>Gag	p.K368E	MYBPC3_ENST00000256993.4_Missense_Mutation_p.K368E|MYBPC3_ENST00000399249.2_Missense_Mutation_p.K368E	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	368	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCTCCAGCTTCTTCTGAAAG	0.647																																					p.K368E		Atlas-SNP	.											.	MYBPC3	102	.	0			c.A1102G						PASS	.						52	50	51					11																	47365164		1941	4129	6070	SO:0001583	missense	4607	exon13			CCAGCTTCTTCTG	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1102A>G	11.37:g.47365164T>C	ENSP00000442795:p.Lys368Glu	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	t	25.9	4.686390	0.88639	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67865	-0.29;-0.29;-0.29	4.99	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79587	0.4471	M	0.77616	2.38	0.46396	D	0.999024	D	0.69078	0.997	D	0.68621	0.959	T	0.80899	-0.1176	9	0.51188	T	0.08	.	11.5285	0.50595	0.0:0.0:0.1496:0.8504	.	368	Q14896	MYPC3_HUMAN	E	368	ENSP00000442795:K368E;ENSP00000382193:K368E;ENSP00000256993:K368E	ENSP00000256993:K368E	K	-	1	0	MYBPC3	47321740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.639000	0.54339	2.103000	0.63969	0.456000	0.33151	AAG	.	.	none		0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			C	47365164	T	C	47365164	3	2	23	1	0	0	0	0	1	0	0	0	10013	1792	62	2	2806	2	MYBPC3	11	47365164	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10377	47365164	87641352	2743	19199										
MYBPC3	4607	hgsc.bcm.edu	37	chr11	47370041	47370041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacacctcacagcggtagcTgccagtgaaggcaggctggg	16	11	1	1	rs3729989	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47370041T>C	ENST00000545968.1	-	6	760	c.706A>G	c.(706-708)Agc>Ggc	p.S236G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.S236G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.S236G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	236	Ig-like C2-type 1.		S -> G (in dbSNP:rs3729989). {ECO:0000269|PubMed:12379228, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15519027, ECO:0000269|PubMed:15582318, ECO:0000269|PubMed:18403758, ECO:0000269|Ref.4}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGCGGTAGCTGCCAGTGAAG	0.617													C|||	336	0.0670927	0.0431	0.0836	5008	,	,		18193	0.0268		0.1412	False		,,,				2504	0.0532				p.S236G		Atlas-SNP	.											.	MYBPC3	102	.	0			c.A706G	GRCh37	CM043536	MYBPC3	M	rs3729989	PASS	.	C	GLY/SER	239,3925		8,223,1851	46	57	53		706	5.1	0.9	11	dbSNP_107	53	1060,7334		69,922,3206	yes	missense	MYBPC3	NM_000256.3	56	77,1145,5057	CC,CT,TT		12.6281,5.7397,10.344	benign	236/1275	47370041	1299,11259	2082	4197	6279	SO:0001583	missense	4607	exon6			GGTAGCTGCCAGT	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.706A>G	11.37:g.47370041T>C	ENSP00000442795:p.Ser236Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	137	75	0.547445	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	189	0.08653846153846154	32	0.06504065040650407	38	0.10497237569060773	14	0.024475524475524476	105	0.13852242744063326	C	4.342	0.062968	0.08388	0.057397	0.126281	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	5.12	5.12	0.69794	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00210	0.0006	N	0.00317	-1.655	0.47659	P	5.169999999999897E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	8	0.02654	T	1	.	13.8315	0.63384	0.0:0.9259:0.0:0.0741	rs3729989;rs57344110;rs3729989	236	Q14896	MYPC3_HUMAN	G	236	ENSP00000442795:S236G;ENSP00000382193:S236G;ENSP00000256993:S236G	ENSP00000256993:S236G	S	-	1	0	MYBPC3	47326617	0.252000	0.23972	0.859000	0.33776	0.579000	0.36224	2.559000	0.45888	1.170000	0.42753	-0.215000	0.12644	AGC	T|0.916;C|0.084	0.084	strong		0.617	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			C	47370041	T	C	47370041	3	2	23	1	0	0	0	0	1	0	0	0	10013	1580	55	3	3227	3	MYBPC3	11	47370041	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4877	47370041	87636475	2744	19200										
SLC39A13	91252	hgsc.bcm.edu	37	chr11	47431764	47431764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagccggccctccggagccGggggactgcgacggcctgtc	16	17	0	0	rs35741412	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47431764G>A	ENST00000362021.4	+	2	161	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	RP11-750H9.5_ENST00000532340.1_RNA|SLC39A13_ENST00000524928.1_Missense_Mutation_p.R40Q|RP11-750H9.5_ENST00000532943.1_RNA|SLC39A13_ENST00000533076.1_Missense_Mutation_p.R40Q|SLC39A13_ENST00000531974.1_Missense_Mutation_p.R40Q|SLC39A13_ENST00000354884.4_Missense_Mutation_p.R40Q	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	40					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CTCCGGAGCCGGGGGACTGCG	0.687													G|||	38	0.00758786	0.0015	0.013	5008	,	,		13659	0.0		0.0258	False		,,,				2504	0.001				p.R40Q		Atlas-SNP	.											.	SLC39A13	18	.	0			c.G119A						PASS	.	G	GLN/ARG,GLN/ARG	15,4387	20.2+/-43.8	0,15,2186	30	36	34		119,119	2.8	0.9	11	dbSNP_126	34	214,8382	84.5+/-147.0	2,210,4086	yes	missense,missense	SLC39A13	NM_001128225.2,NM_152264.4	43,43	2,225,6272	AA,AG,GG		2.4895,0.3408,1.7618	benign,benign	40/372,40/365	47431764	229,12769	2201	4298	6499	SO:0001583	missense	91252	exon2			GGAGCCGGGGGAC		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.119G>A	11.37:g.47431764G>A	ENSP00000354689:p.Arg40Gln	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_152264	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	25	0.011446886446886446	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	17	0.022427440633245383	G	12.31	1.899337	0.33535	0.003408	0.024895	ENSG00000165915	ENST00000533076;ENST00000531974;ENST00000531419;ENST00000531865;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000527091;ENST00000524928	T;T;T;T;T;T;T;T;T	0.70869	-0.49;0.97;0.96;-0.52;-0.38;-0.19;-0.03;0.97;0.91	5.05	2.85	0.33270	.	1.028510	0.07690	N	0.938611	T	0.29850	0.0746	N	0.14661	0.345	0.21527	N	0.999657	B;B;B	0.21688	0.019;0.013;0.059	B;B;B	0.13407	0.001;0.003;0.009	T	0.31194	-0.9952	10	0.07813	T	0.8	-1.9191	2.8954	0.05689	0.0997:0.1541:0.5026:0.2436	rs35741412;rs61897433	40;40;40	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	Q	40	ENSP00000434290:R40Q;ENSP00000435845:R40Q;ENSP00000432302:R40Q;ENSP00000434684:R40Q;ENSP00000354689:R40Q;ENSP00000346956:R40Q;ENSP00000432499:R40Q;ENSP00000435076:R40Q;ENSP00000437186:R40Q	ENSP00000346956:R40Q	R	+	2	0	SLC39A13	47388340	1.000000	0.71417	0.932000	0.37286	0.500000	0.33767	1.734000	0.38166	0.884000	0.36064	0.491000	0.48974	CGG	G|0.984;A|0.016	0.016	strong		0.687	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		A	47431764	G	A	47431764	3	1	23	1	0	0	0	0	1	0	0	0	14616	1116	39	1	121	1	SLC39A13	11	47431764	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61723	47431764	87574752	2745	19201										
AGBL2	79841	hgsc.bcm.edu	37	chr11	47711820	47711820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcatctggggagttgctaAggatgaagtccaaaaagcct	14	7	1	1	rs76215382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47711820A>G	ENST00000525123.1	-	10	1724	c.1439T>C	c.(1438-1440)cTt>cCt	p.L480P	AGBL2_ENST00000298861.4_Missense_Mutation_p.L480P|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.L442P|AGBL2_ENST00000357610.3_Missense_Mutation_p.L480P	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	480						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGAGTTGCTAAGGATGAAGTC	0.473													A|||	38	0.00758786	0.0008	0.0014	5008	,	,		19580	0.0198		0.0109	False		,,,				2504	0.0051				p.L480P		Atlas-SNP	.											.	AGBL2	73	.	0			c.T1439C						PASS	.	A	PRO/LEU	20,4382	27.2+/-55.0	0,20,2181	90	93	92		1439	6	1	11	dbSNP_131	92	141,8455	68.7+/-131.2	1,139,4158	yes	missense	AGBL2	NM_024783.3	98	1,159,6339	GG,GA,AA		1.6403,0.4543,1.2387	probably-damaging	480/903	47711820	161,12837	2201	4298	6499	SO:0001583	missense	79841	exon10			TTGCTAAGGATGA		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1439T>C	11.37:g.47711820A>G	ENSP00000435582:p.Leu480Pro	Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	246	108	0.439024	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	18	0.008241758241758242	0	0.0	0	0.0	9	0.015734265734265736	9	0.011873350923482849	A	13.74	2.327068	0.41197	0.004543	0.016403	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.96	5.96	0.96718	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	H	0.94658	3.565	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.74348	0.983;0.979;0.979	T	0.60193	-0.7311	10	0.87932	D	0	-16.6469	16.4484	0.83959	1.0:0.0:0.0:0.0	.	442;442;480	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	P	480;480;480;442	ENSP00000435582:L480P;ENSP00000350228:L480P;ENSP00000298861:L480P;ENSP00000436630:L442P	ENSP00000298861:L480P	L	-	2	0	AGBL2	47668396	1.000000	0.71417	0.973000	0.42090	0.984000	0.73092	8.748000	0.91615	2.285000	0.76669	0.533000	0.62120	CTT	A|0.990;G|0.010	0.010	strong		0.473	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		G	47711820	A	G	47711820	3	3	23	1	0	0	0	0	1	0	0	0	376	72	3	3	1309	3	AGBL2	11	47711820	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	280056	47711820	87294696	2746	19202										
FNBP4	23360	hgsc.bcm.edu	37	chr11	47745589	47745589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacaattacctgtagctaTagctgactggctatagagaa	9	8	0	2	rs34242224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47745589T>C	ENST00000263773.5	-	14	2467	c.2455A>G	c.(2455-2457)Ata>Gta	p.I819V	Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	819						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGTAGCTATAGCTGACTGG	0.388													T|||	153	0.0305511	0.0053	0.0504	5008	,	,		18832	0.0		0.0875	False		,,,				2504	0.0235				p.I819V		Atlas-SNP	.											.	FNBP4	99	.	0			c.A2455G						PASS	.	T	VAL/ILE	58,3696		1,56,1820	107	106	106		2455	-6.8	0.7	11	dbSNP_126	106	721,7531		28,665,3433	yes	missense	FNBP4	NM_015308.2	29	29,721,5253	CC,CT,TT		8.7373,1.545,6.4884	benign	819/1018	47745589	779,11227	1877	4126	6003	SO:0001583	missense	23360	exon14			TAGCTATAGCTGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2455A>G	11.37:g.47745589T>C	ENSP00000263773:p.Ile819Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	84	47	0.559524	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	97	0.044413919413919416	6	0.012195121951219513	24	0.06629834254143646	0	0.0	67	0.08839050131926121	T	6.862	0.528323	0.13127	0.01545	0.087373	ENSG00000109920	ENST00000263773	T	0.41758	0.99	5.07	-6.82	0.01698	.	1.374210	0.03891	N	0.278631	T	0.00580	0.0019	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05971	-1.0853	9	0.27785	T	0.31	-0.4376	0.5329	0.00631	0.2012:0.2622:0.2042:0.3325	rs34242224	819	Q8N3X1	FNBP4_HUMAN	V	819	ENSP00000263773:I819V	ENSP00000263773:I819V	I	-	1	0	FNBP4	47702165	0.000000	0.05858	0.694000	0.30210	0.903000	0.53119	-2.117000	0.01326	-0.837000	0.04223	0.459000	0.35465	ATA	T|0.943;C|0.057	0.057	strong		0.388	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			C	47745589	T	C	47745589	3	2	23	1	0	0	0	0	1	0	0	0	5967	1406	49	2	614	2	FNBP4	11	47745589	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	33769	47745589	87260927	2747	19203										
NUP160	23279	hgsc.bcm.edu	37	chr11	47833936	47833936	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaattgcatggattgggttCctaatctcttgcagtttact	8	9	1	0	rs61756071	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:47833936C>T	ENST00000378460.2	-	16	2044	c.1998G>A	c.(1996-1998)agG>agA	p.R666R	NUP160_ENST00000530326.1_Silent_p.R552R|NUP160_ENST00000528501.1_Silent_p.R230R|NUP160_ENST00000528071.1_Silent_p.R552R|NUP160_ENST00000531016.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	666					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GGATTGGGTTCCTAATCTCTT	0.363													C|||	45	0.00898562	0.0023	0.0014	5008	,	,		20408	0.0238		0.0119	False		,,,				2504	0.0051				p.R666R		Atlas-SNP	.											.	NUP160	116	.	0			c.G1998A						PASS	.	C		19,4383	28.1+/-56.4	0,19,2182	164	155	158		1998	-0.1	1	11	dbSNP_129	158	143,8453	70.7+/-133.2	1,141,4156	no	coding-synonymous	NUP160	NM_015231.1		1,160,6338	TT,TC,CC		1.6636,0.4316,1.2463		666/1437	47833936	162,12836	2201	4298	6499	SO:0001819	synonymous_variant	23279	exon16			TGGGTTCCTAATC	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1998G>A	11.37:g.47833936C>T		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	216	97	0.449074	NM_015231	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	CCDS31484.1																																																																																			C|0.989;T|0.011	0.011	strong		0.363	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		T	47833936	C	T	47833936	2	4	23	1	0	0	0	0	0	0	0	1	10757	854	30	2		2	NUP160	11	47833936	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	88347	47833936	87172580	2748	19204										
PTPRJ	5795	hgsc.bcm.edu	37	chr11	48145166	48145166	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgtatttttaaaatagaGccgatcccagtttctgatct	7	7	2	2	rs2270993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:48145166G>A	ENST00000418331.2	+	5	970	c.618G>A	c.(616-618)gaG>gaA	p.E206E	PTPRJ_ENST00000440289.2_Splice_Site_p.E206E	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	206	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.E206E(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTAAAATAGAGCCGATCCCAG	0.483													G|||	779	0.155551	0.2337	0.1095	5008	,	,		18337	0.1597		0.1183	False		,,,				2504	0.1166				p.E206E		Atlas-SNP	.											PTPRJ,NS,carcinoma,0,1	PTPRJ	225	1	1	Substitution - coding silent(1)	stomach(1)	c.G618A						PASS	.	G	,	1025,3377	376.6+/-322.1	115,795,1291	60	59	59		618,618	-0.1	0.8	11	dbSNP_100	59	1097,7499	228.7+/-263.7	70,957,3271	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	PTPRJ	NM_001098503.1,NM_002843.3	,	185,1752,4562	AA,AG,GG		12.7617,23.2849,16.3256	,	206/540,206/1338	48145166	2122,10876	2201	4298	6499	SO:0001630	splice_region_variant	5795	exon5			AATAGAGCCGATC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.617-1G>A	11.37:g.48145166G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	74	39	0.527027	NM_001098503	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	CCDS7945.1																																																																																			G|0.843;A|0.157	0.157	strong		0.483	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		Silent	A	48145166	G	A	48145166	5	1	23	1	0	0	0	0	0	0	1	0	12804	985	34	2	636	2	PTPRJ	11	48145166	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	311230	48145166	86861350	2749	19205										
OR4B1	119765	hgsc.bcm.edu	37	chr11	48238880	48238880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggtcccaatgtgattgaCcactatttctgtgacctcca	8	11	1	3	rs10838833	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:48238880C>T	ENST00000309562.2	+	1	537	c.519C>T	c.(517-519)gaC>gaT	p.D173D		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGTGATTGACCACTATTTCT	0.483													c|||	865	0.172724	0.2859	0.121	5008	,	,		21159	0.1637		0.1233	False		,,,				2504	0.1166				p.D173D		Atlas-SNP	.											.	OR4B1	52	.	0			c.C519T						PASS	.	C		1174,3228	412.8+/-336.2	167,840,1194	146	142	143		519	1.5	1	11	dbSNP_120	143	1142,7454	235.3+/-267.9	74,994,3230	no	coding-synonymous	OR4B1	NM_001005470.1		241,1834,4424	TT,TC,CC		13.2852,26.6697,17.8181		173/310	48238880	2316,10682	2201	4298	6499	SO:0001819	synonymous_variant	119765	exon1			GATTGACCACTAT	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.519C>T	11.37:g.48238880C>T		Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	272	140	0.514706	NM_001005470	Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	CCDS31485.1																																																																																			C|0.829;T|0.171	0.171	strong		0.483	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		T	48238880	C	T	48238880	2	4	23	1	0	0	0	0	0	0	0	1	11044	506	18	2		2	OR4B1	11	48238880	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	93714	48238880	86767636	2750	19206										
OR4X2	119764	hgsc.bcm.edu	37	chr11	48266736	48266736	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgatatttctgttcttgtaCacagcaattgtgctggggaa	11	6	2	1	rs7120775	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:48266736C>G	ENST00000302329.3	+	1	129	c.81C>G	c.(79-81)taC>taG	p.Y27*		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y27*(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTCTTGTACACAGCAATTG	0.453													C|||	875	0.17472	0.2882	0.1268	5008	,	,		23916	0.1627		0.1252	False		,,,				2504	0.1186				p.Y27X		Atlas-SNP	.											OR4X2,NS,carcinoma,0,1	OR4X2	65	1	1	Substitution - Nonsense(1)	stomach(1)	c.C81G						scavenged	.	C	stop/TYR	1183,3219	414.8+/-337.0	169,845,1187	206	172	184		81	2.5	0.9	11	dbSNP_116	184	1137,7459	234.6+/-267.5	77,983,3238	yes	stop-gained	OR4X2	NM_001004727.1		246,1828,4425	GG,GC,CC		13.2271,26.8741,17.8489		27/304	48266736	2320,10678	2201	4298	6499	SO:0001587	stop_gained	119764	exon1			CTTGTACACAGCA	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.81C>G	11.37:g.48266736C>G	ENSP00000307751:p.Tyr27*	Somatic	242	2	0.00826446		WXS	Illumina HiSeq	Phase_I	190	94	0.494737	NM_001004727	B2RNK3|Q6IF73|Q96R63	Nonsense_Mutation	SNP	ENST00000302329.3	37	CCDS31486.1	364	0.16666666666666666	127	0.258130081300813	46	0.1270718232044199	93	0.16258741258741258	98	0.12928759894459102	C	18.54	3.645426	0.67358	0.268741	0.132271	ENSG00000172208	ENST00000302329	.	.	.	5.37	2.46	0.29980	.	0.000000	0.48767	D	0.000161	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8228	0.23866	0.0:0.664:0.0:0.336	rs7120775;rs7120775	.	.	.	X	27	.	ENSP00000307751:Y27X	Y	+	3	2	OR4X2	48223312	0.000000	0.05858	0.914000	0.36105	0.969000	0.65631	-0.233000	0.09041	1.255000	0.44051	0.650000	0.86243	TAC	C|0.823;G|0.176;T|0.002	0.176	strong		0.453	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		G	48266736	C	G	48266736	4	3	23	1	0	0	0	0	0	1	0	0	11085	489	17	4	83	4	OR4X2	11	48266736	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27856	48266736	86739780	2751	19207										
OR4X1	390113	hgsc.bcm.edu	37	chr11	48285906	48285906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctgattttccagctccCgttctgtggccccaacatca	6	16	2	1	rs16905753	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:48285906C>T	ENST00000320048.1	+	1	494	c.494C>T	c.(493-495)cCg>cTg	p.P165L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	165			P -> L (in dbSNP:rs16905753).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P165L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTCCAGCTCCCGTTCTGTGGC	0.562													C|||	915	0.182708	0.3185	0.1268	5008	,	,		21065	0.1627		0.1252	False		,,,				2504	0.1186				p.P165L		Atlas-SNP	.											OR4X1,NS,adenoma,-1,2	OR4X1	75	2	1	Substitution - Missense(1)	stomach(1)	c.C494T						PASS	.	C	LEU/PRO	1261,3141	431.2+/-342.8	191,879,1131	104	92	96		494	4.3	0.9	11	dbSNP_123	96	1155,7441	236.4+/-268.6	77,1001,3220	yes	missense	OR4X1	NM_001004726.1	98	268,1880,4351	TT,TC,CC		13.4365,28.6461,18.5875	benign	165/306	48285906	2416,10582	2201	4298	6499	SO:0001583	missense	390113	exon1			AGCTCCCGTTCTG	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.494C>T	11.37:g.48285906C>T	ENSP00000321506:p.Pro165Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	187	85	0.454545	NM_001004726	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	368	0.1684981684981685	134	0.27235772357723576	45	0.12430939226519337	93	0.16258741258741258	96	0.1266490765171504	C	16.41	3.116671	0.56505	0.286461	0.134365	ENSG00000176567	ENST00000320048	T	0.00158	8.65	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	M	0.84683	2.71	0.37564	P	0.08081799999999995	P	0.37663	0.604	B	0.39419	0.299	T	0.44528	-0.9322	8	0.87932	D	0	.	14.7726	0.69691	0.0:1.0:0.0:0.0	rs16905753;rs52801988;rs16905753	165	Q8NH49	OR4X1_HUMAN	L	165	ENSP00000321506:P165L	ENSP00000321506:P165L	P	+	2	0	OR4X1	48242482	0.044000	0.20184	0.948000	0.38648	0.688000	0.40055	3.311000	0.51919	2.404000	0.81709	0.539000	0.68188	CCG	C|0.822;T|0.178	0.178	strong		0.562	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		T	48285906	C	T	48285906	3	4	23	1	0	0	0	0	1	0	0	0	11084	652	23	1	496	1	OR4X1	11	48285906	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19170	48285906	86720610	2752	19208										
OR4A5	81318	hgsc.bcm.edu	37	chr11	51411918	51411918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagaaagggagactgtacaCaacaatttgaaacgcagaat	9	7	0	4	rs150995059	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:51411918C>T	ENST00000319760.6	-	1	530	c.478G>A	c.(478-480)Gtg>Atg	p.V160M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGACTGTACACAACAATTTGA	0.448													.|||	15	0.00299521	0.0008	0.0014	5008	,	,		21527	0.0		0.0089	False		,,,				2504	0.0041				p.V160M		Atlas-SNP	.											.	OR4A5	116	.	0			c.G478A						PASS	.	C	MET/VAL	10,4392		0,10,2191	79	71	74		478	1	0.1	11	dbSNP_134	74	109,8483		1,107,4188	no	missense	OR4A5	NM_001005272.3	21	1,117,6379	TT,TC,CC		1.2686,0.2272,0.9158	benign	160/316	51411918	119,12875	2201	4296	6497	SO:0001583	missense	81318	exon1			TGTACACAACAAT	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.478G>A	11.37:g.51411918C>T	ENSP00000367664:p.Val160Met	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	148	72	0.486486	NM_001005272	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	.	2.005	-0.428430	0.04701	0.002272	0.012686	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	0.984	0.19773	GPCR, rhodopsin-like superfamily (1);	0.547041	0.15102	N	0.280442	T	0.00073	0.0002	N	0.11673	0.155	0.09310	N	0.999999	B	0.33739	0.422	B	0.41666	0.363	T	0.03493	-1.1031	10	0.33141	T	0.24	.	4.1454	0.10214	0.0:0.6238:0.0:0.3762	.	160	Q8NH83	OR4A5_HUMAN	M	160	ENSP00000367664:V160M	ENSP00000367664:V160M	V	-	1	0	OR4A5	51268494	0.000000	0.05858	0.070000	0.20053	0.214000	0.24535	-0.808000	0.04515	0.371000	0.24564	0.162000	0.16502	GTG	C|0.993;T|0.007	0.007	strong		0.448	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51411918	C	T	51411918	3	4	23	1	0	0	0	0	1	0	0	0	11043	478	17	2	473	2	OR4A5	11	51411918	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3126012	51411918	83594598	2753	19209										
OR4A16	81327	hgsc.bcm.edu	37	chr11	55111238	55111238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattgttggaactgttgtgcCttgacacctactttatagga	9	8	0	1	rs11229158	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55111238C>A	ENST00000314721.2	+	1	612	c.562C>A	c.(562-564)Ctt>Att	p.L188I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	188			L -> I (in dbSNP:rs11229158).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTGTTGTGCCTTGACACCTA	0.423													.|||	2076	0.414537	0.1853	0.5548	5008	,	,		21969	0.5387		0.494	False		,,,				2504	0.4151				p.L188I		Atlas-SNP	.											.	OR4A16	120	.	0			c.C562A						PASS	.	C	ILE/LEU	1018,3384	727.8+/-409.9	129,760,1312	275	238	251		562	-0.1	0.9	11	dbSNP_120	251	4181,4411	584.7+/-391.8	1030,2121,1145	yes	missense	OR4A16	NM_001005274.1	5	1159,2881,2457	AA,AC,CC		48.6615,23.1259,40.0108	benign	188/329	55111238	5199,7795	2201	4296	6497	SO:0001583	missense	81327	exon1			TTGTGCCTTGACA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.562C>A	11.37:g.55111238C>A	ENSP00000325128:p.Leu188Ile	Somatic	337	1	0.00296736		WXS	Illumina HiSeq	Phase_I	304	162	0.532895	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	967	0.44276556776556775	69	0.1402439024390244	207	0.5718232044198895	307	0.5367132867132867	384	0.5065963060686016	a	2.096	-0.407234	0.04832	0.231259	0.486615	ENSG00000181961	ENST00000314721	T	0.00123	8.7	2.54	-0.125	0.13519	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.02213	-0.635	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	8	0.51188	T	0.08	.	3.4202	0.07391	0.3926:0.2067:0.0:0.4006	rs11229158;rs11229158	188	Q8NH70	O4A16_HUMAN	I	188	ENSP00000325128:L188I	ENSP00000325128:L188I	L	+	1	0	OR4A16	54867814	0.000000	0.05858	0.895000	0.35142	0.006000	0.05464	-1.795000	0.01752	-0.174000	0.10743	-1.224000	0.01588	CTT	C|0.584;A|0.416	0.416	strong		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		A	55111238	C	A	55111238	3	1	23	1	0	0	0	0	1	0	0	0	11041	681	24	4	564	4	OR4A16	11	55111238	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3699320	55111238	79895278	2754	19210										
OR4A16	81327	hgsc.bcm.edu	37	chr11	55111584	55111584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaaatctctggtgtgaaaAgttaagtatagttagaaaaa	9	2	1	2	rs10896659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55111584A>T	ENST00000314721.2	+	1	958	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	303			K -> M (in dbSNP:rs10896659).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTGTGAAAAGTTAAGTATA	0.323													.|||	2066	0.41254	0.1853	0.5504	5008	,	,		18442	0.5387		0.494	False		,,,				2504	0.408				p.K303M		Atlas-SNP	.											.	OR4A16	120	.	0			c.A908T						PASS	.	A	MET/LYS	1017,3385	362.1+/-316.0	130,757,1314	36	36	36		908	1.8	0	11	dbSNP_120	36	4172,4418	547.8+/-385.2	1032,2108,1155	yes	missense	OR4A16	NM_001005274.1	95	1162,2865,2469	TT,TA,AA		48.5681,23.1031,39.94	benign	303/329	55111584	5189,7803	2201	4295	6496	SO:0001583	missense	81327	exon1			GTGAAAAGTTAAG	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.908A>T	11.37:g.55111584A>T	ENSP00000325128:p.Lys303Met	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	56	24	0.428571	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	965	0.44184981684981683	68	0.13821138211382114	207	0.5718232044198895	307	0.5367132867132867	383	0.5052770448548812	a	10.04	1.242232	0.22796	0.231031	0.485681	ENSG00000181961	ENST00000314721	T	0.39592	1.07	3.02	1.79	0.24919	.	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.23249	0.082	B	0.22601	0.04	T	0.41288	-0.9517	8	0.49607	T	0.09	.	6.2828	0.21017	0.7663:0.0:0.0:0.2337	rs10896659;rs52838177;rs58877730;rs10896659	303	Q8NH70	O4A16_HUMAN	M	303	ENSP00000325128:K303M	ENSP00000325128:K303M	K	+	2	0	OR4A16	54868160	0.017000	0.18338	0.018000	0.16275	0.016000	0.09150	1.722000	0.38042	0.320000	0.23234	0.346000	0.21813	AAG	A|0.589;T|0.411	0.411	strong		0.323	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55111584	A	T	55111584	3	4	23	1	0	0	0	0	1	0	0	0	11041	72	3	5	910	5	OR4A16	11	55111584	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	346	55111584	79894932	2755	19211										
OR4C16	219428	hgsc.bcm.edu	37	chr11	55340379	55340379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catatttatgtacacatgccTtgcaaccgtattccccatgg	6	12	0	0	rs559449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55340379T>C	ENST00000314634.3	+	1	776	c.776T>C	c.(775-777)cTt>cCt	p.L259P		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	259			L -> P (in dbSNP:rs559449). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TACACATGCCTTGCAACCGTA	0.403													N|||	2398	0.478834	0.3275	0.5951	5008	,	,		19920	0.5446		0.5547	False		,,,				2504	0.455				p.L259P		Atlas-SNP	.											.	OR4C16	104	.	0			c.T776C						PASS	.	C	PRO/LEU	1536,2866	670.9+/-402.4	274,988,939	159	135	143		776	4.7	0.3	11	dbSNP_83	143	4721,3871	542.3+/-384.2	1321,2079,896	yes	missense	OR4C16	NM_001004701.2	98	1595,3067,1835	CC,CT,TT		45.0535,34.8932,48.153	benign	259/311	55340379	6257,6737	2201	4296	6497	SO:0001583	missense	219428	exon1			CATGCCTTGCAAC	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.776T>C	11.37:g.55340379T>C	ENSP00000324913:p.Leu259Pro	Somatic	400	1	0.0025		WXS	Illumina HiSeq	Phase_I	365	168	0.460274	NM_001004701	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	1087	0.4977106227106227	135	0.27439024390243905	219	0.6049723756906077	308	0.5384615384615384	425	0.5606860158311345	C	0.007	-1.951729	0.00470	0.348932	0.549465	ENSG00000181935	ENST00000314634	T	0.00015	9.17	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000009	T	0.00012	0.0000	N	0.00007	-3.15	0.35649	P	0.188373	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	9	0.02654	T	1	.	10.8556	0.46798	0.0:0.9081:0.0:0.0919	rs559449;rs56587050;rs56801259;rs559449	259	Q8NGL9	OR4CG_HUMAN	P	259	ENSP00000324913:L259P	ENSP00000324913:L259P	L	+	2	0	OR4C16	55096955	0.002000	0.14202	0.339000	0.25562	0.077000	0.17291	0.668000	0.25127	1.222000	0.43521	-0.231000	0.12243	CTT	T|0.517;C|0.483	0.483	strong		0.403	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		C	55340379	T	C	55340379	3	2	23	1	0	0	0	0	1	0	0	0	11049	1609	56	3	778	3	OR4C16	11	55340379	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	228795	55340379	79666137	2756	19212										
OR5D13	390142	hgsc.bcm.edu	37	chr11	55541284	55541284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagcgatggcttatgaccGttttgtggcagtttgtaaac	12	7	0	1	rs11230983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55541284G>A	ENST00000361760.1	+	1	371	c.371G>A	c.(370-372)cGt>cAt	p.R124H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	124			R -> H (in dbSNP:rs11230983).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R124H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTTATGACCGTTTTGTGGCA	0.438													A|||	514	0.102636	0.0514	0.0994	5008	,	,		20064	0.1448		0.1223	False		,,,				2504	0.1104				p.R124H		Atlas-SNP	.											OR5D13,caecum,carcinoma,0,2	OR5D13	96	2	1	Substitution - Missense(1)	stomach(1)	c.G371A						PASS	.	A	HIS/ARG	241,4159	804.0+/-415.7	10,221,1969	238	231	234		371	2.4	0.1	11	dbSNP_120	234	1021,7571	771.9+/-407.7	56,909,3331	yes	missense	OR5D13	NM_001001967.1	29	66,1130,5300	AA,AG,GG		11.8831,5.4773,9.7137	benign	124/315	55541284	1262,11730	2200	4296	6496	SO:0001583	missense	390142	exon1			ATGACCGTTTTGT	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.371G>A	11.37:g.55541284G>A	ENSP00000354800:p.Arg124His	Somatic	421	1	0.0023753		WXS	Illumina HiSeq	Phase_I	397	154	0.387909	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	250	0.11446886446886446	30	0.06097560975609756	33	0.09116022099447514	87	0.1520979020979021	100	0.13192612137203166	A	9.062	0.994853	0.19043	0.054773	0.118831	ENSG00000198877	ENST00000361760	T	0.77489	-1.1	3.3	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.339612	0.16661	N	0.204770	T	0.01320	0.0043	M	0.83384	2.64	0.49299	P	2.2500000000003073E-4	B	0.16166	0.016	B	0.17098	0.017	T	0.51505	-0.8697	9	0.62326	D	0.03	-0.0508	11.9762	0.53094	0.1038:0.0:0.8962:0.0	rs11230983;rs52789774;rs58654024;rs11230983	124	Q8NGL4	OR5DD_HUMAN	H	124	ENSP00000354800:R124H	ENSP00000354800:R124H	R	+	2	0	OR5D13	55297860	0.199000	0.23386	0.079000	0.20413	0.000000	0.00434	2.879000	0.48522	0.251000	0.21505	-1.682000	0.00735	CGT	G|0.898;A|0.102	0.102	strong		0.438	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		A	55541284	G	A	55541284	3	1	23	1	0	0	0	0	1	0	0	0	11154	1145	40	1	373	1	OR5D13	11	55541284	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	200905	55541284	79465232	2757	19213										
OR5D18	219438	hgsc.bcm.edu	37	chr11	55587914	55587914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caactccaaaaactccaggcAcacagtcaaagtggcctctg	7	14	2	0	rs55832853	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55587914A>G	ENST00000333976.4	+	1	829	c.809A>G	c.(808-810)cAc>cGc	p.H270R		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	270			H -> R (in dbSNP:rs55832853).			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(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AACTCCAGGCACACAGTCAAA	0.498													N|||	1167	0.233027	0.0204	0.3228	5008	,	,		18084	0.3889		0.2903	False		,,,				2504	0.2372				p.H270R		Atlas-SNP	.											OR5D18,NS,carcinoma,-1,1	OR5D18	121	1	0			c.A809G						scavenged	.	A	ARG/HIS	288,4112		11,266,1923	89	86	87		809	2.4	1	11	dbSNP_129	87	2368,6224		350,1668,2278	no	missense	OR5D18	NM_001001952.1	29	361,1934,4201	GG,GA,AA		27.5605,6.5455,20.4433	benign	270/314	55587914	2656,10336	2200	4296	6496	SO:0001583	missense	219438	exon1			CCAGGCACACAGT	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.809A>G	11.37:g.55587914A>G	ENSP00000335025:p.His270Arg	Somatic	127	1	0.00787402		WXS	Illumina HiSeq	Phase_I	115	56	0.486957	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	576	0.26373626373626374	15	0.03048780487804878	126	0.34806629834254144	212	0.3706293706293706	223	0.2941952506596306	.	0.046	-1.267286	0.01433	0.065455	0.275605	ENSG00000186119	ENST00000333976	T	0.00044	8.83	5.03	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.181667	0.26939	N	0.021727	T	0.00012	0.0000	N	0.13098	0.295	0.80722	P	0.0	B	0.11235	0.004	B	0.18263	0.021	T	0.25676	-1.0125	9	0.62326	D	0.03	-11.8734	5.983	0.19417	0.5245:0.1337:0.0:0.3418	rs55832853;rs61896324	270	Q8NGL1	OR5DI_HUMAN	R	270	ENSP00000335025:H270R	ENSP00000335025:H270R	H	+	2	0	OR5D18	55344490	0.000000	0.05858	0.973000	0.42090	0.199000	0.23934	0.454000	0.21827	0.236000	0.21180	-0.508000	0.04489	CAC	A|0.774;G|0.226	0.226	strong		0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		G	55587914	A	G	55587914	3	3	23	1	0	0	0	0	1	0	0	0	11157	159	6	2	811	2	OR5D18	11	55587914	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	46630	55587914	79418602	2758	19214										
OR5L2	26338	hgsc.bcm.edu	37	chr11	55594868	55594868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctctcggctccacaccccCgtgtactttttcctcagcca	6	18	2	0	rs150337368		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55594868C>T	ENST00000378397.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCACACCCCCGTGTACTTTT	0.468										HNSCC(27;0.073)			N|||	1	0.000199681	0.0	0.0	5008	,	,		20212	0.001		0.0	False		,,,				2504	0.0				p.P58P		Atlas-SNP	.											OR5L2,right_upper_lobe,carcinoma,0,1	OR5L2	135	1	1	Complex(1)	lung(1)	c.C174T						scavenged	.	C		1,4399		0,1,2199	250	230	236		174	1.2	1	11	dbSNP_134	236	4,8588		0,4,4292	no	coding-synonymous	OR5L2	NM_001004739.1		0,5,6491	TT,TC,CC		0.0466,0.0227,0.0385		58/312	55594868	5,12987	2200	4296	6496	SO:0001819	synonymous_variant	26338	exon1			CACCCCCGTGTAC	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.174C>T	11.37:g.55594868C>T		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	253	4	0.0158103	NM_001004739	Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	CCDS31511.1																																																																																			C|1.000;T|0.000	0.000	weak		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55594868	C	T	55594868	2	4	23	1	0	0	0	0	0	0	0	1	11171	639	23	1		1	OR5L2	11	55594868	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6954	55594868	79411648	2759	19215										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	850	52	0.0611765		WXS	Illumina HiSeq	Phase_I	814	59	0.0724816	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	23	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	60729	55655597	79350919	2760	19216										
OR5AS1	219447	hgsc.bcm.edu	37	chr11	55798259	55798259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagcaatggcttatgaccGctatgcagccatctgcaacc	10	13	1	1	rs12224086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55798259G>T	ENST00000313555.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122L(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCTTATGACCGCTATGCAGCC	0.453													G|||	519	0.103634	0.0477	0.0965	5008	,	,		20013	0.1458		0.1223	False		,,,				2504	0.1217				p.R122L		Atlas-SNP	.											OR5AS1,NS,carcinoma,+1,5	OR5AS1	121	5	1	Substitution - Missense(1)	stomach(1)	c.G365T						PASS	.	G	LEU/ARG	237,4165	139.2+/-174.8	9,219,1973	133	109	117		365	3.6	1	11	dbSNP_120	117	1019,7573	218.3+/-256.7	57,905,3334	yes	missense	OR5AS1	NM_001001921.1	102	66,1124,5307	TT,TG,GG		11.8599,5.3839,9.666	probably-damaging	122/325	55798259	1256,11738	2201	4296	6497	SO:0001583	missense	219447	exon1			ATGACCGCTATGC	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.365G>T	11.37:g.55798259G>T	ENSP00000324111:p.Arg122Leu	Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	287	127	0.442509	NM_001001921	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	251	0.11492673992673992	29	0.05894308943089431	33	0.09116022099447514	88	0.15384615384615385	101	0.13324538258575197	G	15.37	2.812972	0.50527	0.053839	0.118599	ENSG00000181785	ENST00000313555	T	0.77358	-1.09	5.46	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22821	U	0.055229	T	0.02156	0.0067	M	0.93978	3.48	0.31274	P	0.691424	P	0.47762	0.9	P	0.45538	0.484	T	0.55477	-0.8135	9	0.72032	D	0.01	.	11.0053	0.47631	0.154:0.0:0.846:0.0	rs12224086;rs12224086	122	Q8N127	O5AS1_HUMAN	L	122	ENSP00000324111:R122L	ENSP00000324111:R122L	R	+	2	0	OR5AS1	55554835	0.991000	0.36638	0.997000	0.53966	0.134000	0.20937	6.174000	0.71943	0.680000	0.31366	-0.148000	0.13756	CGC	A|0.000;G|0.900;T|0.099	0.099	strong		0.453	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		T	55798259	G	T	55798259	3	4	23	1	0	0	0	0	1	0	0	0	11146	1087	38	4	367	4	OR5AS1	11	55798259	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	142662	55798259	79208257	2761	19217										
OR5AS1	219447	hgsc.bcm.edu	37	chr11	55798278	55798278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctatgcagccatctgcaaCccactgctctatactacact	5	16	2	0	rs148523609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55798278C>T	ENST00000313555.1	+	1	384	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATCTGCAACCCACTGCTCT	0.468													C|||	14	0.00279553	0.0008	0.0014	5008	,	,		20153	0.0		0.0089	False		,,,				2504	0.0031				p.N128N		Atlas-SNP	.											.	OR5AS1	121	.	0			c.C384T						PASS	.	C		12,4390	21.2+/-45.6	0,12,2189	150	122	132		384	-1.9	0.3	11	dbSNP_134	132	106,8486	57.5+/-118.9	1,104,4191	no	coding-synonymous	OR5AS1	NM_001001921.1		1,116,6380	TT,TC,CC		1.2337,0.2726,0.9081		128/325	55798278	118,12876	2201	4296	6497	SO:0001819	synonymous_variant	219447	exon1			CTGCAACCCACTG	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.384C>T	11.37:g.55798278C>T		Somatic	335	1	0.00298507		WXS	Illumina HiSeq	Phase_I	295	136	0.461017	NM_001001921	Q6IFB8	Silent	SNP	ENST00000313555.1	37	CCDS31516.1																																																																																			C|0.993;T|0.007	0.007	strong		0.468	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		T	55798278	C	T	55798278	2	4	23	1	0	0	0	0	0	0	0	1	11146	506	18	2		2	OR5AS1	11	55798278	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19	55798278	79208238	2762	19218										
OR8H2	390151	hgsc.bcm.edu	37	chr11	55872657	55872657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggggaatgtggggatgAtattgataatccgcctggac	15	6	0	2	rs28681529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55872657A>C	ENST00000313503.1	+	1	139	c.139A>C	c.(139-141)Ata>Cta	p.I47L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I47L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGGGGATGATATTGATAAT	0.433										HNSCC(53;0.14)			a|||	953	0.190296	0.1604	0.1354	5008	,	,		19738	0.2351		0.2187	False		,,,				2504	0.1943				p.I47L		Atlas-SNP	.											OR8H2,NS,carcinoma,0,1	OR8H2	117	1	1	Substitution - Missense(1)	stomach(1)	c.A139C						PASS	.	A	LEU/ILE	621,3781	260.7+/-263.8	56,509,1636	302	269	280		139	2.4	0.5	11	dbSNP_125	280	1710,6880	308.5+/-308.9	167,1376,2752	no	missense	OR8H2	NM_001005200.1	5	223,1885,4388	CC,CA,AA		19.9069,14.1072,17.9418	benign	47/313	55872657	2331,10661	2201	4295	6496	SO:0001583	missense	390151	exon1			GGGATGATATTGA	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.139A>C	11.37:g.55872657A>C	ENSP00000323982:p.Ile47Leu	Somatic	308	0	0		WXS	Illumina HiSeq	Phase_I	243	106	0.436214	NM_001005200	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	363	0.1662087912087912	60	0.12195121951219512	42	0.11602209944751381	119	0.20804195804195805	142	0.18733509234828497	a	6.642	0.486861	0.12641	0.141072	0.199069	ENSG00000181767	ENST00000313503	T	0.00614	6.21	3.58	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.204125	0.35179	N	0.003382	T	0.00012	0.0000	L	0.58583	1.82	0.58432	P	6.999999999979245E-6	B	0.15141	0.012	B	0.15052	0.012	T	0.46555	-0.9183	9	0.62326	D	0.03	.	10.3431	0.43891	0.8341:0.1659:0.0:0.0	rs28681529	47	Q8N162	OR8H2_HUMAN	L	47	ENSP00000323982:I47L	ENSP00000323982:I47L	I	+	1	0	OR8H2	55629233	0.986000	0.35501	0.510000	0.27712	0.017000	0.09413	2.852000	0.48310	0.509000	0.28195	-0.724000	0.03597	ATA	A|0.582;C|0.418	0.418	strong		0.433	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		C	55872657	A	C	55872657	3	2	23	1	0	0	0	0	1	0	0	0	11238	333	12	5	141	5	OR8H2	11	55872657	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	74379	55872657	79133859	2763	19219										
OR8H2	390151	hgsc.bcm.edu	37	chr11	55873096	55873096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgtcctgcactgatacatAcaacaccgaaatcctgatat	5	12	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55873096A>G	ENST00000313503.1	+	1	578	c.578A>G	c.(577-579)tAc>tGc	p.Y193C		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACTGATACATACAACACCGAA	0.408										HNSCC(53;0.14)																											p.Y193C		Atlas-SNP	.											OR8H2,larynx,carcinoma,+1,1	OR8H2	117	1	0			c.A578G						scavenged	.						239	221	227					11																	55873096		2201	4296	6497	SO:0001583	missense	390151	exon1			ATACATACAACAC	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.578A>G	11.37:g.55873096A>G	ENSP00000323982:p.Tyr193Cys	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_001005200	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	13.03	2.116618	0.37339	.	.	ENSG00000181767	ENST00000313503	T	0.00216	8.53	3.58	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	0.517808	0.17993	N	0.155151	T	0.00300	0.0009	M	0.74389	2.26	0.09310	N	1	P	0.46859	0.885	P	0.54544	0.755	T	0.48479	-0.9032	10	0.72032	D	0.01	.	2.0379	0.03544	0.5777:0.1304:0.1648:0.1271	.	193	Q8N162	OR8H2_HUMAN	C	193	ENSP00000323982:Y193C	ENSP00000323982:Y193C	Y	+	2	0	OR8H2	55629672	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.161000	0.10026	0.065000	0.16485	0.362000	0.22060	TAC	.	.	none		0.408	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		G	55873096	A	G	55873096	3	3	23	1	0	0	0	0	1	0	0	0	11238	391	14	2	580	2	OR8H2	11	55873096	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	439	55873096	79133420	2764	19220										
OR8H2	390151	hgsc.bcm.edu	37	chr11	55873334	55873334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattccttgggaagagatcaAgtggcttctgttttttatac	9	6	2	1	rs11227212	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55873334A>G	ENST00000313503.1	+	1	816	c.816A>G	c.(814-816)caA>caG	p.Q272Q		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q272Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAGAGATCAAGTGGCTTCTG	0.373										HNSCC(53;0.14)			a|||	514	0.102636	0.0477	0.098	5008	,	,		17441	0.1429		0.1213	False		,,,				2504	0.1196				p.Q272Q		Atlas-SNP	.											OR8H2,NS,carcinoma,0,1	OR8H2	117	1	1	Substitution - coding silent(1)	stomach(1)	c.A816G						PASS	.	A		234,4168	127.4+/-164.3	7,220,1974	81	86	85		816	-0.3	0.3	11	dbSNP_120	85	1002,7588	212.1+/-252.5	54,894,3347	no	coding-synonymous	OR8H2	NM_001005200.1		61,1114,5321	GG,GA,AA		11.6647,5.3158,9.5135		272/313	55873334	1236,11756	2201	4295	6496	SO:0001819	synonymous_variant	390151	exon1			AGATCAAGTGGCT	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.816A>G	11.37:g.55873334A>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	155	63	0.406452	NM_001005200	Q6IFC1	Silent	SNP	ENST00000313503.1	37	CCDS31518.1																																																																																			A|0.902;G|0.098	0.098	strong		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		G	55873334	A	G	55873334	2	3	23	1	0	0	0	0	0	0	0	1	11238	69	3	3		3	OR8H2	11	55873334	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	238	55873334	79133182	2765	19221										
OR8H3	390152	hgsc.bcm.edu	37	chr11	55889895	55889895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggctgacttcatccttaCgggactgtcagactctgaag	11	10	3	3	rs61751933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55889895C>T	ENST00000313472.3	+	1	47	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T16M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTCATCCTTACGGGACTGTCA	0.453													C|||	520	0.103834	0.0522	0.098	5008	,	,		19669	0.1429		0.1213	False		,,,				2504	0.1196				p.T16M		Atlas-SNP	.											OR8H3,NS,carcinoma,0,1	OR8H3	92	1	1	Substitution - Missense(1)	stomach(1)	c.C47T						PASS	.	C	MET/THR	246,4156	143.1+/-178.2	7,232,1962	183	175	178		47	0.8	0.1	11	dbSNP_131	178	1007,7585	216.6+/-255.6	54,899,3343	yes	missense	OR8H3	NM_001005201.1	81	61,1131,5305	TT,TC,CC		11.7202,5.5884,9.6429	benign	16/313	55889895	1253,11741	2201	4296	6497	SO:0001583	missense	390152	exon1			TCCTTACGGGACT	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.47C>T	11.37:g.55889895C>T	ENSP00000323928:p.Thr16Met	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	199	123	0.61809	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	255	0.11675824175824176	34	0.06910569105691057	33	0.09116022099447514	88	0.15384615384615385	100	0.13192612137203166	C	0.003	-2.579330	0.00129	0.055884	0.117202	ENSG00000181761	ENST00000313472	T	0.00421	7.46	3.43	0.837	0.18896	.	0.928117	0.09163	N	0.839876	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10382	-1.0632	9	0.36615	T	0.2	.	4.4628	0.11675	0.1467:0.1847:0.0:0.6686	rs61751933	16	Q8N146	OR8H3_HUMAN	M	16	ENSP00000323928:T16M	ENSP00000323928:T16M	T	+	2	0	OR8H3	55646471	0.000000	0.05858	0.086000	0.20670	0.074000	0.17049	-0.728000	0.04925	0.329000	0.23460	-1.252000	0.01501	ACG	C|0.900;T|0.100	0.100	strong		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		T	55889895	C	T	55889895	3	4	23	1	0	0	0	0	1	0	0	0	11239	536	19	1	49	1	OR8H3	11	55889895	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16561	55889895	79116621	2766	19222										
OR8J3	81168	hgsc.bcm.edu	37	chr11	55904382	55904382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaaacacagaagccatcttAtcagtatccagtgagtggtt	8	8	2	2	rs17150102	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55904382A>C	ENST00000301529.1	-	1	812	c.813T>G	c.(811-813)gaT>gaG	p.D271E		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	271			D -> E (in dbSNP:rs17150102).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D271E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAGCCATCTTATCAGTATCCA	0.408													A|||	518	0.103435	0.0499	0.098	5008	,	,		18145	0.1438		0.1213	False		,,,				2504	0.1196				p.D271E		Atlas-SNP	.											OR8J3,NS,carcinoma,0,1	OR8J3	112	1	1	Substitution - Missense(1)	stomach(1)	c.T813G						PASS	.	A	GLU/ASP	240,4162	140.8+/-176.2	7,226,1968	136	134	135		813	0.7	1	11	dbSNP_123	135	1007,7585	216.4+/-255.5	54,899,3343	yes	missense	OR8J3	NM_001004064.1	45	61,1125,5311	CC,CA,AA		11.7202,5.4521,9.5967	probably-damaging	271/316	55904382	1247,11747	2201	4296	6497	SO:0001583	missense	81168	exon1			CATCTTATCAGTA		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.813T>G	11.37:g.55904382A>C	ENSP00000301529:p.Asp271Glu	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	257	124	0.48249	NM_001004064	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	253	0.11584249084249085	32	0.06504065040650407	33	0.09116022099447514	88	0.15384615384615385	100	0.13192612137203166	A	15.45	2.837998	0.50951	0.054521	0.117202	ENSG00000167822	ENST00000301529	T	0.00227	8.5	3.27	0.672	0.17935	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00012	0.0000	L	0.52011	1.625	0.80722	P	0.0	D	0.69078	0.997	D	0.74348	0.983	T	0.53892	-0.8374	9	0.44086	T	0.13	.	1.7242	0.02918	0.3404:0.0:0.3678:0.2918	rs17150102;rs52801432;rs17150102	271	Q8NGG0	OR8J3_HUMAN	E	271	ENSP00000301529:D271E	ENSP00000301529:D271E	D	-	3	2	OR8J3	55660958	0.000000	0.05858	0.996000	0.52242	0.699000	0.40488	-0.398000	0.07259	1.272000	0.44329	0.247000	0.18012	GAT	A|0.900;C|0.100	0.100	strong		0.408	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55904382	A	C	55904382	3	2	23	1	0	0	0	0	1	0	0	0	11242	446	16	5	136	5	OR8J3	11	55904382	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	14487	55904382	79102134	2767	19223										
OR8J3	81168	hgsc.bcm.edu	37	chr11	55904828	55904828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggttacaaatggccacatAgcggtcataggccatcacag	11	10	2	0	rs11227321	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55904828A>G	ENST00000301529.1	-	1	366	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y123H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATGGCCACATAGCGGTCATAG	0.507													A|||	517	0.103235	0.0499	0.098	5008	,	,		17549	0.1429		0.1213	False		,,,				2504	0.1196				p.Y123H		Atlas-SNP	.											OR8J3,NS,carcinoma,0,1	OR8J3	112	1	1	Substitution - Missense(1)	stomach(1)	c.T367C						PASS	.	A	HIS/TYR	240,4162	140.8+/-176.2	7,226,1968	150	137	141		367	3.3	1	11	dbSNP_120	141	1007,7585	216.6+/-255.6	54,899,3343	no	missense	OR8J3	NM_001004064.1	83	61,1125,5311	GG,GA,AA		11.7202,5.4521,9.5967	possibly-damaging	123/316	55904828	1247,11747	2201	4296	6497	SO:0001583	missense	81168	exon1			CCACATAGCGGTC		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.367T>C	11.37:g.55904828A>G	ENSP00000301529:p.Tyr123His	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	218	97	0.444954	NM_001004064	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	253	0.11584249084249085	32	0.06504065040650407	33	0.09116022099447514	88	0.15384615384615385	100	0.13192612137203166	A	16.07	3.019022	0.54576	0.054521	0.117202	ENSG00000167822	ENST00000301529	T	0.57273	0.41	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.00580	0.0019	M	0.90759	3.145	0.30023	P	0.814203	B	0.34226	0.443	B	0.40285	0.325	T	0.39418	-0.9615	9	0.46703	T	0.11	.	11.5522	0.50726	1.0:0.0:0.0:0.0	rs11227321	123	Q8NGG0	OR8J3_HUMAN	H	123	ENSP00000301529:Y123H	ENSP00000301529:Y123H	Y	-	1	0	OR8J3	55661404	0.998000	0.40836	0.952000	0.39060	0.818000	0.46254	3.920000	0.56446	1.268000	0.44264	0.240000	0.17902	TAT	A|0.901;G|0.099	0.099	strong		0.507	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		G	55904828	A	G	55904828	3	3	23	1	0	0	0	0	1	0	0	0	11242	420	15	3	582	3	OR8J3	11	55904828	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	446	55904828	79101688	2768	19224										
OR8J3	81168	hgsc.bcm.edu	37	chr11	55905078	55905078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgatgcccaggttccctgcCatggtcagcacatagagcac	10	13	1	2	rs61742348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55905078C>T	ENST00000301529.1	-	1	116	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M39I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGTTCCCTGCCATGGTCAGCA	0.498													C|||	517	0.103235	0.0499	0.098	5008	,	,		18332	0.1429		0.1213	False		,,,				2504	0.1196				p.M39I		Atlas-SNP	.											OR8J3,NS,carcinoma,0,2	OR8J3	112	2	2	Substitution - Missense(2)	stomach(1)|pancreas(1)	c.G117A						scavenged	.	C	ILE/MET	239,4163	140.4+/-175.9	7,225,1969	136	132	134		117	1.3	0	11	dbSNP_129	134	1007,7585	216.6+/-255.6	54,899,3343	no	missense	OR8J3	NM_001004064.1	10	61,1124,5312	TT,TC,CC		11.7202,5.4294,9.589	benign	39/316	55905078	1246,11748	2201	4296	6497	SO:0001583	missense	81168	exon1			CCCTGCCATGGTC		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.117G>A	11.37:g.55905078C>T	ENSP00000301529:p.Met39Ile	Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	168	87	0.517857	NM_001004064	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	253	0.11584249084249085	32	0.06504065040650407	33	0.09116022099447514	88	0.15384615384615385	100	0.13192612137203166	C	10.71	1.426952	0.25726	0.054294	0.117202	ENSG00000167822	ENST00000301529	T	0.00524	6.82	3.26	1.31	0.21738	.	1.026030	0.07741	N	0.946937	T	0.00012	0.0000	N	0.05467	-0.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	9	0.59425	D	0.04	.	4.5064	0.11891	0.0:0.5487:0.162:0.2893	.	39	Q8NGG0	OR8J3_HUMAN	I	39	ENSP00000301529:M39I	ENSP00000301529:M39I	M	-	3	0	OR8J3	55661654	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.509000	0.06336	0.065000	0.16485	0.289000	0.19496	ATG	C|0.901;T|0.099	0.099	strong		0.498	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		T	55905078	C	T	55905078	3	4	23	1	0	0	0	0	1	0	0	0	11242	594	21	2	832	2	OR8J3	11	55905078	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	250	55905078	79101438	2769	19225										
OR8K5	219453	hgsc.bcm.edu	37	chr11	55927584	55927584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgacagtagaattaccaagAtcaacaaaagccaaatgtct	6	8	2	3	rs141612231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55927584A>T	ENST00000313447.1	-	1	209	c.210T>A	c.(208-210)gaT>gaA	p.D70E		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTACCAAGATCAACAAAAG	0.403													A|||	5	0.000998403	0.0015	0.0	5008	,	,		21723	0.0		0.003	False		,,,				2504	0.0				p.D70E		Atlas-SNP	.											.	OR8K5	82	.	0			c.T210A						PASS	.	A	GLU/ASP	4,4398	8.1+/-20.4	0,4,2197	109	108	109		210	-1.8	1	11	dbSNP_134	109	44,8548	29.6+/-80.5	0,44,4252	yes	missense	OR8K5	NM_001004058.2	45	0,48,6449	TT,TA,AA		0.5121,0.0909,0.3694	probably-damaging	70/308	55927584	48,12946	2201	4296	6497	SO:0001583	missense	219453	exon1			ACCAAGATCAACA	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.210T>A	11.37:g.55927584A>T	ENSP00000323853:p.Asp70Glu	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	193	99	0.512953	NM_001004058	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	15.04	2.715189	0.48622	9.09E-4	0.005121	ENSG00000181752	ENST00000313447	T	0.01152	5.26	3.87	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	L	0.43701	1.375	0.23260	N	0.998023	D	0.89917	1.0	D	0.83275	0.996	T	0.45381	-0.9265	9	0.87932	D	0	.	4.7748	0.13173	0.4794:0.0:0.3737:0.1469	.	70	Q8NH50	OR8K5_HUMAN	E	70	ENSP00000323853:D70E	ENSP00000323853:D70E	D	-	3	2	OR8K5	55684160	0.000000	0.05858	0.991000	0.47740	0.512000	0.34134	-1.621000	0.02044	-0.081000	0.12662	-0.377000	0.06932	GAT	A|0.998;T|0.002	0.002	strong		0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		T	55927584	A	T	55927584	3	4	23	1	0	0	0	0	1	0	0	0	11245	330	12	5	716	5	OR8K5	11	55927584	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22506	55927584	79078932	2770	19226										
OR5J2	282775	hgsc.bcm.edu	37	chr11	55944474	55944474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccgctatgtggccattgtGagtcccttgctttacactgt	10	11	0	1	rs4489763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55944474G>A	ENST00000312298.1	+	1	381	c.381G>A	c.(379-381)gtG>gtA	p.V127V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V127V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGCCATTGTGAGTCCCTTGC	0.453													.|||	494	0.0986422	0.0499	0.0994	5008	,	,		23210	0.125		0.1163	False		,,,				2504	0.1186				p.V127V		Atlas-SNP	.											OR5J2,NS,carcinoma,0,1	OR5J2	98	1	1	Substitution - coding silent(1)	stomach(1)	c.G381A						PASS	.	G		239,4163	140.4+/-175.9	7,225,1969	159	144	149		381	-9.2	0	11	dbSNP_111	149	999,7593	215.5+/-254.8	53,893,3350	no	coding-synonymous	OR5J2	NM_001005492.1		60,1118,5319	AA,AG,GG		11.6271,5.4294,9.5275		127/313	55944474	1238,11756	2201	4296	6497	SO:0001819	synonymous_variant	282775	exon1			CATTGTGAGTCCC	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.381G>A	11.37:g.55944474G>A		Somatic	498	1	0.00200803		WXS	Illumina HiSeq	Phase_I	443	181	0.408578	NM_001005492	Q6IEU5	Silent	SNP	ENST00000312298.1	37	CCDS31522.1																																																																																			G|0.903;A|0.097	0.097	strong		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		A	55944474	G	A	55944474	2	1	23	1	0	0	0	0	0	0	0	1	11165	1277	45	2		2	OR5J2	11	55944474	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16890	55944474	79062042	2771	19227										
OR5T2	219464	hgsc.bcm.edu	37	chr11	55999950	55999950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcccacaaagtagaagaGtagaagctggtttgtgtgag	14	5	0	5	rs12221615	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:55999950G>C	ENST00000313264.4	-	1	787	c.712C>G	c.(712-714)Ctc>Gtc	p.L238V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	238			L -> V (in dbSNP:rs12221615).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L238V(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAGTAGAAGAGTAGAAGCTGG	0.433													g|||	507	0.101238	0.059	0.1009	5008	,	,		21064	0.125		0.1173	False		,,,				2504	0.1176				p.L238V		Atlas-SNP	.											OR5T2,right_upper_lobe,carcinoma,+2,3	OR5T2	107	3	1	Substitution - Missense(1)	stomach(1)	c.C712G						PASS	.	G	VAL/LEU	272,4130	152.5+/-186.2	9,254,1938	124	117	119		712	1.9	0.1	11	dbSNP_120	119	1003,7589	216.0+/-255.2	54,895,3347	yes	missense	OR5T2	NM_001004746.1	32	63,1149,5285	CC,CG,GG		11.6736,6.179,9.8122	benign	238/360	55999950	1275,11719	2201	4296	6497	SO:0001583	missense	219464	exon1			AGAAGAGTAGAAG	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.712C>G	11.37:g.55999950G>C	ENSP00000323688:p.Leu238Val	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	223	101	0.452915	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	238	0.10897435897435898	34	0.06910569105691057	33	0.09116022099447514	74	0.12937062937062938	97	0.1279683377308707	G	8.300	0.819727	0.16607	0.06179	0.116736	ENSG00000181718	ENST00000313264	T	0.00164	8.64	5.07	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.201650	0.24403	N	0.038822	T	0.00012	0.0000	N	0.11818	0.18	0.80722	P	0.0	B	0.30068	0.267	B	0.37888	0.26	T	0.20739	-1.0266	9	0.38643	T	0.18	.	9.6981	0.40169	0.0769:0.4016:0.5216:0.0	rs12221615;rs52834703;rs12221615	238	Q8NGG2	OR5T2_HUMAN	V	238	ENSP00000323688:L238V	ENSP00000323688:L238V	L	-	1	0	OR5T2	55756526	0.000000	0.05858	0.067000	0.19924	0.132000	0.20833	-0.189000	0.09629	0.633000	0.30452	0.478000	0.44815	CTC	G|0.901;C|0.099	0.099	strong		0.433	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		C	55999950	G	C	55999950	3	2	23	1	0	0	0	0	1	0	0	0	11182	1029	36	4	366	4	OR5T2	11	55999950	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	55476	55999950	79006566	2772	19228										
OR5T2	219464	hgsc.bcm.edu	37	chr11	56000451	56000451	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgaagaggtagattgctaGaaacaggaagaagaagatag	14	2	0	7	rs11227598	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56000451G>A	ENST00000313264.4	-	1	286	c.211C>T	c.(211-213)Cta>Tta	p.L71L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L71L(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGATTGCTAGAAACAGGAAG	0.388													g|||	511	0.102037	0.062	0.1009	5008	,	,		21549	0.125		0.1173	False		,,,				2504	0.1176				p.L71L		Atlas-SNP	.											OR5T2,colon,carcinoma,0,2	OR5T2	107	2	1	Substitution - coding silent(1)	stomach(1)	c.C211T						PASS	.	G		277,4125	152.5+/-186.2	9,259,1933	72	65	67		211	-0.9	0	11	dbSNP_120	67	998,7594	214.3+/-254.0	54,890,3352	no	coding-synonymous	OR5T2	NM_001004746.1		63,1149,5285	AA,AG,GG		11.6155,6.2926,9.8122		71/360	56000451	1275,11719	2201	4296	6497	SO:0001819	synonymous_variant	219464	exon1			TTGCTAGAAACAG	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.211C>T	11.37:g.56000451G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	82	34	0.414634	NM_001004746	B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																			G|0.901;A|0.099	0.099	strong		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		A	56000451	G	A	56000451	2	1	23	1	0	0	0	0	0	0	0	1	11182	933	33	2		2	OR5T2	11	56000451	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	501	56000451	79006065	2773	19229										
OR5T2	219464	hgsc.bcm.edu	37	chr11	56000471	56000471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaacaggaagaagaagataGtctgcagttcaagattgtct	11	5	3	4	rs11227599	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56000471G>A	ENST00000313264.4	-	1	266	c.191C>T	c.(190-192)aCt>aTt	p.T64I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	64			T -> I (in dbSNP:rs11227599).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T64I(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAAGAAGATAGTCTGCAGTTC	0.393													a|||	865	0.172724	0.1868	0.1585	5008	,	,		21467	0.124		0.2117	False		,,,				2504	0.1738				p.T64I		Atlas-SNP	.											OR5T2,NS,carcinoma,0,1	OR5T2	107	1	1	Substitution - Missense(1)	stomach(1)	c.C191T						PASS	.	A	ILE/THR	801,3601	749.1+/-412.0	76,649,1476	72	64	67		191	3.6	0	11	dbSNP_120	67	1699,6893	737.2+/-407.0	177,1345,2774	yes	missense	OR5T2	NM_001004746.1	89	253,1994,4250	AA,AG,GG		19.7742,18.1963,19.2396	benign	64/360	56000471	2500,10494	2201	4296	6497	SO:0001583	missense	219464	exon1			AAGATAGTCTGCA	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.191C>T	11.37:g.56000471G>A	ENSP00000323688:p.Thr64Ile	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	102	47	0.460784	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	381	0.17445054945054944	87	0.17682926829268292	54	0.14917127071823205	74	0.12937062937062938	166	0.21899736147757257	A	2.652	-0.281757	0.05642	0.181963	0.197742	ENSG00000181718	ENST00000313264	T	0.00231	8.49	4.77	3.64	0.41730	.	0.464406	0.15753	N	0.246309	T	0.00012	0.0000	N	0.00985	-1.075	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.00414	-1.1754	9	0.05959	T	0.93	.	8.8572	0.35236	0.839:0.0:0.161:0.0	rs11227599;rs52813445;rs11227599	64	Q8NGG2	OR5T2_HUMAN	I	64	ENSP00000323688:T64I	ENSP00000323688:T64I	T	-	2	0	OR5T2	55757047	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.030000	0.13688	0.284000	0.22305	-1.324000	0.01287	ACT	G|0.820;A|0.180	0.180	strong		0.393	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		A	56000471	G	A	56000471	3	1	23	1	0	0	0	0	1	0	0	0	11182	1029	36	2	887	2	OR5T2	11	56000471	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20	56000471	79006045	2774	19230										
OR5T2	219464	hgsc.bcm.edu	37	chr11	56000600	56000600	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttcatattatgacaaaaaGaatgaacaacaccatgactc	5	8	1	4	rs3919907	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56000600G>T	ENST00000313264.4	-	1	137	c.62C>A	c.(61-63)tCt>tAt	p.S21Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	21			S -> Y (in dbSNP:rs3919907).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATGACAAAAAGAATGAACAAC	0.333													g|||	1050	0.209665	0.0265	0.2954	5008	,	,		19308	0.378		0.2286	False		,,,				2504	0.2035				p.S21Y		Atlas-SNP	.											OR5T2,NS,carcinoma,+1,1	OR5T2	107	1	0			c.C62A						PASS	.	G	TYR/SER	289,4113	156.6+/-189.7	9,271,1921	113	106	108		62	-0.1	0	11	dbSNP_108	108	1897,6695	332.9+/-320.3	219,1459,2618	yes	missense	OR5T2	NM_001004746.1	144	228,1730,4539	TT,TG,GG		22.0787,6.5652,16.8231	benign	21/360	56000600	2186,10808	2201	4296	6497	SO:0001583	missense	219464	exon1			CAAAAAGAATGAA	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.62C>A	11.37:g.56000600G>T	ENSP00000323688:p.Ser21Tyr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	93	36	0.387097	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	511	0.23397435897435898	20	0.04065040650406504	119	0.3287292817679558	203	0.3548951048951049	169	0.22295514511873352	G	1.222	-0.626727	0.03610	0.065652	0.220787	ENSG00000181718	ENST00000313264	T	0.00666	5.91	0.848	-0.135	0.13477	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.18863	0.031	B	0.06405	0.002	T	0.39761	-0.9598	8	0.87932	D	0	.	3.2208	0.06715	0.317:0.0:0.683:0.0	rs3919907;rs17705089;rs52830662;rs3919907	21	Q8NGG2	OR5T2_HUMAN	Y	21	ENSP00000323688:S21Y	ENSP00000323688:S21Y	S	-	2	0	OR5T2	55757176	0.540000	0.26410	0.001000	0.08648	0.065000	0.16274	-0.009000	0.12765	-0.002000	0.14469	0.271000	0.19318	TCT	G|0.810;T|0.190	0.190	strong		0.333	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		T	56000600	G	T	56000600	3	4	23	1	0	0	0	0	1	0	0	0	11182	942	33	4	1016	4	OR5T2	11	56000600	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	129	56000600	79005916	2775	19231										
OR9G1	390174	hgsc.bcm.edu	37	chr11	56467945	56467945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatgcagctgggcctcttcGtggtgttcctgggcgtgtac	15	10	1	0	rs36184181|rs397849604	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56467945G>T	ENST00000312153.1	+	1	82	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GGGCCTCTTCGTGGTGTTCCT	0.502													G|||	4	0.000798722	0.0	0.0	5008	,	,		18770	0.001		0.0	False		,,,				2504	0.0031				p.V28L		Atlas-SNP	.											.	.	.	.	0			c.G82T						PASS	.	G	LEU/VAL	497,3905		0,497,1704	164	141	149		82	2.6	0	11	dbSNP_126	149	2528,6064		0,2528,1768	yes	missense	OR9G1	NM_001005213.1	32	0,3025,3472	TT,TG,GG		29.4227,11.2903,23.28	benign	28/306	56467945	3025,9969	2201	4296	6497	SO:0001583	missense	504191	exon1			CTCTTCGTGGTGT	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.82G>T	11.37:g.56467945G>T	ENSP00000309012:p.Val28Leu	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	192	49	0.255208	NM_001013358	Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	773	0.35393772893772896	65	0.13211382113821138	162	0.44751381215469616	244	0.42657342657342656	302	0.39841688654353563	G	0.022	-1.408655	0.01155	0.112903	0.294227	ENSG00000174914	ENST00000312153	T	0.00448	7.38	4.52	2.63	0.31362	.	0.289314	0.24649	N	0.036723	T	0.00012	0.0000	N	0.11789	0.175	0.09310	N	1	B	0.14012	0.009	B	0.19148	0.024	T	0.31916	-0.9926	10	0.07482	T	0.82	-9.336	9.4573	0.38762	0.2451:0.0:0.7549:0.0	rs36184181	28	Q8NH87	OR9G1_HUMAN	L	28	ENSP00000309012:V28L	ENSP00000309012:V28L	V	+	1	0	OR9G1	56224521	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-0.943000	0.03917	0.621000	0.30232	0.573000	0.79308	GTG	G|0.646;T|0.354	0.354	strong		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56467945	G	T	56467945	3	4	23	1	0	0	0	0	1	0	0	0	11250	1145	40	4	84	4	OR9G1	11	56467945	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	467345	56467945	78538571	2776	19232										
OR9G1	390174	hgsc.bcm.edu	37	chr11	56468225	56468225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgccgtggcttatgaccGctacgtggccatctccaagc	12	14	1	1	rs148651508	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56468225G>A	ENST00000312153.1	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121P(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTTATGACCGCTACGTGGCC	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		17980	0.0		0.0	False		,,,				2504	0.0051				p.R121H		Atlas-SNP	.											OR9G1,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	lung(1)	c.G362A						scavenged	.	G	HIS/ARG	6,4396	4.2+/-10.8	0,6,2195	134	124	127		362	0.5	0.7	11	dbSNP_134	127	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR9G1	NM_001005213.1	29	0,11,6486	AA,AG,GG		0.0582,0.1363,0.0847	benign	121/306	56468225	11,12983	2201	4296	6497	SO:0001583	missense	504191	exon1			ATGACCGCTACGT	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.362G>A	11.37:g.56468225G>A	ENSP00000309012:p.Arg121His	Somatic	289	2	0.00692042		WXS	Illumina HiSeq	Phase_I	298	76	0.255034	NM_001013358	Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114336	0.20795	0.001363	5.82E-4	ENSG00000174914	ENST00000312153	T	0.77489	-1.1	4.54	0.508	0.16972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.76147	0.3947	M	0.88842	2.985	0.33993	D	0.649336	B	0.28026	0.198	B	0.26969	0.075	T	0.74272	-0.3719	10	0.72032	D	0.01	-11.8484	5.9681	0.19336	0.2233:0.0:0.6439:0.1329	.	121	Q8NH87	OR9G1_HUMAN	H	121	ENSP00000309012:R121H	ENSP00000309012:R121H	R	+	2	0	OR9G1	56224801	0.996000	0.38824	0.684000	0.30055	0.041000	0.13682	2.226000	0.42963	0.004000	0.14682	-0.203000	0.12734	CGC	G|1.000;A|0.000	0.000	weak		0.527	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		A	56468225	G	A	56468225	3	1	23	1	0	0	0	0	1	0	0	0	11250	1087	38	1	364	1	OR9G1	11	56468225	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	280	56468225	78538291	2777	19233										
OR9G1	390174	hgsc.bcm.edu	37	chr11	56468440	56468440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcctgtggcgagaagggcGgctataaaattatgatgtac	14	6	0	2	rs397849038|rs12421330		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56468440G>T	ENST00000312153.1	+	1	577	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CGAGAAGGGCGGCTATAAAAT	0.478																																					p.G193C		Atlas-SNP	.											.	.	.	.	0			c.G577T						PASS	.						117	118	118					11																	56468440		2201	4296	6497	SO:0001583	missense	504191	exon1			AAGGGCGGCTATA	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.577G>T	11.37:g.56468440G>T	ENSP00000309012:p.Gly193Cys	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	146	31	0.212329	NM_001013358	Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275107	0.10403	.	.	ENSG00000174914	ENST00000312153	T	0.00091	8.74	4.52	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.649761	0.14366	N	0.324095	T	0.00241	0.0007	L	0.28400	0.85	0.09310	N	1	P	0.46859	0.885	P	0.62184	0.899	T	0.56208	-0.8017	10	0.72032	D	0.01	-12.3577	8.9994	0.36072	0.2548:0.0:0.7452:0.0	rs12421330	193	Q8NH87	OR9G1_HUMAN	C	193	ENSP00000309012:G193C	ENSP00000309012:G193C	G	+	1	0	OR9G1	56225016	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.080000	0.03407	0.630000	0.30394	-1.202000	0.01658	GGC	G|0.625;T|0.375	0.375	strong		0.478	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56468440	G	T	56468440	3	4	23	1	0	0	0	0	1	0	0	0	11250	1116	39	4	579	4	OR9G1	11	56468440	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	215	56468440	78538076	2778	19234										
OR9G4	283189	hgsc.bcm.edu	37	chr11	56511160	56511160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcatcagaaacactccaAatagaatcggctgccactgg	9	11	1	3	rs11228763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:56511160A>G	ENST00000302957.3	-	1	127	c.128T>C	c.(127-129)tTt>tCt	p.F43S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	43			F -> S (in dbSNP:rs11228763).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F43S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAACACTCCAAATAGAATCGG	0.438													A|||	504	0.100639	0.084	0.0994	5008	,	,		18457	0.119		0.1004	False		,,,				2504	0.1053				p.F43S		Atlas-SNP	.											OR9G4,NS,carcinoma,0,1	OR9G4	73	1	1	Substitution - Missense(1)	stomach(1)	c.T128C						PASS	.	A	SER/PHE	403,3999	199.4+/-223.0	16,371,1814	76	70	72		128	4	0.9	11	dbSNP_120	72	729,7863	177.5+/-227.1	34,661,3601	yes	missense	OR9G4	NM_001005284.1	155	50,1032,5415	GG,GA,AA		8.4846,9.1549,8.7117	probably-damaging	43/328	56511160	1132,11862	2201	4296	6497	SO:0001583	missense	283189	exon1			ACTCCAAATAGAA	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.128T>C	11.37:g.56511160A>G	ENSP00000307515:p.Phe43Ser	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	49	18	0.367347	NM_001005284	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	234	0.10714285714285714	47	0.09552845528455285	34	0.09392265193370165	69	0.12062937062937062	84	0.11081794195250659	A	11.63	1.696822	0.30142	0.091549	0.084846	ENSG00000172457	ENST00000302957	T	0.04551	3.6	5.16	4.03	0.46877	.	0.000000	0.40385	N	0.001114	T	0.00271	0.0008	M	0.81497	2.545	0.48395	P	3.5799999999996945E-4	D	0.76494	0.999	D	0.80764	0.994	T	0.02070	-1.1219	9	0.87932	D	0	-25.4032	10.0006	0.41927	0.9198:0.0:0.0802:0.0	rs11228763;rs11228763	43	Q8NGQ1	OR9G4_HUMAN	S	43	ENSP00000307515:F43S	ENSP00000307515:F43S	F	-	2	0	OR9G4	56267736	0.010000	0.17322	0.852000	0.33557	0.080000	0.17528	1.752000	0.38349	0.980000	0.38523	0.448000	0.29417	TTT	A|0.905;G|0.095	0.095	strong		0.438	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		G	56511160	A	G	56511160	3	3	23	1	0	0	0	0	1	0	0	0	11251	14	1	2	858	2	OR9G4	11	56511160	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	42720	56511160	78495356	2779	19235										
P2RX3	5024	hgsc.bcm.edu	37	chr11	57137371	57137371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcaggtgaatgagactacGctgaaaatcgcggctttgac	12	9	0	4	rs2276039	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:57137371G>A	ENST00000263314.2	+	12	1129	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	365					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ATGAGACTACGCTGAAAATCG	0.552													G|||	2060	0.411342	0.0756	0.4813	5008	,	,		20321	0.6319		0.3847	False		,,,				2504	0.6155				p.T365T		Atlas-SNP	.											P2RX3,NS,adenoma,0,1	P2RX3	55	1	0			c.G1095A						PASS	.	G		572,3830	250.0+/-257.2	43,486,1672	106	88	94		1095	-7.2	0	11	dbSNP_100	94	3200,5392	477.5+/-369.7	605,1990,1701	yes	coding-synonymous	P2RX3	NM_002559.3		648,2476,3373	AA,AG,GG		37.2439,12.9941,29.0288		365/398	57137371	3772,9222	2201	4296	6497	SO:0001819	synonymous_variant	5024	exon12			GACTACGCTGAAA	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1095G>A	11.37:g.57137371G>A		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	170	69	0.405882	NM_002559	Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	CCDS7953.1																																																																																			G|0.664;A|0.336	0.336	strong		0.552	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57137371	G	A	57137371	2	1	23	1	0	0	0	0	0	0	0	1	11341	1074	38	1		1	P2RX3	11	57137371	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	626211	57137371	77869145	2780	19236										
P2RX3	5024	hgsc.bcm.edu	37	chr11	57137424	57137424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccagcgaccagaccacagCggagaagcagtccaccgatt	10	16	0	2	rs2276038	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:57137424C>T	ENST00000263314.2	+	12	1182	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	383			A -> V (in dbSNP:rs2276038). {ECO:0000269|Ref.2}.		behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGACCACAGCGGAGAAGCAG	0.587													C|||	2163	0.431909	0.0696	0.4914	5008	,	,		19306	0.7163		0.3926	False		,,,				2504	0.6268				p.A383V		Atlas-SNP	.											.	P2RX3	55	.	0			c.C1148T						PASS	.	C	VAL/ALA	546,3856	241.8+/-252.1	42,462,1697	102	87	92		1148	0.1	0.1	11	dbSNP_100	92	3319,5273	490.5+/-372.9	657,2005,1634	yes	missense	P2RX3	NM_002559.3	64	699,2467,3331	TT,TC,CC		38.629,12.4035,29.7445	benign	383/398	57137424	3865,9129	2201	4296	6497	SO:0001583	missense	5024	exon12			CCACAGCGGAGAA	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1148C>T	11.37:g.57137424C>T	ENSP00000263314:p.Ala383Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	135	59	0.437037	NM_002559	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	905	0.4143772893772894	42	0.08536585365853659	160	0.4419889502762431	397	0.6940559440559441	306	0.40369393139841686	C	5.453	0.268630	0.10349	0.124035	0.38629	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04275	3.66	5.4	0.0746	0.14396	.	0.735097	0.13141	N	0.410610	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06232	-1.0838	9	0.28530	T	0.3	-15.7114	2.1232	0.03731	0.4489:0.3135:0.0883:0.1493	rs2276038;rs17574631;rs2276038	383	P56373	P2RX3_HUMAN	V	382;383	ENSP00000263314:A383V	ENSP00000263314:A383V	A	+	2	0	P2RX3	56894000	0.879000	0.30193	0.065000	0.19835	0.101000	0.19017	0.300000	0.19156	-0.241000	0.09681	-0.457000	0.05445	GCG	C|0.650;T|0.349	0.349	strong		0.587	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		T	57137424	C	T	57137424	3	4	23	1	0	0	0	0	1	0	0	0	11341	768	27	1	1194	1	P2RX3	11	57137424	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	53	57137424	77869092	2781	19237										
OR6Q1	219952	hgsc.bcm.edu	37	chr11	57798723	57798723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagaatatctcttatgctgAttgcctatcccagctcttca	5	12	3	2	rs921135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:57798723A>G	ENST00000302622.3	+	1	322	c.299A>G	c.(298-300)gAt>gGt	p.D100G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	100				D -> G (in Ref. 1; BAC05958, 3; AAI51148 and 4; AAK95094). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCTTATGCTGATTGCCTATCC	0.478													G|||	2044	0.408147	0.3238	0.2651	5008	,	,		22105	0.6825		0.2913	False		,,,				2504	0.4611				p.D100G		Atlas-SNP	.											.	OR6Q1	58	.	0			c.A299G						PASS	.	G	GLY/ASP	1482,2920	677.5+/-403.4	247,988,966	173	163	166		299	3.8	1	11	dbSNP_86	166	2565,6027	690.1+/-404.4	395,1775,2126	yes	missense	OR6Q1	NM_001005186.2	94	642,2763,3092	GG,GA,AA		29.8534,33.6665,31.1451	benign	100/318	57798723	4047,8947	2201	4296	6497	SO:0001583	missense	219952	exon1			ATGCTGATTGCCT	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.299A>G	11.37:g.57798723A>G	ENSP00000307734:p.Asp100Gly	Somatic	441	2	0.00453515		WXS	Illumina HiSeq	Phase_I	390	197	0.505128	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	840	0.38461538461538464	154	0.3130081300813008	96	0.26519337016574585	376	0.6573426573426573	214	0.28232189973614774	G	0.593	-0.832308	0.02713	0.336665	0.298534	ENSG00000172381	ENST00000302622	T	0.01172	5.23	4.76	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001437	T	0.00012	0.0000	N	0.00080	-2.225	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	9	0.02654	T	1	.	7.9273	0.29883	0.0878:0.2843:0.6279:0.0	rs921135;rs52804731;rs57644368;rs921135	100	Q8NGQ2	OR6Q1_HUMAN	G	100	ENSP00000307734:D100G	ENSP00000307734:D100G	D	+	2	0	OR6Q1	57555299	0.027000	0.19231	0.992000	0.48379	0.888000	0.51559	0.808000	0.27154	1.036000	0.39998	-0.136000	0.14681	GAT	A|0.655;G|0.345	0.345	strong		0.478	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		G	57798723	A	G	57798723	3	3	23	1	0	0	0	0	1	0	0	0	11208	333	12	2	301	2	OR6Q1	11	57798723	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	661299	57798723	77207793	2782	19238										
OR6Q1	219952	hgsc.bcm.edu	37	chr11	57798942	57798942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtctcagctaacattttAtggcccaaatgtcattgacc	6	11	2	1	rs2513726	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:57798942A>G	ENST00000302622.3	+	1	541	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	173				Y -> C (in Ref. 1; BAC05958, 3; AAI51148 and 4; AAK95094). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTAACATTTTATGGCCCAAAT	0.522													G|||	2044	0.408147	0.3238	0.2651	5008	,	,		23219	0.6825		0.2913	False		,,,				2504	0.4611				p.Y173C		Atlas-SNP	.											.	OR6Q1	58	.	0			c.A518G						PASS	.	G	CYS/TYR	1482,2920	677.5+/-403.4	247,988,966	228	203	212		518	5	1	11	dbSNP_100	212	2565,6027	690.1+/-404.4	395,1775,2126	yes	missense	OR6Q1	NM_001005186.2	194	642,2763,3092	GG,GA,AA		29.8534,33.6665,31.1451	benign	173/318	57798942	4047,8947	2201	4296	6497	SO:0001583	missense	219952	exon1			CATTTTATGGCCC	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.518A>G	11.37:g.57798942A>G	ENSP00000307734:p.Tyr173Cys	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	245	103	0.420408	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	840	0.38461538461538464	154	0.3130081300813008	96	0.26519337016574585	376	0.6573426573426573	214	0.28232189973614774	G	1.599	-0.527015	0.04141	0.336665	0.298534	ENSG00000172381	ENST00000302622	T	0.00020	9.05	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	N	0.000822	T	0.00012	0.0000	N	0.00006	-3.245	0.44162	P	0.003037999999999985	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	9	0.02654	T	1	.	9.7534	0.40490	0.1681:0.0:0.8319:0.0	rs2513726;rs57387147;rs2513726	173	Q8NGQ2	OR6Q1_HUMAN	C	173	ENSP00000307734:Y173C	ENSP00000307734:Y173C	Y	+	2	0	OR6Q1	57555518	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.148000	0.64857	1.136000	0.42199	-0.131000	0.14894	TAT	A|0.653;G|0.347	0.347	strong		0.522	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		G	57798942	A	G	57798942	3	3	23	1	0	0	0	0	1	0	0	0	11208	449	16	2	520	2	OR6Q1	11	57798942	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	219	57798942	77207574	2783	19239										
OR9Q1	219956	hgsc.bcm.edu	37	chr11	57947264	57947264	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcgactgctacctcttggcCctcatggcctatgaccgcta	8	15	2	1	rs11229273	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:57947264C>G	ENST00000335397.3	+	3	664	c.348C>G	c.(346-348)gcC>gcG	p.A116A		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCTCTTGGCCCTCATGGCCT	0.557													C|||	1679	0.335264	0.093	0.2406	5008	,	,		22617	0.5754		0.2684	False		,,,				2504	0.5511				p.A116A		Atlas-SNP	.											.	OR9Q1	60	.	0			c.C348G						PASS	.	C		472,3930	223.3+/-239.8	28,416,1757	120	96	104		348	-2.9	0.9	11	dbSNP_120	104	2372,6220	395.6+/-345.1	319,1734,2243	no	coding-synonymous	OR9Q1	NM_001005212.3		347,2150,4000	GG,GC,CC		27.6071,10.7224,21.887		116/311	57947264	2844,10150	2201	4296	6497	SO:0001819	synonymous_variant	219956	exon3			CTTGGCCCTCATG	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.348C>G	11.37:g.57947264C>G		Somatic	364	1	0.00274725		WXS	Illumina HiSeq	Phase_I	354	351	0.991525	NM_001005212	Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	CCDS31543.1																																																																																			C|0.747;G|0.253	0.253	strong		0.557	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		G	57947264	C	G	57947264	2	3	23	1	0	0	0	0	0	0	0	1	11255	610	22	4		4	OR9Q1	11	57947264	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	148322	57947264	77059252	2784	19240										
OR5AN1	390195	hgsc.bcm.edu	37	chr11	59132798	59132798	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcccatgttaaatcccttGatttacagtttgaggaacaa	6	8	0	2	rs7941190	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:59132798G>C	ENST00000313940.2	+	1	914	c.867G>C	c.(865-867)ttG>ttC	p.L289F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	289			L -> F (in dbSNP:rs7941190). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TAAATCCCTTGATTTACAGTT	0.378													G|||	3372	0.673323	0.5061	0.7363	5008	,	,		21663	0.744		0.7227	False		,,,				2504	0.7311				p.L289F		Atlas-SNP	.											.	OR5AN1	49	.	0			c.G867C						PASS	.	G	PHE/LEU	2340,2062	605.2+/-390.5	629,1082,490	73	70	71		867	1.4	0.8	11	dbSNP_116	71	5971,2619	682.4+/-403.8	2075,1821,399	yes	missense	OR5AN1	NM_001004729.1	22	2704,2903,889	CC,CG,GG		30.4889,46.8423,36.0299	probably-damaging	289/312	59132798	8311,4681	2201	4295	6496	SO:0001583	missense	390195	exon1			TCCCTTGATTTAC	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.867G>C	11.37:g.59132798G>C	ENSP00000320302:p.Leu289Phe	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	56	25	0.446429	NM_001004729	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	1452	0.6648351648351648	257	0.5223577235772358	256	0.7071823204419889	403	0.7045454545454546	536	0.7071240105540897	G	14.55	2.568337	0.45798	0.531577	0.695111	ENSG00000176495	ENST00000313940	T	0.38887	1.11	4.51	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001735	T	0.00012	0.0000	M	0.67517	2.055	0.42638	P	0.0065990000000000215	D	0.89917	1.0	D	0.91635	0.999	T	0.44406	-0.9330	9	0.62326	D	0.03	-19.1172	4.6162	0.12428	0.0866:0.4254:0.3431:0.145	rs7941190;rs52831590;rs7941190	289	Q8NGI8	O5AN1_HUMAN	F	289	ENSP00000320302:L289F	ENSP00000320302:L289F	L	+	3	2	OR5AN1	58889374	0.923000	0.31300	0.751000	0.31187	0.984000	0.73092	0.022000	0.13511	0.184000	0.20083	-0.140000	0.14226	TTG	G|0.358;C|0.642	0.642	strong		0.378	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		C	59132798	G	C	59132798	3	2	23	1	0	0	0	0	1	0	0	0	11143	1281	45	4	869	4	OR5AN1	11	59132798	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1185534	59132798	75873718	2785	19241										
PATL1	219988	hgsc.bcm.edu	37	chr11	59410479	59410479	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagatgatagagaaggagAgagaagggactcagtaagca	16	3	1	5	rs77793148	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:59410479A>T	ENST00000300146.9	-	16	2007	c.1923T>A	c.(1921-1923)tcT>tcA	p.S641S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	641	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGAGAAGGAGAGAGAAGGGAC	0.473													A|||	33	0.00658946	0.0008	0.0029	5008	,	,		20188	0.0		0.0239	False		,,,				2504	0.0061				p.S641S		Atlas-SNP	.											.	PATL1	92	.	0			c.T1923A						PASS	.	A		17,3945		0,17,1964	118	112	114		1923	-0.6	1	11	dbSNP_132	114	187,8113		2,183,3965	no	coding-synonymous	PATL1	NM_152716.2		2,200,5929	TT,TA,AA		2.253,0.4291,1.6637		641/771	59410479	204,12058	1981	4150	6131	SO:0001819	synonymous_variant	219988	exon16			AAGGAGAGAGAAG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1923T>A	11.37:g.59410479A>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	110	52	0.472727	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	CCDS44613.1																																																																																			A|0.995;G|0.000;T|0.005	0.005	strong		0.473	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		T	59410479	A	T	59410479	2	4	23	1	0	0	0	0	0	0	0	1	11475	291	11	5		5	PATL1	11	59410479	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	277681	59410479	75596037	2786	19242										
OR10V1	390201	hgsc.bcm.edu	37	chr11	59480759	59480759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgtctgcacaagccaggCgcatgactgcaggcatgtca	13	11	2	1	rs141649641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:59480759C>T	ENST00000307552.2	-	1	578	c.560G>A	c.(559-561)cGc>cAc	p.R187H	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ACAAGCCAGGCGCATGACTGC	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		23804	0.0		0.003	False		,,,				2504	0.0				p.R187H		Atlas-SNP	.											.	OR10V1	40	.	0			c.G560A						PASS	.	C	HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	89	94		560	0	1	11	dbSNP_134	94	31,8559	21.6+/-65.8	0,31,4264	yes	missense	OR10V1	NM_001005324.1	29	0,36,6460	TT,TC,CC		0.3609,0.1136,0.2771	benign	187/310	59480759	36,12956	2201	4295	6496	SO:0001583	missense	390201	exon1			GCCAGGCGCATGA	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.560G>A	11.37:g.59480759C>T	ENSP00000302199:p.Arg187His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	94	52	0.553191	NM_001005324	Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	CCDS31565.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.722	1.159943	0.21454	0.001136	0.003609	ENSG00000172289	ENST00000307552	T	0.00137	8.68	4.47	-0.0376	0.13883	GPCR, rhodopsin-like superfamily (1);	0.258733	0.25869	N	0.027762	T	0.00109	0.0003	L	0.37800	1.135	0.24816	N	0.992619	B	0.31383	0.321	B	0.32149	0.141	T	0.28681	-1.0036	10	0.54805	T	0.06	.	5.0568	0.14537	0.142:0.5452:0.0:0.3128	.	187	Q8NGI7	O10V1_HUMAN	H	187	ENSP00000302199:R187H	ENSP00000302199:R187H	R	-	2	0	OR10V1	59237335	0.000000	0.05858	0.993000	0.49108	0.635000	0.38103	-1.103000	0.03329	-0.105000	0.12132	-0.545000	0.04230	CGC	C|0.998;T|0.002	0.002	strong		0.483	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		T	59480759	C	T	59480759	3	4	23	1	0	0	0	0	1	0	0	0	10920	768	27	1	373	1	OR10V1	11	59480759	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	70280	59480759	75525757	2787	19243										
TCN1	6947	hgsc.bcm.edu	37	chr11	59623433	59623433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggctgcagcgtttggattGctgaatgctccttgagaaat	13	7	0	2	rs1042613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:59623433G>A	ENST00000257264.3	-	6	950	c.846C>T	c.(844-846)agC>agT	p.S282S	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	282	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.S282S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTTTGGATTGCTGAATGCTC	0.433													a|||	1491	0.297724	0.5484	0.1556	5008	,	,		17327	0.1607		0.2266	False		,,,				2504	0.274				p.S282S		Atlas-SNP	.											TCN1,NS,carcinoma,0,1	TCN1	64	1	1	Substitution - coding silent(1)	stomach(1)	c.C846T						PASS	.			2036,2366	610.4+/-391.6	470,1096,635	129	130	130		846	2.2	0	11	dbSNP_86	130	1898,6692	727.3+/-406.6	211,1476,2608	no	coding-synonymous	TCN1	NM_001062.3		681,2572,3243	AA,AG,GG		22.0955,46.2517,30.2802		282/434	59623433	3934,9058	2201	4295	6496	SO:0001819	synonymous_variant	6947	exon6			TGGATTGCTGAAT	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.846C>T	11.37:g.59623433G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	180	86	0.477778	NM_001062	A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	CCDS7978.1																																																																																			G|0.704;A|0.296	0.296	strong		0.433	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		A	59623433	G	A	59623433	2	1	23	1	0	0	0	0	0	0	0	1	15703	1310	46	2		2	TCN1	11	59623433	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	142674	59623433	75383083	2788	19244										
MS4A6E	245802	hgsc.bcm.edu	37	chr11	60102507	60102507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctacaggcaaaagtcaaaGttattggggtaaatctaatt	9	5	3	0	rs2304933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:60102507G>T	ENST00000300182.4	+	1	204	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	47			V -> F (in dbSNP:rs2304933). {ECO:0000269|PubMed:11486273}.			integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AAAAGTCAAAGTTATTGGGGT	0.473													G|||	1291	0.257788	0.2262	0.4222	5008	,	,		19383	0.255		0.3111	False		,,,				2504	0.1319				p.V47F		Atlas-SNP	.											.	MS4A6E	22	.	0			c.G139T						PASS	.	G	PHE/VAL	1137,3269	405.8+/-333.6	146,845,1212	95	87	90		139	2.2	0.2	11	dbSNP_100	90	2890,5710	451.5+/-362.7	507,1876,1917	yes	missense	MS4A6E	NM_139249.2	50	653,2721,3129	TT,TG,GG		33.6047,25.8057,30.9626	possibly-damaging	47/148	60102507	4027,8979	2203	4300	6503	SO:0001583	missense	245802	exon1			GTCAAAGTTATTG	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.139G>T	11.37:g.60102507G>T	ENSP00000300182:p.Val47Phe	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	182	100	0.549451	NM_139249	Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	CCDS7984.1	649	0.29716117216117216	127	0.258130081300813	126	0.34806629834254144	149	0.26048951048951047	247	0.3258575197889182	G	9.946	1.218706	0.22373	0.258057	0.336047	ENSG00000166926	ENST00000300182	T	0.15017	2.46	2.23	2.23	0.28157	.	0.707310	0.13082	N	0.415235	T	0.00012	0.0000	L	0.44542	1.39	0.48696	P	3.0600000000002847E-4	D	0.67145	0.996	P	0.58970	0.849	T	0.46359	-0.9197	9	0.52906	T	0.07	.	7.8596	0.29501	0.0:0.0:1.0:0.0	rs2304933;rs17154793;rs52836443;rs59632781;rs2304933	47	Q96DS6	M4A6E_HUMAN	F	47	ENSP00000300182:V47F	ENSP00000300182:V47F	V	+	1	0	MS4A6E	59859083	0.021000	0.18746	0.234000	0.24042	0.295000	0.27426	0.209000	0.17435	1.226000	0.43582	0.305000	0.20034	GTT	G|0.705;T|0.295	0.295	strong		0.473	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			T	60102507	G	T	60102507	3	4	23	1	0	0	0	0	1	0	0	0	9865	1029	36	4	141	4	MS4A6E	11	60102507	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	479074	60102507	74904009	2789	19245										
MS4A14	84689	hgsc.bcm.edu	37	chr11	60183159	60183159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagcaaagtatccttccaTctcccaaattttcagaggaa	5	10	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:60183159T>C	ENST00000300187.6	+	5	995	c.718T>C	c.(718-720)Tct>Cct	p.S240P	MS4A14_ENST00000395005.2_Missense_Mutation_p.S223P|MS4A14_ENST00000531783.1_Missense_Mutation_p.S273P|MS4A14_ENST00000531787.1_Missense_Mutation_p.S128P|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	240						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATCCTTCCATCTCCCAAATT	0.388																																					p.S273P		Atlas-SNP	.											MS4A14,NS,carcinoma,0,1	MS4A14	120	1	0			c.T817C						scavenged	.						79	78	79					11																	60183159		2203	4299	6502	SO:0001583	missense	84689	exon6			CTTCCATCTCCCA	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.718T>C	11.37:g.60183159T>C	ENSP00000300187:p.Ser240Pro	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	203	5	0.0246305	NM_001261828	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	T	7.045	0.563257	0.13498	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36340	1.26;2.52;1.26;2.8	3.63	-3.34	0.04943	.	10.627900	0.00166	N	0.000000	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.06643	-1.0815	10	0.35671	T	0.21	1.8289	0.1354	0.00078	0.3048:0.236:0.1501:0.3091	.	223;240	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	P	128;240;223;273	ENSP00000437222:S128P;ENSP00000300187:S240P;ENSP00000378453:S223P;ENSP00000433761:S273P	ENSP00000300187:S240P	S	+	1	0	MS4A14	59939735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.159000	0.03150	-0.750000	0.04740	-1.313000	0.01306	TCT	.	.	none		0.388	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60183159	T	C	60183159	3	2	23	1	0	0	0	0	1	0	0	0	9858	1435	50	2	736	2	MS4A14	11	60183159	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	80652	60183159	74823357	2790	19246										
MS4A5	64232	hgsc.bcm.edu	37	chr11	60197299	60197299	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagaaaaatgaaaatcttagGggtaagtaagacttgcccct	9	6	1	3	rs34169848	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:60197299G>A	ENST00000300190.2	+	1	238	c.152G>A	c.(151-153)gGg>gAg	p.G51E	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	51						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						AAAATCTTAGGGGTAAGTAAG	0.403													G|||	80	0.0159744	0.0008	0.0259	5008	,	,		19383	0.0		0.0507	False		,,,				2504	0.0102				p.G51E		Atlas-SNP	.											.	MS4A5	35	.	0			c.G152A						PASS	.	G	GLU/GLY	58,4348	53.6+/-89.4	0,58,2145	48	53	51		152	4.7	1	11	dbSNP_126	51	508,8092	142.2+/-198.4	10,488,3802	yes	missense-near-splice	MS4A5	NM_023945.2	98	10,546,5947	AA,AG,GG		5.907,1.3164,4.3518	probably-damaging	51/201	60197299	566,12440	2203	4300	6503	SO:0001630	splice_region_variant	64232	exon1			TCTTAGGGGTAAG	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.153+1G>A	11.37:g.60197299G>A		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	28	10	0.357143	NM_023945	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	41	0.018772893772893772	1	0.0020325203252032522	9	0.024861878453038673	0	0.0	31	0.040897097625329816	G	14.87	2.665848	0.47677	0.013164	0.05907	ENSG00000166930	ENST00000300190	T	0.10192	2.9	4.66	4.66	0.58398	.	0.118079	0.64402	D	0.000018	T	0.05456	0.0144	M	0.88105	2.93	0.39099	D	0.961245	D	0.89917	1.0	D	0.97110	1.0	T	0.03969	-1.0988	10	0.87932	D	0	-5.9109	13.2445	0.60016	0.0:0.0:1.0:0.0	rs34169848;rs34169848	51	Q9H3V2	MS4A5_HUMAN	E	51	ENSP00000300190:G51E	ENSP00000300190:G51E	G	+	2	0	MS4A5	59953875	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	3.950000	0.56676	2.578000	0.87016	0.467000	0.42956	GGG	G|0.965;A|0.035	0.035	strong		0.403	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		Missense_Mutation	A	60197299	G	A	60197299	5	1	23	1	0	0	0	0	0	0	1	0	9863	1246	43	2	154	2	MS4A5	11	60197299	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14140	60197299	74809217	2791	19247										
MS4A13	503497	hgsc.bcm.edu	37	chr11	60291413	60291413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aataagagtaacaaagtatcCgactcgatctggagtaagtt	9	6	1	1	rs6591595	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:60291413C>T	ENST00000378186.2	+	4	496	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MS4A13_ENST00000437058.2_Intron|MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Missense_Mutation_p.P58L	NM_001012417.2	NP_001012417.2	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	104						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						ACAAAGTATCCGACTCGATCT	0.289													C|||	3650	0.728834	0.6059	0.6859	5008	,	,		17015	0.7242		0.8787	False		,,,				2504	0.7761				p.P58L		Atlas-SNP	.											.	MS4A13	27	.	0			c.C173T						PASS	.	C	LEU/PRO,LEU/PRO	2822,1582	657.1+/-400.2	906,1010,286	84	86	85		173,173	1.3	0	11	dbSNP_116	85	7444,1138	760.4+/-407.6	3231,982,78	yes	missense,missense	MS4A13	NM_001012417.2,NM_001100909.1	98,98	4137,1992,364	TT,TC,CC		13.2603,35.9219,20.9456	probably-damaging,probably-damaging	58/153,58/113	60291413	10266,2720	2202	4291	6493	SO:0001583	missense	503497	exon4			AGTATCCGACTCG	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000378186.2:c.173C>T	11.37:g.60291413C>T	ENSP00000367428:p.Pro58Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_001100909	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000378186.2	37	CCDS31571.1	1622	0.7426739926739927	293	0.5955284552845529	253	0.6988950276243094	410	0.7167832167832168	666	0.8786279683377308	C	12.74	2.027638	0.35797	0.640781	0.867397	ENSG00000204979	ENST00000378186;ENST00000378185	T;T	0.23552	4.19;1.9	4.29	1.32	0.21799	.	1.169620	0.06367	N	0.712834	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	P;D	0.53745	0.953;0.962	B;P	0.48488	0.343;0.579	T	0.36261	-0.9755	9	0.66056	D	0.02	-4.2807	6.8654	0.24091	0.3573:0.4696:0.1731:0.0	rs6591595;rs59009772;rs6591595	58;58	Q5J8X5-2;Q5J8X5	.;M4A13_HUMAN	L	58	ENSP00000367428:P58L;ENSP00000367427:P58L	ENSP00000367427:P58L	P	+	2	0	MS4A13	60047989	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.211000	0.09332	0.316000	0.23135	-0.188000	0.12872	CCG	C|0.236;T|0.764	0.764	strong		0.289	MS4A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395408.1	NM_001012417		T	60291413	C	T	60291413	3	4	23	1	0	0	0	0	1	0	0	0	9857	652	23	1	179	1	MS4A13	11	60291413	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	94114	60291413	74715103	2792	19248										
CD6	923	hgsc.bcm.edu	37	chr11	60776186	60776186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcccggcttgcacttcaCgcccggccgcgggcctatcc	11	20	1	0	rs11230562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:60776186C>T	ENST00000313421.7	+	4	836	c.650C>T	c.(649-651)aCg>aTg	p.T217M	CD6_ENST00000344028.5_Missense_Mutation_p.T217M|CD6_ENST00000452451.2_Missense_Mutation_p.T217M|CD6_ENST00000352009.5_Missense_Mutation_p.T217M|CD6_ENST00000346437.4_Missense_Mutation_p.T217M|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	217	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.		T -> M (in dbSNP:rs11230562). {ECO:0000269|PubMed:17371992}.		cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TTGCACTTCACGCCCGGCCGC	0.692													C|||	442	0.0882588	0.0106	0.1239	5008	,	,		12755	0.0357		0.2386	False		,,,				2504	0.0675				p.T217M	Pancreas(169;904 2017 4767 38890 42505)	Atlas-SNP	.											.	CD6	122	.	0			c.C650T						PASS	.	C	MET/THR	238,4154		12,214,1970	26	22	24		650	0.7	0.2	11	dbSNP_120	24	2045,6541		256,1533,2504	yes	missense	CD6	NM_006725.3	81	268,1747,4474	TT,TC,CC		23.8178,5.4189,17.5913	probably-damaging	217/669	60776186	2283,10695	2196	4293	6489	SO:0001583	missense	923	exon4			ACTTCACGCCCGG		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.650C>T	11.37:g.60776186C>T	ENSP00000323280:p.Thr217Met	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	76	41	0.539474	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	252|252	0.11538461538461539|0.11538461538461539	8|8	0.016260162601626018|0.016260162601626018	52|52	0.143646408839779|0.143646408839779	12|12	0.02097902097902098|0.02097902097902098	180|180	0.23746701846965698|0.23746701846965698	C|C	12.39|12.39	1.924082|1.924082	0.34002|0.34002	0.054189|0.054189	0.238178|0.238178	ENSG00000013725|ENSG00000013725	ENST00000538611|ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	.|T;T;T;T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.08|4.08	0.667|0.667	0.17907|0.17907	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.634924	.|0.12753	.|N	.|0.441986	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	P|P	0.0|0.0	.|P;D;D;D;D	.|0.71674	.|0.709;0.998;0.994;0.997;0.996	.|B;P;P;P;P	.|0.61533	.|0.157;0.813;0.729;0.823;0.89	T|T	0.16748|0.16748	-1.0392|-1.0392	4|9	.|0.87932	.|D	.|0	.|.	8.527|8.527	0.33311|0.33311	0.2324:0.2692:0.4984:0.0|0.2324:0.2692:0.4984:0.0	rs11230562|rs11230562	.|217;217;217;217;217	.|E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.|.;.;.;CD6_HUMAN;.	C|M	61|217	.|ENSP00000344108:T217M;ENSP00000345566:T217M;ENSP00000323280:T217M;ENSP00000440055:T217M;ENSP00000410638:T217M;ENSP00000390676:T217M;ENSP00000340628:T217M	.|ENSP00000323280:T217M	R|T	+|+	1|2	0|0	CD6|CD6	60532762|60532762	0.000000|0.000000	0.05858|0.05858	0.175000|0.175000	0.22980|0.22980	0.321000|0.321000	0.28281|0.28281	-0.081000|-0.081000	0.11321|0.11321	0.343000|0.343000	0.23821|0.23821	0.561000|0.561000	0.74099|0.74099	CGC|ACG	C|0.852;T|0.148	0.148	strong		0.692	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		T	60776186	C	T	60776186	3	4	23	1	0	0	0	0	1	0	0	0	3028	536	19	1	664	1	CD6	11	60776186	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	484773	60776186	74230330	2793	19249										
VWCE	220001	hgsc.bcm.edu	37	chr11	61053895	61053895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaggaggttacacattcGtcaatgtctggaaagacaga	12	7	2	2	rs146572904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:61053895G>A	ENST00000335613.5	-	5	818	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	144	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTACACATTCGTCAATGTCTG	0.547													g|||	6	0.00119808	0.0	0.0014	5008	,	,		23016	0.0		0.005	False		,,,				2504	0.0				p.D144D		Atlas-SNP	.											.	VWCE	84	.	0			c.C432T						PASS	.	A		2,4404	4.2+/-10.8	0,2,2201	89	77	81		432	-10.6	0	11	dbSNP_134	81	22,8576	16.6+/-54.9	0,22,4277	no	coding-synonymous	VWCE	NM_152718.2		0,24,6478	AA,AG,GG		0.2559,0.0454,0.1846		144/956	61053895	24,12980	2203	4299	6502	SO:0001819	synonymous_variant	220001	exon5			ACATTCGTCAATG	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.432C>T	11.37:g.61053895G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	64	26	0.40625	NM_152718	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																			G|0.998;A|0.002	0.002	strong		0.547	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		A	61053895	G	A	61053895	2	1	23	1	0	0	0	0	0	0	0	1	17242	1136	40	1		1	VWCE	11	61053895	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	277709	61053895	73952621	2794	19250										
DDB1	1642	hgsc.bcm.edu	37	chr11	61099072	61099072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacatgcccacctctttgacGggccgaagcccctcggcggt	11	16	1	1	rs2230356	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:61099072G>A	ENST00000301764.7	-	2	550	c.153C>T	c.(151-153)ccC>ccT	p.P51P	DAK_ENST00000394900.3_5'Flank|DDB1_ENST00000450997.2_Silent_p.P51P	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	51	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCTTTGACGGGCCGAAGCC	0.512								Nucleotide excision repair (NER)					G|||	237	0.0473243	0.0416	0.0807	5008	,	,		17974	0.0		0.1143	False		,,,				2504	0.0112				p.P51P		Atlas-SNP	.											.	DDB1	100	.	0			c.C153T						PASS	.	G		185,4221	118.4+/-156.1	3,179,2021	109	91	97		153	-4.4	1	11	dbSNP_98	97	910,7688	203.0+/-246.1	51,808,3440	no	coding-synonymous	DDB1	NM_001923.3		54,987,5461	AA,AG,GG		10.5839,4.1988,8.4205		51/1141	61099072	1095,11909	2203	4299	6502	SO:0001819	synonymous_variant	1642	exon2			TTTGACGGGCCGA	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.153C>T	11.37:g.61099072G>A		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	197	96	0.48731	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																			G|0.928;A|0.072	0.072	strong		0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		A	61099072	G	A	61099072	2	1	23	1	0	0	0	0	0	0	0	1	4323	1103	39	1		1	DDB1	11	61099072	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	45177	61099072	73907444	2795	19251										
C11orf9	745	hgsc.bcm.edu	37	chr11	61553284	61553284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccagggcacctctcacCggtggccaataaccatcctg	8	17	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:61553284C>T	ENST00000278836.5	+	26	3409	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W	MYRF_ENST00000265460.5_Missense_Mutation_p.R1065W|MYRF_ENST00000389602.4_Missense_Mutation_p.R491W|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1105					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACCTCTCACCGGTGGCCAAT	0.622																																					p.R1105W		Atlas-SNP	.											C11orf9,right_upper_lobe,carcinoma,-1,1	.	.	1	0			c.C3313T						scavenged	.						81	75	77					11																	61553284		2202	4299	6501	SO:0001583	missense	745	exon26			TCTCACCGGTGGC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3313C>T	11.37:g.61553284C>T	ENSP00000278836:p.Arg1105Trp	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	228	3	0.0131579	NM_001127392	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618976	0.46736	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.45276	0.9;0.9;0.9	5.08	5.08	0.68730	.	0.301612	0.31734	N	0.007144	T	0.37210	0.0995	N	0.22421	0.69	0.80722	D	1	D;P;D	0.55605	0.972;0.956;0.964	P;P;P	0.49597	0.616;0.502;0.536	T	0.20174	-1.0283	10	0.62326	D	0.03	-16.2016	11.3429	0.49543	0.0:0.9167:0.0:0.0833	.	491;1065;1105	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	W	1105;1065;491	ENSP00000278836:R1105W;ENSP00000265460:R1065W;ENSP00000374253:R491W	ENSP00000265460:R1065W	R	+	1	2	C11orf9	61309860	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.065000	0.41442	2.537000	0.85549	0.561000	0.74099	CGG	.	.	none		0.622	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61553284	C	T	61553284	3	4	23	1	0	0	0	0	1	0	0	0	1671	643	23	1	3441	1	C11orf9	11	61553284	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	454212	61553284	73453232	2796	19252										
BEST1	7439	hgsc.bcm.edu	37	chr11	61730183	61730183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaattgctctcagagagCgatggggccttgatggagca	14	7	1	3	rs1800008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:61730183C>T	ENST00000378043.4	+	10	2200	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000449131.2_Silent_p.S459S|BEST1_ENST00000378042.3_Silent_p.S432S|BEST1_ENST00000301774.9_Silent_p.S147S|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	519					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TCTCAGAGAGCGATGGGGCCT	0.473													C|||	508	0.101438	0.0166	0.1239	5008	,	,		21604	0.003		0.2167	False		,,,				2504	0.183				p.S519S		Atlas-SNP	.											BEST1_ENST00000449131,NS,carcinoma,+1,2	BEST1	85	2	0			c.C1557T						PASS	.	C	,	219,4185	132.9+/-169.3	6,207,1989	78	74	76		1377,1557	-6.9	0	11	dbSNP_89	76	1998,6600	351.3+/-328.2	229,1540,2530	no	coding-synonymous,coding-synonymous	BEST1	NM_001139443.1,NM_004183.3	,	235,1747,4519	TT,TC,CC		23.238,4.9728,17.0512	,	459/605,519/586	61730183	2217,10785	2202	4299	6501	SO:0001819	synonymous_variant	7439	exon10			AGAGAGCGATGGG	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1557C>T	11.37:g.61730183C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	22	0.309859	NM_004183	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																			C|0.846;T|0.154	0.154	strong		0.473	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		T	61730183	C	T	61730183	2	4	23	1	0	0	0	0	0	0	0	1	1404	767	27	1		1	BEST1	11	61730183	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	176899	61730183	73276333	2797	19253										
BEST1	7439	hgsc.bcm.edu	37	chr11	61730553	61730553	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggatcctagggaagtgtTcgggaccttttctcacttca	11	10	2	0	rs17185413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:61730553T>C	ENST00000378043.4	+	10	2382				BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000449131.2_Missense_Mutation_p.S583P|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.S271P|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGGGAAGTGTTCGGGACCTTT	0.537													T|||	523	0.104433	0.0151	0.1268	5008	,	,		21309	0.002		0.2247	False		,,,				2504	0.1912				p.S583P		Atlas-SNP	.											BEST1_ENST00000449131,colon,carcinoma,-1,2	BEST1	85	2	0			c.T1747C						scavenged	.	T	PRO/SER,	73,1311		1,71,620	52	45	47		1747,	-2.9	0	11	dbSNP_123	47	798,2384		102,594,895	yes	missense,intron	BEST1	NM_001139443.1,NM_004183.3	74,	103,665,1515	CC,CT,TT		25.0786,5.2746,19.0758	,	583/605,	61730553	871,3695	692	1591	2283	SO:0001627	intron_variant	7439	exon9			AAGTGTTCGGGAC	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+188T>C	11.37:g.61730553T>C		Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	167	78	0.467066	NM_001139443	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	230	0.10531135531135531	9	0.018292682926829267	60	0.16574585635359115	0	0.0	161	0.21240105540897097	T	17.59	3.427298	0.62733	0.052746	0.250786	ENSG00000167995	ENST00000301774;ENST00000449131	T;D	0.97209	-0.36;-4.29	4.35	-2.91	0.05631	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.50448	-0.8827	7	.	.	.	.	2.0384	0.03545	0.1365:0.3758:0.2746:0.2131	rs17185413	583	O76090-3	.	P	271;583	ENSP00000301774:S271P;ENSP00000399709:S583P	.	S	+	1	0	BEST1	61487129	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.347000	0.07750	-0.344000	0.08338	0.459000	0.35465	TCG	T|0.906;C|0.094	0.094	strong		0.537	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61730553	T	C	61730553	1	2	23	0	1	0	0	0	0	0	0	0	1404	1783	62	2		2	BEST1	11	61730553	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	370	61730553	73275963	2798	19254										
AHNAK	79026	hgsc.bcm.edu	37	chr11	62284888	62284888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagctcacggccagagaaGgtaaatttggggatcttcat	11	9	3	1	rs11555628	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:62284888G>A	ENST00000378024.4	-	5	17275	c.17001C>T	c.(16999-17001)acC>acT	p.T5667T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5667					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCCAGAGAAGGTAAATTTGG	0.537													G|||	103	0.0205671	0.0015	0.0476	5008	,	,		18673	0.001		0.0606	False		,,,				2504	0.0061				p.T5667T		Atlas-SNP	.											.	AHNAK	532	.	0			c.C17001T						PASS	.	G	,	36,4368	40.0+/-72.8	0,36,2166	54	54	54		17001,	2	1	11	dbSNP_120	54	430,8168	131.0+/-188.9	13,404,3882	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	13,440,6048	AA,AG,GG		5.0012,0.8174,3.5841	,	5667/5891,	62284888	466,12536	2202	4299	6501	SO:0001819	synonymous_variant	79026	exon5			AGAGAAGGTAAAT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17001C>T	11.37:g.62284888G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	144	67	0.465278	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																			G|0.966;C|0.000;A|0.034	0.034	strong		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62284888	G	A	62284888	2	1	23	1	0	0	0	0	0	0	0	1	414	987	35	2		2	AHNAK	11	62284888	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	554335	62284888	72721628	2799	19255										
EML3	256364	hgsc.bcm.edu	37	chr11	62378660	62378660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccttcagattgggtcccGctaggctcttcgctggcccc	10	17	2	1	rs12808829	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:62378660G>A	ENST00000394773.2	-	3	658	c.351C>T	c.(349-351)agC>agT	p.S117S	EML3_ENST00000278845.4_Silent_p.S118S|EML3_ENST00000529309.1_Silent_p.S117S|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_Silent_p.S89S|ROM1_ENST00000534093.1_5'Flank|ROM1_ENST00000278833.3_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	117						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						ATTGGGTCCCGCTAGGCTCTT	0.687													A|||	972	0.194089	0.1936	0.2032	5008	,	,		15245	0.0506		0.3161	False		,,,				2504	0.2106				p.S117S		Atlas-SNP	.											.	EML3	61	.	0			c.C351T						PASS	.	A		926,3418		102,722,1348	11	14	13		351	-5.5	0.1	11	dbSNP_121	13	2990,5538		549,1892,1823	no	coding-synonymous	EML3	NM_153265.2		651,2614,3171	AA,AG,GG		35.061,21.3168,30.4226		117/897	62378660	3916,8956	2172	4264	6436	SO:0001819	synonymous_variant	256364	exon3			GGTCCCGCTAGGC	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.351C>T	11.37:g.62378660G>A		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_153265	Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	CCDS8023.2	472	0.21611721611721613	112	0.22764227642276422	91	0.2513812154696133	32	0.055944055944055944	237	0.31266490765171506	A	4.052	0.007268	0.07866	0.213168	0.35061	ENSG00000149499	ENST00000394776	.	.	.	5.05	-5.49	0.02584	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999872094	.	.	.	.	.	.	T	0.37865	-0.9687	3	.	.	.	-0.0522	7.3335	0.26596	0.2996:0.2839:0.4165:0.0	rs12808829	.	.	.	W	112	.	.	R	-	1	2	EML3	62135236	0.008000	0.16893	0.095000	0.20976	0.334000	0.28698	-0.688000	0.05150	-1.005000	0.03417	-0.521000	0.04368	CGG	G|0.761;A|0.239	0.239	strong		0.687	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		A	62378660	G	A	62378660	2	1	23	1	0	0	0	0	0	0	0	1	5098	1078	38	1		1	EML3	11	62378660	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	93772	62378660	72627856	2800	19256										
GANAB	23193	hgsc.bcm.edu	37	chr11	62397114	62397114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggacaaaggggcgttccaTgcccccagagcgctgtctca	12	14	1	1	rs76572368	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:62397114T>C	ENST00000356638.3	-	15	1796	c.1780A>G	c.(1780-1782)Atg>Gtg	p.M594V	GANAB_ENST00000346178.4_Missense_Mutation_p.M616V|GANAB_ENST00000534779.1_Missense_Mutation_p.M502V|GANAB_ENST00000540933.1_Missense_Mutation_p.M497V	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	594					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GGGCGTTCCATGCCCCCAGAG	0.597													T|||	89	0.0177716	0.0008	0.0389	5008	,	,		20960	0.001		0.0547	False		,,,				2504	0.0051				p.M616V	Melanoma(23;1005 1074 15747 18937)	Atlas-SNP	.											.	GANAB	110	.	0			c.A1846G						PASS	.	T	VAL/MET,VAL/MET	28,4376	31.7+/-61.6	0,28,2174	37	37	37		1780,1846	-4.7	0.1	11	dbSNP_131	37	362,8236	115.7+/-175.5	10,342,3947	yes	missense,missense	GANAB	NM_198334.1,NM_198335.2	21,21	10,370,6121	CC,CT,TT		4.2103,0.6358,2.9995	benign,benign	594/945,616/967	62397114	390,12612	2202	4299	6501	SO:0001583	missense	23193	exon16			GTTCCATGCCCCC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1780A>G	11.37:g.62397114T>C	ENSP00000349053:p.Met594Val	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	228	92	0.403509	NM_198335	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	53	0.024267399267399268	0	0.0	14	0.03867403314917127	0	0.0	39	0.051451187335092345	T	7.943	0.743196	0.15642	0.006358	0.042103	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.31	-4.7	0.03288	Glycoside hydrolase, superfamily (1);	0.908173	0.09646	N	0.774318	T	0.25419	0.0618	N	0.00368	-1.59	0.09310	N	1	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	0.53961	-0.8364	10	0.29301	T	0.29	0.5168	8.9385	0.35715	0.0:0.4806:0.1198:0.3996	.	480;502;594;616	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	V	616;594;502;497	ENSP00000340466:M616V;ENSP00000349053:M594V;ENSP00000435306:M502V;ENSP00000442962:M497V	ENSP00000340466:M616V	M	-	1	0	GANAB	62153690	0.000000	0.05858	0.133000	0.22050	0.980000	0.70556	-1.352000	0.02619	-0.731000	0.04862	0.533000	0.62120	ATG	T|0.974;C|0.026	0.026	strong		0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		C	62397114	T	C	62397114	3	2	23	1	0	0	0	0	1	0	0	0	6233	1464	51	2	1094	2	GANAB	11	62397114	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	18454	62397114	72609402	2801	19257										
NAA40	79829	hgsc.bcm.edu	37	chr11	63713317	63713317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttccctgttgcagagaaaGtcaagcaaagccaaggagaa	10	8	1	2	rs3740637	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:63713317G>A	ENST00000377793.4	+	2	113	c.12G>A	c.(10-12)aaG>aaA	p.K4K	NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_5'UTR|NAA40_ENST00000542163.1_5'UTR|NAA40_ENST00000539656.1_Silent_p.K4K	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	4					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGCAGAGAAAGTCAAGCAAAG	0.537											OREG0021041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	852	0.170128	0.0189	0.1499	5008	,	,		21146	0.0565		0.3946	False		,,,				2504	0.2751				p.K4K		Atlas-SNP	.											.	NAA40	13	.	0			c.G12A						PASS	.	G		359,4043	183.6+/-211.2	23,313,1865	184	149	161		12	5	1	11	dbSNP_107	161	3425,5169	504.9+/-376.3	658,2109,1530	no	coding-synonymous	NAA40	NM_024771.2		681,2422,3395	AA,AG,GG		39.8534,8.1554,29.1167		4/238	63713317	3784,9212	2201	4297	6498	SO:0001819	synonymous_variant	79829	exon2			GAGAAAGTCAAGC	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.12G>A	11.37:g.63713317G>A		Somatic	109	0	0	1071	WXS	Illumina HiSeq	Phase_I	132	59	0.44697	NM_024771	B4DR03|B4DU10|Q5HYL5|Q9H897	Silent	SNP	ENST00000377793.4	37	CCDS8053.1																																																																																			G|0.756;A|0.244	0.244	strong		0.537	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		A	63713317	G	A	63713317	2	1	23	1	0	0	0	0	0	0	0	1	10125	1020	36	2		2	NAA40	11	63713317	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1316203	63713317	71293199	2802	19258										
MACROD1	28992	hgsc.bcm.edu	37	chr11	63767186	63767186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcggagctcggcagcctgActggcgctgggctccccgta	15	15	0	1	rs709594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:63767186A>G	ENST00000255681.6	-	6	780	c.714T>C	c.(712-714)agT>agC	p.S238S	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	238	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGCAGCCTGACTGGCGCTGG	0.726													G|||	2143	0.427915	0.736	0.2493	5008	,	,		10778	0.1379		0.4463	False		,,,				2504	0.4182				p.S238S		Atlas-SNP	.											.	MACROD1	17	.	0			c.T714C						PASS	.	G		2959,1321		1069,821,250	10	13	12		714	3.8	1	11	dbSNP_86	12	3770,4672		906,1958,1357	no	coding-synonymous	MACROD1	NM_014067.3		1975,2779,1607	GG,GA,AA		44.6577,30.8645,47.1074		238/326	63767186	6729,5993	2140	4221	6361	SO:0001819	synonymous_variant	28992	exon6			AGCCTGACTGGCG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.714T>C	11.37:g.63767186A>G		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_014067	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			A|0.619;G|0.381	0.381	strong		0.726	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		G	63767186	A	G	63767186	2	3	23	1	0	0	0	0	0	0	0	1	9145	272	10	2		2	MACROD1	11	63767186	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	53869	63767186	71239330	2803	19259										
FLRT1	28992	hgsc.bcm.edu	37	chr11	63884747	63884747	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggttttgtggctgcaacctCatgtggctgcgggactgggt	16	8	1	0	rs35247680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:63884747C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.L336L|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCTGCAACCTCATGTGGCTGC	0.657													C|||	67	0.0133786	0.003	0.0173	5008	,	,		17278	0.0		0.0447	False		,,,				2504	0.0061				p.L336L		Atlas-SNP	.											.	FLRT1	46	.	0			c.C1008T						PASS	.	C	,	29,4373	35.2+/-66.4	0,29,2172	54	57	56		1008,	5.2	1	11	dbSNP_126	56	359,8235	120.6+/-179.8	7,345,3945	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	7,374,6117	TT,TC,CC		4.1773,0.6588,2.9855	,	336/675,	63884747	388,12608	2201	4297	6498	SO:0001627	intron_variant	23769	exon2			CAACCTCATGTGG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33963G>A	11.37:g.63884747C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	165	163	0.987879	NM_013280	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			C|0.975;T|0.025	0.025	strong		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		T	63884747	C	T	63884747	1	4	23	0	1	0	0	0	0	0	0	0	5938	813	29	2		2	FLRT1	11	63884747	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	117561	63884747	71121769	2804	19260										
FLRT1	28992	hgsc.bcm.edu	37	chr11	63885704	63885704	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacacacaccattggctaCggcaccacgcggggctaccg	11	17	0	0	rs677447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:63885704C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.Y655Y|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CCATTGGCTACGGCACCACGC	0.652													C|||	1996	0.398562	0.1309	0.5346	5008	,	,		15285	0.3254		0.6958	False		,,,				2504	0.4335				p.Y655Y		Atlas-SNP	.											.	FLRT1	46	.	0			c.C1965T						PASS	.	C	,	964,3436		109,746,1345	56	50	52		1965,	2.3	1	11	dbSNP_83	52	5867,2725		2028,1811,457	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	2137,2557,1802	TT,TC,CC		31.7155,21.9091,47.4215	,	655/675,	63885704	6831,6161	2200	4296	6496	SO:0001627	intron_variant	23769	exon2			TGGCTACGGCACC	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33006G>A	11.37:g.63885704C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	146	145	0.993151	NM_013280	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			C|0.533;T|0.467	0.467	strong		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		T	63885704	C	T	63885704	1	4	23	0	1	0	0	0	0	0	0	0	5938	547	19	1		1	FLRT1	11	63885704	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	957	63885704	71120812	2805	19261										
VEGFB	7423	hgsc.bcm.edu	37	chr11	64004692	64004692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagtgctgtgaagccagaCaggtgagtcttttggactcc	13	9	1	3	rs11558381|rs12366035	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64004692C>T	ENST00000309422.2	+	5	704	c.408C>T	c.(406-408)gaC>gaT	p.D136D	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_Silent_p.D136D|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	136					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)	p.D136D(1)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGAAGCCAGACAGGTGAGTCT	0.488													C|||	862	0.172125	0.0151	0.134	5008	,	,		14845	0.1478		0.2952	False		,,,				2504	0.3098				p.D136D		Atlas-SNP	.											VEGFB,NS,carcinoma,0,1	VEGFB	18	1	1	Substitution - coding silent(1)	stomach(1)	c.C408T						PASS	.	C		242,4160	139.6+/-175.2	7,228,1966	134	123	127		408	4.5	1	11	dbSNP_120	127	2673,5921	430.0+/-356.4	414,1845,2038	no	coding-synonymous	VEGFB	NM_003377.4		421,2073,4004	TT,TC,CC		31.1031,5.4975,22.43		136/208	64004692	2915,10081	2201	4297	6498	SO:0001819	synonymous_variant	7423	exon5			GCCAGACAGGTGA	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.408C>T	11.37:g.64004692C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_003377	Q16528	Silent	SNP	ENST00000309422.2	37	CCDS8062.1																																																																																			C|0.792;T|0.208	0.208	strong		0.488	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		T	64004692	C	T	64004692	2	4	23	1	0	0	0	0	0	0	0	1	17148	477	17	2		2	VEGFB	11	64004692	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	118988	64004692	71001824	2806	19262										
PLCB3	5331	hgsc.bcm.edu	37	chr11	64026685	64026685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgccctgagcgagagctcCgcggccaccgagccctcctc	11	19	1	2	rs28395882	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64026685C>T	ENST00000540288.1	+	13	1597	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	PLCB3_ENST00000279230.6_Silent_p.S498S|PLCB3_ENST00000325234.5_Silent_p.S431S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	498					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						GCGAGAGCTCCGCGGCCACCG	0.706													C|||	865	0.172724	0.0234	0.147	5008	,	,		12937	0.1339		0.3012	False		,,,				2504	0.3006				p.S498S		Atlas-SNP	.											PLCB3,NS,carcinoma,0,1	PLCB3	103	1	0			c.C1494T						PASS	.	C	,	242,4066		8,226,1920	9	11	11		1494,1293	-9.8	0	11	dbSNP_126	11	2553,5907		423,1707,2100	no	coding-synonymous,coding-synonymous	PLCB3	NM_000932.2,NM_001184883.1	,	431,1933,4020	TT,TC,CC		30.1773,5.6175,21.8907	,	498/1235,431/1168	64026685	2795,9973	2154	4230	6384	SO:0001819	synonymous_variant	5331	exon13			GAGCTCCGCGGCC	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.1494C>T	11.37:g.64026685C>T		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_000932	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																			C|0.817;T|0.183	0.183	strong		0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64026685	C	T	64026685	2	4	23	1	0	0	0	0	0	0	0	1	12029	639	23	1		1	PLCB3	11	64026685	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21993	64026685	70979831	2807	19263										
SLC22A11	55867	hgsc.bcm.edu	37	chr11	64336209	64336209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgggataagcctaacctgCctcaccatctacaaggctga	8	12	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64336209C>T	ENST00000301891.4	+	8	1715	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	SLC22A11_ENST00000377581.3_Silent_p.C447C|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	447					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.C447*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCTAACCTGCCTCACCATCT	0.597																																					p.C447C		Atlas-SNP	.											SLC22A11,colon,carcinoma,0,1	SLC22A11	54	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1341T						scavenged	.						210	166	181					11																	64336209		2201	4297	6498	SO:0001819	synonymous_variant	55867	exon8			AACCTGCCTCACC	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1341C>T	11.37:g.64336209C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	226	3	0.0132743	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																			.	.	none		0.597	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64336209	C	T	64336209	2	4	23	1	0	0	0	0	0	0	0	1	14442	747	26	2		2	SLC22A11	11	64336209	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	309524	64336209	70670307	2808	19264										
ARL2	402	hgsc.bcm.edu	37	chr11	64789194	64789194	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacctttgtcctcccaggTcctggagctggactccatcc	9	16	0	0	rs664226	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64789194T>C	ENST00000246747.4	+	5	517	c.422T>C	c.(421-423)gTc>gCc	p.V141A	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Splice_Site_p.V114A|ARL2_ENST00000529384.1_Splice_Site_p.V141A	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	141			V -> A (in dbSNP:rs664226). {ECO:0000269|PubMed:15146197, ECO:0000269|PubMed:8415637, ECO:0000269|Ref.3}.		cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.V141A(1)|p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						TCCTCCCAGGTCCTGGAGCTG	0.667													C|||	2292	0.457668	0.7088	0.3905	5008	,	,		16560	0.1806		0.6064	False		,,,				2504	0.2986				p.V141A		Atlas-SNP	.											ARL2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ARL2	11	1	2	Substitution - Missense(1)|Unknown(1)	central_nervous_system(2)	c.T422C						PASS	.	C	ALA/VAL,ALA/VAL	3111,1291	423.4+/-340.1	1097,917,187	43	35	38		341,422	3.5	1	11	dbSNP_83	38	5392,3200	467.6+/-367.1	1685,2022,589	yes	missense-near-splice,missense-near-splice	ARL2	NM_001199745.1,NM_001667.3	64,64	2782,2939,776	CC,CT,TT		37.2439,29.3276,34.5621	benign,benign	114/158,141/185	64789194	8503,4491	2201	4296	6497	SO:0001630	splice_region_variant	402	exon5			CCCAGGTCCTGGA	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.421-1T>C	11.37:g.64789194T>C		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_001667	G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	CCDS8088.1	1041	0.4766483516483517	331	0.6727642276422764	163	0.45027624309392267	92	0.16083916083916083	455	0.600263852242744	C	2.707	-0.269614	0.05716	0.706724	0.627561	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	D;D;D	0.81908	-1.55;-1.55;-1.55	4.5	3.5	0.40072	Small GTP-binding protein domain (1);	0.315868	0.28082	N	0.016667	T	0.00012	0.0000	N	0.00666	-1.275	0.09310	P	0.9999999999922409	B	0.02656	0.0	B	0.06405	0.002	T	0.45891	-0.9230	9	0.27785	T	0.31	-11.8565	8.1549	0.31162	0.0:0.7835:0.0:0.2165	rs664226;rs947902;rs2070187;rs2230868;rs11540367;rs61323596;rs664226	141	P36404	ARL2_HUMAN	A	141;141;114	ENSP00000246747:V141A;ENSP00000436021:V141A;ENSP00000432971:V114A	ENSP00000246747:V141A	V	+	2	0	ARL2	64545770	0.998000	0.40836	1.000000	0.80357	0.768000	0.43524	2.192000	0.42649	1.136000	0.42199	-0.338000	0.08134	GTC	T|0.439;C|0.561	0.561	strong		0.667	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667	Missense_Mutation	C	64789194	T	C	64789194	5	2	23	1	0	0	0	0	0	0	1	0	933	1681	58	2	440	2	ARL2	11	64789194	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	452985	64789194	70217322	2809	19265										
SYVN1	84447	hgsc.bcm.edu	37	chr11	64898226	64898226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggtgactgcgctggcagCgatgcacgaaggacatccat	15	10	0	1	rs9971407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64898226C>T	ENST00000377190.3	-	11	1105	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	SYVN1_ENST00000526060.1_Silent_p.S337S|SYVN1_ENST00000294256.8_Silent_p.S337S|SYVN1_ENST00000307289.6_Silent_p.S286S|SYVN1_ENST00000526121.1_5'UTR	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	337					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.S337S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCGCTGGCAGCGATGCACGAA	0.692													c|||	657	0.13119	0.1051	0.1556	5008	,	,		10257	0.0615		0.2266	False		,,,				2504	0.1227				p.S337S		Atlas-SNP	.											SYVN1,NS,lymphoid_neoplasm,0,1	SYVN1	55	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1011A						PASS	.	C	,	524,3876		36,452,1712	21	25	24		1011,1011	-10.4	0.1	11	dbSNP_119	24	2025,6561		255,1515,2523	no	coding-synonymous,coding-synonymous	SYVN1	NM_032431.2,NM_172230.2	,	291,1967,4235	TT,TC,CC		23.5849,11.9091,19.6288	,	337/617,337/618	64898226	2549,10437	2200	4293	6493	SO:0001819	synonymous_variant	84447	exon11			TGGCAGCGATGCA	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1011G>A	11.37:g.64898226C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	24	6	0.25	NM_172230	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1																																																																																			C|0.844;T|0.156	0.156	strong		0.692	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		T	64898226	C	T	64898226	2	4	23	1	0	0	0	0	0	0	0	1	15484	755	27	1		1	SYVN1	11	64898226	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	109032	64898226	70108290	2810	19266										
CAPN1	823	hgsc.bcm.edu	37	chr11	64950970	64950970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctggctcttggcggccatCgcctccctcactctcaacga	9	17	3	0	rs17583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64950970C>T	ENST00000527323.1	+	3	603	c.363C>T	c.(361-363)atC>atT	p.I121I	CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000279247.6_Silent_p.I121I|CAPN1_ENST00000524773.1_Silent_p.I121I|CAPN1_ENST00000533129.1_Silent_p.I121I|CAPN1_ENST00000533820.1_Silent_p.I121I|AP003068.23_ENST00000526623.1_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	121	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGCGGCCATCGCCTCCCTCA	0.637													C|||	1225	0.244609	0.053	0.4035	5008	,	,		17061	0.2966		0.3012	False		,,,				2504	0.2791				p.I121I		Atlas-SNP	.											CAPN1,colon,carcinoma,0,1	CAPN1	44	1	0			c.C363T						scavenged	.	C	,,	387,3821		14,359,1731	43	49	47		363,363,363	-3.1	0.9	11	dbSNP_63	47	2406,6032		320,1766,2133	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN1	NM_001198868.1,NM_001198869.1,NM_005186.3	,,	334,2125,3864	TT,TC,CC		28.5139,9.1968,22.086	,,	121/715,121/715,121/715	64950970	2793,9853	2104	4219	6323	SO:0001819	synonymous_variant	823	exon4			GGCCATCGCCTCC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.363C>T	11.37:g.64950970C>T		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	171	86	0.502924	NM_001198869	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			C|0.734;T|0.266	0.266	strong		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			T	64950970	C	T	64950970	2	4	23	1	0	0	0	0	0	0	0	1	2622	874	31	1		1	CAPN1	11	64950970	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	52744	64950970	70055546	2811	19267										
SLC22A20	823	hgsc.bcm.edu	37	chr11	64981472	64981472	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacttcctgcagaacttcacGgccgctgtccccccccacca	6	20	1	1	rs239258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64981472G>C	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.T43T(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGAACTTCACGGCCGCTGTCC	0.687													G|||	1736	0.346645	0.233	0.2939	5008	,	,		12972	0.3929		0.4553	False		,,,				2504	0.3783				p.T43T		Atlas-SNP	.											SLC22A20,NS,carcinoma,0,6	SLC22A20	36	6	2	Substitution - coding silent(2)	prostate(2)	c.G129C						PASS	.	G		845,3041		105,635,1203	10	15	13		129	-4.7	0.8	11	dbSNP_79	13	3702,4532		877,1948,1292	no	coding-synonymous	SLC22A20	NM_001004326.4		982,2583,2495	CC,CG,GG		44.9599,21.7447,37.5165		43/350	64981472	4547,7573	1943	4117	6060	SO:0001628	intergenic_variant	440044	exon1			CTTCACGGCCGCT	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981472G>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	66	33	0.5	NM_001004326	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			G|0.614;C|0.386	0.386	strong		0.687	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			C	64981472	G	C	64981472	1	2	23	0	1	0	0	0	0	0	0	0	14451	1103	39	4		4	SLC22A20	11	64981472	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	30502	64981472	70025044	2812	19268										
SLC22A20	823	hgsc.bcm.edu	37	chr11	64981853	64981853	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcgcagtccgtctacatGgccggggtgctggtgggggc	19	11	1	0	rs239259	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:64981853G>T	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGTCTACATGGCCGGGGTGC	0.667													G|||	1489	0.297324	0.1082	0.268	5008	,	,		14644	0.3889		0.4115	False		,,,				2504	0.362				p.M146I		Atlas-SNP	.											SLC22A20,NS,carcinoma,0,4	SLC22A20	36	4	0			c.G438T						scavenged	.	G	ILE/MET	617,3463		55,507,1478	30	34	33		438	4.5	1	11	dbSNP_79	33	3571,4793		742,2087,1353	yes	missense	SLC22A20	NM_001004326.4	10	797,2594,2831	TT,TG,GG		42.6949,15.1225,33.6548	probably-damaging	146/350	64981853	4188,8256	2040	4182	6222	SO:0001628	intergenic_variant	440044	exon2			CTACATGGCCGGG	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981853G>T		Somatic	69	1	0.0144928		WXS	Illumina HiSeq	Phase_I	76	45	0.592105	NM_001004326	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			G|0.667;T|0.333	0.333	strong		0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			T	64981853	G	T	64981853	1	4	23	0	1	0	0	0	0	0	0	0	14451	1348	47	4		4	SLC22A20	11	64981853	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	381	64981853	70024663	2813	19269										
SCYL1	57410	hgsc.bcm.edu	37	chr11	65293819	65293819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagagtggtcagagagaaGtggtgggtgactgggggcag	22	4	1	4	rs75169347	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65293819G>A	ENST00000270176.5	+	4	677	c.600G>A	c.(598-600)aaG>aaA	p.K200K	SCYL1_ENST00000524944.1_Silent_p.K200K|SCYL1_ENST00000525364.1_Silent_p.K200K|SCYL1_ENST00000533862.1_Silent_p.K200K|SCYL1_ENST00000420247.2_Silent_p.K200K|SCYL1_ENST00000527009.1_Silent_p.K57K|SCYL1_ENST00000279270.6_Silent_p.K200K	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TCAGAGAGAAGTGGTGGGTGA	0.657													G|||	91	0.0181709	0.0015	0.0303	5008	,	,		16563	0.0		0.0616	False		,,,				2504	0.0061				p.K200K		Atlas-SNP	.											.	SCYL1	76	.	0			c.G600A						PASS	.	G	,	34,4166		0,34,2066	16	19	18		600,600	-1.8	0.8	11	dbSNP_131	18	504,7942		14,476,3733	no	coding-synonymous,coding-synonymous	SCYL1	NM_001048218.1,NM_020680.3	,	14,510,5799	AA,AG,GG		5.9673,0.8095,4.2543	,	200/792,200/809	65293819	538,12108	2100	4223	6323	SO:0001819	synonymous_variant	57410	exon4			AGAGAAGTGGTGG	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.600G>A	11.37:g.65293819G>A		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	140	64	0.457143	NM_020680	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	CCDS41672.1																																																																																			G|0.968;A|0.032	0.032	strong		0.657	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		A	65293819	G	A	65293819	2	1	23	1	0	0	0	0	0	0	0	1	13947	1020	36	2		2	SCYL1	11	65293819	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	311966	65293819	69712697	2814	19270										
EHBP1L1	254102	hgsc.bcm.edu	37	chr11	65349037	65349037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcagccagcccaggacacGgcccccaccccagcccctcg	10	22	0	0	rs74684453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65349037G>A	ENST00000309295.4	+	9	1159	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	298						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCCAGGACACGGCCCCCACCC	0.677													G|||	34	0.00678914	0.0008	0.0086	5008	,	,		13897	0.0		0.0239	False		,,,				2504	0.0031				p.T298T		Atlas-SNP	.											.	EHBP1L1	64	.	0			c.G894A						PASS	.	G		13,3719		0,13,1853	8	9	9		894	3	0.8	11	dbSNP_134	9	194,7914		2,190,3862	no	coding-synonymous	EHBP1L1	NM_001099409.1		2,203,5715	AA,AG,GG		2.3927,0.3483,1.7483		298/1524	65349037	207,11633	1866	4054	5920	SO:0001819	synonymous_variant	254102	exon9			GGACACGGCCCCC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.894G>A	11.37:g.65349037G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	209	92	0.440191	NM_001099409	Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	CCDS44649.1																																																																																			G|0.989;A|0.011	0.011	strong		0.677	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		A	65349037	G	A	65349037	2	1	23	1	0	0	0	0	0	0	0	1	4976	1103	39	1		1	EHBP1L1	11	65349037	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	55218	65349037	69657479	2815	19271										
SIPA1	6494	hgsc.bcm.edu	37	chr11	65417434	65417434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccacagtcatgtcggaggcGggcagtgggaccctggagga	17	11	1	0	rs746429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65417434G>A	ENST00000394224.3	+	13	3056	c.2760G>A	c.(2758-2760)gcG>gcA	p.A920A	SIPA1_ENST00000394227.3_Silent_p.A818A|SIPA1_ENST00000527525.1_Silent_p.A818A|SIPA1_ENST00000534313.1_Silent_p.A920A|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	920					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTCGGAGGCGGGCAGTGGGA	0.642													G|||	1184	0.236422	0.1392	0.1974	5008	,	,		17816	0.2123		0.3569	False		,,,				2504	0.2965				p.A920A		Atlas-SNP	.											.	SIPA1	45	.	0			c.G2760A						PASS	.	G	,	845,3557	333.1+/-302.8	86,673,1442	67	72	71		2760,2760	-8.5	0.3	11	dbSNP_86	71	2995,5599	462.7+/-365.8	514,1967,1816	no	coding-synonymous,coding-synonymous	SIPA1	NM_006747.3,NM_153253.29	,	600,2640,3258	AA,AG,GG		34.8499,19.1958,29.5476	,	920/1043,920/1043	65417434	3840,9156	2201	4297	6498	SO:0001819	synonymous_variant	6494	exon13			GGAGGCGGGCAGT	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2760G>A	11.37:g.65417434G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_006747	O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	CCDS8108.1																																																																																			G|0.736;A|0.264	0.264	strong		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		A	65417434	G	A	65417434	2	1	23	1	0	0	0	0	0	0	0	1	14328	1103	39	1		1	SIPA1	11	65417434	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	68397	65417434	69589082	2816	19272										
DKFZp761E198	91056	hgsc.bcm.edu	37	chr11	65547333	65547333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggagaccttatccgtgaGcagtccccccaggccagccc	12	16	0	2	rs12146493	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65547333G>A	ENST00000532090.2	-	2	841	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	211	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TTATCCGTGAGCAGTCCCCCC	0.672													G|||	1521	0.303714	0.4576	0.2363	5008	,	,		16088	0.3413		0.3231	False		,,,				2504	0.0849				p.L211F		Atlas-SNP	.											AP5B1_ENST00000532090,NS,carcinoma,0,2	AP5B1	40	2	0			c.C631T						scavenged	.	G	PHE/LEU	1619,2289		351,917,686	30	36	34		460	4.6	1	11	dbSNP_120	34	2644,5616		421,1802,1907	yes	missense	DKFZp761E198	NM_138368.3	22	772,2719,2593	AA,AG,GG		32.0097,41.4278,35.0345	probably-damaging	154/822	65547333	4263,7905	1954	4130	6084	SO:0001583	missense	91056	exon2			CCGTGAGCAGTCC	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.631C>T	11.37:g.65547333G>A	ENSP00000454303:p.Leu211Phe	Somatic	356	2	0.00561798		WXS	Illumina HiSeq	Phase_I	365	166	0.454795	NM_138368	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	CCDS58146.1																																																																																			G|0.644;A|0.356	0.356	strong		0.672	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		A	65547333	G	A	65547333	3	1	23	1	0	0	0	0	1	0	0	0	4543	971	34	2	2009	2	DKFZp761E198	11	65547333	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	129899	65547333	69459183	2817	19273										
SNX32	254122	hgsc.bcm.edu	37	chr11	65601560	65601560	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagacgtatgcggaggttggGaaggagggcaaggtagagaa	20	3	0	2	rs17854357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65601560G>C	ENST00000308342.6	+	1	449	c.24G>C	c.(22-24)ggG>ggC	p.G8G	SNX32_ENST00000531795.1_Intron	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	8					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.G8G(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CGGAGGTTGGGAAGGAGGGCA	0.632													G|||	369	0.0736821	0.0272	0.1196	5008	,	,		5103	0.0585		0.161	False		,,,				2504	0.0297				p.G8G		Atlas-SNP	.											SNX32,NS,carcinoma,0,1	SNX32	46	1	1	Substitution - coding silent(1)	stomach(1)	c.G24C						PASS	.	G		186,3686		7,172,1757	140	135	137		24	0.3	0.8	11	dbSNP_123	137	1043,6373		67,909,2732	no	coding-synonymous	SNX32	NM_152760.2		74,1081,4489	CC,CG,GG		14.0642,4.8037,10.8877		8/404	65601560	1229,10059	1936	3708	5644	SO:0001819	synonymous_variant	254122	exon1			GGTTGGGAAGGAG	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.24G>C	11.37:g.65601560G>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	42	0.477273	NM_152760	Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	CCDS8113.2																																																																																			G|0.893;C|0.107	0.107	strong		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		C	65601560	G	C	65601560	2	2	23	1	0	0	0	0	0	0	0	1	14902	1161	41	4		4	SNX32	11	65601560	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	54227	65601560	69404956	2818	19274										
MUS81	80198	hgsc.bcm.edu	37	chr11	65631361	65631361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatcatcgacggccgcttcCgggagcagaaggtaattttg	13	10	1	1	rs34891773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65631361C>T	ENST00000308110.4	+	10	1397	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R275W|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	350	ERCC4.		R -> W (in dbSNP:rs34891773).		DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CGGCCGCTTCCGGGAGCAGAA	0.587								Homologous recombination					C|||	62	0.0123802	0.0197	0.0159	5008	,	,		18549	0.0		0.0239	False		,,,				2504	0.001				p.R350W		Atlas-SNP	.											.	MUS81	68	.	0			c.C1048T						PASS	.	C	TRP/ARG	59,4343	58.1+/-94.6	1,57,2143	62	69	67		1048	4.9	1	11	dbSNP_126	67	245,8347	97.7+/-159.3	3,239,4054	yes	missense	MUS81	NM_025128.4	101	4,296,6197	TT,TC,CC		2.8515,1.3403,2.3395	probably-damaging	350/552	65631361	304,12690	2201	4296	6497	SO:0001583	missense	80198	exon10			CGCTTCCGGGAGC		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1048C>T	11.37:g.65631361C>T	ENSP00000307853:p.Arg350Trp	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	37	0.41573	NM_025128	Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	32|32	0.014652014652014652|0.014652014652014652	13|13	0.026422764227642278|0.026422764227642278	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	14|14	0.018469656992084433|0.018469656992084433	C|C	24.3|24.3	4.513249|4.513249	0.85389|0.85389	0.013403|0.013403	0.028515|0.028515	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.23754	.|1.89;1.89	5.8|5.8	4.89|4.89	0.63831|0.63831	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);	.|0.177713	.|0.45126	.|D	.|0.000400	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.45228|0.45228	1.405|1.405	0.52501|0.52501	D|D	0.999959|0.999959	.|D	.|0.89917	.|1.0	.|D	.|0.64877	.|0.93	T|T	0.01298|0.01298	-1.1392|-1.1392	5|10	.|0.37606	.|T	.|0.19	-12.1179|-12.1179	12.8651|12.8651	0.57936|0.57936	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	rs34891773;rs61893866|rs34891773;rs61893866	.|350	.|Q96NY9	.|MUS81_HUMAN	L|W	275|275;350;350	.|ENSP00000432287:R275W;ENSP00000307853:R350W	.|ENSP00000307853:R350W	P|R	+|+	2|1	0|2	MUS81|MUS81	65387937|65387937	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.971000|0.971000	0.66376|0.66376	2.194000|2.194000	0.42668|0.42668	1.453000|1.453000	0.47775|0.47775	0.655000|0.655000	0.94253|0.94253	CCG|CGG	C|0.979;T|0.021	0.021	strong		0.587	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		T	65631361	C	T	65631361	3	4	23	1	0	0	0	0	1	0	0	0	9988	643	23	1	1086	1	MUS81	11	65631361	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29801	65631361	69375155	2819	19275										
CTSW	1521	hgsc.bcm.edu	37	chr11	65650883	65650883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaactcctggggggcccaAtggggagagaaggtgagtgt	18	6	0	3	rs35841983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65650883A>G	ENST00000307886.3	+	9	1054	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CTSW_ENST00000528419.1_Silent_p.Q336Q|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	336					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GGGGGGCCCAATGGGGAGAGA	0.602													A|||	89	0.0177716	0.0416	0.0159	5008	,	,		14914	0.0		0.0229	False		,,,				2504	0.0				p.Q336Q		Atlas-SNP	.											.	CTSW	18	.	0			c.A1008G						PASS	.	A		125,4277	94.8+/-133.5	3,119,2079	67	73	71		1008	-10	0	11	dbSNP_126	71	243,8349	97.7+/-159.3	3,237,4056	no	coding-synonymous	CTSW	NM_001335.3		6,356,6135	GG,GA,AA		2.8282,2.8396,2.8321		336/377	65650883	368,12626	2201	4296	6497	SO:0001819	synonymous_variant	1521	exon9			GGCCCAATGGGGA	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.1008A>G	11.37:g.65650883A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_001335	Q86VT4	Silent	SNP	ENST00000307886.3	37	CCDS8117.1																																																																																			A|0.975;G|0.025	0.025	strong		0.602	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		G	65650883	A	G	65650883	2	3	23	1	0	0	0	0	0	0	0	1	4042	98	4	2		2	CTSW	11	65650883	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19522	65650883	69355633	2820	19276										
CATSPER1	117144	hgsc.bcm.edu	37	chr11	65787666	65787666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttctcttggatccgggcGgccctctgggaagaagaggc	15	11	2	2	rs34769321|rs3829937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:65787666G>A	ENST00000312106.5	-	9	2207	c.2070C>T	c.(2068-2070)gcC>gcT	p.A690A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	690					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGATCCGGGCGGCCCTCTGGG	0.662													G|||	814	0.16254	0.2065	0.1254	5008	,	,		15119	0.1181		0.16	False		,,,				2504	0.1779				p.A690A		Atlas-SNP	.											.	CATSPER1	101	.	0			c.C2070T						PASS	.	G		904,3498	344.9+/-308.3	95,714,1392	43	45	44		2070	-9.2	0	11	dbSNP_107	44	1331,7261	257.5+/-281.5	102,1127,3067	no	coding-synonymous	CATSPER1	NM_053054.3		197,1841,4459	AA,AG,GG		15.4912,20.5361,17.2002		690/781	65787666	2235,10759	2201	4296	6497	SO:0001819	synonymous_variant	117144	exon9			CCGGGCGGCCCTC	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2070C>T	11.37:g.65787666G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	131	62	0.473282	NM_053054	Q96P76	Silent	SNP	ENST00000312106.5	37	CCDS8127.1																																																																																			G|0.834;A|0.166	0.166	strong		0.662	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		A	65787666	G	A	65787666	2	1	23	1	0	0	0	0	0	0	0	1	2687	1103	39	1		1	CATSPER1	11	65787666	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	136783	65787666	69218850	2821	19277										
CLCF1	23529	hgsc.bcm.edu	37	chr11	67135006	67135006	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttttctggatggaggggccAggccctgggtcccctgtgcg	17	11	1	0	rs867193	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:67135006A>T	ENST00000312438.7	-	2	305	c.108T>A	c.(106-108)ccT>ccA	p.P36P	CLCF1_ENST00000528474.1_Silent_p.P26P|CLCF1_ENST00000533438.1_Silent_p.P26P|AP003419.11_ENST00000543494.1_RNA	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	36					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TGGAGGGGCCAGGCCCTGGGT	0.622													A|||	391	0.0780751	0.1422	0.0519	5008	,	,		16418	0.1141		0.0358	False		,,,				2504	0.0164				p.P36P		Atlas-SNP	.											.	CLCF1	15	.	0			c.T108A						PASS	.	A	,	591,3809	260.4+/-263.7	47,497,1656	123	103	110		78,108	-4.2	1	11	dbSNP_86	110	290,8300	107.2+/-168.0	7,276,4012	no	coding-synonymous,coding-synonymous	CLCF1	NM_001166212.1,NM_013246.2	,	54,773,5668	TT,TA,AA		3.376,13.4318,6.7821	,	26/216,36/226	67135006	881,12109	2200	4295	6495	SO:0001819	synonymous_variant	23529	exon2			GGGGCCAGGCCCT	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1"	607672	"CRLF1 associated cytokine-like factor 1"			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.108T>A	11.37:g.67135006A>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	174	91	0.522988	NM_013246	B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	CCDS31617.1																																																																																			A|0.928;T|0.072	0.072	strong		0.622	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		T	67135006	A	T	67135006	2	4	23	1	0	0	0	0	0	0	0	1	3461	175	7	5		5	CLCF1	11	67135006	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1347340	67135006	67871510	2822	19278										
TBC1D10C	374403	hgsc.bcm.edu	37	chr11	67172911	67172911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcatcccgtctgccctgcgCgcccgatgctggcccctgtt	12	18	1	0	rs61734600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:67172911C>T	ENST00000542590.1	+	3	308	c.294C>T	c.(292-294)cgC>cgT	p.R98R	TBC1D10C_ENST00000312390.5_Silent_p.R98R|TBC1D10C_ENST00000526387.1_Silent_p.R98R			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	98	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGCCCTGCGCGCCCGATGCT	0.652													C|||	303	0.0605032	0.0794	0.0461	5008	,	,		18421	0.1141		0.0348	False		,,,				2504	0.0164				p.R98R		Atlas-SNP	.											.	TBC1D10C	42	.	0			c.C294T						PASS	.	C		323,4077	166.9+/-198.0	16,291,1893	47	44	45		294	-3.7	0.9	11	dbSNP_129	45	284,8306	106.2+/-167.1	7,270,4018	no	coding-synonymous	TBC1D10C	NM_198517.2		23,561,5911	TT,TC,CC		3.3062,7.3409,4.6728		98/447	67172911	607,12383	2200	4295	6495	SO:0001819	synonymous_variant	374403	exon4			CCTGCGCGCCCGA	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.294C>T	11.37:g.67172911C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	117	54	0.461538	NM_001256508	G3V1D6	Silent	SNP	ENST00000542590.1	37	CCDS8162.1																																																																																			C|0.948;T|0.052	0.052	strong		0.652	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		T	67172911	C	T	67172911	2	4	23	1	0	0	0	0	0	0	0	1	15597	755	27	1		1	TBC1D10C	11	67172911	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37905	67172911	67833605	2823	19279										
CARNS1	57571	hgsc.bcm.edu	37	chr11	67191346	67191346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagacttgcagggcgaggcCgaccacccaggcattgggct	15	13	0	1	rs3741180	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:67191346C>T	ENST00000307823.3	+	9	2210	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CARNS1_ENST00000531040.1_Silent_p.A683A|CARNS1_ENST00000423745.2_Silent_p.A586A|CARNS1_ENST00000445895.2_Silent_p.A709A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	586	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						AGGGCGAGGCCGACCACCCAG	0.632													C|||	61	0.0121805	0.0015	0.0086	5008	,	,		20290	0.0308		0.0169	False		,,,				2504	0.0051				p.A709A		Atlas-SNP	.											.	CARNS1	60	.	0			c.C2127T						PASS	.	C	,	26,4250		0,26,2112	82	92	88		2127,1758	-10.1	0.6	11	dbSNP_107	88	212,8250		5,202,4024	no	coding-synonymous,coding-synonymous	CARNS1	NM_001166222.1,NM_020811.1	,	5,228,6136	TT,TC,CC		2.5053,0.608,1.8684	,	709/951,586/828	67191346	238,12500	2138	4231	6369	SO:0001819	synonymous_variant	57571	exon10			CGAGGCCGACCAC		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1758C>T	11.37:g.67191346C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_001166222	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Silent	SNP	ENST00000307823.3	37	CCDS44658.1																																																																																			C|0.981;T|0.019	0.019	strong		0.632	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		T	67191346	C	T	67191346	2	4	23	1	0	0	0	0	0	0	0	1	2656	639	23	1		1	CARNS1	11	67191346	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18435	67191346	67815170	2824	19280										
RPS6KB2	6199	hgsc.bcm.edu	37	chr11	67200812	67200812	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccttcctcctcctccagcCgcccttcaccgcagagaacc	5	22	1	1	rs55987642	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:67200812C>T	ENST00000312629.5	+	10	845	c.800C>T	c.(799-801)cCg>cTg	p.P267L	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs55987642). {ECO:0000269|PubMed:17344846}.		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)			CTCCTCCAGCCGCCCTTCACC	0.657													C|||	122	0.024361	0.0023	0.0245	5008	,	,		16838	0.0427		0.0437	False		,,,				2504	0.0153				p.P267L		Atlas-SNP	.											.	RPS6KB2	92	.	0			c.C800T						PASS	.	C	LEU/PRO	46,3876		1,44,1916	85	95	92		800	4.4	0.7	11	dbSNP_129	92	443,7805		11,421,3692	yes	missense-near-splice	RPS6KB2	NM_003952.2	98	12,465,5608	TT,TC,CC		5.371,1.1729,4.0181	benign	267/483	67200812	489,11681	1961	4124	6085	SO:0001630	splice_region_variant	6199	exon10			TCCAGCCGCCCTT	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.799-1C>T	11.37:g.67200812C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_003952	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	65	0.02976190476190476	1	0.0020325203252032522	10	0.027624309392265192	21	0.03671328671328671	33	0.04353562005277045	C	10.88	1.475162	0.26511	0.011729	0.05371	ENSG00000175634	ENST00000312629	T	0.25749	1.78	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.140047	0.47852	D	0.000214	T	0.08492	0.0211	L	0.45470	1.425	0.80722	D	1	B;D	0.89917	0.231;1.0	B;D	0.91635	0.175;0.999	T	0.04053	-1.0981	10	0.02654	T	1	.	16.8602	0.86016	0.0:1.0:0.0:0.0	rs55987642;rs61891597	267;267	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	L	267	ENSP00000308413:P267L	ENSP00000308413:P267L	P	+	2	0	RPS6KB2	66957388	1.000000	0.71417	0.695000	0.30226	0.002000	0.02628	7.081000	0.76844	2.293000	0.77203	0.561000	0.74099	CCG	C|0.963;T|0.037	0.037	strong		0.657	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	Missense_Mutation	T	67200812	C	T	67200812	5	4	23	1	0	0	0	0	0	0	1	0	13657	666	23	1	838	1	RPS6KB2	11	67200812	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9466	67200812	67805704	2825	19281										
MTL5	9633	hgsc.bcm.edu	37	chr11	68512543	68512543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttctagaattgtctatacAtagcatttgtgtgccccctt	7	9	2	1	rs12365708	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68512543A>G	ENST00000255087.5	-	4	850	c.667T>C	c.(667-669)Tgt>Cgt	p.C223R	MTL5_ENST00000544963.1_Missense_Mutation_p.C223R|MTL5_ENST00000540869.1_Intron|MTL5_ENST00000443940.2_Missense_Mutation_p.C223R	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	223			C -> R (in dbSNP:rs12365708). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TTGTCTATACATAGCATTTGT	0.313													A|||	236	0.0471246	0.0204	0.0706	5008	,	,		15602	0.0188		0.1193	False		,,,				2504	0.0215				p.C223R		Atlas-SNP	.											.	MTL5	37	.	0			c.T667C						PASS	.	A	ARG/CYS,ARG/CYS	139,4261	97.1+/-135.8	6,127,2067	142	137	139		667,667	5.3	1	11	dbSNP_120	139	904,7682	202.0+/-245.4	55,794,3444	yes	missense,missense	MTL5	NM_001039656.1,NM_004923.3	180,180	61,921,5511	GG,GA,AA		10.5288,3.1591,8.0317	probably-damaging,probably-damaging	223/307,223/509	68512543	1043,11943	2200	4293	6493	SO:0001583	missense	9633	exon4			CTATACATAGCAT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.667T>C	11.37:g.68512543A>G	ENSP00000255087:p.Cys223Arg	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	160	84	0.525	NM_001039656	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	149	0.06822344322344322	12	0.024390243902439025	26	0.0718232044198895	17	0.02972027972027972	94	0.12401055408970976	A	14.03	2.413044	0.42817	0.031591	0.105288	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.67698	0.75;-0.28;0.31	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000026	T	0.02888	0.0086	L	0.34521	1.04	0.09310	P	0.9999968072	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.45934	-0.9227	9	0.36615	T	0.2	-11.1037	13.5671	0.61824	1.0:0.0:0.0:0.0	rs12365708;rs52818299;rs61464222;rs12365708	223;223	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	R	223	ENSP00000255087:C223R;ENSP00000403086:C223R;ENSP00000440968:C223R	ENSP00000255087:C223R	C	-	1	0	MTL5	68269119	0.990000	0.36364	1.000000	0.80357	0.978000	0.69477	1.869000	0.39519	2.006000	0.58801	0.533000	0.62120	TGT	A|0.925;G|0.075	0.075	strong		0.313	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		G	68512543	A	G	68512543	3	3	23	1	0	0	0	0	1	0	0	0	9936	217	8	2	891	2	MTL5	11	68512543	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1311731	68512543	66493973	2826	19282										
MTL5	9633	hgsc.bcm.edu	37	chr11	68514791	68514791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcaaagttgcttcttccGgattattacttgtagtagta	8	7	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68514791G>A	ENST00000255087.5	-	3	698	c.515C>T	c.(514-516)cCg>cTg	p.P172L	MTL5_ENST00000544963.1_Missense_Mutation_p.P172L|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_Missense_Mutation_p.P172L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	172					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P172Q(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGCTTCTTCCGGATTATTACT	0.423																																					p.P172L		Atlas-SNP	.											MTL5,NS,carcinoma,0,1	MTL5	37	1	1	Substitution - Missense(1)	lung(1)	c.C515T						scavenged	.						134	128	130					11																	68514791		2200	4294	6494	SO:0001583	missense	9633	exon3			TCTTCCGGATTAT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.515C>T	11.37:g.68514791G>A	ENSP00000255087:p.Pro172Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	157	2	0.0127389	NM_001039656	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496866	0.04291	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.42131	1.59;0.98;1.57	5.1	-2.27	0.06846	.	1.095660	0.06919	N	0.809035	T	0.20700	0.0498	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.19943	-1.0290	10	0.26408	T	0.33	-1.9232	4.6009	0.12352	0.3337:0.0:0.385:0.2813	.	172;155;172	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	L	172	ENSP00000255087:P172L;ENSP00000403086:P172L;ENSP00000440968:P172L	ENSP00000255087:P172L	P	-	2	0	MTL5	68271367	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.165000	0.09968	-0.189000	0.10482	-0.215000	0.12644	CCG	.	.	none		0.423	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		A	68514791	G	A	68514791	3	1	23	1	0	0	0	0	1	0	0	0	9936	1116	39	1	1047	1	MTL5	11	68514791	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2248	68514791	66491725	2827	19283										
CPT1A	1374	hgsc.bcm.edu	37	chr11	68560787	68560787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagcttgactcacctgtCtcctctcctgggatccggga	10	13	3	2	rs2229737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68560787C>T	ENST00000265641.5	-	9	1117	c.963G>A	c.(961-963)gaG>gaA	p.E321E	CPT1A_ENST00000538994.1_Silent_p.E73E|CPT1A_ENST00000539743.1_Silent_p.E321E|CPT1A_ENST00000540367.1_Silent_p.E321E|CPT1A_ENST00000376618.2_Silent_p.E321E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	321					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTCACCTGTCTCCTCTCCTG	0.483													C|||	255	0.0509185	0.0318	0.0663	5008	,	,		16444	0.0198		0.1233	False		,,,				2504	0.0235				p.E321E		Atlas-SNP	.											.	CPT1A	89	.	0			c.G963A						PASS	.	C	,	167,4233	106.9+/-145.3	4,159,2037	52	45	48		963,963	1.1	1	11	dbSNP_120	48	910,7678	198.9+/-243.1	56,798,3440	no	coding-synonymous,coding-synonymous	CPT1A	NM_001031847.2,NM_001876.3	,	60,957,5477	TT,TC,CC		10.5962,3.7955,8.2923	,	321/757,321/774	68560787	1077,11911	2200	4294	6494	SO:0001819	synonymous_variant	1374	exon9			ACCTGTCTCCTCT	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.963G>A	11.37:g.68560787C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	116	45	0.387931	NM_001876	Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	CCDS8185.1																																																																																			C|0.914;T|0.086	0.086	strong		0.483	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		T	68560787	C	T	68560787	2	4	23	1	0	0	0	0	0	0	0	1	3831	912	32	2		2	CPT1A	11	68560787	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45996	68560787	66445729	2828	19284										
IGHMBP2	3508	hgsc.bcm.edu	37	chr11	68682402	68682402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcccgcctcctggagtccAttcagcagcactccctggat	9	17	1	0	rs10896380	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68682402A>G	ENST00000255078.3	+	6	934	c.823A>G	c.(823-825)Att>Gtt	p.I275V	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	275	Leu-rich.		I -> V (in dbSNP:rs10896380). {ECO:0000269|PubMed:8349627}.		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGGAGTCCATTCAGCAGCA	0.597													A|||	600	0.119808	0.1074	0.1888	5008	,	,		15618	0.0149		0.2674	False		,,,				2504	0.044				p.I275V		Atlas-SNP	.											IGHMBP2,NS,carcinoma,-1,2	IGHMBP2	83	2	0			c.A823G						scavenged	.	A	VAL/ILE	545,3855	246.8+/-255.3	37,471,1692	102	92	95		823	0.1	0.4	11	dbSNP_120	95	2127,6461	366.2+/-334.2	258,1611,2425	yes	missense	IGHMBP2	NM_002180.2	29	295,2082,4117	GG,GA,AA		24.7671,12.3864,20.5728	benign	275/994	68682402	2672,10316	2200	4294	6494	SO:0001583	missense	3508	exon6			GAGTCCATTCAGC	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.823A>G	11.37:g.68682402A>G	ENSP00000255078:p.Ile275Val	Somatic	187	2	0.0106952		WXS	Illumina HiSeq	Phase_I	152	68	0.447368	NM_002180	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	343	0.15705128205128205	60	0.12195121951219512	73	0.20165745856353592	11	0.019230769230769232	199	0.262532981530343	A	5.864	0.343588	0.11126	0.123864	0.247671	ENSG00000132740	ENST00000255078	T	0.81078	-1.45	3.71	0.0501	0.14292	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.262406	0.37012	N	0.002293	T	0.00012	0.0000	N	0.02854	-0.475	0.09310	P	1.0	B	0.10296	0.003	B	0.15870	0.014	T	0.04915	-1.0918	9	0.02654	T	1	-23.5642	3.4248	0.07406	0.5127:0.0:0.3163:0.171	rs10896380;rs17533010;rs60474416;rs10896380	275	P38935	SMBP2_HUMAN	V	275	ENSP00000255078:I275V	ENSP00000255078:I275V	I	+	1	0	IGHMBP2	68438978	0.869000	0.29996	0.423000	0.26634	0.699000	0.40488	1.576000	0.36504	-0.090000	0.12462	0.454000	0.30748	ATT	A|0.824;G|0.176	0.176	strong		0.597	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		G	68682402	A	G	68682402	3	3	23	1	0	0	0	0	1	0	0	0	7591	217	8	2	845	2	IGHMBP2	11	68682402	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	121615	68682402	66324114	2829	19285										
IGHMBP2	3508	hgsc.bcm.edu	37	chr11	68701948	68701948	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggcgaagtccgcctcgtCagtttgcacatccaggctct	10	15	2	0	rs11228413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68701948C>T	ENST00000255078.3	+	11	1665	c.1554C>T	c.(1552-1554)gtC>gtT	p.V518V	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	518					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGCCTCGTCAGTTTGCACA	0.582													C|||	665	0.132788	0.1483	0.1902	5008	,	,		18535	0.0208		0.2644	False		,,,				2504	0.0511				p.V518V		Atlas-SNP	.											IGHMBP2,colon,carcinoma,+2,3	IGHMBP2	83	3	0			c.C1554T						PASS	.	C		765,3635	305.5+/-289.0	68,629,1503	118	97	104		1554	3	0.5	11	dbSNP_120	104	2127,6461	352.2+/-328.6	258,1611,2425	no	coding-synonymous	IGHMBP2	NM_002180.2		326,2240,3928	TT,TC,CC		24.7671,17.3864,22.2667		518/994	68701948	2892,10096	2200	4294	6494	SO:0001819	synonymous_variant	3508	exon11			CCTCGTCAGTTTG	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1554C>T	11.37:g.68701948C>T		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	182	88	0.483516	NM_002180	A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	CCDS8187.1																																																																																			C|0.805;T|0.195	0.195	strong		0.582	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		T	68701948	C	T	68701948	2	4	23	1	0	0	0	0	0	0	0	1	7591	813	29	2		2	IGHMBP2	11	68701948	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19546	68701948	66304568	2830	19286										
MRGPRD	116512	hgsc.bcm.edu	37	chr11	68747529	68747529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcccacggtgggcgtctcCccaccttccagctcgggctc	12	18	1	0	rs138573323	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68747529C>T	ENST00000309106.3	-	1	926	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	309						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGCGTCTCCCCACCTTCCA	0.682													C|||	32	0.00638978	0.0008	0.0173	5008	,	,		14707	0.0		0.0179	False		,,,				2504	0.001				p.G309G		Atlas-SNP	.											.	MRGPRD	53	.	0			c.G927A						PASS	.	C		12,4272		0,12,2130	25	31	29		927	0.2	0	11	dbSNP_134	29	133,8199		1,131,4034	no	coding-synonymous	MRGPRD	NM_198923.2		1,143,6164	TT,TC,CC		1.5963,0.2801,1.1493		309/322	68747529	145,12471	2142	4166	6308	SO:0001819	synonymous_variant	116512	exon1			CGTCTCCCCACCT	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.927G>A	11.37:g.68747529C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	82	37	0.451219	NM_198923	Q8NGK7	Silent	SNP	ENST00000309106.3	37	CCDS31625.1																																																																																			C|0.989;T|0.011	0.011	strong		0.682	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		T	68747529	C	T	68747529	2	4	23	1	0	0	0	0	0	0	0	1	9763	610	22	2		2	MRGPRD	11	68747529	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45581	68747529	66258987	2831	19287										
MRGPRF	116535	hgsc.bcm.edu	37	chr11	68772925	68772925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagacgatgggcttggcgcTgctgttgatgcagatgcaca	15	8	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68772925T>C	ENST00000309099.6	-	3	1235	c.853A>G	c.(853-855)Agc>Ggc	p.S285G	MRGPRF_ENST00000441623.1_Missense_Mutation_p.S285G|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	285						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTTGGCGCTGCTGTTGATG	0.642																																					p.S285G		Atlas-SNP	.											MRGPRF,rectum,carcinoma,+2,1	MRGPRF	22	1	0			c.A853G						scavenged	.						34	27	29					11																	68772925		2195	4289	6484	SO:0001583	missense	116535	exon3			TGGCGCTGCTGTT	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.853A>G	11.37:g.68772925T>C	ENSP00000309782:p.Ser285Gly	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	137	2	0.0145985	NM_001098515	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489496	0.44249	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.37915	1.17;1.17	5.25	-3.55	0.04639	GPCR, rhodopsin-like superfamily (1);	0.246864	0.28933	N	0.013663	T	0.29716	0.0742	M	0.78916	2.43	0.32093	N	0.591644	B	0.06786	0.001	B	0.01281	0.0	T	0.10019	-1.0648	10	0.59425	D	0.04	-10.9422	3.3026	0.06988	0.4245:0.2545:0.0:0.321	.	285	Q96AM1	MRGRF_HUMAN	G	285;285;257	ENSP00000403660:S285G;ENSP00000309782:S285G	ENSP00000309782:S285G	S	-	1	0	MRGPRF	68529501	0.811000	0.29063	0.981000	0.43875	0.977000	0.68977	-0.343000	0.07791	-0.570000	0.06022	0.459000	0.35465	AGC	.	.	none		0.642	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		C	68772925	T	C	68772925	3	2	23	1	0	0	0	0	1	0	0	0	9765	1580	55	3	182	3	MRGPRF	11	68772925	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	25396	68772925	66233591	2832	19288										
MRGPRF	116535	hgsc.bcm.edu	37	chr11	68773089	68773089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttggcagagcgctggcgcCgtcgggcccggcactccacg	16	16	0	1	rs151254404		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68773089C>T	ENST00000309099.6	-	3	1071	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	MRGPRF_ENST00000441623.1_Missense_Mutation_p.R230Q|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	230						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCTGGCGCCGTCGGGCCCG	0.627																																					p.R230Q		Atlas-SNP	.											.	MRGPRF	22	.	0			c.G689A						PASS	.	C	GLN/ARG,GLN/ARG	0,4368		0,0,2184	33	26	28		689,689	3.3	0.9	11	dbSNP_134	28	4,8528		0,4,4262	yes	missense,missense	MRGPRF	NM_001098515.1,NM_145015.4	43,43	0,4,6446	TT,TC,CC		0.0469,0.0,0.031	probably-damaging,probably-damaging	230/344,230/344	68773089	4,12896	2184	4266	6450	SO:0001583	missense	116535	exon3			TGGCGCCGTCGGG	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.689G>A	11.37:g.68773089C>T	ENSP00000309782:p.Arg230Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	118	56	0.474576	NM_001098515	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103907	0.37145	0.0	4.69E-4	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.43294	0.95;0.95	5.25	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	N	0.001445	T	0.27765	0.0683	L	0.54323	1.7	0.25460	N	0.987926	P	0.38827	0.649	B	0.30572	0.117	T	0.10917	-1.0609	10	0.14656	T	0.56	-24.2612	6.393	0.21597	0.0:0.7165:0.1856:0.0979	.	230	Q96AM1	MRGRF_HUMAN	Q	230;230;202	ENSP00000403660:R230Q;ENSP00000309782:R230Q	ENSP00000309782:R230Q	R	-	2	0	MRGPRF	68529665	0.064000	0.20934	0.913000	0.36048	0.963000	0.63663	0.101000	0.15251	1.215000	0.43411	0.561000	0.74099	CGG	C|1.000;T|0.000	0.000	weak		0.627	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		T	68773089	C	T	68773089	3	4	23	1	0	0	0	0	1	0	0	0	9765	652	23	1	346	1	MRGPRF	11	68773089	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	164	68773089	66233427	2833	19289										
MRGPRF	116535	hgsc.bcm.edu	37	chr11	68773403	68773403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacgccggtaaggaacatGcagagccccaggacccggca	12	15	1	1	rs11544722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:68773403G>A	ENST00000309099.6	-	3	757	c.375C>T	c.(373-375)tgC>tgT	p.C125C	MRGPRF_ENST00000441623.1_Silent_p.C125C|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	125						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TAAGGAACATGCAGAGCCCCA	0.687													G|||	1164	0.232428	0.2065	0.1354	5008	,	,		14674	0.2272		0.2694	False		,,,				2504	0.3037				p.C125C		Atlas-SNP	.											.	MRGPRF	22	.	0			c.C375T						PASS	.	G	,	885,3459		100,685,1387	21	21	21		375,375	2.7	0.8	11	dbSNP_120	21	2185,6331		295,1595,2368	no	coding-synonymous,coding-synonymous	MRGPRF	NM_001098515.1,NM_145015.4	,	395,2280,3755	AA,AG,GG		25.6576,20.3729,23.8725	,	125/344,125/344	68773403	3070,9790	2172	4258	6430	SO:0001819	synonymous_variant	116535	exon3			GAACATGCAGAGC	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.375C>T	11.37:g.68773403G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	34	19	0.558824	NM_001098515	B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	CCDS8188.1																																																																																			G|0.763;A|0.237	0.237	strong		0.687	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		A	68773403	G	A	68773403	2	1	23	1	0	0	0	0	0	0	0	1	9765	1311	46	2		2	MRGPRF	11	68773403	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	314	68773403	66233113	2834	19290										
MYEOV	26579	hgsc.bcm.edu	37	chr11	69063393	69063393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggagtcagtctgcaagggTggtgggcgttgctcacctgg	18	8	3	0	rs7103126	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:69063393T>C	ENST00000308946.3	+	3	926	c.476T>C	c.(475-477)gTg>gCg	p.V159A	MYEOV_ENST00000535407.1_Missense_Mutation_p.V101A|MYEOV_ENST00000441339.2_Missense_Mutation_p.V159A	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	159			V -> A (in dbSNP:rs7103126). {ECO:0000269|PubMed:10753852, ECO:0000269|PubMed:15489334}.							endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TCTGCAAGGGTGGTGGGCGTT	0.612													C|||	2278	0.454872	0.8533	0.1916	5008	,	,		17638	0.4643		0.169	False		,,,				2504	0.3875				p.V159A		Atlas-SNP	.											.	MYEOV	42	.	0			c.T476C						PASS	.	C	ALA/VAL	3177,1223	422.1+/-339.6	1163,851,186	225	220	221		476	-1.7	0	11	dbSNP_116	221	1513,7075	748.0+/-407.3	122,1269,2903	yes	missense	MYEOV	NM_138768.2	64	1285,2120,3089	CC,CT,TT		17.6176,27.7955,36.1103	benign	159/314	69063393	4690,8298	2200	4294	6494	SO:0001583	missense	26579	exon3			CAAGGGTGGTGGG	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.476T>C	11.37:g.69063393T>C	ENSP00000308330:p.Val159Ala	Somatic	302	0	0		WXS	Illumina HiSeq	Phase_I	261	107	0.409962	NM_138768	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	873	0.39972527472527475	403	0.8191056910569106	75	0.20718232044198895	271	0.4737762237762238	124	0.16358839050131926	C	1.627	-0.520073	0.04171	0.722045	0.176176	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24151	1.87;1.87;1.87	0.867	-1.73	0.08081	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	8	0.87932	D	0	.	5.5594	0.17135	0.0:0.4281:0.0:0.5719	rs7103126;rs17675255;rs17845310;rs17858148;rs61028296;rs7103126	159	Q96EZ4	MYEOV_HUMAN	A	159;159;101	ENSP00000412482:V159A;ENSP00000308330:V159A;ENSP00000438100:V101A	ENSP00000308330:V159A	V	+	2	0	MYEOV	68819969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.270000	0.00262	-1.628000	0.01548	-1.554000	0.00893	GTG	T|0.606;C|0.394	0.394	strong		0.612	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			C	69063393	T	C	69063393	3	2	23	1	0	0	0	0	1	0	0	0	10025	1696	59	2	482	2	MYEOV	11	69063393	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	289990	69063393	65943123	2835	19291										
MYEOV	26579	hgsc.bcm.edu	37	chr11	69063527	69063527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgaatggatgtggctctgCgctcacctgggcgaggactt	15	11	2	0	rs150423809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:69063527C>T	ENST00000308946.3	+	3	1060	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	MYEOV_ENST00000535407.1_Missense_Mutation_p.R146C|MYEOV_ENST00000441339.2_Missense_Mutation_p.R204C	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	204										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGTGGCTCTGCGCTCACCTGG	0.612													C|||	14	0.00279553	0.0053	0.0014	5008	,	,		17375	0.003		0.001	False		,,,				2504	0.002				p.R204C		Atlas-SNP	.											.	MYEOV	42	.	0			c.C610T						PASS	.	C	CYS/ARG	16,4384	22.3+/-47.3	0,16,2184	119	110	113		610	-2.1	0	11	dbSNP_134	113	23,8565	15.3+/-51.7	0,23,4271	yes	missense	MYEOV	NM_138768.2	180	0,39,6455	TT,TC,CC		0.2678,0.3636,0.3003	benign	204/314	69063527	39,12949	2200	4294	6494	SO:0001583	missense	26579	exon3			GCTCTGCGCTCAC	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.610C>T	11.37:g.69063527C>T	ENSP00000308330:p.Arg204Cys	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	163	78	0.478528	NM_138768	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	3.332	-0.136467	0.06711	0.003636	0.002678	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25912	1.78;1.78;1.77	1.05	-2.1	0.07210	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	9	0.87932	D	0	.	1.8279	0.03125	0.1693:0.4544:0.198:0.1782	.	204	Q96EZ4	MYEOV_HUMAN	C	204;204;146	ENSP00000412482:R204C;ENSP00000308330:R204C;ENSP00000438100:R146C	ENSP00000308330:R204C	R	+	1	0	MYEOV	68820103	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.662000	0.01970	-3.192000	0.00219	-2.087000	0.00375	CGC	C|0.998;T|0.002	0.002	strong		0.612	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			T	69063527	C	T	69063527	3	4	23	1	0	0	0	0	1	0	0	0	10025	768	27	1	616	1	MYEOV	11	69063527	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	134	69063527	65942989	2836	19292										
MYEOV	26579	hgsc.bcm.edu	37	chr11	69063726	69063726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgactgttgaggccctggGggggtggcgcatgggagtta	20	6	0	2	rs142581206	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:69063726G>T	ENST00000308946.3	+	3	1259	c.809G>T	c.(808-810)gGg>gTg	p.G270V	MYEOV_ENST00000535407.1_Missense_Mutation_p.G212V|MYEOV_ENST00000441339.2_Missense_Mutation_p.G270V	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	270										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GAGGCCCTGGGGGGGTGGCGC	0.677													G|||	14	0.00279553	0.0053	0.0014	5008	,	,		15577	0.003		0.001	False		,,,				2504	0.002				p.G270V		Atlas-SNP	.											MYEOV,NS,carcinoma,-1,1	MYEOV	42	1	0			c.G809T						PASS	.	G	VAL/GLY	16,4384	21.2+/-45.6	0,16,2184	45	48	47		809	-0.7	0	11	dbSNP_134	47	22,8566	14.6+/-50.1	0,22,4272	yes	missense	MYEOV	NM_138768.2	109	0,38,6456	TT,TG,GG		0.2562,0.3636,0.2926	possibly-damaging	270/314	69063726	38,12950	2200	4294	6494	SO:0001583	missense	26579	exon3			CCCTGGGGGGGTG	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.809G>T	11.37:g.69063726G>T	ENSP00000308330:p.Gly270Val	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	117	57	0.487179	NM_138768	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	7.338	0.620407	0.14193	0.003636	0.002562	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.28666	1.61;1.61;1.6	1.59	-0.717	0.11208	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	P	0.49185	0.92	B	0.39805	0.31	T	0.16600	-1.0397	9	0.87932	D	0	.	7.0401	0.25015	0.0:0.5665:0.4335:0.0	.	270	Q96EZ4	MYEOV_HUMAN	V	270;270;212	ENSP00000412482:G270V;ENSP00000308330:G270V;ENSP00000438100:G212V	ENSP00000308330:G270V	G	+	2	0	MYEOV	68820302	0.031000	0.19500	0.000000	0.03702	0.002000	0.02628	0.630000	0.24553	-0.188000	0.10499	0.491000	0.48974	GGG	G|0.998;T|0.002	0.002	strong		0.677	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			T	69063726	G	T	69063726	3	4	23	1	0	0	0	0	1	0	0	0	10025	1232	43	4	815	4	MYEOV	11	69063726	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	199	69063726	65942790	2837	19293										
CCND1	595	hgsc.bcm.edu	37	chr11	69457987	69457987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagctgtgcatctacaccgaCaactccatccggcccgagga	9	15	1	0	rs371689281		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:69457987C>T	ENST00000227507.2	+	2	614	c.387C>T	c.(385-387)gaC>gaT	p.D129D	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	129	Cyclin N-terminal.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCTACACCGACAACTCCATCC	0.687			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											p.D129D	Pancreas(65;393 884 2788 21700 24360 27795 36895)	Atlas-SNP	.		Dom	yes		11	11q13	595	cyclin D1		"L, E"	.	CCND1	107	.	0			c.C387T						PASS	.	C		0,4378		0,0,2189	38	36	37		387	3.7	1	11		37	2,8578		0,2,4288	no	coding-synonymous	CCND1	NM_053056.2		0,2,6477	TT,TC,CC		0.0233,0.0,0.0154		129/296	69457987	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	595	exon2			CACCGACAACTCC	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.387C>T	11.37:g.69457987C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_053056	Q6LEF0	Silent	SNP	ENST00000227507.2	37	CCDS8191.1																																																																																			.	.	weak		0.687	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		T	69457987	C	T	69457987	2	4	23	1	0	0	0	0	0	0	0	1	2916	477	17	2		2	CCND1	11	69457987	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	394261	69457987	65548529	2838	19294										
FGF3	2248	hgsc.bcm.edu	37	chr11	69625385	69625385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccaggcgtactagacacCgtccggtacagccgggaggc	14	15	0	1	rs35420992	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:69625385C>T	ENST00000334134.2	-	3	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	136					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TACTAGACACCGTCCGGTACA	0.647													C|||	261	0.0521166	0.0386	0.0274	5008	,	,		15484	0.0159		0.0954	False		,,,				2504	0.0808				p.T136T		Atlas-SNP	.											.	FGF3	27	.	0			c.G408A						PASS	.	C		196,4200		4,188,2006	32	39	36		408	-2.8	0	11	dbSNP_126	36	895,7689		56,783,3453	no	coding-synonymous	FGF3	NM_005247.2		60,971,5459	TT,TC,CC		10.4264,4.4586,8.4052		136/240	69625385	1091,11889	2198	4292	6490	SO:0001819	synonymous_variant	2248	exon3			AGACACCGTCCGG		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.408G>A	11.37:g.69625385C>T		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	184	75	0.407609	NM_005247	Q0VG69	Silent	SNP	ENST00000334134.2	37	CCDS8195.1																																																																																			C|0.931;T|0.069	0.069	strong		0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		T	69625385	C	T	69625385	2	4	23	1	0	0	0	0	0	0	0	1	5853	639	23	1		1	FGF3	11	69625385	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	167398	69625385	65381131	2839	19295										
CTTN	2017	hgsc.bcm.edu	37	chr11	70253475	70253475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggccgatgactgggagacCgaccctgattttgtggtagg	17	8	0	3	rs2298397	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:70253475C>T	ENST00000301843.8	+	3	278	c.72C>T	c.(70-72)acC>acT	p.T24T	CTTN_ENST00000346329.3_Silent_p.T24T|CTTN_ENST00000376561.3_Silent_p.T24T|CTTN_ENST00000527622.1_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	24					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACTGGGAGACCGACCCTGATT	0.572													C|||	706	0.140974	0.0325	0.2651	5008	,	,		16440	0.1062		0.2376	False		,,,				2504	0.136				p.T24T		Atlas-SNP	.											.	CTTN	162	.	0			c.C72T						PASS	.	C	,,	356,4002		15,326,1838	21	23	22		72,72,72	-11	0.1	11	dbSNP_100	22	1849,6689		197,1455,2617	no	coding-synonymous,coding-synonymous,coding-synonymous	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	,,	212,1781,4455	TT,TC,CC		21.6561,8.1689,17.0983	,,	24/635,24/551,24/514	70253475	2205,10691	2179	4269	6448	SO:0001819	synonymous_variant	2017	exon3			GGAGACCGACCCT	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.72C>T	11.37:g.70253475C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	67	22	0.328358	NM_001184740	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1	356	0.163003663003663	20	0.04065040650406504	89	0.24585635359116023	67	0.11713286713286714	180	0.23746701846965698	C	4.787	0.146369	0.09134	0.081689	0.216561	ENSG00000085733	ENST00000415461	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999998	.	.	.	.	.	.	T	0.11767	-1.0574	3	.	.	.	-39.5588	1.2588	0.01997	0.271:0.1249:0.1798:0.4243	rs2298397;rs3209200;rs11546011;rs17334986;rs17410320;rs2298397	.	.	.	L	6	.	.	P	+	2	0	CTTN	69931123	0.000000	0.05858	0.084000	0.20598	0.566000	0.35808	-4.692000	0.00198	-3.381000	0.00175	-0.749000	0.03505	CCG	C|0.847;T|0.153	0.153	strong		0.572	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		T	70253475	C	T	70253475	2	4	23	1	0	0	0	0	0	0	0	1	4044	639	23	1		1	CTTN	11	70253475	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	628090	70253475	64753041	2840	19296										
KRTAP5-7	440050	hgsc.bcm.edu	37	chr11	71238453	71238453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggatgtggctccagctgctGtgtgcccgtctgctgctgca	15	12	1	0	rs147685834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71238453G>C	ENST00000398536.4	+	1	141	c.107G>C	c.(106-108)tGt>tCt	p.C36S		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	36	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TCCAGCTGCTGTGTGCCCGTC	0.682													g|||	1257	0.250998	0.2088	0.2233	5008	,	,		10723	0.2877		0.1918	False		,,,				2504	0.3507				p.C36S		Atlas-SNP	.											KRTAP5-7,NS,carcinoma,0,1	KRTAP5-7	23	1	0			c.G107C						PASS	.	G	SER/CYS	856,3544		65,726,1409	69	90	83		107	1.8	1	11	dbSNP_134	83	1314,7270		110,1094,3088	no	missense	KRTAP5-7	NM_001012503.1	112	175,1820,4497	CC,CG,GG		15.3075,19.4545,16.7129	possibly-damaging	36/166	71238453	2170,10814	2200	4292	6492	SO:0001583	missense	440050	exon1			GCTGCTGTGTGCC	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.107G>C	11.37:g.71238453G>C	ENSP00000417330:p.Cys36Ser	Somatic	277	1	0.00361011		WXS	Illumina HiSeq	Phase_I	252	121	0.480159	NM_001012503	B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	497	0.22756410256410256	100	0.2032520325203252	86	0.23756906077348067	173	0.30244755244755245	138	0.1820580474934037	N	6.704	0.498625	0.12762	0.194545	0.153075	ENSG00000244411	ENST00000398536	T	0.01397	4.94	1.8	1.8	0.24995	.	.	.	.	.	T	0.00012	0.0000	M	0.89658	3.05	0.43608	P	0.004022999999999999	P	0.47106	0.89	P	0.54965	0.765	T	0.33624	-0.9861	8	0.54805	T	0.06	.	7.1256	0.25469	0.0:0.0:1.0:0.0	.	36	Q6L8G8	KRA57_HUMAN	S	36	ENSP00000417330:C36S	ENSP00000417330:C36S	C	+	2	0	KRTAP5-7	70916101	1.000000	0.71417	0.978000	0.43139	0.179000	0.23085	3.185000	0.50934	1.345000	0.45676	0.281000	0.19383	TGT	G|0.807;C|0.193	0.193	strong		0.682	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			C	71238453	G	C	71238453	3	2	23	1	0	0	0	0	1	0	0	0	8566	1377	48	4	109	4	KRTAP5-7	11	71238453	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	984978	71238453	63768063	2841	19297										
KRTAP5-8	57830	hgsc.bcm.edu	37	chr11	71249605	71249605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgccagtccagctgctgCaagccctgctgttcccagtc	10	16	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71249605C>T	ENST00000398534.3	+	1	535	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	168	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCAGCTGCTGCAAGCCCTGCT	0.592																																					p.C168C		Atlas-SNP	.											.	KRTAP5-8	28	.	0			c.C504T						PASS	.						134	144	141					11																	71249605		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CTGCTGCAAGCCC	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.504C>T	11.37:g.71249605C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	136	13	0.0955882	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																			.	.	none		0.592	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249605	C	T	71249605	2	4	23	1	0	0	0	0	0	0	0	1	8567	718	25	2		2	KRTAP5-8	11	71249605	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11152	71249605	63756911	2842	19298										
KRTAP5-9	3846	hgsc.bcm.edu	37	chr11	71259822	71259822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctgctgtgcacccgtctActgctgcaagcccgtgtgct	11	15	1	0	rs10792769	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71259822A>G	ENST00000528743.2	+	1	357	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	40	8 X 4 AA repeats of C-C-X-P.		Y -> C (in dbSNP:rs10792769). {ECO:0000269|Ref.3}.		epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCACCCGTCTACTGCTGCAAG	0.662													N|||	989	0.197484	0.4062	0.1455	5008	,	,		17872	0.1329		0.1362	False		,,,				2504	0.0818				p.Y40C		Atlas-SNP	.											.	KRTAP5-9	19	.	0			c.A119G						PASS	.	G	CYS/TYR	1598,2802		316,966,918	83	94	90		119	1.6	0.9	11	dbSNP_120	90	1063,7525		68,927,3299	no	missense	KRTAP5-9	NM_005553.3	194	384,1893,4217	GG,GA,AA		12.3777,36.3182,20.4881	benign	40/170	71259822	2661,10327	2200	4294	6494	SO:0001583	missense	3846	exon1			CCGTCTACTGCTG	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.119A>G	11.37:g.71259822A>G	ENSP00000431443:p.Tyr40Cys	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	242	120	0.495868	NM_005553	Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	CCDS53677.1	400	0.18315018315018314	178	0.3617886178861789	51	0.1408839779005525	70	0.12237762237762238	101	0.13324538258575197	N	6.676	0.493371	0.12702	0.363182	0.123777	ENSG00000254997	ENST00000528743	T	0.02579	4.24	1.57	1.57	0.23409	.	.	.	.	.	T	0.00012	0.0000	N	0.00004	-3.37	0.48236	P	3.8800000000005497E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.42982	-0.9419	8	0.02654	T	1	.	4.1148	0.10076	0.3975:0.0:0.6025:0.0	rs10792769;rs10792769	40	P26371	KRA59_HUMAN	C	40	ENSP00000431443:Y40C	ENSP00000431443:Y40C	Y	+	2	0	KRTAP5-9	70937470	0.994000	0.37717	0.931000	0.37212	0.616000	0.37450	0.754000	0.26390	0.236000	0.21180	-0.391000	0.06502	TAC	A|0.819;G|0.181	0.181	strong		0.662	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			G	71259822	A	G	71259822	3	3	23	1	0	0	0	0	1	0	0	0	8568	391	14	2	121	2	KRTAP5-9	11	71259822	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10217	71259822	63746694	2843	19299										
KRTAP5-10	387273	hgsc.bcm.edu	37	chr11	71277083	71277083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgtaagccctgctgctgCtcctcaggctgtggatcctg	12	13	1	0	rs146926834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71277083C>T	ENST00000398531.1	+	1	475	c.450C>T	c.(448-450)tgC>tgT	p.C150C	KRTAP5-10_ENST00000376536.4_Silent_p.C102C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	150	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						Cctgctgctgctcctcaggct	0.632													c|||	231	0.0461262	0.0023	0.0187	5008	,	,		12160	0.1052		0.0348	False		,,,				2504	0.0757				p.C150C		Atlas-SNP	.											.	KRTAP5-10	37	.	0			c.C450T						PASS	.	C		44,4356		0,44,2156	86	105	99		450	-1.7	0	11	dbSNP_134	99	282,8304		3,276,4014	no	coding-synonymous	KRTAP5-10	NM_001012710.1		3,320,6170	TT,TC,CC		3.2844,1.0,2.5104		150/203	71277083	326,12660	2200	4293	6493	SO:0001819	synonymous_variant	387273	exon1			CTGCTGCTCCTCA	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.450C>T	11.37:g.71277083C>T		Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	231	123	0.532468	NM_001012710	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																			C|0.959;T|0.041	0.041	strong		0.632	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			T	71277083	C	T	71277083	2	4	23	1	0	0	0	0	0	0	0	1	8559	805	28	2		2	KRTAP5-10	11	71277083	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17261	71277083	63729433	2844	19300										
RNF121	55298	hgsc.bcm.edu	37	chr11	71701763	71701763	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacatggcatctaccataggGgtaagttcatccgggttctt	10	9	3	0	rs35844388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71701763G>A	ENST00000361756.3	+	6	988	c.627G>A	c.(625-627)ggG>ggA	p.G209G	RNF121_ENST00000530137.1_Splice_Site_p.G177G|RNF121_ENST00000545854.1_Splice_Site_p.G128G|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Splice_Site_p.G177G|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	209						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTACCATAGGGGTAAGTTCAT	0.448													G|||	202	0.0403355	0.0068	0.0403	5008	,	,		21247	0.0833		0.0358	False		,,,				2504	0.046				p.G209G		Atlas-SNP	.											.	RNF121	19	.	0			c.G627A						PASS	.	G		35,4365	39.2+/-71.8	0,35,2165	172	179	176		627	4.2	1	11	dbSNP_126	176	237,8349	95.9+/-157.7	4,229,4060	yes	coding-synonymous-near-splice	RNF121	NM_018320.4		4,264,6225	AA,AG,GG		2.7603,0.7955,2.0946		209/328	71701763	272,12714	2200	4293	6493	SO:0001630	splice_region_variant	55298	exon6			CATAGGGGTAAGT	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.627+1G>A	11.37:g.71701763G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	120	58	0.483333	NM_018320	B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	CCDS8203.1																																																																																			G|0.972;A|0.028	0.028	strong		0.448	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320	Silent	A	71701763	G	A	71701763	5	1	23	1	0	0	0	0	0	0	1	0	13431	1246	43	2	649	2	RNF121	11	71701763	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	424680	71701763	63304753	2845	19301										
RNF121	55298	hgsc.bcm.edu	37	chr11	71706544	71706544	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcatcgtgggaaagaagcaAacgtgtccctactgcaaaga	11	9	0	2	rs34075366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71706544A>G	ENST00000361756.3	+	8	1171	c.810A>G	c.(808-810)caA>caG	p.Q270Q	RNF121_ENST00000530137.1_Silent_p.Q238Q|RNF121_ENST00000545854.1_Silent_p.Q189Q|RNF121_ENST00000393713.3_Missense_Mutation_p.K197R|RNF121_ENST00000533380.1_Silent_p.Q110Q	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	270						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GAAAGAAGCAAACGTGTCCCT	0.552													G|||	245	0.0489217	0.0287	0.0432	5008	,	,		20900	0.0883		0.0388	False		,,,				2504	0.0501				p.Q270Q		Atlas-SNP	.											.	RNF121	19	.	0			c.A810G						PASS	.	G		97,4303		0,97,2103	160	122	135		810	6.1	1	11	dbSNP_126	135	257,8329		3,251,4039	no	coding-synonymous	RNF121	NM_018320.4		3,348,6142	GG,GA,AA		2.9932,2.2045,2.726		270/328	71706544	354,12632	2200	4293	6493	SO:0001819	synonymous_variant	55298	exon8			GAAGCAAACGTGT	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.810A>G	11.37:g.71706544A>G		Somatic	257	1	0.00389105		WXS	Illumina HiSeq	Phase_I	219	108	0.493151	NM_018320	B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	CCDS8203.1	116	0.05311355311355311	24	0.04878048780487805	15	0.04143646408839779	53	0.09265734265734266	24	0.0316622691292876	G	19.36	3.813521	0.70912	0.022045	0.029932	ENSG00000137522	ENST00000393713	T	0.48201	0.82	6.06	6.06	0.98353	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.00591	-1.1655	8	0.54805	T	0.06	-5.8447	14.5636	0.68159	0.0708:0.0:0.9292:0.0	rs34075366	197	C9JQY5	.	R	197	ENSP00000377316:K197R	ENSP00000377316:K197R	K	+	2	0	RNF121	71384192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.411000	0.80078	1.593000	0.50029	-0.119000	0.15052	AAA	A|0.964;G|0.036	0.036	strong		0.552	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		G	71706544	A	G	71706544	2	3	23	1	0	0	0	0	0	0	0	1	13431	11	1	2		2	RNF121	11	71706544	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4781	71706544	63299972	2846	19302										
NUMA1	4926	hgsc.bcm.edu	37	chr11	71717106	71717106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggccccactggacaccccGgcctgggaacgacgagcaga	15	15	0	1	rs61745941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71717106G>A	ENST00000393695.3	-	22	5998	c.5667C>T	c.(5665-5667)gcC>gcT	p.A1889A	NUMA1_ENST00000351960.6_Silent_p.A753A|NUMA1_ENST00000358965.6_Silent_p.A1875A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGACACCCCGGCCTGGGAAC	0.597			T	RARA	APL								G|||	219	0.04373	0.0189	0.0447	5008	,	,		18923	0.0823		0.0348	False		,,,				2504	0.046				p.A1889A		Atlas-SNP	.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1	142	.	0			c.C5667T						PASS	.	G		80,4320	67.0+/-104.6	1,78,2121	58	69	65		5667	-10.2	0.1	11	dbSNP_129	65	235,8351	93.1+/-155.1	4,227,4062	no	coding-synonymous	NUMA1	NM_006185.2		5,305,6183	AA,AG,GG		2.737,1.8182,2.4257		1889/2116	71717106	315,12671	2200	4293	6493	SO:0001819	synonymous_variant	4926	exon22			CACCCCGGCCTGG	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5667C>T	11.37:g.71717106G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	84	34	0.404762	NM_006185		Silent	SNP	ENST00000393695.3	37	CCDS31633.1	104	0.047619047619047616	17	0.034552845528455285	15	0.04143646408839779	49	0.08566433566433566	23	0.030343007915567283	G	6.573	0.474061	0.12521	0.018182	0.02737	ENSG00000137497	ENST00000541584	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.43271	D	0.995225	.	.	.	.	.	.	T	0.56505	-0.7968	4	.	.	.	.	10.9463	0.47301	0.1966:0.0869:0.6301:0.0864	rs61745941	.	.	.	L	738	.	.	P	-	2	0	NUMA1	71394754	0.055000	0.20627	0.086000	0.20670	0.764000	0.43329	-1.306000	0.02735	-2.382000	0.00593	-1.202000	0.01658	CCG	G|0.969;A|0.031	0.031	strong		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			A	71717106	G	A	71717106	2	1	23	1	0	0	0	0	0	0	0	1	10750	1103	39	1		1	NUMA1	11	71717106	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10562	71717106	63289410	2847	19303										
C11orf51	25906	hgsc.bcm.edu	37	chr11	71821236	71821236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcttcactatcctcatcAtcttcatcatcctcttcttc	0	17	9	0	rs17161980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:71821236A>G	ENST00000227618.4	-	5	441	c.216T>C	c.(214-216)gaT>gaC	p.D72D	ANAPC15_ENST00000538393.1_Silent_p.D72D|ANAPC15_ENST00000538919.1_Silent_p.D72D|ANAPC15_ENST00000542531.1_Silent_p.D72D|ANAPC15_ENST00000543050.1_Silent_p.D72D|ANAPC15_ENST00000535503.1_Silent_p.D72D|ANAPC15_ENST00000535234.1_Silent_p.D72D|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000543587.1_Silent_p.D72D|ANAPC15_ENST00000545680.1_Silent_p.D72D|ANAPC15_ENST00000543015.1_5'UTR|ANAPC15_ENST00000502597.2_5'UTR|LRTOMT_ENST00000435085.1_3'UTR|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000545944.1_Silent_p.D72D	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	72	Asp-rich.				mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											tatcctcatcatcttcatcat	0.498													g|||	873	0.174321	0.208	0.1974	5008	,	,		23194	0.2242		0.0596	False		,,,				2504	0.1789				p.D72D		Atlas-SNP	.											.	.	.	.	0			c.T216C						PASS	.	G	,	819,3581	749.0+/-412.0	71,677,1452	329	281	297		,216	-5.3	0.5	11	dbSNP_123	297	451,8135	798.5+/-407.4	13,425,3855	no	utr-3,coding-synonymous	C11orf51,LRTOMT	NM_001145308.2,NM_014042.2	,	84,1102,5307	GG,GA,AA		5.2527,18.6136,9.7798	,	,72/122	71821236	1270,11716	2200	4293	6493	SO:0001819	synonymous_variant	25906	exon5			CTCATCATCTTCA	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.216T>C	11.37:g.71821236A>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	190	84	0.442105	NM_014042	G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	CCDS8210.1																																																																																			A|0.864;G|0.136	0.136	strong		0.498	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		G	71821236	A	G	71821236	2	3	23	1	0	0	0	0	0	0	0	1	1646	214	8	2		2	C11orf51	11	71821236	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	104130	71821236	63185280	2848	19304										
PDE2A	5138	hgsc.bcm.edu	37	chr11	72288599	72288599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggttggaggccacgcgctcGtacagctctgccgctttggg	15	13	1	0	rs1980091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:72288599G>A	ENST00000334456.5	-	31	2900	c.2655C>T	c.(2653-2655)taC>taT	p.Y885Y	PDE2A_ENST00000376450.3_Silent_p.Y629Y|PDE2A_ENST00000544570.1_Silent_p.Y878Y|PDE2A_ENST00000444035.2_Silent_p.Y876Y|PDE2A_ENST00000540345.1_Silent_p.Y876Y|PDE2A_ENST00000418754.2_Silent_p.Y770Y	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	885	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCACGCGCTCGTACAGCTCTG	0.612													G|||	1435	0.286542	0.2526	0.245	5008	,	,		19145	0.2758		0.3082	False		,,,				2504	0.3507				p.Y885Y		Atlas-SNP	.											PDE2A,NS,adenoma,0,1	PDE2A	156	1	0			c.C2655T						scavenged	.	G	,,	1182,3218	415.7+/-337.3	146,890,1164	93	73	80		2634,2628,2655	-5	1	11	dbSNP_92	80	2616,5970	421.9+/-353.9	399,1818,2076	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE2A	NM_001143839.3,NM_001146209.2,NM_002599.4	,,	545,2708,3240	AA,AG,GG		30.4682,26.8636,29.2469	,,	878/935,876/933,885/942	72288599	3798,9188	2200	4293	6493	SO:0001819	synonymous_variant	5138	exon31			GCGCTCGTACAGC	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2655C>T	11.37:g.72288599G>A		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	32	14	0.4375	NM_002599	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	CCDS8216.1																																																																																			G|0.707;A|0.293	0.293	strong		0.612	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		A	72288599	G	A	72288599	2	1	23	1	0	0	0	0	0	0	0	1	11636	1140	40	1		1	PDE2A	11	72288599	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	467363	72288599	62717917	2849	19305										
P4HA3	283208	hgsc.bcm.edu	37	chr11	73988167	73988167	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggtcaccagttttgggtCaacagtgtccttcagccagg	13	10	3	0	rs2282488	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:73988167C>T	ENST00000331597.4	-	9	1243	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	P4HA3_ENST00000427714.2_Missense_Mutation_p.D400N	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	400			D -> N (in dbSNP:rs2282488). {ECO:0000269|PubMed:15489334}.			endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGTTTTGGGTCAACAGTGTCC	0.488													C|||	887	0.177117	0.0991	0.1225	5008	,	,		20531	0.2808		0.161	False		,,,				2504	0.2311				p.D400N		Atlas-SNP	.											.	P4HA3	43	.	0			c.G1198A						PASS	.	C	ASN/ASP	453,3947	217.4+/-235.8	19,415,1766	204	154	171		1198	5.2	1	11	dbSNP_100	171	1235,7351	248.7+/-276.3	94,1047,3152	yes	missense	P4HA3	NM_182904.3	23	113,1462,4918	TT,TC,CC		14.3839,10.2955,12.9986	probably-damaging	400/545	73988167	1688,11298	2200	4293	6493	SO:0001583	missense	283208	exon9			TTGGGTCAACAGT	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1198G>A	11.37:g.73988167C>T	ENSP00000332170:p.Asp400Asn	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	175	172	0.982857	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	392	0.1794871794871795	46	0.09349593495934959	45	0.12430939226519337	169	0.29545454545454547	132	0.1741424802110818	C	12.61	1.989270	0.35131	0.102955	0.143839	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.60548	1.0;0.18	5.2	5.2	0.72013	Prolyl 4-hydroxylase, alpha subunit (1);	0.193816	0.53938	D	0.000051	T	0.00012	0.0000	L	0.47190	1.495	0.36285	P	0.143988	P;B	0.52842	0.956;0.25	P;B	0.45071	0.468;0.067	T	0.21999	-1.0229	9	0.25751	T	0.34	-27.1451	11.8802	0.52571	0.0:0.8246:0.1753:0.0	rs2282488;rs52799645;rs58071724;rs2282488	400;400	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	N	400	ENSP00000332170:D400N;ENSP00000401749:D400N	ENSP00000332170:D400N	D	-	1	0	P4HA3	73665815	0.989000	0.36119	0.998000	0.56505	0.964000	0.63967	2.442000	0.44873	2.691000	0.91804	0.655000	0.94253	GAC	C|0.847;T|0.153	0.153	strong		0.488	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		T	73988167	C	T	73988167	3	4	23	1	0	0	0	0	1	0	0	0	11358	826	29	2	456	2	P4HA3	11	73988167	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1699568	73988167	61018349	2850	19306										
PGM2L1	283209	hgsc.bcm.edu	37	chr11	74109166	74109166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtgtggtagggggcgtggAgcaggttggagttcagatcc	20	6	1	1	rs12049823	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:74109166A>G	ENST00000298198.4	-	1	352	c.41T>C	c.(40-42)cTc>cCc	p.L14P	MIR548AL_ENST00000578416.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.4_ENST00000531906.1_RNA	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	14			L -> P (in dbSNP:rs12049823). {ECO:0000269|PubMed:15489334}.		glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GGGGGCGTGGAGCAGGTTGGA	0.672													A|||	941	0.187899	0.112	0.1311	5008	,	,		13499	0.2669		0.161	False		,,,				2504	0.2771				p.L14P		Atlas-SNP	.											PGM2L1,NS,carcinoma,0,1	PGM2L1	59	1	0			c.T41C						PASS	.	A	PRO/LEU	514,3886	234.6+/-247.4	28,458,1714	124	113	117		41	3.7	1	11	dbSNP_120	117	1284,7302	253.9+/-279.4	102,1080,3111	yes	missense	PGM2L1	NM_173582.3	98	130,1538,4825	GG,GA,AA		14.9546,11.6818,13.8457	benign	14/623	74109166	1798,11188	2200	4293	6493	SO:0001583	missense	283209	exon1			GCGTGGAGCAGGT	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.41T>C	11.37:g.74109166A>G	ENSP00000298198:p.Leu14Pro	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_173582	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	395	0.18086080586080586	57	0.11585365853658537	46	0.1270718232044199	163	0.28496503496503495	129	0.17018469656992086	A	13.57	2.275855	0.40294	0.116818	0.149546	ENSG00000165434	ENST00000298198	T	0.18174	2.23	4.87	3.72	0.42706	.	0.431607	0.21265	N	0.077402	T	0.00012	0.0000	L	0.52573	1.65	0.19575	P	0.9999695974	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	9	0.62326	D	0.03	-5.4947	5.7867	0.18336	0.8788:0.0:0.1212:0.0	rs12049823;rs17854987;rs61002785;rs12049823	14	Q6PCE3	PGM2L_HUMAN	P	14	ENSP00000298198:L14P	ENSP00000298198:L14P	L	-	2	0	PGM2L1	73786814	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.992000	0.40737	2.037000	0.60232	0.379000	0.24179	CTC	A|0.843;G|0.157	0.157	strong		0.672	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		G	74109166	A	G	74109166	3	3	23	1	0	0	0	0	1	0	0	0	11799	304	11	3	1883	3	PGM2L1	11	74109166	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	120999	74109166	60897350	2851	19307										
ARRB1	408	hgsc.bcm.edu	37	chr11	74994352	74994352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaaggtgaaagggtaagcGtgctcgcccagcttcttgat	12	9	2	2	rs877711	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:74994352G>A	ENST00000420843.2	-	5	430	c.333C>T	c.(331-333)caC>caT	p.H111H	ARRB1_ENST00000360025.3_Silent_p.H111H|ARRB1_ENST00000393505.4_Silent_p.H111H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	111	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AAGGGTAAGCGTGCTCGCCCA	0.612													G|||	824	0.164537	0.1891	0.2651	5008	,	,		17331	0.0982		0.1113	False		,,,				2504	0.183				p.H111H		Atlas-SNP	.											.	ARRB1	37	.	0			c.C333T						PASS	.	G	,	775,3625	311.9+/-292.3	65,645,1490	64	63	64		333,333	-5.7	0.9	11	dbSNP_86	64	959,7627	209.4+/-250.6	53,853,3387	no	coding-synonymous,coding-synonymous	ARRB1	NM_004041.4,NM_020251.3	,	118,1498,4877	AA,AG,GG		11.1693,17.6136,13.3528	,	111/419,111/411	74994352	1734,11252	2200	4293	6493	SO:0001819	synonymous_variant	408	exon5			GTAAGCGTGCTCG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.333C>T	11.37:g.74994352G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	86	45	0.523256	NM_020251	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	CCDS44684.1																																																																																			G|0.862;A|0.138	0.138	strong		0.612	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		A	74994352	G	A	74994352	2	1	23	1	0	0	0	0	0	0	0	1	980	1136	40	1		1	ARRB1	11	74994352	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	885186	74994352	60012164	2852	19308										
GDPD5	81544	hgsc.bcm.edu	37	chr11	75150971	75150971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggtgaaggagaccaggtcGgcagtgacccacatgagaca	15	9	0	4	rs115438239	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:75150971G>A	ENST00000336898.3	-	15	2346	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Silent_p.A503A|GDPD5_ENST00000526177.1_Silent_p.A365A|GDPD5_ENST00000533805.1_Silent_p.A258A|GDPD5_ENST00000533784.1_Silent_p.A384A|GDPD5_ENST00000376282.3_Silent_p.A384A	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	503					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGACCAGGTCGGCAGTGACCC	0.612													G|||	10	0.00199681	0.0008	0.0	5008	,	,		19335	0.003		0.006	False		,,,				2504	0.0				p.A503A		Atlas-SNP	.											.	GDPD5	49	.	0			c.C1509T						PASS	.	G		2,4398	4.2+/-10.8	0,2,2198	124	101	109		1509	-7.7	0.7	11	dbSNP_132	109	27,8559	19.2+/-60.6	0,27,4266	no	coding-synonymous	GDPD5	NM_030792.6		0,29,6464	AA,AG,GG		0.3145,0.0455,0.2233		503/606	75150971	29,12957	2200	4293	6493	SO:0001819	synonymous_variant	81544	exon15			CAGGTCGGCAGTG	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1509C>T	11.37:g.75150971G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	117	62	0.529915	NM_030792	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	CCDS8238.1																																																																																			G|0.997;A|0.003	0.003	strong		0.612	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		A	75150971	G	A	75150971	2	1	23	1	0	0	0	0	0	0	0	1	6327	1103	39	1		1	GDPD5	11	75150971	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	156619	75150971	59855545	2853	19309										
MAP6	4135	hgsc.bcm.edu	37	chr11	75298468	75298468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacaactgcagaatcgtgaAcctttgcatgctctgggact	9	12	1	2	rs61895095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:75298468A>C	ENST00000304771.3	-	4	2828	c.2078T>G	c.(2077-2079)gTt>gGt	p.V693G	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.V364G	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	693	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGAATCGTGAACCTTTGCATG	0.478													A|||	163	0.0325479	0.0272	0.036	5008	,	,		23172	0.0278		0.0636	False		,,,				2504	0.0102				p.V693G	Esophageal Squamous(181;1115 2007 8647 17065 22697)	Atlas-SNP	.											.	MAP6	45	.	0			c.T2078G						PASS	.	A	GLY/VAL	110,4290	86.3+/-125.0	1,108,2091	178	173	175		2078	-8.9	0	11	dbSNP_129	175	409,8177	129.3+/-187.4	10,389,3894	yes	missense	MAP6	NM_033063.1	109	11,497,5985	CC,CA,AA		4.7636,2.5,3.9966	benign	693/814	75298468	519,12467	2200	4293	6493	SO:0001583	missense	4135	exon4			TCGTGAACCTTTG	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2078T>G	11.37:g.75298468A>C	ENSP00000307093:p.Val693Gly	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	174	87	0.5	NM_033063	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	CCDS31641.1	90	0.04120879120879121	15	0.03048780487804878	13	0.03591160220994475	15	0.026223776223776224	47	0.06200527704485488	A	8.664	0.901288	0.17760	0.025	0.047636	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.40476	1.03	4.79	-8.93	0.00771	.	0.894418	0.09480	N	0.796476	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13415	-1.0510	10	0.21540	T	0.41	1.4208	4.0634	0.09849	0.1076:0.4295:0.3:0.1628	rs61895095	693	Q96JE9	MAP6_HUMAN	G	693;364;364	ENSP00000307093:V693G	ENSP00000307093:V693G	V	-	2	0	MAP6	74976116	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-1.691000	0.01920	-1.340000	0.02227	0.533000	0.62120	GTT	A|0.960;C|0.040	0.040	strong		0.478	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		C	75298468	A	C	75298468	3	2	23	1	0	0	0	0	1	0	0	0	9264	43	2	5	367	5	MAP6	11	75298468	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	147497	75298468	59708048	2854	19310										
C11orf30	56946	hgsc.bcm.edu	37	chr11	76257215	76257215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgttcgagtccatccacTgttggctcttccctaacgac	7	15	1	0	rs3753051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:76257215T>C	ENST00000529032.1	+	19	3648	c.3648T>C	c.(3646-3648)acT>acC	p.T1216T	C11orf30_ENST00000525919.1_Silent_p.T1217T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.T1216T|C11orf30_ENST00000524767.1_Silent_p.T1231T|C11orf30_ENST00000533248.1_Silent_p.T1125T|C11orf30_ENST00000525038.1_Silent_p.T1217T|C11orf30_ENST00000524490.1_Silent_p.T1118T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1216					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T1216T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTCCATCCACTGTTGGCTCTT	0.512													T|||	1036	0.206869	0.1815	0.1729	5008	,	,		19992	0.1379		0.3131	False		,,,				2504	0.227				p.T1216T		Atlas-SNP	.											C11orf30,NS,carcinoma,0,1	C11orf30	123	1	1	Substitution - coding silent(1)	stomach(1)	c.T3648C						scavenged	.	T		959,3441	361.9+/-315.9	108,743,1349	86	88	87		3648	4.9	1	11	dbSNP_107	87	2758,5826	439.0+/-359.1	454,1850,1988	no	coding-synonymous	C11orf30	NM_020193.3		562,2593,3337	CC,CT,TT		32.1295,21.7955,28.6275		1216/1323	76257215	3717,9267	2200	4292	6492	SO:0001819	synonymous_variant	56946	exon20			ATCCACTGTTGGC	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3648T>C	11.37:g.76257215T>C		Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	114	56	0.491228	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	CCDS8244.1	466	0.21336996336996336	78	0.15853658536585366	68	0.1878453038674033	83	0.1451048951048951	237	0.31266490765171506	T	3.579	-0.086042	0.07097	0.217955	0.321295	ENSG00000158636	ENST00000531793	.	.	.	6.06	4.87	0.63330	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.39313	-0.9620	3	.	.	.	-2.2619	7.4136	0.27032	0.129:0.0687:0.0:0.8023	rs3753051;rs17749636;rs3753051	.	.	.	P	75	.	.	L	+	2	0	C11orf30	75934863	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.886000	0.28241	2.322000	0.78497	0.528000	0.53228	CTG	T|0.755;C|0.245	0.245	strong		0.512	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		C	76257215	T	C	76257215	2	2	23	1	0	0	0	0	0	0	0	1	1636	1567	55	3		3	C11orf30	11	76257215	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	958747	76257215	58749301	2855	19311										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76918411	76918411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctgctcctcaagtcctcAgagggattcagcctctttgt	10	12	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:76918411A>G	ENST00000409709.3	+	42	6092	c.5820A>G	c.(5818-5820)tcA>tcG	p.S1940S	MYO7A_ENST00000409619.2_Silent_p.S1891S|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.S1902S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1940	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAAGTCCTCAGAGGGATTCA	0.572																																					p.S1940S		Atlas-SNP	.											.	MYO7A	164	.	0			c.A5820G						PASS	.						40	45	43					11																	76918411		2062	4191	6253	SO:0001819	synonymous_variant	4647	exon42			GTCCTCAGAGGGA	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5820A>G	11.37:g.76918411A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	118	72	0.610169	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			.	.	none		0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76918411	A	G	76918411	2	3	23	1	0	0	0	0	0	0	0	1	10082	175	7	3		3	MYO7A	11	76918411	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	661196	76918411	58088105	2856	19312										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76922868	76922868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgccctgtccccatagtcCatcgtcgcctacttcaacaa	5	18	1	0	rs41298757	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:76922868C>T	ENST00000409709.3	+	46	6512	c.6240C>T	c.(6238-6240)tcC>tcT	p.S2080S	MYO7A_ENST00000409619.2_Silent_p.S2031S|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.S2042S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2080	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCATAGTCCATCGTCGCCT	0.627													C|||	80	0.0159744	0.0038	0.0173	5008	,	,		19295	0.0		0.0507	False		,,,				2504	0.0123				p.S2080S		Atlas-SNP	.											.	MYO7A	164	.	0			c.C6240T						PASS	.	C	,	39,4353	38.4+/-70.7	1,37,2158	46	47	47	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6240,6126	0.5	0.9	11	dbSNP_127	47	371,8199	119.7+/-179.0	11,349,3925	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	12,386,6083	TT,TC,CC		4.3291,0.888,3.1631	,	2080/2216,2042/2176	76922868	410,12552	2196	4285	6481	SO:0001819	synonymous_variant	4647	exon46			ATAGTCCATCGTC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6240C>T	11.37:g.76922868C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	51	28	0.54902	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			C|0.975;T|0.025	0.025	strong		0.627	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76922868	C	T	76922868	2	4	23	1	0	0	0	0	0	0	0	1	10082	581	21	2		2	MYO7A	11	76922868	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4457	76922868	58083648	2857	19313										
MYO7A	4647	hgsc.bcm.edu	37	chr11	76922946	76922946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctgaagctcatcttcaaGtggcccacctttggctcagc	8	14	4	1	rs11237123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:76922946G>A	ENST00000409709.3	+	46	6590	c.6318G>A	c.(6316-6318)aaG>aaA	p.K2106K	MYO7A_ENST00000409619.2_Silent_p.K2057K|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.K2068K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2106	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCATCTTCAAGTGGCCCACCT	0.562													G|||	980	0.195687	0.3994	0.147	5008	,	,		15615	0.0635		0.2227	False		,,,				2504	0.0634				p.K2106K		Atlas-SNP	.											.	MYO7A	164	.	0			c.G6318A						PASS	.	G	,	1490,2892		279,932,980	57	60	59	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6318,6204	4.6	1	11	dbSNP_120	59	1705,6857		175,1355,2751	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	454,2287,3731	AA,AG,GG		19.9136,34.0027,24.6833	,	2106/2216,2068/2176	76922946	3195,9749	2191	4281	6472	SO:0001819	synonymous_variant	4647	exon46			CTTCAAGTGGCCC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6318G>A	11.37:g.76922946G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			G|0.785;A|0.215	0.215	strong		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76922946	G	A	76922946	2	1	23	1	0	0	0	0	0	0	0	1	10082	1020	36	2		2	MYO7A	11	76922946	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	78	76922946	58083570	2858	19314										
USP35	57558	hgsc.bcm.edu	37	chr11	77920964	77920964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagggaaggaggagagaaCggagaaggaagaagtggggg	22	1	0	4	rs118006862	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:77920964C>T	ENST00000529308.1	+	10	2324	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	USP35_ENST00000526425.1_Missense_Mutation_p.T419M|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.T274M|USP35_ENST00000530267.1_Missense_Mutation_p.T256M	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	688	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			gaggagagaacggagaaggaa	0.562													C|||	26	0.00519169	0.0	0.0115	5008	,	,		18342	0.0		0.0169	False		,,,				2504	0.001				p.T688M		Atlas-SNP	.											.	USP35	179	.	0			c.C2063T						PASS	.	C	MET/THR	19,4091		0,19,2036	64	82	76		2063	-9.8	0	11	dbSNP_132	76	198,8224		0,198,4013	no	missense	USP35	NM_020798.2	81	0,217,6049	TT,TC,CC		2.351,0.4623,1.7316	possibly-damaging	688/1019	77920964	217,12315	2055	4211	6266	SO:0001583	missense	57558	exon10			AGAGAACGGAGAA	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2063C>T	11.37:g.77920964C>T	ENSP00000431876:p.Thr688Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	82	37	0.451219	NM_020798		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	18	0.008241758241758242	0	0.0	5	0.013812154696132596	0	0.0	13	0.017150395778364115	C	10.48	1.361588	0.24684	0.004623	0.02351	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.07908	3.17;3.42;3.42;3.15	4.92	-9.84	0.00479	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	4.302940	0.01614	N	0.022689	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	P;P	0.44309	0.489;0.832	B;B	0.34138	0.164;0.176	T	0.38178	-0.9673	10	0.46703	T	0.11	2.4872	6.4557	0.21928	0.1883:0.1253:0.5478:0.1386	.	688;274	Q9P2H5;E7EWV7	UBP35_HUMAN;.	M	256;688;274;419	ENSP00000435468:T256M;ENSP00000431876:T688M;ENSP00000400825:T274M;ENSP00000434942:T419M	ENSP00000400825:T274M	T	+	2	0	USP35	77598612	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.497000	0.00969	-2.043000	0.00913	-0.499000	0.04595	ACG	C|0.991;T|0.009	0.009	strong		0.562	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77920964	C	T	77920964	3	4	23	1	0	0	0	0	1	0	0	0	17063	536	19	1	2097	1	USP35	11	77920964	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	998018	77920964	57085552	2859	19315										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78369573	78369573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacaaagtaatgggtatccaCcccatcaatggtgaagtgca	9	10	1	1	rs75922333	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:78369573C>T	ENST00000278550.7	-	34	8302	c.7840G>A	c.(7840-7842)Gtg>Atg	p.V2614M		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2614					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)										TGGGTATCCACCCCATCAATG	0.557													C|||	17	0.00339457	0.0023	0.0014	5008	,	,		20854	0.0		0.0129	False		,,,				2504	0.0				p.V2614M		Atlas-SNP	.											.	.	.	.	0			c.G7840A						PASS	.	C	MET/VAL	16,4072		0,16,2028	44	47	46		7840	1.8	0.7	11	dbSNP_131	46	155,8247		2,151,4048	yes	missense	ODZ4	NM_001098816.2	21	2,167,6076	TT,TC,CC		1.8448,0.3914,1.3691	benign	2614/2770	78369573	171,12319	2044	4201	6245	SO:0001583	missense	26011	exon34			TATCCACCCCATC	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.7840G>A	11.37:g.78369573C>T	ENSP00000278550:p.Val2614Met	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	105	47	0.447619	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	14	0.00641025641025641	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	10	0.013192612137203167	C	9.623	1.134402	0.21123	0.003914	0.018448	ENSG00000149256	ENST00000278550	D	0.89485	-2.52	5.65	1.78	0.24846	.	0.375145	0.29273	N	0.012631	T	0.59595	0.2205	N	0.08118	0	0.27241	N	0.959155	B	0.13145	0.007	B	0.09377	0.004	T	0.54022	-0.8355	9	.	.	.	.	9.0578	0.36416	0.0:0.5855:0.0:0.4145	.	2614	Q6N022	TEN4_HUMAN	M	2614	ENSP00000278550:V2614M	.	V	-	1	0	ODZ4	78047221	0.005000	0.15991	0.705000	0.30386	0.942000	0.58702	-0.244000	0.08903	0.185000	0.20105	-0.137000	0.14449	GTG	C|0.990;T|0.010	0.010	strong		0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78369573	C	T	78369573	3	4	23	1	0	0	0	0	1	0	0	0	10837	507	18	2	473	2	ODZ4	11	78369573	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	448609	78369573	56636943	2860	19316										
CCDC81	60494	hgsc.bcm.edu	37	chr11	86123467	86123467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacggccactcagtcctgcGcttaatgctcttaagcaaga	8	12	2	1	rs3741006	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:86123467G>A	ENST00000445632.2	+	11	1529	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	CCDC81_ENST00000528728.1_Silent_p.A154A|CCDC81_ENST00000354755.1_Silent_p.A329A|CCDC81_ENST00000278487.3_Silent_p.A154A	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	419										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCAGTCCTGCGCTTAATGCTC	0.373													G|||	1613	0.322085	0.2216	0.3991	5008	,	,		20396	0.2718		0.3897	False		,,,				2504	0.3855				p.A419A		Atlas-SNP	.											.	CCDC81	89	.	0			c.G1257A						PASS	.	G	,	1081,3323	393.5+/-328.9	130,821,1251	117	116	116		1257,987	0.2	0.9	11	dbSNP_107	116	3378,5220	500.3+/-375.2	657,2064,1578	no	coding-synonymous,coding-synonymous	CCDC81	NM_001156474.1,NM_021827.4	,	787,2885,2829	AA,AG,GG		39.2882,24.5459,34.2947	,	419/653,329/563	86123467	4459,8543	2202	4299	6501	SO:0001819	synonymous_variant	60494	exon11			TCCTGCGCTTAAT	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1257G>A	11.37:g.86123467G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	212	209	0.985849	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	CCDS53691.1																																																																																			G|0.678;A|0.322	0.322	strong		0.373	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		A	86123467	G	A	86123467	2	1	23	1	0	0	0	0	0	0	0	1	2855	1074	38	1		1	CCDC81	11	86123467	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7753894	86123467	48883049	2861	19317										
ME3	10873	hgsc.bcm.edu	37	chr11	86153911	86153911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggatggtgctgagtggtggGtagagtctcccctgggacag	18	8	1	2	rs7548	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:86153911G>A	ENST00000393324.3	-	13	1858	c.1605C>T	c.(1603-1605)taC>taT	p.Y535Y	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Silent_p.Y535Y|ME3_ENST00000543262.1_Silent_p.Y535Y	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	535					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.Y535Y(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGAGTGGTGGGTAGAGTCTCC	0.527													G|||	1073	0.214257	0.1384	0.2594	5008	,	,		20219	0.0893		0.341	False		,,,				2504	0.2832				p.Y535Y		Atlas-SNP	.											ME3,NS,carcinoma,0,1	ME3	70	1	1	Substitution - coding silent(1)	stomach(1)	c.C1605T						scavenged	.	G	,,	770,3634	314.4+/-293.6	69,632,1501	150	131	137		1605,1605,1605	4.7	1	11	dbSNP_52	137	2934,5664	457.3+/-364.3	492,1950,1857	no	coding-synonymous,coding-synonymous,coding-synonymous	ME3	NM_001014811.1,NM_001161586.1,NM_006680.2	,,	561,2582,3358	AA,AG,GG		34.1242,17.4841,28.4879	,,	535/605,535/605,535/605	86153911	3704,9298	2202	4299	6501	SO:0001819	synonymous_variant	10873	exon14			TGGTGGGTAGAGT	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1605C>T	11.37:g.86153911G>A		Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	114	113	0.991228	NM_006680	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																			G|0.594;T|0.036	.	strong		0.527	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			A	86153911	G	A	86153911	2	1	23	1	0	0	0	0	0	0	0	1	9419	1256	44	2		2	ME3	11	86153911	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	30444	86153911	48852605	2862	19318										
ME3	10873	hgsc.bcm.edu	37	chr11	86159223	86159223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggcttcaccagcctcacCacctcctccagggagttgac	10	16	2	1	rs34662182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:86159223C>T	ENST00000393324.3	-	10	1459	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Silent_p.V402V|ME3_ENST00000543262.1_Silent_p.V402V	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	402					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CCAGCCTCACCACCTCCTCCA	0.552													C|||	180	0.0359425	0.003	0.0591	5008	,	,		18896	0.001		0.0855	False		,,,				2504	0.0491				p.V402V		Atlas-SNP	.											ME3,NS,carcinoma,0,1	ME3	70	1	0			c.G1206A						PASS	.	C	,,	68,4336	62.3+/-99.4	1,66,2135	149	106	121		1206,1206,1206	3.7	1	11	dbSNP_126	121	684,7914	170.4+/-221.6	23,638,3638	no	coding-synonymous,coding-synonymous,coding-synonymous	ME3	NM_001014811.1,NM_001161586.1,NM_006680.2	,,	24,704,5773	TT,TC,CC		7.9553,1.5441,5.7837	,,	402/605,402/605,402/605	86159223	752,12250	2202	4299	6501	SO:0001819	synonymous_variant	10873	exon11			CCTCACCACCTCC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1206G>A	11.37:g.86159223C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	174	117	0.672414	NM_006680	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																			C|0.946;T|0.054	0.054	strong		0.552	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			T	86159223	C	T	86159223	2	4	23	1	0	0	0	0	0	0	0	1	9419	581	21	2		2	ME3	11	86159223	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5312	86159223	48847293	2863	19319										
TYR	7299	hgsc.bcm.edu	37	chr11	88911218	88911218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctaagaacctgatggagAaggaatgctgtccaccgtgg	12	10	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:88911218A>G	ENST00000263321.5	+	1	599	c.97A>G	c.(97-99)Aag>Gag	p.K33E	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	33					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCTGATGGAGAAGGAATGCTG	0.547																																					p.K33E		Atlas-SNP	.											TYR,NS,carcinoma,-2,2	TYR	130	2	0			c.A97G						scavenged	.						77	75	76					11																	88911218		2201	4299	6500	SO:0001583	missense	7299	exon1			ATGGAGAAGGAAT	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.97A>G	11.37:g.88911218A>G	ENSP00000263321:p.Lys33Glu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	198	2	0.010101	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415648	0.83449	.	.	ENSG00000077498	ENST00000263321	D	0.99259	-5.64	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.98310	1.0523	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	33	P14679	TYRO_HUMAN	E	33	ENSP00000263321:K33E	.	K	+	1	0	TYR	88550866	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	8.750000	0.91623	2.326000	0.78906	0.533000	0.62120	AAG	.	.	none		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		G	88911218	A	G	88911218	3	3	23	1	0	0	0	0	1	0	0	0	16810	247	9	2	99	2	TYR	11	88911218	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2751995	88911218	46095298	2864	19320										
TYR	7299	hgsc.bcm.edu	37	chr11	88911696	88911696	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgcactgcttgggggatCtgaaatctggagagacattg	15	6	2	2	rs1042602	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:88911696C>A	ENST00000263321.5	+	1	1077	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	192			S -> Y (associated with SHEP3; light/dark skin; dbSNP:rs1042602). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:11153699, ECO:0000269|PubMed:11214319, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:17952075, ECO:0000269|PubMed:17999355, ECO:0000269|PubMed:2342539}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTTGGGGGATCTGAAATCTGG	0.423													C|||	618	0.123403	0.0121	0.2378	5008	,	,		21077	0.001		0.3718	False		,,,				2504	0.0634				p.S192Y		Atlas-SNP	.											TYR,NS,carcinoma,0,1	TYR	130	1	0			c.C575A	GRCh37	CM076581	TYR	M	rs1042602	PASS	.	C	TYR/SER	333,4069	174.4+/-204.0	13,307,1881	193	181	185	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	575	6.1	0	11	dbSNP_86	185	3239,5359	486.7+/-371.9	592,2055,1652	yes	missense	TYR	NM_000372.4	144	605,2362,3533	AA,AC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	37.6716,7.5647,27.4769	probably-damaging	192/530	88911696	3572,9428	2201	4299	6500	SO:0001583	missense	7299	exon1			GGGGATCTGAAAT	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.575C>A	11.37:g.88911696C>A	ENSP00000263321:p.Ser192Tyr	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	182	124	0.681319	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	399	0.18269230769230768	7	0.014227642276422764	112	0.30939226519337015	1	0.0017482517482517483	279	0.36807387862796836	C	17.00	3.275960	0.59649	0.075647	0.376716	ENSG00000077498	ENST00000263321	D	0.98732	-5.1	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.065875	0.64402	D	0.000008	T	0.00039	0.0001	M	0.70275	2.135	0.47737	P	4.92000000000048E-4	D	0.69078	0.997	D	0.71656	0.974	T	0.00000	-1.7843	8	.	.	.	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	rs61569485	192	P14679	TYRO_HUMAN	Y	192	ENSP00000263321:S192Y	.	S	+	2	0	TYR	88551344	0.660000	0.27420	0.028000	0.17463	0.775000	0.43874	4.436000	0.59948	2.885000	0.99019	0.655000	0.94253	TCT	C|0.751;A|0.249	0.249	strong		0.423	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		A	88911696	C	A	88911696	3	1	23	1	0	0	0	0	1	0	0	0	16810	913	32	4	577	4	TYR	11	88911696	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	478	88911696	46094820	2865	19321										
UBTFL1	0	hgsc.bcm.edu	37	chr11	89819431	89819431	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttccaaagaggccccttaCtgcttacaatcgcttcttca	5	14	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:89819431C>T								TRIM49C (12873 upstream) : SNORD56 (32127 downstream)																							AGGCCCCTTACTGCTTACAAT	0.428																																					p.T105I		Atlas-SNP	.											.	.	.	.	0			c.C314T						PASS	.						97	72	80					11																	89819431		682	1559	2241	SO:0001628	intergenic_variant	642623	exon1			CCCTTACTGCTTA																													11.37:g.89819431C>T		Somatic	321	1	0.00311526		WXS	Illumina HiSeq	Phase_I	411	270	0.656934	NM_001143975		Missense_Mutation	SNP		37																																																																																				.	.	none	0	0.428									T	89819431	C	T	89819431	1	4	23	0	1	0	0	0	0	0	0	0	16907	565	20	2		2	UBTFL1	11	89819431	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	907735	89819431	45187085	2866	19322										
FAT3	120114	hgsc.bcm.edu	37	chr11	92257991	92257991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttgtcatggaaaactctCcaaaggacgtatctgtcatt	8	9	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:92257991C>A	ENST00000298047.6	+	2	3501	c.3484C>A	c.(3484-3486)Cca>Aca	p.P1162T	FAT3_ENST00000525166.1_Missense_Mutation_p.P1012T|FAT3_ENST00000541502.1_Missense_Mutation_p.P1162T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1162T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1162	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAAAACTCTCCAAAGGACGT	0.418										TCGA Ovarian(4;0.039)																											p.P1162T		Atlas-SNP	.											.	FAT3	1822	.	0			c.C3484A						PASS	.						58	58	58					11																	92257991		1968	4167	6135	SO:0001583	missense	120114	exon2			AACTCTCCAAAGG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3484C>A	11.37:g.92257991C>A	ENSP00000298047:p.Pro1162Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	200	123	0.615	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197532	0.79015	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.66	5.66	0.87406	.	.	.	.	.	T	0.68933	0.3055	L	0.58925	1.835	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	T	0.68969	-0.5269	9	0.54805	T	0.06	.	15.2581	0.73601	0.0:0.8603:0.1397:0.0	.	1162	Q8TDW7-3	.	T	1162;1162;1162;1012	ENSP00000298047:P1162T;ENSP00000387040:P1162T;ENSP00000443786:P1162T;ENSP00000432586:P1012T	ENSP00000298047:P1162T	P	+	1	0	FAT3	91897639	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	5.946000	0.70234	2.682000	0.91365	0.650000	0.86243	CCA	.	.	none		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92257991	C	A	92257991	3	1	23	1	0	0	0	0	1	0	0	0	5691	855	30	4	3490	4	FAT3	11	92257991	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2438560	92257991	42748525	2867	19323										
FAT3	120114	hgsc.bcm.edu	37	chr11	92568149	92568149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgctgtggccactgtcaacAtcaacctcacagatgttaat	8	12	3	1	rs75651194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:92568149A>G	ENST00000298047.6	+	14	10002	c.9985A>G	c.(9985-9987)Atc>Gtc	p.I3329V	FAT3_ENST00000525166.1_Missense_Mutation_p.I3179V|FAT3_ENST00000409404.2_Missense_Mutation_p.I3329V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3329	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTGTCAACATCAACCTCAC	0.498										TCGA Ovarian(4;0.039)			A|||	27	0.00539137	0.0008	0.0115	5008	,	,		16819	0.0		0.0119	False		,,,				2504	0.0061				p.I3329V		Atlas-SNP	.											.	FAT3	1822	.	0			c.A9985G						PASS	.	A	VAL/ILE	2,3912		0,2,1955	50	51	51		9985	3.2	1	11	dbSNP_133	51	113,8195		2,109,4043	yes	missense	FAT3	NM_001008781.2	29	2,111,5998	GG,GA,AA		1.3601,0.0511,0.9409	benign	3329/4558	92568149	115,12107	1957	4154	6111	SO:0001583	missense	120114	exon14			GTCAACATCAACC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9985A>G	11.37:g.92568149A>G	ENSP00000298047:p.Ile3329Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	183	50	0.273224	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		13	0.005952380952380952	0	0.0	5	0.013812154696132596	0	0.0	8	0.010554089709762533	A	3.371	-0.128480	0.06753	5.11E-4	0.013601	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.35421	1.31;1.31;1.31	5.46	3.17	0.36434	.	.	.	.	.	T	0.15652	0.0377	N	0.20574	0.59	0.80722	D	1	B	0.13594	0.008	B	0.18263	0.021	T	0.04128	-1.0975	9	0.28530	T	0.3	.	8.4034	0.32601	0.7733:0.0:0.2267:0.0	.	3329	Q8TDW7-3	.	V	3329;3329;3179	ENSP00000298047:I3329V;ENSP00000387040:I3329V;ENSP00000432586:I3179V	ENSP00000298047:I3329V	I	+	1	0	FAT3	92207797	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	1.781000	0.38644	0.897000	0.36392	-0.256000	0.11100	ATC	A|0.991;G|0.009	0.009	strong		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92568149	A	G	92568149	3	3	23	1	0	0	0	0	1	0	0	0	5691	217	8	2	10039	2	FAT3	11	92568149	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	310158	92568149	42438367	2868	19324										
FAT3	120114	hgsc.bcm.edu	37	chr11	92616452	92616452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccgcatcctgacagcccGgcggggcgtggtcgtgtgca	16	15	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:92616452G>A	ENST00000298047.6	+	23	12847	c.12830G>A	c.(12829-12831)cGg>cAg	p.R4277Q	FAT3_ENST00000525166.1_Missense_Mutation_p.R4127Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R612Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R4277Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4277					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGACAGCCCGGCGGGGCGTG	0.667										TCGA Ovarian(4;0.039)																											p.R4277Q		Atlas-SNP	.											FAT3_ENST00000409404,bladder,carcinoma,-1,3	FAT3	1822	3	0			c.G12830A						scavenged	.						43	53	50					11																	92616452		2091	4197	6288	SO:0001583	missense	120114	exon23			CAGCCCGGCGGGG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12830G>A	11.37:g.92616452G>A	ENSP00000298047:p.Arg4277Gln	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	77	2	0.025974	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	29.3	4.998227	0.93227	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87179	-0.93;-1.0;-0.94;-2.22	5.85	5.85	0.93711	.	.	.	.	.	D	0.93216	0.7839	M	0.80982	2.52	0.80722	D	1	D;B	0.76494	0.999;0.414	P;B	0.60473	0.875;0.087	D	0.92664	0.6144	9	0.51188	T	0.08	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4277;4277	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	4277;4277;4127;612	ENSP00000298047:R4277Q;ENSP00000387040:R4277Q;ENSP00000432586:R4127Q;ENSP00000436399:R612Q	ENSP00000298047:R4277Q	R	+	2	0	FAT3	92256100	1.000000	0.71417	0.849000	0.33467	0.982000	0.71751	6.012000	0.70767	2.770000	0.95276	0.655000	0.94253	CGG	.	.	none		0.667	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92616452	G	A	92616452	3	1	23	1	0	0	0	0	1	0	0	0	5691	1116	39	1	12920	1	FAT3	11	92616452	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	48303	92616452	42390064	2869	19325										
CCDC67	159989	hgsc.bcm.edu	37	chr11	93129483	93129483	+	Missense_Mutation	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggagatttagaccccggaGaatacatggtaatatgctga					rs386756254|rs12288277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:93129483G>C	ENST00000298050.3	+	11	1418	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	CCDC67_ENST00000525646.1_Missense_Mutation_p.E182Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	440			E -> G (in dbSNP:rs12282288).|E -> Q (in dbSNP:rs12288277).	E -> R (in Ref. 3; BAB71673). {ECO:0000305}.	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)				AGACCCCGGAGAATACATGGT	0.358													C|||	1335	0.266573	0.1929	0.1888	5008	,	,		18794	0.3363		0.2833	False		,,,				2504	0.3323				p.E440Q		Atlas-SNP	.											.	CCDC67	57	.	0			c.G1318C						PASS	.	C	GLN/GLU	6,3662		0,6,1828	51	47	48		1318	4.3	0.5	11	dbSNP_120	48	25,8145		3,19,4063	yes	missense	CCDC67	NM_181645.3	29	3,25,5891	CC,CG,GG		0.306,0.1636,0.2619	benign	440/605	93129483	31,11807	1834	4085	5919	SO:0001583	missense	159989	exon11			CCCGGAGAATACA	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.1318G>C	11.37:g.93129483G>C	ENSP00000298050:p.Glu440Gln	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	253	60	0.237154	NM_181645	Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	CCDS44707.1	457	0.20924908424908426	63	0.12804878048780488	66	0.18232044198895028	161	0.28146853146853146	167	0.22031662269129287	C	2.060	-0.415727	0.04766	0.001636	0.00306	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.23147	1.92;1.92;1.92	5.26	4.29	0.51040	.	1.241300	0.05530	N	0.563720	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39251	-0.9623	9	0.15066	T	0.55	.	7.8248	0.29309	0.2425:0.6166:0.1409:0.0	rs12288277;rs58616132;rs12288277	440;440	Q05D60;E9PJR5	CCD67_HUMAN;.	Q	440;440;182	ENSP00000432111:E440Q;ENSP00000298050:E440Q;ENSP00000435079:E182Q	ENSP00000298050:E440Q	E	+	1	0	CCDC67	92769131	0.087000	0.21565	0.495000	0.27527	0.058000	0.15608	1.216000	0.32443	1.473000	0.48159	-0.127000	0.14921	GAA	C|0.236;G|0.764	0.236	strong		0.358	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		C	93129483	G	C	93129483	3	2	23	1	0	0	0	0	1	0	0	0	2839	943	33	4	1356	4	CCDC67	11	93129483	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	513031	93129483	41877033	2870	19326	395	2								
CCDC67	159989	hgsc.bcm.edu	37	chr11	93129484	93129484	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagatttagaccccggagAatacatggtaatatgctgac					rs12282288|rs386756254	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:93129484A>G	ENST00000298050.3	+	11	1419	c.1319A>G	c.(1318-1320)gAa>gGa	p.E440G	CCDC67_ENST00000525646.1_Missense_Mutation_p.E182G	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	440			E -> G (in dbSNP:rs12282288).|E -> Q (in dbSNP:rs12288277).	E -> R (in Ref. 3; BAB71673). {ECO:0000305}.	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)				GACCCCGGAGAATACATGGTA	0.353													G|||	1336	0.266773	0.1929	0.1888	5008	,	,		18716	0.3363		0.2843	False		,,,				2504	0.3323				p.E440G		Atlas-SNP	.											.	CCDC67	57	.	0			c.A1319G						PASS	.	G	GLY/GLU	7,3659		1,5,1827	50	47	48		1319	-3.3	0	11	dbSNP_120	48	28,8144		2,24,4060	yes	missense	CCDC67	NM_181645.3	98	3,29,5887	GG,GA,AA		0.3426,0.1909,0.2957	benign	440/605	93129484	35,11803	1833	4086	5919	SO:0001583	missense	159989	exon11			CCGGAGAATACAT	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.1319A>G	11.37:g.93129484A>G	ENSP00000298050:p.Glu440Gly	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	250	60	0.24	NM_181645	Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	CCDS44707.1	460	0.21062271062271062	64	0.13008130081300814	66	0.18232044198895028	163	0.28496503496503495	167	0.22031662269129287	G	1.574	-0.533394	0.04082	0.001909	0.003426	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.22134	1.97;1.97;1.97	5.26	-3.27	0.05048	.	1.241300	0.05530	N	0.563720	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44236	-0.9341	9	0.25751	T	0.34	.	6.1932	0.20536	0.4217:0.2198:0.3586:0.0	rs12282288;rs58568481;rs12282288	440;440	Q05D60;E9PJR5	CCD67_HUMAN;.	G	440;440;182	ENSP00000432111:E440G;ENSP00000298050:E440G;ENSP00000435079:E182G	ENSP00000298050:E440G	E	+	2	0	CCDC67	92769132	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-1.032000	0.03574	-1.184000	0.02720	-1.922000	0.00515	GAA	A|0.801;G|0.199	0.199	strong		0.353	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		G	93129484	A	G	93129484	3	3	23	1	0	0	0	0	1	0	0	0	2839	246	9	2	1357	2	CCDC67	11	93129484	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1	93129484	41877032	2871	19327	395	2								
C11orf75	56935	hgsc.bcm.edu	37	chr11	93212254	93212254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accacggccagcgtgggcagCaccactgtagtgatctgctg	13	13	1	1	rs2658797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:93212254C>T	ENST00000298966.2	-	3	487	c.102G>A	c.(100-102)gtG>gtA	p.V34V	SMCO4_ENST00000525141.1_Silent_p.V34V|SMCO4_ENST00000527149.1_Silent_p.V34V	NM_020179.2	NP_064564.1	Q9NRQ5	SMCO4_HUMAN	single-pass membrane protein with coiled-coil domains 4	34						integral component of membrane (GO:0016021)											GCGTGGGCAGCACCACTGTAG	0.642													C|||	3502	0.699281	0.6172	0.7219	5008	,	,		14999	0.9435		0.504	False		,,,				2504	0.7434				p.V34V		Atlas-SNP	.											.	.	.	.	0			c.G102A						PASS	.	C		2766,1636	660.5+/-400.7	879,1008,314	104	88	93		102	5	1	11	dbSNP_100	93	4236,4360	572.7+/-389.8	1057,2122,1119	no	coding-synonymous	C11orf75	NM_020179.2		1936,3130,1433	TT,TC,CC		49.2787,37.1649,46.1302		34/60	93212254	7002,5996	2201	4298	6499	SO:0001819	synonymous_variant	0	exon3			GGGCAGCACCACT	BC031564	CCDS8292.1	11q21	2013-03-11	2013-03-11	2013-03-11	ENSG00000166002	ENSG00000166002			24810	protein-coding gene	gene with protein product		609477	"chromosome 11 open reading frame 75"	C11orf75		10863097	Standard	NM_020179		Approved	FN5	uc001pds.4	Q9NRQ5	OTTHUMG00000167442	ENST00000298966.2:c.102G>A	11.37:g.93212254C>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	133	128	0.962406	NM_020179		Silent	SNP	ENST00000298966.2	37	CCDS8292.1																																																																																			C|0.421;T|0.579	0.579	strong		0.642	SMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394630.1	NM_020179		T	93212254	C	T	93212254	2	4	23	1	0	0	0	0	0	0	0	1	1663	697	25	2		2	C11orf75	11	93212254	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	82770	93212254	41794262	2872	19328										
CNTN5	53942	hgsc.bcm.edu	37	chr11	99690450	99690450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggcagctcagaattattaTtcccccatcaatctttatca	6	11	4	1	rs12222337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:99690450T>C	ENST00000524871.1	+	4	521	c.231T>C	c.(229-231)taT>taC	p.Y77Y	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.Y77Y|CNTN5_ENST00000527185.1_Silent_p.Y77Y|CNTN5_ENST00000528682.1_Silent_p.Y77Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	77					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAATTATTATTCCCCCATCA	0.443																																					p.Y77Y		Atlas-SNP	.											.	CNTN5	324	.	0			c.T231C						PASS	.						61	61	61					11																	99690450		1892	4090	5982	SO:0001819	synonymous_variant	53942	exon3			TTATTATTCCCCC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.231T>C	11.37:g.99690450T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	209	37	0.177033	NM_001243270	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																			C|0.101;T|0.899	0.101	strong		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		C	99690450	T	C	99690450	2	2	23	1	0	0	0	0	0	0	0	1	3644	1500	52	2		2	CNTN5	11	99690450	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6478196	99690450	35316066	2873	19329										
PGR	5241	hgsc.bcm.edu	37	chr11	100922202	100922202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagcatctgcccactgacGtgtttgtaggatctccatcc	8	13	2	1	rs1042839	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:100922202G>A	ENST00000325455.5	-	5	3763	c.2310C>T	c.(2308-2310)caC>caT	p.H770H	PGR_ENST00000263463.5_Silent_p.H668H|PGR_ENST00000534013.1_Silent_p.H176H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	770	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GCCCACTGACGTGTTTGTAGG	0.348													G|||	352	0.0702875	0.0061	0.1354	5008	,	,		16564	0.0099		0.1789	False		,,,				2504	0.0613				p.H770H	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.C2310T						PASS	.	G	,	131,4275	94.8+/-133.5	1,129,2073	127	123	124		2310,1818	-0.9	1	11	dbSNP_86	124	1407,7193	271.7+/-289.7	106,1195,2999	no	coding-synonymous,coding-synonymous	PGR	NM_000926.4,NM_001202474.1	,	107,1324,5072	AA,AG,GG		16.3605,2.9732,11.8253	,	770/934,606/770	100922202	1538,11468	2203	4300	6503	SO:0001819	synonymous_variant	5241	exon5			ACTGACGTGTTTG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2310C>T	11.37:g.100922202G>A		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	399	118	0.295739	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	CCDS8310.1																																																																																			G|0.892;A|0.108	0.108	strong		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100922202	G	A	100922202	2	1	23	1	0	0	0	0	0	0	0	1	11805	1136	40	1		1	PGR	11	100922202	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1231752	100922202	34084314	2874	19330										
PGR	5241	hgsc.bcm.edu	37	chr11	100933412	100933412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctttcatttggaacgcccaCtggctgtgggagagcaacag	13	10	1	1	rs1042838	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:100933412C>A	ENST00000325455.5	-	4	3431	c.1978G>T	c.(1978-1980)Gtg>Ttg	p.V660L	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.V66L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	660			V -> L (in dbSNP:rs1042838). {ECO:0000269|PubMed:12644308, ECO:0000269|PubMed:3551956, ECO:0000269|Ref.3}.		cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGAACGCCCACTGGCTGTGGG	0.418													C|||	358	0.0714856	0.0061	0.1369	5008	,	,		15303	0.0099		0.1789	False		,,,				2504	0.0665				p.V660L	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.G1978T	GRCh37	CM043326	PGR	M	rs1042838	PASS	.	C	LEU/VAL,LEU/VAL	132,4274	95.3+/-134.0	1,130,2072	124	108	113		1978,1486	4.5	1	11	dbSNP_86	113	1414,7186	272.8+/-290.3	107,1200,2993	yes	missense,missense	PGR	NM_000926.4,NM_001202474.1	32,32	108,1330,5065	AA,AC,CC		16.4419,2.9959,11.8868	benign,benign	660/934,496/770	100933412	1546,11460	2203	4300	6503	SO:0001583	missense	5241	exon4			CGCCCACTGGCTG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1978G>T	11.37:g.100933412C>A	ENSP00000325120:p.Val660Leu	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	170	68	0.4	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	207	0.09478021978021978	6	0.012195121951219513	54	0.14917127071823205	4	0.006993006993006993	143	0.18865435356200527	C	11.58	1.681111	0.29872	0.029959	0.164419	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86366	-1.67;-2.11	5.41	4.49	0.54785	Nuclear hormone receptor, ligand-binding (1);	0.704963	0.13868	N	0.357217	T	0.00384	0.0012	L	0.43757	1.38	0.09310	P	0.99999999182884	B	0.12630	0.006	B	0.09377	0.004	T	0.23940	-1.0174	9	0.27082	T	0.32	.	5.3111	0.15831	0.1488:0.6304:0.1439:0.077	rs1042838;rs11571223;rs17656622;rs52792239;rs56653495;rs1042838	660	P06401	PRGR_HUMAN	L	660;66	ENSP00000325120:V660L;ENSP00000436561:V66L	ENSP00000325120:V660L	V	-	1	0	PGR	100438622	0.159000	0.22864	0.998000	0.56505	0.714000	0.41099	0.674000	0.25218	2.512000	0.84698	0.591000	0.81541	GTG	C|0.893;A|0.107	0.107	strong		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100933412	C	A	100933412	3	1	23	1	0	0	0	0	1	0	0	0	11805	565	20	4	843	4	PGR	11	100933412	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11210	100933412	34073104	2875	19331										
PGR	5241	hgsc.bcm.edu	37	chr11	100998771	100998771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacgaggcacagggtgaaCtccgcggcggggcaaaggcg	19	10	0	1	rs3740753	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:100998771C>G	ENST00000325455.5	-	1	2484	c.1031G>C	c.(1030-1032)aGt>aCt	p.S344T	PGR_ENST00000263463.5_Missense_Mutation_p.S344T|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	344	Modulating, Pro-Rich.		S -> T (in dbSNP:rs3740753). {ECO:0000269|PubMed:2328727, ECO:0000269|Ref.8}.		cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	ACAGGGTGAACTCCGCGGCGG	0.682													C|||	361	0.0720847	0.0061	0.1398	5008	,	,		11093	0.0099		0.1769	False		,,,				2504	0.0695				p.S344T	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.G1031C						PASS	.	C	THR/SER,THR/SER	106,4056		1,104,1976	14	19	18		1031,539	1.8	1	11	dbSNP_107	18	1244,7046		88,1068,2989	yes	missense,missense	PGR	NM_000926.4,NM_001202474.1	58,58	89,1172,4965	GG,GC,CC		15.006,2.5469,10.8416	benign,benign	344/934,180/770	100998771	1350,11102	2081	4145	6226	SO:0001583	missense	5241	exon1			GGTGAACTCCGCG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1031G>C	11.37:g.100998771C>G	ENSP00000325120:p.Ser344Thr	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	23	10	0.434783	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	208	0.09523809523809523	6	0.012195121951219513	55	0.15193370165745856	4	0.006993006993006993	143	0.18865435356200527	C	7.606	0.673794	0.14841	0.025469	0.15006	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.10288	2.89;2.89	3.84	1.76	0.24704	.	1.096570	0.07012	N	0.825310	T	0.00012	0.0000	L	0.27053	0.805	0.53688	P	2.1000000000048757E-5	B;B	0.26483	0.094;0.15	B;B	0.24394	0.034;0.053	T	0.43766	-0.9371	9	0.34782	T	0.22	.	5.4483	0.16548	0.0:0.5358:0.2446:0.2196	rs3740753	344;344	Q8TDS3;P06401	.;PRGR_HUMAN	T	344	ENSP00000325120:S344T;ENSP00000263463:S344T	ENSP00000263463:S344T	S	-	2	0	PGR	100503981	0.000000	0.05858	0.978000	0.43139	0.038000	0.13279	-0.179000	0.09768	0.816000	0.34421	0.561000	0.74099	AGT	C|0.884;G|0.116	0.116	strong		0.682	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			G	100998771	C	G	100998771	3	3	23	1	0	0	0	0	1	0	0	0	11805	565	20	4	1802	4	PGR	11	100998771	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	65359	100998771	34007745	2876	19332										
YAP1	10413	hgsc.bcm.edu	37	chr11	102094424	102094424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaatccagtgtcttctccCgggatgtctcaggaattgag	10	10	3	1	rs61749258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102094424C>T	ENST00000282441.5	+	7	1492	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	YAP1_ENST00000537274.1_Silent_p.P356P|YAP1_ENST00000526343.1_Silent_p.P314P|YAP1_ENST00000345877.2_Silent_p.P318P|YAP1_ENST00000524575.1_Silent_p.P190P|YAP1_ENST00000531439.1_Silent_p.P352P	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	368	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGTCTTCTCCCGGGATGTCTC	0.438													C|||	15	0.00299521	0.0	0.0029	5008	,	,		20533	0.0		0.008	False		,,,				2504	0.0051				p.P368P	Colon(50;247 1103 7861 28956)	Atlas-SNP	.											.	YAP1	45	.	0			c.C1104T						PASS	.	C	,,,	13,4393	20.2+/-43.8	0,13,2190	108	97	101		1104,1056,570,942	-11	0.2	11	dbSNP_129	101	81,8517	46.7+/-105.8	0,81,4218	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	YAP1	NM_001130145.2,NM_001195044.1,NM_001195045.1,NM_006106.4	,,,	0,94,6408	TT,TC,CC		0.9421,0.2951,0.7229	,,,	368/505,352/489,190/327,314/451	102094424	94,12910	2203	4299	6502	SO:0001819	synonymous_variant	10413	exon7			TTCTCCCGGGATG		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1104C>T	11.37:g.102094424C>T		Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	316	209	0.661392	NM_001130145	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	CCDS44716.1	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	C	8.228	0.803942	0.16467	0.002951	0.009421	ENSG00000137693	ENST00000529029	.	.	.	5.49	-11.0	0.00169	.	0.114641	0.64402	D	0.000010	T	0.27866	0.0686	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56019	-0.8048	6	0.39692	T	0.17	.	1.2473	0.01975	0.1961:0.1395:0.2166:0.4477	rs61749258	.	.	.	L	122	.	ENSP00000431626:P122L	P	+	2	0	YAP1	101599634	0.700000	0.27796	0.231000	0.23993	0.968000	0.65278	-0.459000	0.06728	-2.745000	0.00377	-1.083000	0.02208	CCG	C|0.995;T|0.005	0.005	strong		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		T	102094424	C	T	102094424	2	4	23	1	0	0	0	0	0	0	0	1	17463	639	23	1		1	YAP1	11	102094424	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1095653	102094424	32912092	2877	19333										
BIRC3	330	hgsc.bcm.edu	37	chr11	102195297	102195297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgaaaagcgccaacacGtttgaactgaaatacgactt	8	8	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102195297G>A	ENST00000263464.3	+	2	2807	c.57G>A	c.(55-57)acG>acA	p.T19T	BIRC3_ENST00000532808.1_Silent_p.T19T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	19					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GCGCCAACACGTTTGAACTGA	0.413			T	MALT1	MALT																																p.T19T		Atlas-SNP	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	BIRC3	56	.	0			c.G57A						PASS	.						144	129	134					11																	102195297		2203	4299	6502	SO:0001819	synonymous_variant	330	exon2			CAACACGTTTGAA	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.57G>A	11.37:g.102195297G>A		Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	442	95	0.214932	NM_001165	Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	CCDS8315.1																																																																																			.	.	none		0.413	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		A	102195297	G	A	102195297	2	1	23	1	0	0	0	0	0	0	0	1	1436	1132	40	1		1	BIRC3	11	102195297	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	100873	102195297	32811219	2878	19334										
BIRC3	330	hgsc.bcm.edu	37	chr11	102195984	102195984	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttcaagatacacagtttcTaatctgagcatgcagacaca	6	10	3	3	rs147757750		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102195984T>A	ENST00000263464.3	+	2	3494	c.744T>A	c.(742-744)tcT>tcA	p.S248S	BIRC3_ENST00000532808.1_Silent_p.S248S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	248					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACACAGTTTCTAATCTGAGCA	0.423			T	MALT1	MALT																																p.S248S		Atlas-SNP	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	BIRC3,colon,carcinoma,+2,2	BIRC3	56	2	0			c.T744A						PASS	.						75	76	76					11																	102195984		2203	4299	6502	SO:0001819	synonymous_variant	330	exon2			AGTTTCTAATCTG	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.744T>A	11.37:g.102195984T>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	106	20	0.188679	NM_001165	Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	CCDS8315.1																																																																																			T|1.000;C|0.000	.	alt		0.423	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		A	102195984	T	A	102195984	2	1	23	1	0	0	0	0	0	0	0	1	1436	1509	53	5		5	BIRC3	11	102195984	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	687	102195984	32810532	2879	19335										
MMP27	64066	hgsc.bcm.edu	37	chr11	102562700	102562700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatattctttgtcttaatgtCgtattcaaattgctttgatc	5	6	3	1	rs2509010	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102562700C>T	ENST00000260229.4	-	10	1430	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	447			D -> N (in dbSNP:rs2509010). {ECO:0000269|PubMed:12975309}.		collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GTCTTAATGTCGTATTCAAAT	0.333													C|||	820	0.163738	0.0696	0.2435	5008	,	,		17366	0.1081		0.2744	False		,,,				2504	0.1779				p.D447N		Atlas-SNP	.											.	MMP27	84	.	0			c.G1339A						PASS	.	C	ASN/ASP	475,3931	223.6+/-240.1	26,423,1754	89	80	83		1339	3.9	1	11	dbSNP_100	83	2437,6155	402.7+/-347.6	353,1731,2212	yes	missense	MMP27	NM_022122.2	23	379,2154,3966	TT,TC,CC		28.3636,10.7808,22.4034	benign	447/514	102562700	2912,10086	2203	4296	6499	SO:0001583	missense	64066	exon10			TAATGTCGTATTC	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1339G>A	11.37:g.102562700C>T	ENSP00000260229:p.Asp447Asn	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	136	34	0.25	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	393	0.17994505494505494	32	0.06504065040650407	78	0.2154696132596685	60	0.1048951048951049	223	0.2941952506596306	C	14.06	2.422247	0.43020	0.107808	0.283636	ENSG00000137675	ENST00000260229	T	0.14144	2.53	5.96	3.86	0.44501	Hemopexin/matrixin (2);	0.085303	0.50627	D	0.000108	T	0.00012	0.0000	L	0.41079	1.255	0.30645	P	0.75601	P	0.36974	0.576	B	0.20767	0.031	T	0.48514	-0.9029	9	0.18710	T	0.47	.	10.2161	0.43168	0.0:0.7788:0.1407:0.0804	rs2509010;rs52836586;rs2509010	447	Q9H306	MMP27_HUMAN	N	447	ENSP00000260229:D447N	ENSP00000260229:D447N	D	-	1	0	MMP27	102067910	0.990000	0.36364	0.980000	0.43619	0.808000	0.45660	1.080000	0.30779	2.819000	0.97034	0.585000	0.79938	GAC	C|0.800;T|0.200	0.200	strong		0.333	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		T	102562700	C	T	102562700	3	4	23	1	0	0	0	0	1	0	0	0	9664	884	31	1	206	1	MMP27	11	102562700	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	366716	102562700	32443816	2880	19336										
MMP27	64066	hgsc.bcm.edu	37	chr11	102563739	102563739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaccactctctgcgggaaCcctttgtccatggtttgggt	10	11	1	0	rs1276289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102563739C>T	ENST00000260229.4	-	9	1318	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	409					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCTGCGGGAACCCTTTGTCCA	0.438													C|||	2254	0.45008	0.2186	0.5072	5008	,	,		19176	0.629		0.4453	False		,,,				2504	0.5429				p.G409G		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	0			c.G1227A						PASS	.	C		1205,3201	419.8+/-338.8	150,905,1148	193	181	185		1227	-5.4	0.3	11	dbSNP_87	185	3891,4707	544.7+/-384.6	858,2175,1266	no	coding-synonymous	MMP27	NM_022122.2		1008,3080,2414	TT,TC,CC		45.2547,27.3491,39.1879		409/514	102563739	5096,7908	2203	4299	6502	SO:0001819	synonymous_variant	64066	exon9			CGGGAACCCTTTG	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1227G>A	11.37:g.102563739C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	163	57	0.349693	NM_022122	Q6UWK6	Silent	SNP	ENST00000260229.4	37	CCDS8319.1																																																																																			C|0.594;T|0.406	0.406	strong		0.438	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		T	102563739	C	T	102563739	2	4	23	1	0	0	0	0	0	0	0	1	9664	494	18	2		2	MMP27	11	102563739	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1039	102563739	32442777	2881	19337										
MMP27	64066	hgsc.bcm.edu	37	chr11	102567207	102567207	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcctttggcttagcaggtTccttaggcagacctcctttg	10	11	0	1	rs1276286	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102567207T>A	ENST00000260229.4	-	6	888	c.797A>T	c.(796-798)gAa>gTa	p.E266V		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	266			E -> V (in dbSNP:rs1276286). {ECO:0000269|PubMed:12975309}.		collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CTTAGCAGGTTCCTTAGGCAG	0.413													A|||	2191	0.4375	0.1725	0.5043	5008	,	,		18588	0.629		0.4443	False		,,,				2504	0.544				p.E266V		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	0			c.A797T						scavenged	.	A	VAL/GLU	1066,3340	723.7+/-409.4	113,840,1250	151	154	153		797	-1.3	0	11	dbSNP_87	153	3904,4694	606.3+/-395.1	863,2178,1258	yes	missense	MMP27	NM_022122.2	121	976,3018,2508	AA,AT,TT		45.4059,24.1943,38.219	benign	266/514	102567207	4970,8034	2203	4299	6502	SO:0001583	missense	64066	exon6			GCAGGTTCCTTAG	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.797A>T	11.37:g.102567207T>A	ENSP00000260229:p.Glu266Val	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	254	67	0.26378	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	931	0.42628205128205127	84	0.17073170731707318	169	0.46685082872928174	336	0.5874125874125874	342	0.45118733509234826	A	0.065	-1.215502	0.01542	0.241943	0.454059	ENSG00000137675	ENST00000260229	T	0.14266	2.52	5.89	-1.3	0.09259	.	3.758110	0.00837	N	0.001700	T	0.00012	0.0000	N	0.02830	-0.485	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	9	0.20046	T	0.44	.	5.2352	0.15443	0.4414:0.0:0.2808:0.2778	rs1276286;rs17800318;rs52815827;rs56490119;rs1276286	266	Q9H306	MMP27_HUMAN	V	266	ENSP00000260229:E266V	ENSP00000260229:E266V	E	-	2	0	MMP27	102072417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.450000	0.06803	-0.348000	0.08286	-1.349000	0.01238	GAA	T|0.600;A|0.400	0.400	strong		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102567207	T	A	102567207	3	1	23	1	0	0	0	0	1	0	0	0	9664	1783	62	5	764	5	MMP27	11	102567207	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3468	102567207	32439309	2882	19338										
MMP8	4317	hgsc.bcm.edu	37	chr11	102593273	102593273	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtccagagtttcctcattTggcttccccgtcacattcaa	6	13	3	1	rs12803000	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102593273T>G	ENST00000236826.3	-	2	332	c.234A>C	c.(232-234)ccA>ccC	p.P78P		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	78					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TTTCCTCATTTGGCTTCCCCG	0.458													T|||	131	0.0261581	0.0015	0.036	5008	,	,		21789	0.0089		0.0417	False		,,,				2504	0.0542				p.P78P		Atlas-SNP	.											MMP8,face,malignant_melanoma,-2,1	MMP8	68	1	0			c.A234C						PASS	.	T		38,4368	43.1+/-76.7	0,38,2165	179	174	175		234	-5.5	0	11	dbSNP_121	175	441,8155	133.6+/-191.1	13,415,3870	no	coding-synonymous	MMP8	NM_002424.2		13,453,6035	GG,GT,TT		5.1303,0.8625,3.684		78/468	102593273	479,12523	2203	4298	6501	SO:0001819	synonymous_variant	4317	exon2			CTCATTTGGCTTC	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.234A>C	11.37:g.102593273T>G		Somatic	343	0	0		WXS	Illumina HiSeq	Phase_I	579	141	0.243523	NM_002424	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	50	0.022893772893772892	1	0.0020325203252032522	15	0.04143646408839779	3	0.005244755244755245	31	0.040897097625329816	T	9.744	1.165560	0.21538	0.008625	0.051303	ENSG00000118113	ENST00000438475	.	.	.	5.73	-5.47	0.02600	.	.	.	.	.	T	0.02571	0.0078	.	.	.	0.28932	N	0.891481	.	.	.	.	.	.	T	0.28586	-1.0039	4	.	.	.	.	1.8071	0.03083	0.1913:0.251:0.3608:0.1968	rs12803000;rs12803000	.	.	.	Q	54	.	.	K	-	1	0	MMP8	102098483	0.000000	0.05858	0.021000	0.16686	0.916000	0.54674	-2.650000	0.00858	-0.504000	0.06577	0.533000	0.62120	AAA	T|0.966;G|0.034	0.034	strong		0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		G	102593273	T	G	102593273	2	3	23	1	0	0	0	0	0	0	0	1	9668	1799	63	5		5	MMP8	11	102593273	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26066	102593273	32413243	2883	19339										
MMP8	4317	hgsc.bcm.edu	37	chr11	102595579	102595579	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaatggaagcgtcttcaggGagaacatgatcttctcttca	10	8	5	2	rs17099450	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102595579G>C	ENST00000236826.3	-	1	106	c.8C>G	c.(7-9)tCc>tGc	p.S3C		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	3			S -> C (in dbSNP:rs17099450). {ECO:0000269|Ref.2}.		collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CGTCTTCAGGGAGAACATGAT	0.468													G|||	199	0.0397364	0.0514	0.0389	5008	,	,		18266	0.0089		0.0417	False		,,,				2504	0.0542				p.S3C		Atlas-SNP	.											.	MMP8	68	.	0			c.C8G						PASS	.	G	CYS/SER	213,4193	130.2+/-166.9	7,199,1997	147	154	152		8	-10.2	0	11	dbSNP_123	152	441,8157	133.9+/-191.4	13,415,3871	yes	missense	MMP8	NM_002424.2	112	20,614,5868	CC,CG,GG		5.1291,4.8343,5.0292	benign	3/468	102595579	654,12350	2203	4299	6502	SO:0001583	missense	4317	exon1			TTCAGGGAGAACA	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.8C>G	11.37:g.102595579G>C	ENSP00000236826:p.Ser3Cys	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	335	80	0.238806	NM_002424	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	73	0.033424908424908424	23	0.046747967479674794	16	0.04419889502762431	3	0.005244755244755245	31	0.040897097625329816	G	11.83	1.756524	0.31137	0.048343	0.051291	ENSG00000118113	ENST00000236826	T	0.13901	2.55	5.26	-10.2	0.00374	.	5.605950	0.00166	N	0.000000	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	10	0.52906	T	0.07	.	0.229	0.00177	0.2519:0.1874:0.2546:0.3061	rs17099450;rs52812571;rs17099450	3	P22894	MMP8_HUMAN	C	3	ENSP00000236826:S3C	ENSP00000236826:S3C	S	-	2	0	MMP8	102100789	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.482000	0.02320	-1.792000	0.01259	-1.067000	0.02272	TCC	G|0.946;C|0.054	0.054	strong		0.468	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		C	102595579	G	C	102595579	3	2	23	1	0	0	0	0	1	0	0	0	9668	1174	41	4	1435	4	MMP8	11	102595579	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2306	102595579	32410937	2884	19340										
MMP10	4319	hgsc.bcm.edu	37	chr11	102650389	102650389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaaggaacttctgcattcCttggatttttttaacaatga	6	9	1	1	rs17293607	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102650389C>T	ENST00000279441.4	-	2	229	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	65			G -> R (in dbSNP:rs17293607). {ECO:0000269|Ref.5}.		collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TTCTGCATTCCTTGGATTTTT	0.433													C|||	328	0.0654952	0.0106	0.0922	5008	,	,		18822	0.0228		0.159	False		,,,				2504	0.0685				p.G65R		Atlas-SNP	.											.	MMP10	44	.	0			c.G193A	GRCh37	CM065315	MMP10	M	rs17293607	PASS	.	C	ARG/GLY	139,4267	98.9+/-137.6	3,133,2067	98	84	89		193	3.3	1	11	dbSNP_123	89	1250,7348	249.7+/-276.9	99,1052,3148	yes	missense	MMP10	NM_002425.2	125	102,1185,5215	TT,TC,CC		14.5383,3.1548,10.6813	benign	65/477	102650389	1389,11615	2203	4299	6502	SO:0001583	missense	4319	exon2			GCATTCCTTGGAT	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.193G>A	11.37:g.102650389C>T	ENSP00000279441:p.Gly65Arg	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	251	78	0.310757	NM_002425	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	176	0.08058608058608059	5	0.01016260162601626	41	0.1132596685082873	17	0.02972027972027972	113	0.14907651715039577	c	10.32	1.317349	0.23908	0.031548	0.145383	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.31769	1.48;1.48	4.25	3.34	0.38264	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.264845	0.26578	N	0.023590	T	0.00073	0.0002	N	0.02916	-0.46	0.45390	P	0.0016239999999999588	B	0.15930	0.015	B	0.17098	0.017	T	0.09185	-1.0686	9	0.66056	D	0.02	.	14.6072	0.68489	0.0:0.8532:0.1468:0.0	rs17293607;rs17860948;rs17293607	65	P09238	MMP10_HUMAN	R	65	ENSP00000279441:G65R;ENSP00000441485:G65R	ENSP00000279441:G65R	G	-	1	0	MMP10	102155599	0.956000	0.32656	0.964000	0.40570	0.019000	0.09904	2.172000	0.42463	1.154000	0.42482	-0.189000	0.12847	GGA	C|0.912;T|0.088	0.088	strong		0.433	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			T	102650389	C	T	102650389	3	4	23	1	0	0	0	0	1	0	0	0	9649	690	24	2	1273	2	MMP10	11	102650389	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	54810	102650389	32356127	2885	19341										
MMP10	4319	hgsc.bcm.edu	37	chr11	102650424	102650424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatgagattactgtcctttCttctaaactgtttcacatcc	4	11	3	1	rs486055	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102650424C>T	ENST00000279441.4	-	2	194	c.158G>A	c.(157-159)aGa>aAa	p.R53K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	53			R -> K (in dbSNP:rs486055). {ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	ACTGTCCTTTCTTCTAAACTG	0.378													C|||	227	0.0453275	0.0045	0.0663	5008	,	,		19174	0.001		0.1382	False		,,,				2504	0.0358				p.R53K		Atlas-SNP	.											.	MMP10	44	.	0			c.G158A						PASS	.	C	LYS/ARG	120,4286	87.8+/-126.4	2,116,2085	85	77	80		158	4.2	1	11	dbSNP_83	80	1343,7255	262.4+/-284.4	108,1127,3064	yes	missense	MMP10	NM_002425.2	26	110,1243,5149	TT,TC,CC		15.6199,2.7236,11.2504	benign	53/477	102650424	1463,11541	2203	4299	6502	SO:0001583	missense	4319	exon2			TCCTTTCTTCTAA	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.158G>A	11.37:g.102650424C>T	ENSP00000279441:p.Arg53Lys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	191	125	0.65445	NM_002425	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	138	0.06318681318681318	2	0.0040650406504065045	29	0.08011049723756906	0	0.0	107	0.14116094986807387	c	4.269	0.048987	0.08243	0.027236	0.156199	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.32753	1.44;1.44	4.25	4.25	0.50352	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.121332	0.37178	N	0.002214	T	0.00039	0.0001	N	0.13168	0.305	0.09310	N	1	B	0.19073	0.033	B	0.22152	0.038	T	0.34004	-0.9846	10	0.02654	T	1	.	8.6471	0.34011	0.0:0.7624:0.153:0.0845	rs486055;rs17359452;rs17860947;rs60436444;rs486055	53	P09238	MMP10_HUMAN	K	53	ENSP00000279441:R53K;ENSP00000441485:R53K	ENSP00000279441:R53K	R	-	2	0	MMP10	102155634	0.000000	0.05858	0.977000	0.42913	0.046000	0.14306	0.542000	0.23222	2.365000	0.80145	0.591000	0.81541	AGA	C|0.916;T|0.084	0.084	strong		0.378	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			T	102650424	C	T	102650424	3	4	23	1	0	0	0	0	1	0	0	0	9649	913	32	2	1308	2	MMP10	11	102650424	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	35	102650424	32356092	2886	19342										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	102991197	102991197	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttggctattagaacaattCatgagaagtttctctatttt	6	6	3	2	rs17301182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:102991197C>T	ENST00000375735.2	+	7	1165	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.H341Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H341Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	341	Stem. {ECO:0000250}.		H -> Y (in dbSNP:rs17301182).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAGAACAATTCATGAGAAGTT	0.318													C|||	359	0.0716853	0.0053	0.0908	5008	,	,		14191	0.0933		0.1252	False		,,,				2504	0.0706				p.H341Y		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.C1021T						PASS	.	C	TYR/HIS,TYR/HIS	124,3480		2,120,1680	100	100	100		1021,1021	4	1	11	dbSNP_123	100	937,7189		59,819,3185	yes	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	83,83	61,939,4865	TT,TC,CC		11.5309,3.4406,9.0452	benign,benign	341/4315,341/4308	102991197	1061,10669	1802	4063	5865	SO:0001583	missense	79659	exon7			ACAATTCATGAGA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1021C>T	11.37:g.102991197C>T	ENSP00000364887:p.His341Tyr	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	137	102	0.744526	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	192	0.08791208791208792	5	0.01016260162601626	33	0.09116022099447514	49	0.08566433566433566	105	0.13852242744063326	C	10.31	1.313794	0.23908	0.034406	0.115309	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.59502	0.26;0.26;0.26	4.89	3.95	0.45737	Dynein heavy chain, domain-1 (1);	0.698644	0.12319	U	0.479443	T	0.00666	0.0022	L	0.49350	1.555	0.23473	P	0.99760364	P;B;B	0.41848	0.763;0.085;0.087	B;B;B	0.43783	0.431;0.173;0.17	T	0.17410	-1.0370	9	0.48119	T	0.1	.	14.57	0.68205	0.1474:0.8526:0.0:0.0	rs17301182;rs17301182	341;341;341	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	341	ENSP00000364887:H341Y;ENSP00000334021:H341Y;ENSP00000381167:H341Y	ENSP00000334021:H341Y	H	+	1	0	DYNC2H1	102496407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.609000	0.46317	1.142000	0.42291	0.585000	0.79938	CAT	C|0.912;N|0.001	.	strong		0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	102991197	C	T	102991197	3	4	23	1	0	0	0	0	1	0	0	0	4846	826	29	2	1047	2	DYNC2H1	11	102991197	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	340773	102991197	32015319	2887	19343										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103027234	103027234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaagacagccaaagtcgaActatgaagctgattaaagac	9	7	0	5	rs17301750	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103027234A>G	ENST00000375735.2	+	26	4006	c.3862A>G	c.(3862-3864)Act>Gct	p.T1288A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1288	Stem. {ECO:0000250}.		T -> A (in dbSNP:rs17301750).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGTCGAACTATGAAGCT	0.358													A|||	382	0.076278	0.0023	0.0922	5008	,	,		15673	0.0923		0.1233	False		,,,				2504	0.1002				p.T1288A		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.A3862G						PASS	.	A	ALA/THR,ALA/THR	97,3585		2,93,1746	96	95	95		3862,3862	4.1	1	11	dbSNP_123	95	944,7242		58,828,3207	yes	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	58,58	60,921,4953	GG,GA,AA		11.5319,2.6344,8.7715	benign,benign	1288/4315,1288/4308	103027234	1041,10827	1841	4093	5934	SO:0001583	missense	79659	exon26			AGTCGAACTATGA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3862A>G	11.37:g.103027234A>G	ENSP00000364887:p.Thr1288Ala	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	153	117	0.764706	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	190	0.08699633699633699	3	0.006097560975609756	33	0.09116022099447514	50	0.08741258741258741	104	0.13720316622691292	A	6.130	0.392124	0.11581	0.026344	0.115319	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60424	0.19;0.19	5.27	4.1	0.47936	Dynein heavy chain, domain-2 (1);	0.981166	0.08306	N	0.966220	T	0.00524	0.0017	L	0.54323	1.7	0.38246	P	0.05853600000000003	B;B	0.11235	0.004;0.004	B;B	0.16722	0.016;0.014	T	0.18681	-1.0329	9	0.08599	T	0.76	.	11.2807	0.49192	0.8632:0.0:0.0:0.1368	rs17301750;rs52791460;rs17301750	1288;1288	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	A	1288	ENSP00000364887:T1288A;ENSP00000381167:T1288A	ENSP00000364887:T1288A	T	+	1	0	DYNC2H1	102532444	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.416000	0.59815	0.796000	0.33947	0.460000	0.39030	ACT	A|0.912;G|0.088	0.088	strong		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103027234	A	G	103027234	3	3	23	1	0	0	0	0	1	0	0	0	4846	43	2	2	3964	2	DYNC2H1	11	103027234	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	36037	103027234	31979282	2888	19344										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103082558	103082558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatttttattaatccatgaAtcttgtaaagcatatggtgc	6	6	2	1	rs17394217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103082558A>G	ENST00000375735.2	+	54	8724	c.8580A>G	c.(8578-8580)gaA>gaG	p.E2860E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.E2860E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2860	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAATCCATGAATCTTGTAAAG	0.264													A|||	389	0.0776757	0.0023	0.0922	5008	,	,		14624	0.0923		0.1243	False		,,,				2504	0.1063				p.E2860E		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.A8580G						PASS	.	A	,	85,3421		2,81,1670	29	26	27		8580,8580	-3.2	1	11	dbSNP_123	27	847,7065		40,767,3149	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	42,848,4819	GG,GA,AA		10.7053,2.4244,8.1626	,	2860/4315,2860/4308	103082558	932,10486	1753	3956	5709	SO:0001819	synonymous_variant	79659	exon54			CCATGAATCTTGT	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8580A>G	11.37:g.103082558A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	157	115	0.732484	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			A|0.913;G|0.087	0.087	strong		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103082558	A	G	103082558	2	3	23	1	0	0	0	0	0	0	0	1	4846	98	4	2		2	DYNC2H1	11	103082558	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	55324	103082558	31923958	2889	19345										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103124135	103124135	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgcagcttccattgttacTgaggttaactttactacaac	7	9	0	1	rs11225634	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103124135T>G	ENST00000375735.2	+	66	10308	c.10164T>G	c.(10162-10164)acT>acG	p.T3388T	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.T3395T	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3388	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATTGTTACTGAGGTTAACT	0.348													T|||	907	0.18111	0.3752	0.1254	5008	,	,		15809	0.0933		0.1252	False		,,,				2504	0.1063				p.T3395T		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.T10185G						PASS	.	T	,	1168,2482		189,790,846	109	105	106		10185,10164	0.5	1	11	dbSNP_120	106	955,7229		63,829,3200	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	252,1619,4046	GG,GT,TT		11.6691,32.0,17.9398	,	3395/4315,3388/4308	103124135	2123,9711	1825	4092	5917	SO:0001819	synonymous_variant	79659	exon67			TGTTACTGAGGTT	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10164T>G	11.37:g.103124135T>G		Somatic	289	1	0.00346021		WXS	Illumina HiSeq	Phase_I	432	294	0.680556	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			T|0.824;G|0.176	0.176	strong		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103124135	T	G	103124135	2	3	23	1	0	0	0	0	0	0	0	1	4846	1567	55	5		5	DYNC2H1	11	103124135	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	41577	103124135	31882381	2890	19346										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103152919	103152919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcaataggaatgggatacGtttacaggtgtggttgttgg	14	3	1	0	rs12574626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103152919G>A	ENST00000375735.2	+	72	10917	c.10773G>A	c.(10771-10773)acG>acA	p.T3591T	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.T3598T	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3591					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATGGGATACGTTTACAGGTG	0.284													G|||	970	0.19369	0.4198	0.1282	5008	,	,		15088	0.0913		0.1272	False		,,,				2504	0.1084				p.T3598T		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.G10794A						PASS	.	G	,	1299,2303		234,831,736	87	88	88		10794,10773	-11.7	0.6	11	dbSNP_120	88	952,7168		62,828,3170	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	296,1659,3906	AA,AG,GG		11.7241,36.0633,19.2032	,	3598/4315,3591/4308	103152919	2251,9471	1801	4060	5861	SO:0001819	synonymous_variant	79659	exon73			GGATACGTTTACA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10773G>A	11.37:g.103152919G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	73	53	0.726027	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			G|0.808;A|0.192	0.192	strong		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103152919	G	A	103152919	2	1	23	1	0	0	0	0	0	0	0	1	4846	1132	40	1		1	DYNC2H1	11	103152919	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28784	103152919	31853597	2891	19347										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103158278	103158278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taagattcttgtagtacaggCgctaagaccggacagattgc	11	8	1	3	rs10895391	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103158278C>T	ENST00000375735.2	+	75	11183	c.11039C>T	c.(11038-11040)gCg>gTg	p.A3680V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3687V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3680			A -> V (in dbSNP:rs10895391). {ECO:0000269|PubMed:12056414}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTAGTACAGGCGCTAAGACCG	0.328													C|||	1434	0.286342	0.1725	0.2464	5008	,	,		17114	0.3016		0.338	False		,,,				2504	0.3998				p.A3687V		Atlas-SNP	.											DYNC2H1_ENST00000398093,colon,carcinoma,-1,1	DYNC2H1	246	1	0			c.C11060T						PASS	.	C	VAL/ALA,VAL/ALA	742,2904		81,580,1162	89	83	85		11060,11039	5.8	1	11	dbSNP_120	85	2869,5279		511,1847,1716	yes	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	64,64	592,2427,2878	TT,TC,CC		35.2111,20.3511,30.6173	benign,benign	3687/4315,3680/4308	103158278	3611,8183	1823	4074	5897	SO:0001583	missense	79659	exon76			TACAGGCGCTAAG	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11039C>T	11.37:g.103158278C>T	ENSP00000364887:p.Ala3680Val	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	352	214	0.607955	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	608	0.2783882783882784	90	0.18292682926829268	102	0.281767955801105	157	0.2744755244755245	259	0.341688654353562	C	21.8	4.207195	0.79127	0.203511	0.352111	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.09911	2.93;2.93	5.79	5.79	0.91817	Dynein heavy chain (1);	0.054526	0.64402	D	0.000001	T	0.00012	0.0000	M	0.63428	1.95	0.09310	P	0.9999999859533	P;P	0.46656	0.596;0.882	B;B	0.38655	0.201;0.278	T	0.53143	-0.8480	9	0.45353	T	0.12	.	19.6264	0.95679	0.0:1.0:0.0:0.0	rs10895391;rs52827900;rs58780461;rs10895391	3680;3687	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	3680;3687	ENSP00000364887:A3680V;ENSP00000381167:A3687V	ENSP00000364887:A3680V	A	+	2	0	DYNC2H1	102663488	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.123000	0.71614	2.746000	0.94184	0.655000	0.94253	GCG	C|0.709;T|0.291	0.291	strong		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103158278	C	T	103158278	3	4	23	1	0	0	0	0	1	0	0	0	4846	768	27	1	11362	1	DYNC2H1	11	103158278	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5359	103158278	31848238	2892	19348										
PDGFD	80310	hgsc.bcm.edu	37	chr11	103780455	103780455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgagctgcagatacaatcAcatcgttcatggtgatccaa	8	10	2	3	rs10791649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:103780455A>G	ENST00000393158.2	-	7	1259	c.1080T>C	c.(1078-1080)tgT>tgC	p.C360C	PDGFD_ENST00000302251.5_Silent_p.C354C			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	360					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGATACAATCACATCGTTCAT	0.453													G|||	2311	0.461462	0.5106	0.3487	5008	,	,		22084	0.4603		0.4523	False		,,,				2504	0.4857				p.C360C		Atlas-SNP	.											.	PDGFD	125	.	0			c.T1080C						PASS	.	G	,	2120,2284	600.3+/-389.5	509,1102,591	324	263	284		1080,1062	-5.4	0.3	11	dbSNP_120	284	4117,4481	591.2+/-392.8	999,2119,1181	no	coding-synonymous,coding-synonymous	PDGFD	NM_025208.4,NM_033135.3	,	1508,3221,1772	GG,GA,AA		47.8832,48.1381,47.9695	,	360/371,354/365	103780455	6237,6765	2202	4299	6501	SO:0001819	synonymous_variant	80310	exon7			ACAATCACATCGT	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1080T>C	11.37:g.103780455A>G		Somatic	237	1	0.00421941		WXS	Illumina HiSeq	Phase_I	296	204	0.689189	NM_025208	A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	CCDS41703.1																																																																																			A|0.527;G|0.473	0.473	strong		0.453	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		G	103780455	A	G	103780455	2	3	23	1	0	0	0	0	0	0	0	1	11660	157	6	2		2	PDGFD	11	103780455	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	622177	103780455	31226061	2893	19349										
CASP1	834	hgsc.bcm.edu	37	chr11	104900488	104900488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagattgcattgagttgtaGtatatctgggacttgctcag	11	5	2	2	rs580253	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:104900488G>A	ENST00000533400.1	-	6	801	c.766C>T	c.(766-768)Cta>Tta	p.L256L	CASP1_ENST00000598974.1_Silent_p.L256L|CASP1_ENST00000446369.1_Silent_p.L163L|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Silent_p.L256L|CASP1_ENST00000534497.1_Silent_p.L163L|CASP1_ENST00000525825.1_Silent_p.L235L|CASP1_ENST00000527979.1_Silent_p.L219L|CASP1_ENST00000526568.1_Silent_p.L163L|CASP1_ENST00000393136.4_Silent_p.L235L|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000593315.1_Silent_p.L235L|CASP1_ENST00000528974.1_Silent_p.L217L|CASP1_ENST00000594519.1_Silent_p.L163L	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	256					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTGAGTTGTAGTATATCTGGG	0.468													.|||	580	0.115815	0.0893	0.2464	5008	,	,		19797	0.006		0.1759	False		,,,				2504	0.1104				p.L256L	NSCLC(41;1246 1743 4934)	Atlas-SNP	.											.	CASP1	53	.	0			c.C766T						PASS	.	A	,,,,	420,3984		18,384,1800	140	125	130		703,766,487,487,	1.1	0	11	dbSNP_83	130	1409,7189		125,1159,3015	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	CASP1	NM_001223.3,NM_033292.2,NM_033293.2,NM_033294.2,NM_033295.2	,,,,	143,1543,4815	AA,AG,GG		16.3875,9.5368,14.0671	,,,,	235/384,256/405,163/312,163/264,	104900488	1829,11173	2202	4299	6501	SO:0001819	synonymous_variant	834	exon6			GTTGTAGTATATC	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.766C>T	11.37:g.104900488G>A		Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	492	137	0.278455	NM_001257118	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	CCDS8330.1																																																																																			G|0.867;A|0.133	0.133	strong		0.468	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104900488	G	A	104900488	2	1	23	1	0	0	0	0	0	0	0	1	2668	1020	36	2		2	CASP1	11	104900488	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1120033	104900488	30106028	2894	19350										
CARD16	114769	hgsc.bcm.edu	37	chr11	104912221	104912221	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaaggggagcagaagtatgTtcctccagaaccgctcaata	11	10	1	2	rs542571	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:104912221T>A	ENST00000375706.2	-	3	517	c.500A>T	c.(499-501)aAc>aTc	p.N167I	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	167			N -> I (in dbSNP:rs542571).		regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAAGTATGTTCCTCCAGAA	0.368													.|||	1095	0.21865	0.4244	0.2939	5008	,	,		20036	0.0069		0.1799	False		,,,				2504	0.1452				p.N167I		Atlas-SNP	.											.	CARD16	29	.	0			c.A500T						PASS	.	A	,ILE/ASN	1699,2705		340,1019,843	81	83	82		,500	0.2	0	11	dbSNP_83	82	1428,7170		130,1168,3001	yes	utr-3,missense	CARD16	NM_052889.2,NM_001017534.1	,149	470,2187,3844	AA,AT,TT		16.6085,38.5786,24.0501	,benign	,167/198	104912221	3127,9875	2202	4299	6501	SO:0001583	missense	114769	exon3			AGTATGTTCCTCC		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.500A>T	11.37:g.104912221T>A	ENSP00000364858:p.Asn167Ile	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	158	46	0.291139	NM_001017534	Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	CCDS31661.1	433	0.19826007326007325	205	0.4166666666666667	100	0.27624309392265195	2	0.0034965034965034965	126	0.1662269129287599	.	0.003	-2.417365	0.00188	0.385786	0.166085	ENSG00000204397	ENST00000375706	T	0.19394	2.15	1.36	0.171	0.15026	.	0.975408	0.08410	N	0.949995	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45160	-0.9280	9	0.07482	T	0.82	.	1.5094	0.02493	0.4768:0.0:0.2154:0.3078	rs542571;rs542571	167	Q5EG05	CAR16_HUMAN	I	167	ENSP00000364858:N167I	ENSP00000364858:N167I	N	-	2	0	CARD16	104417431	0.001000	0.12720	0.003000	0.11579	0.021000	0.10359	-0.047000	0.11963	-0.424000	0.07382	-0.827000	0.03088	AAC	T|0.776;A|0.224	0.224	strong		0.368	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			A	104912221	T	A	104912221	3	1	23	1	0	0	0	0	1	0	0	0	2647	1725	60	5	97	5	CARD16	11	104912221	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11733	104912221	30094295	2895	19351										
GUCY1A2	2977	hgsc.bcm.edu	37	chr11	106558291	106558291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctcagaggcttgtctccCggaggaacatggtgccgatg	15	10	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:106558291C>A	ENST00000526355.2	-	8	2651	c.2183G>T	c.(2182-2184)cGg>cTg	p.R728L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R759L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R749L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	728					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GCTTGTCTCCCGGAGGAACAT	0.488																																					p.R759L		Atlas-SNP	.											GUCY1A2,colon,carcinoma,0,2	GUCY1A2	180	2	0			c.G2276T						scavenged	.						137	135	135					11																	106558291		2201	4298	6499	SO:0001583	missense	2977	exon9			GTCTCCCGGAGGA	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2183G>T	11.37:g.106558291C>A	ENSP00000431245:p.Arg728Leu	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	186	3	0.016129	NM_001256424	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796385	0.90453	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89050	-2.01;-2.46;-2.02	5.31	5.31	0.75309	.	0.000000	0.39985	U	0.001210	D	0.91068	0.7189	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.987;0.994;0.987	D	0.92216	0.5780	10	0.72032	D	0.01	.	18.3247	0.90250	0.0:1.0:0.0:0.0	.	749;759;728	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	728;759;749	ENSP00000431245:R728L;ENSP00000282249:R759L;ENSP00000344874:R749L	ENSP00000282249:R759L	R	-	2	0	GUCY1A2	106063501	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.385000	0.79763	2.654000	0.90174	0.305000	0.20034	CGG	.	.	none		0.488	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			A	106558291	C	A	106558291	3	1	23	1	0	0	0	0	1	0	0	0	6893	652	23	4	19	4	GUCY1A2	11	106558291	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1646070	106558291	28448225	2896	19352										
ALKBH8	91801	hgsc.bcm.edu	37	chr11	107375703	107375703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctgagagtcattaatgCgggggacagaagatgccgag	14	8	1	3	rs139390837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:107375703C>T	ENST00000428149.2	-	12	1827	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	ALKBH8_ENST00000389568.3_Missense_Mutation_p.R559H|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.R562H	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	559	Methyltransferase domain.				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)		GTCATTAATGCGGGGGACAGA	0.453													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		20733	0.0		0.001	False		,,,				2504	0.0				p.R559H		Atlas-SNP	.											.	ALKBH8	88	.	0			c.G1676A						PASS	.	C	HIS/ARG	1,1383		0,1,691	118	98	104		1676	2.1	0	11	dbSNP_134	104	0,3182		0,0,1591	yes	missense	ALKBH8	NM_138775.2	29	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	benign	559/665	107375703	1,4565	692	1591	2283	SO:0001583	missense	91801	exon12			TTAATGCGGGGGA	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.1676G>A	11.37:g.107375703C>T	ENSP00000415885:p.Arg559His	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	133	36	0.270677	NM_138775	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	4	0.0018315018315018315	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	4.450	0.083419	0.08533	7.23E-4	0.0	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.45668	0.89;0.89;0.89	5.07	2.13	0.27403	.	0.956250	0.08831	N	0.887349	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.001	B;B	0.08055	0.003;0.0	T	0.18272	-1.0342	10	0.42905	T	0.14	-2.6235	4.1101	0.10055	0.0872:0.3134:0.4508:0.1486	.	559;562	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	H	559;559;562	ENSP00000415885:R559H;ENSP00000374219:R559H;ENSP00000397673:R562H	ENSP00000374219:R559H	R	-	2	0	ALKBH8	106880913	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.511000	0.06321	0.241000	0.21283	-0.865000	0.03005	CGC	C|0.998;T|0.002	0.002	strong		0.453	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		T	107375703	C	T	107375703	3	4	23	1	0	0	0	0	1	0	0	0	533	768	27	1	322	1	ALKBH8	11	107375703	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	817412	107375703	27630813	2897	19353										
ELMOD1	55531	hgsc.bcm.edu	37	chr11	107535758	107535758	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtctccaacaggctatttGatgcatgaatttcataagtt	7	7	2	2	rs647756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:107535758G>A	ENST00000265840.7	+	12	1105	c.840G>A	c.(838-840)ttG>ttA	p.L280L	ELMOD1_ENST00000531234.1_Silent_p.L274L|ELMOD1_ENST00000443271.2_Silent_p.L272L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	280	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGGCTATTTGATGCATGAAT	0.378													G|||	1440	0.28754	0.6445	0.17	5008	,	,		18636	0.3234		0.0437	False		,,,				2504	0.1022				p.L280L		Atlas-SNP	.											.	ELMOD1	40	.	0			c.G840A						PASS	.	G	,	2085,1625		577,931,347	116	122	121		816,840	6	1	11	dbSNP_83	121	476,7728		17,442,3643	no	coding-synonymous,coding-synonymous	ELMOD1	NM_001130037.1,NM_018712.3	,	594,1373,3990	AA,AG,GG		5.802,43.8005,21.4957	,	272/327,280/335	107535758	2561,9353	1855	4102	5957	SO:0001819	synonymous_variant	55531	exon12			CTATTTGATGCAT	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.840G>A	11.37:g.107535758G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	134	41	0.30597	NM_018712	B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	CCDS44723.1																																																																																			G|0.697;A|0.303	0.303	strong		0.378	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		A	107535758	G	A	107535758	2	1	23	1	0	0	0	0	0	0	0	1	5068	1281	45	2		2	ELMOD1	11	107535758	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	160055	107535758	27470758	2898	19354										
NPAT	4863	hgsc.bcm.edu	37	chr11	108044204	108044204	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattggtatatcaggctgatCaggctgtaactgagattcac	10	7	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:108044204C>G	ENST00000278612.8	-	13	1612	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	503					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCAGGCTGATCAGGCTGTAAC	0.368																																					p.D503H		Atlas-SNP	.											.	NPAT	124	.	0			c.G1507C						PASS	.						127	122	123					11																	108044204		1867	4096	5963	SO:0001583	missense	4863	exon13			GCTGATCAGGCTG	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1507G>C	11.37:g.108044204C>G	ENSP00000278612:p.Asp503His	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	386	99	0.256477	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	4.278	0.050716	0.08243	.	.	ENSG00000149308	ENST00000278612	T	0.28069	1.63	6.08	4.21	0.49690	.	0.380295	0.29493	N	0.011997	T	0.44265	0.1285	M	0.62723	1.935	0.29803	N	0.832279	D;P	0.56287	0.975;0.956	P;P	0.56960	0.81;0.551	T	0.46289	-0.9202	10	0.62326	D	0.03	-4.1581	9.7917	0.40710	0.1397:0.7908:0.0:0.0695	.	503;503	B9EG70;Q14207	.;NPAT_HUMAN	H	503	ENSP00000278612:D503H	ENSP00000278612:D503H	D	-	1	0	NPAT	107549414	0.946000	0.32159	0.671000	0.29857	0.037000	0.13140	0.380000	0.20602	0.897000	0.36392	-0.181000	0.13052	GAT	.	.	none		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		G	108044204	C	G	108044204	3	3	23	1	0	0	0	0	1	0	0	0	10566	826	29	4	2800	4	NPAT	11	108044204	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	508446	108044204	26962312	2899	19355										
ATM	472	hgsc.bcm.edu	37	chr11	108106435	108106435	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaagaactcttaaattatAtcatggatacagtgaaagat	7	5	3	3	rs148590073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:108106435A>G	ENST00000452508.2	+	6	559	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	ATM_ENST00000278616.4_Missense_Mutation_p.I124V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	124					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTAAATTATATCATGGATAC	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A|||	7	0.00139776	0.0053	0.0	5008	,	,		18157	0.0		0.0	False		,,,				2504	0.0				p.I124V		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM	1657	.	0			c.A370G	GRCh37	CD000908	ATM	D	rs148590073	PASS	.	A	VAL/ILE	35,4367	40.0+/-72.8	0,35,2166	113	116	115		370	0.4	1	11	dbSNP_134	115	0,8596		0,0,4298	yes	missense	ATM	NM_000051.3	29	0,35,6464	GG,GA,AA		0.0,0.7951,0.2693	benign	124/3057	108106435	35,12963	2201	4298	6499	SO:0001583	missense	472	exon5	Familial Cancer Database	AT, Louis-Bar syndrome	AATTATATCATGG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.370A>G	11.37:g.108106435A>G	ENSP00000388058:p.Ile124Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	212	64	0.301887	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	5.116	0.207058	0.09704	0.007951	0.0	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.70045	-0.45;-0.45;-0.45	5.62	0.39	0.16275	Telomere-length maintenance and DNA damage repair (1);	0.272984	0.36101	N	0.002796	T	0.18130	0.0435	N	0.00801	-1.175	0.22581	N	0.998968	B	0.06786	0.001	B	0.08055	0.003	T	0.31724	-0.9933	10	0.06494	T	0.89	.	5.4836	0.16737	0.294:0.0:0.5308:0.1751	.	124	Q13315	ATM_HUMAN	V	124	ENSP00000435747:I124V;ENSP00000278616:I124V;ENSP00000388058:I124V	ENSP00000278616:I124V	I	+	1	0	ATM	107611645	0.996000	0.38824	0.976000	0.42696	0.990000	0.78478	0.866000	0.27954	0.174000	0.19809	0.477000	0.44152	ATC	A|0.997;G|0.003	0.003	strong		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108106435	A	G	108106435	3	3	23	1	0	0	0	0	1	0	0	0	1109	449	16	2	384	2	ATM	11	108106435	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	62231	108106435	26900081	2900	19356										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108383560	108383560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagcatcaagggaagaatTctttgatggtgaggaatctg	14	4	3	3	rs10890850	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:108383560T>A	ENST00000265843.4	-	6	2784	c.2674A>T	c.(2674-2676)Aat>Tat	p.N892Y	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.N704Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.N885Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.N816Y	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	892			N -> Y (in dbSNP:rs10890850).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGGAAGAATTCTTTGATGGT	0.438													T|||	270	0.0539137	0.1316	0.0115	5008	,	,		19382	0.0119		0.002	False		,,,				2504	0.0757				p.N892Y		Atlas-SNP	.											.	EXPH5	193	.	0			c.A2674T						PASS	.	T	TYR/ASN	493,3909	229.8+/-244.2	29,435,1737	182	167	172		2674	-2	0	11	dbSNP_120	172	9,8587	7.1+/-27.0	0,9,4289	yes	missense	EXPH5	NM_015065.2	143	29,444,6026	AA,AT,TT		0.1047,11.1995,3.8621	benign	892/1990	108383560	502,12496	2201	4298	6499	SO:0001583	missense	23086	exon6			AAGAATTCTTTGA		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2674A>T	11.37:g.108383560T>A	ENSP00000265843:p.Asn892Tyr	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	211	60	0.28436	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	59	0.027014652014652016	46	0.09349593495934959	5	0.013812154696132596	7	0.012237762237762238	1	0.0013192612137203166	T	14.92	2.680490	0.47886	0.111995	0.001047	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04603	4.17;4.1;3.95;4.17;4.02;3.59	5.74	-1.97	0.07503	.	0.712890	0.13437	N	0.387972	T	0.00109	0.0003	L	0.44542	1.39	0.09310	N	1	P	0.49090	0.919	B	0.43445	0.42	T	0.40813	-0.9543	10	0.72032	D	0.01	-0.8859	6.5046	0.22188	0.0:0.4682:0.1578:0.3739	rs10890850;rs10890850	892	Q8NEV8	EXPH5_HUMAN	Y	892;816;704;885;816;704	ENSP00000265843:N892Y;ENSP00000391966:N816Y;ENSP00000411390:N704Y;ENSP00000432546:N885Y;ENSP00000432683:N816Y;ENSP00000446434:N704Y	ENSP00000265843:N892Y	N	-	1	0	EXPH5	107888770	0.000000	0.05858	0.002000	0.10522	0.230000	0.25150	-0.173000	0.09854	-0.270000	0.09285	0.460000	0.39030	AAT	T|0.967;A|0.033	0.033	strong		0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108383560	T	A	108383560	3	1	23	1	0	0	0	0	1	0	0	0	5322	1783	62	5	3299	5	EXPH5	11	108383560	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	277125	108383560	26622956	2901	19357										
HTR3B	9177	hgsc.bcm.edu	37	chr11	113803108	113803108	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaggtggtctctgcgtgcAgtttagagacatatgctttt	11	8	1	1	rs72466469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:113803108A>C	ENST00000260191.2	+	5	723	c.466A>C	c.(466-468)Agt>Cgt	p.S156R	HTR3B_ENST00000537778.1_Missense_Mutation_p.S145R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	156			S -> R (in dbSNP:rs72466469). {ECO:0000269|PubMed:15293096, ECO:0000269|PubMed:15389765, ECO:0000269|PubMed:21179162}.		cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CTCTGCGTGCAGTTTAGAGAC	0.438													A|||	9	0.00179712	0.0	0.0043	5008	,	,		21219	0.0		0.006	False		,,,				2504	0.0				p.S156R		Atlas-SNP	.											.	HTR3B	50	.	0			c.A466C	GRCh37	CM083528	HTR3B	M	rs72466469	PASS	.	A	ARG/SER	2,4400	2.1+/-5.4	0,2,2199	179	153	162		466	0.7	0.2	11	dbSNP_130	162	69,8523	41.7+/-99.0	2,65,4229	yes	missense	HTR3B	NM_006028.4	110	2,67,6428	CC,CA,AA		0.8031,0.0454,0.5464	possibly-damaging	156/442	113803108	71,12923	2201	4296	6497	SO:0001583	missense	9177	exon5			GCGTGCAGTTTAG	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.466A>C	11.37:g.113803108A>C	ENSP00000260191:p.Ser156Arg	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	345	220	0.637681	NM_006028	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	CCDS8364.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	A	16.36	3.101980	0.56183	4.54E-4	0.008031	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.79554	-1.28;-1.28	5.82	0.729	0.18266	Neurotransmitter-gated ion-channel ligand-binding (3);	0.421195	0.29473	N	0.012047	T	0.75317	0.3833	L	0.52905	1.665	0.33014	D	0.527966	D;P	0.56287	0.975;0.934	P;P	0.59643	0.861;0.643	T	0.77107	-0.2710	10	0.37606	T	0.19	-0.5361	4.9411	0.13965	0.6577:0.0:0.2158:0.1265	.	145;156	O95264-2;O95264	.;5HT3B_HUMAN	R	156;145	ENSP00000260191:S156R;ENSP00000443118:S145R	ENSP00000260191:S156R	S	+	1	0	HTR3B	113308318	0.181000	0.23161	0.166000	0.22797	0.877000	0.50540	0.873000	0.28052	0.144000	0.18951	-0.376000	0.06991	AGT	A|0.996;C|0.004	0.004	strong		0.438	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		C	113803108	A	C	113803108	3	2	23	1	0	0	0	0	1	0	0	0	7445	188	7	5	484	5	HTR3B	11	113803108	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5419548	113803108	21203408	2902	19358										
HTR3B	9177	hgsc.bcm.edu	37	chr11	113803666	113803666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgtttgcagtggaagacGtagacctggcctttctgagg	14	7	1	3	rs17116138	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:113803666G>A	ENST00000260191.2	+	6	804	c.547G>A	c.(547-549)Gta>Ata	p.V183I	HTR3B_ENST00000537778.1_Missense_Mutation_p.V172I	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	183			V -> I (in dbSNP:rs17116138). {ECO:0000269|PubMed:15293096, ECO:0000269|PubMed:15389765, ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AGTGGAAGACGTAGACCTGGC	0.463													G|||	227	0.0453275	0.0734	0.0663	5008	,	,		18515	0.0		0.0408	False		,,,				2504	0.044				p.V183I		Atlas-SNP	.											.	HTR3B	50	.	0			c.G547A	GRCh37	CM083529	HTR3B	M	rs17116138	PASS	.	G	ILE/VAL	350,4052	182.6+/-210.3	17,316,1868	135	122	126		547	-0.4	0.7	11	dbSNP_123	126	272,8320	104.2+/-165.2	5,262,4029	yes	missense	HTR3B	NM_006028.4	29	22,578,5897	AA,AG,GG		3.1657,7.9509,4.7868	benign	183/442	113803666	622,12372	2201	4296	6497	SO:0001583	missense	9177	exon6			GAAGACGTAGACC	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.547G>A	11.37:g.113803666G>A	ENSP00000260191:p.Val183Ile	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	172	42	0.244186	NM_006028	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	CCDS8364.1	99	0.04532967032967033	37	0.07520325203252033	26	0.0718232044198895	0	0.0	36	0.047493403693931395	G	3.018	-0.202429	0.06219	0.079509	0.031657	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.78364	-1.17;-1.17	6.17	-0.444	0.12245	Neurotransmitter-gated ion-channel ligand-binding (3);	0.384737	0.27609	N	0.018613	T	0.02610	0.0079	N	0.02973	-0.45	0.58432	P	8.000000000008E-6	B;B	0.18610	0.007;0.029	B;B	0.11329	0.006;0.005	T	0.14337	-1.0476	9	0.02654	T	1	-2.9447	1.6523	0.02774	0.3414:0.0995:0.3786:0.1805	rs17116138;rs56490832;rs17116138	172;183	O95264-2;O95264	.;5HT3B_HUMAN	I	183;172	ENSP00000260191:V183I;ENSP00000443118:V172I	ENSP00000260191:V183I	V	+	1	0	HTR3B	113308876	0.350000	0.24878	0.692000	0.30179	0.931000	0.56810	0.417000	0.21214	0.039000	0.15632	0.655000	0.94253	GTA	G|0.955;A|0.045	0.045	strong		0.463	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		A	113803666	G	A	113803666	3	1	23	1	0	0	0	0	1	0	0	0	7445	1145	40	1	569	1	HTR3B	11	113803666	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	558	113803666	21202850	2903	19359										
ZBTB16	7704	hgsc.bcm.edu	37	chr11	113934473	113934473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagaggaccgcaaggctCggtacctcaagaacatcttc	10	11	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:113934473C>T	ENST00000335953.4	+	2	831	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R151W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	151					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCGCAAGGCTCGGTACCTCAA	0.607																																					p.R151W		Atlas-SNP	.											ZBTB16_ENST00000335953,NS,carcinoma,-1,1	ZBTB16	101	1	0			c.C451T						scavenged	.						60	58	59					11																	113934473		2201	4296	6497	SO:0001583	missense	7704	exon2			AAGGCTCGGTACC	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.451C>T	11.37:g.113934473C>T	ENSP00000338157:p.Arg151Trp	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	92	3	0.0326087	NM_006006	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505876	0.64410	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.11821	2.74;2.74	5.67	2.46	0.29980	.	0.270914	0.34853	N	0.003626	T	0.19565	0.0470	L	0.27053	0.805	0.43598	D	0.995957	D;D	0.76494	0.999;0.999	P;P	0.59424	0.857;0.849	T	0.01516	-1.1335	10	0.40728	T	0.16	-15.6439	14.3317	0.66561	0.5505:0.4495:0.0:0.0	.	151;156	Q05516;Q59H43	ZBT16_HUMAN;.	W	151	ENSP00000338157:R151W;ENSP00000376721:R151W	ENSP00000309507:R151W	R	+	1	2	ZBTB16	113439683	0.892000	0.30473	0.998000	0.56505	0.968000	0.65278	1.785000	0.38684	0.774000	0.33427	0.655000	0.94253	CGG	.	.	none		0.607	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	113934473	C	T	113934473	3	4	23	1	0	0	0	0	1	0	0	0	17523	875	31	1	453	1	ZBTB16	11	113934473	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	130807	113934473	21072043	2904	19360										
SIK3	23387	hgsc.bcm.edu	37	chr11	116719841	116719841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggaccaacatacataagCatcgtcgctgttctggatcg	11	10	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:116719841C>T	ENST00000292055.4	-	21	3531	c.3496G>A	c.(3496-3498)Gct>Act	p.A1166T	SIK3_ENST00000375288.1_Missense_Mutation_p.A501T|SIK3_ENST00000434315.2_Missense_Mutation_p.A1005T|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.A1106T|SIK3_ENST00000446921.2_Missense_Mutation_p.A1164T|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375300.1_Missense_Mutation_p.A1224T	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1166					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CATACATAAGCATCGTCGCTG	0.602																																					p.A1166T		Atlas-SNP	.											.	SIK3	112	.	0			c.G3496A						PASS	.						170	122	139					11																	116719841		2201	4292	6493	SO:0001583	missense	23387	exon21			CATAAGCATCGTC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3496G>A	11.37:g.116719841C>T	ENSP00000292055:p.Ala1166Thr	Somatic	326	1	0.00306748		WXS	Illumina HiSeq	Phase_I	461	306	0.663774	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.921494|4.921494	0.92249|0.92249	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000454905;ENST00000446921	T;T;T;D;T|.	0.81821|.	-1.44;-1.42;0.59;-1.54;-1.17|.	5.26|5.26	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.41194|.	U|.	0.000938|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;B|.	0.89917|.	1.0;1.0;1.0;0.117|.	D;D;D;B|.	0.87578|.	0.998;0.998;0.998;0.138|.	T|T	0.52087|0.52087	-0.8622|-0.8622	10|5	0.87932|.	D|.	0|.	.|.	13.8208|13.8208	0.63320|0.63320	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	1106;1005;1166;501|.	A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;SIK3_HUMAN;.|.	T|Y	1224;1166;501;1106;1005|1265;5;1128	ENSP00000364449:A1224T;ENSP00000292055:A1166T;ENSP00000364437:A501T;ENSP00000438108:A1106T;ENSP00000415873:A1005T|.	ENSP00000292055:A1166T|.	A|C	-|-	1|2	0|0	SIK3|SIK3	116225051|116225051	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.993000|0.993000	0.82548|0.82548	7.456000|7.456000	0.80751|0.80751	1.223000|1.223000	0.43536|0.43536	0.557000|0.557000	0.71058|0.71058	GCT|TGC	.	.	none		0.602	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		T	116719841	C	T	116719841	3	4	23	1	0	0	0	0	1	0	0	0	14319	710	25	2	307	2	SIK3	11	116719841	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2785368	116719841	18286675	2905	19361										
SIDT2	51092	hgsc.bcm.edu	37	chr11	117052532	117052532	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgggccataggtttcagcgCaagtacctctaccaaaaagt	9	11	2	0	rs61729990	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117052532C>A	ENST00000324225.4	+	3	846	c.315C>A	c.(313-315)cgC>cgA	p.R105R	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Silent_p.R105R	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	105					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTTTCAGCGCAAGTACCTCT	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	23	0.00459265	0.0008	0.0072	5008	,	,		18191	0.0		0.0139	False		,,,				2504	0.0031				p.R105R		Atlas-SNP	.											SIDT2,colon,carcinoma,+1,1	SIDT2	82	1	0			c.C315A						PASS	.	C		17,4385	25.3+/-52.1	0,17,2184	87	87	87		315	-0.1	1	11	dbSNP_129	87	141,8451	70.7+/-133.2	0,141,4155	no	coding-synonymous	SIDT2	NM_001040455.1		0,158,6339	AA,AC,CC		1.6411,0.3862,1.2159		105/833	117052532	158,12836	2201	4296	6497	SO:0001819	synonymous_variant	51092	exon3			TCAGCGCAAGTAC	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.315C>A	11.37:g.117052532C>A		Somatic	98	0	0	1478	WXS	Illumina HiSeq	Phase_I	183	54	0.295082	NM_001040455	Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	CCDS31682.1																																																																																			C|0.991;A|0.009	0.009	strong		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		A	117052532	C	A	117052532	2	1	23	1	0	0	0	0	0	0	0	1	14303	697	25	4		4	SIDT2	11	117052532	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	332691	117052532	17953984	2906	19362										
TAGLN	6876	hgsc.bcm.edu	37	chr11	117074109	117074109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaccctccatggtcttcaaGcagatggagcaggtggctca	11	13	3	1	rs12970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117074109G>A	ENST00000532870.1	+	2	1408	c.267G>A	c.(265-267)aaG>aaA	p.K89K	TAGLN_ENST00000530649.1_Silent_p.K89K|PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000392951.4_Silent_p.K89K			Q01995	TAGL_HUMAN	transgelin	89	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		TGGTCTTCAAGCAGATGGAGC	0.552													G|||	372	0.0742812	0.0507	0.0605	5008	,	,		19640	0.0823		0.0706	False		,,,				2504	0.1115				p.K89K		Atlas-SNP	.											.	TAGLN	17	.	0			c.G267A						PASS	.	G	,	181,4221	115.0+/-153.0	5,171,2025	102	96	98		267,267	4.8	1	11	dbSNP_52	98	510,8082	145.6+/-201.3	12,486,3798	no	coding-synonymous,coding-synonymous	TAGLN	NM_001001522.1,NM_003186.3	,	17,657,5823	AA,AG,GG		5.9358,4.1118,5.3178	,	89/202,89/202	117074109	691,12303	2201	4296	6497	SO:0001819	synonymous_variant	6876	exon3			CTTCAAGCAGATG	M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"SM22-alpha", "transgelin variant 2"	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.267G>A	11.37:g.117074109G>A		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	305	80	0.262295	NM_001001522	O15542	Silent	SNP	ENST00000532870.1	37	CCDS8381.1	145	0.06639194139194139	25	0.0508130081300813	16	0.04419889502762431	56	0.0979020979020979	48	0.0633245382585752	G	9.991	1.230759	0.22542	0.041118	0.059358	ENSG00000149591	ENST00000529622	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	T	0.07007	0.0178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	17.4726	0.87650	0.0:0.0:1.0:0.0	rs12970;rs2230697;rs3210002;rs11216314	.	.	.	N	39	.	.	S	+	2	0	TAGLN	116579319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.647000	0.46639	2.666000	0.90696	0.561000	0.74099	AGC	G|0.941;A|0.059	0.059	strong		0.552	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522		A	117074109	G	A	117074109	2	1	23	1	0	0	0	0	0	0	0	1	15535	962	34	2		2	TAGLN	11	117074109	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21577	117074109	17932407	2907	19363										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117076875	117076875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctctctgtttccacttcGtctggatccttgctgctgca	8	14	2	0	rs139944026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117076875G>A	ENST00000320934.3	-	17	2826	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	732					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TTTCCACTTCGTCTGGATCCT	0.612			T	IGH@	MLCLS																																p.D732D		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	PCSK7	59	.	0			c.C2196T						PASS	.	G		150,4252	98.9+/-137.6	0,150,2051	61	51	55		2196	-7.2	0	11	dbSNP_134	55	433,8151	129.7+/-187.7	0,433,3859	no	coding-synonymous	PCSK7	NM_004716.2		0,583,5910	AA,AG,GG		5.0443,3.4075,4.4895		732/786	117076875	583,12403	2201	4292	6493	SO:0001819	synonymous_variant	9159	exon17			CACTTCGTCTGGA	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2196C>T	11.37:g.117076875G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	438	80	0.182648	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1																																																																																			G|0.934;A|0.066	0.066	strong		0.612	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		A	117076875	G	A	117076875	2	1	23	1	0	0	0	0	0	0	0	1	11605	1136	40	1		1	PCSK7	11	117076875	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2766	117076875	17929641	2908	19364										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgatgagggacatcatgccActggggcagaacagcttcag	13	11	2	2	rs471009		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117079654A>T	ENST00000320934.3	-	13	2280	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	550					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607			T	IGH@	MLCLS																																p.S550R		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	PCSK7,NS,carcinoma,0,2	PCSK7	59	2	0			c.T1650A						scavenged	.						59	60	59					11																	117079654		2201	4296	6497	SO:0001583	missense	9159	exon13			CATGCCACTGGGG	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1650T>A	11.37:g.117079654A>T	ENSP00000325917:p.Ser550Arg	Somatic	422	3	0.007109		WXS	Illumina HiSeq	Phase_I	424	23	0.0542453	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	CCDS8382.1	14	0.00641025641025641	4	0.008130081300813009	0	0.0	5	0.008741258741258742	5	0.006596306068601583	G	13.99	2.403210	0.42613	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.78364	-1.17;-1.17	4.68	-1.84	0.07809	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.043659	0.85682	D	0.000000	T	0.79227	0.4410	M	0.66378	2.025	0.53005	D	0.999965	D	0.69078	0.997	D	0.73380	0.98	T	0.78984	-0.1988	10	0.59425	D	0.04	-16.1089	12.2196	0.54428	0.5973:0.0:0.4027:0.0	rs471009;rs3741289	550	Q16549	PCSK7_HUMAN	R	550;191;550	ENSP00000325917:S550R;ENSP00000441944:S191R	ENSP00000325917:S550R	S	-	3	2	PCSK7	116584864	0.024000	0.19004	0.958000	0.39756	0.007000	0.05969	-0.746000	0.04829	-0.944000	0.03686	-2.386000	0.00229	AGT	A|0.994;T|0.006	0.006	strong		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		T	117079654	A	T	117079654	3	4	23	1	0	0	0	0	1	0	0	0	11605	156	6	5	727	5	PCSK7	11	117079654	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2779	117079654	17926862	2909	19365										
PCSK7	9159	hgsc.bcm.edu	37	chr11	117096652	117096652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagctctgcctcacctgcaGctgtagatgtcattgatctg	10	12	4	2	rs2277287	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117096652G>A	ENST00000320934.3	-	6	1485	c.855C>T	c.(853-855)agC>agT	p.S285S	PCSK7_ENST00000540028.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	285	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCACCTGCAGCTGTAGATGT	0.552			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1249	0.249401	0.3381	0.2666	5008	,	,		17158	0.1508		0.1928	False		,,,				2504	0.2771				p.S285S		Atlas-SNP	.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	PCSK7	59	.	0			c.C855T						PASS	.	G		1333,3069	445.7+/-347.8	189,955,1057	127	90	102		855	2.7	1	11	dbSNP_100	102	1788,6804	323.2+/-315.9	181,1426,2689	no	coding-synonymous	PCSK7	NM_004716.2		370,2381,3746	AA,AG,GG		20.8101,30.2817,24.0188		285/786	117096652	3121,9873	2201	4296	6497	SO:0001819	synonymous_variant	9159	exon6			CCTGCAGCTGTAG	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.855C>T	11.37:g.117096652G>A		Somatic	117	0	0	1478	WXS	Illumina HiSeq	Phase_I	155	43	0.277419	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1																																																																																			G|0.759;A|0.241	0.241	strong		0.552	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		A	117096652	G	A	117096652	2	1	23	1	0	0	0	0	0	0	0	1	11605	962	34	2		2	PCSK7	11	117096652	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16998	117096652	17909864	2910	19366										
CEP164	22897	hgsc.bcm.edu	37	chr11	117222691	117222691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagaaggacagagacccccCcaaaagttcgctggtgagtc	11	12	0	3	rs143659874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117222691C>A	ENST00000278935.3	+	5	527	c.380C>A	c.(379-381)cCc>cAc	p.P127H		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	127	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGACCCCCCCAAAAGTTCG	0.517													C|||	9	0.00179712	0.0	0.0014	5008	,	,		16611	0.0		0.008	False		,,,				2504	0.0				p.P127H		Atlas-SNP	.											.	CEP164	121	.	0			c.C380A						PASS	.	C	HIS/PRO	3,4385		0,3,2191	21	23	22		380	4.9	0.1	11	dbSNP_134	22	39,8503		0,39,4232	yes	missense	CEP164	NM_014956.4	77	0,42,6423	AA,AC,CC		0.4566,0.0684,0.3248	possibly-damaging	127/1461	117222691	42,12888	2194	4271	6465	SO:0001583	missense	22897	exon4			ACCCCCCCAAAAG	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.380C>A	11.37:g.117222691C>A	ENSP00000278935:p.Pro127His	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	49	38	0.77551	NM_001271933	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	10.48	1.362097	0.24684	6.84E-4	0.004566	ENSG00000110274	ENST00000533153;ENST00000278935;ENST00000525416;ENST00000545330;ENST00000529538	T;T;T	0.63744	-0.05;0.32;-0.06	5.81	4.89	0.63831	.	1.313720	0.05171	N	0.499480	T	0.60945	0.2308	L	0.36672	1.1	0.09310	N	1	P;P;D;P	0.63046	0.947;0.906;0.992;0.924	B;B;P;P	0.53146	0.36;0.258;0.719;0.562	T	0.57551	-0.7792	9	.	.	.	-0.0023	14.4821	0.67590	0.0:0.6025:0.3975:0.0	.	127;81;127;127	E9PI34;B7Z884;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	H	81;127;81;81;127	ENSP00000436034:P81H;ENSP00000278935:P127H;ENSP00000435759:P81H	.	P	+	2	0	CEP164	116727901	0.001000	0.12720	0.138000	0.22173	0.013000	0.08279	1.218000	0.32467	1.422000	0.47177	0.655000	0.94253	CCC	C|0.998;A|0.002	0.002	strong		0.517	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117222691	C	A	117222691	3	1	23	1	0	0	0	0	1	0	0	0	3249	623	22	4	390	4	CEP164	11	117222691	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126039	117222691	17783825	2911	19367										
CEP164	22897	hgsc.bcm.edu	37	chr11	117266312	117266312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggcacagaaggagcacaCccacctgttgcagtcaaacc	11	13	1	1	rs2305830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117266312C>G	ENST00000278935.3	+	24	3110	c.2963C>G	c.(2962-2964)aCc>aGc	p.T988S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	988			T -> S (in dbSNP:rs2305830). {ECO:0000269|PubMed:17974005}.		cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAGCACACCCACCTGTTG	0.567													C|||	1392	0.277955	0.267	0.2089	5008	,	,		18904	0.3046		0.3211	False		,,,				2504	0.2699				p.T991S		Atlas-SNP	.											.	CEP164	121	.	0			c.C2972G						PASS	.	C	SER/THR	1176,3226	411.3+/-335.7	155,866,1180	56	57	57		2963	0.9	0	11	dbSNP_100	57	2658,5934	425.8+/-355.1	405,1848,2043	yes	missense	CEP164	NM_014956.4	58	560,2714,3223	GG,GC,CC		30.9358,26.7151,29.5059	benign	988/1461	117266312	3834,9160	2201	4296	6497	SO:0001583	missense	22897	exon23			AGCACACCCACCT	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2963C>G	11.37:g.117266312C>G	ENSP00000278935:p.Thr988Ser	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	260	259	0.996154	NM_001271933	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	635	0.2907509157509158	139	0.28252032520325204	87	0.24033149171270718	168	0.2937062937062937	241	0.3179419525065963	C	10.78	1.445822	0.25987	0.267151	0.309358	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.27104	1.69	5.02	0.953	0.19590	.	0.702415	0.12990	N	0.422568	T	0.00012	0.0000	L	0.50919	1.6	0.80722	P	0.0	B;B;B;B	0.10296	0.002;0.003;0.003;0.003	B;B;B;B	0.10450	0.002;0.005;0.005;0.005	T	0.40664	-0.9551	9	0.29301	T	0.29	-0.0052	3.8141	0.08808	0.1203:0.3898:0.353:0.1368	rs2305830;rs17500832;rs52823446;rs2305830	962;762;988;991	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	S	988;962	ENSP00000278935:T988S	ENSP00000278935:T988S	T	+	2	0	CEP164	116771522	0.000000	0.05858	0.003000	0.11579	0.953000	0.61014	-0.116000	0.10724	-0.075000	0.12798	0.491000	0.48974	ACC	C|0.709;G|0.291	0.291	strong		0.567	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		G	117266312	C	G	117266312	3	3	23	1	0	0	0	0	1	0	0	0	3249	507	18	4	3049	4	CEP164	11	117266312	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43621	117266312	17740204	2912	19368										
DSCAML1	57453	hgsc.bcm.edu	37	chr11	117395707	117395707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggcggggatagggtagccCgaggcggtgcagggcagctc	20	9	0	0	rs142205484	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117395707C>T	ENST00000321322.6	-	5	931	c.930G>A	c.(928-930)tcG>tcA	p.S310S	DSCAML1_ENST00000527706.1_Silent_p.S40S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	250					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S310S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TAGGGTAGCCCGAGGCGGTGC	0.677																																					p.S310S		Atlas-SNP	.											DSCAML1,colon,carcinoma,0,1	DSCAML1	286	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A						scavenged	.	C		0,4400		0,0,2200	21	21	21		930	-9.9	0.2	11	dbSNP_134	21	2,8584		0,2,4291	no	coding-synonymous	DSCAML1	NM_020693.2		0,2,6491	TT,TC,CC		0.0233,0.0,0.0154		310/2114	117395707	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	57453	exon5			GTAGCCCGAGGCG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.930G>A	11.37:g.117395707C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	2	0.0206186	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																			C|0.999;T|0.001	0.001	strong		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117395707	C	T	117395707	2	4	23	1	0	0	0	0	0	0	0	1	4769	639	23	1		1	DSCAML1	11	117395707	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	129395	117395707	17610809	2913	19369										
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789312	117789312	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccagagccggagatgccCgggctggagatgcctgggct					rs200637340|rs201746372|rs58754377		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117789312C>A	ENST00000430170.2	-	2	350	c.263G>T	c.(262-264)cGg>cTg	p.R88L	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.R88L|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.R88L|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.R88L|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.R88L	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	88	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CGGAGATGCCCGGGCTGGAGA	0.642																																					p.R88L		Atlas-SNP	.											TMPRSS13_ENST00000445164,NS,NS,0,3	TMPRSS13	75	3	0			c.G263T						scavenged	.						51	61	58					11																	117789312		2001	4153	6154	SO:0001583	missense	84000	exon2			GATGCCCGGGCTG	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.263G>T	11.37:g.117789312C>A	ENSP00000387702:p.Arg88Leu	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	264	5	0.0189394	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152681	0.57259	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.89050	-2.46;-2.44;-2.43;-2.45;-2.38	4.21	0.0434	0.14221	.	0.867270	0.09660	N	0.772538	T	0.79516	0.4459	.	.	.	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.002	T	0.62282	-0.6887	9	0.31617	T	0.26	.	4.5554	0.12135	0.154:0.5793:0.0:0.2667	.	83;88	Q9BYE2-4;E9PRA0	.;.	L	88;83;88;88;88;88	ENSP00000435813:R88L;ENSP00000434279:R88L;ENSP00000387702:R88L;ENSP00000394114:R88L;ENSP00000436502:R88L	ENSP00000337113:R83L	R	-	2	0	TMPRSS13	117294522	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-1.930000	0.01557	-0.218000	0.10018	0.643000	0.83706	CGG	C|1.000;T|0.000	.	alt		0.642	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		A	117789312	C	A	117789312	3	1	23	1	0	0	0	0	1	0	0	0	16242	652	23	4	1488	4	TMPRSS13	11	117789312	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	393605	117789312	17217204	2914	19370	396	2								
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789317	117789317	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagccggagatgcccgggcTggagatgcctgggctggaga					rs201746372|rs58754377|rs201369736		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117789317T>C	ENST00000430170.2	-	2	345	c.258A>G	c.(256-258)ccA>ccG	p.P86P	TMPRSS13_ENST00000445164.2_Silent_p.P86P|TMPRSS13_ENST00000526090.1_Silent_p.P86P|TMPRSS13_ENST00000528626.1_Silent_p.P86P|TMPRSS13_ENST00000524993.1_Silent_p.P86P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGCCCGGGCTGGAGATGCCT	0.652																																					p.P86P		Atlas-SNP	.											TMPRSS13,caecum,carcinoma,0,1	TMPRSS13	75	1	1	Deletion - In frame(1)	urinary_tract(1)	c.A258G						PASS	.						34	41	38					11																	117789317		1955	4135	6090	SO:0001819	synonymous_variant	84000	exon2			CCGGGCTGGAGAT	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.258A>G	11.37:g.117789317T>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	268	13	0.0485075	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																			.	.	weak		0.652	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		C	117789317	T	C	117789317	2	2	23	1	0	0	0	0	0	0	0	1	16242	1567	55	3		3	TMPRSS13	11	117789317	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5	117789317	17217199	2915	19371	396	2								
TMPRSS13	84000	hgsc.bcm.edu	37	chr11	117789367	117789367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagatgcccggcctggagAtgcccggcctggaggtgtac	17	11	0	2	rs200485169		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:117789367A>G	ENST00000430170.2	-	2	295	c.208T>C	c.(208-210)Tct>Cct	p.S70P	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S70P|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S70P|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.S70P|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S70P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	70	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CGGCCTGGAGATGCCCGGCCT	0.677																																					p.S70P		Atlas-SNP	.											TMPRSS13_ENST00000445164,NS,carcinoma,0,3	TMPRSS13	75	3	0			c.T208C						scavenged	.						46	53	50					11																	117789367		1896	4096	5992	SO:0001583	missense	84000	exon2			CTGGAGATGCCCG	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.208T>C	11.37:g.117789367A>G	ENSP00000387702:p.Ser70Pro	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	221	8	0.0361991	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	A	8.733	0.917098	0.17907	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88975	-2.42;-2.45;-2.45;-2.45;-2.37	1.16	-2.32	0.06745	.	0.000000	0.45606	D	0.000355	T	0.73791	0.3632	N	0.17082	0.46	0.09310	N	1	B	0.22211	0.066	B	0.24394	0.053	T	0.58912	-0.7552	10	0.44086	T	0.13	.	2.7827	0.05365	0.4867:0.0:0.3126:0.2007	.	70	E9PRA0	.	P	70	ENSP00000435813:S70P;ENSP00000434279:S70P;ENSP00000387702:S70P;ENSP00000394114:S70P;ENSP00000436502:S70P	ENSP00000337113:S70P	S	-	1	0	TMPRSS13	117294577	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.557000	0.05985	-1.472000	0.01883	-1.256000	0.01477	TCT	.	.	weak		0.677	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		G	117789367	A	G	117789367	3	3	23	1	0	0	0	0	1	0	0	0	16242	333	12	2	1543	2	TMPRSS13	11	117789367	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	50	117789367	17217149	2916	19372										
AMICA1	120425	hgsc.bcm.edu	37	chr11	118074337	118074337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagctctgggagtactccAcagacatcctgagtttgtgg	11	12	1	2	rs1793174	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118074337A>G	ENST00000356289.5	-	6	751	c.578T>C	c.(577-579)gTg>gCg	p.V193A	AMICA1_ENST00000533261.1_Missense_Mutation_p.V182A|AMICA1_ENST00000292067.7_Missense_Mutation_p.V183A|AMICA1_ENST00000526620.1_Missense_Mutation_p.V154A	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	193	Ig-like V-type 2.		V -> A (in dbSNP:rs1793174). {ECO:0000269|PubMed:12869515, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.		blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.V183A(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAGTACTCCACAGACATCCT	0.498													G|||	4019	0.802516	0.9251	0.7954	5008	,	,		20180	0.6736		0.7356	False		,,,				2504	0.8436				p.V193A		Atlas-SNP	.											AMICA1,NS,carcinoma,0,1	AMICA1	49	1	1	Substitution - Missense(1)	stomach(1)	c.T578C						PASS	.	G	ALA/VAL,ALA/VAL	3972,428	206.5+/-228.1	1795,382,23	101	100	100		578,548	-8.3	0	11	dbSNP_89	100	6517,2075	359.8+/-331.7	2474,1569,253	yes	missense,missense	AMICA1	NM_001098526.1,NM_153206.2	64,64	4269,1951,276	GG,GA,AA		24.1504,9.7273,19.2657	benign,benign	193/395,183/385	118074337	10489,2503	2200	4296	6496	SO:0001583	missense	120425	exon6			TACTCCACAGACA	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.578T>C	11.37:g.118074337A>G	ENSP00000348635:p.Val193Ala	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	243	61	0.251029	NM_001098526	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	1696	0.7765567765567766	451	0.9166666666666666	283	0.7817679558011049	403	0.7045454545454546	559	0.737467018469657	G	0.014	-1.604930	0.00842	0.902727	0.758496	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.16	-8.32	0.00996	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.939970	0.02665	N	0.107954	T	0.00012	0.0000	M	0.65975	2.015	0.80722	P	0.0	B;B;B;B	0.17667	0.0;0.016;0.016;0.023	B;B;B;B	0.19391	0.003;0.015;0.025;0.009	T	0.48570	-0.9024	9	0.05351	T	0.99	1.2069	1.4872	0.02449	0.2602:0.3525:0.1345:0.2528	rs1793174;rs17531584;rs52816574;rs57924556;rs1793174	154;193;182;183	E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;JAML1_HUMAN;.;.	A	193;183;182;154;154	ENSP00000348635:V193A;ENSP00000292067:V183A;ENSP00000436117:V182A;ENSP00000431218:V154A	ENSP00000292067:V183A	V	-	2	0	AMICA1	117579547	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.995000	0.01472	-5.640000	0.00011	-3.383000	0.00040	GTG	A|0.202;G|0.798	0.798	strong		0.498	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		G	118074337	A	G	118074337	3	3	23	1	0	0	0	0	1	0	0	0	574	159	6	2	626	2	AMICA1	11	118074337	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	284970	118074337	16932179	2917	19373										
MPZL3	196264	hgsc.bcm.edu	37	chr11	118110977	118110977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgtccagtctatagtaagTttgtcagtgacatctgaagt	9	6	3	2	rs2853006	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118110977T>C	ENST00000278949.4	-	2	244	c.189A>G	c.(187-189)aaA>aaG	p.K63K	MPZL3_ENST00000527472.1_Silent_p.K51K|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	63	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)		p.K63K(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTATAGTAAGTTTGTCAGTGA	0.428													C|||	3967	0.792133	0.9236	0.7666	5008	,	,		19793	0.6806		0.7117	False		,,,				2504	0.8303				p.K63K		Atlas-SNP	.											MPZL3,NS,carcinoma,0,1	MPZL3	22	1	1	Substitution - coding silent(1)	stomach(1)	c.A189G						scavenged	.	C		3934,466	219.1+/-236.9	1766,402,32	258	201	220		189	-2.5	1	11	dbSNP_100	220	6266,2326	390.0+/-343.1	2296,1674,326	no	coding-synonymous	MPZL3	NM_198275.1		4062,2076,358	CC,CT,TT		27.0717,10.5909,21.4901		63/236	118110977	10200,2792	2200	4296	6496	SO:0001819	synonymous_variant	196264	exon2			AGTAAGTTTGTCA	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.189A>G	11.37:g.118110977T>C		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	375	101	0.269333	NM_198275	A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																			T|0.217;C|0.783	0.783	strong		0.428	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		C	118110977	T	C	118110977	2	2	23	1	0	0	0	0	0	0	0	1	9751	1722	60	2		2	MPZL3	11	118110977	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	36640	118110977	16895539	2918	19374										
UBE4A	9354	hgsc.bcm.edu	37	chr11	118253436	118253436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgttctgcaactttcagtaTgcaccccaacttgcagaggc	9	12	2	1	rs567105943		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118253436T>C	ENST00000431736.2	+	13	2235	c.2163T>C	c.(2161-2163)taT>taC	p.Y721Y	UBE4A_ENST00000545354.1_Silent_p.Y186Y|UBE4A_ENST00000252108.3_Silent_p.Y714Y					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTTTCAGTATGCACCCCAAC	0.498																																					p.Y721Y		Atlas-SNP	.											.	UBE4A	97	.	0			c.T2163C						PASS	.						180	167	172					11																	118253436		2200	4296	6496	SO:0001819	synonymous_variant	9354	exon13			TCAGTATGCACCC	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2163T>C	11.37:g.118253436T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	110	76	0.690909	NM_004788		Silent	SNP	ENST00000431736.2	37	CCDS8396.1																																																																																			.	.	none		0.498	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		C	118253436	T	C	118253436	2	2	23	1	0	0	0	0	0	0	0	1	16879	1471	51	2		2	UBE4A	11	118253436	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	142459	118253436	16753080	2919	19375										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118769604	118769604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcgctcttggggaagtaCtggagggtgctgcttggctt	15	8	2	0	rs61751532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118769604C>T	ENST00000334801.3	-	8	4984	c.4020G>A	c.(4018-4020)caG>caA	p.Q1340Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1340	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGGAAGTACTGGAGGGTGC	0.617													c|||	123	0.0245607	0.0015	0.0375	5008	,	,		17998	0.001		0.0875	False		,,,				2504	0.0061				p.Q1340Q		Atlas-SNP	.											.	BCL9L	254	.	0			c.G4020A						PASS	.			82,4318	69.8+/-107.6	0,82,2118	68	70	69		4020	0.8	1	11	dbSNP_129	69	722,7868	173.3+/-223.8	40,642,3613	no	coding-synonymous	BCL9L	NM_182557.2		40,724,5731	TT,TC,CC		8.4051,1.8636,6.1894		1340/1500	118769604	804,12186	2200	4295	6495	SO:0001819	synonymous_variant	283149	exon8			GAAGTACTGGAGG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4020G>A	11.37:g.118769604C>T		Somatic	200	1	0.005		WXS	Illumina HiSeq	Phase_I	327	221	0.675841	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																			C|0.941;T|0.059	0.059	strong		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118769604	C	T	118769604	2	4	23	1	0	0	0	0	0	0	0	1	1382	564	20	2		2	BCL9L	11	118769604	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	516168	118769604	16236912	2920	19376										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118772413	118772413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttctccagcagctggtgcCgcagcagctcctcacggacc	11	17	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118772413C>T	ENST00000334801.3	-	6	3003	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	680					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGCTGGTGCCGCAGCAGCTC	0.652																																					p.R680Q		Atlas-SNP	.											BCL9L_ENST00000392849,colon,carcinoma,-1,3	BCL9L	254	3	0			c.G2039A						scavenged	.						36	36	36					11																	118772413		2199	4295	6494	SO:0001583	missense	283149	exon6			TGGTGCCGCAGCA	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2039G>A	11.37:g.118772413C>T	ENSP00000335320:p.Arg680Gln	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	197	2	0.0101523	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555908	0.65425	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.63744	-0.06	4.67	4.67	0.58626	.	0.000000	0.40640	N	0.001044	T	0.66809	0.2827	L	0.31664	0.95	0.50171	D	0.999857	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.886	T	0.61113	-0.7128	10	0.17369	T	0.5	-21.2041	17.3498	0.87320	0.0:1.0:0.0:0.0	.	675;680	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	Q	680;643;680;680	ENSP00000335320:R680Q	ENSP00000335320:R680Q	R	-	2	0	BCL9L	118277623	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.470000	0.60175	2.419000	0.82065	0.313000	0.20887	CGG	.	.	none		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118772413	C	T	118772413	3	4	23	1	0	0	0	0	1	0	0	0	1382	652	23	1	2472	1	BCL9L	11	118772413	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2809	118772413	16234103	2921	19377										
FOXR1	283150	hgsc.bcm.edu	37	chr11	118851327	118851327	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggggccagcacacggcctCgatcttgcctctggaagttg	14	13	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118851327C>T	ENST00000317011.3	+	5	964	c.739C>T	c.(739-741)Cga>Tga	p.R247*		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	247					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CACACGGCCTCGATCTTGCCT	0.587																																					p.R247X		Atlas-SNP	.											FOXR1,NS,carcinoma,-1,1	FOXR1	30	1	0			c.C739T						scavenged	.						66	67	67					11																	118851327		2200	4295	6495	SO:0001587	stop_gained	283150	exon5			CGGCCTCGATCTT	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.739C>T	11.37:g.118851327C>T	ENSP00000314806:p.Arg247*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	130	4	0.0307692	NM_181721	B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Nonsense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489968	0.84962	.	.	ENSG00000176302	ENST00000317011	.	.	.	5.41	3.52	0.40303	.	0.498913	0.21871	N	0.067892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	6.9881	0.24739	0.1711:0.7403:0.0:0.0886	.	.	.	.	X	247	.	ENSP00000314806:R247X	R	+	1	2	FOXR1	118356537	0.992000	0.36948	0.715000	0.30552	0.368000	0.29767	2.414000	0.44627	0.633000	0.30452	-0.188000	0.12872	CGA	.	.	none		0.587	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		T	118851327	C	T	118851327	4	4	23	1	0	0	0	0	0	1	0	0	6031	876	31	1	757	1	FOXR1	11	118851327	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	78914	118851327	16155189	2922	19378										
HYOU1	10525	hgsc.bcm.edu	37	chr11	118925341	118925341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagctcggcgctcggcctgGttgaagaagactggcacggt	15	11	0	3	rs538478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:118925341G>A	ENST00000404233.3	-	7	667	c.543C>T	c.(541-543)aaC>aaT	p.N181N	HYOU1_ENST00000525859.1_Silent_p.N181N|HYOU1_ENST00000543287.1_Silent_p.N94N|HYOU1_ENST00000529972.1_Silent_p.N181N	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTCGGCCTGGTTGAAGAAGA	0.577													G|||	2165	0.432308	0.1868	0.2954	5008	,	,		18893	0.7192		0.4821	False		,,,				2504	0.5143				p.N181N		Atlas-SNP	.											HYOU1,NS,carcinoma,-1,1	HYOU1	88	1	0			c.C543T						PASS	.	G	,	1028,3372	377.1+/-322.3	137,754,1309	69	63	65		543,543	2.3	1	11	dbSNP_83	65	3815,4775	538.2+/-383.4	857,2101,1337	no	coding-synonymous,coding-synonymous	HYOU1	NM_001130991.1,NM_006389.3	,	994,2855,2646	AA,AG,GG		44.4121,23.3636,37.2825	,	181/1000,181/1000	118925341	4843,8147	2200	4295	6495	SO:0001819	synonymous_variant	10525	exon7			GGCCTGGTTGAAG	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.543C>T	11.37:g.118925341G>A		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	149	148	0.993289	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	CCDS8408.1																																																																																			G|0.585;A|0.415	0.415	strong		0.577	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		A	118925341	G	A	118925341	2	1	23	1	0	0	0	0	0	0	0	1	7470	1252	44	2		2	HYOU1	11	118925341	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	74014	118925341	16081175	2923	19379										
NLRX1	79671	hgsc.bcm.edu	37	chr11	119050906	119050906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgggcagcggaaggcatGccctggatgaggtgaacttg	17	8	0	2	rs45450295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:119050906G>A	ENST00000409109.1	+	7	2763	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	NLRX1_ENST00000292199.2_Missense_Mutation_p.A726T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A726T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A726T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A726T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	726	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGAAGGCATGCCCTGGATGA	0.637													G|||	45	0.00898562	0.0295	0.0043	5008	,	,		18736	0.0		0.002	False		,,,				2504	0.001				p.A726T		Atlas-SNP	.											.	NLRX1	128	.	0			c.G2176A						PASS	.	G	THR/ALA,THR/ALA	162,4238	104.3+/-142.8	2,158,2040	51	47	49		2176,2176	-0.9	0.9	11	dbSNP_127	49	41,8549	26.3+/-74.7	0,41,4254	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	58,58	2,199,6294	AA,AG,GG		0.4773,3.6818,1.5627	benign,benign	726/976,726/922	119050906	203,12787	2200	4295	6495	SO:0001583	missense	79671	exon7			AGGCATGCCCTGG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2176G>A	11.37:g.119050906G>A	ENSP00000387334:p.Ala726Thr	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	428	99	0.231308	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	13	0.005952380952380952	11	0.022357723577235773	0	0.0	0	0.0	2	0.002638522427440633	G	5.185	0.219615	0.09863	0.036818	0.004773	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.17	-0.941	0.10402	.	0.788838	0.11541	N	0.553714	T	0.04588	0.0125	N	0.08118	0	0.18873	N	0.999983	B;B	0.15473	0.013;0.0	B;B	0.12156	0.007;0.002	T	0.16867	-1.0388	10	0.13108	T	0.6	.	3.8077	0.08783	0.1544:0.3464:0.3861:0.1131	rs45450295	726;726	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	726	ENSP00000386851:A726T;ENSP00000292199:A726T;ENSP00000386858:A726T;ENSP00000387334:A726T;ENSP00000433442:A726T	ENSP00000292199:A726T	A	+	1	0	NLRX1	118556116	0.000000	0.05858	0.911000	0.35937	0.797000	0.45037	-0.202000	0.09451	0.162000	0.19483	0.313000	0.20887	GCC	G|0.988;A|0.012	0.012	strong		0.637	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119050906	G	A	119050906	3	1	23	1	0	0	0	0	1	0	0	0	10485	1319	46	2	2198	2	NLRX1	11	119050906	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	125565	119050906	15955610	2924	19380										
NLRX1	79671	hgsc.bcm.edu	37	chr11	119052826	119052826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccaacaacccgctgacggCggcaggtgttgccgtgctaa	13	13	0	1	rs4245191	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:119052826C>A	ENST00000409109.1	+	9	2965	c.2378C>A	c.(2377-2379)gCg>gAg	p.A793E	NLRX1_ENST00000292199.2_Missense_Mutation_p.A793E|NLRX1_ENST00000525863.1_Missense_Mutation_p.A793E|NLRX1_ENST00000409991.1_Missense_Mutation_p.A793E|NLRX1_ENST00000409265.4_Missense_Mutation_p.A793E	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	793	Required for the repression of MAVS- induced interferon signaling.		A -> E (in dbSNP:rs4245191). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGACGGCGGCAGGTGTT	0.632													C|||	3447	0.688299	0.708	0.4179	5008	,	,		18563	0.8839		0.5477	False		,,,				2504	0.7965				p.A793E		Atlas-SNP	.											.	NLRX1	128	.	0			c.C2378A						PASS	.	C	GLU/ALA,GLU/ALA	2971,1429	652.9+/-399.5	1024,923,253	124	118	120		2378,2378	2.9	0	11	dbSNP_111	120	4477,4113	565.2+/-388.4	1172,2133,990	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	107,107	2196,3056,1243	AA,AC,CC		47.8813,32.4773,42.6636	benign,benign	793/976,793/922	119052826	7448,5542	2200	4295	6495	SO:0001583	missense	79671	exon9			TGACGGCGGCAGG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2378C>A	11.37:g.119052826C>A	ENSP00000387334:p.Ala793Glu	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	182	119	0.653846	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	1419	0.6497252747252747	349	0.709349593495935	166	0.4585635359116022	496	0.8671328671328671	408	0.5382585751978892	C	0.006	-2.091840	0.00364	0.675227	0.521187	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.78	2.91	0.33838	.	0.152719	0.40640	N	0.001049	T	0.00012	0.0000	N	0.03115	-0.41	0.54753	P	1.799999999996249E-5	B;B	0.15719	0.014;0.007	B;B	0.17979	0.02;0.006	T	0.40590	-0.9555	9	0.02654	T	1	.	6.5557	0.22460	0.1759:0.6611:0.0:0.163	rs4245191;rs17627663;rs17845376;rs17858230;rs61333211;rs4245191	793;793	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	E	793	ENSP00000386851:A793E;ENSP00000292199:A793E;ENSP00000386858:A793E;ENSP00000387334:A793E;ENSP00000433442:A793E	ENSP00000292199:A793E	A	+	2	0	NLRX1	118558036	0.979000	0.34478	0.018000	0.16275	0.003000	0.03518	2.559000	0.45888	0.628000	0.30357	0.609000	0.83330	GCG	C|0.378;A|0.622	0.622	strong		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119052826	C	A	119052826	3	1	23	1	0	0	0	0	1	0	0	0	10485	768	27	4	2408	4	NLRX1	11	119052826	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1920	119052826	15953690	2925	19381										
USP2	9099	hgsc.bcm.edu	37	chr11	119229964	119229964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagccaacaaagcgcggtgcGtatctctggatctgggtctt	12	10	3	0	rs2241646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:119229964G>A	ENST00000260187.2	-	5	1332	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	USP2_ENST00000525735.1_Silent_p.Y137Y|USP2_ENST00000455332.2_Silent_p.Y103Y	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	346	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCGCGGTGCGTATCTCTGGA	0.498													G|||	3544	0.707668	0.5598	0.6383	5008	,	,		20364	0.8611		0.7247	False		,,,				2504	0.7812				p.Y346Y		Atlas-SNP	.											.	USP2	71	.	0			c.C1038T						PASS	.	G	,	2511,1887	629.0+/-395.2	718,1075,406	90	79	83		1038,411	-8.9	0.4	11	dbSNP_98	83	6069,2521	692.4+/-404.6	2159,1751,385	no	coding-synonymous,coding-synonymous	USP2	NM_004205.4,NM_171997.2	,	2877,2826,791	AA,AG,GG		29.3481,42.9059,33.939	,	346/606,137/397	119229964	8580,4408	2199	4295	6494	SO:0001819	synonymous_variant	9099	exon5			CGGTGCGTATCTC	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1038C>T	11.37:g.119229964G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	283	203	0.717314	NM_004205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																			G|0.310;A|0.690	0.690	strong		0.498	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		A	119229964	G	A	119229964	2	1	23	1	0	0	0	0	0	0	0	1	17048	1140	40	1		1	USP2	11	119229964	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	177138	119229964	15776552	2926	19382										
OAF	220323	hgsc.bcm.edu	37	chr11	120099791	120099791	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccagaagagctacagcttCgacttctacgtgccccagag	10	13	1	3	rs2465654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:120099791C>T	ENST00000328965.4	+	4	1275	c.762C>T	c.(760-762)ttC>ttT	p.F254F	OAF_ENST00000531220.1_Silent_p.F138F	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	254						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCTACAGCTTCGACTTCTACG	0.647													C|||	810	0.161741	0.2231	0.1585	5008	,	,		14973	0.129		0.0815	False		,,,				2504	0.1973				p.F254F		Atlas-SNP	.											.	OAF	12	.	0			c.C762T						PASS	.	C		899,3507	331.2+/-301.9	91,717,1395	55	53	54		762	-0.5	0.8	11	dbSNP_100	54	624,7976	157.2+/-210.9	21,582,3697	no	coding-synonymous	OAF	NM_178507.2		112,1299,5092	TT,TC,CC		7.2558,20.404,11.71		254/274	120099791	1523,11483	2203	4300	6503	SO:0001819	synonymous_variant	220323	exon4			CAGCTTCGACTTC	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.762C>T	11.37:g.120099791C>T		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	270	198	0.733333	NM_178507		Silent	SNP	ENST00000328965.4	37	CCDS8430.1																																																																																			C|0.869;T|0.131	0.131	strong		0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		T	120099791	C	T	120099791	2	4	23	1	0	0	0	0	0	0	0	1	10798	883	31	1		1	OAF	11	120099791	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	869827	120099791	14906725	2927	19383										
ARHGEF12	23365	hgsc.bcm.edu	37	chr11	120328858	120328858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaatgacttagagacagaTccacccaactggcagcagct	9	11	0	3	rs766894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:120328858T>C	ENST00000397843.2	+	25	2461	c.2295T>C	c.(2293-2295)gaT>gaC	p.D765D	ARHGEF12_ENST00000532993.1_Silent_p.D662D|ARHGEF12_ENST00000356641.3_Silent_p.D746D	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	765					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TAGAGACAGATCCACCCAACT	0.373			T	MLL	AML								T|||	625	0.1248	0.1823	0.1412	5008	,	,		18458	0.001		0.2237	False		,,,				2504	0.0613				p.D765D		Atlas-SNP	.		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	ARHGEF12,NS,carcinoma,+2,1	ARHGEF12	133	1	0			c.T2295C						scavenged	.	T	,	726,3020		76,574,1223	120	120	120		2238,2295	-2.3	1	11	dbSNP_86	120	1889,6341		221,1447,2447	no	coding-synonymous,coding-synonymous	ARHGEF12	NM_001198665.1,NM_015313.2	,	297,2021,3670	CC,CT,TT		22.9526,19.3807,21.8353	,	746/1526,765/1545	120328858	2615,9361	1873	4115	5988	SO:0001819	synonymous_variant	23365	exon25			GACAGATCCACCC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2295T>C	11.37:g.120328858T>C		Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	303	86	0.283828	NM_015313	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																			T|0.833;C|0.167	0.167	strong		0.373	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		C	120328858	T	C	120328858	2	2	23	1	0	0	0	0	0	0	0	1	897	1432	50	2		2	ARHGEF12	11	120328858	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	229067	120328858	14677658	2928	19384										
UBASH3B	84959	hgsc.bcm.edu	37	chr11	122646967	122646967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggaggaagaagtgttcagGcagcatgtgactggttggta	17	5	1	2	rs12790613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:122646967G>A	ENST00000284273.5	+	2	577	c.202G>A	c.(202-204)Gca>Aca	p.A68T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	68	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.		A -> T (in dbSNP:rs12790613). {ECO:0000269|Ref.3}.		negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.A68T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AAGTGTTCAGGCAGCATGTGA	0.403													G|||	980	0.195687	0.0325	0.3069	5008	,	,		21037	0.1726		0.3111	False		,,,				2504	0.2423				p.A68T		Atlas-SNP	.											UBASH3B,NS,carcinoma,0,1	UBASH3B	73	1	1	Substitution - Missense(1)	stomach(1)	c.G202A						PASS	.	G	THR/ALA	376,4028	191.9+/-217.4	17,342,1843	100	99	100		202	4.2	1	11	dbSNP_121	100	2756,5842	439.0+/-359.1	445,1866,1988	yes	missense	UBASH3B	NM_032873.4	58	462,2208,3831	AA,AG,GG		32.054,8.5377,24.0886	possibly-damaging	68/650	122646967	3132,9870	2202	4299	6501	SO:0001583	missense	84959	exon2			GTTCAGGCAGCAT	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.202G>A	11.37:g.122646967G>A	ENSP00000284273:p.Ala68Thr	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	94	73	0.776596	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	465	0.2129120879120879	20	0.04065040650406504	114	0.3149171270718232	109	0.19055944055944055	222	0.2928759894459103	G	17.81	3.480055	0.63849	0.085377	0.32054	ENSG00000154127	ENST00000284273	T	0.22743	1.94	5.14	4.23	0.50019	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.100500	0.64402	D	0.000002	T	0.00012	0.0000	L	0.59967	1.855	0.09310	P	0.9999973605	P	0.46277	0.875	P	0.51297	0.665	T	0.45071	-0.9286	9	0.20046	T	0.44	-8.9395	13.6404	0.62246	0.0746:0.0:0.9254:0.0	rs12790613;rs52802139;rs59822329;rs12790613	68	Q8TF42	UBS3B_HUMAN	T	68	ENSP00000284273:A68T	ENSP00000284273:A68T	A	+	1	0	UBASH3B	122152177	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.092000	0.71414	1.176000	0.42840	-0.140000	0.14226	GCA	G|0.779;A|0.221	0.221	strong		0.403	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		A	122646967	G	A	122646967	3	1	23	1	0	0	0	0	1	0	0	0	16837	1203	42	2	208	2	UBASH3B	11	122646967	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2318109	122646967	12359549	2929	19385										
GRAMD1B	57476	hgsc.bcm.edu	37	chr11	123480981	123480981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccacgacgtgccctaccaTgactacttctacacaatcaa	4	16	2	1	rs10893053	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:123480981T>C	ENST00000529750.1	+	13	1752	c.1425T>C	c.(1423-1425)caT>caC	p.H475H	GRAMD1B_ENST00000322282.7_Silent_p.H475H|GRAMD1B_ENST00000456860.2_Silent_p.H482H|GRAMD1B_ENST00000450171.2_Silent_p.H166H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	475						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGCCCTACCATGACTACTTCT	0.562													T|||	1211	0.241813	0.0719	0.2392	5008	,	,		18260	0.1746		0.3141	False		,,,				2504	0.4683				p.H475H		Atlas-SNP	.											.	GRAMD1B	122	.	0			c.T1425C						PASS	.	T		415,3697		19,377,1660	123	120	121		1425	-0.9	1	11	dbSNP_120	121	2739,5661		460,1819,1921	yes	coding-synonymous	GRAMD1B	NM_020716.1		479,2196,3581	CC,CT,TT		32.6071,10.0924,25.2078		475/739	123480981	3154,9358	2056	4200	6256	SO:0001819	synonymous_variant	57476	exon13			CTACCATGACTAC	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1425T>C	11.37:g.123480981T>C		Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	169	168	0.994083	NM_020716	Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	CCDS53720.1																																																																																			T|0.767;C|0.233	0.233	strong		0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		C	123480981	T	C	123480981	2	2	23	1	0	0	0	0	0	0	0	1	6748	1461	51	2		2	GRAMD1B	11	123480981	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	834014	123480981	11525535	2930	19386										
OR6M1	390261	hgsc.bcm.edu	37	chr11	123676388	123676388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctgggtggaggggatacGcaggatggtagaaattatgt	17	5	0	1	rs76301014	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:123676388G>A	ENST00000309154.2	-	1	707	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGGGGATACGCAGGATGGTA	0.493													G|||	617	0.123203	0.0605	0.121	5008	,	,		20252	0.0516		0.1968	False		,,,				2504	0.2076				p.R224C		Atlas-SNP	.											.	OR6M1	60	.	0			c.C670T						PASS	.	G	CYS/ARG	350,4054	181.9+/-209.8	11,328,1863	75	65	68		670	-0.9	0	11	dbSNP_131	68	1592,7006	295.0+/-302.2	138,1316,2845	yes	missense	OR6M1	NM_001005325.1	180	149,1644,4708	AA,AG,GG		18.5159,7.9473,14.9362	benign	224/314	123676388	1942,11060	2202	4299	6501	SO:0001583	missense	390261	exon1			GGATACGCAGGAT	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.670C>T	11.37:g.123676388G>A	ENSP00000311038:p.Arg224Cys	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	95	66	0.694737	NM_001005325	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	CCDS31696.1	283	0.1295787545787546	33	0.06707317073170732	53	0.1464088397790055	40	0.06993006993006994	157	0.20712401055408972	G	1.766	-0.485686	0.04352	0.079473	0.185159	ENSG00000196099	ENST00000309154	T	0.00267	8.38	3.48	-0.874	0.10631	GPCR, rhodopsin-like superfamily (1);	1.150030	0.06870	U	0.800580	T	0.00012	0.0000	M	0.85777	2.775	0.80722	P	0.0	B	0.16802	0.019	B	0.20955	0.032	T	0.29882	-0.9997	9	0.87932	D	0	.	3.6471	0.08189	0.2078:0.0:0.301:0.4912	.	224	Q8NGM8	OR6M1_HUMAN	C	224	ENSP00000311038:R224C	ENSP00000311038:R224C	R	-	1	0	OR6M1	123181598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.461000	0.06712	-0.456000	0.07043	-0.768000	0.03414	CGT	G|0.859;A|0.141	0.141	strong		0.493	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		A	123676388	G	A	123676388	3	1	23	1	0	0	0	0	1	0	0	0	11205	1087	38	1	274	1	OR6M1	11	123676388	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	195407	123676388	11330128	2931	19387										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123847473	123847473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctttgcagagcatgcttcAcctccttgttccgcaaagtg	9	13	1	1	rs55944888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:123847473A>G	ENST00000531945.1	-	1	1015	c.926T>C	c.(925-927)gTg>gCg	p.V309A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCATGCTTCACCTCCTTGTT	0.527													A|||	577	0.115216	0.0552	0.1585	5008	,	,		21721	0.1081		0.1829	False		,,,				2504	0.1033				p.V309A		Atlas-SNP	.											.	OR10S1	78	.	0			c.T926C						PASS	.	A	ALA/VAL	332,4072	174.8+/-204.3	17,298,1887	81	78	79		926	4.8	0.9	11	dbSNP_129	79	1454,7144	277.4+/-292.8	120,1214,2965	yes	missense	OR10S1	NM_001004474.1	64	137,1512,4852	GG,GA,AA		16.9109,7.5386,13.7363	possibly-damaging	309/332	123847473	1786,11216	2202	4299	6501	SO:0001583	missense	219873	exon1			TGCTTCACCTCCT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.926T>C	11.37:g.123847473A>G	ENSP00000431914:p.Val309Ala	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	173	115	0.66474	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	274	0.12545787545787546	16	0.032520325203252036	65	0.17955801104972377	68	0.11888111888111888	125	0.16490765171503957	A	9.610	1.131046	0.21041	0.075386	0.169109	ENSG00000196248	ENST00000531945	T	0.39592	1.07	4.82	4.82	0.62117	.	0.000000	0.31989	U	0.006759	T	0.00109	0.0003	M	0.67569	2.06	0.80722	P	0.0	B	0.20368	0.044	B	0.15870	0.014	T	0.07366	-1.0776	9	0.87932	D	0	-20.1912	14.1878	0.65617	1.0:0.0:0.0:0.0	rs55944888	309	Q8NGN2	O10S1_HUMAN	A	309	ENSP00000431914:V309A	ENSP00000431914:V309A	V	-	2	0	OR10S1	123352683	0.440000	0.25618	0.900000	0.35374	0.282000	0.26991	5.304000	0.65744	2.004000	0.58718	0.460000	0.39030	GTG	A|0.862;G|0.138	0.138	strong		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		G	123847473	A	G	123847473	3	3	23	1	0	0	0	0	1	0	0	0	10918	159	6	2	73	2	OR10S1	11	123847473	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	171085	123847473	11159043	2932	19388										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123848121	123848121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagcaggcctgccatgaccTtgggcactgtcactgtagac	11	13	2	2	rs17686210	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:123848121T>C	ENST00000531945.1	-	1	367	c.278A>G	c.(277-279)aAg>aGg	p.K93R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	93			K -> R (in dbSNP:rs17686210).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCCATGACCTTGGGCACTGT	0.552													T|||	902	0.180112	0.1558	0.2161	5008	,	,		23775	0.1171		0.2903	False		,,,				2504	0.1391				p.K93R		Atlas-SNP	.											.	OR10S1	78	.	0			c.A278G						PASS	.	T	ARG/LYS	739,3665	302.4+/-287.4	65,609,1528	84	67	73		278	3.7	1	11	dbSNP_123	73	2217,6381	373.0+/-336.8	297,1623,2379	yes	missense	OR10S1	NM_001004474.1	26	362,2232,3907	CC,CT,TT		25.7851,16.7802,22.735	benign	93/332	123848121	2956,10046	2202	4299	6501	SO:0001583	missense	219873	exon1			ATGACCTTGGGCA	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.278A>G	11.37:g.123848121T>C	ENSP00000431914:p.Lys93Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	174	99	0.568965	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	449	0.20558608058608058	81	0.16463414634146342	87	0.24033149171270718	73	0.12762237762237763	208	0.27440633245382584	T	11.00	1.511627	0.27036	0.167802	0.257851	ENSG00000196248	ENST00000531945	T	0.06768	3.26	4.84	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.195670	0.24750	U	0.035919	T	0.00012	0.0000	L	0.28458	0.855	0.44373	P	0.00273000000000001	D	0.60575	0.988	P	0.51657	0.676	T	0.50734	-0.8793	9	0.48119	T	0.1	-9.7909	11.6588	0.51334	0.0:0.0:0.1488:0.8512	rs17686210;rs52830816;rs17686210	93	Q8NGN2	O10S1_HUMAN	R	93	ENSP00000431914:K93R	ENSP00000431914:K93R	K	-	2	0	OR10S1	123353331	0.335000	0.24748	1.000000	0.80357	0.953000	0.61014	0.933000	0.28897	0.877000	0.35895	-0.340000	0.08031	AAG	T|0.785;C|0.215	0.215	strong		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		C	123848121	T	C	123848121	3	2	23	1	0	0	0	0	1	0	0	0	10918	1609	56	3	721	3	OR10S1	11	123848121	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	648	123848121	11158395	2933	19389										
OR10S1	219873	hgsc.bcm.edu	37	chr11	123848212	123848212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgaggtgagagtcagagcCcacagttaggaggatgagga	17	6	1	4	rs17759513	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:123848212C>T	ENST00000531945.1	-	1	276	c.187G>A	c.(187-189)Ggc>Agc	p.G63S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	63			G -> S (in dbSNP:rs17759513).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGTCAGAGCCCACAGTTAGG	0.527													C|||	867	0.173123	0.1301	0.2147	5008	,	,		22925	0.1171		0.2903	False		,,,				2504	0.1391				p.G63S		Atlas-SNP	.											.	OR10S1	78	.	0			c.G187A						PASS	.	C	SER/GLY	660,3744	281.1+/-275.7	45,570,1587	71	63	66		187	1.9	1	11	dbSNP_123	66	2219,6379	374.8+/-337.5	296,1627,2376	yes	missense	OR10S1	NM_001004474.1	56	341,2197,3963	TT,TC,CC		25.8083,14.9864,22.1427	benign	63/332	123848212	2879,10123	2202	4299	6501	SO:0001583	missense	219873	exon1			CAGAGCCCACAGT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.187G>A	11.37:g.123848212C>T	ENSP00000431914:p.Gly63Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	138	77	0.557971	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	433	0.19826007326007325	65	0.13211382113821138	87	0.24033149171270718	73	0.12762237762237763	208	0.27440633245382584	C	9.701	1.154552	0.21371	0.149864	0.258083	ENSG00000196248	ENST00000531945	T	0.01076	5.37	4.84	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	1.379400	0.05329	U	0.527956	T	0.00012	0.0000	N	0.03930	-0.32	0.52099	P	5.900000000003125E-5	B	0.14438	0.01	B	0.08055	0.003	T	0.41680	-0.9495	9	0.22109	T	0.4	-6.4442	4.5215	0.11960	0.1454:0.5349:0.0:0.3197	rs17759513;rs52797693;rs60266391;rs17759513	63	Q8NGN2	O10S1_HUMAN	S	63	ENSP00000431914:G63S	ENSP00000431914:G63S	G	-	1	0	OR10S1	123353422	0.000000	0.05858	0.998000	0.56505	0.996000	0.88848	-0.391000	0.07323	0.668000	0.31126	0.638000	0.83543	GGC	C|0.792;N|0.000	.	strong		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123848212	C	T	123848212	3	4	23	1	0	0	0	0	1	0	0	0	10918	623	22	2	812	2	OR10S1	11	123848212	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	91	123848212	11158304	2934	19390										
VWA5A	4013	hgsc.bcm.edu	37	chr11	124006993	124006993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatgcccagctgaccgggaGgatgccagtgagttcccatt	12	12	0	2	rs2276053	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:124006993G>A	ENST00000456829.2	+	13	1768	c.1517G>A	c.(1516-1518)aGg>aAg	p.R506K	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.R506K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	506			R -> K (in dbSNP:rs2276053). {ECO:0000269|PubMed:9417908}.							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						CTGACCGGGAGGATGCCAGTG	0.478													G|||	598	0.119409	0.1861	0.0764	5008	,	,		20037	0.0575		0.1014	False		,,,				2504	0.1421				p.R506K		Atlas-SNP	.											.	VWA5A	102	.	0			c.G1517A						PASS	.	G	LYS/ARG,LYS/ARG	747,3655	306.6+/-289.6	58,631,1512	79	76	77		1517,1517	-10.7	0	11	dbSNP_100	77	921,7677	204.1+/-246.9	47,827,3425	yes	missense,missense	VWA5A	NM_001130142.1,NM_014622.4	26,26	105,1458,4937	AA,AG,GG		10.7118,16.9696,12.8308	benign,benign	506/787,506/787	124006993	1668,11332	2201	4299	6500	SO:0001583	missense	4013	exon12			CCGGGAGGATGCC	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.1517G>A	11.37:g.124006993G>A	ENSP00000407726:p.Arg506Lys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	195	47	0.241026	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	233	0.10668498168498168	91	0.18495934959349594	35	0.09668508287292818	27	0.0472027972027972	80	0.10554089709762533	G	0.186	-1.057595	0.01965	0.169696	0.107118	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.03607	3.87;3.87	5.35	-10.7	0.00240	.	3.151380	0.01991	N	0.045531	T	0.00012	0.0000	N	0.00152	-1.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	9	0.05833	T	0.94	6.056	2.6497	0.04995	0.4098:0.1332:0.0708:0.3862	rs2276053;rs61387352;rs2276053	506	O00534	VMA5A_HUMAN	K	506	ENSP00000407726:R506K;ENSP00000376504:R506K	ENSP00000376504:R506K	R	+	2	0	VWA5A	123512203	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.735000	0.00802	-3.343000	0.00183	-1.099000	0.02127	AGG	G|0.883;A|0.117	0.117	strong		0.478	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		A	124006993	G	A	124006993	3	1	23	1	0	0	0	0	1	0	0	0	17239	1000	35	2	1563	2	VWA5A	11	124006993	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	158781	124006993	10999523	2935	19391										
OR8D2	283160	hgsc.bcm.edu	37	chr11	124189306	124189306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttccatagtagtgctggaaGggggcttgaaatacatgaat	12	5	0	2	rs2466620	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:124189306G>A	ENST00000357438.2	-	1	878	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	263			P -> L (in dbSNP:rs2466620).			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)		AGTGCTGGAAGGGGGCTTGAA	0.448													G|||	1390	0.277556	0.4531	0.2003	5008	,	,		18104	0.1895		0.1292	False		,,,				2504	0.3384				p.P263L		Atlas-SNP	.											.	OR8D2	65	.	0			c.C788T						PASS	.	G	LEU/PRO	1863,2539	538.7+/-375.1	384,1095,722	135	142	140		788	1.4	0	11	dbSNP_100	140	1278,7320	250.7+/-277.5	112,1054,3133	yes	missense	OR8D2	NM_001002918.1	98	496,2149,3855	AA,AG,GG		14.8639,42.3217,24.1615	benign	263/312	124189306	3141,9859	2201	4299	6500	SO:0001583	missense	283160	exon1			CTGGAAGGGGGCT	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.788C>T	11.37:g.124189306G>A	ENSP00000350022:p.Pro263Leu	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	227	67	0.295154	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	520	0.23809523809523808	224	0.45528455284552843	71	0.19613259668508287	124	0.21678321678321677	101	0.13324538258575197	g	14.01	2.407143	0.42715	0.423217	0.148639	ENSG00000197263	ENST00000357438	T	0.00164	8.64	3.34	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.294224	0.24506	N	0.037940	T	0.00012	0.0000	N	0.26162	0.8	0.80722	P	0.0	P	0.40000	0.698	B	0.43413	0.419	T	0.00001	-1.2671	9	0.66056	D	0.02	.	8.25	0.31712	0.0937:0.4291:0.4772:0.0	rs2466620;rs52820798;rs59068946;rs2466620	263	Q9GZM6	OR8D2_HUMAN	L	263	ENSP00000350022:P263L	ENSP00000350022:P263L	P	-	2	0	OR8D2	123694516	0.008000	0.16893	0.003000	0.11579	0.975000	0.68041	1.552000	0.36244	0.435000	0.26365	0.530000	0.56133	CCT	G|0.761;A|0.239	0.239	strong		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		A	124189306	G	A	124189306	3	1	23	1	0	0	0	0	1	0	0	0	11232	1000	35	2	150	2	OR8D2	11	124189306	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	182313	124189306	10817210	2936	19392										
OR8D2	283160	hgsc.bcm.edu	37	chr11	124189729	124189729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgacagatagcaacataaCggtcatattccatggctgtc	10	10	1	1	rs2512219	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:124189729C>T	ENST00000357438.2	-	1	455	c.365G>A	c.(364-366)cGt>cAt	p.R122H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	122			R -> H (in dbSNP:rs2512219).			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)		AGCAACATAACGGTCATATTC	0.413													C|||	1390	0.277556	0.4531	0.2003	5008	,	,		21904	0.1895		0.1292	False		,,,				2504	0.3384				p.R122H		Atlas-SNP	.											.	OR8D2	65	.	0			c.G365A						PASS	.	C	HIS/ARG	1863,2539	632.0+/-395.8	384,1095,722	93	88	90		365	1.6	0.3	11	dbSNP_100	90	1275,7323	759.9+/-407.6	112,1051,3136	yes	missense	OR8D2	NM_001002918.1	29	496,2146,3858	TT,TC,CC		14.829,42.3217,24.1385	benign	122/312	124189729	3138,9862	2201	4299	6500	SO:0001583	missense	283160	exon1			ACATAACGGTCAT	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.365G>A	11.37:g.124189729C>T	ENSP00000350022:p.Arg122His	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	113	39	0.345133	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	520	0.23809523809523808	224	0.45528455284552843	71	0.19613259668508287	124	0.21678321678321677	101	0.13324538258575197	t	8.823	0.938032	0.18206	0.423217	0.14829	ENSG00000197263	ENST00000357438	T	0.77489	-1.1	3.59	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.277746	0.25817	N	0.028104	T	0.00012	0.0000	M	0.81179	2.53	0.31244	P	0.6948639999999999	B	0.06786	0.001	B	0.04013	0.001	T	0.27905	-1.0060	9	0.87932	D	0	.	9.5229	0.39147	0.0:0.8075:0.0:0.1925	rs2512219;rs52814690;rs56609149;rs61070044;rs2512219	122	Q9GZM6	OR8D2_HUMAN	H	122	ENSP00000350022:R122H	ENSP00000350022:R122H	R	-	2	0	OR8D2	123694939	0.978000	0.34361	0.318000	0.25279	0.021000	0.10359	5.273000	0.65564	0.473000	0.27368	-0.271000	0.10264	CGT	C|0.749;T|0.250	0.250	strong		0.413	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		T	124189729	C	T	124189729	3	4	23	1	0	0	0	0	1	0	0	0	11232	536	19	1	573	1	OR8D2	11	124189729	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	423	124189729	10816787	2937	19393										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266697	124266698	+	Frame_Shift_Ins	INS	-	-	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgcaggaaagctggaggaINSgggggagtatgtcacacaag					rs201661436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:124266697_124266698insG	ENST00000354597.3	-	1	566_567	c.550_551insC	c.(550-552)ctcfs	p.L184fs		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGCTGGAGGAGGGGGAGTATG	0.49													ggggg|GGGGG|GGGGGG|insertion	176	0.0351438	0.0008	0.0288	5008	,	,		20997	0.0079		0.0477	False		,,,				2504	0.1012				p.L184fs		Atlas-Indel	.											.	OR8B3	36	.	0			c.551_552insC						PASS	.			41,4223		0,41,2091						3.6	1			43	431,7821		14,403,3709	no	frameshift	OR8B3	NM_001005467.1		14,444,5800	A1A1,A1R,RR		5.223,0.9615,3.7712				472,12044				SO:0001589	frameshift_variant	390271	exon1			.	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.551dupC	11.37:g.124266702_124266702dupG	ENSP00000346611:p.Leu184fs	Somatic	588	0	0		WXS	Illumina HiSeq	Phase_I	999	198	0.198198	NM_001005467	Q6IFQ8|Q8NGH1	Frame_Shift_Ins	INS	ENST00000354597.3	37	CCDS31709.1																																																																																			-|0.977;G|0.023	0.023	strong		0.49	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266698	-	G	124266697	7	5	23	1	0	1	1	0	0	0	0	0	11228	304	11	0	392	0	OR8B3	11	124266697	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	76968	124266697	10739819	2938	19394										
SLC37A2	219855	hgsc.bcm.edu	37	chr11	124949044	124949044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcttccgctccgttactaCctctcagctggaatgctgct	9	15	1	0	rs33932952|rs373958961	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:124949044C>T	ENST00000403796.2	+	5	652	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC37A2_ENST00000407458.1_Silent_p.Y117Y|SLC37A2_ENST00000308074.4_Silent_p.Y117Y|SLC37A2_ENST00000298280.5_Silent_p.Y117Y	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	117					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Y117Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCGTTACTACCTCTCAGCTG	0.542													C|||	664	0.132588	0.18	0.1023	5008	,	,		20435	0.0605		0.1918	False		,,,				2504	0.1033				p.Y117Y	Melanoma(11;373 620 21213 26083 47768)	Atlas-SNP	.											SLC37A2,NS,carcinoma,0,1	SLC37A2	105	1	1	Substitution - coding silent(1)	stomach(1)	c.C351T						PASS	.	C	,	887,3515	344.1+/-307.9	92,703,1406	153	147	149		351,351	4.6	1	11	dbSNP_126	149	1719,6879	314.6+/-311.9	172,1375,2752	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	264,2078,4158	TT,TC,CC		19.993,20.1499,20.0462	,	117/502,117/506	124949044	2606,10394	2201	4299	6500	SO:0001819	synonymous_variant	219855	exon5			TTACTACCTCTCA	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.351C>T	11.37:g.124949044C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	354	233	0.658192	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																			C|0.814;T|0.186	0.186	strong		0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		T	124949044	C	T	124949044	2	4	23	1	0	0	0	0	0	0	0	1	14598	518	18	2		2	SLC37A2	11	124949044	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	682347	124949044	10057472	2939	19395										
PKNOX2	63876	hgsc.bcm.edu	37	chr11	125280737	125280737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaggtggtcacccaagcaAtcccccagggagccatccag	11	15	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125280737A>C	ENST00000298282.9	+	9	1052	c.781A>C	c.(781-783)Atc>Ctc	p.I261L	PKNOX2_ENST00000542175.1_Missense_Mutation_p.I197L|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	261					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CACCCAAGCAATCCCCCAGGG	0.562																																					p.I261L		Atlas-SNP	.											PKNOX2,caecum,carcinoma,-1,1	PKNOX2	60	1	0			c.A781C						scavenged	.						102	101	101					11																	125280737		2020	4185	6205	SO:0001583	missense	63876	exon9			CAAGCAATCCCCC	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.781A>C	11.37:g.125280737A>C	ENSP00000298282:p.Ile261Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	195	3	0.0153846	NM_022062	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	7.457	0.643961	0.14451	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.83419	-1.71;-1.71;-1.72;-1.71	5.52	5.52	0.82312	.	0.061076	0.64402	D	0.000003	T	0.65154	0.2664	N	0.04508	-0.205	0.46416	D	0.999038	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.62393	-0.6864	10	0.09843	T	0.71	-16.4441	15.31	0.74023	1.0:0.0:0.0:0.0	.	197;261	F5GZ15;Q96KN3	.;PKNX2_HUMAN	L	232;232;261;197;249	ENSP00000434732:I232L;ENSP00000433971:I232L;ENSP00000298282:I261L;ENSP00000441470:I197L	ENSP00000298282:I261L	I	+	1	0	PKNOX2	124785947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.672000	0.46850	2.091000	0.63221	0.533000	0.62120	ATC	.	.	none		0.562	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			C	125280737	A	C	125280737	3	2	23	1	0	0	0	0	1	0	0	0	11983	101	4	5	803	5	PKNOX2	11	125280737	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	331693	125280737	9725779	2940	19396										
EI24	9538	hgsc.bcm.edu	37	chr11	125452313	125452313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaaagaccctggcaaagcAtagtaagtattagccagtga	10	8	0	2	rs4627097	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125452313A>G	ENST00000343678.4	+	10	985	c.743A>G	c.(742-744)cAt>cGt	p.H248R	EI24_ENST00000278903.6_Silent_p.A285A|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		CTGGCAAAGCATAGTAAGTAT	0.343													G|||	1705	0.340455	0.3835	0.2594	5008	,	,		13966	0.2976		0.3658	False		,,,				2504	0.3579				p.I249V		Atlas-SNP	.											.	EI24	33	.	0			c.A745G						PASS	.	G	,ARG/HIS	1334,2298		248,838,730	35	34	34		857,745	-7.7	0.8	11	dbSNP_111	34	2872,5278		483,1906,1686	yes	coding-synonymous,missense	EI24	NM_004879.3,NM_001007277.1	,29	731,2744,2416	GG,GA,AA		35.2393,36.7291,35.6985	,benign	286/341,249/263	125452313	4206,7576	1816	4075	5891	SO:0001583	missense	9538	exon9			CAAAGCATAGTAA	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000343678.4:c.743A>G	11.37:g.125452313A>G	ENSP00000364081:p.His248Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	81	52	0.641975	NM_001007277	A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000343678.4	37		742	0.33974358974358976	199	0.40447154471544716	101	0.27900552486187846	165	0.28846153846153844	277	0.3654353562005277	G	9.401	1.078074	0.20227	0.367291	0.352393	ENSG00000149547	ENST00000343678	.	.	.	4.73	-7.71	0.01254	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41840	-0.9486	6	0.46703	T	0.11	.	6.6214	0.22806	0.3693:0.0:0.381:0.2496	rs4627097;rs17174519;rs59674749;rs4627097	248	A6NES3	.	R	248	.	ENSP00000364081:H248R	H	+	2	0	EI24	124957523	0.001000	0.12720	0.795000	0.32087	0.882000	0.50991	-1.460000	0.02368	-1.390000	0.02087	-1.951000	0.00486	CAT	A|0.658;G|0.342	0.342	strong		0.343	EI24-202	KNOWN	basic	protein_coding	protein_coding		NM_004879		G	125452313	A	G	125452313	3	3	23	1	0	0	0	0	1	0	0	0	4985	217	8	2	891	2	EI24	11	125452313	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	171576	125452313	9554203	2941	19397										
STT3A	3703	hgsc.bcm.edu	37	chr11	125479363	125479363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacggggcgtttctactcGctgctggatccctcttatgc	12	12	2	0	rs2241502	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125479363G>A	ENST00000529196.1	+	11	1202	c.996G>A	c.(994-996)tcG>tcA	p.S332S	STT3A_ENST00000531491.1_Silent_p.S240S|STT3A_ENST00000392708.4_Silent_p.S332S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	332					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GTTTCTACTCGCTGCTGGATC	0.453													A|||	2100	0.419329	0.5227	0.2752	5008	,	,		19315	0.4335		0.3787	False		,,,				2504	0.409				p.S332S		Atlas-SNP	.											STT3A,NS,carcinoma,+1,1	STT3A	52	1	0			c.G996A						PASS	.	A		2208,2194	588.4+/-386.9	570,1068,563	200	189	193		996	-4.4	0.9	11	dbSNP_98	193	3157,5441	655.5+/-401.3	583,1991,1725	no	coding-synonymous	STT3A	NM_152713.3		1153,3059,2288	AA,AG,GG		36.7178,49.841,41.2692		332/706	125479363	5365,7635	2201	4299	6500	SO:0001819	synonymous_variant	3703	exon10			CTACTCGCTGCTG	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.996G>A	11.37:g.125479363G>A		Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	438	291	0.664384	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	CCDS8458.1	893	0.4088827838827839	280	0.5691056910569106	114	0.3149171270718232	220	0.38461538461538464	279	0.36807387862796836	A	20.3	3.961505	0.74016	0.50159	0.367178	ENSG00000134910	ENST00000526726	.	.	.	5.4	-4.43	0.03568	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.47484	-0.9114	3	.	.	.	-7.8117	0.9414	0.01356	0.2588:0.3186:0.2101:0.2125	rs2241502;rs17720009;rs59721461;rs2241502	.	.	.	T	75	.	.	A	+	1	0	STT3A	124984573	0.016000	0.18221	0.950000	0.38849	0.919000	0.55068	-0.694000	0.05115	-0.923000	0.03785	-1.905000	0.00526	GCT	G|0.582;A|0.418	0.418	strong		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		A	125479363	G	A	125479363	2	1	23	1	0	0	0	0	0	0	0	1	15332	1074	38	1		1	STT3A	11	125479363	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27050	125479363	9527153	2942	19398										
ACRV1	56	hgsc.bcm.edu	37	chr11	125547897	125547897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttcacctgaaggctgttcTcctgaaggctgctcacctac	9	13	3	2	rs556986916|rs555402913	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125547897T>C	ENST00000533904.1	-	2	690	c.348A>G	c.(346-348)ggA>ggG	p.G116G	ACRV1_ENST00000530048.1_Silent_p.G61G|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Silent_p.G46G|ACRV1_ENST00000315608.3_Silent_p.G116G|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000348856.3_Silent_p.G61G|ACRV1_ENST00000345274.1_Silent_p.G46G|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Silent_p.G46G			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	116	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AAGGCTGTTCTCCTGAAGGCT	0.527																																					p.G116G		Atlas-SNP	.											ACRV1,caecum,carcinoma,-1,1	ACRV1	21	1	0			c.A348G						scavenged	.						154	136	142					11																	125547897		2201	4299	6500	SO:0001819	synonymous_variant	56	exon2			CTGTTCTCCTGAA	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.348A>G	11.37:g.125547897T>C		Somatic	232	1	0.00431034		WXS	Illumina HiSeq	Phase_I	376	4	0.0106383	NM_001612	Q53FF4	Silent	SNP	ENST00000533904.1	37	CCDS8460.1																																																																																			.	.	none		0.527	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		C	125547897	T	C	125547897	2	2	23	1	0	0	0	0	0	0	0	1	172	1538	54	3		3	ACRV1	11	125547897	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	68534	125547897	9458619	2943	19399										
PATE1	160065	hgsc.bcm.edu	37	chr11	125617610	125617610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagtgatagaaattgttcAgtgtaggatgtgccacctcc	10	9	1	2	rs2114084	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125617610A>G	ENST00000305738.5	+	4	152	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	PATE1_ENST00000437148.2_Missense_Mutation_p.Q35R	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	47			Q -> R (in dbSNP:rs2114084). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						GAAATTGTTCAGTGTAGGATG	0.493													A|||	1690	0.33746	0.3797	0.2219	5008	,	,		20322	0.4375		0.2893	False		,,,				2504	0.3088				p.Q47R		Atlas-SNP	.											.	PATE1	21	.	0			c.A140G						PASS	.	A	ARG/GLN	1661,2741	505.2+/-366.1	329,1003,869	90	86	87		140	4.2	0.7	11	dbSNP_96	87	2480,6118	407.8+/-349.3	358,1764,2177	yes	missense	PATE1	NM_138294.2	43	687,2767,3046	GG,GA,AA		28.8439,37.7328,31.8538	possibly-damaging	47/127	125617610	4141,8859	2201	4299	6500	SO:0001583	missense	160065	exon4			TTGTTCAGTGTAG	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.140A>G	11.37:g.125617610A>G	ENSP00000307164:p.Gln47Arg	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	73	46	0.630137	NM_138294	Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	CCDS8464.1	724	0.3315018315018315	191	0.3882113821138211	96	0.26519337016574585	221	0.38636363636363635	216	0.2849604221635884	A	9.678	1.148572	0.21288	0.377328	0.288439	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.34275	1.37;1.37	4.19	4.19	0.49359	.	0.229282	0.22480	N	0.059503	T	0.00012	0.0000	L	0.40543	1.245	0.38885	P	0.04301100000000002	D;D	0.71674	0.992;0.998	P;D	0.64776	0.876;0.929	T	0.44174	-0.9345	9	0.32370	T	0.25	0.6542	9.9222	0.41470	1.0:0.0:0.0:0.0	rs2114084;rs57813227;rs2114084	35;47	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	R	47;35	ENSP00000307164:Q47R;ENSP00000396056:Q35R	ENSP00000307164:Q47R	Q	+	2	0	PATE1	125122820	0.341000	0.24801	0.664000	0.29753	0.188000	0.23474	1.778000	0.38614	2.115000	0.64714	0.533000	0.62120	CAG	A|0.675;G|0.325	0.325	strong		0.493	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		G	125617610	A	G	125617610	3	3	23	1	0	0	0	0	1	0	0	0	11473	188	7	3	154	3	PATE1	11	125617610	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	69713	125617610	9388906	2944	19400										
CDON	50937	hgsc.bcm.edu	37	chr11	125873796	125873796	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaaggaagccctcactcaCctttgctggttcggaaggta	10	12	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125873796C>T	ENST00000392693.3	-	10	2154		c.e10+1		CDON_ENST00000263577.7_Splice_Site|CDON_ENST00000531738.1_Splice_Site	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCCTCACTCACCTTTGCTGGT	0.458																																					.		Atlas-SNP	.											.	CDON	137	.	0			c.2026+1G>A						PASS	.						83	75	78					11																	125873796		2201	4299	6500	SO:0001630	splice_region_variant	50937	exon11			CACTCACCTTTGC	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2026+1G>A	11.37:g.125873796C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	97	5	0.0515464	NM_001243597	O14631	Splice_Site	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483812	0.44147	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDON	125379006	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	.	.	.	none		0.458	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	Intron	T	125873796	C	T	125873796	5	4	23	1	0	0	0	0	0	0	1	0	3170	521	18	2	1811	2	CDON	11	125873796	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	256186	125873796	9132720	2945	19401										
CDON	50937	hgsc.bcm.edu	37	chr11	125889526	125889526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctcacctgtggaatgttCcagccattttccccggattt	9	12	1	0	rs3740909	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:125889526C>T	ENST00000392693.3	-	4	611	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	CDON_ENST00000263577.7_Missense_Mutation_p.E162K	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	162	Ig-like C2-type 2.		E -> K (in dbSNP:rs3740909).		anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E162K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTGGAATGTTCCAGCCATTTT	0.463													T|||	561	0.112021	0.1142	0.1225	5008	,	,		16614	0.127		0.0885	False		,,,				2504	0.1104				p.E162K		Atlas-SNP	.											CDON,NS,carcinoma,0,1	CDON	137	1	1	Substitution - Missense(1)	stomach(1)	c.G484A						PASS	.	T	LYS/GLU	545,3857	775.6+/-414.1	39,467,1695	147	151	149		484	4	0.9	11	dbSNP_107	149	739,7859	785.5+/-407.6	30,679,3590	yes	missense	CDON	NM_016952.4	56	69,1146,5285	TT,TC,CC		8.595,12.3807,9.8769	benign	162/1265	125889526	1284,11716	2201	4299	6500	SO:0001583	missense	50937	exon4			AATGTTCCAGCCA	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.484G>A	11.37:g.125889526C>T	ENSP00000376458:p.Glu162Lys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	203	51	0.251232	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	235|235	0.10760073260073261|0.10760073260073261	59|59	0.11991869918699187|0.11991869918699187	42|42	0.11602209944751381|0.11602209944751381	63|63	0.11013986013986014|0.11013986013986014	71|71	0.09366754617414248|0.09366754617414248	T|T	6.637|6.637	0.485978|0.485978	0.12641|0.12641	0.123807|0.123807	0.08595|0.08595	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586|ENST00000534661	T;T;T|.	0.60548|.	2.7;2.7;0.18|.	5.33|5.33	4.03|4.03	0.46877|0.46877	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.362364|.	0.23589|.	N|.	0.046564|.	T|T	0.00552|0.00552	0.0018|0.0018	L|L	0.35793|0.35793	1.09|1.09	0.58432|0.58432	P|P	5.000000000032756E-6|5.000000000032756E-6	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.11329|.	0.0;0.006;0.003|.	T|T	0.12889|0.12889	-1.0530|-1.0530	9|4	0.02654|.	T|.	1|.	-5.3068|-5.3068	4.0763|4.0763	0.09906|0.09906	0.0:0.2693:0.1793:0.5514|0.0:0.2693:0.1793:0.5514	rs3740909;rs58697958;rs3740909|rs3740909;rs58697958;rs3740909	162;162;162|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	K|E	162|137	ENSP00000376458:E162K;ENSP00000263577:E162K;ENSP00000434212:E162K|.	ENSP00000263577:E162K|.	E|G	-|-	1|2	0|0	CDON|CDON	125394736|125394736	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.969000|0.969000	0.65631|0.65631	1.933000|1.933000	0.40153|0.40153	0.961000|0.961000	0.38030|0.38030	-0.361000|-0.361000	0.07541|0.07541	GAA|GGA	C|0.896;N|0.000	.	strong		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125889526	C	T	125889526	3	4	23	1	0	0	0	0	1	0	0	0	3170	864	30	2	3378	2	CDON	11	125889526	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15730	125889526	9116990	2946	19402										
ST3GAL4	6484	hgsc.bcm.edu	37	chr11	126278203	126278203	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctcccaacccccagaTtgaacaatgccccagtggct	6	18	0	2	rs2298475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:126278203T>C	ENST00000526727.1	+	7	813	c.439T>C	c.(439-441)Ttg>Ctg	p.L147L	ST3GAL4_ENST00000227495.6_Splice_Site_p.L143L|ST3GAL4_ENST00000356132.4_Splice_Site_p.L153L|ST3GAL4_ENST00000532243.1_Splice_Site_p.L146L|ST3GAL4_ENST00000534457.1_Splice_Site_p.L142L|ST3GAL4_ENST00000392669.2_Splice_Site_p.L147L|ST3GAL4_ENST00000534083.1_Splice_Site_p.L147L|ST3GAL4_ENST00000444328.2_Splice_Site_p.L147L|ST3GAL4_ENST00000530591.1_Splice_Site_p.L143L|ST3GAL4_ENST00000449406.2_Splice_Site_p.L136L|ST3GAL4_ENST00000526756.1_3'UTR			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	147					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.L143L(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AACCCCCAGATTGAACAATGC	0.562													T|||	430	0.0858626	0.0129	0.0706	5008	,	,		18899	0.2222		0.0815	False		,,,				2504	0.0593				p.L147L		Atlas-SNP	.											ST3GAL4,NS,carcinoma,0,1	ST3GAL4	25	1	1	Substitution - coding silent(1)	stomach(1)	c.T439C						PASS	.	T		98,4304	78.3+/-116.7	1,96,2104	130	113	118		427	-5.7	0.3	11	dbSNP_100	118	655,7941	165.7+/-217.8	21,613,3664	yes	coding-synonymous-near-splice	ST3GAL4	NM_006278.1		22,709,5768	CC,CT,TT		7.6198,2.2263,5.7932		143/330	126278203	753,12245	2201	4298	6499	SO:0001630	splice_region_variant	6484	exon8			CCCAGATTGAACA	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.438-1T>C	11.37:g.126278203T>C		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	269	189	0.702602	NM_001254757	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	CCDS58193.1																																																																																			T|0.925;C|0.075	0.075	strong		0.562	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278	Silent	C	126278203	T	C	126278203	5	2	23	1	0	0	0	0	0	0	1	0	15216	1507	52	2	453	2	ST3GAL4	11	126278203	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	388677	126278203	8728313	2947	19403										
ETS1	2113	hgsc.bcm.edu	37	chr11	128333503	128333503	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattccagaagaaactgccaTagctggattggtccactgcc	9	11	0	2	rs2230004	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:128333503T>C	ENST00000319397.6	-	7	1320	c.1011A>G	c.(1009-1011)ctA>ctG	p.L337L	ETS1_ENST00000392668.4_Silent_p.L381L|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Silent_p.L121L|ETS1_ENST00000526145.2_Silent_p.L250L|ETS1_ENST00000345075.4_Silent_p.L250L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	337				SGPIQL -> RRPPAA (in Ref. 11; AAA52409). {ECO:0000305}.	angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAAACTGCCATAGCTGGATTG	0.468													C|||	2402	0.479633	0.4561	0.3646	5008	,	,		19297	0.5962		0.493	False		,,,				2504	0.4591				p.L381L		Atlas-SNP	.											.	ETS1	123	.	0			c.A1143G						PASS	.	C	,,	2090,2312	603.0+/-390.0	517,1056,628	106	104	105		1143,363,1011	5.9	1	11	dbSNP_116	105	4034,4560	596.3+/-393.6	932,2170,1195	no	coding-synonymous,coding-synonymous,coding-synonymous	ETS1	NM_001143820.1,NM_001162422.1,NM_005238.3	,,	1449,3226,1823	CC,CT,TT		46.9397,47.4784,47.1222	,,	381/486,121/226,337/442	128333503	6124,6872	2201	4297	6498	SO:0001819	synonymous_variant	2113	exon9			CTGCCATAGCTGG		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.1011A>G	11.37:g.128333503T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	114	77	0.675439	NM_001143820	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	CCDS8475.1																																																																																			T|0.524;C|0.476	0.476	strong		0.468	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		C	128333503	T	C	128333503	2	2	23	1	0	0	0	0	0	0	0	1	5275	1393	49	2		2	ETS1	11	128333503	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2055300	128333503	6673013	2948	19404										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129785594	129785594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcagtggggacagcagacGggaggggtggcgatggtgcc	22	7	0	1	rs3734073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:129785594G>A	ENST00000360871.3	-	16	2718	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P	PRDM10_ENST00000358825.5_Silent_p.P833P|PRDM10_ENST00000528746.1_Silent_p.P803P|PRDM10_ENST00000423662.2_Silent_p.P747P|PRDM10_ENST00000304538.6_Silent_p.P743P|PRDM10_ENST00000526082.1_Silent_p.P747P	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	833					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)		GACAGCAGACGGGAGGGGTGG	0.597													G|||	1149	0.229433	0.1218	0.2896	5008	,	,		16915	0.1567		0.3231	False		,,,				2504	0.3108				p.P833P		Atlas-SNP	.											PRDM10,colon,carcinoma,0,1	PRDM10	120	1	0			c.C2499T						PASS	.	G	,,,	726,3676	300.7+/-286.5	64,598,1539	104	101	102		2499,2487,2241,2229	-7.1	0.7	11	dbSNP_107	102	2773,5821	441.1+/-359.7	439,1895,1963	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	503,2493,3502	AA,AG,GG		32.2667,16.4925,26.9237	,,,	833/1161,829/1157,747/1062,743/1024	129785594	3499,9497	2201	4297	6498	SO:0001819	synonymous_variant	56980	exon17			GCAGACGGGAGGG	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.2487C>T	11.37:g.129785594G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	270	80	0.296296	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																			G|0.729;A|0.271	0.271	strong		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		A	129785594	G	A	129785594	2	1	23	1	0	0	0	0	0	0	0	1	12451	1103	39	1		1	PRDM10	11	129785594	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1452091	129785594	5220922	2949	19405										
PRDM10	56980	hgsc.bcm.edu	37	chr11	129830796	129830796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaccagtcttcacctgtgCggcattctgttcatgctctg	9	12	5	1	rs11221912	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:129830796C>T	ENST00000360871.3	-	2	295	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PRDM10_ENST00000358825.5_Missense_Mutation_p.A22T|PRDM10_ENST00000528746.1_Missense_Mutation_p.A22T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	22			A -> T (in dbSNP:rs11221912).		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)	p.A22T(1)		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)		TTCACCTGTGCGGCATTCTGT	0.493													C|||	1397	0.278954	0.3949	0.1758	5008	,	,		18326	0.5417		0.0557	False		,,,				2504	0.1544				p.A22T		Atlas-SNP	.											PRDM10,NS,carcinoma,0,1	PRDM10	120	1	1	Substitution - Missense(1)	stomach(1)	c.G64A						PASS	.	C	THR/ALA,THR/ALA	1553,2849	487.6+/-361.0	272,1009,920	139	124	129		64,64	-0.9	0	11	dbSNP_120	129	475,8119	139.5+/-196.2	13,449,3835	yes	missense,missense	PRDM10	NM_020228.2,NM_199437.1	58,58	285,1458,4755	TT,TC,CC		5.5271,35.2794,15.6048	benign,benign	22/1161,22/1157	129830796	2028,10968	2201	4297	6498	SO:0001583	missense	56980	exon2			CCTGTGCGGCATT	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.64G>A	11.37:g.129830796C>T	ENSP00000354118:p.Ala22Thr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	133	34	0.255639	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	594	0.27197802197802196	196	0.3983739837398374	54	0.14917127071823205	308	0.5384615384615384	36	0.047493403693931395	C	11.92	1.781863	0.31502	0.352794	0.055271	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.52295	2.76;2.75;2.76;0.67;0.68	5.39	-0.936	0.10419	.	0.349382	0.28871	N	0.013866	T	0.00012	0.0000	L	0.27053	0.805	0.22342	P	0.999180817	B;B;B	0.14438	0.01;0.006;0.001	B;B;B	0.12156	0.007;0.002;0.0	T	0.48175	-0.9058	9	0.51188	T	0.08	-3.0822	10.3723	0.44062	0.0:0.611:0.0:0.389	rs11221912;rs58525085;rs11221912	22;22;22	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	T	22	ENSP00000351686:A22T;ENSP00000354118:A22T;ENSP00000431262:A22T;ENSP00000432093:A22T;ENSP00000436681:A22T	ENSP00000351686:A22T	A	-	1	0	PRDM10	129336006	0.041000	0.20044	0.002000	0.10522	0.116000	0.19942	0.163000	0.16520	-0.364000	0.08088	-0.143000	0.13931	GCA	C|0.776;T|0.224	0.224	strong		0.493	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		T	129830796	C	T	129830796	3	4	23	1	0	0	0	0	1	0	0	0	12451	768	27	1	3538	1	PRDM10	11	129830796	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45202	129830796	5175720	2950	19406										
ST14	6768	hgsc.bcm.edu	37	chr11	130058047	130058047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggcgtggagttcctgccAgtcaacaacgtcaagaaggt	13	9	2	1	rs62642510	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:130058047A>G	ENST00000278742.5	+	2	538	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	40					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTTCCTGCCAGTCAACAACG	0.632													G|||	512	0.102236	0.3245	0.0562	5008	,	,		17883	0.0		0.0378	False		,,,				2504	0.0061				p.P40P		Atlas-SNP	.											.	ST14	82	.	0			c.A120G						PASS	.	G		1201,3201	707.7+/-407.5	179,843,1179	68	62	64		120	-9.9	0	11	dbSNP_129	64	371,8223	802.5+/-407.3	6,359,3932	no	coding-synonymous	ST14	NM_021978.3		185,1202,5111	GG,GA,AA		4.317,27.2831,12.096		40/856	130058047	1572,11424	2201	4297	6498	SO:0001819	synonymous_variant	6768	exon2			CCTGCCAGTCAAC	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.120A>G	11.37:g.130058047A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	178	128	0.719101	NM_021978	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	CCDS8487.1																																																																																			A|0.885;G|0.115	0.115	strong		0.632	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			G	130058047	A	G	130058047	2	3	23	1	0	0	0	0	0	0	0	1	15210	175	7	3		3	ST14	11	130058047	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	227251	130058047	4948469	2951	19407										
IGSF9B	22997	hgsc.bcm.edu	37	chr11	133795708	133795708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcaactcccagcgctctgCgacacggaactccatgatgt	10	14	1	1	rs202174159		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:133795708C>T	ENST00000321016.8	-	14	2190	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A654T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	654	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGCGCTCTGCGACACGGAAC	0.592																																					p.A654T		Atlas-SNP	.											IGSF9B_ENST00000321016,NS,carcinoma,0,2	IGSF9B	290	2	0			c.G1960A						scavenged	.	C	THR/ALA	1,4181		0,1,2090	51	56	54		1960	5.3	0.6	11		54	2,8458		0,2,4228	yes	missense	IGSF9B	NM_014987.1	58	0,3,6318	TT,TC,CC		0.0236,0.0239,0.0237	benign	654/1350	133795708	3,12639	2091	4230	6321	SO:0001583	missense	22997	exon14			GCTCTGCGACACG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1960G>A	11.37:g.133795708C>T	ENSP00000317980:p.Ala654Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	146	2	0.0136986	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	C	18.30	3.594159	0.66219	2.39E-4	2.36E-4	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56611	0.45;0.45;0.45	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152969	0.30519	N	0.009451	T	0.46580	0.1400	N	0.22421	0.69	0.29679	N	0.841878	B	0.28026	0.198	B	0.34824	0.19	T	0.49643	-0.8918	10	0.45353	T	0.12	.	19.0783	0.93171	0.0:1.0:0.0:0.0	.	654	Q9UPX0	TUTLB_HUMAN	T	654;496;654	ENSP00000317980:A654T;ENSP00000436552:A496T;ENSP00000436576:A654T	ENSP00000317980:A654T	A	-	1	0	IGSF9B	133300918	0.998000	0.40836	0.644000	0.29465	0.721000	0.41392	5.833000	0.69349	2.504000	0.84457	0.655000	0.94253	GCA	.	.	weak		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133795708	C	T	133795708	3	4	23	1	0	0	0	0	1	0	0	0	7606	768	27	1	2113	1	IGSF9B	11	133795708	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3737661	133795708	1210808	2952	19408										
NCAPD3	23310	hgsc.bcm.edu	37	chr11	134062764	134062764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaccaccgggaccacccccCgcaaccaggctttctggatc	8	19	2	0	rs12292394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr11:134062764C>T	ENST00000534548.2	-	16	1929	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	622			R -> Q (in dbSNP:rs12292394).		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)		GACCACCCCCCGCAACCAGGC	0.547													C|||	130	0.0259585	0.0008	0.0231	5008	,	,		16262	0.0149		0.0537	False		,,,				2504	0.045				p.R622Q		Atlas-SNP	.											.	NCAPD3	141	.	0			c.G1865A						PASS	.	C	GLN/ARG	39,4363	42.3+/-75.8	0,39,2162	76	74	75		1865	-11.8	0	11	dbSNP_120	75	508,8086	144.5+/-200.4	17,474,3806	yes	missense	NCAPD3	NM_015261.2	43	17,513,5968	TT,TC,CC		5.9111,0.886,4.209	benign	622/1499	134062764	547,12449	2201	4297	6498	SO:0001583	missense	23310	exon16			ACCCCCCGCAACC	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.1865G>A	11.37:g.134062764C>T	ENSP00000433681:p.Arg622Gln	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	142	29	0.204225	NM_015261	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	59	0.027014652014652016	1	0.0020325203252032522	11	0.03038674033149171	8	0.013986013986013986	39	0.051451187335092345	C	1.884	-0.457079	0.04540	0.00886	0.059111	ENSG00000151503	ENST00000534548	T	0.64260	-0.09	5.88	-11.8	0.00035	Armadillo-like helical (1);Armadillo-type fold (1);	0.776444	0.12953	N	0.425681	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04427	-1.0952	10	0.13470	T	0.59	-0.2737	3.2744	0.06893	0.135:0.157:0.3922:0.3158	rs12292394;rs12292394	622	P42695	CNDD3_HUMAN	Q	622	ENSP00000433681:R622Q	ENSP00000431612:R622Q	R	-	2	0	NCAPD3	133567974	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.370000	0.02575	-2.799000	0.00353	-2.351000	0.00242	CGG	C|0.962;T|0.038	0.038	strong		0.547	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134062764	C	T	134062764	3	4	23	1	0	0	0	0	1	0	0	0	10206	652	23	1	2711	1	NCAPD3	11	134062764	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	267056	134062764	943752	2953	19409										
SLC6A12	6539	hgsc.bcm.edu	37	chr12	311949	311949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcgtccagggcagctcagaAgtgaaggagctgaacaggta	15	8	1	3	rs216250	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:311949A>G	ENST00000428720.1	-	5	1190	c.447T>C	c.(445-447)acT>acC	p.T149T	SLC6A12_ENST00000359674.4_Silent_p.T149T|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.T149T|SLC6A12_ENST00000424061.2_Silent_p.T149T|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Silent_p.T149T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	149					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCAGCTCAGAAGTGAAGGAGC	0.517													G|||	3085	0.616014	0.767	0.5908	5008	,	,		20019	0.6339		0.4632	False		,,,				2504	0.5685				p.T149T		Atlas-SNP	.											.	SLC6A12	60	.	0			c.T447C						PASS	.	G	,,,	3065,1341	447.9+/-348.5	1074,917,212	117	103	108		447,447,447,447	5.5	1	12	dbSNP_79	108	3811,4789	613.3+/-396.1	866,2079,1355	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	,,,	1940,2996,1567	GG,GA,AA		44.314,30.4358,47.1321	,,,	149/615,149/615,149/615,149/615	311949	6876,6130	2203	4300	6503	SO:0001819	synonymous_variant	6539	exon5			CTCAGAAGTGAAG	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.447T>C	12.37:g.311949A>G		Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	90	86	0.955556	NM_001122848	A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	CCDS8501.1																																																																																			A|0.437;G|0.563	0.563	strong		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		G	311949	A	G	311949	2	3	23	1	0	0	0	0	0	0	0	1	14675	59	3	3		3	SLC6A12	12	311949	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10		311949	133539946	2954	19410										
KDM5A	5927	hgsc.bcm.edu	37	chr12	406292	406292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtgggtcaccacctcctcGgatttgatgggaatctcttc	10	11	2	1	rs2229351	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:406292G>A	ENST00000399788.2	-	25	4511	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	KDM5A_ENST00000382815.4_Silent_p.S1383S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1383					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCACCTCCTCGGATTTGATGG	0.418			T	NUP98	AML								G|||	1766	0.352636	0.3306	0.3199	5008	,	,		18093	0.5109		0.2326	False		,,,				2504	0.3661				p.S1383S		Atlas-SNP	.		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	KDM5A_ENST00000399788,trunk,malignant_melanoma,-1,2	KDM5A	307	2	0			c.C4149T						PASS	.	G		1187,2579		201,785,897	65	64	64		4149	-3.8	1	12	dbSNP_98	64	2087,6129		276,1535,2297	no	coding-synonymous	KDM5A	NM_001042603.1		477,2320,3194	AA,AG,GG		25.4017,31.5189,27.3243		1383/1691	406292	3274,8708	1883	4108	5991	SO:0001819	synonymous_variant	5927	exon25			CTCCTCGGATTTG		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4149C>T	12.37:g.406292G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																			T|0.139;G|0.444;C|0.211;A|0.206	0.206	strong		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	406292	G	A	406292	2	1	23	1	0	0	0	0	0	0	0	1	8133	1103	39	1		1	KDM5A	12	406292	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	94343	406292	133445603	2955	19411										
KDM5A	5927	hgsc.bcm.edu	37	chr12	427575	427575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaatctggggtttcatccAtcatggcctcctgagcacgt	10	11	3	2	rs11062385	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:427575A>G	ENST00000399788.2	-	19	2956	c.2594T>C	c.(2593-2595)aTg>aCg	p.M865T	KDM5A_ENST00000382815.4_Missense_Mutation_p.M865T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	865			M -> T (in dbSNP:rs11062385).		chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGTTTCATCCATCATGGCCTC	0.393			T	NUP98	AML								A|||	1768	0.353035	0.3321	0.3199	5008	,	,		21745	0.5109		0.2326	False		,,,				2504	0.3661				p.M865T		Atlas-SNP	.		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	.	KDM5A	307	.	0			c.T2594C						PASS	.	A	THR/MET	1180,2546		203,774,886	108	105	106		2594	4	1	12	dbSNP_120	106	2085,6131		276,1533,2299	yes	missense	KDM5A	NM_001042603.1	81	479,2307,3185	GG,GA,AA		25.3773,31.6694,27.3405	benign	865/1691	427575	3265,8677	1863	4108	5971	SO:0001583	missense	5927	exon19			TCATCCATCATGG		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2594T>C	12.37:g.427575A>G	ENSP00000382688:p.Met865Thr	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	159	73	0.459119	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	768	0.3516483516483517	181	0.3678861788617886	116	0.32044198895027626	289	0.5052447552447552	182	0.24010554089709762	A	6.591	0.477457	0.12521	0.316694	0.253773	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.39997	1.05;1.05;1.05	5.18	3.99	0.46301	Lysine-specific demethylase-like domain (1);	0.270105	0.38217	N	0.001762	T	0.00012	0.0000	N	0.01874	-0.695	0.32953	P	0.479989	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.46965	-0.9153	9	0.21014	T	0.42	-7.7721	6.1802	0.20468	0.7533:0.1572:0.0895:0.0	rs11062385;rs52835808;rs60765971;rs11062385	865;865;865	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	484;824;865;865;484	ENSP00000382688:M865T;ENSP00000372265:M865T;ENSP00000440622:M484T	ENSP00000261253:M484T	M	-	2	0	KDM5A	297836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.908000	0.56355	0.760000	0.33108	0.482000	0.46254	ATG	A|0.651;G|0.349	0.349	strong		0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		G	427575	A	G	427575	3	3	23	1	0	0	0	0	1	0	0	0	8133	217	8	2	2518	2	KDM5A	12	427575	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21283	427575	133424320	2956	19412										
B4GALNT3	283358	hgsc.bcm.edu	37	chr12	658993	658993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagacagcagccagccaCgtggactcctccaacgctct	8	18	1	1	rs73592377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:658993C>T	ENST00000266383.5	+	10	925	c.912C>T	c.(910-912)caC>caT	p.H304H		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	304					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCCAGCCACGTGGACTCCT	0.632													C|||	410	0.081869	0.1694	0.0663	5008	,	,		17948	0.001		0.0457	False		,,,				2504	0.0951				p.H304H		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.C912T						PASS	.	C		720,3686	296.7+/-284.4	53,614,1536	58	58	58		912	-1.1	0.2	12	dbSNP_130	58	346,8254	117.0+/-176.6	5,336,3959	yes	coding-synonymous	B4GALNT3	NM_173593.3		58,950,5495	TT,TC,CC		4.0233,16.3414,8.1962		304/999	658993	1066,11940	2203	4300	6503	SO:0001819	synonymous_variant	283358	exon10			CAGCCACGTGGAC	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.912C>T	12.37:g.658993C>T		Somatic	293	1	0.00341297		WXS	Illumina HiSeq	Phase_I	251	138	0.549801	NM_173593	Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																			C|0.925;T|0.075	0.075	strong		0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	658993	C	T	658993	2	4	23	1	0	0	0	0	0	0	0	1	1268	535	19	1		1	B4GALNT3	12	658993	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	231418	658993	133192902	2957	19413										
WNK1	65125	hgsc.bcm.edu	37	chr12	994014	994014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcattgctggagtcccaacCacagcagcagccacagcacc	9	16	0	0	rs10849577	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:994014C>T	ENST00000315939.6	+	19	4687	c.4044C>T	c.(4042-4044)acC>acT	p.T1348T	WNK1_ENST00000340908.4_Silent_p.T941T|WNK1_ENST00000537687.1_Silent_p.T1608T|WNK1_ENST00000535572.1_Silent_p.T1101T|WNK1_ENST00000530271.2_Silent_p.T1846T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1348					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGTCCCAACCACAGCAGCAG	0.493													C|||	580	0.115815	0.0363	0.1052	5008	,	,		19854	0.1825		0.1531	False		,,,				2504	0.1237				p.T1608T	Colon(19;451 567 6672 12618 28860)	Atlas-SNP	.											.	WNK1	403	.	0			c.C4824T						PASS	.	C	,,,	232,4174	138.0+/-173.8	9,214,1980	87	82	84		4824,3303,4044,4800	0.4	0	12	dbSNP_120	84	1222,7378	246.2+/-274.8	90,1042,3168	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WNK1	NM_001184985.1,NM_014823.2,NM_018979.3,NM_213655.4	,,,	99,1256,5148	TT,TC,CC		14.2093,5.2655,11.1795	,,,	1608/2643,1101/2135,1348/2383,1600/2635	994014	1454,11552	2203	4300	6503	SO:0001819	synonymous_variant	65125	exon19			CCCAACCACAGCA	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4044C>T	12.37:g.994014C>T		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	305	142	0.465574	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																			C|0.885;T|0.115	0.115	strong		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	994014	C	T	994014	2	4	23	1	0	0	0	0	0	0	0	1	17374	581	21	2		2	WNK1	12	994014	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	335021	994014	132857881	2958	19414										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2558186	2558186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataatttttacggtggaagcGtttttaaaagtaatcgccta	8	5	0	0	rs1544514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:2558186G>A	ENST00000347598.4	+	4	522	c.522G>A	c.(520-522)gcG>gcA	p.A174A	CACNA1C_ENST00000399597.1_Silent_p.A174A|CACNA1C_ENST00000399637.1_Silent_p.A174A|CACNA1C_ENST00000480911.1_Silent_p.A174A|CACNA1C_ENST00000399606.1_Silent_p.A174A|CACNA1C_ENST00000344100.3_Silent_p.A174A|CACNA1C_ENST00000399617.1_Silent_p.A174A|CACNA1C_ENST00000399634.1_Silent_p.A174A|CACNA1C_ENST00000399641.1_Silent_p.A174A|CACNA1C_ENST00000399644.1_Silent_p.A174A|CACNA1C_ENST00000399629.1_Silent_p.A174A|CACNA1C_ENST00000399621.1_Silent_p.A174A|CACNA1C_ENST00000399591.1_Silent_p.A174A|CACNA1C_ENST00000399601.1_Silent_p.A174A|CACNA1C_ENST00000406454.3_Silent_p.A174A|CACNA1C_ENST00000399638.1_Silent_p.A174A|CACNA1C_ENST00000327702.7_Silent_p.A174A|CACNA1C_ENST00000335762.5_Silent_p.A174A|CACNA1C_ENST00000402845.3_Silent_p.A174A|CACNA1C_ENST00000399603.1_Silent_p.A174A|CACNA1C_ENST00000399649.1_Silent_p.A174A|CACNA1C_ENST00000399655.1_Silent_p.A174A|CACNA1C_ENST00000399595.1_Silent_p.A174A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	174					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTGGAAGCGTTTTTAAAAG	0.403													G|||	603	0.120407	0.0756	0.147	5008	,	,		17828	0.0655		0.1928	False		,,,				2504	0.1442				p.A174A		Atlas-SNP	.											CACNA1C_ENST00000344100,colon,carcinoma,+1,2	CACNA1C	1023	2	0			c.G522A						PASS	.	G	,,,,,,,,,,,,,,,,,,,,,,	326,3334		21,284,1525	90	84	86		522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522,522	-0.1	1	12	dbSNP_88	86	1749,6401		192,1365,2518	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	213,1649,4043	AA,AG,GG		21.4601,8.9071,17.5699	,,,,,,,,,,,,,,,,,,,,,,	174/2139,174/2187,174/2180,174/2174,174/2167,174/2159,174/2158,174/2158,174/2158,174/2156,174/2147,174/2147,174/2145,174/2139,174/2139,174/2139,174/2139,174/2136,174/2128,174/2139,174/2174,174/2199,174/2222	2558186	2075,9735	1830	4075	5905	SO:0001819	synonymous_variant	775	exon4			GGAAGCGTTTTTA	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.522G>A	12.37:g.2558186G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_001129831	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																			G|0.860;A|0.140	0.140	strong		0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2558186	G	A	2558186	2	1	23	1	0	0	0	0	0	0	0	1	2540	1132	40	1		1	CACNA1C	12	2558186	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1564172	2558186	131293709	2959	19415										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2694638	2694638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaaatccatcacggctgaCggagagtctccacccgccac	9	16	2	3	rs215976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:2694638C>T	ENST00000347598.4	+	17	2436	c.2436C>T	c.(2434-2436)gaC>gaT	p.D812D	CACNA1C_ENST00000399597.1_Silent_p.D812D|CACNA1C_ENST00000399637.1_Silent_p.D812D|CACNA1C_ENST00000480911.1_Silent_p.D812D|CACNA1C_ENST00000399606.1_Silent_p.D812D|CACNA1C_ENST00000344100.3_Silent_p.D812D|CACNA1C_ENST00000399617.1_Silent_p.D812D|CACNA1C_ENST00000399634.1_Silent_p.D812D|CACNA1C_ENST00000399641.1_Silent_p.D812D|CACNA1C_ENST00000399644.1_Silent_p.D812D|CACNA1C_ENST00000399629.1_Silent_p.D812D|CACNA1C_ENST00000399621.1_Silent_p.D812D|CACNA1C_ENST00000399591.1_Silent_p.D812D|CACNA1C_ENST00000399601.1_Silent_p.D812D|CACNA1C_ENST00000406454.3_Silent_p.D812D|CACNA1C_ENST00000399638.1_Silent_p.D812D|CACNA1C_ENST00000327702.7_Silent_p.D812D|CACNA1C_ENST00000335762.5_Silent_p.D837D|CACNA1C_ENST00000402845.3_Silent_p.D812D|CACNA1C_ENST00000399603.1_Silent_p.D812D|CACNA1C_ENST00000399649.1_Silent_p.D812D|CACNA1C_ENST00000399655.1_Silent_p.D812D|CACNA1C_ENST00000399595.1_Silent_p.D812D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	812					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACGGCTGACGGAGAGTCTC	0.612													C|||	729	0.145567	0.0877	0.0576	5008	,	,		14849	0.2966		0.0885	False		,,,				2504	0.1892				p.D812D		Atlas-SNP	.											Q6YL47_HUMAN,NS,carcinoma,0,5	CACNA1C	1023	5	0			c.C2436T						PASS	.	C	,,,,,,,,,,,,,,,,,,,,,,	319,3661		15,289,1686	14	19	17		2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2436,2427,2436,2436,2436,2436,2436	-0.6	0.9	12	dbSNP_79	17	652,7638		26,600,3519	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	41,889,5205	TT,TC,CC		7.8649,8.0151,7.9136	,,,,,,,,,,,,,,,,,,,,,,	812/2139,812/2187,812/2180,812/2174,812/2167,812/2159,812/2158,812/2158,812/2158,812/2156,812/2147,812/2147,812/2145,812/2139,812/2139,812/2139,812/2139,809/2136,812/2128,812/2139,812/2174,812/2199,812/2222	2694638	971,11299	1990	4145	6135	SO:0001819	synonymous_variant	775	exon17			GGCTGACGGAGAG	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2436C>T	12.37:g.2694638C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	91	47	0.516484	NM_001129831	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																			C|0.836;T|0.164	0.164	strong		0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2694638	C	T	2694638	2	4	23	1	0	0	0	0	0	0	0	1	2540	535	19	1		1	CACNA1C	12	2694638	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	136452	2694638	131157257	2960	19416										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2721137	2721137	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgctcttcactggcctcttCaccgtggagatgatcctgaa	9	12	4	3	rs216008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:2721137C>T	ENST00000347598.4	+	30	3846	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F	CACNA1C_ENST00000399597.1_Silent_p.F1262F|CACNA1C_ENST00000399637.1_Silent_p.F1262F|CACNA1C_ENST00000480911.1_Silent_p.F1262F|CACNA1C_ENST00000399606.1_Silent_p.F1282F|CACNA1C_ENST00000344100.3_Silent_p.F1262F|CACNA1C_ENST00000399617.1_Silent_p.F1262F|CACNA1C_ENST00000399634.1_Silent_p.F1262F|CACNA1C_ENST00000399641.1_Silent_p.F1262F|CACNA1C_ENST00000399644.1_Silent_p.F1262F|CACNA1C_ENST00000399629.1_Silent_p.F1262F|CACNA1C_ENST00000399621.1_Silent_p.F1262F|CACNA1C_ENST00000399591.1_Silent_p.F1262F|CACNA1C_ENST00000399601.1_Silent_p.F1262F|CACNA1C_ENST00000406454.3_Silent_p.F1262F|CACNA1C_ENST00000399638.1_Silent_p.F1262F|CACNA1C_ENST00000327702.7_Silent_p.F1262F|CACNA1C_ENST00000335762.5_Silent_p.F1287F|CACNA1C_ENST00000402845.3_Silent_p.F1262F|CACNA1C_ENST00000399603.1_Silent_p.F1262F|CACNA1C_ENST00000399649.1_Silent_p.F1262F|CACNA1C_ENST00000399655.1_Silent_p.F1262F|CACNA1C_ENST00000399595.1_Silent_p.F1262F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1282					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGCCTCTTCACCGTGGAGA	0.542													C|||	1298	0.259185	0.2413	0.2262	5008	,	,		21995	0.3512		0.2087	False		,,,				2504	0.2638				p.F1282F		Atlas-SNP	.											Q6YL47_HUMAN,NS,carcinoma,+2,4	CACNA1C	1023	4	0			c.C3846T						PASS	.						117	113	114					12																	2721137		2183	4296	6479	SO:0001819	synonymous_variant	775	exon30			CCTCTTCACCGTG	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3846C>T	12.37:g.2721137C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	153	64	0.418301	NM_199460	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																			C|0.730;T|0.270	0.270	strong		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2721137	C	T	2721137	2	4	23	1	0	0	0	0	0	0	0	1	2540	825	29	2		2	CACNA1C	12	2721137	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26499	2721137	131130758	2961	19417										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2794921	2794921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctctcctaccaggatgacGaaaatcggcaactgacgctc	10	13	1	2	rs200231105	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:2794921G>A	ENST00000347598.4	+	46	5737	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATGACGAAAATCGGCA	0.592																																					p.E1948K		Atlas-SNP	.											Q6YL47_HUMAN,NS,carcinoma,0,8	CACNA1C	1023	8	10	Substitution - Missense(10)	kidney(5)|endometrium(5)	c.G5842A						scavenged	.						47	48	48					12																	2794921		2013	4164	6177	SO:0001583	missense	775	exon47			GATGACGAAAATC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5737G>A	12.37:g.2794921G>A	ENSP00000266376:p.Glu1913Lys	Somatic	136	7	0.0514706		WXS	Illumina HiSeq	Phase_I	117	9	0.0769231	NM_199460	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988512	0.53934	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	3.35	0.38373	.	1.675690	0.03914	N	0.282339	T	0.64427	0.2597	L	0.39633	1.23	0.24214	N	0.99546	P;D;P;B;D;P;P;D;B;B;D;P;P;B;P;B;P;B;D;P;P;D;D;P;P	0.76494	0.801;0.999;0.941;0.097;0.999;0.921;0.953;0.961;0.11;0.33;0.978;0.941;0.757;0.432;0.902;0.306;0.757;0.062;0.978;0.588;0.769;0.961;0.961;0.882;0.941	B;P;B;B;D;B;B;P;B;B;P;B;B;B;B;B;B;B;P;B;B;P;P;B;B	0.78314	0.21;0.858;0.304;0.03;0.991;0.308;0.378;0.485;0.04;0.071;0.485;0.304;0.122;0.099;0.114;0.033;0.122;0.024;0.485;0.172;0.172;0.485;0.485;0.172;0.304	T	0.56056	-0.8042	10	0.07030	T	0.85	.	14.0749	0.64885	0.0:0.1521:0.8479:0.0	.	556;1906;1862;1948;1900;1884;1865;1882;1893;1865;1885;1865;1896;1913;1865;1900;1936;1873;1871;1873;1854;1884;1884;1865;1865	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1890;1865;1865;1893;1865;1884;1884;1873;1865;1913;1885;1865;1906;1882;1900;1871;1884;1865;1936;1900;1936;1873;1766	ENSP00000336982:E1890K;ENSP00000382563:E1865K;ENSP00000382552:E1865K;ENSP00000382547:E1893K;ENSP00000382506:E1865K;ENSP00000382530:E1884K;ENSP00000382546:E1884K;ENSP00000382500:E1873K;ENSP00000382549:E1865K;ENSP00000266376:E1913K;ENSP00000382515:E1885K;ENSP00000382510:E1865K;ENSP00000341092:E1906K;ENSP00000382537:E1882K;ENSP00000329877:E1900K;ENSP00000382557:E1871K;ENSP00000385724:E1884K;ENSP00000382512:E1865K;ENSP00000382542:E1936K;ENSP00000382526:E1900K;ENSP00000385896:E1936K;ENSP00000382504:E1873K	ENSP00000323129:E1766K	E	+	1	0	CACNA1C	2665182	1.000000	0.71417	0.943000	0.38184	0.802000	0.45316	5.486000	0.66856	0.981000	0.38548	0.449000	0.29647	GAA	G|0.500;A|0.500	0.500	weak		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2794921	G	A	2794921	3	1	23	1	0	0	0	0	1	0	0	0	2540	1059	37	1	6476	1	CACNA1C	12	2794921	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	73784	2794921	131056974	2962	19418										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3782647	3782647	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagttcattcttctcctcAtgggcttcttggagctggga	10	11	5	0	rs36030417	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:3782647A>T	ENST00000252322.1	-	7	1104	c.636T>A	c.(634-636)caT>caA	p.H212Q	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.H212Q|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.H212Q	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		212			H -> Q (in dbSNP:rs36030417).		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCTCCTCATGGGCTTCTT	0.488													A|||	855	0.170727	0.115	0.2363	5008	,	,		20099	0.127		0.1471	False		,,,				2504	0.2689				p.H212Q		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.T636A						PASS	.	A	GLN/HIS,GLN/HIS	550,3856	247.5+/-255.7	36,478,1689	151	143	145		636,636	-8.5	0.2	12	dbSNP_126	145	1227,7373	246.9+/-275.2	90,1047,3163	yes	missense,missense	EFCAB4B	NM_001144958.1,NM_032680.3	24,24	126,1525,4852	TT,TA,AA		14.2674,12.483,13.6629	possibly-damaging,possibly-damaging	212/732,212/396	3782647	1777,11229	2203	4300	6503	SO:0001583	missense	84766	exon7			CTCCTCATGGGCT																												ENST00000252322.1:c.636T>A	12.37:g.3782647A>T	ENSP00000252322:p.His212Gln	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	126	47	0.373016	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	332	0.152014652014652	56	0.11382113821138211	86	0.23756906077348067	83	0.1451048951048951	107	0.14116094986807387	A	11.01	1.511825	0.27036	0.12483	0.142674	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.20738	2.05;2.7;2.68	4.55	-8.51	0.00923	.	0.241821	0.41001	D	0.000976	T	0.00012	0.0000	L	0.61218	1.895	0.43203	P	0.004942000000000002	B;P;D	0.56035	0.366;0.949;0.974	B;P;P	0.49140	0.085;0.578;0.601	T	0.04140	-1.0974	9	0.13470	T	0.59	-14.6484	9.6521	0.39904	0.3381:0.0924:0.5695:0.0	rs36030417;rs61907257	212;212;212	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	Q	212	ENSP00000409382:H212Q;ENSP00000412496:H212Q;ENSP00000252322:H212Q	ENSP00000252322:H212Q	H	-	3	2	EFCAB4B	3652908	0.000000	0.05858	0.217000	0.23759	0.545000	0.35147	-3.808000	0.00361	-2.641000	0.00429	-1.844000	0.00574	CAT	A|0.861;T|0.139	0.139	strong		0.488	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			T	3782647	A	T	3782647	3	4	23	1	0	0	0	0	1	0	0	0	4937	214	8	5	1807	5	EFCAB4B	12	3782647	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	987726	3782647	130069248	2963	19419										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3788145	3788145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaactgggcttcctcatcttCgcccatgtcgcccagatcct	8	16	2	1	rs242018	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:3788145C>T	ENST00000252322.1	-	6	928	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.E154K|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E154K	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		154			E -> K (in dbSNP:rs242018). {ECO:0000269|PubMed:15489334}.		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTCATCTTCGCCCATGTCG	0.532													C|||	1114	0.222444	0.1747	0.33	5008	,	,		20677	0.1319		0.2565	False		,,,				2504	0.2689				p.E154K		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.G460A						PASS	.	C	LYS/GLU,LYS/GLU	825,3581	327.7+/-300.2	91,643,1469	205	165	179		460,460	1.5	0	12	dbSNP_79	179	2370,6230	395.0+/-344.9	303,1764,2233	yes	missense,missense	EFCAB4B	NM_001144958.1,NM_032680.3	56,56	394,2407,3702	TT,TC,CC		27.5581,18.7245,24.5656	benign,benign	154/732,154/396	3788145	3195,9811	2203	4300	6503	SO:0001583	missense	84766	exon6			CATCTTCGCCCAT																												ENST00000252322.1:c.460G>A	12.37:g.3788145C>T	ENSP00000252322:p.Glu154Lys	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	160	70	0.4375	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	488	0.22344322344322345	90	0.18292682926829268	119	0.3287292817679558	81	0.14160839160839161	198	0.2612137203166227	C	6.084	0.383782	0.11524	0.187245	0.275581	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62941	-0.01;2.41;2.39	4.9	1.51	0.23008	.	0.607794	0.17497	N	0.172133	T	0.00012	0.0000	M	0.72894	2.215	0.80722	P	0.0	B;B;B	0.19817	0.039;0.008;0.008	B;B;B	0.08055	0.003;0.003;0.001	T	0.14727	-1.0462	9	0.32370	T	0.25	-0.0552	4.976	0.14140	0.0:0.5477:0.2293:0.223	rs242018;rs3803136;rs17770609;rs52791075;rs56733254;rs242018	154;154;154	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	K	154	ENSP00000409382:E154K;ENSP00000412496:E154K;ENSP00000252322:E154K	ENSP00000252322:E154K	E	-	1	0	EFCAB4B	3658406	0.005000	0.15991	0.000000	0.03702	0.006000	0.05464	1.008000	0.29872	-0.025000	0.13918	0.561000	0.74099	GAA	C|0.763;T|0.237	0.237	strong		0.532	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			T	3788145	C	T	3788145	3	4	23	1	0	0	0	0	1	0	0	0	4937	893	31	1	1987	1	EFCAB4B	12	3788145	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5498	3788145	130063750	2964	19420										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3788222	3788222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggccacctgttcacctGcatcttcctgacttgggtta	10	13	2	1	rs242017	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:3788222G>A	ENST00000252322.1	-	6	851	c.383C>T	c.(382-384)gCa>gTa	p.A128V	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.A128V|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.A128V	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		128			A -> V (in dbSNP:rs242017). {ECO:0000269|PubMed:15489334}.		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGTTCACCTGCATCTTCCTG	0.557													G|||	1135	0.226637	0.1785	0.3372	5008	,	,		20510	0.1319		0.2644	False		,,,				2504	0.272				p.A128V		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.C383T						PASS	.	G	VAL/ALA,VAL/ALA	856,3550	336.3+/-304.3	100,656,1447	154	127	136		383,383	0.9	0	12	dbSNP_79	136	2439,6161	402.8+/-347.6	320,1799,2181	yes	missense,missense	EFCAB4B	NM_001144958.1,NM_032680.3	64,64	420,2455,3628	AA,AG,GG		28.3605,19.4281,25.3345	benign,benign	128/732,128/396	3788222	3295,9711	2203	4300	6503	SO:0001583	missense	84766	exon6			TCACCTGCATCTT																												ENST00000252322.1:c.383C>T	12.37:g.3788222G>A	ENSP00000252322:p.Ala128Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	140	71	0.507143	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	502	0.22985347985347984	93	0.18902439024390244	123	0.3397790055248619	81	0.14160839160839161	205	0.2704485488126649	G	9.608	1.130430	0.21041	0.194281	0.283605	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62941	-0.01;2.43;2.46	4.18	0.878	0.19150	EF-hand-like domain (1);	0.821237	0.11051	N	0.605064	T	0.00012	0.0000	M	0.71581	2.175	0.80722	P	0.0	P;P;B	0.35656	0.514;0.493;0.361	B;B;B	0.33620	0.036;0.167;0.081	T	0.19910	-1.0291	9	0.16420	T	0.52	-0.6969	6.8838	0.24189	0.0:0.1663:0.4941:0.3396	rs242017;rs3803134;rs17697944;rs52823302;rs59003580;rs242017	128;128;128	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	V	128	ENSP00000409382:A128V;ENSP00000412496:A128V;ENSP00000252322:A128V	ENSP00000252322:A128V	A	-	2	0	EFCAB4B	3658483	0.000000	0.05858	0.002000	0.10522	0.682000	0.39822	0.131000	0.15870	0.291000	0.22468	0.561000	0.74099	GCA	G|0.756;N|0.000	.	strong		0.557	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			A	3788222	G	A	3788222	3	1	23	1	0	0	0	0	1	0	0	0	4937	1319	46	2	2064	2	EFCAB4B	12	3788222	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	77	3788222	130063673	2965	19421										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3789452	3789452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatagccattgccatcagCatccagggcatcaaacacat	7	13	2	1	rs17836273	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:3789452C>T	ENST00000252322.1	-	5	760	c.292G>A	c.(292-294)Gct>Act	p.A98T	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.A98T|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.A98T	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		98	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> T (in dbSNP:rs17836273).		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGCCATCAGCATCCAGGGCA	0.507													C|||	778	0.155351	0.1331	0.2262	5008	,	,		21101	0.128		0.1123	False		,,,				2504	0.2076				p.A98T		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.G292A						PASS	.	C	THR/ALA,THR/ALA	589,3817	259.2+/-262.9	48,493,1662	134	108	116		292,292	3.8	1	12	dbSNP_123	116	971,7629	211.4+/-252.0	54,863,3383	yes	missense,missense	EFCAB4B	NM_001144958.1,NM_032680.3	58,58	102,1356,5045	TT,TC,CC		11.2907,13.3681,11.9945	benign,benign	98/732,98/396	3789452	1560,11446	2203	4300	6503	SO:0001583	missense	84766	exon5			CATCAGCATCCAG																												ENST00000252322.1:c.292G>A	12.37:g.3789452C>T	ENSP00000252322:p.Ala98Thr	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	177	89	0.502825	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	313	0.1433150183150183	71	0.1443089430894309	79	0.21823204419889503	81	0.14160839160839161	82	0.10817941952506596	C	11.90	1.776639	0.31411	0.133681	0.112907	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.75704	-0.96;-0.36;-0.96	4.69	3.79	0.43588	EF-hand-like domain (1);	0.248943	0.41097	N	0.000946	T	0.00039	0.0001	L	0.28694	0.88	0.24654	P	0.99350352	B;B;B	0.29378	0.243;0.011;0.1	B;B;B	0.27262	0.078;0.027;0.077	T	0.04946	-1.0916	9	0.13108	T	0.6	-4.6645	10.8966	0.47025	0.0:0.9068:0.0:0.0932	rs17836273;rs60176556;rs17836273	98;98;98	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	T	98	ENSP00000409382:A98T;ENSP00000412496:A98T;ENSP00000252322:A98T	ENSP00000252322:A98T	A	-	1	0	EFCAB4B	3659713	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	0.198000	0.17217	1.194000	0.43101	0.561000	0.74099	GCT	C|0.866;T|0.134	0.134	strong		0.507	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			T	3789452	C	T	3789452	3	4	23	1	0	0	0	0	1	0	0	0	4937	710	25	2	2159	2	EFCAB4B	12	3789452	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1230	3789452	130062443	2966	19422										
EFCAB4B	84766	hgsc.bcm.edu	37	chr12	3806147	3806147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggggtctggagactacccTcccgtcaggggcagccatcg	14	14	2	1	rs200051200|rs9788233	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:3806147T>C	ENST00000252322.1	-	4	487	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.R7G|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R7G	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		7			R -> G (in dbSNP:rs9788233).		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAGACTACCCTCCCGTCAGGG	0.572													T|||	816	0.162939	0.1165	0.2277	5008	,	,		18703	0.1835		0.1143	False		,,,				2504	0.2086				p.R7G		Atlas-SNP	.											EFCAB4B_ENST00000444507,NS,carcinoma,+2,8	EFCAB4B	100	8	0			c.A19G						scavenged	.	T	GLY/ARG,GLY/ARG	488,3918		41,406,1756	20	19	19		19,19	1.9	0	12	dbSNP_119	19	798,7802		51,696,3553	yes	missense,missense	EFCAB4B	NM_001144958.1,NM_032680.3	125,125	92,1102,5309	CC,CT,TT		9.2791,11.0758,9.8877	benign,benign	7/732,7/396	3806147	1286,11720	2203	4300	6503	SO:0001583	missense	84766	exon4			CTACCCTCCCGTC																												ENST00000252322.1:c.19A>G	12.37:g.3806147T>C	ENSP00000252322:p.Arg7Gly	Somatic	49	1	0.0204082		WXS	Illumina HiSeq	Phase_I	34	20	0.588235	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	322	0.14743589743589744	58	0.11788617886178862	78	0.2154696132596685	112	0.1958041958041958	74	0.09762532981530343	T	12.61	1.989014	0.35131	0.110758	0.092791	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62788	-0.0;2.36;2.39	5.56	1.85	0.25348	.	0.486738	0.19351	N	0.116388	T	0.00039	0.0001	M	0.64997	1.995	0.80722	P	0.0	B;B;B	0.19331	0.035;0.034;0.035	B;B;B	0.22601	0.018;0.04;0.018	T	0.06285	-1.0835	9	0.56958	D	0.05	-0.6578	4.089	0.09960	0.0:0.1814:0.1785:0.6401	rs9788233;rs9788233	7;7;7	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	G	7	ENSP00000409382:R7G;ENSP00000412496:R7G;ENSP00000252322:R7G	ENSP00000252322:R7G	R	-	1	2	EFCAB4B	3676408	0.003000	0.15002	0.000000	0.03702	0.012000	0.07955	1.314000	0.33597	0.363000	0.24346	0.519000	0.50382	AGG	T|0.870;C|0.130	0.130	strong		0.572	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			C	3806147	T	C	3806147	3	2	23	1	0	0	0	0	1	0	0	0	4937	1550	54	3	2436	3	EFCAB4B	12	3806147	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	16695	3806147	130045748	2967	19423										
KCNA6	3742	hgsc.bcm.edu	37	chr12	4920767	4920767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctacaccacatcgggcctaTgcagagaaaagaatgctcac	8	13	1	2	rs34642709	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:4920767T>C	ENST00000280684.3	+	1	2426	c.1560T>C	c.(1558-1560)taT>taC	p.Y520Y	KCNA6_ENST00000433855.1_Silent_p.Y520Y|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	520					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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ATCGGGCCTATGCAGAGAAAA	0.577										HNSCC(72;0.22)			T|||	67	0.0133786	0.0015	0.0043	5008	,	,		20418	0.0		0.0189	False		,,,				2504	0.044				p.Y520Y		Atlas-SNP	.											.	KCNA6	122	.	0			c.T1560C						PASS	.	T		7,4399	12.9+/-30.5	0,7,2196	55	59	58		1560	1.4	0.1	12	dbSNP_126	58	154,8446	72.6+/-135.2	2,150,4148	no	coding-synonymous	KCNA6	NM_002235.3		2,157,6344	CC,CT,TT		1.7907,0.1589,1.2379		520/530	4920767	161,12845	2203	4300	6503	SO:0001819	synonymous_variant	3742	exon1			GGCCTATGCAGAG	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1560T>C	12.37:g.4920767T>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	66	32	0.484848	NM_002235		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																			T|0.987;C|0.013	0.013	strong		0.577	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		C	4920767	T	C	4920767	2	2	23	1	0	0	0	0	0	0	0	1	8007	1471	51	2		2	KCNA6	12	4920767	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1114620	4920767	128931128	2968	19424										
TAPBPL	55080	hgsc.bcm.edu	37	chr12	6562285	6562285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggacgtggtcctagactgCttcctggcgaaggacggtgc	16	10	0	1	rs2041384	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6562285C>T	ENST00000266556.7	+	2	282	c.117C>T	c.(115-117)tgC>tgT	p.C39C	TAPBPL_ENST00000544021.1_Intron|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	39					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCTAGACTGCTTCCTGGCGA	0.652													C|||	1142	0.228035	0.1074	0.1628	5008	,	,		17387	0.3224		0.2932	False		,,,				2504	0.273				p.C39C		Atlas-SNP	.											.	TAPBPL	21	.	0			c.C117T						PASS	.	C		534,3868		40,454,1707	40	35	37		117	3.2	1	12	dbSNP_94	37	2464,6132		361,1742,2195	no	coding-synonymous	TAPBPL	NM_018009.4		401,2196,3902	TT,TC,CC		28.6645,12.1308,23.0651		39/469	6562285	2998,10000	2201	4298	6499	SO:0001819	synonymous_variant	55080	exon2			AGACTGCTTCCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.117C>T	12.37:g.6562285C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	101	53	0.524752	NM_018009	Q9NWB8	Silent	SNP	ENST00000266556.7	37	CCDS8546.1																																																																																			C|0.782;G|0.000;T|0.218	0.218	strong		0.652	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		T	6562285	C	T	6562285	2	4	23	1	0	0	0	0	0	0	0	1	15550	805	28	2		2	TAPBPL	12	6562285	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1641518	6562285	127289610	2969	19425										
TAPBPL	55080	hgsc.bcm.edu	37	chr12	6562823	6562823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggtcaccaagaatgaggCgctctggcacccgacgctga	13	13	2	3	rs2041387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6562823C>T	ENST00000266556.7	+	3	671	c.506C>T	c.(505-507)gCg>gTg	p.A169V	TAPBPL_ENST00000544021.1_Missense_Mutation_p.A92V|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	169			A -> V (in dbSNP:rs2041387). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						AAGAATGAGGCGCTCTGGCAC	0.572													C|||	1293	0.258187	0.1846	0.1744	5008	,	,		18472	0.3224		0.3042	False		,,,				2504	0.3037				p.A169V		Atlas-SNP	.											.	TAPBPL	21	.	0			c.C506T						PASS	.	C	VAL/ALA	825,3581	324.8+/-298.8	84,657,1462	37	35	36		506	4.6	0	12	dbSNP_94	36	2622,5978	419.4+/-353.1	407,1808,2085	yes	missense	TAPBPL	NM_018009.4	64	491,2465,3547	TT,TC,CC		30.4884,18.7245,26.5032	benign	169/469	6562823	3447,9559	2203	4300	6503	SO:0001583	missense	55080	exon3			ATGAGGCGCTCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.506C>T	12.37:g.6562823C>T	ENSP00000266556:p.Ala169Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	78	42	0.538462	NM_018009	Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	562	0.2573260073260073	88	0.17886178861788618	63	0.17403314917127072	188	0.32867132867132864	223	0.2941952506596306	C	9.385	1.073965	0.20147	0.187245	0.304884	ENSG00000139192	ENST00000544021;ENST00000266556	T;T	0.48201	0.82;3.02	4.56	4.56	0.56223	.	0.481446	0.23317	N	0.049484	T	0.00012	0.0000	L	0.56769	1.78	0.58432	P	2.9999999999752447E-6	B	0.10296	0.003	B	0.08055	0.003	T	0.25012	-1.0144	9	0.21014	T	0.42	-5.8199	12.8579	0.57897	0.0:1.0:0.0:0.0	rs2041387;rs3168617;rs16932609;rs17196801;rs17845451;rs17858324;rs57407101;rs2041387	169	Q9BX59	TPSNR_HUMAN	V	92;169	ENSP00000445341:A92V;ENSP00000266556:A169V	ENSP00000266556:A169V	A	+	2	0	TAPBPL	6433084	0.179000	0.23135	0.022000	0.16811	0.002000	0.02628	1.069000	0.30641	2.097000	0.63578	0.609000	0.83330	GCG	C|0.744;N|0.000	.	strong		0.572	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		T	6562823	C	T	6562823	3	4	23	1	0	0	0	0	1	0	0	0	15550	768	27	1	516	1	TAPBPL	12	6562823	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	538	6562823	127289072	2970	19426										
TAPBPL	55080	hgsc.bcm.edu	37	chr12	6562836	6562836	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgaggcgctctggcacccGacgctgaacttgccactgag	12	13	1	3	rs2041388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6562836G>A	ENST00000266556.7	+	3	684	c.519G>A	c.(517-519)ccG>ccA	p.P173P	TAPBPL_ENST00000544021.1_Silent_p.P96P|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	173					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCTGGCACCCGACGCTGAACT	0.567													G|||	1016	0.202875	0.0136	0.1599	5008	,	,		18787	0.3224		0.2932	False		,,,				2504	0.273				p.P173P		Atlas-SNP	.											.	TAPBPL	21	.	0			c.G519A						PASS	.	G		249,4157	142.7+/-177.9	8,233,1962	31	30	31		519	-0.2	0	12	dbSNP_94	31	2499,6101	401.6+/-347.2	364,1771,2165	no	coding-synonymous	TAPBPL	NM_018009.4		372,2004,4127	AA,AG,GG		29.0581,5.6514,21.1287		173/469	6562836	2748,10258	2203	4300	6503	SO:0001819	synonymous_variant	55080	exon3			GCACCCGACGCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.519G>A	12.37:g.6562836G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	61	30	0.491803	NM_018009	Q9NWB8	Silent	SNP	ENST00000266556.7	37	CCDS8546.1																																																																																			G|0.800;A|0.200	0.200	strong		0.567	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		A	6562836	G	A	6562836	2	1	23	1	0	0	0	0	0	0	0	1	15550	1045	37	1		1	TAPBPL	12	6562836	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13	6562836	127289059	2971	19427										
VAMP1	6843	hgsc.bcm.edu	37	chr12	6575044	6575044	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caatacttcctctttagcttGgcagcactgctctcaaattg	6	12	2	0	rs2072375	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6575044G>T	ENST00000396308.3	-	3	397	c.252C>A	c.(250-252)gcC>gcA	p.A84A	VAMP1_ENST00000400911.3_Silent_p.A84A|VAMP1_ENST00000544432.1_5'UTR|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000361716.3_Silent_p.A84A|VAMP1_ENST00000535180.1_Silent_p.A84A	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	84	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	TCTTTAGCTTGGCAGCACTGC	0.512											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1364	0.272364	0.2095	0.1859	5008	,	,		18976	0.3284		0.3241	False		,,,				2504	0.3078				p.A84A		Atlas-SNP	.											.	VAMP1	6	.	0			c.C252A						PASS	.	T	,,	886,3520	742.2+/-411.3	89,708,1406	134	114	121		252,252,252	1.7	1	12	dbSNP_96	121	2759,5841	679.6+/-403.6	450,1859,1991	no	coding-synonymous,coding-synonymous,coding-synonymous	VAMP1	NM_014231.3,NM_016830.2,NM_199245.1	,,	539,2567,3397	TT,TG,GG		32.0814,20.1089,28.0255	,,	84/119,84/117,84/118	6575044	3645,9361	2203	4300	6503	SO:0001819	synonymous_variant	6843	exon3			TAGCTTGGCAGCA		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.252C>A	12.37:g.6575044G>T		Somatic	140	0	0	635	WXS	Illumina HiSeq	Phase_I	124	69	0.556452	NM_014231	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Silent	SNP	ENST00000396308.3	37	CCDS41740.1																																																																																			G|0.728;T|0.272	0.272	strong		0.512	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1			T	6575044	G	T	6575044	2	4	23	1	0	0	0	0	0	0	0	1	17109	1335	47	4		4	VAMP1	12	6575044	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12208	6575044	127276851	2972	19428										
NCAPD2	9918	hgsc.bcm.edu	37	chr12	6635274	6635274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagcaatttagacacactgGtgagcatagggctggatgag	14	6	0	3	rs10849482	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6635274G>A	ENST00000315579.5	+	19	3188	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V752M|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	797			V -> M (in dbSNP:rs10849482).		mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGACACACTGGTGAGCATAGG	0.517													G|||	540	0.107827	0.0242	0.1354	5008	,	,		20967	0.0089		0.2107	False		,,,				2504	0.1973				p.V797M		Atlas-SNP	.											.	NCAPD2	99	.	0			c.G2389A						PASS	.	G	MET/VAL	249,4157	143.8+/-178.8	9,231,1963	87	83	85		2389	5.6	1	12	dbSNP_120	85	2030,6570	354.8+/-329.6	236,1558,2506	yes	missense	NCAPD2	NM_014865.3	21	245,1789,4469	AA,AG,GG		23.6047,5.6514,17.5227	possibly-damaging	797/1402	6635274	2279,10727	2203	4300	6503	SO:0001583	missense	9918	exon19			ACACTGGTGAGCA	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2389G>A	12.37:g.6635274G>A	ENSP00000325017:p.Val797Met	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	46	0.474227	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	250	0.11446886446886446	20	0.04065040650406504	64	0.17679558011049723	5	0.008741258741258742	161	0.21240105540897097	G	20.6	4.010233	0.75046	0.056514	0.236047	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.56444	0.46;0.46;0.46	5.62	5.62	0.85841	Armadillo-type fold (1);	0.106954	0.64402	D	0.000007	T	0.00039	0.0001	L	0.55743	1.74	0.30658	P	0.754738	P;P;P	0.51653	0.927;0.801;0.947	P;B;P	0.51135	0.66;0.387;0.536	T	0.01988	-1.1234	9	0.46703	T	0.11	-26.7934	13.8923	0.63747	0.0728:0.0:0.9272:0.0	rs10849482;rs17725920;rs60278952;rs10849482	752;758;797	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	M	797;669;752;669	ENSP00000325017:V797M;ENSP00000371895:V669M;ENSP00000444417:V752M	ENSP00000325017:V797M	V	+	1	0	NCAPD2	6505535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.367000	0.44213	2.653000	0.90120	0.655000	0.94253	GTG	G|0.854;A|0.146	0.146	strong		0.517	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6635274	G	A	6635274	3	1	23	1	0	0	0	0	1	0	0	0	10205	1261	44	2	2459	2	NCAPD2	12	6635274	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60230	6635274	127216621	2973	19429										
CHD4	1108	hgsc.bcm.edu	37	chr12	6709059	6709059	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttccccaccatccttgcaGacccgacagaattccatatg	6	15	0	2	rs11539542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6709059G>A	ENST00000357008.2	-	10	1525	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	CHD4_ENST00000544484.1_Silent_p.V451V|CHD4_ENST00000309577.6_Silent_p.V454V|CHD4_ENST00000544040.1_Silent_p.V447V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	454					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CATCCTTGCAGACCCGACAGA	0.542													g|||	491	0.0980431	0.1278	0.0634	5008	,	,		18827	0.004		0.1322	False		,,,				2504	0.1442				p.V454V	Colon(32;586 792 4568 16848 45314)	Atlas-SNP	.											.	CHD4	539	.	0			c.C1362T						PASS	.			574,3832	255.8+/-260.9	39,496,1668	211	201	204		1362	1.3	1	12	dbSNP_120	204	1396,7204	271.9+/-289.8	122,1152,3026	no	coding-synonymous	CHD4	NM_001273.2		161,1648,4694	AA,AG,GG		16.2326,13.0277,15.1469		454/1913	6709059	1970,11036	2203	4300	6503	SO:0001819	synonymous_variant	1108	exon10			CTTGCAGACCCGA	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1362C>T	12.37:g.6709059G>A		Somatic	224	1	0.00446429		WXS	Illumina HiSeq	Phase_I	198	91	0.459596	NM_001273	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																			G|0.872;A|0.128	0.128	strong		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6709059	G	A	6709059	2	1	23	1	0	0	0	0	0	0	0	1	3327	929	33	2		2	CHD4	12	6709059	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	73785	6709059	127142836	2974	19430										
GPR162	27239	hgsc.bcm.edu	37	chr12	6935977	6935977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctgagtacctgggacaaAgacacaggttggaggacgag	14	9	0	2	rs11612427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6935977A>G	ENST00000311268.3	+	5	2162	c.1375A>G	c.(1375-1377)Aga>Gga	p.R459G	GPR162_ENST00000382315.3_Missense_Mutation_p.R155G|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.R175G|LEPREL2_ENST00000396725.2_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	459			R -> G (in dbSNP:rs11612427). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCTGGGACAAAGACACAGGTT	0.632													A|||	527	0.105232	0.0151	0.2104	5008	,	,		-128	0.002		0.3012	False		,,,				2504	0.0573				p.R459G		Atlas-SNP	.											.	GPR162	55	.	0			c.A1375G						PASS	.	A	GLY/ARG,GLY/ARG	280,4126	152.2+/-185.9	10,260,1933	48	58	55		523,1375	3.1	0.1	12	dbSNP_120	55	2698,5902	427.2+/-355.5	436,1826,2038	no	missense,missense	GPR162	NM_014449.1,NM_019858.1	125,125	446,2086,3971	GG,GA,AA		31.3721,6.355,22.8971	benign,benign	175/305,459/589	6935977	2978,10028	2203	4300	6503	SO:0001583	missense	27239	exon5			GGACAAAGACACA	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1375A>G	12.37:g.6935977A>G	ENSP00000311528:p.Arg459Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_019858	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	319	0.14606227106227107	6	0.012195121951219513	84	0.23204419889502761	0	0.0	229	0.3021108179419525	A	11.06	1.529094	0.27387	0.06355	0.313721	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.44881	3.07;0.91;0.92	4.24	3.13	0.36017	.	.	.	.	.	T	0.00012	0.0000	L	0.43923	1.385	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19943	-1.0290	8	0.72032	D	0.01	.	10.9424	0.47281	0.6818:0.3182:0.0:0.0	rs11612427;rs11612427	175;459	Q16538-2;Q16538	.;GP162_HUMAN	G	459;175;155	ENSP00000311528:R459G;ENSP00000399670:R175G;ENSP00000371752:R155G	ENSP00000311528:R459G	R	+	1	2	GPR162	6806238	0.074000	0.21230	0.100000	0.21137	0.758000	0.43043	1.813000	0.38962	1.006000	0.39211	0.459000	0.35465	AGA	A|0.801;G|0.199	0.199	strong		0.632	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		G	6935977	A	G	6935977	3	3	23	1	0	0	0	0	1	0	0	0	6666	64	3	3	1408	3	GPR162	12	6935977	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	226918	6935977	126915918	2975	19431										
GPR162	27239	hgsc.bcm.edu	37	chr12	6935995	6935995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagacacaggttggaggacGaggaggacgaggaagaggct	18	5	0	2	rs138514784|rs138578985|rs58069762	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:6935995G>A	ENST00000311268.3	+	5	2180	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	GPR162_ENST00000382315.3_Missense_Mutation_p.E161K|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.E181K|LEPREL2_ENST00000396725.2_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	465						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GTTGGAGGACGAGGAGGACGA	0.652																																					p.E465K		Atlas-SNP	.											GPR162,bladder,carcinoma,0,1	GPR162	55	1	0			c.G1393A						scavenged	.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	50	62	58		541,1393	3.8	0.9	12	dbSNP_134	58	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GPR162	NM_014449.1,NM_019858.1	56,56	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	181/305,465/589	6935995	4,13002	2203	4300	6503	SO:0001583	missense	27239	exon5			GAGGACGAGGAGG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1393G>A	12.37:g.6935995G>A	ENSP00000311528:p.Glu465Lys	Somatic	76	1	0.0131579		WXS	Illumina HiSeq	Phase_I	97	57	0.587629	NM_019858	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	7.227	0.598598	0.13939	2.27E-4	3.49E-4	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.43688	3.1;0.94;0.94	4.7	3.79	0.43588	.	.	.	.	.	T	0.21145	0.0509	N	0.08118	0	0.22389	N	0.999148	B;B	0.27679	0.133;0.185	B;B	0.18561	0.022;0.013	T	0.10776	-1.0615	9	0.36615	T	0.2	.	7.9273	0.29883	0.0:0.268:0.5194:0.2126	.	181;465	Q16538-2;Q16538	.;GP162_HUMAN	K	465;181;161	ENSP00000311528:E465K;ENSP00000399670:E181K;ENSP00000371752:E161K	ENSP00000311528:E465K	E	+	1	0	GPR162	6806256	0.985000	0.35326	0.882000	0.34594	0.215000	0.24574	2.459000	0.45023	1.299000	0.44798	0.491000	0.48974	GAG	G|1.000;A|0.000	0.000	weak		0.652	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		A	6935995	G	A	6935995	3	1	23	1	0	0	0	0	1	0	0	0	6666	1059	37	1	1426	1	GPR162	12	6935995	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18	6935995	126915900	2976	19432										
ATN1	1822	hgsc.bcm.edu	37	chr12	7047143	7047143	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcgcgaggccgagcagcgCgcgcgcgaagaaaaggagcg	19	12	0	1	rs7969685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7047143C>A	ENST00000356654.4	+	6	2667	c.2430C>A	c.(2428-2430)cgC>cgA	p.R810R	ATN1_ENST00000396684.2_Silent_p.R810R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	810	Ala/Arg-rich.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCGAGCAGCGCGCGCGCGAAG	0.692											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	814	0.16254	0.1059	0.2046	5008	,	,		-128	0.0109		0.3787	False		,,,				2504	0.1431				p.R810R		Atlas-SNP	.											.	ATN1	95	.	0			c.C2430A						PASS	.	C	,	560,3648		48,464,1592	8	9	9		2430,2430	3	1	12	dbSNP_116	9	2744,5534		492,1760,1887	no	coding-synonymous,coding-synonymous	ATN1	NM_001007026.1,NM_001940.3	,	540,2224,3479	AA,AC,CC		33.1481,13.308,26.4616	,	810/1191,810/1191	7047143	3304,9182	2104	4139	6243	SO:0001819	synonymous_variant	1822	exon6			GCAGCGCGCGCGC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2430C>A	12.37:g.7047143C>A		Somatic	36	0	0	638	WXS	Illumina HiSeq	Phase_I	29	28	0.965517	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			C|0.802;A|0.198	0.198	strong		0.692	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7047143	C	A	7047143	2	1	23	1	0	0	0	0	0	0	0	1	1111	755	27	4		4	ATN1	12	7047143	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111148	7047143	126804752	2977	19433										
PTPN6	5777	hgsc.bcm.edu	37	chr12	7067226	7067226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacgcagggcccatcatcGtgcactgcaggtgaggatga	13	12	2	2	rs62621988		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7067226G>A	ENST00000318974.9	+	11	1595	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	PTPN6_ENST00000447931.2_Missense_Mutation_p.V412M|PTPN6_ENST00000399448.1_Missense_Mutation_p.V453M|PTPN6_ENST00000456013.1_Missense_Mutation_p.V451M	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	451	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCCCATCATCGTGCACTGCAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				p.V453M		Atlas-SNP	.											.	PTPN6	42	.	0			c.G1357A						PASS	.	G	MET/VAL,MET/VAL,MET/VAL	2,4098		0,2,2048	36	38	38		1351,1357,1351	5.1	1	12	dbSNP_129	38	12,8396		0,12,4192	yes	missense,missense,missense	PTPN6	NM_002831.5,NM_080548.4,NM_080549.3	21,21,21	0,14,6240	AA,AG,GG		0.1427,0.0488,0.1119	probably-damaging,probably-damaging,probably-damaging	451/596,453/598,451/625	7067226	14,12494	2050	4204	6254	SO:0001583	missense	5777	exon11			ATCATCGTGCACT		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1351G>A	12.37:g.7067226G>A	ENSP00000326010:p.Val451Met	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	22	11	0.5	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.88	3.908893	0.72868	4.88E-4	0.001427	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.08	5.08	0.68730	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.140227	0.48767	D	0.000171	D	0.97480	0.9175	H	0.98646	4.29	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.999	D	0.99410	1.0930	10	0.87932	D	0	.	18.4653	0.90752	0.0:0.0:1.0:0.0	rs62621988	439;412;451;451;453	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	M	453;412;451;451	ENSP00000382376:V453M;ENSP00000415979:V412M;ENSP00000326010:V451M;ENSP00000391592:V451M	ENSP00000326010:V451M	V	+	1	0	PTPN6	6937487	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.603000	0.61105	2.346000	0.79739	0.561000	0.74099	GTG	G|0.999;A|0.001	0.001	strong		0.532	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		A	7067226	G	A	7067226	3	1	23	1	0	0	0	0	1	0	0	0	12792	1145	40	1	1411	1	PTPN6	12	7067226	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20083	7067226	126784669	2978	19434										
RBP5	9746	hgsc.bcm.edu	37	chr12	7281317	7281317	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttagggcttgcaggtagtCctccatgttcttctgcgaga	11	10	2	1	rs10963	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7281317C>T	ENST00000266546.6	+	0	0				RP11-273B20.1_ENST00000544657.1_RNA|RP11-273B20.1_ENST00000538062.1_RNA|RBP5_ENST00000266560.3_Missense_Mutation_p.D19N|RBP5_ENST00000542370.1_Missense_Mutation_p.D19N	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCAGGTAGTCCTCCATGTTC	0.552													C|||	1014	0.202476	0.2095	0.1686	5008	,	,		-128	0.3938		0.1103	False		,,,				2504	0.1145				p.D19N		Atlas-SNP	.											.	RBP5	20	.	0			c.G55A						PASS	.	C	ASN/ASP	969,3437	337.6+/-304.9	109,751,1343	142	114	123		55	1.3	1	12	dbSNP_52	123	864,7736	182.2+/-230.7	47,770,3483	yes	missense	RBP5	NM_031491.2	23	156,1521,4826	TT,TC,CC		10.0465,21.9927,14.0935	benign	19/136	7281317	1833,11173	2203	4300	6503	SO:0001631	upstream_gene_variant	83758	exon1			GGTAGTCCTCCAT	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7281317C>T	Exception_encountered	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	207	101	0.487923	NM_031491	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	451	0.2065018315018315	89	0.18089430894308944	52	0.143646408839779	224	0.3916083916083916	86	0.11345646437994723	C	10.81	1.456633	0.26161	0.219927	0.100465	ENSG00000139194	ENST00000266560;ENST00000542370	T;T	0.23552	1.9;1.9	3.25	1.29	0.21616	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.562793	0.18253	N	0.146895	T	0.00012	0.0000	L	0.41236	1.265	0.46376	P	9.829999999999561E-4	B	0.09022	0.002	B	0.14023	0.01	T	0.45352	-0.9267	9	0.33141	T	0.24	.	5.8178	0.18506	0.0:0.4674:0.3927:0.1398	rs10963;rs1139108;rs1801503;rs3203160;rs11540815;rs17342618;rs17350246;rs56609724;rs59039984;rs10963	19	P82980	RET5_HUMAN	N	19	ENSP00000266560:D19N;ENSP00000438083:D19N	ENSP00000266560:D19N	D	-	1	0	RBP5	7172584	0.151000	0.22747	0.954000	0.39281	0.939000	0.58152	0.199000	0.17237	0.340000	0.23745	0.491000	0.48974	GAC	C|0.823;T|0.177	0.177	strong		0.552	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7281317	C	T	7281317	1	4	23	0	1	0	0	0	0	0	0	0	13159	855	30	2		2	RBP5	12	7281317	5'Flank	SNP	C	TCGA-GR-7353-01A-11D-2210-10	214091	7281317	126570578	2979	19435										
ACSM4	341392	hgsc.bcm.edu	37	chr12	7463241	7463241	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagtgaggaggtggccccAgcggtggagtccattgtatt	16	9	0	1	rs7968241	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7463241A>T	ENST00000399422.4	+	3	567	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	173					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						AGGTGGCCCCAGCGGTGGAGT	0.537													A|||	1618	0.323083	0.1997	0.3156	5008	,	,		-128	0.3502		0.5487	False		,,,				2504	0.2352				p.P173P		Atlas-SNP	.											.	ACSM4	98	.	0			c.A519T						PASS	.	A		994,2972		154,686,1143	48	48	48		519	-4.9	0	12	dbSNP_116	48	4313,4013		1119,2075,969	no	coding-synonymous	ACSM4	NM_001080454.1		1273,2761,2112	TT,TA,AA		48.1984,25.063,43.1744		173/581	7463241	5307,6985	1983	4163	6146	SO:0001819	synonymous_variant	341392	exon3			GGCCCCAGCGGTG		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.519A>T	12.37:g.7463241A>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	97	96	0.989691	NM_001080454	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																			A|0.570;T|0.430	0.430	strong		0.537	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7463241	A	T	7463241	2	4	23	1	0	0	0	0	0	0	0	1	186	175	7	5		5	ACSM4	12	7463241	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	181924	7463241	126388654	2980	19436										
CD163L1	283316	hgsc.bcm.edu	37	chr12	7585971	7585971	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actctagttagactcttaccAtaacagttcacaccaacatc	3	13	3	1	rs10845159	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7585971A>G	ENST00000313599.3	-	3	501	c.444T>C	c.(442-444)taT>taC	p.Y148Y	CD163L1_ENST00000396630.1_Splice_Site_p.Y148Y|CD163L1_ENST00000416109.2_Silent_p.Y148Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	148	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACTCTTACCATAACAGTTCA	0.438													A|||	1437	0.286941	0.0242	0.3458	5008	,	,		-128	0.3413		0.5457	False		,,,				2504	0.2781				p.Y148Y		Atlas-SNP	.											.	CD163L1	238	.	0			c.T444C						PASS	.	A		502,3904	230.7+/-244.8	42,418,1743	102	94	97		444	-4.4	0	12	dbSNP_120	97	4725,3875	608.2+/-395.4	1311,2103,886	yes	coding-synonymous-near-splice	CD163L1	NM_174941.4		1353,2521,2629	GG,GA,AA		45.0581,11.3936,40.1891		148/1454	7585971	5227,7779	2203	4300	6503	SO:0001630	splice_region_variant	283316	exon3			CTTACCATAACAG	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.445+1T>C	12.37:g.7585971A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	195	101	0.517949	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																			A|0.625;G|0.375	0.375	strong		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	Silent	G	7585971	A	G	7585971	5	3	23	1	0	0	0	0	0	0	1	0	2968	231	8	2	3985	2	CD163L1	12	7585971	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	122730	7585971	126265924	2981	19437										
APOBEC1	339	hgsc.bcm.edu	37	chr12	7803646	7803646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcagtgcagctccagtgcGtacaacatcatccacagagg	10	12	1	1	rs10431309	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7803646G>A	ENST00000229304.4	-	4	554	c.534C>T	c.(532-534)taC>taT	p.Y178Y		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	178					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y178Y(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCTCCAGTGCGTACAACATCA	0.433													G|||	1212	0.242013	0.1483	0.1916	5008	,	,		-128	0.2312		0.2594	False		,,,				2504	0.3978				p.Y178Y	Pancreas(135;929 1826 4531 10527 41012)	Atlas-SNP	.											APOBEC1,caecum,carcinoma,0,2	APOBEC1	43	2	1	Substitution - coding silent(1)	stomach(1)	c.C534T						PASS	.	G		629,3777	270.7+/-269.8	51,527,1625	154	139	144		534	-3.2	0.5	12	dbSNP_119	144	2082,6518	360.6+/-332.0	236,1610,2454	no	coding-synonymous	APOBEC1	NM_001644.3		287,2137,4079	AA,AG,GG		24.2093,14.276,20.8442		178/237	7803646	2711,10295	2203	4300	6503	SO:0001819	synonymous_variant	339	exon4			CAGTGCGTACAAC	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.534C>T	12.37:g.7803646G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	139	72	0.517986	NM_001644	Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	CCDS8579.1																																																																																			G|0.779;A|0.221	0.221	strong		0.433	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		A	7803646	G	A	7803646	2	1	23	1	0	0	0	0	0	0	0	1	787	1140	40	1		1	APOBEC1	12	7803646	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	217675	7803646	126048249	2982	19438										
GDF3	9573	hgsc.bcm.edu	37	chr12	7842932	7842932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaggctgaaaattcacccCtgagtctctatcttctttga	6	11	5	3	rs12819884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7842932C>T	ENST00000329913.3	-	2	684	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	213			G -> R (in dbSNP:rs12819884). {ECO:0000269|PubMed:15489334}.		endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.G213R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAATTCACCCCTGAGTCTCTA	0.493													C|||	1128	0.22524	0.1762	0.1671	5008	,	,		-128	0.1488		0.326	False		,,,				2504	0.3078				p.G213R		Atlas-SNP	.											GDF3,NS,adenoma,0,2	GDF3	68	2	1	Substitution - Missense(1)	stomach(1)	c.G637A						scavenged	.	C	ARG/GLY	813,3593	322.9+/-297.8	84,645,1474	80	81	81		637	1.6	0	12	dbSNP_121	81	2656,5944	427.0+/-355.5	411,1834,2055	yes	missense	GDF3	NM_020634.1	125	495,2479,3529	TT,TC,CC		30.8837,18.4521,26.6723	benign	213/365	7842932	3469,9537	2203	4300	6503	SO:0001583	missense	9573	exon2			TCACCCCTGAGTC	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.637G>A	12.37:g.7842932C>T	ENSP00000331745:p.Gly213Arg	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	177	2	0.0112994	NM_020634	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	541	0.24771062271062272	98	0.1991869918699187	75	0.20718232044198895	111	0.19405594405594406	257	0.3390501319261214	C	9.738	1.164021	0.21538	0.184521	0.308837	ENSG00000184344	ENST00000329913	T	0.64803	-0.12	4.61	1.64	0.23874	Transforming growth factor-beta, N-terminal (1);	1.057280	0.07259	N	0.867224	T	0.00012	0.0000	N	0.20685	0.6	0.80722	P	0.0	B	0.06786	0.001	B	0.12156	0.007	T	0.28459	-1.0043	9	0.13853	T	0.58	.	5.3922	0.16249	0.0:0.6309:0.1708:0.1983	rs12819884;rs17845938;rs17858918;rs52806074;rs12819884	213	Q9NR23	GDF3_HUMAN	R	213	ENSP00000331745:G213R	ENSP00000331745:G213R	G	-	1	0	GDF3	7734199	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	-0.091000	0.11146	0.471000	0.27319	-0.291000	0.09656	GGG	C|0.752;T|0.248	0.248	strong		0.493	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7842932	C	T	7842932	3	4	23	1	0	0	0	0	1	0	0	0	6315	681	24	2	461	2	GDF3	12	7842932	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39286	7842932	126008963	2983	19439										
SLC2A14	144195	hgsc.bcm.edu	37	chr12	7966958	7966958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggctcgatgctgttcatcCccatgacgccgtccttccca	8	17	1	1	rs10845981	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7966958C>T	ENST00000543909.1	-	16	2276	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	SLC2A14_ENST00000539924.1_Missense_Mutation_p.G521E|SLC2A14_ENST00000431042.2_Missense_Mutation_p.G483E|SLC2A14_ENST00000535295.1_Missense_Mutation_p.G397E|SLC2A14_ENST00000542546.1_Missense_Mutation_p.G397E|SLC2A14_ENST00000396589.2_Missense_Mutation_p.G506E|SLC2A14_ENST00000542505.1_Missense_Mutation_p.G147E|SLC2A14_ENST00000340749.5_Missense_Mutation_p.G483E			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	506			G -> E (in dbSNP:rs10845981).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCTGTTCATCCCCATGACGCC	0.572													T|||	1279	0.255391	0.0961	0.2421	5008	,	,		-128	0.4216		0.2674	False		,,,				2504	0.2965				p.G506E		Atlas-SNP	.											SLC2A14,NS,carcinoma,0,1	SLC2A14	78	1	0			c.G1517A						PASS	.	T	GLU/GLY	488,3918		58,372,1773	246	160	189		1517	2.5	0.5	12	dbSNP_120	189	2341,6259		511,1319,2470	no	missense	SLC2A14	NM_153449.2	98	569,1691,4243	TT,TC,CC		27.2209,11.0758,21.7515	benign	506/521	7966958	2829,10177	2203	4300	6503	SO:0001583	missense	144195	exon12			TTCATCCCCATGA	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1517G>A	12.37:g.7966958C>T	ENSP00000440480:p.Gly506Glu	Somatic	365	2	0.00547945		WXS	Illumina HiSeq	Phase_I	179	138	0.77095	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	514	0.23534798534798534	33	0.06707317073170732	66	0.18232044198895028	226	0.3951048951048951	189	0.24934036939313983	T	0.029	-1.344877	0.01266	0.110758	0.272209	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;D;T;T;D;D;D;T	0.83163	-1.46;-1.5;-1.46;-1.22;-1.5;-1.69;-1.69;-1.49	3.71	2.54	0.30619	.	0.649429	0.15839	N	0.242123	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.13629	-1.0502	9	0.02654	T	1	.	6.9472	0.24526	0.0:0.2098:0.0:0.7902	rs10845981	521;397;483;506	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	E	483;506;483;147;506;397;397;521	ENSP00000340450:G483E;ENSP00000440480:G506E;ENSP00000407287:G483E;ENSP00000438484:G147E;ENSP00000379834:G506E;ENSP00000440492:G397E;ENSP00000443903:G397E;ENSP00000445929:G521E	ENSP00000340450:G483E	G	-	2	0	SLC2A14	7858225	1.000000	0.71417	0.537000	0.28052	0.004000	0.04260	2.648000	0.46647	0.019000	0.15079	-1.777000	0.00654	GGG	C|0.760;T|0.240	0.240	strong		0.572	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7966958	C	T	7966958	3	4	23	1	0	0	0	0	1	0	0	0	14543	623	22	2	49	2	SLC2A14	12	7966958	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	124026	7966958	125884937	2984	19440										
SLC2A14	144195	hgsc.bcm.edu	37	chr12	7966975	7966975	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccccatgacgccgtccttCccagatctatctgcaccgtg	7	17	2	2	rs10845982		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7966975C>T	ENST00000543909.1	-	16	2259	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G	SLC2A14_ENST00000539924.1_Silent_p.G515G|SLC2A14_ENST00000431042.2_Silent_p.G477G|SLC2A14_ENST00000535295.1_Silent_p.G391G|SLC2A14_ENST00000542546.1_Silent_p.G391G|SLC2A14_ENST00000396589.2_Silent_p.G500G|SLC2A14_ENST00000542505.1_Silent_p.G141G|SLC2A14_ENST00000340749.5_Silent_p.G477G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	500					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGCCGTCCTTCCCAGATCTAT	0.557																																					p.G500G		Atlas-SNP	.											SLC2A14,NS,carcinoma,-2,1	SLC2A14	78	1	0			c.G1500A						scavenged	.						218	142	167					12																	7966975		2203	4299	6502	SO:0001819	synonymous_variant	144195	exon12			GTCCTTCCCAGAT	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1500G>A	12.37:g.7966975C>T		Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	157	33	0.210191	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																			T|1.000;|0.000	1.000	weak		0.557	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7966975	C	T	7966975	2	4	23	1	0	0	0	0	0	0	0	1	14543	842	30	2		2	SLC2A14	12	7966975	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17	7966975	125884920	2985	19441										
SLC2A14	144195	hgsc.bcm.edu	37	chr12	7967076	7967076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaagaaggtaaaggccaAgaaggtaatgaggaagccgg	15	4	0	4	rs10845983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:7967076A>G	ENST00000543909.1	-	16	2158	c.1399T>C	c.(1399-1401)Ttg>Ctg	p.L467L	SLC2A14_ENST00000539924.1_Silent_p.L482L|SLC2A14_ENST00000431042.2_Silent_p.L444L|SLC2A14_ENST00000535295.1_Silent_p.L358L|SLC2A14_ENST00000542546.1_Silent_p.L358L|SLC2A14_ENST00000396589.2_Silent_p.L467L|SLC2A14_ENST00000542505.1_Silent_p.L108L|SLC2A14_ENST00000340749.5_Silent_p.L444L			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	467					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTAAAGGCCAAGAAGGTAATG	0.453													A|||	1049	0.209465	0.0204	0.3674	5008	,	,		-128	0.1181		0.338	False		,,,				2504	0.3149				p.L467L		Atlas-SNP	.											SLC2A14,NS,carcinoma,+2,1	SLC2A14	78	1	0			c.T1399C						PASS	.	A		333,4073	173.0+/-202.9	18,297,1888	66	66	66		1399	2.4	0.2	12	dbSNP_120	66	2898,5702	449.7+/-362.2	459,1980,1861	no	coding-synonymous	SLC2A14	NM_153449.2		477,2277,3749	GG,GA,AA		33.6977,7.5579,24.8424		467/521	7967076	3231,9775	2203	4300	6503	SO:0001819	synonymous_variant	144195	exon12			AGGCCAAGAAGGT	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1399T>C	12.37:g.7967076A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	124	65	0.524194	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																			A|0.760;G|0.240	0.240	strong		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		G	7967076	A	G	7967076	2	3	23	1	0	0	0	0	0	0	0	1	14543	69	3	3		3	SLC2A14	12	7967076	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	101	7967076	125884819	2986	19442										
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329652	8329652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgattcgggagaagattgcActcacagttccacaataact	8	9	1	3	rs10743251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:8329652A>G	ENST00000359286.4	+	5	465	c.376A>G	c.(376-378)Act>Gct	p.T126A		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	126			T -> A (in dbSNP:rs10743251).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T126A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AGAAGATTGCACTCACAGTTC	0.403																																					p.T126A		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.A376G						scavenged	.						99	99	99					12																	8329652		2202	4291	6493	SO:0001583	missense	440077	exon5			GATTGCACTCACA	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.376A>G	12.37:g.8329652A>G	ENSP00000352233:p.Thr126Ala	Somatic	392	4	0.0102041		WXS	Illumina HiSeq	Phase_I	298	105	0.352349	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	1046	0.47893772893772896	208	0.42276422764227645	167	0.4613259668508287	276	0.4825174825174825	395	0.521108179419525	.	7.485	0.649440	0.14516	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.07216	3.21;3.21	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.20807	0.61	0.80722	P	0.0	B	0.28850	0.225	B	0.17979	0.02	T	0.39121	-0.9629	8	0.28530	T	0.3	.	4.2628	0.10749	0.6373:0.3627:0.0:0.0	rs10743251;rs57777260	126	Q6ZN79	Z705A_HUMAN	A	126	ENSP00000379816:T126A;ENSP00000352233:T126A	ENSP00000352233:T126A	T	+	1	0	ZNF705A	8220919	0.067000	0.21026	0.047000	0.18901	0.094000	0.18550	2.005000	0.40864	0.891000	0.36235	0.329000	0.21502	ACT	A|0.527;G|0.473	0.473	strong		0.403	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		G	8329652	A	G	8329652	3	3	23	1	0	0	0	0	1	0	0	0	18105	159	6	2	394	2	ZNF705A	12	8329652	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	362576	8329652	125522243	2987	19443										
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329700	8329700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttaactcacagtggaaagAaaccctatgtcagcaaacag	8	9	2	1	rs10743253	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:8329700A>C	ENST00000359286.4	+	5	513	c.424A>C	c.(424-426)Aaa>Caa	p.K142Q		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	142			K -> Q (in dbSNP:rs10743253).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K142Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		CAGTGGAAAGAAACCCTATGT	0.373													a|||	2152	0.429712	0.2882	0.4683	5008	,	,		-128	0.5198		0.5616	False		,,,				2504	0.365				p.K142Q		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.A424C						scavenged	.	A	GLN/LYS	1390,3016		224,942,1037	125	128	127		424	1.4	0.1	12	dbSNP_120	127	4659,3941		1319,2021,960	no	missense	ZNF705A	NM_001004328.2	53	1543,2963,1997	CC,CA,AA		45.8256,31.5479,46.5093	probably-damaging	142/301	8329700	6049,6957	2203	4300	6503	SO:0001583	missense	440077	exon5			GGAAAGAAACCCT	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.424A>C	12.37:g.8329700A>C	ENSP00000352233:p.Lys142Gln	Somatic	374	4	0.0106952		WXS	Illumina HiSeq	Phase_I	329	155	0.471125	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	1021	0.4674908424908425	136	0.2764227642276423	170	0.4696132596685083	300	0.5244755244755245	415	0.5474934036939314	.	16.40	3.111296	0.56398	0.315479	0.541744	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.02280	4.36;4.36	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.88450	2.955	0.44309	P	0.0028200000000000447	D	0.57899	0.981	P	0.59221	0.854	T	0.39860	-0.9593	8	0.87932	D	0	.	6.8118	0.23809	1.0:0.0:0.0:0.0	rs10743253;rs17801815	142	Q6ZN79	Z705A_HUMAN	Q	142	ENSP00000379816:K142Q;ENSP00000352233:K142Q	ENSP00000352233:K142Q	K	+	1	0	ZNF705A	8220967	0.311000	0.24536	0.078000	0.20375	0.253000	0.25986	3.275000	0.51639	0.891000	0.36235	0.329000	0.21502	AAA	A|0.528;C|0.471	0.471	strong		0.373	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		C	8329700	A	C	8329700	3	2	23	1	0	0	0	0	1	0	0	0	18105	247	9	5	442	5	ZNF705A	12	8329700	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	48	8329700	125522195	2988	19444										
ZNF705A	440077	hgsc.bcm.edu	37	chr12	8329833	8329833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctatactaattgctttcGccttagacggcacaagatga	9	10	0	3	rs11043758	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:8329833G>A	ENST00000359286.4	+	5	646	c.557G>A	c.(556-558)cGc>cAc	p.R186H	FAM66C_ENST00000454799.2_RNA|FAM66C_ENST00000456135.2_RNA|FAM66C_ENST00000544214.1_RNA	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	186			R -> H (in dbSNP:rs11043758).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R186H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AATTGCTTTCGCCTTAGACGG	0.393																																					p.R186H		Atlas-SNP	.											ZNF705A,NS,carcinoma,0,1	ZNF705A	32	1	1	Substitution - Missense(1)	stomach(1)	c.G557A						scavenged	.						85	86	86					12																	8329833		2198	4290	6488	SO:0001583	missense	440077	exon5			GCTTTCGCCTTAG	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.557G>A	12.37:g.8329833G>A	ENSP00000352233:p.Arg186His	Somatic	316	2	0.00632911		WXS	Illumina HiSeq	Phase_I	232	100	0.431034	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	992	0.4542124542124542	174	0.35365853658536583	165	0.4558011049723757	275	0.4807692307692308	378	0.49868073878627966	.	0.017	-1.494887	0.01009	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.03920	3.76;3.76	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.01624	-0.795	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	7	.	.	.	.	2.8848	0.05658	0.3359:0.0:0.3342:0.3299	rs11043758	186	Q6ZN79	Z705A_HUMAN	H	186	ENSP00000379816:R186H;ENSP00000352233:R186H	.	R	+	2	0	ZNF705A	8221100	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.401000	0.01048	-2.388000	0.00588	-0.724000	0.03597	CGC	G|0.506;A|0.494	0.494	strong		0.393	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		A	8329833	G	A	8329833	3	1	23	1	0	0	0	0	1	0	0	0	18105	1087	38	1	575	1	ZNF705A	12	8329833	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133	8329833	125522062	2989	19445										
CLEC4D	338339	hgsc.bcm.edu	37	chr12	8667897	8667897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagttttcatcttacttctcAgtgtctgttttattgcaagt	6	7	4	0	rs4304840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:8667897A>G	ENST00000299665.2	+	2	287	c.94A>G	c.(94-96)Agt>Ggt	p.S32G		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	32			S -> G (in dbSNP:rs4304840). {ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTTACTTCTCAGTGTCTGTTT	0.378													A|||	1504	0.300319	0.5923	0.1844	5008	,	,		-128	0.122		0.2475	False		,,,				2504	0.226				p.S32G		Atlas-SNP	.											.	CLEC4D	46	.	0			c.A94G						PASS	.	A	GLY/SER	2420,1986	618.2+/-393.1	668,1084,451	232	197	209		94	-0.3	0.3	12	dbSNP_111	209	1987,6613	348.8+/-327.2	249,1489,2562	yes	missense	CLEC4D	NM_080387.4	56	917,2573,3013	GG,GA,AA		23.1047,45.0749,33.8844	benign	32/216	8667897	4407,8599	2203	4300	6503	SO:0001583	missense	338339	exon2			CTTCTCAGTGTCT	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.94A>G	12.37:g.8667897A>G	ENSP00000299665:p.Ser32Gly	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	286	120	0.41958	NM_080387	Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	621	0.28434065934065933	279	0.5670731707317073	66	0.18232044198895028	88	0.15384615384615385	188	0.24802110817941952	a	0.126	-1.119811	0.01785	0.549251	0.231047	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.05513	3.43;3.7	3.36	-0.299	0.12808	.	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.52501	P	4.199999999998649E-5	B	0.10296	0.003	B	0.04013	0.001	T	0.29518	-1.0009	8	0.36615	T	0.2	.	7.1227	0.25454	0.7959:0.0:0.2041:0.0	rs4304840;rs60537162;rs4304840	32	Q8WXI8	CLC4D_HUMAN	G	32	ENSP00000371496:S32G;ENSP00000299665:S32G	ENSP00000299665:S32G	S	+	1	0	CLEC4D	8559164	0.031000	0.19500	0.321000	0.25320	0.003000	0.03518	-0.178000	0.09782	-0.089000	0.12484	-1.335000	0.01260	AGT	A|0.678;G|0.322	0.322	strong		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		G	8667897	A	G	8667897	3	3	23	1	0	0	0	0	1	0	0	0	3514	188	7	3	100	3	CLEC4D	12	8667897	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	338064	8667897	125183998	2990	19446										
KLRG1	10219	hgsc.bcm.edu	37	chr12	9161648	9161648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggctggaggtgggaagaTggatcacctctaaacttctc	12	9	4	1	rs3026251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:9161648T>C	ENST00000266551.4	+	4	450	c.435T>C	c.(433-435)gaT>gaC	p.D145D	KLRG1_ENST00000538029.1_3'UTR|KLRG1_ENST00000356986.3_Silent_p.D145D	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GGTGGGAAGATGGATCACCTC	0.443													C|||	1269	0.253395	0.0545	0.2997	5008	,	,		-128	0.379		0.2634	False		,,,				2504	0.3497				p.D145D		Atlas-SNP	.											.	KLRG1	16	.	0			c.T435C						PASS	.	C		337,4069	795.6+/-415.3	13,311,1879	89	86	87		435	-0.4	1	12	dbSNP_102	87	2572,6028	689.7+/-404.4	382,1808,2110	no	coding-synonymous	KLRG1	NM_005810.3		395,2119,3989	CC,CT,TT		29.907,7.6487,22.3666		145/190	9161648	2909,10097	2203	4300	6503	SO:0001819	synonymous_variant	10219	exon4			GGAAGATGGATCA	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.435T>C	12.37:g.9161648T>C		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	200	74	0.37	NM_005810	B7ZAM2|O43198|O75613	Silent	SNP	ENST00000266551.4	37																																																																																				T|0.754;C|0.246	0.246	strong		0.443	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		C	9161648	T	C	9161648	2	2	23	1	0	0	0	0	0	0	0	1	8421	1461	51	2		2	KLRG1	12	9161648	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	493751	9161648	124690247	2991	19447										
PZP	5858	hgsc.bcm.edu	37	chr12	9305473	9305473	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctttgtgtccatcgcaagtTtggggcacagtctgcacttt	11	10	1	0	rs10771357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:9305473T>C	ENST00000261336.2	-	31	4096	c.4068A>G	c.(4066-4068)caA>caG	p.Q1356Q	PZP_ENST00000381997.2_Silent_p.Q1142Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1356					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CATCGCAAGTTTGGGGCACAG	0.438													T|||	3281	0.655152	0.5318	0.5937	5008	,	,		-128	0.8899		0.6322	False		,,,				2504	0.6472				p.Q1356Q	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.A4068G						PASS	.	T		2445,1961	620.5+/-393.6	678,1089,436	139	127	131		4068	-1.4	0.9	12	dbSNP_120	131	5379,3221	651.5+/-400.8	1674,2031,595	yes	coding-synonymous	PZP	NM_002864.2		2352,3120,1031	CC,CT,TT		37.4535,44.5075,39.8431		1356/1483	9305473	7824,5182	2203	4300	6503	SO:0001819	synonymous_variant	5858	exon31			GCAAGTTTGGGGC	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4068A>G	12.37:g.9305473T>C		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	163	162	0.993865	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																			T|0.362;C|0.638	0.638	strong		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		C	9305473	T	C	9305473	2	2	23	1	0	0	0	0	0	0	0	1	12869	1838	64	2		2	PZP	12	9305473	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	143825	9305473	124546422	2992	19448										
PZP	5858	hgsc.bcm.edu	37	chr12	9315209	9315209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacctgaggcacaggtcatAgaactgaaagtcttttcttg	9	8	3	3	rs10771381	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:9315209A>G	ENST00000261336.2	-	22	2800	c.2772T>C	c.(2770-2772)tcT>tcC	p.S924S	PZP_ENST00000381997.2_Silent_p.S710S|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	924					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACAGGTCATAGAACTGAAAG	0.388													G|||	2036	0.40655	0.3933	0.366	5008	,	,		-128	0.4226		0.3966	False		,,,				2504	0.4468				p.S924S	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											.	PZP	422	.	0			c.T2772C						PASS	.	G		1870,2536	630.9+/-395.5	405,1060,738	151	134	140		2772	-4.4	0	12	dbSNP_120	140	3698,4902	620.1+/-397.0	802,2094,1404	no	coding-synonymous	PZP	NM_002864.2		1207,3154,2142	GG,GA,AA		43.0,42.4421,42.811		924/1483	9315209	5568,7438	2203	4300	6503	SO:0001819	synonymous_variant	5858	exon22			GGTCATAGAACTG	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2772T>C	12.37:g.9315209A>G		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	85	84	0.988235	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																			A|0.580;G|0.420	0.420	strong		0.388	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		G	9315209	A	G	9315209	2	3	23	1	0	0	0	0	0	0	0	1	12869	407	15	3		3	PZP	12	9315209	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9736	9315209	124536686	2993	19449										
C12orf59	120939	hgsc.bcm.edu	37	chr12	10332198	10332198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtccgagttcatgtcgtgGcggcctcagccctgctgtat	13	12	2	0	rs140071448		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10332198G>T	ENST00000381923.2	+	2	429	c.25G>T	c.(25-27)Gcg>Tcg	p.A9S	TMEM52B_ENST00000298530.3_Missense_Mutation_p.W3C|TMEM52B_ENST00000536952.1_Missense_Mutation_p.A9S			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	9						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCATGTCGTGGCGGCCTCAGC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17529	0.0		0.001	False		,,,				2504	0.0				p.W3C		Atlas-SNP	.											.	.	.	.	0			c.G9T						PASS	.	G	CYS/TRP	0,4406		0,0,2203	183	173	176		9	-5.3	0	12	dbSNP_134	176	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C12orf59	NM_153022.2	215	0,3,6500	TT,TG,GG		0.0349,0.0,0.0231	benign	3/164	10332198	3,13003	2203	4300	6503	SO:0001583	missense	120939	exon1			GTCGTGGCGGCCT	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.25G>T	12.37:g.10332198G>T	ENSP00000371348:p.Ala9Ser	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	118	54	0.457627	NM_153022	Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	8.571|8.571	0.879998|0.879998	0.17467|0.17467	0.0|0.0	3.49E-4|3.49E-4	ENSG00000165685|ENSG00000165685	ENST00000381923;ENST00000543484;ENST00000536952|ENST00000298530	.|.	.|.	.|.	5.3|5.3	-5.3|-5.3	0.02738|0.02738	.|.	1.353820|.	0.04491|.	N|.	0.379462|.	T|T	0.25754|0.25754	0.0627|0.0627	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.29366|0.29366	-1.0014|-1.0014	8|7	0.38643|0.87932	T|D	0.18|0	1.6513|1.6513	4.7738|4.7738	0.13169|0.13169	0.3682:0.0:0.3801:0.2518|0.3682:0.0:0.3801:0.2518	.|.	9|3	Q4KMG9|Q4KMG9-2	CL059_HUMAN|.	S|C	9|3	.|.	ENSP00000371348:A9S|ENSP00000298530:W3C	A|W	+|+	1|3	0|0	C12orf59|C12orf59	10223465|10223465	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.493000|-0.493000	0.06459|0.06459	-1.165000|-1.165000	0.02786|0.02786	-1.197000|-1.197000	0.01672|0.01672	GCG|TGG	G|1.000;T|0.000	0.000	strong		0.478	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		T	10332198	G	T	10332198	3	4	23	1	0	0	0	0	1	0	0	0	1702	1212	42	4	11	4	C12orf59	12	10332198	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1016989	10332198	123519697	2994	19450										
C12orf59	120939	hgsc.bcm.edu	37	chr12	10339178	10339178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgacagcactctccagagCactatcacatgtgagtacac	7	14	2	2	rs4764308	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10339178C>T	ENST00000381923.2	+	5	701	c.297C>T	c.(295-297)agC>agT	p.S99S	TMEM52B_ENST00000298530.3_Silent_p.S79S|TMEM52B_ENST00000536952.1_Silent_p.S99S			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	99						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTCTCCAGAGCACTATCACAT	0.507													C|||	67	0.0133786	0.0023	0.013	5008	,	,		14362	0.0		0.0477	False		,,,				2504	0.0072				p.S79S		Atlas-SNP	.											.	.	.	.	0			c.C237T						PASS	.	C		44,4362	47.5+/-82.1	1,42,2160	82	76	78		237	2.4	0.9	12	dbSNP_111	78	392,8208	125.8+/-184.4	15,362,3923	no	coding-synonymous	C12orf59	NM_153022.2		16,404,6083	TT,TC,CC		4.5581,0.9986,3.3523		79/164	10339178	436,12570	2203	4300	6503	SO:0001819	synonymous_variant	120939	exon3			CCAGAGCACTATC	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.297C>T	12.37:g.10339178C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	92	33	0.358696	NM_153022	Q96NA7	Silent	SNP	ENST00000381923.2	37																																																																																				C|0.970;T|0.030	0.030	strong		0.507	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		T	10339178	C	T	10339178	2	4	23	1	0	0	0	0	0	0	0	1	1702	709	25	2		2	C12orf59	12	10339178	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6980	10339178	123512717	2995	19451										
KLRC4	8302	hgsc.bcm.edu	37	chr12	10560957	10560957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttctattcagggaaaaaTtgttctgctccagtactcca	6	10	4	0	rs2617170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10560957T>C	ENST00000309384.1	-	3	492	c.311A>G	c.(310-312)aAt>aGt	p.N104S	KLRC4-KLRK1_ENST00000539300.1_Silent_p.Q95Q	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	104			N -> S (in allele NKG2-F*02; dbSNP:rs2617170). {ECO:0000269|PubMed:11751968, ECO:0000269|PubMed:9394807, ECO:0000269|PubMed:9598306, ECO:0000269|PubMed:9683661}.		cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CAGGGAAAAATTGTTCTGCTC	0.284													T|||	2788	0.556709	0.4327	0.6671	5008	,	,		13575	0.5496		0.663	False		,,,				2504	0.544				p.N104S		Atlas-SNP	.											KLRC4,caecum,carcinoma,0,1	KLRC4	23	1	0			c.A311G						PASS	.	T	,SER/ASN	2102,2298	566.5+/-381.9	516,1070,614	71	68	69		,311	2.9	0	12	dbSNP_100	69	5820,2756	669.6+/-402.7	1999,1822,467	yes	utr-5,missense	KLRC4,KLRC4-KLRK1	NM_001199805.1,NM_013431.2	,46	2515,2892,1081	CC,CT,TT		32.1362,47.7727,38.9488	,benign	,104/159	10560957	7922,5054	2200	4288	6488	SO:0001583	missense	8302	exon3			GAAAAATTGTTCT	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"Killer cell lectin-like receptors"	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.311A>G	12.37:g.10560957T>C	ENSP00000310216:p.Asn104Ser	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	194	192	0.989691	NM_013431	O60851	Missense_Mutation	SNP	ENST00000309384.1	37	CCDS8624.1	1308	0.5989010989010989	231	0.4695121951219512	239	0.6602209944751382	339	0.5926573426573427	499	0.658311345646438	T	9.629	1.135782	0.21123	0.477727	0.678638	ENSG00000183542	ENST00000309384	T	0.10005	2.92	2.89	2.89	0.33648	C-type lectin fold (1);	0.475829	0.17871	N	0.159163	T	0.00012	0.0000	M	0.62723	1.935	0.80722	P	0.0	B	0.26445	0.149	B	0.25759	0.063	T	0.21109	-1.0255	9	0.19590	T	0.45	.	7.5748	0.27928	0.0:0.0:0.0:1.0	rs2617170;rs56530830;rs61074071;rs2617170	104	O43908	NKG2F_HUMAN	S	104	ENSP00000310216:N104S	ENSP00000310216:N104S	N	-	2	0	KLRC4	10452224	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	1.074000	0.30703	1.567000	0.49668	0.477000	0.44152	AAT	T|0.395;C|0.605	0.605	strong		0.284	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		C	10560957	T	C	10560957	3	2	23	1	0	0	0	0	1	0	0	0	8418	1493	52	2	173	2	KLRC4	12	10560957	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	221779	10560957	123290938	2996	19452										
KLRC3	3823	hgsc.bcm.edu	37	chr12	10573094	10573094	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttaggtttcctttgctgcCactttgggtcctgggccaga	11	11	0	1	rs2682491	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10573094C>G	ENST00000396439.2	-	1	100	c.56G>C	c.(55-57)tGg>tCg	p.W19S	KLRC3_ENST00000381904.2_Missense_Mutation_p.W19S|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.W19S	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	19			W -> P (in allele NKG2-E*01 and allele NKG2-E*03; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:10201920, ECO:0000269|PubMed:8276468, ECO:0000269|PubMed:9683661}.|W -> R (in allele NKG2-E*02; dbSNP:rs2682490). {ECO:0000269|PubMed:11751968, ECO:0000269|Ref.5}.		cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCTTTGCTGCCACTTTGGGTC	0.433													c|||	2221	0.44349	0.2012	0.5576	5008	,	,		9481	0.5159		0.5785	False		,,,				2504	0.4765				p.W19S		Atlas-SNP	.											.	KLRC3	25	.	0			c.G56C						PASS	.						82	77	78					12																	10573094		2202	4284	6486	SO:0001583	missense	3823	exon1			TGCTGCCACTTTG	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.56G>C	12.37:g.10573094C>G	ENSP00000379716:p.Trp19Ser	Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	211	140	0.663507	NM_007333	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	1006	0.4606227106227106	102	0.2073170731707317	191	0.5276243093922652	303	0.5297202797202797	410	0.5408970976253298	c	4.749	0.139191	0.09083	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.04275	3.66;3.66;3.66	2.55	-0.201	0.13212	.	0.475912	0.19666	N	0.108869	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.34129	-0.9841	9	0.59425	D	0.04	.	4.5619	0.12165	0.0:0.4578:0.0:0.5422	rs2682491	19;19	Q07444-2;Q07444	.;NKG2E_HUMAN	S	19	ENSP00000379716:W19S;ENSP00000371329:W19S;ENSP00000371328:W19S	ENSP00000371328:W19S	W	-	2	0	KLRC3	10464361	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.111000	0.31159	-0.060000	0.13132	0.585000	0.79938	TGG	C|0.500;G|0.500	0.500	weak		0.433	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		G	10573094	C	G	10573094	3	3	23	1	0	0	0	0	1	0	0	0	8417	595	21	4	790	4	KLRC3	12	10573094	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12137	10573094	123278801	2997	19453										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588530	10588530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttaggtttcctttgctgcCgctttgggtcctgggccaga	12	11	0	1	rs75545535		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10588530C>G	ENST00000539033.1	-	1	70	c.56G>C	c.(55-57)cGg>cCg	p.R19P	KLRC2_ENST00000381901.1_Missense_Mutation_p.R19P|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.R19P																							CCTTTGCTGCCGCTTTGGGTC	0.433																																					p.R19P		Atlas-SNP	.											KLRC2,NS,carcinoma,0,1	KLRC2	29	1	0			c.G56C						PASS	.						256	255	255					12																	10588530		2203	4300	6503	SO:0001583	missense	3822	exon1			TGCTGCCGCTTTG																												ENST00000539033.1:c.56G>C	12.37:g.10588530C>G	ENSP00000437563:p.Arg19Pro	Somatic	513	2	0.00389864		WXS	Illumina HiSeq	Phase_I	564	231	0.409574	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		557	0.25503663003663	67	0.13617886178861788	117	0.32320441988950277	145	0.2534965034965035	228	0.3007915567282322	C	11.56	1.674672	0.29693	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05996	3.36;3.36;3.36	2.57	-0.0579	0.13799	.	0.475912	0.19666	N	0.108869	T	0.00012	0.0000	L	0.61387	1.9	0.09310	N	1	P;P;D	0.76494	0.932;0.921;0.999	P;P;D	0.70935	0.796;0.88;0.971	T	0.48364	-0.9042	10	0.72032	D	0.01	.	4.9087	0.13811	0.0:0.5158:0.0:0.4842	.	5;19;19	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	P	19	ENSP00000437563:R19P;ENSP00000371327:R19P;ENSP00000371326:R19P	ENSP00000371326:R19P	R	-	2	0	KLRC2;RP11-277P12.6	10479797	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.155000	0.10115	-0.169000	0.10834	0.184000	0.17185	CGG	C|0.745;G|0.255	0.255	strong		0.433	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			G	10588530	C	G	10588530	3	3	23	1	0	0	0	0	1	0	0	0	8416	652	23	4	663	4	KLRC2	12	10588530	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15436	10588530	123263365	2998	19454										
STYK1	55359	hgsc.bcm.edu	37	chr12	10783729	10783729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatgggcccacagctaccActgcaaatctgctccagaac	8	14	1	2	rs2290717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:10783729A>G	ENST00000075503.3	-	5	886	c.366T>C	c.(364-366)agT>agC	p.S122S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACAGCTACCACTGCAAATCT	0.507										HNSCC(73;0.22)			A|||	1268	0.253195	0.1097	0.2378	5008	,	,		15618	0.2063		0.3787	False		,,,				2504	0.3773				p.S122S		Atlas-SNP	.											.	STYK1	55	.	0			c.T366C						PASS	.	A		701,3705	294.7+/-283.3	52,597,1554	77	74	75		366	-1.7	0	12	dbSNP_100	75	3696,4904	527.5+/-381.2	799,2098,1403	no	coding-synonymous	STYK1	NM_018423.2		851,2695,2957	GG,GA,AA		42.9767,15.9101,33.8075		122/423	10783729	4397,8609	2203	4300	6503	SO:0001819	synonymous_variant	55359	exon5			GCTACCACTGCAA	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.366T>C	12.37:g.10783729A>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	115	111	0.965217	NM_018423	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	CCDS8629.1																																																																																			A|0.701;G|0.299	0.299	strong		0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		G	10783729	A	G	10783729	2	3	23	1	0	0	0	0	0	0	0	1	15358	156	6	2		2	STYK1	12	10783729	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	195199	10783729	123068166	2999	19455										
TAS2R46	259292	hgsc.bcm.edu	37	chr12	11213994	11213994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggcttctctcctttcacCcagtacctcacatgccacaa	5	16	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:11213994C>T	ENST00000533467.1	-	1	899	c.900G>A	c.(898-900)tgG>tgA	p.W300*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	300					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CTCCTTTCACCCAGTACCTCA	0.393																																					p.W300X		Atlas-SNP	.											TAS2R46,lower_third,carcinoma,0,1	TAS2R46	43	1	0			c.G900A						scavenged	.						172	171	172					12																	11213994		2003	4225	6228	SO:0001587	stop_gained	259292	exon1			TTTCACCCAGTAC	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.900G>A	12.37:g.11213994C>T	ENSP00000436450:p.Trp300*	Somatic	247	3	0.0121457		WXS	Illumina HiSeq	Phase_I	286	4	0.013986	NM_176887	P59548|Q645X6	Nonsense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232408	0.22626	.	.	ENSG00000226761	ENST00000533467	.	.	.	2.54	-3.09	0.05331	.	.	.	.	.	.	.	.	.	.	.	0.22888	N	0.998607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0346	0.14428	0.4813:0.3992:0.0:0.1195	.	.	.	.	X	300	.	ENSP00000436450:W300X	W	-	3	0	TAS2R46	11105261	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-2.223000	0.01214	-0.363000	0.08101	0.194000	0.17425	TGG	.	.	none		0.393	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		T	11213994	C	T	11213994	4	4	23	1	0	0	0	0	0	1	0	0	15579	624	22	2	33	2	TAS2R46	12	11213994	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	430265	11213994	122637901	3000	19456										
TAS2R46	259292	hgsc.bcm.edu	37	chr12	11214360	11214360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtttgctaggatggttacCgttgtatttgaaaggtacat	11	4	0	1	rs73260771	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:11214360C>T	ENST00000533467.1	-	1	533	c.534G>A	c.(532-534)acG>acA	p.T178T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	178					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGATGGTTACCGTTGTATTTG	0.373													.|||	621	0.124002	0.1029	0.2248	5008	,	,		21835	0.0		0.2773	False		,,,				2504	0.0511				p.T178T		Atlas-SNP	.											.	TAS2R46	43	.	0			c.G534A						PASS	.	C		593,3809	239.9+/-250.9	50,493,1658	174	177	176		534	-5.1	0	12	dbSNP_130	176	2238,6358	370.8+/-336.0	307,1624,2367	no	coding-synonymous	TAS2R46	NM_176887.2		357,2117,4025	TT,TC,CC		26.0354,13.4711,21.7803		178/310	11214360	2831,10167	2201	4298	6499	SO:0001819	synonymous_variant	259292	exon1			GGTTACCGTTGTA	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.534G>A	12.37:g.11214360C>T		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	255	116	0.454902	NM_176887	P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	CCDS53748.1																																																																																			C|0.833;T|0.167	0.167	strong		0.373	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		T	11214360	C	T	11214360	2	4	23	1	0	0	0	0	0	0	0	1	15579	639	23	1		1	TAS2R46	12	11214360	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	366	11214360	122637535	3001	19457										
PRB3	5544	hgsc.bcm.edu	37	chr12	11420773	11420773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccttctggctttcccggaCgaggcgggggaccttgggac	16	12	1	0	rs200940772		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:11420773C>T	ENST00000279573.7	-	3	545	c.410G>A	c.(409-411)cGt>cAt	p.R137H	PRB3_ENST00000381842.3_Missense_Mutation_p.R137H|PRB3_ENST00000538488.1_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	137	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> H (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGCGGGGG	0.642																																					p.R137H		Atlas-SNP	.											PRB3,NS,carcinoma,0,2	PRB3	84	2	0			c.G410A						scavenged	.						26	28	27					12																	11420773		1477	3379	4856	SO:0001583	missense	5544	exon3			CCCGGACGAGGCG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.410G>A	12.37:g.11420773C>T	ENSP00000279573:p.Arg137His	Somatic	116	6	0.0517241		WXS	Illumina HiSeq	Phase_I	108	7	0.0648148	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	0.011	-1.697568	0.00725	.	.	ENSG00000197870	ENST00000381842	T	0.04917	3.53	0.707	-1.41	0.08941	.	21.670500	0.01603	N	0.022149	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38650	-0.9651	9	0.41790	T	0.15	.	4.061	0.09839	0.0:0.1851:0.2048:0.6101	.	137	Q04118	PRB3_HUMAN	H	137	ENSP00000371264:R137H	ENSP00000279573:R137H	R	-	2	0	PRB3	11312040	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.782000	0.04643	-2.300000	0.00658	-1.404000	0.01136	CGT	C|0.998;T|0.002	0.002	weak		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11420773	C	T	11420773	3	4	23	1	0	0	0	0	1	0	0	0	12444	536	19	1	527	1	PRB3	12	11420773	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	206413	11420773	122431122	3002	19458										
PRB3	5544	hgsc.bcm.edu	37	chr12	11421004	11421004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttgcctccttgtgggggtCgtccttctggctttcctgga	14	11	1	0	rs71455364		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:11421004C>T	ENST00000279573.7	-	3	314	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRB3_ENST00000381842.3_Missense_Mutation_p.R60Q|PRB3_ENST00000538488.1_Missense_Mutation_p.R60Q|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	60	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> P (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTGTGGGGGTCGTCCTTCTGG	0.627																																					p.R60Q		Atlas-SNP	.											.	PRB3	84	.	0			c.G179A						PASS	.						160	173	168					12																	11421004		2198	4296	6494	SO:0001583	missense	5544	exon3			GGGGGTCGTCCTT			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.179G>A	12.37:g.11421004C>T	ENSP00000279573:p.Arg60Gln	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	73	27	0.369863	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	3.985	-0.005638	0.07773	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04119	3.7;3.7	0.763	-1.53	0.08611	.	0.242690	0.19335	U	0.116811	T	0.02610	0.0079	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.13470	T	0.59	.	5.5053	0.16850	0.0:0.3072:0.4664:0.2265	.	60	Q04118	PRB3_HUMAN	Q	60	ENSP00000371264:R60Q;ENSP00000442626:R60Q	ENSP00000279573:R60Q	R	-	2	0	PRB3	11312271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.005000	0.00315	-4.132000	0.00071	-2.937000	0.00087	CGA	C|0.500;G|0.500	.	alt		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11421004	C	T	11421004	3	4	23	1	0	0	0	0	1	0	0	0	12444	884	31	1	758	1	PRB3	12	11421004	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	231	11421004	122430891	3003	19459										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506288	11506288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	19	6	0	1	rs140825288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:11506288T>C	ENST00000500254.2	-	4	387	c.350A>G	c.(349-351)aAa>aGa	p.K117R	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.K117R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.612													t|||	39	0.00778754	0.0106	0.0086	5008	,	,		16399	0.0079		0.0099	False		,,,				2504	0.001				p.K117R		Atlas-SNP	.											PRB1,NS,carcinoma,0,2	PRB1	33	2	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.A350G						scavenged	.						92	112	105					12																	11506288		2098	4245	6343	SO:0001583	missense	5542	exon4			TGAGGTTTGTTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.350A>G	12.37:g.11506288T>C	ENSP00000420826:p.Lys117Arg	Somatic	173	4	0.0231214		WXS	Illumina HiSeq	Phase_I	452	15	0.0331858	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.431560	0.01108	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.04119	3.7;3.7	1.29	-1.39	0.08997	.	.	.	.	.	T	0.03871	0.0109	L	0.39147	1.195	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.44544	-0.9321	8	.	.	.	.	5.2744	0.15641	0.0:0.2701:0.0:0.7299	.	257;117	Q86YA1;G3V1M9	.;.	R	117	ENSP00000420826:K117R;ENSP00000442127:K117R	.	K	-	2	0	PRB1	11397555	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.188000	0.17018	-0.320000	0.08640	0.113000	0.15668	AAA	.	.	weak		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506288	T	C	11506288	3	2	23	1	0	0	0	0	1	0	0	0	12442	1841	64	2	250	2	PRB1	12	11506288	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	85284	11506288	122345607	3004	19460										
PTPRO	5800	hgsc.bcm.edu	37	chr12	15661564	15661564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcagcacgtgagtgtccacGttttaagctcaaccactgcc	9	14	1	1	rs71459181	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:15661564G>A	ENST00000281171.4	+	7	1657	c.1327G>A	c.(1327-1329)Gtt>Att	p.V443I	PTPRO_ENST00000348962.2_Missense_Mutation_p.V443I|PTPRO_ENST00000543886.1_Missense_Mutation_p.V443I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	443	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAGTGTCCACGTTTTAAGCTC	0.502													G|||	18	0.00359425	0.0008	0.0072	5008	,	,		18994	0.0		0.0089	False		,,,				2504	0.0031				p.V443I		Atlas-SNP	.											.	PTPRO	148	.	0			c.G1327A						PASS	.	G	ILE/VAL,ILE/VAL	14,4392	22.3+/-47.3	0,14,2189	100	93	95		1327,1327	4.6	0.2	12	dbSNP_130	95	121,8479	62.8+/-124.8	2,117,4181	yes	missense,missense	PTPRO	NM_002848.3,NM_030667.2	29,29	2,131,6370	AA,AG,GG		1.407,0.3177,1.038	benign,benign	443/1189,443/1217	15661564	135,12871	2203	4300	6503	SO:0001583	missense	5800	exon7			GTCCACGTTTTAA	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1327G>A	12.37:g.15661564G>A	ENSP00000281171:p.Val443Ile	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	198	109	0.550505	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	10	0.004578754578754579	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	G	14.57	2.576090	0.45902	0.003177	0.01407	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.57752	0.38;0.38;0.38	5.44	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000284	T	0.20941	0.0504	N	0.12182	0.205	0.80722	D	1	P;P;B	0.40398	0.669;0.716;0.233	B;B;B	0.28385	0.053;0.089;0.04	T	0.07751	-1.0756	10	0.28530	T	0.3	.	12.3796	0.55299	0.0767:0.0:0.9233:0.0	.	443;443;443	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	443	ENSP00000281171:V443I;ENSP00000444173:V443I;ENSP00000343434:V443I	ENSP00000281171:V443I	V	+	1	0	PTPRO	15552831	0.869000	0.29996	0.175000	0.22980	0.976000	0.68499	1.352000	0.34033	1.537000	0.49254	0.655000	0.94253	GTT	G|0.991;A|0.009	0.009	strong		0.502	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15661564	G	A	15661564	3	1	23	1	0	0	0	0	1	0	0	0	12809	1145	40	1	1353	1	PTPRO	12	15661564	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4155276	15661564	118190331	3005	19461										
PTPRO	5800	hgsc.bcm.edu	37	chr12	15669737	15669737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaatgctctatcctttgggTcctacggccgtggttctgag	11	10	2	1	rs1050646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:15669737T>C	ENST00000281171.4	+	9	1956	c.1626T>C	c.(1624-1626)ggT>ggC	p.G542G	PTPRO_ENST00000348962.2_Silent_p.G542G|PTPRO_ENST00000543886.1_Silent_p.G542G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	542	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCCTTTGGGTCCTACGGCCG	0.428													T|||	599	0.119609	0.0605	0.134	5008	,	,		15788	0.0843		0.1869	False		,,,				2504	0.1564				p.G542G		Atlas-SNP	.											.	PTPRO	148	.	0			c.T1626C						PASS	.	T	,	317,4089	169.4+/-200.1	11,295,1897	137	127	130		1626,1626	-5.4	0.7	12	dbSNP_86	130	1560,7040	292.6+/-300.9	141,1278,2881	no	coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2	,	152,1573,4778	CC,CT,TT		18.1395,7.1947,14.4318	,	542/1189,542/1217	15669737	1877,11129	2203	4300	6503	SO:0001819	synonymous_variant	5800	exon9			TTTGGGTCCTACG	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1626T>C	12.37:g.15669737T>C		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	175	84	0.48	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																			T|0.853;C|0.147	0.147	strong		0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			C	15669737	T	C	15669737	2	2	23	1	0	0	0	0	0	0	0	1	12809	1654	58	2		2	PTPRO	12	15669737	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8173	15669737	118182158	3006	19462										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18656225	18656225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctaccaggattggtgcaGatggtacctgatgctgtgac	12	9	1	3	rs11044142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:18656225G>A	ENST00000266497.5	+	21	2942	c.2904G>A	c.(2902-2904)caG>caA	p.Q968Q	PIK3C2G_ENST00000538779.1_Silent_p.Q1009Q|PIK3C2G_ENST00000433979.1_Silent_p.Q968Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	968	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATTGGTGCAGATGGTACCTG	0.403													G|||	804	0.160543	0.3744	0.1254	5008	,	,		16910	0.0		0.1789	False		,,,				2504	0.0429				p.Q968Q		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.G2904A						PASS	.	G		1162,2554		193,776,889	92	88	89		2904	3	1	12	dbSNP_120	89	1401,6805		115,1171,2817	no	coding-synonymous	PIK3C2G	NM_004570.4		308,1947,3706	AA,AG,GG		17.0729,31.2702,21.4981		968/1446	18656225	2563,9359	1858	4103	5961	SO:0001819	synonymous_variant	5288	exon22			GGTGCAGATGGTA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2904G>A	12.37:g.18656225G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			G|0.842;A|0.158	0.158	strong		0.403	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18656225	G	A	18656225	2	1	23	1	0	0	0	0	0	0	0	1	11911	933	33	2		2	PIK3C2G	12	18656225	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2986488	18656225	115195670	3007	19463										
SLCO1C1	53919	hgsc.bcm.edu	37	chr12	20885931	20885931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagtgtgtgtggagctgcAaaactctacttgggatcatc	11	8	3	0	rs16923154	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:20885931A>G	ENST00000266509.2	+	10	1643	c.1275A>G	c.(1273-1275)gcA>gcG	p.A425A	SLCO1C1_ENST00000381552.1_Silent_p.A425A|SLCO1C1_ENST00000545102.1_Silent_p.A307A|SLCO1C1_ENST00000540354.1_Silent_p.A376A|SLCO1C1_ENST00000545604.1_Silent_p.A425A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	425					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A425A(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTGGAGCTGCAAAACTCTACT	0.448													A|||	394	0.0786741	0.0522	0.0288	5008	,	,		15838	0.1855		0.0865	False		,,,				2504	0.0317				p.A425A		Atlas-SNP	.											SLCO1C1,NS,carcinoma,0,1	SLCO1C1	216	1	1	Substitution - coding silent(1)	stomach(1)	c.A1275G						PASS	.	A	,,,	239,4167	139.6+/-175.2	5,229,1969	202	179	187		921,1128,1275,1275	1.3	1	12	dbSNP_123	187	678,7922	170.3+/-221.5	31,616,3653	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	36,845,5622	GG,GA,AA		7.8837,5.4244,7.0506	,,,	307/613,376/664,425/731,425/713	20885931	917,12089	2203	4300	6503	SO:0001819	synonymous_variant	53919	exon10			AGCTGCAAAACTC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1275A>G	12.37:g.20885931A>G		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	206	114	0.553398	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	CCDS8683.1																																																																																			A|0.919;G|0.081	0.081	strong		0.448	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		G	20885931	A	G	20885931	2	3	23	1	0	0	0	0	0	0	0	1	14725	117	5	2		2	SLCO1C1	12	20885931	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2229706	20885931	112965964	3008	19464										
LST-3TM12	338821	hgsc.bcm.edu	37	chr12	21176135	21176135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgacaggtactgtgaatgTaatgggaatgactggtctag	13	6	1	2	rs1546308	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:21176135T>C	ENST00000421593.2	+	5	500	c.500T>C	c.(499-501)gTa>gCa	p.V167A	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.V214A|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V214A	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	167				V -> A (in Ref. 1; AAQ03085). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACTGTGAATGTAATGGGAATG	0.338													C|||	4806	0.959665	0.9599	0.9078	5008	,	,		16740	0.998		0.9443	False		,,,				2504	0.9724				p.V167A		Atlas-SNP	.											.	SLCO1B7	85	.	0			c.T500C						PASS	.	C	ALA/VAL	4134,150		1995,144,3	193	193	193		500	2.5	0	12	dbSNP_88	193	8047,515		3781,485,15	yes	missense	SLCO1B7	NM_001009562.4	64	5776,629,18	CC,CT,TT		6.0149,3.5014,5.1767		167/641	21176135	12181,665	2142	4281	6423	SO:0001583	missense	338821	exon5			TGAATGTAATGGG	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.500T>C	12.37:g.21176135T>C	ENSP00000394168:p.Val167Ala	Somatic	506	1	0.00197628		WXS	Illumina HiSeq	Phase_I	427	425	0.995316	NM_001009562	Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	2098	0.9606227106227107	477	0.9695121951219512	332	0.9171270718232044	570	0.9965034965034965	719	0.9485488126649076	.	2.451	-0.326432	0.05350	0.964986	0.939851	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80566	-1.39;-1.39;-1.26	2.54	2.54	0.30619	.	0.348037	0.32120	N	0.006543	T	0.00012	0.0000	N	0.00332	-1.63	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37526	-0.9702	9	0.22706	T	0.39	.	7.439	0.27172	0.0:0.7659:0.0:0.2341	rs1546308;rs52795424;rs1546308	167;214	G3V0H7;F5H094	.;.	A	214;214;167	ENSP00000370952:V214A;ENSP00000452013:V214A;ENSP00000394168:V167A	ENSP00000370952:V214A	V	+	2	0	SLCO1B7;RP11-545J16.1	21067402	0.033000	0.19621	0.002000	0.10522	0.129000	0.20672	2.365000	0.44196	0.392000	0.25172	-1.063000	0.02288	GTA	T|0.041;C|0.959	0.959	strong		0.338	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		C	21176135	T	C	21176135	3	2	23	1	0	0	0	0	1	0	0	0	9066	1638	57	2	518	2	LST-3TM12	12	21176135	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	290204	21176135	112675760	3009	19465										
LST-3TM12	338821	hgsc.bcm.edu	37	chr12	21201663	21201663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggagtcctcgccctacctGctgttgcaattggcatgttt	10	11	0	0	rs11045689	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:21201663G>A	ENST00000421593.2	+	8	1012	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.A385T|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A385T	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	338				A -> T (in Ref. 1; AAQ03085). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CGCCCTACCTGCTGTTGCAAT	0.373													G|||	2373	0.473842	0.0885	0.634	5008	,	,		8003	0.3829		0.6402	False		,,,				2504	0.8037				p.A338T		Atlas-SNP	.											.	SLCO1B7	85	.	0			c.G1012A						PASS	.	G	THR/ALA	810,3110		98,614,1248	34	33	33		1012	-4	0	12	dbSNP_120	33	5522,2860		1829,1864,498	yes	missense	SLCO1B7	NM_001009562.4	58	1927,2478,1746	AA,AG,GG		34.1207,20.6633,48.5287		338/641	21201663	6332,5970	1960	4191	6151	SO:0001583	missense	338821	exon8			CTACCTGCTGTTG	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1012G>A	12.37:g.21201663G>A	ENSP00000394168:p.Ala338Thr	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	130	69	0.530769	NM_001009562	Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	1020	0.46703296703296704	58	0.11788617886178862	230	0.6353591160220995	234	0.4090909090909091	498	0.6569920844327177	.	2.948	-0.217340	0.06101	0.206633	0.658793	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;D	0.81739	-1.49;-1.49;-1.53	3.45	-4.01	0.04045	.	0.409800	0.25817	N	0.028113	T	0.00012	0.0000	N	0.04132	-0.27	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.15052	0.012;0.008	T	0.42103	-0.9471	9	0.21540	T	0.41	.	3.7602	0.08601	0.2411:0.0:0.4128:0.3461	rs11045689;rs52835474;rs60529983;rs11045689	338;385	G3V0H7;F5H094	.;.	T	385;385;338	ENSP00000370952:A385T;ENSP00000452013:A385T;ENSP00000394168:A338T	ENSP00000370952:A385T	A	+	1	0	SLCO1B7;RP11-545J16.1	21092930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.874000	0.04210	-0.643000	0.05473	-0.507000	0.04495	GCT	G|0.507;A|0.493	0.493	strong		0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21201663	G	A	21201663	3	1	23	1	0	0	0	0	1	0	0	0	9066	1319	46	2	1042	2	LST-3TM12	12	21201663	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25528	21201663	112650232	3010	19466										
SLCO1B1	10599	hgsc.bcm.edu	37	chr12	21331549	21331549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcatacatgtggatatatgTgttcatgggtaatatgcttc	10	5	2	0	rs4149056	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:21331549T>C	ENST00000256958.2	+	6	617	c.521T>C	c.(520-522)gTg>gCg	p.V174A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	174			V -> A (decreased transport activity; dbSNP:rs4149056). {ECO:0000269|PubMed:11477075, ECO:0000269|PubMed:12130747}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGGATATATGTGTTCATGGGT	0.343													T|||	439	0.0876597	0.0136	0.134	5008	,	,		15111	0.123		0.161	False		,,,				2504	0.0429				p.V174A		Atlas-SNP	.											.	SLCO1B1	151	.	0			c.T521C	GRCh37	CM043777	SLCO1B1	M	rs4149056	PASS	.	T	ALA/VAL	159,4247	108.6+/-147.0	3,153,2047	144	135	138	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	521	3.6	0.1	12	dbSNP_110	138	1336,7264	261.4+/-283.8	119,1098,3083	yes	missense	SLCO1B1	NM_006446.4	64	122,1251,5130	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	15.5349,3.6087,11.4947	probably-damaging	174/692	21331549	1495,11511	2203	4300	6503	SO:0001583	missense	10599	exon6			TATATGTGTTCAT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.521T>C	12.37:g.21331549T>C	ENSP00000256958:p.Val174Ala	Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	253	149	0.588933	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	268	0.1227106227106227	13	0.026422764227642278	50	0.13812154696132597	73	0.12762237762237763	132	0.1741424802110818	T	12.39	1.923669	0.34002	0.036087	0.155349	ENSG00000134538	ENST00000256958	T	0.43294	0.95	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.163062	0.39687	N	0.001300	T	0.00440	0.0014	M	0.92833	3.35	0.54753	P	1.4999999999987246E-5	D	0.89917	1.0	D	0.83275	0.996	T	0.43196	-0.9406	9	0.87932	D	0	.	12.6758	0.56893	0.0:0.0:0.0:1.0	rs4149056;rs52816141;rs60037639;rs4149056	174	Q9Y6L6	SO1B1_HUMAN	A	174	ENSP00000256958:V174A	ENSP00000256958:V174A	V	+	2	0	SLCO1B1	21222816	1.000000	0.71417	0.058000	0.19502	0.015000	0.08874	7.326000	0.79133	1.641000	0.50575	0.260000	0.18958	GTG	T|0.890;C|0.110	0.110	strong		0.343	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		C	21331549	T	C	21331549	3	2	23	1	0	0	0	0	1	0	0	0	14723	1696	59	2	539	2	SLCO1B1	12	21331549	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	129886	21331549	112520346	3011	19467										
SLCO1B1	10599	hgsc.bcm.edu	37	chr12	21331625	21331625	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttcttacattgatgatttCgctaaagaaggacattcttc	6	8	2	3	rs2291075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:21331625C>T	ENST00000256958.2	+	6	693	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	199					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTGATGATTTCGCTAAAGAAG	0.358													T|||	2081	0.415535	0.5598	0.3314	5008	,	,		15258	0.5109		0.3966	False		,,,				2504	0.2014				p.F199F		Atlas-SNP	.											SLCO1B1,NS,carcinoma,+2,1	SLCO1B1	151	1	0			c.C597T						PASS	.	T		2401,2005	559.9+/-380.3	649,1103,451	122	113	116		597	2.5	1	12	dbSNP_100	116	3438,5162	636.0+/-399.1	695,2048,1557	yes	coding-synonymous	SLCO1B1	NM_006446.4		1344,3151,2008	TT,TC,CC		39.9767,45.5061,44.8947		199/692	21331625	5839,7167	2203	4300	6503	SO:0001819	synonymous_variant	10599	exon6			TGATTTCGCTAAA		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.597C>T	12.37:g.21331625C>T		Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	193	192	0.994819	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	CCDS8685.1																																																																																			C|0.548;T|0.452	0.452	strong		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21331625	C	T	21331625	2	4	23	1	0	0	0	0	0	0	0	1	14723	883	31	1		1	SLCO1B1	12	21331625	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	76	21331625	112520270	3012	19468										
SLCO1A2	6579	hgsc.bcm.edu	37	chr12	21487544	21487544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaacttggaaagacatcttAttctatgggtttcaattctt	6	7	5	1	rs10841795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:21487544A>G	ENST00000307378.6	-	3	758	c.38T>C	c.(37-39)aTa>aCa	p.I13T	SLCO1A2_ENST00000390670.3_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I13T|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	13			I -> T (in dbSNP:rs10841795). {ECO:0000269|PubMed:15632119}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AAGACATCTTATTCTATGGGT	0.348													A|||	258	0.0515176	0.0045	0.072	5008	,	,		18017	0.003		0.1272	False		,,,				2504	0.0726				p.I13T		Atlas-SNP	.											SLCO1A2,NS,carcinoma,0,1	SLCO1A2	107	1	0			c.T38C						scavenged	.	A	THR/ILE,THR/ILE	113,4293	85.8+/-124.5	3,107,2093	223	207	213		38,38	3.7	0.8	12	dbSNP_120	213	1169,7425	238.9+/-270.2	96,977,3224	yes	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	89,89	99,1084,5317	GG,GA,AA		13.6025,2.5647,9.8615	benign,benign	13/671,13/671	21487544	1282,11718	2203	4297	6500	SO:0001583	missense	6579	exon3			CATCTTATTCTAT		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.38T>C	12.37:g.21487544A>G	ENSP00000305974:p.Ile13Thr	Somatic	188	1	0.00531915		WXS	Illumina HiSeq	Phase_I	177	90	0.508475	NM_134431	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	132	0.06043956043956044	6	0.012195121951219513	27	0.07458563535911603	1	0.0017482517482517483	98	0.12928759894459102	A	2.680	-0.275492	0.05679	0.025647	0.136025	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000422327;ENST00000453443;ENST00000421294;ENST00000450590;ENST00000435179;ENST00000421287;ENST00000416627	T;T;T;T;T;T;T;T	0.58060	1.2;1.2;1.37;1.37;0.38;0.37;0.36;0.92	4.89	3.74	0.42951	Major facilitator superfamily domain, general substrate transporter (1);	0.445107	0.23581	N	0.046652	T	0.00210	0.0006	N	0.05441	-0.05	0.09310	P	0.99999273965	B	0.09022	0.002	B	0.09377	0.004	T	0.08493	-1.0719	9	0.17832	T	0.49	.	7.4597	0.27287	0.9023:0.0:0.0977:0.0	rs10841795;rs52792469;rs57921276;rs10841795	13	P46721	SO1A2_HUMAN	T	13	ENSP00000305974:I13T;ENSP00000393973:I13T;ENSP00000416190:I13T;ENSP00000409314:I13T;ENSP00000390572:I13T;ENSP00000407462:I13T;ENSP00000401195:I13T;ENSP00000390672:I13T	ENSP00000305974:I13T	I	-	2	0	SLCO1A2	21378811	0.990000	0.36364	0.849000	0.33467	0.977000	0.68977	2.454000	0.44979	0.995000	0.38917	0.528000	0.53228	ATA	A|0.924;G|0.076	0.076	strong		0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		G	21487544	A	G	21487544	3	3	23	1	0	0	0	0	1	0	0	0	14722	449	16	2	2030	2	SLCO1A2	12	21487544	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	155919	21487544	112364351	3013	19469										
SSPN	8082	hgsc.bcm.edu	37	chr12	26377232	26377232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttctcccttgcaggtctgcTtagtggcctatcttggcttg	11	11	3	0	rs34624361	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:26377232T>C	ENST00000242729.2	+	2	463	c.286T>C	c.(286-288)Tta>Cta	p.L96L	SSPN_ENST00000540266.1_5'UTR|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_5'UTR|SSPN_ENST00000535504.1_Silent_p.L96L	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	96					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)		p.L96L(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GCAGGTCTGCTTAGTGGCCTA	0.413													T|||	358	0.0714856	0.0915	0.098	5008	,	,		21111	0.0357		0.0686	False		,,,				2504	0.0654				p.L96L		Atlas-SNP	.											SSPN,NS,carcinoma,0,1	SSPN	19	1	1	Substitution - coding silent(1)	stomach(1)	c.T286C						scavenged	.	T	,	452,3954	216.8+/-235.3	22,408,1773	349	327	335		,286	-7.1	0.4	12	dbSNP_126	335	625,7975	161.9+/-214.7	29,567,3704	no	utr-5,coding-synonymous	SSPN	NM_001135823.1,NM_005086.4	,	51,975,5477	CC,CT,TT		7.2674,10.2587,8.2808	,	,96/244	26377232	1077,11929	2203	4300	6503	SO:0001819	synonymous_variant	8082	exon2			GTCTGCTTAGTGG	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"Kras oncogene-associated gene"	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.286T>C	12.37:g.26377232T>C		Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	205	92	0.44878	NM_005086	B3KS67	Silent	SNP	ENST00000242729.2	37	CCDS8707.1																																																																																			T|0.919;C|0.081	0.081	strong		0.413	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		C	26377232	T	C	26377232	2	2	23	1	0	0	0	0	0	0	0	1	15187	1606	56	3		3	SSPN	12	26377232	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4889688	26377232	107474663	3014	19470										
ITPR2	3709	hgsc.bcm.edu	37	chr12	26810777	26810777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcatcatcaatgtcatcTgaaaggatggagctctccat	7	10	7	1	rs2291264	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:26810777T>C	ENST00000381340.3	-	18	2471	c.2055A>G	c.(2053-2055)tcA>tcG	p.S685S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	685					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)	CAATGTCATCTGAAAGGATGG	0.408													C|||	1990	0.397364	0.1921	0.4524	5008	,	,		19311	0.6518		0.3628	False		,,,				2504	0.409				p.S685S		Atlas-SNP	.											.	ITPR2	270	.	0			c.A2055G						PASS	.	C		830,2970		97,636,1167	114	106	108		2055	-4.6	0.1	12	dbSNP_100	108	2898,5330		505,1888,1721	no	coding-synonymous	ITPR2	NM_002223.2		602,2524,2888	CC,CT,TT		35.2212,21.8421,30.9943		685/2702	26810777	3728,8300	1900	4114	6014	SO:0001819	synonymous_variant	3709	exon18			GTCATCTGAAAGG	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.2055A>G	12.37:g.26810777T>C		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	230	103	0.447826	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			T|0.606;C|0.394	0.394	strong		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26810777	T	C	26810777	2	2	23	1	0	0	0	0	0	0	0	1	7921	1567	55	3		3	ITPR2	12	26810777	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	433545	26810777	107041118	3015	19471										
C12orf11	55726	hgsc.bcm.edu	37	chr12	27064232	27064232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaattcttcttttccacgCtctaagattccttttaatct	3	12	4	1	rs3210635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:27064232C>T	ENST00000261191.7	-	15	2360	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	ASUN_ENST00000539625.1_Silent_p.E507E	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	608					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTTTTCCACGCTCTAAGATTC	0.328													C|||	2901	0.579273	0.5514	0.4366	5008	,	,		15972	0.7609		0.492	False		,,,				2504	0.6207				p.E608E		Atlas-SNP	.											.	.	.	.	0			c.G1824A						PASS	.	C		2267,2139	595.0+/-388.3	581,1105,517	83	82	82		1824	3.1	1	12	dbSNP_105	82	4070,4528	557.5+/-387.1	983,2104,1212	no	coding-synonymous	C12orf11	NM_018164.2		1564,3209,1729	TT,TC,CC		47.3366,48.5474,48.7312		608/707	27064232	6337,6667	2203	4299	6502	SO:0001819	synonymous_variant	55726	exon15			TCCACGCTCTAAG	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1824G>A	12.37:g.27064232C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	135	132	0.977778	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	CCDS8708.1																																																																																			C|0.475;T|0.525	0.525	strong		0.328	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		T	27064232	C	T	27064232	2	4	23	1	0	0	0	0	0	0	0	1	1675	796	28	2		2	C12orf11	12	27064232	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	253455	27064232	106787663	3016	19472										
C12orf71	728858	hgsc.bcm.edu	37	chr12	27235381	27235381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaattggatttggagctgtcGtcctctatgtcgctgttaga	12	7	1	1	rs708168	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:27235381G>A	ENST00000429849.2	-	1	66	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	12										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TGGAGCTGTCGTCCTCTATGT	0.458													G|||	641	0.127995	0.0461	0.121	5008	,	,		19977	0.006		0.329	False		,,,				2504	0.1626				p.D12D		Atlas-SNP	.											.	C12orf71	20	.	0			c.C36T						PASS	.	G		319,3427		19,281,1573	34	32	32		36	-0.2	0	12	dbSNP_86	32	2596,5632		421,1754,1939	no	coding-synonymous	C12orf71	NM_001080406.1		440,2035,3512	AA,AG,GG		31.5508,8.5158,24.3444		12/270	27235381	2915,9059	1873	4114	5987	SO:0001819	synonymous_variant	728858	exon1			GCTGTCGTCCTCT		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.36C>T	12.37:g.27235381G>A		Somatic	495	2	0.0040404		WXS	Illumina HiSeq	Phase_I	451	211	0.467849	NM_001080406		Silent	SNP	ENST00000429849.2	37	CCDS44851.1																																																																																			G|0.820;A|0.180	0.180	strong		0.458	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		A	27235381	G	A	27235381	2	1	23	1	0	0	0	0	0	0	0	1	1712	1136	40	1		1	C12orf71	12	27235381	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	171149	27235381	106616514	3017	19473										
FAR2	55711	hgsc.bcm.edu	37	chr12	29423460	29423460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctttctgggcaaagtgctGatggagaagctgtttcgcac	14	8	1	2	rs2216854	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:29423460G>A	ENST00000536681.3	+	2	324	c.78G>A	c.(76-78)ctG>ctA	p.L26L	FAR2_ENST00000182377.4_Silent_p.L26L|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	26					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.L26L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCAAAGTGCTGATGGAGAAGC	0.522													G|||	2143	0.427915	0.6399	0.2781	5008	,	,		19075	0.4058		0.3459	False		,,,				2504	0.3548				p.L26L		Atlas-SNP	.											FAR2,NS,carcinoma,0,1	FAR2	60	1	1	Substitution - coding silent(1)	stomach(1)	c.G78A						PASS	.	G		2631,1775	643.9+/-397.9	785,1061,357	79	77	78		78	2.2	1	12	dbSNP_96	78	3261,5339	489.3+/-372.6	641,1979,1680	no	coding-synonymous	FAR2	NM_018099.3		1426,3040,2037	AA,AG,GG		37.9186,40.286,45.3022		26/516	29423460	5892,7114	2203	4300	6503	SO:0001819	synonymous_variant	55711	exon2			AGTGCTGATGGAG	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.78G>A	12.37:g.29423460G>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	164	69	0.420732	NM_018099	F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	CCDS8717.1																																																																																			G|0.554;A|0.446	0.446	strong		0.522	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		A	29423460	G	A	29423460	2	1	23	1	0	0	0	0	0	0	0	1	5675	1277	45	2		2	FAR2	12	29423460	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2188079	29423460	104428435	3018	19474										
SYT10	341359	hgsc.bcm.edu	37	chr12	33538179	33538179	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtcatacgcccagccgtCggtaggtaacaaagggaaaa	11	9	1	0	rs11052670	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:33538179C>T	ENST00000228567.3	-	4	1421	c.1125G>A	c.(1123-1125)ccG>ccA	p.P375P	SYT10_ENST00000535526.1_Silent_p.P194P	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	375	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCCAGCCGTCGGTAGGTAAC	0.438													C|||	134	0.0267572	0.0015	0.0202	5008	,	,		16837	0.001		0.0606	False		,,,				2504	0.0573				p.P375P		Atlas-SNP	.											.	SYT10	109	.	0			c.G1125A						PASS	.	C		71,4335	64.7+/-102.0	0,71,2132	136	113	121		1125	-9	0.3	12	dbSNP_120	121	557,8043	152.5+/-207.1	14,529,3757	no	coding-synonymous	SYT10	NM_198992.3		14,600,5889	TT,TC,CC		6.4767,1.6114,4.8285		375/524	33538179	628,12378	2203	4300	6503	SO:0001819	synonymous_variant	341359	exon4			AGCCGTCGGTAGG	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1125G>A	12.37:g.33538179C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	88	45	0.511364	NM_198992	Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																			C|0.958;T|0.042	0.042	strong		0.438	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		T	33538179	C	T	33538179	2	4	23	1	0	0	0	0	0	0	0	1	15463	871	31	1		1	SYT10	12	33538179	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4114719	33538179	100313716	3019	19475										
PDZRN4	29951	hgsc.bcm.edu	37	chr12	41967677	41967677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccataatgccttcttgtcGgtgaccactgtatgaccgaa	9	11	1	2	rs3747556	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:41967677G>A	ENST00000402685.2	+	10	3104	c.3096G>A	c.(3094-3096)tcG>tcA	p.S1032S	PDZRN4_ENST00000539469.2_Silent_p.S774S|PDZRN4_ENST00000298919.7_Silent_p.S772S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1032							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCTTCTTGTCGGTGACCACTG	0.463													G|||	710	0.141773	0.1157	0.1916	5008	,	,		17226	0.2837		0.0944	False		,,,				2504	0.044				p.S1032S		Atlas-SNP	.											.	PDZRN4	346	.	0			c.G3096A						PASS	.	G	,	541,3865	244.0+/-253.5	30,481,1692	82	70	74		3096,2322	-9.6	0.7	12	dbSNP_107	74	964,7636	209.4+/-250.6	47,870,3383	no	coding-synonymous,coding-synonymous	PDZRN4	NM_001164595.1,NM_013377.3	,	77,1351,5075	AA,AG,GG		11.2093,12.2787,11.5716	,	1032/1037,774/779	41967677	1505,11501	2203	4300	6503	SO:0001819	synonymous_variant	29951	exon10			CTTGTCGGTGACC	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.3096G>A	12.37:g.41967677G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	106	54	0.509434	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																			G|0.870;A|0.130	0.130	strong		0.463	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41967677	G	A	41967677	2	1	23	1	0	0	0	0	0	0	0	1	11710	1103	39	1		1	PDZRN4	12	41967677	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8429498	41967677	91884218	3020	19476										
GXYLT1	283464	hgsc.bcm.edu	37	chr12	42503467	42503467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtataacgtataattaaaTgtttgtagaaatgaccagtt	9	3	0	2	rs7312933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:42503467T>C	ENST00000398675.3	-	4	745	c.513A>G	c.(511-513)acA>acG	p.T171T	GXYLT1_ENST00000280876.6_Silent_p.T140T	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	171					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TATAATTAAATGTTTGTAGAA	0.328													T|||	1763	0.352037	0.2012	0.3012	5008	,	,		12711	0.4365		0.3787	False		,,,				2504	0.4775				p.T171T		Atlas-SNP	.											.	GXYLT1	47	.	0			c.A513G						PASS	.	T	,	839,2763		82,675,1044	39	38	38		420,513	3.2	1	12	dbSNP_116	38	3039,5089		541,1957,1566	no	coding-synonymous,coding-synonymous	GXYLT1	NM_001099650.1,NM_173601.1	,	623,2632,2610	CC,CT,TT		37.3893,23.2926,33.0605	,	140/410,171/441	42503467	3878,7852	1801	4064	5865	SO:0001819	synonymous_variant	283464	exon4			ATTAAATGTTTGT	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.513A>G	12.37:g.42503467T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_173601	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																			T|0.670;C|0.330	0.330	strong		0.328	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		C	42503467	T	C	42503467	2	2	23	1	0	0	0	0	0	0	0	1	6903	1451	51	2		2	GXYLT1	12	42503467	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	535790	42503467	91348428	3021	19477										
YAF2	10138	hgsc.bcm.edu	37	chr12	42554505	42554505	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgactgtgttgatctgcagaAgcagcactagatgcaggcgg	14	8	1	4	rs1059360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:42554505A>G	ENST00000534854.2	-	4	496	c.429T>C	c.(427-429)gcT>gcC	p.A143A	YAF2_ENST00000380788.3_Silent_p.A134A|YAF2_ENST00000327791.4_Silent_p.A119A|YAF2_ENST00000442791.3_Silent_p.A167A|YAF2_ENST00000380790.4_Silent_p.A101A	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	143					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		GATCTGCAGAAGCAGCACTAG	0.458													A|||	1832	0.365815	0.2451	0.2896	5008	,	,		17235	0.4573		0.3946	False		,,,				2504	0.4591				p.A167A		Atlas-SNP	.											.	YAF2	16	.	0			c.T501C						PASS	.	A	,,	1187,3219	415.2+/-337.1	147,893,1163	91	79	83		303,501,429	0.6	1	12	dbSNP_86	83	3258,5342	487.8+/-372.2	593,2072,1635	no	coding-synonymous,coding-synonymous,coding-synonymous	YAF2	NM_001190977.1,NM_001190979.1,NM_005748.4	,,	740,2965,2798	GG,GA,AA		37.8837,26.9405,34.1765	,,	101/139,167/205,143/181	42554505	4445,8561	2203	4300	6503	SO:0001819	synonymous_variant	10138	exon5			TGCAGAAGCAGCA	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.429T>C	12.37:g.42554505A>G		Somatic	168	1	0.00595238		WXS	Illumina HiSeq	Phase_I	137	135	0.985401	NM_001190979	A8K5P0|B4DFU3|G3V465|Q99710	Silent	SNP	ENST00000534854.2	37	CCDS31775.1																																																																																			A|0.654;G|0.346	0.346	strong		0.458	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			G	42554505	A	G	42554505	2	3	23	1	0	0	0	0	0	0	0	1	17462	59	3	3		3	YAF2	12	42554505	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	51038	42554505	91297390	3022	19478										
PPHLN1	51535	hgsc.bcm.edu	37	chr12	42839923	42839923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccggaagaaacgggttcGtcggacgacacagcttcgtc	13	13	0	1	rs201876048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:42839923G>A	ENST00000395568.2	+	12	1265	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R370H|PPHLN1_ENST00000256678.8_Missense_Mutation_p.R299H	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	394					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		aaacgggttcgtcggacgaca	0.622													G|||	3	0.000599042	0.0	0.0014	5008	,	,		11704	0.0		0.002	False		,,,				2504	0.0				p.R394H		Atlas-SNP	.											.	PPHLN1	101	.	0			c.G1181A						PASS	.	G	HIS/ARG,HIS/ARG	1,4325		0,1,2162	7	8	8		1109,1181	0.2	0.1	12		8	18,8426		0,18,4204	yes	missense,missense	PPHLN1	NM_001143787.1,NM_016488.6	29,29	0,19,6366	AA,AG,GG		0.2132,0.0231,0.1488	probably-damaging,probably-damaging	370/435,394/459	42839923	19,12751	2163	4222	6385	SO:0001583	missense	51535	exon12			GGGTTCGTCGGAC	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1181G>A	12.37:g.42839923G>A	ENSP00000378935:p.Arg394His	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	93	47	0.505376	NM_016488	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	5.312	0.242935	0.10077	2.31E-4	0.002132	ENSG00000134283	ENST00000395568;ENST00000256678;ENST00000432191	.	.	.	0.158	0.158	0.14942	.	0.000000	0.85682	U	0.000000	T	0.12263	0.0298	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.20706	-1.0267	8	0.87932	D	0	.	.	.	.	.	299;345;370;394	F8W6A0;B7Z695;Q8NEY8-3;Q8NEY8	.;.;.;PPHLN_HUMAN	H	394;299;370	.	ENSP00000256678:R299H	R	+	2	0	PPHLN1	41126190	0.328000	0.24687	0.148000	0.22405	0.150000	0.21749	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	CGT	.	.	weak		0.622	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		A	42839923	G	A	42839923	3	1	23	1	0	0	0	0	1	0	0	0	12315	1145	40	1	1433	1	PPHLN1	12	42839923	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	285418	42839923	91011972	3023	19479										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43769228	43769228	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcttattttgctgaaaacAgtgtatccagcagctaagtg	8	7	1	1	rs10506226	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:43769228A>C	ENST00000389420.3	-	36	5399	c.5400T>G	c.(5398-5400)acT>acG	p.T1800T		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1800	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAAAACAGTGTATCCAG	0.338													A|||	1114	0.222444	0.4213	0.1239	5008	,	,		17947	0.1002		0.1998	False		,,,				2504	0.1728				p.T1800T		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.T5400G						PASS	.	A		1633,2773	500.1+/-364.6	310,1013,880	137	133	134		5400	-3.6	0.2	12	dbSNP_119	134	1768,6832	319.5+/-314.2	182,1404,2714	no	coding-synonymous	ADAMTS20	NM_025003.3		492,2417,3594	CC,CA,AA		20.5581,37.0631,26.1495		1800/1911	43769228	3401,9605	2203	4300	6503	SO:0001819	synonymous_variant	80070	exon36			GAAAACAGTGTAT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5400T>G	12.37:g.43769228A>C		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	144	56	0.388889	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			A|0.790;C|0.210	0.210	strong		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769228	A	C	43769228	2	2	23	1	0	0	0	0	0	0	0	1	266	175	7	5		5	ADAMTS20	12	43769228	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	929305	43769228	90082667	3024	19480										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43769276	43769276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacattcacagtcttccctTctactcccattaaaaggaca	3	14	4	0	rs10880473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:43769276T>C	ENST00000389420.3	-	36	5351	c.5352A>G	c.(5350-5352)agA>agG	p.R1784R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1784	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCTTCCCTTCTACTCCCAT	0.348													C|||	1121	0.223842	0.4266	0.1239	5008	,	,		18065	0.1002		0.1998	False		,,,				2504	0.1728				p.R1784R		Atlas-SNP	.											ADAMTS20_ENST00000389420,neck,malignant_melanoma,-2,1	ADAMTS20	635	1	0			c.A5352G						scavenged	.	C		1647,2759	659.9+/-400.6	316,1015,872	156	153	154		5352	2	1	12	dbSNP_120	154	1768,6832	734.1+/-406.9	182,1404,2714	no	coding-synonymous	ADAMTS20	NM_025003.3		498,2419,3586	CC,CT,TT		20.5581,37.3808,26.2571		1784/1911	43769276	3415,9591	2203	4300	6503	SO:0001819	synonymous_variant	80070	exon36			TTCCCTTCTACTC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5352A>G	12.37:g.43769276T>C		Somatic	193	1	0.00518135		WXS	Illumina HiSeq	Phase_I	157	61	0.388535	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			T|0.747;C|0.253	0.253	strong		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769276	T	C	43769276	2	2	23	1	0	0	0	0	0	0	0	1	266	1780	62	2		2	ADAMTS20	12	43769276	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	48	43769276	90082619	3025	19481										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43822171	43822171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatagcttggctgcacagggGaactaggaaagtggctgtgt	15	6	0	0	rs7310011	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:43822171G>A	ENST00000389420.3	-	26	3817	c.3818C>T	c.(3817-3819)tCc>tTc	p.S1273F	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S391F|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1273F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1273			S -> F (in dbSNP:rs7310011).		extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCACAGGGGAACTAGGAAA	0.458													G|||	183	0.0365415	0.0015	0.0086	5008	,	,		13663	0.0694		0.0348	False		,,,				2504	0.0716				p.S1273F		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.C3818T						PASS	.	G	PHE/SER	26,4380	31.7+/-61.6	0,26,2177	86	83	84		3818	4.9	0.8	12	dbSNP_116	84	242,8358	97.2+/-158.9	6,230,4064	yes	missense	ADAMTS20	NM_025003.3	155	6,256,6241	AA,AG,GG		2.814,0.5901,2.0606	benign	1273/1911	43822171	268,12738	2203	4300	6503	SO:0001583	missense	80070	exon26			ACAGGGGAACTAG	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3818C>T	12.37:g.43822171G>A	ENSP00000374071:p.Ser1273Phe	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	208	96	0.461538	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	78	0.03571428571428571	0	0.0	5	0.013812154696132596	44	0.07692307692307693	29	0.03825857519788918	G	0.596	-0.830847	0.02713	0.005901	0.02814	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61859	0.24;0.09;0.09;0.07	4.94	4.94	0.65067	.	0.000000	0.44285	D	0.000470	T	0.04497	0.0123	N	0.24115	0.695	0.09310	N	1	B;D	0.62365	0.105;0.991	B;P	0.52424	0.016;0.698	T	0.03344	-1.1046	10	0.48119	T	0.1	.	8.9011	0.35495	0.081:0.0:0.7667:0.1522	rs7310011	1273;391	P59510;E9PBD5	ATS20_HUMAN;.	F	1273;403;391;1273;1273	ENSP00000374071:S1273F;ENSP00000447427:S403F;ENSP00000378911:S391F;ENSP00000448341:S1273F	ENSP00000374068:S1273F	S	-	2	0	ADAMTS20	42108438	0.994000	0.37717	0.778000	0.31720	0.002000	0.02628	1.179000	0.31993	2.675000	0.91044	0.585000	0.79938	TCC	G|0.974;A|0.026	0.026	strong		0.458	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43822171	G	A	43822171	3	1	23	1	0	0	0	0	1	0	0	0	266	1174	41	2	1969	2	ADAMTS20	12	43822171	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	52895	43822171	90029724	3026	19482										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43826204	43826204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcattcattgtcagcaagaCgatggccaaagttattcata	9	8	3	1	rs7297737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:43826204C>T	ENST00000389420.3	-	21	2998	c.2999G>A	c.(2998-3000)cGt>cAt	p.R1000H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R154H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1000H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1000	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in dbSNP:rs7297737).		extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCAGCAAGACGATGGCCAAA	0.433													C|||	183	0.0365415	0.0015	0.0086	5008	,	,		16709	0.0694		0.0348	False		,,,				2504	0.0716				p.R1000H		Atlas-SNP	.											ADAMTS20_ENST00000389420,colon,carcinoma,-1,1	ADAMTS20	635	1	0			c.G2999A						scavenged	.	C	HIS/ARG	26,4380	31.7+/-61.6	0,26,2177	128	125	126		2999	-1.3	0.1	12	dbSNP_116	126	243,8357	97.7+/-159.3	6,231,4063	yes	missense	ADAMTS20	NM_025003.3	29	6,257,6240	TT,TC,CC		2.8256,0.5901,2.0683	benign	1000/1911	43826204	269,12737	2203	4300	6503	SO:0001583	missense	80070	exon21			GCAAGACGATGGC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2999G>A	12.37:g.43826204C>T	ENSP00000374071:p.Arg1000His	Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	167	70	0.419162	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	78	0.03571428571428571	0	0.0	5	0.013812154696132596	44	0.07692307692307693	29	0.03825857519788918	C	5.530	0.282795	0.10458	0.005901	0.028256	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.89	-1.3	0.09259	.	0.364200	0.23662	N	0.045818	T	0.02610	0.0079	L	0.42529	1.33	0.27320	N	0.957055	B;B	0.30634	0.015;0.288	B;B	0.29176	0.009;0.099	T	0.03717	-1.1010	10	0.42905	T	0.14	.	11.5449	0.50688	0.0:0.5165:0.0:0.4835	rs7297737;rs52825347;rs59491718;rs7297737	1000;154	P59510;E9PBD5	ATS20_HUMAN;.	H	1000;166;154;1000;1000	ENSP00000374071:R1000H;ENSP00000447427:R166H;ENSP00000378911:R154H;ENSP00000448341:R1000H	ENSP00000374068:R1000H	R	-	2	0	ADAMTS20	42112471	0.859000	0.29813	0.064000	0.19789	0.839000	0.47603	1.193000	0.32162	-0.387000	0.07809	-0.794000	0.03295	CGT	C|0.968;T|0.032	0.032	strong		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43826204	C	T	43826204	3	4	23	1	0	0	0	0	1	0	0	0	266	536	19	1	2808	1	ADAMTS20	12	43826204	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4033	43826204	90025691	3027	19483										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43828141	43828141	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacaacactatgatcactcTtatgtatgcaagttatgttt	5	8	2	1	rs7302446	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:43828141T>A	ENST00000389420.3	-	19	2626	c.2627A>T	c.(2626-2628)aAg>aTg	p.K876M	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.K30M|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.K876M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	876	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.		K -> M (in dbSNP:rs7302446).		extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGATCACTCTTATGTATGCA	0.338													T|||	183	0.0365415	0.0015	0.0086	5008	,	,		19783	0.0694		0.0348	False		,,,				2504	0.0716				p.K876M		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.A2627T						PASS	.	T	MET/LYS	26,4380	29.9+/-59.1	0,26,2177	81	67	72		2627	3.7	1	12	dbSNP_116	72	239,8355	90.4+/-152.6	5,229,4063	yes	missense	ADAMTS20	NM_025003.3	95	5,255,6240	AA,AT,TT		2.781,0.5901,2.0385	probably-damaging	876/1911	43828141	265,12735	2203	4297	6500	SO:0001583	missense	80070	exon19			TCACTCTTATGTA	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2627A>T	12.37:g.43828141T>A	ENSP00000374071:p.Lys876Met	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	153	61	0.398693	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	78	0.03571428571428571	0	0.0	5	0.013812154696132596	44	0.07692307692307693	29	0.03825857519788918	T	14.92	2.679115	0.47886	0.005901	0.02781	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.91	3.72	0.42706	.	0.121955	0.35708	N	0.003035	T	0.10208	0.0250	M	0.77616	2.38	0.36197	D	0.850469	D;D	0.65815	0.988;0.995	P;P	0.58928	0.848;0.844	T	0.55749	-0.8092	10	0.66056	D	0.02	.	4.4211	0.11481	0.1495:0.1519:0.0:0.6986	rs7302446;rs52813354;rs7302446	876;30	P59510;E9PBD5	ATS20_HUMAN;.	M	876;42;30;876;876	ENSP00000374071:K876M;ENSP00000447427:K42M;ENSP00000378911:K30M;ENSP00000448341:K876M	ENSP00000374068:K876M	K	-	2	0	ADAMTS20	42114408	0.997000	0.39634	0.994000	0.49952	0.925000	0.55904	0.528000	0.23002	0.913000	0.36797	0.533000	0.62120	AAG	T|0.974;A|0.026	0.026	strong		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43828141	T	A	43828141	3	1	23	1	0	0	0	0	1	0	0	0	266	1609	56	5	3188	5	ADAMTS20	12	43828141	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1937	43828141	90023754	3028	19484										
TWF1	5756	hgsc.bcm.edu	37	chr12	44191625	44191625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttagtgtccacacccacGtcagtctgtacctaagtatg	8	12	2	0	rs12829856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:44191625G>A	ENST00000395510.2	-	6	624	c.495C>T	c.(493-495)gaC>gaT	p.D165D	TWF1_ENST00000548315.1_Silent_p.D172D|TWF1_ENST00000552521.1_Silent_p.D67D|TWF1_ENST00000325127.4_Silent_p.D199D	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	165					barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCACACCCACGTCAGTCTGTA	0.378													G|||	491	0.0980431	0.1687	0.0677	5008	,	,		17574	0.0863		0.0964	False		,,,				2504	0.0378				p.D172D		Atlas-SNP	.											.	TWF1	37	.	0			c.C516T						PASS	.	G	,	607,3799	265.3+/-266.6	32,543,1628	99	95	96		516,495	-3.5	1	12	dbSNP_121	96	802,7798	188.0+/-235.1	26,750,3524	yes	coding-synonymous,coding-synonymous	TWF1	NM_001242397.1,NM_002822.4	,	58,1293,5152	AA,AG,GG		9.3256,13.7767,10.8335	,	172/358,165/351	44191625	1409,11597	2203	4300	6503	SO:0001819	synonymous_variant	5756	exon7			ACCCACGTCAGTC	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.495C>T	12.37:g.44191625G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	54	19	0.351852	NM_001242397	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	ENST00000395510.2	37	CCDS31780.2																																																																																			G|0.896;A|0.104	0.104	strong		0.378	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		A	44191625	G	A	44191625	2	1	23	1	0	0	0	0	0	0	0	1	16778	1136	40	1		1	TWF1	12	44191625	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	363484	44191625	89660270	3029	19485										
DBX2	440097	hgsc.bcm.edu	37	chr12	45444426	45444426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgttccgtagggcgccccGgcggggctaacttgttcggc	16	14	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:45444426G>A	ENST00000332700.6	-	1	456	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	95					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGGGCGCCCCGGCGGGGCTAA	0.721																																					p.A95A		Atlas-SNP	.											.	DBX2	45	.	0			c.C285T						PASS	.						4	5	5					12																	45444426		1972	3943	5915	SO:0001819	synonymous_variant	440097	exon1			CGCCCCGGCGGGG		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.285C>T	12.37:g.45444426G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	68	21	0.308824	NM_001004329		Silent	SNP	ENST00000332700.6	37	CCDS31781.1																																																																																			.	.	none		0.721	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		A	45444426	G	A	45444426	2	1	23	1	0	0	0	0	0	0	0	1	4260	1103	39	1		1	DBX2	12	45444426	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1252801	45444426	88407469	3030	19486										
AMIGO2	91523	hgsc.bcm.edu	37	chr12	47471287	47471287	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgagtcagatttccccctcGtggactttaggatgccctca	9	13	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:47471287G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.T500M|AMIGO2_ENST00000321382.3_Missense_Mutation_p.T500M|AMIGO2_ENST00000266581.4_Missense_Mutation_p.T500M|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T500M			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TTTCCCCCTCGTGGACTTTAG	0.468																																					p.T500M		Atlas-SNP	.											AMIGO2,NS,carcinoma,-1,1	AMIGO2	50	1	0			c.C1499T						PASS	.						70	66	67					12																	47471287		2203	4300	6503	SO:0001631	upstream_gene_variant	347902	exon2			CCCCTCGTGGACT	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471287G>A	Exception_encountered	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	130	56	0.430769	NM_181847	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126383	0.37533	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.09	5.09	0.68999	.	0.380800	0.28647	N	0.014620	T	0.40839	0.1133	L	0.44542	1.39	0.25929	N	0.983015	P	0.47910	0.902	B	0.36666	0.23	T	0.47209	-0.9135	10	0.51188	T	0.08	-0.3923	18.3695	0.90402	0.0:0.0:1.0:0.0	.	500	Q86SJ2	AMGO2_HUMAN	M	500	ENSP00000266581:T500M;ENSP00000449034:T500M;ENSP00000406020:T500M;ENSP00000320848:T500M	ENSP00000266581:T500M	T	-	2	0	AMIGO2	45757554	0.970000	0.33590	0.047000	0.18901	0.988000	0.76386	4.115000	0.57865	2.745000	0.94114	0.561000	0.74099	ACG	.	.	none		0.468	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		A	47471287	G	A	47471287	1	1	23	0	1	0	0	0	0	0	0	0	576	1145	40	1		1	AMIGO2	12	47471287	5'Flank	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2026861	47471287	86380608	3031	19487										
PFKM	5213	hgsc.bcm.edu	37	chr12	48539482	48539482	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaagcggtccggggaagcTgccgtctaaacctctctgga	14	12	2	0	rs8716	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:48539482T>G	ENST00000312352.7	+	23	2373	c.2334T>G	c.(2332-2334)gcT>gcG	p.A778A	PFKM_ENST00000359794.5_Silent_p.A778A|PFKM_ENST00000547587.1_Silent_p.A778A|PFKM_ENST00000395233.2_Silent_p.A747A|PFKM_ENST00000340802.6_Silent_p.A849A|PFKM_ENST00000551804.1_Silent_p.A747A	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	778	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCGGGGAAGCTGCCGTCTAAA	0.502													T|||	1023	0.204273	0.1051	0.2089	5008	,	,		18791	0.0139		0.3877	False		,,,				2504	0.3425				p.A849A		Atlas-SNP	.											.	PFKM	117	.	0			c.T2547G						PASS	.	T	,,,	555,3851	248.7+/-256.4	35,485,1683	82	73	76		2334,2547,2334,2334	-9	0	12	dbSNP_52	76	3249,5351	489.4+/-372.6	598,2053,1649	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PFKM	NM_000289.5,NM_001166686.1,NM_001166687.1,NM_001166688.1	,,,	633,2538,3332	GG,GT,TT		37.7791,12.5965,29.248	,,,	778/781,849/852,778/781,778/781	48539482	3804,9202	2203	4300	6503	SO:0001819	synonymous_variant	5213	exon25			GGAAGCTGCCGTC	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2334T>G	12.37:g.48539482T>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	79	78	0.987342	NM_001166686	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	CCDS8760.1																																																																																			T|0.746;G|0.254	0.254	strong		0.502	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		G	48539482	T	G	48539482	2	3	23	1	0	0	0	0	0	0	0	1	11765	1567	55	5		5	PFKM	12	48539482	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1068195	48539482	85312413	3032	19488										
H1FNT	341567	hgsc.bcm.edu	37	chr12	48723324	48723324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctctcaagaaggagctcCgaaacgccggctacgaagtg	12	12	1	1	rs2732441	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:48723324C>G	ENST00000335017.1	+	1	562	c.250C>G	c.(250-252)Cga>Gga	p.R84G		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	84			R -> G (in a Japanese man; dbSNP:rs2732441). {ECO:0000269|PubMed:16533358}.		chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GAAGGAGCTCCGAAACGCCGG	0.672													G|||	861	0.171925	0.0272	0.1859	5008	,	,		13258	0.0159		0.326	False		,,,				2504	0.3599				p.R84G		Atlas-SNP	.											H1FNT,NS,carcinoma,0,2	H1FNT	30	2	0			c.C250G						PASS	.	G	GLY/ARG	288,4114	782.4+/-414.6	13,262,1926	31	34	33		250	3.4	0	12	dbSNP_100	33	2894,5704	655.6+/-401.3	479,1936,1884	yes	missense	H1FNT	NM_181788.1	125	492,2198,3810	GG,GC,CC		33.659,6.5425,24.4769	benign	84/256	48723324	3182,9818	2201	4299	6500	SO:0001583	missense	341567	exon1			GAGCTCCGAAACG	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.250C>G	12.37:g.48723324C>G	ENSP00000334805:p.Arg84Gly	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	80	77	0.9625	NM_181788	Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	CCDS8762.1	344	0.1575091575091575	17	0.034552845528455285	76	0.20994475138121546	5	0.008741258741258742	246	0.3245382585751979	G	0.022	-1.418303	0.01136	0.065425	0.33659	ENSG00000187166	ENST00000335017	T	0.15139	2.45	5.39	3.44	0.39384	.	.	.	.	.	T	0.00012	0.0000	N	0.00321	-1.65	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46400	-0.9194	8	0.02654	T	1	-8.0021	8.9868	0.35999	0.0794:0.2792:0.6414:0.0	rs2732441;rs2732441	84	Q75WM6	H1FNT_HUMAN	G	84	ENSP00000334805:R84G	ENSP00000334805:R84G	R	+	1	2	H1FNT	47009591	0.634000	0.27190	0.017000	0.16124	0.415000	0.31203	1.831000	0.39141	0.669000	0.31146	-0.127000	0.14921	CGA	C|0.798;G|0.202	0.202	strong		0.672	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		G	48723324	C	G	48723324	3	3	23	1	0	0	0	0	1	0	0	0	6921	644	23	4	252	4	H1FNT	12	48723324	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	183842	48723324	85128571	3033	19489										
ZNF641	121274	hgsc.bcm.edu	37	chr12	48736985	48736985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggcactggtggggcacgcTgccgtttccttgtgccaggg	16	11	0	0	rs2732481	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:48736985T>G	ENST00000544117.2	-	6	1796	c.1088A>C	c.(1087-1089)cAg>cCg	p.Q363P	ZNF641_ENST00000301042.3_Missense_Mutation_p.Q363P|ZNF641_ENST00000448928.3_Missense_Mutation_p.Q340P|ZNF641_ENST00000547026.1_Missense_Mutation_p.Q349P			Q96N77	ZN641_HUMAN	zinc finger protein 641	363			Q -> P (in dbSNP:rs2732481). {ECO:0000269|PubMed:17974005}.		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGGGGCACGCTGCCGTTTCCT	0.587													T|||	845	0.16873	0.0189	0.1859	5008	,	,		20204	0.0109		0.325	False		,,,				2504	0.3609				p.Q363P		Atlas-SNP	.											.	ZNF641	28	.	0			c.A1088C						PASS	.	T	PRO/GLN,PRO/GLN,PRO/GLN	275,4131	153.7+/-187.2	12,251,1940	96	85	89		1046,1019,1088	3	1	12	dbSNP_100	89	2909,5691	456.3+/-364.0	482,1945,1873	yes	missense,missense,missense	ZNF641	NM_001172681.1,NM_001172682.1,NM_152320.2	76,76,76	494,2196,3813	GG,GT,TT		33.8256,6.2415,24.481	benign,benign,benign	349/425,340/416,363/439	48736985	3184,9822	2203	4300	6503	SO:0001583	missense	121274	exon7			GCACGCTGCCGTT	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1088A>C	12.37:g.48736985T>G	ENSP00000437832:p.Gln363Pro	Somatic	215	1	0.00465116		WXS	Illumina HiSeq	Phase_I	219	218	0.995434	NM_152320	B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	338	0.15476190476190477	14	0.028455284552845527	76	0.20994475138121546	3	0.005244755244755245	245	0.3232189973614776	T	14.30	2.493219	0.44352	0.062415	0.338256	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.07444	3.3;3.3;3.19;3.28	5.47	3.04	0.35103	.	0.212636	0.33650	N	0.004693	T	0.00012	0.0000	M	0.79343	2.45	0.58432	P	1.0000000000287557E-6	B;B	0.33073	0.396;0.261	B;B	0.31614	0.133;0.064	T	0.46428	-0.9192	9	0.87932	D	0	.	3.6945	0.08358	0.0:0.1735:0.1975:0.6289	rs2732481;rs52811983;rs58167054;rs2732481	340;363	B4DNU5;Q96N77	.;ZN641_HUMAN	P	363;363;340;349	ENSP00000301042:Q363P;ENSP00000437832:Q363P;ENSP00000394627:Q340P;ENSP00000449974:Q349P	ENSP00000301042:Q363P	Q	-	2	0	ZNF641	47023252	0.124000	0.22315	0.995000	0.50966	0.929000	0.56500	0.062000	0.14389	2.191000	0.70037	0.533000	0.62120	CAG	T|0.801;G|0.199	0.199	strong		0.587	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		G	48736985	T	G	48736985	3	3	23	1	0	0	0	0	1	0	0	0	18054	1580	55	5	232	5	ZNF641	12	48736985	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	13661	48736985	85114910	3034	19490										
C12orf41	54934	hgsc.bcm.edu	37	chr12	49061511	49061511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtcattggaagagactgaTtggaacaacgaacatcatcc	10	8	2	2	rs17238800	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:49061511T>C	ENST00000420613.2	-	7	985	c.938A>G	c.(937-939)aAt>aGt	p.N313S	SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000553086.1_Missense_Mutation_p.N313S|KANSL2_ENST00000357861.3_Missense_Mutation_p.N118S|KANSL2_ENST00000550347.1_Missense_Mutation_p.N496S	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	313			N -> S (in dbSNP:rs17238800). {ECO:0000269|PubMed:15489334}.		chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AAGAGACTGATTGGAACAACG	0.448													T|||	42	0.00838658	0.0	0.0159	5008	,	,		19093	0.0		0.0189	False		,,,				2504	0.0123				p.N313S		Atlas-SNP	.											.	.	.	.	0			c.A938G						PASS	.	T	SER/ASN	12,3964		0,12,1976	170	164	166		938	5.7	1	12	dbSNP_123	166	200,8116		2,196,3960	yes	missense	C12orf41	NM_017822.3	46	2,208,5936	CC,CT,TT		2.405,0.3018,1.7247	benign	313/493	49061511	212,12080	1988	4158	6146	SO:0001583	missense	54934	exon7			GACTGATTGGAAC	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.938A>G	12.37:g.49061511T>C	ENSP00000415436:p.Asn313Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	84	44	0.52381	NM_017822	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	28	0.01282051282051282	0	0.0	11	0.03038674033149171	0	0.0	17	0.022427440633245383	T	21.1	4.103553	0.76983	0.003018	0.02405	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086;ENST00000357861	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.68	5.68	0.88126	.	0.042292	0.85682	D	0.000000	T	0.31513	0.0799	L	0.45228	1.405	0.50813	D	0.999899	P;D;D;D	0.76494	0.952;0.984;0.999;0.974	P;P;D;P	0.73708	0.626;0.76;0.981;0.647	T	0.36261	-0.9755	10	0.39692	T	0.17	-29.266	15.2035	0.73159	0.0:0.0:0.0:1.0	rs17238800;rs17851070;rs52828281;rs17238800	496;313;118;313	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8	.;CL041_HUMAN;.;.	S	496;313;61;313;118	ENSP00000449747:N496S;ENSP00000415436:N313S;ENSP00000447608:N61S;ENSP00000448833:N313S;ENSP00000350527:N118S	ENSP00000350527:N118S	N	-	2	0	C12orf41	47347778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	2.289000	0.77006	0.460000	0.39030	AAT	T|0.984;C|0.016	0.016	strong		0.448	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		C	49061511	T	C	49061511	3	2	23	1	0	0	0	0	1	0	0	0	1687	1493	52	2	556	2	C12orf41	12	49061511	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	324526	49061511	84790384	3035	19491										
ARF3	377	hgsc.bcm.edu	37	chr12	49333799	49333799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttgggtgttctggaagtaGtgtctccagaggggtcgaat	15	7	2	1	rs2228417	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:49333799G>A	ENST00000256682.4	-	3	574	c.240C>T	c.(238-240)caC>caT	p.H80H	ARF3_ENST00000541959.1_Silent_p.H80H|AC073610.5_ENST00000537495.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Silent_p.H80H|ARF3_ENST00000447318.2_Intron|ARF3_ENST00000541967.1_5'Flank	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	80					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						TCTGGAAGTAGTGTCTCCAGA	0.507													G|||	310	0.061901	0.0098	0.0288	5008	,	,		20342	0.004		0.0696	False		,,,				2504	0.2076				p.H80H	Pancreas(189;1862 2134 4419 30933 49364)	Atlas-SNP	.											.	ARF3	11	.	0			c.C240T						PASS	.	G		52,4354	54.2+/-90.2	0,52,2151	174	136	149		240	2.7	1	12	dbSNP_98	149	614,7986	160.3+/-213.4	23,568,3709	no	coding-synonymous	ARF3	NM_001659.2		23,620,5860	AA,AG,GG		7.1395,1.1802,5.1207		80/182	49333799	666,12340	2203	4300	6503	SO:0001819	synonymous_variant	377	exon3			GAAGTAGTGTCTC	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.240C>T	12.37:g.49333799G>A		Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	205	107	0.521951	NM_001659	A8K6G8|B7ZB63|P16587	Silent	SNP	ENST00000256682.4	37	CCDS8774.1																																																																																			G|0.954;A|0.046	0.046	strong		0.507	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		A	49333799	G	A	49333799	2	1	23	1	0	0	0	0	0	0	0	1	845	1020	36	2		2	ARF3	12	49333799	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	272288	49333799	84518096	3036	19492										
MLL2	8085	hgsc.bcm.edu	37	chr12	49445028	49445028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcacaggagacaggtgcGgctcctcagtctggggggac	17	11	2	1	rs75226229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:49445028G>A	ENST00000301067.7	-	10	2437	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	813	Pro-rich.		P -> L (in dbSNP:rs75226229). {ECO:0000269|PubMed:21280141}.	Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGACAGGTGCGGCTCCTCAGT	0.647													G|||	80	0.0159744	0.0023	0.0274	5008	,	,		15268	0.0		0.0487	False		,,,				2504	0.0092				p.P813L		Atlas-SNP	.											.	MLL2	1173	.	0			c.C2438T						PASS	.	G	LEU/PRO	45,3979		0,45,1967	36	40	38		2438	-1.4	0	12	dbSNP_132	38	424,7814		15,394,3710	yes	missense	MLL2	NM_003482.3	98	15,439,5677	AA,AG,GG		5.1469,1.1183,3.8248	probably-damaging	813/5538	49445028	469,11793	2012	4119	6131	SO:0001583	missense	8085	exon10			AGGTGCGGCTCCT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2438C>T	12.37:g.49445028G>A	ENSP00000301067:p.Pro813Leu	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	174	81	0.465517	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	56	0.02564102564102564	1	0.0020325203252032522	12	0.03314917127071823	0	0.0	43	0.05672823218997362	G	5.855	0.341913	0.11069	0.011183	0.051469	ENSG00000167548	ENST00000301067	T	0.33216	1.42	3.68	-1.4	0.08968	.	.	.	.	.	T	0.01189	0.0039	N	0.02539	-0.55	0.21386	N	0.999707	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	9	0.87932	D	0	.	8.578	0.33609	0.6006:0.0:0.3994:0.0	.	813	O14686	MLL2_HUMAN	L	813	ENSP00000301067:P813L	ENSP00000301067:P813L	P	-	2	0	MLL2	47731295	0.000000	0.05858	0.028000	0.17463	0.009000	0.06853	-0.587000	0.05780	-0.301000	0.08882	-0.972000	0.02603	CCG	G|0.971;A|0.029	0.029	strong		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49445028	G	A	49445028	3	1	23	1	0	0	0	0	1	0	0	0	9621	1116	39	1	14355	1	MLL2	12	49445028	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	111229	49445028	84406867	3037	19493										
TUBA1C	84790	hgsc.bcm.edu	37	chr12	49663751	49663751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctcgtgttggaccgaattCgcaagctggtaagtatagta	11	8	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:49663751C>T	ENST00000301072.6	+	3	642	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TUBA1C_ENST00000541364.1_Missense_Mutation_p.R193C|TUBA1C_ENST00000549183.1_Missense_Mutation_p.R123C|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	123					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GGACCGAATTCGCAAGCTGGT	0.428																																					p.R123C		Atlas-SNP	.											TUBA1C,NS,carcinoma,0,1	TUBA1C	32	1	0			c.C367T						scavenged	.						155	149	151					12																	49663751		2203	4300	6503	SO:0001583	missense	84790	exon3			CGAATTCGCAAGC	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.367C>T	12.37:g.49663751C>T	ENSP00000301072:p.Arg123Cys	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	218	3	0.0137615	NM_032704		Missense_Mutation	SNP	ENST00000301072.6	37	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141023	0.56936	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000549183;ENST00000321665	T;T;T	0.73789	-0.78;-0.78;-0.78	3.99	3.99	0.46301	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	H	0.98218	4.175	0.58432	D	0.999995	D;D	0.89917	1.0;0.995	D;P	0.71414	0.973;0.763	D	0.92198	0.5765	10	0.72032	D	0.01	.	11.6145	0.51080	0.1786:0.8214:0.0:0.0	.	193;123	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	C	193;123;123;123	ENSP00000443475:R193C;ENSP00000301072:R123C;ENSP00000448211:R123C	ENSP00000301072:R123C	R	+	1	0	TUBA1C	47950018	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.686000	0.54685	2.504000	0.84457	0.455000	0.32223	CGC	.	.	none		0.428	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		T	49663751	C	T	49663751	3	4	23	1	0	0	0	0	1	0	0	0	16742	884	31	1	377	1	TUBA1C	12	49663751	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	218723	49663751	84188144	3038	19494										
KCNH3	23416	hgsc.bcm.edu	37	chr12	49951528	49951528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctctgagcccagcacccCtgcctcccctcctccttctg	6	22	2	1	rs144397719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:49951528C>T	ENST00000257981.6	+	15	3304	c.3044C>T	c.(3043-3045)cCt>cTt	p.P1015L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1015	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCAGCACCCCTGCCTCCCCT	0.662													C|||	37	0.00738818	0.0023	0.0159	5008	,	,		17441	0.0		0.0159	False		,,,				2504	0.0072				p.P1015L		Atlas-SNP	.											.	KCNH3	88	.	0			c.C3044T						PASS	.	C	LEU/PRO	30,4376	32.6+/-62.9	0,30,2173	32	33	33		3044	4.1	0.9	12	dbSNP_134	33	293,8307	104.4+/-165.4	6,281,4013	yes	missense	KCNH3	NM_012284.1	98	6,311,6186	TT,TC,CC		3.407,0.6809,2.4835	probably-damaging	1015/1084	49951528	323,12683	2203	4300	6503	SO:0001583	missense	23416	exon15			GCACCCCTGCCTC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.3044C>T	12.37:g.49951528C>T	ENSP00000257981:p.Pro1015Leu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_012284	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	25	0.011446886446886446	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	15	0.01978891820580475	C	13.07	2.127869	0.37533	0.006809	0.03407	ENSG00000135519	ENST00000257981	D	0.98777	-5.13	5.02	4.12	0.48240	.	0.000000	0.41396	D	0.000899	D	0.86851	0.6032	N	0.08118	0	0.80722	D	1	B	0.27498	0.18	B	0.19391	0.025	D	0.87871	0.2671	10	0.37606	T	0.19	.	11.2615	0.49085	0.0:0.8159:0.1841:0.0	.	1015	Q9ULD8	KCNH3_HUMAN	L	1015	ENSP00000257981:P1015L	ENSP00000257981:P1015L	P	+	2	0	KCNH3	48237795	0.397000	0.25270	0.941000	0.38009	0.990000	0.78478	3.676000	0.54612	1.319000	0.45190	0.561000	0.74099	CCT	C|0.982;T|0.018	0.018	strong		0.662	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		T	49951528	C	T	49951528	3	4	23	1	0	0	0	0	1	0	0	0	8033	681	24	2	3102	2	KCNH3	12	49951528	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	287777	49951528	83900367	3039	19495										
CELA1	1990	hgsc.bcm.edu	37	chr12	51737562	51737562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgcagtgagcagctgtcaTcacccagttctgtctgataa	9	12	4	2	rs17860300	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:51737562T>C	ENST00000293636.1	-	3	215	c.175A>G	c.(175-177)Atg>Gtg	p.M59V		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		M -> V (in dbSNP:rs17860300).		exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GCAGCTGTCATCACCCAGTTC	0.507													T|||	720	0.14377	0.0809	0.1772	5008	,	,		19403	0.0417		0.2873	False		,,,				2504	0.1626				p.M59V		Atlas-SNP	.											CELA1,NS,carcinoma,+2,1	CELA1	39	1	0			c.A175G						scavenged	.	T	VAL/MET	524,3882	237.1+/-249.0	26,472,1705	59	50	53		175	-0.8	1	12	dbSNP_123	53	2666,5934	425.1+/-354.9	418,1830,2052	yes	missense	CELA1	NM_001971.5	21	444,2302,3757	CC,CT,TT		31.0,11.8929,24.5271	benign	59/259	51737562	3190,9816	2203	4300	6503	SO:0001583	missense	1990	exon3			CTGTCATCACCCA		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.175A>G	12.37:g.51737562T>C	ENSP00000293636:p.Met59Val	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	137	53	0.386861	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	CCDS8812.1	328	0.15018315018315018	42	0.08536585365853659	69	0.19060773480662985	19	0.033216783216783216	198	0.2612137203166227	T	12.72	2.021611	0.35701	0.118929	0.31	ENSG00000139610	ENST00000293636	D	0.91945	-2.94	5.03	-0.799	0.10901	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.246105	0.43260	N	0.000592	T	0.00012	0.0000	N	0.01686	-0.76	0.26678	P	0.9715944	B	0.14805	0.011	B	0.19148	0.024	T	0.15723	-1.0427	9	0.15066	T	0.55	-12.8783	3.4045	0.07336	0.1286:0.0785:0.3914:0.4014	rs17860300	59	Q9UNI1	CELA1_HUMAN	V	59	ENSP00000293636:M59V	ENSP00000293636:M59V	M	-	1	0	CELA1	50023829	0.027000	0.19231	0.998000	0.56505	0.995000	0.86356	-0.007000	0.12810	0.013000	0.14918	0.523000	0.50628	ATG	T|0.788;C|0.212	0.212	strong		0.507	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		C	51737562	T	C	51737562	3	2	23	1	0	0	0	0	1	0	0	0	3210	1435	50	2	625	2	CELA1	12	51737562	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1786034	51737562	82114333	3040	19496										
CELA1	1990	hgsc.bcm.edu	37	chr12	51739625	51739625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcagtccctccgactacgCgggcattggtttccggaagg	12	14	1	0	rs74336876	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:51739625C>T	ENST00000293636.1	-	2	93	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	18					exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCCGACTACGCGGGCATTGGT	0.592													C|||	14	0.00279553	0.0	0.0043	5008	,	,		15127	0.0		0.0089	False		,,,				2504	0.002				p.R18H		Atlas-SNP	.											.	CELA1	39	.	0			c.G53A						PASS	.	C	HIS/ARG	12,4382		0,12,2185	58	52	54		53	5	1	12	dbSNP_131	54	66,8516		0,66,4225	yes	missense	CELA1	NM_001971.5	29	0,78,6410	TT,TC,CC		0.7691,0.2731,0.6011	probably-damaging	18/259	51739625	78,12898	2197	4291	6488	SO:0001583	missense	1990	exon2			ACTACGCGGGCAT		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.53G>A	12.37:g.51739625C>T	ENSP00000293636:p.Arg18His	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	53	26	0.490566	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	CCDS8812.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	27.9	4.875832	0.91664	0.002731	0.007691	ENSG00000139610	ENST00000293636	D	0.94966	-3.57	5.03	5.03	0.67393	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95423	0.8509	10	0.87932	D	0	-29.8305	17.5406	0.87846	0.0:1.0:0.0:0.0	.	18	Q9UNI1	CELA1_HUMAN	H	18	ENSP00000293636:R18H	ENSP00000293636:R18H	R	-	2	0	CELA1	50025892	0.999000	0.42202	0.998000	0.56505	0.793000	0.44817	6.004000	0.70709	2.503000	0.84419	0.563000	0.77884	CGC	C|0.995;T|0.005	0.005	strong		0.592	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		T	51739625	C	T	51739625	3	4	23	1	0	0	0	0	1	0	0	0	3210	768	27	1	751	1	CELA1	12	51739625	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2063	51739625	82112270	3041	19497										
CELA1	1990	hgsc.bcm.edu	37	chr12	51740388	51740416	+	Splice_Site	DEL	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaaggaccagggttgcgaCtggaccatatccacttacca					rs150350903|rs573952082|rs532961697|rs141305161|rs117443541|rs377599213|rs143199509|rs61761206|rs3059200|rs148235680|rs370927847|rs907354|rs148270827|rs116944010|rs57614420|rs386762976|rs55827519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:51740388_51740416delCTGGACCATATCCACTTACCATAAAGGAC	ENST00000293636.1	-	1	47_57	c.7_17delGTCCTTTATGGTAAGTGGATATGGTCCAG	c.(7-18)gtcctttatggt>t	p.VLYG3fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	3					exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V3fs*21(1)|p.L4P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AGGGTTGCGACTGGACCATATCCACTTACCATAAAGGACCAGCATGTTG	0.511																																					p.3_6del		Pindel	.											.	CELA1	39	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.8_16del						PASS	.																																			SO:0001630	splice_region_variant	1990	exon1			.		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.16+1GTCCTTTATGGTAAGTGGATATGGTCCAG>-	12.37:g.51740388_51740416delCTGGACCATATCCACTTACCATAAAGGAC		Somatic	204	.	.		WXS	Illumina HiSeq	Phase_I	138	21	0.152	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	In_Frame_Del	DEL	ENST00000293636.1	37	CCDS8812.1																																																																																			-|0.574;CACCAGGAAGCG|0.426	0.574	alt		0.511	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	Frame_Shift_Del	-	51740416	CTGGACCATATCCACTTACCATAAAGGAC	-	51740388	8	5	23	1	0	1	0	1	0	0	1	0	3210	580	20	0		0	CELA1	12	51740388	Splice_Site	DEL	CTGGACCATATCCACTTACCATAAAGGAC	TCGA-GR-7353-01A-11D-2210-10	763	51740388	82111507	3042	19498										
GALNT6	11226	hgsc.bcm.edu	37	chr12	51771040	51771040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatggcaggggtggtgtgTaggacgctgtacactgttcg	17	6	0	1	rs2277379	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:51771040T>C	ENST00000543196.2	-	3	808	c.603A>G	c.(601-603)ctA>ctG	p.L201L	GALNT6_ENST00000356317.3_Silent_p.L201L|GALNT6_ENST00000603203.1_5'Flank			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGTGGTGTGTAGGACGCTGT	0.617													T|||	538	0.107428	0.0469	0.1585	5008	,	,		19747	0.1726		0.0497	False		,,,				2504	0.1452				p.L201L		Atlas-SNP	.											.	GALNT6	63	.	0			c.A603G						PASS	.	T		208,4198	127.4+/-164.3	7,194,2002	139	108	118		603	-7.9	0.5	12	dbSNP_100	118	338,8262	116.8+/-176.5	5,328,3967	no	coding-synonymous	GALNT6	NM_007210.3		12,522,5969	CC,CT,TT		3.9302,4.7208,4.1981		201/623	51771040	546,12460	2203	4300	6503	SO:0001819	synonymous_variant	11226	exon4			GGTGTGTAGGACG	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.603A>G	12.37:g.51771040T>C		Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	246	129	0.52439	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																			T|0.930;C|0.070	0.070	strong		0.617	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		C	51771040	T	C	51771040	2	2	23	1	0	0	0	0	0	0	0	1	6217	1625	57	2		2	GALNT6	12	51771040	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30652	51771040	82080855	3043	19499										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52282060	52282060	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacccagtgattgtgctccgCggagcctgggctgtgccccg	15	14	0	1	rs697634	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52282060C>T	ENST00000340970.4	+	0	60				ANKRD33_ENST00000301190.6_Silent_p.R30R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTGTGCTCCGCGGAGCCTGGG	0.567													C|||	1661	0.331669	0.149	0.451	5008	,	,		16569	0.4117		0.2952	False		,,,				2504	0.4489				p.R30R		Atlas-SNP	.											.	ANKRD33	33	.	0			c.C90T						PASS	.	C	,	681,3725	287.2+/-279.2	55,571,1577	101	93	95		,90	-4.7	0	12	dbSNP_86	95	2676,5924	429.8+/-356.3	396,1884,2020	no	utr-5,coding-synonymous	ANKRD33	NM_001130015.1,NM_182608.3	,	451,2455,3597	TT,TC,CC		31.1163,15.4562,25.8112	,	,30/453	52282060	3357,9649	2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405	exon1			GCTCCGCGGAGCC		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-312C>T	12.37:g.52282060C>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	142	67	0.471831	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	CCDS44892.1																																																																																			C|0.719;T|0.281	0.281	strong		0.567	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52282060	C	T	52282060	1	4	23	0	1	0	0	0	0	0	0	0	661	755	27	1		1	ANKRD33	12	52282060	5'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	511020	52282060	81569835	3044	19500										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52284500	52284500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaagtggagcagcttagccAgcactacaagcccgagtggc	12	13	0	0	rs34494292	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52284500A>G	ENST00000340970.4	+	5	766	c.395A>G	c.(394-396)cAg>cGg	p.Q132R	ANKRD33_ENST00000301190.6_Missense_Mutation_p.Q257R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.Q63R			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	132			Q -> R (in dbSNP:rs34494292). {ECO:0000269|PubMed:14702039}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAGCTTAGCCAGCACTACAAG	0.672													A|||	746	0.148962	0.0318	0.134	5008	,	,		13096	0.2063		0.1918	False		,,,				2504	0.2147				p.Q257R		Atlas-SNP	.											.	ANKRD33	33	.	0			c.A770G						PASS	.	A	ARG/GLN,ARG/GLN	278,4128	142.7+/-177.9	6,266,1931	24	26	25		395,770	-0.6	0.2	12	dbSNP_126	25	1751,6849	290.5+/-299.9	193,1365,2742	yes	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	43,43	199,1631,4673	GG,GA,AA		20.3605,6.3096,15.6005	possibly-damaging,possibly-damaging	132/273,257/453	52284500	2029,10977	2203	4300	6503	SO:0001583	missense	341405	exon5			TTAGCCAGCACTA		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.395A>G	12.37:g.52284500A>G	ENSP00000344690:p.Gln132Arg	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	27	26	0.962963	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	340	0.15567765567765568	23	0.046747967479674794	50	0.13812154696132597	126	0.2202797202797203	141	0.18601583113456466	A	11.27	1.588295	0.28357	0.063096	0.203605	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.22539	2.09;1.95;2.4	4.7	-0.552	0.11818	.	0.858027	0.10348	N	0.685403	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;P;B	0.38370	0.146;0.628;0.003	B;B;B	0.28465	0.024;0.09;0.003	T	0.35968	-0.9767	9	0.15066	T	0.55	-3.0E-4	3.2663	0.06867	0.529:0.0:0.1748:0.2962	rs34494292	132;63;257	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	R	257;63;132	ENSP00000301190:Q257R;ENSP00000443722:Q63R;ENSP00000344690:Q132R	ENSP00000301190:Q257R	Q	+	2	0	ANKRD33	50570767	0.000000	0.05858	0.201000	0.23476	0.720000	0.41350	0.671000	0.25172	0.026000	0.15269	0.459000	0.35465	CAG	A|0.845;G|0.155	0.155	strong		0.672	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		G	52284500	A	G	52284500	3	3	23	1	0	0	0	0	1	0	0	0	661	188	7	3	818	3	ANKRD33	12	52284500	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2440	52284500	81567395	3045	19501										
ANKRD33	341405	hgsc.bcm.edu	37	chr12	52285086	52285086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggccagaatggcacagaaGtaggggaagatgggatagga	18	4	0	3	rs3180417	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52285086G>A	ENST00000340970.4	+	6	1152	c.781G>A	c.(781-783)Gta>Ata	p.V261I	ANKRD33_ENST00000301190.6_Silent_p.K452K|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.V192I			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	261			V -> I (in dbSNP:rs3180417).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGGCACAGAAGTAGGGGAAGA	0.587													G|||	736	0.146965	0.0318	0.134	5008	,	,		16957	0.2004		0.1918	False		,,,				2504	0.2106				p.V261I		Atlas-SNP	.											.	ANKRD33	33	.	0			c.G781A						PASS	.	G	ILE/VAL,	280,4126	143.5+/-178.5	7,266,1930	24	24	24		781,1356	-6.6	0	12	dbSNP_105	24	1745,6855	288.4+/-298.7	194,1357,2749	yes	missense,coding-synonymous	ANKRD33	NM_001130015.1,NM_182608.3	29,	201,1623,4679	AA,AG,GG		20.2907,6.355,15.5697	,	261/273,452/453	52285086	2025,10981	2203	4300	6503	SO:0001583	missense	341405	exon6			ACAGAAGTAGGGG		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.781G>A	12.37:g.52285086G>A	ENSP00000344690:p.Val261Ile	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	48	45	0.9375	NM_001130015	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	337	0.1543040293040293	24	0.04878048780487805	49	0.13535911602209943	122	0.21328671328671328	142	0.18733509234828497	G	16.88	3.245934	0.59103	0.06355	0.202907	ENSG00000167612	ENST00000538991;ENST00000340970	T;T	0.23950	1.88;2.32	4.32	-6.62	0.01813	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.15141	0.012	B	0.12156	0.007	T	0.38714	-0.9648	7	0.51188	T	0.08	-3.4072	7.0794	0.25223	0.0:0.231:0.3937:0.3752	rs3180417;rs17644218;rs57954374;rs3180417	261	Q7Z3H0	ANR33_HUMAN	I	192;261	ENSP00000443722:V192I;ENSP00000344690:V261I	ENSP00000344690:V261I	V	+	1	0	ANKRD33	50571353	0.000000	0.05858	0.000000	0.03702	0.743000	0.42351	-1.473000	0.02339	-1.026000	0.03330	0.313000	0.20887	GTA	G|0.851;A|0.149	0.149	strong		0.587	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		A	52285086	G	A	52285086	3	1	23	1	0	0	0	0	1	0	0	0	661	1029	36	2	1404	2	ANKRD33	12	52285086	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	586	52285086	81566809	3046	19502										
KRT80	144501	hgsc.bcm.edu	37	chr12	52579294	52579294	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatagagatgcccgaggtcGaagatggctgagtcctggcc	14	10	1	3	rs17704675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52579294G>A	ENST00000394815.2	-	2	475	c.378C>T	c.(376-378)ttC>ttT	p.F126F	KRT80_ENST00000313234.5_Silent_p.F126F	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	126	Linker 1.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCCCGAGGTCGAAGATGGCTG	0.642													G|||	248	0.0495208	0.0666	0.0648	5008	,	,		17453	0.0		0.1083	False		,,,				2504	0.0061				p.F126F	GBM(178;2309 2916 15678 35873)	Atlas-SNP	.											.	KRT80	68	.	0			c.C378T						PASS	.	G	,	351,4055	180.1+/-208.5	12,327,1864	53	52	52		378,378	-0.7	0	12	dbSNP_123	52	861,7739	195.6+/-240.8	43,775,3482	no	coding-synonymous,coding-synonymous	KRT80	NM_001081492.1,NM_182507.2	,	55,1102,5346	AA,AG,GG		10.0116,7.9664,9.3188	,	126/423,126/453	52579294	1212,11794	2203	4300	6503	SO:0001819	synonymous_variant	144501	exon2			GAGGTCGAAGATG	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.378C>T	12.37:g.52579294G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	35	35	1	NM_182507	Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	CCDS8821.2																																																																																			G|0.920;A|0.080	0.080	strong		0.642	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		A	52579294	G	A	52579294	2	1	23	1	0	0	0	0	0	0	0	1	8494	1049	37	1		1	KRT80	12	52579294	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	294208	52579294	81272601	3047	19503										
KRT7	3855	hgsc.bcm.edu	37	chr12	52635360	52635360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcatcgctgaggtcaaggcGcagtatgaggagatggccaa	14	8	2	3	rs999665	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52635360G>A	ENST00000331817.5	+	5	981	c.798G>A	c.(796-798)gcG>gcA	p.A266A		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	266	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A266A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGGTCAAGGCGCAGTATGAGG	0.602													G|||	2122	0.423722	0.3714	0.4366	5008	,	,		20705	0.3145		0.5378	False		,,,				2504	0.4806				p.A266A		Atlas-SNP	.											KRT7,NS,carcinoma,0,1	KRT7	48	1	1	Substitution - coding silent(1)	stomach(1)	c.G798A						PASS	.	G		1871,2535	540.8+/-375.6	387,1097,719	91	81	85		798	-0.1	0.7	12	dbSNP_86	85	4739,3861	608.7+/-395.4	1285,2169,846	no	coding-synonymous	KRT7	NM_005556.3		1672,3266,1565	AA,AG,GG		44.8953,42.4648,49.1773		266/470	52635360	6610,6396	2203	4300	6503	SO:0001819	synonymous_variant	3855	exon5			CAAGGCGCAGTAT		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.798G>A	12.37:g.52635360G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	113	111	0.982301	NM_005556	Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	CCDS8822.1																																																																																			G|0.514;A|0.486	0.486	strong		0.602	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		A	52635360	G	A	52635360	2	1	23	1	0	0	0	0	0	0	0	1	8483	1074	38	1		1	KRT7	12	52635360	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	56066	52635360	81216535	3048	19504										
KRT81	3887	hgsc.bcm.edu	37	chr12	52681056	52681056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcgggcatcactgagggcCgcctcaccctgctgctcaga	12	16	3	2	rs4761856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52681056C>T	ENST00000327741.5	-	7	1145	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	359	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTGAGGGCCGCCTCACCCT	0.617													.|||	1921	0.383586	0.2995	0.3602	5008	,	,		18024	0.5377		0.334	False		,,,				2504	0.4059				p.A359A		Atlas-SNP	.											.	KRT81	46	.	0			c.G1077A						PASS	.	C		1321,3085		225,871,1107	28	30	29	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1077	-4.9	0.9	12	dbSNP_111	29	2681,5909		411,1859,2025	no	coding-synonymous	KRT81	NM_002281.3		636,2730,3132	TT,TC,CC		31.2107,29.9818,30.7941		359/506	52681056	4002,8994	2203	4295	6498	SO:0001819	synonymous_variant	3887	exon7			GAGGGCCGCCTCA	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1077G>A	12.37:g.52681056C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	119	66	0.554622	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																			C|0.673;T|0.327	0.327	strong		0.617	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		T	52681056	C	T	52681056	2	4	23	1	0	0	0	0	0	0	0	1	8495	639	23	1		1	KRT81	12	52681056	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45696	52681056	81170839	3049	19505										
KRT81	3887	hgsc.bcm.edu	37	chr12	52681080	52681080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaccctgctgctcagactgGgccaccgcggcctccagctt	10	18	2	1	rs4761784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52681080G>A	ENST00000327741.5	-	7	1121	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	351	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCAGACTGGGCCACCGCGG	0.607													.|||	1476	0.294728	0.1082	0.3386	5008	,	,		18323	0.4296		0.332	False		,,,				2504	0.3384				p.A351A		Atlas-SNP	.											.	KRT81	46	.	0			c.C1053T						PASS	.	G		607,3799		60,487,1656	25	28	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1053	1	0.7	12	dbSNP_111	27	2649,5951		396,1857,2047	no	coding-synonymous	KRT81	NM_002281.3		456,2344,3703	AA,AG,GG		30.8023,13.7767,25.0346		351/506	52681080	3256,9750	2203	4300	6503	SO:0001819	synonymous_variant	3887	exon7			AGACTGGGCCACC	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1053C>T	12.37:g.52681080G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	122	67	0.54918	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																			G|0.744;A|0.256	0.256	strong		0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681080	G	A	52681080	2	1	23	1	0	0	0	0	0	0	0	1	8495	1219	43	2		2	KRT81	12	52681080	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24	52681080	81170815	3050	19506										
KRT84	3890	hgsc.bcm.edu	37	chr12	52774305	52774305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgccagcttgcatttggcAtcactgagggtcgcctcgcc	11	14	2	1	rs1732293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52774305A>G	ENST00000257951.3	-	7	1332	c.1266T>C	c.(1264-1266)gaT>gaC	p.D422D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	422	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCATTTGGCATCACTGAGGG	0.632											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1686	0.336661	0.6369	0.3184	5008	,	,		20415	0.2004		0.2068	False		,,,				2504	0.2178				p.D422D		Atlas-SNP	.											.	KRT84	61	.	0			c.T1266C						PASS	.	G		2537,1869	537.0+/-374.6	756,1025,422	46	38	41		1266	-10.1	0	12	dbSNP_89	41	1804,6796	726.4+/-406.6	180,1444,2676	no	coding-synonymous	KRT84	NM_033045.3		936,2469,3098	GG,GA,AA		20.9767,42.4194,33.3769		422/601	52774305	4341,8665	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon7			TTTGGCATCACTG	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1266T>C	12.37:g.52774305A>G		Somatic	127	0	0	987	WXS	Illumina HiSeq	Phase_I	117	55	0.470085	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.682;G|0.318	0.318	strong		0.632	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52774305	A	G	52774305	2	3	23	1	0	0	0	0	0	0	0	1	8498	214	8	2		2	KRT84	12	52774305	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	93225	52774305	81077590	3051	19507										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777439	52777439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctggagccgggcctgatcActgaccagcacctccaactg	11	16	1	2	rs1614888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52777439A>G	ENST00000257951.3	-	2	756	c.690T>C	c.(688-690)agT>agC	p.S230S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	230	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCTGATCACTGACCAGCA	0.557													a|||	1663	0.332069	0.6172	0.3199	5008	,	,		20368	0.1954		0.2058	False		,,,				2504	0.226				p.S230S		Atlas-SNP	.											.	KRT84	61	.	0			c.T690C						PASS	.	G		2467,1939	621.9+/-393.8	717,1033,453	70	67	68		690	-10.6	0	12	dbSNP_89	68	1804,6796	324.3+/-316.4	180,1444,2676	no	coding-synonymous	KRT84	NM_033045.3		897,2477,3129	GG,GA,AA		20.9767,44.0082,32.8387		230/601	52777439	4271,8735	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon2			CTGATCACTGACC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.690T>C	12.37:g.52777439A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	133	60	0.451128	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.686;G|0.314	0.314	strong		0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52777439	A	G	52777439	2	3	23	1	0	0	0	0	0	0	0	1	8498	156	6	2		2	KRT84	12	52777439	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3134	52777439	81074456	3052	19508										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777502	52777502	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcgaagagtggctccagAttgctcctgatacatttctg	9	11	2	3	rs1945297	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52777502A>G	ENST00000257951.3	-	2	693	c.627T>C	c.(625-627)aaT>aaC	p.N209N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	209	Linker 1.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGCTCCAGATTGCTCCTGA	0.552													G|||	2485	0.496206	0.6475	0.4798	5008	,	,		20714	0.6776		0.2584	False		,,,				2504	0.3609				p.N209N		Atlas-SNP	.											.	KRT84	61	.	0			c.T627C						PASS	.	G		2600,1806	530.4+/-372.9	791,1018,394	77	75	76		627	1.3	0.8	12	dbSNP_92	76	2317,6283	704.6+/-405.4	310,1697,2293	no	coding-synonymous	KRT84	NM_033045.3		1101,2715,2687	GG,GA,AA		26.9419,40.9896,37.8056		209/601	52777502	4917,8089	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon2			CTCCAGATTGCTC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.627T>C	12.37:g.52777502A>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	183	71	0.387978	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.586;G|0.414	0.414	strong		0.552	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52777502	A	G	52777502	2	3	23	1	0	0	0	0	0	0	0	1	8498	330	12	2		2	KRT84	12	52777502	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	63	52777502	81074393	3053	19509										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777513	52777513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctccagattgctcctgaTacatttctgctcttggagga	10	10	2	2	rs2245203	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52777513T>C	ENST00000257951.3	-	2	682	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	206	Linker 1.|Rod.		I -> V (in dbSNP:rs2245203).		hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCCTGATACATTTCTGC	0.537													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		21008	0.1954		0.2068	False		,,,				2504	0.226				p.I206V		Atlas-SNP	.											.	KRT84	61	.	0			c.A616G						PASS	.	C	VAL/ILE	2466,1940	551.8+/-378.4	717,1032,454	77	76	76		616	3.1	1	12	dbSNP_100	76	1804,6796	733.1+/-406.9	180,1444,2676	yes	missense	KRT84	NM_033045.3	29	897,2476,3130	CC,CT,TT		20.9767,44.0309,32.831	benign	206/601	52777513	4270,8736	2203	4300	6503	SO:0001583	missense	3890	exon2			TCCTGATACATTT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.616A>G	12.37:g.52777513T>C	ENSP00000257951:p.Ile206Val	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	186	73	0.392473	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	664	0.304029304029304	288	0.5853658536585366	100	0.27624309392265195	117	0.20454545454545456	159	0.20976253298153033	C	8.846	0.943350	0.18281	0.559691	0.209767	ENSG00000161849	ENST00000257951	D	0.88354	-2.37	5.32	3.07	0.35406	Filament (1);	0.423150	0.20341	N	0.094240	T	0.00012	0.0000	N	0.01515	-0.825	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.14656	T	0.56	.	9.4999	0.39011	0.0:0.735:0.0:0.265	rs2245203;rs58066728;rs2245203	206	Q9NSB2	KRT84_HUMAN	V	206	ENSP00000257951:I206V	ENSP00000257951:I206V	I	-	1	0	KRT84	51063780	0.006000	0.16342	0.989000	0.46669	0.760000	0.43138	0.122000	0.15687	0.440000	0.26502	-0.119000	0.15052	ATC	T|0.684;C|0.316	0.316	strong		0.537	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		C	52777513	T	C	52777513	3	2	23	1	0	0	0	0	1	0	0	0	8498	1406	49	2	1218	2	KRT84	12	52777513	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11	52777513	81074382	3054	19510										
KRT84	3890	hgsc.bcm.edu	37	chr12	52777578	52777578	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattctgctgctctaggaacCgaacctaaatccacagggca					rs386763043|rs1613931	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52777578C>T	ENST00000257951.3	-	2	617	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	184	Coil 1A.|Rod.		R -> Q (in dbSNP:rs1613931).		hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.R184L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTAGGAACCGAACCTAAAT	0.493													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		22846	0.1954		0.2068	False		,,,				2504	0.226				p.R184Q		Atlas-SNP	.											KRT84,colon,carcinoma,0,1	KRT84	61	1	1	Substitution - Missense(1)	large_intestine(1)	c.G551A						PASS	.	C	GLN/ARG	2138,2268		715,708,780	57	58	57		551	5.3	1	12	dbSNP_89	57	1299,7301		180,939,3181	yes	missense	KRT84	NM_033045.3	43	895,1647,3961	TT,TC,CC		15.1047,48.5247,26.4263	probably-damaging	184/601	52777578	3437,9569	2203	4300	6503	SO:0001583	missense	3890	exon2			AGGAACCGAACCT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.551G>A	12.37:g.52777578C>T	ENSP00000257951:p.Arg184Gln	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	113	44	0.389381	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	664	0.304029304029304	288	0.5853658536585366	100	0.27624309392265195	117	0.20454545454545456	159	0.20976253298153033	C	36	5.730439	0.96856	0.485247	0.151047	ENSG00000161849	ENST00000257951	D	0.92099	-2.97	5.32	5.32	0.75619	Filament (1);	0.000000	0.45867	D	0.000325	T	0.00012	0.0000	M	0.87180	2.865	0.21355	P	0.999713097	D	0.89917	1.0	D	0.91635	0.999	T	0.21415	-1.0246	9	0.72032	D	0.01	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs1613931;rs61083896	184	Q9NSB2	KRT84_HUMAN	Q	184	ENSP00000257951:R184Q	ENSP00000257951:R184Q	R	-	2	0	KRT84	51063845	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.903000	0.69877	2.941000	0.99782	0.655000	0.94253	CGG	C|0.686;T|0.314	0.314	strong		0.493	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		T	52777578	C	T	52777578	3	4	23	1	0	0	0	0	1	0	0	0	8498	652	23	1	1283	1	KRT84	12	52777578	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	65	52777578	81074317	3055	19511	397	2								
KRT84	3890	hgsc.bcm.edu	37	chr12	52777580	52777580	+	Silent	SNP	A	A	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgctgctctaggaaccgAacctaaatccacagggcaca					rs386763043|rs1613929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52777580A>C	ENST00000257951.3	-	2	615	c.549T>G	c.(547-549)gtT>gtG	p.V183V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	183	Coil 1A.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTAGGAACCGAACCTAAATCC	0.493													C|||	1664	0.332268	0.6172	0.3199	5008	,	,		22989	0.1954		0.2068	False		,,,				2504	0.226				p.V183V		Atlas-SNP	.											.	KRT84	61	.	0			c.T549G						PASS	.	C		2127,2279		715,697,791	54	55	55		549	1.2	1	12	dbSNP_89	55	1290,7310		180,930,3190	yes	coding-synonymous	KRT84	NM_033045.3		895,1627,3981	CC,CA,AA		15.0,48.2751,26.2725		183/601	52777580	3417,9589	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon2			GAACCGAACCTAA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.549T>G	12.37:g.52777580A>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	111	43	0.387387	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.686;C|0.314	0.314	strong		0.493	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		C	52777580	A	C	52777580	2	2	23	1	0	0	0	0	0	0	0	1	8498	233	9	5		5	KRT84	12	52777580	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2	52777580	81074315	3056	19512	397	2								
KRT84	3890	hgsc.bcm.edu	37	chr12	52778947	52778947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagtaggctcttgttcacAgtcacagctgtgatagatgg	12	8	4	2	rs1791631	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52778947A>G	ENST00000257951.3	-	1	489	c.423T>C	c.(421-423)acT>acC	p.T141T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	141	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTGTTCACAGTCACAGCTG	0.547													A|||	1691	0.33766	0.6354	0.3242	5008	,	,		18746	0.1954		0.2068	False		,,,				2504	0.226				p.T141T		Atlas-SNP	.											.	KRT84	61	.	0			c.T423C						PASS	.	A		2513,1893	628.2+/-395.1	741,1031,431	173	176	175		423	2.8	1	12	dbSNP_89	175	1805,6795	324.5+/-316.5	180,1445,2675	no	coding-synonymous	KRT84	NM_033045.3		921,2476,3106	GG,GA,AA		20.9884,42.9641,33.2001		141/601	52778947	4318,8688	2203	4300	6503	SO:0001819	synonymous_variant	3890	exon1			GTTCACAGTCACA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.423T>C	12.37:g.52778947A>G		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	118	63	0.533898	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																			A|0.685;G|0.315	0.315	strong		0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52778947	A	G	52778947	2	3	23	1	0	0	0	0	0	0	0	1	8498	175	7	3		3	KRT84	12	52778947	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1367	52778947	81072948	3057	19513										
KRT75	9119	hgsc.bcm.edu	37	chr12	52827740	52827740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttggatgcctccaggggGacacacggggaagctggggc	17	11	1	0	rs2232386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52827740G>C	ENST00000252245.5	-	1	569	c.349C>G	c.(349-351)Ccc>Gcc	p.P117A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	117	Gly-rich.|Head.		P -> A (in dbSNP:rs2232386).		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTCCAGGGGGACACACGGGG	0.612													G|||	647	0.129193	0.0726	0.2262	5008	,	,		15852	0.1548		0.1213	False		,,,				2504	0.1186				p.P117A		Atlas-SNP	.											.	KRT75	75	.	0			c.C349G						PASS	.	G	ALA/PRO	388,4018	195.3+/-220.0	18,352,1833	116	119	118		349	2.9	0	12	dbSNP_98	118	935,7665	204.9+/-247.5	54,827,3419	yes	missense	KRT75	NM_004693.2	27	72,1179,5252	CC,CG,GG		10.8721,8.8062,10.1722	possibly-damaging	117/552	52827740	1323,11683	2203	4300	6503	SO:0001583	missense	9119	exon1			CAGGGGGACACAC	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.349C>G	12.37:g.52827740G>C	ENSP00000252245:p.Pro117Ala	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	238	118	0.495798	NM_004693	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	286	0.13095238095238096	36	0.07317073170731707	65	0.17955801104972377	95	0.1660839160839161	90	0.11873350923482849	G	5.471	0.271891	0.10349	0.088062	0.108721	ENSG00000170454	ENST00000252245	T	0.74106	-0.81	5.74	2.87	0.33458	.	0.116168	0.38778	N	0.001573	T	0.00356	0.0011	M	0.61703	1.905	0.80722	P	0.0	P	0.41498	0.752	P	0.46208	0.507	T	0.14727	-1.0462	9	0.54805	T	0.06	.	7.8082	0.29215	0.1445:0.0:0.7251:0.1304	rs2232386;rs17716647;rs52833224;rs2232386	117	O95678	K2C75_HUMAN	A	117	ENSP00000252245:P117A	ENSP00000252245:P117A	P	-	1	0	KRT75	51114007	0.000000	0.05858	0.007000	0.13788	0.094000	0.18550	0.052000	0.14163	0.322000	0.23283	-0.152000	0.13540	CCC	G|0.888;C|0.112	0.112	strong		0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		C	52827740	G	C	52827740	3	2	23	1	0	0	0	0	1	0	0	0	8488	1174	41	4	1342	4	KRT75	12	52827740	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	48793	52827740	81024155	3058	19514										
KRT6C	286887	hgsc.bcm.edu	37	chr12	52863564	52863564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagccgggccaggtcctgCttggccttctgcagggcatc	14	14	1	0	rs3894847	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52863564C>T	ENST00000252250.6	-	7	1361	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	438	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCAGGTCCTGCTTGGCCTTCT	0.607													C|||	1177	0.235024	0.236	0.3429	5008	,	,		21106	0.1558		0.2445	False		,,,				2504	0.229				p.K438K		Atlas-SNP	.											.	KRT6C	55	.	0			c.G1314A						PASS	.	C		1001,3405	372.0+/-320.2	113,775,1315	79	67	71		1314	2.8	1	12	dbSNP_108	71	1869,6725	328.0+/-318.1	213,1443,2641	no	coding-synonymous	KRT6C	NM_173086.4		326,2218,3956	TT,TC,CC		21.7477,22.719,22.0769		438/565	52863564	2870,10130	2203	4297	6500	SO:0001819	synonymous_variant	286887	exon7			GTCCTGCTTGGCC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1314G>A	12.37:g.52863564C>T		Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	203	92	0.453202	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																			C|0.788;T|0.212	0.212	strong		0.607	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		T	52863564	C	T	52863564	2	4	23	1	0	0	0	0	0	0	0	1	8482	796	28	2		2	KRT6C	12	52863564	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	35824	52863564	80988331	3059	19515										
KRT5	3852	hgsc.bcm.edu	37	chr12	52908872	52908872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccacactgagcccaccacCtaggccgacacccccactgc	6	23	0	1	rs11549949	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52908872C>T	ENST00000252242.4	-	9	2017	c.1627G>A	c.(1627-1629)Ggt>Agt	p.G543S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	543	Ser-rich.|Tail.		G -> S (in dbSNP:rs11549949). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2455002}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCACCACCTAGgccgaca	0.677													C|||	645	0.128794	0.1793	0.1859	5008	,	,		12064	0.0387		0.1481	False		,,,				2504	0.093				p.G543S		Atlas-SNP	.											.	KRT5	88	.	0			c.G1627A						PASS	.	C	SER/GLY	766,3636	296.7+/-284.4	61,644,1496	34	35	35		1627	2	0	12	dbSNP_120	35	1200,7398	229.1+/-263.9	85,1030,3184	yes	missense	KRT5	NM_000424.3	56	146,1674,4680	TT,TC,CC		13.9567,17.4012,15.1231	benign	543/591	52908872	1966,11034	2201	4299	6500	SO:0001583	missense	3852	exon9			CACCACCTAGGCC		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1627G>A	12.37:g.52908872C>T	ENSP00000252242:p.Gly543Ser	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	27	0.369863	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	290	0.13278388278388278	103	0.20934959349593496	59	0.16298342541436464	20	0.03496503496503497	108	0.1424802110817942	c	4.125	0.021346	0.08006	0.174012	0.139567	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.97455	-4.39	4.86	1.98	0.26296	.	.	.	.	.	T	0.00524	0.0017	N	0.14661	0.345	0.80722	P	0.0	B	0.10296	0.003	B	0.08055	0.003	T	0.49234	-0.8961	8	0.08179	T	0.78	.	8.3579	0.32342	0.0:0.7466:0.0:0.2534	rs11549949;rs17855506;rs17855655;rs52824405;rs11549949	543	P13647	K2C5_HUMAN	S	543;508	ENSP00000252242:G543S	ENSP00000252242:G543S	G	-	1	0	KRT5	51195139	0.011000	0.17503	0.002000	0.10522	0.037000	0.13140	1.463000	0.35277	0.189000	0.20188	0.461000	0.40582	GGT	T|0.147;G|0.000;C|0.853;A|0.000	0.147	strong		0.677	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52908872	C	T	52908872	3	4	23	1	0	0	0	0	1	0	0	0	8479	681	24	2	149	2	KRT5	12	52908872	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45308	52908872	80943023	3060	19516										
KRT5	3852	hgsc.bcm.edu	37	chr12	52911401	52911401	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgataccaggactcggcttcTgtccggctgcggttggcaat	13	11	1	1	rs4761924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52911401T>G	ENST00000252242.4	-	5	1455	c.1065A>C	c.(1063-1065)acA>acC	p.T355T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	355	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCGGCTTCTGTCCGGCTGC	0.562													G|||	644	0.128594	0.1793	0.1859	5008	,	,		18148	0.0377		0.1481	False		,,,				2504	0.093				p.T355T		Atlas-SNP	.											.	KRT5	88	.	0			c.A1065C						PASS	.	G		767,3639	754.0+/-412.4	59,649,1495	139	134	136		1065	-12.1	0	12	dbSNP_111	136	1205,7395	763.3+/-407.6	86,1033,3181	no	coding-synonymous	KRT5	NM_000424.3		145,1682,4676	GG,GT,TT		14.0116,17.4081,15.1622		355/591	52911401	1972,11034	2203	4300	6503	SO:0001819	synonymous_variant	3852	exon5			GGCTTCTGTCCGG		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1065A>C	12.37:g.52911401T>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	49	0.515789	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																			T|0.856;G|0.144	0.144	strong		0.562	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			G	52911401	T	G	52911401	2	3	23	1	0	0	0	0	0	0	0	1	8479	1567	55	5		5	KRT5	12	52911401	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2529	52911401	80940494	3061	19517										
KRT5	3852	hgsc.bcm.edu	37	chr12	52912906	52912906	+	Silent	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgcagcagggtccacttGgtgtccagaaccttgttctg					rs641621	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52912906G>T	ENST00000252242.4	-	2	984	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	198	Coil 1A.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTCCACTTGGTGTCCAGAA	0.537													G|||	1077	0.215056	0.1089	0.2233	5008	,	,		19699	0.3393		0.2823	False		,,,				2504	0.1554				p.T198T		Atlas-SNP	.											.	KRT5	88	.	0			c.C594A						PASS	.						59	52	55					12																	52912906		2203	4298	6501	SO:0001819	synonymous_variant	3852	exon2			CCACTTGGTGTCC		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.594C>A	12.37:g.52912906G>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	131	37	0.282443	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																			T|0.177;G|0.823	0.177	strong		0.537	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52912906	G	T	52912906	2	4	23	1	0	0	0	0	0	0	0	1	8479	1335	47	4		4	KRT5	12	52912906	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1505	52912906	80938989	3062	19518	398	2								
KRT5	3852	hgsc.bcm.edu	37	chr12	52912909	52912909	+	Missense_Mutation	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagcagggtccacttggtGtccagaaccttgttctgctg					rs641615	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52912909G>T	ENST00000252242.4	-	2	981	c.591C>A	c.(589-591)gaC>gaA	p.D197E		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	197	Coil 1A.|Rod.		D -> E (in dbSNP:rs641615). {ECO:0000269|PubMed:2447486, ECO:0000269|PubMed:2476664}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACTTGGTGTCCAGAACCT	0.532													G|||	1077	0.215056	0.1089	0.2233	5008	,	,		19702	0.3393		0.2823	False		,,,				2504	0.1554				p.D197E		Atlas-SNP	.											.	KRT5	88	.	0			c.C591A						PASS	.						58	51	54					12																	52912909		2202	4296	6498	SO:0001583	missense	3852	exon2			CTTGGTGTCCAGA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.591C>A	12.37:g.52912909G>T	ENSP00000252242:p.Asp197Glu	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	126	34	0.269841	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	555	0.2541208791208791	58	0.11788617886178862	91	0.2513812154696133	199	0.3479020979020979	207	0.27308707124010556	G	5.448	0.267812	0.10349	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	T;T	0.72282	-0.64;-0.64	5.31	2.41	0.29592	Filament (1);	0.000000	0.64402	D	0.000015	T	0.00012	0.0000	N	0.00001	-3.76	0.38288	P	0.05736600000000003	B	0.18741	0.03	B	0.15052	0.012	T	0.46105	-0.9215	9	0.02654	T	1	.	7.4373	0.27162	0.0684:0.3532:0.4752:0.1032	rs641615;rs1042272;rs3176960;rs3181708;rs17400360;rs59010565	197	P13647	K2C5_HUMAN	E	197;162;87	ENSP00000252242:D197E;ENSP00000447209:D87E	ENSP00000252242:D197E	D	-	3	2	KRT5	51199176	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.484000	0.22308	0.792000	0.33850	0.655000	0.94253	GAC	G|0.790;T|0.210	0.210	strong		0.532	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52912909	G	T	52912909	3	4	23	1	0	0	0	0	1	0	0	0	8479	1368	48	4	1213	4	KRT5	12	52912909	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3	52912909	80938986	3063	19519	398	2								
KRT72	140807	hgsc.bcm.edu	37	chr12	52981627	52981627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggcgatggccgtctccagAtcggcacactgaggggcaaa	14	12	1	2	rs7310138	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:52981627A>T	ENST00000537672.2	-	7	1108	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	KRT72_ENST00000293745.2_Missense_Mutation_p.D366E|KRT72_ENST00000398066.3_Missense_Mutation_p.D178E|KRT72_ENST00000354310.4_Missense_Mutation_p.D324E	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	366	Coil 2.|Rod.		D -> E (in dbSNP:rs7310138). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCGTCTCCAGATCGGCACACT	0.607													A|||	713	0.142372	0.1127	0.1455	5008	,	,		20020	0.1349		0.2465	False		,,,				2504	0.0808				p.D366E		Atlas-SNP	.											.	KRT72	70	.	0			c.T1098A						PASS	.	A	GLU/ASP,GLU/ASP,GLU/ASP	602,3804	259.2+/-262.9	48,506,1649	30	29	29		1098,972,1098	1	1	12	dbSNP_116	29	1976,6624	340.3+/-323.5	233,1510,2557	yes	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	45,45,45	281,2016,4206	TT,TA,AA		22.9767,13.6632,19.8216	benign,benign,benign	366/512,324/470,366/512	52981627	2578,10428	2203	4300	6503	SO:0001583	missense	140807	exon7			CTCCAGATCGGCA	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1098T>A	12.37:g.52981627A>T	ENSP00000441160:p.Asp366Glu	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	66	31	0.469697	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	364	0.16666666666666666	55	0.11178861788617886	58	0.16022099447513813	71	0.12412587412587413	180	0.23746701846965698	A	9.862	1.196455	0.22037	0.136632	0.229767	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.87	0.958	0.19619	Filament (1);	0.104637	0.41500	D	0.000872	T	0.00039	0.0001	N	0.01874	-0.695	0.58432	P	1.999999999946489E-6	B;B	0.13594	0.002;0.008	B;B	0.25759	0.001;0.063	T	0.19451	-1.0305	9	0.62326	D	0.03	.	9.4894	0.38951	0.369:0.0:0.631:0.0	rs7310138;rs17674666;rs7310138	324;366	B4DEI8;Q14CN4	.;K2C72_HUMAN	E	366;366;324;178	ENSP00000441160:D366E;ENSP00000293745:D366E;ENSP00000346269:D324E;ENSP00000446151:D178E	ENSP00000293745:D366E	D	-	3	2	KRT72	51267894	0.000000	0.05858	0.971000	0.41717	0.046000	0.14306	-0.414000	0.07114	0.055000	0.16094	-0.268000	0.10319	GAT	A|0.813;T|0.187	0.187	strong		0.607	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52981627	A	T	52981627	3	4	23	1	0	0	0	0	1	0	0	0	8485	330	12	5	449	5	KRT72	12	52981627	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	68718	52981627	80870268	3064	19520										
KRT73	319101	hgsc.bcm.edu	37	chr12	53005051	53005051	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacgggtcagctctgagatCtcatttttggtgtgtttcag	12	7	4	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53005051C>T	ENST00000305748.3	-	6	1081	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	349	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCTGAGATCTCATTTTTGG	0.527																																					p.E349E		Atlas-SNP	.											KRT73,neck,malignant_melanoma,-2,1	KRT73	101	1	0			c.G1047A						scavenged	.						166	140	148					12																	53005051		2203	4300	6503	SO:0001819	synonymous_variant	319101	exon6			TGAGATCTCATTT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1047G>A	12.37:g.53005051C>T		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	290	3	0.0103448	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																			.	.	none		0.527	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		T	53005051	C	T	53005051	2	4	23	1	0	0	0	0	0	0	0	1	8486	912	32	2		2	KRT73	12	53005051	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	23424	53005051	80846844	3065	19521										
KRT1	3848	hgsc.bcm.edu	37	chr12	53069243	53069243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctccggagccgtagctgcTacctccggagccatagctgc	11	16	0	0	rs77846840|rs540699806|rs267607656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53069243T>C	ENST00000252244.3	-	9	1727	c.1669A>G	c.(1669-1671)Agc>Ggc	p.S557G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccgtagctgctacctccggag	0.682																																					p.S557G		Atlas-SNP	.											.	KRT1	110	.	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)	c.A1669G						PASS	.						4	4	4					12																	53069243		1805	3566	5371	SO:0001583	missense	3848	exon9			AGCTGCTACCTCC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669A>G	12.37:g.53069243T>C	ENSP00000252244:p.Ser557Gly	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	25	8	0.32	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	t	12.77	2.037794	0.35989	.	.	ENSG00000167768	ENST00000252244	T	0.81247	-1.47	3.63	0.628	0.17681	.	.	.	.	.	T	0.54711	0.1875	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	8	0.07644	T	0.81	.	5.639	0.17552	0.0:0.6406:0.1602:0.1993	.	557	P04264	K2C1_HUMAN	G	557	ENSP00000252244:S557G	ENSP00000252244:S557G	S	-	1	0	KRT1	51355510	0.000000	0.05858	0.034000	0.17996	0.201000	0.24016	-0.192000	0.09587	-0.104000	0.12154	-1.598000	0.00824	AGC	T|0.500;C|0.500	0.500	weak		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		C	53069243	T	C	53069243	3	2	23	1	0	0	0	0	1	0	0	0	8447	1522	53	3	269	3	KRT1	12	53069243	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64192	53069243	80782652	3066	19522										
KRT77	374454	hgsc.bcm.edu	37	chr12	53088484	53088484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atactgggtccgcactgcatCgatgatgctgtccaggtcca	11	12	0	1	rs10783528	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53088484C>T	ENST00000341809.3	-	5	1034	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	KRT77_ENST00000537195.1_Missense_Mutation_p.D103N|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	336	Coil 2.|Rod.			D -> N (in Ref. 1; CAD91892). {ECO:0000305}.		cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGCACTGCATCGATGATGCTG	0.587													C|||	1594	0.318291	0.1377	0.281	5008	,	,		19567	0.5813		0.3559	False		,,,				2504	0.2791				p.D336N		Atlas-SNP	.											.	KRT77	58	.	0			c.G1006A						PASS	.	C	ASN/ASP	875,3531	342.8+/-307.3	90,695,1418	139	97	111		1006	0.5	0	12	dbSNP_120	111	2918,5682	456.7+/-364.1	504,1910,1886	yes	missense	KRT77	NM_175078.2	23	594,2605,3304	TT,TC,CC		33.9302,19.8593,29.1635	benign	336/579	53088484	3793,9213	2203	4300	6503	SO:0001583	missense	374454	exon5			CTGCATCGATGAT	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.1006G>A	12.37:g.53088484C>T	ENSP00000342710:p.Asp336Asn	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	127	63	0.496063	NM_175078	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	801	0.36675824175824173	65	0.13211382113821138	114	0.3149171270718232	345	0.6031468531468531	277	0.3654353562005277	C	10.17	1.275491	0.23307	0.198593	0.339302	ENSG00000189182	ENST00000341809;ENST00000537195	T;T	0.78816	-1.21;-1.07	4.94	0.542	0.17174	Filament (1);	.	.	.	.	T	0.00012	0.0000	N	0.16903	0.455	0.80722	P	0.0	B	0.32731	0.382	B	0.22386	0.039	T	0.46638	-0.9177	8	0.66056	D	0.02	.	8.2491	0.31706	0.0:0.515:0.3418:0.1432	rs10783528;rs52810493;rs58359758;rs10783528	336	Q7Z794	K2C1B_HUMAN	N	336;103	ENSP00000342710:D336N;ENSP00000440803:D103N	ENSP00000342710:D336N	D	-	1	0	KRT77	51374751	0.000000	0.05858	0.004000	0.12327	0.187000	0.23431	-0.031000	0.12287	0.188000	0.20168	0.555000	0.69702	GAT	C|0.676;T|0.324	0.324	strong		0.587	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		T	53088484	C	T	53088484	3	4	23	1	0	0	0	0	1	0	0	0	8490	884	31	1	750	1	KRT77	12	53088484	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19241	53088484	80763411	3067	19523										
KRT77	374454	hgsc.bcm.edu	37	chr12	53090181	53090181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacgacaaagtcattctcGctgccagtcctcttgttgat	9	11	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53090181G>A	ENST00000341809.3	-	3	820	c.792C>T	c.(790-792)agC>agT	p.S264S	KRT77_ENST00000537195.1_Silent_p.S31S|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	264	Coil 1B.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S264S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGTCATTCTCGCTGCCAGTCC	0.567																																					p.S264S		Atlas-SNP	.											KRT77,NS,carcinoma,0,1	KRT77	58	1	1	Substitution - coding silent(1)	lung(1)	c.C792T						scavenged	.						176	125	142					12																	53090181		2203	4300	6503	SO:0001819	synonymous_variant	374454	exon3			ATTCTCGCTGCCA	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.792C>T	12.37:g.53090181G>A		Somatic	51	1	0.0196078		WXS	Illumina HiSeq	Phase_I	56	27	0.482143	NM_175078	Q7RTS8	Silent	SNP	ENST00000341809.3	37	CCDS8837.1																																																																																			.	.	none		0.567	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		A	53090181	G	A	53090181	2	1	23	1	0	0	0	0	0	0	0	1	8490	1078	38	1		1	KRT77	12	53090181	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1697	53090181	80761714	3068	19524										
KRT76	51350	hgsc.bcm.edu	37	chr12	53164848	53164848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatccagggccagcttgacGttcatcagctcctggtagtc	10	13	2	1	rs7313832	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53164848G>A	ENST00000332411.2	-	7	1472	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	473	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGCTTGACGTTCATCAGCT	0.577													G|||	2089	0.417133	0.3555	0.3991	5008	,	,		16564	0.3919		0.5855	False		,,,				2504	0.3661				p.N473N		Atlas-SNP	.											KRT76,NS,adenoma,0,1	KRT76	72	1	0			c.C1419T						scavenged	.	G		1630,2776	502.0+/-365.1	303,1024,876	130	118	122		1419	-7.3	0.1	12	dbSNP_116	122	4790,3810	613.1+/-396.0	1335,2120,845	no	coding-synonymous	KRT76	NM_015848.4		1638,3144,1721	AA,AG,GG		44.3023,36.995,49.3618		473/639	53164848	6420,6586	2203	4300	6503	SO:0001819	synonymous_variant	51350	exon7			CTTGACGTTCATC	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1419C>T	12.37:g.53164848G>A		Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	159	69	0.433962	NM_015848	B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																			G|0.510;A|0.490	0.490	strong		0.577	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		A	53164848	G	A	53164848	2	1	23	1	0	0	0	0	0	0	0	1	8489	1136	40	1		1	KRT76	12	53164848	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	74667	53164848	80687047	3069	19525										
AAAS	8086	hgsc.bcm.edu	37	chr12	53708910	53708910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggcaaattcagcgatcagAtcttcgctcctgagctgtaa	10	10	3	2	rs11540353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:53708910A>G	ENST00000209873.4	-	5	579	c.414T>C	c.(412-414)gaT>gaC	p.D138D	AAAS_ENST00000550286.1_Silent_p.D14D|AAAS_ENST00000394384.3_Silent_p.D138D|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	138					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CAGCGATCAGATCTTCGCTCC	0.498													A|||	182	0.0363419	0.0038	0.085	5008	,	,		20660	0.0		0.1113	False		,,,				2504	0.0061				p.D138D		Atlas-SNP	.											.	AAAS	46	.	0			c.T414C						PASS	.	A	,	104,4302	82.4+/-120.9	2,100,2101	94	87	89		414,414	4.9	1	12	dbSNP_120	89	881,7719	199.0+/-243.2	53,775,3472	no	coding-synonymous,coding-synonymous	AAAS	NM_001173466.1,NM_015665.5	,	55,875,5573	GG,GA,AA		10.2442,2.3604,7.5734	,	138/514,138/547	53708910	985,12021	2203	4300	6503	SO:0001819	synonymous_variant	8086	exon5			GATCAGATCTTCG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.414T>C	12.37:g.53708910A>G		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	223	117	0.524664	NM_015665	Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	CCDS8856.1																																																																																			A|0.931;G|0.069	0.069	strong		0.498	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			G	53708910	A	G	53708910	2	3	23	1	0	0	0	0	0	0	0	1	8	330	12	2		2	AAAS	12	53708910	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	544062	53708910	80142985	3070	19526										
CBX5	23468	hgsc.bcm.edu	37	chr12	54639963	54639963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgatcttttctggttccaGtcctctctcaaagccccgag	7	13	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:54639963G>A	ENST00000439541.2	-	4	486	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	CBX5_ENST00000209875.4_Silent_p.L121L|CBX5_ENST00000550411.1_Silent_p.L121L	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	121	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.|Interaction with ASXL1.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTGGTTCCAGTCCTCTCTCA	0.403																																					p.L121L	Colon(153;588 2459 18334 48613)	Atlas-SNP	.											.	CBX5	24	.	0			c.C361T						PASS	.						196	176	183					12																	54639963		2203	4300	6503	SO:0001819	synonymous_variant	23468	exon4			GTTCCAGTCCTCT	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.361C>T	12.37:g.54639963G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	159	73	0.459119	NM_012117	B2R8T9	Silent	SNP	ENST00000439541.2	37	CCDS8875.1																																																																																			.	.	none		0.403	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		A	54639963	G	A	54639963	2	1	23	1	0	0	0	0	0	0	0	1	2721	1020	36	2		2	CBX5	12	54639963	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	931053	54639963	79211932	3071	19527										
HNRNPA1	3178	hgsc.bcm.edu	37	chr12	54676630	54676630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggatatggtggcagtggGgatggctataatggatttgg	19	2	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:54676630G>A	ENST00000340913.6	+	7	776	c.723G>A	c.(721-723)ggG>ggA	p.G241G	HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Silent_p.G228G|HNRNPA1_ENST00000546500.1_Silent_p.G241G|RP11-968A15.8_ENST00000553061.1_RNA|CBX5_ENST00000209875.4_5'Flank	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	241	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						gtggcagtggggatggctata	0.398																																					p.G241G	Colon(83;502 1289 8436 16406 24870)	Atlas-SNP	.											.	HNRNPA1	72	.	0			c.G723A						PASS	.						34	33	34					12																	54676630		2008	3945	5953	SO:0001819	synonymous_variant	3178	exon7			CAGTGGGGATGGC	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.723G>A	12.37:g.54676630G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	104	38	0.365385	NM_002136	A8K4Z8|Q3MIB7|Q6PJZ7	Silent	SNP	ENST00000340913.6	37	CCDS44909.1																																																																																			.	.	none		0.398	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		A	54676630	G	A	54676630	2	1	23	1	0	0	0	0	0	0	0	1	7257	1219	43	2		2	HNRNPA1	12	54676630	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	36667	54676630	79175265	3072	19528										
ZNF385A	25946	hgsc.bcm.edu	37	chr12	54767812	54767812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctgcctgggggagctggGtctccaggttctcggacgcc	17	12	2	0	rs2887875	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:54767812G>A	ENST00000338010.5	-	4	419	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF385A_ENST00000394313.2_Silent_p.D102D|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Silent_p.D122D|ZNF385A_ENST00000551109.1_Silent_p.D102D|ZNF385A_ENST00000551771.1_Silent_p.D102D|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000546970.1_Silent_p.D102D	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	122					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGGGAGCTGGGTCTCCAGGTT	0.587													G|||	1202	0.240016	0.1029	0.3674	5008	,	,		16152	0.3075		0.165	False		,,,				2504	0.3425				p.D122D		Atlas-SNP	.											.	ZNF385A	45	.	0			c.C366T						PASS	.	G	,,	570,3836	254.3+/-259.9	42,486,1675	84	74	78		366,366,306	0.9	1	12	dbSNP_101	78	1534,7066	289.2+/-299.1	133,1268,2899	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF385A	NM_001130967.1,NM_001130968.1,NM_015481.1	,,	175,1754,4574	AA,AG,GG		17.8372,12.9369,16.1771	,,	122/387,122/306,102/367	54767812	2104,10902	2203	4300	6503	SO:0001819	synonymous_variant	25946	exon4			AGCTGGGTCTCCA	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.366C>T	12.37:g.54767812G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	54	0.574468	NM_001130967	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	CCDS44911.1																																																																																			G|0.827;C|0.000;A|0.173	0.173	strong		0.587	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		A	54767812	G	A	54767812	2	1	23	1	0	0	0	0	0	0	0	1	17873	1252	44	2		2	ZNF385A	12	54767812	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	91182	54767812	79084083	3073	19529										
DCD	117159	hgsc.bcm.edu	37	chr12	55038536	55038536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtctttaacgtcatggacGgctcctaggacagccacaga	10	12	2	1	rs139716642		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:55038536G>A	ENST00000293371.6	-	5	483	c.294C>T	c.(292-294)gcC>gcT	p.A98A	DCD_ENST00000456047.2_Missense_Mutation_p.R120C	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	98					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CGTCATGGACGGCTCCTAGGA	0.488																																					p.A98A		Atlas-SNP	.											.	DCD	20	.	0			c.C294T						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	31	28	29		294	-1.2	0	12	dbSNP_134	29	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	DCD	NM_053283.2		0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231		98/111	55038536	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	117159	exon5			ATGGACGGCTCCT	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"proteolysis inducing factor", "preproteolysin", "diffusible survival/evasion peptide", "survival promoting peptide"	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.294C>T	12.37:g.55038536G>A		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	238	120	0.504202	NM_053283	A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	37	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	G	3.323	-0.138330	0.06669	2.27E-4	2.33E-4	ENSG00000161634	ENST00000456047	.	.	.	2.5	-1.22	0.09494	.	.	.	.	.	T	0.28433	0.0703	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29212	-1.0019	7	0.87932	D	0	.	6.2481	0.20830	0.2528:0.0:0.7472:0.0	.	120	A5JHP3	.	C	120	.	ENSP00000406773:R120C	R	-	1	0	DCD	53324803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.129000	0.11620	-0.440000	0.05779	CGT	G|1.000;A|0.000	0.000	weak		0.488	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		A	55038536	G	A	55038536	2	1	23	1	0	0	0	0	0	0	0	1	4283	1103	39	1		1	DCD	12	55038536	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	270724	55038536	78813359	3074	19530										
OR6C70	390327	hgsc.bcm.edu	37	chr12	55863381	55863381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaagaaagttgtaggataAgagaaatgtcacaaatgaaa	10	3	1	3	rs10747756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:55863381A>G	ENST00000327335.4	-	1	541	c.542T>C	c.(541-543)cTt>cCt	p.L181P	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	181			L -> P (in dbSNP:rs10747756).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTGTAGGATAAGAGAAATGTC	0.338													G|||	4156	0.829872	0.972	0.7723	5008	,	,		22499	0.8929		0.7525	False		,,,				2504	0.6933				p.L181P		Atlas-SNP	.											.	OR6C70	35	.	0			c.T542C						PASS	.	G	PRO/LEU	4102,304	164.4+/-196.0	1913,276,14	102	107	105		542	3.2	0.3	12	dbSNP_120	105	6561,2039	352.4+/-328.6	2506,1549,245	yes	missense	OR6C70	NM_001005499.1	98	4419,1825,259	GG,GA,AA		23.7093,6.8997,18.0148	benign	181/313	55863381	10663,2343	2203	4300	6503	SO:0001583	missense	390327	exon1			AGGATAAGAGAAA		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.542T>C	12.37:g.55863381A>G	ENSP00000329153:p.Leu181Pro	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_001005499		Missense_Mutation	SNP	ENST00000327335.4	37	CCDS31825.1	1834	0.8397435897435898	476	0.967479674796748	278	0.7679558011049724	520	0.9090909090909091	560	0.7387862796833773	G	0.001	-3.373569	0.00015	0.931003	0.762907	ENSG00000184954	ENST00000327335	T	0.00023	8.99	4.06	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	N	0.000099	T	0.00012	0.0000	N	0.00018	-2.81	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	9	0.02654	T	1	.	7.1306	0.25499	0.0866:0.0:0.5601:0.3534	rs10747756;rs59156371;rs10747756	181	A6NIJ9	O6C70_HUMAN	P	181	ENSP00000329153:L181P	ENSP00000329153:L181P	L	-	2	0	OR6C70	54149648	0.001000	0.12720	0.270000	0.24601	0.037000	0.13140	0.828000	0.27435	0.481000	0.27557	-0.119000	0.15052	CTT	A|0.170;G|0.830	0.830	strong		0.338	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			G	55863381	A	G	55863381	3	3	23	1	0	0	0	0	1	0	0	0	11197	72	3	3	398	3	OR6C70	12	55863381	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	824845	55863381	77988514	3075	19531										
OR6C70	390327	hgsc.bcm.edu	37	chr12	55863398	55863398	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataagagaaatgtcacaaatGaaatgatcaatgatatttga	7	3	2	5	rs12313730	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:55863398G>A	ENST00000327335.4	-	1	524	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGTCACAAATGAAATGATCAA	0.348													G|||	806	0.160942	0.0189	0.2291	5008	,	,		21963	0.0665		0.3131	False		,,,				2504	0.2454				p.F175F		Atlas-SNP	.											.	OR6C70	35	.	0			c.C525T						PASS	.	G		263,4143	146.1+/-180.8	4,255,1944	94	97	96		525	-1	0.1	12	dbSNP_120	96	2551,6049	412.8+/-350.9	384,1783,2133	no	coding-synonymous	OR6C70	NM_001005499.1		388,2038,4077	AA,AG,GG		29.6628,5.9691,21.6362		175/313	55863398	2814,10192	2203	4300	6503	SO:0001819	synonymous_variant	390327	exon1			ACAAATGAAATGA		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.525C>T	12.37:g.55863398G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	98	45	0.459184	NM_001005499		Silent	SNP	ENST00000327335.4	37	CCDS31825.1																																																																																			G|0.814;A|0.186	0.186	strong		0.348	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			A	55863398	G	A	55863398	2	1	23	1	0	0	0	0	0	0	0	1	11197	1281	45	2		2	OR6C70	12	55863398	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17	55863398	77988497	3076	19532										
ITGA7	3679	hgsc.bcm.edu	37	chr12	56092682	56092682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcacgcaccagacctttCcccgagtcaatagagaagcc	8	15	2	2	rs3847675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:56092682C>T	ENST00000555728.1	-	7	970	c.942G>A	c.(940-942)ggG>ggA	p.G314G	ITGA7_ENST00000394229.2_Silent_p.G270G|ITGA7_ENST00000394230.2_Silent_p.G274G|ITGA7_ENST00000347027.6_Silent_p.G270G|ITGA7_ENST00000257880.7_Silent_p.G314G|ITGA7_ENST00000553804.1_Silent_p.G274G|ITGA7_ENST00000452168.2_Silent_p.G177G|ITGA7_ENST00000257879.6_Silent_p.G270G			Q13683	ITA7_HUMAN	integrin, alpha 7	314					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAGACCTTTCCCCGAGTCAA	0.617													C|||	175	0.0349441	0.0023	0.0648	5008	,	,		15771	0.0		0.0994	False		,,,				2504	0.0276				p.G274G		Atlas-SNP	.											ITGA7_ENST00000553804,rectum,carcinoma,0,2	ITGA7	194	2	0			c.G822A						PASS	.	C	,,	63,4343		0,63,2140	19	20	20		822,531,810	4.5	1	12	dbSNP_108	20	710,7890		38,634,3628	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	,,	38,697,5768	TT,TC,CC		8.2558,1.4299,5.9434	,,	274/1142,177/1045,270/1138	56092682	773,12233	2203	4300	6503	SO:0001819	synonymous_variant	3679	exon6			ACCTTTCCCCGAG		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.942G>A	12.37:g.56092682C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_001144996	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37																																																																																				C|0.941;T|0.059	0.059	strong		0.617	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56092682	C	T	56092682	2	4	23	1	0	0	0	0	0	0	0	1	7881	842	30	2		2	ITGA7	12	56092682	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	229284	56092682	77759213	3077	19533										
MMP19	4327	hgsc.bcm.edu	37	chr12	56236136	56236136	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atacacctcatagcttctcaCctcagagcctcggtgatatc	6	14	3	2	rs145293054		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:56236136C>T	ENST00000322569.4	-	2	265		c.e2+1		MMP19_ENST00000548629.1_Splice_Site|MMP19_ENST00000409200.3_Splice_Site|MMP19_ENST00000547487.1_Splice_Site	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TAGCTTCTCACCTCAGAGCCT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19637	0.0		0.001	False		,,,				2504	0.0				.		Atlas-SNP	.											.	MMP19	61	.	0			c.173+1G>A						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	154	119	131			6.1	1	12	dbSNP_134	131	17,8583	12.6+/-44.7	0,17,4283	yes	splice-5	MMP19	NM_002429.4		0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384			56236136	18,12988	2203	4300	6503	SO:0001630	splice_region_variant	4327	exon3			TTCTCACCTCAGA	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.173+1G>A	12.37:g.56236136C>T		Somatic	227	1	0.00440529		WXS	Illumina HiSeq	Phase_I	230	117	0.508696	NM_002429	B4E030|O15278|O95606|Q99580	Splice_Site	SNP	ENST00000322569.4	37	CCDS8895.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	24.7	4.564157	0.86335	2.27E-4	0.001977	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP19	54522403	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.839000	0.62810	2.894000	0.99253	0.655000	0.94253	.	C|0.999;T|0.001	0.001	strong		0.498	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	Intron	T	56236136	C	T	56236136	5	4	23	1	0	0	0	0	0	0	1	0	9657	521	18	2	1384	2	MMP19	12	56236136	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	143454	56236136	77615759	3078	19534										
GLS2	27165	hgsc.bcm.edu	37	chr12	56865338	56865338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcagcctgagtttcagagAgtgtgtaggagtcctggtaa	13	8	2	2	rs2657879	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:56865338A>G	ENST00000311966.4	-	18	2020	c.1742T>C	c.(1741-1743)cTc>cCc	p.L581P	MIP_ENST00000555551.1_5'Flank|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	581			L -> P (in dbSNP:rs2657879). {ECO:0000269|Ref.3}.		cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	AGTTTCAGAGAGTGTGTAGGA	0.512													A|||	643	0.128395	0.0371	0.2392	5008	,	,		21065	0.0823		0.2127	False		,,,				2504	0.1339				p.L581P		Atlas-SNP	.											.	GLS2	42	.	0			c.T1742C						PASS	.	A	PRO/LEU	289,4117	159.2+/-191.8	8,273,1922	74	66	69	http://www.ncbi.nlm.nih.gov/pubmed?term	1742	3.1	0.9	12	dbSNP_100	69	1601,6999	297.9+/-303.7	147,1307,2846	yes	missense	GLS2	NM_013267.2	98	155,1580,4768	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	18.6163,6.5592,14.5318	benign	581/603	56865338	1890,11116	2203	4300	6503	SO:0001583	missense	27165	exon18			TCAGAGAGTGTGT		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1742T>C	12.37:g.56865338A>G	ENSP00000310447:p.Leu581Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	146	67	0.458904	NM_013267	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	299	0.13690476190476192	21	0.042682926829268296	77	0.212707182320442	48	0.08391608391608392	153	0.20184696569920843	A	2.497	-0.316008	0.05422	0.065592	0.186163	ENSG00000135423	ENST00000311966	T	0.30182	1.54	5.6	3.08	0.35506	.	0.387987	0.25590	N	0.029624	T	0.00012	0.0000	L	0.37630	1.12	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.23190	-1.0195	9	0.28530	T	0.3	-19.7846	6.3142	0.21180	0.7659:0.0:0.2341:0.0	rs2657879;rs17442734;rs2657879	581	Q9UI32	GLSL_HUMAN	P	581	ENSP00000310447:L581P	ENSP00000310447:L581P	L	-	2	0	GLS2	55151605	0.286000	0.24305	0.897000	0.35233	0.041000	0.13682	1.374000	0.34283	0.678000	0.31325	0.533000	0.62120	CTC	A|0.864;G|0.136	0.136	strong		0.512	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		G	56865338	A	G	56865338	3	3	23	1	0	0	0	0	1	0	0	0	6464	304	11	3	70	3	GLS2	12	56865338	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	629202	56865338	76986557	3079	19535										
R3HDM2	22864	hgsc.bcm.edu	37	chr12	57649840	57649840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttgccccggtttccatgCttcagtccactctgtccctt	6	17	3	0	rs4075325	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:57649840C>T	ENST00000347140.3	-	23	2913	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000403821.2_Silent_p.K875K|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Silent_p.K855K|R3HDM2_ENST00000441731.2_Silent_p.K536K|R3HDM2_ENST00000358907.2_Silent_p.K841K|R3HDM2_ENST00000413953.2_Silent_p.K568K			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	841						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTTTCCATGCTTCAGTCCAC	0.502													C|||	2085	0.416334	0.2284	0.5533	5008	,	,		20612	0.4405		0.4155	False		,,,				2504	0.5491				p.K841K		Atlas-SNP	.											.	R3HDM2	125	.	0			c.G2523A						PASS	.	C		1241,3165	428.7+/-342.0	187,867,1149	198	159	172		2523	3.8	1	12	dbSNP_108	172	3992,4608	553.0+/-386.2	947,2098,1255	no	coding-synonymous	R3HDM2	NM_014925.3		1134,2965,2404	TT,TC,CC		46.4186,28.1661,40.2353		841/977	57649840	5233,7773	2203	4300	6503	SO:0001819	synonymous_variant	22864	exon21			TCCATGCTTCAGT	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2523G>A	12.37:g.57649840C>T		Somatic	295	2	0.00677966		WXS	Illumina HiSeq	Phase_I	285	284	0.996491	NM_014925	Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	CCDS8937.2																																																																																			C|0.612;T|0.388	0.388	strong		0.502	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		T	57649840	C	T	57649840	2	4	23	1	0	0	0	0	0	0	0	1	12888	796	28	2		2	R3HDM2	12	57649840	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	784502	57649840	76202055	3080	19536										
GEFT	115557	hgsc.bcm.edu	37	chr12	58005682	58005682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggggcccgggcgccatgcGgggggggcacaaagggggtc	24	10	0	0	rs60586224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:58005682G>A	ENST00000286494.4	+	1	465	c.5G>A	c.(4-6)cGg>cAg	p.R2Q	ARHGEF25_ENST00000333972.7_Intron|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	2						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ggcgccATGCGGGGGGGGCAC	0.766													G|||	1020	0.203674	0.2564	0.1585	5008	,	,		6274	0.1657		0.2366	False		,,,				2504	0.1697				p.R2Q		Atlas-SNP	.											.	ARHGEF25	111	.	0			c.G5A						PASS	.	G	,GLN/ARG	1060,2980		158,744,1118	8	10	9		,5	2.6	1	12	dbSNP_129	9	1844,6144		237,1370,2387	yes	intron,missense	ARHGEF25	NM_001111270.1,NM_182947.2	,43	395,2114,3505	AA,AG,GG		23.0846,26.2376,24.1437	,	,2/581	58005682	2904,9124	2020	3994	6014	SO:0001583	missense	115557	exon1			CCATGCGGGGGGG		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.5G>A	12.37:g.58005682G>A	ENSP00000286494:p.Arg2Gln	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	13	7	0.538462	NM_182947	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	480	0.21978021978021978	132	0.2682926829268293	58	0.16022099447513813	106	0.1853146853146853	184	0.24274406332453827	g	16.49	3.137243	0.56936	0.262376	0.230846	ENSG00000240771	ENST00000286494	T	0.47528	0.84	2.62	2.62	0.31277	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.39530	P	0.031360000000000054	D	0.58620	0.983	P	0.61201	0.885	T	0.17379	-1.0371	8	0.62326	D	0.03	.	11.0356	0.47799	0.0:0.0:1.0:0.0	rs60586224	2	Q86VW2	ARHGP_HUMAN	Q	2	ENSP00000286494:R2Q	ENSP00000286494:R2Q	R	+	2	0	ARHGEF25	56291949	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.044000	0.49830	1.767000	0.52121	0.289000	0.19496	CGG	G|0.777;A|0.223	0.223	strong		0.766	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		A	58005682	G	A	58005682	3	1	23	1	0	0	0	0	1	0	0	0	6328	1116	39	1	229	1	GEFT	12	58005682	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	355842	58005682	75846213	3081	19537										
B4GALNT1	2583	hgsc.bcm.edu	37	chr12	58023981	58023981	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcggctgctgtaagtgacCagttgtagttgcctgttgag	13	8	0	2	rs715930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:58023981C>A	ENST00000341156.4	-	6	1250	c.666G>T	c.(664-666)ctG>ctT	p.L222L	B4GALNT1_ENST00000418555.2_Silent_p.L167L|B4GALNT1_ENST00000552350.1_Silent_p.L222L|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Silent_p.L222L|B4GALNT1_ENST00000550764.1_Silent_p.L222L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	222					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.L222L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGTAAGTGACCAGTTGTAGTT	0.572													C|||	1067	0.213059	0.2776	0.281	5008	,	,		20016	0.1319		0.2058	False		,,,				2504	0.1687				p.Q222H		Atlas-SNP	.											B4GALNT1,NS,carcinoma,0,1	B4GALNT1	53	1	1	Substitution - coding silent(1)	stomach(1)	c.G666T						scavenged	.	C		1156,3250		141,874,1188	125	97	107		666	3.8	1	12	dbSNP_86	107	1821,6779		205,1411,2684	no	coding-synonymous	B4GALNT1	NM_001478.3		346,2285,3872	AA,AC,CC		21.1744,26.2369,22.8894		222/534	58023981	2977,10029	2203	4300	6503	SO:0001819	synonymous_variant	2583	exon6			AGTGACCAGTTGT	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.666G>T	12.37:g.58023981C>A		Somatic	323	2	0.00619195		WXS	Illumina HiSeq	Phase_I	295	150	0.508475	NM_001478	B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1																																																																																			C|0.771;A|0.229	0.229	strong		0.572	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		A	58023981	C	A	58023981	2	1	23	1	0	0	0	0	0	0	0	1	1266	581	21	4		4	B4GALNT1	12	58023981	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18299	58023981	75827914	3082	19538										
XRCC6BP1	91419	hgsc.bcm.edu	37	chr12	58335626	58335626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttctccagcttcttcaccAgcaaccagaagtgccagctt	6	15	4	1	rs3751325	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:58335626A>T	ENST00000300145.3	+	1	267	c.142A>T	c.(142-144)Agc>Tgc	p.S48C		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	48			S -> C (in dbSNP:rs3751325). {ECO:0000269|PubMed:10219089}.		double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CTTCTTCACCAGCAACCAGAA	0.597													A|||	1664	0.332268	0.0794	0.3761	5008	,	,		16918	0.6429		0.3131	False		,,,				2504	0.3425				p.S48C		Atlas-SNP	.											XRCC6BP1,NS,carcinoma,0,1	XRCC6BP1	22	1	0			c.A142T						PASS	.	A	CYS/SER	439,3383		23,393,1495	29	34	32		142	-0.8	0	12	dbSNP_107	32	2625,5633		421,1783,1925	yes	missense	XRCC6BP1	NM_033276.2	112	444,2176,3420	TT,TA,AA		31.7874,11.4861,25.3642	benign	48/247	58335626	3064,9016	1911	4129	6040	SO:0001583	missense	91419	exon1			TTCACCAGCAACC	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.142A>T	12.37:g.58335626A>T	ENSP00000300145:p.Ser48Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	74	31	0.418919	NM_033276	Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	790	0.3617216117216117	49	0.09959349593495935	126	0.34806629834254144	376	0.6573426573426573	239	0.3153034300791557	A	2.822	-0.244563	0.05906	0.114861	0.317874	ENSG00000166896	ENST00000300145	T	0.45668	0.89	4.84	-0.82	0.10826	Metallopeptidase, catalytic domain (1);	0.632459	0.17512	N	0.171578	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.32396	0.369	B	0.30179	0.112	T	0.38735	-0.9647	9	0.38643	T	0.18	.	7.8058	0.29202	0.23:0.5387:0.0:0.2314	rs3751325;rs17567908;rs17846076;rs17859073;rs52793950;rs58392225;rs3751325	48	Q9Y6H3	ATP23_HUMAN	C	48	ENSP00000300145:S48C	ENSP00000300145:S48C	S	+	1	0	XRCC6BP1	56621893	0.143000	0.22626	0.047000	0.18901	0.010000	0.07245	0.658000	0.24979	0.069000	0.16605	-1.236000	0.01555	AGC	A|0.640;T|0.360	0.360	strong		0.597	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		T	58335626	A	T	58335626	3	4	23	1	0	0	0	0	1	0	0	0	17455	188	7	5	144	5	XRCC6BP1	12	58335626	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	311645	58335626	75516269	3083	19539										
XRCC6BP1	91419	hgsc.bcm.edu	37	chr12	58350631	58350631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttatgcaagatatgctcaCagagactttgaaaaccgtga	8	8	1	4	rs10122	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:58350631C>T	ENST00000300145.3	+	6	824	c.699C>T	c.(697-699)caC>caT	p.H233H	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	233					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GATATGCTCACAGAGACTTTG	0.333													T|||	2763	0.551717	0.556	0.5447	5008	,	,		16308	0.7262		0.3668	False		,,,				2504	0.5613				p.H233H		Atlas-SNP	.											.	XRCC6BP1	22	.	0			c.C699T						PASS	.	T		1976,1670		558,860,405	107	99	101		699	-0.2	1	12	dbSNP_52	101	3063,5089		568,1927,1581	no	coding-synonymous	XRCC6BP1	NM_033276.2		1126,2787,1986	TT,TC,CC		37.5736,45.8036,42.7106		233/247	58350631	5039,6759	1823	4076	5899	SO:0001819	synonymous_variant	91419	exon6			TGCTCACAGAGAC	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.699C>T	12.37:g.58350631C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	97	47	0.484536	NM_033276	Q1RLM4|Q96E81	Silent	SNP	ENST00000300145.3	37	CCDS41802.1																																																																																			C|0.485;T|0.515	0.515	strong		0.333	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		T	58350631	C	T	58350631	2	4	23	1	0	0	0	0	0	0	0	1	17455	477	17	2		2	XRCC6BP1	12	58350631	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15005	58350631	75501264	3084	19540										
LRIG3	121227	hgsc.bcm.edu	37	chr12	59279660	59279660	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggcttttttagtaatagaAcggatccgatttccttggag	10	6	0	1	rs11172796	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:59279660A>T	ENST00000320743.3	-	10	1483	c.1197T>A	c.(1195-1197)cgT>cgA	p.R399R	LRIG3_ENST00000379141.4_Silent_p.R339R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	399					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TAGTAATAGAACGGATCCGAT	0.373			T	ROS1	NSCLC								T|||	964	0.192492	0.3722	0.1816	5008	,	,		16195	0.1567		0.0835	False		,,,				2504	0.1063				p.R399R		Atlas-SNP	.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	LRIG3,NS,haematopoietic_neoplasm,-1,1	LRIG3	120	1	0			c.T1197A						PASS	.	T	,	1412,2994	685.2+/-404.5	222,968,1013	161	180	174		1017,1197	-1	1	12	dbSNP_120	174	715,7885	786.3+/-407.6	27,661,3612	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	249,1629,4625	TT,TA,AA		8.314,32.0472,16.354	,	339/1060,399/1120	59279660	2127,10879	2203	4300	6503	SO:0001819	synonymous_variant	121227	exon10			AATAGAACGGATC	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1197T>A	12.37:g.59279660A>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	39	21	0.538462	NM_153377	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																			A|0.833;T|0.167	0.167	strong		0.373	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		T	59279660	A	T	59279660	2	4	23	1	0	0	0	0	0	0	0	1	8946	30	2	5		5	LRIG3	12	59279660	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	929029	59279660	74572235	3085	19541										
LRIG3	121227	hgsc.bcm.edu	37	chr12	59313248	59313248	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagcagagggagaacaacaGaagtacgtccaccataactt	9	10	0	3	rs12426969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:59313248G>A	ENST00000320743.3	-	1	523				RP11-150C16.1_ENST00000547590.1_RNA|LRIG3_ENST00000379141.4_Silent_p.L6L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3						otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GAGAACAACAGAAGTACGTCC	0.478			T	ROS1	NSCLC								A|||	404	0.0806709	0.0424	0.1686	5008	,	,		18317	0.0446		0.0994	False		,,,				2504	0.0879				p.L6L		Atlas-SNP	.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	LRIG3	120	.	0			c.C16T						PASS	.						68	56	60					12																	59313248		692	1591	2283	SO:0001627	intron_variant	121227	exon1			ACAACAGAAGTAC	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.236+532C>T	12.37:g.59313248G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	90	39	0.433333	NM_001136051	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																			G|0.903;A|0.097	0.097	strong		0.478	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		A	59313248	G	A	59313248	1	1	23	0	1	0	0	0	0	0	0	0	8946	933	33	2		2	LRIG3	12	59313248	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33588	59313248	74538647	3086	19542										
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062023	64062023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccggggaggacctccaggAgccccttggcagtttcccgc	13	17	0	0	rs10878073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:64062023A>C	ENST00000324472.4	-	1	334	c.151T>G	c.(151-153)Tcc>Gcc	p.S51A	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	51			S -> A (in dbSNP:rs10878073). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GACCTCCAGGAGCCCCTTGGC	0.642													a|||	1979	0.395168	0.4425	0.2565	5008	,	,		15241	0.5714		0.1978	False		,,,				2504	0.4509				p.S51A		Atlas-SNP	.											.	DPY19L2	97	.	0			c.T151G						PASS	.	A	ALA/SER	1708,2698		318,1072,813	43	53	49		151	-2.2	0	12	dbSNP_120	49	1715,6881		177,1361,2760	yes	missense	DPY19L2	NM_173812.4	99	495,2433,3573	CC,CA,AA		19.9511,38.7653,26.3267	benign	51/759	64062023	3423,9579	2203	4298	6501	SO:0001583	missense	283417	exon1			TCCAGGAGCCCCT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.151T>G	12.37:g.64062023A>C	ENSP00000315988:p.Ser51Ala	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	155	64	0.412903	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	748	0.3424908424908425	180	0.36585365853658536	98	0.27071823204419887	324	0.5664335664335665	146	0.19261213720316622	a	2.066	-0.414146	0.04766	0.387653	0.199511	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.32753	1.44;2.38	1.61	-2.25	0.06888	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.43893	-0.9363	7	.	.	.	.	7.1276	0.25482	0.6882:0.3118:0.0:0.0	rs10878073;rs10878073	51	Q6NUT2	D19L2_HUMAN	A	51	ENSP00000315988:S51A;ENSP00000444932:S51A	.	S	-	1	0	DPY19L2	62348290	0.378000	0.25114	0.010000	0.14722	0.014000	0.08584	-0.429000	0.06982	-0.692000	0.05128	-1.193000	0.01689	TCC	A|0.717;C|0.283	0.283	strong		0.642	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	64062023	A	C	64062023	3	2	23	1	0	0	0	0	1	0	0	0	4741	304	11	5	2213	5	DPY19L2	12	64062023	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4748775	64062023	69789872	3087	19543			16	85		4	4	110	N	T_G_A	7.686924e-07
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062052	64062052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagtttcccgccgcctaggGccgacttttccatctcctcc	8	18	1	0	rs10878074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:64062052G>A	ENST00000324472.4	-	1	305	c.122C>T	c.(121-123)gCc>gTc	p.A41V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	41			A -> V (in dbSNP:rs10878074). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCCGCCTAGGGCCGACTTTTC	0.657													G|||	1979	0.395168	0.4425	0.2565	5008	,	,		14964	0.5714		0.1978	False		,,,				2504	0.4509				p.A41V		Atlas-SNP	.											.	DPY19L2	97	.	0			c.C122T						PASS	.	G	VAL/ALA	1679,2717		309,1061,828	32	41	38		122	-0.6	0	12	dbSNP_120	38	1704,6888		179,1346,2771	yes	missense	DPY19L2	NM_173812.4	64	488,2407,3599	AA,AG,GG		19.8324,38.1938,26.0471	benign	41/759	64062052	3383,9605	2198	4296	6494	SO:0001583	missense	283417	exon1			CCTAGGGCCGACT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.122C>T	12.37:g.64062052G>A	ENSP00000315988:p.Ala41Val	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	146	60	0.410959	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	766	0.3507326007326007	189	0.38414634146341464	99	0.27348066298342544	330	0.5769230769230769	148	0.19525065963060687	G	4.869	0.161472	0.09287	0.381938	0.198324	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.39787	1.06;1.82	1.61	-0.623	0.11556	.	0.555051	0.14868	N	0.293715	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.04013	0.001	T	0.44937	-0.9295	8	.	.	.	.	2.4499	0.04516	0.2454:0.3274:0.4272:0.0	rs10878074	41	Q6NUT2	D19L2_HUMAN	V	41	ENSP00000315988:A41V;ENSP00000444932:A41V	.	A	-	2	0	DPY19L2	62348319	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.946000	0.29069	-0.190000	0.10465	0.195000	0.17529	GCC	G|0.718;A|0.282	0.282	strong		0.657	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64062052	G	A	64062052	3	1	23	1	0	0	0	0	1	0	0	0	4741	1203	42	2	2242	2	DPY19L2	12	64062052	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	29	64062052	69789843	3088	19544			16	85		4	4	110	N	T_G_A	7.686924e-07
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062065	64062065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctagggccgacttttccaTctcctcctctacctccggct	7	18	2	0	rs10878075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:64062065T>C	ENST00000324472.4	-	1	292	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	37			M -> V (in dbSNP:rs10878075). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GACTTTTCCATCTCCTCCTCT	0.642													C|||	1980	0.395367	0.4433	0.2565	5008	,	,		14843	0.5714		0.1978	False		,,,				2504	0.4509				p.M37V		Atlas-SNP	.											.	DPY19L2	97	.	0			c.A109G						PASS	.	C	VAL/MET	1659,2729		308,1043,843	28	36	34		109	0.6	0	12	dbSNP_120	34	1695,6897		179,1337,2780	no	missense	DPY19L2	NM_173812.4	21	487,2380,3623	CC,CT,TT		19.7277,37.8077,25.8398	benign	37/759	64062065	3354,9626	2194	4296	6490	SO:0001583	missense	283417	exon1			TTTCCATCTCCTC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.109A>G	12.37:g.64062065T>C	ENSP00000315988:p.Met37Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	140	52	0.371429	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	767	0.35119047619047616	189	0.38414634146341464	99	0.27348066298342544	331	0.5786713286713286	148	0.19525065963060687	C	1.696	-0.502757	0.04261	0.378077	0.197277	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.34072	1.38;1.99	1.61	0.65	0.17812	.	1.705710	0.04502	N	0.381454	T	0.00012	0.0000	N	0.03608	-0.345	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	8	.	.	.	.	2.3121	0.04189	0.2942:0.512:0.0:0.1938	rs10878075;rs10878075	37	Q6NUT2	D19L2_HUMAN	V	37	ENSP00000315988:M37V;ENSP00000444932:M37V	.	M	-	1	0	DPY19L2	62348332	0.000000	0.05858	0.007000	0.13788	0.027000	0.11550	-1.353000	0.02617	-0.139000	0.11414	-1.063000	0.02288	ATG	T|0.711;C|0.289	0.289	strong		0.642	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		C	64062065	T	C	64062065	3	2	23	1	0	0	0	0	1	0	0	0	4741	1435	50	2	2255	2	DPY19L2	12	64062065	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	13	64062065	69789830	3089	19545			16	85		4	4	110	N	T_G_A	7.686924e-07
DPY19L2	283417	hgsc.bcm.edu	37	chr12	64062132	64062132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttagactggctgcggccGgaagattgcagccgctttga	13	12	0	3	rs11175111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:64062132G>A	ENST00000324472.4	-	1	225	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	14					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGCTGCGGCCGGAAGATTGCA	0.617													G|||	457	0.091254	0.121	0.0231	5008	,	,		14854	0.1329		0.0119	False		,,,				2504	0.138				p.S14S		Atlas-SNP	.											.	DPY19L2	97	.	0			c.C42T						PASS	.	G		338,3996		13,312,1842	12	15	14		42	0.5	0	12	dbSNP_120	14	130,8398		1,128,4135	no	coding-synonymous	DPY19L2	NM_173812.4		14,440,5977	AA,AG,GG		1.5244,7.7988,3.6386		14/759	64062132	468,12394	2167	4264	6431	SO:0001819	synonymous_variant	283417	exon1			GCGGCCGGAAGAT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.42C>T	12.37:g.64062132G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	64	18	0.28125	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	CCDS31851.1																																																																																			G|0.957;A|0.043	0.043	strong		0.617	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64062132	G	A	64062132	2	1	23	1	0	0	0	0	0	0	0	1	4741	1103	39	1		1	DPY19L2	12	64062132	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	67	64062132	69789763	3090	19546			16	85		4	4	110	N	T_G_A	7.686924e-07
TBK1	29110	hgsc.bcm.edu	37	chr12	64849716	64849716	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccaaggagctactgcaaaTgtctttcgtggaagacataa	11	8	1	1	rs41292019	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:64849716T>C	ENST00000331710.5	+	2	405	c.66T>C	c.(64-66)aaT>aaC	p.N22N		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTACTGCAAATGTCTTTCGTG	0.378													T|||	60	0.0119808	0.0015	0.0115	5008	,	,		19971	0.0		0.0318	False		,,,				2504	0.0184				p.N22N		Atlas-SNP	.											.	TBK1	149	.	0			c.T66C						PASS	.	T		44,4362	47.5+/-82.1	0,44,2159	84	79	81		66	5	1	12	dbSNP_127	81	410,8190	128.8+/-187.0	12,386,3902	no	coding-synonymous	TBK1	NM_013254.3		12,430,6061	CC,CT,TT		4.7674,0.9986,3.4907		22/730	64849716	454,12552	2203	4300	6503	SO:0001819	synonymous_variant	29110	exon2			TGCAAATGTCTTT	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.66T>C	12.37:g.64849716T>C		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	151	64	0.423841	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	ENST00000331710.5	37	CCDS8968.1																																																																																			T|0.970;C|0.030	0.030	strong		0.378	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		C	64849716	T	C	64849716	2	2	23	1	0	0	0	0	0	0	0	1	15634	1461	51	2		2	TBK1	12	64849716	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	787584	64849716	69002179	3091	19547										
MDM1	56890	hgsc.bcm.edu	37	chr12	68709892	68709892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctctgatgttgctactaaCggttccttctgagcttgtgg	11	9	2	2	rs17224810	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:68709892C>T	ENST00000303145.7	-	8	1233	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	MDM1_ENST00000540418.1_Missense_Mutation_p.V103I|MDM1_ENST00000411698.2_Missense_Mutation_p.V348I	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	383			V -> I (in dbSNP:rs17224810).		retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTGCTACTAACGGTTCCTTCT	0.408													C|||	687	0.137181	0.059	0.3098	5008	,	,		19331	0.1131		0.1859	False		,,,				2504	0.0951				p.V383I		Atlas-SNP	.											MDM1,caecum,carcinoma,+1,1	MDM1	74	1	0			c.G1147A						scavenged	.	C	ILE/VAL,ILE/VAL	396,4010	197.1+/-221.3	19,358,1826	86	80	82		1042,1147	-6.2	0	12	dbSNP_123	82	1678,6922	307.6+/-308.5	189,1300,2811	yes	missense,missense	MDM1	NM_001205028.1,NM_017440.4	29,29	208,1658,4637	TT,TC,CC		19.5116,8.9877,15.9465	benign,benign	348/680,383/715	68709892	2074,10932	2203	4300	6503	SO:0001583	missense	56890	exon8			TACTAACGGTTCC	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1147G>A	12.37:g.68709892C>T	ENSP00000302537:p.Val383Ile	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	179	77	0.430168	NM_017440	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	320	0.14652014652014653	26	0.052845528455284556	94	0.2596685082872928	66	0.11538461538461539	134	0.17678100263852242	C	0.004	-2.246298	0.00271	0.089877	0.195116	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.19105	2.17;2.17;2.17	5.77	-6.15	0.02105	.	0.637167	0.15333	N	0.267906	T	0.00012	0.0000	N	0.04203	-0.255	0.34656	P	0.27787300000000004	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.41413	-0.9510	8	.	.	.	-2.47	15.5588	0.76223	0.0:0.5298:0.0:0.4702	rs17224810;rs52820856;rs56563436;rs56944808;rs17224810	348;383	E7EPQ3;Q8TC05	.;MDM1_HUMAN	I	103;383;348	ENSP00000443815:V103I;ENSP00000302537:V383I;ENSP00000391006:V348I	.	V	-	1	0	MDM1	66996159	0.310000	0.24527	0.043000	0.18650	0.010000	0.07245	-0.243000	0.08915	-1.379000	0.02118	-2.048000	0.00412	GTT	C|0.857;T|0.143	0.143	strong		0.408	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		T	68709892	C	T	68709892	3	4	23	1	0	0	0	0	1	0	0	0	9412	536	19	1	1025	1	MDM1	12	68709892	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3860176	68709892	65142003	3092	19548										
CPM	1368	hgsc.bcm.edu	37	chr12	69260779	69260779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacagcatgacagctccaaCgtaatttcaaaacactgggc	7	11	1	1	rs33925480	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:69260779C>T	ENST00000551568.1	-	7	897	c.837G>A	c.(835-837)acG>acA	p.T279T	CPM_ENST00000546373.1_Silent_p.T279T|CPM_ENST00000338356.3_Silent_p.T279T	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	279					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACAGCTCCAACGTAATTTCAA	0.383													C|||	334	0.0666933	0.0129	0.0807	5008	,	,		19671	0.0159		0.1342	False		,,,				2504	0.1125				p.T279T		Atlas-SNP	.											.	CPM	30	.	0			c.G837A						PASS	.	C	,,	145,4261	100.7+/-139.4	2,141,2060	105	101	102		837,837,837	-11.1	0	12	dbSNP_126	102	1174,7426	240.1+/-271.0	81,1012,3207	no	coding-synonymous,coding-synonymous,coding-synonymous	CPM	NM_001005502.2,NM_001874.4,NM_198320.3	,,	83,1153,5267	TT,TC,CC		13.6512,3.291,10.1415	,,	279/444,279/444,279/444	69260779	1319,11687	2203	4300	6503	SO:0001819	synonymous_variant	1368	exon7			CTCCAACGTAATT	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.837G>A	12.37:g.69260779C>T		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	253	139	0.549407	NM_001005502	B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	CCDS8987.1	142	0.06501831501831502	4	0.008130081300813009	37	0.10220994475138122	6	0.01048951048951049	95	0.12532981530343007	C	6.995	0.553768	0.13374	0.03291	0.136512	ENSG00000135678	ENST00000551897	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	0.9999999999999961	.	.	.	.	.	.	T	0.05869	-1.0859	3	.	.	.	-16.4712	9.2735	0.37686	0.1531:0.0757:0.0795:0.6918	rs33925480	.	.	.	H	82	.	.	R	-	2	0	CPM	67547046	0.000000	0.05858	0.019000	0.16419	0.860000	0.49131	-3.148000	0.00583	-2.582000	0.00461	-0.890000	0.02929	CGT	C|0.903;T|0.097	0.097	strong		0.383	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		T	69260779	C	T	69260779	2	4	23	1	0	0	0	0	0	0	0	1	3808	523	19	1		1	CPM	12	69260779	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	550887	69260779	64591116	3093	19549										
CPSF6	11052	hgsc.bcm.edu	37	chr12	69646914	69646914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataaaattttttgaaaatcgGgcaaatggccagtcaaaggg	10	5	1	1	rs2305641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:69646914G>A	ENST00000435070.2	+	3	464	c.354G>A	c.(352-354)cgG>cgA	p.R118R	CPSF6_ENST00000266679.8_Silent_p.R118R|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.R118R|CPSF6_ENST00000550987.1_3'UTR	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	118	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTGAAAATCGGGCAAATGGCC	0.318													G|||	2147	0.428714	0.4607	0.4236	5008	,	,		17172	0.4395		0.4284	False		,,,				2504	0.3783				p.R118R		Atlas-SNP	.											.	CPSF6	96	.	0			c.G354A						PASS	.	G		1972,2432	536.2+/-374.4	456,1060,686	58	62	61		354	0.3	1	12	dbSNP_100	61	3769,4827	527.8+/-381.2	826,2117,1355	no	coding-synonymous	CPSF6	NM_007007.2		1282,3177,2041	AA,AG,GG		43.846,44.7775,44.1615		118/552	69646914	5741,7259	2202	4298	6500	SO:0001819	synonymous_variant	11052	exon3			AAATCGGGCAAAT	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.354G>A	12.37:g.69646914G>A		Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	300	136	0.453333	NM_007007	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	37	CCDS8988.1																																																																																			G|0.568;A|0.432	0.432	strong		0.318	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		A	69646914	G	A	69646914	2	1	23	1	0	0	0	0	0	0	0	1	3829	1219	43	2		2	CPSF6	12	69646914	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	386135	69646914	64204981	3094	19550										
PTPRB	5787	hgsc.bcm.edu	37	chr12	70928616	70928616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagcaagctaacatacaccGcatatcttaaactcccggat	5	13	1	0	rs3752703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:70928616G>A	ENST00000261266.5	-	28	5576	c.5547C>T	c.(5545-5547)tgC>tgT	p.C1849C	PTPRB_ENST00000538708.1_Silent_p.C1759C|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000334414.6_Silent_p.C2067C|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Silent_p.C1759C|PTPRB_ENST00000451516.2_Silent_p.C1759C|PTPRB_ENST00000550358.1_Silent_p.C1979C|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1849	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACATACACCGCATATCTTAA	0.527													G|||	1961	0.391573	0.4539	0.3357	5008	,	,		19377	0.5278		0.3062	False		,,,				2504	0.2945				p.C2067C		Atlas-SNP	.											PTPRB_ENST00000334414,colon,carcinoma,0,3	PTPRB	676	3	0			c.C6201T						PASS	.	G	,,,	1625,2281		339,947,667	64	63	63		6201,5277,5277,5547	5.5	1	12	dbSNP_107	63	2611,5703		423,1765,1969	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	,,,	762,2712,2636	AA,AG,GG		31.4049,41.6027,34.6645	,,,	2067/2216,1759/1908,1759/1908,1849/1998	70928616	4236,7984	1953	4157	6110	SO:0001819	synonymous_variant	5787	exon30			TACACCGCATATC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5547C>T	12.37:g.70928616G>A		Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	92	92	1	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																			G|0.613;A|0.387	0.387	strong		0.527	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			A	70928616	G	A	70928616	2	1	23	1	0	0	0	0	0	0	0	1	12796	1079	38	1		1	PTPRB	12	70928616	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1281702	70928616	62923279	3095	19551										
PTPRB	5801	hgsc.bcm.edu	37	chr12	71029733	71029733	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacatgaaggagcttttcatCctcagtccacatccactgct	6	13	2	1	rs2584021	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:71029733C>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000551525.1_Missense_Mutation_p.D56N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.D57N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D57N|PTPRR_ENST00000537619.2_5'Flank	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGCTTTTCATCCTCAGTCCAC	0.527													C|||	1271	0.253794	0.2436	0.3026	5008	,	,		16560	0.4028		0.0547	False		,,,				2504	0.2843				p.D57N		Atlas-SNP	.											.	PTPRB	676	.	0			c.G169A						PASS	.	C	ASN/ASP	761,3317		68,625,1346	87	88	88		169	3.9	1	12	dbSNP_100	88	586,7772		20,546,3613	yes	missense	PTPRB	NM_001109754.2	23	88,1171,4959	TT,TC,CC		7.0112,18.6611,10.8315	possibly-damaging	57/2216	71029733	1347,11089	2039	4179	6218	SO:0001628	intergenic_variant	5787	exon2			TTTCATCCTCAGT	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029733C>T		Somatic	328	0	0		WXS	Illumina HiSeq	Phase_I	335	168	0.501493	NM_001109754	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	484	0.2216117216117216	128	0.2601626016260163	83	0.2292817679558011	234	0.4090909090909091	39	0.051451187335092345	C	15.77	2.930632	0.52866	0.186611	0.070112	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	T;T;T;T	0.33654	1.74;1.74;1.74;1.4	5.82	3.92	0.45320	.	.	.	.	.	T	0.00012	0.0000	N	0.17082	0.46	0.09310	P	1.0	B;B;B;B;B	0.24258	0.004;0.1;0.006;0.006;0.006	B;B;B;B;B	0.26094	0.004;0.066;0.009;0.005;0.005	T	0.44467	-0.9326	8	0.46703	T	0.11	.	11.1575	0.48497	0.0:0.8422:0.0:0.1578	rs2584021;rs56726799;rs2584021	57;57;56;57;57	Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.;.	N	57;57;57;56;57	ENSP00000334928:D57N;ENSP00000448058:D57N;ENSP00000448349:D56N;ENSP00000446982:D57N	ENSP00000334928:D57N	D	-	1	0	PTPRB	69316000	0.717000	0.27966	0.959000	0.39883	0.965000	0.64279	0.943000	0.29030	0.714000	0.32081	0.563000	0.77884	GAT	C|0.773;T|0.227	0.227	strong		0.527	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71029733	C	T	71029733	1	4	23	0	1	0	0	0	0	0	0	0	12796	855	30	2		2	PTPRB	12	71029733	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	101117	71029733	62822162	3096	19552										
THAP2	83591	hgsc.bcm.edu	37	chr12	72070506	72070508	+	In_Frame_Del	DEL	GTT	GTT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttttgaagaaaaacaacaGttgttctccagctggaccat					rs140783391	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:72070506_72070508delGTT	ENST00000308086.2	+	3	1806_1808	c.305_307delGTT	c.(304-309)agttgt>agt	p.C103del	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	103						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AAAAACAACAGTTGTTCTCCAGC	0.34														202	0.0403355	0.0113	0.0591	5008	,	,		19109	0.003		0.0507	False		,,,				2504	0.0941				p.102_102del		Pindel,Atlas-Indel	.											.	THAP2	29	.	0			c.304_306del						PASS	.			82,4182		2,78,2052						2	1		dbSNP_134	46	567,7685		14,539,3573	no	coding	THAP2	NM_031435.3		16,617,5625	A1A1,A1R,RR		6.8711,1.9231,5.1854				649,11867				SO:0001651	inframe_deletion	83591	exon3			.	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.305_307delGTT	12.37:g.72070509_72070511delGTT	ENSP00000310796:p.Cys103del	Somatic	117	.	.		WXS	Illumina HiSeq	Phase_I	108	37	0.343	NM_031435	B2R8P3	In_Frame_Del	DEL	ENST00000308086.2	37	CCDS9001.1																																																																																			GTT|0.969;-|0.031	0.031	strong		0.34	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		-	72070508	GTT	-	72070506	7	5	23	1	0	1	0	1	0	0	0	0	15841	1029	36	0	315	0	THAP2	12	72070506	In_Frame_Del	DEL	GTT	TCGA-GR-7353-01A-11D-2210-10	1040773	72070506	61781389	3097	19553										
TBC1D15	64786	hgsc.bcm.edu	37	chr12	72307616	72307616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctttttaggatatgttcaAggaatgagtgatttactttc	8	4	2	2	rs3759171	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:72307616A>G	ENST00000550746.1	+	13	1426	c.1362A>G	c.(1360-1362)caA>caG	p.Q454Q	TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Silent_p.Q437Q|TBC1D15_ENST00000319106.8_Silent_p.Q445Q|TBC1D15_ENST00000393309.3_Silent_p.Q208Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	454	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATATGTTCAAGGAATGAGTG	0.358													G|||	3334	0.665735	0.9349	0.5634	5008	,	,		16358	0.8819		0.2674	False		,,,				2504	0.5613				p.Q454Q		Atlas-SNP	.											.	TBC1D15	99	.	0			c.A1362G						PASS	.	G	,,	3753,653	262.5+/-264.9	1611,531,61	111	117	115		1311,1335,1362	1.8	1	12	dbSNP_107	115	2365,6235	680.3+/-403.6	345,1675,2280	yes	coding-synonymous,coding-synonymous,coding-synonymous	TBC1D15	NM_001146213.1,NM_001146214.1,NM_022771.4	,,	1956,2206,2341	GG,GA,AA		27.5,14.8207,47.0398	,,	437/675,445/683,454/692	72307616	6118,6888	2203	4300	6503	SO:0001819	synonymous_variant	64786	exon13			TGTTCAAGGAATG	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1362A>G	12.37:g.72307616A>G		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	69	22	0.318841	NM_022771	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	CCDS31858.1																																																																																			A|0.446;G|0.554	0.554	strong		0.358	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72307616	A	G	72307616	2	3	23	1	0	0	0	0	0	0	0	1	15601	69	3	3		3	TBC1D15	12	72307616	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	237110	72307616	61544279	3098	19554										
TBC1D15	64786	hgsc.bcm.edu	37	chr12	72307637	72307637	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaatgagtgatttactttcCcctcttttatatgtgatgga	9	6	1	3	rs11178983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:72307637C>G	ENST00000550746.1	+	13	1447	c.1383C>G	c.(1381-1383)tcC>tcG	p.S461S	TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Silent_p.S444S|TBC1D15_ENST00000319106.8_Silent_p.S452S|TBC1D15_ENST00000393309.3_Silent_p.S215S	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	461	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATTTACTTTCCCCTCTTTTAT	0.353													C|||	315	0.0628994	0.003	0.0346	5008	,	,		16596	0.0734		0.0606	False		,,,				2504	0.1554				p.S461S		Atlas-SNP	.											.	TBC1D15	99	.	0			c.C1383G						PASS	.	C	,,	81,4325	67.6+/-105.2	0,81,2122	131	136	134		1332,1356,1383	-6.5	0.6	12	dbSNP_120	134	661,7939	166.5+/-218.5	26,609,3665	no	coding-synonymous,coding-synonymous,coding-synonymous	TBC1D15	NM_001146213.1,NM_001146214.1,NM_022771.4	,,	26,690,5787	GG,GC,CC		7.686,1.8384,5.7051	,,	444/675,452/683,461/692	72307637	742,12264	2203	4300	6503	SO:0001819	synonymous_variant	64786	exon13			ACTTTCCCCTCTT	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1383C>G	12.37:g.72307637C>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	93	33	0.354839	NM_022771	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	CCDS31858.1																																																																																			C|0.947;G|0.053	0.053	strong		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72307637	C	G	72307637	2	3	23	1	0	0	0	0	0	0	0	1	15601	610	22	4		4	TBC1D15	12	72307637	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21	72307637	61544258	3099	19555										
TPH2	121278	hgsc.bcm.edu	37	chr12	72372862	72372862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagatcccctctacaccccAgaaccgtgagtacctacatt	5	16	2	3	rs7305115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:72372862A>G	ENST00000333850.3	+	7	1077	c.936A>G	c.(934-936)ccA>ccG	p.P312P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	312					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCTACACCCCAGAACCGTGAG	0.512													G|||	2713	0.541733	0.6044	0.4856	5008	,	,		17921	0.4494		0.5825	False		,,,				2504	0.5501				p.P312P		Atlas-SNP	.											TPH2,colon,carcinoma,+1,1	TPH2	81	1	0			c.A936G	GRCh37	CM077900	TPH2	M	rs7305115	PASS	.	G		2591,1815	531.5+/-373.2	766,1059,378	126	126	126		936	-10.5	0.1	12	dbSNP_116	126	4977,3623	522.3+/-380.1	1439,2099,762	no	coding-synonymous	TPH2	NM_173353.3		2205,3158,1140	GG,GA,AA		42.1279,41.1938,41.8115		312/491	72372862	7568,5438	2203	4300	6503	SO:0001819	synonymous_variant	121278	exon7			CACCCCAGAACCG	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.936A>G	12.37:g.72372862A>G		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	52	20	0.384615	NM_173353	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	CCDS31859.1																																																																																			A|0.439;G|0.561	0.561	strong		0.512	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72372862	A	G	72372862	2	3	23	1	0	0	0	0	0	0	0	1	16399	175	7	3		3	TPH2	12	72372862	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	65225	72372862	61479033	3100	19556										
CAPS2	84698	hgsc.bcm.edu	37	chr12	75715330	75715330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catttgtctgttggtgctggCaaattttcaggtattatgtt	10	5	2	0	rs10879901	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:75715330C>A	ENST00000409445.3	-	6	571	c.375G>T	c.(373-375)ttG>ttT	p.L125F	CAPS2_ENST00000409799.1_Missense_Mutation_p.L75F|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	125			L -> F (in dbSNP:rs10879901).				calcium ion binding (GO:0005509)	p.L125F(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTGGTGCTGGCAAATTTTCAG	0.299													C|||	997	0.199081	0.1808	0.1686	5008	,	,		18696	0.2321		0.2535	False		,,,				2504	0.1554				p.L125F		Atlas-SNP	.											CAPS2_ENST00000409445,NS,carcinoma,0,1	CAPS2	96	1	1	Substitution - Missense(1)	kidney(1)	c.G375T						PASS	.						226	160	180					12																	75715330		692	1590	2282	SO:0001583	missense	84698	exon6			TGCTGGCAAATTT	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.375G>T	12.37:g.75715330C>A	ENSP00000386959:p.Leu125Phe	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	160	78	0.4875	NM_032606	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	394	0.1804029304029304	55	0.11178861788617886	64	0.17679558011049723	104	0.18181818181818182	171	0.22559366754617413	C	15.49	2.848855	0.51164	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000552497;ENST00000436898	T;T;T;T	0.61627	1.14;0.55;0.15;0.09	5.15	-1.26	0.09376	.	0.137416	0.33040	N	0.005349	T	0.00039	0.0001	L	0.39245	1.2	0.09310	P	0.9999999999703258	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.12372	-1.0550	9	0.87932	D	0	0.013	5.7983	0.18399	0.1186:0.532:0.0:0.3495	rs10879901;rs52797522;rs56534596;rs61664370;rs10879901	125;75	Q9BXY5;B9A061	CAYP2_HUMAN;.	F	75;125;20;19	ENSP00000386977:L75F;ENSP00000386959:L125F;ENSP00000449797:L20F;ENSP00000411797:L19F	ENSP00000338474:L20F	L	-	3	2	CAPS2	74001597	0.960000	0.32886	0.960000	0.40013	0.620000	0.37586	-0.135000	0.10420	-0.482000	0.06782	-0.253000	0.11424	TTG	C|0.808;A|0.192	0.192	strong		0.299	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			A	75715330	C	A	75715330	3	1	23	1	0	0	0	0	1	0	0	0	2638	709	25	4	1350	4	CAPS2	12	75715330	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3342468	75715330	58136565	3101	19557										
KRR1	11103	hgsc.bcm.edu	37	chr12	75900588	75900588	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatgaaacactccttgctaAcagttttatcagatctctgg	6	9	2	2	rs2070162	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:75900588A>G	ENST00000229214.4	-	3	390	c.367T>C	c.(367-369)Tta>Cta	p.L123L	KRR1_ENST00000438169.2_Silent_p.L123L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	123					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTCCTTGCTAACAGTTTTATC	0.388													A|||	1163	0.232228	0.1936	0.3588	5008	,	,		17068	0.121		0.2336	False		,,,				2504	0.3078				p.L123L		Atlas-SNP	.											.	KRR1	37	.	0			c.T367C						PASS	.	A		898,3508	345.4+/-308.5	99,700,1404	125	120	122		367	5.5	1	12	dbSNP_96	122	2145,6455	367.7+/-334.8	271,1603,2426	no	coding-synonymous	KRR1	NM_007043.6		370,2303,3830	GG,GA,AA		24.9419,20.3813,23.3969		123/382	75900588	3043,9963	2203	4300	6503	SO:0001819	synonymous_variant	11103	exon3			TTGCTAACAGTTT	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.367T>C	12.37:g.75900588A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	94	47	0.5	NM_007043	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	ENST00000229214.4	37	CCDS9012.1																																																																																			A|0.777;G|0.223	0.223	strong		0.388	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		G	75900588	A	G	75900588	2	3	23	1	0	0	0	0	0	0	0	1	8446	40	2	2		2	KRR1	12	75900588	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	185258	75900588	57951307	3102	19558										
NAV3	89795	hgsc.bcm.edu	37	chr12	78400884	78400884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaaggaaagcttaattccGtcttccagtggtattccaaa	8	8	1	1	rs34276383	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:78400884G>A	ENST00000397909.2	+	8	1739	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	NAV3_ENST00000228327.6_Silent_p.P522P|NAV3_ENST00000266692.7_Silent_p.P522P|NAV3_ENST00000536525.2_Silent_p.P522P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	522						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P522P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTAATTCCGTCTTCCAGTG	0.448										HNSCC(70;0.22)			A|||	744	0.148562	0.0908	0.1095	5008	,	,		19238	0.2143		0.1322	False		,,,				2504	0.2035				p.P522P		Atlas-SNP	.											NAV3,NS,carcinoma,0,1	NAV3	506	1	1	Substitution - coding silent(1)	stomach(1)	c.G1566A						PASS	.	A		405,3417		31,343,1537	66	66	66		1566	-5.4	0.7	12	dbSNP_126	66	1037,7193		61,915,3139	no	coding-synonymous	NAV3	NM_014903.4		92,1258,4676	AA,AG,GG		12.6002,10.5965,11.9648		522/2364	78400884	1442,10610	1911	4115	6026	SO:0001819	synonymous_variant	89795	exon8			AATTCCGTCTTCC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1566G>A	12.37:g.78400884G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	31	14	0.451613	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37																																																																																				G|0.867;A|0.133	0.133	strong		0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78400884	G	A	78400884	2	1	23	1	0	0	0	0	0	0	0	1	10185	1132	40	1		1	NAV3	12	78400884	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2500296	78400884	55451011	3103	19559										
PPFIA2	8499	hgsc.bcm.edu	37	chr12	81769581	81769581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagatactgaacctgccgCaggatagcttctttatttgc	9	10	1	2	rs10862301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:81769581C>T	ENST00000549396.1	-	10	1285	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	PPFIA2_ENST00000333447.7_Silent_p.L357L|PPFIA2_ENST00000552948.1_Silent_p.L375L|PPFIA2_ENST00000549325.1_Silent_p.L357L|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Silent_p.L375L|PPFIA2_ENST00000407050.4_Silent_p.L301L|PPFIA2_ENST00000548586.1_Silent_p.L375L|PPFIA2_ENST00000443686.3_Silent_p.L276L|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000550359.2_Silent_p.L222L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	375	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAACCTGCCGCAGGATAGCTT	0.403													T|||	2232	0.445687	0.5673	0.402	5008	,	,		16197	0.5387		0.2724	False		,,,				2504	0.3947				p.L375L		Atlas-SNP	.											.	PPFIA2	207	.	0			c.G1125A						PASS	.	T	,,,,,,	1778,2016		402,974,521	150	147	148		1125,1071,1125,1125,903,828,1125	-5.7	0.8	12	dbSNP_120	148	2059,6149		257,1545,2302	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_003625.3	,,,,,,	659,2519,2823	TT,TC,CC		25.0853,46.8635,31.9697	,,,,,,	375/1248,357/1233,375/1237,375/1252,301/1157,276/1153,375/1258	81769581	3837,8165	1897	4104	6001	SO:0001819	synonymous_variant	8499	exon9			CTGCCGCAGGATA	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1125G>A	12.37:g.81769581C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	174	89	0.511494	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1	955	0.43727106227106227	287	0.5833333333333334	138	0.3812154696132597	323	0.5646853146853147	207	0.27308707124010556	T	6.490	0.458611	0.12342	0.468635	0.250853	ENSG00000139220	ENST00000548790	.	.	.	5.45	-5.72	0.02406	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999899829	.	.	.	.	.	.	T	0.44817	-0.9303	3	.	.	.	-3.6027	3.7466	0.08551	0.0904:0.3488:0.2767:0.2841	rs10862301;rs52801936;rs57160712;rs10862301	.	.	.	Y	193	.	.	C	-	2	0	PPFIA2	80293712	0.378000	0.25114	0.806000	0.32338	0.739000	0.42172	-0.501000	0.06398	-1.195000	0.02680	-1.811000	0.00612	TGC	C|0.573;N|0.000	.	strong		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			T	81769581	C	T	81769581	2	4	23	1	0	0	0	0	0	0	0	1	12310	697	25	2		2	PPFIA2	12	81769581	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3368697	81769581	52082314	3104	19560										
C12orf26	84190	hgsc.bcm.edu	37	chr12	82752543	82752543	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcgctgaggaagtcagcgTcggagacggaggccctgccc	16	13	1	2	rs112592060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:82752543T>G	ENST00000248306.3	+	1	268	c.199T>G	c.(199-201)Tcg>Gcg	p.S67A	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR|CCDC59_ENST00000548126.1_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	67							methyltransferase activity (GO:0008168)										GAAGTCAGCGTCGGAGACGGA	0.642											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	212	0.0423323	0.0182	0.0591	5008	,	,		14159	0.002		0.0805	False		,,,				2504	0.0654				p.S67A		Atlas-SNP	.											.	.	.	.	0			c.T199G						PASS	.	T	ALA/SER	140,4266	94.8+/-133.5	3,134,2066	55	51	52		199	0.6	0	12	dbSNP_132	52	811,7789	183.9+/-232.0	43,725,3532	yes	missense	C12orf26	NM_032230.2	99	46,859,5598	GG,GT,TT		9.4302,3.1775,7.312	benign	67/604	82752543	951,12055	2203	4300	6503	SO:0001583	missense	84190	exon1			TCAGCGTCGGAGA	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.199T>G	12.37:g.82752543T>G	ENSP00000248306:p.Ser67Ala	Somatic	278	0	0	1216	WXS	Illumina HiSeq	Phase_I	224	80	0.357143	NM_032230	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	89	0.04075091575091575	11	0.022357723577235773	22	0.06077348066298342	1	0.0017482517482517483	55	0.07255936675461741	T	0.966	-0.701842	0.03255	0.031775	0.094302	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.29655	1.56	3.86	0.59	0.17458	.	1.506270	0.05197	N	0.504215	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.07813	T	0.8	0.4847	6.1071	0.20079	0.0:0.1738:0.4342:0.3919	.	67	Q8N6Q8	CL026_HUMAN	A	67	ENSP00000248306:S67A	ENSP00000248306:S67A	S	+	1	0	C12orf26	81276674	0.016000	0.18221	0.014000	0.15608	0.116000	0.19942	0.707000	0.25704	0.280000	0.22209	-0.219000	0.12488	TCG	T|0.938;G|0.062	0.062	strong		0.642	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		G	82752543	T	G	82752543	3	3	23	1	0	0	0	0	1	0	0	0	1679	1667	58	5	201	5	C12orf26	12	82752543	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	982962	82752543	51099352	3105	19561										
C12orf26	84190	hgsc.bcm.edu	37	chr12	82752559	82752559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgtcggagacggaggcccTgccctcagagacgcgccccc	14	17	1	2	rs113882703	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:82752559T>G	ENST00000248306.3	+	1	284	c.215T>G	c.(214-216)cTg>cGg	p.L72R	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR|CCDC59_ENST00000548126.1_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	72							methyltransferase activity (GO:0008168)										ACGGAGGCCCTGCCCTCAGAG	0.657											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	212	0.0423323	0.0182	0.0591	5008	,	,		13342	0.002		0.0805	False		,,,				2504	0.0654				p.L72R		Atlas-SNP	.											.	.	.	.	0			c.T215G						PASS	.	T	ARG/LEU	139,4267	93.0+/-131.7	3,133,2067	42	41	41		215	-5.2	0	12	dbSNP_132	41	806,7794	179.0+/-228.3	43,720,3537	yes	missense	C12orf26	NM_032230.2	102	46,853,5604	GG,GT,TT		9.3721,3.1548,7.2659	benign	72/604	82752559	945,12061	2203	4300	6503	SO:0001583	missense	84190	exon1			AGGCCCTGCCCTC	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.215T>G	12.37:g.82752559T>G	ENSP00000248306:p.Leu72Arg	Somatic	293	0	0	1216	WXS	Illumina HiSeq	Phase_I	247	92	0.37247	NM_032230	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	88	0.040293040293040296	11	0.022357723577235773	22	0.06077348066298342	1	0.0017482517482517483	54	0.0712401055408971	T	4.504	0.093403	0.08632	0.031548	0.093721	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.31510	1.49	5.0	-5.17	0.02849	.	1.825470	0.02815	N	0.124811	T	0.00271	0.0008	N	0.00500	-1.43	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12967	-1.0527	10	0.23302	T	0.38	.	1.2997	0.02077	0.4643:0.162:0.1738:0.1999	.	72	Q8N6Q8	CL026_HUMAN	R	72	ENSP00000248306:L72R	ENSP00000248306:L72R	L	+	2	0	C12orf26	81276690	.	.	0.000000	0.03702	0.019000	0.09904	.	.	-0.704000	0.05042	-0.767000	0.03436	CTG	T|0.939;G|0.061	0.061	strong		0.657	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		G	82752559	T	G	82752559	3	3	23	1	0	0	0	0	1	0	0	0	1679	1580	55	5	217	5	C12orf26	12	82752559	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	16	82752559	51099336	3106	19562										
C12orf26	84190	hgsc.bcm.edu	37	chr12	82792666	82792666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaattgattcttcaaatacCaatactcatggagctgagga	9	7	3	2	rs10506872	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:82792666C>T	ENST00000248306.3	+	4	693	c.624C>T	c.(622-624)acC>acT	p.T208T	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	208							methyltransferase activity (GO:0008168)										CTTCAAATACCAATACTCATG	0.363													C|||	212	0.0423323	0.0189	0.0591	5008	,	,		13940	0.002		0.0805	False		,,,				2504	0.0644				p.T208T		Atlas-SNP	.											.	.	.	.	0			c.C624T						PASS	.	C		147,4259	99.4+/-138.0	3,141,2059	48	47	47		624	0.9	0.9	12	dbSNP_119	47	818,7780	186.0+/-233.6	43,732,3524	no	coding-synonymous	C12orf26	NM_032230.2		46,873,5583	TT,TC,CC		9.5138,3.3364,7.4208		208/604	82792666	965,12039	2203	4299	6502	SO:0001819	synonymous_variant	84190	exon4			AAATACCAATACT	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.624C>T	12.37:g.82792666C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_032230	Q9H5Y3	Silent	SNP	ENST00000248306.3	37	CCDS9024.1	89	0.04075091575091575	11	0.022357723577235773	22	0.06077348066298342	1	0.0017482517482517483	55	0.07255936675461741	C	7.250	0.603078	0.13939	0.033364	0.095138	ENSG00000127720	ENST00000550058	.	.	.	5.3	0.871	0.19107	.	.	.	.	.	T	0.02342	0.0072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00896	-1.1523	4	.	.	.	-0.1742	7.0117	0.24865	0.1109:0.5787:0.0:0.3105	rs10506872;rs17774639;rs10506872	.	.	.	L	167	.	.	P	+	2	0	C12orf26	81316797	1.000000	0.71417	0.941000	0.38009	0.953000	0.61014	0.943000	0.29030	-0.274000	0.09232	-1.128000	0.01989	CCA	C|0.955;T|0.045	0.045	strong		0.363	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		T	82792666	C	T	82792666	2	4	23	1	0	0	0	0	0	0	0	1	1679	581	21	2		2	C12orf26	12	82792666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40107	82792666	51059229	3107	19563										
C12orf26	84190	hgsc.bcm.edu	37	chr12	82792792	82792792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagaaaggaaagtgcaaaaTaaagttaaaaataaagctga	8	2	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:82792792T>G	ENST00000248306.3	+	4	819	c.750T>G	c.(748-750)aaT>aaG	p.N250K	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	250							methyltransferase activity (GO:0008168)										AAGTGCAAAATAAAGTTAAAA	0.343																																					p.N250K		Atlas-SNP	.											.	.	.	.	0			c.T750G						PASS	.						60	57	58					12																	82792792		2203	4299	6502	SO:0001583	missense	84190	exon4			GCAAAATAAAGTT	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.750T>G	12.37:g.82792792T>G	ENSP00000248306:p.Asn250Lys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	31	11	0.354839	NM_032230	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	0.058	-1.231429	0.01505	.	.	ENSG00000127720	ENST00000248306	T	0.29142	1.58	5.39	-0.792	0.10925	.	1.047890	0.07359	N	0.883727	T	0.07548	0.0190	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.05525	T	0.97	-2.823	1.9271	0.03319	0.1244:0.1816:0.1292:0.5648	.	250	Q8N6Q8	CL026_HUMAN	K	250	ENSP00000248306:N250K	ENSP00000248306:N250K	N	+	3	2	C12orf26	81316923	0.162000	0.22906	0.000000	0.03702	0.023000	0.10783	0.214000	0.17541	-0.265000	0.09352	-0.418000	0.06021	AAT	.	.	none		0.343	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		G	82792792	T	G	82792792	3	3	23	1	0	0	0	0	1	0	0	0	1679	1403	49	5	764	5	C12orf26	12	82792792	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	126	82792792	51059103	3108	19564										
SLC6A15	55117	hgsc.bcm.edu	37	chr12	85257230	85257230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatttaccttatcttcaatCcatgcgttatagccaggagg	8	9	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:85257230C>A	ENST00000266682.5	-	11	2347	c.1806G>T	c.(1804-1806)tgG>tgT	p.W602C	SLC6A15_ENST00000309283.7_Missense_Mutation_p.W310C|SLC6A15_ENST00000552192.1_Missense_Mutation_p.W495C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	602					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATCTTCAATCCATGCGTTAT	0.303																																					p.W602C		Atlas-SNP	.											.	SLC6A15	159	.	0			c.G1806T						PASS	.						85	91	89					12																	85257230		2203	4296	6499	SO:0001583	missense	55117	exon11			TTCAATCCATGCG	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1806G>T	12.37:g.85257230C>A	ENSP00000266682:p.Trp602Cys	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	241	76	0.315353	NM_182767	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283503	0.80803	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000552192;ENST00000548267	T;T;T	0.75704	-0.96;-0.96;-0.96	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92239	0.5799	10	0.87932	D	0	.	19.8516	0.96743	0.0:1.0:0.0:0.0	.	310;602	F8WJN6;Q9H2J7	.;S6A15_HUMAN	C	310;602;495;80	ENSP00000311645:W310C;ENSP00000266682:W602C;ENSP00000450145:W495C	ENSP00000266682:W602C	W	-	3	0	SLC6A15	83781361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.395000	0.79876	2.685000	0.91497	0.585000	0.79938	TGG	.	.	none		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		A	85257230	C	A	85257230	3	1	23	1	0	0	0	0	1	0	0	0	14678	856	30	4	394	4	SLC6A15	12	85257230	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2464438	85257230	48594665	3109	19565										
SLC6A15	55117	hgsc.bcm.edu	37	chr12	85277561	85277561	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgatttgcccacagaaaTctgtaacagaatttgagaga	10	6	1	5	rs17183577	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:85277561T>A	ENST00000266682.5	-	5	1298				SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.D278V|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCCACAGAAATCTGTAACAGA	0.348													T|||	374	0.0746805	0.0053	0.1599	5008	,	,		18044	0.0		0.2266	False		,,,				2504	0.0286				p.D278V		Atlas-SNP	.											.	SLC6A15	159	.	0			c.A833T						PASS	.	T	,VAL/ASP,	191,4215	121.3+/-158.8	7,177,2019	73	71	72		,833,	-0.4	0	12	dbSNP_123	72	1788,6812	314.9+/-312.0	196,1396,2708	yes	intron,missense,intron	SLC6A15	NM_001146335.1,NM_018057.5,NM_182767.4	,152,	203,1573,4727	AA,AT,TT		20.7907,4.335,15.2161	,,	,278/290,	85277561	1979,11027	2203	4300	6503	SO:0001627	intron_variant	55117	exon5			CAGAAATCTGTAA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.756+76A>T	12.37:g.85277561T>A		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	175	175	1	NM_018057	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	238	0.10897435897435898	2	0.0040650406504065045	59	0.16298342541436464	0	0.0	177	0.23350923482849603	T	7.764	0.705915	0.15172	0.04335	0.207907	ENSG00000072041	ENST00000450363	T	0.68479	-0.33	4.95	-0.422	0.12329	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09907	-1.0653	7	0.87932	D	0	.	1.2642	0.02007	0.2154:0.1912:0.1092:0.4842	rs17183577;rs52796771;rs17183577	278	Q9H9F5	.	V	278	ENSP00000390706:D278V	ENSP00000390706:D278V	D	-	2	0	SLC6A15	83801692	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.510000	0.22723	-0.439000	0.07222	-1.427000	0.01099	GAT	T|0.862;A|0.138	0.138	strong		0.348	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		A	85277561	T	A	85277561	1	1	23	0	1	0	0	0	0	0	0	0	14678	1435	50	5		5	SLC6A15	12	85277561	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20331	85277561	48574334	3110	19566										
LRRIQ1	84125	hgsc.bcm.edu	37	chr12	85450426	85450426	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcactctcactaacatcaGaaaattccaaagatgtaaga	5	9	3	3	rs74720621	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:85450426G>A	ENST00000393217.2	+	8	1916	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	619										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTAACATCAGAAAATTCCAA	0.284													G|||	17	0.00339457	0.0	0.0029	5008	,	,		17719	0.0		0.0149	False		,,,				2504	0.0				p.E619K		Atlas-SNP	.											.	LRRIQ1	512	.	0			c.G1855A						PASS	.	G	LYS/GLU	5,4371		0,5,2183	24	25	24		1855	5.3	0.2	12	dbSNP_132	24	96,8474		0,96,4189	yes	missense	LRRIQ1	NM_001079910.1	56	0,101,6372	AA,AG,GG		1.1202,0.1143,0.7802	possibly-damaging	619/1723	85450426	101,12845	2188	4285	6473	SO:0001583	missense	84125	exon8			ACATCAGAAAATT	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1855G>A	12.37:g.85450426G>A	ENSP00000376910:p.Glu619Lys	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	13	0.005952380952380952	0	0.0	1	0.0027624309392265192	0	0.0	12	0.0158311345646438	G	18.93	3.728055	0.69074	0.001143	0.011202	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53423	0.62	5.32	5.32	0.75619	.	0.664291	0.13539	N	0.380378	T	0.25606	0.0623	L	0.29908	0.895	0.29964	N	0.819151	P;P	0.47350	0.807;0.894	B;B	0.43950	0.294;0.437	T	0.20571	-1.0271	10	0.41790	T	0.15	.	13.6724	0.62434	0.0767:0.0:0.9233:0.0	.	619;594	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	619;594;619	ENSP00000376910:E619K	ENSP00000256007:E619K	E	+	1	0	LRRIQ1	83974557	1.000000	0.71417	0.163000	0.22734	0.028000	0.11728	3.334000	0.52097	2.640000	0.89533	0.591000	0.81541	GAA	G|0.992;A|0.008	0.008	strong		0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		A	85450426	G	A	85450426	3	1	23	1	0	0	0	0	1	0	0	0	9029	943	33	2	1881	2	LRRIQ1	12	85450426	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	172865	85450426	48401469	3111	19567										
MGAT4C	25834	hgsc.bcm.edu	37	chr12	86373221	86373221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attctcctagtcttaagtaaGtagaacattgtctcctttgt	6	8	3	1	rs17855890	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:86373221G>C	ENST00000604798.1	-	8	2487	c.1283C>G	c.(1282-1284)aCt>aGt	p.T428S	MGAT4C_ENST00000549405.2_Missense_Mutation_p.T428S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T457S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T428S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T428S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T428S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	428			T -> S (in dbSNP:rs17855890). {ECO:0000269|PubMed:10570912, ECO:0000269|PubMed:15489334}.		cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCTTAAGTAAGTAGAACATTG	0.348													G|||	206	0.0411342	0.0061	0.0793	5008	,	,		17729	0.0		0.1143	False		,,,				2504	0.0286				p.T428S		Atlas-SNP	.											.	MGAT4C	110	.	0			c.C1283G						PASS	.	G	SER/THR	84,4322	73.1+/-111.1	2,80,2121	82	81	82		1283	4.8	0.2	12	dbSNP_123	82	910,7688	204.5+/-247.2	48,814,3437	yes	missense	MGAT4C	NM_013244.3	58	50,894,5558	CC,CG,GG		10.5839,1.9065,7.6438	benign	428/479	86373221	994,12010	2203	4299	6502	SO:0001583	missense	25834	exon7			AAGTAAGTAGAAC		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1283C>G	12.37:g.86373221G>C	ENSP00000474896:p.Thr428Ser	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	112	54	0.482143	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	107	0.04899267399267399	5	0.01016260162601626	22	0.06077348066298342	0	0.0	80	0.10554089709762533	G	2.671	-0.277587	0.05679	0.019065	0.105839	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.28895	1.6;1.59;1.6;1.6;1.6	5.76	4.85	0.62838	.	0.180320	0.48767	N	0.000168	T	0.00328	0.0010	N	0.16130	0.375	0.31148	N	0.705815	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.004	T	0.04870	-1.0921	10	0.06494	T	0.89	-19.8644	15.9183	0.79539	0.0:0.0:0.8637:0.1363	rs17855890	457;428	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	428;457;428;428;428;428	ENSP00000331664:T428S;ENSP00000376900:T457S;ENSP00000449022:T428S;ENSP00000446647:T428S;ENSP00000447253:T428S	ENSP00000331664:T428S	T	-	2	0	MGAT4C	84897352	1.000000	0.71417	0.163000	0.22734	0.837000	0.47467	4.624000	0.61254	1.366000	0.46076	0.585000	0.79938	ACT	G|0.927;C|0.073	0.073	strong		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		C	86373221	G	C	86373221	3	2	23	1	0	0	0	0	1	0	0	0	9547	1029	36	4	157	4	MGAT4C	12	86373221	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	922795	86373221	47478674	3112	19568										
C12orf29	91298	hgsc.bcm.edu	37	chr12	88440676	88440676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattgaagcacaatgatctcGtgtcctggtttgaagattgc	10	8	1	4	rs9262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:88440676G>C	ENST00000356891.3	+	6	915	c.712G>C	c.(712-714)Gtg>Ctg	p.V238L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	238			V -> L (in dbSNP:rs9262). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						CAATGATCTCGTGTCCTGGTT	0.393													G|||	2557	0.510583	0.1528	0.562	5008	,	,		19449	0.7361		0.6083	False		,,,				2504	0.6247				p.V238L		Atlas-SNP	.											.	C12orf29	18	.	0			c.G712C						PASS	.	G	LEU/VAL	1038,3368	382.1+/-324.3	140,758,1305	195	181	186		712	-4.2	0.5	12	dbSNP_52	186	5064,3536	630.8+/-398.4	1472,2120,708	yes	missense	C12orf29	NM_001009894.2	32	1612,2878,2013	CC,CG,GG		41.1163,23.5588,46.9168	benign	238/326	88440676	6102,6904	2203	4300	6503	SO:0001583	missense	91298	exon6			GATCTCGTGTCCT	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.712G>C	12.37:g.88440676G>C	ENSP00000349358:p.Val238Leu	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	194	94	0.484536	NM_001009894	Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	37	CCDS31866.1	1113	0.5096153846153846	60	0.12195121951219512	199	0.5497237569060773	408	0.7132867132867133	446	0.5883905013192612	G	8.664	0.901337	0.17760	0.235588	0.588837	ENSG00000133641	ENST00000356891	T	0.27890	1.64	5.53	-4.2	0.03823	.	0.572548	0.18487	N	0.139750	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	9	0.15499	T	0.54	-21.6581	9.2016	0.37263	0.0:0.4575:0.2107:0.3319	rs9262;rs1127464;rs3183491;rs17334013;rs17846127;rs17859132;rs52814303;rs9262	238	Q8N999	CL029_HUMAN	L	238	ENSP00000349358:V238L	ENSP00000349358:V238L	V	+	1	0	C12orf29	86964807	0.000000	0.05858	0.503000	0.27626	0.990000	0.78478	-1.166000	0.03129	-0.739000	0.04809	-0.346000	0.07831	GTG	G|0.510;C|0.490	0.490	strong		0.393	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		C	88440676	G	C	88440676	3	2	23	1	0	0	0	0	1	0	0	0	1680	1145	40	4	734	4	C12orf29	12	88440676	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2067455	88440676	45411219	3113	19569										
KERA	11081	hgsc.bcm.edu	37	chr12	91449984	91449984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatcatgtacttcatagacCtgcctcacacttctagacca	5	13	4	2	rs12320366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:91449984C>T	ENST00000266719.3	-	2	322	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	25					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CTTCATAGACCTGCCTCACAC	0.423													C|||	1130	0.225639	0.5847	0.1412	5008	,	,		17998	0.0804		0.1183	False		,,,				2504	0.0603				p.Q25Q		Atlas-SNP	.											.	KERA	62	.	0			c.G75A						PASS	.	C		2163,2241	576.7+/-384.3	537,1089,576	95	75	82		75	5.1	1	12	dbSNP_120	82	1121,7479	230.7+/-264.9	72,977,3251	no	coding-synonymous	KERA	NM_007035.3		609,2066,3827	TT,TC,CC		13.0349,49.1144,25.2538		25/353	91449984	3284,9720	2202	4300	6502	SO:0001819	synonymous_variant	11081	exon2			ATAGACCTGCCTC	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.75G>A	12.37:g.91449984C>T		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	80	66	0.825	NM_007035		Silent	SNP	ENST00000266719.3	37	CCDS9037.1																																																																																			C|0.758;T|0.242	0.242	strong		0.423	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		T	91449984	C	T	91449984	2	4	23	1	0	0	0	0	0	0	0	1	8143	680	24	2		2	KERA	12	91449984	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3009308	91449984	42401911	3114	19570										
PLEKHG7	440107	hgsc.bcm.edu	37	chr12	93147901	93147901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacaatgcagacggctccaCgtgccagagctgctagtggc	13	12	0	2	rs74784157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:93147901C>T	ENST00000344636.3	+	6	535	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	117	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GACGGCTCCACGTGCCAGAGC	0.512													C|||	274	0.0547125	0.0787	0.0836	5008	,	,		20165	0.0139		0.0586	False		,,,				2504	0.0399				p.H117H		Atlas-SNP	.											.	PLEKHG7	38	.	0			c.C351T						PASS	.	C		275,4131	155.5+/-188.7	11,253,1939	104	93	96		351	3.2	1	12	dbSNP_131	96	475,8125	140.0+/-196.6	9,457,3834	no	coding-synonymous	PLEKHG7	NM_001004330.2		20,710,5773	TT,TC,CC		5.5233,6.2415,5.7666		117/380	93147901	750,12256	2203	4300	6503	SO:0001819	synonymous_variant	440107	exon6			GCTCCACGTGCCA	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.351C>T	12.37:g.93147901C>T		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	127	30	0.23622	NM_001004330	B2RNR7	Silent	SNP	ENST00000344636.3	37	CCDS31873.1																																																																																			C|0.947;T|0.053	0.053	strong		0.512	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		T	93147901	C	T	93147901	2	4	23	1	0	0	0	0	0	0	0	1	12075	535	19	1		1	PLEKHG7	12	93147901	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1697917	93147901	40703994	3115	19571										
EEA1	8411	hgsc.bcm.edu	37	chr12	93202801	93202801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtttagcttacatttccttCtccatttcaagttgtttact	5	9	2	0	rs7970286	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:93202801C>T	ENST00000322349.8	-	18	2595	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	777					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACATTTCCTTCTCCATTTCAA	0.358													C|||	2346	0.46845	0.1679	0.5245	5008	,	,		13451	0.8681		0.3569	False		,,,				2504	0.5378				p.E777E		Atlas-SNP	.											.	EEA1	104	.	0			c.G2331A						PASS	.	C		921,3485	349.3+/-310.3	112,697,1394	125	110	115		2331	2.9	1	12	dbSNP_116	115	2984,5616	463.0+/-365.8	512,1960,1828	no	coding-synonymous	EEA1	NM_003566.3		624,2657,3222	TT,TC,CC		34.6977,20.9033,30.0246		777/1412	93202801	3905,9101	2203	4300	6503	SO:0001819	synonymous_variant	8411	exon18			TTCCTTCTCCATT	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2331G>A	12.37:g.93202801C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	65	10	0.153846	NM_003566	Q14221	Silent	SNP	ENST00000322349.8	37	CCDS31874.1																																																																																			C|0.618;T|0.382	0.382	strong		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		T	93202801	C	T	93202801	2	4	23	1	0	0	0	0	0	0	0	1	4921	912	32	2		2	EEA1	12	93202801	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	54900	93202801	40649094	3116	19572										
PLXNC1	10154	hgsc.bcm.edu	37	chr12	94631496	94631496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgacattagggaaaagcaaCgtgatagtaacgggagcaaa	12	6	0	1	rs2230755	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:94631496C>T	ENST00000258526.4	+	10	2286	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	679					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						GGAAAAGCAACGTGATAGTAA	0.398													C|||	306	0.0611022	0.1566	0.0591	5008	,	,		21079	0.0119		0.0298	False		,,,				2504	0.0164				p.N679N		Atlas-SNP	.											.	PLXNC1	135	.	0			c.C2037T						PASS	.	C		589,3817	259.5+/-263.1	47,495,1661	94	80	85		2037	-3.6	0.9	12	dbSNP_98	85	296,8304	108.8+/-169.4	5,286,4009	no	coding-synonymous	PLXNC1	NM_005761.2		52,781,5670	TT,TC,CC		3.4419,13.3681,6.8046		679/1569	94631496	885,12121	2203	4300	6503	SO:0001819	synonymous_variant	10154	exon10			AAGCAACGTGATA	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.2037C>T	12.37:g.94631496C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	54	12	0.222222	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																			C|0.929;T|0.071	0.071	strong		0.398	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94631496	C	T	94631496	2	4	23	1	0	0	0	0	0	0	0	1	12126	535	19	1		1	PLXNC1	12	94631496	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1428695	94631496	39220399	3117	19573										
TMCC3	57458	hgsc.bcm.edu	37	chr12	94972290	94972290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaggtcatgcagctggtcCtccagtcgctcataccttta	9	13	3	0	rs2270893	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:94972290C>T	ENST00000261226.4	-	3	1142	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	TMCC3_ENST00000551457.1_Silent_p.E306E	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	337						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCAGCTGGTCCTCCAGTCGCT	0.542													C|||	2604	0.519968	0.5234	0.5634	5008	,	,		16768	0.4653		0.5378	False		,,,				2504	0.5225				p.E337E		Atlas-SNP	.											TMCC3,NS,carcinoma,0,1	TMCC3	63	1	0			c.G1011A						scavenged	.	C		2276,2130	598.6+/-389.1	590,1096,517	71	57	62		1011	-1.1	1	12	dbSNP_100	62	4626,3974	600.1+/-394.2	1263,2100,937	no	coding-synonymous	TMCC3	NM_020698.2		1853,3196,1454	TT,TC,CC		46.2093,48.3432,46.9322		337/478	94972290	6902,6104	2203	4300	6503	SO:0001819	synonymous_variant	57458	exon3			CTGGTCCTCCAGT	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1011G>A	12.37:g.94972290C>T		Somatic	99	1	0.010101		WXS	Illumina HiSeq	Phase_I	67	21	0.313433	NM_020698	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																			C|0.474;T|0.526	0.526	strong		0.542	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		T	94972290	C	T	94972290	2	4	23	1	0	0	0	0	0	0	0	1	15991	680	24	2		2	TMCC3	12	94972290	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	340794	94972290	38879605	3118	19574										
FGD6	55785	hgsc.bcm.edu	37	chr12	95604290	95604290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttttttcactgtcatccTggcaagtttcaaaatgttca	6	9	4	0	rs10507047	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:95604290T>C	ENST00000343958.4	-	2	993	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.Q257R|FGD6_ENST00000546711.1_Missense_Mutation_p.Q257R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	257			Q -> R (in dbSNP:rs10507047).		actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)	p.Q257R(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACTGTCATCCTGGCAAGTTTC	0.393													T|||	644	0.128594	0.0983	0.1571	5008	,	,		20012	0.2331		0.0775	False		,,,				2504	0.0941				p.Q257R		Atlas-SNP	.											FGD6,NS,carcinoma,0,2	FGD6	127	2	1	Substitution - Missense(1)	prostate(1)	c.A770G						PASS	.	T	ARG/GLN	422,3984	204.8+/-226.9	19,384,1800	73	73	73		770	4.8	0.2	12	dbSNP_119	73	836,7764	190.4+/-236.9	45,746,3509	yes	missense	FGD6	NM_018351.3	43	64,1130,5309	CC,CT,TT		9.7209,9.5778,9.6725	possibly-damaging	257/1431	95604290	1258,11748	2203	4300	6503	SO:0001583	missense	55785	exon2			TCATCCTGGCAAG	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.770A>G	12.37:g.95604290T>C	ENSP00000344446:p.Gln257Arg	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	56	13	0.232143	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	307	0.14056776556776557	51	0.10365853658536585	58	0.16022099447513813	139	0.243006993006993	59	0.07783641160949868	T	5.000	0.185724	0.09495	0.095778	0.097209	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.71222	-0.45;-0.55;-0.5	5.99	4.85	0.62838	.	0.000000	0.46442	D	0.000293	T	0.00039	0.0001	M	0.62723	1.935	0.80722	P	0.0	P	0.35077	0.483	B	0.27887	0.084	T	0.07888	-1.0749	9	0.49607	T	0.09	-6.0663	7.7203	0.28729	0.0:0.0732:0.1495:0.7773	rs10507047;rs52818706;rs61586134;rs10507047	257	Q6ZV73	FGD6_HUMAN	R	257	ENSP00000344446:Q257R;ENSP00000450342:Q257R;ENSP00000449005:Q257R	ENSP00000344446:Q257R	Q	-	2	0	FGD6	94128421	0.311000	0.24536	0.174000	0.22961	0.090000	0.18270	1.955000	0.40372	1.093000	0.41377	0.533000	0.62120	CAG	T|0.842;C|0.158	0.158	strong		0.393	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		C	95604290	T	C	95604290	3	2	23	1	0	0	0	0	1	0	0	0	5837	1580	55	3	3602	3	FGD6	12	95604290	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	632000	95604290	38247605	3119	19575										
VEZT	55591	hgsc.bcm.edu	37	chr12	95660182	95660182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttgctcgttatgcttcccActtggtggattgtgtcttcc	10	11	1	0	rs17855933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:95660182A>G	ENST00000436874.1	+	5	589	c.484A>G	c.(484-486)Act>Gct	p.T162A	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T114A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	162			T -> A (in dbSNP:rs17855933).		chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TATGCTTCCCACTTGGTGGAT	0.418													A|||	362	0.0722843	0.084	0.0893	5008	,	,		16651	0.001		0.1074	False		,,,				2504	0.0818				p.T162A		Atlas-SNP	.											.	VEZT	106	.	0			c.A484G						PASS	.	A	ALA/THR	283,3519		10,263,1628	295	282	286		484	2.9	1	12	dbSNP_123	286	860,7408		46,768,3320	yes	missense	VEZT	NM_017599.3	58	56,1031,4948	GG,GA,AA		10.4015,7.4435,9.4698	possibly-damaging	162/780	95660182	1143,10927	1901	4134	6035	SO:0001583	missense	55591	exon5			CTTCCCACTTGGT	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.484A>G	12.37:g.95660182A>G	ENSP00000410083:p.Thr162Ala	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	195	139	0.712821	NM_017599	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	153	0.07005494505494506	34	0.06910569105691057	35	0.09668508287292818	1	0.0017482517482517483	83	0.10949868073878628	A	3.498	-0.102452	0.06967	0.074435	0.104015	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.45668	0.99;0.94;0.99;0.89;0.94;0.99	5.39	2.88	0.33553	.	0.295485	0.37012	N	0.002285	T	0.00356	0.0011	N	0.12182	0.205	0.35718	P	0.18310700000000002	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.09377	0.003;0.004;0.003;0.003	T	0.05209	-1.0899	9	0.23891	T	0.37	-14.0809	4.0882	0.09957	0.497:0.0:0.1039:0.3991	rs17855933;rs17855933	162;162;114;114	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	A	162;132;114;181;84;114;162	ENSP00000410083:T162A;ENSP00000449591:T132A;ENSP00000261219:T114A;ENSP00000449701:T181A;ENSP00000447151:T84A;ENSP00000380894:T114A	ENSP00000261219:T114A	T	+	1	0	VEZT	94184313	0.747000	0.28283	0.991000	0.47740	0.024000	0.10985	1.007000	0.29860	2.023000	0.59567	0.528000	0.53228	ACT	A|0.925;G|0.075	0.075	strong		0.418	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95660182	A	G	95660182	3	3	23	1	0	0	0	0	1	0	0	0	17153	159	6	2	502	2	VEZT	12	95660182	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	55892	95660182	38191713	3120	19576										
VEZT	55591	hgsc.bcm.edu	37	chr12	95694111	95694111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgagtatttatgtgaaaacTctctagaaggtaaaaataaa	7	4	1	3	rs17855934	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:95694111T>G	ENST00000436874.1	+	12	2107	c.2002T>G	c.(2002-2004)Tct>Gct	p.S668A	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.S620A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	668			S -> A (in dbSNP:rs17855934).		chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGTGAAAACTCTCTAGAAGG	0.348													T|||	368	0.0734824	0.0885	0.0908	5008	,	,		18124	0.001		0.1074	False		,,,				2504	0.0808				p.S668A		Atlas-SNP	.											.	VEZT	106	.	0			c.T2002G						PASS	.	T	ALA/SER	285,3407		13,259,1574	41	38	39		2002	4.2	0.2	12	dbSNP_123	39	859,7325		47,765,3280	yes	missense	VEZT	NM_017599.3	99	60,1024,4854	GG,GT,TT		10.4961,7.7194,9.6329	benign	668/780	95694111	1144,10732	1846	4092	5938	SO:0001583	missense	55591	exon12			GAAAACTCTCTAG	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2002T>G	12.37:g.95694111T>G	ENSP00000410083:p.Ser668Ala	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	150	69	0.46	NM_017599	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	155	0.07097069597069597	35	0.07113821138211382	36	0.09944751381215469	1	0.0017482517482517483	83	0.10949868073878628	T	2.500	-0.315303	0.05422	0.077194	0.104961	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14022	2.54;2.54;2.54	6.02	4.15	0.48705	.	0.352986	0.34777	N	0.003681	T	0.00144	0.0004	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.01281	0.0	T	0.28490	-1.0042	9	0.29301	T	0.29	-41.0968	6.6237	0.22818	0.0:0.664:0.129:0.207	rs17855934;rs17855934	668	Q9HBM0	VEZA_HUMAN	A	668;620;624;668	ENSP00000410083:S668A;ENSP00000261219:S620A;ENSP00000380894:S624A	ENSP00000261219:S620A	S	+	1	0	VEZT	94218242	0.014000	0.17966	0.215000	0.23724	0.380000	0.30137	0.984000	0.29565	0.872000	0.35775	-0.182000	0.12963	TCT	T|0.924;G|0.076	0.076	strong		0.348	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95694111	T	G	95694111	3	3	23	1	0	0	0	0	1	0	0	0	17153	1551	54	5	2048	5	VEZT	12	95694111	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	33929	95694111	38157784	3121	19577										
LTA4H	4048	hgsc.bcm.edu	37	chr12	96408716	96408716	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaataagctacatcagggTctatatctgtcagatcaacc	7	9	5	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:96408716T>C	ENST00000228740.2	-	12	1262	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.D350G|LTA4H_ENST00000413268.2_Missense_Mutation_p.D350G	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	374					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TACATCAGGGTCTATATCTGT	0.393																																					p.D374G		Atlas-SNP	.											.	LTA4H	38	.	0			c.A1121G						PASS	.						172	157	162					12																	96408716		2203	4300	6503	SO:0001583	missense	4048	exon12			TCAGGGTCTATAT	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1121A>G	12.37:g.96408716T>C	ENSP00000228740:p.Asp374Gly	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	185	8	0.0432432	NM_000895	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.461791	0.63513	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.02944	4.1;4.1;4.1	6.07	6.07	0.98685	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	M	0.88512	2.96	0.80722	D	1	P;P;D	0.53312	0.502;0.698;0.959	P;P;P	0.57846	0.499;0.736;0.828	T	0.00350	-1.1797	10	0.52906	T	0.07	-23.543	16.6277	0.84984	0.0:0.0:0.0:1.0	.	350;350;374	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	G	374;350;350	ENSP00000228740:D374G;ENSP00000449958:D350G;ENSP00000395051:D350G	ENSP00000228740:D374G	D	-	2	0	LTA4H	94932847	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	5.728000	0.68531	2.330000	0.79161	0.528000	0.53228	GAC	.	.	none		0.393	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		C	96408716	T	C	96408716	3	2	23	1	0	0	0	0	1	0	0	0	9069	1667	58	2	746	2	LTA4H	12	96408716	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	714605	96408716	37443179	3122	19578										
ELK3	2004	hgsc.bcm.edu	37	chr12	96641452	96641452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaccgacatcggctccatCgccctcaacagcccagccct	8	20	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:96641452C>T	ENST00000228741.3	+	3	1268	c.942C>T	c.(940-942)atC>atT	p.I314I	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	314					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TCGGCTCCATCGCCCTCAACA	0.592																																					p.I314I		Atlas-SNP	.											.	ELK3	36	.	0			c.C942T						PASS	.						37	35	36					12																	96641452		2203	4299	6502	SO:0001819	synonymous_variant	2004	exon3			CTCCATCGCCCTC	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.942C>T	12.37:g.96641452C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	19	9	0.473684	NM_005230	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	CCDS9060.1																																																																																			.	.	none		0.592	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		T	96641452	C	T	96641452	2	4	23	1	0	0	0	0	0	0	0	1	5060	874	31	1		1	ELK3	12	96641452	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	232736	96641452	37210443	3123	19579										
TMPO	7112	hgsc.bcm.edu	37	chr12	98927830	98927830	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctatgcaggcagacattagtCaagctgcacagattcttagc	9	10	2	2	rs17459334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:98927830C>G	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.Q599E|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACATTAGTCAAGCTGCACA	0.468													C|||	295	0.0589058	0.003	0.0403	5008	,	,		22302	0.001		0.1093	False		,,,				2504	0.1554				p.Q599E		Atlas-SNP	.											TMPO_ENST00000266732,rectum,carcinoma,0,1	TMPO	111	1	0			c.C1795G						PASS	.	C	,,GLU/GLN	95,4311	77.3+/-115.6	2,91,2110	99	79	86		,,1795	6	1	12	dbSNP_123	86	830,7770	192.0+/-238.1	32,766,3502	yes	intron,intron,missense	TMPO	NM_001032283.2,NM_001032284.2,NM_003276.2	,,29	34,857,5612	GG,GC,CC		9.6512,2.1562,7.1121	,,possibly-damaging	,,599/695	98927830	925,12081	2203	4300	6503	SO:0001627	intron_variant	7112	exon4			ATTAGTCAAGCTG		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2214C>G	12.37:g.98927830C>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	76	35	0.460526	NM_003276	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	101	0.04624542124542125	1	0.0020325203252032522	19	0.052486187845303865	0	0.0	81	0.10686015831134564	C	14.20	2.463925	0.43736	0.021562	0.096512	ENSG00000120802	ENST00000266732	T	0.59772	0.24	5.96	5.96	0.96718	.	0.461649	0.22945	N	0.053734	T	0.01254	0.0041	N	0.24115	0.695	0.09310	P	1.0	P	0.49090	0.919	P	0.44447	0.45	T	0.10428	-1.0630	9	0.42905	T	0.14	.	15.9221	0.79583	0.0:1.0:0.0:0.0	rs17459334;rs52831524;rs17459334	599	P42166	LAP2A_HUMAN	E	599	ENSP00000266732:Q599E	ENSP00000266732:Q599E	Q	+	1	0	TMPO	97451961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.147000	0.42226	2.832000	0.97577	0.655000	0.94253	CAA	C|0.934;G|0.066	0.066	strong		0.468	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		G	98927830	C	G	98927830	1	3	23	0	1	0	0	0	0	0	0	0	16234	827	29	4		4	TMPO	12	98927830	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2286378	98927830	34924065	3124	19580										
UHRF1BP1L	23074	hgsc.bcm.edu	37	chr12	100482866	100482866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggcagatgcgactactGtagagctctaaaaagattcg	12	8	1	3	rs17851246	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:100482866G>A	ENST00000279907.7	-	8	1060	c.848C>T	c.(847-849)aCa>aTa	p.T283I	UHRF1BP1L_ENST00000545232.2_5'UTR|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.T283I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	283				T -> I (in Ref. 1; AAH14891). {ECO:0000305}.						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						TGCGACTACTGTAGAGCTCTA	0.348													G|||	170	0.0339457	0.0015	0.0504	5008	,	,		13331	0.004		0.0686	False		,,,				2504	0.0613				p.T283I		Atlas-SNP	.											.	UHRF1BP1L	144	.	0			c.C848T						PASS	.	G	ILE/THR,ILE/THR	48,4358	49.6+/-84.7	2,44,2157	83	81	81		848,848	4.1	0.9	12	dbSNP_123	81	568,8032	154.2+/-208.4	23,522,3755	yes	missense,missense	UHRF1BP1L	NM_001006947.1,NM_015054.1	89,89	25,566,5912	AA,AG,GG		6.6047,1.0894,4.7363	benign,benign	283/523,283/1465	100482866	616,12390	2203	4300	6503	SO:0001583	missense	23074	exon8			ACTACTGTAGAGC		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.848C>T	12.37:g.100482866G>A	ENSP00000279907:p.Thr283Ile	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	123	55	0.447154	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	66	0.03021978021978022	1	0.0020325203252032522	13	0.03591160220994475	3	0.005244755244755245	49	0.06464379947229551	G	12.07	1.828787	0.32329	0.010894	0.066047	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.30981	2.9;1.51	5.02	4.12	0.48240	.	0.392722	0.29280	N	0.012609	T	0.01695	0.0054	N	0.22421	0.69	0.33622	D	0.604904	B;B	0.30973	0.302;0.136	B;B	0.32465	0.146;0.09	T	0.12682	-1.0538	10	0.66056	D	0.02	-0.9194	13.2532	0.60064	0.0773:0.0:0.9227:0.0	rs17851246	283;283	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	I	283	ENSP00000279907:T283I;ENSP00000349285:T283I	ENSP00000279907:T283I	T	-	2	0	UHRF1BP1L	99006997	0.990000	0.36364	0.902000	0.35471	0.186000	0.23388	3.614000	0.54160	1.114000	0.41781	0.460000	0.39030	ACA	G|0.954;A|0.046	0.046	strong		0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		A	100482866	G	A	100482866	3	1	23	1	0	0	0	0	1	0	0	0	16966	1377	48	2	3626	2	UHRF1BP1L	12	100482866	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1555036	100482866	33369029	3125	19581										
GOLGA2B	55592	hgsc.bcm.edu	37	chr12	100550838	100550839	+	RNA	INS	-	-	GGAG													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctccagcagcttcacctINSggagggaggggtgctcagct					rs150871002|rs375559149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:100550838_100550839insGGAG	ENST00000397112.4	-	0	1985				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGCTTCACCTGGAGGGAGGGG	0.624														170	0.0339457	0.0015	0.0504	5008	,	,		11181	0.004		0.0686	False		,,,				2504	0.0613				.		Pindel,Atlas-Indel	.											.	.	.	.	0			c.1670-2->CTCC						PASS	.			42,4222		2,38,2092						1.7	0		dbSNP_134	50	526,7728		21,484,3622	no	intergenic				23,522,5714	A1A1,A1R,RR		6.3727,0.985,4.5375				568,11950						55592	exon11			.																													12.37:g.100550843_100550846dupGGAG		Somatic	84	.	.		WXS	Illumina HiSeq	Phase_I	71	16	0.225	NR_036632	Q9NSV2	RNA	INS	ENST00000397112.4	37																																																																																				-|0.969;GGAG|0.031	0.031	strong		0.624	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			GGAG	100550839	-	GGAG	100550838	6	5	23	0	1	1	1	0	0	0	0	0	6553	1594	55	0		0	GOLGA2B	12	100550838	RNA	INS	-	TCGA-GR-7353-01A-11D-2210-10	67972	100550838	33301057	3126	19582										
SCYL2	55681	hgsc.bcm.edu	37	chr12	100709420	100709420	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttgttttgcccaatgttCtacttattgctgaggaatgc	8	8	1	1	rs10860577	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:100709420C>T	ENST00000360820.2	+	9	1617	c.1180C>T	c.(1180-1182)Cta>Tta	p.L394L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	394					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCCCAATGTTCTACTTATTGC	0.398													C|||	553	0.110423	0.1263	0.1239	5008	,	,		15891	0.003		0.1998	False		,,,				2504	0.0982				p.L394L		Atlas-SNP	.											SCYL2,colon,carcinoma,-1,1	SCYL2	99	1	0			c.C1180T						PASS	.	C		536,3870	242.1+/-252.3	39,458,1706	110	102	105		1180	2.4	1	12	dbSNP_120	105	1541,7059	289.8+/-299.5	135,1271,2894	no	coding-synonymous	SCYL2	NM_017988.4		174,1729,4600	TT,TC,CC		17.9186,12.1652,15.9696		394/930	100709420	2077,10929	2203	4300	6503	SO:0001819	synonymous_variant	55681	exon9			AATGTTCTACTTA	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1180C>T	12.37:g.100709420C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	156	75	0.480769	NM_017988	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	CCDS9076.1																																																																																			C|0.853;T|0.147	0.147	strong		0.398	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		T	100709420	C	T	100709420	2	4	23	1	0	0	0	0	0	0	0	1	13948	912	32	2		2	SCYL2	12	100709420	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	158582	100709420	33142475	3127	19583										
SLC5A8	160728	hgsc.bcm.edu	37	chr12	101560328	101560328	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggcatttctgtggttgtCatcaaatttgtctcattgta	8	6	4	0	rs164365	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:101560328C>A	ENST00000536262.2	-	12	2028	c.1470G>T	c.(1468-1470)atG>atT	p.M490I		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTGGTTGTCATCAAATTTG	0.328													C|||	1304	0.260383	0.149	0.1268	5008	,	,		18912	0.5437		0.2485	False		,,,				2504	0.226				p.M490I	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.G1470T						PASS	.	C	ILE/MET	597,3809	262.8+/-265.1	40,517,1646	122	112	115		1470	3	0.8	12	dbSNP_79	115	1932,6668	340.0+/-323.4	207,1518,2575	yes	missense	SLC5A8	NM_145913.3	10	247,2035,4221	AA,AC,CC		22.4651,13.5497,19.4449	benign	490/611	101560328	2529,10477	2203	4300	6503	SO:0001583	missense	160728	exon12			GGTTGTCATCAAA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1470G>T	12.37:g.101560328C>A	ENSP00000445340:p.Met490Ile	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	117	51	0.435897	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	600	0.27472527472527475	66	0.13414634146341464	55	0.15193370165745856	301	0.5262237762237763	178	0.23482849604221637	C	0.514	-0.865250	0.02590	0.135497	0.224651	ENSG00000256870	ENST00000536262	T	0.62498	0.02	4.86	2.95	0.34219	.	0.878925	0.10389	N	0.680659	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.49133	-0.8971	9	0.17832	T	0.49	.	3.7188	0.08448	0.3282:0.4963:0.0:0.1755	rs164365;rs1681107;rs2128633;rs52791556;rs59386786;rs164365	490	Q8N695	SC5A8_HUMAN	I	490	ENSP00000445340:M490I	ENSP00000445340:M490I	M	-	3	0	SLC5A8	100084459	0.003000	0.15002	0.751000	0.31187	0.092000	0.18411	0.204000	0.17335	2.530000	0.85305	0.655000	0.94253	ATG	C|0.767;A|0.233	0.233	strong		0.328	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		A	101560328	C	A	101560328	3	1	23	1	0	0	0	0	1	0	0	0	14671	826	29	4	378	4	SLC5A8	12	101560328	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	850908	101560328	32291567	3128	19584										
SLC5A8	160728	hgsc.bcm.edu	37	chr12	101587518	101587518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagccaccatgatcccaaCttgaaaaacatctgtccaga	5	14	1	3	rs1709189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:101587518C>T	ENST00000536262.2	-	5	1135	c.577G>A	c.(577-579)Gtt>Att	p.V193I		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGATCCCAACTTGAAAAACA	0.398													C|||	1399	0.279353	0.2224	0.1268	5008	,	,		20280	0.5437		0.2475	False		,,,				2504	0.2249				p.V193I	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.G577A						PASS	.	C	ILE/VAL	819,3587	325.9+/-299.3	76,667,1460	178	164	168		577	3.6	1	12	dbSNP_89	168	1930,6670	340.5+/-323.6	205,1520,2575	yes	missense	SLC5A8	NM_145913.3	29	281,2187,4035	TT,TC,CC		22.4419,18.5883,21.1364	benign	193/611	101587518	2749,10257	2203	4300	6503	SO:0001583	missense	160728	exon5			TCCCAACTTGAAA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.577G>A	12.37:g.101587518C>T	ENSP00000445340:p.Val193Ile	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	165	73	0.442424	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	640	0.29304029304029305	108	0.21951219512195122	54	0.14917127071823205	300	0.5244755244755245	178	0.23482849604221637	C	14.47	2.544870	0.45280	0.185883	0.224419	ENSG00000256870	ENST00000536262	D	0.87809	-2.3	5.44	3.6	0.41247	.	0.121777	0.56097	D	0.000039	T	0.00012	0.0000	N	0.17800	0.525	0.26000	P	0.9821381	B	0.02656	0.0	B	0.12837	0.008	T	0.40459	-0.9562	9	0.42905	T	0.14	.	12.0769	0.53649	0.0:0.858:0.0:0.142	rs1709189;rs52793799;rs60134232;rs1709189	193	Q8N695	SC5A8_HUMAN	I	193	ENSP00000445340:V193I	ENSP00000445340:V193I	V	-	1	0	SLC5A8	100111649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.947000	0.40293	1.291000	0.44653	0.655000	0.94253	GTT	C|0.745;T|0.255	0.255	strong		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		T	101587518	C	T	101587518	3	4	23	1	0	0	0	0	1	0	0	0	14671	565	20	2	1299	2	SLC5A8	12	101587518	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27190	101587518	32264377	3129	19585										
UTP20	27340	hgsc.bcm.edu	37	chr12	101732655	101732655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaattcttcagtatctcagCaaaaccacaataagcgcaga	6	11	3	1	rs56265469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:101732655C>T	ENST00000261637.4	+	31	4107	c.3933C>T	c.(3931-3933)agC>agT	p.S1311S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1311					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGTATCTCAGCAAAACCACAA	0.328													C|||	1285	0.256589	0.1536	0.317	5008	,	,		17124	0.375		0.2376	False		,,,				2504	0.2505				p.S1311S		Atlas-SNP	.											.	UTP20	222	.	0			c.C3933T						PASS	.	C		768,3638	310.2+/-291.5	64,640,1499	95	94	95		3933	4.4	1	12	dbSNP_129	95	2074,6522	356.5+/-330.3	268,1538,2492	no	coding-synonymous	UTP20	NM_014503.2		332,2178,3991	TT,TC,CC		24.1275,17.4308,21.8582		1311/2786	101732655	2842,10160	2203	4298	6501	SO:0001819	synonymous_variant	27340	exon31			TCTCAGCAAAACC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3933C>T	12.37:g.101732655C>T		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	223	108	0.484305	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																			C|0.766;T|0.234	0.234	strong		0.328	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		T	101732655	C	T	101732655	2	4	23	1	0	0	0	0	0	0	0	1	17096	709	25	2		2	UTP20	12	101732655	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	145137	101732655	32119240	3130	19586										
UTP20	27340	hgsc.bcm.edu	37	chr12	101776996	101776996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaggaagaggtgaaggaaGagctcggcaggccggccacg	18	8	0	4	rs1061436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:101776996G>C	ENST00000261637.4	+	59	8008	c.7834G>C	c.(7834-7836)Gag>Cag	p.E2612Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2612			E -> Q (in dbSNP:rs1061436).		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGAAGGAAGAGCTCGGCAG	0.532													G|||	435	0.086861	0.0182	0.1153	5008	,	,		14588	0.0278		0.165	False		,,,				2504	0.1401				p.E2612Q		Atlas-SNP	.											.	UTP20	222	.	0			c.G7834C						PASS	.	G	GLN/GLU	169,4237	111.2+/-149.4	4,161,2038	62	70	67		7834	2.4	0	12	dbSNP_86	67	1432,7168	275.4+/-291.8	119,1194,2987	yes	missense	UTP20	NM_014503.2	29	123,1355,5025	CC,CG,GG		16.6512,3.8357,12.3097	benign	2612/2786	101776996	1601,11405	2203	4300	6503	SO:0001583	missense	27340	exon59			AAGGAAGAGCTCG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7834G>C	12.37:g.101776996G>C	ENSP00000261637:p.Glu2612Gln	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	94	42	0.446809	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	203	0.09294871794871795	11	0.022357723577235773	46	0.1270718232044199	16	0.027972027972027972	130	0.17150395778364116	G	12.10	1.836371	0.32421	0.038357	0.166512	ENSG00000120800	ENST00000261637	T	0.04970	3.52	5.46	2.43	0.29744	.	0.501020	0.18522	N	0.138727	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	P	0.35656	0.514	B	0.25291	0.059	T	0.43734	-0.9373	9	0.15499	T	0.54	-4.2624	10.1662	0.42882	0.0699:0.2572:0.6729:0.0	rs1061436;rs3202548;rs3816569;rs17415284;rs1061436	2612	O75691	UTP20_HUMAN	Q	2612	ENSP00000261637:E2612Q	ENSP00000261637:E2612Q	E	+	1	0	UTP20	100301127	0.416000	0.25424	0.002000	0.10522	0.001000	0.01503	2.618000	0.46393	0.657000	0.30906	0.643000	0.83706	GAG	G|0.878;C|0.122	0.122	strong		0.532	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		C	101776996	G	C	101776996	3	2	23	1	0	0	0	0	1	0	0	0	17096	943	33	4	8068	4	UTP20	12	101776996	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	44341	101776996	32074899	3131	19587										
MYBPC1	4604	hgsc.bcm.edu	37	chr12	102069077	102069077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcatcctgtagaccgtccAggtccaccccaaattgtgaa	7	13	1	2	rs764291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:102069077A>G	ENST00000550270.1	+	25	2796	c.2796A>G	c.(2794-2796)ccA>ccG	p.P932P	MYBPC1_ENST00000392934.3_Silent_p.P901P|MYBPC1_ENST00000549145.1_Silent_p.P945P|MYBPC1_ENST00000541119.1_Silent_p.P902P|MYBPC1_ENST00000452455.2_Silent_p.P932P|MYBPC1_ENST00000547509.1_Silent_p.P900P|MYBPC1_ENST00000545503.2_Silent_p.P914P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.P939P|MYBPC1_ENST00000551300.1_Silent_p.P815P|MYBPC1_ENST00000441232.1_Silent_p.P932P|MYBPC1_ENST00000361466.2_Silent_p.P939P|MYBPC1_ENST00000553190.1_Silent_p.P914P|MYBPC1_ENST00000547405.1_Silent_p.P888P|MYBPC1_ENST00000536007.1_Silent_p.P895P|MYBPC1_ENST00000360610.2_Silent_p.P932P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	932					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAGACCGTCCAGGTCCACCCC	0.448													A|||	719	0.14357	0.0416	0.1297	5008	,	,		23895	0.1091		0.2525	False		,,,				2504	0.2147				p.P939P		Atlas-SNP	.											.	MYBPC1	235	.	0			c.A2817G						PASS	.	A	,,,	363,4043	185.3+/-212.5	15,333,1855	95	79	84		2817,2817,2796,2742	-11.5	0.9	12	dbSNP_86	84	2428,6172	401.6+/-347.2	330,1768,2202	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	,,,	345,2101,4057	GG,GA,AA		28.2326,8.2388,21.4593	,,,	939/1172,939/1149,932/1142,914/1124	102069077	2791,10215	2203	4300	6503	SO:0001819	synonymous_variant	4604	exon26			CCGTCCAGGTCCA		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2796A>G	12.37:g.102069077A>G		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	197	89	0.451777	NM_206819	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																			A|0.807;G|0.193	0.193	strong		0.448	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			G	102069077	A	G	102069077	2	3	23	1	0	0	0	0	0	0	0	1	10011	175	7	3		3	MYBPC1	12	102069077	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	292081	102069077	31782818	3132	19588										
STAB2	55576	hgsc.bcm.edu	37	chr12	104086631	104086631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccattgtcgatggggacaaCgcagccacaaatggagtgat	12	9	0	1	rs703651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:104086631C>T	ENST00000388887.2	+	31	3543	c.3339C>T	c.(3337-3339)aaC>aaT	p.N1113N		NM_017564.9	NP_060034.9			stabilin 2									p.N1113N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGGGGACAACGCAGCCACAA	0.448													C|||	2343	0.467851	0.4463	0.4092	5008	,	,		18770	0.5585		0.4632	False		,,,				2504	0.4499				p.N1113N		Atlas-SNP	.											STAB2,rectum,carcinoma,0,2	STAB2	370	2	1	Substitution - coding silent(1)	stomach(1)	c.C3339T						PASS	.	C		1941,2465	550.9+/-378.2	420,1101,682	164	139	147		3339	-9.7	0	12	dbSNP_86	147	3825,4775	536.4+/-383.0	839,2147,1314	no	coding-synonymous	STAB2	NM_017564.9		1259,3248,1996	TT,TC,CC		44.4767,44.0536,44.3334		1113/2552	104086631	5766,7240	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon31			GGACAACGCAGCC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3339C>T	12.37:g.104086631C>T		Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	205	110	0.536585	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			C|0.546;T|0.453	0.453	strong		0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104086631	C	T	104086631	2	4	23	1	0	0	0	0	0	0	0	1	15237	535	19	1		1	STAB2	12	104086631	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2017554	104086631	29765264	3133	19589										
STAB2	55576	hgsc.bcm.edu	37	chr12	104123911	104123911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagcacggtgtatataaaCaataaggctaagatcatatc	8	7	1	2	rs10778281	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:104123911C>T	ENST00000388887.2	+	49	5304	c.5100C>T	c.(5098-5100)aaC>aaT	p.N1700N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTATATAAACAATAAGGCTA	0.338													T|||	1424	0.284345	0.6702	0.2522	5008	,	,		17391	0.0367		0.1511	False		,,,				2504	0.1779				p.N1700N		Atlas-SNP	.											.	STAB2	370	.	0			c.C5100T						PASS	.	T		2627,1779	525.4+/-371.6	785,1057,361	120	140	134		5100	3.4	1	12	dbSNP_120	134	1197,7403	763.6+/-407.6	76,1045,3179	no	coding-synonymous	STAB2	NM_017564.9		861,2102,3540	TT,TC,CC		13.9186,40.3768,29.4018		1700/2552	104123911	3824,9182	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon49			TATAAACAATAAG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5100C>T	12.37:g.104123911C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	49	22	0.44898	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			C|0.717;T|0.283	0.283	strong		0.338	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104123911	C	T	104123911	2	4	23	1	0	0	0	0	0	0	0	1	15237	477	17	2		2	STAB2	12	104123911	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37280	104123911	29727984	3134	19590										
HSP90B1	7184	hgsc.bcm.edu	37	chr12	104332202	104332204	+	In_Frame_Del	DEL	GAA	GAA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgatgaagctgcagtagagGaagaagaagaagaaaagaaa					rs546630977		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:104332202_104332204delGAA	ENST00000299767.5	+	7	1122_1124	c.940_942delGAA	c.(940-942)gaadel	p.E318del		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	318					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	tgcagtagaggaagaagaagaag	0.379																																					p.313_314del		Pindel	.											.	HSP90B1	72	.	0			c.939_941del						PASS	.			45,4219		0,45,2087						-0.2	1			44	116,8138		0,116,4011	no	coding	HSP90B1	NM_003299.1		0,161,6098	A1A1,A1R,RR		1.4054,1.0553,1.2861				161,12357				SO:0001651	inframe_deletion	7184	exon7			.	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.940_942delGAA	12.37:g.104332211_104332213delGAA	ENSP00000299767:p.Glu318del	Somatic	185	.	.		WXS	Illumina HiSeq	Phase_I	153	41	0.268	NM_003299	Q96A97	In_Frame_Del	DEL	ENST00000299767.5	37	CCDS9094.1																																																																																			.	.	none		0.379	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		-	104332204	GAA	-	104332202	7	5	23	1	0	1	0	1	0	0	0	0	7403	1175	41	0	966	0	HSP90B1	12	104332202	In_Frame_Del	DEL	GAA	TCGA-GR-7353-01A-11D-2210-10	208291	104332202	29519693	3135	19591										
SLC41A2	84102	hgsc.bcm.edu	37	chr12	105199038	105199038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgctgttaggtaggggatGgagaaactatccgggtcctt	14	6	0	1	rs11112201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:105199038G>A	ENST00000258538.3	-	10	1741	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	538					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.S455S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GGTAGGGGATGGAGAAACTAT	0.453													G|||	418	0.0834665	0.0658	0.072	5008	,	,		18623	0.0883		0.0845	False		,,,				2504	0.1094				p.S538S	Esophageal Squamous(195;176 2919 4272 35572)	Atlas-SNP	.											SLC41A2,NS,carcinoma,0,1	SLC41A2	66	1	1	Substitution - coding silent(1)	stomach(1)	c.C1614T						PASS	.	G		378,4028	191.6+/-217.2	18,342,1843	196	200	199		1614	1.9	1	12	dbSNP_120	199	776,7824	184.5+/-232.4	38,700,3562	no	coding-synonymous	SLC41A2	NM_032148.3		56,1042,5405	AA,AG,GG		9.0233,8.5792,8.8728		538/574	105199038	1154,11852	2203	4300	6503	SO:0001819	synonymous_variant	84102	exon10			GGGGATGGAGAAA	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1614C>T	12.37:g.105199038G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_032148	Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	CCDS9100.2																																																																																			G|0.919;A|0.081	0.081	strong		0.453	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		A	105199038	G	A	105199038	2	1	23	1	0	0	0	0	0	0	0	1	14630	1335	47	2		2	SLC41A2	12	105199038	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	866836	105199038	28652857	3136	19592										
APPL2	55198	hgsc.bcm.edu	37	chr12	105600935	105600935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtactgaagggaggagagGtgctgcttccgccgggccgc	17	10	0	2	rs2293643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:105600935G>A	ENST00000258530.3	-	8	750	c.525C>T	c.(523-525)caC>caT	p.H175H	APPL2_ENST00000539978.2_Silent_p.H132H|APPL2_ENST00000551662.1_Silent_p.H181H|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGGAGGAGAGGTGCTGCTTCC	0.532													G|||	919	0.183506	0.0787	0.2421	5008	,	,		19223	0.2599		0.1879	False		,,,				2504	0.2004				p.H181H		Atlas-SNP	.											.	APPL2	69	.	0			c.C543T						PASS	.	G		383,4023	192.6+/-218.0	19,345,1839	89	80	83		525	3	1	12	dbSNP_100	83	1701,6899	312.7+/-311.0	167,1367,2766	no	coding-synonymous	APPL2	NM_018171.3		186,1712,4605	AA,AG,GG		19.7791,8.6927,16.0234		175/665	105600935	2084,10922	2203	4300	6503	SO:0001819	synonymous_variant	55198	exon8			GGAGAGGTGCTGC	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.525C>T	12.37:g.105600935G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	83	42	0.506024	NM_001251904	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	37	CCDS9101.1																																																																																			G|0.836;A|0.164	0.164	strong		0.532	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		A	105600935	G	A	105600935	2	1	23	1	0	0	0	0	0	0	0	1	818	1252	44	2		2	APPL2	12	105600935	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	401897	105600935	28250960	3137	19593										
CKAP4	10970	hgsc.bcm.edu	37	chr12	106633569	106633569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccgtgagggcctgcagggCgagccgctccgtgtcggccg	17	15	0	1	rs3088113	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:106633569C>T	ENST00000378026.4	-	2	1178	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	348			A -> T (in dbSNP:rs3088113).			cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GCCTGCAGGGCGAGCCGCTCC	0.637													C|||	1098	0.219249	0.0673	0.1513	5008	,	,		15611	0.5466		0.1372	False		,,,				2504	0.2198				p.A348T		Atlas-SNP	.											CKAP4,NS,carcinoma,+1,1	CKAP4	49	1	0			c.G1042A						PASS	.						23	25	24					12																	106633569		2203	4300	6503	SO:0001583	missense	10970	exon2			GCAGGGCGAGCCG	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1042G>A	12.37:g.106633569C>T	ENSP00000367265:p.Ala348Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	61	37	0.606557	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	511	0.23397435897435898	33	0.06707317073170732	53	0.1464088397790055	319	0.5576923076923077	106	0.13984168865435356	C	3.634	-0.074948	0.07184	.	.	ENSG00000136026	ENST00000378026	T	0.41758	0.99	5.82	4.79	0.61399	.	0.409690	0.28583	N	0.014839	T	0.00012	0.0000	N	0.11818	0.18	0.80722	P	0.0	B	0.15473	0.013	B	0.12156	0.007	T	0.46871	-0.9160	9	0.11182	T	0.66	-23.6109	2.5991	0.04862	0.3354:0.168:0.0:0.4965	rs3088113	348	Q07065	CKAP4_HUMAN	T	348	ENSP00000367265:A348T	ENSP00000367265:A348T	A	-	1	0	CKAP4	105157699	0.958000	0.32768	0.539000	0.28077	0.994000	0.84299	1.568000	0.36418	1.248000	0.43934	0.563000	0.77884	GCC	T|0.218;G|0.001;C|0.780	0.218	strong		0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			T	106633569	C	T	106633569	3	4	23	1	0	0	0	0	1	0	0	0	3444	768	27	1	770	1	CKAP4	12	106633569	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1032634	106633569	27218326	3138	19594										
POLR3B	55703	hgsc.bcm.edu	37	chr12	106838340	106838340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtcaccgagaaacacttaTcagtgtgccatggggaaaca	10	10	2	1	rs10861607	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:106838340T>C	ENST00000228347.4	+	19	2277	c.2055T>C	c.(2053-2055)taT>taC	p.Y685Y	POLR3B_ENST00000539066.1_Silent_p.Y627Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	685					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GAAACACTTATCAGTGTGCCA	0.438													T|||	1592	0.317891	0.0144	0.3631	5008	,	,		18053	0.6984		0.2694	False		,,,				2504	0.3538				p.Y685Y		Atlas-SNP	.											POLR3B,caecum,carcinoma,0,1	POLR3B	123	1	0			c.T2055C						PASS	.	T	,	263,4143	149.2+/-183.4	6,251,1946	139	110	119		1881,2055	-5	0.4	12	dbSNP_120	119	2221,6379	378.1+/-338.8	287,1647,2366	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	293,1898,4312	CC,CT,TT		25.8256,5.9691,19.0989	,	627/1076,685/1134	106838340	2484,10522	2203	4300	6503	SO:0001819	synonymous_variant	55703	exon19			CACTTATCAGTGT	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2055T>C	12.37:g.106838340T>C		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	118	118	1	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1																																																																																			T|0.752;C|0.248	0.248	strong		0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		C	106838340	T	C	106838340	2	2	23	1	0	0	0	0	0	0	0	1	12229	1442	50	2		2	POLR3B	12	106838340	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	204771	106838340	27013555	3139	19595										
RFX4	5992	hgsc.bcm.edu	37	chr12	107113769	107113769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaccatctcttggaggaGcagtctcccatcgagtccta	9	12	2	1	rs17038732	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:107113769G>A	ENST00000392842.1	+	12	1584	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RFX4_ENST00000357881.4_Silent_p.E399E|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.E296E|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	390	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCTTGGAGGAGCAGTCTCCCA	0.502													G|||	353	0.0704872	0.1944	0.0519	5008	,	,		17906	0.0099		0.0199	False		,,,				2504	0.0307				p.E399E		Atlas-SNP	.											.	RFX4	218	.	0			c.G1197A						PASS	.	G	,,	706,3700	294.4+/-283.1	60,586,1557	210	187	195		1197,888,1170	-0.2	1	12	dbSNP_123	195	158,8442	75.1+/-137.7	0,158,4142	no	coding-synonymous,coding-synonymous,coding-synonymous	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	,,	60,744,5699	AA,AG,GG		1.8372,16.0236,6.6431	,,	399/745,296/642,390/736	107113769	864,12142	2203	4300	6503	SO:0001819	synonymous_variant	5992	exon12			GGAGGAGCAGTCT	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1170G>A	12.37:g.107113769G>A		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	202	102	0.504951	NM_001206691	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																			G|0.928;A|0.072	0.072	strong		0.502	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		A	107113769	G	A	107113769	2	1	23	1	0	0	0	0	0	0	0	1	13265	962	34	2		2	RFX4	12	107113769	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	275429	107113769	26738126	3140	19596										
RFX4	5992	hgsc.bcm.edu	37	chr12	107141265	107141265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catacacagtgacgacggctGctgggtccccagctgagaac	12	13	0	2	rs61743416	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:107141265G>A	ENST00000392842.1	+	16	2098	c.1684G>A	c.(1684-1686)Gct>Act	p.A562T	RFX4_ENST00000357881.4_Missense_Mutation_p.A571T|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.A468T	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	562					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GACGACGGCTGCTGGGTCCCC	0.498													G|||	54	0.0107827	0.0023	0.0202	5008	,	,		19904	0.0099		0.0109	False		,,,				2504	0.0164				p.A571T		Atlas-SNP	.											.	RFX4	218	.	0			c.G1711A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	22,4384	29.9+/-59.1	0,22,2181	104	94	97		1711,1402,1684	5.4	1	12	dbSNP_129	97	101,8499	55.2+/-116.2	0,101,4199	yes	missense,missense,missense	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	58,58,58	0,123,6380	AA,AG,GG		1.1744,0.4993,0.9457	benign,benign,benign	571/745,468/642,562/736	107141265	123,12883	2203	4300	6503	SO:0001583	missense	5992	exon16			ACGGCTGCTGGGT	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1684G>A	12.37:g.107141265G>A	ENSP00000376585:p.Ala562Thr	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	124	64	0.516129	NM_001206691	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	24	0.01098901098901099	2	0.0040650406504065045	10	0.027624309392265192	2	0.0034965034965034965	10	0.013192612137203167	G	20.7	4.034562	0.75617	0.004993	0.011744	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.64618	-0.1;-0.11;0.89	5.45	5.45	0.79879	.	0.101606	0.64402	D	0.000002	T	0.26557	0.0649	N	0.14661	0.345	0.58432	D	0.999996	P;P;P	0.41313	0.634;0.745;0.487	B;B;B	0.40444	0.298;0.329;0.124	T	0.45789	-0.9237	10	0.45353	T	0.12	-13.2519	19.3053	0.94158	0.0:0.0:1.0:0.0	rs61743416	468;571;562	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	T	562;571;468	ENSP00000376585:A562T;ENSP00000350552:A571T;ENSP00000229387:A468T	ENSP00000229387:A468T	A	+	1	0	RFX4	105665395	1.000000	0.71417	0.952000	0.39060	0.981000	0.71138	9.098000	0.94202	2.562000	0.86427	0.655000	0.94253	GCT	G|0.990;A|0.010	0.010	strong		0.498	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		A	107141265	G	A	107141265	3	1	23	1	0	0	0	0	1	0	0	0	13265	1319	46	2	1951	2	RFX4	12	107141265	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27496	107141265	26710630	3141	19597										
BTBD11	121551	hgsc.bcm.edu	37	chr12	107712880	107712880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgggagctgctggccgcctCtagctgactccatgcacagc	13	15	1	1	rs10082935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:107712880C>T	ENST00000280758.5	+	1	691	c.163C>T	c.(163-165)Cta>Tta	p.L55L	BTBD11_ENST00000490090.2_Silent_p.L55L|BTBD11_ENST00000420571.2_Silent_p.L55L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	55						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGGCCGCCTCTAGCTGACTC	0.647													C|||	493	0.0984425	0.0484	0.1758	5008	,	,		12283	0.0		0.1799	False		,,,				2504	0.1288				p.L55L		Atlas-SNP	.											.	BTBD11	122	.	0			c.C163T						PASS	.	C		316,4090		9,298,1896	29	30	30		163	4	1	12	dbSNP_119	30	1585,7009		143,1299,2855	no	coding-synonymous	BTBD11	NM_001018072.1		152,1597,4751	TT,TC,CC		18.4431,7.172,14.6231		55/1105	107712880	1901,11099	2203	4297	6500	SO:0001819	synonymous_variant	121551	exon1			CCGCCTCTAGCTG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.163C>T	12.37:g.107712880C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	62	39	0.629032	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																			C|0.868;T|0.132	0.132	strong		0.647	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	107712880	C	T	107712880	2	4	23	1	0	0	0	0	0	0	0	1	1539	912	32	2		2	BTBD11	12	107712880	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	571615	107712880	26139015	3142	19598										
BTBD11	121551	hgsc.bcm.edu	37	chr12	108011971	108011971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctcgcccagccagagaaGgagaagagtgatatcctgtc	12	11	0	4	rs56296886	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:108011971G>A	ENST00000280758.5	+	10	2796	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	BTBD11_ENST00000357167.4_Silent_p.K293K|BTBD11_ENST00000490090.2_Silent_p.K756K|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	756						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCCAGAGAAGGAGAAGAGTG	0.597													G|||	9	0.00179712	0.0015	0.0043	5008	,	,		20060	0.0		0.003	False		,,,				2504	0.001				p.K756K		Atlas-SNP	.											.	BTBD11	122	.	0			c.G2268A						PASS	.	G	,	6,4400	11.4+/-27.6	0,6,2197	62	65	64		879,2268	4.7	1	12	dbSNP_129	64	70,8530	41.7+/-99.0	0,70,4230	no	coding-synonymous,coding-synonymous	BTBD11	NM_001017523.1,NM_001018072.1	,	0,76,6427	AA,AG,GG		0.814,0.1362,0.5843	,	293/642,756/1105	108011971	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	121551	exon10			AGAGAAGGAGAAG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2268G>A	12.37:g.108011971G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	64	28	0.4375	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																			G|0.996;A|0.004	0.004	strong		0.597	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	108011971	G	A	108011971	2	1	23	1	0	0	0	0	0	0	0	1	1539	991	35	2		2	BTBD11	12	108011971	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	299091	108011971	25839924	3143	19599										
PRDM4	11108	hgsc.bcm.edu	37	chr12	108140191	108140191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggataggcgcggtcacaCagagtacaccctgtagatgg	15	9	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:108140191C>T	ENST00000228437.5	-	6	1596	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	379					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CGCGGTCACACAGAGTACACC	0.458																																					p.L379L		Atlas-SNP	.											PRDM4,bladder,carcinoma,-1,1	PRDM4	64	1	0			c.G1137A						PASS	.						86	83	84					12																	108140191		2203	4300	6503	SO:0001819	synonymous_variant	11108	exon6			GTCACACAGAGTA	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1137G>A	12.37:g.108140191C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	109	46	0.422018	NM_012406	Q9UFA6	Silent	SNP	ENST00000228437.5	37	CCDS9115.1																																																																																			.	.	none		0.458	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		T	108140191	C	T	108140191	2	4	23	1	0	0	0	0	0	0	0	1	12459	465	17	2		2	PRDM4	12	108140191	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	128220	108140191	25711704	3144	19600										
TMEM119	338773	hgsc.bcm.edu	37	chr12	108985945	108985945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgatgggccccccagggttAtgggctggggccccatcgat	16	12	0	1	rs7975237	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:108985945A>G	ENST00000392806.3	-	2	383	c.215T>C	c.(214-216)aTa>aCa	p.I72T		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	72			I -> T (in dbSNP:rs7975237). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:16303743}.		osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCCCAGGGTTATGGGCTGGGG	0.692													G|||	3283	0.655551	0.7542	0.4539	5008	,	,		14227	0.8532		0.4433	False		,,,				2504	0.68				p.I72T		Atlas-SNP	.											.	TMEM119	31	.	0			c.T215C						PASS	.	G	THR/ILE	3179,1227	419.8+/-338.8	1157,865,181	43	49	47		215	4.6	0.8	12	dbSNP_116	47	3865,4735	606.3+/-395.1	856,2153,1291	yes	missense	TMEM119	NM_181724.2	89	2013,3018,1472	GG,GA,AA		44.9419,27.8484,45.8404	benign	72/284	108985945	7044,5962	2203	4300	6503	SO:0001583	missense	338773	exon2			AGGGTTATGGGCT	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.215T>C	12.37:g.108985945A>G	ENSP00000376553:p.Ile72Thr	Somatic	260	1	0.00384615		WXS	Illumina HiSeq	Phase_I	210	106	0.504762	NM_181724	Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	CCDS9119.1	1326	0.6071428571428571	339	0.6890243902439024	174	0.48066298342541436	484	0.8461538461538461	329	0.4340369393139842	G	0.061	-1.223836	0.01530	0.721516	0.449419	ENSG00000183160	ENST00000392806;ENST00000433191;ENST00000549031	T;T	0.39406	1.1;1.08	4.59	4.59	0.56863	.	0.064020	0.64402	N	0.000009	T	0.00012	0.0000	N	0.00104	-2.125	0.49915	P	1.6499999999997073E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39375	-0.9617	9	0.02654	T	1	-2.8635	10.6585	0.45688	0.09:0.0:0.91:0.0	rs7975237;rs7975237	72	Q4V9L6	TM119_HUMAN	T	72;6;72	ENSP00000376553:I72T;ENSP00000448583:I72T	ENSP00000376553:I72T	I	-	2	0	TMEM119	107510074	0.997000	0.39634	0.758000	0.31321	0.008000	0.06430	1.977000	0.40589	1.089000	0.41292	-0.511000	0.04467	ATA	A|0.417;G|0.583	0.583	strong		0.692	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		G	108985945	A	G	108985945	3	3	23	1	0	0	0	0	1	0	0	0	16029	449	16	2	640	2	TMEM119	12	108985945	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	845754	108985945	24865950	3145	19601										
SSH1	54434	hgsc.bcm.edu	37	chr12	109198832	109198832	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagggccatgcctcttacGagataaagatgatcgaagat	11	9	1	4	rs140151008	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:109198832G>A	ENST00000326495.5	-	10	1047	c.954C>T	c.(952-954)ctC>ctT	p.L318L	SSH1_ENST00000360239.3_Splice_Site_p.S22L|SSH1_ENST00000326470.5_Splice_Site_p.L329L|SSH1_ENST00000551165.1_Splice_Site_p.L318L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	318	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTTACGAGATAAAGAT	0.433													G|||	17	0.00339457	0.0	0.0	5008	,	,		19464	0.0		0.004	False		,,,				2504	0.0133				p.L329L		Atlas-SNP	.											.	SSH1	144	.	0			c.C987T						PASS	.	G	,,	6,4400	12.9+/-30.5	0,6,2197	125	118	120		954,987,954	-1.8	1	12	dbSNP_134	120	63,8537	38.8+/-94.9	0,63,4237	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SSH1	NM_001161330.1,NM_001161331.1,NM_018984.3	,,	0,69,6434	AA,AG,GG		0.7326,0.1362,0.5305	,,	318/693,329/704,318/1050	109198832	69,12937	2203	4300	6503	SO:0001630	splice_region_variant	54434	exon9			TCTTACGAGATAA	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.954+1C>T	12.37:g.109198832G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	132	63	0.477273	NM_001161331	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	CCDS9121.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.44	3.625527	0.66901	0.001362	0.007326	ENSG00000084112	ENST00000360239	D	0.86164	-2.08	5.13	-1.82	0.07857	.	.	.	.	.	T	0.67268	0.2875	.	.	.	0.27735	N	0.944678	B	0.19935	0.04	B	0.06405	0.002	T	0.55798	-0.8084	7	.	.	.	-29.1082	7.2487	0.26138	0.3231:0.4661:0.2108:0.0	.	22	Q8WYL5-4	.	L	22	ENSP00000353374:S22L	.	S	-	2	0	SSH1	107722961	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.002000	0.29796	-0.089000	0.12484	0.655000	0.94253	TCG	G|0.996;A|0.004	0.004	strong		0.433	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	Silent	A	109198832	G	A	109198832	5	1	23	1	0	0	0	0	0	0	1	0	15183	1072	37	1	2405	1	SSH1	12	109198832	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	212887	109198832	24653063	3146	19602										
MYO1H	283446	hgsc.bcm.edu	37	chr12	109848567	109848567	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacataaaggaatcatatcTattctggtgagaaaaatgaa	8	4	3	3	rs7315991	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:109848567T>C	ENST00000431443.2	+	12	1386	c.1386T>C	c.(1384-1386)tcT>tcC	p.S462S	MYO1H_ENST00000310903.5_Silent_p.S452S	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	462	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GAATCATATCTATTCTGGTGA	0.378													C|||	2732	0.545527	0.7458	0.5922	5008	,	,		17613	0.4544		0.4722	False		,,,				2504	0.411				p.S452S		Atlas-SNP	.											MYO1H,NS,carcinoma,+1,1	MYO1H	98	1	0			c.T1356C						PASS	.	C		2559,1105		892,775,165	77	69	72		1356	2.9	1	12	dbSNP_116	72	3943,4229		951,2041,1094	no	coding-synonymous	MYO1H	NM_001101421.3		1843,2816,1259	CC,CT,TT		48.2501,30.1583,45.0659		452/1023	109848567	6502,5334	1832	4086	5918	SO:0001819	synonymous_variant	283446	exon12			CATATCTATTCTG		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1386T>C	12.37:g.109848567T>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	55	25	0.454545	NM_001101421	F5H3C6	Silent	SNP	ENST00000431443.2	37																																																																																				T|0.459;C|0.541	0.541	strong		0.378	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		C	109848567	T	C	109848567	2	2	23	1	0	0	0	0	0	0	0	1	10075	1509	53	3		3	MYO1H	12	109848567	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	649735	109848567	24003328	3147	19603										
MYO1H	283446	hgsc.bcm.edu	37	chr12	109883374	109883374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatagttttcgacactggacTggaagaacaagtctataaaa	8	6	1	1	rs3825393	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:109883374T>C	ENST00000431443.2	+	30	3032	c.3032T>C	c.(3031-3033)cTg>cCg	p.L1011P	MYO1H_ENST00000310903.5_Missense_Mutation_p.L1001P|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	1011	Myosin tail. {ECO:0000255}.		L -> P (in dbSNP:rs3825393).			myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GACACTGGACTGGAAGAACAA	0.353													C|||	3529	0.704673	0.9803	0.5591	5008	,	,		19581	0.4821		0.6491	False		,,,				2504	0.7219				p.L1001P		Atlas-SNP	.											.	MYO1H	98	.	0			c.T3002C						PASS	.	C	PRO/LEU	3399,295		1562,275,10	109	104	106		3002	2.8	0.5	12	dbSNP_107	106	5268,2914		1690,1888,513	yes	missense	MYO1H	NM_001101421.3	98	3252,2163,523	CC,CT,TT		35.6148,7.9859,27.0209	benign	1001/1023	109883374	8667,3209	1847	4091	5938	SO:0001583	missense	283446	exon30			CTGGACTGGAAGA		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.3032T>C	12.37:g.109883374T>C	ENSP00000444076:p.Leu1011Pro	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	40	40	1	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		1454	0.6657509157509157	475	0.9654471544715447	209	0.5773480662983426	274	0.479020979020979	496	0.6543535620052771	C	10.73	1.432156	0.25813	0.920141	0.643852	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.34472	1.36;1.36	5.97	2.79	0.32731	Myosin tail 2 (1);	.	.	.	.	T	0.00012	0.0000	N	0.00210	-1.845	0.45342	P	0.0016659999999999453	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32929	-0.9888	8	0.02654	T	1	.	8.4305	0.32755	0.2336:0.6344:0.0:0.132	rs3825393;rs59454453;rs3825393	1011;1001	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	P	1001;1011;192	ENSP00000439182:L1001P;ENSP00000444076:L1011P	ENSP00000439182:L1001P	L	+	2	0	MYO1H	108367757	0.001000	0.12720	0.491000	0.27477	0.450000	0.32258	0.012000	0.13287	0.402000	0.25451	-0.128000	0.14901	CTG	T|0.322;C|0.678	0.678	strong		0.353	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		C	109883374	T	C	109883374	3	2	23	1	0	0	0	0	1	0	0	0	10075	1580	55	3	3120	3	MYO1H	12	109883374	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	34807	109883374	23968521	3148	19604										
MMAB	326625	hgsc.bcm.edu	37	chr12	109994870	109994870	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggccgatgggtcatttttcAtgtatattttctcttgattc	8	8	3	1	rs9593	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:109994870A>T	ENST00000545712.2	-	9	1109	c.716T>A	c.(715-717)aTg>aAg	p.M239K	MMAB_ENST00000266839.5_Missense_Mutation_p.M148K|MMAB_ENST00000540016.1_Missense_Mutation_p.M187K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	239			M -> K (common polymorphism; dbSNP:rs9593). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCATTTTTCATGTATATTTT	0.512													T|||	2571	0.513379	0.7542	0.4914	5008	,	,		20645	0.3125		0.5447	False		,,,				2504	0.3783				p.M239K		Atlas-SNP	.											MMAB,rectum,carcinoma,+1,1	MMAB	16	1	0			c.T716A						PASS	.	T	LYS/MET	3176,1230	426.6+/-341.2	1136,904,163	124	109	114		716	1.4	1	12	dbSNP_52	114	4579,4021	556.3+/-386.8	1228,2123,949	yes	missense	MMAB	NM_052845.3	95	2364,3027,1112	TT,TA,AA		46.7558,27.9165,40.3737	benign	239/251	109994870	7755,5251	2203	4300	6503	SO:0001583	missense	326625	exon9			TTTTTCATGTATA	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.716T>A	12.37:g.109994870A>T	ENSP00000445920:p.Met239Lys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_052845	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	1122	0.5137362637362637	350	0.7113821138211383	184	0.5082872928176796	167	0.291958041958042	421	0.5554089709762533	T	0.014	-1.584380	0.00872	0.720835	0.532442	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.89343	-2.5;-2.31	5.43	1.38	0.22167	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);	0.390145	0.26616	N	0.023396	T	0.00012	0.0000	N	0.00029	-2.62	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.47018	-0.9149	9	0.02654	T	1	-9.3558	0.606	0.00753	0.2411:0.2393:0.1239:0.3958	rs9593;rs3168651;rs61082361;rs9593	239	Q96EY8	MMAB_HUMAN	K	239;148	ENSP00000445920:M239K;ENSP00000266839:M148K	ENSP00000266839:M148K	M	-	2	0	MMAB	108479253	0.931000	0.31567	0.989000	0.46669	0.229000	0.25112	-0.119000	0.10676	0.059000	0.16252	-0.364000	0.07487	ATG	A|0.431;T|0.569	0.569	strong		0.512	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	109994870	A	T	109994870	3	4	23	1	0	0	0	0	1	0	0	0	9640	217	8	5	40	5	MMAB	12	109994870	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	111496	109994870	23857025	3149	19605										
MMAB	326625	hgsc.bcm.edu	37	chr12	110011229	110011229	+	Silent	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcggcgccgaagcacccGcgcaggccaagacggctccc					rs10774774|rs36013132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110011229G>T	ENST00000545712.2	-	1	450	c.57C>A	c.(55-57)cgC>cgA	p.R19R	MVK_ENST00000541384.1_5'Flank|MVK_ENST00000539696.1_5'Flank|MVK_ENST00000539575.1_5'Flank|MMAB_ENST00000266839.5_5'UTR|MVK_ENST00000228510.3_5'Flank|MVK_ENST00000535044.1_3'UTR|MVK_ENST00000392727.3_5'Flank|MMAB_ENST00000540016.1_Silent_p.R19R	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	19			R -> H (in dbSNP:rs10774775).|R -> Q (in dbSNP:rs36013132). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAAGCACCCGCGCAGGCCAA	0.711													G|||	1427	0.284944	0.438	0.2939	5008	,	,		13025	0.1607		0.2853	False		,,,				2504	0.1994				p.R19R		Atlas-SNP	.											.	MMAB	16	.	0			c.C57A						PASS	.	G		1718,2668		356,1006,831	16	17	16		57	2	0.4	12	dbSNP_120	16	2294,6298		372,1550,2374	no	coding-synonymous	MMAB	NM_052845.3		728,2556,3205	TT,TG,GG		26.6993,39.1701,30.9139		19/251	110011229	4012,8966	2193	4296	6489	SO:0001819	synonymous_variant	326625	exon1			GCACCCGCGCAGG	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.57C>A	12.37:g.110011229G>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	54	32	0.592593	NM_052845	C5HU05|Q9BSH0	Silent	SNP	ENST00000545712.2	37	CCDS9131.1																																																																																			.	.	alt		0.711	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110011229	G	T	110011229	2	4	23	1	0	0	0	0	0	0	0	1	9640	1074	38	4		4	MMAB	12	110011229	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16359	110011229	23840666	3150	19606	399	2								
MMAB	326625	hgsc.bcm.edu	37	chr12	110011230	110011230	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcggcgccgaagcacccgCgcaggccaagacggctcccc					rs10774775|rs36013132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110011230C>T	ENST00000545712.2	-	1	449	c.56G>A	c.(55-57)cGc>cAc	p.R19H	MVK_ENST00000541384.1_5'Flank|MVK_ENST00000539696.1_5'Flank|MVK_ENST00000539575.1_5'Flank|MMAB_ENST00000266839.5_5'UTR|MVK_ENST00000228510.3_5'Flank|MVK_ENST00000535044.1_3'UTR|MVK_ENST00000392727.3_5'Flank|MMAB_ENST00000540016.1_Missense_Mutation_p.R19H	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	19			R -> H (in dbSNP:rs10774775).|R -> Q (in dbSNP:rs36013132). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCACCCGCGCAGGCCAAG	0.716													C|||	1427	0.284944	0.438	0.2939	5008	,	,		12948	0.1607		0.2853	False		,,,				2504	0.1994				p.R19H		Atlas-SNP	.											.	MMAB	16	.	0			c.G56A						PASS	.	C	HIS/ARG	1710,2678		354,1002,838	15	17	16		56	3.9	0.9	12	dbSNP_120	16	2293,6297		369,1555,2371	no	missense	MMAB	NM_052845.3	29	723,2557,3209	TT,TC,CC		26.6938,38.9699,30.8445	probably-damaging	19/251	110011230	4003,8975	2194	4295	6489	SO:0001583	missense	326625	exon1			CACCCGCGCAGGC	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.56G>A	12.37:g.110011230C>T	ENSP00000445920:p.Arg19His	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	53	32	0.603774	NM_052845	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	634	0.2902930402930403	223	0.4532520325203252	112	0.30939226519337015	83	0.1451048951048951	216	0.2849604221635884	C	13.88	2.368378	0.42003	0.389699	0.266938	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.83755	-1.76	4.79	3.89	0.44902	.	0.375104	0.24940	N	0.034391	T	0.00012	0.0000	L	0.29908	0.895	0.09310	P	0.999999808155	D	0.61080	0.989	P	0.47744	0.556	T	0.29458	-1.0011	8	.	.	.	-18.7787	11.184	0.48644	0.0:0.8144:0.1856:0.0	rs10774775	19	Q96EY8	MMAB_HUMAN	H	19	ENSP00000445920:R19H	.	R	-	2	0	MMAB	108495613	0.712000	0.27916	0.852000	0.33557	0.108000	0.19459	1.236000	0.32683	1.351000	0.45789	0.591000	0.81541	CGC	C|0.693;T|0.307	0.307	strong		0.716	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110011230	C	T	110011230	3	4	23	1	0	0	0	0	1	0	0	0	9640	768	27	1	732	1	MMAB	12	110011230	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	110011230	23840665	3151	19607	399	2								
TRPV4	59341	hgsc.bcm.edu	37	chr12	110252569	110252569	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctcagccacctccccgggCcccgcgcgggggccttcgct	13	20	1	0	rs56092423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110252569C>A	ENST00000418703.2	-	1	127	c.33G>T	c.(31-33)ggG>ggT	p.G11G	TRPV4_ENST00000536838.1_Silent_p.G11G|TRPV4_ENST00000346520.2_Silent_p.G11G|TRPV4_ENST00000541794.1_Silent_p.G11G|TRPV4_ENST00000544971.1_Silent_p.G11G|TRPV4_ENST00000392719.2_Silent_p.G11G|TRPV4_ENST00000261740.2_Silent_p.G11G|TRPV4_ENST00000536570.1_5'UTR|TRPV4_ENST00000537083.1_Silent_p.G11G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	11					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTccccgggccccgcgcggg	0.677													c|||	12	0.00239617	0.0008	0.0	5008	,	,		15170	0.0		0.0089	False		,,,				2504	0.002				p.G11G		Atlas-SNP	.											.	TRPV4	88	.	0			c.G33T						PASS	.	C	,,,,	9,4291		0,9,2141	8	8	8		33,33,33,33,33	-1.7	0.2	12	dbSNP_129	8	103,8301		0,103,4099	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,112,6240	AA,AC,CC		1.2256,0.2093,0.8816	,,,,	11/825,11/838,11/765,11/872,11/812	110252569	112,12592	2150	4202	6352	SO:0001819	synonymous_variant	59341	exon1			CCCGGGCCCCGCG	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.33G>T	12.37:g.110252569C>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	16	7	0.4375	NM_001177433	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																			C|0.996;A|0.004	0.004	strong		0.677	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110252569	C	A	110252569	2	1	23	1	0	0	0	0	0	0	0	1	16595	726	26	4		4	TRPV4	12	110252569	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	241339	110252569	23599326	3152	19608										
GIT2	9815	hgsc.bcm.edu	37	chr12	110383141	110383141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaagaggaggtcacaagtGcactcctcccgatctggaat	11	10	2	2	rs11068997	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110383141G>A	ENST00000355312.3	-	16	1654	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V	GIT2_ENST00000354574.4_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.A501V|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.A454V|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.A502V	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	552			A -> V (in dbSNP:rs11068997).		behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGTCACAAGTGCACTCCTCCC	0.493													G|||	325	0.0648962	0.0961	0.0274	5008	,	,		20549	0.119		0.0328	False		,,,				2504	0.0266				p.A552V		Atlas-SNP	.											.	GIT2	81	.	0			c.C1655T						PASS	.	G	,,,VAL/ALA,	427,3979	202.1+/-225.0	16,395,1792	62	58	59		,,,1655,	5.7	1	12	dbSNP_120	59	268,8332	100.3+/-161.8	5,258,4037	yes	intron,intron,intron,missense,intron	GIT2	NM_001135213.1,NM_001135214.1,NM_014776.3,NM_057169.3,NM_057170.3	,,,64,	21,653,5829	AA,AG,GG		3.1163,9.6913,5.3437	,,,benign,	,,,552/760,	110383141	695,12311	2203	4300	6503	SO:0001583	missense	9815	exon16			ACAAGTGCACTCC	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1655C>T	12.37:g.110383141G>A	ENSP00000347464:p.Ala552Val	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_057169	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	131	0.059981684981684984	47	0.09552845528455285	14	0.03867403314917127	43	0.07517482517482517	27	0.03562005277044855	G	15.86	2.959123	0.53400	0.096913	0.031163	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000338373;ENST00000551209	T;T;T;T	0.72725	-0.62;-0.65;-0.55;-0.68	5.69	5.69	0.88448	.	0.153604	0.56097	D	0.000022	T	0.04724	0.0128	L	0.51422	1.61	0.09310	P	1.0	P	0.45044	0.849	B	0.40165	0.321	T	0.38866	-0.9641	9	0.30854	T	0.27	.	18.8027	0.92025	0.0:0.0:1.0:0.0	rs11068997;rs52812275;rs11068997	552	Q14161	GIT2_HUMAN	V	552;502;454;501	ENSP00000347464:A552V;ENSP00000353312:A502V;ENSP00000340342:A454V;ENSP00000448832:A501V	ENSP00000340342:A454V	A	-	2	0	GIT2	108867524	1.000000	0.71417	0.997000	0.53966	0.611000	0.37282	7.568000	0.82369	2.683000	0.91414	0.563000	0.77884	GCA	G|0.941;A|0.059	0.059	strong		0.493	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		A	110383141	G	A	110383141	3	1	23	1	0	0	0	0	1	0	0	0	6397	1319	46	2	644	2	GIT2	12	110383141	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	130572	110383141	23468754	3153	19609										
GIT2	9815	hgsc.bcm.edu	37	chr12	110385079	110385079	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtgcgcggggaagggctgGagtctcatcctgctctcttc	14	12	2	0	rs2063388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110385079G>T	ENST00000355312.3	-	15	1622	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L	GIT2_ENST00000354574.4_Silent_p.L493L|GIT2_ENST00000343646.5_Silent_p.L461L|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Silent_p.L541L|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000551209.1_Silent_p.L490L|GIT2_ENST00000457474.2_Silent_p.L493L|GIT2_ENST00000338373.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Silent_p.L491L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	541					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGAAGGGCTGGAGTCTCATCC	0.577													G|||	422	0.0842652	0.1596	0.0389	5008	,	,		18604	0.119		0.0378	False		,,,				2504	0.0266				p.L541L		Atlas-SNP	.											.	GIT2	81	.	0			c.C1623A						PASS	.	G	,,,,	685,3721	286.9+/-279.0	46,593,1564	98	96	97		1479,1623,1473,1623,	-1	1	12	dbSNP_94	97	284,8316	105.2+/-166.2	6,272,4022	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GIT2	NM_001135213.1,NM_001135214.1,NM_014776.3,NM_057169.3,NM_057170.3	,,,,	52,865,5586	TT,TG,GG		3.3023,15.547,7.4504	,,,,	493/682,541/730,491/680,541/760,	110385079	969,12037	2203	4300	6503	SO:0001819	synonymous_variant	9815	exon15			GGGCTGGAGTCTC	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1623C>A	12.37:g.110385079G>T		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	225	125	0.555556	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	CCDS9138.1																																																																																			G|0.922;T|0.078	0.078	strong		0.577	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		T	110385079	G	T	110385079	2	4	23	1	0	0	0	0	0	0	0	1	6397	1161	41	4		4	GIT2	12	110385079	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1938	110385079	23466816	3154	19610										
ANKRD13A	88455	hgsc.bcm.edu	37	chr12	110474070	110474070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catttgtctttgccaggaacTttcaggaccagcttcgaatg	9	10	2	0	rs2287174	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110474070T>C	ENST00000261739.4	+	14	1680	c.1514T>C	c.(1513-1515)cTt>cCt	p.L505P	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	505			L -> P (in dbSNP:rs2287174).			endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAGGAACTTTCAGGACCA	0.453													T|||	415	0.0828674	0.1543	0.0389	5008	,	,		21033	0.119		0.0378	False		,,,				2504	0.0266				p.L505P		Atlas-SNP	.											.	ANKRD13A	39	.	0			c.T1514C						PASS	.	T	PRO/LEU	676,3730	284.3+/-277.5	45,586,1572	189	175	180		1514	3.2	0.9	12	dbSNP_100	180	285,8315	105.2+/-166.2	6,273,4021	yes	missense	ANKRD13A	NM_033121.1	98	51,859,5593	CC,CT,TT		3.314,15.3427,7.3889	benign	505/591	110474070	961,12045	2203	4300	6503	SO:0001583	missense	88455	exon14			AGGAACTTTCAGG	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1514T>C	12.37:g.110474070T>C	ENSP00000261739:p.Leu505Pro	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	215	120	0.55814	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	155	0.07097069597069597	65	0.13211382113821138	16	0.04419889502762431	43	0.07517482517482517	31	0.040897097625329816	T	10.08	1.251222	0.22880	0.153427	0.03314	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000553251;ENST00000549826;ENST00000551491	T	0.57752	0.38	5.65	3.2	0.36748	.	0.979102	0.08412	N	0.949650	T	0.00271	0.0008	L	0.49778	1.585	0.22918	N	0.998563	B;B;B	0.30281	0.105;0.275;0.229	B;B;B	0.23574	0.029;0.04;0.047	T	0.02070	-1.1219	10	0.33141	T	0.24	-0.6484	5.3529	0.16045	0.0:0.0902:0.179:0.7308	rs2287174;rs11541842;rs52792823;rs2287174	504;251;505	B4DYP5;E9PGV0;Q8IZ07	.;.;AN13A_HUMAN	P	251;505;143;143;32	ENSP00000261739:L505P	ENSP00000261738:L251P	L	+	2	0	ANKRD13A	108958453	0.306000	0.24490	0.879000	0.34478	0.454000	0.32378	0.874000	0.28065	2.149000	0.67028	0.529000	0.55759	CTT	T|0.923;C|0.077	0.077	strong		0.453	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		C	110474070	T	C	110474070	3	2	23	1	0	0	0	0	1	0	0	0	641	1609	56	3	1568	3	ANKRD13A	12	110474070	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	88991	110474070	23377825	3155	19611										
RAD9B	144715	hgsc.bcm.edu	37	chr12	110960196	110960196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaacacagaggaagtgccaGggtctctgtgtctcagaaag	13	9	2	2	rs34513555	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:110960196G>A	ENST00000409778.3	+	8	922	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	RAD9B_ENST00000409425.1_Missense_Mutation_p.G297R|RAD9B_ENST00000409246.1_Missense_Mutation_p.G297R|RAD9B_ENST00000392672.4_Missense_Mutation_p.G369R|RAD9B_ENST00000409300.1_Missense_Mutation_p.G369R			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	366					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GGAAGTGCCAGGGTCTCTGTG	0.468													G|||	385	0.076877	0.1513	0.0346	5008	,	,		16243	0.0685		0.0378	False		,,,				2504	0.0552				p.G369R		Atlas-SNP	.											.	RAD9B	50	.	0			c.G1105A						PASS	.	G	ARG/GLY	644,3762	261.9+/-264.6	53,538,1612	68	52	57		1105	1.3	0	12	dbSNP_126	57	282,8318	100.1+/-161.6	6,270,4024	yes	missense	RAD9B	NM_152442.3	125	59,808,5636	AA,AG,GG		3.2791,14.6164,7.1198	benign	369/430	110960196	926,12080	2203	4300	6503	SO:0001583	missense	144715	exon10			GTGCCAGGGTCTC		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.898G>A	12.37:g.110960196G>A	ENSP00000386697:p.Gly300Arg	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	213	113	0.530516	NM_152442	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37		144	0.06593406593406594	66	0.13414634146341464	13	0.03591160220994475	34	0.05944055944055944	31	0.040897097625329816	G	10.62	1.402734	0.25291	0.146164	0.032791	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.22945	1.93;2.25;2.27;1.93;2.1	5.26	1.29	0.21616	.	1.349910	0.04442	N	0.371039	T	0.00144	0.0004	L	0.44542	1.39	0.09310	N	1	B;B;B	0.31125	0.025;0.309;0.294	B;B;B	0.32289	0.019;0.143;0.078	T	0.21552	-1.0242	10	0.51188	T	0.08	-0.1357	7.6457	0.28318	0.3825:0.0:0.6175:0.0	rs34513555;rs34513555	300;369;366	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	R	297;369;369;297;300	ENSP00000387329:G297R;ENSP00000376440:G369R;ENSP00000386434:G369R;ENSP00000386629:G297R;ENSP00000386697:G300R	ENSP00000376440:G369R	G	+	1	0	RAD9B	109444579	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.018000	0.13422	0.300000	0.22699	-0.140000	0.14226	GGG	G|0.924;A|0.076	0.076	strong		0.468	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		A	110960196	G	A	110960196	3	1	23	1	0	0	0	0	1	0	0	0	12996	1000	35	2	1143	2	RAD9B	12	110960196	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	486126	110960196	22891699	3156	19612										
ATXN2	6311	hgsc.bcm.edu	37	chr12	111907956	111907956	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagccccgtactgagttgctGaagaagatactaaaccaggc	11	10	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:111907956G>C	ENST00000377617.3	-	20	3433	c.3272C>G	c.(3271-3273)tCa>tGa	p.S1091*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.S802*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.S826*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.S931*|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.S828*	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1091					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						CTGAGTTGCTGAAGAAGATAC	0.453																																					p.S1091X		Atlas-SNP	.											.	ATXN2	99	.	0			c.C3272G						PASS	.						218	172	188					12																	111907956		2203	4300	6503	SO:0001587	stop_gained	6311	exon20			GTTGCTGAAGAAG	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.3272C>G	12.37:g.111907956G>C	ENSP00000366843:p.Ser1091*	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	174	54	0.310345	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	41	8.647790	0.98899	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-12.4094	19.6783	0.95946	0.0:0.0:1.0:0.0	.	.	.	.	X	146;828;1091;110;826;802;16	.	ENSP00000366843:S1091X	S	-	2	0	ATXN2	110392339	1.000000	0.71417	0.973000	0.42090	0.782000	0.44232	9.301000	0.96167	2.724000	0.93272	0.585000	0.79938	TCA	.	.	none		0.453	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		C	111907956	G	C	111907956	4	2	23	1	0	0	0	0	0	1	0	0	1211	1294	45	4	693	4	ATXN2	12	111907956	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	947760	111907956	21943939	3157	19613										
OAS3	4940	hgsc.bcm.edu	37	chr12	113386779	113386779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtacccaagagcagggagCaaacctccctcatgcccagc	10	15	1	1	rs2285933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113386779C>G	ENST00000228928.7	+	6	1322	c.1143C>G	c.(1141-1143)agC>agG	p.S381R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	381	Linker.		S -> R (in dbSNP:rs2285933). {ECO:0000269|PubMed:15489334}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGCAGGGAGCAAACCTCCCT	0.607													C|||	1405	0.280551	0.4092	0.379	5008	,	,		19978	0.1577		0.2565	False		,,,				2504	0.1881				p.S381R		Atlas-SNP	.											OAS3,brain,glioma,0,1	OAS3	63	1	0			c.C1143G						PASS	.	C	ARG/SER	1450,2514		249,952,781	37	41	40		1143	0	0	12	dbSNP_100	40	2178,6156		291,1596,2280	yes	missense	OAS3	NM_006187.2	110	540,2548,3061	GG,GC,CC		26.1339,36.5792,29.5007	benign	381/1088	113386779	3628,8670	1982	4167	6149	SO:0001583	missense	4940	exon6			AGGGAGCAAACCT	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1143C>G	12.37:g.113386779C>G	ENSP00000228928:p.Ser381Arg	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	196	85	0.433673	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	621	0.28434065934065933	194	0.3943089430894309	117	0.32320441988950277	105	0.18356643356643357	205	0.2704485488126649	C	2.291	-0.362396	0.05103	0.365792	0.261339	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.06687	3.27	3.0	0.0313	0.14170	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.26002	0.139	B	0.12156	0.007	T	0.47623	-0.9103	8	0.51188	T	0.08	.	3.3881	0.07278	0.0:0.52:0.2178:0.2622	rs2285933;rs2285933	381	Q9Y6K5	OAS3_HUMAN	R	381	ENSP00000228928:S381R	ENSP00000228928:S381R	S	+	3	2	OAS3	111871162	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.993000	0.03720	-0.002000	0.14469	-0.145000	0.13849	AGC	C|0.724;G|0.276	0.276	strong		0.607	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			G	113386779	C	G	113386779	3	3	23	1	0	0	0	0	1	0	0	0	10801	709	25	4	1165	4	OAS3	12	113386779	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1478823	113386779	20465116	3158	19614										
OAS3	4940	hgsc.bcm.edu	37	chr12	113403684	113403684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccgagatccgagcccagCtggaggcatgtcaacaggag	13	12	2	1	rs2240188	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113403684C>T	ENST00000228928.7	+	12	2718	c.2539C>T	c.(2539-2541)Ctg>Ttg	p.L847L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	847	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCGAGCCCAGCTGGAGGCATG	0.582													C|||	1423	0.284145	0.4221	0.3775	5008	,	,		21311	0.1558		0.2604	False		,,,				2504	0.1881				p.L847L		Atlas-SNP	.											.	OAS3	63	.	0			c.C2539T						PASS	.	C		1461,2543		252,957,793	34	38	37		2539	2.5	1	12	dbSNP_98	37	2231,6139		305,1621,2259	no	coding-synonymous	OAS3	NM_006187.2		557,2578,3052	TT,TC,CC		26.6547,36.4885,29.8368		847/1088	113403684	3692,8682	2002	4185	6187	SO:0001819	synonymous_variant	4940	exon12			GCCCAGCTGGAGG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2539C>T	12.37:g.113403684C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	116	54	0.465517	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																			C|0.728;T|0.272	0.272	strong		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113403684	C	T	113403684	2	4	23	1	0	0	0	0	0	0	0	1	10801	796	28	2		2	OAS3	12	113403684	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16905	113403684	20448211	3159	19615										
RASAL1	8437	hgsc.bcm.edu	37	chr12	113541999	113541999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggtggtgtgcagcgccccCgtgccgtcctgcgtcaccac	13	16	1	0	rs148186900	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113541999C>T	ENST00000261729.5	-	18	2247	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	RASAL1_ENST00000446861.3_Silent_p.T616T|RASAL1_ENST00000546530.1_Silent_p.T646T|RASAL1_ENST00000548055.1_Silent_p.T645T|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	644	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCAGCGCCCCCGTGCCGTCCT	0.697													C|||	15	0.00299521	0.0	0.0144	5008	,	,		14490	0.0		0.001	False		,,,				2504	0.0041				p.T646T		Atlas-SNP	.											RASAL1,NS,carcinoma,-1,1	RASAL1	89	1	0			c.G1938A						scavenged	.	C	,,	8,4392		0,8,2192	29	26	27		1938,1848,1932	-5.9	0.1	12	dbSNP_134	27	42,8554		0,42,4256	no	coding-synonymous,coding-synonymous,coding-synonymous	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	,,	0,50,6448	TT,TC,CC		0.4886,0.1818,0.3847	,,	646/807,616/777,644/805	113541999	50,12946	2200	4298	6498	SO:0001819	synonymous_variant	8437	exon18			CGCCCCCGTGCCG	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1932G>A	12.37:g.113541999C>T		Somatic	358	0	0		WXS	Illumina HiSeq	Phase_I	308	4	0.012987	NM_001193520	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	CCDS9165.1																																																																																			C|0.997;T|0.003	0.003	strong		0.697	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		T	113541999	C	T	113541999	2	4	23	1	0	0	0	0	0	0	0	1	13063	639	23	1		1	RASAL1	12	113541999	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	138315	113541999	20309896	3160	19616										
RASAL1	8437	hgsc.bcm.edu	37	chr12	113565933	113565933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatccagaggcaggtgcaccGtgtactcctccccccagaag	10	15	0	2	rs34598602	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113565933G>A	ENST00000261729.5	-	4	488	c.173C>T	c.(172-174)aCg>aTg	p.T58M	RASAL1_ENST00000446861.3_Missense_Mutation_p.T58M|RASAL1_ENST00000546530.1_Missense_Mutation_p.T58M|RASAL1_ENST00000548055.1_Missense_Mutation_p.T58M|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	58	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		T -> M (in dbSNP:rs34598602). {ECO:0000269|PubMed:15489334}.		intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CAGGTGCACCGTGTACTCCTC	0.617													G|||	117	0.0233626	0.0038	0.0403	5008	,	,		15576	0.0		0.0706	False		,,,				2504	0.0133				p.T58M		Atlas-SNP	.											.	RASAL1	89	.	0			c.C173T						PASS	.	G	MET/THR,MET/THR,MET/THR	70,4336	64.1+/-101.4	0,70,2133	199	197	197		173,173,173	5.1	0.9	12	dbSNP_126	197	535,8065	148.8+/-204.0	17,501,3782	yes	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	81,81,81	17,571,5915	AA,AG,GG		6.2209,1.5887,4.6517	probably-damaging,probably-damaging,probably-damaging	58/807,58/777,58/805	113565933	605,12401	2203	4300	6503	SO:0001583	missense	8437	exon4			TGCACCGTGTACT	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.173C>T	12.37:g.113565933G>A	ENSP00000261729:p.Thr58Met	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	83	43	0.518072	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	67	0.030677655677655676	5	0.01016260162601626	12	0.03314917127071823	0	0.0	50	0.06596306068601583	G	23.2	4.393216	0.83011	0.015887	0.062209	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.60455	1.87	0.48511	D	0.999668	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.975;0.993;1.0	T	0.65965	-0.6040	10	0.52906	T	0.07	.	17.315	0.87221	0.0:0.0:1.0:0.0	rs34598602	58;58;70;58;58;58	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	M	58	ENSP00000450244:T58M;ENSP00000261729:T58M;ENSP00000395920:T58M;ENSP00000448510:T58M	ENSP00000261729:T58M	T	-	2	0	RASAL1	112050316	1.000000	0.71417	0.939000	0.37840	0.913000	0.54294	8.924000	0.92827	2.394000	0.81467	0.491000	0.48974	ACG	G|0.957;A|0.043	0.043	strong		0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113565933	G	A	113565933	3	1	23	1	0	0	0	0	1	0	0	0	13063	1145	40	1	2317	1	RASAL1	12	113565933	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23934	113565933	20285962	3161	19617										
RASAL1	8437	hgsc.bcm.edu	37	chr12	113573237	113573237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcgcgcggccctccaccaCgcgaacattcagggagctgc	12	17	1	0	rs7960087	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113573237C>G	ENST00000261729.5	-	2	346	c.31G>C	c.(31-33)Gtg>Ctg	p.V11L	RASAL1_ENST00000446861.3_Missense_Mutation_p.V11L|RASAL1_ENST00000546530.1_Missense_Mutation_p.V11L|RASAL1_ENST00000548055.1_Missense_Mutation_p.V11L|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	11	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		V -> L (in dbSNP:rs7960087). {ECO:0000269|PubMed:15489334}.		intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.V11L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCCTCCACCACGCGAACATTC	0.677													C|||	97	0.019369	0.0144	0.0317	5008	,	,		11792	0.0		0.0457	False		,,,				2504	0.0102				p.V11L		Atlas-SNP	.											RASAL1,NS,carcinoma,0,2	RASAL1	89	2	2	Substitution - Missense(2)	prostate(2)	c.G31C						scavenged	.	C	LEU/VAL,LEU/VAL,LEU/VAL	90,4306		2,86,2110	34	30	31		31,31,31	3.4	1	12	dbSNP_116	31	309,8285		5,299,3993	yes	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	32,32,32	7,385,6103	GG,GC,CC		3.5955,2.0473,3.0716	benign,benign,benign	11/807,11/777,11/805	113573237	399,12591	2198	4297	6495	SO:0001583	missense	8437	exon2			CCACCACGCGAAC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.31G>C	12.37:g.113573237C>G	ENSP00000261729:p.Val11Leu	Somatic	240	2	0.00833333		WXS	Illumina HiSeq	Phase_I	199	96	0.482412	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	45	0.020604395604395604	5	0.01016260162601626	7	0.019337016574585635	0	0.0	33	0.04353562005277045	C	9.955	1.221292	0.22457	0.020473	0.035955	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	3.44	3.44	0.39384	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.301944	0.26362	N	0.024816	T	0.01454	0.0047	N	0.10760	0.04	0.26908	N	0.966964	B;B;B;B;B;B	0.14805	0.011;0.009;0.011;0.005;0.003;0.009	B;B;B;B;B;B	0.14578	0.011;0.006;0.011;0.009;0.01;0.006	T	0.22765	-1.0207	10	0.49607	T	0.09	.	10.5931	0.45321	0.0:1.0:0.0:0.0	rs7960087;rs7960087	11;11;23;11;11;11	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	L	11	ENSP00000450244:V11L;ENSP00000261729:V11L;ENSP00000395920:V11L;ENSP00000448510:V11L	ENSP00000261729:V11L	V	-	1	0	RASAL1	112057620	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	1.663000	0.37429	1.946000	0.56461	0.484000	0.47621	GTG	C|0.974;G|0.026	0.026	strong		0.677	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		G	113573237	C	G	113573237	3	3	23	1	0	0	0	0	1	0	0	0	13063	536	19	4	2467	4	RASAL1	12	113573237	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7304	113573237	20278658	3162	19618										
DDX54	79039	hgsc.bcm.edu	37	chr12	113596866	113596866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcttggtcttgagttccGggcggactcggcctgcaggg	17	11	1	1	rs1048889	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113596866G>A	ENST00000306014.5	-	20	2489	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	DDX54_ENST00000314045.7_Missense_Mutation_p.P822L|CCDC42B_ENST00000335621.6_3'UTR|DDX54_ENST00000549271.1_5'UTR|Y_RNA_ENST00000363029.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	821			P -> L (in dbSNP:rs1048889).		ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTGAGTTCCGGGCGGACTCG	0.662													G|||	124	0.0247604	0.0023	0.0432	5008	,	,		15410	0.0		0.0805	False		,,,				2504	0.0102				p.P822L		Atlas-SNP	.											.	DDX54	73	.	0			c.C2465T						PASS	.	G	LEU/PRO,,LEU/PRO	56,4350		1,54,2148	17	19	18		2465,,2462	5.1	0.9	12	dbSNP_86	18	498,8102		16,466,3818	yes	missense,utr-3,missense	DDX54,CCDC42B	NM_001111322.1,NM_001144872.1,NM_024072.3	98,,98	17,520,5966	AA,AG,GG		5.7907,1.271,4.2596	benign,,benign	822/883,,821/882	113596866	554,12452	2203	4300	6503	SO:0001583	missense	79039	exon20			AGTTCCGGGCGGA	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2462C>T	12.37:g.113596866G>A	ENSP00000304072:p.Pro821Leu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	86	36	0.418605	NM_001111322	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	80	0.03663003663003663	3	0.006097560975609756	16	0.04419889502762431	0	0.0	61	0.08047493403693931	G	14.61	2.587399	0.46110	0.01271	0.057907	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.09350	2.99;2.99	5.06	5.06	0.68205	.	0.218861	0.40908	D	0.000994	T	0.00496	0.0016	L	0.29908	0.895	0.20074	P	0.9999367728	B;B	0.17667	0.009;0.023	B;B	0.15870	0.013;0.014	T	0.23797	-1.0178	9	0.33141	T	0.24	.	16.5805	0.84713	0.0:0.0:1.0:0.0	rs1048889;rs1048889	822;821	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	L	822;821	ENSP00000323858:P822L;ENSP00000304072:P821L	ENSP00000304072:P821L	P	-	2	0	DDX54	112081249	1.000000	0.71417	0.886000	0.34754	0.404000	0.30871	8.858000	0.92256	2.509000	0.84616	0.561000	0.74099	CCG	G|0.963;A|0.037	0.037	strong		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		A	113596866	G	A	113596866	3	1	23	1	0	0	0	0	1	0	0	0	4372	1116	39	1	187	1	DDX54	12	113596866	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23629	113596866	20255029	3163	19619										
DDX54	79039	hgsc.bcm.edu	37	chr12	113600940	113600940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagccagccactcaccccCgctcgctgtcaaagtccttg	7	20	2	0	rs11564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113600940C>T	ENST00000306014.5	-	16	2105	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	DDX54_ENST00000314045.7_Missense_Mutation_p.R693Q|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	693			R -> Q (in dbSNP:rs11564).		ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CACTCACCCCCGCTCGCTGTC	0.637													C|||	155	0.0309505	0.025	0.0447	5008	,	,		15348	0.0		0.0805	False		,,,				2504	0.0102				p.R693Q		Atlas-SNP	.											.	DDX54	73	.	0			c.G2078A						PASS	.	C	GLN/ARG,GLN/ARG	115,4291	85.8+/-124.5	1,113,2089	47	54	52		2078,2078	4.2	1	12	dbSNP_52	52	501,8099	142.3+/-198.5	14,473,3813	yes	missense,missense	DDX54	NM_001111322.1,NM_024072.3	43,43	15,586,5902	TT,TC,CC		5.8256,2.6101,4.7363	possibly-damaging,possibly-damaging	693/883,693/882	113600940	616,12390	2203	4300	6503	SO:0001583	missense	79039	exon16			CACCCCCGCTCGC	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2078G>A	12.37:g.113600940C>T	ENSP00000304072:p.Arg693Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	103	45	0.436893	NM_024072	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	86	0.039377289377289376	8	0.016260162601626018	16	0.04419889502762431	0	0.0	62	0.08179419525065963	C	17.30	3.355570	0.61293	0.026101	0.058256	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.11277	2.79;2.8	5.1	4.21	0.49690	.	0.112829	0.56097	D	0.000030	T	0.00666	0.0022	M	0.73598	2.24	0.19575	P	0.9999672619	B;B	0.25486	0.127;0.078	B;B	0.18561	0.022;0.01	T	0.10359	-1.0633	9	0.21014	T	0.42	.	13.0042	0.58694	0.0:0.9213:0.0:0.0787	rs11564;rs1130231;rs3188910;rs17296035;rs17354493;rs34797478	693;693	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Q	693	ENSP00000323858:R693Q;ENSP00000304072:R693Q	ENSP00000304072:R693Q	R	-	2	0	DDX54	112085323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.529000	0.60588	1.146000	0.42352	0.643000	0.83706	CGG	C|0.954;T|0.046	0.046	strong		0.637	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		T	113600940	C	T	113600940	3	4	23	1	0	0	0	0	1	0	0	0	4372	652	23	1	590	1	DDX54	12	113600940	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4074	113600940	20250955	3164	19620										
TPCN1	53373	hgsc.bcm.edu	37	chr12	113733830	113733830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagcagcagtgcagccccCgccgcccagcagcccccagg	11	21	1	0	rs61943642	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:113733830C>T	ENST00000335509.6	+	28	2714	c.2400C>T	c.(2398-2400)ccC>ccT	p.P800P	TPCN1_ENST00000392569.4_Silent_p.P732P|TPCN1_ENST00000541517.1_Silent_p.P872P|TPCN1_ENST00000550785.1_Silent_p.P872P	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	800					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGCAGCCCCCGCCGCCCAGC	0.617													C|||	123	0.0245607	0.0023	0.0461	5008	,	,		11380	0.0		0.0775	False		,,,				2504	0.0102				p.P872P		Atlas-SNP	.											.	TPCN1	109	.	0			c.C2616T						PASS	.	C	,	60,4340	48.9+/-83.8	2,56,2142	27	32	30		2616,2400	0.7	0	12	dbSNP_129	30	498,8102	133.3+/-190.8	13,472,3815	no	coding-synonymous,coding-synonymous	TPCN1	NM_001143819.1,NM_017901.4	,	15,528,5957	TT,TC,CC		5.7907,1.3636,4.2923	,	872/889,800/817	113733830	558,12442	2200	4300	6500	SO:0001819	synonymous_variant	53373	exon29			AGCCCCCGCCGCC	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2400C>T	12.37:g.113733830C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	121	60	0.495868	NM_001143819	A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1																																																																																			C|0.958;T|0.042	0.042	strong		0.617	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		T	113733830	C	T	113733830	2	4	23	1	0	0	0	0	0	0	0	1	16392	639	23	1		1	TPCN1	12	113733830	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	132890	113733830	20118065	3165	19621										
RBM19	9904	hgsc.bcm.edu	37	chr12	114282496	114282496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagtgagcggccgtcttcCgccgcagggcctgcagggtc	16	13	1	1	rs2075387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:114282496C>T	ENST00000545145.2	-	23	2840	c.2762G>A	c.(2761-2763)cGg>cAg	p.R921Q	RBM19_ENST00000392561.3_Missense_Mutation_p.R921Q|RBM19_ENST00000261741.5_Missense_Mutation_p.R921Q	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	921			R -> Q (in dbSNP:rs2075387). {ECO:0000269|PubMed:11230166}.		multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCCGTCTTCCGCCGCAGGGC	0.647													C|||	1100	0.219649	0.1815	0.2032	5008	,	,		17432	0.131		0.3002	False		,,,				2504	0.2914				p.R921Q		Atlas-SNP	.											.	RBM19	117	.	0			c.G2762A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	776,3630	286.9+/-279.0	78,620,1505	35	32	33		2762,2762,2762	5.1	1	12	dbSNP_96	33	2321,6279	356.9+/-330.5	326,1669,2305	yes	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	43,43,43	404,2289,3810	TT,TC,CC		26.9884,17.6123,23.8121	possibly-damaging,possibly-damaging,possibly-damaging	921/961,921/961,921/961	114282496	3097,9909	2203	4300	6503	SO:0001583	missense	9904	exon23			GTCTTCCGCCGCA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2762G>A	12.37:g.114282496C>T	ENSP00000442053:p.Arg921Gln	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	49	33	0.673469	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	486	0.22252747252747251	100	0.2032520325203252	74	0.20441988950276244	78	0.13636363636363635	234	0.3087071240105541	C	21.4	4.143675	0.77888	0.176123	0.269884	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05258	3.47;3.47;3.47	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.62723	1.935	0.09310	P	0.99999854926	D	0.69078	0.997	P	0.59595	0.86	T	0.43475	-0.9389	9	0.56958	D	0.05	-9.4086	18.1548	0.89687	0.0:1.0:0.0:0.0	rs2075387;rs60062169;rs2075387	921	Q9Y4C8	RBM19_HUMAN	Q	921	ENSP00000442053:R921Q;ENSP00000376344:R921Q;ENSP00000261741:R921Q	ENSP00000261741:R921Q	R	-	2	0	RBM19	112766879	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	4.408000	0.59761	2.368000	0.80403	0.561000	0.74099	CGG	C|0.781;T|0.219	0.219	strong		0.647	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114282496	C	T	114282496	3	4	23	1	0	0	0	0	1	0	0	0	13121	652	23	1	128	1	RBM19	12	114282496	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	548666	114282496	19569399	3166	19622										
VSIG10	54621	hgsc.bcm.edu	37	chr12	118506328	118506333	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcccctactgcagcatctTcctcctcctcctcctcctcc					rs67582641|rs199991783|rs72125532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	TCCTCC	TCCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:118506328_118506333delTCCTCC	ENST00000359236.5	-	8	1692_1697	c.1416_1421delGGAGGA	c.(1414-1422)gaggaggaa>gaa	p.472_474EEE>E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	472	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCAGCAtcttcctcctcctcctcct	0.485														1628	0.32508	0.3737	0.2939	5008	,	,		23177	0.5248		0.1829	False		,,,				2504	0.2219				p.473_474del		Atlas-Indel	.											.	VSIG10	41	.	0			c.1417_1422del						PASS	.																																			SO:0001651	inframe_deletion	54621	exon8			.		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1416_1421delGGAGGA	12.37:g.118506334_118506339delTCCTCC	ENSP00000352172:p.Glu472_Glu473del	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	232	45	0.193966	NM_019086	Q9NWQ7	In_Frame_Del	DEL	ENST00000359236.5	37	CCDS44992.1																																																																																			.	.	strong		0.485	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		-	118506333	TCCTCC	-	118506328	7	5	23	1	0	1	0	1	0	0	0	0	17220	1783	62	0	209	0	VSIG10	12	118506328	In_Frame_Del	DEL	TCCTCC	TCGA-GR-7353-01A-11D-2210-10	4223832	118506328	15345567	3167	19623										
VSIG10	54621	hgsc.bcm.edu	37	chr12	118509191	118509191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagaacacagggctataatGcaacagaagccctgagataa	10	9	0	3	rs7307331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:118509191G>A	ENST00000359236.5	-	6	1579	c.1303C>T	c.(1303-1305)Cat>Tat	p.H435Y		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	435			H -> Y (in dbSNP:rs7307331). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGGCTATAATGCAACAGAAGC	0.502													A|||	2714	0.541933	0.7337	0.5072	5008	,	,		19367	0.7808		0.2813	False		,,,				2504	0.3292				p.H435Y		Atlas-SNP	.											.	VSIG10	41	.	0			c.C1303T						PASS	.	A	TYR/HIS	2457,1341		789,879,231	112	118	116		1303	5.2	1	12	dbSNP_116	116	2364,5868		343,1678,2095	yes	missense	VSIG10	NM_019086.5	83	1132,2557,2326	AA,AG,GG		28.7172,35.3081,40.0748	benign	435/541	118509191	4821,7209	1899	4116	6015	SO:0001583	missense	54621	exon6			TATAATGCAACAG		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1303C>T	12.37:g.118509191G>A	ENSP00000352172:p.His435Tyr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	151	66	0.437086	NM_019086	Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	CCDS44992.1	1150	0.5265567765567766	348	0.7073170731707317	165	0.4558011049723757	433	0.756993006993007	204	0.2691292875989446	A	0.457	-0.890959	0.02491	0.646919	0.287172	ENSG00000176834	ENST00000359236	T	0.47528	0.84	5.15	5.15	0.70609	.	0.000000	0.38272	N	0.001751	T	0.00012	0.0000	N	0.00104	-2.125	0.48395	P	3.5799999999996945E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	9	0.06625	T	0.88	-8.5865	11.2621	0.49089	0.928:0.0:0.072:0.0	rs7307331;rs59386576;rs7307331	435	Q8N0Z9	VSI10_HUMAN	Y	435	ENSP00000352172:H435Y	ENSP00000352172:H435Y	H	-	1	0	VSIG10	116993574	0.999000	0.42202	0.959000	0.39883	0.215000	0.24574	3.890000	0.56220	0.926000	0.37118	-0.535000	0.04281	CAT	G|0.472;A|0.528	0.528	strong		0.502	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		A	118509191	G	A	118509191	3	1	23	1	0	0	0	0	1	0	0	0	17220	1319	46	2	335	2	VSIG10	12	118509191	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2863	118509191	15342704	3168	19624										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120589064	120589064	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaggcccgccaggccataGgcggcccctttgcgctctgc	12	18	1	0	rs2286045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:120589064G>C	ENST00000300648.6	-	34	4206	c.4194C>G	c.(4192-4194)gcC>gcG	p.A1398A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1398					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGCCATAGGCGGCCCCTT	0.587													C|||	1915	0.382388	0.6573	0.17	5008	,	,		17533	0.5427		0.1561	False		,,,				2504	0.229				p.A1398A		Atlas-SNP	.											GCN1L1,colon,carcinoma,0,1	GCN1L1	207	1	0			c.C4194G						PASS	.	C		2419,1901		682,1055,423	48	54	52		4194	-10.6	0	12	dbSNP_100	52	1304,7214		126,1052,3081	no	coding-synonymous	GCN1L1	NM_006836.1		808,2107,3504	CC,CG,GG		15.3088,44.0046,28.9998		1398/2672	120589064	3723,9115	2160	4259	6419	SO:0001819	synonymous_variant	10985	exon34			GCCATAGGCGGCC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4194C>G	12.37:g.120589064G>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	135	50	0.37037	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			G|0.685;C|0.315	0.315	strong		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			C	120589064	G	C	120589064	2	2	23	1	0	0	0	0	0	0	0	1	6299	987	35	4		4	GCN1L1	12	120589064	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2079873	120589064	13262831	3169	19625										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120591143	120591143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acactctgtcgcacagcatcAtagctggcatcattgggcgc	10	13	3	0	rs12312562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:120591143A>G	ENST00000300648.6	-	33	3948	c.3936T>C	c.(3934-3936)taT>taC	p.Y1312Y	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1312					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCATCATAGCTGGCAT	0.557													G|||	1712	0.341853	0.5053	0.1441	5008	,	,		21235	0.5546		0.1551	False		,,,				2504	0.2342				p.Y1312Y		Atlas-SNP	.											GCN1L1,colon,carcinoma,0,1	GCN1L1	207	1	0			c.T3936C						PASS	.	G		1762,2454		393,976,739	71	78	76		3936	-12.2	0	12	dbSNP_120	76	1258,7180		118,1022,3079	no	coding-synonymous	GCN1L1	NM_006836.1		511,1998,3818	GG,GA,AA		14.9087,41.7932,23.866		1312/2672	120591143	3020,9634	2108	4219	6327	SO:0001819	synonymous_variant	10985	exon33			AGCATCATAGCTG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3936T>C	12.37:g.120591143A>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	118	46	0.38983	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			A|0.657;G|0.343	0.343	strong		0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120591143	A	G	120591143	2	3	23	1	0	0	0	0	0	0	0	1	6299	224	8	2		2	GCN1L1	12	120591143	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2079	120591143	13260752	3170	19626										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120602208	120602208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcttaaagcccccaagagAggacagcagcttccgaactg	10	13	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:120602208A>G	ENST00000300648.6	-	18	1792	c.1780T>C	c.(1780-1782)Tct>Cct	p.S594P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	594					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCCCAAGAGAGGACAGCAGC	0.622																																					p.S594P		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T1780C						PASS	.						75	80	78					12																	120602208		1969	4161	6130	SO:0001583	missense	10985	exon18			CAAGAGAGGACAG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1780T>C	12.37:g.120602208A>G	ENSP00000300648:p.Ser594Pro	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220268	0.58560	.	.	ENSG00000089154	ENST00000300648	T	0.05199	3.48	5.83	4.67	0.58626	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	M	0.74881	2.28	0.80722	D	1	D	0.54047	0.964	P	0.54590	0.756	T	0.01570	-1.1322	10	0.30854	T	0.27	.	13.3498	0.60595	0.8686:0.1314:0.0:0.0	.	594	Q92616	GCN1L_HUMAN	P	594	ENSP00000300648:S594P	ENSP00000300648:S594P	S	-	1	0	GCN1L1	119086591	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.545000	0.67237	1.022000	0.39626	0.533000	0.62120	TCT	.	.	none		0.622	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120602208	A	G	120602208	3	3	23	1	0	0	0	0	1	0	0	0	6299	304	11	3	6399	3	GCN1L1	12	120602208	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11065	120602208	13249687	3171	19627										
GCN1L1	10985	hgsc.bcm.edu	37	chr12	120608031	120608031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggctgcggcaaccccttcAgtgatggtgggaacctgagt	14	10	1	2	rs2286050	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:120608031A>G	ENST00000300648.6	-	15	1473	c.1461T>C	c.(1459-1461)acT>acC	p.T487T	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	487					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACCCCTTCAGTGATGGTGG	0.567													A|||	1447	0.288938	0.3101	0.1297	5008	,	,		20192	0.5655		0.1541	False		,,,				2504	0.227				p.T487T		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T1461C						PASS	.	A		1140,3030		166,808,1111	109	115	113		1461	-11.7	0.5	12	dbSNP_100	113	1244,7210		114,1016,3097	no	coding-synonymous	GCN1L1	NM_006836.1		280,1824,4208	GG,GA,AA		14.7149,27.3381,18.8847		487/2672	120608031	2384,10240	2085	4227	6312	SO:0001819	synonymous_variant	10985	exon15			CCCTTCAGTGATG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1461T>C	12.37:g.120608031A>G		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	167	75	0.449102	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			A|0.709;G|0.291	0.291	strong		0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120608031	A	G	120608031	2	3	23	1	0	0	0	0	0	0	0	1	6299	175	7	3		3	GCN1L1	12	120608031	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5823	120608031	13243864	3172	19628										
HNF1A	6927	hgsc.bcm.edu	37	chr12	121437114	121437114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcccagtacacccacacGggcctgctcccgcagactat	10	17	0	1	rs55834942	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:121437114G>A	ENST00000257555.6	+	8	1771	c.1545G>A	c.(1543-1545)acG>acA	p.T515T	HNF1A_ENST00000544413.1_Silent_p.T515T|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Silent_p.T515T			P20823	HNF1A_HUMAN	HNF1 homeobox A	515					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACACCCACACGGGCCTGCTCC	0.677									Hepatic Adenoma, Familial Clustering of				.|||	315	0.0628994	0.0121	0.1095	5008	,	,		16172	0.001		0.1988	False		,,,				2504	0.0225				p.T515T		Atlas-SNP	.											HNF1A,brain,glioma,0,4	HNF1A	302	4	0			c.G1545A						PASS	.	G		175,4231	113.3+/-151.4	4,167,2032	68	70	70		1545	-7.7	0.9	12	dbSNP_129	70	1654,6944	303.3+/-306.4	156,1342,2801	yes	coding-synonymous	HNF1A	NM_000545.5		160,1509,4833	AA,AG,GG		19.237,3.9719,14.0649		515/632	121437114	1829,11175	2203	4299	6502	SO:0001819	synonymous_variant	6927	exon8	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	CCACACGGGCCTG	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1545G>A	12.37:g.121437114G>A		Somatic	230	1	0.00434783		WXS	Illumina HiSeq	Phase_I	241	117	0.485477	NM_000545	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	CCDS9209.1																																																																																			G|0.860;A|0.140	0.140	strong		0.677	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		A	121437114	G	A	121437114	2	1	23	1	0	0	0	0	0	0	0	1	7251	1103	39	1		1	HNF1A	12	121437114	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	829083	121437114	12414781	3173	19629										
P2RX7	5027	hgsc.bcm.edu	37	chr12	121605355	121605355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgttggttccatcactgccGtcccaaatacagtttccgtc	7	15	1	0	rs7958311	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:121605355G>A	ENST00000546057.1	+	8	952	c.809G>A	c.(808-810)cGt>cAt	p.R270H	P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000328963.5_Missense_Mutation_p.R100H|P2RX7_ENST00000535250.1_Missense_Mutation_p.R180H	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	270			R -> C (in dbSNP:rs16950860).|R -> H (in dbSNP:rs7958311). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15896293, ECO:0000269|PubMed:9038151}.		apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)	p.R270H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATCACTGCCGTCCCAAATAC	0.522													G|||	1281	0.255791	0.2708	0.2968	5008	,	,		17536	0.3958		0.2296	False		,,,				2504	0.089				p.R270H		Atlas-SNP	.											P2RX7,NS,carcinoma,0,1	P2RX7	53	1	1	Substitution - Missense(1)	stomach(1)	c.G809A						PASS	.	G	HIS/ARG	1054,3352	385.4+/-325.7	138,778,1287	213	157	176		809	1	0.8	12	dbSNP_116	176	2128,6472	367.3+/-334.7	263,1602,2435	yes	missense	P2RX7	NM_002562.5	29	401,2380,3722	AA,AG,GG		24.7442,23.9219,24.4656	possibly-damaging	270/596	121605355	3182,9824	2203	4300	6503	SO:0001583	missense	5027	exon8			ACTGCCGTCCCAA	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.809G>A	12.37:g.121605355G>A	ENSP00000442349:p.Arg270His	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	202	100	0.49505	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	631	0.2889194139194139	114	0.23170731707317074	106	0.292817679558011	237	0.4143356643356643	174	0.22955145118733508	G	13.79	2.342889	0.41498	0.239219	0.247442	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	T;T;T	0.04234	3.67;3.67;3.67	6.04	0.975	0.19721	.	0.458332	0.22674	N	0.057023	T	0.00012	0.0000	L	0.45698	1.435	0.58432	P	1.0000000000287557E-6	D;D;D	0.58970	0.975;0.98;0.984	B;P;P	0.49332	0.387;0.472;0.607	T	0.37009	-0.9724	9	0.11182	T	0.66	.	5.6648	0.17689	0.3333:0.0:0.5471:0.1196	rs7958311;rs17855427;rs7958311	100;180;270	F8W951;F5H7E8;Q99572	.;.;P2RX7_HUMAN	H	270;100;180	ENSP00000442349:R270H;ENSP00000330696:R100H;ENSP00000442572:R180H	ENSP00000330696:R100H	R	+	2	0	P2RX7	120089738	0.013000	0.17824	0.832000	0.32986	0.974000	0.67602	0.757000	0.26433	0.124000	0.18369	0.563000	0.77884	CGT	A|0.265;G|0.735;N|0.000	0.265	strong		0.522	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		A	121605355	G	A	121605355	3	1	23	1	0	0	0	0	1	0	0	0	11345	1145	40	1	839	1	P2RX7	12	121605355	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	168241	121605355	12246540	3174	19630										
CAMKK2	10645	hgsc.bcm.edu	37	chr12	121712077	121712077	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgggcctgggacccggaggTgtcaagggggacctcttggc	18	12	2	0	rs3817190	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:121712077T>A	ENST00000324774.5	-	2	1081	c.253A>T	c.(253-255)Acc>Tcc	p.T85S	CAMKK2_ENST00000412367.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.T85S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T85S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.T85S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T85S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T85S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T85S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	85			T -> S (in dbSNP:rs3817190). {ECO:0000269|PubMed:11395482, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9872452}.		calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCGGAGGTGTCAAGGGGG	0.692													T|||	2062	0.411741	0.6225	0.3084	5008	,	,		13569	0.2976		0.4076	False		,,,				2504	0.3221				p.T85S		Atlas-SNP	.											CAMKK2_ENST00000392473,NS,carcinoma,0,2	CAMKK2	87	2	0			c.A253T						scavenged	.	T	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	2469,1931		700,1069,431	20	24	23		253,253,253,253,253,253,253	-0.6	0	12	dbSNP_107	23	3539,5057		752,2035,1511	no	missense,missense,missense,missense,missense,missense,missense	CAMKK2	NM_006549.3,NM_153499.2,NM_153500.1,NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2	58,58,58,58,58,58,58	1452,3104,1942	AA,AT,TT		41.1703,43.8864,46.2296	benign,benign,benign,benign,benign,benign,benign	85/589,85/542,85/499,85/534,85/491,85/546,85/542	121712077	6008,6988	2200	4298	6498	SO:0001583	missense	10645	exon2			CGGAGGTGTCAAG	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.253A>T	12.37:g.121712077T>A	ENSP00000312741:p.Thr85Ser	Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	48	29	0.604167	NM_153500	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	936	0.42857142857142855	318	0.6463414634146342	121	0.3342541436464088	186	0.32517482517482516	311	0.4102902374670185	T	0.231	-1.020843	0.02061	0.561136	0.411703	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.6;-0.61;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;2.03;1.56	4.17	-0.591	0.11675	.	1.005170	0.08018	N	0.991504	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.001	T	0.43734	-0.9373	9	0.10902	T	0.67	-0.6485	2.7347	0.05237	0.3091:0.4379:0.152:0.101	rs3817190;rs17852337;rs3817190	85;85;85;85;85;85;85	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	S	85;85;85;85;85;85;85;68;85;85;85;85	ENSP00000376266:T85S;ENSP00000321230:T85S;ENSP00000445944:T85S;ENSP00000336634:T85S;ENSP00000312741:T85S;ENSP00000388368:T85S;ENSP00000384600:T85S;ENSP00000388273:T85S;ENSP00000376265:T85S;ENSP00000444894:T85S;ENSP00000445400:T85S	ENSP00000312741:T85S	T	-	1	0	CAMKK2	120196460	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.775000	0.04679	0.061000	0.16311	-0.464000	0.05259	ACC	T|0.543;A|0.457	0.457	strong		0.692	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		A	121712077	T	A	121712077	3	1	23	1	0	0	0	0	1	0	0	0	2607	1696	59	5	1587	5	CAMKK2	12	121712077	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	106722	121712077	12139818	3175	19631										
BCL7A	605	hgsc.bcm.edu	37	chr12	122497001	122497001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctcctctccccaaggatTtggaaggagtgccaccctct	8	14	3	0	rs28629903	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:122497001T>C	ENST00000261822.4	+	6	771	c.565T>C	c.(565-567)Ttg>Ctg	p.L189L	BCL7A_ENST00000538010.1_Silent_p.L210L	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	189					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCCCAAGGATTTGGAAGGAGT	0.522			T	MYC	BNHL								T|||	2531	0.505391	0.3487	0.6196	5008	,	,		19418	0.4921		0.5795	False		,,,				2504	0.5736				p.L210L	GBM(17;197 467 16477 23242 44349)	Atlas-SNP	.		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	.	BCL7A	31	.	0			c.T628C						PASS	.	T	,	1667,2739	506.6+/-366.4	313,1041,849	75	71	72		565,628	1.6	1	12	dbSNP_125	72	4817,3783	614.2+/-396.2	1332,2153,815	no	coding-synonymous,coding-synonymous	BCL7A	NM_001024808.1,NM_020993.3	,	1645,3194,1664	CC,CT,TT		43.9884,37.8348,49.8539	,	189/211,210/232	122497001	6484,6522	2203	4300	6503	SO:0001819	synonymous_variant	605	exon6			AAGGATTTGGAAG	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.565T>C	12.37:g.122497001T>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	110	106	0.963636	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	CCDS53841.1																																																																																			T|0.501;C|0.499	0.499	strong		0.522	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			C	122497001	T	C	122497001	2	2	23	1	0	0	0	0	0	0	0	1	1378	1838	64	2		2	BCL7A	12	122497001	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	784924	122497001	11354894	3176	19632										
MLXIP	22877	hgsc.bcm.edu	37	chr12	122618131	122618131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtctcccagccccgccccAccgcccatctcccccgtgtt	6	24	2	0	rs36045144	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:122618131A>G	ENST00000319080.7	+	9	1461	c.1329A>G	c.(1327-1329)ccA>ccG	p.P443P	MLXIP_ENST00000377037.2_Silent_p.P33P|MLXIP_ENST00000538698.1_Silent_p.P50P					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCCCCGCCCCACCGCCCATCT	0.652													A|||	1128	0.22524	0.2042	0.1974	5008	,	,		10846	0.2738		0.2306	False		,,,				2504	0.2178				p.P443P	Esophageal Squamous(105;787 1493 16200 18566 52466)	Atlas-SNP	.											.	MLXIP	46	.	0			c.A1329G						PASS	.	A		753,3347		82,589,1379	17	19	19		919	-10	0	12	dbSNP_126	19	1468,6918		136,1196,2861	no	coding-synonymous	MLXIP	NM_014938.3		218,1785,4240	GG,GA,AA		17.5054,18.3659,17.7879		443/920	122618131	2221,10265	2050	4193	6243	SO:0001819	synonymous_variant	22877	exon9			CGCCCCACCGCCC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1329A>G	12.37:g.122618131A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	115	62	0.53913	NM_014938		Silent	SNP	ENST00000319080.7	37																																																																																				A|0.784;G|0.216;T|0.000	0.216	strong		0.652	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		G	122618131	A	G	122618131	2	3	23	1	0	0	0	0	0	0	0	1	9636	146	6	2		2	MLXIP	12	122618131	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	121130	122618131	11233764	3177	19633										
CLIP1	6249	hgsc.bcm.edu	37	chr12	122817580	122817580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catttttgtcagctgagaagAgttatctcctgacatcttca	7	9	4	3	rs17883517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:122817580A>G	ENST00000540338.1	-	14	2862	c.2821T>C	c.(2821-2823)Tct>Cct	p.S941P	CLIP1_ENST00000361654.4_Missense_Mutation_p.S819P|CLIP1_ENST00000545889.1_Missense_Mutation_p.S516P|CLIP1_ENST00000537178.1_Missense_Mutation_p.S895P|CLIP1_ENST00000302528.7_Missense_Mutation_p.S930P|CLIP1_ENST00000358808.2_Missense_Mutation_p.S930P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	941			S -> P (in dbSNP:rs17883517). {ECO:0000269|PubMed:15489334}.		microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGCTGAGAAGAGTTATCTCCT	0.388													A|||	157	0.0313498	0.003	0.0591	5008	,	,		18646	0.001		0.1034	False		,,,				2504	0.0072				p.S941P		Atlas-SNP	.											.	CLIP1	126	.	0			c.T2821C						PASS	.	A	PRO/SER,PRO/SER	75,4331	67.0+/-104.6	1,73,2129	191	164	173		2788,2683	5.6	1	12	dbSNP_124	173	848,7748	193.0+/-238.8	37,774,3487	yes	missense,missense	CLIP1	NM_002956.2,NM_198240.1	74,74	38,847,5616	GG,GA,AA		9.8651,1.7022,7.0989	probably-damaging,probably-damaging	930/1428,895/1393	122817580	923,12079	2203	4298	6501	SO:0001583	missense	6249	exon15			GAGAAGAGTTATC		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2821T>C	12.37:g.122817580A>G	ENSP00000439093:p.Ser941Pro	Somatic	291	1	0.00343643		WXS	Illumina HiSeq	Phase_I	241	97	0.40249	NM_001247997	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	90	0.04120879120879121	1	0.0020325203252032522	20	0.055248618784530384	1	0.0017482517482517483	68	0.08970976253298153	A	27.9	4.876504	0.91664	0.017022	0.098651	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.78126	2.31;-1.15;-1.15;0.29;0.29;-1.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.74348	0.983;0.97;0.961	T	0.63269	-0.6675	10	0.56958	D	0.05	-9.4204	15.837	0.78805	1.0:0.0:0.0:0.0	rs17883517;rs17883517	895;930;941	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	P	516;930;930;660;895;941;788	ENSP00000438743:S516P;ENSP00000303585:S930P;ENSP00000351665:S930P;ENSP00000445531:S895P;ENSP00000439093:S941P;ENSP00000437786:S788P	ENSP00000303585:S930P	S	-	1	0	CLIP1	121383533	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.663000	0.91134	2.140000	0.66376	0.460000	0.39030	TCT	A|0.939;G|0.061	0.061	strong		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122817580	A	G	122817580	3	3	23	1	0	0	0	0	1	0	0	0	3532	304	11	3	1543	3	CLIP1	12	122817580	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	199449	122817580	11034315	3178	19634										
KNTC1	9735	hgsc.bcm.edu	37	chr12	123042027	123042027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggcaacaacttgtagacGacgctaaggaaaatctacat	8	8	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:123042027G>A	ENST00000333479.7	+	17	1546	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D420N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	457					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTTGTAGACGACGCTAAGGA	0.393																																					p.D457N		Atlas-SNP	.											KNTC1,NS,carcinoma,-2,1	KNTC1	182	1	0			c.G1369A						scavenged	.						127	116	120					12																	123042027		1889	4121	6010	SO:0001583	missense	9735	exon17			GTAGACGACGCTA		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1369G>A	12.37:g.123042027G>A	ENSP00000328236:p.Asp457Asn	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457581	0.43634	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23552	1.9;2.47	5.74	4.85	0.62838	.	0.051785	0.85682	D	0.000000	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B;B	0.27700	0.186;0.012	B;B	0.15870	0.014;0.002	T	0.07309	-1.0779	10	0.62326	D	0.03	-13.1538	11.2416	0.48972	0.0686:0.1278:0.8036:0.0	.	420;457	E7ES84;P50748	.;KNTC1_HUMAN	N	420;457	ENSP00000397992:D420N;ENSP00000328236:D457N	ENSP00000328236:D457N	D	+	1	0	KNTC1	121607980	1.000000	0.71417	0.666000	0.29783	0.092000	0.18411	6.852000	0.75430	1.568000	0.49683	0.563000	0.77884	GAC	.	.	none		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123042027	G	A	123042027	3	1	23	1	0	0	0	0	1	0	0	0	8428	1058	37	1	1431	1	KNTC1	12	123042027	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	224447	123042027	10809868	3179	19635										
GPR109B	8843	hgsc.bcm.edu	37	chr12	123200937	123200937	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgccaccaccgtgaggaaTatgatgctgccctggcggtt	12	13	0	2	rs1696352	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:123200937T>G	ENST00000528880.2	-	1	502	c.348A>C	c.(346-348)atA>atC	p.I116I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CCGTGAGGAATATGATGCTGC	0.557													N|||	2322	0.463658	0.5008	0.4409	5008	,	,		18413	0.495		0.5726	False		,,,				2504	0.2853				p.I116I		Atlas-SNP	.											.	HCAR3	49	.	0			c.A348C						PASS	.	G		2232,2174	585.5+/-386.3	583,1066,554	72	72	72		348	1.3	1	12	dbSNP_89	72	4931,3669	526.8+/-381.0	1416,2099,785	no	coding-synonymous	HCAR3	NM_006018.2		1999,3165,1339	GG,GT,TT		42.6628,49.3418,44.9254		116/388	123200937	7163,5843	2203	4300	6503	SO:0001819	synonymous_variant	8843	exon1			GAGGAATATGATG	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.348A>C	12.37:g.123200937T>G		Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_006018	A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	CCDS53842.1																																																																																			T|0.468;G|0.532	0.532	strong		0.557	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		G	123200937	T	G	123200937	2	3	23	1	0	0	0	0	0	0	0	1	6626	1396	49	5		5	GPR109B	12	123200937	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	158910	123200937	10650958	3180	19636										
SCARB1	949	hgsc.bcm.edu	37	chr12	125302137	125302137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccgcacctgcggcttctcGcccttcaggatctcgctggg	11	17	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:125302137G>A	ENST00000415380.2	-	2	368	c.243C>T	c.(241-243)ggC>ggT	p.G81G	SCARB1_ENST00000261693.6_Silent_p.G81G|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Silent_p.G81G|SCARB1_ENST00000339570.5_Silent_p.G81G|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.G27G|SCARB1_ENST00000540495.1_Silent_p.G44G|SCARB1_ENST00000541205.1_Silent_p.G40G			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	81					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCGGCTTCTCGCCCTTCAGGA	0.622																																					p.G81G		Atlas-SNP	.											SCARB1,colon,carcinoma,0,1	SCARB1	40	1	0			c.C243T						scavenged	.						62	64	63					12																	125302137		2203	4300	6503	SO:0001819	synonymous_variant	949	exon2			CTTCTCGCCCTTC	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.243C>T	12.37:g.125302137G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	114	3	0.0263158	NM_005505	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37																																																																																				.	.	none		0.622	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		A	125302137	G	A	125302137	2	1	23	1	0	0	0	0	0	0	0	1	13881	1074	38	1		1	SCARB1	12	125302137	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2101200	125302137	8549758	3181	19637										
DHX37	57647	hgsc.bcm.edu	37	chr12	125434716	125434716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcccttccagcaggaaccgGgcaaagtgcttgtagcggtc	13	12	0	0	rs4078216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:125434716G>A	ENST00000308736.2	-	24	3293	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	DHX37_ENST00000544745.1_Silent_p.A852A	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1065							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCAGGAACCGGGCAAAGTGCT	0.647													G|||	1296	0.258786	0.0537	0.268	5008	,	,		18264	0.5605		0.2197	False		,,,				2504	0.2587				p.A1065A		Atlas-SNP	.											DHX37,NS,carcinoma,0,1	DHX37	114	1	0			c.C3195T						PASS	.	G		346,4060	180.8+/-209.0	14,318,1871	61	59	59		3195	0	0.7	12	dbSNP_108	59	2001,6599	347.5+/-326.6	232,1537,2531	no	coding-synonymous	DHX37	NM_032656.3		246,1855,4402	AA,AG,GG		23.2674,7.8529,18.0455		1065/1158	125434716	2347,10659	2203	4300	6503	SO:0001819	synonymous_variant	57647	exon24			GAACCGGGCAAAG	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3195C>T	12.37:g.125434716G>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	123	121	0.98374	NM_032656	Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	CCDS9261.1																																																																																			G|0.776;N|0.000	.	strong		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		A	125434716	G	A	125434716	2	1	23	1	0	0	0	0	0	0	0	1	4510	1219	43	2		2	DHX37	12	125434716	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	132579	125434716	8417179	3182	19638										
DHX37	57647	hgsc.bcm.edu	37	chr12	125448960	125448960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtagcagtggccgggctcCgtccgtcctgctctgcccgc	13	17	1	0	rs4076777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:125448960C>T	ENST00000308736.2	-	15	2123	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	DHX37_ENST00000544745.1_Silent_p.T462T	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	675	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGCCGGGCTCCGTCCGTCCTG	0.632													T|||	1829	0.365216	0.2088	0.3386	5008	,	,		17000	0.6448		0.33	False		,,,				2504	0.3436				p.T675T		Atlas-SNP	.											.	DHX37	114	.	0			c.G2025A						PASS	.	T		946,3460	735.6+/-410.7	90,766,1347	69	68	68		2025	-3.7	0.8	12	dbSNP_108	68	2828,5772	675.3+/-403.2	461,1906,1933	no	coding-synonymous	DHX37	NM_032656.3		551,2672,3280	TT,TC,CC		32.8837,21.4707,29.0174		675/1158	125448960	3774,9232	2203	4300	6503	SO:0001819	synonymous_variant	57647	exon15			GGGCTCCGTCCGT	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2025G>A	12.37:g.125448960C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	54	53	0.981481	NM_032656	Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	CCDS9261.1	888	0.4065934065934066	111	0.22560975609756098	134	0.3701657458563536	391	0.6835664335664335	252	0.3324538258575198	T	11.92	1.782963	0.31502	0.214707	0.328837	ENSG00000150990	ENST00000543962	.	.	.	5.17	-3.66	0.04489	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999813	.	.	.	.	.	.	T	0.37820	-0.9689	4	0.87932	D	0	-36.7754	2.5483	0.04742	0.1757:0.3673:0.0949:0.3621	rs4076777;rs4316603;rs11558557	.	.	.	Q	127	.	ENSP00000443661:R127Q	R	-	2	0	DHX37	124014913	0.000000	0.05858	0.809000	0.32408	0.837000	0.47467	-2.742000	0.00798	-1.499000	0.01821	-0.521000	0.04368	CGG	C|0.671;T|0.329	0.329	strong		0.632	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		T	125448960	C	T	125448960	2	4	23	1	0	0	0	0	0	0	0	1	4510	639	23	1		1	DHX37	12	125448960	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14244	125448960	8402935	3183	19639										
DHX37	57647	hgsc.bcm.edu	37	chr12	125453115	125453115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggatcttgcagaccttcCggaagcactcgccactgtag	12	12	1	1	rs11057939	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:125453115C>T	ENST00000308736.2	-	10	1471	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R245Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	458			R -> Q (in dbSNP:rs11057939).				ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCAGACCTTCCGGAAGCACTC	0.602													C|||	269	0.0537141	0.0076	0.0994	5008	,	,		18822	0.0		0.1581	False		,,,				2504	0.0317				p.R458Q		Atlas-SNP	.											.	DHX37	114	.	0			c.G1373A						PASS	.	C	GLN/ARG	117,4289	89.2+/-127.9	1,115,2087	131	133	132		1373	4.6	1	12	dbSNP_120	132	1353,7247	265.6+/-286.2	108,1137,3055	yes	missense	DHX37	NM_032656.3	43	109,1252,5142	TT,TC,CC		15.7326,2.6555,11.3025	possibly-damaging	458/1158	125453115	1470,11536	2203	4300	6503	SO:0001583	missense	57647	exon10			ACCTTCCGGAAGC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1373G>A	12.37:g.125453115C>T	ENSP00000311135:p.Arg458Gln	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	46	15	0.326087	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	178	0.0815018315018315	7	0.014227642276422764	48	0.13259668508287292	0	0.0	123	0.16226912928759896	C	18.17	3.565362	0.65651	0.026555	0.157326	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.13538	2.58;2.58	4.6	4.6	0.57074	.	0.122536	0.53938	D	0.000043	T	0.00039	0.0001	L	0.54908	1.71	0.19775	P	0.9999506386	P	0.42941	0.794	B	0.32864	0.154	T	0.27571	-1.0070	9	0.52906	T	0.07	-5.5669	17.3773	0.87396	0.0:1.0:0.0:0.0	rs11057939;rs52834302;rs11057939	458	Q8IY37	DHX37_HUMAN	Q	458;245	ENSP00000311135:R458Q;ENSP00000439009:R245Q	ENSP00000311135:R458Q	R	-	2	0	DHX37	124019068	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.311000	0.59147	2.263000	0.75096	0.561000	0.74099	CGG	C|0.906;T|0.094	0.094	strong		0.602	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		T	125453115	C	T	125453115	3	4	23	1	0	0	0	0	1	0	0	0	4510	652	23	1	2172	1	DHX37	12	125453115	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4155	125453115	8398780	3184	19640										
TMEM132B	114795	hgsc.bcm.edu	37	chr12	125900095	125900095	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaattaaggcggcagcaggTgtgaagataacggcagtgag	16	5	0	4	rs3809261	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:125900095T>A	ENST00000299308.3	+	3	971	c.963T>A	c.(961-963)ggT>ggA	p.G321G		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	321						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGCAGCAGGTGTGAAGATAA	0.463													T|||	504	0.100639	0.0666	0.0677	5008	,	,		18057	0.1419		0.0994	False		,,,				2504	0.1288				p.G321G		Atlas-SNP	.											.	TMEM132B	207	.	0			c.T963A						PASS	.	T		236,4070		6,224,1923	79	92	88		963	-7.4	0.6	12	dbSNP_107	88	732,7782		34,664,3559	no	coding-synonymous	TMEM132B	NM_052907.2		40,888,5482	AA,AT,TT		8.5976,5.4807,7.5507		321/1079	125900095	968,11852	2153	4257	6410	SO:0001819	synonymous_variant	114795	exon3			AGCAGGTGTGAAG	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.963T>A	12.37:g.125900095T>A		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	113	111	0.982301	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																			T|0.901;A|0.099	0.099	strong		0.463	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		A	125900095	T	A	125900095	2	1	23	1	0	0	0	0	0	0	0	1	16043	1683	59	5		5	TMEM132B	12	125900095	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	446980	125900095	7951800	3185	19641										
TMEM132B	114795	hgsc.bcm.edu	37	chr12	126137060	126137060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgaccgagtcaccatcgCggagctgggagtgcagctcg	16	11	1	1	rs61021440	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:126137060C>T	ENST00000299308.3	+	8	1981	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A170V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658			A -> V (in dbSNP:rs16919359). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACCATCGCGGAGCTGGGA	0.587													C|||	1715	0.342452	0.5008	0.451	5008	,	,		21676	0.2768		0.2505	False		,,,				2504	0.2137				p.A658V		Atlas-SNP	.											TMEM132B,NS,carcinoma,-1,1	TMEM132B	207	1	0			c.C1973T						PASS	.						47	51	50					12																	126137060		2106	4242	6348	SO:0001583	missense	114795	exon8			CCATCGCGGAGCT	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1973C>T	12.37:g.126137060C>T	ENSP00000299308:p.Ala658Val	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	263	112	0.425856	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	613	0.2806776556776557	182	0.3699186991869919	135	0.3729281767955801	121	0.21153846153846154	175	0.23087071240105542	C	12.01	1.810105	0.32053	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.46063	0.88;0.88	5.53	4.64	0.57946	.	0.589970	0.16854	N	0.196801	T	0.00012	0.0000	N	0.12746	0.255	0.39908	P	0.02601500000000001	B	0.09022	0.002	B	0.06405	0.002	T	0.38134	-0.9675	9	0.40728	T	0.16	.	10.7695	0.46314	0.0:0.8542:0.0:0.1458	rs61021440;rs61748700	658	Q14DG7	T132B_HUMAN	V	658;170	ENSP00000299308:A658V;ENSP00000440436:A170V	ENSP00000299308:A658V	A	+	2	0	TMEM132B	124703013	0.003000	0.15002	0.256000	0.24389	0.132000	0.20833	1.919000	0.40015	1.317000	0.45149	0.655000	0.94253	GCG	C|0.759;T|0.241	0.241	strong		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126137060	C	T	126137060	3	4	23	1	0	0	0	0	1	0	0	0	16043	768	27	1	2003	1	TMEM132B	12	126137060	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	236965	126137060	7714835	3186	19642										
SLC15A4	121260	hgsc.bcm.edu	37	chr12	129293346	129293346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttacctgcagcaaaggcCgagcacatgacaaagaacat	8	12	1	2	rs11059924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:129293346C>T	ENST00000266771.5	-	5	1284	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	SLC15A4_ENST00000544112.1_Silent_p.S78S|SLC15A4_ENST00000539703.1_5'Flank	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	415					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAGCAAAGGCCGAGCACATGA	0.552													C|||	2339	0.467053	0.4425	0.3588	5008	,	,		20756	0.5893		0.4414	False		,,,				2504	0.4775				p.S415S		Atlas-SNP	.											.	SLC15A4	41	.	0			c.G1245A						PASS	.	C		1864,2542	538.8+/-375.1	401,1062,740	100	79	86		1245	-11	0	12	dbSNP_120	86	4035,4565	556.5+/-386.9	942,2151,1207	no	coding-synonymous	SLC15A4	NM_145648.3		1343,3213,1947	TT,TC,CC		46.9186,42.3059,45.356		415/578	129293346	5899,7107	2203	4300	6503	SO:0001819	synonymous_variant	121260	exon5			AAAGGCCGAGCAC	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1245G>A	12.37:g.129293346C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	89	33	0.370787	NM_145648	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Silent	SNP	ENST00000266771.5	37	CCDS9264.1																																																																																			C|0.525;T|0.475	0.475	strong		0.552	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		T	129293346	C	T	129293346	2	4	23	1	0	0	0	0	0	0	0	1	14401	639	23	1		1	SLC15A4	12	129293346	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3156286	129293346	4558549	3187	19643										
TMEM132D	121256	hgsc.bcm.edu	37	chr12	129559421	129559421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aataaccatttccaccttgaCcagggtgccttgtccttctg	7	13	1	1	rs73159540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:129559421C>T	ENST00000422113.2	-	9	2625	c.2299G>A	c.(2299-2301)Gtc>Atc	p.V767I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V305I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	767					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCACCTTGACCAGGGTGCCT	0.463													C|||	414	0.0826677	0.0045	0.0778	5008	,	,		21102	0.1161		0.1173	False		,,,				2504	0.1217				p.V767I		Atlas-SNP	.											.	TMEM132D	299	.	0			c.G2299A						PASS	.	C	ILE/VAL	88,4318	75.7+/-113.9	1,86,2116	146	128	134		2299	4.2	1	12	dbSNP_130	134	927,7673	204.9+/-247.5	54,819,3427	yes	missense	TMEM132D	NM_133448.2	29	55,905,5543	TT,TC,CC		10.7791,1.9973,7.8041	possibly-damaging	767/1100	129559421	1015,11991	2203	4300	6503	SO:0001583	missense	121256	exon9			CCTTGACCAGGGT	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2299G>A	12.37:g.129559421C>T	ENSP00000408581:p.Val767Ile	Somatic	214	1	0.0046729		WXS	Illumina HiSeq	Phase_I	192	99	0.515625	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	195	0.08928571428571429	4	0.008130081300813009	33	0.09116022099447514	64	0.11188811188811189	94	0.12401055408970976	C	9.353	1.066018	0.20067	0.019973	0.107791	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14022	2.54;2.54	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000004	T	0.00241	0.0007	N	0.17345	0.48	0.18873	P	0.999981947	B;P	0.50528	0.211;0.936	B;P	0.56398	0.066;0.797	T	0.37126	-0.9719	8	.	.	.	-31.7501	16.8845	0.86072	0.0:1.0:0.0:0.0	.	767;305	Q14C87;Q14C87-2	T132D_HUMAN;.	I	305;767	ENSP00000374092:V305I;ENSP00000408581:V767I	.	V	-	1	0	TMEM132D	128125374	1.000000	0.71417	0.953000	0.39169	0.326000	0.28443	2.480000	0.45206	2.033000	0.60031	0.462000	0.41574	GTC	C|0.919;T|0.081	0.081	strong		0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129559421	C	T	129559421	3	4	23	1	0	0	0	0	1	0	0	0	16044	507	18	2	1004	2	TMEM132D	12	129559421	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	266075	129559421	4292474	3188	19644										
TMEM132D	121256	hgsc.bcm.edu	37	chr12	129566469	129566469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcccccagggccggccgcCtcagccacaaactgcgtcag	11	18	2	0	rs77363876	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:129566469C>T	ENST00000422113.2	-	7	2084	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	TMEM132D_ENST00000389441.4_Silent_p.E124E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	586					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCCGGCCGCCTCAGCCACAA	0.647													C|||	372	0.0742812	0.0038	0.2046	5008	,	,		14998	0.1548		0.0209	False		,,,				2504	0.0491				p.E586E		Atlas-SNP	.											TMEM132D,NS,carcinoma,-2,1	TMEM132D	299	1	0			c.G1758A						scavenged	.	C		23,4383	27.2+/-55.0	0,23,2180	39	42	41		1758	0.8	0.3	12	dbSNP_131	41	131,8467	64.2+/-126.4	1,129,4169	no	coding-synonymous	TMEM132D	NM_133448.2		1,152,6349	TT,TC,CC		1.5236,0.522,1.1843		586/1100	129566469	154,12850	2203	4299	6502	SO:0001819	synonymous_variant	121256	exon7			GGCCGCCTCAGCC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1758G>A	12.37:g.129566469C>T		Somatic	221	2	0.00904977		WXS	Illumina HiSeq	Phase_I	195	108	0.553846	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																			C|0.970;T|0.030	0.030	strong		0.647	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129566469	C	T	129566469	2	4	23	1	0	0	0	0	0	0	0	1	16044	680	24	2		2	TMEM132D	12	129566469	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7048	129566469	4285426	3189	19645										
GPR133	283383	hgsc.bcm.edu	37	chr12	131620650	131620650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggtctttggcgtgcttgCtgtcaacggttgtgctgtgg	17	7	2	0	rs61746588	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:131620650C>T	ENST00000261654.5	+	22	2895	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.A465V|GPR133_ENST00000535015.1_Missense_Mutation_p.A811V|GPR133_ENST00000543617.1_Missense_Mutation_p.A298V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	779					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGCGTGCTTGCTGTCAACGGT	0.622													C|||	11	0.00219649	0.0	0.0086	5008	,	,		20891	0.0		0.003	False		,,,				2504	0.002				p.A779V		Atlas-SNP	.											.	GPR133	136	.	0			c.C2336T						PASS	.	C	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	288	182	218		2336	3.7	0	12	dbSNP_129	218	49,8551	31.7+/-84.0	0,49,4251	yes	missense	GPR133	NM_198827.3	64	0,56,6447	TT,TC,CC		0.5698,0.1589,0.4306	probably-damaging	779/875	131620650	56,12950	2203	4300	6503	SO:0001583	missense	283383	exon22			TGCTTGCTGTCAA	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2336C>T	12.37:g.131620650C>T	ENSP00000261654:p.Ala779Val	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	197	82	0.416244	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	6	0.0027472527472527475	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	12.69	2.013191	0.35511	0.001589	0.005698	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.42900	1.32;1.31;0.96;0.96	4.6	3.71	0.42584	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.63428	1.95	0.58432	D	0.999998	P;P;B	0.42123	0.586;0.771;0.333	P;B;B	0.48089	0.566;0.444;0.348	T	0.18713	-1.0328	10	0.17369	T	0.5	.	10.3596	0.43984	0.0:0.902:0.0:0.098	rs61746588	811;132;779	B7ZLF7;Q9NSM3;Q6QNK2	.;.;GP133_HUMAN	V	779;811;465;298	ENSP00000261654:A779V;ENSP00000444425:A811V;ENSP00000365872:A465V;ENSP00000438021:A298V	ENSP00000261654:A779V	A	+	2	0	GPR133	130186603	1.000000	0.71417	0.036000	0.18154	0.315000	0.28087	4.744000	0.62118	0.913000	0.36797	0.491000	0.48974	GCT	C|0.997;T|0.003	0.003	strong		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131620650	C	T	131620650	3	4	23	1	0	0	0	0	1	0	0	0	6643	797	28	2	2422	2	GPR133	12	131620650	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2054181	131620650	2231245	3190	19646										
MMP17	4326	hgsc.bcm.edu	37	chr12	132325239	132325239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacgaggtggcgggcagcGccgccgacatccagatcgac	14	15	0	1	rs6598163	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:132325239G>A	ENST00000360564.1	+	4	646	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	MMP17_ENST00000535291.1_Missense_Mutation_p.A98T	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	182				A -> T (in Ref. 1; BAA82707 and 2; CAA61753). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GGCGGGCAGCGCCGCCGACAT	0.667													g|||	2272	0.453674	0.4516	0.4424	5008	,	,		17858	0.5238		0.4583	False		,,,				2504	0.3875				p.A182T		Atlas-SNP	.											MMP17_ENST00000360564,NS,carcinoma,-2,1	MMP17	77	1	0			c.G544A						scavenged	.	A	THR/ALA	1919,2487	538.4+/-375.0	410,1099,694	90	78	82		544	-5.1	0	12	dbSNP_116	82	4217,4381	560.4+/-387.6	1047,2123,1129	yes	missense	MMP17	NM_016155.4	58	1457,3222,1823	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	49.0463,43.5542,47.1855	benign	182/604	132325239	6136,6868	2203	4299	6502	SO:0001583	missense	4326	exon4			GGCAGCGCCGCCG	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.544G>A	12.37:g.132325239G>A	ENSP00000353767:p.Ala182Thr	Somatic	30	1	0.0333333		WXS	Illumina HiSeq	Phase_I	16	16	1	NM_016155	Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	CCDS31927.1	1011	0.46291208791208793	214	0.4349593495934959	163	0.45027624309392267	277	0.48426573426573427	357	0.470976253298153	G	10.01	1.233697	0.22626	0.435542	0.490463	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000545790;ENST00000535291;ENST00000534865	T;T;T;T;T	0.20598	2.06;2.06;2.6;2.06;2.06	4.65	-5.13	0.02884	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.747497	0.12148	N	0.495209	T	0.00012	0.0000	N	0.05259	-0.085	0.80722	P	0.0	B	0.21071	0.051	B	0.18561	0.022	T	0.48364	-0.9042	9	0.54805	T	0.06	.	8.9946	0.36043	0.7137:0.0:0.1641:0.1223	rs6598163;rs17857232;rs59328534;rs6598163	182	Q9ULZ9	MMP17_HUMAN	T	182;78;98;98;23	ENSP00000353767:A182T;ENSP00000444603:A78T;ENSP00000441710:A98T;ENSP00000441106:A98T;ENSP00000442104:A23T	ENSP00000353767:A182T	A	+	1	0	MMP17	130891192	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.298000	0.08265	-0.983000	0.03511	-0.320000	0.08662	GCC	A|0.462;G|0.537;T|0.000	0.462	strong		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		A	132325239	G	A	132325239	3	1	23	1	0	0	0	0	1	0	0	0	9656	1087	38	1	558	1	MMP17	12	132325239	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	704589	132325239	1526656	3191	19647										
EP400	57634	hgsc.bcm.edu	37	chr12	132561987	132561987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcacgcaggcgacggcggcCgggcagcaggtgcagatgat	17	12	1	2	rs12311898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:132561987C>T	ENST00000333577.4	+	54	9358	c.9249C>T	c.(9247-9249)gcC>gcT	p.A3083A	EP400_ENST00000389562.2_Silent_p.A3046A|EP400_ENST00000332482.4_Silent_p.A3010A|EP400_ENST00000330386.6_Silent_p.A2966A|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000389561.2_Silent_p.A3047A			Q96L91	EP400_HUMAN	E1A binding protein p400	3083					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACGGCGGCCGGGCAGCAGG	0.627													C|||	437	0.0872604	0.1483	0.0389	5008	,	,		17142	0.0923		0.0596	False		,,,				2504	0.0624				p.A3047A		Atlas-SNP	.											.	EP400	370	.	0			c.C9141T						PASS	.	C		508,3874		31,446,1714	41	45	44		9141	-11.2	0	12	dbSNP_120	44	381,8191		15,351,3920	no	coding-synonymous	EP400	NM_015409.4		46,797,5634	TT,TC,CC		4.4447,11.5929,6.8627		3047/3124	132561987	889,12065	2191	4286	6477	SO:0001819	synonymous_variant	57634	exon53			GGCGGCCGGGCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9249C>T	12.37:g.132561987C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	165	74	0.448485	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				C|0.932;T|0.068	0.068	strong		0.627	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132561987	C	T	132561987	2	4	23	1	0	0	0	0	0	0	0	1	5149	639	23	1		1	EP400	12	132561987	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	236748	132561987	1289908	3192	19648										
DDX51	317781	hgsc.bcm.edu	37	chr12	132626668	132626668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctagggtccacatacctgcTgggccagctccttggtgggc	13	13	1	0	rs17418886|rs1133690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:132626668T>C	ENST00000397333.3	-	5	922	c.884A>G	c.(883-885)cAg>cGg	p.Q295R	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	295	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		Q -> R (in dbSNP:rs1133690). {ECO:0000269|PubMed:15489334}.		rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ACATACCTGCTGGGCCAGCTC	0.652													T|||	2716	0.542332	0.1989	0.6772	5008	,	,		18589	0.753		0.6958	False		,,,				2504	0.5358				p.Q295R		Atlas-SNP	.											.	DDX51	33	.	0			c.A884G						PASS	.	T	ARG/GLN	1293,2889		224,845,1022	54	64	61		884	4.7	1	12	dbSNP_86	61	5775,2653		2010,1755,449	yes	missense	DDX51	NM_175066.3	43	2234,2600,1471	CC,CT,TT		31.4784,30.9182,43.9492	possibly-damaging	295/667	132626668	7068,5542	2091	4214	6305	SO:0001583	missense	317781	exon5			ACCTGCTGGGCCA	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.884A>G	12.37:g.132626668T>C	ENSP00000380495:p.Gln295Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	90	41	0.455556	NM_175066	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	1330	0.6089743589743589	119	0.241869918699187	247	0.6823204419889503	438	0.7657342657342657	526	0.6939313984168866	T	23.7	4.453070	0.84209	0.309182	0.685216	ENSG00000185163	ENST00000397333	T	0.15256	2.44	4.71	4.71	0.59529	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.27944	0.81	0.09310	P	0.99999826229	P	0.48230	0.907	P	0.55965	0.788	T	0.00475	-1.1717	9	0.54805	T	0.06	-25.2818	12.1532	0.54062	0.0:0.0:0.0:1.0	rs1133690;rs3195639;rs7958174;rs11556856;rs17846277;rs17859299;rs61243103;rs1133690	295	Q8N8A6	DDX51_HUMAN	R	295	ENSP00000380495:Q295R	ENSP00000380495:Q295R	Q	-	2	0	DDX51	131192621	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.419000	0.66435	1.756000	0.51951	0.402000	0.26972	CAG	T|0.404;C|0.596	0.596	strong		0.652	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		C	132626668	T	C	132626668	3	2	23	1	0	0	0	0	1	0	0	0	4369	1580	55	3	1160	3	DDX51	12	132626668	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64681	132626668	1225227	3193	19649										
POLE	5426	hgsc.bcm.edu	37	chr12	133253180	133253180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ataatctggtctgtctcagcAtcaggaaacttgaggggcag	12	8	4	1	rs139075637	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:133253180A>T	ENST00000320574.5	-	9	904	c.861T>A	c.(859-861)gaT>gaA	p.D287E	POLE_ENST00000535270.1_Missense_Mutation_p.D260E	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	287					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTCTCAGCATCAGGAAACT	0.498								DNA polymerases (catalytic subunits)					A|||	2	0.000399361	0.0	0.0	5008	,	,		20902	0.0		0.002	False		,,,				2504	0.0				p.D287E		Atlas-SNP	.											.	POLE	416	.	0			c.T861A						PASS	.	A	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	115	99	105		861	1.9	1	12	dbSNP_134	105	11,8589	8.4+/-32.0	0,11,4289	yes	missense	POLE	NM_006231.2	45	0,12,6491	TT,TA,AA		0.1279,0.0227,0.0923	probably-damaging	287/2287	133253180	12,12994	2203	4300	6503	SO:0001583	missense	5426	exon9			CTCAGCATCAGGA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.861T>A	12.37:g.133253180A>T	ENSP00000322570:p.Asp287Glu	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	167	91	0.54491	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	A	22.2	4.257395	0.80246	2.27E-4	0.001279	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	3.07;3.07;3.07;0.82	5.49	1.9	0.25705	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.71206	2.165	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.62469	-0.6848	10	0.87932	D	0	.	8.9216	0.35615	0.718:0.0:0.282:0.0	.	260;287	F5H1D6;Q07864	.;DPOE1_HUMAN	E	287;298;260;67;222	ENSP00000322570:D287E;ENSP00000406383:D298E;ENSP00000445753:D260E;ENSP00000442519:D67E	ENSP00000322570:D287E	D	-	3	2	POLE	131763253	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.156000	0.31712	0.376000	0.24707	-0.441000	0.05720	GAT	A|0.999;T|0.001	0.001	strong		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133253180	A	T	133253180	3	4	23	1	0	0	0	0	1	0	0	0	12196	214	8	5	6163	5	POLE	12	133253180	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	626512	133253180	598715	3194	19650										
GOLGA3	2802	hgsc.bcm.edu	37	chr12	133357412	133357412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaggctgttcaccttctccTtctccttctctagtgaggcc	8	14	4	2	rs2291260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr12:133357412T>C	ENST00000450791.2	-	17	3737	c.3554A>G	c.(3553-3555)aAg>aGg	p.K1185R	GOLGA3_ENST00000456883.2_Missense_Mutation_p.K1185R|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K1185R			Q08378	GOGA3_HUMAN	golgin A3	1185			K -> R (in dbSNP:rs2291260).		intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K1185R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CACCTTCTCCTTCTCCTTCTC	0.557													T|||	1536	0.306709	0.3328	0.2493	5008	,	,		21709	0.2877		0.2187	False		,,,				2504	0.4223				p.K1185R		Atlas-SNP	.											GOLGA3,NS,carcinoma,0,1	GOLGA3	234	1	1	Substitution - Missense(1)	prostate(1)	c.A3554G						PASS	.	T	ARG/LYS	1452,2954	469.6+/-355.5	232,988,983	148	136	140		3554	5.6	0.2	12	dbSNP_100	140	2095,6505	361.9+/-332.5	266,1563,2471	yes	missense	GOLGA3	NM_005895.3	26	498,2551,3454	CC,CT,TT		24.3605,32.9551,27.272	probably-damaging	1185/1499	133357412	3547,9459	2203	4300	6503	SO:0001583	missense	2802	exon18			TTCTCCTTCTCCT	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3554A>G	12.37:g.133357412T>C	ENSP00000410378:p.Lys1185Arg	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	19	0.487179	NM_005895	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	588	0.2692307692307692	177	0.3597560975609756	95	0.26243093922651933	160	0.27972027972027974	156	0.20580474934036938	T	16.05	3.011940	0.54468	0.329551	0.243605	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32023	1.47;1.47;1.48	5.61	5.61	0.85477	.	0.042054	0.85682	D	0.000000	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	1.0	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.33954	-0.9848	9	0.36615	T	0.2	.	15.4487	0.75257	0.0:0.0:0.0:1.0	rs2291260;rs52837892;rs56863919;rs2291260	1185;1185	Q08378-2;Q08378	.;GOGA3_HUMAN	R	1185	ENSP00000204726:K1185R;ENSP00000410378:K1185R;ENSP00000409303:K1185R	ENSP00000204726:K1185R	K	-	2	0	GOLGA3	131867485	1.000000	0.71417	0.219000	0.23793	0.016000	0.09150	3.103000	0.50298	2.123000	0.65237	0.523000	0.50628	AAG	T|0.724;C|0.276	0.276	strong		0.557	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		C	133357412	T	C	133357412	3	2	23	1	0	0	0	0	1	0	0	0	6554	1609	56	3	970	3	GOLGA3	12	133357412	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	104232	133357412	494483	3195	19651										
MPHOSPH8	54737	hgsc.bcm.edu	37	chr13	20224387	20224387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagacagcgtgtgccaagcAgatgagaattcaggtgagtt	13	6	1	4	rs9578176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:20224387A>G	ENST00000361479.5	+	5	1631	c.1563A>G	c.(1561-1563)gcA>gcG	p.A521A	MPHOSPH8_ENST00000414242.2_Silent_p.A521A	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	521					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TGTGCCAAGCAGATGAGAATT	0.408													A|||	534	0.106629	0.1974	0.0735	5008	,	,		17874	0.0754		0.0974	False		,,,				2504	0.0491				p.A521A		Atlas-SNP	.											.	MPHOSPH8	58	.	0			c.A1563G						PASS	.	A		783,3623	313.3+/-293.0	75,633,1495	144	123	130		1563	-9.1	0	13	dbSNP_119	130	646,7954	165.4+/-217.5	18,610,3672	no	coding-synonymous	MPHOSPH8	NM_017520.3		93,1243,5167	GG,GA,AA		7.5116,17.7712,10.9872		521/861	20224387	1429,11577	2203	4300	6503	SO:0001819	synonymous_variant	54737	exon5			CCAAGCAGATGAG	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1563A>G	13.37:g.20224387A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Silent	SNP	ENST00000361479.5	37	CCDS9287.1																																																																																			A|0.886;G|0.114	0.114	strong		0.408	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		G	20224387	A	G	20224387	2	3	23	1	0	0	0	0	0	0	0	1	9727	175	7	3		3	MPHOSPH8	13	20224387	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10		20224387	94945491	3196	19652										
ZMYM5	9205	hgsc.bcm.edu	37	chr13	20413021	20413021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtaagttgttgttgggctgTaggctggaaattctgcttac	13	5	1	0	rs41292167	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:20413021T>C	ENST00000337963.4	-	5	955	c.691A>G	c.(691-693)Aca>Gca	p.T231A	ZMYM5_ENST00000382905.4_Missense_Mutation_p.T231A|RP11-61K9.2_ENST00000422148.2_RNA|ZMYM5_ENST00000382907.4_Intron	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	231			T -> A (in dbSNP:rs41292167).			nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGTTGGGCTGTAGGCTGGAAA	0.438													T|||	487	0.0972444	0.1687	0.0735	5008	,	,		18398	0.0813		0.0924	False		,,,				2504	0.0389				p.T231A		Atlas-SNP	.											.	ZMYM5	73	.	0			c.A691G						PASS	.	T	,ALA/THR,ALA/THR	702,3704	291.3+/-281.4	61,580,1562	204	203	203		,691,691	-0.3	0.2	13	dbSNP_127	203	591,8009	157.6+/-211.2	16,559,3725	yes	intron,missense,missense	ZMYM5	NM_001039649.2,NM_001039650.2,NM_001142684.1	,58,58	77,1139,5287	CC,CT,TT		6.8721,15.9328,9.9416	,benign,benign	,231/383,231/670	20413021	1293,11713	2203	4300	6503	SO:0001583	missense	9205	exon5			GGGCTGTAGGCTG	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.691A>G	13.37:g.20413021T>C	ENSP00000337034:p.Thr231Ala	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	232	96	0.413793	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		192	0.08791208791208792	70	0.14227642276422764	26	0.0718232044198895	35	0.06118881118881119	61	0.08047493403693931	T	12.66	2.004845	0.35415	0.159328	0.068721	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.41065	1.01;1.01;1.01	4.67	-0.334	0.12666	.	0.324108	0.34386	N	0.004013	T	0.00073	0.0002	N	0.22421	0.69	0.45791	P	0.0013290000000000246	B;B	0.20780	0.048;0.032	B;B	0.15870	0.013;0.014	T	0.07635	-1.0762	9	0.42905	T	0.14	-1.8158	4.8425	0.13498	0.4731:0.0:0.3778:0.1491	rs41292167;rs56860401	231;231	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	A	231;221;231	ENSP00000337034:T231A;ENSP00000445779:T221A;ENSP00000372361:T231A	ENSP00000337034:T231A	T	-	1	0	ZMYM5	19311021	1.000000	0.71417	0.159000	0.22649	0.918000	0.54935	0.848000	0.27710	0.073000	0.16731	-0.542000	0.04241	ACA	T|0.903;C|0.097	0.097	strong		0.438	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		C	20413021	T	C	20413021	3	2	23	1	0	0	0	0	1	0	0	0	17700	1638	57	2	1445	2	ZMYM5	13	20413021	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	188634	20413021	94756857	3197	19653										
ZMYM5	9205	hgsc.bcm.edu	37	chr13	20425948	20425948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctcctccatttgtttctaTgtcctcttcatcatcaataa	3	12	5	0	rs9579718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:20425948T>C	ENST00000337963.4	-	3	637	c.373A>G	c.(373-375)Ata>Gta	p.I125V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.I125V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.I125V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	125			I -> V (in dbSNP:rs9579718). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.			nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTTGTTTCTATGTCCTCTTCA	0.373													T|||	491	0.0980431	0.1717	0.0735	5008	,	,		19623	0.0813		0.0924	False		,,,				2504	0.0389				p.I125V		Atlas-SNP	.											.	ZMYM5	73	.	0			c.A373G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE	709,3697	287.8+/-279.5	63,583,1557	68	72	71		373,373,373	0.1	1	13	dbSNP_119	71	590,8010	156.0+/-209.9	15,560,3725	yes	missense,missense,missense	ZMYM5	NM_001039649.2,NM_001039650.2,NM_001142684.1	29,29,29	78,1143,5282	CC,CT,TT		6.8605,16.0917,9.9877	benign,benign,benign	125/209,125/383,125/670	20425948	1299,11707	2203	4300	6503	SO:0001583	missense	9205	exon3			TTTCTATGTCCTC	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.373A>G	13.37:g.20425948T>C	ENSP00000337034:p.Ile125Val	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	180	74	0.411111	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		193	0.08836996336996338	71	0.1443089430894309	26	0.0718232044198895	35	0.06118881118881119	61	0.08047493403693931	T	5.678	0.309723	0.10733	0.160917	0.068605	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.41	0.0975	0.14494	.	.	.	.	.	T	0.00073	0.0002	L	0.39898	1.24	0.50313	P	1.3799999999997148E-4	B;B;B	0.20671	0.005;0.047;0.017	B;B;B	0.17979	0.004;0.02;0.013	T	0.16188	-1.0411	8	0.41790	T	0.15	-0.003	4.8086	0.13331	0.4309:0.0784:0.0:0.4907	rs9579718;rs17850147;rs52817925;rs9579718	125;125;125	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	125;115;125;125	ENSP00000337034:I125V;ENSP00000445779:I115V;ENSP00000372364:I125V;ENSP00000372361:I125V	ENSP00000337034:I125V	I	-	1	0	ZMYM5	19323948	0.858000	0.29795	0.982000	0.44146	0.538000	0.34931	-0.078000	0.11375	-0.036000	0.13669	0.402000	0.26972	ATA	T|0.901;C|0.099	0.099	strong		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		C	20425948	T	C	20425948	3	2	23	1	0	0	0	0	1	0	0	0	17700	1464	51	2	1771	2	ZMYM5	13	20425948	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12927	20425948	94743930	3198	19654										
LATS2	26524	hgsc.bcm.edu	37	chr13	21562832	21562832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctggacggaggtgctgcCcaattcatacaggtccacgt	12	12	1	0	rs2770928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:21562832C>T	ENST00000382592.4	-	4	1492	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	LATS2_ENST00000542899.1_Missense_Mutation_p.G363S|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GAGGTGCTGCCCAATTCATAC	0.716													T|||	4258	0.85024	0.6876	0.9135	5008	,	,		9653	0.997		0.8767	False		,,,				2504	0.8466				p.G363S		Atlas-SNP	.											LATS2_ENST00000382592,NS,carcinoma,0,1	LATS2	176	1	0			c.G1087A						PASS	.	T	SER/GLY	3174,1152		1175,824,164	25	27	26		1087	-1.1	0	13	dbSNP_100	26	7379,969		3255,869,50	yes	missense	LATS2	NM_014572.2	56	4430,1693,214	TT,TC,CC		11.6076,26.6297,16.735	benign	363/1089	21562832	10553,2121	2163	4174	6337	SO:0001583	missense	26524	exon4			TGCTGCCCAATTC	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1087G>A	13.37:g.21562832C>T	ENSP00000372035:p.Gly363Ser	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	1898	0.8690476190476191	334	0.6788617886178862	330	0.9116022099447514	572	1.0	662	0.8733509234828496	T	4.469	0.087000	0.08583	0.733703	0.883924	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.57436	0.4;0.4	4.94	-1.07	0.09968	.	1.091720	0.06907	N	0.806929	T	0.00012	0.0000	L	0.42245	1.32	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.47315	-0.9127	9	0.02654	T	1	.	11.4202	0.49976	0.0:0.4735:0.0:0.5265	rs2770928;rs60641998	363	Q9NRM7	LATS2_HUMAN	S	363	ENSP00000372035:G363S;ENSP00000441817:G363S	ENSP00000372035:G363S	G	-	1	0	LATS2	20460832	0.893000	0.30496	0.000000	0.03702	0.051000	0.14879	0.768000	0.26590	-0.622000	0.05626	-1.487000	0.00979	GGC	T|0.842;G|0.000;C|0.158;A|0.000	0.842	strong		0.716	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21562832	C	T	21562832	3	4	23	1	0	0	0	0	1	0	0	0	8647	623	22	2	2199	2	LATS2	13	21562832	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1136884	21562832	93607046	3199	19655										
LATS2	26524	hgsc.bcm.edu	37	chr13	21562948	21562948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacatgcagctggtgggccGcgggaccggcctgcttgtgg	18	12	0	0	rs558614	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:21562948G>A	ENST00000382592.4	-	4	1376	c.971C>T	c.(970-972)gCg>gTg	p.A324V	LATS2_ENST00000542899.1_Missense_Mutation_p.A324V|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGGTGGGCCGCGGGACCGGC	0.726													G|||	3153	0.629593	0.5129	0.6888	5008	,	,		11971	0.5387		0.7972	False		,,,				2504	0.6667				p.A324V		Atlas-SNP	.											LATS2_ENST00000382592,NS,carcinoma,0,2	LATS2	176	2	0			c.C971T						PASS	.	G	VAL/ALA	2514,1854		739,1036,409	17	20	19		971	2.7	0	13	dbSNP_83	19	6953,1567		2835,1283,142	no	missense	LATS2	NM_014572.2	64	3574,2319,551	AA,AG,GG		18.392,42.4451,26.5441	benign	324/1089	21562948	9467,3421	2184	4260	6444	SO:0001583	missense	26524	exon4			TGGGCCGCGGGAC	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.971C>T	13.37:g.21562948G>A	ENSP00000372035:p.Ala324Val	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	21	18	0.857143	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	1424	0.652014652014652	248	0.5040650406504065	266	0.7348066298342542	315	0.5506993006993007	595	0.7849604221635884	G	6.803	0.517276	0.13005	0.575549	0.81608	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59083	0.29;0.29	3.57	2.72	0.32119	.	0.947577	0.08664	N	0.911940	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.28584	0.216	B	0.20184	0.028	T	0.37979	-0.9682	9	0.25751	T	0.34	.	12.1462	0.54024	0.0:0.2164:0.7836:0.0	rs558614;rs3742219;rs57107378;rs558614	324	Q9NRM7	LATS2_HUMAN	V	324	ENSP00000372035:A324V;ENSP00000441817:A324V	ENSP00000372035:A324V	A	-	2	0	LATS2	20460948	1.000000	0.71417	0.001000	0.08648	0.251000	0.25915	6.231000	0.72307	0.682000	0.31407	0.485000	0.47835	GCG	G|0.298;A|0.702	0.702	strong		0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			A	21562948	G	A	21562948	3	1	23	1	0	0	0	0	1	0	0	0	8647	1087	38	1	2315	1	LATS2	13	21562948	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	116	21562948	93606930	3200	19656										
ZDHHC20	253832	hgsc.bcm.edu	37	chr13	21976996	21976996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagctgacatttttcacaaTatctgatagctacatgaaag	6	8	3	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:21976996T>C	ENST00000400590.3	-	5	578	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.Y64C|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.Y127C|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.Y127C|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.Y127C			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	127					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTTCACAATATCTGATAGC	0.353																																					p.Y127C		Atlas-SNP	.											.	ZDHHC20	36	.	0			c.A380G						PASS	.						65	62	63					13																	21976996		1862	4106	5968	SO:0001583	missense	253832	exon5			TCACAATATCTGA	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.380A>G	13.37:g.21976996T>C	ENSP00000383433:p.Tyr127Cys	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	51	32	0.627451	NM_153251	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37		.	.	.	.	.	.	.	.	.	.	T	19.89	3.910520	0.72983	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	H	0.96489	3.83	0.80722	D	1	D;P	0.63046	0.992;0.812	P;D	0.63381	0.908;0.914	T	0.76348	-0.2992	10	0.87932	D	0	-33.8396	15.3153	0.74069	0.0:0.0:0.0:1.0	.	64;127	B4DRN8;Q5W0Z9-3	.;.	C	127;127;127;64;127	ENSP00000383433:Y127C;ENSP00000313583:Y127C;ENSP00000371905:Y127C;ENSP00000443236:Y64C;ENSP00000401232:Y127C	ENSP00000313583:Y127C	Y	-	2	0	ZDHHC20	20874996	1.000000	0.71417	0.973000	0.42090	0.820000	0.46376	4.578000	0.60929	2.069000	0.61940	0.533000	0.62120	TAT	.	.	none		0.353	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		C	21976996	T	C	21976996	3	2	23	1	0	0	0	0	1	0	0	0	17608	1406	49	2	716	2	ZDHHC20	13	21976996	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	414048	21976996	93192882	3201	19657										
SACS	26278	hgsc.bcm.edu	37	chr13	23904298	23904298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactttttgttgcataaaatTttcaagttttattatgatac	4	5	1	1	rs34382952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:23904298T>G	ENST00000382292.3	-	9	13990	c.13717A>C	c.(13717-13719)Aat>Cat	p.N4573H	SACS_ENST00000402364.1_Missense_Mutation_p.N3823H|SACS_ENST00000382298.3_Missense_Mutation_p.N4573H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4573					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCATAAAATTTTCAAGTTTT	0.348													T|||	15	0.00299521	0.0008	0.0058	5008	,	,		9531	0.0		0.0099	False		,,,				2504	0.0				p.N4573H		Atlas-SNP	.											.	SACS	871	.	0			c.A13717C						PASS	.	T	HIS/ASN	5,4401	9.9+/-24.2	0,5,2198	66	67	67		13717	5.8	1	13	dbSNP_126	67	40,8560	26.3+/-74.7	0,40,4260	yes	missense	SACS	NM_014363.4	68	0,45,6458	GG,GT,TT		0.4651,0.1135,0.346	possibly-damaging	4573/4580	23904298	45,12961	2203	4300	6503	SO:0001583	missense	26278	exon10			TAAAATTTTCAAG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13717A>C	13.37:g.23904298T>G	ENSP00000371729:p.Asn4573His	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	124	50	0.403226	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	T	18.35	3.603679	0.66445	0.001135	0.004651	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86366	-2.11;-2.11;-2.11	5.85	5.85	0.93711	.	0.089079	0.85682	D	0.000000	T	0.79627	0.4478	N	0.03608	-0.345	0.35519	D	0.801247	D	0.56521	0.976	P	0.59595	0.86	D	0.88793	0.3279	10	0.59425	D	0.04	.	16.2271	0.82306	0.0:0.0:0.0:1.0	rs34382952	4573	Q9NZJ4	SACS_HUMAN	H	4573;3823;4573	ENSP00000371729:N4573H;ENSP00000385844:N3823H;ENSP00000371735:N4573H	ENSP00000371729:N4573H	N	-	1	0	SACS	22802298	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.258000	0.72487	2.234000	0.73211	0.460000	0.39030	AAT	T|0.997;G|0.003	0.003	strong		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23904298	T	G	23904298	3	3	23	1	0	0	0	0	1	0	0	0	13804	1841	64	5	26	5	SACS	13	23904298	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1927302	23904298	91265580	3202	19658										
SACS	26278	hgsc.bcm.edu	37	chr13	23908034	23908034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcaagctgaatacagccAgctttcattagagcatgaaa	8	8	1	3	rs2737700	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:23908034A>G	ENST00000382292.3	-	9	10254	c.9981T>C	c.(9979-9981)gcT>gcC	p.A3327A	SACS_ENST00000402364.1_Silent_p.A2577A|SACS_ENST00000382298.3_Silent_p.A3327A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3327					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATACAGCCAGCTTTCATTA	0.418													A|||	1696	0.338658	0.1233	0.3991	5008	,	,		20613	0.4127		0.4394	False		,,,				2504	0.407				p.A3327A		Atlas-SNP	.											.	SACS	871	.	0			c.T9981C						PASS	.	A		766,3640	302.7+/-287.5	83,600,1520	70	68	69		9981	-0.6	1	13	dbSNP_100	69	3787,4809	532.3+/-382.2	828,2131,1339	no	coding-synonymous	SACS	NM_014363.4		911,2731,2859	GG,GA,AA		44.0554,17.3854,35.0177		3327/4580	23908034	4553,8449	2203	4298	6501	SO:0001819	synonymous_variant	26278	exon10			ACAGCCAGCTTTC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9981T>C	13.37:g.23908034A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			A|0.664;G|0.336	0.336	strong		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23908034	A	G	23908034	2	3	23	1	0	0	0	0	0	0	0	1	13804	175	7	3		3	SACS	13	23908034	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3736	23908034	91261844	3203	19659										
TNFRSF19	55504	hgsc.bcm.edu	37	chr13	24243204	24243204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagatcaggagagtggtgctGtcatccacccagccactcag	11	12	3	2	rs3751362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:24243204G>A	ENST00000382258.4	+	9	1417	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.V273I|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.V405I|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.V405I	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	405			V -> I (in dbSNP:rs3751362). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.V405I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GAGTGGTGCTGTCATCCACCC	0.488													G|||	803	0.160343	0.1899	0.2032	5008	,	,		15005	0.2262		0.0646	False		,,,				2504	0.1207				p.V405I		Atlas-SNP	.											TNFRSF19,NS,carcinoma,0,1	TNFRSF19	52	1	1	Substitution - Missense(1)	stomach(1)	c.G1213A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	776,3630	313.0+/-292.9	57,662,1484	53	49	50		1213,817,1213,1213	-8.4	0	13	dbSNP_107	50	767,7833	182.6+/-231.0	32,703,3565	yes	missense,missense,missense,missense	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	29,29,29,29	89,1365,5049	AA,AG,GG		8.9186,17.6123,11.8638	benign,benign,benign,benign	405/418,273/286,405/424,405/418	24243204	1543,11463	2203	4300	6503	SO:0001583	missense	55504	exon9			GGTGCTGTCATCC	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1213G>A	13.37:g.24243204G>A	ENSP00000371693:p.Val405Ile	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_018647	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	CCDS9302.1	319	0.14606227106227107	82	0.16666666666666666	61	0.1685082872928177	136	0.23776223776223776	40	0.052770448548812667	G	8.461	0.855398	0.17106	0.176123	0.089186	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.77489	-1.1;1.48;-1.1;-1.1	5.71	-8.41	0.00961	.	2.679170	0.01088	N	0.005136	T	0.00039	0.0001	N	0.04508	-0.205	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.05468	-1.0883	9	0.18276	T	0.48	2.0E-4	13.5002	0.61449	0.1673:0.109:0.7238:0.0	rs3751362;rs3751362	273;405;405	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	I	405;273;405;405	ENSP00000248484:V405I;ENSP00000385408:V273I;ENSP00000371693:V405I;ENSP00000371698:V405I	ENSP00000248484:V405I	V	+	1	0	TNFRSF19	23141204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.574000	0.05868	-1.806000	0.01237	-0.136000	0.14681	GTC	G|0.874;A|0.126	0.126	strong		0.488	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		A	24243204	G	A	24243204	3	1	23	1	0	0	0	0	1	0	0	0	16289	1377	48	2	1243	2	TNFRSF19	13	24243204	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	335170	24243204	90926674	3204	19660										
SPATA13	221178	hgsc.bcm.edu	37	chr13	24868919	24868919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatatgaggccatgaagaaTgtggcctgtctgatcaacga	12	8	2	4	rs35793500	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:24868919T>C	ENST00000382095.4	+	9	1655	c.1248T>C	c.(1246-1248)aaT>aaC	p.N416N	SPATA13_ENST00000382108.3_Silent_p.N1041N|SPATA13_ENST00000424834.2_Silent_p.N1041N|SPATA13_ENST00000343003.6_Silent_p.N360N|RP11-307N16.6_ENST00000382141.4_Silent_p.N919N|SPATA13_ENST00000399949.2_Silent_p.N338N|SPATA13_ENST00000409126.1_Silent_p.N276N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	416	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCATGAAGAATGTGGCCTGTC	0.488													T|||	145	0.0289537	0.0416	0.0548	5008	,	,		19603	0.001		0.0427	False		,,,				2504	0.0082				p.N1041N		Atlas-SNP	.											.	SPATA13	92	.	0			c.T3123C						PASS	.	T	,	138,4268	98.0+/-136.7	3,132,2068	142	119	127		3123,1248	-8.1	0.8	13	dbSNP_126	127	353,8247	119.5+/-178.9	5,343,3952	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	8,475,6020	CC,CT,TT		4.1047,3.1321,3.7752	,	1041/1278,416/653	24868919	491,12515	2203	4300	6503	SO:0001819	synonymous_variant	221178	exon10			GAAGAATGTGGCC	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1248T>C	13.37:g.24868919T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	108	43	0.398148	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	CCDS9305.1	84	0.038461538461538464	18	0.036585365853658534	24	0.06629834254143646	1	0.0017482517482517483	41	0.05408970976253298	T	8.097	0.775766	0.16051	0.031321	0.041047	ENSG00000182957	ENST00000424834	.	.	.	5.42	-8.05	0.01106	.	.	.	.	.	T	0.06462	0.0166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50575	-0.8812	4	.	.	.	.	9.7411	0.40418	0.0:0.3084:0.0888:0.6028	rs35793500	.	.	.	R	1079	.	.	C	+	1	0	SPATA13	23766919	0.001000	0.12720	0.818000	0.32626	0.668000	0.39293	-1.799000	0.01746	-1.650000	0.01506	-0.366000	0.07423	TGT	T|0.961;C|0.039	0.039	strong		0.488	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		C	24868919	T	C	24868919	2	2	23	1	0	0	0	0	0	0	0	1	14999	1461	51	2		2	SPATA13	13	24868919	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	625715	24868919	90300959	3205	19661										
RNF17	56163	hgsc.bcm.edu	37	chr13	25378476	25378476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaaaaaatactactttacActatcatccacctattttgc	2	10	1	1	rs9511451	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:25378476A>G	ENST00000255324.5	+	15	2052	c.2000A>G	c.(1999-2001)cAc>cGc	p.H667R	RNF17_ENST00000381921.1_Missense_Mutation_p.H667R|RNF17_ENST00000255325.6_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	667			H -> R (in dbSNP:rs9511451).		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTACTTTACACTATCATCCA	0.348													A|||	1064	0.21246	0.0847	0.2219	5008	,	,		20210	0.3244		0.2913	False		,,,				2504	0.182				p.H667R		Atlas-SNP	.											RNF17_ENST00000255324,NS,carcinoma,+1,1	RNF17	259	1	0			c.A2000G						PASS	.	A	ARG/HIS,ARG/HIS	526,3874	239.0+/-250.2	34,458,1708	92	91	91		2000,2000	0.3	0.1	13	dbSNP_119	91	2517,6083	409.5+/-349.8	346,1825,2129	yes	missense,missense	RNF17	NM_001184993.1,NM_031277.2	29,29	380,2283,3837	GG,GA,AA		29.2674,11.9545,23.4077	benign,benign	667/1620,667/1624	25378476	3043,9957	2200	4300	6500	SO:0001583	missense	56163	exon15			CTTTACACTATCA	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2000A>G	13.37:g.25378476A>G	ENSP00000255324:p.His667Arg	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	116	56	0.482759	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	493	0.22573260073260074	40	0.08130081300813008	82	0.2265193370165746	155	0.270979020979021	216	0.2849604221635884	A	0.018	-1.480284	0.01027	0.119545	0.292674	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047	T;T	0.20069	2.1;2.1	5.5	0.308	0.15815	.	1.211800	0.05578	N	0.572397	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43782	-0.9370	9	0.11485	T	0.65	.	5.0512	0.14508	0.3981:0.1682:0.4338:0.0	rs9511451;rs9511451	667;667	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	R	667;667;526	ENSP00000255324:H667R;ENSP00000371346:H667R	ENSP00000255324:H667R	H	+	2	0	RNF17	24276476	0.001000	0.12720	0.054000	0.19295	0.249000	0.25844	0.214000	0.17541	0.061000	0.16311	0.482000	0.46254	CAC	A|0.776;G|0.224	0.224	strong		0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25378476	A	G	25378476	3	3	23	1	0	0	0	0	1	0	0	0	13461	159	6	2	2058	2	RNF17	13	25378476	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	509557	25378476	89791402	3206	19662										
RNF17	56163	hgsc.bcm.edu	37	chr13	25440318	25440318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgataaaaagtatgaagagGaacaatgggaaataaggttt	11	1	0	3	rs9507425	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:25440318G>A	ENST00000255324.5	+	30	4190	c.4138G>A	c.(4138-4140)Gaa>Aaa	p.E1380K	RNF17_ENST00000381921.1_Missense_Mutation_p.E1338K|RNF17_ENST00000339524.3_Missense_Mutation_p.E390K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1380			E -> K (in dbSNP:rs9507425). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATGAAGAGGAACAATGGGA	0.313													G|||	1062	0.212061	0.0847	0.2205	5008	,	,		17485	0.3254		0.2903	False		,,,				2504	0.181				p.E1380K		Atlas-SNP	.											.	RNF17	259	.	0			c.G4138A						PASS	.	G	LYS/GLU,LYS/GLU	539,3867	240.3+/-251.1	35,469,1699	108	107	107		4126,4138	3.9	0.3	13	dbSNP_119	107	2506,6088	405.8+/-348.6	345,1816,2136	yes	missense,missense	RNF17	NM_001184993.1,NM_031277.2	56,56	380,2285,3835	AA,AG,GG		29.1599,12.2333,23.4231	benign,benign	1376/1620,1380/1624	25440318	3045,9955	2203	4297	6500	SO:0001583	missense	56163	exon30			GAAGAGGAACAAT	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4138G>A	13.37:g.25440318G>A	ENSP00000255324:p.Glu1380Lys	Somatic	332	1	0.00301205		WXS	Illumina HiSeq	Phase_I	316	160	0.506329	NM_031277	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	489	0.2239010989010989	37	0.07520325203252033	82	0.2265193370165746	155	0.270979020979021	215	0.2836411609498681	G	9.703	1.155106	0.21371	0.122333	0.291599	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.23552	3.52;3.41;2.73;1.9	4.74	3.9	0.45041	.	0.094831	0.46442	D	0.000286	T	0.00012	0.0000	L	0.41236	1.265	0.25451	P	0.988003	B;B;B;B	0.09022	0.001;0.0;0.0;0.002	B;B;B;B	0.09377	0.003;0.0;0.004;0.003	T	0.34354	-0.9832	9	0.07644	T	0.81	-20.6408	9.2271	0.37414	0.0994:0.0:0.9006:0.0	rs9507425;rs17480121;rs52806297;rs59442158;rs9507425	1376;390;1374;1380	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	K	1380;1338;704;390	ENSP00000255324:E1380K;ENSP00000371346:E1338K;ENSP00000388892:E704K;ENSP00000344776:E390K	ENSP00000255324:E1380K	E	+	1	0	RNF17	24338318	0.968000	0.33430	0.343000	0.25615	0.557000	0.35523	3.135000	0.50546	1.367000	0.46095	-0.254000	0.11334	GAA	G|0.778;A|0.222	0.222	strong		0.313	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		A	25440318	G	A	25440318	3	1	23	1	0	0	0	0	1	0	0	0	13461	1175	41	2	4256	2	RNF17	13	25440318	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61842	25440318	89729560	3207	19663										
POLR1D	51082	hgsc.bcm.edu	37	chr13	28240021	28240021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttccgcgctcgaggttcCgccagttactccccgccacg	10	18	0	0	rs41291680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:28240021C>T	ENST00000399697.3	+	3	418	c.300C>T	c.(298-300)tcC>tcT	p.S100S	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTCGAGGTTCCGCCAGTTACT	0.607													C|||	42	0.00838658	0.0038	0.0043	5008	,	,		14051	0.001		0.0258	False		,,,				2504	0.0072				p.S100S		Atlas-SNP	.											.	POLR1D	31	.	0			c.C300T						PASS	.	C	,	25,4381	31.7+/-61.6	0,25,2178	72	78	76		216,300	-11.7	0	13	dbSNP_127	76	225,8375	91.6+/-153.7	3,219,4078	no	coding-synonymous,coding-synonymous	POLR1D	NM_001206559.1,NM_152705.2	,	3,244,6256	TT,TC,CC		2.6163,0.5674,1.9222	,	72/95,100/123	28240021	250,12756	2203	4300	6503	SO:0001819	synonymous_variant	51082	exon3			AGGTTCCGCCAGT	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"RNA polymerase subunits"	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000399697.3:c.300C>T	13.37:g.28240021C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_152705	Q5TBX2|Q96BR3	Silent	SNP	ENST00000399697.3	37	CCDS9324.1																																																																																			A|0.000;C|0.983;T|0.017	0.017	strong		0.607	POLR1D-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044306.1	NM_015972, NM_152705		T	28240021	C	T	28240021	2	4	23	1	0	0	0	0	0	0	0	1	12212	639	23	1		1	POLR1D	13	28240021	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2799703	28240021	86929857	3208	19664										
FLT3	2322	hgsc.bcm.edu	37	chr13	28623525	28623525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcagcctgcattacctacGatggtaaccaaagctgattg	10	10	0	1	rs146983744	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:28623525G>A	ENST00000241453.7	-	8	1113	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	FLT3_ENST00000537084.1_Silent_p.I344I|FLT3_ENST00000380982.4_Silent_p.I344I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	344					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTACCTACGATGGTAACCA	0.398			"Mis, O"		"AML, ALL"																																p.I344I		Atlas-SNP	.		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	FLT3	15525	.	0			c.C1032T						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	245	216	226		1032	3.8	1	13	dbSNP_134	226	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	FLT3	NM_004119.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		344/994	28623525	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	2322	exon8			ACCTACGATGGTA	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1032C>T	13.37:g.28623525G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	133	74	0.556391	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	CCDS31953.1																																																																																			G|0.999;A|0.001	0.001	strong		0.398	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			A	28623525	G	A	28623525	2	1	23	1	0	0	0	0	0	0	0	1	5942	1048	37	1		1	FLT3	13	28623525	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	383504	28623525	86546353	3209	19665										
USPL1	10208	hgsc.bcm.edu	37	chr13	31231806	31231806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taatgagaaaccagtatcttTaacatcgtgttctgtgggtg	10	6	2	1	rs7984952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:31231806T>C	ENST00000255304.4	+	9	1934	c.1592T>C	c.(1591-1593)tTa>tCa	p.L531S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	531			L -> S (in dbSNP:rs7984952). {ECO:0000269|PubMed:15489334}.		Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CCAGTATCTTTAACATCGTGT	0.433													C|||	2397	0.478634	0.823	0.389	5008	,	,		20093	0.1796		0.4016	False		,,,				2504	0.4642				p.L531S	Ovarian(60;318 1180 1554 28110 31601)	Atlas-SNP	.											.	USPL1	82	.	0			c.T1592C						PASS	.	C	SER/LEU	3409,997	371.7+/-320.1	1322,765,116	128	123	125		1592	3.5	0	13	dbSNP_116	125	3537,5063	631.3+/-398.5	724,2089,1487	yes	missense	USPL1	NM_005800.4	145	2046,2854,1603	CC,CT,TT		41.1279,22.6282,46.5939	benign	531/1093	31231806	6946,6060	2203	4300	6503	SO:0001583	missense	10208	exon9			TATCTTTAACATC	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1592T>C	13.37:g.31231806T>C	ENSP00000255304:p.Leu531Ser	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	956	0.43772893772893773	408	0.8292682926829268	154	0.425414364640884	100	0.17482517482517482	294	0.38786279683377306	C	10.88	1.475572	0.26511	0.773718	0.411279	ENSG00000132952	ENST00000255304	T	0.07908	3.15	5.54	3.46	0.39613	.	1.048920	0.07340	N	0.880541	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	9	0.10636	T	0.68	-0.3858	8.089	0.30790	0.1311:0.7144:0.0:0.1545	rs7984952;rs17609480;rs17857154;rs61445569;rs7984952	531	Q5W0Q7	USPL1_HUMAN	S	531	ENSP00000255304:L531S	ENSP00000255304:L531S	L	+	2	0	USPL1	30129806	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.369000	0.20416	0.715000	0.32103	-0.119000	0.15052	TTA	T|0.507;C|0.493	0.493	strong		0.433	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		C	31231806	T	C	31231806	3	2	23	1	0	0	0	0	1	0	0	0	17089	1764	61	2	1622	2	USPL1	13	31231806	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2608281	31231806	83938072	3210	19666										
USPL1	10208	hgsc.bcm.edu	37	chr13	31233063	31233063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atatccaattgatattgccaGtgagtctgcatgcaccactg	8	10	1	2	rs3742302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:31233063G>A	ENST00000255304.4	+	9	3191	c.2849G>A	c.(2848-2850)aGt>aAt	p.S950N		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	950			S -> N (in dbSNP:rs3742302). {ECO:0000269|PubMed:15489334}.		Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GATATTGCCAGTGAGTCTGCA	0.413													A|||	2377	0.474641	0.8177	0.3876	5008	,	,		20540	0.1786		0.4006	False		,,,				2504	0.454				p.S950N	Ovarian(60;318 1180 1554 28110 31601)	Atlas-SNP	.											.	USPL1	82	.	0			c.G2849A						PASS	.	A	ASN/SER	3374,1032	380.2+/-323.6	1295,784,124	151	152	152		2849	3.3	0	13	dbSNP_107	152	3532,5068	631.7+/-398.5	722,2088,1490	yes	missense	USPL1	NM_005800.4	46	2017,2872,1614	AA,AG,GG		41.0698,23.4226,46.9014	benign	950/1093	31233063	6906,6100	2203	4300	6503	SO:0001583	missense	10208	exon9			TTGCCAGTGAGTC	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2849G>A	13.37:g.31233063G>A	ENSP00000255304:p.Ser950Asn	Somatic	135	1	0.00740741		WXS	Illumina HiSeq	Phase_I	132	131	0.992424	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	954	0.4368131868131868	407	0.8272357723577236	153	0.42265193370165743	100	0.17482517482517482	294	0.38786279683377306	A	0	-2.731200	0.00089	0.765774	0.410698	ENSG00000132952	ENST00000255304	T	0.13307	2.6	5.75	3.31	0.37934	.	0.929244	0.09333	N	0.816635	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	9	0.14252	T	0.57	-7.2328	12.7153	0.57111	0.7979:0.0:0.2021:0.0	rs3742302;rs17682754;rs17846218;rs17859235;rs52806569;rs60783730;rs3742302	950	Q5W0Q7	USPL1_HUMAN	N	950	ENSP00000255304:S950N	ENSP00000255304:S950N	S	+	2	0	USPL1	30131063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-0.104000	0.12154	-2.276000	0.00273	AGT	G|0.506;N|0.000	.	strong		0.413	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		A	31233063	G	A	31233063	3	1	23	1	0	0	0	0	1	0	0	0	17089	1029	36	2	2879	2	USPL1	13	31233063	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1257	31233063	83936815	3211	19667										
HSPH1	10808	hgsc.bcm.edu	37	chr13	31725260	31725260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagttttaaattctgcacaAaaatgttccactaacttttc	3	8	1	0	rs11556147	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:31725260A>G	ENST00000320027.5	-	7	1076	c.732T>C	c.(730-732)ttT>ttC	p.F244F	HSPH1_ENST00000429785.2_Silent_p.F63F|HSPH1_ENST00000445273.2_Silent_p.F246F|HSPH1_ENST00000380406.5_Silent_p.F203F|HSPH1_ENST00000380405.4_Silent_p.F244F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	244					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ATTCTGCACAAAAATGTTCCA	0.348													A|||	1131	0.225839	0.2451	0.2723	5008	,	,		18635	0.0109		0.4642	False		,,,				2504	0.1431				p.F244F		Atlas-SNP	.											.	HSPH1	65	.	0			c.T732C						PASS	.	A		1261,3145	427.4+/-341.5	171,919,1113	101	100	100		732	-2.6	1	13	dbSNP_120	100	4061,4539	553.7+/-386.4	951,2159,1190	no	coding-synonymous	HSPH1	NM_006644.2		1122,3078,2303	GG,GA,AA		47.2209,28.6201,40.9196		244/859	31725260	5322,7684	2203	4300	6503	SO:0001819	synonymous_variant	10808	exon7			TGCACAAAAATGT	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.732T>C	13.37:g.31725260A>G		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	180	96	0.533333	NM_006644	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	CCDS9340.1																																																																																			A|0.653;G|0.347	0.347	strong		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			G	31725260	A	G	31725260	2	3	23	1	0	0	0	0	0	0	0	1	7431	11	1	2		2	HSPH1	13	31725260	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	492197	31725260	83444618	3212	19668										
HSPH1	10808	hgsc.bcm.edu	37	chr13	31729729	31729729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttttgaatgaaggggtcAttgaatgctcggccatgaaa	11	7	1	4	rs1047086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:31729729A>G	ENST00000320027.5	-	3	572	c.228T>C	c.(226-228)aaT>aaC	p.N76N	HSPH1_ENST00000429785.2_5'UTR|HSPH1_ENST00000445273.2_Silent_p.N78N|HSPH1_ENST00000380406.5_Silent_p.N76N|HSPH1_ENST00000380405.4_Silent_p.N76N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	76					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGAAGGGGTCATTGAATGCTC	0.338													A|||	1131	0.225839	0.2451	0.2723	5008	,	,		16489	0.0109		0.4642	False		,,,				2504	0.1431				p.N76N		Atlas-SNP	.											.	HSPH1	65	.	0			c.T228C						PASS	.	A		1261,3145	430.8+/-342.7	171,919,1113	118	116	117		228	3.3	0.9	13	dbSNP_86	117	4063,4537	557.6+/-387.1	952,2159,1189	no	coding-synonymous	HSPH1	NM_006644.2		1123,3078,2302	GG,GA,AA		47.2442,28.6201,40.935		76/859	31729729	5324,7682	2203	4300	6503	SO:0001819	synonymous_variant	10808	exon3			GGGGTCATTGAAT	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.228T>C	13.37:g.31729729A>G		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	171	78	0.45614	NM_006644	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	CCDS9340.1																																																																																			A|0.651;G|0.349	0.349	strong		0.338	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			G	31729729	A	G	31729729	2	3	23	1	0	0	0	0	0	0	0	1	7431	214	8	2		2	HSPH1	13	31729729	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4469	31729729	83440149	3213	19669										
B3GALTL	145173	hgsc.bcm.edu	37	chr13	31891746	31891746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagctgttatgactccggcGagcctgtgtttctgggagag	14	8	1	2	rs1041073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:31891746G>A	ENST00000343307.4	+	13	1257	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	370			E -> K (in dbSNP:rs1041073). {ECO:0000269|PubMed:12943678, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16899492, ECO:0000269|Ref.5}.		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)		TGACTCCGGCGAGCCTGTGTT	0.507													G|||	3339	0.666733	0.3873	0.7579	5008	,	,		17221	0.7798		0.7575	False		,,,				2504	0.7699				p.E370K		Atlas-SNP	.											.	B3GALTL	48	.	0			c.G1108A						PASS	.	G	LYS/GLU	1833,2573	535.3+/-374.2	397,1039,767	122	118	120		1108	3.2	0	13	dbSNP_86	120	6691,1909	727.8+/-406.7	2586,1519,195	yes	missense	B3GALTL	NM_194318.3	56	2983,2558,962	AA,AG,GG		22.1977,41.6024,34.461	benign	370/499	31891746	8524,4482	2203	4300	6503	SO:0001583	missense	145173	exon13			TCCGGCGAGCCTG	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.1108G>A	13.37:g.31891746G>A	ENSP00000343002:p.Glu370Lys	Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	151	151	1	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	1500	0.6868131868131868	193	0.39227642276422764	287	0.7928176795580111	443	0.7744755244755245	577	0.7612137203166227	G	18.40	3.616191	0.66672	0.416024	0.778023	ENSG00000187676	ENST00000343307	D	0.84944	-1.92	4.93	3.21	0.36854	.	0.160355	0.53938	N	0.000047	T	0.00012	0.0000	L	0.28014	0.82	0.22185	P	0.999307048	D	0.54047	0.964	P	0.45167	0.472	T	0.47262	-0.9131	9	0.30078	T	0.28	-8.7626	7.087	0.25264	0.1525:0.1406:0.7069:0.0	rs1041073;rs52822546;rs59155765;rs1041073	370	Q6Y288	B3GLT_HUMAN	K	370	ENSP00000343002:E370K	ENSP00000343002:E370K	E	+	1	0	B3GALTL	30789746	1.000000	0.71417	0.002000	0.10522	0.489000	0.33432	5.974000	0.70465	0.602000	0.29896	0.650000	0.86243	GAG	G|0.337;A|0.663	0.663	strong		0.507	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		A	31891746	G	A	31891746	3	1	23	1	0	0	0	0	1	0	0	0	1252	1059	37	1	1158	1	B3GALTL	13	31891746	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	162017	31891746	83278132	3214	19670										
FRY	10129	hgsc.bcm.edu	37	chr13	32811607	32811607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaacccgggaaccaccagcGgcaacaccgcaactgccgaa	10	16	0	1	rs2806639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:32811607G>A	ENST00000380250.3	+	44	6398	c.5902G>A	c.(5902-5904)Ggc>Agc	p.G1968S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1968			G -> S (in dbSNP:rs2806639).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACCACCAGCGGCAACACCGC	0.532													G|||	1081	0.215855	0.3487	0.2392	5008	,	,		17080	0.004		0.3091	False		,,,				2504	0.1421				p.G1968S		Atlas-SNP	.											.	FRY	312	.	0			c.G5902A						PASS	.	G	SER/GLY	1295,2733		197,901,916	61	69	66		5902	6.2	1	13	dbSNP_100	66	2626,5758		412,1802,1978	yes	missense	FRY	NM_023037.2	56	609,2703,2894	AA,AG,GG		31.3216,32.15,31.5904	benign	1968/3014	32811607	3921,8491	2014	4192	6206	SO:0001583	missense	10129	exon44			ACCAGCGGCAACA	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5902G>A	13.37:g.32811607G>A	ENSP00000369600:p.Gly1968Ser	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	74	1	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	492	0.22527472527472528	155	0.3150406504065041	89	0.24585635359116023	4	0.006993006993006993	244	0.32189973614775724	G	4.136	0.023614	0.08006	0.3215	0.313216	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21361	2.01	6.17	6.17	0.99709	.	0.227868	0.40554	N	0.001075	T	0.00012	0.0000	L	0.40543	1.245	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	9	0.18710	T	0.47	.	15.9457	0.79792	0.0657:0.0:0.9343:0.0	rs2806639;rs52798355;rs61692237;rs2806639	1968	Q5TBA9	FRY_HUMAN	S	1968;805	ENSP00000369600:G1968S	ENSP00000369600:G1968S	G	+	1	0	FRY	31709607	0.986000	0.35501	0.993000	0.49108	0.081000	0.17604	1.858000	0.39408	2.941000	0.99782	0.655000	0.94253	GGC	G|0.755;A|0.245	0.245	strong		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32811607	G	A	32811607	3	1	23	1	0	0	0	0	1	0	0	0	6063	1116	39	1	6076	1	FRY	13	32811607	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	919861	32811607	82358271	3215	19671										
KL	9365	hgsc.bcm.edu	37	chr13	33635910	33635910	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaattacataaacgaagcTctcaaaggtaaggagcccta	8	9	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:33635910T>C	ENST00000380099.3	+	4	2702	c.2694T>C	c.(2692-2694)gcT>gcC	p.A898A	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	898	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TAAACGAAGCTCTCAAAGGTA	0.473																																					p.A898A		Atlas-SNP	.											.	KL	106	.	0			c.T2694C						PASS	.						77	81	79					13																	33635910		2203	4300	6503	SO:0001819	synonymous_variant	9365	exon4			CGAAGCTCTCAAA	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2694T>C	13.37:g.33635910T>C		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	18	11	0.611111	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																			.	.	none		0.473	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			C	33635910	T	C	33635910	2	2	23	1	0	0	0	0	0	0	0	1	8331	1538	54	3		3	KL	13	33635910	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	824303	33635910	81533968	3216	19672										
SOHLH2	54937	hgsc.bcm.edu	37	chr13	36744800	36744800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgttacagcagttgcatcGtaggaaggggtgactttaga	13	5	0	2	rs2296967	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:36744800G>A	ENST00000379881.3	-	10	1213	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.Y452Y|SOHLH2_ENST00000554962.1_Silent_p.Y452Y	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	375					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y375Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAGTTGCATCGTAGGAAGGGG	0.448													G|||	374	0.0746805	0.003	0.085	5008	,	,		19637	0.0794		0.1014	False		,,,				2504	0.1319				p.Y452Y		Atlas-SNP	.											SOHLH2,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.C1356T						PASS	.	G	,	114,4292	87.8+/-126.4	0,114,2089	161	147	152		1356,1125	1	0	13	dbSNP_100	152	1028,7572	218.1+/-256.6	62,904,3334	no	coding-synonymous,coding-synonymous	SOHLH2,CCDC169-SOHLH2	NM_001198910.1,NM_017826.2	,	62,1018,5423	AA,AG,GG		11.9535,2.5874,8.7806	,	452/503,375/426	36744800	1142,11864	2203	4300	6503	SO:0001819	synonymous_variant	100526761	exon15			TGCATCGTAGGAA	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1125C>T	13.37:g.36744800G>A		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	223	119	0.533632	NM_001198910	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	CCDS9355.1																																																																																			G|0.916;A|0.084	0.084	strong		0.448	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		A	36744800	G	A	36744800	2	1	23	1	0	0	0	0	0	0	0	1	14924	1140	40	1		1	SOHLH2	13	36744800	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3108890	36744800	78425078	3217	19673										
CCNA1	8900	hgsc.bcm.edu	37	chr13	37012830	37012830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagaagcagccagacatcaCggaaggcatgcgcacgattc	12	11	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:37012830C>T	ENST00000255465.4	+	5	983	c.719C>T	c.(718-720)aCg>aTg	p.T240M	CCNA1_ENST00000440264.1_Missense_Mutation_p.T196M|CCNA1_ENST00000418263.1_Missense_Mutation_p.T239M|CCNA1_ENST00000449823.1_Missense_Mutation_p.T196M			P78396	CCNA1_HUMAN	cyclin A1	240					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.T240M(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAGACATCACGGAAGGCATG	0.468																																					p.T240M		Atlas-SNP	.											CCNA1,NS,carcinoma,0,1	CCNA1	91	1	1	Substitution - Missense(1)	endometrium(1)	c.C719T						scavenged	.						114	100	105					13																	37012830		2203	4300	6503	SO:0001583	missense	8900	exon5			ACATCACGGAAGG	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.719C>T	13.37:g.37012830C>T	ENSP00000255465:p.Thr240Met	Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	216	4	0.0185185	NM_003914	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689414	0.88735	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.33	5.33	0.75918	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.64127	-0.6480	10	0.87932	D	0	.	19.3924	0.94590	0.0:1.0:0.0:0.0	.	239;240	P78396-2;P78396	.;CCNA1_HUMAN	M	196;196;239;240	ENSP00000400666:T196M;ENSP00000409873:T196M;ENSP00000396479:T239M;ENSP00000255465:T240M	ENSP00000255465:T240M	T	+	2	0	CCNA1	35910830	1.000000	0.71417	0.957000	0.39632	0.791000	0.44710	7.493000	0.81493	2.641000	0.89580	0.650000	0.86243	ACG	.	.	none		0.468	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		T	37012830	C	T	37012830	3	4	23	1	0	0	0	0	1	0	0	0	2909	536	19	1	737	1	CCNA1	13	37012830	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	268030	37012830	78157048	3218	19674										
FREM2	341640	hgsc.bcm.edu	37	chr13	39263023	39263023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagtggctgagctggcagcCggccaggtggtctaccagca	15	12	1	1	rs12874397	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:39263023C>T	ENST00000280481.7	+	1	1758	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	514					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCTGGCAGCCGGCCAGGTGG	0.602													C|||	422	0.0842652	0.0061	0.1239	5008	,	,		14684	0.004		0.2634	False		,,,				2504	0.0603				p.A514A		Atlas-SNP	.											.	FREM2	385	.	0			c.C1542T						PASS	.	C		190,4216	115.9+/-153.8	4,182,2017	25	25	25		1542	-9.4	0.2	13	dbSNP_121	25	2241,6357	355.9+/-330.1	314,1613,2372	no	coding-synonymous	FREM2	NM_207361.4		318,1795,4389	TT,TC,CC		26.0642,4.3123,18.6942		514/3170	39263023	2431,10573	2203	4299	6502	SO:0001819	synonymous_variant	341640	exon1			GGCAGCCGGCCAG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1542C>T	13.37:g.39263023C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	63	37	0.587302	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			C|0.841;T|0.159	0.159	strong		0.602	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39263023	C	T	39263023	2	4	23	1	0	0	0	0	0	0	0	1	6045	639	23	1		1	FREM2	13	39263023	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2250193	39263023	75906855	3219	19675										
FREM2	341640	hgsc.bcm.edu	37	chr13	39422624	39422624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagactatgtgggcatcagcCgtaatttagattttgcacct	9	9	1	2	rs9548505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:39422624C>T	ENST00000280481.7	+	8	6412	c.6196C>T	c.(6196-6198)Cgt>Tgt	p.R2066C	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2066	Calx-beta 3.		R -> C (in dbSNP:rs9548505). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGCATCAGCCGTAATTTAGA	0.378													C|||	549	0.109625	0.1445	0.2522	5008	,	,		15477	0.001		0.0895	False		,,,				2504	0.0941				p.R2066C		Atlas-SNP	.											.	FREM2	385	.	0			c.C6196T						PASS	.	C	CYS/ARG	624,3782	272.5+/-270.8	46,532,1625	146	142	144		6196	5.7	0.8	13	dbSNP_119	144	938,7662	208.0+/-249.6	67,804,3429	yes	missense	FREM2	NM_207361.4	180	113,1336,5054	TT,TC,CC		10.907,14.1625,12.0098	probably-damaging	2066/3170	39422624	1562,11444	2203	4300	6503	SO:0001583	missense	341640	exon8			ATCAGCCGTAATT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6196C>T	13.37:g.39422624C>T	ENSP00000280481:p.Arg2066Cys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	120	68	0.566667	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	190	0.08699633699633699	61	0.12398373983739837	73	0.20165745856353592	1	0.0017482517482517483	55	0.07255936675461741	C	25.2	4.614809	0.87359	0.141625	0.10907	ENSG00000150893	ENST00000280481	T	0.27557	1.66	5.66	5.66	0.87406	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.00109	0.0003	M	0.86028	2.79	0.09310	P	0.9999999980019	D;D	0.76494	0.999;0.999	P;D	0.64595	0.906;0.927	T	0.00114	-1.2041	9	0.72032	D	0.01	.	19.7538	0.96281	0.0:1.0:0.0:0.0	rs9548505;rs52831056;rs59917479;rs9548505	2066;2066	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2066	ENSP00000280481:R2066C	ENSP00000280481:R2066C	R	+	1	0	FREM2	38320624	1.000000	0.71417	0.774000	0.31636	0.993000	0.82548	4.804000	0.62554	2.690000	0.91761	0.655000	0.94253	CGT	C|0.894;G|0.000;T|0.106	0.106	strong		0.378	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39422624	C	T	39422624	3	4	23	1	0	0	0	0	1	0	0	0	6045	652	23	1	6226	1	FREM2	13	39422624	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	159601	39422624	75747254	3220	19676										
FREM2	341640	hgsc.bcm.edu	37	chr13	39424253	39424253	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttacaatgatccataggaCtggggatgtccagtacagat					rs35252750|rs9548506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:39424253C>G	ENST00000280481.7	+	9	6674	c.6458C>G	c.(6457-6459)aCt>aGt	p.T2153S	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2153	Calx-beta 4.		T -> S (in dbSNP:rs9548506). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCATAGGACTGGGGATGTC	0.458													G|||	460	0.091853	0.0802	0.2478	5008	,	,		19704	0.001		0.0885	False		,,,				2504	0.0941				p.T2153S		Atlas-SNP	.											.	FREM2	385	.	0			c.C6458G						PASS	.	G	SER/THR	8,4398		3,2,2198	122	110	114		6458	3.1	0.8	13	dbSNP_119	114	22,8578		4,14,4282	yes	missense	FREM2	NM_207361.4	58	7,16,6480	GG,GC,CC		0.2558,0.1816,0.2307	benign	2153/3170	39424253	30,12976	2203	4300	6503	SO:0001583	missense	341640	exon9			ATAGGACTGGGGA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6458C>G	13.37:g.39424253C>G	ENSP00000280481:p.Thr2153Ser	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	103	47	0.456311	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	125	0.05723443223443223	27	0.054878048780487805	62	0.1712707182320442	1	0.0017482517482517483	35	0.04617414248021108	G	0.174	-1.069032	0.01918	0.001816	0.002558	ENSG00000150893	ENST00000280481	T	0.29917	1.55	5.79	3.13	0.36017	Na-Ca exchanger/integrin-beta4 (2);	0.091594	0.85682	N	0.000000	T	0.00039	0.0001	N	0.00991	-1.07	0.54753	P	1.7000000000044757E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36480	-0.9746	9	0.02654	T	1	.	8.9843	0.35983	0.1235:0.2282:0.6482:0.0	rs9548506;rs9548506	2153;2153	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	S	2153	ENSP00000280481:T2153S	ENSP00000280481:T2153S	T	+	2	0	FREM2	38322253	1.000000	0.71417	0.751000	0.31187	0.013000	0.08279	3.496000	0.53288	0.100000	0.17581	-0.120000	0.15030	ACT	C|0.913;G|0.087	0.087	strong		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39424253	C	G	39424253	3	3	23	1	0	0	0	0	1	0	0	0	6045	565	20	4	6492	4	FREM2	13	39424253	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1629	39424253	75745625	3221	19677	400	2								
FREM2	341640	hgsc.bcm.edu	37	chr13	39424254	39424254	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttacaatgatccataggacTggggatgtccagtacagatc					rs35252750|rs9548507	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:39424254T>C	ENST00000280481.7	+	9	6675	c.6459T>C	c.(6457-6459)acT>acC	p.T2153T	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2153	Calx-beta 4.		T -> S (in dbSNP:rs9548506). {ECO:0000269|PubMed:17974005}.		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCATAGGACTGGGGATGTCC	0.453													C|||	460	0.091853	0.0802	0.2478	5008	,	,		19720	0.001		0.0885	False		,,,				2504	0.0941				p.T2153T		Atlas-SNP	.											.	FREM2	385	.	0			c.T6459C						PASS	.	C		4,4402		2,0,2201	122	110	114		6459	-2.7	0.7	13	dbSNP_119	114	22,8578		5,12,4283	no	coding-synonymous	FREM2	NM_207361.4		7,12,6484	CC,CT,TT		0.2558,0.0908,0.1999		2153/3170	39424254	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	341640	exon9			TAGGACTGGGGAT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6459T>C	13.37:g.39424254T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	102	47	0.460784	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			T|0.912;C|0.088	0.088	strong		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39424254	T	C	39424254	2	2	23	1	0	0	0	0	0	0	0	1	6045	1567	55	3		3	FREM2	13	39424254	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1	39424254	75745624	3222	19678	400	2								
C13orf23	80209	hgsc.bcm.edu	37	chr13	39598616	39598616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttctaaacatactggtttGgatggcccaagaattcgtgc	9	8	1	1	rs61945763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:39598616G>A	ENST00000352251.3	-	7	1391	c.558C>T	c.(556-558)tcC>tcT	p.S186S	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Silent_p.S164S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	186	Pro-rich.																ATACTGGTTTGGATGGCCCAA	0.333													G|||	312	0.0623003	0.0083	0.2089	5008	,	,		16787	0.001		0.1064	False		,,,				2504	0.0491				p.S186S		Atlas-SNP	.											.	.	.	.	0			c.C558T						PASS	.	G	,	139,4267	98.5+/-137.1	1,137,2065	114	99	104		558,492	0.1	1	13	dbSNP_129	104	1088,7512	225.9+/-261.8	65,958,3277	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	66,1095,5342	AA,AG,GG		12.6512,3.1548,9.4341	,	186/945,164/923	39598616	1227,11779	2203	4300	6503	SO:0001819	synonymous_variant	80209	exon7			TGGTTTGGATGGC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.558C>T	13.37:g.39598616G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	153	64	0.418301	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			G|0.909;A|0.091	0.091	strong		0.333	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39598616	G	A	39598616	2	1	23	1	0	0	0	0	0	0	0	1	1721	1335	47	2		2	C13orf23	13	39598616	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	174362	39598616	75571262	3223	19679										
SLC25A15	10166	hgsc.bcm.edu	37	chr13	41379272	41379272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgatctgcagaatgcagcCgccggttccttcgcctctgc	11	14	2	2	rs9577152	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:41379272C>T	ENST00000338625.4	+	4	569	c.333C>T	c.(331-333)gcC>gcT	p.A111A	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	111					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)	p.A111A(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AGAATGCAGCCGCCGGTTCCT	0.542													T|||	568	0.113419	0.2443	0.0548	5008	,	,		16921	0.0526		0.0825	False		,,,				2504	0.0726				p.A111A		Atlas-SNP	.											SLC25A15,NS,carcinoma,0,1	SLC25A15	30	1	1	Substitution - coding silent(1)	stomach(1)	c.C333T						PASS	.	T		819,3587	749.2+/-412.0	84,651,1468	91	84	86		333	-8.9	0	13	dbSNP_119	86	809,7791	782.3+/-407.6	35,739,3526	yes	coding-synonymous	SLC25A15	NM_014252.3		119,1390,4994	TT,TC,CC		9.407,18.5883,12.5173		111/302	41379272	1628,11378	2203	4300	6503	SO:0001819	synonymous_variant	10166	exon4			TGCAGCCGCCGGT	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.333C>T	13.37:g.41379272C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	93	52	0.55914	NM_014252	Q5VZD8|Q9HC45	Silent	SNP	ENST00000338625.4	37	CCDS9373.1																																																																																			C|0.883;T|0.117	0.117	strong		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		T	41379272	C	T	41379272	2	4	23	1	0	0	0	0	0	0	0	1	14477	639	23	1		1	SLC25A15	13	41379272	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1780656	41379272	73790606	3224	19680										
KIAA0564	23078	hgsc.bcm.edu	37	chr13	42385446	42385446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaaattcgcaacagttgtcTggtagaaagtgatgccgcta	11	7	1	3	rs9562353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:42385446T>C	ENST00000379310.3	-	17	2046	c.1978A>G	c.(1978-1980)Aga>Gga	p.R660G	VWA8_ENST00000281496.6_Missense_Mutation_p.R660G	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	660			R -> G (in dbSNP:rs9562353).			extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AACAGTTGTCTGGTAGAAAGT	0.388													T|||	365	0.0728834	0.0877	0.0476	5008	,	,		7178	0.1349		0.0358	False		,,,				2504	0.045				p.R660G		Atlas-SNP	.											KIAA0564,lymph_node,lymphoid_neoplasm,0,1	.	.	1	0			c.A1978G						PASS	.	T	GLY/ARG,GLY/ARG	508,3898	233.9+/-246.9	28,452,1723	125	127	126		1978,1978	3.1	1	13	dbSNP_119	126	367,8233	122.7+/-181.7	11,345,3944	yes	missense,missense	KIAA0564	NM_001009814.1,NM_015058.1	125,125	39,797,5667	CC,CT,TT		4.2674,11.5297,6.7277	probably-damaging,probably-damaging	660/1040,660/1906	42385446	875,12131	2203	4300	6503	SO:0001583	missense	23078	exon17			GTTGTCTGGTAGA	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1978A>G	13.37:g.42385446T>C	ENSP00000368612:p.Arg660Gly	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	105	56	0.533333	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	148	0.06776556776556776	43	0.08739837398373984	16	0.04419889502762431	64	0.11188811188811189	25	0.032981530343007916	T	15.34	2.805700	0.50315	0.115297	0.042674	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.66995	-0.24;-0.24	5.27	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.06325	0.0163	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54503	-0.8284	10	0.87932	D	0	.	12.9555	0.58425	0.0:0.0:0.4004:0.5996	rs9562353;rs52800556;rs9562353	660	A3KMH1	K0564_HUMAN	G	564;660;660	ENSP00000368612:R660G;ENSP00000281496:R660G	ENSP00000251030:R564G	R	-	1	2	KIAA0564	41283446	0.999000	0.42202	1.000000	0.80357	0.501000	0.33797	1.280000	0.33202	0.898000	0.36418	0.477000	0.44152	AGA	T|0.931;C|0.069	0.069	strong		0.388	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		C	42385446	T	C	42385446	3	2	23	1	0	0	0	0	1	0	0	0	8185	1588	55	3	3859	3	KIAA0564	13	42385446	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1006174	42385446	72784432	3225	19681										
TNFSF11	8600	hgsc.bcm.edu	37	chr13	43148565	43148565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcgccgcaccagcccccTgccgcctcccgctccatgtt	8	23	0	0	rs2296533	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:43148565T>C	ENST00000239849.6	+	1	277	c.126T>C	c.(124-126)ccT>ccC	p.P42P	TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000544862.1_Intron|TNFSF11_ENST00000405262.2_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	42					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	ACCAGCCCCCTGCCGCCTCCC	0.731													C|||	2331	0.465455	0.559	0.4164	5008	,	,		11179	0.4444		0.4712	False		,,,				2504	0.3896				p.P42P		Atlas-SNP	.											.	TNFSF11	43	.	0			c.T126C						PASS	.	C	,	1483,1969		357,769,600	7	8	8		126,	1.9	0.9	13	dbSNP_100	8	2526,4404		528,1470,1467	no	coding-synonymous,intron	TNFSF11	NM_003701.3,NM_033012.3	,	885,2239,2067	CC,CT,TT		36.4502,42.9606,38.6149	,	42/318,	43148565	4009,6373	1726	3465	5191	SO:0001819	synonymous_variant	8600	exon1			GCCCCCTGCCGCC	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.126T>C	13.37:g.43148565T>C		Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_003701	O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	CCDS9384.1																																																																																			T|0.545;C|0.455	0.455	strong		0.731	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			C	43148565	T	C	43148565	2	2	23	1	0	0	0	0	0	0	0	1	16299	1567	55	3		3	TNFSF11	13	43148565	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	763119	43148565	72021313	3226	19682										
EPSTI1	94240	hgsc.bcm.edu	37	chr13	43462435	43462435	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtagagattaaatatgagtTcaggaatcagctcctccaaa	8	7	2	2	rs375469696		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:43462435T>C	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313624.7_3'UTR|EPSTI1_ENST00000313640.7_Missense_Mutation_p.E395G			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)											endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AAATATGAGTTCAGGAATCAG	0.408																																					p.E395G		Atlas-SNP	.											EPSTI1,NS,carcinoma,+1,1	EPSTI1	47	1	0			c.A1184G						scavenged	.						86	84	85					13																	43462435		2203	4300	6503	SO:0001628	intergenic_variant	94240	exon13			ATGAGTTCAGGAA	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462435T>C		Somatic	229	3	0.0131004		WXS	Illumina HiSeq	Phase_I	225	4	0.0177778	NM_001002264	Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780683	0.49891	.	.	ENSG00000133106	ENST00000313640	.	.	.	5.3	4.13	0.48395	.	1.707420	0.03444	N	0.209625	T	0.46698	0.1406	.	.	.	0.19775	N	0.999953	P	0.40180	0.705	B	0.44044	0.439	T	0.39482	-0.9612	8	0.87932	D	0	-0.0281	9.2901	0.37782	0.0:0.0:0.2024:0.7976	.	395	Q96J88-3	.	G	395	.	ENSP00000318982:E395G	E	-	2	0	EPSTI1	42360435	0.514000	0.26202	0.014000	0.15608	0.548000	0.35241	0.960000	0.29253	0.964000	0.38108	0.533000	0.62120	GAA	.	.	none		0.408	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		C	43462435	T	C	43462435	1	2	23	0	1	0	0	0	0	0	0	0	5198	1783	62	2		2	EPSTI1	13	43462435	IGR	SNP	T	TCGA-GR-7353-01A-11D-2210-10	313870	43462435	71707443	3227	19683										
C13orf31	144811	hgsc.bcm.edu	37	chr13	44457984	44457984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaataaccacaaatcagagAggagtcacaatagcagctct	9	9	3	1	rs9533673	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:44457984A>G	ENST00000441843.1	+	4	1304	c.819A>G	c.(817-819)agA>agG	p.R273R	LACC1_ENST00000325686.6_Silent_p.R273R	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	273																	CAAATCAGAGAGGAGTCACAA	0.413													A|||	324	0.0646965	0.1029	0.0793	5008	,	,		15921	0.0		0.1014	False		,,,				2504	0.0317				p.R273R		Atlas-SNP	.											.	.	.	.	0			c.A819G						PASS	.	A	,	476,3930	222.3+/-239.2	25,426,1752	115	109	111		819,819	1.7	1	13	dbSNP_119	111	871,7729	196.5+/-241.4	51,769,3480	no	coding-synonymous,coding-synonymous	LACC1	NM_001128303.1,NM_153218.2	,	76,1195,5232	GG,GA,AA		10.1279,10.8034,10.3568	,	273/431,273/431	44457984	1347,11659	2203	4300	6503	SO:0001819	synonymous_variant	144811	exon4			TCAGAGAGGAGTC	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.819A>G	13.37:g.44457984A>G		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	200	98	0.49	NM_001128303	A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	CCDS9391.1																																																																																			A|0.903;G|0.097	0.097	strong		0.413	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		G	44457984	A	G	44457984	2	3	23	1	0	0	0	0	0	0	0	1	1726	301	11	3		3	C13orf31	13	44457984	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	995549	44457984	70711894	3228	19684										
COG3	83548	hgsc.bcm.edu	37	chr13	46104849	46104849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtcttccagaagttccaCgctctgttaaaggaagagtt	9	9	2	2	rs62637564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:46104849C>T	ENST00000349995.5	+	22	2503	c.2391C>T	c.(2389-2391)caC>caT	p.H797H		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	797					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AGAAGTTCCACGCTCTGTTAA	0.393													T|||	189	0.0377396	0.115	0.0144	5008	,	,		16886	0.0		0.0169	False		,,,				2504	0.0102				p.H797H	Ovarian(150;1048 1859 18083 21577 42700)	Atlas-SNP	.											.	COG3	52	.	0			c.C2391T						PASS	.	T		363,4043		11,341,1851	114	109	111		2391	-3.4	0.3	13	dbSNP_129	111	174,8426		4,166,4130	no	coding-synonymous	COG3	NM_031431.3		15,507,5981	TT,TC,CC		2.0233,8.2388,4.1289		797/829	46104849	537,12469	2203	4300	6503	SO:0001819	synonymous_variant	83548	exon22			GTTCCACGCTCTG	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.2391C>T	13.37:g.46104849C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	122	61	0.5	NM_031431	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	CCDS9398.1																																																																																			C|0.964;T|0.036	0.036	strong		0.393	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			T	46104849	C	T	46104849	2	4	23	1	0	0	0	0	0	0	0	1	3659	535	19	1		1	COG3	13	46104849	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1646865	46104849	69065029	3229	19685										
CPB2	1361	hgsc.bcm.edu	37	chr13	46648094	46648094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatatggcatttttggctgCttgttcttttccagaaacct	7	10	1	1	rs3742264	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:46648094C>T	ENST00000181383.4	-	6	521	c.505G>A	c.(505-507)Gca>Aca	p.A169T	CPB2_ENST00000439329.3_Missense_Mutation_p.A169T|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	169			A -> T (in dbSNP:rs3742264). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1939207}.		blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTTTTGGCTGCTTGTTCTTTT	0.378													T|||	1539	0.307308	0.4251	0.304	5008	,	,		17258	0.256		0.336	False		,,,				2504	0.1738				p.A169T		Atlas-SNP	.											.	CPB2	60	.	0			c.G505A	GRCh37	CM063919	CPB2	M	rs3742264	PASS	.	T	THR/ALA,THR/ALA	1714,2692	650.9+/-399.1	329,1056,818	110	97	102		505,505	2.7	0	13	dbSNP_107	102	2782,5818	677.6+/-403.4	441,1900,1959	yes	missense,missense	CPB2	NM_001872.3,NM_016413.3	58,58	770,2956,2777	TT,TC,CC		32.3488,38.9015,34.5687	benign,benign	169/424,169/361	46648094	4496,8510	2203	4300	6503	SO:0001583	missense	1361	exon6			TGGCTGCTTGTTC	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.505G>A	13.37:g.46648094C>T	ENSP00000181383:p.Ala169Thr	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_001872	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	CCDS9401.1	744	0.34065934065934067	205	0.4166666666666667	114	0.3149171270718232	158	0.2762237762237762	267	0.35224274406332456	T	4.510	0.094684	0.08681	0.389015	0.323488	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.29397	1.57;2.83	5.17	2.66	0.31614	Peptidase M14, carboxypeptidase A (2);	0.842873	0.10925	N	0.619022	T	0.00012	0.0000	N	0.04686	-0.185	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48714	-0.9011	9	0.11485	T	0.65	.	4.6888	0.12771	0.1407:0.1611:0.0:0.6983	rs3742264;rs52803778;rs57767929;rs3742264	169;169	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	T	169	ENSP00000181383:A169T;ENSP00000400714:A169T	ENSP00000181383:A169T	A	-	1	0	CPB2	45546095	0.000000	0.05858	0.046000	0.18839	0.841000	0.47740	0.765000	0.26546	0.049000	0.15920	-0.360000	0.07572	GCA	C|0.653;T|0.347	0.347	strong		0.378	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		T	46648094	C	T	46648094	3	4	23	1	0	0	0	0	1	0	0	0	3797	797	28	2	790	2	CPB2	13	46648094	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	543245	46648094	68521784	3230	19686										
LCP1	3936	hgsc.bcm.edu	37	chr13	46705031	46705031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaacctggttggatggcatCgatgaggtccagaacaggca	15	8	0	2	rs534221736		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:46705031C>T	ENST00000398576.2	-	18	2057	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LCP1_ENST00000435666.2_Missense_Mutation_p.D126N|LCP1_ENST00000323076.2_Missense_Mutation_p.D557N			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	557	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGGATGGCATCGATGAGGTCC	0.423			T	BCL6	NHL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19094	0.0		0.0	False		,,,				2504	0.0				p.D557N		Atlas-SNP	.		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	LCP1,colon,carcinoma,0,1	LCP1	69	1	0			c.G1669A						scavenged	.						198	183	188					13																	46705031		2203	4300	6503	SO:0001583	missense	3936	exon15			TGGCATCGATGAG	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1669G>A	13.37:g.46705031C>T	ENSP00000381581:p.Asp557Asn	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	231	3	0.012987	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365069	0.95877	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94330	-3.4;-3.4;-3.4	5.36	5.36	0.76844	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.94745	0.8304	L	0.44542	1.39	0.80722	D	1	B;D	0.61697	0.425;0.99	B;D	0.66847	0.242;0.947	D	0.92906	0.6343	10	0.25751	T	0.34	-25.6654	18.4418	0.90669	0.0:1.0:0.0:0.0	.	126;557	B4DUA0;P13796	.;PLSL_HUMAN	N	557;557;126	ENSP00000315757:D557N;ENSP00000381581:D557N;ENSP00000405134:D126N	ENSP00000315757:D557N	D	-	1	0	LCP1	45603032	1.000000	0.71417	0.960000	0.40013	0.925000	0.55904	7.763000	0.85283	2.673000	0.90976	0.609000	0.83330	GAT	.	.	none		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		T	46705031	C	T	46705031	3	4	23	1	0	0	0	0	1	0	0	0	8691	884	31	1	222	1	LCP1	13	46705031	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	56937	46705031	68464847	3231	19687										
HTR2A	3356	hgsc.bcm.edu	37	chr13	47469939	47469939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagaagtgttagcttctcCggagttaaagtcattactgt	9	7	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:47469939C>T	ENST00000378688.4	-	1	234	c.103G>A	c.(103-105)Gga>Aga	p.G35R	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.G35R			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	35					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTAGCTTCTCCGGAGTTAAAG	0.428																																					p.G35R		Atlas-SNP	.											.	HTR2A	98	.	0			c.G103A						PASS	.						102	100	101					13																	47469939		2203	4300	6503	SO:0001583	missense	3356	exon2			CTTCTCCGGAGTT	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.103G>A	13.37:g.47469939C>T	ENSP00000367959:p.Gly35Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	1.837	-0.468315	0.04445	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.54866	0.55;0.55	5.49	1.83	0.25207	.	0.180503	0.39407	N	0.001371	T	0.29588	0.0738	N	0.17082	0.46	0.23309	N	0.997934	B	0.15473	0.013	B	0.08055	0.003	T	0.18272	-1.0342	10	0.13853	T	0.58	.	8.1078	0.30896	0.0:0.6054:0.0:0.3946	.	35	P28223	5HT2A_HUMAN	R	35	ENSP00000367959:G35R;ENSP00000437737:G35R	ENSP00000367959:G35R	G	-	1	0	HTR2A	46367940	0.018000	0.18449	0.035000	0.18076	0.996000	0.88848	0.190000	0.17057	0.028000	0.15324	0.585000	0.79938	GGA	.	.	none		0.428	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		T	47469939	C	T	47469939	3	4	23	1	0	0	0	0	1	0	0	0	7441	661	23	1	1324	1	HTR2A	13	47469939	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	764908	47469939	67699939	3232	19688										
DHRS12	79758	hgsc.bcm.edu	37	chr13	52343391	52343391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcggagcgcaggcggtcccCgaacctggcgtggaaccccg	15	16	0	0	rs10676	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:52343391C>T	ENST00000444610.2	-	9	758	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	DHRS12_ENST00000490949.1_5'Flank|DHRS12_ENST00000218981.1_Missense_Mutation_p.G200R	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	249							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		AGGCGGTCCCCGAACCTGGCG	0.662													T|||	646	0.128994	0.23	0.219	5008	,	,		13794	0.001		0.0596	False		,,,				2504	0.1319				p.G249R		Atlas-SNP	.											.	DHRS12	28	.	0			c.G745A						PASS	.	T	ARG/GLY	858,3526		85,688,1419	12	12	12		598	-4.2	0	13	dbSNP_52	12	640,7946		26,588,3679	yes	missense	DHRS12	NM_024705.1	125	111,1276,5098	TT,TC,CC		7.454,19.5712,11.5497		200/243	52343391	1498,11472	2192	4293	6485	SO:0001583	missense	79758	exon9			GGTCCCCGAACCT	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.745G>A	13.37:g.52343391C>T	ENSP00000411565:p.Gly249Arg	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_001270424	Q96GB2|Q9H8H1	Missense_Mutation	SNP	ENST00000444610.2	37	CCDS58292.1	217	0.09935897435897435	104	0.21138211382113822	68	0.1878453038674033	0	0.0	45	0.059366754617414245	T	5.572	0.290416	0.10567	0.195712	0.07454	ENSG00000102796	ENST00000444610;ENST00000218981	D;D	0.90261	-2.02;-2.64	2.99	-4.22	0.03800	NAD(P)-binding domain (1);	.	.	.	.	T	0.00178	0.0005	N	0.11870	0.19	0.80722	P	0.0	B;B	0.16396	0.017;0.001	B;B	0.15052	0.012;0.001	T	0.03863	-1.0997	8	0.23891	T	0.37	.	6.9036	0.24297	0.0:0.5162:0.1436:0.3402	rs10676;rs1052630;rs3193083;rs17342527;rs17350152;rs10676	200;249	A0PJE2-2;A0PJE2	.;DHR12_HUMAN	R	249;200	ENSP00000411565:G249R;ENSP00000218981:G200R	ENSP00000218981:G200R	G	-	1	0	DHRS12	51241392	0.475000	0.25894	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-1.374000	0.02131	-1.322000	0.01289	GGG	C|0.885;T|0.115	0.115	strong		0.662	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		T	52343391	C	T	52343391	3	4	23	1	0	0	0	0	1	0	0	0	4488	652	23	1	134	1	DHRS12	13	52343391	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4873452	52343391	62826487	3233	19689										
OLFM4	10562	hgsc.bcm.edu	37	chr13	53608632	53608632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtttgagaaagaactttcCaaagtaagcattttcttttc	6	6	1	2	rs2298231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:53608632C>T	ENST00000219022.2	+	2	432	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	118					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAGAACTTTCCAAAGTAAGCA	0.358													T|||	2831	0.565296	0.4168	0.6225	5008	,	,		19452	0.7242		0.501	False		,,,				2504	0.6278				p.S118S		Atlas-SNP	.											.	OLFM4	94	.	0			c.C354T						PASS	.	T		1919,2487	625.9+/-394.6	395,1129,679	44	39	40		354	3	1	13	dbSNP_100	40	4200,4400	581.9+/-391.3	1079,2042,1179	no	coding-synonymous	OLFM4	NM_006418.4		1474,3171,1858	TT,TC,CC		48.8372,43.5542,47.0475		118/511	53608632	6119,6887	2203	4300	6503	SO:0001819	synonymous_variant	10562	exon2			ACTTTCCAAAGTA	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.354C>T	13.37:g.53608632C>T		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	71	71	1	NM_006418	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																			C|0.494;T|0.506	0.506	strong		0.358	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		T	53608632	C	T	53608632	2	4	23	1	0	0	0	0	0	0	0	1	10855	581	21	2		2	OLFM4	13	53608632	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1265241	53608632	61561246	3234	19690										
DIAPH3	81624	hgsc.bcm.edu	37	chr13	60240961	60240961	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgaacgtgacccttctgtCaactgcactttctgattttc	7	11	3	3	rs9538494	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:60240961C>T	ENST00000400324.4	-	28	3559	c.3339G>A	c.(3337-3339)ttG>ttA	p.L1113L	DIAPH3_ENST00000400319.1_Silent_p.L1043L|DIAPH3_ENST00000400330.1_Silent_p.L1113L|DIAPH3_ENST00000377908.2_Silent_p.L1102L|DIAPH3_ENST00000400320.1_Silent_p.L1067L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1113					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)		ACCCTTCTGTCAACTGCACTT	0.368													C|||	736	0.146965	0.0242	0.2147	5008	,	,		17183	0.1071		0.2594	False		,,,				2504	0.1902				p.L1113L		Atlas-SNP	.											.	DIAPH3	139	.	0			c.G3339A						PASS	.	C		241,3523		9,223,1650	110	101	104		3339	4.1	1	13	dbSNP_119	104	2196,6046		292,1612,2217	no	coding-synonymous	DIAPH3	NM_001042517.1		301,1835,3867	TT,TC,CC		26.644,6.4028,20.2982		1113/1194	60240961	2437,9569	1882	4121	6003	SO:0001819	synonymous_variant	81624	exon28			TTCTGTCAACTGC	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.3339G>A	13.37:g.60240961C>T		Somatic	293	1	0.00341297		WXS	Illumina HiSeq	Phase_I	286	283	0.98951	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	CCDS41898.1																																																																																			C|0.820;T|0.180	0.180	strong		0.368	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60240961	C	T	60240961	2	4	23	1	0	0	0	0	0	0	0	1	4520	825	29	2		2	DIAPH3	13	60240961	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6632329	60240961	54928917	3235	19691										
DIAPH3	81624	hgsc.bcm.edu	37	chr13	60566644	60566644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccacaacgcataaattcaTttctgatgtgaagcctgaaa	6	9	2	3	rs36084898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:60566644T>C	ENST00000400324.4	-	10	1308	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DIAPH3_ENST00000400319.1_Missense_Mutation_p.N293S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.N363S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.N352S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N317S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.N363S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	363	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.		N -> S (in dbSNP:rs36084898).		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)		CATAAATTCATTTCTGATGTG	0.388													T|||	372	0.0742812	0.1074	0.121	5008	,	,		14649	0.0317		0.0557	False		,,,				2504	0.0593				p.N363S		Atlas-SNP	.											.	DIAPH3	139	.	0			c.A1088G						PASS	.	T	SER/ASN,SER/ASN	352,3414		14,324,1545	71	65	67		1088,299	5.8	1	13	dbSNP_126	67	448,7764		14,420,3672	yes	missense,missense	DIAPH3	NM_001042517.1,NM_030932.3	46,46	28,744,5217	CC,CT,TT		5.4554,9.3468,6.6789	probably-damaging,probably-damaging	363/1194,100/850	60566644	800,11178	1883	4106	5989	SO:0001583	missense	81624	exon10			AATTCATTTCTGA	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.1088A>G	13.37:g.60566644T>C	ENSP00000383178:p.Asn363Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	141	0.06456043956043957	47	0.09552845528455285	36	0.09944751381215469	18	0.03146853146853147	40	0.052770448548812667	T	14.92	2.680034	0.47886	0.093468	0.054554	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.8	5.8	0.92144	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.65320	2	0.43830	D	0.9964	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.992	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.997;0.987	T	0.65055	-0.6261	10	0.21540	T	0.41	.	16.1372	0.81494	0.0:0.0:0.0:1.0	rs36084898	293;317;352;100;363	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	S	363;363;352;317;293;352;293;317;363;100;363	ENSP00000383178:N363S;ENSP00000383184:N363S;ENSP00000367141:N352S;ENSP00000383173:N293S;ENSP00000383174:N317S;ENSP00000267215:N363S	ENSP00000267214:N100S	N	-	2	0	DIAPH3	59464645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	2.207000	0.71202	0.455000	0.32223	AAT	T|0.940;C|0.060	0.060	strong		0.388	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		C	60566644	T	C	60566644	3	2	23	1	0	0	0	0	1	0	0	0	4520	1493	52	2	2589	2	DIAPH3	13	60566644	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	325683	60566644	54603234	3236	19692										
PCDH9	5101	hgsc.bcm.edu	37	chr13	67800419	67800419	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcctttattgtttccactCactatagtatactttagttc	4	9	1	0	rs41283952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:67800419C>G	ENST00000377865.2	-	1	2288	c.2154G>C	c.(2152-2154)gtG>gtC	p.V718V	PCDH9_ENST00000328454.5_Silent_p.V718V|PCDH9_ENST00000377861.3_Silent_p.V718V|PCDH9_ENST00000456367.1_Silent_p.V718V|PCDH9_ENST00000544246.1_Silent_p.V718V			Q9HC56	PCDH9_HUMAN	protocadherin 9	718	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTTTCCACTCACTATAGTAT	0.448													C|||	116	0.0231629	0.0023	0.0922	5008	,	,		20791	0.0		0.0417	False		,,,				2504	0.0072				p.V718V		Atlas-SNP	.											.	PCDH9	252	.	0			c.G2154C						PASS	.	C	,	36,4370	41.6+/-74.8	1,34,2168	134	134	134		2154,2154	2.1	1	13	dbSNP_127	134	333,8267	115.5+/-175.4	11,311,3978	no	coding-synonymous,coding-synonymous	PCDH9	NM_020403.4,NM_203487.2	,	12,345,6146	GG,GC,CC		3.8721,0.8171,2.8372	,	718/1204,718/1238	67800419	369,12637	2203	4300	6503	SO:0001819	synonymous_variant	5101	exon2			TCCACTCACTATA	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2154G>C	13.37:g.67800419C>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	164	77	0.469512	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																			C|0.970;G|0.030	0.030	strong		0.448	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		G	67800419	C	G	67800419	2	3	23	1	0	0	0	0	0	0	0	1	11518	813	29	4		4	PCDH9	13	67800419	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7233775	67800419	47369459	3237	19693										
KLHL1	57626	hgsc.bcm.edu	37	chr13	70681598	70681598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagaggacggggaggacgaTgaagaggaagaggaggaagg	22	2	0	4	rs3751427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:70681598T>C	ENST00000377844.4	-	1	993	c.234A>G	c.(232-234)tcA>tcG	p.S78S	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	78	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gggaggacgatgaagaggaag	0.592													c|||	848	0.169329	0.2489	0.0865	5008	,	,		17084	0.2897		0.0577	False		,,,				2504	0.1115				p.S78S		Atlas-SNP	.											.	KLHL1	164	.	0			c.A234G						PASS	.	G		934,3472	737.4+/-410.9	99,736,1368	80	85	83		234	-8.5	0	13	dbSNP_107	83	482,8118	797.8+/-407.4	15,452,3833	no	coding-synonymous	KLHL1	NM_020866.2		114,1188,5201	CC,CT,TT		5.6047,21.1984,10.8873		78/749	70681598	1416,11590	2203	4300	6503	SO:0001819	synonymous_variant	57626	exon1			GGACGATGAAGAG	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.234A>G	13.37:g.70681598T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	100	48	0.48	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																			T|0.866;C|0.134	0.134	strong		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		C	70681598	T	C	70681598	2	2	23	1	0	0	0	0	0	0	0	1	8365	1451	51	2		2	KLHL1	13	70681598	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2881179	70681598	44488280	3238	19694										
LMO7	4008	hgsc.bcm.edu	37	chr13	76335109	76335109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcttgtgaacagattggAttgaaagaagcccagctttt	10	6	0	4	rs17706535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:76335109A>G	ENST00000341547.4	+	5	1668	c.408A>G	c.(406-408)ggA>ggG	p.G136G	LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Silent_p.G136G|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Silent_p.G45G|LMO7_ENST00000357063.3_Silent_p.G136G|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	136	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAGATTGGATTGAAAGAAG	0.358													A|||	341	0.0680911	0.0053	0.0922	5008	,	,		16064	0.003		0.1292	False		,,,				2504	0.1401				p.G136G		Atlas-SNP	.											.	LMO7	334	.	0			c.A408G						PASS	.	A	,	99,4307	76.8+/-115.0	4,91,2108	77	76	76		408,	4.4	1	13	dbSNP_123	76	982,7618	212.5+/-252.8	56,870,3374	no	coding-synonymous,utr-5	LMO7	NM_005358.5,NM_015842.2	,	60,961,5482	GG,GA,AA		11.4186,2.2469,8.3115	,	136/1350,	76335109	1081,11925	2203	4300	6503	SO:0001819	synonymous_variant	4008	exon5			GATTGGATTGAAA	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.408A>G	13.37:g.76335109A>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	78	39	0.5	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000341547.4	37	CCDS9454.1																																																																																			A|0.921;G|0.079	0.079	strong		0.358	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		G	76335109	A	G	76335109	2	3	23	1	0	0	0	0	0	0	0	1	8855	320	12	2		2	LMO7	13	76335109	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5653511	76335109	38834769	3239	19695										
SCEL	8796	hgsc.bcm.edu	37	chr13	78188078	78188078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcagccccaaagctgtcaAaaacactgatgggtaagaga	10	9	2	2	rs8002725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:78188078A>G	ENST00000349847.3	+	24	1523	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	SCEL_ENST00000535157.1_Missense_Mutation_p.K438R|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Missense_Mutation_p.K460R	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	480	16 X approximate tandem repeats.		K -> R (in dbSNP:rs8002725).		embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAGCTGTCAAAAACACTGAT	0.328													A|||	1081	0.215855	0.3903	0.1729	5008	,	,		17587	0.1409		0.1183	False		,,,				2504	0.1881				p.K480R		Atlas-SNP	.											.	SCEL	85	.	0			c.A1439G						PASS	.	A	ARG/LYS,ARG/LYS,ARG/LYS	1565,2841	489.0+/-361.4	284,997,922	182	174	177		1313,1379,1439	3.9	1	13	dbSNP_116	177	1284,7316	254.1+/-279.5	110,1064,3126	yes	missense,missense,missense	SCEL	NM_001160706.1,NM_003843.3,NM_144777.2	26,26,26	394,2061,4048	GG,GA,AA		14.9302,35.5197,21.9053	possibly-damaging,possibly-damaging,possibly-damaging	438/647,460/669,480/689	78188078	2849,10157	2203	4300	6503	SO:0001583	missense	8796	exon24			CTGTCAAAAACAC	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1439A>G	13.37:g.78188078A>G	ENSP00000302579:p.Lys480Arg	Somatic	242	1	0.00413223		WXS	Illumina HiSeq	Phase_I	213	113	0.530516	NM_144777	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	413	0.1891025641025641	176	0.35772357723577236	68	0.1878453038674033	82	0.14335664335664336	87	0.11477572559366754	A	8.124	0.781687	0.16120	0.355197	0.149302	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;T;D	0.81579	-1.51;1.84;-1.51	5.14	3.93	0.45458	.	0.112463	0.40144	N	0.001165	T	0.00012	0.0000	L	0.55103	1.725	0.42313	P	0.007777999999999952	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.14578	0.01;0.011;0.01	T	0.16512	-1.0400	9	0.15952	T	0.53	-18.9715	8.1757	0.31281	0.9068:0.0:0.0932:0.0	rs8002725;rs52813774;rs61017956;rs8002725	438;460;480	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	R	438;460;480	ENSP00000437895:K438R;ENSP00000366454:K460R;ENSP00000302579:K480R	ENSP00000302579:K480R	K	+	2	0	SCEL	77086079	0.958000	0.32768	0.980000	0.43619	0.070000	0.16714	1.211000	0.32382	0.883000	0.36040	0.454000	0.30748	AAA	A|0.790;G|0.209	0.209	strong		0.328	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		G	78188078	A	G	78188078	3	3	23	1	0	0	0	0	1	0	0	0	13888	14	1	2	1529	2	SCEL	13	78188078	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1852969	78188078	36981800	3240	19696										
SCEL	8796	hgsc.bcm.edu	37	chr13	78216915	78216915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttatagacagacaatacaCtgtgaaccttgctactctaa	5	9	1	3	rs2813739	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:78216915C>T	ENST00000349847.3	+	32	2106	c.2022C>T	c.(2020-2022)caC>caT	p.H674H	SCEL_ENST00000535157.1_Silent_p.H632H|SCEL_ENST00000377246.3_Silent_p.H654H	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	674	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGACAATACACTGTGAACCTT	0.318													C|||	755	0.150759	0.1626	0.1556	5008	,	,		16708	0.1409		0.1252	False		,,,				2504	0.1677				p.H674H		Atlas-SNP	.											.	SCEL	85	.	0			c.C2022T						PASS	.	C	,,	750,3656	304.4+/-288.4	65,620,1518	106	106	106		1896,1962,2022	1.9	1	13	dbSNP_100	106	1240,7356	246.5+/-274.9	104,1032,3162	no	coding-synonymous,coding-synonymous,coding-synonymous	SCEL	NM_001160706.1,NM_003843.3,NM_144777.2	,,	169,1652,4680	TT,TC,CC		14.4253,17.0222,15.3053	,,	632/647,654/669,674/689	78216915	1990,11012	2203	4298	6501	SO:0001819	synonymous_variant	8796	exon32			AATACACTGTGAA	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.2022C>T	13.37:g.78216915C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	117	59	0.504274	NM_144777	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	ENST00000349847.3	37	CCDS9459.1																																																																																			C|0.851;T|0.149	0.149	strong		0.318	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		T	78216915	C	T	78216915	2	4	23	1	0	0	0	0	0	0	0	1	13888	564	20	2		2	SCEL	13	78216915	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28837	78216915	36952963	3241	19697										
SLAIN1	122060	hgsc.bcm.edu	37	chr13	78320801	78320801	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatttgatcatttgccaccaCctcagcctcgtcttccaaga	5	14	3	2	rs144139933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:78320801C>G	ENST00000466548.1	+	5	1029	c.1003C>G	c.(1003-1005)Cct>Gct	p.P335A	SLAIN1_ENST00000488699.1_Missense_Mutation_p.P193A|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P72A|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P116A|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P116A|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P72A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	335										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTTGCCACCACCTCAGCCTCG	0.468													C|||	6	0.00119808	0.0	0.0014	5008	,	,		19409	0.0		0.005	False		,,,				2504	0.0				p.P357A		Atlas-SNP	.											.	SLAIN1	43	.	0			c.C1069G						PASS	.	C	ALA/PRO,ALA/PRO,,,ALA/PRO,ALA/PRO	2,4404	4.2+/-10.8	0,2,2201	158	150	153		577,1069,,,211,214	5.9	1	13	dbSNP_134	153	21,8579	16.6+/-54.9	0,21,4279	yes	missense,missense,intron,intron,missense,missense	SLAIN1	NM_001040153.3,NM_001242868.1,NM_001242869.1,NM_001242870.1,NM_001242871.1,NM_144595.3	27,27,,,27,27	0,23,6480	GG,GC,CC		0.2442,0.0454,0.1768	probably-damaging,probably-damaging,,,probably-damaging,probably-damaging	193/427,357/591,,,71/305,72/306	78320801	23,12983	2203	4300	6503	SO:0001583	missense	122060	exon4			CCACCACCTCAGC	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1003C>G	13.37:g.78320801C>G	ENSP00000419730:p.Pro335Ala	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	181	95	0.524862	NM_001242868	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37		5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	20.3	3.960845	0.74016	4.54E-4	0.002442	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000446759;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000462234;ENST00000496045;ENST00000474663;ENST00000358679	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.71414	0.973;0.973;0.96	T	0.74697	-0.3578	8	.	.	.	-15.4977	20.3325	0.98724	0.0:1.0:0.0:0.0	.	71;193;335	B7Z326;B7Z209;Q8ND83	.;.;SLAI1_HUMAN	A	335;335;116;116;166;193;116;72;72;72;72;72;72	.	.	P	+	1	0	SLAIN1	77218802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.805000	0.96524	0.655000	0.94253	CCT	C|0.999;G|0.001	0.001	strong		0.468	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		G	78320801	C	G	78320801	3	3	23	1	0	0	0	0	1	0	0	0	14365	507	18	4	356	4	SLAIN1	13	78320801	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	103886	78320801	36849077	3242	19698										
SLITRK5	26050	hgsc.bcm.edu	37	chr13	88328488	88328488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacgaggtatccaagcaggAactttgcccaaggagactta	12	9	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:88328488A>G	ENST00000325089.6	+	2	1064	c.845A>G	c.(844-846)gAa>gGa	p.E282G	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E41G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	282	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCAAGCAGGAACTTTGCCCA	0.542																																					p.E282G		Atlas-SNP	.											SLITRK5,NS,carcinoma,+1,2	SLITRK5	192	2	0			c.A845G						scavenged	.						79	81	80					13																	88328488		2203	4300	6503	SO:0001583	missense	26050	exon2			AGCAGGAACTTTG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.845A>G	13.37:g.88328488A>G	ENSP00000366283:p.Glu282Gly	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	92	2	0.0217391	NM_015567	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348684	0.61183	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.50548	0.74;0.74	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.81682	2.555	0.58432	D	0.999996	D;D	0.76494	0.999;0.998	D;D	0.70935	0.971;0.971	T	0.71938	-0.4441	9	.	.	.	-10.5001	14.0293	0.64606	1.0:0.0:0.0:0.0	.	41;282	B4DSH5;O94991	.;SLIK5_HUMAN	G	282;41	ENSP00000366283:E282G;ENSP00000442244:E41G	.	E	+	2	0	SLITRK5	87126489	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.146000	0.77373	2.199000	0.70637	0.402000	0.26972	GAA	.	.	none		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			G	88328488	A	G	88328488	3	3	23	1	0	0	0	0	1	0	0	0	14746	246	9	2	847	2	SLITRK5	13	88328488	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10007687	88328488	26841390	3243	19699										
GPR180	160897	hgsc.bcm.edu	37	chr13	95273447	95273447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctccagtgggattctacGcctgcatccactggcattgc	9	15	2	0	rs12429818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:95273447G>A	ENST00000376958.4	+	6	877	c.852G>A	c.(850-852)acG>acA	p.T284T		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	284					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGGATTCTACGCCTGCATCCA	0.423													G|||	830	0.165735	0.0045	0.2839	5008	,	,		15479	0.2728		0.1054	False		,,,				2504	0.2515				p.T284T		Atlas-SNP	.											.	GPR180	24	.	0			c.G852A						PASS	.	G		152,4254	104.3+/-142.8	1,150,2052	151	135	141		852	-6.3	0.3	13	dbSNP_120	141	961,7639	209.7+/-250.8	38,885,3377	no	coding-synonymous	GPR180	NM_180989.5		39,1035,5429	AA,AG,GG		11.1744,3.4498,8.5576		284/441	95273447	1113,11893	2203	4300	6503	SO:0001819	synonymous_variant	160897	exon6			TTCTACGCCTGCA	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.852G>A	13.37:g.95273447G>A		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	152	78	0.513158	NM_180989	A8K1D5	Silent	SNP	ENST00000376958.4	37	CCDS9472.1																																																																																			G|0.877;A|0.123	0.123	strong		0.423	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		A	95273447	G	A	95273447	2	1	23	1	0	0	0	0	0	0	0	1	6676	1074	38	1		1	GPR180	13	95273447	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6944959	95273447	19896431	3244	19700										
UGGT2	55757	hgsc.bcm.edu	37	chr13	96555149	96555149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttatctccagagtaaatagCtgtagcaatttcttcctttg	6	8	2	1	rs33949518	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:96555149C>T	ENST00000376747.3	-	21	2531	c.2461G>A	c.(2461-2463)Gct>Act	p.A821T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	821			A -> T (in dbSNP:rs33949518). {ECO:0000269|PubMed:10694380}.		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						GAGTAAATAGCTGTAGCAATT	0.328													C|||	576	0.115016	0.1399	0.1167	5008	,	,		17475	0.0526		0.1819	False		,,,				2504	0.0757				p.A821T		Atlas-SNP	.											.	UGGT2	127	.	0			c.G2461A						PASS	.	C	THR/ALA	604,3798	256.7+/-261.4	43,518,1640	93	101	99		2461	4.8	1	13	dbSNP_126	99	1397,7199	268.2+/-287.7	123,1151,3024	yes	missense	UGGT2	NM_020121.3	58	166,1669,4664	TT,TC,CC		16.2517,13.721,15.3947	benign	821/1517	96555149	2001,10997	2201	4298	6499	SO:0001583	missense	55757	exon21			AAATAGCTGTAGC	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.2461G>A	13.37:g.96555149C>T	ENSP00000365938:p.Ala821Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	88	49	0.556818	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	292	0.1336996336996337	77	0.1565040650406504	57	0.1574585635359116	25	0.043706293706293704	133	0.17546174142480211	C	12.92	2.081586	0.36758	0.13721	0.162517	ENSG00000102595	ENST00000376747	T	0.08634	3.07	5.66	4.81	0.61882	.	0.435762	0.25408	N	0.030896	T	0.00039	0.0001	M	0.76328	2.33	0.24946	P	0.99182671	B	0.20887	0.049	B	0.19946	0.027	T	0.28839	-1.0031	9	0.15952	T	0.53	-15.4287	12.3074	0.54910	0.1409:0.7379:0.1212:0.0	rs33949518;rs58131245;rs33949518	821	Q9NYU1	UGGG2_HUMAN	T	821	ENSP00000365938:A821T	ENSP00000365938:A821T	A	-	1	0	UGGT2	95353150	1.000000	0.71417	0.992000	0.48379	0.826000	0.46750	2.713000	0.47194	1.384000	0.46424	-0.172000	0.13284	GCT	C|0.858;T|0.142	0.142	strong		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		T	96555149	C	T	96555149	3	4	23	1	0	0	0	0	1	0	0	0	16939	797	28	2	2165	2	UGGT2	13	96555149	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1281702	96555149	18614729	3245	19701										
UGGT2	55757	hgsc.bcm.edu	37	chr13	96638651	96638651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggaatcataaactggagCggacattatttgagaagctg	11	5	1	1	rs12863903	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:96638651C>T	ENST00000376747.3	-	9	1037	c.967G>A	c.(967-969)Gct>Act	p.A323T	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_3'UTR|UGGT2_ENST00000397618.3_Missense_Mutation_p.A323T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	323			A -> T (in dbSNP:rs12863903). {ECO:0000269|PubMed:10694380}.		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						TAAACTGGAGCGGACATTATT	0.313													c|||	381	0.0760783	0.0166	0.1009	5008	,	,		15082	0.0337		0.1789	False		,,,				2504	0.0767				p.A323T		Atlas-SNP	.											.	UGGT2	127	.	0			c.G967A						PASS	.	C	THR/ALA	196,4210	121.7+/-159.2	4,188,2011	76	77	77		967	2.8	1	13	dbSNP_121	77	1389,7201	265.8+/-286.4	127,1135,3033	yes	missense	UGGT2	NM_020121.3	58	131,1323,5044	TT,TC,CC		16.17,4.4485,12.1961	benign	323/1517	96638651	1585,11411	2203	4295	6498	SO:0001583	missense	55757	exon9			CTGGAGCGGACAT	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.967G>A	13.37:g.96638651C>T	ENSP00000365938:p.Ala323Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	58	34	0.586207	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	208	0.09523809523809523	4	0.008130081300813009	54	0.14917127071823205	17	0.02972027972027972	133	0.17546174142480211	c	9.920	1.212009	0.22289	0.044485	0.1617	ENSG00000102595	ENST00000376747;ENST00000397618	T;T	0.44881	0.91;0.91	5.54	2.79	0.32731	.	0.332788	0.36591	N	0.002512	T	0.00039	0.0001	N	0.05414	-0.055	0.09310	P	0.9999999999876714	B;B;B	0.12630	0.003;0.003;0.006	B;B;B	0.08055	0.003;0.003;0.002	T	0.20075	-1.0286	9	0.16896	T	0.51	-13.5618	8.4809	0.33043	0.0:0.231:0.0:0.769	rs12863903;rs17268651;rs12863903	323;323;323	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	T	323	ENSP00000365938:A323T;ENSP00000380743:A323T	ENSP00000365938:A323T	A	-	1	0	UGGT2	95436652	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.673000	0.25203	0.906000	0.36621	-0.285000	0.09966	GCT	C|0.894;T|0.106	0.106	strong		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		T	96638651	C	T	96638651	3	4	23	1	0	0	0	0	1	0	0	0	16939	768	27	1	3707	1	UGGT2	13	96638651	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	83502	96638651	18531227	3246	19702										
IPO5	3843	hgsc.bcm.edu	37	chr13	98645253	98645253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcacttggaagcaactctAcagctaagtctaaaggtaaa	7	10	3	0	rs626716	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:98645253A>G	ENST00000490680.1	+	7	842	c.777A>G	c.(775-777)ctA>ctG	p.L259L	IPO5_ENST00000539640.1_Silent_p.L134L|IPO5_ENST00000261574.5_Silent_p.L277L			O00410	IPO5_HUMAN	importin 5	259					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						AAGCAACTCTACAGCTAAGTC	0.348													A|||	718	0.143371	0.1142	0.0303	5008	,	,		20955	0.3155		0.0457	False		,,,				2504	0.1861				p.L277L		Atlas-SNP	.											.	IPO5	90	.	0			c.A831G						PASS	.	A		436,3970	211.8+/-231.9	27,382,1794	116	110	112		831	-5.2	0.9	13	dbSNP_83	112	343,8257	117.0+/-176.6	4,335,3961	no	coding-synonymous	IPO5	NM_002271.4		31,717,5755	GG,GA,AA		3.9884,9.8956,5.9895		277/1116	98645253	779,12227	2203	4300	6503	SO:0001819	synonymous_variant	3843	exon10			AACTCTACAGCTA	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.777A>G	13.37:g.98645253A>G		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	38	0.452381	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		270	0.12362637362637363	59	0.11991869918699187	14	0.03867403314917127	163	0.28496503496503495	34	0.044854881266490766	A	10.48	1.362466	0.24684	0.098956	0.039884	ENSG00000065150	ENST00000469360	.	.	.	6.17	-5.19	0.02832	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.26224	-1.0109	3	.	.	.	-25.4394	10.7192	0.46030	0.4233:0.099:0.4777:0.0	rs626716;rs2230410;rs17301628;rs626716	.	.	.	C	261	.	.	Y	+	2	0	IPO5	97443254	0.985000	0.35326	0.902000	0.35471	0.988000	0.76386	0.264000	0.18497	-0.754000	0.04715	0.533000	0.62120	TAC	A|0.901;G|0.099	0.099	strong		0.348	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		G	98645253	A	G	98645253	2	3	23	1	0	0	0	0	0	0	0	1	7796	378	14	2		2	IPO5	13	98645253	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2006602	98645253	16524625	3247	19703										
DOCK9	23348	hgsc.bcm.edu	37	chr13	99575568	99575568	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcccacctcatctttgtcGacctcctcgtcaacttcata	3	16	4	0	rs12428661	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:99575568G>A	ENST00000376460.1	-	5	554	c.474C>T	c.(472-474)gtC>gtT	p.V158V	DOCK9_ENST00000442173.1_Silent_p.V158V|DOCK9_ENST00000448493.2_Silent_p.V170V|DOCK9_ENST00000339416.2_Silent_p.V159V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	159					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTTGTCGACCTCCTCGT	0.353													G|||	839	0.167532	0.0862	0.1729	5008	,	,		20251	0.2063		0.1899	False		,,,				2504	0.2106				p.V159V		Atlas-SNP	.											DOCK9_ENST00000448493,caecum,carcinoma,0,3	DOCK9	311	3	0			c.C477T						PASS	.	G	,,,	333,3457		13,307,1575	150	147	148		474,477,474,477	-7.9	0.3	13	dbSNP_120	148	1329,6901		104,1121,2890	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DOCK9	NM_001130048.1,NM_001130049.1,NM_001130050.1,NM_015296.2	,,,	117,1428,4465	AA,AG,GG		16.1482,8.7863,13.827	,,,	158/2069,159/1255,158/1254,159/2070	99575568	1662,10358	1895	4115	6010	SO:0001819	synonymous_variant	23348	exon5			TTTGTCGACCTCC	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.474C>T	13.37:g.99575568G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	100	55	0.55	NM_001130049	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	CCDS45062.1																																																																																			G|0.826;A|0.174	0.174	strong		0.353	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		A	99575568	G	A	99575568	2	1	23	1	0	0	0	0	0	0	0	1	4694	1045	37	1		1	DOCK9	13	99575568	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	930315	99575568	15594310	3248	19704										
GPR18	2841	hgsc.bcm.edu	37	chr13	99907341	99907341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccccagggattgtaactGttctcccccgttcccagcat	8	16	1	0	rs3742130	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:99907341G>A	ENST00000340807.3	-	3	1342	c.786C>T	c.(784-786)aaC>aaT	p.N262N	GPR18_ENST00000397473.2_Silent_p.N262N|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Silent_p.N262N|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	262					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GATTGTAACTGTTCTCCCCCG	0.498													G|||	543	0.108427	0.0401	0.1499	5008	,	,		19549	0.0595		0.2217	False		,,,				2504	0.1053				p.N262N		Atlas-SNP	.											.	GPR18	23	.	0			c.C786T						PASS	.	G	,,,	362,4044	184.7+/-212.0	13,336,1854	193	148	163		786,,786,	0.1	0	13	dbSNP_107	163	1891,6709	336.9+/-322.1	223,1445,2632	no	coding-synonymous,intron,coding-synonymous,intron	GPR18,UBAC2	NM_001098200.1,NM_001144072.1,NM_005292.3,NM_177967.3	,,,	236,1781,4486	AA,AG,GG		21.9884,8.2161,17.3228	,,,	262/332,,262/332,	99907341	2253,10753	2203	4300	6503	SO:0001819	synonymous_variant	2841	exon2			GTAACTGTTCTCC	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.786C>T	13.37:g.99907341G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	180	88	0.488889	NM_001098200	Q6GTM3|Q96HI6|Q9H2L2	Silent	SNP	ENST00000340807.3	37	CCDS9491.1																																																																																			G|0.849;A|0.151	0.151	strong		0.498	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			A	99907341	G	A	99907341	2	1	23	1	0	0	0	0	0	0	0	1	6675	1368	48	2		2	GPR18	13	99907341	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	331773	99907341	15262537	3249	19705										
SLC10A2	6555	hgsc.bcm.edu	37	chr13	103705050	103705050	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaacaacgagagaaaccaGagatgtacctaaagatgaca	10	7	0	4	rs41281678	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:103705050G>A	ENST00000245312.3	-	3	1101	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	169					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AGAGAAACCAGAGATGTACCT	0.403													G|||	106	0.0211661	0.0484	0.013	5008	,	,		17622	0.0		0.0229	False		,,,				2504	0.0102				p.L169L		Atlas-SNP	.											.	SLC10A2	67	.	0			c.C505T	GRCh37	CM014220	SLC10A2	M	rs41281678	PASS	.	G		161,4245	111.2+/-149.4	2,157,2044	160	145	150		505	0.2	1	13	dbSNP_127	150	212,8388	91.1+/-153.3	0,212,4088	no	coding-synonymous	SLC10A2	NM_000452.2		2,369,6132	AA,AG,GG		2.4651,3.6541,2.8679		169/349	103705050	373,12633	2203	4300	6503	SO:0001819	synonymous_variant	6555	exon3			AAACCAGAGATGT	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.505C>T	13.37:g.103705050G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	124	51	0.41129	NM_000452	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																			G|0.972;A|0.028	0.028	strong		0.403	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			A	103705050	G	A	103705050	2	1	23	1	0	0	0	0	0	0	0	1	14374	933	33	2		2	SLC10A2	13	103705050	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3797709	103705050	11464828	3250	19706										
LIG4	3981	hgsc.bcm.edu	37	chr13	108863591	108863591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggaacgtgagatgcaacaGtttgtgaagtttgtgaggca	14	4	0	3	rs1805388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:108863591G>A	ENST00000356922.4	-	2	298	c.26C>T	c.(25-27)aCt>aTt	p.T9I	LIG4_ENST00000405925.1_Missense_Mutation_p.T9I|LIG4_ENST00000442234.1_Missense_Mutation_p.T9I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	9			T -> I (associated with resistance to multiple myeloma; dbSNP:rs1805388). {ECO:0000269|PubMed:12471202}.		cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGATGCAACAGTTTGTGAAGT	0.353								Non-homologous end-joining					G|||	730	0.145767	0.0893	0.2161	5008	,	,		17385	0.2103		0.163	False		,,,				2504	0.0879				p.T9I		Atlas-SNP	.											.	LIG4	91	.	0			c.C26T	GRCh37	CM023643	LIG4	M	rs1805388	PASS	.	G	ILE/THR,ILE/THR,ILE/THR	450,3928		19,412,1758	30	30	30	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	26,26,26	4.1	0.7	13	dbSNP_92	30	1310,7160		112,1086,3037	yes	missense,missense,missense	LIG4	NM_001098268.1,NM_002312.3,NM_206937.1	89,89,89	131,1498,4795	AA,AG,GG		15.4664,10.2787,13.6986	possibly-damaging,possibly-damaging,possibly-damaging	9/912,9/912,9/912	108863591	1760,11088	2189	4235	6424	SO:0001583	missense	3981	exon3			GCAACAGTTTGTG	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.26C>T	13.37:g.108863591G>A	ENSP00000349393:p.Thr9Ile	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	80	41	0.5125	NM_206937	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	335	0.1533882783882784	37	0.07520325203252033	66	0.18232044198895028	108	0.1888111888111888	124	0.16358839050131926	G	14.90	2.672135	0.47781	0.102787	0.154664	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.19669	2.13;2.13;2.13	5.82	4.09	0.47781	DNA ligase, ATP-dependent, N-terminal (2);	0.487586	0.24061	N	0.041916	T	0.00012	0.0000	N	0.08118	0	0.30067	P	0.810381	P	0.35780	0.52	B	0.32342	0.144	T	0.33343	-0.9872	9	0.49607	T	0.09	.	10.8846	0.46960	0.1496:0.0:0.8504:0.0	rs1805388;rs17379563;rs52823564;rs61630348;rs1805388	9	P49917	DNLI4_HUMAN	I	9	ENSP00000385955:T9I;ENSP00000402030:T9I;ENSP00000349393:T9I	ENSP00000349393:T9I	T	-	2	0	LIG4	107661592	1.000000	0.71417	0.730000	0.30809	0.908000	0.53690	4.882000	0.63121	0.814000	0.34374	0.643000	0.83706	ACT	G|0.856;N|0.000	.	strong		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		A	108863591	G	A	108863591	3	1	23	1	0	0	0	0	1	0	0	0	8783	1029	36	2	2713	2	LIG4	13	108863591	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5158541	108863591	6306287	3251	19707										
LIG4	3981	hgsc.bcm.edu	37	chr13	108863609	108863609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtttgtgaagtttgtgagGcagccatcaaagcggtgatg	14	6	1	3	rs1805389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:108863609G>A	ENST00000356922.4	-	2	280	c.8C>T	c.(7-9)gCc>gTc	p.A3V	LIG4_ENST00000405925.1_Missense_Mutation_p.A3V|LIG4_ENST00000442234.1_Missense_Mutation_p.A3V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	3			A -> V (associated with resistance to multiple myeloma; dbSNP:rs1805389). {ECO:0000269|PubMed:12471202}.		cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGTTTGTGAGGCAGCCATCAA	0.328								Non-homologous end-joining					G|||	271	0.0541134	0.0015	0.0793	5008	,	,		17139	0.1002		0.0586	False		,,,				2504	0.0552				p.A3V		Atlas-SNP	.											.	LIG4	91	.	0			c.C8T	GRCh37	CM023642	LIG4	M	rs1805389	PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA	53,4315		0,53,2131	27	28	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8,8,8	5.8	1	13	dbSNP_92	27	429,7989		10,409,3790	yes	missense,missense,missense	LIG4	NM_001098268.1,NM_002312.3,NM_206937.1	64,64,64	10,462,5921	AA,AG,GG		5.0962,1.2134,3.7697	benign,benign,benign	3/912,3/912,3/912	108863609	482,12304	2184	4209	6393	SO:0001583	missense	3981	exon3			TGTGAGGCAGCCA	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.8C>T	13.37:g.108863609G>A	ENSP00000349393:p.Ala3Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_206937	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	124	0.056776556776556776	4	0.008130081300813009	21	0.058011049723756904	54	0.0944055944055944	45	0.059366754617414245	G	15.10	2.732522	0.48939	0.012134	0.050962	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61980	0.06;0.06;0.06	5.82	5.82	0.92795	DNA ligase, ATP-dependent, N-terminal (1);	0.448521	0.24037	N	0.042138	T	0.02267	0.0070	N	0.08118	0	0.38382	P	0.054835999999999996	B	0.32573	0.376	B	0.28465	0.09	T	0.29458	-1.0011	9	0.59425	D	0.04	.	19.0813	0.93182	0.0:0.0:1.0:0.0	rs1805389;rs1805389	3	P49917	DNLI4_HUMAN	V	3	ENSP00000385955:A3V;ENSP00000402030:A3V;ENSP00000349393:A3V	ENSP00000349393:A3V	A	-	2	0	LIG4	107661610	0.991000	0.36638	0.997000	0.53966	0.436000	0.31835	4.221000	0.58574	2.761000	0.94854	0.643000	0.83706	GCC	G|0.955;A|0.045	0.045	strong		0.328	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		A	108863609	G	A	108863609	3	1	23	1	0	0	0	0	1	0	0	0	8783	1203	42	2	2731	2	LIG4	13	108863609	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18	108863609	6306269	3252	19708										
MYO16	23026	hgsc.bcm.edu	37	chr13	109777503	109777503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcacctgcttcagagaatAagcatcagacaacaagaggt	9	10	2	3	rs157024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:109777503A>G	ENST00000357550.2	+	29	3554	c.3513A>G	c.(3511-3513)atA>atG	p.I1171M	MYO16_ENST00000457511.2_Missense_Mutation_p.I683M|MYO16_ENST00000356711.2_Missense_Mutation_p.I1171M	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)			TTCAGAGAATAAGCATCAGAC	0.423													G|||	665	0.132788	0.093	0.1902	5008	,	,		19256	0.1141		0.1441	False		,,,				2504	0.1534				p.I1193M		Atlas-SNP	.											.	MYO16	285	.	0			c.A3579G						PASS	.	G	MET/ILE,MET/ILE	474,3932	782.5+/-414.6	17,440,1746	71	69	69		3579,3513	3.7	1	13	dbSNP_79	69	1189,7411	764.2+/-407.6	79,1031,3190	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	10,10	96,1471,4936	GG,GA,AA		13.8256,10.7581,12.7864	benign,benign	1193/1881,1171/1859	109777503	1663,11343	2203	4300	6503	SO:0001583	missense	23026	exon30			GAGAATAAGCATC		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.3513A>G	13.37:g.109777503A>G	ENSP00000350160:p.Ile1171Met	Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	301	135	0.448505	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	283	0.1295787545787546	43	0.08739837398373984	59	0.16298342541436464	75	0.13111888111888112	106	0.13984168865435356	G	3.681	-0.065551	0.07273	0.107581	0.138256	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95518	-3.73;-3.73;-3.73	5.51	3.68	0.42216	.	0.277746	0.24573	N	0.037361	T	0.01592	0.0051	N	0.02539	-0.55	0.54753	P	1.3000000000040757E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49244	-0.8960	8	.	.	.	.	9.7733	0.40603	0.2358:0.0:0.7642:0.0	rs157024;rs17393560;rs52818809;rs56579413;rs57240489;rs157024	683;1171	F8W883;Q9Y6X6	.;MYO16_HUMAN	M	1171;1171;683	ENSP00000349145:I1171M;ENSP00000350160:I1171M;ENSP00000401633:I683M	.	I	+	3	3	MYO16	108575504	1.000000	0.71417	0.976000	0.42696	0.311000	0.27955	2.054000	0.41335	0.247000	0.21414	-0.699000	0.03677	ATA	A|0.869;G|0.131	0.131	strong		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		G	109777503	A	G	109777503	3	3	23	1	0	0	0	0	1	0	0	0	10064	352	13	2	3627	2	MYO16	13	109777503	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	913894	109777503	5392375	3253	19709										
COL4A1	1282	hgsc.bcm.edu	37	chr13	110850842	110850842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggctgcccagggggcccAggggaaccaggaggacccgg	18	14	0	0	rs995224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:110850842A>G	ENST00000375820.4	-	21	1378	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	COL4A1_ENST00000543140.1_Silent_p.P419P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	419	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGCCCAGGGGAACCAG	0.592													a|||	1034	0.20647	0.2073	0.3732	5008	,	,		16322	0.0546		0.2664	False		,,,				2504	0.182				p.P419P		Atlas-SNP	.											.	COL4A1	372	.	0			c.T1257C						PASS	.			950,3456	326.9+/-299.8	107,736,1360	45	53	50		1257	-6.4	0	13	dbSNP_86	50	2334,6266	360.6+/-332.0	332,1670,2298	no	coding-synonymous	COL4A1	NM_001845.4		439,2406,3658	GG,GA,AA		27.1395,21.5615,25.2499		419/1670	110850842	3284,9722	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon21			GGGCCCAGGGGAA	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1257T>C	13.37:g.110850842A>G		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	104	43	0.413462	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			T|0.000;G|0.240;C|0.000;A|0.760	0.240	strong		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			G	110850842	A	G	110850842	2	3	23	1	0	0	0	0	0	0	0	1	3689	175	7	3		3	COL4A1	13	110850842	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1073339	110850842	4319036	3254	19710										
COL4A2	1284	hgsc.bcm.edu	37	chr13	111160304	111160304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcgggctcctgcctggcGcggttcagcaccatgccctt	13	16	1	0	rs391859	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:111160304G>A	ENST00000360467.5	+	47	4923	c.4617G>A	c.(4615-4617)gcG>gcA	p.A1539A	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1539	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGCCTGGCGCGGTTCAGCA	0.632													G|||	505	0.100839	0.0711	0.1974	5008	,	,		17295	0.128		0.0915	False		,,,				2504	0.0542				p.A1539A		Atlas-SNP	.											.	COL4A2	178	.	0			c.G4617A						PASS	.	G		309,3977		14,281,1848	66	72	70		4617	-9.9	0	13	dbSNP_80	70	807,7701		39,729,3486	no	coding-synonymous	COL4A2	NM_001846.2		53,1010,5334	AA,AG,GG		9.4852,7.2095,8.7228		1539/1713	111160304	1116,11678	2143	4254	6397	SO:0001819	synonymous_variant	1284	exon47			CCTGGCGCGGTTC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4617G>A	13.37:g.111160304G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	156	80	0.512821	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																			G|0.890;A|0.110	0.110	strong		0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111160304	G	A	111160304	2	1	23	1	0	0	0	0	0	0	0	1	3690	1074	38	1		1	COL4A2	13	111160304	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	309462	111160304	4009574	3255	19711										
ARHGEF7	8874	hgsc.bcm.edu	37	chr13	111870037	111870037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttttaggacatgaccgaTaatagcaacaatcaactggt	7	10	1	1	rs2296354	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:111870037T>C	ENST00000375741.2	+	6	793	c.543T>C	c.(541-543)gaT>gaC	p.D181D	ARHGEF7_ENST00000375723.1_Silent_p.D3D|ARHGEF7_ENST00000375736.4_Silent_p.D3D|ARHGEF7_ENST00000370623.3_Silent_p.D88D|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Silent_p.D160D|ARHGEF7_ENST00000375737.5_Silent_p.D78D|ARHGEF7_ENST00000218789.5_Silent_p.D3D|ARHGEF7_ENST00000426073.2_Silent_p.D3D|ARHGEF7_ENST00000375739.2_Silent_p.D131D	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	181					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGACCGATAATAGCAACA	0.388													T|||	1246	0.248802	0.025	0.1225	5008	,	,		18731	0.6825		0.174	False		,,,				2504	0.271				p.D181D		Atlas-SNP	.											.	ARHGEF7	157	.	0			c.T543C						PASS	.	T	,,,,	223,4183	134.5+/-170.7	3,217,1983	115	109	111		543,393,9,9,480	-3.1	0.4	13	dbSNP_100	111	1437,7163	276.7+/-292.4	115,1207,2978	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF7	NM_001113511.1,NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2	,,,,	118,1424,4961	CC,CT,TT		16.7093,5.0613,12.7633	,,,,	181/804,131/754,3/647,3/647,160/783	111870037	1660,11346	2203	4300	6503	SO:0001819	synonymous_variant	8874	exon6			GACCGATAATAGC	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.543T>C	13.37:g.111870037T>C		Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	239	114	0.476987	NM_001113511	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1																																																																																			T|0.807;C|0.193	0.193	strong		0.388	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		C	111870037	T	C	111870037	2	2	23	1	0	0	0	0	0	0	0	1	911	1403	49	2		2	ARHGEF7	13	111870037	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	709733	111870037	3299841	3256	19712										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113508839	113508839	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcctgaccagagacaacctGtccgggtaggcagcgcgtcc	13	14	0	2	rs9549573	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:113508839G>C	ENST00000487903.1	+	19	2326	c.2238G>C	c.(2236-2238)ctG>ctC	p.L746L	ATP11A_ENST00000283558.8_Silent_p.L746L|ATP11A_ENST00000375645.3_Silent_p.L746L|ATP11A_ENST00000375630.2_Silent_p.L746L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	746					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GAGACAACCTGTCCGGGTAGG	0.652													C|||	3487	0.696286	0.9644	0.7262	5008	,	,		15382	0.6567		0.6044	False		,,,				2504	0.4479				p.L746L		Atlas-SNP	.											.	ATP11A	225	.	0			c.G2238C						PASS	.	C	,	4036,368		1849,338,15	38	39	38		2238,2238	2.8	0.8	13	dbSNP_119	38	5293,3307		1625,2043,632	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	3474,2381,647	CC,CG,GG		38.4535,8.356,28.2605	,	746/1135,746/1192	113508839	9329,3675	2202	4300	6502	SO:0001819	synonymous_variant	23250	exon19			CAACCTGTCCGGG	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2238G>C	13.37:g.113508839G>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	48	26	0.541667	NM_032189	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	1540	0.7051282051282052	473	0.9613821138211383	258	0.712707182320442	356	0.6223776223776224	453	0.5976253298153035	C	0.639	-0.814080	0.02798	0.91644	0.615465	ENSG00000068650	ENST00000418678	.	.	.	4.66	2.84	0.33178	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999997	.	.	.	.	.	.	T	0.16897	-1.0387	3	.	.	.	.	10.7428	0.46162	0.0:0.5688:0.3611:0.0701	rs9549573;rs60929322;rs9549573	.	.	.	S	721	.	.	C	+	2	0	ATP11A	112556840	1.000000	0.71417	0.764000	0.31436	0.011000	0.07611	2.234000	0.43035	0.391000	0.25143	-0.223000	0.12442	TGT	G|0.292;C|0.708	0.708	strong		0.652	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		C	113508839	G	C	113508839	2	2	23	1	0	0	0	0	0	0	0	1	1119	1364	48	4		4	ATP11A	13	113508839	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1638802	113508839	1661039	3257	19713										
ATP11A	23250	hgsc.bcm.edu	37	chr13	113527967	113527967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgttctacgttgtcttttcGcttctctggggaggagtgat	12	8	3	1	rs1320525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:113527967G>A	ENST00000487903.1	+	27	3226	c.3138G>A	c.(3136-3138)tcG>tcA	p.S1046S	ATP11A_ENST00000283558.8_Silent_p.S1046S|ATP11A_ENST00000375645.3_Silent_p.S1046S|ATP11A_ENST00000375630.2_Silent_p.S1046S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1046					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTGTCTTTTCGCTTCTCTGGG	0.393											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1877	0.3748	0.298	0.3761	5008	,	,		21339	0.4742		0.3658	False		,,,				2504	0.3845				p.S1046S		Atlas-SNP	.											.	ATP11A	225	.	0			c.G3138A						PASS	.	G	,	1360,3046	451.2+/-349.6	220,920,1063	205	169	181		3138,3138	2.5	1	13	dbSNP_88	181	3364,5236	499.4+/-375.0	674,2016,1610	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	894,2936,2673	AA,AG,GG		39.1163,30.867,36.3217	,	1046/1135,1046/1192	113527967	4724,8282	2203	4300	6503	SO:0001819	synonymous_variant	23250	exon27			CTTTTCGCTTCTC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3138G>A	13.37:g.113527967G>A		Somatic	218	0	0	1451	WXS	Illumina HiSeq	Phase_I	224	103	0.459821	NM_032189	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1																																																																																			G|0.623;A|0.377	0.377	strong		0.393	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113527967	G	A	113527967	2	1	23	1	0	0	0	0	0	0	0	1	1119	1074	38	1		1	ATP11A	13	113527967	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19128	113527967	1641911	3258	19714										
MCF2L	23263	hgsc.bcm.edu	37	chr13	113739226	113739226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaagatttccagatctaTgagaagtactgtcagaacaa	9	6	2	4	rs2281723	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:113739226T>C	ENST00000375608.3	+	20	2230	c.2172T>C	c.(2170-2172)taT>taC	p.Y724Y	MCF2L_ENST00000375597.4_Silent_p.Y692Y|MCF2L_ENST00000442652.2_Silent_p.Y724Y|MCF2L_ENST00000375601.3_Silent_p.Y698Y|MCF2L_ENST00000535094.2_Silent_p.Y694Y|MCF2L_ENST00000421756.1_Silent_p.Y698Y|MCF2L_ENST00000434480.2_Silent_p.Y700Y|MCF2L_ENST00000375604.2_Silent_p.Y751Y|MCF2L_ENST00000423482.2_Silent_p.Y692Y|MCF2L_ENST00000397030.1_Silent_p.Y727Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	724	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGATCTATGAGAAGTACT	0.582													c|||	562	0.11222	0.0764	0.0865	5008	,	,		17663	0.2649		0.0656	False		,,,				2504	0.0695				p.Y694Y		Atlas-SNP	.											.	MCF2L	182	.	0			c.T2082C						PASS	.	C	,	306,4100	797.5+/-415.4	10,286,1907	125	119	121		2082,2076	-3.1	1	13	dbSNP_100	121	607,7993	791.9+/-407.5	14,579,3707	yes	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	24,865,5614	CC,CT,TT		7.0581,6.9451,7.0198	,	694/1126,692/1124	113739226	913,12093	2203	4300	6503	SO:0001819	synonymous_variant	23263	exon19			GATCTATGAGAAG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2172T>C	13.37:g.113739226T>C		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_001112732	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37		257	0.11767399267399267	43	0.08739837398373984	32	0.08839779005524862	135	0.23601398601398602	47	0.06200527704485488	C	9.298	1.052343	0.19827	0.069451	0.070581	ENSG00000126217	ENST00000397017	.	.	.	4.64	-3.09	0.05331	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2654	0.73657	0.0:0.1181:0.0:0.8819	rs2281723;rs17692545;rs2281723	.	.	.	R	355	.	.	X	+	1	0	MCF2L	112787227	0.995000	0.38212	0.975000	0.42487	0.824000	0.46624	0.321000	0.19558	-0.859000	0.04105	-0.711000	0.03637	TGA	T|0.904;C|0.096	0.096	strong		0.582	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			C	113739226	T	C	113739226	2	2	23	1	0	0	0	0	0	0	0	1	9379	1471	51	2		2	MCF2L	13	113739226	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	211259	113739226	1430652	3259	19715										
CUL4A	8451	hgsc.bcm.edu	37	chr13	113909008	113909008	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaggccttctcttccaggGgaagaaggaattccaggtgt	13	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:113909008G>A	ENST00000375440.4	+	17	1838	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	CUL4A_ENST00000326335.4_Splice_Site_p.G485E|CUL4A_ENST00000375441.3_Splice_Site_p.G485E|CUL4A_ENST00000451881.1_Splice_Site_p.G485E	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	585					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTCTTCCAGGGGAAGAAGGAA	0.443																																					p.G585E		Atlas-SNP	.											.	CUL4A	50	.	0			c.G1754A						PASS	.						138	130	133					13																	113909008		2203	4300	6503	SO:0001630	splice_region_variant	8451	exon17			TCCAGGGGAAGAA	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1753-1G>A	13.37:g.113909008G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598067	0.66332	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.3	5.3	0.74995	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.61703	1.905	0.80722	D	1	P;P	0.42161	0.772;0.772	B;B	0.41036	0.346;0.346	T	0.74077	-0.3781	10	0.46703	T	0.11	-31.6571	12.6463	0.56735	0.0762:0.0:0.9238:0.0	.	585;585	Q13619;A8MSH7	CUL4A_HUMAN;.	E	485;485;485;585	ENSP00000364590:G485E;ENSP00000389118:G485E;ENSP00000322132:G485E;ENSP00000364589:G585E	ENSP00000322132:G485E	G	+	2	0	CUL4A	112957009	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	7.668000	0.83897	2.627000	0.88993	0.561000	0.74099	GGG	.	.	none		0.443	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	Missense_Mutation	A	113909008	G	A	113909008	5	1	23	1	0	0	0	0	0	0	1	0	4057	1246	43	2	1820	2	CUL4A	13	113909008	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	169782	113909008	1260870	3260	19716										
CDC16	8881	hgsc.bcm.edu	37	chr13	115002305	115002305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacatctattggttggctcaGtgtctttacctgacagcaca	9	10	3	1	rs8002514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115002305G>A	ENST00000356221.3	+	3	243	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000360383.3_Silent_p.Q45Q|CDC16_ENST00000252457.5_Silent_p.Q44Q			Q13042	CDC16_HUMAN	cell division cycle 16	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GGTTGGCTCAGTGTCTTTACC	0.413													A|||	1711	0.341653	0.5825	0.2767	5008	,	,		14511	0.1587		0.2584	False		,,,				2504	0.3364				p.Q45Q		Atlas-SNP	.											.	CDC16	50	.	0			c.G135A						PASS	.	A	,	2277,2129	579.4+/-384.9	577,1123,503	118	116	117		135,135	2.4	1	13	dbSNP_116	117	1991,6609	722.8+/-406.4	230,1531,2539	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	807,2654,3042	AA,AG,GG		23.1512,48.3205,32.8156	,	45/621,45/621	115002305	4268,8738	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon3			GGCTCAGTGTCTT	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.135G>A	13.37:g.115002305G>A		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			G|0.678;A|0.322	0.322	strong		0.413	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		A	115002305	G	A	115002305	2	1	23	1	0	0	0	0	0	0	0	1	3058	1020	36	2		2	CDC16	13	115002305	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1093297	115002305	167573	3261	19717										
CDC16	8881	hgsc.bcm.edu	37	chr13	115004914	115004914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaaaaatacttgaaggaCgaaagtggcttcaaagatcc	9	6	1	3	rs2296971	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115004914C>T	ENST00000356221.3	+	5	438	c.330C>T	c.(328-330)gaC>gaT	p.D110D	CDC16_ENST00000375312.3_Silent_p.D16D|CDC16_ENST00000252458.6_Silent_p.D16D|CDC16_ENST00000375310.1_Silent_p.D16D|CDC16_ENST00000375308.1_Silent_p.D16D|CDC16_ENST00000360383.3_Silent_p.D110D|CDC16_ENST00000252457.5_Silent_p.D109D			Q13042	CDC16_HUMAN	cell division cycle 16	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACTTGAAGGACGAAAGTGGCT	0.453													T|||	2225	0.444289	0.8464	0.3516	5008	,	,		17472	0.2024		0.3191	False		,,,				2504	0.3446				p.D110D		Atlas-SNP	.											.	CDC16	50	.	0			c.C330T						PASS	.	T	,	3299,1107	398.8+/-331.0	1247,805,151	50	56	54		330,330	3.3	1	13	dbSNP_100	54	2451,6149	697.3+/-404.9	369,1713,2218	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	1616,2518,2369	TT,TC,CC		28.5,25.1248,44.2104	,	110/621,110/621	115004914	5750,7256	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon5			GAAGGACGAAAGT	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.330C>T	13.37:g.115004914C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	81	76	0.938272	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			C|0.562;T|0.438	0.438	strong		0.453	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115004914	C	T	115004914	2	4	23	1	0	0	0	0	0	0	0	1	3058	535	19	1		1	CDC16	13	115004914	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2609	115004914	164964	3262	19718										
CDC16	8881	hgsc.bcm.edu	37	chr13	115004935	115004935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagtggcttcaaagatccTtccagcgactgggaaatgtc	11	9	1	1	rs2296970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115004935T>C	ENST00000356221.3	+	5	459	c.351T>C	c.(349-351)ccT>ccC	p.P117P	CDC16_ENST00000375312.3_Silent_p.P23P|CDC16_ENST00000252458.6_Silent_p.P23P|CDC16_ENST00000375310.1_Silent_p.P23P|CDC16_ENST00000375308.1_Silent_p.P23P|CDC16_ENST00000360383.3_Silent_p.P117P|CDC16_ENST00000252457.5_Silent_p.P116P			Q13042	CDC16_HUMAN	cell division cycle 16	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCAAAGATCCTTCCAGCGACT	0.453													C|||	2212	0.441693	0.8366	0.3516	5008	,	,		17862	0.2024		0.3191	False		,,,				2504	0.3446				p.P117P		Atlas-SNP	.											.	CDC16	50	.	0			c.T351C						PASS	.	C	,	3269,1137	400.4+/-331.6	1229,811,163	43	48	46		351,351	2.6	1	13	dbSNP_100	46	2445,6155	694.4+/-404.7	368,1709,2223	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	1597,2520,2386	CC,CT,TT		28.4302,25.8057,43.9336	,	117/621,117/621	115004935	5714,7292	2203	4300	6503	SO:0001819	synonymous_variant	8881	exon5			AGATCCTTCCAGC	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.351T>C	13.37:g.115004935T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	62	60	0.967742	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			T|0.563;C|0.437	0.437	strong		0.453	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		C	115004935	T	C	115004935	2	2	23	1	0	0	0	0	0	0	0	1	3058	1596	56	3		3	CDC16	13	115004935	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	21	115004935	164943	3263	19719										
CDC16	8881	hgsc.bcm.edu	37	chr13	115030714	115030714	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgattctgaagcttatatTggtaagataatcgttattct	9	4	2	3	rs8809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115030714T>C	ENST00000356221.3	+	17	1710	c.1602T>C	c.(1600-1602)atT>atC	p.I534I	CDC16_ENST00000375312.3_Splice_Site_p.I389I|CDC16_ENST00000252458.6_Splice_Site_p.I389I|CDC16_ENST00000375310.1_Splice_Site_p.I440I|CDC16_ENST00000375308.1_Splice_Site_p.I440I|CDC16_ENST00000360383.3_Splice_Site_p.I534I|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252457.5_Splice_Site_p.I533I			Q13042	CDC16_HUMAN	cell division cycle 16	534					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGCTTATATTGGTAAGATAA	0.358													C|||	1850	0.369409	0.6868	0.2853	5008	,	,		19363	0.1567		0.2565	False		,,,				2504	0.3354				p.I534I		Atlas-SNP	.											.	CDC16	50	.	0			c.T1602C						PASS	.	C	,	2645,1761	524.3+/-371.3	796,1053,354	283	264	270		1602,1602	-4.7	0.7	13	dbSNP_116	270	1962,6638	724.1+/-406.5	227,1508,2565	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	CDC16	NM_001078645.1,NM_003903.3	,	1023,2561,2919	CC,CT,TT		22.814,39.9682,35.4221	,	534/621,534/621	115030714	4607,8399	2203	4300	6503	SO:0001630	splice_region_variant	8881	exon17			TTATATTGGTAAG	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1603+1T>C	13.37:g.115030714T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	142	66	0.464789	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																			T|0.661;C|0.339	0.339	strong		0.358	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	Silent	C	115030714	T	C	115030714	5	2	23	1	0	0	0	0	0	0	1	0	3058	1826	63	2	1668	2	CDC16	13	115030714	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	25779	115030714	139164	3264	19720										
UPF3A	65110	hgsc.bcm.edu	37	chr13	115047305	115047305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaacctcgcgaggagaagaGgacggccctgagcaaggtgg	16	10	0	3	rs3752105	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115047305G>A	ENST00000375299.3	+	1	247	c.191G>A	c.(190-192)aGg>aAg	p.R64K	UPF3A_ENST00000351487.5_Missense_Mutation_p.R64K	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	64			R -> K (in dbSNP:rs3752105).		gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GAGGAGAAGAGGACGGCCCTG	0.721													g|||	1524	0.304313	0.5416	0.17	5008	,	,		6771	0.1032		0.2584	False		,,,				2504	0.3333				p.R64K		Atlas-SNP	.											UPF3A,NS,carcinoma,0,1	UPF3A	47	1	0			c.G191A						PASS	.		LYS/ARG,LYS/ARG	1665,2487		352,961,763	6	7	6		191,191	0.4	0.3	13	dbSNP_107	6	1559,6677		178,1203,2737	yes	missense,missense	UPF3A	NM_023011.3,NM_080687.2	26,26	530,2164,3500	AA,AG,GG		18.9291,40.1012,26.0252	benign,benign	64/477,64/444	115047305	3224,9164	2076	4118	6194	SO:0001583	missense	65110	exon1			AGAAGAGGACGGC	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.191G>A	13.37:g.115047305G>A	ENSP00000364448:p.Arg64Lys	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	103	50	0.485437	NM_080687	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	596	0.27289377289377287	268	0.5447154471544715	69	0.19060773480662985	67	0.11713286713286714	192	0.2532981530343008	g	0.059	-1.228239	0.01518	0.401012	0.189291	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.61980	0.06;0.06	3.1	0.383	0.16239	Regulator of nonsense-mediated decay, UPF3 (1);	0.193157	0.44902	N	0.000402	T	0.00012	0.0000	N	0.00841	-1.15	0.80722	P	0.0	B;B;B	0.18461	0.001;0.004;0.028	B;B;B	0.18263	0.006;0.006;0.021	T	0.45833	-0.9234	8	.	.	.	-6.5893	7.2758	0.26283	0.425:0.0:0.575:0.0	rs3752105	64;64;64	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	K	64	ENSP00000364448:R64K;ENSP00000329592:R64K	.	R	+	2	0	UPF3A	114065407	0.085000	0.21516	0.350000	0.25708	0.233000	0.25261	0.005000	0.13129	0.041000	0.15688	0.479000	0.44913	AGG	G|0.728;A|0.272	0.272	strong		0.721	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			A	115047305	G	A	115047305	3	1	23	1	0	0	0	0	1	0	0	0	17002	1000	35	2	193	2	UPF3A	13	115047305	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16591	115047305	122573	3265	19721										
UPF3A	65110	hgsc.bcm.edu	37	chr13	115064423	115064423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaatcctgtgcccccggtGcagtcgtaaaagccaggccc	12	14	0	0	rs3752107	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115064423G>A	ENST00000375299.3	+	8	1011	c.955G>A	c.(955-957)Gca>Aca	p.A319T	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.A286T	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	319					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TGCCCCCGGTGCAGTCGTAAA	0.547													G|||	273	0.0545128	0.0136	0.0389	5008	,	,		17352	0.0357		0.0746	False		,,,				2504	0.1196				p.A319T		Atlas-SNP	.											UPF3A,colon,carcinoma,0,1	UPF3A	47	1	0			c.G955A						scavenged	.	G	THR/ALA,THR/ALA	93,4313	75.2+/-113.4	1,91,2111	53	51	52		955,856	-1.2	0	13	dbSNP_107	52	529,8071	147.1+/-202.6	19,491,3790	no	missense,missense	UPF3A	NM_023011.3,NM_080687.2	58,58	20,582,5901	AA,AG,GG		6.1512,2.1108,4.7824	benign,benign	319/477,286/444	115064423	622,12384	2203	4300	6503	SO:0001583	missense	65110	exon8			CCCGGTGCAGTCG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.955G>A	13.37:g.115064423G>A	ENSP00000364448:p.Ala319Thr	Somatic	382	3	0.0078534		WXS	Illumina HiSeq	Phase_I	371	158	0.425876	NM_023011	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	110	0.05036630036630037	11	0.022357723577235773	15	0.04143646408839779	26	0.045454545454545456	58	0.07651715039577836	G	4.682	0.126748	0.08931	0.021108	0.061512	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.80909	-1.43;1.64	4.08	-1.17	0.09648	.	0.751533	0.12508	N	0.462684	T	0.07773	0.0195	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03423	-1.1038	9	.	.	.	-1.1725	10.6354	0.45563	0.2261:0.0:0.7739:0.0	rs3752107;rs9525320	286;319	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	T	319;286;118	ENSP00000364448:A319T;ENSP00000329592:A286T	.	A	+	1	0	UPF3A	114082525	0.302000	0.24454	0.000000	0.03702	0.000000	0.00434	2.210000	0.42816	-0.212000	0.10109	-1.000000	0.02509	GCA	G|0.949;A|0.051	0.051	strong		0.547	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			A	115064423	G	A	115064423	3	1	23	1	0	0	0	0	1	0	0	0	17002	1319	46	2	985	2	UPF3A	13	115064423	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17118	115064423	105455	3266	19722										
ZNF828	283489	hgsc.bcm.edu	37	chr13	115091399	115091399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaaagaagcttttatctcTgaagaggagattgcaaaata	9	4	1	4	rs9525332	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr13:115091399T>C	ENST00000361283.1	+	3	2391	c.2082T>C	c.(2080-2082)tcT>tcC	p.S694S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	694	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTTTTATCTCTGAAGAGGAGA	0.353													.|||	606	0.121006	0.1452	0.1455	5008	,	,		21177	0.1062		0.0785	False		,,,				2504	0.1299				p.S694S		Atlas-SNP	.											.	.	.	.	0			c.T2082C						PASS	.	C	,,	514,3892	233.9+/-246.9	30,454,1719	80	82	81		2082,2082,2082	0.6	1	13	dbSNP_119	81	576,8024	155.2+/-209.3	21,534,3745	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF828	NM_001164144.1,NM_001164145.1,NM_032436.2	,,	51,988,5464	CC,CT,TT		6.6977,11.6659,8.3807	,,	694/813,694/813,694/813	115091399	1090,11916	2203	4300	6503	SO:0001819	synonymous_variant	283489	exon3			TATCTCTGAAGAG	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2082T>C	13.37:g.115091399T>C		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	113	50	0.442478	NM_001164144	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																			T|0.893;C|0.107	0.107	strong		0.353	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115091399	T	C	115091399	2	2	23	1	0	0	0	0	0	0	0	1	18178	1567	55	3		3	ZNF828	13	115091399	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26976	115091399	78479	3267	19723										
OR11H12	440153	hgsc.bcm.edu	37	chr14	19378322	19378322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaaagctgtgttgggtatGccttcaagcactgggagaca	13	8	1	2	rs201485834		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:19378322G>A	ENST00000550708.1	+	1	801	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTGGGTATGCCTTCAAGCA	0.428																																					p.M243I		Atlas-SNP	.											OR11H12,NS,malignant_melanoma,+1,1	OR11H12	58	1	0			c.G729A						scavenged	.						3	1	1					14																	19378322		201	443	644	SO:0001583	missense	440153	exon1			GGGTATGCCTTCA		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.729G>A	14.37:g.19378322G>A	ENSP00000449002:p.Met243Ile	Somatic	1144	1	0.000874126		WXS	Illumina HiSeq	Phase_I	1329	22	0.0165538	NM_001013354		Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0.944	-0.708542	0.03230	.	.	ENSG00000257115	ENST00000550708	T	0.00021	9.03	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.483801	0.17283	N	0.179914	T	0.00039	0.0001	N	0.02876	-0.465	0.22675	N	0.998867	B	0.13594	0.008	B	0.12837	0.008	T	0.18366	-1.0339	9	0.02654	T	1	.	3.0137	0.06052	0.3477:0.0:0.6523:0.0	.	243	B2RN74	O11HC_HUMAN	I	243	ENSP00000449002:M243I	ENSP00000449002:M243I	M	+	3	0	CR383656.1	18448322	0.000000	0.05858	0.847000	0.33407	0.095000	0.18619	-0.623000	0.05546	0.619000	0.30197	0.064000	0.15345	ATG	.	.	weak		0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19378322	G	A	19378322	3	1	23	1	0	0	0	0	1	0	0	0	10927	1319	46	2	731	2	OR11H12	14	19378322	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10		19378322	87971218	3268	19724										
OR4N2	390429	hgsc.bcm.edu	37	chr14	20295763	20295763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttcaccataaagtcagaCcctgggctcacagcccccct	6	16	3	1	rs11621854	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20295763C>T	ENST00000315947.1	+	1	156	c.156C>T	c.(154-156)gaC>gaT	p.D52D	OR4N2_ENST00000568211.1_Silent_p.D52D	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAAGTCAGACCCTGGGCTCA	0.463																																					p.D52D		Atlas-SNP	.											.	OR4N2	125	.	0			c.C156T						PASS	.	C		1466,2940		210,1046,947	182	219	206		156	-0.9	0.9	14	dbSNP_120	206	1721,6879		148,1425,2727	no	coding-synonymous	OR4N2	NM_001004723.1		358,2471,3674	TT,TC,CC		20.0116,33.2728,24.5041		52/308	20295763	3187,9819	2203	4300	6503	SO:0001819	synonymous_variant	390429	exon1			GTCAGACCCTGGG		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.156C>T	14.37:g.20295763C>T		Somatic	663	0	0		WXS	Illumina HiSeq	Phase_I	316	186	0.588608	NM_001004723	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	CCDS32022.1																																																																																			C|0.764;T|0.236	0.236	strong		0.463	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20295763	C	T	20295763	2	4	23	1	0	0	0	0	0	0	0	1	11077	506	18	2		2	OR4N2	14	20295763	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	917441	20295763	87053777	3269	19725										
OR4N2	390429	hgsc.bcm.edu	37	chr14	20295778	20295778	+	Silent	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagaccctgggctcacagcCcccctctatttctttctggg					rs11621883	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20295778C>A	ENST00000315947.1	+	1	171	c.171C>A	c.(169-171)gcC>gcA	p.A57A	OR4N2_ENST00000568211.1_Silent_p.A57A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCACAGCCCCCCTCTATT	0.473													.|||	1054	0.210463	0.2769	0.1657	5008	,	,		26389	0.1161		0.2107	False		,,,				2504	0.2495				p.A57A		Atlas-SNP	.											.	OR4N2	125	.	0			c.C171A						PASS	.	C		106,4300		30,46,2127	178	214	202		171	-5.2	0.1	14	dbSNP_120	202	130,8466		39,52,4207	no	coding-synonymous	OR4N2	NM_001004723.1		69,98,6334	AA,AC,CC		1.5123,2.4058,1.8151		57/308	20295778	236,12766	2203	4298	6501	SO:0001819	synonymous_variant	390429	exon1			CACAGCCCCCCTC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.171C>A	14.37:g.20295778C>A		Somatic	647	2	0.00309119		WXS	Illumina HiSeq	Phase_I	285	156	0.547368	NM_001004723	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	CCDS32022.1																																																																																			A|0.114;C|0.886;T|0.000	0.114	strong		0.473	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20295778	C	A	20295778	2	1	23	1	0	0	0	0	0	0	0	1	11077	610	22	4		4	OR4N2	14	20295778	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15	20295778	87053762	3270	19726	401	2								
OR4N2	390429	hgsc.bcm.edu	37	chr14	20295779	20295779	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaccctgggctcacagccCccctctatttctttctgggc					rs11621884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20295779C>G	ENST00000315947.1	+	1	172	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	OR4N2_ENST00000568211.1_Missense_Mutation_p.P58A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCACAGCCCCCCTCTATTT	0.473													.|||	1039	0.207468	0.2663	0.1657	5008	,	,		25877	0.1161		0.2107	False		,,,				2504	0.2485				p.P58A		Atlas-SNP	.											OR4N2,NS,carcinoma,-2,1	OR4N2	125	1	0			c.C172G						PASS	.	C	ALA/PRO	76,4330		24,28,2151	178	213	201		172	4.3	0.2	14	dbSNP_120	201	114,8482		37,40,4221	no	missense	OR4N2	NM_001004723.1	27	61,68,6372	GG,GC,CC		1.3262,1.7249,1.4613	probably-damaging	58/308	20295779	190,12812	2203	4298	6501	SO:0001583	missense	390429	exon1			ACAGCCCCCCTCT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.172C>G	14.37:g.20295779C>G	ENSP00000319601:p.Pro58Ala	Somatic	645	0	0		WXS	Illumina HiSeq	Phase_I	281	152	0.540925	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	266	0.12179487179487179	80	0.16260162601626016	41	0.1132596685082873	49	0.08566433566433566	96	0.1266490765171504	.	16.18	3.050174	0.55218	0.017249	0.013262	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.02015	4.5;4.5	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	T	0.00073	0.0002	M	0.93550	3.43	0.24376	P	0.99481913	D	0.89917	1.0	D	0.97110	1.0	T	0.01549	-1.1327	9	0.72032	D	0.01	-18.589	14.6285	0.68640	0.0:1.0:0.0:0.0	rs11621884	58	Q8NGD1	OR4N2_HUMAN	A	58	ENSP00000452022:P58A;ENSP00000319601:P58A	ENSP00000319601:P58A	P	+	1	0	OR4N2	19365619	0.998000	0.40836	0.248000	0.24265	0.439000	0.31926	4.629000	0.61290	2.374000	0.81015	0.591000	0.81541	CCC	C|0.886;G|0.114	0.114	strong		0.473	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20295779	C	G	20295779	3	3	23	1	0	0	0	0	1	0	0	0	11077	623	22	4	174	4	OR4N2	14	20295779	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	20295779	87053761	3271	19727	401	2								
OR4N2	390429	hgsc.bcm.edu	37	chr14	20296004	20296004	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgccggcctctgcactatCctactgtcatgaaccctaga					rs2318279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20296004C>T	ENST00000315947.1	+	1	397	c.397C>T	c.(397-399)Cct>Tct	p.P133S	OR4N2_ENST00000568211.1_Missense_Mutation_p.P133S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	133			P -> S (in dbSNP:rs2318279).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P133S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGCACTATCCTACTGTCAT	0.522																																					p.P133S		Atlas-SNP	.											OR4N2,NS,carcinoma,0,1	OR4N2	125	1	1	Substitution - Missense(1)	stomach(1)	c.C397T						PASS	.	T	SER/PRO	1656,2750		218,1220,765	205	218	214		397	-1.6	0	14	dbSNP_100	214	2205,6395		148,1909,2243	yes	missense	OR4N2	NM_001004723.1	74	366,3129,3008	TT,TC,CC		25.6395,37.5851,29.6863	benign	133/308	20296004	3861,9145	2203	4300	6503	SO:0001583	missense	390429	exon1			CACTATCCTACTG		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.397C>T	14.37:g.20296004C>T	ENSP00000319601:p.Pro133Ser	Somatic	876	1	0.00114155		WXS	Illumina HiSeq	Phase_I	467	260	0.556745	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	569	0.26053113553113555	215	0.4369918699186992	77	0.212707182320442	69	0.12062937062937062	208	0.27440633245382584	.	0.188	-1.055704	0.01965	0.375851	0.256395	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00995	5.46;5.46	4.53	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.174373	0.27976	N	0.017092	T	0.00012	0.0000	N	0.21373	0.66	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	9	0.40728	T	0.16	-1.2504	2.051	0.03571	0.2302:0.0877:0.3897:0.2924	rs2318279;rs52793006;rs2318279	133	Q8NGD1	OR4N2_HUMAN	S	133	ENSP00000452022:P133S;ENSP00000319601:P133S	ENSP00000319601:P133S	P	+	1	0	OR4N2	19365844	0.000000	0.05858	0.006000	0.13384	0.292000	0.27327	-1.373000	0.02568	-0.283000	0.09115	-0.332000	0.08345	CCT	C|0.753;T|0.247	0.247	strong		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20296004	C	T	20296004	3	4	23	1	0	0	0	0	1	0	0	0	11077	855	30	2	399	2	OR4N2	14	20296004	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	225	20296004	87053536	3272	19728	402	2								
OR4N2	390429	hgsc.bcm.edu	37	chr14	20296010	20296010	+	Missense_Mutation	SNP	G	G	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctctgcactatcctactGtcatgaaccctagaacctgc					rs17114261	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20296010G>C	ENST00000315947.1	+	1	403	c.403G>C	c.(403-405)Gtc>Ctc	p.V135L	OR4N2_ENST00000568211.1_Missense_Mutation_p.V135L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	135			V -> L (in dbSNP:rs17114261).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATCCTACTGTCATGAACCC	0.522																																					p.V135L		Atlas-SNP	.											.	OR4N2	125	.	0			c.G403C						PASS	.	G	LEU/VAL	1121,3285		87,947,1169	209	221	217		403	-0.6	0.4	14	dbSNP_123	217	1852,6748		73,1706,2521	no	missense	OR4N2	NM_001004723.1	32	160,2653,3690	CC,CG,GG		21.5349,25.4426,22.8587	benign	135/308	20296010	2973,10033	2203	4300	6503	SO:0001583	missense	390429	exon1			CCTACTGTCATGA		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.403G>C	14.37:g.20296010G>C	ENSP00000319601:p.Val135Leu	Somatic	910	0	0		WXS	Illumina HiSeq	Phase_I	474	265	0.559072	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	419	0.19184981684981686	136	0.2764227642276423	62	0.1712707182320442	67	0.11713286713286714	154	0.20316622691292877	.	8.615	0.889998	0.17540	0.254426	0.215349	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01092	5.35;5.35	4.53	-0.609	0.11608	GPCR, rhodopsin-like superfamily (1);	0.151669	0.30800	N	0.008845	T	0.00012	0.0000	N	0.02830	-0.485	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.12156	0.007	T	0.48536	-0.9027	9	0.66056	D	0.02	-16.9757	4.4754	0.11733	0.4631:0.1668:0.3701:0.0	rs17114261	135	Q8NGD1	OR4N2_HUMAN	L	135	ENSP00000452022:V135L;ENSP00000319601:V135L	ENSP00000319601:V135L	V	+	1	0	OR4N2	19365850	0.000000	0.05858	0.387000	0.26183	0.524000	0.34500	-0.609000	0.05635	-0.010000	0.14271	0.591000	0.81541	GTC	G|0.824;C|0.176	0.176	strong		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			C	20296010	G	C	20296010	3	2	23	1	0	0	0	0	1	0	0	0	11077	1377	48	4	405	4	OR4N2	14	20296010	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6	20296010	87053530	3273	19729	402	2								
OR4K13	390433	hgsc.bcm.edu	37	chr14	20502044	20502044	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggctgcttttacctcttGatttcttaatgtataaataa	5	6	2	1	rs17277025	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20502044G>T	ENST00000315693.2	-	1	875	c.874C>A	c.(874-876)Caa>Aaa	p.Q292K	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	292			Q -> K (in dbSNP:rs17277025).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTACCTCTTGATTTCTTAAT	0.323													G|||	438	0.0874601	0.062	0.147	5008	,	,		17248	0.0397		0.0716	False		,,,				2504	0.1452				p.Q292K		Atlas-SNP	.											.	OR4K13	68	.	0			c.C874A						PASS	.	G	LYS/GLN	234,4164		3,228,1968	17	19	18		874	0.5	0	14	dbSNP_123	18	672,7908		27,618,3645	yes	missense	OR4K13	NM_001004714.1	53	30,846,5613	TT,TG,GG		7.8322,5.3206,6.981	benign	292/305	20502044	906,12072	2199	4290	6489	SO:0001583	missense	390433	exon1			CCTCTTGATTTCT		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.874C>A	14.37:g.20502044G>T	ENSP00000319322:p.Gln292Lys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	99	41	0.414141	NM_001004714	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	151	0.06913919413919414	27	0.054878048780487805	45	0.12430939226519337	19	0.033216783216783216	60	0.079155672823219	.	0	-2.770336	0.00081	0.053206	0.078322	ENSG00000176253	ENST00000315693	T	0.30182	1.54	3.61	0.525	0.17072	.	0.660788	0.12310	N	0.480320	T	0.00109	0.0003	N	0.01168	-0.975	0.44477	P	0.002585999999999977	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	9	0.02654	T	1	.	7.5191	0.27618	0.0:0.1486:0.3966:0.4548	rs17277025;rs17277025	292	Q8NH42	OR4KD_HUMAN	K	292	ENSP00000319322:Q292K	ENSP00000319322:Q292K	Q	-	1	0	OR4K13	19571884	0.971000	0.33674	0.004000	0.12327	0.061000	0.15899	0.646000	0.24797	-0.097000	0.12307	0.514000	0.50259	CAA	G|0.933;T|0.067	0.067	strong		0.323	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			T	20502044	G	T	20502044	3	4	23	1	0	0	0	0	1	0	0	0	11068	1299	45	4	42	4	OR4K13	14	20502044	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	206034	20502044	86847496	3274	19730										
OR4L1	122742	hgsc.bcm.edu	37	chr14	20528496	20528496	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctctgtgtggggctgcgTgacccagatgttcttcatgc	12	11	3	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20528496T>A	ENST00000315683.1	+	1	293	c.293T>A	c.(292-294)gTg>gAg	p.V98E		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGGGCTGCGTGACCCAGATG	0.473																																					p.V98E		Atlas-SNP	.											OR4L1,NS,carcinoma,+1,1	OR4L1	98	1	0			c.T293A						scavenged	.						152	138	143					14																	20528496		2203	4300	6503	SO:0001583	missense	122742	exon1			GCTGCGTGACCCA		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.293T>A	14.37:g.20528496T>A	ENSP00000319217:p.Val98Glu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	190	2	0.0105263	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.405594	0.42715	.	.	ENSG00000176246	ENST00000315683	T	0.02085	4.46	3.97	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.235104	0.34156	N	0.004208	T	0.02807	0.0084	L	0.48877	1.53	0.25432	N	0.988179	B	0.20780	0.048	B	0.23716	0.048	T	0.35400	-0.9790	10	0.87932	D	0	.	7.7235	0.28746	0.0:0.1044:0.0:0.8956	.	98	Q8NH43	OR4L1_HUMAN	E	98	ENSP00000319217:V98E	ENSP00000319217:V98E	V	+	2	0	OR4L1	19598336	0.048000	0.20356	0.990000	0.47175	0.879000	0.50718	1.746000	0.38288	0.681000	0.31386	0.524000	0.50904	GTG	.	.	none		0.473	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			A	20528496	T	A	20528496	3	1	23	1	0	0	0	0	1	0	0	0	11074	1696	59	5	295	5	OR4L1	14	20528496	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26452	20528496	86821044	3275	19731										
OR11H6	122748	hgsc.bcm.edu	37	chr14	20691888	20691888	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgttctttattattcattCtttggttacttctgtttttc	4	6	4	0	rs10140652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20691888C>A	ENST00000315519.2	+	1	98	c.20C>A	c.(19-21)tCt>tAt	p.S7Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	7			S -> Y (in dbSNP:rs10140652).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		attattCATTCTTTGGTTACT	0.373													c|||	498	0.0994409	0.121	0.049	5008	,	,		21282	0.0903		0.0815	False		,,,				2504	0.1339				p.S7Y		Atlas-SNP	.											.	OR11H6	60	.	0			c.C20A						PASS	.	C	TYR/SER	427,3979	198.7+/-222.5	18,391,1794	70	75	73		20	-4.8	0	14	dbSNP_119	73	620,7980	153.0+/-207.5	34,552,3714	yes	missense	OR11H6	NM_001004480.1	144	52,943,5508	AA,AC,CC		7.2093,9.6913,8.0501	benign	7/331	20691888	1047,11959	2203	4300	6503	SO:0001583	missense	122748	exon1			TTCATTCTTTGGT		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.20C>A	14.37:g.20691888C>A	ENSP00000319071:p.Ser7Tyr	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	245	84	0.342857	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	204	0.09340659340659341	72	0.14634146341463414	17	0.04696132596685083	53	0.09265734265734266	62	0.08179419525065963	c	8.427	0.847651	0.17034	0.096913	0.072093	ENSG00000176219	ENST00000315519	T	0.00554	6.64	4.53	-4.82	0.03171	.	2.033520	0.02979	U	0.145446	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.20671	0.047	B	0.16289	0.015	T	0.39461	-0.9613	9	0.38643	T	0.18	.	7.818	0.29271	0.0:0.2525:0.129:0.6185	rs10140652;rs52838202;rs58829059;rs10140652	7	Q8NGC7	O11H6_HUMAN	Y	7	ENSP00000319071:S7Y	ENSP00000319071:S7Y	S	+	2	0	OR11H6	19761728	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-1.346000	0.02634	-0.847000	0.04168	-0.417000	0.06048	TCT	C|0.909;A|0.091	0.091	strong		0.373	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			A	20691888	C	A	20691888	3	1	23	1	0	0	0	0	1	0	0	0	10929	913	32	4	22	4	OR11H6	14	20691888	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	163392	20691888	86657652	3276	19732										
OR11H6	122748	hgsc.bcm.edu	37	chr14	20691962	20691962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttgtgactgagtttgtcCtcctgggtttccatggtcaa	10	8	1	2	rs9323693	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20691962C>G	ENST00000315519.2	+	1	172	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	32			L -> V (in dbSNP:rs9323693).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGAGTTTGTCCTCCTGGGTTT	0.428													c|||	498	0.0994409	0.121	0.049	5008	,	,		20383	0.0903		0.0815	False		,,,				2504	0.1339				p.L32V		Atlas-SNP	.											.	OR11H6	60	.	0			c.C94G						PASS	.	C	VAL/LEU	429,3977	209.8+/-230.5	18,393,1792	133	130	131		94	4.6	1	14	dbSNP_119	131	633,7967	164.2+/-216.6	34,565,3701	yes	missense	OR11H6	NM_001004480.1	32	52,958,5493	GG,GC,CC		7.3605,9.7367,8.1655	benign	32/331	20691962	1062,11944	2203	4300	6503	SO:0001583	missense	122748	exon1			TTTGTCCTCCTGG		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.94C>G	14.37:g.20691962C>G	ENSP00000319071:p.Leu32Val	Somatic	296	1	0.00337838		WXS	Illumina HiSeq	Phase_I	376	136	0.361702	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	204	0.09340659340659341	72	0.14634146341463414	17	0.04696132596685083	53	0.09265734265734266	62	0.08179419525065963	C	13.14	2.149408	0.37923	0.097367	0.073605	ENSG00000176219	ENST00000315519	T	0.00563	6.58	4.57	4.57	0.56435	.	0.000000	0.44483	D	0.000445	T	0.00012	0.0000	H	0.95611	3.695	0.35325	P	0.21487999999999996	P	0.45672	0.864	B	0.42214	0.38	T	0.18555	-1.0333	9	0.87932	D	0	.	15.2129	0.73241	0.0:1.0:0.0:0.0	rs9323693;rs17211271;rs52805624;rs9323693	32	Q8NGC7	O11H6_HUMAN	V	32	ENSP00000319071:L32V	ENSP00000319071:L32V	L	+	1	0	OR11H6	19761802	0.297000	0.24408	1.000000	0.80357	0.759000	0.43091	0.917000	0.28665	2.521000	0.84997	0.442000	0.29010	CTC	C|0.918;G|0.082	0.082	strong		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			G	20691962	C	G	20691962	3	3	23	1	0	0	0	0	1	0	0	0	10929	681	24	4	96	4	OR11H6	14	20691962	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	74	20691962	86657578	3277	19733										
TTC5	91875	hgsc.bcm.edu	37	chr14	20770036	20770036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggttttctccatctccttcTgcacatcctgttgcttcctc	6	15	3	0	rs3742945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20770036T>C	ENST00000258821.3	-	2	196	c.140A>G	c.(139-141)cAg>cGg	p.Q47R		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	47			Q -> R (in dbSNP:rs3742945). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CATCTCCTTCTGCACATCCTG	0.458													C|||	3734	0.745607	0.7579	0.8559	5008	,	,		22041	0.7956		0.7406	False		,,,				2504	0.6043				p.Q47R		Atlas-SNP	.											TTC5,NS,adenoma,0,1	TTC5	34	1	0			c.A140G						scavenged	.	C	ARG/GLN	3294,1112	398.1+/-330.7	1231,832,140	237	181	200		140	0.4	0.9	14	dbSNP_107	200	6294,2306	387.1+/-342.1	2309,1676,315	yes	missense	TTC5	NM_138376.2	43	3540,2508,455	CC,CT,TT		26.814,25.2383,26.2802	benign	47/441	20770036	9588,3418	2203	4300	6503	SO:0001583	missense	91875	exon2			TCCTTCTGCACAT	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.140A>G	14.37:g.20770036T>C	ENSP00000258821:p.Gln47Arg	Somatic	292	2	0.00684932		WXS	Illumina HiSeq	Phase_I	364	136	0.373626	NM_138376	A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	1696	0.7765567765567766	370	0.7520325203252033	302	0.8342541436464088	459	0.8024475524475524	565	0.7453825857519789	C	0.248	-1.008434	0.02112	0.747617	0.73186	ENSG00000136319	ENST00000258821	T	0.28666	1.6	4.31	0.384	0.16244	Tetratricopeptide-like helical (1);	0.511690	0.21623	N	0.071602	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	9	0.08179	T	0.78	.	8.8128	0.34978	0.0:0.4622:0.0:0.5378	rs3742945;rs17845175;rs17856898;rs17857985;rs17859578;rs52798233;rs60485527;rs3742945	47	Q8N0Z6	TTC5_HUMAN	R	47	ENSP00000258821:Q47R	ENSP00000258821:Q47R	Q	-	2	0	TTC5	19839876	0.000000	0.05858	0.892000	0.35008	0.788000	0.44548	-0.336000	0.07863	-0.367000	0.08052	-0.996000	0.02517	CAG	T|0.243;C|0.757	0.757	strong		0.458	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		C	20770036	T	C	20770036	3	2	23	1	0	0	0	0	1	0	0	0	16708	1580	55	3	1218	3	TTC5	14	20770036	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	78074	20770036	86579504	3278	19734										
PARP2	10038	hgsc.bcm.edu	37	chr14	20824181	20824181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccttgaccatgaaagttaTgagttcaaagtaagaaaaat	7	7	1	4	rs3093930	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20824181T>C	ENST00000250416.5	+	11	1158	c.1131T>C	c.(1129-1131)taT>taC	p.Y377Y	PARP2_ENST00000527915.1_Silent_p.Y377Y|PARP2_ENST00000429687.3_Silent_p.Y364Y	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	377	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAAAGTTATGAGTTCAAAG	0.418								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					T|||	2557	0.510583	0.2867	0.6225	5008	,	,		20925	0.6002		0.675	False		,,,				2504	0.4724				p.Y377Y		Atlas-SNP	.											.	PARP2	92	.	0			c.T1131C						PASS	.	T	,	1332,2462		232,868,797	150	137	141		1092,1131	2.3	0.4	14	dbSNP_103	141	5527,2693		1864,1799,447	no	coding-synonymous,coding-synonymous	PARP2	NM_001042618.1,NM_005484.3	,	2096,2667,1244	CC,CT,TT		32.7616,35.1081,42.9083	,	364/571,377/584	20824181	6859,5155	1897	4110	6007	SO:0001819	synonymous_variant	10038	exon11			AAGTTATGAGTTC	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1131T>C	14.37:g.20824181T>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	195	193	0.989744	NM_005484	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	ENST00000250416.5	37	CCDS41910.1	1261	0.5773809523809523	145	0.29471544715447157	232	0.6408839779005525	370	0.6468531468531469	514	0.6781002638522428	T	3.016	-0.202879	0.06219	0.351081	0.672384	ENSG00000129484	ENST00000539930	.	.	.	6.03	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999773513	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2828	5.6326	0.17518	0.0:0.1499:0.1438:0.7062	rs3093930;rs17308338;rs57586296;rs3093930	.	.	.	R	54	.	.	X	+	1	0	PARP2	19894021	0.080000	0.21391	0.422000	0.26621	0.835000	0.47333	-0.093000	0.11111	0.150000	0.19136	0.533000	0.62120	TGA	T|0.445;C|0.555	0.555	strong		0.418	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			C	20824181	T	C	20824181	2	2	23	1	0	0	0	0	0	0	0	1	11461	1471	51	2		2	PARP2	14	20824181	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	54145	20824181	86525359	3279	19735										
TEP1	7011	hgsc.bcm.edu	37	chr14	20837033	20837033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcaactcaggtagcacaTggagggctgtgacagagccc	13	12	1	2	rs2104978	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20837033T>C	ENST00000262715.5	-	54	7725	c.7685A>G	c.(7684-7686)cAt>cGt	p.H2562R	TEP1_ENST00000556935.1_Missense_Mutation_p.H2454R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2562			H -> R (in dbSNP:rs2104978).		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)		AGGTAGCACATGGAGGGCTGT	0.527													T|||	173	0.0345447	0.003	0.0317	5008	,	,		16457	0.002		0.0656	False		,,,				2504	0.0808				p.H2562R		Atlas-SNP	.											.	TEP1	224	.	0			c.A7685G						PASS	.	T	ARG/HIS	62,4344	60.5+/-97.4	0,62,2141	87	67	74		7685	5.8	1	14	dbSNP_96	74	570,8030	153.6+/-207.9	17,536,3747	yes	missense	TEP1	NM_007110.4	29	17,598,5888	CC,CT,TT		6.6279,1.4072,4.8593	probably-damaging	2562/2628	20837033	632,12374	2203	4300	6503	SO:0001583	missense	7011	exon54			AGCACATGGAGGG		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.7685A>G	14.37:g.20837033T>C	ENSP00000262715:p.His2562Arg	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	260	155	0.596154	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	63	0.028846153846153848	0	0.0	12	0.03314917127071823	0	0.0	51	0.06728232189973615	T	21.4	4.151048	0.78001	0.014072	0.066279	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.58210	0.35;0.35	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181219	0.42964	D	0.000629	T	0.10594	0.0259	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.961;0.977	T	0.22556	-1.0213	10	0.13108	T	0.6	-17.9579	13.6839	0.62504	0.0:0.0:0.0:1.0	rs2104978;rs2228033;rs17277305;rs52818387;rs2104978	2454;2562	G3V5X7;Q99973	.;TEP1_HUMAN	R	2562;2554;2454	ENSP00000262715:H2562R;ENSP00000452574:H2454R	ENSP00000262715:H2562R	H	-	2	0	TEP1	19906873	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.917000	0.56424	2.226000	0.72624	0.482000	0.46254	CAT	T|0.957;C|0.043	0.043	strong		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20837033	T	C	20837033	3	2	23	1	0	0	0	0	1	0	0	0	15756	1464	51	2	206	2	TEP1	14	20837033	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12852	20837033	86512507	3280	19736										
TEP1	7011	hgsc.bcm.edu	37	chr14	20841707	20841707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggccccatctagcccgaCggttaccaccagaagctctg	10	15	2	1	rs1713449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20841707C>T	ENST00000262715.5	-	46	6680	c.6640G>A	c.(6640-6642)Gtc>Atc	p.V2214I	TEP1_ENST00000556935.1_Missense_Mutation_p.V2106I|TEP1_ENST00000545983.1_Missense_Mutation_p.V552I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2214			V -> I (in dbSNP:rs1713449).		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)		TCTAGCCCGACGGTTACCACC	0.552													T|||	1623	0.324081	0.4675	0.3646	5008	,	,		21201	0.3056		0.2187	False		,,,				2504	0.229				p.V2214I		Atlas-SNP	.											TEP1,NS,carcinoma,0,1	TEP1	224	1	0			c.G6640A						PASS	.	T	ILE/VAL	1806,2600	640.4+/-397.3	363,1080,760	74	67	69		6640	4.3	0.4	14	dbSNP_89	69	1767,6833	734.4+/-406.9	176,1415,2709	yes	missense	TEP1	NM_007110.4	29	539,2495,3469	TT,TC,CC		20.5465,40.9896,27.4719	benign	2214/2628	20841707	3573,9433	2203	4300	6503	SO:0001583	missense	7011	exon46			GCCCGACGGTTAC		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.6640G>A	14.37:g.20841707C>T	ENSP00000262715:p.Val2214Ile	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	198	75	0.378788	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	682	0.31227106227106227	226	0.45934959349593496	115	0.31767955801104975	169	0.29545454545454547	172	0.22691292875989447	T	4.632	0.117390	0.08881	0.409896	0.205465	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.56103	2.19;2.19;0.48	5.25	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.575156	0.17401	N	0.175537	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B	0.31209	0.002;0.002;0.313;0.001	B;B;B;B	0.27380	0.001;0.004;0.079;0.002	T	0.46638	-0.9177	9	0.23302	T	0.38	-0.1231	12.057	0.53540	0.0:0.9059:0.0:0.0941	rs1713449;rs2228024;rs59335611;rs1713449	552;2106;1557;2214	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	I	2214;2214;2106;552	ENSP00000262715:V2214I;ENSP00000452574:V2106I;ENSP00000438849:V552I	ENSP00000262715:V2214I	V	-	1	0	TEP1	19911547	0.047000	0.20315	0.434000	0.26772	0.140000	0.21249	1.561000	0.36342	0.601000	0.29879	-0.977000	0.02584	GTC	C|0.712;T|0.288	0.288	strong		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20841707	C	T	20841707	3	4	23	1	0	0	0	0	1	0	0	0	15756	536	19	1	1283	1	TEP1	14	20841707	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4674	20841707	86507833	3281	19737										
TEP1	7011	hgsc.bcm.edu	37	chr14	20845521	20845521	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaggagccagagggactgAagggagcattccttgagtgc	16	8	0	3	rs2229101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20845521A>C	ENST00000262715.5	-	41	6046	c.6006T>G	c.(6004-6006)ctT>ctG	p.L2002L	TEP1_ENST00000556935.1_Silent_p.L1894L|TEP1_ENST00000545983.1_Silent_p.L340L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2002					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)		AGAGGGACTGAAGGGAGCATT	0.587													A|||	295	0.0589058	0.09	0.036	5008	,	,		14898	0.002		0.0676	False		,,,				2504	0.0828				p.L2002L		Atlas-SNP	.											.	TEP1	224	.	0			c.T6006G						PASS	.	A		370,4036	189.2+/-215.4	17,336,1850	58	51	53		6006	-3.9	0.2	14	dbSNP_98	53	567,8033	153.4+/-207.8	19,529,3752	no	coding-synonymous	TEP1	NM_007110.4		36,865,5602	CC,CA,AA		6.593,8.3976,7.2044		2002/2628	20845521	937,12069	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon41			GGACTGAAGGGAG		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.6006T>G	14.37:g.20845521A>C		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	144	95	0.659722	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			A|0.936;C|0.064	0.064	strong		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20845521	A	C	20845521	2	2	23	1	0	0	0	0	0	0	0	1	15756	233	9	5		5	TEP1	14	20845521	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3814	20845521	86504019	3282	19738										
TEP1	7011	hgsc.bcm.edu	37	chr14	20847202	20847202	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggcagtaagaaagagtgtAtcatcggagaggaacaaaca	12	5	1	3	rs938887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20847202A>G	ENST00000262715.5	-	36	5230	c.5190T>C	c.(5188-5190)gaT>gaC	p.D1730D	TEP1_ENST00000556935.1_Silent_p.D1622D|TEP1_ENST00000545983.1_Silent_p.D68D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1730					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)		GAAAGAGTGTATCATCGGAGA	0.567													A|||	1528	0.305112	0.4531	0.3559	5008	,	,		20391	0.2718		0.2058	False		,,,				2504	0.2055				p.D1730D		Atlas-SNP	.											.	TEP1	224	.	0			c.T5190C						PASS	.	A		1861,2545	539.6+/-375.3	389,1083,731	108	101	103		5190	-11.9	0	14	dbSNP_86	103	1688,6912	310.0+/-309.6	162,1364,2774	no	coding-synonymous	TEP1	NM_007110.4		551,2447,3505	GG,GA,AA		19.6279,42.2379,27.2874		1730/2628	20847202	3549,9457	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon36			GAGTGTATCATCG		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.5190T>C	14.37:g.20847202A>G		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	187	64	0.342246	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			A|0.719;C|0.001	.	strong		0.567	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20847202	A	G	20847202	2	3	23	1	0	0	0	0	0	0	0	1	15756	446	16	2		2	TEP1	14	20847202	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1681	20847202	86502338	3283	19739										
TEP1	7011	hgsc.bcm.edu	37	chr14	20850093	20850093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcgcagactctggacgaggCaggcaaacgggcccatgggg	17	11	1	1	rs1713456	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20850093C>T	ENST00000262715.5	-	30	4443	c.4403G>A	c.(4402-4404)tGc>tAc	p.C1468Y	TEP1_ENST00000556935.1_Missense_Mutation_p.C1360Y|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		C -> Y (in dbSNP:rs1713456).		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)		CTGGACGAGGCAGGCAAACGG	0.612													T|||	1198	0.239217	0.4448	0.1888	5008	,	,		17667	0.0992		0.1889	False		,,,				2504	0.1933				p.C1468Y		Atlas-SNP	.											TEP1,NS,carcinoma,+1,1	TEP1	224	1	0			c.G4403A						scavenged	.	T	TYR/CYS	1672,2734	655.1+/-399.9	327,1018,858	147	132	137		4403	3.8	1	14	dbSNP_89	137	1579,7021	744.7+/-407.2	141,1297,2862	yes	missense	TEP1	NM_007110.4	194	468,2315,3720	TT,TC,CC		18.3605,37.9483,24.9962	benign	1468/2628	20850093	3251,9755	2203	4300	6503	SO:0001583	missense	7011	exon30			ACGAGGCAGGCAA		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.4403G>A	14.37:g.20850093C>T	ENSP00000262715:p.Cys1468Tyr	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	120	116	0.966667	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	486	0.22252747252747251	213	0.4329268292682927	73	0.20165745856353592	50	0.08741258741258741	150	0.19788918205804748	T	0.800	-0.755646	0.03019	0.379483	0.183605	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.43688	1.01;0.94	4.98	3.82	0.43975	.	0.431628	0.25302	N	0.031653	T	0.00012	0.0000	N	0.00170	-1.935	0.09310	P	0.999999999813782	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45175	-0.9279	9	0.02654	T	1	-6.2294	4.6463	0.12574	0.1671:0.0917:0.0:0.7411	rs1713456;rs2228029;rs52817703;rs60076485;rs1713456	1360;811;1468	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Y	1468;1468;1360	ENSP00000262715:C1468Y;ENSP00000452574:C1360Y	ENSP00000262715:C1468Y	C	-	2	0	TEP1	19919933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.613000	0.24299	0.325000	0.23359	-0.521000	0.04368	TGC	C|0.754;A|0.001	.	strong		0.612	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20850093	C	T	20850093	3	4	23	1	0	0	0	0	1	0	0	0	15756	710	25	2	3584	2	TEP1	14	20850093	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2891	20850093	86499447	3284	19740										
TEP1	7011	hgsc.bcm.edu	37	chr14	20852770	20852770	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagctcacctgcggcaggtGatccctttctgtctgcttag	10	13	4	1	rs1713458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20852770G>T	ENST00000262715.5	-	22	3250	c.3210C>A	c.(3208-3210)atC>atA	p.I1070I	TEP1_ENST00000556935.1_Silent_p.I962I|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1070					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)		TGCGGCAGGTGATCCCTTTCT	0.557													G|||	1343	0.268171	0.4244	0.304	5008	,	,		17233	0.2698		0.1282	False		,,,				2504	0.1738				p.I1070I		Atlas-SNP	.											.	TEP1	224	.	0			c.C3210A						PASS	.	G		1584,2822	494.1+/-362.9	291,1002,910	140	150	147		3210	-3.4	0.1	14	dbSNP_89	147	1085,7515	227.3+/-262.8	71,943,3286	no	coding-synonymous	TEP1	NM_007110.4		362,1945,4196	TT,TG,GG		12.6163,35.951,20.5213		1070/2628	20852770	2669,10337	2203	4300	6503	SO:0001819	synonymous_variant	7011	exon22			GCAGGTGATCCCT		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.3210C>A	14.37:g.20852770G>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	178	57	0.320225	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																			G|0.769;T|0.231	0.231	strong		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20852770	G	T	20852770	2	4	23	1	0	0	0	0	0	0	0	1	15756	1280	45	4		4	TEP1	14	20852770	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2677	20852770	86496770	3285	19741										
PNP	4860	hgsc.bcm.edu	37	chr14	20940606	20940606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggcccagatctttgactacGgtgaaatccccaactttccc	7	14	1	3	rs1049564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20940606G>A	ENST00000361505.5	+	2	297	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.G51S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTTTGACTACGGTGAAATCCC	0.473													A|||	1025	0.204673	0.2474	0.2104	5008	,	,		20475	0.2063		0.1998	False		,,,				2504	0.1462				p.G51S		Atlas-SNP	.											PNP,NS,carcinoma,0,1	PNP	21	1	1	Substitution - Missense(1)	stomach(1)	c.G151A	GRCh37	CM073244	PNP	M	rs1049564	PASS	.	A	SER/GLY	1083,3323	720.9+/-409.1	121,841,1241	83	74	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	151	5.5	1	14	dbSNP_86	77	1522,7078	747.4+/-407.3	143,1236,2921	yes	missense	PNP	NM_000270.3	56	264,2077,4162	AA,AG,GG		17.6977,24.5801,20.0292	benign	51/290	20940606	2605,10401	2203	4300	6503	SO:0001583	missense	4860	exon2			GACTACGGTGAAA		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.151G>A	14.37:g.20940606G>A	ENSP00000354532:p.Gly51Ser	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	179	62	0.346369	NM_000270		Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	484|484	0.2216117216117216|0.2216117216117216	139|139	0.28252032520325204|0.28252032520325204	84|84	0.23204419889502761|0.23204419889502761	120|120	0.2097902097902098|0.2097902097902098	141|141	0.18601583113456466|0.18601583113456466	A|A	2.844|2.844	-0.239923|-0.239923	0.05944|0.05944	0.245801|0.245801	0.176977|0.176977	ENSG00000198805|ENSG00000198805	ENST00000554469|ENST00000553418;ENST00000361505;ENST00000553591	.|T;D;D	.|0.94232	.|-0.88;-3.38;-3.38	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Nucleoside phosphorylase domain (1);	0.389474|0.389474	0.33290|0.33290	N|N	0.005067|0.005067	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00683|0.00683	-1.26|-1.26	0.58432|0.58432	P|P	8.000000000008E-6|8.000000000008E-6	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.0	T|T	0.34428|0.34428	-0.9829|-0.9829	5|9	.|0.02654	.|T	.|1	-9.946|-9.946	6.5054|6.5054	0.22192|0.22192	0.7854:0.0:0.0759:0.1387|0.7854:0.0:0.0759:0.1387	rs1049564;rs1760937;rs2070219;rs17012367;rs17879175;rs17884346;rs58995400;rs1049564|rs1049564;rs1760937;rs2070219;rs17012367;rs17879175;rs17884346;rs58995400;rs1049564	.|51;51;51	.|Q8N7G1;G3V2H3;P00491	.|.;.;PNPH_HUMAN	R|S	51|51;51;90	.|ENSP00000450663:G51S;ENSP00000354532:G51S;ENSP00000452421:G90S	.|ENSP00000354532:G51S	G|G	+|+	1|1	0|0	PNP|PNP	20010446|20010446	0.331000|0.331000	0.24713|0.24713	0.998000|0.998000	0.56505|0.56505	0.741000|0.741000	0.42261|0.42261	1.210000|1.210000	0.32370|0.32370	1.120000|1.120000	0.41904|0.41904	-0.254000|-0.254000	0.11334|0.11334	GGG|GGT	G|0.786;A|0.214	0.214	strong		0.473	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		A	20940606	G	A	20940606	3	1	23	1	0	0	0	0	1	0	0	0	12163	1116	39	1	157	1	PNP	14	20940606	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	87836	20940606	86408934	3286	19742										
PNP	4860	hgsc.bcm.edu	37	chr14	20940626	20940626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgaaatccccaactttccCcgaagtacaggtactggcaa	9	12	0	1	rs1130650	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:20940626C>T	ENST00000361505.5	+	2	317	c.171C>T	c.(169-171)ccC>ccT	p.P57P	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P57P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCAACTTTCCCCGAAGTACAG	0.468													C|||	1024	0.204473	0.2451	0.2104	5008	,	,		20251	0.2083		0.1998	False		,,,				2504	0.1462				p.P57P		Atlas-SNP	.											PNP,NS,carcinoma,+2,2	PNP	21	2	1	Substitution - coding silent(1)	stomach(1)	c.C171T						PASS	.	C		1058,3348	386.3+/-326.1	119,820,1264	63	56	58		171	0.1	0.3	14	dbSNP_86	58	1521,7079	284.4+/-296.6	143,1235,2922	no	coding-synonymous	PNP	NM_000270.3		262,2055,4186	TT,TC,CC		17.686,24.0127,19.8293		57/290	20940626	2579,10427	2203	4300	6503	SO:0001819	synonymous_variant	4860	exon2			CTTTCCCCGAAGT		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.171C>T	14.37:g.20940626C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	144	49	0.340278	NM_000270		Silent	SNP	ENST00000361505.5	37	CCDS9552.1																																																																																			C|0.786;T|0.214	0.214	strong		0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		T	20940626	C	T	20940626	2	4	23	1	0	0	0	0	0	0	0	1	12163	610	22	2		2	PNP	14	20940626	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20	20940626	86408914	3287	19743										
EDDM3A	10876	hgsc.bcm.edu	37	chr14	21215923	21215923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaaaaagaggctctgaaaGgcaagagctttcatatgttc	11	6	2	4	rs34552133	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21215923G>T	ENST00000326842.2	+	2	311	c.184G>T	c.(184-186)Ggc>Tgc	p.G62C		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	62			G -> C (in dbSNP:rs34552133).		sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGCTCTGAAAGGCAAGAGCTT	0.378													G|||	566	0.113019	0.062	0.0519	5008	,	,		21696	0.1627		0.1064	False		,,,				2504	0.181				p.G62C		Atlas-SNP	.											.	EDDM3A	15	.	0			c.G184T						PASS	.	G	CYS/GLY	286,4120	157.0+/-190.0	12,262,1929	106	107	107		184	0.2	0	14	dbSNP_126	107	922,7678	204.8+/-247.4	49,824,3427	yes	missense	EDDM3A	NM_006683.4	159	61,1086,5356	TT,TG,GG		10.7209,6.4911,9.288	probably-damaging	62/148	21215923	1208,11798	2203	4300	6503	SO:0001583	missense	10876	exon2			CTGAAAGGCAAGA	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.184G>T	14.37:g.21215923G>T	ENSP00000315098:p.Gly62Cys	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	261	161	0.616858	NM_006683	Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	CCDS9556.1	225	0.10302197802197802	27	0.054878048780487805	26	0.0718232044198895	94	0.16433566433566432	78	0.10290237467018469	G	11.97	1.797746	0.31777	0.064911	0.107209	ENSG00000181562	ENST00000326842	T	0.41758	0.99	2.46	0.182	0.15077	Ribonuclease A, domain (2);	1.031530	0.07726	N	0.944462	T	0.00241	0.0007	L	0.40543	1.245	0.80722	P	0.0	D	0.67145	0.996	P	0.62813	0.907	T	0.05225	-1.0898	9	0.62326	D	0.03	.	3.8521	0.08959	0.1757:0.3849:0.4394:0.0	rs34552133	62	Q14507	EP3A_HUMAN	C	62	ENSP00000315098:G62C	ENSP00000315098:G62C	G	+	1	0	EDDM3A	20285763	0.001000	0.12720	0.000000	0.03702	0.129000	0.20672	0.484000	0.22308	-0.138000	0.11434	0.313000	0.20887	GGC	T|0.100;G|0.900;A|0.000	0.100	strong		0.378	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			T	21215923	G	T	21215923	3	4	23	1	0	0	0	0	1	0	0	0	4909	1000	35	4	186	4	EDDM3A	14	21215923	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	275297	21215923	86133617	3288	19744										
EDDM3B	64184	hgsc.bcm.edu	37	chr14	21238318	21238318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggtgactgagatggcatcGtctctaaagatctggggcac	13	10	2	3	rs3827905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21238318G>A	ENST00000326783.3	+	2	107	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	3						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						AGATGGCATCGTCTCTAAAGA	0.483													G|||	2765	0.552117	0.1929	0.5461	5008	,	,		18089	0.7262		0.6948	False		,,,				2504	0.7157				p.S3S		Atlas-SNP	.											.	EDDM3B	23	.	0			c.G9A						PASS	.	G		1267,3139	429.3+/-342.2	181,905,1117	52	52	52		9	-3.1	0	14	dbSNP_107	52	5679,2921	670.0+/-402.7	1873,1933,494	no	coding-synonymous	EDDM3B	NM_022360.4		2054,2838,1611	AA,AG,GG		33.9651,28.7562,46.5939		3/148	21238318	6946,6060	2203	4300	6503	SO:0001819	synonymous_variant	64184	exon2			GGCATCGTCTCTA	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.9G>A	14.37:g.21238318G>A		Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	180	105	0.583333	NM_022360	A0PK89	Silent	SNP	ENST00000326783.3	37	CCDS9557.1																																																																																			G|0.447;A|0.553	0.553	strong		0.483	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			A	21238318	G	A	21238318	2	1	23	1	0	0	0	0	0	0	0	1	4910	1132	40	1		1	EDDM3B	14	21238318	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	22395	21238318	86111222	3289	19745										
RNASE1	6035	hgsc.bcm.edu	37	chr14	21269990	21269990	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagacattctggacatctaCcaggggctcgtgcacaaagg	11	11	2	1	rs142457376	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21269990C>G	ENST00000397967.4	-	2	744	c.238G>C	c.(238-240)Gta>Cta	p.V80L	RNASE1_ENST00000555698.1_Missense_Mutation_p.V40L|RNASE1_ENST00000340900.3_Missense_Mutation_p.V80L|RNASE1_ENST00000412779.2_Missense_Mutation_p.V80L|RNASE1_ENST00000397970.4_Missense_Mutation_p.V80L	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	80					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	TGGACATCTACCAGGGGCTCG	0.552													C|||	5	0.000998403	0.0008	0.0029	5008	,	,		19291	0.0		0.002	False		,,,				2504	0.0				p.V80L		Atlas-SNP	.											.	RNASE1	14	.	0			c.G238C						PASS	.	C	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	150	135	140		238,238,238,238	0.8	0	14	dbSNP_134	140	13,8587	9.1+/-34.3	0,13,4287	yes	missense,missense,missense,missense	RNASE1	NM_002933.4,NM_198232.2,NM_198234.2,NM_198235.2	32,32,32,32	0,15,6488	GG,GC,CC		0.1512,0.0454,0.1153	benign,benign,benign,benign	80/157,80/157,80/157,80/157	21269990	15,12991	2203	4300	6503	SO:0001583	missense	6035	exon3			CATCTACCAGGGG	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.238G>C	14.37:g.21269990C>G	ENSP00000381057:p.Val80Leu	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	274	105	0.383212	NM_198235	B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Missense_Mutation	SNP	ENST00000397967.4	37	CCDS9559.1	4	0.0018315018315018315	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	13.62	2.292413	0.40594	4.54E-4	0.001512	ENSG00000129538	ENST00000397967;ENST00000340900;ENST00000412779;ENST00000555698;ENST00000397970	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.16	0.835	0.18886	Ribonuclease A, domain (4);	1.935630	0.02411	N	0.081637	T	0.73976	0.3656	M	0.70275	2.135	0.09310	N	1	P	0.36125	0.538	P	0.53912	0.737	T	0.54833	-0.8234	10	0.31617	T	0.26	0.5203	3.9548	0.09385	0.1528:0.4635:0.2973:0.0864	.	80	P07998	RNAS1_HUMAN	L	80;80;80;40;80	ENSP00000381057:V80L;ENSP00000344193:V80L;ENSP00000399493:V80L;ENSP00000451058:V40L;ENSP00000381060:V80L	ENSP00000344193:V80L	V	-	1	0	RNASE1	20339830	0.000000	0.05858	0.016000	0.15963	0.470000	0.32858	-0.294000	0.08309	0.282000	0.22254	0.655000	0.94253	GTA	C|0.998;G|0.002	0.002	strong		0.552	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			G	21269990	C	G	21269990	3	3	23	1	0	0	0	0	1	0	0	0	13399	507	18	4	236	4	RNASE1	14	21269990	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31672	21269990	86079550	3290	19746										
FLJ10357	55701	hgsc.bcm.edu	37	chr14	21542753	21542753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccaccggagacaccgggcGtggatgcaccagaagggcct	15	14	0	2	rs1243472	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21542753G>A	ENST00000298694.4	+	3	991	c.864G>A	c.(862-864)gcG>gcA	p.A288A	ARHGEF40_ENST00000298693.3_Silent_p.A288A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	288	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GACACCGGGCGTGGATGCACC	0.721													G|||	1212	0.242013	0.1452	0.1369	5008	,	,		16369	0.4762		0.2117	False		,,,				2504	0.2372				p.A288A		Atlas-SNP	.											.	ARHGEF40	84	.	0			c.G864A						PASS	.	G		628,3730		45,538,1596	9	12	11		864	-10.2	0.1	14	dbSNP_87	11	1636,6912		158,1320,2796	no	coding-synonymous	ARHGEF40	NM_018071.3		203,1858,4392	AA,AG,GG		19.139,14.4103,17.5422		288/1520	21542753	2264,10642	2179	4274	6453	SO:0001819	synonymous_variant	55701	exon3			CCGGGCGTGGATG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.864G>A	14.37:g.21542753G>A		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	33	22	0.666667	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	CCDS32041.1																																																																																			G|0.741;A|0.259	0.259	strong		0.721	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			A	21542753	G	A	21542753	2	1	23	1	0	0	0	0	0	0	0	1	5926	1132	40	1		1	FLJ10357	14	21542753	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	272763	21542753	85806787	3291	19747										
RPGRIP1	57096	hgsc.bcm.edu	37	chr14	21790040	21790040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaggcaatgatgacaaaaGctgacaatgataatagagat	11	4	0	5	rs10151259	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21790040G>T	ENST00000400017.2	+	13	1639	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.A520S|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.A520S|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.A189S|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.A547S	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	547			A -> S (in CORD13; dbSNP:rs10151259). {ECO:0000269|PubMed:10958648, ECO:0000269|PubMed:12920076}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATGACAAAAGCTGACAATGA	0.393													G|||	838	0.167332	0.2315	0.1412	5008	,	,		20902	0.004		0.2366	False		,,,				2504	0.1963				p.A547S		Atlas-SNP	.											.	RPGRIP1	213	.	0			c.G1639T	GRCh37	CM032029	RPGRIP1	M	rs10151259	PASS	.	G	SER/ALA	775,3007		86,603,1202	80	76	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1639	3	1	14	dbSNP_119	77	2017,6207		230,1557,2325	yes	missense	RPGRIP1	NM_020366.3	99	316,2160,3527	TT,TG,GG		24.5258,20.4918,23.255	probably-damaging	547/1287	21790040	2792,9214	1891	4112	6003	SO:0001583	missense	57096	exon13			ACAAAAGCTGACA	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1639G>T	14.37:g.21790040G>T	ENSP00000382895:p.Ala547Ser	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	171	56	0.327485	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	352	0.16117216117216118	115	0.23373983739837398	55	0.15193370165745856	0	0.0	182	0.24010554089709762	G	13.80	2.344142	0.41498	0.204918	0.245258	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.79554	-0.1;-0.86;-0.9;-0.9;-0.47;-1.22;-1.28	4.86	3.04	0.35103	.	0.320649	0.34223	N	0.004147	T	0.00073	0.0002	L	0.52266	1.64	0.09310	P	0.99999999479642	D;D;D;D	0.89917	1.0;0.97;1.0;1.0	D;P;D;D	0.91635	0.999;0.747;0.999;0.998	T	0.14117	-1.0484	9	0.29301	T	0.29	-9.0074	5.6994	0.17873	0.1672:0.0:0.6767:0.1561	rs61722408	22;189;163;547	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	S	520;520;547;547;189;22;20	ENSP00000450445:A520S;ENSP00000451219:A520S;ENSP00000382895:A547S;ENSP00000206660:A547S;ENSP00000372391:A189S;ENSP00000451262:A22S;ENSP00000450426:A20S	ENSP00000206660:A547S	A	+	1	0	RPGRIP1	20859880	0.990000	0.36364	0.991000	0.47740	0.402000	0.30811	0.774000	0.26675	0.777000	0.33496	-0.384000	0.06662	GCT	A|0.059;C|0.298	.	strong		0.393	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21790040	G	T	21790040	3	4	23	1	0	0	0	0	1	0	0	0	13549	971	34	4	1689	4	RPGRIP1	14	21790040	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	247287	21790040	85559500	3292	19748										
RPGRIP1	57096	hgsc.bcm.edu	37	chr14	21792811	21792811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgcttatggcacccgaccGttgtcgttatgtttggaaac	11	9	0	0	rs9322965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21792811G>A	ENST00000400017.2	+	14	1797	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8H|RPGRIP1_ENST00000557771.1_Silent_p.P561P|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Silent_p.P599P	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	599					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCACCCGACCGTTGTCGTTAT	0.478													G|||	925	0.184704	0.2421	0.1427	5008	,	,		21117	0.0188		0.2336	False		,,,				2504	0.2577				p.P599P		Atlas-SNP	.											.	RPGRIP1	213	.	0			c.G1797A						PASS	.	G		835,3111		96,643,1234	125	117	120	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1797	3.2	0.1	14	dbSNP_119	120	1996,6294		228,1540,2377	no	coding-synonymous	RPGRIP1	NM_020366.3		324,2183,3611	AA,AG,GG		24.0772,21.1607,23.1366		599/1287	21792811	2831,9405	1973	4145	6118	SO:0001819	synonymous_variant	57096	exon14			CCGACCGTTGTCG	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1797G>A	14.37:g.21792811G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1	357	0.16346153846153846	115	0.23373983739837398	56	0.15469613259668508	6	0.01048951048951049	180	0.23746701846965698	G	8.657	0.899673	0.17686	0.211607	0.240772	ENSG00000092200	ENST00000307974	T	0.79454	-1.27	5.28	3.17	0.36434	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.04320	-1.0960	7	0.37606	T	0.19	-0.1041	2.6329	0.04950	0.2604:0.0:0.3544:0.3852	rs9322965;rs59052867;rs9322965	8	Q96KN7-3	.	H	8	ENSP00000309721:R8H	ENSP00000309721:R8H	R	+	2	0	RPGRIP1	20862651	0.000000	0.05858	0.052000	0.19188	0.972000	0.66771	-0.363000	0.07593	0.534000	0.28695	0.655000	0.94253	CGT	G|0.856;A|0.144	0.144	strong		0.478	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21792811	G	A	21792811	2	1	23	1	0	0	0	0	0	0	0	1	13549	1132	40	1		1	RPGRIP1	14	21792811	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2771	21792811	85556729	3293	19749										
SUPT16H	11198	hgsc.bcm.edu	37	chr14	21831419	21831419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttctgtaagtaatgctgcCcgagaacctcttcccaaaag	7	12	2	1	rs61746713	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21831419C>T	ENST00000216297.2	-	12	1706	c.1368G>A	c.(1366-1368)cgG>cgA	p.R456R		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	456					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTAATGCTGCCCGAGAACCTC	0.373													C|||	227	0.0453275	0.0076	0.0389	5008	,	,		18562	0.0		0.1203	False		,,,				2504	0.0706				p.R456R		Atlas-SNP	.											SUPT16H,NS,carcinoma,-1,1	SUPT16H	84	1	0			c.G1368A						PASS	.	C		122,4284	88.2+/-126.9	4,114,2085	80	82	81		1368	-0.9	1	14	dbSNP_129	81	1025,7573	218.1+/-256.6	57,911,3331	no	coding-synonymous	SUPT16H	NM_007192.3		61,1025,5416	TT,TC,CC		11.9214,2.769,8.8204		456/1048	21831419	1147,11857	2203	4299	6502	SO:0001819	synonymous_variant	11198	exon12			TGCTGCCCGAGAA	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1368G>A	14.37:g.21831419C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	94	58	0.617021	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																			C|0.925;T|0.075	0.075	strong		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			T	21831419	C	T	21831419	2	4	23	1	0	0	0	0	0	0	0	1	15393	610	22	2		2	SUPT16H	14	21831419	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38608	21831419	85518121	3294	19750										
CHD8	57680	hgsc.bcm.edu	37	chr14	21862616	21862616	+	Frame_Shift_Del	DEL	A	A	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacgtagacaccactcgatAaaaatcagtttgttcacgcc							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21862616delA	ENST00000557364.1	-	31	5682	c.5419delT	c.(5419-5421)tatfs	p.Y1807fs	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Frame_Shift_Del_p.Y1807fs|SNORD9_ENST00000362566.1_RNA|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000430710.3_Frame_Shift_Del_p.Y1528fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1807					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACCACTCGATAAAAATCAGTT	0.413																																					p.Y1807fs		Pindel,Atlas-Indel	.											.	CHD8	339	.	0			c.5420delA						PASS	.						53	52	52					14																	21862616		1958	4159	6117	SO:0001589	frameshift_variant	57680	exon30			.	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5419delT	14.37:g.21862616delA	ENSP00000451601:p.Tyr1807fs	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	156	30	0.192	NM_001170629	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	CCDS53885.1																																																																																			.	.	none		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21862616	A	-	21862616	7	5	23	1	0	1	0	1	0	0	0	0	3331	362	13	0	2358	0	CHD8	14	21862616	Frame_Shift_Del	DEL	A	TCGA-GR-7353-01A-11D-2210-10	31197	21862616	85486924	3295	19751										
TOX4	9878	hgsc.bcm.edu	37	chr14	21960816	21960816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgttgttaactccaccctTtcatcctatgtggcaaacca	5	12	1	0	rs1060722	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21960816T>C	ENST00000405508.1	+	8	1317	c.1041T>C	c.(1039-1041)ctT>ctC	p.L347L	TOX4_ENST00000262709.3_Silent_p.L347L|TOX4_ENST00000448790.2_Silent_p.L324L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	347						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ACTCCACCCTTTCATCCTATG	0.493													T|||	2482	0.495607	0.4281	0.3746	5008	,	,		18322	0.6488		0.503	False		,,,				2504	0.5072				p.L347L		Atlas-SNP	.											.	TOX4	50	.	0			c.T1041C						PASS	.	T		2066,2340	570.7+/-382.9	476,1114,613	114	116	116		1041	1.4	1	14	dbSNP_86	116	4318,4282	578.9+/-390.8	1124,2070,1106	no	coding-synonymous	TOX4	NM_014828.2		1600,3184,1719	CC,CT,TT		49.7907,46.8906,49.085		347/622	21960816	6384,6622	2203	4300	6503	SO:0001819	synonymous_variant	9878	exon7			CACCCTTTCATCC	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1041T>C	14.37:g.21960816T>C		Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	146	144	0.986301	NM_014828	B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	CCDS32043.1																																																																																			T|0.514;C|0.486	0.486	strong		0.493	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		C	21960816	T	C	21960816	2	2	23	1	0	0	0	0	0	0	0	1	16377	1828	64	2		2	TOX4	14	21960816	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	98200	21960816	85388724	3296	19752										
TOX4	9878	hgsc.bcm.edu	37	chr14	21960969	21960969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacagtggtgacctcccgGgggctccaactaggccaaac	12	15	0	1	rs7617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:21960969G>A	ENST00000405508.1	+	8	1470	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	TOX4_ENST00000262709.3_Silent_p.R398R|TOX4_ENST00000448790.2_Silent_p.R375R			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	398						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGACCTCCCGGGGGCTCCAAC	0.512													G|||	2480	0.495208	0.4274	0.3746	5008	,	,		18365	0.6488		0.502	False		,,,				2504	0.5072				p.R398R		Atlas-SNP	.											.	TOX4	50	.	0			c.G1194A						PASS	.	G		2060,2346	569.2+/-382.6	473,1114,616	92	100	98		1194	1.9	1	14	dbSNP_52	98	4322,4278	579.2+/-390.9	1127,2068,1105	no	coding-synonymous	TOX4	NM_014828.2		1600,3182,1721	AA,AG,GG		49.7442,46.7544,49.0697		398/622	21960969	6382,6624	2203	4300	6503	SO:0001819	synonymous_variant	9878	exon7			CTCCCGGGGGCTC	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1194G>A	14.37:g.21960969G>A		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	225	223	0.991111	NM_014828	B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	CCDS32043.1																																																																																			G|0.511;A|0.489	0.489	strong		0.512	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		A	21960969	G	A	21960969	2	1	23	1	0	0	0	0	0	0	0	1	16377	1219	43	2		2	TOX4	14	21960969	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	153	21960969	85388571	3297	19753										
OR10G3	26533	hgsc.bcm.edu	37	chr14	22038450	22038450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccagccacaagcaaggcGctcagcttagcagtcatgag	11	13	2	1	rs11626669	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:22038450G>A	ENST00000303532.1	-	1	425	c.426C>T	c.(424-426)agC>agT	p.S142S		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CAAGCAAGGCGCTCAGCTTAG	0.597													A|||	2364	0.472045	0.4402	0.6643	5008	,	,		20195	0.498		0.4125	False		,,,				2504	0.4131				p.S142S		Atlas-SNP	.											.	OR10G3	40	.	0			c.C426T						PASS	.	A		1949,2457	622.0+/-393.9	435,1079,689	60	59	59		426	-4.1	0	14	dbSNP_120	59	3769,4831	615.0+/-396.3	817,2135,1348	no	coding-synonymous	OR10G3	NM_001005465.1		1252,3214,2037	AA,AG,GG		43.8256,44.2351,43.9643		142/314	22038450	5718,7288	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			CAAGGCGCTCAGC		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.426C>T	14.37:g.22038450G>A		Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	146	143	0.979452	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			G|0.547;A|0.453	0.453	strong		0.597	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			A	22038450	G	A	22038450	2	1	23	1	0	0	0	0	0	0	0	1	10900	1078	38	1		1	OR10G3	14	22038450	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	77481	22038450	85311090	3298	19754										
OR10G3	26533	hgsc.bcm.edu	37	chr14	22038525	22038525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacctgtcataggccattagGgtgtagaggaagcactgggt	14	7	1	1	rs11626693	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:22038525G>T	ENST00000303532.1	-	1	350	c.351C>A	c.(349-351)acC>acA	p.T117T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGCCATTAGGGTGTAGAGGA	0.527													G|||	1822	0.363818	0.5371	0.2277	5008	,	,		21719	0.2966		0.3072	False		,,,				2504	0.3538				p.T117T		Atlas-SNP	.											.	OR10G3	40	.	0			c.C351A						PASS	.	G		2158,2248	583.6+/-385.9	549,1060,594	58	56	56		351	-3.3	0.1	14	dbSNP_120	56	2429,6171	401.1+/-347.0	347,1735,2218	no	coding-synonymous	OR10G3	NM_001005465.1		896,2795,2812	TT,TG,GG		28.2442,48.9787,35.2683		117/314	22038525	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			CATTAGGGTGTAG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.351C>A	14.37:g.22038525G>T		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	178	68	0.382022	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			G|0.656;T|0.344	0.344	strong		0.527	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			T	22038525	G	T	22038525	2	4	23	1	0	0	0	0	0	0	0	1	10900	1219	43	4		4	OR10G3	14	22038525	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	75	22038525	85311015	3299	19755										
OR10G2	26534	hgsc.bcm.edu	37	chr14	22102293	22102293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcccggcgcctcccatcagCggtgcgtatcttcaggatgg	14	14	3	0	rs41307110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:22102293C>T	ENST00000542433.1	-	1	803	c.706G>A	c.(706-708)Gct>Act	p.A236T		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTCCCATCAGCGGTGCGTATC	0.542																																					p.A236T		Atlas-SNP	.											OR10G2,NS,carcinoma,0,1	OR10G2	35	1	0			c.G706A						scavenged	.						39	41	40					14																	22102293		2179	4246	6425	SO:0001583	missense	26534	exon1			CATCAGCGGTGCG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.706G>A	14.37:g.22102293C>T	ENSP00000445383:p.Ala236Thr	Somatic	431	2	0.00464037		WXS	Illumina HiSeq	Phase_I	252	16	0.0634921	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	347	0.15888278388278387	55	0.11178861788617886	40	0.11049723756906077	137	0.2395104895104895	115	0.1517150395778364	c	2.861	-0.236170	0.05944	.	.	ENSG00000255582	ENST00000542433	T	0.00174	8.62	3.92	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.146443	0.31134	N	0.008190	T	0.00012	0.0000	L	0.41236	1.265	0.80722	P	0.0	B	0.29378	0.243	B	0.25506	0.061	T	0.41305	-0.9516	9	0.41790	T	0.15	-5.7356	13.1106	0.59270	0.0:0.9007:0.0:0.0993	rs41307110;rs41428047;rs61753936;rs41307110	236	Q8NGC3	O10G2_HUMAN	T	236	ENSP00000445383:A236T	ENSP00000445383:A236T	A	-	1	0	OR10G2	21172133	0.000000	0.05858	0.819000	0.32651	0.005000	0.04900	-0.178000	0.09782	0.045000	0.15804	-2.571000	0.00171	GCT	C|0.750;T|0.250	0.250	weak		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			T	22102293	C	T	22102293	3	4	23	1	0	0	0	0	1	0	0	0	10899	768	27	1	229	1	OR10G2	14	22102293	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63768	22102293	85247247	3300	19756										
OR10G2	26534	hgsc.bcm.edu	37	chr14	22102439	22102439	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggccagtctcaatactgcgCggatgtcacagataaagtaa	10	9	2	1	rs35963889	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:22102439C>G	ENST00000542433.1	-	1	657	c.560G>C	c.(559-561)cGc>cCc	p.R187P		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	187			R -> P (in dbSNP:rs35963889).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R187P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CAATACTGCGCGGATGTCACA	0.547													.|||	1907	0.380791	0.4682	0.2637	5008	,	,		18353	0.494		0.2694	False		,,,				2504	0.3436				p.R187P		Atlas-SNP	.											OR10G2,NS,carcinoma,0,2	OR10G2	35	2	1	Substitution - Missense(1)	stomach(1)	c.G560C						scavenged	.	G	PRO/ARG	1331,3073		375,581,1246	92	100	97		560	3.6	1	14	dbSNP_126	97	1182,7392		249,684,3354	no	missense	OR10G2	NM_001005466.1	103	624,1265,4600	GG,GC,CC		13.7859,30.2225,19.3635	benign	187/311	22102439	2513,10465	2202	4287	6489	SO:0001583	missense	26534	exon1			ACTGCGCGGATGT		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.560G>C	14.37:g.22102439C>G	ENSP00000445383:p.Arg187Pro	Somatic	473	4	0.00845666		WXS	Illumina HiSeq	Phase_I	429	154	0.358974	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	688	0.315018315018315	180	0.36585365853658536	83	0.2292817679558011	247	0.4318181818181818	178	0.23482849604221637	G	0.007	-1.995151	0.00435	0.302225	0.137859	ENSG00000255582	ENST00000542433	T	0.00026	8.94	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	N	0.000276	T	0.00012	0.0000	N	0.00028	-2.63	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04128	-1.0975	9	0.30854	T	0.27	-4.3413	10.8294	0.46652	0.0:0.194:0.8059:0.0	rs35963889;rs61748305;rs35963889	187	Q8NGC3	O10G2_HUMAN	P	187	ENSP00000445383:R187P	ENSP00000445383:R187P	R	-	2	0	OR10G2	21172279	0.000000	0.05858	0.959000	0.39883	0.694000	0.40290	0.593000	0.23999	0.753000	0.32945	-0.371000	0.07208	CGC	C|0.586;G|0.414	0.414	strong		0.547	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			G	22102439	C	G	22102439	3	3	23	1	0	0	0	0	1	0	0	0	10899	768	27	4	375	4	OR10G2	14	22102439	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	146	22102439	85247101	3301	19757										
OR10G2	26534	hgsc.bcm.edu	37	chr14	22102745	22102745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtaaaatccaaaataagcCgaggaacggtgactgaggag	13	6	0	2	rs41314525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:22102745C>A	ENST00000542433.1	-	1	351	c.254G>T	c.(253-255)cGg>cTg	p.R85L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	85			R -> L (in dbSNP:rs41314525).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CAAAATAAGCCGAGGAACGGT	0.527													.|||	1173	0.234225	0.2746	0.1859	5008	,	,		21829	0.2808		0.1948	False		,,,				2504	0.2065				p.R85L		Atlas-SNP	.											.	OR10G2	35	.	0			c.G254T						PASS	.	C	LEU/ARG	1087,3319	394.0+/-329.1	139,809,1255	61	56	58		254	1.6	0.5	14	dbSNP_127	58	1549,7051	291.1+/-300.1	144,1261,2895	yes	missense	OR10G2	NM_001005466.1	102	283,2070,4150	AA,AC,CC		18.0116,24.6709,20.2676	benign	85/311	22102745	2636,10370	2203	4300	6503	SO:0001583	missense	26534	exon1			ATAAGCCGAGGAA		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.254G>T	14.37:g.22102745C>A	ENSP00000445383:p.Arg85Leu	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	316	200	0.632911	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	525	0.2403846153846154	131	0.266260162601626	67	0.1850828729281768	169	0.29545454545454547	158	0.20844327176781002	C	3.673	-0.067195	0.07273	0.246709	0.180116	ENSG00000255582	ENST00000542433	T	0.03212	4.01	3.79	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.197894	0.24848	N	0.035104	T	0.00012	0.0000	L	0.45051	1.395	0.80722	P	0.0	B	0.12630	0.006	B	0.13407	0.009	T	0.48536	-0.9027	9	0.87932	D	0	-3.183	3.1156	0.06373	0.2243:0.5309:0.0:0.2448	rs41314525;rs61755908;rs41314525	85	Q8NGC3	O10G2_HUMAN	L	85	ENSP00000445383:R85L	ENSP00000445383:R85L	R	-	2	0	OR10G2	21172585	0.000000	0.05858	0.457000	0.27056	0.045000	0.14185	0.179000	0.16840	0.760000	0.33108	0.563000	0.77884	CGG	C|0.782;A|0.218	0.218	strong		0.527	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			A	22102745	C	A	22102745	3	1	23	1	0	0	0	0	1	0	0	0	10899	652	23	4	681	4	OR10G2	14	22102745	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	306	22102745	85246795	3302	19758										
MMP14	4323	hgsc.bcm.edu	37	chr14	23312594	23312594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggagaattttgtgctgcccGatgatgaccgccggggcatc	14	11	0	3	rs1042704	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23312594G>A	ENST00000311852.6	+	5	1078	c.817G>A	c.(817-819)Gat>Aat	p.D273N	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	273			D -> N (in dbSNP:rs1042704). {ECO:0000269|Ref.8}.		angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGTGCTGCCCGATGATGACCG	0.597													G|||	550	0.109824	0.0091	0.1311	5008	,	,		17770	0.0258		0.1988	False		,,,				2504	0.226				p.D273N		Atlas-SNP	.											.	MMP14	40	.	0			c.G817A						PASS	.	G	ASN/ASP	197,4209	122.5+/-159.9	2,193,2008	106	108	107		817	5.6	1	14	dbSNP_86	107	1747,6853	317.6+/-313.3	167,1413,2720	yes	missense	MMP14	NM_004995.2	23	169,1606,4728	AA,AG,GG		20.314,4.4712,14.9469	benign	273/583	23312594	1944,11062	2203	4300	6503	SO:0001583	missense	4323	exon5			CTGCCCGATGATG		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.817G>A	14.37:g.23312594G>A	ENSP00000308208:p.Asp273Asn	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	72	49	0.680556	NM_004995	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	231	0.10576923076923077	8	0.016260162601626018	53	0.1464088397790055	13	0.022727272727272728	157	0.20712401055408972	G	9.413	1.081018	0.20309	0.044712	0.20314	ENSG00000157227	ENST00000311852	T	0.20598	2.06	5.6	5.6	0.85130	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.143577	0.64402	D	0.000009	T	0.00012	0.0000	L	0.35414	1.06	0.18873	P	0.9999895192	B	0.12013	0.005	B	0.09377	0.004	T	0.29579	-1.0007	9	0.32370	T	0.25	.	18.3853	0.90464	0.0:0.0:1.0:0.0	rs1042704;rs3182168;rs17881628;rs52820031;rs60437546;rs1042704	273	P50281	MMP14_HUMAN	N	273	ENSP00000308208:D273N	ENSP00000308208:D273N	D	+	1	0	MMP14	22382434	1.000000	0.71417	0.979000	0.43373	0.140000	0.21249	4.763000	0.62257	2.644000	0.89710	0.563000	0.77884	GAT	G|0.873;A|0.127	0.127	strong		0.597	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		A	23312594	G	A	23312594	3	1	23	1	0	0	0	0	1	0	0	0	9653	1058	37	1	835	1	MMP14	14	23312594	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1209849	23312594	84036946	3303	19759										
REM2	161253	hgsc.bcm.edu	37	chr14	23354066	23354066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctcaggcctcatcctctgGctcgtctgactccttgggct	9	16	4	1	rs8014119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23354066G>C	ENST00000267396.4	+	2	410	c.287G>C	c.(286-288)gGc>gCc	p.G96A	REM2_ENST00000536884.1_Missense_Mutation_p.G96A	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	96			G -> A (in dbSNP:rs8014119).		small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCATCCTCTGGCTCGTCTGAC	0.622													G|||	536	0.107029	0.1755	0.1167	5008	,	,		17859	0.0347		0.1074	False		,,,				2504	0.0818				p.G96A		Atlas-SNP	.											.	REM2	21	.	0			c.G287C						PASS	.	G	ALA/GLY	654,3700		52,550,1575	39	45	43		287	5.1	1	14	dbSNP_116	43	713,7841		34,645,3598	yes	missense	REM2	NM_173527.2	60	86,1195,5173	CC,CG,GG		8.3353,15.0207,10.5903	benign	96/341	23354066	1367,11541	2177	4277	6454	SO:0001583	missense	161253	exon2			CCTCTGGCTCGTC		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.287G>C	14.37:g.23354066G>C	ENSP00000267396:p.Gly96Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	112	66	0.589286	NM_173527	B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	CCDS45082.1	246	0.11263736263736264	95	0.19308943089430894	43	0.11878453038674033	27	0.0472027972027972	81	0.10686015831134564	G	15.07	2.725068	0.48833	0.150207	0.083353	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.66638	-0.22;1.37	6.02	5.07	0.68467	.	0.455510	0.25178	N	0.032546	T	0.00109	0.0003	L	0.29908	0.895	0.25215	P	0.9899493	P;P	0.48503	0.911;0.457	B;B	0.43990	0.438;0.081	T	0.05683	-1.0870	9	0.15499	T	0.54	.	12.652	0.56766	0.0892:0.0:0.9108:0.0	rs8014119;rs52832581;rs8014119	96;96	B7Z5P1;Q8IYK8	.;REM2_HUMAN	A	96	ENSP00000267396:G96A;ENSP00000442774:G96A	ENSP00000267396:G96A	G	+	2	0	REM2	22423906	0.998000	0.40836	0.997000	0.53966	0.887000	0.51463	3.232000	0.51302	1.414000	0.47017	0.655000	0.94253	GGC	G|0.884;C|0.116	0.116	strong		0.622	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		C	23354066	G	C	23354066	3	2	23	1	0	0	0	0	1	0	0	0	13223	1203	42	4	293	4	REM2	14	23354066	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41472	23354066	83995474	3304	19760										
RBM23	55147	hgsc.bcm.edu	37	chr14	23371265	23371266	+	In_Frame_Ins	INS	-	-	GCA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcagcctgggcggcggcgINSgcagcagcagcagcagcagt					rs376457710|rs568447355	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23371265_23371266insGCA	ENST00000359890.3	-	12	1364_1365	c.1169_1170insTGC	c.(1168-1170)gcc>gcTGCc	p.390_390A>AA	RBM23_ENST00000346528.5_In_Frame_Ins_p.356_356A>AA|RBM23_ENST00000399922.2_In_Frame_Ins_p.374_374A>AA|RBM23_ENST00000542016.2_In_Frame_Ins_p.220_220A>AA|RBM23_ENST00000555209.1_In_Frame_Ins_p.140_140A>AA	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	390	Ala-rich.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGgcggcggcggcagcagcagc	0.554																																					p.A390delinsAA		Pindel,Atlas-Indel	.											.	RBM23	44	.	0			c.1170_1171insTGC						PASS	.																																			SO:0001652	inframe_insertion	55147	exon12			.	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1167_1169dupTGC	14.37:g.23371272_23371274dupGCA	ENSP00000352956:p.Ala393dup	Somatic	63	.	.		WXS	Illumina HiSeq	Phase_I	45	17	0.378	NM_001077351	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	In_Frame_Ins	INS	ENST00000359890.3	37	CCDS41921.1																																																																																			.	.	weak		0.554	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			GCA	23371266	-	GCA	23371265	7	5	23	1	0	1	1	0	0	0	0	0	13123	1103	39	0	161	0	RBM23	14	23371265	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	17199	23371265	83978275	3305	19761										
CDH24	64403	hgsc.bcm.edu	37	chr14	23523353	23523353	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaggcaggaggctaaccttGcggacagtgaggagcccgtc	15	11	0	1	rs139832060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23523353G>T	ENST00000267383.5	-	5	1061	c.969C>A	c.(967-969)cgC>cgA	p.R323R	CDH24_ENST00000487137.2_Silent_p.R323R|CDH24_ENST00000397359.3_Silent_p.R323R|CDH24_ENST00000554034.1_Silent_p.R323R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	323	Cadherin 3. {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)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTAACCTTGCGGACAGTGA	0.547													G|||	8	0.00159744	0.0	0.0029	5008	,	,		20441	0.0		0.0	False		,,,				2504	0.0061				p.R323R		Atlas-SNP	.											.	CDH24	129	.	0			c.C969A						PASS	.	G	,	4,4400		0,4,2198	78	72	74		969,969	0.3	1	14	dbSNP_134	74	41,8553		0,41,4256	yes	coding-synonymous,coding-synonymous	CDH24	NM_022478.3,NM_144985.3	,	0,45,6454	TT,TG,GG		0.4771,0.0908,0.3462	,	323/820,323/782	23523353	45,12953	2202	4297	6499	SO:0001819	synonymous_variant	64403	exon6			AACCTTGCGGACA	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.969C>A	14.37:g.23523353G>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	51	34	0.666667	NM_022478	D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	CCDS9585.1																																																																																			G|0.997;T|0.003	0.003	strong		0.547	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		T	23523353	G	T	23523353	2	4	23	1	0	0	0	0	0	0	0	1	3109	1306	46	4		4	CDH24	14	23523353	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	152088	23523353	83826187	3306	19762										
ACIN1	22985	hgsc.bcm.edu	37	chr14	23548783	23548784	+	In_Frame_Ins	INS	-	-	GAACGT													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgcttgatgctgaacgaINSgaacgtgaacgtgaccttga					rs78164858|rs148403158|rs61741621|rs5807202|rs3077646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23548783_23548784insGAACGT	ENST00000262710.1	-	6	2261_2262	c.1934_1935insACGTTC	c.(1933-1935)tct>tcACGTTCt	p.645_645S>SRS	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_In_Frame_Ins_p.587_587S>SRS|ACIN1_ENST00000555053.1_In_Frame_Ins_p.645_645S>SRS|ACIN1_ENST00000457657.1_In_Frame_Ins_p.605_605S>SRS	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	645	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGCTGAACGAGAACGTGAACG	0.485														1942	0.38778	0.5318	0.2637	5008	,	,		21370	0.4226		0.2664	False		,,,				2504	0.3701				p.S645delinsSRS		Atlas-Indel	.											.	ACIN1	147	.	0			c.1935_1936insACGTTC						PASS	.		,,	2635,143,113,3,1370		775,98,106,3,878,1,1,0,42,0,0,6,0,0,222					,,	-4.2	0.3		dbSNP_126	219	3073,1,288,0,4892		417,1,253,0,1985,0,0,0,0,0,0,35,0,0,1436	no	codingComplex,codingComplex,codingComplex	ACIN1	NM_014977.3,NM_001164815.1,NM_001164814.1	,,	1192,99,359,3,2863,1,1,0,42,0,0,41,0,0,1658	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		40.7318,38.2036,49.976	,,	,,		5708,144,401,3,6262				SO:0001652	inframe_insertion	22985	exon6			.	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1929_1934dupACGTTC	14.37:g.23548784_23548789dupGAACGT	ENSP00000262710:p.ArgSer647dup	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	294	53	0.180272	NM_014977	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	In_Frame_Ins	INS	ENST00000262710.1	37	CCDS9587.1																																																																																			.	.	strong		0.485	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		GAACGT	23548784	-	GAACGT	23548783	7	5	23	1	0	1	1	0	0	0	0	0	142	291	11	0	2293	0	ACIN1	14	23548783	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	25430	23548783	83800757	3307	19763										
SLC7A8	23428	hgsc.bcm.edu	37	chr14	23598976	23598976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgagtgtgtacatgtcGctggtgaccagcatcagcag	13	8	1	3	rs17183863	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23598976G>A	ENST00000316902.7	-	9	1871	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	SLC7A8_ENST00000422941.2_Silent_p.S158S|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Silent_p.S277S|SLC7A8_ENST00000453702.1_Silent_p.S179S	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	382					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGTACATGTCGCTGGTGACCA	0.498													G|||	524	0.104633	0.1331	0.0778	5008	,	,		20700	0.1438		0.0606	False		,,,				2504	0.09				p.S382S		Atlas-SNP	.											.	SLC7A8	54	.	0			c.C1146T						PASS	.	G	,	598,3808	262.2+/-264.8	43,512,1648	226	195	206		1146,537	-9.6	0.6	14	dbSNP_123	206	578,8022	154.9+/-209.1	19,540,3741	no	coding-synonymous,coding-synonymous	SLC7A8	NM_012244.2,NM_182728.1	,	62,1052,5389	AA,AG,GG		6.7209,13.5724,9.042	,	382/536,179/333	23598976	1176,11830	2203	4300	6503	SO:0001819	synonymous_variant	23428	exon9			CATGTCGCTGGTG	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1146C>T	14.37:g.23598976G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	176	67	0.380682	NM_012244	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	CCDS9590.1	235	0.10760073260073261	78	0.15853658536585366	26	0.0718232044198895	87	0.1520979020979021	44	0.05804749340369393	G	9.529	1.110304	0.20714	0.135724	0.067209	ENSG00000092068	ENST00000334354	.	.	.	5.86	-9.58	0.00559	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	20.7128	0.99707	0.8442:0.0:0.1558:0.0	rs17183863;rs17854736;rs52824765;rs58569778;rs17183863	.	.	.	X	179	.	ENSP00000334744:R179X	R	-	1	2	SLC7A8	22668816	0.000000	0.05858	0.616000	0.29078	0.953000	0.61014	-2.118000	0.01325	-2.000000	0.00965	-1.727000	0.00703	CGA	G|0.901;A|0.099	0.099	strong		0.498	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			A	23598976	G	A	23598976	2	1	23	1	0	0	0	0	0	0	0	1	14704	1078	38	1		1	SLC7A8	14	23598976	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	50193	23598976	83750564	3308	19764										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	156	26	0.166667	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	23	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	145853	23744829	83604711	3309	19765										
MYH6	4624	hgsc.bcm.edu	37	chr14	23862710	23862710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatccagcccagccatctcCtctgttaggttcttcacctg	6	16	5	0	rs145274612	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23862710C>T	ENST00000356287.3	-	22	2975	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	MYH6_ENST00000405093.3_Silent_p.E982E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	982					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGCCATCTCCTCTGTTAGGT	0.537													C|||	21	0.00419329	0.0	0.0101	5008	,	,		22617	0.0		0.0119	False		,,,				2504	0.002				p.E982E		Atlas-SNP	.											.	MYH6	274	.	0			c.G2946A						PASS	.	C		9,4397	15.5+/-35.6	0,9,2194	181	177	178		2946	3.3	1	14	dbSNP_134	178	103,8497	56.0+/-117.1	0,103,4197	no	coding-synonymous	MYH6	NM_002471.3		0,112,6391	TT,TC,CC		1.1977,0.2043,0.8611		982/1940	23862710	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	4624	exon23			CATCTCCTCTGTT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2946G>A	14.37:g.23862710C>T		Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	422	277	0.656398	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			C|0.992;T|0.008	0.008	strong		0.537	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23862710	C	T	23862710	2	4	23	1	0	0	0	0	0	0	0	1	10038	680	24	2		2	MYH6	14	23862710	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	117881	23862710	83486830	3310	19766										
MYH6	4624	hgsc.bcm.edu	37	chr14	23874507	23874507	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcactcctcttcttgccccGgtaggcggccaccacctcgg	9	19	3	0	rs2277473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23874507G>T	ENST00000356287.3	-	4	456	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	MYH6_ENST00000405093.3_Silent_p.R143R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	143	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCTTGCCCCGGTAGGCGGCC	0.612													G|||	389	0.0776757	0.0129	0.085	5008	,	,		18374	0.0675		0.1044	False		,,,				2504	0.1431				p.R143R		Atlas-SNP	.											.	MYH6	274	.	0			c.C427A						PASS	.	G		110,4296		1,108,2094	108	110	110		427	1.2	1	14	dbSNP_100	110	942,7658		54,834,3412	no	coding-synonymous	MYH6	NM_002471.3		55,942,5506	TT,TG,GG		10.9535,2.4966,8.0886		143/1940	23874507	1052,11954	2203	4300	6503	SO:0001819	synonymous_variant	4624	exon5			TGCCCCGGTAGGC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.427C>A	14.37:g.23874507G>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	216	131	0.606481	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			A|0.000;C|0.007	.	strong		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23874507	G	T	23874507	2	4	23	1	0	0	0	0	0	0	0	1	10038	1115	39	4		4	MYH6	14	23874507	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11797	23874507	83475033	3311	19767										
MYH7	4625	hgsc.bcm.edu	37	chr14	23902753	23902753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacccaccttgccatactcGgtctcggcagtgactttgcc	8	16	1	1	rs2069540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:23902753G>A	ENST00000355349.3	-	3	351	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	63					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCATACTCGGTCTCGGCAG	0.562													G|||	2606	0.520367	0.6392	0.4063	5008	,	,		22211	0.4137		0.4851	False		,,,				2504	0.5869				p.T63T		Atlas-SNP	.											.	MYH7	349	.	0			c.C189T						PASS	.	G		2698,1708	651.7+/-399.3	821,1056,326	124	96	106		189	-8.4	0.2	14	dbSNP_96	106	4163,4437	567.2+/-388.8	984,2195,1121	no	coding-synonymous	MYH7	NM_000257.2		1805,3251,1447	AA,AG,GG		48.407,38.7653,47.2474		63/1936	23902753	6861,6145	2203	4300	6503	SO:0001819	synonymous_variant	4625	exon3			ATACTCGGTCTCG	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.189C>T	14.37:g.23902753G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																			G|0.488;A|0.512	0.512	strong		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23902753	G	A	23902753	2	1	23	1	0	0	0	0	0	0	0	1	10039	1103	39	1		1	MYH7	14	23902753	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28246	23902753	83446787	3312	19768										
THTPA	79178	hgsc.bcm.edu	37	chr14	24026046	24026046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggctgcaggagttgggggGcaccctggagtaccgggtca	19	10	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24026046G>A	ENST00000288014.6	+	1	816	c.80G>A	c.(79-81)gGc>gAc	p.G27D	THTPA_ENST00000554789.1_Missense_Mutation_p.G27D|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.G27D|THTPA_ENST00000554970.1_Missense_Mutation_p.G27D|THTPA_ENST00000556015.1_Missense_Mutation_p.G27D|RP11-66N24.4_ENST00000555446.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	27	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GAGTTGGGGGGCACCCTGGAG	0.607																																					p.G27D		Atlas-SNP	.											.	THTPA	11	.	0			c.G80A						PASS	.						53	43	46					14																	24026046		2203	4300	6503	SO:0001583	missense	79178	exon2			TGGGGGGCACCCT	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.80G>A	14.37:g.24026046G>A	ENSP00000288014:p.Gly27Asp	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	158	93	0.588608	NM_001256321	D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799652	0.70567	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.91	0.674	0.17946	CYTH domain (2);CYTH-like domain (1);	0.428933	0.25484	N	0.030357	T	0.66268	0.2772	M	0.76170	2.325	0.28533	N	0.91246	P;D	0.56746	0.928;0.977	P;P	0.60473	0.564;0.875	T	0.71155	-0.4675	10	0.62326	D	0.03	-1.7363	20.3036	0.98618	0.0:0.7093:0.2907:0.0	.	27;27	G3V4J3;Q9BU02	.;THTPA_HUMAN	D	27	ENSP00000384580:G27D;ENSP00000288014:G27D;ENSP00000452281:G27D;ENSP00000451835:G27D;ENSP00000452465:G27D;ENSP00000450459:G27D	ENSP00000288014:G27D	G	+	2	0	THTPA	23095886	0.623000	0.27094	0.764000	0.31436	0.880000	0.50808	0.727000	0.25999	-0.142000	0.11354	0.655000	0.94253	GGC	.	.	none		0.607	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			A	24026046	G	A	24026046	3	1	23	1	0	0	0	0	1	0	0	0	15878	1203	42	2	82	2	THTPA	14	24026046	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	123293	24026046	83323494	3313	19769										
DHRS4	10901	hgsc.bcm.edu	37	chr14	24423007	24423007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtctgatccatgcacaagGcggggctgctaggcctctgt	14	11	2	1	rs17099455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24423007G>A	ENST00000313250.5	+	1	213	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	DHRS4_ENST00000397075.3_Missense_Mutation_p.A4T|DHRS4_ENST00000558581.1_Missense_Mutation_p.A4T|DHRS4_ENST00000421831.1_5'UTR|DHRS4_ENST00000397073.2_5'UTR|DHRS4_ENST00000308178.8_5'UTR|DHRS4_ENST00000559632.1_Missense_Mutation_p.A4T|DHRS4_ENST00000543741.2_Missense_Mutation_p.A4T|DHRS4_ENST00000558263.1_Missense_Mutation_p.A4T|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_5'UTR|DHRS4_ENST00000397074.3_Missense_Mutation_p.A4T	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	4					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CATGCACAAGGCGGGGCTGCT	0.662													.|||	988	0.197284	0.6135	0.1023	5008	,	,		16663	0.0099		0.0517	False		,,,				2504	0.045				p.A4T		Atlas-SNP	.											.	DHRS4	22	.	0			c.G10A						PASS	.	A	THR/ALA	2359,2047		647,1065,491	49	54	52		10	1.8	0	14	dbSNP_123	52	456,8144		13,430,3857	yes	missense	DHRS4	NM_021004.2	58	660,1495,4348	AA,AG,GG		5.3023,46.4594,21.6439	benign	4/279	24423007	2815,10191	2203	4300	6503	SO:0001583	missense	10901	exon1			CACAAGGCGGGGC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.10G>A	14.37:g.24423007G>A	ENSP00000326219:p.Ala4Thr	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	79	1	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	393	0.17994505494505494	312	0.6341463414634146	36	0.09944751381215469	8	0.013986013986013986	37	0.048812664907651716	.	10.41	1.343665	0.24339	0.535406	0.053023	ENSG00000157326	ENST00000313250;ENST00000397075;ENST00000397074;ENST00000543741	D;T;T;T	0.84298	-1.83;1.85;0.42;1.63	2.71	1.81	0.25067	.	0.882556	0.09474	N	0.797291	T	0.00012	0.0000	L	0.60455	1.87	0.48571	P	3.300000000000525E-4	B;B;B;B;B;B	0.16603	0.011;0.001;0.0;0.018;0.003;0.001	B;B;B;B;B;B	0.17722	0.009;0.003;0.002;0.019;0.003;0.002	T	0.44390	-0.9331	9	0.42905	T	0.14	.	5.8712	0.18805	0.149:0.0:0.851:0.0	rs17099455;rs52815329;rs17099455	4;4;4;4;4;4	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	T	4	ENSP00000326219:A4T;ENSP00000380265:A4T;ENSP00000380264:A4T;ENSP00000440508:A4T	ENSP00000326219:A4T	A	+	1	0	DHRS4	23492847	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.198000	0.32223	0.744000	0.32741	-0.346000	0.07831	GCG	G|0.795;A|0.205	0.205	strong		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24423007	G	A	24423007	3	1	23	1	0	0	0	0	1	0	0	0	4492	1203	42	2	12	2	DHRS4	14	24423007	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	396961	24423007	82926533	3314	19770			17	86		5	5	1414	N	G_C_A	7.974526e-05
DHRS4	10901	hgsc.bcm.edu	37	chr14	24423090	24423090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccgccgggacccgctcgcAaataaggtggccctggtaac	12	15	0	0	rs2273944	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24423090A>G	ENST00000313250.5	+	1	296	c.93A>G	c.(91-93)gcA>gcG	p.A31A	DHRS4_ENST00000397075.3_Silent_p.A31A|DHRS4_ENST00000558581.1_Silent_p.A31A|DHRS4_ENST00000421831.1_Silent_p.A13A|DHRS4_ENST00000397073.2_Silent_p.A13A|DHRS4_ENST00000308178.8_Silent_p.A13A|DHRS4_ENST00000559632.1_Silent_p.A31A|DHRS4_ENST00000543741.2_Silent_p.A31A|DHRS4_ENST00000558263.1_Silent_p.A31A|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Silent_p.A13A|DHRS4_ENST00000397074.3_Silent_p.A31A	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	31			A -> T (in dbSNP:rs1043442).		alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	ACCCGCTCGCAAATAAGGTGG	0.662													.|||	1415	0.282548	0.7973	0.1254	5008	,	,		15599	0.1359		0.0875	False		,,,				2504	0.0501				p.A31A		Atlas-SNP	.											.	DHRS4	22	.	0			c.A93G						PASS	.	G		3004,1398		1049,906,246	28	36	33		93	0.5	0.5	14	dbSNP_100	33	810,7782		36,738,3522	no	coding-synonymous	DHRS4	NM_021004.2		1085,1644,3768	GG,GA,AA		9.4274,31.7583,29.352		31/279	24423090	3814,9180	2201	4296	6497	SO:0001819	synonymous_variant	10901	exon1			GCTCGCAAATAAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.93A>G	14.37:g.24423090A>G		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	74	72	0.972973	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			A|0.694;G|0.306	0.306	strong		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			G	24423090	A	G	24423090	2	3	23	1	0	0	0	0	0	0	0	1	4492	117	5	2		2	DHRS4	14	24423090	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	83	24423090	82926450	3315	19771			17	86		5	5	1414	N	G_C_A	7.974526e-05
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424346	24424346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcggtggccacgctgcaGggggaggggctgagcgtgac	21	10	0	2	rs4981491		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24424346G>A	ENST00000313250.5	+	2	434	c.231G>A	c.(229-231)caG>caA	p.Q77Q	DHRS4_ENST00000397075.3_Silent_p.Q77Q|DHRS4_ENST00000558581.1_Silent_p.Q77Q|DHRS4_ENST00000421831.1_Silent_p.Q59Q|DHRS4_ENST00000397073.2_Silent_p.Q59Q|DHRS4_ENST00000308178.8_Silent_p.Q59Q|DHRS4_ENST00000559632.1_Silent_p.Q77Q|DHRS4_ENST00000543741.2_Silent_p.Q77Q|DHRS4_ENST00000558263.1_Silent_p.Q77Q|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Silent_p.Q59Q|DHRS4_ENST00000397074.3_Silent_p.Q77Q	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	77					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCACGCTGCAGGGGGAGGGGC	0.701																																					p.Q77Q		Atlas-SNP	.											.	DHRS4	22	.	0			c.G231A						PASS	.						37	42	40					14																	24424346		2203	4299	6502	SO:0001819	synonymous_variant	10901	exon2			GCTGCAGGGGGAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.231G>A	14.37:g.24424346G>A		Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	432	92	0.212963	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			.	.	weak		0.701	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24424346	G	A	24424346	2	1	23	1	0	0	0	0	0	0	0	1	4492	991	35	2		2	DHRS4	14	24424346	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1256	24424346	82925194	3316	19772			17	86		5	5	1414	N	G_C_A	7.974526e-05
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424367	24424367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggaggggctgagcgtgacGggcaccgtgtgccatgtggg	22	8	0	2	rs12147221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24424367G>A	ENST00000313250.5	+	2	455	c.252G>A	c.(250-252)acG>acA	p.T84T	DHRS4_ENST00000397075.3_Silent_p.T84T|DHRS4_ENST00000558581.1_Silent_p.T84T|DHRS4_ENST00000421831.1_Silent_p.T66T|DHRS4_ENST00000397073.2_Silent_p.T66T|DHRS4_ENST00000308178.8_Silent_p.T66T|DHRS4_ENST00000559632.1_Silent_p.T84T|DHRS4_ENST00000543741.2_Silent_p.T84T|DHRS4_ENST00000558263.1_Silent_p.T84T|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Silent_p.T66T|DHRS4_ENST00000397074.3_Silent_p.T84T	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	84					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGAGCGTGACGGGCACCGTGT	0.682													.|||	1006	0.200879	0.5998	0.1095	5008	,	,		15536	0.0099		0.0785	False		,,,				2504	0.0491				p.T84T		Atlas-SNP	.											.	DHRS4	22	.	0			c.G252A						PASS	.	G		2291,2115		588,1115,500	37	41	39		252	-6.6	0.3	14	dbSNP_120	39	612,7988		6,600,3694	no	coding-synonymous	DHRS4	NM_021004.2		594,1715,4194	AA,AG,GG		7.1163,48.0027,22.3205		84/279	24424367	2903,10103	2203	4300	6503	SO:0001819	synonymous_variant	10901	exon2			CGTGACGGGCACC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.252G>A	14.37:g.24424367G>A		Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	398	270	0.678392	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			G|0.796;A|0.204	0.204	strong		0.682	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24424367	G	A	24424367	2	1	23	1	0	0	0	0	0	0	0	1	4492	1103	39	1		1	DHRS4	14	24424367	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21	24424367	82925173	3317	19773			17	86		5	5	1414	N	G_C_A	7.974526e-05
DHRS4	10901	hgsc.bcm.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061				p.T102M		Atlas-SNP	.											DHRS4,NS,carcinoma,0,5	DHRS4	22	5	4	Substitution - Missense(4)	central_nervous_system(2)|lung(1)|kidney(1)	c.C305T						scavenged	.																																			SO:0001630	splice_region_variant	10901	exon2			TGGCCACGGTGAG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	278	57	0.205036	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG	.	.	none		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	T	24424420	C	T	24424420	5	4	23	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	53	24424420	82925120	3318	19774			17	86		5	5	1414	N	G_C_A	7.974526e-05
DHRS4	10901	hgsc.bcm.edu	37	chr14	24435538	24435538	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacagccttgctgggcctgaCcaagaccctggccatagagc							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24435538C>A	ENST00000313250.5	+	6	781	c.578C>A	c.(577-579)aCc>aAc	p.T193N	DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000558581.1_Missense_Mutation_p.T159N|DHRS4_ENST00000421831.1_Missense_Mutation_p.T141N|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397074.3_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	193					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T193N(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGGCCTGACCAAGACCCTG	0.502																																					p.T193N		Atlas-SNP	.											DHRS4,NS,carcinoma,0,1	DHRS4	22	1	1	Substitution - Missense(1)	kidney(1)	c.C578A						scavenged	.						181	156	165					14																	24435538		2200	4300	6500	SO:0001583	missense	10901	exon6			GCCTGACCAAGAC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.578C>A	14.37:g.24435538C>A	ENSP00000326219:p.Thr193Asn	Somatic	1014	1	0.000986193		WXS	Illumina HiSeq	Phase_I	1334	116	0.0869565	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.615720	0.28801	.	.	ENSG00000157326	ENST00000313250;ENST00000421831	T;T	0.32023	1.47;1.47	3.53	2.63	0.31362	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.115238	0.56097	N	0.000021	T	0.47691	0.1459	H	0.95504	3.68	0.80722	D	1	B;B	0.25105	0.118;0.023	B;B	0.32342	0.073;0.144	T	0.52155	-0.8613	10	0.54805	T	0.06	.	10.3016	0.43656	0.1993:0.8007:0.0:0.0	.	159;193	Q9BTZ2-4;Q9BTZ2	.;DHRS4_HUMAN	N	193;141	ENSP00000326219:T193N;ENSP00000404147:T141N	ENSP00000326219:T193N	T	+	2	0	DHRS4	23505378	1.000000	0.71417	0.992000	0.48379	0.683000	0.39861	3.158000	0.50723	0.608000	0.30000	-0.202000	0.12741	ACC	.	.	none		0.502	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24435538	C	A	24435538	3	1	23	1	0	0	0	0	1	0	0	0	4492	507	18	4	600	4	DHRS4	14	24435538	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11118	24435538	82914002	3319	19775	403	2								
DHRS4	10901	hgsc.bcm.edu	37	chr14	24435542	24435542	+	Missense_Mutation	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttgctgggcctgaccaaGaccctggccatagagctggc					rs11556285		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24435542G>T	ENST00000313250.5	+	6	785	c.582G>T	c.(580-582)aaG>aaT	p.K194N	DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000558581.1_Missense_Mutation_p.K160N|DHRS4_ENST00000421831.1_Missense_Mutation_p.K142N|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397074.3_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	194					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GCCTGACCAAGACCCTGGCCA	0.502																																					p.K194N		Atlas-SNP	.											.	DHRS4	22	.	0			c.G582T						PASS	.																																			SO:0001583	missense	10901	exon6			GACCAAGACCCTG	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.582G>T	14.37:g.24435542G>T	ENSP00000326219:p.Lys194Asn	Somatic	1032	1	0.000968992		WXS	Illumina HiSeq	Phase_I	1415	159	0.112367	NM_021004	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739826	0.30865	.	.	ENSG00000157326	ENST00000313250;ENST00000421831	T;T	0.46063	0.88;0.88	3.53	2.63	0.31362	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.294117	0.30639	N	0.009188	T	0.54838	0.1883	M	0.82056	2.57	0.80722	D	1	B;P	0.39862	0.326;0.692	B;P	0.52823	0.238;0.71	T	0.54609	-0.8268	10	0.72032	D	0.01	.	5.9644	0.19316	0.251:0.0:0.749:0.0	rs11556285;rs11556285	160;194	Q9BTZ2-4;Q9BTZ2	.;DHRS4_HUMAN	N	194;142	ENSP00000326219:K194N;ENSP00000404147:K142N	ENSP00000326219:K194N	K	+	3	2	DHRS4	23505382	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	1.961000	0.40432	0.599000	0.29845	0.580000	0.79431	AAG	G|0.998;T|0.002	0.002	weak		0.502	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			T	24435542	G	T	24435542	3	4	23	1	0	0	0	0	1	0	0	0	4492	933	33	4	604	4	DHRS4	14	24435542	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4	24435542	82913998	3320	19776	403	2								
DHRS4L2	317749	hgsc.bcm.edu	37	chr14	24459493	24459493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcggtggccacgctgcaGggggaggggctgagcgtgac	21	10	0	2	rs60865462	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24459493G>A	ENST00000335125.6	+	2	357	c.231G>A	c.(229-231)caG>caA	p.Q77Q	DHRS4L2_ENST00000545240.1_Silent_p.Q77Q|DHRS4L2_ENST00000382755.4_Silent_p.Q75Q|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.Q77Q|DHRS4L2_ENST00000537912.1_Silent_p.Q77Q|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000558753.1_Silent_p.Q77Q	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	75						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.Q77Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CCACGCTGCAGGGGGAGGGGC	0.692													g|||	757	0.151158	0.093	0.1354	5008	,	,		15450	0.2252		0.0885	False		,,,				2504	0.229				p.Q77Q		Atlas-SNP	.											DHRS4L2,NS,carcinoma,0,1	DHRS4L2	29	1	1	Substitution - coding silent(1)	stomach(1)	c.G231A						scavenged	.	G	,,,	319,4085	126.1+/-163.2	22,275,1905	36	39	38		147,,,231	0.6	0	14	dbSNP_129	38	653,7945	137.9+/-194.8	40,573,3686	no	coding-synonymous,utr-5,utr-5,coding-synonymous	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,	62,848,5591	AA,AG,GG		7.5948,7.2434,7.4758	,,,	49/171,,,77/233	24459493	972,12030	2202	4299	6501	SO:0001819	synonymous_variant	317749	exon2			GCTGCAGGGGGAG		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.231G>A	14.37:g.24459493G>A		Somatic	324	3	0.00925926		WXS	Illumina HiSeq	Phase_I	274	267	0.974453	NM_198083	Q3YLD4	Silent	SNP	ENST00000335125.6	37	CCDS9606.2																																																																																			G|0.911;A|0.089	0.089	strong		0.692	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24459493	G	A	24459493	2	1	23	1	0	0	0	0	0	0	0	1	4494	991	35	2		2	DHRS4L2	14	24459493	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23951	24459493	82890047	3321	19777										
DHRS4L2	317749	hgsc.bcm.edu	37	chr14	24459520	24459520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctgagcgtgacgggcacTgtgtgccatgtggggaaggc	20	8	0	2	rs45583341	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24459520T>C	ENST00000335125.6	+	2	384	c.258T>C	c.(256-258)acT>acC	p.T86T	DHRS4L2_ENST00000545240.1_Silent_p.T86T|DHRS4L2_ENST00000382755.4_Silent_p.T84T|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.T86T|DHRS4L2_ENST00000537912.1_Silent_p.T86T|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000558753.1_Silent_p.T86T	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	84						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGACGGGCACTGTGTGCCATG	0.677													N|||	815	0.16274	0.0968	0.1499	5008	,	,		14725	0.2262		0.1223	False		,,,				2504	0.2372				p.T86T		Atlas-SNP	.											DHRS4L2,colon,carcinoma,0,1	DHRS4L2	29	1	0			c.T258C						PASS	.	C	,,,	340,4060	773.1+/-413.9	24,292,1884	37	40	39		174,,,258	0.2	1	14	dbSNP_127	39	850,7746	759.3+/-407.5	63,724,3511	no	coding-synonymous,utr-5,utr-5,coding-synonymous	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,	87,1016,5395	CC,CT,TT		9.8883,7.7273,9.1567	,,,	58/171,,,86/233	24459520	1190,11806	2200	4298	6498	SO:0001819	synonymous_variant	317749	exon2			GGGCACTGTGTGC		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.258T>C	14.37:g.24459520T>C		Somatic	299	1	0.00334448		WXS	Illumina HiSeq	Phase_I	244	237	0.971311	NM_198083	Q3YLD4	Silent	SNP	ENST00000335125.6	37	CCDS9606.2																																																																																			T|0.868;C|0.132	0.132	strong		0.677	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			C	24459520	T	C	24459520	2	2	23	1	0	0	0	0	0	0	0	1	4494	1567	55	3		3	DHRS4L2	14	24459520	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	27	24459520	82890020	3322	19778										
DHRS4L2	317749	hgsc.bcm.edu	37	chr14	24470138	24470138	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtgccagaaatggagaaaCgagggtacagagagtgagag	17	4	0	4	rs1811890	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24470138C>T	ENST00000335125.6	+	4	601	c.475C>T	c.(475-477)Cga>Tga	p.R159*	DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Nonsense_Mutation_p.R157*|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000558753.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	157						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AATGGAGAAACGAGGGTACAG	0.547													c|||	645	0.128794	0.0416	0.1138	5008	,	,		21065	0.2232		0.0795	False		,,,				2504	0.2106				p.R159X		Atlas-SNP	.											DHRS4L2,NS,carcinoma,-1,1	DHRS4L2	29	1	0			c.C475T						PASS	.	C	stop/ARG,stop/ARG,,stop/ARG	172,4222		6,160,2031	70	76	74		289,172,,475	2.8	1	14	dbSNP_92	74	606,7988		11,584,3702	no	stop-gained,stop-gained,intron,stop-gained	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,	17,744,5733	TT,TC,CC		7.0514,3.9144,5.9901	,,,	97/171,58/132,,159/233	24470138	778,12210	2197	4297	6494	SO:0001587	stop_gained	317749	exon4			GAGAAACGAGGGT		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.475C>T	14.37:g.24470138C>T	ENSP00000334801:p.Arg159*	Somatic	639	1	0.00156495		WXS	Illumina HiSeq	Phase_I	1347	637	0.472903	NM_198083	Q3YLD4	Nonsense_Mutation	SNP	ENST00000335125.6	37	CCDS9606.2	257	0.11767399267399267	29	0.05894308943089431	40	0.11049723756906077	134	0.23426573426573427	54	0.0712401055408971	-	33	5.247139	0.95305	0.039144	0.070514	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000382755	.	.	.	3.76	2.84	0.33178	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.09310	P	0.999999999590057	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1511	0.42794	0.2015:0.7985:0.0:0.0	rs1811890;rs58573619;rs1811890	.	.	.	X	97;159;157	.	ENSP00000334801:R159X	R	+	1	2	DHRS4L2	23539978	1.000000	0.71417	0.999000	0.59377	0.668000	0.39293	2.341000	0.43983	0.536000	0.28733	0.194000	0.17425	CGA	.	.	weak		0.547	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			T	24470138	C	T	24470138	4	4	23	1	0	0	0	0	0	1	0	0	4494	528	19	1	489	1	DHRS4L2	14	24470138	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10618	24470138	82879402	3323	19779										
DHRS4L2	317749	hgsc.bcm.edu	37	chr14	24470690	24470691	+	Frame_Shift_Ins	INS	-	-	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacattagggtgaactgcctINSgcacctggacttatcaagac					rs368539076|rs374759434	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24470690_24470691insA	ENST00000335125.6	+	6	755_756	c.629_630insA	c.(628-633)ctgcacfs	p.H211fs	DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Frame_Shift_Ins_p.H209fs|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000537912.1_Frame_Shift_Ins_p.H136fs|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000558753.1_Frame_Shift_Ins_p.H136fs	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	209						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GTGAACTGCCTGCACCTGGACT	0.525													A|-|A|deletion	178	0.0355431	0.0076	0.0187	5008	,	,		17571	0.1022		0.0139	False		,,,				2504	0.0389				p.L210fs		Pindel,Atlas-Indel	.											.	DHRS4L2	29	.	0			c.629_630insA						PASS	.		,,,	146,4000		28,90,1955					,,,	2.5	1			148	336,7912		30,276,3818	no	frameshift,frameshift,frameshift,frameshift	DHRS4L2	NM_198083.3,NM_001193637.1,NM_001193636.1,NM_001193635.1	,,,	58,366,5773	A1A1,A1R,RR		4.0737,3.5215,3.889	,,,	,,,		482,11912				SO:0001589	frameshift_variant	317749	exon6			.		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	Exception_encountered	14.37:g.24470690_24470691insA	ENSP00000334801:p.His211fs	Somatic	936	.	.		WXS	Illumina HiSeq	Phase_I	144	73	0.507	NM_198083	Q3YLD4	Frame_Shift_Ins	INS	ENST00000335125.6	37	CCDS9606.2																																																																																			.	.	weak		0.525	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24470691	-	A	24470690	7	5	23	1	0	1	1	0	0	0	0	0	4494	1580	55	0	651	0	DHRS4L2	14	24470690	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	552	24470690	82878850	3324	19780										
DHRS4L1	728635	hgsc.bcm.edu	37	chr14	24517936	24517936	+	RNA	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttgctgggcctcaacaaGaccttggccatagagctggc					rs201609317	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24517936G>T	ENST00000558293.1	+	0	584					NR_102693.1																						GCCTCAACAAGACCTTGGCCA	0.493													G|||	148	0.0295527	0.0106	0.0115	5008	,	,		24710	0.0377		0.0139	False		,,,				2504	0.0757				p.K197N		Atlas-SNP	.											.	.	.	.	0			c.G591T						PASS	.	G	ASN/LYS	5,4401	4.2+/-10.8	0,5,2198	181	182	181		591	3.5	1	14	dbSNP_134	181	5,8595	1.2+/-3.3	0,5,4295	no	missense	DHRS4L1	NM_001082488.1	94	0,10,6493	TT,TG,GG		0.0581,0.1135,0.0769	probably-damaging	197/282	24517936	10,12996	2203	4300	6503			728635	exon8			CAACAAGACCTTG																													14.37:g.24517936G>T		Somatic	1054	1	0.000948767		WXS	Illumina HiSeq	Phase_I	1915	480	0.250653	NM_001082488		Missense_Mutation	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	G	4.561	0.104274	0.08731	0.001135	5.81E-4	ENSG00000225766	ENST00000397065	.	.	.	4.47	3.55	0.40652	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	.	.	.	.	T	0.72439	0.3460	M	0.89287	3.02	0.38516	D	0.948595	P	0.51653	0.947	P	0.58077	0.832	T	0.80390	-0.1402	7	0.72032	D	0.01	.	7.1481	0.25595	0.201:0.0:0.799:0.0	.	197	P0CG22	DR4L1_HUMAN	N	197	.	ENSP00000380255:K197N	K	+	3	2	AL136295.1	23587776	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	1.553000	0.36255	2.311000	0.77944	0.400000	0.26472	AAG	.	.	weak		0.493	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			T	24517936	G	T	24517936	1	4	23	0	1	0	0	0	0	0	0	0	4493	933	33	4		4	DHRS4L1	14	24517936	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	47246	24517936	82831604	3325	19781	404	2								
DHRS4L1	728635	hgsc.bcm.edu	37	chr14	24517940	24517940	+	RNA	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgggcctcaacaagaccTtggccatagagctggcccca					rs200157408	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24517940T>C	ENST00000558293.1	+	0	588					NR_102693.1																						CAACAAGACCTTGGCCATAGA	0.493													C|||	148	0.0295527	0.0106	0.0115	5008	,	,		23427	0.0377		0.0139	False		,,,				2504	0.0757				p.L199L		Atlas-SNP	.											.	.	.	.	0			c.T595C						PASS	.						180	181	181					14																	24517940		2203	4300	6503			728635	exon8			AAGACCTTGGCCA																													14.37:g.24517940T>C		Somatic	1050	0	0		WXS	Illumina HiSeq	Phase_I	1886	474	0.251326	NM_001082488		Silent	SNP	ENST00000558293.1	37																																																																																				.	.	weak		0.493	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			C	24517940	T	C	24517940	1	2	23	0	1	0	0	0	0	0	0	0	4493	1606	56	3		3	DHRS4L1	14	24517940	RNA	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4	24517940	82831600	3326	19782	404	2								
LRRC16B	90668	hgsc.bcm.edu	37	chr14	24534270	24534270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttcactttcgccggcccCggagcttcaagggggacagg	14	12	2	0	rs117833529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24534270C>T	ENST00000342740.5	+	33	3338	c.3184C>T	c.(3184-3186)Cgg>Tgg	p.R1062W	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R158W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1062				R -> W (in Ref. 2; CAD38886). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCGCCGGCCCCGGAGCTTCAA	0.716													C|||	108	0.0215655	0.0015	0.0418	5008	,	,		8025	0.0		0.0368	False		,,,				2504	0.0409				p.R1062W		Atlas-SNP	.											.	LRRC16B	120	.	0			c.C3184T						PASS	.	C	TRP/ARG	23,3751		0,23,1864	19	24	22		3184	2.8	1	14	dbSNP_132	22	255,7637		2,251,3693	yes	missense	LRRC16B	NM_138360.3	101	2,274,5557	TT,TC,CC		3.2311,0.6094,2.383	probably-damaging	1062/1373	24534270	278,11388	1887	3946	5833	SO:0001583	missense	90668	exon33			CGGCCCCGGAGCT	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3184C>T	14.37:g.24534270C>T	ENSP00000340467:p.Arg1062Trp	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	69	35	0.507246	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	46	0.021062271062271064	2	0.0040650406504065045	19	0.052486187845303865	0	0.0	25	0.032981530343007916	C	12.56	1.973870	0.34848	0.006094	0.032311	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.60797	1.2;0.16	4.66	2.77	0.32553	.	0.254810	0.20948	N	0.082818	T	0.29389	0.0732	L	0.59436	1.845	0.28233	N	0.926034	D;D	0.89917	1.0;0.999	D;P	0.80764	0.994;0.876	T	0.48725	-0.9010	10	0.87932	D	0	-13.2657	9.764	0.40550	0.3756:0.6244:0.0:0.0	.	158;1062	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	W	1062;158	ENSP00000340467:R1062W;ENSP00000334701:R158W	ENSP00000334701:R158W	R	+	1	2	LRRC16B	23604110	0.999000	0.42202	1.000000	0.80357	0.602000	0.36980	1.625000	0.37029	0.375000	0.24679	-0.348000	0.07805	CGG	C|0.976;T|0.024	0.024	strong		0.716	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		T	24534270	C	T	24534270	3	4	23	1	0	0	0	0	1	0	0	0	8972	643	23	1	3314	1	LRRC16B	14	24534270	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16330	24534270	82815270	3327	19783										
CPNE6	9362	hgsc.bcm.edu	37	chr14	24543808	24543808	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggaccaaagtgatcagctGgtctggagaactgaggttgg	16	6	2	3	rs2070343	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24543808G>C	ENST00000397016.2	+	7	878	c.567G>C	c.(565-567)ctG>ctC	p.L189L	CPNE6_ENST00000537691.1_Silent_p.L244L|CPNE6_ENST00000216775.2_Silent_p.L189L	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	189	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTGATCAGCTGGTCTGGAGAA	0.517													G|||	1337	0.266973	0.0862	0.1671	5008	,	,		21595	0.5714		0.175	False		,,,				2504	0.363				p.L189L		Atlas-SNP	.											.	CPNE6	40	.	0			c.G567C						PASS	.	G		386,4020	195.0+/-219.7	18,350,1835	97	98	98		567	2.2	1	14	dbSNP_96	98	1588,7012	297.3+/-303.3	138,1312,2850	no	coding-synonymous	CPNE6	NM_006032.2		156,1662,4685	CC,CG,GG		18.4651,8.7608,15.1776		189/558	24543808	1974,11032	2203	4300	6503	SO:0001819	synonymous_variant	9362	exon6			TCAGCTGGTCTGG	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.567G>C	14.37:g.24543808G>C		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	126	123	0.97619	NM_006032	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	CCDS9607.1																																																																																			G|0.789;C|0.211	0.211	strong		0.517	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			C	24543808	G	C	24543808	2	2	23	1	0	0	0	0	0	0	0	1	3816	1335	47	4		4	CPNE6	14	24543808	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9538	24543808	82805732	3328	19784										
DCAF11	80344	hgsc.bcm.edu	37	chr14	24587639	24587639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccgatatggccgtttccGtaaattcaagagcatcaagg	10	10	2	1	rs3825584	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24587639G>A	ENST00000446197.3	+	7	1347	c.620G>A	c.(619-621)cGt>cAt	p.R207H	DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.R207H|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107H|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	207			R -> H (in dbSNP:rs3825584). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.7}.		protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGCCGTTTCCGTAAATTCAAG	0.488													g|||	1989	0.397165	0.3351	0.4625	5008	,	,		23535	0.4355		0.3032	False		,,,				2504	0.4918				p.R207H		Atlas-SNP	.											.	.	.	.	0			c.G620A						PASS	.	G	HIS/ARG,HIS/ARG,HIS/ARG	1405,3001	461.1+/-352.8	229,947,1027	134	126	129		620,620,542	-5.3	0.7	14	dbSNP_107	129	2340,6260	391.3+/-343.6	326,1688,2286	yes	missense,missense,missense	DCAF11	NM_001163484.1,NM_025230.4,NM_181357.2	29,29,29	555,2635,3313	AA,AG,GG		27.2093,31.8883,28.7944	benign,benign,benign	207/547,207/547,181/521	24587639	3745,9261	2203	4300	6503	SO:0001583	missense	80344	exon7			GTTTCCGTAAATT	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.620G>A	14.37:g.24587639G>A	ENSP00000415556:p.Arg207His	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	216	138	0.638889	NM_025230	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	791	0.36217948717948717	167	0.3394308943089431	162	0.44751381215469616	230	0.4020979020979021	232	0.30606860158311344	g	11.67	1.708956	0.30322	0.318883	0.272093	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.41065	1.01;1.01	5.4	-5.29	0.02747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.537521	0.21749	N	0.069715	T	0.00012	0.0000	N	0.02539	-0.55	0.44603	P	0.0024290000000000145	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.0	T	0.48559	-0.9025	9	0.35671	T	0.21	-0.7512	13.2261	0.59914	0.4655:0.0:0.5345:0.0	rs3825584;rs58760613;rs3825584	181;107;207;207	Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;DCA11_HUMAN	H	207;181;107;181	ENSP00000380142:R107H;ENSP00000380146:R181H	ENSP00000323680:R207H	R	+	2	0	DCAF11	23657479	0.716000	0.27956	0.737000	0.30932	0.986000	0.74619	0.021000	0.13489	-1.098000	0.03038	-0.290000	0.09829	CGT	G|0.685;A|0.315	0.315	strong		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			A	24587639	G	A	24587639	3	1	23	1	0	0	0	0	1	0	0	0	4262	1145	40	1	642	1	DCAF11	14	24587639	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	43831	24587639	82761901	3329	19785										
CHMP4A	29082	hgsc.bcm.edu	37	chr14	24679877	24679877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctcatccacatcatctcCaaagcccataggccgagaaa	5	16	3	1	rs2295322	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24679877C>T	ENST00000609024.1	-	4	505	c.457G>A	c.(457-459)Gga>Aga	p.G153R	TM9SF1_ENST00000530611.1_Missense_Mutation_p.G153R|CHMP4A_ENST00000347519.6_Missense_Mutation_p.G196R|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Missense_Mutation_p.G153R|CHMP4A_ENST00000530996.1_Missense_Mutation_p.G48R|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	153	Intramolecular interaction with N- terminus. {ECO:0000250}.		G -> R (in dbSNP:rs2295322). {ECO:0000269|PubMed:14583093, ECO:0000269|PubMed:15489334}.	FG -> LLE (in Ref. 4; AAF29098). {ECO:0000305}.	endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		ACATCATCTCCAAAGCCCATA	0.517													C|||	1759	0.351238	0.2489	0.6196	5008	,	,		19262	0.2361		0.504	False		,,,				2504	0.2607				p.G196R		Atlas-SNP	.											.	CHMP4A	20	.	0			c.G586A						PASS	.	C	ARG/GLY	1230,3176	426.4+/-341.1	185,860,1158	214	170	185		586	4.3	1	14	dbSNP_100	185	4443,4157	587.9+/-392.3	1125,2193,982	yes	missense	CHMP4A	NM_014169.3	125	1310,3053,2140	TT,TC,CC		48.3372,27.9165,43.6183		196/266	24679877	5673,7333	2203	4300	6503	SO:0001583	missense	29082	exon4			CATCTCCAAAGCC	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.457G>A	14.37:g.24679877C>T	ENSP00000476412:p.Gly153Arg	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	240	81	0.3375	NM_014169	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37		840	0.38461538461538464	137	0.2784552845528455	223	0.6160220994475138	115	0.20104895104895104	365	0.4815303430079156	C	23.0	4.367327	0.82463	0.279165	0.516628	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.2	4.3	0.51218	.	0.161135	0.29868	N	0.010999	T	0.00012	0.0000	H	0.95884	3.735	0.32303	P	0.564775	P;D	0.54964	0.872;0.969	P;D	0.67103	0.675;0.949	T	0.47497	-0.9113	9	0.72032	D	0.01	-11.0912	10.6946	0.45892	0.348:0.652:0.0:0.0	rs2295322;rs11546886;rs17693554;rs52790353;rs61392271;rs2295322	153;196	Q9BY43;Q14D22	CHM4A_HUMAN;.	R	153;153;196;163	ENSP00000451949:G153R;ENSP00000433967:G153R;ENSP00000324205:G196R;ENSP00000432575:G163R	ENSP00000324205:G196R	G	-	1	0	TM9SF1;AL096870.1;RP11-468E2.1	23749717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.529000	0.67135	1.392000	0.46585	0.561000	0.74099	GGA	C|0.594;T|0.406	0.406	strong		0.517	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		T	24679877	C	T	24679877	3	4	23	1	0	0	0	0	1	0	0	0	3356	603	21	2	223	2	CHMP4A	14	24679877	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92238	24679877	82669663	3330	19786										
MDP1	145553	hgsc.bcm.edu	37	chr14	24683267	24683267	+	Frame_Shift_Del	DEL	A	A	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcctcaaggctggacctcAaaggcccagtttgggccttc					rs3215610|rs398102305	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24683267delA	ENST00000288087.7	-	6	605	c.494delT	c.(493-495)ttgfs	p.L165fs	TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000396833.2_Frame_Shift_Del_p.F118fs|CHMP4A_ENST00000530996.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	165						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						GCTGGACCTCAAAGGCCCAGT	0.418													AA|AAA|AA|insertion	1020	0.203674	0.4342	0.0807	5008	,	,		23163	0.2123		0.0686	False		,,,				2504	0.1094				p.L182fs		Pindel	.											.	.	.	.	0			c.546delG						PASS	.		,,,	1728,2536		344,1040,748	42	63	56		,,,	2.4	0.9	14	dbSNP_134	68	579,7675		25,529,3573	no	frameshift,frameshift,utr-3,frameshift	MDP1,NEDD8-MDP1	NM_138476.3,NM_001199823.1,NM_001199822.1,NM_001199821.1	,,,	369,1569,4321	A1A1,A1R,RR		7.0148,40.5253,18.4295	,,,	,,,	24683267	2307,10211	2162	4299	6461	SO:0001589	frameshift_variant	100528064	exon7			.	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.494delT	14.37:g.24683267delA	ENSP00000288087:p.Leu165fs	Somatic	151	.	.		WXS	Illumina HiSeq	Phase_I	207	83	0.401	NM_001199823	Q86Y84|Q8NAD9	Frame_Shift_Del	DEL	ENST00000288087.7	37	CCDS9620.1																																																																																			A|0.812;-|0.188	0.188	strong		0.418	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		-	24683267	A	-	24683267	7	5	23	1	0	1	0	1	0	0	0	0	9416	131	5	0	40	0	MDP1	14	24683267	Frame_Shift_Del	DEL	A	TCGA-GR-7353-01A-11D-2210-10	3390	24683267	82666273	3331	19787										
C14orf21	161424	hgsc.bcm.edu	37	chr14	24772373	24772373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccctggtgggggcctgtCgcagagttggggcctaccaa	16	11	0	1	rs147123517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24772373C>T	ENST00000267425.3	+	6	1330	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	NOP9_ENST00000396802.3_Missense_Mutation_p.R413C	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	413							poly(A) RNA binding (GO:0044822)										GGGGGCCTGTCGCAGAGTTGG	0.557													C|||	8	0.00159744	0.0	0.0014	5008	,	,		16884	0.0		0.007	False		,,,				2504	0.0				p.R413C		Atlas-SNP	.											.	.	.	.	0			c.C1237T						PASS	.	C	CYS/ARG	4,4402	6.2+/-15.9	0,4,2199	70	71	71		1237	4.2	1	14	dbSNP_134	71	45,8555	30.1+/-81.4	0,45,4255	yes	missense	C14orf21	NM_174913.1	180	0,49,6454	TT,TC,CC		0.5233,0.0908,0.3767	probably-damaging	413/637	24772373	49,12957	2203	4300	6503	SO:0001583	missense	161424	exon6			GCCTGTCGCAGAG		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1237C>T	14.37:g.24772373C>T	ENSP00000267425:p.Arg413Cys	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	281	94	0.33452	NM_174913	A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	CCDS9624.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	18.19	3.567896	0.65651	9.08E-4	0.005233	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32753	1.48;1.44	5.16	4.25	0.50352	.	0.224065	0.38897	N	0.001525	T	0.35189	0.0923	L	0.54323	1.7	0.43536	D	0.995829	D	0.76494	0.999	P	0.59288	0.855	T	0.23013	-1.0200	10	0.52906	T	0.07	-4.9362	11.1833	0.48642	0.4521:0.5479:0.0:0.0	.	413	Q86U38	CN021_HUMAN	C	413	ENSP00000267425:R413C;ENSP00000380020:R413C	ENSP00000267425:R413C	R	+	1	0	C14orf21	23842213	0.869000	0.29996	1.000000	0.80357	0.909000	0.53808	0.630000	0.24553	1.356000	0.45884	0.563000	0.77884	CGC	C|0.996;T|0.004	0.004	strong		0.557	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			T	24772373	C	T	24772373	3	4	23	1	0	0	0	0	1	0	0	0	1769	884	31	1	1259	1	C14orf21	14	24772373	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	89106	24772373	82577167	3332	19788										
C14orf21	161424	hgsc.bcm.edu	37	chr14	24772967	24772967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgcagagccctcatcccgGcaagtggcctgtgtgcctct	12	14	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24772967G>A	ENST00000267425.3	+	7	1407	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R	NOP9_ENST00000396802.3_Silent_p.R438R	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	438							poly(A) RNA binding (GO:0044822)	p.R438R(1)									CCTCATCCCGGCAAGTGGCCT	0.532																																					p.R438R		Atlas-SNP	.											C14orf21,colon,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G1314A						scavenged	.						77	73	74					14																	24772967		2203	4300	6503	SO:0001819	synonymous_variant	161424	exon7			ATCCCGGCAAGTG		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1314G>A	14.37:g.24772967G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	237	3	0.0126582	NM_174913	A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986581	0.18889	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.32	3.41	0.39046	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55541	-0.8125	4	.	.	.	-19.0835	8.7225	0.34449	0.0824:0.4059:0.5117:0.0	.	.	.	.	D	64	.	.	G	+	2	0	C14orf21	23842807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.331000	0.19733	1.411000	0.46957	0.655000	0.94253	GGC	.	.	none		0.532	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			A	24772967	G	A	24772967	2	1	23	1	0	0	0	0	0	0	0	1	1769	1190	42	2		2	C14orf21	14	24772967	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	594	24772967	82576573	3333	19789										
CIDEB	27141	hgsc.bcm.edu	37	chr14	24775287	24775287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtcaaaggtgaatcgggcGatgtccttgctgtgcttggg	15	8	1	1	rs139893717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24775287G>A	ENST00000336557.5	-	7	1695	c.393C>T	c.(391-393)atC>atT	p.I131I	LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000258807.5_Silent_p.I131I|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Silent_p.I131I			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	131					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TGAATCGGGCGATGTCCTTGC	0.527													G|||	8	0.00159744	0.0	0.0072	5008	,	,		21522	0.0		0.002	False		,,,				2504	0.001				p.I131I		Atlas-SNP	.											.	CIDEB	17	.	0			c.C393T						PASS	.	G		9,4397	15.5+/-35.6	0,9,2194	196	166	176		393	0.1	1	14	dbSNP_134	176	72,8528	43.1+/-100.9	1,70,4229	no	coding-synonymous	CIDEB	NM_014430.2		1,79,6423	AA,AG,GG		0.8372,0.2043,0.6228		131/220	24775287	81,12925	2203	4300	6503	SO:0001819	synonymous_variant	27141	exon6			TCGGGCGATGTCC	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.393C>T	14.37:g.24775287G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	83	53	0.638554	NM_014430	D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	37	CCDS32056.1																																																																																			G|0.995;A|0.005	0.005	strong		0.527	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			A	24775287	G	A	24775287	2	1	23	1	0	0	0	0	0	0	0	1	3426	1048	37	1		1	CIDEB	14	24775287	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2320	24775287	82574253	3334	19790										
NFATC4	4776	hgsc.bcm.edu	37	chr14	24843620	24843620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgaggaactggtactgacTggctccaacttcctgccaga	12	12	0	2	rs2295298	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24843620T>C	ENST00000250373.4	+	6	1962	c.1821T>C	c.(1819-1821)acT>acC	p.T607T	NFATC4_ENST00000555167.1_Silent_p.T142T|NFATC4_ENST00000557451.1_Silent_p.T537T|NFATC4_ENST00000556279.1_Silent_p.T639T|NFATC4_ENST00000554591.1_Silent_p.T670T|NFATC4_ENST00000424781.2_Silent_p.T620T|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000553879.1_Silent_p.T537T|NFATC4_ENST00000413692.2_Silent_p.T670T|NFATC4_ENST00000539237.2_Silent_p.T639T|NFATC4_ENST00000554344.1_Silent_p.T537T|NFATC4_ENST00000554966.1_Silent_p.T620T|NFATC4_ENST00000554050.1_Silent_p.T607T|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.T595T|NFATC4_ENST00000553708.1_Silent_p.T607T|NFATC4_ENST00000554473.1_Silent_p.T142T|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555590.1_Silent_p.T620T|NFATC4_ENST00000553469.1_Silent_p.T639T|NFATC4_ENST00000554661.1_Silent_p.T537T|NFATC4_ENST00000556759.1_Silent_p.T142T|NFATC4_ENST00000422617.3_Silent_p.T595T|NFATC4_ENST00000555453.1_Silent_p.T595T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	607	IPT/TIG.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGTACTGACTGGCTCCAACT	0.637													T|||	1425	0.284545	0.0741	0.3876	5008	,	,		17306	0.1528		0.5885	False		,,,				2504	0.319				p.T670T		Atlas-SNP	.											.	NFATC4	115	.	0			c.T2010C						PASS	.	T	,,,,	692,3714	290.7+/-281.1	61,570,1572	79	61	67		2010,1821,1611,2010,1821	-1.8	1	14	dbSNP_100	67	5202,3398	637.7+/-399.3	1559,2084,657	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFATC4	NM_001136022.1,NM_001198965.1,NM_001198966.1,NM_001198967.1,NM_004554.4	,,,,	1620,2654,2229	CC,CT,TT		39.5116,15.7059,45.3175	,,,,	670/965,607/795,537/833,670/858,607/903	24843620	5894,7112	2203	4300	6503	SO:0001819	synonymous_variant	4776	exon7			ACTGACTGGCTCC	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1821T>C	14.37:g.24843620T>C		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	191	189	0.989529	NM_001198967	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	CCDS9629.1																																																																																			T|0.629;C|0.371	0.371	strong		0.637	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		C	24843620	T	C	24843620	2	2	23	1	0	0	0	0	0	0	0	1	10365	1567	55	3		3	NFATC4	14	24843620	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	68333	24843620	82505920	3335	19791										
KHNYN	23351	hgsc.bcm.edu	37	chr14	24901433	24901433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggagggttctgtgtccaCcgtgagcctcccggtgccca	15	13	1	1	rs17795094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:24901433C>T	ENST00000251343.5	+	3	1105	c.966C>T	c.(964-966)caC>caT	p.H322H	KHNYN_ENST00000556842.1_Silent_p.H322H|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.H322H|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	322							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TCTGTGTCCACCGTGAGCCTC	0.647											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	392	0.0782748	0.0416	0.0965	5008	,	,		17135	0.0565		0.1014	False		,,,				2504	0.1135				p.H322H		Atlas-SNP	.											.	KHNYN	46	.	0			c.C966T						PASS	.	C		323,4083	170.5+/-200.9	12,299,1892	71	74	73		966	2.3	0.3	14	dbSNP_123	73	1147,7453	234.6+/-267.5	72,1003,3225	yes	coding-synonymous	KHNYN	NM_015299.2		84,1302,5117	TT,TC,CC		13.3372,7.3309,11.3025		322/679	24901433	1470,11536	2203	4300	6503	SO:0001819	synonymous_variant	23351	exon3			TGTCCACCGTGAG	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.966C>T	14.37:g.24901433C>T		Somatic	138	0	0	774	WXS	Illumina HiSeq	Phase_I	161	96	0.596273	NM_015299	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	CCDS32058.1																																																																																			C|0.904;T|0.096	0.096	strong		0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			T	24901433	C	T	24901433	2	4	23	1	0	0	0	0	0	0	0	1	8150	506	18	2		2	KHNYN	14	24901433	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	57813	24901433	82448107	3336	19792										
PRKD1	5587	hgsc.bcm.edu	37	chr14	30066929	30066929	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccggaaagacttctctccAatgatccgggcaaaaccaaa	7	13	1	2	rs2230505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:30066929A>G	ENST00000331968.5	-	16	2431	c.2202T>C	c.(2200-2202)atT>atC	p.I734I	PRKD1_ENST00000415220.2_Silent_p.I742I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTTCTCTCCAATGATCCGGG	0.478													A|||	2563	0.511781	0.851	0.4568	5008	,	,		14241	0.2113		0.3837	False		,,,				2504	0.5337				p.I734I		Atlas-SNP	.											.	PRKD1	316	.	0			c.T2202C						PASS	.	A		3369,1037	726.8+/-409.8	1298,773,132	58	62	61		2202	2.1	1	14	dbSNP_98	61	3258,5342	488.6+/-372.4	595,2068,1637	no	coding-synonymous	PRKD1	NM_002742.2		1893,2841,1769	GG,GA,AA		37.8837,23.5361,49.0466		734/913	30066929	6627,6379	2203	4300	6503	SO:0001819	synonymous_variant	5587	exon16			CTCTCCAATGATC		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2202T>C	14.37:g.30066929A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	71	32	0.450704	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																			T|0.088;G|0.396;C|0.100;A|0.416	0.396	strong		0.478	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		G	30066929	A	G	30066929	2	3	23	1	0	0	0	0	0	0	0	1	12518	126	5	2		2	PRKD1	14	30066929	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5165496	30066929	77282611	3337	19793										
SCFD1	23256	hgsc.bcm.edu	37	chr14	31099738	31099738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcctctgctatctgtgaAggagctaagagacatgggaa	11	9	3	2	rs229150	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:31099738A>G	ENST00000458591.2	+	3	415	c.188A>G	c.(187-189)aAg>aGg	p.K63R	SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000421551.3_Intron	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	63			K -> R (in dbSNP:rs229150). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTATCTGTGAAGGAGCTAAGA	0.323													A|||	2893	0.577676	0.7935	0.5029	5008	,	,		17065	0.7103		0.3608	False		,,,				2504	0.4254				p.K63R		Atlas-SNP	.											SCFD1,NS,carcinoma,0,1	SCFD1	43	1	0			c.A188G						PASS	.	A	ARG/LYS,	3123,1283	699.6+/-406.5	1127,869,207	152	159	157		188,	5.6	1	14	dbSNP_79	157	2940,5658	457.1+/-364.2	506,1928,1865	yes	missense,utr-5	SCFD1	NM_016106.2,NM_182835.1	26,	1633,2797,2072	GG,GA,AA		34.194,29.1194,46.6241	benign,	63/643,	31099738	6063,6941	2203	4299	6502	SO:0001583	missense	23256	exon3			CTGTGAAGGAGCT	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.188A>G	14.37:g.31099738A>G	ENSP00000390783:p.Lys63Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	150	57	0.38	NM_016106	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	1221	0.5590659340659341	388	0.7886178861788617	169	0.46685082872928174	405	0.708041958041958	259	0.341688654353562	A	15.51	2.853519	0.51270	0.708806	0.34194	ENSG00000092108	ENST00000458591;ENST00000557076	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.49126	1.545	0.09310	P	1.0	B	0.17667	0.023	B	0.32928	0.155	T	0.25676	-1.0125	9	0.42905	T	0.14	-17.8222	15.7861	0.78304	1.0:0.0:0.0:0.0	rs229150;rs230378;rs17362188;rs17851559;rs52794734;rs60052190;rs229150	63	Q8WVM8	SCFD1_HUMAN	R	63;38	ENSP00000390783:K63R;ENSP00000450755:K38R	ENSP00000309417:K71R	K	+	2	0	SCFD1	30169489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.719000	0.91436	2.129000	0.65627	0.528000	0.53228	AAG	G|0.519;N|0.000	0.519	strong		0.323	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		G	31099738	A	G	31099738	3	3	23	1	0	0	0	0	1	0	0	0	13889	72	3	3	198	3	SCFD1	14	31099738	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1032809	31099738	76249802	3338	19794										
C14orf126	112487	hgsc.bcm.edu	37	chr14	31922515	31922515	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttctttatcagctcccttGaaaaagcacacgtagatcac	6	11	3	2	rs61754291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:31922515G>A	ENST00000310850.4	-	2	263	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTD-2213F21.2_ENST00000502430.2_RNA|DTD2_ENST00000356180.4_Silent_p.F49F|RP11-176H8.1_ENST00000547378.1_Silent_p.F49F	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	49					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										CAGCTCCCTTGAAAAAGCACA	0.403													G|||	53	0.0105831	0.0	0.0058	5008	,	,		18506	0.0		0.0278	False		,,,				2504	0.0215				p.F49F		Atlas-SNP	.											.	.	.	.	0			c.C147T						PASS	.	G		33,4373	37.6+/-69.7	0,33,2170	115	110	112		147	4.8	1	14	dbSNP_129	112	351,8249	119.2+/-178.6	15,321,3964	yes	coding-synonymous	C14orf126	NM_080664.2		15,354,6134	AA,AG,GG		4.0814,0.749,2.9525		49/169	31922515	384,12622	2203	4300	6503	SO:0001819	synonymous_variant	112487	exon2			TCCCTTGAAAAAG	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.147C>T	14.37:g.31922515G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	85	83	0.976471	NM_080664	D3DS87	Silent	SNP	ENST00000310850.4	37	CCDS9643.1																																																																																			G|0.977;A|0.023	0.023	strong		0.403	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31922515	G	A	31922515	2	1	23	1	0	0	0	0	0	0	0	1	1743	1281	45	2		2	C14orf126	14	31922515	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	822777	31922515	75427025	3339	19795										
AKAP6	9472	hgsc.bcm.edu	37	chr14	33014876	33014876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgacaaatgctgctcaaccCtcctctgagactgtgcagca	8	14	2	2	rs375820695		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:33014876C>T	ENST00000280979.4	+	4	1187	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	AKAP6_ENST00000557354.1_Silent_p.P339P|AKAP6_ENST00000557272.1_Silent_p.P339P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	339					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTCAACCCTCCTCTGAGA	0.498																																					p.P339P	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.C1017T						PASS	.	C		0,4406		0,0,2203	71	62	65		1017	0.4	0	14		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AKAP6	NM_004274.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		339/2320	33014876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9472	exon4			TCAACCCTCCTCT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1017C>T	14.37:g.33014876C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	123	51	0.414634	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																			.	.	weak		0.498	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33014876	C	T	33014876	2	4	23	1	0	0	0	0	0	0	0	1	455	668	24	2		2	AKAP6	14	33014876	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1092361	33014876	74334664	3340	19796										
NPAS3	64067	hgsc.bcm.edu	37	chr14	34247747	34247747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacttcatccatgctgaagaCgtggagggcatcaggcacag	12	11	2	2	rs147070037	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:34247747C>T	ENST00000356141.4	+	9	1122	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	NPAS3_ENST00000357798.5_Silent_p.D361D|NPAS3_ENST00000551492.1_Silent_p.D379D|NPAS3_ENST00000346562.2_Silent_p.D342D|NPAS3_ENST00000548645.1_Silent_p.D344D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	374	PAC.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATGCTGAAGACGTGGAGGGCA	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		19225	0.0		0.003	False		,,,				2504	0.0				p.D374D		Atlas-SNP	.											.	NPAS3	266	.	0			c.C1122T						PASS	.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	117	102	107		1122,1032,1026,1083	-6.6	0.2	14	dbSNP_134	107	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,21,6482	TT,TC,CC		0.2326,0.0227,0.1615	,,,	374/934,344/904,342/902,361/921	34247747	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	64067	exon9			TGAAGACGTGGAG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1122C>T	14.37:g.34247747C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	166	108	0.650602	NM_001164749	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	8.823	0.937989	0.18206	2.27E-4	0.002326	ENSG00000151322	ENST00000552874	.	.	.	6.03	-6.63	0.01807	.	.	.	.	.	T	0.67552	0.2905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70385	-0.4886	4	.	.	.	.	19.2046	0.93724	0.0:0.2337:0.0:0.7663	.	.	.	.	M	121	.	.	T	+	2	0	NPAS3	33317498	0.002000	0.14202	0.183000	0.23137	0.952000	0.60782	-1.517000	0.02248	-1.491000	0.01840	-0.226000	0.12346	ACG	C|0.999;T|0.001	0.001	strong		0.493	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			T	34247747	C	T	34247747	2	4	23	1	0	0	0	0	0	0	0	1	10564	535	19	1		1	NPAS3	14	34247747	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1232871	34247747	73101793	3341	19797										
KIAA0391	9692	hgsc.bcm.edu	37	chr14	35735967	35735967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcaactagccaaacggaAtctgcgactgctggtcctag	9	13	2	0	rs11156878	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:35735967A>G	ENST00000557565.1	+	6	1691	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	KIAA0391_ENST00000321130.10_Missense_Mutation_p.N421S|KIAA0391_ENST00000605870.1_Missense_Mutation_p.N65S|KIAA0391_ENST00000603544.1_Missense_Mutation_p.N421S|KIAA0391_ENST00000250377.7_Missense_Mutation_p.N342S|KIAA0391_ENST00000604948.1_Missense_Mutation_p.N342S|KIAA0391_ENST00000534898.4_Missense_Mutation_p.N437S	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	437			N -> S (in dbSNP:rs11156878). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GCCAAACGGAATCTGCGACTG	0.473													A|||	488	0.0974441	0.0318	0.1268	5008	,	,		19353	0.0595		0.1879	False		,,,				2504	0.1115				p.N437S		Atlas-SNP	.											.	KIAA0391	35	.	0			c.A1310G						PASS	.	A	SER/ASN	268,4138	151.4+/-185.3	9,250,1944	210	201	204		1310	5.6	1	14	dbSNP_120	204	1446,7154	277.5+/-292.9	124,1198,2978	yes	missense	KIAA0391	NM_014672.2	46	133,1448,4922	GG,GA,AA		16.814,6.0826,13.1785	benign	437/584	35735967	1714,11292	2203	4300	6503	SO:0001583	missense	9692	exon6			AACGGAATCTGCG	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1310A>G	14.37:g.35735967A>G	ENSP00000454657:p.Asn437Ser	Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	272	158	0.580882	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	CCDS32063.1	227	0.10393772893772894	18	0.036585365853658534	52	0.143646408839779	26	0.045454545454545456	131	0.17282321899736147	A	14.91	2.675032	0.47781	0.060826	0.16814	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.46451	0.9;0.9;0.87;1.0	5.62	5.62	0.85841	.	0.166808	0.53938	D	0.000048	T	0.00144	0.0004	L	0.46885	1.475	0.32908	P	0.485866	B;B	0.25772	0.134;0.134	B;B	0.29862	0.108;0.108	T	0.08617	-1.0713	9	0.24483	T	0.36	-13.9399	14.8151	0.70028	1.0:0.0:0.0:0.0	rs11156878;rs60527017;rs11156878	421;437	O15091-2;O15091	.;MRRP3_HUMAN	S	342;342;421;437;421;65;65	ENSP00000250377:N342S;ENSP00000324697:N421S;ENSP00000440915:N437S;ENSP00000450898:N65S	ENSP00000250377:N342S	N	+	2	0	KIAA0391	34805718	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.276000	0.65580	2.142000	0.66516	0.528000	0.53228	AAT	A|0.882;G|0.118	0.118	strong		0.473	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		G	35735967	A	G	35735967	3	3	23	1	0	0	0	0	1	0	0	0	8172	101	4	2	1328	2	KIAA0391	14	35735967	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1488220	35735967	71613573	3342	19798										
PAX9	5083	hgsc.bcm.edu	37	chr14	37135752	37135752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccccgccgccgccccgcaCgcggtgaacgggttggagaa	14	16	0	2	rs12881240	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:37135752C>T	ENST00000361487.6	+	3	942	c.717C>T	c.(715-717)caC>caT	p.H239H	PAX9_ENST00000402703.2_Silent_p.H239H|PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000554201.1_Silent_p.H52H			P55771	PAX9_HUMAN	paired box 9	239					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCGCCCCGCACGCGGTGAACG	0.687													C|||	802	0.160144	0.0129	0.1196	5008	,	,		13934	0.3155		0.2167	False		,,,				2504	0.1697				p.H239H		Atlas-SNP	.											PAX9,NS,carcinoma,0,1	PAX9	34	1	0			c.C717T						scavenged	.	C		209,4153		6,197,1978	20	14	16		717	3.5	1	14	dbSNP_121	16	1756,6802		203,1350,2726	no	coding-synonymous	PAX9	NM_006194.3		209,1547,4704	TT,TC,CC		20.5188,4.7914,15.209		239/342	37135752	1965,10955	2181	4279	6460	SO:0001819	synonymous_variant	5083	exon4			CCCGCACGCGGTG	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.717C>T	14.37:g.37135752C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	221	3	0.0135747	NM_006194	Q99582|Q9UQR4	Silent	SNP	ENST00000361487.6	37	CCDS9662.1																																																																																			C|0.841;T|0.159	0.159	strong		0.687	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			T	37135752	C	T	37135752	2	4	23	1	0	0	0	0	0	0	0	1	11486	535	19	1		1	PAX9	14	37135752	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1399785	37135752	70213788	3343	19799										
SEC23A	10484	hgsc.bcm.edu	37	chr14	39517925	39517925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttatgatattctccaaaTttctgacactaaataaaata	2	7	3	2	rs11556216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:39517925T>C	ENST00000307712.6	-	15	2185	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K	SEC23A_ENST00000536508.1_Silent_p.K430K|SEC23A_ENST00000537403.1_Silent_p.K354K|SEC23A_ENST00000545328.2_Silent_p.K527K	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	556					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATTCTCCAAATTTCTGACACT	0.299													T|||	1241	0.247804	0.0673	0.281	5008	,	,		15501	0.3065		0.3509	False		,,,				2504	0.3016				p.K556K		Atlas-SNP	.											.	SEC23A	73	.	0			c.A1668G						PASS	.	T		506,3900	222.3+/-239.2	25,456,1722	55	62	60		1668	1.9	1	14	dbSNP_121	60	2946,5654	450.2+/-362.3	535,1876,1889	no	coding-synonymous	SEC23A	NM_006364.2		560,2332,3611	CC,CT,TT		34.2558,11.4843,26.5416		556/766	39517925	3452,9554	2203	4300	6503	SO:0001819	synonymous_variant	10484	exon15			TCCAAATTTCTGA	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1668A>G	14.37:g.39517925T>C		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_006364	B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	CCDS9668.1																																																																																			T|0.741;C|0.259	0.259	strong		0.299	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			C	39517925	T	C	39517925	2	2	23	1	0	0	0	0	0	0	0	1	13991	1490	52	2		2	SEC23A	14	39517925	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2382173	39517925	67831615	3344	19800										
CTAGE5	4253	hgsc.bcm.edu	37	chr14	39764176	39764176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaatgaagaacgactgaaGatagcaataaaagatgcttt	9	4	0	6	rs17855896	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:39764176G>C	ENST00000280083.3	+	8	929	c.615G>C	c.(613-615)aaG>aaC	p.K205N	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.K740N|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K130N|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K205N|CTAGE5_ENST00000396165.4_Missense_Mutation_p.K176N|CTAGE5_ENST00000396158.2_Missense_Mutation_p.K210N|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K176N|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K193N|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K176N|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K125N|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K205N			O15320	CTGE5_HUMAN	CTAGE family, member 5	205			K -> N (in dbSNP:rs17855896). {ECO:0000269|PubMed:15489334}.		positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AACGACTGAAGATAGCAATAA	0.328													G|||	96	0.0191693	0.0008	0.0288	5008	,	,		21174	0.001		0.0636	False		,,,				2504	0.0102				p.K210N		Atlas-SNP	.											.	CTAGE5	75	.	0			c.G630C						PASS	.	G	ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS	55,4351	54.9+/-90.9	1,53,2149	90	93	92		615,579,615,528	4.7	1	14	dbSNP_123	92	538,8062	149.1+/-204.2	11,516,3773	yes	missense,missense,missense,missense	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	94,94,94,94	12,569,5922	CC,CG,GG		6.2558,1.2483,4.5594	benign,benign,benign,benign	205/805,193/793,205/762,176/776	39764176	593,12413	2203	4300	6503	SO:0001583	missense	4253	exon8			ACTGAAGATAGCA	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.615G>C	14.37:g.39764176G>C	ENSP00000280083:p.Lys205Asn	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	335	198	0.591045	NM_001247989	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	60	0.027472527472527472	1	0.0020325203252032522	11	0.03038674033149171	1	0.0017482517482517483	47	0.06200527704485488	G	13.74	2.326136	0.41197	0.012483	0.062558	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.78481	2.28;-1.18;2.28;-1.18;-1.18;-0.59;-1.18;-0.59;-1.18;-1.18	5.69	4.69	0.59074	.	0.246033	0.21178	N	0.078874	T	0.28797	0.0714	M	0.72118	2.19	0.26845	N	0.968287	B;B;B;B;B;B	0.26935	0.164;0.042;0.044;0.023;0.025;0.023	B;B;B;B;B;B	0.30401	0.115;0.073;0.049;0.073;0.049;0.073	T	0.51108	-0.8747	9	.	.	.	.	9.1812	0.37143	0.132:0.0:0.868:0.0	rs17855896	167;210;205;205;176;193	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	N	740;193;125;167;176;205;210;205;130;205;176	ENSP00000452252:K740N;ENSP00000343897:K193N;ENSP00000450869:K125N;ENSP00000379468:K176N;ENSP00000339286:K205N;ENSP00000379462:K210N;ENSP00000280083:K205N;ENSP00000452562:K130N;ENSP00000343912:K205N;ENSP00000450449:K176N	.	K	+	3	2	CTAGE5;RP11-407N17.3	38833927	0.998000	0.40836	0.997000	0.53966	0.778000	0.44026	1.302000	0.33459	2.676000	0.91093	0.557000	0.71058	AAG	G|0.960;C|0.040	0.040	strong		0.328	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		C	39764176	G	C	39764176	3	2	23	1	0	0	0	0	1	0	0	0	3994	933	33	4	676	4	CTAGE5	14	39764176	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	246251	39764176	67585364	3345	19801										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45478260	45478260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtctctgtcttcctcaccaAacatcaattcttacagtgaa	4	13	5	1	rs139225809		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:45478260A>G	ENST00000361577.3	+	6	3263	c.3049A>G	c.(3049-3051)Aac>Gac	p.N1017D	FAM179B_ENST00000382233.2_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.N1017D|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1017	Ser-rich.									endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCCTCACCAAACATCAATTC	0.423													A|||	1	0.000199681	0.0	0.0014	5008	,	,		15443	0.0		0.0	False		,,,				2504	0.0				p.N1017D		Atlas-SNP	.											.	FAM179B	115	.	0			c.A3049G						PASS	.	A	ASP/ASN	1,4405	2.1+/-5.4	0,1,2202	119	108	112		3049	5.7	1	14	dbSNP_134	112	6,8594	5.0+/-18.6	0,6,4294	yes	missense	FAM179B	NM_015091.2	23	0,7,6496	GG,GA,AA		0.0698,0.0227,0.0538	probably-damaging	1017/1721	45478260	7,12999	2203	4300	6503	SO:0001583	missense	23116	exon6			TCACCAAACATCA	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3049A>G	14.37:g.45478260A>G	ENSP00000355045:p.Asn1017Asp	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	159	106	0.666667	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246111	0.80024	2.27E-4	6.98E-4	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462	T;T	0.04275	3.66;3.66	5.72	5.72	0.89469	Armadillo-type fold (1);	0.136815	0.51477	D	0.000095	T	0.08223	0.0205	L	0.29908	0.895	0.80722	D	1	P;P	0.50943	0.94;0.94	P;P	0.50659	0.647;0.57	T	0.36744	-0.9735	10	0.37606	T	0.19	-15.4805	14.9927	0.71401	1.0:0.0:0.0:0.0	.	1017;1017	G3XAE9;Q9Y4F4	.;F179B_HUMAN	D	1017	ENSP00000355045:N1017D;ENSP00000354917:N1017D	ENSP00000354917:N1017D	N	+	1	0	FAM179B	44548010	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.665000	0.46791	2.171000	0.68590	0.533000	0.62120	AAC	A|0.999;G|0.001	0.001	strong		0.423	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		G	45478260	A	G	45478260	3	3	23	1	0	0	0	0	1	0	0	0	5506	14	1	2	3071	2	FAM179B	14	45478260	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5714084	45478260	61871280	3346	19802										
FAM179B	23116	hgsc.bcm.edu	37	chr14	45481271	45481271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catattgctgaacaaagcccCagtgcaggtattctatgtct	8	10	2	1	rs144530053	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:45481271C>T	ENST00000361577.3	+	7	3445	c.3231C>T	c.(3229-3231)ccC>ccT	p.P1077P	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Silent_p.P1077P|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1077	Ser-rich.									endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACAAAGCCCCAGTGCAGGTA	0.308													C|||	17	0.00339457	0.0008	0.0086	5008	,	,		15361	0.0		0.0099	False		,,,				2504	0.0				p.P1077P		Atlas-SNP	.											.	FAM179B	115	.	0			c.C3231T						PASS	.	C		10,4388	15.5+/-35.6	0,10,2189	39	41	41		3231	5	0	14	dbSNP_134	41	163,8435	75.4+/-138.0	1,161,4137	no	coding-synonymous	FAM179B	NM_015091.2		1,171,6326	TT,TC,CC		1.8958,0.2274,1.3312		1077/1721	45481271	173,12823	2199	4299	6498	SO:0001819	synonymous_variant	23116	exon7			AAGCCCCAGTGCA	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3231C>T	14.37:g.45481271C>T		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	170	107	0.629412	NM_015091	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																			C|0.990;T|0.010	0.010	strong		0.308	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		T	45481271	C	T	45481271	2	4	23	1	0	0	0	0	0	0	0	1	5506	581	21	2		2	FAM179B	14	45481271	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3011	45481271	61868269	3347	19803										
RPL10L	140801	hgsc.bcm.edu	37	chr14	47120423	47120423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagcattaaacttcgtgaAgccccacttcttggagatat	8	10	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:47120423A>G	ENST00000298283.3	-	1	605	c.517T>C	c.(517-519)Ttc>Ctc	p.F173L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	173					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AACTTCGTGAAGCCCCACTTC	0.507																																					p.F173L		Atlas-SNP	.											RPL10L,bladder,carcinoma,+2,1	RPL10L	64	1	0			c.T517C						scavenged	.						100	99	100					14																	47120423		2203	4300	6503	SO:0001583	missense	140801	exon1			TCGTGAAGCCCCA	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.517T>C	14.37:g.47120423A>G	ENSP00000298283:p.Phe173Leu	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	171	2	0.0116959	NM_080746	Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515022	0.64634	.	.	ENSG00000165496	ENST00000298283	T	0.75704	-0.96	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (1);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.84433	2.695	0.80722	D	1	B	0.13594	0.008	B	0.12156	0.007	T	0.77474	-0.2574	10	0.87932	D	0	-23.7482	12.5486	0.56214	1.0:0.0:0.0:0.0	.	173	Q96L21	RL10L_HUMAN	L	173	ENSP00000298283:F173L	ENSP00000298283:F173L	F	-	1	0	RPL10L	46190173	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.588000	0.74076	2.279000	0.76181	0.533000	0.62120	TTC	.	.	none		0.507	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			G	47120423	A	G	47120423	3	3	23	1	0	0	0	0	1	0	0	0	13556	72	3	3	131	3	RPL10L	14	47120423	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1639152	47120423	60229117	3348	19804										
NIN	51199	hgsc.bcm.edu	37	chr14	51192659	51192659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggtgaacagagatgaccGggtaggctcacttgttcttt	14	7	2	3	rs1983764	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:51192659G>A	ENST00000382041.3	-	30	6394	c.6204C>T	c.(6202-6204)ccC>ccT	p.P2068P	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000245441.5_Intron|NIN_ENST00000382043.4_Silent_p.P1355P|NIN_ENST00000530997.2_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2068					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGAGATGACCGGGTAGGCTCA	0.398			T	PDGFRB	MPD								G|||	1225	0.244609	0.0303	0.2507	5008	,	,		20594	0.2966		0.3469	False		,,,				2504	0.3712				p.P2068P		Atlas-SNP	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN	475	.	0			c.C6204T						PASS	.	G	,,	384,4022	195.7+/-220.2	17,350,1836	233	203	213		4065,,6204	-4.4	0	14	dbSNP_92	213	3053,5547	470.4+/-367.8	530,1993,1777	no	coding-synonymous,intron,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182946.1	,,	547,2343,3613	AA,AG,GG		35.5,8.7154,26.4263	,,	1355/1378,,2068/2091	51192659	3437,9569	2203	4300	6503	SO:0001819	synonymous_variant	51199	exon30			ATGACCGGGTAGG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6204C>T	14.37:g.51192659G>A		Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	337	337	1	NM_182946	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	564	0.25824175824175827	24	0.04878048780487805	86	0.23756906077348067	183	0.31993006993006995	271	0.3575197889182058	G	6.376	0.437532	0.12104	0.087154	0.355	ENSG00000100503	ENST00000389869	.	.	.	5.93	-4.4	0.03600	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44298	-0.9337	3	.	.	.	.	1.1314	0.01746	0.3536:0.2034:0.297:0.146	rs1983764;rs52794699;rs59283049;rs1983764	.	.	.	W	1559	.	.	R	-	1	2	NIN	50262409	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-1.297000	0.02759	-1.103000	0.03019	-1.004000	0.02495	CGG	G|0.744;A|0.256	0.256	strong		0.398	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51192659	G	A	51192659	2	1	23	1	0	0	0	0	0	0	0	1	10417	1103	39	1		1	NIN	14	51192659	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4072236	51192659	56156881	3349	19805										
NIN	51199	hgsc.bcm.edu	37	chr14	51227000	51227000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggtgtgcgtttcgttctcAtgcctttgcttcatgttctc	9	10	3	0	rs4901055	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:51227000A>G	ENST00000382041.3	-	17	2164	c.1974T>C	c.(1972-1974)caT>caC	p.H658H	NIN_ENST00000389868.3_Silent_p.H658H|NIN_ENST00000324330.9_Silent_p.H658H|NIN_ENST00000245441.5_Silent_p.H658H|NIN_ENST00000382043.4_Silent_p.H658H|NIN_ENST00000453196.1_Silent_p.H658H|NIN_ENST00000530997.2_Silent_p.H658H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	658					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTCGTTCTCATGCCTTTGCT	0.478			T	PDGFRB	MPD								A|||	743	0.148363	0.3775	0.1138	5008	,	,		21891	0.004		0.1243	False		,,,				2504	0.0368				p.H658H		Atlas-SNP	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN	475	.	0			c.T1974C						PASS	.	A	,,,	1517,2889	444.3+/-347.3	258,1001,944	73	79	77		1974,1974,1974,1974	-0.7	0.6	14	dbSNP_111	77	1259,7341	243.5+/-273.1	111,1037,3152	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	369,2038,4096	GG,GA,AA		14.6395,34.4303,21.344	,,,	658/1378,658/2134,658/2047,658/2091	51227000	2776,10230	2203	4300	6503	SO:0001819	synonymous_variant	51199	exon17			GTTCTCATGCCTT	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1974T>C	14.37:g.51227000A>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_020921	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	341	0.15613553113553114	195	0.39634146341463417	48	0.13259668508287292	3	0.005244755244755245	95	0.12532981530343007	A	0.227	-1.023764	0.02061	0.344303	0.146395	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.93	-0.694	0.11294	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.99999822304	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5257	13.3399	0.60538	0.6236:0.0:0.3764:0.0	rs4901055;rs59513340;rs4901055	.	.	.	R	149	.	.	X	-	1	0	NIN	50296750	0.002000	0.14202	0.582000	0.28627	0.047000	0.14425	-0.071000	0.11505	-0.332000	0.08489	-1.431000	0.01090	TGA	A|0.812;G|0.188	0.188	strong		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		G	51227000	A	G	51227000	2	3	23	1	0	0	0	0	0	0	0	1	10417	214	8	2		2	NIN	14	51227000	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	34341	51227000	56122540	3350	19806										
ABHD12B	145447	hgsc.bcm.edu	37	chr14	51370852	51370852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcaagatggttatctttCctcctggcttccaacacaac	8	12	2	1	rs34800262	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:51370852C>G	ENST00000337334.2	+	12	1018	c.1003C>G	c.(1003-1005)Cct>Gct	p.P335A	ABHD12B_ENST00000353130.1_Missense_Mutation_p.P258A|ABHD12B_ENST00000395752.1_Missense_Mutation_p.P228A|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	335							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGTTATCTTTCCTCCTGGCTT	0.443													C|||	596	0.11901	0.0983	0.0865	5008	,	,		21457	0.0913		0.0915	False		,,,				2504	0.227				p.P335A		Atlas-SNP	.											ABHD12B_ENST00000337334,right_upper_lobe,carcinoma,-1,2	ABHD12B	53	2	0			c.C1003G						PASS	.	C	ALA/PRO,ALA/PRO	452,3954	216.8+/-235.3	22,408,1773	213	211	212		1003,772	4.9	1	14	dbSNP_126	212	717,7883	175.0+/-225.2	37,643,3620	yes	missense,missense	ABHD12B	NM_001206673.1,NM_181814.1	27,27	59,1051,5393	GG,GC,CC		8.3372,10.2587,8.9882	benign,benign	335/363,258/286	51370852	1169,11837	2203	4300	6503	SO:0001583	missense	145447	exon12			ATCTTTCCTCCTG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.1003C>G	14.37:g.51370852C>G	ENSP00000336693:p.Pro335Ala	Somatic	267	1	0.00374532		WXS	Illumina HiSeq	Phase_I	336	197	0.58631	NM_001206673	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	187	0.08562271062271062	49	0.09959349593495935	18	0.049723756906077346	47	0.08216783216783216	73	0.09630606860158311	C	12.29	1.894362	0.33442	0.102587	0.083372	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.53206	2.25;0.63;2.27	4.94	4.94	0.65067	.	0.426050	0.28589	N	0.014814	T	0.00967	0.0032	L	0.28115	0.83	0.41275	D	0.986877	B;B	0.29085	0.137;0.232	B;B	0.30401	0.115;0.07	T	0.01824	-1.1266	10	0.09843	T	0.71	-19.3759	15.7423	0.77910	0.0:1.0:0.0:0.0	rs34800262	335;258	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	A	258;335;228	ENSP00000343951:P258A;ENSP00000336693:P335A;ENSP00000379101:P228A	ENSP00000336693:P335A	P	+	1	0	ABHD12B	50440602	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.256000	0.58810	2.675000	0.91044	0.655000	0.94253	CCT	C|0.912;G|0.088	0.088	strong		0.443	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			G	51370852	C	G	51370852	3	3	23	1	0	0	0	0	1	0	0	0	77	855	30	4	828	4	ABHD12B	14	51370852	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	143852	51370852	55978688	3351	19807										
FRMD6	122786	hgsc.bcm.edu	37	chr14	52186966	52186966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaccaagccccgggacacGgggccagaagacagctactc	12	15	0	2	rs2277495	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:52186966G>A	ENST00000344768.5	+	11	1414	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	FRMD6_ENST00000395718.2_Silent_p.T398T|FRMD6_ENST00000553556.1_Silent_p.T48T|FRMD6_ENST00000554167.1_Silent_p.T329T|FRMD6_ENST00000356218.4_Silent_p.T398T			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	406					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCCGGGACACGGGGCCAGAAG	0.617													G|||	1149	0.229433	0.1021	0.2795	5008	,	,		17792	0.2649		0.3211	False		,,,				2504	0.2352				p.T406T		Atlas-SNP	.											.	FRMD6	100	.	0			c.G1218A						PASS	.	G	,	550,3856	248.1+/-256.1	45,460,1698	64	61	62		1194,1194	-12	0	14	dbSNP_100	62	2673,5927	428.0+/-355.8	395,1883,2022	no	coding-synonymous,coding-synonymous	FRMD6	NM_001042481.1,NM_152330.3	,	440,2343,3720	AA,AG,GG		31.0814,12.483,24.7809	,	398/615,398/615	52186966	3223,9783	2203	4300	6503	SO:0001819	synonymous_variant	122786	exon11			GGACACGGGGCCA	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1218G>A	14.37:g.52186966G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	112	74	0.660714	NM_001267046	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																			G|0.751;C|0.000;A|0.249	0.249	strong		0.617	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52186966	G	A	52186966	2	1	23	1	0	0	0	0	0	0	0	1	6054	1103	39	1		1	FRMD6	14	52186966	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	816114	52186966	55162574	3352	19808										
PTGDR	5729	hgsc.bcm.edu	37	chr14	52735108	52735108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatggtccacgaggagggCtcgctgtcggtgctggggta	18	9	0	1	rs34968651	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:52735108C>T	ENST00000306051.2	+	1	678	c.576C>T	c.(574-576)ggC>ggT	p.G192G	PTGDR_ENST00000553372.1_Silent_p.G192G	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	192					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACGAGGAGGGCTCGCTGTCGG	0.627													C|||	406	0.0810703	0.0068	0.0519	5008	,	,		17584	0.123		0.0905	False		,,,				2504	0.1493				p.G192G		Atlas-SNP	.											.	PTGDR	58	.	0			c.C576T						PASS	.	C		95,4311	77.3+/-115.6	0,95,2108	98	85	89		576	-1.4	0.9	14	dbSNP_126	89	742,7858	179.9+/-228.9	26,690,3584	no	coding-synonymous	PTGDR	NM_000953.2		26,785,5692	TT,TC,CC		8.6279,2.1562,6.4355		192/360	52735108	837,12169	2203	4300	6503	SO:0001819	synonymous_variant	5729	exon1			GGAGGGCTCGCTG	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.576C>T	14.37:g.52735108C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	104	41	0.394231	NM_000953	G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	CCDS9707.1																																																																																			C|0.932;T|0.068	0.068	strong		0.627	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		T	52735108	C	T	52735108	2	4	23	1	0	0	0	0	0	0	0	1	12741	784	28	2		2	PTGDR	14	52735108	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	548142	52735108	54614432	3353	19809										
TXNDC16	57544	hgsc.bcm.edu	37	chr14	52923820	52923820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacttacagtagcaaaacaTcttcttcagaataaattcca	3	9	3	1	rs61744423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:52923820T>C	ENST00000281741.4	-	17	2062	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	564					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGCAAAACATCTTCTTCAGA	0.289													T|||	45	0.00898562	0.0015	0.0115	5008	,	,		15466	0.0		0.0328	False		,,,				2504	0.002				p.D564G		Atlas-SNP	.											.	TXNDC16	59	.	0			c.A1691G						PASS	.	T	GLY/ASP,GLY/ASP	21,4375	28.1+/-56.4	0,21,2177	79	89	86		1676,1691	5.1	1	14	dbSNP_129	86	206,8358	87.6+/-150.0	0,206,4076	yes	missense,missense	TXNDC16	NM_001160047.1,NM_020784.2	94,94	0,227,6253	CC,CT,TT		2.4054,0.4777,1.7515	possibly-damaging,possibly-damaging	559/821,564/826	52923820	227,12733	2198	4282	6480	SO:0001583	missense	57544	exon17			AAAACATCTTCTT	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1691A>G	14.37:g.52923820T>C	ENSP00000281741:p.Asp564Gly	Somatic	227	1	0.00440529		WXS	Illumina HiSeq	Phase_I	260	149	0.573077	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	34	0.015567765567765568	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	28	0.036939313984168866	T	17.67	3.447756	0.63178	0.004777	0.024054	ENSG00000087301	ENST00000281741	T	0.35048	1.33	5.05	5.05	0.67936	.	0.360200	0.31922	N	0.006853	T	0.22205	0.0535	M	0.65975	2.015	0.42835	D	0.99403	D;D	0.59357	0.984;0.985	P;P	0.62560	0.904;0.882	T	0.38714	-0.9648	10	0.56958	D	0.05	-48.734	12.4466	0.55654	0.0:0.0:0.0:1.0	.	559;564	B7ZME4;Q9P2K2	.;TXD16_HUMAN	G	564	ENSP00000281741:D564G	ENSP00000281741:D564G	D	-	2	0	TXNDC16	51993570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.081000	0.57627	2.030000	0.59900	0.455000	0.32223	GAT	T|0.983;C|0.017	0.017	strong		0.289	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		C	52923820	T	C	52923820	3	2	23	1	0	0	0	0	1	0	0	0	16792	1435	50	2	806	2	TXNDC16	14	52923820	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	188712	52923820	54425720	3354	19810										
TXNDC16	57544	hgsc.bcm.edu	37	chr14	52937255	52937255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gataaattttaggagatcttCggttcctaacattccagcat	7	8	1	1	rs7155490	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:52937255C>T	ENST00000281741.4	-	15	1827	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	486	Thioredoxin.		E -> K (in dbSNP:rs7155490). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:15489334}.		cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGGAGATCTTCGGTTCCTAAC	0.348													C|||	1105	0.220647	0.1989	0.2363	5008	,	,		16669	0.3125		0.168	False		,,,				2504	0.1984				p.E486K		Atlas-SNP	.											.	TXNDC16	59	.	0			c.G1456A						PASS	.	C	LYS/GLU,LYS/GLU	918,3488	349.8+/-310.5	93,732,1378	77	78	77		1441,1456	2.2	1	14	dbSNP_116	77	1415,7185	272.6+/-290.2	117,1181,3002	yes	missense,missense	TXNDC16	NM_001160047.1,NM_020784.2	56,56	210,1913,4380	TT,TC,CC		16.4535,20.8352,17.9379	benign,benign	481/821,486/826	52937255	2333,10673	2203	4300	6503	SO:0001583	missense	57544	exon15			GATCTTCGGTTCC	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1456G>A	14.37:g.52937255C>T	ENSP00000281741:p.Glu486Lys	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	197	69	0.350254	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	490	0.22435897435897437	108	0.21951219512195122	81	0.22375690607734808	169	0.29545454545454547	132	0.1741424802110818	C	4.653	0.121429	0.08881	0.208352	0.164535	ENSG00000087301	ENST00000281741	T	0.44881	0.91	5.03	2.16	0.27623	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.215706	0.47093	N	0.000247	T	0.00012	0.0000	L	0.31120	0.905	0.37658	P	0.07732899999999998	B;B	0.29766	0.256;0.165	B;B	0.25291	0.059;0.024	T	0.41070	-0.9529	9	0.16420	T	0.52	-23.5327	10.616	0.45451	0.0:0.749:0.0:0.251	rs7155490;rs17350947;rs52793553;rs60140637;rs7155490	481;486	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	486	ENSP00000281741:E486K	ENSP00000281741:E486K	E	-	1	0	TXNDC16	52007005	0.775000	0.28604	0.964000	0.40570	0.063000	0.16089	1.241000	0.32743	-0.007000	0.14345	-1.119000	0.02030	GAA	C|0.787;N|0.000	.	strong		0.348	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		T	52937255	C	T	52937255	3	4	23	1	0	0	0	0	1	0	0	0	16792	893	31	1	1049	1	TXNDC16	14	52937255	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13435	52937255	54412285	3355	19811										
TXNDC16	57544	hgsc.bcm.edu	37	chr14	52981664	52981664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtagtcccatacacaaaaGcggcttccatgactgctctg	8	12	1	1	rs117463339	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:52981664G>C	ENST00000281741.4	-	8	910	c.539C>G	c.(538-540)gCt>gGt	p.A180G	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	180				A -> G (in Ref. 1; BAA92582). {ECO:0000305}.	cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATACACAAAAGCGGCTTCCAT	0.363													G|||	73	0.0145767	0.0061	0.0101	5008	,	,		18339	0.004		0.0258	False		,,,				2504	0.0286				p.A180G		Atlas-SNP	.											.	TXNDC16	59	.	0			c.C539G						PASS	.	G	GLY/ALA,GLY/ALA	36,4370	40.8+/-73.8	0,36,2167	130	133	132		524,539	5.7	1	14	dbSNP_132	132	264,8334	102.1+/-163.3	2,260,4037	yes	missense,missense	TXNDC16	NM_001160047.1,NM_020784.2	60,60	2,296,6204	CC,CG,GG		3.0705,0.8171,2.307	probably-damaging,probably-damaging	175/821,180/826	52981664	300,12704	2203	4299	6502	SO:0001583	missense	57544	exon8			ACAAAAGCGGCTT	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.539C>G	14.37:g.52981664G>C	ENSP00000281741:p.Ala180Gly	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	100	37	0.37	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	33	0.01510989010989011	3	0.006097560975609756	7	0.019337016574585635	0	0.0	23	0.030343007915567283	G	25.2	4.612167	0.87258	0.008171	0.030705	ENSG00000087301	ENST00000281741	T	0.36157	1.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	M	0.72894	2.215	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.54510	-0.8283	10	0.87932	D	0	-44.0895	17.2216	0.86959	0.0:0.0:1.0:0.0	.	175;180	B7ZME4;Q9P2K2	.;TXD16_HUMAN	G	180	ENSP00000281741:A180G	ENSP00000281741:A180G	A	-	2	0	TXNDC16	52051414	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.007000	0.63984	2.681000	0.91329	0.563000	0.77884	GCT	G|0.979;C|0.021	0.021	strong		0.363	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		C	52981664	G	C	52981664	3	2	23	1	0	0	0	0	1	0	0	0	16792	971	34	4	1994	4	TXNDC16	14	52981664	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	44409	52981664	54367876	3356	19812										
CGRRF1	10668	hgsc.bcm.edu	37	chr14	55005083	55005083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaaagagcaagataaagaCaaaccgaagactctttgaag	8	7	1	5	rs202061859		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:55005083C>T	ENST00000216420.7	+	6	1113	c.981C>T	c.(979-981)gaC>gaT	p.D327D		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	327					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAGATAAAGACAAACCGAAGA	0.383																																					p.D327D		Atlas-SNP	.											.	CGRRF1	30	.	0			c.C981T						PASS	.	C		0,4406		0,0,2203	71	67	69		981	1.5	0.2	14		69	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CGRRF1	NM_006568.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		327/333	55005083	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10668	exon6			TAAAGACAAACCG	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.981C>T	14.37:g.55005083C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	32	0.326531	NM_006568	Q96BX2	Silent	SNP	ENST00000216420.7	37	CCDS9719.1																																																																																			C|0.999;T|0.001	0.001	weak		0.383	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		T	55005083	C	T	55005083	2	4	23	1	0	0	0	0	0	0	0	1	3306	477	17	2		2	CGRRF1	14	55005083	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2023419	55005083	52344457	3357	19813										
SAMD4A	23034	hgsc.bcm.edu	37	chr14	55226987	55226987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaccacccccgaggctcgcCgccgggagccccaggccccg	13	22	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:55226987C>T	ENST00000554335.1	+	7	1948	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	SAMD4A_ENST00000555192.1_Missense_Mutation_p.R20C|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R341C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R429C|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R428C			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	429					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGAGGCTCGCCGCCGGGAGCC	0.716																																					p.R429C		Atlas-SNP	.											.	SAMD4A	68	.	0			c.C1285T						PASS	.																																			SO:0001583	missense	23034	exon6			GCTCGCCGCCGGG	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1285C>T	14.37:g.55226987C>T	ENSP00000452535:p.Arg429Cys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	46	32	0.695652	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391816	0.42410	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.07	3.07	0.35406	.	0.889887	0.09934	N	0.736892	T	0.23451	0.0567	N	0.14661	0.345	0.24451	N	0.994482	B;D;P	0.53151	0.012;0.958;0.474	B;P;B	0.50617	0.002;0.646;0.093	T	0.09271	-1.0682	9	0.51188	T	0.08	-15.041	3.4091	0.07352	0.288:0.5045:0.1175:0.09	.	20;341;429	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	C	429;429;341;340;428;20	.	ENSP00000251091:R58C	R	+	1	0	SAMD4A	54296737	0.921000	0.31238	0.318000	0.25279	0.343000	0.28985	1.821000	0.39041	1.331000	0.45412	0.609000	0.83330	CGC	.	.	none		0.716	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55226987	C	T	55226987	3	4	23	1	0	0	0	0	1	0	0	0	13821	652	23	1	1304	1	SAMD4A	14	55226987	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	221904	55226987	52122553	3358	19814										
WDHD1	11169	hgsc.bcm.edu	37	chr14	55448409	55448409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgaatccacgtaacaagGggtacctaaacaccaacaga	7	11	1	2	rs61741224	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:55448409G>C	ENST00000360586.3	-	16	1977	c.1912C>G	c.(1912-1914)Cct>Gct	p.P638A	WDHD1_ENST00000359167.4_Missense_Mutation_p.P156A|WDHD1_ENST00000420358.2_Missense_Mutation_p.P515A|WDHD1_ENST00000421192.1_Missense_Mutation_p.P515A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	638					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ACGTAACAAGGGGTACCTAAA	0.368													G|||	144	0.028754	0.0023	0.036	5008	,	,		15265	0.0		0.1113	False		,,,				2504	0.0041				p.P638A		Atlas-SNP	.											.	WDHD1	82	.	0			c.C1912G						PASS	.	G	ALA/PRO,ALA/PRO	81,4325	69.8+/-107.6	3,75,2125	84	73	77		1543,1912	5.7	1	14	dbSNP_129	77	837,7763	192.7+/-238.6	36,765,3499	yes	missense,missense	WDHD1	NM_001008396.2,NM_007086.3	27,27	39,840,5624	CC,CG,GG		9.7326,1.8384,7.0583	probably-damaging,probably-damaging	515/1007,638/1130	55448409	918,12088	2203	4300	6503	SO:0001583	missense	11169	exon16			AACAAGGGGTACC	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1912C>G	14.37:g.55448409G>C	ENSP00000353793:p.Pro638Ala	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	137	80	0.583942	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	101	0.04624542124542125	0	0.0	15	0.04143646408839779	0	0.0	86	0.11345646437994723	G	24.5	4.538803	0.85917	0.018384	0.097326	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.73363	-0.34;0.28;-0.74	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	M	0.89287	3.02	0.09310	P	0.99999999845594	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.63093	-0.6714	9	0.35671	T	0.21	-3.4145	19.9281	0.97110	0.0:0.0:1.0:0.0	rs61741224	156;638	F8W7P7;O75717	.;WDHD1_HUMAN	A	638;156;515	ENSP00000353793:P638A;ENSP00000352085:P156A;ENSP00000391049:P515A	ENSP00000352085:P156A	P	-	1	0	WDHD1	54518159	1.000000	0.71417	0.993000	0.49108	0.815000	0.46073	7.687000	0.84139	2.708000	0.92522	0.585000	0.79938	CCT	G|0.928;C|0.072	0.072	strong		0.368	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		C	55448409	G	C	55448409	3	2	23	1	0	0	0	0	1	0	0	0	17268	1232	43	4	1521	4	WDHD1	14	55448409	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	221422	55448409	51901131	3359	19815										
TBPL2	387332	hgsc.bcm.edu	37	chr14	55907172	55907172	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcctcctgctccatggacCgtaatcccactgttgggggt	10	14	1	0	rs8019270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:55907172C>G	ENST00000247219.5	-	1	162	c.92G>C	c.(91-93)cGg>cCg	p.R31P		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCCATGGACCGTAATCCCAC	0.662													G|||	3429	0.684704	0.8079	0.7291	5008	,	,		14117	0.6349		0.5984	False		,,,				2504	0.6268				p.R31P		Atlas-SNP	.											TBPL2,NS,carcinoma,0,2	TBPL2	27	2	0			c.G92C						PASS	.	G	PRO/ARG	3369,971		1333,703,134	38	40	40		92	-4	0	14	dbSNP_116	40	4943,3589		1495,1953,818	yes	missense	TBPL2	NM_199047.2	103	2828,2656,952	GG,GC,CC		42.0652,22.3733,35.4257	benign	31/376	55907172	8312,4560	2170	4266	6436	SO:0001583	missense	387332	exon1			ATGGACCGTAATC	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.92G>C	14.37:g.55907172C>G	ENSP00000247219:p.Arg31Pro	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	134	54	0.402985	NM_199047		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	1477	0.6762820512820513	387	0.7865853658536586	272	0.7513812154696132	366	0.6398601398601399	452	0.5963060686015831	G	5.876	0.345715	0.11126	0.776267	0.579348	ENSG00000182521	ENST00000247219	T	0.45276	0.9	3.12	-3.98	0.04082	.	1.197560	0.06202	N	0.683464	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	9	0.38643	T	0.18	8.6782	6.0453	0.19755	0.2829:0.2463:0.4707:0.0	rs8019270;rs52821151;rs8019270	31	Q6SJ96	TBPL2_HUMAN	P	31	ENSP00000247219:R31P	ENSP00000247219:R31P	R	-	2	0	TBPL2	54976925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.351000	0.02197	-1.567000	0.00876	CGG	C|0.350;G|0.650	0.650	strong		0.662	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		G	55907172	C	G	55907172	3	3	23	1	0	0	0	0	1	0	0	0	15643	652	23	4	1063	4	TBPL2	14	55907172	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	458763	55907172	51442368	3360	19816										
C14orf37	145407	hgsc.bcm.edu	37	chr14	58605734	58605734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaggggacacctgactcagTaggtgtggaaacaccagggc	15	9	1	2	rs61741497	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:58605734T>C	ENST00000267485.7	-	2	537	c.343A>G	c.(343-345)Act>Gct	p.T115A	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	115						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						CCTGACTCAGTAGGTGTGGAA	0.478													T|||	8	0.00159744	0.0	0.0029	5008	,	,		21817	0.0		0.006	False		,,,				2504	0.0				p.T115A		Atlas-SNP	.											.	C14orf37	87	.	0			c.A343G						PASS	.	T	ALA/THR	8,4398	15.5+/-35.6	0,8,2195	85	81	82		343	2.1	0.1	14	dbSNP_129	82	62,8538	37.4+/-92.8	3,56,4241	yes	missense	C14orf37	NM_001001872.2	58	3,64,6436	CC,CT,TT		0.7209,0.1816,0.5382	possibly-damaging	115/775	58605734	70,12936	2203	4300	6503	SO:0001583	missense	145407	exon2			ACTCAGTAGGTGT		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.343A>G	14.37:g.58605734T>C	ENSP00000267485:p.Thr115Ala	Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	212	140	0.660377	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	T	9.312	1.055831	0.19907	0.001816	0.007209	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.21734	1.99	5.82	2.06	0.26882	.	0.429079	0.24436	N	0.038557	T	0.13415	0.0325	M	0.62723	1.935	0.19300	N	0.99997	B;P;B;B	0.40970	0.208;0.734;0.208;0.208	B;B;B;B	0.39503	0.084;0.301;0.084;0.084	T	0.09729	-1.0661	10	0.37606	T	0.19	-2.845	4.9334	0.13928	0.0:0.2244:0.1493:0.6264	.	153;115;115;115	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	A	115;153	ENSP00000267485:T115A	ENSP00000267485:T115A	T	-	1	0	C14orf37	57675487	0.014000	0.17966	0.120000	0.21714	0.017000	0.09413	-0.048000	0.11944	0.106000	0.17784	0.533000	0.62120	ACT	T|0.995;C|0.005	0.005	strong		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		C	58605734	T	C	58605734	3	2	23	1	0	0	0	0	1	0	0	0	1771	1638	57	2	2009	2	C14orf37	14	58605734	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2698562	58605734	48743806	3361	19817										
ARID4A	5926	hgsc.bcm.edu	37	chr14	58768333	58768333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctacctgacagtgggaacCgatgtcagtgccaagtaccg	12	12	1	1	rs45562837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:58768333C>T	ENST00000355431.3	+	3	415	c.42C>T	c.(40-42)acC>acT	p.T14T	ARID4A_ENST00000395168.3_Silent_p.T14T|ARID4A_ENST00000348476.3_Silent_p.T14T|ARID4A_ENST00000431317.2_Silent_p.T14T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	14					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGGGAACCGATGTCAGTG	0.453													C|||	230	0.0459265	0.0045	0.0461	5008	,	,		17442	0.005		0.0825	False		,,,				2504	0.1063				p.T14T		Atlas-SNP	.											ARID4A_ENST00000355431,colon,carcinoma,0,2	ARID4A	222	2	0			c.C42T						PASS	.	C	,,	83,4323	69.8+/-107.6	0,83,2120	82	78	80		42,42,42	-5	1	14	dbSNP_127	80	641,7959	164.6+/-216.9	19,603,3678	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4A	NM_002892.3,NM_023000.2,NM_023001.2	,,	19,686,5798	TT,TC,CC		7.4535,1.8838,5.5667	,,	14/1258,14/1204,14/1189	58768333	724,12282	2203	4300	6503	SO:0001819	synonymous_variant	5926	exon3			GGGAACCGATGTC	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.42C>T	14.37:g.58768333C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	169	63	0.372781	NM_002892	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																			C|0.947;T|0.053	0.053	strong		0.453	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		T	58768333	C	T	58768333	2	4	23	1	0	0	0	0	0	0	0	1	919	639	23	1		1	ARID4A	14	58768333	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	162599	58768333	48581207	3362	19818										
ARID4A	5926	hgsc.bcm.edu	37	chr14	58831995	58831995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacctgtagtataattgtacAagagagagagagcagagaga	12	4	0	5	rs377087834		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:58831995A>G	ENST00000355431.3	+	20	3561	c.3188A>G	c.(3187-3189)cAa>cGa	p.Q1063R	ARID4A_ENST00000395168.3_Missense_Mutation_p.Q1063R|ARID4A_ENST00000348476.3_Missense_Mutation_p.Q1063R|ARID4A_ENST00000431317.2_Missense_Mutation_p.Q1063R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1063					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAATTGTACAAGAGAGAGAG	0.383																																					p.Q1063R		Atlas-SNP	.											.	ARID4A	222	.	0			c.A3188G						PASS	.	A	ARG/GLN,ARG/GLN,ARG/GLN	1,4395		0,1,2197	59	61	60		3188,3188,3188	4.2	0.6	14		60	2,8576		0,2,4287	no	missense,missense,missense	ARID4A	NM_002892.3,NM_023000.2,NM_023001.2	43,43,43	0,3,6484	GG,GA,AA		0.0233,0.0227,0.0231	benign,benign,benign	1063/1258,1063/1204,1063/1189	58831995	3,12971	2198	4289	6487	SO:0001583	missense	5926	exon20			TTGTACAAGAGAG	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3188A>G	14.37:g.58831995A>G	ENSP00000347602:p.Gln1063Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	99	42	0.424242	NM_002892	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	6.768	0.510652	0.12883	2.27E-4	2.33E-4	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.17370	2.43;2.43;2.46;2.43;2.28	5.46	4.25	0.50352	.	0.533378	0.21403	N	0.075117	T	0.12817	0.0311	L	0.44542	1.39	0.30980	N	0.722581	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.002;0.004	T	0.08973	-1.0696	10	0.17832	T	0.49	-11.3967	7.5328	0.27693	0.6734:0.2537:0.0729:0.0	.	1063;1063;1063	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	R	1063;1063;1063;1063;741	ENSP00000347602:Q1063R;ENSP00000344556:Q1063R;ENSP00000378597:Q1063R;ENSP00000397368:Q1063R;ENSP00000416053:Q741R	ENSP00000344556:Q1063R	Q	+	2	0	ARID4A	57901748	1.000000	0.71417	0.605000	0.28930	0.958000	0.62258	3.193000	0.50997	2.082000	0.62665	0.455000	0.32223	CAA	.	.	weak		0.383	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58831995	A	G	58831995	3	3	23	1	0	0	0	0	1	0	0	0	919	130	5	2	3262	2	ARID4A	14	58831995	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	63662	58831995	48517545	3363	19819										
DACT1	51339	hgsc.bcm.edu	37	chr14	59113537	59113537	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactcggccgagtgcgagtcCctgttccactccaccgtggt	11	15	0	0	rs61755641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:59113537C>G	ENST00000335867.4	+	4	2220	c.2196C>G	c.(2194-2196)tcC>tcG	p.S732S	DACT1_ENST00000556859.1_Silent_p.S451S|DACT1_ENST00000395153.3_Silent_p.S695S|DACT1_ENST00000541264.2_Silent_p.S451S			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	732					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGTGCGAGTCCCTGTTCCACT	0.642													C|||	168	0.0335463	0.0303	0.0375	5008	,	,		11194	0.003		0.0616	False		,,,				2504	0.0378				p.S732S		Atlas-SNP	.											.	DACT1	119	.	0			c.C2196G						PASS	.	C	,	143,4263	99.4+/-138.0	2,139,2062	82	78	80		2085,2196	-1.3	1	14	dbSNP_129	80	473,8127	137.8+/-194.7	10,453,3837	no	coding-synonymous,coding-synonymous	DACT1	NM_001079520.1,NM_016651.5	,	12,592,5899	GG,GC,CC		5.5,3.2456,4.7363	,	695/800,732/837	59113537	616,12390	2203	4300	6503	SO:0001819	synonymous_variant	51339	exon4			CGAGTCCCTGTTC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2196C>G	14.37:g.59113537C>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	63	22	0.349206	NM_016651	A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																			C|0.956;G|0.044	0.044	strong		0.642	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		G	59113537	C	G	59113537	2	3	23	1	0	0	0	0	0	0	0	1	4222	610	22	4		4	DACT1	14	59113537	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	281542	59113537	48236003	3364	19820										
C14orf135	64430	hgsc.bcm.edu	37	chr14	60581863	60581863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggatttacccagtggtccGgaaaaacatttttcatggaa	9	7	1	0	rs219314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:60581863G>A	ENST00000406854.1	+	4	1595	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	PCNXL4_ENST00000317623.4_Silent_p.P113P|PCNXL4_ENST00000406949.1_Silent_p.P113P|PCNXL4_ENST00000404681.2_Silent_p.P347P			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	347						integral component of membrane (GO:0016021)											CCAGTGGTCCGGAAAAACATT	0.383													A|||	3467	0.692292	0.4244	0.8775	5008	,	,		16929	0.7232		0.9016	False		,,,				2504	0.6759				p.P113P		Atlas-SNP	.											.	.	.	.	0			c.G339A						PASS	.	A		1858,1810		465,928,441	138	121	127		339	-10.8	0	14	dbSNP_79	127	7352,820		3309,734,43	no	coding-synonymous	C14orf135	NM_022495.5		3774,1662,484	AA,AG,GG		10.0343,49.3457,22.2128		113/939	60581863	9210,2630	1834	4086	5920	SO:0001819	synonymous_variant	64430	exon3			TGGTCCGGAAAAA	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1041G>A	14.37:g.60581863G>A		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	248	247	0.995968	NM_022495	A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37																																																																																				G|0.258;A|0.742	0.742	strong		0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		A	60581863	G	A	60581863	2	1	23	1	0	0	0	0	0	0	0	1	1745	1103	39	1		1	C14orf135	14	60581863	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1468326	60581863	46767677	3365	19821										
SIX4	51804	hgsc.bcm.edu	37	chr14	61187111	61187111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtgggtgaggagataaatCctcatgtcccttgctggatt	13	7	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:61187111C>T	ENST00000216513.4	-	2	975	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	306					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D306N(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAGATAAATCCTCATGTCCC	0.473																																					p.D306N		Atlas-SNP	.											SIX4,NS,carcinoma,0,1	SIX4	69	1	1	Substitution - Missense(1)	breast(1)	c.G916A						scavenged	.						128	122	124					14																	61187111		2203	4300	6503	SO:0001583	missense	51804	exon2			ATAAATCCTCATG	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.916G>A	14.37:g.61187111C>T	ENSP00000216513:p.Asp306Asn	Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	308	4	0.012987	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018991	0.75275	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.91686	-2.89	5.62	5.62	0.85841	.	0.202710	0.41823	D	0.000814	D	0.93187	0.7830	L	0.29908	0.895	0.47245	D	0.999363	D;D	0.67145	0.974;0.996	P;P	0.62740	0.669;0.906	D	0.93291	0.6668	10	0.51188	T	0.08	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	298;306	G3V2N2;Q9UIU6	.;SIX4_HUMAN	N	306;298	ENSP00000216513:D306N	ENSP00000216513:D306N	D	-	1	0	SIX4	60256864	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.641000	0.67881	2.660000	0.90430	0.655000	0.94253	GAT	.	.	none		0.473	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			T	61187111	C	T	61187111	3	4	23	1	0	0	0	0	1	0	0	0	14349	855	30	2	1437	2	SIX4	14	61187111	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	605248	61187111	46162429	3366	19822										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64496763	64496763	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatagcggttgaggaaaaaTtgcagaaactgcaggtacta	11	5	0	2	rs11850509	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64496763T>C	ENST00000344113.4	+	44	7077	c.6865T>C	c.(6865-6867)Ttg>Ctg	p.L2289L	SYNE2_ENST00000358025.3_Silent_p.L2289L|SYNE2_ENST00000554584.1_Silent_p.L2289L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2289					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAGGAAAAATTGCAGAAACT	0.378													T|||	441	0.0880591	0.1891	0.0893	5008	,	,		19034	0.0575		0.0298	False		,,,				2504	0.0419				p.L2289L		Atlas-SNP	.											.	SYNE2	577	.	0			c.T6865C						PASS	.	T	,	516,3146		36,444,1351	71	67	68		6865,6865	-9.7	0.9	14	dbSNP_120	68	356,7812		14,328,3742	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	50,772,5093	CC,CT,TT		4.3585,14.0907,7.3711	,	2289/6886,2289/6908	64496763	872,10958	1831	4084	5915	SO:0001819	synonymous_variant	23224	exon44			GAAAAATTGCAGA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6865T>C	14.37:g.64496763T>C		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	93	35	0.376344	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			T|0.938;C|0.062	0.062	strong		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64496763	T	C	64496763	2	2	23	1	0	0	0	0	0	0	0	1	15443	1490	52	2		2	SYNE2	14	64496763	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3309652	64496763	42852777	3367	19823										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64518321	64518321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacaaaattaaaaaattcAtagcatccatagaaaaagag	6	5	1	2	rs11628107	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64518321A>G	ENST00000344113.4	+	48	7902	c.7690A>G	c.(7690-7692)Ata>Gta	p.I2564V	SYNE2_ENST00000358025.3_Missense_Mutation_p.I2564V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I2597V|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2564			I -> V (in dbSNP:rs11628107).		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAAAATTCATAGCATCCAT	0.308													A|||	146	0.0291534	0.0053	0.0677	5008	,	,		18960	0.0556		0.0249	False		,,,				2504	0.0112				p.I2564V		Atlas-SNP	.											.	SYNE2	577	.	0			c.A7690G						PASS	.	A	VAL/ILE,VAL/ILE	40,3546		0,40,1753	43	40	41		7690,7690	4	0.4	14	dbSNP_120	41	228,7918		7,214,3852	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	29,29	7,254,5605	GG,GA,AA		2.7989,1.1154,2.2844	benign,benign	2564/6886,2564/6908	64518321	268,11464	1793	4073	5866	SO:0001583	missense	23224	exon48			AAATTCATAGCAT	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7690A>G	14.37:g.64518321A>G	ENSP00000341781:p.Ile2564Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	146	52	0.356164	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	73	0.033424908424908424	1	0.0020325203252032522	23	0.06353591160220995	31	0.05419580419580419	18	0.023746701846965697	A	0.214	-1.034389	0.02029	0.011154	0.027989	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.54071	1.41;1.41;0.59	5.9	4.0	0.46444	.	0.331247	0.22197	N	0.063283	T	0.02156	0.0067	N	0.03608	-0.345	0.44036	D	0.996763	B;B	0.15141	0.007;0.012	B;B	0.09377	0.002;0.004	T	0.04825	-1.0924	10	0.10902	T	0.67	.	1.7505	0.02971	0.2923:0.4147:0.1317:0.1613	rs11628107;rs52797744;rs11628107	2564;2564	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	2564;2564;2597;2597	ENSP00000350719:I2564V;ENSP00000341781:I2564V;ENSP00000452570:I2597V	ENSP00000261678:I2597V	I	+	1	0	SYNE2	63588074	0.009000	0.17119	0.431000	0.26735	0.152000	0.21847	0.090000	0.15025	0.747000	0.32809	-0.219000	0.12488	ATA	A|0.970;G|0.030	0.030	strong		0.308	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64518321	A	G	64518321	3	3	23	1	0	0	0	0	1	0	0	0	15443	217	8	2	7876	2	SYNE2	14	64518321	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21558	64518321	42831219	3368	19824										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64519709	64519709	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacaaacccaagtatttgaAaaagaaaaggaacttgaaga	7	5	0	4	rs34843668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64519709A>T	ENST00000344113.4	+	48	9290	c.9078A>T	c.(9076-9078)gaA>gaT	p.E3026D	SYNE2_ENST00000358025.3_Missense_Mutation_p.E3026D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3059D|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3026			E -> D (in dbSNP:rs34843668).		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTATTTGAAAAAGAAAAGG	0.313													A|||	145	0.0289537	0.0053	0.0677	5008	,	,		19057	0.0546		0.0249	False		,,,				2504	0.0112				p.E3026D		Atlas-SNP	.											SYNE2,NS,carcinoma,+2,1	SYNE2	577	1	0			c.A9078T						scavenged	.	A	ASP/GLU,ASP/GLU	41,3545		0,41,1752	49	49	49		9078,9078	-0.5	0.4	14	dbSNP_126	49	209,7913		5,199,3857	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	45,45	5,240,5609	TT,TA,AA		2.5733,1.1433,2.1353	benign,benign	3026/6886,3026/6908	64519709	250,11458	1793	4061	5854	SO:0001583	missense	23224	exon48			ATTTGAAAAAGAA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9078A>T	14.37:g.64519709A>T	ENSP00000341781:p.Glu3026Asp	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	147	57	0.387755	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	73	0.033424908424908424	1	0.0020325203252032522	23	0.06353591160220995	31	0.05419580419580419	18	0.023746701846965697	A	11.30	1.599048	0.28534	0.011433	0.025733	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57595	0.77;0.77;0.39	5.69	-0.542	0.11854	.	0.589219	0.16197	N	0.225126	T	0.03959	0.0111	N	0.24115	0.695	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.34242	0.086;0.178	T	0.01341	-1.1380	10	0.37606	T	0.19	.	9.1473	0.36942	0.6336:0.0:0.3664:0.0	rs34843668	3026;3026	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	D	3026;3026;3059;3059	ENSP00000350719:E3026D;ENSP00000341781:E3026D;ENSP00000452570:E3059D	ENSP00000261678:E3059D	E	+	3	2	SYNE2	63589462	0.987000	0.35691	0.372000	0.25991	0.450000	0.32258	0.955000	0.29188	-0.097000	0.12307	0.379000	0.24179	GAA	A|0.970;T|0.030	0.030	strong		0.313	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64519709	A	T	64519709	3	4	23	1	0	0	0	0	1	0	0	0	15443	11	1	5	9264	5	SYNE2	14	64519709	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1388	64519709	42829831	3369	19825										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64612845	64612845	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgaaaataaaatacagatCttgaacaactggctggaagc	9	6	1	3	rs11629287	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64612845C>T	ENST00000344113.4	+	84	15755	c.15543C>T	c.(15541-15543)atC>atT	p.I5181I	SYNE2_ENST00000358025.3_Silent_p.I5181I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.I5098I|SYNE2_ENST00000357395.3_Silent_p.I1566I|SYNE2_ENST00000394768.2_Silent_p.I1566I|SYNE2_ENST00000555002.1_Silent_p.I1815I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5181					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.I5181I(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATACAGATCTTGAACAACT	0.353													T|||	2213	0.441893	0.5726	0.3977	5008	,	,		17561	0.504		0.3469	False		,,,				2504	0.3303				p.I5181I		Atlas-SNP	.											SYNE2,NS,carcinoma,0,1	SYNE2	577	1	1	Substitution - coding silent(1)	prostate(1)	c.C15543T						PASS	.	T	,	2373,2033	561.1+/-380.6	642,1089,472	59	65	63		15543,15543	-1.2	0.8	14	dbSNP_120	63	2918,5682	668.0+/-402.5	502,1914,1884	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	1144,3003,2356	TT,TC,CC		33.9302,46.1416,40.6812	,	5181/6886,5181/6908	64612845	5291,7715	2203	4300	6503	SO:0001819	synonymous_variant	23224	exon84			ACAGATCTTGAAC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15543C>T	14.37:g.64612845C>T		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	308	91	0.295455	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			C|0.567;T|0.433	0.433	strong		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64612845	C	T	64612845	2	4	23	1	0	0	0	0	0	0	0	1	15443	903	32	2		2	SYNE2	14	64612845	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	93136	64612845	42736695	3370	19826										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64612858	64612858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacagatcttgaacaactggCtggaagcacaagaagagaga	11	7	1	5	rs10151658	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64612858C>A	ENST00000344113.4	+	84	15768	c.15556C>A	c.(15556-15558)Ctg>Atg	p.L5186M	SYNE2_ENST00000358025.3_Missense_Mutation_p.L5186M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5103M|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1571M|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1571M|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1820M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5186			L -> M (in dbSNP:rs10151658). {ECO:0000269|PubMed:12118075, ECO:0000269|PubMed:14702039}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L5186M(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACAACTGGCTGGAAGCACA	0.383													A|||	3164	0.631789	0.9168	0.513	5008	,	,		17217	0.6429		0.4553	False		,,,				2504	0.501				p.L5186M		Atlas-SNP	.											SYNE2,NS,carcinoma,0,1	SYNE2	577	1	1	Substitution - Missense(1)	prostate(1)	c.C15556A						scavenged	.	A	MET/LEU,MET/LEU	3745,661	281.4+/-275.9	1603,539,61	68	73	71		15556,15556	-2.1	1	14	dbSNP_119	71	3771,4829	614.9+/-396.3	832,2107,1361	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	15,15	2435,2646,1422	AA,AC,CC		43.8488,15.0023,42.2113	benign,benign	5186/6886,5186/6908	64612858	7516,5490	2203	4300	6503	SO:0001583	missense	23224	exon84			AACTGGCTGGAAG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15556C>A	14.37:g.64612858C>A	ENSP00000341781:p.Leu5186Met	Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	324	98	0.302469	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	1340	0.6135531135531136	448	0.9105691056910569	184	0.5082872928176796	368	0.6433566433566433	340	0.44854881266490765	A	2.298	-0.360858	0.05103	0.849977	0.438488	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;3.78;0.71	5.63	-2.1	0.07210	.	0.647372	0.14331	N	0.326332	T	0.00012	0.0000	N	0.05510	-0.035	0.09310	P	0.9999999999999748	B;B;B;B	0.18310	0.002;0.027;0.002;0.006	B;B;B;B	0.17098	0.01;0.017;0.01;0.012	T	0.27020	-1.0086	9	0.15952	T	0.53	.	12.0809	0.53669	0.1859:0.6107:0.0:0.2034	rs10151658;rs17179138;rs58728365;rs10151658	1571;5103;5186;5186	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	5186;1571;5186;5103;5109;1820;1571	ENSP00000350719:L5186M;ENSP00000349969:L1571M;ENSP00000341781:L5186M;ENSP00000452570:L5103M;ENSP00000450831:L1820M;ENSP00000378249:L1571M	ENSP00000261678:L5109M	L	+	1	2	SYNE2	63682611	0.060000	0.20803	0.953000	0.39169	0.324000	0.28378	-0.595000	0.05727	-1.072000	0.03141	-1.140000	0.01884	CTG	C|0.386;A|0.614	0.614	strong		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64612858	C	A	64612858	3	1	23	1	0	0	0	0	1	0	0	0	15443	796	28	4	15886	4	SYNE2	14	64612858	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13	64612858	42736682	3371	19827										
ESR2	2100	hgsc.bcm.edu	37	chr14	64724051	64724051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacagctctccaagagccgCacttggtcgaacaggctgag	11	13	1	2	rs1256049	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64724051C>T	ENST00000341099.4	-	6	1401	c.984G>A	c.(982-984)gtG>gtA	p.V328V	ESR2_ENST00000353772.3_Silent_p.V328V|ESR2_ENST00000542956.1_Silent_p.V328V|ESR2_ENST00000557772.1_Silent_p.V328V|ESR2_ENST00000358599.5_Silent_p.V328V|ESR2_ENST00000555278.1_Silent_p.V328V|ESR2_ENST00000554572.1_Silent_p.V328V|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000553796.1_Silent_p.V328V|ESR2_ENST00000357782.2_Silent_p.V328V|ESR2_ENST00000267525.6_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	328	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V328V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCAAGAGCCGCACTTGGTCGA	0.572													C|||	649	0.129593	0.1029	0.0346	5008	,	,		15483	0.4028		0.0358	False		,,,				2504	0.0481				p.V328V		Atlas-SNP	.											ESR2,NS,carcinoma,0,1	ESR2	82	1	1	Substitution - coding silent(1)	stomach(1)	c.G984A	GRCh37	CM010232	ESR2	M	rs1256049	PASS	.	C	,,,,	396,4010	198.7+/-222.5	14,368,1821	105	106	105		984,984,984,984,984	1.7	1	14	dbSNP_87	105	297,8303	109.0+/-169.6	5,287,4008	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	,,,,	19,655,5829	TT,TC,CC		3.4535,8.9877,5.3283	,,,,	328/496,328/496,328/482,328/473,328/531	64724051	693,12313	2203	4300	6503	SO:0001819	synonymous_variant	2100	exon5			GAGCCGCACTTGG	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.984G>A	14.37:g.64724051C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	168	57	0.339286	NM_001214902	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	CCDS9762.1																																																																																			C|0.909;T|0.091	0.091	strong		0.572	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64724051	C	T	64724051	2	4	23	1	0	0	0	0	0	0	0	1	5257	697	25	2		2	ESR2	14	64724051	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111193	64724051	42625489	3372	19828										
ZBTB1	22890	hgsc.bcm.edu	37	chr14	64988279	64988279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctaaacaaccaaagagaAtggggttttctctgtgactg	10	8	1	2	rs28626711	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64988279A>G	ENST00000554015.1	+	4	488	c.57A>G	c.(55-57)gaA>gaG	p.E19E	ZBTB1_ENST00000358738.3_Silent_p.E19E|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Silent_p.E19E			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	19					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACCAAAGAGAATGGGGTTTTC	0.393													A|||	812	0.162141	0.0401	0.1254	5008	,	,		19165	0.2083		0.2326	False		,,,				2504	0.2331				p.E19E		Atlas-SNP	.											.	ZBTB1	93	.	0			c.A57G						PASS	.	A	,	347,4059	179.7+/-208.2	16,315,1872	102	97	99		57,57	-0.4	1	14	dbSNP_125	99	1884,6716	336.2+/-321.7	212,1460,2628	no	coding-synonymous,coding-synonymous	ZBTB1	NM_001123329.1,NM_014950.2	,	228,1775,4500	GG,GA,AA		21.907,7.8756,17.1536	,	19/714,19/645	64988279	2231,10775	2203	4300	6503	SO:0001819	synonymous_variant	22890	exon2			AAGAGAATGGGGT	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.57A>G	14.37:g.64988279A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	161	87	0.540373	NM_014950	A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	CCDS45126.1																																																																																			A|0.827;G|0.173	0.173	strong		0.393	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			G	64988279	A	G	64988279	2	3	23	1	0	0	0	0	0	0	0	1	17519	98	4	2		2	ZBTB1	14	64988279	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	264228	64988279	42361261	3373	19829										
ZBTB1	22890	hgsc.bcm.edu	37	chr14	64988924	64988924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaaattattagatgagcaTgtgctaacctgtactaacag	8	6	0	2	rs10133411	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:64988924T>C	ENST00000554015.1	+	4	1133	c.702T>C	c.(700-702)caT>caC	p.H234H	ZBTB1_ENST00000358738.3_Silent_p.H234H|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Silent_p.H234H			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	234					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TAGATGAGCATGTGCTAACCT	0.368													T|||	812	0.162141	0.0401	0.1254	5008	,	,		21323	0.2083		0.2326	False		,,,				2504	0.2331				p.H234H		Atlas-SNP	.											ZBTB1_ENST00000394712,adrenal_gland,adrenal_cortical_adenoma,0,2	ZBTB1	93	2	0			c.T702C						PASS	.	T	,	347,4059	179.7+/-208.2	16,315,1872	70	70	70		702,702	-1.9	1	14	dbSNP_119	70	1883,6717	335.4+/-321.4	212,1459,2629	yes	coding-synonymous,coding-synonymous	ZBTB1	NM_001123329.1,NM_014950.2	,	228,1774,4501	CC,CT,TT		21.8953,7.8756,17.1459	,	234/714,234/645	64988924	2230,10776	2203	4300	6503	SO:0001819	synonymous_variant	22890	exon2			TGAGCATGTGCTA	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.702T>C	14.37:g.64988924T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	126	77	0.611111	NM_014950	A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	CCDS45126.1																																																																																			T|0.831;C|0.169	0.169	strong		0.368	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			C	64988924	T	C	64988924	2	2	23	1	0	0	0	0	0	0	0	1	17519	1461	51	2		2	ZBTB1	14	64988924	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	645	64988924	42360616	3374	19830										
C14orf50	145376	hgsc.bcm.edu	37	chr14	65054858	65054858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcccagcaattaaaaaagcTatcaacatgcgttctccagt	6	12	2	0	rs723594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:65054858T>C	ENST00000298705.1	+	11	1023	c.927T>C	c.(925-927)gcT>gcC	p.A309A	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	309					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TTAAAAAAGCTATCAACATGC	0.428													C|||	213	0.0425319	0.0469	0.0461	5008	,	,		21889	0.0129		0.0845	False		,,,				2504	0.0215				p.A309A		Atlas-SNP	.											.	.	.	.	0			c.T927C						PASS	.	C		198,4208	808.1+/-415.9	4,190,2009	100	99	99		927	3.2	1	14	dbSNP_86	99	670,7930	788.6+/-407.6	30,610,3660	no	coding-synonymous	C14orf50	NM_172365.1		34,800,5669	CC,CT,TT		7.7907,4.4939,6.6738		309/423	65054858	868,12138	2203	4300	6503	SO:0001819	synonymous_variant	145376	exon11			AAAAGCTATCAAC		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.927T>C	14.37:g.65054858T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	124	39	0.314516	NM_172365	Q6NTH6	Silent	SNP	ENST00000298705.1	37	CCDS9767.1																																																																																			T|0.940;C|0.060	0.060	strong		0.428	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		C	65054858	T	C	65054858	2	2	23	1	0	0	0	0	0	0	0	1	1777	1509	53	3		3	C14orf50	14	65054858	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	65934	65054858	42294682	3375	19831										
PLEKHH1	57475	hgsc.bcm.edu	37	chr14	68053807	68053807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagattgcagaagctacctTcatcatggccagctatatga	8	9	2	3	rs118013098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:68053807T>G	ENST00000329153.5	+	29	4082	c.3950T>G	c.(3949-3951)tTc>tGc	p.F1317C	PLEKHH1_ENST00000417684.2_Silent_p.L258L	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1317	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAAGCTACCTTCATCATGGCC	0.498													T|||	7	0.00139776	0.0	0.0	5008	,	,		18391	0.0		0.007	False		,,,				2504	0.0				p.F1317C		Atlas-SNP	.											.	PLEKHH1	118	.	0			c.T3950G						PASS	.	T	CYS/PHE	4,3938		0,4,1967	61	66	64		3950	5.5	0.9	14	dbSNP_132	64	38,8266		0,38,4114	yes	missense	PLEKHH1	NM_020715.2	205	0,42,6081	GG,GT,TT		0.4576,0.1015,0.343	benign	1317/1365	68053807	42,12204	1971	4152	6123	SO:0001583	missense	57475	exon29			CTACCTTCATCAT	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3950T>G	14.37:g.68053807T>G	ENSP00000330278:p.Phe1317Cys	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	255	159	0.623529	NM_020715	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	T	21.5	4.152327	0.78001	0.001015	0.004576	ENSG00000054690	ENST00000329153	T	0.71461	-0.57	5.54	5.54	0.83059	FERM domain (1);	0.398053	0.28989	N	0.013497	T	0.49508	0.1561	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.52351	-0.8587	10	0.48119	T	0.1	.	14.4073	0.67090	0.0:0.0:0.0:1.0	.	1317	Q9ULM0	PKHH1_HUMAN	C	1317	ENSP00000330278:F1317C	ENSP00000330278:F1317C	F	+	2	0	PLEKHH1	67123560	0.960000	0.32886	0.910000	0.35882	0.977000	0.68977	4.841000	0.62824	2.326000	0.78906	0.533000	0.62120	TTC	T|0.997;G|0.003	0.003	strong		0.498	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		G	68053807	T	G	68053807	3	3	23	1	0	0	0	0	1	0	0	0	12076	1783	62	5	4060	5	PLEKHH1	14	68053807	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2998949	68053807	39295733	3376	19832										
RDH12	145226	hgsc.bcm.edu	37	chr14	68193731	68193731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctacctgctcctggagcGgctaaaggtgtctgcccctg	11	15	1	0	rs17852293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:68193731G>A	ENST00000551171.1	+	7	806	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	RDH12_ENST00000267502.3_Missense_Mutation_p.R161Q|RDH12_ENST00000539142.1_Missense_Mutation_p.R161Q	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	161			R -> Q (in dbSNP:rs17852293). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16269441, ECO:0000269|PubMed:21602930}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CTCCTGGAGCGGCTAAAGGTG	0.587													G|||	527	0.105232	0.0885	0.1513	5008	,	,		20733	0.1101		0.1143	False		,,,				2504	0.0808				p.R161Q		Atlas-SNP	.											RDH12,brain,glioma,0,1	RDH12	43	1	0			c.G482A						PASS	.	G	GLN/ARG	421,3985	206.8+/-228.3	17,387,1799	70	63	65		482	0.7	1	14	dbSNP_123	65	1135,7465	233.6+/-266.8	76,983,3241	yes	missense	RDH12	NM_152443.2	43	93,1370,5040	AA,AG,GG		13.1977,9.5552,11.9637	benign	161/317	68193731	1556,11450	2203	4300	6503	SO:0001583	missense	145226	exon7			TGGAGCGGCTAAA	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.482G>A	14.37:g.68193731G>A	ENSP00000449079:p.Arg161Gln	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	152	52	0.342105	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	241	0.11034798534798534	41	0.08333333333333333	47	0.1298342541436464	64	0.11188811188811189	89	0.11741424802110818	G	10.09	1.253769	0.22965	0.095552	0.131977	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89415	-2.51;-2.51;-2.51	5.66	0.738	0.18319	NAD(P)-binding domain (1);	0.197807	0.44483	N	0.000444	T	0.02342	0.0072	N	0.17901	0.54	0.34473	P	0.297021	B	0.26602	0.154	B	0.21917	0.037	T	0.29119	-1.0022	9	0.25751	T	0.34	.	5.8805	0.18852	0.2948:0.0:0.5847:0.1205	rs17852293	161	Q96NR8	RDH12_HUMAN	Q	161	ENSP00000449079:R161Q;ENSP00000267502:R161Q;ENSP00000438715:R161Q	ENSP00000267502:R161Q	R	+	2	0	RDH12	67263484	1.000000	0.71417	0.984000	0.44739	0.305000	0.27757	2.495000	0.45337	-0.123000	0.11745	-0.895000	0.02911	CGG	G|0.882;A|0.118	0.118	strong		0.587	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68193731	G	A	68193731	3	1	23	1	0	0	0	0	1	0	0	0	13191	1116	39	1	500	1	RDH12	14	68193731	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	139924	68193731	39155809	3377	19833										
ZFYVE26	23503	hgsc.bcm.edu	37	chr14	68257352	68257352	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgccagttctccgaatggTgctgctacccgcatctgagt	10	13	2	1	rs17192170	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:68257352T>A	ENST00000347230.4	-	15	2830	c.2692A>T	c.(2692-2694)Acc>Tcc	p.T898S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T898S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	898			T -> S (in dbSNP:rs17192170).		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)		CTCCGAATGGTGCTGCTACCC	0.547													T|||	215	0.0429313	0.0061	0.0648	5008	,	,		20189	0.0		0.1153	False		,,,				2504	0.047				p.T898S		Atlas-SNP	.											.	ZFYVE26	223	.	0			c.A2692T						PASS	.	T	SER/THR	122,4284	91.6+/-130.3	4,114,2085	149	118	128		2692	2.4	1	14	dbSNP_123	128	1032,7568	219.9+/-257.8	61,910,3329	yes	missense	ZFYVE26	NM_015346.3	58	65,1024,5414	AA,AT,TT		12.0,2.769,8.8728	benign	898/2540	68257352	1154,11852	2203	4300	6503	SO:0001583	missense	23503	exon15			GAATGGTGCTGCT	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.2692A>T	14.37:g.68257352T>A	ENSP00000251119:p.Thr898Ser	Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	356	218	0.61236	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	102	0.046703296703296704	1	0.0020325203252032522	27	0.07458563535911603	0	0.0	74	0.09762532981530343	T	12.54	1.967920	0.34754	0.02769	0.12	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28895	1.73;1.59	5.95	2.38	0.29361	.	0.540708	0.19473	N	0.113394	T	0.00300	0.0009	M	0.65975	2.015	0.34490	P	0.29508900000000005	B;B	0.23128	0.041;0.08	B;B	0.19946	0.027;0.023	T	0.18461	-1.0336	9	0.06494	T	0.89	-15.8916	2.4765	0.04577	0.1242:0.1348:0.1296:0.6114	rs17192170;rs52807491;rs17192170	898;898	G3V2D8;Q68DK2	.;ZFY26_HUMAN	S	898;877;898	ENSP00000251119:T898S;ENSP00000450603:T898S	ENSP00000251119:T898S	T	-	1	0	ZFYVE26	67327105	1.000000	0.71417	0.991000	0.47740	0.836000	0.47400	1.256000	0.32921	0.504000	0.28082	-0.336000	0.08194	ACC	T|0.932;A|0.068	0.068	strong		0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68257352	T	A	68257352	3	1	23	1	0	0	0	0	1	0	0	0	17665	1696	59	5	5039	5	ZFYVE26	14	68257352	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	63621	68257352	39092188	3378	19834										
DCAF5	8816	hgsc.bcm.edu	37	chr14	69521345	69521345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcccttcatctgcctccccGgtcaccaaggaggtctctcc	7	19	4	0	rs61741172	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:69521345G>A	ENST00000341516.5	-	9	2205	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Silent_p.T604T|DCAF5_ENST00000554215.1_Silent_p.T604T|DCAF5_ENST00000557386.1_Silent_p.T685T	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	686					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTGCCTCCCCGGTCACCAAGG	0.473													G|||	643	0.128395	0.0182	0.1715	5008	,	,		17008	0.001		0.3787	False		,,,				2504	0.1207				p.T686T		Atlas-SNP	.											.	DCAF5	67	.	0			c.C2058T						PASS	.	G		296,4110	151.4+/-185.3	16,264,1923	98	107	104		2058	-5.5	0	14	dbSNP_129	104	3045,5555	456.4+/-364.1	565,1915,1820	no	coding-synonymous	DCAF5	NM_003861.2		581,2179,3743	AA,AG,GG		35.407,6.7181,25.6881		686/943	69521345	3341,9665	2203	4300	6503	SO:0001819	synonymous_variant	8816	exon9			CTCCCCGGTCACC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2058C>T	14.37:g.69521345G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	122	61	0.5	NM_003861	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	CCDS32106.1																																																																																			G|0.761;A|0.239	0.239	strong		0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		A	69521345	G	A	69521345	2	1	23	1	0	0	0	0	0	0	0	1	4273	1103	39	1		1	DCAF5	14	69521345	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1263993	69521345	37828195	3379	19835										
SLC8A3	6547	hgsc.bcm.edu	37	chr14	70634801	70634801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccattgggtttcttaatTgtcacctccctctcttgaga	6	12	4	1	rs17765575	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:70634801T>C	ENST00000381269.2	-	2	1092	c.339A>G	c.(337-339)acA>acG	p.T113T	SLC8A3_ENST00000357887.3_Silent_p.T113T|SLC8A3_ENST00000534137.1_Silent_p.T113T|SLC8A3_ENST00000528359.1_Silent_p.T113T|SLC8A3_ENST00000356921.2_Silent_p.T113T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	113					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTCTTAATTGTCACCTCCC	0.488													C|||	367	0.0732827	0.0461	0.0865	5008	,	,		22443	0.0486		0.1581	False		,,,				2504	0.0389				p.T113T		Atlas-SNP	.											.	SLC8A3	234	.	0			c.A339G						PASS	.	C	,,,	270,4136	801.6+/-415.6	9,252,1942	103	89	94		339,339,339,339	-9.9	0.6	14	dbSNP_123	94	1417,7183	752.6+/-407.4	131,1155,3014	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	,,,	140,1407,4956	CC,CT,TT		16.4767,6.128,12.9709	,,,	113/926,113/925,113/922,113/928	70634801	1687,11319	2203	4300	6503	SO:0001819	synonymous_variant	6547	exon2			CTTAATTGTCACC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.339A>G	14.37:g.70634801T>C		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	354	130	0.367232	NM_183002	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																			T|0.893;C|0.107	0.107	strong		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			C	70634801	T	C	70634801	2	2	23	1	0	0	0	0	0	0	0	1	14708	1799	63	2		2	SLC8A3	14	70634801	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1113456	70634801	36714739	3380	19836										
ADAM21	8747	hgsc.bcm.edu	37	chr14	70924507	70924507	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctacacagatgaccgtgcActcctggaggatcagctctt	9	13	2	2	rs3751524	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:70924507A>C	ENST00000603540.1	+	2	549	c.291A>C	c.(289-291)gcA>gcC	p.A97A	ADAM21_ENST00000267499.3_Silent_p.A97A|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	97					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A97A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGACCGTGCACTCCTGGAGG	0.512																																					p.A97A		Atlas-SNP	.											ADAM21,NS,carcinoma,0,1	ADAM21	181	1	1	Substitution - coding silent(1)	stomach(1)	c.A291C						scavenged	.						95	103	101					14																	70924507		2203	4300	6503	SO:0001819	synonymous_variant	8747	exon2			CCGTGCACTCCTG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.291A>C	14.37:g.70924507A>C		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	242	73	0.301653	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																			A|0.780;C|0.220	0.220	strong		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			C	70924507	A	C	70924507	2	2	23	1	0	0	0	0	0	0	0	1	243	146	6	5		5	ADAM21	14	70924507	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	289706	70924507	36425033	3381	19837										
MAP3K9	4293	hgsc.bcm.edu	37	chr14	71204973	71204973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcacttacccttcatctccCgaggcaagctccttctgacc	7	17	3	1	rs7153601	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:71204973C>T	ENST00000554752.2	-	8	1832	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	MAP3K9_ENST00000553414.1_Silent_p.S353S|MAP3K9_ENST00000555993.2_Silent_p.S611S|MAP3K9_ENST00000554146.1_Silent_p.S348S|MAP3K9_ENST00000381250.4_Silent_p.S611S	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	611					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTTCATCTCCCGAGGCAAGCT	0.493													C|||	1084	0.216454	0.1573	0.2565	5008	,	,		19782	0.3363		0.167	False		,,,				2504	0.1953				p.S611S	GBM(114;411 1587 13539 28235 50070)	Atlas-SNP	.											.	MAP3K9	109	.	0			c.G1833A						PASS	.	C		698,3708	293.3+/-282.5	57,584,1562	131	118	122		1833	-6.1	1	14	dbSNP_116	122	1399,7201	270.4+/-288.9	109,1181,3010	no	coding-synonymous	MAP3K9	NM_033141.2		166,1765,4572	TT,TC,CC		16.2674,15.842,16.1233		611/1119	71204973	2097,10909	2203	4300	6503	SO:0001819	synonymous_variant	4293	exon8			ATCTCCCGAGGCA	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1833G>A	14.37:g.71204973C>T		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	244	82	0.336066	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																				C|0.823;T|0.177	0.177	strong		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			T	71204973	C	T	71204973	2	4	23	1	0	0	0	0	0	0	0	1	9257	639	23	1		1	MAP3K9	14	71204973	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	280466	71204973	36144567	3382	19838										
SIPA1L1	26037	hgsc.bcm.edu	37	chr14	72138078	72138078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgacccttctggcaagtttcCgttcatctctctggcttcca	7	15	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:72138078C>T	ENST00000555818.1	+	8	2846	c.2498C>T	c.(2497-2499)cCg>cTg	p.P833L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P833L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P833L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P308L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	833					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCAAGTTTCCGTTCATCTCT	0.532																																					p.P833L		Atlas-SNP	.											SIPA1L1,colon,carcinoma,0,1	SIPA1L1	219	1	0			c.C2498T						scavenged	.						78	72	74					14																	72138078		2203	4300	6503	SO:0001583	missense	26037	exon8			AGTTTCCGTTCAT	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2498C>T	14.37:g.72138078C>T	ENSP00000450832:p.Pro833Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	165	3	0.0181818	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002476	0.93227	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.64997	1.995	0.80722	D	1	D;B;D;D;D	0.76494	0.999;0.181;0.995;0.997;0.998	D;B;P;P;P	0.69479	0.964;0.029;0.707;0.886;0.84	T	0.64424	-0.6411	10	0.51188	T	0.08	-19.4596	20.8598	0.99761	0.0:1.0:0.0:0.0	.	308;833;308;833;833	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	L	833;833;833;308	ENSP00000370630:P833L;ENSP00000450832:P833L;ENSP00000351352:P833L;ENSP00000440682:P308L	ENSP00000351352:P833L	P	+	2	0	SIPA1L1	71207831	1.000000	0.71417	0.844000	0.33320	0.822000	0.46500	5.974000	0.70465	2.937000	0.99478	0.650000	0.86243	CCG	.	.	none		0.532	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72138078	C	T	72138078	3	4	23	1	0	0	0	0	1	0	0	0	14329	652	23	1	2524	1	SIPA1L1	14	72138078	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	933105	72138078	35211462	3383	19839										
DPF3	8110	hgsc.bcm.edu	37	chr14	73137882	73137882	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctgctgtgggcgaaccccGgccactgcggcgtcctcgac	13	16	1	0	rs202093453		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:73137882G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000541685.1_Missense_Mutation_p.R346W|DPF3_ENST00000546183.1_Missense_Mutation_p.R356W|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCGAACCCCGGCCACTGCGG	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16614	0.0		0.0	False		,,,				2504	0.0				p.R346W		Atlas-SNP	.											.	DPF3	117	.	0			c.C1036T						PASS	.	G	TRP/ARG	1,4029		0,1,2014	55	57	56		1036	4.8	1	14		56	8,8334		0,8,4163	yes	missense	DPF3	NM_012074.3	101	0,9,6177	AA,AG,GG		0.0959,0.0248,0.0727	benign	346/358	73137882	9,12363	2015	4171	6186	SO:0001627	intron_variant	8110	exon9			AACCCCGGCCACT	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3065C>T	14.37:g.73137882G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	139	91	0.654676	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	G	17.16	3.317391	0.60524	2.48E-4	9.59E-4	ENSG00000205683	ENST00000541685;ENST00000546183	T;T	0.67523	-0.25;-0.27	5.79	4.82	0.62117	.	.	.	.	.	T	0.47619	0.1455	N	0.08118	0	0.27889	N	0.939402	D;P	0.60160	0.987;0.923	P;B	0.44561	0.453;0.237	T	0.42155	-0.9468	9	0.87932	D	0	.	7.5751	0.27931	0.0:0.117:0.3984:0.4846	.	356;346	F5H575;Q92784-2	.;.	W	346;356	ENSP00000441640:R346W;ENSP00000444662:R356W	ENSP00000381791:R401W	R	-	1	2	DPF3	72207635	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.667000	0.37471	1.366000	0.46076	0.655000	0.94253	CGG	.	.	weak		0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			A	73137882	G	A	73137882	1	1	23	0	1	0	0	0	0	0	0	0	4718	1115	39	1		1	DPF3	14	73137882	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	999804	73137882	34211658	3384	19840										
DCAF4	26094	hgsc.bcm.edu	37	chr14	73425462	73425462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggctcccggggcgcgccGgggctgctcatggctgtcgg	21	13	1	0	rs12882409	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:73425462G>A	ENST00000358377.2	+	14	1657	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	DCAF4_ENST00000394234.2_Silent_p.P379P|DCAF4_ENST00000353777.3_Silent_p.P309P|DCAF4_ENST00000555042.1_Silent_p.P473P|DCAF4_ENST00000509153.1_Silent_p.P419P	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	479					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GGGGCGCGCCGGGGCTGCTCA	0.627													G|||	713	0.142372	0.0847	0.1153	5008	,	,		16333	0.1548		0.175	False		,,,				2504	0.1933				p.P479P		Atlas-SNP	.											.	DCAF4	40	.	0			c.G1437A						PASS	.	G	,,,,	474,3932		35,404,1764	44	54	51		1419,1374,1437,1137,1257	-10	0.1	14	dbSNP_121	51	1533,7067		133,1267,2900	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	,,,,	168,1671,4664	AA,AG,GG		17.8256,10.7581,15.4313	,,,,	473/490,458/475,479/496,379/396,419/436	73425462	2007,10999	2203	4300	6503	SO:0001819	synonymous_variant	26094	exon14			CGCGCCGGGGCTG	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1437G>A	14.37:g.73425462G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	79	32	0.405063	NM_015604	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	CCDS9809.1																																																																																			G|0.844;A|0.156	0.156	strong		0.627	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		A	73425462	G	A	73425462	2	1	23	1	0	0	0	0	0	0	0	1	4270	1103	39	1		1	DCAF4	14	73425462	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	287580	73425462	33924078	3385	19841										
ZFYVE1	53349	hgsc.bcm.edu	37	chr14	73440864	73440864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaccttccgagcaatgagCgttccaccttcatcgtccac	6	18	1	1	rs12931	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:73440864C>T	ENST00000556143.1	-	11	2745	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ZFYVE1_ENST00000555072.1_Silent_p.T260T|ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000553891.1_Silent_p.T675T|ZFYVE1_ENST00000318876.5_Silent_p.T661T|ZFYVE1_ENST00000394207.2_Silent_p.T260T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	675					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGCAATGAGCGTTCCACCTT	0.537													T|||	2400	0.479233	0.5877	0.4049	5008	,	,		20915	0.371		0.4781	False		,,,				2504	0.498				p.T675T		Atlas-SNP	.											.	ZFYVE1	67	.	0			c.G2025A						PASS	.	T	,	2386,2020	562.1+/-380.9	628,1130,445	157	121	133		2025,780	-9.5	0.2	14	dbSNP_52	133	4175,4425	586.6+/-392.1	1029,2117,1154	yes	coding-synonymous,coding-synonymous	ZFYVE1	NM_021260.2,NM_178441.1	,	1657,3247,1599	TT,TC,CC		48.5465,45.8466,49.5541	,	675/778,260/363	73440864	6561,6445	2203	4300	6503	SO:0001819	synonymous_variant	53349	exon11			AATGAGCGTTCCA	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2025G>A	14.37:g.73440864C>T		Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	143	140	0.979021	NM_021260	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	CCDS9811.1																																																																																			C|0.501;T|0.499	0.499	strong		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		T	73440864	C	T	73440864	2	4	23	1	0	0	0	0	0	0	0	1	17660	755	27	1		1	ZFYVE1	14	73440864	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15402	73440864	33908676	3386	19842										
ACOT4	122970	hgsc.bcm.edu	37	chr14	74060476	74060476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttggaatatcgagccagCctccttgctggccatggctt	10	13	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:74060476C>A	ENST00000326303.4	+	2	782	c.528C>A	c.(526-528)agC>agA	p.S176R		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	176					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ATCGAGCCAGCCTCCTTGCTG	0.463																																					p.S176R		Atlas-SNP	.											.	ACOT4	25	.	0			c.C528A						PASS	.						102	96	98					14																	74060476		2203	4300	6503	SO:0001583	missense	122970	exon2			AGCCAGCCTCCTT	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.528C>A	14.37:g.74060476C>A	ENSP00000323071:p.Ser176Arg	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	181	85	0.469613	NM_152331	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677650	0.68042	.	.	ENSG00000177465	ENST00000326303	T	0.39592	1.07	5.25	2.34	0.29019	.	0.451951	0.27437	N	0.019371	T	0.64427	0.2597	M	0.91561	3.22	0.37397	D	0.912664	D	0.76494	0.999	D	0.66979	0.948	T	0.68573	-0.5373	10	0.87932	D	0	-1.9598	6.2571	0.20879	0.0:0.6343:0.1404:0.2253	.	176	Q8N9L9	ACOT4_HUMAN	R	176	ENSP00000323071:S176R	ENSP00000323071:S176R	S	+	3	2	ACOT4	73130229	0.523000	0.26274	1.000000	0.80357	0.995000	0.86356	-0.120000	0.10660	0.554000	0.29061	0.561000	0.74099	AGC	.	.	none		0.463	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		A	74060476	C	A	74060476	3	1	23	1	0	0	0	0	1	0	0	0	153	738	26	4	534	4	ACOT4	14	74060476	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	619612	74060476	33289064	3387	19843										
ACOT4	122970	hgsc.bcm.edu	37	chr14	74060487	74060487	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgagccagcctccttgctgGccatggctttgccacgttgg	12	14	0	0	rs45522539	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:74060487G>C	ENST00000326303.4	+	2	793	c.539G>C	c.(538-540)gGc>gCc	p.G180A		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	180					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CTCCTTGCTGGCCATGGCTTT	0.473													G|||	176	0.0351438	0.0008	0.0159	5008	,	,		18474	0.0317		0.0249	False		,,,				2504	0.1094				p.G180A		Atlas-SNP	.											.	ACOT4	25	.	0			c.G539C						PASS	.	G	ALA/GLY	16,4390	23.3+/-48.9	0,16,2187	109	102	104		539	3.3	1	14	dbSNP_127	104	214,8386	89.4+/-151.6	4,206,4090	no	missense	ACOT4	NM_152331.3	60	4,222,6277	CC,CG,GG		2.4884,0.3631,1.7684	benign	180/422	74060487	230,12776	2203	4300	6503	SO:0001583	missense	122970	exon2			TTGCTGGCCATGG	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.539G>C	14.37:g.74060487G>C	ENSP00000323071:p.Gly180Ala	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	191	72	0.376963	NM_152331	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	CCDS9817.1	37	0.01694139194139194	0	0.0	5	0.013812154696132596	16	0.027972027972027972	16	0.021108179419525065	G	12.96	2.094339	0.36952	0.003631	0.024884	ENSG00000177465	ENST00000326303	T	0.38722	1.12	5.25	3.35	0.38373	.	0.569567	0.20198	N	0.097158	T	0.10594	0.0259	L	0.43923	1.385	0.37406	D	0.913058	B	0.30563	0.285	B	0.21360	0.034	T	0.10567	-1.0624	10	0.34782	T	0.22	5.6437	5.2094	0.15308	0.1675:0.0:0.6475:0.185	rs45522539	180	Q8N9L9	ACOT4_HUMAN	A	180	ENSP00000323071:G180A	ENSP00000323071:G180A	G	+	2	0	ACOT4	73130240	0.462000	0.25791	0.991000	0.47740	0.992000	0.81027	1.662000	0.37418	1.138000	0.42230	0.561000	0.74099	GGC	G|0.983;C|0.017	0.017	strong		0.473	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		C	74060487	G	C	74060487	3	2	23	1	0	0	0	0	1	0	0	0	153	1203	42	4	545	4	ACOT4	14	74060487	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11	74060487	33289053	3388	19844										
C14orf43	91748	hgsc.bcm.edu	37	chr14	74205878	74205878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttgctgcgagggttgctgCggcatggaatagaagttctc	16	7	1	1	rs17782128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:74205878C>T	ENST00000286523.5	-	2	1616	c.834G>A	c.(832-834)ccG>ccA	p.P278P	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.P278P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	278	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										AGGGTTGCTGCGGCATGGAAT	0.627													c|||	760	0.151757	0.0469	0.1182	5008	,	,		15558	0.1409		0.1839	False		,,,				2504	0.2955				p.P278P		Atlas-SNP	.											C14orf43,bladder,carcinoma,-1,1	.	.	1	0			c.G834A						PASS	.	A	,	275,4131	149.5+/-183.7	12,251,1940	29	31	30		834,834	-1	0.9	14	dbSNP_123	30	1666,6934	297.9+/-303.7	162,1342,2796	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	174,1593,4736	TT,TC,CC		19.3721,6.2415,14.9239	,	278/1046,278/1046	74205878	1941,11065	2203	4300	6503	SO:0001819	synonymous_variant	91748	exon2			TTGCTGCGGCATG	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.834G>A	14.37:g.74205878C>T		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	168	59	0.35119	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																			C|0.861;T|0.139	0.139	strong		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74205878	C	T	74205878	2	4	23	1	0	0	0	0	0	0	0	1	1774	755	27	1		1	C14orf43	14	74205878	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	145391	74205878	33143662	3389	19845										
FAM161B	145483	hgsc.bcm.edu	37	chr14	74402693	74402693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctctttctcttgaacagcCcgggtgccttgacccttgtt	9	13	2	2	rs17182699	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:74402693C>T	ENST00000534936.1	-	8	1869	c.1764G>A	c.(1762-1764)cgG>cgA	p.R588R	FAM161B_ENST00000286544.3_Silent_p.R651R|RP5-1021I20.5_ENST00000555916.1_RNA			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	588										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTTGAACAGCCCGGGTGCCTT	0.468													C|||	219	0.04373	0.0083	0.0648	5008	,	,		18871	0.0		0.1123	False		,,,				2504	0.0511				p.R651R		Atlas-SNP	.											.	FAM161B	67	.	0			c.G1953A						PASS	.	C		96,4310	78.3+/-116.7	2,92,2109	144	133	137		1953	-4.7	0	14	dbSNP_123	137	887,7713	199.4+/-243.5	56,775,3469	no	coding-synonymous	FAM161B	NM_152445.2		58,867,5578	TT,TC,CC		10.314,2.1788,7.5581		651/711	74402693	983,12023	2203	4300	6503	SO:0001819	synonymous_variant	145483	exon8			AACAGCCCGGGTG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1764G>A	14.37:g.74402693C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	229	92	0.401747	NM_152445	B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37		119	0.05448717948717949	1	0.0020325203252032522	29	0.08011049723756906	0	0.0	89	0.11741424802110818	C	3.048	-0.196076	0.06259	0.021788	0.10314	ENSG00000156050	ENST00000556794	.	.	.	4.86	-4.65	0.03339	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.22487	-1.0215	3	.	.	.	20.474	1.6237	0.02719	0.2691:0.1841:0.099:0.4477	rs17182699;rs60311174;rs17182699	.	.	.	S	116	.	.	G	-	1	0	FAM161B	73472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.111000	0.01333	-0.712000	0.04988	-0.768000	0.03414	GGC	C|0.935;T|0.065	0.065	strong		0.468	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		T	74402693	C	T	74402693	2	4	23	1	0	0	0	0	0	0	0	1	5473	610	22	2		2	FAM161B	14	74402693	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	196815	74402693	32946847	3390	19846										
C14orf45	80127	hgsc.bcm.edu	37	chr14	74516497	74516497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaagaaggtagtaaacttGgagactgctctgagttacat	11	6	1	4	rs34076068	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:74516497G>A	ENST00000394009.3	+	8	1008	c.885G>A	c.(883-885)ttG>ttA	p.L295L	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.L20L	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	295					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TAGTAAACTTGGAGACTGCTC	0.398													G|||	480	0.0958466	0.0076	0.232	5008	,	,		21736	0.0873		0.1312	False		,,,				2504	0.091				p.L295L		Atlas-SNP	.											.	.	.	.	0			c.G885A						PASS	.	G		145,4261	95.7+/-134.4	3,139,2061	60	61	60		885	4.9	1	14	dbSNP_126	60	1266,7332	245.6+/-274.3	82,1102,3115	no	coding-synonymous	C14orf45	NM_025057.2		85,1241,5176	AA,AG,GG		14.7244,3.291,10.8505		295/530	74516497	1411,11593	2203	4299	6502	SO:0001819	synonymous_variant	80127	exon8			AAACTTGGAGACT	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.885G>A	14.37:g.74516497G>A		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	279	187	0.670251	NM_025057	Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	CCDS32119.2																																																																																			G|0.885;A|0.115	0.115	strong		0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		A	74516497	G	A	74516497	2	1	23	1	0	0	0	0	0	0	0	1	1775	1339	47	2		2	C14orf45	14	74516497	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113804	74516497	32833043	3391	19847										
ACYP1	97	hgsc.bcm.edu	37	chr14	75520272	75520272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccattcctgcatatgacgcaCcttggagatgggaccttgca	10	12	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:75520272C>A	ENST00000238618.3	-	3	278	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	ACYP1_ENST00000555463.1_Missense_Mutation_p.V89L|MLH3_ENST00000355774.2_5'Flank|ACYP1_ENST00000555694.1_Missense_Mutation_p.V59L|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|MLH3_ENST00000556257.1_5'Flank	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	59	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478																																					p.V59L		Atlas-SNP	.											ACYP1,NS,carcinoma,+2,1	ACYP1	6	1	0			c.G175T						scavenged	.						249	222	231					14																	75520272		2203	4300	6503	SO:0001583	missense	97	exon3			GACGCACCTTGGA	X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.175G>T	14.37:g.75520272C>A	ENSP00000238618:p.Val59Leu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	231	5	0.021645	NM_001107	A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	37	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650821	0.87958	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.73	5.73	0.89815	Acylphosphatase-like (3);	0.130135	0.51477	D	0.000084	T	0.79131	0.4394	.	.	.	0.80722	D	1	P	0.35894	0.526	P	0.52031	0.688	T	0.75164	-0.3414	8	0.39692	T	0.17	-4.3745	19.9568	0.97222	0.0:1.0:0.0:0.0	.	59	P07311	ACYP1_HUMAN	L	59;89;59	.	ENSP00000238618:V59L	V	-	1	0	ACYP1	74590025	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.323000	0.79105	2.729000	0.93468	0.460000	0.39030	GTG	.	.	none		0.478	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1			A	75520272	C	A	75520272	3	1	23	1	0	0	0	0	1	0	0	0	228	507	18	4	128	4	ACYP1	14	75520272	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1003775	75520272	31829268	3392	19848										
TTLL5	23093	hgsc.bcm.edu	37	chr14	76368544	76368544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccttaaccctgcagcctTtgtgcccatcaccagctcta	6	17	2	0	rs1133834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:76368544T>C	ENST00000298832.9	+	31	4005	c.3800T>C	c.(3799-3801)tTt>tCt	p.F1267S		NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1267			F -> S (in dbSNP:rs1133834). {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:17116691}.		fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTGCAGCCTTTGTGCCCATC	0.562													T|||	2131	0.425519	0.5832	0.366	5008	,	,		19061	0.494		0.1928	False		,,,				2504	0.4233				p.F1267S		Atlas-SNP	.											.	TTLL5	102	.	0			c.T3800C						PASS	.	T	SER/PHE	2238,2168	594.9+/-388.3	570,1098,535	85	77	80		3800	1.5	0.3	14	dbSNP_86	80	1537,7063	286.6+/-297.8	137,1263,2900	yes	missense	TTLL5	NM_015072.4	155	707,2361,3435	CC,CT,TT		17.8721,49.2056,29.0251	benign	1267/1282	76368544	3775,9231	2203	4300	6503	SO:0001583	missense	23093	exon31			CAGCCTTTGTGCC	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3800T>C	14.37:g.76368544T>C	ENSP00000298832:p.Phe1267Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	110	40	0.363636	NM_015072	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	835	0.3823260073260073	292	0.5934959349593496	125	0.3453038674033149	277	0.48426573426573427	141	0.18601583113456466	T	13.21	2.170428	0.38315	0.507944	0.178721	ENSG00000119685	ENST00000286653;ENST00000298832	T	0.02763	4.17	5.43	1.48	0.22813	.	2.780490	0.00890	N	0.002234	T	0.00012	0.0000	N	0.08118	0	0.58432	P	6.999999999979245E-6	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38972	-0.9636	9	0.09590	T	0.72	.	1.2609	0.02001	0.1796:0.1055:0.1866:0.5283	rs1133834;rs2272583;rs3195915;rs52790173;rs61039434;rs1133834	341;1267	F8W7N3;Q6EMB2	.;TTLL5_HUMAN	S	341;1267	ENSP00000298832:F1267S	ENSP00000286653:F341S	F	+	2	0	TTLL5	75438297	0.014000	0.17966	0.310000	0.25168	0.975000	0.68041	0.410000	0.21098	0.346000	0.23899	-0.316000	0.08728	TTT	C|0.345;N|0.000	0.345	strong		0.562	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		C	76368544	T	C	76368544	3	2	23	1	0	0	0	0	1	0	0	0	16727	1841	64	2	3918	2	TTLL5	14	76368544	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	848272	76368544	30980996	3393	19849										
ANGEL1	23357	hgsc.bcm.edu	37	chr14	77269788	77269788	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcgatgctgcagaagcggAaacgtagcaggaagtctcgg	15	8	1	1	rs2075773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77269788A>C	ENST00000251089.2	-	7	1656	c.1544T>G	c.(1543-1545)tTc>tGc	p.F515C	ANGEL1_ENST00000557179.1_Missense_Mutation_p.F80C	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	515			F -> C (in dbSNP:rs2075773).					p.F515C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCAGAAGCGGAAACGTAGCAG	0.478													A|||	646	0.128994	0.1127	0.0663	5008	,	,		20752	0.2381		0.1083	False		,,,				2504	0.1043				p.F515C		Atlas-SNP	.											ANGEL1,NS,carcinoma,0,1	ANGEL1	63	1	1	Substitution - Missense(1)	stomach(1)	c.T1544G						PASS	.	A	CYS/PHE	525,3881	239.6+/-250.7	32,461,1710	121	112	115		1544	5.9	1	14	dbSNP_96	115	886,7714	198.7+/-243.0	45,796,3459	yes	missense	ANGEL1	NM_015305.3	205	77,1257,5169	CC,CA,AA		10.3023,11.9156,10.8488	possibly-damaging	515/671	77269788	1411,11595	2203	4300	6503	SO:0001583	missense	23357	exon7			AAGCGGAAACGTA	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1544T>G	14.37:g.77269788A>C	ENSP00000251089:p.Phe515Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	137	46	0.335766	NM_015305	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	307	0.14056776556776557	60	0.12195121951219512	27	0.07458563535911603	142	0.24825174825174826	78	0.10290237467018469	A	19.81	3.895803	0.72639	0.119156	0.103023	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.81078	-1.45;-1.45	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.177612	0.51477	D	0.000099	T	0.00073	0.0002	L	0.42245	1.32	0.28690	P	0.9046536000000001	D	0.69078	0.997	D	0.63113	0.911	T	0.00514	-1.1695	9	0.66056	D	0.02	-6.1924	14.9948	0.71421	1.0:0.0:0.0:0.0	rs2075773;rs56917680;rs2075773	515	Q9UNK9	ANGE1_HUMAN	C	515;80	ENSP00000251089:F515C;ENSP00000451534:F80C	ENSP00000251089:F515C	F	-	2	0	ANGEL1	76339541	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.629000	0.74267	2.279000	0.76181	0.533000	0.62120	TTC	A|0.875;C|0.125	0.125	strong		0.478	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		C	77269788	A	C	77269788	3	2	23	1	0	0	0	0	1	0	0	0	608	246	9	5	484	5	ANGEL1	14	77269788	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	901244	77269788	30079752	3394	19850										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493794	77493794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctgctgctgctgctgTtgctgctgctgctgctgctg	14	12	0	0	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77493794T>C	ENST00000238647.3	-	1	1240	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgttgctgctgct	0.697													T|||	1146	0.228834	0.1649	0.1758	5008	,	,		5976	0.2659		0.2614	False		,,,				2504	0.2812				p.Q114Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.A342G						PASS	.	-		160,2330		6,148,1091	2	2	2		342	0.6	0	14	dbSNP_125	2	324,4012		7,310,1851	no	coding-synonymous	IRF2BPL	NM_024496.2		13,458,2942	CC,CT,TT		7.4723,6.4257,7.0905		114/797	77493794	484,6342	1245	2168	3413	SO:0001819	synonymous_variant	64207	exon1			CTGCTGTTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342A>G	14.37:g.77493794T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	18	12	0.666667	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	weak		0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		C	77493794	T	C	77493794	2	2	23	1	0	0	0	0	0	0	0	1	1773	1722	60	2		2	C14orf4	14	77493794	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	224006	77493794	29855746	3395	19851										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493809	77493809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgttgctgctgctgctgCtgctgttgctgttgctgttg	14	9	0	0	rs61991638		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77493809C>T	ENST00000238647.3	-	1	1225	c.327G>A	c.(325-327)caG>caA	p.Q109Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	109	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgctgctgttgct	0.687																																					p.Q109Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.G327A						PASS	.						2	2	2					14																	77493809		1179	2145	3324	SO:0001819	synonymous_variant	64207	exon1			CTGCTGCTGCTGT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.327G>A	14.37:g.77493809C>T		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	13	4	0.307692	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			C|0.978;T|0.022	0.022	strong		0.687	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		T	77493809	C	T	77493809	2	4	23	1	0	0	0	0	0	0	0	1	1773	796	28	2		2	C14orf4	14	77493809	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15	77493809	29855731	3396	19852										
C14orf174	161394	hgsc.bcm.edu	37	chr14	77843971	77843971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaaagagggggagccagaCagtgctaagaacgtgcagct	14	8	1	3	rs45540040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77843971C>T	ENST00000216471.4	+	1	496	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	70										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGAGCCAGACAGTGCTAAGA	0.547													c|||	709	0.141573	0.059	0.2651	5008	,	,		18232	0.0159		0.2038	False		,,,				2504	0.2311				p.D70D		Atlas-SNP	.											.	SAMD15	60	.	0			c.C210T						PASS	.	G		409,3997	201.8+/-224.7	16,377,1810	97	93	94		210	-2.1	0	14	dbSNP_127	94	1685,6915	307.2+/-308.3	182,1321,2797	no	coding-synonymous	SAMD15	NM_001010860.1		198,1698,4607	TT,TC,CC		19.593,9.2828,16.1003		70/675	77843971	2094,10912	2203	4300	6503	SO:0001819	synonymous_variant	161394	exon1			GCCAGACAGTGCT	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.210C>T	14.37:g.77843971C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	93	58	0.623656	NM_001010860	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																			C|0.848;T|0.152	0.152	strong		0.547	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		T	77843971	C	T	77843971	2	4	23	1	0	0	0	0	0	0	0	1	1759	477	17	2		2	C14orf174	14	77843971	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	350162	77843971	29505569	3397	19853										
C14orf174	161394	hgsc.bcm.edu	37	chr14	77844265	77844265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgccaccaacggaaaccatGtctgaggtttcgggggccac	13	12	1	1	rs45527334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77844265G>A	ENST00000216471.4	+	1	790	c.504G>A	c.(502-504)atG>atA	p.M168I	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	168			M -> I (in dbSNP:rs45527334).							breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAACCATGTCTGAGGTTT	0.488													G|||	709	0.141573	0.059	0.2651	5008	,	,		18678	0.0159		0.2038	False		,,,				2504	0.2311				p.M168I		Atlas-SNP	.											.	SAMD15	60	.	0			c.G504A						PASS	.	G	ILE/MET	404,4002	194.0+/-219.0	16,372,1815	86	94	92		504	-1.5	0	14	dbSNP_127	92	1681,6919	298.1+/-303.7	182,1317,2801	yes	missense	SAMD15	NM_001010860.1	10	198,1689,4616	AA,AG,GG		19.5465,9.1693,16.0311	possibly-damaging	168/675	77844265	2085,10921	2203	4300	6503	SO:0001583	missense	161394	exon1			AACCATGTCTGAG	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.504G>A	14.37:g.77844265G>A	ENSP00000216471:p.Met168Ile	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	56	31	0.553571	NM_001010860	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	289	0.13232600732600733	31	0.06300813008130081	104	0.287292817679558	8	0.013986013986013986	146	0.19261213720316622	G	11.61	1.688514	0.29962	0.091693	0.195465	ENSG00000100583	ENST00000216471	T	0.18657	2.2	4.45	-1.46	0.08800	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	8	0.42905	T	0.14	5.3758	4.6975	0.12811	0.5573:0.1817:0.261:0.0	rs45527334;rs57688204;rs61729328	168	Q9P1V8	SAM15_HUMAN	I	168	ENSP00000216471:M168I	ENSP00000216471:M168I	M	+	3	0	SAMD15	76914018	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.322000	0.08007	0.034000	0.15491	0.484000	0.47621	ATG	G|0.848;A|0.152	0.152	strong		0.488	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		A	77844265	G	A	77844265	3	1	23	1	0	0	0	0	1	0	0	0	1759	1377	48	2	506	2	C14orf174	14	77844265	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	294	77844265	29505275	3398	19854										
C14orf174	161394	hgsc.bcm.edu	37	chr14	77844592	77844592	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtctagtgaggaggcaggTctagagcctccagaagagac	14	8	2	4	rs10133824	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77844592T>A	ENST00000216471.4	+	1	1117	c.831T>A	c.(829-831)ggT>ggA	p.G277G	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	277										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGAGGCAGGTCTAGAGCCTC	0.502													T|||	760	0.151757	0.0968	0.2666	5008	,	,		18706	0.0159		0.2038	False		,,,				2504	0.2311				p.G277G		Atlas-SNP	.											.	SAMD15	60	.	0			c.T831A						PASS	.	T		558,3848	242.1+/-252.3	32,494,1677	67	71	70		831	-0.7	0	14	dbSNP_119	70	1685,6915	300.8+/-305.1	182,1321,2797	no	coding-synonymous	SAMD15	NM_001010860.1		214,1815,4474	AA,AT,TT		19.593,12.6645,17.2459		277/675	77844592	2243,10763	2203	4300	6503	SO:0001819	synonymous_variant	161394	exon1			GGCAGGTCTAGAG	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.831T>A	14.37:g.77844592T>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	51	27	0.529412	NM_001010860	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																			T|0.848;A|0.152	0.152	strong		0.502	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		A	77844592	T	A	77844592	2	1	23	1	0	0	0	0	0	0	0	1	1759	1654	58	5		5	C14orf174	14	77844592	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	327	77844592	29504948	3399	19855										
ISM2	145501	hgsc.bcm.edu	37	chr14	77942316	77942316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagctgcggccctggtgctcGtcctgtaggctcacagggct	14	13	1	0	rs3742732	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:77942316G>A	ENST00000342219.4	-	7	1394	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.D365D|ISM2_ENST00000393684.3_Silent_p.D358D|ISM2_ENST00000412904.1_Silent_p.D365D	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	446	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTGGTGCTCGTCCTGTAGGC	0.652													G|||	322	0.0642971	0.0363	0.1571	5008	,	,		17437	0.0149		0.0765	False		,,,				2504	0.0746				p.D446D		Atlas-SNP	.											.	ISM2	68	.	0			c.C1338T						PASS	.	G	,	210,4196	127.8+/-164.7	6,198,1999	36	38	37		,1338	-3	0.3	14	dbSNP_107	37	775,7825	179.2+/-228.4	32,711,3557	no	utr-3,coding-synonymous	ISM2	NM_182509.3,NM_199296.2	,	38,909,5556	AA,AG,GG		9.0116,4.7662,7.5734	,	,446/572	77942316	985,12021	2203	4300	6503	SO:0001819	synonymous_variant	145501	exon7			GTGCTCGTCCTGT	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1338C>T	14.37:g.77942316G>A		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	14	7	0.5	NM_199296	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																			G|0.930;A|0.070	0.070	strong		0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77942316	G	A	77942316	2	1	23	1	0	0	0	0	0	0	0	1	7861	1136	40	1		1	ISM2	14	77942316	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	97724	77942316	29407224	3400	19856										
ADCK1	57143	hgsc.bcm.edu	37	chr14	78399654	78399654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagatcaacctccatgagCtcatcctgcgtgtgaagggg	13	11	2	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:78399654C>T	ENST00000238561.5	+	11	1591	c.1492C>T	c.(1492-1494)Ctc>Ttc	p.L498F	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.L430F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	505						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTCCATGAGCTCATCCTGCG	0.517																																					p.L498F		Atlas-SNP	.											.	ADCK1	81	.	0			c.C1492T						PASS	.						130	122	124					14																	78399654		2203	4300	6503	SO:0001583	missense	57143	exon11			CATGAGCTCATCC	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1492C>T	14.37:g.78399654C>T	ENSP00000238561:p.Leu498Phe	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	268	122	0.455224	NM_020421	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812185	0.16537	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68479	-0.33;1.07	5.58	4.66	0.58398	.	0.194806	0.45126	N	0.000398	T	0.58104	0.2099	L	0.50333	1.59	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12837	0.003;0.008;0.007	T	0.52555	-0.8560	10	0.23302	T	0.38	-20.9933	10.9445	0.47294	0.0:0.9076:0.0:0.0924	.	505;430;498	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	F	498;430	ENSP00000238561:L498F;ENSP00000339663:L430F	ENSP00000238561:L498F	L	+	1	0	ADCK1	77469407	1.000000	0.71417	0.458000	0.27068	0.072000	0.16883	2.926000	0.48892	1.298000	0.44778	0.655000	0.94253	CTC	.	.	none		0.517	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		T	78399654	C	T	78399654	3	4	23	1	0	0	0	0	1	0	0	0	288	797	28	2	1530	2	ADCK1	14	78399654	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	457338	78399654	28949886	3401	19857										
C14orf145	145508	hgsc.bcm.edu	37	chr14	80971261	80971261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttcattacttacagttcaCgtatgaaaatcttggactag	6	8	3	1	rs61744330	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:80971261C>T	ENST00000555265.1	-	24	3550	c.3175G>A	c.(3175-3177)Gtg>Atg	p.V1059M	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.V1059M			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1059						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTACAGTTCACGTATGAAAAT	0.383													T|||	316	0.063099	0.1694	0.0331	5008	,	,		16414	0.002		0.0517	False		,,,				2504	0.0153				p.V1059M		Atlas-SNP	.											.	CEP128	146	.	0			c.G3175A						PASS	.	T	MET/VAL	650,3756	763.6+/-413.2	49,552,1602	54	53	53		3175	1.6	1	14	dbSNP_129	53	412,8188	799.5+/-407.4	10,392,3898	yes	missense	CEP128	NM_152446.3	21	59,944,5500	TT,TC,CC		4.7907,14.7526,8.1655	benign	1059/1095	80971261	1062,11944	2203	4300	6503	SO:0001583	missense	145508	exon23			AGTTCACGTATGA	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3175G>A	14.37:g.80971261C>T	ENSP00000451162:p.Val1059Met	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	62	20	0.322581	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	127|127	0.05815018315018315|0.05815018315018315	83|83	0.16869918699186992|0.16869918699186992	9|9	0.024861878453038673|0.024861878453038673	0|0	0.0|0.0	35|35	0.04617414248021108|0.04617414248021108	T|T	9.323|9.323	1.058656|1.058656	0.19987|0.19987	0.147526|0.147526	0.047907|0.047907	ENSG00000100629|ENSG00000100629	ENST00000556061|ENST00000281129;ENST00000555265	.|T;T	.|0.30981	.|1.51;1.51	5.32|5.32	1.57|1.57	0.23409|0.23409	.|.	.|0.274634	.|0.23298	.|N	.|0.049715	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.08118|0.08118	0|0	0.09310|0.09310	P|P	0.99999898117|0.99999898117	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.24728|0.24728	-1.0152|-1.0152	4|9	.|0.31617	.|T	.|0.26	.|.	5.2564|5.2564	0.15550|0.15550	0.4005:0.2996:0.0:0.2998|0.4005:0.2996:0.0:0.2998	rs61744330|rs61744330	.|1059	.|Q6ZU80	.|CE128_HUMAN	H|M	124|1059	.|ENSP00000281129:V1059M;ENSP00000451162:V1059M	.|ENSP00000281129:V1059M	R|V	-|-	2|1	0|0	CEP128|CEP128	80041014|80041014	0.917000|0.917000	0.31117|0.31117	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	-0.038000|-0.038000	0.12144|0.12144	0.461000|0.461000	0.27071|0.27071	-1.493000|-1.493000	0.00968|0.00968	CGT|GTG	C|0.923;T|0.077	0.077	strong		0.383	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		T	80971261	C	T	80971261	3	4	23	1	0	0	0	0	1	0	0	0	1749	536	19	1	117	1	C14orf145	14	80971261	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2571607	80971261	26378279	3402	19858										
C14orf145	145508	hgsc.bcm.edu	37	chr14	81259254	81259254	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctccgcctcctctttcagAgcctctgactgctggagctc	8	16	4	2	rs45535733	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:81259254A>T	ENST00000555265.1	-	14	1785	c.1410T>A	c.(1408-1410)gcT>gcA	p.A470A	CEP128_ENST00000281129.3_Silent_p.A470A			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	470						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTCTTTCAGAGCCTCTGACT	0.522													A|||	149	0.0297524	0.0015	0.0346	5008	,	,		18624	0.0288		0.0696	False		,,,				2504	0.0245				p.A470A		Atlas-SNP	.											.	CEP128	146	.	0			c.T1410A						PASS	.	A		46,4360	48.2+/-83.0	0,46,2157	155	139	145		1410	1.6	1	14	dbSNP_127	145	603,7997	158.6+/-212.1	18,567,3715	no	coding-synonymous	CEP128	NM_152446.3		18,613,5872	TT,TA,AA		7.0116,1.044,4.99		470/1095	81259254	649,12357	2203	4300	6503	SO:0001819	synonymous_variant	145508	exon13			TTTCAGAGCCTCT	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1410T>A	14.37:g.81259254A>T		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	315	179	0.568254	NM_152446	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																			A|0.960;T|0.040	0.040	strong		0.522	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		T	81259254	A	T	81259254	2	4	23	1	0	0	0	0	0	0	0	1	1749	291	11	5		5	C14orf145	14	81259254	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	287993	81259254	26090286	3403	19859										
GTF2A1	2957	hgsc.bcm.edu	37	chr14	81662494	81662494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actccaccaggctgcatttgTggtataacctgttgttgtag	10	9	0	0	rs34999597	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:81662494T>C	ENST00000553612.1	-	6	973	c.570A>G	c.(568-570)ccA>ccG	p.P190P	GTF2A1_ENST00000434192.2_Silent_p.P151P	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	190					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GCTGCATTTGTGGTATAACCT	0.428													T|||	5	0.000998403	0.0	0.0	5008	,	,		18335	0.0		0.002	False		,,,				2504	0.0031				p.P190P		Atlas-SNP	.											.	GTF2A1	34	.	0			c.A570G						PASS	.	T	,	2,4404	4.2+/-10.8	0,2,2201	180	162	168		570,453	4.2	1	14	dbSNP_126	168	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous,coding-synonymous	GTF2A1	NM_015859.2,NM_201595.1	,	0,27,6476	CC,CT,TT		0.2907,0.0454,0.2076	,	190/377,151/338	81662494	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	2957	exon6			CATTTGTGGTATA	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.570A>G	14.37:g.81662494T>C		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	212	107	0.504717	NM_015859	Q3KNQ9	Silent	SNP	ENST00000553612.1	37	CCDS9873.1																																																																																			T|0.998;C|0.002	0.002	strong		0.428	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		C	81662494	T	C	81662494	2	2	23	1	0	0	0	0	0	0	0	1	6852	1683	59	2		2	GTF2A1	14	81662494	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	403240	81662494	25687046	3404	19860										
GTF2A1	2957	hgsc.bcm.edu	37	chr14	81686832	81686832	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaccgaaccacgtccttaCcacggtgtttgtatttgccg	9	14	0	0	rs201410281		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:81686832C>G	ENST00000553612.1	-	1	434		c.e1+1		GTF2A1_ENST00000434192.2_Intron	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CACGTCCTTACCACGGTGTTT	0.577																																					.		Atlas-SNP	.											.	GTF2A1	34	.	0			c.30+1G>C						PASS	.						39	40	40					14																	81686832		2202	4293	6495	SO:0001630	splice_region_variant	2957	exon2			TCCTTACCACGGT	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.30+1G>C	14.37:g.81686832C>G		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	74	21	0.283784	NM_015859	Q3KNQ9	Splice_Site	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205504	0.58234	.	.	ENSG00000165417	ENST00000553612	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2408	0.59995	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF2A1	80756585	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.468000	0.66743	1.400000	0.46741	0.305000	0.20034	.	C|1.000;T|0.000	.	alt		0.577	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859	Intron	G	81686832	C	G	81686832	5	3	23	1	0	0	0	0	0	0	1	0	6852	521	18	4	1135	4	GTF2A1	14	81686832	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24338	81686832	25662708	3405	19861										
STON2	85439	hgsc.bcm.edu	37	chr14	81743565	81743565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctccacctctgccccaTtgacacttgtggccgtcctg	8	18	1	1	rs36017951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:81743565T>C	ENST00000267540.2	-	4	2290	c.2090A>G	c.(2089-2091)aAt>aGt	p.N697S	STON2_ENST00000555447.1_Missense_Mutation_p.N697S|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	697	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTCTGCCCCATTGACACTTGT	0.547													T|||	186	0.0371406	0.0318	0.0173	5008	,	,		20569	0.0407		0.0378	False		,,,				2504	0.0542				p.N697S		Atlas-SNP	.											.	STON2	94	.	0			c.A2090G						PASS	.	T	SER/ASN	147,4259	104.3+/-142.8	2,143,2058	114	113	113		2090	3.4	1	14	dbSNP_126	113	362,8238	120.8+/-180.0	9,344,3947	yes	missense	STON2	NM_033104.2	46	11,487,6005	CC,CT,TT		4.2093,3.3364,3.9136	benign	697/906	81743565	509,12497	2203	4300	6503	SO:0001583	missense	85439	exon6			GCCCCATTGACAC	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2090A>G	14.37:g.81743565T>C	ENSP00000267540:p.Asn697Ser	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	196	66	0.336735	NM_001256430	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	71	0.03250915750915751	11	0.022357723577235773	9	0.024861878453038673	24	0.04195804195804196	27	0.03562005277044855	T	4.448	0.082943	0.08533	0.033364	0.042093	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19394	2.15;2.15	5.84	3.42	0.39159	Clathrin adaptor, mu subunit, C-terminal (3);	0.398828	0.28140	N	0.016443	T	0.02230	0.0069	N	0.12182	0.205	0.29333	N	0.866527	B;B	0.17038	0.02;0.016	B;B	0.19666	0.026;0.015	T	0.21449	-1.0245	10	0.23891	T	0.37	-10.1981	8.4561	0.32899	0.0:0.2217:0.0:0.7783	rs36017951	697;697	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	697;709;697	ENSP00000450857:N697S;ENSP00000267540:N697S	ENSP00000267540:N697S	N	-	2	0	STON2	80813318	0.976000	0.34144	0.963000	0.40424	0.393000	0.30537	1.389000	0.34453	0.438000	0.26450	0.528000	0.53228	AAT	T|0.961;C|0.039	0.039	strong		0.547	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		C	81743565	T	C	81743565	3	2	23	1	0	0	0	0	1	0	0	0	15317	1493	52	2	633	2	STON2	14	81743565	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	56733	81743565	25605975	3406	19862										
STON2	85439	hgsc.bcm.edu	37	chr14	81743718	81743718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catccacacacccatggaaaCggcactcatggagcttgatc	8	14	1	1	rs34323725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:81743718C>T	ENST00000267540.2	-	4	2137	c.1937G>A	c.(1936-1938)cGt>cAt	p.R646H	STON2_ENST00000555447.1_Missense_Mutation_p.R646H|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	646	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.		R -> H (in dbSNP:rs34323725).		hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCCATGGAAACGGCACTCATG	0.507													C|||	344	0.0686901	0.1165	0.0476	5008	,	,		23494	0.006		0.0944	False		,,,				2504	0.0573				p.R646H		Atlas-SNP	.											.	STON2	94	.	0			c.G1937A						PASS	.	C	HIS/ARG	523,3883	236.8+/-248.8	35,453,1715	74	60	65		1937	0.2	0.3	14	dbSNP_126	65	894,7706	200.0+/-243.9	46,802,3452	yes	missense	STON2	NM_033104.2	29	81,1255,5167	TT,TC,CC		10.3953,11.8702,10.895	benign	646/906	81743718	1417,11589	2203	4300	6503	SO:0001583	missense	85439	exon6			TGGAAACGGCACT	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1937G>A	14.37:g.81743718C>T	ENSP00000267540:p.Arg646His	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	179	122	0.681564	NM_001256430	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	162	0.07417582417582418	74	0.15040650406504066	18	0.049723756906077346	4	0.006993006993006993	66	0.0870712401055409	C	0.256	-1.002835	0.02128	0.118702	0.103953	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19250	2.16;2.16	6.16	0.185	0.15096	Clathrin adaptor, mu subunit, C-terminal (3);	0.281600	0.35096	N	0.003451	T	0.00039	0.0001	N	0.21194	0.64	0.46260	P	0.001044000000000045	B;B	0.25235	0.121;0.099	B;B	0.19391	0.025;0.014	T	0.39860	-0.9593	9	0.09590	T	0.72	-0.3178	7.1263	0.25473	0.1001:0.5351:0.0:0.3648	rs34323725	646;646	Q8WXE9;G3V2T7	STON2_HUMAN;.	H	646;658;646	ENSP00000450857:R646H;ENSP00000267540:R646H	ENSP00000267540:R646H	R	-	2	0	STON2	80813471	0.000000	0.05858	0.344000	0.25628	0.488000	0.33401	-0.822000	0.04448	-0.008000	0.14320	0.650000	0.86243	CGT	C|0.900;T|0.100	0.100	strong		0.507	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		T	81743718	C	T	81743718	3	4	23	1	0	0	0	0	1	0	0	0	15317	536	19	1	786	1	STON2	14	81743718	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	153	81743718	25605822	3407	19863										
FLRT2	23768	hgsc.bcm.edu	37	chr14	86088573	86088573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaaggaattttcaattgtaCgtaattcgctgtcccaccct	6	11	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:86088573C>T	ENST00000330753.4	+	2	1482	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	FLRT2_ENST00000554746.1_Missense_Mutation_p.R239C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	239					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCAATTGTACGTAATTCGCT	0.512																																					p.R239C		Atlas-SNP	.											FLRT2,NS,carcinoma,0,1	FLRT2	168	1	0			c.C715T						scavenged	.						86	85	85					14																	86088573		2203	4300	6503	SO:0001583	missense	23768	exon2			ATTGTACGTAATT	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.715C>T	14.37:g.86088573C>T	ENSP00000332879:p.Arg239Cys	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	199	2	0.0100503	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752457	0.49362	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57907	0.37;0.37	5.78	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65018	-0.6270	10	0.42905	T	0.14	-16.9625	14.4373	0.67290	0.2907:0.7093:0.0:0.0	.	239	O43155	FLRT2_HUMAN	C	239	ENSP00000332879:R239C;ENSP00000451050:R239C	ENSP00000332879:R239C	R	+	1	0	FLRT2	85158326	0.994000	0.37717	0.692000	0.30179	0.564000	0.35744	3.215000	0.51169	1.359000	0.45940	0.650000	0.86243	CGT	.	.	none		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86088573	C	T	86088573	3	4	23	1	0	0	0	0	1	0	0	0	5939	536	19	1	717	1	FLRT2	14	86088573	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4344855	86088573	21260967	3408	19864										
KCNK10	54207	hgsc.bcm.edu	37	chr14	88652389	88652389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatgctgcggatggtggcCgcccgctgcagcttatcgtg	14	13	0	0	rs3742692	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:88652389C>T	ENST00000340700.5	-	7	1558	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	KCNK10_ENST00000319231.5_Silent_p.A374A|KCNK10_ENST00000312350.5_Silent_p.A374A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	369					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGATGGTGGCCGCCCGCTGCA	0.667													C|||	1091	0.217851	0.028	0.1614	5008	,	,		15139	0.3681		0.2744	False		,,,				2504	0.3016				p.A374A		Atlas-SNP	.											KCNK10_ENST00000319231,NS,carcinoma,0,3	KCNK10	273	3	0			c.G1122A						PASS	.	C	,,	294,4094		19,256,1919	26	25	26		1107,1122,1122	-7.6	0.3	14	dbSNP_107	26	2384,6188		363,1658,2265	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	382,1914,4184	TT,TC,CC		27.8115,6.7001,20.6636	,,	369/539,374/544,374/544	88652389	2678,10282	2194	4286	6480	SO:0001819	synonymous_variant	54207	exon7			GGTGGCCGCCCGC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1107G>A	14.37:g.88652389C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																			C|0.786;T|0.214	0.214	strong		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652389	C	T	88652389	2	4	23	1	0	0	0	0	0	0	0	1	8059	639	23	1		1	KCNK10	14	88652389	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2563816	88652389	18697151	3409	19865										
KCNK10	54207	hgsc.bcm.edu	37	chr14	88693725	88693725	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacacagtactcactcgaaaGaccttctccactcttgcaat	5	14	3	1	rs2277524	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:88693725G>C	ENST00000340700.5	-	4	1111	c.660C>G	c.(658-660)gtC>gtG	p.V220V	KCNK10_ENST00000319231.5_Silent_p.V225V|KCNK10_ENST00000312350.5_Silent_p.V225V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	220					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCACTCGAAAGACCTTCTCCA	0.448													G|||	1713	0.342053	0.4501	0.2032	5008	,	,		18025	0.4405		0.2187	False		,,,				2504	0.32				p.V225V		Atlas-SNP	.											.	KCNK10	273	.	0			c.C675G						PASS	.	G	,,	1783,2623	526.8+/-372.0	353,1077,773	118	114	115		660,675,675	3.3	1	14	dbSNP_100	115	2049,6551	356.4+/-330.3	254,1541,2505	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	607,2618,3278	CC,CG,GG		23.8256,40.4675,29.4633	,,	220/539,225/544,225/544	88693725	3832,9174	2203	4300	6503	SO:0001819	synonymous_variant	54207	exon4			TCGAAAGACCTTC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.660C>G	14.37:g.88693725G>C		Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	105	105	1	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																			G|0.690;C|0.310	0.310	strong		0.448	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88693725	G	C	88693725	2	2	23	1	0	0	0	0	0	0	0	1	8059	929	33	4		4	KCNK10	14	88693725	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41336	88693725	18655815	3410	19866										
PTPN21	11099	hgsc.bcm.edu	37	chr14	88946343	88946343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgtaggcgtacgagctgcCgatgttgaggtttcgcagcg	16	9	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:88946343C>T	ENST00000556564.1	-	13	1716	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S	PTPN21_ENST00000328736.3_Missense_Mutation_p.G478S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	478					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TACGAGCTGCCGATGTTGAGG	0.667																																					p.G478S		Atlas-SNP	.											.	PTPN21	113	.	0			c.G1432A						PASS	.						36	37	37					14																	88946343		2203	4300	6503	SO:0001583	missense	11099	exon13			AGCTGCCGATGTT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1432G>A	14.37:g.88946343C>T	ENSP00000452414:p.Gly478Ser	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	49	4	0.0816327	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502634	0.44455	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72051	-0.62;-0.62	5.38	4.48	0.54585	.	0.111045	0.64402	D	0.000007	T	0.50000	0.1590	L	0.27053	0.805	0.47621	D	0.999473	P	0.41214	0.742	B	0.31946	0.138	T	0.49428	-0.8941	10	0.21014	T	0.42	.	10.7907	0.46432	0.0:0.8548:0.0:0.1452	.	478	Q16825	PTN21_HUMAN	S	478	ENSP00000330276:G478S;ENSP00000452414:G478S	ENSP00000330276:G478S	G	-	1	0	PTPN21	88016096	0.997000	0.39634	0.667000	0.29798	0.960000	0.62799	3.056000	0.49923	2.528000	0.85240	0.561000	0.74099	GGC	.	.	none		0.667	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88946343	C	T	88946343	3	4	23	1	0	0	0	0	1	0	0	0	12786	652	23	1	2120	1	PTPN21	14	88946343	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	252618	88946343	18403197	3411	19867										
EML5	161436	hgsc.bcm.edu	37	chr14	89151392	89151392	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttattgggccacttttatcCacttctagtatttcaccatt	5	10	2	0	rs17204164	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:89151392C>A	ENST00000380664.5	-	20	2948	c.2949G>T	c.(2947-2949)gtG>gtT	p.V983V	EML5_ENST00000554922.1_Silent_p.V983V|EML5_ENST00000352093.5_Silent_p.V945V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	983						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACTTTTATCCACTTCTAGTA	0.318													C|||	134	0.0267572	0.003	0.0259	5008	,	,		15603	0.0		0.0755	False		,,,				2504	0.0368				p.V983V		Atlas-SNP	.											.	EML5	141	.	0			c.G2949T						PASS	.	C		62,3594		3,56,1769	164	149	154		2949	3.1	1	14	dbSNP_123	154	659,7495		31,597,3449	no	coding-synonymous	EML5	NM_183387.2		34,653,5218	AA,AC,CC		8.0819,1.6958,6.105		983/1978	89151392	721,11089	1828	4077	5905	SO:0001819	synonymous_variant	161436	exon20			TTTATCCACTTCT	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2949G>T	14.37:g.89151392C>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	200	61	0.305	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																			C|0.962;A|0.038	0.038	strong		0.318	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89151392	C	A	89151392	2	1	23	1	0	0	0	0	0	0	0	1	5100	581	21	4		4	EML5	14	89151392	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	205049	89151392	18198148	3412	19868										
TDP1	55775	hgsc.bcm.edu	37	chr14	90458308	90458308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agacagctgaaaaacagaatTggctgcattcctattttcag	8	8	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:90458308T>C	ENST00000335725.4	+	13	1664	c.1414T>C	c.(1414-1416)Tgg>Cgg	p.W472R	TDP1_ENST00000393454.2_Missense_Mutation_p.W472R|TDP1_ENST00000357382.3_Missense_Mutation_p.W233R|TDP1_ENST00000393452.3_Missense_Mutation_p.W472R|TDP1_ENST00000555880.1_Missense_Mutation_p.W472R	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	472					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)		AAAACAGAATTGGCTGCATTC	0.318								Repair of DNA-protein crosslinks																													p.W472R		Atlas-SNP	.											.	TDP1	47	.	0			c.T1414C						PASS	.						120	124	123					14																	90458308		2203	4299	6502	SO:0001583	missense	55775	exon13			CAGAATTGGCTGC	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.1414T>C	14.37:g.90458308T>C	ENSP00000337353:p.Trp472Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	15	0.168539	NM_018319	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.69|17.69	3.452357|3.452357	0.63290|0.63290	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000556063|ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	.|T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91	5.94|5.94	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68842|0.68842	0.3045|0.3045	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D	.|0.91635	.|0.998;0.998;0.999;0.99;0.999	T|T	0.73789|0.73789	-0.3872|-0.3872	5|10	.|0.66056	.|D	.|0.02	-23.862|-23.862	11.4452|11.4452	0.50118|0.50118	0.1353:0.0:0.0:0.8647|0.1353:0.0:0.0:0.8647	.|.	.|472;472;472;233;472	.|G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.|.;.;.;.;TYDP1_HUMAN	S|R	112|472;472;472;233;472	.|ENSP00000377098:W472R;ENSP00000377099:W472R;ENSP00000337353:W472R;ENSP00000349952:W233R;ENSP00000450628:W472R	.|ENSP00000337353:W472R	L|W	+|+	2|1	0|0	TDP1|TDP1	89528061|89528061	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.998000|0.998000	0.95712|0.95712	6.735000|6.735000	0.74806|0.74806	1.015000|1.015000	0.39444|0.39444	0.459000|0.459000	0.35465|0.35465	TTG|TGG	.	.	none		0.318	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		C	90458308	T	C	90458308	3	2	23	1	0	0	0	0	1	0	0	0	15725	1812	63	2	1456	2	TDP1	14	90458308	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1306916	90458308	16891232	3413	19869										
CATSPERB	79820	hgsc.bcm.edu	37	chr14	92159558	92159558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaaaaaatgattcgttaaaAccatatccaccaatgaaagg	5	8	0	2	rs72629402	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:92159558A>G	ENST00000256343.3	-	9	899	c.743T>C	c.(742-744)gTt>gCt	p.V248A		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	248					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATTCGTTAAAACCATATCCAC	0.348													A|||	281	0.0561102	0.0113	0.0331	5008	,	,		19365	0.1409		0.0408	False		,,,				2504	0.0613				p.V248A		Atlas-SNP	.											.	CATSPERB	114	.	0			c.T743C						PASS	.	A	ALA/VAL	97,4309	79.3+/-117.8	2,93,2108	118	114	116		743	3.5	1	14	dbSNP_130	116	429,8171	131.7+/-189.4	16,397,3887	yes	missense	CATSPERB	NM_024764.2	64	18,490,5995	GG,GA,AA		4.9884,2.2015,4.0443	benign	248/1117	92159558	526,12480	2203	4300	6503	SO:0001583	missense	79820	exon9			GTTAAAACCATAT	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.743T>C	14.37:g.92159558A>G	ENSP00000256343:p.Val248Ala	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	155	89	0.574194	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	109	0.04990842490842491	5	0.01016260162601626	12	0.03314917127071823	69	0.12062937062937062	23	0.030343007915567283	A	14.02	2.411923	0.42817	0.022015	0.049884	ENSG00000133962	ENST00000256343	T	0.52754	0.65	5.88	3.48	0.39840	.	0.251868	0.28198	N	0.016227	T	0.00608	0.0020	L	0.55481	1.735	0.27884	N	0.939579	B	0.23249	0.082	B	0.25140	0.058	T	0.02705	-1.1121	10	0.25106	T	0.35	-24.0534	8.6627	0.34101	0.8457:0.0:0.1543:0.0	.	248	Q9H7T0	CTSRB_HUMAN	A	248	ENSP00000256343:V248A	ENSP00000256343:V248A	V	-	2	0	CATSPERB	91229311	0.999000	0.42202	1.000000	0.80357	0.697000	0.40408	3.255000	0.51484	0.464000	0.27142	0.459000	0.35465	GTT	A|0.955;G|0.045	0.045	strong		0.348	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		G	92159558	A	G	92159558	3	3	23	1	0	0	0	0	1	0	0	0	2691	43	2	2	2683	2	CATSPERB	14	92159558	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1701250	92159558	15189982	3414	19870										
ATXN3	4287	hgsc.bcm.edu	37	chr14	92537379	92537379	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctgctgctgctgctgTtgctgcttttgctgctgtct	12	11	1	0	rs12896583		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:92537379T>C	ENST00000532032.1	-	10	900	c.891A>G	c.(889-891)caA>caG	p.Q297Q	ATXN3_ENST00000503767.1_Silent_p.Q282Q|ATXN3_ENST00000545170.1_Silent_p.Q306Q|ATXN3_ENST00000429774.2_Silent_p.Q290Q|ATXN3_ENST00000393287.5_Silent_p.Q297Q|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_Silent_p.Q242Q|ATXN3_ENST00000502250.1_Silent_p.Q118Q			P54252	ATX3_HUMAN	ataxin 3	297	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		gctgctgctgttgctgctttt	0.423																																					p.T136A	Esophageal Squamous(190;752 2094 29897 44875 49530)	Atlas-SNP	.											ATXN3,NS,carcinoma,0,1	ATXN3	46	1	0			c.A406G						PASS	.						46	45	45					14																	92537379		2203	4300	6503	SO:0001819	synonymous_variant	4287	exon6			CTGCTGTTGCTGC	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.891A>G	14.37:g.92537379T>C		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	76	53	0.697368	NM_001164778	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37																																																																																				T|1.000;|0.000	.	strong		0.423	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		C	92537379	T	C	92537379	2	2	23	1	0	0	0	0	0	0	0	1	1213	1725	60	2		2	ATXN3	14	92537379	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	377821	92537379	14812161	3415	19871										
ATXN3	4287	hgsc.bcm.edu	37	chr14	92549586	92549586	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggcagatcacccttaacGacaaatatagaataacctaa	5	10	2	2	rs16999141	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:92549586G>A	ENST00000532032.1	-	7	501	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ATXN3_ENST00000503767.1_Silent_p.V149V|ATXN3_ENST00000545170.1_Silent_p.V164V|ATXN3_ENST00000393287.5_Silent_p.V164V|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_Silent_p.V149V|ATXN3_ENST00000340660.6_Silent_p.V109V|ATXN3_ENST00000502250.1_5'UTR			P54252	ATX3_HUMAN	ataxin 3	164	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V164V(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CACCCTTAACGACAAATATAG	0.368													A|||	2838	0.566693	0.736	0.3905	5008	,	,		16657	0.5565		0.4513	False		,,,				2504	0.592				p.V164V	Esophageal Squamous(190;752 2094 29897 44875 49530)	Atlas-SNP	.											ATXN3,NS,carcinoma,0,1	ATXN3	46	1	1	Substitution - coding silent(1)	stomach(1)	c.C492T						PASS	.	A	,,,,,,,,,,,	2945,1461	470.4+/-355.7	991,963,249	79	76	77		447,339,,,,,129,,282,,492,327	3.1	1	14	dbSNP_123	77	4099,4501	590.9+/-392.8	998,2103,1199	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,coding-synonymous,utr-5,coding-synonymous,intron,coding-synonymous,coding-synonymous	ATXN3	NM_001127696.1,NM_001127697.2,NM_001164774.1,NM_001164776.1,NM_001164777.1,NM_001164778.1,NM_001164779.1,NM_001164780.1,NM_001164781.1,NM_001164782.1,NM_004993.5,NM_030660.4	,,,,,,,,,,,	1989,3066,1448	AA,AG,GG		47.6628,33.1593,45.8404	,,,,,,,,,,,	149/347,113/311,,,,,43/241,,94/292,,164/362,109/307	92549586	7044,5962	2203	4300	6503	SO:0001819	synonymous_variant	4287	exon7			CTTAACGACAAAT	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.492C>T	14.37:g.92549586G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	73	72	0.986301	NM_004993	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Silent	SNP	ENST00000532032.1	37																																																																																				G|0.463;A|0.537	0.537	strong		0.368	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		A	92549586	G	A	92549586	2	1	23	1	0	0	0	0	0	0	0	1	1213	1045	37	1		1	ATXN3	14	92549586	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12207	92549586	14799954	3416	19872										
RIN3	79890	hgsc.bcm.edu	37	chr14	93118198	93118198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgccgcccacctctgatgcCacctcacccacctccaggtg	7	20	2	1	rs3814830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:93118198C>T	ENST00000216487.7	+	6	963	c.804C>T	c.(802-804)gcC>gcT	p.A268A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	268	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTCTGATGCCACCTCACCCA	0.682													T|||	1422	0.283946	0.3389	0.2911	5008	,	,		7197	0.2758		0.169	False		,,,				2504	0.3313				p.A268A		Atlas-SNP	.											.	RIN3	81	.	0			c.C804T						PASS	.	T		1418,2988	685.2+/-404.5	229,960,1014	72	71	71		804	3.4	0.5	14	dbSNP_107	71	1253,7347	760.6+/-407.6	84,1085,3131	no	coding-synonymous	RIN3	NM_024832.3		313,2045,4145	TT,TC,CC		14.5698,32.1834,20.5367		268/986	93118198	2671,10335	2203	4300	6503	SO:0001819	synonymous_variant	79890	exon6			TGATGCCACCTCA	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.804C>T	14.37:g.93118198C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	86	55	0.639535	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																			C|0.764;T|0.236	0.236	strong		0.682	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			T	93118198	C	T	93118198	2	4	23	1	0	0	0	0	0	0	0	1	13373	581	21	2		2	RIN3	14	93118198	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	568612	93118198	14231342	3417	19873										
RIN3	79890	hgsc.bcm.edu	37	chr14	93118668	93118668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagacggccctgaggacaCgccccgggagagcacggagc	15	15	1	3	rs3742717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:93118668C>T	ENST00000216487.7	+	6	1433	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	425	Pro-rich.		T -> I (in dbSNP:rs3742717).|T -> M (in dbSNP:rs3742717). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTGAGGACACGCCCCGGGAG	0.647													C|||	1465	0.292532	0.1755	0.2767	5008	,	,		13345	0.4415		0.1948	False		,,,				2504	0.409				p.T425M		Atlas-SNP	.											RIN3,rectum,carcinoma,-1,1	RIN3	81	1	0			c.C1274T						PASS	.	C	MET/THR	758,3648	305.8+/-289.2	72,614,1517	56	64	61		1274	-0.5	0	14	dbSNP_107	61	1458,7142	277.9+/-293.1	112,1234,2954	yes	missense	RIN3	NM_024832.3	81	184,1848,4471	TT,TC,CC		16.9535,17.2038,17.0383	possibly-damaging	425/986	93118668	2216,10790	2203	4300	6503	SO:0001583	missense	79890	exon6			AGGACACGCCCCG	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1274C>T	14.37:g.93118668C>T	ENSP00000216487:p.Thr425Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	175	113	0.645714	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	601	0.2751831501831502	88	0.17886178861788618	98	0.27071823204419887	250	0.4370629370629371	165	0.21767810026385223	C	2.949	-0.217068	0.06101	0.172038	0.169535	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06142	3.34	3.82	-0.538	0.11868	.	1.010830	0.07976	N	0.984748	T	0.00012	0.0000	N	0.02011	-0.69	0.58432	P	1.999999999946489E-6	B;B;B;B	0.30741	0.293;0.002;0.002;0.106	B;B;B;B	0.20767	0.031;0.001;0.001;0.004	T	0.39663	-0.9603	9	0.48119	T	0.1	-7.5748	2.5115	0.04658	0.101:0.3798:0.2266:0.2926	rs3742717;rs3742717	425;471;350;425	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	M	425;349	ENSP00000216487:T425M	ENSP00000216487:T425M	T	+	2	0	RIN3	92188421	.	.	0.037000	0.18230	0.023000	0.10783	.	.	0.239000	0.21243	-0.657000	0.03884	ACG	C|0.777;T|0.223	0.223	strong		0.647	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			T	93118668	C	T	93118668	3	4	23	1	0	0	0	0	1	0	0	0	13373	536	19	1	1296	1	RIN3	14	93118668	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	470	93118668	14230872	3418	19874										
SERPINA6	866	hgsc.bcm.edu	37	chr14	94772504	94772504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttcctccagcacatctccGaggtcatagactccagagat	7	13	2	2	rs1042394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:94772504G>A	ENST00000341584.3	-	4	1082	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	312					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCACATCTCCGAGGTCATAGA	0.537													G|||	815	0.16274	0.1672	0.1441	5008	,	,		19990	0.0595		0.3002	False		,,,				2504	0.135				p.L312L		Atlas-SNP	.											.	SERPINA6	102	.	0			c.C936T						PASS	.	G		806,3600	322.9+/-297.8	80,646,1477	122	103	110		936	-2.7	0	14	dbSNP_86	110	2320,6280	389.2+/-342.9	359,1602,2339	no	coding-synonymous	SERPINA6	NM_001756.3		439,2248,3816	AA,AG,GG		26.9767,18.2932,24.0351		312/406	94772504	3126,9880	2203	4300	6503	SO:0001819	synonymous_variant	866	exon4			ATCTCCGAGGTCA	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.936C>T	14.37:g.94772504G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	160	106	0.6625	NM_001756	A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	CCDS9924.1																																																																																			G|0.775;A|0.225	0.225	strong		0.537	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		A	94772504	G	A	94772504	2	1	23	1	0	0	0	0	0	0	0	1	14093	1045	37	1		1	SERPINA6	14	94772504	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1653836	94772504	12577036	3419	19875										
SERPINA6	866	hgsc.bcm.edu	37	chr14	94776219	94776219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accagctggcaggggagctcCgagtcatgaaggtaactgat	14	9	1	2	rs2228542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:94776219C>T	ENST00000341584.3	-	3	884	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	246			S -> A (in dbSNP:rs2228541). {ECO:0000269|PubMed:15489334}.		glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGGGGAGCTCCGAGTCATGAA	0.542													C|||	901	0.179912	0.2284	0.1484	5008	,	,		21531	0.0595		0.3012	False		,,,				2504	0.136				p.S246S		Atlas-SNP	.											SERPINA6_ENST00000341584,NS,adenoma,0,1	SERPINA6	102	1	0			c.G738A						scavenged	.	C		1032,3374	380.2+/-323.6	124,784,1295	138	112	121		738	-7.6	0	14	dbSNP_98	121	2335,6265	390.8+/-343.4	363,1609,2328	no	coding-synonymous	SERPINA6	NM_001756.3		487,2393,3623	TT,TC,CC		27.1512,23.4226,25.8881		246/406	94776219	3367,9639	2203	4300	6503	SO:0001819	synonymous_variant	866	exon3			GAGCTCCGAGTCA	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.738G>A	14.37:g.94776219C>T		Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	149	89	0.597315	NM_001756	A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	CCDS9924.1																																																																																			C|0.758;T|0.242	0.242	strong		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		T	94776219	C	T	94776219	2	4	23	1	0	0	0	0	0	0	0	1	14093	639	23	1		1	SERPINA6	14	94776219	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3715	94776219	12573321	3420	19876										
DICER1	23405	hgsc.bcm.edu	37	chr14	95562995	95562997	+	In_Frame_Del	DEL	TCC	TCC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggctctcctcctcctcaTcctcctcctcgtaatcctca					rs544960260		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:95562995_95562997delTCC	ENST00000526495.1	-	25	4551_4553	c.4260_4262delGGA	c.(4258-4263)gaggat>gat	p.E1420del	DICER1_ENST00000527414.1_In_Frame_Del_p.E1420del|DICER1_ENST00000393063.1_In_Frame_Del_p.E1420del|DICER1_ENST00000541352.1_In_Frame_Del_p.E1420del|DICER1_ENST00000343455.3_In_Frame_Del_p.E1420del|DICER1_ENST00000556045.1_In_Frame_Del_p.E318del			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1420					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ctcctcctcatcctcctcctcGT	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.1421_1421del		Pindel	.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	.	DICER1	181	.	0			c.4261_4263del						PASS	.		,,	2,4262		0,2,2130					,,	-8.1	0.8			54	27,8227		0,27,4100	no	coding,coding,coding	DICER1	NM_177438.2,NM_030621.3,NM_001195573.1	,,	0,29,6230	A1A1,A1R,RR		0.3271,0.0469,0.2317	,,	,,		29,12489				SO:0001651	inframe_deletion	23405	exon23	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	.	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4260_4262delGGA	14.37:g.95563001_95563003delTCC	ENSP00000437256:p.Glu1420del	Somatic	156	.	.		WXS	Illumina HiSeq	Phase_I	242	75	0.31	NM_001271282	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	In_Frame_Del	DEL	ENST00000526495.1	37	CCDS9931.1																																																																																			.	.	none		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			-	95562997	TCC	-	95562995	7	5	23	1	0	1	0	1	0	0	0	0	4521	1435	50	0	1526	0	DICER1	14	95562995	In_Frame_Del	DEL	TCC	TCGA-GR-7353-01A-11D-2210-10	786776	95562995	11786545	3421	19877										
AK7	122481	hgsc.bcm.edu	37	chr14	96871104	96871104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttttcaggccatctctcGagaagaccttctcatgcgcc	7	14	4	2	rs2275554	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:96871104G>A	ENST00000267584.4	+	3	349	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	102			R -> Q (in dbSNP:rs2275554). {ECO:0000269|PubMed:14702039}.		axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCATCTCTCGAGAAGACCTT	0.403													G|||	1069	0.213458	0.2269	0.1657	5008	,	,		18454	0.1944		0.2684	False		,,,				2504	0.1922				p.R102Q		Atlas-SNP	.											.	AK7	69	.	0			c.G305A						PASS	.	G	GLN/ARG	1009,3397	376.1+/-321.9	127,755,1321	94	87	89		305	4.5	0.2	14	dbSNP_100	89	2191,6409	372.7+/-336.7	309,1573,2418	yes	missense	AK7	NM_152327.2	43	436,2328,3739	AA,AG,GG		25.4767,22.9006,24.604	benign	102/724	96871104	3200,9806	2203	4300	6503	SO:0001583	missense	122481	exon3			TCTCTCGAGAAGA	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.305G>A	14.37:g.96871104G>A	ENSP00000267584:p.Arg102Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	119	48	0.403361	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	427	0.1955128205128205	87	0.17682926829268292	55	0.15193370165745856	104	0.18181818181818182	181	0.23878627968337732	G	10.47	1.360434	0.24598	0.229006	0.254767	ENSG00000140057	ENST00000267584	T	0.41065	1.01	5.35	4.47	0.54385	.	0.200218	0.41097	N	0.000951	T	0.00012	0.0000	L	0.31476	0.935	0.09310	P	0.9999999999999996	B	0.26547	0.152	B	0.21917	0.037	T	0.18681	-1.0329	9	0.33940	T	0.23	-6.7224	12.998	0.58660	0.0794:0.0:0.9206:0.0	rs2275554;rs59019715;rs2275554	102	Q96M32	KAD7_HUMAN	Q	102	ENSP00000267584:R102Q	ENSP00000267584:R102Q	R	+	2	0	AK7	95940857	1.000000	0.71417	0.190000	0.23270	0.094000	0.18550	3.268000	0.51585	1.270000	0.44297	0.467000	0.42956	CGA	G|0.770;A|0.230	0.230	strong		0.403	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			A	96871104	G	A	96871104	3	1	23	1	0	0	0	0	1	0	0	0	444	1058	37	1	315	1	AK7	14	96871104	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1308109	96871104	10478436	3422	19878										
VRK1	7443	hgsc.bcm.edu	37	chr14	97321689	97321689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatcgatgcacacaatggCgtgggtatgtcagtagtact	12	8	1	0	rs2230532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:97321689C>T	ENST00000216639.3	+	8	854	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CACACAATGGCGTGGGTATGT	0.393													C|||	2087	0.416733	0.1649	0.4928	5008	,	,		19633	0.8442		0.3698	False		,,,				2504	0.3108				p.G235G		Atlas-SNP	.											.	VRK1	34	.	0			c.C705T						PASS	.	C		753,3653	309.1+/-290.9	67,619,1517	116	103	108		705	-6.1	0.6	14	dbSNP_98	108	3022,5578	465.1+/-366.4	560,1902,1838	yes	coding-synonymous	VRK1	NM_003384.2		627,2521,3355	TT,TC,CC		35.1395,17.0903,29.0251		235/397	97321689	3775,9231	2203	4300	6503	SO:0001819	synonymous_variant	7443	exon8			CAATGGCGTGGGT	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.705C>T	14.37:g.97321689C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	114	66	0.578947	NM_003384	Q3SYL2	Silent	SNP	ENST00000216639.3	37	CCDS9947.1	1001	0.4583333333333333	81	0.16463414634146342	159	0.43922651933701656	486	0.8496503496503497	275	0.3627968337730871	C	9.288	1.049864	0.19827	0.170903	0.351395	ENSG00000100749	ENST00000557222;ENST00000557352	.	.	.	6.05	-6.05	0.02172	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11084	-1.0602	3	.	.	.	-22.2293	9.1188	0.36775	0.1465:0.5561:0.0:0.2974	rs2230532;rs11160370;rs11557224;rs57291592;rs2230532	.	.	.	C	92;17	.	.	R	+	1	0	VRK1	96391442	0.127000	0.22367	0.628000	0.29241	0.800000	0.45204	-0.690000	0.05138	-1.420000	0.02009	-0.813000	0.03139	CGT	C|0.650;T|0.350	0.350	strong		0.393	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		T	97321689	C	T	97321689	2	4	23	1	0	0	0	0	0	0	0	1	17216	755	27	1		1	VRK1	14	97321689	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	450585	97321689	10027851	3423	19879										
C14orf177	283598	hgsc.bcm.edu	37	chr14	99182626	99182626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgatcacacgcccatcagTgagccaacttggtgaaggga	12	10	2	3	rs4905757	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:99182626T>C	ENST00000325812.2	+	3	517	c.98T>C	c.(97-99)gTg>gCg	p.V33A		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	33			V -> A (in dbSNP:rs4905757).							endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CGCCCATCAGTGAGCCAACTT	0.567													T|||	105	0.0209665	0.0023	0.0403	5008	,	,		19576	0.001		0.0636	False		,,,				2504	0.0092				p.V33A		Atlas-SNP	.											.	C14orf177	37	.	0			c.T98C						PASS	.	T	ALA/VAL	33,4373	38.4+/-70.7	0,33,2170	140	100	114		98	-0.5	0	14	dbSNP_111	114	463,8137	137.1+/-194.1	18,427,3855	yes	missense	C14orf177	NM_182560.2	64	18,460,6025	CC,CT,TT		5.3837,0.749,3.8136	benign	33/126	99182626	496,12510	2203	4300	6503	SO:0001583	missense	283598	exon3			CATCAGTGAGCCA	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.98T>C	14.37:g.99182626T>C	ENSP00000321360:p.Val33Ala	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	192	98	0.510417	NM_182560	Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	CCDS9948.1	68	0.031135531135531136	2	0.0040650406504065045	14	0.03867403314917127	1	0.0017482517482517483	51	0.06728232189973615	T	5.415	0.261821	0.10239	0.00749	0.053837	ENSG00000176605	ENST00000325812;ENST00000541516	T;T	0.40225	1.12;1.04	2.29	-0.466	0.12153	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P	0.35481	0.504	B	0.42030	0.373	T	0.15350	-1.0440	9	0.87932	D	0	.	6.4055	0.21662	0.0:0.0:0.5236:0.4764	rs4905757;rs17531319;rs4905757	33	Q52M58	CN177_HUMAN	A	33	ENSP00000321360:V33A;ENSP00000440687:V33A	ENSP00000321360:V33A	V	+	2	0	C14orf177	98252379	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.060000	0.11712	-0.100000	0.12241	0.454000	0.30748	GTG	T|0.973;C|0.027	0.027	strong		0.567	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		C	99182626	T	C	99182626	3	2	23	1	0	0	0	0	1	0	0	0	1760	1696	59	2	100	2	C14orf177	14	99182626	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1860937	99182626	8166914	3424	19880										
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100129327	100129327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatcaacaactactacccGtacatcatctccttcgggga	5	15	4	0	rs34890784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:100129327G>A	ENST00000330710.5	+	6	1715	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	HHIPL1_ENST00000357223.2_Silent_p.P539P	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	539					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACTACTACCCGTACATCATCT	0.602													G|||	162	0.0323482	0.0045	0.0346	5008	,	,		20779	0.005		0.0785	False		,,,				2504	0.0491				p.P539P		Atlas-SNP	.											HHIPL1,NS,malignant_melanoma,+2,1	HHIPL1	86	1	0			c.G1617A						PASS	.	G	,	74,4332	65.3+/-102.7	2,70,2131	110	91	98		1617,1617	-9.8	0.3	14	dbSNP_126	98	741,7859	178.9+/-228.2	33,675,3592	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	35,745,5723	AA,AG,GG		8.6163,1.6795,6.2663	,	539/783,539/609	100129327	815,12191	2203	4300	6503	SO:0001819	synonymous_variant	84439	exon6			CTACCCGTACATC	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1617G>A	14.37:g.100129327G>A		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	249	172	0.690763	NM_032425	A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	CCDS45162.1																																																																																			G|0.944;A|0.056	0.056	strong		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		A	100129327	G	A	100129327	2	1	23	1	0	0	0	0	0	0	0	1	7093	1132	40	1		1	HHIPL1	14	100129327	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	946701	100129327	7220213	3425	19881										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102508056	102508056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccgctcgacctgacccaCattgtgggcacagaggtaat	11	13	0	2	rs10129889	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102508056C>A	ENST00000360184.4	+	65	12251	c.12087C>A	c.(12085-12087)caC>caA	p.H4029Q	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4029	AAA 6. {ECO:0000250}.		H -> Q (in dbSNP:rs10129889). {ECO:0000269|PubMed:9205841, ECO:0000269|Ref.4}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCTGACCCACATTGTGGGCA	0.602													C|||	496	0.0990415	0.2784	0.0519	5008	,	,		19868	0.002		0.0696	False		,,,				2504	0.0204				p.H4029Q		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.C12087A						PASS	.	C	GLN/HIS	1199,3207	418.7+/-338.4	164,871,1168	59	61	60		12087	4.6	1	14	dbSNP_119	60	534,8066	148.8+/-204.0	20,494,3786	yes	missense	DYNC1H1	NM_001376.4	24	184,1365,4954	AA,AC,CC		6.2093,27.2129,13.3246	benign	4029/4647	102508056	1733,11273	2203	4300	6503	SO:0001583	missense	1778	exon65			GACCCACATTGTG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12087C>A	14.37:g.102508056C>A	ENSP00000348965:p.His4029Gln	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	143	48	0.335664	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	203	0.09294871794871795	138	0.2804878048780488	20	0.055248618784530384	0	0.0	45	0.059366754617414245	C	7.360	0.624576	0.14193	0.272129	0.062093	ENSG00000197102	ENST00000360184	T	0.07908	3.15	5.61	4.59	0.56863	Dynein heavy chain (1);	0.094690	0.64402	D	0.000001	T	0.00012	0.0000	N	0.03154	-0.405	0.22112	P	0.999354976	B	0.06786	0.001	B	0.04013	0.001	T	0.48570	-0.9024	9	0.18710	T	0.47	.	8.1177	0.30953	0.0:0.7299:0.0:0.2701	rs10129889;rs17292699;rs17292706;rs17541554;rs57501843;rs10129889	4029	Q14204	DYHC1_HUMAN	Q	4029	ENSP00000348965:H4029Q	ENSP00000348965:H4029Q	H	+	3	2	DYNC1H1	101577809	0.995000	0.38212	0.984000	0.44739	0.984000	0.73092	0.450000	0.21762	1.256000	0.44068	0.655000	0.94253	CAC	C|0.882;A|0.118	0.118	strong		0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102508056	C	A	102508056	3	1	23	1	0	0	0	0	1	0	0	0	4841	477	17	4	12345	4	DYNC1H1	14	102508056	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2378729	102508056	4841484	3426	19882										
WDR20	91833	hgsc.bcm.edu	37	chr14	102675350	102675350	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtacatcgtgacaggtggGgaggacgacttggtgacagt	16	6	0	2	rs6575900	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102675350G>C	ENST00000342702.3	+	3	874	c.843G>C	c.(841-843)ggG>ggC	p.G281G	WDR20_ENST00000335263.5_Silent_p.G281G|WDR20_ENST00000545563.1_Silent_p.G108G|WDR20_ENST00000424963.2_Silent_p.G157G|WDR20_ENST00000499851.2_Silent_p.G24G|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.G220G|WDR20_ENST00000556511.2_Silent_p.G220G|WDR20_ENST00000454394.2_Silent_p.G312G	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	281										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGACAGGTGGGGAGGACGACT	0.552													C|||	1722	0.34385	0.761	0.2133	5008	,	,		18621	0.0724		0.2078	False		,,,				2504	0.2924				p.G312G		Atlas-SNP	.											.	WDR20	35	.	0			c.G936C						PASS	.	C	,,,,,,,	3010,1396	460.2+/-352.5	1036,938,229	89	66	74		,,660,936,879,843,843,660	-11.7	0	14	dbSNP_116	74	1761,6839	734.8+/-406.9	171,1419,2710	no	utr-3,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR20	NM_001242414.1,NM_001242415.1,NM_001242416.1,NM_001242417.1,NM_001242418.1,NM_144574.3,NM_181291.2,NM_181308.2	,,,,,,,	1207,2357,2939	CC,CG,GG		20.4767,31.6841,36.6831	,,,,,,,	,,220/521,312/601,293/582,281/570,281/582,220/509	102675350	4771,8235	2203	4300	6503	SO:0001819	synonymous_variant	91833	exon4			AGGTGGGGAGGAC	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.843G>C	14.37:g.102675350G>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	167	59	0.353293	NM_001242417	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	CCDS9969.1	647	0.29624542124542125	372	0.7560975609756098	92	0.2541436464088398	40	0.06993006993006994	143	0.18865435356200527	C	1.987	-0.432810	0.04669	0.683159	0.204767	ENSG00000140153	ENST00000556511	.	.	.	5.83	-11.7	0.00046	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.11470	-1.0586	4	.	.	.	.	11.658	0.51330	0.2768:0.5269:0.1962:0.0	rs6575900;rs6575900	.	.	.	R	212	.	.	G	+	1	0	WDR20	101745103	0.000000	0.05858	0.017000	0.16124	0.929000	0.56500	-2.301000	0.01137	-2.971000	0.00286	-2.098000	0.00363	GGA	G|0.664;C|0.336	0.336	strong		0.552	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		C	102675350	G	C	102675350	2	2	23	1	0	0	0	0	0	0	0	1	17277	1219	43	4		4	WDR20	14	102675350	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	167294	102675350	4674190	3427	19883										
RAGE	5891	hgsc.bcm.edu	37	chr14	102695693	102695693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcaggcttaaggtccttcTgcggatctgtctgtcaaaga	13	9	4	1	rs2236493	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102695693T>C	ENST00000361847.2	-	12	1424	c.1193A>G	c.(1192-1194)cAg>cGg	p.Q398R	MOK_ENST00000522874.1_Missense_Mutation_p.Q397R|MOK_ENST00000519058.1_Silent_p.A122A|MOK_ENST00000522867.1_Silent_p.A92A|MOK_ENST00000524370.1_Silent_p.A92A|MOK_ENST00000517966.1_Silent_p.A92A|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.Q368R|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_Silent_p.A92A|MOK_ENST00000522534.1_Silent_p.A122A|MOK_ENST00000193029.6_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	398			Q -> R (in dbSNP:rs2236493). {ECO:0000269|PubMed:17344846}.		protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q398R(1)									AAGGTCCTTCTGCGGATCTGT	0.577													C|||	1499	0.299321	0.5817	0.1729	5008	,	,		16698	0.1429		0.1958	False		,,,				2504	0.2751				p.Q398R		Atlas-SNP	.											RAGE,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.A1193G						PASS	.	C	ARG/GLN	2218,2188	587.6+/-386.7	582,1054,567	59	59	59		1193	1.7	0	14	dbSNP_98	59	1705,6895	738.0+/-407.0	154,1397,2749	yes	missense	MOK	NM_014226.1	43	736,2451,3316	CC,CT,TT		19.8256,49.6596,30.163	benign	398/420	102695693	3923,9083	2203	4300	6503	SO:0001583	missense	5891	exon12			TCCTTCTGCGGAT	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1193A>G	14.37:g.102695693T>C	ENSP00000355304:p.Gln398Arg	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	117	37	0.316239	NM_014226	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	569	0.26053113553113555	278	0.5650406504065041	76	0.20994475138121546	82	0.14335664335664336	133	0.17546174142480211	C	0.030	-1.343368	0.01277	0.503404	0.198256	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.76186	-0.45;-0.51;-1.0	5.37	1.66	0.24008	.	0.461500	0.21486	N	0.073744	T	0.00012	0.0000	L	0.50333	1.59	0.09310	P	0.99999611406	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44128	-0.9348	9	0.06365	T	0.9	-22.8097	9.4719	0.38847	0.0:0.2379:0.0:0.7621	rs2236493;rs52809368;rs58401053;rs2236493	368;398	E7ERR8;Q9UQ07	.;MOK_HUMAN	R	397;398;368	ENSP00000429469:Q397R;ENSP00000355304:Q398R;ENSP00000428942:Q368R	ENSP00000355304:Q398R	Q	-	2	0	RAGE	101765446	1.000000	0.71417	0.027000	0.17364	0.002000	0.02628	0.935000	0.28924	-0.193000	0.10415	-1.163000	0.01768	CAG	T|0.713;C|0.287	0.287	strong		0.577	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			C	102695693	T	C	102695693	3	2	23	1	0	0	0	0	1	0	0	0	13006	1580	55	3	70	3	RAGE	14	102695693	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20343	102695693	4653847	3428	19884										
RAGE	5891	hgsc.bcm.edu	37	chr14	102698131	102698131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaagccagcttttctgtgGctgcccagagcccgcttctc	11	14	2	1	rs7152550	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102698131G>A	ENST00000361847.2	-	10	1125	c.894C>T	c.(892-894)agC>agT	p.S298S	MOK_ENST00000522874.1_Silent_p.S297S|MOK_ENST00000519058.1_Intron|MOK_ENST00000522867.1_Intron|MOK_ENST00000524370.1_Intron|MOK_ENST00000517966.1_Intron|MOK_ENST00000520266.1_Intron|MOK_ENST00000524214.1_Silent_p.S268S|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_Intron|MOK_ENST00000522534.1_Intron|MOK_ENST00000193029.6_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	298					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CTTTTCTGTGGCTGCCCAGAG	0.567													G|||	279	0.0557109	0.0166	0.049	5008	,	,		17613	0.003		0.0795	False		,,,				2504	0.1431				p.S298S		Atlas-SNP	.											.	.	.	.	0			c.C894T						PASS	.	G		121,4285	89.7+/-128.4	1,119,2083	108	110	109		894	-1	0	14	dbSNP_116	109	617,7983	161.4+/-214.4	17,583,3700	no	coding-synonymous	MOK	NM_014226.1		18,702,5783	AA,AG,GG		7.1744,2.7463,5.6743		298/420	102698131	738,12268	2203	4300	6503	SO:0001819	synonymous_variant	5891	exon10			TCTGTGGCTGCCC	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.894C>T	14.37:g.102698131G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	108	46	0.425926	NM_014226	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	CCDS9971.1	81	0.03708791208791209	10	0.02032520325203252	21	0.058011049723756904	2	0.0034965034965034965	48	0.0633245382585752	G	4.163	0.028658	0.08054	0.027463	0.071744	ENSG00000080823	ENST00000521937	.	.	.	4.73	-1.03	0.10102	.	.	.	.	.	T	0.01661	0.0053	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17531	-1.0366	4	.	.	.	-17.238	4.5829	0.12267	0.0905:0.4589:0.3077:0.1429	rs7152550;rs7152550	.	.	.	S	10	.	.	P	-	1	0	RAGE	101767884	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.206000	0.17375	-0.088000	0.12506	-0.391000	0.06502	CCA	G|0.951;A|0.049	0.049	strong		0.567	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			A	102698131	G	A	102698131	2	1	23	1	0	0	0	0	0	0	0	1	13006	1194	42	2		2	RAGE	14	102698131	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2438	102698131	4651409	3429	19885										
RAGE	5891	hgsc.bcm.edu	37	chr14	102729881	102729881	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctttcaaattattctacgtAcctcgtattagctcataaat	4	9	3	0	rs56377169	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102729881A>G	ENST00000361847.2	-	4	515		c.e4+1		MOK_ENST00000522874.1_Splice_Site|MOK_ENST00000524214.1_Splice_Site|MOK_ENST00000193029.6_Splice_Site	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase						protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TATTCTACGTACCTCGTATTA	0.318													A|||	278	0.0555112	0.0166	0.049	5008	,	,		18341	0.003		0.0785	False		,,,				2504	0.1431				.		Atlas-SNP	.											.	.	.	.	0			c.283+2T>C						PASS	.	A		121,4281	87.3+/-125.9	1,119,2081	108	109	108			5.8	1	14	dbSNP_129	108	613,7987	157.7+/-211.4	17,579,3704	yes	splice-5	MOK	NM_014226.1		18,698,5785	GG,GA,AA		7.1279,2.7488,5.6453			102729881	734,12268	2201	4300	6501	SO:0001630	splice_region_variant	5891	exon5			CTACGTACCTCGT	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.283+1T>C	14.37:g.102729881A>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	96	31	0.322917	NM_014226	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Splice_Site	SNP	ENST00000361847.2	37	CCDS9971.1	80	0.03663003663003663	10	0.02032520325203252	20	0.055248618784530384	2	0.0034965034965034965	48	0.0633245382585752	A	19.54	3.847364	0.71603	0.027488	0.071279	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3848	0.66938	1.0:0.0:0.0:0.0	rs56377169	.	.	.	.	-1	.	.	.	-	.	.	RAGE	101799634	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.256000	0.78350	2.209000	0.71365	0.533000	0.62120	.	A|0.954;G|0.046	0.046	strong		0.318	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3		Intron	G	102729881	A	G	102729881	5	3	23	1	0	0	0	0	0	0	1	0	13006	405	14	2	1010	2	RAGE	14	102729881	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	31750	102729881	4619659	3430	19886										
ZNF839	55778	hgsc.bcm.edu	37	chr14	102807671	102807671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtttaggtttttcccctCcagtaaatgtgactgtctct	7	9	1	1	rs9464	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102807671C>T	ENST00000558850.1	+	8	1941	c.1591C>T	c.(1591-1593)Cca>Tca	p.P531S	ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Missense_Mutation_p.P533S|ZNF839_ENST00000559185.1_Missense_Mutation_p.P531S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P647S	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	531			P -> S (in dbSNP:rs9464).				metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTTTCCCCTCCAGTAAATGT	0.537													C|||	368	0.0734824	0.1906	0.0403	5008	,	,		18164	0.001		0.0616	False		,,,				2504	0.0256				p.P647S		Atlas-SNP	.											.	ZNF839	41	.	0			c.C1939T						PASS	.	C	SER/PRO	667,3377		54,559,1409	133	132	132		1939	1.5	0	14	dbSNP_52	132	465,7903		15,435,3734	yes	missense	ZNF839	NM_018335.3	74	69,994,5143	TT,TC,CC		5.5569,16.4936,9.1202	benign	647/928	102807671	1132,11280	2022	4184	6206	SO:0001583	missense	55778	exon8			TCCCCTCCAGTAA	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1591C>T	14.37:g.102807671C>T	ENSP00000453363:p.Pro531Ser	Somatic	312	0	0		WXS	Illumina HiSeq	Phase_I	347	130	0.37464	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	141	0.06456043956043957	83	0.16869918699186992	17	0.04696132596685083	0	0.0	41	0.05408970976253298	C	8.132	0.783314	0.16189	0.164936	0.055569	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.17370	2.28;2.33	4.56	1.54	0.23209	.	1.160120	0.06378	N	0.714782	T	0.00039	0.0001	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33103	0.397;0.187;0.187	B;B;B	0.28991	0.097;0.058;0.058	T	0.38243	-0.9670	10	0.15499	T	0.54	.	13.5885	0.61946	0.0:0.5279:0.4721:0.0	rs9464;rs3209420;rs52826173;rs59898673;rs9464	647;533;531	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	S	647;533;199;65	ENSP00000399863:P647S;ENSP00000262236:P533S	ENSP00000262236:P533S	P	+	1	0	ZNF839	101877424	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.167000	0.16602	0.074000	0.16767	0.514000	0.50259	CCA	T|0.080;G|0.001	0.080	strong		0.537	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102807671	C	T	102807671	3	4	23	1	0	0	0	0	1	0	0	0	18185	855	30	2	1969	2	ZNF839	14	102807671	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	77790	102807671	4541869	3431	19887										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102901023	102901023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacaggacagctctcctggGgcgcatgatggggaagacat	15	9	1	2	rs45605932	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102901023G>A	ENST00000359520.7	+	9	2095	c.1869G>A	c.(1867-1869)ggG>ggA	p.G623G	TECPR2_ENST00000558678.1_Silent_p.G623G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	623					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTCTCCTGGGGCGCATGATG	0.562													G|||	517	0.103235	0.2753	0.0519	5008	,	,		21086	0.001		0.0775	False		,,,				2504	0.0389				p.G623G		Atlas-SNP	.											.	TECPR2	114	.	0			c.G1869A						PASS	.	G	,	1086,3320	391.9+/-328.3	123,840,1240	72	51	58		1869,1869	2.8	0	14	dbSNP_127	58	696,7904	172.3+/-223.0	28,640,3632	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	151,1480,4872	AA,AG,GG		8.093,24.6482,13.7014	,	623/1268,623/1412	102901023	1782,11224	2203	4300	6503	SO:0001819	synonymous_variant	9895	exon9			TCCTGGGGCGCAT	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1869G>A	14.37:g.102901023G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	114	32	0.280702	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																			G|0.880;A|0.120	0.120	strong		0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		A	102901023	G	A	102901023	2	1	23	1	0	0	0	0	0	0	0	1	15741	1219	43	2		2	TECPR2	14	102901023	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	93352	102901023	4448517	3432	19888										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102901201	102901201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccagccaagagcaggacAtcctaaccagcatggaggcc	11	14	0	1	rs10149146	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102901201A>G	ENST00000359520.7	+	9	2273	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	TECPR2_ENST00000558678.1_Missense_Mutation_p.I683V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	683			I -> V (in dbSNP:rs10149146).		autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGAGCAGGACATCCTAACCAG	0.572													G|||	1076	0.214856	0.1286	0.1902	5008	,	,		21537	0.1478		0.2982	False		,,,				2504	0.3323				p.I683V		Atlas-SNP	.											.	TECPR2	114	.	0			c.A2047G						PASS	.	G	VAL/ILE,VAL/ILE	660,3746	763.6+/-413.2	58,544,1601	43	44	44		2047,2047	-6.8	0	14	dbSNP_119	44	2906,5694	669.8+/-402.7	470,1966,1864	yes	missense,missense	TECPR2	NM_001172631.1,NM_014844.3	29,29	528,2510,3465	GG,GA,AA		33.7907,14.9796,27.4181	benign,benign	683/1268,683/1412	102901201	3566,9440	2203	4300	6503	SO:0001583	missense	9895	exon9			CAGGACATCCTAA	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2047A>G	14.37:g.102901201A>G	ENSP00000352510:p.Ile683Val	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	51	32	0.627451	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	456	0.2087912087912088	63	0.12804878048780488	74	0.20441988950276244	91	0.1590909090909091	228	0.3007915567282322	G	0.760	-0.769554	0.02974	0.149796	0.337907	ENSG00000196663	ENST00000359520	T	0.13778	2.56	4.97	-6.78	0.01721	.	2.517140	0.01012	N	0.003842	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	8	.	.	.	.	0.9405	0.01355	0.2882:0.2126:0.3267:0.1726	rs10149146;rs10149146	683;683	A5PKY3;O15040	.;TCPR2_HUMAN	V	683	ENSP00000352510:I683V	.	I	+	1	0	TECPR2	101970954	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.836000	0.04382	-1.132000	0.02907	-0.993000	0.02533	ATC	A|0.744;G|0.256	0.256	strong		0.572	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		G	102901201	A	G	102901201	3	3	23	1	0	0	0	0	1	0	0	0	15741	217	8	2	2077	2	TECPR2	14	102901201	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	178	102901201	4448339	3433	19889										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102909991	102909991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcttcctggcaggtctgagCgtggatcgcccttgtgccag	13	12	2	1	rs17100923	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:102909991C>T	ENST00000359520.7	+	12	2986	c.2760C>T	c.(2758-2760)agC>agT	p.S920S	TECPR2_ENST00000558678.1_Silent_p.S920S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	920					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGGTCTGAGCGTGGATCGCC	0.532													C|||	431	0.0860623	0.2383	0.0403	5008	,	,		15922	0.001		0.0616	False		,,,				2504	0.0256				p.S920S		Atlas-SNP	.											.	TECPR2	114	.	0			c.C2760T						PASS	.	C	,	930,3476	351.1+/-311.1	87,756,1360	79	58	65		2760,2760	-10	0.1	14	dbSNP_123	65	505,8095	143.1+/-199.2	17,471,3812	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	104,1227,5172	TT,TC,CC		5.8721,21.1076,11.0334	,	920/1268,920/1412	102909991	1435,11571	2203	4300	6503	SO:0001819	synonymous_variant	9895	exon12			TCTGAGCGTGGAT	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2760C>T	14.37:g.102909991C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	82	31	0.378049	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																			C|0.899;T|0.101	0.101	strong		0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102909991	C	T	102909991	2	4	23	1	0	0	0	0	0	0	0	1	15741	767	27	1		1	TECPR2	14	102909991	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8790	102909991	4439549	3434	19890										
RCOR1	23186	hgsc.bcm.edu	37	chr14	103173756	103173756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgatttgcccaactttacCcctttcccagatgagtggac	8	13	0	3	rs149418829	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:103173756C>A	ENST00000570597.1	+	5	558	c.558C>A	c.(556-558)acC>acA	p.T186T	RCOR1_ENST00000262241.6_Silent_p.T189T			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	186	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAACTTTACCCCTTTCCCAG	0.363													C|||	31	0.0061901	0.0	0.0202	5008	,	,		16191	0.0		0.0129	False		,,,				2504	0.0041				p.T189T		Atlas-SNP	.											.	RCOR1	39	.	0			c.C567A						PASS	.	C		14,4392	21.2+/-45.6	0,14,2189	134	136	136		558	3.1	1	14	dbSNP_134	136	96,8504	53.1+/-113.8	0,96,4204	no	coding-synonymous	RCOR1	NM_015156.3		0,110,6393	AA,AC,CC		1.1163,0.3177,0.8458		186/483	103173756	110,12896	2203	4300	6503	SO:0001819	synonymous_variant	23186	exon5			CTTTACCCCTTTC	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.558C>A	14.37:g.103173756C>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	162	51	0.314815	NM_015156	Q15044|Q6P2I9|Q86VG5	Silent	SNP	ENST00000570597.1	37																																																																																				C|0.990;A|0.010	0.010	strong		0.363	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		A	103173756	C	A	103173756	2	1	23	1	0	0	0	0	0	0	0	1	13182	610	22	4		4	RCOR1	14	103173756	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263765	103173756	4175784	3435	19891										
TRAF3	7187	hgsc.bcm.edu	37	chr14	103336727	103336727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctggtgctgtgcagcccGaagcagaccgagtgtgggca	15	12	0	1	rs142350527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:103336727G>A	ENST00000560371.1	+	2	406	c.189G>A	c.(187-189)ccG>ccA	p.P63P	TRAF3_ENST00000351691.5_Silent_p.P63P|TRAF3_ENST00000539721.1_Silent_p.P63P|TRAF3_ENST00000347662.4_Silent_p.P63P|TRAF3_ENST00000392745.2_Silent_p.P63P	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	63					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGTGCAGCCCGAAGCAGACCG	0.617													G|||	23	0.00459265	0.0	0.0159	5008	,	,		16014	0.0		0.0119	False		,,,				2504	0.0				p.P63P		Atlas-SNP	.											.	TRAF3	60	.	0			c.G189A						PASS	.	G	,,,	8,4398	14.3+/-33.2	0,8,2195	76	65	68		189,189,189,189	-10.9	0.4	14	dbSNP_134	68	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRAF3	NM_001199427.1,NM_003300.3,NM_145725.2,NM_145726.2	,,,	0,36,6467	AA,AG,GG		0.3256,0.1816,0.2768	,,,	63/486,63/569,63/569,63/544	103336727	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	7187	exon3			CAGCCCGAAGCAG	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.189G>A	14.37:g.103336727G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	93	37	0.397849	NM_145726	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	CCDS9975.1																																																																																			G|0.996;A|0.004	0.004	strong		0.617	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		A	103336727	G	A	103336727	2	1	23	1	0	0	0	0	0	0	0	1	16436	1045	37	1		1	TRAF3	14	103336727	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	162971	103336727	4012813	3436	19892										
CDC42BPB	9578	hgsc.bcm.edu	37	chr14	103440473	103440473	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtcctcaagctgtcgctcGagcctgtttgaatctggaca	11	11	2	1	rs8009219	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:103440473G>C	ENST00000361246.2	-	12	1809	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTGTCGCTCGAGCCTGTTTG	0.517													G|||	2959	0.590855	0.4138	0.6758	5008	,	,		19823	0.5764		0.659	False		,,,				2504	0.7147				p.L507L		Atlas-SNP	.											.	CDC42BPB	123	.	0			c.C1521G						PASS	.	G		2049,2357	567.3+/-382.1	495,1059,649	46	47	47		1521	-10.8	0	14	dbSNP_116	47	5602,2998	665.3+/-402.3	1855,1892,553	no	coding-synonymous	CDC42BPB	NM_006035.3		2350,2951,1202	CC,CG,GG		34.8605,46.5048,41.1733		507/1712	103440473	7651,5355	2203	4300	6503	SO:0001819	synonymous_variant	9578	exon12			TCGCTCGAGCCTG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1521C>G	14.37:g.103440473G>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	99	28	0.282828	NM_006035		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																			G|0.410;C|0.589	0.589	strong		0.517	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		C	103440473	G	C	103440473	2	2	23	1	0	0	0	0	0	0	0	1	3073	1045	37	4		4	CDC42BPB	14	103440473	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	103746	103440473	3909067	3437	19893										
KLC1	3831	hgsc.bcm.edu	37	chr14	104143806	104143806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactttacagacgtcaaggCaaatttgaagctgcagaaac	9	9	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104143806C>T	ENST00000348520.6	+	12	1753	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	KLC1_ENST00000347839.6_Silent_p.G478G|KLC1_ENST00000555836.1_Silent_p.G478G|KLC1_ENST00000389744.4_Silent_p.G478G|KLC1_ENST00000246489.7_Silent_p.G478G|KLC1_ENST00000452929.2_Silent_p.G478G|KLC1_ENST00000334553.6_Silent_p.G478G|KLC1_ENST00000557450.1_Silent_p.G478G|KLC1_ENST00000445352.4_Silent_p.G476G|KLC1_ENST00000554280.1_Silent_p.G478G|KLC1_ENST00000553286.1_Silent_p.G478G|KLC1_ENST00000380038.3_Silent_p.G478G|RP11-73M18.2_ENST00000472726.2_Silent_p.G650G|KLC1_ENST00000557575.1_Silent_p.G478G	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	478					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GACGTCAAGGCAAATTTGAAG	0.418																																					p.G478G		Atlas-SNP	.											.	KLC1	54	.	0			c.C1434T						PASS	.						145	141	143					14																	104143806		2203	4300	6503	SO:0001819	synonymous_variant	3831	exon12			TCAAGGCAAATTT	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1434C>T	14.37:g.104143806C>T		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	126	35	0.277778	NM_182923	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.60|10.60	1.396952|1.396952	0.25205|0.25205	.|.	.|.	ENSG00000126214|ENSG00000126214	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000537046	.|.	.|.	.|.	5.52|5.52	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|.	0.72350|.	0.3449|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71869|.	-0.4462|.	4|.	.|.	.|.	.|.	-15.9577|-15.9577	17.9404|17.9404	0.89025|0.89025	0.0:0.7802:0.2198:0.0|0.0:0.7802:0.2198:0.0	.|.	.|.	.|.	.|.	V|X	58;54;52|84	.|.	.|.	A|Q	+|+	2|1	0|0	KLC1|KLC1	103213559|103213559	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	1.666000|1.666000	0.37460|0.37460	0.313000|0.313000	0.23062|0.23062	0.655000|0.655000	0.94253|0.94253	GCA|CAA	.	.	none		0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		T	104143806	C	T	104143806	2	4	23	1	0	0	0	0	0	0	0	1	8333	697	25	2		2	KLC1	14	104143806	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	703333	104143806	3205734	3438	19894										
XRCC3	7517	hgsc.bcm.edu	37	chr14	104174950	104174950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggttggtcagtctcttcaaGtctggtccagaaaagtgtaa	11	7	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104174950G>T	ENST00000553264.1	-	3	898	c.102C>A	c.(100-102)gaC>gaA	p.D34E	XRCC3_ENST00000554913.1_Missense_Mutation_p.D34E|XRCC3_ENST00000445556.1_Missense_Mutation_p.D34E|XRCC3_ENST00000555055.1_Missense_Mutation_p.D34E|XRCC3_ENST00000554974.1_Intron|AL049840.1_ENST00000429169.1_5'Flank|XRCC3_ENST00000352127.7_Missense_Mutation_p.D34E			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	34					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		GTCTCTTCAAGTCTGGTCCAG	0.498								Direct reversal of damage;Homologous recombination																													p.D34E		Atlas-SNP	.											.	XRCC3	16	.	0			c.C102A						PASS	.						119	104	109					14																	104174950		2203	4300	6503	SO:0001583	missense	7517	exon5			CTTCAAGTCTGGT	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.102C>A	14.37:g.104174950G>T	ENSP00000451974:p.Asp34Glu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	144	46	0.319444	NM_005432	O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	G	7.232	0.599455	0.13939	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556;ENST00000553361;ENST00000556980;ENST00000555964;ENST00000556682;ENST00000553332;ENST00000554170	T;T;T;T;T;T;T;T	0.60299	1.06;1.06;1.06;1.06;1.06;0.2;0.68;0.59	5.44	-0.127	0.13510	.	0.095213	0.64402	D	0.000001	T	0.35038	0.0918	L	0.45228	1.405	0.23754	N	0.996937	P	0.39535	0.677	B	0.31686	0.134	T	0.36335	-0.9752	10	0.10377	T	0.69	-0.0139	6.7499	0.23482	0.4232:0.0:0.4621:0.1147	.	34	O43542	XRCC3_HUMAN	E	34	ENSP00000451362:D34E;ENSP00000343392:D34E;ENSP00000451974:D34E;ENSP00000452598:D34E;ENSP00000412990:D34E;ENSP00000451118:D34E;ENSP00000451252:D34E;ENSP00000451173:D34E	ENSP00000343392:D34E	D	-	3	2	XRCC3	103244703	0.756000	0.28383	0.283000	0.24790	0.039000	0.13416	0.177000	0.16801	0.039000	0.15632	-0.918000	0.02743	GAC	.	.	none		0.498	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		T	104174950	G	T	104174950	3	4	23	1	0	0	0	0	1	0	0	0	17451	1020	36	4	962	4	XRCC3	14	104174950	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	31144	104174950	3174590	3439	19895										
ASPG	374569	hgsc.bcm.edu	37	chr14	104559852	104559852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccagccgcaaccagaggatTctctacaccgtgctggagtg	12	13	1	1	rs941953	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104559852T>C	ENST00000551177.1	+	3	308	c.216T>C	c.(214-216)atT>atC	p.I72I	ASPG_ENST00000455920.2_Silent_p.I72I|ASPG_ENST00000546892.2_Silent_p.I72I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	72	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACCAGAGGATTCTCTACACCG	0.622													C|||	2067	0.41274	0.6823	0.3314	5008	,	,		13262	0.3869		0.1809	False		,,,				2504	0.3712				p.I72I		Atlas-SNP	.											.	ASPG	34	.	0			c.T216C						PASS	.	C		2280,1854		606,1068,393	69	81	77		216	1.6	0.8	14	dbSNP_86	77	1413,6957		119,1175,2891	no	coding-synonymous	ASPG	NM_001080464.2		725,2243,3284	CC,CT,TT		16.8817,44.8476,29.5345		72/574	104559852	3693,8811	2067	4185	6252	SO:0001819	synonymous_variant	374569	exon3			GAGGATTCTCTAC		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.216T>C	14.37:g.104559852T>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	153	89	0.581699	NM_001080464	B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	CCDS45170.2	788	0.3608058608058608	317	0.6443089430894309	126	0.34806629834254144	218	0.3811188811188811	127	0.16754617414248021	C	2.774	-0.255089	0.05829	0.551524	0.168817	ENSG00000166183	ENST00000551170	.	.	.	3.57	1.64	0.23874	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.19575	P	0.9999653784	.	.	.	.	.	.	T	0.39820	-0.9595	3	.	.	.	-22.8141	3.8673	0.09021	0.1665:0.4251:0.0:0.4083	rs941953;rs1744283;rs59940089;rs941953	.	.	.	P	9	.	.	S	+	1	0	ASPG	103629605	0.001000	0.12720	0.761000	0.31378	0.086000	0.17979	-0.340000	0.07821	0.172000	0.19760	-1.140000	0.01884	TCT	T|0.625;C|0.375	0.375	strong		0.622	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		C	104559852	T	C	104559852	2	2	23	1	0	0	0	0	0	0	0	1	1052	1771	62	2		2	ASPG	14	104559852	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	384902	104559852	2789688	3440	19896										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104641612	104641612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccaccggccctccaagggTccccgagacgcagaccactt	10	19	0	2	rs4906422	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104641612T>C	ENST00000423312.2	+	12	2487	c.2487T>C	c.(2485-2487)ggT>ggC	p.G829G	KIF26A_ENST00000315264.7_Silent_p.G690G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGGGTCCCCGAGACG	0.682													C|||	1475	0.294529	0.1127	0.3545	5008	,	,		14159	0.3998		0.3022	False		,,,				2504	0.3814				p.G829G		Atlas-SNP	.											KIF26A,NS,carcinoma,0,1	KIF26A	84	1	0			c.T2487C						PASS	.	C		495,3585		34,427,1579	15	18	17		2487	-2.1	0	14	dbSNP_111	17	2411,5939		389,1633,2153	no	coding-synonymous	KIF26A	NM_015656.1		423,2060,3732	CC,CT,TT		28.8743,12.1324,23.3789		829/1883	104641612	2906,9524	2040	4175	6215	SO:0001819	synonymous_variant	26153	exon12			CAAGGGTCCCCGA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2487T>C	14.37:g.104641612T>C		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	63	45	0.714286	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.708;C|0.292	0.292	strong		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104641612	T	C	104641612	2	2	23	1	0	0	0	0	0	0	0	1	8294	1654	58	2		2	KIF26A	14	104641612	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	81760	104641612	2707928	3441	19897										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104642422	104642422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggggcccctggagggggcAgcctgggccggcagcagtca	21	12	1	0	rs3742947	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104642422A>G	ENST00000423312.2	+	12	3297	c.3297A>G	c.(3295-3297)gcA>gcG	p.A1099A	KIF26A_ENST00000315264.7_Silent_p.A960A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1099					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGAGGGGGCAGCCTGGGCCG	0.687													G|||	1559	0.311302	0.1437	0.3617	5008	,	,		14259	0.4067		0.3062	False		,,,				2504	0.409				p.A1099A		Atlas-SNP	.											.	KIF26A	84	.	0			c.A3297G						PASS	.	G		464,2976		33,398,1289	4	6	6		3297	-8.6	0	14	dbSNP_107	6	2073,5659		312,1449,2105	no	coding-synonymous	KIF26A	NM_015656.1		345,1847,3394	GG,GA,AA		26.8107,13.4884,22.7086		1099/1883	104642422	2537,8635	1720	3866	5586	SO:0001819	synonymous_variant	26153	exon12			GGGGGCAGCCTGG	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3297A>G	14.37:g.104642422A>G		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	21	7	0.333333	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			A|0.697;G|0.303	0.303	strong		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104642422	A	G	104642422	2	3	23	1	0	0	0	0	0	0	0	1	8294	175	7	3		3	KIF26A	14	104642422	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	810	104642422	2707118	3442	19898										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104643409	104643409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggccagcaaggtagaagcAgcacaccgtcttgccggaca	13	13	1	1	rs2487303	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:104643409A>G	ENST00000423312.2	+	12	4284	c.4284A>G	c.(4282-4284)gcA>gcG	p.A1428A	KIF26A_ENST00000315264.7_Silent_p.A1289A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1428					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGTAGAAGCAGCACACCGTC	0.706													G|||	3872	0.773163	0.826	0.7176	5008	,	,		14740	0.7827		0.7048	False		,,,				2504	0.8016				p.A1428A		Atlas-SNP	.											KIF26A,NS,carcinoma,0,1	KIF26A	84	1	0			c.A4284G						scavenged	.	G		3386,734		1393,600,67	11	16	14		4284	-7.2	0	14	dbSNP_100	14	6044,2232		2231,1582,325	no	coding-synonymous	KIF26A	NM_015656.1		3624,2182,392	GG,GA,AA		26.9696,17.8155,23.9271		1428/1883	104643409	9430,2966	2060	4138	6198	SO:0001819	synonymous_variant	26153	exon12			AGAAGCAGCACAC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4284A>G	14.37:g.104643409A>G		Somatic	2	1	0.5		WXS	Illumina HiSeq	Phase_I	7	7	1	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			A|0.242;G|0.758	0.758	strong		0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104643409	A	G	104643409	2	3	23	1	0	0	0	0	0	0	0	1	8294	175	7	3		3	KIF26A	14	104643409	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	987	104643409	2706131	3443	19899										
INF2	64423	hgsc.bcm.edu	37	chr14	105173863	105173868	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggagcagcaggcgtccaCcccacccccacccccacccc					rs573567814	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CCCCAC	CCCCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105173863_105173868delCCCCAC	ENST00000392634.4	+	8	1371_1376	c.1259_1264delCCCCAC	c.(1258-1266)accccaccc>acc	p.PP427del	INF2_ENST00000330634.7_In_Frame_Del_p.PP427del	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	427	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.P427_P428delPP(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGGCGTCCAccccacccccaccccc	0.718																																					p.420_421del		Pindel	.											.	INF2	148	.	1	Deletion - In frame(1)	skin(1)	c.1258_1263del						PASS	.																																			SO:0001651	inframe_deletion	64423	exon8			.	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1259_1264delCCCCAC	14.37:g.105173869_105173874delCCCCAC	ENSP00000376410:p.Pro427_Pro428del	Somatic	83	.	.		WXS	Illumina HiSeq	Phase_I	92	19	0.207	NM_001031714	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	In_Frame_Del	DEL	ENST00000392634.4	37	CCDS9989.2																																																																																			.	.	alt		0.718	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		-	105173868	CCCCAC	-	105173863	7	5	23	1	0	1	0	1	0	0	0	0	7734	507	18	0	1289	0	INF2	14	105173863	In_Frame_Del	DEL	CCCCAC	TCGA-GR-7353-01A-11D-2210-10	530454	105173863	2175677	3444	19900										
INF2	64423	hgsc.bcm.edu	37	chr14	105179184	105179184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccagcatctcggccttccGggcactggatgagctgtttg	14	12	1	1	rs142678449	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105179184G>A	ENST00000392634.4	+	18	2742	c.2630G>A	c.(2629-2631)cGg>cAg	p.R877Q	INF2_ENST00000330634.7_Missense_Mutation_p.R877Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	877	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCGGCCTTCCGGGCACTGGAT	0.677													G|||	28	0.00559105	0.0023	0.013	5008	,	,		17221	0.0		0.0089	False		,,,				2504	0.0072				p.R877Q		Atlas-SNP	.											.	INF2	148	.	0			c.G2630A						PASS	.	G	GLN/ARG,GLN/ARG	6,4024		0,6,2009	24	28	27		2630,2630	-4.1	0	14	dbSNP_134	27	89,8255		2,85,4085	yes	missense,missense	INF2	NM_022489.3,NM_001031714.3	43,43	2,91,6094	AA,AG,GG		1.0666,0.1489,0.7677	benign,benign	877/1250,877/1241	105179184	95,12279	2015	4172	6187	SO:0001583	missense	64423	exon18			CCTTCCGGGCACT	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2630G>A	14.37:g.105179184G>A	ENSP00000376410:p.Arg877Gln	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	145	50	0.344828	NM_022489	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	CCDS9989.2	16	0.007326007326007326	1	0.0020325203252032522	9	0.024861878453038673	0	0.0	6	0.0079155672823219	G	13.65	2.300727	0.40694	0.001489	0.010666	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.17213	2.29;2.29	5.06	-4.11	0.03928	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	1.264760	0.05384	N	0.537746	T	0.05731	0.0150	L	0.27053	0.805	0.09310	N	1	B;B	0.24882	0.093;0.113	B;B	0.17722	0.008;0.019	T	0.31308	-0.9948	10	0.17369	T	0.5	.	14.103	0.65070	0.6837:0.0:0.3163:0.0	.	877;877	Q27J81-2;Q27J81	.;INF2_HUMAN	Q	877	ENSP00000376406:R877Q;ENSP00000376410:R877Q	ENSP00000252527:R345Q	R	+	2	0	INF2	104250229	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.660000	0.05317	-1.495000	0.01831	0.561000	0.74099	CGG	G|0.992;A|0.008	0.008	strong		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		A	105179184	G	A	105179184	3	1	23	1	0	0	0	0	1	0	0	0	7734	1116	39	1	2700	1	INF2	14	105179184	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5321	105179184	2170356	3445	19901										
INF2	64423	hgsc.bcm.edu	37	chr14	105180785	105180785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggatccccagtgcccccagCccttggagggggcctggccg	15	16	0	0	rs34251364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105180785C>T	ENST00000392634.4	+	21	3398	c.3286C>T	c.(3286-3288)Ccc>Tcc	p.P1096S	INF2_ENST00000330634.7_Missense_Mutation_p.P1096S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1096			P -> S (in dbSNP:rs34251364).		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GTGCCCCCAGCCCTTGGAGGG	0.642													C|||	229	0.0457268	0.0113	0.0461	5008	,	,		16564	0.0159		0.0835	False		,,,				2504	0.0838				p.P1096S		Atlas-SNP	.											.	INF2	148	.	0			c.C3286T						PASS	.	C	SER/PRO,SER/PRO	86,3762		1,84,1839	27	34	32		3286,3286	1.1	0	14	dbSNP_126	32	619,7613		27,565,3524	yes	missense,missense	INF2	NM_022489.3,NM_001031714.3	74,74	28,649,5363	TT,TC,CC		7.5194,2.2349,5.8361	benign,benign	1096/1250,1096/1241	105180785	705,11375	1924	4116	6040	SO:0001583	missense	64423	exon21			CCCCAGCCCTTGG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3286C>T	14.37:g.105180785C>T	ENSP00000376410:p.Pro1096Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	125	75	0.6	NM_022489	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	CCDS9989.2	98	0.04487179487179487	4	0.008130081300813009	24	0.06629834254143646	11	0.019230769230769232	59	0.07783641160949868	C	11.75	1.732891	0.30684	0.022349	0.075194	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.79940	-1.31;-1.32	4.29	1.1	0.20463	.	0.960665	0.08440	U	0.945563	T	0.09642	0.0237	L	0.34521	1.04	0.80722	P	0.0	B;B	0.33807	0.426;0.3	B;B	0.29077	0.098;0.045	T	0.38156	-0.9674	9	0.22109	T	0.4	.	5.9086	0.19014	0.3824:0.431:0.1866:0.0	rs34251364	1096;1096	Q27J81-2;Q27J81	.;INF2_HUMAN	S	1096	ENSP00000376406:P1096S;ENSP00000376410:P1096S	ENSP00000252527:P564S	P	+	1	0	INF2	104251830	0.649000	0.27322	0.012000	0.15200	0.031000	0.12232	2.003000	0.40844	0.890000	0.36211	-0.500000	0.04577	CCC	C|0.946;T|0.054	0.054	strong		0.642	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		T	105180785	C	T	105180785	3	4	23	1	0	0	0	0	1	0	0	0	7734	739	26	2	3368	2	INF2	14	105180785	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1601	105180785	2168755	3446	19902										
ADSSL1	122622	hgsc.bcm.edu	37	chr14	105211221	105211221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgtctcatacaagctgaaCgggaaaaggattccctattt	10	8	1	1	rs12432802	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105211221C>T	ENST00000330877.2	+	11	1231	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_5'Flank|ADSSL1_ENST00000332972.5_Silent_p.N425N	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACAAGCTGAACGGGAAAAGGA	0.532													C|||	1020	0.203674	0.0658	0.2046	5008	,	,		20645	0.5228		0.0656	False		,,,				2504	0.2025				p.N425N		Atlas-SNP	.											.	ADSSL1	37	.	0			c.C1275T						PASS	.	C	,	261,4145	149.2+/-183.4	8,245,1950	84	78	80		1146,1275	-1.4	0.8	14	dbSNP_120	80	559,8041	152.2+/-206.8	16,527,3757	no	coding-synonymous,coding-synonymous	ADSSL1	NM_152328.3,NM_199165.1	,	24,772,5707	TT,TC,CC		6.5,5.9237,6.3048	,	382/458,425/501	105211221	820,12186	2203	4300	6503	SO:0001819	synonymous_variant	122622	exon11			GCTGAACGGGAAA	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1146C>T	14.37:g.105211221C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	167	43	0.257485	NM_199165		Silent	SNP	ENST00000330877.2	37	CCDS9990.1																																																																																			C|0.882;T|0.118	0.118	strong		0.532	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			T	105211221	C	T	105211221	2	4	23	1	0	0	0	0	0	0	0	1	348	535	19	1		1	ADSSL1	14	105211221	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30436	105211221	2138319	3447	19903										
SIVA1	10572	hgsc.bcm.edu	37	chr14	105222037	105222037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgggatgaaggctgtgcCgtcgttcacctgccagagtc	15	10	1	2	rs1132975	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105222037C>T	ENST00000329967.6	+	2	291	c.189C>T	c.(187-189)gcC>gcT	p.A63A	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	63					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		AAGGCTGTGCCGTCGTTCACC	0.622													C|||	2170	0.433307	0.2398	0.5014	5008	,	,		18850	0.624		0.34	False		,,,				2504	0.546				p.A63A		Atlas-SNP	.											.	SIVA1	12	.	0			c.C189T						PASS	.	C	,	1189,3217	416.5+/-337.6	169,851,1183	79	76	77		189,	0	0	14	dbSNP_86	77	2917,5683	455.5+/-363.8	501,1915,1884	no	coding-synonymous,intron	SIVA1	NM_006427.3,NM_021709.2	,	670,2766,3067	TT,TC,CC		33.9186,26.9859,31.57	,	63/176,	105222037	4106,8900	2203	4300	6503	SO:0001819	synonymous_variant	10572	exon2			CTGTGCCGTCGTT	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.189C>T	14.37:g.105222037C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	146	146	1	NM_006427	Q96P98|Q9UPD6	Silent	SNP	ENST00000329967.6	37	CCDS9992.1	905	0.4143772893772894	140	0.2845528455284553	168	0.46408839779005523	345	0.6031468531468531	252	0.3324538258575198	C	8.528	0.870369	0.17322	0.269859	0.339186	ENSG00000184990	ENST00000556195	.	.	.	5.03	0.00199	0.14048	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.47341	P	6.099999999999994E-4	.	.	.	.	.	.	T	0.46498	-0.9187	3	.	.	.	-12.2268	8.0122	0.30359	0.0:0.5495:0.0:0.4505	rs1132975;rs3194340;rs3803306;rs59682710;rs1132975	.	.	.	L	81	.	.	P	+	2	0	SIVA1	104293082	0.000000	0.05858	0.002000	0.10522	0.873000	0.50193	-0.220000	0.09215	-0.046000	0.13446	-0.251000	0.11542	CCG	C|0.646;T|0.354	0.354	strong		0.622	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		T	105222037	C	T	105222037	2	4	23	1	0	0	0	0	0	0	0	1	14345	639	23	1		1	SIVA1	14	105222037	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10816	105222037	2127503	3448	19904										
KIAA0284	283638	hgsc.bcm.edu	37	chr14	105344293	105344293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaacgatgtcatccgcttCggctacgatatcctgcccct	7	16	2	0	rs61995995	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105344293C>T	ENST00000414716.3	+	4	495	c.267C>T	c.(265-267)ttC>ttT	p.F89F	CEP170B_ENST00000453495.1_Silent_p.F89F|CEP170B_ENST00000556508.1_Silent_p.F19F|CEP170B_ENST00000418279.1_Silent_p.F19F	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	89						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TCATCCGCTTCGGCTACGATA	0.597													C|||	1772	0.353834	0.1339	0.5159	5008	,	,		13855	0.1994		0.5716	False		,,,				2504	0.4714				p.F89F		Atlas-SNP	.											.	.	.	.	0			c.C267T						PASS	.	C	,	873,3325		116,641,1342	48	55	53		267,57	-2.1	1	14	dbSNP_129	53	4853,3587		1408,2037,775	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	1524,2678,2117	TT,TC,CC		42.5,20.7956,45.3078	,	89/1555,19/1520	105344293	5726,6912	2099	4220	6319	SO:0001819	synonymous_variant	283638	exon4			CCGCTTCGGCTAC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.267C>T	14.37:g.105344293C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	136	82	0.602941	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																			C|0.592;T|0.408	0.408	strong		0.597	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		T	105344293	C	T	105344293	2	4	23	1	0	0	0	0	0	0	0	1	8166	883	31	1		1	KIAA0284	14	105344293	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	122256	105344293	2005247	3449	19905										
KIAA0284	283638	hgsc.bcm.edu	37	chr14	105344823	105344823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgtgcagcaccgagtcccGgaggaggcactcaaggttag	15	11	1	0	rs41314519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105344823G>A	ENST00000414716.3	+	5	546	c.318G>A	c.(316-318)ccG>ccA	p.P106P	CEP170B_ENST00000453495.1_Silent_p.P106P|CEP170B_ENST00000556508.1_Silent_p.P36P|CEP170B_ENST00000418279.1_Silent_p.P36P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	106						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P106P(1)									ACCGAGTCCCGGAGGAGGCAC	0.627													G|||	150	0.0299521	0.0015	0.0259	5008	,	,		18718	0.0367		0.0447	False		,,,				2504	0.0491				p.P106P		Atlas-SNP	.											KIAA0284_ENST00000414716,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.G318A						scavenged	.	G	,	31,4161		0,31,2065	95	102	100		318,108	-8.3	0	14	dbSNP_127	100	285,8149		3,279,3935	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	3,310,6000	AA,AG,GG		3.3792,0.7395,2.5028	,	106/1555,36/1520	105344823	316,12310	2096	4217	6313	SO:0001819	synonymous_variant	283638	exon5			AGTCCCGGAGGAG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.318G>A	14.37:g.105344823G>A		Somatic	72	1	0.0138889		WXS	Illumina HiSeq	Phase_I	129	47	0.364341	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																			G|0.969;A|0.031	0.031	strong		0.627	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		A	105344823	G	A	105344823	2	1	23	1	0	0	0	0	0	0	0	1	8166	1103	39	1		1	KIAA0284	14	105344823	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	530	105344823	2004717	3450	19906										
KIAA0284	283638	hgsc.bcm.edu	37	chr14	105346632	105346632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgcccacagcatgaaaaGtacaccagccagctgcaggt	10	14	0	1	rs72700176	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105346632G>A	ENST00000414716.3	+	6	570	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CEP170B_ENST00000453495.1_Silent_p.K114K|CEP170B_ENST00000556508.1_Silent_p.K44K|CEP170B_ENST00000418279.1_Silent_p.K44K	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	114						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AGCATGAAAAGTACACCAGCC	0.657													G|||	146	0.0291534	0.0015	0.0216	5008	,	,		18700	0.0357		0.0447	False		,,,				2504	0.0491				p.K114K		Atlas-SNP	.											.	.	.	.	0			c.G342A						PASS	.	G	,	30,4140		0,30,2055	32	40	38		342,132	2.4	1	14	dbSNP_130	38	281,8113		2,277,3918	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	2,307,5973	AA,AG,GG		3.3476,0.7194,2.4753	,	114/1555,44/1520	105346632	311,12253	2085	4197	6282	SO:0001819	synonymous_variant	283638	exon6			TGAAAAGTACACC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.342G>A	14.37:g.105346632G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	104	39	0.375	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																			G|0.971;A|0.029	0.029	strong		0.657	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		A	105346632	G	A	105346632	2	1	23	1	0	0	0	0	0	0	0	1	8166	1020	36	2		2	KIAA0284	14	105346632	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1809	105346632	2002908	3451	19907										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105411619	105411619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatctccaccttgggcaggTgccctttgaggccagctccc	11	16	1	1	rs200461684		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105411619T>C	ENST00000333244.5	-	7	10288	c.10169A>G	c.(10168-10170)cAc>cGc	p.H3390R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3390						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGGGCAGGTGCCCTTTGAG	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		17915	0.0		0.001	False		,,,				2504	0.0				p.H3390R		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A10169G						PASS	.	T	ARG/HIS	1,3791		0,1,1895	149	161	157		10169	4.2	0.8	14		157	10,8194		0,10,4092	no	missense	AHNAK2	NM_138420.2	29	0,11,5987	CC,CT,TT		0.1219,0.0264,0.0917	probably-damaging	3390/5796	105411619	11,11985	1896	4102	5998	SO:0001583	missense	113146	exon7			GGCAGGTGCCCTT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10169A>G	14.37:g.105411619T>C	ENSP00000353114:p.His3390Arg	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	246	96	0.390244	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	2.101	-0.406153	0.04832	2.64E-4	0.001219	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.22	4.22	0.49857	.	.	.	.	.	T	0.07007	0.0178	M	0.82923	2.615	0.09310	N	1	D	0.59357	0.985	P	0.52109	0.69	T	0.24977	-1.0145	9	0.17832	T	0.49	.	8.3292	0.32175	0.0:0.0:0.2686:0.7314	.	3390	Q8IVF2	AHNK2_HUMAN	R	3390	ENSP00000353114:H3390R	ENSP00000353114:H3390R	H	-	2	0	AHNAK2	104482664	0.865000	0.29922	0.833000	0.33012	0.077000	0.17291	3.174000	0.50847	1.792000	0.52537	0.402000	0.26972	CAC	T|0.999;C|0.001	0.001	weak		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411619	T	C	105411619	3	2	23	1	0	0	0	0	1	0	0	0	415	1696	59	2	7222	2	AHNAK2	14	105411619	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64987	105411619	1937921	3452	19908										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105413220	105413220	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcggatgtcagtggtcttAagatccccttgcatggaggg	14	8	2	1	rs151173659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105413220A>C	ENST00000333244.5	-	7	8687	c.8568T>G	c.(8566-8568)ctT>ctG	p.L2856L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2856						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGTCTTAAGATCCCCTT	0.637													.|||	57	0.0113818	0.0386	0.0029	5008	,	,		17917	0.0		0.0	False		,,,				2504	0.0041				p.L2856L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T8568G						PASS	.	G		157,3765		7,143,1811	126	144	138		8568	0	0	14	dbSNP_134	138	6,8298		0,6,4146	no	coding-synonymous	AHNAK2	NM_138420.2		7,149,5957	CC,CA,AA		0.0723,4.0031,1.3332		2856/5796	105413220	163,12063	1961	4152	6113	SO:0001819	synonymous_variant	113146	exon7			GGTCTTAAGATCC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8568T>G	14.37:g.105413220A>C		Somatic	205	1	0.00487805		WXS	Illumina HiSeq	Phase_I	249	167	0.670683	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.994;C|0.006	0.006	strong		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105413220	A	C	105413220	2	2	23	1	0	0	0	0	0	0	0	1	415	349	13	5		5	AHNAK2	14	105413220	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1601	105413220	1936320	3453	19909										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105413649	105413649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggccctctgggagtttcacAtccacctggccagcctggac	11	15	2	0	rs201545349	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105413649A>G	ENST00000333244.5	-	7	8258	c.8139T>C	c.(8137-8139)gaT>gaC	p.D2713D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2713						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACATCCACCTGGC	0.612													.|||	29	0.00579073	0.0174	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0061				p.D2713D		Atlas-SNP	.											AHNAK2_ENST00000333244,NS,carcinoma,-2,1	AHNAK2	719	1	0			c.T8139C						scavenged	.						130	144	139					14																	105413649		1936	4121	6057	SO:0001819	synonymous_variant	113146	exon7			TTTCACATCCACC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8139T>C	14.37:g.105413649A>G		Somatic	239	2	0.0083682		WXS	Illumina HiSeq	Phase_I	281	13	0.0462633	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.998;G|0.002	0.002	weak		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413649	A	G	105413649	2	3	23	1	0	0	0	0	0	0	0	1	415	214	8	2		2	AHNAK2	14	105413649	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	429	105413649	1935891	3454	19910										
AHNAK2	113146	hgsc.bcm.edu	37	chr14	105416784	105416784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcctggggccgacaccccAaatgatggcatcttgaactt	10	12	1	2	rs59373922	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105416784A>G	ENST00000333244.5	-	7	5123	c.5004T>C	c.(5002-5004)ttT>ttC	p.F1668F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1668						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCAAATGATGGCA	0.602													.|||	1298	0.259185	0.3563	0.1081	5008	,	,		17171	0.3462		0.1044	False		,,,				2504	0.3047				p.F1668F		Atlas-SNP	.											.	AHNAK2	719	.	0			c.T5004C						PASS	.	G		1080,2792		259,562,1115	198	234	223		5004	-6.9	0	14	dbSNP_129	223	900,7304		141,618,3343	no	coding-synonymous	AHNAK2	NM_138420.2		400,1180,4458	GG,GA,AA		10.9703,27.8926,16.3962		1668/5796	105416784	1980,10096	1936	4102	6038	SO:0001819	synonymous_variant	113146	exon7			CACCCCAAATGAT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5004T>C	14.37:g.105416784A>G		Somatic	250	1	0.004		WXS	Illumina HiSeq	Phase_I	380	164	0.431579	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			A|0.835;G|0.165	0.165	strong		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105416784	A	G	105416784	2	3	23	1	0	0	0	0	0	0	0	1	415	127	5	2		2	AHNAK2	14	105416784	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3135	105416784	1932756	3455	19911										
C14orf79	122616	hgsc.bcm.edu	37	chr14	105457923	105457923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcccgttgccaggagaactTctttcttgttctcggaatag	10	10	3	1	rs61745867	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105457923T>A	ENST00000547315.1	+	3	1304	c.665T>A	c.(664-666)tTc>tAc	p.F222Y	C14orf79_ENST00000549240.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	222										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			CAGGAGAACTTCTTTCTTGTT	0.542													T|||	24	0.00479233	0.0015	0.0072	5008	,	,		18114	0.0		0.0099	False		,,,				2504	0.0072				p.F222Y		Atlas-SNP	.											.	C14orf79	13	.	0			c.T665A						PASS	.	T	TYR/PHE	9,3843		0,9,1917	132	123	126		665	2.4	0	14	dbSNP_129	126	169,8123		4,161,3981	yes	missense	C14orf79	NM_174891.3	22	4,170,5898	AA,AT,TT		2.0381,0.2336,1.4657	benign	222/326	105457923	178,11966	1926	4146	6072	SO:0001583	missense	122616	exon3			AGAACTTCTTTCT		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.665T>A	14.37:g.105457923T>A	ENSP00000450114:p.Phe222Tyr	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	159	69	0.433962	NM_174891	B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	CCDS42000.1	11|11	0.005036630036630037|0.005036630036630037	1|1	0.0020325203252032522|0.0020325203252032522	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	8|8	0.010554089709762533|0.010554089709762533	T|T	3.056|3.056	-0.194267|-0.194267	0.06259|0.06259	0.002336|0.002336	0.020381|0.020381	ENSG00000140104|ENSG00000140104	ENST00000547315|ENST00000551606	.|.	.|.	.|.	3.62|3.62	2.43|2.43	0.29744|0.29744	.|.	1.254200|.	0.06177|.	N|.	0.678664|.	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.19112|0.19112	0.55|0.55	0.39067|0.39067	D|D	0.960632|0.960632	B|.	0.14805|.	0.011|.	B|.	0.08055|.	0.003|.	T|T	0.05241|0.05241	-1.0897|-1.0897	9|5	0.29301|.	T|.	0.29|.	-3.7825|-3.7825	6.0924|6.0924	0.20001|0.20001	0.2279:0.0:0.0:0.7721|0.2279:0.0:0.0:0.7721	rs61745867|rs61745867	222|.	Q96F83|.	CN079_HUMAN|.	Y|T	222|116	.|.	ENSP00000450114:F222Y|.	F|S	+|+	2|1	0|0	C14orf79|C14orf79	104528968|104528968	0.021000|0.021000	0.18746|0.18746	0.010000|0.010000	0.14722|0.14722	0.012000|0.012000	0.07955|0.07955	2.128000|2.128000	0.42045|0.42045	0.298000|0.298000	0.22638|0.22638	0.378000|0.378000	0.23410|0.23410	TTC|TCT	T|0.990;A|0.010	0.010	strong		0.542	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		A	105457923	T	A	105457923	3	1	23	1	0	0	0	0	1	0	0	0	1780	1783	62	5	675	5	C14orf79	14	105457923	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	41139	105457923	1891617	3456	19912										
JAG2	3714	hgsc.bcm.edu	37	chr14	105609335	105609335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtggccccccggccgctcAatggggttgcggatggggtt	17	11	1	0	rs10149229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105609335A>G	ENST00000331782.3	-	26	3817	c.3414T>C	c.(3412-3414)atT>atC	p.I1138I	JAG2_ENST00000347004.2_Silent_p.I1100I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1138					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCGGCCGCTCAATGGGGTTGC	0.726													G|||	3455	0.689896	0.8941	0.6571	5008	,	,		10693	0.5337		0.66	False		,,,				2504	0.6288				p.I1138I		Atlas-SNP	.											.	JAG2	69	.	0			c.T3414C						PASS	.	G	,	3661,665		1557,547,59	17	20	19		3414,3300	-1.2	1	14	dbSNP_119	19	5713,2733		1963,1787,473	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	3520,2334,532	GG,GA,AA		32.3585,15.3722,26.6051	,	1138/1239,1100/1201	105609335	9374,3398	2163	4223	6386	SO:0001819	synonymous_variant	3714	exon26			CCGCTCAATGGGG	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3414T>C	14.37:g.105609335A>G		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	14	10	0.714286	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																			A|0.286;G|0.714	0.714	strong		0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			G	105609335	A	G	105609335	2	3	23	1	0	0	0	0	0	0	0	1	7935	126	5	2		2	JAG2	14	105609335	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	151412	105609335	1740205	3457	19913										
JAG2	3714	hgsc.bcm.edu	37	chr14	105617042	105617042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggggctgctggcacactCgtctcgttccagctcgcaat	12	14	1	0	rs1057744	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105617042C>T	ENST00000331782.3	-	12	1904	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E463K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	501	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.		E -> K (in dbSNP:rs1057744). {ECO:0000269|PubMed:10079256, ECO:0000269|PubMed:10662552, ECO:0000269|PubMed:9315665}.		auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTGGCACACTCGTCTCGTTCC	0.701													C|||	2605	0.520168	0.8238	0.4107	5008	,	,		14114	0.3185		0.5417	False		,,,				2504	0.3732				p.E501K		Atlas-SNP	.											JAG2,NS,carcinoma,0,1	JAG2	69	1	0			c.G1501A						PASS	.	C	LYS/GLU,LYS/GLU	3254,1012		1278,698,157	17	15	16		1501,1387	1.4	0.1	14	dbSNP_86	16	4465,3887		1284,1897,995	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	56,56	2562,2595,1152	TT,TC,CC		46.5398,23.7225,38.8255	benign,benign	501/1239,463/1201	105617042	7719,4899	2133	4176	6309	SO:0001583	missense	3714	exon12			CACACTCGTCTCG	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1501G>A	14.37:g.105617042C>T	ENSP00000328169:p.Glu501Lys	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	100	64	0.64	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	1182	0.5412087912087912	397	0.806910569105691	168	0.46408839779005523	196	0.34265734265734266	421	0.5554089709762533	C	10.53	1.376496	0.24857	0.762775	0.534602	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87412	-2.25;-2.25	3.37	1.36	0.22044	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.823265	0.10860	N	0.626157	T	0.00012	0.0000	M	0.68728	2.09	0.58432	P	9.99999999995449E-6	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.41161	-0.9524	9	0.39692	T	0.17	.	2.7873	0.05377	0.24:0.4941:0.0:0.2659	rs1057744;rs61261226;rs1057744	463;501	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	K	501;463	ENSP00000328169:E501K;ENSP00000328566:E463K	ENSP00000328169:E501K	E	-	1	0	JAG2	104688087	0.000000	0.05858	0.068000	0.19968	0.763000	0.43281	0.056000	0.14256	0.035000	0.15519	0.297000	0.19635	GAG	C|0.423;T|0.577	0.577	strong		0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105617042	C	T	105617042	3	4	23	1	0	0	0	0	1	0	0	0	7935	893	31	1	2275	1	JAG2	14	105617042	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7707	105617042	1732498	3458	19914										
MTA1	9112	hgsc.bcm.edu	37	chr14	105930406	105930406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaaatcagcgtcaacaacGtcaaggccggtgtggtgaac	11	11	3	1	rs4983413	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105930406G>A	ENST00000331320.7	+	13	1328	c.1114G>A	c.(1114-1116)Gtc>Atc	p.V372I	MTA1_ENST00000406191.1_Missense_Mutation_p.V372I|MTA1_ENST00000405646.1_Missense_Mutation_p.V355I|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	372			V -> I (in dbSNP:rs4983413).		circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V372I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGTCAACAACGTCAAGGCCGG	0.617													G|||	1427	0.284944	0.0121	0.3314	5008	,	,		12491	0.622		0.2366	False		,,,				2504	0.3231				p.V372I		Atlas-SNP	.											MTA1,NS,carcinoma,0,1	MTA1	61	1	1	Substitution - Missense(1)	stomach(1)	c.G1114A						PASS	.	G	ILE/VAL,ILE/VAL	233,4173	138.0+/-173.8	9,215,1979	73	76	75		1114,1114	1.7	1	14	dbSNP_111	75	1995,6605	349.7+/-327.5	235,1525,2540	yes	missense,missense	MTA1	NM_001203258.1,NM_004689.3	29,29	244,1740,4519	AA,AG,GG		23.1977,5.2882,17.1306	benign,benign	372/431,372/716	105930406	2228,10778	2203	4300	6503	SO:0001583	missense	9112	exon13			AACAACGTCAAGG	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1114G>A	14.37:g.105930406G>A	ENSP00000333633:p.Val372Ile	Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	240	154	0.641667	NM_004689	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	655	0.2999084249084249	11	0.022357723577235773	110	0.30386740331491713	360	0.6293706293706294	174	0.22955145118733508	G	12.92	2.082237	0.36758	0.052882	0.231977	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	T;T;T;T	0.30981	1.52;1.52;1.51;1.53	4.61	1.66	0.24008	.	0.396957	0.27080	N	0.021022	T	0.00012	0.0000	N	0.22421	0.69	0.09310	P	0.99999999865637	B;B	0.31274	0.164;0.317	B;B	0.26202	0.036;0.067	T	0.36187	-0.9758	9	0.36615	T	0.2	-21.1079	7.0619	0.25131	0.1661:0.1403:0.6937:0.0	rs4983413;rs60510827;rs4983413	164;372	Q59FW1;Q13330	.;MTA1_HUMAN	I	281;372;372;355;164	ENSP00000333633:V372I;ENSP00000385702:V372I;ENSP00000384180:V355I;ENSP00000394106:V164I	ENSP00000333633:V372I	V	+	1	0	MTA1	105001451	0.813000	0.29090	0.972000	0.41901	0.734000	0.41952	1.456000	0.35201	0.366000	0.24427	0.563000	0.77884	GTC	G|0.782;A|0.218	0.218	strong		0.617	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			A	105930406	G	A	105930406	3	1	23	1	0	0	0	0	1	0	0	0	9908	1145	40	1	1164	1	MTA1	14	105930406	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	313364	105930406	1419134	3459	19915										
C14orf80	283643	hgsc.bcm.edu	37	chr14	105965155	105965155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcagctgtggtgatcaggAcgctgaggagccaggaggcc	19	9	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr14:105965155A>G	ENST00000392523.4	+	9	1481	c.1360A>G	c.(1360-1362)Acg>Gcg	p.T454A	C14orf80_ENST00000334656.7_Missense_Mutation_p.T311A|C14orf80_ENST00000392522.3_Missense_Mutation_p.T385A|C14orf80_ENST00000329886.7_Missense_Mutation_p.T313A|C14orf80_ENST00000450383.1_Missense_Mutation_p.T207A|C14orf80_ENST00000354560.6_Missense_Mutation_p.T352A|C14orf80_ENST00000392527.1_Missense_Mutation_p.T311A			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	454										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		GGTGATCAGGACGCTGAGGAG	0.701																																					p.T385A		Atlas-SNP	.											C14orf80_ENST00000392522,NS,carcinoma,-2,2	C14orf80	19	2	0			c.A1153G						scavenged	.						36	36	36					14																	105965155		2187	4294	6481	SO:0001583	missense	283643	exon8			ATCAGGACGCTGA		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.1360A>G	14.37:g.105965155A>G	ENSP00000376308:p.Thr454Ala	Somatic	500	4	0.008		WXS	Illumina HiSeq	Phase_I	566	9	0.0159011	NM_001134875	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	ENST00000392523.4	37		.	.	.	.	.	.	.	.	.	.	.	0.012	-1.677822	0.00751	.	.	ENSG00000185347	ENST00000329886;ENST00000392527;ENST00000334656;ENST00000392522;ENST00000392523;ENST00000354560;ENST00000548920;ENST00000450383	.	.	.	3.39	-2.87	0.05700	.	2.250380	0.02325	N	0.073370	T	0.15869	0.0382	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B	0.12630	0.001;0.0;0.001;0.006;0.001;0.002	B;B;B;B;B;B	0.13407	0.003;0.001;0.002;0.009;0.002;0.002	T	0.08411	-1.0723	9	0.09843	T	0.71	-0.0281	0.8271	0.01123	0.3974:0.162:0.2779:0.1627	.	333;352;385;454;311;313	C9JZD4;Q86SX3-2;E9PAQ4;Q86SX3;B5MDG3;Q86SX3-3	.;.;.;CN080_HUMAN;.;.	A	313;311;311;385;454;352;314;207	.	ENSP00000333010:T313A	T	+	1	0	C14orf80	105036200	0.002000	0.14202	0.000000	0.03702	0.077000	0.17291	0.152000	0.16302	-0.251000	0.09542	0.260000	0.18958	ACG	.	.	none		0.701	C14orf80-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409090.1	NM_001134875		G	105965155	A	G	105965155	3	3	23	1	0	0	0	0	1	0	0	0	1781	275	10	2	1211	2	C14orf80	14	105965155	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	34749	105965155	1384385	3460	19916										
OR4N4	283694	hgsc.bcm.edu	37	chr15	22382704	22382704	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcctactccttcattgtgGctcccaggatgttggtggac	10	12	1	0	rs62006708	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:22382704G>C	ENST00000328795.4	+	1	323	c.232G>C	c.(232-234)Gct>Cct	p.A78P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	78						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCATTGTGGCTCCCAGGAT	0.498																																					p.A78P		Atlas-SNP	.											.	OR4N4	108	.	0			c.G232C						PASS	.	G	PRO/ALA	155,4251		0,155,2048	152	143	146		232	2.3	1	15	dbSNP_129	146	1405,7195		2,1401,2897	no	missense	OR4N4	NM_001005241.2	27	2,1556,4945	CC,CG,GG		16.3372,3.5179,11.9945	benign	78/317	22382704	1560,11446	2203	4300	6503	SO:0001583	missense	283694	exon1			ATTGTGGCTCCCA	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.232G>C	15.37:g.22382704G>C	ENSP00000332500:p.Ala78Pro	Somatic	509	0	0		WXS	Illumina HiSeq	Phase_I	369	35	0.0948509	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	352	0.16117216117216118	11	0.022357723577235773	45	0.12430939226519337	99	0.17307692307692307	197	0.2598944591029024	.	3.587	-0.084346	0.07097	0.035179	0.163372	ENSG00000183706	ENST00000328795	T	0.03094	4.05	3.2	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000207	T	0.00012	0.0000	M	0.91406	3.205	0.36963	P	0.10656600000000005	B	0.12013	0.005	B	0.17433	0.018	T	0.11717	-1.0576	9	0.87932	D	0	-4.2544	8.183	0.31322	0.1273:0.0:0.8727:0.0	rs62006708	78	Q8N0Y3	OR4N4_HUMAN	P	78	ENSP00000332500:A78P	ENSP00000332500:A78P	A	+	1	0	OR4N4	19884068	0.000000	0.05858	1.000000	0.80357	0.027000	0.11550	-0.789000	0.04609	0.671000	0.31185	0.184000	0.17185	GCT	G|0.843;C|0.157	0.157	strong		0.498	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			C	22382704	G	C	22382704	3	2	23	1	0	0	0	0	1	0	0	0	11078	1203	42	4	234	4	OR4N4	15	22382704	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10		22382704	80148688	3461	19917										
NDN	4692	hgsc.bcm.edu	37	chr15	23931507	23931507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggagggccaggcctggggGtctttcttaaagaccctggc	16	11	2	1	rs2192206	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:23931507G>A	ENST00000331837.4	-	1	943	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	286	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGCCTGGGGGTCTTTCTTAA	0.602									Prader-Willi syndrome				G|||	949	0.189497	0.0083	0.3026	5008	,	,		16558	0.3482		0.2107	False		,,,				2504	0.1687				p.D286D		Atlas-SNP	.											.	NDN	79	.	0			c.C858T						PASS	.	G		198,4204		8,182,2011	28	32	30		858	-1.8	1	15	dbSNP_96	30	1867,6727		206,1455,2636	no	coding-synonymous	NDN	NM_002487.2		214,1637,4647	AA,AG,GG		21.7245,4.498,15.8895		286/322	23931507	2065,10931	2201	4297	6498	SO:0001819	synonymous_variant	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	CTGGGGGTCTTTC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.858C>T	15.37:g.23931507G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	30	8	0.266667	NM_002487	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																			G|0.810;A|0.190	0.190	strong		0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931507	G	A	23931507	2	1	23	1	0	0	0	0	0	0	0	1	10247	1252	44	2		2	NDN	15	23931507	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1548803	23931507	78599885	3462	19918										
C15orf2	23742	hgsc.bcm.edu	37	chr15	24921771	24921771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggatgtgcccggcatcttGgaaagcctgatccggatgca	13	12	1	1	rs1563102	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:24921771G>C	ENST00000329468.2	+	1	1231	c.757G>C	c.(757-759)Gga>Cga	p.G253R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	253			G -> R (in dbSNP:rs1563102). {ECO:0000269|PubMed:10783265}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCGGCATCTTGGAAAGCCTGA	0.637													G|||	1370	0.273562	0.0129	0.3516	5008	,	,		15590	0.4673		0.325	False		,,,				2504	0.318				p.G253R		Atlas-SNP	.											C15orf2,NS,carcinoma,0,2	.	.	2	0			c.G757C						scavenged	.	G	ARG/GLY	276,4128		13,250,1939	33	36	35		757	-4.1	0	15	dbSNP_88	35	2643,5955		405,1833,2061	yes	missense	C15orf2	NM_018958.2	125	418,2083,4000	CC,CG,GG		30.7397,6.267,22.4504	possibly-damaging	253/1157	24921771	2919,10083	2202	4299	6501	SO:0001583	missense	23742	exon1			CATCTTGGAAAGC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.757G>C	15.37:g.24921771G>C	ENSP00000333735:p.Gly253Arg	Somatic	104	1	0.00961538		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	638	0.29212454212454214	10	0.02032520325203252	125	0.3453038674033149	276	0.4825174825174825	227	0.2994722955145119	.	11.44	1.639244	0.29157	0.06267	0.307397	ENSG00000185823	ENST00000329468	T	0.10477	2.87	2.07	-4.13	0.03904	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	P	0.45594	0.862	P	0.51101	0.659	T	0.23655	-1.0182	8	0.10111	T	0.7	.	5.3948	0.16263	0.0:0.4581:0.2796:0.2623	rs1563102;rs3784245;rs1563102	253	Q9NZP6	CO002_HUMAN	R	253	ENSP00000333735:G253R	ENSP00000333735:G253R	G	+	1	0	C15orf2	22472864	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.085000	0.03390	-1.084000	0.03092	0.436000	0.28706	GGA	G|0.744;C|0.256	0.256	strong		0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		C	24921771	G	C	24921771	3	2	23	1	0	0	0	0	1	0	0	0	1784	1349	47	4	759	4	C15orf2	15	24921771	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	990264	24921771	77609621	3463	19919										
OCA2	4948	hgsc.bcm.edu	37	chr15	28230318	28230318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatggcccacacccgtcccCgggagagccggtatgcctgg	13	16	1	1	rs1800407	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:28230318C>T	ENST00000354638.3	-	13	1411	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	OCA2_ENST00000353809.5_Missense_Mutation_p.R395Q|OCA2_ENST00000382996.2_Missense_Mutation_p.R419Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	419			R -> Q (polymorphism associated with green/hazel eye color; dbSNP:rs1800407). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:12163334, ECO:0000269|PubMed:15889046, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:7601462}.|R -> W (in OCA2; dbSNP:rs143218168).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CACCCGTCCCCGGGAGAGCCG	0.567									Oculocutaneous Albinism				C|||	127	0.0253594	0.0015	0.0317	5008	,	,		19816	0.001		0.0755	False		,,,				2504	0.0266				p.R419Q		Atlas-SNP	.											.	OCA2	173	.	0			c.G1256A	GRCh37	CM025432	OCA2	M	rs1800407	PASS	.	C	GLN/ARG	54,4352	52.9+/-88.7	0,54,2149	95	73	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1256	4.4	0.2	15	dbSNP_89	80	669,7931	166.2+/-218.2	27,615,3658	yes	missense	OCA2	NM_000275.2	43	27,669,5807	TT,TC,CC		7.7791,1.2256,5.559	probably-damaging	419/839	28230318	723,12283	2203	4300	6503	SO:0001583	missense	4948	exon13	Familial Cancer Database		CGTCCCCGGGAGA		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1256G>A	15.37:g.28230318C>T	ENSP00000346659:p.Arg419Gln	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	51	11	0.215686	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	76	0.0347985347985348	0	0.0	15	0.04143646408839779	1	0.0017482517482517483	60	0.079155672823219	C	21.8	4.202313	0.79127	0.012256	0.077791	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.85955	-2.05;-2.05;-2.05	5.35	4.44	0.53790	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.45470	1.425	0.29970	P	0.818602	D;D	0.89917	0.994;1.0	P;D	0.75484	0.879;0.986	T	0.72953	-0.4135	9	0.36615	T	0.2	-17.4895	13.4028	0.60893	0.0:0.9242:0.0:0.0758	rs1800407;rs52791072;rs1800407	395;419	Q04671-2;Q04671	.;P_HUMAN	Q	419;395;419	ENSP00000346659:R419Q;ENSP00000261276:R395Q;ENSP00000372457:R419Q	ENSP00000261276:R395Q	R	-	2	0	OCA2	25903913	1.000000	0.71417	0.152000	0.22495	0.788000	0.44548	7.083000	0.76859	1.384000	0.46424	-0.136000	0.14681	CGG	C|0.952;T|0.048	0.048	strong		0.567	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		T	28230318	C	T	28230318	3	4	23	1	0	0	0	0	1	0	0	0	10815	652	23	1	1308	1	OCA2	15	28230318	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3308547	28230318	74301074	3464	19920										
HERC2	8924	hgsc.bcm.edu	37	chr15	28459393	28459393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagcgaggcctgcgggcgCaccctgcgccgcctcagcgt	15	17	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:28459393C>T	ENST00000261609.7	-	41	6492	c.6384G>A	c.(6382-6384)gtG>gtA	p.V2128V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGCGGGCGCACCCTGCGCC	0.672																																					p.V2128V		Atlas-SNP	.											.	HERC2	501	.	0			c.G6384A						PASS	.						24	25	25					15																	28459393		2195	4293	6488	SO:0001819	synonymous_variant	8924	exon41			CGGGCGCACCCTG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6384G>A	15.37:g.28459393C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	53	45	0.849057	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.	.	none		0.672	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28459393	C	T	28459393	2	4	23	1	0	0	0	0	0	0	0	1	7058	697	25	2		2	HERC2	15	28459393	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	229075	28459393	74071999	3465	19921										
HERC2	8924	hgsc.bcm.edu	37	chr15	28517454	28517454	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtggggcgctggtgccctgGgcggaacgctcattgtcagt	17	10	2	0	rs28457230	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:28517454G>T	ENST00000261609.7	-	9	1098	c.990C>A	c.(988-990)gcC>gcA	p.A330A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGTGCCCTGGGCGGAACGCT	0.547																																					p.A330A		Atlas-SNP	.											.	HERC2	501	.	0			c.C990A						PASS	.	G		269,4137	118.4+/-156.1	0,269,1934	69	55	59		990	0.8	1	15	dbSNP_125	59	333,8267	99.3+/-160.8	0,333,3967	no	coding-synonymous	HERC2	NM_004667.4		0,602,5901	TT,TG,GG		3.8721,6.1053,4.6286		330/4835	28517454	602,12404	2203	4300	6503	SO:0001819	synonymous_variant	8924	exon9			GCCCTGGGCGGAA	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.990C>A	15.37:g.28517454G>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	118	43	0.364407	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			G|0.938;T|0.062	0.062	strong		0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28517454	G	T	28517454	2	4	23	1	0	0	0	0	0	0	0	1	7058	1219	43	4		4	HERC2	15	28517454	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	58061	28517454	74013938	3466	19922										
APBA2	321	hgsc.bcm.edu	37	chr15	29368269	29368269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctaacagacaaagaaggtGgcatcatttccaagttttgt	8	8	1	2	rs149285403	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:29368269G>A	ENST00000558402.1	+	7	1643	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	APBA2_ENST00000561069.1_Silent_p.V348V|APBA2_ENST00000558259.1_Silent_p.V348V|APBA2_ENST00000411764.1_Silent_p.V348V|APBA2_ENST00000558330.1_Silent_p.V348V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	348					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAAGAAGGTGGCATCATTTC	0.378																																					p.V348V		Atlas-SNP	.											.	APBA2	132	.	0			c.G1044A						PASS	.	G	,	2,4404	4.2+/-10.8	0,2,2201	185	185	185		1044,1044	3.9	1	15	dbSNP_134	185	18,8582	13.3+/-46.6	0,18,4282	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,20,6483	AA,AG,GG		0.2093,0.0454,0.1538	,	348/738,348/750	29368269	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	321	exon5			GAAGGTGGCATCA	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1044G>A	15.37:g.29368269G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	95	76	0.8	NM_005503	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			G|0.999;A|0.001	0.001	strong		0.378	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		A	29368269	G	A	29368269	2	1	23	1	0	0	0	0	0	0	0	1	757	1335	47	2		2	APBA2	15	29368269	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	850815	29368269	73163123	3467	19923										
TJP1	7082	hgsc.bcm.edu	37	chr15	30008889	30008889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctcggagagatggctggcGgcaatgtgtgcaggaggctt	19	7	0	1	rs2229518	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:30008889G>A	ENST00000346128.6	-	23	4602	c.4128C>T	c.(4126-4128)gcC>gcT	p.A1376A	TJP1_ENST00000545208.2_Silent_p.A1296A|TJP1_ENST00000356107.6_Silent_p.A1376A|TJP1_ENST00000400011.2_Silent_p.A1300A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1376					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGCTGGCGGCAATGTGTG	0.403													G|||	3940	0.786741	0.6437	0.8242	5008	,	,		16060	0.8641		0.8241	False		,,,				2504	0.8354				p.A1376A	Melanoma(77;681 1843 6309 6570)	Atlas-SNP	.											.	TJP1	140	.	0			c.C4128T						PASS	.	G	,	2624,1138		915,794,172	81	84	83		4128,3888	-0.7	0.4	15	dbSNP_98	83	6894,1354		2887,1120,117	no	coding-synonymous,coding-synonymous	TJP1	NM_003257.3,NM_175610.2	,	3802,1914,289	AA,AG,GG		16.4161,30.2499,20.7494	,	1376/1749,1296/1669	30008889	9518,2492	1881	4124	6005	SO:0001819	synonymous_variant	7082	exon23			GCTGGCGGCAATG		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4128C>T	15.37:g.30008889G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_003257	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																			G|0.213;A|0.787	0.787	strong		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30008889	G	A	30008889	2	1	23	1	0	0	0	0	0	0	0	1	15926	1103	39	1		1	TJP1	15	30008889	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	640620	30008889	72522503	3468	19924										
TJP1	7082	hgsc.bcm.edu	37	chr15	30026582	30026582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatttgtaaaatctacgttgTttacctaataaataagattt	4	4	1	1	rs2229517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:30026582T>C	ENST00000346128.6	-	12	1886	c.1412A>G	c.(1411-1413)aAc>aGc	p.N471S	TJP1_ENST00000545208.2_Missense_Mutation_p.N471S|TJP1_ENST00000356107.6_Missense_Mutation_p.N471S|TJP1_ENST00000400011.2_Missense_Mutation_p.N475S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	471	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.		N -> S (in dbSNP:rs2229517). {ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCTACGTTGTTTACCTAATA	0.348													T|||	24	0.00479233	0.003	0.0014	5008	,	,		17609	0.0		0.0109	False		,,,				2504	0.0082				p.N471S	Melanoma(77;681 1843 6309 6570)	Atlas-SNP	.											.	TJP1	140	.	0			c.A1412G						PASS	.	T	SER/ASN,SER/ASN	7,3635		0,7,1814	99	89	92		1412,1412	5.4	1	15	dbSNP_98	92	108,8050		0,108,3971	yes	missense,missense	TJP1	NM_003257.3,NM_175610.2	46,46	0,115,5785	CC,CT,TT		1.3239,0.1922,0.9746	benign,benign	471/1749,471/1669	30026582	115,11685	1821	4079	5900	SO:0001583	missense	7082	exon12			ACGTTGTTTACCT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1412A>G	15.37:g.30026582T>C	ENSP00000281537:p.Asn471Ser	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	61	43	0.704918	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	16	0.007326007326007326	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	11	0.014511873350923483	T	16.63	3.176786	0.57692	0.001922	0.013239	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.36	5.36	0.76844	Src homology-3 domain (1);PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.85945	2.785	0.80722	D	1	B;D;B;D	0.89917	0.009;1.0;0.009;0.998	B;D;B;D	0.87578	0.04;0.998;0.04;0.994	T	0.79434	-0.1805	9	.	.	.	.	15.6385	0.76977	0.0:0.0:0.0:1.0	rs2229517;rs45612033	464;471;471;475	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	S	471;475;471;471;471	ENSP00000281537:N471S;ENSP00000382890:N475S;ENSP00000441202:N471S;ENSP00000348416:N471S	.	N	-	2	0	TJP1	27813874	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.997000	0.88414	2.147000	0.66899	0.477000	0.44152	AAC	T|0.991;C|0.009	0.009	strong		0.348	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	30026582	T	C	30026582	3	2	23	1	0	0	0	0	1	0	0	0	15926	1725	60	2	3902	2	TJP1	15	30026582	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	17693	30026582	72504810	3469	19925										
RYR3	6263	hgsc.bcm.edu	37	chr15	34015013	34015013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggggtgaggggggaaacggGctcttggcagccatgcaggg	21	8	1	1	rs2293027	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:34015013G>A	ENST00000389232.4	+	44	6787	c.6717G>A	c.(6715-6717)ggG>ggA	p.G2239G	RYR3_ENST00000415757.3_Silent_p.G2239G|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2239	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGAAACGGGCTCTTGGCAG	0.572													G|||	807	0.161142	0.0772	0.0965	5008	,	,		17079	0.2351		0.1859	False		,,,				2504	0.2188				p.G2239G		Atlas-SNP	.											RYR3,NS,carcinoma,+2,1	RYR3	760	1	0			c.G6717A						PASS	.	G		341,3615		17,307,1654	84	93	90		6717	-7.1	0	15	dbSNP_100	90	1529,6757		153,1223,2767	no	coding-synonymous	RYR3	NM_001036.3		170,1530,4421	AA,AG,GG		18.4528,8.6198,15.2753		2239/4871	34015013	1870,10372	1978	4143	6121	SO:0001819	synonymous_variant	6263	exon44			AAACGGGCTCTTG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6717G>A	15.37:g.34015013G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	83	28	0.337349	NM_001243996	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			G|0.841;A|0.159	0.159	strong		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34015013	G	A	34015013	2	1	23	1	0	0	0	0	0	0	0	1	13770	1190	42	2		2	RYR3	15	34015013	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3988431	34015013	68516379	3470	19926										
SLC12A6	9990	hgsc.bcm.edu	37	chr15	34542872	34542872	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggcaaggatagtaccaatCggaatagacttctgagcatc	10	8	1	2	rs17236798	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:34542872C>G	ENST00000354181.3	-	12	2043	c.1551G>C	c.(1549-1551)ccG>ccC	p.P517P	SLC12A6_ENST00000558589.1_Silent_p.P508P|SLC12A6_ENST00000560164.1_Silent_p.P329P|SLC12A6_ENST00000451844.2_Silent_p.P329P|SLC12A6_ENST00000397707.2_Silent_p.P502P|SLC12A6_ENST00000558667.1_Silent_p.P517P|SLC12A6_ENST00000458406.2_Silent_p.P458P|SLC12A6_ENST00000397702.2_Silent_p.P458P|SLC12A6_ENST00000560611.1_Silent_p.P517P|SLC12A6_ENST00000290209.5_Silent_p.P466P			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	517					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAGTACCAATCGGAATAGACT	0.418													G|||	1038	0.207268	0.1263	0.2017	5008	,	,		19869	0.2827		0.2068	False		,,,				2504	0.2434				p.P517P		Atlas-SNP	.											.	SLC12A6	205	.	0			c.G1551C						PASS	.	G	,,,,,	563,3839	773.7+/-414.0	36,491,1674	124	116	119		1374,1374,1524,1506,1398,1551	3	1	15	dbSNP_123	119	1465,7131	749.9+/-407.4	123,1219,2956	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	,,,,,	159,1710,4630	GG,GC,CC		17.0428,12.7896,15.6024	,,,,,	458/1092,458/1092,508/1142,502/1136,466/1100,517/1151	34542872	2028,10970	2201	4298	6499	SO:0001819	synonymous_variant	9990	exon11			ACCAATCGGAATA	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1551G>C	15.37:g.34542872C>G		Somatic	326	0	0		WXS	Illumina HiSeq	Phase_I	211	154	0.729858	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																			C|0.822;G|0.178	0.178	strong		0.418	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		G	34542872	C	G	34542872	2	3	23	1	0	0	0	0	0	0	0	1	14387	871	31	4		4	SLC12A6	15	34542872	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	527859	34542872	67988520	3471	19927										
SLC12A6	9990	hgsc.bcm.edu	37	chr15	34544468	34544468	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcattgaaaaattgactCgagttacagaagaatcccca	9	8	0	4	rs2290940	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:34544468C>T	ENST00000354181.3	-	10	1728	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	SLC12A6_ENST00000558589.1_Silent_p.S403S|SLC12A6_ENST00000560164.1_Silent_p.S224S|SLC12A6_ENST00000451844.2_Silent_p.S224S|SLC12A6_ENST00000397707.2_Silent_p.S397S|SLC12A6_ENST00000558667.1_Silent_p.S412S|SLC12A6_ENST00000458406.2_Silent_p.S353S|SLC12A6_ENST00000397702.2_Silent_p.S353S|SLC12A6_ENST00000560611.1_Silent_p.S412S|SLC12A6_ENST00000290209.5_Silent_p.S361S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	412					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAAATTGACTCGAGTTACAGA	0.408													C|||	1036	0.206869	0.1256	0.2003	5008	,	,		19669	0.2827		0.2068	False		,,,				2504	0.2434				p.S412S		Atlas-SNP	.											.	SLC12A6	205	.	0			c.G1236A						PASS	.	C	,,,,,	550,3852	247.5+/-255.7	34,482,1685	128	114	119		1059,1059,1209,1191,1083,1236	-6.2	0.9	15	dbSNP_100	119	1466,7130	280.5+/-294.5	124,1218,2956	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	,,,,,	158,1700,4641	TT,TC,CC		17.0544,12.4943,15.5101	,,,,,	353/1092,353/1092,403/1142,397/1136,361/1100,412/1151	34544468	2016,10982	2201	4298	6499	SO:0001819	synonymous_variant	9990	exon9			TTGACTCGAGTTA	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1236G>A	15.37:g.34544468C>T		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	162	108	0.666667	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																			C|0.821;T|0.179	0.179	strong		0.408	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		T	34544468	C	T	34544468	2	4	23	1	0	0	0	0	0	0	0	1	14387	871	31	1		1	SLC12A6	15	34544468	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1596	34544468	67986924	3472	19928										
SLC12A6	9990	hgsc.bcm.edu	37	chr15	34551082	34551082	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctttgctccttgagtcaGattagtgtaattggccatgc	9	9	1	2	rs7164902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:34551082G>A	ENST00000354181.3	-	5	967	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	SLC12A6_ENST00000558589.1_Silent_p.L150L|SLC12A6_ENST00000560164.1_Silent_p.L20L|SLC12A6_ENST00000451844.2_Silent_p.L20L|SLC12A6_ENST00000397707.2_Silent_p.L144L|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558667.1_Silent_p.L159L|SLC12A6_ENST00000458406.2_Silent_p.L100L|SLC12A6_ENST00000397702.2_Silent_p.L100L|SLC12A6_ENST00000560611.1_Silent_p.L159L|SLC12A6_ENST00000290209.5_Silent_p.L108L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	159					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTTGAGTCAGATTAGTGTAA	0.448													G|||	1386	0.276757	0.1982	0.2161	5008	,	,		18454	0.3542		0.2406	False		,,,				2504	0.3834				p.L159L		Atlas-SNP	.											.	SLC12A6	205	.	0			c.C475T						PASS	.	G	,,,,,	951,3451	361.4+/-315.7	105,741,1355	231	217	222		298,298,448,430,322,475	2.8	1	15	dbSNP_116	222	2092,6504	361.6+/-332.4	259,1574,2465	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	,,,,,	364,2315,3820	AA,AG,GG		24.3369,21.6038,23.4113	,,,,,	100/1092,100/1092,150/1142,144/1136,108/1100,159/1151	34551082	3043,9955	2201	4298	6499	SO:0001819	synonymous_variant	9990	exon4			GAGTCAGATTAGT	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.475C>T	15.37:g.34551082G>A		Somatic	439	1	0.0022779		WXS	Illumina HiSeq	Phase_I	237	185	0.780591	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																			G|0.751;A|0.249	0.249	strong		0.448	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		A	34551082	G	A	34551082	2	1	23	1	0	0	0	0	0	0	0	1	14387	933	33	2		2	SLC12A6	15	34551082	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6614	34551082	67980310	3473	19929										
C15orf41	84529	hgsc.bcm.edu	37	chr15	36989578	36989578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttgcttctagagaaaaaCctgtccttcctaggtaagta	8	9	1	1	rs117638434	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:36989578C>T	ENST00000566621.1	+	8	781	c.531C>T	c.(529-531)aaC>aaT	p.N177N	C15orf41_ENST00000567389.1_Silent_p.N79N|C15orf41_ENST00000338183.4_Silent_p.N79N|C15orf41_ENST00000562877.1_Silent_p.N79N|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Silent_p.N177N|C15orf41_ENST00000569302.1_Silent_p.N177N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	177										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TAGAGAAAAACCTGTCCTTCC	0.408													C|||	22	0.00439297	0.0	0.0014	5008	,	,		15677	0.0		0.0209	False		,,,				2504	0.0				p.N177N		Atlas-SNP	.											.	C15orf41	24	.	0			c.C531T						PASS	.	C	,	17,3791		0,17,1887	183	184	184		531,237	-0.8	1	15	dbSNP_132	184	99,8177		1,97,4040	no	coding-synonymous,coding-synonymous	C15orf41	NM_001130010.1,NM_032499.4	,	1,114,5927	TT,TC,CC		1.1962,0.4464,0.9599	,	177/282,79/184	36989578	116,11968	1904	4138	6042	SO:0001819	synonymous_variant	84529	exon8			GAAAAACCTGTCC	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.531C>T	15.37:g.36989578C>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	110	84	0.763636	NM_001130010	B2RD87	Silent	SNP	ENST00000566621.1	37	CCDS45215.1																																																																																			C|0.992;T|0.008	0.008	strong		0.408	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		T	36989578	C	T	36989578	2	4	23	1	0	0	0	0	0	0	0	1	1795	506	18	2		2	C15orf41	15	36989578	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2438496	36989578	65541814	3474	19930										
RASGRP1	10125	hgsc.bcm.edu	37	chr15	38794566	38794566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaactcgcagcaatcttttcAaattcttcctgagaaatgta	5	9	3	1	rs12324402	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:38794566A>G	ENST00000310803.5	-	12	1662	c.1485T>C	c.(1483-1485)ttT>ttC	p.F495F	RASGRP1_ENST00000450598.2_Silent_p.F460F|RASGRP1_ENST00000559830.1_Silent_p.F460F|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000558164.1_Silent_p.F460F|RASGRP1_ENST00000539159.1_Silent_p.F447F|RASGRP1_ENST00000561180.1_Silent_p.F546F	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	495	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAATCTTTTCAAATTCTTCCT	0.403													A|||	863	0.172324	0.1853	0.1787	5008	,	,		18857	0.006		0.2624	False		,,,				2504	0.229				p.F495F		Atlas-SNP	.											.	RASGRP1	50	.	0			c.T1485C						PASS	.	A	,	721,2949		69,583,1183	90	81	84		1380,1485	5	1	15	dbSNP_120	84	2142,6046		282,1578,2234	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	351,2161,3417	GG,GA,AA		26.1602,19.6458,24.144	,	460/763,495/798	38794566	2863,8995	1835	4094	5929	SO:0001819	synonymous_variant	10125	exon12			CTTTTCAAATTCT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1485T>C	15.37:g.38794566A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	80	61	0.7625	NM_005739	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	CCDS45222.1																																																																																			A|0.833;G|0.167	0.167	strong		0.403	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		G	38794566	A	G	38794566	2	3	23	1	0	0	0	0	0	0	0	1	13074	127	5	2		2	RASGRP1	15	38794566	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1804988	38794566	63736826	3475	19931										
THBS1	7057	hgsc.bcm.edu	37	chr15	39880818	39880818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtagtcgtctctgcaacaaCcccacaccccagtttggagg	9	15	1	0	rs41338344	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:39880818C>T	ENST00000260356.5	+	10	1728	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	521	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCTGCAACAACCCCACACCCC	0.537													C|||	64	0.0127796	0.003	0.0274	5008	,	,		20155	0.0		0.0318	False		,,,				2504	0.0092				p.N521N		Atlas-SNP	.											.	THBS1	106	.	0			c.C1563T						PASS	.	C		34,4366	39.2+/-71.8	0,34,2166	94	89	91		1563	4.8	1	15	dbSNP_127	91	301,8293	109.6+/-170.1	4,293,4000	no	coding-synonymous	THBS1	NM_003246.2		4,327,6166	TT,TC,CC		3.5024,0.7727,2.5781		521/1171	39880818	335,12659	2200	4297	6497	SO:0001819	synonymous_variant	7057	exon10			CAACAACCCCACA		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1563C>T	15.37:g.39880818C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	54	15	0.277778	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																			C|0.975;T|0.025	0.025	strong		0.537	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39880818	C	T	39880818	2	4	23	1	0	0	0	0	0	0	0	1	15850	506	18	2		2	THBS1	15	39880818	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1086252	39880818	62650574	3476	19932										
SRP14	6727	hgsc.bcm.edu	37	chr15	40330518	40330518	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcttcccatcggtagctcTtaacagacacttgttgtctg	7	12	3	1	rs1059395	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40330518T>G	ENST00000267884.6	-	3	246	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_Silent_p.R59R	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	59					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TCGGTAGCTCTTAACAGACAC	0.463													T|||	489	0.0976438	0.0953	0.1023	5008	,	,		19815	0.0248		0.175	False		,,,				2504	0.093				p.R59R		Atlas-SNP	.											.	SRP14	11	.	0			c.A175C						PASS	.	T		430,3368		21,388,1490	122	115	117		175	3.7	1	15	dbSNP_86	117	1465,6767		122,1221,2773	no	coding-synonymous	SRP14	NM_003134.4		143,1609,4263	GG,GT,TT		17.7964,11.3217,15.7523		59/137	40330518	1895,10135	1899	4116	6015	SO:0001819	synonymous_variant	6727	exon3			TAGCTCTTAACAG		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.175A>C	15.37:g.40330518T>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	56	22	0.392857	NM_003134	B5BUF5|Q6B0K5|Q96Q14	Silent	SNP	ENST00000267884.6	37	CCDS42017.1																																																																																			T|0.867;G|0.133	0.133	strong		0.463	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		G	40330518	T	G	40330518	2	3	23	1	0	0	0	0	0	0	0	1	15152	1617	56	5		5	SRP14	15	40330518	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	449700	40330518	62200874	3477	19933										
C15orf52	388115	hgsc.bcm.edu	37	chr15	40627845	40627845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcggccctgctccatcccGctctgcttctgggcttgctc	10	17	2	0	rs55641696	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40627845G>A	ENST00000559313.1	-	11	1134	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	C15orf52_ENST00000397536.2_Silent_p.S163S	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	373							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCCATCCCGCTCTGCTTCT	0.647													G|||	733	0.146366	0.0855	0.1686	5008	,	,		17103	0.0278		0.2803	False		,,,				2504	0.1973				p.S373S		Atlas-SNP	.											.	C15orf52	47	.	0			c.C1119T						PASS	.	G		443,3913		25,393,1760	43	44	44		1119	0.1	0	15	dbSNP_129	44	2221,6283		313,1595,2344	no	coding-synonymous	C15orf52	NM_207380.2		338,1988,4104	AA,AG,GG		26.1171,10.1699,20.7154		373/535	40627845	2664,10196	2178	4252	6430	SO:0001819	synonymous_variant	388115	exon11			CATCCCGCTCTGC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1119C>T	15.37:g.40627845G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	62	50	0.806452	NM_207380	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	CCDS10055.2																																																																																			G|0.836;A|0.164	0.164	strong		0.647	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		A	40627845	G	A	40627845	2	1	23	1	0	0	0	0	0	0	0	1	1800	1078	38	1		1	C15orf52	15	40627845	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	297327	40627845	61903547	3478	19934										
C15orf52	388115	hgsc.bcm.edu	37	chr15	40629995	40629995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctctgtgccgggcgaggcGggctaggtcgatctgctccc	16	13	2	0	rs149438052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40629995G>A	ENST00000559313.1	-	6	760	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	C15orf52_ENST00000397536.2_Missense_Mutation_p.R39C|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	249							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CGGGCGAGGCGGGCTAGGTCG	0.711																																					p.R249C		Atlas-SNP	.											.	C15orf52	47	.	0			c.C745T						PASS	.						23	24	24					15																	40629995		2202	4298	6500	SO:0001583	missense	388115	exon6			CGAGGCGGGCTAG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.745C>T	15.37:g.40629995G>A	ENSP00000453969:p.Arg249Cys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	48	18	0.375	NM_207380	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764787	0.90020	.	.	ENSG00000188549	ENST00000382688;ENST00000397536;ENST00000397535	T	0.72942	-0.7	4.63	4.63	0.57726	.	0.092822	0.45867	D	0.000338	D	0.82637	0.5080	M	0.74258	2.255	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.84930	0.0859	10	0.87932	D	0	-13.7074	12.996	0.58646	0.0:0.0:1.0:0.0	.	39;181;249	Q6ZUT6-2;Q6ZUT6-3;Q6ZUT6	.;.;CO052_HUMAN	C	249;39;181	ENSP00000380670:R39C	ENSP00000372135:R249C	R	-	1	0	C15orf52	38417287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.805000	0.38883	2.097000	0.63578	0.563000	0.77884	CGC	A|0.001;G|0.999	0.001	strong		0.711	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		A	40629995	G	A	40629995	3	1	23	1	0	0	0	0	1	0	0	0	1800	1116	39	1	883	1	C15orf52	15	40629995	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2150	40629995	61901397	3479	19935										
DISP2	85455	hgsc.bcm.edu	37	chr15	40655845	40655845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacccagaccaaggctgtgCcccctgaggcaagcccagag	12	16	0	3	rs1898883	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40655845C>G	ENST00000267889.3	+	2	226	c.139C>G	c.(139-141)Ccc>Gcc	p.P47A		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	47			P -> A (in dbSNP:rs1898883). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.		smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAAGGCTGTGCCCCCTGAGGC	0.607													G|||	3636	0.726038	0.6717	0.7435	5008	,	,		16518	0.8274		0.6292	False		,,,				2504	0.7822				p.P47A		Atlas-SNP	.											.	DISP2	86	.	0			c.C139G						PASS	.	G	ALA/PRO	2942,1464	458.6+/-352.0	995,952,256	87	102	97		139	4.3	1	15	dbSNP_92	97	5671,2929	442.1+/-360.0	1882,1907,511	yes	missense	DISP2	NM_033510.1	27	2877,2859,767	GG,GC,CC		34.0581,33.2274,33.7767	benign	47/1402	40655845	8613,4393	2203	4300	6503	SO:0001583	missense	85455	exon2			GCTGTGCCCCCTG	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.139C>G	15.37:g.40655845C>G	ENSP00000267889:p.Pro47Ala	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	41	35	0.853659	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	1598	0.7316849816849816	344	0.6991869918699187	264	0.7292817679558011	492	0.8601398601398601	498	0.6569920844327177	G	1.819	-0.472695	0.04445	0.667726	0.659419	ENSG00000140323	ENST00000267889	T	0.09445	2.98	5.17	4.26	0.50523	.	0.609132	0.17398	N	0.175676	T	0.00012	0.0000	N	0.00926	-1.1	0.58432	P	8.000000000008E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	9	0.02654	T	1	-16.6771	8.2234	0.31554	0.0839:0.1579:0.7582:0.0	rs1898883;rs1898883	47	A7MBM2	DISP2_HUMAN	A	47	ENSP00000267889:P47A	ENSP00000267889:P47A	P	+	1	0	DISP2	38443137	0.981000	0.34729	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	0.783000	0.33636	-0.215000	0.12644	CCC	C|0.308;G|0.692	0.692	strong		0.607	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		G	40655845	C	G	40655845	3	3	23	1	0	0	0	0	1	0	0	0	4540	739	26	4	145	4	DISP2	15	40655845	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25850	40655845	61875547	3480	19936										
DISP2	85455	hgsc.bcm.edu	37	chr15	40660566	40660566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttcgagcgcttcgacgcGgagtatcgccagctgttcct	11	15	0	0	rs72733420	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40660566G>A	ENST00000267889.3	+	8	2340	c.2253G>A	c.(2251-2253)gcG>gcA	p.A751A	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	751					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTTCGACGCGGAGTATCGCC	0.721													G|||	543	0.108427	0.087	0.1354	5008	,	,		11032	0.0188		0.1968	False		,,,				2504	0.1196				p.A751A		Atlas-SNP	.											DISP2,NS,carcinoma,0,1	DISP2	86	1	0			c.G2253A						PASS	.	G		423,3975		25,373,1801	24	28	26		2253	-9.6	0	15	dbSNP_132	26	1823,6771		193,1437,2667	no	coding-synonymous	DISP2	NM_033510.1		218,1810,4468	AA,AG,GG		21.2125,9.618,17.2876		751/1402	40660566	2246,10746	2199	4297	6496	SO:0001819	synonymous_variant	85455	exon8			CGACGCGGAGTAT	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2253G>A	15.37:g.40660566G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	31	31	1	NM_033510	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			G|0.847;A|0.153	0.153	strong		0.721	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		A	40660566	G	A	40660566	2	1	23	1	0	0	0	0	0	0	0	1	4540	1103	39	1		1	DISP2	15	40660566	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4721	40660566	61870826	3481	19937										
IVD	3712	hgsc.bcm.edu	37	chr15	40705225	40705225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcacctctaagaagctggaCaagctggggatgaggggctc	15	9	1	2	rs2229312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:40705225C>T	ENST00000249760.2	+	7	1066	c.723C>T	c.(721-723)gaC>gaT	p.D241D	IVD_ENST00000487418.2_Silent_p.D244D|IVD_ENST00000479013.2_Silent_p.D214D	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	241					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	AGAAGCTGGACAAGCTGGGGA	0.527													C|||	396	0.0790735	0.0696	0.0821	5008	,	,		21832	0.0129		0.1421	False		,,,				2504	0.093				p.D244D	GBM(31;293 617 7486 32527 34655)	Atlas-SNP	.											.	IVD	29	.	0			c.C732T						PASS	.	C	,	367,4039	185.7+/-212.7	15,337,1851	97	92	94		642,732	5.7	1	15	dbSNP_98	94	1178,7422	240.3+/-271.1	81,1016,3203	no	coding-synonymous,coding-synonymous	IVD	NM_001159508.1,NM_002225.3	,	96,1353,5054	TT,TC,CC		13.6977,8.3296,11.8791	,	214/397,244/427	40705225	1545,11461	2203	4300	6503	SO:0001819	synonymous_variant	3712	exon7			GCTGGACAAGCTG	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.723C>T	15.37:g.40705225C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	100	68	0.68	NM_002225	B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Silent	SNP	ENST00000249760.2	37		204	0.09340659340659341	36	0.07317073170731707	35	0.09668508287292818	5	0.008741258741258742	128	0.16886543535620052	C	8.979	0.974946	0.18736	0.083296	0.136977	ENSG00000128928	ENST00000473112	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.18366	-1.0339	3	.	.	.	.	7.4079	0.27001	0.0:0.7999:0.0:0.2001	rs2229312;rs34751404	.	.	.	I	161	.	.	T	+	2	0	IVD	38492517	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.420000	0.21263	2.673000	0.90976	0.591000	0.81541	ACA	C|0.887;T|0.113	0.113	strong		0.527	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	40705225	C	T	40705225	2	4	23	1	0	0	0	0	0	0	0	1	7928	477	17	2		2	IVD	15	40705225	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	44659	40705225	61826167	3482	19938										
NDUFAF1	51103	hgsc.bcm.edu	37	chr15	41679685	41679685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctctggagaattttcatagGcaaattcttctgtatgagct	9	7	4	2	rs12900702	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:41679685G>C	ENST00000260361.4	-	5	1322	c.941C>G	c.(940-942)gCc>gGc	p.A314G		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	314			A -> G (in dbSNP:rs12900702). {ECO:0000269|PubMed:11935339}.		mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		ATTTTCATAGGCAAATTCTTC	0.358													G|||	361	0.0720847	0.0121	0.111	5008	,	,		15415	0.0		0.1849	False		,,,				2504	0.0838				p.A314G		Atlas-SNP	.											.	NDUFAF1	39	.	0			c.C941G						PASS	.	G	GLY/ALA	163,4243	108.2+/-146.6	5,153,2045	78	87	84		941	5.6	1	15	dbSNP_121	84	1634,6966	299.4+/-304.4	153,1328,2819	yes	missense	NDUFAF1	NM_016013.2	60	158,1481,4864	CC,CG,GG		19.0,3.6995,13.8167	probably-damaging	314/328	41679685	1797,11209	2203	4300	6503	SO:0001583	missense	51103	exon5			TCATAGGCAAATT	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.941C>G	15.37:g.41679685G>C	ENSP00000260361:p.Ala314Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	100	27	0.27	NM_016013	Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	193	0.08836996336996338	5	0.01016260162601626	47	0.1298342541436464	0	0.0	141	0.18601583113456466	G	32	5.189559	0.94923	0.036995	0.19	ENSG00000137806	ENST00000260361	T	0.65178	-0.14	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.00271	0.0008	M	0.71871	2.18	0.09310	P	0.99999999756846	P	0.52316	0.952	P	0.51895	0.683	T	0.00403	-1.1761	9	0.72032	D	0.01	-22.3975	19.5923	0.95520	0.0:0.0:1.0:0.0	rs12900702;rs52792714;rs12900702	314	Q9Y375	CIA30_HUMAN	G	314	ENSP00000260361:A314G	ENSP00000260361:A314G	A	-	2	0	NDUFAF1	39466977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.859000	0.92264	2.644000	0.89710	0.557000	0.71058	GCC	G|0.873;C|0.127	0.127	strong		0.358	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		C	41679685	G	C	41679685	3	2	23	1	0	0	0	0	1	0	0	0	10274	1203	42	4	46	4	NDUFAF1	15	41679685	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	974460	41679685	60851707	3483	19939										
LTK	4058	hgsc.bcm.edu	37	chr15	41805237	41805237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcgctgactttcgggtccCgggggctgggacttgccagc	18	12	0	1	rs2305030	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:41805237C>T	ENST00000263800.6	-	2	221	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	LTK_ENST00000355166.5_Missense_Mutation_p.R42Q|LTK_ENST00000453182.2_Missense_Mutation_p.R42Q|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	42			R -> Q (in dbSNP:rs2305030). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:7685902}.		cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTTCGGGTCCCGGGGGCTGGG	0.627										TSP Lung(18;0.14)			C|||	781	0.15595	0.0893	0.1354	5008	,	,		13698	0.4038		0.0825	False		,,,				2504	0.0808				p.R42Q		Atlas-SNP	.											.	LTK	117	.	0			c.G125A						PASS	.	C	GLN/ARG,GLN/ARG,GLN/ARG	405,3993		20,365,1814	19	24	23		125,125,125	-6.4	0	15	dbSNP_100	23	917,7675		39,839,3418	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	43,43,43	59,1204,5232	TT,TC,CC		10.6727,9.2087,10.1771	benign,benign,benign	42/735,42/865,42/804	41805237	1322,11668	2199	4296	6495	SO:0001583	missense	4058	exon2			GGGTCCCGGGGGC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.125G>A	15.37:g.41805237C>T	ENSP00000263800:p.Arg42Gln	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	44	29	0.659091	NM_001135685	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	371	0.16987179487179488	38	0.07723577235772358	53	0.1464088397790055	223	0.38986013986013984	57	0.07519788918205805	C	10.85	1.466746	0.26335	0.092087	0.106727	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.75367	-0.93;-0.71;-0.88	4.31	-6.41	0.01938	.	1.621950	0.04291	N	0.345471	T	0.00012	0.0000	N	0.03115	-0.41	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.04128	-1.0975	9	0.20046	T	0.44	.	3.33	0.07080	0.106:0.3338:0.1054:0.4549	rs2305030;rs52810035;rs59038632;rs2305030	42;42;42	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	Q	42	ENSP00000347293:R42Q;ENSP00000263800:R42Q;ENSP00000392196:R42Q	ENSP00000263800:R42Q	R	-	2	0	LTK	39592529	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.907000	0.04067	-1.564000	0.01678	-2.614000	0.00158	CGG	C|0.858;T|0.142	0.142	strong		0.627	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			T	41805237	C	T	41805237	3	4	23	1	0	0	0	0	1	0	0	0	9080	652	23	1	2545	1	LTK	15	41805237	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	125552	41805237	60726155	3484	19940										
RPAP1	26015	hgsc.bcm.edu	37	chr15	41827757	41827757	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttccccaactgatgggcccTtggcttcagctatcctcctt	7	16	1	1	rs2297382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:41827757T>A	ENST00000304330.4	-	5	610	c.494A>T	c.(493-495)aAg>aTg	p.K165M	RPAP1_ENST00000561603.1_Missense_Mutation_p.K165M|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	165			K -> M (in dbSNP:rs2297382).			nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGATGGGCCCTTGGCTTCAGC	0.522													T|||	712	0.142173	0.4017	0.0922	5008	,	,		19046	0.0149		0.0537	False		,,,				2504	0.0491				p.K165M		Atlas-SNP	.											.	RPAP1	111	.	0			c.A494T						PASS	.	T	MET/LYS	1534,2872	485.8+/-360.4	251,1032,920	88	89	89		494	-2.5	0	15	dbSNP_100	89	517,8083	145.1+/-200.9	12,493,3795	yes	missense	RPAP1	NM_015540.2	95	263,1525,4715	AA,AT,TT		6.0116,34.8162,15.7696	benign	165/1394	41827757	2051,10955	2203	4300	6503	SO:0001583	missense	26015	exon5			GGGCCCTTGGCTT	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.494A>T	15.37:g.41827757T>A	ENSP00000306123:p.Lys165Met	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	67	52	0.776119	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	279	0.12774725274725274	196	0.3983739837398374	34	0.09392265193370165	10	0.017482517482517484	39	0.051451187335092345	T	15.70	2.909962	0.52439	0.348162	0.060116	ENSG00000103932	ENST00000304330	T	0.12672	2.66	5.26	-2.47	0.06442	.	1.431580	0.03677	N	0.244940	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.31040	0.305	B	0.33295	0.161	T	0.46091	-0.9216	9	0.72032	D	0.01	-12.1361	5.4209	0.16400	0.1357:0.3919:0.0:0.4725	rs2297382;rs57017522;rs2297382	165	Q9BWH6	RPAP1_HUMAN	M	165	ENSP00000306123:K165M	ENSP00000306123:K165M	K	-	2	0	RPAP1	39615049	0.003000	0.15002	0.000000	0.03702	0.532000	0.34746	-0.115000	0.10741	-0.316000	0.08690	-0.696000	0.03686	AAG	T|0.855;A|0.145	0.145	strong		0.522	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41827757	T	A	41827757	3	1	23	1	0	0	0	0	1	0	0	0	13541	1609	56	5	3771	5	RPAP1	15	41827757	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22520	41827757	60703635	3485	19941										
TYRO3	7301	hgsc.bcm.edu	37	chr15	41857303	41857303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcctggatgccaggtgcTgatggccgagctctgctaca	15	11	1	1	rs2277536	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:41857303T>C	ENST00000263798.3	+	6	971	c.747T>C	c.(745-747)gcT>gcC	p.A249A	TYRO3_ENST00000559066.1_Silent_p.A204A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	249	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		TGCCAGGTGCTGATGGCCGAG	0.592													T|||	1338	0.267173	0.1959	0.4063	5008	,	,		20524	0.1736		0.3082	False		,,,				2504	0.319				p.A249A		Atlas-SNP	.											.	TYRO3	169	.	0			c.T747C						PASS	.	T		890,3516		81,728,1394	94	84	88		747	-0.1	1	15	dbSNP_100	88	2455,6145		285,1885,2130	no	coding-synonymous	TYRO3	NM_006293.3		366,2613,3524	CC,CT,TT		28.5465,20.1997,25.7189		249/891	41857303	3345,9661	2203	4300	6503	SO:0001819	synonymous_variant	7301	exon6			AGGTGCTGATGGC	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.747T>C	15.37:g.41857303T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	47	32	0.680851	NM_006293	O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	CCDS10080.1																																																																																			T|0.736;C|0.264	0.264	strong		0.592	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			C	41857303	T	C	41857303	2	2	23	1	0	0	0	0	0	0	0	1	16811	1567	55	3		3	TYRO3	15	41857303	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	29546	41857303	60674089	3486	19942										
SPTBN5	51332	hgsc.bcm.edu	37	chr15	42145049	42145049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgggcttcagcaggagtccCtcccagcaggccagccaggc	13	16	1	0	rs55978013	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42145049C>T	ENST00000320955.6	-	60	10547	c.10320G>A	c.(10318-10320)gaG>gaA	p.E3440E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3440					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAGGAGTCCCTCCCAGCAGG	0.692													C|||	329	0.0656949	0.0061	0.1153	5008	,	,		14946	0.0159		0.0964	False		,,,				2504	0.1309				p.E3405E		Atlas-SNP	.											.	SPTBN5	171	.	0			c.G10215A						PASS	.	C		86,3790		1,84,1853	18	23	21		10215	0	0.1	15	dbSNP_129	21	814,7460		41,732,3364	no	coding-synonymous	SPTBN5	NM_016642.2		42,816,5217	TT,TC,CC		9.838,2.2188,7.4074		3405/3640	42145049	900,11250	1938	4137	6075	SO:0001819	synonymous_variant	51332	exon60			GAGTCCCTCCCAG	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10320G>A	15.37:g.42145049C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	89	26	0.292135	NM_016642		Silent	SNP	ENST00000320955.6	37																																																																																				C|0.936;T|0.064	0.064	strong		0.692	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42145049	C	T	42145049	2	4	23	1	0	0	0	0	0	0	0	1	15121	680	24	2		2	SPTBN5	15	42145049	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	287746	42145049	60386343	3487	19943										
EHD4	30844	hgsc.bcm.edu	37	chr15	42235316	42235316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgccggggctgtcgatgaCgctgatgctcttcaggacct	14	11	2	2	rs11549015	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42235316C>T	ENST00000220325.4	-	3	543	c.460G>A	c.(460-462)Gtc>Atc	p.V154I		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	154	Dynamin-type G.		V -> I (in dbSNP:rs11549015).		cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)	p.V154I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CTGTCGATGACGCTGATGCTC	0.602													T|||	416	0.0830671	0.0113	0.1052	5008	,	,		19426	0.0099		0.174	False		,,,				2504	0.1462				p.V154I		Atlas-SNP	.											EHD4,NS,carcinoma,0,1	EHD4	46	1	1	Substitution - Missense(1)	stomach(1)	c.G460A						PASS	.	T	ILE/VAL	152,4252		6,140,2056	73	60	65		460	4.2	1	15	dbSNP_120	65	1432,7162		121,1190,2986	yes	missense	EHD4	NM_139265.3	29	127,1330,5042	TT,TC,CC		16.6628,3.4514,12.1865	benign	154/542	42235316	1584,11414	2202	4297	6499	SO:0001583	missense	30844	exon3			CGATGACGCTGAT	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.460G>A	15.37:g.42235316C>T	ENSP00000220325:p.Val154Ile	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	50	12	0.24	NM_139265	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	187	0.08562271062271062	8	0.016260162601626018	43	0.11878453038674033	5	0.008741258741258742	131	0.17282321899736147	T	6.270	0.417981	0.11870	0.034514	0.166628	ENSG00000103966	ENST00000220325	D	0.94828	-3.53	5.31	4.18	0.49190	Dynamin, GTPase domain (1);	0.050763	0.85682	N	0.000000	T	0.00608	0.0020	N	0.00496	-1.435	0.47341	P	6.070000000000242E-4	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.50189	-0.8857	9	0.02654	T	1	-14.2989	9.7155	0.40272	0.0:0.144:0.0:0.856	rs11549015;rs17739185;rs52802765;rs11549015	154;154	A8K9B9;Q9H223	.;EHD4_HUMAN	I	154	ENSP00000220325:V154I	ENSP00000220325:V154I	V	-	1	0	EHD4	40022608	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.535000	0.45685	0.330000	0.23485	-0.360000	0.07572	GTC	C|0.899;T|0.101	0.101	strong		0.602	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		T	42235316	C	T	42235316	3	4	23	1	0	0	0	0	1	0	0	0	4980	536	19	1	1181	1	EHD4	15	42235316	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	90267	42235316	60296076	3488	19944										
VPS39	23339	hgsc.bcm.edu	37	chr15	42459034	42459034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtacttgtgagccttcttTagcacgtgctcgctctcctc	8	14	2	1	rs1619030	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42459034T>C	ENST00000348544.4	-	15	1487	c.1488A>G	c.(1486-1488)ctA>ctG	p.L496L	VPS39_ENST00000318006.5_Silent_p.L485L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	496					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GAGCCTTCTTTAGCACGTGCT	0.547													C|||	1995	0.398363	0.739	0.4942	5008	,	,		20631	0.1815		0.1332	False		,,,				2504	0.3661				p.L485L		Atlas-SNP	.											.	VPS39	53	.	0			c.A1455G						PASS	.	C		2756,1650	505.1+/-366.0	893,970,340	145	128	134		1455	4.9	1	15	dbSNP_89	134	1201,7397	762.9+/-407.6	97,1007,3195	no	coding-synonymous	VPS39	NM_015289.2		990,1977,3535	CC,CT,TT		13.9684,37.4489,30.4291		485/876	42459034	3957,9047	2203	4299	6502	SO:0001819	synonymous_variant	23339	exon14			CTTCTTTAGCACG	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1488A>G	15.37:g.42459034T>C		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	79	21	0.265823	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																			T|0.694;C|0.306	0.306	strong		0.547	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		C	42459034	T	C	42459034	2	2	23	1	0	0	0	0	0	0	0	1	17206	1741	61	2		2	VPS39	15	42459034	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	223718	42459034	60072358	3489	19945										
GANC	2595	hgsc.bcm.edu	37	chr15	42643529	42643529	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttgtatctattccagttTtgctgaccagaggggtcatt					rs7181742	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42643529T>C	ENST00000318010.8	+	23	2774	c.2534T>C	c.(2533-2535)tTt>tCt	p.F845S	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	845			F -> S (in dbSNP:rs7181742). {ECO:0000269|PubMed:12370436}.		carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TATTCCAGTTTTGCTGACCAG	0.488													C|||	1895	0.378395	0.7405	0.3847	5008	,	,		17663	0.1577		0.1332	False		,,,				2504	0.364				p.F845S		Atlas-SNP	.											.	GANC	57	.	0			c.T2534C						PASS	.	C	SER/PHE	2763,1643	503.7+/-365.6	905,953,345	118	107	111		2534	3.5	1	15	dbSNP_116	111	1195,7403	763.2+/-407.6	97,1001,3201	yes	missense	GANC	NM_198141.2	155	1002,1954,3546	CC,CT,TT		13.8986,37.2901,30.4368	benign	845/915	42643529	3958,9046	2203	4299	6502	SO:0001583	missense	2595	exon23			CCAGTTTTGCTGA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2534T>C	15.37:g.42643529T>C	ENSP00000326227:p.Phe845Ser	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	94	20	0.212766	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	616	0.28205128205128205	334	0.6788617886178862	119	0.3287292817679558	73	0.12762237762237763	90	0.11873350923482849	C	10.48	1.362931	0.24684	0.627099	0.138986	ENSG00000214013	ENST00000318010	D	0.85773	-2.03	5.38	3.48	0.39840	.	0.456476	0.26045	N	0.026670	T	0.00012	0.0000	N	0.00377	-1.585	0.09310	P	0.9999999897697	B	0.02656	0.0	B	0.01281	0.0	T	0.45629	-0.9248	9	0.02654	T	1	-7.2067	4.1575	0.10268	0.0915:0.1781:0.5876:0.1428	rs7181742;rs52820484;rs58917918;rs7181742	845	Q8TET4	GANC_HUMAN	S	845	ENSP00000326227:F845S	ENSP00000447925:F77S	F	+	2	0	GANC	40430821	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	2.048000	0.41278	0.677000	0.31305	-0.128000	0.14901	TTT	T|0.702;C|0.298	0.298	strong		0.488	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42643529	T	C	42643529	3	2	23	1	0	0	0	0	1	0	0	0	6234	1841	64	2	2624	2	GANC	15	42643529	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	184495	42643529	59887863	3490	19946	405	2								
GANC	2595	hgsc.bcm.edu	37	chr15	42643538	42643538	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctattccagttttgctgaccAgaggggtcattatcccagca					rs7180279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42643538A>G	ENST00000318010.8	+	23	2783	c.2543A>G	c.(2542-2544)cAg>cGg	p.Q848R	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	848			Q -> R (in dbSNP:rs7180279). {ECO:0000269|PubMed:12370436}.		carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TTTGCTGACCAGAGGGGTCAT	0.483													A|||	744	0.148562	0.2035	0.2925	5008	,	,		17919	0.0972		0.0477	False		,,,				2504	0.1288				p.Q848R		Atlas-SNP	.											.	GANC	57	.	0			c.A2543G						PASS	.	A	ARG/GLN	781,3625	315.8+/-294.3	67,647,1489	133	120	124		2543	2.8	0.8	15	dbSNP_116	124	486,8112	141.9+/-198.1	12,462,3825	yes	missense	GANC	NM_198141.2	43	79,1109,5314	GG,GA,AA		5.6525,17.7258,9.7432	benign	848/915	42643538	1267,11737	2203	4299	6502	SO:0001583	missense	2595	exon23			CTGACCAGAGGGG	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2543A>G	15.37:g.42643538A>G	ENSP00000326227:p.Gln848Arg	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	97	19	0.195876	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	250	0.11446886446886446	102	0.2073170731707317	83	0.2292817679558011	37	0.06468531468531469	28	0.036939313984168866	A	11.83	1.755487	0.31046	0.177258	0.056525	ENSG00000214013	ENST00000318010	D	0.86297	-2.1	5.38	2.85	0.33270	.	0.928257	0.09209	N	0.833473	T	0.00073	0.0002	N	0.03608	-0.345	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.06643	-1.0815	9	0.28530	T	0.3	-1.9263	5.2189	0.15358	0.7246:0.1809:0.0945:0.0	rs7180279;rs52792254;rs60285266;rs7180279	848	Q8TET4	GANC_HUMAN	R	848	ENSP00000326227:Q848R	ENSP00000447925:Q80R	Q	+	2	0	GANC	40430830	0.000000	0.05858	0.765000	0.31456	0.678000	0.39670	0.861000	0.27885	2.051000	0.60960	0.528000	0.53228	CAG	A|0.898;G|0.102	0.102	strong		0.483	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		G	42643538	A	G	42643538	3	3	23	1	0	0	0	0	1	0	0	0	6234	188	7	3	2633	3	GANC	15	42643538	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9	42643538	59887854	3491	19947	405	2								
CAPN3	825	hgsc.bcm.edu	37	chr15	42702836	42702836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccggcaccatcaacagctaCgagatgcgaaatgcagtcaa	9	12	2	1	rs147774793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42702836C>T	ENST00000397163.3	+	21	2454	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	CAPN3_ENST00000357568.3_Silent_p.Y739Y|CAPN3_ENST00000397204.4_Silent_p.Y80Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.Y652Y|CAPN3_ENST00000397200.4_Silent_p.Y233Y|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Silent_p.Y80Y|CAPN3_ENST00000318023.7_Silent_p.Y739Y|CAPN3_ENST00000337571.4_Silent_p.Y80Y|CAPN3_ENST00000349748.3_Silent_p.Y653Y|CAPN3_ENST00000561817.1_Silent_p.Y80Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	745	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCAACAGCTACGAGATGCGAA	0.517																																					p.Y745Y		Atlas-SNP	.											.	CAPN3	172	.	0			c.C2235T	GRCh37	CM051887	CAPN3	M	rs147774793	PASS	.	C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	65	59	61		2235,2217,1959,699,240,240	-3.8	1	15	dbSNP_134	61	9,8589	7.1+/-27.0	0,9,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1,NM_173089.1,NM_173090.1	,,,,,	0,11,6491	TT,TC,CC		0.1047,0.0454,0.0846	,,,,,	745/822,739/816,653/730,233/310,80/157,80/157	42702836	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	825	exon21			CAGCTACGAGATG	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2235C>T	15.37:g.42702836C>T		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	89	20	0.224719	NM_000070	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																			C|0.999;T|0.001	0.001	strong		0.517	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			T	42702836	C	T	42702836	2	4	23	1	0	0	0	0	0	0	0	1	2628	547	19	1		1	CAPN3	15	42702836	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	59298	42702836	59828556	3492	19948										
ZFP106	64397	hgsc.bcm.edu	37	chr15	42720288	42720288	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccatctactgtggaggcaGaggacccggtcttccagctg	13	13	2	1	rs11544099	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42720288G>C	ENST00000263805.4	-	12	5183	c.4857C>G	c.(4855-4857)ctC>ctG	p.L1619L	RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Silent_p.L847L|ZNF106_ENST00000565611.1_Silent_p.L804L	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1619					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTGGAGGCAGAGGACCCGGT	0.498													G|||	261	0.0521166	0.0431	0.0735	5008	,	,		19492	0.006		0.1173	False		,,,				2504	0.0297				p.L1619L		Atlas-SNP	.											ZFP106,NS,carcinoma,0,1	ZFP106	117	1	0			c.C4857G						PASS	.	G		258,4148	147.6+/-182.1	4,250,1949	133	106	115		4857	3.4	1	15	dbSNP_120	115	1188,7410	242.4+/-272.4	85,1018,3196	no	coding-synonymous	ZFP106	NM_022473.1		89,1268,5145	CC,CG,GG		13.8172,5.8557,11.1197		1619/1884	42720288	1446,11558	2203	4299	6502	SO:0001819	synonymous_variant	64397	exon12			GAGGCAGAGGACC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4857C>G	15.37:g.42720288G>C		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																			G|0.904;C|0.096	0.096	strong		0.498	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		C	42720288	G	C	42720288	2	2	23	1	0	0	0	0	0	0	0	1	17634	929	33	4		4	ZFP106	15	42720288	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17452	42720288	59811104	3493	19949										
ZFP106	64397	hgsc.bcm.edu	37	chr15	42744094	42744094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattcggtcttctcgtctccAttggggtcgtctgtcatcag	10	11	6	0	rs12440118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42744094A>G	ENST00000263805.4	-	2	633	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	103			W -> R (in dbSNP:rs12440118).		insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCGTCTCCATTGGGGTCGT	0.438													A|||	295	0.0589058	0.0068	0.1037	5008	,	,		18656	0.006		0.1362	False		,,,				2504	0.0726				p.W103R		Atlas-SNP	.											.	ZFP106	117	.	0			c.T307C						PASS	.	A	ARG/TRP	165,4241	109.9+/-148.2	1,163,2039	215	195	202		307	-4.6	0.2	15	dbSNP_120	202	1288,7310	256.1+/-280.7	103,1082,3114	yes	missense	ZFP106	NM_022473.1	101	104,1245,5153	GG,GA,AA		14.9802,3.7449,11.1735	benign	103/1884	42744094	1453,11551	2203	4299	6502	SO:0001583	missense	64397	exon2			GTCTCCATTGGGG	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.307T>C	15.37:g.42744094A>G	ENSP00000263805:p.Trp103Arg	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	84	83	0.988095	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	142	0.06501831501831502	4	0.008130081300813009	42	0.11602209944751381	0	0.0	96	0.1266490765171504	A	1.982	-0.433843	0.04669	0.037449	0.149802	ENSG00000103994	ENST00000263805	T	0.13420	2.59	5.44	-4.57	0.03421	.	0.644100	0.15631	N	0.252384	T	0.00039	0.0001	N	0.12746	0.255	0.22591	P	0.99895191	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	9	0.06099	T	0.92	0.8154	6.0782	0.19927	0.2285:0.0:0.2073:0.5642	rs12440118;rs17709157;rs52810470;rs61196539;rs12440118	103	Q9H2Y7	ZF106_HUMAN	R	103	ENSP00000263805:W103R	ENSP00000263805:W103R	W	-	1	0	ZFP106	40531386	0.001000	0.12720	0.165000	0.22776	0.988000	0.76386	-0.349000	0.07731	-1.037000	0.03283	-0.282000	0.10007	TGG	A|0.907;G|0.093	0.093	strong		0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		G	42744094	A	G	42744094	3	3	23	1	0	0	0	0	1	0	0	0	17634	217	8	2	5416	2	ZFP106	15	42744094	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	23806	42744094	59787298	3494	19950										
SNAP23	8773	hgsc.bcm.edu	37	chr15	42820589	42820589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcttcagcaaccaacaacGggagcagccagtggtggata	12	11	1	0	rs1060291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:42820589G>A	ENST00000249647.3	+	6	864	c.396G>A	c.(394-396)acG>acA	p.T132T	SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	132					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		AACCAACAACGGGAGCAGCCA	0.458													A|||	1416	0.282748	0.6611	0.2061	5008	,	,		14604	0.0079		0.2227	False		,,,				2504	0.1708				p.T132T		Atlas-SNP	.											SNAP23,colon,carcinoma,+1,1	SNAP23	15	1	0			c.G396A						PASS	.	A	,	2567,1839	535.6+/-374.3	751,1065,387	76	64	68		396,	-3.2	0	15	dbSNP_86	68	2086,6512	716.4+/-406.1	277,1532,2490	no	coding-synonymous,intron	SNAP23	NM_003825.3,NM_130798.2	,	1028,2597,2877	AA,AG,GG		24.2615,41.7385,35.7813	,	132/212,	42820589	4653,8351	2203	4299	6502	SO:0001819	synonymous_variant	8773	exon6			AACAACGGGAGCA	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.396G>A	15.37:g.42820589G>A		Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	60	60	1	NM_003825	O00162|Q13602|Q6IAE3	Silent	SNP	ENST00000249647.3	37	CCDS10087.1																																																																																			G|0.678;A|0.322	0.322	strong		0.458	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		A	42820589	G	A	42820589	2	1	23	1	0	0	0	0	0	0	0	1	14829	1103	39	1		1	SNAP23	15	42820589	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	76495	42820589	59710803	3495	19951										
TTBK2	146057	hgsc.bcm.edu	37	chr15	43170793	43170793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaacactcaggatatccAgctgctctcctcccccactc	4	19	2	0	rs6493068	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:43170793A>G	ENST00000267890.6	-	2	131	c.23T>C	c.(22-24)cTg>cCg	p.L8P	TTBK2_ENST00000567274.1_Missense_Mutation_p.L8P|TTBK2_ENST00000567840.1_Missense_Mutation_p.L8P|TTBK2_ENST00000567485.1_5'UTR	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	8			L -> P (in dbSNP:rs6493068). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19533200}.		cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAGGATATCCAGCTGCTCTCC	0.458													G|||	2578	0.514776	0.9592	0.2867	5008	,	,		15499	0.4157		0.2803	False		,,,				2504	0.4192				p.L8P		Atlas-SNP	.											.	TTBK2	82	.	0			c.T23C						PASS	.	G	PRO/LEU	3271,759		1343,585,87	159	179	173		23	5.3	0.9	15	dbSNP_116	173	2534,5802		356,1822,1990	yes	missense	TTBK2	NM_173500.3	98	1699,2407,2077	GG,GA,AA		30.3983,18.8337,46.9432	benign	8/1245	43170793	5805,6561	2015	4168	6183	SO:0001583	missense	146057	exon2			ATATCCAGCTGCT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.23T>C	15.37:g.43170793A>G	ENSP00000267890:p.Leu8Pro	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	102	24	0.235294	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	1047	0.4793956043956044	465	0.9451219512195121	118	0.3259668508287293	242	0.4230769230769231	222	0.2928759894459103	G	14.23	2.474363	0.43942	0.811663	0.303983	ENSG00000128881	ENST00000267890	T	0.37235	1.21	5.29	5.29	0.74685	.	.	.	.	.	T	0.00012	0.0000	N	0.05124	-0.11	0.22330	P	0.999196997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27157	-1.0082	8	0.25106	T	0.35	.	14.2099	0.65756	0.0722:0.0:0.9278:0.0	rs6493068;rs52823398;rs6493068	8;8	Q6IQ55-3;Q6IQ55	.;TTBK2_HUMAN	P	8	ENSP00000267890:L8P	ENSP00000267890:L8P	L	-	2	0	TTBK2	40958085	1.000000	0.71417	0.892000	0.35008	0.883000	0.51084	5.237000	0.65360	1.242000	0.43836	-0.124000	0.14976	CTG	A|0.525;G|0.475	0.475	strong		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		G	43170793	A	G	43170793	3	3	23	1	0	0	0	0	1	0	0	0	16674	188	7	3	3767	3	TTBK2	15	43170793	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	350204	43170793	59360599	3496	19952										
TGM5	9333	hgsc.bcm.edu	37	chr15	43531411	43531411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacctgccagcctccatatGcagggggcagatccttccgg	12	15	0	1	rs28756768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:43531411G>C	ENST00000220420.5	-	8	1062	c.1055C>G	c.(1054-1056)gCa>gGa	p.A352G	TGM5_ENST00000349114.4_Missense_Mutation_p.A270G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	352			A -> G (in dbSNP:rs28756768). {ECO:0000269|PubMed:11390390}.		cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTCCATATGCAGGGGGCAG	0.587													C|||	1216	0.242812	0.5053	0.1484	5008	,	,		19080	0.2431		0.0895	False		,,,				2504	0.1125				p.A352G		Atlas-SNP	.											.	TGM5	88	.	0			c.C1055G						PASS	.	C	GLY/ALA,GLY/ALA	1927,2477	623.6+/-394.2	429,1069,704	70	71	71		809,1055	3.7	0.7	15	dbSNP_125	71	848,7750	780.3+/-407.7	48,752,3499	yes	missense,missense	TGM5	NM_004245.3,NM_201631.3	60,60	477,1821,4203	CC,CG,GG		9.8628,43.7557,21.3429	benign,benign	270/639,352/721	43531411	2775,10227	2202	4299	6501	SO:0001583	missense	9333	exon8			CCATATGCAGGGG	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1055C>G	15.37:g.43531411G>C	ENSP00000220420:p.Ala352Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_201631	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	545	0.24954212454212454	269	0.5467479674796748	59	0.16298342541436464	146	0.25524475524475526	71	0.09366754617414248	C	2.348	-0.349613	0.05173	0.437557	0.098628	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88277	-2.36;-2.36	5.59	3.69	0.42338	Transglutaminase-like (2);	0.397736	0.26955	N	0.021646	T	0.00012	0.0000	N	0.00046	-2.44	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44467	-0.9326	9	0.02654	T	1	-7.8516	7.9641	0.30089	0.0:0.7179:0.1317:0.1505	rs28756768;rs52817033;rs61159524	270;352	O43548-2;O43548	.;TGM5_HUMAN	G	352;270;351	ENSP00000220420:A352G;ENSP00000220419:A270G	ENSP00000220420:A352G	A	-	2	0	TGM5	41318703	0.000000	0.05858	0.732000	0.30844	0.747000	0.42532	-0.763000	0.04740	0.748000	0.32831	-0.120000	0.15030	GCA	G|0.789;C|0.211	0.211	strong		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		C	43531411	G	C	43531411	3	2	23	1	0	0	0	0	1	0	0	0	15830	1319	46	4	1131	4	TGM5	15	43531411	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	360618	43531411	58999981	3497	19953										
SPG11	80208	hgsc.bcm.edu	37	chr15	44943757	44943757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacactttgtgccaagggaaAaacactgcatgccctgggtc	10	11	0	0	rs3759871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:44943757A>G	ENST00000261866.7	-	6	1404	c.1388T>C	c.(1387-1389)tTt>tCt	p.F463S	SPG11_ENST00000559193.1_Missense_Mutation_p.F463S|SPG11_ENST00000427534.2_Missense_Mutation_p.F463S|SPG11_ENST00000558319.1_Missense_Mutation_p.F463S|SPG11_ENST00000535302.2_Missense_Mutation_p.F463S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	463			F -> S (in dbSNP:rs3759871). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F463S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCCAAGGGAAAAACACTGCAT	0.463													A|||	2378	0.47484	0.5234	0.5893	5008	,	,		20546	0.4653		0.4513	False		,,,				2504	0.362				p.F463S		Atlas-SNP	.											SPG11,NS,carcinoma,0,1	SPG11	207	1	1	Substitution - Missense(1)	stomach(1)	c.T1388C						PASS	.	A	SER/PHE,SER/PHE	2310,2086	603.0+/-390.0	609,1092,497	118	110	113	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1388,1388	4.9	0.9	15	dbSNP_107	113	3917,4679	547.6+/-385.2	924,2069,1305	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	155,155	1533,3161,1802	GG,GA,AA		45.5677,47.4522,47.9295	benign,benign	463/2331,463/2444	44943757	6227,6765	2198	4298	6496	SO:0001583	missense	80208	exon6			AGGGAAAAACACT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1388T>C	15.37:g.44943757A>G	ENSP00000261866:p.Phe463Ser	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	124	24	0.193548	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	1075	0.49221611721611724	254	0.516260162601626	206	0.569060773480663	283	0.49475524475524474	332	0.43799472295514513	A	10.01	1.234381	0.22626	0.525478	0.455677	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76060	-0.99;-0.73;-0.73	6.06	4.93	0.64822	.	0.209291	0.42053	D	0.000773	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B;B;B;B	0.22211	0.021;0.066;0.053;0.021	B;B;B;B	0.18561	0.009;0.02;0.022;0.008	T	0.48514	-0.9029	9	0.26408	T	0.33	.	3.1014	0.06327	0.6352:0.1486:0.0744:0.1418	rs3759871;rs52807288;rs59538210;rs3759871	463;463;463;463	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	S	463	ENSP00000261866:F463S;ENSP00000445278:F463S;ENSP00000396110:F463S	ENSP00000261866:F463S	F	-	2	0	SPG11	42731049	0.042000	0.20092	0.856000	0.33681	0.991000	0.79684	1.226000	0.32563	1.092000	0.41356	0.533000	0.62120	TTT	A|0.523;G|0.477	0.477	strong		0.463	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44943757	A	G	44943757	3	3	23	1	0	0	0	0	1	0	0	0	15040	14	1	2	6083	2	SPG11	15	44943757	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1412346	44943757	57587635	3498	19954										
SPATA5L1	79029	hgsc.bcm.edu	37	chr15	45695695	45695695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctagacccagcgctgcgtagGcccgggagatttgaccgaga	14	12	0	4	rs1153849	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:45695695G>A	ENST00000305560.6	+	1	1167	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Silent_p.R356R	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	356						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGCTGCGTAGGCCCGGGAGAT	0.677													A|||	3094	0.617812	0.8676	0.5706	5008	,	,		14893	0.8145		0.2753	False		,,,				2504	0.4632				p.R356R		Atlas-SNP	.											.	SPATA5L1	40	.	0			c.G1068A						PASS	.	A		3242,1100		1234,774,163	33	39	37		1068	-0.1	1	15	dbSNP_87	37	2239,6277		311,1617,2330	no	coding-synonymous	SPATA5L1	NM_024063.2		1545,2391,2493	AA,AG,GG		26.2917,25.3339,42.6272		356/754	45695695	5481,7377	2171	4258	6429	SO:0001819	synonymous_variant	79029	exon1			GCGTAGGCCCGGG	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1068G>A	15.37:g.45695695G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	31	5	0.16129	NM_024063	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1																																																																																			G|0.415;A|0.585	0.585	strong		0.677	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		A	45695695	G	A	45695695	2	1	23	1	0	0	0	0	0	0	0	1	15011	1194	42	2		2	SPATA5L1	15	45695695	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	751938	45695695	56835697	3499	19955										
FBN1	2200	hgsc.bcm.edu	37	chr15	48797307	48797307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagtgttgacgcaacgcccAttcatgcagatcccaggggt	11	12	2	2	rs25458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:48797307A>G	ENST00000316623.5	-	16	2330	c.1875T>C	c.(1873-1875)aaT>aaC	p.N625N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	625	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGCAACGCCCATTCATGCAGA	0.443													A|||	1487	0.296925	0.5106	0.2046	5008	,	,		19066	0.3522		0.1501	False		,,,				2504	0.1677				p.N625N		Atlas-SNP	.											.	FBN1	310	.	0			c.T1875C	GRCh37	CM070116	FBN1	M	rs25458	PASS	.	A		1954,2440	553.3+/-378.7	441,1072,684	151	142	145		1875	-3.3	1	15	dbSNP_71	145	1220,7372	246.8+/-275.1	79,1062,3155	no	coding-synonymous	FBN1	NM_000138.4		520,2134,3839	GG,GA,AA		14.1993,44.4697,24.4417		625/2872	48797307	3174,9812	2197	4296	6493	SO:0001819	synonymous_variant	2200	exon16			ACGCCCATTCATG	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1875T>C	15.37:g.48797307A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	70	49	0.7	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																			A|0.747;G|0.253	0.253	strong		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48797307	A	G	48797307	2	3	23	1	0	0	0	0	0	0	0	1	5702	214	8	2		2	FBN1	15	48797307	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3101612	48797307	53734085	3500	19956										
SLC27A2	11001	hgsc.bcm.edu	37	chr15	50474766	50474766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagggtgcgcagctacgggAagcggcggccggcgcgcacc	20	13	0	0	rs1648348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:50474766A>C	ENST00000267842.5	+	1	374	c.142A>C	c.(142-144)Aag>Cag	p.K48Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.K48Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	48			K -> Q (in dbSNP:rs1648348). {ECO:0000269|PubMed:10198260, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1, ECO:0000269|Ref.6}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAGCTACGGGAAGCGGCGGCC	0.647													A|||	3070	0.613019	0.3729	0.6326	5008	,	,		13597	0.8095		0.6501	False		,,,				2504	0.683				p.K48Q		Atlas-SNP	.											.	SLC27A2	50	.	0			c.A142C						PASS	.	A	GLN/LYS,GLN/LYS	1867,2519		393,1081,719	19	20	20		142,142	0.7	0	15	dbSNP_89	20	5703,2873		1911,1881,496	yes	missense,missense	SLC27A2	NM_001159629.1,NM_003645.3	53,53	2304,2962,1215	CC,CA,AA		33.5005,42.5673,41.5985	benign,benign	48/568,48/621	50474766	7570,5392	2193	4288	6481	SO:0001583	missense	11001	exon1			TACGGGAAGCGGC	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.142A>C	15.37:g.50474766A>C	ENSP00000267842:p.Lys48Gln	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	34	7	0.205882	NM_003645	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	1413	0.646978021978022	205	0.4166666666666667	221	0.6104972375690608	471	0.8234265734265734	516	0.6807387862796834	A	1.463	-0.561990	0.03939	0.425673	0.664995	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.60548	0.29;0.18	4.94	0.708	0.18144	.	2.094770	0.02304	N	0.071516	T	0.00012	0.0000	N	0.05280	-0.08	0.50467	P	1.2900000000004574E-4	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.45745	-0.9240	9	0.20519	T	0.43	.	13.7473	0.62883	0.6771:0.3229:0.0:0.0	rs1648348;rs17848318;rs1648348	48;48	Q6PF09;O14975	.;S27A2_HUMAN	Q	48	ENSP00000370289:K48Q;ENSP00000267842:K48Q	ENSP00000267842:K48Q	K	+	1	0	SLC27A2	48262058	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.034000	0.13776	-0.049000	0.13379	-0.249000	0.11873	AAG	A|0.412;C|0.588	0.588	strong		0.647	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		C	50474766	A	C	50474766	3	2	23	1	0	0	0	0	1	0	0	0	14526	247	9	5	144	5	SLC27A2	15	50474766	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1677459	50474766	52056626	3501	19957										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51792232	51792232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcccacaatgctcactgtActgctattatcttctccttc	3	15	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:51792232A>G	ENST00000251076.5	-	18	3476	c.3189T>C	c.(3187-3189)agT>agC	p.S1063S	DMXL2_ENST00000543779.2_Silent_p.S1063S|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1063						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCTCACTGTACTGCTATTAT	0.413																																					p.S1063S		Atlas-SNP	.											DMXL2,NS,carcinoma,-1,2	DMXL2	262	2	0			c.T3189C						scavenged	.						132	116	122					15																	51792232		2195	4293	6488	SO:0001819	synonymous_variant	23312	exon18			CACTGTACTGCTA	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3189T>C	15.37:g.51792232A>G		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	153	2	0.0130719	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			.	.	none		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51792232	A	G	51792232	2	3	23	1	0	0	0	0	0	0	0	1	4595	388	14	2		2	DMXL2	15	51792232	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1317466	51792232	50739160	3502	19958										
GNB5	10681	hgsc.bcm.edu	37	chr15	52433397	52433397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggtgtgcatagcaacagaCttctttttggcagccatgtt	10	8	1	1	rs17612637	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:52433397C>T	ENST00000261837.7	-	7	632	c.567G>A	c.(565-567)aaG>aaA	p.K189K	GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Silent_p.K147K|GNB5_ENST00000559348.1_5'Flank|CTD-2184D3.7_ENST00000560613.1_RNA|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	189					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TAGCAACAGACTTCTTTTTGG	0.473													C|||	82	0.0163738	0.0008	0.0389	5008	,	,		18151	0.0		0.0368	False		,,,				2504	0.0174				p.K189K		Atlas-SNP	.											.	GNB5	28	.	0			c.G567A						PASS	.	C	,	35,4355	39.2+/-71.8	1,33,2161	166	150	155		441,567	5.3	1	15	dbSNP_123	155	317,8269	112.5+/-172.7	4,309,3980	no	coding-synonymous,coding-synonymous	GNB5	NM_006578.3,NM_016194.3	,	5,342,6141	TT,TC,CC		3.6921,0.7973,2.7127	,	147/354,189/396	52433397	352,12624	2195	4293	6488	SO:0001819	synonymous_variant	10681	exon7			AACAGACTTCTTT	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.567G>A	15.37:g.52433397C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	94	24	0.255319	NM_016194	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																			C|0.973;G|0.000;T|0.027	0.027	strong		0.473	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			T	52433397	C	T	52433397	2	4	23	1	0	0	0	0	0	0	0	1	6521	564	20	2		2	GNB5	15	52433397	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	641165	52433397	50097995	3503	19959										
GNB5	10681	hgsc.bcm.edu	37	chr15	52446200	52446200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcacaggactttgttcccGtggcctttgagggtccttct	11	11	1	1	rs6493537	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:52446200G>A	ENST00000261837.7	-	4	377	c.312C>T	c.(310-312)caC>caT	p.H104H	GNB5_ENST00000396335.4_Silent_p.H62H|GNB5_ENST00000560116.1_Silent_p.H62H|GNB5_ENST00000358784.7_Silent_p.H62H	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	104					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTTTGTTCCCGTGGCCTTTGA	0.562													A|||	650	0.129792	0.3442	0.1167	5008	,	,		19422	0.0258		0.0417	False		,,,				2504	0.047				p.H104H		Atlas-SNP	.											.	GNB5	28	.	0			c.C312T						PASS	.	A	,	1362,3028	690.6+/-405.3	225,912,1058	152	129	137		186,312	-6	0.9	15	dbSNP_116	137	334,8252	803.8+/-407.3	5,324,3964	no	coding-synonymous,coding-synonymous	GNB5	NM_006578.3,NM_016194.3	,	230,1236,5022	AA,AG,GG		3.8901,31.0251,13.0703	,	62/354,104/396	52446200	1696,11280	2195	4293	6488	SO:0001819	synonymous_variant	10681	exon4			GTTCCCGTGGCCT	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.312C>T	15.37:g.52446200G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	35	7	0.2	NM_016194	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																			G|0.873;A|0.127	0.127	strong		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			A	52446200	G	A	52446200	2	1	23	1	0	0	0	0	0	0	0	1	6521	1136	40	1		1	GNB5	15	52446200	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12803	52446200	50085192	3504	19960										
GNB5	10681	hgsc.bcm.edu	37	chr15	52446260	52446260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagggcctccacccgctcCgccacctggtgcactggaat	10	19	0	0	rs35581121	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:52446260C>T	ENST00000261837.7	-	4	317	c.252G>A	c.(250-252)gcG>gcA	p.A84A	GNB5_ENST00000396335.4_Silent_p.A42A|GNB5_ENST00000560116.1_Silent_p.A42A|GNB5_ENST00000358784.7_Silent_p.A42A	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	84					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CCACCCGCTCCGCCACCTGGT	0.562													C|||	84	0.0167732	0.0008	0.0389	5008	,	,		18869	0.001		0.0378	False		,,,				2504	0.0174				p.A84A		Atlas-SNP	.											.	GNB5	28	.	0			c.G252A						PASS	.	C	,	36,4354	40.0+/-72.8	1,34,2160	79	67	71		126,252	-11.1	0	15	dbSNP_126	71	317,8269	112.5+/-172.7	4,309,3980	no	coding-synonymous,coding-synonymous	GNB5	NM_006578.3,NM_016194.3	,	5,343,6140	TT,TC,CC		3.6921,0.82,2.7204	,	42/354,84/396	52446260	353,12623	2195	4293	6488	SO:0001819	synonymous_variant	10681	exon4			CCGCTCCGCCACC	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.252G>A	15.37:g.52446260C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	26	6	0.230769	NM_016194	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																			C|0.973;T|0.027	0.027	strong		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			T	52446260	C	T	52446260	2	4	23	1	0	0	0	0	0	0	0	1	6521	639	23	1		1	GNB5	15	52446260	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	60	52446260	50085132	3505	19961										
MYO5A	4644	hgsc.bcm.edu	37	chr15	52635394	52635394	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtaatccagagcagatgaTcttccatgcaaaaggaacaa	9	8	1	3	rs61731219	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:52635394T>A	ENST00000399231.3	-	31	4203	c.3960A>T	c.(3958-3960)agA>agT	p.R1320S	MYO5A_ENST00000553916.1_Intron|MYO5A_ENST00000399233.2_Splice_Site_p.R1317S|MYO5A_ENST00000356338.6_Intron|MYO5A_ENST00000358212.6_Splice_Site_p.R1320S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1320					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)		GAGCAGATGATCTTCCATGCA	0.408													T|||	58	0.0115815	0.0023	0.0072	5008	,	,		19797	0.0		0.0437	False		,,,				2504	0.0061				p.R1320S		Atlas-SNP	.											.	MYO5A	145	.	0			c.A3960T						PASS	.	T	SER/ARG,	24,3884		0,24,1930	92	85	87		3960,	5.9	1	15	dbSNP_129	87	339,7997		6,327,3835	yes	missense-near-splice,intron	MYO5A	NM_000259.3,NM_001142495.1	110,	6,351,5765	AA,AT,TT		4.0667,0.6141,2.9647	benign,	1320/1856,	52635394	363,11881	1954	4168	6122	SO:0001630	splice_region_variant	4644	exon31			AGATGATCTTCCA		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.3960-1A>T	15.37:g.52635394T>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	56	48	0.857143	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	37	0.01694139194139194	0	0.0	4	0.011049723756906077	0	0.0	33	0.04353562005277045	T	15.01	2.706322	0.48412	0.006141	0.040667	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000358212;ENST00000399228	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	5.87	5.87	0.94306	.	0.059846	0.64402	D	0.000003	T	0.02807	0.0084	L	0.43152	1.355	0.80722	D	1	D;D;P	0.61080	0.989;0.989;0.495	D;D;B	0.75020	0.985;0.985;0.034	T	0.05566	-1.0877	10	0.38643	T	0.18	.	10.8931	0.47006	0.0:0.0783:0.0:0.9217	rs61731219	110;113;1320	Q9UES5;O95317;Q9Y4I1	.;.;MYO5A_HUMAN	S	1320;1317;1320;110	ENSP00000382177:R1320S;ENSP00000382179:R1317S;ENSP00000350945:R1320S;ENSP00000382174:R110S	ENSP00000350945:R1320S	R	-	3	2	MYO5A	50422686	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.751000	0.55165	2.236000	0.73375	0.528000	0.53228	AGA	T|0.955;A|0.045	0.045	strong		0.408	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Missense_Mutation	A	52635394	T	A	52635394	5	1	23	1	0	0	0	0	0	0	1	0	10078	1449	50	5	1651	5	MYO5A	15	52635394	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	189134	52635394	49895998	3506	19962										
PIGB	9488	hgsc.bcm.edu	37	chr15	55647492	55647492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atttgcttctaggaaataagCgctttcctaatttcaagcaa	6	8	2	0	rs8043415	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55647492C>T	ENST00000164305.5	+	12	1818	c.1527C>T	c.(1525-1527)agC>agT	p.S509S	PIGB_ENST00000539642.1_Silent_p.S314S|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|CCPG1_ENST00000442196.3_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	509					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		AGGAAATAAGCGCTTTCCTAA	0.348													C|||	488	0.0974441	0.2254	0.0519	5008	,	,		17133	0.001		0.0696	False		,,,				2504	0.0849				p.S509S		Atlas-SNP	.											PIGB,NS,carcinoma,+1,1	PIGB	36	1	0			c.C1527T						PASS	.	C	,,,,	728,2880		68,592,1144	46	45	45		,,,1527,	1	0.2	15	dbSNP_116	45	603,7529		17,569,3480	no	utr-3,utr-3,utr-3,coding-synonymous,utr-3	CCPG1,PIGB	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_004855.4,NM_020739.3	,,,,	85,1161,4624	TT,TC,CC		7.4152,20.1774,11.3373	,,,,	,,,509/555,	55647492	1331,10409	1804	4066	5870	SO:0001819	synonymous_variant	9488	exon12			AATAAGCGCTTTC	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1527C>T	15.37:g.55647492C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_004855	Q53FF9|Q8WVN7	Silent	SNP	ENST00000164305.5	37																																																																																				C|0.909;T|0.091	0.091	strong		0.348	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		T	55647492	C	T	55647492	2	4	23	1	0	0	0	0	0	0	0	1	11885	767	27	1		1	PIGB	15	55647492	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3012098	55647492	46883900	3507	19963										
CCPG1	9236	hgsc.bcm.edu	37	chr15	55664110	55664110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggttcagtttcttgttcaGcaactagccggtcttcagat	9	9	5	1	rs117236526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55664110G>C	ENST00000310958.6	-	6	885	c.587C>G	c.(586-588)gCt>gGt	p.A196G	CCPG1_ENST00000425574.3_Missense_Mutation_p.A196G|MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.A196G|CCPG1_ENST00000569205.1_Missense_Mutation_p.A196G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	196	Interaction with MCF2L and SRC. {ECO:0000250}.			A -> G (in Ref. 1; BAA86568). {ECO:0000305}.	cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTTGTTCAGCAACTAGCCG	0.448													G|||	182	0.0363419	0.0015	0.0389	5008	,	,		17926	0.001		0.0696	False		,,,				2504	0.0838				p.A196G		Atlas-SNP	.											.	CCPG1	74	.	0			c.C587G						PASS	.	G	GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA	67,3689		0,67,1811	96	90	92		587,587,587,587	1.4	0	15	dbSNP_132	92	607,7603		18,571,3516	yes	missense,missense,missense,missense	CCPG1	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_020739.3	60,60,60,60	18,638,5327	CC,CG,GG		7.3934,1.7838,5.6326	benign,benign,benign,benign	196/808,196/425,196/758,196/758	55664110	674,11292	1878	4105	5983	SO:0001583	missense	9236	exon6			TGTTCAGCAACTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.587C>G	15.37:g.55664110G>C	ENSP00000311656:p.Ala196Gly	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	105	99	0.942857	NM_020739	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	73	0.033424908424908424	1	0.0020325203252032522	16	0.04419889502762431	0	0.0	56	0.07387862796833773	G	6.652	0.488778	0.12641	0.017838	0.073934	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.32515	3.78;3.78;1.45	5.74	1.42	0.22433	.	1.328530	0.04456	N	0.373577	T	0.01905	0.0060	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.16166	0.002;0.016;0.002;0.001	B;B;B;B	0.16289	0.004;0.015;0.006;0.004	T	0.13980	-1.0489	10	0.19590	T	0.45	.	3.2974	0.06971	0.1161:0.1212:0.4335:0.3291	.	196;196;196;52	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	G	196	ENSP00000311656:A196G;ENSP00000403400:A196G;ENSP00000415128:A196G	ENSP00000311656:A196G	A	-	2	0	DYX1C1	53451402	0.000000	0.05858	0.021000	0.16686	0.364000	0.29643	-0.006000	0.12833	0.719000	0.32188	0.655000	0.94253	GCT	G|0.947;C|0.053	0.053	strong		0.448	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		C	55664110	G	C	55664110	3	2	23	1	0	0	0	0	1	0	0	0	2938	971	34	4	1698	4	CCPG1	15	55664110	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16618	55664110	46867282	3508	19964										
CCPG1	9236	hgsc.bcm.edu	37	chr15	55664220	55664220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcactacttgattcatcGtcactaggctgagatgaaaa	7	9	4	3	rs3203152	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55664220G>A	ENST00000310958.6	-	6	775	c.477C>T	c.(475-477)gaC>gaT	p.D159D	CCPG1_ENST00000425574.3_Silent_p.D159D|MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Silent_p.D159D|CCPG1_ENST00000569205.1_Silent_p.D159D	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	159	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTGATTCATCGTCACTAGGCT	0.378													G|||	877	0.17512	0.4811	0.0706	5008	,	,		18918	0.0089		0.0855	False		,,,				2504	0.0992				p.D159D		Atlas-SNP	.											.	CCPG1	74	.	0			c.C477T						PASS	.	G	,,,	1495,2167		307,881,643	64	61	62		477,477,477,477	-11.9	0	15	dbSNP_105	62	735,7439		29,677,3381	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCPG1	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_020739.3	,,,	336,1558,4024	AA,AG,GG		8.9919,40.8247,18.8408	,,,	159/808,159/425,159/758,159/758	55664220	2230,9606	1831	4087	5918	SO:0001819	synonymous_variant	9236	exon6			TTCATCGTCACTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.477C>T	15.37:g.55664220G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	41	40	0.97561	NM_020739	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	CCDS42039.1																																																																																			G|0.852;A|0.148	0.148	strong		0.378	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		A	55664220	G	A	55664220	2	1	23	1	0	0	0	0	0	0	0	1	2938	1136	40	1		1	CCPG1	15	55664220	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	110	55664220	46867172	3509	19965										
DYX1C1	161582	hgsc.bcm.edu	37	chr15	55722882	55722882	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtcattaagattttagttCtgttccttgaattacattcc	5	7	2	2	rs57809907	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55722882C>A	ENST00000321149.3	-	10	1616	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	DYX1C1_ENST00000457155.2_3'UTR|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000348518.3_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	417					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GATTTTAGTTCTGTTCCTTGA	0.338													C|||	879	0.175519	0.4818	0.0706	5008	,	,		13441	0.0089		0.0865	False		,,,				2504	0.0992				p.E417X		Atlas-SNP	.											DYX1C1,NS,carcinoma,+2,1	DYX1C1	54	1	0			c.G1249T	GRCh37	CM035520	DYX1C1	M	rs57809907	PASS	.	C	,,stop/GLU	1825,2559	532.5+/-373.5	383,1059,750	107	107	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,1249	4.7	1	15	dbSNP_129	107	765,7809	181.3+/-230.0	28,709,3550	yes	utr-3,intron,stop-gained	DYX1C1	NM_001033559.2,NM_001033560.1,NM_130810.3	,,	411,1768,4300	AA,AC,CC		8.9223,41.6286,19.9877	,,	,,417/421	55722882	2590,10368	2192	4287	6479	SO:0001587	stop_gained	161582	exon10			TTAGTTCTGTTCC		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1249G>T	15.37:g.55722882C>A	ENSP00000323275:p.Glu417*	Somatic	108	1	0.00925926		WXS	Illumina HiSeq	Phase_I	75	75	1	NM_130810	Q6P5Y9|Q8N1S6	Nonsense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	344	0.1575091575091575	243	0.49390243902439024	26	0.0718232044198895	6	0.01048951048951049	69	0.09102902374670185	C	38	7.101446	0.98063	0.416286	0.089223	ENSG00000256061	ENST00000321149	.	.	.	5.6	4.68	0.58851	.	0.670270	0.13414	U	0.389654	.	.	.	.	.	.	0.09310	P	0.9999999862604	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	7.7377	0.28823	0.0:0.717:0.1348:0.1483	rs57809907	.	.	.	X	417	.	ENSP00000323275:E417X	E	-	1	0	DYX1C1	53510174	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.079000	0.11357	1.350000	0.45770	0.558000	0.71614	GAA	C|0.819;A|0.181	0.181	strong		0.338	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55722882	C	A	55722882	4	1	23	1	0	0	0	0	0	1	0	0	4862	922	32	4	120	4	DYX1C1	15	55722882	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	58662	55722882	46808510	3510	19966										
PRTG	283659	hgsc.bcm.edu	37	chr15	55970041	55970041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggcaatgactttgtctgaAttataaagtggcctctccca	8	9	2	2	rs11854213	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55970041A>G	ENST00000389286.4	-	8	1382	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTTGTCTGAATTATAAAGTG	0.408													A|||	1210	0.241613	0.298	0.1225	5008	,	,		15648	0.4038		0.0964	False		,,,				2504	0.2321				p.N445N		Atlas-SNP	.											.	PRTG	110	.	0			c.T1335C						PASS	.	A		1026,2692		150,726,983	123	116	118		1335	-0.2	1	15	dbSNP_120	118	786,7406		45,696,3355	no	coding-synonymous	PRTG	NM_173814.4		195,1422,4338	GG,GA,AA		9.5947,27.5955,15.2141		445/1151	55970041	1812,10098	1859	4096	5955	SO:0001819	synonymous_variant	283659	exon8			GTCTGAATTATAA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1335T>C	15.37:g.55970041A>G		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	94	27	0.287234	NM_173814		Silent	SNP	ENST00000389286.4	37	CCDS42040.1																																																																																			A|0.787;G|0.213	0.213	strong		0.408	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		G	55970041	A	G	55970041	2	3	23	1	0	0	0	0	0	0	0	1	12638	98	4	2		2	PRTG	15	55970041	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	247159	55970041	46561351	3511	19967										
PRTG	283659	hgsc.bcm.edu	37	chr15	55972797	55972797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtggacctgctataattgTtggtgtgtggaaggattttg	14	4	0	0	rs16976466	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:55972797T>C	ENST00000389286.4	-	5	753	c.706A>G	c.(706-708)Aca>Gca	p.T236A	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCTATAATTGTTGGTGTGTGG	0.353													T|||	1111	0.221845	0.2988	0.1009	5008	,	,		13043	0.3214		0.0974	False		,,,				2504	0.229				p.T236A		Atlas-SNP	.											.	PRTG	110	.	0			c.A706G						PASS	.	T	ALA/THR	1024,2680		152,720,980	172	161	165		706	0.2	0.9	15	dbSNP_123	165	806,7394		42,722,3336	yes	missense	PRTG	NM_173814.4	58	194,1442,4316	CC,CT,TT		9.8293,27.6458,15.373	benign	236/1151	55972797	1830,10074	1852	4100	5952	SO:0001583	missense	283659	exon5			TAATTGTTGGTGT	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.706A>G	15.37:g.55972797T>C	ENSP00000373937:p.Thr236Ala	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	141	29	0.205674	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	423	0.1936813186813187	135	0.27439024390243905	44	0.12154696132596685	170	0.2972027972027972	74	0.09762532981530343	T	10.54	1.379977	0.24944	0.276458	0.098293	ENSG00000166450	ENST00000389286	T	0.66460	-0.21	5.42	0.203	0.15195	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382139	0.28647	N	0.014605	T	0.00012	0.0000	L	0.33753	1.03	0.54753	P	1.8999999999991246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	9	0.12430	T	0.62	-3.5581	6.225	0.20703	0.147:0.4944:0.0:0.3586	rs16976466;rs52831048;rs56497285;rs16976466	236	Q2VWP7	PRTG_HUMAN	A	236	ENSP00000373937:T236A	ENSP00000373937:T236A	T	-	1	0	PRTG	53760089	0.014000	0.17966	0.943000	0.38184	0.750000	0.42670	0.139000	0.16036	0.014000	0.14944	0.377000	0.23210	ACA	C|0.201;N|0.000	0.201	strong		0.353	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		C	55972797	T	C	55972797	3	2	23	1	0	0	0	0	1	0	0	0	12638	1725	60	2	2810	2	PRTG	15	55972797	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2756	55972797	46558595	3512	19968										
CGNL1	84952	hgsc.bcm.edu	37	chr15	57839587	57839587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagtaaagtgctggatgacAtggatgacgacgatgacctc	13	8	0	3	rs16977594	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:57839587A>G	ENST00000281282.5	+	19	3886	c.3808A>G	c.(3808-3810)Atg>Gtg	p.M1270V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1270	Poly-Asp.|Tail.		M -> V (in dbSNP:rs16977594).			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.M1270V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTGGATGACATGGATGACGA	0.557													A|||	531	0.10603	0.2753	0.0274	5008	,	,		19217	0.0308		0.0159	False		,,,				2504	0.1033				p.M1270V		Atlas-SNP	.											CGNL1,NS,carcinoma,0,1	CGNL1	125	1	1	Substitution - Missense(1)	stomach(1)	c.A3808G						PASS	.	A	VAL/MET	950,3434	360.1+/-315.1	108,734,1350	157	163	161		3808	-5.2	0.5	15	dbSNP_123	161	138,8446	69.0+/-131.5	3,132,4157	yes	missense	CGNL1	NM_032866.3	21	111,866,5507	GG,GA,AA		1.6076,21.6697,8.3899	benign	1270/1303	57839587	1088,11880	2192	4292	6484	SO:0001583	missense	84952	exon19			GATGACATGGATG	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3808A>G	15.37:g.57839587A>G	ENSP00000281282:p.Met1270Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	65	15	0.230769	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	169	0.07738095238095238	133	0.2703252032520325	11	0.03038674033149171	15	0.026223776223776224	10	0.013192612137203167	A	4.077	0.012131	0.07912	0.216697	0.016076	ENSG00000128849	ENST00000281282	T	0.75154	-0.91	4.79	-5.17	0.02849	.	0.693382	0.13085	N	0.415016	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12066	-1.0562	9	0.40728	T	0.16	-4.3624	3.2421	0.06784	0.1762:0.1697:0.4551:0.199	rs16977594;rs52812772;rs56614646;rs61651064;rs16977594	1270	Q0VF96	CGNL1_HUMAN	V	1270	ENSP00000281282:M1270V	ENSP00000281282:M1270V	M	+	1	0	CGNL1	55626879	0.000000	0.05858	0.539000	0.28077	0.406000	0.30931	-0.660000	0.05317	-0.788000	0.04504	0.379000	0.24179	ATG	A|0.914;G|0.086	0.086	strong		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		G	57839587	A	G	57839587	3	3	23	1	0	0	0	0	1	0	0	0	3304	217	8	2	3878	2	CGNL1	15	57839587	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1866790	57839587	44691805	3513	19969										
RNF111	54778	hgsc.bcm.edu	37	chr15	59368167	59368167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctagcaggcattgccagtGgacctgagcaacagtggtat	12	9	1	1	rs7178935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:59368167G>A	ENST00000557998.1	+	7	1988	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	RNF111_ENST00000434298.1_Silent_p.V567V|RNF111_ENST00000561186.1_Silent_p.V567V|RNF111_ENST00000559209.1_Silent_p.V567V|RNF111_ENST00000348370.4_Silent_p.V567V	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	567					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)		CATTGCCAGTGGACCTGAGCA	0.393													A|||	2135	0.426318	0.6589	0.451	5008	,	,		16474	0.4563		0.2634	False		,,,				2504	0.2311				p.V567V	NSCLC(72;983 1365 10746 34387 47081)	Atlas-SNP	.											.	RNF111	179	.	0			c.G1701A						PASS	.	A		2650,1734	518.8+/-369.8	824,1002,366	84	74	77		1701	-1.7	1	15	dbSNP_116	77	2367,6215	699.6+/-405.1	348,1671,2272	no	coding-synonymous	RNF111	NM_017610.6		1172,2673,2638	AA,AG,GG		27.581,39.5529,38.6935		567/987	59368167	5017,7949	2192	4291	6483	SO:0001819	synonymous_variant	54778	exon7			GCCAGTGGACCTG	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.1701G>A	15.37:g.59368167G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	46	35	0.76087	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																			G|0.595;A|0.405	0.405	strong		0.393	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		A	59368167	G	A	59368167	2	1	23	1	0	0	0	0	0	0	0	1	13425	1335	47	2		2	RNF111	15	59368167	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1528580	59368167	43163225	3514	19970										
RORA	6095	hgsc.bcm.edu	37	chr15	60803741	60803741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctggtggtcgcgctgCtgctgctgcatccggtgttt	15	11	0	0	rs61740274	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:60803741C>T	ENST00000335670.6	-	5	604	c.504G>A	c.(502-504)caG>caA	p.Q168Q	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Silent_p.Q201Q|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Silent_p.Q193Q|RORA_ENST00000449337.2_Silent_p.Q113Q|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	168	Hinge.|Poly-Gln.				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						GGTCGCGCTGCTGCTGCTGCA	0.542													C|||	219	0.04373	0.0363	0.0634	5008	,	,		18969	0.0		0.0865	False		,,,				2504	0.0409				p.Q201Q		Atlas-SNP	.											.	RORA	114	.	0			c.G603A						PASS	.	C	,,,	225,4181	133.7+/-170.0	4,217,1982	97	77	84		579,603,504,339	5	1	15	dbSNP_129	84	888,7712	199.0+/-243.2	56,776,3468	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RORA	NM_002943.3,NM_134260.2,NM_134261.2,NM_134262.2	,,,	60,993,5450	TT,TC,CC		10.3256,5.1067,8.5576	,,,	193/549,201/557,168/524,113/469	60803741	1113,11893	2203	4300	6503	SO:0001819	synonymous_variant	6095	exon6			GCGCTGCTGCTGC	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.504G>A	15.37:g.60803741C>T		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	146	27	0.184932	NM_134260	P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	CCDS10177.1																																																																																			C|0.924;T|0.076	0.076	strong		0.542	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			T	60803741	C	T	60803741	2	4	23	1	0	0	0	0	0	0	0	1	13528	796	28	2		2	RORA	15	60803741	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1435574	60803741	41727651	3515	19971										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62212781	62212781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagaaatatgaattgccatTtgtggctcaggaataaaatc	9	5	1	2	rs17238189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:62212781T>C	ENST00000261517.5	-	56	7201	c.7128A>G	c.(7126-7128)caA>caG	p.Q2376Q	VPS13C_ENST00000249837.3_Silent_p.Q2333Q|VPS13C_ENST00000395898.3_Silent_p.Q2333Q|VPS13C_ENST00000395896.4_Silent_p.Q2376Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATTGCCATTTGTGGCTCAG	0.303													T|||	603	0.120407	0.093	0.2046	5008	,	,		16094	0.2054		0.0249	False		,,,				2504	0.1084				p.Q2376Q		Atlas-SNP	.											.	VPS13C	506	.	0			c.A7128G						PASS	.	T	,,,	431,3975	199.8+/-223.2	25,381,1797	63	67	65		7128,6999,6999,7128	2.2	1	15	dbSNP_123	65	189,8397	81.2+/-143.8	3,183,4107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	,,,	28,564,5904	CC,CT,TT		2.2013,9.7821,4.7722	,,,	2376/3629,2333/3711,2333/3586,2376/3754	62212781	620,12372	2203	4293	6496	SO:0001819	synonymous_variant	54832	exon56			TGCCATTTGTGGC	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7128A>G	15.37:g.62212781T>C		Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	167	33	0.197605	NM_020821		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																			T|0.930;C|0.070	0.070	strong		0.303	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62212781	T	C	62212781	2	2	23	1	0	0	0	0	0	0	0	1	17188	1838	64	2		2	VPS13C	15	62212781	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1409040	62212781	40318611	3516	19972										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62253954	62253954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtgggatgactataaccgGtgctttcaaatcaatattga	9	7	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:62253954G>T	ENST00000261517.5	-	35	3815	c.3742C>A	c.(3742-3744)Ccg>Acg	p.P1248T	VPS13C_ENST00000249837.3_Missense_Mutation_p.P1205T|VPS13C_ENST00000395898.3_Missense_Mutation_p.P1205T|VPS13C_ENST00000395896.4_Missense_Mutation_p.P1248T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTATAACCGGTGCTTTCAAA	0.458																																					p.P1248T		Atlas-SNP	.											.	VPS13C	506	.	0			c.C3742A						PASS	.						111	110	111					15																	62253954		2203	4300	6503	SO:0001583	missense	54832	exon35			TAACCGGTGCTTT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3742C>A	15.37:g.62253954G>T	ENSP00000261517:p.Pro1248Thr	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	109	8	0.0733945	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186000	0.78789	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.14893	2.47;2.47;2.47	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.76071	0.987;0.982;0.974;0.971	T	0.61520	-0.7046	10	0.87932	D	0	.	14.8531	0.70313	0.0689:0.0:0.9311:0.0	.	1205;1248;1205;1248	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	1205;1248;1248;1248	ENSP00000249837:P1205T;ENSP00000261517:P1248T;ENSP00000379233:P1248T	ENSP00000249837:P1205T	P	-	1	0	VPS13C	60041246	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	9.476000	0.97823	1.434000	0.47414	0.563000	0.77884	CCG	.	.	none		0.458	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62253954	G	T	62253954	3	4	23	1	0	0	0	0	1	0	0	0	17188	1261	44	4	7751	4	VPS13C	15	62253954	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41173	62253954	40277438	3517	19973										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62254989	62254989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaacatctgtgacaataaTattttctagtcgggcaaaaa	6	7	3	1	rs3784635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:62254989T>C	ENST00000261517.5	-	33	3467	c.3394A>G	c.(3394-3396)Att>Gtt	p.I1132V	VPS13C_ENST00000249837.3_Missense_Mutation_p.I1089V|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1089V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1132V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTGACAATAATATTTTCTAGT	0.338													T|||	485	0.096845	0.0038	0.196	5008	,	,		13637	0.2054		0.0298	False		,,,				2504	0.1094				p.I1132V		Atlas-SNP	.											.	VPS13C	506	.	0			c.A3394G						PASS	.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	36,4370	39.2+/-71.8	1,34,2168	74	76	75		3394,3265,3265,3394	3.5	1	15	dbSNP_107	75	213,8387	89.2+/-151.4	3,207,4090	yes	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	29,29,29,29	4,241,6258	CC,CT,TT		2.4767,0.8171,1.9145	benign,benign,benign,benign	1132/3629,1089/3711,1089/3586,1132/3754	62254989	249,12757	2203	4300	6503	SO:0001583	missense	54832	exon33			CAATAATATTTTC	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3394A>G	15.37:g.62254989T>C	ENSP00000261517:p.Ile1132Val	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	130	29	0.223077	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	190	0.08699633699633699	2	0.0040650406504065045	43	0.11878453038674033	116	0.20279720279720279	29	0.03825857519788918	T	9.239	1.037820	0.19669	0.008171	0.024767	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42900	0.96;0.96;0.96	5.8	3.47	0.39725	.	0.221564	0.38897	N	0.001527	T	0.00039	0.0001	M	0.77486	2.375	0.31812	P	0.627054	B;B;B;B	0.32365	0.124;0.367;0.124;0.048	B;B;B;B	0.28232	0.038;0.087;0.065;0.025	T	0.11446	-1.0587	9	0.20519	T	0.43	.	6.7067	0.23254	0.1147:0.1287:0.0:0.7566	rs3784635;rs17304003;rs52829205;rs57619309;rs3784635	1089;1132;1089;1132	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1089;1132;1132;1132	ENSP00000249837:I1089V;ENSP00000261517:I1132V;ENSP00000379233:I1132V	ENSP00000249837:I1089V	I	-	1	0	VPS13C	60042281	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	1.378000	0.34328	0.444000	0.26612	-0.374000	0.07098	ATT	T|0.948;C|0.052	0.052	strong		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62254989	T	C	62254989	3	2	23	1	0	0	0	0	1	0	0	0	17188	1406	49	2	8107	2	VPS13C	15	62254989	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1035	62254989	40276403	3518	19974										
TPM1	7168	hgsc.bcm.edu	37	chr15	63351840	63351840	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagatccaactgaaagaggcCaagcacattgctgaagatgc	11	9	0	5	rs1071646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:63351840C>A	ENST00000403994.3	+	4	533	c.453C>A	c.(451-453)gcC>gcA	p.A151A	TPM1_ENST00000317516.7_Silent_p.A115A|TPM1_ENST00000357980.4_Silent_p.A193A|TPM1_ENST00000358278.3_Silent_p.A151A|TPM1_ENST00000559281.1_Silent_p.A115A|TPM1_ENST00000559397.1_Silent_p.A151A|TPM1_ENST00000267996.7_Silent_p.A151A|TPM1_ENST00000334895.5_Silent_p.A115A|TPM1_ENST00000288398.6_Silent_p.A151A|TPM1_ENST00000404484.4_Silent_p.A115A|TPM1_ENST00000560959.1_Silent_p.A115A|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Silent_p.A151A	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	151					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						TGAAAGAGGCCAAGCACATTG	0.483													C|||	3534	0.705671	0.6112	0.5591	5008	,	,		20013	0.9504		0.66	False		,,,				2504	0.7321				p.A151A		Atlas-SNP	.											.	TPM1	59	.	0			c.C453A						PASS	.	C	,,,,,,	2714,1692	653.2+/-399.5	860,994,349	77	75	76		453,453,453,453,453,345,453	3.7	1	15	dbSNP_86	76	5554,3046	662.0+/-401.9	1805,1944,551	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPM1	NM_000366.5,NM_001018004.1,NM_001018005.1,NM_001018006.1,NM_001018007.1,NM_001018008.1,NM_001018020.1	,,,,,,	2665,2938,900	AA,AC,CC		35.4186,38.4022,36.4293	,,,,,,	151/285,151/285,151/285,151/285,151/285,115/246,151/285	63351840	8268,4738	2203	4300	6503	SO:0001819	synonymous_variant	7168	exon4			AGAGGCCAAGCAC	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.453C>A	15.37:g.63351840C>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	37	5	0.135135	NM_001018007	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	CCDS45273.1																																																																																			C|0.339;A|0.661	0.661	strong		0.483	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		A	63351840	C	A	63351840	2	1	23	1	0	0	0	0	0	0	0	1	16402	581	21	4		4	TPM1	15	63351840	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1096851	63351840	39179552	3519	19975										
RAB8B	51762	hgsc.bcm.edu	37	chr15	63548787	63548787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtgtcaaaagaaagaggGgagaaggtaaatgtgaatgg	15	2	1	4	rs10851726	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:63548787G>A	ENST00000321437.4	+	5	564	c.408G>A	c.(406-408)ggG>ggA	p.G136G	RAB8B_ENST00000448330.2_Silent_p.G136G	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	136					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						AAGAAAGAGGGGAGAAGGTAA	0.333													G|||	1375	0.274561	0.1452	0.2089	5008	,	,		19289	0.4663		0.1521	False		,,,				2504	0.4243				p.G136G		Atlas-SNP	.											.	RAB8B	23	.	0			c.G408A						PASS	.	G		606,3800	263.8+/-265.7	42,522,1639	103	97	99		408	-8.6	0.6	15	dbSNP_120	99	1200,7400	240.7+/-271.3	91,1018,3191	no	coding-synonymous	RAB8B	NM_016530.2		133,1540,4830	AA,AG,GG		13.9535,13.754,13.8859		136/208	63548787	1806,11200	2203	4300	6503	SO:0001819	synonymous_variant	51762	exon5			AAGAGGGGAGAAG	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.408G>A	15.37:g.63548787G>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	60	16	0.266667	NM_016530	Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	37	CCDS10183.1																																																																																			G|0.814;A|0.186	0.186	strong		0.333	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		A	63548787	G	A	63548787	2	1	23	1	0	0	0	0	0	0	0	1	12957	1219	43	2		2	RAB8B	15	63548787	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	196947	63548787	38982605	3520	19976										
PLEKHO2	80301	hgsc.bcm.edu	37	chr15	65158047	65158047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctgggctaagggagaagcGgaaggagctggtgaccctct	16	9	1	2	rs77456635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65158047G>A	ENST00000323544.4	+	6	1561	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	478										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGAGAAGCGGAAGGAGCTG	0.607													G|||	49	0.00978435	0.0008	0.0115	5008	,	,		19769	0.0		0.0239	False		,,,				2504	0.0164				p.R478Q		Atlas-SNP	.											.	PLEKHO2	50	.	0			c.G1433A						PASS	.	G	GLN/ARG,GLN/ARG	33,4371	36.0+/-67.5	0,33,2169	30	31	31		1283,1433	-0.6	1	15	dbSNP_132	31	242,8356	95.2+/-157.0	5,232,4062	yes	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	43,43	5,265,6231	AA,AG,GG		2.8146,0.7493,2.1151	benign,benign	428/441,478/491	65158047	275,12727	2202	4299	6501	SO:0001583	missense	80301	exon6			AGAAGCGGAAGGA	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1433G>A	15.37:g.65158047G>A	ENSP00000326706:p.Arg478Gln	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	17	13	0.764706	NM_025201	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	27	0.012362637362637362	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	21	0.027704485488126648	G	12.58	1.980799	0.34942	0.007493	0.028146	ENSG00000241839	ENST00000323544	T	0.31510	1.49	5.13	-0.638	0.11500	.	0.335637	0.24633	N	0.036878	T	0.04907	0.0132	N	0.19112	0.55	0.28088	N	0.931902	B;B	0.23490	0.086;0.026	B;B	0.16722	0.016;0.004	T	0.22068	-1.0227	10	0.17832	T	0.49	.	8.772	0.34737	0.5539:0.0:0.4461:0.0	.	428;478	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	478	ENSP00000326706:R478Q	ENSP00000326706:R478Q	R	+	2	0	PLEKHO2	62945100	0.998000	0.40836	0.993000	0.49108	0.988000	0.76386	0.377000	0.20552	-0.025000	0.13918	-0.275000	0.10095	CGG	G|0.982;A|0.018	0.018	strong		0.607	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		A	65158047	G	A	65158047	3	1	23	1	0	0	0	0	1	0	0	0	12085	1116	39	1	1455	1	PLEKHO2	15	65158047	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1609260	65158047	37373345	3521	19977										
ANKDD1A	348094	hgsc.bcm.edu	37	chr15	65235776	65235776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgacttaaacctgagagatAaggtacctctgcttacaacc	7	10	1	3	rs34988193	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65235776A>G	ENST00000380230.3	+	11	1092	c.1063A>G	c.(1063-1065)Aag>Gag	p.K355E	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.K264E|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.K355E|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.K355E	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	355			K -> E (in dbSNP:rs34988193). {ECO:0000269|PubMed:15489334}.		signal transduction (GO:0007165)			p.K355E(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCTGAGAGATAAGGTACCTct	0.577													A|||	1233	0.246206	0.1263	0.232	5008	,	,		19679	0.127		0.336	False		,,,				2504	0.4489				p.K355E		Atlas-SNP	.											ANKDD1A,NS,carcinoma,0,1	ANKDD1A	47	1	1	Substitution - Missense(1)	prostate(1)	c.A1063G						PASS	.	A	GLU/LYS	757,3647	307.7+/-290.2	72,613,1517	155	145	148		1063	4.3	1	15	dbSNP_126	148	2971,5627	462.0+/-365.6	514,1943,1842	yes	missense	ANKDD1A	NM_182703.3	56	586,2556,3359	GG,GA,AA		34.5545,17.1889,28.6725	probably-damaging	355/523	65235776	3728,9274	2202	4299	6501	SO:0001583	missense	348094	exon11			AGAGATAAGGTAC		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1063A>G	15.37:g.65235776A>G	ENSP00000369579:p.Lys355Glu	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	102	69	0.676471	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	CCDS10197.2	477	0.2184065934065934	73	0.1483739837398374	85	0.23480662983425415	75	0.13111888111888112	244	0.32189973614775724	A	20.9	4.071106	0.76301	0.171889	0.345545	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.16196	2.38;2.38;2.38;2.36	5.42	4.27	0.50696	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	T	0.00012	0.0000	L	0.38649	1.16	0.09310	P	1.0	D	0.76494	0.999	D	0.68483	0.958	T	0.46105	-0.9215	9	0.36615	T	0.2	-48.4158	11.4729	0.50280	0.8492:0.1508:0.0:0.0	rs34988193;rs61079502;rs34988193	355	Q495B1	AKD1A_HUMAN	E	355;355;355;264	ENSP00000369579:K355E;ENSP00000350329:K355E;ENSP00000379070:K355E;ENSP00000379073:K264E	ENSP00000350329:K355E	K	+	1	0	ANKDD1A	63022829	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.227000	0.89787	1.046000	0.40249	0.533000	0.62120	AAG	A|0.742;G|0.258	0.258	strong		0.577	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		G	65235776	A	G	65235776	3	3	23	1	0	0	0	0	1	0	0	0	624	363	13	2	1105	2	ANKDD1A	15	65235776	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	77729	65235776	37295616	3522	19978										
ANKDD1A	348094	hgsc.bcm.edu	37	chr15	65236875	65236875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaccgccctggcagtggcTgtccgcagcaaccatgtcag	11	14	1	0	rs2414865	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65236875T>C	ENST00000380230.3	+	12	1121	c.1092T>C	c.(1090-1092)gcT>gcC	p.A364A	ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Silent_p.A364A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	364					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGGCAGTGGCTGTCCGCAGCA	0.517													C|||	2769	0.552915	0.7489	0.3573	5008	,	,		19859	0.3909		0.4463	False		,,,				2504	0.7035				p.A364A		Atlas-SNP	.											.	ANKDD1A	47	.	0			c.T1092C						PASS	.	C		3150,1254	429.9+/-342.4	1130,890,182	77	68	71		1092	-3	0.9	15	dbSNP_100	71	3963,4635	600.8+/-394.3	930,2103,1266	no	coding-synonymous	ANKDD1A	NM_182703.3		2060,2993,1448	CC,CT,TT		46.0921,28.4741,45.293		364/523	65236875	7113,5889	2202	4299	6501	SO:0001819	synonymous_variant	348094	exon12			AGTGGCTGTCCGC		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1092T>C	15.37:g.65236875T>C		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	96	95	0.989583	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																			T|0.460;C|0.540	0.540	strong		0.517	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		C	65236875	T	C	65236875	2	2	23	1	0	0	0	0	0	0	0	1	624	1567	55	3		3	ANKDD1A	15	65236875	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1099	65236875	37294517	3523	19979										
RASL12	51285	hgsc.bcm.edu	37	chr15	65357558	65357558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggagtagtttcttacccaAgttggggtcatattcactga	12	7	3	1	rs36045000	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65357558A>G	ENST00000220062.4	-	2	433	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	RASL12_ENST00000434605.2_Silent_p.L42L|RASL12_ENST00000421977.3_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	53					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TTCTTACCCAAGTTGGGGTCA	0.562													A|||	47	0.00938498	0.0227	0.0029	5008	,	,		17164	0.0		0.0129	False		,,,				2504	0.002				p.L53L		Atlas-SNP	.											.	RASL12	32	.	0			c.T157C						PASS	.	A		83,4321	68.7+/-106.4	0,83,2119	133	97	110		157	3.4	1	15	dbSNP_126	110	115,8481	59.8+/-121.6	2,111,4185	no	coding-synonymous	RASL12	NM_016563.2		2,194,6304	GG,GA,AA		1.3378,1.8847,1.5231		53/267	65357558	198,12802	2202	4298	6500	SO:0001819	synonymous_variant	51285	exon2			TACCCAAGTTGGG	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.157T>C	15.37:g.65357558A>G		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	101	18	0.178218	NM_016563	B2RC29|B4DJW2|B4DU82	Silent	SNP	ENST00000220062.4	37	CCDS10200.1																																																																																			A|0.987;G|0.013	0.013	strong		0.562	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		G	65357558	A	G	65357558	2	3	23	1	0	0	0	0	0	0	0	1	13083	69	3	3		3	RASL12	15	65357558	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	120683	65357558	37173834	3524	19980										
IGDCC3	9543	hgsc.bcm.edu	37	chr15	65621441	65621441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacccctgaagtggcagcaCggagagctgggtctcctcac	13	14	2	2	rs12907128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65621441C>A	ENST00000327987.4	-	14	2502	c.2251G>T	c.(2251-2253)Gtg>Ttg	p.V751L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	751			V -> L (in dbSNP:rs12907128). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9922388}.		neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTGGCAGCACGGAGAGCTGG	0.706													C|||	3078	0.614617	0.3744	0.4841	5008	,	,		15867	0.8482		0.5974	False		,,,				2504	0.8088				p.V751L		Atlas-SNP	.											IGDCC3,NS,carcinoma,0,1	IGDCC3	82	1	0			c.G2251T						scavenged	.	C	LEU/VAL	1879,2519		420,1039,740	14	18	17		2251	-5.2	0	15	dbSNP_121	17	4960,3636		1438,2084,776	yes	missense	IGDCC3	NM_004884.3	32	1858,3123,1516	AA,AC,CC		42.2987,42.724,47.368	benign	751/815	65621441	6839,6155	2199	4298	6497	SO:0001583	missense	9543	exon14			GCAGCACGGAGAG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2251G>T	15.37:g.65621441C>A	ENSP00000332773:p.Val751Leu	Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	81	13	0.160494	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	1281	0.5865384615384616	174	0.35365853658536583	183	0.505524861878453	473	0.8269230769230769	451	0.5949868073878628	C	10.92	1.488150	0.26686	0.42724	0.577013	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.64618	-0.11	5.69	-5.23	0.02798	.	0.954563	0.08665	N	0.911846	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.12013	0.005	B	0.04013	0.001	T	0.39210	-0.9625	9	0.22706	T	0.39	-4.3374	0.4385	0.00483	0.3463:0.2056:0.1194:0.3287	rs12907128;rs17854187;rs60161490;rs12907128	751	Q8IVU1	IGDC3_HUMAN	L	751;574	ENSP00000332773:V751L	ENSP00000332773:V751L	V	-	1	0	IGDCC3	63408494	0.638000	0.27225	0.000000	0.03702	0.005000	0.04900	-0.442000	0.06871	-0.789000	0.04498	-1.181000	0.01715	GTG	C|0.461;A|0.539	0.539	strong		0.706	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65621441	C	A	65621441	3	1	23	1	0	0	0	0	1	0	0	0	7568	536	19	4	197	4	IGDCC3	15	65621441	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263883	65621441	36909951	3525	19981										
IGDCC4	57722	hgsc.bcm.edu	37	chr15	65676617	65676617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagatgagatcaggagcctcTggaggcagggggtcctcagg	18	8	3	2	rs2292933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:65676617T>C	ENST00000352385.2	-	20	3692	c.3483A>G	c.(3481-3483)ccA>ccG	p.P1161P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAGGAGCCTCTGGAGGCAGGG	0.627													C|||	2605	0.520168	0.5976	0.5994	5008	,	,		19120	0.6687		0.3926	False		,,,				2504	0.3374				p.P1161P		Atlas-SNP	.											IGDCC4,caecum,carcinoma,-1,1	IGDCC4	95	1	0			c.A3483G						PASS	.	C		2490,1912	520.4+/-370.3	709,1072,420	34	37	36		3483	-2.3	0	15	dbSNP_100	36	3477,5121	611.3+/-395.8	690,2097,1512	no	coding-synonymous	IGDCC4	NM_020962.1		1399,3169,1932	CC,CT,TT		40.4396,43.4348,45.9		1161/1251	65676617	5967,7033	2201	4299	6500	SO:0001819	synonymous_variant	57722	exon20			AGCCTCTGGAGGC		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3483A>G	15.37:g.65676617T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	61	45	0.737705	NM_020962	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																			T|0.516;C|0.484	0.484	strong		0.627	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		C	65676617	T	C	65676617	2	2	23	1	0	0	0	0	0	0	0	1	7569	1567	55	3		3	IGDCC4	15	65676617	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	55176	65676617	36854775	3526	19982										
MEGF11	84465	hgsc.bcm.edu	37	chr15	66214785	66214785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcatggctgggcgcagccGtggccatagaacccaggggg	19	11	0	1	rs11637551	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:66214785G>A	ENST00000409699.2	-	15	2020	c.1848C>T	c.(1846-1848)caC>caT	p.H616H	MEGF11_ENST00000422354.1_Silent_p.H616H|MEGF11_ENST00000288745.3_Silent_p.H541H|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame|MEGF11_ENST00000360698.4_Silent_p.H616H|MEGF11_ENST00000395625.2_Silent_p.H541H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	616					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCGCAGCCGTGGCCATAGA	0.637													G|||	156	0.0311502	0.0038	0.0403	5008	,	,		18705	0.001		0.0964	False		,,,				2504	0.0256				p.H616H		Atlas-SNP	.											.	MEGF11	70	.	0			c.C1848T						PASS	.	G		109,4277		8,93,2092	13	12	13		1848	-10.1	0	15	dbSNP_120	13	761,7815		48,665,3575	yes	coding-synonymous	MEGF11	NM_032445.2		56,758,5667	AA,AG,GG		8.8736,2.4852,6.7119		616/1045	66214785	870,12092	2193	4288	6481	SO:0001819	synonymous_variant	84465	exon15			GCAGCCGTGGCCA	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1848C>T	15.37:g.66214785G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	68	50	0.735294	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	CCDS10213.2																																																																																			G|0.950;A|0.050	0.050	strong		0.637	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		A	66214785	G	A	66214785	2	1	23	1	0	0	0	0	0	0	0	1	9461	1136	40	1		1	MEGF11	15	66214785	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	538168	66214785	36316607	3527	19983										
DIS3L	115752	hgsc.bcm.edu	37	chr15	66618342	66618342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagaattcaaagacttggAtgagaagagcagacaagcca	10	8	1	5	rs3803412	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:66618342A>G	ENST00000319212.4	+	12	1891	c.1841A>G	c.(1840-1842)gAt>gGt	p.D614G	DIS3L_ENST00000319194.5_Missense_Mutation_p.D531G|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	614			D -> G (in dbSNP:rs3803412). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAGACTTGGATGAGAAGAGC	0.453													A|||	1258	0.251198	0.0953	0.3199	5008	,	,		19288	0.3165		0.2952	False		,,,				2504	0.3006				p.D614G		Atlas-SNP	.											.	DIS3L	175	.	0			c.A1841G						PASS	.	A	GLY/ASP,GLY/ASP	608,3794	264.7+/-266.2	35,538,1628	121	113	116		1841,1592	5.3	0.7	15	dbSNP_107	116	2617,5981	423.7+/-354.4	397,1823,2079	yes	missense,missense	DIS3L	NM_001143688.1,NM_133375.3	94,94	432,2361,3707	GG,GA,AA		30.4373,13.8119,24.8077	benign,benign	614/1055,531/972	66618342	3225,9775	2201	4299	6500	SO:0001583	missense	115752	exon12			ACTTGGATGAGAA		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1841A>G	15.37:g.66618342A>G	ENSP00000321711:p.Asp614Gly	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	87	87	1	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	551	0.2522893772893773	46	0.09349593495934959	106	0.292817679558011	172	0.3006993006993007	227	0.2994722955145119	A	9.152	1.016533	0.19355	0.138119	0.304373	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.25250	1.81;1.81	5.31	5.31	0.75309	Ribonuclease II/R (2);	0.391663	0.30999	N	0.008458	T	0.00012	0.0000	N	0.04043	-0.29	0.09310	P	1.0	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.11329	0.006;0.003;0.003	T	0.41088	-0.9528	9	0.36615	T	0.2	-17.8793	14.4288	0.67236	1.0:0.0:0.0:0.0	rs3803412;rs52810111;rs3803412	614;480;614	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	G	531;614	ENSP00000321583:D531G;ENSP00000321711:D614G	ENSP00000321583:D531G	D	+	2	0	DIS3L	64405396	1.000000	0.71417	0.712000	0.30502	0.337000	0.28794	4.706000	0.61845	1.991000	0.58162	0.379000	0.24179	GAT	A|0.760;G|0.240	0.240	strong		0.453	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		G	66618342	A	G	66618342	3	3	23	1	0	0	0	0	1	0	0	0	4536	333	12	2	1887	2	DIS3L	15	66618342	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	403557	66618342	35913050	3528	19984										
MAP2K1	5604	hgsc.bcm.edu	37	chr15	66727483	66727483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggagaactgaaggatgacGactttgagaagatcagtgag	15	4	1	6			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:66727483G>A	ENST00000307102.5	+	2	730	c.199G>A	c.(199-201)Gac>Aac	p.D67N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	67					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.D67N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GAAGGATGACGACTTTGAGAA	0.547																																					p.D67N		Atlas-SNP	.											MAP2K1,NS,lymphoid_neoplasm,0,5	MAP2K1	115	5	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	GRCh37	CM076269	MAP2K1	M		PASS	.						188	174	179					15																	66727483		2201	4299	6500	SO:0001583	missense	5604	exon2			GATGACGACTTTG	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.199G>A	15.37:g.66727483G>A	ENSP00000302486:p.Asp67Asn	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	97	54	0.556701	NM_002755		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.691697|5.691697	0.96793|0.96793	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000307102|ENST00000425818	D|.	0.93859|.	-3.3|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Protein kinase-like domain (1);|.	0.091006|.	0.85682|.	D|.	0.000000|.	T|T	0.76133|0.76133	0.3945|0.3945	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.993|.	D;P|.	0.64687|.	0.928;0.638|.	T|T	0.76211|0.76211	-0.3042|-0.3042	10|5	0.72032|.	D|.	0.01|.	-32.7633|-32.7633	17.8302|17.8302	0.88680|0.88680	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45;67|.	B4DFY5;Q02750|.	.;MP2K1_HUMAN|.	N|Q	67|6	ENSP00000302486:D67N|.	ENSP00000302486:D67N|.	D|R	+|+	1|2	0|0	MAP2K1|MAP2K1	64514537|64514537	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.983000|0.983000	0.72400|0.72400	9.723000|9.723000	0.98772|0.98772	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GAC|CGA	.	.	none		0.547	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			A	66727483	G	A	66727483	3	1	23	1	0	0	0	0	1	0	0	0	9236	1058	37	1	205	1	MAP2K1	15	66727483	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	109141	66727483	35803909	3529	19985										
SMAD3	4088	hgsc.bcm.edu	37	chr15	67473790	67473790	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctgacacggagacacatCggtatggggtggctccattc	14	10	0	2	rs117185005	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:67473790C>T	ENST00000327367.4	+	6	1180	c.870C>T	c.(868-870)atC>atT	p.I290I	SMAD3_ENST00000537194.2_Splice_Site_p.I95I|SMAD3_ENST00000439724.3_Splice_Site_p.I246I|SMAD3_ENST00000540846.2_Splice_Site_p.I185I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	290	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGAGACACATCGGTATGGGGT	0.622													C|||	42	0.00838658	0.0008	0.0043	5008	,	,		9014	0.0		0.0239	False		,,,				2504	0.0143				p.I290I		Atlas-SNP	.											.	SMAD3	119	.	0			c.C870T						PASS	.	C	,,,	22,4380	29.0+/-57.7	0,22,2179	41	39	40		555,738,285,870	-0.9	1	15	dbSNP_132	40	175,8423	78.9+/-141.6	4,167,4128	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SMAD3	NM_001145102.1,NM_001145103.1,NM_001145104.1,NM_005902.3	,,,	4,189,6307	TT,TC,CC		2.0354,0.4998,1.5154	,,,	185/321,246/382,95/231,290/426	67473790	197,12803	2201	4299	6500	SO:0001630	splice_region_variant	4088	exon6			ACACATCGGTATG	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.871+1C>T	15.37:g.67473790C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	35	25	0.714286	NM_005902	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	CCDS10222.1																																																																																			.	.	weak		0.622	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	Silent	T	67473790	C	T	67473790	5	4	23	1	0	0	0	0	0	0	1	0	14759	898	31	1	970	1	SMAD3	15	67473790	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	746307	67473790	35057602	3530	19986										
PIAS1	8554	hgsc.bcm.edu	37	chr15	68479959	68479959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctacactcgtctcggttttTcccgtatacctcctcacaga	5	16	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:68479959T>C	ENST00000249636.6	+	14	1890	c.1742T>C	c.(1741-1743)tTc>tCc	p.F581S	PIAS1_ENST00000545237.1_Missense_Mutation_p.F583S	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	581	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCTCGGTTTTTCCCGTATACC	0.498																																					p.F581S		Atlas-SNP	.											PIAS1,NS,carcinoma,-1,1	PIAS1	42	1	0			c.T1742C						PASS	.						87	84	85					15																	68479959		1919	4137	6056	SO:0001583	missense	8554	exon14			GGTTTTTCCCGTA	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1742T>C	15.37:g.68479959T>C	ENSP00000249636:p.Phe581Ser	Somatic	272	0	0		WXS	Illumina HiSeq	Phase_I	171	16	0.0935673	NM_016166	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317953	0.60524	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.33216	1.43;1.42	5.74	5.74	0.90152	.	0.103576	0.64402	D	0.000002	T	0.26011	0.0634	L	0.39898	1.24	0.51233	D	0.999913	P	0.40000	0.698	B	0.32211	0.142	T	0.07233	-1.0783	10	0.87932	D	0	-15.7775	16.0292	0.80564	0.0:0.0:0.0:1.0	.	581	O75925	PIAS1_HUMAN	S	581;583	ENSP00000249636:F581S;ENSP00000438574:F583S	ENSP00000249636:F581S	F	+	2	0	PIAS1	66267013	1.000000	0.71417	0.918000	0.36340	0.518000	0.34316	7.420000	0.80191	2.187000	0.69744	0.533000	0.62120	TTC	.	.	none		0.498	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			C	68479959	T	C	68479959	3	2	23	1	0	0	0	0	1	0	0	0	11875	1783	62	2	1796	2	PIAS1	15	68479959	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1006169	68479959	34051433	3531	19987										
ITGA11	22801	hgsc.bcm.edu	37	chr15	68606192	68606192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcttccttggtgctgtccCgctcattactgtcactgcaa	8	13	3	0	rs368307734		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:68606192C>T	ENST00000315757.7	-	23	2893	c.2807G>A	c.(2806-2808)cGg>cAg	p.R936Q	ITGA11_ENST00000423218.2_Missense_Mutation_p.R936Q	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	936					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGTGCTGTCCCGCTCATTACT	0.637																																					p.R936Q		Atlas-SNP	.											.	ITGA11	110	.	0			c.G2807A						PASS	.	C	GLN/ARG	0,4316		0,0,2158	80	84	83		2807	2.6	1	15		83	2,8508		0,2,4253	no	missense	ITGA11	NM_001004439.1	43	0,2,6411	TT,TC,CC		0.0235,0.0,0.0156	benign	936/1189	68606192	2,12824	2158	4255	6413	SO:0001583	missense	22801	exon23			CTGTCCCGCTCAT	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2807G>A	15.37:g.68606192C>T	ENSP00000327290:p.Arg936Gln	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	100	78	0.78	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386513	0.25031	0.0	2.35E-4	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.39997	1.05;1.05	4.94	2.58	0.30949	Integrin alpha-2 (1);	0.362684	0.31071	N	0.008308	T	0.14657	0.0354	N	0.02539	-0.55	0.22581	N	0.998964	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.001	T	0.24297	-1.0164	10	0.15499	T	0.54	.	5.5239	0.16947	0.1525:0.0858:0.0:0.7617	.	936;936	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Q	936;936;571	ENSP00000327290:R936Q;ENSP00000403392:R936Q	ENSP00000327290:R936Q	R	-	2	0	ITGA11	66393246	0.984000	0.35163	0.987000	0.45799	0.698000	0.40448	2.853000	0.48317	0.228000	0.21019	-0.367000	0.07326	CGG	.	.	weak		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68606192	C	T	68606192	3	4	23	1	0	0	0	0	1	0	0	0	7874	652	23	1	791	1	ITGA11	15	68606192	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126233	68606192	33925200	3532	19988										
NOX5	79400	hgsc.bcm.edu	37	chr15	69328226	69328226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgctgctgctgctcctcCtcatgttcatctgctccagt	7	16	4	0	rs12907196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:69328226C>T	ENST00000388866.3	+	7	1179	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	NOX5_ENST00000455873.3_Missense_Mutation_p.L345F|NOX5_ENST00000448182.3_Missense_Mutation_p.L334F|NOX5_ENST00000530406.2_Missense_Mutation_p.L352F|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Missense_Mutation_p.L362F	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTGCTCCTCCTCATGTTCAT	0.607													C|||	1358	0.271166	0.1135	0.33	5008	,	,		18072	0.124		0.5358	False		,,,				2504	0.3221				p.L380F		Atlas-SNP	.											.	NOX5	60	.	0			c.C1138T						PASS	.	C	PHE/LEU,PHE/LEU,PHE/LEU	756,3644	309.1+/-290.9	69,618,1513	130	105	113		1054,1033,1138	1.2	0.4	15	dbSNP_121	113	4772,3824	611.8+/-395.9	1312,2148,838	yes	missense,missense,missense	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	22,22,22	1381,2766,2351	TT,TC,CC		44.4858,17.1818,42.5362	possibly-damaging,possibly-damaging,possibly-damaging	352/738,345/731,380/766	69328226	5528,7468	2200	4298	6498	SO:0001583	missense	79400	exon7			CTCCTCCTCATGT	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1138C>T	15.37:g.69328226C>T	ENSP00000373518:p.Leu380Phe	Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	81	80	0.987654	NM_024505	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	CCDS32276.2	673	0.30815018315018317	54	0.10975609756097561	128	0.35359116022099446	79	0.1381118881118881	412	0.5435356200527705	C	14.65	2.599053	0.46318	0.171818	0.555142	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.92965	-3.14;-3.14;-3.14	3.38	1.18	0.20946	Flavoprotein transmembrane component (1);	0.376029	0.24347	N	0.039319	T	0.00012	0.0000	M	0.69248	2.105	0.24350	P	0.99492859	B;D;P	0.56287	0.303;0.975;0.886	B;P;P	0.56088	0.158;0.791;0.598	T	0.22312	-1.0220	9	0.45353	T	0.12	-12.2301	6.6006	0.22699	0.1777:0.5554:0.2669:0.0	rs12907196;rs35425174;rs60520952;rs12907196	345;380;352	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	F	345;362;380;352	ENSP00000416828:L345F;ENSP00000373518:L380F;ENSP00000432440:L352F	ENSP00000373518:L380F	L	+	1	0	NOX5	67115280	0.609000	0.26975	0.434000	0.26772	0.448000	0.32197	0.984000	0.29565	1.433000	0.47394	0.313000	0.20887	CTC	C|0.650;T|0.350	0.350	strong		0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69328226	C	T	69328226	3	4	23	1	0	0	0	0	1	0	0	0	10559	681	24	2	1197	2	NOX5	15	69328226	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	722034	69328226	33203166	3533	19989										
MYO9A	4649	hgsc.bcm.edu	37	chr15	72180440	72180440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgcttgttcatcaactgaCgaaaatcgctgtgatgtctg	9	8	3	2	rs148060237	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:72180440C>T	ENST00000356056.5	-	27	5632	c.5160G>A	c.(5158-5160)tcG>tcA	p.S1720S	MYO9A_ENST00000564571.1_Silent_p.S1720S|MYO9A_ENST00000444904.1_Silent_p.S1701S|MYO9A_ENST00000563542.1_5'Flank|MYO9A_ENST00000424560.1_Silent_p.S1791S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1720	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						CATCAACTGACGAAAATCGCT	0.333													C|||	38	0.00758786	0.0008	0.0072	5008	,	,		17410	0.0		0.0288	False		,,,				2504	0.0031				p.S1720S		Atlas-SNP	.											.	MYO9A	203	.	0			c.G5160A						PASS	.	C		17,4379	24.3+/-50.5	0,17,2181	119	110	113		5160	0.3	1	15	dbSNP_134	113	186,8408	84.0+/-146.5	1,184,4112	no	coding-synonymous	MYO9A	NM_006901.2		1,201,6293	TT,TC,CC		2.1643,0.3867,1.5627		1720/2549	72180440	203,12787	2198	4297	6495	SO:0001819	synonymous_variant	4649	exon27			AACTGACGAAAAT	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.5160G>A	15.37:g.72180440C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	57	16	0.280702	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																			C|0.983;T|0.017	0.017	strong		0.333	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72180440	C	T	72180440	2	4	23	1	0	0	0	0	0	0	0	1	10084	523	19	1		1	MYO9A	15	72180440	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2852214	72180440	30350952	3534	19990										
PKM2	5315	hgsc.bcm.edu	37	chr15	72501072	72501072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgccttgcggatgaatgaCgcaaacaccatatcaacatc	8	11	1	2	rs11558376	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:72501072C>T	ENST00000335181.5	-	6	829	c.726G>A	c.(724-726)gcG>gcA	p.A242A	PKM_ENST00000449901.2_Silent_p.A227A|PKM_ENST00000389093.3_Silent_p.A242A|PKM_ENST00000568883.1_Silent_p.A77A|PKM_ENST00000565184.1_Silent_p.A242A|PKM_ENST00000565154.1_Silent_p.A242A|PKM_ENST00000319622.6_Silent_p.A242A|PKM_ENST00000568459.1_Silent_p.A242A	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	242					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GGATGAATGACGCAAACACCA	0.493													C|||	4	0.000798722	0.0	0.0	5008	,	,		21170	0.0		0.004	False		,,,				2504	0.0				p.A316A		Atlas-SNP	.											PKM2,NS,neuroblastoma,-1,2	PKM	25	2	0			c.G948A						PASS	.	C	,,,,,,	1,4397	2.1+/-5.4	0,1,2198	203	180	188		948,504,681,741,726,726,726	-10.5	0.5	15	dbSNP_120	188	15,8579	11.2+/-40.8	0,15,4282	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PKM2	NM_001206796.1,NM_001206797.1,NM_001206798.1,NM_001206799.1,NM_002654.4,NM_182470.2,NM_182471.2	,,,,,,	0,16,6480	TT,TC,CC		0.1745,0.0227,0.1232	,,,,,,	316/606,168/458,227/517,247/537,242/532,242/532,242/532	72501072	16,12976	2199	4297	6496	SO:0001819	synonymous_variant	5315	exon7			GAATGACGCAAAC	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.726G>A	15.37:g.72501072C>T		Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	85	64	0.752941	NM_001206796	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	CCDS32284.1																																																																																			C|0.999;T|0.001	0.001	strong		0.493	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			T	72501072	C	T	72501072	2	4	23	1	0	0	0	0	0	0	0	1	11977	523	19	1		1	PKM2	15	72501072	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	320632	72501072	30030320	3535	19991										
C15orf59	388135	hgsc.bcm.edu	37	chr15	74032783	74032783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacggagtccgagggggtAgagacgtccaggaaggagca	17	9	0	1	rs28594180	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74032783A>G	ENST00000569673.1	-	3	1561	c.357T>C	c.(355-357)tcT>tcC	p.S119S	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.S119S			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	119										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCGAGGGGGTAGAGACGTCCA	0.642													A|||	2244	0.448083	0.2761	0.4669	5008	,	,		17151	0.5853		0.4056	False		,,,				2504	0.5695				p.S119S		Atlas-SNP	.											C15orf59,NS,carcinoma,0,1	C15orf59	38	1	0			c.T357C						PASS	.	A		1346,3050	435.1+/-344.2	218,910,1070	82	85	84		357	-3.5	0.7	15	dbSNP_125	84	3473,5119	490.6+/-372.9	712,2049,1535	no	coding-synonymous	C15orf59	NM_001039614.1		930,2959,2605	GG,GA,AA		40.4213,30.6187,37.1035		119/294	74032783	4819,8169	2198	4296	6494	SO:0001819	synonymous_variant	388135	exon2			GGGGGTAGAGACG		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.357T>C	15.37:g.74032783A>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	44	43	0.977273	NM_001039614		Silent	SNP	ENST00000569673.1	37	CCDS32289.1																																																																																			A|0.610;G|0.390;T|0.000	0.390	strong		0.642	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		G	74032783	A	G	74032783	2	3	23	1	0	0	0	0	0	0	0	1	1807	407	15	3		3	C15orf59	15	74032783	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1531711	74032783	28498609	3536	19992										
PML	5371	hgsc.bcm.edu	37	chr15	74328206	74328206	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtccaagtgcctctggaaGcctctccaattacattccca	6	14	2	0	rs743582	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74328206G>C	ENST00000268058.3	+	7	1806				PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Missense_Mutation_p.A802P|PML_ENST00000354026.6_Missense_Mutation_p.A754P|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCCTCTGGAAGCCTCTCCAAT	0.622			T	"RARA, PAX5"	"APL, ALL"								G|||	785	0.156749	0.1127	0.0591	5008	,	,		14618	0.2371		0.0964	False		,,,				2504	0.2648				p.A802P		Atlas-SNP	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML	169	.	0			c.G2404C						PASS	.	G	,,PRO/ALA,,,,,,PRO/ALA	441,3955	196.0+/-220.5	18,405,1775	82	101	95		,,2404,,,,,,2260	1.2	0	15	dbSNP_86	95	815,7779	185.0+/-232.9	37,741,3519	yes	intron,intron,missense,utr-3,utr-3,intron,intron,intron,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	,,27,,,,,,27	55,1146,5294	CC,CG,GG		9.4834,10.0318,9.669	,,,,,,,,	,,802/830,,,,,,754/782	74328206	1256,11734	2198	4297	6495	SO:0001627	intron_variant	5371	exon8			CTGGAAGCCTCTC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1335G>C	15.37:g.74328206G>C		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	35	11	0.314286	NM_033239	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	258	0.11813186813186813	47	0.09552845528455285	24	0.06629834254143646	120	0.2097902097902098	67	0.08839050131926121	G	9.783	1.175788	0.21704	0.100318	0.094834	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.17	1.22	0.21188	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.19192	-1.0313	7	0.54805	T	0.06	.	4.5986	0.12341	0.1275:0.2266:0.6459:0.0	rs743582;rs743582	754;802	P29590-13;P29590-8	.;.	P	802;754	.	ENSP00000268059:A802P	A	+	1	0	PML	72115259	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	0.631000	0.24568	0.355000	0.24131	0.456000	0.33151	GCC	G|0.888;C|0.112	0.112	strong		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		C	74328206	G	C	74328206	1	2	23	0	1	0	0	0	0	0	0	0	12135	971	34	4		4	PML	15	74328206	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295423	74328206	28203186	3537	19993										
PML	5371	hgsc.bcm.edu	37	chr15	74336656	74336656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagcatctactccaaggcCgtgtccctggaggtggggct	13	12	2	0	rs61751122	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74336656C>T	ENST00000268058.3	+	9	2052	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	PML_ENST00000565898.1_Silent_p.A604A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	652					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACTCCAAGGCCGTGTCCCTGG	0.617			T	"RARA, PAX5"	"APL, ALL"								C|||	172	0.034345	0.0893	0.0173	5008	,	,		17889	0.001		0.0159	False		,,,				2504	0.0256				p.A652A		Atlas-SNP	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML	169	.	0			c.C1956T						PASS	.	C		319,4077	170.1+/-200.6	6,307,1885	70	67	68		1956	-10.4	0.1	15	dbSNP_129	68	168,8426	78.4+/-141.0	2,164,4131	no	coding-synonymous	PML	NM_033238.2		8,471,6016	TT,TC,CC		1.9549,7.2566,3.749		652/883	74336656	487,12503	2198	4297	6495	SO:0001819	synonymous_variant	5371	exon9			CAAGGCCGTGTCC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1956C>T	15.37:g.74336656C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	40	32	0.8	NM_033238	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																			C|0.967;T|0.033	0.033	strong		0.617	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74336656	C	T	74336656	2	4	23	1	0	0	0	0	0	0	0	1	12135	639	23	1		1	PML	15	74336656	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8450	74336656	28194736	3538	19994										
ISLR	3671	hgsc.bcm.edu	37	chr15	74467856	74467856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccatgtgctcaagggtacGccgctgagccgcctgccgcc	12	18	1	1	rs1052622	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74467856G>A	ENST00000249842.3	+	2	1014	c.657G>A	c.(655-657)acG>acA	p.T219T	ISLR_ENST00000395118.1_Silent_p.T219T|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	219	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCAAGGGTACGCCGCTGAGCC	0.667													G|||	2933	0.585663	0.407	0.7104	5008	,	,		15910	0.5615		0.6988	False		,,,				2504	0.6472				p.T219T		Atlas-SNP	.											ISLR,NS,carcinoma,0,1	ISLR	49	1	0			c.G657A						PASS	.	G	,	2058,2338	542.2+/-376.0	503,1052,643	39	36	37		657,657	-8.4	0.1	15	dbSNP_86	37	5860,2734	654.2+/-401.1	2005,1850,442	no	coding-synonymous,coding-synonymous	ISLR	NM_005545.3,NM_201526.1	,	2508,2902,1085	AA,AG,GG		31.8129,46.8153,39.0454	,	219/429,219/429	74467856	7918,5072	2198	4297	6495	SO:0001819	synonymous_variant	3671	exon2			GGGTACGCCGCTG	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.657G>A	15.37:g.74467856G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_201526		Silent	SNP	ENST00000249842.3	37	CCDS10260.1																																																																																			G|0.400;A|0.600	0.600	strong		0.667	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		A	74467856	G	A	74467856	2	1	23	1	0	0	0	0	0	0	0	1	7858	1074	38	1		1	ISLR	15	74467856	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131200	74467856	28063536	3539	19995										
CCDC33	80125	hgsc.bcm.edu	37	chr15	74622533	74622533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctctgggatccacaggagAtgaacaactaccggcgggcc	14	12	1	2	rs2277603	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74622533A>G	ENST00000398814.3	+	12	1725	c.1294A>G	c.(1294-1296)Atg>Gtg	p.M432V	CCDC33_ENST00000268082.4_Missense_Mutation_p.M25V|CCDC33_ENST00000558821.1_Missense_Mutation_p.M25V|CCDC33_ENST00000321288.5_Missense_Mutation_p.M635V	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	635										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCACAGGAGATGAACAACTA	0.582													A|||	602	0.120208	0.0121	0.0692	5008	,	,		18218	0.2222		0.0875	False		,,,				2504	0.2311				p.M432V		Atlas-SNP	.											.	CCDC33	160	.	0			c.A1294G						PASS	.	A	VAL/MET,VAL/MET	99,3977		2,95,1941	40	44	42		1294,73	-2.5	0.6	15	dbSNP_100	42	791,7553		36,719,3417	yes	missense,missense	CCDC33	NM_025055.3,NM_182791.2	21,21	38,814,5358	GG,GA,AA		9.4799,2.4289,7.1659	benign,benign	432/756,25/368	74622533	890,11530	2038	4172	6210	SO:0001583	missense	80125	exon12			CAGGAGATGAACA	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1294A>G	15.37:g.74622533A>G	ENSP00000381795:p.Met432Val	Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	156	101	0.647436	NM_025055	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	218	0.09981684981684982	9	0.018292682926829267	37	0.10220994475138122	111	0.19405594405594406	61	0.08047493403693931	A	3.593	-0.083181	0.07141	0.024289	0.094799	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34667	1.35;2.33;1.97;1.95	4.3	-2.45	0.06481	.	0.524699	0.20717	N	0.086996	T	0.00039	0.0001	M	0.70595	2.14	0.58432	P	5.000000000032756E-6	B;B;B;B	0.27351	0.065;0.081;0.176;0.038	B;B;B;B	0.20577	0.022;0.03;0.025;0.015	T	0.10800	-1.0614	9	0.62326	D	0.03	.	0.5572	0.00673	0.249:0.1459:0.1791:0.4261	rs2277603;rs56484983;rs56997916;rs2277603	25;25;635;432	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	V	635;432;25;25	ENSP00000325012:M635V;ENSP00000381795:M432V;ENSP00000325661:M25V;ENSP00000268082:M25V	ENSP00000268082:M25V	M	+	1	0	CCDC33	72409586	0.003000	0.15002	0.612000	0.29024	0.021000	0.10359	-0.893000	0.04127	-0.324000	0.08589	-0.353000	0.07706	ATG	A|0.887;G|0.113;T|0.000	0.113	strong		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		G	74622533	A	G	74622533	3	3	23	1	0	0	0	0	1	0	0	0	2806	333	12	2	1413	2	CCDC33	15	74622533	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	154677	74622533	27908859	3540	19996										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74703022	74703022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccccagccagagggaggcGgccagggcacaggcatgacc	15	15	0	2	rs2075592	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74703022G>A	ENST00000261918.4	-	14	2492	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	SEMA7A_ENST00000543145.2_Silent_p.A634A|SEMA7A_ENST00000542748.1_Silent_p.A483A	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	648					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGAGGGAGGCGGCCAGGGCAC	0.687													G|||	910	0.181709	0.4002	0.036	5008	,	,		16063	0.1915		0.0467	False		,,,				2504	0.1186				p.A648A		Atlas-SNP	.											.	SEMA7A	58	.	0			c.C1944T						PASS	.	G	,,	1413,2981	431.6+/-343.0	229,955,1013	43	45	44		1902,1449,1944	-9.1	0	15	dbSNP_96	44	390,8196	120.6+/-179.8	13,364,3916	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	242,1319,4929	AA,AG,GG		4.5423,32.1575,13.8906	,,	634/653,483/502,648/667	74703022	1803,11177	2197	4293	6490	SO:0001819	synonymous_variant	8482	exon14			GGAGGCGGCCAGG	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1944C>T	15.37:g.74703022G>A		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	111	78	0.702703	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.857;A|0.143	0.143	strong		0.687	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		A	74703022	G	A	74703022	2	1	23	1	0	0	0	0	0	0	0	1	14043	1103	39	1		1	SEMA7A	15	74703022	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	80489	74703022	27828370	3541	19997										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74703929	74703929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagatggagatgcagcggccTtggtcccagccgcagtaggg	16	10	0	2	rs741761	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74703929T>C	ENST00000261918.4	-	12	2093	c.1545A>G	c.(1543-1545)caA>caG	p.Q515Q	SEMA7A_ENST00000543145.2_Silent_p.Q501Q|SEMA7A_ENST00000542748.1_Silent_p.Q350Q	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	515					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCAGCGGCCTTGGTCCCAGC	0.662													C|||	2479	0.495008	0.7073	0.2421	5008	,	,		17720	0.5496		0.2654	False		,,,				2504	0.5675				p.Q515Q		Atlas-SNP	.											.	SEMA7A	58	.	0			c.A1545G						PASS	.	C	,,	2850,1544	482.1+/-359.3	923,1004,270	50	56	54	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1503,1050,1545	1.1	1	15	dbSNP_86	54	2247,6345	706.2+/-405.5	318,1611,2367	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	1241,2615,2637	CC,CT,TT		26.1522,35.1388,39.25	,,	501/653,350/502,515/667	74703929	5097,7889	2197	4296	6493	SO:0001819	synonymous_variant	8482	exon12			GCGGCCTTGGTCC	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1545A>G	15.37:g.74703929T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	55	46	0.836364	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			T|0.582;C|0.418	0.418	strong		0.662	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		C	74703929	T	C	74703929	2	2	23	1	0	0	0	0	0	0	0	1	14043	1606	56	3		3	SEMA7A	15	74703929	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	907	74703929	27827463	3542	19998										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74706943	74706943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggctggcttgcatgcggtgGacggccactttctggtagtg	16	9	1	0	rs1046146	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:74706943G>A	ENST00000261918.4	-	10	1787	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	SEMA7A_ENST00000543145.2_Silent_p.V399V|SEMA7A_ENST00000542748.1_Silent_p.V248V	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	413	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCATGCGGTGGACGGCCACTT	0.572													G|||	922	0.184105	0.3986	0.036	5008	,	,		17268	0.1915		0.0467	False		,,,				2504	0.1329				p.V413V		Atlas-SNP	.											.	SEMA7A	58	.	0			c.C1239T						PASS	.	G	,,	1418,2976	463.0+/-353.4	231,956,1010	98	103	101		1197,744,1239	-6.2	0.7	15	dbSNP_86	101	392,8200	125.5+/-184.1	13,366,3917	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	244,1322,4927	AA,AG,GG		4.5624,32.2713,13.9381	,,	399/653,248/502,413/667	74706943	1810,11176	2197	4296	6493	SO:0001819	synonymous_variant	8482	exon10			GCGGTGGACGGCC	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1239C>T	15.37:g.74706943G>A		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	147	108	0.734694	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.846;A|0.154	0.154	strong		0.572	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		A	74706943	G	A	74706943	2	1	23	1	0	0	0	0	0	0	0	1	14043	1161	41	2		2	SEMA7A	15	74706943	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3014	74706943	27824449	3543	19999										
LMAN1L	79748	hgsc.bcm.edu	37	chr15	75113023	75113023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcagctccgcctggcgagGcagctggaagggctgtgggc	18	12	0	0	rs145422132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75113023G>A	ENST00000309664.5	+	8	961	c.822G>A	c.(820-822)agG>agA	p.R274R	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.R262R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	274						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTGGCGAGGCAGCTGGAAG	0.602													G|||	47	0.00938498	0.0	0.0115	5008	,	,		20497	0.0		0.0298	False		,,,				2504	0.0092				p.R274R		Atlas-SNP	.											.	LMAN1L	43	.	0			c.G822A						PASS	.	G		32,4362	37.6+/-69.7	0,32,2165	71	72	72		822	3.5	0.8	15	dbSNP_134	72	292,8300	107.4+/-168.2	4,284,4008	no	coding-synonymous	LMAN1L	NM_021819.2		4,316,6173	AA,AG,GG		3.3985,0.7283,2.495		274/527	75113023	324,12662	2197	4296	6493	SO:0001819	synonymous_variant	79748	exon8			GGCGAGGCAGCTG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.822G>A	15.37:g.75113023G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_021819	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																			G|0.980;A|0.020	0.020	strong		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75113023	G	A	75113023	2	1	23	1	0	0	0	0	0	0	0	1	8837	1194	42	2		2	LMAN1L	15	75113023	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	406080	75113023	27418369	3544	20000										
SCAMP5	192683	hgsc.bcm.edu	37	chr15	75308976	75308976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacctggtgggctgtctcgCgtggctgatcggaggcgggg	20	9	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75308976C>T	ENST00000361900.6	+	5	386	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SCAMP5_ENST00000425597.3_Missense_Mutation_p.A60V|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.A60V|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000568081.1_5'Flank	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GGCTGTCTCGCGTGGCTGATC	0.612																																					p.A60V		Atlas-SNP	.											.	SCAMP5	34	.	0			c.C179T						PASS	.						107	111	109					15																	75308976		2165	4255	6420	SO:0001583	missense	192683	exon5			GTCTCGCGTGGCT	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.179C>T	15.37:g.75308976C>T	ENSP00000355387:p.Ala60Val	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	67	33	0.492537	NM_001178111	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087901	0.94100	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18016	2.24;2.24	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.45352	1.415	0.80722	D	1	P;D	0.71674	0.842;0.998	B;D	0.63793	0.214;0.918	T	0.03443	-1.1036	10	0.59425	D	0.04	-8.1334	17.2941	0.87166	0.0:1.0:0.0:0.0	.	60;60	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	V	60	ENSP00000355387:A60V;ENSP00000406547:A60V	ENSP00000355387:A60V	A	+	2	0	SCAMP5	73096029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.391000	0.81399	0.561000	0.74099	GCG	.	.	none		0.612	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		T	75308976	C	T	75308976	3	4	23	1	0	0	0	0	1	0	0	0	13874	768	27	1	189	1	SCAMP5	15	75308976	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	195953	75308976	27222416	3545	20001										
C15orf39	56905	hgsc.bcm.edu	37	chr15	75499995	75499995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccacagctgagcctgacTcagccccagccaccagtgaa	9	17	1	3	rs28509789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75499995T>G	ENST00000360639.2	+	2	1926	c.1606T>G	c.(1606-1608)Tca>Gca	p.S536A	C15orf39_ENST00000394987.4_Missense_Mutation_p.S536A|C15orf39_ENST00000567617.1_Missense_Mutation_p.S536A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	536			S -> A (in dbSNP:rs28509789). {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGCCTGACTCAGCCCCAGC	0.617													T|||	1965	0.392372	0.4697	0.4078	5008	,	,		18530	0.3264		0.2773	False		,,,				2504	0.4632				p.S536A		Atlas-SNP	.											C15orf39,bladder,carcinoma,-1,1	C15orf39	64	1	0			c.T1606G						PASS	.	T	ALA/SER	1955,2437		448,1059,689	25	26	26		1606	-3.5	0	15	dbSNP_125	26	2337,6247		327,1683,2282	yes	missense	C15orf39	NM_015492.4	99	775,2742,2971	GG,GT,TT		27.2251,44.5128,33.0764	benign	536/1048	75499995	4292,8684	2196	4292	6488	SO:0001583	missense	56905	exon2			CCTGACTCAGCCC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1606T>G	15.37:g.75499995T>G	ENSP00000353854:p.Ser536Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	82	16	0.195122	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	749	0.34294871794871795	224	0.45528455284552843	141	0.38950276243093923	189	0.3304195804195804	195	0.25725593667546176	T	3.832	-0.035507	0.07497	0.445128	0.272251	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.80393	-1.37;-1.37	4.84	-3.54	0.04653	.	1.653880	0.03470	N	0.213444	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.08381	T	0.77	.	0.2702	0.00230	0.2813:0.1842:0.2851:0.2495	rs28509789	536	Q6ZRI6	CO039_HUMAN	A	536	ENSP00000353854:S536A;ENSP00000378438:S536A	ENSP00000353854:S536A	S	+	1	0	C15orf39	73287048	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.873000	0.04214	-0.640000	0.05495	0.460000	0.39030	TCA	T|0.662;G|0.338	0.338	strong		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		G	75499995	T	G	75499995	3	3	23	1	0	0	0	0	1	0	0	0	1793	1551	54	5	1608	5	C15orf39	15	75499995	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	191019	75499995	27031397	3546	20002										
CSPG4	1464	hgsc.bcm.edu	37	chr15	75970070	75970070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttccagaggtggctggggCgctggggacaggcagcctca	17	11	2	1	rs8023621	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75970070C>T	ENST00000308508.5	-	9	5200	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1703	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.		R -> H (in dbSNP:rs8023621).		activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGGCTGGGGCGCTGGGGACA	0.632													C|||	1317	0.262979	0.1634	0.3919	5008	,	,		18353	0.1885		0.3787	False		,,,				2504	0.2638				p.R1703H		Atlas-SNP	.											.	CSPG4	175	.	0			c.G5108A						PASS	.	C	HIS/ARG	887,3507	328.5+/-300.6	90,707,1400	82	84	83		5108	3.1	1	15	dbSNP_116	83	3435,5153	481.0+/-370.5	696,2043,1555	yes	missense	CSPG4	NM_001897.4	29	786,2750,2955	TT,TC,CC		39.9977,20.1866,33.2923	benign	1703/2323	75970070	4322,8660	2197	4294	6491	SO:0001583	missense	1464	exon9			CTGGGGCGCTGGG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5108G>A	15.37:g.75970070C>T	ENSP00000312506:p.Arg1703His	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	107	104	0.971963	NM_001897	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	573	0.2623626373626374	73	0.1483739837398374	129	0.356353591160221	80	0.13986013986013987	291	0.3839050131926121	C	15.05	2.717852	0.48622	0.201866	0.399977	ENSG00000173546	ENST00000308508	T	0.20200	2.09	4.96	3.09	0.35607	.	0.176621	0.40302	N	0.001133	T	0.00012	0.0000	L	0.38531	1.155	0.25196	P	0.99009862	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	9	0.41790	T	0.15	.	5.5851	0.17269	0.1563:0.6778:0.0:0.1659	rs8023621;rs8023621	1703	Q6UVK1	CSPG4_HUMAN	H	1703	ENSP00000312506:R1703H	ENSP00000312506:R1703H	R	-	2	0	CSPG4	73757125	0.994000	0.37717	0.998000	0.56505	0.997000	0.91878	1.492000	0.35594	0.521000	0.28445	0.555000	0.69702	CGC	C|0.707;T|0.293	0.293	strong		0.632	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75970070	C	T	75970070	3	4	23	1	0	0	0	0	1	0	0	0	3960	768	27	1	1868	1	CSPG4	15	75970070	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	470075	75970070	26561322	3547	20003										
CSPG4	1464	hgsc.bcm.edu	37	chr15	75982119	75982119	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctgatagtcagcagctgGgtgaaattggcaaagacagg	16	6	1	3	rs199778089	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75982119G>T	ENST00000308508.5	-	3	1379	c.1287C>A	c.(1285-1287)acC>acA	p.T429T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	429	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCAGCAGCTGGGTGAAATTGG	0.642																																					p.T429T		Atlas-SNP	.											CSPG4,NS,neuroblastoma,0,1	CSPG4	175	1	0			c.C1287A						PASS	.						34	34	34					15																	75982119		2197	4291	6488	SO:0001819	synonymous_variant	1464	exon3			CAGCTGGGTGAAA	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1287C>A	15.37:g.75982119G>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	88	15	0.170455	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			G|0.997;T|0.003	0.003	strong		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75982119	G	T	75982119	2	4	23	1	0	0	0	0	0	0	0	1	3960	1219	43	4		4	CSPG4	15	75982119	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12049	75982119	26549273	3548	20004										
CSPG4	1464	hgsc.bcm.edu	37	chr15	75982185	75982185	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctcaggcagctccatggcTggccaagcctcaggggccag					rs77341302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75982185T>C	ENST00000308508.5	-	3	1313	c.1221A>G	c.(1219-1221)ccA>ccG	p.P407P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	407	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCCATGGCTGGCCAAGCCT	0.612													t|||	429	0.0856629	0.289	0.0231	5008	,	,		22046	0.005		0.0169	False		,,,				2504	0.0092				p.P407P		Atlas-SNP	.											CSPG4,NS,carcinoma,-2,1	CSPG4	175	1	0			c.A1221G						scavenged	.						24	25	24					15																	75982185		2192	4276	6468	SO:0001819	synonymous_variant	1464	exon3			CATGGCTGGCCAA	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1221A>G	15.37:g.75982185T>C		Somatic	130	4	0.0307692		WXS	Illumina HiSeq	Phase_I	58	29	0.5	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			T|0.983;C|0.018	0.018	strong		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		C	75982185	T	C	75982185	2	2	23	1	0	0	0	0	0	0	0	1	3960	1567	55	3		3	CSPG4	15	75982185	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	66	75982185	26549207	3549	20005	406	2								
CSPG4	1464	hgsc.bcm.edu	37	chr15	75982186	75982186	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcaggcagctccatggctGgccaagcctcaggggccagg					rs199819221	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75982186G>A	ENST00000308508.5	-	3	1312	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	407	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCCATGGCTGGCCAAGCCTC	0.612													G|||	105	0.0209665	0.0439	0.0144	5008	,	,		21714	0.001		0.0288	False		,,,				2504	0.0072				p.P407L		Atlas-SNP	.											CSPG4,NS,carcinoma,-1,1	CSPG4	175	1	0			c.C1220T						scavenged	.						24	25	24					15																	75982186		2194	4279	6473	SO:0001583	missense	1464	exon3			ATGGCTGGCCAAG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1220C>T	15.37:g.75982186G>A	ENSP00000312506:p.Pro407Leu	Somatic	131	5	0.0381679		WXS	Illumina HiSeq	Phase_I	59	30	0.508475	NM_001897	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	0.054	-1.242041	0.01481	.	.	ENSG00000173546	ENST00000308508	T	0.37915	1.17	4.74	2.79	0.32731	.	0.523000	0.18155	N	0.149957	T	0.19446	0.0467	N	0.24115	0.695	0.09310	N	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.26224	-1.0109	10	0.11182	T	0.66	.	6.6966	0.23203	0.0854:0.0:0.6068:0.3079	.	407	Q6UVK1	CSPG4_HUMAN	L	407	ENSP00000312506:P407L	ENSP00000312506:P407L	P	-	2	0	CSPG4	73769241	0.120000	0.22244	0.232000	0.24009	0.360000	0.29518	0.292000	0.19011	0.557000	0.29117	0.555000	0.69702	CCA	.	.	weak		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75982186	G	A	75982186	3	1	23	1	0	0	0	0	1	0	0	0	3960	1348	47	2	5780	2	CSPG4	15	75982186	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	75982186	26549206	3550	20006	406	2								
CSPG4	1464	hgsc.bcm.edu	37	chr15	75982428	75982428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagaggcctctgcatccagCcccccgagaaggagactgcc	12	16	1	3	rs7182906	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:75982428C>T	ENST00000308508.5	-	3	1070	c.978G>A	c.(976-978)ggG>ggA	p.G326G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	326	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGCATCCAGCCCCCCGAGAA	0.632													C|||	1423	0.284145	0.2277	0.4006	5008	,	,		20377	0.1865		0.3817	False		,,,				2504	0.2781				p.G326G		Atlas-SNP	.											CSPG4,NS,carcinoma,0,1	CSPG4	175	1	0			c.G978A						scavenged	.						20	18	18					15																	75982428		2192	4291	6483	SO:0001819	synonymous_variant	1464	exon3			ATCCAGCCCCCCG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.978G>A	15.37:g.75982428C>T		Somatic	161	3	0.0186335		WXS	Illumina HiSeq	Phase_I	100	97	0.97	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			C|0.702;T|0.298	0.298	strong		0.632	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75982428	C	T	75982428	2	4	23	1	0	0	0	0	0	0	0	1	3960	726	26	2		2	CSPG4	15	75982428	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	242	75982428	26548964	3551	20007										
SGK269	79834	hgsc.bcm.edu	37	chr15	77407114	77407114	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggataagatgaggtggggCtgggctctgcaggcccaaag	18	7	1	2	rs1867780	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:77407114C>G	ENST00000560626.2	-	7	5100	c.4625G>C	c.(4624-4626)aGc>aCc	p.S1542T	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1542T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1542	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> T (in dbSNP:rs1867780). {ECO:0000269|PubMed:17344846}.		cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGAGGTGGGGCTGGGCTCTGC	0.582													C|||	989	0.197484	0.0696	0.2536	5008	,	,		18231	0.2153		0.2873	False		,,,				2504	0.2198				p.S1542T		Atlas-SNP	.											.	.	.	.	0			c.G4625C						PASS	.	C	THR/SER	416,3388		29,358,1515	54	55	55		4625	3.5	0.7	15	dbSNP_92	55	2356,5898		355,1646,2126	no	missense	PEAK1	NM_024776.3	58	384,2004,3641	GG,GC,CC		28.5437,10.9359,22.9889	benign	1542/1747	77407114	2772,9286	1902	4127	6029	SO:0001583	missense	0	exon8			GTGGGGCTGGGCT		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4625G>C	15.37:g.77407114C>G	ENSP00000452796:p.Ser1542Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	27	4	0.148148	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	480	0.21978021978021978	41	0.08333333333333333	90	0.24861878453038674	130	0.22727272727272727	219	0.28891820580474936	C	9.359	1.067504	0.20067	0.109359	0.285437	ENSG00000173517	ENST00000312493	T	0.68479	-0.33	5.47	3.49	0.39957	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.647154	0.14457	U	0.318453	T	0.00012	0.0000	N	0.08118	0	0.50632	P	1.1700000000003374E-4	B	0.10296	0.003	B	0.10450	0.005	T	0.18335	-1.0340	9	0.21540	T	0.41	-1.0031	7.1818	0.25776	0.0:0.6645:0.1217:0.2138	rs1867780;rs3743480;rs52820530;rs59760970;rs1867780	1542	Q9H792	PEAK1_HUMAN	T	1542	ENSP00000309230:S1542T	ENSP00000309230:S1542T	S	-	2	0	AC087465.1	75194169	1.000000	0.71417	0.689000	0.30133	0.860000	0.49131	1.665000	0.37449	0.596000	0.29794	0.561000	0.74099	AGC	C|0.750;G|0.250	0.250	strong		0.582	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			G	77407114	C	G	77407114	3	3	23	1	0	0	0	0	1	0	0	0	14211	797	28	4	619	4	SGK269	15	77407114	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1424686	77407114	25124278	3552	20008										
HMG20A	10363	hgsc.bcm.edu	37	chr15	77750802	77750802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccctttttgcagatgaagAcggttccaaggagagtaatg	12	8	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:77750802A>G	ENST00000381714.3	+	3	481	c.53A>G	c.(52-54)gAc>gGc	p.D18G	HMG20A_ENST00000336216.4_Missense_Mutation_p.D18G	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	18					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GCAGATGAAGACGGTTCCAAG	0.423																																					p.D18G		Atlas-SNP	.											.	HMG20A	48	.	0			c.A53G						PASS	.						94	94	94					15																	77750802		2196	4294	6490	SO:0001583	missense	10363	exon3			ATGAAGACGGTTC	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.53A>G	15.37:g.77750802A>G	ENSP00000371133:p.Asp18Gly	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	63	5	0.0793651	NM_018200	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820448	0.50633	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.70986	-0.53;-0.53	5.76	5.76	0.90799	.	0.067632	0.64402	D	0.000012	T	0.67011	0.2848	N	0.24115	0.695	0.44816	D	0.997829	B;P	0.46395	0.247;0.877	B;P	0.49829	0.053;0.623	T	0.71431	-0.4595	10	0.66056	D	0.02	-17.0189	14.3238	0.66505	1.0:0.0:0.0:0.0	.	18;18	Q9NP66;Q9NP66-2	HM20A_HUMAN;.	G	18	ENSP00000336856:D18G;ENSP00000371133:D18G	ENSP00000336856:D18G	D	+	2	0	HMG20A	75537857	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.672000	0.68102	2.200000	0.70718	0.460000	0.39030	GAC	.	.	none		0.423	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		G	77750802	A	G	77750802	3	3	23	1	0	0	0	0	1	0	0	0	7221	275	10	2	55	2	HMG20A	15	77750802	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	343688	77750802	24780590	3553	20009										
TBC1D2B	23102	hgsc.bcm.edu	37	chr15	78369815	78369815	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtagcagcggcgcgcgtcGaacacgaaccagcggctgcg	16	13	0	0	rs9047	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:78369815G>A	ENST00000300584.3	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SH2D7_ENST00000409568.2_5'Flank|TBC1D2B_ENST00000409931.3_Silent_p.F60F	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	60	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGCGCGCGTCGAACACGAACC	0.687													G|||	899	0.179513	0.0424	0.1542	5008	,	,		8310	0.3363		0.1869	False		,,,				2504	0.2137				p.F60F		Atlas-SNP	.											.	TBC1D2B	104	.	0			c.C180T						PASS	.						4	9	7					15																	78369815		618	1485	2103	SO:0001819	synonymous_variant	23102	exon1			CGCGTCGAACACG	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.180C>T	15.37:g.78369815G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	31	19	0.612903	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	CCDS45314.1																																																																																			G|0.810;A|0.190	0.190	strong		0.687	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		A	78369815	G	A	78369815	2	1	23	1	0	0	0	0	0	0	0	1	15616	1049	37	1		1	TBC1D2B	15	78369815	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	619013	78369815	24161577	3554	20010										
CIB2	10518	hgsc.bcm.edu	37	chr15	78401620	78401620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttgagctctcggggagcCgactcgcagagcacggaaaa	14	12	1	2	rs77370542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:78401620C>T	ENST00000258930.3	-	4	631	c.303G>A	c.(301-303)tcG>tcA	p.S101S	CIB2_ENST00000557846.1_Silent_p.S52S|CIB2_ENST00000539011.1_Silent_p.S58S|CIB2_ENST00000560618.1_Silent_p.S58S	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	101	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTCGGGGAGCCGACTCGCAGA	0.552													C|||	59	0.0117812	0.0015	0.0187	5008	,	,		17572	0.0		0.0417	False		,,,				2504	0.002				p.S101S		Atlas-SNP	.											CIB2,NS,carcinoma,-1,1	CIB2	24	1	0			c.G303A						scavenged	.	C		23,4369	29.9+/-59.1	0,23,2173	99	86	90		303	-6.4	0.2	15	dbSNP_132	90	308,8278	110.8+/-171.2	6,296,3991	no	coding-synonymous	CIB2	NM_006383.2		6,319,6164	TT,TC,CC		3.5872,0.5237,2.5505		101/188	78401620	331,12647	2196	4293	6489	SO:0001819	synonymous_variant	10518	exon4			GGGAGCCGACTCG	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.303G>A	15.37:g.78401620C>T		Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	86	16	0.186047	NM_006383	B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	CCDS10296.1																																																																																			C|0.978;T|0.022	0.022	strong		0.552	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		T	78401620	C	T	78401620	2	4	23	1	0	0	0	0	0	0	0	1	3421	639	23	1		1	CIB2	15	78401620	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	31805	78401620	24129772	3555	20011										
AGPHD1	123688	hgsc.bcm.edu	37	chr15	78825562	78825562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctactttcaggtatcaatcaCggagatcttaatgaccataa	6	9	4	2	rs12906951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:78825562C>T	ENST00000569878.1	+	4	672	c.672C>T	c.(670-672)caC>caT	p.H224H	HYKK_ENST00000388988.4_Silent_p.H224H|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000563233.1_Intron			A2RU49	HYKK_HUMAN	hydroxylysine kinase	224						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)	p.H224H(2)									GTATCAATCACGGAGATCTTA	0.353													T|||	1183	0.236222	0.0998	0.2176	5008	,	,		19099	0.1528		0.3708	False		,,,				2504	0.3814				p.H224H		Atlas-SNP	.											AGPHD1,NS,carcinoma,0,1	AGPHD1	22	1	2	Substitution - coding silent(2)	prostate(2)	c.C672T						scavenged	.	T	,	620,3032		59,502,1265	55	48	50		672,	-3.9	0.8	15	dbSNP_121	50	3377,4779		717,1943,1418	no	coding-synonymous,intron	AGPHD1	NM_001013619.2,NM_001083612.1	,	776,2445,2683	TT,TC,CC		41.4051,16.977,33.8499	,	224/374,	78825562	3997,7811	1826	4078	5904	SO:0001819	synonymous_variant	123688	exon5			CAATCACGGAGAT	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.672C>T	15.37:g.78825562C>T		Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	63	42	0.666667	NM_001013619	B7ZMA5|F8W6X5|Q6ZTN0	Silent	SNP	ENST00000569878.1	37	CCDS42063.1																																																																																			C|0.733;T|0.267	0.267	strong		0.353	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		T	78825562	C	T	78825562	2	4	23	1	0	0	0	0	0	0	0	1	393	535	19	1		1	AGPHD1	15	78825562	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	423942	78825562	23705830	3556	20012										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcccacaccacttgcctCgctccagtttcccgcttgcc	6	21	0	0	rs200769684		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1422K(3)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACTTGCCTCGCTCCAGTTT	0.657																																					p.E1422K		Atlas-SNP	.											ADAMTS7,face,carcinoma,0,3	ADAMTS7	142	3	3	Substitution - Missense(3)	skin(2)|NS(1)	c.G4264A						scavenged	.						31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173	exon19			TTGCCTCGCTCCA	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys	Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	111	19	0.171171	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG	C|0.999;T|0.001	0.001	weak		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	23	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	232427	79057989	23473403	3557	20013										
RASGRF1	5923	hgsc.bcm.edu	37	chr15	79298523	79298523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaggaggagggcacctcaGccacctggcaggaatggcac	17	11	1	0	rs894780	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:79298523G>A	ENST00000419573.3	-	15	2393	c.2119C>T	c.(2119-2121)Ctg>Ttg	p.L707L	RASGRF1_ENST00000558480.2_Intron|RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	707	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGCACCTCAGCCACCTGGCA	0.607													G|||	332	0.0662939	0.0061	0.0605	5008	,	,		21301	0.0972		0.1163	False		,,,				2504	0.0685				p.L707L		Atlas-SNP	.											.	RASGRF1	168	.	0			c.C2119T						PASS	.	G	,	96,4296	75.2+/-113.4	2,92,2102	110	96	100		,2119	1.3	0.1	15	dbSNP_86	100	885,7701	198.6+/-242.9	71,743,3479	no	intron,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4	,	73,835,5581	AA,AG,GG		10.3075,2.1858,7.5589	,	,707/1274	79298523	981,11997	2196	4293	6489	SO:0001819	synonymous_variant	5923	exon15			ACCTCAGCCACCT	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2119C>T	15.37:g.79298523G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	68	52	0.764706	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																			G|0.921;T|0.000	.	strong		0.607	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79298523	G	A	79298523	2	1	23	1	0	0	0	0	0	0	0	1	13072	962	34	2		2	RASGRF1	15	79298523	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	240534	79298523	23232869	3558	20014										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79748603	79748603	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatctctctgtgcccggttCgacctgtcgcagcttgccaa	9	14	2	0	rs7183867	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:79748603C>T	ENST00000305428.3	+	2	189	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	38						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTGCCCGGTTCGACCTGTCGC	0.473													C|||	941	0.187899	0.5287	0.0634	5008	,	,		16769	0.0823		0.0636	False		,,,				2504	0.0521				p.F38F		Atlas-SNP	.											.	KIAA1024	146	.	0			c.C114T						PASS	.	C		1963,2429	555.4+/-379.2	442,1079,675	116	110	112		114	-8.4	0	15	dbSNP_116	112	537,8049	148.8+/-204.0	15,507,3771	no	coding-synonymous	KIAA1024	NM_015206.2		457,1586,4446	TT,TC,CC		6.2544,44.6949,19.2634		38/917	79748603	2500,10478	2196	4293	6489	SO:0001819	synonymous_variant	23251	exon2			CCGGTTCGACCTG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.114C>T	15.37:g.79748603C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	97	22	0.226804	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																			C|0.813;T|0.187	0.187	strong		0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79748603	C	T	79748603	2	4	23	1	0	0	0	0	0	0	0	1	8205	883	31	1		1	KIAA1024	15	79748603	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	450080	79748603	22782789	3559	20015										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79749447	79749447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatccagtgtattccccgGttcctgacaaaaggcgagca	10	11	0	2	rs11634652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:79749447G>T	ENST00000305428.3	+	2	1033	c.958G>T	c.(958-960)Gtt>Ttt	p.V320F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	320			V -> F (in dbSNP:rs11634652).			integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTATTCCCCGGTTCCTGACAA	0.522													G|||	670	0.133786	0.3321	0.049	5008	,	,		18437	0.0823		0.0636	False		,,,				2504	0.0511				p.V320F		Atlas-SNP	.											.	KIAA1024	146	.	0			c.G958T						PASS	.	G	PHE/VAL	1225,3167	425.3+/-340.8	180,865,1151	127	135	132		958	-1.6	0	15	dbSNP_120	132	523,8063	146.5+/-202.0	14,495,3784	yes	missense	KIAA1024	NM_015206.2	50	194,1360,4935	TT,TG,GG		6.0913,27.8916,13.4689	benign	320/917	79749447	1748,11230	2196	4293	6489	SO:0001583	missense	23251	exon2			TCCCCGGTTCCTG	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.958G>T	15.37:g.79749447G>T	ENSP00000307461:p.Val320Phe	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	285	0.1304945054945055	167	0.3394308943089431	23	0.06353591160220995	46	0.08041958041958042	49	0.06464379947229551	G	10.64	1.407212	0.25378	0.278916	0.060913	ENSG00000169330	ENST00000305428	T	0.32515	1.45	5.01	-1.58	0.08479	.	0.611918	0.15992	N	0.234776	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.29085	0.232	B	0.24701	0.055	T	0.46133	-0.9213	8	.	.	.	.	6.2025	0.20583	0.4768:0.1324:0.3908:0.0	rs11634652;rs52819290;rs56800743;rs11634652	320	Q9UPX6	K1024_HUMAN	F	320	ENSP00000307461:V320F	.	V	+	1	0	KIAA1024	77536502	0.000000	0.05858	0.000000	0.03702	0.935000	0.57460	0.248000	0.18198	-0.097000	0.12307	0.591000	0.81541	GTT	G|0.866;T|0.134	0.134	strong		0.522	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79749447	G	T	79749447	3	4	23	1	0	0	0	0	1	0	0	0	8205	1261	44	4	960	4	KIAA1024	15	79749447	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	844	79749447	22781945	3560	20016										
ST20	400410	hgsc.bcm.edu	37	chr15	80191280	80191280	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaagttgtttatttaaaagTagaagtatgtgttggcaatc	9	3	0	1	rs184575290	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:80191280T>A	ENST00000478497.1	-	3	912	c.233A>T	c.(232-234)tAc>tTc	p.Y78F	ST20_ENST00000485386.1_Missense_Mutation_p.Y78F|MTHFS_ENST00000258874.3_5'Flank|ST20_ENST00000562759.1_Missense_Mutation_p.Y78F|ST20-MTHFS_ENST00000479961.1_Intron|MTHFS_ENST00000559722.1_5'Flank|ST20-MTHFS_ENST00000494999.1_Intron	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	78					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TATTTAAAAGTAGAAGTATGT	0.333													T|||	3	0.000599042	0.0	0.0	5008	,	,		18184	0.0		0.003	False		,,,				2504	0.0				p.Y78F		Atlas-SNP	.											ST20,NS,carcinoma,+1,1	ST20	9	1	0			c.A233T						PASS	.	T	PHE/TYR,PHE/TYR,PHE/TYR,	3,4391	6.2+/-15.9	0,3,2194	74	78	77		233,233,233,	-1.1	0	15		77	29,8561	17.9+/-57.8	0,29,4266	yes	missense,missense,missense,intron	ST20,ST20-MTHFS	NM_001100879.1,NM_001100880.2,NM_001199757.1,NM_001199760.1	22,22,22,	0,32,6460	AA,AT,TT		0.3376,0.0683,0.2465	possibly-damaging,possibly-damaging,possibly-damaging,	78/80,78/80,78/80,	80191280	32,12952	2197	4295	6492	SO:0001583	missense	400410	exon3			TAAAAGTAGAAGT	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.233A>T	15.37:g.80191280T>A	ENSP00000453502:p.Tyr78Phe	Somatic	285	1	0.00350877		WXS	Illumina HiSeq	Phase_I	129	87	0.674419	NM_001199757		Missense_Mutation	SNP	ENST00000478497.1	37	CCDS42067.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	12.63	1.994958	0.35226	6.83E-4	0.003376	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	1.78	-1.14	0.09741	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	P	0.46020	0.871	B	0.31812	0.136	T	0.13150	-1.0520	7	0.87932	D	0	.	5.9491	0.19235	0.0:0.0:0.5632:0.4368	.	78	Q9HBF5	ST20_HUMAN	F	78	.	ENSP00000319125:Y78F	Y	-	2	0	ST20	77978335	0.002000	0.14202	0.000000	0.03702	0.446000	0.32137	-0.513000	0.06305	-0.277000	0.09193	0.172000	0.16884	TAC	T|0.998;A|0.002	0.002	strong		0.333	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			A	80191280	T	A	80191280	3	1	23	1	0	0	0	0	1	0	0	0	15212	1638	57	5	10	5	ST20	15	80191280	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	441833	80191280	22340112	3561	20017										
EFTUD1	79631	hgsc.bcm.edu	37	chr15	82444437	82444437	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatcatgtgagtattttcAccctcattcaaagaggatgt	8	7	4	3	rs905450	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:82444437A>G	ENST00000268206.7	-	18	2526	c.2358T>C	c.(2356-2358)ggT>ggC	p.G786G	EFTUD1_ENST00000359445.3_Silent_p.G735G	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	786					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAGTATTTTCACCCTCATTCA	0.423													G|||	3934	0.785543	0.8714	0.853	5008	,	,		19640	0.8353		0.7624	False		,,,				2504	0.5941				p.G786G		Atlas-SNP	.											.	EFTUD1	74	.	0			c.T2358C						PASS	.	G	,	3165,545		1354,457,44	98	90	93		2205,2358	-0.3	0.1	15	dbSNP_86	93	6458,1752		2550,1358,197	no	coding-synonymous,coding-synonymous	EFTUD1	NM_001040610.2,NM_024580.5	,	3904,1815,241	GG,GA,AA		21.3398,14.69,19.2701	,	735/1070,786/1121	82444437	9623,2297	1855	4105	5960	SO:0001819	synonymous_variant	79631	exon18			ATTTTCACCCTCA	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2358T>C	15.37:g.82444437A>G		Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	173	173	1	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																			A|0.199;G|0.801	0.801	strong		0.423	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		G	82444437	A	G	82444437	2	3	23	1	0	0	0	0	0	0	0	1	4960	146	6	2		2	EFTUD1	15	82444437	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2253157	82444437	20086955	3562	20018										
EFTUD1	79631	hgsc.bcm.edu	37	chr15	82444663	82444663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgactgcaactttttgctgtTtgcctatttcttcattgacc	6	10	2	2	rs2292071	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:82444663T>C	ENST00000268206.7	-	18	2300	c.2132A>G	c.(2131-2133)aAa>aGa	p.K711R	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K660R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	711			K -> R (in dbSNP:rs2292071).		GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTTGCTGTTTGCCTATTTC	0.373													T|||	868	0.173323	0.3661	0.0663	5008	,	,		19602	0.2123		0.0676	False		,,,				2504	0.0573				p.K711R		Atlas-SNP	.											.	EFTUD1	74	.	0			c.A2132G						PASS	.	T	ARG/LYS,ARG/LYS	1103,2613		166,771,921	188	189	189		1979,2132	-0.7	0.8	15	dbSNP_100	189	451,7749		13,425,3662	yes	missense,missense	EFTUD1	NM_001040610.2,NM_024580.5	26,26	179,1196,4583	CC,CT,TT		5.5,29.6825,13.0413	benign,benign	660/1070,711/1121	82444663	1554,10362	1858	4100	5958	SO:0001583	missense	79631	exon18			TGCTGTTTGCCTA	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2132A>G	15.37:g.82444663T>C	ENSP00000268206:p.Lys711Arg	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	349	0.15979853479853479	163	0.3313008130081301	21	0.058011049723756904	114	0.1993006993006993	51	0.06728232189973615	T	13.63	2.295052	0.40594	0.296825	0.055	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26660	1.72;1.72	5.94	-0.711	0.11230	Ribosomal protein S5 domain 2-type fold (1);	0.404113	0.19501	N	0.112734	T	0.00012	0.0000	N	0.25485	0.75	0.21822	P	0.999520864	B;B	0.10296	0.002;0.003	B;B	0.15052	0.012;0.004	T	0.47623	-0.9103	9	0.26408	T	0.33	-1.1557	10.1311	0.42680	0.0:0.3857:0.0:0.6143	rs2292071;rs52810129;rs60840055;rs2292071	660;711	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	R	711;660	ENSP00000268206:K711R;ENSP00000352418:K660R	ENSP00000268206:K711R	K	-	2	0	EFTUD1	80231718	1.000000	0.71417	0.835000	0.33067	0.974000	0.67602	1.488000	0.35551	-0.371000	0.08004	-0.371000	0.07208	AAA	T|0.844;C|0.156	0.156	strong		0.373	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		C	82444663	T	C	82444663	3	2	23	1	0	0	0	0	1	0	0	0	4960	1841	64	2	1242	2	EFTUD1	15	82444663	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	226	82444663	20086729	3563	20019										
EFTUD1	79631	hgsc.bcm.edu	37	chr15	82456227	82456227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaacagcaactctcacaaTaggagtggcttcgaagttga	9	9	2	1	rs1128431	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:82456227T>C	ENST00000268206.7	-	16	2017	c.1849A>G	c.(1849-1851)Att>Gtt	p.I617V	EFTUD1_ENST00000359445.3_Missense_Mutation_p.I566V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	617			I -> V (in dbSNP:rs1128431).		GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACTCTCACAATAGGAGTGGCT	0.378													T|||	875	0.17472	0.3623	0.0692	5008	,	,		19860	0.2143		0.0736	False		,,,				2504	0.0593				p.I617V		Atlas-SNP	.											.	EFTUD1	74	.	0			c.A1849G						PASS	.	T	VAL/ILE,VAL/ILE	1100,2694		164,772,961	91	87	88		1696,1849	5.2	0.8	15	dbSNP_86	88	520,7724		17,486,3619	yes	missense,missense	EFTUD1	NM_001040610.2,NM_024580.5	29,29	181,1258,4580	CC,CT,TT		6.3076,28.9931,13.4574	benign,benign	566/1070,617/1121	82456227	1620,10418	1897	4122	6019	SO:0001583	missense	79631	exon16			TCACAATAGGAGT	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1849A>G	15.37:g.82456227T>C	ENSP00000268206:p.Ile617Val	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	90	16	0.177778	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	353	0.16163003663003664	159	0.3231707317073171	23	0.06353591160220995	114	0.1993006993006993	57	0.07519788918205805	T	24.5	4.539451	0.85917	0.289931	0.063076	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.64803	-0.12;-0.12	5.2	5.2	0.72013	Elongation factor G/III/V (1);	0.328424	0.23362	N	0.049019	T	0.00012	0.0000	N	0.05158	-0.105	0.09310	P	0.99999999185105	D;P	0.71674	0.998;0.791	D;P	0.67231	0.95;0.464	T	0.36383	-0.9750	9	0.72032	D	0.01	-1.5349	15.0754	0.72074	0.0:0.0:0.0:1.0	rs1128431;rs2291990;rs3088388;rs3185400;rs11548680;rs17841155;rs52836083;rs59235214;rs1128431	566;617	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	V	617;566	ENSP00000268206:I617V;ENSP00000352418:I566V	ENSP00000268206:I617V	I	-	1	0	EFTUD1	80243282	1.000000	0.71417	0.782000	0.31804	0.996000	0.88848	7.423000	0.80229	1.972000	0.57404	0.533000	0.62120	ATT	T|0.838;C|0.162	0.162	strong		0.378	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		C	82456227	T	C	82456227	3	2	23	1	0	0	0	0	1	0	0	0	4960	1406	49	2	1533	2	EFTUD1	15	82456227	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11564	82456227	20075165	3564	20020										
AP3B2	8120	hgsc.bcm.edu	37	chr15	83378366	83378366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcttgtagtcggaggagaaGatgccgccgctcgcggggtc	17	11	0	2	rs200226421	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:83378366G>A	ENST00000261722.3	-	1	300	c.93C>T	c.(91-93)atC>atT	p.I31I	AP3B2_ENST00000535359.1_Silent_p.I31I|AP3B2_ENST00000561455.1_5'Flank|AP3B2_ENST00000542200.1_Silent_p.I31I|AP3B2_ENST00000535348.1_Silent_p.I31I|AC105339.1_ENST00000440479.1_lincRNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	31					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGAGGAGAAGATGCCGCCGC	0.761													G|||	25	0.00499201	0.0008	0.0029	5008	,	,		8047	0.0		0.0199	False		,,,				2504	0.002				p.I31I		Atlas-SNP	.											.	AP3B2	103	.	0			c.C93T						PASS	.	G		0,2962		0,0,1481	2	3	3		93	1.7	1	15		3	42,6932		0,42,3445	no	coding-synonymous	AP3B2	NM_004644.3		0,42,4926	AA,AG,GG		0.6022,0.0,0.4227		31/1083	83378366	42,9894	1481	3487	4968	SO:0001819	synonymous_variant	8120	exon1			GGAGAAGATGCCG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.93C>T	15.37:g.83378366G>A		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_004644	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																			.	.	weak		0.761	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			A	83378366	G	A	83378366	2	1	23	1	0	0	0	0	0	0	0	1	745	932	33	2		2	AP3B2	15	83378366	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	922139	83378366	19153026	3565	20021										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84611367	84611367	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggcatgtgggctcttggGggccctgctcagctacctgt	16	11	2	0	rs34047645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:84611367G>C	ENST00000286744.5	+	18	2361	c.2137G>C	c.(2137-2139)Ggg>Cgg	p.G713R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G713R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	713	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.		G -> R (in dbSNP:rs34047645).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCTCTTGGGGGCCCTGCTC	0.542													G|||	271	0.0541134	0.0076	0.0879	5008	,	,		18592	0.001		0.168	False		,,,				2504	0.0307				p.G713R		Atlas-SNP	.											ADAMTSL3,NS,carcinoma,-2,2	ADAMTSL3	290	2	0			c.G2137C						PASS	.	G	ARG/GLY	161,4245	107.3+/-145.7	3,155,2045	83	85	84		2137	3.6	1	15	dbSNP_126	84	1369,7231	264.3+/-285.5	107,1155,3038	yes	missense	ADAMTSL3	NM_207517.2	125	110,1310,5083	CC,CG,GG		15.9186,3.6541,11.7638	benign	713/1692	84611367	1530,11476	2203	4300	6503	SO:0001583	missense	57188	exon18			TCTTGGGGGCCCT	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2137G>C	15.37:g.84611367G>C	ENSP00000286744:p.Gly713Arg	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	33	31	0.939394	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	170	0.07783882783882784	4	0.008130081300813009	34	0.09392265193370165	0	0.0	132	0.1741424802110818	G	10.65	1.410885	0.25465	0.036541	0.159186	ENSG00000156218	ENST00000286744	T	0.53857	0.6	5.7	3.61	0.41365	.	2.009030	0.02079	N	0.052181	T	0.00109	0.0003	N	0.17564	0.495	0.23956	P	0.99635721	B;B	0.18863	0.002;0.031	B;B	0.23419	0.011;0.046	T	0.05886	-1.0858	9	0.33141	T	0.24	.	4.2229	0.10567	0.4509:0.0:0.5491:0.0	rs34047645	713;713	P82987-2;P82987	.;ATL3_HUMAN	R	713	ENSP00000286744:G713R	ENSP00000286744:G713R	G	+	1	0	ADAMTSL3	82402371	1.000000	0.71417	0.993000	0.49108	0.526000	0.34562	3.442000	0.52900	1.409000	0.46915	0.655000	0.94253	GGG	G|0.892;C|0.108	0.108	strong		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		C	84611367	G	C	84611367	3	2	23	1	0	0	0	0	1	0	0	0	276	1232	43	4	2203	4	ADAMTSL3	15	84611367	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1233001	84611367	17920025	3566	20022										
ADAMTSL3	57188	hgsc.bcm.edu	37	chr15	84651057	84651057	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatgaagacaaaacttggtGagcagggtccgcagatcctc	12	9	0	5	rs140206840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:84651057G>A	ENST00000286744.5	+	21	2901	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	ADAMTSL3_ENST00000567716.1_3'UTR|ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E893K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	893						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAAACTTGGTGAGCAGGGTCC	0.393													G|||	44	0.00878594	0.0008	0.0216	5008	,	,		18861	0.0		0.0249	False		,,,				2504	0.0031				p.E893K		Atlas-SNP	.											.	ADAMTSL3	290	.	0			c.G2677A						PASS	.	G	LYS/GLU	27,4379	31.7+/-61.6	0,27,2176	89	83	85		2677	3.2	0.2	15	dbSNP_134	85	214,8386	90.6+/-152.8	2,210,4088	yes	missense	ADAMTSL3	NM_207517.2	56	2,237,6264	AA,AG,GG		2.4884,0.6128,1.853	benign	893/1692	84651057	241,12765	2203	4300	6503	SO:0001583	missense	57188	exon21			CTTGGTGAGCAGG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2677G>A	15.37:g.84651057G>A	ENSP00000286744:p.Glu893Lys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	63	53	0.84127	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	29	0.013278388278388278	0	0.0	11	0.03038674033149171	0	0.0	18	0.023746701846965697	G	9.622	1.134225	0.21123	0.006128	0.024884	ENSG00000156218	ENST00000286744	T	0.62941	-0.01	5.05	3.17	0.36434	.	0.159829	0.29551	N	0.011831	T	0.14874	0.0359	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.002;0.255	B;B	0.27262	0.012;0.078	T	0.20042	-1.0287	10	0.02654	T	1	.	4.5348	0.12022	0.2957:0.0:0.5527:0.1516	.	893;893	P82987-2;P82987	.;ATL3_HUMAN	K	893	ENSP00000286744:E893K	ENSP00000286744:E893K	E	+	1	0	ADAMTSL3	82442061	0.235000	0.23794	0.248000	0.24265	0.960000	0.62799	1.422000	0.34826	1.121000	0.41925	0.563000	0.77884	GAG	G|0.980;A|0.020	0.020	strong		0.393	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84651057	G	A	84651057	3	1	23	1	0	0	0	0	1	0	0	0	276	1291	45	2	2755	2	ADAMTSL3	15	84651057	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39690	84651057	17880335	3567	20023										
PDE8A	5151	hgsc.bcm.edu	37	chr15	85610349	85610349	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaaggaggctcaggctgtCcttgcctgtttcctggacaa	11	12	1	0	rs35666574	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:85610349C>T	ENST00000310298.4	+	4	600	c.348C>T	c.(346-348)gtC>gtT	p.V116V	PDE8A_ENST00000394553.1_Silent_p.V116V|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.V44V|PDE8A_ENST00000339708.5_Silent_p.V116V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	116					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CTCAGGCTGTCCTTGCCTGTT	0.448													C|||	64	0.0127796	0.0098	0.0058	5008	,	,		19685	0.0		0.0408	False		,,,				2504	0.0061				p.V116V		Atlas-SNP	.											.	PDE8A	50	.	0			c.C348T						PASS	.	C	,	60,4346	58.1+/-94.6	0,60,2143	164	138	147		348,348	0.2	1	15	dbSNP_126	147	280,8318	105.6+/-166.5	7,266,4026	no	coding-synonymous,coding-synonymous	PDE8A	NM_002605.2,NM_173454.1	,	7,326,6169	TT,TC,CC		3.2566,1.3618,2.6146	,	116/830,116/784	85610349	340,12664	2203	4299	6502	SO:0001819	synonymous_variant	5151	exon3			GGCTGTCCTTGCC	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.348C>T	15.37:g.85610349C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	73	62	0.849315	NM_173454	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	CCDS10336.1																																																																																			C|0.976;T|0.024	0.024	strong		0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		T	85610349	C	T	85610349	2	4	23	1	0	0	0	0	0	0	0	1	11653	842	30	2		2	PDE8A	15	85610349	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	959292	85610349	16921043	3568	20024										
AKAP13	11214	hgsc.bcm.edu	37	chr15	86287867	86287867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacatttccagatggtcccGcgtcagaagtatcagcagag	10	11	3	3	rs2614668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:86287867G>A	ENST00000394518.2	+	37	8496	c.8401G>A	c.(8401-8403)Gcg>Acg	p.A2801T	AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.A2805T|AKAP13_ENST00000394510.2_Missense_Mutation_p.A1046T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2801	Interaction with ESR1.		A -> T (in dbSNP:rs2614668).		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						AGATGGTCCCGCGTCAGAAGT	0.493													G|||	944	0.188498	0.2005	0.0677	5008	,	,		19457	0.3085		0.0746	False		,,,				2504	0.2515				p.A2805T	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											.	AKAP13	394	.	0			c.G8413A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	960,3444	364.1+/-316.8	103,754,1345	140	147	145		8413,8401,3136	1.3	0	15	dbSNP_100	145	744,7854	180.2+/-229.2	32,680,3587	yes	missense,missense,missense	AKAP13	NM_006738.4,NM_007200.3,NM_144767.3	58,58,58	135,1434,4932	AA,AG,GG		8.6532,21.7984,13.1057	benign,benign,benign	2805/2818,2801/2814,1046/1059	86287867	1704,11298	2202	4299	6501	SO:0001583	missense	11214	exon37			GGTCCCGCGTCAG	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.8401G>A	15.37:g.86287867G>A	ENSP00000378026:p.Ala2801Thr	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	67	50	0.746269	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	381	0.17445054945054944	104	0.21138211382113822	31	0.0856353591160221	196	0.34265734265734266	50	0.06596306068601583	G	8.788	0.929971	0.18131	0.217984	0.086532	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.44083	0.93;0.93;0.93	5.64	1.26	0.21427	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B;B	0.13145	0.004;0.007	B;B	0.09377	0.002;0.004	T	0.37641	-0.9697	8	0.33940	T	0.23	.	6.2305	0.20732	0.1819:0.0:0.6152:0.2029	rs2614668;rs52833278;rs58410149;rs2614668	2801;2805	Q12802;Q12802-2	AKP13_HUMAN;.	T	2805;2801;2804;2780;1046	ENSP00000354718:A2805T;ENSP00000378026:A2801T;ENSP00000378018:A1046T	ENSP00000354718:A2805T	A	+	1	0	AKAP13	84088871	0.001000	0.12720	0.016000	0.15963	0.126000	0.20510	0.331000	0.19733	0.325000	0.23359	-1.149000	0.01842	GCG	G|0.842;A|0.158	0.158	strong		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86287867	G	A	86287867	3	1	23	1	0	0	0	0	1	0	0	0	449	1087	38	1	8613	1	AKAP13	15	86287867	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	677518	86287867	16243525	3569	20025										
AGBL1	123624	hgsc.bcm.edu	37	chr15	86790936	86790936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcagtgaaccgaggctaCgtcaccagcctgctcgggct	13	13	1	2	rs371409529		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:86790936C>T	ENST00000441037.2	+	6	518	c.423C>T	c.(421-423)taC>taT	p.Y141Y	AGBL1_ENST00000421325.2_Silent_p.Y141Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	141					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACCGAGGCTACGTCACCAGCC	0.597																																					p.Y141Y		Atlas-SNP	.											AGBL1,bladder,carcinoma,0,1	AGBL1	151	1	0			c.C423T						PASS	.						25	27	26					15																	86790936		2139	4253	6392	SO:0001819	synonymous_variant	123624	exon6			AGGCTACGTCACC	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.423C>T	15.37:g.86790936C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	105	80	0.761905	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			.	.	alt		0.597	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86790936	C	T	86790936	2	4	23	1	0	0	0	0	0	0	0	1	375	547	19	1		1	AGBL1	15	86790936	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	503069	86790936	15740456	3570	20026										
NTRK3	4916	hgsc.bcm.edu	37	chr15	88576185	88576185	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaccacagtgtcgggcccGgcatccagtgacgagggcgt	15	12	0	2	rs2229910	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:88576185G>C	ENST00000360948.2	-	13	1649	c.1488C>G	c.(1486-1488)gcC>gcG	p.A496A	NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000355254.2_Silent_p.A496A|NTRK3_ENST00000357724.2_Silent_p.A488A|NTRK3_ENST00000540489.2_Silent_p.A496A|NTRK3_ENST00000317501.3_Silent_p.A496A|NTRK3_ENST00000394480.2_Silent_p.A496A|NTRK3_ENST00000542733.2_Silent_p.A398A|NTRK3_ENST00000557856.1_Silent_p.A488A|NTRK3_ENST00000558676.1_Silent_p.A488A	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	496					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A496A(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCGGGCCCGGCATCCAGTG	0.602			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1753	0.35004	0.4395	0.3746	5008	,	,		11027	0.2083		0.3171	False		,,,				2504	0.3916				p.A496A		Atlas-SNP	.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	NTRK3_ENST00000360948,NS,carcinoma,-1,4	NTRK3	587	4	1	Substitution - coding silent(1)	stomach(1)	c.C1488G						scavenged	.	G	,,	1782,2620	525.1+/-371.5	378,1026,797	96	63	74		1488,1488,1488	-5.5	0	15	dbSNP_129	74	3053,5545	464.4+/-366.2	548,1957,1794	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	,,	926,2983,2591	CC,CG,GG		35.5083,40.4816,37.1923	,,	496/613,496/840,496/826	88576185	4835,8165	2201	4299	6500	SO:0001819	synonymous_variant	4916	exon14			GGGCCCGGCATCC	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1488C>G	15.37:g.88576185G>C		Somatic	149	2	0.0134228		WXS	Illumina HiSeq	Phase_I	73	14	0.191781	NM_001012338	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																			G|0.647;C|0.353	0.353	strong		0.602	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				C	88576185	G	C	88576185	2	2	23	1	0	0	0	0	0	0	0	1	10708	1103	39	4		4	NTRK3	15	88576185	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1785249	88576185	13955207	3571	20027										
ACAN	176	hgsc.bcm.edu	37	chr15	89398553	89398553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagtgggctcaggcctgCctgtggaaagtggactaccc	13	13	1	0	rs35430524	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:89398553C>A	ENST00000561243.1	+	11	2737	c.2737C>A	c.(2737-2739)Cct>Act	p.P913T	ACAN_ENST00000439576.2_Missense_Mutation_p.P913T|ACAN_ENST00000559004.1_Missense_Mutation_p.P913T|ACAN_ENST00000352105.7_Missense_Mutation_p.P913T			P16112	PGCA_HUMAN	aggrecan	912	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.P913T(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGGCCTGCCTGTGGAAAG	0.587													C|||	487	0.0972444	0.0129	0.147	5008	,	,		19326	0.1944		0.0795	False		,,,				2504	0.0941				p.P913T		Atlas-SNP	.											ACAN,NS,carcinoma,0,1	ACAN	220	1	1	Substitution - Missense(1)	stomach(1)	c.C2737A						PASS	.	C	THR/PRO,THR/PRO	111,3835		3,105,1865	42	47	45		2737,2737	5.3	1	15	dbSNP_126	45	783,7521		26,731,3395	yes	missense,missense	ACAN	NM_013227.3,NM_001135.3	38,38	29,836,5260	AA,AC,CC		9.4292,2.813,7.298	benign,benign	913/2531,913/2432	89398553	894,11356	1973	4152	6125	SO:0001583	missense	176	exon12			GGCCTGCCTGTGG	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2737C>A	15.37:g.89398553C>A	ENSP00000453342:p.Pro913Thr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	79	54	0.683544	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	224	0.10256410256410256	7	0.014227642276422764	39	0.10773480662983426	115	0.20104895104895104	63	0.08311345646437995	C	14.56	2.570930	0.45798	0.02813	0.094292	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.05447	3.75;3.44	5.33	5.33	0.75918	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.34597	P	0.283867	B;B	0.24963	0.115;0.115	B;B	0.27796	0.083;0.047	T	0.44757	-0.9307	7	0.39692	T	0.17	-10.1741	11.6358	0.51202	0.0:0.9154:0.0:0.0846	rs35430524	913;913	E7ENV9;E7EX88	.;.	T	913	ENSP00000387356:P913T;ENSP00000341615:P913T	ENSP00000268134:P913T	P	+	1	0	ACAN	87199557	0.973000	0.33851	0.999000	0.59377	0.963000	0.63663	2.252000	0.43196	2.476000	0.83614	0.655000	0.94253	CCT	C|0.901;A|0.099	0.099	strong		0.587	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398553	C	A	89398553	3	1	23	1	0	0	0	0	1	0	0	0	117	739	26	4	2779	4	ACAN	15	89398553	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	822368	89398553	13132839	3572	20028										
HAPLN3	145864	hgsc.bcm.edu	37	chr15	89424765	89424765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggagcggtgcctcagccCgatggccaccagcacgtcct	12	15	1	0	rs140982817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:89424765C>T	ENST00000359595.3	-	3	530	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G168R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	106	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TGCCTCAGCCCGATGGCCACC	0.662													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18397	0.0		0.001	False		,,,				2504	0.0				p.G106R		Atlas-SNP	.											HAPLN3,caecum,carcinoma,0,1	HAPLN3	43	1	0			c.G316A						PASS	.	C	ARG/GLY	2,4398	4.2+/-10.8	0,2,2198	95	76	83		316	4.2	0.4	15	dbSNP_134	83	55,8543	34.8+/-89.0	0,55,4244	yes	missense	HAPLN3	NM_178232.2	125	0,57,6442	TT,TC,CC		0.6397,0.0455,0.4385	probably-damaging	106/361	89424765	57,12941	2200	4299	6499	SO:0001583	missense	145864	exon3			TCAGCCCGATGGC	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.316G>A	15.37:g.89424765C>T	ENSP00000352606:p.Gly106Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_178232	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.60	3.429872	0.62844	4.55E-4	0.006397	ENSG00000140511	ENST00000359595	T	0.65364	-0.15	4.21	4.21	0.49690	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85370	0.1113	10	0.87932	D	0	-31.7116	15.5717	0.76345	0.0:1.0:0.0:0.0	.	106;106	A8K7T8;Q96S86	.;HPLN3_HUMAN	R	106	ENSP00000352606:G106R	ENSP00000352606:G106R	G	-	1	0	HAPLN3	87225769	1.000000	0.71417	0.441000	0.26858	0.188000	0.23474	7.032000	0.76498	1.870000	0.54199	0.650000	0.86243	GGG	C|0.998;T|0.002	0.002	strong		0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89424765	C	T	89424765	3	4	23	1	0	0	0	0	1	0	0	0	6956	652	23	1	778	1	HAPLN3	15	89424765	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26212	89424765	13106627	3573	20029										
MFGE8	4240	hgsc.bcm.edu	37	chr15	89450003	89450003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacccacatcctccgcagcaGgttcacctggacacagggca	9	16	1	0	rs2271714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:89450003G>A	ENST00000566497.1	-	4	455	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	MFGE8_ENST00000268150.8_Silent_p.L132L|MFGE8_ENST00000268151.7_Silent_p.L132L|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000539437.1_Silent_p.L124L|MFGE8_ENST00000542878.1_Silent_p.L88L			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	132	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.L132L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTCCGCAGCAGGTTCACCTGG	0.587													G|||	1047	0.209065	0.4002	0.1787	5008	,	,		18372	0.2798		0.0398	False		,,,				2504	0.0736				p.L132L		Atlas-SNP	.											MFGE8,NS,carcinoma,0,1	MFGE8	60	1	1	Substitution - coding silent(1)	stomach(1)	c.C394T						PASS	.	G	,	1517,2883	481.0+/-359.0	264,989,947	95	76	83		394,394	4.1	1	15	dbSNP_100	83	357,8241	119.2+/-178.6	9,339,3951	no	coding-synonymous,coding-synonymous	MFGE8	NM_001114614.1,NM_005928.2	,	273,1328,4898	AA,AG,GG		4.1521,34.4773,14.4176	,	132/336,132/388	89450003	1874,11124	2200	4299	6499	SO:0001819	synonymous_variant	4240	exon4			GCAGCAGGTTCAC	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.394C>T	15.37:g.89450003G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	78	15	0.192308	NM_001114614	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																			G|0.826;A|0.174	0.174	strong		0.587	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		A	89450003	G	A	89450003	2	1	23	1	0	0	0	0	0	0	0	1	9520	991	35	2		2	MFGE8	15	89450003	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25238	89450003	13081389	3574	20030										
C15orf42	90381	hgsc.bcm.edu	37	chr15	90168693	90168693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagcctgtcactgcttgagTcagagggcaaggaccacggc	15	11	2	2	rs1866928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:90168693T>A	ENST00000268138.7	+	20	5257	c.5152T>A	c.(5152-5154)Tca>Aca	p.S1718T	TICRR_ENST00000560985.1_Missense_Mutation_p.S1717T|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1718			S -> T (in dbSNP:rs1866928). {ECO:0000269|PubMed:14702039}.		cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGCTTGAGTCAGAGGGCAA	0.652													T|||	1933	0.385982	0.466	0.3285	5008	,	,		16768	0.3968		0.335	False		,,,				2504	0.3599				p.S1718T		Atlas-SNP	.											.	.	.	.	0			c.T5152A						PASS	.	T	THR/SER	1793,2607	515.5+/-368.9	343,1107,750	47	51	49		5152	0.7	0	15	dbSNP_92	49	2896,5702	442.5+/-360.1	484,1928,1887	yes	missense	C15orf42	NM_152259.3	58	827,3035,2637	AA,AT,TT		33.6823,40.75,36.0748	benign	1718/1911	90168693	4689,8309	2200	4299	6499	SO:0001583	missense	90381	exon20			CTTGAGTCAGAGG	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5152T>A	15.37:g.90168693T>A	ENSP00000268138:p.Ser1718Thr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	69	52	0.753623	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	781	0.3576007326007326	214	0.4349593495934959	111	0.30662983425414364	200	0.34965034965034963	256	0.33773087071240104	T	9.772	1.173020	0.21704	0.4075	0.336823	ENSG00000140534	ENST00000268138	T	0.08102	3.13	5.51	0.722	0.18225	.	1.173460	0.06260	N	0.693698	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.18013	0.025	B	0.06405	0.002	T	0.46512	-0.9186	9	0.44086	T	0.13	-0.2223	5.1564	0.15036	0.0:0.3823:0.3545:0.2632	rs1866928;rs3825997;rs1866928	1718	Q7Z2Z1	TICRR_HUMAN	T	1718	ENSP00000268138:S1718T	ENSP00000268138:S1718T	S	+	1	0	C15orf42	87969697	0.007000	0.16637	0.002000	0.10522	0.028000	0.11728	0.220000	0.17660	0.356000	0.24157	-1.055000	0.02315	TCA	T|0.635;A|0.365	0.365	strong		0.652	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90168693	T	A	90168693	3	1	23	1	0	0	0	0	1	0	0	0	1796	1667	58	5	5230	5	C15orf42	15	90168693	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	718690	90168693	12362699	3575	20031										
KIF7	374654	hgsc.bcm.edu	37	chr15	90188392	90188392	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcgggccttgctcccaccAactgctgcaacaggcagcct	9	17	0	0	rs72750755	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:90188392A>T	ENST00000394412.3	-	10	2119	c.2043T>A	c.(2041-2043)gtT>gtA	p.V681V		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	681	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCTCCCACCAACTGCTGCAA	0.667													a|||	90	0.0179712	0.0	0.0187	5008	,	,		16240	0.0		0.0338	False		,,,				2504	0.044				p.V681V		Atlas-SNP	.											.	KIF7	130	.	0			c.T2043A						PASS	.			33,4367	37.6+/-69.7	0,33,2167	27	31	30		2043	-3.7	0	15	dbSNP_130	30	364,8234	116.5+/-176.2	5,354,3940	no	coding-synonymous	KIF7	NM_198525.2		5,387,6107	TT,TA,AA		4.2335,0.75,3.0543		681/1344	90188392	397,12601	2200	4299	6499	SO:0001819	synonymous_variant	374654	exon10			CCCACCAACTGCT	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2043T>A	15.37:g.90188392A>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	26	17	0.653846	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	CCDS32325.2																																																																																			A|0.976;T|0.024	0.024	strong		0.667	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		T	90188392	A	T	90188392	2	4	23	1	0	0	0	0	0	0	0	1	8309	117	5	5		5	KIF7	15	90188392	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19699	90188392	12343000	3576	20032										
SEMA4B	10519	hgsc.bcm.edu	37	chr15	90771704	90771704	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctagggccccctagcaccccGctcgatcaccgagggtacca	10	18	1	0	rs3751656	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:90771704G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Silent_p.P781P|SEMA4B_ENST00000332496.6_Silent_p.P781P	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTAGCACCCCGCTCGATCACC	0.652													A|||	1128	0.22524	0.379	0.1729	5008	,	,		15349	0.1062		0.2406	False		,,,				2504	0.1616				p.P781P		Atlas-SNP	.											.	SEMA4B	51	.	0			c.G2343A						PASS	.	A	,	1333,2557		238,857,850	21	24	23		2343,2343	-9.5	0	15	dbSNP_107	23	1777,6455		182,1413,2521	no	coding-synonymous,coding-synonymous	SEMA4B	NM_020210.3,NM_198925.2	,	420,2270,3371	AA,AG,GG		21.5865,34.2674,25.6558	,	781/838,781/838	90771704	3110,9012	1945	4116	6061	SO:0001628	intergenic_variant	10509	exon15			CACCCCGCTCGAT	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771704G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	30	29	0.966667	NM_020210	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Silent	SNP	ENST00000328649.6	37	CCDS10360.1																																																																																			G|0.746;A|0.254	0.254	strong		0.652	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			A	90771704	G	A	90771704	1	1	23	0	1	0	0	0	0	0	0	0	14032	1074	38	1		1	SEMA4B	15	90771704	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	583312	90771704	11759688	3577	20033										
FURIN	5045	hgsc.bcm.edu	37	chr15	91424029	91424029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctagagattgaaaacaccagCgaagccaacaactatggtac	8	10	0	2	rs142489043	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:91424029C>T	ENST00000268171.3	+	14	1944	c.1665C>T	c.(1663-1665)agC>agT	p.S555S		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	555					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAAACACCAGCGAAGCCAACA	0.557													C|||	4	0.000798722	0.0	0.0	5008	,	,		19315	0.0		0.004	False		,,,				2504	0.0				p.S555S		Atlas-SNP	.											.	FURIN	85	.	0			c.C1665T						PASS	.	C		0,4396		0,0,2198	85	83	84		1665	-7.6	0.8	15	dbSNP_134	84	36,8560	25.1+/-72.6	0,36,4262	no	coding-synonymous	FURIN	NM_002569.2		0,36,6460	TT,TC,CC		0.4188,0.0,0.2771		555/795	91424029	36,12956	2198	4298	6496	SO:0001819	synonymous_variant	5045	exon14			CACCAGCGAAGCC	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1665C>T	15.37:g.91424029C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	143	30	0.20979	NM_002569	Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	CCDS10364.1																																																																																			C|0.997;T|0.003	0.003	strong		0.557	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		T	91424029	C	T	91424029	2	4	23	1	0	0	0	0	0	0	0	1	6099	767	27	1		1	FURIN	15	91424029	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	652325	91424029	11107363	3578	20034										
MAN2A2	4122	hgsc.bcm.edu	37	chr15	91452566	91452566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgccccagggcagccctGcttctggaccaataccggaa	10	16	1	0	rs148266546		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:91452566G>A	ENST00000559717.1	+	9	1665	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	MAN2A2_ENST00000360468.3_Silent_p.L402L|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_5'UTR			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	402					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCAGCCCTGCTTCTGGACC	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0				p.L402L		Atlas-SNP	.											.	MAN2A2	99	.	0			c.G1206A						PASS	.	G		0,4396		0,0,2198	56	55	55		1206	4.8	1	15	dbSNP_134	55	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	MAN2A2	NM_006122.2		0,4,6492	AA,AG,GG		0.0465,0.0,0.0308		402/1151	91452566	4,12988	2198	4298	6496	SO:0001819	synonymous_variant	4122	exon8			AGCCCTGCTTCTG	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1206G>A	15.37:g.91452566G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	62	6	0.0967742	NM_006122	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																			G|1.000;A|0.000	0.000	strong		0.572	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		A	91452566	G	A	91452566	2	1	23	1	0	0	0	0	0	0	0	1	9215	1306	46	2		2	MAN2A2	15	91452566	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28537	91452566	11078826	3579	20035										
SV2B	9899	hgsc.bcm.edu	37	chr15	91811749	91811749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacaagtctaaaatgaaggtGttttttggtgagcatgtgta	11	3	1	2	rs3743444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:91811749G>A	ENST00000394232.1	+	9	1757	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	SV2B_ENST00000330276.4_Silent_p.V429V|SV2B_ENST00000545111.2_Silent_p.V278V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	429					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAATGAAGGTGTTTTTTGGTG	0.413													A|||	697	0.139177	0.2595	0.0937	5008	,	,		21557	0.0893		0.1392	False		,,,				2504	0.0603				p.V429V		Atlas-SNP	.											.	SV2B	98	.	0			c.G1287A						PASS	.	A	,	899,3497	739.9+/-411.1	97,705,1396	172	164	166		834,1287	-7.5	0.7	15	dbSNP_107	166	982,7614	773.8+/-407.7	66,850,3382	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	163,1555,4778	AA,AG,GG		11.4239,20.4504,14.4781	,	278/533,429/684	91811749	1881,11111	2198	4298	6496	SO:0001819	synonymous_variant	9899	exon10			GAAGGTGTTTTTT	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1287G>A	15.37:g.91811749G>A		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	95	64	0.673684	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			G|0.848;A|0.152	0.152	strong		0.413	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		A	91811749	G	A	91811749	2	1	23	1	0	0	0	0	0	0	0	1	15415	1364	48	2		2	SV2B	15	91811749	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	359183	91811749	10719643	3580	20036										
SV2B	9899	hgsc.bcm.edu	37	chr15	91825027	91825027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacgagtgctattttgaagaCgtaacatcaacagataccta	8	8	1	3	rs1117388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:91825027C>T	ENST00000394232.1	+	10	1913	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	SV2B_ENST00000330276.4_Silent_p.D481D|SV2B_ENST00000545111.2_Silent_p.D330D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	481					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATTTTGAAGACGTAACATCAA	0.363													T|||	1668	0.333067	0.7617	0.1758	5008	,	,		23051	0.1419		0.2117	False		,,,				2504	0.1871				p.D481D		Atlas-SNP	.											.	SV2B	98	.	0			c.C1443T						PASS	.	T	,	2942,1454	469.8+/-355.6	1014,914,270	112	105	107		990,1443	0.7	1	15	dbSNP_86	107	1690,6906	737.8+/-407.0	174,1342,2782	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	1188,2256,3052	TT,TC,CC		19.6603,33.0755,35.6527	,	330/533,481/684	91825027	4632,8360	2198	4298	6496	SO:0001819	synonymous_variant	9899	exon11			TGAAGACGTAACA	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1443C>T	15.37:g.91825027C>T		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	56	43	0.767857	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			C|0.652;T|0.348	0.348	strong		0.363	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91825027	C	T	91825027	2	4	23	1	0	0	0	0	0	0	0	1	15415	535	19	1		1	SV2B	15	91825027	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13278	91825027	10706365	3581	20037										
ST8SIA2	8128	hgsc.bcm.edu	37	chr15	92987938	92987938	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctggtaaccatgaacccCtcggtcatccagcgggcctt	10	15	1	1	rs2305561	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:92987938C>G	ENST00000268164.3	+	5	858	c.621C>G	c.(619-621)ccC>ccG	p.P207P	ST8SIA2_ENST00000539113.1_Silent_p.P186P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	207					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCATGAACCCCTCGGTCATCC	0.592													C|||	1121	0.223842	0.5968	0.1297	5008	,	,		18692	0.0258		0.1054	False		,,,				2504	0.1125				p.P207P		Atlas-SNP	.											.	ST8SIA2	41	.	0			c.C621G						PASS	.	C		2271,2125	597.1+/-388.8	587,1097,514	69	70	70		621	-0.2	1	15	dbSNP_100	70	1159,7437	236.8+/-268.9	83,993,3222	no	coding-synonymous	ST8SIA2	NM_006011.3		670,2090,3736	GG,GC,CC		13.483,48.3394,26.4009		207/376	92987938	3430,9562	2198	4298	6496	SO:0001819	synonymous_variant	8128	exon5			GAACCCCTCGGTC	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.621C>G	15.37:g.92987938C>G		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	97	17	0.175258	NM_006011	Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	CCDS10372.1																																																																																			C|0.758;G|0.242	0.242	strong		0.592	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		G	92987938	C	G	92987938	2	3	23	1	0	0	0	0	0	0	0	1	15231	668	24	4		4	ST8SIA2	15	92987938	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1162911	92987938	9543454	3582	20038										
CHD2	1106	hgsc.bcm.edu	37	chr15	93552488	93552488	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaactgcctgctgaaaatCggagaccggatagccgagtg	14	10	0	2	rs34315566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:93552488C>T	ENST00000394196.4	+	35	5595	c.4527C>T	c.(4525-4527)atC>atT	p.I1509I	CHD2_ENST00000557381.1_Silent_p.I1509I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1509					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCTGAAAATCGGAGACCGGA	0.527													C|||	74	0.0147764	0.0038	0.0086	5008	,	,		18724	0.0		0.0557	False		,,,				2504	0.0072				p.I1509I		Atlas-SNP	.											.	CHD2	280	.	0			c.C4527T						PASS	.	C		42,4352	43.1+/-76.7	2,38,2157	106	86	93		4527	-5.5	1	15	dbSNP_126	93	466,8130	137.5+/-194.4	12,442,3844	no	coding-synonymous	CHD2	NM_001271.3		14,480,6001	TT,TC,CC		5.4211,0.9558,3.9107		1509/1829	93552488	508,12482	2197	4298	6495	SO:0001819	synonymous_variant	1106	exon35			GAAAATCGGAGAC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4527C>T	15.37:g.93552488C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	66	17	0.257576	NM_001271	C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	CCDS10374.2																																																																																			C|0.967;T|0.033	0.033	strong		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		T	93552488	C	T	93552488	2	4	23	1	0	0	0	0	0	0	0	1	3325	874	31	1		1	CHD2	15	93552488	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	564550	93552488	8978904	3583	20039										
IGF1R	3480	hgsc.bcm.edu	37	chr15	99456369	99456369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcccgcccaacaaggacgtGgagcccggcatcttactaca	9	16	1	0	rs2228531	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:99456369G>A	ENST00000268035.6	+	8	2297	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	IGF1R_ENST00000558762.1_Silent_p.V562V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	562	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACAAGGACGTGGAGCCCGGCA	0.567													G|||	22	0.00439297	0.0008	0.0072	5008	,	,		19039	0.0		0.0149	False		,,,				2504	0.001				p.V562V		Atlas-SNP	.											.	IGF1R	147	.	0			c.G1686A						PASS	.	G		12,4382	19.1+/-41.9	0,12,2185	99	78	85		1686	-9.1	0	15	dbSNP_98	85	117,8477	61.7+/-123.6	0,117,4180	no	coding-synonymous	IGF1R	NM_000875.3		0,129,6365	AA,AG,GG		1.3614,0.2731,0.9932		562/1368	99456369	129,12859	2197	4297	6494	SO:0001819	synonymous_variant	3480	exon8			GGACGTGGAGCCC	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1686G>A	15.37:g.99456369G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																			G|0.990;A|0.010	0.010	strong		0.567	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99456369	G	A	99456369	2	1	23	1	0	0	0	0	0	0	0	1	7571	1335	47	2		2	IGF1R	15	99456369	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5903881	99456369	3075023	3584	20040										
MEF2A	4205	hgsc.bcm.edu	37	chr15	100250918	100250918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtcgctgggacaggtgtcGgcctggcagcagcaccacct	14	14	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:100250918G>A	ENST00000557785.1	+	10	1414	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	MEF2A_ENST00000449277.2_Silent_p.S287S|MEF2A_ENST00000557942.1_Silent_p.S363S|MEF2A_ENST00000558812.1_Silent_p.S295S|MEF2A_ENST00000453228.2_Silent_p.S355S|MEF2A_ENST00000338042.6_Silent_p.S364S|MEF2A_ENST00000354410.5_Silent_p.S357S	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	365					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GACAGGTGTCGGCCTGGCAGC	0.537																																					p.S357S		Atlas-SNP	.											.	MEF2A	138	.	0			c.G1071A						PASS	.						51	53	53					15																	100250918		2046	4203	6249	SO:0001819	synonymous_variant	4205	exon10			GGTGTCGGCCTGG		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1065G>A	15.37:g.100250918G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	97	71	0.731959	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	ENST00000557785.1	37	CCDS53978.1																																																																																			.	.	none		0.537	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			A	100250918	G	A	100250918	2	1	23	1	0	0	0	0	0	0	0	1	9455	1103	39	1		1	MEF2A	15	100250918	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	794549	100250918	2280474	3585	20041										
MEF2A	4205	hgsc.bcm.edu	37	chr15	100252892	100252892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggggcgacttccattctccAattgtgcttggccgaccccc	10	16	1	0	rs34851361	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:100252892A>G	ENST00000557785.1	+	11	1759	c.1410A>G	c.(1408-1410)ccA>ccG	p.P470P	MEF2A_ENST00000449277.2_Silent_p.P402P|MEF2A_ENST00000557942.1_Silent_p.P478P|MEF2A_ENST00000558812.1_Silent_p.P410P|MEF2A_ENST00000453228.2_Silent_p.P470P|MEF2A_ENST00000338042.6_Silent_p.P479P|MEF2A_ENST00000354410.5_Silent_p.P472P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	480					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCATTCTCCAATTGTGCTTG	0.562													A|||	151	0.0301518	0.0129	0.0418	5008	,	,		14123	0.0		0.0795	False		,,,				2504	0.0256				p.P472P		Atlas-SNP	.											.	MEF2A	138	.	0			c.A1416G						PASS	.	A	,,,,	85,4001		0,85,1958	38	40	39		1410,1230,1206,1410,1416	-11.9	0	15	dbSNP_126	39	705,7679		32,641,3519	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MEF2A	NM_001130926.1,NM_001130927.1,NM_001130928.1,NM_001171894.1,NM_005587.2	,,,,	32,726,5477	GG,GA,AA		8.4089,2.0803,6.3352	,,,,	470/498,410/438,402/430,470/498,472/500	100252892	790,11680	2043	4192	6235	SO:0001819	synonymous_variant	4205	exon11			TTCTCCAATTGTG		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1410A>G	15.37:g.100252892A>G		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	104	22	0.211538	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	ENST00000557785.1	37	CCDS53978.1																																																																																			A|0.949;G|0.051	0.051	strong		0.562	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			G	100252892	A	G	100252892	2	3	23	1	0	0	0	0	0	0	0	1	9455	117	5	2		2	MEF2A	15	100252892	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1974	100252892	2278500	3586	20042										
ADAMTS17	170691	hgsc.bcm.edu	37	chr15	100636586	100636586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccgggcgtggctgaagtcGcccttcaccaagtggcaggt	14	14	1	1	rs4965583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:100636586G>A	ENST00000268070.4	-	15	2217	c.2112C>T	c.(2110-2112)ggC>ggT	p.G704G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	704	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCTGAAGTCGCCCTTCACCA	0.577													g|||	1321	0.263778	0.2504	0.2925	5008	,	,		17908	0.5		0.1262	False		,,,				2504	0.1595				p.G704G		Atlas-SNP	.											.	ADAMTS17	127	.	0			c.C2112T						PASS	.	G		1028,3378	376.8+/-322.2	113,802,1288	110	118	115		2112	-9.5	0.9	15	dbSNP_111	115	1127,7473	231.2+/-265.3	82,963,3255	no	coding-synonymous	ADAMTS17	NM_139057.2		195,1765,4543	AA,AG,GG		13.1047,23.3318,16.5693		704/1096	100636586	2155,10851	2203	4300	6503	SO:0001819	synonymous_variant	170691	exon15			GAAGTCGCCCTTC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2112C>T	15.37:g.100636586G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	25	0.581395	NM_139057	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																			G|0.801;A|0.199	0.199	strong		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100636586	G	A	100636586	2	1	23	1	0	0	0	0	0	0	0	1	262	1074	38	1		1	ADAMTS17	15	100636586	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	383694	100636586	1894806	3587	20043										
LINS1	55180	hgsc.bcm.edu	37	chr15	101109683	101109683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagaaccagaggccttgaTggaggctcaaggctaaattc	11	9	2	3	rs1047320	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:101109683T>C	ENST00000314742.8	-	7	2256	c.2034A>G	c.(2032-2034)ccA>ccG	p.P678P	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	678										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GAGGCCTTGATGGAGGCTCAA	0.423													T|||	45	0.00898562	0.0015	0.0216	5008	,	,		18428	0.0		0.0258	False		,,,				2504	0.002				p.P678P		Atlas-SNP	.											.	LINS	62	.	0			c.A2034G						PASS	.	T		16,4390	23.3+/-48.9	0,16,2187	85	86	86		2034	-4.4	0	15	dbSNP_86	86	219,8381	89.9+/-152.1	3,213,4084	no	coding-synonymous	LINS	NM_001040616.2		3,229,6271	CC,CT,TT		2.5465,0.3631,1.8069		678/758	101109683	235,12771	2203	4300	6503	SO:0001819	synonymous_variant	55180	exon7			CCTTGATGGAGGC	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2034A>G	15.37:g.101109683T>C		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	56	53	0.946429	NM_001040616	Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																			T|0.982;C|0.018	0.018	strong		0.423	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		C	101109683	T	C	101109683	2	2	23	1	0	0	0	0	0	0	0	1	8818	1451	51	2		2	LINS1	15	101109683	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	473097	101109683	1421709	3588	20044										
LRRK1	79705	hgsc.bcm.edu	37	chr15	101567971	101567971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggagcagacgcccgacaaCgacatcaaggactacgagga	13	11	1	1	rs41535348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:101567971C>T	ENST00000388948.3	+	19	3014	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N	LRRK1_ENST00000284395.5_Silent_p.N882N	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)			CGCCCGACAACGACATCAAGG	0.632													C|||	18	0.00359425	0.0008	0.0029	5008	,	,		18583	0.0		0.008	False		,,,				2504	0.0072				p.N885N		Atlas-SNP	.											.	LRRK1	310	.	0			c.C2655T						PASS	.	C		6,4338		0,6,2166	26	37	34		2655	-8.9	0	15	dbSNP_127	34	87,8451		0,87,4182	no	coding-synonymous	LRRK1	NM_024652.3		0,93,6348	TT,TC,CC		1.019,0.1381,0.7219		885/2016	101567971	93,12789	2172	4269	6441	SO:0001819	synonymous_variant	79705	exon19			CGACAACGACATC	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.2655C>T	15.37:g.101567971C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	129	31	0.24031	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			C|0.995;T|0.005	0.005	strong		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101567971	C	T	101567971	2	4	23	1	0	0	0	0	0	0	0	1	9032	535	19	1		1	LRRK1	15	101567971	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	458288	101567971	963421	3589	20045										
CHSY1	22856	hgsc.bcm.edu	37	chr15	101717888	101717888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacatcaaagccacccactCggacaagatctcccttataa	4	14	2	1	rs62621399	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr15:101717888C>T	ENST00000254190.3	-	3	2589	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	705					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)			GCCACCCACTCGGACAAGATC	0.478													C|||	262	0.0523163	0.0061	0.0663	5008	,	,		19215	0.002		0.1561	False		,,,				2504	0.0501				p.R705Q		Atlas-SNP	.											CHSY1,colon,carcinoma,-1,1	CHSY1	60	1	0			c.G2114A						scavenged	.	C	GLN/ARG	121,4285	90.6+/-129.3	1,119,2083	103	113	109		2114	4.7	0.9	15	dbSNP_129	109	1221,7379	246.0+/-274.6	96,1029,3175	yes	missense	CHSY1	NM_014918.4	43	97,1148,5258	TT,TC,CC		14.1977,2.7463,10.3183	benign	705/803	101717888	1342,11664	2203	4300	6503	SO:0001583	missense	22856	exon3			CCCACTCGGACAA	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.2114G>A	15.37:g.101717888C>T	ENSP00000254190:p.Arg705Gln	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	79	22	0.278481	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	154	0.07051282051282051	5	0.01016260162601626	29	0.08011049723756906	1	0.0017482517482517483	119	0.15699208443271767	C	11.62	1.693241	0.30052	0.027463	0.141977	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.35048	1.33	5.6	4.69	0.59074	.	0.069705	0.56097	D	0.000021	T	0.00109	0.0003	N	0.25647	0.755	0.21147	P	0.999773402	P	0.48016	0.904	B	0.39771	0.309	T	0.12502	-1.0545	9	0.12103	T	0.63	-20.3917	14.5886	0.68347	0.0:0.9297:0.0:0.0703	rs62621399	705	Q86X52	CHSS1_HUMAN	Q	705;433	ENSP00000254190:R705Q	ENSP00000254190:R705Q	R	-	2	0	CHSY1	99535411	0.939000	0.31865	0.923000	0.36655	0.963000	0.63663	1.711000	0.37930	1.365000	0.46057	0.561000	0.74099	CGA	C|0.907;G|0.000;T|0.093	0.093	strong		0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		T	101717888	C	T	101717888	3	4	23	1	0	0	0	0	1	0	0	0	3412	884	31	1	298	1	CHSY1	15	101717888	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	149917	101717888	813504	3590	20046										
RGS11	8786	hgsc.bcm.edu	37	chr16	319511	319511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgggctcaccgtctcttcAtctccagcgggatcccagcc	9	18	4	0	rs739999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:319511A>G	ENST00000397770.3	-	16	1297	c.1280T>C	c.(1279-1281)aTg>aCg	p.M427T	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.M416T|ITFG3_ENST00000600536.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.M406T|ITFG3_ENST00000442458.2_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	427			M -> T (in dbSNP:rs739999).		G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCGTCTCTTCATCTCCAGCGG	0.657													G|||	1547	0.308906	0.6415	0.2493	5008	,	,		17262	0.3194		0.0785	False		,,,				2504	0.1278				p.M427T		Atlas-SNP	.											RGS11,colon,carcinoma,0,1	RGS11	29	1	0			c.T1280C						scavenged	.	G	THR/MET,THR/MET	2422,1982	554.5+/-379.0	673,1076,453	57	55	55		1217,1280	3.5	0	16	dbSNP_86	55	769,7831	782.9+/-407.6	45,679,3576	yes	missense,missense	RGS11	NM_003834.1,NM_183337.1	81,81	718,1755,4029	GG,GA,AA		8.9419,45.0045,24.5386	benign,benign	406/447,427/468	319511	3191,9813	2202	4300	6502	SO:0001583	missense	8786	exon16			CTCTTCATCTCCA	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1280T>C	16.37:g.319511A>G	ENSP00000380876:p.Met427Thr	Somatic	260	2	0.00769231		WXS	Illumina HiSeq	Phase_I	196	81	0.413265	NM_183337	O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	CCDS42088.1	644	0.2948717948717949	304	0.6178861788617886	87	0.24033149171270718	195	0.3409090909090909	58	0.07651715039577836	G	4.184	0.032829	0.08101	0.549955	0.089419	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.24538	1.86;1.85;1.86	4.42	3.46	0.39613	.	0.327034	0.31821	N	0.007020	T	0.00012	0.0000	N	0.00152	-1.975	0.09310	P	0.999999999866987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44697	-0.9311	9	0.05959	T	0.93	-12.3827	9.475	0.38867	0.1772:0.0:0.8228:0.0	rs739999;rs57130699;rs739999	416;427;427	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	T	427;406;416	ENSP00000380876:M427T;ENSP00000319069:M406T;ENSP00000352778:M416T	ENSP00000319069:M406T	M	-	2	0	RGS11	259512	1.000000	0.71417	0.046000	0.18839	0.044000	0.14063	4.897000	0.63231	0.341000	0.23771	-1.212000	0.01626	ATG	A|0.720;G|0.280	0.280	strong		0.657	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			G	319511	A	G	319511	3	3	23	1	0	0	0	0	1	0	0	0	13294	217	8	2	131	2	RGS11	16	319511	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10		319511	90035242	3591	20047										
PDIA2	64714	hgsc.bcm.edu	37	chr16	336396	336396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accccctgattgggatcagcGgccagttaagaccctcgtgg	12	13	1	2	rs400037	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:336396G>A	ENST00000219406.6	+	8	1181	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	PDIA2_ENST00000404312.1_Missense_Mutation_p.R385Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	388	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> Q (in dbSNP:rs400037).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGGATCAGCGGCCAGTTAAG	0.562													g|||	844	0.16853	0.3457	0.1455	5008	,	,		12070	0.0377		0.1899	False		,,,				2504	0.0583				p.R388Q		Atlas-SNP	.											.	PDIA2	51	.	0			c.G1163A						PASS	.		GLN/ARG	1142,2676		163,816,930	58	64	62		1163	-2.3	1	16	dbSNP_80	62	1679,6571		183,1313,2629	yes	missense	PDIA2	NM_006849.2	43	346,2129,3559	AA,AG,GG		20.3515,29.9109,23.3759	benign	388/526	336396	2821,9247	1909	4125	6034	SO:0001583	missense	64714	exon8			ATCAGCGGCCAGT	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1163G>A	16.37:g.336396G>A	ENSP00000219406:p.Arg388Gln	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	230	105	0.456522	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	394	0.1804029304029304	177	0.3597560975609756	51	0.1408839779005525	27	0.0472027972027972	139	0.18337730870712401	g	0.021	-1.423957	0.01126	0.299109	0.203515	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.16897	2.31;2.31;3.97	4.04	-2.31	0.06765	Thioredoxin-like fold (3);	1.119980	0.06633	N	0.759534	T	0.00012	0.0000	N	0.01188	-0.97	0.80722	P	0.0	B	0.12013	0.005	B	0.10450	0.005	T	0.46442	-0.9191	9	0.02654	T	1	.	9.7883	0.40690	0.6167:0.0:0.3833:0.0	rs400037;rs58645006;rs400037	388	Q13087	PDIA2_HUMAN	Q	388;357;385;17	ENSP00000219406:R388Q;ENSP00000384410:R385Q;ENSP00000405081:R17Q	ENSP00000219406:R388Q	R	+	2	0	PDIA2	276397	0.000000	0.05858	0.958000	0.39756	0.812000	0.45895	-0.094000	0.11094	-0.251000	0.09542	0.479000	0.44913	CGG	G|0.810;A|0.190	0.190	strong		0.562	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	336396	G	A	336396	3	1	23	1	0	0	0	0	1	0	0	0	11668	1116	39	1	1193	1	PDIA2	16	336396	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16885	336396	90018357	3592	20048										
AXIN1	8312	hgsc.bcm.edu	37	chr16	347184	347184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggcgctcttccccgactcAgccttcttggcatttctttt	7	15	4	0	rs214252	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:347184A>G	ENST00000262320.3	-	7	2198	c.1827T>C	c.(1825-1827)gcT>gcC	p.A609A	AXIN1_ENST00000481769.1_5'Flank|AXIN1_ENST00000354866.3_Silent_p.A609A	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	609	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCCCCGACTCAGCCTTCTTGG	0.612													A|||	1048	0.209265	0.4281	0.17	5008	,	,		14273	0.0546		0.2237	False		,,,				2504	0.0859				p.A609A		Atlas-SNP	.											.	AXIN1	290	.	0			c.T1827C						PASS	.	A	,	1696,2710	513.6+/-368.4	325,1046,832	192	187	189		1827,1827	-10.3	0	16	dbSNP_79	189	1958,6642	345.8+/-325.9	232,1494,2574	no	coding-synonymous,coding-synonymous	AXIN1	NM_003502.3,NM_181050.2	,	557,2540,3406	GG,GA,AA		22.7674,38.493,28.0947	,	609/863,609/827	347184	3654,9352	2203	4300	6503	SO:0001819	synonymous_variant	8312	exon7			CGACTCAGCCTTC	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1827T>C	16.37:g.347184A>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	61	33	0.540984	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																			A|0.746;G|0.254	0.254	strong		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			G	347184	A	G	347184	2	3	23	1	0	0	0	0	0	0	0	1	1236	175	7	3		3	AXIN1	16	347184	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10788	347184	90007569	3593	20049										
TMEM8A	58986	hgsc.bcm.edu	37	chr16	427452	427452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgggggccgggtgggaaaCgttgacggaggcattgcttc	18	10	0	1	rs146645376	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:427452C>T	ENST00000431232.2	-	3	593	c.433G>A	c.(433-435)Gtt>Att	p.V145I	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	145					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGTGGGAAACGTTGACGGAG	0.692											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	3	0.000599042	0.0	0.0014	5008	,	,		15162	0.0		0.002	False		,,,				2504	0.0				p.V145I		Atlas-SNP	.											.	TMEM8A	49	.	0			c.G433A						PASS	.	C	ILE/VAL	1,4383		0,1,2191	20	21	21		433	-2.8	0.7	16	dbSNP_134	21	21,8571		0,21,4275	yes	missense	TMEM8A	NM_021259.2	29	0,22,6466	TT,TC,CC		0.2444,0.0228,0.1695	benign	145/772	427452	22,12954	2192	4296	6488	SO:0001583	missense	58986	exon3			GGGAAACGTTGAC	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.433G>A	16.37:g.427452C>T	ENSP00000401338:p.Val145Ile	Somatic	124	0	0	588	WXS	Illumina HiSeq	Phase_I	166	76	0.457831	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	2.751	-0.260131	0.05791	2.28E-4	0.002444	ENSG00000129925	ENST00000431232	T	0.22945	1.93	4.59	-2.78	0.05859	.	0.629806	0.14558	N	0.312254	T	0.09158	0.0226	N	0.16833	0.445	0.80722	D	1	B	0.16396	0.017	B	0.06405	0.002	T	0.28364	-1.0046	10	0.15066	T	0.55	-0.0054	12.862	0.57918	0.0:0.1718:0.0:0.8282	.	145	Q9HCN3	TMM8A_HUMAN	I	145	ENSP00000401338:V145I	ENSP00000401338:V145I	V	-	1	0	TMEM8A	367453	0.069000	0.21087	0.699000	0.30290	0.293000	0.27360	-0.831000	0.04405	-0.760000	0.04677	0.563000	0.77884	GTT	C|0.998;T|0.002	0.002	strong		0.692	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		T	427452	C	T	427452	3	4	23	1	0	0	0	0	1	0	0	0	16211	536	19	1	1926	1	TMEM8A	16	427452	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	80268	427452	89927301	3594	20050										
MSLN	10232	hgsc.bcm.edu	37	chr16	816977	816977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctttccagaacatgaacgGgtccgaatacttcgtgaaga	10	9	0	4	rs35935235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:816977G>A	ENST00000382862.3	+	14	1585	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	MSLN_ENST00000566549.1_Missense_Mutation_p.G489E|MSLN_ENST00000545450.2_Missense_Mutation_p.G489E|MSLN_ENST00000563941.1_Missense_Mutation_p.G489E	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	497			G -> E (in dbSNP:rs35935235).		cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AACATGAACGGGTCCGAATAC	0.632													G|||	71	0.0141773	0.0008	0.0274	5008	,	,		18257	0.0		0.0487	False		,,,				2504	0.002				p.G497E		Atlas-SNP	.											.	MSLN	109	.	0			c.G1490A						PASS	.	G	GLU/GLY,GLU/GLY,GLU/GLY	28,4350	35.2+/-66.4	1,26,2162	77	78	78		1466,1466,1490	1.3	0	16	dbSNP_126	78	426,8158	131.3+/-189.1	13,400,3879	yes	missense,missense,missense	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	98,98,98	14,426,6041	AA,AG,GG		4.9627,0.6396,3.5025	probably-damaging,probably-damaging,probably-damaging	489/623,489/623,497/631	816977	454,12508	2189	4292	6481	SO:0001583	missense	10232	exon14			TGAACGGGTCCGA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1490G>A	16.37:g.816977G>A	ENSP00000372313:p.Gly497Glu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	115	62	0.53913	NM_013404	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	45	0.020604395604395604	0	0.0	11	0.03038674033149171	0	0.0	34	0.044854881266490766	G	10.49	1.365385	0.24684	0.006396	0.049627	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.22945	1.93;1.93	4.61	1.27	0.21489	.	0.704071	0.13480	N	0.384736	T	0.04048	0.0113	M	0.63843	1.955	0.09310	N	1	P;P;B;P	0.36354	0.493;0.549;0.161;0.493	B;B;B;B	0.40901	0.232;0.343;0.155;0.232	T	0.08146	-1.0736	10	0.33141	T	0.24	-15.5221	3.3382	0.07108	0.224:0.0:0.5571:0.2189	rs35935235;rs62032553	488;497;489;489	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	E	497;489;489;497	ENSP00000442965:G489E;ENSP00000372313:G497E	ENSP00000372313:G497E	G	+	2	0	MSLN	756978	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.178000	0.16820	0.553000	0.29044	0.543000	0.68304	GGG	G|0.968;A|0.032	0.032	strong		0.632	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	816977	G	A	816977	3	1	23	1	0	0	0	0	1	0	0	0	9881	1232	43	2	1540	2	MSLN	16	816977	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	389525	816977	89537776	3595	20051										
CHTF18	63922	hgsc.bcm.edu	37	chr16	841238	841238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgagaggccttcccggaaGcccaggcccagtgttgagcc	13	15	0	2	rs151271197	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:841238G>A	ENST00000262315.9	+	8	1035	c.972G>A	c.(970-972)aaG>aaA	p.K324K	RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000455171.2_Silent_p.K352K|CHTF18_ENST00000317063.6_Silent_p.K519K	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	324					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTTCCCGGAAGCCCAGGCCCA	0.642													G|||	27	0.00539137	0.0	0.0058	5008	,	,		18196	0.0		0.008	False		,,,				2504	0.0153				p.K324K		Atlas-SNP	.											.	CHTF18	52	.	0			c.G972A						PASS	.	G		5,4119		0,5,2057	19	24	22		972	1.3	1	16	dbSNP_134	22	86,8280		1,84,4098	no	coding-synonymous	CHTF18	NM_022092.2		1,89,6155	AA,AG,GG		1.028,0.1212,0.7286		324/976	841238	91,12399	2062	4183	6245	SO:0001819	synonymous_variant	63922	exon8			CCGGAAGCCCAGG	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.972G>A	16.37:g.841238G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	79	41	0.518987	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1	10	0.004578754578754579	0	0.0	3	0.008287292817679558	0	0.0	7	0.009234828496042216	G	1.548	-0.540090	0.04053	0.001212	0.01028	ENSG00000127586	ENST00000426047	.	.	.	4.85	1.28	0.21552	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.41571	D	0.988681	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	-39.2725	5.5091	0.16870	0.4904:0.0:0.5096:0.0	.	.	.	.	T	220	.	.	A	+	1	0	CHTF18	781239	0.890000	0.30428	0.994000	0.49952	0.848000	0.48234	0.510000	0.22723	0.579000	0.29504	0.579000	0.79373	GCC	G|0.995;A|0.005	0.005	strong		0.642	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		A	841238	G	A	841238	2	1	23	1	0	0	0	0	0	0	0	1	3414	962	34	2		2	CHTF18	16	841238	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24261	841238	89513515	3596	20052										
TPSG1	8912	hgsc.bcm.edu	37	chr16	1271983	1271983	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagttcacgtaggcagggacAcgagtgtagactcccggcct	13	12	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1271983A>G	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Silent_p.R257R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGCAGGGACACGAGTGTAGA	0.672																																					p.R257R		Atlas-SNP	.											TPSG1,face,carcinoma,-2,1	TPSG1	19	1	0			c.T771C						scavenged	.						29	39	35					16																	1271983		2195	4297	6492	SO:0001628	intergenic_variant	25823	exon6			AGGGACACGAGTG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271983A>G		Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	236	3	0.0127119	NM_012467	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																			.	.	none		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		G	1271983	A	G	1271983	1	3	23	0	1	0	0	0	0	0	0	0	16423	146	6	2		2	TPSG1	16	1271983	IGR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	430745	1271983	89082770	3597	20053										
TPSAB1	7177	hgsc.bcm.edu	37	chr16	1291621	1291621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagccacgtccacacggtCaccctgccccctgcctcaga	7	21	2	1	rs372314315	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1291621C>T	ENST00000338844.3	+	4	453	c.420C>T	c.(418-420)gtC>gtT	p.V140V	TPSAB1_ENST00000461509.2_Silent_p.V147V	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCCACACGGTCACCCTGCCCC	0.657													C|||	141	0.028155	0.0045	0.0303	5008	,	,		17950	0.0119		0.0427	False		,,,				2504	0.0603				p.V140V		Atlas-SNP	.											TPSAB1,NS,carcinoma,0,1	TPSAB1	24	1	0			c.C420T						PASS	.						29	24	25					16																	1291621		2198	4297	6495	SO:0001819	synonymous_variant	7177	exon4			CACGGTCACCCTG	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.420C>T	16.37:g.1291621C>T		Somatic	417	1	0.00239808		WXS	Illumina HiSeq	Phase_I	708	173	0.24435	NM_003294	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																			.	.	weak		0.657	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291621	C	T	1291621	2	4	23	1	0	0	0	0	0	0	0	1	16420	813	29	2		2	TPSAB1	16	1291621	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	19638	1291621	89063132	3598	20054										
TPSD1	23430	hgsc.bcm.edu	37	chr16	1306680	1306680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctaaccgcggcgcactgCgtggaaccgtgagtctcctg	14	13	1	1	rs1969653	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1306680C>T	ENST00000211076.3	+	2	394	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.C75C	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CGGCGCACTGCGTGGAACCGT	0.706													-|||	857	0.171126	0.289	0.2522	5008	,	,		17255	0.122		0.0994	False		,,,				2504	0.0787				p.C82C		Atlas-SNP	.											.	TPSD1	47	.	0			c.C246T						PASS	.	C		1176,3222		169,838,1192	39	48	45		246	-3	0	16	dbSNP_92	45	797,7799		30,737,3531	no	coding-synonymous	TPSD1	NM_012217.2		199,1575,4723	TT,TC,CC		9.2718,26.7394,15.1839		82/243	1306680	1973,11021	2199	4298	6497	SO:0001819	synonymous_variant	23430	exon2			GCACTGCGTGGAA	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.246C>T	16.37:g.1306680C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	157	81	0.515924	NM_012217	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																			C|0.850;T|0.150	0.150	strong		0.706	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			T	1306680	C	T	1306680	2	4	23	1	0	0	0	0	0	0	0	1	16422	776	27	1		1	TPSD1	16	1306680	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15059	1306680	89048073	3599	20055										
CLCN7	1186	hgsc.bcm.edu	37	chr16	1500501	1500501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccggccccactcaccgcCgcccccgtgaggtaggacag	11	20	1	1	rs117461525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1500501C>T	ENST00000382745.4	-	17	2219	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	CLCN7_ENST00000262318.8_Silent_p.A514A|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.A514A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	538					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CACTCACCGCCGCCCCCGTGA	0.697													C|||	187	0.0373403	0.0189	0.0749	5008	,	,		11861	0.0		0.0875	False		,,,				2504	0.0225				p.A538A		Atlas-SNP	.											.	CLCN7	53	.	0			c.G1614A						PASS	.	C	,	145,4175		2,141,2017	15	18	17		1542,1614	-9	0.9	16	dbSNP_132	17	851,7713		35,781,3466	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	37,922,5483	TT,TC,CC		9.9369,3.3565,7.7305	,	514/782,538/806	1500501	996,11888	2160	4282	6442	SO:0001819	synonymous_variant	1186	exon17			CACCGCCGCCCCC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1614G>A	16.37:g.1500501C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	66	37	0.560606	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			C|0.940;T|0.060	0.060	strong		0.697	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1500501	C	T	1500501	2	4	23	1	0	0	0	0	0	0	0	1	3468	639	23	1		1	CLCN7	16	1500501	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	193821	1500501	88854252	3600	20056										
CLCN7	1186	hgsc.bcm.edu	37	chr16	1502857	1502857	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgacggcggccaccagcaCggcctcaatcacctgcaggc					rs12926089	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1502857C>T	ENST00000382745.4	-	15	1857	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	CLCN7_ENST00000262318.8_Missense_Mutation_p.V394M|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.V394M	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	418			V -> M (in dbSNP:rs12926089). {ECO:0000269|PubMed:14584882}.		chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCCACCAGCACGGCCTCAATC	0.677													T|||	395	0.0788738	0.1604	0.0951	5008	,	,		15111	0.0		0.0924	False		,,,				2504	0.0245				p.V418M		Atlas-SNP	.											.	CLCN7	53	.	0			c.G1252A	GRCh37	CM057585	CLCN7	M	rs12926089	PASS	.	T	MET/VAL,MET/VAL	711,3631		63,585,1523	14	14	14		1180,1252	2.9	1	16	dbSNP_121	14	887,7653		48,791,3431	yes	missense,missense	CLCN7	NM_001114331.1,NM_001287.4	21,21	111,1376,4954	TT,TC,CC		10.3864,16.3749,12.4049	benign,benign	394/782,418/806	1502857	1598,11284	2171	4270	6441	SO:0001583	missense	1186	exon15			CCAGCACGGCCTC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1252G>A	16.37:g.1502857C>T	ENSP00000372193:p.Val418Met	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	108	45	0.416667	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	200	0.09157509157509157	83	0.16869918699186992	38	0.10497237569060773	0	0.0	79	0.10422163588390501	T	0.173	-1.069814	0.01918	0.163749	0.103864	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94723	-3.5;-3.5	5.15	2.86	0.33363	Chloride channel, core (2);	0.115098	0.85682	N	0.000000	T	0.01320	0.0043	N	0.16862	0.45	0.53005	P	3.799999999998249E-5	B;B	0.16603	0.018;0.005	B;B	0.17722	0.019;0.007	T	0.44267	-0.9339	9	0.23302	T	0.38	-20.2438	8.1552	0.31165	0.0:0.2533:0.0:0.7467	rs12926089;rs59307144;rs12926089	394;418	E9PDB9;P51798	.;CLCN7_HUMAN	M	394;371;418;360	ENSP00000410907:V394M;ENSP00000372193:V418M	ENSP00000262318:V371M	V	-	1	0	CLCN7	1442858	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	1.084000	0.30828	0.005000	0.14708	-0.361000	0.07541	GTG	C|0.889;T|0.111	0.111	strong		0.677	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1502857	C	T	1502857	3	4	23	1	0	0	0	0	1	0	0	0	3468	536	19	1	1209	1	CLCN7	16	1502857	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2356	1502857	88851896	3601	20057	407	2								
CLCN7	1186	hgsc.bcm.edu	37	chr16	1502864	1502864	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggccaccagcacggcctcAatcacctgcaggcagggccg					rs12926669	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1502864A>G	ENST00000382745.4	-	15	1850	c.1245T>C	c.(1243-1245)atT>atC	p.I415I	CLCN7_ENST00000262318.8_Silent_p.I391I|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.I391I	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	415				I -> V (in Ref. 2; BAG51745). {ECO:0000305}.	chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCACGGCCTCAATCACCTGCA	0.672													G|||	311	0.0621006	0.1051	0.0836	5008	,	,		15014	0.0		0.0895	False		,,,				2504	0.0245				p.I415I		Atlas-SNP	.											.	CLCN7	53	.	0			c.T1245C						PASS	.	G	,	496,3848		24,448,1700	14	14	14		1173,1245	-10.3	0.1	16	dbSNP_121	14	846,7700		39,768,3466	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	63,1216,5166	GG,GA,AA		9.8994,11.418,10.4112	,	391/782,415/806	1502864	1342,11548	2172	4273	6445	SO:0001819	synonymous_variant	1186	exon15			GGCCTCAATCACC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1245T>C	16.37:g.1502864A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	107	47	0.439252	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			A|0.912;G|0.088	0.088	strong		0.672	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		G	1502864	A	G	1502864	2	3	23	1	0	0	0	0	0	0	0	1	3468	126	5	2		2	CLCN7	16	1502864	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7	1502864	88851889	3602	20058	407	2								
CLCN7	1186	hgsc.bcm.edu	37	chr16	1504437	1504437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgcccatggcgatgaagacCgggatctcgtggatcgtgta	14	10	1	2	rs12935737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1504437C>T	ENST00000382745.4	-	13	1733	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	CLCN7_ENST00000262318.8_Silent_p.P352P|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.P352P	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	376					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATGAAGACCGGGATCTCGT	0.597													C|||	187	0.0373403	0.0197	0.0706	5008	,	,		19133	0.0		0.0875	False		,,,				2504	0.0245				p.P376P		Atlas-SNP	.											CLCN7,NS,carcinoma,0,1	CLCN7	53	1	0			c.G1128A						PASS	.	C	,	149,4249	102.5+/-141.1	0,149,2050	121	94	103		1056,1128	-4.9	0.9	16	dbSNP_121	103	889,7711	198.5+/-242.8	42,805,3453	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	42,954,5503	TT,TC,CC		10.3372,3.3879,7.9858	,	352/782,376/806	1504437	1038,11960	2199	4300	6499	SO:0001819	synonymous_variant	1186	exon13			GAAGACCGGGATC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1128G>A	16.37:g.1504437C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	115	53	0.46087	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			C|0.926;T|0.074	0.074	strong		0.597	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1504437	C	T	1504437	2	4	23	1	0	0	0	0	0	0	0	1	3468	639	23	1		1	CLCN7	16	1504437	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1573	1504437	88850316	3603	20059										
CLCN7	1186	hgsc.bcm.edu	37	chr16	1509123	1509123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaccttgagccgcaccacGtgggggatcttcaccccgtt	10	16	3	1	rs12923538	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1509123G>A	ENST00000382745.4	-	7	1265	c.660C>T	c.(658-660)caC>caT	p.H220H	CLCN7_ENST00000262318.8_Silent_p.H196H|CLCN7_ENST00000448525.1_Silent_p.H196H	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	220					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCCGCACCACGTGGGGGATCT	0.662													G|||	611	0.122005	0.2352	0.1225	5008	,	,		18275	0.0099		0.1113	False		,,,				2504	0.0951				p.H220H		Atlas-SNP	.											CLCN7,colon,carcinoma,-1,1	CLCN7	53	1	0			c.C660T						scavenged	.	G	,	880,3516	332.0+/-302.3	101,678,1419	42	45	44		588,660	-1.5	1	16	dbSNP_121	44	1124,7476	228.4+/-263.5	77,970,3253	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	178,1648,4672	AA,AG,GG		13.0698,20.0182,15.4201	,	196/782,220/806	1509123	2004,10992	2198	4300	6498	SO:0001819	synonymous_variant	1186	exon7			CACCACGTGGGGG	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.660C>T	16.37:g.1509123G>A		Somatic	242	2	0.00826446		WXS	Illumina HiSeq	Phase_I	248	142	0.572581	NM_001287	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			G|0.854;A|0.146	0.146	strong		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1509123	G	A	1509123	2	1	23	1	0	0	0	0	0	0	0	1	3468	1136	40	1		1	CLCN7	16	1509123	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4686	1509123	88845630	3604	20060										
TELO2	9894	hgsc.bcm.edu	37	chr16	1555505	1555505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaacaccccgtgcctgcCagaggcagccgtctctcagc	9	19	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1555505C>T	ENST00000262319.6	+	16	2216	c.1937C>T	c.(1936-1938)cCa>cTa	p.P646L	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	646					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGTGCCTGCCAGAGGCAGCC	0.667																																					p.P646L		Atlas-SNP	.											.	TELO2	44	.	0			c.C1937T						PASS	.						33	37	36					16																	1555505		2198	4297	6495	SO:0001583	missense	9894	exon16			GCCTGCCAGAGGC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1937C>T	16.37:g.1555505C>T	ENSP00000262319:p.Pro646Leu	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	131	61	0.465649	NM_016111	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	9.403	1.078424	0.20227	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.14893	2.47	3.64	1.62	0.23740	.	0.309815	0.24107	N	0.041482	T	0.12305	0.0299	L	0.50333	1.59	0.21147	N	0.999776	B	0.26635	0.155	B	0.20384	0.029	T	0.27706	-1.0066	10	0.22706	T	0.39	-0.0024	5.4471	0.16541	0.1965:0.693:0.0:0.1106	.	646	Q9Y4R8	TELO2_HUMAN	L	169;646	ENSP00000262319:P646L	ENSP00000262319:P646L	P	+	2	0	TELO2	1495506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.334000	0.19787	0.069000	0.16605	-1.436000	0.01078	CCA	.	.	none		0.667	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1555505	C	T	1555505	3	4	23	1	0	0	0	0	1	0	0	0	15754	594	21	2	1995	2	TELO2	16	1555505	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	46382	1555505	88799248	3605	20061										
NUBP2	3483	hgsc.bcm.edu	37	chr16	1838703	1838703	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attctggacgcgacgcccgcGtgcctcccctgactaaggcc	11	17	1	1	rs11540961	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:1838703G>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000262302.9_Silent_p.A268A|NUBP2_ENST00000568706.1_Silent_p.A127A|NUBP2_ENST00000565987.1_Silent_p.A208A|NUBP2_ENST00000543305.1_Silent_p.A127A			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CGACGCCCGCGTGCCTCCCCT	0.657													G|||	144	0.028754	0.0061	0.0591	5008	,	,		15636	0.002		0.0716	False		,,,				2504	0.0215				p.A268A		Atlas-SNP	.											NUBP2,NS,carcinoma,+2,2	NUBP2	25	2	0			c.G804A						PASS	.	G		87,4307	69.8+/-107.6	2,83,2112	26	26	26		804	-9.9	0	16	dbSNP_120	26	624,7968	158.0+/-211.6	20,584,3692	no	coding-synonymous	NUBP2	NM_012225.2		22,667,5804	AA,AG,GG		7.2626,1.98,5.4751		268/272	1838703	711,12275	2197	4296	6493	SO:0001628	intergenic_variant	10101	exon7			GCCCGCGTGCCTC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838703G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	68	37	0.544118	NM_012225	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																			G|0.949;A|0.051	0.051	strong		0.657	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1838703	G	A	1838703	1	1	23	0	1	0	0	0	0	0	0	0	10716	1132	40	1		1	NUBP2	16	1838703	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	283198	1838703	88516050	3606	20062										
RNF151	146310	hgsc.bcm.edu	37	chr16	2017772	2017772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaggtgaaaaggaaaaagGttgtccacatgaataaactc	10	5	0	3	rs62617081	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2017772G>A	ENST00000569714.1	+	3	204	c.196G>A	c.(196-198)Gtt>Att	p.V66I	SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000569210.2_Intron|RPS2_ENST00000526522.1_5'Flank|RNF151_ENST00000321392.3_Missense_Mutation_p.V65I|RPS2_ENST00000343262.4_5'Flank|RPS2_ENST00000529806.1_5'Flank	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	66					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						AAGGAAAAAGGTTGTCCACAT	0.522													A|||	194	0.038738	0.0991	0.0187	5008	,	,		19997	0.0		0.0149	False		,,,				2504	0.0358				p.V66I		Atlas-SNP	.											.	RNF151	12	.	0			c.G196A						PASS	.	A	ILE/VAL	333,3523		15,303,1610	71	68	69		196	0.8	0.6	16	dbSNP_129	69	195,8085		2,191,3947	yes	missense	RNF151	NM_174903.4	29	17,494,5557	AA,AG,GG		2.3551,8.6359,4.3507	benign	66/246	2017772	528,11608	1928	4140	6068	SO:0001583	missense	146310	exon3			AAAAAGGTTGTCC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.196G>A	16.37:g.2017772G>A	ENSP00000456566:p.Val66Ile	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	48	25	0.520833	NM_174903	Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	CCDS58405.1	72	0.03296703296703297	56	0.11382113821138211	5	0.013812154696132596	0	0.0	11	0.014511873350923483	a	0.032	-1.328926	0.01298	0.086359	0.023551	ENSG00000179580	ENST00000321392	D	0.85411	-1.98	4.73	0.833	0.18875	Zinc finger, RING/FYVE/PHD-type (1);	0.346485	0.29451	N	0.012111	T	0.01454	0.0047	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	9	0.18710	T	0.47	-4.4465	0.1777	0.00120	0.3801:0.1532:0.1881:0.2787	rs62617081	66	Q2KHN1	RN151_HUMAN	I	65	ENSP00000325794:V65I	ENSP00000325794:V65I	V	+	1	0	RNF151	1957773	0.997000	0.39634	0.614000	0.29051	0.116000	0.19942	0.979000	0.29500	-0.093000	0.12396	-0.361000	0.07541	GTT	G|0.972;A|0.028	0.028	strong		0.522	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		A	2017772	G	A	2017772	3	1	23	1	0	0	0	0	1	0	0	0	13452	1261	44	2	206	2	RNF151	16	2017772	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	179069	2017772	88336981	3607	20063										
RNF151	146310	hgsc.bcm.edu	37	chr16	2018554	2018554	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggctgcacctcgcaggtGccgcgtgggaccctggcaga	17	13	0	1	rs114840677	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2018554G>T	ENST00000569714.1	+	4	374	c.366G>T	c.(364-366)gtG>gtT	p.V122V	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Silent_p.V121V	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	122					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CCTCGCAGGTGCCGCGTGGGA	0.706													G|||	191	0.038139	0.0961	0.0187	5008	,	,		15259	0.0		0.0149	False		,,,				2504	0.0368				p.V122V		Atlas-SNP	.											.	RNF151	12	.	0			c.G366T						PASS	.	G		333,3687		13,307,1690	13	14	13		366	1	0	16	dbSNP_132	13	188,8108		2,184,3962	no	coding-synonymous	RNF151	NM_174903.4		15,491,5652	TT,TG,GG		2.2662,8.2836,4.2303		122/246	2018554	521,11795	2010	4148	6158	SO:0001819	synonymous_variant	146310	exon4			GCAGGTGCCGCGT	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.366G>T	16.37:g.2018554G>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	148	77	0.52027	NM_174903	Q8NHS5	Silent	SNP	ENST00000569714.1	37	CCDS58405.1																																																																																			G|0.970;T|0.030	0.030	strong		0.706	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		T	2018554	G	T	2018554	2	4	23	1	0	0	0	0	0	0	0	1	13452	1306	46	4		4	RNF151	16	2018554	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	782	2018554	88336199	3608	20064										
RNF151	146310	hgsc.bcm.edu	37	chr16	2018578	2018578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgggaccctggcagagcaCcggcagcattgccagcaagg	15	13	0	1	rs45488492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2018578C>G	ENST00000569714.1	+	4	398	c.390C>G	c.(388-390)caC>caG	p.H130Q	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.H129Q	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	130					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						TGGCAGAGCACCGGCAGCATT	0.711													C|||	252	0.0503195	0.0991	0.0245	5008	,	,		15086	0.0		0.0239	False		,,,				2504	0.0818				p.H130Q		Atlas-SNP	.											.	RNF151	12	.	0			c.C390G						PASS	.	C	GLN/HIS	316,3654		12,292,1681	10	11	11		390	0.6	0.1	16	dbSNP_127	11	240,8028		2,236,3896	no	missense	RNF151	NM_174903.4	24	14,528,5577	GG,GC,CC		2.9028,7.9597,4.5432	probably-damaging	130/246	2018578	556,11682	1985	4134	6119	SO:0001583	missense	146310	exon4			AGAGCACCGGCAG	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.390C>G	16.37:g.2018578C>G	ENSP00000456566:p.His130Gln	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	93	50	0.537634	NM_174903	Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	CCDS58405.1	83	0.038003663003663	56	0.11382113821138211	8	0.022099447513812154	0	0.0	19	0.025065963060686015	c	11.37	1.619320	0.28801	0.079597	0.029028	ENSG00000179580	ENST00000321392	D	0.92752	-3.1	5.25	0.546	0.17196	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.141153	0.45867	D	0.000326	T	0.40272	0.1110	M	0.87180	2.865	0.39718	P	0.028576000000000046	D	0.89917	1.0	D	0.91635	0.999	T	0.75294	-0.3368	9	0.87932	D	0	-27.2691	7.805	0.29198	0.0:0.5926:0.0:0.4074	rs45488492	130	Q2KHN1	RN151_HUMAN	Q	129	ENSP00000325794:H129Q	ENSP00000325794:H129Q	H	+	3	2	RNF151	1958579	0.009000	0.17119	0.100000	0.21137	0.019000	0.09904	-0.044000	0.12023	0.235000	0.21160	0.655000	0.94253	CAC	C|0.963;G|0.037	0.037	strong		0.711	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		G	2018578	C	G	2018578	3	3	23	1	0	0	0	0	1	0	0	0	13452	506	18	4	404	4	RNF151	16	2018578	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24	2018578	88336175	3609	20065										
RNF151	146310	hgsc.bcm.edu	37	chr16	2018912	2018912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggggagcccagggccaacAtaccttgtaaataggtaaat	12	8	0	0	rs62617079	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2018912A>G	ENST00000569714.1	+	4	732	c.724A>G	c.(724-726)Ata>Gta	p.I242V	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.I241V	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	242					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CAGGGCCAACATACCTTGTAA	0.637													G|||	194	0.038738	0.0991	0.0187	5008	,	,		15844	0.0		0.0149	False		,,,				2504	0.0358				p.I242V		Atlas-SNP	.											.	RNF151	12	.	0			c.A724G						PASS	.	G	VAL/ILE	323,3613		10,303,1655	9	13	12		724	-0.8	0	16	dbSNP_129	12	185,8081		2,181,3950	yes	missense	RNF151	NM_174903.4	29	12,484,5605	GG,GA,AA		2.2381,8.2063,4.1633	benign	242/246	2018912	508,11694	1968	4133	6101	SO:0001583	missense	146310	exon4			GCCAACATACCTT	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.724A>G	16.37:g.2018912A>G	ENSP00000456566:p.Ile242Val	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	83	33	0.39759	NM_174903	Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	CCDS58405.1	72	0.03296703296703297	56	0.11382113821138211	5	0.013812154696132596	0	0.0	11	0.014511873350923483	N	0.013	-1.609973	0.00842	0.082063	0.022381	ENSG00000179580	ENST00000321392	D	0.84516	-1.86	3.61	-0.751	0.11076	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	8	0.02654	T	1	4.8474	4.768	0.13141	0.2615:0.3335:0.405:0.0	rs62617079	242	Q2KHN1	RN151_HUMAN	V	241	ENSP00000325794:I241V	ENSP00000325794:I241V	I	+	1	0	RNF151	1958913	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.301000	0.08232	-0.339000	0.08401	-0.166000	0.13349	ATA	A|0.963;G|0.037	0.037	strong		0.637	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		G	2018912	A	G	2018912	3	3	23	1	0	0	0	0	1	0	0	0	13452	217	8	2	738	2	RNF151	16	2018912	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	334	2018912	88335841	3610	20066										
TBL3	10607	hgsc.bcm.edu	37	chr16	2028402	2028402	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgggtgtgctcttgaggcgAgaggcccccgaggagctgct	17	11	1	2	rs8460	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2028402A>C	ENST00000568546.1	+	21	2351	c.2223A>C	c.(2221-2223)cgA>cgC	p.R741R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	741					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCTTGAGGCGAGAGGCCCCCG	0.677													N|||	2142	0.427716	0.6725	0.3732	5008	,	,		15492	0.3413		0.3062	False		,,,				2504	0.3497				p.R741R	Melanoma(118;616 1651 35077 38081 48633)	Atlas-SNP	.											TBL3,NS,carcinoma,0,1	TBL3	54	1	0			c.A2223C						PASS	.	G		2661,1735		815,1031,352	45	50	48		2223	-10.3	0	16	dbSNP_52	48	2595,6001		389,1817,2092	no	coding-synonymous	TBL3	NM_006453.2		1204,2848,2444	CC,CA,AA		30.1885,39.4677,40.4557		741/809	2028402	5256,7736	2198	4298	6496	SO:0001819	synonymous_variant	10607	exon21			GAGGCGAGAGGCC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.2223A>C	16.37:g.2028402A>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	43	13	0.302326	NM_006453	Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	CCDS10453.1																																																																																			A|0.592;C|0.408	0.408	strong		0.677	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		C	2028402	A	C	2028402	2	2	23	1	0	0	0	0	0	0	0	1	15640	291	11	5		5	TBL3	16	2028402	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9490	2028402	88326351	3611	20067										
NPW	283869	hgsc.bcm.edu	37	chr16	2070200	2070200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgggttcaggagctgtggGagacgcgacgcaggagctcc	18	10	1	1	rs11248906	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2070200G>C	ENST00000566435.1	+	1	655	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	NPW_ENST00000329610.4_Missense_Mutation_p.E100Q			Q8N729	NPW_HUMAN	neuropeptide W	100					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						GGAGCTGTGGGAGACGCGACG	0.756													G|||	465	0.0928514	0.0567	0.1311	5008	,	,		10039	0.0		0.2256	False		,,,				2504	0.0736				p.E100Q		Atlas-SNP	.											.	NPW	4	.	0			c.G298C						PASS	.	G	GLN/GLU	242,3078		11,220,1429	7	8	7		298	2.1	0.1	16	dbSNP_120	7	1359,6037		104,1151,2443	yes	missense	NPW	NM_001099456.2	29	115,1371,3872	CC,CG,GG		18.3748,7.2892,14.9403	benign	100/166	2070200	1601,9115	1660	3698	5358	SO:0001583	missense	283869	exon1			CTGTGGGAGACGC	AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.142G>C	16.37:g.2070200G>C	ENSP00000456974:p.Glu48Gln	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	7	6	0.857143	NM_001099456		Missense_Mutation	SNP	ENST00000566435.1	37		243	0.11126373626373626	21	0.042682926829268296	57	0.1574585635359116	0	0.0	165	0.21767810026385223	g	10.79	1.451090	0.26074	0.072892	0.183748	ENSG00000183971	ENST00000329610	T	0.50548	0.74	3.08	2.12	0.27331	.	0.406531	0.21498	U	0.073573	T	0.00039	0.0001	N	0.17082	0.46	0.58432	P	4.000000000004E-6	D	0.63046	0.992	P	0.57620	0.824	T	0.06092	-1.0846	9	0.51188	T	0.08	.	6.1772	0.20451	0.1452:0.0:0.8548:0.0	rs11248906	100	Q8N729	NPW_HUMAN	Q	100	ENSP00000330070:E100Q	ENSP00000330070:E100Q	E	+	1	0	NPW	2010201	0.004000	0.15560	0.091000	0.20842	0.107000	0.19398	0.835000	0.27531	0.652000	0.30806	0.400000	0.26472	GAG	G|0.881;C|0.119	0.119	strong		0.756	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000434312.1	NM_001099456		C	2070200	G	C	2070200	3	2	23	1	0	0	0	0	1	0	0	0	10606	1175	41	4	300	4	NPW	16	2070200	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41798	2070200	88284553	3612	20068										
TSC2	7249	hgsc.bcm.edu	37	chr16	2138269	2138269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccgctccaaccccaccgaTatctacccctccaagtggat	6	18	1	0	rs137854091|rs1748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2138269T>C	ENST00000219476.3	+	41	5832	c.5202T>C	c.(5200-5202)gaT>gaC	p.D1734D	TSC2_ENST00000382538.6_Silent_p.D1619D|TSC2_ENST00000568454.1_Silent_p.D1678D|TSC2_ENST00000353929.4_Silent_p.D1691D|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000439673.2_Silent_p.D1631D|TSC2_ENST00000401874.2_Silent_p.D1667D|TSC2_ENST00000350773.4_Silent_p.D1711D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1734	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCCCACCGATATCTACCCCT	0.652			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				C|||	1384	0.276358	0.7481	0.1988	5008	,	,		14957	0.0		0.1839	False		,,,				2504	0.0736				p.D1734D		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	TSC2	364	.	0			c.T5202C						PASS	.	C	,,	2789,1607	496.0+/-363.4	885,1019,294	96	103	101	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5202,5001,5133	3.2	1	16	dbSNP_36	101	1531,7067	745.9+/-407.3	140,1251,2908	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	1025,2270,3202	CC,CT,TT		17.8065,36.556,33.2461	,,	1734/1808,1667/1741,1711/1785	2138269	4320,8674	2198	4299	6497	SO:0001819	synonymous_variant	7249	exon41	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	CACCGATATCTAC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5202T>C	16.37:g.2138269T>C		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	118	71	0.601695	NM_000548	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																			T|0.695;G|0.000;C|0.305;A|0.000	0.305	strong		0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		C	2138269	T	C	2138269	2	2	23	1	0	0	0	0	0	0	0	1	16603	1403	49	2		2	TSC2	16	2138269	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	68069	2138269	88216484	3613	20069										
PKD1	5310	hgsc.bcm.edu	37	chr16	2140010	2140010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttggaggcgggagggctcAggctcacaccttgtccccag	15	13	2	0	rs7203729	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2140010A>G	ENST00000262304.4	-	46	12838	c.12630T>C	c.(12628-12630)ccT>ccC	p.P4210P	PKD1_ENST00000423118.1_Silent_p.P4209P|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4210					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGAGGGCTCAGGCTCACACC	0.677													G|||	1392	0.277955	0.7247	0.2104	5008	,	,		12411	0.0		0.2028	False		,,,				2504	0.0859				p.P4210P		Atlas-SNP	.											.	PKD1	184	.	0			c.T12630C						PASS	.	G	,	2652,1718		818,1016,351	23	24	24		12627,12630	-9.8	0	16	dbSNP_116	24	1629,6961		158,1313,2824	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	976,2329,3175	GG,GA,AA		18.9639,39.3135,33.0324	,	4209/4303,4210/4304	2140010	4281,8679	2185	4295	6480	SO:0001819	synonymous_variant	5310	exon46			GGGCTCAGGCTCA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12630T>C	16.37:g.2140010A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_001009944	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.688;G|0.312	0.312	strong		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2140010	A	G	2140010	2	3	23	1	0	0	0	0	0	0	0	1	11963	175	7	3		3	PKD1	16	2140010	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1741	2140010	88214743	3614	20070										
PKD1	5310	hgsc.bcm.edu	37	chr16	2140554	2140554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcaccaacagggcctggGccacgctccagagggagtcc	13	15	0	1	rs3209986	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2140554G>A	ENST00000262304.4	-	45	12384	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	PKD1_ENST00000423118.1_Missense_Mutation_p.A4058V|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4059			A -> V (in dbSNP:rs3209986). {ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:15772804, ECO:0000269|PubMed:18837007}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGGCCTGGGCCACGCTCCA	0.657													g|||	183	0.0365415	0.0015	0.0403	5008	,	,		16353	0.0		0.0895	False		,,,				2504	0.0644				p.A4059V		Atlas-SNP	.											.	PKD1	184	.	0			c.C12176T						PASS	.		VAL/ALA,VAL/ALA	63,4301		0,63,2119	29	29	29		12173,12176	1.2	0	16	dbSNP_105	29	690,7888		24,642,3623	yes	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	24,705,5742	AA,AG,GG		8.0438,1.4436,5.8183	possibly-damaging,possibly-damaging	4058/4303,4059/4304	2140554	753,12189	2182	4289	6471	SO:0001583	missense	5310	exon45			GCCTGGGCCACGC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12176C>T	16.37:g.2140554G>A	ENSP00000262304:p.Ala4059Val	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	39	21	0.538462	NM_001009944	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	89	0.04075091575091575	2	0.0040650406504065045	19	0.052486187845303865	0	0.0	68	0.08970976253298153	g	11.48	1.651367	0.29336	0.014436	0.080438	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.68624	-0.34;-0.34	4.51	1.25	0.21368	Polycystin cation channel, PKD1/PKD2 (1);	0.761139	0.12152	N	0.494771	T	0.03695	0.0105	L	0.57536	1.79	0.09310	N	1	B;B	0.15930	0.006;0.015	B;B	0.16289	0.006;0.015	T	0.03840	-1.0999	10	0.20046	T	0.44	.	4.5328	0.12013	0.1004:0.2633:0.5216:0.1147	rs3209986	4058;4059	P98161-3;P98161	.;PKD1_HUMAN	V	4059;4058;3393	ENSP00000262304:A4059V;ENSP00000399501:A4058V	ENSP00000262304:A4059V	A	-	2	0	PKD1	2080555	0.001000	0.12720	0.007000	0.13788	0.204000	0.24138	0.472000	0.22116	0.882000	0.36016	0.306000	0.20318	GCC	G|0.950;A|0.050	0.050	strong		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2140554	G	A	2140554	3	1	23	1	0	0	0	0	1	0	0	0	11963	1203	42	2	743	2	PKD1	16	2140554	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	544	2140554	88214199	3615	20071										
PKD1	5310	hgsc.bcm.edu	37	chr16	2140680	2140680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgcagtcacctaccaggaTggccagctgggcgtaggcta	14	13	1	0	rs10960	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2140680T>C	ENST00000262304.4	-	44	12341	c.12133A>G	c.(12133-12135)Atc>Gtc	p.I4045V	PKD1_ENST00000423118.1_Missense_Mutation_p.I4044V|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4045			I -> V (in dbSNP:rs10960). {ECO:0000269|PubMed:10647901, ECO:0000269|PubMed:11058904, ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:12070253, ECO:0000269|PubMed:15772804, ECO:0000269|PubMed:18837007, ECO:0000269|PubMed:9521593}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTACCAGGATGGCCAGCTGG	0.652													c|||	1262	0.251997	0.6346	0.2046	5008	,	,		15937	0.0		0.1968	False		,,,				2504	0.0849				p.I4045V		Atlas-SNP	.											.	PKD1	184	.	0			c.A12133G						PASS	.		VAL/ILE,VAL/ILE	2428,1940	521.7+/-370.6	675,1078,431	31	35	33		12130,12133	-1.5	0.1	16	dbSNP_52	33	1605,6993	722.4+/-406.4	145,1315,2839	yes	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	820,2393,3270	CC,CT,TT		18.6671,44.4139,31.1044	benign,benign	4044/4303,4045/4304	2140680	4033,8933	2184	4299	6483	SO:0001583	missense	5310	exon44			CCAGGATGGCCAG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12133A>G	16.37:g.2140680T>C	ENSP00000262304:p.Ile4045Val	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	46	46	1	NM_001009944	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	522	0.23901098901098902	295	0.5995934959349594	81	0.22375690607734808	0	0.0	146	0.19261213720316622	c	0.012	-1.659587	0.00772	0.555861	0.186671	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.69040	-0.37;-0.37	3.49	-1.55	0.08558	Polycystin cation channel, PKD1/PKD2 (1);	0.414816	0.23431	N	0.048256	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.43940	-0.9360	9	0.17369	T	0.5	.	0.9634	0.01400	0.2747:0.2029:0.1051:0.4173	rs10960;rs3209985;rs11544588;rs17134793	4044;4045	P98161-3;P98161	.;PKD1_HUMAN	V	4045;4044;3379	ENSP00000262304:I4045V;ENSP00000399501:I4044V	ENSP00000262304:I4045V	I	-	1	0	PKD1	2080681	0.001000	0.12720	0.083000	0.20561	0.108000	0.19459	-0.085000	0.11250	-0.387000	0.07809	-0.674000	0.03794	ATC	T|0.709;C|0.291	0.291	strong		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2140680	T	C	2140680	3	2	23	1	0	0	0	0	1	0	0	0	11963	1464	51	2	790	2	PKD1	16	2140680	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	126	2140680	88214073	3616	20072										
PKD1	5310	hgsc.bcm.edu	37	chr16	2144176	2144176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcccccagcctctgcagcGccagcgtctctgtcttctcc	8	20	4	0	rs34197769	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2144176G>A	ENST00000262304.4	-	35	10743	c.10535C>T	c.(10534-10536)gCg>gTg	p.A3512V	PKD1_ENST00000423118.1_Missense_Mutation_p.A3511V|RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3512			A -> V (in dbSNP:rs34197769). {ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:15772804, ECO:0000269|PubMed:18837007}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCTGCAGCGCCAGCGTCTC	0.657													g|||	332	0.0662939	0.1203	0.0562	5008	,	,		16658	0.0		0.0934	False		,,,				2504	0.0409				p.A3512V		Atlas-SNP	.											.	PKD1	184	.	0			c.C10535T						PASS	.	G	VAL/ALA,VAL/ALA	547,3845		39,469,1688	19	17	18		10532,10535	-9	0	16	dbSNP_126	18	701,7889		27,647,3621	yes	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	66,1116,5309	AA,AG,GG		8.1607,12.4545,9.6133	benign,benign	3511/4303,3512/4304	2144176	1248,11734	2196	4295	6491	SO:0001583	missense	5310	exon35			TGCAGCGCCAGCG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10535C>T	16.37:g.2144176G>A	ENSP00000262304:p.Ala3512Val	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	217	120	0.552995	NM_001009944	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	150	0.06868131868131869	57	0.11585365853658537	23	0.06353591160220995	0	0.0	70	0.09234828496042216	G	4.521	0.096772	0.08681	0.124545	0.081607	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.33216	1.42;1.42	4.66	-9.01	0.00744	.	1.060420	0.07438	N	0.896761	T	0.00144	0.0004	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.28971	0.005;0.229	B;B	0.12837	0.001;0.008	T	0.21965	-1.0230	9	0.11182	T	0.66	.	9.7513	0.40477	0.24:0.0:0.5482:0.2118	rs34197769	3511;3512	P98161-3;P98161	.;PKD1_HUMAN	V	3512;3511;2846	ENSP00000262304:A3512V;ENSP00000399501:A3511V	ENSP00000262304:A3512V	A	-	2	0	PKD1	2084177	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.663000	0.25053	-2.116000	0.00830	-2.430000	0.00215	GCG	G|0.911;A|0.089	0.089	strong		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2144176	G	A	2144176	3	1	23	1	0	0	0	0	1	0	0	0	11963	1087	38	1	2424	1	PKD1	16	2144176	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3496	2144176	88210577	3617	20073										
PKD1	5310	hgsc.bcm.edu	37	chr16	2160973	2160973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggcacatgccaccagccAggcctcgtccccgagctgca	10	19	0	0	rs116092985	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2160973A>G	ENST00000262304.4	-	15	4403	c.4195T>C	c.(4195-4197)Tgg>Cgg	p.W1399R	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.W1399R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1399	PKD 9. {ECO:0000255|PROSITE- ProRule:PRU00151}.		W -> R (in dbSNP:rs116092985). {ECO:0000269|PubMed:10364515, ECO:0000269|PubMed:10577909, ECO:0000269|PubMed:11857740, ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:12070253, ECO:0000269|PubMed:18837007}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCACCAGCCAGGCCTCGTCC	0.667													g|||	234	0.0467252	0.0484	0.0879	5008	,	,		16393	0.0		0.0944	False		,,,				2504	0.0143				p.W1399R		Atlas-SNP	.											.	PKD1	184	.	0			c.T4195C						PASS	.						38	39	39					16																	2160973		2194	4294	6488	SO:0001583	missense	5310	exon15			CCAGCCAGGCCTC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4195T>C	16.37:g.2160973A>G	ENSP00000262304:p.Trp1399Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	107	34	0.317757	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	117	0.05357142857142857	19	0.03861788617886179	35	0.09668508287292818	0	0.0	63	0.08311345646437995	g	0.018	-1.486396	0.01018	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.59224	0.28;0.28	5.58	3.39	0.38822	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	1.582370	0.03389	N	0.201594	T	0.00552	0.0018	N	0.00170	-1.935	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06058	-1.0848	10	0.25106	T	0.35	.	5.7645	0.18219	0.3067:0.0:0.5246:0.1687	.	1399;1399	P98161-3;P98161	.;PKD1_HUMAN	R	1399;1399;1080	ENSP00000262304:W1399R;ENSP00000399501:W1399R	ENSP00000262304:W1399R	W	-	1	0	PKD1	2100974	0.031000	0.19500	0.051000	0.19133	0.001000	0.01503	0.221000	0.17680	0.711000	0.32018	-0.404000	0.06349	TGG	A|0.943;G|0.057	0.057	strong		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2160973	A	G	2160973	3	3	23	1	0	0	0	0	1	0	0	0	11963	188	7	3	8844	3	PKD1	16	2160973	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	16797	2160973	88193780	3618	20074										
PKD1	5310	hgsc.bcm.edu	37	chr16	2161793	2161793	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccacagccacggagggcagGgaggcgcgcacgctcacagg					rs74331768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2161793G>A	ENST00000262304.4	-	15	3583	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.S1125S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1125	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGAGGGCAGGGAGGCGCGCA	0.677													g|||	569	0.113618	0.2897	0.111	5008	,	,		15925	0.0		0.0944	False		,,,				2504	0.0143				p.S1125S		Atlas-SNP	.											.	PKD1	184	.	0			c.C3375T						PASS	.	G	,	1046,3330		140,766,1282	20	21	21		3375,3375	-6.9	0	16	dbSNP_131	21	826,7752		53,720,3516	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	193,1486,4798	AA,AG,GG		9.6293,23.9031,14.4511	,	1125/4303,1125/4304	2161793	1872,11082	2188	4289	6477	SO:0001819	synonymous_variant	5310	exon15			GGGCAGGGAGGCG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3375C>T	16.37:g.2161793G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	48	29	0.604167	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.856;A|0.144	0.144	strong		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2161793	G	A	2161793	2	1	23	1	0	0	0	0	0	0	0	1	11963	1219	43	2		2	PKD1	16	2161793	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	820	2161793	88192960	3619	20075	408	2								
PKD1	5310	hgsc.bcm.edu	37	chr16	2161796	2161796	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagccacggagggcagggaGgcgcgcacgctcacaggcac					rs75510884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2161796G>A	ENST00000262304.4	-	15	3580	c.3372C>T	c.(3370-3372)gcC>gcT	p.A1124A	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.A1124A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1124	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCAGGGAGGCGCGCACGC	0.692													a|||	574	0.114617	0.2935	0.111	5008	,	,		15825	0.0		0.0944	False		,,,				2504	0.0143				p.A1124A		Atlas-SNP	.											PKD1,colon,carcinoma,-2,1	PKD1	184	1	0			c.C3372T						PASS	.	G	,	1061,3315		141,779,1268	20	21	21		3372,3372	-10.3	0	16	dbSNP_131	21	832,7746		55,722,3512	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	196,1501,4780	AA,AG,GG		9.6992,24.2459,14.6132	,	1124/4303,1124/4304	2161796	1893,11061	2188	4289	6477	SO:0001819	synonymous_variant	5310	exon15			CAGGGAGGCGCGC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3372C>T	16.37:g.2161796G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	51	28	0.54902	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.854;A|0.146	0.146	strong		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2161796	G	A	2161796	2	1	23	1	0	0	0	0	0	0	0	1	11963	987	35	2		2	PKD1	16	2161796	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3	2161796	88192957	3620	20076	408	2								
PKD1	5310	hgsc.bcm.edu	37	chr16	2166542	2166542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgactacctccacgggctcGtgcggggctgagaggccgtc	15	15	0	1	rs367983387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2166542G>A	ENST00000262304.4	-	8	1918	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	PKD1_ENST00000423118.1_Silent_p.H570H|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	570					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGGGCTCGTGCGGGGCTG	0.687													g|||	17	0.00339457	0.0	0.0014	5008	,	,		12902	0.001		0.0149	False		,,,				2504	0.0				p.H570H		Atlas-SNP	.											.	PKD1	184	.	0			c.C1710T						PASS	.	G	,	3,4305		0,3,2151	7	8	8		1710,1710	0.9	0	16		8	40,8422		0,40,4191	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,43,6342	AA,AG,GG		0.4727,0.0696,0.3367	,	570/4303,570/4304	2166542	43,12727	2154	4231	6385	SO:0001819	synonymous_variant	5310	exon8			GGGCTCGTGCGGG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1710C>T	16.37:g.2166542G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	60	34	0.566667	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			.	.	weak		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2166542	G	A	2166542	2	1	23	1	0	0	0	0	0	0	0	1	11963	1136	40	1		1	PKD1	16	2166542	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4746	2166542	88188211	3621	20077										
TRAF7	84231	hgsc.bcm.edu	37	chr16	2222286	2222286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttcatccactgccggcaCggctgccgggtagcgggcag	14	15	2	0	rs11547311	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2222286C>T	ENST00000326181.6	+	8	702	c.570C>T	c.(568-570)caC>caT	p.H190H		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	190					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACTGCCGGCACGGCTGCCGGG	0.647													C|||	152	0.0303514	0.0038	0.0663	5008	,	,		13645	0.0		0.0795	False		,,,				2504	0.0215				p.H190H		Atlas-SNP	.											.	TRAF7	158	.	0			c.C570T						PASS	.	C		68,4324	57.4+/-93.9	1,66,2129	36	38	37		570	-0.6	1	16	dbSNP_120	37	659,7939	164.9+/-217.2	21,617,3661	no	coding-synonymous	TRAF7	NM_032271.2		22,683,5790	TT,TC,CC		7.6646,1.5483,5.5966		190/671	2222286	727,12263	2196	4299	6495	SO:0001819	synonymous_variant	84231	exon8			CCGGCACGGCTGC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.570C>T	16.37:g.2222286C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_032271	Q9H073	Silent	SNP	ENST00000326181.6	37	CCDS10461.1																																																																																			C|0.945;T|0.055	0.055	strong		0.647	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		T	2222286	C	T	2222286	2	4	23	1	0	0	0	0	0	0	0	1	16443	535	19	1		1	TRAF7	16	2222286	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	55744	2222286	88132467	3622	20078										
C16orf79	283870	hgsc.bcm.edu	37	chr16	2260567	2260567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagccctccagccacaaCccccacagcggccagcacca	7	20	0	1	rs26857	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2260567C>T	ENST00000562360.1	-	2	135	c.136G>A	c.(136-138)Gtt>Att	p.V46I	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Missense_Mutation_p.V46I|BRICD5_ENST00000566018.1_Missense_Mutation_p.V46I			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	46			V -> I (in dbSNP:rs26857). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)		p.V46I(1)									CCAGCCACAACCCCCACAGCG	0.662													C|||	2582	0.515575	0.497	0.4841	5008	,	,		16452	0.6032		0.4702	False		,,,				2504	0.5194				p.V46I		Atlas-SNP	.											C16orf79,NS,lymphoid_neoplasm,0,1	.	.	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G136A						scavenged	.	C	ILE/VAL	2185,2205		554,1077,564	22	27	25		136	1.2	0	16	dbSNP_76	25	4030,4558		965,2100,1229	yes	missense	C16orf79	NM_182563.3	29	1519,3177,1793	TT,TC,CC		46.9259,49.7722,47.8887	benign	46/229	2260567	6215,6763	2195	4294	6489	SO:0001583	missense	283870	exon2			CCACAACCCCCAC	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.136G>A	16.37:g.2260567C>T	ENSP00000455052:p.Val46Ile	Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	92	54	0.586957	NM_182563	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	1127	0.5160256410256411	252	0.5121951219512195	168	0.46408839779005523	349	0.6101398601398601	358	0.47229551451187335	C	0.024	-1.388868	0.01185	0.497722	0.469259	ENSG00000182685	ENST00000328540	T	0.24151	1.87	5.48	1.17	0.20885	.	0.645519	0.15632	N	0.252357	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.11235	0.004;0.003	B;B	0.13407	0.002;0.009	T	0.43845	-0.9366	9	0.05525	T	0.97	-1.5005	4.4636	0.11678	0.0:0.5028:0.1556:0.3417	rs26857;rs1640774;rs4018449;rs12931243;rs17853879;rs59033835;rs26857	46;46	Q6PL45;Q6PL45-2	CP079_HUMAN;.	I	46	ENSP00000332389:V46I	ENSP00000332389:V46I	V	-	1	0	C16orf79	2200568	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.241000	0.18065	0.298000	0.22638	-0.137000	0.14449	GTT	C|0.523;T|0.477	0.477	strong		0.662	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		T	2260567	C	T	2260567	3	4	23	1	0	0	0	0	1	0	0	0	1836	507	18	2	570	2	C16orf79	16	2260567	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38281	2260567	88094186	3623	20079										
E4F1	1877	hgsc.bcm.edu	37	chr16	2285357	2285357	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgccgacaccatcaccatCgccacccccgagagcctgac	8	21	1	2	rs26840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2285357C>T	ENST00000301727.4	+	14	2187	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	E4F1_ENST00000565090.1_Silent_p.I536I|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000564139.1_3'UTR	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	713					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCATCACCATCGCCACCCCCG	0.687													C|||	1554	0.310304	0.0726	0.3184	5008	,	,		15288	0.4018		0.4046	False		,,,				2504	0.4346				p.I713I		Atlas-SNP	.											.	E4F1	53	.	0			c.C2139T						PASS	.	C		482,3904		31,420,1742	31	36	34		2139	-1.6	1	16	dbSNP_76	34	3478,5096		725,2028,1534	no	coding-synonymous	E4F1	NM_004424.3		756,2448,3276	TT,TC,CC		40.5645,10.9895,30.5556		713/785	2285357	3960,9000	2193	4287	6480	SO:0001819	synonymous_variant	1877	exon14			CACCATCGCCACC	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2139C>T	16.37:g.2285357C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	75	43	0.573333	NM_004424	A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	CCDS32370.1																																																																																			C|0.702;T|0.298	0.298	strong		0.687	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		T	2285357	C	T	2285357	2	4	23	1	0	0	0	0	0	0	0	1	4874	874	31	1		1	E4F1	16	2285357	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24790	2285357	88069396	3624	20080										
DCI	1632	hgsc.bcm.edu	37	chr16	2301520	2301520	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accccgggtttcgcacccgcGcggagcagaacgcgcgccgg	15	17	0	1	rs11541763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2301520G>C	ENST00000301729.4	-	1	95	c.48C>G	c.(46-48)cgC>cgG	p.R16R	AC009065.1_ENST00000454671.1_5'Flank|ECI1_ENST00000562238.1_Silent_p.R16R|ECI1_ENST00000570258.1_Intron	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	16					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						TCGCACCCGCGCGGAGCAGAA	0.736													g|||	336	0.0670927	0.0113	0.1009	5008	,	,		9052	0.0139		0.161	False		,,,				2504	0.0767				p.R16R		Atlas-SNP	.											ECI1,NS,carcinoma,0,1	ECI1	20	1	0			c.C48G						PASS	.		,	108,3680		2,104,1788	3	5	4		48,48	-2.7	0	16	dbSNP_134	4	1025,6725		61,903,2911	no	coding-synonymous,coding-synonymous	ECI1	NM_001178029.1,NM_001919.3	,	63,1007,4699	CC,CG,GG		13.2258,2.8511,9.8197	,	16/286,16/303	2301520	1133,10405	1894	3875	5769	SO:0001819	synonymous_variant	1632	exon1			ACCCGCGCGGAGC		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.48C>G	16.37:g.2301520G>C		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_001178029	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	ENST00000301729.4	37	CCDS10464.1																																																																																			G|0.917;C|0.083	0.083	strong		0.736	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			C	2301520	G	C	2301520	2	2	23	1	0	0	0	0	0	0	0	1	4289	1074	38	4		4	DCI	16	2301520	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16163	2301520	88053233	3625	20081										
ABCA3	21	hgsc.bcm.edu	37	chr16	2329071	2329071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacatgaccagcatctcccGgcctgtcatgtggtccagca	10	14	2	1	rs146709251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2329071G>A	ENST00000301732.5	-	29	5120	c.4420C>T	c.(4420-4422)Cgg>Tgg	p.R1474W	ABCA3_ENST00000382381.3_Missense_Mutation_p.R1416W	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1474	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGCATCTCCCGGCCTGTCATG	0.677													G|||	11	0.00219649	0.0	0.0	5008	,	,		18482	0.0		0.0109	False		,,,				2504	0.0				p.R1474W		Atlas-SNP	.											.	ABCA3	176	.	0			c.C4420T						PASS	.	G	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	56	57	57		4420	3.3	1	16	dbSNP_134	57	31,8569	22.2+/-67.0	0,31,4269	yes	missense	ABCA3	NM_001089.2	101	0,32,6466	AA,AG,GG		0.3605,0.0227,0.2462	probably-damaging	1474/1705	2329071	32,12964	2198	4300	6498	SO:0001583	missense	21	exon29			TCTCCCGGCCTGT	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4420C>T	16.37:g.2329071G>A	ENSP00000301732:p.Arg1474Trp	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	143	67	0.468531	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	G	13.04	2.118520	0.37436	2.27E-4	0.003605	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.94613	-3.47	5.35	3.32	0.38043	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.057559	0.64402	N	0.000002	D	0.92414	0.7592	M	0.76328	2.33	0.80722	D	1	P;P	0.43024	0.798;0.689	P;P	0.47573	0.55;0.466	D	0.90607	0.4549	10	0.56958	D	0.05	.	9.1349	0.36868	0.0781:0.0:0.7721:0.1498	.	1478;1474	Q4LE27;Q99758	.;ABCA3_HUMAN	W	1474;1478	ENSP00000301732:R1474W	ENSP00000301732:R1474W	R	-	1	2	ABCA3	2269072	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	2.466000	0.45084	0.580000	0.29522	0.561000	0.74099	CGG	G|0.997;A|0.003	0.003	strong		0.677	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2329071	G	A	2329071	3	1	23	1	0	0	0	0	1	0	0	0	33	1115	39	1	714	1	ABCA3	16	2329071	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27551	2329071	88025682	3626	20082										
AMDHD2	51005	hgsc.bcm.edu	37	chr16	2577943	2577943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagttgggccgtagccacgaAgtgatccgggcgctgacggc	17	11	0	2	rs182580356	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2577943A>C	ENST00000293971.6	+	5	679	c.585A>C	c.(583-585)gaA>gaC	p.E195D	ATP6C_ENST00000569317.1_Missense_Mutation_p.E148D|AMDHD2_ENST00000413459.3_Missense_Mutation_p.E195D|AMDHD2_ENST00000302956.4_Missense_Mutation_p.E195D|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	195					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTAGCCACGAAGTGATCCGGG	0.682													G|||	5	0.000998403	0.0	0.0043	5008	,	,		13543	0.0		0.002	False		,,,				2504	0.0				p.E195D		Atlas-SNP	.											.	AMDHD2	33	.	0			c.A585C						PASS	.	A	ASP/GLU,ASP/GLU	2,4356		0,2,2177	11	15	13		585,585	-1.5	0.9	16		13	22,8546		0,22,4262	yes	missense,missense	AMDHD2	NM_001145815.1,NM_015944.3	45,45	0,24,6439	CC,CA,AA		0.2568,0.0459,0.1857	benign,benign	195/595,195/440	2577943	24,12902	2179	4284	6463	SO:0001583	missense	51005	exon5			CCACGAAGTGATC	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.585A>C	16.37:g.2577943A>C	ENSP00000293971:p.Glu195Asp	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	18	10	0.555556	NM_001145815	B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37		3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	A	11.47	1.647305	0.29246	4.59E-4	0.002568	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99948	-8.65;-8.65;-8.65	5.32	-1.49	0.08718	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.163396	0.52532	D	0.000061	D	0.99420	0.9795	L	0.35414	1.06	0.80722	D	1	B;B;B	0.19706	0.038;0.002;0.002	B;B;B	0.28553	0.091;0.029;0.017	D	0.99978	1.2301	10	0.27082	T	0.32	-22.327	10.5895	0.45302	0.3942:0.0:0.6058:0.0	.	195;195;195	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	D	195	ENSP00000391596:E195D;ENSP00000307481:E195D;ENSP00000293971:E195D	ENSP00000293971:E195D	E	+	3	2	AMDHD2	2517944	1.000000	0.71417	0.855000	0.33649	0.188000	0.23474	0.819000	0.27308	-0.235000	0.09767	-0.146000	0.13790	GAA	A|0.999;C|0.001	0.001	strong		0.682	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		C	2577943	A	C	2577943	3	2	23	1	0	0	0	0	1	0	0	0	568	69	3	5	603	5	AMDHD2	16	2577943	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	248872	2577943	87776810	3627	20083										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2812647	2812647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagatcccgcagtagaagCttagttagacgtggaagatc	13	7	0	4	rs2240142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2812647C>T	ENST00000301740.8	+	11	2667	c.2118C>T	c.(2116-2118)agC>agT	p.S706S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	706	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGTAGAAGCTTAGTTAGAC	0.517													C|||	876	0.17492	0.2012	0.1311	5008	,	,		19523	0.2589		0.167	False		,,,				2504	0.092				p.S706S		Atlas-SNP	.											SRRM2,NS,lymphoid_neoplasm,0,1	SRRM2	263	1	0			c.C2118T						scavenged	.	C		837,3559	327.2+/-299.9	72,693,1433	72	74	74		2118	2	1	16	dbSNP_98	74	1348,7252	261.4+/-283.8	106,1136,3058	no	coding-synonymous	SRRM2	NM_016333.3		178,1829,4491	TT,TC,CC		15.6744,19.04,16.8129		706/2753	2812647	2185,10811	2198	4300	6498	SO:0001819	synonymous_variant	23524	exon11			TAGAAGCTTAGTT	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2118C>T	16.37:g.2812647C>T		Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																			C|0.826;T|0.174	0.174	strong		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2812647	C	T	2812647	2	4	23	1	0	0	0	0	0	0	0	1	15168	796	28	2		2	SRRM2	16	2812647	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	234704	2812647	87542106	3628	20084										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2816224	2816224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcaccagtcagccggagaCggtcaaggtccaggacttca	11	13	4	1	rs151100831	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2816224C>T	ENST00000301740.8	+	11	6244	c.5695C>T	c.(5695-5697)Cgg>Tgg	p.R1899W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1899	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCCGGAGACGGTCAAGGTC	0.592																																					p.R1899W		Atlas-SNP	.											SRRM2,colon,carcinoma,0,1	SRRM2	263	1	0			c.C5695T						scavenged	.						104	100	101					16																	2816224		2198	4300	6498	SO:0001583	missense	23524	exon11			CGGAGACGGTCAA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5695C>T	16.37:g.2816224C>T	ENSP00000301740:p.Arg1899Trp	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	122	2	0.0163934	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737664	0.03111	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26373	1.74	5.46	3.27	0.37495	.	0.000000	0.56097	D	0.000040	T	0.25717	0.0626	N	0.08118	0	0.31050	N	0.715362	D	0.89917	1.0	D	0.77557	0.99	T	0.10222	-1.0639	10	0.72032	D	0.01	-8.5524	7.212	0.25939	0.3166:0.5967:0.0:0.0867	.	1899	Q9UQ35	SRRM2_HUMAN	W	1899;1899;1151	ENSP00000301740:R1899W	ENSP00000301740:R1899W	R	+	1	2	SRRM2	2756225	0.982000	0.34865	0.993000	0.49108	0.970000	0.65996	1.597000	0.36729	1.280000	0.44463	0.650000	0.86243	CGG	C|0.999;A|0.001	.	alt		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2816224	C	T	2816224	3	4	23	1	0	0	0	0	1	0	0	0	15168	527	19	1	5733	1	SRRM2	16	2816224	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3577	2816224	87538529	3629	20085										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2816519	2816519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgaaggagatctcgatctcGcacatctccagtaactcgaa	8	13	3	1	rs138447860	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2816519G>A	ENST00000301740.8	+	11	6539	c.5990G>A	c.(5989-5991)cGc>cAc	p.R1997H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1997	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCGATCTCGCACATCTCCA	0.577													G|||	10	0.00199681	0.0	0.0043	5008	,	,		17504	0.0		0.007	False		,,,				2504	0.0				p.R1997H		Atlas-SNP	.											.	SRRM2	263	.	0			c.G5990A						PASS	.	G	HIS/ARG	3,4393	6.2+/-15.9	0,3,2195	71	75	74		5990	5.3	1	16	dbSNP_134	74	50,8550	32.3+/-84.9	0,50,4250	yes	missense	SRRM2	NM_016333.3	29	0,53,6445	AA,AG,GG		0.5814,0.0682,0.4078	probably-damaging	1997/2753	2816519	53,12943	2198	4300	6498	SO:0001583	missense	23524	exon11			GATCTCGCACATC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5990G>A	16.37:g.2816519G>A	ENSP00000301740:p.Arg1997His	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	99	48	0.484848	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	11.77	1.736455	0.30774	6.82E-4	0.005814	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.24908	1.83	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000043	T	0.23572	0.0570	N	0.08118	0	0.35761	D	0.820188	D	0.76494	0.999	D	0.69654	0.965	T	0.48198	-0.9056	10	0.62326	D	0.03	-6.3676	16.354	0.83228	0.0:0.0:1.0:0.0	.	1997	Q9UQ35	SRRM2_HUMAN	H	1997;1997;1249	ENSP00000301740:R1997H	ENSP00000301740:R1997H	R	+	2	0	SRRM2	2756520	0.967000	0.33354	0.988000	0.46212	0.988000	0.76386	3.451000	0.52964	2.466000	0.83321	0.650000	0.86243	CGC	G|0.997;A|0.003	0.003	strong		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2816519	G	A	2816519	3	1	23	1	0	0	0	0	1	0	0	0	15168	1087	38	1	6028	1	SRRM2	16	2816519	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295	2816519	87538234	3630	20086										
SRRM2	23524	hgsc.bcm.edu	37	chr16	2819196	2819196	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcatcttcctcctcctcGtcgtcttcctccccttcccc	2	23	3	0	rs150110237	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2819196G>C	ENST00000301740.8	+	12	8481	c.7932G>C	c.(7930-7932)tcG>tcC	p.S2644S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2644	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcctcgtcgtcttcct	0.597													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0				p.S2644S		Atlas-SNP	.											.	SRRM2	263	.	0			c.G7932C						PASS	.	C		24,4372	823.0+/-416.5	0,24,2174	112	112	112		7932	-3.7	0.1	16	dbSNP_134	112	5,8595	819.0+/-406.8	0,5,4295	no	coding-synonymous	SRRM2	NM_016333.3		0,29,6469	CC,CG,GG		0.0581,0.546,0.2231		2644/2753	2819196	29,12967	2198	4300	6498	SO:0001819	synonymous_variant	23524	exon12			CTCCTCGTCGTCT	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7932G>C	16.37:g.2819196G>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	77	22	0.285714	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																			G|0.998;C|0.002	0.002	strong		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2819196	G	C	2819196	2	2	23	1	0	0	0	0	0	0	0	1	15168	1132	40	4		4	SRRM2	16	2819196	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2677	2819196	87535557	3631	20087										
TCEB2	6923	hgsc.bcm.edu	37	chr16	2821525	2821525	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccgtcttggggttccctcGttgaacatgctgtcaaacca	10	12	2	1	rs4036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:2821525G>A	ENST00000409906.4	-	0	880				TCEB2_ENST00000262306.7_Missense_Mutation_p.T145M|TCEB2_ENST00000409477.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						GGGTTCCCTCGTTGAACATGC	0.577													A|||	943	0.188299	0.466	0.1138	5008	,	,		16029	0.0754		0.1044	False		,,,				2504	0.0685				p.T145M	GBM(141;5215 5962)	Atlas-SNP	.											.	TCEB2	6	.	0			c.C434T						PASS	.	A	,MET/THR	1714,2682	650.5+/-399.1	334,1046,818	117	108	111		,434	0.1	0	16	dbSNP_36	111	788,7812	783.7+/-407.6	37,714,3549	yes	utr-3,missense	TCEB2	NM_007108.3,NM_207013.2	,81	371,1760,4367	AA,AG,GG		9.1628,38.99,19.2521	,benign	,145/162	2821525	2502,10494	2198	4300	6498	SO:0001624	3_prime_UTR_variant	6923	exon5			TCCCTCGTTGAAC	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.*466C>T	16.37:g.2821525G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	162	75	0.462963	NM_207013	B7WPD3	Missense_Mutation	SNP	ENST00000409906.4	37	CCDS45387.1	384	0.17582417582417584	224	0.45528455284552843	42	0.11602209944751381	38	0.06643356643356643	80	0.10554089709762533	A	5.944	0.358230	0.11239	0.3899	0.091628	ENSG00000103363	ENST00000262306	.	.	.	2.58	0.106	0.14540	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	7	0.02654	T	1	.	2.9225	0.05773	0.4589:0.2437:0.2974:0.0	rs4036;rs57537347;rs4036	145	B7WPD3	.	M	145	.	ENSP00000262306:T145M	T	-	2	0	TCEB2	2761526	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.772000	0.04694	-0.315000	0.08703	-0.254000	0.11334	ACG	G|0.812;A|0.188	0.188	strong		0.577	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		A	2821525	G	A	2821525	1	1	23	0	1	0	0	0	0	0	0	0	15677	1145	40	1		1	TCEB2	16	2821525	3'UTR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2329	2821525	87533228	3632	20088										
MMP25	64386	hgsc.bcm.edu	37	chr16	3100095	3100095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctggtcaggcggcgtcgCcggtacgctctgagcggcag	19	12	2	1	rs10431961	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3100095C>T	ENST00000336577.4	+	3	555	c.318C>T	c.(316-318)cgC>cgT	p.R106R	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	121					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GGCGGCGTCGCCGGTACGCTC	0.701													C|||	1263	0.252196	0.1997	0.3458	5008	,	,		15092	0.1905		0.3091	False		,,,				2504	0.2618				p.R106R	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	Atlas-SNP	.											.	MMP25	35	.	0			c.C318T						PASS	.	C		1000,3394	363.1+/-316.4	121,758,1318	55	60	58		318	-2.1	0.1	16	dbSNP_119	58	2803,5793	435.3+/-358.0	460,1883,1955	no	coding-synonymous	MMP25	NM_022468.4		581,2641,3273	TT,TC,CC		32.6082,22.7583,29.2764		106/563	3100095	3803,9187	2197	4298	6495	SO:0001819	synonymous_variant	64386	exon3			GCGTCGCCGGTAC	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.318C>T	16.37:g.3100095C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_022468	Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	CCDS10492.1																																																																																			C|0.727;T|0.273	0.273	strong		0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		T	3100095	C	T	3100095	2	4	23	1	0	0	0	0	0	0	0	1	9662	726	26	2		2	MMP25	16	3100095	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	278570	3100095	87254658	3633	20089										
ZNF205	7755	hgsc.bcm.edu	37	chr16	3170188	3170188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctacgcctgcccgttgtgCggcaagagcttcagccggcg	13	16	1	1	rs12032	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3170188C>T	ENST00000382192.3	+	7	1732	c.1527C>T	c.(1525-1527)tgC>tgT	p.C509C	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.C509C|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	509					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCCGTTGTGCGGCAAGAGCT	0.706													C|||	1924	0.384185	0.2859	0.4496	5008	,	,		14798	0.4365		0.4076	False		,,,				2504	0.3926				p.C509C		Atlas-SNP	.											.	ZNF205	42	.	0			c.C1527T						PASS	.	C	,	1268,3126	424.7+/-340.5	167,934,1096	42	40	41		1527,1527	-2.4	0.9	16	dbSNP_52	41	3344,5252	484.9+/-371.5	672,2000,1626	no	coding-synonymous,coding-synonymous	ZNF205	NM_001042428.1,NM_003456.2	,	839,2934,2722	TT,TC,CC		38.9018,28.8575,35.5042	,	509/555,509/555	3170188	4612,8378	2197	4298	6495	SO:0001819	synonymous_variant	7755	exon7			GTTGTGCGGCAAG	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1527C>T	16.37:g.3170188C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	36	22	0.611111	NM_003456	A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	CCDS10494.2																																																																																			C|0.639;T|0.361	0.361	strong		0.706	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		T	3170188	C	T	3170188	2	4	23	1	0	0	0	0	0	0	0	1	17761	776	27	1		1	ZNF205	16	3170188	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	70093	3170188	87184565	3634	20090										
OR1F1	4992	hgsc.bcm.edu	37	chr16	3254418	3254418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagactcctgcctgcacaccCccatgtacttcttcctcagc	5	18	2	1	rs61731432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3254418C>G	ENST00000304646.2	+	1	172	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	58					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCTGCACACCCCCATGTACTT	0.532													C|||	62	0.0123802	0.0	0.0072	5008	,	,		21743	0.001		0.0467	False		,,,				2504	0.0092				p.P58A		Atlas-SNP	.											.	OR1F1	36	.	0			c.C172G						PASS	.	C	ALA/PRO	56,4338	55.5+/-91.7	0,56,2141	223	185	198		172	5.3	1	16	dbSNP_129	198	426,8174	131.5+/-189.3	13,400,3887	yes	missense	OR1F1	NM_012360.1	27	13,456,6028	GG,GC,CC		4.9535,1.2745,3.7094	benign	58/313	3254418	482,12512	2197	4300	6497	SO:0001583	missense	4992	exon1			CACACCCCCATGT	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.172C>G	16.37:g.3254418C>G	ENSP00000305424:p.Pro58Ala	Somatic	237	0	0		WXS	Illumina HiSeq	Phase_I	227	97	0.427313	NM_012360	O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	37	0.01694139194139194	0	0.0	1	0.0027624309392265192	0	0.0	36	0.047493403693931395	C	13.66	2.302814	0.40795	0.012745	0.049535	ENSG00000168124	ENST00000304646	T	0.02015	4.5	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.01523	0.0049	H	0.95745	3.715	0.47659	D	0.999484	B	0.24651	0.108	B	0.32342	0.144	T	0.00950	-1.1503	10	0.87932	D	0	.	16.3456	0.83132	0.0:1.0:0.0:0.0	rs61731432	58	O43749	OR1F1_HUMAN	A	58	ENSP00000305424:P58A	ENSP00000305424:P58A	P	+	1	0	OR1F1	3194419	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.559000	0.60796	2.451000	0.82905	0.385000	0.25706	CCC	C|0.968;G|0.032	0.032	strong		0.532	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			G	3254418	C	G	3254418	3	3	23	1	0	0	0	0	1	0	0	0	10956	623	22	4	174	4	OR1F1	16	3254418	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	84230	3254418	87100335	3635	20091										
OR1F1	4992	hgsc.bcm.edu	37	chr16	3254972	3254972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagccttctccacctgtggTtctcacctggctgtggttct	9	13	3	0	rs2075851	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3254972T>C	ENST00000304646.2	+	1	726	c.726T>C	c.(724-726)ggT>ggC	p.G242G	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	242					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCACCTGTGGTTCTCACCTGG	0.502													C|||	1954	0.390176	0.1203	0.5101	5008	,	,		22057	0.5685		0.4294	False		,,,				2504	0.4458				p.G242G		Atlas-SNP	.											.	OR1F1	36	.	0			c.T726C						PASS	.	C		824,3570	747.3+/-411.8	72,680,1445	207	188	194		726	-0.9	0.9	16	dbSNP_96	194	3762,4838	615.5+/-396.4	828,2106,1366	no	coding-synonymous	OR1F1	NM_012360.1		900,2786,2811	CC,CT,TT		43.7442,18.7528,35.2932		242/313	3254972	4586,8408	2197	4300	6497	SO:0001819	synonymous_variant	4992	exon1			CTGTGGTTCTCAC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.726T>C	16.37:g.3254972T>C		Somatic	226	2	0.00884956		WXS	Illumina HiSeq	Phase_I	167	167	1	NM_012360	O15246|Q6IFL5	Silent	SNP	ENST00000304646.2	37	CCDS10496.1																																																																																			T|0.618;C|0.382	0.382	strong		0.502	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			C	3254972	T	C	3254972	2	2	23	1	0	0	0	0	0	0	0	1	10956	1712	60	2		2	OR1F1	16	3254972	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	554	3254972	87099781	3636	20092										
OR2C1	4993	hgsc.bcm.edu	37	chr16	3406516	3406516	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaactggcctgtggcgacacAagtctcaaccaggctgtgct	11	12	1	0	rs11643487	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3406516A>G	ENST00000304936.2	+	1	628	c.576A>G	c.(574-576)acA>acG	p.T192T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	192					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGGCGACACAAGTCTCAACC	0.557													G|||	1587	0.316893	0.4357	0.2882	5008	,	,		20982	0.1736		0.336	False		,,,				2504	0.3047				p.T192T		Atlas-SNP	.											.	OR2C1	38	.	0			c.A576G						PASS	.			1886,2508	629.1+/-395.2	395,1096,706	126	102	110		576	-9.7	0	16	dbSNP_120	110	2915,5685	670.0+/-402.7	485,1945,1870	no	coding-synonymous	OR2C1	NM_012368.2		880,3041,2576	GG,GA,AA		33.8953,42.9222,36.9478		192/313	3406516	4801,8193	2197	4300	6497	SO:0001819	synonymous_variant	4993	exon1			CGACACAAGTCTC	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.576A>G	16.37:g.3406516A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	107	105	0.981308	NM_012368	A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	CCDS10502.1																																																																																			A|0.659;G|0.341	0.341	strong		0.557	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			G	3406516	A	G	3406516	2	3	23	1	0	0	0	0	0	0	0	1	10992	117	5	2		2	OR2C1	16	3406516	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	151544	3406516	86948237	3637	20093										
OR2C1	4993	hgsc.bcm.edu	37	chr16	3406626	3406626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggcagtgctgaaaatccGctctgcagaggggaggcgaa	15	9	2	2	rs11648783	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3406626G>A	ENST00000304936.2	+	1	738	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	229			R -> H (in dbSNP:rs11648783). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9847080}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGAAAATCCGCTCTGCAGAG	0.547													G|||	1265	0.252596	0.3389	0.2421	5008	,	,		21776	0.1429		0.2614	False		,,,				2504	0.2474				p.R229H		Atlas-SNP	.											.	OR2C1	38	.	0			c.G686A						PASS	.		HIS/ARG	1522,2872	481.7+/-359.2	249,1024,924	123	103	110		686	-5.3	0.3	16	dbSNP_120	110	2366,6234	395.9+/-345.2	330,1706,2264	no	missense	OR2C1	NM_012368.2	29	579,2730,3188	AA,AG,GG		27.5116,34.6381,29.9215	benign	229/313	3406626	3888,9106	2197	4300	6497	SO:0001583	missense	4993	exon1			AAATCCGCTCTGC	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.686G>A	16.37:g.3406626G>A	ENSP00000307726:p.Arg229His	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	107	50	0.46729	NM_012368	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	CCDS10502.1	563	0.25778388278388276	184	0.37398373983739835	92	0.2541436464088398	81	0.14160839160839161	206	0.2717678100263852	g	4.555	0.103149	0.08731	0.346381	0.275116	ENSG00000168158	ENST00000304936	T	0.39229	1.09	5.0	-5.29	0.02747	GPCR, rhodopsin-like superfamily (1);	0.596862	0.14073	N	0.343234	T	0.00012	0.0000	N	0.13003	0.285	0.80722	P	0.0	B	0.14012	0.009	B	0.10450	0.005	T	0.41538	-0.9503	9	0.62326	D	0.03	.	2.6261	0.04930	0.3111:0.2577:0.3384:0.0928	rs11648783;rs56545253;rs59091664;rs11648783	229	O95371	OR2C1_HUMAN	H	229	ENSP00000307726:R229H	ENSP00000307726:R229H	R	+	2	0	OR2C1	3346627	0.000000	0.05858	0.334000	0.25495	0.003000	0.03518	-0.888000	0.04148	-0.962000	0.03604	-2.321000	0.00252	CGC	G|0.723;A|0.277	0.277	strong		0.547	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			A	3406626	G	A	3406626	3	1	23	1	0	0	0	0	1	0	0	0	10992	1087	38	1	688	1	OR2C1	16	3406626	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	110	3406626	86948127	3638	20094										
DNASE1	1773	hgsc.bcm.edu	37	chr16	3707747	3707747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttgcagggatgctgctccGaggcgccgttgttcccgact	15	12	0	0	rs1053874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3707747G>A	ENST00000246949.5	+	8	3940	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	DNASE1_ENST00000414110.2_Missense_Mutation_p.R127Q|DNASE1_ENST00000407479.1_Missense_Mutation_p.R244Q	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	244			R -> Q (in allele DNASE1*1; dbSNP:rs1053874). {ECO:0000269|PubMed:7762978}.		apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		ATGCTGCTCCGAGGCGCCGTT	0.567													A|||	2475	0.494209	0.8177	0.3473	5008	,	,		20043	0.4286		0.3032	False		,,,				2504	0.4254				p.R244Q		Atlas-SNP	.											.	DNASE1	16	.	0			c.G731A	GRCh37	CM042698	DNASE1	M	rs1053874	PASS	.	A	GLN/ARG	3251,1143	405.3+/-333.4	1206,839,152	79	67	71	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	731	4.5	0.3	16	dbSNP_86	71	2606,5994	688.3+/-404.3	405,1796,2099	yes	missense	DNASE1	NM_005223.3	43	1611,2635,2251	AA,AG,GG		30.3023,26.0127,45.0746	benign	244/283	3707747	5857,7137	2197	4300	6497	SO:0001583	missense	1773	exon8			TGCTCCGAGGCGC		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.731G>A	16.37:g.3707747G>A	ENSP00000246949:p.Arg244Gln	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	154	154	1	NM_005223	B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	CCDS10507.1	1062	0.48626373626373626	414	0.8414634146341463	141	0.38950276243093923	273	0.4772727272727273	234	0.3087071240105541	A	5.843	0.339737	0.11069	0.739873	0.303023	ENSG00000213918	ENST00000407479;ENST00000246949;ENST00000414110	T;T;T	0.32272	1.46;1.46;1.46	4.5	4.5	0.54988	Endonuclease/exonuclease/phosphatase (2);	0.225509	0.42172	N	0.000756	T	0.00012	0.0000	N	0.01424	-0.875	0.28650	P	0.9067025	B	0.12630	0.006	B	0.04013	0.001	T	0.32613	-0.9900	9	0.07813	T	0.8	-9.4549	5.216	0.15342	0.7586:0.0:0.0848:0.1566	rs1053874;rs1801110;rs3169473;rs17255932;rs17418314;rs59499103;rs1053874	244	P24855	DNAS1_HUMAN	Q	244;244;127	ENSP00000385905:R244Q;ENSP00000246949:R244Q;ENSP00000416699:R127Q	ENSP00000246949:R244Q	R	+	2	0	DNASE1	3647748	0.000000	0.05858	0.315000	0.25238	0.004000	0.04260	0.033000	0.13754	0.875000	0.35847	-0.361000	0.07541	CGA	G|0.520;A|0.480	0.480	strong		0.567	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			A	3707747	G	A	3707747	3	1	23	1	0	0	0	0	1	0	0	0	4660	1058	37	1	757	1	DNASE1	16	3707747	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	301121	3707747	86647006	3639	20095										
TRAP1	10131	hgsc.bcm.edu	37	chr16	3708193	3708193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaccatggccctagggtcGtcaacaagtccagcagcaat	9	15	1	0	rs1059857	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3708193G>A	ENST00000246957.5	-	18	2140	c.2052C>T	c.(2050-2052)gaC>gaT	p.D684D	TRAP1_ENST00000538171.1_Silent_p.D631D|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000575671.1_Silent_p.D475D	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	684					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCTAGGGTCGTCAACAAGTC	0.527													G|||	475	0.0948482	0.1989	0.0418	5008	,	,		18260	0.0228		0.0437	False		,,,				2504	0.1186				p.D684D		Atlas-SNP	.											.	TRAP1	53	.	0			c.C2052T						PASS	.	G		818,3576	325.0+/-298.9	74,670,1453	61	59	59		2052	-10.8	0	16	dbSNP_86	59	358,8242	120.6+/-179.8	6,346,3948	no	coding-synonymous	TRAP1	NM_016292.2		80,1016,5401	AA,AG,GG		4.1628,18.6163,9.0503		684/705	3708193	1176,11818	2197	4300	6497	SO:0001819	synonymous_variant	10131	exon18			AGGGTCGTCAACA	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.2052C>T	16.37:g.3708193G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	95	42	0.442105	NM_016292	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	CCDS10508.1																																																																																			G|0.912;A|0.088	0.088	strong		0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		A	3708193	G	A	3708193	2	1	23	1	0	0	0	0	0	0	0	1	16452	1136	40	1		1	TRAP1	16	3708193	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	446	3708193	86646560	3640	20096										
TRAP1	10131	hgsc.bcm.edu	37	chr16	3724365	3724365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggcacgtagaagatgctgCggatgttgagcggtgcgtcc	17	9	0	3	rs145715008		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3724365C>T	ENST00000246957.5	-	9	1107	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R287H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R131H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	340					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAAGATGCTGCGGATGTTGAG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20813	0.001		0.0	False		,,,				2504	0.0				p.R340H		Atlas-SNP	.											TRAP1,colon,carcinoma,-1,1	TRAP1	53	1	0			c.G1019A						PASS	.	C	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	160	102	122		1019	5.8	1	16	dbSNP_134	122	9,8591	7.1+/-27.0	0,9,4291	yes	missense	TRAP1	NM_016292.2	29	0,11,6486	TT,TC,CC		0.1047,0.0455,0.0847	possibly-damaging	340/705	3724365	11,12983	2197	4300	6497	SO:0001583	missense	10131	exon9			ATGCTGCGGATGT	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1019G>A	16.37:g.3724365C>T	ENSP00000246957:p.Arg340His	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	163	90	0.552147	NM_016292	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	CCDS10508.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.3	4.131985	0.77662	4.55E-4	0.001047	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.12569	2.67;2.67	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	L	0.49256	1.55	0.80722	D	1	P;P	0.36944	0.518;0.574	B;B	0.36922	0.152;0.236	T	0.00768	-1.1574	10	0.87932	D	0	-32.3858	19.0936	0.93240	0.0:1.0:0.0:0.0	.	287;340	F5H897;Q12931	.;TRAP1_HUMAN	H	340;287	ENSP00000246957:R340H;ENSP00000442070:R287H	ENSP00000246957:R340H	R	-	2	0	TRAP1	3664366	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC	C|0.999;T|0.001	0.001	strong		0.602	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		T	3724365	C	T	3724365	3	4	23	1	0	0	0	0	1	0	0	0	16452	768	27	1	1135	1	TRAP1	16	3724365	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16172	3724365	86630388	3641	20097										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3808872	3808872	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactggaattccgaggagctGgggatctacaggctgccgga	15	9	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:3808872G>A	ENST00000262367.5	-	17	4161	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1080*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1118	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGAGGAGCTGGGGATCTACA	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.Q1118X		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.C3352T						PASS	.						83	81	81					16																	3808872		2197	4300	6497	SO:0001587	stop_gained	1387	exon17			GGAGCTGGGGATC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3352C>T	16.37:g.3808872G>A	ENSP00000262367:p.Gln1118*	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	141	44	0.312057	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	49	15.347356	0.99831	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-9.7097	18.7675	0.91879	0.0:0.0:1.0:0.0	.	.	.	.	X	1118;1148;1080	.	ENSP00000262367:Q1118X	Q	-	1	0	CREBBP	3748873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.034000	0.64152	2.499000	0.84300	0.561000	0.74099	CAG	.	.	none		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3808872	G	A	3808872	4	1	23	1	0	0	0	0	0	1	0	0	3861	1357	47	2	4036	2	CREBBP	16	3808872	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	84507	3808872	86545881	3642	20098										
TFAP4	7023	hgsc.bcm.edu	37	chr16	4310468	4310468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctcacctgggtccgcagCtgctgctgttcccgctccag	11	17	1	0	rs251732	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4310468C>G	ENST00000204517.6	-	5	982	c.654G>C	c.(652-654)caG>caC	p.Q218H		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	218	Gln-rich.		Q -> H (in dbSNP:rs251732). {ECO:0000269|PubMed:15616553}.		cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGGTccgcagctgctgctgtt	0.647													G|||	3369	0.672724	0.8336	0.6369	5008	,	,		13091	0.7589		0.506	False		,,,				2504	0.5634				p.Q218H		Atlas-SNP	.											TFAP4,colon,carcinoma,0,1	TFAP4	31	1	0			c.G654C						scavenged	.	G	HIS/GLN	3457,937		1372,713,112	21	21	21		654	2.1	1	16	dbSNP_79	21	4293,4307		1081,2131,1088	no	missense	TFAP4	NM_003223.2	24	2453,2844,1200	GG,GC,CC		49.9186,21.3245,40.3571	benign	218/339	4310468	7750,5244	2197	4300	6497	SO:0001583	missense	7023	exon5			CCGCAGCTGCTGC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.654G>C	16.37:g.4310468C>G	ENSP00000204517:p.Gln218His	Somatic	205	1	0.00487805		WXS	Illumina HiSeq	Phase_I	187	82	0.438503	NM_003223	O60409	Missense_Mutation	SNP	ENST00000204517.6	37	CCDS10510.1	1457	0.6671245421245421	405	0.823170731707317	223	0.6160220994475138	440	0.7692307692307693	389	0.5131926121372031	G	11.24	1.579246	0.28180	0.786755	0.499186	ENSG00000090447	ENST00000204517	D	0.98717	-5.09	4.26	2.12	0.27331	.	0.467927	0.21148	N	0.079367	T	0.00012	0.0000	N	0.02011	-0.69	0.54753	P	1.0999999999983245E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	9	0.14252	T	0.57	.	3.1819	0.06587	0.1617:0.1383:0.5578:0.1423	rs251732;rs1126923;rs61656003;rs251732	218	Q01664	TFAP4_HUMAN	H	218	ENSP00000204517:Q218H	ENSP00000204517:Q218H	Q	-	3	2	TFAP4	4250469	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.599000	0.24089	0.552000	0.29026	-0.986000	0.02555	CAG	C|0.381;G|0.619	0.619	strong		0.647	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		G	4310468	C	G	4310468	3	3	23	1	0	0	0	0	1	0	0	0	15789	796	28	4	374	4	TFAP4	16	4310468	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	501596	4310468	86044285	3643	20099										
GLIS2	84662	hgsc.bcm.edu	37	chr16	4382351	4382351	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgggcggcaagagagaagCgggagaggacgctgggtgtg	21	7	0	3	rs34543395	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4382351C>A	ENST00000262366.3	+	3	891	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.R24R			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	24					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|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)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAGAGAGAAGCGGGAGAGGAC	0.682													C|||	8	0.00159744	0.0	0.0014	5008	,	,		17887	0.0		0.007	False		,,,				2504	0.0				p.R24R		Atlas-SNP	.											.	GLIS2	29	.	0			c.C70A						PASS	.	C		12,4380	17.9+/-39.9	0,12,2184	38	40	39		70	2	1	16	dbSNP_126	39	133,8465	67.0+/-129.4	3,127,4169	no	coding-synonymous	GLIS2	NM_032575.2		3,139,6353	AA,AC,CC		1.5469,0.2732,1.1162		24/525	4382351	145,12845	2196	4299	6495	SO:0001819	synonymous_variant	84662	exon1			GAGAAGCGGGAGA	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.70C>A	16.37:g.4382351C>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_032575	B3KX84	Silent	SNP	ENST00000262366.3	37	CCDS10511.1																																																																																			C|0.993;A|0.007	0.007	strong		0.682	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		A	4382351	C	A	4382351	2	1	23	1	0	0	0	0	0	0	0	1	6446	759	27	4		4	GLIS2	16	4382351	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	71883	4382351	85972402	3644	20100										
HMOX2	3163	hgsc.bcm.edu	37	chr16	4556911	4556911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagaatggctgacctctcGgagctcctgaaggaagggac	13	11	1	3	rs25685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4556911G>A	ENST00000570646.1	+	3	707	c.102G>A	c.(100-102)tcG>tcA	p.S34S	HMOX2_ENST00000219700.6_Silent_p.S34S|HMOX2_ENST00000398595.3_Silent_p.S34S|HMOX2_ENST00000406590.2_Silent_p.S34S|HMOX2_ENST00000575120.1_Silent_p.S5S|HMOX2_ENST00000414777.1_Silent_p.S34S|HMOX2_ENST00000458134.3_Silent_p.S34S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	34					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CTGACCTCTCGGAGCTCCTGA	0.493											OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	411	0.0820687	0.2103	0.1081	5008	,	,		19674	0.003		0.0457	False		,,,				2504	0.0092				p.S34S		Atlas-SNP	.											.	HMOX2	22	.	0			c.G102A						PASS	.	G	,,,	718,3676	297.3+/-284.7	54,610,1533	142	151	148		102,102,102,102	-8.3	0.9	16	dbSNP_72	148	315,8285	111.4+/-171.7	3,309,3988	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HMOX2	NM_001127204.1,NM_001127205.1,NM_001127206.1,NM_002134.3	,,,	57,919,5521	AA,AG,GG		3.6628,16.3405,7.9498	,,,	34/317,34/317,34/317,34/317	4556911	1033,11961	2197	4300	6497	SO:0001819	synonymous_variant	3163	exon3			CCTCTCGGAGCTC		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.102G>A	16.37:g.4556911G>A		Somatic	117	0	0	619	WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_001127205	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	CCDS10517.1																																																																																			G|0.921;A|0.079	0.079	strong		0.493	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			A	4556911	G	A	4556911	2	1	23	1	0	0	0	0	0	0	0	1	7244	1103	39	1		1	HMOX2	16	4556911	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	174560	4556911	85797842	3645	20101										
ANKS3	124401	hgsc.bcm.edu	37	chr16	4776685	4776685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttggcattggctccactgtCcaagaggaacctgaccatgt	11	11	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4776685C>T	ENST00000304283.4	-	5	760	c.466G>A	c.(466-468)Gac>Aac	p.D156N	ANKS3_ENST00000446014.2_Missense_Mutation_p.D27N|ANKS3_ENST00000585773.1_Missense_Mutation_p.D83N|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	156										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCTCCACTGTCCAAGAGGAAC	0.567																																					p.D156N		Atlas-SNP	.											.	ANKS3	44	.	0			c.G466A						PASS	.						95	78	84					16																	4776685		2197	4300	6497	SO:0001583	missense	124401	exon5			CACTGTCCAAGAG	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.466G>A	16.37:g.4776685C>T	ENSP00000304586:p.Asp156Asn	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	102	5	0.0490196	NM_133450	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496348	0.85069	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65732	-0.12;-0.17	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.136125	0.64402	D	0.000003	T	0.66317	0.2777	L	0.41573	1.285	0.80722	D	1	P	0.47253	0.892	P	0.51055	0.657	T	0.68416	-0.5414	10	0.62326	D	0.03	-17.1943	18.4258	0.90608	0.0:1.0:0.0:0.0	.	156	Q6ZW76	ANKS3_HUMAN	N	156;27	ENSP00000304586:D156N;ENSP00000406796:D27N	ENSP00000304586:D156N	D	-	1	0	ANKS3	4716686	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.445000	0.80570	2.675000	0.91044	0.555000	0.69702	GAC	.	.	none		0.567	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		T	4776685	C	T	4776685	3	4	23	1	0	0	0	0	1	0	0	0	690	855	30	2	1556	2	ANKS3	16	4776685	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	219774	4776685	85578068	3646	20102										
UBN1	29855	hgsc.bcm.edu	37	chr16	4925291	4925291	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagggaaaaaaatgcctgtTtcccagaagttgactctggt	11	8	1	2	rs17137364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4925291T>G	ENST00000396658.4	+	14	3583	c.2880T>G	c.(2878-2880)gtT>gtG	p.V960V	UBN1_ENST00000545171.1_Silent_p.V960V|UBN1_ENST00000262376.6_Silent_p.V960V|UBN1_ENST00000590769.1_Silent_p.V960V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	960	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAATGCCTGTTTCCCAGAAGT	0.597													T|||	332	0.0662939	0.1467	0.0331	5008	,	,		18402	0.006		0.0785	False		,,,				2504	0.0307				p.V960V		Atlas-SNP	.											.	UBN1	88	.	0			c.T2880G						PASS	.	T	,	543,3851	242.5+/-252.5	26,491,1680	52	58	56		2880,2880	-6.2	0.1	16	dbSNP_123	56	664,7936	166.1+/-218.1	29,606,3665	no	coding-synonymous,coding-synonymous	UBN1	NM_001079514.1,NM_016936.3	,	55,1097,5345	GG,GT,TT		7.7209,12.3578,9.2889	,	960/1135,960/1135	4925291	1207,11787	2197	4300	6497	SO:0001819	synonymous_variant	29855	exon15			GCCTGTTTCCCAG	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2880T>G	16.37:g.4925291T>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	87	45	0.517241	NM_001079514	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	CCDS10525.1																																																																																			T|0.912;G|0.088	0.088	strong		0.597	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		G	4925291	T	G	4925291	2	3	23	1	0	0	0	0	0	0	0	1	16889	1828	64	5		5	UBN1	16	4925291	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	148606	4925291	85429462	3647	20103										
PPL	5493	hgsc.bcm.edu	37	chr16	4933907	4933907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgccatgttgatttccgaTtggagccttcgggtctccag	12	11	1	1	rs17137389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4933907T>C	ENST00000345988.2	-	22	4838	c.4749A>G	c.(4747-4749)caA>caG	p.Q1583Q	PPL_ENST00000590782.2_Silent_p.Q1581Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1583					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGATTTCCGATTGGAGCCTTC	0.532													T|||	351	0.0700879	0.1604	0.036	5008	,	,		19681	0.006		0.0775	False		,,,				2504	0.0307				p.Q1583Q		Atlas-SNP	.											.	PPL	168	.	0			c.A4749G						PASS	.	T		668,3726	281.9+/-276.2	42,584,1571	120	119	119		4749	-3.7	0.7	16	dbSNP_123	119	665,7935	167.1+/-218.9	29,607,3664	no	coding-synonymous	PPL	NM_002705.4		71,1191,5235	CC,CT,TT		7.7326,15.2025,10.2586		1583/1757	4933907	1333,11661	2197	4300	6497	SO:0001819	synonymous_variant	5493	exon22			TTCCGATTGGAGC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4749A>G	16.37:g.4933907T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	164	90	0.548781	NM_002705	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																			T|0.902;C|0.098	0.098	strong		0.532	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		C	4933907	T	C	4933907	2	2	23	1	0	0	0	0	0	0	0	1	12334	1490	52	2		2	PPL	16	4933907	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8616	4933907	85420846	3648	20104										
PPL	5493	hgsc.bcm.edu	37	chr16	4935985	4935985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctgatcttccacgcctCctccactccagagtccggcc	6	20	1	2	rs35869286	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:4935985C>G	ENST00000345988.2	-	22	2760	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	PPL_ENST00000590782.2_Missense_Mutation_p.E889Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	891			E -> Q (in dbSNP:rs35869286).		keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E891K(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTCCACGCCTCCTCCACTCCA	0.557													C|||	164	0.0327476	0.0303	0.0245	5008	,	,		19112	0.006		0.0706	False		,,,				2504	0.0307				p.E891Q		Atlas-SNP	.											PPL,NS,carcinoma,0,1	PPL	168	1	1	Substitution - Missense(1)	lung(1)	c.G2671C						PASS	.	C	GLN/GLU	191,4203	116.7+/-154.6	5,181,2011	71	74	73		2671	3.8	0.1	16	dbSNP_126	73	638,7960	153.4+/-207.8	27,584,3688	yes	missense	PPL	NM_002705.4	29	32,765,5699	GG,GC,CC		7.4203,4.3468,6.3808	benign	891/1757	4935985	829,12163	2197	4299	6496	SO:0001583	missense	5493	exon22			ACGCCTCCTCCAC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2671G>C	16.37:g.4935985C>G	ENSP00000340510:p.Glu891Gln	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	94	51	0.542553	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	78	0.03571428571428571	10	0.02032520325203252	7	0.019337016574585635	3	0.005244755244755245	58	0.07651715039577836	C	7.631	0.678938	0.14841	0.043468	0.074203	ENSG00000118898	ENST00000345988	T	0.58652	0.32	4.71	3.75	0.43078	.	0.060179	0.64402	N	0.000004	T	0.07593	0.0191	M	0.74881	2.28	0.40865	D	0.983862	B	0.16396	0.017	B	0.17433	0.018	T	0.37979	-0.9682	10	0.62326	D	0.03	.	17.7271	0.88368	0.0:0.8745:0.1255:0.0	rs35869286	891	O60437	PEPL_HUMAN	Q	891	ENSP00000340510:E891Q	ENSP00000340510:E891Q	E	-	1	0	PPL	4875986	1.000000	0.71417	0.050000	0.19076	0.032000	0.12392	6.068000	0.71201	0.430000	0.26230	-2.039000	0.00418	GAG	C|0.942;G|0.058	0.058	strong		0.557	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		G	4935985	C	G	4935985	3	3	23	1	0	0	0	0	1	0	0	0	12334	864	30	4	2603	4	PPL	16	4935985	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2078	4935985	85418768	3649	20105										
ABAT	18	hgsc.bcm.edu	37	chr16	8844389	8844389	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tattcccagatctcctctgtCcccataggtaagagctggga	9	12	2	2	rs2229157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:8844389C>T	ENST00000396600.2	+	5	1247	c.309C>T	c.(307-309)gtC>gtT	p.V103V	ABAT_ENST00000425191.2_Silent_p.V103V|ABAT_ENST00000567812.1_Silent_p.V118V|ABAT_ENST00000569156.1_Silent_p.V103V|ABAT_ENST00000268251.8_Silent_p.V103V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	103					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TCTCCTCTGTCCCCATAGGTA	0.478													C|||	525	0.104832	0.0303	0.0994	5008	,	,		20366	0.1756		0.1034	False		,,,				2504	0.138				p.V103V		Atlas-SNP	.											.	ABAT	46	.	0			c.C309T						PASS	.	C	,,	200,4194	122.5+/-159.9	5,190,2002	173	158	163		309,309,309	-1.8	1	16	dbSNP_127	163	968,7632	206.3+/-248.5	51,866,3383	no	coding-synonymous,coding-synonymous,coding-synonymous	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	,,	56,1056,5385	TT,TC,CC		11.2558,4.5517,8.9888	,,	103/501,103/501,103/501	8844389	1168,11826	2197	4300	6497	SO:0001819	synonymous_variant	18	exon5			CTCTGTCCCCATA	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.309C>T	16.37:g.8844389C>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	150	76	0.506667	NM_001127448	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	CCDS10534.1																																																																																			C|0.901;T|0.099	0.099	strong		0.478	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		T	8844389	C	T	8844389	2	4	23	1	0	0	0	0	0	0	0	1	27	842	30	2		2	ABAT	16	8844389	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3908404	8844389	81510364	3650	20106										
ATF7IP2	80063	hgsc.bcm.edu	37	chr16	10524657	10524659	+	In_Frame_Del	DEL	GAC	GAC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcctagtgtcataactagGacgactgaaataaccaaatg					rs56252625|rs75627261|rs571414967|rs113642662	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GAC	GAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10524657_10524659delGAC	ENST00000396560.2	+	3	407_409	c.180_182delGAC	c.(178-183)aggacg>agg	p.T62del	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_In_Frame_Del_p.T62del|ATF7IP2_ENST00000324570.5_In_Frame_Del_p.T62del|ATF7IP2_ENST00000356427.2_In_Frame_Del_p.T62del	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TCATAACTAGGACGACTGAAATA	0.374														3021	0.603235	0.5628	0.572	5008	,	,		18516	0.6994		0.5686	False		,,,				2504	0.6166				p.60_61del		Pindel,Atlas-Indel	.											.	ATF7IP2	40	.	0			c.179_181del						PASS	.			2445,1819		712,1021,399							0.1		dbSNP_131	58	4927,3327		1439,2049,639	no	coding	ATF7IP2	NM_024997.2		2151,3070,1038	A1A1,A1R,RR		40.3077,42.6595,41.1088				7372,5146				SO:0001651	inframe_deletion	80063	exon4			.	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.180_182delGAC	16.37:g.10524660_10524662delGAC	ENSP00000379808:p.Thr62del	Somatic	278	.	.		WXS	Illumina HiSeq	Phase_I	202	98	0.485	NM_001256160	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	In_Frame_Del	DEL	ENST00000396560.2	37	CCDS10540.1																																																																																			GAC|0.396;-|0.604	0.604	strong		0.374	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		-	10524659	GAC	-	10524657	7	5	23	1	0	1	0	1	0	0	0	0	1088	1165	41	0	182	0	ATF7IP2	16	10524657	In_Frame_Del	DEL	GAC	TCGA-GR-7353-01A-11D-2210-10	1680268	10524657	79830096	3651	20107										
ATF7IP2	80063	hgsc.bcm.edu	37	chr16	10575824	10575824	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaaacgggttttcagaccCaatggcattgccctgacttg	11	10	1	3	rs1970817	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10575824C>A	ENST00000396560.2	+	12	1994	c.1767C>A	c.(1765-1767)ccC>ccA	p.P589P	ATF7IP2_ENST00000543967.1_Silent_p.P133P|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Silent_p.P589P	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	589	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTTTCAGACCCAATGGCATTG	0.463													C|||	2334	0.466054	0.2958	0.5173	5008	,	,		17249	0.5704		0.5179	False		,,,				2504	0.499				p.P589P		Atlas-SNP	.											ATF7IP2_ENST00000396560,NS,adenoma,0,1	ATF7IP2	40	1	0			c.C1767A						PASS	.	C		1458,2936	470.2+/-355.7	247,964,986	106	104	104		1767	2.7	0.5	16	dbSNP_92	104	4484,4116	590.1+/-392.6	1132,2220,948	no	coding-synonymous	ATF7IP2	NM_024997.2		1379,3184,1934	AA,AC,CC		47.8605,33.1816,45.7288		589/683	10575824	5942,7052	2197	4300	6497	SO:0001819	synonymous_variant	80063	exon12			CAGACCCAATGGC	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1767C>A	16.37:g.10575824C>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	97	97	1	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	CCDS10540.1																																																																																			C|0.529;A|0.471	0.471	strong		0.463	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		A	10575824	C	A	10575824	2	1	23	1	0	0	0	0	0	0	0	1	1088	581	21	4		4	ATF7IP2	16	10575824	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	51167	10575824	79778929	3652	20108										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10769958	10769958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccgcctcctcccgcagcTggatggagttggcccgcatg	13	16	0	0	rs2719710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10769958T>C	ENST00000283025.2	-	5	1015	c.944A>G	c.(943-945)cAg>cGg	p.Q315R		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	315			Q -> R (in dbSNP:rs2719710).			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						CTCCCGCAGCTGGATGGAGTT	0.562													C|||	3176	0.634185	0.6944	0.6009	5008	,	,		21094	0.8135		0.3588	False		,,,				2504	0.6748				p.Q315R		Atlas-SNP	.											.	TEKT5	66	.	0			c.A944G						PASS	.	C	ARG/GLN	2872,1522	482.4+/-359.4	936,1000,261	127	109	115		944	2.7	1	16	dbSNP_100	115	3382,5218	641.8+/-399.7	664,2054,1582	yes	missense	TEKT5	NM_144674.1	43	1600,3054,1843	CC,CT,TT		39.3256,34.6381,48.1299	benign	315/486	10769958	6254,6740	2197	4300	6497	SO:0001583	missense	146279	exon5			CGCAGCTGGATGG		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.944A>G	16.37:g.10769958T>C	ENSP00000283025:p.Gln315Arg	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	108	47	0.435185	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	1277	0.5847069597069597	330	0.6707317073170732	193	0.5331491712707183	467	0.8164335664335665	287	0.3786279683377309	C	10.05	1.245159	0.22796	0.653619	0.393256	ENSG00000153060	ENST00000283025	T	0.02525	4.26	4.68	2.67	0.31697	.	0.145954	0.33691	N	0.004648	T	0.00012	0.0000	N	0.04373	-0.215	0.80722	P	0.0	B	0.06786	0.001	B	0.13407	0.009	T	0.04191	-1.0970	9	0.19147	T	0.46	-30.7844	6.4945	0.22133	0.0:0.5605:0.0:0.4395	rs2719710;rs3803673;rs60988360;rs2719710	315	Q96M29	TEKT5_HUMAN	R	315	ENSP00000283025:Q315R	ENSP00000283025:Q315R	Q	-	2	0	TEKT5	10677459	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.681000	0.37618	0.521000	0.28445	-0.213000	0.12676	CAG	T|0.469;C|0.531	0.531	strong		0.562	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		C	10769958	T	C	10769958	3	2	23	1	0	0	0	0	1	0	0	0	15753	1580	55	3	525	3	TEKT5	16	10769958	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	194134	10769958	79584795	3653	20109										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10775855	10775855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtctgatacttacgtgccGtcaattttctccatgccgtg	9	11	3	1	rs71389065|rs12918646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10775855G>A	ENST00000283025.2	-	4	929	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	286						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						CTTACGTGCCGTCAATTTTCT	0.542													G|||	1476	0.294728	0.143	0.4006	5008	,	,		21540	0.5446		0.159	False		,,,				2504	0.3067				p.D286D		Atlas-SNP	.											TEKT5,pharynx,carcinoma,-2,1	TEKT5	66	1	0			c.C858T						scavenged	.	G		720,3674	298.7+/-285.4	72,576,1549	252	191	212		858	-4.4	0.3	16	dbSNP_121	212	1634,6966	298.2+/-303.8	162,1310,2828	no	coding-synonymous	TEKT5	NM_144674.1		234,1886,4377	AA,AG,GG		19.0,16.386,18.1161		286/486	10775855	2354,10640	2197	4300	6497	SO:0001819	synonymous_variant	146279	exon4			CGTGCCGTCAATT		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.858C>T	16.37:g.10775855G>A		Somatic	164	2	0.0121951		WXS	Illumina HiSeq	Phase_I	151	67	0.443709	NM_144674	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																			ATG|0.500;GTC|0.500	.	alt		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10775855	G	A	10775855	2	1	23	1	0	0	0	0	0	0	0	1	15753	1136	40	1		1	TEKT5	16	10775855	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5897	10775855	79578898	3654	20110										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10775932	10775932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcacttctcatcgatacActgggccgagcttttgtctt	8	11	2	0	rs138988373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10775932A>G	ENST00000283025.2	-	4	852	c.781T>C	c.(781-783)Tgt>Cgt	p.C261R		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	261						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						TCATCGATACACTGGGCCGAG	0.532													A|||	11	0.00219649	0.0	0.0058	5008	,	,		22117	0.0		0.006	False		,,,				2504	0.001				p.C261R		Atlas-SNP	.											.	TEKT5	66	.	0			c.T781C						PASS	.	A	ARG/CYS	3,4391	4.2+/-10.8	0,3,2194	277	214	235		781	3.9	0.7	16	dbSNP_134	235	29,8571	21.0+/-64.5	1,27,4272	yes	missense	TEKT5	NM_144674.1	180	1,30,6466	GG,GA,AA		0.3372,0.0683,0.2463	benign	261/486	10775932	32,12962	2197	4300	6497	SO:0001583	missense	146279	exon4			CGATACACTGGGC		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.781T>C	16.37:g.10775932A>G	ENSP00000283025:p.Cys261Arg	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	205	85	0.414634	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	A	1.395	-0.579606	0.03854	6.83E-4	0.003372	ENSG00000153060	ENST00000283025	T	0.02140	4.43	5.05	3.88	0.44766	.	0.349267	0.24492	N	0.038046	T	0.00754	0.0025	N	0.00661	-1.28	0.37910	D	0.931338	B	0.02656	0.0	B	0.01281	0.0	T	0.51655	-0.8678	10	0.15952	T	0.53	-5.2887	5.513	0.16890	0.7338:0.1763:0.0899:0.0	.	261	Q96M29	TEKT5_HUMAN	R	261	ENSP00000283025:C261R	ENSP00000283025:C261R	C	-	1	0	TEKT5	10683433	0.249000	0.23941	0.748000	0.31131	0.005000	0.04900	1.120000	0.31271	1.889000	0.54706	0.533000	0.62120	TGT	A|0.998;G|0.002	0.002	strong		0.532	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		G	10775932	A	G	10775932	3	3	23	1	0	0	0	0	1	0	0	0	15753	159	6	2	692	2	TEKT5	16	10775932	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	77	10775932	79578821	3655	20111										
TEKT5	146279	hgsc.bcm.edu	37	chr16	10788200	10788200	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcacctcattggccgcgcaCtccagccgcctcttgaccgt	8	18	3	1	rs148185751	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10788200C>G	ENST00000283025.2	-	1	602	c.531G>C	c.(529-531)gaG>gaC	p.E177D	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	177						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						TGGCCGCGCACTCCAGCCGCC	0.587													C|||	13	0.00259585	0.0015	0.0058	5008	,	,		17641	0.0		0.006	False		,,,				2504	0.001				p.E177D		Atlas-SNP	.											.	TEKT5	66	.	0			c.G531C						PASS	.	C	ASP/GLU	5,4389	9.9+/-24.2	0,5,2192	137	151	147		531	4.7	1	16	dbSNP_134	147	29,8571	21.0+/-64.5	1,27,4272	yes	missense	TEKT5	NM_144674.1	45	1,32,6464	GG,GC,CC		0.3372,0.1138,0.2617	probably-damaging	177/486	10788200	34,12960	2197	4300	6497	SO:0001583	missense	146279	exon1			CGCGCACTCCAGC		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.531G>C	16.37:g.10788200C>G	ENSP00000283025:p.Glu177Asp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	65	28	0.430769	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	12.33	1.905042	0.33628	0.001138	0.003372	ENSG00000153060	ENST00000283025	T	0.03330	3.97	5.63	4.68	0.58851	.	0.190679	0.36234	N	0.002712	T	0.11281	0.0275	M	0.86343	2.81	0.44380	D	0.997282	B	0.31318	0.319	B	0.41691	0.364	T	0.00458	-1.1727	10	0.66056	D	0.02	-35.8279	8.0289	0.30453	0.0:0.7616:0.0:0.2384	.	177	Q96M29	TEKT5_HUMAN	D	177	ENSP00000283025:E177D	ENSP00000283025:E177D	E	-	3	2	TEKT5	10695701	0.989000	0.36119	0.991000	0.47740	0.036000	0.12997	0.283000	0.18846	1.368000	0.46115	0.650000	0.86243	GAG	C|0.998;G|0.002	0.002	strong		0.587	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		G	10788200	C	G	10788200	3	3	23	1	0	0	0	0	1	0	0	0	15753	564	20	4	954	4	TEKT5	16	10788200	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12268	10788200	79566553	3656	20112										
NUBP1	4682	hgsc.bcm.edu	37	chr16	10846511	10846511	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgggccatcgattcccaaGataatgggattggaaggaga	14	6	0	2	rs2233535	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:10846511G>A	ENST00000283027.5	+	4	322	c.303G>A	c.(301-303)aaG>aaA	p.K101K	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.K101K	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CGATTCCCAAGATAATGGGAT	0.438													G|||	6	0.00119808	0.0	0.0	5008	,	,		20464	0.0		0.006	False		,,,				2504	0.0				p.K101K		Atlas-SNP	.											.	NUBP1	31	.	0			c.G303A						PASS	.	G		4,4390	6.2+/-15.9	0,4,2193	212	197	202		303	0.8	1	16	dbSNP_98	202	43,8557	29.0+/-79.6	0,43,4257	no	coding-synonymous	NUBP1	NM_002484.2		0,47,6450	AA,AG,GG		0.5,0.091,0.3617		101/321	10846511	47,12947	2197	4300	6497	SO:0001819	synonymous_variant	4682	exon4			TCCCAAGATAATG	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.303G>A	16.37:g.10846511G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	161	72	0.447205	NM_002484		Silent	SNP	ENST00000283027.5	37	CCDS10543.1																																																																																			G|0.997;A|0.003	0.003	strong		0.438	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		A	10846511	G	A	10846511	2	1	23	1	0	0	0	0	0	0	0	1	10715	933	33	2		2	NUBP1	16	10846511	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	58311	10846511	79508242	3657	20113										
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11272330	11272330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagccagcctgtcccccaGcctcgtccctgcccggcagc	10	21	0	0	rs72650689	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:11272330G>A	ENST00000409790.1	+	24	3175	c.2945G>A	c.(2944-2946)aGc>aAc	p.S982N	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S69N	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTCCCCCAGCCTCGTCCCT	0.637													G|||	14	0.00279553	0.0008	0.0	5008	,	,		18303	0.0		0.0089	False		,,,				2504	0.0041				p.S982N		Atlas-SNP	.											.	CLEC16A	101	.	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2945A						PASS	.	G	ASN/SER	6,4296		0,6,2145	63	77	72		2945	4.6	1	16	dbSNP_130	72	64,8436		0,64,4186	yes	missense	CLEC16A	NM_015226.2	46	0,70,6331	AA,AG,GG		0.7529,0.1395,0.5468	possibly-damaging	982/1054	11272330	70,12732	2151	4250	6401	SO:0001583	missense	23274	exon23			CCCCCAGCCTCGT	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2945G>A	16.37:g.11272330G>A	ENSP00000387122:p.Ser982Asn	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	26.8	4.771612	0.90108	0.001395	0.007529	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.55930	0.49	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.27053	0.805	0.38000	D	0.934194	D;D	0.67145	0.996;0.967	D;P	0.75484	0.986;0.878	T	0.65878	-0.6061	10	0.72032	D	0.01	-25.0792	15.032	0.71713	0.0:0.0:1.0:0.0	.	69;982	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	N	982;982;69	ENSP00000387122:S982N	ENSP00000371244:S69N	S	+	2	0	CLEC16A	11179831	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.910000	0.75741	2.304000	0.77564	0.655000	0.94253	AGC	A|0.006;G|0.994	0.006	strong		0.637	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		A	11272330	G	A	11272330	3	1	23	1	0	0	0	0	1	0	0	0	3500	971	34	2	3035	2	CLEC16A	16	11272330	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	425819	11272330	79082423	3658	20114										
GSPT1	2935	hgsc.bcm.edu	37	chr16	11969724	11969724	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcatacttgatcttgtttGacaaaacggggtcgggtctt	11	7	2	2	rs33657	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:11969724G>C	ENST00000563468.1	-	12	1367	c.1341C>G	c.(1339-1341)gtC>gtG	p.V447V	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Silent_p.V584V|GSPT1_ENST00000434724.2_Silent_p.V585V|GSPT1_ENST00000420576.2_Silent_p.V447V			P15170	ERF3A_HUMAN	G1 to S phase transition 1	447					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GATCTTGTTTGACAAAACGGG	0.418													C|||	3260	0.650958	0.7761	0.5461	5008	,	,		20444	0.7917		0.4394	False		,,,				2504	0.6288				p.V585V		Atlas-SNP	.											.	GSPT1	71	.	0			c.C1755G						PASS	.	C	,,	3033,1289		1064,905,192	81	82	82		1752,1341,1755	2	1	16	dbSNP_76	82	3390,5176		667,2056,1560	no	coding-synonymous,coding-synonymous,coding-synonymous	GSPT1	NM_001130006.1,NM_001130007.1,NM_002094.3	,,	1731,2961,1752	CC,CG,GG		39.5751,29.8242,49.8371	,,	584/637,447/500,585/638	11969724	6423,6465	2161	4283	6444	SO:0001819	synonymous_variant	2935	exon14			TTGTTTGACAAAA	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1341C>G	16.37:g.11969724G>C		Somatic	250	1	0.004		WXS	Illumina HiSeq	Phase_I	263	137	0.520913	NM_002094	J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	CCDS45414.1																																																																																			G|0.405;C|0.595	0.595	strong		0.418	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		C	11969724	G	C	11969724	2	2	23	1	0	0	0	0	0	0	0	1	6826	1277	45	4		4	GSPT1	16	11969724	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	697394	11969724	78385029	3659	20115										
SNX29	92017	hgsc.bcm.edu	37	chr16	12162969	12162969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagaggaccacgttctcccAgatcctggacttcggtacag	10	14	1	2	rs1641843	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:12162969A>G	ENST00000566228.1	+	10	1368	c.1299A>G	c.(1297-1299)ccA>ccG	p.P433P	SNX29_ENST00000306030.3_Silent_p.P48P|SNX29_ENST00000323433.4_Silent_p.P48P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	433						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.P48P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACGTTCTCCCAGATCCTGGAC	0.463													g|||	3050	0.609026	0.8116	0.5014	5008	,	,		18048	0.5258		0.4632	False		,,,				2504	0.6472				p.P433P		Atlas-SNP	.											SNX29_ENST00000306030,NS,carcinoma,0,1	SNX29	60	1	1	Substitution - coding silent(1)	stomach(1)	c.A1299G						PASS	.			2767,971		1036,695,138	89	97	95		144	-10.7	0	16	dbSNP_89	95	3365,4857		689,1987,1435	no	coding-synonymous	SNX29	NM_001080530.2		1725,2682,1573	GG,GA,AA		40.9268,25.9765,48.7291		48/429	12162969	6132,5828	1869	4111	5980	SO:0001819	synonymous_variant	92017	exon10			TCTCCCAGATCCT	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1299A>G	16.37:g.12162969A>G		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	120	56	0.466667	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	CCDS10553.2																																																																																			A|0.468;G|0.532	0.532	strong		0.463	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			G	12162969	A	G	12162969	2	3	23	1	0	0	0	0	0	0	0	1	14898	175	7	3		3	SNX29	16	12162969	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	193245	12162969	78191784	3660	20116										
MYH11	4629	hgsc.bcm.edu	37	chr16	15841773	15841773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtccatgaagcctttgggGatggcattcgccgccaggat	13	12	0	1	rs12931799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:15841773G>A	ENST00000300036.5	-	18	2317	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	MYH11_ENST00000576790.2_Silent_p.I736I|MYH11_ENST00000452625.2_Silent_p.I743I|MYH11_ENST00000396324.3_Silent_p.I743I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	736	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCCTTTGGGGATGGCATTCG	0.607			T	CBFB	AML								G|||	484	0.0966454	0.1596	0.0548	5008	,	,		19990	0.1101		0.0368	False		,,,				2504	0.089				p.I743I		Atlas-SNP	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11	520	.	0			c.C2229T						PASS	.	G	,,,	636,3758	272.5+/-270.8	41,554,1602	86	80	82		2229,2229,2208,2208	-3.2	1	16	dbSNP_121	82	309,8291	109.6+/-170.1	3,303,3994	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	,,,	44,857,5596	AA,AG,GG		3.593,14.4743,7.2726	,,,	743/1946,743/1980,736/1973,736/1939	15841773	945,12049	2197	4300	6497	SO:0001819	synonymous_variant	4629	exon19			TTTGGGGATGGCA	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2208C>T	16.37:g.15841773G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	89	47	0.52809	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																			G|0.917;A|0.083	0.083	strong		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15841773	G	A	15841773	2	1	23	1	0	0	0	0	0	0	0	1	10031	1164	41	2		2	MYH11	16	15841773	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3678804	15841773	74512980	3661	20117										
ABCC1	4363	hgsc.bcm.edu	37	chr16	16162039	16162039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtgcacatttgccgtctaCgtgaccattgacgagaacaa	9	10	1	3	rs8187858	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:16162039C>T	ENST00000399410.3	+	13	1879	c.1704C>T	c.(1702-1704)taC>taT	p.Y568Y	ABCC1_ENST00000345148.5_Silent_p.Y568Y|ABCC1_ENST00000351154.5_Silent_p.Y568Y|ABCC1_ENST00000399408.2_Silent_p.Y568Y|ABCC1_ENST00000349029.5_Silent_p.Y568Y|ABCC1_ENST00000346370.5_Silent_p.Y568Y	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	568	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTGCCGTCTACGTGACCATTG	0.562													C|||	179	0.0357428	0.0053	0.0504	5008	,	,		19559	0.001		0.0984	False		,,,				2504	0.0378				p.Y568Y		Atlas-SNP	.											.	ABCC1	156	.	0			c.C1704T						PASS	.	C	,,,,	66,4202		0,66,2068	182	177	179		1704,1704,1704,1704,1704	0.1	1	16	dbSNP_123	179	791,7693		41,709,3492	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	41,775,5560	TT,TC,CC		9.3234,1.5464,6.7205	,,,,	568/1532,568/1473,568/1476,568/1417,568/1467	16162039	857,11895	2134	4242	6376	SO:0001819	synonymous_variant	4363	exon13			CGTCTACGTGACC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1704C>T	16.37:g.16162039C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	182	83	0.456044	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																			C|0.953;T|0.047	0.047	strong		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16162039	C	T	16162039	2	4	23	1	0	0	0	0	0	0	0	1	49	547	19	1		1	ABCC1	16	16162039	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	320266	16162039	74192714	3662	20118										
XYLT1	64131	hgsc.bcm.edu	37	chr16	17292074	17292074	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttggctgccttacctgatGgggtagtcggccgcactcag	13	13	1	1	rs28709752	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:17292074G>C	ENST00000261381.6	-	5	1368	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	428					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTACCTGATGGGGTAGTCGG	0.607													G|||	632	0.126198	0.2209	0.1441	5008	,	,		16424	0.0268		0.1461	False		,,,				2504	0.0675				p.P428P		Atlas-SNP	.											.	XYLT1	147	.	0			c.C1284G						PASS	.	G		956,3438	357.9+/-314.1	110,736,1351	58	53	55		1284	2.1	1	16	dbSNP_125	55	1377,7223	264.1+/-285.4	116,1145,3039	no	coding-synonymous	XYLT1	NM_022166.3		226,1881,4390	CC,CG,GG		16.0116,21.7569,17.9544		428/960	17292074	2333,10661	2197	4300	6497	SO:0001819	synonymous_variant	64131	exon5			CCTGATGGGGTAG	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1284C>G	16.37:g.17292074G>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	76	39	0.513158	NM_022166	Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																			G|0.846;C|0.154	0.154	strong		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		C	17292074	G	C	17292074	2	2	23	1	0	0	0	0	0	0	0	1	17460	1335	47	4		4	XYLT1	16	17292074	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1130035	17292074	73062679	3663	20119										
SMG1	23049	hgsc.bcm.edu	37	chr16	18846429	18846429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctgcagggtcatttcagtGgcagtgatgaactgacacac	12	10	2	3	rs56079655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:18846429G>A	ENST00000446231.2	-	49	8527	c.8115C>T	c.(8113-8115)gcC>gcT	p.A2705A	SMG1_ENST00000389467.3_Silent_p.A2705A			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2705					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCATTTCAGTGGCAGTGATGA	0.458													G|||	89	0.0177716	0.0008	0.0303	5008	,	,		18948	0.001		0.0477	False		,,,				2504	0.0184				p.A2705A		Atlas-SNP	.											.	SMG1	401	.	0			c.C8115T						PASS	.	G		33,3825		1,31,1897	119	115	116		8115	4.6	1	16	dbSNP_129	116	336,7966		5,326,3820	no	coding-synonymous	SMG1	NM_015092.4		6,357,5717	AA,AG,GG		4.0472,0.8554,3.0345		2705/3662	18846429	369,11791	1929	4151	6080	SO:0001819	synonymous_variant	23049	exon49			TTCAGTGGCAGTG	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8115C>T	16.37:g.18846429G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	132	69	0.522727	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																			G|0.972;A|0.028	0.028	strong		0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		A	18846429	G	A	18846429	2	1	23	1	0	0	0	0	0	0	0	1	14795	1335	47	2		2	SMG1	16	18846429	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1554355	18846429	71508324	3664	20120										
TMC7	79905	hgsc.bcm.edu	37	chr16	19041595	19041595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggacattacaccattgatgGggtgaaatttcagaacttca	9	8	2	3	rs28583298	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:19041595G>A	ENST00000304381.5	+	6	891	c.761G>A	c.(760-762)gGg>gAg	p.G254E	TMC7_ENST00000569532.1_Missense_Mutation_p.G254E|TMC7_ENST00000421369.3_Missense_Mutation_p.G144E	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	254			G -> E (in dbSNP:rs28583298). {ECO:0000269|PubMed:12812529, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCATTGATGGGGTGAAATTT	0.478													G|||	2723	0.54373	0.171	0.598	5008	,	,		20258	0.7788		0.6491	False		,,,				2504	0.6585				p.G254E		Atlas-SNP	.											.	TMC7	75	.	0			c.G761A						PASS	.	G	GLU/GLY,GLU/GLY	1084,3310	391.7+/-328.2	124,836,1237	143	128	133		431,761	4.5	1	16	dbSNP_125	133	5395,3205	653.2+/-401.0	1717,1961,622	yes	missense,missense	TMC7	NM_001160364.1,NM_024847.3	98,98	1841,2797,1859	AA,AG,GG		37.2674,24.67,49.8615	benign,benign	144/614,254/724	19041595	6479,6515	2197	4300	6497	SO:0001583	missense	79905	exon6			TTGATGGGGTGAA	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.761G>A	16.37:g.19041595G>A	ENSP00000304710:p.Gly254Glu	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	150	144	0.96	NM_024847	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	1235	0.5654761904761905	96	0.1951219512195122	213	0.5883977900552486	444	0.7762237762237763	482	0.6358839050131926	G	13.07	2.127155	0.37533	0.2467	0.627326	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.49432	0.78;0.78	5.52	4.51	0.55191	.	0.357378	0.30076	N	0.010468	T	0.00012	0.0000	N	0.14661	0.345	0.32260	P	0.5702929999999999	B	0.02656	0.0	B	0.12156	0.007	T	0.37197	-0.9716	9	0.02654	T	1	.	13.4685	0.61270	0.0:0.3142:0.6858:0.0	rs4072393;rs5816024;rs17527436	254	Q7Z402	TMC7_HUMAN	E	254;144	ENSP00000304710:G254E;ENSP00000397081:G144E	ENSP00000304710:G254E	G	+	2	0	TMC7	18949096	0.953000	0.32496	0.997000	0.53966	0.974000	0.67602	1.028000	0.30128	2.770000	0.95276	0.655000	0.94253	GGG	G|0.443;A|0.557	0.557	strong		0.478	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		A	19041595	G	A	19041595	3	1	23	1	0	0	0	0	1	0	0	0	15987	1232	43	2	783	2	TMC7	16	19041595	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	195166	19041595	71313158	3665	20121										
COQ7	10229	hgsc.bcm.edu	37	chr16	19085298	19085298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcaatgagttgatggttaCgttcagggtccggccaacag	13	8	2	2	rs11074359	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:19085298C>T	ENST00000321998.5	+	3	374	c.308C>T	c.(307-309)aCg>aTg	p.T103M	COQ7_ENST00000569127.1_Missense_Mutation_p.T80M|COQ7_ENST00000568985.1_Missense_Mutation_p.T103M|COQ7_ENST00000544894.2_Missense_Mutation_p.T65M	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	103	2 X approximate tandem repeats.		T -> M (in dbSNP:rs11074359). {ECO:0000269|PubMed:10373327, ECO:0000269|PubMed:10501970, ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9020081}.		age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TTGATGGTTACGTTCAGGGTC	0.448													C|||	2878	0.574681	0.2655	0.6196	5008	,	,		19214	0.8145		0.6461	False		,,,				2504	0.6401				p.T103M		Atlas-SNP	.											.	COQ7	16	.	0			c.C308T						PASS	.	C	MET/THR,MET/THR	1489,2905	475.2+/-357.2	229,1031,937	125	104	111		194,308	5.9	0.3	16	dbSNP_120	111	5496,3104	657.7+/-401.5	1773,1950,577	yes	missense,missense	COQ7	NM_001190983.1,NM_016138.4	81,81	2002,2981,1514	TT,TC,CC		36.093,33.8871,46.2444	possibly-damaging,possibly-damaging	65/180,103/218	19085298	6985,6009	2197	4300	6497	SO:0001583	missense	10229	exon3			TGGTTACGTTCAG	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.308C>T	16.37:g.19085298C>T	ENSP00000322316:p.Thr103Met	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	178	90	0.505618	NM_016138	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	CCDS10574.1	1329	0.6085164835164835	146	0.2967479674796748	225	0.6215469613259669	473	0.8269230769230769	485	0.6398416886543535	C	18.35	3.605641	0.66445	0.338871	0.63907	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.424017	0.29616	N	0.011650	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	P	0.47034	0.889	P	0.50109	0.631	T	0.13791	-1.0496	9	0.66056	D	0.02	-4.7588	19.9089	0.97019	0.0:1.0:0.0:0.0	rs11074359;rs17357840;rs60588972;rs11074359	103	Q99807	COQ7_HUMAN	M	103;65	ENSP00000322316:T103M;ENSP00000442923:T65M	ENSP00000322316:T103M	T	+	2	0	COQ7	18992799	0.228000	0.23718	0.328000	0.25416	0.913000	0.54294	3.071000	0.50041	2.793000	0.96121	0.655000	0.94253	ACG	C|0.434;T|0.566	0.566	strong		0.448	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		T	19085298	C	T	19085298	3	4	23	1	0	0	0	0	1	0	0	0	3750	536	19	1	318	1	COQ7	16	19085298	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43703	19085298	71269455	3666	20122										
ITPRIPL2	162073	hgsc.bcm.edu	37	chr16	19127347	19127347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttgccaggtgccccccaCcccggagtcagcgcacccag	10	20	1	0	rs11074362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:19127347C>T	ENST00000381440.3	+	1	2094	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	522			P -> S (in dbSNP:rs11074362).			integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTGCCCCCCACCCCGGAGTCA	0.652													C|||	260	0.0519169	0.1369	0.0159	5008	,	,		15561	0.004		0.0358	False		,,,				2504	0.0286				p.P522S		Atlas-SNP	.											.	ITPRIPL2	40	.	0			c.C1564T						PASS	.	C	SER/PRO	484,3910	223.3+/-239.8	28,428,1741	55	57	56		1564	3.4	0.7	16	dbSNP_120	56	290,8310	106.2+/-167.1	6,278,4016	yes	missense	ITPRIPL2	NM_001034841.3	74	34,706,5757	TT,TC,CC		3.3721,11.015,5.9566	possibly-damaging	522/536	19127347	774,12220	2197	4300	6497	SO:0001583	missense	162073	exon1			CCCCCACCCCGGA		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1564C>T	16.37:g.19127347C>T	ENSP00000370849:p.Pro522Ser	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	80	46	0.575	NM_001034841		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	95	0.043498168498168496	64	0.13008130081300814	3	0.008287292817679558	3	0.005244755244755245	25	0.032981530343007916	C	12.36	1.914419	0.33815	0.11015	0.033721	ENSG00000205730	ENST00000381440	T	0.14766	2.48	5.5	3.41	0.39046	.	0.000000	0.36555	U	0.002532	T	0.00144	0.0004	N	0.24115	0.695	0.36126	D	0.845812	D	0.56287	0.975	P	0.45712	0.491	T	0.35699	-0.9778	10	0.66056	D	0.02	-11.5233	13.222	0.59894	0.0:0.6954:0.3046:0.0	rs11074362;rs52813532;rs61562573;rs11074362	522	Q3MIP1	IPIL2_HUMAN	S	522	ENSP00000370849:P522S	ENSP00000370849:P522S	P	+	1	0	ITPRIPL2	19034848	0.112000	0.22096	0.732000	0.30844	0.937000	0.57800	0.662000	0.25038	1.302000	0.44855	0.561000	0.74099	CCC	C|0.945;T|0.055	0.055	strong		0.652	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		T	19127347	C	T	19127347	3	4	23	1	0	0	0	0	1	0	0	0	7925	507	18	2	1566	2	ITPRIPL2	16	19127347	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	42049	19127347	71227406	3667	20123										
TMC5	79838	hgsc.bcm.edu	37	chr16	19451987	19451987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaagcctgattatccaggCgctgacattcaacctaactc	8	12	1	2	rs148052684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:19451987C>T	ENST00000396229.2	+	3	1376	c.627C>T	c.(625-627)ggC>ggT	p.G209G	TMC5_ENST00000542583.2_Silent_p.G209G|TMC5_ENST00000381414.4_Silent_p.G209G|TMC5_ENST00000541464.1_Silent_p.G209G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	209					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTATCCAGGCGCTGACATTC	0.463													C|||	26	0.00519169	0.0015	0.0101	5008	,	,		20856	0.0		0.0159	False		,,,				2504	0.001				p.G209G		Atlas-SNP	.											.	TMC5	169	.	0			c.C627T						PASS	.	C	,	9,3985		0,9,1988	70	69	70		627,627	-3.4	0.8	16	dbSNP_134	70	131,8235		2,127,4054	no	coding-synonymous,coding-synonymous	TMC5	NM_001105248.1,NM_001105249.1	,	2,136,6042	TT,TC,CC		1.5659,0.2253,1.1327	,	209/1007,209/949	19451987	140,12220	1997	4183	6180	SO:0001819	synonymous_variant	79838	exon3			TCCAGGCGCTGAC	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.627C>T	16.37:g.19451987C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	119	60	0.504202	NM_001105249	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	CCDS45431.1																																																																																			C|0.992;T|0.008	0.008	strong		0.463	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19451987	C	T	19451987	2	4	23	1	0	0	0	0	0	0	0	1	15985	755	27	1		1	TMC5	16	19451987	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	324640	19451987	70902766	3668	20124										
CP110	9738	hgsc.bcm.edu	37	chr16	19548152	19548152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacatcatcagcgtgtcaTatacttataaataacccaat	5	9	3	0	rs179050	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:19548152T>C	ENST00000381396.5	+	4	1408	c.1161T>C	c.(1159-1161)caT>caC	p.H387H	CCP110_ENST00000396208.2_Silent_p.H387H|CCP110_ENST00000396212.2_Silent_p.H387H	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	387	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAGCGTGTCATATACTTATAA	0.373													T|||	386	0.0770767	0.1641	0.0663	5008	,	,		21213	0.002		0.0964	False		,,,				2504	0.0245				p.H387H		Atlas-SNP	.											CCP110,NS,adenoma,0,1	CCP110	57	1	0			c.T1161C						PASS	.	T	,	675,3715	263.4+/-265.5	45,585,1565	54	54	54		1161,1161	0.7	1	16	dbSNP_79	54	836,7764	188.0+/-235.1	37,762,3501	no	coding-synonymous,coding-synonymous	CCP110	NM_001199022.1,NM_014711.4	,	82,1347,5066	CC,CT,TT		9.7209,15.3759,11.632	,	387/1013,387/992	19548152	1511,11479	2195	4300	6495	SO:0001819	synonymous_variant	9738	exon4			GTGTCATATACTT	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1161T>C	16.37:g.19548152T>C		Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	209	106	0.507177	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	CCDS55992.1																																																																																			T|0.896;C|0.104	0.104	strong		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		C	19548152	T	C	19548152	2	2	23	1	0	0	0	0	0	0	0	1	3788	1403	49	2		2	CP110	16	19548152	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	96165	19548152	70806601	3669	20125										
UMOD	7369	hgsc.bcm.edu	37	chr16	20359633	20359633	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atactgcactcctcacacgtCccctccacggagctggggtc	9	17	1	0	rs28544423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20359633C>T	ENST00000570689.1	-	4	1031	c.885G>A	c.(883-885)ggG>ggA	p.G295G	UMOD_ENST00000396134.2_Silent_p.G328G|UMOD_ENST00000396138.4_Silent_p.G344G|UMOD_ENST00000424589.1_Silent_p.G328G|UMOD_ENST00000396142.2_Silent_p.G295G|UMOD_ENST00000302509.4_Silent_p.G295G			P07911	UROM_HUMAN	uromodulin	295					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTCACACGTCCCCTCCACGG	0.567													c|||	580	0.115815	0.0673	0.1599	5008	,	,		20928	0.0129		0.1998	False		,,,				2504	0.1697				p.G295G		Atlas-SNP	.											.	UMOD	128	.	0			c.G885A						PASS	.		,	337,4069	175.5+/-204.9	17,303,1883	196	177	183		885,885	-4.2	0.5	16	dbSNP_125	183	1626,6974	301.8+/-305.6	154,1318,2828	no	coding-synonymous,coding-synonymous	UMOD	NM_001008389.1,NM_003361.2	,	171,1621,4711	TT,TC,CC		18.907,7.6487,15.093	,	295/641,295/641	20359633	1963,11043	2203	4300	6503	SO:0001819	synonymous_variant	7369	exon4			ACACGTCCCCTCC	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.885G>A	16.37:g.20359633C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	70	28	0.4	NM_003361	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	CCDS10583.1																																																																																			C|0.858;T|0.142	0.142	strong		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20359633	C	T	20359633	2	4	23	1	0	0	0	0	0	0	0	1	16976	842	30	2		2	UMOD	16	20359633	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	811481	20359633	69995120	3670	20126										
UMOD	7369	hgsc.bcm.edu	37	chr16	20359831	20359831	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagccgccggcacaggccttCacctggacggacgcatccca	11	17	1	0	rs13335818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20359831C>T	ENST00000570689.1	-	3	938	c.792G>A	c.(790-792)gtG>gtA	p.V264V	UMOD_ENST00000396134.2_Silent_p.V297V|UMOD_ENST00000396138.4_Silent_p.V313V|UMOD_ENST00000424589.1_Silent_p.V297V|UMOD_ENST00000396142.2_Silent_p.V264V|UMOD_ENST00000302509.4_Silent_p.V264V			P07911	UROM_HUMAN	uromodulin	264					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACAGGCCTTCACCTGGACGG	0.667													c|||	603	0.120407	0.093	0.1671	5008	,	,		18285	0.0139		0.1998	False		,,,				2504	0.1524				p.V264V		Atlas-SNP	.											.	UMOD	128	.	0			c.G792A						PASS	.		,	441,3961		23,395,1783	17	19	18		792,792	2.7	1	16	dbSNP_121	18	1575,7015		153,1269,2873	no	coding-synonymous,coding-synonymous	UMOD	NM_001008389.1,NM_003361.2	,	176,1664,4656	TT,TC,CC		18.3353,10.0182,15.5172	,	264/641,264/641	20359831	2016,10976	2201	4295	6496	SO:0001819	synonymous_variant	7369	exon3			GGCCTTCACCTGG	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.792G>A	16.37:g.20359831C>T		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	37	23	0.621622	NM_003361	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	CCDS10583.1																																																																																			C|0.866;T|0.134	0.134	strong		0.667	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20359831	C	T	20359831	2	4	23	1	0	0	0	0	0	0	0	1	16976	813	29	2		2	UMOD	16	20359831	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	198	20359831	69994922	3671	20127										
PDILT	204474	hgsc.bcm.edu	37	chr16	20371972	20371972	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtgtgttctcccttatacAggacagcctaggatgaaaat	11	8	1	1	rs4500734	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20371972A>C	ENST00000302451.4	-	11	1672	c.1424T>G	c.(1423-1425)cTg>cGg	p.L475R		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	475			L -> R (in dbSNP:rs4500734).		cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCCCTTATACAGGACAGCCTA	0.488													A|||	86	0.0171725	0.031	0.0115	5008	,	,		20637	0.002		0.0149	False		,,,				2504	0.0204				p.L475R		Atlas-SNP	.											.	PDILT	120	.	0			c.T1424G						PASS	.	A	ARG/LEU	171,4235	113.3+/-151.4	2,167,2034	146	133	138		1424	-4	0	16	dbSNP_111	138	143,8457	70.3+/-132.9	0,143,4157	yes	missense	PDILT	NM_174924.1	102	2,310,6191	CC,CA,AA		1.6628,3.8811,2.4143	benign	475/585	20371972	314,12692	2203	4300	6503	SO:0001583	missense	204474	exon11			TTATACAGGACAG		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1424T>G	16.37:g.20371972A>C	ENSP00000305465:p.Leu475Arg	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	232	111	0.478448	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	30	0.013736263736263736	15	0.03048780487804878	5	0.013812154696132596	0	0.0	10	0.013192612137203167	A	2.551	-0.303994	0.05495	0.038811	0.016628	ENSG00000169340	ENST00000302451	T	0.03094	4.05	4.58	-4.03	0.04021	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.670897	0.15388	N	0.264943	T	0.00328	0.0010	N	0.02391	-0.57	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42932	-0.9422	10	0.19147	T	0.46	.	3.8562	0.08976	0.2633:0.0:0.2602:0.4765	rs4500734;rs52825116;rs60405183;rs4500734	475	Q8N807	PDILT_HUMAN	R	475	ENSP00000305465:L475R	ENSP00000305465:L475R	L	-	2	0	PDILT	20279473	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.772000	0.04694	-0.854000	0.04131	-0.280000	0.10049	CTG	A|0.975;C|0.025	0.025	strong		0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		C	20371972	A	C	20371972	3	2	23	1	0	0	0	0	1	0	0	0	11674	188	7	5	338	5	PDILT	16	20371972	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12141	20371972	69982781	3672	20128										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20432605	20432605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttctacagagcacaactgcAtgaggacaaagagtcgagac	10	10	1	4	rs59025904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20432605A>G	ENST00000331849.4	+	5	796	c.649A>G	c.(649-651)Atg>Gtg	p.M217V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	217			M -> V (in dbSNP:rs59025904).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCACAACTGCATGAGGACAAA	0.517													G|||	684	0.136581	0.3079	0.0605	5008	,	,		14543	0.0615		0.0487	False		,,,				2504	0.1268				p.M217V		Atlas-SNP	.											.	ACSM5	101	.	0			c.A649G						PASS	.	G	VAL/MET	1224,3182	706.7+/-407.4	172,880,1151	61	60	60		649	1.2	0	16	dbSNP_129	60	496,8104	797.0+/-407.5	13,470,3817	yes	missense	ACSM5	NM_017888.2	21	185,1350,4968	GG,GA,AA		5.7674,27.7803,13.2247	benign	217/580	20432605	1720,11286	2203	4300	6503	SO:0001583	missense	54988	exon5			AACTGCATGAGGA		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.649A>G	16.37:g.20432605A>G	ENSP00000327916:p.Met217Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	73	34	0.465753	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	250	0.11446886446886446	145	0.29471544715447157	27	0.07458563535911603	37	0.06468531468531469	41	0.05408970976253298	G	0.001	-3.144640	0.00029	0.277803	0.057674	ENSG00000183549	ENST00000331849	T	0.42513	0.97	4.43	1.23	0.21249	AMP-dependent synthetase/ligase (1);	0.373188	0.22389	N	0.060709	T	0.00012	0.0000	N	0.00113	-2.09	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	9	0.02654	T	1	-3.0733	9.1067	0.36703	0.1418:0.3348:0.5234:0.0	rs59025904	217	Q6NUN0	ACSM5_HUMAN	V	217	ENSP00000327916:M217V	ENSP00000327916:M217V	M	+	1	0	ACSM5	20340106	0.004000	0.15560	0.023000	0.16930	0.055000	0.15305	-0.147000	0.10234	-0.295000	0.08960	-2.208000	0.00301	ATG	A|0.875;G|0.125	0.125	strong		0.517	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		G	20432605	A	G	20432605	3	3	23	1	0	0	0	0	1	0	0	0	187	217	8	2	663	2	ACSM5	16	20432605	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	60633	20432605	69922148	3673	20129										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20435262	20435262	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggtggccttgaccgaatcTgacatcttctggaacacgac	11	11	3	2	rs12103211	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20435262T>G	ENST00000331849.4	+	6	939	c.792T>G	c.(790-792)tcT>tcG	p.S264S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	264					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGACCGAATCTGACATCTTCT	0.473													G|||	765	0.152756	0.3646	0.0634	5008	,	,		20759	0.0615		0.0487	False		,,,				2504	0.1309				p.S264S		Atlas-SNP	.											.	ACSM5	101	.	0			c.T792G						PASS	.	G		1453,2953	681.4+/-404.0	239,975,989	196	183	187		792	-5.5	0.2	16	dbSNP_120	187	498,8102	796.9+/-407.5	14,470,3816	no	coding-synonymous	ACSM5	NM_017888.2		253,1445,4805	GG,GT,TT		5.7907,32.9778,15.0008		264/580	20435262	1951,11055	2203	4300	6503	SO:0001819	synonymous_variant	54988	exon6			CGAATCTGACATC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.792T>G	16.37:g.20435262T>G		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	152	75	0.493421	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	CCDS10585.1																																																																																			T|0.853;G|0.147	0.147	strong		0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		G	20435262	T	G	20435262	2	3	23	1	0	0	0	0	0	0	0	1	187	1567	55	5		5	ACSM5	16	20435262	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2657	20435262	69919491	3674	20130										
ERI2	112479	hgsc.bcm.edu	37	chr16	20810067	20810067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttccttgcttttgcataTagataggtgaattcaaggta	8	5	1	2	rs3213646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:20810067T>C	ENST00000357967.4	-	9	1097	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	ERI2_ENST00000563117.1_Missense_Mutation_p.Y259C|ERI2_ENST00000389345.5_Missense_Mutation_p.Y87C|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Missense_Mutation_p.Y259C|ERI2_ENST00000569729.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	352				Y -> C (in Ref. 4; BAA96028). {ECO:0000305}.			exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTTTGCATATAGATAGGTGA	0.383													T|||	1602	0.319888	0.0915	0.5014	5008	,	,		20635	0.1528		0.5805	False		,,,				2504	0.4039				p.Y352C		Atlas-SNP	.											.	ERI2	50	.	0			c.A1055G						PASS	.	T	CYS/TYR,	245,1139		18,209,465	105	90	95		1055,	-4.4	0	16	dbSNP_106	95	1820,1362		509,802,280	yes	missense,intron	ERI2	NM_001142725.1,NM_080663.2	194,	527,1011,745	CC,CT,TT		42.8033,17.7023,45.2256	benign,	352/692,	20810067	2065,2501	692	1591	2283	SO:0001583	missense	112479	exon9			TGCATATAGATAG	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1055A>G	16.37:g.20810067T>C	ENSP00000350651:p.Tyr352Cys	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	100	0.980392	NM_001142725	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	747	0.34203296703296704	54	0.10975609756097561	168	0.46408839779005523	88	0.15384615384615385	437	0.5765171503957783	T	7.807	0.714797	0.15306	0.177023	0.571967	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.19105	2.21;2.17	4.94	-4.38	0.03622	.	2.213460	0.01814	N	0.033658	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46679	-0.9174	9	0.40728	T	0.16	1.6145	4.0005	0.09577	0.1145:0.2589:0.4658:0.1609	rs3213646;rs17690686;rs52837000;rs58027232;rs3213646	352	A8K979	ERI2_HUMAN	C	352;87	ENSP00000350651:Y352C;ENSP00000373996:Y87C	ENSP00000350651:Y352C	Y	-	2	0	ERI2	20717568	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-0.080000	0.11339	-0.792000	0.04480	0.533000	0.62120	TAT	T|0.674;C|0.326	0.326	strong		0.383	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		C	20810067	T	C	20810067	3	2	23	1	0	0	0	0	1	0	0	0	5228	1406	49	2	1291	2	ERI2	16	20810067	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	374805	20810067	69544686	3675	20131										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21145648	21145648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagatgctcctcgttccaCttcttggcgctcctgtagac	9	14	1	2	rs11074483	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:21145648C>T	ENST00000261383.3	-	7	1013	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	DNAH3_ENST00000415178.1_Silent_p.K338K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	338	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)|microtubule motor activity (GO:0003777)	p.K338K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCGTTCCACTTCTTGGCGC	0.522													C|||	1251	0.2498	0.1853	0.3646	5008	,	,		18455	0.2946		0.2336	False		,,,				2504	0.226				p.K338K		Atlas-SNP	.											DNAH3_ENST00000261383,NS,carcinoma,0,2	DNAH3	1142	2	2	Substitution - coding silent(2)	stomach(2)	c.G1014A						PASS	.	C		915,3487	351.3+/-311.2	97,721,1383	112	106	108		1014	3.9	1	16	dbSNP_120	108	2100,6500	363.6+/-333.2	263,1574,2463	no	coding-synonymous	DNAH3	NM_017539.1		360,2295,3846	TT,TC,CC		24.4186,20.786,23.1887		338/4117	21145648	3015,9987	2201	4300	6501	SO:0001819	synonymous_variant	55567	exon7			GTTCCACTTCTTG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1014G>A	16.37:g.21145648C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																			C|0.759;T|0.241	0.241	strong		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21145648	C	T	21145648	2	4	23	1	0	0	0	0	0	0	0	1	4603	564	20	2		2	DNAH3	16	21145648	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	335581	21145648	69209105	3676	20132										
DNAH3	55567	hgsc.bcm.edu	37	chr16	21151913	21151913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccatttccatctcctgctGtaacatgacatcgagctgct	6	13	1	1	rs72780891	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:21151913G>T	ENST00000261383.3	-	5	639	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.Q214K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	214	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTCCTGCTGTAACATGACA	0.488													G|||	856	0.170927	0.0968	0.2954	5008	,	,		22605	0.129		0.1869	False		,,,				2504	0.2096				p.Q214K		Atlas-SNP	.											DNAH3_ENST00000261383,colon,carcinoma,0,2	DNAH3	1142	2	0			c.C640A						scavenged	.	G	LYS/GLN	531,3871	240.6+/-251.3	33,465,1703	275	222	240		640	4.1	1	16	dbSNP_130	240	1751,6849	319.2+/-314.1	183,1385,2732	yes	missense	DNAH3	NM_017539.1	53	216,1850,4435	TT,TG,GG		20.3605,12.0627,17.5511	benign	214/4117	21151913	2282,10720	2201	4300	6501	SO:0001583	missense	55567	exon5			CCTGCTGTAACAT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.640C>A	16.37:g.21151913G>T	ENSP00000261383:p.Gln214Lys	Somatic	239	1	0.0041841		WXS	Illumina HiSeq	Phase_I	217	90	0.414747	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	355	0.16254578754578755	45	0.09146341463414634	90	0.24861878453038674	65	0.11363636363636363	155	0.20448548812664907	G	8.534	0.871685	0.17322	0.120627	0.203605	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.20881	2.04;2.21	5.07	4.1	0.47936	.	0.771253	0.12304	N	0.480826	T	0.00012	0.0000	L	0.42245	1.32	0.40662	P	0.017862000000000045	B;B	0.26363	0.001;0.147	B;B	0.25506	0.001;0.061	T	0.35574	-0.9783	9	0.05525	T	0.97	.	3.8791	0.09071	0.0866:0.1655:0.5763:0.1716	.	214;185	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	K	214;214;185	ENSP00000261383:Q214K;ENSP00000394245:Q214K	ENSP00000261383:Q214K	Q	-	1	0	DNAH3	21059414	0.540000	0.26410	1.000000	0.80357	0.906000	0.53458	0.697000	0.25556	1.318000	0.45170	0.655000	0.94253	CAG	G|0.825;T|0.175	0.175	strong		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21151913	G	T	21151913	3	4	23	1	0	0	0	0	1	0	0	0	4603	1386	48	4	11941	4	DNAH3	16	21151913	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6265	21151913	69202840	3677	20133										
HS3ST2	9956	hgsc.bcm.edu	37	chr16	22826339	22826339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctggagtttatccgagtAcacccggacgtgcgggcctt	14	11	0	0	rs208951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:22826339A>G	ENST00000261374.3	+	1	842	c.408A>G	c.(406-408)gtA>gtG	p.V136V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	136					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTATCCGAGTACACCCGGACG	0.642													G|||	2053	0.409944	0.5393	0.4741	5008	,	,		13709	0.3571		0.3688	False		,,,				2504	0.2863				p.V136V		Atlas-SNP	.											.	HS3ST2	59	.	0			c.A408G						PASS	.	G		2219,2135		595,1029,553	18	22	20		408	3.1	1	16	dbSNP_79	20	3139,5409		615,1909,1750	no	coding-synonymous	HS3ST2	NM_006043.1		1210,2938,2303	GG,GA,AA		36.722,49.0354,41.5284		136/368	22826339	5358,7544	2177	4274	6451	SO:0001819	synonymous_variant	9956	exon1			CCGAGTACACCCG	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.408A>G	16.37:g.22826339A>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	134	56	0.41791	NM_006043	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																			A|0.600;G|0.400	0.400	strong		0.642	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		G	22826339	A	G	22826339	2	3	23	1	0	0	0	0	0	0	0	1	7364	378	14	2		2	HS3ST2	16	22826339	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1674426	22826339	67528414	3678	20134										
USP31	57478	hgsc.bcm.edu	37	chr16	23091371	23091371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccatagggccgtctccacGgggaccaatgcgatggcaaa	13	12	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:23091371G>A	ENST00000219689.7	-	13	2071	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	333	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCGTCTCCACGGGGACCAATG	0.562																																					p.P691L		Atlas-SNP	.											.	USP31	122	.	0			c.C2072T						PASS	.						126	109	114					16																	23091371		2197	4300	6497	SO:0001583	missense	57478	exon13			CTCCACGGGGACC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2072C>T	16.37:g.23091371G>A	ENSP00000219689:p.Pro691Leu	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	264	15	0.0568182	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393555	0.83011	.	.	ENSG00000103404	ENST00000219689	T	0.10005	2.92	4.91	3.96	0.45880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.25791	0.0628	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00641	-1.1631	10	0.59425	D	0.04	-16.8435	12.2435	0.54558	0.0829:0.0:0.9171:0.0	.	691	Q70CQ4	UBP31_HUMAN	L	691	ENSP00000219689:P691L	ENSP00000219689:P691L	P	-	2	0	USP31	22998872	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.471000	0.97696	1.058000	0.40530	0.557000	0.71058	CCG	.	.	none		0.562	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		A	23091371	G	A	23091371	3	1	23	1	0	0	0	0	1	0	0	0	17059	1116	39	1	2002	1	USP31	16	23091371	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	265032	23091371	67263382	3679	20135										
USP31	57478	hgsc.bcm.edu	37	chr16	23098422	23098422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attttttttacctttctactAttgggtggcacaagggctgc	9	8	1	0	rs13339649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:23098422A>G	ENST00000219689.7	-	9	1612	c.1613T>C	c.(1612-1614)aTa>aCa	p.I538T		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTTTCTACTATTGGGTGGCA	0.373													G|||	1212	0.242013	0.1528	0.3876	5008	,	,		17229	0.1577		0.333	False		,,,				2504	0.2526				p.I538T		Atlas-SNP	.											.	USP31	122	.	0			c.T1613C						PASS	.	G	THR/ILE	784,3610	739.3+/-411.1	61,662,1474	43	41	41		1613	5.2	0.3	16	dbSNP_121	41	2719,5881	672.8+/-403.0	451,1817,2032	yes	missense	USP31	NM_020718.3	89	512,2479,3506	GG,GA,AA		31.6163,17.8425,26.9586	benign	538/1353	23098422	3503,9491	2197	4300	6497	SO:0001583	missense	57478	exon9			TCTACTATTGGGT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1613T>C	16.37:g.23098422A>G	ENSP00000219689:p.Ile538Thr	Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	185	185	1	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	553	0.2532051282051282	79	0.16056910569105692	122	0.3370165745856354	101	0.17657342657342656	251	0.3311345646437995	G	0.103	-1.149700	0.01714	0.178425	0.316163	ENSG00000103404	ENST00000219689	T	0.05855	3.38	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.216830	0.38605	N	0.001629	T	0.00012	0.0000	N	0.01824	-0.7	0.09310	P	0.9999999999999974	B	0.02656	0.0	B	0.01281	0.0	T	0.44097	-0.9350	9	0.06099	T	0.92	-1.3192	13.0274	0.58823	0.0773:0.0:0.9227:0.0	rs13339649;rs17796752;rs52819210;rs57007803;rs13339649	538	Q70CQ4	UBP31_HUMAN	T	538	ENSP00000219689:I538T	ENSP00000219689:I538T	I	-	2	0	USP31	23005923	1.000000	0.71417	0.349000	0.25694	0.180000	0.23129	6.345000	0.72995	1.194000	0.43101	-0.349000	0.07799	ATA	A|0.742;G|0.258	0.258	strong		0.373	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		G	23098422	A	G	23098422	3	3	23	1	0	0	0	0	1	0	0	0	17059	449	16	2	2477	2	USP31	16	23098422	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7051	23098422	67256331	3680	20136										
SCNN1G	6340	hgsc.bcm.edu	37	chr16	23200761	23200761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggccctgaagtccctgtaTggctttccagagtcccggaa	12	12	0	2	rs5734	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:23200761T>C	ENST00000300061.2	+	3	530	c.387T>C	c.(385-387)taT>taC	p.Y129Y		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	129					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGTCCCTGTATGGCTTTCCAG	0.587													C|||	1197	0.239018	0.1324	0.3934	5008	,	,		16730	0.1677		0.335	False		,,,				2504	0.2485				p.Y129Y		Atlas-SNP	.											.	SCNN1G	82	.	0			c.T387C						PASS	.	C		742,3652	753.6+/-412.4	58,626,1513	78	86	83		387	-5.3	0	16	dbSNP_52	83	2759,5841	677.3+/-403.4	459,1841,2000	no	coding-synonymous	SCNN1G	NM_001039.3		517,2467,3513	CC,CT,TT		32.0814,16.8867,26.9432		129/650	23200761	3501,9493	2197	4300	6497	SO:0001819	synonymous_variant	6340	exon3			CCTGTATGGCTTT	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.387T>C	16.37:g.23200761T>C		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	72	70	0.972222	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	37	CCDS10608.1																																																																																			T|0.744;C|0.256	0.256	strong		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		C	23200761	T	C	23200761	2	2	23	1	0	0	0	0	0	0	0	1	13930	1471	51	2		2	SCNN1G	16	23200761	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	102339	23200761	67153992	3681	20137										
SCNN1G	6340	hgsc.bcm.edu	37	chr16	23226618	23226619	+	In_Frame_Ins	INS	-	-	TCC													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccacagggccaggacaaINStccagccctggatatagacg							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:23226618_23226619insTCC	ENST00000300061.2	+	13	1921_1922	c.1778_1779insTCC	c.(1777-1782)aatcca>aaTCCtcca	p.594_595insP	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	594					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCAGGACAATCCAGCCCTGG	0.609																																					p.N593delinsNP		Pindel	.											.	SCNN1G	82	.	0			c.1778_1779insTCC						PASS	.			0,4264		0,0,2132						4.3	0.8			103	3,8251		0,3,4124	no	coding	SCNN1G	NM_001039.3		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SO:0001652	inframe_insertion	6340	exon13			.	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1779_1781dupTCC	16.37:g.23226619_23226621dupTCC	ENSP00000300061:p.Pro594_Pro594dup	Somatic	91	.	.		WXS	Illumina HiSeq	Phase_I	94	36	0.383	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	In_Frame_Ins	INS	ENST00000300061.2	37	CCDS10608.1																																																																																			.	.	none		0.609	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		TCC	23226619	-	TCC	23226618	7	5	23	1	0	1	1	0	0	0	0	0	13930	101	4	0	1824	0	SCNN1G	16	23226618	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	25857	23226618	67128135	3682	20138										
GGA2	23062	hgsc.bcm.edu	37	chr16	23489711	23489711	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggcacggagctggctgtgCtgagaggaggtccagcaaat	17	8	0	1	rs1135045	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:23489711C>G	ENST00000309859.4	-	13	1352	c.1270G>C	c.(1270-1272)Gca>Cca	p.A424P	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	424	Unstructured hinge.		A -> P (in dbSNP:rs1135045). {ECO:0000269|PubMed:10747088, ECO:0000269|PubMed:10749927, ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:15489334}.		intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCTGGCTGTGCTGAGAGGAGG	0.582													G|||	3387	0.676318	0.5219	0.7233	5008	,	,		14776	0.6994		0.8111	False		,,,				2504	0.6892				p.A424P		Atlas-SNP	.											.	GGA2	49	.	0			c.G1270C						PASS	.	G	PRO/ALA	2551,1843	537.6+/-374.8	737,1077,383	101	91	94		1270	2.1	0.4	16	dbSNP_86	94	6935,1665	305.8+/-307.6	2788,1359,153	yes	missense	GGA2	NM_015044.4	27	3525,2436,536	GG,GC,CC		19.3605,41.9436,26.9971	benign	424/614	23489711	9486,3508	2197	4300	6497	SO:0001583	missense	23062	exon13			GCTGTGCTGAGAG	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1270G>C	16.37:g.23489711C>G	ENSP00000311962:p.Ala424Pro	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	1539	0.7046703296703297	268	0.5447154471544715	271	0.7486187845303868	387	0.6765734265734266	613	0.8087071240105541	G	0.886	-0.726950	0.03158	0.580564	0.806395	ENSG00000103365	ENST00000309859	T	0.14391	2.51	4.15	2.1	0.27182	.	1.378670	0.05287	N	0.520402	T	0.00012	0.0000	N	0.00197	-1.87	0.36496	P	0.13126899999999997	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	9	0.18276	T	0.48	-0.0054	6.2465	0.20820	0.1025:0.3645:0.533:0.0	rs1135045;rs2301623;rs3197517;rs11540712;rs17422742;rs17855999;rs1135045	424	Q9UJY4	GGA2_HUMAN	P	424	ENSP00000311962:A424P	ENSP00000311962:A424P	A	-	1	0	GGA2	23397212	0.926000	0.31397	0.449000	0.26957	0.013000	0.08279	0.670000	0.25157	0.139000	0.18822	-0.120000	0.15030	GCA	C|0.272;G|0.728	0.728	strong		0.582	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			G	23489711	C	G	23489711	3	3	23	1	0	0	0	0	1	0	0	0	6353	797	28	4	591	4	GGA2	16	23489711	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263093	23489711	66865042	3683	20139										
CACNG3	10368	hgsc.bcm.edu	37	chr16	24373047	24373047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttcaccctctcccgggacCcctcaaagatcaccatgggg	9	16	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:24373047C>T	ENST00000005284.3	+	4	2013	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	271					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTCCCGGGACCCCTCAAAGAT	0.567																																					p.P271S		Atlas-SNP	.											CACNG3,NS,carcinoma,-1,1	CACNG3	112	1	0			c.C811T						scavenged	.						105	113	110					16																	24373047		2197	4300	6497	SO:0001583	missense	10368	exon4			CGGGACCCCTCAA	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.811C>T	16.37:g.24373047C>T	ENSP00000005284:p.Pro271Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	137	2	0.0145985	NM_006539		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259053	0.59321	.	.	ENSG00000006116	ENST00000005284	T	0.56275	0.47	4.93	4.93	0.64822	.	0.056656	0.64402	D	0.000001	T	0.50514	0.1620	L	0.53249	1.67	0.58432	D	0.999999	P	0.44986	0.847	B	0.39185	0.293	T	0.59069	-0.7523	10	0.59425	D	0.04	-23.7516	17.8078	0.88607	0.0:1.0:0.0:0.0	.	271	O60359	CCG3_HUMAN	S	271	ENSP00000005284:P271S	ENSP00000005284:P271S	P	+	1	0	CACNG3	24280548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.228000	0.51270	2.266000	0.75297	0.645000	0.84053	CCC	.	.	none		0.567	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24373047	C	T	24373047	3	4	23	1	0	0	0	0	1	0	0	0	2558	623	22	2	825	2	CACNG3	16	24373047	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	883336	24373047	65981706	3684	20140										
TNRC6A	27327	hgsc.bcm.edu	37	chr16	24834233	24834233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcactctgtgcatgcagcaCggcccgctgatcacattcca	9	16	2	1	rs2303085	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:24834233C>T	ENST00000395799.3	+	24	5541	c.5412C>T	c.(5410-5412)caC>caT	p.H1804H	TNRC6A_ENST00000432286.2_Silent_p.H282H|TNRC6A_ENST00000315183.7_Silent_p.H1755H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1804	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H1804H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCATGCAGCACGGCCCGCTGA	0.557													c|||	1106	0.220847	0.1626	0.2637	5008	,	,		22656	0.4038		0.166	False		,,,				2504	0.137				p.H1804H		Atlas-SNP	.											TNRC6A,NS,carcinoma,0,1	TNRC6A	171	1	1	Substitution - coding silent(1)	stomach(1)	c.C5412T						PASS	.	C		692,3702	289.5+/-280.5	45,602,1550	124	101	109		5412	1.9	1	16	dbSNP_100	109	1175,7425	239.4+/-270.5	78,1019,3203	no	coding-synonymous	TNRC6A	NM_014494.2		123,1621,4753	TT,TC,CC		13.6628,15.7487,14.3682		1804/1963	24834233	1867,11127	2197	4300	6497	SO:0001819	synonymous_variant	27327	exon24			GCAGCACGGCCCG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5412C>T	16.37:g.24834233C>T		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	152	69	0.453947	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2	506	0.2316849816849817	63	0.12804878048780488	80	0.22099447513812154	230	0.4020979020979021	133	0.17546174142480211	c	9.384	1.073739	0.20147	0.157487	0.136628	ENSG00000090905	ENST00000450465	.	.	.	5.27	1.87	0.25490	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.44787	-0.9305	3	.	.	.	-6.083	7.3864	0.26884	0.0:0.4108:0.0:0.5892	rs2303085;rs57489138;rs2303085	.	.	.	W	695	.	.	R	+	1	2	TNRC6A	24741734	0.979000	0.34478	1.000000	0.80357	0.993000	0.82548	0.189000	0.17037	0.338000	0.23692	-0.310000	0.09108	CGG	C|0.816;T|0.184	0.184	strong		0.557	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24834233	C	T	24834233	2	4	23	1	0	0	0	0	0	0	0	1	16337	535	19	1		1	TNRC6A	16	24834233	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	461186	24834233	65520520	3685	20141										
ZKSCAN2	342357	hgsc.bcm.edu	37	chr16	25258336	25258336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagacttttgaacttggttCgacactgttctggggttcta	12	7	2	2	rs150756150		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:25258336C>T	ENST00000328086.7	-	5	1984	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	394					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAACTTGGTTCGACACTGTTC	0.478																																					p.R394Q		Atlas-SNP	.											ZKSCAN2,rectum,carcinoma,-1,1	ZKSCAN2	90	1	0			c.G1181A						scavenged	.	C	GLN/ARG	0,4394		0,0,2197	140	129	133		1181	5.8	1	16	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZKSCAN2	NM_001012981.4	43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	394/968	25258336	1,12993	2197	4300	6497	SO:0001583	missense	342357	exon5			TTGGTTCGACACT	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1181G>A	16.37:g.25258336C>T	ENSP00000331626:p.Arg394Gln	Somatic	357	1	0.00280112		WXS	Illumina HiSeq	Phase_I	401	5	0.0124688	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092979	0.94149	0.0	1.16E-4	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.47869	0.83	5.76	5.76	0.90799	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000019	T	0.69735	0.3144	M	0.78049	2.395	0.36406	D	0.863415	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.75900	-0.3154	10	0.59425	D	0.04	-24.0843	15.8146	0.78589	0.0:1.0:0.0:0.0	.	190;394;394	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	Q	394	ENSP00000331626:R394Q	ENSP00000331626:R394Q	R	-	2	0	ZKSCAN2	25165837	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.146000	0.42216	2.882000	0.98803	0.655000	0.94253	CGA	C|1.000;T|0.000	0.000	weak		0.478	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		T	25258336	C	T	25258336	3	4	23	1	0	0	0	0	1	0	0	0	17684	884	31	1	1734	1	ZKSCAN2	16	25258336	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	424103	25258336	65096417	3686	20142										
IL21R	50615	hgsc.bcm.edu	37	chr16	27460436	27460436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggcgggctcacccctggcCggcctggatatggacacgtt	15	13	1	0	rs3093408		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:27460436C>T	ENST00000337929.3	+	9	1922	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	IL21R_ENST00000395754.4_Silent_p.A483A|IL21R_ENST00000564089.1_Silent_p.A483A|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Silent_p.A483A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	483					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCCTGGCCGGCCTGGATA	0.672			T	BCL6	NHL								C|||	1	0.000199681	0.0	0.0014	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0				p.A505A		Atlas-SNP	.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R	95	.	0			c.C1515T						PASS	.	C	,,	0,4394		0,0,2197	41	38	39		1449,1449,1515	-7.6	0	16	dbSNP_103	39	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	,,	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	,,	483/539,483/539,505/561	27460436	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	50615	exon10			CCTGGCCGGCCTG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1449C>T	16.37:g.27460436C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	105	55	0.52381	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	CCDS10630.1																																																																																			C|0.999;T|0.001	0.001	strong		0.672	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		T	27460436	C	T	27460436	2	4	23	1	0	0	0	0	0	0	0	1	7671	639	23	1		1	IL21R	16	27460436	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2202100	27460436	62894317	3687	20143										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27761040	27761040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctccaacacggagctccCgggggacatcctggatgagc	12	14	1	1	rs61734902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:27761040C>T	ENST00000261588.4	+	16	2778	c.2759C>T	c.(2758-2760)cCg>cTg	p.P920L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	920						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGAGCTCCCGGGGGACATC	0.652													C|||	210	0.0419329	0.0076	0.0331	5008	,	,		17965	0.0536		0.0825	False		,,,				2504	0.0409				p.P920L		Atlas-SNP	.											.	KIAA0556	348	.	0			c.C2759T						PASS	.	C	LEU/PRO	80,4314	68.1+/-105.8	0,80,2117	46	45	45		2759	2.4	0.2	16	dbSNP_129	45	622,7978	157.6+/-211.2	29,564,3707	yes	missense	KIAA0556	NM_015202.2	98	29,644,5824	TT,TC,CC		7.2326,1.8207,5.4025	benign	920/1619	27761040	702,12292	2197	4300	6497	SO:0001583	missense	23247	exon16			AGCTCCCGGGGGA	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2759C>T	16.37:g.27761040C>T	ENSP00000261588:p.Pro920Leu	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	130	59	0.453846	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	92	0.04212454212454213	5	0.01016260162601626	10	0.027624309392265192	22	0.038461538461538464	55	0.07255936675461741	C	10.12	1.263013	0.23051	0.018207	0.072326	ENSG00000047578	ENST00000261588	T	0.09255	3.0	4.7	2.41	0.29592	.	0.286026	0.32901	N	0.005518	T	0.00384	0.0012	N	0.08118	0	0.39096	D	0.961187	P	0.36874	0.572	B	0.26864	0.074	T	0.52764	-0.8532	10	0.62326	D	0.03	-18.5382	11.5487	0.50708	0.7134:0.2866:0.0:0.0	rs61734902	920	O60303	K0556_HUMAN	L	920	ENSP00000261588:P920L	ENSP00000261588:P920L	P	+	2	0	KIAA0556	27668541	1.000000	0.71417	0.213000	0.23690	0.005000	0.04900	5.475000	0.66787	0.252000	0.21531	-1.014000	0.02459	CCG	C|0.951;T|0.049	0.049	strong		0.652	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27761040	C	T	27761040	3	4	23	1	0	0	0	0	1	0	0	0	8183	652	23	1	2821	1	KIAA0556	16	27761040	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	300604	27761040	62593713	3688	20144										
KIAA0556	23247	hgsc.bcm.edu	37	chr16	27784497	27784497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcctggagctgtatgacGagcgaggagaaaaaatcccc	13	11	0	2	rs117316062	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:27784497G>A	ENST00000261588.4	+	23	4295	c.4276G>A	c.(4276-4278)Gag>Aag	p.E1426K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1426						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCTGTATGACGAGCGAGGAGA	0.542													G|||	47	0.00938498	0.0	0.0231	5008	,	,		18339	0.0		0.0278	False		,,,				2504	0.0031				p.E1426K		Atlas-SNP	.											.	KIAA0556	348	.	0			c.G4276A						PASS	.	G	LYS/GLU	32,4362	38.4+/-70.7	1,30,2166	62	56	58		4276	4.9	0.3	16	dbSNP_132	58	253,8347	97.9+/-159.5	1,251,4048	yes	missense	KIAA0556	NM_015202.2	56	2,281,6214	AA,AG,GG		2.9419,0.7283,2.1933	benign	1426/1619	27784497	285,12709	2197	4300	6497	SO:0001583	missense	23247	exon23			TATGACGAGCGAG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4276G>A	16.37:g.27784497G>A	ENSP00000261588:p.Glu1426Lys	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	59	34	0.576271	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	27	0.012362637362637362	0	0.0	6	0.016574585635359115	0	0.0	21	0.027704485488126648	G	14.66	2.600602	0.46423	0.007283	0.029419	ENSG00000047578	ENST00000261588	T	0.13901	2.55	4.89	4.89	0.63831	.	0.064498	0.64402	D	0.000008	T	0.06600	0.0169	L	0.49350	1.555	0.44816	D	0.99782	P	0.45715	0.865	P	0.45639	0.488	T	0.02646	-1.1129	10	0.23302	T	0.38	-26.6329	17.6554	0.88176	0.0:0.0:1.0:0.0	.	1426	O60303	K0556_HUMAN	K	1426	ENSP00000261588:E1426K	ENSP00000261588:E1426K	E	+	1	0	KIAA0556	27691998	1.000000	0.71417	0.251000	0.24312	0.199000	0.23934	5.062000	0.64326	2.254000	0.74563	0.561000	0.74099	GAG	G|0.983;A|0.017	0.017	strong		0.542	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27784497	G	A	27784497	3	1	23	1	0	0	0	0	1	0	0	0	8183	1059	37	1	4366	1	KIAA0556	16	27784497	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23457	27784497	62570256	3689	20145										
CCDC101	112869	hgsc.bcm.edu	37	chr16	28602991	28602991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccctcaatgtggctcagagAtacgtggtggcttgtaagga	13	9	2	1	rs11401	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:28602991A>G	ENST00000317058.3	+	10	1033	c.846A>G	c.(844-846)agA>agG	p.R282R		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	282	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TGGCTCAGAGATACGTGGTGG	0.582													.|||	872	0.174121	0.1619	0.2017	5008	,	,		19643	0.2212		0.1571	False		,,,				2504	0.1401				p.R282R		Atlas-SNP	.											.	CCDC101	24	.	0			c.A846G						PASS	.	G		746,3648		59,628,1510	131	115	121		846	2.8	1	16	dbSNP_52	121	1497,7103		126,1245,2929	no	coding-synonymous	CCDC101	NM_138414.2		185,1873,4439	GG,GA,AA		17.407,16.9777,17.2618		282/294	28602991	2243,10751	2197	4300	6497	SO:0001819	synonymous_variant	112869	exon10			TCAGAGATACGTG	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.846A>G	16.37:g.28602991A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	90	44	0.488889	NM_138414	Q96MF5	Silent	SNP	ENST00000317058.3	37	CCDS10635.1																																																																																			A|0.832;G|0.168	0.168	strong		0.582	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		G	28602991	A	G	28602991	2	3	23	1	0	0	0	0	0	0	0	1	2735	330	12	2		2	CCDC101	16	28602991	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	818494	28602991	61751762	3690	20146										
CCDC101	112869	hgsc.bcm.edu	37	chr16	28603012	28603012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgtggtggcttgtaaggaAcccaagaaaaagtgatgccg	13	7	0	2	rs3194168	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:28603012A>G	ENST00000317058.3	+	10	1054	c.867A>G	c.(865-867)gaA>gaG	p.E289E		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	289	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTTGTAAGGAACCCAAGAAAA	0.552													.|||	388	0.077476	0.0794	0.1037	5008	,	,		19281	0.004		0.1233	False		,,,				2504	0.0849				p.E289E		Atlas-SNP	.											.	CCDC101	24	.	0			c.A867G						PASS	.	A		371,4023		14,343,1840	114	99	104		867	0.5	1	16	dbSNP_105	104	1140,7460		77,986,3237	no	coding-synonymous	CCDC101	NM_138414.2		91,1329,5077	GG,GA,AA		13.2558,8.4433,11.6284		289/294	28603012	1511,11483	2197	4300	6497	SO:0001819	synonymous_variant	112869	exon10			TAAGGAACCCAAG	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.867A>G	16.37:g.28603012A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	80	38	0.475	NM_138414	Q96MF5	Silent	SNP	ENST00000317058.3	37	CCDS10635.1																																																																																			A|0.894;G|0.106	0.106	strong		0.552	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		G	28603012	A	G	28603012	2	3	23	1	0	0	0	0	0	0	0	1	2735	40	2	2		2	CCDC101	16	28603012	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21	28603012	61751741	3691	20147										
SULT1A2	6799	hgsc.bcm.edu	37	chr16	28607196	28607196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcaaagtacttgatgagcGggacccccttcacgtactcc	9	14	1	2	rs10797300	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:28607196G>A	ENST00000395630.1	-	2	406	c.56C>T	c.(55-57)cCg>cTg	p.P19L	SULT1A2_ENST00000533150.1_Missense_Mutation_p.P19L|SULT1A2_ENST00000335715.4_Missense_Mutation_p.P19L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	19			P -> L (in dbSNP:rs10797300). {ECO:0000269|PubMed:7581483}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTTGATGAGCGGGACCCCCTT	0.627													.|||	369	0.0736821	0.0666	0.1009	5008	,	,		17319	0.004		0.1233	False		,,,				2504	0.0849				p.P19L		Atlas-SNP	.											.	SULT1A2	27	.	0			c.C56T						PASS	.	G	LEU/PRO,LEU/PRO	336,4058	162.2+/-194.2	27,282,1888	32	32	32		56,56	4.4	1	16	dbSNP_120	32	1190,7404	216.0+/-255.2	134,922,3241	no	missense,missense	SULT1A2	NM_001054.3,NM_177528.2	98,98	161,1204,5129	AA,AG,GG		13.8469,7.6468,11.7493	probably-damaging,probably-damaging	19/296,19/296	28607196	1526,11462	2197	4297	6494	SO:0001583	missense	6799	exon2			ATGAGCGGGACCC	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.56C>T	16.37:g.28607196G>A	ENSP00000378992:p.Pro19Leu	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	273	137	0.501832	NM_001054	A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	CCDS10636.1	171	0.0782967032967033	40	0.08130081300813008	43	0.11878453038674033	4	0.006993006993006993	84	0.11081794195250659	g	14.47	2.543663	0.45280	0.076468	0.138469	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630;ENST00000526384	T;T;T;T	0.01560	4.77;4.77;4.77;4.77	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.00039	0.0001	M	0.69185	2.1	0.09310	P	0.99999051378	D	0.89917	1.0	D	0.97110	1.0	T	0.47749	-0.9093	9	0.06099	T	0.92	.	14.9093	0.70743	0.0:0.0:1.0:0.0	rs10797300	19	P50226	ST1A2_HUMAN	L	19	ENSP00000435271:P19L;ENSP00000338742:P19L;ENSP00000378992:P19L;ENSP00000435358:P19L	ENSP00000338742:P19L	P	-	2	0	SULT1A2	28514697	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	5.557000	0.67313	2.160000	0.67779	0.556000	0.70494	CCG	G|0.903;A|0.097	0.097	strong		0.627	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		A	28607196	G	A	28607196	3	1	23	1	0	0	0	0	1	0	0	0	15372	1116	39	1	859	1	SULT1A2	16	28607196	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4184	28607196	61747557	3692	20148										
ASPHD1	253982	hgsc.bcm.edu	37	chr16	29917177	29917177	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accccaacgtggcaggggctGagcgccaggccctcgacttt	13	15	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:29917177G>A	ENST00000308748.5	+	3	1384	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	ASPHD1_ENST00000483405.1_Missense_Mutation_p.E97K	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	378					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GGCAGGGGCTGAGCGCCAGGC	0.637																																					p.E378K		Atlas-SNP	.											.	ASPHD1	28	.	0			c.G1132A						PASS	.						70	60	64					16																	29917177		2197	4300	6497	SO:0001583	missense	253982	exon3			GGGGCTGAGCGCC	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1132G>A	16.37:g.29917177G>A	ENSP00000311447:p.Glu378Lys	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	99	56	0.565657	NM_181718	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897740	0.97081	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.59364	0.27;0.27	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.80177	0.4575	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.82938	-0.0209	10	0.87932	D	0	-22.1497	18.742	0.91777	0.0:0.0:1.0:0.0	.	378	Q5U4P2	ASPH1_HUMAN	K	378	ENSP00000388036:E378K;ENSP00000311447:E378K	ENSP00000311447:E378K	E	+	1	0	ASPHD1	29824678	1.000000	0.71417	0.923000	0.36655	0.980000	0.70556	9.149000	0.94659	2.728000	0.93425	0.655000	0.94253	GAG	.	.	none		0.637	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		A	29917177	G	A	29917177	3	1	23	1	0	0	0	0	1	0	0	0	1054	1291	45	2	1142	2	ASPHD1	16	29917177	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1309981	29917177	60437576	3693	20149										
YPEL3	83719	hgsc.bcm.edu	37	chr16	30106716	30106716	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccgggggcagtggccccaCgcggggagcggcccacgggg	22	14	0	0	rs184524218	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:30106716C>A	ENST00000398838.4	-	0	187				YPEL3_ENST00000563788.1_5'UTR|YPEL3_ENST00000398841.1_Missense_Mutation_p.V30L|YPEL3_ENST00000562641.1_Missense_Mutation_p.V30L|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000565479.1_Intron|YPEL3_ENST00000566595.1_5'UTR|YPEL3_ENST00000566134.1_5'UTR	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|lung(2)	3						AGTGGCCCCACGCGGGGAGCG	0.672													C|||	16	0.00319489	0.0	0.0014	5008	,	,		14972	0.0		0.0129	False		,,,				2504	0.002				p.V30L		Atlas-SNP	.											.	YPEL3	5	.	0			c.G88T						PASS	.	C	,LEU/VAL	6,3864		0,6,1929	23	26	25		,88	3.5	1	16		25	108,8124		0,108,4008	yes	utr-5,missense	YPEL3	NM_001145524.1,NM_031477.4	,32	0,114,5937	AA,AC,CC		1.312,0.155,0.942	,	,30/158	30106716	114,11988	1935	4116	6051	SO:0001623	5_prime_UTR_variant	83719	exon1			GCCCCACGCGGGG	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.-27G>T	16.37:g.30106716C>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	24	0.648649	NM_031477	Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Missense_Mutation	SNP	ENST00000398838.4	37	CCDS45459.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	C	13.01	2.110837	0.37242	0.00155	0.01312	ENSG00000090238	ENST00000398841	.	.	.	3.52	3.52	0.40303	.	0.000000	0.30109	N	0.010388	T	0.16128	0.0388	.	.	.	0.21627	N	0.999613	B	0.06786	0.001	B	0.06405	0.002	T	0.11591	-1.0581	8	0.10902	T	0.67	-5.6356	10.7694	0.46314	0.0:0.8051:0.1949:0.0	.	30	P61236-2	.	L	30	.	ENSP00000381821:V30L	V	-	1	0	YPEL3	30014217	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.998000	0.49465	1.811000	0.52892	0.561000	0.74099	GTG	C|0.995;A|0.005	0.005	strong		0.672	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		A	30106716	C	A	30106716	1	1	23	0	1	0	0	0	0	0	0	0	17488	536	19	4		4	YPEL3	16	30106716	5'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	189539	30106716	60248037	3694	20150										
SEPT1	1731	hgsc.bcm.edu	37	chr16	30393147	30393147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtcagcttcactttcacaCccccttcctcaatctctacg	5	17	5	0	rs34518080	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:30393147C>A	ENST00000571393.1	-	5	425	c.239G>T	c.(238-240)gGt>gTt	p.G80V	SEPT1_ENST00000605106.1_Missense_Mutation_p.G85V|SEPT1_ENST00000321367.3_Missense_Mutation_p.G127V|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	80	Septin-type G.		G -> V (in dbSNP:rs34518080).		cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CACTTTCACACCCCCTTCCTC	0.607													C|||	69	0.013778	0.0008	0.0159	5008	,	,		17801	0.002		0.0437	False		,,,				2504	0.0112				p.G127V		Atlas-SNP	.											.	SEPT1	34	.	0			c.G380T						PASS	.	C	,,VAL/GLY	27,4367	34.3+/-65.2	0,27,2170	149	132	138		,,239	5.1	0.8	16	dbSNP_126	138	338,8262	115.5+/-175.4	7,324,3969	yes	intron,intron,missense	SEPT1,ZNF48	NM_001214906.1,NM_001214907.1,NM_052838.4	,,109	7,351,6139	AA,AC,CC		3.9302,0.6145,2.809	,,probably-damaging	,,80/368	30393147	365,12629	2197	4300	6497	SO:0001583	missense	1731	exon5			TTCACACCCCCTT	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.239G>T	16.37:g.30393147C>A	ENSP00000460441:p.Gly80Val	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	128	125	0.976562	NM_052838	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37		39	0.017857142857142856	2	0.0040650406504065045	9	0.024861878453038673	1	0.0017482517482517483	27	0.03562005277044855	C	12.63	1.995467	0.35226	0.006145	0.039302	ENSG00000180096	ENST00000321367	.	.	.	5.06	5.06	0.68205	.	0.112623	0.39475	N	0.001348	T	0.59972	0.2233	M	0.85462	2.755	0.80722	D	1	D;P	0.89917	1.0;0.649	D;B	0.78314	0.991;0.355	T	0.78876	-0.2031	9	0.87932	D	0	.	17.5745	0.87944	0.0:1.0:0.0:0.0	rs34518080;rs34518080	127;80	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	V	80	.	ENSP00000324511:G80V	G	-	2	0	SEPT1	30300648	1.000000	0.71417	0.835000	0.33067	0.002000	0.02628	7.773000	0.85462	2.508000	0.84585	0.655000	0.94253	GGT	C|0.975;A|0.025	0.025	strong		0.607	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		A	30393147	C	A	30393147	3	1	23	1	0	0	0	0	1	0	0	0	14059	507	18	4	896	4	SEPT1	16	30393147	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	286431	30393147	59961606	3695	20151										
PRR14	78994	hgsc.bcm.edu	37	chr16	30666367	30666367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaccaagccgaccacggcCgcggcggcacactgtgggtg	14	16	0	0	rs3747481	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:30666367C>T	ENST00000542965.2	+	7	1532	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	PRR14_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Missense_Mutation_p.P359L			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481). {ECO:0000269|PubMed:15489334}.							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGACCACGGCCGCGGCGGCAC	0.706													C|||	1827	0.364816	0.438	0.2017	5008	,	,		12033	0.1062		0.2773	False		,,,				2504	0.7382				p.P359L		Atlas-SNP	.											.	PRR14	45	.	0			c.C1076T						PASS	.	C	LEU/PRO	1781,2607		360,1061,773	25	31	29		1076	4.4	1	16	dbSNP_107	29	2266,6326		306,1654,2336	yes	missense	PRR14	NM_024031.2	98	666,2715,3109	TT,TC,CC		26.3734,40.588,31.1787	probably-damaging	359/586	30666367	4047,8933	2194	4296	6490	SO:0001583	missense	78994	exon8			CACGGCCGCGGCG	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1076C>T	16.37:g.30666367C>T	ENSP00000441641:p.Pro359Leu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	24	10	0.416667	NM_024031	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	547	0.25045787545787546	211	0.42886178861788615	76	0.20994475138121546	49	0.08566433566433566	211	0.2783641160949868	C	17.54	3.414049	0.62511	0.40588	0.263734	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.62639	0.01;0.01	5.37	4.42	0.53409	.	0.646742	0.15365	N	0.266168	T	0.00012	0.0000	M	0.69823	2.125	0.25924	P	0.9830724	B	0.26041	0.14	B	0.23419	0.046	T	0.32719	-0.9896	9	0.49607	T	0.09	-5.2848	7.1976	0.25862	0.1676:0.7454:0.0:0.087	rs3747481;rs17845665;rs17858601;rs60779979;rs3747481	359	Q9BWN1	PRR14_HUMAN	L	332;359;359	ENSP00000300835:P359L;ENSP00000441641:P359L	ENSP00000287463:P332L	P	+	2	0	PRR14	30573868	0.756000	0.28383	0.953000	0.39169	0.994000	0.84299	1.134000	0.31442	1.257000	0.44085	0.563000	0.77884	CCG	C|0.701;T|0.299	0.299	strong		0.706	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		T	30666367	C	T	30666367	3	4	23	1	0	0	0	0	1	0	0	0	12586	652	23	1	1102	1	PRR14	16	30666367	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	273220	30666367	59688386	3696	20152										
SRCAP	10847	hgsc.bcm.edu	37	chr16	30732558	30732558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggacctcacggcctcccaCgccaaccttgtccctaaagc	8	18	1	0	rs149248373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:30732558C>A	ENST00000262518.4	+	21	3687	c.3302C>A	c.(3301-3303)aCg>aAg	p.T1101K	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.T1101K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1101	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGGCCTCCCACGCCAACCTTG	0.602													C|||	9	0.00179712	0.0	0.0014	5008	,	,		17448	0.0		0.006	False		,,,				2504	0.002				p.T1101K		Atlas-SNP	.											.	SRCAP	298	.	0			c.C3302A						PASS	.	C	LYS/THR	5,4389	9.9+/-24.2	0,5,2192	109	118	115		3302	4.4	0.9	16	dbSNP_134	115	75,8525	44.0+/-102.2	0,75,4225	yes	missense	SRCAP	NM_006662.2	78	0,80,6417	AA,AC,CC		0.8721,0.1138,0.6157	possibly-damaging	1101/3231	30732558	80,12914	2197	4300	6497	SO:0001583	missense	10847	exon21			CTCCCACGCCAAC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3302C>A	16.37:g.30732558C>A	ENSP00000262518:p.Thr1101Lys	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	127	60	0.472441	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	11.98	1.799401	0.31869	0.001138	0.008721	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91351	-2.83;-2.72	5.36	4.41	0.53225	.	.	.	.	.	T	0.75759	0.3893	N	0.14661	0.345	0.80722	D	1	P;P	0.38020	0.615;0.481	B;B	0.38954	0.286;0.149	T	0.74940	-0.3493	9	0.28530	T	0.3	-1.5386	7.321	0.26528	0.0:0.7419:0.17:0.0881	.	1101;1101	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	1101	ENSP00000262518:T1101K;ENSP00000378499:T1101K	ENSP00000262518:T1101K	T	+	2	0	SRCAP	30640059	0.102000	0.21896	0.924000	0.36721	0.955000	0.61496	1.191000	0.32138	1.499000	0.48617	0.557000	0.71058	ACG	C|0.996;A|0.004	0.004	strong		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30732558	C	A	30732558	3	1	23	1	0	0	0	0	1	0	0	0	15134	536	19	4	3376	4	SRCAP	16	30732558	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	66191	30732558	59622195	3697	20153										
ZNF668	79759	hgsc.bcm.edu	37	chr16	31072912	31072912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagccccgcccctgctgccGgggcggctgaactctcacct	11	20	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:31072912G>A	ENST00000538906.1	-	3	2121	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	ZNF668_ENST00000539836.3_Missense_Mutation_p.P469L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P446L|ZNF668_ENST00000300849.4_Missense_Mutation_p.P446L|ZNF668_ENST00000426488.2_Missense_Mutation_p.P469L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G34R|ZNF668_ENST00000535577.1_Missense_Mutation_p.P446L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCCTGCTGCCGGGGCGGCTGA	0.711																																					p.P469L	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.C1406T						PASS	.						32	40	37					16																	31072912		2194	4298	6492	SO:0001583	missense	79759	exon4			GCTGCCGGGGCGG		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1337C>T	16.37:g.31072912G>A	ENSP00000440149:p.Pro446Leu	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	20	9	0.45	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.02|11.02	1.515722|1.515722	0.27123|0.27123	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.08546	.|3.08;3.09;3.09;3.09;3.09	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.40302	.|N	.|0.001138	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.50708	.|0.648	T|T	0.51702|0.51702	-0.8672|-0.8672	6|10	0.87932|0.21540	D|T	0|0.41	-20.0419|-20.0419	14.9766|14.9766	0.71277|0.71277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|446	.|Q96K58	.|ZN668_HUMAN	R|L	34|469;446;446;446;446	.|ENSP00000442573:P469L;ENSP00000441349:P446L;ENSP00000440149:P446L;ENSP00000378434:P446L;ENSP00000300849:P446L	ENSP00000391989:G34R|ENSP00000300849:P446L	G|P	+|-	1|2	0|0	AC135050.1|ZNF668	30980413|30980413	0.837000|0.837000	0.29446|0.29446	0.637000|0.637000	0.29366|0.29366	0.430000|0.430000	0.31655|0.31655	1.657000|1.657000	0.37366|0.37366	2.531000|2.531000	0.85337|0.85337	0.462000|0.462000	0.41574|0.41574	GGG|CCG	.	.	none		0.711	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		A	31072912	G	A	31072912	3	1	23	1	0	0	0	0	1	0	0	0	18072	1116	39	1	526	1	ZNF668	16	31072912	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	340354	31072912	59281841	3698	20154										
ZNF646	9726	hgsc.bcm.edu	37	chr16	31090094	31090094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgctgtcactggctggcagGctggggccgctcacacatgc	14	13	2	0	rs78522165	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:31090094G>A	ENST00000394979.2	+	1	2872	c.2449G>A	c.(2449-2451)Gct>Act	p.A817T	ZNF646_ENST00000300850.5_Missense_Mutation_p.A817T			O15015	ZN646_HUMAN	zinc finger protein 646	817					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGCTGGCAGGCTGGGGCCGC	0.612													G|||	137	0.0273562	0.003	0.0504	5008	,	,		18187	0.0		0.0875	False		,,,				2504	0.0102				p.A817T		Atlas-SNP	.											.	ZNF646	133	.	0			c.G2449A						PASS	.	G	THR/ALA	58,4336	56.8+/-93.2	0,58,2139	70	71	71		2449	-0.9	0.4	16	dbSNP_131	71	619,7981	161.9+/-214.7	17,585,3698	yes	missense	ZNF646	NM_014699.3	58	17,643,5837	AA,AG,GG		7.1977,1.32,5.2101	benign	817/1833	31090094	677,12317	2197	4300	6497	SO:0001583	missense	9726	exon2			TGGCAGGCTGGGG	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2449G>A	16.37:g.31090094G>A	ENSP00000378429:p.Ala817Thr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	115	52	0.452174	NM_014699	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		88	0.040293040293040296	0	0.0	20	0.055248618784530384	0	0.0	68	0.08970976253298153	G	8.689	0.906916	0.17833	0.0132	0.071977	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08193	3.12;3.18	5.25	-0.882	0.10604	.	.	.	.	.	T	0.00178	0.0005	N	0.11560	0.145	0.20926	N	0.999823	B	0.13145	0.007	B	0.14578	0.011	T	0.47459	-0.9116	9	0.21014	T	0.42	-0.3298	4.8583	0.13570	0.4322:0.0:0.4244:0.1434	.	817	O15015-2	.	T	817	ENSP00000300850:A817T;ENSP00000378429:A817T	ENSP00000300850:A817T	A	+	1	0	ZNF646	30997595	0.001000	0.12720	0.433000	0.26760	0.101000	0.19017	-0.216000	0.09266	-0.019000	0.14055	0.563000	0.77884	GCT	A|0.052;C|0.000;G|0.948	0.052	strong		0.612	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31090094	G	A	31090094	3	1	23	1	0	0	0	0	1	0	0	0	18059	1203	42	2	2451	2	ZNF646	16	31090094	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17182	31090094	59264659	3699	20155										
ZNF646	9726	hgsc.bcm.edu	37	chr16	31091209	31091209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagagcccaggctggagacTgccgagaagggctgccagac	15	11	0	4	rs3751855	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:31091209T>C	ENST00000394979.2	+	1	3987	c.3564T>C	c.(3562-3564)acT>acC	p.T1188T	ZNF646_ENST00000300850.5_Silent_p.T1188T			O15015	ZN646_HUMAN	zinc finger protein 646	1188					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCTGGAGACTGCCGAGAAGG	0.612													C|||	2402	0.479633	0.652	0.4323	5008	,	,		16321	0.1121		0.3787	False		,,,				2504	0.7628				p.T1188T		Atlas-SNP	.											.	ZNF646	133	.	0			c.T3564C						PASS	.	C		2698,1696	496.5+/-363.6	844,1010,343	29	37	35		3564	-10.8	0	16	dbSNP_107	35	3119,5477	646.4+/-400.3	571,1977,1750	no	coding-synonymous	ZNF646	NM_014699.3		1415,2987,2093	CC,CT,TT		36.2843,38.5981,44.7806		1188/1833	31091209	5817,7173	2197	4298	6495	SO:0001819	synonymous_variant	9726	exon2			GGAGACTGCCGAG	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3564T>C	16.37:g.31091209T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	110	49	0.445455	NM_014699	Q8IVD8	Silent	SNP	ENST00000394979.2	37																																																																																				A|0.000;C|0.415;T|0.584	0.415	strong		0.612	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		C	31091209	T	C	31091209	2	2	23	1	0	0	0	0	0	0	0	1	18059	1567	55	3		3	ZNF646	16	31091209	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1115	31091209	59263544	3700	20156										
PRSS53	339105	hgsc.bcm.edu	37	chr16	31096164	31096164	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaggcaggtggtggtcagGatagggcaggcagaggggcc	20	7	2	1	rs7199949	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:31096164G>C	ENST00000280606.6	-	8	1369	c.1216C>G	c.(1216-1218)Cct>Gct	p.P406A		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	406	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						TGGTGGTCAGGATAGGGCAGG	0.692													C|||	2399	0.479034	0.652	0.4323	5008	,	,		17467	0.1121		0.3767	False		,,,				2504	0.7618				p.P406A		Atlas-SNP	.											PRSS53,NS,carcinoma,0,2	PRSS53	29	2	0			c.C1216G						scavenged	.	C	ALA/PRO	2270,1688		698,874,407	7	9	8		1216	-3	0	16	dbSNP_116	8	2881,5337		574,1733,1802	yes	missense	PRSS53	NM_001039503.2	27	1272,2607,2209	CC,CG,GG		35.0572,42.6478,42.3045	benign	406/554	31096164	5151,7025	1979	4109	6088	SO:0001583	missense	339105	exon8			GGTCAGGATAGGG		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.1216C>G	16.37:g.31096164G>C	ENSP00000280606:p.Pro406Ala	Somatic	401	4	0.00997506		WXS	Illumina HiSeq	Phase_I	337	171	0.507418	NM_001039503		Missense_Mutation	SNP	ENST00000280606.6	37	CCDS42153.1	771	0.35302197802197804	305	0.6199186991869918	140	0.3867403314917127	47	0.08216783216783216	279	0.36807387862796836	C	0.011	-1.734285	0.00687	0.573522	0.350572	ENSG00000151006	ENST00000280606	D	0.87334	-2.24	5.28	-3.03	0.05429	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.466390	0.15290	N	0.270185	T	0.00012	0.0000	N	0.02736	-0.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.02654	T	1	.	0.6908	0.00891	0.2112:0.3345:0.2057:0.2487	rs7199949;rs57732931;rs7199949	406	Q2L4Q9	PRS53_HUMAN	A	406	ENSP00000280606:P406A	ENSP00000280606:P406A	P	-	1	0	PRSS53	31003665	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	-0.533000	0.06157	-1.322000	0.02278	-0.225000	0.12378	CCT	G|0.648;C|0.352	0.352	strong		0.692	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		C	31096164	G	C	31096164	3	2	23	1	0	0	0	0	1	0	0	0	12632	1174	41	4	461	4	PRSS53	16	31096164	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4955	31096164	59258589	3701	20157										
ARMC5	79798	hgsc.bcm.edu	37	chr16	31476458	31476458	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taactctagatgcagccccgCgcccaggatctgggctggtc	12	14	2	1	rs11150624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:31476458C>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000457010.2_Missense_Mutation_p.A705V|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000408912.3_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGCAGCCCCGCGCCCAGGATC	0.622													C|||	1523	0.304113	0.0507	0.5735	5008	,	,		20389	0.4494		0.4463	False		,,,				2504	0.1595				p.A705V		Atlas-SNP	.											ARMC5_ENST00000457010,brain,glioma,0,1	ARMC5	94	1	0			c.C2114T						PASS	.	C	,VAL/ALA	443,3739		26,391,1674	49	55	53		,2114	-7.3	0	16	dbSNP_120	53	3593,4857		780,2033,1412	yes	intron,missense	ARMC5	NM_001105247.1,NM_024742.2	,64	806,2424,3086	TT,TC,CC		42.5207,10.593,31.9506	,	,705/726	31476458	4036,8596	2091	4225	6316	SO:0001627	intron_variant	79798	exon4			GCCCCGCGCCCAG	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+250C>T	16.37:g.31476458C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	152	69	0.453947	NM_024742	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	858	0.39285714285714285	28	0.056910569105691054	209	0.5773480662983426	277	0.48426573426573427	344	0.45382585751978893	C	8.087	0.773579	0.16051	0.10593	0.425207	ENSG00000140691	ENST00000457010	T	0.21543	2.0	3.63	-7.27	0.01461	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.20261	0.043	B	0.14578	0.011	T	0.45101	-0.9284	6	.	.	.	.	4.3423	0.11115	0.1614:0.4832:0.2508:0.1046	rs11150624;rs56855049;rs11150624	704	Q96C12-4	.	V	705	ENSP00000399561:A705V	.	A	+	2	0	ARMC5	31383959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.168000	0.03123	-1.705000	0.01406	-1.359000	0.01217	GCG	C|0.636;T|0.364	0.364	strong		0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31476458	C	T	31476458	1	4	23	0	1	0	0	0	0	0	0	0	954	768	27	1		1	ARMC5	16	31476458	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	380294	31476458	58878295	3702	20158										
ABCC11	85320	hgsc.bcm.edu	37	chr16	48226458	48226458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagagcttgttgtgcagggcCgtggatgccttcctcgtgac	14	10	0	2	rs144318062		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:48226458C>T	ENST00000394747.1	-	19	3028	c.2679G>A	c.(2677-2679)acG>acA	p.T893T	ABCC11_ENST00000356608.2_Silent_p.T893T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.T893T|ABCC11_ENST00000353782.5_Silent_p.T893T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	893	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGTGCAGGGCCGTGGATGCCT	0.552																																					p.T893T		Atlas-SNP	.											.	ABCC11	177	.	0			c.G2679A						PASS	.	C	,,	0,4402		0,0,2201	90	82	85		2679,2679,2679	-9.9	0	16	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	893/1383,893/1383,893/1345	48226458	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320	exon19			CAGGGCCGTGGAT	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2679G>A	16.37:g.48226458C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	141	116	0.822695	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			C|1.000;T|0.000	0.000	weak		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48226458	C	T	48226458	2	4	23	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48226458	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16750000	48226458	42128295	3703	20159										
NOD2	64127	hgsc.bcm.edu	37	chr16	50745583	50745583	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcttggcttcctggtgcgTgccaaaggtgtcgtgccagg	14	11	1	0	rs1861759	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:50745583T>G	ENST00000300589.2	+	4	1866	c.1761T>G	c.(1759-1761)cgT>cgG	p.R587R	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	587	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCCTGGTGCGTGCCAAAGGTG	0.587													T|||	1082	0.216054	0.1589	0.2723	5008	,	,		20038	0.0992		0.4165	False		,,,				2504	0.1677				p.R587R		Atlas-SNP	.											.	NOD2	118	.	0			c.T1761G						PASS	.	T		902,3494	346.2+/-308.9	73,756,1369	60	40	47		1761	-4.6	0.1	16	dbSNP_92	47	3462,5138	504.9+/-376.3	716,2030,1554	no	coding-synonymous	NOD2	NM_022162.1		789,2786,2923	GG,GT,TT		40.2558,20.5187,33.5796		587/1041	50745583	4364,8632	2198	4300	6498	SO:0001819	synonymous_variant	64127	exon4			GGTGCGTGCCAAA	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1761T>G	16.37:g.50745583T>G		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	89	86	0.966292	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	CCDS10746.1																																																																																			T|0.709;G|0.291	0.291	strong		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		G	50745583	T	G	50745583	2	3	23	1	0	0	0	0	0	0	0	1	10517	1683	59	5		5	NOD2	16	50745583	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2519125	50745583	39609170	3704	20160										
IRX6	79190	hgsc.bcm.edu	37	chr16	55362625	55362625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcagaagttactgctagCcaggaggcccgggggctccg	15	13	0	1	rs199714803		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:55362625C>T	ENST00000290552.7	+	5	2067	c.735C>T	c.(733-735)agC>agT	p.S245S	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	245					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTACTGCTAGCCAGGAGGCCC	0.582																																					p.S245S		Atlas-SNP	.											.	IRX6	66	.	0			c.C735T						PASS	.																																			SO:0001819	synonymous_variant	79190	exon5			TGCTAGCCAGGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.735C>T	16.37:g.55362625C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	42	36	0.857143	NM_024335	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																			C|0.999;T|0.001	0.001	weak		0.582	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55362625	C	T	55362625	2	4	23	1	0	0	0	0	0	0	0	1	7848	738	26	2		2	IRX6	16	55362625	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4617042	55362625	34992128	3705	20161										
LPCAT2	54947	hgsc.bcm.edu	37	chr16	55562466	55562466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagctgggttaccttctatGgtatctcgaaatgagaatgc	11	7	2	1	rs837550	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:55562466G>A	ENST00000262134.5	+	3	673	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	163			M -> I (in dbSNP:rs837550).		glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TACCTTCTATGGTATCTCGAA	0.383													G|||	2593	0.517772	0.3389	0.621	5008	,	,		15646	0.4296		0.6461	False		,,,				2504	0.6452				p.M163I		Atlas-SNP	.											.	LPCAT2	35	.	0			c.G489A						PASS	.	G	ILE/MET	1683,2713	510.8+/-367.6	297,1089,812	183	166	172		489	-3.8	0	16	dbSNP_86	172	5613,2987	665.5+/-402.3	1838,1937,525	yes	missense	LPCAT2	NM_017839.4	10	2135,3026,1337	AA,AG,GG		34.7326,38.2848,43.8596	benign	163/545	55562466	7296,5700	2198	4300	6498	SO:0001583	missense	54947	exon3			TTCTATGGTATCT	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.489G>A	16.37:g.55562466G>A	ENSP00000262134:p.Met163Ile	Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	418	71	0.169856	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	1137	0.5206043956043956	167	0.3394308943089431	217	0.5994475138121547	249	0.4353146853146853	504	0.6649076517150396	G	0.010	-1.747828	0.00669	0.382848	0.652674	ENSG00000087253	ENST00000262134	D	0.92911	-3.13	5.8	-3.8	0.04307	Phospholipid/glycerol acyltransferase (2);	0.588370	0.21304	N	0.076759	T	0.00012	0.0000	N	0.00894	-1.105	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.29458	-1.0011	9	0.02654	T	1	-8.4188	7.5195	0.27620	0.4753:0.0:0.3727:0.152	rs837550;rs1052664;rs3193118;rs52823221;rs57713681;rs837550	163	Q7L5N7	PCAT2_HUMAN	I	163	ENSP00000262134:M163I	ENSP00000262134:M163I	M	+	3	0	LPCAT2	54119967	0.003000	0.15002	0.006000	0.13384	0.272000	0.26649	-1.098000	0.03346	-0.392000	0.07751	-0.203000	0.12734	ATG	G|0.457;A|0.543	0.543	strong		0.383	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		A	55562466	G	A	55562466	3	1	23	1	0	0	0	0	1	0	0	0	8911	1348	47	2	499	2	LPCAT2	16	55562466	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	199841	55562466	34792287	3706	20162										
GNAO1	2775	hgsc.bcm.edu	37	chr16	56377748	56377748	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaacaagtcagcccacaaAgagatctacacccacgtcac	6	14	3	2	rs1799917	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:56377748A>G	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.K317K	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CAGCCCACAAAGAGATCTACA	0.562													G|||	2053	0.409944	0.6286	0.2435	5008	,	,		13508	0.2242		0.326	False		,,,				2504	0.5102				p.K317K		Atlas-SNP	.											.	GNAO1	95	.	0			c.A951G						PASS	.	G	,	2506,1890	541.3+/-375.7	701,1104,393	203	128	153		,951	4.4	1	16	dbSNP_89	153	2997,5603	664.4+/-402.2	532,1933,1835	no	intron,coding-synonymous	GNAO1	NM_020988.2,NM_138736.2	,	1233,3037,2228	GG,GA,AA		34.8488,42.9936,42.3438	,	,317/355	56377748	5503,7493	2198	4300	6498	SO:0001627	intron_variant	2775	exon8			CCACAAAGAGATC		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+6976A>G	16.37:g.56377748A>G		Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	120	99	0.825	NM_138736	P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	CCDS10756.1																																																																																			A|0.609;G|0.391	0.391	strong		0.562	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		G	56377748	A	G	56377748	1	3	23	0	1	0	0	0	0	0	0	0	6508	69	3	3		3	GNAO1	16	56377748	Intron	SNP	A	TCGA-GR-7353-01A-11D-2210-10	815282	56377748	33977005	3707	20163										
OGFOD1	55239	hgsc.bcm.edu	37	chr16	56485554	56485554	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagcggccagcggagcccggCccagcccgggtgggaaaaaa	16	13	0	0	rs11076155	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:56485554C>G	ENST00000566157.1	+	1	153	c.30C>G	c.(28-30)ggC>ggG	p.G10G	NUDT21_ENST00000300291.5_5'Flank|OGFOD1_ENST00000568397.1_Silent_p.G10G	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	10					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CGGAGCCCGGCCCAGCCCGGG	0.587													C|||	265	0.0529153	0.0015	0.049	5008	,	,		15751	0.0724		0.0835	False		,,,				2504	0.0736				p.G10G		Atlas-SNP	.											.	OGFOD1	31	.	0			c.C30G						PASS	.	C		75,4321	54.9+/-90.9	0,75,2123	72	87	82		30	1.1	0	16	dbSNP_120	82	597,8003	144.0+/-200.0	18,561,3721	no	coding-synonymous	OGFOD1	NM_018233.3		18,636,5844	GG,GC,CC		6.9419,1.7061,5.1708		10/543	56485554	672,12324	2198	4300	6498	SO:0001819	synonymous_variant	55239	exon1			GCCCGGCCCAGCC	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.30C>G	16.37:g.56485554C>G		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	34	7	0.205882	NM_018233	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Silent	SNP	ENST00000566157.1	37	CCDS10761.2																																																																																			C|0.948;G|0.052	0.052	strong		0.587	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		G	56485554	C	G	56485554	2	3	23	1	0	0	0	0	0	0	0	1	10841	726	26	4		4	OGFOD1	16	56485554	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	107806	56485554	33869199	3708	20164										
NUP93	9688	hgsc.bcm.edu	37	chr16	56873495	56873495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggaagagagagtggctgcCttcagaaatttcagtgatga	14	5	2	5	rs1138295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:56873495C>T	ENST00000308159.5	+	20	2320	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	NUP93_ENST00000569842.1_Silent_p.A733A|NUP93_ENST00000564887.1_Silent_p.A610A|NUP93_ENST00000542526.1_Silent_p.A610A	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	733					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGTGGCTGCCTTCAGAAATT	0.448													C|||	1055	0.210663	0.2126	0.2305	5008	,	,		17354	0.3075		0.1501	False		,,,				2504	0.1564				p.A733A	Colon(33;610 796 1305 1705 38917)	Atlas-SNP	.											.	NUP93	75	.	0			c.C2199T						PASS	.	C	,,	838,3558	310.0+/-291.3	85,668,1445	113	108	110		1830,1830,2199	5.9	1	16	dbSNP_86	110	1330,7270	235.6+/-268.1	107,1116,3077	no	coding-synonymous,coding-synonymous,coding-synonymous	NUP93	NM_001242795.1,NM_001242796.1,NM_014669.4	,,	192,1784,4522	TT,TC,CC		15.4651,19.0628,16.6821	,,	610/697,610/697,733/820	56873495	2168,10828	2198	4300	6498	SO:0001819	synonymous_variant	9688	exon20			GGCTGCCTTCAGA	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2199C>T	16.37:g.56873495C>T		Somatic	301	1	0.00332226		WXS	Illumina HiSeq	Phase_I	254	201	0.791339	NM_014669	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																			C|0.811;T|0.189	0.189	strong		0.448	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		T	56873495	C	T	56873495	2	4	23	1	0	0	0	0	0	0	0	1	10772	668	24	2		2	NUP93	16	56873495	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	387941	56873495	33481258	3709	20165										
SLC12A3	6559	hgsc.bcm.edu	37	chr16	56919235	56919235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacctggccctcagctactcGgtgggcctcaatgaggtgga	13	12	2	1	rs5802	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:56919235G>A	ENST00000563236.1	+	15	1909	c.1884G>A	c.(1882-1884)tcG>tcA	p.S628S	SLC12A3_ENST00000262502.5_Silent_p.S627S|SLC12A3_ENST00000438926.2_Silent_p.S628S|SLC12A3_ENST00000566786.1_Silent_p.S627S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	628					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAGCTACTCGGTGGGCCTCA	0.617													G|||	322	0.0642971	0.034	0.072	5008	,	,		19220	0.0437		0.1133	False		,,,				2504	0.0706				p.S628S		Atlas-SNP	.											.	SLC12A3	99	.	0			c.G1884A						PASS	.	G	,,	155,4161		6,143,2009	73	59	64		1884,1881,1884	-10.8	0	16	dbSNP_52	64	744,7734		23,698,3518	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	29,841,5527	AA,AG,GG		8.7757,3.5913,7.0267	,,	628/1031,627/1030,628/1022	56919235	899,11895	2158	4239	6397	SO:0001819	synonymous_variant	6559	exon15			CTACTCGGTGGGC		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1884G>A	16.37:g.56919235G>A		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	69	57	0.826087	NM_001126108	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																			A|0.069;C|0.000;G|0.931	0.069	strong		0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			A	56919235	G	A	56919235	2	1	23	1	0	0	0	0	0	0	0	1	14384	1103	39	1		1	SLC12A3	16	56919235	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	45740	56919235	33435518	3710	20166										
SLC12A3	6559	hgsc.bcm.edu	37	chr16	56933519	56933519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacatcaaccagaaccctcGggctgagcagtaagttctgt	10	11	2	3	rs11643718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:56933519G>A	ENST00000563236.1	+	23	2736	c.2711G>A	c.(2710-2712)cGg>cAg	p.R904Q	SLC12A3_ENST00000262502.5_Missense_Mutation_p.R903Q|SLC12A3_ENST00000438926.2_Missense_Mutation_p.R913Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.R912Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	904			R -> Q (in dbSNP:rs11643718). {ECO:0000269|PubMed:10988270, ECO:0000269|PubMed:12112667, ECO:0000269|PubMed:17885550, ECO:0000269|PubMed:9734597}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CAGAACCCTCGGGCTGAGCAG	0.547													G|||	400	0.0798722	0.0061	0.1369	5008	,	,		20913	0.0744		0.1392	False		,,,				2504	0.0838				p.R913Q		Atlas-SNP	.											SLC12A3,NS,carcinoma,+1,1	SLC12A3	99	1	0			c.G2738A	GRCh37	CM981835	SLC12A3	M	rs11643718	PASS	.	G	GLN/ARG,GLN/ARG,GLN/ARG	95,4301	76.2+/-114.5	1,93,2104	116	107	110		2738,2735,2711	1.7	0.2	16	dbSNP_120	110	894,7706	202.1+/-245.5	42,810,3448	yes	missense,missense,missense	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	43,43,43	43,903,5552	AA,AG,GG		10.3953,2.1611,7.61	benign,benign,benign	913/1031,912/1030,904/1022	56933519	989,12007	2198	4300	6498	SO:0001583	missense	6559	exon23			ACCCTCGGGCTGA		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2711G>A	16.37:g.56933519G>A	ENSP00000456149:p.Arg904Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	101	80	0.792079	NM_000339	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	203	0.09294871794871795	0	0.0	60	0.16574585635359115	50	0.08741258741258741	93	0.12269129287598944	G	3.616	-0.078648	0.07141	0.021611	0.103953	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.9	1.7	0.24286	.	0.307617	0.36591	N	0.002511	T	0.00039	0.0001	N	0.02129	-0.67	0.43065	P	0.005303999999999975	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.30909	-0.9962	8	0.02654	T	1	.	8.3737	0.32430	0.2824:0.0:0.7176:0.0	rs11643718;rs17360804;rs52810200;rs61353958;rs11643718	912;904;913	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Q	912;913	.	ENSP00000262502:R913Q	R	+	2	0	SLC12A3	55491020	0.961000	0.32948	0.158000	0.22627	0.787000	0.44495	1.550000	0.36223	0.079000	0.16929	0.561000	0.74099	CGG	G|0.914;A|0.086	0.086	strong		0.547	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			A	56933519	G	A	56933519	3	1	23	1	0	0	0	0	1	0	0	0	14384	1116	39	1	2828	1	SLC12A3	16	56933519	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14284	56933519	33421234	3711	20167										
RSPRY1	89970	hgsc.bcm.edu	37	chr16	57261339	57261339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacaatgccagaagtaagcCtcacatacacccatgctgga	8	12	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57261339C>T	ENST00000537866.1	+	11	2120	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P416L|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	416	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGAAGTAAGCCTCACATACAC	0.433																																					p.P416L		Atlas-SNP	.											RSPRY1,colon,carcinoma,-1,2	RSPRY1	49	2	0			c.C1247T						scavenged	.						121	104	109					16																	57261339		2198	4300	6498	SO:0001583	missense	89970	exon11			GTAAGCCTCACAT	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1247C>T	16.37:g.57261339C>T	ENSP00000443176:p.Pro416Leu	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	164	3	0.0182927	NM_133368	Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170621	0.94807	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.69306	-0.39;-0.39	6.16	6.16	0.99307	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.72894	2.215	0.80722	D	1	P	0.45986	0.87	P	0.48166	0.569	T	0.75969	-0.3130	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	416	Q96DX4	RSPRY_HUMAN	L	416	ENSP00000377942:P416L;ENSP00000443176:P416L	ENSP00000377942:P416L	P	+	2	0	RSPRY1	55818840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCT	.	.	none		0.433	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		T	57261339	C	T	57261339	3	4	23	1	0	0	0	0	1	0	0	0	13713	681	24	2	1285	2	RSPRY1	16	57261339	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	327820	57261339	33093414	3712	20168										
CIAPIN1	57019	hgsc.bcm.edu	37	chr16	57464236	57464236	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctctttttccagttcttcGgcaaggccacaggtgctgcg	10	12	2	0	rs170358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57464236G>A	ENST00000565961.1	-	6	684	c.565C>T	c.(565-567)Cga>Tga	p.R189*	CIAPIN1_ENST00000568940.1_Nonsense_Mutation_p.R216*|CIAPIN1_ENST00000569370.1_Nonsense_Mutation_p.R216*|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000569979.1_Intron|CIAPIN1_ENST00000394391.4_Silent_p.A254A|CIAPIN1_ENST00000567518.1_Silent_p.A241A					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCAGTTCTTCGGCAAGGCCAC	0.448													G|||	107	0.0213658	0.0257	0.0216	5008	,	,		21458	0.002		0.0398	False		,,,				2504	0.0164				p.A254A		Atlas-SNP	.											CIAPIN1,colon,carcinoma,-1,1	CIAPIN1	17	1	0			c.C762T						PASS	.	G		106,3730		0,106,1812	108	99	102		762	-5.4	0.9	16	dbSNP_79	102	284,8008		5,274,3867	no	coding-synonymous	CIAPIN1	NM_020313.2		5,380,5679	AA,AG,GG		3.425,2.7633,3.2157		254/313	57464236	390,11738	1918	4146	6064	SO:0001587	stop_gained	57019	exon8			TTCTTCGGCAAGG	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000565961.1:c.565C>T	16.37:g.57464236G>A	ENSP00000455309:p.Arg189*	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	97	82	0.845361	NM_020313		Silent	SNP	ENST00000565961.1	37																																																																																				G|0.978;A|0.022	0.022	strong		0.448	CIAPIN1-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000431014.1	NM_020313		A	57464236	G	A	57464236	4	1	23	1	0	0	0	0	0	1	0	0	3419	1103	39	1	184	1	CIAPIN1	16	57464236	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	202897	57464236	32890517	3713	20169										
COQ9	57017	hgsc.bcm.edu	37	chr16	57484980	57484980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccgacaagccctggtgccGcgtgccttccatgcttcagc	11	16	1	0	rs223864	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57484980G>A	ENST00000262507.6	+	2	171	c.102G>A	c.(100-102)ccG>ccA	p.P34P	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Silent_p.P34P|COQ9_ENST00000567072.1_Silent_p.P34P	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	34					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCCTGGTGCCGCGTGCCTTCC	0.547													G|||	102	0.0203674	0.0227	0.0216	5008	,	,		18047	0.002		0.0398	False		,,,				2504	0.0153				p.P34P		Atlas-SNP	.											.	COQ9	30	.	0			c.G102A						PASS	.	G		111,4285	86.3+/-125.0	1,109,2088	60	52	55		102	-1.9	0.3	16	dbSNP_79	55	299,8301	108.4+/-169.1	5,289,4006	no	coding-synonymous	COQ9	NM_020312.3		6,398,6094	AA,AG,GG		3.4767,2.525,3.1548		34/319	57484980	410,12586	2198	4300	6498	SO:0001819	synonymous_variant	57017	exon2			GGTGCCGCGTGCC	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.102G>A	16.37:g.57484980G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	98	86	0.877551	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Silent	SNP	ENST00000262507.6	37	CCDS32459.1																																																																																			G|0.973;A|0.027	0.027	strong		0.547	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		A	57484980	G	A	57484980	2	1	23	1	0	0	0	0	0	0	0	1	3751	1074	38	1		1	COQ9	16	57484980	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20744	57484980	32869773	3714	20170										
COQ9	57017	hgsc.bcm.edu	37	chr16	57490480	57490480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcagtgagctaatactgcAttttgtgacccagtgcaata	10	8	0	2	rs191446011		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57490480A>C	ENST00000262507.6	+	4	512	c.443A>C	c.(442-444)cAt>cCt	p.H148P	COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Missense_Mutation_p.H148P	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	148					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTAATACTGCATTTTGTGACC	0.532													A|||	1	0.000199681	0.0	0.0	5008	,	,		22372	0.0		0.001	False		,,,				2504	0.0				p.H148P		Atlas-SNP	.											.	COQ9	30	.	0			c.A443C						PASS	.	A	PRO/HIS	0,4396		0,0,2198	143	123	130		443	5.6	1	16		130	2,8598	2.2+/-6.3	0,2,4298	no	missense	COQ9	NM_020312.3	77	0,2,6496	CC,CA,AA		0.0233,0.0,0.0154	probably-damaging	148/319	57490480	2,12994	2198	4300	6498	SO:0001583	missense	57017	exon4			TACTGCATTTTGT	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.443A>C	16.37:g.57490480A>C	ENSP00000262507:p.His148Pro	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	175	24	0.137143	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	CCDS32459.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	23.2	4.387434	0.82902	0.0	2.33E-4	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.88450	2.955	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;0.996;0.998;0.998	D	0.86577	0.1851	9	0.54805	T	0.06	-11.6483	14.9239	0.70862	1.0:0.0:0.0:0.0	.	148;148;148;148	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	P	148	.	ENSP00000262507:H148P	H	+	2	0	COQ9	56047981	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.700000	0.91322	2.117000	0.64856	0.460000	0.39030	CAT	A|1.000;C|0.000	0.000	strong		0.532	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		C	57490480	A	C	57490480	3	2	23	1	0	0	0	0	1	0	0	0	3751	217	8	5	457	5	COQ9	16	57490480	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5500	57490480	32864273	3715	20171										
GPR97	222487	hgsc.bcm.edu	37	chr16	57707249	57707249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaggtcaggaaaagcccacCgaagggccaagaaacacctg	11	11	1	1	rs73552781	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57707249C>T	ENST00000333493.4	+	2	236	c.75C>T	c.(73-75)acC>acT	p.T25T	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	25					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAAAGCCCACCGAAGGGCCAA	0.547													C|||	176	0.0351438	0.087	0.0187	5008	,	,		21297	0.001		0.0378	False		,,,				2504	0.0092				p.T25T		Atlas-SNP	.											.	GPR97	74	.	0			c.C75T						PASS	.	C		375,4021	190.5+/-216.4	14,347,1837	82	74	77		75	-6.8	0	16	dbSNP_130	77	318,8282	113.1+/-173.2	10,298,3992	no	coding-synonymous	GPR97	NM_170776.4		24,645,5829	TT,TC,CC		3.6977,8.5305,5.3324		25/550	57707249	693,12303	2198	4300	6498	SO:0001819	synonymous_variant	222487	exon2			GCCCACCGAAGGG	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.75C>T	16.37:g.57707249C>T		Somatic	193	1	0.00518135		WXS	Illumina HiSeq	Phase_I	193	170	0.880829	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			C|0.957;T|0.043	0.043	strong		0.547	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57707249	C	T	57707249	2	4	23	1	0	0	0	0	0	0	0	1	6720	639	23	1		1	GPR97	16	57707249	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	216769	57707249	32647504	3716	20172										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57732012	57732012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaagcaggagacgctcagaGacctggagaagaagctgtca	13	8	2	4	rs55645458	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57732012G>A	ENST00000360716.3	+	3	372	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D51N|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.D51N			Q8IY82	CC135_HUMAN		51			D -> N (in dbSNP:rs55645458).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACGCTCAGAGACCTGGAGAA	0.607													g|||	54	0.0107827	0.0	0.0072	5008	,	,		18158	0.0		0.0398	False		,,,				2504	0.0092				p.D51N		Atlas-SNP	.											.	CCDC135	97	.	0			c.G151A						PASS	.	G	ASN/ASP	47,4349	50.2+/-85.5	0,47,2151	100	91	94		151	4.2	1	16	dbSNP_129	94	422,8178	130.8+/-188.7	10,402,3888	yes	missense	CCDC135	NM_032269.5	23	10,449,6039	AA,AG,GG		4.907,1.0692,3.6088	possibly-damaging	51/875	57732012	469,12527	2198	4300	6498	SO:0001583	missense	84229	exon2			CTCAGAGACCTGG																												ENST00000360716.3:c.151G>A	16.37:g.57732012G>A	ENSP00000353942:p.Asp51Asn	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	106	18	0.169811	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	35	0.016025641025641024	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	32	0.04221635883905013	G	15.87	2.961520	0.53400	0.010692	0.04907	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10573	3.1;2.86;3.1	4.18	4.18	0.49190	.	0.477501	0.21157	N	0.079231	T	0.03434	0.0099	M	0.63843	1.955	0.32197	N	0.578329	D;D	0.59357	0.985;0.967	P;P	0.54270	0.747;0.718	T	0.00899	-1.1522	10	0.62326	D	0.03	-34.8223	12.3248	0.55005	0.0:0.0:1.0:0.0	rs55645458	51;51	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	51	ENSP00000377869:D51N;ENSP00000338938:D51N;ENSP00000353942:D51N	ENSP00000338938:D51N	D	+	1	0	CCDC135	56289513	0.994000	0.37717	0.997000	0.53966	0.030000	0.12068	2.049000	0.41288	2.613000	0.88420	0.549000	0.68633	GAC	G|0.971;A|0.029	0.029	strong		0.607	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57732012	G	A	57732012	3	1	23	1	0	0	0	0	1	0	0	0	2769	942	33	2	153	2	CCDC135	16	57732012	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24763	57732012	32622741	3717	20173										
CCDC135	84229	hgsc.bcm.edu	37	chr16	57758732	57758732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgagcagtgcagagtcaaaCccccggcccattgtggtaag	12	12	1	2	rs2923144	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57758732C>A	ENST00000360716.3	+	13	1964	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	CCDC135_ENST00000394337.4_Missense_Mutation_p.N581K|CCDC135_ENST00000336825.8_Missense_Mutation_p.N516K			Q8IY82	CC135_HUMAN		581			N -> K (in dbSNP:rs2923144).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGAGTCAAACCCCCGGCCCA	0.602													.|||	450	0.0898562	0.1815	0.0634	5008	,	,		18037	0.001		0.1004	False		,,,				2504	0.0654				p.N581K		Atlas-SNP	.											.	CCDC135	97	.	0			c.C1743A						PASS	.	C	LYS/ASN	725,3669		62,601,1534	47	41	43		1743	-0.1	0.9	16	dbSNP_101	43	842,7756		36,770,3493	yes	missense	CCDC135	NM_032269.5	94	98,1371,5027	AA,AC,CC		9.793,16.4998,12.0613	probably-damaging	581/875	57758732	1567,11425	2197	4299	6496	SO:0001583	missense	84229	exon12			GTCAAACCCCCGG																												ENST00000360716.3:c.1743C>A	16.37:g.57758732C>A	ENSP00000353942:p.Asn581Lys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	63	49	0.777778	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	173	0.07921245421245421	73	0.1483739837398374	26	0.0718232044198895	1	0.0017482517482517483	73	0.09630606860158311	.	16.68	3.189813	0.57909	0.164998	0.09793	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.09445	3.14;2.98;3.14	5.2	-0.106	0.13596	.	0.296489	0.37715	N	0.001979	T	0.00109	0.0003	M	0.80183	2.485	0.24037	P	0.9960909	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.12167	-1.0558	9	0.18276	T	0.48	-47.579	9.4754	0.38869	0.0:0.6228:0.0:0.3772	rs2923144;rs52829900;rs59847143;rs2923144	516;581	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	581;516;581	ENSP00000377869:N581K;ENSP00000338938:N516K;ENSP00000353942:N581K	ENSP00000338938:N516K	N	+	3	2	CCDC135	56316233	0.251000	0.23961	0.949000	0.38748	0.883000	0.51084	-0.202000	0.09451	0.222000	0.20900	-0.218000	0.12543	AAC	C|0.891;A|0.109	0.109	strong		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57758732	C	A	57758732	3	1	23	1	0	0	0	0	1	0	0	0	2769	506	18	4	1785	4	CCDC135	16	57758732	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26720	57758732	32596021	3718	20174										
CNGB1	1258	hgsc.bcm.edu	37	chr16	57937788	57937788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgacgcggttctgcacggacTtggggatcttgtagaaattc	13	8	2	2	rs2303785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57937788T>C	ENST00000251102.8	-	27	2792	c.2732A>G	c.(2731-2733)aAg>aGg	p.K911R	CNGB1_ENST00000564448.1_Missense_Mutation_p.K905R	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	911			K -> R (in dbSNP:rs2303785).		cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTGCACGGACTTGGGGATCTT	0.587													T|||	386	0.0770767	0.0091	0.1441	5008	,	,		20179	0.0843		0.1203	False		,,,				2504	0.0695				p.K911R	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.A2732G						PASS	.	T	ARG/LYS	123,4069		0,123,1973	125	135	131		2732	1.5	1	16	dbSNP_100	131	922,7488		43,836,3326	yes	missense	CNGB1	NM_001297.4	26	43,959,5299	CC,CT,TT		10.9631,2.9342,8.2923	benign	911/1252	57937788	1045,11557	2096	4205	6301	SO:0001583	missense	1258	exon27			ACGGACTTGGGGA	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2732A>G	16.37:g.57937788T>C	ENSP00000251102:p.Lys911Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	174	145	0.833333	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	195	0.08928571428571429	2	0.0040650406504065045	50	0.13812154696132597	50	0.08741258741258741	93	0.12269129287598944	T	6.169	0.399308	0.11696	0.029342	0.109631	ENSG00000070729	ENST00000251102	D	0.96774	-4.12	4.82	1.45	0.22620	Cyclic nucleotide-binding-like (1);	0.194559	0.43579	N	0.000550	T	0.07954	0.0199	L	0.46157	1.445	0.09310	P	0.9999999887751	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.62101	-0.6925	9	0.07325	T	0.83	.	5.705	0.17903	0.0:0.6616:0.1562:0.1822	rs2303785;rs17240987;rs56435449;rs59336536;rs2303785	283;911	Q14028-2;Q14028	.;CNGB1_HUMAN	R	911	ENSP00000251102:K911R	ENSP00000251102:K911R	K	-	2	0	CNGB1	56495289	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.330000	0.07925	0.389000	0.25086	0.460000	0.39030	AAG	T|0.922;C|0.078	0.078	strong		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		C	57937788	T	C	57937788	3	2	23	1	0	0	0	0	1	0	0	0	3600	1609	56	3	1051	3	CNGB1	16	57937788	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	179056	57937788	32416965	3719	20175										
CNGB1	1258	hgsc.bcm.edu	37	chr16	57996932	57996932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcgggatcaccttctctacGcccttcatgagccaggtcag	10	14	4	1	rs17821448	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:57996932G>A	ENST00000251102.8	-	5	387	c.327C>T	c.(325-327)ggC>ggT	p.G109G	CNGB1_ENST00000311183.4_Silent_p.G109G|CNGB1_ENST00000564448.1_Silent_p.G109G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	109					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTTCTCTACGCCCTTCATGA	0.647													g|||	1573	0.314097	0.0552	0.304	5008	,	,		19314	0.3403		0.497	False		,,,				2504	0.456				p.G109G	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.C327T						PASS	.		,	491,3681		26,439,1621	90	85	87		327,327	-2.8	0	16	dbSNP_123	87	4124,4304		999,2126,1089	no	coding-synonymous,coding-synonymous	CNGB1	NM_001135639.1,NM_001297.4	,	1025,2565,2710	AA,AG,GG		48.9321,11.7689,36.627	,	109/300,109/1252	57996932	4615,7985	2086	4214	6300	SO:0001819	synonymous_variant	1258	exon5			CTCTACGCCCTTC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.327C>T	16.37:g.57996932G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	77	74	0.961039	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																			G|0.665;A|0.334	0.334	strong		0.647	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57996932	G	A	57996932	2	1	23	1	0	0	0	0	0	0	0	1	3600	1074	38	1		1	CNGB1	16	57996932	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	59144	57996932	32357821	3720	20176										
TEPP	374739	hgsc.bcm.edu	37	chr16	58019396	58019396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgcctcagtactgcctcaGccagaaccccagcctggacc	8	20	2	1	rs9934227	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:58019396G>A	ENST00000441824.2	+	6	735	c.698G>A	c.(697-699)aGc>aAc	p.S233N	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Missense_Mutation_p.S260N	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	233				S -> N (in Ref. 1; AAR18688/AAR18689 and 3; AAI04459/AAI04460). {ECO:0000305}.		extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TACTGCCTCAGCCAGAACCCC	0.682													A|||	3924	0.783546	0.9486	0.585	5008	,	,		12536	0.5595		0.8559	False		,,,				2504	0.8579				p.S260N		Atlas-SNP	.											.	TEPP	30	.	0			c.G779A						PASS	.	A	ASN/SER,ASN/SER	4117,279	151.4+/-185.3	1931,255,12	48	49	48		779,698	1.5	1	16	dbSNP_119	48	7296,1304	251.8+/-278.1	3092,1112,96	yes	missense,missense	TEPP	NM_199046.2,NM_199456.2	46,46	5023,1367,108	AA,AG,GG		15.1628,6.3467,12.1807	benign,benign	260/299,233/272	58019396	11413,1583	2198	4300	6498	SO:0001583	missense	374739	exon6			GCCTCAGCCAGAA	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.698G>A	16.37:g.58019396G>A	ENSP00000401917:p.Ser233Asn	Somatic	253	1	0.00395257		WXS	Illumina HiSeq	Phase_I	214	212	0.990654	NM_199046	Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	CCDS45496.1	1679	0.7687728937728938	467	0.9491869918699187	244	0.6740331491712708	318	0.5559440559440559	650	0.8575197889182058	A	4.918	0.170667	0.09391	0.936533	0.848372	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.40756	1.08;1.02	5.1	1.54	0.23209	.	0.169343	0.40728	N	0.001030	T	0.00012	0.0000	N	0.00034	-2.56	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34650	-0.9820	9	0.02654	T	1	-19.9726	7.8965	0.29710	0.6453:0.0:0.3547:0.0	rs9934227;rs58628736;rs9934227	233;260	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	N	260;233	ENSP00000290871:S260N;ENSP00000401917:S233N	ENSP00000290871:S260N	S	+	2	0	TEPP	56576897	0.997000	0.39634	0.997000	0.53966	0.852000	0.48524	0.593000	0.23999	0.085000	0.17107	-0.442000	0.05670	AGC	G|0.164;A|0.836	0.836	strong		0.682	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		A	58019396	G	A	58019396	3	1	23	1	0	0	0	0	1	0	0	0	15757	971	34	2	801	2	TEPP	16	58019396	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	22464	58019396	32335357	3721	20177										
C16orf57	57567	hgsc.bcm.edu	37	chr16	58035429	58035429	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctacagcagcagcggctcCgaggatgagtccgaggacgg	17	11	0	1	rs3743559	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:58035429C>A	ENST00000299237.2	-	0	0				USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Silent_p.S14S|USB1_ENST00000561743.1_Intron|USB1_ENST00000563149.1_Silent_p.S14S|USB1_ENST00000539737.2_Silent_p.S14S|USB1_ENST00000219281.3_Silent_p.S14S	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCAGCGGCTCCGAGGATGAGT	0.692											OREG0023837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	307	0.0613019	0.0061	0.0548	5008	,	,		11852	0.0823		0.0845	False		,,,				2504	0.0951				p.S14S		Atlas-SNP	.											.	.	.	.	0			c.C42A						PASS	.	C	,,	72,4290		0,72,2109	14	17	16		42,42,42	-9.8	0.5	16	dbSNP_107	16	699,7891		30,639,3626	no	coding-synonymous,coding-synonymous,coding-synonymous	C16orf57	NM_001195302.1,NM_001204911.1,NM_024598.3	,,	30,711,5735	AA,AC,CC		8.1374,1.6506,5.9527	,,	14/248,14/187,14/266	58035429	771,12181	2181	4295	6476	SO:0001631	upstream_gene_variant	79650	exon1			CGGCTCCGAGGAT	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9			16.37:g.58035429C>A	Exception_encountered	Somatic	179	0	0	1027	WXS	Illumina HiSeq	Phase_I	184	166	0.902174	NM_024598	Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																			C|0.939;A|0.061	0.061	strong		0.692	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			A	58035429	C	A	58035429	1	1	23	0	1	0	0	0	0	0	0	0	1821	639	23	4		4	C16orf57	16	58035429	5'Flank	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16033	58035429	32319324	3722	20178										
C16orf57	79650	hgsc.bcm.edu	37	chr16	58054099	58054099	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgcgcgtgcacactgagCaagtccgctgcaagtctggg	14	12	1	1	rs16959641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:58054099C>G	ENST00000539737.2	+	6	773	c.694C>G	c.(694-696)Caa>Gaa	p.Q232E	USB1_ENST00000561743.1_Missense_Mutation_p.Q199E|USB1_ENST00000219281.3_Missense_Mutation_p.Q250E	NM_001195302.1	NP_001182231.1			U6 snRNA biogenesis 1																		GCACACTGAGCAAGTCCGCTG	0.562													C|||	301	0.0601038	0.0008	0.0533	5008	,	,		22174	0.0833		0.0855	False		,,,				2504	0.0951				p.Q250E		Atlas-SNP	.											.	.	.	.	0			c.C748G						PASS	.	C	GLU/GLN,GLU/GLN	58,4338	56.2+/-92.4	0,58,2140	151	116	128		694,748	5.6	0.9	16	dbSNP_123	128	719,7881	175.8+/-225.7	36,647,3617	yes	missense,missense	C16orf57	NM_001195302.1,NM_024598.3	29,29	36,705,5757	GG,GC,CC		8.3605,1.3194,5.9788	benign,benign	232/248,250/266	58054099	777,12219	2198	4300	6498	SO:0001583	missense	79650	exon7			ACTGAGCAAGTCC	AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"HVSL motif containing 1", "poikiloderma with neutropenia", "U six biogenesis 1", "mutated in poikiloderma with neutropenia protein 1"	613276	"chromosome 16 open reading frame 57"	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000539737.2:c.694C>G	16.37:g.58054099C>G	ENSP00000446143:p.Gln232Glu	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	248	201	0.810484	NM_024598		Missense_Mutation	SNP	ENST00000539737.2	37	CCDS55998.1	129	0.059065934065934064	1	0.0020325203252032522	18	0.049723756906077346	51	0.08916083916083917	59	0.07783641160949868	C	7.987	0.752377	0.15778	0.013194	0.083605	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737	T;T	0.51325	0.71;0.71	5.59	5.59	0.84812	.	0.104707	0.64402	D	0.000004	T	0.01061	0.0035	N	0.12831	0.26	0.09310	P	1.0	B;B	0.21225	0.053;0.051	B;B	0.21917	0.036;0.037	T	0.03945	-1.0990	9	0.02654	T	1	-20.0903	16.7251	0.85419	0.0:1.0:0.0:0.0	rs16959641;rs16959641	232;250	B4DZW5;Q9BQ65	.;CP057_HUMAN	E	250;198;232	ENSP00000219281:Q250E;ENSP00000446143:Q232E	ENSP00000219281:Q250E	Q	+	1	0	C16orf57	56611600	0.989000	0.36119	0.887000	0.34795	0.718000	0.41266	2.124000	0.42006	2.807000	0.96579	0.549000	0.68633	CAA	C|0.938;G|0.062	0.062	strong		0.562	USB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000429947.1	NM_024598		G	58054099	C	G	58054099	3	3	23	1	0	0	0	0	1	0	0	0	1821	711	25	4	774	4	C16orf57	16	58054099	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18670	58054099	32300654	3723	20179										
CNOT1	23019	hgsc.bcm.edu	37	chr16	58616984	58616984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggaatgccatctgttaaTcctgaatgagttcgagccat	9	8	1	2	rs17854029	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:58616984T>C	ENST00000317147.5	-	9	1241	c.909A>G	c.(907-909)ggA>ggG	p.G303G	CNOT1_ENST00000441024.2_Silent_p.G303G|CNOT1_ENST00000569240.1_Silent_p.G303G	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	303					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCTGTTAATCCTGAATGAG	0.393													T|||	1012	0.202077	0.1218	0.268	5008	,	,		19053	0.0288		0.4264	False		,,,				2504	0.2117				p.G303G		Atlas-SNP	.											CNOT1_ENST00000441024,NS,carcinoma,0,2	CNOT1	359	2	0			c.A909G						PASS	.	T	,	824,3572	326.7+/-299.7	79,666,1453	104	91	95		909,909	1.3	1	16	dbSNP_123	95	3863,4737	542.3+/-384.2	880,2103,1317	no	coding-synonymous,coding-synonymous	CNOT1	NM_016284.3,NM_206999.1	,	959,2769,2770	CC,CT,TT		44.9186,18.7443,36.0649	,	303/2377,303/1552	58616984	4687,8309	2198	4300	6498	SO:0001819	synonymous_variant	23019	exon9			TGTTAATCCTGAA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.909A>G	16.37:g.58616984T>C		Somatic	231	1	0.004329		WXS	Illumina HiSeq	Phase_I	209	209	1	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			T|0.709;C|0.291	0.291	strong		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58616984	T	C	58616984	2	2	23	1	0	0	0	0	0	0	0	1	3617	1422	50	2		2	CNOT1	16	58616984	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	562885	58616984	31737769	3724	20180										
GOT2	2806	hgsc.bcm.edu	37	chr16	58750604	58750604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggcatatgattggcagagGcaaacattaatgccctgttc	10	8	0	2	rs1058192	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:58750604G>A	ENST00000245206.5	-	7	944	c.816C>T	c.(814-816)tgC>tgT	p.C272C	GOT2_ENST00000434819.2_Silent_p.C229C|GOT2_ENST00000564400.1_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	272					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.C272C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ATTGGCAGAGGCAAACATTAA	0.502													A|||	3607	0.720248	0.8896	0.7738	5008	,	,		20689	0.6478		0.67	False		,,,				2504	0.5798				p.C272C		Atlas-SNP	.											GOT2,NS,carcinoma,0,1	GOT2	42	1	1	Substitution - coding silent(1)	prostate(1)	c.C816T						PASS	.	A		3702,694	289.8+/-280.6	1553,596,49	73	60	65		816	0.8	1	16	dbSNP_86	65	5574,3026	466.3+/-366.7	1803,1968,529	no	coding-synonymous	GOT2	NM_002080.2		3356,2564,578	AA,AG,GG		35.186,15.7871,28.6242		272/431	58750604	9276,3720	2198	4300	6498	SO:0001819	synonymous_variant	2806	exon7			GCAGAGGCAAACA		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.816C>T	16.37:g.58750604G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	80	9	0.1125	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1																																																																																			G|0.286;A|0.714	0.714	strong		0.502	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			A	58750604	G	A	58750604	2	1	23	1	0	0	0	0	0	0	0	1	6581	1195	42	2		2	GOT2	16	58750604	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133620	58750604	31604149	3725	20181										
CDH8	1006	hgsc.bcm.edu	37	chr16	61855012	61855012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccggtactgagaagtgatAcaggcctttaaaaagaggag	12	6	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:61855012A>G	ENST00000577390.1	-	6	1795	c.841T>C	c.(841-843)Tat>Cat	p.Y281H	CDH8_ENST00000577730.1_Missense_Mutation_p.Y281H|CDH8_ENST00000584337.1_Missense_Mutation_p.Y281H|CDH8_ENST00000299345.6_Missense_Mutation_p.Y281H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.Y281H(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGAAGTGATACAGGCCTTTA	0.418																																					p.Y281H		Atlas-SNP	.											CDH8,NS,carcinoma,0,1	CDH8	273	1	1	Substitution - Missense(1)	liver(1)	c.T841C						scavenged	.						75	61	66					16																	61855012		2203	4300	6503	SO:0001583	missense	1006	exon6			AGTGATACAGGCC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.841T>C	16.37:g.61855012A>G	ENSP00000462701:p.Tyr281His	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	242	5	0.0206612	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373269	0.82573	.	.	ENSG00000150394	ENST00000299345	T	0.01725	4.67	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	H	0.94771	3.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.994	T	0.02781	-1.1111	10	0.87932	D	0	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	97;281	Q3LID3;P55286	.;CADH8_HUMAN	H	281	ENSP00000299345:Y281H	ENSP00000299345:Y281H	Y	-	1	0	CDH8	60412513	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.553000	0.67287	2.284000	0.76573	0.528000	0.53228	TAT	.	.	none		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		G	61855012	A	G	61855012	3	3	23	1	0	0	0	0	1	0	0	0	3116	391	14	2	1586	2	CDH8	16	61855012	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3104408	61855012	28499741	3726	20182										
CDH5	1003	hgsc.bcm.edu	37	chr16	66432381	66432381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcctgcagatctccgcaaTagacaaggacataacaccac	8	13	1	2	rs16956504	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:66432381T>C	ENST00000341529.3	+	10	1656	c.1508T>C	c.(1507-1509)aTa>aCa	p.I503T	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> T (in dbSNP:rs16956504).		adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATCTCCGCAATAGACAAGGAC	0.483													T|||	218	0.0435304	0.003	0.0447	5008	,	,		20964	0.0		0.1113	False		,,,				2504	0.0726				p.I503T		Atlas-SNP	.											.	CDH5	111	.	0			c.T1508C						PASS	.	T	THR/ILE	71,4331	65.8+/-103.3	1,69,2131	150	126	134		1508	-4.5	0.8	16	dbSNP_123	134	930,7670	204.7+/-247.3	58,814,3428	yes	missense	CDH5	NM_001795.3	89	59,883,5559	CC,CT,TT		10.814,1.6129,7.6988	benign	503/785	66432381	1001,12001	2201	4300	6501	SO:0001583	missense	1003	exon10			CCGCAATAGACAA	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1508T>C	16.37:g.66432381T>C	ENSP00000344115:p.Ile503Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	96	78	0.8125	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	112	0.05128205128205128	1	0.0020325203252032522	18	0.049723756906077346	0	0.0	93	0.12269129287598944	T	9.148	1.015519	0.19355	0.016129	0.10814	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.44482	0.92	4.95	-4.5	0.03493	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00210	0.0006	N	0.01289	-0.905	0.35243	P	0.22196000000000005	B	0.02656	0.0	B	0.10450	0.005	T	0.23404	-1.0189	8	0.28530	T	0.3	.	13.6298	0.62189	0.0:0.6081:0.0:0.3919	rs16956504;rs16956504	503	P33151	CADH5_HUMAN	T	503;388;244	ENSP00000344115:I503T	ENSP00000344115:I503T	I	+	2	0	CDH5	64989882	0.101000	0.21875	0.776000	0.31678	0.989000	0.77384	-0.467000	0.06664	-0.795000	0.04462	0.459000	0.35465	ATA	T|0.940;C|0.060	0.060	strong		0.483	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		C	66432381	T	C	66432381	3	2	23	1	0	0	0	0	1	0	0	0	3113	1406	49	2	1542	2	CDH5	16	66432381	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4577369	66432381	23922372	3727	20183										
CDH5	1003	hgsc.bcm.edu	37	chr16	66432424	66432424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacgtgaagttcaaattcatCttgaatactgagaacaactt	6	7	3	3	rs3826229|rs386791725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:66432424C>T	ENST00000341529.3	+	10	1699	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> T (in dbSNP:rs1049970). {ECO:0000269|PubMed:10861224, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7627717}.		adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCAAATTCATCTTGAATACTG	0.473													C|||	2079	0.415136	0.3979	0.4409	5008	,	,		21236	0.5506		0.3678	False		,,,				2504	0.3292				p.I517I		Atlas-SNP	.											CDH5,NS,carcinoma,+1,2	CDH5	111	2	0			c.C1551T						PASS	.	C		96,4306		24,48,2129	150	127	134		1551	3	0.9	16	dbSNP_107	134	112,8488		25,62,4213	no	coding-synonymous	CDH5	NM_001795.3		49,110,6342	TT,TC,CC		1.3023,2.1808,1.5998		517/785	66432424	208,12794	2201	4300	6501	SO:0001819	synonymous_variant	1003	exon10			ATTCATCTTGAAT	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1551C>T	16.37:g.66432424C>T		Somatic	142	1	0.00704225		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001795	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	CCDS10804.1																																																																																			A|0.000;C|0.632;G|0.000;T|0.368	0.368	strong		0.473	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66432424	C	T	66432424	2	4	23	1	0	0	0	0	0	0	0	1	3113	903	32	2		2	CDH5	16	66432424	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43	66432424	23922329	3728	20184										
CMTM1	113540	hgsc.bcm.edu	37	chr16	66600479	66600479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagggaacttgaaacaaccGgagactgccgcagccctggc	12	13	1	2	rs7193473	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:66600479G>A	ENST00000457188.2	+	1	184	c.63G>A	c.(61-63)ccG>ccA	p.P21P	CMTM1_ENST00000529506.1_5'UTR|CMTM1_ENST00000528324.1_Silent_p.P21P|CMTM1_ENST00000535705.1_Silent_p.P21P|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_Silent_p.P21P|CMTM1_ENST00000533666.1_Silent_p.P21P|CMTM1_ENST00000533953.1_Silent_p.P21P|CMTM1_ENST00000336328.6_Silent_p.P21P|CMTM1_ENST00000379500.2_Silent_p.P21P|CMTM1_ENST00000332695.7_Silent_p.P21P|CMTM1_ENST00000531885.1_Silent_p.P21P	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	21	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TGAAACAACCGGAGACTGCCG	0.617													A|||	1606	0.320687	0.5643	0.2723	5008	,	,		12627	0.3006		0.1362	False		,,,				2504	0.2362				p.P21P		Atlas-SNP	.											.	CMTM1	34	.	0			c.G63A						PASS	.	A	,,,,,,,,,,	2276,2126	578.7+/-384.7	572,1132,497	76	67	70		,,,63,63,63,63,63,63,63,63	-5.2	0	16	dbSNP_116	70	1031,7569	771.9+/-407.7	71,889,3340	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CMTM1,CKLF-CMTM1	NM_001202509.1,NM_001204098.1,NM_001204099.1,NM_052999.3,NM_181268.2,NM_181269.2,NM_181270.2,NM_181271.2,NM_181272.2,NM_181283.2,NM_181296.2	,,,,,,,,,,	643,2021,3837	AA,AG,GG		11.9884,48.2962,25.4345	,,,,,,,,,,	,,,21/287,21/232,21/170,21/115,21/123,21/117,21/62,21/29	66600479	3307,9695	2201	4300	6501	SO:0001819	synonymous_variant	113540	exon1			ACAACCGGAGACT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.63G>A	16.37:g.66600479G>A		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	131	25	0.19084	NM_181271	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	CCDS45503.1																																																																																			G|0.721;A|0.279	0.279	strong		0.617	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		A	66600479	G	A	66600479	2	1	23	1	0	0	0	0	0	0	0	1	3582	1103	39	1		1	CMTM1	16	66600479	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	168055	66600479	23754274	3729	20185										
ELMO3	1874	hgsc.bcm.edu	37	chr16	67233266	67233266	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtggtgaagattgccatcAagatgcgtgacgccatcccg	12	11	1	4	rs12923138	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:67233266A>C	ENST00000379378.3	+	0	2096				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.K66Q|ELMO3_ENST00000360833.1_Missense_Mutation_p.K66Q|ELMO3_ENST00000477898.1_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GATTGCCATCAAGATGCGTGA	0.682													C|||	2989	0.596845	0.9614	0.4308	5008	,	,		9802	0.4117		0.4612	False		,,,				2504	0.5521				p.K66Q		Atlas-SNP	.											.	ELMO3	41	.	0			c.A196C						PASS	.	C	GLN/LYS	3688,520		1635,418,51	32	40	37		196	4.2	1	16	dbSNP_121	37	3712,4724		832,2048,1338	yes	missense	ELMO3	NM_024712.3	53	2467,2466,1389	CC,CA,AA		44.0019,12.3574,41.4742	benign	66/774	67233266	7400,5244	2104	4218	6322	SO:0001628	intergenic_variant	79767	exon1			GCCATCAAGATGC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233266A>C		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	43	7	0.162791	NM_024712	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	1205	0.5517399267399268	469	0.9532520325203252	173	0.47790055248618785	220	0.38461538461538464	343	0.4525065963060686	C	8.190	0.795820	0.16327	0.876426	0.440019	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.13901	2.55;2.55	5.19	4.18	0.49190	.	0.078682	0.52532	N	0.000076	T	0.00012	0.0000	N	0.00392	-1.555	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33904	-0.9850	9	0.21014	T	0.42	-13.512	7.9999	0.30291	0.1828:0.6409:0.1763:0.0	rs12923138;rs60324424;rs12923138	66;66	F8W9E7;Q96BJ8-3	.;.	Q	66	ENSP00000354077:K66Q;ENSP00000377566:K66Q	ENSP00000354077:K66Q	K	+	1	0	ELMO3	65790767	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.004000	0.40854	1.197000	0.43143	-0.215000	0.12644	AAG	A|0.448;C|0.552	0.552	strong		0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		C	67233266	A	C	67233266	1	2	23	0	1	0	0	0	0	0	0	0	5067	131	5	5		5	ELMO3	16	67233266	IGR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	632787	67233266	23121487	3730	20186										
CDH1	999	hgsc.bcm.edu	37	chr16	68855966	68855966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtctgatgtgaatgacaacGcccccataccagaacctcga	8	13	1	4	rs35187787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:68855966G>A	ENST00000261769.5	+	12	1965	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.A531T|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	592	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> T (in a thyroid cancer sample; may play a role in colorectal carcinogenesis; dbSNP:rs35187787). {ECO:0000269|PubMed:11562785, ECO:0000269|PubMed:8985087}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.A592T(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGACAACGCCCCCATACC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				G|||	6	0.00119808	0.0008	0.0029	5008	,	,		21048	0.0		0.002	False		,,,				2504	0.001				p.A592T		Atlas-SNP	.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	CDH1,NS,carcinoma,0,4	CDH1	535	4	4	Substitution - Missense(4)	breast(2)|thyroid(1)|stomach(1)	c.G1774A	GRCh37	CM994192	CDH1	M	rs35187787	PASS	.	G	THR/ALA	5,4391	9.9+/-24.2	0,5,2193	133	121	125		1774	5.6	0.1	16	dbSNP_126	125	54,8546	34.3+/-88.2	0,54,4246	yes	missense	CDH1	NM_004360.3	58	0,59,6439	AA,AG,GG		0.6279,0.1137,0.454	possibly-damaging	592/883	68855966	59,12937	2198	4300	6498	SO:0001583	missense	999	exon12	Familial Cancer Database	HDGC	GACAACGCCCCCA	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1774G>A	16.37:g.68855966G>A	ENSP00000261769:p.Ala592Thr	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	161	21	0.130435	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	15.26	2.781583	0.49891	0.001137	0.006279	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61627	0.09;0.09	5.56	5.56	0.83823	Cadherin (4);Cadherin conserved site (1);Cadherin-like (2);	0.595783	0.14702	N	0.303477	T	0.45816	0.1361	L	0.45744	1.44	0.34229	D	0.676292	P;P	0.51791	0.948;0.492	B;B	0.38156	0.266;0.092	T	0.68153	-0.5484	10	0.87932	D	0	.	19.1853	0.93641	0.0:0.0:1.0:0.0	rs35187787	531;592	Q9UII8;P12830	.;CADH1_HUMAN	T	592;610;592;531	ENSP00000261769:A592T;ENSP00000414946:A531T	ENSP00000261769:A592T	A	+	1	0	CDH1	67413467	1.000000	0.71417	0.149000	0.22428	0.254000	0.26022	8.900000	0.92551	2.641000	0.89580	0.536000	0.68110	GCC	A|0.003;G|0.997	0.003	strong		0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		A	68855966	G	A	68855966	3	1	23	1	0	0	0	0	1	0	0	0	3095	1087	38	1	1820	1	CDH1	16	68855966	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1622700	68855966	21498787	3731	20187										
TMCO7	79613	hgsc.bcm.edu	37	chr16	68893953	68893953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagaatggccacaaaactcTgtggatgtcacttggagttt	11	8	2	1	rs4597312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:68893953T>C	ENST00000261778.1	+	2	273	c.261T>C	c.(259-261)tcT>tcC	p.S87S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	87						integral component of membrane (GO:0016021)											CACAAAACTCTGTGGATGTCA	0.428													T|||	405	0.0808706	0.0756	0.0663	5008	,	,		20015	0.0883		0.1183	False		,,,				2504	0.0521				p.S87S		Atlas-SNP	.											.	.	.	.	0			c.T261C						PASS	.	T		318,3472		9,300,1586	122	115	117		261	0.3	1	16	dbSNP_111	117	1020,7232		65,890,3171	no	coding-synonymous	TMCO7	NM_024562.1		74,1190,4757	CC,CT,TT		12.3606,8.3905,11.1111		87/1095	68893953	1338,10704	1895	4126	6021	SO:0001819	synonymous_variant	79613	exon2			AAACTCTGTGGAT		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.261T>C	16.37:g.68893953T>C		Somatic	301	2	0.00664452		WXS	Illumina HiSeq	Phase_I	249	212	0.851406	NM_024562	Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																			T|0.895;C|0.105	0.105	strong		0.428	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		C	68893953	T	C	68893953	2	2	23	1	0	0	0	0	0	0	0	1	15998	1567	55	3		3	TMCO7	16	68893953	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	37987	68893953	21460800	3732	20188										
SNTB2	6645	hgsc.bcm.edu	37	chr16	69221510	69221510	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatctccaagatcttcccCgggctggctgccgaccagag	10	16	3	2	rs10650	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69221510C>G	ENST00000336278.4	+	1	479	c.441C>G	c.(439-441)ccC>ccG	p.P147P		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	147	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AGATCTTCCCCGGGCTGGCTG	0.716													G|||	905	0.180711	0.3003	0.1671	5008	,	,		5567	0.0417		0.2296	False		,,,				2504	0.1217				p.P147P	NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	Atlas-SNP	.											.	SNTB2	22	.	0			c.C441G						PASS	.	G		1114,3104		166,782,1161	7	9	8		441	2.9	1	16	dbSNP_52	8	1807,6475		241,1325,2575	no	coding-synonymous	SNTB2	NM_006750.3		407,2107,3736	GG,GC,CC		21.8184,26.4106,23.368		147/541	69221510	2921,9579	2109	4141	6250	SO:0001819	synonymous_variant	6645	exon1			CTTCCCCGGGCTG	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.441C>G	16.37:g.69221510C>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	26	20	0.769231	NM_006750	Q9BY09	Silent	SNP	ENST00000336278.4	37	CCDS10873.1	400	0.18315018315018314	144	0.2926829268292683	62	0.1712707182320442	30	0.05244755244755245	164	0.21635883905013192	G	13.11	2.137905	0.37728	0.264106	0.218184	ENSG00000168807	ENST00000525632;ENST00000360496	T	0.31510	1.49	4.91	2.86	0.33363	.	0.067858	0.64402	N	0.000013	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.17992	-1.0351	6	0.87932	D	0	3.495	8.6306	0.33917	0.1548:0.1286:0.7166:0.0	rs10650;rs1136061;rs1136064;rs3169308;rs17354236	.	.	.	R	16;8	ENSP00000432201:P16R	ENSP00000353686:P8R	P	+	2	0	SNTB2	67779011	0.942000	0.31987	1.000000	0.80357	0.953000	0.61014	0.499000	0.22546	0.564000	0.29238	-0.215000	0.12644	CCG	C|0.815;G|0.185	0.185	strong		0.716	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			G	69221510	C	G	69221510	2	3	23	1	0	0	0	0	0	0	0	1	14873	639	23	4		4	SNTB2	16	69221510	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	327557	69221510	21133243	3733	20189										
VPS4A	27183	hgsc.bcm.edu	37	chr16	69354963	69354963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctctctaggtttgaaaaAcgaatttatatccccttgcc	8	10	1	1	rs1127231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69354963A>G	ENST00000254950.11	+	9	1017	c.861A>G	c.(859-861)aaA>aaG	p.K287K	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GGTTTGAAAAACGAATTTATA	0.552													G|||	1357	0.270966	0.3714	0.2147	5008	,	,		18592	0.0833		0.2863	False		,,,				2504	0.3528				p.K287K		Atlas-SNP	.											.	VPS4A	18	.	0			c.A861G						PASS	.	G		1673,2713		327,1019,847	38	42	41		861	4.5	1	16	dbSNP_86	41	2682,5914		427,1828,2043	no	coding-synonymous	VPS4A	NM_013245.2		754,2847,2890	GG,GA,AA		31.2006,38.1441,33.5464		287/438	69354963	4355,8627	2193	4298	6491	SO:0001819	synonymous_variant	27183	exon9			TGAAAAACGAATT	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.861A>G	16.37:g.69354963A>G		Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	141	139	0.985816	NM_013245		Silent	SNP	ENST00000254950.11	37	CCDS45517.1																																																																																			A|0.722;G|0.278	0.278	strong		0.552	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		G	69354963	A	G	69354963	2	3	23	1	0	0	0	0	0	0	0	1	17209	40	2	2		2	VPS4A	16	69354963	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	133453	69354963	20999790	3734	20190										
PDF	64146	hgsc.bcm.edu	37	chr16	69364030	69364030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcacgaacacgcgcaggggGaagggctccatttggcggag	16	10	1	0	rs3852691	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69364030G>A	ENST00000288022.1	-	1	468	c.444C>T	c.(442-444)ttC>ttT	p.F148F	COG8_ENST00000306875.4_Intron|COG8_ENST00000564419.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	148					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)	p.F148F(1)		NS(1)|prostate(1)	2						CGCGCAGGGGGAAGGGCTCCA	0.731													-|||	383	0.0764776	0.1331	0.0692	5008	,	,		11967	0.0258		0.0547	False		,,,				2504	0.0798				p.F148F		Atlas-SNP	.											PDF,NS,carcinoma,0,1	PDF	4	1	1	Substitution - coding silent(1)	prostate(1)	c.C444T						PASS	.		,	488,3644		35,418,1613	10	10	10		444,	-0.1	1	16	dbSNP_108	10	439,7599		14,411,3594	no	coding-synonymous,intron	PDF,COG8	NM_022341.1,NM_032382.4	,	49,829,5207	AA,AG,GG		5.4616,11.8103,7.6171	,	148/244,	69364030	927,11243	2066	4019	6085	SO:0001819	synonymous_variant	64146	exon1			CAGGGGGAAGGGC	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.444C>T	16.37:g.69364030G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	61	10	0.163934	NM_022341	Q8WUN6	Silent	SNP	ENST00000288022.1	37	CCDS10875.1																																																																																			G|0.930;A|0.070	0.070	strong		0.731	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		A	69364030	G	A	69364030	2	1	23	1	0	0	0	0	0	0	0	1	11656	1165	41	2		2	PDF	16	69364030	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9067	69364030	20990723	3735	20191										
COG8	84342	hgsc.bcm.edu	37	chr16	69373414	69373414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctcgccgagagccgctgcTgtggccgtggctaccgatgg	15	14	0	1	rs11542583	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69373414T>C	ENST00000306875.4	-	1	156	c.42A>G	c.(40-42)acA>acG	p.T14T	RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_5'Flank|NIP7_ENST00000569637.2_5'Flank|COG8_ENST00000562081.1_Silent_p.T14T|NIP7_ENST00000254940.5_5'UTR|RP11-343C2.9_ENST00000563634.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	14					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GAGCCGCTGCTGTGGCCGTGG	0.677													C|||	1290	0.257588	0.3192	0.2161	5008	,	,		14793	0.0833		0.2853	False		,,,				2504	0.3548				p.T14T		Atlas-SNP	.											.	COG8	32	.	0			c.A42G						PASS	.	C		1459,2839		233,993,923	15	15	15		42	-1.1	0	16	dbSNP_120	15	2691,5805		446,1799,2003	no	coding-synonymous	COG8	NM_032382.4		679,2792,2926	CC,CT,TT		31.6737,33.946,32.4371		14/613	69373414	4150,8644	2149	4248	6397	SO:0001819	synonymous_variant	84342	exon1			CGCTGCTGTGGCC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.42A>G	16.37:g.69373414T>C		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	37	37	1	NM_032382	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	CCDS10876.1																																																																																			T|0.711;C|0.289	0.289	strong		0.677	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		C	69373414	T	C	69373414	2	2	23	1	0	0	0	0	0	0	0	1	3664	1567	55	3		3	COG8	16	69373414	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	9384	69373414	20981339	3736	20192										
TMED6	146456	hgsc.bcm.edu	37	chr16	69381769	69381769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaggcccctcatagaagacCccaaagttgaggtacacttg	9	12	2	3	rs16958777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69381769C>T	ENST00000288025.3	-	3	466	c.411G>A	c.(409-411)ggG>ggA	p.G137G	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.G130S|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	137	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CATAGAAGACCCCAAAGTTGA	0.403													T|||	382	0.076278	0.1324	0.0692	5008	,	,		18822	0.0258		0.0547	False		,,,				2504	0.0798				p.G137G		Atlas-SNP	.											.	TMED6	19	.	0			c.G411A						PASS	.	T		598,3798	769.6+/-413.7	48,502,1648	246	235	238		411	4.2	1	16	dbSNP_123	238	541,8059	795.0+/-407.5	15,511,3774	no	coding-synonymous	TMED6	NM_144676.3		63,1013,5422	TT,TC,CC		6.2907,13.6033,8.7642		137/241	69381769	1139,11857	2198	4300	6498	SO:0001819	synonymous_variant	146456	exon3			GAAGACCCCAAAG	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.411G>A	16.37:g.69381769C>T		Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	275	34	0.123636	NM_144676	Q6UXN5	Silent	SNP	ENST00000288025.3	37	CCDS10878.1																																																																																			C|0.926;T|0.074	0.074	strong		0.403	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		T	69381769	C	T	69381769	2	4	23	1	0	0	0	0	0	0	0	1	16005	610	22	2		2	TMED6	16	69381769	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8355	69381769	20972984	3737	20193										
NQO1	1728	hgsc.bcm.edu	37	chr16	69745145	69745145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgctatatgtcagttgagGttctaagacttggaagccac	10	7	2	2	rs1800566	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69745145G>A	ENST00000320623.5	-	6	1070	c.559C>T	c.(559-561)Cct>Tct	p.P187S	NQO1_ENST00000439109.2_Missense_Mutation_p.P115S|NQO1_ENST00000379046.2_Missense_Mutation_p.P149S|NQO1_ENST00000379047.3_Missense_Mutation_p.P153S|NQO1_ENST00000561500.1_Missense_Mutation_p.P149S|snoU13_ENST00000459361.1_RNA|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000564043.1_Missense_Mutation_p.P166S	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	187			P -> S (lack of activity; dbSNP:rs1800566). {ECO:0000269|PubMed:10447260, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1737339, ECO:0000269|Ref.3}.		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)	p.P187S(1)		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)	GTCAGTTGAGGTTCTAAGACT	0.458													G|||	1447	0.288938	0.1755	0.3329	5008	,	,		21129	0.4187		0.2107	False		,,,				2504	0.3579				p.P187S		Atlas-SNP	.											NQO1,NS,carcinoma,0,1	NQO1	21	1	1	Substitution - Missense(1)	stomach(1)	c.C559T	GRCh37	CM950861	NQO1	M	rs1800566	scavenged	.	G	SER/PRO,SER/PRO,SER/PRO	856,3540	334.4+/-303.4	77,702,1419	154	160	158	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	559,457,445	5.4	1	16	dbSNP_89	158	1709,6891	311.2+/-310.2	177,1355,2768	yes	missense,missense,missense	NQO1	NM_000903.2,NM_001025433.1,NM_001025434.1	74,74,74	254,2057,4187	AA,AG,GG		19.8721,19.4722,19.7368	possibly-damaging,possibly-damaging,possibly-damaging	187/275,153/241,149/237	69745145	2565,10431	2198	4300	6498	SO:0001583	missense	1728	exon6			GTTGAGGTTCTAA	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.559C>T	16.37:g.69745145G>A	ENSP00000319788:p.Pro187Ser	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	119	19	0.159664	NM_000903	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	CCDS10883.1	604	0.2765567765567766	88	0.17886178861788618	120	0.3314917127071823	243	0.42482517482517484	153	0.20184696569920843	G	23.7	4.442223	0.83993	0.194722	0.198721	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.09723	2.95;3.11;3.11;3.11	5.41	5.41	0.78517	Flavodoxin-like fold (1);	0.050537	0.85682	D	0.000000	T	0.00012	0.0000	M	0.68593	2.085	0.09310	P	0.999999999882097	D;P;B	0.89917	1.0;0.77;0.438	D;B;B	0.91635	0.999;0.356;0.167	T	0.48536	-0.9027	9	0.46703	T	0.11	-14.2172	18.3313	0.90270	0.0:0.0:1.0:0.0	rs1800566;rs4134727;rs4149351;rs57135274;rs1800566	115;153;187	B4DLR8;B7ZAD1;P15559	.;.;NQO1_HUMAN	S	187;153;149;115	ENSP00000319788:P187S;ENSP00000368335:P153S;ENSP00000368334:P149S;ENSP00000398330:P115S	ENSP00000319788:P187S	P	-	1	0	NQO1	68302646	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.220000	0.95180	2.696000	0.92011	0.655000	0.94253	CCT	G|0.761;A|0.239	0.239	strong		0.458	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			A	69745145	G	A	69745145	3	1	23	1	0	0	0	0	1	0	0	0	10611	1261	44	2	269	2	NQO1	16	69745145	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	363376	69745145	20609608	3738	20194										
WWP2	11060	hgsc.bcm.edu	37	chr16	69973825	69973825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgccattgaggagaccgaGggctttggacaggagtaacc	14	8	0	2	rs3748389	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:69973825G>A	ENST00000359154.2	+	24	2696	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	WWP2_ENST00000568684.1_Silent_p.E426E|WWP2_ENST00000542271.1_Silent_p.E749E|WWP2_ENST00000448661.1_Silent_p.E865E|WWP2_ENST00000356003.2_Silent_p.E865E|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	865	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGACCGAGGGCTTTGGAC	0.612													G|||	2646	0.528355	0.3994	0.3862	5008	,	,		17241	0.8819		0.3449	False		,,,				2504	0.6278				p.E865E		Atlas-SNP	.											WWP2,NS,carcinoma,0,1	WWP2	88	1	0			c.G2595A						PASS	.	G	,	1633,2763	497.4+/-363.8	305,1023,870	84	63	70		2595,1278	3.4	1	16	dbSNP_107	70	3045,5555	462.0+/-365.6	554,1937,1809	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	859,2960,2679	AA,AG,GG		35.407,37.1474,35.9957	,	865/871,426/432	69973825	4678,8318	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon24			GACCGAGGGCTTT	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2595G>A	16.37:g.69973825G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	93	15	0.16129	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			G|0.572;A|0.428	0.428	strong		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69973825	G	A	69973825	2	1	23	1	0	0	0	0	0	0	0	1	17413	991	35	2		2	WWP2	16	69973825	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	228680	69973825	20380928	3739	20195										
FUK	197258	hgsc.bcm.edu	37	chr16	70503095	70503095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccactgcatggctgagaAcgtgaccagggaggacttcc	12	12	1	2	rs113497209	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:70503095A>G	ENST00000288078.6	+	10	1056	c.824A>G	c.(823-825)aAc>aGc	p.N275S	FUK_ENST00000378912.2_Missense_Mutation_p.N307S|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	275						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ATGGCTGAGAACGTGACCAGG	0.597													A|||	23	0.00459265	0.0015	0.0058	5008	,	,		20513	0.0		0.0169	False		,,,				2504	0.0				p.N275S		Atlas-SNP	.											.	FUK	72	.	0			c.A824G						PASS	.	A	SER/ASN	17,3987		0,17,1985	125	128	127		824	4.6	0.9	16	dbSNP_132	127	138,8182		1,136,4023	yes	missense	FUK	NM_145059.2	46	1,153,6008	GG,GA,AA		1.6587,0.4246,1.2577	benign	275/1085	70503095	155,12169	2002	4160	6162	SO:0001583	missense	197258	exon10			CTGAGAACGTGAC		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.824A>G	16.37:g.70503095A>G	ENSP00000288078:p.Asn275Ser	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	95	21	0.221053	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	15	0.006868131868131868	0	0.0	3	0.008287292817679558	0	0.0	12	0.0158311345646438	A	13.85	2.359884	0.41801	0.004246	0.016587	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.27256	1.68;1.68	5.66	4.58	0.56647	L-fucokinase (1);	0.410519	0.28290	N	0.015885	T	0.10121	0.0248	L	0.47716	1.5	0.49213	D	0.999761	B;P	0.39576	0.169;0.679	B;B	0.41946	0.051;0.371	T	0.04752	-1.0929	10	0.10377	T	0.69	-8.5588	5.1681	0.15096	0.8085:0.0:0.1915:0.0	.	307;275	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	S	275;307	ENSP00000288078:N275S;ENSP00000368192:N307S	ENSP00000288078:N275S	N	+	2	0	FUK	69060596	0.977000	0.34250	0.930000	0.37139	0.743000	0.42351	4.008000	0.57103	2.175000	0.68902	0.528000	0.53228	AAC	A|0.989;G|0.011	0.011	strong		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		G	70503095	A	G	70503095	3	3	23	1	0	0	0	0	1	0	0	0	6096	43	2	2	858	2	FUK	16	70503095	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	529270	70503095	19851658	3740	20196										
TAT	6898	hgsc.bcm.edu	37	chr16	71602660	71602660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcagcaactaaccgctccGtgaactccacatcgttctca	6	16	2	1	rs142634310	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:71602660G>A	ENST00000355962.4	-	11	1311	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	393					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TAACCGCTCCGTGAACTCCAC	0.517																																					p.T393M	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	Atlas-SNP	.											.	TAT	80	.	0			c.C1178T						PASS	.	G	MET/THR	0,4396		0,0,2198	82	69	73		1178	4.9	1	16	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TAT	NM_000353.2	81	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	393/455	71602660	3,12993	2198	4300	6498	SO:0001583	missense	6898	exon11			CGCTCCGTGAACT		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1178C>T	16.37:g.71602660G>A	ENSP00000348234:p.Thr393Met	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	156	32	0.205128	NM_000353	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353229	0.82132	0.0	3.49E-4	ENSG00000198650	ENST00000355962	D	0.90676	-2.71	5.93	4.93	0.64822	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93537	0.6874	10	0.49607	T	0.09	-17.5761	18.7826	0.91941	0.0:0.1252:0.8748:0.0	.	393	P17735	ATTY_HUMAN	M	393	ENSP00000348234:T393M	ENSP00000348234:T393M	T	-	2	0	TAT	70160161	1.000000	0.71417	0.970000	0.41538	0.977000	0.68977	7.610000	0.82949	2.826000	0.97356	0.655000	0.94253	ACG	G|0.999;A|0.001	0.001	strong		0.517	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			A	71602660	G	A	71602660	3	1	23	1	0	0	0	0	1	0	0	0	15587	1145	40	1	194	1	TAT	16	71602660	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1099565	71602660	18752093	3741	20197										
MARVELD3	91862	hgsc.bcm.edu	37	chr16	71660404	71660404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccggaccgaggcccccgccGggacacacacagggacgcgg	15	18	0	0	rs61753635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:71660404G>A	ENST00000268485.3	+	1	316	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	MARVELD3_ENST00000565261.1_Missense_Mutation_p.R91Q|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567566.1_Missense_Mutation_p.R91Q|MARVELD3_ENST00000567501.1_5'Flank|MARVELD3_ENST00000299952.4_Missense_Mutation_p.R91Q	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	91	Arg-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGCCCCCGCCGGGACACACAC	0.701													G|||	958	0.191294	0.2262	0.1758	5008	,	,		12826	0.0665		0.3002	False		,,,				2504	0.1718				p.R91Q		Atlas-SNP	.											.	MARVELD3	63	.	0			c.G272A						PASS	.	G	GLN/ARG,GLN/ARG	874,3032		107,660,1186	14	24	21		272,272	-5	0	16	dbSNP_129	21	1976,5686		265,1446,2120	yes	missense,missense	MARVELD3	NM_052858.3,NM_001017967.2	43,43	372,2106,3306	AA,AG,GG		25.7896,22.3758,24.6369	benign,benign	91/402,91/411	71660404	2850,8718	1953	3831	5784	SO:0001583	missense	91862	exon1			CCCGCCGGGACAC	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.272G>A	16.37:g.71660404G>A	ENSP00000268485:p.Arg91Gln	Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	29	5	0.172414	NM_001017967	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	CCDS10904.1	462	0.21153846153846154	103	0.20934959349593496	77	0.212707182320442	43	0.07517482517482517	239	0.3153034300791557	G	14.45	2.538478	0.45176	0.223758	0.257896	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.40225	1.04;1.04	3.96	-4.97	0.03029	.	1.273640	0.05995	N	0.646785	T	0.00012	0.0000	N	0.00926	-1.1	0.35332	P	0.214275	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.02654	T	1	-32.2938	0.9839	0.01442	0.2747:0.2817:0.2887:0.1549	rs61753635	91;91;114	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	Q	91	ENSP00000268485:R91Q;ENSP00000299952:R91Q	ENSP00000268485:R91Q	R	+	2	0	MARVELD3	70217905	0.000000	0.05858	0.028000	0.17463	0.153000	0.21895	-1.014000	0.03641	-0.568000	0.06038	-0.516000	0.04426	CGG	G|0.784;A|0.216	0.216	strong		0.701	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		A	71660404	G	A	71660404	3	1	23	1	0	0	0	0	1	0	0	0	9319	1116	39	1	274	1	MARVELD3	16	71660404	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	57744	71660404	18694349	3742	20198										
DHX38	9785	hgsc.bcm.edu	37	chr16	72137561	72137561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtaagaccactcagctgacGcagtacctgcatgaagatgg	12	10	1	4	rs2240243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:72137561G>A	ENST00000268482.3	+	13	2207	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	566	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCAGCTGACGCAGTACCTGC	0.552													A|||	2368	0.472843	0.7814	0.3112	5008	,	,		19860	0.3105		0.3519	False		,,,				2504	0.4622				p.T566T	Melanoma(97;711 1442 7855 13832 28836)	Atlas-SNP	.											.	DHX38	91	.	0			c.G1698A						PASS	.	A		3037,1359	451.2+/-349.6	1063,911,224	123	98	107		1698	-2.3	1	16	dbSNP_98	107	3170,5430	655.0+/-401.2	571,2028,1701	no	coding-synonymous	DHX38	NM_014003.3		1634,2939,1925	AA,AG,GG		36.8605,30.9145,47.7608		566/1228	72137561	6207,6789	2198	4300	6498	SO:0001819	synonymous_variant	9785	exon13			GCTGACGCAGTAC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1698G>A	16.37:g.72137561G>A		Somatic	164	1	0.00609756		WXS	Illumina HiSeq	Phase_I	164	163	0.993902	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																			G|0.533;A|0.467	0.467	strong		0.552	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72137561	G	A	72137561	2	1	23	1	0	0	0	0	0	0	0	1	4511	1074	38	1		1	DHX38	16	72137561	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	477157	72137561	18217192	3743	20199										
DHX38	9785	hgsc.bcm.edu	37	chr16	72139184	72139184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaactggagaacgcgcctgcCctggctgtgctgcccatcta	12	14	1	1	rs2074626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:72139184C>A	ENST00000268482.3	+	17	2825	c.2316C>A	c.(2314-2316)gcC>gcA	p.A772A	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	772	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A772A(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACGCGCCTGCCCTGGCTGTGC	0.577													C|||	2385	0.476238	0.7799	0.3156	5008	,	,		18831	0.3085		0.3559	False		,,,				2504	0.4765				p.A772A	Melanoma(97;711 1442 7855 13832 28836)	Atlas-SNP	.											DHX38,NS,carcinoma,0,2	DHX38	91	2	1	Substitution - coding silent(1)	prostate(1)	c.C2316A						scavenged	.	C		3042,1354	691.3+/-405.4	1066,910,222	71	66	68		2316	1.2	0.9	16	dbSNP_96	68	3215,5385	484.9+/-371.5	593,2029,1678	no	coding-synonymous	DHX38	NM_014003.3		1659,2939,1900	AA,AC,CC		37.3837,30.8007,48.1456		772/1228	72139184	6257,6739	2198	4300	6498	SO:0001819	synonymous_variant	9785	exon17			GCCTGCCCTGGCT	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2316C>A	16.37:g.72139184C>A		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	91	91	1	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																			C|0.529;A|0.471	0.471	strong		0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72139184	C	A	72139184	2	1	23	1	0	0	0	0	0	0	0	1	4511	610	22	4		4	DHX38	16	72139184	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1623	72139184	18215569	3744	20200										
GLG1	2734	hgsc.bcm.edu	37	chr16	74490556	74490556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggtcattacctttgctgcGtaactccacatctcaatccg	6	13	2	0	rs9945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:74490556G>A	ENST00000422840.2	-	25	3362	c.3363C>T	c.(3361-3363)taC>taT	p.Y1121Y	GLG1_ENST00000205061.5_Silent_p.Y1121Y|RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000447066.2_Silent_p.Y1110Y	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1121					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCTTTGCTGCGTAACTCCACA	0.443													G|||	707	0.141174	0.261	0.1124	5008	,	,		19372	0.0089		0.1779	False		,,,				2504	0.0982				p.Y1121Y		Atlas-SNP	.											.	GLG1	106	.	0			c.C3363T						PASS	.	G	,,	1142,3254	406.0+/-333.7	147,848,1203	132	128	130		3330,3363,3363	-1.8	1	16	dbSNP_52	130	1580,7020	295.5+/-302.4	145,1290,2865	no	coding-synonymous,coding-synonymous,coding-synonymous	GLG1	NM_001145666.1,NM_001145667.1,NM_012201.5	,,	292,2138,4068	AA,AG,GG		18.3721,25.9782,20.9449	,,	1110/1193,1121/1180,1121/1204	74490556	2722,10274	2198	4300	6498	SO:0001819	synonymous_variant	2734	exon25			TGCTGCGTAACTC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3363C>T	16.37:g.74490556G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	96	79	0.822917	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																			T|0.028;G|0.674;C|0.146;A|0.153	0.153	strong		0.443	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74490556	G	A	74490556	2	1	23	1	0	0	0	0	0	0	0	1	6436	1140	40	1		1	GLG1	16	74490556	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2351372	74490556	15864197	3745	20201										
RFWD3	55159	hgsc.bcm.edu	37	chr16	74664698	74664698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggctttctgagctactaActcctgcacatgactgctcg	8	14	1	2	rs78796563	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:74664698A>G	ENST00000361070.4	-	10	1832	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L	RFWD3_ENST00000571750.1_Silent_p.L579L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	579					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L579L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGAGCTACTAACTCCTGCACA	0.473													A|||	67	0.0133786	0.0023	0.0259	5008	,	,		18719	0.0		0.0288	False		,,,				2504	0.0174				p.L579L		Atlas-SNP	.											RFWD3,NS,carcinoma,0,1	RFWD3	49	1	1	Substitution - coding silent(1)	lung(1)	c.T1735C						PASS	.	A		28,4368	32.6+/-62.9	1,26,2171	94	70	78		1735	3.5	0.3	16	dbSNP_132	78	267,8333	102.3+/-163.5	4,259,4037	no	coding-synonymous	RFWD3	NM_018124.3		5,285,6208	GG,GA,AA		3.1047,0.6369,2.2699		579/775	74664698	295,12701	2198	4300	6498	SO:0001819	synonymous_variant	55159	exon10			CTACTAACTCCTG	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1735T>C	16.37:g.74664698A>G		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	87	16	0.183908	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	CCDS32486.1																																																																																			A|0.981;G|0.019	0.019	strong		0.473	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		G	74664698	A	G	74664698	2	3	23	1	0	0	0	0	0	0	0	1	13261	40	2	2		2	RFWD3	16	74664698	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	174142	74664698	15690055	3746	20202										
RFWD3	55159	hgsc.bcm.edu	37	chr16	74664743	74664743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgcacgtcatataccagaaTtgaaccattggccagtccag	8	12	1	2	rs7193541	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:74664743T>C	ENST00000361070.4	-	10	1787	c.1690A>G	c.(1690-1692)Att>Gtt	p.I564V	RFWD3_ENST00000571750.1_Missense_Mutation_p.I564V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	564			I -> V (in dbSNP:rs7193541). {ECO:0000269|Ref.3}.		DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I564V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TATACCAGAATTGAACCATTG	0.502													T|||	1967	0.392772	0.5166	0.2896	5008	,	,		18495	0.4613		0.3936	False		,,,				2504	0.227				p.I564V		Atlas-SNP	.											RFWD3,NS,carcinoma,0,1	RFWD3	49	1	1	Substitution - Missense(1)	stomach(1)	c.A1690G						PASS	.	T	VAL/ILE	2240,2156	594.3+/-388.2	576,1088,534	118	94	102		1690	3.4	0.5	16	dbSNP_116	102	3637,4963	524.0+/-380.4	770,2097,1433	yes	missense	RFWD3	NM_018124.3	29	1346,3185,1967	CC,CT,TT		42.2907,49.0446,45.2216	benign	564/775	74664743	5877,7119	2198	4300	6498	SO:0001583	missense	55159	exon10			CCAGAATTGAACC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1690A>G	16.37:g.74664743T>C	ENSP00000354361:p.Ile564Val	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	105	90	0.857143	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	913	0.41804029304029305	260	0.5284552845528455	115	0.31767955801104975	245	0.42832167832167833	293	0.3865435356200528	T	9.100	1.003950	0.19199	0.509554	0.422907	ENSG00000168411	ENST00000361070	T	0.29917	1.55	5.74	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);	0.184587	0.49305	N	0.000144	T	0.00012	0.0000	N	0.11651	0.15	0.28633	P	0.9075455	B	0.13594	0.008	B	0.10450	0.005	T	0.45086	-0.9285	9	0.09843	T	0.71	-14.7735	7.6779	0.28497	0.0:0.3227:0.0:0.6773	rs7193541;rs56472058;rs58059142;rs7193541	564	Q6PCD5	RFWD3_HUMAN	V	564	ENSP00000354361:I564V	ENSP00000354361:I564V	I	-	1	0	RFWD3	73222244	0.890000	0.30428	0.485000	0.27403	0.855000	0.48748	1.552000	0.36244	0.941000	0.37499	0.533000	0.62120	ATT	T|0.562;C|0.438	0.438	strong		0.502	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		C	74664743	T	C	74664743	3	2	23	1	0	0	0	0	1	0	0	0	13261	1493	52	2	650	2	RFWD3	16	74664743	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	45	74664743	15690010	3747	20203										
MLKL	197259	hgsc.bcm.edu	37	chr16	74709233	74709233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacctcaccactggctgagCcagtcttcacattcttcacc	5	17	5	1	rs144526386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:74709233C>A	ENST00000306247.7	-	4	944	c.605G>T	c.(604-606)gGc>gTc	p.G202V	MLKL_ENST00000308807.7_Intron	NM_001142497.1	NP_001135969.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACTGGCTGAGCCAGTCTTCAC	0.493													C|||	51	0.0101837	0.0023	0.0144	5008	,	,		19105	0.0		0.0209	False		,,,				2504	0.0174				p.G202V		Atlas-SNP	.											.	MLKL	51	.	0			c.G605T						PASS	.	C	VAL/GLY,	17,4379	23.3+/-48.9	0,17,2181	113	108	110		605,	-1	0	16	dbSNP_134	110	162,8438	76.3+/-139.0	2,158,4140	yes	missense,intron	MLKL	NM_001142497.1,NM_152649.2	109,	2,175,6321	AA,AC,CC		1.8837,0.3867,1.3773	,	202/264,	74709233	179,12817	2198	4300	6498	SO:0001583	missense	197259	exon4			GCTGAGCCAGTCT	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000306247.7:c.605G>T	16.37:g.74709233C>A	ENSP00000303118:p.Gly202Val	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	122	25	0.204918	NM_001142497		Missense_Mutation	SNP	ENST00000306247.7	37	CCDS45528.1	23	0.010531135531135532	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	15	0.01978891820580475	C	8.923	0.961462	0.18583	0.003867	0.018837	ENSG00000168404	ENST00000306247	T	0.12147	2.71	4.96	-1.05	0.10036	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65573	0.936	T	0.07501	-1.0769	8	0.48119	T	0.1	.	8.2986	0.32001	0.0:0.4852:0.0:0.5148	.	202	Q8NB16-2	.	V	202	ENSP00000303118:G202V	ENSP00000303118:G202V	G	-	2	0	MLKL	73266734	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.620000	0.05565	-0.228000	0.09869	-0.374000	0.07098	GGC	C|0.986;A|0.014	0.014	strong		0.493	MLKL-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436402.1	NM_152649		A	74709233	C	A	74709233	3	1	23	1	0	0	0	0	1	0	0	0	9619	739	26	4	198	4	MLKL	16	74709233	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	44490	74709233	15645520	3748	20204										
WDR59	79726	hgsc.bcm.edu	37	chr16	74942865	74942865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcatgggccttgtgaaataTaccaggtaacctaaaggagg	12	7	1	1	rs141093453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																					p.V551V		Atlas-SNP	.											.	WDR59	66	.	0			c.A1653G						PASS	.						90	79	83					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726	exon17			GAAATATACCAGG	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1653A>G	16.37:g.74942865T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	87	19	0.218391	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																			T|0.973;C|0.027	0.027	strong		0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942865	T	C	74942865	2	2	23	1	0	0	0	0	0	0	0	1	17305	1393	49	2		2	WDR59	16	74942865	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	233632	74942865	15411888	3749	20205										
BCAR1	9564	hgsc.bcm.edu	37	chr16	75263816	75263816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgccggtccgagggccccaGgccgcctgttcgccccgggg	16	18	0	0	rs145141523	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:75263816G>A	ENST00000162330.5	-	7	2332	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000420641.3_Silent_p.L754L|BCAR1_ENST00000535626.2_Silent_p.L588L|BCAR1_ENST00000538440.2_Silent_p.L736L|BCAR1_ENST00000393420.6_Silent_p.L754L|BCAR1_ENST00000393422.2_Silent_p.L754L|BCAR1_ENST00000542031.2_Silent_p.L734L|BCAR1_ENST00000546196.1_Silent_p.L707L|BCAR1_ENST00000418647.3_Silent_p.L782L|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	736					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGGCCCCAGGCCGCCTGTT	0.657													G|||	25	0.00499201	0.0015	0.0014	5008	,	,		15958	0.0		0.0179	False		,,,				2504	0.0041				p.L782L		Atlas-SNP	.											BCAR1_ENST00000393420,NS,carcinoma,0,2	BCAR1	184	2	0			c.C2344T						PASS	.	G	,,,,,,,,	9,4377		0,9,2184	37	42	40		2344,2260,2260,2260,2206,2200,1762,1576,2206	2.7	1	16	dbSNP_134	40	169,8417		3,163,4127	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	3,172,6311	AA,AG,GG		1.9683,0.2052,1.3722	,,,,,,,,	782/917,754/889,754/889,754/889,736/871,734/869,588/723,526/661,736/871	75263816	178,12794	2193	4293	6486	SO:0001819	synonymous_variant	9564	exon8			GCCCCAGGCCGCC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2206C>T	16.37:g.75263816G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	41	35	0.853659	NM_001170714	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	CCDS10915.1																																																																																			G|0.993;A|0.007	0.007	strong		0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		A	75263816	G	A	75263816	2	1	23	1	0	0	0	0	0	0	0	1	1348	991	35	2		2	BCAR1	16	75263816	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	320951	75263816	15090937	3750	20206										
CNTNAP4	85445	hgsc.bcm.edu	37	chr16	76482747	76482747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagcattggcattcagtgCtcatccagcgtttgggcaaa	10	10	3	0	rs34251012	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:76482747C>G	ENST00000476707.1	+	5	974	c.835C>G	c.(835-837)Ctc>Gtc	p.L279V	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L251V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L275V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L275V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	276	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCATTCAGTGCTCATCCAGCG	0.473													C|||	162	0.0323482	0.0598	0.0202	5008	,	,		17949	0.005		0.0159	False		,,,				2504	0.0491				p.L251V		Atlas-SNP	.											.	CNTNAP4	600	.	0			c.C751G						PASS	.	C	VAL/LEU,VAL/LEU	267,4129	151.8+/-185.6	9,249,1940	142	108	119		825,751	4.4	1	16	dbSNP_126	119	161,8439	76.3+/-139.0	0,161,4139	yes	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	32,32	9,410,6079	GG,GC,CC		1.8721,6.0737,3.2933	possibly-damaging,possibly-damaging	276/1309,251/1236	76482747	428,12568	2198	4300	6498	SO:0001583	missense	85445	exon6			TCAGTGCTCATCC	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.835C>G	16.37:g.76482747C>G	ENSP00000417628:p.Leu279Val	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	247	39	0.157895	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		56	0.02564102564102564	38	0.07723577235772358	7	0.019337016574585635	1	0.0017482517482517483	10	0.013192612137203167	C	14.10	2.433919	0.43224	0.060737	0.018721	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.34	4.37	0.52481	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.33419	N	0.004929	T	0.12603	0.0306	.	.	.	0.27364	N	0.955881	B;B;B;B	0.34226	0.05;0.443;0.003;0.399	B;B;B;B	0.39465	0.14;0.3;0.088;0.256	T	0.29058	-1.0024	9	0.32370	T	0.25	.	11.0366	0.47804	0.1455:0.7144:0.1401:0.0	rs34251012	251;279;251;276	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	275;275;251;279	ENSP00000306893:L275V;ENSP00000439733:L275V;ENSP00000418741:L251V;ENSP00000417628:L279V	ENSP00000306893:L275V	L	+	1	0	CNTNAP4	75040248	0.999000	0.42202	0.994000	0.49952	0.972000	0.66771	2.155000	0.42301	1.447000	0.47661	0.655000	0.94253	CTC	C|0.967;G|0.033	0.033	strong		0.473	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		G	76482747	C	G	76482747	3	3	23	1	0	0	0	0	1	0	0	0	3649	797	28	4	861	4	CNTNAP4	16	76482747	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1218931	76482747	13872006	3751	20207										
ADAMTS18	170692	hgsc.bcm.edu	37	chr16	77328990	77328990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctggcctccagcacaggCcttgctgcatgtactccatt	9	15	0	0	rs12935394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:77328990C>A	ENST00000282849.5	-	19	3254	c.2836G>T	c.(2836-2838)Gcc>Tcc	p.A946S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	946	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.		A -> S (in dbSNP:rs12935394). {ECO:0000269|PubMed:11867212}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCAGCACAGGCCTTGCTGCAT	0.478													A|||	571	0.114018	0.0053	0.183	5008	,	,		20222	0.1935		0.1262	False		,,,				2504	0.1176				p.A946S		Atlas-SNP	.											.	ADAMTS18	270	.	0			c.G2836T						PASS	.	A	SER/ALA	95,4301	816.8+/-416.3	2,91,2105	110	71	84		2836	3.3	0.9	16	dbSNP_121	84	1125,7475	767.1+/-407.6	71,983,3246	yes	missense	ADAMTS18	NM_199355.2	99	73,1074,5351	AA,AC,CC		13.0814,2.1611,9.3875	benign	946/1222	77328990	1220,11776	2198	4300	6498	SO:0001583	missense	170692	exon19			CACAGGCCTTGCT	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2836G>T	16.37:g.77328990C>A	ENSP00000282849:p.Ala946Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	115	88	0.765217	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	272	0.12454212454212454	3	0.006097560975609756	59	0.16298342541436464	111	0.19405594405594406	99	0.13060686015831136	A	0.837	-0.743407	0.03088	0.021611	0.130814	ENSG00000140873	ENST00000282849	T	0.49432	0.78	5.64	3.28	0.37604	.	0.139559	0.50627	N	0.000117	T	0.00012	0.0000	N	0.00042	-2.475	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18999	-1.0319	9	0.06757	T	0.87	.	3.9179	0.09231	0.6669:0.1343:0.0704:0.1285	rs12935394;rs52805630;rs57833891;rs12935394	946;946	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	946	ENSP00000282849:A946S	ENSP00000282849:A946S	A	-	1	0	ADAMTS18	75886491	0.749000	0.28305	0.943000	0.38184	0.398000	0.30690	1.489000	0.35562	0.426000	0.26116	-0.256000	0.11100	GCC	C|0.893;A|0.107	0.107	strong		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77328990	C	A	77328990	3	1	23	1	0	0	0	0	1	0	0	0	263	739	26	4	849	4	ADAMTS18	16	77328990	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	846243	77328990	13025763	3752	20208										
ADAMTS18	170692	hgsc.bcm.edu	37	chr16	77353973	77353973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgggcgccagctggaatgaGgaccaccggataatattcta	12	10	1	1	rs9930984	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:77353973G>T	ENST00000282849.5	-	16	2723	c.2305C>A	c.(2305-2307)Ctc>Atc	p.L769I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	769	Spacer.		L -> I (in dbSNP:rs9930984). {ECO:0000269|PubMed:15489334}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTGGAATGAGGACCACCGGA	0.488													T|||	3180	0.634984	0.7731	0.6268	5008	,	,		16886	0.8681		0.3648	False		,,,				2504	0.4918				p.L769I		Atlas-SNP	.											.	ADAMTS18	270	.	0			c.C2305A						PASS	.	T	ILE/LEU	3290,1106	395.1+/-329.5	1247,796,155	47	53	51		2305	2.1	0	16	dbSNP_119	51	3395,5205	638.9+/-399.4	683,2029,1588	yes	missense	ADAMTS18	NM_199355.2	5	1930,2825,1743	TT,TG,GG		39.4767,25.1592,48.5611	benign	769/1222	77353973	6685,6311	2198	4300	6498	SO:0001583	missense	170692	exon16			GAATGAGGACCAC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2305C>A	16.37:g.77353973G>T	ENSP00000282849:p.Leu769Ile	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	62	11	0.177419	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	1348	0.6172161172161172	368	0.7479674796747967	207	0.5718232044198895	493	0.8618881118881119	280	0.36939313984168864	T	0.356	-0.942285	0.02322	0.748408	0.394767	ENSG00000140873	ENST00000282849	T	0.51574	0.7	5.54	2.08	0.27032	ADAM-TS Spacer 1 (1);	1.032820	0.07672	N	0.935568	T	0.00012	0.0000	N	0.04355	-0.22	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.33497	-0.9866	9	0.46703	T	0.11	.	5.8572	0.18727	0.0:0.2071:0.1293:0.6636	rs9930984;rs17855795;rs52810859;rs59142387;rs9930984	769;769	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	I	769	ENSP00000282849:L769I	ENSP00000282849:L769I	L	-	1	0	ADAMTS18	75911474	0.998000	0.40836	0.004000	0.12327	0.076000	0.17211	2.540000	0.45727	-0.130000	0.11599	-1.221000	0.01599	CTC	G|0.434;T|0.566	0.566	strong		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77353973	G	T	77353973	3	4	23	1	0	0	0	0	1	0	0	0	263	1000	35	4	1392	4	ADAMTS18	16	77353973	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24983	77353973	13000780	3753	20209										
ADAMTS18	170692	hgsc.bcm.edu	37	chr16	77359919	77359919	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctagaacctggacagaataAgccaccatactgaggcctga	10	11	0	4	rs11640912	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:77359919A>T	ENST00000282849.5	-	13	2294	c.1876T>A	c.(1876-1878)Tta>Ata	p.L626I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	626	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.		L -> I (in dbSNP:rs11640912). {ECO:0000269|PubMed:11867212, ECO:0000269|PubMed:15489334}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGACAGAATAAGCCACCATAC	0.368													T|||	2201	0.439497	0.146	0.5562	5008	,	,		19296	0.8681		0.3618	False		,,,				2504	0.3916				p.L626I		Atlas-SNP	.											.	ADAMTS18	270	.	0			c.T1876A						PASS	.	T	ILE/LEU	905,3491	739.6+/-411.1	96,713,1389	70	64	66		1876	4.8	1	16	dbSNP_120	66	3239,5361	649.3+/-400.6	615,2009,1676	yes	missense	ADAMTS18	NM_199355.2	5	711,2722,3065	TT,TA,AA		37.6628,20.5869,31.8867	benign	626/1222	77359919	4144,8852	2198	4300	6498	SO:0001583	missense	170692	exon13			AGAATAAGCCACC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1876T>A	16.37:g.77359919A>T	ENSP00000282849:p.Leu626Ile	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	132	22	0.166667	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	1037	0.4748168498168498	72	0.14634146341463414	195	0.5386740331491713	494	0.8636363636363636	276	0.3641160949868074	T	16.49	3.137533	0.56936	0.205869	0.376628	ENSG00000140873	ENST00000282849	T	0.03553	3.89	5.98	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B;B	0.15930	0.015;0.007	B;B	0.11329	0.006;0.005	T	0.12218	-1.0556	9	0.87932	D	0	.	8.6403	0.33972	0.1282:0.0:0.1344:0.7373	rs11640912;rs17855796;rs52810617;rs11640912	626;626	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	I	626	ENSP00000282849:L626I	ENSP00000282849:L626I	L	-	1	2	ADAMTS18	75917420	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.234000	0.58658	1.087000	0.41251	-0.265000	0.10407	TTA	A|0.625;T|0.375	0.375	strong		0.368	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77359919	A	T	77359919	3	4	23	1	0	0	0	0	1	0	0	0	263	69	3	5	1833	5	ADAMTS18	16	77359919	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5946	77359919	12994834	3754	20210										
CLEC3A	10143	hgsc.bcm.edu	37	chr16	78064733	78064733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgcgagttcaccatccctCaataggtctttctccaatgt	6	12	4	0	rs2072663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:78064733C>A	ENST00000575655.1	+	3	670	c.589C>A	c.(589-591)Caa>Aaa	p.Q197K	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.Q206K|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	197			Q -> K (in dbSNP:rs2072663). {ECO:0000269|PubMed:12975309}.		skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACCATCCCTCAATAGGTCTT	0.413													C|||	658	0.13139	0.0719	0.1441	5008	,	,		20795	0.245		0.1223	False		,,,				2504	0.0951				p.Q206K		Atlas-SNP	.											.	CLEC3A	39	.	0			c.C616A						PASS	.	C	LYS/GLN	363,4033	170.1+/-200.6	15,333,1850	67	69	69		589	3.8	0.3	16	dbSNP_96	69	1147,7451	227.5+/-262.8	82,983,3234	yes	missense	CLEC3A	NM_005752.4	53	97,1316,5084	AA,AC,CC		13.3403,8.2575,11.6207	benign	197/198	78064733	1510,11484	2198	4299	6497	SO:0001583	missense	10143	exon3			ATCCCTCAATAGG	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.589C>A	16.37:g.78064733C>A	ENSP00000460682:p.Gln197Lys	Somatic	146	1	0.00684932		WXS	Illumina HiSeq	Phase_I	97	84	0.865979	NM_005752	B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37		329	0.15064102564102563	49	0.09959349593495935	45	0.12430939226519337	143	0.25	92	0.12137203166226913	C	10.14	1.268501	0.23136	0.082575	0.133403	ENSG00000166509	ENST00000299642	.	.	.	6.07	3.85	0.44370	.	21.172100	0.01519	N	0.018298	T	0.00012	0.0000	N	0.08118	0	0.50813	P	1.020000000000465E-4	B	0.06786	0.001	B	0.01281	0.0	T	0.21109	-1.0255	8	0.21540	T	0.41	.	10.2292	0.43245	0.0:0.1348:0.0:0.8652	rs2072663;rs2234867;rs60748914;rs2072663	197	O75596	CLC3A_HUMAN	K	197	.	ENSP00000299642:Q197K	Q	+	1	0	CLEC3A	76622234	0.904000	0.30761	0.264000	0.24511	0.032000	0.12392	3.057000	0.49931	0.547000	0.28938	-0.238000	0.12139	CAA	C|0.867;A|0.133	0.133	strong		0.413	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		A	78064733	C	A	78064733	3	1	23	1	0	0	0	0	1	0	0	0	3510	827	29	4	599	4	CLEC3A	16	78064733	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	704814	78064733	12290020	3755	20211										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81208515	81208515	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacacatgtgtctccgagtGccacctgttaggaaatcaga	9	11	2	1	rs12596941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:81208515G>A	ENST00000527937.1	-	0	469				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			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						GTCTCCGAGTGCCACCTGTTA	0.557													G|||	1013	0.202276	0.0068	0.2104	5008	,	,		20376	0.3046		0.2247	False		,,,				2504	0.3323				p.A863V		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C2588T						PASS	.	G	VAL/ALA,VAL/ALA	202,3868		5,192,1838	50	47	48		2588,2588	0.4	0	16	dbSNP_120	48	1882,6504		214,1454,2525	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	64,64	219,1646,4363	AA,AG,GG		22.4422,4.9631,16.7309	benign,benign	863/992,863/2460	81208515	2084,10372	2035	4193	6228			114780	exon16			CCGAGTGCCACCT	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		16.37:g.81208515G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	16	0.246154	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		445	0.20375457875457875	7	0.014227642276422764	77	0.212707182320442	181	0.31643356643356646	180	0.23746701846965698	G	9.620	1.133700	0.21123	0.049631	0.224422	ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937	T;T;T	0.29655	1.56;1.56;1.56	4.7	0.362	0.16113	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2.898440	0.00953	N	0.002980	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.28933	0.078;0.228;0.216	B;B;B	0.27796	0.025;0.083;0.074	T	0.33240	-0.9876	8	0.42905	T	0.14	-0.0057	6.5899	0.22642	0.0:0.5186:0.3065:0.1748	rs12596941;rs52800976;rs12596941	119;863;863	Q7Z442-6;Q7Z442-3;Q7Z442	.;.;PK1L2_HUMAN	V	178;863;119	ENSP00000436309:A178V;ENSP00000337397:A863V;ENSP00000432818:A119V	ENSP00000337397:A863V	A	-	2	0	PKD1L2	79766016	0.000000	0.05858	0.029000	0.17559	0.022000	0.10575	0.054000	0.14205	0.151000	0.19162	-0.321000	0.08615	GCA	G|0.789;A|0.211	0.211	strong		0.557	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			A	81208515	G	A	81208515	1	1	23	0	1	0	0	0	0	0	0	0	11965	1319	46	2		2	PKD1L2	16	81208515	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3143782	81208515	9146238	3756	20212										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81232294	81232294	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaacagccaggcggcaaaTcccaaatggctctccaaagc	10	14	1	0	rs61734110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:81232294T>C	ENST00000525539.1	-	0	1515				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						AGGCGGCAAATCCCAAATGGC	0.582													T|||	154	0.0307508	0.0325	0.0317	5008	,	,		20196	0.004		0.0716	False		,,,				2504	0.0133				p.I506V		Atlas-SNP	.											.	PKD1L2	361	.	0			c.A1516G						PASS	.	T	VAL/ILE,VAL/ILE	168,3844		1,166,1839	51	52	51		1516,1516	2.8	0.5	16	dbSNP_129	51	526,7782		17,492,3645	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	29,29	18,658,5484	CC,CT,TT		6.3312,4.1874,5.6331	benign,benign	506/992,506/2460	81232294	694,11626	2006	4154	6160			114780	exon7			GGCAAATCCCAAA	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		16.37:g.81232294T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	109	88	0.807339	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		85|85	0.03891941391941392|0.03891941391941392	17|17	0.034552845528455285|0.034552845528455285	16|16	0.04419889502762431|0.04419889502762431	1|1	0.0017482517482517483|0.0017482517482517483	51|51	0.06728232189973615|0.06728232189973615	T|T	0.006|0.006	-2.058861|-2.058861	0.00390|0.00390	0.041874|0.041874	0.063312|0.063312	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000337114	.|T	.|0.01279	.|5.06	5.08|5.08	2.75|2.75	0.32379|0.32379	.|Egg jelly receptor, REJ-like (1);	.|1.001100	.|0.08058	.|N	.|0.997623	T|T	0.00144|0.00144	0.0004|0.0004	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16603	.|0.018;0.006	.|B;B	.|0.17722	.|0.019;0.004	T|T	0.50127|0.50127	-0.8864|-0.8864	4|9	.|0.22706	.|T	.|0.39	-3.0E-4|-3.0E-4	8.8296|8.8296	0.35076|0.35076	0.0:0.2087:0.0:0.7913|0.0:0.2087:0.0:0.7913	.|.	.|506;506	.|Q7Z442-3;Q7Z442	.|.;PK1L2_HUMAN	G|V	33|506	.|ENSP00000337397:I506V	.|ENSP00000337397:I506V	D|I	-|-	2|1	0|0	PKD1L2|PKD1L2	79789795|79789795	0.000000|0.000000	0.05858|0.05858	0.487000|0.487000	0.27428|0.27428	0.041000|0.041000	0.13682|0.13682	0.422000|0.422000	0.21296|0.21296	0.790000|0.790000	0.33803|0.33803	-0.398000|-0.398000	0.06409|0.06409	GAT|ATT	T|0.956;C|0.044	0.044	strong		0.582	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81232294	T	C	81232294	1	2	23	0	1	0	0	0	0	0	0	0	11965	1435	50	2		2	PKD1L2	16	81232294	RNA	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23779	81232294	9122459	3757	20213										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81241100	81241100	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatttctcttacctcggcgGgttgtagggatcaaaagtgt	12	7	2	1	rs386792899|rs11150370	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:81241100G>C	ENST00000525539.1	-	0	900				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						TACCTCGGCGGGTTGTAGGGA	0.453													G|||	2372	0.473642	0.177	0.4784	5008	,	,		18125	0.8661		0.4384	False		,,,				2504	0.5031				p.P301A		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C901G						PASS	.	G	ALA/PRO,ALA/PRO	788,3012		102,584,1214	97	96	96		901,901	4.9	1	16	dbSNP_120	96	3522,4718		826,1870,1424	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	27,27	928,2454,2638	CC,CG,GG		42.7427,20.7368,35.7973	probably-damaging,probably-damaging	301/992,301/2460	81241100	4310,7730	1900	4120	6020			114780	exon5			TCGGCGGGTTGTA	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		16.37:g.81241100G>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	11	0.1375	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		1108	0.5073260073260073	107	0.21747967479674796	172	0.47513812154696133	482	0.8426573426573427	347	0.4577836411609499	G	15.13	2.741991	0.49151	0.207368	0.427427	ENSG00000166473	ENST00000337114	T	0.66280	-0.2	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.33489	P	0.411547	P;D	0.89917	0.951;1.0	P;D	0.72338	0.639;0.977	T	0.36432	-0.9748	8	0.62326	D	0.03	-15.1939	18.1543	0.89686	0.0:0.0:1.0:0.0	rs11150370;rs11150370	301;301	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	301	ENSP00000337397:P301A	ENSP00000337397:P301A	P	-	1	0	PKD1L2	79798601	1.000000	0.71417	0.976000	0.42696	0.032000	0.12392	6.049000	0.71053	2.277000	0.76020	0.563000	0.77884	CCG	G|0.506;C|0.494	0.494	strong		0.453	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81241100	G	C	81241100	1	2	23	0	1	0	0	0	0	0	0	0	11965	1232	43	4		4	PKD1L2	16	81241100	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8806	81241100	9113653	3758	20214										
PKD1L2	114780	hgsc.bcm.edu	37	chr16	81242102	81242102	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcggggactcaccttcccGgcactggtactgcacccaca	10	16	1	0	rs6420424	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:81242102G>A	ENST00000525539.1	-	0	753				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						TCACCTTCCCGGCACTGGTAC	0.552													G|||	2832	0.565495	0.4629	0.5086	5008	,	,		21299	0.881		0.4632	False		,,,				2504	0.5245				p.R252W		Atlas-SNP	.											.	PKD1L2	361	.	0			c.C754T						PASS	.	G	TRP/ARG,TRP/ARG	1858,2332		449,960,686	80	77	78	http://omim.org/entry/115300	754,754	2	0.6	16	dbSNP_116	78	3958,4490		918,2122,1184	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	101,101	1367,3082,1870	AA,AG,GG		46.8513,44.3437,46.0199	benign,benign	252/992,252/2460	81242102	5816,6822	2095	4224	6319			114780	exon4			CTTCCCGGCACTG	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		16.37:g.81242102G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	65	8	0.123077	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		1278	0.5851648351648352	235	0.47764227642276424	180	0.4972375690607735	493	0.8618881118881119	370	0.48812664907651715	G	2.983	-0.209849	0.06140	0.443437	0.468513	ENSG00000166473	ENST00000337114	T	0.01397	4.94	4.11	2.0	0.26442	D-galactoside/L-rhamnose binding SUEL lectin domain (1);	2.014490	0.02501	N	0.090491	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.15930	0.015;0.013	B;B	0.08055	0.003;0.002	T	0.26916	-1.0089	8	0.48119	T	0.1	-0.1764	2.9711	0.05923	0.1018:0.1597:0.4865:0.252	rs6420424;rs61420732;rs6420424	252;252	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	W	252	ENSP00000337397:R252W	ENSP00000337397:R252W	R	-	1	2	PKD1L2	79799603	0.965000	0.33210	0.580000	0.28601	0.086000	0.17979	1.700000	0.37815	0.223000	0.20920	-1.598000	0.00824	CGG	G|0.437;A|0.563	0.563	strong		0.552	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81242102	G	A	81242102	1	1	23	0	1	0	0	0	0	0	0	0	11965	1115	39	1		1	PKD1L2	16	81242102	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1002	81242102	9112651	3759	20215										
PLCG2	5336	hgsc.bcm.edu	37	chr16	81929488	81929488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actaccaagatcaagtttgaCgacgtcgtgcaggccatcaa	9	11	2	2	rs1143688	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:81929488C>T	ENST00000359376.3	+	13	1363	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	383	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCAAGTTTGACGACGTCGTGC	0.577													C|||	2036	0.40655	0.1029	0.5994	5008	,	,		19362	0.7113		0.3549	False		,,,				2504	0.4192				p.D383D		Atlas-SNP	.											.	PLCG2	276	.	0			c.C1149T						PASS	.	C		616,3574		56,504,1535	159	170	166		1149	-9.9	0.1	16	dbSNP_86	166	3035,5431		557,1921,1755	no	coding-synonymous	PLCG2	NM_002661.3		613,2425,3290	TT,TC,CC		35.8493,14.7017,28.848		383/1266	81929488	3651,9005	2095	4233	6328	SO:0001819	synonymous_variant	5336	exon13			GTTTGACGACGTC		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1149C>T	16.37:g.81929488C>T		Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	121	108	0.892562	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																			C|0.594;N|0.000	.	strong		0.577	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			T	81929488	C	T	81929488	2	4	23	1	0	0	0	0	0	0	0	1	12036	535	19	1		1	PLCG2	16	81929488	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	687386	81929488	8425265	3760	20216										
OSGIN1	29948	hgsc.bcm.edu	37	chr16	83998922	83998922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggtcctcgccacaggcacGttcgacagcccggcccggct	13	17	0	0	rs146347192		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:83998922G>A	ENST00000343939.2	+	7	1376	c.993G>A	c.(991-993)acG>acA	p.T331T	OSGIN1_ENST00000361711.3_Silent_p.T248T|OSGIN1_ENST00000393306.1_Silent_p.T248T			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	331					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCACAGGCACGTTCGACAGCC	0.697																																					p.T248T		Atlas-SNP	.											OSGIN1,NS,carcinoma,+2,1	OSGIN1	33	1	0			c.G744A						scavenged	.	G	,,	0,4398		0,0,2199	26	31	29		993,744,744	-8.1	0	16	dbSNP_134	29	2,8580		0,2,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,2,6488	AA,AG,GG		0.0233,0.0,0.0154	,,	331/561,248/478,248/478	83998922	2,12978	2199	4291	6490	SO:0001819	synonymous_variant	29948	exon6			AGGCACGTTCGAC	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.993G>A	16.37:g.83998922G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	28	4	0.142857	NM_182981	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37																																																																																				G|1.000;A|0.000	0.000	weak		0.697	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		A	83998922	G	A	83998922	2	1	23	1	0	0	0	0	0	0	0	1	11289	1132	40	1		1	OSGIN1	16	83998922	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2069434	83998922	6355831	3761	20217										
OSGIN1	29948	hgsc.bcm.edu	37	chr16	83999033	83999033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgcggtgaccccggcctcAgaccctgtcctcatcattgg	12	15	3	2	rs173776	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:83999033A>G	ENST00000343939.2	+	7	1487	c.1104A>G	c.(1102-1104)tcA>tcG	p.S368S	OSGIN1_ENST00000361711.3_Silent_p.S285S|OSGIN1_ENST00000393306.1_Silent_p.S285S			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	368					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCCCGGCCTCAGACCCTGTCC	0.711													G|||	1647	0.328874	0.7421	0.1715	5008	,	,		13678	0.1052		0.1978	False		,,,				2504	0.2474				p.S285S		Atlas-SNP	.											.	OSGIN1	33	.	0			c.A855G						PASS	.	G	,,	2804,1566		932,940,313	21	26	24		1104,855,855	-6.6	0.4	16	dbSNP_79	24	1482,7028		147,1188,2920	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	1079,2128,3233	GG,GA,AA		17.4148,35.8352,33.2764	,,	368/561,285/478,285/478	83999033	4286,8594	2185	4255	6440	SO:0001819	synonymous_variant	29948	exon6			GGCCTCAGACCCT	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1104A>G	16.37:g.83999033A>G		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	21	19	0.904762	NM_182981	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37																																																																																				A|0.701;G|0.299	0.299	strong		0.711	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		G	83999033	A	G	83999033	2	3	23	1	0	0	0	0	0	0	0	1	11289	175	7	3		3	OSGIN1	16	83999033	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	111	83999033	6355720	3762	20218										
OSGIN1	29948	hgsc.bcm.edu	37	chr16	83999548	83999548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacaacttcgtgaggtttgTgcaggggggcgccttggctg	18	8	0	1	rs62640905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:83999548T>C	ENST00000343939.2	+	7	2002	c.1619T>C	c.(1618-1620)gTg>gCg	p.V540A	NECAB2_ENST00000305202.4_5'Flank|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V457A|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V457A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	540					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GTGAGGTTTGTGCAGGGGGGC	0.662													T|||	40	0.00798722	0.0	0.013	5008	,	,		17559	0.0		0.0278	False		,,,				2504	0.0031				p.V457A		Atlas-SNP	.											.	OSGIN1	33	.	0			c.T1370C						PASS	.	T	ALA/VAL,ALA/VAL,ALA/VAL	14,4370		0,14,2178	14	15	15		1619,1370,1370	4.4	1	16	dbSNP_129	15	218,8354		5,208,4073	yes	missense,missense,missense	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	64,64,64	5,222,6251	CC,CT,TT		2.5432,0.3193,1.7907	possibly-damaging,possibly-damaging,possibly-damaging	540/561,457/478,457/478	83999548	232,12724	2192	4286	6478	SO:0001583	missense	29948	exon6			GGTTTGTGCAGGG	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1619T>C	16.37:g.83999548T>C	ENSP00000343376:p.Val540Ala	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	53	43	0.811321	NM_182981	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37		27	0.012362637362637362	0	0.0	6	0.016574585635359115	0	0.0	21	0.027704485488126648	T	16.86	3.238732	0.58995	0.003193	0.025432	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.37411	1.2;1.2;1.2	4.37	4.37	0.52481	.	0.065516	0.64402	D	0.000009	T	0.15739	0.0379	M	0.63428	1.95	0.80722	D	1	D	0.58268	0.982	B	0.44315	0.446	T	0.04811	-1.0925	10	0.24483	T	0.36	-26.2537	12.7349	0.57218	0.0:0.0:0.0:1.0	rs62640905	540	Q9UJX0	OSGI1_HUMAN	A	540;457;457	ENSP00000343376:V540A;ENSP00000355374:V457A;ENSP00000376983:V457A	ENSP00000343376:V540A	V	+	2	0	OSGIN1	82557049	1.000000	0.71417	0.954000	0.39281	0.681000	0.39784	7.645000	0.83430	1.606000	0.50161	0.260000	0.18958	GTG	T|0.985;C|0.015	0.015	strong		0.662	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		C	83999548	T	C	83999548	3	2	23	1	0	0	0	0	1	0	0	0	11289	1696	59	2	1645	2	OSGIN1	16	83999548	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	515	83999548	6355205	3763	20219										
NECAB2	54550	hgsc.bcm.edu	37	chr16	84012104	84012104	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctttgcagatggcgtcctTaatgagaaagaactggagga	12	6	1	3	rs925331	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84012104T>C	ENST00000305202.4	+	3	299	c.282T>C	c.(280-282)ctT>ctC	p.L94L	NECAB2_ENST00000565691.1_Missense_Mutation_p.L20S	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	94	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						ATGGCGTCCTTAATGAGAAAG	0.512													C|||	1641	0.327676	0.7988	0.2262	5008	,	,		21000	0.1181		0.1163	False		,,,				2504	0.1963				p.L94L		Atlas-SNP	.											.	NECAB2	36	.	0			c.T282C						PASS	.	C		3051,1349	448.5+/-348.7	1060,931,209	156	139	145		282	0.5	0.5	16	dbSNP_86	145	911,7689	778.0+/-407.7	63,785,3452	yes	coding-synonymous	NECAB2	NM_019065.2		1123,1716,3661	CC,CT,TT		10.593,30.6591,30.4769		94/387	84012104	3962,9038	2200	4300	6500	SO:0001819	synonymous_variant	54550	exon3			CGTCCTTAATGAG	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.282T>C	16.37:g.84012104T>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	99	80	0.808081	NM_019065	A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	CCDS10940.1																																																																																			T|0.692;C|0.308	0.308	strong		0.512	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		C	84012104	T	C	84012104	2	2	23	1	0	0	0	0	0	0	0	1	10305	1741	61	2		2	NECAB2	16	84012104	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12556	84012104	6342649	3764	20220										
HSDL1	83693	hgsc.bcm.edu	37	chr16	84158248	84158248	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagactcaggctgtgcagGataaggcttccttacgtagt	11	10	1	1	rs4378600	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84158248G>C	ENST00000219439.4	-	6	1156	c.980C>G	c.(979-981)tCc>tGc	p.S327C	HSDL1_ENST00000565275.1_5'Flank|HSDL1_ENST00000434463.3_Missense_Mutation_p.S272C	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	327			S -> C (in dbSNP:rs4378600). {ECO:0000269|PubMed:14702039}.			mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GGCTGTGCAGGATAAGGCTTC	0.428													G|||	1238	0.247204	0.236	0.1729	5008	,	,		21727	0.2331		0.3161	False		,,,				2504	0.2587				p.S327C		Atlas-SNP	.											.	HSDL1	23	.	0			c.C980G						PASS	.	G	CYS/SER,CYS/SER	1021,3379	378.0+/-322.7	118,785,1297	112	98	103		815,980	5.6	1	16	dbSNP_111	103	2505,6095	410.7+/-350.2	346,1813,2141	yes	missense,missense	HSDL1	NM_001146051.1,NM_031463.4	112,112	464,2598,3438	CC,CG,GG		29.1279,23.2045,27.1231	benign,benign	272/276,327/331	84158248	3526,9474	2200	4300	6500	SO:0001583	missense	83693	exon6			GTGCAGGATAAGG	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.980C>G	16.37:g.84158248G>C	ENSP00000219439:p.Ser327Cys	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	160	19	0.11875	NM_031463	B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	CCDS10942.1	546	0.25	115	0.23373983739837398	71	0.19613259668508287	123	0.21503496503496503	237	0.31266490765171506	G	13.14	2.147509	0.37923	0.232045	0.291279	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.83673	-1.12;-1.75	5.6	5.6	0.85130	.	0.580099	0.17534	N	0.170776	T	0.00012	0.0000	L	0.55481	1.735	0.80722	P	0.0	P;P	0.50710	0.726;0.938	B;B	0.40101	0.319;0.319	T	0.03619	-1.1019	9	0.56958	D	0.05	-30.9015	12.4939	0.55916	0.077:0.0:0.923:0.0	rs4378600;rs17652812;rs52833604;rs4378600	272;327	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	C	272;327	ENSP00000407437:S272C;ENSP00000219439:S327C	ENSP00000219439:S327C	S	-	2	0	HSDL1	82715749	0.982000	0.34865	0.993000	0.49108	0.401000	0.30781	4.775000	0.62346	2.808000	0.96608	0.650000	0.86243	TCC	G|0.737;C|0.263	0.263	strong		0.428	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		C	84158248	G	C	84158248	3	2	23	1	0	0	0	0	1	0	0	0	7393	1174	41	4	16	4	HSDL1	16	84158248	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	146144	84158248	6196505	3765	20221										
LRRC50	123872	hgsc.bcm.edu	37	chr16	84209815	84209815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgaggacccctctggccagCtactgatgccccccacctgc	9	19	1	1	rs2288021	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84209815C>G	ENST00000378553.5	+	11	2099	c.1975C>G	c.(1975-1977)Cta>Gta	p.L659V	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	659			L -> P (in dbSNP:rs2288022). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.|L -> V (in dbSNP:rs2288021).		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CTCTGGCCAGCTACTGATGCC	0.557													C|||	658	0.13139	0.0068	0.2406	5008	,	,		16998	0.0972		0.2078	False		,,,				2504	0.1789				p.L659V		Atlas-SNP	.											.	DNAAF1	81	.	0			c.C1975G						PASS	.	C	VAL/LEU	192,4208	119.2+/-156.9	6,180,2014	35	33	34		1975	0.3	0	16	dbSNP_100	34	1878,6722	329.9+/-319.0	234,1410,2656	yes	missense	DNAAF1	NM_178452.4	32	240,1590,4670	GG,GC,CC		21.8372,4.3636,15.9231	benign	659/726	84209815	2070,10930	2200	4300	6500	SO:0001583	missense	123872	exon11			GGCCAGCTACTGA	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1975C>G	16.37:g.84209815C>G	ENSP00000367815:p.Leu659Val	Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	122	94	0.770492	NM_178452	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	305	0.13965201465201466	5	0.01016260162601626	94	0.2596685082872928	50	0.08741258741258741	156	0.20580474934036938	C	9.473	1.096043	0.20552	0.043636	0.218372	ENSG00000154099	ENST00000378553	T	0.24350	1.86	4.67	0.294	0.15747	.	1.269100	0.05886	N	0.627428	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.999999999946489E-6	B;B	0.15473	0.013;0.013	B;B	0.21917	0.025;0.037	T	0.41270	-0.9518	9	0.40728	T	0.16	1.8768	2.8722	0.05620	0.1997:0.4697:0.0:0.3306	rs2288021	423;659	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	V	659	ENSP00000367815:L659V	ENSP00000367815:L659V	L	+	1	2	DNAAF1	82767316	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.449000	0.06812	0.214000	0.20742	-0.360000	0.07572	CTA	C|0.848;G|0.152	0.152	strong		0.557	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		G	84209815	C	G	84209815	3	3	23	1	0	0	0	0	1	0	0	0	9009	796	28	4	2017	4	LRRC50	16	84209815	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	51567	84209815	6144938	3766	20222										
ADAD2	161931	hgsc.bcm.edu	37	chr16	84227713	84227713	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcctgagaacagggtggCgtgggctctggagaggggac	18	9	1	2	rs78344060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84227713C>T	ENST00000315906.5	+	2	470				ADAD2_ENST00000268624.3_Missense_Mutation_p.R174C|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AACAGGGTGgcgtgggctctg	0.542													C|||	192	0.0383387	0.025	0.0029	5008	,	,		16875	0.0843		0.0159	False		,,,				2504	0.0573				p.R174C		Atlas-SNP	.											ADAD2,caecum,carcinoma,0,1	ADAD2	46	1	0			c.C520T						PASS	.	C	,CYS/ARG	115,4285	87.8+/-126.4	0,115,2085	79	71	74		,520	-0.5	0	16	dbSNP_131	74	181,8419	82.3+/-144.9	4,173,4123	yes	intron,missense	ADAD2	NM_001145400.1,NM_139174.3	,180	4,288,6208	TT,TC,CC		2.1047,2.6136,2.2769	,	,174/666	84227713	296,12704	2200	4300	6500	SO:0001627	intron_variant	161931	exon2			GGGTGGCGTGGGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.419-335C>T	16.37:g.84227713C>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	137	30	0.218978	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	58	0.026556776556776556	12	0.024390243902439025	2	0.0055248618784530384	33	0.057692307692307696	11	0.014511873350923483	C	7.789	0.711261	0.15239	0.026136	0.021047	ENSG00000140955	ENST00000268624	T	0.21031	2.03	2.79	-0.462	0.12168	.	13.425500	0.00166	N	0.000000	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21075	-1.0256	10	0.42905	T	0.14	.	2.4646	0.04549	0.2464:0.4688:0.0:0.2848	.	174	Q8NCV1-2	.	C	174	ENSP00000268624:R174C	ENSP00000268624:R174C	R	+	1	0	ADAD2	82785214	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.063000	0.03465	-0.070000	0.12908	-0.254000	0.11334	CGT	C|0.975;T|0.025	0.025	strong		0.542	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		T	84227713	C	T	84227713	1	4	23	0	1	0	0	0	0	0	0	0	232	768	27	1		1	ADAD2	16	84227713	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17898	84227713	6127040	3767	20223										
ADAD2	161931	hgsc.bcm.edu	37	chr16	84229892	84229892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccgaacccacccctgacaCctgccgtggcctgagcctca	8	19	1	2	rs141742506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84229892C>T	ENST00000315906.5	+	8	1494	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	ADAD2_ENST00000268624.3_Missense_Mutation_p.T563I|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	481	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ACCCCTGACACCTGCCGTGGC	0.687													C|||	15	0.00299521	0.0008	0.0029	5008	,	,		16705	0.0		0.0119	False		,,,				2504	0.0				p.T563I		Atlas-SNP	.											.	ADAD2	46	.	0			c.C1688T						PASS	.	C	ILE/THR,ILE/THR	12,4382		0,12,2185	36	45	42		1442,1688	-1.2	0.4	16	dbSNP_134	42	122,8462		1,120,4171	yes	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	89,89	1,132,6356	TT,TC,CC		1.4212,0.2731,1.0325	possibly-damaging,possibly-damaging	481/584,563/666	84229892	134,12844	2197	4292	6489	SO:0001583	missense	161931	exon9			CTGACACCTGCCG	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1442C>T	16.37:g.84229892C>T	ENSP00000325153:p.Thr481Ile	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	104	11	0.105769	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	C	4.708	0.131702	0.08981	0.002731	0.014212	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93659	-3.26;-3.26	4.63	-1.16	0.09678	Adenosine deaminase/editase (2);	0.429950	0.20572	N	0.089706	D	0.88633	0.6489	M	0.79258	2.445	0.25992	N	0.982239	P;P	0.52692	0.837;0.955	P;P	0.47528	0.448;0.549	T	0.82444	-0.0454	10	0.44086	T	0.13	-29.923	2.7582	0.05299	0.3015:0.3169:0.294:0.0877	.	481;563	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	I	481;563	ENSP00000325153:T481I;ENSP00000268624:T563I	ENSP00000268624:T563I	T	+	2	0	ADAD2	82787393	0.000000	0.05858	0.434000	0.26772	0.036000	0.12997	-0.303000	0.08210	0.026000	0.15269	-1.792000	0.00626	ACC	C|0.991;T|0.009	0.009	strong		0.687	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		T	84229892	C	T	84229892	3	4	23	1	0	0	0	0	1	0	0	0	232	507	18	2	1722	2	ADAD2	16	84229892	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2179	84229892	6124861	3768	20224										
KCNG4	93107	hgsc.bcm.edu	37	chr16	84256103	84256103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatctggcctggcacactgCggggcaccatgtccccgtag	12	16	1	0	rs35649980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84256103C>T	ENST00000308251.4	-	3	1348	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	427			R -> H (in dbSNP:rs35649980).		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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGGCACACTGCGGGGCACCAT	0.632													C|||	321	0.0640974	0.0159	0.0375	5008	,	,		19028	0.1002		0.0855	False		,,,				2504	0.089				p.R427H		Atlas-SNP	.											.	KCNG4	71	.	0			c.G1280A						PASS	.	C	HIS/ARG	104,4296	81.4+/-119.9	1,102,2097	53	50	51		1280	5.6	1	16	dbSNP_126	51	649,7951	163.5+/-216.0	19,611,3670	yes	missense	KCNG4	NM_172347.2	29	20,713,5767	TT,TC,CC		7.5465,2.3636,5.7923	benign	427/520	84256103	753,12247	2200	4300	6500	SO:0001583	missense	93107	exon3			ACACTGCGGGGCA	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1280G>A	16.37:g.84256103C>T	ENSP00000312129:p.Arg427His	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	126	111	0.880952	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	149	0.06822344322344322	11	0.022357723577235773	20	0.055248618784530384	55	0.09615384615384616	63	0.08311345646437995	C	26.8	4.771200	0.90108	0.023636	0.075465	ENSG00000168418	ENST00000308251	T	0.44881	0.91	5.61	5.61	0.85477	Ion transport (1);	0.165528	0.48286	D	0.000200	T	0.01092	0.0036	L	0.31207	0.915	0.80722	D	1	P	0.47191	0.891	B	0.42282	0.382	T	0.00374	-1.1780	10	0.56958	D	0.05	.	18.6265	0.91342	0.0:1.0:0.0:0.0	rs35649980	427	Q8TDN1	KCNG4_HUMAN	H	427	ENSP00000312129:R427H	ENSP00000312129:R427H	R	-	2	0	KCNG4	82813604	0.899000	0.30636	0.999000	0.59377	0.974000	0.67602	4.934000	0.63491	2.631000	0.89168	0.655000	0.94253	CGC	C|0.935;T|0.065	0.065	strong		0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84256103	C	T	84256103	3	4	23	1	0	0	0	0	1	0	0	0	8030	768	27	1	281	1	KCNG4	16	84256103	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26211	84256103	6098650	3769	20225										
KCNG4	93107	hgsc.bcm.edu	37	chr16	84256410	84256410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttctccaggtaggagctccCgctcggcctctcgccgtcct	10	18	2	0	rs7196482	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84256410C>T	ENST00000308251.4	-	3	1041	c.973G>A	c.(973-975)Ggg>Agg	p.G325R		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	325			G -> R (in dbSNP:rs7196482).		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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TAGGAGCTCCCGCTCGGCCTC	0.677													C|||	885	0.176717	0.2156	0.1686	5008	,	,		17359	0.0506		0.2266	False		,,,				2504	0.2086				p.G325R		Atlas-SNP	.											.	KCNG4	71	.	0			c.G973A						PASS	.	C	ARG/GLY	942,3458	340.2+/-306.1	109,724,1367	30	33	32		973	-2.7	0	16	dbSNP_116	32	1922,6678	321.7+/-315.2	212,1498,2590	no	missense	KCNG4	NM_172347.2	125	321,2222,3957	TT,TC,CC		22.3488,21.4091,22.0308	probably-damaging	325/520	84256410	2864,10136	2200	4300	6500	SO:0001583	missense	93107	exon3			AGCTCCCGCTCGG	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.973G>A	16.37:g.84256410C>T	ENSP00000312129:p.Gly325Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	90	18	0.2	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	369	0.16895604395604397	101	0.20528455284552846	63	0.17403314917127072	26	0.045454545454545456	179	0.23614775725593667	C	8.185	0.794792	0.16327	0.214091	0.223488	ENSG00000168418	ENST00000308251	D	0.97041	-4.22	5.61	-2.74	0.05932	Ion transport (1);	0.310951	0.34268	N	0.004108	T	0.00552	0.0018	M	0.75085	2.285	0.58432	P	6.999999999979245E-6	D	0.56521	0.976	P	0.51516	0.672	T	0.50642	-0.8804	9	0.72032	D	0.01	.	8.1708	0.31254	0.0:0.3567:0.1088:0.5345	rs7196482;rs59048729;rs7196482	325	Q8TDN1	KCNG4_HUMAN	R	325	ENSP00000312129:G325R	ENSP00000312129:G325R	G	-	1	0	KCNG4	82813911	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.117000	0.10708	-0.433000	0.07286	0.655000	0.94253	GGG	C|0.810;T|0.190	0.190	strong		0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84256410	C	T	84256410	3	4	23	1	0	0	0	0	1	0	0	0	8030	652	23	1	588	1	KCNG4	16	84256410	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	307	84256410	6098343	3770	20226										
KLHL36	79786	hgsc.bcm.edu	37	chr16	84695280	84695280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctaccgcaagaacctgctAtgctacgaccaccggacaga	8	16	0	2	rs17755815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:84695280A>G	ENST00000564996.1	+	5	1533	c.1392A>G	c.(1390-1392)ctA>ctG	p.L464L	KLHL36_ENST00000258157.5_Silent_p.L401L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	464					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGAACCTGCTATGCTACGACC	0.627													A|||	887	0.177117	0.3714	0.1081	5008	,	,		15033	0.0347		0.2068	False		,,,				2504	0.0798				p.L464L		Atlas-SNP	.											KLHL36,NS,carcinoma,0,1	KLHL36	51	1	0			c.A1392G						PASS	.	A		1570,2828	491.5+/-362.1	277,1016,906	83	78	80		1392	1.4	1	16	dbSNP_123	80	1956,6644	344.6+/-325.4	231,1494,2575	no	coding-synonymous	KLHL36	NM_024731.2		508,2510,3481	GG,GA,AA		22.7442,35.698,27.1273		464/617	84695280	3526,9472	2199	4300	6499	SO:0001819	synonymous_variant	79786	exon5			CCTGCTATGCTAC	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1392A>G	16.37:g.84695280A>G		Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	123	103	0.837398	NM_024731	Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	CCDS10948.1																																																																																			A|0.757;G|0.243	0.243	strong		0.627	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			G	84695280	A	G	84695280	2	3	23	1	0	0	0	0	0	0	0	1	8389	436	16	2		2	KLHL36	16	84695280	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	438870	84695280	5659473	3771	20227										
MTHFSD	64779	hgsc.bcm.edu	37	chr16	86565882	86565882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcaccctcccctggtgggGagccaggggctgcctccatg	16	15	0	0	rs3751802	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:86565882G>C	ENST00000360900.6	-	8	912	c.887C>G	c.(886-888)tCc>tGc	p.S296C	MTHFSD_ENST00000322911.6_Missense_Mutation_p.S295C|MTHFSD_ENST00000543303.2_Missense_Mutation_p.S295C|MTHFSD_ENST00000546093.1_Missense_Mutation_p.S133C|MTHFSD_ENST00000381214.5_Missense_Mutation_p.S296C	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	296			S -> C (in dbSNP:rs3751802).				nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CCCTGGTGGGGAGCCAGGGGC	0.667													G|||	1332	0.265974	0.3434	0.3617	5008	,	,		14758	0.3393		0.1292	False		,,,				2504	0.1585				p.S296C		Atlas-SNP	.											.	MTHFSD	52	.	0			c.C887G						PASS	.	G	CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER	931,2819		143,645,1087	13	17	15		887,887,884,827,884	2.1	0	16	dbSNP_107	15	960,7224		65,830,3197	yes	missense,missense,missense,missense,missense	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	112,112,112,112,112	208,1475,4284	CC,CG,GG		11.7302,24.8267,15.8455	benign,benign,benign,benign,benign	296/384,296/384,295/383,276/364,295/383	86565882	1891,10043	1875	4092	5967	SO:0001583	missense	64779	exon8			GGTGGGGAGCCAG	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.887C>G	16.37:g.86565882G>C	ENSP00000354152:p.Ser296Cys	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	134	19	0.141791	NM_001159377	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	560	0.2564102564102564	182	0.3699186991869919	100	0.27624309392265195	188	0.32867132867132864	90	0.11873350923482849	G	10.62	1.402316	0.25291	0.248267	0.117302	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	T;T;T;T	0.19250	2.42;2.42;2.42;2.16	5.28	2.07	0.26955	.	2.349280	0.01872	U	0.037275	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.002;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.44267	-0.9339	9	0.52906	T	0.07	.	8.4011	0.32586	0.089:0.3996:0.5114:0.0	rs3751802;rs3751802	296;295;296;295	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	C	294;296;296;295;133	ENSP00000370612:S296C;ENSP00000354152:S296C;ENSP00000326777:S295C;ENSP00000438761:S133C	ENSP00000326777:S295C	S	-	2	0	MTHFSD	85123383	0.127000	0.22367	0.005000	0.12908	0.224000	0.24922	2.975000	0.49281	0.181000	0.19994	0.609000	0.83330	TCC	G|0.733;C|0.267	0.267	strong		0.667	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		C	86565882	G	C	86565882	3	2	23	1	0	0	0	0	1	0	0	0	9933	1174	41	4	268	4	MTHFSD	16	86565882	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1870602	86565882	3788871	3772	20228										
MTHFSD	64779	hgsc.bcm.edu	37	chr16	86585743	86585743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgatgttttggcaagccaGataagacccctagttaggca	10	8	0	3	rs34005514	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:86585743G>C	ENST00000360900.6	-	3	158	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	MTHFSD_ENST00000322911.6_Missense_Mutation_p.L44V|MTHFSD_ENST00000543303.2_Intron|MTHFSD_ENST00000568037.1_Intron|MTHFSD_ENST00000546093.1_Intron|MTHFSD_ENST00000381214.5_Intron	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	45			L -> V (in dbSNP:rs34005514).				nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGCAAGCCAGATAAGACCCC	0.473													G|||	95	0.0189696	0.0053	0.0274	5008	,	,		19532	0.004		0.0517	False		,,,				2504	0.0133				p.L45V		Atlas-SNP	.											.	MTHFSD	52	.	0			c.C133G						PASS	.	G	VAL/LEU,,,VAL/LEU,VAL/LEU	43,3753		0,43,1855	151	153	152		133,,,73,130	-0.4	0.6	16	dbSNP_126	152	398,7840		14,370,3735	yes	missense,intron,intron,missense,missense	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	32,,,32,32	14,413,5590	CC,CG,GG		4.8313,1.1328,3.6646	,,,,	45/384,,,25/364,44/383	86585743	441,11593	1898	4119	6017	SO:0001583	missense	64779	exon3			AAGCCAGATAAGA	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.133C>G	16.37:g.86585743G>C	ENSP00000354152:p.Leu45Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	142	113	0.795775	NM_001159377	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	55	0.025183150183150184	2	0.0040650406504065045	8	0.022099447513812154	4	0.006993006993006993	41	0.05408970976253298	G	10.80	1.453214	0.26161	0.011328	0.048313	ENSG00000103248	ENST00000543303;ENST00000360900;ENST00000322911	T;T	0.41400	1.0;1.0	5.93	-0.438	0.12268	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	1.474430	0.04126	N	0.317098	T	0.04724	0.0128	N	0.04297	-0.235	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.23852	0.049;0.029	T	0.23726	-1.0180	10	0.35671	T	0.21	-11.0693	14.9226	0.70851	0.0:0.419:0.4829:0.0981	rs34005514	45;44	Q2M296;Q2M296-2	MTHSD_HUMAN;.	V	43;45;44	ENSP00000354152:L45V;ENSP00000326777:L44V	ENSP00000326777:L44V	L	-	1	2	MTHFSD	85143244	0.057000	0.20700	0.564000	0.28396	0.964000	0.63967	0.453000	0.21811	0.070000	0.16634	0.655000	0.94253	CTG	G|0.968;C|0.032	0.032	strong		0.473	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		C	86585743	G	C	86585743	3	2	23	1	0	0	0	0	1	0	0	0	9933	933	33	4	1042	4	MTHFSD	16	86585743	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19861	86585743	3769010	3773	20229										
ZCCHC14	23174	hgsc.bcm.edu	37	chr16	87445270	87445270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggtctggtacacccctgcTgtccctgccatgaagttctg	11	13	2	1	rs3748399	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:87445270T>C	ENST00000268616.4	-	12	2863	c.2646A>G	c.(2644-2646)acA>acG	p.T882T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	882							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACACCCCTGCTGTCCCTGCCA	0.597													T|||	571	0.114018	0.1551	0.0778	5008	,	,		13076	0.1448		0.0497	False		,,,				2504	0.1186				p.T882T		Atlas-SNP	.											ZCCHC14,rectum,carcinoma,-2,1	ZCCHC14	87	1	0			c.A2646G						scavenged	.	T		528,3868	235.2+/-247.8	32,464,1702	65	53	57		2646	-10.6	0	16	dbSNP_107	57	541,8059	148.5+/-203.7	21,499,3780	no	coding-synonymous	ZCCHC14	NM_015144.2		53,963,5482	CC,CT,TT		6.2907,12.0109,8.2256		882/950	87445270	1069,11927	2198	4300	6498	SO:0001819	synonymous_variant	23174	exon12			CCCTGCTGTCCCT	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2646A>G	16.37:g.87445270T>C		Somatic	87	2	0.0229885		WXS	Illumina HiSeq	Phase_I	61	54	0.885246	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	CCDS10961.1																																																																																			T|0.901;C|0.099	0.099	strong		0.597	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		C	87445270	T	C	87445270	2	2	23	1	0	0	0	0	0	0	0	1	17580	1567	55	3		3	ZCCHC14	16	87445270	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	859527	87445270	2909483	3774	20230										
ZCCHC14	23174	hgsc.bcm.edu	37	chr16	87493737	87493737	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctcagttcttggagtgaTctgagggaacagaaacagaa	13	7	3	4	rs11648852	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:87493737T>C	ENST00000268616.4	-	2	377	c.160A>G	c.(160-162)Atc>Gtc	p.I54V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	54			I -> V (in dbSNP:rs11648852).				nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CTTGGAGTGATCTGAGGGAAC	0.438													T|||	637	0.127196	0.0666	0.1182	5008	,	,		17397	0.2272		0.1183	False		,,,				2504	0.1217				p.I54V		Atlas-SNP	.											.	ZCCHC14	87	.	0			c.A160G						PASS	.	T	VAL/ILE	406,3990	199.8+/-223.2	14,378,1806	113	109	110		160	-3	0	16	dbSNP_120	110	1110,7490	230.7+/-264.9	78,954,3268	yes	missense-near-splice	ZCCHC14	NM_015144.2	29	92,1332,5074	CC,CT,TT		12.907,9.2357,11.6651	benign	54/950	87493737	1516,11480	2198	4300	6498	SO:0001630	splice_region_variant	23174	exon2			GAGTGATCTGAGG	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.160-1A>G	16.37:g.87493737T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	157	115	0.732484	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	321	0.14697802197802198	36	0.07317073170731707	50	0.13812154696132597	139	0.243006993006993	96	0.1266490765171504	T	0.041	-1.284746	0.01398	0.092357	0.12907	ENSG00000140948	ENST00000268616	T	0.15372	2.43	5.01	-3.02	0.05446	.	1.071750	0.07100	N	0.840201	T	0.00012	0.0000	N	0.00436	-1.5	0.58432	P	1.0000000000287557E-6	B	0.09022	0.002	B	0.06405	0.002	T	0.48068	-0.9067	9	0.14656	T	0.56	-10.8316	13.4733	0.61292	0.0:0.6866:0.0:0.3134	rs11648852;rs52791527;rs59463424;rs11648852	54	Q8WYQ9	ZCH14_HUMAN	V	54	ENSP00000268616:I54V	ENSP00000268616:I54V	I	-	1	0	ZCCHC14	86051238	0.967000	0.33354	0.020000	0.16555	0.005000	0.04900	0.450000	0.21762	-0.381000	0.07882	-0.290000	0.09829	ATC	T|0.873;C|0.127	0.127	strong		0.438	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Missense_Mutation	C	87493737	T	C	87493737	5	2	23	1	0	0	0	0	0	0	1	0	17580	1449	50	2	2737	2	ZCCHC14	16	87493737	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	48467	87493737	2861016	3775	20231										
BANP	54971	hgsc.bcm.edu	37	chr16	88066717	88066717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctgttgcccccacagagCcgatgatgagcaccccacct	8	18	0	3	rs74992447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:88066717C>T	ENST00000393207.1	+	9	1263	c.1042C>T	c.(1042-1044)Ccg>Tcg	p.P348S	BANP_ENST00000355022.4_Missense_Mutation_p.P317S|BANP_ENST00000393208.2_Missense_Mutation_p.P317S|BANP_ENST00000355163.5_Missense_Mutation_p.P323S|BANP_ENST00000286122.7_Missense_Mutation_p.P348S|BANP_ENST00000479780.2_Missense_Mutation_p.P317S|BANP_ENST00000538234.1_Missense_Mutation_p.P356S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCCACAGAGCCGATGATGAG	0.647													c|||	923	0.184305	0.1672	0.0735	5008	,	,		15135	0.1349		0.1243	False		,,,				2504	0.3988				p.P356S		Atlas-SNP	.											BANP,rectum,carcinoma,-1,1	BANP	67	1	0			c.C1066T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	698,3698	284.9+/-277.9	49,600,1549	28	25	26		1066,967,949,1066,1042,949,949	2.7	1	16	dbSNP_131	26	889,7711	194.4+/-239.8	59,771,3470	no	missense,missense,missense,missense,missense,missense,missense	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	74,74,74,74,74,74,74	108,1371,5019	TT,TC,CC		10.3372,15.8781,12.2114	benign,benign,benign,benign,benign,benign,benign	356/506,323/498,317/467,356/509,348/520,317/470,317/492	88066717	1587,11409	2198	4300	6498	SO:0001583	missense	54971	exon9			ACAGAGCCGATGA	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1042C>T	16.37:g.88066717C>T	ENSP00000376902:p.Pro348Ser	Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	287	54	0.188153	NM_001173542	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	CCDS54054.1	283	0.1295787545787546	84	0.17073170731707318	37	0.10220994475138122	58	0.10139860139860139	104	0.13720316622691292	C	0.012	-1.671606	0.00758	0.158781	0.103372	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	3.75	2.65	0.31530	.	0.536094	0.20729	N	0.086754	T	0.00039	0.0001	N	0.03608	-0.345	0.45554	P	0.0014979999999999993	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001	T	0.22452	-1.0216	8	0.09338	T	0.73	.	7.0763	0.25207	0.7505:0.2495:0.0:0.0	.	356;323;317;348;317;317	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	S	348;323;313;317;317;317;317;356;348	.	ENSP00000286122:P348S	P	+	1	0	BANP	86624218	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	1.255000	0.32909	0.625000	0.30304	0.305000	0.20034	CCG	C|0.875;T|0.125	0.125	strong		0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		T	88066717	C	T	88066717	3	4	23	1	0	0	0	0	1	0	0	0	1310	739	26	2	1114	2	BANP	16	88066717	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	572980	88066717	2288036	3776	20232										
CTU2	9780	hgsc.bcm.edu	37	chr16	88779132	88779132	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcttcctccagcagcagCatgtgctgggggccgggggt	16	12	0	0	rs2290895	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:88779132C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.H186Y|CTU2_ENST00000378384.3_Missense_Mutation_p.H99Y|CTU2_ENST00000312060.5_Missense_Mutation_p.H186Y|CTU2_ENST00000567949.1_Missense_Mutation_p.H257Y	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CCAGCAGCAGCATGTGCTGGG	0.701													C|||	594	0.11861	0.2262	0.0778	5008	,	,		10102	0.0605		0.1143	False		,,,				2504	0.0665				p.H186Y		Atlas-SNP	.											.	CTU2	66	.	0			c.C556T						PASS	.	C	TYR/HIS,TYR/HIS	945,3435		94,757,1339	18	23	21		556,556	3.5	0.9	16	dbSNP_100	21	1044,7540		60,924,3308	yes	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	83,83	154,1681,4647	TT,TC,CC		12.1622,21.5753,15.3425	benign,benign	186/516,186/486	88779132	1989,10975	2190	4292	6482	SO:0001628	intergenic_variant	348180	exon7			CAGCAGCATGTGC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779132C>T		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	219	29	0.13242	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	271	0.12408424908424909	115	0.23373983739837398	39	0.10773480662983426	30	0.05244755244755245	87	0.11477572559366754	C	14.65	2.599754	0.46318	0.215753	0.121622	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.18016	2.24;2.5;2.51	4.46	3.49	0.39957	.	0.600559	0.16874	N	0.195994	T	0.00012	0.0000	L	0.51422	1.61	0.45452	P	0.0015800000000000258	P;P;P	0.45902	0.868;0.868;0.867	B;B;B	0.40825	0.341;0.32;0.171	T	0.36529	-0.9744	9	0.11794	T	0.64	.	12.8476	0.57839	0.1649:0.8351:0.0:0.0	rs2290895;rs57345845	99;186;186	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	Y	99;186;186	ENSP00000367635:H99Y;ENSP00000308617:H186Y;ENSP00000388320:H186Y	ENSP00000308617:H186Y	H	+	1	0	CTU2	87306633	0.000000	0.05858	0.924000	0.36721	0.685000	0.39939	-0.113000	0.10774	0.967000	0.38186	0.650000	0.86243	CAT	C|0.860;T|0.140	0.140	strong		0.701	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		T	88779132	C	T	88779132	1	4	23	0	1	0	0	0	0	0	0	0	4048	710	25	2		2	CTU2	16	88779132	IGR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	712415	88779132	1575621	3777	20233										
CTU2	9780	hgsc.bcm.edu	37	chr16	88780090	88780090	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcacggggacgtggtggtGgtgcggcccatgcgggacca	20	11	0	0	rs2290904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:88780090G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Silent_p.V303V|CTU2_ENST00000378384.3_Silent_p.V216V|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Silent_p.V303V|CTU2_ENST00000567949.1_Silent_p.V374V	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						ACGTGGTGGTGGTGCGGCCCA	0.652													G|||	723	0.144369	0.2322	0.0865	5008	,	,		18261	0.0625		0.1372	False		,,,				2504	0.1585				p.V303V		Atlas-SNP	.											CTU2_ENST00000453996,NS,carcinoma,0,4	CTU2	66	4	0			c.G909A						PASS	.	G	,	981,3399	364.4+/-316.9	95,791,1304	74	71	72		909,909	3.7	1	16	dbSNP_100	72	1236,7352	246.5+/-274.9	82,1072,3140	no	coding-synonymous,coding-synonymous	CTU2	NM_001012759.1,NM_001012762.1	,	177,1863,4444	AA,AG,GG		14.3922,22.3973,17.0959	,	303/516,303/486	88780090	2217,10751	2190	4294	6484	SO:0001628	intergenic_variant	348180	exon9			GGTGGTGGTGCGG	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780090G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	127	20	0.15748	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	CCDS54058.1																																																																																			G|0.834;A|0.166	0.166	strong		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		A	88780090	G	A	88780090	1	1	23	0	1	0	0	0	0	0	0	0	4048	1335	47	2		2	CTU2	16	88780090	IGR	SNP	G	TCGA-GR-7353-01A-11D-2210-10	958	88780090	1574663	3778	20234										
CTU2	9780	hgsc.bcm.edu	37	chr16	88781040	88781040	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctcctcgcgtctctcccAgatgcagtcacccatccccc	6	21	2	1	rs8059048	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:88781040A>G	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.Q416R|CTU2_ENST00000378384.3_Missense_Mutation_p.Q329R|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Missense_Mutation_p.Q416R|CTU2_ENST00000567949.1_Missense_Mutation_p.Q487R	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CGTCTCTCCCAGATGCAGTCA	0.697													A|||	1612	0.321885	0.1793	0.3746	5008	,	,		14539	0.6647		0.1958	False		,,,				2504	0.2536				p.Q416R		Atlas-SNP	.											CTU2_ENST00000453996,NS,carcinoma,0,4	CTU2	66	4	0			c.A1247G						PASS	.	A	ARG/GLN,ARG/GLN	890,3492	338.6+/-305.4	104,682,1405	45	46	45		1247,1247	1.9	0.1	16	dbSNP_116	45	1636,6956	299.7+/-304.6	171,1294,2831	yes	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	43,43	275,1976,4236	GG,GA,AA		19.041,20.3104,19.4697	benign,benign	416/516,416/486	88781040	2526,10448	2191	4296	6487	SO:0001628	intergenic_variant	348180	exon12			TCTCCCAGATGCA	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88781040A>G		Somatic	208	1	0.00480769		WXS	Illumina HiSeq	Phase_I	144	120	0.833333	NM_001012759	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	734	0.3360805860805861	84	0.17073170731707318	126	0.34806629834254144	375	0.6555944055944056	149	0.19656992084432717	A	10.10	1.258563	0.23051	0.203104	0.19041	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.52754	0.65;0.65;0.65	4.32	1.86	0.25419	.	0.070349	0.64402	D	0.000019	T	0.00012	0.0000	L	0.52573	1.65	0.58432	P	4.000000000004E-6	B;B;B	0.15473	0.013;0.01;0.012	B;B;B	0.18263	0.013;0.021;0.009	T	0.35475	-0.9787	9	0.39692	T	0.17	.	4.6795	0.12727	0.4951:0.1719:0.0:0.333	rs8059048;rs60525594;rs8059048	329;416;416	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	R	329;416;416	ENSP00000367635:Q329R;ENSP00000308617:Q416R;ENSP00000388320:Q416R	ENSP00000308617:Q416R	Q	+	2	0	CTU2	87308541	0.004000	0.15560	0.077000	0.20336	0.048000	0.14542	-0.277000	0.08502	0.108000	0.17862	0.379000	0.24179	CAG	A|0.751;G|0.249	0.249	strong		0.697	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		G	88781040	A	G	88781040	1	3	23	0	1	0	0	0	0	0	0	0	4048	188	7	3		3	CTU2	16	88781040	IGR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	950	88781040	1573713	3779	20235										
ZNF276	92822	hgsc.bcm.edu	37	chr16	89799950	89799950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcacggccgtgtaccgaggCgctgacggcatgaaggtgag	17	10	0	3	rs17177891	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89799950C>T	ENST00000443381.2	+	8	1438	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	ZNF276_ENST00000568064.1_Silent_p.G355G|ZNF276_ENST00000289816.5_Silent_p.G372G|ZNF276_ENST00000446326.2_Silent_p.G233G	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTACCGAGGCGCTGACGGCA	0.627													C|||	364	0.0726837	0.0068	0.0187	5008	,	,		17139	0.2579		0.0656	False		,,,				2504	0.0164				p.G447G		Atlas-SNP	.											ZNF276_ENST00000443381,colon,carcinoma,0,2	ZNF276	70	2	0			c.C1341T						scavenged	.	C	,	91,4303	73.1+/-111.1	0,91,2106	89	81	84		1341,1116	-6.2	0.2	16	dbSNP_123	84	696,7904	169.9+/-221.1	27,642,3631	no	coding-synonymous,coding-synonymous	ZNF276	NM_001113525.1,NM_152287.3	,	27,733,5737	TT,TC,CC		8.093,2.071,6.0566	,	447/615,372/540	89799950	787,12207	2197	4300	6497	SO:0001819	synonymous_variant	92822	exon8			CCGAGGCGCTGAC	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1341C>T	16.37:g.89799950C>T		Somatic	282	2	0.0070922		WXS	Illumina HiSeq	Phase_I	200	33	0.165	NM_001113525	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1																																																																																			C|0.932;T|0.068	0.068	strong		0.627	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		T	89799950	C	T	89799950	2	4	23	1	0	0	0	0	0	0	0	1	17808	755	27	1		1	ZNF276	16	89799950	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1018910	89799950	554803	3780	20236										
FANCA	2175	hgsc.bcm.edu	37	chr16	89807233	89807233	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgaggtcagatgtgacgaCagcaggcccatcaaggagaa	13	8	2	4	rs11649210	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89807233C>G	ENST00000389301.3	-	38	3837	c.3807G>C	c.(3805-3807)ctG>ctC	p.L1269L	FANCA_ENST00000568369.1_Silent_p.L1269L|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1269					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGTGACGACAGCAGGCCCA	0.463			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	691	0.137979	0.1543	0.0346	5008	,	,		17285	0.2629		0.0736	False		,,,				2504	0.1268				p.L1269L		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.G3807C						PASS	.	G	,,	629,3767	764.9+/-413.3	38,553,1607	84	77	79		3807,,	-7.2	0.1	16	dbSNP_120	79	774,7826	781.2+/-407.6	32,710,3558	no	coding-synonymous,utr-3,utr-3	FANCA,ZNF276	NM_000135.2,NM_001113525.1,NM_152287.3	,,	70,1263,5165	GG,GC,CC		9.0,14.3085,10.7956	,,	1269/1456,,	89807233	1403,11593	2198	4300	6498	SO:0001819	synonymous_variant	2175	exon38	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGACGACAGCAGG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3807G>C	16.37:g.89807233C>G		Somatic	261	0	0		WXS	Illumina HiSeq	Phase_I	226	24	0.106195	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			C|0.892;G|0.108	0.108	strong		0.463	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			G	89807233	C	G	89807233	2	3	23	1	0	0	0	0	0	0	0	1	5662	465	17	4		4	FANCA	16	89807233	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7283	89807233	547520	3781	20237										
FANCA	2175	hgsc.bcm.edu	37	chr16	89809319	89809319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccagtccgggttgggtgcTggggaggcagcctcagggga	20	9	1	0	rs1800358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89809319T>C	ENST00000389301.3	-	37	3684	c.3654A>G	c.(3652-3654)ccA>ccG	p.P1218P	FANCA_ENST00000568369.1_Silent_p.P1218P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1218					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTTGGGTGCTGGGGAGGCAG	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	789	0.157548	0.2216	0.0389	5008	,	,		18197	0.2629		0.0765	False		,,,				2504	0.1299				p.P1218P		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.A3654G						PASS	.	C		924,3472	736.3+/-410.8	87,750,1361	71	71	71		3654	-9.7	0	16	dbSNP_89	71	791,7809	783.2+/-407.6	36,719,3545	no	coding-synonymous	FANCA	NM_000135.2		123,1469,4906	CC,CT,TT		9.1977,21.0191,13.1964		1218/1456	89809319	1715,11281	2198	4300	6498	SO:0001819	synonymous_variant	2175	exon37	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GGGTGCTGGGGAG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3654A>G	16.37:g.89809319T>C		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	98	14	0.142857	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			T|0.874;C|0.126	0.126	strong		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89809319	T	C	89809319	2	2	23	1	0	0	0	0	0	0	0	1	5662	1567	55	3		3	FANCA	16	89809319	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2086	89809319	545434	3782	20238										
FANCA	2175	hgsc.bcm.edu	37	chr16	89815152	89815152	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctgctgccgcagaggacaGacgaaggcaggcggaggagg	19	9	0	2	rs17233497	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89815152G>A	ENST00000389301.3	-	33	3293	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	FANCA_ENST00000568369.1_Missense_Mutation_p.S1088F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1088			S -> F (in FA; dbSNP:rs17233497). {ECO:0000269|PubMed:10094191, ECO:0000269|PubMed:18987736}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAGAGGACAGACGAAGGCAG	0.587			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	117	0.0233626	0.0038	0.0187	5008	,	,		21735	0.0218		0.0646	False		,,,				2504	0.0123				p.S1088F		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	FANCA,lymph_node,lymphoid_neoplasm,0,1	FANCA	99	1	0			c.C3263T	GRCh37	CM992318	FANCA	M	rs17233497	PASS	.	G	PHE/SER	73,4323	62.9+/-100.1	0,73,2125	80	59	66		3263	3.7	0	16	dbSNP_123	66	697,7903	172.7+/-223.4	27,643,3630	yes	missense	FANCA	NM_000135.2	155	27,716,5755	AA,AG,GG		8.1047,1.6606,5.9249	possibly-damaging	1088/1456	89815152	770,12226	2198	4300	6498	SO:0001583	missense	2175	exon33	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGGACAGACGAAG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3263C>T	16.37:g.89815152G>A	ENSP00000373952:p.Ser1088Phe	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	56	9	0.160714	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	73	0.033424908424908424	3	0.006097560975609756	9	0.024861878453038673	11	0.019230769230769232	50	0.06596306068601583	G	14.27	2.484066	0.44147	0.016606	0.081047	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.85955	-2.05	4.63	3.68	0.42216	.	0.363675	0.24115	N	0.041417	T	0.32556	0.0833	M	0.72118	2.19	0.21020	N	0.999803	P;P;P	0.50272	0.906;0.933;0.933	P;B;B	0.49665	0.618;0.401;0.401	T	0.58589	-0.7610	10	0.66056	D	0.02	-6.0479	8.8363	0.35115	0.1022:0.0:0.8978:0.0	rs17233497;rs17233497	65;1088;1088	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	F	1088;65	ENSP00000373952:S1088F	ENSP00000306281:S65F	S	-	2	0	FANCA	88342653	0.024000	0.19004	0.003000	0.11579	0.202000	0.24057	2.054000	0.41335	1.329000	0.45376	0.462000	0.41574	TCT	G|0.954;A|0.046	0.046	strong		0.587	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89815152	G	A	89815152	3	1	23	1	0	0	0	0	1	0	0	0	5662	942	33	2	1148	2	FANCA	16	89815152	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5833	89815152	539601	3783	20239										
FANCA	2175	hgsc.bcm.edu	37	chr16	89839766	89839766	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctcctcagcagagttggGttctgccctcactcccaggg	13	14	3	1	rs17232910	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89839766G>C	ENST00000389301.3	-	22	1957	c.1927C>G	c.(1927-1929)Ccc>Gcc	p.P643A	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.P643A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	643			P -> A (in dbSNP:rs17232910).		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAGAGTTGGGTTCTGCCCTC	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	371	0.0740815	0.0038	0.0202	5008	,	,		17511	0.2698		0.0626	False		,,,				2504	0.0174				p.P643A		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.C1927G						PASS	.	G	ALA/PRO	51,4029		0,51,1989	31	26	28		1927	-2.4	0	16	dbSNP_123	28	519,7361		11,497,3432	yes	missense	FANCA	NM_000135.2	27	11,548,5421	CC,CG,GG		6.5863,1.25,4.7659	benign	643/1456	89839766	570,11390	2040	3940	5980	SO:0001583	missense	2175	exon22	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGTTGGGTTCTGC	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1927C>G	16.37:g.89839766G>C	ENSP00000373952:p.Pro643Ala	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	114	12	0.105263	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	190	0.08699633699633699	3	0.006097560975609756	10	0.027624309392265192	127	0.22202797202797203	50	0.06596306068601583	G	6.741	0.505585	0.12822	0.0125	0.065863	ENSG00000187741	ENST00000389301	D	0.83591	-1.74	3.82	-2.44	0.06502	.	0.752143	0.11984	N	0.510486	T	0.00039	0.0001	N	0.08118	0	0.53688	P	2.6999999999999247E-5	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.03706	-1.1011	9	0.07030	T	0.85	-10.2216	2.1006	0.03679	0.1027:0.3278:0.2668:0.3028	rs17232910	643;643	B4DRI7;O15360	.;FANCA_HUMAN	A	643	ENSP00000373952:P643A	ENSP00000373952:P643A	P	-	1	0	FANCA	88367267	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.040000	0.12104	-0.163000	0.10946	-0.131000	0.14894	CCC	G|0.936;C|0.064	0.064	strong		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89839766	G	C	89839766	3	2	23	1	0	0	0	0	1	0	0	0	5662	1261	44	4	2528	4	FANCA	16	89839766	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	24614	89839766	514987	3784	20240										
FANCA	2175	hgsc.bcm.edu	37	chr16	89857935	89857935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcctgggccatcaaacgcGccacccagtctagttaagaa	9	13	2	1	rs11646374	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89857935G>A	ENST00000389301.3	-	14	1265	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	FANCA_ENST00000568369.1_Missense_Mutation_p.A412V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	412			A -> V (in dbSNP:rs11646374). {ECO:0000269|PubMed:18987736}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATCAAACGCGCCACCCAGTC	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	353	0.0704872	0.0038	0.0187	5008	,	,		19935	0.254		0.0626	False		,,,				2504	0.0164				p.A412V		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.C1235T						PASS	.	G	VAL/ALA	76,4320	64.7+/-102.0	0,76,2122	65	51	56		1235	5.1	0.1	16	dbSNP_120	56	698,7902	172.5+/-223.2	26,646,3628	yes	missense	FANCA	NM_000135.2	64	26,722,5750	AA,AG,GG		8.1163,1.7288,5.9557	possibly-damaging	412/1456	89857935	774,12222	2198	4300	6498	SO:0001583	missense	2175	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AAACGCGCCACCC	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1235C>T	16.37:g.89857935G>A	ENSP00000373952:p.Ala412Val	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	85	21	0.247059	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	180	0.08241758241758242	3	0.006097560975609756	10	0.027624309392265192	117	0.20454545454545456	50	0.06596306068601583	G	14.47	2.546014	0.45383	0.017288	0.081163	ENSG00000187741	ENST00000389301	D	0.98585	-5.01	5.13	5.13	0.70059	.	0.801903	0.11032	N	0.607099	T	0.03220	0.0094	M	0.65975	2.015	0.09310	P	0.9999999999981521	P;P	0.52316	0.952;0.952	B;B	0.41174	0.349;0.349	T	0.11155	-1.0599	9	0.46703	T	0.11	-1.967	12.244	0.54560	0.0:0.1854:0.8146:0.0	rs11646374;rs17226204;rs52813493;rs58856001;rs11646374	412;412	B4DRI7;O15360	.;FANCA_HUMAN	V	412	ENSP00000373952:A412V	ENSP00000373952:A412V	A	-	2	0	FANCA	88385436	1.000000	0.71417	0.128000	0.21923	0.016000	0.09150	4.990000	0.63876	2.417000	0.82017	0.650000	0.86243	GCG	G|0.932;A|0.068	0.068	strong		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89857935	G	A	89857935	3	1	23	1	0	0	0	0	1	0	0	0	5662	1087	38	1	3252	1	FANCA	16	89857935	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18169	89857935	496818	3785	20241										
TCF25	22980	hgsc.bcm.edu	37	chr16	89965055	89965055	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtactgcaagctcatcctGaggtgagtgtctgctcaggg	14	9	3	2	rs11648433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89965055G>A	ENST00000263346.8	+	10	1169	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	TCF25_ENST00000263347.7_Silent_p.L136L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	371					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCTCATCCTGAGGTGAGTGT	0.622													G|||	393	0.0784744	0.0045	0.0231	5008	,	,		17571	0.2837		0.0666	False		,,,				2504	0.0184				p.L371L		Atlas-SNP	.											.	TCF25	61	.	0			c.G1113A						PASS	.	G		89,4307	72.5+/-110.5	0,89,2109	64	70	68		1113	-0.7	1	16	dbSNP_120	68	746,7854	179.6+/-228.7	34,678,3588	no	coding-synonymous	TCF25	NM_014972.2		34,767,5697	AA,AG,GG		8.6744,2.0246,6.4251		371/677	89965055	835,12161	2198	4300	6498	SO:0001819	synonymous_variant	22980	exon10			CATCCTGAGGTGA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1113G>A	16.37:g.89965055G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	59	15	0.254237	NM_014972	Q2MK75|Q9UPV3	Silent	SNP	ENST00000263346.8	37	CCDS10987.1																																																																																			G|0.932;A|0.068	0.068	strong		0.622	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		A	89965055	G	A	89965055	2	1	23	1	0	0	0	0	0	0	0	1	15690	1277	45	2		2	TCF25	16	89965055	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	107120	89965055	389698	3786	20242										
MC1R	4157	hgsc.bcm.edu	37	chr16	89986608	89986608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgctcaaggaggtgctgacAtgctcctggtgagcgcggtg	16	10	1	2	rs2228478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:89986608A>G	ENST00000555147.1	+	1	2322	c.942A>G	c.(940-942)acA>acG	p.T314T	TUBB3_ENST00000556922.1_Silent_p.T314T|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Silent_p.T314T	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	314					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGGTGCTGACATGCTCCTGGT	0.592									Melanoma, Familial Clustering of				G|||	1297	0.258986	0.4871	0.0836	5008	,	,		19553	0.2927		0.0924	False		,,,				2504	0.2117				p.T314T		Atlas-SNP	.											.	MC1R	20	.	0			c.A942G						PASS	.	G		1731,2511		347,1037,737	67	66	66		942	0.6	0.8	16	dbSNP_98	66	914,7554		55,804,3375	no	coding-synonymous	MC1R	NM_002386.3		402,1841,4112	GG,GA,AA		10.7936,40.8062,20.8104		314/318	89986608	2645,10065	2121	4234	6355	SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		GCTGACATGCTCC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.942A>G	16.37:g.89986608A>G		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	224	33	0.147321	NM_002386	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			A|0.821;G|0.179	0.179	strong		0.592	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		G	89986608	A	G	89986608	2	3	23	1	0	0	0	0	0	0	0	1	9363	204	8	2		2	MC1R	16	89986608	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21553	89986608	368145	3787	20243										
DBNDD1	79007	hgsc.bcm.edu	37	chr16	90075226	90075226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgttgaggttctcgtcgtcCgagtcagcaaagacctcggc	13	11	2	2	rs4362387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:90075226C>T	ENST00000002501.6	-	3	416	c.285G>A	c.(283-285)tcG>tcA	p.S95S	DBNDD1_ENST00000304733.3_Silent_p.S115S|DBNDD1_ENST00000568838.1_Silent_p.S215S|DBNDD1_ENST00000392973.3_Silent_p.S101S	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	95						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCTCGTCGTCCGAGTCAGCAA	0.642													C|||	285	0.0569089	0.0053	0.0706	5008	,	,		20383	0.1587		0.0457	False		,,,				2504	0.0235				p.S115S		Atlas-SNP	.											.	DBNDD1	9	.	0			c.G345A						PASS	.	C	,	47,4035		0,47,1994	40	44	43		285,345	-10.5	0	16	dbSNP_111	43	495,7867		14,467,3700	no	coding-synonymous,coding-synonymous	DBNDD1	NM_001042610.1,NM_024043.2	,	14,514,5694	TT,TC,CC		5.9196,1.1514,4.3555	,	95/159,115/179	90075226	542,11902	2041	4181	6222	SO:0001819	synonymous_variant	79007	exon3			GTCGTCCGAGTCA	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.285G>A	16.37:g.90075226C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	61	15	0.245902	NM_024043	B4DQS3|Q69YT2|Q9BW25	Silent	SNP	ENST00000002501.6	37	CCDS42223.1																																																																																			C|0.947;T|0.053	0.053	strong		0.642	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		T	90075226	C	T	90075226	2	4	23	1	0	0	0	0	0	0	0	1	4253	639	23	1		1	DBNDD1	16	90075226	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	88618	90075226	279527	3788	20244										
GAS8	2622	hgsc.bcm.edu	37	chr16	90103659	90103659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagcagatggaggacatgcGgaagaaggaggaccacctgg	18	7	0	2	rs17178299	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:90103659G>A	ENST00000268699.4	+	7	898	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R234Q	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	259			R -> Q (in dbSNP:rs17178299).		cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GAGGACATGCGGAAGAAGGAG	0.637													G|||	240	0.0479233	0.0038	0.013	5008	,	,		21050	0.1488		0.0507	False		,,,				2504	0.0256				p.R259Q		Atlas-SNP	.											.	GAS8	29	.	0			c.G776A						PASS	.	G	GLN/ARG	50,4346	50.2+/-85.5	0,50,2148	58	56	57		776	4.4	1	16	dbSNP_123	57	516,8084	144.7+/-200.5	15,486,3799	yes	missense	GAS8	NM_001481.2	43	15,536,5947	AA,AG,GG		6.0,1.1374,4.3552	possibly-damaging	259/479	90103659	566,12430	2198	4300	6498	SO:0001583	missense	2622	exon7			ACATGCGGAAGAA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.776G>A	16.37:g.90103659G>A	ENSP00000268699:p.Arg259Gln	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	234	30	0.128205	NM_001481	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	100	0.045787545787545784	3	0.006097560975609756	7	0.019337016574585635	47	0.08216783216783216	43	0.05672823218997362	G	19.36	3.812005	0.70797	0.011374	0.06	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.46451	0.87;0.87	5.49	4.44	0.53790	.	0.258952	0.37955	N	0.001866	T	0.01558	0.0050	L	0.45352	1.415	0.22918	P	0.99856096	P;P	0.46656	0.882;0.774	B;B	0.40228	0.323;0.126	T	0.15321	-1.0441	8	.	.	.	-37.1049	3.5798	0.07947	0.3568:0.0:0.6432:0.0	rs17178299;rs17178299	230;259	B7Z1X3;O95995	.;GAS8_HUMAN	Q	234;259;230	ENSP00000440977:R234Q;ENSP00000268699:R259Q	.	R	+	2	0	GAS8	88631160	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.732000	0.68563	2.578000	0.87016	0.563000	0.77884	CGG	G|0.958;A|0.042	0.042	strong		0.637	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			A	90103659	G	A	90103659	3	1	23	1	0	0	0	0	1	0	0	0	6251	1116	39	1	802	1	GAS8	16	90103659	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28433	90103659	251094	3789	20245										
GAS8	2622	hgsc.bcm.edu	37	chr16	90106746	90106746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctctatcggaagttcacCgcagccatccaggaggtgca	12	12	2	0	rs61734731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:90106746C>T	ENST00000268699.4	+	9	1172	c.1050C>T	c.(1048-1050)acC>acT	p.T350T	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T325T|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	350					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGAAGTTCACCGCAGCCATCC	0.627													c|||	136	0.0271565	0.0091	0.0115	5008	,	,		19539	0.0446		0.0487	False		,,,				2504	0.0225				p.T350T		Atlas-SNP	.											GAS8,NS,carcinoma,0,1	GAS8	29	1	0			c.C1050T						PASS	.	C		65,4323		0,65,2129	61	45	51		1050	-11.6	0	16	dbSNP_129	51	507,8091		15,477,3807	no	coding-synonymous	GAS8	NM_001481.2		15,542,5936	TT,TC,CC		5.8967,1.4813,4.4047		350/479	90106746	572,12414	2194	4299	6493	SO:0001819	synonymous_variant	2622	exon9			GTTCACCGCAGCC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1050C>T	16.37:g.90106746C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	46	5	0.108696	NM_001481	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																			C|0.963;T|0.037	0.037	strong		0.627	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90106746	C	T	90106746	2	4	23	1	0	0	0	0	0	0	0	1	6251	639	23	1		1	GAS8	16	90106746	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3087	90106746	248007	3790	20246										
PRDM7	11105	hgsc.bcm.edu	37	chr16	90124871	90124871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagtgattgcgttccacatGttgactgagaaatttttgac	11	6	0	4	rs7206111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:90124871G>T	ENST00000449207.2	-	10	1324	c.1305C>A	c.(1303-1305)aaC>aaA	p.N435K	PRDM7_ENST00000407825.1_Missense_Mutation_p.T135K|PRDM7_ENST00000325921.6_Missense_Mutation_p.T135K	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	435			N -> K (in dbSNP:rs7206111).		regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.T135K(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGTTCCACATGTTGACTGAGA	0.483													.|||	436	0.0870607	0.1225	0.0259	5008	,	,		19923	0.1776		0.0517	False		,,,				2504	0.0256				p.N435K		Atlas-SNP	.											PRDM7,NS,carcinoma,0,1	PRDM7	53	1	1	Substitution - Missense(1)	stomach(1)	c.C1305A						PASS	.	G	LYS/ASN,LYS/THR	491,3905	229.1+/-243.8	22,447,1729	151	143	146		1305,404	2.7	0.1	16	dbSNP_116	146	512,8088	145.4+/-201.1	13,486,3801	no	missense,missense	PRDM7	NM_001098173.1,NM_052996.2	94,78	35,933,5530	TT,TG,GG		5.9535,11.1692,7.7178	possibly-damaging,possibly-damaging	435/493,135/172	90124871	1003,11993	2198	4300	6498	SO:0001583	missense	11105	exon10			CCACATGTTGACT	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1305C>A	16.37:g.90124871G>T	ENSP00000396732:p.Asn435Lys	Somatic	361	0	0		WXS	Illumina HiSeq	Phase_I	329	51	0.155015	NM_001098173	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	180|180	0.08241758241758242|0.08241758241758242	57|57	0.11585365853658537|0.11585365853658537	11|11	0.03038674033149171|0.03038674033149171	68|68	0.11888111888111888|0.11888111888111888	44|44	0.05804749340369393|0.05804749340369393	G|G	12.21|12.21	1.869148|1.869148	0.32977|0.32977	0.111692|0.111692	0.059535|0.059535	ENSG00000126856|ENSG00000126856	ENST00000449207|ENST00000325921;ENST00000407825	T|T;T	0.12879|0.50277	2.64|0.75;0.75	2.69|2.69	2.69|2.69	0.31865|0.31865	.|.	.|.	.|.	.|.	.|.	T|T	0.01454|0.01454	0.0047|0.0047	.|.	.|.	.|.	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	B|D	0.23316|0.76494	0.083|0.999	B|D	0.19391|0.69142	0.025|0.962	T|T	0.32214|0.32214	-0.9915|-0.9915	6|6	.|.	.|.	.|.	0.1464|0.1464	7.4136|7.4136	0.27032|0.27032	0.0:0.0:0.7407:0.2593|0.0:0.0:0.7407:0.2593	rs7206111;rs52835907;rs7206111|rs7206111;rs52835907;rs7206111	435|135	Q9NQW5|Q9NQW5-2	PRDM7_HUMAN|.	K|K	435|135	ENSP00000396732:N435K|ENSP00000315512:T135K;ENSP00000385121:T135K	.|.	N|T	-|-	3|2	2|0	PRDM7|PRDM7	88652372|88652372	0.981000|0.981000	0.34729|0.34729	0.100000|0.100000	0.21137|0.21137	0.502000|0.502000	0.33828|0.33828	3.065000|3.065000	0.49994|0.49994	1.471000|1.471000	0.48121|0.48121	0.467000|0.467000	0.42956|0.42956	AAC|ACA	G|0.923;T|0.077	0.077	strong		0.483	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			T	90124871	G	T	90124871	3	4	23	1	0	0	0	0	1	0	0	0	12461	1377	48	4	177	4	PRDM7	16	90124871	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18125	90124871	229882	3791	20247										
PRDM7	11105	hgsc.bcm.edu	37	chr16	90130136	90130136	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggcgttcctgacaattctCtcaaactagattcattattg	6	9	3	2	rs2078478	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr16:90130136C>T	ENST00000449207.2	-	5	411	c.392G>A	c.(391-393)aGa>aAa	p.R131K	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000325921.6_5'Flank	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	131			R -> K (in dbSNP:rs2078478).		regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGACAATTCTCTCAAACTAGA	0.418													.|||	1440	0.28754	0.1195	0.2781	5008	,	,		20389	0.7798		0.1571	False		,,,				2504	0.1483				p.R131K		Atlas-SNP	.											.	PRDM7	53	.	0			c.G392A						PASS	.	T	LYS/ARG	460,3272		27,406,1433	93	87	89		392	1.6	0.1	16	dbSNP_96	89	1186,7026		80,1026,3000	yes	missense	PRDM7	NM_001098173.1	26	107,1432,4433	TT,TC,CC		14.4423,12.3258,13.781	benign	131/493	90130136	1646,10298	1866	4106	5972	SO:0001583	missense	11105	exon5			AATTCTCTCAAAC	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.392G>A	16.37:g.90130136C>T	ENSP00000396732:p.Arg131Lys	Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	270	26	0.0962963	NM_001098173	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	731	0.3347069597069597	76	0.15447154471544716	78	0.2154696132596685	445	0.777972027972028	132	0.1741424802110818	.	0.016	-1.514500	0.00975	0.123258	0.144423	ENSG00000126856	ENST00000449207	T	0.09350	2.99	1.6	1.6	0.23607	.	.	.	.	.	T	0.00012	0.0000	N	0.00186	-1.895	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	7	.	.	.	-7.7225	3.5217	0.07744	0.0:0.2185:0.0:0.7815	rs2078478;rs17784778;rs58861284;rs2078478	131	Q9NQW5	PRDM7_HUMAN	K	131	ENSP00000396732:R131K	.	R	-	2	0	PRDM7	88657637	0.021000	0.18746	0.057000	0.19452	0.003000	0.03518	0.341000	0.19909	0.113000	0.18004	-0.490000	0.04691	AGA	C|0.693;T|0.307	0.307	strong		0.418	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			T	90130136	C	T	90130136	3	4	23	1	0	0	0	0	1	0	0	0	12461	913	32	2	1110	2	PRDM7	16	90130136	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5265	90130136	224617	3792	20248										
VPS53	55275	hgsc.bcm.edu	37	chr17	534812	534812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtgccctgggaaggaaacGcttcttcaaaatctgccagg	12	10	3	0	rs138639431		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:534812G>A	ENST00000571805.1	-	8	801	c.665C>T	c.(664-666)gCg>gTg	p.A222V	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.A193V|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.A222V|VPS53_ENST00000446250.2_Missense_Mutation_p.A24V			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	222					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGAAGGAAACGCTTCTTCAAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21279	0.0		0.001	False		,,,				2504	0.0				p.A222V		Atlas-SNP	.											.	VPS53	109	.	0			c.C665T						PASS	.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	153	117	129		665,578	5.8	1	17	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS53	NM_001128159.2,NM_018289.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	222/833,193/671	534812	1,13005	2203	4300	6503	SO:0001583	missense	55275	exon8			GGAAACGCTTCTT		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.665C>T	17.37:g.534812G>A	ENSP00000459312:p.Ala222Val	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	109	47	0.431193	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.586261	0.86851	0.0	1.16E-4	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.82	5.82	0.92795	Vps53-like, N-terminal (1);	0.212444	0.49305	D	0.000142	T	0.42899	0.1223	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.51537	0.946;0.786;0.821;0.786	P;B;B;B	0.47402	0.546;0.286;0.409;0.286	T	0.33548	-0.9864	10	0.62326	D	0.03	-8.2413	19.0968	0.93255	0.0:0.0:1.0:0.0	.	222;24;222;193	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	V	222;24;193;222	ENSP00000401435:A222V;ENSP00000394386:A24V;ENSP00000291074:A193V;ENSP00000373692:A222V	ENSP00000291074:A193V	A	-	2	0	VPS53	481562	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	9.199000	0.95003	2.756000	0.94617	0.563000	0.77884	GCG	G|1.000;A|0.000	0.000	strong		0.502	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	534812	G	A	534812	3	1	23	1	0	0	0	0	1	0	0	0	17212	1087	38	1	1908	1	VPS53	17	534812	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10		534812	80660398	3793	20249										
GLOD4	51031	hgsc.bcm.edu	37	chr17	663472	663472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcgtcacttttatctgctgCcattgcctgtaaaatagaaa	6	10	2	1	rs77166377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:663472C>A	ENST00000301328.5	-	10	906	c.883G>T	c.(883-885)Gca>Tca	p.A295S	GLOD4_ENST00000536578.1_Missense_Mutation_p.A271S|GLOD4_ENST00000575800.1_5'Flank|GLOD4_ENST00000301329.6_Missense_Mutation_p.A280S			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	295				A -> S (in Ref. 1; AAG17987). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTATCTGCTGCCATTGCCTGT	0.408													C|||	40	0.00798722	0.0	0.0144	5008	,	,		16550	0.0		0.0278	False		,,,				2504	0.002				p.A280S		Atlas-SNP	.											.	GLOD4	12	.	0			c.G838T						PASS	.	C	SER/ALA	24,4382	31.7+/-61.6	0,24,2179	169	141	151		838	5.1	1	17	dbSNP_131	151	294,8306	108.4+/-169.1	5,284,4011	yes	missense	GLOD4	NM_016080.3	99	5,308,6190	AA,AC,CC		3.4186,0.5447,2.445	benign	280/299	663472	318,12688	2203	4300	6503	SO:0001583	missense	51031	exon9			CTGCTGCCATTGC	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.883G>T	17.37:g.663472C>A	ENSP00000301328:p.Ala295Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	86	36	0.418605	NM_016080	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37		35	0.016025641025641024	0	0.0	5	0.013812154696132596	0	0.0	30	0.0395778364116095	C	17.67	3.445852	0.63178	0.005447	0.034186	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.45668	0.9;0.9;0.89	6.02	5.05	0.67936	.	0.147602	0.64402	N	0.000011	T	0.15003	0.0362	M	0.69463	2.115	0.44702	D	0.997696	B;B;B	0.24426	0.026;0.103;0.038	B;B;B	0.24394	0.022;0.053;0.029	T	0.09207	-1.0685	10	0.38643	T	0.18	-8.9032	15.7871	0.78315	0.1371:0.8629:0.0:0.0	.	271;295;280	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	S	280;483;295;271	ENSP00000301329:A280S;ENSP00000301328:A295S;ENSP00000444315:A271S	ENSP00000301328:A295S	A	-	1	0	GLOD4	610222	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.689000	0.61723	1.545000	0.49373	0.655000	0.94253	GCA	C|0.975;A|0.025	0.025	strong		0.408	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		A	663472	C	A	663472	3	1	23	1	0	0	0	0	1	0	0	0	6450	739	26	4	62	4	GLOD4	17	663472	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	128660	663472	80531738	3794	20250										
ABR	29	hgsc.bcm.edu	37	chr17	970419	970419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctggcctcagactcctcGggggatggaaacaccaggtc	15	12	1	1	rs199545490		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:970419G>A	ENST00000302538.5	-	10	1226	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	ABR_ENST00000291107.2_Silent_p.P323P|ABR_ENST00000574437.1_Silent_p.P314P|ABR_ENST00000536794.2_Silent_p.P142P|ABR_ENST00000544583.2_Silent_p.P314P	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	360	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CAGACTCCTCGGGGGATGGAA	0.582																																					p.P360P	Esophageal Squamous(197;2016 2115 4129 29033 46447)	Atlas-SNP	.											ABR,colon,carcinoma,0,1	ABR	119	1	0			c.C1080T						scavenged	.						35	33	34					17																	970419		2203	4300	6503	SO:0001819	synonymous_variant	29	exon10			CTCCTCGGGGGAT	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1080C>T	17.37:g.970419G>A		Somatic	66	1	0.0151515		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																			G|0.999;A|0.001	0.001	weak		0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			A	970419	G	A	970419	2	1	23	1	0	0	0	0	0	0	0	1	99	1103	39	1		1	ABR	17	970419	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	306947	970419	80224791	3795	20251										
TUSC5	286753	hgsc.bcm.edu	37	chr17	1183612	1183612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccccagagattacctcaTcctggccgtcgtcgcctgct	9	17	1	1	rs72816260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1183612T>C	ENST00000333813.3	+	1	656	c.317T>C	c.(316-318)aTc>aCc	p.I106T		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	106					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATTACCTCATCCTGGCCGTC	0.627													T|||	23	0.00459265	0.0	0.0	5008	,	,		15822	0.0		0.0119	False		,,,				2504	0.0112				p.I106T		Atlas-SNP	.											.	TUSC5	25	.	0			c.T317C						PASS	.	T	THR/ILE	5,3919		0,5,1957	78	89	85		317	5.3	1	17	dbSNP_130	85	57,8195		0,57,4069	yes	missense	TUSC5	NM_172367.2	89	0,62,6026	CC,CT,TT		0.6907,0.1274,0.5092	possibly-damaging	106/178	1183612	62,12114	1962	4126	6088	SO:0001583	missense	286753	exon1			ACCTCATCCTGGC	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.317T>C	17.37:g.1183612T>C	ENSP00000329548:p.Ile106Thr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	127	70	0.551181	NM_172367	A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	CCDS42225.1	10	0.004578754578754579	0	0.0	0	0.0	0	0.0	10	0.013192612137203167	T	17.10	3.303222	0.60195	0.001274	0.006907	ENSG00000184811	ENST00000333813	D	0.86297	-2.1	5.28	5.28	0.74379	.	0.222837	0.37669	U	0.001998	D	0.88724	0.6514	M	0.75264	2.295	0.39796	D	0.972507	D	0.58268	0.982	P	0.57620	0.824	D	0.90331	0.4352	10	0.49607	T	0.09	-5.7808	14.0731	0.64872	0.0:0.0:0.0:1.0	.	106	Q8IXB3	TUSC5_HUMAN	T	106	ENSP00000329548:I106T	ENSP00000329548:I106T	I	+	2	0	TUSC5	1130362	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	3.761000	0.55242	2.022000	0.59522	0.438000	0.28831	ATC	T|0.994;C|0.006	0.006	strong		0.627	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		C	1183612	T	C	1183612	3	2	23	1	0	0	0	0	1	0	0	0	16776	1435	50	2	319	2	TUSC5	17	1183612	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	213193	1183612	80011598	3796	20252										
MYO1C	4641	hgsc.bcm.edu	37	chr17	1373518	1373518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgaggtgtccaggacattcTggggcagctgccgcctcagg	15	12	2	0	rs9905106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1373518T>C	ENST00000575158.1	-	24	2548	c.2372A>G	c.(2371-2373)cAg>cGg	p.Q791R	MYO1C_ENST00000545534.2_Missense_Mutation_p.Q802R|MYO1C_ENST00000359786.5_Missense_Mutation_p.Q826R|MYO1C_ENST00000438665.2_Missense_Mutation_p.Q807R|MYO1C_ENST00000361007.2_Missense_Mutation_p.Q791R			Q12965	MYO1E_HUMAN	myosin IC	0	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGACATTCTGGGGCAGCTG	0.637													C|||	3564	0.711661	0.9183	0.7017	5008	,	,		12609	0.4196		0.7008	False		,,,				2504	0.7515				p.Q826R		Atlas-SNP	.											MYO1C,NS,carcinoma,0,2	MYO1C	57	2	0			c.A2477G						PASS	.	C	ARG/GLN,ARG/GLN,ARG/GLN	3834,498		1699,436,31	14	15	15		2477,2420,2372	4.9	1	17	dbSNP_119	15	6265,2185		2341,1583,301	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	43,43,43	4040,2019,332	CC,CT,TT		25.858,11.4958,20.9905	benign,benign,benign	826/1064,807/1045,791/1029	1373518	10099,2683	2166	4225	6391	SO:0001583	missense	4641	exon24			ACATTCTGGGGCA	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2372A>G	17.37:g.1373518T>C	ENSP00000459174:p.Gln791Arg	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_001080779	Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	CCDS11003.1	1440	0.6593406593406593	441	0.8963414634146342	256	0.7071823204419889	226	0.3951048951048951	517	0.6820580474934037	C	5.871	0.344923	0.11126	0.885042	0.74142	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	D;D;D;D	0.87029	-2.19;-2.2;-2.2;-2.2	4.95	4.95	0.65309	.	0.106416	0.64402	N	0.000009	T	0.00012	0.0000	N	0.03608	-0.345	0.53005	P	3.500000000000725E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41124	-0.9526	9	0.15952	T	0.53	.	6.3336	0.21285	0.0:0.7213:0.0:0.2787	rs9905106;rs57897716	826;807	O00159;O00159-3	MYO1C_HUMAN;.	R	826;807;807;791;802	ENSP00000352834:Q826R;ENSP00000412197:Q807R;ENSP00000354283:Q791R;ENSP00000437685:Q802R	ENSP00000352834:Q826R	Q	-	2	0	MYO1C	1320268	0.998000	0.40836	0.999000	0.59377	0.215000	0.24574	1.400000	0.34577	1.334000	0.45468	-0.215000	0.12644	CAG	T|0.270;C|0.730	0.730	strong		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			C	1373518	T	C	1373518	3	2	23	1	0	0	0	0	1	0	0	0	10070	1580	55	3	750	3	MYO1C	17	1373518	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	189906	1373518	79821692	3797	20253										
SLC43A2	124935	hgsc.bcm.edu	37	chr17	1494567	1494567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctcaggcgggtacctgcGgcatccggctggcacttcac	14	14	2	0	rs12953268	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1494567G>A	ENST00000301335.5	-	8	1015	c.927C>T	c.(925-927)gcC>gcT	p.A309A	SLC43A2_ENST00000382147.4_Silent_p.A309A|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Silent_p.A172A|SLC43A2_ENST00000571650.1_Silent_p.A309A	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGGTACCTGCGGCATCCGGCT	0.682													G|||	1399	0.279353	0.0832	0.3127	5008	,	,		11580	0.1508		0.5388	False		,,,				2504	0.3865				p.A309A		Atlas-SNP	.											SLC43A2,NS,carcinoma,0,1	SLC43A2	37	1	0			c.C927T						PASS	.	G		726,3680	287.2+/-279.2	55,616,1532	42	43	43		927	-5.5	0.1	17	dbSNP_121	43	4715,3885	595.2+/-393.4	1297,2121,882	no	coding-synonymous	SLC43A2	NM_152346.1		1352,2737,2414	AA,AG,GG		45.1744,16.4775,41.8345		309/570	1494567	5441,7565	2203	4300	6503	SO:0001819	synonymous_variant	124935	exon8			ACCTGCGGCATCC	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.927C>T	17.37:g.1494567G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	53	34	0.641509	NM_152346	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	CCDS11006.1																																																																																			A|0.422;C|0.000;G|0.578	0.422	strong		0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		A	1494567	G	A	1494567	2	1	23	1	0	0	0	0	0	0	0	1	14633	1103	39	1		1	SLC43A2	17	1494567	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	121049	1494567	79700643	3798	20254										
SCARF1	8578	hgsc.bcm.edu	37	chr17	1538669	1538669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcttcccggccctcaggacCcgactgcgccccccgggaga	13	19	1	1	rs36108564	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1538669C>T	ENST00000263071.4	-	11	1925	c.1876G>A	c.(1876-1878)Ggt>Agt	p.G626S	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.G540S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	626	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTCAGGACCCGACTGCGCC	0.677													C|||	275	0.0549121	0.0076	0.1167	5008	,	,		14353	0.0079		0.1392	False		,,,				2504	0.0368				p.G626S		Atlas-SNP	.											.	SCARF1	46	.	0			c.G1876A						PASS	.	C	SER/GLY,,SER/GLY	131,4275	90.2+/-128.9	0,131,2072	26	30	29		1876,,1618	1.5	0.3	17	dbSNP_126	29	1204,7396	232.8+/-266.3	80,1044,3176	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	56,,56	80,1175,5248	TT,TC,CC		14.0,2.9732,10.2645	benign,,benign	626/831,,540/745	1538669	1335,11671	2203	4300	6503	SO:0001583	missense	8578	exon11			CAGGACCCGACTG	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1876G>A	17.37:g.1538669C>T	ENSP00000263071:p.Gly626Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	61	59	0.967213	NM_003693	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	165	0.07554945054945054	3	0.006097560975609756	51	0.1408839779005525	4	0.006993006993006993	107	0.14116094986807387	C	8.573	0.880576	0.17467	0.029732	0.14	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.36520	1.25;1.25	5.21	1.48	0.22813	.	0.771440	0.11051	N	0.605086	T	0.00241	0.0007	L	0.47716	1.5	0.80722	P	0.0	B;B	0.19583	0.037;0.027	B;B	0.15484	0.013;0.012	T	0.14035	-1.0487	9	0.22706	T	0.39	-4.2449	10.3537	0.43952	0.0:0.4454:0.403:0.1516	rs36108564	540;626	Q14162-2;Q14162	.;SREC_HUMAN	S	626;540	ENSP00000263071:G626S;ENSP00000323964:G540S	ENSP00000263071:G626S	G	-	1	0	SCARF1	1485419	0.000000	0.05858	0.327000	0.25402	0.015000	0.08874	0.444000	0.21661	0.477000	0.27464	0.555000	0.69702	GGT	C|0.913;T|0.087	0.087	strong		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1538669	C	T	1538669	3	4	23	1	0	0	0	0	1	0	0	0	13883	623	22	2	620	2	SCARF1	17	1538669	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	44102	1538669	79656541	3799	20255										
SERPINF1	5176	hgsc.bcm.edu	37	chr17	1674429	1674429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctccttgacacggtcacTgccccccagaagaacctcaa	8	16	2	3	rs8074840	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1674429T>C	ENST00000254722.4	+	4	553	c.390T>C	c.(388-390)acT>acC	p.T130T	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	130					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACACGGTCACTGCCCCCCAGA	0.547													T|||	1504	0.300319	0.1203	0.3631	5008	,	,		15428	0.4067		0.3101	False		,,,				2504	0.3793				p.T130T		Atlas-SNP	.											SERPINF1,NS,carcinoma,0,1	SERPINF1	31	1	0			c.T390C						scavenged	.	T		695,3711	291.8+/-281.7	57,581,1565	76	67	70		390	-8.1	0.5	17	dbSNP_116	70	2530,6070	413.2+/-351.0	357,1816,2127	no	coding-synonymous	SERPINF1	NM_002615.5		414,2397,3692	CC,CT,TT		29.4186,15.7739,24.7962		130/419	1674429	3225,9781	2203	4300	6503	SO:0001819	synonymous_variant	5176	exon4			GGTCACTGCCCCC	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.390T>C	17.37:g.1674429T>C		Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	108	44	0.407407	NM_002615	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	CCDS11012.1																																																																																			T|0.735;C|0.265	0.265	strong		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		C	1674429	T	C	1674429	2	2	23	1	0	0	0	0	0	0	0	1	14114	1567	55	3		3	SERPINF1	17	1674429	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	135760	1674429	79520781	3800	20256										
SMYD4	114826	hgsc.bcm.edu	37	chr17	1731268	1731268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagcagatatgatttccaTtcatccacaggcagatccat	7	10	1	4	rs8067660	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:1731268T>C	ENST00000305513.7	-	2	188	c.21A>G	c.(19-21)gaA>gaG	p.E7E	AC130689.1_ENST00000582190.1_RNA|RPA1_ENST00000254719.5_5'Flank	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	7							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ATGATTTCCATTCATCCACAG	0.398													C|||	2951	0.589257	0.6815	0.4971	5008	,	,		20661	0.4583		0.7634	False		,,,				2504	0.4857				p.E7E		Atlas-SNP	.											.	SMYD4	50	.	0			c.A21G						PASS	.	C		3151,1255	429.9+/-342.4	1129,893,181	105	95	98		21	-2.1	1	17	dbSNP_116	98	6780,1820	326.4+/-317.4	2669,1442,189	no	coding-synonymous	SMYD4	NM_052928.2		3798,2335,370	CC,CT,TT		21.1628,28.4839,23.6429		7/805	1731268	9931,3075	2203	4300	6503	SO:0001819	synonymous_variant	114826	exon2			TTTCCATTCATCC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.21A>G	17.37:g.1731268T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	94	1	NM_052928	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	CCDS11013.1																																																																																			T|0.294;C|0.706	0.706	strong		0.398	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		C	1731268	T	C	1731268	2	2	23	1	0	0	0	0	0	0	0	1	14824	1490	52	2		2	SMYD4	17	1731268	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	56839	1731268	79463942	3801	20257										
TSR1	55720	hgsc.bcm.edu	37	chr17	2238152	2238152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctggtatctatttgttTcttcagtgggaggccagaaa	10	8	3	1	rs79597880	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:2238152T>C	ENST00000301364.5	-	5	1674	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000574563.1_5'Flank|SGSM2_ENST00000426855.2_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.K183E	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	199	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTATTTGTTTCTTCAGTGGG	0.463													T|||	167	0.0333466	0.0061	0.0072	5008	,	,		20986	0.0764		0.008	False		,,,				2504	0.0706				p.K199E		Atlas-SNP	.											.	TSR1	57	.	0			c.A595G						PASS	.	T	GLU/LYS	28,4378	32.6+/-62.9	0,28,2175	106	105	105		595	5.4	0.5	17	dbSNP_131	105	73,8527	38.3+/-94.2	1,71,4228	yes	missense	TSR1	NM_018128.4	56	1,99,6403	CC,CT,TT		0.8488,0.6355,0.7766	possibly-damaging	199/805	2238152	101,12905	2203	4300	6503	SO:0001583	missense	55720	exon5			TTTGTTTCTTCAG	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.595A>G	17.37:g.2238152T>C	ENSP00000301364:p.Lys199Glu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	38	0.0173992673992674	5	0.01016260162601626	3	0.008287292817679558	23	0.04020979020979021	7	0.009234828496042216	T	28.5	4.929292	0.92389	0.006355	0.008488	ENSG00000167721	ENST00000301364	T	0.15718	2.4	5.4	5.4	0.78164	.	0.130635	0.64402	D	0.000002	T	0.10637	0.0260	M	0.86740	2.835	0.80722	D	1	P	0.49358	0.923	P	0.49597	0.616	T	0.04509	-1.0946	10	0.39692	T	0.17	-3.0079	14.6065	0.68483	0.0:0.0:0.0:1.0	.	199	Q2NL82	TSR1_HUMAN	E	199	ENSP00000301364:K199E	ENSP00000301364:K199E	K	-	1	0	TSR1	2184902	1.000000	0.71417	0.495000	0.27527	0.956000	0.61745	7.542000	0.82095	2.046000	0.60703	0.533000	0.62120	AAA	T|0.987;C|0.013	0.013	strong		0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		C	2238152	T	C	2238152	3	2	23	1	0	0	0	0	1	0	0	0	16661	1792	62	2	1863	2	TSR1	17	2238152	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	506884	2238152	78957058	3802	20258										
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2883588	2883588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtcttgtgcaggtccaaaCtgaagacggtacatgagcgg	13	10	1	3	rs17762452	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:2883588C>A	ENST00000254695.8	+	9	694	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.L187M|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.L202M|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.L183M	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	202			L -> M (in dbSNP:rs17762452).		negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGTCCAAACTGAAGACGGT	0.547													C|||	1488	0.297125	0.1104	0.3112	5008	,	,		1167	0.3313		0.2972	False		,,,				2504	0.5041				p.L202M		Atlas-SNP	.											.	RAP1GAP2	90	.	0			c.C604A						PASS	.	C	MET/LEU,MET/LEU	530,3480		43,444,1518	87	84	85		559,604	4	1	17	dbSNP_123	85	2656,5676		444,1768,1954	yes	missense,missense	RAP1GAP2	NM_001100398.1,NM_015085.4	15,15	487,2212,3472	AA,AC,CC		31.8771,13.217,25.8143	benign,benign	187/716,202/731	2883588	3186,9156	2005	4166	6171	SO:0001583	missense	23108	exon9			TCCAAACTGAAGA	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.604C>A	17.37:g.2883588C>A	ENSP00000254695:p.Leu202Met	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	188	97	0.515957	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	594	0.27197802197802196	58	0.11788617886178862	105	0.2900552486187845	204	0.35664335664335667	227	0.2994722955145119	C	11.10	1.540719	0.27563	0.13217	0.318771	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.99	4.02	0.46733	.	0.484343	0.21364	N	0.075741	T	0.00012	0.0000	N	0.08118	0	0.46149	P	0.0011100000000000554	B;B	0.27264	0.173;0.108	B;B	0.34038	0.174;0.084	T	0.03433	-1.1037	9	0.31617	T	0.26	-8.9204	9.9318	0.41528	0.0:0.3971:0.6029:0.0	rs17762452;rs52833255;rs17762452	187;202	Q684P5-2;Q684P5	.;RPGP2_HUMAN	M	202;187;183;202	ENSP00000254695:L202M;ENSP00000389824:L187M;ENSP00000439688:L183M;ENSP00000444890:L202M	ENSP00000254695:L202M	L	+	1	2	RAP1GAP2	2830338	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	0.540000	0.23191	1.113000	0.41760	0.555000	0.69702	CTG	C|0.737;A|0.263	0.263	strong		0.547	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2883588	C	A	2883588	3	1	23	1	0	0	0	0	1	0	0	0	13038	564	20	4	638	4	RAP1GAP2	17	2883588	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	645436	2883588	78311622	3803	20259										
OR1A2	26189	hgsc.bcm.edu	37	chr17	3100827	3100827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagccatgaagaaagaaaaTcaatcctttaacctggattt	7	7	1	3	rs2241093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3100827T>C	ENST00000381951.1	+	1	15	c.15T>C	c.(13-15)aaT>aaC	p.N5N		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	5					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5N(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AGAAAGAAAATCAATCCTTTA	0.383													T|||	1460	0.291534	0.0613	0.2853	5008	,	,		20876	0.5605		0.3509	False		,,,				2504	0.2689				p.N5N		Atlas-SNP	.											OR1A2,NS,carcinoma,0,1	OR1A2	52	1	1	Substitution - coding silent(1)	stomach(1)	c.T15C						PASS	.	T		513,3893	235.8+/-248.2	33,447,1723	89	86	87		15	-6.1	0	17	dbSNP_98	87	3184,5416	483.2+/-371.1	597,1990,1713	no	coding-synonymous	OR1A2	NM_012352.1		630,2437,3436	CC,CT,TT		37.0233,11.6432,28.4253		5/310	3100827	3697,9309	2203	4300	6503	SO:0001819	synonymous_variant	26189	exon1			AGAAAATCAATCC	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.15T>C	17.37:g.3100827T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	87	85	0.977012	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	CCDS11021.1																																																																																			T|0.693;C|0.307	0.307	strong		0.383	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		C	3100827	T	C	3100827	2	2	23	1	0	0	0	0	0	0	0	1	10950	1432	50	2		2	OR1A2	17	3100827	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	217239	3100827	78094383	3804	20260										
OR1A2	26189	hgsc.bcm.edu	37	chr17	3101578	3101578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatattatggtacaacgatgGgcatgtatttccgccctctg	9	9	1	0	rs2241091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3101578G>T	ENST00000381951.1	+	1	766	c.766G>T	c.(766-768)Ggc>Tgc	p.G256C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	256			G -> C (in dbSNP:rs2241091). {ECO:0000269|PubMed:15489334}.		positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TACAACGATGGGCATGTATTT	0.448													G|||	1410	0.28155	0.0318	0.2853	5008	,	,		18285	0.5595		0.3509	False		,,,				2504	0.2587				p.G256C		Atlas-SNP	.											.	OR1A2	52	.	0			c.G766T						PASS	.	G	CYS/GLY	417,3989	203.8+/-226.2	26,365,1812	114	109	110		766	3	1	17	dbSNP_98	110	3178,5422	480.8+/-370.5	592,1994,1714	yes	missense	OR1A2	NM_012352.1	159	618,2359,3526	TT,TG,GG		36.9535,9.4644,27.6411	probably-damaging	256/310	3101578	3595,9411	2203	4300	6503	SO:0001583	missense	26189	exon1			ACGATGGGCATGT	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.766G>T	17.37:g.3101578G>T	ENSP00000371377:p.Gly256Cys	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	158	157	0.993671	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	711	0.32554945054945056	15	0.03048780487804878	119	0.3287292817679558	313	0.5472027972027972	264	0.3482849604221636	G	13.62	2.292025	0.40594	0.094644	0.369535	ENSG00000172150	ENST00000381951	T	0.00115	8.71	4.0	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.00012	0.0000	L	0.50847	1.595	0.40982	P	0.015216000000000007	D	0.89917	1.0	D	0.91635	0.999	T	0.01966	-1.1238	9	0.87932	D	0	.	3.7968	0.08743	0.2056:0.0:0.6014:0.1931	rs2241091;rs17222222;rs52817904;rs59482978;rs2241091	256	Q9Y585	OR1A2_HUMAN	C	256	ENSP00000371377:G256C	ENSP00000371377:G256C	G	+	1	0	OR1A2	3048328	0.000000	0.05858	0.999000	0.59377	0.648000	0.38561	0.125000	0.15749	1.030000	0.39839	0.543000	0.68304	GGC	G|0.704;T|0.295	0.295	strong		0.448	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101578	G	T	3101578	3	4	23	1	0	0	0	0	1	0	0	0	10950	1232	43	4	768	4	OR1A2	17	3101578	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	751	3101578	78093632	3805	20261										
OR1A2	26189	hgsc.bcm.edu	37	chr17	3101691	3101691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctatagtctgagaaattgGgatatgaaggcagccctaca	10	7	2	2	rs12150427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3101691G>T	ENST00000381951.1	+	1	879	c.879G>T	c.(877-879)tgG>tgT	p.W293C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	293			W -> C (in dbSNP:rs12150427). {ECO:0000269|PubMed:15489334}.		positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W293C(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGAGAAATTGGGATATGAAGG	0.463													G|||	1447	0.288938	0.0598	0.2853	5008	,	,		18238	0.5595		0.3509	False		,,,				2504	0.2587				p.W293C		Atlas-SNP	.											OR1A2,NS,carcinoma,0,1	OR1A2	52	1	1	Substitution - Missense(1)	stomach(1)	c.G879T						PASS	.	G	CYS/TRP	506,3900	232.3+/-245.9	33,440,1730	102	102	102		879	-3	0	17	dbSNP_120	102	3181,5419	476.1+/-369.3	595,1991,1714	yes	missense	OR1A2	NM_012352.1	215	628,2431,3444	TT,TG,GG		36.9884,11.4843,28.3485	benign	293/310	3101691	3687,9319	2203	4300	6503	SO:0001583	missense	26189	exon1			AAATTGGGATATG	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.879G>T	17.37:g.3101691G>T	ENSP00000371377:p.Trp293Cys	Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	107	107	1	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	731	0.3347069597069597	35	0.07113821138211382	119	0.3287292817679558	313	0.5472027972027972	264	0.3482849604221636	G	0.906	-0.720596	0.03182	0.114843	0.369884	ENSG00000172150	ENST00000381951	T	0.37058	1.22	4.0	-3.05	0.05396	.	0.337248	0.21566	N	0.072494	T	0.00012	0.0000	N	0.14661	0.345	0.41321	P	0.012827000000000033	B	0.13145	0.007	B	0.06405	0.002	T	0.45775	-0.9238	9	0.87932	D	0	.	5.0262	0.14385	0.5003:0.0:0.3583:0.1413	rs12150427;rs17822470;rs52823271;rs60260068;rs12150427	293	Q9Y585	OR1A2_HUMAN	C	293	ENSP00000371377:W293C	ENSP00000371377:W293C	W	+	3	0	OR1A2	3048441	0.000000	0.05858	0.020000	0.16555	0.009000	0.06853	-0.330000	0.07925	-0.665000	0.05317	0.543000	0.68304	TGG	G|0.697;N|0.000	.	strong		0.463	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101691	G	T	3101691	3	4	23	1	0	0	0	0	1	0	0	0	10950	1241	43	4	881	4	OR1A2	17	3101691	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113	3101691	78093519	3806	20262										
OR3A2	4995	hgsc.bcm.edu	37	chr17	3181384	3181384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagtgttgaaaactccaacCcctttatccttgtctgaagc	6	12	1	2	rs769434	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3181384C>T	ENST00000408891.2	-	1	884	c.846G>A	c.(844-846)ggG>ggA	p.G282G	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	282					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						AAACTCCAACCCCTTTATCCT	0.468													C|||	891	0.177915	0.0144	0.3112	5008	,	,		21872	0.25		0.1561	False		,,,				2504	0.2526				p.G282G	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	Atlas-SNP	.											.	OR3A2	36	.	0			c.G846A						PASS	.	C		167,4131		2,163,1984	73	76	75		846	-2.8	1	17	dbSNP_86	75	1217,7339		99,1019,3160	no	coding-synonymous	OR3A2	NM_002551.3		101,1182,5144	TT,TC,CC		14.2239,3.8855,10.7671		282/322	3181384	1384,11470	2149	4278	6427	SO:0001819	synonymous_variant	4995	exon1			TCCAACCCCTTTA	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.846G>A	17.37:g.3181384C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	142	70	0.492958	NM_002551	Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	CCDS42233.1																																																																																			C|0.838;T|0.162	0.162	strong		0.468	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			T	3181384	C	T	3181384	2	4	23	1	0	0	0	0	0	0	0	1	11038	610	22	2		2	OR3A2	17	3181384	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	79693	3181384	78013826	3807	20263										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3343519	3343519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgcctggaaagttttttgTtcagaaacagacgccggtct	10	8	2	2	rs17822627	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3343519T>C	ENST00000573128.1	-	9	1497	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	SPATA22_ENST00000575375.1_Silent_p.E338E|SPATA22_ENST00000355380.4_Silent_p.E295E|SPATA22_ENST00000541913.1_Silent_p.E322E|SPATA22_ENST00000572969.1_Silent_p.E338E|SPATA22_ENST00000397168.3_Silent_p.E338E			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	338					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AAGTTTTTTGTTCAGAAACAG	0.368													T|||	1319	0.263379	0.2095	0.3501	5008	,	,		15510	0.4147		0.1809	False		,,,				2504	0.2035				p.E338E		Atlas-SNP	.											.	SPATA22	49	.	0			c.A1014G						PASS	.	T	,,,,,	1048,3358	375.9+/-321.8	128,792,1283	66	73	70		1014,885,1014,1014,,1014	3.5	1	17	dbSNP_123	70	1585,7015	294.4+/-301.9	145,1295,2860	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	,,,,,	273,2087,4143	CC,CT,TT		18.4302,23.7857,20.2445	,,,,,	338/364,295/321,338/364,338/364,,338/364	3343519	2633,10373	2203	4300	6503	SO:0001819	synonymous_variant	84690	exon9			TTTTTGTTCAGAA	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1014A>G	17.37:g.3343519T>C		Somatic	418	1	0.00239234		WXS	Illumina HiSeq	Phase_I	345	150	0.434783	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Silent	SNP	ENST00000573128.1	37	CCDS11027.1																																																																																			T|0.774;C|0.226	0.226	strong		0.368	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		C	3343519	T	C	3343519	2	2	23	1	0	0	0	0	0	0	0	1	15007	1722	60	2		2	SPATA22	17	3343519	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	162135	3343519	77851691	3808	20264										
SPATA22	84690	hgsc.bcm.edu	37	chr17	3352331	3352331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgttgagctcccgaactcaCtggacaagaattttttccat	7	10	1	2	rs1488690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3352331C>T	ENST00000573128.1	-	6	925	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	SPATA22_ENST00000575375.1_Missense_Mutation_p.V148M|SPATA22_ENST00000355380.4_Missense_Mutation_p.V105M|SPATA22_ENST00000268981.5_Missense_Mutation_p.V148M|SPATA22_ENST00000541913.1_Missense_Mutation_p.V132M|SPATA22_ENST00000572969.1_Missense_Mutation_p.V148M|SPATA22_ENST00000397168.3_Missense_Mutation_p.V148M			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	148			V -> M (in dbSNP:rs1488690). {ECO:0000269|PubMed:15489334}.		fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CCCGAACTCACTGGACAAGAA	0.353													c|||	1337	0.266973	0.2209	0.3501	5008	,	,		15865	0.4187		0.1809	False		,,,				2504	0.2025				p.V148M		Atlas-SNP	.											.	SPATA22	49	.	0			c.G442A						PASS	.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1087,3319	392.8+/-328.6	136,815,1252	216	208	211		442,313,442,442,442,442	-9.6	0	17	dbSNP_88	211	1585,7015	296.6+/-303.0	144,1297,2859	yes	missense,missense,missense,missense,missense,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	21,21,21,21,21,21	280,2112,4111	TT,TC,CC		18.4302,24.6709,20.5444	benign,benign,benign,benign,benign,benign	148/364,105/321,148/364,148/364,148/270,148/364	3352331	2672,10334	2203	4300	6503	SO:0001583	missense	84690	exon6			AACTCACTGGACA	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.442G>A	17.37:g.3352331C>T	ENSP00000459580:p.Val148Met	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	224	103	0.459821	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	593	0.2715201465201465	108	0.21951219512195122	127	0.35082872928176795	219	0.38286713286713286	139	0.18337730870712401	c	4.615	0.114227	0.08831	0.246709	0.184302	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.18960	2.19;2.2;2.18;2.19	5.07	-9.61	0.00550	.	1.064140	0.07349	N	0.882007	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B	0.12013	0.002;0.001;0.005;0.001	B;B;B;B	0.10450	0.005;0.003;0.005;0.002	T	0.36768	-0.9734	9	0.26408	T	0.33	-26.657	15.7227	0.77724	0.0:0.2877:0.0:0.7123	rs1488690;rs17822669;rs17852662;rs52823975;rs57028597;rs1488690	132;148;105;148	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	M	105;148;148;132	ENSP00000347541:V105M;ENSP00000380354:V148M;ENSP00000268981:V148M;ENSP00000441920:V132M	ENSP00000268981:V148M	V	-	1	0	SPATA22	3299081	0.002000	0.14202	0.019000	0.16419	0.059000	0.15707	-1.651000	0.01989	-1.929000	0.01057	-0.417000	0.06048	GTG	C|0.767;T|0.233	0.233	strong		0.353	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		T	3352331	C	T	3352331	3	4	23	1	0	0	0	0	1	0	0	0	15007	565	20	2	665	2	SPATA22	17	3352331	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8812	3352331	77842879	3809	20265										
ASPA	443	hgsc.bcm.edu	37	chr17	3397702	3397702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attatagagaaagttgattaCccccgggatgaaaatggaga	11	5	0	4	rs12948217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3397702C>T	ENST00000263080.2	+	5	851	c.693C>T	c.(691-693)taC>taT	p.Y231Y	ASPA_ENST00000456349.2_Silent_p.Y231Y|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	231			Y -> C (in CAND). {ECO:0000269|PubMed:10564886}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AAGTTGATTACCCCCGGGATG	0.343													t|||	1020	0.203674	0.2345	0.1844	5008	,	,		20080	0.0496		0.3101	False		,,,				2504	0.2249				p.Y231Y		Atlas-SNP	.											.	ASPA	37	.	0			c.C693T	GRCh37	CM940123	ASPA	M	rs12948217	PASS	.	T	,	1075,3331	722.2+/-409.3	127,821,1255	179	200	192	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	693,693	3.5	1	17	dbSNP_121	192	2687,5913	683.3+/-403.9	446,1795,2059	no	coding-synonymous,coding-synonymous	ASPA	NM_000049.2,NM_001128085.1	,	573,2616,3314	TT,TC,CC		31.2442,24.3985,28.9251	,	231/314,231/314	3397702	3762,9244	2203	4300	6503	SO:0001819	synonymous_variant	443	exon5			TGATTACCCCCGG	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.693C>T	17.37:g.3397702C>T		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	125	52	0.416	NM_000049		Silent	SNP	ENST00000263080.2	37	CCDS11028.1																																																																																			C|0.732;T|0.268	0.268	strong		0.343	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		T	3397702	C	T	3397702	2	4	23	1	0	0	0	0	0	0	0	1	1050	518	18	2		2	ASPA	17	3397702	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45371	3397702	77797508	3810	20266										
CTNS	1497	hgsc.bcm.edu	37	chr17	3563221	3563221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtgctcctggacttcaccGggggcagcttcagcctcctg	12	15	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3563221G>A	ENST00000046640.3	+	11	1515	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	CTNS_ENST00000381870.3_Missense_Mutation_p.G308R|CTNS_ENST00000441220.2_Missense_Mutation_p.G200R|CTNS_ENST00000414524.2_Missense_Mutation_p.G161R|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	308	PQ-loop 2.		G -> R (in CTNS). {ECO:0000269|PubMed:10556299, ECO:0000269|PubMed:12825071, ECO:0000269|PubMed:9792862}.|G -> V (in CTNS). {ECO:0000269|PubMed:12204010}.		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GGACTTCACCGGGGGCAGCTT	0.617																																					p.G308R		Atlas-SNP	.											.	CTNS	42	.	0			c.G922A	GRCh37	CM980460	CTNS	M		PASS	.						59	57	58					17																	3563221		2203	4300	6503	SO:0001583	missense	1497	exon11			TTCACCGGGGGCA	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.922G>A	17.37:g.3563221G>A	ENSP00000046640:p.Gly308Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	174	46	0.264368	NM_001031681	D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	g	35	5.491019	0.96339	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.99507	-6.04;-6.04;-6.04;-6.04	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97688	1.0177	10	0.87932	D	0	-16.3759	18.5632	0.91108	0.0:0.0:1.0:0.0	.	200;308;308	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	R	308;308;200;161	ENSP00000046640:G308R;ENSP00000371294:G308R;ENSP00000411465:G200R;ENSP00000395471:G161R	ENSP00000046640:G308R	G	+	1	0	CTNS	3509970	1.000000	0.71417	0.967000	0.41034	0.984000	0.73092	9.168000	0.94781	2.712000	0.92718	0.561000	0.74099	GGG	.	.	none		0.617	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		A	3563221	G	A	3563221	3	1	23	1	0	0	0	0	1	0	0	0	4021	1116	39	1	956	1	CTNS	17	3563221	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	165519	3563221	77631989	3811	20267										
ATP2A3	489	hgsc.bcm.edu	37	chr17	3828702	3828702	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtacacaccggagactccacTctgttcccagcgctcacttc	7	17	2	1	rs887387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:3828702T>C	ENST00000352011.3	-	22	3156	c.3102A>G	c.(3100-3102)agA>agG	p.R1034R	ATP2A3_ENST00000397039.1_Silent_p.R208R|ATP2A3_ENST00000397041.3_3'UTR|ATP2A3_ENST00000397035.3_3'UTR|ATP2A3_ENST00000397043.3_3'UTR|ATP2A3_ENST00000359983.3_3'UTR|ATP2A3_ENST00000309890.7_3'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1034					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GAGACTCCACTCTGTTCCCAG	0.577													T|||	1434	0.286342	0.1823	0.4424	5008	,	,		15994	0.2857		0.335	False		,,,				2504	0.2669				p.R1034R	GBM(32;29 774 15719 37967)	Atlas-SNP	.											.	ATP2A3	148	.	0			c.A3102G						PASS	.	T	,,,,,,	978,3428	366.1+/-317.7	111,756,1336	131	122	125		,,,3102,,,	3.4	0.7	17	dbSNP_86	125	3267,5333	487.8+/-372.2	601,2065,1634	no	utr-3,utr-3,utr-3,coding-synonymous,utr-3,utr-3,utr-3	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	712,2821,2970	CC,CT,TT		37.9884,22.197,32.6388	,,,,,,	,,,1034/1044,,,	3828702	4245,8761	2203	4300	6503	SO:0001819	synonymous_variant	489	exon22			CTCCACTCTGTTC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3102A>G	17.37:g.3828702T>C		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																			T|0.680;C|0.320	0.320	strong		0.577	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		C	3828702	T	C	3828702	2	2	23	1	0	0	0	0	0	0	0	1	1138	1548	54	3		3	ATP2A3	17	3828702	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	265481	3828702	77366508	3812	20268										
SPNS3	201305	hgsc.bcm.edu	37	chr17	4391152	4391152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgacctggagagacaaggccTactttcgggcgctggcgcct	14	13	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4391152T>C	ENST00000355530.2	+	12	1782	c.1502T>C	c.(1501-1503)cTa>cCa	p.L501P	SPNS3_ENST00000333476.2_Missense_Mutation_p.L374P|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	501					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGACAAGGCCTACTTTCGGGC	0.617																																					p.L501P		Atlas-SNP	.											SPNS3,NS,carcinoma,-1,1	SPNS3	52	1	0			c.T1502C						scavenged	.						115	105	109					17																	4391152		2203	4300	6503	SO:0001583	missense	201305	exon12			AAGGCCTACTTTC		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1502T>C	17.37:g.4391152T>C	ENSP00000347721:p.Leu501Pro	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	151	3	0.0198676	NM_182538	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172612	0.57584	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.30981	2.05;1.51	4.45	4.45	0.53987	.	1.232680	0.06377	N	0.714522	T	0.48077	0.1480	M	0.63428	1.95	0.24817	N	0.992601	D;D	0.61080	0.988;0.989	P;P	0.56700	0.804;0.726	T	0.27400	-1.0075	10	0.46703	T	0.11	-7.0686	10.388	0.44152	0.0:0.0:0.0:1.0	.	374;501	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	P	501;374	ENSP00000347721:L501P;ENSP00000333207:L374P	ENSP00000333207:L374P	L	+	2	0	SPNS3	4337901	0.614000	0.27017	0.069000	0.20011	0.047000	0.14425	2.121000	0.41977	2.232000	0.73038	0.402000	0.26972	CTA	.	.	none		0.617	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		C	4391152	T	C	4391152	3	2	23	1	0	0	0	0	1	0	0	0	15075	1522	53	3	1548	3	SPNS3	17	4391152	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	562450	4391152	76804058	3813	20269										
SPNS2	124976	hgsc.bcm.edu	37	chr17	4434031	4434031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctcttcaccaagaacacGcgtacgctcatgctgtccgt	8	15	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4434031G>A	ENST00000329078.3	+	4	888	c.678G>A	c.(676-678)acG>acA	p.T226T		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	226					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CCAAGAACACGCGTACGCTCA	0.627																																					p.T226T		Atlas-SNP	.											SPNS2,colon,carcinoma,+1,1	SPNS2	24	1	0			c.G678A						PASS	.						69	61	63					17																	4434031		1568	3582	5150	SO:0001819	synonymous_variant	124976	exon4			GAACACGCGTACG	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.678G>A	17.37:g.4434031G>A		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	205	103	0.502439	NM_001124758	B9A1T3	Silent	SNP	ENST00000329078.3	37	CCDS42237.1																																																																																			.	.	none		0.627	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			A	4434031	G	A	4434031	2	1	23	1	0	0	0	0	0	0	0	1	15074	1074	38	1		1	SPNS2	17	4434031	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	42879	4434031	76761179	3814	20270										
GGT6	124975	hgsc.bcm.edu	37	chr17	4463796	4463796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagcttctgatagaccacGggctcttctgcccgctccat	9	15	3	2	rs7216474	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4463796G>A	ENST00000574154.1	-	1	317	c.21C>T	c.(19-21)ccC>ccT	p.P7P	GGT6_ENST00000381550.3_Silent_p.P7P|GGT6_ENST00000301395.3_Silent_p.P7P|GGT6_ENST00000573591.1_5'Flank			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	7					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GATAGACCACGGGCTCTTCTG	0.657													G|||	740	0.147764	0.0658	0.111	5008	,	,		16135	0.0942		0.2286	False		,,,				2504	0.2566				p.P7P		Atlas-SNP	.											.	GGT6	22	.	0			c.C21T						PASS	.	G	,	371,4035	187.8+/-214.3	15,341,1847	69	61	64		21,21	-7.4	0	17	dbSNP_116	64	1957,6643	344.0+/-325.1	214,1529,2557	no	coding-synonymous,coding-synonymous	GGT6	NM_001122890.1,NM_153338.2	,	229,1870,4404	AA,AG,GG		22.7558,8.4203,17.8994	,	7/494,7/462	4463796	2328,10678	2203	4300	6503	SO:0001819	synonymous_variant	124975	exon1			GACCACGGGCTCT	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.21C>T	17.37:g.4463796G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	33	16	0.484848	NM_001122890	B4DUH4|Q8NCM0	Silent	SNP	ENST00000574154.1	37	CCDS45582.1																																																																																			G|0.838;A|0.162	0.162	strong		0.657	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		A	4463796	G	A	4463796	2	1	23	1	0	0	0	0	0	0	0	1	6363	1103	39	1		1	GGT6	17	4463796	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	29765	4463796	76731414	3815	20271										
VMO1	284013	hgsc.bcm.edu	37	chr17	4689313	4689313	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgatcccattcagtgcaGtgtcgtcgccaggaatgcct	11	13	1	1	rs2279961	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4689313G>C	ENST00000328739.5	-	2	309	c.230C>G	c.(229-231)aCt>aGt	p.T77S	VMO1_ENST00000354194.4_Intron|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000416307.2_Missense_Mutation_p.T77S|VMO1_ENST00000441199.2_Missense_Mutation_p.T77S	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	77			T -> S (in dbSNP:rs2279961).			extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						ATTCAGTGCAGTGTCGTCGCC	0.622													G|||	474	0.0946486	0.115	0.1052	5008	,	,		18607	0.0992		0.0994	False		,,,				2504	0.0501				p.T77S		Atlas-SNP	.											.	VMO1	19	.	0			c.C230G						PASS	.	G	SER/THR,SER/THR,,SER/THR	551,3855	249.3+/-256.8	32,487,1684	755	684	708		230,230,,230	4.4	0.9	17	dbSNP_100	708	914,7686	203.0+/-246.1	59,796,3445	yes	missense,missense,intron,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	58,58,,58	91,1283,5129	CC,CG,GG		10.6279,12.5057,11.264	probably-damaging,probably-damaging,,probably-damaging	77/115,77/103,,77/203	4689313	1465,11541	2203	4300	6503	SO:0001583	missense	284013	exon2			AGTGCAGTGTCGT	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.230C>G	17.37:g.4689313G>C	ENSP00000328397:p.Thr77Ser	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_182566	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	241	0.11034798534798534	63	0.12804878048780488	36	0.09944751381215469	64	0.11188811188811189	78	0.10290237467018469	G	16.26	3.073061	0.55646	0.125057	0.106279	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.52295	0.67;0.67;0.67	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.01523	0.0049	M	0.82132	2.575	0.09310	P	1.0	D;D;D	0.89917	1.0;1.0;0.98	D;D;P	0.97110	1.0;0.999;0.767	T	0.44952	-0.9294	9	0.66056	D	0.02	-14.9036	12.404	0.55428	0.0:0.0:1.0:0.0	rs2279961;rs4080467;rs17765171;rs2279961	77;77;77	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	S	77	ENSP00000328397:T77S;ENSP00000390450:T77S;ENSP00000408166:T77S	ENSP00000328397:T77S	T	-	2	0	VMO1	4636053	1.000000	0.71417	0.920000	0.36463	0.019000	0.09904	7.187000	0.77730	2.286000	0.76751	0.563000	0.77884	ACT	G|0.901;C|0.099	0.099	strong		0.622	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		C	4689313	G	C	4689313	3	2	23	1	0	0	0	0	1	0	0	0	17174	1029	36	4	420	4	VMO1	17	4689313	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	225517	4689313	76505897	3816	20272										
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4692559	4692559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacccagggcgcagccctgcGttccaggggaaacggcgccc	15	16	0	0	rs2304969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4692559G>T	ENST00000331264.7	+	2	198	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F	VMO1_ENST00000354194.4_5'Flank|VMO1_ENST00000328739.5_5'Flank|VMO1_ENST00000416307.2_5'Flank|VMO1_ENST00000441199.2_5'Flank	NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	49						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GCAGCCCTGCGTTCCAGGGGA	0.701													G|||	1370	0.273562	0.1369	0.1715	5008	,	,		13658	0.506		0.159	False		,,,				2504	0.409				p.V49F		Atlas-SNP	.											.	GLTPD2	15	.	0			c.G145T						PASS	.	G	PHE/VAL	630,3756		44,542,1607	10	12	12		145	-0.4	0	17	dbSNP_100	12	1217,7343		95,1027,3158	yes	missense	GLTPD2	NM_001014985.2	50	139,1569,4765	TT,TG,GG		14.2173,14.3639,14.267	benign	49/292	4692559	1847,11099	2193	4280	6473	SO:0001583	missense	388323	exon2			CCCTGCGTTCCAG	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.145G>T	17.37:g.4692559G>T	ENSP00000328070:p.Val49Phe	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	50	29	0.58	NM_001014985	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	535	0.24496336996336995	72	0.14634146341463414	57	0.1574585635359116	276	0.4825174825174825	130	0.17150395778364116	G	15.52	2.857505	0.51376	0.143639	0.142173	ENSG00000182327	ENST00000331264	.	.	.	4.3	-0.367	0.12541	.	1.040650	0.07588	N	0.921514	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	P	0.45768	0.866	B	0.41691	0.364	T	0.45469	-0.9259	8	0.59425	D	0.04	-13.4729	7.1891	0.25816	0.5324:0.0:0.4676:0.0	rs2304969;rs2304969	49	A6NH11	GLTD2_HUMAN	F	49	.	ENSP00000328070:V49F	V	+	1	0	GLTPD2	4639299	0.000000	0.05858	0.006000	0.13384	0.016000	0.09150	-0.045000	0.12003	0.013000	0.14918	-0.367000	0.07326	GTT	G|0.753;T|0.247	0.247	strong		0.701	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		T	4692559	G	T	4692559	3	4	23	1	0	0	0	0	1	0	0	0	6473	1145	40	4	151	4	GLTPD2	17	4692559	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3246	4692559	76502651	3817	20273										
PSMB6	5694	hgsc.bcm.edu	37	chr17	4699552	4699552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcttgggggccggaggcGttcactccagactgggaaag	17	11	1	1	rs3169950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4699552G>A	ENST00000270586.3	+	1	114	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	21					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GGCCGGAGGCGTTCACTCCAG	0.592													C|||	1348	0.269169	0.2368	0.4078	5008	,	,		14486	0.0982		0.4125	False		,,,				2504	0.2434				p.A21A		Atlas-SNP	.											.	PSMB6	20	.	0			c.G63A						PASS	.	C		1344,3042		215,914,1064	22	21	22		63	-5.4	0	17	dbSNP_105	22	3771,4819		847,2077,1371	no	coding-synonymous	PSMB6	NM_002798.1		1062,2991,2435	AA,AG,GG		43.8999,30.643,39.4189		21/240	4699552	5115,7861	2193	4295	6488	SO:0001819	synonymous_variant	5694	exon1			GGAGGCGTTCACT	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.63G>A	17.37:g.4699552G>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_002798	Q96J55	Silent	SNP	ENST00000270586.3	37	CCDS11056.1																																																																																			A|0.322;C|0.010;G|0.668;T|0.000	0.322	strong		0.592	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		A	4699552	G	A	4699552	2	1	23	1	0	0	0	0	0	0	0	1	12681	1132	40	1		1	PSMB6	17	4699552	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6993	4699552	76495658	3818	20274										
PLD2	5338	hgsc.bcm.edu	37	chr17	4720469	4720469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccaagtacaagactcccaCatacccctacctgcttccca	5	18	0	1	rs1052748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4720469C>T	ENST00000263088.6	+	17	1861	c.1730C>T	c.(1729-1731)aCa>aTa	p.T577I	PLD2_ENST00000572940.1_Missense_Mutation_p.T577I	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	577	Catalytic.		T -> I (in dbSNP:rs1052748). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9582313}.		cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AAGACTCCCACATACCCCTAC	0.617													C|||	1251	0.2498	0.1051	0.415	5008	,	,		17674	0.1062		0.4443	False		,,,				2504	0.2761				p.T577I		Atlas-SNP	.											.	PLD2	138	.	0			c.C1730T	GRCh37	CM030489	PLD2	M	rs1052748	PASS	.	C	ILE/THR	735,3671	302.4+/-287.4	67,601,1535	292	242	259		1730	-9	0	17	dbSNP_86	259	4136,4464	565.5+/-388.5	1006,2124,1170	yes	missense	PLD2	NM_002663.4	89	1073,2725,2705	TT,TC,CC		48.093,16.6818,37.4519	benign	577/934	4720469	4871,8135	2203	4300	6503	SO:0001583	missense	5338	exon17			CTCCCACATACCC	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1730C>T	17.37:g.4720469C>T	ENSP00000263088:p.Thr577Ile	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	180	73	0.405556	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	637	0.2916666666666667	67	0.13617886178861788	158	0.43646408839779005	52	0.09090909090909091	360	0.47493403693931396	C	0.323	-0.960831	0.02249	0.166818	0.48093	ENSG00000129219	ENST00000263088	T	0.21361	2.01	4.48	-8.96	0.00761	.	1.318270	0.04748	N	0.423943	T	0.00012	0.0000	N	0.12961	0.28	0.80722	P	0.0	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.38993	-0.9635	9	0.22109	T	0.4	3.9285	5.7643	0.18217	0.0887:0.4622:0.0898:0.3593	rs1052748;rs17856479;rs59776031;rs1052748	434;577;577	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	I	577	ENSP00000263088:T577I	ENSP00000263088:T577I	T	+	2	0	PLD2	4667435	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-1.345000	0.02637	-2.558000	0.00475	-1.223000	0.01593	ACA	C|0.670;T|0.330	0.330	strong		0.617	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		T	4720469	C	T	4720469	3	4	23	1	0	0	0	0	1	0	0	0	12046	478	17	2	1792	2	PLD2	17	4720469	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20917	4720469	76474741	3819	20275										
PLD2	5338	hgsc.bcm.edu	37	chr17	4722785	4722785	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacagtgagctggccgtgctGatcgaggacacagagacgga	16	9	0	3	rs1052751	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4722785G>A	ENST00000263088.6	+	23	2501	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	PLD2_ENST00000572940.1_Silent_p.L790L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	790					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGGCCGTGCTGATCGAGGACA	0.602													G|||	605	0.120807	0.1293	0.1715	5008	,	,		18999	0.0427		0.1829	False		,,,				2504	0.09				p.L790L		Atlas-SNP	.											.	PLD2	138	.	0			c.G2370A						PASS	.	G		510,3896	234.9+/-247.6	33,444,1726	107	79	88		2370	3.4	1	17	dbSNP_86	88	1459,7141	278.7+/-293.6	136,1187,2977	no	coding-synonymous	PLD2	NM_002663.4		169,1631,4703	AA,AG,GG		16.9651,11.5751,15.1392		790/934	4722785	1969,11037	2203	4300	6503	SO:0001819	synonymous_variant	5338	exon23			CGTGCTGATCGAG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2370G>A	17.37:g.4722785G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	111	57	0.513514	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																			G|0.863;A|0.137	0.137	strong		0.602	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		A	4722785	G	A	4722785	2	1	23	1	0	0	0	0	0	0	0	1	12046	1277	45	2		2	PLD2	17	4722785	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2316	4722785	76472425	3820	20276										
PLD2	5338	hgsc.bcm.edu	37	chr17	4722876	4722876	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgcggaagcactgcttcGggtagagctggggcgggatg	19	8	1	1	rs3764897	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4722876G>A	ENST00000263088.6	+	23	2592	c.2461G>A	c.(2461-2463)Ggt>Agt	p.G821S	PLD2_ENST00000572940.1_Intron	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	821			G -> R (in dbSNP:rs3764897).|G -> S (in dbSNP:rs3764897). {ECO:0000269|Ref.3}.		cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCACTGCTTCGGGTAGAGCTG	0.617													A|||	918	0.183307	0.3033	0.1671	5008	,	,		16910	0.1071		0.168	False		,,,				2504	0.1268				p.G821S		Atlas-SNP	.											.	PLD2	138	.	0			c.G2461A						PASS	.	A	SER/GLY	1198,3208	707.7+/-407.5	167,864,1172	68	51	57		2461	3.8	1	17	dbSNP_107	57	1363,7237	754.6+/-407.5	111,1141,3048	yes	missense-near-splice	PLD2	NM_002663.4	56	278,2005,4220	AA,AG,GG		15.8488,27.1902,19.6909	benign	821/934	4722876	2561,10445	2203	4300	6503	SO:0001630	splice_region_variant	5338	exon23			TGCTTCGGGTAGA	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2462+1G>A	17.37:g.4722876G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	69	36	0.521739	NM_002663	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	384	0.17582417582417584	162	0.32926829268292684	53	0.1464088397790055	55	0.09615384615384616	114	0.1503957783641161	A	11.54	1.668938	0.29604	0.271902	0.158488	ENSG00000129219	ENST00000263088	T	0.06142	3.34	3.82	3.82	0.43975	.	0.048535	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00128	-2.045	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	9	0.21540	T	0.41	-2.6275	7.5853	0.27989	0.893:0.0:0.107:0.0	rs3764897;rs3764897	821	O14939	PLD2_HUMAN	S	821	ENSP00000263088:G821S	ENSP00000263088:G821S	G	+	1	0	PLD2	4669842	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.580000	0.53907	0.645000	0.30675	-0.521000	0.04368	GGT	G|0.804;A|0.196	0.196	strong		0.617	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Missense_Mutation	A	4722876	G	A	4722876	5	1	23	1	0	0	0	0	0	0	1	0	12046	1130	39	1	2547	1	PLD2	17	4722876	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	91	4722876	76472334	3821	20277										
GPR172B	55065	hgsc.bcm.edu	37	chr17	4936898	4936898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctctgcacagaaggcagcaCgccattggtcacggcactgg	13	13	2	1	rs2304445	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:4936898C>T	ENST00000424747.1	-	3	1598	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SLC52A1_ENST00000512825.2_Missense_Mutation_p.V296M|SLC52A1_ENST00000254853.5_Missense_Mutation_p.V296M	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	296			V -> M (riboflavin transport is unaffected; dbSNP:rs2304445). {ECO:0000269|PubMed:21089064}.		riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GAAGGCAGCACGCCATTGGTC	0.637													C|||	1535	0.30651	0.1172	0.2565	5008	,	,		20856	0.506		0.1909	False		,,,				2504	0.5112				p.V296M		Atlas-SNP	.											GPR172B,caecum,carcinoma,0,1	.	.	1	0			c.G886A						PASS	.	C	MET/VAL,MET/VAL	533,3873	237.7+/-249.4	30,473,1700	80	61	68		886,886	-0.1	0	17	dbSNP_100	68	1476,7124	276.7+/-292.4	148,1180,2972	yes	missense,missense	GPR172B	NM_001104577.1,NM_017986.3	21,21	178,1653,4672	TT,TC,CC		17.1628,12.0971,15.4467	probably-damaging,probably-damaging	296/449,296/449	4936898	2009,10997	2203	4300	6503	SO:0001583	missense	55065	exon3			GCAGCACGCCATT	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.886G>A	17.37:g.4936898C>T	ENSP00000399979:p.Val296Met	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	36	0.48	NM_017986	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	586	0.2683150183150183	63	0.12804878048780488	89	0.24585635359116023	287	0.5017482517482518	147	0.19393139841688653	C	13.01	2.108368	0.37242	0.120971	0.171628	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.75050	-0.9;-0.9;-0.9	0.913	-0.105	0.13601	.	0.140324	0.47455	D	0.000222	T	0.00012	0.0000	L	0.53729	1.69	0.22330	P	0.999199579	D;D	0.89917	0.968;1.0	P;D	0.74348	0.646;0.983	T	0.40289	-0.9571	9	0.56958	D	0.05	.	3.6344	0.08143	0.0:0.4642:0.0:0.5358	rs2304445;rs59882655;rs2304445	296;296	F5H5Y1;Q9NWF4	.;RFT_HUMAN	M	296	ENSP00000254853:V296M;ENSP00000443026:V296M;ENSP00000399979:V296M	ENSP00000254853:V296M	V	-	1	0	GPR172B	4877622	0.120000	0.22244	0.001000	0.08648	0.008000	0.06430	0.399000	0.20916	-0.032000	0.13758	0.655000	0.94253	GTG	C|0.783;T|0.217	0.217	strong		0.637	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		T	4936898	C	T	4936898	3	4	23	1	0	0	0	0	1	0	0	0	6670	536	19	1	472	1	GPR172B	17	4936898	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	214022	4936898	76258312	3822	20278										
WSCD1	23302	hgsc.bcm.edu	37	chr17	6023792	6023792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctcaacgtgtctgtgagCgaggagcggctgctctgcgt	14	11	3	1	rs16955477	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:6023792C>T	ENST00000574946.1	+	9	1929	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	WSCD1_ENST00000539421.1_Silent_p.S513S|WSCD1_ENST00000574232.1_Silent_p.S513S|WSCD1_ENST00000317744.5_Silent_p.S513S|WSCD1_ENST00000573634.1_Silent_p.S397S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	513						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGTCTGTGAGCGAGGAGCGGC	0.667													C|||	80	0.0159744	0.0	0.0259	5008	,	,		17440	0.002		0.0378	False		,,,				2504	0.0225				p.S513S		Atlas-SNP	.											.	WSCD1	84	.	0			c.C1539T						PASS	.	C		30,4376	36.0+/-67.5	0,30,2173	80	76	77		1539	-2.3	1	17	dbSNP_123	77	353,8247	119.2+/-178.6	6,341,3953	no	coding-synonymous	WSCD1	NM_015253.1		6,371,6126	TT,TC,CC		4.1047,0.6809,2.9448		513/576	6023792	383,12623	2203	4300	6503	SO:0001819	synonymous_variant	23302	exon9			TGTGAGCGAGGAG		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1539C>T	17.37:g.6023792C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	86	36	0.418605	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	CCDS32538.1																																																																																			C|0.974;T|0.026	0.026	strong		0.667	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		T	6023792	C	T	6023792	2	4	23	1	0	0	0	0	0	0	0	1	17403	767	27	1		1	WSCD1	17	6023792	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1086894	6023792	75171418	3823	20279										
AIPL1	23746	hgsc.bcm.edu	37	chr17	6331817	6331817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgggataggatggggtagaCccccgtgtgctgtggggata	18	8	0	1	rs62619924	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:6331817C>T	ENST00000381129.3	-	3	366	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	AIPL1_ENST00000571740.1_Missense_Mutation_p.V96I|AIPL1_ENST00000574506.1_Missense_Mutation_p.V84I|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576307.1_Missense_Mutation_p.V36I|AIPL1_ENST00000570466.1_Missense_Mutation_p.V74I|AIPL1_ENST00000575265.1_Missense_Mutation_p.V96I|AIPL1_ENST00000576776.1_Missense_Mutation_p.V96I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	96	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ATGGGGTAGACCCCCGTGTGC	0.632													C|||	22	0.00439297	0.0023	0.0	5008	,	,		18850	0.0		0.0189	False		,,,				2504	0.0				p.V96I		Atlas-SNP	.											.	AIPL1	34	.	0			c.G286A	GRCh37	CM003227	AIPL1	M	rs62619924	PASS	.	C	,ILE/VAL,ILE/VAL	30,4376	36.0+/-67.5	0,30,2173	69	57	61		,106,286	3.8	1	17	dbSNP_129	61	187,8413	81.8+/-144.4	1,185,4114	yes	intron,missense,missense	AIPL1	NM_001033054.1,NM_001033055.1,NM_014336.3	,29,29	1,215,6287	TT,TC,CC		2.1744,0.6809,1.6685	,benign,benign	,36/325,96/385	6331817	217,12789	2203	4300	6503	SO:0001583	missense	23746	exon3			GGTAGACCCCCGT	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.286G>A	17.37:g.6331817C>T	ENSP00000370521:p.Val96Ile	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_014336	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	CCDS11075.1	18	0.008241758241758242	1	0.0020325203252032522	0	0.0	0	0.0	17	0.022427440633245383	C	11.59	1.685305	0.29872	0.006809	0.021744	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	D	0.88201	-2.35	4.77	3.78	0.43462	.	0.397731	0.27526	N	0.018964	T	0.68229	0.2978	L	0.33485	1.01	0.32392	N	0.553123	B;B;B;B;B	0.25441	0.046;0.029;0.011;0.126;0.016	B;B;B;B;B	0.22386	0.038;0.009;0.022;0.039;0.034	T	0.74325	-0.3702	10	0.35671	T	0.21	-40.7753	6.5941	0.22664	0.1814:0.7207:0.0:0.0979	rs62619924	96;74;96;36;96	Q659W3;Q659W4;F1T0C4;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	I	96;36;96	ENSP00000370521:V96I	ENSP00000370520:V36I	V	-	1	0	AIPL1	6272541	0.050000	0.20438	0.995000	0.50966	0.825000	0.46686	0.274000	0.18680	2.353000	0.79882	0.462000	0.41574	GTC	C|0.985;T|0.015	0.015	strong		0.632	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		T	6331817	C	T	6331817	3	4	23	1	0	0	0	0	1	0	0	0	436	507	18	2	884	2	AIPL1	17	6331817	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	308025	6331817	74863393	3824	20280										
TEKT1	83659	hgsc.bcm.edu	37	chr17	6704121	6704121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattagcctatattgtgcgaCatcacgacacagctccacgt	7	13	1	0	rs2271233	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:6704121C>T	ENST00000338694.2	-	7	1123	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	TEKT1_ENST00000535086.1_Missense_Mutation_p.V186I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	332			V -> I (in dbSNP:rs2271233).			cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TATTGTGCGACATCACGACAC	0.562											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	255	0.0509185	0.0015	0.0403	5008	,	,		19687	0.0516		0.0746	False		,,,				2504	0.1002				p.V332I		Atlas-SNP	.											TEKT1,rectum,carcinoma,+2,1	TEKT1	49	1	0			c.G994A						PASS	.	C	ILE/VAL	68,4338	61.7+/-98.7	1,66,2136	232	208	216		994	1.5	0	17	dbSNP_100	216	694,7906	172.2+/-222.9	30,634,3636	yes	missense	TEKT1	NM_053285.1	29	31,700,5772	TT,TC,CC		8.0698,1.5433,5.8588	benign	332/419	6704121	762,12244	2203	4300	6503	SO:0001583	missense	83659	exon7			GTGCGACATCACG		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.994G>A	17.37:g.6704121C>T	ENSP00000341346:p.Val332Ile	Somatic	232	0	0	636	WXS	Illumina HiSeq	Phase_I	287	148	0.515679	NM_053285	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	88	0.040293040293040296	1	0.0020325203252032522	20	0.055248618784530384	8	0.013986013986013986	59	0.07783641160949868	C	10.03	1.239842	0.22711	0.015433	0.080698	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02472	4.28;4.28	5.85	1.46	0.22682	.	0.545369	0.19348	N	0.116471	T	0.00144	0.0004	L	0.27053	0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	9	0.35671	T	0.21	.	5.0249	0.14379	0.0:0.5096:0.1422:0.3482	rs2271233;rs17202721;rs52797408;rs60310395;rs2271233	332	Q969V4	TEKT1_HUMAN	I	332;186	ENSP00000341346:V332I;ENSP00000444142:V186I	ENSP00000341346:V332I	V	-	1	0	TEKT1	6644845	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.230000	0.09083	0.119000	0.18210	0.655000	0.94253	GTC	C|0.951;T|0.049	0.049	strong		0.562	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		T	6704121	C	T	6704121	3	4	23	1	0	0	0	0	1	0	0	0	15749	478	17	2	270	2	TEKT1	17	6704121	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	372304	6704121	74491089	3825	20281										
SLC16A13	201232	hgsc.bcm.edu	37	chr17	6942108	6942108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggccccactggccttctcCgtgctgcctgaactaatagg	10	15	1	1	rs11078663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:6942108C>T	ENST00000308027.6	+	3	1289	c.981C>T	c.(979-981)tcC>tcT	p.S327S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	327						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGGCCTTCTCCGTGCTGCCTG	0.607													C|||	1763	0.352037	0.0469	0.4035	5008	,	,		18080	0.5149		0.6044	False		,,,				2504	0.3006				p.S327S		Atlas-SNP	.											.	SLC16A13	28	.	0			c.C981T						PASS	.	C		571,3835	247.5+/-255.7	51,469,1683	72	79	76		981	-0.4	1	17	dbSNP_120	76	5171,3429	621.5+/-397.2	1612,1947,741	no	coding-synonymous	SLC16A13	NM_201566.2		1663,2416,2424	TT,TC,CC		39.8721,12.9596,44.1489		327/427	6942108	5742,7264	2203	4300	6503	SO:0001819	synonymous_variant	201232	exon3			CTTCTCCGTGCTG	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.981C>T	17.37:g.6942108C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	112	51	0.455357	NM_201566	A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	CCDS11085.1																																																																																			C|0.571;T|0.429	0.429	strong		0.607	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			T	6942108	C	T	6942108	2	4	23	1	0	0	0	0	0	0	0	1	14406	639	23	1		1	SLC16A13	17	6942108	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	237987	6942108	74253102	3826	20282										
SLC16A13	201232	hgsc.bcm.edu	37	chr17	6943266	6943266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcccctacccaaggagggGctggaagaggactgaactcc	13	12	0	2	rs4796576	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:6943266G>A	ENST00000308027.6	+	4	1574	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	422						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCAAGGAGGGGCTGGAAGAGG	0.542													G|||	2803	0.559704	0.4213	0.4784	5008	,	,		17379	0.7758		0.667	False		,,,				2504	0.4714				p.G422G		Atlas-SNP	.											.	SLC16A13	28	.	0			c.G1266A						PASS	.	G		2011,2395	559.3+/-380.2	486,1039,678	90	97	95		1266	-4.1	0	17	dbSNP_111	95	5765,2835	674.0+/-403.1	1954,1857,489	no	coding-synonymous	SLC16A13	NM_201566.2		2440,2896,1167	AA,AG,GG		32.9651,45.6423,40.2122		422/427	6943266	7776,5230	2203	4300	6503	SO:0001819	synonymous_variant	201232	exon4			GGAGGGGCTGGAA	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.1266G>A	17.37:g.6943266G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	81	39	0.481481	NM_201566	A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	CCDS11085.1																																																																																			G|0.412;A|0.588	0.588	strong		0.542	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			A	6943266	G	A	6943266	2	1	23	1	0	0	0	0	0	0	0	1	14406	1190	42	2		2	SLC16A13	17	6943266	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1158	6943266	74251944	3827	20283										
DLG4	1742	hgsc.bcm.edu	37	chr17	7099811	7099811	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttctggtttatactgagcGatgatcgtgaccgtctgacc	10	11	2	4	rs17203281	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7099811G>A	ENST00000399506.2	-	10	1358	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	DLG4_ENST00000399510.2_Silent_p.I432I|DLG4_ENST00000302955.6_Silent_p.I386I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	389	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TATACTGAGCGATGATCGTGA	0.542													G|||	1232	0.246006	0.1831	0.2349	5008	,	,		22199	0.3155		0.331	False		,,,				2504	0.18				p.I432I		Atlas-SNP	.											.	DLG4	110	.	0			c.C1296T						PASS	.	G	,	781,3401		71,639,1381	76	72	74		1158,1296	-2.8	1	17	dbSNP_123	74	2570,5840		396,1778,2031	no	coding-synonymous,coding-synonymous	DLG4	NM_001128827.1,NM_001365.3	,	467,2417,3412	AA,AG,GG		30.5589,18.6753,26.6121	,	386/722,432/768	7099811	3351,9241	2091	4205	6296	SO:0001819	synonymous_variant	1742	exon12			CTGAGCGATGATC	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1167C>T	17.37:g.7099811G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	140	63	0.45	NM_001365	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37																																																																																				G|0.742;A|0.258	0.258	strong		0.542	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		A	7099811	G	A	7099811	2	1	23	1	0	0	0	0	0	0	0	1	4557	1048	37	1		1	DLG4	17	7099811	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	156545	7099811	74095399	3828	20284										
DVL2	1856	hgsc.bcm.edu	37	chr17	7129840	7129840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggggtgtggggcagggtaTtggtaggagaaagtgggcag	22	2	0	1	rs35594616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7129840T>C	ENST00000005340.5	-	14	1944	c.1662A>G	c.(1660-1662)caA>caG	p.Q554Q	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Silent_p.Q548Q	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	554					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGGCAGGGTATTGGTAGGAGA	0.617													T|||	2602	0.519569	0.416	0.4957	5008	,	,		15735	0.4732		0.6233	False		,,,				2504	0.6176				p.Q554Q		Atlas-SNP	.											.	DVL2	49	.	0			c.A1662G						PASS	.	T		1944,2462	545.8+/-376.9	413,1118,672	51	55	54		1662	-2.7	0.9	17	dbSNP_126	54	5380,3220	646.5+/-400.3	1695,1990,615	no	coding-synonymous	DVL2	NM_004422.2		2108,3108,1287	CC,CT,TT		37.4419,44.1217,43.6875		554/737	7129840	7324,5682	2203	4300	6503	SO:0001819	synonymous_variant	1856	exon14			AGGGTATTGGTAG	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1662A>G	17.37:g.7129840T>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	69	68	0.985507	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			T|0.449;C|0.551	0.551	strong		0.617	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		C	7129840	T	C	7129840	2	2	23	1	0	0	0	0	0	0	0	1	4836	1490	52	2		2	DVL2	17	7129840	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	30029	7129840	74065370	3829	20285										
DVL2	1856	hgsc.bcm.edu	37	chr17	7133162	7133162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcgtccgagtcccccagGctggtactctccagctcgct	9	18	1	0	rs222836	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7133162G>A	ENST00000005340.5	-	5	903	c.621C>T	c.(619-621)agC>agT	p.S207S	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.S201S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	207					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						AGTCCCCCAGGCTGGTACTCT	0.657													G|||	2264	0.452077	0.3018	0.451	5008	,	,		18255	0.4712		0.5109	False		,,,				2504	0.5757				p.S207S		Atlas-SNP	.											.	DVL2	49	.	0			c.C621T						PASS	.	G		1510,2896	479.2+/-358.4	248,1014,941	80	86	84		621	3.1	1	17	dbSNP_79	84	4449,4151	587.6+/-392.2	1154,2141,1005	no	coding-synonymous	DVL2	NM_004422.2		1402,3155,1946	AA,AG,GG		48.2674,34.2714,45.8173		207/737	7133162	5959,7047	2203	4300	6503	SO:0001819	synonymous_variant	1856	exon5			CCCCAGGCTGGTA	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.621C>T	17.37:g.7133162G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	86	86	1	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			G|0.552;A|0.448	0.448	strong		0.657	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		A	7133162	G	A	7133162	2	1	23	1	0	0	0	0	0	0	0	1	4836	1194	42	2		2	DVL2	17	7133162	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3322	7133162	74062048	3830	20286										
DVL2	1856	hgsc.bcm.edu	37	chr17	7133609	7133609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctgaaggactcactggaaGgatggaggccttgagtcccc	13	10	2	2	rs2074216	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7133609G>A	ENST00000005340.5	-	3	687	c.405C>T	c.(403-405)tcC>tcT	p.S135S	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.S135S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	135					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCACTGGAAGGATGGAGGCC	0.622													G|||	1666	0.332668	0.267	0.268	5008	,	,		17320	0.3859		0.3777	False		,,,				2504	0.3661				p.S135S		Atlas-SNP	.											.	DVL2	49	.	0			c.C405T						PASS	.	G		1167,3239	403.3+/-332.7	152,863,1188	88	97	94		405	-0.9	1	17	dbSNP_96	94	3061,5539	463.4+/-366.0	548,1965,1787	no	coding-synonymous	DVL2	NM_004422.2		700,2828,2975	AA,AG,GG		35.593,26.4866,32.5081		135/737	7133609	4228,8778	2203	4300	6503	SO:0001819	synonymous_variant	1856	exon3			CTGGAAGGATGGA	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.405C>T	17.37:g.7133609G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	91	48	0.527473	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			G|0.674;A|0.326	0.326	strong		0.622	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		A	7133609	G	A	7133609	2	1	23	1	0	0	0	0	0	0	0	1	4836	987	35	2		2	DVL2	17	7133609	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	447	7133609	74061601	3831	20287										
SLC2A4	6517	hgsc.bcm.edu	37	chr17	7187123	7187123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcctcatgggcctggccaaTgctgctgcctcctatgaaat	10	13	1	1	rs5435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7187123T>C	ENST00000317370.8	+	4	658	c.390T>C	c.(388-390)aaT>aaC	p.N130N	SLC2A4_ENST00000571308.1_Silent_p.N130N|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.N120N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	130					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCCTGGCCAATGCTGCTGCCT	0.602													C|||	3493	0.697484	0.913	0.6081	5008	,	,		19792	0.625		0.6064	False		,,,				2504	0.638				p.N130N		Atlas-SNP	.											.	SLC2A4	44	.	0			c.T390C						PASS	.	C		3716,690	288.1+/-279.7	1576,564,63	68	61	63		390	-11.5	0	17	dbSNP_52	63	5363,3237	487.6+/-372.2	1696,1971,633	no	coding-synonymous	SLC2A4	NM_001042.2		3272,2535,696	CC,CT,TT		37.6395,15.6605,30.1938		130/510	7187123	9079,3927	2203	4300	6503	SO:0001819	synonymous_variant	6517	exon4			GGCCAATGCTGCT	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.390T>C	17.37:g.7187123T>C		Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	119	119	1	NM_001042	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	CCDS11097.1																																																																																			C|0.701;N|0.001	0.701	strong		0.602	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			C	7187123	T	C	7187123	2	2	23	1	0	0	0	0	0	0	0	1	14546	1461	51	2		2	SLC2A4	17	7187123	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	53514	7187123	74008087	3832	20288										
TNK1	8711	hgsc.bcm.edu	37	chr17	7286326	7286326	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagttttactggcccatcctTgaggagcttaatgtcactcg	9	11	1	1	rs1554948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7286326T>A	ENST00000576812.1	+	2	450	c.81T>A	c.(79-81)ctT>ctA	p.L27L	TNK1_ENST00000570896.1_Silent_p.L27L|TNK1_ENST00000311668.2_Silent_p.L27L	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGCCCATCCTTGAGGAGCTTA	0.592													.|||	1926	0.384585	0.2965	0.3314	5008	,	,		19751	0.2579		0.4533	False		,,,				2504	0.6012				p.L27L		Atlas-SNP	.											.	TNK1	31	.	0			c.T81A						PASS	.	T		1350,2944		239,872,1036	58	62	61		81	-10.1	0.4	17	dbSNP_88	61	3920,4584		935,2050,1267	no	coding-synonymous	TNK1	NM_003985.3		1174,2922,2303	AA,AT,TT		46.096,31.4392,41.1783		27/662	7286326	5270,7528	2147	4252	6399	SO:0001819	synonymous_variant	8711	exon2			CATCCTTGAGGAG	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.81T>A	17.37:g.7286326T>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	110	110	1	NM_003985		Silent	SNP	ENST00000576812.1	37	CCDS58510.1																																																																																			T|0.623;A|0.377	0.377	strong		0.592	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		A	7286326	T	A	7286326	2	1	23	1	0	0	0	0	0	0	0	1	16314	1799	63	5		5	TNK1	17	7286326	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	99203	7286326	73908884	3833	20289										
SENP3	26168	hgsc.bcm.edu	37	chr17	7468277	7468277	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctctccctttccaccaggCatcttggacgaattccttca	5	16	3	0	rs35596387	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7468277C>T	ENST00000429205.2	+	4	1006	c.957C>T	c.(955-957)agC>agT	p.S319S	SENP3_ENST00000321337.7_Splice_Site_p.S319S|SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	319						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				TTCCACCAGGCATCTTGGACG	0.532													C|||	125	0.0249601	0.0	0.0086	5008	,	,		19654	0.0		0.0388	False		,,,				2504	0.0818				p.S319S		Atlas-SNP	.											.	SENP3	18	.	0			c.C957T						PASS	.	C		21,3889		0,21,1934	53	56	55		957	4.5	1	17	dbSNP_126	55	266,8028		7,252,3888	yes	coding-synonymous-near-splice	SENP3	NM_015670.5		7,273,5822	TT,TC,CC		3.2071,0.5371,2.3517		319/575	7468277	287,11917	1955	4147	6102	SO:0001630	splice_region_variant	26168	exon4			ACCAGGCATCTTG	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.956-1C>T	17.37:g.7468277C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	46	22	0.478261	NM_015670	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	37																																																																																				C|0.976;T|0.024	0.024	strong		0.532	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670	Silent	T	7468277	C	T	7468277	5	4	23	1	0	0	0	0	0	0	1	0	14048	724	25	2	967	2	SENP3	17	7468277	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	181951	7468277	73726933	3834	20290										
CNTROB	116840	hgsc.bcm.edu	37	chr17	7843053	7843053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaggagagccaggctcagCtggaaagggagaaggtaaaa	17	5	1	2	rs11078719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7843053C>T	ENST00000563694.1	+	8	2075	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	CNTROB_ENST00000380262.3_Silent_p.L384L|CNTROB_ENST00000380255.3_Silent_p.L384L|CNTROB_ENST00000565740.1_Silent_p.L384L	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	384	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCAGGCTCAGCTGGAAAGGGA	0.522													T|||	2979	0.594848	0.4433	0.6398	5008	,	,		20015	0.8016		0.4274	False		,,,				2504	0.727				p.L384L		Atlas-SNP	.											.	CNTROB	61	.	0			c.C1150T						PASS	.	T	,	2044,2362	578.7+/-384.7	482,1080,641	45	48	47		1150,1150	-6.8	0.2	17	dbSNP_120	47	3745,4853	586.7+/-392.1	829,2087,1383	no	coding-synonymous,coding-synonymous	CNTROB	NM_001037144.5,NM_053051.3	,	1311,3167,2024	TT,TC,CC		43.5566,46.3913,44.5171	,	384/926,384/904	7843053	5789,7215	2203	4299	6502	SO:0001819	synonymous_variant	116840	exon8			GCTCAGCTGGAAA	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1150C>T	17.37:g.7843053C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	59	59	1	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	CCDS11126.1																																																																																			C|0.506;T|0.494	0.494	strong		0.522	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		T	7843053	C	T	7843053	2	4	23	1	0	0	0	0	0	0	0	1	3651	796	28	2		2	CNTROB	17	7843053	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	374776	7843053	73352157	3835	20291										
CNTROB	116840	hgsc.bcm.edu	37	chr17	7847955	7847955	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcccgccgcccaaccctcCagtacgccttaccccttgag	6	21	1	1	rs11650083	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7847955C>A	ENST00000563694.1	+	12	2658	c.1733C>A	c.(1732-1734)cCa>cAa	p.P578Q	CNTROB_ENST00000380262.3_Splice_Site_p.P578Q|CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Splice_Site_p.P578Q	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	578	Pro-rich.|Required for centrosome localization.		P -> Q (in dbSNP:rs11650083). {ECO:0000269|PubMed:11984006, ECO:0000269|PubMed:14702039}.		centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCCAACCCTCCAGTACGCCTT	0.557													C|||	3028	0.604633	0.447	0.6614	5008	,	,		4301	0.8016		0.4493	False		,,,				2504	0.7342				p.P578Q		Atlas-SNP	.											CNTROB,colon,carcinoma,0,1	CNTROB	61	1	0			c.C1733A						scavenged	.	C	GLN/PRO,GLN/PRO	2082,2324	571.4+/-383.1	501,1080,622	99	91	94		1733,1733	-2.4	0	17	dbSNP_120	94	3952,4648	547.5+/-385.2	914,2124,1262	yes	missense-near-splice,missense-near-splice	CNTROB	NM_001037144.5,NM_053051.3	76,76	1415,3204,1884	AA,AC,CC		45.9535,47.2537,46.394	benign,benign	578/926,578/904	7847955	6034,6972	2203	4300	6503	SO:0001630	splice_region_variant	116840	exon12			ACCCTCCAGTACG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1734+1C>A	17.37:g.7847955C>A		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	83	83	1	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	1225	0.5608974358974359	234	0.47560975609756095	220	0.6077348066298343	424	0.7412587412587412	347	0.4577836411609499	C	8.908	0.957899	0.18507	0.472537	0.459535	ENSG00000170037	ENST00000380262	T	0.38077	1.16	4.56	-2.37	0.06643	.	1.024840	0.07770	N	0.951533	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.12156	0.001;0.001;0.007	T	0.40757	-0.9546	9	0.10902	T	0.67	-1.0583	4.5619	0.12165	0.5422:0.2684:0.0:0.1895	rs11650083;rs52795073;rs57150255;rs11650083	578;578;578	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	Q	578	ENSP00000369614:P578Q	ENSP00000369614:P578Q	P	+	2	0	CNTROB	7788680	0.021000	0.18746	0.002000	0.10522	0.010000	0.07245	-0.104000	0.10923	-0.113000	0.11958	0.561000	0.74099	CCA	C|0.491;A|0.509	0.509	strong		0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051	Missense_Mutation	A	7847955	C	A	7847955	5	1	23	1	0	0	0	0	0	0	1	0	3651	608	21	4	1779	4	CNTROB	17	7847955	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4902	7847955	73347255	3836	20292										
GUCY2D	3000	hgsc.bcm.edu	37	chr17	7906519	7906519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagccccccgccctctccGccgtgttcacggtgggggtc	13	18	2	0	rs61749665	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7906519G>T	ENST00000254854.4	+	2	304	c.154G>T	c.(154-156)Gcc>Tcc	p.A52S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	52			A -> S (in LCA1; unknown pathological significance; dbSNP:rs61749665). {ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:8944027}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				cgccctctccgccgTGTTCAC	0.776													G|||	2083	0.415935	0.1369	0.4107	5008	,	,		7307	0.6935		0.327	False		,,,				2504	0.6022				p.A52S		Atlas-SNP	.											.	GUCY2D	82	.	0			c.G154T						PASS	.	G	SER/ALA	396,2736		31,334,1201	2	2	2	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	154	0.2	0	17	dbSNP_129	2	1601,4981		200,1201,1890	no	missense	GUCY2D	NM_000180.3	99	231,1535,3091	TT,TG,GG		24.3239,12.6437,20.558	benign	52/1104	7906519	1997,7717	1566	3291	4857	SO:0001583	missense	3000	exon2			CTCTCCGCCGTGT	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.154G>T	17.37:g.7906519G>T	ENSP00000254854:p.Ala52Ser	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	18	18	1	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	823	0.3768315018315018	61	0.12398373983739837	132	0.36464088397790057	383	0.6695804195804196	247	0.3258575197889182	G	10.96	1.499163	0.26861	0.126437	0.243239	ENSG00000132518	ENST00000254854	D	0.83075	-1.68	4.65	0.187	0.15109	.	0.608923	0.13562	N	0.378720	T	0.00012	0.0000	M	0.65498	2.005	0.80722	P	0.0	B	0.27117	0.168	B	0.21546	0.035	T	0.48681	-0.9014	9	0.09590	T	0.72	.	3.8844	0.09091	0.2473:0.0:0.4661:0.2866	rs61749665	52	Q02846	GUC2D_HUMAN	S	52	ENSP00000254854:A52S	ENSP00000254854:A52S	A	+	1	0	GUCY2D	7847244	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.039000	0.12124	-0.193000	0.10415	-0.188000	0.12872	GCC	G|0.623;T|0.377	0.377	strong		0.776	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7906519	G	T	7906519	3	4	23	1	0	0	0	0	1	0	0	0	6897	1087	38	4	156	4	GUCY2D	17	7906519	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	58564	7906519	73288691	3837	20293										
GUCY2D	3000	hgsc.bcm.edu	37	chr17	7918754	7918754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactggacatcctcagtgccGtgggcactttccgcatgcgc	11	15	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7918754G>A	ENST00000254854.4	+	15	3028	c.2878G>A	c.(2878-2880)Gtg>Atg	p.V960M		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	960	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CCTCAGTGCCGTGGGCACTTT	0.637																																					p.V960M		Atlas-SNP	.											GUCY2D_ENST00000254854,NS,carcinoma,0,2	GUCY2D	82	2	0			c.G2878A						scavenged	.						50	42	45					17																	7918754		2203	4300	6503	SO:0001583	missense	3000	exon15			AGTGCCGTGGGCA	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2878G>A	17.37:g.7918754G>A	ENSP00000254854:p.Val960Met	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	98	2	0.0204082	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139257	0.77775	.	.	ENSG00000132518	ENST00000254854	D	0.84944	-1.92	4.92	4.92	0.64577	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.45126	D	0.000385	D	0.88489	0.6450	L	0.33624	1.015	0.43036	D	0.99461	D	0.89917	1.0	D	0.80764	0.994	D	0.89672	0.3884	10	0.62326	D	0.03	.	17.0538	0.86527	0.0:0.0:1.0:0.0	.	960	Q02846	GUC2D_HUMAN	M	960	ENSP00000254854:V960M	ENSP00000254854:V960M	V	+	1	0	GUCY2D	7859479	1.000000	0.71417	0.954000	0.39281	0.944000	0.59088	4.781000	0.62389	2.546000	0.85860	0.467000	0.42956	GTG	.	.	none		0.637	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			A	7918754	G	A	7918754	3	1	23	1	0	0	0	0	1	0	0	0	6897	1145	40	1	2932	1	GUCY2D	17	7918754	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12235	7918754	73276456	3838	20294										
ALOX12B	242	hgsc.bcm.edu	37	chr17	7989492	7989492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttgtgcaggcggatgatgAtgagctcacccaggtcctga	13	10	1	4	rs542947562		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7989492A>G	ENST00000319144.4	-	2	454	c.194T>C	c.(193-195)aTc>aCc	p.I65T	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	65	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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						GCGGATGATGATGAGCTCACC	0.612										Multiple Myeloma(8;0.094)			A|||	1	0.000199681	0.0	0.0	5008	,	,		19749	0.0		0.001	False		,,,				2504	0.0				p.I65T		Atlas-SNP	.											.	ALOX12B	61	.	0			c.T194C						PASS	.						111	90	97					17																	7989492		2203	4300	6503	SO:0001583	missense	242	exon2			ATGATGATGAGCT	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.194T>C	17.37:g.7989492A>G	ENSP00000315167:p.Ile65Thr	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	266	130	0.488722	NM_001139		Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595105	0.46318	.	.	ENSG00000179477	ENST00000319144	T	0.63417	-0.04	4.58	3.48	0.39840	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.253600	0.39909	N	0.001228	T	0.46502	0.1396	N	0.21142	0.635	0.29604	N	0.847425	B	0.29955	0.263	B	0.29440	0.102	T	0.49504	-0.8933	10	0.62326	D	0.03	-23.0942	10.4946	0.44770	0.8365:0.1635:0.0:0.0	.	65	O75342	LX12B_HUMAN	T	65	ENSP00000315167:I65T	ENSP00000315167:I65T	I	-	2	0	ALOX12B	7930217	0.990000	0.36364	0.952000	0.39060	0.922000	0.55478	7.844000	0.86867	0.765000	0.33221	0.529000	0.55759	ATC	.	.	none		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			G	7989492	A	G	7989492	3	3	23	1	0	0	0	0	1	0	0	0	537	333	12	2	1967	2	ALOX12B	17	7989492	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	70738	7989492	73205718	3839	20295										
ALOXE3	59344	hgsc.bcm.edu	37	chr17	7999957	7999957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggtggttagatggagacGctgttctcaatgaggggagg	20	4	1	3	rs3809881	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:7999957G>A	ENST00000448843.2	-	16	2464	c.2124C>T	c.(2122-2124)agC>agT	p.S708S	ALOXE3_ENST00000318227.3_Silent_p.S840S|ALOXE3_ENST00000380149.1_Silent_p.S864S	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	708	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AGATGGAGACGCTGTTCTCAA	0.582													G|||	2127	0.42472	0.2504	0.5735	5008	,	,		18332	0.6022		0.4205	False		,,,				2504	0.3763				p.S840S		Atlas-SNP	.											ALOXE3_ENST00000318227,NS,carcinoma,0,2	ALOXE3	145	2	0			c.C2520T						scavenged	.	G	,	1211,3195	419.8+/-338.8	161,889,1153	183	167	172		2520,2124	-9	0.2	17	dbSNP_107	172	3581,5019	518.5+/-379.3	754,2073,1473	no	coding-synonymous,coding-synonymous	ALOXE3	NM_001165960.1,NM_021628.2	,	915,2962,2626	AA,AG,GG		41.6395,27.4852,36.8445	,	840/844,708/712	7999957	4792,8214	2203	4300	6503	SO:0001819	synonymous_variant	59344	exon16			GGAGACGCTGTTC	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.2124C>T	17.37:g.7999957G>A		Somatic	330	3	0.00909091		WXS	Illumina HiSeq	Phase_I	330	162	0.490909	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	CCDS11130.1																																																																																			G|0.593;A|0.407	0.407	strong		0.582	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			A	7999957	G	A	7999957	2	1	23	1	0	0	0	0	0	0	0	1	542	1078	38	1		1	ALOXE3	17	7999957	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10465	7999957	73195253	3840	20296										
HES7	84667	hgsc.bcm.edu	37	chr17	8026364	8026364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgacctggtcccgggtccgCtccagcagcagcagcctcag	12	17	1	1	rs61731639	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8026364C>T	ENST00000317814.4	-	2	122	c.123G>A	c.(121-123)gaG>gaA	p.E41E	HES7_ENST00000541682.2_Silent_p.E41E			Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	41	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				mesoderm development (GO:0007498)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|post-anal tail morphogenesis (GO:0036342)|regulation of somitogenesis (GO:0014807)|rhythmic process (GO:0048511)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)										CCCGGGTCCGCTCCAGCAGCA	0.662													C|||	702	0.140176	0.0068	0.2709	5008	,	,		14642	0.375		0.0437	False		,,,				2504	0.0849				p.E41E		Atlas-SNP	.											.	.	.	.	0			c.G123A						PASS	.	C	,	53,3827		1,51,1888	10	13	12		123,123	4.3	1	17	dbSNP_129	12	332,7902		8,316,3793	no	coding-synonymous,coding-synonymous	HES7	NM_001165967.1,NM_032580.3	,	9,367,5681	TT,TC,CC		4.0321,1.366,3.1781	,	41/231,41/226	8026364	385,11729	1940	4117	6057	SO:0001819	synonymous_variant	84667	exon2			GGTCCGCTCCAGC	AB049064	CCDS42258.1, CCDS54085.1	17p13.1	2013-10-17	2013-10-17			ENSG00000179111		"Basic helix-loop-helix proteins"	15977	protein-coding gene	gene with protein product	"bHLH factor Hes7"	608059	"hairy and enhancer of split 7 (Drosophila)"			11260262	Standard	NM_032580		Approved	bHLHb37	uc002gkb.2	Q9BYE0		ENST00000317814.4:c.123G>A	17.37:g.8026364C>T		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	216	114	0.527778	NM_001165967	F8VPC9	Silent	SNP	ENST00000317814.4	37	CCDS42258.1																																																																																			C|0.854;T|0.146	0.146	strong		0.662	HES7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441479.1	NM_032580		T	8026364	C	T	8026364	2	4	23	1	0	0	0	0	0	0	0	1	7071	796	28	2		2	HES7	17	8026364	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	26407	8026364	73168846	3841	20297										
C17orf68	80169	hgsc.bcm.edu	37	chr17	8135446	8135446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtggggtccctctgggccGgtgggatctgtctgaggtgt	19	8	3	1	rs3027235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8135446G>A	ENST00000315684.8	-	13	2167	c.2160C>T	c.(2158-2160)acC>acT	p.T720T		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	720					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCTCTGGGCCGGTGGGATCTG	0.577													G|||	217	0.0433307	0.087	0.1009	5008	,	,		17092	0.0099		0.0139	False		,,,				2504	0.0082				p.T720T		Atlas-SNP	.											.	CTC1	75	.	0			c.C2160T						PASS	.	G		260,3684		9,242,1721	21	22	22		2160	2.3	0	17	dbSNP_102	22	124,8160		3,118,4021	no	coding-synonymous	CTC1	NM_025099.5		12,360,5742	AA,AG,GG		1.4969,6.5923,3.1403		720/1218	8135446	384,11844	1972	4142	6114	SO:0001819	synonymous_variant	80169	exon13			TGGGCCGGTGGGA	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2160C>T	17.37:g.8135446G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	73	28	0.383562	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																			G|0.964;A|0.036	0.036	strong		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8135446	G	A	8135446	2	1	23	1	0	0	0	0	0	0	0	1	1876	1103	39	1		1	C17orf68	17	8135446	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	109082	8135446	73059764	3842	20298										
ODF4	146852	hgsc.bcm.edu	37	chr17	8243598	8243598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaatcacacacagcttcCgctggatggcccaggtgttg	13	11	1	1	rs73250854	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8243598C>T	ENST00000328248.2	+	1	417	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	ODF4_ENST00000584943.1_Intron|RP11-849F2.4_ENST00000585275.1_lincRNA	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	77					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						ACACAGCTTCCGCTGGATGGC	0.567													C|||	492	0.0982428	0.1694	0.098	5008	,	,		18973	0.0139		0.1024	False		,,,				2504	0.0849				p.R77C		Atlas-SNP	.											ODF4,colon,carcinoma,0,1	ODF4	23	1	0			c.C229T						PASS	.	C	CYS/ARG	627,3779	273.1+/-271.2	48,531,1624	71	63	66		229	2.8	0	17	dbSNP_130	66	961,7639	210.0+/-251.0	51,859,3390	yes	missense	ODF4	NM_153007.4	180	99,1390,5014	TT,TC,CC		11.1744,14.2306,12.2097	probably-damaging	77/258	8243598	1588,11418	2203	4300	6503	SO:0001583	missense	146852	exon1			AGCTTCCGCTGGA	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.229C>T	17.37:g.8243598C>T	ENSP00000331086:p.Arg77Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	120	65	0.541667	NM_153007	Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	CCDS11140.1	208	0.09523809523809523	85	0.17276422764227642	35	0.09668508287292818	9	0.015734265734265736	79	0.10422163588390501	C	12.36	1.916018	0.33815	0.142306	0.111744	ENSG00000184650	ENST00000328248	T	0.41758	0.99	4.89	2.84	0.33178	.	0.778936	0.11350	N	0.573108	T	0.00178	0.0005	L	0.42245	1.32	0.58432	P	1.0000000000287557E-6	D	0.69078	0.997	P	0.58130	0.833	T	0.06481	-1.0824	9	0.87932	D	0	-6.3939	5.6501	0.17612	0.1938:0.7066:0.0:0.0996	.	77	Q2M2E3	ODFP4_HUMAN	C	77	ENSP00000331086:R77C	ENSP00000331086:R77C	R	+	1	0	ODF4	8184323	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.702000	0.25631	0.615000	0.30124	0.655000	0.94253	CGC	C|0.881;T|0.119	0.119	strong		0.567	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			T	8243598	C	T	8243598	3	4	23	1	0	0	0	0	1	0	0	0	10833	652	23	1	231	1	ODF4	17	8243598	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	108152	8243598	72951612	3843	20299										
MYH10	4628	hgsc.bcm.edu	37	chr17	8381675	8381675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgctctttatactggtccGcgtgtcgacgctcatcctca	8	15	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8381675G>A	ENST00000269243.4	-	39	5732	c.5594C>T	c.(5593-5595)gCg>gTg	p.A1865V	MYH10_ENST00000379980.4_Missense_Mutation_p.A1881V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1896V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1886V|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1865					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATACTGGTCCGCGTGTCGACG	0.542																																					p.A1896V		Atlas-SNP	.											MYH10,colon,carcinoma,+1,2	MYH10	148	2	0			c.C5687T						scavenged	.						143	115	125					17																	8381675		2203	4300	6503	SO:0001583	missense	4628	exon41			TGGTCCGCGTGTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5594C>T	17.37:g.8381675G>A	ENSP00000269243:p.Ala1865Val	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	122	2	0.0163934	NM_001256012	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055529	0.36277	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.78	4.78	0.61160	Myosin tail (1);	0.053927	0.64402	D	0.000001	T	0.71617	0.3361	L	0.56124	1.755	0.58432	D	0.999998	B;B;B	0.31599	0.112;0.33;0.112	B;B;B	0.32465	0.146;0.139;0.146	T	0.68157	-0.5483	10	0.02654	T	1	.	18.3727	0.90412	0.0:0.0:1.0:0.0	.	1874;1896;1865	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1865;1896;1886;1881	ENSP00000269243:A1865V;ENSP00000353590:A1896V;ENSP00000379539:A1886V;ENSP00000369315:A1881V	ENSP00000269243:A1865V	A	-	2	0	MYH10	8322400	1.000000	0.71417	0.203000	0.23512	0.081000	0.17604	6.398000	0.73244	2.657000	0.90304	0.655000	0.94253	GCG	.	.	none		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			A	8381675	G	A	8381675	3	1	23	1	0	0	0	0	1	0	0	0	10030	1087	38	1	348	1	MYH10	17	8381675	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	138077	8381675	72813535	3844	20300										
MYH10	4628	hgsc.bcm.edu	37	chr17	8396176	8396176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaccgtgaggtcgtccagcTcctgctgcaggcggttcttg	13	14	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8396176T>C	ENST00000269243.4	-	31	4421	c.4283A>G	c.(4282-4284)gAg>gGg	p.E1428G	MYH10_ENST00000379980.4_Missense_Mutation_p.E1444G|MYH10_ENST00000396239.1_Missense_Mutation_p.E1449G|MYH10_ENST00000360416.3_Missense_Mutation_p.E1459G	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1428					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCGTCCAGCTCCTGCTGCAG	0.607																																					p.E1459G		Atlas-SNP	.											.	MYH10	148	.	0			c.A4376G						PASS	.						80	71	74					17																	8396176		2203	4300	6503	SO:0001583	missense	4628	exon33			TCCAGCTCCTGCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4283A>G	17.37:g.8396176T>C	ENSP00000269243:p.Glu1428Gly	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_001256012	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	31	5.091155	0.94149	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96370	0.9273	10	0.87932	D	0	.	15.4317	0.75105	0.0:0.0:0.0:1.0	.	1437;1459;1428	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	G	1428;1459;1449;1444	ENSP00000269243:E1428G;ENSP00000353590:E1459G;ENSP00000379539:E1449G;ENSP00000369315:E1444G	ENSP00000269243:E1428G	E	-	2	0	MYH10	8336901	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.825000	0.86693	2.224000	0.72417	0.528000	0.53228	GAG	.	.	none		0.607	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			C	8396176	T	C	8396176	3	2	23	1	0	0	0	0	1	0	0	0	10030	1551	54	3	1691	3	MYH10	17	8396176	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14501	8396176	72799034	3845	20301										
PIK3R5	23533	hgsc.bcm.edu	37	chr17	8792003	8792003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcgcgagagggccggcccCgaggcctgggaggatgcaag	20	11	0	1	rs9915880	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8792003C>T	ENST00000447110.1	-	10	1225	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	PIK3R5_ENST00000584803.1_Silent_p.S367S|PIK3R5_ENST00000581552.1_Silent_p.S367S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	367				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCCGGCCCCGAGGCCTGGG	0.627													c|||	1017	0.203075	0.2995	0.2853	5008	,	,		18342	0.001		0.2833	False		,,,				2504	0.1401				p.S367S	NSCLC(18;589 615 7696 20311 50332)	Atlas-SNP	.											.	PIK3R5	79	.	0			c.G1101A						PASS	.	C	,	1297,3109	432.8+/-343.4	203,891,1109	72	75	74		1101,1101	-9	0.1	17	dbSNP_119	74	2686,5914	427.5+/-355.6	414,1858,2028	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	617,2749,3137	TT,TC,CC		31.2326,29.4371,30.6243	,	367/881,367/881	8792003	3983,9023	2203	4300	6503	SO:0001819	synonymous_variant	23533	exon10			CGGCCCCGAGGCC	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1101G>A	17.37:g.8792003C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	66	66	1	NM_001142633	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																			C|0.736;T|0.264	0.264	strong		0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		T	8792003	C	T	8792003	2	4	23	1	0	0	0	0	0	0	0	1	11922	639	23	1		1	PIK3R5	17	8792003	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	395827	8792003	72403207	3846	20302										
PIK3R5	23533	hgsc.bcm.edu	37	chr17	8792093	8792093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctctcggcacagtgcccGtcagtttccaagtcctcctc	7	17	3	0	rs16957702	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8792093G>A	ENST00000447110.1	-	10	1135	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	PIK3R5_ENST00000584803.1_Silent_p.D337D|PIK3R5_ENST00000581552.1_Silent_p.D337D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	337				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CACAGTGCCCGTCAGTTTCCA	0.612													G|||	1017	0.203075	0.2995	0.2839	5008	,	,		18474	0.001		0.2843	False		,,,				2504	0.1401				p.D337D	NSCLC(18;589 615 7696 20311 50332)	Atlas-SNP	.											.	PIK3R5	79	.	0			c.C1011T						PASS	.	G	,	1302,3104	437.8+/-345.1	204,894,1105	106	102	103		1011,1011	-10.5	0	17	dbSNP_123	103	2694,5906	430.6+/-356.6	418,1858,2024	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	622,2752,3129	AA,AG,GG		31.3256,29.5506,30.7243	,	337/881,337/881	8792093	3996,9010	2203	4300	6503	SO:0001819	synonymous_variant	23533	exon10			GTGCCCGTCAGTT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1011C>T	17.37:g.8792093G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	38	37	0.973684	NM_001142633	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																			G|0.734;A|0.266	0.266	strong		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8792093	G	A	8792093	2	1	23	1	0	0	0	0	0	0	0	1	11922	1136	40	1		1	PIK3R5	17	8792093	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	90	8792093	72403117	3847	20303										
PIK3R5	23533	hgsc.bcm.edu	37	chr17	8792171	8792171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaggatccctggctggagTagctcctgttccttgagcag	12	13	0	1	rs11650737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:8792171T>C	ENST00000447110.1	-	10	1057	c.933A>G	c.(931-933)ctA>ctG	p.L311L	PIK3R5_ENST00000584803.1_Silent_p.L311L|PIK3R5_ENST00000581552.1_Silent_p.L311L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	311				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCTGGAGTAGCTCCTGTT	0.582													C|||	1017	0.203075	0.2995	0.2839	5008	,	,		20122	0.001		0.2843	False		,,,				2504	0.1401				p.L311L	NSCLC(18;589 615 7696 20311 50332)	Atlas-SNP	.											PIK3R5,NS,carcinoma,0,1	PIK3R5	79	1	2	Substitution - coding silent(2)	prostate(2)	c.A933G						scavenged	.	C	,	1302,3104	692.1+/-405.5	204,894,1105	51	56	54		933,933	3.7	1	17	dbSNP_120	54	2695,5905	681.3+/-403.7	418,1859,2023	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	622,2753,3128	CC,CT,TT		31.3372,29.5506,30.732	,	311/881,311/881	8792171	3997,9009	2203	4300	6503	SO:0001819	synonymous_variant	23533	exon10			CTGGAGTAGCTCC	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.933A>G	17.37:g.8792171T>C		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_001142633	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																			T|0.722;C|0.278	0.278	strong		0.582	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		C	8792171	T	C	8792171	2	2	23	1	0	0	0	0	0	0	0	1	11922	1625	57	2		2	PIK3R5	17	8792171	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	78	8792171	72403039	3848	20304										
WDR16	146845	hgsc.bcm.edu	37	chr17	9515777	9515777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtcactttgatgctgtcGaggatattgtctttccattg	9	8	2	1	rs6503235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:9515777G>A	ENST00000352665.5	+	8	1075	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	WDR16_ENST00000396219.3_Missense_Mutation_p.E268K|WDR16_ENST00000299764.5_Missense_Mutation_p.E346K	NM_145054.4	NP_659491.4			WD repeat domain 16									p.E336K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGATGCTGTCGAGGATATTGT	0.398													G|||	3003	0.599641	0.3116	0.7594	5008	,	,		20591	0.5714		0.7594	False		,,,				2504	0.7403				p.E336K		Atlas-SNP	.											WDR16,NS,carcinoma,0,1	WDR16	67	1	1	Substitution - Missense(1)	stomach(1)	c.G1006A						scavenged	.	G	LYS/GLU,LYS/GLU	1798,2608	529.3+/-372.6	361,1076,766	120	102	108		802,1006	0.8	0.2	17	dbSNP_116	108	6500,2100	717.8+/-406.2	2463,1574,263	yes	missense,missense	WDR16	NM_001080556.1,NM_145054.4	56,56	2824,2650,1029	AA,AG,GG		24.4186,40.808,36.1987	benign,benign	268/553,336/621	9515777	8298,4708	2203	4300	6503	SO:0001583	missense	146845	exon8			GCTGTCGAGGATA	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1006G>A	17.37:g.9515777G>A	ENSP00000339449:p.Glu336Lys	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	53	53	1	NM_145054		Missense_Mutation	SNP	ENST00000352665.5	37	CCDS11149.2	1326	0.6071428571428571	167	0.3394308943089431	263	0.7265193370165746	318	0.5559440559440559	578	0.762532981530343	G	6.556	0.470932	0.12461	0.40808	0.755814	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.90069	2.58;-2.61;5.07	5.53	0.828	0.18841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.453160	0.26765	N	0.022601	T	0.00012	0.0000	N	0.00707	-1.245	0.58432	P	9.000000000036756E-6	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.47086	-0.9144	9	0.08837	T	0.75	-6.3495	13.1025	0.59228	0.1055:0.3838:0.5107:0.0	rs6503235;rs17207234;rs17852263;rs52807676;rs60055865;rs6503235	346;268;336	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	K	336;268;346	ENSP00000339449:E336K;ENSP00000379521:E268K;ENSP00000299764:E346K	ENSP00000299764:E346K	E	+	1	0	WDR16	9456502	0.598000	0.26882	0.154000	0.22540	0.119000	0.20118	0.842000	0.27627	-0.055000	0.13244	-0.312000	0.09012	GAG	G|0.383;A|0.617	0.617	strong		0.398	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		A	9515777	G	A	9515777	3	1	23	1	0	0	0	0	1	0	0	0	17273	1059	37	1	1036	1	WDR16	17	9515777	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	723606	9515777	71679433	3849	20305										
USP43	124739	hgsc.bcm.edu	37	chr17	9580092	9580092	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcaccttggtcttcccctCtaagagccagcggttcctgc	9	15	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:9580092C>G	ENST00000285199.7	+	5	959	c.863C>G	c.(862-864)tCt>tGt	p.S288C	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.S288C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	288	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCTTCCCCTCTAAGAGCCAG	0.542																																					p.S288C		Atlas-SNP	.											.	USP43	65	.	0			c.C863G						PASS	.						91	93	93					17																	9580092		2015	4165	6180	SO:0001583	missense	124739	exon5			TCCCCTCTAAGAG	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.863C>G	17.37:g.9580092C>G	ENSP00000285199:p.Ser288Cys	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	256	28	0.109375	NM_001267576	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041149	0.35989	.	.	ENSG00000154914	ENST00000285199	T	0.10099	2.91	4.62	2.55	0.30701	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.387701	0.24601	N	0.037138	T	0.12475	0.0303	L	0.50847	1.595	0.09310	N	0.999998	B;B	0.12630	0.001;0.006	B;B	0.23852	0.01;0.049	T	0.18999	-1.0319	10	0.52906	T	0.07	-3.9205	12.7709	0.57421	0.0:0.7264:0.2736:0.0	.	288;288	B7ZVX5;Q70EL4	.;UBP43_HUMAN	C	288	ENSP00000285199:S288C	ENSP00000285199:S288C	S	+	2	0	USP43	9520817	0.587000	0.26791	0.707000	0.30419	0.997000	0.91878	2.000000	0.40816	0.537000	0.28751	0.555000	0.69702	TCT	.	.	none		0.542	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		G	9580092	C	G	9580092	3	3	23	1	0	0	0	0	1	0	0	0	17071	913	32	4	881	4	USP43	17	9580092	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	64315	9580092	71615118	3850	20306										
MYH13	8735	hgsc.bcm.edu	37	chr17	10219113	10219113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagactccttctcttccactCggtggctcagctcccctacc	7	18	2	1	rs17690195	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:10219113C>T	ENST00000418404.3	-	28	4044	c.3881G>A	c.(3880-3882)cGa>cAa	p.R1294Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1294Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1294			R -> Q (in dbSNP:rs17690195).		cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTCCACTCGGTGGCTCAG	0.577													C|||	717	0.143171	0.0492	0.1513	5008	,	,		18444	0.1567		0.166	False		,,,				2504	0.227				p.R1294Q		Atlas-SNP	.											.	MYH13	533	.	0			c.G3881A						PASS	.	C	GLN/ARG	236,3744		7,222,1761	100	99	99		3881	3	1	17	dbSNP_123	99	1276,7066		91,1094,2986	yes	missense	MYH13	NM_003802.2	43	98,1316,4747	TT,TC,CC		15.2961,5.9296,12.2707	benign	1294/1939	10219113	1512,10810	1990	4171	6161	SO:0001583	missense	8735	exon29			TCCACTCGGTGGC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3881G>A	17.37:g.10219113C>T	ENSP00000404570:p.Arg1294Gln	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	176	87	0.494318	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	294	0.1346153846153846	25	0.0508130081300813	59	0.16298342541436464	96	0.16783216783216784	114	0.1503957783641161	C	3.961	-0.010351	0.07727	0.059296	0.152961	ENSG00000006788	ENST00000252172	T	0.74947	-0.89	4.1	3.02	0.34903	Myosin tail (1);	.	.	.	.	T	0.00109	0.0003	N	0.00599	-1.345	0.45342	P	0.0016690000000000316	B	0.02656	0.0	B	0.04013	0.001	T	0.09143	-1.0688	8	0.02654	T	1	.	9.3419	0.38085	0.0:0.0864:0.0:0.9136	rs17690195;rs52795546;rs56637558;rs17690195	1294	Q9UKX3	MYH13_HUMAN	Q	1294	ENSP00000252172:R1294Q	ENSP00000252172:R1294Q	R	-	2	0	MYH13	10159838	1.000000	0.71417	0.999000	0.59377	0.800000	0.45204	4.757000	0.62213	0.634000	0.30469	-0.517000	0.04412	CGA	C|0.857;T|0.143	0.143	strong		0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10219113	C	T	10219113	3	4	23	1	0	0	0	0	1	0	0	0	10032	884	31	1	1987	1	MYH13	17	10219113	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	639021	10219113	70976097	3851	20307										
MYH13	8735	hgsc.bcm.edu	37	chr17	10236465	10236465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggatgccctcgaggaccccGttacagcgcagctggtgcat	13	14	0	0	rs2240579	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:10236465G>A	ENST00000418404.3	-	18	2263	c.2100C>T	c.(2098-2100)aaC>aaT	p.N700N	MYH13_ENST00000252172.4_Silent_p.N700N|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	700	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGAGGACCCCGTTACAGCGCA	0.572													G|||	2146	0.428514	0.2292	0.5836	5008	,	,		19498	0.3968		0.6362	False		,,,				2504	0.407				p.N700N		Atlas-SNP	.											MYH13_ENST00000252172,NS,carcinoma,0,2	MYH13	533	2	0			c.C2100T						PASS	.	G		1315,2543		249,817,863	28	34	32		2100	-1.6	1	17	dbSNP_98	32	5181,2643		1796,1589,527	no	coding-synonymous	MYH13	NM_003802.2		2045,2406,1390	AA,AG,GG		33.7807,34.085,44.3931		700/1939	10236465	6496,5186	1929	3912	5841	SO:0001819	synonymous_variant	8735	exon19			GACCCCGTTACAG	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2100C>T	17.37:g.10236465G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	49	49	1	NM_003802	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																			G|0.544;A|0.455	0.455	strong		0.572	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10236465	G	A	10236465	2	1	23	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10236465	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17352	10236465	70958745	3852	20308										
MYH1	4619	hgsc.bcm.edu	37	chr17	10409241	10409241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggacaagctcatgctccaTggcacctaaaagaatgaatc	8	11	1	2	rs73974725	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:10409241T>C	ENST00000226207.5	-	19	2156	c.2062A>G	c.(2062-2064)Atg>Gtg	p.M688V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	688	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATGCTCCATGGCACCTAAA	0.478													T|||	74	0.0147764	0.0129	0.0086	5008	,	,		16370	0.0		0.0348	False		,,,				2504	0.0164				p.M688V		Atlas-SNP	.											.	MYH1	403	.	0			c.A2062G						PASS	.	T	VAL/MET	88,4318	73.1+/-111.1	2,84,2117	126	107	113		2062	5.5	1	17	dbSNP_130	113	286,8314	107.2+/-168.0	3,280,4017	yes	missense	MYH1	NM_005963.3	21	5,364,6134	CC,CT,TT		3.3256,1.9973,2.8756	probably-damaging	688/1940	10409241	374,12632	2203	4300	6503	SO:0001583	missense	4619	exon19			GCTCCATGGCACC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2062A>G	17.37:g.10409241T>C	ENSP00000226207:p.Met688Val	Somatic	410	1	0.00243902		WXS	Illumina HiSeq	Phase_I	389	204	0.524422	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	31	0.014194139194139194	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	26	0.03430079155672823	T	15.92	2.976426	0.53720	0.019973	0.033256	ENSG00000109061	ENST00000226207	T	0.71222	-0.55	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.52532	U	0.000072	T	0.42743	0.1216	L	0.46670	1.46	0.58432	D	0.999993	B	0.09022	0.002	B	0.22880	0.042	T	0.55289	-0.8164	10	0.39692	T	0.17	.	15.8518	0.78937	0.0:0.0:0.0:1.0	.	688	P12882	MYH1_HUMAN	V	688	ENSP00000226207:M688V	ENSP00000226207:M688V	M	-	1	0	MYH1	10349966	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.825000	0.86693	2.216000	0.71823	0.528000	0.53228	ATG	T|0.975;C|0.025	0.025	strong		0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10409241	T	C	10409241	3	2	23	1	0	0	0	0	1	0	0	0	10029	1464	51	2	3845	2	MYH1	17	10409241	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	172776	10409241	70785969	3853	20309										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11651057	11651057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagctctttggcatcatcaAtccagccacaggagaatgga	10	10	3	2	rs3744581	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:11651057A>G	ENST00000262442.4	+	32	6652	c.6584A>G	c.(6583-6585)aAt>aGt	p.N2195S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N2195S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2195	AAA 2. {ECO:0000250}.		N -> S (in dbSNP:rs3744581).		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCATCATCAATCCAGCCACA	0.527													A|||	1125	0.224641	0.1543	0.2349	5008	,	,		17290	0.3294		0.2356	False		,,,				2504	0.1933				p.N2195S		Atlas-SNP	.											DNAH9,colon,carcinoma,0,1	DNAH9	695	1	0			c.A6584G	GRCh37	CM065137	DNAH9	M	rs3744581	scavenged	.	A	SER/ASN	712,3694	296.4+/-284.2	58,596,1549	58	55	56		6584	3.3	1	17	dbSNP_107	56	2099,6501	360.3+/-331.9	250,1599,2451	yes	missense	DNAH9	NM_001372.3	46	308,2195,4000	GG,GA,AA		24.407,16.1598,21.6131	possibly-damaging	2195/4487	11651057	2811,10195	2203	4300	6503	SO:0001583	missense	1770	exon32			TCATCAATCCAGC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6584A>G	17.37:g.11651057A>G	ENSP00000262442:p.Asn2195Ser	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	98	42	0.428571	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	512	0.23443223443223443	73	0.1483739837398374	71	0.19613259668508287	193	0.3374125874125874	175	0.23087071240105542	A	19.41	3.822547	0.71028	0.161598	0.24407	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.87650	-2.28;-2.28	4.36	3.29	0.37713	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.194965	0.42682	D	0.000662	T	0.00012	0.0000	M	0.82056	2.57	0.09310	P	1.0	P	0.46220	0.874	P	0.53760	0.734	T	0.00000	-1.2947	9	0.51188	T	0.08	.	9.7558	0.40502	0.918:0.0:0.082:0.0	rs3744581;rs58949980;rs3744581	2195	Q9NYC9	DYH9_HUMAN	S	2195;2195;777	ENSP00000262442:N2195S;ENSP00000414874:N2195S	ENSP00000262442:N2195S	N	+	2	0	DNAH9	11591782	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.249000	0.78278	0.722000	0.32252	0.455000	0.32223	AAT	A|0.779;G|0.221	0.221	strong		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11651057	A	G	11651057	3	3	23	1	0	0	0	0	1	0	0	0	4608	101	4	2	6710	2	DNAH9	17	11651057	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1241816	11651057	69544153	3854	20310										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11757556	11757556	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggccgtatctgcaagacccCgagttcaatcctgagtttgt	10	11	2	2	rs12449553	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:11757556C>G	ENST00000262442.4	+	50	9812	c.9744C>G	c.(9742-9744)ccC>ccG	p.P3248P	DNAH9_ENST00000454412.2_Silent_p.P3248P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P3248P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCAAGACCCCGAGTTCAATC	0.488													C|||	2021	0.403554	0.3336	0.5893	5008	,	,		19390	0.3403		0.4245	False		,,,				2504	0.41				p.P3248P		Atlas-SNP	.											DNAH9,NS,carcinoma,0,1	DNAH9	695	1	1	Substitution - coding silent(1)	stomach(1)	c.C9744G						PASS	.	C		1483,2923	474.6+/-357.0	250,983,970	150	139	143		9744	-11.1	0	17	dbSNP_120	143	3668,4932	525.7+/-380.8	801,2066,1433	no	coding-synonymous	DNAH9	NM_001372.3		1051,3049,2403	GG,GC,CC		42.6512,33.6586,39.6048		3248/4487	11757556	5151,7855	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon50			AGACCCCGAGTTC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9744C>G	17.37:g.11757556C>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	153	153	1	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.605;G|0.395	0.395	strong		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11757556	C	G	11757556	2	3	23	1	0	0	0	0	0	0	0	1	4608	639	23	4		4	DNAH9	17	11757556	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	106499	11757556	69437654	3855	20311										
COX10	1352	hgsc.bcm.edu	37	chr17	14005439	14005439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtttctgtatcgcagctctGgttgtaagtaccactgcagc	10	10	2	0	rs2159132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:14005439G>A	ENST00000261643.3	+	4	581	c.504G>A	c.(502-504)ctG>ctA	p.L168L	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	168					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCGCAGCTCTGGTTGTAAGTA	0.493													A|||	2463	0.491813	0.5053	0.4813	5008	,	,		15872	0.3462		0.5855	False		,,,				2504	0.5348				p.L168L		Atlas-SNP	.											.	COX10	36	.	0			c.G504A						PASS	.	A		2250,2156	583.9+/-385.9	553,1144,506	158	133	142		504	-10.5	0	17	dbSNP_96	142	4975,3625	523.5+/-380.3	1422,2131,747	yes	coding-synonymous	COX10	NM_001303.3		1975,3275,1253	AA,AG,GG		42.1512,48.9333,44.4487		168/444	14005439	7225,5781	2203	4300	6503	SO:0001819	synonymous_variant	1352	exon4			AGCTCTGGTTGTA	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.504G>A	17.37:g.14005439G>A		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	39	0.336207	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	CCDS11166.1																																																																																			G|0.468;A|0.532	0.532	strong		0.493	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14005439	G	A	14005439	2	1	23	1	0	0	0	0	0	0	0	1	3762	1335	47	2		2	COX10	17	14005439	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2247883	14005439	67189771	3856	20312										
TEKT3	64518	hgsc.bcm.edu	37	chr17	15215660	15215660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaagttcactttgttgaaTtgattccacatctcattggc	7	9	2	2	rs2286516	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:15215660T>C	ENST00000395930.1	-	7	1203	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	TEKT3_ENST00000338696.2_Silent_p.Q339Q|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	339					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTTGTTGAATTGATTCCACA	0.448													T|||	1174	0.234425	0.1445	0.2896	5008	,	,		21481	0.252		0.2793	False		,,,				2504	0.2526				p.Q339Q		Atlas-SNP	.											.	TEKT3	64	.	0			c.A1017G						PASS	.	T		744,3662	306.0+/-289.3	64,616,1523	130	113	118		1017	2.2	1	17	dbSNP_100	118	2224,6376	377.6+/-338.6	274,1676,2350	no	coding-synonymous	TEKT3	NM_031898.2		338,2292,3873	CC,CT,TT		25.8605,16.8861,22.8202		339/491	15215660	2968,10038	2203	4300	6503	SO:0001819	synonymous_variant	64518	exon7			GTTGAATTGATTC	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1017A>G	17.37:g.15215660T>C		Somatic	233	1	0.00429185		WXS	Illumina HiSeq	Phase_I	225	97	0.431111	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	CCDS11169.1																																																																																			T|0.770;C|0.230	0.230	strong		0.448	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		C	15215660	T	C	15215660	2	2	23	1	0	0	0	0	0	0	0	1	15751	1490	52	2		2	TEKT3	17	15215660	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1210221	15215660	65979550	3857	20313										
CDRT1	374286	hgsc.bcm.edu	37	chr17	15519029	15519029	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggaagggatgtgtgctgAgttttggctgtccaatagac	14	5	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:15519029A>C	ENST00000395906.3	-	2	599	c.600T>G	c.(598-600)acT>acG	p.T200T	RP11-385D13.1_ENST00000455584.2_Silent_p.T510T	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	200										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATGTGTGCTGAGTTTTGGCTG	0.468																																					p.T200T		Atlas-SNP	.											.	CDRT1	83	.	0			c.T600G						PASS	.						58	62	61					17																	15519029		2202	4297	6499	SO:0001819	synonymous_variant	374286	exon2			GTGCTGAGTTTTG	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.600T>G	17.37:g.15519029A>C		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	272	32	0.117647	NM_006382	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	A	3.489	-0.104310	0.06967	.	.	ENSG00000251537	ENST00000455584	.	.	.	3.68	2.66	0.31614	.	.	.	.	.	T	0.27349	0.0671	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.18085	-1.0348	4	.	.	.	.	5.4733	0.16682	0.1721:0.0:0.8279:0.0	.	.	.	.	R	525	.	.	L	-	2	0	RP11-385D13.1	15459754	0.007000	0.16637	0.004000	0.12327	0.024000	0.10985	1.274000	0.33132	1.021000	0.39600	0.454000	0.30748	CTC	.	.	none		0.468	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		C	15519029	A	C	15519029	2	2	23	1	0	0	0	0	0	0	0	1	3174	291	11	5		5	CDRT1	17	15519029	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	303369	15519029	65676181	3858	20314										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15604485	15604485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctctgtcttcccaggattcTccccatttccaagagaagag	8	13	3	2	rs78494624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:15604485T>C	ENST00000464847.2	+	2	610	c.57T>C	c.(55-57)tcT>tcC	p.S19S	ZNF286A_ENST00000421016.1_Silent_p.S19S|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000472486.1_Silent_p.S9S|ZNF286A_ENST00000395894.2_Silent_p.S19S|ZNF286A_ENST00000395893.2_Silent_p.S19S|ZNF286A_ENST00000585194.1_Silent_p.S19S|ZNF286A_ENST00000581529.1_Silent_p.S9S|ZNF286A_ENST00000583566.1_Silent_p.S19S|ZNF286A_ENST00000593105.1_Silent_p.S9S|ZNF286A_ENST00000413242.2_Silent_p.S19S|ZNF286A_ENST00000580259.1_Silent_p.S19S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S19S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CCCAGGATTCTCCCCATTTCC	0.473																																					p.S19S		Atlas-SNP	.											ZNF286A,NS,carcinoma,0,1	ZNF286A	58	1	1	Substitution - coding silent(1)	pancreas(1)	c.T57C						PASS	.						275	242	253					17																	15604485		2203	4300	6503	SO:0001819	synonymous_variant	57335	exon3			GGATTCTCCCCAT	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.57T>C	17.37:g.15604485T>C		Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	317	74	0.233438	NM_020652	B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	CCDS11172.1																																																																																			T|0.895;C|0.105	0.105	strong		0.473	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		C	15604485	T	C	15604485	2	2	23	1	0	0	0	0	0	0	0	1	17820	1538	54	3		3	ZNF286A	17	15604485	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	85456	15604485	65590725	3859	20315										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15620481	15620481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcattcattcatcagctctCattcaacatcagagaactca	3	12	8	1	rs2530064	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:15620481C>T	ENST00000464847.2	+	5	1996	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	ZNF286A_ENST00000421016.1_Silent_p.L481L|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Silent_p.L481L|ZNF286A_ENST00000593105.1_Silent_p.L471L|ZNF286A_ENST00000413242.2_Silent_p.L481L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L481L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CATCAGCTCTCATTCAACATC	0.403													T|||	1613	0.322085	0.3215	0.3473	5008	,	,		18041	0.25		0.327	False		,,,				2504	0.3742				p.L481L		Atlas-SNP	.											ZNF286A,NS,carcinoma,0,1	ZNF286A	58	1	1	Substitution - coding silent(1)	stomach(1)	c.C1443T						PASS	.						57	60	59					17																	15620481		2200	4294	6494	SO:0001819	synonymous_variant	57335	exon6			AGCTCTCATTCAA	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1443C>T	17.37:g.15620481C>T		Somatic	359	0	0		WXS	Illumina HiSeq	Phase_I	144	141	0.979167	NM_020652	B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	CCDS11172.1																																																																																			C|0.250;T|0.750	0.750	weak		0.403	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		T	15620481	C	T	15620481	2	4	23	1	0	0	0	0	0	0	0	1	17820	813	29	2		2	ZNF286A	17	15620481	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	15996	15620481	65574729	3860	20316										
TBC1D26	353149	hgsc.bcm.edu	37	chr17	15640806	15640806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgccttacagtgagatggAgctgccccacgtcagtgccc	12	13	1	1	rs200208182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:15640806A>C	ENST00000437605.2	+	5	417	c.167A>C	c.(166-168)gAg>gCg	p.E56A	AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.E56A|ZNF286A_ENST00000593105.1_3'UTR|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	56							Rab GTPase activator activity (GO:0005097)	p.E56A(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGTGAGATGGAGCTGCCCCAC	0.647																																					p.E56A		Atlas-SNP	.											TBC1D26,trunk,malignant_melanoma,0,1	TBC1D26	16	1	1	Substitution - Missense(1)	skin(1)	c.A167C						scavenged	.						35	39	37					17																	15640806		1942	4099	6041	SO:0001583	missense	353149	exon5			AGATGGAGCTGCC		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.167A>C	17.37:g.15640806A>C	ENSP00000410111:p.Glu56Ala	Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	323	20	0.0619195	NM_178571	A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	8.747	0.920269	0.17982	.	.	ENSG00000214946	ENST00000437605	T	0.44881	0.91	0.888	-1.78	0.07957	.	0.321547	0.28187	U	0.016280	T	0.40067	0.1102	M	0.81682	2.555	0.09310	N	1	P;P	0.41710	0.76;0.481	B;B	0.44163	0.443;0.347	T	0.39292	-0.9621	10	0.51188	T	0.08	.	1.5879	0.02648	0.3144:0.2682:0.0:0.4174	.	56;56	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	A	56	ENSP00000410111:E56A	ENSP00000410111:E56A	E	+	2	0	TBC1D26	15581531	0.176000	0.23096	0.000000	0.03702	0.001000	0.01503	0.354000	0.20146	-1.189000	0.02702	-0.811000	0.03165	GAG	A|0.500;C|0.500	0.500	strong		0.647	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		C	15640806	A	C	15640806	3	2	23	1	0	0	0	0	1	0	0	0	15613	304	11	5	177	5	TBC1D26	17	15640806	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	20325	15640806	65554404	3861	20317										
NCOR1	9611	hgsc.bcm.edu	37	chr17	16068463	16068463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagcttcatgtttgcctcCgaatgctggatcctttagag	11	9	1	1	rs74453660		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:16068463C>T	ENST00000268712.3	-	5	705	c.448G>A	c.(448-450)Gga>Aga	p.G150R	NCOR1_ENST00000395848.1_Missense_Mutation_p.G41R|NCOR1_ENST00000395851.1_Missense_Mutation_p.G150R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	150	Interaction with ZBTB33 and HEXIM1.				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)	p.G150R(2)		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)		TGTTTGCCTCCGAATGCTGGA	0.373																																					p.G150R		Atlas-SNP	.											NCOR1,NS,carcinoma,0,2	NCOR1	240	2	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)	c.G448A						PASS	.						108	100	103					17																	16068463		2203	4300	6503	SO:0001583	missense	9611	exon4			TGCCTCCGAATGC	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.448G>A	17.37:g.16068463C>T	ENSP00000268712:p.Gly150Arg	Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	488	66	0.135246	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536088	0.27475	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T	0.44083	0.93;1.51;0.98	5.04	5.04	0.67666	.	0.436377	0.26792	N	0.022465	T	0.49490	0.1560	L	0.40543	1.245	0.80722	D	1	P;P;D;P;D;D;D	0.69078	0.569;0.702;0.957;0.702;0.997;0.994;0.964	B;B;P;B;P;P;P	0.58928	0.071;0.071;0.487;0.071;0.848;0.685;0.591	T	0.42716	-0.9435	10	0.41790	T	0.15	-8.2798	13.2054	0.59793	0.0:0.8401:0.1599:0.0	.	150;150;150;150;41;150;150	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	R	150;150;41;150;41;150;150	ENSP00000268712:G150R;ENSP00000379192:G150R;ENSP00000379189:G41R	ENSP00000268712:G150R	G	-	1	0	NCOR1	16009188	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.110000	0.41873	2.349000	0.79799	0.478000	0.44815	GGA	.	.	weak		0.373	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	16068463	C	T	16068463	3	4	23	1	0	0	0	0	1	0	0	0	10235	661	23	1	7042	1	NCOR1	17	16068463	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	427657	16068463	65126747	3862	20318										
TRPV2	51393	hgsc.bcm.edu	37	chr17	16325968	16325968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctgaaccttaaggacggAgtcaatgcctgcattctgcc	11	11	2	1	rs8121	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:16325968A>G	ENST00000338560.7	+	4	789	c.390A>G	c.(388-390)ggA>ggG	p.G130G	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	130	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.G130G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAAGGACGGAGTCAATGCCT	0.572													G|||	1960	0.391374	0.6475	0.3818	5008	,	,		18556	0.2321		0.3877	False		,,,				2504	0.2198				p.G130G		Atlas-SNP	.											TRPV2,right_upper_lobe,carcinoma,+1,2	TRPV2	74	2	1	Substitution - coding silent(1)	stomach(1)	c.A390G						scavenged	.	G		2586,1820	532.3+/-373.4	765,1056,382	82	67	72		390	-5.9	0	17	dbSNP_52	72	3364,5236	641.2+/-399.7	648,2068,1584	no	coding-synonymous	TRPV2	NM_016113.4		1413,3124,1966	GG,GA,AA		39.1163,41.3073,45.7481		130/765	16325968	5950,7056	2203	4300	6503	SO:0001819	synonymous_variant	51393	exon4			GGACGGAGTCAAT	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.390A>G	17.37:g.16325968A>G		Somatic	97	1	0.0103093		WXS	Illumina HiSeq	Phase_I	114	56	0.491228	NM_016113	A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	CCDS32576.1	889	0.40705128205128205	301	0.6117886178861789	153	0.42265193370165743	148	0.25874125874125875	287	0.3786279683377309	G	0.717	-0.784796	0.02907	0.586927	0.391163	ENSG00000187688	ENST00000455666	.	.	.	5.24	-5.94	0.02247	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999999865	.	.	.	.	.	.	T	0.46569	-0.9182	3	.	.	.	-7.0661	0.4381	0.00482	0.2267:0.1978:0.2647:0.3108	rs8121;rs1129232;rs3186904;rs60740001;rs8121	.	.	.	G	88	.	.	S	+	1	0	TRPV2	16266693	0.000000	0.05858	0.029000	0.17559	0.089000	0.18198	-1.548000	0.02184	-1.326000	0.02266	-0.812000	0.03155	AGT	A|0.561;G|0.439	0.439	strong		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		G	16325968	A	G	16325968	2	3	23	1	0	0	0	0	0	0	0	1	16593	291	11	3		3	TRPV2	17	16325968	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	257505	16325968	64869242	3863	20319										
TRPV2	51393	hgsc.bcm.edu	37	chr17	16336992	16336992	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actaagccagatggcagcccCgatgagcgctggtgcttcag	13	12	1	2	rs14039	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:16336992C>G	ENST00000338560.7	+	13	2493	c.2094C>G	c.(2092-2094)ccC>ccG	p.P698P	TRPV2_ENST00000577397.1_Silent_p.P268P	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	698					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.P698P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCAGCCCCGATGAGCGCT	0.627													C|||	1443	0.288139	0.3124	0.3401	5008	,	,		20447	0.2232		0.3579	False		,,,				2504	0.2137				p.P698P		Atlas-SNP	.											TRPV2,NS,carcinoma,0,1	TRPV2	74	1	1	Substitution - coding silent(1)	stomach(1)	c.C2094G						scavenged	.	C		1464,2942	469.4+/-355.4	260,944,999	111	97	102		2094	-5.2	0.1	17	dbSNP_52	102	3244,5356	485.9+/-371.7	609,2026,1665	no	coding-synonymous	TRPV2	NM_016113.4		869,2970,2664	GG,GC,CC		37.7209,33.2274,36.1987		698/765	16336992	4708,8298	2203	4300	6503	SO:0001819	synonymous_variant	51393	exon13			CAGCCCCGATGAG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2094C>G	17.37:g.16336992C>G		Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	136	58	0.426471	NM_016113	A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																			T|0.000;G|0.355;C|0.645	0.355	strong		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		G	16336992	C	G	16336992	2	3	23	1	0	0	0	0	0	0	0	1	16593	639	23	4		4	TRPV2	17	16336992	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	11024	16336992	64858218	3864	20320										
DRG2	1819	hgsc.bcm.edu	37	chr17	18003919	18003919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatctcctttaactcgacaGtcacgctgacccagtgctcg	8	15	2	1	rs143296623	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:18003919G>A	ENST00000225729.3	+	7	715	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	DRG2_ENST00000395726.4_Missense_Mutation_p.V193I|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	193	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.V193fs*2(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TAACTCGACAGTCACGCTGAC	0.562													G|||	13	0.00259585	0.0	0.0086	5008	,	,		22449	0.0		0.006	False		,,,				2504	0.001				p.V193I		Atlas-SNP	.											.	DRG2	27	.	1	Deletion - Frameshift(1)	ovary(1)	c.G577A						PASS	.	G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	91	78	82		577	5.3	1	17	dbSNP_134	82	47,8553	30.1+/-81.4	0,47,4253	yes	missense	DRG2	NM_001388.3	29	0,51,6452	AA,AG,GG		0.5465,0.0908,0.3921	benign	193/365	18003919	51,12955	2203	4300	6503	SO:0001583	missense	1819	exon7			TCGACAGTCACGC	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.577G>A	17.37:g.18003919G>A	ENSP00000225729:p.Val193Ile	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	102	51	0.5	NM_001388	B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	CCDS11191.1	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	G	14.49	2.551381	0.45383	9.08E-4	0.005465	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.30182	1.54;1.54	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.66378	2.025	0.80722	D	1	B;B	0.18310	0.027;0.015	B;B	0.12837	0.008;0.008	T	0.16305	-1.0407	10	0.59425	D	0.04	-21.1669	18.9395	0.92600	0.0:0.0:1.0:0.0	.	193;193	A8MZF9;P55039	.;DRG2_HUMAN	I	193	ENSP00000379076:V193I;ENSP00000225729:V193I	ENSP00000225729:V193I	V	+	1	0	DRG2	17944644	1.000000	0.71417	0.952000	0.39060	0.257000	0.26127	7.764000	0.85297	2.484000	0.83849	0.462000	0.41574	GTC	G|0.996;A|0.004	0.004	strong		0.562	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		A	18003919	G	A	18003919	3	1	23	1	0	0	0	0	1	0	0	0	4762	1029	36	2	603	2	DRG2	17	18003919	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1666927	18003919	63191291	3865	20321										
TBC1D28	254272	hgsc.bcm.edu	37	chr17	18542519	18542519	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcactgacgcggggcagcTccatctcactgtaaggcaac	13	13	1	1	rs74452761		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:18542519T>G	ENST00000345096.4	-	5	866	c.167A>C	c.(166-168)gAg>gCg	p.E56A	TBC1D28_ENST00000575570.1_5'Flank|TBC1D28_ENST00000405044.1_Missense_Mutation_p.E56A			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	56				E -> A (in Ref. 1; AAI12013). {ECO:0000305}.			Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GCGGGGCAGCTCCATCTCACT	0.647																																					p.E56A		Atlas-SNP	.											.	TBC1D28	14	.	0			c.A167C						PASS	.						92	101	98					17																	18542519		2192	4297	6489	SO:0001583	missense	254272	exon6			GGCAGCTCCATCT		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.167A>C	17.37:g.18542519T>G	ENSP00000339973:p.Glu56Ala	Somatic	569	2	0.00351494		WXS	Illumina HiSeq	Phase_I	312	126	0.403846	NM_001039397	Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	CCDS42273.1	1125	0.5151098901098901	248	0.5040650406504065	183	0.505524861878453	377	0.6590909090909091	317	0.4182058047493404	N	7.143	0.582264	0.13749	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.44881	0.91;0.91	0.418	0.418	0.16429	.	0.321547	0.28187	U	0.016280	T	0.00012	0.0000	M	0.78916	2.43	0.80722	P	0.0	B	0.19331	0.035	B	0.08055	0.003	T	0.36578	-0.9742	8	0.59425	D	0.04	.	.	.	.	.	56	Q2M2D7	TBC28_HUMAN	A	56	ENSP00000339973:E56A;ENSP00000385821:E56A	ENSP00000339973:E56A	E	-	2	0	TBC1D28	18483244	0.334000	0.24739	0.001000	0.08648	0.001000	0.01503	0.493000	0.22451	0.402000	0.25451	0.392000	0.25879	GAG	T|0.485;G|0.515	0.515	strong		0.647	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		G	18542519	T	G	18542519	3	3	23	1	0	0	0	0	1	0	0	0	15614	1551	54	5	485	5	TBC1D28	17	18542519	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	538600	18542519	62652691	3866	20322										
FAM83G	644815	hgsc.bcm.edu	37	chr17	18874965	18874965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttctggtagagctctggaCgctgtcagcagcagagcggt	15	9	3	2	rs138715863	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:18874965C>T	ENST00000388995.6	-	6	2402	c.2179G>A	c.(2179-2181)Gtc>Atc	p.V727I	FAM83G_ENST00000345041.4_Missense_Mutation_p.V727I|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V727I|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	727					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGCTCTGGACGCTGTCAGCA	0.647													C|||	6	0.00119808	0.0	0.0029	5008	,	,		15509	0.0		0.002	False		,,,				2504	0.002				p.V727I		Atlas-SNP	.											FAM83G,right_upper_lobe,carcinoma,0,1	FAM83G	51	1	0			c.G2179A						scavenged	.	C	ILE/VAL,,	12,3902		0,12,1945	43	51	49		2179,,	-10	0	17	dbSNP_134	49	91,8161		0,91,4035	yes	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	29,,	0,103,5980	TT,TC,CC		1.1028,0.3066,0.8466	benign,,	727/824,,	18874965	103,12063	1957	4126	6083	SO:0001583	missense	644815	exon6			TCTGGACGCTGTC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2179G>A	17.37:g.18874965C>T	ENSP00000373647:p.Val727Ile	Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	101	4	0.039604	NM_001039999	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.408	-0.120880	0.06838	0.003066	0.011028	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.10960	2.82;2.82	5.29	-10.0	0.00425	.	1.466860	0.03806	N	0.265234	T	0.03827	0.0108	L	0.34521	1.04	0.09310	N	1	B	0.25048	0.117	B	0.15052	0.012	T	0.28586	-1.0039	10	0.33141	T	0.24	-6.3304	3.3167	0.07035	0.0917:0.2544:0.1818:0.472	.	727	A6ND36	FA83G_HUMAN	I	727	ENSP00000373647:V727I;ENSP00000343279:V727I	ENSP00000343279:V727I	V	-	1	0	FAM83G	18815690	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-2.909000	0.00699	-1.248000	0.02503	-0.221000	0.12465	GTC	C|0.995;T|0.005	0.005	strong		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			T	18874965	C	T	18874965	3	4	23	1	0	0	0	0	1	0	0	0	5639	536	19	1	296	1	FAM83G	17	18874965	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	332446	18874965	62320245	3867	20323										
CYTSB	92521	hgsc.bcm.edu	37	chr17	20013802	20013802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtaccgctgcatcgggggtGgttcgcctgaagaagaccgc	15	11	0	3	rs3764436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:20013802G>A	ENST00000261503.5	+	3	261	c.210G>A	c.(208-210)gtG>gtA	p.V70V	SPECC1_ENST00000395527.4_Silent_p.V70V|SPECC1_ENST00000395529.3_Silent_p.V70V|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	70					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CATCGGGGGTGGTTCGCCTGA	0.627													G|||	545	0.108826	0.0787	0.1369	5008	,	,		16233	0.0962		0.1223	False		,,,				2504	0.1288				p.V70V		Atlas-SNP	.											.	SPECC1	100	.	0			c.G210A						PASS	.	G	,	387,4019	191.6+/-217.2	19,349,1835	43	45	45		210,210	-9.5	0	17	dbSNP_107	45	1148,7452	234.9+/-267.6	85,978,3237	no	coding-synonymous,coding-synonymous	SPECC1	NM_001033553.2,NM_152904.4	,	104,1327,5072	AA,AG,GG		13.3488,8.7835,11.8022	,	70/1069,70/791	20013802	1535,11471	2203	4300	6503	SO:0001819	synonymous_variant	92521	exon3			GGGGGTGGTTCGC	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.210G>A	17.37:g.20013802G>A		Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	284	127	0.447183	NM_001033553	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	CCDS32590.1																																																																																			G|0.892;A|0.108	0.108	strong		0.627	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		A	20013802	G	A	20013802	2	1	23	1	0	0	0	0	0	0	0	1	4210	1335	47	2		2	CYTSB	17	20013802	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1138837	20013802	61181408	3868	20324										
CYTSB	92521	hgsc.bcm.edu	37	chr17	20108184	20108184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtcacactggcgacagcagCtgcccaacatccataactca	7	15	2	0	rs9908032	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:20108184C>G	ENST00000261503.5	+	4	873	c.822C>G	c.(820-822)agC>agG	p.S274R	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395527.4_Missense_Mutation_p.S274R|SPECC1_ENST00000395529.3_Missense_Mutation_p.S274R|SPECC1_ENST00000395530.2_Missense_Mutation_p.S193R|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.S193R|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.S193R	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	274	Ser-rich.		S -> R (in dbSNP:rs9908032). {ECO:0000269|Ref.1}.		cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCGACAGCAGCTGCCCAACAT	0.463													C|||	569	0.113618	0.093	0.1455	5008	,	,		18010	0.0942		0.1223	False		,,,				2504	0.1299				p.S274R		Atlas-SNP	.											.	SPECC1	100	.	0			c.C822G						PASS	.	C	ARG/SER,ARG/SER,ARG/SER,ARG/SER	506,3900	223.6+/-240.1	34,438,1731	66	75	72		822,579,579,822	5.4	1	17	dbSNP_119	72	1154,7446	234.6+/-267.5	86,982,3232	yes	missense,missense,missense,missense	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	110,110,110,110	120,1420,4963	GG,GC,CC		13.4186,11.4843,12.7633	probably-damaging,probably-damaging,probably-damaging,probably-damaging	274/1069,193/710,193/988,274/791	20108184	1660,11346	2203	4300	6503	SO:0001583	missense	92521	exon4			CAGCAGCTGCCCA	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.822C>G	17.37:g.20108184C>G	ENSP00000261503:p.Ser274Arg	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	35	0.514706	NM_001033553	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	229	0.10485347985347986	43	0.08739837398373984	43	0.11878453038674033	47	0.08216783216783216	96	0.1266490765171504	C	20.7	4.031537	0.75504	0.114843	0.134186	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.67171	-0.25;2.74;2.77;2.76	5.38	5.38	0.77491	.	0.136950	0.64402	D	0.000004	T	0.03477	0.0100	M	0.65498	2.005	0.09310	P	1.0	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.961;0.999;0.999;0.999;0.979	T	0.39542	-0.9609	9	0.59425	D	0.04	-17.4801	17.0048	0.86390	0.0:1.0:0.0:0.0	rs9908032	274;193;193;274;274	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	R	274;274;274;193;193;193	ENSP00000261503:S274R;ENSP00000378900:S274R;ENSP00000378893:S193R;ENSP00000378896:S193R	ENSP00000261503:S274R	S	+	3	2	SPECC1	20048776	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.068000	0.50018	2.698000	0.92095	0.655000	0.94253	AGC	C|0.883;G|0.117	0.117	strong		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		G	20108184	C	G	20108184	3	3	23	1	0	0	0	0	1	0	0	0	4210	796	28	4	876	4	CYTSB	17	20108184	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	94382	20108184	61087026	3869	20325										
MAP2K3	5606	hgsc.bcm.edu	37	chr17	21207844	21207844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggccaagacgatggatgcCggctgcaagccctacatggc	14	12	0	1	rs2230436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:21207844C>T	ENST00000342679.4	+	8	924	c.675C>T	c.(673-675)gcC>gcT	p.A225A	MAP2K3_ENST00000361818.5_Silent_p.A196A|MAP2K3_ENST00000316920.6_Silent_p.A196A	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGATGGATGCCGGCTGCAAGC	0.607																																					p.A225A		Atlas-SNP	.											.	MAP2K3	135	.	0			c.C675T						PASS	.						198	149	166					17																	21207844		2203	4300	6503	SO:0001819	synonymous_variant	5606	exon8			GGATGCCGGCTGC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.675C>T	17.37:g.21207844C>T		Somatic	380	0	0		WXS	Illumina HiSeq	Phase_I	374	85	0.227273	NM_145109	B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	CCDS11217.1																																																																																			C|0.592;T|0.408	0.408	strong		0.607	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		T	21207844	C	T	21207844	2	4	23	1	0	0	0	0	0	0	0	1	9238	639	23	1		1	MAP2K3	17	21207844	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1099660	21207844	59987366	3870	20326										
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21319488	21319488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgagattgacgaggccagCccgctcttcggcatcagccg	12	14	2	2	rs77176173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:21319488C>T	ENST00000583088.1	+	3	1729	c.834C>T	c.(832-834)agC>agT	p.S278S	KCNJ12_ENST00000331718.5_Silent_p.S278S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	278					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)	p.S278S(1)		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)	ACGAGGCCAGCCCGCTCTTCG	0.607										Prostate(3;0.18)																											p.S278S		Atlas-SNP	.											KCNJ12,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	lung(1)	c.C834T						scavenged	.						104	85	91					17																	21319488		2203	4300	6503	SO:0001819	synonymous_variant	100134444	exon3			GGCCAGCCCGCTC	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.834C>T	17.37:g.21319488C>T		Somatic	220	28	0.127273		WXS	Illumina HiSeq	Phase_I	190	25	0.131579	NM_001194958	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																			C|0.625;T|0.375	0.375	strong		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319488	C	T	21319488	2	4	23	1	0	0	0	0	0	0	0	1	8046	738	26	2		2	KCNJ12	17	21319488	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111644	21319488	59875722	3871	20327										
TMEM199	147007	hgsc.bcm.edu	37	chr17	26684707	26684707	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctagatatggcgtcctcttTgcttgcgggcgagcgattgg	15	9	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:26684707T>A	ENST00000292114.3	+	1	104	c.14T>A	c.(13-15)tTg>tAg	p.L5*	TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_5'Flank|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Nonsense_Mutation_p.L5*|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	5						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCGTCCTCTTTGCTTGCGGGC	0.692																																					p.L5X		Atlas-SNP	.											.	TMEM199	15	.	0			c.T14A						PASS	.						46	53	50					17																	26684707		2203	4299	6502	SO:0001587	stop_gained	147007	exon1			CCTCTTTGCTTGC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.14T>A	17.37:g.26684707T>A	ENSP00000292114:p.Leu5*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	41	16	0.390244	NM_152464		Nonsense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715363	0.68844	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	.	.	.	4.87	3.78	0.43462	.	0.423693	0.22233	N	0.062791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4721	9.6131	0.39674	0.0:0.0:0.1765:0.8235	.	.	.	.	X	5	.	ENSP00000292114:L5X	L	+	2	0	TMEM199	23708834	0.068000	0.21057	0.001000	0.08648	0.003000	0.03518	2.583000	0.46094	0.861000	0.35504	-0.313000	0.08912	TTG	.	.	none		0.692	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		A	26684707	T	A	26684707	4	1	23	1	0	0	0	0	0	1	0	0	16117	1821	63	5	16	5	TMEM199	17	26684707	Nonsense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5365219	26684707	54510503	3872	20328										
SUPT6H	6830	hgsc.bcm.edu	37	chr17	27016529	27016529	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatcttggaaaacccagagCgactgaaagacctggacctt	9	10	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27016529C>T	ENST00000314616.6	+	25	3575	c.3292C>T	c.(3292-3294)Cga>Tga	p.R1098*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1098*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1098	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAACCCAGAGCGACTGAAAGA	0.557																																					p.R1098X		Atlas-SNP	.											SUPT6H,NS,carcinoma,0,1	SUPT6H	165	1	0			c.C3292T						scavenged	.						69	67	68					17																	27016529		2203	4300	6503	SO:0001587	stop_gained	6830	exon25			CCAGAGCGACTGA	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3292C>T	17.37:g.27016529C>T	ENSP00000319104:p.Arg1098*	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	132	2	0.0151515	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	41	8.621950	0.98888	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	2.03	0.26663	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5718	13.8916	0.63742	0.5285:0.4715:0.0:0.0	.	.	.	.	X	1098	.	ENSP00000319104:R1098X	R	+	1	2	SUPT6H	24040656	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	1.513000	0.35823	0.582000	0.29556	-0.182000	0.12963	CGA	.	.	none		0.557	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27016529	C	T	27016529	4	4	23	1	0	0	0	0	0	1	0	0	15397	760	27	1	3386	1	SUPT6H	17	27016529	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	331822	27016529	54178681	3873	20329										
DHRS13	147015	hgsc.bcm.edu	37	chr17	27228198	27228198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgaggctaccaccaccacGcggctaggggcacatgcctt	12	15	0	1	rs4795474	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27228198G>A	ENST00000378895.4	-	4	618	c.492C>T	c.(490-492)cgC>cgT	p.R164R	DHRS13_ENST00000426464.2_Silent_p.R83R|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Silent_p.R114R	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	164						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCACCACCACGCGGCTAGGGG	0.627													G|||	702	0.140176	0.0794	0.1801	5008	,	,		17429	0.0754		0.1163	False		,,,				2504	0.2853				p.R164R		Atlas-SNP	.											DHRS13,NS,carcinoma,-1,1	DHRS13	22	1	0			c.C492T						PASS	.	G		430,3976	206.5+/-228.1	31,368,1804	79	80	80		492	-10.6	0.2	17	dbSNP_111	80	1064,7536	223.1+/-260.0	71,922,3307	no	coding-synonymous	DHRS13	NM_144683.3		102,1290,5111	AA,AG,GG		12.3721,9.7594,11.487		164/378	27228198	1494,11512	2203	4300	6503	SO:0001819	synonymous_variant	147015	exon4			CACCACGCGGCTA	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.492C>T	17.37:g.27228198G>A		Somatic	283	1	0.00353357		WXS	Illumina HiSeq	Phase_I	281	145	0.516014	NM_144683	Q96BH7	Silent	SNP	ENST00000378895.4	37	CCDS11246.2																																																																																			G|0.885;A|0.115	0.115	strong		0.627	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		A	27228198	G	A	27228198	2	1	23	1	0	0	0	0	0	0	0	1	4489	1074	38	1		1	DHRS13	17	27228198	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	211669	27228198	53967012	3874	20330										
SEZ6	124925	hgsc.bcm.edu	37	chr17	27284443	27284443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgaggatggagctgcccAtcagcacaaaaccctggtca	12	11	2	1	rs12941884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27284443A>G	ENST00000317338.12	-	12	2845	c.2417T>C	c.(2416-2418)aTg>aCg	p.M806T	SEZ6_ENST00000442608.3_Missense_Mutation_p.M806T|SEZ6_ENST00000360295.9_Missense_Mutation_p.M806T|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	806	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.		M -> T (in dbSNP:rs12941884). {ECO:0000269|PubMed:14702039}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGAGCTGCCCATCAGCACAAA	0.582													G|||	954	0.190495	0.2224	0.1859	5008	,	,		17489	0.123		0.1213	False		,,,				2504	0.2914				p.M806T		Atlas-SNP	.											.	SEZ6	61	.	0			c.T2417C						PASS	.	G	THR/MET,THR/MET	773,3133		88,597,1268	88	98	95		2417,2417	3.7	1	17	dbSNP_121	95	1033,7269		63,907,3181	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	81,81	151,1504,4449	GG,GA,AA		12.4428,19.7901,14.7936	benign,benign	806/994,806/995	27284443	1806,10402	1953	4151	6104	SO:0001583	missense	124925	exon12			CTGCCCATCAGCA	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2417T>C	17.37:g.27284443A>G	ENSP00000312942:p.Met806Thr	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	153	78	0.509804	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	311	0.1423992673992674	101	0.20528455284552846	56	0.15469613259668508	59	0.10314685314685315	95	0.12532981530343007	G	1.337	-0.595139	0.03771	0.197901	0.124428	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.64618	-0.11;-0.11	5.69	3.65	0.41850	Complement control module (2);Sushi/SCR/CCP (3);	0.060679	0.64402	N	0.000004	T	0.00039	0.0001	N	0.01048	-1.04	0.09310	P	0.9999999999999786	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08452	-1.0721	9	0.10636	T	0.68	.	8.0263	0.30438	0.1504:0.1309:0.7186:0.0	rs12941884;rs52816964;rs61301981;rs12941884	806;681;806	Q53EL9-3;Q53EL9-2;Q53EL9	.;.;SEZ6_HUMAN	T	806;806;681;806	ENSP00000403784:M806T;ENSP00000353440:M806T	ENSP00000312942:M681T	M	-	2	0	SEZ6	24308569	0.992000	0.36948	0.999000	0.59377	0.783000	0.44284	2.085000	0.41634	0.763000	0.33175	-0.642000	0.03964	ATG	A|0.847;G|0.153	0.153	strong		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			G	27284443	A	G	27284443	3	3	23	1	0	0	0	0	1	0	0	0	14142	217	8	2	604	2	SEZ6	17	27284443	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	56245	27284443	53910767	3875	20331										
SEZ6	124925	hgsc.bcm.edu	37	chr17	27284515	27284515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttggggctggatatgaggCgtcggctgtgctccacatct	14	10	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27284515C>T	ENST00000317338.12	-	12	2773	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R782H|SEZ6_ENST00000360295.9_Missense_Mutation_p.R782H|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	782	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGATATGAGGCGTCGGCTGTG	0.567																																					p.R782H		Atlas-SNP	.											SEZ6,colon,carcinoma,0,1	SEZ6	61	1	0			c.G2345A						scavenged	.						45	52	50					17																	27284515		1955	4144	6099	SO:0001583	missense	124925	exon12			ATGAGGCGTCGGC	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2345G>A	17.37:g.27284515C>T	ENSP00000312942:p.Arg782His	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	127	2	0.015748	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064473	0.76187	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T;T	0.64803	-0.12;-0.12;1.3	5.39	5.39	0.77823	Complement control module (2);Sushi/SCR/CCP (3);	0.066575	0.56097	D	0.000023	T	0.78084	0.4228	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.79543	-0.1760	10	0.72032	D	0.01	.	16.9908	0.86353	0.0:1.0:0.0:0.0	.	782;782	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	H	782;782;657;782	ENSP00000403784:R782H;ENSP00000353440:R782H;ENSP00000312942:R657H	ENSP00000312942:R657H	R	-	2	0	SEZ6	24308641	0.013000	0.17824	1.000000	0.80357	0.967000	0.64934	2.324000	0.43831	2.693000	0.91896	0.313000	0.20887	CGC	.	.	none		0.567	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			T	27284515	C	T	27284515	3	4	23	1	0	0	0	0	1	0	0	0	14142	768	27	1	676	1	SEZ6	17	27284515	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	72	27284515	53910695	3876	20332										
MYO18A	399687	hgsc.bcm.edu	37	chr17	27442710	27442710	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcccaggccactctcctcGgggccctggcggaaggaggt	14	15	2	0	rs28587908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27442710G>C	ENST00000527372.1	-	12	2379	c.2199C>G	c.(2197-2199)ccC>ccG	p.P733P	MYO18A_ENST00000354329.4_Silent_p.P733P|MYO18A_ENST00000533112.1_Silent_p.P733P|MYO18A_ENST00000531253.1_Silent_p.P733P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	733	Myosin motor.				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)			CACTCTCCTCGGGGCCCTGGC	0.642													G|||	495	0.0988419	0.149	0.0562	5008	,	,		19160	0.0456		0.0497	False		,,,				2504	0.1667				p.P733P	Esophageal Squamous(182;472 2015 7001 15270 22562)	Atlas-SNP	.											.	MYO18A	217	.	0			c.C2199G						PASS	.	G	,	497,3575		26,445,1565	26	32	30		2199,2199	-10.9	0.4	17	dbSNP_125	30	355,8015		5,345,3835	no	coding-synonymous,coding-synonymous	MYO18A	NM_078471.3,NM_203318.1	,	31,790,5400	CC,CG,GG		4.2413,12.2053,6.8478	,	733/2055,733/2040	27442710	852,11590	2036	4185	6221	SO:0001819	synonymous_variant	399687	exon12			CTCCTCGGGGCCC	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.2199C>G	17.37:g.27442710G>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	125	63	0.504	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	CCDS45642.1																																																																																			G|0.893;C|0.107	0.107	strong		0.642	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27442710	G	C	27442710	2	2	23	1	0	0	0	0	0	0	0	1	10065	1103	39	4		4	MYO18A	17	27442710	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	158195	27442710	53752500	3877	20333										
NUFIP2	57532	hgsc.bcm.edu	37	chr17	27613677	27613677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatctgtcccagaagagatGggtgttagagtattagcagc	13	6	1	3	rs12452857	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27613677G>A	ENST00000225388.4	-	2	1393	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	445						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAGAAGAGATGGGTGTTAGAG	0.433													G|||	772	0.154153	0.0371	0.2839	5008	,	,		20061	0.0119		0.2773	False		,,,				2504	0.2403				p.P445P		Atlas-SNP	.											.	NUFIP2	60	.	0			c.C1335T						PASS	.	G		333,4073	174.4+/-204.0	7,319,1877	81	81	81		1335	4.1	1	17	dbSNP_120	81	2433,6167	401.1+/-347.0	365,1703,2232	no	coding-synonymous	NUFIP2	NM_020772.2		372,2022,4109	AA,AG,GG		28.2907,7.5579,21.2671		445/696	27613677	2766,10240	2203	4300	6503	SO:0001819	synonymous_variant	57532	exon2			AGAGATGGGTGTT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1335C>T	17.37:g.27613677G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	142	77	0.542253	NM_020772	A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	CCDS32600.1																																																																																			G|0.815;A|0.185	0.185	strong		0.433	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		A	27613677	G	A	27613677	2	1	23	1	0	0	0	0	0	0	0	1	10749	1335	47	2		2	NUFIP2	17	27613677	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	170967	27613677	53581533	3878	20334										
TAOK1	57551	hgsc.bcm.edu	37	chr17	27835138	27835138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaagaaacaccaggctgcCatggagaaagaggtggctta	12	8	1	3	rs508706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:27835138C>T	ENST00000261716.3	+	14	2082	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	TAOK1_ENST00000536202.1_Silent_p.A521A	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	521					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACCAGGCTGCCATGGAGAAAG	0.378													T|||	4156	0.829872	0.8699	0.8674	5008	,	,		19327	0.7768		0.8777	False		,,,				2504	0.7546				p.A521A		Atlas-SNP	.											.	TAOK1	151	.	0			c.C1563T						PASS	.	T	,	3879,527	239.9+/-250.9	1709,461,33	75	74	74		1563,1563	-0.4	1	17	dbSNP_83	74	7450,1150	235.4+/-268.0	3224,1002,74	no	coding-synonymous,coding-synonymous	TAOK1	NM_020791.2,NM_025142.1	,	4933,1463,107	TT,TC,CC		13.3721,11.961,12.894	,	521/1002,521/854	27835138	11329,1677	2203	4300	6503	SO:0001819	synonymous_variant	57551	exon14			GGCTGCCATGGAG	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1563C>T	17.37:g.27835138C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	49	19	0.387755	NM_025142	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	CCDS32601.1																																																																																			C|0.135;A|0.007	.	strong		0.378	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		T	27835138	C	T	27835138	2	4	23	1	0	0	0	0	0	0	0	1	15544	581	21	2		2	TAOK1	17	27835138	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	221461	27835138	53360072	3879	20335										
ATAD5	79915	hgsc.bcm.edu	37	chr17	29161503	29161503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaaatgaagctccaattgAaattagtagcgacgatagca	9	6	0	3	rs11080134	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:29161503A>G	ENST00000321990.4	+	2	782	c.404A>G	c.(403-405)gAa>gGa	p.E135G	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	135			E -> G (in dbSNP:rs11080134). {ECO:0000269|PubMed:15489334}.		cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCTCCAATTGAAATTAGTAGC	0.289													A|||	759	0.151558	0.0673	0.2594	5008	,	,		19686	0.001		0.327	False		,,,				2504	0.1636				p.E135G		Atlas-SNP	.											.	ATAD5	150	.	0			c.A404G						PASS	.	A	GLY/GLU	482,3924		28,426,1749	118	135	130		404	4.2	1	17	dbSNP_120	130	2931,5661		496,1939,1861	yes	missense	ATAD5	NM_024857.3	98	524,2365,3610	GG,GA,AA		34.1131,10.9396,26.2579	possibly-damaging	135/1845	29161503	3413,9585	2203	4296	6499	SO:0001583	missense	79915	exon2			CAATTGAAATTAG		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.404A>G	17.37:g.29161503A>G	ENSP00000313171:p.Glu135Gly	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	28	12	0.428571	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	380	0.17399267399267399	29	0.05894308943089431	100	0.27624309392265195	1	0.0017482517482517483	250	0.32981530343007914	A	6.597	0.478550	0.12521	0.109396	0.341131	ENSG00000176208	ENST00000321990	T	0.18502	2.21	5.35	4.24	0.50183	.	2.337970	0.01197	N	0.007499	T	0.00012	0.0000	L	0.55481	1.735	0.30194	P	0.799222	D;D	0.56746	0.977;0.961	P;B	0.50659	0.647;0.444	T	0.18713	-1.0328	9	0.38643	T	0.18	.	6.6781	0.23106	0.7905:0.0:0.0723:0.1372	rs11080134;rs17767684;rs58774345;rs11080134	135;135	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	G	135	ENSP00000313171:E135G	ENSP00000313171:E135G	E	+	2	0	ATAD5	26185629	1.000000	0.71417	0.997000	0.53966	0.400000	0.30750	1.536000	0.36072	1.067000	0.40740	0.533000	0.62120	GAA	A|0.786;G|0.214	0.214	strong		0.289	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		G	29161503	A	G	29161503	3	3	23	1	0	0	0	0	1	0	0	0	1076	246	9	2	410	2	ATAD5	17	29161503	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1326365	29161503	52033707	3880	20336										
NF1	4763	hgsc.bcm.edu	37	chr17	29553485	29553485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgcagcggaacccccccGatttgccgacaagcccagac	11	16	0	1	rs2285892	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:29553485G>A	ENST00000358273.4	+	18	2417	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	NF1_ENST00000356175.3_Silent_p.P678P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	678			P -> L (in dbSNP:rs17881753). {ECO:0000269|Ref.7}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I679fs*21(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAACCCCCCCGATTTGCCGAC	0.483			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G|||	2488	0.496805	0.7428	0.4683	5008	,	,		17568	0.5258		0.2803	False		,,,				2504	0.3773				p.P678P		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586	.	13	Whole gene deletion(8)|Unknown(4)|Insertion - Frameshift(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	c.G2034A						PASS	.	G	,	2929,1477	677.5+/-403.4	983,963,257	56	63	61		2034,2034	-9.9	0.4	17	dbSNP_100	61	2486,6114	407.2+/-349.1	357,1772,2171	no	coding-synonymous,coding-synonymous	NF1	NM_000267.3,NM_001042492.2	,	1340,2735,2428	AA,AG,GG		28.907,33.5225,41.6346	,	678/2819,678/2840	29553485	5415,7591	2203	4300	6503	SO:0001819	synonymous_variant	4763	exon18	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CCCCCCGATTTGC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2034G>A	17.37:g.29553485G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	50	25	0.5	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																			G|0.568;A|0.432	0.432	strong		0.483	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29553485	G	A	29553485	2	1	23	1	0	0	0	0	0	0	0	1	10356	1045	37	1		1	NF1	17	29553485	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	391982	29553485	51641725	3881	20337										
OMG	4974	hgsc.bcm.edu	37	chr17	29623288	29623288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggacaaatgcataaaataCcaggtgtgagaaacagaagg	12	5	0	2	rs11080149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:29623288C>T	ENST00000247271.4	-	2	323	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	21			G -> D (in dbSNP:rs11080149).		cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GCATAAAATACCAGGTGTGAG	0.403													C|||	205	0.0409345	0.0076	0.0735	5008	,	,		20869	0.0		0.1054	False		,,,				2504	0.0389				p.G21D		Atlas-SNP	.											.	OMG	30	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.G62A						PASS	.	C	,,ASP/GLY	113,4293	86.3+/-125.0	0,113,2090	78	75	76		,,62	3.2	1	17	dbSNP_120	76	1032,7568	218.4+/-256.8	67,898,3335	yes	intron,intron,missense	NF1,OMG	NM_000267.3,NM_001042492.2,NM_002544.4	,,94	67,1011,5425	TT,TC,CC		12.0,2.5647,8.8036	,,possibly-damaging	,,21/441	29623288	1145,11861	2203	4300	6503	SO:0001583	missense	4974	exon2			AAAATACCAGGTG		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.62G>A	17.37:g.29623288C>T	ENSP00000247271:p.Gly21Asp	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	161	79	0.490683	NM_002544	E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	CCDS11265.1	109	0.04990842490842491	6	0.012195121951219513	20	0.055248618784530384	0	0.0	83	0.10949868073878628	C	9.393	1.075892	0.20227	0.025647	0.12	ENSG00000126861	ENST00000247271	T	0.61392	0.11	5.23	3.15	0.36227	.	0.309106	0.27696	N	0.018239	T	0.00637	0.0021	L	0.27053	0.805	0.38132	P	0.06181199999999998	B	0.16802	0.019	B	0.16289	0.015	T	0.09640	-1.0665	9	0.66056	D	0.02	-1.5116	7.3305	0.26580	0.0:0.4951:0.3546:0.1503	rs11080149;rs17767990;rs17878280;rs56581348;rs57667724;rs11080149	21	P23515	OMGP_HUMAN	D	21	ENSP00000247271:G21D	ENSP00000247271:G21D	G	-	2	0	OMG	26647414	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	1.113000	0.31184	1.314000	0.45095	0.557000	0.71058	GGT	C|0.931;T|0.069	0.069	strong		0.403	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		T	29623288	C	T	29623288	3	4	23	1	0	0	0	0	1	0	0	0	10866	507	18	2	1264	2	OMG	17	29623288	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	69803	29623288	51571922	3882	20338										
UTP6	55813	hgsc.bcm.edu	37	chr17	30200750	30200750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcactccactctgcccagGaaatccacaatggcagacaa	6	15	2	1	rs267604797		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:30200750G>A	ENST00000261708.4	-	15	1465	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	443					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTCTGCCCAGGAAATCCACAA	0.428																																					p.S443F		Atlas-SNP	.											.	UTP6	46	.	0			c.C1328T						PASS	.						199	189	192					17																	30200750		2203	4300	6503	SO:0001583	missense	55813	exon15			GCCCAGGAAATCC	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1328C>T	17.37:g.30200750G>A	ENSP00000261708:p.Ser443Phe	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	51	4	0.0784314	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626443	0.28978	.	.	ENSG00000108651	ENST00000261708	T	0.34859	1.34	5.1	2.71	0.32032	Tetratricopeptide-like helical (1);	0.326861	0.31301	N	0.007891	T	0.18841	0.0452	L	0.29908	0.895	0.29239	N	0.872766	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15636	-1.0430	10	0.08837	T	0.75	-7.7125	4.5063	0.11889	0.3816:0.0:0.6184:0.0	.	443;443	B3KQ21;Q9NYH9	.;UTP6_HUMAN	F	443	ENSP00000261708:S443F	ENSP00000261708:S443F	S	-	2	0	UTP6	27224863	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.107000	0.57811	1.291000	0.44653	0.650000	0.86243	TCC	.	.	none		0.428	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		A	30200750	G	A	30200750	3	1	23	1	0	0	0	0	1	0	0	0	17099	1174	41	2	485	2	UTP6	17	30200750	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	577462	30200750	50994460	3883	20339										
SPACA3	124912	hgsc.bcm.edu	37	chr17	31322691	31322691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaactggccagagtgctacAtgacttcgggctggacggat	14	9	0	3	rs28963	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:31322691A>G	ENST00000269053.3	+	2	369	c.299A>G	c.(298-300)cAt>cGt	p.H100R	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000580599.1_Missense_Mutation_p.H31R|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	100			H -> R (in dbSNP:rs28963).		cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AGAGTGCTACATGACTTCGGG	0.612																																					p.H100R		Atlas-SNP	.											.	SPACA3	35	.	0			c.A299G						PASS	.	A	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	102	67	79		299	-1	0	17	dbSNP_76	79	14,8586	10.5+/-38.8	0,14,4286	yes	missense	SPACA3	NM_173847.3	29	0,15,6488	GG,GA,AA		0.1628,0.0227,0.1153	benign	100/216	31322691	15,12991	2203	4300	6503	SO:0001583	missense	124912	exon2			TGCTACATGACTT	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.299A>G	17.37:g.31322691A>G	ENSP00000269053:p.His100Arg	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	203	101	0.497537	NM_173847	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	2.934|2.934	-0.220387|-0.220387	0.06061|0.06061	2.27E-4|2.27E-4	0.001628|0.001628	ENSG00000141316|ENSG00000141316	ENST00000269053;ENST00000394637|ENST00000411740	T|.	0.67345|.	-0.26|.	3.82|3.82	-0.968|-0.968	0.10313|0.10313	Lysozyme-like domain (1);|.	0.660523|.	0.13489|.	N|.	0.384114|.	T|T	0.16642|0.16642	0.0400|0.0400	N|N	0.05230|0.05230	-0.09|-0.09	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|6	0.39692|0.87932	T|D	0.17|0	-7.1977|-7.1977	3.9109|3.9109	0.09202|0.09202	0.4882:0.1912:0.3206:0.0|0.4882:0.1912:0.3206:0.0	rs28963;rs52826872;rs28963|rs28963;rs52826872;rs28963	100|.	Q8IXA5|.	SACA3_HUMAN|.	R|V	100;101|1	ENSP00000269053:H100R|.	ENSP00000269053:H100R|ENSP00000392807:M1V	H|M	+|+	2|1	0|0	SPACA3|SPACA3	28346804|28346804	0.026000|0.026000	0.19158|0.19158	0.000000|0.000000	0.03702|0.03702	0.607000|0.607000	0.37147|0.37147	2.419000|2.419000	0.44671|0.44671	-0.692000|-0.692000	0.05128|0.05128	-0.443000|-0.443000	0.05667|0.05667	CAT|ATG	A|0.998;G|0.002	0.002	strong		0.612	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		G	31322691	A	G	31322691	3	3	23	1	0	0	0	0	1	0	0	0	14973	217	8	2	305	2	SPACA3	17	31322691	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1121941	31322691	49872519	3884	20340										
ACCN1	40	hgsc.bcm.edu	37	chr17	31618732	31618732	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgggttgttgttgcacacAgtgacggcggggaagggtaa	18	6	0	1	rs9893935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:31618732A>G	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Silent_p.T134T	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGTTGCACACAGTGACGGCGG	0.672													G|||	2804	0.559904	0.5673	0.5922	5008	,	,		12047	0.7649		0.4851	False		,,,				2504	0.3926				p.T134T		Atlas-SNP	.											ACCN1,NS,carcinoma,0,2	.	.	2	0			c.T402C						scavenged	.	G	,	2418,1942		705,1008,467	31	30	30		,402	-1.1	1	17	dbSNP_119	30	4241,4311		1081,2079,1116	no	intron,coding-synonymous	ACCN1	NM_001094.4,NM_183377.1	,	1786,3087,1583	GG,GA,AA		49.5907,44.5413,48.4278	,	,134/564	31618732	6659,6253	2180	4276	6456	SO:0001627	intron_variant	40	exon1			GCACACAGTGACG	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179647T>C	17.37:g.31618732A>G		Somatic	110	2	0.0181818		WXS	Illumina HiSeq	Phase_I	101	39	0.386139	NM_183377	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																			A|0.468;G|0.532	0.532	strong		0.672	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		G	31618732	A	G	31618732	1	3	23	0	1	0	0	0	0	0	0	0	128	175	7	3		3	ACCN1	17	31618732	Intron	SNP	A	TCGA-GR-7353-01A-11D-2210-10	296041	31618732	49576478	3885	20341										
UNC45B	146862	hgsc.bcm.edu	37	chr17	33513337	33513337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaacccagtggttggagaTcctccagcggctttgcctgc	12	13	0	1	rs11654824	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:33513337T>A	ENST00000268876.5	+	20	2652	c.2555T>A	c.(2554-2556)aTc>aAc	p.I852N	UNC45B_ENST00000394570.2_Missense_Mutation_p.I850N|UNC45B_ENST00000591048.1_Missense_Mutation_p.I771N|UNC45B_ENST00000433649.1_Missense_Mutation_p.I850N|UNC45B_ENST00000378449.1_Missense_Mutation_p.I771N|RP11-799D4.2_ENST00000590144.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	852			I -> N (in dbSNP:rs11654824).		cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGTTGGAGATCCTCCAGCGG	0.567													T|||	169	0.033746	0.0053	0.0317	5008	,	,		19749	0.0		0.0905	False		,,,				2504	0.0501				p.I852N		Atlas-SNP	.											.	UNC45B	133	.	0			c.T2555A						PASS	.	T	ASN/ILE,ASN/ILE	65,4341	61.1+/-98.1	2,61,2140	82	82	82		2549,2555	6	1	17	dbSNP_120	82	627,7973	163.0+/-215.7	13,601,3686	yes	missense,missense	UNC45B	NM_001033576.1,NM_173167.2	149,149	15,662,5826	AA,AT,TT		7.2907,1.4753,5.3206	possibly-damaging,possibly-damaging	850/930,852/932	33513337	692,12314	2203	4300	6503	SO:0001583	missense	146862	exon20			TGGAGATCCTCCA	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2555T>A	17.37:g.33513337T>A	ENSP00000268876:p.Ile852Asn	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	136	69	0.507353	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	102	0.046703296703296704	5	0.01016260162601626	16	0.04419889502762431	0	0.0	81	0.10686015831134564	T	17.96	3.516186	0.64634	0.014753	0.072907	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.51574	0.7;1.45;0.7	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	M	0.75615	2.305	0.09310	P	0.999999791172	D;D;P	0.89917	0.999;1.0;0.93	D;D;P	0.91635	0.997;0.999;0.496	T	0.39961	-0.9588	9	0.87932	D	0	-26.2242	15.7258	0.77756	0.0:0.0:0.0:1.0	rs11654824;rs52819819;rs11654824	771;850;852	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	852;852;850;771	ENSP00000268876:I852N;ENSP00000412840:I850N;ENSP00000367710:I771N	ENSP00000268876:I852N	I	+	2	0	UNC45B	30537450	1.000000	0.71417	0.958000	0.39756	0.992000	0.81027	7.886000	0.87288	2.311000	0.77944	0.533000	0.62120	ATC	T|0.948;A|0.052	0.052	strong		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33513337	T	A	33513337	3	1	23	1	0	0	0	0	1	0	0	0	16986	1435	50	5	2629	5	UNC45B	17	33513337	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1894605	33513337	47681873	3886	20342										
SLFN12	55106	hgsc.bcm.edu	37	chr17	33749758	33749758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagtagttaccattctgcAtgaagtctaagtactcagga	9	7	3	1	rs138003670	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:33749758A>G	ENST00000394562.1	-	4	813	c.290T>C	c.(289-291)aTg>aCg	p.M97T	SLFN12_ENST00000304905.5_Missense_Mutation_p.M97T|SLFN12_ENST00000452764.3_Missense_Mutation_p.M97T|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	97							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATTCTGCATGAAGTCTAA	0.358													A|||	8	0.00159744	0.0	0.0	5008	,	,		20665	0.0		0.006	False		,,,				2504	0.002				p.M97T		Atlas-SNP	.											.	SLFN12	56	.	0			c.T290C						PASS	.	A	THR/MET	3,4403	6.2+/-15.9	0,3,2200	70	70	70		290	0.7	0.1	17	dbSNP_134	70	31,8569	21.6+/-65.8	0,31,4269	yes	missense	SLFN12	NM_018042.3	81	0,34,6469	GG,GA,AA		0.3605,0.0681,0.2614	benign	97/579	33749758	34,12972	2203	4300	6503	SO:0001583	missense	55106	exon2			TTCTGCATGAAGT	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.290T>C	17.37:g.33749758A>G	ENSP00000378063:p.Met97Thr	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	117	53	0.452991	NM_018042	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	a	12.33	1.906264	0.33628	6.81E-4	0.003605	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.22945	3.79;3.79;3.79;1.93	3.27	0.658	0.17855	.	.	.	.	.	T	0.19406	0.0466	L	0.58583	1.82	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.09975	-1.0650	9	0.46703	T	0.11	.	5.5093	0.16872	0.5168:0.0:0.0:0.4831	.	97	Q8IYM2	SLN12_HUMAN	T	97	ENSP00000378063:M97T;ENSP00000302077:M97T;ENSP00000394903:M97T;ENSP00000398315:M97T	ENSP00000302077:M97T	M	-	2	0	SLFN12	30773871	0.062000	0.20869	0.071000	0.20095	0.053000	0.15095	0.162000	0.16501	-0.026000	0.13895	0.358000	0.22013	ATG	A|0.998;G|0.002	0.002	strong		0.358	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		G	33749758	A	G	33749758	3	3	23	1	0	0	0	0	1	0	0	0	14734	217	8	2	1458	2	SLFN12	17	33749758	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	236421	33749758	47445452	3887	20343										
SLFN13	146857	hgsc.bcm.edu	37	chr17	33768199	33768199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagtgactggtctgaaagtaGtccagaaagatccagagaac	11	7	1	5	rs1822403	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:33768199G>A	ENST00000285013.6	-	6	2384	c.2109C>T	c.(2107-2109)gaC>gaT	p.D703D	SLFN13_ENST00000533791.1_Silent_p.D703D|SLFN13_ENST00000542635.1_Silent_p.D703D|SLFN13_ENST00000534689.1_Silent_p.D385D|SLFN13_ENST00000360502.2_Silent_p.D385D|SLFN13_ENST00000526861.1_Silent_p.D703D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	703						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.D703D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGAAAGTAGTCCAGAAAGA	0.478													G|||	1854	0.370208	0.5068	0.3314	5008	,	,		16920	0.3849		0.3688	False		,,,				2504	0.1994				p.D703D		Atlas-SNP	.											SLFN13,NS,carcinoma,0,1	SLFN13	79	1	1	Substitution - coding silent(1)	stomach(1)	c.C2109T						PASS	.	G		2104,2302	565.2+/-381.6	518,1068,617	129	136	133		2109	2.4	1	17	dbSNP_92	133	3222,5378	484.4+/-371.4	610,2002,1688	no	coding-synonymous	SLFN13	NM_144682.5		1128,3070,2305	AA,AG,GG		37.4651,47.7531,40.9503		703/898	33768199	5326,7680	2203	4300	6503	SO:0001819	synonymous_variant	146857	exon6			AAAGTAGTCCAGA	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2109C>T	17.37:g.33768199G>A		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	149	77	0.516779	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	CCDS32620.1																																																																																			.	.	weak		0.478	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		A	33768199	G	A	33768199	2	1	23	1	0	0	0	0	0	0	0	1	14736	1020	36	2		2	SLFN13	17	33768199	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18441	33768199	47427011	3888	20344										
SLFN13	146857	hgsc.bcm.edu	37	chr17	33768354	33768354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttctcttaggaaagtttCccgggtctctgctcggcaga	10	10	2	1	rs3744371	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:33768354C>T	ENST00000285013.6	-	6	2229	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SLFN13_ENST00000533791.1_Missense_Mutation_p.E652K|SLFN13_ENST00000542635.1_Missense_Mutation_p.E652K|SLFN13_ENST00000534689.1_Missense_Mutation_p.E334K|SLFN13_ENST00000360502.2_Missense_Mutation_p.E334K|SLFN13_ENST00000526861.1_Missense_Mutation_p.E652K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	652			E -> K (in dbSNP:rs3744371).			intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGGAAAGTTTCCCGGGTCTCT	0.383													T|||	3250	0.648962	0.8684	0.4697	5008	,	,		16352	0.6508		0.5159	False		,,,				2504	0.6145				p.E652K		Atlas-SNP	.											.	SLFN13	79	.	0			c.G1954A						PASS	.	T	LYS/GLU	3243,1099		1356,531,284	55	70	65		1954	0.7	0	17	dbSNP_107	65	4264,4316		1194,1876,1220	no	missense	SLFN13	NM_144682.5	56	2550,2407,1504	TT,TC,CC		49.697,25.3109,41.9053	benign	652/898	33768354	7507,5415	2171	4290	6461	SO:0001583	missense	146857	exon6			AAGTTTCCCGGGT	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1954G>A	17.37:g.33768354C>T	ENSP00000285013:p.Glu652Lys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	1243	0.5691391941391941	383	0.7784552845528455	168	0.46408839779005523	359	0.6276223776223776	333	0.4393139841688654	t	0.101	-1.152030	0.01700	0.746891	0.49697	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	3.29	0.733	0.18289	Domain of unknown function DUF2075 (1);	0.125186	0.36374	N	0.002635	T	0.00012	0.0000	N	0.00151	-1.98	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40646	-0.9552	9	0.02654	T	1	.	6.4298	0.21790	0.0:0.3655:0.0:0.6345	rs3744371;rs59618665;rs3744371	334;652	Q68D06-2;Q68D06	.;SLN13_HUMAN	K	652;334;652;652;334	ENSP00000285013:E652K;ENSP00000353692:E334K;ENSP00000434439:E652K;ENSP00000444016:E652K;ENSP00000435442:E334K	ENSP00000285013:E652K	E	-	1	0	SLFN13	30792467	0.948000	0.32251	0.009000	0.14445	0.016000	0.09150	0.960000	0.29253	-0.330000	0.08514	-1.140000	0.01884	GAA	C|0.421;T|0.579	0.579	strong		0.383	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		T	33768354	C	T	33768354	3	4	23	1	0	0	0	0	1	0	0	0	14736	864	30	2	743	2	SLFN13	17	33768354	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	155	33768354	47426856	3889	20345										
SLFN12L	100506736	hgsc.bcm.edu	37	chr17	33806863	33806863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccatgatttcacaaaaatGtgaaagtagttaccattctg	6	8	2	2	rs12451746	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:33806863G>A	ENST00000260908.7	-	2	483	c.366C>T	c.(364-366)caC>caT	p.H122H	SLFN12L_ENST00000449046.1_Silent_p.H153H|SLFN12L_ENST00000361112.4_Silent_p.H151H|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	122						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.H153H(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCACAAAAATGTGAAAGTAGT	0.398													G|||	1646	0.328674	0.3964	0.3473	5008	,	,		20602	0.2589		0.4125	False		,,,				2504	0.2096				p.H122H		Atlas-SNP	.											SLFN12L_ENST00000449046,NS,carcinoma,0,1	SLFN12L	140	1	1	Substitution - coding silent(1)	stomach(1)	c.C366T						PASS	.	G		558,826		115,328,249	114	101	105		366	-5	0	17	dbSNP_120	105	1355,1827		294,767,530	no	coding-synonymous	SLFN12L	NM_001195790.1		409,1095,779	AA,AG,GG		42.5833,40.3179,41.8966		122/589	33806863	1913,2653	692	1591	2283	SO:0001819	synonymous_variant	100506736	exon2			AAAAATGTGAAAG	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.366C>T	17.37:g.33806863G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	174	94	0.54023	NM_001195790	F5H6G3	Silent	SNP	ENST00000260908.7	37	CCDS56026.1																																																																																			G|0.626;A|0.374	0.374	strong		0.398	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		A	33806863	G	A	33806863	2	1	23	1	0	0	0	0	0	0	0	1	14735	1368	48	2		2	SLFN12L	17	33806863	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	38509	33806863	47388347	3890	20346										
CCL23	6368	hgsc.bcm.edu	37	chr17	34340284	34340284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccagcttcagcattctcaCgcaaacctgaacttgcttat	6	13	2	1	rs1003645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:34340284C>T	ENST00000591423.1	-	4	380	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	CCL23_ENST00000293280.2_Missense_Mutation_p.V123M|RP11-104J23.1_ENST00000590192.1_RNA|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	106			V -> M (in dbSNP:rs1003645). {ECO:0000269|PubMed:10213461, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9104803, ECO:0000269|PubMed:9558365, ECO:0000269|Ref.1, ECO:0000269|Ref.6}.		cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCATTCTCACGCAAACCTGA	0.498													T|||	2608	0.520767	0.1044	0.719	5008	,	,		18556	0.5744		0.8062	False		,,,				2504	0.5941				p.V123M		Atlas-SNP	.											.	CCL23	17	.	0			c.G367A						PASS	.	T	MET/VAL,MET/VAL	880,3526	743.2+/-411.4	95,690,1418	111	88	96		367,316	-0.2	0	17	dbSNP_89	96	7001,1599	297.7+/-303.5	2819,1363,118	yes	missense,missense	CCL23	NM_005064.3,NM_145898.1	21,21	2914,2053,1536	TT,TC,CC		18.593,19.9728,39.4049	benign,benign	123/138,106/121	34340284	7881,5125	2203	4300	6503	SO:0001583	missense	6368	exon4			TTCTCACGCAAAC	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.316G>A	17.37:g.34340284C>T	ENSP00000465954:p.Val106Met	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	140	140	1	NM_005064	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	CCDS59282.1	1268	0.5805860805860806	63	0.12804878048780488	267	0.7375690607734806	323	0.5646853146853147	615	0.8113456464379947	T	0.693	-0.793645	0.02862	0.199728	0.81407	ENSG00000167236	ENST00000293280	T	0.04194	3.68	3.71	-0.245	0.13027	Chemokine interleukin-8-like domain (3);	1.502520	0.04759	N	0.426020	T	0.00012	0.0000	N	0.01197	-0.965	0.80722	P	0.0	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.003	T	0.27839	-1.0062	9	0.02654	T	1	.	4.3408	0.11108	0.0:0.3091:0.17:0.5209	rs1003645;rs52818917;rs60170953;rs1003645	106;123	P55773;P55773-2	CCL23_HUMAN;.	M	123	ENSP00000293280:V123M	ENSP00000293280:V123M	V	-	1	0	CCL23	31364397	0.099000	0.21834	0.015000	0.15790	0.003000	0.03518	-0.206000	0.09398	-0.566000	0.06054	-0.443000	0.05667	GTG	C|0.421;T|0.579	0.579	strong		0.498	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		T	34340284	C	T	34340284	3	4	23	1	0	0	0	0	1	0	0	0	2895	536	19	1	50	1	CCL23	17	34340284	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	533421	34340284	46854926	3891	20347										
MYO19	80179	hgsc.bcm.edu	37	chr17	34884029	34884029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaccccggattgtggccaTtgacctggaagagataacgt	12	10	0	3	rs61738887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:34884029T>C	ENST00000431794.3	-	4	539	c.17A>G	c.(16-18)aAt>aGt	p.N6S	MYO19_ENST00000268852.9_Missense_Mutation_p.N6S|MYO19_ENST00000586007.1_Missense_Mutation_p.N6S|MYO19_ENST00000544606.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	6						cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATTGTGGCCATTGACCTGGAA	0.577													T|||	444	0.0886581	0.1142	0.072	5008	,	,		18846	0.1062		0.0278	False		,,,				2504	0.1104				p.N6S		Atlas-SNP	.											.	MYO19	130	.	0			c.A17G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN	417,3487		31,355,1566	32	33	32		17,17,17	2.1	1	17	dbSNP_129	32	227,8043		1,225,3909	yes	missense,missense,missense	MYO19	NM_001033580.2,NM_001163735.1,NM_025109.5	46,46,46	32,580,5475	CC,CT,TT		2.7449,10.6814,5.29	benign,benign,benign	6/318,6/971,6/771	34884029	644,11530	1952	4135	6087	SO:0001583	missense	80179	exon5			TGGCCATTGACCT	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.17A>G	17.37:g.34884029T>C	ENSP00000409936:p.Asn6Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	71	30	0.422535	NM_001163735	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	166	0.076007326007326	56	0.11382113821138211	26	0.0718232044198895	65	0.11363636363636363	19	0.025065963060686015	T	14.05	2.420349	0.42918	0.106814	0.027449	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89196	-2.3;-2.48	5.46	2.12	0.27331	.	0.152848	0.30356	N	0.009820	T	0.08133	0.0203	L	0.29908	0.895	0.09310	P	0.999999999818922	B;B;B	0.20671	0.028;0.047;0.047	B;B;B	0.20767	0.007;0.031;0.015	T	0.57510	-0.7799	9	0.87932	D	0	.	8.6507	0.34033	0.0:0.2172:0.0:0.7828	.	6;6;6	Q96H55;Q96H55-2;Q96H55-4	MYO19_HUMAN;.;.	S	6	ENSP00000409936:N6S;ENSP00000268852:N6S	ENSP00000268852:N6S	N	-	2	0	MYO19	31958142	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	3.346000	0.52190	0.177000	0.19895	-0.250000	0.11733	AAT	T|0.931;C|0.069	0.069	strong		0.577	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		C	34884029	T	C	34884029	3	2	23	1	0	0	0	0	1	0	0	0	10067	1493	52	2	3047	2	MYO19	17	34884029	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	543745	34884029	46311181	3892	20348										
C17orf78	284099	hgsc.bcm.edu	37	chr17	35743010	35743010	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagagacttttcccaccaCtgccccttctataactcctg	4	16	2	1	rs1714987	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:35743010C>G	ENST00000300618.4	+	4	505	c.455C>G	c.(454-456)aCt>aGt	p.T152S	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000589665.1_5'Flank|RP11-378E13.3_ENST00000592238.1_RNA	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	152			T -> S (in dbSNP:rs1714987). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)		p.T152S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TTTCCCACCACTGCCCCTTCT	0.388													C|||	1584	0.316294	0.2526	0.2493	5008	,	,		15541	0.5377		0.1918	False		,,,				2504	0.3497				p.T152S		Atlas-SNP	.											C17orf78,NS,carcinoma,0,1	C17orf78	23	1	1	Substitution - Missense(1)	stomach(1)	c.C455G						PASS	.	C	SER/THR,,	875,2713		118,639,1037	54	49	51		455,,	1.9	0	17	dbSNP_89	51	1471,6647		146,1179,2734	yes	missense,intron,intron	ACACA,C17orf78	NM_173625.3,NM_198834.1,NM_198839.1	58,,	264,1818,3771	GG,GC,CC		18.1202,24.3868,20.041	possibly-damaging,,	152/276,,	35743010	2346,9360	1794	4059	5853	SO:0001583	missense	284099	exon4			CCACCACTGCCCC	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.455C>G	17.37:g.35743010C>G	ENSP00000300618:p.Thr152Ser	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	105	46	0.438095	NM_173625	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	695	0.3182234432234432	145	0.29471544715447157	91	0.2513812154696133	316	0.5524475524475524	143	0.18865435356200527	C	8.831	0.940004	0.18281	0.243868	0.181202	ENSG00000167230	ENST00000300618	T	0.48201	0.82	4.94	1.87	0.25490	.	0.660665	0.13966	N	0.350483	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	B	0.15930	0.015	B	0.16289	0.015	T	0.46775	-0.9167	9	0.26408	T	0.33	-1.6736	7.1964	0.25855	0.0:0.7231:0.0:0.2769	rs1714987;rs17846097;rs17859100;rs52823794;rs57014482;rs1714987	152	Q8N4C9	CQ078_HUMAN	S	152	ENSP00000300618:T152S	ENSP00000300618:T152S	T	+	2	0	C17orf78	32817123	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.114000	0.10757	0.375000	0.24679	0.655000	0.94253	ACT	C|0.700;G|0.300	0.300	strong		0.388	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		G	35743010	C	G	35743010	3	3	23	1	0	0	0	0	1	0	0	0	1883	565	20	4	469	4	C17orf78	17	35743010	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	858981	35743010	45452200	3893	20349										
SYNRG	11276	hgsc.bcm.edu	37	chr17	35896123	35896123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagccgattaggttattccaTactttatcgatgtccttcag	7	9	1	0	rs1045000	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:35896123T>C	ENST00000339208.6	-	19	3764	c.3624A>G	c.(3622-3624)gtA>gtG	p.V1208V	SYNRG_ENST00000345615.4_Silent_p.V1130V|SYNRG_ENST00000591288.1_Silent_p.V1002V|SYNRG_ENST00000585472.1_Silent_p.V1129V|SYNRG_ENST00000502449.2_Silent_p.V1085V|SYNRG_ENST00000394378.2_Silent_p.V1130V|SYNRG_ENST00000346661.4_Silent_p.V1208V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1208					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTATTCCATACTTTATCGA	0.468													T|||	1174	0.234425	0.1793	0.366	5008	,	,		22803	0.255		0.2197	False		,,,				2504	0.2096				p.V1208V		Atlas-SNP	.											.	SYNRG	101	.	0			c.A3624G						PASS	.	T	,,,,,,	870,3536	340.2+/-306.1	99,672,1432	196	163	174		3390,3387,3255,3006,3624,3390,3390	-11.3	0.2	17	dbSNP_86	174	1928,6672	341.2+/-323.9	215,1498,2587	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	,,,,,,	314,2170,4019	CC,CT,TT		22.4186,19.7458,21.5131	,,,,,,	1130/1237,1129/1236,1085/1180,1002/1109,1208/1315,1130/1225,1130/1260	35896123	2798,10208	2203	4300	6503	SO:0001819	synonymous_variant	11276	exon19			ATTCCATACTTTA	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3624A>G	17.37:g.35896123T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	135	58	0.42963	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	CCDS11321.1																																																																																			T|0.778;C|0.222	0.222	strong		0.468	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		C	35896123	T	C	35896123	2	2	23	1	0	0	0	0	0	0	0	1	15457	1393	49	2		2	SYNRG	17	35896123	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	153113	35896123	45299087	3894	20350										
SYNRG	11276	hgsc.bcm.edu	37	chr17	35956391	35956391	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcatcggcatcaggcctGctgaaaatataaagacatta	9	9	1	2	rs12944821	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:35956391G>C	ENST00000339208.6	-	3	259	c.119C>G	c.(118-120)gCa>gGa	p.A40G	SYNRG_ENST00000345615.4_Splice_Site_p.A40G|SYNRG_ENST00000591288.1_Splice_Site_p.A40G|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Splice_Site_p.A40G|SYNRG_ENST00000394378.2_Splice_Site_p.A40G|SYNRG_ENST00000346661.4_Splice_Site_p.A40G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	40			A -> G (in dbSNP:rs12944821).		endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATCAGGCCTGCTGAAAATAT	0.383													G|||	1009	0.201478	0.1203	0.3372	5008	,	,		21269	0.251		0.1789	False		,,,				2504	0.1871				p.A40G		Atlas-SNP	.											SYNRG,rectum,carcinoma,0,1	SYNRG	101	1	0			c.C119G						scavenged	.	G	GLY/ALA,,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA	564,3842	251.8+/-258.4	39,486,1678	83	78	80		119,,119,119,119,119,119	3.7	1	17	dbSNP_121	80	1587,7013	295.7+/-302.5	151,1285,2864	yes	missense-near-splice,intron,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	60,,60,60,60,60,60	190,1771,4542	CC,CG,GG		18.4535,12.8007,16.5385	benign,,benign,benign,benign,benign,benign	40/1237,,40/1180,40/1109,40/1315,40/1225,40/1260	35956391	2151,10855	2203	4300	6503	SO:0001630	splice_region_variant	11276	exon3			AGGCCTGCTGAAA	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.119-1C>G	17.37:g.35956391G>C		Somatic	116	1	0.00862069		WXS	Illumina HiSeq	Phase_I	118	49	0.415254	NM_001163544	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	440	0.20146520146520147	55	0.11178861788617886	116	0.32044198895027626	139	0.243006993006993	130	0.17150395778364116	G	13.47	2.246510	0.39697	0.128007	0.184535	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.46451	1.53;1.53;0.87;0.87;0.87	6.07	3.74	0.42951	.	0.470274	0.20873	N	0.084129	T	0.00012	0.0000	L	0.27053	0.805	0.29416	P	0.860872	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.34477	-0.9827	9	0.24483	T	0.36	.	12.9222	0.58239	0.0721:0.1192:0.8088:0.0	rs12944821;rs12944821	40;40;40;40;40;40;40	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	G	40	ENSP00000005279:A40G;ENSP00000343610:A40G;ENSP00000315722:A40G;ENSP00000424893:A40G;ENSP00000377903:A40G	ENSP00000343610:A40G	A	-	2	0	SYNRG	33030504	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	3.224000	0.51238	1.548000	0.49413	0.655000	0.94253	GCA	G|0.825;C|0.175	0.175	strong		0.383	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation	C	35956391	G	C	35956391	5	2	23	1	0	0	0	0	0	0	1	0	15457	1333	46	4	3978	4	SYNRG	17	35956391	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60268	35956391	45238819	3895	20351										
MLLT6	4302	hgsc.bcm.edu	37	chr17	36868976	36868976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagaacgccttaagcagaaGcacaagaagcggcctgagtc	11	10	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:36868976G>A	ENST00000325718.7	+	8	844	c.753G>A	c.(751-753)aaG>aaA	p.K251K	MLLT6_ENST00000378137.5_Silent_p.K251K|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	251					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TTAAGCAGAAGCACAAGAAGC	0.587			T	MLL	AL																																p.K251K		Atlas-SNP	.		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	.	MLLT6	80	.	0			c.G753A						PASS	.						108	104	105					17																	36868976		2203	4300	6503	SO:0001819	synonymous_variant	4302	exon8			GCAGAAGCACAAG		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.753G>A	17.37:g.36868976G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	123	34	0.276423	NM_005937	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	CCDS11327.1																																																																																			.	.	none		0.587	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		A	36868976	G	A	36868976	2	1	23	1	0	0	0	0	0	0	0	1	9630	962	34	2		2	MLLT6	17	36868976	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	912585	36868976	44326234	3896	20352										
LASP1	3927	hgsc.bcm.edu	37	chr17	37070658	37070658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagccagagcgtcgggattcAcaggacggcagcagctaccg	15	12	1	1	rs525989	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:37070658A>G	ENST00000318008.6	+	5	769	c.438A>G	c.(436-438)tcA>tcG	p.S146S	LASP1_ENST00000433206.2_Silent_p.S90S|LASP1_ENST00000435347.3_Silent_p.S146S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	146					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GTCGGGATTCACAGGACGGCA	0.627			T	MLL	AML								G|||	3389	0.676717	0.9175	0.5519	5008	,	,		14614	0.5933		0.6471	False		,,,				2504	0.5562				p.S146S		Atlas-SNP	.		Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	LASP1,colon,carcinoma,0,3	LASP1	24	3	0			c.A438G						PASS	.	G		3809,595	250.9+/-257.8	1657,495,50	27	33	31		438	0.4	0.6	17	dbSNP_83	31	5638,2962	443.3+/-360.3	1872,1894,534	no	coding-synonymous	LASP1	NM_006148.2		3529,2389,584	GG,GA,AA		34.4419,13.5104,27.3531		146/262	37070658	9447,3557	2202	4300	6502	SO:0001819	synonymous_variant	3927	exon5			GGATTCACAGGAC		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.438A>G	17.37:g.37070658A>G		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	201	197	0.980099	NM_006148	B4DGQ0|Q96ED2|Q96IG0	Silent	SNP	ENST00000318008.6	37	CCDS11331.1																																																																																			A|0.285;G|0.715	0.715	strong		0.627	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		G	37070658	A	G	37070658	2	3	23	1	0	0	0	0	0	0	0	1	8637	146	6	2		2	LASP1	17	37070658	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	201682	37070658	44124552	3897	20353										
FBXO47	494188	hgsc.bcm.edu	37	chr17	37093510	37093510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catgtacaagatggaacaaaTtcaaaaagcttctgtcatct	6	8	4	1	rs113358400	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:37093510T>C	ENST00000378079.2	-	11	1476	c.1277A>G	c.(1276-1278)aAt>aGt	p.N426S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	426										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGGAACAAATTCAAAAAGCT	0.363													T|||	35	0.00698882	0.0008	0.0144	5008	,	,		15990	0.0		0.0239	False		,,,				2504	0.0				p.N426S		Atlas-SNP	.											.	FBXO47	34	.	0			c.A1277G						PASS	.	T	SER/ASN	36,4370	40.0+/-72.8	0,36,2167	127	111	116		1277	4.8	1	17	dbSNP_132	116	256,8344	99.9+/-161.4	3,250,4047	yes	missense	FBXO47	NM_001008777.2	46	3,286,6214	CC,CT,TT		2.9767,0.8171,2.2451	benign	426/453	37093510	292,12714	2203	4300	6503	SO:0001583	missense	494188	exon11			AACAAATTCAAAA		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1277A>G	17.37:g.37093510T>C	ENSP00000367319:p.Asn426Ser	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	110	51	0.463636	NM_001008777	B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	CCDS32639.1	23	0.010531135531135532	0	0.0	7	0.019337016574585635	0	0.0	16	0.021108179419525065	T	14.00	2.405097	0.42613	0.008171	0.029767	ENSG00000204952	ENST00000378079	T	0.59502	0.26	5.88	4.81	0.61882	.	0.203730	0.50627	N	0.000112	T	0.19366	0.0465	L	0.29908	0.895	0.40423	D	0.979864	B	0.28350	0.208	B	0.20577	0.03	T	0.10965	-1.0607	10	0.33940	T	0.23	-5.6902	10.6903	0.45867	0.0:0.0748:0.0:0.9252	.	426	Q5MNV8	FBX47_HUMAN	S	426	ENSP00000367319:N426S	ENSP00000367319:N426S	N	-	2	0	FBXO47	34347036	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.816000	0.55658	1.066000	0.40716	0.528000	0.53228	AAT	T|0.981;C|0.019	0.019	strong		0.363	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		C	37093510	T	C	37093510	3	2	23	1	0	0	0	0	1	0	0	0	5756	1493	52	2	85	2	FBXO47	17	37093510	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22852	37093510	44101700	3898	20354										
CDK12	51755	hgsc.bcm.edu	37	chr17	37627387	37627387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctagaaaagagaacagttcAgtagaggctaaggattcagg	12	6	2	3	rs56158954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:37627387A>G	ENST00000447079.4	+	2	1335	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	CDK12_ENST00000430627.2_Silent_p.S434S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	434					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGAACAGTTCAGTAGAGGCTA	0.428			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A|||	28	0.00559105	0.0	0.0115	5008	,	,		17944	0.0		0.0179	False		,,,				2504	0.002				p.S434S		Atlas-SNP	.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	CDK12,NS,carcinoma,0,1	CDK12	161	1	0			c.A1302G						PASS	.	A	,	21,4385	28.1+/-56.4	0,21,2182	68	69	69		1302,1302	2.7	1	17	dbSNP_129	69	170,8430	77.8+/-140.4	1,168,4131	no	coding-synonymous,coding-synonymous	CDK12	NM_015083.1,NM_016507.2	,	1,189,6313	GG,GA,AA		1.9767,0.4766,1.4686	,	434/1482,434/1491	37627387	191,12815	2203	4300	6503	SO:0001819	synonymous_variant	51755	exon2			CAGTTCAGTAGAG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1302A>G	17.37:g.37627387A>G		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	59	33	0.559322	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	CCDS11337.1																																																																																			A|0.987;G|0.013	0.013	strong		0.428	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37627387	A	G	37627387	2	3	23	1	0	0	0	0	0	0	0	1	3128	175	7	3		3	CDK12	17	37627387	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	533877	37627387	43567823	3899	20355										
CDC6	990	hgsc.bcm.edu	37	chr17	38457151	38457151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatcccaagtcatctcagaaGttgatggtaacaggatgacc	9	9	2	3	rs13706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38457151G>A	ENST00000209728.4	+	10	1792	c.1321G>A	c.(1321-1323)Gtt>Att	p.V441I	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	441			V -> I (in dbSNP:rs13706). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CATCTCAGAAGTTGATGGTAA	0.428													G|||	1402	0.279952	0.5348	0.183	5008	,	,		21220	0.3482		0.1113	False		,,,				2504	0.1074				p.V441I		Atlas-SNP	.											.	CDC6	53	.	0			c.G1321A	GRCh37	CM065057	CDC6	M	rs13706	PASS	.	G	ILE/VAL	2014,2392	561.4+/-380.7	479,1056,668	217	194	202		1321	3.8	1	17	dbSNP_52	202	950,7650	208.7+/-250.1	57,836,3407	yes	missense	CDC6	NM_001254.3	29	536,1892,4075	AA,AG,GG		11.0465,45.7104,22.7895	possibly-damaging	441/561	38457151	2964,10042	2203	4300	6503	SO:0001583	missense	990	exon10			TCAGAAGTTGATG	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1321G>A	17.37:g.38457151G>A	ENSP00000209728:p.Val441Ile	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	235	119	0.506383	NM_001254	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	608	0.2783882783882784	255	0.5182926829268293	62	0.1712707182320442	215	0.3758741258741259	76	0.10026385224274406	G	19.42	3.823558	0.71143	0.457104	0.110465	ENSG00000094804	ENST00000209728	T	0.52983	0.64	5.96	3.82	0.43975	.	0.185081	0.46442	N	0.000289	T	0.00012	0.0000	L	0.54908	1.71	0.24597	P	0.99379435	P	0.44578	0.838	B	0.44224	0.444	T	0.49670	-0.8915	9	0.17369	T	0.5	-11.9661	10.4299	0.44400	0.204:0.0:0.796:0.0	rs13706;rs1048815;rs2230629;rs3188865;rs17852245;rs57349852;rs13706	441	Q99741	CDC6_HUMAN	I	441	ENSP00000209728:V441I	ENSP00000209728:V441I	V	+	1	0	CDC6	35710677	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.003000	0.57061	1.539000	0.49286	0.655000	0.94253	GTT	G|0.734;A|0.266	0.266	strong		0.428	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			A	38457151	G	A	38457151	3	1	23	1	0	0	0	0	1	0	0	0	3083	1029	36	2	1355	2	CDC6	17	38457151	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	829764	38457151	42738059	3900	20356										
TOP2A	7153	hgsc.bcm.edu	37	chr17	38546274	38546274	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagagtcagaatcatcagaAgtggatggcttccttttgcg	11	7	3	3	rs17680289	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38546274A>C	ENST00000423485.1	-	34	4568	c.4410T>G	c.(4408-4410)acT>acG	p.T1470T	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1470					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)	AATCATCAGAAGTGGATGGCT	0.433													A|||	34	0.00678914	0.0015	0.0101	5008	,	,		17725	0.0		0.0209	False		,,,				2504	0.0041				p.T1470T		Atlas-SNP	.											.	TOP2A	124	.	0			c.T4410G						PASS	.	A		13,3797		0,13,1892	69	66	67		4410	0.4	0.8	17	dbSNP_123	67	163,8085		1,161,3962	no	coding-synonymous	TOP2A	NM_001067.3		1,174,5854	CC,CA,AA		1.9762,0.3412,1.4596		1470/1532	38546274	176,11882	1905	4124	6029	SO:0001819	synonymous_variant	7153	exon34			ATCAGAAGTGGAT		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.4410T>G	17.37:g.38546274A>C		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	166	87	0.524096	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	CCDS45672.1																																																																																			A|0.988;C|0.012	0.012	strong		0.433	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			C	38546274	A	C	38546274	2	2	23	1	0	0	0	0	0	0	0	1	16362	59	3	5		5	TOP2A	17	38546274	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	89123	38546274	42648936	3901	20357										
TOP2A	7153	hgsc.bcm.edu	37	chr17	38564363	38564363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggataagcgtacactcagtGgagtttcggccccctaaaat	10	10	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38564363G>A	ENST00000423485.1	-	12	1514	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	452					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)	TACACTCAGTGGAGTTTCGGC	0.403																																					p.S452S		Atlas-SNP	.											.	TOP2A	124	.	0			c.C1356T						PASS	.						39	37	37					17																	38564363		1832	4080	5912	SO:0001819	synonymous_variant	7153	exon12			CTCAGTGGAGTTT		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.1356C>T	17.37:g.38564363G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	58	27	0.465517	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	CCDS45672.1																																																																																			.	.	none		0.403	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			A	38564363	G	A	38564363	2	1	23	1	0	0	0	0	0	0	0	1	16362	1335	47	2		2	TOP2A	17	38564363	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18089	38564363	42630847	3902	20358										
TNS4	84951	hgsc.bcm.edu	37	chr17	38643385	38643385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagcagctccaggttgaacGgagttctggtgtcctggggt	16	8	1	1	rs8071312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38643385G>A	ENST00000254051.6	-	4	1349	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	397					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CAGGTTGAACGGAGTTCTGGT	0.597													G|||	276	0.0551118	0.1498	0.0346	5008	,	,		17508	0.001		0.0447	False		,,,				2504	0.0082				p.S397S		Atlas-SNP	.											.	TNS4	72	.	0			c.C1191T						PASS	.	G		649,3757	279.0+/-274.6	48,553,1602	175	185	181		1191	-1.5	0.1	17	dbSNP_116	181	349,8251	118.1+/-177.6	8,333,3959	no	coding-synonymous	TNS4	NM_032865.5		56,886,5561	AA,AG,GG		4.0581,14.7299,7.6734		397/716	38643385	998,12008	2203	4300	6503	SO:0001819	synonymous_variant	84951	exon4			TTGAACGGAGTTC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1191C>T	17.37:g.38643385G>A		Somatic	212	1	0.00471698		WXS	Illumina HiSeq	Phase_I	277	138	0.498195	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	CCDS11368.1																																																																																			G|0.921;A|0.079	0.079	strong		0.597	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		A	38643385	G	A	38643385	2	1	23	1	0	0	0	0	0	0	0	1	16342	1103	39	1		1	TNS4	17	38643385	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	79022	38643385	42551825	3903	20359										
KRT24	192666	hgsc.bcm.edu	37	chr17	38855721	38855721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctccatcgagcaggcggcGgtaggtctcgatctccacct	11	15	3	0	rs148215930		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38855721G>A	ENST00000264651.2	-	6	1392	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	446	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCAGGCGGCGGTAGGTCTCG	0.473													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17677	0.0		0.0	False		,,,				2504	0.0				p.R446C	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											KRT24,NS,carcinoma,+1,1	KRT24	60	1	0			c.C1336T						scavenged	.	A	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	148	147	147		1336	3.6	1	17	dbSNP_134	147	0,8600	1.2+/-3.3	0,0,4300	yes	missense	KRT24	NM_019016.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	446/526	38855721	2,13004	2203	4300	6503	SO:0001583	missense	192666	exon6			GGCGGCGGTAGGT		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1336C>T	17.37:g.38855721G>A	ENSP00000264651:p.Arg446Cys	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	197	2	0.0101523	NM_019016	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	g	14.00	2.406008	0.42715	4.54E-4	0.0	ENSG00000167916	ENST00000264651	D	0.94828	-3.53	5.62	3.61	0.41365	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.89434	0.6714	L	0.49126	1.545	0.44595	D	0.997566	P	0.37276	0.589	B	0.30105	0.111	D	0.84520	0.0627	9	0.29301	T	0.29	.	8.3607	0.32357	0.135:0.0:0.7387:0.1263	.	446	Q2M2I5	K1C24_HUMAN	C	446	ENSP00000264651:R446C	ENSP00000264651:R446C	R	-	1	0	KRT24	36109247	0.999000	0.42202	0.999000	0.59377	0.889000	0.51656	0.807000	0.27140	0.723000	0.32274	-0.185000	0.12909	CGC	G|1.000;A|0.000	0.000	weak		0.473	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		A	38855721	G	A	38855721	3	1	23	1	0	0	0	0	1	0	0	0	8461	1116	39	1	253	1	KRT24	17	38855721	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	212336	38855721	42339489	3904	20360										
KRT28	162605	hgsc.bcm.edu	37	chr17	38955173	38955173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttctgtcacttactttaGcctgaaatcatcagcagcca	5	12	5	1	rs7222207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38955173G>A	ENST00000306658.7	-	2	594	c.529C>T	c.(529-531)Cta>Tta	p.L177L		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACTTACTTTAGCCTGAAATCA	0.318													G|||	661	0.131989	0.0711	0.1801	5008	,	,		15102	0.0377		0.2306	False		,,,				2504	0.1759				p.L177L	Melanoma(19;789 869 15380 26882 39836)	Atlas-SNP	.											.	KRT28	65	.	0			c.C529T						PASS	.	G		448,3958	210.5+/-231.0	30,388,1785	106	107	107		529	3.3	1	17	dbSNP_116	107	1964,6634	343.5+/-324.9	219,1526,2554	no	coding-synonymous	KRT28	NM_181535.3		249,1914,4339	AA,AG,GG		22.8425,10.168,18.5481		177/465	38955173	2412,10592	2203	4299	6502	SO:0001819	synonymous_variant	162605	exon2			ACTTTAGCCTGAA	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.529C>T	17.37:g.38955173G>A		Somatic	290	1	0.00344828		WXS	Illumina HiSeq	Phase_I	267	123	0.460674	NM_181535		Silent	SNP	ENST00000306658.7	37	CCDS11376.1																																																																																			G|0.838;A|0.162	0.162	strong		0.318	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		A	38955173	G	A	38955173	2	1	23	1	0	0	0	0	0	0	0	1	8465	962	34	2		2	KRT28	17	38955173	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	99452	38955173	42240037	3905	20361										
KRT10	3858	hgsc.bcm.edu	37	chr17	38978462	38978462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaaagcctcctccaaagcCgcctccaccaaagccgcctc	5	21	0	0	rs77919366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:38978462C>T	ENST00000269576.5	-	1	385	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	126	Gly-rich.|Head.		G -> S (in dbSNP:rs77919366). {ECO:0000269|PubMed:7512983}.		cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)	p.G126S(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cctccaaagccgcctccaCCA	0.557													C|||	665	0.132788	0.0703	0.1816	5008	,	,		11883	0.0377		0.2296	False		,,,				2504	0.181				p.G126S		Atlas-SNP	.											KRT10,NS,carcinoma,0,1	KRT10	56	1	1	Substitution - Missense(1)	prostate(1)	c.G376A						scavenged	.	C	,,,SER/GLY	440,3964	209.8+/-230.5	29,382,1791	54	47	50		,,,376	-0.9	0.5	17	dbSNP_131	50	1968,6632	336.7+/-322.0	221,1526,2553	yes	intron,intron,intron,missense	KRT10,TMEM99	NM_001195386.1,NM_001195387.1,NM_145274.3,NM_000421.3	,,,56	250,1908,4344	TT,TC,CC		22.8837,9.9909,18.5174	,,,benign	,,,126/585	38978462	2408,10596	2202	4300	6502	SO:0001583	missense	3858	exon1			CAAAGCCGCCTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.376G>A	17.37:g.38978462C>T	ENSP00000269576:p.Gly126Ser	Somatic	128	1	0.0078125		WXS	Illumina HiSeq	Phase_I	105	51	0.485714	NM_000421	Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	CCDS11377.1	302	0.1382783882783883	32	0.06504065040650407	71	0.19613259668508287	17	0.02972027972027972	182	0.24010554089709762	C	7.168	0.586981	0.13749	0.099909	0.228837	ENSG00000186395	ENST00000269576	D	0.82433	-1.61	0.445	-0.891	0.10573	.	0.536646	0.15796	N	0.244207	T	0.00039	0.0001	L	0.39898	1.24	0.58432	P	5.999999999950489E-6	B	0.17268	0.021	B	0.04013	0.001	T	0.02484	-1.1152	8	0.39692	T	0.17	.	.	.	.	.	126	P13645	K1C10_HUMAN	S	126	ENSP00000269576:G126S	ENSP00000269576:G126S	G	-	1	0	KRT10	36231988	0.002000	0.14202	0.500000	0.27589	0.782000	0.44232	0.081000	0.14823	-0.330000	0.08514	0.372000	0.22366	GGC	C|0.838;T|0.162	0.162	strong		0.557	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		T	38978462	C	T	38978462	3	4	23	1	0	0	0	0	1	0	0	0	8448	652	23	1	1410	1	KRT10	17	38978462	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	23289	38978462	42216748	3906	20362										
KRT40	125115	hgsc.bcm.edu	37	chr17	39135207	39135207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccaggttatcgatcagacActgaatttgggccagctggg	12	10	1	2	rs386797018|rs150812789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39135207A>G	ENST00000398486.2	-	8	1205	c.1045T>C	c.(1045-1047)Tgt>Cgt	p.C349R	KRT40_ENST00000377755.4_Missense_Mutation_p.C349R	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	349	Coil 2.|Rod.			C -> R (in Ref. 1; CAH10353). {ECO:0000305}.		intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCGATCAGACACTGAATTTGG	0.582													A|||	1082	0.216054	0.0628	0.317	5008	,	,		16221	0.251		0.2425	False		,,,				2504	0.2883				p.C349R		Atlas-SNP	.											KRT40,NS,carcinoma,+2,1	KRT40	27	1	0			c.T1045C						scavenged	.	A	ARG/CYS	340,4062	169.8+/-200.3	12,316,1873	90	99	96		1045	3.2	1	17	dbSNP_134	96	1951,6639	334.5+/-321.0	205,1541,2549	yes	missense	KRT40	NM_182497.3	180	217,1857,4422	GG,GA,AA		22.7125,7.7238,17.6339	benign	349/432	39135207	2291,10701	2201	4295	6496	SO:0001583	missense	125115	exon8			TCAGACACTGAAT	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1045T>C	17.37:g.39135207A>G	ENSP00000381500:p.Cys349Arg	Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	132	69	0.522727	NM_182497	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	465	0.2129120879120879	29	0.05894308943089431	111	0.30662983425414364	135	0.23601398601398602	190	0.25065963060686014	A	11.18	1.562779	0.27915	0.077238	0.227125	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.87729	-2.29;-2.29	5.56	3.25	0.37280	Filament (1);	0.000000	0.36519	N	0.002560	T	0.00012	0.0000	N	0.26092	0.79	0.22156	P	0.999322654	B	0.14012	0.009	B	0.17979	0.02	T	0.03112	-1.1071	9	0.24483	T	0.36	.	13.2354	0.59967	0.4595:0.5404:0.0:0.0	.	349	Q6A162	K1C40_HUMAN	R	349	ENSP00000366984:C349R;ENSP00000381500:C349R	ENSP00000366984:C349R	C	-	1	0	KRT40	36388733	0.000000	0.05858	0.998000	0.56505	0.967000	0.64934	-0.302000	0.08221	0.438000	0.26450	0.533000	0.62120	TGT	A|0.787;G|0.213	0.213	strong		0.582	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		G	39135207	A	G	39135207	3	3	23	1	0	0	0	0	1	0	0	0	8478	159	6	2	258	2	KRT40	17	39135207	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	156745	39135207	42060003	3907	20363										
KRT40	125115	hgsc.bcm.edu	37	chr17	39138692	39138692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcagcctctaacagctggCgaagggacagttcactctcg	11	12	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39138692C>A	ENST00000398486.2	-	5	714	c.554G>T	c.(553-555)cGc>cTc	p.R185L	KRT40_ENST00000377755.4_Missense_Mutation_p.R185L	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	185	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TAACAGCTGGCGAAGGGACAG	0.517																																					p.R185L		Atlas-SNP	.											KRT40,colon,carcinoma,-1,1	KRT40	27	1	0			c.G554T						scavenged	.						80	79	79					17																	39138692		2011	4193	6204	SO:0001583	missense	125115	exon5			AGCTGGCGAAGGG	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.554G>T	17.37:g.39138692C>A	ENSP00000381500:p.Arg185Leu	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	82	2	0.0243902	NM_182497	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531212	0.64972	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.91894	-2.93;-2.93	5.18	2.1	0.27182	Filament (1);	0.000000	0.34156	N	0.004217	D	0.96682	0.8917	H	0.96208	3.785	0.33401	D	0.577308	P	0.45240	0.854	D	0.63957	0.92	D	0.97240	0.9890	10	0.87932	D	0	.	9.902	0.41353	0.0:0.7108:0.0:0.2892	.	185	Q6A162	K1C40_HUMAN	L	185	ENSP00000366984:R185L;ENSP00000381500:R185L	ENSP00000366984:R185L	R	-	2	0	KRT40	36392218	0.931000	0.31567	0.993000	0.49108	0.594000	0.36715	1.976000	0.40579	0.295000	0.22570	0.591000	0.81541	CGC	.	.	none		0.517	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		A	39138692	C	A	39138692	3	1	23	1	0	0	0	0	1	0	0	0	8478	768	27	4	761	4	KRT40	17	39138692	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3485	39138692	42056518	3908	20364										
KRTAP3-3	85293	hgsc.bcm.edu	37	chr17	39150167	39150167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaggaagcaggtgggcacGcagggctgaggaatgtggca	19	7	0	1	rs12452295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39150167G>A	ENST00000391586.1	-	1	218	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	61						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C61C(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				AGGTGGGCACGCAGGGCTGAG	0.632													G|||	1210	0.241613	0.0567	0.3141	5008	,	,		18403	0.3234		0.2823	False		,,,				2504	0.3139				p.C61C		Atlas-SNP	.											KRTAP3-3,NS,carcinoma,0,1	KRTAP3-3	11	1	1	Substitution - coding silent(1)	prostate(1)	c.C183T						PASS	.	G		407,3999	201.8+/-224.7	22,363,1818	106	77	87		183	3.5	1	17	dbSNP_120	87	2540,6048	415.2+/-351.7	370,1800,2124	no	coding-synonymous	KRTAP3-3	NM_033185.2		392,2163,3942	AA,AG,GG		29.5762,9.2374,22.6797		61/99	39150167	2947,10047	2203	4294	6497	SO:0001819	synonymous_variant	85293	exon1			GGGCACGCAGGGC	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.183C>T	17.37:g.39150167G>A		Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	352	186	0.528409	NM_033185	Q52LP0|Q6NTD4	Silent	SNP	ENST00000391586.1	37	CCDS32643.1																																																																																			G|0.777;A|0.223	0.223	strong		0.632	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			A	39150167	G	A	39150167	2	1	23	1	0	0	0	0	0	0	0	1	8547	1079	38	1		1	KRTAP3-3	17	39150167	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11475	39150167	42045043	3909	20365										
KRTAP3-3	85293	hgsc.bcm.edu	37	chr17	39150284	39150284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacagcggcaggatttgtcAgaggagcagatggtggtggc	17	8	1	2	rs2010201	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39150284A>G	ENST00000391586.1	-	1	101	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	22	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				AGGATTTGTCAGAGGAGCAGA	0.582													A|||	2379	0.47504	0.6377	0.4784	5008	,	,		17574	0.5		0.2913	False		,,,				2504	0.4162				p.S22S		Atlas-SNP	.											.	KRTAP3-3	11	.	0			c.T66C						PASS	.	A		2510,1896	625.1+/-394.5	720,1070,413	90	90	90		66	-11.2	0	17	dbSNP_92	90	2274,6318	374.7+/-337.5	295,1684,2317	no	coding-synonymous	KRTAP3-3	NM_033185.2		1015,2754,2730	GG,GA,AA		26.4665,43.0322,36.8057		22/99	39150284	4784,8214	2203	4296	6499	SO:0001819	synonymous_variant	85293	exon1			TTTGTCAGAGGAG	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.66T>C	17.37:g.39150284A>G		Somatic	263	1	0.00380228		WXS	Illumina HiSeq	Phase_I	224	119	0.53125	NM_033185	Q52LP0|Q6NTD4	Silent	SNP	ENST00000391586.1	37	CCDS32643.1																																																																																			A|0.598;G|0.402	0.402	strong		0.582	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			G	39150284	A	G	39150284	2	3	23	1	0	0	0	0	0	0	0	1	8547	175	7	3		3	KRTAP3-3	17	39150284	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	117	39150284	42044926	3910	20366										
KRTAP3-2	83897	hgsc.bcm.edu	37	chr17	39156027	39156027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcaggcagactccacagcGgcaggatttgtcggaggagc	17	10	0	1	rs3829598	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39156027G>A	ENST00000391587.1	-	1	111	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	27	3 X 5 AA repeats of C-C-X(3).		R -> C (in dbSNP:rs3829598).			keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				ACTCCACAGCGGCAGGATTTG	0.612													.|||	872	0.174121	0.0265	0.2709	5008	,	,		18323	0.2629		0.169	False		,,,				2504	0.2188				p.R27C		Atlas-SNP	.											.	KRTAP3-2	11	.	0			c.C79T						PASS	.	G	CYS/ARG	191,4215	120.4+/-158.0	6,179,2018	71	81	78		79	2.6	1	17	dbSNP_107	78	1495,7097	281.3+/-295.0	129,1237,2930	no	missense	KRTAP3-2	NM_031959.2	180	135,1416,4948	AA,AG,GG		17.3999,4.335,12.9712	probably-damaging	27/99	39156027	1686,11312	2203	4296	6499	SO:0001583	missense	83897	exon1			CACAGCGGCAGGA	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.79C>T	17.37:g.39156027G>A	ENSP00000375429:p.Arg27Cys	Somatic	240	1	0.00416667		WXS	Illumina HiSeq	Phase_I	245	136	0.555102	NM_031959		Missense_Mutation	SNP	ENST00000391587.1	37	CCDS32644.1	372	0.17032967032967034	13	0.026422764227642278	91	0.2513812154696133	140	0.24475524475524477	128	0.16886543535620052	G	15.53	2.862235	0.51482	0.04335	0.173999	ENSG00000212900	ENST00000391587	T	0.33865	1.39	5.76	2.56	0.30785	.	0.000000	0.51477	D	0.000100	T	0.00039	0.0001	.	.	.	0.22199	P	0.99929956	D	0.89917	1.0	D	0.87578	0.998	T	0.04307	-1.0961	8	0.87932	D	0	.	11.8174	0.52218	0.0:0.0:0.5368:0.4632	rs3829598	27	Q9BYR7	KRA32_HUMAN	C	27	ENSP00000375429:R27C	ENSP00000375429:R27C	R	-	1	0	KRTAP3-2	36409553	1.000000	0.71417	0.959000	0.39883	0.472000	0.32918	2.055000	0.41345	0.312000	0.23038	-0.318000	0.08688	CGC	G|0.865;A|0.135	0.135	strong		0.612	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			A	39156027	G	A	39156027	3	1	23	1	0	0	0	0	1	0	0	0	8546	1116	39	1	221	1	KRTAP3-2	17	39156027	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5743	39156027	42039183	3911	20367										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197176	39197176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcaacaggactgtccacaGtaggatgggcggcagcagga	16	10	0	0	rs3815561	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39197176G>A	ENST00000306271.4	-	1	537	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	158						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGTCCACAGTAGGATGGGC	0.627													g|||	1112	0.222045	0.1967	0.2622	5008	,	,		17623	0.2817		0.1332	False		,,,				2504	0.2577				p.Y158Y		Atlas-SNP	.											.	KRTAP1-1	23	.	0			c.C474T						PASS	.	G		725,3381		53,619,1381	31	35	34		474	5.1	1	17	dbSNP_107	34	1275,7081		98,1079,3001	no	coding-synonymous	KRTAP1-1	NM_030967.2		151,1698,4382	AA,AG,GG		15.2585,17.6571,16.0488		158/178	39197176	2000,10462	2053	4178	6231	SO:0001819	synonymous_variant	81851	exon1			TCCACAGTAGGAT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.474C>T	17.37:g.39197176G>A		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	239	130	0.543933	NM_030967	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																			G|1.000;|0.000	.	weak		0.627	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197176	G	A	39197176	2	1	23	1	0	0	0	0	0	0	0	1	8502	1024	36	2		2	KRTAP1-1	17	39197176	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41149	39197176	41998034	3912	20368										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	12	15	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V		Atlas-SNP	.											KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	23	1	1	Substitution - Missense(1)	NS(1)	c.A346G						PASS	.						22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	135	13	0.0962963	NM_030967	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC	.	.	none		0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		C	39197304	T	C	39197304	3	2	23	1	0	0	0	0	1	0	0	0	8502	1406	49	2	191	2	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	128	39197304	41997906	3913	20369										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197499	39197499	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatccacagaagctggtctGgcagcagcttggctggcagc	13	11	1	1	rs3213755	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39197499G>A	ENST00000306271.4	-	1	214	c.151C>T	c.(151-153)Cag>Tag	p.Q51*		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	51			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AAGCTGGTCTGGCAGCAGCTT	0.612																																					p.Q51X		Atlas-SNP	.											.	KRTAP1-1	23	.	0			c.C151T	GRCh37	CM067999	KRTAP1-1	M	rs3213755	PASS	.	G	stop/GLN	743,3287		55,633,1327	75	86	83		151	3.6	1	17	dbSNP_106	83	1292,7138		100,1092,3023	yes	stop-gained	KRTAP1-1	NM_030967.2		155,1725,4350	AA,AG,GG		15.3262,18.4367,16.3323		51/178	39197499	2035,10425	2015	4215	6230	SO:0001587	stop_gained	81851	exon1			TGGTCTGGCAGCA	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.151C>T	17.37:g.39197499G>A	ENSP00000305975:p.Gln51*	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	188	84	0.446809	NM_030967	A6NC32|Q96S60|Q96S67	Nonsense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	426	0.19505494505494506	87	0.17682926829268292	84	0.23204419889502761	151	0.263986013986014	104	0.13720316622691292	G	21.1	4.100620	0.76983	0.184367	0.153262	ENSG00000188581	ENST00000306271;ENST00000543328	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999401316	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.1567	0.25641	0.1206:0.0:0.8794:0.0	rs3213755	.	.	.	X	51;41	.	ENSP00000305975:Q51X	Q	-	1	0	KRTAP1-1	36451025	0.237000	0.23815	1.000000	0.80357	0.931000	0.56810	-0.153000	0.10144	2.339000	0.79563	0.650000	0.86243	CAG	G|0.804;A|0.196	0.196	strong		0.612	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197499	G	A	39197499	4	1	23	1	0	0	0	0	0	1	0	0	8502	1357	47	2	386	2	KRTAP1-1	17	39197499	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	195	39197499	41997711	3914	20370										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcctgcagcaggtggtctINSggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192				p.Q82delinsRPSCCQ		Atlas-Indel	.											KRTAP4-5,NS,carcinoma,+1,1	KRTAP4-5	34	1	0			c.245_246insGCCCCAGCTGCTGCC						PASS	.																																			SO:0001652	inframe_insertion	85289	exon1			.	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	52	34	0.653846	NM_033188		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.	.	none		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GGCAGCAGCTGGGGC	39305776	-	GGCAGCAGCTGGGGC	39305775	7	5	23	1	0	1	1	0	0	0	0	0	8554	1580	55	0	304	0	KRTAP4-5	17	39305775	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	108276	39305775	41889435	3915	20371										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324237	39324237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaggtggtcctgcagcagCtgggtttgcagcagctggag	17	9	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39324237C>G	ENST00000391356.2	-	1	187	c.188G>C	c.(187-189)aGc>aCc	p.S63T		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	63	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cctgcagcagctgggtttgca	0.627																																					p.S63T		Atlas-SNP	.											KRTAP4-3,NS,carcinoma,-1,1	KRTAP4-3	40	1	0			c.G188C						scavenged	.						3	5	4					17																	39324237		1480	3536	5016	SO:0001583	missense	85290	exon1			CAGCAGCTGGGTT	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.188G>C	17.37:g.39324237C>G	ENSP00000375151:p.Ser63Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	87	2	0.0229885	NM_033187		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	0.578	-0.838330	0.02692	.	.	ENSG00000196156	ENST00000391356	T	0.01335	5.0	4.13	-2.75	0.05914	.	.	.	.	.	T	0.01061	0.0035	N	0.20881	0.62	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.47573	-0.9107	9	0.14252	T	0.57	.	8.0489	0.30566	0.3482:0.2735:0.3783:0.0	.	63	Q9BYR4	KRA43_HUMAN	T	63	ENSP00000375151:S63T	ENSP00000375151:S63T	S	-	2	0	KRTAP4-3	36577763	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.870000	0.00346	-0.385000	0.07833	-2.956000	0.00083	AGC	.	.	none		0.627	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324237	C	G	39324237	3	3	23	1	0	0	0	0	1	0	0	0	8552	797	28	4	403	4	KRTAP4-3	17	39324237	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18462	39324237	41870973	3916	20372										
KRT32	3882	hgsc.bcm.edu	37	chr17	39622068	39622068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatcagctcctccttcaggGactcaacctgggcctccagg	9	16	3	0	rs2071561	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39622068G>T	ENST00000225899.3	-	3	768	c.665C>A	c.(664-666)tCc>tAc	p.S222Y	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	222	Coil 1B.|Rod.		S -> Y (in dbSNP:rs2071561).		epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCCTTCAGGGACTCAACCTG	0.617													G|||	2502	0.499601	0.2413	0.5187	5008	,	,		18777	0.6369		0.4761	False		,,,				2504	0.7178				p.S222Y		Atlas-SNP	.											.	KRT32	57	.	0			c.C665A						PASS	.	G	TYR/SER	1268,3138	434.1+/-343.8	181,906,1116	82	70	74		665	4.1	1	17	dbSNP_96	74	4288,4312	576.5+/-390.4	1072,2144,1084	yes	missense	KRT32	NM_002278.3	144	1253,3050,2200	TT,TG,GG		49.8605,28.7789,42.7187	probably-damaging	222/449	39622068	5556,7450	2203	4300	6503	SO:0001583	missense	3882	exon3			TTCAGGGACTCAA	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.665C>A	17.37:g.39622068G>T	ENSP00000225899:p.Ser222Tyr	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	147	59	0.401361	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	1016	0.4652014652014652	121	0.2459349593495935	205	0.5662983425414365	339	0.5926573426573427	351	0.4630606860158311	G	17.95	3.513733	0.64522	0.287789	0.498605	ENSG00000108759	ENST00000225899	D	0.90844	-2.74	5.1	4.12	0.48240	Filament (1);	0.000000	0.38720	N	0.001589	T	0.00012	0.0000	H	0.95816	3.725	0.30879	P	0.731614	D	0.58620	0.983	D	0.72338	0.977	T	0.10222	-1.0639	9	0.87932	D	0	.	9.1393	0.36894	0.0786:0.1455:0.7759:0.0	rs2071561;rs52794180;rs60448298;rs2071561	222	Q14532	K1H2_HUMAN	Y	222	ENSP00000225899:S222Y	ENSP00000225899:S222Y	S	-	2	0	KRT32	36875594	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.600000	0.24104	1.285000	0.44548	0.558000	0.71614	TCC	G|0.553;T|0.445	0.445	strong		0.617	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		T	39622068	G	T	39622068	3	4	23	1	0	0	0	0	1	0	0	0	8468	1174	41	4	701	4	KRT32	17	39622068	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	297831	39622068	41573142	3917	20373										
KRT32	3882	hgsc.bcm.edu	37	chr17	39623363	39623363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggagatgccactggctgccTggcaggaactggatagatag	15	9	0	2	rs3744786	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:39623363T>C	ENST00000225899.3	-	1	318	c.215A>G	c.(214-216)cAg>cGg	p.Q72R	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	72	Head.		Q -> R (in dbSNP:rs3744786).		epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ACTGGCTGCCTGGCAGGAACT	0.602													C|||	1630	0.325479	0.1672	0.3963	5008	,	,		18029	0.3413		0.3032	False		,,,				2504	0.4959				p.Q72R		Atlas-SNP	.											.	KRT32	57	.	0			c.A215G						PASS	.	C	ARG/GLN	852,3554	728.1+/-409.9	77,698,1428	42	45	44		215	-2.1	0	17	dbSNP_107	44	2815,5785	656.2+/-401.3	466,1883,1951	yes	missense	KRT32	NM_002278.3	43	543,2581,3379	CC,CT,TT		32.7326,19.3373,28.1947	benign	72/449	39623363	3667,9339	2203	4300	6503	SO:0001583	missense	3882	exon1			GCTGCCTGGCAGG	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.215A>G	17.37:g.39623363T>C	ENSP00000225899:p.Gln72Arg	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	118	56	0.474576	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	634	0.2902930402930403	85	0.17276422764227642	155	0.4281767955801105	175	0.30594405594405594	219	0.28891820580474936	C	0.807	-0.753225	0.03041	0.193373	0.327326	ENSG00000108759	ENST00000225899	T	0.81163	-1.46	4.87	-2.1	0.07210	.	0.966650	0.08412	N	0.949751	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	9	0.23891	T	0.37	.	10.2254	0.43222	0.0:0.4491:0.0:0.5509	rs3744786;rs57183809;rs3744786	72	Q14532	K1H2_HUMAN	R	72	ENSP00000225899:Q72R	ENSP00000225899:Q72R	Q	-	2	0	KRT32	36876889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.471000	0.06631	-0.904000	0.03876	-1.977000	0.00459	CAG	C|0.286;N|0.000	0.286	strong		0.602	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		C	39623363	T	C	39623363	3	2	23	1	0	0	0	0	1	0	0	0	8468	1580	55	3	1159	3	KRT32	17	39623363	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1295	39623363	41571847	3918	20374										
KAT2A	2648	hgsc.bcm.edu	37	chr17	40265751	40265751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcggcagtactcgctgtcCggggggttgtactcgcgaca	15	12	0	0	rs147642400	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:40265751C>T	ENST00000225916.5	-	18	2483	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	810	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACTCGCTGTCCGGGGGGTTGT	0.612													C|||	7	0.00139776	0.0008	0.0029	5008	,	,		17799	0.0		0.004	False		,,,				2504	0.0				p.P810P		Atlas-SNP	.											.	KAT2A	54	.	0			c.G2430A						PASS	.	C		1,4405	2.1+/-5.4	0,1,2202	34	35	34		2430	-10.1	0.6	17	dbSNP_134	34	54,8546	32.3+/-84.9	0,54,4246	no	coding-synonymous	KAT2A	NM_021078.2		0,55,6448	TT,TC,CC		0.6279,0.0227,0.4229		810/838	40265751	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	2648	exon18			GCTGTCCGGGGGG	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2430G>A	17.37:g.40265751C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	54	15	0.277778	NM_021078	Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	CCDS11417.1																																																																																			C|0.998;T|0.002	0.002	strong		0.612	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		T	40265751	C	T	40265751	2	4	23	1	0	0	0	0	0	0	0	1	7981	639	23	1		1	KAT2A	17	40265751	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	642388	40265751	40929459	3919	20375										
ATP6V0A1	535	hgsc.bcm.edu	37	chr17	40632729	40632729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttatcattttcttccaaggCgatcagctgaaaaacagagt	7	8	3	2	rs41283429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:40632729C>T	ENST00000343619.4	+	8	801	c.678C>T	c.(676-678)ggC>ggT	p.G226G	ATP6V0A1_ENST00000393829.2_Silent_p.G226G|ATP6V0A1_ENST00000585525.1_Silent_p.G183G|ATP6V0A1_ENST00000546249.1_Silent_p.G226G|ATP6V0A1_ENST00000537728.1_Silent_p.G183G|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Silent_p.G233G	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	226					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTTCCAAGGCGATCAGCTGA	0.443													C|||	88	0.0175719	0.0076	0.0259	5008	,	,		16990	0.0		0.0368	False		,,,				2504	0.0235				p.G233G		Atlas-SNP	.											.	ATP6V0A1	67	.	0			c.C699T						PASS	.	C	,,	52,4354	52.3+/-87.9	0,52,2151	95	93	94		699,678,678	-6.6	1	17	dbSNP_127	94	348,8252	118.1+/-177.6	8,332,3960	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP6V0A1	NM_001130020.1,NM_001130021.1,NM_005177.3	,,	8,384,6111	TT,TC,CC		4.0465,1.1802,3.0755	,,	233/839,226/838,226/832	40632729	400,12606	2203	4300	6503	SO:0001819	synonymous_variant	535	exon8			CCAAGGCGATCAG	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.678C>T	17.37:g.40632729C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	72	38	0.527778	NM_001130020	B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	CCDS45684.1																																																																																			C|0.969;T|0.031	0.031	strong		0.443	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		T	40632729	C	T	40632729	2	4	23	1	0	0	0	0	0	0	0	1	1168	755	27	1		1	ATP6V0A1	17	40632729	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	366978	40632729	40562481	3920	20376										
MLX	6945	hgsc.bcm.edu	37	chr17	40722162	40722162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttccaggagctgtcagcGtgtgtcttcagctggatcga	13	10	3	0	rs1474040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:40722162G>A	ENST00000246912.4	+	7	854	c.801G>A	c.(799-801)gcG>gcA	p.A267A	MLX_ENST00000435881.2_Silent_p.A213A|MLX_ENST00000346833.4_Silent_p.A183A	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	267					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGCTGTCAGCGTGTGTCTTCA	0.532													G|||	484	0.0966454	0.0113	0.1816	5008	,	,		21738	0.0		0.2783	False		,,,				2504	0.0644				p.A267A	GBM(121;657 1601 4665 24731 34640)	Atlas-SNP	.											MLX,colon,carcinoma,+1,1	MLX	17	1	0			c.G801A						scavenged	.	G	,,	207,4199	127.8+/-164.7	6,195,2002	109	91	97		801,639,549	-4	0.9	17	dbSNP_88	97	2264,6336	384.5+/-341.1	295,1674,2331	no	coding-synonymous,coding-synonymous,coding-synonymous	MLX	NM_170607.2,NM_198204.1,NM_198205.1	,,	301,1869,4333	AA,AG,GG		26.3256,4.6981,18.9989	,,	267/299,213/245,183/215	40722162	2471,10535	2203	4300	6503	SO:0001819	synonymous_variant	6945	exon7			GTCAGCGTGTGTC	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.801G>A	17.37:g.40722162G>A		Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	180	68	0.377778	NM_170607	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Silent	SNP	ENST00000246912.4	37	CCDS11430.1																																																																																			G|0.827;A|0.173	0.173	strong		0.532	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		A	40722162	G	A	40722162	2	1	23	1	0	0	0	0	0	0	0	1	9635	1132	40	1		1	MLX	17	40722162	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	89433	40722162	40473048	3921	20377										
AOC3	8639	hgsc.bcm.edu	37	chr17	41003914	41003914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catagaccagatgatcttcaAcagagagctgccccaggctt	9	12	2	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:41003914A>G	ENST00000308423.2	+	1	714	c.554A>G	c.(553-555)aAc>aGc	p.N185S	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	185					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATGATCTTCAACAGAGAGCTG	0.602																																					p.N185S	NSCLC(3;192 220 10664 11501 16477)	Atlas-SNP	.											AOC3,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	AOC3	88	1	0			c.A554G						scavenged	.						31	30	30					17																	41003914		2203	4297	6500	SO:0001583	missense	8639	exon1			TCTTCAACAGAGA	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.554A>G	17.37:g.41003914A>G	ENSP00000312326:p.Asn185Ser	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	195	3	0.0153846	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	1.663	-0.510892	0.04231	.	.	ENSG00000131471	ENST00000308423	T	0.16597	2.33	4.25	4.25	0.50352	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	1.338580	0.04529	N	0.386019	T	0.14399	0.0348	L	0.40543	1.245	0.24276	N	0.995226	B	0.02656	0.0	B	0.12837	0.008	T	0.41034	-0.9531	10	0.09338	T	0.73	.	5.699	0.17871	0.7393:0.1722:0.0885:0.0	.	185	Q16853	AOC3_HUMAN	S	185	ENSP00000312326:N185S	ENSP00000312326:N185S	N	+	2	0	AOC3	38257440	0.000000	0.05858	0.090000	0.20809	0.898000	0.52572	0.877000	0.28106	1.912000	0.55364	0.402000	0.26972	AAC	.	.	none		0.602	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		G	41003914	A	G	41003914	3	3	23	1	0	0	0	0	1	0	0	0	728	43	2	2	556	2	AOC3	17	41003914	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	281752	41003914	40191296	3922	20378										
AOC3	8639	hgsc.bcm.edu	37	chr17	41004625	41004625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttttggagtcccaggcccCcaagacaatacgtgatgcct	9	14	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:41004625C>T	ENST00000308423.2	+	1	1425	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	422					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCCCAGGCCCCCAAGACAATA	0.582																																					p.P422L	NSCLC(3;192 220 10664 11501 16477)	Atlas-SNP	.											AOC3,NS,neuroblastoma,0,1	AOC3	88	1	0			c.C1265T						scavenged	.						85	76	79					17																	41004625		2203	4300	6503	SO:0001583	missense	8639	exon1			AGGCCCCCAAGAC	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1265C>T	17.37:g.41004625C>T	ENSP00000312326:p.Pro422Leu	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	316	4	0.0126582	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142695	0.57044	.	.	ENSG00000131471	ENST00000308423	T	0.04015	3.73	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.191114	0.45867	D	0.000325	T	0.18635	0.0447	M	0.87381	2.88	0.80722	D	1	P	0.50528	0.936	P	0.54629	0.757	T	0.00277	-1.1854	10	0.59425	D	0.04	.	13.0901	0.59162	0.1604:0.8396:0.0:0.0	.	422	Q16853	AOC3_HUMAN	L	422	ENSP00000312326:P422L	ENSP00000312326:P422L	P	+	2	0	AOC3	38258151	0.030000	0.19436	0.913000	0.36048	0.485000	0.33311	1.933000	0.40153	2.591000	0.87537	0.591000	0.81541	CCC	.	.	none		0.582	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		T	41004625	C	T	41004625	3	4	23	1	0	0	0	0	1	0	0	0	728	623	22	2	1267	2	AOC3	17	41004625	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	711	41004625	40190585	3923	20379										
BRCA1	672	hgsc.bcm.edu	37	chr17	41246481	41246481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctctgagcatggcagtttcTgcttattccattcttttctc	6	11	4	1	rs80357796|rs1799950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:41246481T>C	ENST00000357654.3	-	10	1185	c.1067A>G	c.(1066-1068)cAg>cGg	p.Q356R	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.Q356R|BRCA1_ENST00000309486.4_Missense_Mutation_p.Q60R|BRCA1_ENST00000493795.1_Missense_Mutation_p.Q309R|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.Q356R|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.Q356R	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	356			Q -> R (common polymorphism; dbSNP:rs1799950). {ECO:0000269|PubMed:7894493, ECO:0000269|Ref.5, ECO:0000269|Ref.6}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCAGTTTCTGCTTATTCCA	0.408			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T|||	109	0.0217652	0.003	0.0461	5008	,	,		22610	0.0		0.0596	False		,,,				2504	0.0133				p.Q356R		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.A1067G	GRCh37	CM014322	BRCA1	M	rs1799950	PASS	.	T	ARG/GLN,ARG/GLN,,,ARG/GLN	45,4361	47.5+/-82.1	0,45,2158	238	222	227	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1067,926,,,1067	3.7	0	17	dbSNP_89	227	552,8048	151.6+/-206.3	18,516,3766	yes	missense,missense,intron,intron,missense	BRCA1	NM_007294.3,NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3	43,43,,,43	18,561,5924	CC,CT,TT		6.4186,1.0213,4.5902	possibly-damaging,possibly-damaging,,,possibly-damaging	356/1864,309/1817,,,356/1885	41246481	597,12409	2203	4300	6503	SO:0001583	missense	672	exon10	Familial Cancer Database		AGTTTCTGCTTAT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1067A>G	17.37:g.41246481T>C	ENSP00000350283:p.Gln356Arg	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	157	81	0.515924	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	61|61	0.027930402930402932|0.027930402930402932	2|2	0.0040650406504065045|0.0040650406504065045	18|18	0.049723756906077346|0.049723756906077346	0|0	0.0|0.0	41|41	0.05408970976253298|0.05408970976253298	T|T	9.735|9.735	1.163374|1.163374	0.21538|0.21538	0.010213|0.010213	0.064186|0.064186	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123|ENST00000473961	D;D;D;D;D;D;D;D;D;D|.	0.91843|.	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92|.	4.81|4.81	3.71|3.71	0.42584|0.42584	.|.	0.255608|.	0.28247|.	N|.	0.016049|.	T|T	0.29556|0.29556	0.0737|0.0737	H|H	0.95187|0.95187	3.635|3.635	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|.	0.76494|.	0.997;0.997;0.987;0.999;0.998;0.995|.	D;D;D;D;D;D|.	0.76575|.	0.933;0.933;0.944;0.988;0.988;0.969|.	T|T	0.53344|0.53344	-0.8452|-0.8452	10|5	0.66056|.	D|.	0.02|.	.|.	10.444|10.444	0.44483|0.44483	0.0:0.0:0.1705:0.8295|0.0:0.0:0.1705:0.8295	rs1799950;rs4986851;rs17846597;rs17859679;rs52822238;rs1799950|rs1799950;rs4986851;rs17846597;rs17859679;rs52822238;rs1799950	356;315;356;356;356;356|.	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2|.	.;.;.;.;BRCA1_HUMAN;.|.	R|G	356;356;356;356;60;356;309;356;330;60;356|222	ENSP00000350283:Q356R;ENSP00000326002:Q356R;ENSP00000246907:Q356R;ENSP00000310938:Q60R;ENSP00000418960:Q356R;ENSP00000418775:Q309R;ENSP00000419274:Q356R;ENSP00000419988:Q330R;ENSP00000418986:Q60R;ENSP00000419103:Q356R|.	ENSP00000310938:Q60R|.	Q|R	-|-	2|1	0|2	BRCA1|BRCA1	38500007|38500007	0.996000|0.996000	0.38824|0.38824	0.045000|0.045000	0.18777|0.18777	0.005000|0.005000	0.04900|0.04900	2.364000|2.364000	0.44187|0.44187	0.939000|0.939000	0.37446|0.37446	0.533000|0.533000	0.62120|0.62120	CAG|AGA	T|0.960;C|0.040	0.040	strong		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41246481	T	C	41246481	3	2	23	1	0	0	0	0	1	0	0	0	1498	1580	55	3	4650	3	BRCA1	17	41246481	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	241856	41246481	39948729	3924	20380										
ITGA2B	3674	hgsc.bcm.edu	37	chr17	42453065	42453065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatgggggaggggctggggAtgggcagcccccagtccacc	19	11	0	0	rs5911	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:42453065A>C	ENST00000262407.5	-	26	2652	c.2621T>G	c.(2620-2622)aTc>aGc	p.I874S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.I874S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	874			I -> S (alloantigen HPA-3B; dbSNP:rs5911). {ECO:0000269|PubMed:10391209}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGGCTGGGGATGGGCAGCCC	0.682													G|||	2005	0.400359	0.4334	0.3646	5008	,	,		14408	0.4563		0.3887	False		,,,				2504	0.3354				p.I874S		Atlas-SNP	.											ITGA2B,NS,carcinoma,0,1	ITGA2B	88	1	0			c.T2621G	GRCh37	CM994214	ITGA2B	M	rs5911	PASS	.	G	SER/ILE	1714,2676		332,1050,813	20	20	20	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2621	3.4	0.7	17	dbSNP_52	20	3211,5373		621,1969,1702	yes	missense	ITGA2B	NM_000419.3	142	953,3019,2515	CC,CA,AA		37.4068,39.0433,37.9605	benign	874/1040	42453065	4925,8049	2195	4292	6487	SO:0001583	missense	3674	exon26			CTGGGGATGGGCA		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2621T>G	17.37:g.42453065A>C	ENSP00000262407:p.Ile874Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	883	0.4043040293040293	213	0.4329268292682927	129	0.356353591160221	238	0.4160839160839161	303	0.3997361477572559	G	11.70	1.717176	0.30413	0.390433	0.374068	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.38401	1.14;1.14	3.42	3.42	0.39159	Integrin alpha-2 (1);	0.248312	0.21041	U	0.081164	T	0.00012	0.0000	N	0.02011	-0.69	0.21740	P	0.99956448	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	9	0.11182	T	0.66	.	6.9702	0.24644	0.1262:0.0:0.8738:0.0	rs5911;rs57227599;rs5911	472;874	Q59FA8;P08514	.;ITA2B_HUMAN	S	874	ENSP00000262407:I874S;ENSP00000340536:I874S	ENSP00000262407:I874S	I	-	2	0	ITGA2B	39808591	0.005000	0.15991	0.721000	0.30653	0.185000	0.23345	1.255000	0.32909	1.033000	0.39918	-0.320000	0.08662	ATC	A|0.621;C|0.379	0.379	strong		0.682	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			C	42453065	A	C	42453065	3	2	23	1	0	0	0	0	1	0	0	0	7876	333	12	5	518	5	ITGA2B	17	42453065	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1206584	42453065	38742145	3925	20381										
FZD2	2535	hgsc.bcm.edu	37	chr17	42636477	42636477	+	Frame_Shift_Del	DEL	C	C	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctctacacagtgcccgccaCcatcgtcatcgcttgctact							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:42636477delC	ENST00000315323.3	+	1	1553	c.1421delC	c.(1420-1422)accfs	p.T474fs		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	474					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCCCGCCACCATCGTCATC	0.632																																					p.T474fs		Pindel,Atlas-Indel	.											.	FZD2	81	.	0			c.1420delA						PASS	.						73	59	64					17																	42636477		2203	4300	6503	SO:0001589	frameshift_variant	2535	exon1			.	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1421delC	17.37:g.42636477delC	ENSP00000323901:p.Thr474fs	Somatic	96	.	.		WXS	Illumina HiSeq	Phase_I	90	19	0.211	NM_001466	Q0VG82	Frame_Shift_Del	DEL	ENST00000315323.3	37	CCDS11484.1																																																																																			.	.	none		0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		-	42636477	C	-	42636477	7	5	23	1	0	1	0	1	0	0	0	0	6130	507	18	0	1423	0	FZD2	17	42636477	Frame_Shift_Del	DEL	C	TCGA-GR-7353-01A-11D-2210-10	183412	42636477	38558733	3926	20382										
GFAP	2670	hgsc.bcm.edu	37	chr17	42992714	42992714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggagaaatccacccgggtCgggagtggagggggcattcg	19	8	0	1	rs2229011	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:42992714C>T	ENST00000253408.5	-	1	206	c.141G>A	c.(139-141)ccG>ccA	p.P47P	GFAP_ENST00000435360.2_Silent_p.P47P|GFAP_ENST00000586793.1_Silent_p.P47P|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	47	Head.		P -> L (in dbSNP:rs57474185). {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:15732097}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CCACCCGGGTCGGGAGTGGAG	0.662													C|||	103	0.0205671	0.0008	0.0375	5008	,	,		15949	0.0		0.0586	False		,,,				2504	0.0174				p.P47P		Atlas-SNP	.											.	GFAP	88	.	0			c.G141A						PASS	.	C	,,	40,4366		0,40,2163	22	26	25		141,141,141	-9.6	0	17	dbSNP_98	25	428,8170		9,410,3880	no	coding-synonymous,coding-synonymous,coding-synonymous	GFAP	NM_001131019.2,NM_001242376.1,NM_002055.4	,,	9,450,6043	TT,TC,CC		4.9779,0.9079,3.5989	,,	47/432,47/439,47/433	42992714	468,12536	2203	4299	6502	SO:0001819	synonymous_variant	2670	exon1			CCGGGTCGGGAGT	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.141G>A	17.37:g.42992714C>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	109	53	0.486239	NM_001131019	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	CCDS11491.1																																																																																			C|0.969;T|0.031	0.031	strong		0.662	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		T	42992714	C	T	42992714	2	4	23	1	0	0	0	0	0	0	0	1	6337	871	31	1		1	GFAP	17	42992714	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	356237	42992714	38202496	3927	20383										
KIF18B	146909	hgsc.bcm.edu	37	chr17	43004436	43004436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccttcatggtgaacagggGcacaggtgccctggggaggg	18	10	1	1	rs61739617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:43004436G>A	ENST00000593135.1	-	14	2384	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S	KIF18B_ENST00000438933.2_Missense_Mutation_p.P775S|KIF18B_ENST00000590129.1_Missense_Mutation_p.P784S|KIF18B_ENST00000587309.1_Missense_Mutation_p.P775S|KIF18B_ENST00000339151.4_Missense_Mutation_p.P766S	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	775					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGAACAGGGGCACAGGTGCC	0.637													G|||	119	0.023762	0.0045	0.0274	5008	,	,		18938	0.0		0.0716	False		,,,				2504	0.0225				p.P775S		Atlas-SNP	.											.	KIF18B	63	.	0			c.C2323T						PASS	.	G	SER/PRO	87,3959		1,85,1937	29	32	31		2296	0.3	0	17	dbSNP_129	31	594,7746		23,548,3599	yes	missense	KIF18B	NM_001080443.1	74	24,633,5536	AA,AG,GG		7.1223,2.1503,5.4981	benign	766/856	43004436	681,11705	2023	4170	6193	SO:0001583	missense	146909	exon14			ACAGGGGCACAGG		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2287C>T	17.37:g.43004436G>A	ENSP00000465992:p.Pro763Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	93	41	0.44086	NM_001264573	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	68	0.031135531135531136	4	0.008130081300813009	12	0.03314917127071823	0	0.0	52	0.06860158311345646	G	6.660	0.490236	0.12702	0.021503	0.071223	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74632	-0.84;-0.86	4.77	0.265	0.15612	.	.	.	.	.	T	0.15262	0.0368	L	0.56769	1.78	0.09310	N	1	B;B;B	0.34103	0.31;0.437;0.437	B;B;B	0.40444	0.176;0.329;0.329	T	0.39035	-0.9633	9	0.39692	T	0.17	.	3.0678	0.06220	0.3388:0.0:0.4714:0.1898	.	775;772;784	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	S	775;766;775	ENSP00000412798:P775S;ENSP00000341466:P766S	ENSP00000341466:P766S	P	-	1	0	KIF18B	40359962	0.012000	0.17670	0.008000	0.14137	0.002000	0.02628	0.279000	0.18771	-0.044000	0.13491	-0.136000	0.14681	CCC	G|0.965;A|0.035	0.035	strong		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		A	43004436	G	A	43004436	3	1	23	1	0	0	0	0	1	0	0	0	8281	1203	42	2	282	2	KIF18B	17	43004436	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11722	43004436	38190774	3928	20384										
NMT1	4836	hgsc.bcm.edu	37	chr17	43176804	43176804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtccctaaacccacggaagCtgattgaagtgaagttctcc	10	11	1	3	rs2239923	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:43176804C>T	ENST00000592782.1	+	9	1047	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	NMT1_ENST00000258960.2_Silent_p.L306L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	306					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCCACGGAAGCTGATTGAAGT	0.557											OREG0024470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1122	0.224042	0.059	0.2017	5008	,	,		19639	0.2748		0.2992	False		,,,				2504	0.3333				p.L306L		Atlas-SNP	.											.	NMT1	31	.	0			c.C916T						PASS	.	C		406,4000	199.8+/-223.2	13,380,1810	130	109	116		916	3.3	1	17	dbSNP_98	116	2487,6113	409.7+/-349.9	343,1801,2156	no	coding-synonymous	NMT1	NM_021079.3		356,2181,3966	TT,TC,CC		28.9186,9.2147,22.2436		306/497	43176804	2893,10113	2203	4300	6503	SO:0001819	synonymous_variant	4836	exon8			CGGAAGCTGATTG		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.916C>T	17.37:g.43176804C>T		Somatic	315	0	0	914	WXS	Illumina HiSeq	Phase_I	324	149	0.459877	NM_021079	A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	CCDS11494.1																																																																																			C|0.780;T|0.220	0.220	strong		0.557	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		T	43176804	C	T	43176804	2	4	23	1	0	0	0	0	0	0	0	1	10503	796	28	2		2	NMT1	17	43176804	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	172368	43176804	38018406	3929	20385										
HEXIM1	10614	hgsc.bcm.edu	37	chr17	43226887	43226887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgccgccggcagaagtggaAccgacgcccgaggccgagct	15	16	0	1	rs12051846	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:43226887A>G	ENST00000332499.2	+	1	2204	c.330A>G	c.(328-330)gaA>gaG	p.E110E	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	110					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAGAAGTGGAACCGACGCCCG	0.677											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	996	0.198882	0.0477	0.1945	5008	,	,		13173	0.2183		0.2734	False		,,,				2504	0.3098				p.E110E		Atlas-SNP	.											.	HEXIM1	25	.	0			c.A330G						PASS	.	A		296,3994		6,284,1855	7	9	8		330	-0.4	0.1	17	dbSNP_120	8	1844,6602		199,1446,2578	no	coding-synonymous	HEXIM1	NM_006460.2		205,1730,4433	GG,GA,AA		21.8328,6.8998,16.8028		110/360	43226887	2140,10596	2145	4223	6368	SO:0001819	synonymous_variant	10614	exon1			AGTGGAACCGACG	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.330A>G	17.37:g.43226887A>G		Somatic	85	0	0	914	WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_006460	B2R8Y5	Silent	SNP	ENST00000332499.2	37	CCDS11495.1																																																																																			A|0.803;G|0.197	0.197	strong		0.677	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		G	43226887	A	G	43226887	2	3	23	1	0	0	0	0	0	0	0	1	7076	40	2	2		2	HEXIM1	17	43226887	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	50083	43226887	37968323	3930	20386										
FMNL1	752	hgsc.bcm.edu	37	chr17	43316360	43316360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaacattgtggtacattcGgtggagaacatgaacttccg	10	8	1	2	rs12940312	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:43316360G>A	ENST00000331495.3	+	11	1344	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	FMNL1_ENST00000587489.1_5'Flank|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Silent_p.S336S	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	336	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGTACATTCGGTGGAGAACA	0.537													G|||	565	0.112819	0.0061	0.0879	5008	,	,		23216	0.1339		0.1083	False		,,,				2504	0.2577				p.S336S	GBM(164;1247 1997 8702 11086 51972)	Atlas-SNP	.											.	FMNL1	78	.	0			c.G1008A						PASS	.	G		90,4316	75.7+/-113.9	1,88,2114	219	154	176		1008	-8.5	0.3	17	dbSNP_121	176	917,7683	204.8+/-247.4	50,817,3433	no	coding-synonymous	FMNL1	NM_005892.3		51,905,5547	AA,AG,GG		10.6628,2.0427,7.7426		336/1101	43316360	1007,11999	2203	4300	6503	SO:0001819	synonymous_variant	752	exon11			ACATTCGGTGGAG	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1008G>A	17.37:g.43316360G>A		Somatic	300	0	0		WXS	Illumina HiSeq	Phase_I	289	142	0.491349	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	CCDS11497.1																																																																																			G|0.919;A|0.081	0.081	strong		0.537	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		A	43316360	G	A	43316360	2	1	23	1	0	0	0	0	0	0	0	1	5951	1103	39	1		1	FMNL1	17	43316360	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	89473	43316360	37878850	3931	20387										
CRHR1	1394	hgsc.bcm.edu	37	chr17	43884402	43884402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccttctggggctgaacccCgtctctgcctccctccagga	9	18	2	1	rs12936511	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:43884402C>T	ENST00000398285.3	+	2	60	c.60C>T	c.(58-60)ccC>ccT	p.P20P	CRHR1_ENST00000314537.5_Silent_p.P20P|CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000577353.1_Silent_p.P20P|CRHR1_ENST00000352855.5_Silent_p.P20P|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000293493.7_5'UTR	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	20					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCTGAACCCCGTCTCTGCCT	0.612													c|||	84	0.0167732	0.0038	0.0288	5008	,	,		19215	0.0109		0.0427	False		,,,				2504	0.0051				p.P20P	Ovarian(110;57 1568 10207 38216 49865)	Atlas-SNP	.											.	CRHR1	48	.	0			c.C60T						PASS	.	T	,,,	51,4155		1,49,2053	66	72	70		60,60,60,60	-7.3	0.3	17	dbSNP_121	70	359,8125		8,343,3891	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CRHR1	NM_001145146.1,NM_001145147.1,NM_001145148.1,NM_004382.4	,,,	9,392,5944	TT,TC,CC		4.2315,1.2126,3.2309	,,,	20/445,20/376,20/402,20/416	43884402	410,12280	2103	4242	6345	SO:0001819	synonymous_variant	1394	exon2			GAACCCCGTCTCT	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.60C>T	17.37:g.43884402C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	69	33	0.478261	NM_001145148	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	CCDS45712.1																																																																																			C|0.970;T|0.030	0.030	strong		0.612	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			T	43884402	C	T	43884402	2	4	23	1	0	0	0	0	0	0	0	1	3871	639	23	1		1	CRHR1	17	43884402	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	568042	43884402	37310808	3932	20388										
KIAA1267	284058	hgsc.bcm.edu	37	chr17	44109474	44109474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcactggctaagtgtcgcGgagtgtcccgagccacaggg	14	13	1	0	rs7220988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:44109474G>A	ENST00000262419.6	-	14	3499	c.3029C>T	c.(3028-3030)cCg>cTg	p.P1010L	KANSL1_ENST00000432791.1_Missense_Mutation_p.P1010L|KANSL1_ENST00000574590.1_Missense_Mutation_p.P1010L|KANSL1_ENST00000393476.3_Missense_Mutation_p.P304L|KANSL1_ENST00000572904.1_Missense_Mutation_p.P1010L|KANSL1_ENST00000575318.1_Missense_Mutation_p.P946L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1010	Sufficient for interaction with KAT8.		P -> L (in dbSNP:rs7220988). {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TAAGTGTCGCGGAGTGTCCCG	0.597													G|||	1567	0.312899	0.2186	0.2651	5008	,	,		13953	0.1062		0.3579	False		,,,				2504	0.6411				p.P1010L		Atlas-SNP	.											.	.	.	.	0			c.C3029T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO	1093,3313	393.5+/-328.9	121,851,1231	62	60	60		3026,3029,3029	4.6	1	17	dbSNP_116	60	3412,5188	502.6+/-375.7	702,2008,1590	yes	missense,missense,missense	KIAA1267	NM_001193465.1,NM_001193466.1,NM_015443.3	98,98,98	823,2859,2821	AA,AG,GG		39.6744,24.8071,34.6379	benign,benign,benign	1009/1105,1010/1106,1010/1106	44109474	4505,8501	2203	4300	6503	SO:0001583	missense	284058	exon14			TGTCGCGGAGTGT	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3029C>T	17.37:g.44109474G>A	ENSP00000262419:p.Pro1010Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	122	58	0.47541	NM_001193466	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	537	0.24587912087912087	110	0.22357723577235772	105	0.2900552486187845	54	0.0944055944055944	268	0.35356200527704484	G	14.23	2.474360	0.43942	0.248071	0.396744	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.39997	1.05;1.05;1.05	5.72	4.63	0.57726	.	0.394200	0.25402	N	0.030934	T	0.00012	0.0000	N	0.02539	-0.55	0.33231	P	0.444067	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	0.42849	-0.9427	9	0.07990	T	0.79	-1.2731	6.9006	0.24281	0.807:0.0:0.193:0.0	rs7220988;rs17298984;rs52815397;rs60940197;rs7220988	278;341;1010;1010	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	1010;1010;304	ENSP00000262419:P1010L;ENSP00000387393:P1010L;ENSP00000377117:P304L	ENSP00000262419:P1010L	P	-	2	0	KIAA1267	41465321	0.949000	0.32298	0.984000	0.44739	0.979000	0.70002	3.997000	0.57016	0.995000	0.38917	0.561000	0.74099	CCG	G|0.694;A|0.306	0.306	strong		0.597	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		A	44109474	G	A	44109474	3	1	23	1	0	0	0	0	1	0	0	0	8219	1116	39	1	296	1	KIAA1267	17	44109474	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	225072	44109474	37085736	3933	20389										
CDC27	996	hgsc.bcm.edu	37	chr17	45232075	45232075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtggatggcacatcaattAcaggaggtgtattagtgtag	14	5	1	0	rs199711781		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45232075A>T	ENST00000066544.3	-	8	1013	c.920T>A	c.(919-921)gTa>gAa	p.V307E	CDC27_ENST00000531206.1_Missense_Mutation_p.V307E|CDC27_ENST00000527547.1_Missense_Mutation_p.V307E|CDC27_ENST00000446365.2_Missense_Mutation_p.V246E|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V307E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACATCAATTACAGGAGGTGT	0.378																																					p.V307E		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27	337	2	2	Substitution - Missense(2)	kidney(2)	c.T920A						scavenged	.						50	50	50					17																	45232075		2203	4300	6503	SO:0001583	missense	996	exon8			TCAATTACAGGAG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.920T>A	17.37:g.45232075A>T	ENSP00000066544:p.Val307Glu	Somatic	91	3	0.032967		WXS	Illumina HiSeq	Phase_I	101	4	0.039604	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973416	0.53614	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69040	-0.36;-0.35;-0.04;-0.37;0.63	5.92	5.92	0.95590	.	0.302185	0.32401	N	0.006159	T	0.43299	0.1241	N	0.08118	0	0.58432	D	0.99999	P;B;B;B	0.36465	0.554;0.255;0.341;0.089	B;B;B;B	0.27608	0.081;0.075;0.076;0.034	T	0.47861	-0.9084	10	0.30078	T	0.28	-36.9477	14.323	0.66499	1.0:0.0:0.0:0.0	.	246;307;307;307	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	307;307;246;307;307	ENSP00000066544:V307E;ENSP00000434614:V307E;ENSP00000392802:V246E;ENSP00000437339:V307E;ENSP00000432105:V307E	ENSP00000066544:V307E	V	-	2	0	CDC27	42587074	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.746000	0.74866	2.267000	0.75376	0.477000	0.44152	GTA	A|0.999;T|0.001	0.001	weak		0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45232075	A	T	45232075	3	4	23	1	0	0	0	0	1	0	0	0	3066	391	14	5	1620	5	CDC27	17	45232075	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1122601	45232075	35963135	3934	20390										
CDC27	996	hgsc.bcm.edu	37	chr17	45234713	45234713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgctaaagttctgtaaagaTgtgaatttaaatgtttggtc	9	3	1	2	rs139751753		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45234713T>C	ENST00000066544.3	-	6	606	c.513A>G	c.(511-513)acA>acG	p.T171T	CDC27_ENST00000531206.1_Silent_p.T171T|CDC27_ENST00000527547.1_Silent_p.T171T|CDC27_ENST00000446365.2_Silent_p.T110T|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.T171T(3)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCTGTAAAGATGTGAATTTAA	0.373																																					p.T171T		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27	337	2	3	Substitution - coding silent(3)	prostate(3)	c.A513G						scavenged	.						77	77	77					17																	45234713		2203	4300	6503	SO:0001819	synonymous_variant	996	exon6			TAAAGATGTGAAT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.513A>G	17.37:g.45234713T>C		Somatic	282	3	0.0106383		WXS	Illumina HiSeq	Phase_I	347	40	0.115274	NM_001114091	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																			.	.	weak		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45234713	T	C	45234713	2	2	23	1	0	0	0	0	0	0	0	1	3066	1451	51	2		2	CDC27	17	45234713	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2638	45234713	35960497	3935	20391										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000531206.1_Missense_Mutation_p.T167S|CDC27_ENST00000527547.1_Missense_Mutation_p.T167S|CDC27_ENST00000446365.2_Missense_Mutation_p.T106S|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	250	3	0.012		WXS	Illumina HiSeq	Phase_I	323	13	0.0402477	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	23	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	14	45234727	35960483	3936	20392										
KPNB1	3837	hgsc.bcm.edu	37	chr17	45734285	45734285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcctcacagtgtgtggcTggtattgcttgtgcagagat	13	8	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45734285T>C	ENST00000290158.4	+	4	749	c.342T>C	c.(340-342)gcT>gcC	p.A114A	KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000535458.2_5'UTR|KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	114					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGTGTGTGGCTGGTATTGCTT	0.468																																					p.H114H		Atlas-SNP	.											.	KPNB1	58	.	0			c.C342C						PASS	.						138	121	127					17																	45734285		2203	4300	6503	SO:0001819	synonymous_variant	3837	exon4			TGTGGCTGGTATT	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.342T>C	17.37:g.45734285T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	111	46	0.414414	NM_002265	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Silent	SNP	ENST00000290158.4	37	CCDS11513.1																																																																																			.	.	none		0.468	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		C	45734285	T	C	45734285	2	2	23	1	0	0	0	0	0	0	0	1	8435	1567	55	3		3	KPNB1	17	45734285	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	499558	45734285	35460925	3937	20393										
SP2	6668	hgsc.bcm.edu	37	chr17	45994044	45994044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggggccaatgtggtgaagCtgacaggtgggggcggcaat	20	7	0	2	rs2228253	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45994044C>T	ENST00000376741.4	+	3	744	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	203					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGTGGTGAAGCTGACAGGTGG	0.627													T|||	2844	0.567891	0.615	0.4813	5008	,	,		17333	0.7748		0.4622	False		,,,				2504	0.4611				p.L203L		Atlas-SNP	.											.	SP2	38	.	0			c.C607T						PASS	.	T		2579,1827	534.7+/-374.0	741,1097,365	84	72	76		607	4.4	1	17	dbSNP_98	76	3754,4846	617.1+/-396.6	825,2104,1371	no	coding-synonymous	SP2	NM_003110.5		1566,3201,1736	TT,TC,CC		43.6512,41.4662,48.6929		203/614	45994044	6333,6673	2203	4300	6503	SO:0001819	synonymous_variant	6668	exon3			GTGAAGCTGACAG		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.607C>T	17.37:g.45994044C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	34	0.395349	NM_003110	A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																			C|0.479;T|0.521	0.521	strong		0.627	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		T	45994044	C	T	45994044	2	4	23	1	0	0	0	0	0	0	0	1	14964	796	28	2		2	SP2	17	45994044	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	259759	45994044	35201166	3938	20394										
SP2	6668	hgsc.bcm.edu	37	chr17	45994094	45994094	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actctgcccgtcaacaacctTgtgaacgccagtgacaccgg	9	15	2	2	rs2228251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45994094T>C	ENST00000376741.4	+	3	794	c.657T>C	c.(655-657)ctT>ctC	p.L219L	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	219					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCAACAACCTTGTGAACGCCA	0.597													C|||	2845	0.568091	0.615	0.4813	5008	,	,		18037	0.7758		0.4622	False		,,,				2504	0.4611				p.L219L		Atlas-SNP	.											.	SP2	38	.	0			c.T657C						PASS	.	C		2581,1825	534.4+/-373.9	743,1095,365	76	75	75		657	-9.3	0.3	17	dbSNP_98	75	3755,4845	616.9+/-396.6	825,2105,1370	no	coding-synonymous	SP2	NM_003110.5		1568,3200,1735	CC,CT,TT		43.6628,41.4208,48.716		219/614	45994094	6336,6670	2203	4300	6503	SO:0001819	synonymous_variant	6668	exon3			CAACCTTGTGAAC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.657T>C	17.37:g.45994094T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	81	37	0.45679	NM_003110	A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																			T|0.467;C|0.533	0.533	strong		0.597	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		C	45994094	T	C	45994094	2	2	23	1	0	0	0	0	0	0	0	1	14964	1799	63	2		2	SP2	17	45994094	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	50	45994094	35201116	3939	20395										
SP2	6668	hgsc.bcm.edu	37	chr17	45994154	45994154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgaaagccccccaaccccGctgtctaagactaacaagaa	6	15	1	3	rs2229358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:45994154G>A	ENST00000376741.4	+	3	854	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	239					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCAACCCCGCTGTCTAAGA	0.607													G|||	2473	0.49381	0.3457	0.4625	5008	,	,		17625	0.7748		0.4602	False		,,,				2504	0.4611				p.P239P		Atlas-SNP	.											.	SP2	38	.	0			c.G717A						PASS	.	G		1622,2784	498.8+/-364.2	303,1016,884	82	87	85		717	-10.8	0	17	dbSNP_98	85	3732,4868	531.3+/-382.0	811,2110,1379	no	coding-synonymous	SP2	NM_003110.5		1114,3126,2263	AA,AG,GG		43.3953,36.8134,41.1656		239/614	45994154	5354,7652	2203	4300	6503	SO:0001819	synonymous_variant	6668	exon3			AACCCCGCTGTCT		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.717G>A	17.37:g.45994154G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	76	38	0.5	NM_003110	A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																			G|0.545;A|0.455	0.455	strong		0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		A	45994154	G	A	45994154	2	1	23	1	0	0	0	0	0	0	0	1	14964	1074	38	1		1	SP2	17	45994154	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60	45994154	35201056	3940	20396										
SKAP1	8631	hgsc.bcm.edu	37	chr17	46266849	46266849	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttcttgagctccttttacGatgtcttccattcctaaaag	6	10	2	1	rs66753385	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46266849G>A	ENST00000336915.6	-	5	363	c.294C>T	c.(292-294)atC>atT	p.I98I	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Silent_p.I98I	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	98					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTCCTTTTACGATGTCTTCCA	0.358													G|||	179	0.0357428	0.0129	0.0202	5008	,	,		21223	0.0556		0.0338	False		,,,				2504	0.0593				p.I98I		Atlas-SNP	.											.	SKAP1	41	.	0			c.C294T						PASS	.	G	,	69,4337	62.9+/-100.1	0,69,2134	157	133	141		294,294	0	0	17	dbSNP_130	141	323,8277	115.2+/-175.0	9,305,3986	no	coding-synonymous,coding-synonymous	SKAP1	NM_001075099.1,NM_003726.3	,	9,374,6120	AA,AG,GG		3.7558,1.566,3.014	,	98/359,98/360	46266849	392,12614	2203	4300	6503	SO:0001819	synonymous_variant	8631	exon5			TTTTACGATGTCT	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.294C>T	17.37:g.46266849G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	110	52	0.472727	NM_003726	D3DTV1|O15268	Silent	SNP	ENST00000336915.6	37	CCDS32674.1																																																																																			G|0.965;A|0.035	0.035	strong		0.358	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		A	46266849	G	A	46266849	2	1	23	1	0	0	0	0	0	0	0	1	14355	1048	37	1		1	SKAP1	17	46266849	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	272695	46266849	34928361	3941	20397										
SKAP1	8631	hgsc.bcm.edu	37	chr17	46474118	46474118	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgctgaggttctcattccGcaaaccttctgccagaaact	8	13	2	2	rs11079820	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46474118G>T	ENST00000336915.6	-	2	145	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	SKAP1_ENST00000584924.1_Silent_p.R26R	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	26					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTCTCATTCCGCAAACCTTCT	0.403													G|||	454	0.090655	0.1899	0.1556	5008	,	,		16367	0.003		0.0596	False		,,,				2504	0.0327				p.R26R		Atlas-SNP	.											.	SKAP1	41	.	0			c.C76A						PASS	.	G	,	737,3669	305.2+/-288.9	56,625,1522	151	158	156		76,76	2.4	1	17	dbSNP_120	156	524,8076	146.5+/-202.0	12,500,3788	no	coding-synonymous,coding-synonymous	SKAP1	NM_001075099.1,NM_003726.3	,	68,1125,5310	TT,TG,GG		6.093,16.7272,9.6955	,	26/359,26/360	46474118	1261,11745	2203	4300	6503	SO:0001819	synonymous_variant	8631	exon2			CATTCCGCAAACC	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.76C>A	17.37:g.46474118G>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	65	25	0.384615	NM_003726	D3DTV1|O15268	Silent	SNP	ENST00000336915.6	37	CCDS32674.1																																																																																			G|0.903;T|0.097	0.097	strong		0.403	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		T	46474118	G	T	46474118	2	4	23	1	0	0	0	0	0	0	0	1	14355	1086	38	4		4	SKAP1	17	46474118	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	207269	46474118	34721092	3942	20398										
HOXB1	3211	hgsc.bcm.edu	37	chr17	46607817	46607817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcataggccggtgcaaagctCgcggtctgctcgttcccata	12	13	1	0	rs7207109	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46607817C>T	ENST00000239174.6	-	1	542	c.450G>A	c.(448-450)gcG>gcA	p.A150A	HOXB1_ENST00000577092.1_Silent_p.A150A	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	150					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGCAAAGCTCGCGGTCTGCT	0.637													C|||	660	0.131789	0.1082	0.1225	5008	,	,		16178	0.0972		0.2048	False		,,,				2504	0.1309				p.A150A		Atlas-SNP	.											.	HOXB1	67	.	0			c.G450A						PASS	.	C		547,3859	248.1+/-256.1	32,483,1688	64	65	65		450	-4.2	0	17	dbSNP_116	65	1786,6814	321.2+/-315.0	184,1418,2698	no	coding-synonymous	HOXB1	NM_002144.3		216,1901,4386	TT,TC,CC		20.7674,12.4149,17.9379		150/302	46607817	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	3211	exon1			AAAGCTCGCGGTC		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.450G>A	17.37:g.46607817C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	135	134	0.992593	NM_002144	Q4VB03	Silent	SNP	ENST00000239174.6	37	CCDS32675.1																																																																																			C|0.838;T|0.162	0.162	strong		0.637	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			T	46607817	C	T	46607817	2	4	23	1	0	0	0	0	0	0	0	1	7299	871	31	1		1	HOXB1	17	46607817	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133699	46607817	34587393	3943	20399										
HOXB1	3211	hgsc.bcm.edu	37	chr17	46607958	46607958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagcctccgtctccttctgaTtgacccagagggtagtactg	10	12	2	3	rs12939811	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46607958T>A	ENST00000239174.6	-	1	401	c.309A>T	c.(307-309)caA>caT	p.Q103H	HOXB1_ENST00000577092.1_Missense_Mutation_p.Q103H	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	103			Q -> H (in dbSNP:rs12939811).		anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCCTTCTGATTGACCCAGAG	0.667													T|||	573	0.114417	0.0651	0.1023	5008	,	,		14669	0.0982		0.1928	False		,,,				2504	0.1258				p.Q103H		Atlas-SNP	.											.	HOXB1	67	.	0			c.A309T						PASS	.	T	HIS/GLN	343,4063	170.1+/-200.6	14,315,1874	63	66	65		309	-5.7	0	17	dbSNP_121	65	1621,6979	282.0+/-295.3	153,1315,2832	yes	missense	HOXB1	NM_002144.3	24	167,1630,4706	AA,AT,TT		18.8488,7.7848,15.1007	possibly-damaging	103/302	46607958	1964,11042	2203	4300	6503	SO:0001583	missense	3211	exon1			TTCTGATTGACCC		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.309A>T	17.37:g.46607958T>A	ENSP00000355140:p.Gln103His	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	35	11	0.314286	NM_002144	Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	248	0.11355311355311355	27	0.054878048780487805	34	0.09392265193370165	38	0.06643356643356643	149	0.19656992084432717	T	8.428	0.847945	0.17034	0.077848	0.188488	ENSG00000120094	ENST00000239174	D	0.89875	-2.58	4.37	-5.68	0.02436	.	0.000000	0.41712	D	0.000838	T	0.00328	0.0010	L	0.52011	1.625	0.80722	P	0.0	P	0.38642	0.641	B	0.34824	0.19	T	0.48525	-0.9028	9	0.62326	D	0.03	.	11.7967	0.52104	0.0:0.5455:0.3026:0.1518	rs12939811;rs52833084;rs12939811	103	P14653	HXB1_HUMAN	H	103	ENSP00000355140:Q103H	ENSP00000355140:Q103H	Q	-	3	2	HOXB1	43962957	0.003000	0.15002	0.000000	0.03702	0.737000	0.42083	-1.050000	0.03510	-1.633000	0.01539	-0.925000	0.02716	CAA	T|0.866;A|0.134	0.134	strong		0.667	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			A	46607958	T	A	46607958	3	1	23	1	0	0	0	0	1	0	0	0	7299	1490	52	5	604	5	HOXB1	17	46607958	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	141	46607958	34587252	3944	20400										
HOXB5	3215	hgsc.bcm.edu	37	chr17	46669730	46669730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccgtcgccgggtcaggtaGcggttgaagtggaactcctt	15	11	1	1	rs36049616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46669730G>T	ENST00000239151.5	-	2	929	c.651C>A	c.(649-651)cgC>cgA	p.R217R	HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	217					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGGTCAGGTAGCGGTTGAAGT	0.612													G|||	144	0.028754	0.0734	0.0346	5008	,	,		11348	0.0		0.0179	False		,,,				2504	0.0051				p.R217R		Atlas-SNP	.											.	HOXB5	20	.	0			c.C651A						PASS	.	G		301,4105	165.8+/-197.2	13,275,1915	105	105	105		651	4.2	1	17	dbSNP_126	105	301,8299	109.4+/-169.9	6,289,4005	no	coding-synonymous	HOXB5	NM_002147.3		19,564,5920	TT,TG,GG		3.5,6.8316,4.6286		217/270	46669730	602,12404	2203	4300	6503	SO:0001819	synonymous_variant	3215	exon2			CAGGTAGCGGTTG		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.651C>A	17.37:g.46669730G>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	203	76	0.374384	NM_002147	B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	CCDS11530.1																																																																																			G|0.960;T|0.040	0.040	strong		0.612	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			T	46669730	G	T	46669730	2	4	23	1	0	0	0	0	0	0	0	1	7304	958	34	4		4	HOXB5	17	46669730	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61772	46669730	34525480	3945	20401										
HOXB8	3218	hgsc.bcm.edu	37	chr17	46690777	46690777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatacctcgattcgccgcttAcgagtcagatagggattaaa	10	9	1	1	rs45441492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46690777A>G	ENST00000239144.4	-	2	753	c.519T>C	c.(517-519)cgT>cgC	p.R173R	HOXB8_ENST00000576562.1_Silent_p.R172R|HOXB7_ENST00000567101.2_Intron|HOXB7_ENST00000239165.7_5'Flank	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	173					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TTCGCCGCTTACGAGTCAGAT	0.557													G|||	304	0.0607029	0.1536	0.0519	5008	,	,		8833	0.001		0.0278	False		,,,				2504	0.0368				p.R173R		Atlas-SNP	.											.	HOXB8	26	.	0			c.T519C						PASS	.	G		658,3748	764.6+/-413.3	52,554,1597	106	101	102		519	3.1	1	17	dbSNP_127	102	459,8141	798.8+/-407.4	16,427,3857	no	coding-synonymous	HOXB8	NM_024016.3		68,981,5454	GG,GA,AA		5.3372,14.9342,8.5883		173/244	46690777	1117,11889	2203	4300	6503	SO:0001819	synonymous_variant	3218	exon2			CCGCTTACGAGTC		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.519T>C	17.37:g.46690777A>G		Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	182	180	0.989011	NM_024016	Q9H1I2	Silent	SNP	ENST00000239144.4	37	CCDS11533.1																																																																																			A|0.924;G|0.076	0.076	strong		0.557	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			G	46690777	A	G	46690777	2	3	23	1	0	0	0	0	0	0	0	1	7307	378	14	2		2	HOXB8	17	46690777	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21047	46690777	34504433	3946	20402										
TTLL6	284076	hgsc.bcm.edu	37	chr17	46847364	46847364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgtctctgggccactgtaCtcagagctggcggtcacagc	12	14	3	1	rs2032844	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46847364C>A	ENST00000393382.3	-	14	2277	c.2136G>T	c.(2134-2136)gaG>gaT	p.E712D	TTLL6_ENST00000433608.2_Missense_Mutation_p.E405D	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGCCACTGTACTCAGAGCTGG	0.517													C|||	1193	0.238219	0.2602	0.3905	5008	,	,		15857	0.1736		0.2445	False		,,,				2504	0.1605				p.E712D		Atlas-SNP	.											.	TTLL6	113	.	0			c.G2136T						PASS	.	C	ASP/GLU,ASP/GLU	1137,3269	402.6+/-332.4	148,841,1214	68	72	70		2136,1215	-3.8	0	17	dbSNP_94	70	2144,6456	368.4+/-335.1	262,1620,2418	yes	missense,missense	TTLL6	NM_001130918.1,NM_173623.3	45,45	410,2461,3632	AA,AC,CC		24.9302,25.8057,25.2268	probably-damaging,probably-damaging	712/892,405/585	46847364	3281,9725	2203	4300	6503	SO:0001583	missense	284076	exon14			ACTGTACTCAGAG	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2136G>T	17.37:g.46847364C>A	ENSP00000377043:p.Glu712Asp	Somatic	327	1	0.0030581		WXS	Illumina HiSeq	Phase_I	315	150	0.47619	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	537	0.24587912087912087	129	0.2621951219512195	133	0.3674033149171271	89	0.1555944055944056	186	0.24538258575197888	C	18.07	3.541315	0.65085	0.258057	0.249302	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.36	-3.84	0.04256	.	6.187980	0.00357	N	0.000038	T	0.00012	0.0000	L	0.59436	1.845	0.80722	P	0.0	P;D	0.76494	0.954;0.999	B;D	0.80764	0.437;0.994	T	0.23476	-1.0187	8	0.49607	T	0.09	.	5.6836	0.17790	0.1313:0.5714:0.0:0.2972	rs2032844;rs52819623;rs58091541;rs2032844	664;405	Q8N841;G5E937	TTLL6_HUMAN;.	D	712;405;390;664	.	ENSP00000302547:E405D	E	-	3	2	TTLL6	44202363	0.000000	0.05858	0.002000	0.10522	0.210000	0.24377	-1.741000	0.01837	-0.440000	0.07211	0.655000	0.94253	GAG	C|0.755;A|0.245	0.245	strong		0.517	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		A	46847364	C	A	46847364	3	1	23	1	0	0	0	0	1	0	0	0	16728	564	20	4	547	4	TTLL6	17	46847364	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	156587	46847364	34347846	3947	20403										
TTLL6	284076	hgsc.bcm.edu	37	chr17	46877017	46877017	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccctggtttgatttctttCactgtccgggtgatgaatat	9	9	2	3	rs201225285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46877017C>T	ENST00000393382.3	-	6	858	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGATTTCTTTCACTGTCCGGG	0.428																																					p.V239V		Atlas-SNP	.											.	TTLL6	113	.	0			c.G717A						PASS	.						173	141	151					17																	46877017		692	1591	2283	SO:0001819	synonymous_variant	284076	exon6			TTCTTTCACTGTC	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.717G>A	17.37:g.46877017C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	148	63	0.425676	NM_001130918		Silent	SNP	ENST00000393382.3	37	CCDS45724.1																																																																																			C|0.996;T|0.004	0.004	strong		0.428	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		T	46877017	C	T	46877017	2	4	23	1	0	0	0	0	0	0	0	1	16728	813	29	2		2	TTLL6	17	46877017	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29653	46877017	34318193	3948	20404										
TTLL6	284076	hgsc.bcm.edu	37	chr17	46894377	46894377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccgctgggctgctagtccAgcttgcaaccacacctgccg	10	18	0	0	rs3959442	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46894377A>C	ENST00000393382.3	-	1	199	c.58T>G	c.(58-60)Tgg>Ggg	p.W20G	TTLL6_ENST00000470462.2_5'UTR	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGCTAGTCCAGCTTGCAACC	0.667													A|||	1360	0.271565	0.3434	0.4063	5008	,	,		12670	0.1875		0.2664	False		,,,				2504	0.1708				p.W20G		Atlas-SNP	.											.	TTLL6	113	.	0			c.T58G						PASS	.	A	GLY/TRP	456,928		79,298,315	40	51	48		58	-0.6	0	17	dbSNP_108	48	862,2320		120,622,849	yes	missense	TTLL6	NM_001130918.1	184	199,920,1164	CC,CA,AA		27.0899,32.948,28.8655		20/892	46894377	1318,3248	692	1591	2283	SO:0001583	missense	284076	exon1			TAGTCCAGCTTGC	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.58T>G	17.37:g.46894377A>C	ENSP00000377043:p.Trp20Gly	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	26	9	0.346154	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	606	0.2774725274725275	163	0.3313008130081301	145	0.4005524861878453	95	0.1660839160839161	203	0.2678100263852243	A	0.930	-0.713124	0.03206	0.32948	0.270899	ENSG00000170703	ENST00000440941;ENST00000418322	.	.	.	4.19	-0.634	0.11516	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.47509	-0.9112	5	0.29301	T	0.29	.	5.1484	0.14996	0.5233:0.3665:0.0:0.1101	rs3959442	.	.	.	G	20;22	.	ENSP00000403514:W22G	W	-	1	0	TTLL6	44249376	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.112000	0.10791	-0.138000	0.11434	-0.294000	0.09567	TGG	T|0.000;G|0.000;C|0.278;A|0.721	0.278	strong		0.667	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		C	46894377	A	C	46894377	3	2	23	1	0	0	0	0	1	0	0	0	16728	188	7	5	2758	5	TTLL6	17	46894377	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	17360	46894377	34300833	3949	20405										
CALCOCO2	10241	hgsc.bcm.edu	37	chr17	46939658	46939658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatccaagaaagttcttccCccagcccggtaagtatttga	8	11	1	2	rs10278	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:46939658C>G	ENST00000258947.3	+	12	1266	c.1165C>G	c.(1165-1167)Ccc>Gcc	p.P389A	CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P347A|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P413A|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P317A|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P410A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	389			P -> A (in dbSNP:rs10278). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.4, ECO:0000269|Ref.6}.		response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AAGTTCTTCCCCCAGCCCGGT	0.413																																					p.P413A		Atlas-SNP	.											.	CALCOCO2	29	.	0			c.C1237G						PASS	.	C	ALA/PRO	1475,2931	473.9+/-356.8	239,997,967	124	120	121		1165	-0.7	0	17	dbSNP_52	121	2601,5999	421.5+/-353.7	395,1811,2094	yes	missense	CALCOCO2	NM_005831.3	27	634,2808,3061	GG,GC,CC		30.2442,33.4771,31.3394	benign	389/447	46939658	4076,8930	2203	4300	6503	SO:0001583	missense	10241	exon13			TCTTCCCCCAGCC	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1165C>G	17.37:g.46939658C>G	ENSP00000258947:p.Pro389Ala	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	202	93	0.460396	NM_001261390	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	CCDS11538.1	609	0.27884615384615385	157	0.31910569105691056	154	0.425414364640884	93	0.16258741258741258	205	0.2704485488126649	C	13.18	2.161292	0.38119	0.334771	0.302442	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000508679;ENST00000507306	T;T;T;T;T;T	0.71341	2.6;2.74;2.6;2.73;2.5;-0.56	5.05	-0.674	0.11369	.	0.533478	0.17025	N	0.189977	T	0.00012	0.0000	L	0.58101	1.795	0.80722	P	0.0	B;B;B;B	0.15141	0.012;0.007;0.006;0.006	B;B;B;B	0.11329	0.004;0.006;0.004;0.003	T	0.31861	-0.9928	9	0.33940	T	0.23	0.4464	4.5603	0.12158	0.0:0.4294:0.3067:0.2639	rs10278;rs1134989;rs1422645;rs3197407;rs11539409;rs17342409;rs17350096;rs52821500;rs1422645	347;413;410;389	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	A	389;410;413;347;317;57	ENSP00000258947:P389A;ENSP00000424352:P410A;ENSP00000398523:P413A;ENSP00000406974:P347A;ENSP00000423437:P317A;ENSP00000424083:P57A	ENSP00000258947:P389A	P	+	1	0	CALCOCO2	44294657	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	0.019000	0.13444	-0.118000	0.11851	0.655000	0.94253	CCC	C|0.673;G|0.327	0.327	strong		0.413	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		G	46939658	C	G	46939658	3	3	23	1	0	0	0	0	1	0	0	0	2578	623	22	4	1207	4	CALCOCO2	17	46939658	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45281	46939658	34255552	3950	20406										
SNF8	11267	hgsc.bcm.edu	37	chr17	47007963	47007963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccacgccaacccttccttCagcaggtgttcctggaggga	11	14	1	0	rs2270576	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:47007963C>T	ENST00000502492.1	-	8	1033	c.651G>A	c.(649-651)ctG>ctA	p.L217L	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Silent_p.L216L|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	217					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						ACCCTTCCTTCAGCAGGTGTT	0.552													C|||	1169	0.233427	0.1959	0.4063	5008	,	,		17216	0.1746		0.2664	False		,,,				2504	0.1881				p.L217L		Atlas-SNP	.											.	SNF8	15	.	0			c.G651A						PASS	.	C		1016,3390	373.2+/-320.7	110,796,1297	43	41	41		651	1.5	1	17	dbSNP_100	41	2414,6186	395.4+/-345.0	334,1746,2220	no	coding-synonymous	SNF8	NM_007241.2		444,2542,3517	TT,TC,CC		28.0698,23.0595,26.3724		217/259	47007963	3430,9576	2203	4300	6503	SO:0001819	synonymous_variant	11267	exon8			TTCCTTCAGCAGG	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.651G>A	17.37:g.47007963C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	36	17	0.472222	NM_007241	Q8IXY3|Q9UN50	Silent	SNP	ENST00000502492.1	37	CCDS11541.1																																																																																			C|0.747;T|0.253	0.253	strong		0.552	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		T	47007963	C	T	47007963	2	4	23	1	0	0	0	0	0	0	0	1	14846	813	29	2		2	SNF8	17	47007963	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	68305	47007963	34187247	3951	20407										
ABI3	51225	hgsc.bcm.edu	37	chr17	47297633	47297633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacctcctccaccagcagcCgtcgaggtgttccagcggcc	10	19	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:47297633C>T	ENST00000225941.1	+	6	1245	c.747C>T	c.(745-747)gcC>gcT	p.A249A	ABI3_ENST00000419580.2_Silent_p.A243A	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	249	Pro-rich.				cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CACCAGCAGCCGTCGAGGTGT	0.692										HNSCC(55;0.14)																											p.A249A		Atlas-SNP	.											ABI3,right_upper_lobe,carcinoma,0,1	ABI3	35	1	0			c.C747T						scavenged	.						37	33	35					17																	47297633		2200	4299	6499	SO:0001819	synonymous_variant	51225	exon6			AGCAGCCGTCGAG	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.747C>T	17.37:g.47297633C>T		Somatic	324	1	0.00308642		WXS	Illumina HiSeq	Phase_I	269	3	0.0111524	NM_016428	C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	CCDS11546.1																																																																																			.	.	none		0.692	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		T	47297633	C	T	47297633	2	4	23	1	0	0	0	0	0	0	0	1	90	639	23	1		1	ABI3	17	47297633	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	289670	47297633	33897577	3952	20408										
SLC35B1	10237	hgsc.bcm.edu	37	chr17	47783663	47783663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catagagccagctccgggtaCgatccaccctggcagtgtca	11	14	1	1	rs1135034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:47783663C>T	ENST00000240333.6	-	3	363	c.242G>A	c.(241-243)cGt>cAt	p.R81H	RP11-613C6.2_ENST00000512720.1_RNA|SLC35B1_ENST00000415270.2_Missense_Mutation_p.R118H			P78383	S35B1_HUMAN	solute carrier family 35, member B1	81			R -> H (in dbSNP:rs1135034). {ECO:0000269|PubMed:15489334}.		transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GCTCCGGGTACGATCCACCCT	0.413													.|||	260	0.0519169	0.1006	0.036	5008	,	,		12590	0.0		0.0865	False		,,,				2504	0.0153				p.R81H		Atlas-SNP	.											.	SLC35B1	21	.	0			c.G242A						PASS	.	C	HIS/ARG	378,4028	190.9+/-216.7	15,348,1840	45	41	43		242	4.8	1	17	dbSNP_86	43	733,7867	176.9+/-226.6	27,679,3594	yes	missense	SLC35B1	NM_005827.1	29	42,1027,5434	TT,TC,CC		8.5233,8.5792,8.5422	benign	81/323	47783663	1111,11895	2203	4300	6503	SO:0001583	missense	10237	exon3			CGGGTACGATCCA	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.242G>A	17.37:g.47783663C>T	ENSP00000240333:p.Arg81His	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	139	66	0.47482	NM_005827	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	CCDS11552.1	114|114	0.0521978021978022|0.0521978021978022	35|35	0.07113821138211382|0.07113821138211382	18|18	0.049723756906077346|0.049723756906077346	0|0	0.0|0.0	61|61	0.08047493403693931|0.08047493403693931	C|C	14.60|14.60	2.582492|2.582492	0.46006|0.46006	0.085792|0.085792	0.085233|0.085233	ENSG00000121073|ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000503334;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763;ENST00000511657|ENST00000376622	T;T;T;T;T;T;T;T|.	0.70516|.	1.54;1.54;-0.49;1.54;1.54;1.54;-0.49;-0.49|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.159646|.	0.56097|.	D|.	0.000024|.	T|T	0.02267|0.02267	0.0070|0.0070	N|N	0.11651|0.11651	0.15|0.15	0.19300|0.19300	P|P	0.9999774126|0.9999774126	B;B;B|.	0.15719|.	0.003;0.008;0.014|.	B;B;B|.	0.15484|.	0.013;0.005;0.013|.	T|T	0.32745|0.32745	-0.9895|-0.9895	9|5	0.44086|0.45353	T|T	0.13|0.12	-6.1857|-6.1857	17.5988|17.5988	0.88020|0.88020	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs1135034;rs3197489;rs11552687;rs11552688;rs17422721;rs17850814;rs1135034|rs1135034;rs3197489;rs11552687;rs11552688;rs17422721;rs17850814;rs1135034	81;14;81|.	B4DJG9;D3DTX1;P78383|.	.;.;S35B1_HUMAN|.	H|I	81;118;14;84;81;50;115;38;14|102	ENSP00000240333:R81H;ENSP00000409548:R118H;ENSP00000423323:R14H;ENSP00000424367:R84H;ENSP00000426961:R50H;ENSP00000427689:R115H;ENSP00000422104:R38H;ENSP00000426402:R14H|.	ENSP00000240333:R81H|ENSP00000365809:V102I	R|V	-|-	2|1	0|0	SLC35B1|SLC35B1	45138662|45138662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.511000|4.511000	0.60462|0.60462	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	CGT|GTA	C|0.928;T|0.072	0.072	strong		0.413	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		T	47783663	C	T	47783663	3	4	23	1	0	0	0	0	1	0	0	0	14575	536	19	1	754	1	SLC35B1	17	47783663	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	486030	47783663	33411547	3953	20409										
CHAD	1101	hgsc.bcm.edu	37	chr17	48545596	48545596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatttggcgaggttctccacGtcgtccagggccccgggctg	14	13	1	0	rs34864120	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48545596G>A	ENST00000508540.1	-	1	731	c.579C>T	c.(577-579)gaC>gaT	p.D193D	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.D193D|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	193					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTCTCCACGTCGTCCAGGG	0.647													G|||	945	0.188698	0.0946	0.2536	5008	,	,		19319	0.1419		0.2992	False		,,,				2504	0.2045				p.D193D		Atlas-SNP	.											.	CHAD	36	.	0			c.C579T						PASS	.	G	,	606,3800	264.7+/-266.2	39,528,1636	80	87	85		579,	-8.9	0.4	17	dbSNP_126	85	2611,5989	423.0+/-354.2	397,1817,2086	no	coding-synonymous,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	,	436,2345,3722	AA,AG,GG		30.3605,13.754,24.7347	,	193/360,	48545596	3217,9789	2203	4300	6503	SO:0001819	synonymous_variant	1101	exon1			CTCCACGTCGTCC	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.579C>T	17.37:g.48545596G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	158	79	0.5	NM_001267	A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	CCDS11568.1																																																																																			G|0.767;A|0.233	0.233	strong		0.647	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48545596	G	A	48545596	2	1	23	1	0	0	0	0	0	0	0	1	3310	1136	40	1		1	CHAD	17	48545596	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	761933	48545596	32649614	3954	20410										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48595988	48595988	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaaagccccaaaagaagaGaagagacctccctgggcccc	9	14	0	3	rs8064455	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48595988G>C	ENST00000323776.5	+	5	846	c.684G>C	c.(682-684)gaG>gaC	p.E228D	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E191D	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAAAGAAGAGAAGAGACCTC	0.542													G|||	1280	0.255591	0.6566	0.1369	5008	,	,		18561	0.0536		0.159	False		,,,				2504	0.1053				p.E228D		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.G684C						PASS	.	G	ASP/GLU	2530,1876	631.8+/-395.7	739,1052,412	112	128	122		684	2.2	0.7	17	dbSNP_116	122	1436,7164	275.2+/-291.6	125,1186,2989	yes	missense	MYCBPAP	NM_032133.4	45	864,2238,3401	CC,CG,GG		16.6977,42.5783,30.4936	benign	228/985	48595988	3966,9040	2203	4300	6503	SO:0001583	missense	84073	exon5			AGAAGAGAAGAGA	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.684G>C	17.37:g.48595988G>C	ENSP00000323184:p.Glu228Asp	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	510	0.23351648351648352	310	0.6300813008130082	55	0.15193370165745856	23	0.04020979020979021	122	0.16094986807387862	G	12.97	2.098796	0.37048	0.574217	0.166977	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.25250	1.81;1.82	5.37	2.19	0.27852	.	1.163120	0.06304	N	0.701470	T	0.00012	0.0000	L	0.57536	1.79	0.36667	P	0.12172899999999998	B	0.28933	0.228	B	0.27796	0.083	T	0.43163	-0.9408	9	0.22706	T	0.39	-7.293	7.3332	0.26594	0.2003:0.0:0.6813:0.1184	rs8064455;rs52820327;rs58596757;rs8064455	191	Q8TBZ2	MYBPP_HUMAN	D	228;243;191	ENSP00000323184:E228D;ENSP00000397209:E191D	ENSP00000323184:E228D	E	+	3	2	MYCBPAP	45950987	0.091000	0.21658	0.740000	0.30986	0.916000	0.54674	0.197000	0.17197	0.615000	0.30124	0.563000	0.77884	GAG	G|0.721;C|0.279	0.279	strong		0.542	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		C	48595988	G	C	48595988	3	2	23	1	0	0	0	0	1	0	0	0	10019	933	33	4	702	4	MYCBPAP	17	48595988	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	50392	48595988	32599222	3955	20411										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48597114	48597114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcatggagcccatcactcaCatcaggaagccccactccat	6	17	4	0	rs28498091	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48597114C>T	ENST00000323776.5	+	7	1173	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Silent_p.H300H	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCATCACTCACATCAGGAAGC	0.577													C|||	832	0.166134	0.3631	0.0937	5008	,	,		21016	0.0496		0.1421	False		,,,				2504	0.0961				p.H337H		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.C1011T						PASS	.	C		1566,2840	487.6+/-361.0	285,996,922	74	62	66		1011	2.3	0	17	dbSNP_125	66	1235,7365	245.8+/-274.5	90,1055,3155	no	coding-synonymous	MYCBPAP	NM_032133.4		375,2051,4077	TT,TC,CC		14.3605,35.5424,21.5362		337/985	48597114	2801,10205	2203	4300	6503	SO:0001819	synonymous_variant	84073	exon7			CACTCACATCAGG	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1011C>T	17.37:g.48597114C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	66	29	0.439394	NM_032133		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																			C|0.802;T|0.198	0.198	strong		0.577	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		T	48597114	C	T	48597114	2	4	23	1	0	0	0	0	0	0	0	1	10019	477	17	2		2	MYCBPAP	17	48597114	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1126	48597114	32598096	3956	20412										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48598785	48598785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagctcctctgaagacacaGcatacttgtgagtgcagcct	10	11	1	3	rs1380657	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48598785G>A	ENST00000323776.5	+	9	1432	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A387T	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGAAGACACAGCATACTTGTG	0.547													A|||	4060	0.810703	0.913	0.6988	5008	,	,		20382	0.8879		0.7336	False		,,,				2504	0.7515				p.A424T		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.G1270A						PASS	.	A	THR/ALA	3921,485		1750,421,32	64	65	65		1270	-4.3	0	17	dbSNP_88	65	6246,2354		2285,1676,339	yes	missense	MYCBPAP	NM_032133.4	58	4035,2097,371	AA,AG,GG		27.3721,11.0077,21.8284	benign	424/985	48598785	10167,2839	2203	4300	6503	SO:0001583	missense	84073	exon9			GACACAGCATACT	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1270G>A	17.37:g.48598785G>A	ENSP00000323184:p.Ala424Thr	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	155	153	0.987097	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	1777	0.8136446886446886	453	0.9207317073170732	258	0.712707182320442	510	0.8916083916083916	556	0.7335092348284961	A	5.695	0.312728	0.10789	0.889923	0.726279	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45276	0.9;0.9	4.68	-4.29	0.03721	.	2.770710	0.01165	N	0.006722	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	9	0.11182	T	0.66	1.3766	8.3331	0.32197	0.5198:0.0:0.3793:0.1009	rs1380657;rs17856808;rs58822805;rs1380657	387	Q8TBZ2	MYBPP_HUMAN	T	424;387	ENSP00000323184:A424T;ENSP00000397209:A387T	ENSP00000323184:A424T	A	+	1	0	MYCBPAP	45953784	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.797000	0.04570	-1.013000	0.03383	-1.007000	0.02485	GCA	G|0.199;A|0.801	0.801	strong		0.547	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		A	48598785	G	A	48598785	3	1	23	1	0	0	0	0	1	0	0	0	10019	971	34	2	1304	2	MYCBPAP	17	48598785	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1671	48598785	32596425	3957	20413										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48603503	48603503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggaccaagagtcctcagCggaagagcatcatggaggag	16	8	2	2	rs9890721	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48603503C>T	ENST00000323776.5	+	14	2335	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R688W	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAGTCCTCAGCGGAAGAGCAT	0.622													C|||	2693	0.53774	0.2163	0.5548	5008	,	,		14998	0.8363		0.5507	False		,,,				2504	0.6391				p.R725W		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.C2173T						PASS	.	C	TRP/ARG	1145,3261	398.5+/-330.9	158,829,1216	69	68	68		2173	-4.6	0	17	dbSNP_119	68	4678,3922	593.9+/-393.2	1282,2114,904	yes	missense	MYCBPAP	NM_032133.4	101	1440,2943,2120	TT,TC,CC		45.6047,25.9873,44.7716	benign	725/985	48603503	5823,7183	2203	4300	6503	SO:0001583	missense	84073	exon14			CCTCAGCGGAAGA	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2173C>T	17.37:g.48603503C>T	ENSP00000323184:p.Arg725Trp	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	127	62	0.488189	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	1222	0.5595238095238095	117	0.23780487804878048	200	0.5524861878453039	487	0.8513986013986014	418	0.5514511873350924	C	10.55	1.380972	0.24944	0.259873	0.543953	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.26810	1.71;1.71	5.35	-4.59	0.03400	.	1.293160	0.05121	N	0.490681	T	0.00012	0.0000	M	0.65975	2.015	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.40175	-0.9577	9	0.51188	T	0.08	-1.8414	3.847	0.08939	0.3639:0.273:0.0:0.363	rs9890721;rs17642285;rs17856809;rs59499446;rs9890721	688	Q8TBZ2	MYBPP_HUMAN	W	725;688	ENSP00000323184:R725W;ENSP00000397209:R688W	ENSP00000323184:R725W	R	+	1	2	MYCBPAP	45958502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.121000	0.01322	-1.075000	0.03129	-2.299000	0.00261	CGG	C|0.507;N|0.000	.	strong		0.622	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		T	48603503	C	T	48603503	3	4	23	1	0	0	0	0	1	0	0	0	10019	759	27	1	2227	1	MYCBPAP	17	48603503	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4718	48603503	32591707	3958	20414										
MYCBPAP	84073	hgsc.bcm.edu	37	chr17	48606537	48606537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggggaaatacacccagagCctgcacagtgaggtgaaggg	15	8	0	3	rs1133818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48606537C>G	ENST00000323776.5	+	18	3003	c.2841C>G	c.(2839-2841)agC>agG	p.S947R	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S910R	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACACCCAGAGCCTGCACAGTG	0.542													G|||	4057	0.810104	0.9153	0.6988	5008	,	,		17926	0.8819		0.7336	False		,,,				2504	0.7515				p.S947R		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.C2841G						PASS	.	G	ARG/SER	3922,484	221.7+/-238.7	1753,416,34	37	41	39		2841	5.3	0.6	17	dbSNP_86	39	6269,2331	387.7+/-342.3	2297,1675,328	yes	missense	MYCBPAP	NM_032133.4	110	4050,2091,362	GG,GC,CC		27.1047,10.985,21.6439	possibly-damaging	947/985	48606537	10191,2815	2203	4300	6503	SO:0001583	missense	84073	exon18			CCAGAGCCTGCAC	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2841C>G	17.37:g.48606537C>G	ENSP00000323184:p.Ser947Arg	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	61	61	1	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	1777	0.8136446886446886	456	0.926829268292683	258	0.712707182320442	507	0.8863636363636364	556	0.7335092348284961	G	3.009	-0.204353	0.06180	0.89015	0.728953	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.20200	2.09;2.09	5.26	5.26	0.73747	.	0.198671	0.43110	N	0.000611	T	0.00012	0.0000	N	0.00099	-2.14	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.38067	-0.9678	9	0.02654	T	1	-23.3303	13.166	0.59571	0.0:0.1604:0.8396:0.0	rs1133818;rs3178519;rs3195892;rs11559079;rs17421945;rs17642482;rs17856810;rs52811849;rs58726894;rs1133818	910	Q8TBZ2	MYBPP_HUMAN	R	947;910	ENSP00000323184:S947R;ENSP00000397209:S910R	ENSP00000323184:S947R	S	+	3	2	MYCBPAP	45961536	1.000000	0.71417	0.610000	0.28997	0.752000	0.42762	0.855000	0.27805	1.239000	0.43787	-0.120000	0.15030	AGC	C|0.198;G|0.802	0.802	strong		0.542	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		G	48606537	C	G	48606537	3	3	23	1	0	0	0	0	1	0	0	0	10019	738	26	4	2911	4	MYCBPAP	17	48606537	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3034	48606537	32588673	3959	20415										
MYCBPAP	55040	hgsc.bcm.edu	37	chr17	48608717	48608717	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctggacaccctggtgacTgacctgatggtcctggctga	13	12	0	4	rs1064055	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48608717T>C	ENST00000268933.3	+	0	0				MYCBPAP_ENST00000323776.5_Silent_p.T961T|EPN3_ENST00000537145.1_5'Flank|EPN3_ENST00000541226.1_5'Flank|MYCBPAP_ENST00000436259.2_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3							clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCTGGTGACTGACCTGATGG	0.547													C|||	4081	0.814896	0.9289	0.7003	5008	,	,		17445	0.8859		0.7356	False		,,,				2504	0.7505				p.T961T		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.T2883C						PASS	.	C		3964,442	210.8+/-231.2	1789,386,28	74	61	66		2883	-10.8	0	17	dbSNP_86	66	6266,2334	391.1+/-343.5	2295,1676,329	no	coding-synonymous	MYCBPAP	NM_032133.4		4084,2062,357	CC,CT,TT		27.1395,10.0318,21.344		961/985	48608717	10230,2776	2203	4300	6503	SO:0001631	upstream_gene_variant	84073	exon19			GGTGACTGACCTG	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201			17.37:g.48608717T>C	Exception_encountered	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_032133	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																			T|0.195;C|0.805	0.805	strong		0.547	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		C	48608717	T	C	48608717	1	2	23	0	1	0	0	0	0	0	0	0	10019	1567	55	3		3	MYCBPAP	17	48608717	5'Flank	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2180	48608717	32586493	3960	20416										
SPATA20	64847	hgsc.bcm.edu	37	chr17	48625928	48625928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctaggtacccctggggaCaggaagccttcgacaaggcc	14	12	1	0	rs8076632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48625928C>G	ENST00000356488.4	+	3	345	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.Q104E|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q44E	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	88			Q -> E (in dbSNP:rs8076632). {ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCCTGGGGACAGGAAGCCTT	0.637													C|||	1690	0.33746	0.6831	0.2767	5008	,	,		18074	0.0625		0.3499	False		,,,				2504	0.184				p.Q104E		Atlas-SNP	.											SPATA20,NS,carcinoma,0,1	SPATA20	59	1	0			c.C310G						PASS	.	C	GLU/GLN	2797,1607	646.3+/-398.3	904,989,309	72	81	78		310	4.6	1	17	dbSNP_116	78	3108,5492	464.2+/-366.2	561,1986,1753	yes	missense	SPATA20	NM_022827.2	29	1465,2975,2062	GG,GC,CC		36.1395,36.4896,45.4091	benign	104/803	48625928	5905,7099	2202	4300	6502	SO:0001583	missense	64847	exon4			TGGGGACAGGAAG		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.262C>G	17.37:g.48625928C>G	ENSP00000348878:p.Gln88Glu	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	38	21	0.552632	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	746	0.3415750915750916	324	0.6585365853658537	113	0.31215469613259667	48	0.08391608391608392	261	0.34432717678100266	C	10.44	1.351888	0.24512	0.635104	0.361395	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.35973	1.28;1.28;1.28	4.59	4.59	0.56863	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.057503	0.64402	D	0.000001	T	0.00012	0.0000	N	0.00507	-1.42	0.20403	P	0.9999042779	B;B;B	0.14012	0.009;0.009;0.003	B;B;B	0.12156	0.007;0.007;0.007	T	0.39375	-0.9617	9	0.02654	T	1	-19.6545	15.7482	0.77962	0.0:1.0:0.0:0.0	rs8076632;rs11559097;rs17855972;rs57357545;rs8076632	88;88;104	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	E	104;88;44	ENSP00000006658:Q104E;ENSP00000348878:Q88E;ENSP00000376935:Q44E	ENSP00000006658:Q104E	Q	+	1	0	SPATA20	45980927	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.181000	0.65054	2.368000	0.80403	0.561000	0.74099	CAG	C|0.583;G|0.417	0.417	strong		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		G	48625928	C	G	48625928	3	3	23	1	0	0	0	0	1	0	0	0	15005	479	17	4	324	4	SPATA20	17	48625928	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	17211	48625928	32569282	3961	20417										
ABCC3	8714	hgsc.bcm.edu	37	chr17	48745035	48745035	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagcaggtggagggcatcAggcagggtgagctccagctg	18	8	1	2	rs11568601	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48745035A>C	ENST00000285238.8	+	12	1632	c.1552A>C	c.(1552-1554)Agg>Cgg	p.R518R	ABCC3_ENST00000427699.1_Silent_p.R518R	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	518	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGAGGGCATCAGGCAGGGTGA	0.622													A|||	26	0.00519169	0.0015	0.0058	5008	,	,		22136	0.0		0.0189	False		,,,				2504	0.001				p.R518R		Atlas-SNP	.											.	ABCC3	138	.	0			c.A1552C						PASS	.	A	,	21,4385	28.1+/-56.4	0,21,2182	72	58	63		1552,1552	1.7	1	17	dbSNP_126	63	219,8381	91.1+/-153.3	3,213,4084	no	coding-synonymous,coding-synonymous	ABCC3	NM_001144070.1,NM_003786.3	,	3,234,6266	CC,CA,AA		2.5465,0.4766,1.8453	,	518/573,518/1528	48745035	240,12766	2203	4300	6503	SO:0001819	synonymous_variant	8714	exon12			GGCATCAGGCAGG	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1552A>C	17.37:g.48745035A>C		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	100	45	0.45	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1																																																																																			A|0.984;C|0.016	0.016	strong		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		C	48745035	A	C	48745035	2	2	23	1	0	0	0	0	0	0	0	1	54	179	7	5		5	ABCC3	17	48745035	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	119107	48745035	32450175	3962	20418										
ABCC3	8714	hgsc.bcm.edu	37	chr17	48761053	48761053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttccggaattattctgtgcGctaccggccgggcctagacc	12	13	1	1	rs11568591	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48761053G>A	ENST00000285238.8	+	27	3970	c.3890G>A	c.(3889-3891)cGc>cAc	p.R1297H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1297	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> H (in dbSNP:rs11568591).		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TATTCTGTGCGCTACCGGCCG	0.662													g|||	99	0.0197684	0.0045	0.0476	5008	,	,		18448	0.0		0.0557	False		,,,				2504	0.0041				p.R1297H		Atlas-SNP	.											ABCC3,NS,carcinoma,+1,2	ABCC3	138	2	0			c.G3890A						PASS	.		HIS/ARG	75,4331	65.8+/-103.3	3,69,2131	124	112	116		3890	5.9	1	17	dbSNP_123	116	542,8058	149.2+/-204.3	10,522,3768	yes	missense	ABCC3	NM_003786.3	29	13,591,5899	AA,AG,GG		6.3023,1.7022,4.744	probably-damaging	1297/1528	48761053	617,12389	2203	4300	6503	SO:0001583	missense	8714	exon27			CTGTGCGCTACCG	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3890G>A	17.37:g.48761053G>A	ENSP00000285238:p.Arg1297His	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	34	0.5	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	67	0.030677655677655676	3	0.006097560975609756	22	0.06077348066298342	0	0.0	42	0.055408970976253295	g	35	5.496309	0.96355	0.017022	0.063023	ENSG00000108846	ENST00000285238	D	0.90788	-2.73	5.94	5.94	0.96194	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84861	0.0819	10	0.87932	D	0	-23.8467	20.3705	0.98891	0.0:0.0:1.0:0.0	rs11568591;rs17643133;rs52818811;rs61701650;rs11568591	1297	O15438	MRP3_HUMAN	H	1297	ENSP00000285238:R1297H	ENSP00000285238:R1297H	R	+	2	0	ABCC3	46116052	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.790000	0.99075	2.821000	0.97095	0.651000	0.88453	CGC	G|0.964;A|0.036	0.036	strong		0.662	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48761053	G	A	48761053	3	1	23	1	0	0	0	0	1	0	0	0	54	1087	38	1	4080	1	ABCC3	17	48761053	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16018	48761053	32434157	3963	20419										
ABCC3	8714	hgsc.bcm.edu	37	chr17	48761105	48761105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacctgagtctgcatgtgcaCggtggcgagaaggtacgcgt	16	9	1	2	rs2277624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48761105C>T	ENST00000285238.8	+	27	4022	c.3942C>T	c.(3940-3942)caC>caT	p.H1314H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1314	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCATGTGCACGGTGGCGAGA	0.622													c|||	1437	0.286941	0.4032	0.268	5008	,	,		19433	0.2411		0.2227	False		,,,				2504	0.2566				p.H1314H		Atlas-SNP	.											.	ABCC3	138	.	0			c.C3942T						PASS	.			1560,2846	490.4+/-361.8	279,1002,922	128	120	123		3942	-11.9	0	17	dbSNP_100	123	1882,6718	335.6+/-321.5	206,1470,2624	no	coding-synonymous	ABCC3	NM_003786.3		485,2472,3546	TT,TC,CC		21.8837,35.4063,26.4647		1314/1528	48761105	3442,9564	2203	4300	6503	SO:0001819	synonymous_variant	8714	exon27			TGTGCACGGTGGC	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3942C>T	17.37:g.48761105C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	49	21	0.428571	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1																																																																																			C|0.739;T|0.261	0.261	strong		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		T	48761105	C	T	48761105	2	4	23	1	0	0	0	0	0	0	0	1	54	535	19	1		1	ABCC3	17	48761105	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	52	48761105	32434105	3964	20420										
ABCC3	8714	hgsc.bcm.edu	37	chr17	48768486	48768486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaaaggagtagtagctgaAtttgattctccagccaacct	9	9	1	2	rs1051640	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:48768486A>G	ENST00000285238.8	+	31	4589	c.4509A>G	c.(4507-4509)gaA>gaG	p.E1503E	RP11-294J22.6_ENST00000574246.1_RNA	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1503	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TAGTAGCTGAATTTGATTCTC	0.483													A|||	521	0.104034	0.09	0.1095	5008	,	,		21371	0.0417		0.1829	False		,,,				2504	0.1022				p.E1503E		Atlas-SNP	.											.	ABCC3	138	.	0			c.A4509G						PASS	.	A		371,4035	189.9+/-215.9	17,337,1849	120	106	111		4509	0.6	1	17	dbSNP_86	111	1533,7067	290.7+/-299.9	149,1235,2916	no	coding-synonymous	ABCC3	NM_003786.3		166,1572,4765	GG,GA,AA		17.8256,8.4203,14.6394		1503/1528	48768486	1904,11102	2203	4300	6503	SO:0001819	synonymous_variant	8714	exon31			AGCTGAATTTGAT	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4509A>G	17.37:g.48768486A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	135	58	0.42963	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1																																																																																			A|0.876;G|0.124	0.124	strong		0.483	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		G	48768486	A	G	48768486	2	3	23	1	0	0	0	0	0	0	0	1	54	98	4	2		2	ABCC3	17	48768486	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7381	48768486	32426724	3965	20421										
UTP18	51096	hgsc.bcm.edu	37	chr17	49350802	49350802	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaacttctcttccaagaggAatcttgaaggtgagagtcag	10	8	4	3	rs2318789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:49350802A>C	ENST00000225298.7	+	5	759	c.702A>C	c.(700-702)ggA>ggC	p.G234G		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	234					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTCCAAGAGGAATCTTGAAGG	0.398													A|||	2134	0.426118	0.1248	0.4424	5008	,	,		13944	0.6071		0.4791	False		,,,				2504	0.5808				p.G234G		Atlas-SNP	.											.	UTP18	28	.	0			c.A702C						PASS	.	A		655,3107		56,543,1282	131	123	125		702	0.6	1	17	dbSNP_100	125	3821,4393		903,2015,1189	no	coding-synonymous	UTP18	NM_016001.2		959,2558,2471	CC,CA,AA		46.5181,17.411,37.3747		234/557	49350802	4476,7500	1881	4107	5988	SO:0001819	synonymous_variant	51096	exon5			AAGAGGAATCTTG	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.702A>C	17.37:g.49350802A>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	62	61	0.983871	NM_016001	Q9H4N6	Silent	SNP	ENST00000225298.7	37	CCDS42362.1																																																																																			A|0.569;C|0.431	0.431	strong		0.398	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		C	49350802	A	C	49350802	2	2	23	1	0	0	0	0	0	0	0	1	17095	233	9	5		5	UTP18	17	49350802	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	582316	49350802	31844408	3966	20422										
CA10	56934	hgsc.bcm.edu	37	chr17	49713300	49713300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggatagtcatcgacccatcGtaagtgatgaaactagaggt	12	7	1	3	rs11870209	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:49713300G>A	ENST00000285273.4	-	8	1816	c.705C>T	c.(703-705)taC>taT	p.Y235Y	CA10_ENST00000442502.2_Silent_p.Y235Y|CA10_ENST00000451037.2_Silent_p.Y235Y|CA10_ENST00000340813.6_Silent_p.Y241Y|CA10_ENST00000570565.1_Silent_p.Y160Y|CA10_ENST00000571918.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	235					brain development (GO:0007420)			p.Y235Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TCGACCCATCGTAAGTGATGA	0.403													G|||	1823	0.364018	0.2481	0.4496	5008	,	,		18533	0.3442		0.4911	False		,,,				2504	0.3497				p.Y235Y		Atlas-SNP	.											CA10,NS,carcinoma,0,2	CA10	84	2	1	Substitution - coding silent(1)	stomach(1)	c.C705T						PASS	.	G	,,	1231,3175	428.7+/-342.0	182,867,1154	116	106	109		705,705,705	-9.6	0.5	17	dbSNP_120	109	4165,4435	568.5+/-389.0	1014,2137,1149	no	coding-synonymous,coding-synonymous,coding-synonymous	CA10	NM_001082533.1,NM_001082534.1,NM_020178.4	,,	1196,3004,2303	AA,AG,GG		48.4302,27.9392,41.4885	,,	235/329,235/329,235/329	49713300	5396,7610	2203	4300	6503	SO:0001819	synonymous_variant	56934	exon8			CCCATCGTAAGTG	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.705C>T	17.37:g.49713300G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	125	125	1	NM_001082534	B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	CCDS32684.1																																																																																			G|0.606;A|0.394	0.394	strong		0.403	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		A	49713300	G	A	49713300	2	1	23	1	0	0	0	0	0	0	0	1	2511	1140	40	1		1	CA10	17	49713300	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	362498	49713300	31481910	3967	20423										
MSI2	124540	hgsc.bcm.edu	37	chr17	55752389	55752389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaacagcccaggacctgtcGccgatctctacggccctgcc	9	19	1	0	rs116924898	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:55752389G>A	ENST00000284073.2	+	12	1056	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MSI2_ENST00000442934.2_Missense_Mutation_p.A222T|MSI2_ENST00000416426.2_Missense_Mutation_p.A279T|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	283						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGGACCTGTCGCCGATCTCTA	0.687			T	HOXA9	CML								G|||	15	0.00299521	0.0008	0.0043	5008	,	,		15149	0.0		0.0099	False		,,,				2504	0.001				p.A283T		Atlas-SNP	.		Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	.	MSI2	52	.	0			c.G847A						PASS	.	G	THR/ALA	7,4399	11.4+/-27.6	0,7,2196	47	58	55		847	4.5	1	17	dbSNP_132	55	94,8500	49.8+/-109.6	0,94,4203	yes	missense	MSI2	NM_138962.2	58	0,101,6399	AA,AG,GG		1.0938,0.1589,0.7769	probably-damaging	283/329	55752389	101,12899	2203	4297	6500	SO:0001583	missense	124540	exon12			CCTGTCGCCGATC	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.847G>A	17.37:g.55752389G>A	ENSP00000284073:p.Ala283Thr	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	120	57	0.475	NM_138962	Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	CCDS11596.1	12	0.005494505494505495	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	G	25.8	4.674614	0.88445	0.001589	0.010938	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;D;D	0.85773	-2.03;-2.03;-2.03	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71656	0.959;0.974	D	0.85771	0.1355	10	0.15952	T	0.53	.	17.1487	0.86773	0.0:0.0:1.0:0.0	.	279;283	B4DHE8;Q96DH6	.;MSI2H_HUMAN	T	279;283;222	ENSP00000414671:A279T;ENSP00000284073:A283T;ENSP00000392607:A222T	ENSP00000284073:A283T	A	+	1	0	MSI2	53107388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.418000	0.97395	2.038000	0.60285	0.491000	0.48974	GCC	A|0.007;C|0.000;G|0.992	0.007	strong		0.687	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			A	55752389	G	A	55752389	3	1	23	1	0	0	0	0	1	0	0	0	9876	1087	38	1	988	1	MSI2	17	55752389	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6039089	55752389	25442821	3968	20424										
SFRS1	6426	hgsc.bcm.edu	37	chr17	56083705	56083705	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacaaccagtacactcaccAgagacaaccactctgttttc	4	15	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56083705A>G	ENST00000258962.4	-	2	586	c.378T>C	c.(376-378)tcT>tcC	p.S126S	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000582730.2_Splice_Site_p.S126S|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Splice_Site_p.S126S	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	126	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACACTCACCAGAGACAACCA	0.527																																					p.S126S		Atlas-SNP	.											.	SRSF1	41	.	0			c.T378C						PASS	.						44	53	50					17																	56083705		2125	4165	6290	SO:0001630	splice_region_variant	6426	exon2			CTCACCAGAGACA		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.379+1T>C	17.37:g.56083705A>G		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	174	56	0.321839	NM_006924	B2R6Z7|D3DTZ3|Q13809	Silent	SNP	ENST00000258962.4	37	CCDS11600.1																																																																																			.	.	none		0.527	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924	Silent	G	56083705	A	G	56083705	5	3	23	1	0	0	0	0	0	0	1	0	14165	202	7	3	434	3	SFRS1	17	56083705	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	331316	56083705	25111505	3969	20425										
OR4D1	26689	hgsc.bcm.edu	37	chr17	56232675	56232675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacagtgacttttgactgccGgctccacacacccatgtatt	7	14	0	2	rs12602205	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56232675G>A	ENST00000268912.5	+	1	182	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	54			R -> Q (in dbSNP:rs12602205).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTGACTGCCGGCTCCACACA	0.473													G|||	284	0.0567093	0.0499	0.0519	5008	,	,		19979	0.001		0.0924	False		,,,				2504	0.09				p.R54Q		Atlas-SNP	.											.	OR4D1	48	.	0			c.G161A						PASS	.						176	174	175					17																	56232675		2110	4269	6379	SO:0001583	missense	26689	exon1			ACTGCCGGCTCCA	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.161G>A	17.37:g.56232675G>A	ENSP00000365451:p.Arg54Gln	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	125	59	0.472	NM_012374	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	119	0.05448717948717949	24	0.04878048780487805	23	0.06353591160220995	1	0.0017482517482517483	71	0.09366754617414248	g	11.22	1.574058	0.28092	.	.	ENSG00000141194	ENST00000268912	T	0.01119	5.31	5.63	-0.983	0.10263	GPCR, rhodopsin-like superfamily (1);	0.795760	0.10072	N	0.719604	T	0.00073	0.0002	L	0.41573	1.285	0.09310	N	1	B	0.22604	0.072	B	0.17979	0.02	T	0.44406	-0.9330	10	0.37606	T	0.19	-1.8757	10.6281	0.45519	0.4382:0.0:0.5618:0.0	rs12602205;rs52805994;rs12602205	54	Q15615	OR4D1_HUMAN	Q	54	ENSP00000365451:R54Q	ENSP00000365451:R54Q	R	+	2	0	OR4D1	53587674	0.000000	0.05858	0.001000	0.08648	0.840000	0.47671	-0.235000	0.09016	-0.374000	0.07967	-1.490000	0.00973	CGG	G|0.932;A|0.068	0.068	strong		0.473	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			A	56232675	G	A	56232675	3	1	23	1	0	0	0	0	1	0	0	0	11053	1116	39	1	163	1	OR4D1	17	56232675	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	148970	56232675	24962535	3970	20426										
OR4D1	26689	hgsc.bcm.edu	37	chr17	56233234	56233234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaaggcagcttccacctgCaccacccacatcatcgtggt	9	15	1	0	rs62636635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56233234C>T	ENST00000268912.5	+	1	741	c.720C>T	c.(718-720)tgC>tgT	p.C240C		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	240					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTCCACCTGCACCACCCACA	0.507													C|||	166	0.033147	0.0023	0.0231	5008	,	,		17040	0.001		0.0596	False		,,,				2504	0.0879				p.C240C		Atlas-SNP	.											.	OR4D1	48	.	0			c.C720T						PASS	.	C		40,4366	43.1+/-76.7	0,40,2163	117	106	110		720	0.9	1	17	dbSNP_129	110	476,8124	139.5+/-196.2	11,454,3835	no	coding-synonymous	OR4D1	NM_012374.1		11,494,5998	TT,TC,CC		5.5349,0.9079,3.9674		240/311	56233234	516,12490	2203	4300	6503	SO:0001819	synonymous_variant	26689	exon1			CACCTGCACCACC	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.720C>T	17.37:g.56233234C>T		Somatic	295	0	0		WXS	Illumina HiSeq	Phase_I	287	143	0.498258	NM_012374	B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	CCDS42365.1																																																																																			C|0.961;T|0.039	0.039	strong		0.507	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			T	56233234	C	T	56233234	2	4	23	1	0	0	0	0	0	0	0	1	11053	718	25	2		2	OR4D1	17	56233234	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	559	56233234	24961976	3971	20427										
OR4D2	124538	hgsc.bcm.edu	37	chr17	56247306	56247306	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccatctcttaccagggctGcatgggtcagatcttcttct	8	12	5	1	rs80043692	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56247306G>C	ENST00000545221.1	+	1	290	c.290G>C	c.(289-291)tGc>tCc	p.C97S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TACCAGGGCTGCATGGGTCAG	0.527													G|||	439	0.0876597	0.1354	0.0346	5008	,	,		20459	0.002		0.1153	False		,,,				2504	0.1207				p.C97S		Atlas-SNP	.											OR4D2,NS,haematopoietic_neoplasm,0,1	OR4D2	48	1	0			c.G290C						PASS	.	G	SER/CYS	555,3851	252.4+/-258.8	38,479,1686	113	103	106		290	5.7	1	17	dbSNP_132	106	964,7636	209.4+/-250.6	53,858,3389	yes	missense	OR4D2	NM_001004707.3	112	91,1337,5075	CC,CG,GG		11.2093,12.5965,11.6792	probably-damaging	97/308	56247306	1519,11487	2203	4300	6503	SO:0001583	missense	124538	exon1			AGGGCTGCATGGG		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.290G>C	17.37:g.56247306G>C	ENSP00000441354:p.Cys97Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	54	20	0.37037	NM_001004707	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	172	0.07875457875457875	66	0.13414634146341464	10	0.027624309392265192	1	0.0017482517482517483	95	0.12532981530343007	G	20.4	3.976158	0.74360	0.125965	0.112093	ENSG00000255713	ENST00000545221	T	0.00540	6.7	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.00039	0.0001	H	0.96365	3.81	0.09310	P	0.99999683858	D	0.89917	1.0	D	0.87578	0.998	T	0.02126	-1.1209	9	0.87932	D	0	-25.7473	17.7074	0.88312	0.0:0.0:1.0:0.0	.	97	P58180	OR4D2_HUMAN	S	97	ENSP00000441354:C97S	ENSP00000441354:C97S	C	+	2	0	OR4D2	53602305	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.955000	0.87856	2.860000	0.98153	0.609000	0.83330	TGC	G|0.898;C|0.102	0.102	strong		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			C	56247306	G	C	56247306	3	2	23	1	0	0	0	0	1	0	0	0	11056	1319	46	4	292	4	OR4D2	17	56247306	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14072	56247306	24947904	3972	20428										
OR4D2	124538	hgsc.bcm.edu	37	chr17	56247454	56247454	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgggtggggctggtggtAgccacctgggtgggaggctt	20	8	1	0	rs9912728	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56247454A>G	ENST00000545221.1	+	1	438	c.438A>G	c.(436-438)gtA>gtG	p.V146V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGCTGGTGGTAGCCACCTGGG	0.572													G|||	460	0.091853	0.1483	0.0375	5008	,	,		18401	0.002		0.1153	False		,,,				2504	0.1227				p.V146V		Atlas-SNP	.											.	OR4D2	48	.	0			c.A438G						PASS	.	G		605,3801	769.3+/-413.7	45,515,1643	95	93	94		438	4.7	0.7	17	dbSNP_119	94	967,7633	774.7+/-407.7	53,861,3386	no	coding-synonymous	OR4D2	NM_001004707.3		98,1376,5029	GG,GA,AA		11.2442,13.7313,12.0867		146/308	56247454	1572,11434	2203	4300	6503	SO:0001819	synonymous_variant	124538	exon1			GGTGGTAGCCACC		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.438A>G	17.37:g.56247454A>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	83	41	0.493976	NM_001004707	Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	CCDS32688.1																																																																																			A|0.890;G|0.110	0.110	strong		0.572	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			G	56247454	A	G	56247454	2	3	23	1	0	0	0	0	0	0	0	1	11056	407	15	3		3	OR4D2	17	56247454	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	148	56247454	24947756	3973	20429										
RNF43	54894	hgsc.bcm.edu	37	chr17	56436109	56436109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcatggccgggatgctggCgaatgaggtggagtcttcga	19	7	1	1	rs34523089	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:56436109C>T	ENST00000584437.1	-	8	2983	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	RNF43_ENST00000577625.1_Missense_Mutation_p.R216H|RNF43_ENST00000500597.2_Missense_Mutation_p.R302H|RNF43_ENST00000583753.1_Missense_Mutation_p.R302H|RNF43_ENST00000407977.2_Missense_Mutation_p.R343H|RNF43_ENST00000577716.1_Missense_Mutation_p.R343H|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.R216H			Q68DV7	RNF43_HUMAN	ring finger protein 43	343			R -> H (in dbSNP:rs34523089).		negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGATGCTGGCGAATGAGGTG	0.597													C|||	327	0.0652955	0.0091	0.1167	5008	,	,		18742	0.001		0.163	False		,,,				2504	0.0706				p.R343H		Atlas-SNP	.											RNF43,NS,carcinoma,0,1	RNF43	157	1	0			c.G1028A						PASS	.	C	HIS/ARG	159,4239		3,153,2043	17	18	18		1028	2.7	1	17	dbSNP_126	18	1360,7218		135,1090,3064	yes	missense	RNF43	NM_017763.4	29	138,1243,5107	TT,TC,CC		15.8545,3.6153,11.7062	probably-damaging	343/784	56436109	1519,11457	2199	4289	6488	SO:0001583	missense	54894	exon9			TGCTGGCGAATGA		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1028G>A	17.37:g.56436109C>T	ENSP00000463069:p.Arg343His	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	47	21	0.446809	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	166	0.076007326007326	3	0.006097560975609756	44	0.12154696132596685	1	0.0017482517482517483	118	0.15567282321899736	C	16.21	3.058842	0.55325	0.036153	0.158545	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.09350	3.14;2.99	3.66	2.69	0.31865	.	0.421385	0.24485	N	0.038106	T	0.00073	0.0002	L	0.27053	0.805	0.31011	P	0.71922	B;D;D	0.89917	0.007;1.0;0.999	B;D;D	0.79108	0.005;0.992;0.981	T	0.17258	-1.0375	9	0.45353	T	0.12	-21.2099	8.7609	0.34674	0.0:0.8913:0.0:0.1087	rs34523089	302;343;343	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	343;302	ENSP00000385328:R343H;ENSP00000441969:R302H	ENSP00000385328:R343H	R	-	2	0	RNF43	53791108	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	2.096000	0.41738	0.886000	0.36113	0.400000	0.26472	CGC	C|0.912;T|0.088	0.088	strong		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56436109	C	T	56436109	3	4	23	1	0	0	0	0	1	0	0	0	13495	768	27	1	1331	1	RNF43	17	56436109	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	188655	56436109	24759101	3974	20430										
HEATR6	63897	hgsc.bcm.edu	37	chr17	58153586	58153586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggcaagcctggacaagaaGagcactaacgtcctaccaaa	9	12	0	2	rs552733926		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:58153586G>C	ENST00000184956.6	-	2	248	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	HEATR6_ENST00000585976.1_Missense_Mutation_p.L78V|HEATR6_ENST00000585712.1_5'Flank	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	78							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGGACAAGAAGAGCACTAACG	0.368																																					p.L78V		Atlas-SNP	.											.	HEATR6	98	.	0			c.C232G						PASS	.						62	55	57					17																	58153586		2203	4300	6503	SO:0001583	missense	63897	exon2			CAAGAAGAGCACT	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.232C>G	17.37:g.58153586G>C	ENSP00000184956:p.Leu78Val	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	24	12	0.5	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171512	0.38315	.	.	ENSG00000068097	ENST00000184956	T	0.44083	0.93	5.1	3.9	0.45041	Armadillo-like helical (1);	0.069197	0.56097	D	0.000024	T	0.32852	0.0843	M	0.64997	1.995	0.35789	D	0.822271	B	0.31077	0.307	B	0.24701	0.055	T	0.50423	-0.8830	10	0.62326	D	0.03	-11.8567	3.2759	0.06898	0.166:0.0:0.5802:0.2538	.	78	Q6AI08	HEAT6_HUMAN	V	78	ENSP00000184956:L78V	ENSP00000184956:L78V	L	-	1	0	HEATR6	55508368	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	0.478000	0.22212	2.557000	0.86248	0.644000	0.83932	CTT	.	.	none		0.368	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		C	58153586	G	C	58153586	3	2	23	1	0	0	0	0	1	0	0	0	7033	942	33	4	3389	4	HEATR6	17	58153586	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1717477	58153586	23041624	3975	20431										
USP32	84669	hgsc.bcm.edu	37	chr17	58285542	58285542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcagtcttagtccataccGtacaggggtagtaccatcta	8	10	3	0	rs147413172	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:58285542G>A	ENST00000300896.4	-	24	2997	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	USP32_ENST00000592339.1_Missense_Mutation_p.R605W	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	935	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R935W(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTCCATACCGTACAGGGGTA	0.353																																					p.R935W		Atlas-SNP	.											USP32,NS,malignant_melanoma,0,2	USP32	128	2	2	Substitution - Missense(2)	NS(1)|pancreas(1)	c.C2803T						scavenged	.						37	43	41					17																	58285542		2202	4289	6491	SO:0001583	missense	84669	exon24			CATACCGTACAGG	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2803C>T	17.37:g.58285542G>A	ENSP00000300896:p.Arg935Trp	Somatic	575	1	0.00173913		WXS	Illumina HiSeq	Phase_I	635	146	0.229921	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294566	0.81025	.	.	ENSG00000170832	ENST00000300896	T	0.53206	0.63	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77376	-0.2611	10	0.87932	D	0	.	18.7745	0.91904	0.0:0.0:1.0:0.0	.	935	Q8NFA0	UBP32_HUMAN	W	935	ENSP00000300896:R935W	ENSP00000300896:R935W	R	-	1	2	USP32	55640324	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.540000	0.67205	2.436000	0.82500	0.563000	0.77884	CGG	.	.	weak		0.353	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		A	58285542	G	A	58285542	3	1	23	1	0	0	0	0	1	0	0	0	17060	1144	40	1	2055	1	USP32	17	58285542	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131956	58285542	22909668	3976	20432										
NACA2	342538	hgsc.bcm.edu	37	chr17	59668517	59668517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctgctctgtagcagggaCggtttctgtggcttcgcccg	13	13	2	0	rs61748812	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:59668517C>A	ENST00000521764.1	-	1	46	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	9					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTAGCAGGGACGGTTTCTGTG	0.582													C|||	47	0.00938498	0.0	0.0144	5008	,	,		20219	0.001		0.0229	False		,,,				2504	0.0133				p.V9F		Atlas-SNP	.											.	NACA2	33	.	0			c.G25T						PASS	.	C	PHE/VAL	26,4380	34.3+/-65.2	0,26,2177	65	59	61		25	0.8	0.9	17	dbSNP_129	61	239,8361	96.6+/-158.3	4,231,4065	yes	missense	NACA2	NM_199290.3	50	4,257,6242	AA,AC,CC		2.7791,0.5901,2.0375	benign	9/216	59668517	265,12741	2203	4300	6503	SO:0001583	missense	342538	exon1			CAGGGACGGTTTC	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.25G>T	17.37:g.59668517C>A	ENSP00000427802:p.Val9Phe	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	65	28	0.430769	NM_199290	Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	CCDS11630.1	24	0.01098901098901099	0	0.0	8	0.022099447513812154	1	0.0017482517482517483	15	0.01978891820580475	C	12.65	2.001431	0.35320	0.005901	0.027791	ENSG00000253506	ENST00000521764	T	0.49139	0.79	0.753	0.753	0.18404	.	0.000000	0.50627	U	0.000103	T	0.16981	0.0408	L	0.60455	1.87	0.37959	D	0.93291	B	0.02656	0.0	B	0.06405	0.002	T	0.23261	-1.0193	8	.	.	.	.	.	.	.	.	9	Q9H009	NACA2_HUMAN	F	9	ENSP00000427802:V9F	.	V	-	1	0	NACA2	57023299	1.000000	0.71417	0.943000	0.38184	0.139000	0.21198	2.662000	0.46766	0.702000	0.31825	0.411000	0.27672	GTC	C|0.980;A|0.020	0.020	strong		0.582	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		A	59668517	C	A	59668517	3	1	23	1	0	0	0	0	1	0	0	0	10134	536	19	4	626	4	NACA2	17	59668517	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1382975	59668517	21526693	3977	20433										
INTS2	57508	hgsc.bcm.edu	37	chr17	59969000	59969000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatcaatcaaaggaagtaaTtgaggatgaagtggagtaga	12	3	2	3	rs753765	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:59969000T>C	ENST00000444766.3	-	14	1848	c.1773A>G	c.(1771-1773)caA>caG	p.Q591Q	INTS2_ENST00000251334.6_Silent_p.Q583Q	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	591					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAGGAAGTAATTGAGGATGAA	0.368													T|||	669	0.133586	0.0136	0.0504	5008	,	,		15194	0.2381		0.0646	False		,,,				2504	0.318				p.Q591Q		Atlas-SNP	.											INTS2,NS,carcinoma,0,1	INTS2	89	1	0			c.A1773G						PASS	.	T		63,3675		1,61,1807	100	97	98		1773	-7.1	0.4	17	dbSNP_86	98	507,7695		20,467,3614	no	coding-synonymous	INTS2	NM_020748.2		21,528,5421	CC,CT,TT		6.1814,1.6854,4.7739		591/1205	59969000	570,11370	1869	4101	5970	SO:0001819	synonymous_variant	57508	exon14			AAGTAATTGAGGA	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1773A>G	17.37:g.59969000T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_020748	Q9ULD3	Silent	SNP	ENST00000444766.3	37	CCDS45750.1																																																																																			T|0.903;C|0.097	0.097	strong		0.368	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		C	59969000	T	C	59969000	2	2	23	1	0	0	0	0	0	0	0	1	7778	1490	52	2		2	INTS2	17	59969000	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	300483	59969000	21226210	3978	20434										
EFCAB3	146779	hgsc.bcm.edu	37	chr17	60469289	60469289	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaatgaatctgaccaagcaTgatgtctataatgaattgaa	9	5	2	5	rs61764063	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:60469289T>C	ENST00000305286.3	+	4	336	c.258T>C	c.(256-258)caT>caC	p.H86H	EFCAB3_ENST00000450662.2_Silent_p.H138H	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGACCAAGCATGATGTCTATA	0.358													.|||	21	0.00419329	0.0	0.0086	5008	,	,		16329	0.0		0.0119	False		,,,				2504	0.0031				p.H138H		Atlas-SNP	.											.	EFCAB3	71	.	0			c.T414C						PASS	.	T	,	9,4397	15.5+/-35.6	0,9,2194	238	203	215		414,258	-0.3	0.9	17	dbSNP_129	215	98,8502	55.2+/-116.2	1,96,4203	no	coding-synonymous,coding-synonymous	EFCAB3	NM_001144933.1,NM_173503.3	,	1,105,6397	CC,CT,TT		1.1395,0.2043,0.8227	,	138/491,86/439	60469289	107,12899	2203	4300	6503	SO:0001819	synonymous_variant	146779	exon6			CAAGCATGATGTC	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.258T>C	17.37:g.60469289T>C		Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	323	113	0.349845	NM_001144933	J3KQM8	Silent	SNP	ENST00000305286.3	37	CCDS11632.1																																																																																			T|0.993;C|0.007	0.007	strong		0.358	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		C	60469289	T	C	60469289	2	2	23	1	0	0	0	0	0	0	0	1	4935	1461	51	2		2	EFCAB3	17	60469289	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	500289	60469289	20725921	3979	20435										
ACE	1636	hgsc.bcm.edu	37	chr17	61573777	61573777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actttgtcagcttcatcatcCagttccagttccacgaggca	7	13	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:61573777C>A	ENST00000290866.4	+	23	3427	c.3403C>A	c.(3403-3405)Cag>Aag	p.Q1135K	ACE_ENST00000428043.1_Missense_Mutation_p.Q1135K|ACE_ENST00000413513.3_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.Q561K|ACE_ENST00000490216.2_Missense_Mutation_p.Q561K|ACE_ENST00000577647.1_Missense_Mutation_p.Q561K|ACE_ENST00000421982.2_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1135	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTTCATCATCCAGTTCCAGTT	0.657																																					p.Q1135K		Atlas-SNP	.											.	ACE	187	.	0			c.C3403A						PASS	.						104	99	100					17																	61573777		2203	4300	6503	SO:0001583	missense	1636	exon23			ATCATCCAGTTCC	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3403C>A	17.37:g.61573777C>A	ENSP00000290866:p.Gln1135Lys	Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	248	124	0.5	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258736	0.39896	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863	T;T;T	0.37584	1.19;1.19;1.19	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.922;0.995	T	0.83186	-0.0086	10	0.87932	D	0	-44.5904	18.2622	0.90039	0.0:1.0:0.0:0.0	.	561;1135	P12821-3;P12821	.;ACE_HUMAN	K	1135;1135;561	ENSP00000290866:Q1135K;ENSP00000397593:Q1135K;ENSP00000290863:Q561K	ENSP00000290863:Q561K	Q	+	1	0	ACE	58927509	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.726000	0.84824	2.393000	0.81446	0.484000	0.47621	CAG	.	.	none		0.657	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61573777	C	A	61573777	3	1	23	1	0	0	0	0	1	0	0	0	136	595	21	4	3696	4	ACE	17	61573777	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1104488	61573777	19621433	3980	20436										
ACE	1636	hgsc.bcm.edu	37	chr17	61574642	61574642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccctgggcctcagccagcGgctcttcagcatccgccacc	9	20	3	0	rs200754517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:61574642G>A	ENST00000290866.4	+	25	3860	c.3836G>A	c.(3835-3837)cGg>cAg	p.R1279Q	ACE_ENST00000428043.1_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.R664Q|ACE_ENST00000290863.6_Missense_Mutation_p.R705Q|ACE_ENST00000490216.2_Intron|ACE_ENST00000577647.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.R484Q	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1279			R -> Q (in dbSNP:rs4980). {ECO:0000269|PubMed:10391210}.		angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCAGCCAGCGGCTCTTCAGC	0.711													g|||	18	0.00359425	0.0045	0.0086	5008	,	,		10868	0.0		0.004	False		,,,				2504	0.002				p.R1279Q		Atlas-SNP	.											.	ACE	187	.	0			c.G3836A						PASS	.		GLN/ARG,GLN/ARG,GLN/ARG	12,4210		0,12,2099	6	7	7		3836,1991,2114	1.4	1	17	dbSNP_134	7	45,8275		0,45,4115	no	missense,missense,missense	ACE	NM_000789.3,NM_001178057.1,NM_152830.2	43,43,43	0,57,6214	AA,AG,GG		0.5409,0.2842,0.4545	probably-damaging,probably-damaging,probably-damaging	1279/1307,664/692,705/733	61574642	57,12485	2111	4160	6271	SO:0001583	missense	1636	exon25			GCCAGCGGCTCTT	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3836G>A	17.37:g.61574642G>A	ENSP00000290866:p.Arg1279Gln	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	27	18	0.666667	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.894563	0.52121	0.002842	0.005409	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.36157	1.27;1.46;1.3;1.4	5.0	1.38	0.22167	.	0.443891	0.20440	N	0.092294	T	0.24470	0.0593	M	0.74881	2.28	0.19775	N	0.999959	B;B;B;B	0.24963	0.037;0.056;0.115;0.016	B;B;B;B	0.19148	0.007;0.008;0.024;0.002	T	0.30592	-0.9973	10	0.66056	D	0.02	-41.0389	3.9711	0.09454	0.3618:0.0:0.4692:0.169	rs4980;rs4980	484;664;705;1279	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	Q	1279;705;664;484	ENSP00000290866:R1279Q;ENSP00000290863:R705Q;ENSP00000392247:R664Q;ENSP00000387760:R484Q	ENSP00000290863:R705Q	R	+	2	0	ACE	58928374	0.856000	0.29760	0.991000	0.47740	0.992000	0.81027	1.973000	0.40550	0.505000	0.28104	0.457000	0.33378	CGG	.	.	weak		0.711	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61574642	G	A	61574642	3	1	23	1	0	0	0	0	1	0	0	0	136	1116	39	1	4137	1	ACE	17	61574642	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	865	61574642	19620568	3981	20437										
KCNH6	81033	hgsc.bcm.edu	37	chr17	61607708	61607708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtttcagagggctctcaTggcaggccaggcggaccagg	16	11	2	1	rs7221517	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:61607708T>C	ENST00000583023.1	+	4	491	c.480T>C	c.(478-480)caT>caC	p.H160H	KCNH6_ENST00000456941.2_Silent_p.H160H|KCNH6_ENST00000581784.1_Silent_p.H160H|KCNH6_ENST00000314672.5_Silent_p.H160H|KCNH6_ENST00000580652.1_Silent_p.H160H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	160					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGGCTCTCATGGCAGGCCAG	0.642													C|||	1439	0.28734	0.27	0.3141	5008	,	,		17600	0.2252		0.3797	False		,,,				2504	0.2607				p.H160H		Atlas-SNP	.											.	KCNH6	122	.	0			c.T480C						PASS	.	C	,	1337,3069	690.5+/-405.3	181,975,1047	84	73	77		480,480	-9.4	0	17	dbSNP_116	77	3044,5556	659.9+/-401.7	586,1872,1842	no	coding-synonymous,coding-synonymous	KCNH6	NM_030779.2,NM_173092.1	,	767,2847,2889	CC,CT,TT		35.3953,30.345,33.6845	,	160/995,160/906	61607708	4381,8625	2203	4300	6503	SO:0001819	synonymous_variant	81033	exon4			CTCTCATGGCAGG	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.480T>C	17.37:g.61607708T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	105	48	0.457143	NM_030779	Q9BRD7	Silent	SNP	ENST00000583023.1	37	CCDS11638.1																																																																																			T|0.671;C|0.329	0.329	strong		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		C	61607708	T	C	61607708	2	2	23	1	0	0	0	0	0	0	0	1	8036	1461	51	2		2	KCNH6	17	61607708	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	33066	61607708	19587502	3982	20438										
CSHL1	1444	hgsc.bcm.edu	37	chr17	61987570	61987570	+	Missense_Mutation	SNP	G	G	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtcctttaggaggtgataGtcatcgctgtccgaggtgtc					rs2727307	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:61987570G>T	ENST00000309894.5	-	4	422	c.423C>A	c.(421-423)gaC>gaA	p.D141E	CSHL1_ENST00000346606.6_Missense_Mutation_p.D47E|CSHL1_ENST00000438387.2_Missense_Mutation_p.D58E|CSHL1_ENST00000450719.3_Missense_Mutation_p.D47E|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.D79E|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.D58E	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141			D -> E (in dbSNP:rs2727307). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGAGGTGATAGTCATCGCTGT	0.592													G|||	1392	0.277955	0.059	0.3256	5008	,	,		19686	0.4196		0.4185	False		,,,				2504	0.2495				p.D141E		Atlas-SNP	.											CSHL1_ENST00000561003,bladder,carcinoma,-2,4	CSHL1	42	4	0			c.C423A						scavenged	.	G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	555,3851	249.3+/-256.8	32,491,1680	90	78	82		141,423,174,354	3.1	0.2	17	dbSNP_100	82	3562,5038	516.7+/-378.9	747,2068,1485	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	45,45,45,45	779,2559,3165	TT,TG,GG		41.4186,12.5965,31.6546	benign,benign,benign,benign	47/129,141/223,58/140,118/200	61987570	4117,8889	2203	4300	6503	SO:0001583	missense	1444	exon4			GTGATAGTCATCG	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.423C>A	17.37:g.61987570G>T	ENSP00000309524:p.Asp141Glu	Somatic	600	5	0.00833333		WXS	Illumina HiSeq	Phase_I	440	163	0.370455	NM_022579	D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	CCDS11652.1	708	0.3241758241758242	38	0.07723577235772358	135	0.3729281767955801	217	0.3793706293706294	318	0.41952506596306066	g	8.404	0.842563	0.16963	0.125965	0.414186	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90261	-2.64;-2.64;-2.64	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.304551	0.31145	N	0.008174	T	0.00012	0.0000	L	0.29908	0.895	0.09310	P	0.99999999455923	B;B;B;B	0.32893	0.007;0.337;0.389;0.337	B;B;B;B	0.38156	0.007;0.173;0.266;0.253	T	0.08411	-1.0723	9	0.87932	D	0	.	8.2735	0.31857	0.0:0.2465:0.7534:0.0	rs2727307;rs57082825	47;58;141;118	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	E	141;58;136;47;136	ENSP00000309524:D141E;ENSP00000402632:D58E;ENSP00000316360:D47E	ENSP00000259003:D136E	D	-	3	2	GH1	59341302	1.000000	0.71417	0.247000	0.24249	0.002000	0.02628	1.431000	0.34925	1.730000	0.51580	0.305000	0.20034	GAC	G|0.670;T|0.330	0.330	strong		0.592	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		T	61987570	G	T	61987570	3	4	23	1	0	0	0	0	1	0	0	0	3942	1020	36	4	253	4	CSHL1	17	61987570	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	379862	61987570	19207640	3983	20439	409	2								
CSHL1	1444	hgsc.bcm.edu	37	chr17	61987576	61987576	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaggaggtgatagtcatcGctgtccgaggtgtcatacac					rs2246207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:61987576G>A	ENST00000309894.5	-	4	416	c.417C>T	c.(415-417)agC>agT	p.S139S	CSHL1_ENST00000346606.6_Silent_p.S45S|CSHL1_ENST00000438387.2_Silent_p.S56S|CSHL1_ENST00000450719.3_Silent_p.S45S|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Silent_p.S77S|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Silent_p.S56S	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	139						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GATAGTCATCGCTGTCCGAGG	0.587													G|||	1952	0.389776	0.4637	0.3501	5008	,	,		19398	0.4196		0.4225	False		,,,				2504	0.2536				p.S139S		Atlas-SNP	.											CSHL1_ENST00000561003,NS,adenoma,0,2	CSHL1	42	2	0			c.C417T						scavenged	.	G	,,,	2165,2241	583.4+/-385.8	538,1089,576	88	76	80		135,417,168,348	-4.3	0	17	dbSNP_100	80	3571,5029	517.8+/-379.1	751,2069,1480	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	,,,	1289,3158,2056	AA,AG,GG		41.5233,49.1375,44.1027	,,,	45/129,139/223,56/140,116/200	61987576	5736,7270	2203	4300	6503	SO:0001819	synonymous_variant	1444	exon4			GTCATCGCTGTCC	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.417C>T	17.37:g.61987576G>A		Somatic	591	4	0.00676819		WXS	Illumina HiSeq	Phase_I	436	165	0.37844	NM_022579	D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	CCDS11652.1																																																																																			G|0.566;A|0.434	0.434	strong		0.587	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		A	61987576	G	A	61987576	2	1	23	1	0	0	0	0	0	0	0	1	3942	1078	38	1		1	CSHL1	17	61987576	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6	61987576	19207634	3984	20440	409	2								
CD79B	974	hgsc.bcm.edu	37	chr17	62007498	62007498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgttgttgcacttctgctgAcagaagtagatgccattgtc	11	8	1	3	rs2070776	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:62007498A>G	ENST00000006750.3	-	3	458	c.366T>C	c.(364-366)tgT>tgC	p.C122C	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.C123C	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	122	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.C122C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						ACTTCTGCTGACAGAAGTAGA	0.577			"Mis, O"		DLBCL								G|||	2813	0.561701	0.6974	0.4841	5008	,	,		21845	0.4881		0.6531	False		,,,				2504	0.4151				p.C123C		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,carcinoma,0,1	CD79B	38	1	1	Substitution - coding silent(1)	stomach(1)	c.T369C						scavenged	.	G	,,	2967,1439	466.2+/-354.4	996,975,232	127	102	111		366,369,	0.6	0.1	17	dbSNP_96	111	5612,2988	462.5+/-365.7	1846,1920,534	no	coding-synonymous,coding-synonymous,intron	CD79B	NM_000626.2,NM_001039933.1,NM_021602.2	,,	2842,2895,766	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	34.7442,32.66,34.0381	,,	122/230,123/231,	62007498	8579,4427	2203	4300	6503	SO:0001819	synonymous_variant	974	exon3			CTGCTGACAGAAG	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.366T>C	17.37:g.62007498A>G		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	151	66	0.437086	NM_001039933	Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	CCDS11655.1																																																																																			A|0.371;G|0.629	0.629	strong		0.577	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			G	62007498	A	G	62007498	2	3	23	1	0	0	0	0	0	0	0	1	3037	273	10	2		2	CD79B	17	62007498	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	19922	62007498	19187712	3985	20441										
SCN4A	6329	hgsc.bcm.edu	37	chr17	62020348	62020348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccttgagctggctctggtTgtctgtctccaccatcatgg	10	13	4	1	rs2058194	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:62020348T>C	ENST00000435607.1	-	23	4202	c.4126A>G	c.(4126-4128)Aac>Gac	p.N1376D	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1376D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1376			N -> D (in dbSNP:rs2058194). {ECO:0000269|PubMed:1315496}.		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N1376D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCTCTGGTTGTCTGTCTCC	0.532													C|||	2812	0.561502	0.7837	0.4697	5008	,	,		24608	0.5377		0.5557	False		,,,				2504	0.3569				p.N1376D		Atlas-SNP	.											SCN4A,NS,carcinoma,0,1	SCN4A	205	1	1	Substitution - Missense(1)	stomach(1)	c.A4126G						scavenged	.	C	ASP/ASN	3221,1185	414.6+/-336.9	1193,835,175	224	209	214		4126	3.9	1	17	dbSNP_94	214	4574,4026	556.3+/-386.8	1265,2044,991	yes	missense	SCN4A	NM_000334.4	23	2458,2879,1166	CC,CT,TT		46.814,26.8951,40.0661	benign	1376/1837	62020348	7795,5211	2203	4300	6503	SO:0001583	missense	6329	exon23			TCTGGTTGTCTGT	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4126A>G	17.37:g.62020348T>C	ENSP00000396320:p.Asn1376Asp	Somatic	406	4	0.00985222		WXS	Illumina HiSeq	Phase_I	413	183	0.443099	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	1282	0.586996336996337	387	0.7865853658536586	184	0.5082872928176796	289	0.5052447552447552	422	0.5567282321899736	C	8.322	0.824528	0.16678	0.731049	0.53186	ENSG00000007314	ENST00000435607	D	0.97328	-4.34	3.87	3.87	0.44632	.	0.050633	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00045	-2.445	0.48288	P	3.769999999999607E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47100	-0.9143	9	0.02654	T	1	.	11.0601	0.47942	0.0:0.9087:0.0:0.0913	rs2058194;rs52833416;rs56720134;rs2058194	1376	P35499	SCN4A_HUMAN	D	1376	ENSP00000396320:N1376D	ENSP00000396320:N1376D	N	-	1	0	SCN4A	59374080	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	4.799000	0.62517	0.993000	0.38866	-0.355000	0.07637	AAC	T|0.407;C|0.593	0.593	strong		0.532	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		C	62020348	T	C	62020348	3	2	23	1	0	0	0	0	1	0	0	0	13920	1812	63	2	1392	2	SCN4A	17	62020348	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12850	62020348	19174862	3986	20442										
LRRC37A3	374819	hgsc.bcm.edu	37	chr17	62892031	62892031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggatggcgggaggttctaCatcattacctgaccctgaga	12	10	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:62892031C>T	ENST00000584306.1	-	3	1875	c.1345G>A	c.(1345-1347)Gta>Ata	p.V449I	RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V449I|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	449						integral component of membrane (GO:0016021)		p.V449I(4)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGAGGTTCTACATCATTACCT	0.542																																					p.V449I		Atlas-SNP	.											LRRC37A3,NS,carcinoma,0,4	LRRC37A3	75	4	4	Substitution - Missense(4)	kidney(4)	c.G1345A						scavenged	.						1	1	1					17																	62892031		69	307	376	SO:0001583	missense	374819	exon3			GTTCTACATCATT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1345G>A	17.37:g.62892031C>T	ENSP00000464535:p.Val449Ile	Somatic	470	3	0.00638298		WXS	Illumina HiSeq	Phase_I	367	51	0.138965	NM_199340	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287768	0.40494	.	.	ENSG00000176809	ENST00000319651	T	0.66460	-0.21	2.12	-2.37	0.06643	.	.	.	.	.	T	0.47060	0.1425	L	0.42245	1.32	0.80722	P	0.0	B	0.29716	0.255	B	0.22152	0.038	T	0.37686	-0.9695	8	0.42905	T	0.14	.	0.6971	0.00901	0.2393:0.3528:0.2366:0.1713	.	449	O60309	L37A3_HUMAN	I	449	ENSP00000325713:V449I	ENSP00000325713:V449I	V	-	1	0	LRRC37A3	60322493	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.266000	0.02842	-0.164000	0.10927	0.162000	0.16502	GTA	T|1.000;|0.000	1.000	weak		0.542	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		T	62892031	C	T	62892031	3	4	23	1	0	0	0	0	1	0	0	0	8993	478	17	2	3607	2	LRRC37A3	17	62892031	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	871683	62892031	18303179	3987	20443										
LRRC37A3	374819	hgsc.bcm.edu	37	chr17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacagagacactgggtgaaGctaaatgatgagtttgatgg	13	5	1	5	rs17857225		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																					p.A406D		Atlas-SNP	.											LRRC37A3,NS,carcinoma,0,1	LRRC37A3	75	1	0			c.C1217A						scavenged	.						1	1	1					17																	62892159		292	887	1179	SO:0001583	missense	374819	exon3			GGTGAAGCTAAAT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp	Somatic	923	3	0.00325027		WXS	Illumina HiSeq	Phase_I	830	59	0.0710843	NM_199340	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	.	.	weak		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		T	62892159	G	T	62892159	3	4	23	1	0	0	0	0	1	0	0	0	8993	971	34	4	3735	4	LRRC37A3	17	62892159	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	128	62892159	18303051	3988	20444										
CCDC46	201134	hgsc.bcm.edu	37	chr17	64023624	64023624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cataaaacatattaccttttTttcatagatgtgttttaaat	3	5	1	1	rs17704679	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:64023624T>C	ENST00000392769.2	-	16	1869	c.1651A>G	c.(1651-1653)Aaa>Gaa	p.K551E	CEP112_ENST00000541355.1_Missense_Mutation_p.K186E|CEP112_ENST00000535342.2_Missense_Mutation_p.K551E|CEP112_ENST00000537949.1_Missense_Mutation_p.K509E	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	551			K -> E (in dbSNP:rs17704679). {ECO:0000269|PubMed:14702039}.		receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTACCTTTTTTTCATAGATG	0.239													T|||	1908	0.38099	0.5991	0.317	5008	,	,		16784	0.0913		0.5249	False		,,,				2504	0.2822				p.K551E		Atlas-SNP	.											.	CEP112	192	.	0			c.A1651G						PASS	.	T	GLU/LYS,GLU/LYS	2540,1732		783,974,379	31	31	31		1651,1651	3.3	1	17	dbSNP_123	31	4730,3652		1396,1938,857	yes	missense,missense	CEP112	NM_001199165.1,NM_145036.3	56,56	2179,2912,1236	CC,CT,TT		43.5696,40.5431,42.5478	benign,benign	551/956,551/956	64023624	7270,5384	2136	4191	6327	SO:0001583	missense	201134	exon16			CCTTTTTTTCATA	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1651A>G	17.37:g.64023624T>C	ENSP00000376522:p.Lys551Glu	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	228	127	0.557018	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	875	0.40064102564102566	288	0.5853658536585366	123	0.3397790055248619	66	0.11538461538461539	398	0.525065963060686	T	17.86	3.491676	0.64074	0.594569	0.564304	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.51	3.27	0.37495	.	0.286088	0.37530	N	0.002050	T	0.00012	0.0000	L	0.39397	1.21	0.35545	P	0.19661399999999996	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.39078	-0.9631	9	0.14252	T	0.57	-4.5094	9.033	0.36271	0.0:0.1516:0.0:0.8484	rs17704679;rs17704679	509;551	F5GYE8;Q8N8E3	.;CE112_HUMAN	E	551;551;186;509	ENSP00000442784:K551E;ENSP00000376522:K551E;ENSP00000443711:K186E;ENSP00000440775:K509E	ENSP00000376522:K551E	K	-	1	0	CEP112	61454086	0.998000	0.40836	0.982000	0.44146	0.996000	0.88848	3.243000	0.51392	0.877000	0.35895	0.528000	0.53228	AAA	C|0.474;N|0.000	0.474	strong		0.239	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		C	64023624	T	C	64023624	3	2	23	1	0	0	0	0	1	0	0	0	2817	1850	64	2	1430	2	CCDC46	17	64023624	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1131465	64023624	17171586	3989	20445										
CCDC46	201134	hgsc.bcm.edu	37	chr17	64025331	64025331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatgttttgctcataatcAtttacaagatggtccttctc	5	9	4	1	rs11652766	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:64025331A>G	ENST00000392769.2	-	14	1631	c.1413T>C	c.(1411-1413)aaT>aaC	p.N471N	CEP112_ENST00000541355.1_Silent_p.N106N|CEP112_ENST00000535342.2_Silent_p.N471N|CEP112_ENST00000537949.1_Silent_p.N429N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	471					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTCATAATCATTTACAAGAT	0.294													A|||	1907	0.380791	0.5983	0.317	5008	,	,		16744	0.0903		0.5249	False		,,,				2504	0.2832				p.N471N		Atlas-SNP	.											.	CEP112	192	.	0			c.T1413C						PASS	.	A	,	2567,1835	633.9+/-396.1	755,1057,389	194	183	187		1413,1413	-1.7	0.5	17	dbSNP_120	187	4717,3879	604.7+/-394.8	1301,2115,882	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	2056,3172,1271	GG,GA,AA		45.1256,41.6856,43.9606	,	471/956,471/956	64025331	7284,5714	2201	4298	6499	SO:0001819	synonymous_variant	201134	exon14			ATAATCATTTACA	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1413T>C	17.37:g.64025331A>G		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	234	115	0.491453	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	CCDS32710.1																																																																																			A|0.507;G|0.493	0.493	strong		0.294	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		G	64025331	A	G	64025331	2	3	23	1	0	0	0	0	0	0	0	1	2817	214	8	2		2	CCDC46	17	64025331	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1707	64025331	17169879	3990	20446										
BPTF	2186	hgsc.bcm.edu	37	chr17	65955758	65955759	+	In_Frame_Ins	INS	-	-	CCTCCAGCC													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccccagtgacaccagctINScctccagcccctccagcccc					rs139709271|rs202116659		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:65955758_65955759insCCTCCAGCC	ENST00000321892.4	+	26	8467_8468	c.8406_8407insCCTCCAGCC	c.(8407-8409)cct>CCTCCAGCCcct	p.2803_2803P>PPAP	BPTF_ENST00000424123.3_In_Frame_Ins_p.2521_2521P>PPAP|BPTF_ENST00000335221.5_In_Frame_Ins_p.2660_2660P>PPAP|BPTF_ENST00000306378.6_In_Frame_Ins_p.2677_2677P>PPAP			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2803	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2676A(1)|p.A2659A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACAccagctcctccagcccc	0.579																																					p.A2676delinsAPPA		Pindel,Atlas-Indel	.											BPTF_ENST00000335221,rectum,carcinoma,0,2	BPTF	415	2	2	Substitution - coding silent(2)	large_intestine(2)	c.8028_8029insCCTCCAGCC						PASS	.																																			SO:0001652	inframe_insertion	2186	exon24			.	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8416_8424dupCCTCCAGCC	17.37:g.65955759_65955767dupCCTCCAGCC	ENSP00000315454:p.ProAlaPro2809dup	Somatic	207	.	.		WXS	Illumina HiSeq	Phase_I	106	46	0.434	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS	ENST00000321892.4	37																																																																																				-|0.707;CCTCCAGCC|0.293	0.293	strong		0.579	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		CCTCCAGCC	65955759	-	CCTCCAGCC	65955758	7	5	23	1	0	1	1	0	0	0	0	0	1495	1538	54	0	8508	0	BPTF	17	65955758	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	1930427	65955758	15239452	3991	20447										
ARSG	22901	hgsc.bcm.edu	37	chr17	66366659	66366659	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcactggattttggcaaactCgtcaaggtaaggggctcagc	12	9	3	0	rs144503106	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:66366659C>G	ENST00000448504.2	+	8	1772	c.976C>G	c.(976-978)Cgt>Ggt	p.R326G	ARSG_ENST00000452479.2_Missense_Mutation_p.R162G|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	326					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R326C(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGGCAAACTCGTCAAGGTAA	0.552													C|||	19	0.00379393	0.0008	0.0058	5008	,	,		18113	0.001		0.0129	False		,,,				2504	0.0				p.R326G		Atlas-SNP	.											ARSG,rectum,carcinoma,0,1	ARSG	55	1	1	Substitution - Missense(1)	large_intestine(1)	c.C976G						PASS	.	C	GLY/ARG	12,4394	20.2+/-43.8	0,12,2191	99	82	87		976	4	0	17	dbSNP_134	87	186,8414	82.6+/-145.2	1,184,4115	yes	missense	ARSG	NM_014960.3	125	1,196,6306	GG,GC,CC		2.1628,0.2724,1.5224	benign	326/526	66366659	198,12808	2203	4300	6503	SO:0001583	missense	22901	exon8			CAAACTCGTCAAG	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.976C>G	17.37:g.66366659C>G	ENSP00000407193:p.Arg326Gly	Somatic	270	1	0.0037037		WXS	Illumina HiSeq	Phase_I	253	130	0.513834	NM_001267727	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	C	4.144	0.025005	0.08054	0.002724	0.021628	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.0	3.97	0.46021	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.826360	0.11156	N	0.593620	T	0.11623	0.0283	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13098	-1.0522	9	0.11794	T	0.64	.	7.5126	0.27583	0.1953:0.6383:0.1664:0.0	.	326	Q96EG1	ARSG_HUMAN	G	326;225	.	ENSP00000407193:R225G	R	+	1	0	ARSG	63878254	0.000000	0.05858	0.018000	0.16275	0.037000	0.13140	0.480000	0.22244	2.596000	0.87737	0.561000	0.74099	CGT	C|0.988;G|0.012	0.012	strong		0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		G	66366659	C	G	66366659	3	3	23	1	0	0	0	0	1	0	0	0	992	884	31	4	1002	4	ARSG	17	66366659	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	410901	66366659	14828551	3992	20448										
ABCA8	10351	hgsc.bcm.edu	37	chr17	66878099	66878099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcatactccttgcgtagaCagctggcaatgatgactggc	11	11	0	3	rs34987539	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:66878099C>T	ENST00000269080.2	-	29	3868	c.3731G>A	c.(3730-3732)tGt>tAt	p.C1244Y	ABCA8_ENST00000586539.1_Missense_Mutation_p.C1284Y|ABCA8_ENST00000430352.2_Missense_Mutation_p.C1284Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1244					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTGCGTAGACAGCTGGCAAT	0.408													C|||	26	0.00519169	0.0008	0.0029	5008	,	,		23456	0.001		0.0169	False		,,,				2504	0.0051				p.C1244Y		Atlas-SNP	.											.	ABCA8	213	.	0			c.G3731A						PASS	.	C	TYR/CYS	13,4393	19.1+/-41.9	0,13,2190	135	126	129		3731	4.8	1	17	dbSNP_126	129	101,8499	56.0+/-117.1	1,99,4200	yes	missense	ABCA8	NM_007168.2	194	1,112,6390	TT,TC,CC		1.1744,0.2951,0.8765	probably-damaging	1244/1582	66878099	114,12892	2203	4300	6503	SO:0001583	missense	10351	exon29			CGTAGACAGCTGG	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3731G>A	17.37:g.66878099C>T	ENSP00000269080:p.Cys1244Tyr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	118	64	0.542373	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	15	0.006868131868131868	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	13	0.017150395778364115	C	16.93	3.258878	0.59321	0.002951	0.011744	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.85629	-2.01;-2.01	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000018	D	0.88081	0.6341	M	0.89840	3.065	0.39548	D	0.968927	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.79784	0.993;0.964;0.984	D	0.90611	0.4552	10	0.62326	D	0.03	.	12.7575	0.57343	0.0:0.9174:0.0:0.0826	rs34987539	1284;1284;1244	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	Y	1244;1284	ENSP00000269080:C1244Y;ENSP00000402814:C1284Y	ENSP00000269080:C1244Y	C	-	2	0	ABCA8	64389694	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.751000	0.26348	2.623000	0.88846	0.563000	0.77884	TGT	C|0.992;T|0.008	0.008	strong		0.408	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66878099	C	T	66878099	3	4	23	1	0	0	0	0	1	0	0	0	38	478	17	2	1054	2	ABCA8	17	66878099	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	511440	66878099	14317111	3993	20449										
ABCA5	23461	hgsc.bcm.edu	37	chr17	67290840	67290840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttctttctgtatgtcttcTgaataccactaattctgaaa	4	10	5	2	rs17686569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:67290840T>C	ENST00000392676.3	-	11	1515	c.1451A>G	c.(1450-1452)cAg>cGg	p.Q484R	ABCA5_ENST00000392677.2_Missense_Mutation_p.Q484R|ABCA5_ENST00000588877.1_Missense_Mutation_p.Q484R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	484	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		Q -> R (in dbSNP:rs17686569). {ECO:0000269|PubMed:12504089}.		cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTATGTCTTCTGAATACCACT	0.274													T|||	720	0.14377	0.2375	0.1945	5008	,	,		13946	0.0456		0.1412	False		,,,				2504	0.0849				p.Q484R		Atlas-SNP	.											.	ABCA5	162	.	0			c.A1451G						PASS	.	T	ARG/GLN,ARG/GLN	1040,3366	382.1+/-324.3	127,786,1290	77	80	79		1451,1451	4.8	1	17	dbSNP_123	79	1232,7364	246.8+/-275.1	83,1066,3149	yes	missense,missense	ABCA5	NM_018672.3,NM_172232.2	43,43	210,1852,4439	CC,CT,TT		14.3322,23.6042,17.4742	benign,benign	484/1643,484/1643	67290840	2272,10730	2203	4298	6501	SO:0001583	missense	23461	exon10			GTCTTCTGAATAC	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1451A>G	17.37:g.67290840T>C	ENSP00000376443:p.Gln484Arg	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	54	1	NM_018672	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	304	0.1391941391941392	120	0.24390243902439024	60	0.16574585635359115	16	0.027972027972027972	108	0.1424802110817942	T	11.71	1.719576	0.30503	0.236042	0.143322	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.38240	1.15;1.15	4.83	4.83	0.62350	ABC transporter-like (1);	0.231149	0.31145	N	0.008171	T	0.00012	0.0000	N	0.01679	-0.765	0.25480	P	0.9877487	B;B	0.25850	0.136;0.101	B;B	0.20184	0.028;0.017	T	0.28870	-1.0030	8	.	.	.	.	13.2667	0.60137	0.0:0.0:0.0:1.0	rs17686569;rs56415964;rs17686569	484;484	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	484	ENSP00000376444:Q484R;ENSP00000376443:Q484R	.	Q	-	2	0	ABCA5	64802435	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.539000	0.45718	1.919000	0.55581	0.460000	0.39030	CAG	T|0.839;C|0.161	0.161	strong		0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		C	67290840	T	C	67290840	3	2	23	1	0	0	0	0	1	0	0	0	35	1580	55	3	3593	3	ABCA5	17	67290840	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	412741	67290840	13904370	3994	20450										
ABCA5	23461	hgsc.bcm.edu	37	chr17	67304447	67304447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggcagcatctatggatgCttgtaaaactgtgaaacctg	10	7	1	1	rs11544715	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:67304447C>T	ENST00000392676.3	-	5	596	c.532G>A	c.(532-534)Gca>Aca	p.A178T	ABCA5_ENST00000392677.2_Missense_Mutation_p.A178T|ABCA5_ENST00000588877.1_Missense_Mutation_p.A178T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	178			A -> T (in dbSNP:rs11544715). {ECO:0000269|PubMed:12504089}.		cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCTATGGATGCTTGTAAAACT	0.348													C|||	621	0.124002	0.1672	0.1888	5008	,	,		15784	0.0446		0.1412	False		,,,				2504	0.0838				p.A178T		Atlas-SNP	.											ABCA5,NS,carcinoma,0,1	ABCA5	162	1	0			c.G532A						PASS	.	C	THR/ALA,THR/ALA	743,3663	306.0+/-289.3	55,633,1515	91	97	95		532,532	3.4	1	17	dbSNP_120	95	1225,7375	247.1+/-275.3	82,1061,3157	yes	missense,missense	ABCA5	NM_018672.3,NM_172232.2	58,58	137,1694,4672	TT,TC,CC		14.2442,16.8634,15.1315	probably-damaging,probably-damaging	178/1643,178/1643	67304447	1968,11038	2203	4300	6503	SO:0001583	missense	23461	exon4			TGGATGCTTGTAA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.532G>A	17.37:g.67304447C>T	ENSP00000376443:p.Ala178Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	70	70	1	NM_018672	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	269	0.12316849816849818	87	0.17682926829268292	58	0.16022099447513813	16	0.027972027972027972	108	0.1424802110817942	C	12.87	2.067960	0.36470	0.168634	0.142442	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.2;-2.2	4.65	3.44	0.39384	.	0.109437	0.39909	N	0.001230	T	0.00496	0.0016	L	0.39020	1.185	0.29930	P	0.82195	B;B	0.12013	0.004;0.005	B;B	0.14578	0.006;0.011	T	0.33574	-0.9863	8	.	.	.	.	11.3468	0.49565	0.0:0.8391:0.0:0.1609	rs11544715;rs52811902;rs57749310;rs11544715	178;178	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	178	ENSP00000376444:A178T;ENSP00000376443:A178T	.	A	-	1	0	ABCA5	64816042	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	1.077000	0.30741	2.118000	0.64928	0.460000	0.39030	GCA	C|0.866;T|0.134	0.134	strong		0.348	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		T	67304447	C	T	67304447	3	4	23	1	0	0	0	0	1	0	0	0	35	797	28	2	4536	2	ABCA5	17	67304447	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13607	67304447	13890763	3995	20451										
SDK2	54549	hgsc.bcm.edu	37	chr17	71344769	71344769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agatttctgagggcttctccGtcaggctgctgctctctgca	11	12	4	2	rs199591952		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:71344769G>A	ENST00000392650.3	-	44	6134	c.6134C>T	c.(6133-6135)aCg>aTg	p.T2045M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.T2026M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2045					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGCTTCTCCGTCAGGCTGCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16899	0.001		0.0	False		,,,				2504	0.0				p.T2045M		Atlas-SNP	.											.	SDK2	219	.	0			c.C6134T						PASS	.						61	54	56					17																	71344769		2203	4299	6502	SO:0001583	missense	54549	exon44			TTCTCCGTCAGGC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6134C>T	17.37:g.71344769G>A	ENSP00000376421:p.Thr2045Met	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	67	34	0.507463	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.3	4.399737	0.83120	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.62941	-0.01;0.03;1.29	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	T	0.80042	-0.1548	10	0.87932	D	0	.	16.6634	0.85247	0.0:0.0:1.0:0.0	.	2045;2026	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	M	1669;2045;2026;1202;2045;386	ENSP00000376421:T2045M;ENSP00000373378:T2026M;ENSP00000407098:T1202M	ENSP00000324967:T2045M	T	-	2	0	SDK2	68856364	1.000000	0.71417	0.919000	0.36401	0.935000	0.57460	7.721000	0.84768	2.204000	0.70986	0.563000	0.77884	ACG	A|0.000;G|1.000	0.000	strong		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71344769	G	A	71344769	3	1	23	1	0	0	0	0	1	0	0	0	13969	1145	40	1	392	1	SDK2	17	71344769	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4040322	71344769	9850441	3996	20452										
CD300A	11314	hgsc.bcm.edu	37	chr17	72469958	72469958	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtgtggggtggatacaccAtggctccgagactttcatga					rs1127737	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:72469958A>G	ENST00000360141.3	+	2	612	c.324A>G	c.(322-324)ccA>ccG	p.P108P	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	108	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGGATACACCATGGCTCCGAG	0.567													a|||	3441	0.687101	0.9614	0.6657	5008	,	,		17609	0.7212		0.4483	False		,,,				2504	0.5419				p.P108P		Atlas-SNP	.											.	CD300A	40	.	0			c.A324G						PASS	.	G		3914,492	781.4+/-414.5	1743,428,32	122	132	128		324	-6.8	0	17	dbSNP_86	128	3721,4879	530.4+/-381.8	802,2117,1381	no	coding-synonymous	CD300A	NM_007261.2		2545,2545,1413	GG,GA,AA		43.2674,11.1666,41.2963		108/300	72469958	7635,5371	2203	4300	6503	SO:0001819	synonymous_variant	11314	exon2			TACACCATGGCTC	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.324A>G	17.37:g.72469958A>G		Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	263	107	0.406844	NM_007261	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	CCDS32720.1																																																																																			A|0.418;G|0.582	0.582	strong		0.567	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		G	72469958	A	G	72469958	2	3	23	1	0	0	0	0	0	0	0	1	2996	204	8	2		2	CD300A	17	72469958	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1125189	72469958	8725252	3997	20453	410	2								
CD300A	11314	hgsc.bcm.edu	37	chr17	72469966	72469966	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggatacaccatggctccGagactttcatgatcccgttg					rs2272111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:72469966G>A	ENST00000360141.3	+	2	620	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	111	Ig-like V-type.		R -> Q (in dbSNP:rs2272111). {ECO:0000269|PubMed:12483297, ECO:0000269|Ref.2}.		cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCATGGCTCCGAGACTTTCAT	0.567													G|||	1731	0.345647	0.705	0.2161	5008	,	,		17525	0.1964		0.1978	False		,,,				2504	0.2577				p.R111Q		Atlas-SNP	.											.	CD300A	40	.	0			c.G332A						PASS	.	G	GLN/ARG	2763,1643	659.8+/-400.6	875,1013,315	125	131	129		332	-2.2	0	17	dbSNP_100	129	1761,6839	319.5+/-314.2	187,1387,2726	no	missense	CD300A	NM_007261.2	43	1062,2400,3041	AA,AG,GG		20.4767,37.2901,34.7839	benign	111/300	72469966	4524,8482	2203	4300	6503	SO:0001583	missense	11314	exon2			GGCTCCGAGACTT	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.332G>A	17.37:g.72469966G>A	ENSP00000353259:p.Arg111Gln	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	243	104	0.427984	NM_007261	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	652	0.29853479853479853	334	0.6788617886178862	71	0.19613259668508287	107	0.18706293706293706	140	0.18469656992084432	G	0.945	-0.708406	0.03230	0.627099	0.204767	ENSG00000167851	ENST00000360141	T	0.02863	4.13	1.13	-2.22	0.06952	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.16368	0.405	0.58432	P	1.999999999946489E-6	B	0.15473	0.013	B	0.16289	0.015	T	0.11717	-1.0576	8	0.12103	T	0.63	.	4.3704	0.11244	0.4976:0.0:0.5024:0.0	rs2272111;rs11869780;rs59752364;rs2272111	111	Q9UGN4	CLM8_HUMAN	Q	111	ENSP00000353259:R111Q	ENSP00000353259:R111Q	R	+	2	0	CD300A	69981561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.049000	0.00629	-0.558000	0.06118	-1.277000	0.01392	CGA	.	.	weak		0.567	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		A	72469966	G	A	72469966	3	1	23	1	0	0	0	0	1	0	0	0	2996	1058	37	1	338	1	CD300A	17	72469966	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8	72469966	8725244	3998	20454	410	2								
CD300C	10871	hgsc.bcm.edu	37	chr17	72541052	72541052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggatccccccacggggccCgccacggtcatggggtggct	16	15	1	0	rs2292107	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:72541052C>T	ENST00000330793.1	-	2	456	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	32	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCACGGGGCCCGCCACGGTCA	0.567													C|||	297	0.0593051	0.0219	0.0951	5008	,	,		19241	0.005		0.1163	False		,,,				2504	0.0818				p.A32A	Esophageal Squamous(66;421 1121 20537 25337 27468)	Atlas-SNP	.											CD300C,NS,carcinoma,-2,1	CD300C	41	1	0			c.G96A						PASS	.	C		145,4261	93.4+/-132.2	2,141,2060	42	47	45		96	-8.7	0	17	dbSNP_100	45	1132,7468	218.8+/-257.1	73,986,3241	no	coding-synonymous	CD300C	NM_006678.3		75,1127,5301	TT,TC,CC		13.1628,3.291,9.8185		32/225	72541052	1277,11729	2203	4300	6503	SO:0001819	synonymous_variant	10871	exon2			GGGGCCCGCCACG	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.96G>A	17.37:g.72541052C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	94	49	0.521277	NM_006678		Silent	SNP	ENST00000330793.1	37	CCDS11701.1																																																																																			C|0.911;T|0.089	0.089	strong		0.567	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		T	72541052	C	T	72541052	2	4	23	1	0	0	0	0	0	0	0	1	2997	639	23	1		1	CD300C	17	72541052	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	71086	72541052	8654158	3999	20455										
C17orf77	146723	hgsc.bcm.edu	37	chr17	72588806	72588806	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgctggagaaagcccatgCcccaggcttcttccaggcag	11	14	1	1	rs545652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:72588806C>A	ENST00000392620.1	+	3	983	c.621C>A	c.(619-621)tgC>tgA	p.C207*	C17orf77_ENST00000328023.2_Nonsense_Mutation_p.C207*|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	207						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AAAGCCCATGCCCCAGGCTTC	0.607													C|||	1120	0.223642	0.5189	0.1441	5008	,	,		19490	0.0476		0.1392	False		,,,				2504	0.1493				p.C207X		Atlas-SNP	.											C17orf77,colon,carcinoma,0,1	C17orf77	31	1	0			c.C621A						PASS	.	C	stop/CYS	1969,2437	555.4+/-379.2	435,1099,669	79	80	79		621	2.4	0	17	dbSNP_83	79	1485,7115	280.5+/-294.5	138,1209,2953	yes	stop-gained	C17orf77	NM_152460.2		573,2308,3622	AA,AC,CC		17.2674,44.6891,26.557		207/244	72588806	3454,9552	2203	4300	6503	SO:0001587	stop_gained	146723	exon3			CCCATGCCCCAGG		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.621C>A	17.37:g.72588806C>A	ENSP00000376396:p.Cys207*	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	133	75	0.56391	NM_152460		Nonsense_Mutation	SNP	ENST00000392620.1	37	CCDS32721.1	453	0.20741758241758243	256	0.5203252032520326	67	0.1850828729281768	22	0.038461538461538464	108	0.1424802110817942	C	22.9	4.351629	0.82132	0.446891	0.172674	ENSG00000182352	ENST00000392620;ENST00000328023	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.37000	P	0.10478399999999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3461	0.32275	0.0:1.0:0.0:0.0	rs545652;rs545652	.	.	.	X	207	.	.	C	+	3	2	C17orf77	70100401	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-0.036000	0.12185	1.642000	0.50584	0.511000	0.50034	TGC	C|0.751;A|0.249	0.249	strong		0.607	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		A	72588806	C	A	72588806	4	1	23	1	0	0	0	0	0	1	0	0	1882	747	26	4	623	4	C17orf77	17	72588806	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47754	72588806	8606404	4000	20456										
CDR2L	30850	hgsc.bcm.edu	37	chr17	73000061	73000061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgtggacaagcggctggaAcagagccagcccgagtacaa	14	12	0	1	rs3744203	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73000061A>G	ENST00000337231.5	+	5	1702	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	430												all_lung(278;0.226)					AGCGGCTGGAACAGAGCCAGC	0.612													G|||	2336	0.466454	0.7504	0.513	5008	,	,		15723	0.1935		0.4225	False		,,,				2504	0.3763				p.E430E		Atlas-SNP	.											HUMPPA,NS,carcinoma,0,1	.	.	1	0			c.A1290G						PASS	.	G		3061,1345		1067,927,209	27	24	25		1290	3	1	17	dbSNP_107	25	3324,5272		636,2052,1610	no	coding-synonymous	CDR2L	NM_014603.2		1703,2979,1819	GG,GA,AA		38.6691,30.5266,49.1078		430/466	73000061	6385,6617	2203	4298	6501	SO:0001819	synonymous_variant	30850	exon5			GCTGGAACAGAGC		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"paraneoplastic antigen"						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.1290A>G	17.37:g.73000061A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	109	109	1	NM_014603	B4DFA7|Q15175	Silent	SNP	ENST00000337231.5	37	CCDS11710.2																																																																																			A|0.528;G|0.472	0.472	strong		0.612	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		G	73000061	A	G	73000061	2	3	23	1	0	0	0	0	0	0	0	1	3173	40	2	2		2	CDR2L	17	73000061	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	411255	73000061	8195149	4001	20457										
ICT1	3396	hgsc.bcm.edu	37	chr17	73016621	73016621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggttaggagagttgatcctCacctctgagagcagccgcta	12	10	2	3	rs1044228	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73016621C>T	ENST00000301585.5	+	5	418	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	135					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGTTGATCCTCACCTCTGAGA	0.473													C|||	1602	0.319888	0.3306	0.4582	5008	,	,		18349	0.1875		0.3618	False		,,,				2504	0.3006				p.L135L		Atlas-SNP	.											.	ICT1	17	.	0			c.C405T						PASS	.	C		1446,2960	457.8+/-351.8	245,956,1002	56	58	57		405	-0.2	1	17	dbSNP_86	57	2716,5884	429.3+/-356.2	410,1896,1994	no	coding-synonymous	ICT1	NM_001545.1		655,2852,2996	TT,TC,CC		31.5814,32.8189,32.0006		135/207	73016621	4162,8844	2203	4300	6503	SO:0001819	synonymous_variant	3396	exon5			GATCCTCACCTCT	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.405C>T	17.37:g.73016621C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	111	108	0.972973	NM_001545	B2RAD1|Q53HM7|Q53Y11	Silent	SNP	ENST00000301585.5	37	CCDS11711.1																																																																																			C|0.689;T|0.311	0.311	strong		0.473	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		T	73016621	C	T	73016621	2	4	23	1	0	0	0	0	0	0	0	1	7488	813	29	2		2	ICT1	17	73016621	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16560	73016621	8178589	4002	20458										
SLC16A5	9121	hgsc.bcm.edu	37	chr17	73089852	73089852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggcatcttcttcactgaaTtgcaatgggagttccaggcc	10	11	3	1	rs4788863	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73089852T>C	ENST00000450736.2	+	2	536	c.121T>C	c.(121-123)Ttg>Ctg	p.L41L	SLC16A5_ENST00000580123.1_Silent_p.L41L|SLC16A5_ENST00000538213.2_Silent_p.L81L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L41L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	41					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTTCACTGAATTGCAATGGGA	0.632													C|||	3132	0.625399	0.7186	0.6412	5008	,	,		20101	0.3442		0.7127	False		,,,				2504	0.6881				p.L41L		Atlas-SNP	.											SLC16A5_ENST00000450736,NS,carcinoma,0,2	SLC16A5	80	2	0			c.T121C						PASS	.	C		3245,1161	411.5+/-335.8	1186,873,144	143	123	130		121	4.8	0.2	17	dbSNP_111	130	6255,2345	390.7+/-343.4	2274,1707,319	no	coding-synonymous	SLC16A5	NM_004695.2		3460,2580,463	CC,CT,TT		27.2674,26.3504,26.9568		41/506	73089852	9500,3506	2203	4300	6503	SO:0001819	synonymous_variant	9121	exon3			ACTGAATTGCAAT	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.121T>C	17.37:g.73089852T>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	143	143	1	NM_001271765	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																			T|0.323;C|0.677	0.677	strong		0.632	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		C	73089852	T	C	73089852	2	2	23	1	0	0	0	0	0	0	0	1	14411	1490	52	2		2	SLC16A5	17	73089852	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	73231	73089852	8105358	4003	20459										
NUP85	79902	hgsc.bcm.edu	37	chr17	73205976	73205976	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcatccgtaaggatgtagaTgtttactctcaaatcttgag	8	7	3	2	rs34126097	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73205976T>C	ENST00000245544.4	+	3	257	c.186T>C	c.(184-186)gaT>gaC	p.D62D	NUP85_ENST00000579298.1_Silent_p.D62D|NUP85_ENST00000541827.1_Silent_p.D16D|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	62					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGGATGTAGATGTTTACTCTC	0.353													T|||	256	0.0511182	0.0053	0.0331	5008	,	,		18261	0.0685		0.1103	False		,,,				2504	0.047				p.D62D		Atlas-SNP	.											.	NUP85	44	.	0			c.T186C						PASS	.	T		79,4327	68.1+/-105.8	0,79,2124	68	73	72		186	0.9	0.9	17	dbSNP_126	72	851,7749	193.7+/-239.3	48,755,3497	no	coding-synonymous	NUP85	NM_024844.3		48,834,5621	CC,CT,TT		9.8953,1.793,7.1505		62/657	73205976	930,12076	2203	4300	6503	SO:0001819	synonymous_variant	79902	exon3			TGTAGATGTTTAC	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.186T>C	17.37:g.73205976T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	85	36	0.423529	NM_024844	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	CCDS32730.1																																																																																			T|0.929;C|0.071	0.071	strong		0.353	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		C	73205976	T	C	73205976	2	2	23	1	0	0	0	0	0	0	0	1	10770	1461	51	2		2	NUP85	17	73205976	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	116124	73205976	7989234	4004	20460										
GGA3	23163	hgsc.bcm.edu	37	chr17	73234805	73234806	+	Frame_Shift_Ins	INS	-	-	TCTG													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggctaaatggagagagtINStctgtcccagaaggtggctg							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73234805_73234806insTCTG	ENST00000245541.6	-	16	2204_2205	c.1988_1989insCAGA	c.(1987-1989)gaafs	p.E663fs	GGA3_ENST00000582717.1_Frame_Shift_Ins_p.E591fs|GGA3_ENST00000538886.1_Frame_Shift_Ins_p.E541fs|GGA3_ENST00000578348.1_Frame_Shift_Ins_p.E541fs|GGA3_ENST00000582486.1_Frame_Shift_Ins_p.E591fs|GGA3_ENST00000351904.7_Frame_Shift_Ins_p.E630fs	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	663	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ATGGAGAGAGTTCTGTCCCAGA	0.535											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E663fs		Pindel,Atlas-Indel	.											GGA3,NS,carcinoma,0,1	GGA3	54	1	0			c.1989_1990insCAGA						PASS	.																																			SO:0001589	frameshift_variant	23163	exon16			.	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1985_1988dupCAGA	17.37:g.73234806_73234809dupTCTG	ENSP00000245541:p.Glu663fs	Somatic	203	.	.	1143	WXS	Illumina HiSeq	Phase_I	205	45	0.22	NM_138619	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Frame_Shift_Ins	INS	ENST00000245541.6	37	CCDS11717.1																																																																																			.	.	none		0.535	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		TCTG	73234806	-	TCTG	73234805	7	5	23	1	0	1	1	0	0	0	0	0	6354	1722	60	0	278	0	GGA3	17	73234805	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	28829	73234805	7960405	4005	20461										
KIAA0195	9772	hgsc.bcm.edu	37	chr17	73493874	73493874	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttttcagcatctctctgctGgggaagcccccccatagctc	8	16	3	0	rs12949173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73493874G>C	ENST00000314256.7	+	27	3814	c.3420G>C	c.(3418-3420)ctG>ctC	p.L1140L	KIAA0195_ENST00000579208.1_Silent_p.L791L|KIAA0195_ENST00000375248.5_Silent_p.L1150L|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1140						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTCTCTGCTGGGGAAGCCCC	0.522													G|||	302	0.0603035	0.0068	0.0994	5008	,	,		18836	0.0		0.1889	False		,,,				2504	0.0348				p.L1140L		Atlas-SNP	.											.	KIAA0195	102	.	0			c.G3420C						PASS	.	G		171,4235	112.9+/-151.0	2,167,2034	87	74	79		3420	3.7	1	17	dbSNP_121	79	1884,6716	335.6+/-321.5	217,1450,2633	no	coding-synonymous	KIAA0195	NM_014738.4		219,1617,4667	CC,CG,GG		21.907,3.8811,15.8004		1140/1357	73493874	2055,10951	2203	4300	6503	SO:0001819	synonymous_variant	9772	exon27			TCTGCTGGGGAAG		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3420G>C	17.37:g.73493874G>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	104	52	0.5	NM_014738	O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	CCDS32732.1																																																																																			G|0.863;C|0.137	0.137	strong		0.522	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		C	73493874	G	C	73493874	2	2	23	1	0	0	0	0	0	0	0	1	8160	1335	47	4		4	KIAA0195	17	73493874	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	259069	73493874	7701336	4006	20462										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73566561	73566561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccagccggaagcggcacccGgctggccccccaggagaggt	15	16	0	1	rs2305525	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73566561G>A	ENST00000392550.3	+	16	2124	c.2007G>A	c.(2005-2007)ccG>ccA	p.P669P	LLGL2_ENST00000577200.1_Silent_p.P669P|LLGL2_ENST00000167462.5_Silent_p.P669P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	669					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCGGCACCCGGCTGGCCCCC	0.711													G|||	561	0.112021	0.0151	0.1383	5008	,	,		13691	0.1498		0.1839	False		,,,				2504	0.1115				p.P669P		Atlas-SNP	.											.	LLGL2	155	.	0			c.G2007A						PASS	.	G	,	222,4008		28,166,1921	8	9	9		2007,2007	-7.3	0	17	dbSNP_100	9	1904,6478		280,1344,2567	no	coding-synonymous,coding-synonymous	LLGL2	NM_001031803.1,NM_004524.2	,	308,1510,4488	AA,AG,GG		22.7153,5.2482,16.857	,	669/1021,669/1016	73566561	2126,10486	2115	4191	6306	SO:0001819	synonymous_variant	3993	exon16			GCACCCGGCTGGC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2007G>A	17.37:g.73566561G>A		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	36	18	0.5	NM_004524	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			G|0.868;A|0.132	0.132	strong		0.711	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		A	73566561	G	A	73566561	2	1	23	1	0	0	0	0	0	0	0	1	8834	1103	39	1		1	LLGL2	17	73566561	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	72687	73566561	7628649	4007	20463										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73567846	73567846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgagcggagaatggatgagCctgtgcgggcagagcagggt	19	8	0	3	rs1661715	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73567846C>T	ENST00000392550.3	+	18	2392	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S	LLGL2_ENST00000577200.1_Missense_Mutation_p.P759S|LLGL2_ENST00000167462.5_Missense_Mutation_p.P759S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	759			P -> S (in dbSNP:rs1661715). {ECO:0000269|PubMed:15489334}.		cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AATGGATGAGCCTGTGCGGGC	0.697													C|||	1552	0.309904	0.5915	0.2435	5008	,	,		17459	0.1508		0.2823	False		,,,				2504	0.1687				p.P759S		Atlas-SNP	.											LLGL2_ENST00000167462,rectum,carcinoma,0,6	LLGL2	155	6	0			c.C2275T						PASS	.	C	SER/PRO,SER/PRO	2440,1962		693,1054,454	29	31	30		2275,2275	4.4	0.8	17	dbSNP_89	30	2542,6054		397,1748,2153	yes	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	74,74	1090,2802,2607	TT,TC,CC		29.5719,44.5706,38.329	benign,benign	759/1021,759/1016	73567846	4982,8016	2201	4298	6499	SO:0001583	missense	3993	exon18			GATGAGCCTGTGC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2275C>T	17.37:g.73567846C>T	ENSP00000376333:p.Pro759Ser	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	71	39	0.549296	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	711	0.32554945054945056	322	0.6544715447154471	87	0.24033149171270718	81	0.14160839160839161	221	0.29155672823219	C	12.78	2.039977	0.35989	0.554294	0.295719	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.08008	3.14;3.26	5.4	4.41	0.53225	.	0.209202	0.51477	D	0.000100	T	0.00012	0.0000	L	0.57536	1.79	0.27633	P	0.947969	B;P;B;B	0.36789	0.434;0.57;0.01;0.003	B;B;B;B	0.39904	0.166;0.313;0.015;0.004	T	0.06516	-1.0822	9	0.33141	T	0.24	-0.6264	10.9596	0.47376	0.1462:0.713:0.1408:0.0	rs1661715;rs17855941;rs60583153;rs1661715	748;748;759;759	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;L2GL2_HUMAN	S	759;759;748	ENSP00000167462:P759S;ENSP00000376333:P759S	ENSP00000167462:P759S	P	+	1	0	LLGL2	71079441	0.854000	0.29725	0.840000	0.33206	0.932000	0.56968	2.448000	0.44926	1.245000	0.43885	0.549000	0.68633	CCT	C|0.622;T|0.378	0.378	strong		0.697	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73567846	C	T	73567846	3	4	23	1	0	0	0	0	1	0	0	0	8834	739	26	2	2376	2	LLGL2	17	73567846	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1285	73567846	7627364	4008	20464										
LLGL2	3993	hgsc.bcm.edu	37	chr17	73568055	73568055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacacagcgtaccccttccCgagcccctcgaagtggccca	10	18	0	0	rs1661714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73568055C>T	ENST00000392550.3	+	19	2487	c.2370C>T	c.(2368-2370)ccC>ccT	p.P790P	LLGL2_ENST00000577200.1_Silent_p.P790P|LLGL2_ENST00000167462.5_Silent_p.P790P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	790			P -> L (in dbSNP:rs1661714).		cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACCCCTTCCCGAGCCCCTCG	0.637													C|||	1089	0.217452	0.2995	0.2133	5008	,	,		15679	0.1508		0.2346	False		,,,				2504	0.1605				p.P790P		Atlas-SNP	.											.	LLGL2	155	.	0			c.C2370T						PASS	.	C	,	1133,3273	397.0+/-330.2	148,837,1218	41	38	39		2370,2370	-9.6	0.4	17	dbSNP_89	39	2297,6303	381.7+/-340.1	319,1659,2322	no	coding-synonymous,coding-synonymous	LLGL2	NM_001031803.1,NM_004524.2	,	467,2496,3540	TT,TC,CC		26.7093,25.7149,26.3724	,	790/1021,790/1016	73568055	3430,9576	2203	4300	6503	SO:0001819	synonymous_variant	3993	exon19			CCTTCCCGAGCCC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2370C>T	17.37:g.73568055C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_004524	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			C|0.747;T|0.253	0.253	strong		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73568055	C	T	73568055	2	4	23	1	0	0	0	0	0	0	0	1	8834	639	23	1		1	LLGL2	17	73568055	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	209	73568055	7627155	4009	20465										
ACOX1	51	hgsc.bcm.edu	37	chr17	73949540	73949540	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctatccttaccctggcttGatttcagactggtgcctcac	7	15	2	2	rs1135640	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:73949540G>C	ENST00000301608.4	-	7	996	c.936C>G	c.(934-936)atC>atG	p.I312M	ACOX1_ENST00000537812.1_Missense_Mutation_p.I274M|ACOX1_ENST00000293217.5_Missense_Mutation_p.I312M|ACOX1_ENST00000591857.1_5'Flank	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	312			I -> M (in dbSNP:rs1135640). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:8040306, ECO:0000269|PubMed:8117268}.		alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ACCCTGGCTTGATTTCAGACT	0.507													G|||	2758	0.550719	0.1589	0.6729	5008	,	,		19337	0.7877		0.6402	False		,,,				2504	0.6575				p.I312M		Atlas-SNP	.											.	ACOX1	85	.	0			c.C936G						PASS	.	G	MET/ILE,MET/ILE,MET/ILE	1034,3372	380.4+/-323.7	122,790,1291	106	87	94		822,936,936	5.2	1	17	dbSNP_86	94	5582,3018	663.4+/-402.1	1825,1932,543	yes	missense,missense,missense	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	10,10,10	1947,2722,1834	CC,CG,GG		35.093,23.468,49.1312	benign,benign,benign	274/623,312/661,312/661	73949540	6616,6390	2203	4300	6503	SO:0001583	missense	51	exon7			TGGCTTGATTTCA	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.936C>G	17.37:g.73949540G>C	ENSP00000301608:p.Ile312Met	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	222	97	0.436937	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	1251	0.5728021978021978	85	0.17276422764227642	229	0.6325966850828729	433	0.756993006993007	504	0.6649076517150396	G	13.17	2.156848	0.38119	0.23468	0.64907	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.70282	-0.47;-0.47;-0.47	6.17	5.2	0.72013	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.200754	0.50627	D	0.000111	T	0.00012	0.0000	L	0.28458	0.855	0.23351	P	0.99785757	B;B;B;B	0.13145	0.003;0.0;0.0;0.007	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.47086	-0.9144	9	0.35671	T	0.21	-22.5782	7.546	0.27768	0.0666:0.167:0.6551:0.1114	rs1135640;rs1137582;rs3198449;rs3201363;rs11550765;rs17420148;rs17583121;rs17850378;rs17850653;rs52804397;rs56586913;rs1137582	244;274;312;312	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	M	312;312;274;312;244	ENSP00000301608:I312M;ENSP00000293217:I312M;ENSP00000441257:I274M	ENSP00000293217:I312M	I	-	3	3	ACOX1	71461135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.086000	0.30853	2.941000	0.99782	0.655000	0.94253	ATC	G|0.477;C|0.523	0.523	strong		0.507	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			C	73949540	G	C	73949540	3	2	23	1	0	0	0	0	1	0	0	0	158	1280	45	4	1078	4	ACOX1	17	73949540	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	381485	73949540	7245670	4010	20466										
RNF157	114804	hgsc.bcm.edu	37	chr17	74162548	74162548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaatcgcccctaccgtctcCttcatccaccacggcatgta	6	17	2	0	rs11539879	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:74162548C>T	ENST00000269391.6	-	6	754	c.622G>A	c.(622-624)Gga>Aga	p.G208R	RNF157_ENST00000319945.6_Missense_Mutation_p.G208R	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	208			G -> R (in dbSNP:rs11539879).				zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTACCGTCTCCTTCATCCACC	0.483													C|||	80	0.0159744	0.0023	0.0086	5008	,	,		20731	0.0		0.0616	False		,,,				2504	0.0092				p.G208R	GBM(186;507 2120 27388 27773 52994)	Atlas-SNP	.											.	RNF157	66	.	0			c.G622A						PASS	.	C	ARG/GLY	45,4361	46.0+/-80.4	0,45,2158	135	126	129		622	5.4	1	17	dbSNP_120	129	438,8162	133.8+/-191.2	14,410,3876	yes	missense	RNF157	NM_052916.2	125	14,455,6034	TT,TC,CC		5.093,1.0213,3.7137	probably-damaging	208/680	74162548	483,12523	2203	4300	6503	SO:0001583	missense	114804	exon6			CGTCTCCTTCATC	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.622G>A	17.37:g.74162548C>T	ENSP00000269391:p.Gly208Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	69	32	0.463768	NM_052916	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	52	0.023809523809523808	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	47	0.06200527704485488	C	31	5.092725	0.94149	0.010213	0.05093	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.30714	1.52;1.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.77004	0.989;0.899	T	0.18618	-1.0331	10	0.56958	D	0.05	-2.3942	19.1467	0.93472	0.0:1.0:0.0:0.0	rs11539879;rs16968649;rs52823252;rs56594131;rs11539879	208;208	Q96PX1-2;Q96PX1	.;RN157_HUMAN	R	208;208;170	ENSP00000269391:G208R;ENSP00000321837:G208R	ENSP00000269391:G208R	G	-	1	0	RNF157	71674143	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.683000	0.84093	2.684000	0.91462	0.655000	0.94253	GGA	C|0.968;T|0.032	0.032	strong		0.483	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		T	74162548	C	T	74162548	3	4	23	1	0	0	0	0	1	0	0	0	13454	690	24	2	1473	2	RNF157	17	74162548	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	213008	74162548	7032662	4011	20467										
RHBDF2	79651	hgsc.bcm.edu	37	chr17	74473329	74473329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatccctcggaagtagctggCagagagtgggggggactcaa	17	8	1	1	rs140433374		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:74473329C>T	ENST00000313080.4	-	8	1213	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000591885.1_Missense_Mutation_p.A285T|RHBDF2_ENST00000389760.4_Missense_Mutation_p.A285T	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	314					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AAGTAGCTGGCAGAGAGTGGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0				p.A314T		Atlas-SNP	.											.	RHBDF2	57	.	0			c.G940A						PASS	.	C	THR/ALA,THR/ALA	0,4404		0,0,2202	30	35	33		853,940	5.5	1	17	dbSNP_134	33	9,8591	6.4+/-24.3	0,9,4291	yes	missense,missense	RHBDF2	NM_001005498.3,NM_024599.5	58,58	0,9,6493	TT,TC,CC		0.1047,0.0,0.0692	possibly-damaging,possibly-damaging	285/828,314/857	74473329	9,12995	2202	4300	6502	SO:0001583	missense	79651	exon8			AGCTGGCAGAGAG	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.940G>A	17.37:g.74473329C>T	ENSP00000322775:p.Ala314Thr	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	138	74	0.536232	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.4	4.830924	0.91036	0.0	0.001047	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.69561	-0.41;-0.41	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	L	0.56769	1.78	0.50632	D	0.999886	D;P;P;P	0.69078	0.997;0.866;0.891;0.799	D;P;B;P	0.67548	0.952;0.507;0.439;0.615	T	0.73920	-0.3830	10	0.26408	T	0.33	-38.8792	19.4819	0.95013	0.0:1.0:0.0:0.0	.	285;260;314;285	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	T	314;285;260	ENSP00000322775:A314T;ENSP00000374410:A285T	ENSP00000322775:A314T	A	-	1	0	RHBDF2	71984924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.534000	0.67167	2.595000	0.87683	0.655000	0.94253	GCC	C|0.999;T|0.001	0.001	strong		0.582	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		T	74473329	C	T	74473329	3	4	23	1	0	0	0	0	1	0	0	0	13320	710	25	2	1678	2	RHBDF2	17	74473329	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	310781	74473329	6721881	4012	20468										
RHBDF2	79651	hgsc.bcm.edu	37	chr17	74475975	74475975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggcaggcggtggtgtgtgCagcccaggtcctgggctggc	20	10	0	0	rs3809694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:74475975C>A	ENST00000313080.4	-	4	472	c.199G>T	c.(199-201)Gca>Tca	p.A67S	RHBDF2_ENST00000592378.1_Intron|RHBDF2_ENST00000591885.1_Intron|RHBDF2_ENST00000389760.4_Intron	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	67				A -> S (in Ref. 2; BAF84824 and 4; AAH16034). {ECO:0000305}.	negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GTGGTGTGTGCAGCCCAGGTC	0.547													C|||	2285	0.45627	0.2587	0.5764	5008	,	,		9807	0.6052		0.4652	False		,,,				2504	0.4755				p.A67S		Atlas-SNP	.											RHBDF2,colon,carcinoma,+1,1	RHBDF2	57	1	0			c.G199T						PASS	.	C	,SER/ALA	1298,3108	416.3+/-337.5	180,938,1085	31	30	30		,199	-2	0	17	dbSNP_130	30	3956,4640	517.9+/-379.1	897,2162,1239	yes	intron,missense	RHBDF2	NM_001005498.3,NM_024599.5	,99	1077,3100,2324	AA,AC,CC		46.0214,29.4598,40.4092	,	,67/857	74475975	5254,7748	2203	4298	6501	SO:0001583	missense	79651	exon4			TGTGTGCAGCCCA	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.199G>T	17.37:g.74475975C>A	ENSP00000322775:p.Ala67Ser	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	1015	0.46474358974358976	125	0.2540650406504065	195	0.5386740331491713	346	0.6048951048951049	349	0.4604221635883905	C	8.467	0.856677	0.17106	0.294598	0.460214	ENSG00000129667	ENST00000313080	T	0.54675	0.56	4.23	-2.03	0.07365	.	2.935030	0.01893	N	0.038673	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.41998	-0.9477	9	0.19590	T	0.45	7.7057	10.8665	0.46858	0.0:0.5646:0.301:0.1344	rs3809694	67	Q6PJF5	RHDF2_HUMAN	S	67	ENSP00000322775:A67S	ENSP00000322775:A67S	A	-	1	0	RHBDF2	71987570	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.503000	0.06383	-0.407000	0.07576	-0.955000	0.02649	GCA	C|0.600;A|0.400	0.400	strong		0.547	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		A	74475975	C	A	74475975	3	1	23	1	0	0	0	0	1	0	0	0	13320	710	25	4	2435	4	RHBDF2	17	74475975	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2646	74475975	6719235	4013	20469										
ST6GALNAC1	55808	hgsc.bcm.edu	37	chr17	74625517	74625517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttgccctctgggtgacagTgtgttcaccatggttttctc	10	11	4	1	rs139045542	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:74625517T>C	ENST00000156626.7	-	2	607	c.408A>G	c.(406-408)acA>acG	p.T136T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	136					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGGTGACAGTGTGTTCACCA	0.587													T|||	9	0.00179712	0.0	0.0072	5008	,	,		19622	0.0		0.004	False		,,,				2504	0.0				p.T136T		Atlas-SNP	.											.	ST6GALNAC1	42	.	0			c.A408G						PASS	.	T		3,4403	6.2+/-15.9	0,3,2200	177	162	167		408	-7.6	0	17	dbSNP_134	167	49,8551	31.7+/-84.0	0,49,4251	no	coding-synonymous	ST6GALNAC1	NM_018414.3		0,52,6451	CC,CT,TT		0.5698,0.0681,0.3998		136/601	74625517	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	55808	exon2			TGACAGTGTGTTC	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.408A>G	17.37:g.74625517T>C		Somatic	386	0	0		WXS	Illumina HiSeq	Phase_I	395	204	0.516456	NM_018414	Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	CCDS11748.1																																																																																			T|0.996;C|0.004	0.004	strong		0.587	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		C	74625517	T	C	74625517	2	2	23	1	0	0	0	0	0	0	0	1	15222	1683	59	2		2	ST6GALNAC1	17	74625517	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	149542	74625517	6569693	4014	20470										
MGAT5B	146664	hgsc.bcm.edu	37	chr17	74921072	74921072	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaggggtaccgccaggccgGggaagctgcccgctcaccat	14	14	1	0	rs3889145	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:74921072G>C	ENST00000569840.2	+	9	1624	c.1050G>C	c.(1048-1050)cgG>cgC	p.R350R	MGAT5B_ENST00000428789.2_Silent_p.R361R|MGAT5B_ENST00000301618.4_Silent_p.R350R	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	350					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCAGGCCGGGGAAGCTGCC	0.612													G|||	1087	0.217053	0.1884	0.1988	5008	,	,		10952	0.1677		0.2157	False		,,,				2504	0.3211				p.R361R		Atlas-SNP	.											MGAT5B,NS,carcinoma,0,2	MGAT5B	98	2	0			c.G1083C						scavenged	.	G	,,	857,3549	333.9+/-303.2	85,687,1431	83	87	86		1050,1050,1083	2.1	1	17	dbSNP_108	86	2021,6579	352.0+/-328.5	231,1559,2510	no	coding-synonymous,coding-synonymous,coding-synonymous	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	,,	316,2246,3941	CC,CG,GG		23.5,19.4507,22.1282	,,	350/793,350/791,361/802	74921072	2878,10128	2203	4300	6503	SO:0001819	synonymous_variant	146664	exon8			AGGCCGGGGAAGC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1050G>C	17.37:g.74921072G>C		Somatic	91	2	0.021978		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	CCDS59299.1																																																																																			G|0.785;C|0.215	0.215	strong		0.612	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		C	74921072	G	C	74921072	2	2	23	1	0	0	0	0	0	0	0	1	9549	1219	43	4		4	MGAT5B	17	74921072	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295555	74921072	6274138	4015	20471										
TK1	7083	hgsc.bcm.edu	37	chr17	76178748	76178748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggagcaggcaggcgggcagTgcctccatggtgttcctggg	18	11	0	0	rs1143697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76178748T>C	ENST00000301634.7	-	4	463	c.225A>G	c.(223-225)gcA>gcG	p.A75A	TK1_ENST00000590862.1_Silent_p.A75A|TK1_ENST00000590430.1_Intron|TK1_ENST00000588734.1_Silent_p.A75A|TK1_ENST00000405273.1_Silent_p.A75A	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	75					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)	p.A75A(1)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	AGGCGGGCAGTGCCTCCATGG	0.632													C|||	3416	0.682109	0.8707	0.6686	5008	,	,		14475	0.622		0.4523	False		,,,				2504	0.7352				p.A75A		Atlas-SNP	.											TK1_ENST00000301634,NS,carcinoma,0,1	TK1	23	1	1	Substitution - coding silent(1)	stomach(1)	c.A225G						PASS	.	C		3616,782		1501,614,84	44	30	35		225	-11	0.1	17	dbSNP_86	35	3810,4784		851,2108,1338	no	coding-synonymous	TK1	NM_003258.4		2352,2722,1422	CC,CT,TT		44.3333,17.7808,42.8417		75/235	76178748	7426,5566	2199	4297	6496	SO:0001819	synonymous_variant	7083	exon4			GGGCAGTGCCTCC		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.225A>G	17.37:g.76178748T>C		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	35	21	0.6	NM_003258	B2RC58|Q969V0|Q9UMG9	Silent	SNP	ENST00000301634.7	37	CCDS11754.1																																																																																			T|0.400;G|0.007	.	strong		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		C	76178748	T	C	76178748	2	2	23	1	0	0	0	0	0	0	0	1	15929	1683	59	2		2	TK1	17	76178748	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1257676	76178748	5016462	4016	20472										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76433899	76433899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggctgcccgtgctgtagtGctccagcttcttgtccagtg	12	12	1	0	rs386799532|rs61742072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76433899G>A	ENST00000585328.1	-	74	11966	c.11842C>T	c.(11842-11844)Cac>Tac	p.H3948Y	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.H3947Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3947	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGCTGTAGTGCTCCAGCTTC	0.617													G|||	530	0.105831	0.0257	0.1095	5008	,	,		17133	0.1012		0.1889	False		,,,				2504	0.1309				p.H3953Y		Atlas-SNP	.											DNAH17,NS,carcinoma,+1,1	DNAH17	347	1	0			c.C11857T						PASS	.	G	TYR/HIS	203,4201		5,193,2004	48	49	49		11857	3	1	17	dbSNP_129	49	1438,7158		136,1166,2996	yes	missense	DNAH17	NM_173628.3	83	141,1359,5000	AA,AG,GG		16.7287,4.6094,12.6231	benign	3953/4463	76433899	1641,11359	2202	4298	6500	SO:0001583	missense	8632	exon74			TGTAGTGCTCCAG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11842C>T	17.37:g.76433899G>A	ENSP00000465516:p.His3948Tyr	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	108	63	0.583333	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		278	0.12728937728937728	30	0.06097560975609756	46	0.1270718232044199	59	0.10314685314685315	143	0.18865435356200527	G	12.35	1.912274	0.33721	0.046094	0.167287	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08282	3.11	5.07	2.96	0.34315	.	0.000000	0.53938	D	0.000049	T	0.00012	0.0000	L	0.43554	1.36	0.51767	P	6.60000000000105E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.33940	T	0.23	.	14.0729	0.64870	0.0:0.0:0.6129:0.387	.	3948	E7EUM8	.	Y	3948;3947	ENSP00000374490:H3947Y	ENSP00000300671:H3948Y	H	-	1	0	DNAH17	73945494	0.997000	0.39634	0.997000	0.53966	0.720000	0.41350	2.564000	0.45931	1.112000	0.41740	0.561000	0.74099	CAC	G|0.865;A|0.135	0.135	strong		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76433899	G	A	76433899	3	1	23	1	0	0	0	0	1	0	0	0	4601	1319	46	2	1563	2	DNAH17	17	76433899	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	255151	76433899	4761311	4017	20473										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76455218	76455218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgatgttgatgcaccaggaGcacaggccggcggcggccgt	16	12	0	1	rs2289754	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76455218G>A	ENST00000585328.1	-	61	9835	c.9711C>T	c.(9709-9711)tgC>tgT	p.C3237C	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.C3228C	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3228	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCACCAGGAGCACAGGCCGG	0.652													G|||	1105	0.220647	0.1392	0.3458	5008	,	,		17683	0.249		0.1382	False		,,,				2504	0.2975				p.C3242C		Atlas-SNP	.											DNAH17,NS,lymphoid_neoplasm,-1,2	DNAH17	347	2	0			c.C9726T						scavenged	.	G		618,3788	268.6+/-268.5	42,534,1627	168	180	176		9726	3	1	17	dbSNP_100	176	1327,7273	260.3+/-283.2	102,1123,3075	no	coding-synonymous	DNAH17	NM_173628.3		144,1657,4702	AA,AG,GG		15.4302,14.0263,14.9546		3242/4463	76455218	1945,11061	2203	4300	6503	SO:0001819	synonymous_variant	8632	exon61			CCAGGAGCACAGG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9711C>T	17.37:g.76455218G>A		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	111	49	0.441441	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.835;A|0.165	0.165	strong		0.652	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76455218	G	A	76455218	2	1	23	1	0	0	0	0	0	0	0	1	4601	963	34	2		2	DNAH17	17	76455218	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21319	76455218	4739992	4018	20474										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76472768	76472768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatgtagccaaaggcggacGaggtccagtggggttttcag	15	8	2	0	rs7405830	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76472768G>A	ENST00000585328.1	-	52	8149	c.8025C>T	c.(8023-8025)ctC>ctT	p.L2675L	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.L2666L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2666					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAAGGCGGACGAGGTCCAGTG	0.507													A|||	1881	0.375599	0.761	0.2435	5008	,	,		20560	0.2798		0.1909	False		,,,				2504	0.2372				p.L2680L		Atlas-SNP	.											.	DNAH17	347	.	0			c.C8040T						PASS	.	A		2623,1379		873,877,251	110	124	119		8040	-9.5	0.4	17	dbSNP_116	119	1610,6712		158,1294,2709	no	coding-synonymous	DNAH17	NM_173628.3		1031,2171,2960	AA,AG,GG		19.3463,34.4578,34.3476		2680/4463	76472768	4233,8091	2001	4161	6162	SO:0001819	synonymous_variant	8632	exon52			GCGGACGAGGTCC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8025C>T	17.37:g.76472768G>A		Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	270	143	0.52963	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.641;A|0.359	0.359	strong		0.507	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76472768	G	A	76472768	2	1	23	1	0	0	0	0	0	0	0	1	4601	1045	37	1		1	DNAH17	17	76472768	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17550	76472768	4722442	4019	20475										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76488794	76488794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttggggtccaggtccacGgcgaccggcttcctcttcag	13	15	2	0	rs76641546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76488794G>A	ENST00000585328.1	-	42	6571	c.6447C>T	c.(6445-6447)gcC>gcT	p.A2149A	DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.A2140A|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2140	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCAGGTCCACGGCGACCGGCT	0.587													G|||	17	0.00339457	0.0	0.0043	5008	,	,		16651	0.0		0.0139	False		,,,				2504	0.0				p.A2154A		Atlas-SNP	.											.	DNAH17	347	.	0			c.C6462T						PASS	.	G		7,3935		0,7,1964	63	67	66		6462	-9.5	0	17	dbSNP_133	66	78,8248		1,76,4086	no	coding-synonymous	DNAH17	NM_173628.3		1,83,6050	AA,AG,GG		0.9368,0.1776,0.6929		2154/4463	76488794	85,12183	1971	4163	6134	SO:0001819	synonymous_variant	8632	exon42			GTCCACGGCGACC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6447C>T	17.37:g.76488794G>A		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	129	68	0.527132	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|0.994;A|0.006	0.006	strong		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76488794	G	A	76488794	2	1	23	1	0	0	0	0	0	0	0	1	4601	1103	39	1		1	DNAH17	17	76488794	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16026	76488794	4706416	4020	20476										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76503624	76503624	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggagccgatgaagatgctCtccaggtggctccaggttcg	14	11	1	2	rs626439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76503624C>T	ENST00000585328.1	-	28	4615	c.4491G>A	c.(4489-4491)gaG>gaA	p.E1497E	DNAH17_ENST00000389840.5_Silent_p.E1496E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1496	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAAGATGCTCTCCAGGTGGC	0.597													C|||	1621	0.323682	0.1906	0.4164	5008	,	,		19385	0.4583		0.2406	False		,,,				2504	0.3845				p.E1500E		Atlas-SNP	.											.	DNAH17	347	.	0			c.G4500A						PASS	.	C		776,3486		77,622,1432	46	53	51		4500	4	1	17	dbSNP_83	51	1990,6540		240,1510,2515	no	coding-synonymous	DNAH17	NM_173628.3		317,2132,3947	TT,TC,CC		23.3294,18.2074,21.6229		1500/4463	76503624	2766,10026	2131	4265	6396	SO:0001819	synonymous_variant	8632	exon28			GATGCTCTCCAGG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4491G>A	17.37:g.76503624C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	122	60	0.491803	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				C|0.716;T|0.284	0.284	strong		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76503624	C	T	76503624	2	4	23	1	0	0	0	0	0	0	0	1	4601	912	32	2		2	DNAH17	17	76503624	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14830	76503624	4691586	4021	20477										
CANT1	124583	hgsc.bcm.edu	37	chr17	76993546	76993546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagagcagccagaggatggcAgcacccacaaagaacgtcag	12	12	1	3	rs8077024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:76993546A>G	ENST00000302345.2	-	2	653	c.159T>C	c.(157-159)gcT>gcC	p.A53A	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.A53A|CANT1_ENST00000392446.5_Silent_p.A53A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGAGGATGGCAGCACCCACAA	0.697			T	ETV4	prostate								G|||	2221	0.44349	0.4062	0.4366	5008	,	,		9965	0.6716		0.2734	False		,,,				2504	0.4387				p.A53A		Atlas-SNP	.		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	.	CANT1	39	.	0			c.T159C						PASS	.	G	,,	1785,2615		370,1045,785	14	18	17		159,159,159	-3	0	17	dbSNP_116	17	2383,6201		335,1713,2244	no	coding-synonymous,coding-synonymous,coding-synonymous	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	705,2758,3029	GG,GA,AA		27.761,40.5682,32.101	,,	53/402,53/402,53/402	76993546	4168,8816	2200	4292	6492	SO:0001819	synonymous_variant	124583	exon4			GATGGCAGCACCC	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.159T>C	17.37:g.76993546A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	99	34	0.343434	NM_001159772	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	CCDS11760.1																																																																																			A|0.572;G|0.428	0.428	strong		0.697	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		G	76993546	A	G	76993546	2	3	23	1	0	0	0	0	0	0	0	1	2617	175	7	3		3	CANT1	17	76993546	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	489922	76993546	4201664	4022	20478										
ENPP7	339221	hgsc.bcm.edu	37	chr17	77707422	77707422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggtgggacaacggcagcGtgcccatctggatcacagcc	15	12	2	0	rs145931726		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:77707422G>A	ENST00000328313.5	+	2	591	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.V124M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAACGGCAGCGTGCCCATCTG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0				p.V124M		Atlas-SNP	.											ENPP7,NS,carcinoma,0,1	ENPP7	63	1	1	Substitution - Missense(1)	kidney(1)	c.G370A						scavenged	.	G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	61	44	49		370	-9.6	0	17	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ENPP7	NM_178543.3	21	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	benign	124/459	77707422	6,13000	2203	4300	6503	SO:0001583	missense	339221	exon2			GGCAGCGTGCCCA	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.370G>A	17.37:g.77707422G>A	ENSP00000332656:p.Val124Met	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	120	3	0.025	NM_178543		Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.61	2.885963	0.51908	9.08E-4	2.33E-4	ENSG00000182156	ENST00000328313	T	0.74632	-0.86	4.78	-9.56	0.00566	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.415210	0.22119	N	0.064366	T	0.50274	0.1606	N	0.25485	0.75	0.25781	N	0.984728	B	0.31209	0.313	B	0.32805	0.153	T	0.38866	-0.9641	10	0.39692	T	0.17	-11.4596	7.7023	0.28630	0.146:0.5996:0.1089:0.1454	.	124	Q6UWV6	ENPP7_HUMAN	M	124	ENSP00000332656:V124M	ENSP00000332656:V124M	V	+	1	0	ENPP7	75322017	0.000000	0.05858	0.017000	0.16124	0.973000	0.67179	-0.316000	0.08071	-1.934000	0.01051	0.591000	0.81541	GTG	G|1.000;A|0.000	0.000	strong		0.622	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		A	77707422	G	A	77707422	3	1	23	1	0	0	0	0	1	0	0	0	5135	1145	40	1	376	1	ENPP7	17	77707422	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	713876	77707422	3487788	4023	20479										
CBX2	84733	hgsc.bcm.edu	37	chr17	77758691	77758691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccagcactggacagaacccGtcagtgtccgttcagaccag	10	15	2	2	rs3751957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:77758691G>A	ENST00000310942.4	+	5	1553	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	483					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GACAGAACCCGTCAGTGTCCG	0.637													g|||	2119	0.423123	0.6694	0.3458	5008	,	,		16653	0.4058		0.2087	False		,,,				2504	0.3834				p.P483P		Atlas-SNP	.											CBX2,mucosal,malignant_melanoma,+2,1	CBX2	50	1	0			c.G1449A						PASS	.	A		2594,1812	634.6+/-396.2	771,1052,380	59	53	55		1449	-3.2	0	17	dbSNP_107	55	2071,6529	358.1+/-331.0	263,1545,2492	no	coding-synonymous	CBX2	NM_005189.2		1034,2597,2872	AA,AG,GG		24.0814,41.1257,35.8681		483/533	77758691	4665,8341	2203	4300	6503	SO:0001819	synonymous_variant	84733	exon5			GAACCCGTCAGTG	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1449G>A	17.37:g.77758691G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	77	39	0.506494	NM_005189	Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	CCDS32757.1																																																																																			G|0.630;A|0.370	0.370	strong		0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		A	77758691	G	A	77758691	2	1	23	1	0	0	0	0	0	0	0	1	2718	1132	40	1		1	CBX2	17	77758691	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	51269	77758691	3436519	4024	20480										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78023722	78023722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagcccctgatggtaagattCcaggctgccctgaagaacta	10	11	0	4	rs2289531	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78023722C>T	ENST00000397545.4	+	6	900	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CCDC40_ENST00000269318.5_Silent_p.F291F|CCDC40_ENST00000374877.3_Silent_p.F291F|CCDC40_ENST00000374876.4_Silent_p.F291F	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	291					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.F291F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGTAAGATTCCAGGCTGCCC	0.562													C|||	562	0.11222	0.121	0.062	5008	,	,		18960	0.1617		0.0924	False		,,,				2504	0.1053				p.F291F		Atlas-SNP	.											CCDC40,NS,carcinoma,0,1	CCDC40	198	1	1	Substitution - coding silent(1)	stomach(1)	c.C873T						PASS	.	C		417,3537		20,377,1580	81	89	87		873	4.1	1	17	dbSNP_100	87	775,7537		34,707,3415	no	coding-synonymous	CCDC40	NM_017950.3		54,1084,4995	TT,TC,CC		9.3239,10.5463,9.7179		291/1143	78023722	1192,11074	1977	4156	6133	SO:0001819	synonymous_variant	55036	exon6			AAGATTCCAGGCT	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.873C>T	17.37:g.78023722C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	94	40	0.425532	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																			C|0.893;T|0.107	0.107	strong		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78023722	C	T	78023722	2	4	23	1	0	0	0	0	0	0	0	1	2812	854	30	2		2	CCDC40	17	78023722	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	265031	78023722	3171488	4025	20481										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78071052	78071052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgattctcctaggccaccgaTgagtgcaccaaaaccgtcct	8	14	1	2	rs12952612	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78071052T>C	ENST00000397545.4	+	19	3057	c.3030T>C	c.(3028-3030)gaT>gaC	p.D1010D		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1010					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCCACCGATGAGTGCACCA	0.572													C|||	3577	0.714257	0.7088	0.5663	5008	,	,		21540	0.6567		0.7614	False		,,,				2504	0.8374				p.D1010D		Atlas-SNP	.											CCDC40,NS,carcinoma,0,1	CCDC40	198	1	0			c.T3030C						PASS	.	C		2864,1182		1015,834,174	68	74	72		3030	-1.2	0	17	dbSNP_121	72	6261,2071		2345,1571,250	no	coding-synonymous	CCDC40	NM_017950.3		3360,2405,424	CC,CT,TT		24.856,29.214,26.2805		1010/1143	78071052	9125,3253	2023	4166	6189	SO:0001819	synonymous_variant	55036	exon19			CACCGATGAGTGC	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3030T>C	17.37:g.78071052T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																			T|0.282;C|0.718	0.718	strong		0.572	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		C	78071052	T	C	78071052	2	2	23	1	0	0	0	0	0	0	0	1	2812	1461	51	2		2	CCDC40	17	78071052	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	47330	78071052	3124158	4026	20482										
GAA	2548	hgsc.bcm.edu	37	chr17	78084769	78084769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagccttccaacttcatcagGggctctgaggacggctgccc	12	14	3	1	rs1042396	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78084769G>A	ENST00000302262.3	+	11	1800	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	GAA_ENST00000390015.3_Silent_p.R527R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	527					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.R527R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACTTCATCAGGGGCTCTGAGG	0.597													G|||	799	0.159545	0.034	0.2579	5008	,	,		17055	0.1091		0.2724	False		,,,				2504	0.1953				p.R527R		Atlas-SNP	.											GAA,NS,carcinoma,0,1	GAA	66	1	1	Substitution - coding silent(1)	stomach(1)	c.G1581A						PASS	.	G	,,	301,4105	164.0+/-195.7	13,275,1915	90	79	83		1581,1581,1581	0.7	0.6	17	dbSNP_86	83	2422,6178	400.5+/-346.8	334,1754,2212	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	347,2029,4127	AA,AG,GG		28.1628,6.8316,20.9365	,,	527/953,527/953,527/953	78084769	2723,10283	2203	4300	6503	SO:0001819	synonymous_variant	2548	exon12			CATCAGGGGCTCT		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1581G>A	17.37:g.78084769G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	131	62	0.473282	NM_001079803	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																			G|0.800;A|0.200	0.200	strong		0.597	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78084769	G	A	78084769	2	1	23	1	0	0	0	0	0	0	0	1	6147	1223	43	2		2	GAA	17	78084769	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13717	78084769	3110441	4027	20483										
CARD14	79092	hgsc.bcm.edu	37	chr17	78178916	78178916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccatcgacccgcccggccCcggcctgtgctcctcgtgcc	10	23	0	0	rs61757652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78178916C>T	ENST00000573882.1	+	20	3017	c.2481C>T	c.(2479-2481)ccC>ccT	p.P827P	RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Silent_p.P827P|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	827	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGCCCGGCCCCGGCCTGTGC	0.652													C|||	501	0.10004	0.0492	0.1369	5008	,	,		14544	0.1042		0.0746	False		,,,				2504	0.1646				p.P827P		Atlas-SNP	.											.	CARD14	98	.	0			c.C2481T						PASS	.	C		192,4214	114.2+/-152.2	7,178,2018	53	53	53		2481	-1.5	0.9	17	dbSNP_129	53	660,7940	165.8+/-217.9	26,608,3666	yes	coding-synonymous	CARD14	NM_024110.3		33,786,5684	TT,TC,CC		7.6744,4.3577,6.5508		827/1005	78178916	852,12154	2203	4300	6503	SO:0001819	synonymous_variant	79092	exon18			CCGGCCCCGGCCT	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2481C>T	17.37:g.78178916C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	121	63	0.520661	NM_024110	B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	CCDS11768.1																																																																																			C|0.928;T|0.072	0.072	strong		0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			T	78178916	C	T	78178916	2	4	23	1	0	0	0	0	0	0	0	1	2646	610	22	2		2	CARD14	17	78178916	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	94147	78178916	3016294	4028	20484										
RNF213	57674	hgsc.bcm.edu	37	chr17	78261730	78261730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgactttgctttcaaacccGtggcctcaggacacagccct	8	15	2	1	rs17853714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78261730G>A	ENST00000582970.1	+	4	521	c.378G>A	c.(376-378)ccG>ccA	p.P126P	RNF213_ENST00000319921.4_Silent_p.P126P|RNF213_ENST00000456466.1_Silent_p.P126P|RNF213_ENST00000508628.2_Silent_p.P175P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	126					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCAAACCCGTGGCCTCAGG	0.632													G|||	584	0.116613	0.0862	0.0893	5008	,	,		13894	0.0655		0.162	False		,,,				2504	0.183				p.P126P		Atlas-SNP	.											.	RNF213	766	.	0			c.G378A						PASS	.	G	,	451,3923		26,399,1762	30	28	28		525,378	-7.2	0	17	dbSNP_123	28	1547,7007		142,1263,2872	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	168,1662,4634	AA,AG,GG		18.0851,10.3109,15.4548	,	175/5257,126/1064	78261730	1998,10930	2187	4277	6464	SO:0001819	synonymous_variant	57674	exon4			AAACCCGTGGCCT	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.378G>A	17.37:g.78261730G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	130	62	0.476923	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			G|0.861;A|0.139	0.139	strong		0.632	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78261730	G	A	78261730	2	1	23	1	0	0	0	0	0	0	0	1	13477	1132	40	1		1	RNF213	17	78261730	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	82814	78261730	2933480	4029	20485										
RNF213	57674	hgsc.bcm.edu	37	chr17	78261805	78261805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccagccgagccagcccccAggcacagccaccacgccact	10	21	0	0	rs7215243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78261805A>G	ENST00000582970.1	+	4	596	c.453A>G	c.(451-453)ccA>ccG	p.P151P	RNF213_ENST00000319921.4_Silent_p.P151P|RNF213_ENST00000456466.1_Silent_p.P151P|RNF213_ENST00000508628.2_Silent_p.P200P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	151					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCAGCCCCCAGGCACAGCCA	0.692													G|||	1481	0.295727	0.5885	0.1873	5008	,	,		12591	0.131		0.1988	False		,,,				2504	0.2464				p.P151P		Atlas-SNP	.											RNF213_ENST00000456466,NS,carcinoma,0,3	RNF213	766	3	0			c.A453G						PASS	.	G	,	2141,2209		550,1041,584	11	13	12		600,453	-4.2	0	17	dbSNP_116	12	1773,6779		200,1373,2703	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	750,2414,3287	GG,GA,AA		20.732,49.2184,30.3364	,	200/5257,151/1064	78261805	3914,8988	2175	4276	6451	SO:0001819	synonymous_variant	57674	exon4			GCCCCCAGGCACA	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.453A>G	17.37:g.78261805A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	36	15	0.416667	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			A|0.731;G|0.269	0.269	strong		0.692	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78261805	A	G	78261805	2	3	23	1	0	0	0	0	0	0	0	1	13477	175	7	3		3	RNF213	17	78261805	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	75	78261805	2933405	4030	20486										
RNF213	57674	hgsc.bcm.edu	37	chr17	78263486	78263486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccaagaccaaggacgagaTggctgctgctgaagaaaaag	13	8	0	4	rs17853989	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78263486T>C	ENST00000582970.1	+	6	1105	c.962T>C	c.(961-963)aTg>aCg	p.M321T	RNF213_ENST00000319921.4_Missense_Mutation_p.M321T|RNF213_ENST00000456466.1_Missense_Mutation_p.M321T|RNF213_ENST00000508628.2_Missense_Mutation_p.M370T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	321				M -> T (in Ref. 4; AAH36891/AAH40341). {ECO:0000305}.	ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M321T(1)|p.M370T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGACGAGATGGCTGCTGCT	0.473													t|||	1101	0.219848	0.4531	0.1268	5008	,	,		16968	0.0665		0.165	False		,,,				2504	0.1851				p.M321T		Atlas-SNP	.											RNF213_ENST00000411702,NS,carcinoma,0,2	RNF213	766	2	2	Substitution - Missense(2)	stomach(2)	c.T962C						PASS	.	T	THR/MET,THR/MET	1746,2660	517.3+/-369.4	354,1038,811	60	66	64		1109,962	-8.7	0	17	dbSNP_123	64	1624,6976	299.3+/-304.4	153,1318,2829	yes	missense,missense	RNF213	NM_020914.4,NM_020954.2	81,81	507,2356,3640	CC,CT,TT		18.8837,39.6278,25.9111	benign,benign	370/5257,321/1064	78263486	3370,9636	2203	4300	6503	SO:0001583	missense	57674	exon6			ACGAGATGGCTGC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.962T>C	17.37:g.78263486T>C	ENSP00000464087:p.Met321Thr	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	433	0.19826007326007325	213	0.4329268292682927	45	0.12430939226519337	37	0.06468531468531469	138	0.1820580474934037	t	4.375	0.069242	0.08436	0.396278	0.188837	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.39229	1.09;1.09	4.4	-8.69	0.00855	.	615.921000	0.00166	N	0.000012	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14117	-1.0484	9	0.06891	T	0.86	-2.4186	4.0565	0.09819	0.3513:0.2506:0.0:0.3981	rs17853989;rs17857133	321;321	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	T	321;370;321;321	ENSP00000392123:M321T;ENSP00000324392:M321T	ENSP00000324392:M321T	M	+	2	0	RNF213	75878081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.421000	0.02455	-2.102000	0.00845	-2.512000	0.00187	ATG	T|0.759;C|0.241	0.241	strong		0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78263486	T	C	78263486	3	2	23	1	0	0	0	0	1	0	0	0	13477	1464	51	2	1131	2	RNF213	17	78263486	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1681	78263486	2931724	4031	20487										
RNF213	57674	hgsc.bcm.edu	37	chr17	78263514	78263514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgaagaaaaagtcggtaaGaatgaacaaggggagcctga	14	5	0	5	rs17853713	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78263514G>A	ENST00000582970.1	+	6	1133	c.990G>A	c.(988-990)aaG>aaA	p.K330K	RNF213_ENST00000319921.4_Silent_p.K330K|RNF213_ENST00000456466.1_Silent_p.K330K|RNF213_ENST00000508628.2_Silent_p.K379K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	330					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K379K(1)|p.K330K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGTCGGTAAGAATGAACAAG	0.517													A|||	1103	0.220248	0.4508	0.1254	5008	,	,		16476	0.0665		0.165	False		,,,				2504	0.1912				p.K330K		Atlas-SNP	.											RNF213_ENST00000411702,NS,carcinoma,0,2	RNF213	766	2	2	Substitution - coding silent(2)	stomach(2)	c.G990A						PASS	.	A	,	1740,2666	647.5+/-398.6	351,1038,814	67	71	70		1137,990	-1.2	0	17	dbSNP_123	70	1622,6978	742.2+/-407.2	152,1318,2830	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	503,2356,3644	AA,AG,GG		18.8605,39.4916,25.8496	,	379/5257,330/1064	78263514	3362,9644	2203	4300	6503	SO:0001819	synonymous_variant	57674	exon6			CGGTAAGAATGAA	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.990G>A	17.37:g.78263514G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	96	43	0.447917	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																			G|0.760;A|0.240	0.240	strong		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78263514	G	A	78263514	2	1	23	1	0	0	0	0	0	0	0	1	13477	933	33	2		2	RNF213	17	78263514	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28	78263514	2931696	4032	20488										
RPTOR	57521	hgsc.bcm.edu	37	chr17	78599562	78599562	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcccgatgtggtgaagacCacgccctgtgcacgcttgga	12	14	0	2	rs17848685	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78599562C>G	ENST00000306801.3	+	2	596	c.234C>G	c.(232-234)acC>acG	p.T78T	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Silent_p.T78T|RPTOR_ENST00000544334.2_Silent_p.T78T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	78					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGGTGAAGACCACGCCCTGTG	0.552													C|||	579	0.115615	0.0431	0.1239	5008	,	,		13519	0.0565		0.2137	False		,,,				2504	0.1677				p.T78T		Atlas-SNP	.											RPTOR,right_lower_lobe,carcinoma,+1,1	RPTOR	122	1	0			c.C234G						PASS	.	C	,	304,4102	165.1+/-196.6	10,284,1909	212	162	178		234,234	1.7	1	17	dbSNP_123	178	1895,6705	336.0+/-321.7	209,1477,2614	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	219,1761,4523	GG,GC,CC		22.0349,6.8997,16.9076	,	78/1178,78/1336	78599562	2199,10807	2203	4300	6503	SO:0001819	synonymous_variant	57521	exon2			GAAGACCACGCCC		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.234C>G	17.37:g.78599562C>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	167	81	0.48503	NM_001163034	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																			C|0.836;G|0.164	0.164	strong		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		G	78599562	C	G	78599562	2	3	23	1	0	0	0	0	0	0	0	1	13665	581	21	4		4	RPTOR	17	78599562	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	336048	78599562	2595648	4033	20489										
RPTOR	57521	hgsc.bcm.edu	37	chr17	78921117	78921117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgccatggagtatctgaaCggccaggactgctcgcttct	11	12	2	1	rs4969231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:78921117C>T	ENST00000306801.3	+	27	3593	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.N919N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1077					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGTATCTGAACGGCCAGGACT	0.582													C|||	990	0.197684	0.0219	0.2795	5008	,	,		17535	0.2044		0.3052	False		,,,				2504	0.2597				p.N1077N		Atlas-SNP	.											RPTOR,colon,carcinoma,0,1	RPTOR	122	1	0			c.C3231T						PASS	.	C	,	324,4082	173.0+/-202.9	5,314,1884	71	59	63		2757,3231	-10.5	0.3	17	dbSNP_111	63	2755,5845	438.5+/-358.9	426,1903,1971	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	431,2217,3855	TT,TC,CC		32.0349,7.3536,23.6737	,	919/1178,1077/1336	78921117	3079,9927	2203	4300	6503	SO:0001819	synonymous_variant	57521	exon27			TCTGAACGGCCAG		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3231C>T	17.37:g.78921117C>T		Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	129	126	0.976744	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																			C|0.763;T|0.237	0.237	strong		0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		T	78921117	C	T	78921117	2	4	23	1	0	0	0	0	0	0	0	1	13665	535	19	1		1	RPTOR	17	78921117	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	321555	78921117	2274093	4034	20490										
BAIAP2	10458	hgsc.bcm.edu	37	chr17	79089590	79089590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatccctttgcccacgtccAgctgaagccgacagtgacca	9	15	0	2	rs4969391	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:79089590A>G	ENST00000321300.6	+	14	1649	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	BAIAP2_ENST00000392411.3_Missense_Mutation_p.Q441R|BAIAP2_ENST00000435091.3_3'UTR|BAIAP2_ENST00000428708.2_Missense_Mutation_p.Q519R|BAIAP2_ENST00000575245.1_3'UTR	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	519			Q -> R (in dbSNP:rs4969391).		actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCCACGTCCAGCTGAAGCCG	0.582													A|||	863	0.172324	0.1059	0.3631	5008	,	,		17328	0.1478		0.1561	False		,,,				2504	0.1687				p.Q519R		Atlas-SNP	.											BAIAP2_ENST00000321300,colon,carcinoma,0,1	BAIAP2	74	1	0			c.A1556G						PASS	.	A	ARG/GLN,,ARG/GLN	516,3890	234.6+/-247.4	35,446,1722	90	91	91		1556,,1556	5	1	17	dbSNP_111	91	1330,7270	259.8+/-282.9	98,1134,3068	yes	missense,utr-3,missense	BAIAP2	NM_001144888.1,NM_006340.2,NM_017451.2	43,,43	133,1580,4790	GG,GA,AA		15.4651,11.7113,14.1934	benign,,benign	519/535,,519/553	79089590	1846,11160	2203	4300	6503	SO:0001583	missense	10458	exon14			ACGTCCAGCTGAA	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1556A>G	17.37:g.79089590A>G	ENSP00000316338:p.Gln519Arg	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	99	49	0.494949	NM_001144888	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	410	0.18772893772893773	84	0.17073170731707318	112	0.30939226519337015	92	0.16083916083916083	122	0.16094986807387862	A	13.79	2.343165	0.41498	0.117113	0.154651	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000392411	T;T;T	0.38560	1.13;1.13;1.13	4.96	4.96	0.65561	.	1.320840	0.04637	N	0.404645	T	0.00012	0.0000	N	0.04508	-0.205	0.43761	P	0.0037289999999999823	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18935	-1.0321	9	0.30854	T	0.27	-1.4439	8.529	0.33321	0.9135:0.0:0.0865:0.0	rs4969391;rs52805958;rs56955834;rs4969391	441;519;519	F8W878;Q9UQB8;Q9UQB8-2	.;BAIP2_HUMAN;.	R	519;519;441	ENSP00000316338:Q519R;ENSP00000401022:Q519R;ENSP00000376211:Q441R	ENSP00000316338:Q519R	Q	+	2	0	BAIAP2	76704185	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.516000	0.60496	1.862000	0.54008	0.379000	0.24179	CAG	A|0.843;G|0.157	0.157	strong		0.582	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79089590	A	G	79089590	3	3	23	1	0	0	0	0	1	0	0	0	1301	188	7	3	1677	3	BAIAP2	17	79089590	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	168473	79089590	2105620	4035	20491										
HGS	9146	hgsc.bcm.edu	37	chr17	79660570	79660570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacttccaccactgagctgCcccccgagtacctgaccagc	7	20	0	2	rs150616739		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:79660570C>T	ENST00000329138.4	+	9	835	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	234	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACTGAGCTGCCCCCCGAGTA	0.682																																					p.P234S		Atlas-SNP	.											.	HGS	54	.	0			c.C700T						PASS	.	C	SER/PRO	0,4406		0,0,2203	84	67	72		700	4.4	1	17	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HGS	NM_004712.4	74	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	234/778	79660570	2,13004	2203	4300	6503	SO:0001583	missense	9146	exon9			GAGCTGCCCCCCG	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.700C>T	17.37:g.79660570C>T	ENSP00000331201:p.Pro234Ser	Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	223	117	0.524664	NM_004712	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166816	0.94768	0.0	2.33E-4	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.42900	0.96	4.39	4.39	0.52855	.	0.184051	0.48767	D	0.000171	T	0.61223	0.2330	M	0.82323	2.585	0.80722	D	1	P	0.47545	0.897	P	0.54924	0.764	T	0.65557	-0.6139	10	0.40728	T	0.16	-24.3068	16.3019	0.82825	0.0:1.0:0.0:0.0	.	234	O14964	HGS_HUMAN	S	234	ENSP00000331201:P234S	ENSP00000331201:P234S	P	+	1	0	HGS	77270975	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.258000	0.78371	2.138000	0.66242	0.655000	0.94253	CCC	C|1.000;T|0.000	0.000	weak		0.682	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		T	79660570	C	T	79660570	3	4	23	1	0	0	0	0	1	0	0	0	7087	739	26	2	734	2	HGS	17	79660570	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	570980	79660570	1534640	4036	20492										
FASN	2194	hgsc.bcm.edu	37	chr17	80045086	80045086	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggagatgtggacgcctccGgccactgtgaccctcagcca	12	16	1	2	rs4485435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80045086G>C	ENST00000306749.2	-	21	3485	c.3267C>G	c.(3265-3267)gcC>gcG	p.A1089A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1089					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGACGCCTCCGGCCACTGTGA	0.672													.|||	1117	0.223043	0.3222	0.4092	5008	,	,		11177	0.1121		0.2217	False		,,,				2504	0.0726				p.A1089A	Colon(59;314 1043 11189 28578 32273)	Atlas-SNP	.											.	FASN	154	.	0			c.C3267G						PASS	.						18	19	19					17																	80045086		2185	4286	6471	SO:0001819	synonymous_variant	2194	exon21			GCCTCCGGCCACT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3267C>G	17.37:g.80045086G>C		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	104	44	0.423077	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			G|0.762;C|0.238	0.238	strong		0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		C	80045086	G	C	80045086	2	2	23	1	0	0	0	0	0	0	0	1	5683	1103	39	4		4	FASN	17	80045086	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	384516	80045086	1150124	4037	20493										
CCDC57	284001	hgsc.bcm.edu	37	chr17	80059690	80059690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatccctggggtggcaatGcctgcctgcatcttgacggg	13	12	2	1	rs61735692	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80059690G>A	ENST00000389641.4	-	18	2655	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	CCDC57_ENST00000392347.1_Silent_p.G873G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	873										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGGTGGCAATGCCTGCCTGCA	0.602													G|||	69	0.013778	0.0038	0.0288	5008	,	,		17944	0.0		0.0398	False		,,,				2504	0.0041				p.G872G		Atlas-SNP	.											.	CCDC57	102	.	0			c.C2616T						PASS	.	G		46,4056		0,46,2005	64	71	69		2616	0.4	0	17	dbSNP_129	69	420,7976		15,390,3793	no	coding-synonymous	CCDC57	NM_198082.2		15,436,5798	AA,AG,GG		5.0024,1.1214,3.7286		872/916	80059690	466,12032	2051	4198	6249	SO:0001819	synonymous_variant	284001	exon17			GGCAATGCCTGCC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2619C>T	17.37:g.80059690G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	101	49	0.485149	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37		46	0.021062271062271064	5	0.01016260162601626	7	0.019337016574585635	0	0.0	34	0.044854881266490766	G	3.247	-0.154002	0.06585	0.011214	0.050024	ENSG00000176155	ENST00000392345	.	.	.	2.53	0.444	0.16592	.	.	.	.	.	T	0.03871	0.0109	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.15896	-1.0421	4	.	.	.	.	4.2507	0.10693	0.4561:0.0:0.5439:0.0	.	.	.	.	V	185	.	.	A	-	2	0	CCDC57	77652979	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.849000	0.27723	0.392000	0.25172	-0.224000	0.12420	GCA	G|0.975;A|0.025	0.025	strong		0.602	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		A	80059690	G	A	80059690	2	1	23	1	0	0	0	0	0	0	0	1	2827	1306	46	2		2	CCDC57	17	80059690	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	14604	80059690	1135520	4038	20494										
CCDC57	284001	hgsc.bcm.edu	37	chr17	80159665	80159665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagacaaagtcctcctgcagGcaccgcagtttcccctgcgc	9	16	0	1	rs11653797	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80159665G>A	ENST00000389641.4	-	2	192	c.156C>T	c.(154-156)tgC>tgT	p.C52C	CCDC57_ENST00000392347.1_Silent_p.C52C|CCDC57_ENST00000392343.3_Silent_p.C52C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	52										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTCCTGCAGGCACCGCAGTT	0.672													G|||	556	0.111022	0.0552	0.1268	5008	,	,		17085	0.0565		0.1998	False		,,,				2504	0.1401				p.C52C		Atlas-SNP	.											.	CCDC57	102	.	0			c.C156T						PASS	.	G		406,3868		19,368,1750	50	57	55		156	-0.8	0.5	17	dbSNP_120	55	1893,6617		204,1485,2566	no	coding-synonymous	CCDC57	NM_198082.2		223,1853,4316	AA,AG,GG		22.2444,9.4993,17.9834		52/916	80159665	2299,10485	2137	4255	6392	SO:0001819	synonymous_variant	284001	exon2			CTGCAGGCACCGC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.156C>T	17.37:g.80159665G>A		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	226	117	0.517699	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37																																																																																				G|0.859;A|0.141	0.141	strong		0.672	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		A	80159665	G	A	80159665	2	1	23	1	0	0	0	0	0	0	0	1	2827	1195	42	2		2	CCDC57	17	80159665	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	99975	80159665	1035545	4039	20495										
C17orf101	79701	hgsc.bcm.edu	37	chr17	80373377	80373377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacctctgcgaccccgtcGtcggcccccaagctgctcca	10	19	1	0	rs8072110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80373377G>T	ENST00000313056.5	-	2	352	c.201C>A	c.(199-201)gaC>gaA	p.D67E	Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.D67E|HEXDC_ENST00000337014.6_5'Flank	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	67			D -> E (in dbSNP:rs8072110).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)										CGACCCCGTCGTCGGCCCCCA	0.682													G|||	272	0.0543131	0.0325	0.062	5008	,	,		14915	0.0268		0.0795	False		,,,				2504	0.0808				p.D67E		Atlas-SNP	.											C17orf101_ENST00000313056,NS,carcinoma,-2,2	.	.	2	0			c.C201A						PASS	.	G	GLU/ASP,GLU/ASP	185,4221	116.7+/-154.6	0,185,2018	60	63	62		201,201	-10	0	17	dbSNP_116	62	613,7985	160.0+/-213.2	19,575,3705	yes	missense,missense	C17orf101	NM_024648.2,NM_175902.4	45,45	19,760,5723	TT,TG,GG		7.1296,4.1988,6.1366	benign,benign	67/320,67/332	80373377	798,12206	2203	4299	6502	SO:0001583	missense	79701	exon2			CCCGTCGTCGGCC	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.201C>A	17.37:g.80373377G>T	ENSP00000320116:p.Asp67Glu	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	63	32	0.507937	NM_175902	C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	CCDS11811.1	112	0.05128205128205128	20	0.04065040650406504	24	0.06629834254143646	10	0.017482517482517484	58	0.07651715039577836	G	6.803	0.517190	0.13005	0.041988	0.071296	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.31247	1.96;1.5	5.0	-10.0	0.00425	.	0.192020	0.42172	N	0.000760	T	0.00608	0.0020	L	0.42245	1.32	0.09310	N	1	B;P	0.46784	0.015;0.884	B;B	0.38428	0.005;0.273	T	0.18366	-1.0339	10	0.12103	T	0.63	-15.7127	4.5638	0.12173	0.1501:0.2714:0.4884:0.0901	rs8072110;rs52808192;rs59805729;rs8072110	67;67	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	E	67	ENSP00000320116:D67E;ENSP00000330075:D67E	ENSP00000320116:D67E	D	-	3	2	C17orf101	77966666	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-3.001000	0.00652	-2.999000	0.00276	-2.569000	0.00171	GAC	G|0.944;T|0.056	0.056	strong		0.682	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		T	80373377	G	T	80373377	3	4	23	1	0	0	0	0	1	0	0	0	1848	1136	40	4	967	4	C17orf101	17	80373377	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	213712	80373377	821833	4040	20496										
C17orf62	79415	hgsc.bcm.edu	37	chr17	80404555	80404555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcagcctgtgacgtagaagaGcttccagcccaggctatctg	12	12	1	3	rs72857481	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80404555G>A	ENST00000437807.2	-	5	462	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	C17orf62_ENST00000583617.1_Missense_Mutation_p.L49F|C17orf62_ENST00000306645.5_Missense_Mutation_p.L49F|C17orf62_ENST00000577436.1_Missense_Mutation_p.L35F|C17orf62_ENST00000578913.1_Missense_Mutation_p.L49F|C17orf62_ENST00000585080.1_Missense_Mutation_p.L49F|C17orf62_ENST00000578919.1_Missense_Mutation_p.L49F|C17orf62_ENST00000336995.7_Intron|C17orf62_ENST00000577732.1_Missense_Mutation_p.L49F|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.L49F|C17orf62_ENST00000434650.2_Missense_Mutation_p.L35F|C17orf62_ENST00000342572.8_Intron	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	49						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGTAGAAGAGCTTCCAGCCC	0.647													G|||	34	0.00678914	0.0	0.0072	5008	,	,		17150	0.0		0.0229	False		,,,				2504	0.0061				p.L49F		Atlas-SNP	.											.	C17orf62	23	.	0			c.C145T						PASS	.	G	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	15,4391	22.3+/-47.3	0,15,2188	96	93	94		145,145,103,145,145,145,145	2.6	1	17	dbSNP_130	94	165,8435	77.5+/-140.1	1,163,4136	yes	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	22,22,22,22,22,22,22	1,178,6324	AA,AG,GG		1.9186,0.3404,1.384	benign,benign,benign,benign,benign,benign,benign	49/188,49/188,35/174,49/188,49/188,49/188,49/188	80404555	180,12826	2203	4300	6503	SO:0001583	missense	79415	exon5			AGAAGAGCTTCCA	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.145C>T	17.37:g.80404555G>A	ENSP00000388909:p.Leu49Phe	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	73	31	0.424658	NM_001193657	E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	CCDS32776.1	20	0.009157509157509158	0	0.0	2	0.0055248618784530384	0	0.0	18	0.023746701846965697	G	11.50	1.658734	0.29515	0.003404	0.019186	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.96	2.58	0.30949	.	.	.	.	.	T	0.35098	0.0920	L	0.41824	1.3	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.14023	0.006;0.01	T	0.46679	-0.9174	8	0.52906	T	0.07	.	11.0231	0.47730	0.1877:0.0:0.8123:0.0	.	35;49	E1B6X3;Q9BQA9	.;CQ062_HUMAN	F	49;49;35	.	ENSP00000307765:L49F	L	-	1	0	C17orf62	77997844	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	3.151000	0.50670	1.086000	0.41228	0.561000	0.74099	CTC	G|0.989;A|0.011	0.011	strong		0.647	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		A	80404555	G	A	80404555	3	1	23	1	0	0	0	0	1	0	0	0	1870	971	34	2	434	2	C17orf62	17	80404555	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	31178	80404555	790655	4041	20497										
ZNF750	79755	hgsc.bcm.edu	37	chr17	80789628	80789628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctgggattgtggggtgcaTgtaaggggaaatggccccaa	16	7	1	0	rs8074277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80789628T>C	ENST00000269394.3	-	2	1536	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	235			M -> V (in dbSNP:rs8074277).		cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGGGTGCATGTAAGGGGAA	0.567													T|||	624	0.124601	0.1263	0.3026	5008	,	,		16012	0.0833		0.1362	False		,,,				2504	0.0266				p.M235V		Atlas-SNP	.											ZNF750,NS,adenoma,0,1	ZNF750	60	1	0			c.A703G						PASS	.	T	,VAL/MET	577,3829	254.9+/-260.3	45,487,1671	53	56	55		,703	-11.4	0	17	dbSNP_116	55	1534,7066	288.1+/-298.6	135,1264,2901	yes	intron,missense	TBCD,ZNF750	NM_005993.4,NM_024702.2	,21	180,1751,4572	CC,CT,TT		17.8372,13.0958,16.231	,benign	,235/724	80789628	2111,10895	2203	4300	6503	SO:0001583	missense	79755	exon2			GGTGCATGTAAGG	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.703A>G	17.37:g.80789628T>C	ENSP00000269394:p.Met235Val	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	197	97	0.492386	NM_024702	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	289	0.13232600732600733	52	0.10569105691056911	78	0.2154696132596685	44	0.07692307692307693	115	0.1517150395778364	T	8.536	0.872179	0.17322	0.130958	0.178372	ENSG00000141579	ENST00000269394	T	0.13778	2.56	5.77	-11.4	0.00090	.	0.915550	0.09345	N	0.814918	T	0.00012	0.0000	N	0.16307	0.4	0.40232	P	0.022136999999999962	B	0.06786	0.001	B	0.08055	0.003	T	0.41893	-0.9483	8	.	.	.	-2.4325	13.1455	0.59459	0.0:0.1284:0.0968:0.7748	rs8074277;rs52814169;rs59556240;rs8074277	235	Q32MQ0	ZN750_HUMAN	V	235	ENSP00000269394:M235V	.	M	-	1	0	ZNF750	78382917	0.000000	0.05858	0.001000	0.08648	0.765000	0.43378	-1.308000	0.02730	-2.288000	0.00668	-0.256000	0.11100	ATG	T|0.855;C|0.145	0.145	strong		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		C	80789628	T	C	80789628	3	2	23	1	0	0	0	0	1	0	0	0	18129	1464	51	2	1476	2	ZNF750	17	80789628	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	385073	80789628	405582	4042	20498										
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	80923536	80923536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggcccttacctgacctccCtcgttaaaggggcccacgtg	10	16	0	1	rs4986144	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80923536C>T	ENST00000320865.3	-	7	604	c.591G>A	c.(589-591)gaG>gaA	p.E197E	B3GNTL1_ENST00000576599.1_Silent_p.E86E|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	197							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCTGACCTCCCTCGTTAAAGG	0.612													C|||	1117	0.223043	0.233	0.1974	5008	,	,		16277	0.3214		0.2336	False		,,,				2504	0.1155				p.E197E		Atlas-SNP	.											B3GNTL1,NS,malignant_melanoma,0,2	B3GNTL1	40	2	0			c.G591A						PASS	.	C		1013,3393	349.0+/-310.2	129,755,1319	37	34	35		591	2.8	1	17	dbSNP_111	35	2503,6095	374.9+/-337.6	338,1827,2134	no	coding-synonymous	B3GNTL1	NM_001009905.1		467,2582,3453	TT,TC,CC		29.1114,22.9914,27.0378		197/362	80923536	3516,9488	2203	4299	6502	SO:0001819	synonymous_variant	146712	exon7			ACCTCCCTCGTTA	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.591G>A	17.37:g.80923536C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	58	28	0.482759	NM_001009905	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																			C|0.739;T|0.261	0.261	strong		0.612	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		T	80923536	C	T	80923536	2	4	23	1	0	0	0	0	0	0	0	1	1265	680	24	2		2	B3GNTL1	17	80923536	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133908	80923536	271674	4043	20499										
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	80992932	80992932	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaatccaaaaagcaaaggtaAgaccctgagctctgggcaac	10	10	1	2	rs16940609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:80992932A>C	ENST00000320865.3	-	4	334	c.321T>G	c.(319-321)tcT>tcG	p.S107S	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	107							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCAAAGGTAAGACCCTGAGC	0.343													A|||	874	0.174521	0.1301	0.17	5008	,	,		16864	0.2093		0.2286	False		,,,				2504	0.1462				p.S107S		Atlas-SNP	.											.	B3GNTL1	40	.	0			c.T321G						PASS	.	A		609,3797	267.1+/-267.6	45,519,1639	102	103	103		321	4.2	1	17	dbSNP_123	103	2164,6436	370.3+/-335.8	277,1610,2413	no	coding-synonymous	B3GNTL1	NM_001009905.1		322,2129,4052	CC,CA,AA		25.1628,13.8221,21.3209		107/362	80992932	2773,10233	2203	4300	6503	SO:0001819	synonymous_variant	146712	exon4			AAGGTAAGACCCT	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.321T>G	17.37:g.80992932A>C		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	162	78	0.481481	NM_001009905	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																			A|0.794;C|0.206	0.206	strong		0.343	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		C	80992932	A	C	80992932	2	2	23	1	0	0	0	0	0	0	0	1	1265	59	3	5		5	B3GNTL1	17	80992932	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	69396	80992932	202278	4044	20500										
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	81006629	81006629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaaacattcgtccagccaCggttcagcgttgtggactgg	11	12	2	0	rs7406119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr17:81006629C>T	ENST00000320865.3	-	2	106	c.93G>A	c.(91-93)ccG>ccA	p.P31P	B3GNTL1_ENST00000576599.1_De_novo_Start_OutOfFrame|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	31							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CGTCCAGCCACGGTTCAGCGT	0.423													C|||	968	0.193291	0.2194	0.1628	5008	,	,		21632	0.2073		0.2177	False		,,,				2504	0.1401				p.P31P		Atlas-SNP	.											.	B3GNTL1	40	.	0			c.G93A						PASS	.	C		881,3525	343.8+/-307.8	90,701,1412	91	91	91		93	-8.3	0	17	dbSNP_116	91	2081,6519	359.5+/-331.6	256,1569,2475	no	coding-synonymous	B3GNTL1	NM_001009905.1		346,2270,3887	TT,TC,CC		24.1977,19.9955,22.7741		31/362	81006629	2962,10044	2203	4300	6503	SO:0001819	synonymous_variant	146712	exon2			CAGCCACGGTTCA	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.93G>A	17.37:g.81006629C>T		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	161	88	0.546584	NM_001009905	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																			C|0.782;T|0.218	0.218	strong		0.423	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		T	81006629	C	T	81006629	2	4	23	1	0	0	0	0	0	0	0	1	1265	523	19	1		1	B3GNTL1	17	81006629	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13697	81006629	188581	4045	20501										
NDC80	10403	hgsc.bcm.edu	37	chr18	2595443	2595443	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgaaacaataaaacaggaGaacactcgactacagaatat	7	7	0	3	rs12456560	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:2595443G>T	ENST00000261597.4	+	11	1226	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	348	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.		E -> D (in dbSNP:rs12456560).		attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TAAAACAGGAGAACACTCGAC	0.323													G|||	464	0.0926518	0.0242	0.1758	5008	,	,		14466	0.0923		0.1491	False		,,,				2504	0.0685				p.E348D		Atlas-SNP	.											.	NDC80	62	.	0			c.G1044T						PASS	.	G	ASP/GLU	189,4217	120.8+/-158.4	4,181,2018	57	57	57		1044	2.8	1	18	dbSNP_120	57	1113,7487	228.6+/-263.6	76,961,3263	yes	missense	NDC80	NM_006101.2	45	80,1142,5281	TT,TG,GG		12.9419,4.2896,10.0108	possibly-damaging	348/643	2595443	1302,11704	2203	4300	6503	SO:0001583	missense	10403	exon11			ACAGGAGAACACT	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1044G>T	18.37:g.2595443G>T	ENSP00000261597:p.Glu348Asp	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	185	75	0.405405	NM_006101	Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	254	0.1163003663003663	13	0.026422764227642278	56	0.15469613259668508	70	0.12237762237762238	115	0.1517150395778364	G	16.76	3.212324	0.58452	0.042896	0.129419	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.64260	-0.09	5.6	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.00967	0.0032	M	0.66939	2.045	0.21105	P	0.999781786	D	0.76494	0.999	D	0.70016	0.967	T	0.38286	-0.9668	9	0.48119	T	0.1	-14.4068	10.391	0.44168	0.2169:0.0:0.7831:0.0	rs12456560;rs17536325;rs52834012;rs60715245;rs12456560	348	O14777	NDC80_HUMAN	D	348	ENSP00000261597:E348D	ENSP00000261597:E348D	E	+	3	2	NDC80	2585443	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.342000	0.59341	0.704000	0.31869	0.650000	0.86243	GAG	G|0.900;N|0.000	.	strong		0.323	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		T	2595443	G	T	2595443	3	4	23	1	0	0	0	0	1	0	0	0	10242	933	33	4	1082	4	NDC80	18	2595443	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10		2595443	75481805	4046	20502										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2707619	2707619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaattattgcctaatgagGttaggcctgctggaacccct	10	9	0	2	rs2276092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:2707619G>A	ENST00000320876.6	+	16	2460	c.2122G>A	c.(2122-2124)Gtt>Att	p.V708I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V708I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	708			V -> I (in dbSNP:rs2276092).		chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCCTAATGAGGTTAGGCCTGC	0.363													A|||	3457	0.690296	0.7141	0.7839	5008	,	,		14767	0.6528		0.6909	False		,,,				2504	0.6299				p.V708I		Atlas-SNP	.											.	SMCHD1	88	.	0			c.G2122A						PASS	.	A	ILE/VAL	2659,981		969,721,130	179	168	171		2122	0.4	0.4	18	dbSNP_100	171	5737,2423		2009,1719,352	yes	missense	SMCHD1	NM_015295.2	29	2978,2440,482	AA,AG,GG		29.6936,26.9505,28.8475	benign	708/2006	2707619	8396,3404	1820	4080	5900	SO:0001583	missense	23347	exon16			AATGAGGTTAGGC	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2122G>A	18.37:g.2707619G>A	ENSP00000326603:p.Val708Ile	Somatic	329	0	0		WXS	Illumina HiSeq	Phase_I	300	141	0.47	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	1490	0.6822344322344323	354	0.7195121951219512	279	0.7707182320441989	348	0.6083916083916084	509	0.6715039577836411	A	11.19	1.566563	0.28003	0.730495	0.703064	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22539	1.95;1.95	5.46	0.384	0.16244	.	0.723872	0.12914	N	0.428667	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	9	0.18710	T	0.47	-1.9438	11.4814	0.50328	0.4902:0.0:0.5098:0.0	rs2276092;rs61228446;rs2276092	708	A6NHR9	SMHD1_HUMAN	I	708	ENSP00000326603:V708I;ENSP00000261598:V708I	ENSP00000261598:V708I	V	+	1	0	SMCHD1	2697619	0.000000	0.05858	0.397000	0.26308	0.982000	0.71751	0.281000	0.18810	-0.155000	0.11098	-0.360000	0.07572	GTT	G|0.319;A|0.681	0.681	strong		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2707619	G	A	2707619	3	1	23	1	0	0	0	0	1	0	0	0	14788	1261	44	2	2184	2	SMCHD1	18	2707619	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	112176	2707619	75369629	4047	20503										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2740714	2740714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttagttataataattacAgatcagtacggaaatcagat	6	4	2	2	rs12327477	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:2740714A>G	ENST00000320876.6	+	28	3866	c.3528A>G	c.(3526-3528)acA>acG	p.T1176T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.T1176T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1176					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TAATAATTACAGATCAGTACG	0.284													G|||	1934	0.386182	0.2685	0.4467	5008	,	,		13651	0.5228		0.2634	False		,,,				2504	0.4877				p.T1176T		Atlas-SNP	.											.	SMCHD1	88	.	0			c.A3528G						PASS	.	G		945,2639		127,691,974	86	84	85		3528	-2	1	18	dbSNP_120	85	2294,5814		315,1664,2075	no	coding-synonymous	SMCHD1	NM_015295.2		442,2355,3049	GG,GA,AA		28.293,26.3672,27.7027		1176/2006	2740714	3239,8453	1792	4054	5846	SO:0001819	synonymous_variant	23347	exon28			AATTACAGATCAG	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3528A>G	18.37:g.2740714A>G		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	95	40	0.421053	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			A|0.701;G|0.299	0.299	strong		0.284	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			G	2740714	A	G	2740714	2	3	23	1	0	0	0	0	0	0	0	1	14788	175	7	3		3	SMCHD1	18	2740714	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	33095	2740714	75336534	4048	20504										
SMCHD1	23347	hgsc.bcm.edu	37	chr18	2750477	2750477	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttaaatatgacaaagatgcAtccttcttagcagggggtct	10	7	2	2	rs2304859	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:2750477A>G	ENST00000320876.6	+	32	4475	c.4137A>G	c.(4135-4137)gcA>gcG	p.A1379A	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.A1379A	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1379					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACAAAGATGCATCCTTCTTAG	0.313													G|||	1933	0.385982	0.2685	0.4467	5008	,	,		17899	0.5218		0.2634	False		,,,				2504	0.4877				p.A1379A		Atlas-SNP	.											SMCHD1,colon,carcinoma,+1,3	SMCHD1	88	3	0			c.A4137G						PASS	.	G		955,2687		126,703,992	45	42	43		4137	0.8	1	18	dbSNP_100	43	2297,5879		311,1675,2102	no	coding-synonymous	SMCHD1	NM_015295.2		437,2378,3094	GG,GA,AA		28.0944,26.2219,27.5173		1379/2006	2750477	3252,8566	1821	4088	5909	SO:0001819	synonymous_variant	23347	exon32			AGATGCATCCTTC	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4137A>G	18.37:g.2750477A>G		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	116	73	0.62931	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			G|0.336;N|0.000	0.336	strong		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			G	2750477	A	G	2750477	2	3	23	1	0	0	0	0	0	0	0	1	14788	204	8	2		2	SMCHD1	18	2750477	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9763	2750477	75326771	4049	20505										
TGIF1	7050	hgsc.bcm.edu	37	chr18	3457641	3457641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcgtccatcagtgatctgCcataccactgtgactgcatt	8	13	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:3457641C>T	ENST00000330513.5	+	3	1212	c.909C>T	c.(907-909)tgC>tgT	p.C303C	TGIF1_ENST00000548489.2_Silent_p.C188C|TGIF1_ENST00000343820.5_Silent_p.C174C|TGIF1_ENST00000400167.2_Silent_p.C154C|TGIF1_ENST00000405385.3_Silent_p.C154C|TGIF1_ENST00000407501.2_Silent_p.C174C|TGIF1_ENST00000472042.1_Silent_p.C154C|TGIF1_ENST00000345133.5_Silent_p.C154C|TGIF1_ENST00000551541.1_Silent_p.C154C|TGIF1_ENST00000401449.1_Silent_p.C154C	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	303					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAGTGATCTGCCATACCACTG	0.522																																					p.C303C		Atlas-SNP	.											TGIF1,colon,carcinoma,0,1	TGIF1	41	1	0			c.C909T						scavenged	.						76	66	69					18																	3457641		2203	4300	6503	SO:0001819	synonymous_variant	7050	exon3			GATCTGCCATACC	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.909C>T	18.37:g.3457641C>T		Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	176	3	0.0170455	NM_170695	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	37	CCDS11834.1																																																																																			.	.	none		0.522	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		T	3457641	C	T	3457641	2	4	23	1	0	0	0	0	0	0	0	1	15822	747	26	2		2	TGIF1	18	3457641	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	707164	3457641	74619607	4050	20506										
EPB41L3	23136	hgsc.bcm.edu	37	chr18	5416221	5416221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggccatcagagtccaaggCgggctctccaggcaggtgct	15	12	2	1	rs9966357	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:5416221C>T	ENST00000341928.2	-	13	2003	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A555T|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	555	Spectrin--actin-binding. {ECO:0000255}.		A -> T (in dbSNP:rs9966357).		apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAGTCCAAGGCGGGCTCTCCA	0.572													c|||	252	0.0503195	0.121	0.0187	5008	,	,		17646	0.0		0.0268	False		,,,				2504	0.0532				p.A555T		Atlas-SNP	.											.	EPB41L3	222	.	0			c.G1663A						PASS	.	T	THR/ALA	470,3936	220.7+/-238.1	25,420,1758	82	84	84		1663	-11.1	0	18	dbSNP_119	84	269,8331	103.3+/-164.5	7,255,4038	yes	missense	EPB41L3	NM_012307.2	58	32,675,5796	TT,TC,CC		3.1279,10.6673,5.682	benign	555/1088	5416221	739,12267	2203	4300	6503	SO:0001583	missense	23136	exon13			CCAAGGCGGGCTC	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1663G>A	18.37:g.5416221C>T	ENSP00000343158:p.Ala555Thr	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	143	68	0.475524	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	101	0.04624542124542125	72	0.14634146341463414	7	0.019337016574585635	0	0.0	22	0.029023746701846966	c	0.008	-1.930120	0.00488	0.106673	0.031279	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80393	-1.37;-1.37	5.55	-11.1	0.00147	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.04268	-1.0964	8	0.13470	T	0.59	.	6.6903	0.23167	0.3941:0.1901:0.0:0.4158	rs9966357;rs52812768;rs9966357	555	Q9Y2J2	E41L3_HUMAN	T	555	ENSP00000343158:A555T;ENSP00000341138:A555T	ENSP00000343158:A555T	A	-	1	0	EPB41L3	5406221	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.647000	0.00860	-4.798000	0.00031	-3.942000	0.00015	GCC	C|0.945;T|0.055	0.055	strong		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5416221	C	T	5416221	3	4	23	1	0	0	0	0	1	0	0	0	5154	768	27	1	1640	1	EPB41L3	18	5416221	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1958580	5416221	72661027	4051	20507										
EPB41L3	23136	hgsc.bcm.edu	37	chr18	5478334	5478334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttaatggagaccgagagAgtttactgctagatgatttc	10	6	1	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:5478334A>G	ENST00000341928.2	-	3	627	c.287T>C	c.(286-288)cTc>cCc	p.L96P	RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L96P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L96P|EPB41L3_ENST00000400111.3_Missense_Mutation_p.L96P|EPB41L3_ENST00000540638.2_Missense_Mutation_p.L96P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	96					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGACCGAGAGAGTTTACTGCT	0.408																																					p.L96P		Atlas-SNP	.											EPB41L3,rectum,carcinoma,+1,1	EPB41L3	222	1	0			c.T287C						scavenged	.						183	166	172					18																	5478334		2203	4300	6503	SO:0001583	missense	23136	exon3			CGAGAGAGTTTAC	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.287T>C	18.37:g.5478334A>G	ENSP00000343158:p.Leu96Pro	Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	301	5	0.0166113	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842686	0.71488	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.83755	-1.7;-1.71;-1.7;-1.76	5.17	5.17	0.71159	.	0.178441	0.34268	N	0.004116	D	0.90113	0.6911	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.999;1.0	D;P;D;D	0.87578	0.998;0.744;0.996;0.982	D	0.89439	0.3722	10	0.35671	T	0.21	.	15.0254	0.71667	1.0:0.0:0.0:0.0	.	96;96;96;96	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	P	96;96;96;96;177	ENSP00000343158:L96P;ENSP00000441174:L96P;ENSP00000341138:L96P;ENSP00000382981:L96P	ENSP00000343158:L96P	L	-	2	0	EPB41L3	5468334	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	7.474000	0.81024	1.934000	0.56057	0.482000	0.46254	CTC	.	.	none		0.408	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5478334	A	G	5478334	3	3	23	1	0	0	0	0	1	0	0	0	5154	304	11	3	3056	3	EPB41L3	18	5478334	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	62113	5478334	72598914	4052	20508										
L3MBTL4	91133	hgsc.bcm.edu	37	chr18	5956238	5956238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatcccctgacttcttggCctgaggcaatatcttcttca	6	13	5	2	rs3737353	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:5956238C>T	ENST00000284898.6	-	20	2053	c.1853G>A	c.(1852-1854)gGc>gAc	p.G618D	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G422D|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G618D|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G609D|RP11-793A3.1_ENST00000577704.1_RNA	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	618			G -> D (in dbSNP:rs3737353). {ECO:0000269|PubMed:14702039}.		chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GACTTCTTGGCCTGAGGCAAT	0.463													C|||	1927	0.384784	0.2927	0.2723	5008	,	,		20537	0.4742		0.3976	False		,,,				2504	0.4836				p.G618D	Esophageal Squamous(41;748 902 17366 28959 43175)	Atlas-SNP	.											L3MBTL4,colon,carcinoma,0,1	L3MBTL4	87	1	0			c.G1853A						scavenged	.	C	ASP/GLY	1114,2710		168,778,966	154	150	151		1853	2.8	0	18	dbSNP_107	151	3192,5078		658,1876,1601	yes	missense	L3MBTL4	NM_173464.3	94	826,2654,2567	TT,TC,CC		38.5973,29.1318,35.6044	possibly-damaging	618/624	5956238	4306,7788	1912	4135	6047	SO:0001583	missense	91133	exon20			TCTTGGCCTGAGG	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1853G>A	18.37:g.5956238C>T	ENSP00000284898:p.Gly618Asp	Somatic	178	2	0.011236		WXS	Illumina HiSeq	Phase_I	181	179	0.98895	NM_173464	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	831	0.3804945054945055	147	0.29878048780487804	103	0.2845303867403315	268	0.46853146853146854	313	0.4129287598944591	C	10.73	1.432921	0.25813	0.291318	0.385973	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.16457	2.34;2.36;2.34;2.36	5.49	2.78	0.32641	.	0.425518	0.20187	N	0.097387	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.21225	0.053;0.049	B;B	0.23018	0.019;0.043	T	0.46062	-0.9218	9	0.39692	T	0.17	.	7.854	0.29472	0.0:0.741:0.0:0.259	rs3737353;rs58882188;rs3737353	618;609	Q8NA19;F8W9S8	LMBL4_HUMAN;.	D	618;609;618;422	ENSP00000382976:G618D;ENSP00000318543:G609D;ENSP00000284898:G618D;ENSP00000444774:G422D	ENSP00000284898:G618D	G	-	2	0	L3MBTL4	5946238	0.015000	0.18098	0.010000	0.14722	0.006000	0.05464	0.125000	0.15749	0.310000	0.22990	-0.880000	0.02959	GGC	C|0.627;T|0.373	0.373	strong		0.463	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		T	5956238	C	T	5956238	3	4	23	1	0	0	0	0	1	0	0	0	8594	739	26	2	22	2	L3MBTL4	18	5956238	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	477904	5956238	72121010	4053	20509										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7023371	7023371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttccatagtaaccatctgcAcatctgtatcaaagattgaa	5	9	3	2	rs684634	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:7023371A>G	ENST00000389658.3	-	19	2586	c.2493T>C	c.(2491-2493)tgT>tgC	p.C831C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	831	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AACCATCTGCACATCTGTATC	0.502													G|||	2190	0.4373	0.8533	0.389	5008	,	,		20795	0.1429		0.3807	False		,,,				2504	0.271				p.C831C		Atlas-SNP	.											LAMA1,NS,adenoma,0,1	LAMA1	458	1	0			c.T2493C						scavenged	.	G		3319,1087	389.8+/-327.4	1257,805,141	77	75	75		2493	-6	0.9	18	dbSNP_83	75	3267,5333	645.7+/-400.2	603,2061,1636	no	coding-synonymous	LAMA1	NM_005559.3		1860,2866,1777	GG,GA,AA		37.9884,24.6709,49.3618		831/3076	7023371	6586,6420	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon19			ATCTGCACATCTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2493T>C	18.37:g.7023371A>G		Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	83	82	0.987952	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			A|0.524;G|0.476	0.476	strong		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7023371	A	G	7023371	2	3	23	1	0	0	0	0	0	0	0	1	8605	157	6	2		2	LAMA1	18	7023371	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1067133	7023371	71053877	4054	20510										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7033037	7033037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacagtgctccacatcagcGgccaccaccaggtcgatggc	10	16	2	0	rs621993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:7033037G>A	ENST00000389658.3	-	15	2202	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	703	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCACATCAGCGGCCACCACCA	0.512													G|||	2036	0.40655	0.708	0.3905	5008	,	,		18010	0.1319		0.4036	False		,,,				2504	0.2965				p.A703A		Atlas-SNP	.											LAMA1,brain,glioma,-1,1	LAMA1	458	1	0			c.C2109T						scavenged	.	G		2823,1583	657.4+/-400.2	894,1035,274	107	78	88		2109	-0.5	0	18	dbSNP_83	88	3478,5122	495.4+/-374.0	690,2098,1512	no	coding-synonymous	LAMA1	NM_005559.3		1584,3133,1786	AA,AG,GG		40.4419,35.9283,48.4469		703/3076	7033037	6301,6705	2203	4300	6503	SO:0001819	synonymous_variant	284217	exon15			ATCAGCGGCCACC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2109C>T	18.37:g.7033037G>A		Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	45	45	1	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			G|0.542;A|0.458	0.458	strong		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7033037	G	A	7033037	2	1	23	1	0	0	0	0	0	0	0	1	8605	1103	39	1		1	LAMA1	18	7033037	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9666	7033037	71044211	4055	20511										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7034508	7034508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatttttgcagaattgtagTtggctctgatcaaaagatgt	9	6	2	3	rs566655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:7034508T>G	ENST00000389658.3	-	14	2114	c.2021A>C	c.(2020-2022)aAc>aCc	p.N674T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	674	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.		N -> T (in dbSNP:rs566655). {ECO:0000269|PubMed:1714537, ECO:0000269|PubMed:2049067}.		axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGAATTGTAGTTGGCTCTGAT	0.378													T|||	752	0.15016	0.1467	0.1974	5008	,	,		17017	0.1042		0.2247	False		,,,				2504	0.092				p.N674T		Atlas-SNP	.											.	LAMA1	458	.	0			c.A2021C						PASS	.	T	THR/ASN	724,3682	298.4+/-285.3	65,594,1544	115	111	113		2021	4.8	1	18	dbSNP_83	113	1987,6613	347.4+/-326.6	242,1503,2555	yes	missense	LAMA1	NM_005559.3	65	307,2097,4099	GG,GT,TT		23.1047,16.4321,20.8442	benign	674/3076	7034508	2711,10295	2203	4300	6503	SO:0001583	missense	284217	exon14			TTGTAGTTGGCTC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2021A>C	18.37:g.7034508T>G	ENSP00000374309:p.Asn674Thr	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	186	88	0.473118	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	382	0.1749084249084249	70	0.14227642276422764	65	0.17955801104972377	72	0.1258741258741259	175	0.23087071240105542	T	4.754	0.140128	0.09083	0.164321	0.231047	ENSG00000101680	ENST00000389658	T	0.29917	1.55	5.9	4.75	0.60458	Laminin B type IV (2);Laminin B, subgroup (1);	0.170205	0.51477	D	0.000090	T	0.00012	0.0000	N	0.05050	-0.12	0.32727	P	0.509567	P	0.41475	0.751	B	0.44315	0.446	T	0.13575	-1.0504	9	0.02654	T	1	.	9.7988	0.40751	0.0:0.1374:0.0:0.8626	rs566655;rs17442820;rs52791113;rs59387906;rs566655	674	P25391	LAMA1_HUMAN	T	674	ENSP00000374309:N674T	ENSP00000374309:N674T	N	-	2	0	LAMA1	7024508	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.256000	0.18351	1.067000	0.40740	0.533000	0.62120	AAC	T|0.807;G|0.193	0.193	strong		0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7034508	T	G	7034508	3	3	23	1	0	0	0	0	1	0	0	0	8605	1725	60	5	7406	5	LAMA1	18	7034508	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1471	7034508	71042740	4056	20512										
LAMA1	284217	hgsc.bcm.edu	37	chr18	7080048	7080048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgggactttgccaccagtTattggtgccatctatggcat	11	10	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:7080048T>C	ENST00000389658.3	-	3	364	c.271A>G	c.(271-273)Aac>Gac	p.N91D	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	91	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCCACCAGTTATTGGTGCCA	0.418																																					p.N91D		Atlas-SNP	.											.	LAMA1	458	.	0			c.A271G						PASS	.						167	135	146					18																	7080048		2203	4300	6503	SO:0001583	missense	284217	exon3			ACCAGTTATTGGT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.271A>G	18.37:g.7080048T>C	ENSP00000374309:p.Asn91Asp	Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	246	116	0.471545	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140937	0.56936	.	.	ENSG00000101680	ENST00000389658	T	0.75821	-0.97	5.61	4.45	0.53987	Laminin, N-terminal (3);	0.245554	0.40908	D	0.000990	T	0.60495	0.2273	L	0.31526	0.94	0.29065	N	0.883622	B	0.19200	0.034	B	0.16289	0.015	T	0.57911	-0.7729	10	0.72032	D	0.01	.	7.2768	0.26290	0.0:0.0731:0.157:0.7699	.	91	P25391	LAMA1_HUMAN	D	91	ENSP00000374309:N91D	ENSP00000374309:N91D	N	-	1	0	LAMA1	7070048	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.279000	0.43435	0.964000	0.38108	0.533000	0.62120	AAC	.	.	none		0.418	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	7080048	T	C	7080048	3	2	23	1	0	0	0	0	1	0	0	0	8605	1754	61	2	9200	2	LAMA1	18	7080048	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	45540	7080048	70997200	4057	20513										
PPP4R1	9989	hgsc.bcm.edu	37	chr18	9570320	9570320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagttctgttcaagctctaTgtctagatctatttcaggaa	8	7	6	2	rs329003	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:9570320T>C	ENST00000400556.3	-	11	1481	c.1408A>G	c.(1408-1410)Ata>Gta	p.I470V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.I453V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	470			I -> V (in dbSNP:rs329003).		dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TCAAGCTCTATGTCTAGATCT	0.493													T|||	204	0.0407348	0.0091	0.0793	5008	,	,		16476	0.0		0.1153	False		,,,				2504	0.0215				p.I470V	Melanoma(188;1232 2082 5061 11948 35994)	Atlas-SNP	.											.	PPP4R1	63	.	0			c.A1408G						PASS	.	T	VAL/ILE,VAL/ILE	82,3576		0,82,1747	77	71	73		1408,1357	-4.3	0	18	dbSNP_79	73	868,7300		54,760,3270	yes	missense,missense	PPP4R1	NM_001042388.1,NM_005134.2	29,29	54,842,5017	CC,CT,TT		10.6268,2.2417,8.0331	benign,benign	470/951,453/934	9570320	950,10876	1829	4084	5913	SO:0001583	missense	9989	exon11			GCTCTATGTCTAG	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1408A>G	18.37:g.9570320T>C	ENSP00000383402:p.Ile470Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	150	60	0.4	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	112	0.05128205128205128	1	0.0020325203252032522	30	0.08287292817679558	0	0.0	81	0.10686015831134564	T	4.242	0.043900	0.08196	0.022417	0.106268	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.13657	2.57;2.57	5.27	-4.34	0.03666	Armadillo-type fold (1);	1.091820	0.07025	N	0.827457	T	0.00073	0.0002	N	0.02011	-0.69	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.43048	-0.9415	8	.	.	.	-0.1993	1.7761	0.03022	0.1213:0.2652:0.1782:0.4353	rs329003;rs52816270;rs60829427;rs329003	453;470;453	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	470;453;381	ENSP00000383402:I470V;ENSP00000383401:I453V	.	I	-	1	0	PPP4R1	9560320	0.000000	0.05858	0.020000	0.16555	0.948000	0.59901	-0.285000	0.08410	-0.407000	0.07576	0.482000	0.46254	ATA	T|0.940;C|0.060	0.060	strong		0.493	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		C	9570320	T	C	9570320	3	2	23	1	0	0	0	0	1	0	0	0	12403	1464	51	2	1484	2	PPP4R1	18	9570320	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2490272	9570320	68506928	4058	20514										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9887394	9887394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaagtccctagaggaagcCatccagcccaaggagggtga	12	13	0	2	rs2240910	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:9887394C>T	ENST00000306084.6	+	2	1117	c.918C>T	c.(916-918)gcC>gcT	p.A306A	TXNDC2_ENST00000357775.5_Silent_p.A239A|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	306	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TAGAGGAAGCCATCCAGCCCA	0.602													-|||	2596	0.518371	0.3623	0.5331	5008	,	,		20966	0.8155		0.4761	False		,,,				2504	0.456				p.A306A		Atlas-SNP	.											TXNDC2_ENST00000306084,colon,carcinoma,0,2	TXNDC2	168	2	0			c.C918T						PASS	.	C	,	1751,2655		357,1037,809	132	127	128		918,717	-0.1	0	18	dbSNP_98	128	4210,4390		1043,2124,1133	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	1400,3161,1942	TT,TC,CC		48.9535,39.7413,45.8327	,	306/554,239/487	9887394	5961,7045	2203	4300	6503	SO:0001819	synonymous_variant	84203	exon2			GGAAGCCATCCAG	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.918C>T	18.37:g.9887394C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	81	47	0.580247	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																			C|0.531;T|0.469	0.469	strong		0.602	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			T	9887394	C	T	9887394	2	4	23	1	0	0	0	0	0	0	0	1	16794	581	21	2		2	TXNDC2	18	9887394	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	317074	9887394	68189854	4059	20515										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9887936	9887936	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggccctgcaggaccatcaGaccattcttccatgccctgt	9	15	2	1	rs17805544	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:9887936G>C	ENST00000306084.6	+	2	1659	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	TXNDC2_ENST00000357775.5_Missense_Mutation_p.R420T|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	487	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> T (in dbSNP:rs17805544). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGACCATCAGACCATTCTTC	0.592													G|||	195	0.0389377	0.003	0.0519	5008	,	,		17872	0.0		0.1402	False		,,,				2504	0.0143				p.R487T		Atlas-SNP	.											.	TXNDC2	168	.	0			c.G1460C						PASS	.	G	THR/ARG,THR/ARG	118,4288	89.2+/-127.9	2,114,2087	113	86	95		1460,1259	-2	0	18	dbSNP_123	95	1189,7411	242.6+/-272.5	71,1047,3182	yes	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	71,71	73,1161,5269	CC,CG,GG		13.8256,2.6782,10.0492	possibly-damaging,possibly-damaging	487/554,420/487	9887936	1307,11699	2203	4300	6503	SO:0001583	missense	84203	exon2			CCATCAGACCATT	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1460G>C	18.37:g.9887936G>C	ENSP00000304908:p.Arg487Thr	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	294	141	0.479592	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	136	0.06227106227106227	2	0.0040650406504065045	17	0.04696132596685083	0	0.0	117	0.15435356200527706	G	7.347	0.622026	0.14193	0.026782	0.138256	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.03212	4.01;4.01	4.05	-1.97	0.07503	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.327137	0.31897	N	0.006882	T	0.00012	0.0000	N	0.02765	-0.5	0.80722	P	0.0	P	0.52692	0.955	P	0.48488	0.579	T	0.50980	-0.8763	8	.	.	.	-8.6918	9.7446	0.40440	0.5675:0.0:0.4325:0.0	rs17805544;rs52812014;rs17805544	487	Q86VQ3	TXND2_HUMAN	T	285;420;487;472	ENSP00000350419:R420T;ENSP00000304908:R487T	.	R	+	2	0	TXNDC2	9877936	0.864000	0.29904	0.001000	0.08648	0.001000	0.01503	-0.041000	0.12084	-0.707000	0.05022	-1.847000	0.00572	AGA	G|0.916;C|0.084	0.084	strong		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			C	9887936	G	C	9887936	3	2	23	1	0	0	0	0	1	0	0	0	16794	942	33	4	1466	4	TXNDC2	18	9887936	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	542	9887936	68189312	4060	20516										
TXNDC2	84203	hgsc.bcm.edu	37	chr18	9888069	9888069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcagttttataaaaaagaAgaaaaggtggatgaactttg	9	2	1	3	rs2240905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:9888069A>G	ENST00000306084.6	+	2	1792	c.1593A>G	c.(1591-1593)gaA>gaG	p.E531E	TXNDC2_ENST00000357775.5_Silent_p.E464E|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	531	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATAAAAAAGAAGAAAAGGTGG	0.438													A|||	2778	0.554712	0.472	0.5778	5008	,	,		20063	0.8175		0.4791	False		,,,				2504	0.4571				p.E531E		Atlas-SNP	.											TXNDC2_ENST00000306084,colon,carcinoma,0,2	TXNDC2	168	2	0			c.A1593G						PASS	.	A	,	2154,2252	577.4+/-384.4	540,1074,589	43	44	44		1593,1392	0.3	1	18	dbSNP_98	44	4220,4380	568.4+/-389.0	1048,2124,1128	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	1588,3198,1717	GG,GA,AA		49.0698,48.8879,49.0082	,	531/554,464/487	9888069	6374,6632	2203	4300	6503	SO:0001819	synonymous_variant	84203	exon2			AAAAGAAGAAAAG	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1593A>G	18.37:g.9888069A>G		Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	136	136	1	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																			G|0.522;N|0.000	0.522	strong		0.438	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			G	9888069	A	G	9888069	2	3	23	1	0	0	0	0	0	0	0	1	16794	69	3	3		3	TXNDC2	18	9888069	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	133	9888069	68189179	4061	20517										
FAM38B	63895	hgsc.bcm.edu	37	chr18	10681711	10681711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagctctgctggtccataaCtttcaactggctttgttggg	10	9	2	0	rs3748428	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:10681711C>T	ENST00000503781.3	-	47	7386	c.7387G>A	c.(7387-7389)Gtt>Att	p.V2463I	PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V255I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.V420I|PIEZO2_ENST00000302079.6_Missense_Mutation_p.V2400I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2488I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2463			V -> I (in dbSNP:rs3748428). {ECO:0000269|Ref.1}.		cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TGGTCCATAACTTTCAACTGG	0.408													C|||	579	0.115615	0.0219	0.1427	5008	,	,		18706	0.1786		0.1491	False		,,,				2504	0.1237				p.V2463I		Atlas-SNP	.											.	.	.	.	0			c.G7387A						PASS	.	C	ILE/VAL	123,4283	92.0+/-130.7	1,121,2081	157	152	153		7387	5.1	1	18	dbSNP_107	153	1124,7476	231.9+/-265.7	69,986,3245	yes	missense	PIEZO2	NM_022068.2	29	70,1107,5326	TT,TC,CC		13.0698,2.7916,9.5879	benign	2463/2753	10681711	1247,11759	2203	4300	6503	SO:0001583	missense	63895	exon47			CCATAACTTTCAA	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7387G>A	18.37:g.10681711C>T	ENSP00000421377:p.Val2463Ile	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	114	66	0.578947	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		310	0.14194139194139194	18	0.036585365853658534	56	0.15469613259668508	125	0.21853146853146854	111	0.14643799472295516	C	10.17	1.277813	0.23307	0.027916	0.130698	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.72725	-0.68;-0.68	5.12	5.12	0.69794	.	0.275088	0.30850	N	0.008741	T	0.00039	0.0001	N	0.22421	0.69	0.42504	P	0.007051999999999947	B	0.29481	0.245	B	0.31101	0.124	T	0.04678	-1.0934	9	0.22109	T	0.4	.	11.9455	0.52926	0.0:0.8729:0.0:0.1271	rs3748428;rs17550999;rs56544279;rs61174242;rs3748428	357	D6RFZ0	.	I	357;2463;420;255	ENSP00000443129:V420I;ENSP00000285141:V255I	ENSP00000285141:V255I	V	-	1	0	FAM38B	10671711	0.025000	0.19082	1.000000	0.80357	0.786000	0.44442	0.205000	0.17356	2.549000	0.85964	0.561000	0.74099	GTT	C|0.882;T|0.118	0.118	strong		0.408	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		T	10681711	C	T	10681711	3	4	23	1	0	0	0	0	1	0	0	0	5555	565	20	2	895	2	FAM38B	18	10681711	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	793642	10681711	67395537	4062	20518										
TUBB6	84617	hgsc.bcm.edu	37	chr18	12308793	12308793	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctactacaatgagtcatcGtgtgagtagcaaggccgccg	12	10	2	2	rs11267036	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:12308793G>C	ENST00000317702.5	+	2	399	c.165G>C	c.(163-165)tcG>tcC	p.S55S	TUBB6_ENST00000590967.1_Splice_Site_p.S55S|TUBB6_ENST00000591909.1_Splice_Site_p.S55S|TUBB6_ENST00000586653.1_Splice_Site_p.S55S|TUBB6_ENST00000592683.1_Splice_Site_p.S55S|TUBB6_ENST00000591208.1_Splice_Site_p.S55S			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	55					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGAGTCATCGTGTGAGTAGC	0.642													G|||	648	0.129393	0.084	0.1801	5008	,	,		10583	0.1478		0.1322	False		,,,				2504	0.1329				p.S55S		Atlas-SNP	.											.	TUBB6	35	.	0			c.G165C						PASS	.	G		356,4050	181.2+/-209.3	12,332,1859	46	47	46		165	-7.4	0.8	18	dbSNP_120	46	968,7632	207.9+/-249.5	49,870,3381	yes	coding-synonymous-near-splice	TUBB6	NM_032525.1		61,1202,5240	CC,CG,GG		11.2558,8.0799,10.1799		55/447	12308793	1324,11682	2203	4300	6503	SO:0001630	splice_region_variant	84617	exon2			GTCATCGTGTGAG	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.166+1G>C	18.37:g.12308793G>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	122	55	0.45082	NM_032525	B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	CCDS11858.1																																																																																			G|0.887;C|0.113	0.113	strong		0.642	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	Silent	C	12308793	G	C	12308793	5	2	23	1	0	0	0	0	0	0	1	0	16757	1159	40	4	171	4	TUBB6	18	12308793	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1627082	12308793	65768455	4063	20519										
C18orf8	29919	hgsc.bcm.edu	37	chr18	21109997	21109997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacttttgtcctcagcattaCctacatgaacttgttatcaa	4	10	2	1	rs34136453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:21109997C>T	ENST00000269221.3	+	17	1610	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.Y452Y	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	500	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCAGCATTACCTACATGAAC	0.438													C|||	27	0.00539137	0.0023	0.0014	5008	,	,		22282	0.001		0.0109	False		,,,				2504	0.0112				p.Y500Y		Atlas-SNP	.											.	C18orf8	58	.	0			c.C1500T						PASS	.	C		10,4396	16.8+/-37.8	0,10,2193	299	297	298		1500	3.5	0.6	18	dbSNP_126	298	67,8533	41.7+/-99.0	0,67,4233	no	coding-synonymous	C18orf8	NM_013326.3		0,77,6426	TT,TC,CC		0.7791,0.227,0.592		500/658	21109997	77,12929	2203	4300	6503	SO:0001819	synonymous_variant	29919	exon17			GCATTACCTACAT	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1500C>T	18.37:g.21109997C>T		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	203	109	0.536946	NM_013326	Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	CCDS32803.1																																																																																			C|0.993;T|0.007	0.007	strong		0.438	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		T	21109997	C	T	21109997	2	4	23	1	0	0	0	0	0	0	0	1	1907	518	18	2		2	C18orf8	18	21109997	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8801204	21109997	56967251	4064	20520										
NPC1	4864	hgsc.bcm.edu	37	chr18	21123523	21123523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagggtttccccttgaagaCgttcatctctcttaaaaaaa	6	11	3	2	rs375047023		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:21123523C>T	ENST00000269228.5	-	14	2695	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H	NPC1_ENST00000412552.2_Missense_Mutation_p.R396H|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	714	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCTTGAAGACGTTCATCTCT	0.403																																					p.R714H		Atlas-SNP	.											.	NPC1	114	.	0			c.G2141A						PASS	.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	66	65		2141	4.9	1	18		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPC1	NM_000271.4	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	714/1279	21123523	2,13004	2203	4300	6503	SO:0001583	missense	4864	exon14			TGAAGACGTTCAT	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2141G>A	18.37:g.21123523C>T	ENSP00000269228:p.Arg714His	Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	15	9	0.6	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719159	0.89205	2.27E-4	1.16E-4	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.95949	-3.86;-3.86	5.79	4.93	0.64822	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	L	0.60067	1.865	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.54889	0.679;0.763	D	0.95741	0.8783	10	0.56958	D	0.05	-14.1977	14.8323	0.70156	0.0:0.9311:0.0:0.0689	.	725;714	Q59GR1;O15118	.;NPC1_HUMAN	H	714;396;559	ENSP00000269228:R714H;ENSP00000408606:R396H	ENSP00000269228:R714H	R	-	2	0	NPC1	19377521	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.448000	0.80631	1.472000	0.48140	-0.142000	0.14014	CGT	.	.	weak		0.403	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21123523	C	T	21123523	3	4	23	1	0	0	0	0	1	0	0	0	10570	536	19	1	1743	1	NPC1	18	21123523	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13526	21123523	56953725	4065	20521										
CABYR	114876	hgsc.bcm.edu	37	chr18	21739725	21739725	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagggatggaaacctcttccTggacatgctgtcgtttcaca	10	11	2	0	rs1049684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:21739725T>C	ENST00000319481.3	-	0	4195				CABYR_ENST00000399496.3_Silent_p.P277P|CABYR_ENST00000399499.1_Silent_p.P277P|CABYR_ENST00000581397.1_Silent_p.P277P|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Silent_p.P179P	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AACCTCTTCCTGGACATGCTG	0.458													T|||	2360	0.471246	0.5605	0.3919	5008	,	,		22303	0.4444		0.3897	False		,,,				2504	0.5184				p.P277P		Atlas-SNP	.											.	CABYR	51	.	0			c.T831C						PASS	.	T	,,,,,	2437,1969	620.1+/-393.5	661,1115,427	89	89	89		,537,831,,831,	2.2	1	18	dbSNP_86	89	2998,5602	463.4+/-366.0	493,2012,1795	no	utr-3,coding-synonymous,coding-synonymous,utr-3,coding-synonymous,intron	CABYR	NM_012189.2,NM_138643.1,NM_138644.1,NM_153768.1,NM_153769.1,NM_153770.1	,,,,,	1154,3127,2222	CC,CT,TT		34.8605,44.6891,41.7884	,,,,,	,179/282,277/380,,277/380,	21739725	5435,7571	2203	4300	6503	SO:0001628	intergenic_variant	26256	exon5			TCTTCCTGGACAT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739725T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	129	62	0.48062	NM_153769	B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																			T|0.561;C|0.439	0.439	strong		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		C	21739725	T	C	21739725	1	2	23	0	1	0	0	0	0	0	0	0	2536	1567	55	3		3	CABYR	18	21739725	IGR	SNP	T	TCGA-GR-7353-01A-11D-2210-10	616202	21739725	56337523	4066	20522										
IMPACT	55364	hgsc.bcm.edu	37	chr18	22020467	22020467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catattcacataggcccagaTgtaaagaagaaaactgaaga	8	7	1	5	rs582234	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:22020467T>A	ENST00000284202.4	+	6	516	c.375T>A	c.(373-375)gaT>gaA	p.D125E	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	125			D -> E (in dbSNP:rs582234).		negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TAGGCCCAGATGTAAAGAAGA	0.363													T|||	427	0.0852636	0.0356	0.1556	5008	,	,		19660	0.0188		0.1322	False		,,,				2504	0.1227				p.D125E		Atlas-SNP	.											.	IMPACT	37	.	0			c.T375A						PASS	.	T	GLU/ASP	285,4121	158.9+/-191.5	10,265,1928	126	117	120		375	-9.9	0	18	dbSNP_83	120	1317,7283	259.7+/-282.8	114,1089,3097	yes	missense	IMPACT	NM_018439.3	45	124,1354,5025	AA,AT,TT		15.314,6.4685,12.3174	benign	125/321	22020467	1602,11404	2203	4300	6503	SO:0001583	missense	55364	exon6			CCCAGATGTAAAG	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.375T>A	18.37:g.22020467T>A	ENSP00000284202:p.Asp125Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	102	102	1	NM_018439	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	187	0.08562271062271062	21	0.042682926829268296	59	0.16298342541436464	6	0.01048951048951049	101	0.13324538258575197	T	7.378	0.628265	0.14257	0.064685	0.15314	ENSG00000154059	ENST00000284202	T	0.27557	1.66	4.97	-9.94	0.00449	.	0.453643	0.24303	N	0.039716	T	0.00039	0.0001	L	0.46614	1.455	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.44436	-0.9328	9	0.02654	T	1	.	2.223	0.03977	0.3214:0.3618:0.1897:0.1271	rs582234;rs1303257;rs11557328;rs17797897;rs582234	125	Q9P2X3	IMPCT_HUMAN	E	125	ENSP00000284202:D125E	ENSP00000284202:D125E	D	+	3	2	IMPACT	20274465	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-2.367000	0.01078	-2.168000	0.00778	-0.433000	0.05886	GAT	T|0.899;A|0.101	0.101	strong		0.363	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		A	22020467	T	A	22020467	3	1	23	1	0	0	0	0	1	0	0	0	7724	1461	51	5	397	5	IMPACT	18	22020467	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	280742	22020467	56056781	4067	20523										
ZNF521	25925	hgsc.bcm.edu	37	chr18	22775185	22775185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtagaaaaccatctgacaCttgatgcattgataggtctt	8	7	2	4	rs1140026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:22775185C>T	ENST00000361524.3	-	5	3745	c.3597G>A	c.(3595-3597)aaG>aaA	p.K1199K	ZNF521_ENST00000584787.1_Silent_p.K979K|ZNF521_ENST00000538137.2_Silent_p.K1199K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1199					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCATCTGACACTTGATGCATT	0.323			T	PAX5	ALL								C|||	1135	0.226637	0.1316	0.2089	5008	,	,		19650	0.2768		0.2535	False		,,,				2504	0.2883				p.K1199K		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.G3597A						PASS	.	C		631,3773	271.6+/-270.3	33,565,1604	145	126	133		3597	5.6	1	18	dbSNP_86	133	2084,6516	357.9+/-330.9	254,1576,2470	no	coding-synonymous	ZNF521	NM_015461.2		287,2141,4074	TT,TC,CC		24.2326,14.3279,20.8782		1199/1312	22775185	2715,10289	2202	4300	6502	SO:0001819	synonymous_variant	25925	exon5			CTGACACTTGATG	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3597G>A	18.37:g.22775185C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	93	93	1	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																			C|0.786;T|0.214	0.214	strong		0.323	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22775185	C	T	22775185	2	4	23	1	0	0	0	0	0	0	0	1	17962	564	20	2		2	ZNF521	18	22775185	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	754718	22775185	55302063	4068	20524										
TAF4B	6875	hgsc.bcm.edu	37	chr18	23866185	23866185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcagacttcaaaaccacttGtgacatctgtggcaaacaca	6	11	3	2	rs74947492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:23866185G>C	ENST00000269142.5	+	7	2310	c.1312G>C	c.(1312-1314)Gtg>Ctg	p.V438L	TAF4B_ENST00000578121.1_Missense_Mutation_p.V438L|TAF4B_ENST00000400466.2_Missense_Mutation_p.V438L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	438					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAACCACTTGTGACATCTGT	0.488													G|||	223	0.0445288	0.0151	0.0663	5008	,	,		22685	0.0089		0.0954	False		,,,				2504	0.0532				p.V438L		Atlas-SNP	.											.	TAF4B	71	.	0			c.G1312C						PASS	.	G	LEU/VAL	130,3784		5,120,1832	58	57	57		1312	2.9	1	18	dbSNP_131	57	863,7455		35,793,3331	yes	missense	TAF4B	NM_005640.1	32	40,913,5163	CC,CG,GG		10.3751,3.3214,8.1181	benign	438/863	23866185	993,11239	1957	4159	6116	SO:0001583	missense	6875	exon7			CCACTTGTGACAT	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1312G>C	18.37:g.23866185G>C	ENSP00000269142:p.Val438Leu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_005640	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	115	0.052655677655677656	9	0.018292682926829267	34	0.09392265193370165	5	0.008741258741258742	67	0.08839050131926121	G	10.51	1.371004	0.24771	0.033214	0.103751	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.23552	1.9;1.91;1.9	5.72	2.91	0.33838	.	0.207171	0.32459	N	0.006066	T	0.00271	0.0008	N	0.11560	0.145	0.58432	P	1.999999999946489E-6	B;B	0.30406	0.278;0.117	B;B	0.24974	0.057;0.035	T	0.23190	-1.0195	9	0.18710	T	0.47	-0.654	4.4493	0.11612	0.2542:0.0:0.5562:0.1896	.	438;438	Q92750;A4PBF7	TAF4B_HUMAN;.	L	438	ENSP00000389365:V438L;ENSP00000269142:V438L;ENSP00000383314:V438L	ENSP00000269142:V438L	V	+	1	0	TAF4B	22120183	0.001000	0.12720	0.990000	0.47175	0.937000	0.57800	0.138000	0.16016	0.753000	0.32945	0.557000	0.71058	GTG	G|0.926;C|0.074	0.074	strong		0.488	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		C	23866185	G	C	23866185	3	2	23	1	0	0	0	0	1	0	0	0	15524	1377	48	4	1338	4	TAF4B	18	23866185	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1091000	23866185	54211063	4069	20525										
DSG1	1828	hgsc.bcm.edu	37	chr18	28919763	28919763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaacattcaaagttttggtAatgacgacaggactaataca	7	6	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:28919763A>C	ENST00000257192.4	+	11	1674	c.1462A>C	c.(1462-1464)Aat>Cat	p.N488H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGTTTTGGTAATGACGACAG	0.328																																					p.N488H		Atlas-SNP	.											DSG1,NS,carcinoma,-2,1	DSG1	176	1	0			c.A1462C						PASS	.						80	81	81					18																	28919763		2203	4300	6503	SO:0001583	missense	1828	exon11			TTTGGTAATGACG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1462A>C	18.37:g.28919763A>C	ENSP00000257192:p.Asn488His	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	138	52	0.376812	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	4.359	0.066056	0.08388	.	.	ENSG00000134760	ENST00000257192	T	0.58210	0.35	3.05	-5.83	0.02325	Cadherin (2);	3.162780	0.00531	N	0.000201	T	0.32675	0.0837	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16689	-1.0394	10	0.72032	D	0.01	.	0.9696	0.01413	0.2735:0.1294:0.3832:0.2139	.	488	Q02413	DSG1_HUMAN	H	488	ENSP00000257192:N488H	ENSP00000257192:N488H	N	+	1	0	DSG1	27173761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.215000	0.09279	-0.831000	0.04256	-0.574000	0.04147	AAT	.	.	none		0.328	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		C	28919763	A	C	28919763	3	2	23	1	0	0	0	0	1	0	0	0	4776	362	13	5	1504	5	DSG1	18	28919763	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5053578	28919763	49157485	4070	20526										
DSG1	1828	hgsc.bcm.edu	37	chr18	28934408	28934408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgacagcttcttggataCcctgggacctaaatttaaga	10	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:28934408C>T	ENST00000257192.4	+	15	2461	c.2249C>T	c.(2248-2250)aCc>aTc	p.T750I	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.T109I	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	750					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTCTTGGATACCCTGGGACCT	0.463																																					p.T750I		Atlas-SNP	.											DSG1,NS,carcinoma,-1,1	DSG1	176	1	0			c.C2249T						scavenged	.						124	124	124					18																	28934408		2203	4300	6503	SO:0001583	missense	1828	exon15			TGGATACCCTGGG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2249C>T	18.37:g.28934408C>T	ENSP00000257192:p.Thr750Ile	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307282	0.40795	.	.	ENSG00000134760	ENST00000257192	T	0.77229	-1.08	6.04	5.14	0.70334	Cadherin, cytoplasmic domain (1);	0.081639	0.52532	D	0.000067	D	0.84120	0.5402	L	0.52011	1.625	0.34932	D	0.749495	D	0.76494	0.999	D	0.73380	0.98	D	0.87750	0.2591	10	0.62326	D	0.03	.	14.369	0.66826	0.2661:0.7339:0.0:0.0	.	750	Q02413	DSG1_HUMAN	I	750	ENSP00000257192:T750I	ENSP00000257192:T750I	T	+	2	0	DSG1	27188406	0.975000	0.34042	0.966000	0.40874	0.834000	0.47266	2.481000	0.45215	2.873000	0.98535	0.563000	0.77884	ACC	.	.	none		0.463	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28934408	C	T	28934408	3	4	23	1	0	0	0	0	1	0	0	0	4776	507	18	2	2307	2	DSG1	18	28934408	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14645	28934408	49142840	4071	20527										
MEP1B	4225	hgsc.bcm.edu	37	chr18	29782953	29782953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggagaaacaaactatatAtcagtgttcaagggcagtgg	12	6	2	1	rs71361372	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:29782953A>G	ENST00000269202.6	+	6	395	c.348A>G	c.(346-348)atA>atG	p.I116M	MEP1B_ENST00000581447.1_Missense_Mutation_p.I116M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	116	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAAACTATATATCAGTGTTCA	0.413													A|||	36	0.0071885	0.0015	0.0086	5008	,	,		20162	0.0		0.0129	False		,,,				2504	0.0153				p.I116M		Atlas-SNP	.											.	MEP1B	54	.	0			c.A348G						PASS	.	A	MET/ILE	13,3787		0,13,1887	83	81	82		348	1.2	1	18	dbSNP_130	82	141,8103		3,135,3984	yes	missense	MEP1B	NM_005925.2	10	3,148,5871	GG,GA,AA		1.7103,0.3421,1.2786	probably-damaging	116/702	29782953	154,11890	1900	4122	6022	SO:0001583	missense	4225	exon6			CTATATATCAGTG	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.348A>G	18.37:g.29782953A>G	ENSP00000269202:p.Ile116Met	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	39	24	0.615385	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	16	0.007326007326007326	0	0.0	5	0.013812154696132596	0	0.0	11	0.014511873350923483	A	18.72	3.684857	0.68157	0.003421	0.017103	ENSG00000141434	ENST00000269202	T	0.70749	-0.51	5.72	1.22	0.21188	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	M	0.91972	3.26	0.38390	D	0.945362	D	0.89917	1.0	D	0.81914	0.995	T	0.80837	-0.1204	10	0.87932	D	0	-18.6302	8.2453	0.31684	0.5426:0.3346:0.0:0.1228	.	116	Q16820	MEP1B_HUMAN	M	116	ENSP00000269202:I116M	ENSP00000269202:I116M	I	+	3	3	MEP1B	28036951	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.052000	0.30429	0.376000	0.24707	0.533000	0.62120	ATA	A|0.992;G|0.008	0.008	strong		0.413	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		G	29782953	A	G	29782953	3	3	23	1	0	0	0	0	1	0	0	0	9476	439	16	2	370	2	MEP1B	18	29782953	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	848545	29782953	48294295	4072	20528										
MEP1B	4225	hgsc.bcm.edu	37	chr18	29788107	29788107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttgagttttatggactcGtgcagttttgaactggaaaa	10	6	0	2	rs4799640	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:29788107G>A	ENST00000269202.6	+	9	839	c.792G>A	c.(790-792)tcG>tcA	p.S264S	MEP1B_ENST00000581447.1_Silent_p.S264S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	264	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTATGGACTCGTGCAGTTTTG	0.408													G|||	1154	0.230431	0.2814	0.1902	5008	,	,		19138	0.126		0.2207	False		,,,				2504	0.3078				p.S264S		Atlas-SNP	.											.	MEP1B	54	.	0			c.G792A						PASS	.	G		1006,2760		141,724,1018	220	213	215		792	-10.8	0.3	18	dbSNP_111	215	2010,6240		255,1500,2370	no	coding-synonymous	MEP1B	NM_005925.2		396,2224,3388	AA,AG,GG		24.3636,26.7127,25.0999		264/702	29788107	3016,9000	1883	4125	6008	SO:0001819	synonymous_variant	4225	exon9			GGACTCGTGCAGT	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.792G>A	18.37:g.29788107G>A		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	222	89	0.400901	NM_005925	B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	CCDS45846.1																																																																																			G|0.778;A|0.222	0.222	strong		0.408	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		A	29788107	G	A	29788107	2	1	23	1	0	0	0	0	0	0	0	1	9476	1132	40	1		1	MEP1B	18	29788107	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5154	29788107	48289141	4073	20529										
C18orf34	374864	hgsc.bcm.edu	37	chr18	30928852	30928852	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caagtaggaggaacaactttAcctctcttttctcctggttt	7	10	2	0	rs140419270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:30928852A>G	ENST00000383096.3	-	8	640		c.e8+1		CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178									p.?(2)									GAACAACTTTACCTCTCTTTT	0.323													A|||	8	0.00159744	0.0	0.0029	5008	,	,		15391	0.0		0.005	False		,,,				2504	0.001				.		Atlas-SNP	.											.	.	.	.	2	Unknown(2)	lung(2)	c.457+2T>C						PASS	.	A	,	5,4401	9.9+/-24.2	0,5,2198	132	111	118		,	4.2	0.8	18	dbSNP_134	118	31,8569	21.6+/-65.8	0,31,4269	yes	splice-5,splice-5	C18orf34	NM_001105528.1,NM_198995.2	,	0,36,6467	GG,GA,AA		0.3605,0.1135,0.2768	,	,	30928852	36,12970	2203	4300	6503	SO:0001630	splice_region_variant	374864	exon8			AACTTTACCTCTC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.457+1T>C	18.37:g.30928852A>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37	CCDS42424.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	A	12.87	2.068210	0.36470	0.001135	0.003605	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0289	0.42087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29182850	0.994000	0.37717	0.791000	0.31998	0.061000	0.15899	3.552000	0.53705	2.144000	0.66660	0.533000	0.62120	.	A|0.997;G|0.003	0.003	strong		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	Intron	G	30928852	A	G	30928852	5	3	23	1	0	0	0	0	0	0	1	0	1902	405	14	2	2208	2	C18orf34	18	30928852	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1140745	30928852	47148396	4074	20530										
ELP2	55250	hgsc.bcm.edu	37	chr18	33718326	33718326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcagatcctgcattatgtAcactgatcgtttctgcagct	7	11	2	2	rs1785934	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:33718326A>C	ENST00000358232.6	+	4	445	c.382A>C	c.(382-384)Aca>Cca	p.T128P	ELP2_ENST00000351393.6_Missense_Mutation_p.T128P|ELP2_ENST00000350494.6_Missense_Mutation_p.T128P|ELP2_ENST00000542824.1_Missense_Mutation_p.T128P|ELP2_ENST00000442325.2_Missense_Mutation_p.T128P|ELP2_ENST00000423854.2_Missense_Mutation_p.T128P	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	128			T -> P (in dbSNP:rs1785934). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCATTATGTACACTGATCGT	0.443													A|||	1605	0.320487	0.382	0.3847	5008	,	,		9758	0.2024		0.3797	False		,,,				2504	0.2526				p.T128P		Atlas-SNP	.											.	ELP2	70	.	0			c.A382C						PASS	.	A	PRO/THR,PRO/THR,PRO/THR,PRO/THR,PRO/THR,PRO/THR	1614,2792	501.0+/-364.9	296,1022,885	124	112	116		382,382,382,382,382,382	3.5	0.4	18	dbSNP_89	116	3193,5407	483.3+/-371.1	584,2025,1691	yes	missense,missense,missense,missense,missense,missense	ELP2	NM_001242875.1,NM_001242876.1,NM_001242877.1,NM_001242878.1,NM_001242879.1,NM_018255.2	38,38,38,38,38,38	880,3047,2576	CC,CA,AA		37.1279,36.6319,36.9599	benign,benign,benign,benign,benign,benign	128/892,128/822,128/801,128/757,128/757,128/827	33718326	4807,8199	2203	4300	6503	SO:0001583	missense	55250	exon4			TTATGTACACTGA	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.382A>C	18.37:g.33718326A>C	ENSP00000350967:p.Thr128Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	136	73	0.536765	NM_001242879	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	758	0.34706959706959706	192	0.3902439024390244	154	0.425414364640884	111	0.19405594405594406	301	0.3970976253298153	A	7.649	0.682530	0.14907	0.366319	0.371279	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.58506	0.33;2.17;0.33;0.33;0.33;0.33	5.75	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.377451	0.28641	N	0.014625	T	0.00012	0.0000	L	0.33093	0.98	0.51233	P	9.00000000000345E-5	B;B;B;B;B;B	0.14805	0.001;0.002;0.011;0.0;0.0;0.0	B;B;B;B;B;B	0.17979	0.012;0.02;0.015;0.0;0.0;0.001	T	0.41770	-0.9490	9	0.30078	T	0.28	-6.6852	4.8583	0.13570	0.6414:0.2526:0.106:0.0	rs1785934;rs3819176;rs17648862;rs17856949;rs52804008;rs1785934	128;128;128;128;128;128	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	P	128	ENSP00000350967:T128P;ENSP00000257191:T128P;ENSP00000414851:T128P;ENSP00000391202:T128P;ENSP00000316051:T128P;ENSP00000443800:T128P	ENSP00000316051:T128P	T	+	1	0	ELP2	31972324	0.010000	0.17322	0.424000	0.26647	0.026000	0.11368	0.654000	0.24918	1.017000	0.39495	0.455000	0.32223	ACA	A|0.654;C|0.346	0.346	strong		0.443	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		C	33718326	A	C	33718326	3	2	23	1	0	0	0	0	1	0	0	0	5080	391	14	5	396	5	ELP2	18	33718326	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2789474	33718326	44358922	4075	20531										
ELP2	55250	hgsc.bcm.edu	37	chr18	33725931	33725931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggtgtcctacagcagccaGtgagattattatctgcttcc	9	10	1	1	rs1785928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:33725931G>A	ENST00000358232.6	+	10	976	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	ELP2_ENST00000351393.6_Missense_Mutation_p.V279M|ELP2_ENST00000350494.6_Missense_Mutation_p.V344M|ELP2_ENST00000542824.1_Missense_Mutation_p.V279M|ELP2_ENST00000442325.2_Missense_Mutation_p.V370M|ELP2_ENST00000423854.2_Missense_Mutation_p.V235M	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	305			V -> M (in dbSNP:rs1785928). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACAGCAGCCAGTGAGATTATT	0.368													A|||	1611	0.321685	0.3865	0.3847	5008	,	,		18633	0.2014		0.3797	False		,,,				2504	0.2536				p.V370M		Atlas-SNP	.											ELP2,colon,carcinoma,0,1	ELP2	70	1	0			c.G1108A						PASS	.	A	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1626,2780	657.6+/-400.3	300,1026,877	163	177	172		1108,1030,835,835,703,913	-1.7	1	18	dbSNP_89	172	3192,5408	652.7+/-401.0	583,2026,1691	no	missense,missense,missense,missense,missense,missense	ELP2	NM_001242875.1,NM_001242876.1,NM_001242877.1,NM_001242878.1,NM_001242879.1,NM_018255.2	21,21,21,21,21,21	883,3052,2568	AA,AG,GG		37.1163,36.9042,37.0444	benign,benign,benign,benign,benign,benign	370/892,344/822,279/801,279/757,235/757,305/827	33725931	4818,8188	2203	4300	6503	SO:0001583	missense	55250	exon11			CAGCCAGTGAGAT	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.913G>A	18.37:g.33725931G>A	ENSP00000350967:p.Val305Met	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	235	107	0.455319	NM_001242875	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	759	0.3475274725274725	193	0.39227642276422764	154	0.425414364640884	111	0.19405594405594406	301	0.3970976253298153	A	3.309	-0.141116	0.06669	0.369042	0.371163	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.37	-1.7	0.08159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.259165	0.46145	N	0.000307	T	0.00012	0.0000	N	0.02247	-0.625	0.48571	P	3.300000000000525E-4	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.004;0.004;0.001;0.001;0.001;0.001	T	0.46582	-0.9181	9	0.42905	T	0.14	-4.6675	7.0425	0.25029	0.4848:0.1249:0.3903:0.0	rs1785928;rs17846001;rs17858985;rs56552971;rs60807235;rs1785928	344;370;235;279;279;305	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	M	305;279;370;235;344;279	ENSP00000350967:V305M;ENSP00000257191:V279M;ENSP00000414851:V370M;ENSP00000391202:V235M;ENSP00000316051:V344M;ENSP00000443800:V279M	ENSP00000316051:V344M	V	+	1	0	ELP2	31979929	0.979000	0.34478	0.997000	0.53966	0.868000	0.49771	0.248000	0.18198	-0.180000	0.10637	-0.893000	0.02921	GTG	G|0.656;A|0.344	0.344	strong		0.368	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		A	33725931	G	A	33725931	3	1	23	1	0	0	0	0	1	0	0	0	5080	1029	36	2	951	2	ELP2	18	33725931	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7605	33725931	44351317	4076	20532										
MOCOS	55034	hgsc.bcm.edu	37	chr18	33848581	33848581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggatctcaggtgctccctgTgttgaaagagaatgtggaag	14	6	1	2	rs1057251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:33848581T>C	ENST00000261326.5	+	15	2621	c.2600T>C	c.(2599-2601)gTg>gCg	p.V867A		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTGCTCCCTGTGTTGAAAGAG	0.403													T|||	363	0.072484	0.0378	0.1758	5008	,	,		17797	0.0704		0.0775	False		,,,				2504	0.0429				p.V867A		Atlas-SNP	.											.	MOCOS	84	.	0			c.T2600C						PASS	.	T	ALA/VAL	201,4205	127.0+/-164.0	5,191,2007	238	205	216		2600	5.7	0.9	18	dbSNP_86	216	1000,7600	215.6+/-254.9	50,900,3350	yes	missense	MOCOS	NM_017947.2	64	55,1091,5357	CC,CT,TT		11.6279,4.562,9.2342	benign	867/889	33848581	1201,11805	2203	4300	6503	SO:0001583	missense	55034	exon15			TCCCTGTGTTGAA	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2600T>C	18.37:g.33848581T>C	ENSP00000261326:p.Val867Ala	Somatic	222	1	0.0045045		WXS	Illumina HiSeq	Phase_I	225	102	0.453333	NM_017947		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	174	0.07967032967032966	17	0.034552845528455285	61	0.1685082872928177	40	0.06993006993006994	56	0.07387862796833773	T	15.18	2.755988	0.49362	0.04562	0.116279	ENSG00000075643	ENST00000261326	T	0.15603	2.41	5.74	5.74	0.90152	Molybdenum cofactor sulfurase, C-terminal (1);	0.436137	0.23116	N	0.051751	T	0.00039	0.0001	M	0.71581	2.175	0.39071	P	0.03928100000000001	P	0.44429	0.835	B	0.32342	0.144	T	0.18023	-1.0350	9	0.62326	D	0.03	-8.0317	12.7596	0.57356	0.0:0.0:0.0:1.0	rs1057251;rs3197888;rs52803362;rs57783980;rs1057251	867	Q96EN8	MOCOS_HUMAN	A	867	ENSP00000261326:V867A	ENSP00000261326:V867A	V	+	2	0	MOCOS	32102579	1.000000	0.71417	0.904000	0.35570	0.642000	0.38348	4.257000	0.58816	2.323000	0.78572	0.529000	0.55759	GTG	T|0.921;C|0.079	0.079	strong		0.403	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			C	33848581	T	C	33848581	3	2	23	1	0	0	0	0	1	0	0	0	9689	1696	59	2	2658	2	MOCOS	18	33848581	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	122650	33848581	44228667	4077	20533										
PIK3C3	5289	hgsc.bcm.edu	37	chr18	39623783	39623783	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttacgttaaaagctgtggTaagtttttcaggctattact	8	6	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:39623783T>C	ENST00000262039.4	+	20	2274		c.e20+2		PIK3C3_ENST00000589056.1_Splice_Site|PIK3C3_ENST00000593098.1_Splice_Site|PIK3C3_ENST00000587402.1_Splice_Site|PIK3C3_ENST00000398870.3_Splice_Site	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3						autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAGCTGTGGTAAGTTTTTCA	0.343										TSP Lung(28;0.18)																											.	NSCLC(37;552 1060 2683 16430 37914)	Atlas-SNP	.											PIK3C3,NS,carcinoma,+2,1	PIK3C3	138	1	0			c.2188+2T>C						scavenged	.						153	135	141					18																	39623783		2203	4300	6503	SO:0001630	splice_region_variant	5289	exon20			CTGTGGTAAGTTT	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2188+2T>C	18.37:g.39623783T>C		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	119	3	0.0252101	NM_002647	Q15134	Splice_Site	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511025	0.85389	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4058	0.74877	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3C3	37877781	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.552000	0.82192	2.105000	0.64084	0.528000	0.53228	.	.	.	none		0.343	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	Intron	C	39623783	T	C	39623783	5	2	23	1	0	0	0	0	0	0	1	0	11912	1652	57	2	2268	2	PIK3C3	18	39623783	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5775202	39623783	38453465	4078	20534										
SLC14A2	8170	hgsc.bcm.edu	37	chr18	43246156	43246156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaagacccatttccctatcGataccggaagcccacagtcg	7	15	0	1	rs9960464	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:43246156G>A	ENST00000255226.6	+	12	2345	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	SLC14A2_ENST00000589658.1_5'UTR|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R510Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	510			R -> Q (in dbSNP:rs9960464). {ECO:0000269|PubMed:11502588, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.R510Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCCCTATCGATACCGGAAG	0.512											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1870	0.373403	0.2867	0.4712	5008	,	,		17597	0.3423		0.4314	False		,,,				2504	0.3937				p.R510Q		Atlas-SNP	.											SLC14A2,NS,carcinoma,0,1	SLC14A2	121	1	1	Substitution - Missense(1)	stomach(1)	c.G1529A						PASS	.	G	GLN/ARG,GLN/ARG	1446,2960	469.2+/-355.4	225,996,982	160	126	138		1529,1529	-11.7	0	18	dbSNP_119	138	3848,4752	541.7+/-384.0	826,2196,1278	yes	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	43,43	1051,3192,2260	AA,AG,GG		44.7442,32.8189,40.7043	benign,benign	510/921,510/921	43246156	5294,7712	2203	4300	6503	SO:0001583	missense	8170	exon13			CCTATCGATACCG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1529G>A	18.37:g.43246156G>A	ENSP00000255226:p.Arg510Gln	Somatic	135	0	0	914	WXS	Illumina HiSeq	Phase_I	106	59	0.556604	NM_001242692	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	839	0.3841575091575092	138	0.2804878048780488	175	0.48342541436464087	192	0.3356643356643357	334	0.44063324538258575	g	7.576	0.667826	0.14710	0.328189	0.447442	ENSG00000132874	ENST00000255226	T	0.32515	1.45	6.04	-11.7	0.00046	.	1.340750	0.04528	N	0.385873	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	9	0.13108	T	0.6	3.2061	6.7344	0.23401	0.1347:0.579:0.0671:0.2192	rs9960464;rs52828182;rs59892831;rs9960464	510	Q15849	UT2_HUMAN	Q	510	ENSP00000255226:R510Q	ENSP00000255226:R510Q	R	+	2	0	SLC14A2	41500154	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.763000	0.04740	-1.612000	0.01579	-0.405000	0.06341	CGA	G|0.615;A|0.385	0.385	strong		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43246156	G	A	43246156	3	1	23	1	0	0	0	0	1	0	0	0	14397	1058	37	1	1571	1	SLC14A2	18	43246156	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3622373	43246156	34831092	4079	20535										
SIGLEC15	284266	hgsc.bcm.edu	37	chr18	43422149	43422149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagccaccatgtgctcaccGtgaggagtccctcagccacc	9	18	2	1	rs143689799	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:43422149G>A	ENST00000389474.3	+	6	1201	c.984G>A	c.(982-984)ccG>ccA	p.P328P	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Silent_p.P174P	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	328					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGTGCTCACCGTGAGGAGTCC	0.562													G|||	8	0.00159744	0.0015	0.0	5008	,	,		18230	0.0		0.006	False		,,,				2504	0.0				p.P328P		Atlas-SNP	.											.	SIGLEC15	10	.	0			c.G984A						PASS	.	G		2,4404	4.2+/-10.8	0,2,2201	73	69	70		984	-8.6	0	18	dbSNP_134	70	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous	SIGLEC15	NM_213602.2		0,29,6474	AA,AG,GG		0.314,0.0454,0.223		328/329	43422149	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	284266	exon6			CTCACCGTGAGGA	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.984G>A	18.37:g.43422149G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	115	61	0.530435	NM_213602	A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	CCDS32819.1																																																																																			G|0.997;A|0.003	0.003	strong		0.562	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		A	43422149	G	A	43422149	2	1	23	1	0	0	0	0	0	0	0	1	14310	1132	40	1		1	SIGLEC15	18	43422149	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	175993	43422149	34655099	4080	20536										
KIAA1632	57724	hgsc.bcm.edu	37	chr18	43496539	43496539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaggaacaagaggagatgcGataaaaacctgccaagcaca	11	8	0	2	rs78339727	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:43496539G>A	ENST00000282041.5	-	18	3282	c.3248C>T	c.(3247-3249)tCg>tTg	p.S1083L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1083					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGGAGATGCGATAAAAACCT	0.488													G|||	75	0.014976	0.0045	0.0072	5008	,	,		19660	0.002		0.0268	False		,,,				2504	0.0358				p.S1083L		Atlas-SNP	.											.	EPG5	199	.	0			c.C3248T						PASS	.	G	LEU/SER	27,4031		0,27,2002	53	55	55		3248	5.8	1	18	dbSNP_131	55	231,8135		2,227,3954	yes	missense	EPG5	NM_020964.2	145	2,254,5956	AA,AG,GG		2.7612,0.6654,2.0766	probably-damaging	1083/2580	43496539	258,12166	2029	4183	6212	SO:0001583	missense	57724	exon18			AGATGCGATAAAA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3248C>T	18.37:g.43496539G>A	ENSP00000282041:p.Ser1083Leu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	53	28	0.528302	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	27	0.012362637362637362	3	0.006097560975609756	2	0.0055248618784530384	1	0.0017482517482517483	21	0.027704485488126648	G	18.92	3.726301	0.69074	0.006654	0.027612	ENSG00000152223	ENST00000282041	T	0.12361	2.69	5.78	5.78	0.91487	.	1.225840	0.05281	N	0.519454	T	0.13415	0.0325	L	0.59436	1.845	0.46458	D	0.99905	D;D	0.69078	0.997;0.997	P;P	0.55222	0.771;0.704	T	0.00329	-1.1813	10	0.62326	D	0.03	-6.3143	15.4766	0.75485	0.0:0.138:0.862:0.0	.	1083;1083	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	1083	ENSP00000282041:S1083L	ENSP00000282041:S1083L	S	-	2	0	EPG5	41750537	1.000000	0.71417	0.964000	0.40570	0.470000	0.32858	3.769000	0.55303	2.737000	0.93849	0.563000	0.77884	TCG	G|0.979;A|0.021	0.021	strong		0.488	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43496539	G	A	43496539	3	1	23	1	0	0	0	0	1	0	0	0	8249	1059	37	1	4599	1	KIAA1632	18	43496539	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	74390	43496539	34580709	4081	20537										
KIAA1632	57724	hgsc.bcm.edu	37	chr18	43508856	43508856	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attccaacctggtcaatggtCtcttgaactctatccagaag	7	11	3	2	rs3744999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:43508856C>G	ENST00000282041.5	-	13	2566	c.2532G>C	c.(2530-2532)gaG>gaC	p.E844D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	844			E -> D (in dbSNP:rs3744999).		autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E844D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTCAATGGTCTCTTGAACTC	0.398													C|||	361	0.0720847	0.0741	0.0245	5008	,	,		19859	0.0774		0.0378	False		,,,				2504	0.1329				p.E844D		Atlas-SNP	.											EPG5,NS,carcinoma,0,1	EPG5	199	1	1	Substitution - Missense(1)	stomach(1)	c.G2532C						PASS	.	C	ASP/GLU	264,3434		12,240,1597	107	99	102		2532	-2.8	1	18	dbSNP_107	102	280,7922		2,276,3823	yes	missense	EPG5	NM_020964.2	45	14,516,5420	GG,GC,CC		3.4138,7.139,4.5714	benign	844/2580	43508856	544,11356	1849	4101	5950	SO:0001583	missense	57724	exon13			AATGGTCTCTTGA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2532G>C	18.37:g.43508856C>G	ENSP00000282041:p.Glu844Asp	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	19	0.487179	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	129	0.059065934065934064	38	0.07723577235772358	8	0.022099447513812154	54	0.0944055944055944	29	0.03825857519788918	C	5.230	0.227927	0.09916	0.07139	0.034138	ENSG00000152223	ENST00000282041	T	0.09723	2.95	6.17	-2.81	0.05805	.	0.891536	0.09963	N	0.733186	T	0.00178	0.0005	N	0.14661	0.345	0.29489	N	0.855755	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.45264	-0.9273	10	0.09590	T	0.72	-6.0562	0.5909	0.00728	0.2525:0.1862:0.3063:0.2551	rs3744999;rs52796425;rs3744999	844;844	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	844	ENSP00000282041:E844D	ENSP00000282041:E844D	E	-	3	2	EPG5	41762854	0.002000	0.14202	0.954000	0.39281	0.996000	0.88848	-1.468000	0.02350	-0.550000	0.06183	-0.137000	0.14449	GAG	C|0.927;G|0.073	0.073	strong		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		G	43508856	C	G	43508856	3	3	23	1	0	0	0	0	1	0	0	0	8249	912	32	4	5335	4	KIAA1632	18	43508856	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12317	43508856	34568392	4082	20538										
TCEB3B	51224	hgsc.bcm.edu	37	chr18	44560337	44560337	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctctgactggctttcctgGacaggaggcaatttcttagc	10	11	2	1	rs3744864	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:44560337G>T	ENST00000332567.4	-	1	1651	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	433					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCTTTCCTGGACAGGAGGCA	0.567													G|||	26	0.00519169	0.0	0.0159	5008	,	,		17739	0.001		0.0139	False		,,,				2504	0.0				p.V433V		Atlas-SNP	.											TCEB3B,NS,carcinoma,-1,1	TCEB3B	141	1	0			c.C1299A						PASS	.	G	,	11,4393	16.8+/-37.8	0,11,2191	81	78	79		1299,	1	0	18	dbSNP_107	79	97,8503	53.6+/-114.3	0,97,4203	no	coding-synonymous,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	,	0,108,6394	TT,TG,GG		1.1279,0.2498,0.8305	,	433/754,	44560337	108,12896	2202	4300	6502	SO:0001819	synonymous_variant	51224	exon1			TTCCTGGACAGGA	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1299C>A	18.37:g.44560337G>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	122	53	0.434426	NM_016427	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																			G|0.992;T|0.008	0.008	strong		0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44560337	G	T	44560337	2	4	23	1	0	0	0	0	0	0	0	1	15679	1161	41	4		4	TCEB3B	18	44560337	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1051481	44560337	33516911	4083	20539										
KIAA0427	9811	hgsc.bcm.edu	37	chr18	46343666	46343666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcttcatcaccttcctgtgCgaggtcttcggcaccatgcg	11	14	3	0	rs3764481	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:46343666C>T	ENST00000256413.3	+	10	1741	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	CTIF_ENST00000382998.4_Silent_p.C484C	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	482	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCTTCCTGTGCGAGGTCTTCG	0.642													c|||	677	0.135184	0.09	0.0951	5008	,	,		20270	0.2302		0.1173	False		,,,				2504	0.1452				p.C484C		Atlas-SNP	.											.	CTIF	102	.	0			c.C1452T						PASS	.		,	415,3991	205.2+/-227.1	8,399,1796	96	69	78		1452,1446	-4.2	0.9	18	dbSNP_107	78	975,7625	210.3+/-251.2	59,857,3384	no	coding-synonymous,coding-synonymous	CTIF	NM_001142397.1,NM_014772.2	,	67,1256,5180	TT,TC,CC		11.3372,9.419,10.6874	,	484/601,482/599	46343666	1390,11616	2203	4300	6503	SO:0001819	synonymous_variant	9811	exon11			CCTGTGCGAGGTC	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1446C>T	18.37:g.46343666C>T		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	156	83	0.532051	NM_001142397	B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	CCDS11935.1																																																																																			C|0.881;T|0.119	0.119	strong		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		T	46343666	C	T	46343666	2	4	23	1	0	0	0	0	0	0	0	1	8176	776	27	1		1	KIAA0427	18	46343666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1783329	46343666	31733582	4084	20540										
LIPG	9388	hgsc.bcm.edu	37	chr18	47093864	47093864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcgtgtcagccctgcacaCaagagagaaagacgccaatg	10	12	1	3	rs2000813	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:47093864C>T	ENST00000261292.4	+	3	610	c.332C>T	c.(331-333)aCa>aTa	p.T111I	LIPG_ENST00000577628.1_Missense_Mutation_p.T147I|LIPG_ENST00000580036.1_Missense_Mutation_p.T111I|LIPG_ENST00000427224.2_Missense_Mutation_p.T111I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	111			T -> I (in dbSNP:rs2000813). {ECO:0000269|PubMed:12966036}.		cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCCTGCACACAAGAGAGAAA	0.493													C|||	1205	0.240615	0.0673	0.2277	5008	,	,		16337	0.3274		0.3022	False		,,,				2504	0.3313				p.T111I	Pancreas(126;280 1778 12814 26243 34948)	Atlas-SNP	.											.	LIPG	47	.	0			c.C332T	GRCh37	CM077882	LIPG	M	rs2000813	PASS	.	C	ILE/THR	473,3933	225.2+/-241.2	20,433,1750	88	75	79		332	-3.7	0.2	18	dbSNP_92	79	2506,6094	410.5+/-350.2	364,1778,2158	yes	missense	LIPG	NM_006033.2	89	384,2211,3908	TT,TC,CC		29.1395,10.7354,22.9048	benign	111/501	47093864	2979,10027	2203	4300	6503	SO:0001583	missense	9388	exon3			TGCACACAAGAGA	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.332C>T	18.37:g.47093864C>T	ENSP00000261292:p.Thr111Ile	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	111	56	0.504505	NM_006033	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	CCDS11938.1	532	0.24358974358974358	29	0.05894308943089431	101	0.27900552486187846	182	0.3181818181818182	220	0.29023746701846964	C	10.03	1.238711	0.22711	0.107354	0.291395	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90444	-2.67;-2.67	5.13	-3.65	0.04502	Lipase, N-terminal (1);	0.762883	0.13306	N	0.397833	T	0.00012	0.0000	N	0.12853	0.265	0.80722	P	0.0	B;B;B	0.12013	0.005;0.003;0.002	B;B;B	0.11329	0.006;0.006;0.004	T	0.07539	-1.0767	9	0.49607	T	0.09	-23.8984	5.0178	0.14345	0.372:0.2221:0.0:0.4059	rs2000813;rs3786250;rs52802490;rs56604138;rs58046713;rs2000813	111;111;111	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	I	111	ENSP00000261292:T111I;ENSP00000387978:T111I	ENSP00000261292:T111I	T	+	2	0	LIPG	45347862	0.013000	0.17824	0.170000	0.22879	0.332000	0.28634	0.406000	0.21032	-0.342000	0.08363	0.561000	0.74099	ACA	C|0.760;T|0.240	0.240	strong		0.493	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		T	47093864	C	T	47093864	3	4	23	1	0	0	0	0	1	0	0	0	8823	478	17	2	342	2	LIPG	18	47093864	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	750198	47093864	30983384	4085	20541										
ACAA2	10449	hgsc.bcm.edu	37	chr18	47318626	47318626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatgctcgtctacctgcaTtgtctgttttcctttctttg	7	11	3	0	rs11549285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:47318626T>C	ENST00000285093.10	-	6	1124	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	ACAA2_ENST00000589432.1_Missense_Mutation_p.M162V|ACAA2_ENST00000587994.1_Missense_Mutation_p.M214V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	217			M -> V (in dbSNP:rs11549285).		cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						TCTACCTGCATTGTCTGTTTT	0.423													T|||	300	0.0599042	0.0015	0.0375	5008	,	,		16355	0.1885		0.0268	False		,,,				2504	0.0562				p.M217V		Atlas-SNP	.											.	ACAA2	29	.	0			c.A649G						PASS	.	T	VAL/MET	13,4393	17.9+/-39.9	0,13,2190	172	144	153		649	1.8	0.7	18	dbSNP_120	153	191,8409	84.5+/-147.0	6,179,4115	yes	missense	ACAA2	NM_006111.2	21	6,192,6305	CC,CT,TT		2.2209,0.2951,1.5685	benign	217/398	47318626	204,12802	2203	4300	6503	SO:0001583	missense	10449	exon6			CCTGCATTGTCTG	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.649A>G	18.37:g.47318626T>C	ENSP00000285093:p.Met217Val	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	168	87	0.517857	NM_006111	Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	CCDS11939.1	126	0.057692307692307696	2	0.0040650406504065045	14	0.03867403314917127	91	0.1590909090909091	19	0.025065963060686015	T	2.008	-0.427751	0.04701	0.002951	0.022209	ENSG00000167315	ENST00000285093	D	0.87334	-2.24	5.49	1.75	0.24633	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.104157	0.85682	N	0.000000	T	0.00440	0.0014	N	0.01464	-0.85	0.20074	P	0.999936946	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.05550	-1.0878	9	0.15499	T	0.54	-15.6312	9.3216	0.37968	0.0:0.2745:0.0:0.7255	rs11549285;rs52835379;rs11549285	217;217	B2RB23;P42765	.;THIM_HUMAN	V	217	ENSP00000285093:M217V	ENSP00000285093:M217V	M	-	1	0	ACAA2	45572624	0.963000	0.33076	0.699000	0.30290	0.306000	0.27790	1.674000	0.37544	0.063000	0.16370	-0.269000	0.10298	ATG	T|0.970;C|0.030	0.030	strong		0.423	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		C	47318626	T	C	47318626	3	2	23	1	0	0	0	0	1	0	0	0	105	1493	52	2	564	2	ACAA2	18	47318626	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	224762	47318626	30758622	4086	20542										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47363963	47363963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagagtcactgcgttgatcaTgtagaagagctgtttgaata	11	5	2	5	rs112417235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:47363963T>C	ENST00000285039.7	-	37	5361	c.5062A>G	c.(5062-5064)Atg>Gtg	p.M1688V	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.M803V|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.M11V|MYO5B_ENST00000592688.1_Missense_Mutation_p.M258V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1688	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		M -> V. {ECO:0000269|PubMed:21206382}.		endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCGTTGATCATGTAGAAGAGC	0.517													T|||	82	0.0163738	0.0015	0.0288	5008	,	,		23453	0.0		0.0358	False		,,,				2504	0.0245				p.M1688V		Atlas-SNP	.											.	MYO5B	178	.	0			c.A5062G						PASS	.	T	VAL/MET	24,4024		0,24,2000	65	62	63		5062	2.4	1	18	dbSNP_132	63	256,8102		2,252,3925	no	missense	MYO5B	NM_001080467.2	21	2,276,5925	CC,CT,TT		3.0629,0.5929,2.257	benign	1688/1849	47363963	280,12126	2024	4179	6203	SO:0001583	missense	4645	exon37			TGATCATGTAGAA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5062A>G	18.37:g.47363963T>C	ENSP00000285039:p.Met1688Val	Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	334	109	0.326347	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	34	0.015567765567765568	0	0.0	11	0.03038674033149171	0	0.0	23	0.030343007915567283	T	11.24	1.579427	0.28180	0.005929	0.030629	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.85629	-2.01;2.61	4.77	2.37	0.29283	Dilute (1);Dil domain (1);	0.264499	0.42172	N	0.000759	T	0.48484	0.1502	N	0.05230	-0.09	0.29582	N	0.849093	B;P	0.45283	0.001;0.855	B;P	0.44647	0.004;0.456	T	0.63292	-0.6670	10	0.54805	T	0.06	.	8.8779	0.35356	0.0:0.156:0.0:0.844	.	1688;803	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	V	1688;803	ENSP00000285039:M1688V;ENSP00000315531:M803V	ENSP00000285039:M1688V	M	-	1	0	MYO5B	45617961	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.620000	0.36976	0.412000	0.25729	-0.353000	0.07706	ATG	T|0.979;C|0.021	0.021	strong		0.517	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			C	47363963	T	C	47363963	3	2	23	1	0	0	0	0	1	0	0	0	10079	1464	51	2	500	2	MYO5B	18	47363963	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	45337	47363963	30713285	4087	20543										
CCDC11	220136	hgsc.bcm.edu	37	chr18	47788544	47788544	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgatggctgcgtcggattcTttctagatggtgctcagctc	12	10	3	2	rs112087763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:47788544T>G	ENST00000398545.4	-	2	232	c.115A>C	c.(115-117)Aga>Cga	p.R39R		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CGTCGGATTCTTTCTAGATGG	0.438													T|||	6	0.00119808	0.0	0.0014	5008	,	,		19087	0.0		0.004	False		,,,				2504	0.001				p.R39R		Atlas-SNP	.											.	CCDC11	59	.	0			c.A115C						PASS	.	T		1,3831		0,1,1915	113	108	109		115	4	0.2	18	dbSNP_132	109	24,8220		0,24,4098	no	coding-synonymous	CCDC11	NM_145020.3		0,25,6013	GG,GT,TT		0.2911,0.0261,0.207		39/515	47788544	25,12051	1916	4122	6038	SO:0001819	synonymous_variant	220136	exon2			GGATTCTTTCTAG																												ENST00000398545.4:c.115A>C	18.37:g.47788544T>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	121	53	0.438017	NM_145020		Silent	SNP	ENST00000398545.4	37	CCDS11940.2																																																																																			T|0.997;G|0.003	0.003	strong		0.438	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			G	47788544	T	G	47788544	2	3	23	1	0	0	0	0	0	0	0	1	2746	1617	56	5		5	CCDC11	18	47788544	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	424581	47788544	30288704	4088	20544										
CXXC1	30827	hgsc.bcm.edu	37	chr18	47810351	47810351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgttccatttcctgaaggcgAgtgcgggcactctgctgctc	12	13	1	1	rs7228084	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:47810351A>G	ENST00000285106.6	-	10	2040	c.1326T>C	c.(1324-1326)acT>acC	p.T442T	MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000412036.2_Silent_p.T446T|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000589940.1_Silent_p.T442T|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000349085.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTGAAGGCGAGTGCGGGCAC	0.602													A|||	3578	0.714457	0.5953	0.7709	5008	,	,		21331	0.7907		0.7396	False		,,,				2504	0.7311				p.T446T		Atlas-SNP	.											.	CXXC1	50	.	0			c.T1338C						PASS	.	A	,	2734,1672	655.2+/-399.9	847,1040,316	107	97	100		1338,1326	-5.3	1	18	dbSNP_116	100	6192,2408	698.7+/-405.0	2230,1732,338	no	coding-synonymous,coding-synonymous	CXXC1	NM_001101654.1,NM_014593.3	,	3077,2772,654	GG,GA,AA		28.0,37.9483,31.3701	,	446/661,442/657	47810351	8926,4080	2203	4300	6503	SO:0001819	synonymous_variant	30827	exon10			AAGGCGAGTGCGG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1326T>C	18.37:g.47810351A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	79	40	0.506329	NM_001101654	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																			A|0.305;G|0.695	0.695	strong		0.602	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		G	47810351	A	G	47810351	2	3	23	1	0	0	0	0	0	0	0	1	4097	291	11	3		3	CXXC1	18	47810351	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	21807	47810351	30266897	4089	20545										
ST8SIA3	51046	hgsc.bcm.edu	37	chr18	55021725	55021725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagaaaccttctaagtggaAatttaatcggacagcgtttt	9	6	1	1	rs3745060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:55021725A>C	ENST00000324000.3	+	2	2306	c.272A>C	c.(271-273)aAa>aCa	p.K91T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	91			K -> T (in dbSNP:rs3745060).		cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCTAAGTGGAAATTTAATCGG	0.403													C|||	1846	0.36861	0.5204	0.3199	5008	,	,		18792	0.495		0.159	False		,,,				2504	0.2832				p.K91T		Atlas-SNP	.											.	ST8SIA3	73	.	0			c.A272C						PASS	.	C	THR/LYS	1999,2407	616.4+/-392.8	455,1089,659	110	109	109		272	2	1	18	dbSNP_107	109	1365,7235	755.4+/-407.5	100,1165,3035	yes	missense	ST8SIA3	NM_015879.2	78	555,2254,3694	CC,CA,AA		15.8721,45.37,25.865	benign	91/381	55021725	3364,9642	2203	4300	6503	SO:0001583	missense	51046	exon2			AGTGGAAATTTAA	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.272A>C	18.37:g.55021725A>C	ENSP00000320431:p.Lys91Thr	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	87	49	0.563218	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	763	0.34935897435897434	240	0.4878048780487805	102	0.281767955801105	306	0.534965034965035	115	0.1517150395778364	C	2.834	-0.241904	0.05906	0.4537	0.158721	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.39997	1.05	4.88	2.02	0.26589	.	0.387780	0.31495	N	0.007546	T	0.00012	0.0000	N	0.14661	0.345	0.49798	P	1.7400000000000748E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	9	0.08837	T	0.75	-6.3465	2.5347	0.04711	0.2854:0.336:0.2786:0.1	rs3745060;rs52812069;rs56693866;rs3745060	91	O43173	SIA8C_HUMAN	T	198;91	ENSP00000320431:K91T	ENSP00000320431:K91T	K	+	2	0	ST8SIA3	53172723	0.043000	0.20138	0.987000	0.45799	0.979000	0.70002	-0.004000	0.12878	-0.039000	0.13602	-0.352000	0.07741	AAA	A|0.692;C|0.308	0.308	strong		0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		C	55021725	A	C	55021725	3	2	23	1	0	0	0	0	1	0	0	0	15232	14	1	5	278	5	ST8SIA3	18	55021725	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7211374	55021725	23055523	4090	20546										
FECH	2235	hgsc.bcm.edu	37	chr18	55247313	55247313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttagactcatacctcttctgCggttgaacttgaggttttgc	9	9	3	3	rs550820935		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:55247313C>T	ENST00000262093.5	-	2	337	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FECH_ENST00000382873.3_Silent_p.P62P|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	62			P -> R (in EPP). {ECO:0000269|PubMed:12063482}.		cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ACCTCTTCTGCGGTTGAACTT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.001				p.P62P		Atlas-SNP	.											FECH,right_lower_lobe,carcinoma,0,2	FECH	42	2	0			c.G186A						scavenged	.						160	145	150					18																	55247313		2203	4300	6503	SO:0001819	synonymous_variant	2235	exon2			CTTCTGCGGTTGA	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.186G>A	18.37:g.55247313C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	192	4	0.0208333	NM_001012515	A8KA72|Q8IXN1|Q8NAN0	Silent	SNP	ENST00000262093.5	37	CCDS11964.1																																																																																			.	.	none		0.522	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			T	55247313	C	T	55247313	2	4	23	1	0	0	0	0	0	0	0	1	5808	755	27	1		1	FECH	18	55247313	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	225588	55247313	22829935	4091	20547										
MALT1	10892	hgsc.bcm.edu	37	chr18	56367823	56367823	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatcccagagagcttccagAgtaagtaacgaaagaagctg	10	9	0	3	rs74847855	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:56367823A>G	ENST00000348428.3	+	4	907	c.649A>G	c.(649-651)Aga>Gga	p.R217G	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Splice_Site_p.R217G	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	217	Ig-like C2-type 2.	Breakpoint for translocation to form BIRC2-MALT1.			activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GAGCTTCCAGAGTAAGTAACG	0.358			T	BIRC3	MALT								A|||	101	0.0201677	0.0038	0.0086	5008	,	,		16547	0.0		0.0318	False		,,,				2504	0.0593				p.R217G		Atlas-SNP	.		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	MALT1	55	.	0			c.A649G						PASS	.	A	GLY/ARG,GLY/ARG	37,4369	35.2+/-66.4	0,37,2166	60	54	56		649,649	-0.3	0.2	18	dbSNP_131	56	348,8252	113.1+/-173.2	12,324,3964	yes	missense-near-splice,missense-near-splice	MALT1	NM_006785.2,NM_173844.1	125,125	12,361,6130	GG,GA,AA		4.0465,0.8398,2.9602	benign,benign	217/825,217/814	56367823	385,12621	2203	4300	6503	SO:0001630	splice_region_variant	10892	exon4			TTCCAGAGTAAGT		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.649+1A>G	18.37:g.56367823A>G		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	22	0.536585	NM_173844	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	31	0.014194139194139194	5	0.01016260162601626	4	0.011049723756906077	0	0.0	22	0.029023746701846966	A	1.142	-0.649255	0.03506	0.008398	0.040465	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.11712	2.75;2.78	5.11	-0.311	0.12761	Immunoglobulin-like (1);	0.985312	0.08334	N	0.961859	T	0.00967	0.0032	N	0.04508	-0.205	0.27371	N	0.955684	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46373	-0.9196	10	0.15066	T	0.55	.	8.2849	0.31922	0.4325:0.0:0.5675:0.0	.	217;217	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	G	217	ENSP00000319279:R217G;ENSP00000304161:R217G	ENSP00000304161:R217G	R	+	1	2	MALT1	54518803	0.503000	0.26115	0.185000	0.23176	0.114000	0.19823	0.657000	0.24963	-0.046000	0.13446	-0.375000	0.07067	AGA	A|0.975;G|0.025	0.025	strong		0.358	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		Missense_Mutation	G	56367823	A	G	56367823	5	3	23	1	0	0	0	0	0	0	1	0	9202	318	11	3	663	3	MALT1	18	56367823	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1120510	56367823	21709425	4092	20548										
ZNF532	55205	hgsc.bcm.edu	37	chr18	56648756	56648756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtttgatgctggagaagcaCgtccagctgatgcatggcat	13	9	0	3	rs61733373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:56648756C>T	ENST00000336078.4	+	10	4094	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ZNF532_ENST00000591808.1_Silent_p.H1106H|ZNF532_ENST00000591230.1_Silent_p.H1106H|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Silent_p.H1106H|ZNF532_ENST00000591083.1_Silent_p.H1106H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGGAGAAGCACGTCCAGCTGA	0.473													C|||	324	0.0646965	0.0061	0.0519	5008	,	,		20176	0.0188		0.1252	False		,,,				2504	0.138				p.H1106H		Atlas-SNP	.											.	ZNF532	108	.	0			c.C3318T						PASS	.	C		105,4301	81.9+/-120.4	0,105,2098	128	120	123		3318	2.3	1	18	dbSNP_129	123	1153,7447	236.8+/-268.9	80,993,3227	no	coding-synonymous	ZNF532	NM_018181.4		80,1098,5325	TT,TC,CC		13.407,2.3831,9.6725		1106/1302	56648756	1258,11748	2203	4300	6503	SO:0001819	synonymous_variant	55205	exon10			GAAGCACGTCCAG	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3318C>T	18.37:g.56648756C>T		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	235	111	0.47234	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																			C|0.910;T|0.090	0.090	strong		0.473	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56648756	C	T	56648756	2	4	23	1	0	0	0	0	0	0	0	1	17969	535	19	1		1	ZNF532	18	56648756	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	280933	56648756	21428492	4093	20549										
CDH20	28316	hgsc.bcm.edu	37	chr18	59166541	59166541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacgccattcagaggctcgaCcgagaggaaagagcccagta	12	12	1	3	rs12964819	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:59166541C>T	ENST00000262717.4	+	3	767	c.369C>T	c.(367-369)gaC>gaT	p.D123D	CDH20_ENST00000538374.1_Silent_p.D123D|CDH20_ENST00000536675.2_Silent_p.D123D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGAGGCTCGACCGAGAGGAAA	0.542													T|||	3116	0.622204	0.6157	0.5576	5008	,	,		18062	0.5417		0.6531	False		,,,				2504	0.728				p.D123D		Atlas-SNP	.											CDH20,NS,carcinoma,+2,1	CDH20	117	1	0			c.C369T						PASS	.	T		2838,1568	489.7+/-361.6	912,1014,277	61	50	54		369	-1.8	0.6	18	dbSNP_121	54	5733,2867	449.1+/-362.0	1916,1901,483	no	coding-synonymous	CDH20	NM_031891.2		2828,2915,760	TT,TC,CC		33.3372,35.5878,34.0996		123/802	59166541	8571,4435	2203	4300	6503	SO:0001819	synonymous_variant	28316	exon2			GCTCGACCGAGAG	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.369C>T	18.37:g.59166541C>T		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	127	125	0.984252	NM_031891	Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																			C|0.363;T|0.637	0.637	strong		0.542	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		T	59166541	C	T	59166541	2	4	23	1	0	0	0	0	0	0	0	1	3106	506	18	2		2	CDH20	18	59166541	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2517785	59166541	18910707	4094	20550										
TNFRSF11A	8792	hgsc.bcm.edu	37	chr18	60021761	60021761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgccgggcctgggcgcccagCacccgtgtacgggttggatg	17	14	0	0	rs35211496	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:60021761C>T	ENST00000586569.1	+	4	459	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.H141Y	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	141			H -> Y (in dbSNP:rs35211496).		adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGGCGCCCAGCACCCGTGTAC	0.652													C|||	287	0.0573083	0.0038	0.0908	5008	,	,		16570	0.001		0.174	False		,,,				2504	0.044				p.H141Y		Atlas-SNP	.											TNFRSF11A,NS,carcinoma,0,1	TNFRSF11A	51	1	0			c.C421T						PASS	.	C	TYR/HIS	147,4137		4,139,1999	26	31	29		421	3.1	1	18	dbSNP_126	29	1506,6922		135,1236,2843	yes	missense	TNFRSF11A	NM_003839.2	83	139,1375,4842	TT,TC,CC		17.869,3.4314,13.0035	possibly-damaging	141/617	60021761	1653,11059	2142	4214	6356	SO:0001583	missense	8792	exon4			GCCCAGCACCCGT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.421C>T	18.37:g.60021761C>T	ENSP00000465500:p.His141Tyr	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_001270951	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	176	0.08058608058608059	3	0.006097560975609756	47	0.1298342541436464	1	0.0017482517482517483	125	0.16490765171503957	C	13.72	2.320014	0.41096	0.034314	0.17869	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.62232	0.04	5.05	3.12	0.35913	TNFR/CD27/30/40/95 cysteine-rich region (1);	2.113090	0.02415	U	0.082057	T	0.00144	0.0004	L	0.36672	1.1	0.40234	P	0.022110999999999992	P;P	0.35700	0.516;0.461	B;B	0.23419	0.046;0.039	T	0.03910	-1.0993	8	.	.	.	-12.7549	9.9869	0.41847	0.153:0.6986:0.1483:0.0	rs35211496;rs61751990	163;141	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	Y	163;141	ENSP00000269485:H141Y	.	H	+	1	0	TNFRSF11A	58172741	0.867000	0.29959	0.999000	0.59377	0.998000	0.95712	1.907000	0.39897	1.239000	0.43787	0.650000	0.86243	CAC	C|0.883;T|0.117	0.117	strong		0.652	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60021761	C	T	60021761	3	4	23	1	0	0	0	0	1	0	0	0	16281	710	25	2	435	2	TNFRSF11A	18	60021761	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	855220	60021761	18055487	4095	20551										
ZCCHC2	54877	hgsc.bcm.edu	37	chr18	60231851	60231851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaataaataagaagaaaggAaagccacaaacagaaaagta	7	5	1	3	rs12956093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:60231851A>G	ENST00000269499.5	+	10	2152	c.1734A>G	c.(1732-1734)ggA>ggG	p.G578G	ZCCHC2_ENST00000586834.1_Silent_p.G257G	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	578						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAGAAAGGAAAGCCACAAA	0.308													A|||	414	0.0826677	0.0068	0.1816	5008	,	,		16285	0.001		0.2386	False		,,,				2504	0.0389				p.G578G		Atlas-SNP	.											.	ZCCHC2	64	.	0			c.A1734G						PASS	.	A		138,3382		3,132,1625	50	42	44		1734	3.6	1	18	dbSNP_121	44	1460,6500		123,1214,2643	no	coding-synonymous	ZCCHC2	NM_017742.4		126,1346,4268	GG,GA,AA		18.3417,3.9205,13.9199		578/1179	60231851	1598,9882	1760	3980	5740	SO:0001819	synonymous_variant	54877	exon10			GAAAGGAAAGCCA	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1734A>G	18.37:g.60231851A>G		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	162	87	0.537037	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	CCDS45880.1																																																																																			A|0.878;G|0.122	0.122	strong		0.308	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		G	60231851	A	G	60231851	2	3	23	1	0	0	0	0	0	0	0	1	17584	233	9	2		2	ZCCHC2	18	60231851	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	210090	60231851	17845397	4096	20552										
PHLPP1	23239	hgsc.bcm.edu	37	chr18	60645509	60645509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccaggatggcaaggtgaaCggagtgactgagtccacgcg	15	9	0	3	rs34061095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:60645509C>T	ENST00000262719.5	+	17	4233	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	PHLPP1_ENST00000400316.4_Silent_p.N821N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1333	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCAAGGTGAACGGAGTGACTG	0.602													C|||	145	0.0289537	0.003	0.0389	5008	,	,		23677	0.002		0.1004	False		,,,				2504	0.0112				p.N1333N		Atlas-SNP	.											.	PHLPP1	164	.	0			c.C3999T						PASS	.	C		68,4200		0,68,2066	42	47	45		3999	-0.9	1	18	dbSNP_126	45	726,7752		30,666,3543	no	coding-synonymous	PHLPP1	NM_194449.2		30,734,5609	TT,TC,CC		8.5633,1.5933,6.2294		1333/1718	60645509	794,11952	2134	4239	6373	SO:0001819	synonymous_variant	23239	exon17			GGTGAACGGAGTG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3999C>T	18.37:g.60645509C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	90	90	1	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	CCDS45881.2																																																																																			C|0.951;T|0.049	0.049	strong		0.602	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		T	60645509	C	T	60645509	2	4	23	1	0	0	0	0	0	0	0	1	11854	535	19	1		1	PHLPP1	18	60645509	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	413658	60645509	17431739	4097	20553										
SERPINB5	5268	hgsc.bcm.edu	37	chr18	61170721	61170721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctgaaacatatcttcagTgaagacacatctgatttctc	8	9	4	4	rs1455556	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:61170721T>C	ENST00000382771.4	+	7	1186	c.894T>C	c.(892-894)agT>agC	p.S298S		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	298					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATATCTTCAGTGAAGACACAT	0.423													T|||	2633	0.525759	0.3396	0.6037	5008	,	,		20574	0.5972		0.6978	False		,,,				2504	0.4714				p.S298S		Atlas-SNP	.											.	SERPINB5	35	.	0			c.T894C						PASS	.	T		1712,2694	515.9+/-369.0	345,1022,836	99	88	92		894	-4.8	0.5	18	dbSNP_88	92	5921,2679	684.4+/-404.0	2044,1833,423	no	coding-synonymous	SERPINB5	NM_002639.4		2389,2855,1259	CC,CT,TT		31.1512,38.8561,41.3117		298/376	61170721	7633,5373	2203	4300	6503	SO:0001819	synonymous_variant	5268	exon7			CTTCAGTGAAGAC	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.894T>C	18.37:g.61170721T>C		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	192	107	0.557292	NM_002639	B2R6Y4|Q6N0B4|Q8WW89	Silent	SNP	ENST00000382771.4	37	CCDS32839.1																																																																																			T|0.435;C|0.565	0.565	strong		0.423	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		C	61170721	T	C	61170721	2	2	23	1	0	0	0	0	0	0	0	1	14104	1693	59	2		2	SERPINB5	18	61170721	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	525212	61170721	16906527	4098	20554										
SERPINB8	5271	hgsc.bcm.edu	37	chr18	61654463	61654463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttcttttcttcatcaggcAccacaaaaccaactgcatct	3	13	5	0	rs3826616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:61654463A>G	ENST00000397985.2	+	7	1332	c.1076A>G	c.(1075-1077)cAc>cGc	p.H359R	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.H177R|SERPINB8_ENST00000353706.2_Missense_Mutation_p.H359R	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	359			H -> R (in dbSNP:rs3826616). {ECO:0000269|PubMed:8530382}.		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTCATCAGGCACCACAAAACC	0.502													A|||	2747	0.548522	0.3782	0.6744	5008	,	,		19698	0.5446		0.5427	False		,,,				2504	0.6994				p.H359R		Atlas-SNP	.											.	SERPINB8	42	.	0			c.A1076G						PASS	.	A	ARG/HIS,ARG/HIS	1874,2532	539.1+/-375.2	403,1068,732	100	99	99		1076,1076	5.7	0.1	18	dbSNP_107	99	4989,3611	625.4+/-397.7	1452,2085,763	yes	missense,missense	SERPINB8	NM_002640.3,NM_198833.1	29,29	1855,3153,1495	GG,GA,AA		41.9884,42.5329,47.232	probably-damaging,probably-damaging	359/375,359/375	61654463	6863,6143	2203	4300	6503	SO:0001583	missense	5271	exon7			TCAGGCACCACAA	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1076A>G	18.37:g.61654463A>G	ENSP00000381072:p.His359Arg	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	137	73	0.532847	NM_198833	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	1199	0.548992673992674	218	0.44308943089430897	233	0.643646408839779	318	0.5559440559440559	430	0.5672823218997362	A	16.85	3.236928	0.58886	0.425329	0.580116	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.82984	-1.67;-1.67;2.72	5.65	5.65	0.86999	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.88640	2.97	0.09310	P	0.9999999695095	D	0.71674	0.998	D	0.73380	0.98	T	0.49808	-0.8900	9	0.87932	D	0	.	15.2098	0.73214	1.0:0.0:0.0:0.0	rs3826616;rs52836834;rs3826616	359	P50452	SPB8_HUMAN	R	359;359;177	ENSP00000381072:H359R;ENSP00000331368:H359R;ENSP00000438328:H177R	ENSP00000331368:H359R	H	+	2	0	SERPINB8	59805443	1.000000	0.71417	0.130000	0.21974	0.163000	0.22366	9.044000	0.93805	2.371000	0.80710	0.533000	0.62120	CAC	A|0.466;G|0.534	0.534	strong		0.502	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		G	61654463	A	G	61654463	3	3	23	1	0	0	0	0	1	0	0	0	14107	159	6	2	1111	2	SERPINB8	18	61654463	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	483742	61654463	16422785	4099	20555										
CDH7	1005	hgsc.bcm.edu	37	chr18	63477206	63477206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttttggatggcccatacacGgcaggagttcccgaaatgtc	11	10	0	0	rs17075229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:63477206G>A	ENST00000397968.2	+	3	903	c.477G>A	c.(475-477)acG>acA	p.T159T	CDH7_ENST00000323011.3_Silent_p.T159T|CDH7_ENST00000536984.2_Silent_p.T159T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	159	Cadherin 2. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCCCATACACGGCAGGAGTTC	0.443													G|||	83	0.0165735	0.0008	0.0778	5008	,	,		16186	0.0		0.0199	False		,,,				2504	0.0082				p.T159T		Atlas-SNP	.											CDH7_ENST00000323011,NS,carcinoma,+2,2	CDH7	362	2	0			c.G477A						scavenged	.	G	,	23,4383	30.8+/-60.4	0,23,2180	88	87	87		477,477	-11.7	0.3	18	dbSNP_123	87	153,8447	74.2+/-136.8	1,151,4148	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	1,174,6328	AA,AG,GG		1.7791,0.522,1.3532	,	159/786,159/786	63477206	176,12830	2203	4300	6503	SO:0001819	synonymous_variant	1005	exon3			ATACACGGCAGGA	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.477G>A	18.37:g.63477206G>A		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	125	52	0.416	NM_004361	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			G|0.984;A|0.016	0.016	strong		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63477206	G	A	63477206	2	1	23	1	0	0	0	0	0	0	0	1	3115	1103	39	1		1	CDH7	18	63477206	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1822743	63477206	14600042	4100	20556										
CDH7	1005	hgsc.bcm.edu	37	chr18	63511176	63511176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaagataattgtggaagaTgtagatgagccccctgtgtt	13	5	0	5	rs2306675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:63511176T>C	ENST00000397968.2	+	7	1536	c.1110T>C	c.(1108-1110)gaT>gaC	p.D370D	CDH7_ENST00000323011.3_Silent_p.D370D|CDH7_ENST00000536984.2_Silent_p.D370D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs2306675).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D370D(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGTGGAAGATGTAGATGAGC	0.502													T|||	932	0.186102	0.1528	0.2205	5008	,	,		12857	0.0377		0.3489	False		,,,				2504	0.1922				p.D370D		Atlas-SNP	.											CDH7,NS,carcinoma,0,1	CDH7	362	1	1	Substitution - coding silent(1)	stomach(1)	c.T1110C						PASS	.	T	,	856,3550	334.9+/-303.7	88,680,1435	188	156	167		1110,1110	-7.5	0.8	18	dbSNP_100	167	2914,5686	455.7+/-363.9	488,1938,1874	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	576,2618,3309	CC,CT,TT		33.8837,19.4281,28.9866	,	370/786,370/786	63511176	3770,9236	2203	4300	6503	SO:0001819	synonymous_variant	1005	exon7			GGAAGATGTAGAT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1110T>C	18.37:g.63511176T>C		Somatic	297	0	0		WXS	Illumina HiSeq	Phase_I	276	123	0.445652	NM_004361	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			T|0.756;C|0.244	0.244	strong		0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63511176	T	C	63511176	2	2	23	1	0	0	0	0	0	0	0	1	3115	1461	51	2		2	CDH7	18	63511176	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	33970	63511176	14566072	4101	20557										
CDH19	28513	hgsc.bcm.edu	37	chr18	64172434	64172434	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtatcttcttctccacccCcttcatcatcatattggaat	3	14	6	0	rs55874520	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:64172434C>G	ENST00000262150.2	-	12	2226	c.1934G>C	c.(1933-1935)gGg>gCg	p.G645A	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCTCCACCCCCTTCATCATC	0.403													c|||	35	0.00698882	0.0015	0.0101	5008	,	,		14403	0.0		0.0258	False		,,,				2504	0.0				p.G645A		Atlas-SNP	.											.	CDH19	141	.	0			c.G1934C						PASS	.	C	ALA/GLY	26,4380	29.0+/-57.7	0,26,2177	169	169	169		1934	5.2	0.8	18	dbSNP_129	169	219,8381	83.1+/-145.7	3,213,4084	yes	missense	CDH19	NM_021153.2	60	3,239,6261	GG,GC,CC		2.5465,0.5901,1.8837	probably-damaging	645/773	64172434	245,12761	2203	4300	6503	SO:0001583	missense	28513	exon12			CCACCCCCTTCAT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1934G>C	18.37:g.64172434C>G	ENSP00000262150:p.Gly645Ala	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	201	97	0.482587	NM_021153	O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	25	0.011446886446886446	0	0.0	5	0.013812154696132596	0	0.0	20	0.026385224274406333	c	19.92	3.917129	0.73098	0.005901	0.025465	ENSG00000071991	ENST00000262150	D	0.85556	-2.0	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.91717	3.235	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90204	0.4259	10	0.87932	D	0	.	19.0693	0.93126	0.0:1.0:0.0:0.0	rs55874520	645	Q9H159	CAD19_HUMAN	A	645	ENSP00000262150:G645A	ENSP00000262150:G645A	G	-	2	0	CDH19	62323414	1.000000	0.71417	0.759000	0.31340	0.423000	0.31445	7.284000	0.78650	2.564000	0.86499	0.650000	0.86243	GGG	C|0.983;G|0.017	0.017	strong		0.403	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		G	64172434	C	G	64172434	3	3	23	1	0	0	0	0	1	0	0	0	3104	623	22	4	388	4	CDH19	18	64172434	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	661258	64172434	13904814	4102	20558										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66678326	66678326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaactaaagcagggactcaaTcaaaaagaagatgaggtact	10	6	2	3	rs3763951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:66678326T>C	ENST00000360242.5	+	7	1536	c.1419T>C	c.(1417-1419)aaT>aaC	p.N473N	CCDC102B_ENST00000319445.6_Silent_p.N473N|CCDC102B_ENST00000584156.1_Silent_p.N473N	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	473										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGGGACTCAATCAAAAAGAAG	0.363													C|||	419	0.0836661	0.0431	0.085	5008	,	,		17731	0.2341		0.0249	False		,,,				2504	0.0429				p.N473N		Atlas-SNP	.											.	CCDC102B	92	.	0			c.T1419C						PASS	.	C	,	156,4250	810.2+/-416.0	2,152,2049	95	92	93		1419,1419	3.3	0	18	dbSNP_107	93	257,8343	807.1+/-407.2	3,251,4046	no	coding-synonymous,coding-synonymous	CCDC102B	NM_001093729.1,NM_024781.2	,	5,403,6095	CC,CT,TT		2.9884,3.5406,3.1755	,	473/514,473/514	66678326	413,12593	2203	4300	6503	SO:0001819	synonymous_variant	79839	exon9			ACTCAATCAAAAA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1419T>C	18.37:g.66678326T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	142	142	1	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	CCDS11996.2																																																																																			T|0.949;C|0.051	0.051	strong		0.363	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		C	66678326	T	C	66678326	2	2	23	1	0	0	0	0	0	0	0	1	2737	1432	50	2		2	CCDC102B	18	66678326	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2505892	66678326	11398922	4103	20559										
RTTN	25914	hgsc.bcm.edu	37	chr18	67755252	67755252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcaccatactacattctgaCtggtccagaagaatgttcac	7	12	2	3	rs376382612		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:67755252C>G	ENST00000255674.6	-	31	4561	c.4275G>C	c.(4273-4275)caG>caC	p.Q1425H	RTTN_ENST00000437017.1_Missense_Mutation_p.Q1425H|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1425					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACATTCTGACTGGTCCAGAA	0.483																																					p.Q1425H		Atlas-SNP	.											.	RTTN	184	.	0			c.G4275C						PASS	.	C	HIS/GLN	0,3862		0,0,1931	100	98	98		4275	-1	1	18		98	1,8241		0,1,4120	no	missense	RTTN	NM_173630.3	24	0,1,6051	GG,GC,CC		0.0121,0.0,0.0083	benign	1425/2227	67755252	1,12103	1931	4121	6052	SO:0001583	missense	25914	exon31			TTCTGACTGGTCC	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4275G>C	18.37:g.67755252C>G	ENSP00000255674:p.Gln1425His	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878046	0.33162	0.0	1.21E-4	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.68331	-0.32;-0.32	5.45	-0.961	0.10337	Armadillo-like helical (1);	0.110450	0.64402	D	0.000007	T	0.43389	0.1245	L	0.35414	1.06	0.80722	D	1	P	0.34934	0.476	B	0.26094	0.066	T	0.10428	-1.0630	10	0.40728	T	0.16	.	5.2259	0.15393	0.2225:0.4534:0.0:0.3242	.	1425	Q86VV8	RTTN_HUMAN	H	1425	ENSP00000255674:Q1425H;ENSP00000399520:Q1425H	ENSP00000255674:Q1425H	Q	-	3	2	RTTN	65906232	0.988000	0.35896	0.987000	0.45799	0.968000	0.65278	0.302000	0.19192	0.074000	0.16767	0.484000	0.47621	CAG	.	.	weak		0.483	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		G	67755252	C	G	67755252	3	3	23	1	0	0	0	0	1	0	0	0	13737	564	20	4	2481	4	RTTN	18	67755252	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1076926	67755252	10321996	4104	20560										
SOCS6	9306	hgsc.bcm.edu	37	chr18	67992432	67992432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcgtccggaaggatttccaCgacctccagtctgagaccac	11	14	1	1	rs2231563	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:67992432C>T	ENST00000397942.3	+	2	844	c.528C>T	c.(526-528)caC>caT	p.H176H	SOCS6_ENST00000582322.1_Silent_p.H176H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	176					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AGGATTTCCACGACCTCCAGT	0.552													C|||	197	0.0393371	0.0113	0.0231	5008	,	,		18705	0.0198		0.0785	False		,,,				2504	0.0685				p.H176H	Melanoma(84;1024 1361 24382 36583 42651)	Atlas-SNP	.											.	SOCS6	54	.	0			c.C528T						PASS	.	C		84,4322	71.4+/-109.4	1,82,2120	68	60	63		528	-7.3	0	18	dbSNP_98	63	638,7962	163.2+/-215.8	31,576,3693	no	coding-synonymous	SOCS6	NM_004232.3		32,658,5813	TT,TC,CC		7.4186,1.9065,5.5513		176/536	67992432	722,12284	2203	4300	6503	SO:0001819	synonymous_variant	9306	exon2			TTTCCACGACCTC	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.528C>T	18.37:g.67992432C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_004232	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																			C|0.949;T|0.051	0.051	strong		0.552	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67992432	C	T	67992432	2	4	23	1	0	0	0	0	0	0	0	1	14918	535	19	1		1	SOCS6	18	67992432	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	237180	67992432	10084816	4105	20561										
SOCS6	9306	hgsc.bcm.edu	37	chr18	67993227	67993227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactcaaatggtaggtttagCttttatgaacagccagatgt	9	7	1	2	rs112244149	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:67993227C>T	ENST00000397942.3	+	2	1639	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	SOCS6_ENST00000582322.1_Silent_p.S441S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	441	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTAGGTTTAGCTTTTATGAAC	0.413													C|||	12	0.00239617	0.0008	0.0029	5008	,	,		22146	0.0		0.005	False		,,,				2504	0.0041				p.S441S	Melanoma(84;1024 1361 24382 36583 42651)	Atlas-SNP	.											.	SOCS6	54	.	0			c.C1323T						PASS	.	C		7,4399	12.9+/-30.5	0,7,2196	116	112	113		1323	4.8	1	18	dbSNP_132	113	60,8540	37.4+/-92.8	0,60,4240	no	coding-synonymous	SOCS6	NM_004232.3		0,67,6436	TT,TC,CC		0.6977,0.1589,0.5151		441/536	67993227	67,12939	2203	4300	6503	SO:0001819	synonymous_variant	9306	exon2			GTTTAGCTTTTAT	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1323C>T	18.37:g.67993227C>T		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	181	66	0.364641	NM_004232	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																			C|0.995;T|0.005	0.005	strong		0.413	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67993227	C	T	67993227	2	4	23	1	0	0	0	0	0	0	0	1	14918	796	28	2		2	SOCS6	18	67993227	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	795	67993227	10084021	4106	20562										
NETO1	81832	hgsc.bcm.edu	37	chr18	70526301	70526301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtaaagttcaatgcactgtcTtggagcggctgtaaagaaga	12	6	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:70526301T>C	ENST00000327305.6	-	4	886	c.229A>G	c.(229-231)Aga>Gga	p.R77G	NETO1_ENST00000299430.2_Missense_Mutation_p.R76G|NETO1_ENST00000397929.1_Missense_Mutation_p.R76G|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.R77G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	77	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGCACTGTCTTGGAGCGGCT	0.368																																					p.R77G		Atlas-SNP	.											.	NETO1	178	.	0			c.A229G						PASS	.						57	57	57					18																	70526301		2203	4300	6503	SO:0001583	missense	81832	exon4			ACTGTCTTGGAGC	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.229A>G	18.37:g.70526301T>C	ENSP00000313088:p.Arg77Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	150	51	0.34	NM_001201465	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	9.808	1.182281	0.21787	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.23754	1.89;1.89;2.15	5.35	5.35	0.76521	CUB (5);	0.000000	0.64402	D	0.000003	T	0.23532	0.0569	N	0.01482	-0.84	0.80722	D	1	D;D;P	0.76494	0.999;0.989;0.592	D;D;B	0.80764	0.994;0.985;0.241	T	0.50233	-0.8852	10	0.25751	T	0.34	-24.7403	15.6405	0.76997	0.0:0.0:0.0:1.0	.	76;76;77	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	G	77;76;76	ENSP00000313088:R77G;ENSP00000299430:R76G;ENSP00000381024:R76G	ENSP00000299430:R76G	R	-	1	2	NETO1	68677281	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.054000	0.57434	2.159000	0.67721	0.533000	0.62120	AGA	.	.	none		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		C	70526301	T	C	70526301	3	2	23	1	0	0	0	0	1	0	0	0	10339	1617	56	3	1409	3	NETO1	18	70526301	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2533074	70526301	7550947	4107	20563										
CNDP1	84735	hgsc.bcm.edu	37	chr18	72238472	72238472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacctttggtggcatccttCatgaaccaatggctgatctg	10	10	2	2	rs73973908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72238472C>A	ENST00000358821.3	+	7	1036	c.808C>A	c.(808-810)Cat>Aat	p.H270N	CNDP1_ENST00000582365.1_Missense_Mutation_p.H227N	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	270						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.H270N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGCATCCTTCATGAACCAAT	0.413													C|||	809	0.161542	0.2262	0.1297	5008	,	,		22319	0.1419		0.1282	False		,,,				2504	0.1513				p.H270N	Melanoma(32;1029 1042 25286 38395 44237)	Atlas-SNP	.											CNDP1,NS,carcinoma,0,1	CNDP1	98	1	1	Substitution - Missense(1)	stomach(1)	c.C808A						PASS	.	C	ASN/HIS	860,3546	340.7+/-306.4	84,692,1427	240	206	218		808	-11.6	0	18	dbSNP_130	218	1166,7434	238.3+/-269.8	87,992,3221	yes	missense	CNDP1	NM_032649.5	68	171,1684,4648	AA,AC,CC		13.5581,19.5188,15.5774	benign	270/508	72238472	2026,10980	2203	4300	6503	SO:0001583	missense	84735	exon7			ATCCTTCATGAAC		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.808C>A	18.37:g.72238472C>A	ENSP00000351682:p.His270Asn	Somatic	372	3	0.00806452		WXS	Illumina HiSeq	Phase_I	349	344	0.985673	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	332	0.152014652014652	99	0.20121951219512196	44	0.12154696132596685	84	0.14685314685314685	105	0.13852242744063326	C	12.02	1.812873	0.32053	0.195188	0.135581	ENSG00000150656	ENST00000358821	T	0.56776	0.44	5.82	-11.6	0.00059	Peptidase M20, dimerisation (1);	0.576924	0.19497	N	0.112834	T	0.00039	0.0001	L	0.28649	0.875	0.58432	P	5.000000000032756E-6	B	0.14805	0.011	B	0.17722	0.019	T	0.48525	-0.9028	9	0.49607	T	0.09	-4.675	32.931	0.99999	0.0939:0.9061:0.0:0.0	.	270	Q96KN2	CNDP1_HUMAN	N	270	ENSP00000351682:H270N	ENSP00000351682:H270N	H	+	1	0	CNDP1	70389452	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	-0.509000	0.06336	-2.037000	0.00920	-0.467000	0.05162	CAT	C|0.848;A|0.152	0.152	strong		0.413	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72238472	C	A	72238472	3	1	23	1	0	0	0	0	1	0	0	0	3593	826	29	4	834	4	CNDP1	18	72238472	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1712171	72238472	5838776	4108	20564										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72997677	72997677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatccgcagtgtcccgacagCgtctcgtacccccaggacag	11	16	1	0	rs3826609	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72997677C>T	ENST00000580243.1	+	2	663	c.315C>T	c.(313-315)agC>agT	p.S105S	TSHZ1_ENST00000322038.5_Silent_p.S60S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	105	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCCCGACAGCGTCTCGTACC	0.557													C|||	926	0.184904	0.0295	0.2997	5008	,	,		13935	0.1498		0.329	False		,,,				2504	0.2014				p.S60S		Atlas-SNP	.											.	TSHZ1	104	.	0			c.C180T						PASS	.	C		374,4032	191.6+/-217.2	16,342,1845	97	80	86		180	-1.2	0	18	dbSNP_107	86	2667,5933	429.2+/-356.1	418,1831,2051	yes	coding-synonymous	TSHZ1	NM_005786.4		434,2173,3896	TT,TC,CC		31.0116,8.4884,23.3815		60/1033	72997677	3041,9965	2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			CGACAGCGTCTCG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.315C>T	18.37:g.72997677C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	32	0.470588	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				C|0.779;T|0.221	0.221	strong		0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		T	72997677	C	T	72997677	2	4	23	1	0	0	0	0	0	0	0	1	16620	767	27	1		1	TSHZ1	18	72997677	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	759205	72997677	5079571	4109	20565										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72998004	72998004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcagcagacgtcctcgtaTgggctgcttcctgagcccag	12	14	0	2	rs3744908	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72998004T>C	ENST00000580243.1	+	2	990	c.642T>C	c.(640-642)taT>taC	p.Y214Y	TSHZ1_ENST00000322038.5_Silent_p.Y169Y			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	214					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGTCCTCGTATGGGCTGCTTC	0.632													C|||	1381	0.275759	0.1293	0.3545	5008	,	,		13589	0.1687		0.4085	False		,,,				2504	0.3916				p.Y169Y		Atlas-SNP	.											.	TSHZ1	104	.	0			c.T507C						PASS	.	C		742,3664	750.0+/-412.1	66,610,1527	47	37	40		507	-1.8	1	18	dbSNP_107	40	3449,5151	630.5+/-398.4	690,2069,1541	no	coding-synonymous	TSHZ1	NM_005786.4		756,2679,3068	CC,CT,TT		40.1047,16.8407,32.2236		169/1033	72998004	4191,8815	2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			CTCGTATGGGCTG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.642T>C	18.37:g.72998004T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				T|0.690;C|0.310	0.310	strong		0.632	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72998004	T	C	72998004	2	2	23	1	0	0	0	0	0	0	0	1	16620	1471	51	2		2	TSHZ1	18	72998004	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	327	72998004	5079244	4110	20566										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72998296	72998296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgctgaagtgcatgtacTgtggacactcctttgagtcc	12	9	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72998296T>C	ENST00000580243.1	+	2	1282	c.934T>C	c.(934-936)Tgt>Cgt	p.C312R	TSHZ1_ENST00000322038.5_Missense_Mutation_p.C267R			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	312					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGCATGTACTGTGGACACTC	0.557																																					p.C267R		Atlas-SNP	.											.	TSHZ1	104	.	0			c.T799C						PASS	.						150	122	131					18																	72998296		2203	4300	6503	SO:0001583	missense	10194	exon2			ATGTACTGTGGAC	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.934T>C	18.37:g.72998296T>C	ENSP00000464391:p.Cys312Arg	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	159	50	0.314465	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	T	10.93	1.490440	0.26686	.	.	ENSG00000179981	ENST00000322038	D	0.83755	-1.76	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.89942	0.6861	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90801	0.4694	10	0.87932	D	0	-17.6812	15.4172	0.74980	0.0:0.0:0.0:1.0	.	312	Q6ZSZ6	TSH1_HUMAN	R	267	ENSP00000323584:C267R	ENSP00000323584:C267R	C	+	1	0	TSHZ1	71127284	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	7.694000	0.84235	2.512000	0.84698	0.561000	0.74099	TGT	.	.	none		0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72998296	T	C	72998296	3	2	23	1	0	0	0	0	1	0	0	0	16620	1580	55	3	801	3	TSHZ1	18	72998296	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	292	72998296	5078952	4111	20567										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72998886	72998886	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagagaaggagaagccgccTgtggctggcgacgcggagaa	17	10	0	3	rs3809997	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72998886T>C	ENST00000580243.1	+	2	1872	c.1524T>C	c.(1522-1524)ccT>ccC	p.P508P	TSHZ1_ENST00000322038.5_Silent_p.P463P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	508					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGCCGCCTGTGGCTGGCG	0.602													C|||	1714	0.342252	0.3865	0.3732	5008	,	,		17539	0.1687		0.4115	False		,,,				2504	0.3681				p.P463P		Atlas-SNP	.											.	TSHZ1	104	.	0			c.T1389C						PASS	.	C		1701,2705	632.5+/-395.8	345,1011,847	80	95	90		1389	-9	0	18	dbSNP_107	90	3465,5135	613.6+/-396.1	702,2061,1537	no	coding-synonymous	TSHZ1	NM_005786.4		1047,3072,2384	CC,CT,TT		40.2907,38.6064,39.7201		463/1033	72998886	5166,7840	2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			GCCGCCTGTGGCT	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1524T>C	18.37:g.72998886T>C		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				T|0.630;C|0.370	0.370	strong		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72998886	T	C	72998886	2	2	23	1	0	0	0	0	0	0	0	1	16620	1567	55	3		3	TSHZ1	18	72998886	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	590	72998886	5078362	4112	20568										
TSHZ1	10194	hgsc.bcm.edu	37	chr18	72999359	72999359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagaaggagaagagctcccTggccaaggctgcgtccccca	13	13	0	3	rs55679337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:72999359T>C	ENST00000580243.1	+	2	2345	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	TSHZ1_ENST00000322038.5_Missense_Mutation_p.L621P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	666			L -> P (in dbSNP:rs55679337).		anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGAGCTCCCTGGCCAAGGCT	0.557													C|||	1233	0.246206	0.1415	0.317	5008	,	,		19251	0.1726		0.3499	False		,,,				2504	0.3067				p.L621P		Atlas-SNP	.											.	TSHZ1	104	.	0			c.T1862C						PASS	.	C	PRO/LEU	734,3672	755.7+/-412.6	61,612,1530	97	86	89		1862	5.2	0	18	dbSNP_129	89	2862,5738	670.7+/-402.8	487,1888,1925	yes	missense	TSHZ1	NM_005786.4	98	548,2500,3455	CC,CT,TT		33.2791,16.6591,27.6488	benign	621/1033	72999359	3596,9410	2203	4300	6503	SO:0001583	missense	10194	exon2			GCTCCCTGGCCAA	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1997T>C	18.37:g.72999359T>C	ENSP00000464391:p.Leu666Pro	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	104	40	0.384615	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		560	0.2564102564102564	73	0.1483739837398374	132	0.36464088397790057	93	0.16258741258741258	262	0.34564643799472294	C	2.991	-0.208265	0.06180	0.166591	0.332791	ENSG00000179981	ENST00000322038	T	0.36878	1.23	5.22	5.22	0.72569	.	0.263906	0.33959	N	0.004384	T	0.00012	0.0000	N	0.00583	-1.355	0.51012	P	9.80000000000425E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.51919	-0.8644	9	0.31617	T	0.26	-23.6505	14.0235	0.64571	0.0:0.9269:0.0:0.0731	rs55679337	666	Q6ZSZ6	TSH1_HUMAN	P	621	ENSP00000323584:L621P	ENSP00000323584:L621P	L	+	2	0	TSHZ1	71128347	0.956000	0.32656	0.025000	0.17156	0.018000	0.09664	3.627000	0.54252	-1.181000	0.02730	-0.258000	0.10820	CTG	A|0.000;C|0.274;G|0.000;T|0.725	0.274	strong		0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72999359	T	C	72999359	3	2	23	1	0	0	0	0	1	0	0	0	16620	1580	55	3	1864	3	TSHZ1	18	72999359	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	473	72999359	5077889	4113	20569										
NFATC1	4772	hgsc.bcm.edu	37	chr18	77211764	77211764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaagaagatggtcctgtcTggccacaacttcctgcagga	13	10	1	2	rs15350	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:77211764T>C	ENST00000427363.2	+	6	1851	c.1851T>C	c.(1849-1851)tcT>tcC	p.S617S	NFATC1_ENST00000545796.1_Silent_p.S145S|NFATC1_ENST00000253506.5_Silent_p.S617S|NFATC1_ENST00000318065.5_Silent_p.S604S|NFATC1_ENST00000586434.1_Silent_p.S604S|NFATC1_ENST00000592223.1_Silent_p.S604S|NFATC1_ENST00000397790.2_Silent_p.S145S|NFATC1_ENST00000587635.1_Missense_Mutation_p.L589P|NFATC1_ENST00000542384.1_Silent_p.S617S|NFATC1_ENST00000591814.1_Silent_p.S617S|NFATC1_ENST00000329101.4_Silent_p.S604S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	617					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGGTCCTGTCTGGCCACAACT	0.612													C|||	1425	0.284545	0.4569	0.17	5008	,	,		18388	0.3849		0.1262	False		,,,				2504	0.1922				p.S617S	GBM(151;1210 2593 28719 45011)	Atlas-SNP	.											.	NFATC1	105	.	0			c.T1851C						PASS	.	C	,,,,	1791,2615	641.0+/-397.4	361,1069,773	104	99	101		1851,1812,435,1812,1851	-4.1	0.7	18	dbSNP_119	101	1334,7266	757.0+/-407.5	109,1116,3075	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	470,2185,3848	CC,CT,TT		15.5116,40.6491,24.0274	,,,,	617/826,604/931,145/354,604/813,617/717	77211764	3125,9881	2203	4300	6503	SO:0001819	synonymous_variant	4772	exon6			CCTGTCTGGCCAC	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1851T>C	18.37:g.77211764T>C		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	54	28	0.518519	NM_172390	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																				T|0.727;C|0.273	0.273	strong		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		C	77211764	T	C	77211764	2	2	23	1	0	0	0	0	0	0	0	1	10361	1567	55	3		3	NFATC1	18	77211764	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4212405	77211764	865484	4114	20570										
KCNG2	26251	hgsc.bcm.edu	37	chr18	77659553	77659553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgacatggtcccgcgcagcCtgcccgggcaggtggtggcg	18	14	0	0	rs75339189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr18:77659553C>T	ENST00000316249.3	+	2	1138	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	380					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGCGCAGCCTGCCCGGGCA	0.677													C|||	212	0.0423323	0.0083	0.0706	5008	,	,		10473	0.0169		0.1093	False		,,,				2504	0.0256				p.L380L		Atlas-SNP	.											.	KCNG2	48	.	0			c.C1138T						PASS	.	C		104,4300	78.8+/-117.2	2,100,2100	50	46	47		1138	1	1	18	dbSNP_131	47	926,7670	203.0+/-246.1	47,832,3419	no	coding-synonymous	KCNG2	NM_012283.1		49,932,5519	TT,TC,CC		10.7725,2.3615,7.9231		380/467	77659553	1030,11970	2202	4298	6500	SO:0001819	synonymous_variant	26251	exon2			CGCAGCCTGCCCG	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1138C>T	18.37:g.77659553C>T		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	279	124	0.444444	NM_012283		Silent	SNP	ENST00000316249.3	37	CCDS12019.1																																																																																			C|0.926;T|0.074	0.074	strong		0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		T	77659553	C	T	77659553	2	4	23	1	0	0	0	0	0	0	0	1	8028	680	24	2		2	KCNG2	18	77659553	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	447789	77659553	417695	4115	20571										
ODF3L2	284451	hgsc.bcm.edu	37	chr19	464310	464310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggcggtgtccgatggcgcAcagggggcaccttctctggg	17	13	1	0	rs34551779	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:464310A>G	ENST00000315489.4	-	4	639	c.404T>C	c.(403-405)gTg>gCg	p.V135A	ODF3L2_ENST00000382696.3_Missense_Mutation_p.V99A	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	135	Pro-rich.		V -> A (in dbSNP:rs34551779). {ECO:0000269|PubMed:15489334}.			cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						CCGATGGCGCACAGGGGGCAC	0.677													a|||	2188	0.436901	0.2345	0.549	5008	,	,		11673	0.6637		0.4563	False		,,,				2504	0.3773				p.V135A		Atlas-SNP	.											.	ODF3L2	18	.	0			c.T404C						PASS	.	A	ALA/VAL	936,2648		147,642,1003	7	8	8		404	0.6	0	19	dbSNP_126	8	2842,4130		646,1550,1290	no	missense	ODF3L2	NM_182577.2	64	793,2192,2293	GG,GA,AA		40.7631,26.1161,35.7901	benign	135/290	464310	3778,6778	1792	3486	5278	SO:0001583	missense	284451	exon4			TGGCGCACAGGGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.404T>C	19.37:g.464310A>G	ENSP00000318029:p.Val135Ala	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	104	44	0.423077	NM_182577	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	1033	0.47298534798534797	113	0.22967479674796748	184	0.5082872928176796	394	0.6888111888111889	342	0.45118733509234826	A	0.019	-1.449968	0.01080	0.261161	0.407631	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.41400	1.54;1.0	4.06	0.605	0.17553	.	1.201840	0.05840	N	0.619156	T	0.00012	0.0000	N	0.15975	0.35	0.80722	P	0.0	B;B	0.14012	0.009;0.005	B;B	0.15052	0.012;0.012	T	0.42481	-0.9449	9	0.14656	T	0.56	-0.5868	3.6483	0.08194	0.4816:0.1994:0.3191:0.0	rs34551779	99;135	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	A	135;99	ENSP00000318029:V135A;ENSP00000372143:V99A	ENSP00000318029:V135A	V	-	2	0	ODF3L2	415310	0.577000	0.26708	0.037000	0.18230	0.001000	0.01503	1.422000	0.34826	0.016000	0.14998	-0.518000	0.04402	GTG	A|0.527;G|0.473	0.473	strong		0.677	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		G	464310	A	G	464310	3	3	23	1	0	0	0	0	1	0	0	0	10832	159	6	2	469	2	ODF3L2	19	464310	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10		464310	58664673	4116	20572										
MADCAM1	8174	hgsc.bcm.edu	37	chr19	501900	501900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagatctcccaggctgggcCcacgcagggagaagtgatcc	14	12	1	3	rs3745925	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:501900C>A	ENST00000215637.3	+	4	945	c.899C>A	c.(898-900)cCc>cAc	p.P300H	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P81H	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	300	Mucin-like.		P -> H (in dbSNP:rs3745925).		aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CAGGCTGGGCCCACGCAGGGA	0.667													C|||	1088	0.217252	0.2103	0.2017	5008	,	,		11442	0.3224		0.2386	False		,,,				2504	0.1074				p.P300H		Atlas-SNP	.											.	MADCAM1	29	.	0			c.C899A						PASS	.	C	HIS/PRO,	870,3470		95,680,1395	8	9	8		899,	-0.8	0	19	dbSNP_107	8	1715,6805		191,1333,2736	yes	missense,intron	MADCAM1	NM_130760.2,NM_130762.2	77,	286,2013,4131	AA,AC,CC		20.1291,20.0461,20.1011	probably-damaging,	300/383,	501900	2585,10275	2170	4260	6430	SO:0001583	missense	8174	exon4			CTGGGCCCACGCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.899C>A	19.37:g.501900C>A	ENSP00000215637:p.Pro300His	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_130760	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	566	0.2591575091575092	102	0.2073170731707317	82	0.2265193370165746	192	0.3356643356643357	190	0.25065963060686014	c	0.244	-1.011721	0.02095	0.200461	0.201291	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10382	2.88	1.75	-0.825	0.10809	.	1.969940	0.03219	U	0.177235	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.67145	0.996	P	0.46172	0.506	T	0.28964	-1.0027	9	0.46703	T	0.11	.	0.5786	0.00708	0.2459:0.3319:0.2439:0.1782	rs3745925;rs58652856;rs3745925	300	Q13477	MADCA_HUMAN	H	324;316;308;300	ENSP00000215637:P300H	ENSP00000215637:P300H	P	+	2	0	MADCAM1	452900	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.049000	0.14099	-0.143000	0.11334	0.650000	0.86243	CCC	C|0.760;A|0.240	0.240	strong		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501900	C	A	501900	3	1	23	1	0	0	0	0	1	0	0	0	9151	623	22	4	913	4	MADCAM1	19	501900	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37590	501900	58627083	4117	20573										
PRSSL1	400668	hgsc.bcm.edu	37	chr19	687078	687078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctcctcaaagtcagacacGaagccccagccagccacccg	8	18	2	1	rs72618587	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:687078G>A	ENST00000329267.7	-	4	521	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						AGTCAGACACGAAGCCCCAGC	0.692													G|||	527	0.105232	0.0719	0.0317	5008	,	,		16125	0.2738		0.0557	False		,,,				2504	0.0798				p.F164F		Atlas-SNP	.											.	PRSS57	18	.	0			c.C492T						PASS	.	G		305,4099	162.2+/-194.2	8,289,1905	36	36	36		492	-2.5	0	19	dbSNP_130	36	453,8147	134.1+/-191.5	16,421,3863	no	coding-synonymous	PRSS57	NM_214710.3		24,710,5768	AA,AG,GG		5.2674,6.9255,5.829		164/284	687078	758,12246	2202	4300	6502	SO:0001819	synonymous_variant	400668	exon4			AGACACGAAGCCC	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.492C>T	19.37:g.687078G>A		Somatic	275	1	0.00363636		WXS	Illumina HiSeq	Phase_I	262	130	0.496183	NM_214710	B2RNW8	Silent	SNP	ENST00000329267.7	37	CCDS12041.1																																																																																			G|0.928;A|0.072	0.072	strong		0.692	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		A	687078	G	A	687078	2	1	23	1	0	0	0	0	0	0	0	1	12636	1049	37	1		1	PRSSL1	19	687078	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	185178	687078	58441905	4118	20574										
PRSSL1	400668	hgsc.bcm.edu	37	chr19	687112	687112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccacccggcaccgtgtccccGctgtggggggcctggccctt	14	18	0	0	rs72618588	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:687112G>A	ENST00000329267.7	-	4	487	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	153	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CCGTGTCCCCGCTGTGGGGGG	0.687													G|||	521	0.104034	0.0726	0.0317	5008	,	,		16352	0.2738		0.0567	False		,,,				2504	0.0716				p.A153V		Atlas-SNP	.											.	PRSS57	18	.	0			c.C458T						PASS	.	G	VAL/ALA	308,4090		9,290,1900	20	22	21		458	1.9	0	19	dbSNP_130	21	448,8148		17,414,3867	yes	missense	PRSS57	NM_214710.3	64	26,704,5767	AA,AG,GG		5.2117,7.0032,5.8181	benign	153/284	687112	756,12238	2199	4298	6497	SO:0001583	missense	400668	exon4			GTCCCCGCTGTGG	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.458C>T	19.37:g.687112G>A	ENSP00000327386:p.Ala153Val	Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	184	99	0.538043	NM_214710	B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	CCDS12041.1	238	0.10897435897435898	38	0.07723577235772358	14	0.03867403314917127	148	0.25874125874125875	38	0.05013192612137203	G	10.28	1.306360	0.23736	0.070032	0.052117	ENSG00000185198	ENST00000329267	D	0.87650	-2.28	4.38	1.91	0.25777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.674599	0.12248	N	0.485869	T	0.00039	0.0001	L	0.28192	0.835	0.80722	P	0.0	B;B	0.24533	0.105;0.105	B;B	0.28011	0.059;0.085	T	0.08269	-1.0730	9	0.52906	T	0.07	.	9.4911	0.38960	0.0879:0.0:0.7611:0.151	.	152;153	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	V	153	ENSP00000327386:A153V	ENSP00000327386:A153V	A	-	2	0	PRSS57	638112	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.237000	0.08990	0.840000	0.34995	0.462000	0.41574	GCG	G|0.929;A|0.071	0.071	strong		0.687	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		A	687112	G	A	687112	3	1	23	1	0	0	0	0	1	0	0	0	12636	1087	38	1	401	1	PRSSL1	19	687112	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	34	687112	58441871	4119	20575										
C19orf22	91300	hgsc.bcm.edu	37	chr19	899444	899444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccaccggcacttactggcCgagatgaggtccatgtactg	13	12	0	2	rs2965284	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:899444C>T	ENST00000361574.5	-	7	772	c.699G>A	c.(697-699)tcG>tcA	p.S233S	R3HDM4_ENST00000587975.1_Silent_p.S212S	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	233	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										ACTTACTGGCCGAGATGAGGT	0.657													C|||	408	0.0814696	0.0159	0.1081	5008	,	,		12934	0.0109		0.1809	False		,,,				2504	0.1217				p.S233S		Atlas-SNP	.											C19orf22,NS,carcinoma,0,1	.	.	1	0			c.G699A						PASS	.	C		177,4229	114.6+/-152.6	5,167,2031	46	47	47		699	-7.7	1	19	dbSNP_101	47	1656,6944	300.6+/-305.0	170,1316,2814	no	coding-synonymous	C19orf22	NM_138774.3		175,1483,4845	TT,TC,CC		19.2558,4.0172,14.0935		233/269	899444	1833,11173	2203	4300	6503	SO:0001819	synonymous_variant	91300	exon7			ACTGGCCGAGATG	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.699G>A	19.37:g.899444C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	127	59	0.464567	NM_138774		Silent	SNP	ENST00000361574.5	37	CCDS12048.1																																																																																			C|0.877;T|0.123	0.123	strong		0.657	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		T	899444	C	T	899444	2	4	23	1	0	0	0	0	0	0	0	1	1914	639	23	1		1	C19orf22	19	899444	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	212332	899444	58229539	4120	20576										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003158	1003158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctgcagctgcactgggcCagccccctggagacgctgct	12	17	0	1	rs35163060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1003158C>T	ENST00000234389.3	+	2	475	c.456C>T	c.(454-456)gcC>gcT	p.A152A	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	152					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCACTGGGCCAGCCCCCTGG	0.692													c|||	695	0.138778	0.32	0.0504	5008	,	,		13453	0.121		0.0606	False		,,,				2504	0.0552				p.A152A		Atlas-SNP	.											.	GRIN3B	46	.	0			c.C456T						PASS	.	C		1064,3154		120,824,1165	8	9	8		456	2.3	1	19	dbSNP_126	8	555,7779		30,495,3642	no	coding-synonymous	GRIN3B	NM_138690.1		150,1319,4807	TT,TC,CC		6.6595,25.2252,12.8983		152/1044	1003158	1619,10933	2109	4167	6276	SO:0001819	synonymous_variant	116444	exon2			CTGGGCCAGCCCC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.456C>T	19.37:g.1003158C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	115	54	0.469565	NM_138690	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			C|0.875;T|0.125	0.125	strong		0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			T	1003158	C	T	1003158	2	4	23	1	0	0	0	0	0	0	0	1	6784	581	21	2		2	GRIN3B	19	1003158	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	103714	1003158	58125825	4121	20577										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003221	1003221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcgcacgcctgggaagaCgtcggcctggccctgtgccg	16	15	0	1	rs35592366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1003221C>A	ENST00000234389.3	+	2	538	c.519C>A	c.(517-519)gaC>gaA	p.D173E	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	173					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.D173E(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGGAAGACGTCGGCCTGG	0.711													t|||	499	0.0996406	0.1952	0.0274	5008	,	,		12179	0.126		0.0557	False		,,,				2504	0.0399				p.D173E		Atlas-SNP	.											GRIN3B,NS,carcinoma,0,1	GRIN3B	46	1	1	Substitution - Missense(1)	prostate(1)	c.C519A						PASS	.	T	GLU/ASP	695,3611		48,599,1506	8	10	9		519	-0.2	0.1	19	dbSNP_126	9	433,8061		9,415,3823	yes	missense	GRIN3B	NM_138690.1	45	57,1014,5329	AA,AC,CC		5.0977,16.1403,8.8125	benign	173/1044	1003221	1128,11672	2153	4247	6400	SO:0001583	missense	116444	exon2			GGAAGACGTCGGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.519C>A	19.37:g.1003221C>A	ENSP00000234389:p.Asp173Glu	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	45	23	0.511111	NM_138690	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	207	0.09478021978021978	84	0.17073170731707318	10	0.027624309392265192	68	0.11888111888111888	45	0.059366754617414245	c	0.981	-0.697012	0.03279	0.161403	0.050977	ENSG00000116032	ENST00000234389	T	0.10382	2.88	3.27	-0.17	0.13335	.	0.415688	0.20496	U	0.091183	T	0.00012	0.0000	L	0.37630	1.12	0.58432	P	1.0000000000287557E-6	B	0.18166	0.026	B	0.13407	0.009	T	0.41520	-0.9504	9	0.18276	T	0.48	.	0.749	0.00987	0.166:0.358:0.1633:0.3126	rs35592366	173	O60391	NMD3B_HUMAN	E	173	ENSP00000234389:D173E	ENSP00000234389:D173E	D	+	3	2	GRIN3B	954221	0.001000	0.12720	0.054000	0.19295	0.017000	0.09413	-0.155000	0.10115	-0.135000	0.11495	-0.384000	0.06662	GAC	C|0.904;A|0.096	0.096	strong		0.711	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003221	C	A	1003221	3	1	23	1	0	0	0	0	1	0	0	0	6784	535	19	4	525	4	GRIN3B	19	1003221	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63	1003221	58125762	4122	20578										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003374	1003374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcctggccccgatggcggcGccagtggggggtgaagcacc	18	14	0	1	rs34585248	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1003374G>A	ENST00000234389.3	+	2	691	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	224					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGATGGCGGCGCCAGTGGGGG	0.746													g|||	158	0.0315495	0.0015	0.0173	5008	,	,		11320	0.0754		0.0338	False		,,,				2504	0.0348				p.A224A		Atlas-SNP	.											.	GRIN3B	46	.	0			c.G672A						PASS	.	G		37,3905		0,37,1934	4	6	5		672	-8.1	0	19	dbSNP_126	5	211,7611		3,205,3703	no	coding-synonymous	GRIN3B	NM_138690.1		3,242,5637	AA,AG,GG		2.6975,0.9386,2.1081		224/1044	1003374	248,11516	1971	3911	5882	SO:0001819	synonymous_variant	116444	exon2			GGCGGCGCCAGTG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.672G>A	19.37:g.1003374G>A		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_138690	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			G|0.966;A|0.034	0.034	strong		0.746	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003374	G	A	1003374	2	1	23	1	0	0	0	0	0	0	0	1	6784	1074	38	1		1	GRIN3B	19	1003374	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	153	1003374	58125609	4123	20579										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1004710	1004710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccgggaggtgcctctgcaCggcccccgcccccacagggt	13	18	1	0	rs4807399	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1004710C>T	ENST00000234389.3	+	3	1229	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	404			R -> W (in dbSNP:rs4807399).		ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCTCTGCACGGCCCCCGCC	0.701													c|||	1811	0.361621	0.3956	0.3573	5008	,	,		11819	0.0933		0.5199	False		,,,				2504	0.4325				p.R404W		Atlas-SNP	.											.	GRIN3B	46	.	0			c.C1210T						PASS	.	C	TRP/ARG	1746,2640		348,1050,795	21	21	21		1210	-3.3	0	19	dbSNP_111	21	4461,4115		1183,2095,1010	no	missense	GRIN3B	NM_138690.1	101	1531,3145,1805	TT,TC,CC		47.9827,39.8085,47.8861	probably-damaging	404/1044	1004710	6207,6755	2193	4288	6481	SO:0001583	missense	116444	exon3			TCTGCACGGCCCC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1210C>T	19.37:g.1004710C>T	ENSP00000234389:p.Arg404Trp	Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	12	8	0.666667	NM_138690	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	766	0.3507326007326007	178	0.3617886178861789	151	0.4171270718232044	41	0.07167832167832168	396	0.5224274406332454	C	1.117	-0.656400	0.03480	0.398085	0.520173	ENSG00000116032	ENST00000234389	T	0.12039	2.72	4.41	-3.29	0.05017	.	19.319700	0.00937	N	0.002782	T	0.00012	0.0000	L	0.35854	1.095	0.80722	P	0.0	B	0.19073	0.033	B	0.08055	0.003	T	0.48559	-0.9025	9	0.38643	T	0.18	.	1.7399	0.02950	0.2459:0.4076:0.1132:0.2333	rs4807399	404	O60391	NMD3B_HUMAN	W	404	ENSP00000234389:R404W	ENSP00000234389:R404W	R	+	1	2	GRIN3B	955710	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-1.671000	0.01954	-0.291000	0.09012	-1.976000	0.00459	CGG	C|0.586;T|0.414	0.414	strong		0.701	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			T	1004710	C	T	1004710	3	4	23	1	0	0	0	0	1	0	0	0	6784	527	19	1	1220	1	GRIN3B	19	1004710	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1336	1004710	58124273	4124	20580										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1004844	1004844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcagctgtgcctggacccTggcaccaacgactcggccac	13	16	0	0	rs4806909	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1004844T>C	ENST00000234389.3	+	3	1363	c.1344T>C	c.(1342-1344)ccT>ccC	p.P448P	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	448					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCTGGACCCTGGCACCAACG	0.652													N|||	1605	0.320487	0.4213	0.2421	5008	,	,		15607	0.1667		0.3847	False		,,,				2504	0.3323				p.P448P		Atlas-SNP	.											GRIN3B,rectum,carcinoma,0,1	GRIN3B	46	1	0			c.T1344C						PASS	.	C		1841,2565	616.7+/-392.8	383,1075,745	51	50	50		1344	-9.2	0	19	dbSNP_111	50	3312,5280	623.5+/-397.5	640,2032,1624	no	coding-synonymous	GRIN3B	NM_138690.1		1023,3107,2369	CC,CT,TT		38.5475,41.7839,39.6446		448/1044	1004844	5153,7845	2203	4296	6499	SO:0001819	synonymous_variant	116444	exon3			GGACCCTGGCACC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1344T>C	19.37:g.1004844T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	47	10	0.212766	NM_138690	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			T|0.639;C|0.361	0.361	strong		0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1004844	T	C	1004844	2	2	23	1	0	0	0	0	0	0	0	1	6784	1567	55	3		3	GRIN3B	19	1004844	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	134	1004844	58124139	4125	20581										
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1005531	1005531	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacaagaccttcgaggagctGtcggggatccacgaccccaa	12	13	0	1	rs12973948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1005531G>C	ENST00000234389.3	+	3	2050	c.2031G>C	c.(2029-2031)ctG>ctC	p.L677L	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	677					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGAGGAGCTGTCGGGGATCC	0.697													g|||	1175	0.234625	0.1293	0.2291	5008	,	,		11122	0.1706		0.3738	False		,,,				2504	0.3037				p.L677L		Atlas-SNP	.											.	GRIN3B	46	.	0			c.G2031C						PASS	.	G		733,3665		74,585,1540	22	22	22		2031	3.3	1	19	dbSNP_121	22	3190,5408		595,2000,1704	no	coding-synonymous	GRIN3B	NM_138690.1		669,2585,3244	CC,CG,GG		37.1017,16.6667,30.1862		677/1044	1005531	3923,9073	2199	4299	6498	SO:0001819	synonymous_variant	116444	exon3			GGAGCTGTCGGGG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2031G>C	19.37:g.1005531G>C		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	95	43	0.452632	NM_138690	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			C|0.264;G|0.736;T|0.000	0.264	strong		0.697	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1005531	G	C	1005531	2	2	23	1	0	0	0	0	0	0	0	1	6784	1364	48	4		4	GRIN3B	19	1005531	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	687	1005531	58123452	4126	20582										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1010406	1010406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaggccgggctaggcccGcctaccgcagcccccagggg	16	16	0	0	rs62131162	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1010406G>A	ENST00000356663.3	-	11	1927	c.1806C>T	c.(1804-1806)ggC>ggT	p.G602G	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	602						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGCTAGGCCCGCCTACCGCAG	0.741													N|||	505	0.100839	0.1278	0.098	5008	,	,		11980	0.001		0.1322	False		,,,				2504	0.137				p.G602G		Atlas-SNP	.											.	.	.	.	0			c.C1806T						PASS	.		,	328,3510		20,288,1611	3	4	4		1806,	-2.6	0	19	dbSNP_129	4	874,6922		40,794,3064	no	coding-synonymous,utr-3	C19orf6	NM_001033026.1,NM_033420.3	,	60,1082,4675	AA,AG,GG		11.2109,8.5461,10.3318	,	602/621,	1010406	1202,10432	1919	3898	5817	SO:0001819	synonymous_variant	91304	exon11			AGGCCCGCCTACC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1806C>T	19.37:g.1010406G>A		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	14	11	0.785714	NM_001033026	O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																			G|0.903;A|0.097	0.097	strong		0.741	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		A	1010406	G	A	1010406	2	1	23	1	0	0	0	0	0	0	0	1	1941	1074	38	1		1	C19orf6	19	1010406	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4875	1010406	58118577	4127	20583										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1012120	1012120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggacatgaggatgtcatcGtagcccaggaactcatccag	11	11	2	1	rs7145	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1012120G>A	ENST00000356663.3	-	5	907	c.786C>T	c.(784-786)taC>taT	p.Y262Y	TMEM259_ENST00000333175.5_Silent_p.Y262Y	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	262						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGATGTCATCGTAGCCCAGGA	0.692													g|||	698	0.139377	0.143	0.1124	5008	,	,		14783	0.0972		0.1561	False		,,,				2504	0.18				p.Y262Y		Atlas-SNP	.											C19orf6,NS,carcinoma,0,1	.	.	1	0			c.C786T						PASS	.	G	,	499,3899	217.4+/-235.8	29,441,1729	34	28	30		786,786	-6.6	0.8	19	dbSNP_52	30	1238,7358	228.9+/-263.8	91,1056,3151	no	coding-synonymous,coding-synonymous	C19orf6	NM_001033026.1,NM_033420.3	,	120,1497,4880	AA,AG,GG		14.402,11.3461,13.3677	,	262/621,262/409	1012120	1737,11257	2199	4298	6497	SO:0001819	synonymous_variant	91304	exon5			GTCATCGTAGCCC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.786C>T	19.37:g.1012120G>A		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	109	44	0.40367	NM_033420	O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																			G|0.868;A|0.132	0.132	strong		0.692	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		A	1012120	G	A	1012120	2	1	23	1	0	0	0	0	0	0	0	1	1941	1140	40	1		1	C19orf6	19	1012120	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1714	1012120	58116863	4128	20584										
C19orf6	91304	hgsc.bcm.edu	37	chr19	1014377	1014377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccacacgcaggatgccctcAcgcggccacttgtcacgcac	9	18	2	0	rs1058506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1014377A>G	ENST00000356663.3	-	2	442	c.321T>C	c.(319-321)cgT>cgC	p.R107R	TMEM259_ENST00000333175.5_Silent_p.R107R	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	107						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGATGCCCTCACGCGGCCACT	0.652													a|||	955	0.190695	0.2315	0.121	5008	,	,		17000	0.1141		0.2028	False		,,,				2504	0.2515				p.R107R		Atlas-SNP	.											C19orf6,NS,carcinoma,-1,2	.	.	2	0			c.T321C						scavenged	.	A	,	836,3568	316.9+/-294.8	72,692,1438	37	36	36		321,321	-8.4	0.1	19	dbSNP_86	36	1523,7075	281.3+/-295.0	146,1231,2922	no	coding-synonymous,coding-synonymous	C19orf6	NM_001033026.1,NM_033420.3	,	218,1923,4360	GG,GA,AA		17.7134,18.9827,18.1434	,	107/621,107/409	1014377	2359,10643	2202	4299	6501	SO:0001819	synonymous_variant	91304	exon2			GCCCTCACGCGGC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.321T>C	19.37:g.1014377A>G		Somatic	202	1	0.00495049		WXS	Illumina HiSeq	Phase_I	125	53	0.424	NM_033420	O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																			A|0.821;G|0.179	0.179	strong		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		G	1014377	A	G	1014377	2	3	23	1	0	0	0	0	0	0	0	1	1941	146	6	2		2	C19orf6	19	1014377	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2257	1014377	58114606	4129	20585										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1079959	1079959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tactaccagatgatgcatatGcagacggcgccgctgcccgt	11	13	0	3	rs36084354	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1079959G>A	ENST00000313093.2	+	13	1776	c.1545G>A	c.(1543-1545)atG>atA	p.M515I	HMHA1_ENST00000590577.1_Missense_Mutation_p.M150I|HMHA1_ENST00000586866.1_Missense_Mutation_p.M519I|HMHA1_ENST00000590214.1_Missense_Mutation_p.M542I|HMHA1_ENST00000539243.2_Missense_Mutation_p.M531I|HMHA1_ENST00000543365.1_Missense_Mutation_p.M398I|HMHA1_ENST00000536472.1_Missense_Mutation_p.M355I	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	515			M -> I (in dbSNP:rs36084354).		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TGATGCATATGCAGACGGCGC	0.682													G|||	146	0.0291534	0.0045	0.0548	5008	,	,		15433	0.0069		0.0855	False		,,,				2504	0.0092				p.M531I		Atlas-SNP	.											HMHA1,NS,carcinoma,0,2	HMHA1	78	2	0			c.G1593A						PASS	.	G	ILE/MET	82,4324	68.1+/-105.8	2,78,2123	74	83	80		1545	4.4	1	19	dbSNP_126	80	706,7894	170.9+/-221.9	37,632,3631	yes	missense	HMHA1	NM_012292.2	10	39,710,5754	AA,AG,GG		8.2093,1.8611,6.0587	benign	515/1137	1079959	788,12218	2203	4300	6503	SO:0001583	missense	23526	exon13			GCATATGCAGACG	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1545G>A	19.37:g.1079959G>A	ENSP00000316772:p.Met515Ile	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	86	52	0.604651	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	95	0.043498168498168496	7	0.014227642276422764	27	0.07458563535911603	4	0.006993006993006993	57	0.07519788918205805	G	17.24	3.339832	0.60963	0.018611	0.082093	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.41	4.41	0.53225	.	0.044760	0.85682	U	0.000000	T	0.02688	0.0081	M	0.66939	2.045	0.54753	D	0.999981	P;B;B;B;B	0.38827	0.649;0.4;0.215;0.4;0.172	B;B;B;B;B	0.35770	0.21;0.173;0.062;0.077;0.035	T	0.01608	-1.1313	10	0.29301	T	0.29	-21.4743	14.4939	0.67670	0.0:0.0:1.0:0.0	rs36084354;rs62131203	355;531;150;398;515	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	I	531;515;515;355;509;398	ENSP00000439601:M531I;ENSP00000316772:M515I;ENSP00000445109:M355I;ENSP00000438979:M398I	ENSP00000316772:M515I	M	+	3	0	HMHA1	1030959	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.741000	0.47426	2.021000	0.59480	0.561000	0.74099	ATG	G|0.948;A|0.052	0.052	strong		0.682	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1079959	G	A	1079959	3	1	23	1	0	0	0	0	1	0	0	0	7240	1319	46	2	1595	2	HMHA1	19	1079959	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	65582	1079959	58049024	4130	20586										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1085993	1085993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgcagggaaaggcagccGgaattcgtgtgagctggggt	17	8	0	1	rs34721728	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1085993G>A	ENST00000313093.2	+	23	3630	c.3399G>A	c.(3397-3399)ccG>ccA	p.P1133P	HMHA1_ENST00000590577.1_Silent_p.P768P|HMHA1_ENST00000586866.1_Silent_p.P1137P|HMHA1_ENST00000590214.1_Silent_p.P1160P|HMHA1_ENST00000539243.2_Silent_p.P1149P|HMHA1_ENST00000543365.1_Silent_p.P1016P|HMHA1_ENST00000536472.1_Silent_p.P1001P|HMHA1_ENST00000591169.1_3'UTR|POLR2E_ENST00000585838.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1133					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		AAAGGCAGCCGGAATTCGTGT	0.647													g|||	80	0.0159744	0.003	0.0346	5008	,	,		13378	0.0		0.0417	False		,,,				2504	0.0102				p.P1149P		Atlas-SNP	.											.	HMHA1	78	.	0			c.G3447A						PASS	.	G		51,4329		0,51,2139	35	37	36		3399	-9.2	0	19	dbSNP_126	36	441,8127		15,411,3858	no	coding-synonymous	HMHA1	NM_012292.2		15,462,5997	AA,AG,GG		5.1471,1.1644,3.7998		1133/1137	1085993	492,12456	2190	4284	6474	SO:0001819	synonymous_variant	23526	exon23			GCAGCCGGAATTC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.3399G>A	19.37:g.1085993G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	105	50	0.47619	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																			G|0.963;A|0.037	0.037	strong		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1085993	G	A	1085993	2	1	23	1	0	0	0	0	0	0	0	1	7240	1103	39	1		1	HMHA1	19	1085993	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6034	1085993	58042990	4131	20587										
SBNO2	22904	hgsc.bcm.edu	37	chr19	1109595	1109595	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaggccgcggtccacgctGatctgccacggcacggggtg	15	14	2	1	rs185032569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1109595G>T	ENST00000361757.3	-	28	3363	c.3126C>A	c.(3124-3126)atC>atA	p.I1042I	SBNO2_ENST00000438103.2_Silent_p.I985I|SBNO2_ENST00000587024.1_Silent_p.I1032I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1042					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)		GGTCCACGCTGATCTGCCACG	0.667													G|||	19	0.00379393	0.0023	0.0014	5008	,	,		6312	0.0		0.0149	False		,,,				2504	0.0				p.I1042I		Atlas-SNP	.											.	SBNO2	112	.	0			c.C3126A						PASS	.	G	,	11,3677		0,11,1833	6	7	6		2955,3126	1.8	1	19		6	81,7945		0,81,3932	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	0,92,5765	TT,TG,GG		1.0092,0.2983,0.7854	,	985/1310,1042/1367	1109595	92,11622	1844	4013	5857	SO:0001819	synonymous_variant	22904	exon28			CACGCTGATCTGC	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		ENST00000361757.3:c.3126C>A	19.37:g.1109595G>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	124	63	0.508065	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																			G|0.995;T|0.005	0.005	strong		0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		T	1109595	G	T	1109595	2	4	23	1	0	0	0	0	0	0	0	1	13863	1280	45	4		4	SBNO2	19	1109595	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23602	1109595	58019388	4132	20588										
RPS15	6209	hgsc.bcm.edu	37	chr19	1440068	1440068	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcggcggcggctgaaccGgggcctgcggcggaagcagc	19	14	0	1	rs201657403		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1440068G>C	ENST00000586686.2	+	3	179	c.140G>C	c.(139-141)cGg>cCg	p.R47P	RPS15_ENST00000589656.2_Missense_Mutation_p.R47P|AC027307.3_ENST00000594262.1_5'Flank|RPS15_ENST00000591032.1_Missense_Mutation_p.R14P|RPS15_ENST00000591804.2_Missense_Mutation_p.R14P|RPS15_ENST00000586096.2_Missense_Mutation_p.R47P|RPS15_ENST00000585665.1_Missense_Mutation_p.R14P|RPS15_ENST00000233609.4_Missense_Mutation_p.R20P|RPS15_ENST00000593052.1_Missense_Mutation_p.R54P			P62841	RS15_HUMAN	ribosomal protein S15	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R47P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGAACCGGGGCCTGCGG	0.687																																					p.R47P	Ovarian(170;79 2680 5719 44260)	Atlas-SNP	.											RPS15,extremity,malignant_melanoma,0,1	RPS15	11	1	1	Substitution - Missense(1)	skin(1)	c.G140C						scavenged	.						3	5	4					19																	1440068		2019	3993	6012	SO:0001583	missense	6209	exon3			TGAACCGGGGCCT		CCDS12067.1	19p13.3	2012-12-20			ENSG00000115268	ENSG00000115268		"S ribosomal proteins"	10388	protein-coding gene	gene with protein product	"40S ribosomal protein S15", "homolog of rat insulinoma", "insulinoma protein"	180535				2159154	Standard	NM_001018		Approved	RIG, MGC111130, S15	uc002lsp.1	P62841	OTTHUMG00000140099	ENST00000586686.2:c.140G>C	19.37:g.1440068G>C	ENSP00000467676:p.Arg47Pro	Somatic	49	1	0.0204082		WXS	Illumina HiSeq	Phase_I	39	7	0.179487	NM_001018	A5D8V9|P11174|Q3KRA1|Q9UDC2	Missense_Mutation	SNP	ENST00000586686.2	37	CCDS12067.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516509	0.27123	.	.	ENSG00000115268	ENST00000233609	.	.	.	4.26	3.21	0.36854	Ribosomal protein S19, superfamily (2);	0.000000	0.64402	U	0.000002	T	0.79452	0.4448	H	0.96489	3.83	0.80722	D	1	B	0.17465	0.022	B	0.26310	0.068	T	0.78595	-0.2143	9	0.51188	T	0.08	-26.4524	11.4241	0.50001	0.0902:0.0:0.9098:0.0	.	47	P62841	RS15_HUMAN	P	47	.	ENSP00000233609:R47P	R	+	2	0	RPS15	1391068	1.000000	0.71417	0.710000	0.30468	0.007000	0.05969	9.198000	0.94994	0.908000	0.36671	-0.192000	0.12808	CGG	G|0.442;C|0.558	0.558	strong		0.687	RPS15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449609.4	NM_001018		C	1440068	G	C	1440068	3	2	23	1	0	0	0	0	1	0	0	0	13625	1116	39	4	150	4	RPS15	19	1440068	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	330473	1440068	57688915	4133	20589										
TCF3	6929	hgsc.bcm.edu	37	chr19	1615393	1615393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttggcacatgcgccccagCtccttaaaggcctcgttgat	10	13	0	1	rs143212973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1615393C>T	ENST00000262965.5	-	18	2057	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E	TCF3_ENST00000395423.3_Silent_p.E575E|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TGCGCCCCAGCTCCTTAAAGG	0.637			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	6	0.00119808	0.0	0.0	5008	,	,		14615	0.0		0.006	False		,,,				2504	0.0				p.E571E		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.G1713A						PASS	.	C	,	12,4394	20.2+/-43.8	0,12,2191	98	97	97		,1713	3.4	1	19	dbSNP_134	97	52,8548	33.8+/-87.4	2,48,4250	no	intron,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	2,60,6441	TT,TC,CC		0.6047,0.2724,0.4921	,	,571/655	1615393	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	6929	exon18			CCCCAGCTCCTTA	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1713G>A	19.37:g.1615393C>T		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	74	37	0.5	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			C|0.997;T|0.003	0.003	strong		0.637	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		T	1615393	C	T	1615393	2	4	23	1	0	0	0	0	0	0	0	1	15691	796	28	2		2	TCF3	19	1615393	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	175325	1615393	57513590	4134	20590										
ATP8B3	148229	hgsc.bcm.edu	37	chr19	1811547	1811547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggccttgtgcctcctctcAggtgcccctctgcctgggga	13	15	2	0	rs12609187	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1811547A>G	ENST00000310127.6	-	2	427	c.189T>C	c.(187-189)ccT>ccC	p.P63P	ATP8B3_ENST00000539485.1_Silent_p.P63P|ATP8B3_ENST00000525591.1_Silent_p.P10P|ATP8B3_ENST00000526092.2_Silent_p.P10P	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	63					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCCTCCTCTCAGGTGCCCCTC	0.642													g|||	4155	0.829673	0.9047	0.853	5008	,	,		15619	0.7758		0.826	False		,,,				2504	0.771				p.P63P		Atlas-SNP	.											.	ATP8B3	108	.	0			c.T189C						PASS	.	G	,	3657,421		1638,381,20	48	57	54		30,189	1.4	0	19	dbSNP_120	54	7008,1336		2931,1146,95	no	coding-synonymous,coding-synonymous	ATP8B3	NM_001178002.1,NM_138813.2	,	4569,1527,115	GG,GA,AA		16.0115,10.3237,14.1443	,	10/1264,63/1301	1811547	10665,1757	2039	4172	6211	SO:0001819	synonymous_variant	148229	exon2			CCTCTCAGGTGCC	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.189T>C	19.37:g.1811547A>G		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	59	57	0.966102	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1	1839	0.842032967032967	460	0.9349593495934959	311	0.8591160220994475	448	0.7832167832167832	620	0.8179419525065963	g	6.120	0.390398	0.11581	0.896763	0.839885	ENSG00000130270	ENST00000533993	.	.	.	2.42	1.37	0.22104	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	5.000000000032756E-6	.	.	.	.	.	.	T	0.14868	-1.0457	3	.	.	.	.	4.6624	0.12648	0.3214:0.0:0.6786:0.0	rs12609187;rs12971336;rs56730608;rs12609187	.	.	.	P	26	.	.	L	-	2	0	ATP8B3	1762547	0.061000	0.20836	0.000000	0.03702	0.001000	0.01503	1.533000	0.36040	0.142000	0.18901	-0.215000	0.12644	CTG	A|0.151;G|0.849	0.849	strong		0.642	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		G	1811547	A	G	1811547	2	3	23	1	0	0	0	0	0	0	0	1	1196	175	7	3		3	ATP8B3	19	1811547	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	196154	1811547	57317436	4135	20591										
ATP8B3	148229	hgsc.bcm.edu	37	chr19	1811603	1811603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgatcaccgtctcacctcCgcggatgccagcaggacctg	10	16	3	1	rs7250872	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1811603C>T	ENST00000310127.6	-	2	371	c.133G>A	c.(133-135)Gga>Aga	p.G45R	ATP8B3_ENST00000539485.1_Missense_Mutation_p.G45R|ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.2_5'UTR	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	45			G -> R (in dbSNP:rs7250872).		binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTCTCACCTCCGCGGATGCCA	0.657													c|||	1984	0.396166	0.5068	0.4481	5008	,	,		14880	0.374		0.3141	False		,,,				2504	0.317				p.G45R		Atlas-SNP	.											.	ATP8B3	108	.	0			c.G133A						PASS	.	C	,ARG/GLY	1898,2254		457,984,635	53	61	58	http://www.ncbi.nlm.nih.gov/pubmed?term	,133	1.4	0	19	dbSNP_116	58	2506,5894		375,1756,2069	yes	utr-5,missense	ATP8B3	NM_001178002.1,NM_138813.2	,125	832,2740,2704	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	29.8333,45.7129,35.086	,probably-damaging	,45/1301	1811603	4404,8148	2076	4200	6276	SO:0001583	missense	148229	exon2			CACCTCCGCGGAT	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.133G>A	19.37:g.1811603C>T	ENSP00000311336:p.Gly45Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	56	35	0.625	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	859	0.3933150183150183	246	0.5	149	0.4116022099447514	221	0.38636363636363635	243	0.32058047493403696	c	13.83	2.353566	0.41700	0.457129	0.298333	ENSG00000130270	ENST00000310127;ENST00000539485	T;T	0.74421	-0.84;-0.84	2.42	1.37	0.22104	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.15473	0.013	B	0.08055	0.003	T	0.40869	-0.9540	8	0.51188	T	0.08	.	5.1659	0.15084	0.0:0.8303:0.0:0.1697	rs7250872;rs12985801;rs16990936;rs58934279;rs7250872	45	O60423	AT8B3_HUMAN	R	45	ENSP00000311336:G45R;ENSP00000443574:G45R	ENSP00000311336:G45R	G	-	1	0	ATP8B3	1762603	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.497000	0.06428	0.589000	0.29677	-0.258000	0.10820	GGA	C|0.614;T|0.386	0.386	strong		0.657	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1811603	C	T	1811603	3	4	23	1	0	0	0	0	1	0	0	0	1196	661	23	1	3929	1	ATP8B3	19	1811603	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	56	1811603	57317380	4136	20592										
REXO1	57455	hgsc.bcm.edu	37	chr19	1819125	1819125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacacaaccctgcggccacTggtttctggaaggaagggag	15	10	1	0	rs2396359	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1819125T>C	ENST00000170168.4	-	8	2750	c.2656A>G	c.(2656-2658)Agt>Ggt	p.S886G	MIR1909_ENST00000411312.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	886			S -> G (in dbSNP:rs2396359). {ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTGCGGCCACTGGTTTCTGGA	0.672													.|||	1907	0.380791	0.5802	0.4207	5008	,	,		12655	0.3819		0.2097	False		,,,				2504	0.2577				p.S886G		Atlas-SNP	.											REXO1,NS,carcinoma,0,1	REXO1	55	1	0			c.A2656G						PASS	.	T	GLY/SER	2323,2079		630,1063,508	25	29	28		2656	1.9	0.4	19	dbSNP_100	28	1844,6748		200,1444,2652	yes	missense	REXO1	NM_020695.3	56	830,2507,3160	CC,CT,TT		21.4618,47.2285,32.0686	benign	886/1222	1819125	4167,8827	2201	4296	6497	SO:0001583	missense	57455	exon8			GGCCACTGGTTTC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2656A>G	19.37:g.1819125T>C	ENSP00000170168:p.Ser886Gly	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	168	78	0.464286	NM_020695	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	800	0.3663003663003663	287	0.5833333333333334	135	0.3729281767955801	224	0.3916083916083916	154	0.20316622691292877	T	9.016	0.983646	0.18889	0.527715	0.214618	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.13778	2.56	3.98	1.86	0.25419	.	0.272384	0.33075	U	0.005318	T	0.00012	0.0000	N	0.17082	0.46	0.37150	P	0.09788699999999995	B;B	0.22276	0.005;0.067	B;B	0.16722	0.004;0.016	T	0.35001	-0.9806	9	0.36615	T	0.2	-8.8227	6.6073	0.22731	0.0:0.1987:0.0:0.8013	rs2396359;rs11537979;rs17853032;rs2396359	195;886	B4DWY3;Q8N1G1	.;REXO1_HUMAN	G	886;158	ENSP00000170168:S886G	ENSP00000170168:S886G	S	-	1	0	REXO1	1770125	0.620000	0.27068	0.435000	0.26784	0.448000	0.32197	0.966000	0.29331	0.214000	0.20742	0.459000	0.35465	AGT	T|0.668;C|0.332	0.332	strong		0.672	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		C	1819125	T	C	1819125	3	2	23	1	0	0	0	0	1	0	0	0	13241	1580	55	3	1045	3	REXO1	19	1819125	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7522	1819125	57309858	4137	20593										
REXO1	57455	hgsc.bcm.edu	37	chr19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccccttctcctcactcttCtcttccttggggggctaaga					rs149465929|rs75443592|rs199696044	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495				p.642_643del		Pindel,Atlas-Indel	.											.	REXO1	55	.	0			c.1925_1927del						PASS	.			1300,2964		203,894,1035						3.2	0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				SO:0001651	inframe_deletion	57455	exon3			.	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del	Somatic	189	.	.		WXS	Illumina HiSeq	Phase_I	186	56	0.301	NM_020695	Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	CCDS32866.1																																																																																			CTC|0.704;-|0.296	0.296	strong		0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		-	1825930	CTC	-	1825928	7	5	23	1	0	1	0	1	0	0	0	0	13241	912	32	0	1795	0	REXO1	19	1825928	In_Frame_Del	DEL	CTC	TCGA-GR-7353-01A-11D-2210-10	6803	1825928	57303055	4138	20594										
REXO1	57455	hgsc.bcm.edu	37	chr19	1827565	1827565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtccgcacggggcttctccAcaggccgccctcggcccttg	12	18	1	0	rs10415018	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1827565A>G	ENST00000170168.4	-	2	1317	c.1223T>C	c.(1222-1224)gTg>gCg	p.V408A	REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	408			V -> A (in dbSNP:rs10415018).			nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGGCTTCTCCACAGGCCGCCC	0.662													.|||	1236	0.246805	0.3669	0.3458	5008	,	,		13078	0.2629		0.1054	False		,,,				2504	0.1431				p.V408A		Atlas-SNP	.											REXO1,NS,carcinoma,0,1	REXO1	55	1	0			c.T1223C						PASS	.	G	ALA/VAL	1444,2932		232,980,976	15	17	17		1223	-0.9	0	19	dbSNP_119	17	857,7703		47,763,3470	no	missense	REXO1	NM_020695.3	64	279,1743,4446	GG,GA,AA		10.0117,32.9982,17.7876	benign	408/1222	1827565	2301,10635	2188	4280	6468	SO:0001583	missense	57455	exon2			TTCTCCACAGGCC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1223T>C	19.37:g.1827565A>G	ENSP00000170168:p.Val408Ala	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	51	10	0.196078	NM_020695	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	534	0.2445054945054945	196	0.3983739837398374	107	0.2955801104972376	158	0.2762237762237762	73	0.09630606860158311	G	0.006	-2.052309	0.00394	0.329982	0.100117	ENSG00000079313	ENST00000170168	T	0.10860	2.83	3.97	-0.92	0.10475	.	1.467800	0.03856	N	0.273126	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45629	-0.9248	9	0.08599	T	0.76	1.2749	0.6493	0.00824	0.2097:0.2826:0.2637:0.2441	rs10415018;rs10415018	408	Q8N1G1	REXO1_HUMAN	A	408	ENSP00000170168:V408A	ENSP00000170168:V408A	V	-	2	0	REXO1	1778565	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.507000	0.06352	-0.526000	0.06383	-1.272000	0.01410	GTG	A|0.781;G|0.219	0.219	strong		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		G	1827565	A	G	1827565	3	3	23	1	0	0	0	0	1	0	0	0	13241	159	6	2	2502	2	REXO1	19	1827565	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1637	1827565	57301418	4139	20595										
REXO1	57455	hgsc.bcm.edu	37	chr19	1827927	1827927	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggcctcatcttctgagtcTgagaaccttgcatcgcaact	9	13	4	2	rs144940979	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1827927T>G	ENST00000170168.4	-	2	955	c.861A>C	c.(859-861)tcA>tcC	p.S287S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	287						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTTCTGAGTCTGAGAACCTTG	0.672													.|||	3	0.000599042	0.0	0.0	5008	,	,		13621	0.0		0.003	False		,,,				2504	0.0				p.S287S		Atlas-SNP	.											.	REXO1	55	.	0			c.A861C						PASS	.	T		0,4404		0,0,2202	41	44	43		861	-8.3	0.1	19	dbSNP_134	43	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	REXO1	NM_020695.3		0,14,6488	GG,GT,TT		0.1628,0.0,0.1077		287/1222	1827927	14,12990	2202	4300	6502	SO:0001819	synonymous_variant	57455	exon2			TGAGTCTGAGAAC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.861A>C	19.37:g.1827927T>G		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	138	71	0.514493	NM_020695	Q9ULT2	Silent	SNP	ENST00000170168.4	37	CCDS32866.1																																																																																			T|0.999;G|0.001	0.001	strong		0.672	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		G	1827927	T	G	1827927	2	3	23	1	0	0	0	0	0	0	0	1	13241	1567	55	5		5	REXO1	19	1827927	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	362	1827927	57301056	4140	20596										
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1880950	1880950	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccctgtgccccagctctTgcccagcaggcaaccaccag	9	19	1	0	rs4807160	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1880950T>C	ENST00000292577.7	-	2	766				ABHD17A_ENST00000590661.1_Intron|ABHD17A_ENST00000250974.9_Missense_Mutation_p.K144E	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A							extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CCCCAGCTCTTGCCCAGCAGG	0.657													N|||	3160	0.63099	0.6241	0.6686	5008	,	,		16727	0.5913		0.6243	False		,,,				2504	0.6616				p.K144E		Atlas-SNP	.											FAM108A1,NS,carcinoma,0,1	FAM108A1	29	1	0			c.A430G						PASS	.	C	,GLU/LYS	2846,1556		908,1030,263	31	37	35		,430	-4.9	0	19	dbSNP_111	35	5388,3210		1692,2004,603	yes	intron,missense	FAM108A1	NM_001130111.1,NM_031213.3	,56	2600,3034,866	CC,CT,TT		37.3343,35.3476,36.6615	,	,144/362	1880950	8234,4766	2201	4299	6500	SO:0001627	intron_variant	81926	exon3			AGCTCTTGCCCAG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.332+283A>G	19.37:g.1880950T>C		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	119	55	0.462185	NM_031213	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	1370	0.6272893772893773	311	0.6321138211382114	246	0.6795580110497238	348	0.6083916083916084	465	0.6134564643799473	-	0.034	-1.315169	0.01331	0.646524	0.626657	ENSG00000129968	ENST00000250974	T	0.30448	1.53	2.47	-4.94	0.03057	.	9.963510	0.00357	N	0.000036	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	8	0.06236	T	0.91	.	6.6701	0.23064	0.0:0.2997:0.1519:0.5483	rs4807160;rs17856603;rs56812054	144	Q96GS6-2	.	E	144	ENSP00000250974:K144E	ENSP00000250974:K144E	K	-	1	0	FAM108A1	1831950	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.878000	0.04192	-1.995000	0.00971	-0.231000	0.12243	AAG	T|0.372;C|0.628	0.628	strong		0.657	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		C	1880950	T	C	1880950	1	2	23	0	1	0	0	0	0	0	0	0	5391	1821	63	2		2	FAM108A1	19	1880950	Intron	SNP	T	TCGA-GR-7353-01A-11D-2210-10	53023	1880950	57248033	4141	20597										
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912934	1912934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctcccctacctgtgcacTggctacgacctgtacgtgac	10	16	0	1	rs12984675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:1912934T>C	ENST00000602400.1	+	2	1068	c.840T>C	c.(838-840)acT>acC	p.T280T	SCAMP4_ENST00000414057.2_Intron|ADAT3_ENST00000329478.2_Silent_p.T296T|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	280					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		ACCTGTGCACTGGCTACGACC	0.726													C|||	1819	0.363219	0.4803	0.4193	5008	,	,		11860	0.4038		0.2048	False		,,,				2504	0.2863				p.T296T		Atlas-SNP	.											.	ADAT3	15	.	0			c.T888C						PASS	.	C	,	1904,2498	591.8+/-387.6	426,1052,723	57	52	54		,840	-6.8	0.5	19	dbSNP_121	54	1294,7292	728.8+/-406.7	102,1090,3101	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	528,2142,3824	CC,CT,TT		15.071,43.2531,24.6227	,	,280/352	1912934	3198,9790	2201	4293	6494	SO:0001819	synonymous_variant	113179	exon2			GTGCACTGGCTAC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.840T>C	19.37:g.1912934T>C		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	22	10	0.454545	NM_138422		Silent	SNP	ENST00000602400.1	37																																																																																				T|0.727;C|0.273	0.273	strong		0.726	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		C	1912934	T	C	1912934	2	2	23	1	0	0	0	0	0	0	0	1	286	1567	55	3		3	ADAT3	19	1912934	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	31984	1912934	57216049	4142	20598										
MOBKL2A	126308	hgsc.bcm.edu	37	chr19	2078176	2078176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtcctcgttgttgatctgCgcctcgatccagtccatcag	10	13	2	1	rs35452475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2078176C>T	ENST00000357066.3	-	3	763	c.384G>A	c.(382-384)gcG>gcA	p.A128A	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Silent_p.A128A	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	128						intracellular (GO:0005622)	metal ion binding (GO:0046872)										TGTTGATCTGCGCCTCGATCC	0.597													C|||	173	0.0345447	0.0023	0.0274	5008	,	,		17349	0.001		0.0616	False		,,,				2504	0.09				p.A128A		Atlas-SNP	.											MOBKL2A,caecum,carcinoma,-1,1	.	.	1	0			c.G384A						PASS	.	C		64,4342	57.4+/-93.9	1,62,2140	72	53	59		384	-4.4	0.4	19	dbSNP_126	59	573,8027	154.6+/-208.8	16,541,3743	no	coding-synonymous	MOB3A	NM_130807.2		17,603,5883	TT,TC,CC		6.6628,1.4526,4.8977		128/218	2078176	637,12369	2203	4300	6503	SO:0001819	synonymous_variant	126308	exon3			GATCTGCGCCTCG	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.384G>A	19.37:g.2078176C>T		Somatic	302	1	0.00331126		WXS	Illumina HiSeq	Phase_I	267	267	1	NM_130807	B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	CCDS12081.1																																																																																			C|0.956;T|0.044	0.044	strong		0.597	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		T	2078176	C	T	2078176	2	4	23	1	0	0	0	0	0	0	0	1	9684	755	27	1		1	MOBKL2A	19	2078176	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	165242	2078176	57050807	4143	20599										
AP3D1	8943	hgsc.bcm.edu	37	chr19	2110746	2110746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggggacgccatcgtggacGgaggagccctgcggccgggc	19	13	0	0	rs20567	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2110746G>A	ENST00000345016.5	-	25	3180	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S	AP3D1_ENST00000356926.4_Silent_p.S942S|AP3D1_ENST00000350812.6_Silent_p.S814S|AP3D1_ENST00000355272.6_Silent_p.S1045S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	983					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTGGACGGAGGAGCCCT	0.672													A|||	1628	0.32508	0.4879	0.2075	5008	,	,		16934	0.3333		0.1968	False		,,,				2504	0.3119				p.S1045S		Atlas-SNP	.											.	AP3D1	81	.	0			c.C3135T						PASS	.	A	,	1968,2386		426,1116,635	22	28	26		2826,2949	-9.6	0	19	dbSNP_67	26	1888,6670		219,1450,2610	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	645,2566,3245	AA,AG,GG		22.0612,45.1998,29.8637	,	942/1113,983/1154	2110746	3856,9056	2177	4279	6456	SO:0001819	synonymous_variant	8943	exon27			GTGGACGGAGGAG	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2949C>T	19.37:g.2110746G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	115	55	0.478261	NM_001261826	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	CCDS42459.1																																																																																			G|0.672;N|0.000	.	strong		0.672	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			A	2110746	G	A	2110746	2	1	23	1	0	0	0	0	0	0	0	1	746	1103	39	1		1	AP3D1	19	2110746	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32570	2110746	57018237	4144	20600										
AP3D1	8943	hgsc.bcm.edu	37	chr19	2116649	2116649	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccgacggccggtgcttgggAcgccgctgctcctcctcgtg	14	16	0	0	rs2074960	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2116649A>G	ENST00000345016.5	-	17	2187	c.1956T>C	c.(1954-1956)cgT>cgC	p.R652R	AP3D1_ENST00000356926.4_Silent_p.R561R|AP3D1_ENST00000350812.6_Silent_p.R483R|AP3D1_ENST00000355272.6_Silent_p.R652R	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	652					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGGGACGCCGCTGCT	0.692													G|||	818	0.163339	0.1301	0.1311	5008	,	,		16167	0.1944		0.17	False		,,,				2504	0.1922				p.R652R		Atlas-SNP	.											AP3D1,NS,carcinoma,-1,1	AP3D1	81	1	0			c.T1956C						scavenged	.	G	,	566,3642		35,496,1573	23	25	24		1683,1956	-10.3	0	19	dbSNP_96	24	1647,6805		167,1313,2746	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	202,1809,4319	GG,GA,AA		19.4865,13.4506,17.4803	,	561/1113,652/1154	2116649	2213,10447	2104	4226	6330	SO:0001819	synonymous_variant	8943	exon17			CTTGGGACGCCGC	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1956T>C	19.37:g.2116649A>G		Somatic	105	1	0.00952381		WXS	Illumina HiSeq	Phase_I	77	29	0.376623	NM_001261826	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	CCDS42459.1																																																																																			A|0.834;G|0.166	0.166	strong		0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			G	2116649	A	G	2116649	2	3	23	1	0	0	0	0	0	0	0	1	746	262	10	2		2	AP3D1	19	2116649	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	5903	2116649	57012334	4145	20601										
AP3D1	8943	hgsc.bcm.edu	37	chr19	2138654	2138654	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgcgttcgccttcaccgcTatgttgtcctgcttcagctc	8	16	2	0	rs25672	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2138654T>G	ENST00000345016.5	-	2	387	c.156A>C	c.(154-156)atA>atC	p.I52I	AP3D1_ENST00000356926.4_Silent_p.I52I|AP3D1_ENST00000350812.6_Silent_p.I52I|AP3D1_ENST00000355272.6_Silent_p.I52I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	52					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCACCGCTATGTTGTCCT	0.522													G|||	1184	0.236422	0.1127	0.2911	5008	,	,		21431	0.1994		0.4453	False		,,,				2504	0.1881				p.I52I		Atlas-SNP	.											.	AP3D1	81	.	0			c.A156C						PASS	.	G	,	708,3638		83,542,1548	150	152	151		156,156	-3.4	0.6	19	dbSNP_72	151	3636,4882		782,2072,1405	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	865,2614,2953	GG,GT,TT		42.6861,16.2908,33.7687	,	52/1113,52/1154	2138654	4344,8520	2173	4259	6432	SO:0001819	synonymous_variant	8943	exon2			CACCGCTATGTTG	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.156A>C	19.37:g.2138654T>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	70	43	0.614286	NM_001261826	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	CCDS42459.1																																																																																			T|0.695;G|0.304;N|0.000;A|0.000	0.304	strong		0.522	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			G	2138654	T	G	2138654	2	3	23	1	0	0	0	0	0	0	0	1	746	1512	53	5		5	AP3D1	19	2138654	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22005	2138654	56990329	4146	20602										
SF3A2	8175	hgsc.bcm.edu	37	chr19	2248152	2248153	+	In_Frame_Ins	INS	-	-	GGAGTCCACCCTCCAGCCCCC													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtccaccccccagctcctINSggagtccaccctccagcccc					rs59267791|rs539335935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2248152_2248153insGGAGTCCACCCTCCAGCCCCC	ENST00000221494.5	+	9	1420_1421	c.1002_1003insGGAGTCCACCCTCCAGCCCCC	c.(1003-1005)gga>GGAGTCCACCCTCCAGCCCCCgga	p.335_335G>GVHPPAPG	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	335	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCCAGCTCCTGGAGTCCACCC	0.733																																					p.P334delinsPGVHPPAP		Pindel	.											SF3A2,colon,carcinoma,0,1	SF3A2	22	1	0			c.1002_1003insGGAGTCCACCCTCCAGCCCCC						PASS	.																																			SO:0001652	inframe_insertion	8175	exon9			.	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1003_1023dupGGAGTCCACCCTCCAGCCCCC	19.37:g.2248152_2248153insGGAGTCCACCCTCCAGCCCCC	ENSP00000221494:p.ValHisProProAlaProGly363dup	Somatic	28	.	.		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_007165	B2RBU1|D6W605|O75245	In_Frame_Ins	INS	ENST00000221494.5	37	CCDS12084.1																																																																																			.	.	none		0.733	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			GGAGTCCACCCTCCAGCCCCC	2248153	-	GGAGTCCACCCTCCAGCCCCC	2248152	7	5	23	1	0	1	1	0	0	0	0	0	14147	1567	55	0	1032	0	SF3A2	19	2248152	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	109498	2248152	56880831	4147	20603										
SF3A2	8175	hgsc.bcm.edu	37	chr19	2248185	2248185	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagcccccggggttcacccAccagcccccggagtccaccc	9	23	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2248185A>T	ENST00000221494.5	+	9	1453	c.1035A>T	c.(1033-1035)ccA>ccT	p.P345P	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	345	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		GGGTTCACCCACCAGCCCCCG	0.741																																					p.P345P		Atlas-SNP	.											SF3A2,colon,carcinoma,0,1	SF3A2	22	1	0			c.A1035T						scavenged	.						2	3	3					19																	2248185		1454	3177	4631	SO:0001819	synonymous_variant	8175	exon9			TCACCCACCAGCC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1035A>T	19.37:g.2248185A>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	15	10	0.666667	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.	.	none		0.741	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			T	2248185	A	T	2248185	2	4	23	1	0	0	0	0	0	0	0	1	14147	146	6	5		5	SF3A2	19	2248185	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	33	2248185	56880798	4148	20604										
JSRP1	126306	hgsc.bcm.edu	37	chr19	2252990	2252990	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgcttggagtgctgcctccCcagggacggcgtctgcagcg	16	13	1	0	rs80043033	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2252990C>G	ENST00000300961.6	-	6	513	c.449G>C	c.(448-450)gGg>gCg	p.G150A	JSRP1_ENST00000586471.2_Missense_Mutation_p.G150A|MIR4321_ENST00000592276.1_RNA	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	150	Pro-rich.		G -> A (polymorphism affecting excitation/contraction coupling in muscle fibers; the sensitivity of CACNA1S voltage sensor is shifted to higher depolarizing voltages in cells carrying this variant; dbSNP:rs80043033). {ECO:0000269|PubMed:22927026}.		protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		TGCTGCCTCCCCAGGGACGGC	0.692													C|||	899	0.179513	0.0091	0.1916	5008	,	,		13576	0.3234		0.2376	False		,,,				2504	0.1933				p.G150A		Atlas-SNP	.											.	JSRP1	18	.	0			c.G449C						PASS	.	C	ALA/GLY	182,4192		3,176,2008	23	22	22		449	2.7	0	19	dbSNP_131	22	1727,6863		177,1373,2745	no	missense	JSRP1	NM_144616.3	60	180,1549,4753	GG,GC,CC		20.1048,4.161,14.7254	probably-damaging	150/332	2252990	1909,11055	2187	4295	6482	SO:0001583	missense	126306	exon6			GCCTCCCCAGGGA	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.449G>C	19.37:g.2252990C>G	ENSP00000300961:p.Gly150Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_144616		Missense_Mutation	SNP	ENST00000300961.6	37	CCDS12086.1	437	0.2000915750915751	5	0.01016260162601626	68	0.1878453038674033	188	0.32867132867132864	176	0.23218997361477572	C	15.49	2.849180	0.51270	0.04161	0.201048	ENSG00000167476	ENST00000300961	T	0.59083	0.29	3.88	2.73	0.32206	.	0.642264	0.13741	N	0.365988	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	P	0.36199	0.543	B	0.37387	0.248	T	0.29243	-1.0018	9	0.18276	T	0.48	-30.0495	8.7648	0.34696	0.0:0.767:0.233:0.0	.	150	Q96MG2	JSPR1_HUMAN	A	150	ENSP00000300961:G150A	ENSP00000300961:G150A	G	-	2	0	JSRP1	2203990	0.009000	0.17119	0.007000	0.13788	0.007000	0.05969	1.062000	0.30555	2.169000	0.68431	0.561000	0.74099	GGG	C|0.842;G|0.158	0.158	strong		0.692	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		G	2252990	C	G	2252990	3	3	23	1	0	0	0	0	1	0	0	0	7966	623	22	4	554	4	JSRP1	19	2252990	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4805	2252990	56875993	4149	20605										
ZNF555	148254	hgsc.bcm.edu	37	chr19	2852744	2852744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcacactgctgagaaaacCtacgaatgtaagcaatgtgg	9	8	1	1	rs35627030	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2852744C>T	ENST00000334241.4	+	4	819	c.681C>T	c.(679-681)acC>acT	p.T227T	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.T226T	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTGAGAAAACCTACGAATGTA	0.423													C|||	358	0.0714856	0.0628	0.0706	5008	,	,		23853	0.0		0.1471	False		,,,				2504	0.0798				p.T227T		Atlas-SNP	.											.	ZNF555	61	.	0			c.C681T						PASS	.	C	,	340,4066	178.7+/-207.4	14,312,1877	102	90	94		678,681	-0.2	0	19	dbSNP_126	94	1177,7423	239.9+/-270.8	77,1023,3200	no	coding-synonymous,coding-synonymous	ZNF555	NM_001172775.1,NM_152791.4	,	91,1335,5077	TT,TC,CC		13.686,7.7167,11.6638	,	226/628,227/629	2852744	1517,11489	2203	4300	6503	SO:0001819	synonymous_variant	148254	exon4			GAAAACCTACGAA	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.681C>T	19.37:g.2852744C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	68	29	0.426471	NM_152791	A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	ENST00000334241.4	37	CCDS12096.1																																																																																			C|0.893;T|0.107	0.107	strong		0.423	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		T	2852744	C	T	2852744	2	4	23	1	0	0	0	0	0	0	0	1	17983	668	24	2		2	ZNF555	19	2852744	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	599754	2852744	56276239	4150	20606										
ZNF556	80032	hgsc.bcm.edu	37	chr19	2877426	2877426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagtgtggaaaactcttcaCccattcctcatccctgataa	5	13	4	1	rs34849844	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:2877426C>T	ENST00000307635.2	+	4	557	c.470C>T	c.(469-471)aCc>aTc	p.T157I	ZNF556_ENST00000586426.1_Missense_Mutation_p.T156I	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	157					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(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AAACTCTTCACCCATTCCTCA	0.423													C|||	33	0.00658946	0.0015	0.0101	5008	,	,		20726	0.001		0.0159	False		,,,				2504	0.0072				p.T157I		Atlas-SNP	.											.	ZNF556	73	.	0			c.C470T						PASS	.	C	ILE/THR	15,4391	22.3+/-47.3	0,15,2188	136	123	127		470	-0.3	0	19	dbSNP_126	127	157,8443	74.8+/-137.4	3,151,4146	yes	missense	ZNF556	NM_024967.1	89	3,166,6334	TT,TC,CC		1.8256,0.3404,1.3225	benign	157/457	2877426	172,12834	2203	4300	6503	SO:0001583	missense	80032	exon4			TCTTCACCCATTC	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.470C>T	19.37:g.2877426C>T	ENSP00000302603:p.Thr157Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	65	36	0.553846	NM_024967	Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	15	0.006868131868131868	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	9	0.011873350923482849	C	8.841	0.942299	0.18281	0.003404	0.018256	ENSG00000172000	ENST00000307635	T	0.28666	1.6	2.27	-0.272	0.12919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	L	0.35487	1.065	0.09310	N	1	B	0.30068	0.267	B	0.24541	0.054	T	0.14924	-1.0455	9	0.44086	T	0.13	.	5.1815	0.15161	0.1587:0.4899:0.3514:0.0	rs34849844;rs62126859	157	Q9HAH1	ZN556_HUMAN	I	157	ENSP00000302603:T157I	ENSP00000302603:T157I	T	+	2	0	ZNF556	2828426	0.000000	0.05858	0.004000	0.12327	0.205000	0.24178	-3.911000	0.00336	0.139000	0.18822	0.407000	0.27541	ACC	C|0.987;T|0.013	0.013	strong		0.423	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		T	2877426	C	T	2877426	3	4	23	1	0	0	0	0	1	0	0	0	17984	507	18	2	484	2	ZNF556	19	2877426	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24682	2877426	56251557	4151	20607										
S1PR4	8698	hgsc.bcm.edu	37	chr19	3179021	3179021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaccagccacatgcggtcGcgacgctgggtctactattg	11	13	2	0	rs34728133	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3179021G>A	ENST00000246115.3	+	1	286	c.231G>A	c.(229-231)tcG>tcA	p.S77S	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	77					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACATGCGGTCGCGACGCTGGG	0.697													G|||	145	0.0289537	0.0008	0.0274	5008	,	,		13552	0.0		0.0984	False		,,,				2504	0.0266				p.S77S	GBM(82;318 1638 33279 49708)	Atlas-SNP	.											.	S1PR4	31	.	0			c.G231A						PASS	.	G		64,4322		2,60,2131	12	12	12		231	-7.5	0	19	dbSNP_126	12	718,7860		32,654,3603	no	coding-synonymous	S1PR4	NM_003775.3		34,714,5734	AA,AG,GG		8.3702,1.4592,6.0321		77/385	3179021	782,12182	2193	4289	6482	SO:0001819	synonymous_variant	8698	exon1			GCGGTCGCGACGC	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.231G>A	19.37:g.3179021G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	35	21	0.6	NM_003775	D6W612	Silent	SNP	ENST00000246115.3	37	CCDS12105.1																																																																																			G|0.953;A|0.047	0.047	strong		0.697	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		A	3179021	G	A	3179021	2	1	23	1	0	0	0	0	0	0	0	1	13796	1074	38	1		1	S1PR4	19	3179021	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	301595	3179021	55949962	4152	20608										
TBXA2R	6915	hgsc.bcm.edu	37	chr19	3595923	3595923	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcgcagcactgtctgggcGatgaagacctgcaaagggga	14	9	1	2	rs1131882	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3595923G>A	ENST00000375190.4	-	3	1188	c.795C>T	c.(793-795)atC>atT	p.I265I	TBXA2R_ENST00000411851.3_Silent_p.I265I|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R136C|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	265					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.I265I(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CTGTCTGGGCGATGAAGACCT	0.697													G|||	1175	0.234625	0.0401	0.2795	5008	,	,		8200	0.5883		0.1471	False		,,,				2504	0.1912				p.I265I		Atlas-SNP	.											TBXA2R,NS,carcinoma,0,1	TBXA2R	31	1	1	Substitution - coding silent(1)	prostate(1)	c.C795T	GRCh37	CM022851	TBXA2R	M	rs1131882	PASS	.	G	,	226,3866		3,220,1823	11	12	12		795,795	-0.8	0.8	19	dbSNP_86	12	1276,7068		105,1066,3001	no	coding-synonymous,coding-synonymous	TBXA2R	NM_001060.5,NM_201636.2	,	108,1286,4824	AA,AG,GG		15.2924,5.523,12.0778	,	265/344,265/408	3595923	1502,10934	2046	4172	6218	SO:0001819	synonymous_variant	6915	exon3			CTGGGCGATGAAG		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.795C>T	19.37:g.3595923G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	73	46	0.630137	NM_201636	O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	CCDS42467.1																																																																																			G|0.733;A|0.267	0.267	strong		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			A	3595923	G	A	3595923	2	1	23	1	0	0	0	0	0	0	0	1	15660	1048	37	1		1	TBXA2R	19	3595923	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	416902	3595923	55533060	4153	20609										
C19orf29	58509	hgsc.bcm.edu	37	chr19	3611972	3611972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccacagctggaagatgccGttggcaaactggcagcggaa	13	10	0	1	rs2158935	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3611972G>A	ENST00000429344.2	-	10	2278	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	CACTIN_ENST00000221899.3_Silent_p.N674N|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.N742N	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	742					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGAAGATGCCGTTGGCAAACT	0.637													G|||	2169	0.433107	0.3033	0.6066	5008	,	,		18889	0.3313		0.5805	False		,,,				2504	0.4387				p.N742N		Atlas-SNP	.											.	.	.	.	0			c.C2226T						PASS	.	G	,	1459,2595		245,969,813	62	72	69		2226,2226	-3.2	1	19	dbSNP_96	69	4755,3579		1343,2069,755	no	coding-synonymous,coding-synonymous	C19orf29	NM_001080543.1,NM_021231.1	,	1588,3038,1568	AA,AG,GG		42.9446,35.9891,49.8386	,	742/759,742/759	3611972	6214,6174	2027	4167	6194	SO:0001819	synonymous_variant	58509	exon10			GATGCCGTTGGCA	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2226C>T	19.37:g.3611972G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	106	57	0.537736	NM_021231	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	CCDS45920.1	1005	0.46016483516483514	155	0.3150406504065041	220	0.6077348066298343	189	0.3304195804195804	441	0.5817941952506597	G	13.87	2.366515	0.41902	0.359891	0.570554	ENSG00000226800	ENST00000447295	.	.	.	4.3	-3.21	0.05140	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999882838	.	.	.	.	.	.	T	0.43556	-0.9384	4	0.09338	T	0.73	.	6.3668	0.21459	0.6301:0.1558:0.2141:0.0	rs2158935;rs58676824;rs2158935	.	.	.	I	82	.	ENSP00000412459:V82I	V	+	1	0	C19orf29OS	3562972	0.043000	0.20138	0.988000	0.46212	0.980000	0.70556	-0.748000	0.04818	-0.334000	0.08463	0.637000	0.83480	GTT	G|0.545;A|0.455	0.455	strong		0.637	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			A	3611972	G	A	3611972	2	1	23	1	0	0	0	0	0	0	0	1	1918	1136	40	1		1	C19orf29	19	3611972	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16049	3611972	55517011	4154	20610										
PIP5K1C	23396	hgsc.bcm.edu	37	chr19	3633473	3633473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggccgggggggcctgggCgctatagtggagcggggagt	24	7	0	0	rs35014191	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3633473C>T	ENST00000335312.3	-	17	2054	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PIP5K1C_ENST00000539785.1_Intron	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	656	Mediates interaction with TLN2.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGGCCTGGGCGCTATAGTGG	0.701													C|||	34	0.00678914	0.0129	0.0058	5008	,	,		11951	0.0		0.006	False		,,,				2504	0.0072				p.A656T	Esophageal Squamous(135;99 1744 12852 27186 39851)	Atlas-SNP	.											PIP5K1C_ENST00000335312,NS,carcinoma,+1,1	PIP5K1C	63	1	0			c.G1966A						PASS	.	C	,THR/ALA	21,4373		0,21,2176	17	22	20		,1966	-6.2	0.2	19	dbSNP_126	20	101,8487		0,101,4193	no	intron,missense	PIP5K1C	NM_001195733.1,NM_012398.2	,58	0,122,6369	TT,TC,CC		1.1761,0.4779,0.9398	,benign	,656/669	3633473	122,12860	2197	4294	6491	SO:0001583	missense	23396	exon17			CCTGGGCGCTATA	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1966G>A	19.37:g.3633473C>T	ENSP00000335333:p.Ala656Thr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	95	53	0.557895	NM_012398	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	12	0.005494505494505495	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	6.504	0.461201	0.12342	0.004779	0.011761	ENSG00000186111	ENST00000335312	T	0.25912	1.77	3.39	-6.18	0.02085	.	0.500976	0.17660	N	0.166351	T	0.05227	0.0139	N	0.03608	-0.345	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	10	0.07813	T	0.8	-8.2929	12.3675	0.55236	0.0:0.2685:0.0:0.7315	rs35014191	656	O60331	PI51C_HUMAN	T	656	ENSP00000335333:A656T	ENSP00000335333:A656T	A	-	1	0	PIP5K1C	3584473	0.551000	0.26497	0.185000	0.23176	0.746000	0.42486	-0.496000	0.06436	-1.205000	0.02645	-0.657000	0.03884	GCC	C|0.992;T|0.008	0.008	strong		0.701	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		T	3633473	C	T	3633473	3	4	23	1	0	0	0	0	1	0	0	0	11941	768	27	1	48	1	PIP5K1C	19	3633473	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21501	3633473	55495510	4155	20611										
TJP3	27134	hgsc.bcm.edu	37	chr19	3728609	3728609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catcctctctcaggacccccGccggggctttggcattgcga	11	16	2	0	rs2067019	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3728609G>A	ENST00000541714.2	+	3	518	c.56G>A	c.(55-57)cGc>cAc	p.R19H	TJP3_ENST00000539908.2_5'UTR|TJP3_ENST00000589378.1_Missense_Mutation_p.R28H|TJP3_ENST00000262968.9_Missense_Mutation_p.R38H|TJP3_ENST00000587686.1_Missense_Mutation_p.R38H|TJP3_ENST00000382008.3_Missense_Mutation_p.R19H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	19	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.			R -> H (in Ref. 4; AAI08907). {ECO:0000305}.	regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACCCCCGCCGGGGCTTT	0.627													G|||	1440	0.28754	0.1626	0.3847	5008	,	,		16938	0.3482		0.1948	False		,,,				2504	0.4202				p.R28H		Atlas-SNP	.											TJP3,colon,carcinoma,0,1	TJP3	79	1	0			c.G83A						scavenged	.	G	HIS/ARG	766,3638	282.2+/-276.4	73,620,1509	21	26	25		113	4	1	19	dbSNP_96	25	1634,6966	283.9+/-296.4	173,1288,2839	yes	missense	TJP3	NM_014428.1	29	246,1908,4348	AA,AG,GG		19.0,17.3933,18.4559	probably-damaging	38/953	3728609	2400,10604	2202	4300	6502	SO:0001583	missense	27134	exon3			ACCCCCGCCGGGG	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.56G>A	19.37:g.3728609G>A	ENSP00000439278:p.Arg19His	Somatic	72	2	0.0277778		WXS	Illumina HiSeq	Phase_I	91	36	0.395604	NM_001267561	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	572	0.2619047619047619	76	0.15447154471544716	123	0.3397790055248619	225	0.39335664335664333	148	0.19525065963060687	G	16.41	3.114745	0.56505	0.173933	0.19	ENSG00000105289	ENST00000541714;ENST00000382008;ENST00000262968	T;T;T	0.29917	1.55;1.55;2.28	4.02	4.02	0.46733	PDZ/DHR/GLGF (3);	0.147473	0.46758	D	0.000274	T	0.00012	0.0000	N	0.21545	0.675	0.28643	P	0.9070552000000001	D;D;D;D	0.89917	0.991;1.0;1.0;0.991	P;D;D;P	0.81914	0.72;0.995;0.984;0.72	T	0.40384	-0.9566	9	0.46703	T	0.11	.	9.3472	0.38115	0.1135:0.0:0.8865:0.0	rs2067019;rs59188659;rs2067019	38;38;19;19	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	19;19;38	ENSP00000439278:R19H;ENSP00000371438:R19H;ENSP00000262968:R38H	ENSP00000262968:R38H	R	+	2	0	TJP3	3679609	0.999000	0.42202	0.991000	0.47740	0.664000	0.39144	3.676000	0.54612	2.253000	0.74438	0.456000	0.33151	CGC	G|0.787;A|0.213	0.213	strong		0.627	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3728609	G	A	3728609	3	1	23	1	0	0	0	0	1	0	0	0	15928	1087	38	1	119	1	TJP3	19	3728609	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	95136	3728609	55400374	4156	20612										
TJP3	27134	hgsc.bcm.edu	37	chr19	3731985	3731985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaagcacattacagattcGggcctggctgcccggcaccg	11	14	1	1	rs1879040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3731985G>A	ENST00000541714.2	+	6	1128	c.666G>A	c.(664-666)tcG>tcA	p.S222S	TJP3_ENST00000539908.2_Silent_p.S186S|TJP3_ENST00000589378.1_Silent_p.S231S|TJP3_ENST00000262968.9_Silent_p.S241S|TJP3_ENST00000587686.1_Silent_p.S241S|TJP3_ENST00000382008.3_Silent_p.S222S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	222	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.S241S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACAGATTCGGGCCTGGCTG	0.592													g|||	1644	0.328275	0.2179	0.4179	5008	,	,		16720	0.2768		0.3459	False		,,,				2504	0.4489				p.S231S		Atlas-SNP	.											TJP3,colon,carcinoma,0,2	TJP3	79	2	1	Substitution - coding silent(1)	stomach(1)	c.G693A						PASS	.	A		1168,3238	409.5+/-335.0	147,874,1182	50	45	46		723	-5.4	0.2	19	dbSNP_92	46	3001,5599	462.4+/-365.7	548,1905,1847	no	coding-synonymous	TJP3	NM_014428.1		695,2779,3029	AA,AG,GG		34.8953,26.5093,32.0544		241/953	3731985	4169,8837	2203	4300	6503	SO:0001819	synonymous_variant	27134	exon6			AGATTCGGGCCTG	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.666G>A	19.37:g.3731985G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	65	35	0.538462	NM_001267561	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	CCDS32873.2																																																																																			G|0.686;A|0.314	0.314	strong		0.592	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3731985	G	A	3731985	2	1	23	1	0	0	0	0	0	0	0	1	15928	1103	39	1		1	TJP3	19	3731985	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3376	3731985	55396998	4157	20613										
TJP3	27134	hgsc.bcm.edu	37	chr19	3740658	3740658	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctggcggctgcggggtctTcgtcgaggagccaagaagac	16	10	2	2	rs10416362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3740658T>G	ENST00000541714.2	+	14	2202	c.1740T>G	c.(1738-1740)ctT>ctG	p.L580L	TJP3_ENST00000539908.2_Silent_p.L544L|TJP3_ENST00000589378.1_Silent_p.L589L|TJP3_ENST00000262968.9_Silent_p.L613L|TJP3_ENST00000587686.1_Silent_p.L599L|TJP3_ENST00000382008.3_Silent_p.L594L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	580	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGGGTCTTCGTCGAGGAG	0.692													T|||	2761	0.551318	0.5121	0.5865	5008	,	,		11836	0.5228		0.5099	False		,,,				2504	0.6513				p.L589L		Atlas-SNP	.											TJP3,NS,carcinoma,0,1	TJP3	79	1	0			c.T1767G						PASS	.	T		2313,2089		631,1051,519	15	18	17		1839	-9.7	0	19	dbSNP_119	17	4479,4113		1202,2075,1019	no	coding-synonymous	TJP3	NM_014428.1		1833,3126,1538	GG,GT,TT		47.8701,47.4557,47.7297		613/953	3740658	6792,6202	2201	4296	6497	SO:0001819	synonymous_variant	27134	exon14			GGGTCTTCGTCGA	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1740T>G	19.37:g.3740658T>G		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	49	19	0.387755	NM_001267561	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	CCDS32873.2																																																																																			T|0.478;G|0.522	0.522	strong		0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			G	3740658	T	G	3740658	2	3	23	1	0	0	0	0	0	0	0	1	15928	1770	62	5		5	TJP3	19	3740658	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8673	3740658	55388325	4158	20614										
APBA3	9546	hgsc.bcm.edu	37	chr19	3753874	3753874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcagcaccagcacgcagccGatgtcggctgtgtaggagat	13	11	1	1	rs34868972	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3753874G>A	ENST00000316757.3	-	6	1100	c.900C>T	c.(898-900)atC>atT	p.I300I	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	300	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGCAGCCGATGTCGGCTG	0.697													G|||	460	0.091853	0.0098	0.1369	5008	,	,		12674	0.0089		0.1839	False		,,,				2504	0.1616				p.I300I		Atlas-SNP	.											.	APBA3	28	.	0			c.C900T						PASS	.	G		135,4159		4,127,2016	10	12	11		900	1.9	1	19	dbSNP_126	11	1381,7037		89,1203,2917	no	coding-synonymous	APBA3	NM_004886.3		93,1330,4933	AA,AG,GG		16.4053,3.1439,11.9257		300/576	3753874	1516,11196	2147	4209	6356	SO:0001819	synonymous_variant	9546	exon6			GCAGCCGATGTCG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.900C>T	19.37:g.3753874G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	38	17	0.447368	NM_004886	O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37	CCDS12110.1																																																																																			G|0.908;A|0.092	0.092	strong		0.697	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			A	3753874	G	A	3753874	2	1	23	1	0	0	0	0	0	0	0	1	758	1048	37	1		1	APBA3	19	3753874	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13216	3753874	55375109	4159	20615										
ZFR2	23217	hgsc.bcm.edu	37	chr19	3820191	3820191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtacctacctggagtggggCgctggcgggtgactccggcc	17	12	0	1	rs2301843	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3820191C>T	ENST00000262961.4	-	11	1739	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	577	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.		A -> T (in dbSNP:rs2301843).				nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TGGAGTGGGGCGCTGGCGGGT	0.726													C|||	1905	0.380391	0.41	0.4135	5008	,	,		15166	0.4296		0.4225	False		,,,				2504	0.2229				p.A577T		Atlas-SNP	.											.	ZFR2	63	.	0			c.G1729A						PASS	.	C	THR/ALA	1531,2657		311,909,874	12	16	15		1729	-3.1	0	19	dbSNP_100	15	2987,5193		660,1667,1763	yes	missense	ZFR2	NM_015174.1	58	971,2576,2637	TT,TC,CC		36.5159,36.5568,36.5298	possibly-damaging	577/940	3820191	4518,7850	2094	4090	6184	SO:0001583	missense	23217	exon11			GTGGGGCGCTGGC	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1729G>A	19.37:g.3820191C>T	ENSP00000262961:p.Ala577Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	69	35	0.507246	NM_015174		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	916	0.4194139194139194	213	0.4329268292682927	152	0.4198895027624309	240	0.4195804195804196	311	0.4102902374670185	C	2.938	-0.219507	0.06061	0.365568	0.365159	ENSG00000105278	ENST00000262961	T	0.06608	3.28	2.52	-3.12	0.05282	.	0.667620	0.13499	N	0.383395	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.39482	-0.9612	9	0.20046	T	0.44	0.3025	3.8591	0.08988	0.0:0.2789:0.3157:0.4054	rs2301843;rs52795129;rs57356575;rs2301843	577	Q9UPR6	ZFR2_HUMAN	T	577	ENSP00000262961:A577T	ENSP00000262961:A577T	A	-	1	0	ZFR2	3771191	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.761000	0.01805	-0.336000	0.08438	-0.327000	0.08410	GCC	C|0.594;T|0.406	0.406	strong		0.726	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3820191	C	T	3820191	3	4	23	1	0	0	0	0	1	0	0	0	17657	768	27	1	1126	1	ZFR2	19	3820191	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	66317	3820191	55308792	4160	20616										
ZFR2	23217	hgsc.bcm.edu	37	chr19	3831765	3831765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtggggtaggtgtatcccGaggacaaggtgctcgctggc	17	10	0	0	rs2240235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:3831765G>A	ENST00000262961.4	-	4	501	c.491C>T	c.(490-492)tCg>tTg	p.S164L	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	164			S -> L (in dbSNP:rs2240235).				nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGTGTATCCCGAGGACAAGGT	0.692													G|||	1839	0.367212	0.3858	0.4193	5008	,	,		12850	0.4196		0.4195	False		,,,				2504	0.1973				p.S164L		Atlas-SNP	.											ZFR2,NS,carcinoma,0,1	ZFR2	63	1	0			c.C491T						PASS	.	G	LEU/SER	1712,2580		351,1010,785	26	30	29		491	2.1	0	19	dbSNP_98	29	3327,5161		682,1963,1599	yes	missense	ZFR2	NM_015174.1	145	1033,2973,2384	AA,AG,GG		39.1965,39.8882,39.4288	benign	164/940	3831765	5039,7741	2146	4244	6390	SO:0001583	missense	23217	exon4			TATCCCGAGGACA	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.491C>T	19.37:g.3831765G>A	ENSP00000262961:p.Ser164Leu	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	118	57	0.483051	NM_015174		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	896	0.41025641025641024	196	0.3983739837398374	155	0.4281767955801105	236	0.4125874125874126	309	0.4076517150395778	G	15.46	2.839235	0.51057	0.398882	0.391965	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15256	3.18;2.44	3.19	2.14	0.27477	.	0.417428	0.19101	N	0.122696	T	0.00012	0.0000	L	0.46157	1.445	0.43036	P	0.005380999999999969	B	0.19331	0.035	B	0.08055	0.003	T	0.47129	-0.9141	9	0.13470	T	0.59	.	6.2186	0.20669	0.1443:0.0:0.8557:0.0	rs2240235;rs60998694;rs2240235	164	Q9UPR6	ZFR2_HUMAN	L	164	ENSP00000262961:S164L;ENSP00000388974:S164L	ENSP00000262961:S164L	S	-	2	0	ZFR2	3782765	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.516000	0.22817	0.552000	0.29026	0.561000	0.74099	TCG	G|0.600;A|0.400	0.400	strong		0.692	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		A	3831765	G	A	3831765	3	1	23	1	0	0	0	0	1	0	0	0	17657	1059	37	1	2392	1	ZFR2	19	3831765	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	11574	3831765	55297218	4161	20617										
UBXN6	80700	hgsc.bcm.edu	37	chr19	4454000	4454000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctccagccgggctagggcGgcagcggctgccatctgtgc	16	14	1	0	rs11909	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4454000G>A	ENST00000301281.6	-	2	298	c.174C>T	c.(172-174)gcC>gcT	p.A58A	UBXN6_ENST00000394765.3_Silent_p.A5A|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	58						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGGCTAGGGCGGCAGCGGCTG	0.682													G|||	1563	0.312101	0.2595	0.2205	5008	,	,		14553	0.2867		0.4115	False		,,,				2504	0.3722				p.A58A		Atlas-SNP	.											.	UBXN6	27	.	0			c.C174T						PASS	.	G	,	1279,3127	422.5+/-339.8	196,887,1120	67	83	78		15,174	-8.5	0.2	19	dbSNP_52	78	3475,5123	493.1+/-373.5	709,2057,1533	no	coding-synonymous,coding-synonymous	UBXN6	NM_001171091.1,NM_025241.2	,	905,2944,2653	AA,AG,GG		40.4164,29.0286,36.558	,	5/389,58/442	4454000	4754,8250	2203	4299	6502	SO:0001819	synonymous_variant	80700	exon2			TAGGGCGGCAGCG	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.174C>T	19.37:g.4454000G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	65	31	0.476923	NM_025241	D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	CCDS12129.1																																																																																			G|0.653;A|0.347	0.347	strong		0.682	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		A	4454000	G	A	4454000	2	1	23	1	0	0	0	0	0	0	0	1	16914	1103	39	1		1	UBXN6	19	4454000	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	622235	4454000	54674983	4162	20618										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511354	4511354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggcccctttggccactttcGcagcaccggtcaccccactg	9	19	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4511354G>A	ENST00000301286.3	-	3	2575	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	859	27 X 33 AA approximate tandem repeat.					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						GGCCACTTTCGCAGCACCGGT	0.587																																					p.A859V		Atlas-SNP	.											PLIN4_ENST00000301286,NS,carcinoma,0,2	PLIN4	191	2	0			c.C2576T						scavenged	.						68	78	75					19																	4511354		1926	4130	6056	SO:0001583	missense	729359	exon3			ACTTTCGCAGCAC	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.2576C>T	19.37:g.4511354G>A	ENSP00000301286:p.Ala859Val	Somatic	302	3	0.00993378		WXS	Illumina HiSeq	Phase_I	336	12	0.0357143	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	3.131	-0.178501	0.06380	.	.	ENSG00000167676	ENST00000301286	T	0.02863	4.13	4.78	-1.01	0.10169	.	0.874251	0.09537	N	0.788765	T	0.01189	0.0039	N	0.03948	-0.315	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48525	-0.9028	10	0.07644	T	0.81	-5.1453	5.6638	0.17684	0.3615:0.0:0.4823:0.1562	.	859	Q96Q06	PLIN4_HUMAN	V	859	ENSP00000301286:A859V	ENSP00000301286:A859V	A	-	2	0	PLIN4	4462354	0.065000	0.20965	0.000000	0.03702	0.002000	0.02628	-0.241000	0.08940	-0.050000	0.13356	-0.379000	0.06801	GCG	.	.	none		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4511354	G	A	4511354	3	1	23	1	0	0	0	0	1	0	0	0	12092	1087	38	1	1513	1	PLIN4	19	4511354	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	57354	4511354	54617629	4163	20619										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4513549	4513549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatggcccctgtgaccccGctggacaccacctccttggt	9	18	0	1	rs146566557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4513549G>A	ENST00000301286.3	-	3	380	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	127	27 X 33 AA approximate tandem repeat.					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						CTGTGACCCCGCTGGACACCA	0.667													G|||	4	0.000798722	0.0008	0.0	5008	,	,		17859	0.001		0.002	False		,,,				2504	0.0				p.S127S		Atlas-SNP	.											.	PLIN4	191	.	0			c.C381T						PASS	.	G		2,3976		0,2,1987	26	30	29		381	-10.7	0	19	dbSNP_134	29	37,8263		0,37,4113	no	coding-synonymous	PLIN4	NM_001080400.1		0,39,6100	AA,AG,GG		0.4458,0.0503,0.3176		127/1358	4513549	39,12239	1989	4150	6139	SO:0001819	synonymous_variant	729359	exon3			GACCCCGCTGGAC	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.381C>T	19.37:g.4513549G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	47	0.52809	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			G|0.998;A|0.002	0.002	strong		0.667	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4513549	G	A	4513549	2	1	23	1	0	0	0	0	0	0	0	1	12092	1078	38	1		1	PLIN4	19	4513549	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2195	4513549	54615434	4164	20620										
PLIN3	10226	hgsc.bcm.edu	37	chr19	4847868	4847868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctgctgctgcacggacgcGacgtcaaagccatccaggga	13	14	1	0	rs10406652	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4847868G>A	ENST00000221957.4	-	6	845	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PLIN3_ENST00000592528.1_Silent_p.V211V|PLIN3_ENST00000585479.1_Silent_p.V223V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	223					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GCACGGACGCGACGTCAAAGC	0.617													G|||	581	0.116014	0.1604	0.1484	5008	,	,		17332	0.0685		0.1312	False		,,,				2504	0.0665				p.V223V		Atlas-SNP	.											.	PLIN3	36	.	0			c.C669T						PASS	.	G	,,	696,3710	277.2+/-273.6	47,602,1554	44	35	38		669,633,669	0.9	0.2	19	dbSNP_119	38	1163,7437	226.6+/-262.3	74,1015,3211	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	121,1617,4765	AA,AG,GG		13.5233,15.7966,14.2934	,,	223/434,211/423,223/435	4847868	1859,11147	2203	4300	6503	SO:0001819	synonymous_variant	10226	exon6			GGACGCGACGTCA	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.669C>T	19.37:g.4847868G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	141	69	0.489362	NM_001164189	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	CCDS12137.1																																																																																			G|0.867;A|0.132	0.132	strong		0.617	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		A	4847868	G	A	4847868	2	1	23	1	0	0	0	0	0	0	0	1	12091	1045	37	1		1	PLIN3	19	4847868	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	334319	4847868	54281115	4165	20621										
PLIN3	10226	hgsc.bcm.edu	37	chr19	4852137	4852137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaagcgggagcccatgacCgattggacgccgccggtcac	13	16	1	1	rs1055919	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4852137C>T	ENST00000221957.4	-	5	701	c.525G>A	c.(523-525)tcG>tcA	p.S175S	PLIN3_ENST00000592528.1_Silent_p.S163S|PLIN3_ENST00000585479.1_Silent_p.S175S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	175					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGCCCATGACCGATTGGACGC	0.662											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2411	0.48143	0.4297	0.5231	5008	,	,		15629	0.4821		0.4682	False		,,,				2504	0.5348				p.S175S		Atlas-SNP	.											PLIN3,colon,carcinoma,0,1	PLIN3	36	1	0			c.G525A						scavenged	.	C	,,	1855,2551	535.3+/-374.2	402,1051,750	75	55	62		525,489,525	-10.3	0	19	dbSNP_86	62	3698,4902	527.2+/-381.1	768,2162,1370	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	1170,3213,2120	TT,TC,CC		43.0,42.1017,42.6957	,,	175/434,163/423,175/435	4852137	5553,7453	2203	4300	6503	SO:0001819	synonymous_variant	10226	exon5			CATGACCGATTGG	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.525G>A	19.37:g.4852137C>T		Somatic	157	1	0.00636943	622	WXS	Illumina HiSeq	Phase_I	126	57	0.452381	NM_001164189	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	CCDS12137.1																																																																																			C|0.557;T|0.443	0.443	strong		0.662	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		T	4852137	C	T	4852137	2	4	23	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLIN3	19	4852137	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4269	4852137	54276846	4166	20622										
PLIN3	10226	hgsc.bcm.edu	37	chr19	4861381	4861381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgtcacctgggtgctgccaTcagcctctgccccgtcggca	11	17	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:4861381T>C	ENST00000221957.4	-	2	202	c.26A>G	c.(25-27)gAt>gGt	p.D9G	PLIN3_ENST00000592528.1_Missense_Mutation_p.D9G|PLIN3_ENST00000585479.1_Missense_Mutation_p.D9G	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	9					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTGCTGCCATCAGCCTCTGC	0.627																																					p.D9G		Atlas-SNP	.											PLIN3,NS,carcinoma,-1,1	PLIN3	36	1	0			c.A26G						PASS	.						113	91	98					19																	4861381		2203	4300	6503	SO:0001583	missense	10226	exon2			CTGCCATCAGCCT	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.26A>G	19.37:g.4861381T>C	ENSP00000221957:p.Asp9Gly	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	13	0.270833	NM_001164189	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	T	7.718	0.696623	0.15106	.	.	ENSG00000105355	ENST00000221957	T	0.05925	3.37	3.24	-1.14	0.09741	.	1.247070	0.05815	U	0.614699	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.16722	0.016;0.007	T	0.45731	-0.9241	10	0.27785	T	0.31	-22.7586	5.44	0.16501	0.0:0.161:0.5605:0.2785	.	9;9	O60664-3;O60664	.;PLIN3_HUMAN	G	9	ENSP00000221957:D9G	ENSP00000221957:D9G	D	-	2	0	PLIN3	4812381	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.176000	0.16782	0.042000	0.15717	0.379000	0.24179	GAT	.	.	none		0.627	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		C	4861381	T	C	4861381	3	2	23	1	0	0	0	0	1	0	0	0	12091	1435	50	2	1306	2	PLIN3	19	4861381	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	9244	4861381	54267602	4167	20623										
KDM4B	23030	hgsc.bcm.edu	37	chr19	5110794	5110794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagctgagctcctggagtgcAtcccgggcctcgctgaaggc	15	13	0	2	rs2613739	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:5110794A>G	ENST00000159111.4	+	10	1298	c.1080A>G	c.(1078-1080)gcA>gcG	p.A360A	KDM4B_ENST00000381759.4_Silent_p.A360A|KDM4B_ENST00000536461.1_Silent_p.A360A	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	360					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGGAGTGCATCCCGGGCCT	0.701													G|||	3178	0.634585	0.6838	0.5706	5008	,	,		14508	0.6677		0.5656	False		,,,				2504	0.6503				p.A360A		Atlas-SNP	.											.	KDM4B	120	.	0			c.A1080G						PASS	.	G		2819,1581		904,1011,285	23	22	22		1080	-2.6	0.9	19	dbSNP_100	22	4747,3847		1318,2111,868	no	coding-synonymous	KDM4B	NM_015015.2		2222,3122,1153	GG,GA,AA		44.7638,35.9318,41.7731		360/1097	5110794	7566,5428	2200	4297	6497	SO:0001819	synonymous_variant	23030	exon10			GAGTGCATCCCGG	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1080A>G	19.37:g.5110794A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	76	26	0.342105	NM_015015	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																			A|0.406;G|0.594	0.594	strong		0.701	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		G	5110794	A	G	5110794	2	3	23	1	0	0	0	0	0	0	0	1	8129	204	8	2		2	KDM4B	19	5110794	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	249413	5110794	54018189	4168	20624										
ZNRF4	148066	hgsc.bcm.edu	37	chr19	5455976	5455976	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccgctctctgggcgccatCgtgctgatccgccgctacga	11	16	1	1	rs386806230|rs61740902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:5455976C>T	ENST00000222033.4	+	1	551	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	158	PA.			AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGGGCGCCATCGTGCTGATCC	0.682													C|||	596	0.11901	0.0477	0.1729	5008	,	,		15731	0.004		0.2296	False		,,,				2504	0.182				p.I158I		Atlas-SNP	.											.	ZNRF4	59	.	0			c.C474T						PASS	.	C		259,3999		8,243,1878	28	31	30		474	-9.3	0	19	dbSNP_129	30	1616,6844		228,1160,2842	no	coding-synonymous	ZNRF4	NM_181710.3		236,1403,4720	TT,TC,CC		19.1017,6.0827,14.7429		158/430	5455976	1875,10843	2129	4230	6359	SO:0001819	synonymous_variant	148066	exon1			CGCCATCGTGCTG	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.474C>T	19.37:g.5455976C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	25	14	0.56	NM_181710	A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																			C|0.851;T|0.149	0.149	strong		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5455976	C	T	5455976	2	4	23	1	0	0	0	0	0	0	0	1	18211	874	31	1		1	ZNRF4	19	5455976	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	345182	5455976	53673007	4169	20625										
TMEM146	257062	hgsc.bcm.edu	37	chr19	5749171	5749171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtattatggcaatctgggcAtcgtgccaagttccataatc	9	9	1	0	rs72983139	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:5749171A>G	ENST00000381624.3	+	11	1025	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	322					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CAATCTGGGCATCGTGCCAAG	0.438													a|||	398	0.0794728	0.1672	0.036	5008	,	,		19033	0.0119		0.0249	False		,,,				2504	0.1176				p.I322V		Atlas-SNP	.											.	.	.	.	0			c.A964G						PASS	.		VAL/ILE	513,3223		33,447,1388	88	88	88		964	-6.5	0	19	dbSNP_130	88	189,8025		0,189,3918	yes	missense	TMEM146	NM_152784.3	29	33,636,5306	GG,GA,AA		2.3009,13.7313,5.8745	benign	322/799	5749171	702,11248	1868	4107	5975	SO:0001583	missense	257062	exon11			CTGGGCATCGTGC	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.964A>G	19.37:g.5749171A>G	ENSP00000371037:p.Ile322Val	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	75	34	0.453333	NM_152784	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2	120	0.054945054945054944	87	0.17682926829268292	14	0.03867403314917127	2	0.0034965034965034965	17	0.022427440633245383	a	0.139	-1.103923	0.01828	0.137313	0.023009	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.25912	1.77	3.26	-6.52	0.01872	.	2.007800	0.03422	N	0.206446	T	0.00039	0.0001	N	0.14661	0.345	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.04013	0.001	T	0.22068	-1.0227	9	0.20046	T	0.44	-0.2315	3.3693	0.07215	0.3218:0.0:0.3244:0.3538	.	322	Q86XM0	TM146_HUMAN	V	248;322	ENSP00000371037:I322V	ENSP00000371037:I322V	I	+	1	0	TMEM146	5700171	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.433000	0.06948	-1.175000	0.02751	-0.671000	0.03813	ATC	A|0.957;G|0.043	0.043	strong		0.438	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		G	5749171	A	G	5749171	3	3	23	1	0	0	0	0	1	0	0	0	16057	217	8	2	1006	2	TMEM146	19	5749171	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	293195	5749171	53379812	4170	20626										
RFX2	5990	hgsc.bcm.edu	37	chr19	6013057	6013057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actgcgtgtcctcctgcagcCggttcagtggtgagtccggc	14	13	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6013057C>T	ENST00000303657.5	-	8	988	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	RFX2_ENST00000592546.1_Missense_Mutation_p.R255Q|RFX2_ENST00000359161.3_Missense_Mutation_p.R280Q|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTGCAGCCGGTTCAGTGG	0.612																																					p.R280Q	Colon(38;171 817 19800 47433 48051)	Atlas-SNP	.											.	RFX2	60	.	0			c.G839A						PASS	.						126	122	123					19																	6013057		2203	4300	6503	SO:0001583	missense	5990	exon8			TGCAGCCGGTTCA		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.839G>A	19.37:g.6013057C>T	ENSP00000306335:p.Arg280Gln	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	56	25	0.446429	NM_000635	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851655	0.71719	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T;D	0.92149	-0.1;-2.98	4.99	2.84	0.33178	.	0.059667	0.64402	D	0.000002	D	0.88385	0.6422	M	0.65320	2	0.80722	D	1	P;P	0.41848	0.763;0.651	B;B	0.37387	0.248;0.087	D	0.84345	0.0529	10	0.37606	T	0.19	-48.0962	9.5849	0.39510	0.0:0.7782:0.1427:0.0791	.	255;280	P48378-2;P48378	.;RFX2_HUMAN	Q	280;255;67	ENSP00000306335:R280Q;ENSP00000352076:R255Q	ENSP00000306335:R280Q	R	-	2	0	RFX2	5964057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.746000	0.62133	0.611000	0.30052	0.557000	0.71058	CGG	.	.	none		0.612	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		T	6013057	C	T	6013057	3	4	23	1	0	0	0	0	1	0	0	0	13263	652	23	1	1376	1	RFX2	19	6013057	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263886	6013057	53115926	4171	20627										
KHSRP	8570	hgsc.bcm.edu	37	chr19	6415735	6415735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggggtccgcggccgctgcAgctgctttgcctgcaggaga	16	12	0	1	rs145698454	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6415735A>G	ENST00000398148.3	-	17	1790	c.1698T>C	c.(1696-1698)gcT>gcC	p.A566A	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	566	Ala/Gly/Pro-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.A566A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CGGCCGCTGCAGCTGCTTTGC	0.706													A|||	32	0.00638978	0.0008	0.0144	5008	,	,		11509	0.0		0.0139	False		,,,				2504	0.0072				p.A566A	Colon(55;593 1006 2067 9135 22980)	Atlas-SNP	.											KHSRP,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	KHSRP	51	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.T1698C						PASS	.	A		3,3369		0,3,1683	4	6	5		1698	-10.1	0	19	dbSNP_134	5	31,7415		0,31,3692	no	coding-synonymous	KHSRP	NM_003685.2		0,34,5375	GG,GA,AA		0.4163,0.089,0.3143		566/712	6415735	34,10784	1686	3723	5409	SO:0001819	synonymous_variant	8570	exon17			CGCTGCAGCTGCT	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1698T>C	19.37:g.6415735A>G		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	31	10	0.322581	NM_003685	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	CCDS45936.1																																																																																			A|0.994;G|0.006	0.006	strong		0.706	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			G	6415735	A	G	6415735	2	3	23	1	0	0	0	0	0	0	0	1	8151	175	7	3		3	KHSRP	19	6415735	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	402678	6415735	52713248	4172	20628										
KHSRP	8570	hgsc.bcm.edu	37	chr19	6416627	6416627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagatctctacgaaggctccCgtctgctggtttatggcttt	11	10	2	1	rs149214856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6416627C>T	ENST00000398148.3	-	14	1454	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	454	Gly-rich.|KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CGAAGGCTCCCGTCTGCTGGT	0.587													C|||	8	0.00159744	0.0	0.0043	5008	,	,		17267	0.0		0.005	False		,,,				2504	0.0				p.T454T	Colon(55;593 1006 2067 9135 22980)	Atlas-SNP	.											KHSRP,NS,carcinoma,-1,1	KHSRP	51	1	0			c.G1362A						scavenged	.	C		2,3890		0,2,1944	44	48	47		1362	-10.6	0.4	19	dbSNP_134	47	22,8262		0,22,4120	no	coding-synonymous	KHSRP	NM_003685.2		0,24,6064	TT,TC,CC		0.2656,0.0514,0.1971		454/712	6416627	24,12152	1946	4142	6088	SO:0001819	synonymous_variant	8570	exon14			GGCTCCCGTCTGC	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1362G>A	19.37:g.6416627C>T		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	126	74	0.587302	NM_003685	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	CCDS45936.1																																																																																			C|0.998;T|0.002	0.002	strong		0.587	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			T	6416627	C	T	6416627	2	4	23	1	0	0	0	0	0	0	0	1	8151	639	23	1		1	KHSRP	19	6416627	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	892	6416627	52712356	4173	20629										
SLC25A23	79085	hgsc.bcm.edu	37	chr19	6458240	6458240	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtcaagactgtgaaacatGagcagcagacgctgttcccg	12	11	1	4	rs2289784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6458240G>C	ENST00000301454.4	-	2	358	c.252C>G	c.(250-252)ctC>ctG	p.L84L	SLC25A23_ENST00000334510.5_Silent_p.L84L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TGTGAAACATGAGCAGCAGAC	0.607													G|||	232	0.0463259	0.0121	0.0259	5008	,	,		19373	0.0456		0.0547	False		,,,				2504	0.0992				p.L84L		Atlas-SNP	.											SLC25A23,NS,carcinoma,0,1	SLC25A23	43	1	0			c.C252G						PASS	.	G		117,4289	86.8+/-125.4	1,115,2087	54	44	48		252	-0.6	1	19	dbSNP_100	48	560,8040	152.1+/-206.7	13,534,3753	no	coding-synonymous	SLC25A23	NM_024103.2		14,649,5840	CC,CG,GG		6.5116,2.6555,5.2053		84/469	6458240	677,12329	2203	4300	6503	SO:0001819	synonymous_variant	79085	exon2			AAACATGAGCAGC	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.252C>G	19.37:g.6458240G>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	36	11	0.305556	NM_024103	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																			G|0.946;C|0.054	0.054	strong		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		C	6458240	G	C	6458240	2	2	23	1	0	0	0	0	0	0	0	1	14486	1277	45	4		4	SLC25A23	19	6458240	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	41613	6458240	52670743	4174	20630										
TNFSF9	8744	hgsc.bcm.edu	37	chr19	6534728	6534728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctggtggtggccaaggctgGagtctactatgtcttctttc	13	9	3	0	rs61750000	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6534728G>C	ENST00000245817.3	+	3	454	c.416G>C	c.(415-417)gGa>gCa	p.G139A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	139					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCCAAGGCTGGAGTCTACTAT	0.637													g|||	5	0.000998403	0.0	0.0	5008	,	,		10547	0.0		0.005	False		,,,				2504	0.0				p.G139A		Atlas-SNP	.											.	TNFSF9	17	.	0			c.G416C						PASS	.		ALA/GLY	4,4374		0,4,2185	59	60	60		416	4.1	0	19	dbSNP_129	60	42,8548		0,42,4253	yes	missense	TNFSF9	NM_003811.3	60	0,46,6438	CC,CG,GG		0.4889,0.0914,0.3547	probably-damaging	139/255	6534728	46,12922	2189	4295	6484	SO:0001583	missense	8744	exon3			AGGCTGGAGTCTA	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.416G>C	19.37:g.6534728G>C	ENSP00000245817:p.Gly139Ala	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	110	55	0.5	NM_003811	Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	CCDS12169.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	17.69	3.450738	0.63290	9.14E-4	0.004889	ENSG00000125657	ENST00000245817	D	0.99928	-8.08	4.13	4.13	0.48395	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.000000	0.47093	U	0.000253	D	0.99887	0.9946	M	0.71581	2.175	0.24658	N	0.993484	D	0.89917	1.0	D	0.91635	0.999	D	0.98667	1.0686	10	0.87932	D	0	-29.5602	12.2711	0.54706	0.0:0.0:1.0:0.0	rs61750000	139	P41273	TNFL9_HUMAN	A	139	ENSP00000245817:G139A	ENSP00000245817:G139A	G	+	2	0	TNFSF9	6485728	0.980000	0.34600	0.025000	0.17156	0.008000	0.06430	4.189000	0.58358	2.026000	0.59711	0.466000	0.42574	GGA	G|0.997;C|0.003	0.003	strong		0.637	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		C	6534728	G	C	6534728	3	2	23	1	0	0	0	0	1	0	0	0	16309	1174	41	4	426	4	TNFSF9	19	6534728	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	76488	6534728	52594255	4175	20631										
C3	718	hgsc.bcm.edu	37	chr19	6702157	6702157	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctttcttgtccgacatgctCacagccagaatctcccacgt	6	16	3	1	rs428453	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6702157C>G	ENST00000245907.6	-	19	2513	c.2421G>C	c.(2419-2421)gtG>gtC	p.V807V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	807					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCGACATGCTCACAGCCAGAA	0.493													C|||	3668	0.732428	0.7103	0.7695	5008	,	,		19845	0.8512		0.6272	False		,,,				2504	0.7219				p.V807V		Atlas-SNP	.											.	C3	192	.	0			c.G2421C						PASS	.	C		3093,1313	696.4+/-406.1	1081,931,191	69	67	68		2421	1.5	1	19	dbSNP_80	68	5322,3278	647.4+/-400.4	1635,2052,613	no	coding-synonymous	C3	NM_000064.2		2716,2983,804	GG,GC,CC		38.1163,29.8003,35.2991		807/1664	6702157	8415,4591	2203	4300	6503	SO:0001819	synonymous_variant	718	exon19			CATGCTCACAGCC	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2421G>C	19.37:g.6702157C>G		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	33	31	0.939394	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			C|0.332;G|0.668	0.668	strong		0.493	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6702157	C	G	6702157	2	3	23	1	0	0	0	0	0	0	0	1	2204	813	29	4		4	C3	19	6702157	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	167429	6702157	52426826	4176	20632										
GPR108	56927	hgsc.bcm.edu	37	chr19	6733582	6733582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccctccactccgctcaccGtgatgtcgaatggatgctcc	9	16	1	1	rs201134279	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:6733582G>A	ENST00000264080.7	-	8	748	c.722C>T	c.(721-723)aCg>aTg	p.T241M	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_De_novo_Start_InFrame	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	241						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCCGCTCACCGTGATGTCGAA	0.632													G|||	21	0.00419329	0.0	0.0	5008	,	,		16071	0.0		0.005	False		,,,				2504	0.0164				p.T241M		Atlas-SNP	.											.	GPR108	35	.	0			c.C722T						PASS	.	G	MET/THR	11,4095		0,11,2042	81	79	80		722	3.9	1	19		80	45,8347		0,45,4151	yes	missense-near-splice	GPR108	NM_001080452.1	81	0,56,6193	AA,AG,GG		0.5362,0.2679,0.4481	probably-damaging	241/544	6733582	56,12442	2053	4196	6249	SO:0001630	splice_region_variant	56927	exon8			CTCACCGTGATGT		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.723+1C>T	19.37:g.6733582G>A		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	129	129	1	NM_001080452	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	32	5.147240	0.94603	0.002679	0.005362	ENSG00000125734	ENST00000264080	T	0.26373	1.74	3.92	3.92	0.45320	.	0.198041	0.28600	U	0.014764	T	0.38665	0.1049	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.34700	-0.9818	10	0.48119	T	0.1	-26.584	11.595	0.50968	0.0:0.0:1.0:0.0	.	241	Q9NPR9	GP108_HUMAN	M	241	ENSP00000264080:T241M	ENSP00000264080:T241M	T	-	2	0	GPR108	6684582	0.981000	0.34729	0.999000	0.59377	0.813000	0.45954	1.961000	0.40432	2.172000	0.68678	0.555000	0.69702	ACG	G|0.995;A|0.005	0.005	strong		0.632	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		Missense_Mutation	A	6733582	G	A	6733582	5	1	23	1	0	0	0	0	0	0	1	0	6624	1159	40	1	953	1	GPR108	19	6733582	Splice_Site	SNP	G	TCGA-GR-7353-01A-11D-2210-10	31425	6733582	52395401	4177	20633										
PEX11G	92960	hgsc.bcm.edu	37	chr19	7542118	7542118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggcctcggcctggccgccGgcccgggccgcctggtacat	16	17	0	0	rs7256275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:7542118G>A	ENST00000221480.1	-	5	704	c.696C>T	c.(694-696)gcC>gcT	p.A232A	PEX11G_ENST00000593942.1_Silent_p.A162A|PEX11G_ENST00000599519.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	232					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CCTGGCCGCCGGCCCGGGCCG	0.711													G|||	708	0.141374	0.2254	0.1383	5008	,	,		13753	0.1389		0.0706	False		,,,				2504	0.1053				p.A232A		Atlas-SNP	.											.	PEX11G	16	.	0			c.C696T						PASS	.	G		835,3479		79,677,1401	7	11	10		696	-7.8	0	19	dbSNP_116	10	555,7895		21,513,3691	no	coding-synonymous	PEX11G	NM_080662.2		100,1190,5092	AA,AG,GG		6.568,19.3556,10.89		232/242	7542118	1390,11374	2157	4225	6382	SO:0001819	synonymous_variant	92960	exon5			GCCGCCGGCCCGG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.696C>T	19.37:g.7542118G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	51	29	0.568627	NM_080662	Q8NDM0	Silent	SNP	ENST00000221480.1	37	CCDS12178.1																																																																																			G|0.870;A|0.130	0.130	strong		0.711	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		A	7542118	G	A	7542118	2	1	23	1	0	0	0	0	0	0	0	1	11739	1103	39	1		1	PEX11G	19	7542118	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	808536	7542118	51586865	4178	20634										
PEX11G	92960	hgsc.bcm.edu	37	chr19	7547074	7547074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggttccctaggacggagacAcagcggacaaaggcgtcctc	13	12	0	1	rs2303146	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:7547074A>C	ENST00000221480.1	-	3	281	c.273T>G	c.(271-273)tgT>tgG	p.C91W	PEX11G_ENST00000593942.1_Missense_Mutation_p.C21W|PEX11G_ENST00000599519.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	91			C -> W (in dbSNP:rs2303146).		peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GGACGGAGACACAGCGGACAA	0.632													C|||	2291	0.457468	0.7201	0.3055	5008	,	,		18080	0.4435		0.326	False		,,,				2504	0.3599				p.C91W		Atlas-SNP	.											.	PEX11G	16	.	0			c.T273G						PASS	.	C	TRP/CYS	2773,1611		888,997,307	35	31	33		273	-3.5	0	19	dbSNP_100	33	2669,5909		450,1769,2070	yes	missense	PEX11G	NM_080662.2	215	1338,2766,2377	CC,CA,AA		31.1145,36.7473,41.9843	benign	91/242	7547074	5442,7520	2192	4289	6481	SO:0001583	missense	92960	exon3			GGAGACACAGCGG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.273T>G	19.37:g.7547074A>C	ENSP00000221480:p.Cys91Trp	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	56	22	0.392857	NM_001270539	Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	CCDS12178.1	922	0.42216117216117216	336	0.6829268292682927	101	0.27900552486187846	243	0.42482517482517484	242	0.31926121372031663	C	0.007	-1.998520	0.00435	0.632527	0.311145	ENSG00000104883	ENST00000221480	T	0.40476	1.03	4.76	-3.55	0.04639	.	0.407958	0.31438	N	0.007641	T	0.00012	0.0000	N	0.03891	-0.335	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.39231	-0.9624	9	0.26408	T	0.33	0.2335	9.6386	0.39824	0.5017:0.2648:0.2335:0.0	rs2303146;rs61461499;rs2303146	91	Q96HA9	PX11C_HUMAN	W	91	ENSP00000221480:C91W	ENSP00000221480:C91W	C	-	3	2	PEX11G	7453074	0.004000	0.15560	0.000000	0.03702	0.023000	0.10783	-0.078000	0.11375	-1.121000	0.02949	-0.217000	0.12591	TGT	A|0.557;C|0.443	0.443	strong		0.632	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		C	7547074	A	C	7547074	3	2	23	1	0	0	0	0	1	0	0	0	11739	157	6	5	464	5	PEX11G	19	7547074	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4956	7547074	51581909	4179	20635										
PEX11G	92960	hgsc.bcm.edu	37	chr19	7550844	7550844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacagacgtgtccccacttcGgacctggcgggacactgttc	11	14	0	1	rs34970001	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:7550844G>A	ENST00000221480.1	-	2	137	c.129C>T	c.(127-129)tcC>tcT	p.S43S	PEX11G_ENST00000593942.1_5'UTR|PEX11G_ENST00000599519.1_5'Flank	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	43					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						TCCCCACTTCGGACCTGGCGG	0.572													G|||	1278	0.255192	0.2572	0.255	5008	,	,		16452	0.2083		0.3032	False		,,,				2504	0.2515				p.S43S		Atlas-SNP	.											.	PEX11G	16	.	0			c.C129T						PASS	.	G		1083,3323	392.1+/-328.4	131,821,1251	86	67	73		129	-6.1	0.1	19	dbSNP_126	73	2458,6142	406.1+/-348.7	360,1738,2202	no	coding-synonymous	PEX11G	NM_080662.2		491,2559,3453	AA,AG,GG		28.5814,24.5801,27.2259		43/242	7550844	3541,9465	2203	4300	6503	SO:0001819	synonymous_variant	92960	exon2			CACTTCGGACCTG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.129C>T	19.37:g.7550844G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	80	40	0.5	NM_001270539	Q8NDM0	Silent	SNP	ENST00000221480.1	37	CCDS12178.1																																																																																			G|0.725;A|0.275	0.275	strong		0.572	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		A	7550844	G	A	7550844	2	1	23	1	0	0	0	0	0	0	0	1	11739	1103	39	1		1	PEX11G	19	7550844	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3770	7550844	51578139	4180	20636										
STXBP2	6813	hgsc.bcm.edu	37	chr19	7712050	7712050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcctctcggccgccaggaCgccgtggaggaccggctgga	16	15	1	0	rs146425381	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:7712050C>T	ENST00000221283.5	+	17	1486	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	STXBP2_ENST00000441779.2_Silent_p.D496D|STXBP2_ENST00000602355.1_Silent_p.D20D|STXBP2_ENST00000414284.2_Silent_p.D482D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	485					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCGCCAGGACGCCGTGGAGG	0.721													C|||	3	0.000599042	0.0	0.0014	5008	,	,		13459	0.0		0.002	False		,,,				2504	0.0				p.D496D		Atlas-SNP	.											.	STXBP2	63	.	0			c.C1488T						PASS	.	C	,	0,4384		0,0,2192	22	28	26		1446,1455	-3.5	0.5	19	dbSNP_134	26	14,8528		0,14,4257	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	0,14,6449	TT,TC,CC		0.1639,0.0,0.1083	,	482/591,485/594	7712050	14,12912	2192	4271	6463	SO:0001819	synonymous_variant	6813	exon17			CCAGGACGCCGTG	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1455C>T	19.37:g.7712050C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	50	15	0.3	NM_001272034	B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	CCDS12181.1																																																																																			C|0.999;T|0.001	0.001	strong		0.721	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		T	7712050	C	T	7712050	2	4	23	1	0	0	0	0	0	0	0	1	15352	535	19	1		1	STXBP2	19	7712050	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	161206	7712050	51416933	4181	20637										
CLEC4M	10332	hgsc.bcm.edu	37	chr19	7831628	7831628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actcccagcggaactggcacGactccgtcaccgcctgccag	10	18	1	0	rs2277998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:7831628G>A	ENST00000327325.5	+	5	989	c.871G>A	c.(871-873)Gac>Aac	p.D291N	CLEC4M_ENST00000596363.1_Missense_Mutation_p.D263N|CLEC4M_ENST00000394122.2_Missense_Mutation_p.D279N|CLEC4M_ENST00000359059.5_Missense_Mutation_p.D224N|CLEC4M_ENST00000597522.1_Missense_Mutation_p.D199N|CLEC4M_ENST00000334806.5_Missense_Mutation_p.D240N|CLEC4M_ENST00000596707.1_Missense_Mutation_p.D224N|CLEC4M_ENST00000248228.4_Missense_Mutation_p.D269N|CLEC4M_ENST00000595496.1_Missense_Mutation_p.D155N|CLEC4M_ENST00000357361.2_Missense_Mutation_p.D291N	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	291	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		D -> N (in dbSNP:rs2277998). {ECO:0000269|Ref.5}.		antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAACTGGCACGACTCCGTCAC	0.602													g|||	887	0.177117	0.0113	0.3573	5008	,	,		15081	0.1389		0.2962	False		,,,				2504	0.1902				p.D291N		Atlas-SNP	.											CLEC4M,right_lower_lobe,carcinoma,-2,2	CLEC4M	58	2	0			c.G871A						PASS	.	A	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	302,4104	162.9+/-194.8	11,280,1912	99	90	93		718,799,463,670,595,733,802,787,871	-5.1	0	19	dbSNP_100	93	2704,5896	433.6+/-357.5	430,1844,2026	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	23,23,23,23,23,23,23,23,23	441,2124,3938	AA,AG,GG		31.4419,6.8543,23.1124	benign,benign,benign,benign,benign,benign,benign,benign,benign	240/349,267/376,155/264,224/333,199/233,245/354,268/377,263/297,291/400	7831628	3006,10000	2203	4300	6503	SO:0001583	missense	10332	exon5			TGGCACGACTCCG	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.871G>A	19.37:g.7831628G>A	ENSP00000316228:p.Asp291Asn	Somatic	191	1	0.0052356		WXS	Illumina HiSeq	Phase_I	175	95	0.542857	NM_014257	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	CCDS12187.1	438	0.20054945054945056	10	0.02032520325203252	110	0.30386740331491713	88	0.15384615384615385	230	0.3034300791556728	g	3.314	-0.140125	0.06669	0.068543	0.314419	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	2.57	-5.14	0.02875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.00012	0.0000	M	0.67700	2.07	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.24258	0.056;0.029;0.1;0.009;0.003;0.006;0.075;0.01	B;B;B;B;B;B;B;B	0.19946	0.014;0.004;0.012;0.027;0.002;0.008;0.017;0.013	T	0.25433	-1.0132	8	0.40728	T	0.16	.	1.8763	0.03219	0.2781:0.1053:0.4222:0.1944	rs2277998;rs17303108;rs52822524;rs2277998	240;224;291;279;268;263;155;199	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	N	291;279;269;240;224;291;235	ENSP00000316228:D291N;ENSP00000377680:D279N;ENSP00000248228:D269N;ENSP00000335228:D240N;ENSP00000351954:D224N;ENSP00000349924:D291N	ENSP00000248228:D269N	D	+	1	0	CLEC4M	7737628	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.143000	0.01297	-3.295000	0.00194	-3.689000	0.00024	GAC	G|0.787;A|0.213	0.213	strong		0.602	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		A	7831628	G	A	7831628	3	1	23	1	0	0	0	0	1	0	0	0	3518	1058	37	1	910	1	CLEC4M	19	7831628	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	119578	7831628	51297355	4182	20638										
ELAVL1	1994	hgsc.bcm.edu	37	chr19	8028544	8028544	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actttcacattggtgacggcAccaaacggcccaaacatctg	8	13	2	1	rs14394	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8028544A>G	ENST00000407627.2	-	6	933	c.804T>C	c.(802-804)ggT>ggC	p.G268G	ELAVL1_ENST00000351593.5_Silent_p.G295G|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Silent_p.G268G	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	268	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGTGACGGCACCAAACGGCC	0.547													G|||	763	0.152356	0.1634	0.1585	5008	,	,		18524	0.0456		0.3101	False		,,,				2504	0.0808				p.G268G		Atlas-SNP	.											.	ELAVL1	44	.	0			c.T804C						PASS	.	G		871,3535	743.3+/-411.4	87,697,1419	135	115	121		804	-5.1	0.3	19	dbSNP_52	121	2454,6146	697.0+/-404.9	337,1780,2183	no	coding-synonymous	ELAVL1	NM_001419.2		424,2477,3602	GG,GA,AA		28.5349,19.7685,25.5651		268/327	8028544	3325,9681	2203	4300	6503	SO:0001819	synonymous_variant	1994	exon6			GACGGCACCAAAC	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.804T>C	19.37:g.8028544A>G		Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	255	120	0.470588	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	CCDS12193.1																																																																																			A|0.776;G|0.224	0.224	strong		0.547	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		G	8028544	A	G	8028544	2	3	23	1	0	0	0	0	0	0	0	1	5049	146	6	2		2	ELAVL1	19	8028544	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	196916	8028544	51100439	4183	20639										
FBN3	84467	hgsc.bcm.edu	37	chr19	8154990	8154990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgggcactcaccgctgccCtcctggggacacagttcgca	13	15	1	0	rs35002391	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8154990C>T	ENST00000600128.1	-	49	6591	c.6177G>A	c.(6175-6177)gaG>gaA	p.E2059E	FBN3_ENST00000270509.2_Silent_p.E2059E|FBN3_ENST00000601739.1_Silent_p.E2059E			Q75N90	FBN3_HUMAN	fibrillin 3	2059	TB 8.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCGCTGCCCTCCTGGGGAC	0.632													C|||	1228	0.245208	0.3691	0.219	5008	,	,		18512	0.0724		0.337	False		,,,				2504	0.18				p.E2059E		Atlas-SNP	.											.	FBN3	300	.	0			c.G6177A						PASS	.	C		1599,2807	488.0+/-361.1	299,1001,903	39	41	40		6177	0.3	1	19	dbSNP_126	40	3155,5445	472.1+/-368.3	586,1983,1731	no	coding-synonymous	FBN3	NM_032447.3		885,2984,2634	TT,TC,CC		36.686,36.2914,36.5524		2059/2810	8154990	4754,8252	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon48			GCTGCCCTCCTGG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6177G>A	19.37:g.8154990C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	104	53	0.509615	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1	574	0.26282051282051283	181	0.3678861788617886	89	0.24585635359116023	48	0.08391608391608392	256	0.33773087071240104	C	0.118	-1.128823	0.01756	0.362914	0.36686	ENSG00000142449	ENST00000341066	.	.	.	3.83	0.32	0.15878	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999917993	.	.	.	.	.	.	T	0.39461	-0.9613	4	0.22706	T	0.39	.	11.4047	0.49892	0.0:0.6267:0.0:0.3733	rs35002391	.	.	.	K	179	.	ENSP00000341317:R179K	R	-	2	0	FBN3	8060990	0.033000	0.19621	0.998000	0.56505	0.071000	0.16799	-0.251000	0.08818	-0.046000	0.13446	-1.598000	0.00824	AGG	C|0.668;T|0.332	0.332	strong		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8154990	C	T	8154990	2	4	23	1	0	0	0	0	0	0	0	1	5704	680	24	2		2	FBN3	19	8154990	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126446	8154990	50973993	4184	20640										
FBN3	84467	hgsc.bcm.edu	37	chr19	8159362	8159362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactctgcacctggaagccaGggggacagatgcagcggaag	15	11	1	1	rs7245429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8159362G>T	ENST00000600128.1	-	47	6287	c.5873C>A	c.(5872-5874)cCt>cAt	p.P1958H	FBN3_ENST00000270509.2_Missense_Mutation_p.P1958H|FBN3_ENST00000601739.1_Missense_Mutation_p.P1958H			Q75N90	FBN3_HUMAN	fibrillin 3	1958	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> H (in dbSNP:rs7245429).			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGAAGCCAGGGGGACAGAT	0.587													G|||	2433	0.485823	0.2209	0.5403	5008	,	,		20228	0.7331		0.4006	False		,,,				2504	0.638				p.P1958H		Atlas-SNP	.											.	FBN3	300	.	0			c.C5873A						PASS	.	G	HIS/PRO	1034,3372	379.7+/-323.4	134,766,1303	77	58	64		5873	1.4	0.6	19	dbSNP_116	64	3332,5268	494.1+/-373.7	654,2024,1622	yes	missense	FBN3	NM_032447.3	77	788,2790,2925	TT,TG,GG		38.7442,23.468,33.5691	probably-damaging	1958/2810	8159362	4366,8640	2203	4300	6503	SO:0001583	missense	84467	exon46			AAGCCAGGGGGAC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5873C>A	19.37:g.8159362G>T	ENSP00000470498:p.Pro1958His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	1031|1031	0.47206959706959706|0.47206959706959706	114|114	0.23170731707317074|0.23170731707317074	190|190	0.5248618784530387|0.5248618784530387	422|422	0.7377622377622378|0.7377622377622378	305|305	0.4023746701846966|0.4023746701846966	G|G	18.00|18.00	3.525861|3.525861	0.64860|0.64860	0.23468|0.23468	0.387442|0.387442	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.92199	.|-2.99	4.69|4.69	1.38|1.38	0.22167|0.22167	.|EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.061519	.|0.64402	.|U	.|0.000003	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.55213|0.55213	1.73|1.73	0.19945|0.19945	P|P	0.9999416979|0.9999416979	.|D	.|0.53151	.|0.958	.|P	.|0.50440	.|0.641	T|T	0.49725|0.49725	-0.8909|-0.8909	5|9	0.34782|0.66056	T|D	0.22|0.02	.|.	9.8691|9.8691	0.41164|0.41164	0.2158:0.0:0.7842:0.0|0.2158:0.0:0.7842:0.0	rs7245429;rs17395421;rs52835316;rs60633933;rs7245429|rs7245429;rs17395421;rs52835316;rs60633933;rs7245429	.|1958	.|Q75N90	.|FBN3_HUMAN	M|H	78|1958	.|ENSP00000270509:P1958H	ENSP00000341317:L78M|ENSP00000270509:P1958H	L|P	-|-	1|2	2|0	FBN3|FBN3	8065362|8065362	1.000000|1.000000	0.71417|0.71417	0.566000|0.566000	0.28421|0.28421	0.913000|0.913000	0.54294|0.54294	5.137000|5.137000	0.64789|0.64789	0.085000|0.085000	0.17107|0.17107	-0.355000|-0.355000	0.07637|0.07637	CTG|CCT	G|0.603;T|0.397	0.397	strong		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8159362	G	T	8159362	3	4	23	1	0	0	0	0	1	0	0	0	5704	1000	35	4	2628	4	FBN3	19	8159362	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4372	8159362	50969621	4185	20641										
FBN3	84467	hgsc.bcm.edu	37	chr19	8160334	8160334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggaaccagctgtgttgaGgcaatggccaaatcggcaca	13	9	0	1	rs12608849	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8160334G>A	ENST00000600128.1	-	46	6124	c.5710C>T	c.(5710-5712)Ctc>Ttc	p.L1904F	FBN3_ENST00000270509.2_Missense_Mutation_p.L1904F|FBN3_ENST00000601739.1_Missense_Mutation_p.L1904F			Q75N90	FBN3_HUMAN	fibrillin 3	1904	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		L -> F (in dbSNP:rs12608849).|L -> P (in dbSNP:rs12608849). {ECO:0000269|PubMed:15221638}.			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTGTGTTGAGGCAATGGCCA	0.552													G|||	1550	0.309505	0.0613	0.2767	5008	,	,		18064	0.4881		0.2843	False		,,,				2504	0.5102				p.L1904F		Atlas-SNP	.											.	FBN3	300	.	0			c.C5710T						PASS	.	G	PHE/LEU	413,3993	203.1+/-225.7	22,369,1812	118	83	95		5710	-0.7	1	19	dbSNP_120	95	2173,6427	371.5+/-336.3	289,1595,2416	yes	missense	FBN3	NM_032447.3	22	311,1964,4228	AA,AG,GG		25.2674,9.3736,19.8831	benign	1904/2810	8160334	2586,10420	2203	4300	6503	SO:0001583	missense	84467	exon45			TGTTGAGGCAATG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5710C>T	19.37:g.8160334G>A	ENSP00000470498:p.Leu1904Phe	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	166	81	0.487952	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	629	0.288003663003663	34	0.06910569105691057	105	0.2900552486187845	275	0.4807692307692308	215	0.2836411609498681	G	1.717	-0.497540	0.04291	0.093736	0.252674	ENSG00000142449	ENST00000270509	D	0.87809	-2.3	4.68	-0.659	0.11424	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.119782	0.53938	U	0.000046	T	0.00012	0.0000	N	0.25789	0.76	0.37245	P	0.09371399999999996	B	0.21688	0.059	B	0.23275	0.045	T	0.33033	-0.9884	9	0.27082	T	0.32	.	3.9566	0.09393	0.0885:0.1042:0.416:0.3914	rs12608849;rs52826951;rs60158242;rs12608849	1904	Q75N90	FBN3_HUMAN	F	1904	ENSP00000270509:L1904F	ENSP00000270509:L1904F	L	-	1	0	FBN3	8066334	0.022000	0.18835	0.960000	0.40013	0.804000	0.45430	0.137000	0.15995	0.053000	0.16036	-0.211000	0.12701	CTC	G|0.757;A|0.243	0.243	strong		0.552	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8160334	G	A	8160334	3	1	23	1	0	0	0	0	1	0	0	0	5704	1000	35	2	2795	2	FBN3	19	8160334	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	972	8160334	50968649	4186	20642										
FBN3	84467	hgsc.bcm.edu	37	chr19	8168545	8168545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgccagggccacagatgcCggagtgtgtggagcattcgt	17	9	0	1	rs33967815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8168545C>T	ENST00000600128.1	-	39	5254	c.4840G>A	c.(4840-4842)Ggc>Agc	p.G1614S	FBN3_ENST00000270509.2_Missense_Mutation_p.G1614S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1614S			Q75N90	FBN3_HUMAN	fibrillin 3	1614	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		G -> S (in dbSNP:rs33967815). {ECO:0000269|PubMed:14962672, ECO:0000269|PubMed:15221638}.			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACAGATGCCGGAGTGTGTG	0.557													C|||	690	0.13778	0.0507	0.1888	5008	,	,		19067	0.0476		0.2952	False		,,,				2504	0.1503				p.G1614S		Atlas-SNP	.											.	FBN3	300	.	0			c.G4840A						PASS	.	C	SER/GLY	377,4029	191.2+/-216.9	25,327,1851	114	98	103		4840	3.6	0.9	19	dbSNP_126	103	2900,5700	454.0+/-363.4	492,1916,1892	yes	missense	FBN3	NM_032447.3	56	517,2243,3743	TT,TC,CC		33.7209,8.5565,25.1961	possibly-damaging	1614/2810	8168545	3277,9729	2203	4300	6503	SO:0001583	missense	84467	exon38			AGATGCCGGAGTG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4840G>A	19.37:g.8168545C>T	ENSP00000470498:p.Gly1614Ser	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	199	109	0.547739	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	359	0.16437728937728938	30	0.06097560975609756	79	0.21823204419889503	28	0.04895104895104895	222	0.2928759894459103	C	18.38	3.610916	0.66558	0.085565	0.337209	ENSG00000142449	ENST00000270509	D	0.91631	-2.88	3.61	3.61	0.41365	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.00012	0.0000	L	0.31752	0.955	0.19300	P	0.9999791011	D	0.89917	1.0	D	0.91635	0.999	T	0.00025	-1.2319	9	0.24483	T	0.36	.	15.6061	0.76672	0.0:1.0:0.0:0.0	rs33967815	1614	Q75N90	FBN3_HUMAN	S	1614	ENSP00000270509:G1614S	ENSP00000270509:G1614S	G	-	1	0	FBN3	8074545	1.000000	0.71417	0.943000	0.38184	0.440000	0.31957	5.475000	0.66787	1.724000	0.51502	0.491000	0.48974	GGC	C|0.769;T|0.231	0.231	strong		0.557	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8168545	C	T	8168545	3	4	23	1	0	0	0	0	1	0	0	0	5704	652	23	1	3693	1	FBN3	19	8168545	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8211	8168545	50960438	4187	20643										
FBN3	84467	hgsc.bcm.edu	37	chr19	8191401	8191401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggctgccccgagggtggcGcagcactcagaccgcaggct	15	15	1	1	rs3813778	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8191401G>A	ENST00000600128.1	-	20	2919	c.2505C>T	c.(2503-2505)tgC>tgT	p.C835C	FBN3_ENST00000270509.2_Silent_p.C835C|FBN3_ENST00000601739.1_Silent_p.C835C			Q75N90	FBN3_HUMAN	fibrillin 3	835	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGAGGGTGGCGCAGCACTCAG	0.647													G|||	1316	0.26278	0.1309	0.2637	5008	,	,		15115	0.2758		0.4404	False		,,,				2504	0.2444				p.C835C		Atlas-SNP	.											FBN3,NS,carcinoma,0,1	FBN3	300	1	0			c.C2505T						scavenged	.	G		759,3645	298.1+/-285.1	77,605,1520	28	28	28		2505	-5.3	1	19	dbSNP_107	28	3876,4724	528.5+/-381.4	865,2146,1289	no	coding-synonymous	FBN3	NM_032447.3		942,2751,2809	AA,AG,GG		45.0698,17.2343,35.6429		835/2810	8191401	4635,8369	2202	4300	6502	SO:0001819	synonymous_variant	84467	exon19			GGTGGCGCAGCAC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2505C>T	19.37:g.8191401G>A		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	60	33	0.55	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.684;A|0.316	0.316	strong		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8191401	G	A	8191401	2	1	23	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8191401	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	22856	8191401	50937582	4188	20644										
FBN3	84467	hgsc.bcm.edu	37	chr19	8212263	8212263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgcagcctccaaggccccGtcccagcggccttggccacc	10	21	0	0	rs11878432	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8212263G>A	ENST00000600128.1	-	2	516	c.102C>T	c.(100-102)gaC>gaT	p.D34D	FBN3_ENST00000270509.2_Silent_p.D34D|FBN3_ENST00000601739.1_Silent_p.D34D			Q75N90	FBN3_HUMAN	fibrillin 3	34						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCAAGGCCCCGTCCCAGCGGC	0.692													G|||	1058	0.211262	0.1135	0.2075	5008	,	,		14258	0.2163		0.3499	False		,,,				2504	0.1984				p.D34D		Atlas-SNP	.											.	FBN3	300	.	0			c.C102T						PASS	.	G		724,3650		69,586,1532	11	13	12		102	-9.6	0	19	dbSNP_120	12	2897,5663		520,1857,1903	no	coding-synonymous	FBN3	NM_032447.3		589,2443,3435	AA,AG,GG		33.8435,16.5524,27.996		34/2810	8212263	3621,9313	2187	4280	6467	SO:0001819	synonymous_variant	84467	exon1			GGCCCCGTCCCAG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.102C>T	19.37:g.8212263G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	68	68	1	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			G|0.760;A|0.240	0.240	strong		0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8212263	G	A	8212263	2	1	23	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8212263	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20862	8212263	50916720	4189	20645										
KANK3	256949	hgsc.bcm.edu	37	chr19	8389405	8389405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcctgctcagcctccagGgcgatggccagggcactggt	13	14	2	0	rs12981073	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8389405G>A	ENST00000593649.1	-	10	2375	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	KANK3_ENST00000330915.3_Silent_p.A770A			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	770										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGCCTCCAGGGCGATGGCCA	0.632													G|||	769	0.153554	0.295	0.1383	5008	,	,		18814	0.0655		0.1223	False		,,,				2504	0.0961				p.A770A		Atlas-SNP	.											.	KANK3	35	.	0			c.C2310T						PASS	.	G		1101,3305	379.2+/-323.2	134,833,1236	26	26	26		2310	1.2	1	19	dbSNP_121	26	1053,7547	214.2+/-253.9	70,913,3317	no	coding-synonymous	KANK3	NM_198471.2		204,1746,4553	AA,AG,GG		12.2442,24.9887,16.5616		770/822	8389405	2154,10852	2203	4300	6503	SO:0001819	synonymous_variant	256949	exon10			CTCCAGGGCGATG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2310C>T	19.37:g.8389405G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	155	68	0.43871	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				G|0.840;A|0.159	0.159	strong		0.632	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		A	8389405	G	A	8389405	2	1	23	1	0	0	0	0	0	0	0	1	7978	1219	43	2		2	KANK3	19	8389405	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	177142	8389405	50739578	4190	20646										
KANK3	256949	hgsc.bcm.edu	37	chr19	8399272	8399272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttgggcaccaggtgtgccGtctctcttcttcatgatgga	13	10	4	1	rs8106699	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:8399272G>A	ENST00000593649.1	-	4	1424	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	KANK3_ENST00000330915.3_Silent_p.D453D			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	453										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGTGTGCCGTCTCTCTTCT	0.622													G|||	650	0.129792	0.2413	0.1239	5008	,	,		16175	0.0327		0.1153	False		,,,				2504	0.0982				p.D453D		Atlas-SNP	.											.	KANK3	35	.	0			c.C1359T						PASS	.	G		923,3483	351.3+/-311.2	89,745,1369	55	54	54		1359	-4.9	0	19	dbSNP_116	54	972,7626	212.0+/-252.4	67,838,3394	no	coding-synonymous	KANK3	NM_198471.2		156,1583,4763	AA,AG,GG		11.305,20.9487,14.5724		453/822	8399272	1895,11109	2203	4299	6502	SO:0001819	synonymous_variant	256949	exon4			TGTGCCGTCTCTC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1359C>T	19.37:g.8399272G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	97	45	0.463918	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				G|0.859;A|0.141	0.141	strong		0.622	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		A	8399272	G	A	8399272	2	1	23	1	0	0	0	0	0	0	0	1	7978	1136	40	1		1	KANK3	19	8399272	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9867	8399272	50729711	4191	20647										
MUC16	94025	hgsc.bcm.edu	37	chr19	9006749	9006749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagttgagtgtgaatggcaCcaggagagggccggtggcta	18	6	0	3	rs75444444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9006749C>T	ENST00000397910.4	-	44	39702	c.39499G>A	c.(39499-39501)Gtg>Atg	p.V13167M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13169	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGAATGGCACCAGGAGAGGG	0.428													c|||	993	0.198283	0.2859	0.1153	5008	,	,		20691	0.1399		0.1889	False		,,,				2504	0.2086				p.V13167M		Atlas-SNP	.											.	MUC16	4315	.	0			c.G39499A						PASS	.	T	MET/VAL	976,2894		134,708,1093	185	149	160		39499	-3.6	0	19	dbSNP_131	160	1604,6672		161,1282,2695	yes	missense	MUC16	NM_024690.2	21	295,1990,3788	TT,TC,CC		19.3813,25.2196,21.2416	possibly-damaging	13167/14508	9006749	2580,9566	1935	4138	6073	SO:0001583	missense	94025	exon44			ATGGCACCAGGAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39499G>A	19.37:g.9006749C>T	ENSP00000381008:p.Val13167Met	Somatic	254	1	0.00393701		WXS	Illumina HiSeq	Phase_I	277	276	0.99639	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	381|381	0.17445054945054944|0.17445054945054944	136|136	0.2764227642276423|0.2764227642276423	43|43	0.11878453038674033|0.11878453038674033	56|56	0.0979020979020979|0.0979020979020979	146|146	0.19261213720316622|0.19261213720316622	.|.	6.442|6.442	0.449704|0.449704	0.12223|0.12223	0.252196|0.252196	0.193813|0.193813	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.42513|.	0.97|.	2.99|2.99	-3.6|-3.6	0.04570|0.04570	.|.	.|.	.|.	.|.	.|.	T|.	0.00012|.	0.0000|.	L|L	0.49640|0.49640	1.575|1.575	.|.	.|.	.|.	P|.	0.50156|.	0.932|.	P|.	0.47134|.	0.539|.	T|.	0.28870|.	-1.0030|.	8|.	0.87932|.	D|.	0|.	-3.4762|-3.4762	3.4755|3.4755	0.07583|0.07583	0.1856:0.3374:0.0:0.477|0.1856:0.3374:0.0:0.477	.|.	13167|.	B5ME49|.	.|.	M|X	13167;298|6	ENSP00000381008:V13167M|.	ENSP00000381008:V13167M|.	V|W	-|-	1|3	0|0	MUC16|MUC16	8867749|8867749	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.453000|-3.453000	0.00465|0.00465	-0.648000|-0.648000	0.05437|0.05437	-1.000000|-1.000000	0.02509|0.02509	GTG|TGG	C|0.824;T|0.176	0.176	strong		0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9006749	C	T	9006749	3	4	23	1	0	0	0	0	1	0	0	0	9973	507	18	2	4188	2	MUC16	19	9006749	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	607477	9006749	50122234	4192	20648										
MUC16	94025	hgsc.bcm.edu	37	chr19	9048342	9048342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgaccagaggggtcaccaCtcctgataccccaggtgaaa	11	12	1	4	rs10854118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9048342C>T	ENST00000397910.4	-	5	33492	c.33289G>A	c.(33289-33291)Gtg>Atg	p.V11097M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11099	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V11097M(1)|p.V6730M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCACCACTCCTGATACC	0.512													C|||	2196	0.438498	0.4062	0.4092	5008	,	,		23561	0.497		0.4245	False		,,,				2504	0.4571				p.V11097M		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,0,2	MUC16	4315	2	2	Substitution - Missense(2)	stomach(2)	c.G33289A						PASS	.		MET/VAL	1540,2296		332,876,710	77	69	71		33289	-0.5	0	19	dbSNP_120	71	3319,4959		658,2003,1478	yes	missense	MUC16	NM_024690.2	21	990,2879,2188	TT,TC,CC		40.0942,40.146,40.1106	benign	11097/14508	9048342	4859,7255	1918	4139	6057	SO:0001583	missense	94025	exon5			TCACCACTCCTGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33289G>A	19.37:g.9048342C>T	ENSP00000381008:p.Val11097Met	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	149	85	0.57047	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	938	0.42948717948717946	183	0.3719512195121951	150	0.4143646408839779	283	0.49475524475524474	322	0.42480211081794195	c	4.287	0.052413	0.08291	0.40146	0.400942	ENSG00000181143	ENST00000397910	T	0.02837	4.14	2.96	-0.543	0.11851	.	.	.	.	.	T	0.00012	0.0000	L	0.35414	1.06	.	.	.	B	0.12630	0.006	B	0.13407	0.009	T	0.40270	-0.9572	8	0.87932	D	0	.	2.2098	0.03945	0.2278:0.2815:0.0:0.4908	rs10854118;rs10854118	11097	B5ME49	.	M	11097	ENSP00000381008:V11097M	ENSP00000381008:V11097M	V	-	1	0	MUC16	8909342	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.431000	0.00123	-0.200000	0.10300	-0.447000	0.05616	GTG	C|0.570;T|0.430	0.430	strong		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9048342	C	T	9048342	3	4	23	1	0	0	0	0	1	0	0	0	9973	565	20	2	10554	2	MUC16	19	9048342	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41593	9048342	50080641	4193	20649										
MUC16	94025	hgsc.bcm.edu	37	chr19	9059181	9059181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttccacagacagcgggcttGgccatgacacatcctcagga	10	13	1	2	rs12459532	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9059181G>A	ENST00000397910.4	-	3	28468	c.28265C>T	c.(28264-28266)cCa>cTa	p.P9422L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9424	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCGGGCTTGGCCATGACAC	0.512													G|||	182	0.0363419	0.0008	0.1153	5008	,	,		20341	0.0099		0.0189	False		,,,				2504	0.0736				p.P9422L		Atlas-SNP	.											.	MUC16	4315	.	0			c.C28265T						PASS	.	G	LEU/PRO	23,4023		0,23,2000	118	117	117		28265	0.8	0	19	dbSNP_120	117	177,8189		3,171,4009	yes	missense	MUC16	NM_024690.2	98	3,194,6009	AA,AG,GG		2.1157,0.5685,1.6113	benign	9422/14508	9059181	200,12212	2023	4183	6206	SO:0001583	missense	94025	exon3			GGGCTTGGCCATG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28265C>T	19.37:g.9059181G>A	ENSP00000381008:p.Pro9422Leu	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	170	102	0.6	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	53	0.024267399267399268	0	0.0	35	0.09668508287292818	4	0.006993006993006993	14	0.018469656992084433	g	4.312	0.057126	0.08339	0.005685	0.021157	ENSG00000181143	ENST00000397910	T	0.21031	2.03	1.95	0.802	0.18686	.	.	.	.	.	T	0.00328	0.0010	N	0.19112	0.55	.	.	.	B	0.27625	0.183	B	0.30943	0.122	T	0.21999	-1.0229	8	0.87932	D	0	.	5.1883	0.15195	0.0:0.0:0.6334:0.3666	rs12459532;rs12459532	9422	B5ME49	.	L	9422	ENSP00000381008:P9422L	ENSP00000381008:P9422L	P	-	2	0	MUC16	8920181	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.068000	0.11561	0.328000	0.23435	0.306000	0.20318	CCA	G|0.977;A|0.023	0.023	strong		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9059181	G	A	9059181	3	1	23	1	0	0	0	0	1	0	0	0	9973	1348	47	2	15586	2	MUC16	19	9059181	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10839	9059181	50069802	4194	20650										
MUC16	94025	hgsc.bcm.edu	37	chr19	9059307	9059307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgagtccaaggtaaaggtaCcctgcgaggtagccccagaa	12	10	0	2	rs12461695	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9059307C>T	ENST00000397910.4	-	3	28342	c.28139G>A	c.(28138-28140)gGt>gAt	p.G9380D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9382	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAAAGGTACCCTGCGAGGT	0.507													C|||	731	0.145966	0.0855	0.1787	5008	,	,		20436	0.2669		0.0865	False		,,,				2504	0.1411				p.G9380D		Atlas-SNP	.											MUC16_ENST00000397910,right_upper_lobe,carcinoma,-1,2	MUC16	4315	2	0			c.G28139A						PASS	.	C	ASP/GLY	381,3593		23,335,1629	140	139	140		28139	0.1	0	19	dbSNP_120	140	638,7666		25,588,3539	yes	missense	MUC16	NM_024690.2	94	48,923,5168	TT,TC,CC		7.683,9.5873,8.2994	possibly-damaging	9380/14508	9059307	1019,11259	1987	4152	6139	SO:0001583	missense	94025	exon3			AAGGTACCCTGCG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28139G>A	19.37:g.9059307C>T	ENSP00000381008:p.Gly9380Asp	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	243	136	0.559671	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	333	0.15247252747252749	38	0.07723577235772358	56	0.15469613259668508	169	0.29545454545454547	70	0.09234828496042216	c	4.216	0.038924	0.08148	0.095873	0.07683	ENSG00000181143	ENST00000397910	T	0.24538	1.85	1.94	0.0918	0.14469	.	.	.	.	.	T	0.00012	0.0000	L	0.32530	0.975	.	.	.	P	0.35456	0.502	B	0.38428	0.273	T	0.41610	-0.9499	8	0.87932	D	0	.	3.6378	0.08155	0.0:0.5627:0.0:0.4373	rs12461695	9380	B5ME49	.	D	9380	ENSP00000381008:G9380D	ENSP00000381008:G9380D	G	-	2	0	MUC16	8920307	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-2.733000	0.00803	0.046000	0.15833	0.306000	0.20318	GGT	C|0.861;T|0.139	0.139	strong		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9059307	C	T	9059307	3	4	23	1	0	0	0	0	1	0	0	0	9973	507	18	2	15712	2	MUC16	19	9059307	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	126	9059307	50069676	4195	20651										
MUC16	94025	hgsc.bcm.edu	37	chr19	9060915	9060915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagttttttccactgatgggCggcttggccatgacacatcc	10	11	0	2	rs59168469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9060915C>T	ENST00000397910.4	-	3	26734	c.26531G>A	c.(26530-26532)cGc>cAc	p.R8844H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8846	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGATGGGCGGCTTGGCCA	0.527													-|||	197	0.0393371	0.0098	0.1182	5008	,	,		19779	0.0109		0.0189	False		,,,				2504	0.0736				p.R8844H		Atlas-SNP	.											.	MUC16	4315	.	0			c.G26531A						PASS	.	G	HIS/ARG	34,4036		0,34,2001	144	138	140		26531	-3.5	0	19	dbSNP_129	140	176,8198		3,170,4014	yes	missense	MUC16	NM_024690.2	29	3,204,6015	TT,TC,CC		2.1017,0.8354,1.6876	probably-damaging	8844/14508	9060915	210,12234	2035	4187	6222	SO:0001583	missense	94025	exon3			GATGGGCGGCTTG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26531G>A	19.37:g.9060915C>T	ENSP00000381008:p.Arg8844His	Somatic	210	1	0.0047619		WXS	Illumina HiSeq	Phase_I	206	104	0.504854	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	56	0.02564102564102564	2	0.0040650406504065045	35	0.09668508287292818	5	0.008741258741258742	14	0.018469656992084433	-	12.50	1.957132	0.34565	0.008354	0.021017	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.05	-3.49	0.04724	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	8	0.87932	D	0	.	0.8073	0.01086	0.2741:0.3435:0.2095:0.1729	rs59168469	8844	B5ME49	.	H	8844	ENSP00000381008:R8844H	ENSP00000381008:R8844H	R	-	2	0	MUC16	8921915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.245000	0.08890	-1.368000	0.02149	-1.317000	0.01298	CGC	C|0.974;T|0.026	0.026	strong		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9060915	C	T	9060915	3	4	23	1	0	0	0	0	1	0	0	0	9973	768	27	1	17320	1	MUC16	19	9060915	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1608	9060915	50068068	4196	20652										
MUC16	94025	hgsc.bcm.edu	37	chr19	9065510	9065510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggatgggggaagtaggGaacttaatgatttttcttgt	14	4	1	1	rs1867692	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9065510G>A	ENST00000397910.4	-	3	22139	c.21936C>T	c.(21934-21936)ttC>ttT	p.F7312F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7314	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGTAGGGAACTTAATGA	0.453													N|||	906	0.180911	0.2458	0.1196	5008	,	,		22237	0.2679		0.0895	False		,,,				2504	0.1411				p.F7312F		Atlas-SNP	.											.	MUC16	4315	.	0			c.C21936T						PASS	.	G		844,3010		94,656,1177	143	138	140		21936	-0.8	0	19	dbSNP_92	140	642,7584		27,588,3498	no	coding-synonymous	MUC16	NM_024690.2		121,1244,4675	AA,AG,GG		7.8045,21.8993,12.3013		7312/14508	9065510	1486,10594	1927	4113	6040	SO:0001819	synonymous_variant	94025	exon3			AGTAGGGAACTTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21936C>T	19.37:g.9065510G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	60	32	0.533333	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			G|0.825;A|0.175	0.175	strong		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9065510	G	A	9065510	2	1	23	1	0	0	0	0	0	0	0	1	9973	1165	41	2		2	MUC16	19	9065510	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4595	9065510	50063473	4197	20653										
MUC16	94025	hgsc.bcm.edu	37	chr19	9066580	9066580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcattttgggaaatgctggTctctctcagtccaggagtca	12	9	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9066580T>C	ENST00000397910.4	-	3	21069	c.20866A>G	c.(20866-20868)Acc>Gcc	p.T6956A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6958	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATGCTGGTCTCTCTCAGT	0.448																																					p.T6956A		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,+2,3	MUC16	4315	3	0			c.A20866G						scavenged	.						152	147	149					19																	9066580		1939	4148	6087	SO:0001583	missense	94025	exon3			TGCTGGTCTCTCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20866A>G	19.37:g.9066580T>C	ENSP00000381008:p.Thr6956Ala	Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	197	4	0.0203046	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.869	-0.028217	0.07589	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.77	-2.73	0.05950	.	.	.	.	.	T	0.02571	0.0078	L	0.46157	1.445	.	.	.	B	0.23540	0.087	B	0.31614	0.133	T	0.42999	-0.9418	8	0.87932	D	0	.	3.3322	0.07088	0.5457:0.1287:0.0:0.3256	.	6956	B5ME49	.	A	6956	ENSP00000381008:T6956A	ENSP00000381008:T6956A	T	-	1	0	MUC16	8927580	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.024000	0.03603	-0.773000	0.04596	-0.876000	0.02978	ACC	.	.	none		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9066580	T	C	9066580	3	2	23	1	0	0	0	0	1	0	0	0	9973	1667	58	2	22985	2	MUC16	19	9066580	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1070	9066580	50062403	4198	20654										
MUC16	94025	hgsc.bcm.edu	37	chr19	9068990	9068990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttgtgtggcgatggtcttGtgtgtagatattgtcaaggg	16	3	2	1	rs35092547	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9068990G>T	ENST00000397910.4	-	3	18659	c.18456C>A	c.(18454-18456)caC>caA	p.H6152Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6154	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGATGGTCTTGTGTGTAGATA	0.507													g|||	49	0.00978435	0.0008	0.0216	5008	,	,		17653	0.001		0.0268	False		,,,				2504	0.0051				p.H6152Q		Atlas-SNP	.											.	MUC16	4315	.	0			c.C18456A						PASS	.	G	GLN/HIS	17,4221		0,17,2102	66	70	69		18456	-2.7	0	19	dbSNP_126	69	249,8207		5,239,3984	yes	missense	MUC16	NM_024690.2	24	5,256,6086	TT,TG,GG		2.9447,0.4011,2.0955	benign	6152/14508	9068990	266,12428	2119	4228	6347	SO:0001583	missense	94025	exon3			GGTCTTGTGTGTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18456C>A	19.37:g.9068990G>T	ENSP00000381008:p.His6152Gln	Somatic	620	0	0		WXS	Illumina HiSeq	Phase_I	619	307	0.495961	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	28	0.01282051282051282	0	0.0	6	0.016574585635359115	1	0.0017482517482517483	21	0.027704485488126648	g	2.171	-0.389912	0.04932	0.004011	0.029447	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.35	-2.71	0.05986	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	.	.	.	B	0.31174	0.311	B	0.20577	0.03	T	0.44452	-0.9327	8	0.87932	D	0	.	2.4961	0.04621	0.3275:0.0:0.4389:0.2335	rs35092547;rs61737587	6152	B5ME49	.	Q	6152	ENSP00000381008:H6152Q	ENSP00000381008:H6152Q	H	-	3	2	MUC16	8929990	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-2.276000	0.01161	-1.154000	0.02825	0.163000	0.16589	CAC	G|0.981;T|0.019	0.019	strong		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068990	G	T	9068990	3	4	23	1	0	0	0	0	1	0	0	0	9973	1368	48	4	25395	4	MUC16	19	9068990	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2410	9068990	50059993	4199	20655										
MUC16	94025	hgsc.bcm.edu	37	chr19	9070402	9070402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaggtgaactcgttacggGctctgggcttgttgtgccca	15	9	1	1	rs12150888	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9070402G>T	ENST00000397910.4	-	3	17247	c.17044C>A	c.(17044-17046)Ccc>Acc	p.P5682T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5684	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCGTTACGGGCTCTGGGCTT	0.512													g|||	819	0.163538	0.1142	0.2536	5008	,	,		20669	0.0089		0.2634	False		,,,				2504	0.2229				p.P5682T		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,+2,3	MUC16	4315	3	0			c.C17044A						PASS	.	A	THR/PRO	518,3486		33,452,1517	145	139	141		17044	-2.5	0	19	dbSNP_120	141	2434,5912		372,1690,2111	yes	missense	MUC16	NM_024690.2	38	405,2142,3628	TT,TG,GG		29.1637,12.9371,23.9028	probably-damaging	5682/14508	9070402	2952,9398	2002	4173	6175	SO:0001583	missense	94025	exon3			TTACGGGCTCTGG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17044C>A	19.37:g.9070402G>T	ENSP00000381008:p.Pro5682Thr	Somatic	382	1	0.0026178		WXS	Illumina HiSeq	Phase_I	412	203	0.492718	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	353	0.16163003663003664	53	0.10772357723577236	92	0.2541436464088398	5	0.008741258741258742	203	0.2678100263852243	g	1.261	-0.615735	0.03663	0.129371	0.291637	ENSG00000181143	ENST00000397910	T	0.35048	1.33	1.87	-2.48	0.06423	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	D	0.71674	0.998	P	0.58454	0.839	T	0.08126	-1.0737	7	0.87932	D	0	.	0.9034	0.01279	0.1587:0.2289:0.3795:0.2329	rs12150888;rs52815216;rs12150888	5682	B5ME49	.	T	5682	ENSP00000381008:P5682T	ENSP00000381008:P5682T	P	-	1	0	MUC16	8931402	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.309000	0.01130	-0.422000	0.07405	-1.549000	0.00901	CCC	G|0.815;T|0.185	0.185	strong		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9070402	G	T	9070402	3	4	23	1	0	0	0	0	1	0	0	0	9973	1203	42	4	26807	4	MUC16	19	9070402	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1412	9070402	50058581	4200	20656										
MUC16	94025	hgsc.bcm.edu	37	chr19	9071916	9071916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctctctcttaatgtttgtaGtctcagaggaaccatgcact	8	10	3	1	rs35346115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9071916G>A	ENST00000397910.4	-	3	15733	c.15530C>T	c.(15529-15531)aCt>aTt	p.T5177I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5179	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGTTTGTAGTCTCAGAGGA	0.478													G|||	49	0.00978435	0.0008	0.0216	5008	,	,		20472	0.001		0.0268	False		,,,				2504	0.0051				p.T5177I		Atlas-SNP	.											.	MUC16	4315	.	0			c.C15530T						PASS	.	G	ILE/THR	17,3971		0,17,1977	283	266	272		15530	0.6	0	19	dbSNP_126	272	253,8085		5,243,3921	yes	missense	MUC16	NM_024690.2	89	5,260,5898	AA,AG,GG		3.0343,0.4263,2.1905	probably-damaging	5177/14508	9071916	270,12056	1994	4169	6163	SO:0001583	missense	94025	exon3			TTTGTAGTCTCAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15530C>T	19.37:g.9071916G>A	ENSP00000381008:p.Thr5177Ile	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	163	78	0.478528	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	28	0.01282051282051282	0	0.0	6	0.016574585635359115	1	0.0017482517482517483	21	0.027704485488126648	g	2.171	-0.389853	0.04932	0.004263	0.030343	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.65	0.563	0.17296	.	.	.	.	.	T	0.11281	0.0275	L	0.55481	1.735	.	.	.	D	0.65815	0.995	P	0.51945	0.685	T	0.24621	-1.0155	8	0.87932	D	0	.	4.0586	0.09827	0.2293:0.0:0.7707:0.0	rs35346115	5177	B5ME49	.	I	5177	ENSP00000381008:T5177I	ENSP00000381008:T5177I	T	-	2	0	MUC16	8932916	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.111000	0.03303	0.269000	0.21961	0.121000	0.15741	ACT	G|0.980;A|0.020	0.020	strong		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9071916	G	A	9071916	3	1	23	1	0	0	0	0	1	0	0	0	9973	1029	36	2	28321	2	MUC16	19	9071916	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1514	9071916	50057067	4201	20657										
MUC16	94025	hgsc.bcm.edu	37	chr19	9072296	9072296	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagaaatcagggaaggtgtGgtcattgcaggtgaggacag	17	4	2	2	rs7254970	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9072296G>T	ENST00000397910.4	-	3	15353	c.15150C>A	c.(15148-15150)acC>acA	p.T5050T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5052	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGGTGTGGTCATTGCAG	0.468													G|||	844	0.16853	0.171	0.1844	5008	,	,		20301	0.0089		0.2634	False		,,,				2504	0.2209				p.T5050T		Atlas-SNP	.											.	MUC16	4315	.	0			c.C15150A						PASS	.			664,3246		60,544,1351	91	86	88		15150	0.5	0	19	dbSNP_116	88	2428,5862		370,1688,2087	no	coding-synonymous	MUC16	NM_024690.2		430,2232,3438	TT,TG,GG		29.2883,16.9821,25.3443		5050/14508	9072296	3092,9108	1955	4145	6100	SO:0001819	synonymous_variant	94025	exon3			AGGTGTGGTCATT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15150C>A	19.37:g.9072296G>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	120	59	0.491667	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			G|0.815;T|0.185	0.185	strong		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9072296	G	T	9072296	2	4	23	1	0	0	0	0	0	0	0	1	9973	1335	47	4		4	MUC16	19	9072296	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	380	9072296	50056687	4202	20658										
MUC16	94025	hgsc.bcm.edu	37	chr19	9074265	9074265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccctgtgttgcagctccaGtaggacctgtttgggtggtg	15	9	0	0	rs10406209	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9074265G>A	ENST00000397910.4	-	3	13384	c.13181C>T	c.(13180-13182)aCt>aTt	p.T4394I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4396	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGCTCCAGTAGGACCTGT	0.468													G|||	768	0.153355	0.1142	0.183	5008	,	,		23652	0.0089		0.2634	False		,,,				2504	0.2209				p.T4394I		Atlas-SNP	.											.	MUC16	4315	.	0			c.C13181T						PASS	.	G	ILE/THR	502,3590		32,438,1576	145	141	142		13181	0.5	0	19	dbSNP_119	142	2429,5961		370,1689,2136	yes	missense	MUC16	NM_024690.2	89	402,2127,3712	AA,AG,GG		28.9511,12.2678,23.4818	possibly-damaging	4394/14508	9074265	2931,9551	2046	4195	6241	SO:0001583	missense	94025	exon3			GCTCCAGTAGGAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13181C>T	19.37:g.9074265G>A	ENSP00000381008:p.Thr4394Ile	Somatic	357	0	0		WXS	Illumina HiSeq	Phase_I	372	187	0.502688	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	334	0.15293040293040294	53	0.10772357723577236	73	0.20165745856353592	5	0.008741258741258742	203	0.2678100263852243	g	3.708	-0.060188	0.07317	0.122678	0.289511	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.67	0.509	0.16977	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.34346	0.18	T	0.52170	-0.8611	8	0.87932	D	0	.	5.6254	0.17480	0.0:0.3493:0.6507:0.0	rs10406209;rs17515888;rs52837265;rs59614183;rs10406209	4394	B5ME49	.	I	4394	ENSP00000381008:T4394I	ENSP00000381008:T4394I	T	-	2	0	MUC16	8935265	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.366000	0.20365	0.231000	0.21079	0.305000	0.20034	ACT	G|0.826;A|0.174	0.174	strong		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9074265	G	A	9074265	3	1	23	1	0	0	0	0	1	0	0	0	9973	1029	36	2	30670	2	MUC16	19	9074265	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1969	9074265	50054718	4203	20659										
MUC16	94025	hgsc.bcm.edu	37	chr19	9075346	9075346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaacctggggaagagataaTacttgtttgtgtggttgagc	15	4	0	2	rs2591592	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9075346T>A	ENST00000397910.4	-	3	12303	c.12100A>T	c.(12100-12102)Att>Ttt	p.I4034F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4036	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGATAATACTTGTTTGT	0.473													t|||	2195	0.438299	0.4115	0.4683	5008	,	,		21847	0.2579		0.5755	False		,,,				2504	0.498				p.I4034F		Atlas-SNP	.											.	MUC16	4315	.	0			c.A12100T						PASS	.	T	PHE/ILE	1807,2223		407,993,615	119	113	115		12100	-1	0	19	dbSNP_100	115	4917,3395		1445,2027,684	yes	missense	MUC16	NM_024690.2	21	1852,3020,1299	AA,AT,TT		40.8446,44.8387,45.5194	probably-damaging	4034/14508	9075346	6724,5618	2015	4156	6171	SO:0001583	missense	94025	exon3			AGATAATACTTGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12100A>T	19.37:g.9075346T>A	ENSP00000381008:p.Ile4034Phe	Somatic	325	1	0.00307692		WXS	Illumina HiSeq	Phase_I	336	165	0.491071	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	936	0.42857142857142855	194	0.3943089430894309	180	0.4972375690607735	127	0.22202797202797203	435	0.5738786279683378	-	5.432	0.264864	0.10294	0.448387	0.591554	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.33	-1.05	0.10036	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	.	.	.	D	0.59767	0.986	P	0.53912	0.737	T	0.43605	-0.9381	8	0.87932	D	0	.	2.0719	0.03615	0.2508:0.3189:0.0:0.4302	rs2591592;rs52799163;rs2591592	4034	B5ME49	.	F	4034	ENSP00000381008:I4034F	ENSP00000381008:I4034F	I	-	1	0	MUC16	8936346	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.602000	0.05680	-0.363000	0.08101	0.260000	0.18958	ATT	T|0.558;A|0.442	0.442	strong		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9075346	T	A	9075346	3	1	23	1	0	0	0	0	1	0	0	0	9973	1406	49	5	31751	5	MUC16	19	9075346	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1081	9075346	50053637	4204	20660										
MUC16	94025	hgsc.bcm.edu	37	chr19	9082514	9082514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttgttccctcttcttctgCaatggtctggcttgaggtta	10	9	4	1	rs17000871	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9082514C>A	ENST00000397910.4	-	1	9504	c.9301G>T	c.(9301-9303)Gca>Tca	p.A3101S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3102	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTCTTCTGCAATGGTCTGG	0.483													c|||	863	0.172324	0.2496	0.1167	5008	,	,		17683	0.2292		0.0855	False		,,,				2504	0.138				p.A3101S		Atlas-SNP	.											.	MUC16	4315	.	0			c.G9301T						PASS	.	T	SER/ALA	843,3065		125,593,1236	267	276	273		9301	-1.1	0	19	dbSNP_123	273	635,7667		26,583,3542	yes	missense	MUC16	NM_024690.2	99	151,1176,4778	AA,AC,CC		7.6488,21.5711,12.1048	benign	3101/14508	9082514	1478,10732	1954	4151	6105	SO:0001583	missense	94025	exon1			CTTCTGCAATGGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9301G>T	19.37:g.9082514C>A	ENSP00000381008:p.Ala3101Ser	Somatic	419	0	0		WXS	Illumina HiSeq	Phase_I	387	190	0.490956	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	359	0.16437728937728938	106	0.21544715447154472	39	0.10773480662983426	146	0.25524475524475526	68	0.08970976253298153	t	0.394	-0.922017	0.02396	0.215711	0.076488	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.541	-1.08	0.09936	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	.	.	.	B	0.18166	0.026	B	0.15052	0.012	T	0.49762	-0.8905	7	0.87932	D	0	.	.	.	.	rs17000871;rs52804859;rs59318309;rs17000871	3101	B5ME49	.	S	3101	ENSP00000381008:A3101S	ENSP00000381008:A3101S	A	-	1	0	MUC16	8943514	0.019000	0.18553	0.001000	0.08648	0.005000	0.04900	-0.707000	0.05041	-2.646000	0.00426	-2.410000	0.00221	GCA	A|0.158;C|0.841;T|0.000	0.158	strong		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9082514	C	A	9082514	3	1	23	1	0	0	0	0	1	0	0	0	9973	710	25	4	34558	4	MUC16	19	9082514	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7168	9082514	50046469	4205	20661										
MUC16	94025	hgsc.bcm.edu	37	chr19	9088722	9088722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtagaagccacagccatagaGcctgggccattcgtggtctc	12	12	1	2	rs17000948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9088722G>A	ENST00000397910.4	-	1	3296	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1031	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCATAGAGCCTGGGCCAT	0.478													G|||	720	0.14377	0.1437	0.1124	5008	,	,		22388	0.2282		0.0855	False		,,,				2504	0.1391				p.G1031G		Atlas-SNP	.											.	MUC16	4315	.	0			c.C3093T						PASS	.	G		509,3445		39,431,1507	158	152	154		3093	1.5	0	19	dbSNP_123	154	628,7686		25,578,3554	no	coding-synonymous	MUC16	NM_024690.2		64,1009,5061	AA,AG,GG		7.5535,12.873,9.268		1031/14508	9088722	1137,11131	1977	4157	6134	SO:0001819	synonymous_variant	94025	exon1			CATAGAGCCTGGG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3093C>T	19.37:g.9088722G>A		Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	242	117	0.483471	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			G|0.860;A|0.140	0.140	strong		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9088722	G	A	9088722	2	1	23	1	0	0	0	0	0	0	0	1	9973	958	34	2		2	MUC16	19	9088722	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6208	9088722	50040261	4206	20662										
ZNF317	57693	hgsc.bcm.edu	37	chr19	9267319	9267319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggattccacctgtctccaGgactcagaatttcctgtttc	7	13	2	1	rs3752199	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9267319G>T	ENST00000247956.6	+	3	362	c.57G>T	c.(55-57)caG>caT	p.Q19H	ZNF317_ENST00000360385.3_Missense_Mutation_p.Q19H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	19			Q -> H (in dbSNP:rs3752199).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q19H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CCTGTCTCCAGGACTCAGAAT	0.498													G|||	646	0.128994	0.0408	0.1657	5008	,	,		19806	0.1488		0.1998	False		,,,				2504	0.1288				p.Q19H		Atlas-SNP	.											ZNF317,NS,carcinoma,0,1	ZNF317	61	1	1	Substitution - Missense(1)	stomach(1)	c.G57T						PASS	.	G	HIS/GLN,HIS/GLN	321,4085	169.8+/-200.3	8,305,1890	163	164	163		57,57	-3.5	0	19	dbSNP_107	163	1593,7007	297.8+/-303.6	164,1265,2871	yes	missense,missense	ZNF317	NM_001190791.1,NM_020933.4	24,24	172,1570,4761	TT,TG,GG		18.5233,7.2855,14.7163	benign,benign	19/564,19/596	9267319	1914,11092	2203	4300	6503	SO:0001583	missense	57693	exon3			TCTCCAGGACTCA	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.57G>T	19.37:g.9267319G>T	ENSP00000247956:p.Gln19His	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_020933	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	312	0.14285714285714285	23	0.046747967479674794	57	0.1574585635359116	76	0.13286713286713286	156	0.20580474934036938	G	2.367	-0.345291	0.05208	0.072855	0.185233	ENSG00000130803	ENST00000247956;ENST00000360385;ENST00000419608	T;T	0.07908	3.42;3.15	3.04	-3.55	0.04639	.	0.424674	0.17436	N	0.174304	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44143	-0.9347	9	0.34782	T	0.22	-9.111	2.7311	0.05227	0.3513:0.0:0.2805:0.3682	rs3752199;rs17205997;rs59177470;rs3752199	19;19	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	H	19;19;33	ENSP00000247956:Q19H;ENSP00000353554:Q19H	ENSP00000247956:Q19H	Q	+	3	2	ZNF317	9128319	0.001000	0.12720	0.021000	0.16686	0.279000	0.26890	-0.351000	0.07711	-0.647000	0.05444	-0.225000	0.12378	CAG	G|0.865;T|0.135	0.135	strong		0.498	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		T	9267319	G	T	9267319	3	4	23	1	0	0	0	0	1	0	0	0	17832	991	35	4	63	4	ZNF317	19	9267319	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	178597	9267319	49861664	4207	20663										
ZNF177	7730	hgsc.bcm.edu	37	chr19	9492141	9492141	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gactgtggaaaagccttcatCgatcagtcatcccttaagaa	8	10	3	1	rs3826783	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9492141C>T	ENST00000589262.1	+	6	1200	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Silent_p.I218I|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Silent_p.I218I|ZNF177_ENST00000434737.2_Silent_p.I378I|ZNF177_ENST00000343499.4_Silent_p.I218I|ZNF177_ENST00000602856.1_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	378					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAGCCTTCATCGATCAGTCAT	0.473													C|||	2724	0.54393	0.5908	0.5375	5008	,	,		22704	0.4504		0.5606	False		,,,				2504	0.5644				p.I378I		Atlas-SNP	.											.	ZNF177	57	.	0			c.C1134T						PASS	.	C	,,,	2662,1744	647.5+/-398.6	793,1076,334	170	170	170		654,1134,,654	-0.7	0.1	19	dbSNP_107	170	5011,3589	627.4+/-398.0	1465,2081,754	no	coding-synonymous,coding-synonymous,utr-3,coding-synonymous	ZNF177,ZNF559-ZNF177	NM_001172650.2,NM_001172651.1,NM_001202425.1,NM_003451.2	,,,	2258,3157,1088	TT,TC,CC		41.7326,39.5824,41.0042	,,,	218/322,378/482,,218/322	9492141	7673,5333	2203	4300	6503	SO:0001819	synonymous_variant	7730	exon6			CTTCATCGATCAG	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1134C>T	19.37:g.9492141C>T		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	157	68	0.433121	NM_001172651	B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	ENST00000589262.1	37	CCDS54214.1																																																																																			C|0.431;T|0.569	0.569	strong		0.473	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		T	9492141	C	T	9492141	2	4	23	1	0	0	0	0	0	0	0	1	17743	874	31	1		1	ZNF177	19	9492141	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	224822	9492141	49636842	4208	20664										
ZNF560	147741	hgsc.bcm.edu	37	chr19	9579809	9579809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccatttaatgtttttaaaCaaaaattatcttgccaaagg	4	7	1	0	rs61737643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:9579809C>A	ENST00000301480.4	-	9	797	c.584G>T	c.(583-585)tGt>tTt	p.C195F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	195					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTTTTTAAACAAAAATTATC	0.313													C|||	5	0.000998403	0.0	0.0029	5008	,	,		18821	0.0		0.003	False		,,,				2504	0.0				p.C195F		Atlas-SNP	.											.	ZNF560	162	.	0			c.G584T						PASS	.	C	PHE/CYS	6,4398		0,6,2196	29	30	30		584	0.9	0	19	dbSNP_129	30	23,8571		0,23,4274	yes	missense	ZNF560	NM_152476.2	205	0,29,6470	AA,AC,CC		0.2676,0.1362,0.2231	possibly-damaging	195/791	9579809	29,12969	2202	4297	6499	SO:0001583	missense	147741	exon9			TTTAAACAAAAAT	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.584G>T	19.37:g.9579809C>A	ENSP00000301480:p.Cys195Phe	Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	194	85	0.438144	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	4.197	0.035323	0.08148	0.001362	0.002676	ENSG00000198028	ENST00000301480	T	0.05258	3.47	1.99	0.933	0.19471	.	.	.	.	.	T	0.01940	0.0061	N	0.13098	0.295	0.09310	N	1	B	0.32010	0.351	B	0.19148	0.024	T	0.43637	-0.9379	9	0.38643	T	0.18	.	3.29	0.06945	0.0:0.5484:0.2782:0.1734	.	195	Q96MR9	ZN560_HUMAN	F	195	ENSP00000301480:C195F	ENSP00000301480:C195F	C	-	2	0	ZNF560	9440809	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.516000	0.06282	0.386000	0.24997	0.555000	0.69702	TGT	C|0.997;A|0.003	0.003	strong		0.313	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		A	9579809	C	A	9579809	3	1	23	1	0	0	0	0	1	0	0	0	17988	478	17	4	1796	4	ZNF560	19	9579809	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	87668	9579809	49549174	4209	20665										
EIF3G	5032	hgsc.bcm.edu	37	chr19	10226256	10226256	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggtggaagctgatgaaggcAaagccctgtggaggggcggg	20	7	0	2	rs7710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:10226256A>G	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.F282F	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGATGAAGGCAAAGCCCTGTG	0.667													G|||	2273	0.453874	0.407	0.5303	5008	,	,		14409	0.371		0.494	False		,,,				2504	0.5072				p.F282F		Atlas-SNP	.											.	EIF3G	16	.	0			c.T846C						PASS	.	G		1779,2627	638.1+/-396.9	350,1079,774	49	49	49		846	-1.9	1	19	dbSNP_52	49	3911,4687	602.8+/-394.6	895,2121,1283	no	coding-synonymous	EIF3G	NM_003755.3		1245,3200,2057	GG,GA,AA		45.4873,40.3768,43.7558		282/321	10226256	5690,7314	2203	4299	6502	SO:0001628	intergenic_variant	8666	exon10			GAAGGCAAAGCCC	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226256A>G		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	99	46	0.464646	NM_003755	B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	CCDS12226.1																																																																																			A|0.564;G|0.436	0.436	strong		0.667	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		G	10226256	A	G	10226256	1	3	23	0	1	0	0	0	0	0	0	0	5017	127	5	2		2	EIF3G	19	10226256	IGR	SNP	A	TCGA-GR-7353-01A-11D-2210-10	646447	10226256	48902727	4210	20666										
DNMT1	1786	hgsc.bcm.edu	37	chr19	10265593	10265593	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcttacctcgatcttgttGatcaggtcctcataggtcga	8	11	4	1	rs2228613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:10265593G>T	ENST00000340748.4	-	19	1819	c.1584C>A	c.(1582-1584)atC>atA	p.I528I	DNMT1_ENST00000540357.1_Silent_p.I528I|DNMT1_ENST00000359526.4_Silent_p.I544I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	528	DNA replication foci-targeting sequence. {ECO:0000250}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CGATCTTGTTGATCAGGTCCT	0.498													G|||	199	0.0397364	0.0212	0.0403	5008	,	,		21065	0.001		0.0865	False		,,,				2504	0.0562				p.I544I		Atlas-SNP	.											.	DNMT1	148	.	0			c.C1632A						PASS	.	G	,	168,4238	112.1+/-150.2	2,164,2037	133	112	119		1632,1584	3.4	1	19	dbSNP_98	119	802,7798	187.9+/-235.0	37,728,3535	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	39,892,5572	TT,TG,GG		9.3256,3.813,7.4581	,	544/1633,528/1617	10265593	970,12036	2203	4300	6503	SO:0001819	synonymous_variant	1786	exon20			CTTGTTGATCAGG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1584C>A	19.37:g.10265593G>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	116	59	0.508621	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																			T|0.063;G|0.937;C|0.000	0.063	strong		0.498	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		T	10265593	G	T	10265593	2	4	23	1	0	0	0	0	0	0	0	1	4675	1280	45	4		4	DNMT1	19	10265593	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39337	10265593	48863390	4211	20667										
TYK2	7297	hgsc.bcm.edu	37	chr19	10463118	10463118	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggctctcaccgtgggggGgctctggctggagtcacagt	16	12	3	0	rs34536443	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:10463118G>C	ENST00000525621.1	-	23	3791	c.3310C>G	c.(3310-3312)Ccc>Gcc	p.P1104A	TYK2_ENST00000264818.6_Missense_Mutation_p.P1104A|TYK2_ENST00000524462.1_Missense_Mutation_p.P919A|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1104	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> A (in dbSNP:rs34536443). {ECO:0000269|PubMed:17344846}.		cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCGTGGGGGGGCTCTGGCTG	0.592													g|||	51	0.0101837	0.0015	0.0202	5008	,	,		14995	0.0		0.0288	False		,,,				2504	0.0061				p.P1104A		Atlas-SNP	.											.	TYK2	126	.	0			c.C3310G	GRCh37	CM070300	TYK2	M	rs34536443	PASS	.	G	ALA/PRO	30,4376	36.0+/-67.5	0,30,2173	69	76	73		3310	4.3	1	19	dbSNP_126	73	347,8253	117.0+/-176.6	4,339,3957	yes	missense	TYK2	NM_003331.4	27	4,369,6130	CC,CG,GG		4.0349,0.6809,2.8987	probably-damaging	1104/1188	10463118	377,12629	2203	4300	6503	SO:0001583	missense	7297	exon23			TGGGGGGGCTCTG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3310C>G	19.37:g.10463118G>C	ENSP00000431885:p.Pro1104Ala	Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	260	160	0.615385	NM_003331	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	31	0.014194139194139194	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	23	0.030343007915567283	G	24.3	4.511294	0.85389	0.006809	0.040349	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	T;T;T;D	0.82344	-1.32;-1.32;-1.32;-1.6	5.35	4.32	0.51571	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.273195	0.25750	N	0.028545	T	0.71617	0.3361	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82143	-0.0603	10	0.87932	D	0	-42.3966	11.8328	0.52305	0.0853:0.0:0.9147:0.0	rs34536443	1104	P29597	TYK2_HUMAN	A	919;1104;1104;851;127	ENSP00000433203:P919A;ENSP00000431885:P1104A;ENSP00000264818:P1104A;ENSP00000436155:P127A	ENSP00000264818:P1104A	P	-	1	0	TYK2	10324118	1.000000	0.71417	0.978000	0.43139	0.888000	0.51559	7.317000	0.79018	1.283000	0.44513	0.549000	0.68633	CCC	G|0.975;C|0.025	0.025	strong		0.592	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			C	10463118	G	C	10463118	3	2	23	1	0	0	0	0	1	0	0	0	16807	1232	43	4	265	4	TYK2	19	10463118	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	197525	10463118	48665865	4212	20668										
PDE4A	5141	hgsc.bcm.edu	37	chr19	10577843	10577843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcccaagaggcattgactgCgcagggattgtcaggagtcg	15	9	1	2	rs1051738	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:10577843C>A	ENST00000352831.6	+	15	2317	c.2207C>A	c.(2206-2208)gCg>gAg	p.A736E	PDE4A_ENST00000380702.2_Missense_Mutation_p.A714E|PDE4A_ENST00000592685.1_Missense_Mutation_p.A714E|PDE4A_ENST00000440014.2_Missense_Mutation_p.A675E|PDE4A_ENST00000344979.3_Missense_Mutation_p.A497E|PDE4A_ENST00000293683.5_Missense_Mutation_p.A710E	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	736			A -> E (in dbSNP:rs1051738). {ECO:0000269|PubMed:2160582, ECO:0000269|PubMed:7772058}.		cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.A497E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCATTGACTGCGCAGGGATTG	0.562													c|||	943	0.188299	0.3033	0.1369	5008	,	,		20073	0.1389		0.1521	False		,,,				2504	0.1575				p.A736E		Atlas-SNP	.											PDE4A,NS,carcinoma,0,1	PDE4A	236	1	1	Substitution - Missense(1)	stomach(1)	c.C2207A						PASS	.		GLU/ALA,GLU/ALA,GLU/ALA,GLU/ALA	1259,3147	430.6+/-342.6	174,911,1118	79	68	72		2207,2129,2024,1490	-4.4	0	19	dbSNP_86	72	1536,7064	288.5+/-298.8	136,1264,2900	yes	missense,missense,missense,missense	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	107,107,107,107	310,2175,4018	AA,AC,CC		17.8605,28.5747,21.4901	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	736/887,710/861,675/826,497/648	10577843	2795,10211	2203	4300	6503	SO:0001583	missense	5141	exon15			TGACTGCGCAGGG		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2207C>A	19.37:g.10577843C>A	ENSP00000270474:p.Ala736Glu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	115	113	0.982609	NM_001111307	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	388	0.17765567765567766	141	0.2865853658536585	60	0.16574585635359115	64	0.11188811188811189	123	0.16226912928759896	c	12.92	2.081865	0.36758	0.285747	0.178605	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.68181	-0.29;-0.29;-0.31;-0.29;-0.02	4.22	-4.39	0.03611	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P;P;B	0.45044	0.524;0.712;0.849;0.22	B;B;B;B	0.43990	0.209;0.209;0.438;0.13	T	0.04153	-1.0973	8	0.20046	T	0.44	.	1.5445	0.02562	0.1194:0.281:0.2644:0.3353	rs1051738;rs3192118;rs12985325;rs17000756;rs17000757;rs52837164;rs56425781;rs60390680;rs1051738	497;675;710;736	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	E	714;736;710;675;497	ENSP00000370078:A714E;ENSP00000270474:A736E;ENSP00000293683:A710E;ENSP00000394754:A675E;ENSP00000341007:A497E	ENSP00000293683:A710E	A	+	2	0	PDE4A	10438843	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.502000	0.02279	-0.449000	0.07117	-0.330000	0.08379	GCG	A|0.205;C|0.795	0.205	strong		0.562	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			A	10577843	C	A	10577843	3	1	23	1	0	0	0	0	1	0	0	0	11639	768	27	4	2722	4	PDE4A	19	10577843	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	114725	10577843	48551140	4213	20669										
SMARCA4	6597	hgsc.bcm.edu	37	chr19	11170839	11170839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagccggtcgtgagtgacgaTgacagtgaggaggaacaaga	16	6	0	5	rs7275	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11170839T>C	ENST00000429416.3	+	35	5168	c.4887T>C	c.(4885-4887)gaT>gaC	p.D1629D	SMARCA4_ENST00000358026.2_Silent_p.D1661D|SMARCA4_ENST00000589677.1_Silent_p.D1598D|SMARCA4_ENST00000413806.3_Silent_p.D1599D|SMARCA4_ENST00000590574.1_Silent_p.D1596D|SMARCA4_ENST00000450717.3_Silent_p.D1598D|SMARCA4_ENST00000344626.4_Silent_p.D1629D|SMARCA4_ENST00000541122.2_Silent_p.D1599D|SMARCA4_ENST00000444061.3_Silent_p.D1595D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1629					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGAGTGACGATGACAGTGAGG	0.687			"F, N, Mis"		NSCLC								C|||	1251	0.2498	0.3094	0.1715	5008	,	,		14726	0.0724		0.2942	False		,,,				2504	0.362				p.D1661D		Atlas-SNP	.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	SMARCA4_ENST00000358026,caecum,carcinoma,0,2	SMARCA4	502	2	1	Unknown(1)	lung(1)	c.T4983C						PASS	.	C	,,,,,,	1060,2890		143,774,1058	26	31	29		4887,4797,4794,4788,4785,4983,4887	-5.1	0	19	dbSNP_52	29	1961,5729		253,1455,2137	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	,,,,,,	396,2229,3195	CC,CT,TT		25.5007,26.8354,25.9536	,,,,,,	1629/1648,1599/1618,1598/1617,1596/1615,1595/1614,1661/1680,1629/1648	11170839	3021,8619	1975	3845	5820	SO:0001819	synonymous_variant	6597	exon35			TGACGATGACAGT	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4887T>C	19.37:g.11170839T>C		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	52	50	0.961538	NM_001128849	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																			T|0.776;C|0.224	0.224	strong		0.687	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11170839	T	C	11170839	2	2	23	1	0	0	0	0	0	0	0	1	14770	1461	51	2		2	SMARCA4	19	11170839	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	592996	11170839	47958144	4214	20670										
KANK2	25959	hgsc.bcm.edu	37	chr19	11303943	11303943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgcccaagtcccgttctcgAacccaggtgcccacactccg	8	18	1	0	rs3745681	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11303943A>G	ENST00000586659.1	-	4	1127	c.813T>C	c.(811-813)gtT>gtC	p.V271V	KANK2_ENST00000589359.1_Silent_p.V271V|KANK2_ENST00000432929.2_Silent_p.V271V|KANK2_ENST00000589894.1_Silent_p.V271V|KANK2_ENST00000355150.5_Silent_p.V271V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	271					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCGTTCTCGAACCCAGGTGC	0.692													G|||	2531	0.505391	0.6483	0.4265	5008	,	,		15958	0.4514		0.3787	False		,,,				2504	0.5542				p.V271V		Atlas-SNP	.											KANK2,NS,carcinoma,0,1	KANK2	47	1	0			c.T813C						PASS	.	G	,	2625,1773		791,1043,365	26	28	27		813,813	-2.5	0.9	19	dbSNP_107	27	3333,5259		652,2029,1615	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	1443,3072,1980	GG,GA,AA		38.7919,40.3138,45.8661	,	271/852,271/860	11303943	5958,7032	2199	4296	6495	SO:0001819	synonymous_variant	25959	exon2			TTCTCGAACCCAG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.813T>C	19.37:g.11303943A>G		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	38	20	0.526316	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																			A|0.544;G|0.456	0.456	strong		0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		G	11303943	A	G	11303943	2	3	23	1	0	0	0	0	0	0	0	1	7977	233	9	2		2	KANK2	19	11303943	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	133104	11303943	47825040	4215	20671										
KANK2	25959	hgsc.bcm.edu	37	chr19	11305161	11305161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcccctgacctgggaagggAgcaggcacgtgcaggacctg	16	12	0	1	rs754529	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11305161A>G	ENST00000586659.1	-	3	341	c.27T>C	c.(25-27)gcT>gcC	p.A9A	KANK2_ENST00000589359.1_Silent_p.A9A|KANK2_ENST00000432929.2_Silent_p.A9A|KANK2_ENST00000589894.1_Silent_p.A9A|KANK2_ENST00000355150.5_Silent_p.A9A			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	9	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGGGAAGGGAGCAGGCACGT	0.632													G|||	258	0.0515176	0.0499	0.1066	5008	,	,		15242	0.0129		0.0706	False		,,,				2504	0.0348				p.A9A		Atlas-SNP	.											.	KANK2	47	.	0			c.T27C						PASS	.	G	,	252,4154	800.1+/-415.6	5,242,1956	73	60	64		27,27	-0.2	1	19	dbSNP_86	64	719,7881	784.9+/-407.6	28,663,3609	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	33,905,5565	GG,GA,AA		8.3605,5.7195,7.4658	,	9/852,9/860	11305161	971,12035	2203	4300	6503	SO:0001819	synonymous_variant	25959	exon1			GAAGGGAGCAGGC	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.27T>C	19.37:g.11305161A>G		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	43	20	0.465116	NM_015493	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																			A|0.932;G|0.068	0.068	strong		0.632	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		G	11305161	A	G	11305161	2	3	23	1	0	0	0	0	0	0	0	1	7977	291	11	3		3	KANK2	19	11305161	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1218	11305161	47823822	4216	20672										
CCDC159	126075	hgsc.bcm.edu	37	chr19	11465311	11465311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctcctgggactctgactcCgactgtgaccaggacctctc	9	17	2	2	rs374274390	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11465311C>T	ENST00000588790.1	+	12	1275	c.828C>T	c.(826-828)tcC>tcT	p.S276S	DKFZP761J1410_ENST00000251473.5_5'Flank|CCDC159_ENST00000458408.1_Silent_p.S276S|DKFZP761J1410_ENST00000591608.1_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	391										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						ACTCTGACTCCGACTGTGACC	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		16082	0.0		0.002	False		,,,				2504	0.001				p.S276S		Atlas-SNP	.											.	CCDC159	35	.	0			c.C828T						PASS	.	C		3,4397		0,3,2197	31	39	36		828	-8.8	0	19		36	33,8555		0,33,4261	no	coding-synonymous	CCDC159	NM_001080503.2		0,36,6458	TT,TC,CC		0.3843,0.0682,0.2772		276/298	11465311	36,12952	2200	4294	6494	SO:0001819	synonymous_variant	126075	exon10			TGACTCCGACTGT	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.828C>T	19.37:g.11465311C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	124	59	0.475806	NM_001080503	B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	CCDS45976.1																																																																																			.	.	weak		0.647	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		T	11465311	C	T	11465311	2	4	23	1	0	0	0	0	0	0	0	1	2791	639	23	1		1	CCDC159	19	11465311	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	160150	11465311	47663672	4217	20673										
C19orf39	126074	hgsc.bcm.edu	37	chr19	11486354	11486354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgcctacctcattgccttaCttctagacacagctgcccac	5	18	2	1	rs146815699	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11486354C>A	ENST00000312423.2	+	2	411	c.352C>A	c.(352-354)Ctt>Att	p.L118I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	118					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										CATTGCCTTACTTCTAGACAC	0.652													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17164	0.0		0.002	False		,,,				2504	0.0				p.L118I		Atlas-SNP	.											.	.	.	.	0			c.C352A						PASS	.	C	ILE/LEU	5,4401	9.9+/-24.2	0,5,2198	73	72	72		352	5.3	1	19	dbSNP_134	72	39,8561	26.8+/-75.7	0,39,4261	yes	missense	C19orf39	NM_175871.3	5	0,44,6459	AA,AC,CC		0.4535,0.1135,0.3383	possibly-damaging	118/230	11486354	44,12962	2203	4300	6503	SO:0001583	missense	126074	exon2			GCCTTACTTCTAG	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.352C>A	19.37:g.11486354C>A	ENSP00000310008:p.Leu118Ile	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	66	25	0.378788	NM_175871	Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	CCDS12259.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	24.3	4.520751	0.85495	0.001135	0.004535	ENSG00000173928	ENST00000312423	T	0.41400	1.0	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000007	T	0.63307	0.2500	M	0.65975	2.015	0.45216	D	0.998223	D	0.76494	0.999	D	0.87578	0.998	T	0.65038	-0.6265	10	0.59425	D	0.04	-11.7403	15.9252	0.79611	0.0:1.0:0.0:0.0	.	118	Q6NVH7	CS039_HUMAN	I	118	ENSP00000310008:L118I	ENSP00000310008:L118I	L	+	1	0	C19orf39	11347354	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	4.466000	0.60148	2.489000	0.83994	0.655000	0.94253	CTT	C|0.997;A|0.003	0.003	strong		0.652	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		A	11486354	C	A	11486354	3	1	23	1	0	0	0	0	1	0	0	0	1922	565	20	4	358	4	C19orf39	19	11486354	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21043	11486354	47642629	4218	20674										
ZNF440	126070	hgsc.bcm.edu	37	chr19	11943713	11943713	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaagccctatgcatgtaagGaatgtgggaaacccttcgga	12	8	0	1	rs56167415	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:11943713G>A	ENST00000304060.5	+	4	1886	c.1722G>A	c.(1720-1722)agG>agA	p.R574R		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	574					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCATGTAAGGAATGTGGGAA	0.453													g|||	338	0.067492	0.0083	0.1023	5008	,	,		22084	0.0		0.2048	False		,,,				2504	0.0511				p.R574R		Atlas-SNP	.											.	ZNF440	56	.	0			c.G1722A						PASS	.	G		174,4206	102.1+/-140.7	2,170,2018	66	65	65		1722	-1.6	0	19	dbSNP_129	65	1845,6735	313.5+/-311.4	184,1477,2629	no	coding-synonymous	ZNF440	NM_152357.2		186,1647,4647	AA,AG,GG		21.5035,3.9726,15.5787		574/596	11943713	2019,10941	2190	4290	6480	SO:0001819	synonymous_variant	126070	exon4			TGTAAGGAATGTG	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1722G>A	19.37:g.11943713G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	58	20	0.344828	NM_152357	Q8N1R9	Silent	SNP	ENST00000304060.5	37	CCDS42503.1																																																																																			G|0.863;A|0.137	0.137	strong		0.453	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		A	11943713	G	A	11943713	2	1	23	1	0	0	0	0	0	0	0	1	17910	1165	41	2		2	ZNF440	19	11943713	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	457359	11943713	47185270	4219	20675										
ZNF433	163059	hgsc.bcm.edu	37	chr19	12126128	12126128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatgatatcgaaaggagctCgaacagttgaaggatctgcc	11	9	1	2	rs79356451		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:12126128C>T	ENST00000344980.6	-	4	1724	c.1554G>A	c.(1552-1554)tcG>tcA	p.S518S	ZNF433_ENST00000419886.2_Silent_p.S483S|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GAAAGGAGCTCGAACAGTTGA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		23439	0.0		0.001	False		,,,				2504	0.0				p.S518S		Atlas-SNP	.											ZNF433,colon,carcinoma,-1,2	ZNF433	49	2	0			c.G1554A						scavenged	.	C		0,4398		0,0,2199	71	76	74		1554	-2.4	0	19	dbSNP_132	74	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	ZNF433	NM_001080411.1		0,4,6494	TT,TC,CC		0.0465,0.0,0.0308		518/674	12126128	4,12992	2199	4299	6498	SO:0001819	synonymous_variant	163059	exon4			GGAGCTCGAACAG	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1554G>A	19.37:g.12126128C>T		Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	153	84	0.54902	NM_001080411	Q86VX3	Silent	SNP	ENST00000344980.6	37	CCDS45983.1																																																																																			C|0.999;T|0.001	0.001	strong		0.433	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		T	12126128	C	T	12126128	2	4	23	1	0	0	0	0	0	0	0	1	17904	871	31	1		1	ZNF433	19	12126128	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	182415	12126128	47002855	4220	20676										
ZNF709	163051	hgsc.bcm.edu	37	chr19	12575152	12575152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttacattcatagggtttctcCccagtgtgagtcctttcatg	8	10	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:12575152C>T	ENST00000397732.3	-	4	1755	c.1584G>A	c.(1582-1584)ggG>ggA	p.G528G	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.G528G	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G528G(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGGGTTTCTCCCCAGTGTGAG	0.423																																					p.G528G	GBM(33;565 669 12371 29134 51667)	Atlas-SNP	.											ZNF709_ENST00000397732,NS,carcinoma,0,4	ZNF709	80	4	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.G1584A						scavenged	.																																			SO:0001819	synonymous_variant	163051	exon4			TTTCTCCCCAGTG	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1584G>A	19.37:g.12575152C>T		Somatic	128	3	0.0234375		WXS	Illumina HiSeq	Phase_I	92	3	0.0326087	NM_152601	A8K4E6	Silent	SNP	ENST00000397732.3	37	CCDS42504.1																																																																																			.	.	none		0.423	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12575152	C	T	12575152	2	4	23	1	0	0	0	0	0	0	0	1	18110	610	22	2		2	ZNF709	19	12575152	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	449024	12575152	46553831	4221	20677										
HOOK2	29911	hgsc.bcm.edu	37	chr19	12876964	12876964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcggttggcatcctccagGtggcgctgcagctcctcctg	14	15	0	0	rs897804	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:12876964G>C	ENST00000397668.3	-	15	1537	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q	HOOK2_ENST00000264827.5_Missense_Mutation_p.H488Q|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	488	Sufficient for interaction with microtubules.		H -> Q (in dbSNP:rs897804). {ECO:0000269|PubMed:15489334}.		early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CATCCTCCAGGTGGCGCTGCA	0.706											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1086	0.216853	0.0325	0.2939	5008	,	,		12044	0.2321		0.4394	False		,,,				2504	0.1667				p.H488Q		Atlas-SNP	.											HOOK2,NS,carcinoma,0,1	HOOK2	73	1	0			c.C1464G						PASS	.	G	GLN/HIS,GLN/HIS	323,3541		20,283,1629	10	13	12		1464,1464	3.7	1	19	dbSNP_87	12	3246,5000		672,1902,1549	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	24,24	692,2185,3178	CC,CG,GG		39.3645,8.3592,29.4715	benign,benign	488/718,488/720	12876964	3569,8541	1932	4123	6055	SO:0001583	missense	29911	exon15			CTCCAGGTGGCGC	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1464C>G	19.37:g.12876964G>C	ENSP00000380785:p.His488Gln	Somatic	41	0	0	683	WXS	Illumina HiSeq	Phase_I	14	12	0.857143	NM_001100176	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	599	0.2742673992673993	19	0.03861788617886179	120	0.3314917127071823	121	0.21153846153846154	339	0.4472295514511873	G	13.50	2.255926	0.39896	0.083592	0.393645	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.15718	2.4;2.4	4.77	3.69	0.42338	.	0.449885	0.22723	N	0.056436	T	0.00012	0.0000	N	0.04959	-0.14	0.32618	P	0.5237350000000001	B;B	0.15473	0.01;0.013	B;B	0.14023	0.006;0.01	T	0.47935	-0.9078	9	0.20046	T	0.44	-30.7248	6.3	0.21107	0.1135:0.3067:0.5798:0.0	rs897804;rs17850914;rs897804	488;488	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	488	ENSP00000380785:H488Q;ENSP00000264827:H488Q	ENSP00000264827:H488Q	H	-	3	2	HOOK2	12737964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.363000	0.34159	2.174000	0.68829	0.467000	0.42956	CAC	G|0.729;C|0.271	0.271	strong		0.706	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		C	12876964	G	C	12876964	3	2	23	1	0	0	0	0	1	0	0	0	7283	1252	44	4	731	4	HOOK2	19	12876964	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	301812	12876964	46252019	4222	20678										
FARSA	2193	hgsc.bcm.edu	37	chr19	13035006	13035006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaatgaccgacacgttctcGggaagccccatgggcagcag	13	13	1	1	rs1045913	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13035006G>A	ENST00000314606.4	-	12	1365	c.1347C>T	c.(1345-1347)ccC>ccT	p.P449P	FARSA_ENST00000588025.1_Silent_p.P489P|FARSA_ENST00000423140.2_Silent_p.P418P	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	449					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	ACACGTTCTCGGGAAGCCCCA	0.597													G|||	401	0.0800719	0.0053	0.1542	5008	,	,		17317	0.0962		0.0944	False		,,,				2504	0.0971				p.P449P		Atlas-SNP	.											.	FARSA	46	.	0			c.C1347T						PASS	.	G		116,4290	86.8+/-125.4	2,112,2089	80	83	82		1347	-10.2	0.3	19	dbSNP_86	82	960,7640	210.3+/-251.2	55,850,3395	no	coding-synonymous	FARSA	NM_004461.2		57,962,5484	AA,AG,GG		11.1628,2.6328,8.2731		449/509	13035006	1076,11930	2203	4300	6503	SO:0001819	synonymous_variant	2193	exon12			GTTCTCGGGAAGC	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1347C>T	19.37:g.13035006G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	32	23	0.71875	NM_004461	B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	CCDS12287.1																																																																																			G|0.920;A|0.080	0.080	strong		0.597	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13035006	G	A	13035006	2	1	23	1	0	0	0	0	0	0	0	1	5679	1103	39	1		1	FARSA	19	13035006	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	158042	13035006	46093977	4223	20679										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13395957	13395959	+	In_Frame_Del	DEL	TCC	TCC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtcttccccacggtcgtctTcctcctcctccttcttctct							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13395957_13395959delTCC	ENST00000360228.5	-	21	3614_3616	c.3615_3617delGGA	c.(3613-3618)gaggaa>gaa	p.1205_1206EE>E	CACNA1A_ENST00000573710.2_In_Frame_Del_p.1206_1207EE>E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1206	Poly-Glu.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGGtcgtcttcctcctcctcct	0.552																																					p.1207_1207del		Pindel,Atlas-Indel	.											.	CACNA1A	715	.	0			c.3619_3621del						PASS	.		,,,,	3,3657		1,1,1828					,,,,	-3.5	0.6			103	12,7868		0,12,3928	no	coding,coding,coding,coding,coding	CACNA1A	NM_023035.2,NM_001174080.1,NM_001127222.1,NM_001127221.1,NM_000068.3	,,,,	1,13,5756	A1A1,A1R,RR		0.1523,0.082,0.13	,,,,	,,,,		15,11525				SO:0001651	inframe_deletion	773	exon21			.	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3615_3617delGGA	19.37:g.13395966_13395968delTCC	ENSP00000353362:p.Glu1206del	Somatic	170	.	.		WXS	Illumina HiSeq	Phase_I	172	45	0.262	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																			.	.	none		0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13395959	TCC	-	13395957	7	5	23	1	0	1	0	1	0	0	0	0	2538	1783	62	0	4113	0	CACNA1A	19	13395957	In_Frame_Del	DEL	TCC	TCGA-GR-7353-01A-11D-2210-10	360951	13395957	45733026	4224	20680										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13409407	13409407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccctccgcgcgtccccctCgtacgtggctggagcgccat	11	19	0	0	rs16024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13409407C>T	ENST00000360228.5	-	19	3039	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1015K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1015					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGTCCCCCTCGTACGTGGCT	0.687													C|||	6	0.00119808	0.0008	0.0029	5008	,	,		9081	0.0		0.003	False		,,,				2504	0.0				p.E1015K		Atlas-SNP	.											.	CACNA1A	715	.	0			c.G3043A						PASS	.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3196		0,0,1598	22	22	22		3052,3043,3040,3043,3052	3.5	0	19	dbSNP_54	22	35,6103		0,35,3034	yes	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	56,56,56,56,56	0,35,4632	TT,TC,CC		0.5702,0.0,0.375	benign,benign,benign,benign,benign	1018/2267,1015/2262,1014/2507,1015/2264,1018/2513	13409407	35,9299	1598	3069	4667	SO:0001583	missense	773	exon19			CCCCCTCGTACGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3040G>A	19.37:g.13409407C>T	ENSP00000353362:p.Glu1014Lys	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	122	58	0.47541	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	8.418	0.845757	0.16963	0.0	0.005702	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95853	-3.83	3.54	3.54	0.40534	.	2.783830	0.01492	N	0.017126	D	0.89213	0.6651	L	0.36672	1.1	0.34650	D	0.721503	B;B;B	0.31599	0.0;0.33;0.222	B;B;B	0.17098	0.0;0.017;0.015	T	0.74842	-0.3527	10	0.06236	T	0.91	.	13.8911	0.63740	0.0:1.0:0.0:0.0	rs16024;rs16024	1015;1018;1014	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1014;1018;1015;1015	ENSP00000353362:E1014K	ENSP00000317661:E1015K	E	-	1	0	CACNA1A	13270407	0.456000	0.25744	0.039000	0.18376	0.035000	0.12851	1.820000	0.39032	1.541000	0.49316	0.462000	0.41574	GAG	C|0.997;T|0.003	0.003	strong		0.687	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13409407	C	T	13409407	3	4	23	1	0	0	0	0	1	0	0	0	2538	893	31	1	4698	1	CACNA1A	19	13409407	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13450	13409407	45719576	4225	20681										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13414594	13414594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggatacagttcccaaagagCgtcagtacaatgaaatagat	9	7	1	3	rs16016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13414594C>T	ENST00000360228.5	-	16	2090	c.2091G>A	c.(2089-2091)acG>acA	p.T697T	CACNA1A_ENST00000573710.2_Silent_p.T698T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	698					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAAAGAGCGTCAGTACAA	0.567													c|||	927	0.185104	0.0673	0.2205	5008	,	,		13056	0.2887		0.1203	False		,,,				2504	0.2791				p.T698T		Atlas-SNP	.											.	CACNA1A	715	.	0			c.G2094A						PASS	.	T	,,,,	328,3650		13,302,1674	149	151	150		2094,2094,2091,2094,2094	-9.2	0.1	19	dbSNP_54	150	1076,7250		71,934,3158	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	84,1236,4832	TT,TC,CC		12.9234,8.2453,11.4109	,,,,	698/2267,698/2262,697/2507,698/2264,698/2513	13414594	1404,10900	1989	4163	6152	SO:0001819	synonymous_variant	773	exon16			AAAGAGCGTCAGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2091G>A	19.37:g.13414594C>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	85	45	0.529412	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			C|0.834;T|0.166	0.166	strong		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13414594	C	T	13414594	2	4	23	1	0	0	0	0	0	0	0	1	2538	755	27	1		1	CACNA1A	19	13414594	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5187	13414594	45714389	4226	20682										
CACNA1A	773	hgsc.bcm.edu	37	chr19	13445208	13445208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacctgcttttgagatccaCtccatgtacccattgagctc	6	14	1	2	rs2248069	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13445208C>T	ENST00000360228.5	-	8	1181	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	CACNA1A_ENST00000573710.2_Silent_p.E394E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	394	Binding to the beta subunit. {ECO:0000250}.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGAGATCCACTCCATGTACC	0.547													C|||	3211	0.641174	0.4758	0.7767	5008	,	,		15172	0.6339		0.6789	False		,,,				2504	0.7372				p.E394E		Atlas-SNP	.											.	CACNA1A	715	.	0			c.G1182A						PASS	.	C	,,,,	2108,1734		593,922,406	103	102	102		1182,1182,1182,1182,1182	0.6	1	19	dbSNP_100	102	5682,2578		1972,1738,420	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2565,2660,826	TT,TC,CC		31.2107,45.1327,35.6305	,,,,	394/2267,394/2262,394/2507,394/2264,394/2513	13445208	7790,4312	1921	4130	6051	SO:0001819	synonymous_variant	773	exon8			GATCCACTCCATG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1182G>A	19.37:g.13445208C>T		Somatic	139	1	0.00719424		WXS	Illumina HiSeq	Phase_I	124	123	0.991935	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			C|0.375;T|0.625	0.625	strong		0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13445208	C	T	13445208	2	4	23	1	0	0	0	0	0	0	0	1	2538	564	20	2		2	CACNA1A	19	13445208	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30614	13445208	45683775	4227	20683										
C19orf53	28974	hgsc.bcm.edu	37	chr19	13885309	13885309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accatggcgcaggggcagcgCaagtttcaggcgcacaaacc	13	13	1	0	rs1128749	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13885309C>T	ENST00000588234.1	+	1	328	c.18C>T	c.(16-18)cgC>cgT	p.R6R	C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	6										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGGGGCAGCGCAAGTTTCAGG	0.642													C|||	1884	0.376198	0.4032	0.317	5008	,	,		16423	0.4256		0.2505	False		,,,				2504	0.4601				p.R6R		Atlas-SNP	.											C19orf53,NS,carcinoma,0,1	C19orf53	14	1	0			c.C18T						PASS	.	C		1733,2661		341,1051,805	16	19	18		18	0.3	1	19	dbSNP_86	18	2204,6384		303,1598,2393	no	coding-synonymous	C19orf53	NM_014047.2		644,2649,3198	TT,TC,CC		25.6637,39.4401,30.3266		6/100	13885309	3937,9045	2197	4294	6491	SO:0001819	synonymous_variant	28974	exon1			GCAGCGCAAGTTT	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.18C>T	19.37:g.13885309C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	108	54	0.5	NM_014047	B2R4J9	Silent	SNP	ENST00000588234.1	37	CCDS12298.1																																																																																			A|0.000;C|0.661;G|0.000;T|0.338	0.338	strong		0.642	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		T	13885309	C	T	13885309	2	4	23	1	0	0	0	0	0	0	0	1	1935	697	25	2		2	C19orf53	19	13885309	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	440101	13885309	45243674	4228	20684										
C19orf53	28974	hgsc.bcm.edu	37	chr19	13885484	13885484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtcgtgttatcgctcccaAgaaggcgcgcgtcgtgcagc	14	12	0	1	rs10104	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13885484A>G	ENST00000588234.1	+	2	426	c.116A>G	c.(115-117)aAg>aGg	p.K39R	C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	39			K -> R (in dbSNP:rs10104).							breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			ATCGCTCCCAAGAAGGCGCGC	0.677													A|||	1891	0.377596	0.4032	0.3184	5008	,	,		16120	0.4266		0.2555	False		,,,				2504	0.4601				p.K39R		Atlas-SNP	.											.	C19orf53	14	.	0			c.A116G						PASS	.	A	ARG/LYS	1770,2636	506.7+/-366.5	349,1072,782	72	83	79		116	5.2	1	19	dbSNP_52	79	2227,6371	364.9+/-333.7	305,1617,2377	yes	missense	C19orf53	NM_014047.2	26	654,2689,3159	GG,GA,AA		25.9014,40.1725,30.7367	probably-damaging	39/100	13885484	3997,9007	2203	4299	6502	SO:0001583	missense	28974	exon2			CTCCCAAGAAGGC	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.116A>G	19.37:g.13885484A>G	ENSP00000465432:p.Lys39Arg	Somatic	334	0	0		WXS	Illumina HiSeq	Phase_I	287	147	0.512195	NM_014047	B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	CCDS12298.1	738	0.33791208791208793	210	0.4268292682926829	103	0.2845303867403315	233	0.40734265734265734	192	0.2532981530343008	A	34	5.402346	0.96030	0.401725	0.259014	ENSG00000104979	ENST00000221576	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	D	0.69078	0.997	D	0.80764	0.994	T	0.27706	-1.0066	7	0.87932	D	0	.	13.346	0.60573	1.0:0.0:0.0:0.0	rs10104;rs1128778;rs1559148;rs11557473;rs17112907;rs17295622;rs59089349;rs10104	39	Q9UNZ5	L10K_HUMAN	R	39	.	ENSP00000221576:K39R	K	+	2	0	C19orf53	13746484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.204000	0.65180	2.102000	0.63906	0.524000	0.50904	AAG	A|0.669;G|0.331	0.331	strong		0.677	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		G	13885484	A	G	13885484	3	3	23	1	0	0	0	0	1	0	0	0	1935	72	3	3	122	3	C19orf53	19	13885484	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	175	13885484	45243499	4229	20685										
ZSWIM4	65249	hgsc.bcm.edu	37	chr19	13934296	13934296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgtgaactggcttccaccAtgttgacggccgccaagggt	13	11	0	2	rs76549352	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13934296A>G	ENST00000254323.2	+	10	2035	c.1846A>G	c.(1846-1848)Atg>Gtg	p.M616V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.M450V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	616							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCTTCCACCATGTTGACGGC	0.592													A|||	35	0.00698882	0.0008	0.0101	5008	,	,		20199	0.0		0.0199	False		,,,				2504	0.0072				p.M616V		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.A1846G						PASS	.	A	VAL/MET	26,4380		0,26,2177	41	32	35		1846	3.4	1	19	dbSNP_131	35	228,8372		3,222,4075	yes	missense	ZSWIM4	NM_023072.2	21	3,248,6252	GG,GA,AA		2.6512,0.5901,1.9529	possibly-damaging	616/990	13934296	254,12752	2203	4300	6503	SO:0001583	missense	65249	exon10			TCCACCATGTTGA	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1846A>G	19.37:g.13934296A>G	ENSP00000254323:p.Met616Val	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	112	59	0.526786	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	22	0.010073260073260074	0	0.0	5	0.013812154696132596	0	0.0	17	0.022427440633245383	A	16.68	3.191716	0.58017	0.005901	0.026512	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.50001	0.77;0.76	4.48	3.44	0.39384	.	0.000000	0.64402	D	0.000007	T	0.36413	0.0966	M	0.70595	2.14	0.37386	D	0.912244	P;D	0.63046	0.75;0.992	B;P	0.61275	0.396;0.886	T	0.59456	-0.7451	10	0.72032	D	0.01	-29.3762	9.2182	0.37360	0.8166:0.1834:0.0:0.0	.	450;616	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	V	616;450	ENSP00000254323:M616V;ENSP00000405278:M450V	ENSP00000254323:M616V	M	+	1	0	ZSWIM4	13795296	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	6.801000	0.75170	0.717000	0.32145	0.482000	0.46254	ATG	A|0.987;G|0.013	0.013	strong		0.592	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		G	13934296	A	G	13934296	3	3	23	1	0	0	0	0	1	0	0	0	18240	217	8	2	1884	2	ZSWIM4	19	13934296	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	48812	13934296	45194687	4230	20686										
ZSWIM4	65249	hgsc.bcm.edu	37	chr19	13941022	13941022	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggcccgcaagccctgatgAatatcatgcagaactggtat	10	11	1	3	rs56177954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:13941022A>C	ENST00000254323.2	+	13	2317	c.2128A>C	c.(2128-2130)Aat>Cat	p.N710H	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.N544H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	710							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGCCCTGATGAATATCATGCA	0.582													A|||	34	0.00678914	0.0008	0.0101	5008	,	,		19352	0.0		0.0199	False		,,,				2504	0.0061				p.N710H		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.A2128C						PASS	.	A	HIS/ASN	25,4381	33.5+/-64.1	0,25,2178	68	68	68		2128	3.1	1	19	dbSNP_129	68	232,8368	95.6+/-157.4	3,226,4071	yes	missense	ZSWIM4	NM_023072.2	68	3,251,6249	CC,CA,AA		2.6977,0.5674,1.976	benign	710/990	13941022	257,12749	2203	4300	6503	SO:0001583	missense	65249	exon13			CTGATGAATATCA	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2128A>C	19.37:g.13941022A>C	ENSP00000254323:p.Asn710His	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	59	32	0.542373	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	22	0.010073260073260074	0	0.0	5	0.013812154696132596	0	0.0	17	0.022427440633245383	A	16.27	3.077036	0.55753	0.005674	0.026977	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.43294	0.95;0.95	4.16	3.1	0.35709	.	0.280852	0.28618	N	0.014703	T	0.12475	0.0303	L	0.36672	1.1	0.26636	N	0.972389	B;B	0.20988	0.007;0.05	B;B	0.21917	0.003;0.037	T	0.13045	-1.0524	10	0.54805	T	0.06	-40.4042	8.7378	0.34539	0.8078:0.1922:0.0:0.0	rs56177954	544;710	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	H	710;544	ENSP00000254323:N710H;ENSP00000405278:N544H	ENSP00000254323:N710H	N	+	1	0	ZSWIM4	13802022	1.000000	0.71417	0.994000	0.49952	0.820000	0.46376	7.110000	0.77069	0.429000	0.26202	0.402000	0.26972	AAT	A|0.984;C|0.016	0.016	strong		0.582	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		C	13941022	A	C	13941022	3	2	23	1	0	0	0	0	1	0	0	0	18240	246	9	5	2178	5	ZSWIM4	19	13941022	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6726	13941022	45187961	4231	20687										
LPHN1	22859	hgsc.bcm.edu	37	chr19	14288369	14288369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacatgatcttgaaggcgtcCggcaggtagcactgcacatt	12	10	1	2	rs146417164	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14288369C>T	ENST00000340736.6	-	3	555	c.258G>A	c.(256-258)ccG>ccA	p.P86P	LPHN1_ENST00000361434.3_Silent_p.P86P	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	86	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAAGGCGTCCGGCAGGTAGC	0.572													C|||	26	0.00519169	0.0	0.0086	5008	,	,		18398	0.002		0.0179	False		,,,				2504	0.0				p.P86P		Atlas-SNP	.											.	LPHN1	107	.	0			c.G258A						PASS	.	C	,	8,4398	14.3+/-33.2	0,8,2195	137	114	122		258,258	-9.7	0	19	dbSNP_134	122	104,8496	57.2+/-118.5	1,102,4197	no	coding-synonymous,coding-synonymous	LPHN1	NM_001008701.2,NM_014921.4	,	1,110,6392	TT,TC,CC		1.2093,0.1816,0.8611	,	86/1475,86/1470	14288369	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	22859	exon3			GGCGTCCGGCAGG	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.258G>A	19.37:g.14288369C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	119	62	0.521008	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																			C|0.992;T|0.008	0.008	strong		0.572	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14288369	C	T	14288369	2	4	23	1	0	0	0	0	0	0	0	1	8915	639	23	1		1	LPHN1	19	14288369	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	347347	14288369	44840614	4232	20688										
PKN1	5585	hgsc.bcm.edu	37	chr19	14581063	14581063	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggacacgtcgtacacgcgAgctgtggactggtggggact	16	10	0	0	rs1042728	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14581063A>G	ENST00000242783.6	+	19	2547	c.2382A>G	c.(2380-2382)cgA>cgG	p.R794R	PKN1_ENST00000342216.4_Silent_p.R800R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGTACACGCGAGCTGTGGACT	0.642													G|||	999	0.199481	0.4796	0.1542	5008	,	,		19432	0.1081		0.0825	False		,,,				2504	0.0675				p.R800R	NSCLC(185;2539 2965 10733 52867)	Atlas-SNP	.											.	PKN1	99	.	0			c.A2400G						PASS	.	G	,	1876,2530	625.9+/-394.6	399,1078,726	102	115	111		2382,2400	-5.1	0	19	dbSNP_86	111	596,8004	789.7+/-407.6	26,544,3730	no	coding-synonymous,coding-synonymous	PKN1	NM_002741.3,NM_213560.1	,	425,1622,4456	GG,GA,AA		6.9302,42.5783,19.0066	,	794/943,800/949	14581063	2472,10534	2203	4300	6503	SO:0001819	synonymous_variant	5585	exon19			CACGCGAGCTGTG	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2382A>G	19.37:g.14581063A>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	110	43	0.390909	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																			A|0.837;G|0.163	0.163	strong		0.642	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		G	14581063	A	G	14581063	2	3	23	1	0	0	0	0	0	0	0	1	11979	291	11	3		3	PKN1	19	14581063	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	292694	14581063	44547920	4233	20689										
GIPC1	10755	hgsc.bcm.edu	37	chr19	14590279	14590279	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgcagggtccctcggccaGtgcccagttgtgggccagag	16	14	0	1	rs45458894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14590279G>C	ENST00000393033.4	-	7	982	c.713C>G	c.(712-714)aCt>aGt	p.T238S	GIPC1_ENST00000393028.1_Missense_Mutation_p.T141S|GIPC1_ENST00000393029.3_Missense_Mutation_p.T141S|GIPC1_ENST00000586027.1_Missense_Mutation_p.T238S|GIPC1_ENST00000591349.1_Missense_Mutation_p.T141S|GIPC1_ENST00000345425.2_Missense_Mutation_p.T238S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	238					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCCTCGGCCAGTGCCCAGTTG	0.672													G|||	370	0.0738818	0.1067	0.1138	5008	,	,		12295	0.005		0.0805	False		,,,				2504	0.0654				p.T238S	Pancreas(33;78 923 2910 41023 52850)	Atlas-SNP	.											.	GIPC1	21	.	0			c.C713G						PASS	.	G	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	429,3921		21,387,1767	10	11	11		713,422,713,422,713,422	4.3	1	19	dbSNP_127	11	542,7996		12,518,3739	no	missense,missense,missense,missense,missense,missense	GIPC1	NM_005716.2,NM_202467.1,NM_202468.1,NM_202469.1,NM_202470.1,NM_202494.1	58,58,58,58,58,58	33,905,5506	CC,CG,GG		6.3481,9.8621,7.5341	benign,benign,benign,benign,benign,benign	238/334,141/237,238/334,141/237,238/334,141/237	14590279	971,11917	2175	4269	6444	SO:0001583	missense	10755	exon6			CGGCCAGTGCCCA	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.713C>G	19.37:g.14590279G>C	ENSP00000376753:p.Thr238Ser	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	62	33	0.532258	NM_202468	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	CCDS12310.1	172	0.07875457875457875	54	0.10975609756097561	52	0.143646408839779	0	0.0	66	0.0870712401055409	G	8.377	0.836601	0.16891	0.098621	0.063481	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;D;D	0.84944	-1.37;-1.37;-1.92;-1.92	4.3	4.3	0.51218	.	0.058205	0.64402	D	0.000002	T	0.01156	0.0038	N	0.13352	0.335	0.09310	P	0.99999010649	B	0.11235	0.004	B	0.12156	0.007	T	0.40308	-0.9570	9	0.02654	T	1	-8.2812	14.2592	0.66073	0.0:0.0:1.0:0.0	rs45458894;rs61731621	238	O14908	GIPC1_HUMAN	S	238;238;141;141;238	ENSP00000376753:T238S;ENSP00000340698:T238S;ENSP00000376749:T141S;ENSP00000376748:T141S	ENSP00000340698:T238S	T	-	2	0	GIPC1	14451279	0.998000	0.40836	1.000000	0.80357	0.871000	0.50021	2.615000	0.46368	1.961000	0.56991	0.561000	0.74099	ACT	G|0.904;C|0.096	0.096	strong		0.672	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			C	14590279	G	C	14590279	3	2	23	1	0	0	0	0	1	0	0	0	6392	1029	36	4	300	4	GIPC1	19	14590279	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9216	14590279	44538704	4234	20690										
DNAJB1	3337	hgsc.bcm.edu	37	chr19	14629138	14629138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgccgcgggccaggcccaaCgtctggtagtagtctttacc	13	14	2	0	rs141518218	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14629138C>T	ENST00000254322.2	-	1	94	c.24G>A	c.(22-24)acG>acA	p.T8T	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	8	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCAGGCCCAACGTCTGGTAGT	0.711													C|||	8	0.00159744	0.0	0.0014	5008	,	,		9495	0.0		0.004	False		,,,				2504	0.0031				p.T8T		Atlas-SNP	.											.	DNAJB1	38	.	0			c.G24A						PASS	.	C		8,4394		0,8,2193	27	26	27		24	1.7	1	19	dbSNP_134	27	67,8527		0,67,4230	no	coding-synonymous	DNAJB1	NM_006145.1		0,75,6423	TT,TC,CC		0.7796,0.1817,0.5771		8/341	14629138	75,12921	2201	4297	6498	SO:0001819	synonymous_variant	3337	exon1			GCCCAACGTCTGG	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.24G>A	19.37:g.14629138C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	36	20	0.555556	NM_006145	B4DX52	Silent	SNP	ENST00000254322.2	37	CCDS12312.1																																																																																			C|0.995;T|0.005	0.005	strong		0.711	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		T	14629138	C	T	14629138	2	4	23	1	0	0	0	0	0	0	0	1	4615	523	19	1		1	DNAJB1	19	14629138	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38859	14629138	44499845	4235	20691										
ZNF333	84449	hgsc.bcm.edu	37	chr19	14829749	14829749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaaactgtatgagtgcgCgacttgcggtcaggtcttga	15	7	2	3	rs3764626	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14829749C>T	ENST00000292530.6	+	12	1701	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	ZNF333_ENST00000536363.1_Missense_Mutation_p.A428V|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	537			A -> V (in dbSNP:rs3764626).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TATGAGTGCGCGACTTGCGGT	0.532													G|||	2410	0.48123	0.438	0.4914	5008	,	,		22164	0.619		0.3022	False		,,,				2504	0.5746				p.A537V	NSCLC(60;75 1281 16985 25154 29885)	Atlas-SNP	.											.	ZNF333	76	.	0			c.C1610T						PASS	.	G	VAL/ALA	1769,2637		362,1045,796	103	81	89		1610	0.3	0	19	dbSNP_107	89	2553,6047		394,1765,2141	yes	missense	ZNF333	NM_032433.2	64	756,2810,2937	TT,TC,CC		29.686,40.1498,33.2308	possibly-damaging	537/666	14829749	4322,8684	2203	4300	6503	SO:0001583	missense	84449	exon12			AGTGCGCGACTTG		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1610C>T	19.37:g.14829749C>T	ENSP00000292530:p.Ala537Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	129	55	0.426357	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	944	0.43223443223443225	212	0.43089430894308944	149	0.4116022099447514	338	0.5909090909090909	245	0.3232189973614776	G	16.10	3.028610	0.54790	0.401498	0.29686	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07688	3.17;3.17	2.54	0.305	0.15801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.20401	0.57	0.80722	P	0.0	B	0.32507	0.373	B	0.26094	0.066	T	0.16988	-1.0384	8	0.36615	T	0.2	.	12.1716	0.54161	0.0:0.5749:0.4251:0.0	rs3764626;rs59099264;rs3764626	537	Q96JL9	ZN333_HUMAN	V	428;537	ENSP00000439749:A428V;ENSP00000292530:A537V	ENSP00000292530:A537V	A	+	2	0	ZNF333	14690749	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-0.446000	0.06837	-0.096000	0.12329	-0.120000	0.15030	GCG	C|0.613;T|0.387	0.387	strong		0.532	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		T	14829749	C	T	14829749	3	4	23	1	0	0	0	0	1	0	0	0	17847	768	27	1	1652	1	ZNF333	19	14829749	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	200611	14829749	44299234	4236	20692										
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938616	14938616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactcatggtccaggatgcTagaaccagcagtccacagag	11	12	1	2	rs2190686	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14938616T>C	ENST00000322301.3	-	2	525	c.438A>G	c.(436-438)ctA>ctG	p.L146L	OR7A5_ENST00000594432.1_Silent_p.L146L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCAGGATGCTAGAACCAGCA	0.507													.|||	2800	0.559105	0.6218	0.428	5008	,	,		20351	0.6815		0.3917	False		,,,				2504	0.6135				p.L146L		Atlas-SNP	.											.	OR7A5	43	.	0			c.A438G						PASS	.	C		2699,1707	514.1+/-368.5	825,1049,329	74	68	70		438	0.8	0	19	dbSNP_96	70	3404,5196	639.0+/-399.4	692,2020,1588	no	coding-synonymous	OR7A5	NM_017506.1		1517,3069,1917	CC,CT,TT		39.5814,38.7426,46.9245		146/320	14938616	6103,6903	2203	4300	6503	SO:0001819	synonymous_variant	26659	exon1			GGATGCTAGAACC	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.438A>G	19.37:g.14938616T>C		Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	148	78	0.527027	NM_017506	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			T|0.505;C|0.495	0.495	strong		0.507	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		C	14938616	T	C	14938616	2	2	23	1	0	0	0	0	0	0	0	1	11216	1509	53	3		3	OR7A5	19	14938616	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	108867	14938616	44190367	4237	20693										
OR7A17	26333	hgsc.bcm.edu	37	chr19	14991643	14991643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttaagttcacagaaaaagtgGgggatttccaagtctgtgca	11	6	2	1	rs10401818	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14991643G>A	ENST00000327462.2	-	1	621	c.525C>T	c.(523-525)ccC>ccT	p.P175P		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGAAAAAGTGGGGGATTTCCA	0.483													.|||	1390	0.277556	0.438	0.2349	5008	,	,		21572	0.2867		0.2356	False		,,,				2504	0.1247				p.P175P		Atlas-SNP	.											.	OR7A17	37	.	0			c.C525T						PASS	.	G		1723,2683	516.7+/-369.2	350,1023,830	91	86	88		525	-2.2	0.6	19	dbSNP_119	88	1945,6655	341.3+/-324.0	215,1515,2570	no	coding-synonymous	OR7A17	NM_030901.1		565,2538,3400	AA,AG,GG		22.6163,39.1058,28.2024		175/310	14991643	3668,9338	2203	4300	6503	SO:0001819	synonymous_variant	26333	exon1			AAAGTGGGGGATT	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.525C>T	19.37:g.14991643G>A		Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	190	189	0.994737	NM_030901	Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	CCDS12319.1																																																																																			G|0.709;A|0.291	0.291	strong		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991643	G	A	14991643	2	1	23	1	0	0	0	0	0	0	0	1	11215	1219	43	2		2	OR7A17	19	14991643	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	53027	14991643	44137340	4238	20694			18	87		5	4	403	N	G_C_A	3.803706e-05
OR7A17	26333	hgsc.bcm.edu	37	chr19	14991963	14991963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagatgaaacagatgtctgCaaaggacaggttggagagga	16	4	1	4	rs10404119	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14991963C>A	ENST00000327462.2	-	1	301	c.205G>T	c.(205-207)Gca>Tca	p.A69S		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	69			A -> S (in dbSNP:rs10404119).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CAGATGTCTGCAAAGGACAGG	0.512													.|||	1661	0.331669	0.118	0.3098	5008	,	,		16982	0.6052		0.3161	False		,,,				2504	0.3701				p.A69S		Atlas-SNP	.											.	OR7A17	37	.	0			c.G205T						PASS	.	C	SER/ALA	763,3643	310.0+/-291.3	57,649,1497	99	86	90		205	0.4	0	19	dbSNP_119	90	2565,6035	418.0+/-352.6	383,1799,2118	yes	missense	OR7A17	NM_030901.1	99	440,2448,3615	AA,AC,CC		29.8256,17.3173,25.5882	benign	69/310	14991963	3328,9678	2203	4300	6503	SO:0001583	missense	26333	exon1			TGTCTGCAAAGGA	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.205G>T	19.37:g.14991963C>A	ENSP00000328144:p.Ala69Ser	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	125	54	0.432	NM_030901	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	744	0.34065934065934067	53	0.10772357723577236	100	0.27624309392265195	341	0.5961538461538461	250	0.32981530343007914	c	7.921	0.738580	0.15642	0.173173	0.298256	ENSG00000185385	ENST00000327462	T	0.03004	4.08	2.74	0.396	0.16309	GPCR, rhodopsin-like superfamily (1);	1.087770	0.07430	N	0.895552	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B	0.19073	0.033	B	0.26969	0.075	T	0.28586	-1.0039	9	0.51188	T	0.08	.	3.6298	0.08127	0.4309:0.438:0.0:0.1311	rs10404119;rs52793167;rs10404119	69	O14581	OR7AH_HUMAN	S	69	ENSP00000328144:A69S	ENSP00000328144:A69S	A	-	1	0	OR7A17	14852963	0.000000	0.05858	0.010000	0.14722	0.615000	0.37417	-3.279000	0.00529	0.211000	0.20683	0.395000	0.25975	GCA	C|0.711;A|0.289	0.289	strong		0.512	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991963	C	A	14991963	3	1	23	1	0	0	0	0	1	0	0	0	11215	710	25	4	726	4	OR7A17	19	14991963	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	320	14991963	44137020	4239	20695			18	87		5	4	403	N	G_C_A	3.803706e-05
OR7A17	26333	hgsc.bcm.edu	37	chr19	14992031	14992031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtctgagattgtggccaggAtgatgagcagattcccgagc	14	8	1	4	rs10405129	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14992031A>G	ENST00000327462.2	-	1	233	c.137T>C	c.(136-138)aTc>aCc	p.I46T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	46			I -> T (in dbSNP:rs10405129).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGTGGCCAGGATGATGAGCAG	0.512													.|||	1668	0.333067	0.118	0.3098	5008	,	,		14451	0.6121		0.3161	False		,,,				2504	0.3701				p.I46T		Atlas-SNP	.											.	OR7A17	37	.	0			c.T137C						PASS	.	A	THR/ILE	761,3645	303.8+/-288.1	58,645,1500	63	54	57		137	2.7	1	19	dbSNP_119	57	2550,6040	408.0+/-349.4	379,1792,2124	yes	missense	OR7A17	NM_030901.1	89	437,2437,3624	GG,GA,AA		29.6857,17.2719,25.4771	possibly-damaging	46/310	14992031	3311,9685	2203	4295	6498	SO:0001583	missense	26333	exon1			GCCAGGATGATGA	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.137T>C	19.37:g.14992031A>G	ENSP00000328144:p.Ile46Thr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	72	27	0.375	NM_030901	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	697	0.3191391941391941	44	0.08943089430894309	92	0.2541436464088398	328	0.5734265734265734	233	0.3073878627968338	a	15.41	2.826814	0.50739	0.172719	0.296857	ENSG00000185385	ENST00000327462	T	0.00640	6.03	2.66	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.196463	0.24599	U	0.037150	T	0.00012	0.0000	M	0.92367	3.3	0.43947	P	0.003390000000000004	P	0.38551	0.636	P	0.47102	0.537	T	0.12837	-1.0532	9	0.87932	D	0	.	5.9636	0.19313	0.7299:0.2701:0.0:0.0	rs10405129;rs35310775;rs10405129	46	O14581	OR7AH_HUMAN	T	46	ENSP00000328144:I46T	ENSP00000328144:I46T	I	-	2	0	OR7A17	14853031	0.159000	0.22864	1.000000	0.80357	0.881000	0.50899	4.413000	0.59795	1.499000	0.48617	0.324000	0.21423	ATC	A|0.747;G|0.253	0.253	strong		0.512	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		G	14992031	A	G	14992031	3	3	23	1	0	0	0	0	1	0	0	0	11215	333	12	2	794	2	OR7A17	19	14992031	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	68	14992031	44136952	4240	20696			18	87		5	4	403	N	G_C_A	3.803706e-05
OR7A17	26333	hgsc.bcm.edu	37	chr19	14992042	14992042	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggccaggatgatgagcagAttcccgagcacagtgaccag					rs10405136	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14992042A>G	ENST00000327462.2	-	1	222	c.126T>C	c.(124-126)aaT>aaC	p.N42N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGATGAGCAGATTCCCGAGCA	0.498													.|||	2815	0.562101	0.3737	0.5591	5008	,	,		14102	0.6984		0.5149	False		,,,				2504	0.727				p.N42N		Atlas-SNP	.											.	OR7A17	37	.	0			c.T126C						PASS	.	A		1800,2606	632.7+/-395.9	367,1066,770	60	51	54		126	0.5	0.9	19	dbSNP_119	54	4390,4208	553.8+/-386.4	1163,2064,1072	no	coding-synonymous	OR7A17	NM_030901.1		1530,3130,1842	GG,GA,AA		48.9416,40.8534,47.6007		42/310	14992042	6190,6814	2203	4299	6502	SO:0001819	synonymous_variant	26333	exon1			GAGCAGATTCCCG	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.126T>C	19.37:g.14992042A>G		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	76	31	0.407895	NM_030901	Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	CCDS12319.1																																																																																			.	.	weak		0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		G	14992042	A	G	14992042	2	3	23	1	0	0	0	0	0	0	0	1	11215	330	12	2		2	OR7A17	19	14992042	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	11	14992042	44136941	4241	20697	411	2	18	87		5	4	403	N	G_C_A	3.803706e-05
OR7A17	26333	hgsc.bcm.edu	37	chr19	14992045	14992045	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccaggatgatgagcagattCccgagcacagtgaccaggta					rs10404335	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:14992045C>T	ENST00000327462.2	-	1	219	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGAGCAGATTCCCGAGCACAG	0.498													.|||	1703	0.340056	0.118	0.3271	5008	,	,		13957	0.6121		0.338	False		,,,				2504	0.3712				p.G41G		Atlas-SNP	.											.	OR7A17	37	.	0			c.G123A						PASS	.	C		758,3648		64,630,1509	58	50	53		123	-1.5	0.4	19	dbSNP_119	53	2702,5896		460,1782,2057	no	coding-synonymous	OR7A17	NM_030901.1		524,2412,3566	TT,TC,CC		31.4259,17.2038,26.6072		41/310	14992045	3460,9544	2203	4299	6502	SO:0001819	synonymous_variant	26333	exon1			CAGATTCCCGAGC	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.123G>A	19.37:g.14992045C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_030901	Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	CCDS12319.1																																																																																			C|0.713;T|0.287	0.287	strong		0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		T	14992045	C	T	14992045	2	4	23	1	0	0	0	0	0	0	0	1	11215	842	30	2		2	OR7A17	19	14992045	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3	14992045	44136938	4242	20698	411	2	18	87		5	4	403	N	G_C_A	3.803706e-05
SLC1A6	6511	hgsc.bcm.edu	37	chr19	15083555	15083555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgtcagcagaatgaaggcGtttcggcgcaggaagcgcag	15	10	1	2	rs115001292	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:15083555G>A	ENST00000221742.3	-	1	175	c.168C>T	c.(166-168)aaC>aaT	p.N56N	SLC1A6_ENST00000544886.2_Silent_p.N56N|SLC1A6_ENST00000600144.1_Silent_p.N56N|SLC1A6_ENST00000598504.1_Silent_p.N56N|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R61C	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	56					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GAATGAAGGCGTTTCGGCGCA	0.637													G|||	44	0.00878594	0.0	0.0245	5008	,	,		19459	0.0		0.0239	False		,,,				2504	0.0031				p.N56N		Atlas-SNP	.											.	SLC1A6	111	.	0			c.C168T						PASS	.	G		7,4393		0,7,2193	29	29	29		168	-4.8	0.9	19	dbSNP_132	29	53,8547		1,51,4248	no	coding-synonymous	SLC1A6	NM_005071.1		1,58,6441	AA,AG,GG		0.6163,0.1591,0.4615		56/565	15083555	60,12940	2200	4300	6500	SO:0001819	synonymous_variant	6511	exon4			GAAGGCGTTTCGG		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.168C>T	19.37:g.15083555G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	110	57	0.518182	NM_001272087	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1	26	0.011904761904761904	0	0.0	6	0.016574585635359115	0	0.0	20	0.026385224274406333	G	10.63	1.404119	0.25291	0.001591	0.006163	ENSG00000105143	ENST00000430939	T	0.75260	-0.92	4.46	-4.79	0.03200	.	.	.	.	.	T	0.37865	0.1019	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32771	-0.9894	8	0.87932	D	0	-17.863	10.8289	0.46649	0.7382:0.0:0.2618:0.0	.	61	E7EV13	.	C	61	ENSP00000409386:R61C	ENSP00000409386:R61C	R	-	1	0	SLC1A6	14944555	0.036000	0.19791	0.931000	0.37212	0.642000	0.38348	-0.826000	0.04429	-0.758000	0.04690	0.313000	0.20887	CGC	G|0.993;A|0.007	0.007	strong		0.637	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15083555	G	A	15083555	2	1	23	1	0	0	0	0	0	0	0	1	14436	1136	40	1		1	SLC1A6	19	15083555	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	91510	15083555	44045428	4243	20699										
PGLYRP2	114770	hgsc.bcm.edu	37	chr19	15587185	15587185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccttctcgtacgtcatgtCgggccacctccttggtcagg	10	15	3	0	rs733731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:15587185C>T	ENST00000340880.4	-	2	776	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.R99Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	99			R -> Q (in dbSNP:rs733731). {ECO:0000269|PubMed:12975309}.		defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.R99fs*10(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TACGTCATGTCGGGCCACCTC	0.622													C|||	1759	0.351238	0.3457	0.3401	5008	,	,		19780	0.3631		0.4056	False		,,,				2504	0.2986				p.R99Q		Atlas-SNP	.											PGLYRP2_ENST00000292609,NS,carcinoma,0,4	PGLYRP2	116	4	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	c.G296A						PASS	.	C	GLN/ARG	1516,2890	482.6+/-359.5	259,998,946	154	107	123		296	-5.8	0	19	dbSNP_86	123	3316,5284	494.8+/-373.9	672,1972,1656	yes	missense	PGLYRP2	NM_052890.3	43	931,2970,2602	TT,TC,CC		38.5581,34.4076,37.1521	benign	99/577	15587185	4832,8174	2203	4300	6503	SO:0001583	missense	114770	exon2			TCATGTCGGGCCA	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.296G>A	19.37:g.15587185C>T	ENSP00000345968:p.Arg99Gln	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	254	112	0.440945	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	788	0.3608058608058608	162	0.32926829268292684	113	0.31215469613259667	209	0.36538461538461536	304	0.40105540897097625	C	3.013	-0.203499	0.06180	0.344076	0.385581	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04706	3.6;3.57	5.27	-5.85	0.02311	.	0.940554	0.08756	N	0.898418	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.18741	0.03;0.002	B;B	0.10450	0.005;0.002	T	0.47058	-0.9146	9	0.09843	T	0.71	-8.6097	14.0632	0.64812	0.0:0.6294:0.0:0.3706	rs733731;rs3813134;rs17721949;rs52810675;rs58606529;rs733731	99;99	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	99	ENSP00000345968:R99Q;ENSP00000292609:R99Q	ENSP00000292609:R99Q	R	-	2	0	PGLYRP2	15448185	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	-0.461000	0.06712	-1.182000	0.02727	-1.264000	0.01445	CGA	C|0.637;T|0.363	0.363	strong		0.622	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15587185	C	T	15587185	3	4	23	1	0	0	0	0	1	0	0	0	11794	884	31	1	1450	1	PGLYRP2	19	15587185	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	503630	15587185	43541798	4244	20700										
HSH2D	84941	hgsc.bcm.edu	37	chr19	16259623	16259623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggactggtttgtgcacacCcagatgggccagctggccca	13	13	0	1	rs8103852	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16259623C>T	ENST00000253680.6	+	4	594	c.63C>T	c.(61-63)acC>acT	p.T21T	HSH2D_ENST00000593154.2_Silent_p.T21T|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Silent_p.T21T			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	21					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						TTGTGCACACCCAGATGGGCC	0.637													C|||	617	0.123203	0.3464	0.0692	5008	,	,		14551	0.0169		0.0746	False		,,,				2504	0.0194				p.T21T		Atlas-SNP	.											.	HSH2D	16	.	0			c.C63T						PASS	.	C		1139,2703		171,797,953	50	58	56		63	-3.3	1	19	dbSNP_116	56	559,7669		19,521,3574	no	coding-synonymous	HSH2D	NM_032855.2		190,1318,4527	TT,TC,CC		6.7939,29.646,14.0679		21/353	16259623	1698,10372	1921	4114	6035	SO:0001819	synonymous_variant	84941	exon4			GCACACCCAGATG	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.63C>T	19.37:g.16259623C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	105	49	0.466667	NM_032855	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																				C|0.891;T|0.109	0.109	strong		0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16259623	C	T	16259623	2	4	23	1	0	0	0	0	0	0	0	1	7400	610	22	2		2	HSH2D	19	16259623	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	672438	16259623	42869360	4245	20701										
HSH2D	84941	hgsc.bcm.edu	37	chr19	16265241	16265241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacgtggattacgaggatctCttcctctactccaacgcagt	8	12	2	0	rs36088948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16265241C>T	ENST00000253680.6	+	7	945	c.414C>T	c.(412-414)ctC>ctT	p.L138L	HSH2D_ENST00000593154.2_Silent_p.L138L|HSH2D_ENST00000397372.4_Silent_p.L49L|HSH2D_ENST00000588246.1_Silent_p.L138L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	138					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGAGGATCTCTTCCTCTACT	0.617													C|||	324	0.0646965	0.149	0.0476	5008	,	,		18037	0.001		0.0746	False		,,,				2504	0.0184				p.L138L		Atlas-SNP	.											.	HSH2D	16	.	0			c.C414T						PASS	.	C		497,3377		25,447,1465	26	29	28		414	1.7	1	19	dbSNP_126	28	494,7612		15,464,3574	no	coding-synonymous	HSH2D	NM_032855.2		40,911,5039	TT,TC,CC		6.0943,12.8291,8.2721		138/353	16265241	991,10989	1937	4053	5990	SO:0001819	synonymous_variant	84941	exon7			GGATCTCTTCCTC	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.414C>T	19.37:g.16265241C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	54	20	0.37037	NM_032855	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																				C|0.927;T|0.073	0.073	strong		0.617	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16265241	C	T	16265241	2	4	23	1	0	0	0	0	0	0	0	1	7400	900	32	2		2	HSH2D	19	16265241	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5618	16265241	42863742	4246	20702										
FAM32A	26017	hgsc.bcm.edu	37	chr19	16301759	16301759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattcccaaagtcagctggaCgaagtagccgcctgccccca	9	16	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16301759C>T	ENST00000263384.7	+	4	357	c.332C>T	c.(331-333)aCg>aTg	p.T111M	FAM32A_ENST00000588367.1_Missense_Mutation_p.T93M|CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_Missense_Mutation_p.T91M	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	111					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T111M(1)		lung(1)	1						GTCAGCTGGACGAAGTAGCCG	0.557																																					p.T111M		Atlas-SNP	.											FAM32A,NS,carcinoma,0,1	FAM32A	6	1	1	Substitution - Missense(1)	lung(1)	c.C332T						PASS	.						73	61	65					19																	16301759		2203	4300	6503	SO:0001583	missense	26017	exon4			GCTGGACGAAGTA	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.332C>T	19.37:g.16301759C>T	ENSP00000263384:p.Thr111Met	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	131	53	0.40458	NM_014077	Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999969	0.54147	.	.	ENSG00000105058	ENST00000263384	.	.	.	3.99	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.72576	2.205	0.80722	D	1	P	0.40144	0.704	B	0.28465	0.09	T	0.48747	-0.9008	9	0.66056	D	0.02	-16.2628	9.4497	0.38719	0.0:0.8985:0.0:0.1015	.	111	Q9Y421	FA32A_HUMAN	M	111	.	ENSP00000263384:T111M	T	+	2	0	FAM32A	16162759	1.000000	0.71417	0.841000	0.33234	0.578000	0.36192	5.807000	0.69157	0.793000	0.33875	0.462000	0.41574	ACG	.	.	none		0.557	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460346.1	NM_014077		T	16301759	C	T	16301759	3	4	23	1	0	0	0	0	1	0	0	0	5552	536	19	1	346	1	FAM32A	19	16301759	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	36518	16301759	42827224	4247	20703										
C19orf44	84167	hgsc.bcm.edu	37	chr19	16612011	16612011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagctgacagaatcctctcTgggggtgcactcgaactcgc	12	12	1	3	rs728117	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16612011T>C	ENST00000221671.3	+	2	564	c.408T>C	c.(406-408)tcT>tcC	p.S136S	C19orf44_ENST00000594035.1_Silent_p.S136S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	136										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCCTCTCTGGGGGTGCAC	0.512													C|||	1835	0.366414	0.643	0.3415	5008	,	,		17337	0.1736		0.3221	False		,,,				2504	0.2546				p.S136S		Atlas-SNP	.											.	C19orf44	47	.	0			c.T408C						PASS	.	C		2698,1708	509.6+/-367.3	843,1012,348	55	61	59		408	-2.9	0	19	dbSNP_86	59	2642,5958	684.2+/-403.9	411,1820,2069	no	coding-synonymous	C19orf44	NM_032207.2		1254,2832,2417	CC,CT,TT		30.7209,38.7653,41.058		136/658	16612011	5340,7666	2203	4300	6503	SO:0001819	synonymous_variant	84167	exon2			CCTCTCTGGGGGT	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.408T>C	19.37:g.16612011T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	65	35	0.538462	NM_032207	Q8N6Y7	Silent	SNP	ENST00000221671.3	37	CCDS12345.1																																																																																			T|0.663;C|0.337	0.337	strong		0.512	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		C	16612011	T	C	16612011	2	2	23	1	0	0	0	0	0	0	0	1	1927	1567	55	3		3	C19orf44	19	16612011	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	310252	16612011	42516972	4248	20704										
NWD1	284434	hgsc.bcm.edu	37	chr19	16860882	16860882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggggcactgggggttttgGacaccttgcagcgggtgctc	18	10	0	0	rs61746179	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16860882G>A	ENST00000552788.1	+	4	1429	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	NWD1_ENST00000339803.6_Missense_Mutation_p.D342N|NWD1_ENST00000379808.3_Missense_Mutation_p.D477N|NWD1_ENST00000549814.1_Missense_Mutation_p.D477N|NWD1_ENST00000524140.2_Missense_Mutation_p.D477N|NWD1_ENST00000523826.1_Missense_Mutation_p.D271N			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	477	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGGTTTTGGACACCTTGCA	0.647													G|||	34	0.00678914	0.0008	0.0058	5008	,	,		17184	0.0		0.0268	False		,,,				2504	0.002				p.D477N		Atlas-SNP	.											.	NWD1	303	.	0			c.G1429A						PASS	.	G	ASN/ASP	20,4386	27.2+/-55.0	0,20,2183	61	65	63		1429	-0.6	0	19	dbSNP_129	63	190,8410	81.8+/-144.4	0,190,4110	yes	missense	NWD1	NM_001007525.3	23	0,210,6293	AA,AG,GG		2.2093,0.4539,1.6146	benign	477/1433	16860882	210,12796	2203	4300	6503	SO:0001583	missense	284434	exon6			GTTTTGGACACCT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1429G>A	19.37:g.16860882G>A	ENSP00000447224:p.Asp477Asn	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	91	42	0.461538	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	g	5.738	0.320672	0.10845	0.004539	0.022093	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.78	-0.559	0.11792	.	1.130240	0.06413	N	0.720955	T	0.46483	0.1395	L	0.50333	1.59	0.09310	N	1	P;P;P	0.43231	0.801;0.589;0.642	B;B;B	0.38106	0.197;0.173;0.265	T	0.51919	-0.8644	10	0.18276	T	0.48	-12.1674	3.9409	0.09326	0.3107:0.357:0.3323:0.0	rs61746179	477;477;342	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	N	342;477;477;477;271;477;342	ENSP00000428579:D477N;ENSP00000447548:D477N;ENSP00000369136:D477N;ENSP00000428955:D271N;ENSP00000447224:D477N;ENSP00000340159:D342N	ENSP00000340159:D342N	D	+	1	0	NWD1	16721882	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.050000	0.11904	0.421000	0.25980	-0.366000	0.07423	GAC	G|0.985;A|0.015	0.015	strong		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16860882	G	A	16860882	3	1	23	1	0	0	0	0	1	0	0	0	10781	1174	41	2	1030	2	NWD1	19	16860882	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	248871	16860882	42268101	4249	20705										
NWD1	284434	hgsc.bcm.edu	37	chr19	16872940	16872940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggggaaaccactgaacttGgaccgaaaggtgaggtacct	14	8	0	2	rs773852	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:16872940G>A	ENST00000552788.1	+	6	2124	c.2124G>A	c.(2122-2124)ttG>ttA	p.L708L	NWD1_ENST00000339803.6_Silent_p.L573L|NWD1_ENST00000379808.3_Silent_p.L708L|NWD1_ENST00000549814.1_Silent_p.L708L|NWD1_ENST00000524140.2_Silent_p.L708L|NWD1_ENST00000523826.1_Silent_p.L502L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	708							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACTGAACTTGGACCGAAAGG	0.577													G|||	2002	0.39976	0.6172	0.2709	5008	,	,		17692	0.1895		0.3917	False		,,,				2504	0.4223				p.L708L		Atlas-SNP	.											.	NWD1	303	.	0			c.G2124A						PASS	.	G		2500,1906	627.0+/-394.8	705,1090,408	71	54	60		2124	2.2	1	19	dbSNP_86	60	3430,5170	501.9+/-375.6	681,2068,1551	no	coding-synonymous	NWD1	NM_001007525.3		1386,3158,1959	AA,AG,GG		39.8837,43.2592,45.5943		708/1433	16872940	5930,7076	2203	4300	6503	SO:0001819	synonymous_variant	284434	exon8			GAACTTGGACCGA	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2124G>A	19.37:g.16872940G>A		Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	80	79	0.9875	NM_001007525	C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																				G|0.570;A|0.430	0.430	strong		0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16872940	G	A	16872940	2	1	23	1	0	0	0	0	0	0	0	1	10781	1339	47	2		2	NWD1	19	16872940	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12058	16872940	42256043	4250	20706										
F2RL3	9002	hgsc.bcm.edu	37	chr19	17000632	17000632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgctgatgaacctcgcgGctgctgacctcctgctggcc	12	15	0	3	rs773902	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17000632G>A	ENST00000248076.3	+	2	688	c.358G>A	c.(358-360)Gct>Act	p.A120T	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	120			A -> T (in dbSNP:rs773902). {ECO:0000269|PubMed:9618465, ECO:0000269|PubMed:9716134, ECO:0000269|PubMed:9722561}.		blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAACCTCGCGGCTGCTGACCT	0.741													G|||	1713	0.342053	0.615	0.2911	5008	,	,		14611	0.2371		0.2058	False		,,,				2504	0.2577				p.A120T		Atlas-SNP	.											.	F2RL3	20	.	0			c.G358A						PASS	.	G	THR/ALA	2354,1990		672,1010,490	11	10	11		358	0.9	0	19	dbSNP_86	11	1691,6781		190,1311,2735	yes	missense	F2RL3	NM_003950.2	58	862,2321,3225	AA,AG,GG		19.9599,45.8103,31.5621	benign	120/386	17000632	4045,8771	2172	4236	6408	SO:0001583	missense	9002	exon2			CTCGCGGCTGCTG	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.358G>A	19.37:g.17000632G>A	ENSP00000248076:p.Ala120Thr	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	20	8	0.4	NM_003950	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	647	0.29624542124542125	263	0.5345528455284553	108	0.2983425414364641	130	0.22727272727272727	146	0.19261213720316622	G	8.642	0.896247	0.17686	0.541897	0.199599	ENSG00000127533	ENST00000248076	T	0.37752	1.18	4.3	0.917	0.19380	GPCR, rhodopsin-like superfamily (1);	0.571113	0.15977	U	0.235519	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.33135	0.399	B	0.40782	0.34	T	0.45920	-0.9228	9	0.36615	T	0.2	.	5.4574	0.16598	0.244:0.0:0.6162:0.1398	rs773902;rs936378;rs58632682;rs773902	120	Q96RI0	PAR4_HUMAN	T	120	ENSP00000248076:A120T	ENSP00000248076:A120T	A	+	1	0	F2RL3	16861632	0.002000	0.14202	0.001000	0.08648	0.142000	0.21351	1.267000	0.33050	0.003000	0.14656	-0.336000	0.08194	GCT	G|0.677;A|0.323	0.323	strong		0.741	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			A	17000632	G	A	17000632	3	1	23	1	0	0	0	0	1	0	0	0	5346	1203	42	2	364	2	F2RL3	19	17000632	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	127692	17000632	42128351	4251	20707										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17017878	17017878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagggtccatggccaggggcGcagcagactccaggaagtgc	16	11	0	1	rs56408444	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17017878G>A	ENST00000443236.1	-	30	4083	c.4052C>T	c.(4051-4053)gCg>gTg	p.A1351V	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1304						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCCAGGGGCGCAGCAGACTC	0.657													G|||	952	0.190096	0.025	0.3401	5008	,	,		12421	0.2431		0.2217	False		,,,				2504	0.2198				p.A1351V		Atlas-SNP	.											CPAMD8,NS,carcinoma,0,1	CPAMD8	192	1	0			c.C4052T						PASS	.	G	VAL/ALA	210,4100		8,194,1953	33	42	39		4052	-4.2	0	19	dbSNP_129	39	1662,6842		171,1320,2761	yes	missense	CPAMD8	NM_015692.2	64	179,1514,4714	AA,AG,GG		19.5437,4.8724,14.609	benign	1351/1933	17017878	1872,10942	2155	4252	6407	SO:0001583	missense	27151	exon30			AGGGGCGCAGCAG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4052C>T	19.37:g.17017878G>A	ENSP00000402505:p.Ala1351Val	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	195	89	0.45641	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	436|436	0.19963369963369965|0.19963369963369965	15|15	0.03048780487804878|0.03048780487804878	121|121	0.3342541436464088|0.3342541436464088	134|134	0.23426573426573427|0.23426573426573427	166|166	0.21899736147757257|0.21899736147757257	G|G	0.607|0.607	-0.826442|-0.826442	0.02734|0.02734	0.048724|0.048724	0.195437|0.195437	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.07|3.07	-4.18|-4.18	0.03846|0.03846	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	1.891200|.	0.04120|.	N|.	0.316189|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B|.	0.22346|.	0.068|.	B|.	0.10450|.	0.005|.	T|T	0.44817|0.44817	-0.9303|-0.9303	8|4	0.02654|.	T|.	1|.	.|.	6.1572|6.1572	0.20344|0.20344	0.702:0.1636:0.1344:0.0|0.702:0.1636:0.1344:0.0	rs56408444;rs62128040|rs56408444;rs62128040	1304|.	Q8IZJ3|.	CPMD8_HUMAN|.	V|C	1351|1362	.|.	ENSP00000291440:A1351V|.	A|R	-|-	2|1	0|0	CPAMD8|CPAMD8	16878878|16878878	0.055000|0.055000	0.20627|0.20627	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.347000|1.347000	0.33975|0.33975	-0.651000|-0.651000	0.05415|0.05415	0.536000|0.536000	0.68110|0.68110	GCG|CGC	G|0.803;A|0.197	0.197	strong		0.657	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17017878	G	A	17017878	3	1	23	1	0	0	0	0	1	0	0	0	3795	1087	38	1	1798	1	CPAMD8	19	17017878	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17246	17017878	42111105	4252	20708										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17088299	17088299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgggggtcacggccagaTgaagagaggtcacacacacg	15	10	2	3	rs1824152	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17088299T>C	ENST00000443236.1	-	15	1809	c.1778A>G	c.(1777-1779)cAt>cGt	p.H593R	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	546						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACGGCCAGATGAAGAGAGGT	0.592													t|||	2839	0.566893	0.9213	0.3963	5008	,	,		17909	0.5625		0.3777	False		,,,				2504	0.408				p.H593R		Atlas-SNP	.											.	CPAMD8	192	.	0			c.A1778G						PASS	.	C	ARG/HIS	3115,813		1259,597,108	39	45	43		1778	-5.2	0	19	dbSNP_92	43	2825,5453		475,1875,1789	no	missense	CPAMD8	NM_015692.2	29	1734,2472,1897	CC,CT,TT		34.1266,20.6976,48.6646	benign	593/1933	17088299	5940,6266	1964	4139	6103	SO:0001583	missense	27151	exon15			GCCAGATGAAGAG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1778A>G	19.37:g.17088299T>C	ENSP00000402505:p.His593Arg	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	49	18	0.367347	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	1126|1126	0.5155677655677655|0.5155677655677655	415|415	0.8434959349593496|0.8434959349593496	136|136	0.3756906077348066|0.3756906077348066	306|306	0.534965034965035|0.534965034965035	269|269	0.3548812664907652|0.3548812664907652	t|t	0.001|0.001	-2.964973|-2.964973	0.00049|0.00049	0.793024|0.793024	0.341266|0.341266	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.62|2.62	-5.24|-5.24	0.02789|0.02789	Alpha-2-macroglobulin, N-terminal 2 (1);|.	1.028330|.	0.07794|.	N|.	0.955448|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.10664|0.10664	0.02|0.02	0.21604|0.21604	P|P	0.999620117|0.999620117	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10847|0.10847	-1.0612|-1.0612	8|4	0.15066|.	T|.	0.55|.	.|.	8.2718|8.2718	0.31849|0.31849	0.1001:0.314:0.0:0.5859|0.1001:0.314:0.0:0.5859	rs1824152;rs3745334;rs60607898;rs1824152|rs1824152;rs3745334;rs60607898;rs1824152	546|.	Q8IZJ3|.	CPMD8_HUMAN|.	R|V	593|604	.|.	ENSP00000291440:H593R|.	H|I	-|-	2|1	0|0	CPAMD8|CPAMD8	16949299|16949299	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.081000|0.081000	0.17604|0.17604	-0.493000|-0.493000	0.06459|0.06459	-3.135000|-3.135000	0.00235|0.00235	-4.516000|-4.516000	0.00005|0.00005	CAT|ATC	.	.	weak		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17088299	T	C	17088299	3	2	23	1	0	0	0	0	1	0	0	0	3795	1464	51	2	4132	2	CPAMD8	19	17088299	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	70421	17088299	42040684	4253	20709										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17088319	17088319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagagaggtcacacacacGtcgacctcagcttctggggc	12	12	3	2	rs3745335	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17088319G>T	ENST00000443236.1	-	15	1789	c.1758C>A	c.(1756-1758)gaC>gaA	p.D586E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	539						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACACACACGTCGACCTCAG	0.597													g|||	1748	0.349042	0.503	0.3012	5008	,	,		17953	0.2837		0.2863	False		,,,				2504	0.3067				p.D586E		Atlas-SNP	.											.	CPAMD8	192	.	0			c.C1758A						PASS	.	G	GLU/ASP	1694,2282		352,990,646	31	38	36		1758	-4.9	0	19	dbSNP_107	36	2249,6059		294,1661,2199	yes	missense	CPAMD8	NM_015692.2	45	646,2651,2845	TT,TG,GG		27.0703,42.6056,32.0987	benign	586/1933	17088319	3943,8341	1988	4154	6142	SO:0001583	missense	27151	exon15			ACACACGTCGACC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1758C>A	19.37:g.17088319G>T	ENSP00000402505:p.Asp586Glu	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	20	0.416667	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	749|749	0.34294871794871795|0.34294871794871795	244|244	0.4959349593495935|0.4959349593495935	114|114	0.3149171270718232|0.3149171270718232	167|167	0.291958041958042|0.291958041958042	224|224	0.2955145118733509|0.2955145118733509	g|g	1.841|1.841	-0.467320|-0.467320	0.04476|0.04476	0.426056|0.426056	0.270703|0.270703	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|T	.|0.63744	.|-0.06	2.45|2.45	-4.91|-4.91	0.03085|0.03085	Alpha-2-macroglobulin, N-terminal 2 (1);|.	1.225170|.	0.06333|.	U|.	0.706515|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.16307|0.16307	0.4|0.4	0.27253|0.27253	P|P	0.9588331|0.9588331	B|.	0.09022|.	0.002|.	B|.	0.18871|.	0.023|.	T|T	0.38650|0.38650	-0.9651|-0.9651	8|5	0.05620|.	T|.	0.96|.	.|.	1.0551|1.0551	0.01588|0.01588	0.1807:0.1571:0.437:0.2253|0.1807:0.1571:0.437:0.2253	rs3745335;rs57288934;rs3745335|rs3745335;rs57288934;rs3745335	539|.	Q8IZJ3|.	CPMD8_HUMAN|.	E|K	586|597	.|ENSP00000402505:T597K	ENSP00000291440:D586E|.	D|T	-|-	3|2	2|0	CPAMD8|CPAMD8	16949319|16949319	0.133000|0.133000	0.22466|0.22466	0.028000|0.028000	0.17463|0.17463	0.151000|0.151000	0.21798|0.21798	-0.780000|-0.780000	0.04654|0.04654	-2.316000|-2.316000	0.00645|0.00645	-1.631000|-1.631000	0.00782|0.00782	GAC|ACG	.	.	weak		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17088319	G	T	17088319	3	4	23	1	0	0	0	0	1	0	0	0	3795	1136	40	4	4152	4	CPAMD8	19	17088319	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20	17088319	42040664	4254	20710										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17091368	17091368	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggggccgcccgcttgctTcgctgctgggtggtgtgggc	19	12	0	0	rs8103646	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17091368T>G	ENST00000443236.1	-	14	1696	c.1665A>C	c.(1663-1665)cgA>cgC	p.R555R	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	508						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCGCTTGCTTCGCTGCTGGG	0.587													T|||	2373	0.473842	0.6475	0.3559	5008	,	,		17983	0.5506		0.3509	False		,,,				2504	0.3701				p.R555R		Atlas-SNP	.											CPAMD8,NS,carcinoma,-1,1	CPAMD8	192	1	0			c.A1665C						PASS	.	T		2244,1706		634,976,365	58	65	63		1665	0.6	1	19	dbSNP_116	63	2636,5682		401,1834,1924	no	coding-synonymous	CPAMD8	NM_015692.2		1035,2810,2289	GG,GT,TT		31.6903,43.1899,39.7783		555/1933	17091368	4880,7388	1975	4159	6134	SO:0001819	synonymous_variant	27151	exon14			CTTGCTTCGCTGC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1665A>C	19.37:g.17091368T>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	72	32	0.444444	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	1035	0.4739010989010989	317	0.6443089430894309	133	0.3674033149171271	312	0.5454545454545454	273	0.36015831134564646	T	7.048	0.563842	0.13498	0.568101	0.316903	ENSG00000160111	ENST00000443236	.	.	.	2.9	0.633	0.17712	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999769414	.	.	.	.	.	.	T	0.43572	-0.9383	3	.	.	.	.	7.1737	0.25732	0.0:0.4272:0.0:0.5728	rs8103646	.	.	.	A	566	.	.	E	-	2	0	CPAMD8	16952368	0.968000	0.33430	0.972000	0.41901	0.565000	0.35776	-0.114000	0.10757	0.105000	0.17753	0.383000	0.25322	GAA	T|0.601;G|0.399	0.399	strong		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17091368	T	G	17091368	2	3	23	1	0	0	0	0	0	0	0	1	3795	1770	62	5		5	CPAMD8	19	17091368	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3049	17091368	42037615	4255	20711										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17100550	17100550	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggcaggtactgagcccccAcaggcttcccgttcagtgcc					rs61744414	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17100550A>T	ENST00000443236.1	-	13	1470	c.1439T>A	c.(1438-1440)gTg>gAg	p.V480E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	433						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGAGCCCCCACAGGCTTCCC	0.602													A|||	51	0.0101837	0.0008	0.0086	5008	,	,		16513	0.0		0.0179	False		,,,				2504	0.0266				p.V480E		Atlas-SNP	.											.	CPAMD8	192	.	0			c.T1439A						PASS	.	A	GLU/VAL	13,3901		0,13,1944	32	42	39		1439	-1.4	0.4	19	dbSNP_129	39	162,8114		1,160,3977	no	missense	CPAMD8	NM_015692.2	121	1,173,5921	TT,TA,AA		1.9575,0.3321,1.4356	possibly-damaging	480/1933	17100550	175,12015	1957	4138	6095	SO:0001583	missense	27151	exon13			GCCCCCACAGGCT	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1439T>A	19.37:g.17100550A>T	ENSP00000402505:p.Val480Glu	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	118	46	0.38983	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	18|18	0.008241758241758242|0.008241758241758242	0|0	0.0|0.0	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	13|13	0.017150395778364115|0.017150395778364115	A|A	4.384|4.384	0.070842|0.070842	0.08436|0.08436	0.003321|0.003321	0.019575|0.019575	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.87|2.87	-1.4|-1.4	0.08968|0.08968	.|.	0.467573|.	0.18364|.	U|.	0.143477|.	T|T	0.14184|0.14184	0.0343|0.0343	N|N	0.19112|0.19112	0.55|0.55	0.29616|0.29616	N|N	0.846543|0.846543	P|.	0.38922|.	0.651|.	B|.	0.32805|.	0.153|.	T|T	0.30794|0.30794	-0.9966|-0.9966	9|5	0.39692|.	T|.	0.17|.	.|.	8.9973|8.9973	0.36061|0.36061	0.2239:0.0:0.7761:0.0|0.2239:0.0:0.7761:0.0	rs61744414|rs61744414	433|.	Q8IZJ3|.	CPMD8_HUMAN|.	E|R	480|491	.|.	ENSP00000291440:V480E|.	V|W	-|-	2|1	0|0	CPAMD8|CPAMD8	16961550|16961550	0.936000|0.936000	0.31750|0.31750	0.360000|0.360000	0.25837|0.25837	0.007000|0.007000	0.05969|0.05969	3.004000|3.004000	0.49513|0.49513	-0.173000|-0.173000	0.10761|0.10761	-0.451000|-0.451000	0.05528|0.05528	GTG|TGG	A|0.967;T|0.033	0.033	strong		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17100550	A	T	17100550	3	4	23	1	0	0	0	0	1	0	0	0	3795	159	6	5	4479	5	CPAMD8	19	17100550	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	9182	17100550	42028433	4256	20712	412	2								
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17100552	17100552	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcaggtactgagcccccacAggcttcccgttcagtgccat					rs1973093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17100552A>G	ENST00000443236.1	-	13	1468	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	432						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCCCCCACAGGCTTCCCGT	0.607													G|||	3047	0.608427	0.8563	0.5043	5008	,	,		16498	0.629		0.5239	False		,,,				2504	0.4131				p.P479P		Atlas-SNP	.											CPAMD8,colon,carcinoma,-2,1	CPAMD8	192	1	0			c.T1437C						PASS	.	G		3096,828		1230,636,96	31	41	38		1437	-5.7	0.1	19	dbSNP_92	38	3989,4297		968,2053,1122	no	coding-synonymous	CPAMD8	NM_015692.2		2198,2689,1218	GG,GA,AA		48.1414,21.1009,41.9738		479/1933	17100552	7085,5125	1962	4143	6105	SO:0001819	synonymous_variant	27151	exon13			CCCCACAGGCTTC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1437T>C	19.37:g.17100552A>G		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	118	48	0.40678	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	1332	0.6098901098901099	417	0.8475609756097561	192	0.5303867403314917	347	0.6066433566433567	376	0.49604221635883905	G	0.021	-1.430601	0.01117	0.788991	0.481414	ENSG00000160111	ENST00000443236	.	.	.	2.87	-5.73	0.02398	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.23168	P	0.99818347	.	.	.	.	.	.	T	0.19289	-1.0310	3	.	.	.	.	3.5665	0.07901	0.5238:0.1882:0.1938:0.0942	rs1973093;rs59637240	.	.	.	P	490	.	.	L	-	2	0	CPAMD8	16961552	0.023000	0.18921	0.050000	0.19076	0.001000	0.01503	-1.443000	0.02405	-1.715000	0.01389	-2.582000	0.00168	CTG	A|0.428;G|0.572	0.572	strong		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17100552	A	G	17100552	2	3	23	1	0	0	0	0	0	0	0	1	3795	175	7	3		3	CPAMD8	19	17100552	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2	17100552	42028431	4257	20713	412	2								
MYO9B	4650	hgsc.bcm.edu	37	chr19	17306074	17306074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggacaagagcaaaccatgtGgcagcccaagggttcaggaa	13	9	1	1	rs112900956	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17306074G>A	ENST00000594824.1	+	22	3985	c.3838G>A	c.(3838-3840)Ggc>Agc	p.G1280S	MYO9B_ENST00000595618.1_Missense_Mutation_p.G1280S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1280S			Q13459	MYO9B_HUMAN	myosin IXB	1280	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAAACCATGTGGCAGCCCAAG	0.701													G|||	19	0.00379393	0.0008	0.0029	5008	,	,		13079	0.0		0.0129	False		,,,				2504	0.0031				p.G1280S		Atlas-SNP	.											MYO9B_ENST00000319396,adrenal_gland,adrenal_cortical_adenoma,0,2	MYO9B	264	2	0			c.G3838A						PASS	.	G	SER/GLY,SER/GLY	11,3783		0,11,1886	20	27	25		3838,3838	-3.2	0	19	dbSNP_132	25	119,8027		0,119,3954	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	56,56	0,130,5840	AA,AG,GG		1.4608,0.2899,1.0888	benign,benign	1280/2023,1280/2158	17306074	130,11810	1897	4073	5970	SO:0001583	missense	4650	exon22			CCATGTGGCAGCC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3838G>A	19.37:g.17306074G>A	ENSP00000471367:p.Gly1280Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	65	40	0.615385	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		12	0.005494505494505495	0	0.0	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	G	5.753	0.323409	0.10900	0.002899	0.014608	ENSG00000099331	ENST00000397274	D	0.83673	-1.75	5.28	-3.16	0.05217	.	1.740110	0.03022	N	0.150866	T	0.65123	0.2661	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.56932	-0.7897	10	0.07030	T	0.85	.	10.5091	0.44851	0.645:0.0:0.355:0.0	.	1280;1280;1286	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1280	ENSP00000380444:G1280S	ENSP00000380444:G1280S	G	+	1	0	MYO9B	17167074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.479000	0.06567	-0.339000	0.08401	-0.367000	0.07326	GGC	G|0.994;A|0.006	0.006	strong		0.701	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17306074	G	A	17306074	3	1	23	1	0	0	0	0	1	0	0	0	10085	1348	47	2	3920	2	MYO9B	19	17306074	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	205522	17306074	41822909	4258	20714										
USHBP1	83878	hgsc.bcm.edu	37	chr19	17366313	17366313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctgctccagcaggagcaCgtgagctggacccagggctc	14	14	0	1	rs12459398	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17366313C>T	ENST00000252597.3	-	10	1746	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.V461M	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCAGGAGCACGTGAGCTGGA	0.701													C|||	1348	0.269169	0.3132	0.268	5008	,	,		14664	0.2788		0.2197	False		,,,				2504	0.2515				p.V525M		Atlas-SNP	.											.	USHBP1	85	.	0			c.G1573A						PASS	.	C	MET/VAL	1348,3058	434.3+/-343.9	197,954,1052	38	40	39		1573	-5.5	0	19	dbSNP_120	39	1750,6850	304.0+/-306.7	165,1420,2715	no	missense	USHBP1	NM_031941.3	21	362,2374,3767	TT,TC,CC		20.3488,30.5946,23.8198	benign	525/704	17366313	3098,9908	2203	4300	6503	SO:0001583	missense	83878	exon10			GGAGCACGTGAGC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1573G>A	19.37:g.17366313C>T	ENSP00000252597:p.Val525Met	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	57	31	0.54386	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	580	0.26556776556776557	178	0.3617886178861789	87	0.24033149171270718	154	0.2692307692307692	161	0.21240105540897097	C	6.299	0.423219	0.11928	0.305946	0.203488	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17854	2.25;2.25	4.92	-5.46	0.02608	.	2.347010	0.01907	N	0.039582	T	0.00012	0.0000	N	0.22421	0.69	0.58432	P	1.0000000000287557E-6	B;B	0.20671	0.019;0.047	B;B	0.09377	0.004;0.004	T	0.40515	-0.9559	9	0.46703	T	0.11	0.1015	8.5648	0.33534	0.0:0.1432:0.4915:0.3653	rs12459398	461;525	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	M	525;461	ENSP00000252597:V525M;ENSP00000407902:V461M	ENSP00000252597:V525M	V	-	1	0	USHBP1	17227313	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.146000	0.03191	-1.191000	0.02695	-0.882000	0.02950	GTG	C|0.765;T|0.235	0.235	strong		0.701	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		T	17366313	C	T	17366313	3	4	23	1	0	0	0	0	1	0	0	0	17034	536	19	1	554	1	USHBP1	19	17366313	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	60239	17366313	41762670	4259	20715										
USHBP1	83878	hgsc.bcm.edu	37	chr19	17367435	17367435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctctgagagaatcttcaTtagagaacggcgctcctgga	12	9	3	3	rs9676419	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17367435T>C	ENST00000252597.3	-	9	1488	c.1315A>G	c.(1315-1317)Atg>Gtg	p.M439V	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.M375V	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.M439V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGAATCTTCATTAGAGAACGG	0.612													C|||	1650	0.329473	0.4735	0.3098	5008	,	,		18737	0.2758		0.2336	False		,,,				2504	0.3027				p.M439V		Atlas-SNP	.											USHBP1,NS,carcinoma,0,2	USHBP1	85	2	1	Substitution - Missense(1)	prostate(1)	c.A1315G						PASS	.	C	VAL/MET	1957,2449	622.4+/-393.9	428,1101,674	73	73	73		1315	-0.3	0.9	19	dbSNP_119	73	1879,6721	729.3+/-406.7	189,1501,2610	yes	missense	USHBP1	NM_031941.3	21	617,2602,3284	CC,CT,TT		21.8488,44.4167,29.4941	benign	439/704	17367435	3836,9170	2203	4300	6503	SO:0001583	missense	83878	exon9			TCTTCATTAGAGA	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1315A>G	19.37:g.17367435T>C	ENSP00000252597:p.Met439Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	91	46	0.505495	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	689	0.31547619047619047	264	0.5365853658536586	103	0.2845303867403315	150	0.26223776223776224	172	0.22691292875989447	C	0.006	-2.114278	0.00349	0.444167	0.218488	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.10192	2.9;2.91	4.9	-0.346	0.12620	.	0.309917	0.24128	N	0.041292	T	0.00012	0.0000	N	0.00170	-1.935	0.09310	P	0.99999999854739	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36817	-0.9732	9	0.02654	T	1	-9.9883	6.3927	0.21595	0.0:0.4031:0.4212:0.1757	rs9676419;rs59052683;rs9676419	375;439	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	V	439;375	ENSP00000252597:M439V;ENSP00000407902:M375V	ENSP00000252597:M439V	M	-	1	0	USHBP1	17228435	0.875000	0.30112	0.886000	0.34754	0.011000	0.07611	-0.030000	0.12308	-0.123000	0.11745	-0.119000	0.15052	ATG	T|0.693;C|0.307	0.307	strong		0.612	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		C	17367435	T	C	17367435	3	2	23	1	0	0	0	0	1	0	0	0	17034	1493	52	2	816	2	USHBP1	19	17367435	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1122	17367435	41761548	4260	20716										
PGLS	25796	hgsc.bcm.edu	37	chr19	17631821	17631821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagccccacaccgggaaactGtgctggttcttggacgaggc	13	13	1	0	rs148164602	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17631821G>A	ENST00000252603.2	+	5	752	c.708G>A	c.(706-708)ctG>ctA	p.L236L	FAM129C_ENST00000332386.5_5'Flank|FAM129C_ENST00000300971.2_5'Flank|CTD-3131K8.3_ENST00000596192.1_RNA|FAM129C_ENST00000352727.3_5'Flank|FAM129C_ENST00000335393.4_5'Flank|FAM129C_ENST00000595684.1_5'Flank	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	236					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CCGGGAAACTGTGCTGGTTCT	0.647													G|||	76	0.0151757	0.0015	0.0202	5008	,	,		12940	0.0		0.0437	False		,,,				2504	0.0164				p.L236L		Atlas-SNP	.											.	PGLS	12	.	0			c.G708A						PASS	.	G		40,4358		0,40,2159	24	25	24		708	-10.6	0.1	19	dbSNP_134	24	382,8212		1,380,3916	no	coding-synonymous	PGLS	NM_012088.2		1,420,6075	AA,AG,GG		4.445,0.9095,3.2482		236/259	17631821	422,12570	2199	4297	6496	SO:0001819	synonymous_variant	25796	exon5			GAAACTGTGCTGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.708G>A	19.37:g.17631821G>A		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	146	64	0.438356	NM_012088		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			G|0.977;A|0.023	0.023	strong		0.647	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			A	17631821	G	A	17631821	2	1	23	1	0	0	0	0	0	0	0	1	11792	1364	48	2		2	PGLS	19	17631821	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	264386	17631821	41497162	4261	20717										
UNC13A	23025	hgsc.bcm.edu	37	chr19	17741047	17741047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctggttgagttgggagaaAacatccaccacggagcagga	13	9	1	2	rs10413821	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17741047A>G	ENST00000519716.2	-	30	3575	c.3576T>C	c.(3574-3576)gtT>gtC	p.V1192V	UNC13A_ENST00000428389.2_Silent_p.V1280V|UNC13A_ENST00000552293.1_Silent_p.V1192V|UNC13A_ENST00000252773.7_Silent_p.V1192V|UNC13A_ENST00000551649.1_Silent_p.V1192V|UNC13A_ENST00000550896.1_Silent_p.V1190V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1192	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGGGAGAAAACATCCACCA	0.547													G|||	2404	0.480032	0.8517	0.451	5008	,	,		19359	0.2966		0.3459	False		,,,				2504	0.3252				p.V1192V		Atlas-SNP	.											.	UNC13A	299	.	0			c.T3576C						PASS	.			3221,985		1248,725,130	42	45	44		3576	3.5	1	19	dbSNP_119	44	2927,5509		560,1807,1851	no	coding-synonymous	UNC13A	NM_001080421.2		1808,2532,1981	GG,GA,AA		34.6965,23.4189,48.6315		1192/1704	17741047	6148,6494	2103	4218	6321	SO:0001819	synonymous_variant	23025	exon29			GGAGAAAACATCC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3576T>C	19.37:g.17741047A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	136	67	0.492647	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																			A|0.571;G|0.429	0.429	strong		0.547	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		G	17741047	A	G	17741047	2	3	23	1	0	0	0	0	0	0	0	1	16981	1	1	2		2	UNC13A	19	17741047	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	109226	17741047	41387936	4262	20718										
INSL3	3640	hgsc.bcm.edu	37	chr19	17932138	17932138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccactcacggtcgcctccggTcgcaggcctcctggcttcgg	12	18	1	0	rs6523	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:17932138T>C	ENST00000317306.7	-	1	194	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	INSL3_ENST00000379695.5_Missense_Mutation_p.T60A	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	60			T -> A (common polymorphism; dbSNP:rs6523). {ECO:0000269|PubMed:10729310, ECO:0000269|PubMed:10759163, ECO:0000269|PubMed:11095425, ECO:0000269|PubMed:11182749, ECO:0000269|PubMed:11380919, ECO:0000269|PubMed:11383919, ECO:0000269|PubMed:11746019, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8020942, ECO:0000269|PubMed:8034302}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						TCGCCTCCGGTCGCAGGCCTC	0.701													C|||	3436	0.686102	0.8631	0.6124	5008	,	,		13644	0.6151		0.6481	False		,,,				2504	0.6115				p.T60A		Atlas-SNP	.											INSL3,NS,carcinoma,0,1	INSL3	8	1	0			c.A178G						PASS	.	C	ALA/THR	3090,632		1308,474,79	3	4	4		178	1.2	0	19	dbSNP_52	4	5029,2275		1741,1547,364	no	missense	INSL3	NM_005543.2	58	3049,2021,443	CC,CT,TT		31.1473,16.9801,26.365	benign	60/132	17932138	8119,2907	1861	3652	5513	SO:0001583	missense	3640	exon1			CTCCGGTCGCAGG		CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.178A>G	19.37:g.17932138T>C	ENSP00000321724:p.Thr60Ala	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	18	6	0.333333	NM_005543	B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Missense_Mutation	SNP	ENST00000317306.7	37	CCDS12365.1	1503	0.6881868131868132	409	0.8313008130081301	237	0.6546961325966851	364	0.6363636363636364	493	0.6503957783641161	C	0.049	-1.256708	0.01457	0.830199	0.688527	ENSG00000248099	ENST00000317306;ENST00000379695	D;D	0.87809	-2.3;-1.8	3.48	1.21	0.21127	Insulin-like (4);	.	.	.	.	T	0.00012	0.0000	N	0.00263	-1.745	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38457	-0.9660	8	0.02654	T	1	.	6.0014	0.19523	0.0:0.6253:0.0:0.3747	rs6523;rs2286662;rs11540330;rs17403483;rs2286662	60;60	G3XAG0;P51460	.;INSL3_HUMAN	A	60	ENSP00000321724:T60A;ENSP00000369017:T60A	ENSP00000321724:T60A	T	-	1	0	INSL3	17793138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.870000	0.04228	0.199000	0.20427	-0.338000	0.08134	ACC	T|0.225;G|0.175	.	strong		0.701	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932138	T	C	17932138	3	2	23	1	0	0	0	0	1	0	0	0	7767	1667	58	2	225	2	INSL3	19	17932138	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	191091	17932138	41196845	4263	20719										
ELL	8178	hgsc.bcm.edu	37	chr19	18562438	18562438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccaaggaggctgccagtgCtctgtggctggcacagcttc	13	13	1	0	rs2303694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:18562438C>T	ENST00000262809.4	-	7	961	c.890G>A	c.(889-891)aGc>aAc	p.S297N	ELL_ENST00000596124.3_Missense_Mutation_p.S164N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	297			S -> N (in dbSNP:rs2303694).		gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCTGCCAGTGCTCTGTGGCTG	0.692			T	MLL	AL								C|||	761	0.151957	0.2027	0.0922	5008	,	,		16101	0.0774		0.1292	False		,,,				2504	0.226				p.S297N		Atlas-SNP	.		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	ELL	52	.	0			c.G890A						PASS	.	C	ASN/SER	611,3341		51,509,1416	9	10	9		890	-0.8	0.1	19	dbSNP_100	9	830,6746		38,754,2996	no	missense	ELL	NM_006532.3	46	89,1263,4412	TT,TC,CC		10.9556,15.4605,12.5	benign	297/622	18562438	1441,10087	1976	3788	5764	SO:0001583	missense	8178	exon7			CCAGTGCTCTGTG	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.890G>A	19.37:g.18562438C>T	ENSP00000262809:p.Ser297Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	108	41	0.37963	NM_006532		Missense_Mutation	SNP	ENST00000262809.4	37	CCDS12380.1	295	0.13507326007326007	102	0.2073170731707317	45	0.12430939226519337	46	0.08041958041958042	102	0.1345646437994723	C	1.960	-0.439155	0.04636	0.154605	0.109556	ENSG00000105656	ENST00000262809	T	0.23754	1.89	4.26	-0.837	0.10766	.	0.530492	0.19087	N	0.123064	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33420	-0.9869	9	0.02654	T	1	-5.4715	3.1878	0.06607	0.1855:0.4069:0.0:0.4075	rs2303694	241;297	Q59HG4;P55199	.;ELL_HUMAN	N	297	ENSP00000262809:S297N	ENSP00000262809:S297N	S	-	2	0	ELL	18423438	0.047000	0.20315	0.053000	0.19242	0.173000	0.22820	0.209000	0.17435	0.351000	0.24027	0.549000	0.68633	AGC	C|0.865;T|0.135	0.135	strong		0.692	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		T	18562438	C	T	18562438	3	4	23	1	0	0	0	0	1	0	0	0	5062	797	28	2	999	2	ELL	19	18562438	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	630300	18562438	40566545	4264	20720										
CRLF1	9244	hgsc.bcm.edu	37	chr19	18705145	18705145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagcagtacgcgtgcttcTtgagccagcccaggaactgc	13	12	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:18705145T>C	ENST00000392386.3	-	7	1317	c.1124A>G	c.(1123-1125)aAg>aGg	p.K375R	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	375					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGCGTGCTTCTTGAGCCAGCC	0.701																																					p.K375R		Atlas-SNP	.											CRLF1,bladder,carcinoma,+1,1	CRLF1	32	1	0			c.A1124G						scavenged	.						31	29	29					19																	18705145		2203	4300	6503	SO:0001583	missense	9244	exon7			TGCTTCTTGAGCC	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1124A>G	19.37:g.18705145T>C	ENSP00000376188:p.Lys375Arg	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	106	4	0.0377358	NM_004750	Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777681	0.31502	.	.	ENSG00000006016	ENST00000392386	D	0.82081	-1.57	3.91	3.91	0.45181	.	0.231995	0.34484	N	0.003922	T	0.66819	0.2828	N	0.12569	0.235	0.31270	N	0.691855	B	0.12630	0.006	B	0.08055	0.003	T	0.63747	-0.6567	10	0.27082	T	0.32	-27.308	10.7407	0.46152	0.0:0.0:0.0:1.0	.	375	O75462	CRLF1_HUMAN	R	375	ENSP00000376188:K375R	ENSP00000376188:K375R	K	-	2	0	CRLF1	18566145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.994000	0.63901	1.641000	0.50575	0.402000	0.26972	AAG	.	.	none		0.701	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			C	18705145	T	C	18705145	3	2	23	1	0	0	0	0	1	0	0	0	3886	1609	56	3	156	3	CRLF1	19	18705145	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	142707	18705145	40423838	4265	20721										
COPE	11316	hgsc.bcm.edu	37	chr19	19011244	19011244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaggttgaccagcgtctcTgggtagccactatcctggag	13	10	1	2	rs1127821	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19011244T>C	ENST00000262812.4	-	8	798	c.750A>G	c.(748-750)ccA>ccG	p.P250P	COPE_ENST00000351079.4_Silent_p.P199P|COPE_ENST00000600932.1_Silent_p.P273P|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Silent_p.P198P	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	250					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CCAGCGTCTCTGGGTAGCCAC	0.662													C|||	1815	0.36242	0.3654	0.5994	5008	,	,		15588	0.1915		0.4841	False		,,,				2504	0.2413				p.P250P		Atlas-SNP	.											.	COPE	26	.	0			c.A750G						PASS	.	C	,,	1321,2265		262,797,734	31	26	28		750,597,594	-9.9	0.2	19	dbSNP_86	28	2857,3705		650,1557,1074	no	coding-synonymous,coding-synonymous,coding-synonymous	COPE	NM_007263.3,NM_199442.1,NM_199444.1	,,	912,2354,1808	CC,CT,TT		43.5386,36.8377,41.1707	,,	250/309,199/258,198/257	19011244	4178,5970	1793	3281	5074	SO:0001819	synonymous_variant	11316	exon8			CGTCTCTGGGTAG	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.750A>G	19.37:g.19011244T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	163	78	0.478528	NM_007263	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	ENST00000262812.4	37	CCDS12387.1																																																																																			T|0.421;G|0.095;C|0.305;A|0.179	0.305	strong		0.662	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		C	19011244	T	C	19011244	2	2	23	1	0	0	0	0	0	0	0	1	3730	1567	55	3		3	COPE	19	19011244	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	306099	19011244	40117739	4266	20722										
COPE	11316	hgsc.bcm.edu	37	chr19	19023853	19023853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtctctctctgggcttgaTagctgtgggaaccaatgtga	12	9	2	2	rs3177137	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19023853T>C	ENST00000262812.4	-	2	177	c.129A>G	c.(127-129)ctA>ctG	p.L43L	COPE_ENST00000351079.4_Silent_p.L43L|COPE_ENST00000600932.1_Silent_p.L43L|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Silent_p.L43L	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	43					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CTGGGCTTGATAGCTGTGGGA	0.617													C|||	1753	0.35004	0.3222	0.5836	5008	,	,		18947	0.1925		0.4871	False		,,,				2504	0.2434				p.L43L		Atlas-SNP	.											COPE,NS,adenoma,0,1	COPE	26	1	0			c.A129G						PASS	.	C	,,	1594,2812	663.6+/-401.2	303,988,912	127	91	103		129,129,129	-9.8	0	19	dbSNP_105	103	4168,4432	585.7+/-391.9	997,2174,1129	no	coding-synonymous,coding-synonymous,coding-synonymous	COPE	NM_007263.3,NM_199442.1,NM_199444.1	,,	1300,3162,2041	CC,CT,TT		48.4651,36.1779,44.3026	,,	43/309,43/258,43/257	19023853	5762,7244	2203	4300	6503	SO:0001819	synonymous_variant	11316	exon2			GCTTGATAGCTGT	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.129A>G	19.37:g.19023853T>C		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	75	42	0.56	NM_007263	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	ENST00000262812.4	37	CCDS12387.1																																																																																			T|0.586;C|0.414	0.414	strong		0.617	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		C	19023853	T	C	19023853	2	2	23	1	0	0	0	0	0	0	0	1	3730	1393	49	2		2	COPE	19	19023853	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12609	19023853	40105130	4267	20723										
MEF2B	100271849	hgsc.bcm.edu	37	chr19	19257101	19257102	+	Intron	INS	-	-	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgggctgggaggacacggcINSggggggcccatcacccctcg							TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19257101_19257102insG	ENST00000602424.2	-	9	1496				MEF2B_ENST00000410050.1_Frame_Shift_Ins_p.A295fs|MEF2B_ENST00000409224.1_Frame_Shift_Ins_p.A291fs|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Intron|MEF2B_ENST00000424583.2_Frame_Shift_Ins_p.A288fs|MEF2BNB-MEF2B_ENST00000514819.3_Intron|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000162023.5_Frame_Shift_Ins_p.A288fs	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B						muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GAGGACACGGCGGGGGGCCCAT	0.703											OREG0025379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A288fs		Atlas-Indel	.											.	MEF2B	41	.	0			c.862_863insC						PASS	.																																			SO:0001627	intron_variant	100271849	exon8			.	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.769+261->C	19.37:g.19257107_19257107dupG		Somatic	21	0	0	731	WXS	Illumina HiSeq	Phase_I	33	11	0.333333	NM_001145785	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Frame_Shift_Ins	INS	ENST00000602424.2	37	CCDS12394.1																																																																																			.	.	none		0.703	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		G	19257102	-	G	19257101	6	5	23	0	1	1	1	0	0	0	0	0	9456	768	27	0		0	MEF2B	19	19257101	Intron	INS	-	TCGA-GR-7353-01A-11D-2210-10	233248	19257101	39871882	4268	20724										
GATAD2A	54815	hgsc.bcm.edu	37	chr19	19612027	19612027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcgggaggagaagagcggCgccatcatgtgtgagaactg	18	7	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19612027C>T	ENST00000360315.3	+	9	1614	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	GATAD2A_ENST00000429563.2_Silent_p.G262G|GATAD2A_ENST00000358713.3_Silent_p.G434G|GATAD2A_ENST00000404158.1_Silent_p.G435G|GATAD2A_ENST00000537887.1_Silent_p.G63G|GATAD2A_ENST00000252577.5_Silent_p.G434G	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	434	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGAAGAGCGGCGCCATCATGT	0.627																																					p.G434G		Atlas-SNP	.											GATAD2A_ENST00000360315,colon,carcinoma,+2,2	GATAD2A	81	2	0			c.C1302T						PASS	.						49	40	43					19																	19612027		2203	4300	6503	SO:0001819	synonymous_variant	54815	exon9			GAGCGGCGCCATC	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1302C>T	19.37:g.19612027C>T		Somatic	228	1	0.00438596		WXS	Illumina HiSeq	Phase_I	226	108	0.477876	NM_017660	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	7.688	0.690376	0.15039	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52087	-0.8622	4	.	.	.	-20.9578	3.2541	0.06826	0.2384:0.4298:0.078:0.2537	.	.	.	.	C	61	.	.	R	+	1	0	GATAD2A	19473027	0.000000	0.05858	0.006000	0.13384	0.808000	0.45660	-5.377000	0.00127	-4.065000	0.00077	-0.158000	0.13435	CGC	.	.	none		0.627	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		T	19612027	C	T	19612027	2	4	23	1	0	0	0	0	0	0	0	1	6260	755	27	1		1	GATAD2A	19	19612027	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	354926	19612027	39516956	4269	20725										
NDUFA13	51079	hgsc.bcm.edu	37	chr19	19627083	19627083	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaagcaggacatgcctccGccggggggctatgggcccat	16	12	0	1	rs11552886		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19627083G>C	ENST00000507754.4	+	1	520	c.36G>C	c.(34-36)ccG>ccC	p.P12P	NDUFA13_ENST00000512771.3_Silent_p.P12P|NDUFA13_ENST00000252576.5_Silent_p.P95P|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000428459.2_Silent_p.P12P|CTC-260F20.3_ENST00000555938.1_Silent_p.P12P|TSSK6_ENST00000585580.3_5'Flank|YJEFN3_ENST00000608404.1_Silent_p.P12P|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Silent_p.P12P			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	12					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.P95P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						ACATGCCTCCGCCGGGGGGCT	0.622																																					p.P12P		Atlas-SNP	.											NDUFA13,NS,carcinoma,0,1	NDUFA13	17	1	1	Substitution - coding silent(1)	ovary(1)	c.G36C						scavenged	.						38	43	41					19																	19627083		2203	4300	6503	SO:0001819	synonymous_variant	51079	exon1			GCCTCCGCCGGGG	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.36G>C	19.37:g.19627083G>C		Somatic	262	2	0.00763359		WXS	Illumina HiSeq	Phase_I	243	112	0.460905	NM_015965	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	CCDS12404.2																																																																																			.	.	alt		0.622	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		C	19627083	G	C	19627083	2	2	23	1	0	0	0	0	0	0	0	1	10263	1074	38	4		4	NDUFA13	19	19627083	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15056	19627083	39501900	4270	20726										
CILP2	148113	hgsc.bcm.edu	37	chr19	19654517	19654517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagccagcctgcgacccccGgccccgagagtacctgatca	10	19	1	2	rs146711114	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19654517G>A	ENST00000291495.5	+	8	1248	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	CILP2_ENST00000586018.1_Missense_Mutation_p.R394Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	388						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCGACCCCCGGCCCCGAGAG	0.657													G|||	5	0.000998403	0.0	0.0	5008	,	,		15785	0.0		0.001	False		,,,				2504	0.0041				p.R388Q		Atlas-SNP	.											.	CILP2	84	.	0			c.G1163A						PASS	.	G	GLN/ARG	0,4406		0,0,2203	114	138	130		1163	-6	0	19	dbSNP_134	130	23,8577	15.3+/-51.7	0,23,4277	yes	missense	CILP2	NM_153221.2	43	0,23,6480	AA,AG,GG		0.2674,0.0,0.1768	benign	388/1157	19654517	23,12983	2203	4300	6503	SO:0001583	missense	148113	exon8			ACCCCCGGCCCCG	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1163G>A	19.37:g.19654517G>A	ENSP00000291495:p.Arg388Gln	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	154	68	0.441558	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.673	0.492689	0.12702	0.0	0.002674	ENSG00000160161	ENST00000291495	T	0.53640	0.61	4.22	-5.97	0.02227	.	0.509864	0.19308	N	0.117476	T	0.23572	0.0570	N	0.17082	0.46	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.26395	-1.0104	10	0.11794	T	0.64	-1.2252	13.3923	0.60830	0.3674:0.0:0.6326:0.0	.	388;388	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	388	ENSP00000291495:R388Q	ENSP00000291495:R388Q	R	+	2	0	CILP2	19515517	0.000000	0.05858	0.037000	0.18230	0.449000	0.32228	-1.455000	0.02379	-1.148000	0.02847	-0.465000	0.05216	CGG	G|0.998;A|0.002	0.002	strong		0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19654517	G	A	19654517	3	1	23	1	0	0	0	0	1	0	0	0	3430	1116	39	1	1193	1	CILP2	19	19654517	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27434	19654517	39474466	4271	20727										
LPAR2	9170	hgsc.bcm.edu	37	chr19	19737992	19737992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcagccccagtgccaccacGaccacatccttgggccgcca	9	19	1	0	rs150741448	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19737992G>A	ENST00000542587.1	-	5	1004	c.102C>T	c.(100-102)gtC>gtT	p.V34V	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.V34V|LPAR2_ENST00000586703.1_Silent_p.V34V			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	34					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GTGCCACCACGACCACATCCT	0.592													G|||	7	0.00139776	0.0	0.0029	5008	,	,		18269	0.0		0.005	False		,,,				2504	0.0				p.V34V		Atlas-SNP	.											.	LPAR2	28	.	0			c.C102T						PASS	.	G		4,4400	6.2+/-15.9	0,4,2198	33	32	33		102	-8.9	0.4	19	dbSNP_134	33	39,8561	24.0+/-70.4	0,39,4261	no	coding-synonymous	LPAR2	NM_004720.5		0,43,6459	AA,AG,GG		0.4535,0.0908,0.3307		34/352	19737992	43,12961	2202	4300	6502	SO:0001819	synonymous_variant	9170	exon2			CACCACGACCACA	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.102C>T	19.37:g.19737992G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	75	35	0.466667	NM_004720	O00543|O43431	Silent	SNP	ENST00000542587.1	37	CCDS12407.1																																																																																			G|0.997;A|0.003	0.003	strong		0.592	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		A	19737992	G	A	19737992	2	1	23	1	0	0	0	0	0	0	0	1	8905	1045	37	1		1	LPAR2	19	19737992	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	83475	19737992	39390991	4272	20728										
ATP13A1	57130	hgsc.bcm.edu	37	chr19	19758522	19758522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctgtcccggggccgccgTcgccgctcgacaacccgctc	14	19	0	0	rs142259293	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:19758522T>C	ENST00000357324.6	-	20	2705	c.2679A>G	c.(2677-2679)cgA>cgG	p.R893R	ATP13A1_ENST00000291503.5_Silent_p.R775R	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	893	Poly-Arg.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R893R(2)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCGCCGTCGCCGCTCGA	0.701													T|||	39	0.00778754	0.0008	0.0187	5008	,	,		12844	0.0		0.0239	False		,,,				2504	0.001				p.R893R	Esophageal Squamous(142;920 1789 9047 14684 24777)	Atlas-SNP	.											ATP13A1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ATP13A1	82	2	2	Substitution - coding silent(2)	central_nervous_system(1)|skin(1)	c.A2679G						PASS	.	T		11,4393		0,11,2191	17	17	17		2679	-10.5	0.6	19	dbSNP_134	17	165,8431		2,161,4135	no	coding-synonymous	ATP13A1	NM_020410.2		2,172,6326	CC,CT,TT		1.9195,0.2498,1.3538		893/1205	19758522	176,12824	2202	4298	6500	SO:0001819	synonymous_variant	57130	exon20			CCGCCGTCGCCGC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2679A>G	19.37:g.19758522T>C		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	82	41	0.5	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2																																																																																			T|0.989;C|0.011	0.011	strong		0.701	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		C	19758522	T	C	19758522	2	2	23	1	0	0	0	0	0	0	0	1	1123	1654	58	2		2	ATP13A1	19	19758522	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20530	19758522	39370461	4273	20729										
ZNF93	81931	hgsc.bcm.edu	37	chr19	20044041	20044041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccagagcagaacataaaaGattctttccaaaaagtgata	8	7	1	4	rs12151060	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:20044041G>T	ENST00000343769.5	+	4	305	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	93			D -> Y (in dbSNP:rs12151060). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAACATAAAAGATTCTTTCCA	0.328													g|||	940	0.1877	0.0809	0.17	5008	,	,		18208	0.4415		0.1531	False		,,,				2504	0.1186				p.D93Y		Atlas-SNP	.											.	ZNF93	81	.	0			c.G277T						PASS	.	G	TYR/ASP	457,3947	202.8+/-225.5	28,401,1773	56	59	58		277	0.9	0.3	19	dbSNP_120	58	1452,7148	271.6+/-289.6	119,1214,2967	no	missense	ZNF93	NM_031218.3	160	147,1615,4740	TT,TG,GG		16.8837,10.3769,14.6801	benign	93/621	20044041	1909,11095	2202	4300	6502	SO:0001583	missense	81931	exon4			ATAAAAGATTCTT	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.277G>T	19.37:g.20044041G>T	ENSP00000342002:p.Asp93Tyr	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	195	101	0.517949	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	489	0.2239010989010989	42	0.08536585365853659	50	0.13812154696132597	269	0.47027972027972026	128	0.16886543535620052	g	13.15	2.150834	0.37923	0.103769	0.168837	ENSG00000184635	ENST00000343769;ENST00000427325;ENST00000430434	T	0.05513	3.43	0.85	0.85	0.18980	.	.	.	.	.	T	0.00012	0.0000	M	0.84326	2.69	0.44268	P	0.0028719999999999857	P	0.37573	0.6	B	0.36922	0.236	T	0.40553	-0.9557	8	0.62326	D	0.03	.	4.7959	0.13272	0.0:0.0:1.0:0.0	rs12151060;rs52830493;rs12151060	93	P35789	ZNF93_HUMAN	Y	93;93;24	ENSP00000342002:D93Y	ENSP00000342002:D93Y	D	+	1	0	ZNF93	19905041	0.000000	0.05858	0.257000	0.24404	0.256000	0.26092	-2.231000	0.01206	0.192000	0.20272	0.195000	0.17529	GAT	G|0.821;T|0.179	0.179	strong		0.328	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		T	20044041	G	T	20044041	3	4	23	1	0	0	0	0	1	0	0	0	18199	942	33	4	291	4	ZNF93	19	20044041	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	285519	20044041	39084942	4274	20730										
ZNF85	7639	hgsc.bcm.edu	37	chr19	21133078	21133078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtccttactaaacataagatAattcataccggagaaaaatt	5	7	1	2	rs142868740	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21133078A>G	ENST00000328178.8	+	4	1871	c.1758A>G	c.(1756-1758)atA>atG	p.I586M	ZNF85_ENST00000345030.6_Missense_Mutation_p.I553M|ZNF85_ENST00000601023.1_Missense_Mutation_p.I527M	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	586					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACATAAGATAATTCATACCG	0.284													.|||	2	0.000399361	0.0	0.0	5008	,	,		18633	0.0		0.001	False		,,,				2504	0.001				p.I616M		Atlas-SNP	.											.	ZNF85	72	.	0			c.A1848G						PASS	.	A	MET/ILE	0,4396		0,0,2198	18	19	19		1758	1.3	0	19	dbSNP_134	19	12,8550		0,12,4269	yes	missense	ZNF85	NM_003429.4	10	0,12,6467	GG,GA,AA		0.1402,0.0,0.0926	benign	586/596	21133078	12,12946	2198	4281	6479	SO:0001583	missense	7639	exon5			TAAGATAATTCAT	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1758A>G	19.37:g.21133078A>G	ENSP00000329793:p.Ile586Met	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	98	46	0.469388	NM_001256171	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.029	-1.346964	0.01266	0.0	0.001402	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07444	3.19;3.19	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.12471	0.22	0.80722	D	1	P;B;P	0.44816	0.478;0.082;0.844	B;B;B	0.40165	0.272;0.002;0.321	T	0.48906	-0.8993	9	0.72032	D	0.01	.	5.3151	0.15850	0.7085:0.2915:0.0:0.0	.	553;527;586	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	M	586;553;461	ENSP00000329793:I586M;ENSP00000342340:I553M	ENSP00000329793:I586M	I	+	3	3	ZNF85	20924918	0.001000	0.12720	0.044000	0.18714	0.048000	0.14542	0.031000	0.13710	0.528000	0.28580	0.329000	0.21502	ATA	A|0.999;G|0.001	0.001	strong		0.284	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		G	21133078	A	G	21133078	3	3	23	1	0	0	0	0	1	0	0	0	18190	352	13	2	1772	2	ZNF85	19	21133078	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1089037	21133078	37995905	4275	20731										
ZNF431	170959	hgsc.bcm.edu	37	chr19	21326358	21326358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttattttcttccataggacgActtgaaatatggagtgtatc	8	6	1	1	rs17445374	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21326358A>G	ENST00000311048.7	+	2	152	c.8A>G	c.(7-9)gAc>gGc	p.D3G	ZNF431_ENST00000600692.1_Missense_Mutation_p.D3G|ZNF431_ENST00000594425.1_Missense_Mutation_p.D3G|ZNF431_ENST00000599296.1_Missense_Mutation_p.D3G	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	3			D -> G (in dbSNP:rs17445374).		cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CCATAGGACGACTTGAAATAT	0.423													.|||	681	0.135982	0.2814	0.1196	5008	,	,		16594	0.002		0.165	False		,,,				2504	0.0593				p.D3G		Atlas-SNP	.											.	ZNF431	71	.	0			c.A8G						PASS	.	A	GLY/ASP	1097,3309		132,833,1238	92	85	87		8	-0.9	0	19	dbSNP_123	87	1066,7534		64,938,3298	yes	missense	ZNF431	NM_133473.2	94	196,1771,4536	GG,GA,AA		12.3953,24.8979,16.6308	benign	3/577	21326358	2163,10843	2203	4300	6503	SO:0001583	missense	170959	exon2			AGGACGACTTGAA	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.8A>G	19.37:g.21326358A>G	ENSP00000308578:p.Asp3Gly	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	139	68	0.489209	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	311	0.1423992673992674	131	0.266260162601626	46	0.1270718232044199	0	0.0	134	0.17678100263852242	.	3.920	-0.018374	0.07681	0.248979	0.123953	ENSG00000196705	ENST00000311048	T	0.07800	3.16	0.461	-0.922	0.10468	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.29378	0.243	B	0.24541	0.054	T	0.48768	-0.9006	7	0.25751	T	0.34	.	.	.	.	rs17445374;rs57055495;rs17445374	3	Q8TF32	ZN431_HUMAN	G	3	ENSP00000308578:D3G	ENSP00000308578:D3G	D	+	2	0	ZNF431	21118198	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.501000	0.22578	-0.604000	0.05760	0.248000	0.18094	GAC	A|0.836;G|0.164	0.164	strong		0.423	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		G	21326358	A	G	21326358	3	3	23	1	0	0	0	0	1	0	0	0	17902	275	10	2	14	2	ZNF431	19	21326358	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	193280	21326358	37802625	4276	20732										
ZNF708	7562	hgsc.bcm.edu	37	chr19	21477403	21477403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taagtcccttgtgacctcctTtgtgcaacttatgctcatcc	6	13	1	1	rs1781872	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21477403T>G	ENST00000356929.3	-	4	562	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GTGACCTCCTTTGTGCAACTT	0.363													T|||	492	0.0982428	0.0651	0.1037	5008	,	,		17875	0.0069		0.1978	False		,,,				2504	0.1309				p.K122T		Atlas-SNP	.											.	ZNF708	66	.	0			c.A365C						PASS	.	T	THR/LYS	429,3977		24,381,1798	172	154	161		365	-0.8	0	19	dbSNP_89	161	1799,6801		204,1391,2705	yes	missense	ZNF708	NM_021269.2	78	228,1772,4503	GG,GT,TT		20.9186,9.7367,17.1306	benign	122/564	21477403	2228,10778	2203	4300	6503	SO:0001583	missense	7562	exon4			CCTCCTTTGTGCA	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.365A>C	19.37:g.21477403T>G	ENSP00000349401:p.Lys122Thr	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	133	58	0.43609	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	227	0.10393772893772894	34	0.06910569105691057	45	0.12430939226519337	5	0.008741258741258742	143	0.18865435356200527	.	7.383	0.629218	0.14257	0.097367	0.209186	ENSG00000182141	ENST00000356929	T	0.06687	3.27	1.07	-0.782	0.10961	.	.	.	.	.	T	0.00012	0.0000	M	0.86651	2.83	0.80722	P	0.0	P	0.39748	0.686	B	0.34242	0.178	T	0.21415	-1.0246	8	0.48119	T	0.1	.	4.6273	0.12484	0.0:0.0:0.317:0.683	rs1781872;rs17680541;rs52800300;rs1781872	122	P17019	ZN708_HUMAN	T	122	ENSP00000349401:K122T	ENSP00000349401:K122T	K	-	2	0	ZNF708	21269243	0.000000	0.05858	0.026000	0.17262	0.025000	0.11179	-0.456000	0.06754	0.402000	0.25451	0.391000	0.25812	AAA	T|0.851;G|0.149	0.149	strong		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		G	21477403	T	G	21477403	3	3	23	1	0	0	0	0	1	0	0	0	18109	1841	64	5	1330	5	ZNF708	19	21477403	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	151045	21477403	37651580	4277	20733										
ZNF493	284443	hgsc.bcm.edu	37	chr19	21606719	21606719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttataaggagtcttcacacCttactacacataaaagaatt	4	9	2	1	rs10414834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21606719C>G	ENST00000355504.4	+	2	1140	c.874C>G	c.(874-876)Ctt>Gtt	p.L292V	ZNF493_ENST00000392288.2_Missense_Mutation_p.L420V|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	292			L -> V (in dbSNP:rs10414834). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTCTTCACACCTTACTACACA	0.333													.|||	453	0.0904553	0.0386	0.1023	5008	,	,		19313	0.0179		0.1998	False		,,,				2504	0.1145				p.L420V		Atlas-SNP	.											.	ZNF493	178	.	0			c.C1258G						PASS	.	C	VAL/LEU,VAL/LEU	290,4106		13,264,1921	33	36	35		1258,874	1	0	19	dbSNP_119	35	1747,6839		186,1375,2732	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	32,32	199,1639,4653	GG,GC,CC		20.3471,6.5969,15.691	possibly-damaging,possibly-damaging	420/775,292/647	21606719	2037,10945	2198	4293	6491	SO:0001583	missense	284443	exon4			TCACACCTTACTA	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.874C>G	19.37:g.21606719C>G	ENSP00000347691:p.Leu292Val	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	228	0.1043956043956044	22	0.044715447154471545	46	0.1270718232044199	15	0.026223776223776224	145	0.19129287598944592	N	6.277	0.419191	0.11870	0.065969	0.203471	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.52983	0.64;0.64	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00109	0.0003	M	0.91354	3.2	0.38251	P	0.058401999999999954	P;P	0.46621	0.881;0.654	P;P	0.52627	0.669;0.704	T	0.04522	-1.0945	8	0.66056	D	0.02	.	5.1005	0.14756	0.0:0.7687:0.0:0.2313	rs10414834;rs52820517;rs61566728;rs10414834	292;420	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	V	420;292	ENSP00000376110:L420V;ENSP00000347691:L292V	ENSP00000347691:L292V	L	+	1	0	ZNF493	21398559	0.771000	0.28555	0.010000	0.14722	0.010000	0.07245	1.364000	0.34171	0.447000	0.26695	0.454000	0.30748	CTT	.	.	weak		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21606719	C	G	21606719	3	3	23	1	0	0	0	0	1	0	0	0	17941	681	24	4	1335	4	ZNF493	19	21606719	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	129316	21606719	37522264	4278	20734										
ZNF493	284443	hgsc.bcm.edu	37	chr19	21607252	21607252	+	Missense_Mutation	SNP	T	T	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacaagataattcatactgaTaagaaaccctacaaatgtga					rs142288436	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21607252T>A	ENST00000355504.4	+	2	1673	c.1407T>A	c.(1405-1407)gaT>gaA	p.D469E	ZNF493_ENST00000392288.2_Missense_Mutation_p.D597E|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCATACTGATAAGAAACCCT	0.333													.|||	3	0.000599042	0.0	0.0	5008	,	,		19829	0.0		0.003	False		,,,				2504	0.0				p.D597E		Atlas-SNP	.											.	ZNF493	178	.	0			c.T1791A						PASS	.						33	33	33					19																	21607252		2200	4298	6498	SO:0001583	missense	284443	exon4			TACTGATAAGAAA	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1407T>A	19.37:g.21607252T>A	ENSP00000347691:p.Asp469Glu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	66	11	0.166667	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	1.434	-0.569466	0.03910	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.16897	2.31;2.31	1.06	-2.12	0.07165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.02674	-0.535	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.31336	-0.9947	9	0.66056	D	0.02	.	3.2801	0.06912	0.5296:0.0:0.2843:0.1862	.	469;597	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	E	597;469	ENSP00000376110:D597E;ENSP00000347691:D469E	ENSP00000347691:D469E	D	+	3	2	ZNF493	21399092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.688000	0.01925	-3.330000	0.00186	-3.393000	0.00039	GAT	.	.	weak		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		A	21607252	T	A	21607252	3	1	23	1	0	0	0	0	1	0	0	0	17941	1403	49	5	1868	5	ZNF493	19	21607252	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	533	21607252	37521731	4279	20735	413	2								
ZNF493	284443	hgsc.bcm.edu	37	chr19	21607253	21607253	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaagataattcatactgatAagaaaccctacaaatgtgaa					rs150159158	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21607253A>G	ENST00000355504.4	+	2	1674	c.1408A>G	c.(1408-1410)Aag>Gag	p.K470E	ZNF493_ENST00000392288.2_Missense_Mutation_p.K598E|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TCATACTGATAAGAAACCCTA	0.338													.|||	3	0.000599042	0.0	0.0	5008	,	,		19874	0.0		0.003	False		,,,				2504	0.0				p.K598E		Atlas-SNP	.											.	ZNF493	178	.	0			c.A1792G						PASS	.						33	33	33					19																	21607253		2201	4298	6499	SO:0001583	missense	284443	exon4			ACTGATAAGAAAC	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1408A>G	19.37:g.21607253A>G	ENSP00000347691:p.Lys470Glu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	65	11	0.169231	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.049581	0.00394	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.12672	2.66;2.66	1.06	-2.12	0.07165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00191	-1.88	0.38843	D	0.956104	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.50575	-0.8812	9	0.02654	T	1	.	4.9183	0.13856	0.3932:0.1603:0.4464:0.0	.	470;598	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	E	598;470	ENSP00000376110:K598E;ENSP00000347691:K470E	ENSP00000347691:K470E	K	+	1	0	ZNF493	21399093	0.015000	0.18098	0.000000	0.03702	0.000000	0.00434	0.849000	0.27723	-2.911000	0.00308	-2.864000	0.00100	AAG	.	.	weak		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21607253	A	G	21607253	3	3	23	1	0	0	0	0	1	0	0	0	17941	363	13	2	1869	2	ZNF493	19	21607253	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1	21607253	37521730	4280	20736	413	2								
ZNF100	163227	hgsc.bcm.edu	37	chr19	21910125	21910125	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctgtgtgtagtaaggtgtGaggaccggttaaaagctttg	14	5	0	1	rs138292237	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:21910125G>T	ENST00000358296.6	-	5	1187	c.989C>A	c.(988-990)tCa>tAa	p.S330*	ZNF100_ENST00000305570.6_Nonsense_Mutation_p.S266*	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	330					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGTAAGGTGTGAGGACCGGTT	0.408													N|||	35	0.00698882	0.0	0.0101	5008	,	,		20645	0.005		0.0189	False		,,,				2504	0.0041				p.S330X		Atlas-SNP	.											.	ZNF100	62	.	0			c.C989A						PASS	.	G	stop/SER	12,4384		0,12,2186	65	69	68		989	-0.5	0.9	19	dbSNP_134	68	108,8482		0,108,4187	no	stop-gained	ZNF100	NM_173531.3		0,120,6373	TT,TG,GG		1.2573,0.273,0.9241		330/543	21910125	120,12866	2198	4295	6493	SO:0001587	stop_gained	163227	exon5			AGGTGTGAGGACC	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.989C>A	19.37:g.21910125G>T	ENSP00000351042:p.Ser330*	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	29	12	0.413793	NM_173531	Q7M4M0	Nonsense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	22	0.010073260073260074	0	0.0	4	0.011049723756906077	4	0.006993006993006993	14	0.018469656992084433	.	10.78	1.445657	0.25987	0.00273	0.012573	ENSG00000197020	ENST00000358296	.	.	.	0.841	-0.462	0.12168	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4567	0.11647	0.4667:0.0:0.5333:0.0	.	.	.	.	X	330	.	ENSP00000351042:S330X	S	-	2	0	ZNF100	21701965	0.007000	0.16637	0.876000	0.34364	0.877000	0.50540	1.566000	0.36396	0.182000	0.20032	0.185000	0.17295	TCA	G|0.990;T|0.010	0.010	strong		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		T	21910125	G	T	21910125	4	4	23	1	0	0	0	0	0	1	0	0	17710	1294	45	4	643	4	ZNF100	19	21910125	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	302872	21910125	37218858	4281	20737										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22154954	22154954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgaattttcttatgataaCtaagggttgaggatgactta	9	3	1	4	rs2214301	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22154954C>T	ENST00000397126.4	-	4	3030	c.2882G>A	c.(2881-2883)aGt>aAt	p.S961N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	961					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTATGATAACTAAGGGTTGA	0.338													N|||	2870	0.573083	0.6233	0.6326	5008	,	,		20861	0.6935		0.5716	False		,,,				2504	0.3405				p.S961N		Atlas-SNP	.											.	ZNF208	817	.	0			c.G2882A						PASS	.	G	ASN/SER	2644,1464		859,926,269	33	36	35		2882	-6	0	19	dbSNP_96	35	4807,3623		1360,2087,768	no	missense	ZNF208	NM_007153.3	46	2219,3013,1037	TT,TC,CC		42.9775,35.6378,40.5727		961/1281	22154954	7451,5087	2054	4215	6269	SO:0001583	missense	7757	exon4			TGATAACTAAGGG	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2882G>A	19.37:g.22154954C>T	ENSP00000380315:p.Ser961Asn	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	102	55	0.539216	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	1395	0.6387362637362637	330	0.6707317073170732	212	0.585635359116022	408	0.7132867132867133	445	0.5870712401055409	c	4.003	-0.002218	0.07819	0.643622	0.570225	ENSG00000160321	ENST00000397126	T	0.15718	2.4	3.0	-6.0	0.02206	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.34428	-0.9829	5	0.14252	T	0.57	.	2.2281	0.03990	0.2513:0.2554:0.3681:0.1252	rs52821215;rs58796195;rs62110923	.	.	.	N	961	ENSP00000380315:S961N	ENSP00000380315:S961N	S	-	2	0	ZNF208	21946794	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.748000	0.04818	-2.641000	0.00429	0.109000	0.15622	AGT	C|0.353;T|0.647	0.647	strong		0.338	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22154954	C	T	22154954	3	4	23	1	0	0	0	0	1	0	0	0	17763	565	20	2	964	2	ZNF208	19	22154954	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	244829	22154954	36974029	4282	20738										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22155918	22155918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaggttttgccacattcttTacatttgtagggcttctctc	7	9	2	0	rs10425763	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22155918T>C	ENST00000397126.4	-	4	2066	c.1918A>G	c.(1918-1920)Aaa>Gaa	p.K640E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	640			K -> E (in dbSNP:rs10425763).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTTACATTTGTAG	0.403													t|||	1741	0.347644	0.2685	0.4078	5008	,	,		21273	0.504		0.4602	False		,,,				2504	0.135				p.K640E		Atlas-SNP	.											.	ZNF208	817	.	0			c.A1918G						PASS	.	T	GLU/LYS	1226,3030		180,866,1082	93	97	96		1918	-5	0	19	dbSNP_119	96	3592,4920		757,2078,1421	no	missense	ZNF208	NM_007153.3	56	937,2944,2503	CC,CT,TT		42.1992,28.8064,37.735	benign	640/1281	22155918	4818,7950	2128	4256	6384	SO:0001583	missense	7757	exon4			ATTCTTTACATTT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1918A>G	19.37:g.22155918T>C	ENSP00000380315:p.Lys640Glu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	86	28	0.325581	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	905	0.4143772893772894	127	0.258130081300813	137	0.3784530386740331	288	0.5034965034965035	353	0.4656992084432718	T	0.043	-1.277267	0.01410	0.288064	0.421992	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.18810	2.19	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.22983	0.078	B	0.23716	0.048	T	0.39781	-0.9597	7	0.02654	T	1	.	2.1959	0.03911	0.1165:0.1577:0.1996:0.5263	rs10425763	540	O43345	ZN208_HUMAN	E	640;540	ENSP00000380315:K640E	ENSP00000380315:K640E	K	-	1	0	ZNF208	21947758	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-4.448000	0.00232	-2.224000	0.00725	-1.193000	0.01689	AAA	T|0.500;C|0.500	0.500	strong		0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155918	T	C	22155918	3	2	23	1	0	0	0	0	1	0	0	0	17763	1763	61	2	1928	2	ZNF208	19	22155918	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	964	22155918	36973065	4283	20739										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363610	22363610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtagggtttctctccagtAtgaattctcttatgttccat	7	8	2	1	rs201622264	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGTATGAATTCTCT	0.443																																					p.H303H		Atlas-SNP	.											ZNF676,rectum,carcinoma,0,2	ZNF676	146	2	0			c.T909C						scavenged	.						81	83	83					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223	exon3			TCCAGTATGAATT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.909T>C	19.37:g.22363610A>G		Somatic	43	1	0.0232558		WXS	Illumina HiSeq	Phase_I	43	11	0.255814	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			A|0.793;G|0.207	0.207	strong		0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363610	A	G	22363610	2	3	23	1	0	0	0	0	0	0	0	1	18080	446	16	2		2	ZNF676	19	22363610	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	207692	22363610	36765373	4284	20740										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22364230	22364230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggttaagtttattataacCttctttgtgcacgttacact	6	8	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22364230C>A	ENST00000397121.2	-	3	606	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTATTATAACCTTCTTTGTGC	0.313																																					p.G97C		Atlas-SNP	.											ZNF676,NS,carcinoma,+1,2	ZNF676	146	2	0			c.G289T						PASS	.						131	121	124					19																	22364230		1971	4181	6152	SO:0001583	missense	163223	exon3			TATAACCTTCTTT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.289G>T	19.37:g.22364230C>A	ENSP00000380310:p.Gly97Cys	Somatic	292	1	0.00342466		WXS	Illumina HiSeq	Phase_I	282	100	0.35461	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.866	-0.733679	0.03111	.	.	ENSG00000196109	ENST00000397121	T	0.07688	3.17	0.398	-0.797	0.10909	.	.	.	.	.	T	0.09247	0.0228	M	0.70842	2.15	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.33650	-0.9860	9	0.37606	T	0.19	.	4.101	0.10014	0.6355:0.3645:0.0:0.0	.	97	Q8N7Q3	ZN676_HUMAN	C	97	ENSP00000380310:G97C	ENSP00000380310:G97C	G	-	1	0	ZNF676	22156070	0.000000	0.05858	0.011000	0.14972	0.153000	0.21895	-0.155000	0.10115	-0.683000	0.05190	0.186000	0.17326	GGT	.	.	none		0.313	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22364230	C	A	22364230	3	1	23	1	0	0	0	0	1	0	0	0	18080	681	24	4	1481	4	ZNF676	19	22364230	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	620	22364230	36764753	4285	20741										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22574357	22574357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcttttatatttggaaatCtttgcaatgttgtcacaagc	6	6	3	0	rs200702907	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22574357C>G	ENST00000357774.5	-	4	1801	c.1680G>C	c.(1678-1680)aaG>aaC	p.K560N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K560N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGGAAATCTTTGCAATGT	0.323																																					p.K560N		Atlas-SNP	.											ZNF98_ENST00000357774,NS,carcinoma,0,4	ZNF98	230	4	2	Substitution - Missense(2)	prostate(2)	c.G1680C						scavenged	.						21	16	17					19																	22574357		1774	3947	5721	SO:0001583	missense	148198	exon4			GGAAATCTTTGCA		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1680G>C	19.37:g.22574357C>G	ENSP00000350418:p.Lys560Asn	Somatic	865	0	0		WXS	Illumina HiSeq	Phase_I	824	146	0.177184	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.422641	0.00186	.	.	ENSG00000197360	ENST00000357774	T	0.07688	3.17	1.39	0.147	0.14838	.	.	.	.	.	T	0.02193	0.0068	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41858	-0.9485	9	0.05959	T	0.93	.	0.0912	0.00040	0.3312:0.2373:0.1958:0.2357	.	560	A6NK75	ZNF98_HUMAN	N	560	ENSP00000350418:K560N	ENSP00000350418:K560N	K	-	3	2	ZNF98	22366197	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.155000	0.01284	-0.971000	0.03564	-0.764000	0.03450	AAG	C|0.500;G|0.500	0.500	weak		0.323	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22574357	C	G	22574357	3	3	23	1	0	0	0	0	1	0	0	0	18200	912	32	4	42	4	ZNF98	19	22574357	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	210127	22574357	36554626	4286	20742										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22575488	22575488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttttcacattctttacaCttgaaagatttctttccagt	4	9	3	2	rs7247735	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22575488C>T	ENST00000357774.5	-	4	670	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	183					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)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTCTTTACACTTGAAAGATT	0.299													t|||	1998	0.398962	0.413	0.4784	5008	,	,		17504	0.4107		0.4642	False		,,,				2504	0.2444				p.K183K		Atlas-SNP	.											.	ZNF98	230	.	0			c.G549A						PASS	.						26	26	26					19																	22575488		2020	4207	6227	SO:0001819	synonymous_variant	148198	exon4			TTTACACTTGAAA		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.549G>A	19.37:g.22575488C>T		Somatic	403	1	0.00248139		WXS	Illumina HiSeq	Phase_I	281	111	0.395018	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																			C|0.551;T|0.449	0.449	strong		0.299	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575488	C	T	22575488	2	4	23	1	0	0	0	0	0	0	0	1	18200	564	20	2		2	ZNF98	19	22575488	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1131	22575488	36553495	4287	20743										
ZNF98	148198	hgsc.bcm.edu	37	chr19	22586192	22586192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaagttatcctcacccacAaagaccaggtttctgtagtt	7	10	2	2	rs1368476	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22586192A>G	ENST00000357774.5	-	2	274	c.153T>C	c.(151-153)ttT>ttC	p.F51F	ZNF98_ENST00000601553.1_Silent_p.F51F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	51	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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTCACCCACAAAGACCAGGT	0.368													N|||	1945	0.388379	0.3858	0.4769	5008	,	,		14594	0.3988		0.4612	False		,,,				2504	0.2434				p.F51F		Atlas-SNP	.											.	ZNF98	230	.	0			c.T153C						PASS	.						73	76	75					19																	22586192		2171	4270	6441	SO:0001819	synonymous_variant	148198	exon2			ACCCACAAAGACC		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.153T>C	19.37:g.22586192A>G		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	138	56	0.405797	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																			G|1.000;|0.000	1.000	weak		0.368	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22586192	A	G	22586192	2	3	23	1	0	0	0	0	0	0	0	1	18200	127	5	2		2	ZNF98	19	22586192	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10704	22586192	36542791	4288	20744										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22846623	22846623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtatgttcttattttgcccGagacctttggccaaagcagg	10	9	1	1	rs71355986	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22846623G>A	ENST00000456783.2	+	4	396	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R51Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TATTTTGCCCGAGACCTTTGG	0.284													N|||	1067	0.213059	0.4054	0.134	5008	,	,		14205	0.1736		0.1362	False		,,,				2504	0.1288				p.R51Q		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G152A						scavenged	.						18	20	20					19																	22846623		1801	4095	5896	SO:0001583	missense	57615	exon4			TTGCCCGAGACCT	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.152G>A	19.37:g.22846623G>A	ENSP00000413660:p.Arg51Gln	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	55	10	0.181818	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	409	0.18727106227106227	166	0.33739837398373984	54	0.14917127071823205	99	0.17307692307692307	90	0.11873350923482849	.	0.007	-1.940811	0.00479	.	.	ENSG00000229676	ENST00000456783	T	0.06687	3.27	1.12	-0.367	0.12541	.	.	.	.	.	T	0.00012	0.0000	N	0.00014	-2.9	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	8	0.02654	T	1	.	4.7284	0.12952	0.4846:0.0:0.5154:0.0	.	51	Q9P255	ZN492_HUMAN	Q	51	ENSP00000413660:R51Q	ENSP00000413660:R51Q	R	+	2	0	ZNF492	22638463	0.000000	0.05858	0.053000	0.19242	0.052000	0.14988	-0.921000	0.04008	-0.964000	0.03595	-0.974000	0.02594	CGA	G|0.827;A|0.173	0.173	strong		0.284	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		A	22846623	G	A	22846623	3	1	23	1	0	0	0	0	1	0	0	0	17940	1058	37	1	162	1	ZNF492	19	22846623	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	260431	22846623	36282360	4289	20745										
ZNF492	57615	hgsc.bcm.edu	37	chr19	22848028	22848028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcttgtgacaacattgcaaaGatttccaaatataaaagaaa	6	6	0	3	rs3745115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22848028G>C	ENST00000456783.2	+	4	1801	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K519N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATTGCAAAGATTTCCAAAT	0.323													N|||	980	0.195687	0.354	0.1268	5008	,	,		20410	0.1667		0.1302	False		,,,				2504	0.1278				p.K519N		Atlas-SNP	.											ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	stomach(1)	c.G1557C						scavenged	.						18	18	18					19																	22848028		1781	4025	5806	SO:0001583	missense	57615	exon4			TGCAAAGATTTCC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1557G>C	19.37:g.22848028G>C	ENSP00000413660:p.Lys519Asn	Somatic	836	0	0		WXS	Illumina HiSeq	Phase_I	793	200	0.252207	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.565994	0.00134	.	.	ENSG00000229676	ENST00000456783	T	0.07688	3.17	1.03	-2.06	0.07298	.	.	.	.	.	T	0.02156	0.0067	N	0.03000	-0.44	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	8	0.07482	T	0.82	.	0.2809	0.00244	0.2469:0.289:0.2459:0.2181	rs3745115;rs7259827;rs59664756	519	Q9P255	ZN492_HUMAN	N	519	ENSP00000413660:K519N	ENSP00000413660:K519N	K	+	3	2	ZNF492	22639868	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.195000	0.09546	-1.287000	0.02381	-1.858000	0.00562	AAG	G|0.500;C|0.500	0.500	weak		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22848028	G	C	22848028	3	2	23	1	0	0	0	0	1	0	0	0	17940	933	33	4	1567	4	ZNF492	19	22848028	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1405	22848028	36280955	4290	20746										
ZNF99	7652	hgsc.bcm.edu	37	chr19	22940659	22940659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgagaaatggttaaaagcCttgccacattcttcacattt	7	9	2	1	rs59621958	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22940659C>T	ENST00000596209.1	-	4	2142	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.K593K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTAAAAGCCTTGCCACATT	0.378													T|||	1087	0.217053	0.4213	0.1326	5008	,	,		20012	0.1726		0.1362	False		,,,				2504	0.1299				p.K684K		Atlas-SNP	.											.	ZNF99	273	.	0			c.G2052A						PASS	.	T		1486,2718		256,974,872	46	49	48		1779	0.2	0	19	dbSNP_129	48	980,7520		67,846,3337	no	coding-synonymous	ZNF99	NM_001080409.2		323,1820,4209	TT,TC,CC		11.5294,35.3473,19.4112		593/912	22940659	2466,10238	2102	4250	6352	SO:0001819	synonymous_variant	7652	exon4			AAAAGCCTTGCCA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2052G>A	19.37:g.22940659C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	60	28	0.466667	NM_001080409	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																			C|0.826;T|0.174	0.174	strong		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22940659	C	T	22940659	2	4	23	1	0	0	0	0	0	0	0	1	18201	680	24	2		2	ZNF99	19	22940659	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92631	22940659	36188324	4291	20747			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22940694	22940694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatttgtagggtttctcttCagtatgaattactttatgtc	7	6	2	1	rs62119157	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22940694C>T	ENST00000596209.1	-	4	2107	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	ZNF99_ENST00000397104.3_Missense_Mutation_p.E582K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E582K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTCTTCAGTATGAATT	0.363													C|||	449	0.0896565	0.0681	0.0879	5008	,	,		20352	0.0933		0.0934	False		,,,				2504	0.1125				p.E673K		Atlas-SNP	.											ZNF99,NS,carcinoma,0,1	ZNF99	273	1	1	Substitution - Missense(1)	stomach(1)	c.G2017A						PASS	.	T	LYS/GLU	270,3994		9,252,1871	48	51	50		1744	-2.6	0	19	dbSNP_129	50	761,7751		38,685,3533	no	missense	ZNF99	NM_001080409.2	56	47,937,5404	TT,TC,CC		8.9403,6.3321,8.0698	benign	582/912	22940694	1031,11745	2132	4256	6388	SO:0001583	missense	7652	exon4			TCTCTTCAGTATG	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2017G>A	19.37:g.22940694C>T	ENSP00000472969:p.Glu673Lys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	75	32	0.426667	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	186	0.08516483516483517	35	0.07113821138211382	39	0.10773480662983426	52	0.09090909090909091	60	0.079155672823219	c	9.496	1.101957	0.20632	0.063321	0.089403	ENSG00000213973	ENST00000397104	T	0.15834	2.39	1.29	-2.57	0.06248	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	N	0.11154	0.105	0.58432	P	2.9999999999752447E-6	B	0.06786	0.001	B	0.04013	0.001	T	0.31833	-0.9929	8	0.62326	D	0.03	.	6.0523	0.19792	0.0:0.6058:0.0:0.3942	rs62119157	582	A8MXY4	ZNF99_HUMAN	K	582	ENSP00000380293:E582K	ENSP00000380293:E582K	E	-	1	0	ZNF99	22732534	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.218000	0.17622	-0.701000	0.05063	-2.083000	0.00378	GAA	C|0.913;T|0.087	0.087	strong		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22940694	C	T	22940694	3	4	23	1	0	0	0	0	1	0	0	0	18201	835	29	2	1380	2	ZNF99	19	22940694	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	35	22940694	36188289	4292	20748			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22940827	22940827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgaggactggctaaaagcTttgccacattcttcacattt	8	9	2	1	rs142615427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22940827T>C	ENST00000596209.1	-	4	1974	c.1884A>G	c.(1882-1884)aaA>aaG	p.K628K	ZNF99_ENST00000397104.3_Silent_p.K537K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	628					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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTAAAAGCTTTGCCACATT	0.383													T|||	447	0.0892572	0.0681	0.0879	5008	,	,		20061	0.0933		0.0924	False		,,,				2504	0.1115				p.K628K		Atlas-SNP	.											.	ZNF99	273	.	0			c.A1884G						PASS	.	T		247,3709		8,231,1739	36	38	37		1611	0	0.1	19	dbSNP_134	37	697,7647		32,633,3507	no	coding-synonymous	ZNF99	NM_001080409.2		40,864,5246	CC,CT,TT		8.3533,6.2437,7.6748		537/912	22940827	944,11356	1978	4172	6150	SO:0001819	synonymous_variant	7652	exon4			AAAAGCTTTGCCA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1884A>G	19.37:g.22940827T>C		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	52	31	0.596154	NM_001080409	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																			T|0.921;C|0.079	0.079	strong		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22940827	T	C	22940827	2	2	23	1	0	0	0	0	0	0	0	1	18201	1606	56	3		3	ZNF99	19	22940827	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	133	22940827	36188156	4293	20749			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22941071	22941071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcataagggttgaggaattgTtaaaagctttgccacattct	9	6	2	1	rs144632185	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22941071T>C	ENST00000596209.1	-	4	1730	c.1640A>G	c.(1639-1641)aAc>aGc	p.N547S	ZNF99_ENST00000397104.3_Missense_Mutation_p.N456S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N456S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAGGAATTGTTAAAAGCTTT	0.343													T|||	449	0.0896565	0.0681	0.0879	5008	,	,		20699	0.0933		0.0934	False		,,,				2504	0.1125				p.N547S		Atlas-SNP	.											ZNF99,NS,carcinoma,0,1	ZNF99	273	1	1	Substitution - Missense(1)	stomach(1)	c.A1640G						scavenged	.	T	SER/ASN	272,3842		9,254,1794	40	42	41		1367	-2.6	0	19	dbSNP_134	41	760,7660		38,684,3488	no	missense	ZNF99	NM_001080409.2	46	47,938,5282	CC,CT,TT		9.0261,6.6116,8.2336	benign	456/912	22941071	1032,11502	2057	4210	6267	SO:0001583	missense	7652	exon4			GAATTGTTAAAAG	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1640A>G	19.37:g.22941071T>C	ENSP00000472969:p.Asn547Ser	Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	90	49	0.544444	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	189	0.08653846153846154	35	0.07113821138211382	39	0.10773480662983426	52	0.09090909090909091	63	0.08311345646437995	-	0.001	-3.452171	0.00012	0.066116	0.090261	ENSG00000213973	ENST00000397104	T	0.38077	1.16	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	N	0.01824	-0.7	0.80722	P	0.0	B	0.15930	0.015	B	0.17722	0.019	T	0.07597	-1.0764	8	0.02654	T	1	.	2.3696	0.04327	0.15:0.2608:0.4351:0.1541	.	456	A8MXY4	ZNF99_HUMAN	S	456	ENSP00000380293:N456S	ENSP00000380293:N456S	N	-	2	0	ZNF99	22732911	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-6.223000	0.00075	-2.013000	0.00949	-0.847000	0.03039	AAC	T|0.913;C|0.087	0.087	strong		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22941071	T	C	22941071	3	2	23	1	0	0	0	0	1	0	0	0	18201	1725	60	2	1757	2	ZNF99	19	22941071	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	244	22941071	36187912	4294	20750			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22941591	22941591	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgctaaaagctttgccgcAttcttcatatttgtagggtt	8	7	2	0	rs62119159	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22941591A>T	ENST00000596209.1	-	4	1210	c.1120T>A	c.(1120-1122)Tgc>Agc	p.C374S	ZNF99_ENST00000397104.3_Missense_Mutation_p.C283S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C283S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTTGCCGCATTCTTCATAT	0.363													A|||	448	0.0894569	0.0681	0.0879	5008	,	,		19708	0.0933		0.0934	False		,,,				2504	0.1115				p.C374S		Atlas-SNP	.											ZNF99,NS,carcinoma,0,1	ZNF99	273	1	1	Substitution - Missense(1)	stomach(1)	c.T1120A						PASS	.	A	SER/CYS	265,3805		9,247,1779	87	94	92		847	1.1	0	19	dbSNP_129	92	767,7637		39,689,3474	no	missense	ZNF99	NM_001080409.2	112	48,936,5253	TT,TA,AA		9.1266,6.5111,8.2732	probably-damaging	283/912	22941591	1032,11442	2035	4202	6237	SO:0001583	missense	7652	exon4			TGCCGCATTCTTC	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1120T>A	19.37:g.22941591A>T	ENSP00000472969:p.Cys374Ser	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	84	30	0.357143	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	191	0.08745421245421245	35	0.07113821138211382	39	0.10773480662983426	52	0.09090909090909091	65	0.08575197889182058	N	9.311	1.055510	0.19907	0.065111	0.091266	ENSG00000213973	ENST00000397104	D	0.85861	-2.04	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	H	0.96996	3.92	0.33547	P	0.40431799999999996	D	0.89917	1.0	D	0.97110	1.0	T	0.72394	-0.4307	8	0.72032	D	0.01	.	5.689	0.17819	1.0:0.0:0.0:0.0	rs62119159	283	A8MXY4	ZNF99_HUMAN	S	283	ENSP00000380293:C283S	ENSP00000380293:C283S	C	-	1	0	ZNF99	22733431	0.899000	0.30636	0.032000	0.17829	0.031000	0.12232	4.564000	0.60830	0.465000	0.27167	0.325000	0.21440	TGC	A|0.911;T|0.089	0.089	strong		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22941591	A	T	22941591	3	4	23	1	0	0	0	0	1	0	0	0	18201	217	8	5	2277	5	ZNF99	19	22941591	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	520	22941591	36187392	4295	20751			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22941617	22941617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catatttgtagggtttctctTcagtatgaattatctcatgt	7	6	3	1	rs58653025	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22941617T>C	ENST00000596209.1	-	4	1184	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E274G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E274G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTCTTCAGTATGAAT	0.368													C|||	1087	0.217053	0.4206	0.1326	5008	,	,		19505	0.1746		0.1362	False		,,,				2504	0.1288				p.E365G		Atlas-SNP	.											ZNF99,NS,carcinoma,0,1	ZNF99	273	1	1	Substitution - Missense(1)	stomach(1)	c.A1094G						scavenged	.	C	GLY/GLU	1432,2612		250,932,840	69	77	74		821	0.3	0	19	dbSNP_129	74	994,7436		67,860,3288	no	missense	ZNF99	NM_001080409.2	98	317,1792,4128	CC,CT,TT		11.7912,35.4105,19.4485	benign	274/912	22941617	2426,10048	2022	4215	6237	SO:0001583	missense	7652	exon4			TTCTCTTCAGTAT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1094A>G	19.37:g.22941617T>C	ENSP00000472969:p.Glu365Gly	Somatic	62	2	0.0322581		WXS	Illumina HiSeq	Phase_I	67	30	0.447761	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	454	0.2078754578754579	203	0.41260162601626016	54	0.14917127071823205	104	0.18181818181818182	93	0.12269129287598944	-	0.008	-1.877054	0.00537	0.354105	0.117912	ENSG00000213973	ENST00000397104	T	0.11821	2.74	1.46	0.302	0.15786	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00496	-1.435	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.44498	-0.9324	8	0.02654	T	1	.	6.1729	0.20427	0.0:0.6931:0.0:0.3069	rs58653025	274	A8MXY4	ZNF99_HUMAN	G	274	ENSP00000380293:E274G	ENSP00000380293:E274G	E	-	2	0	ZNF99	22733457	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.130000	0.10498	-0.501000	0.06605	-0.526000	0.04340	GAA	T|0.811;C|0.189	0.189	strong		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22941617	T	C	22941617	3	2	23	1	0	0	0	0	1	0	0	0	18201	1783	62	2	2303	2	ZNF99	19	22941617	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	26	22941617	36187366	4296	20752			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF99	7652	hgsc.bcm.edu	37	chr19	22942335	22942335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttattataagcttcttcgtGcatcttaccctcattgacac	4	11	3	1	rs61740110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:22942335G>A	ENST00000596209.1	-	4	466	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	ZNF99_ENST00000397104.3_Missense_Mutation_p.H147Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H147Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTCTTCGTGCATCTTACCC	0.303													G|||	425	0.0848642	0.0545	0.085	5008	,	,		16121	0.0933		0.0905	False		,,,				2504	0.1115				p.H126Y		Atlas-SNP	.											ZNF99,right_upper_lobe,carcinoma,+2,2	ZNF99	273	2	1	Substitution - Missense(1)	stomach(1)	c.C376T						PASS	.	G	TYR/HIS	194,3542		6,182,1680	109	104	105		439	-1.8	0	19	dbSNP_129	105	748,7460		39,670,3395	yes	missense	ZNF99	NM_001080409.2	83	45,852,5075	AA,AG,GG		9.1131,5.1927,7.8868	benign	147/912	22942335	942,11002	1868	4104	5972	SO:0001583	missense	7652	exon4			CTTCGTGCATCTT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.376C>T	19.37:g.22942335G>A	ENSP00000472969:p.His126Tyr	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	184	0.08424908424908426	30	0.06097560975609756	37	0.10220994475138122	52	0.09090909090909091	65	0.08575197889182058	N	0.004	-2.248013	0.00271	0.051927	0.091131	ENSG00000213973	ENST00000397104	T	0.06218	3.33	0.88	-1.76	0.08006	.	.	.	.	.	T	0.00144	0.0004	L	0.50993	1.605	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.47799	-0.9089	8	0.08837	T	0.75	.	5.1406	0.14957	0.2404:0.0:0.7596:0.0	rs61740110	147	A8MXY4	ZNF99_HUMAN	Y	147	ENSP00000380293:H147Y	ENSP00000380293:H147Y	H	-	1	0	ZNF99	22734175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.366000	0.20365	-0.982000	0.03515	-1.014000	0.02459	CAC	G|0.915;A|0.085	0.085	strong		0.303	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22942335	G	A	22942335	3	1	23	1	0	0	0	0	1	0	0	0	18201	1319	46	2	2689	2	ZNF99	19	22942335	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	718	22942335	36186648	4297	20753			19	88	7948614	7	7	1677	N	T_G_C_A	3.360864e-07
ZNF91	7644	hgsc.bcm.edu	37	chr19	23544515	23544515	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtatgaataaacttatgtatAgtaagatttgaagatcgatt	8	2	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:23544515A>T	ENST00000300619.7	-	4	1471	c.1266T>A	c.(1264-1266)acT>acA	p.T422T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.T390T|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	422					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACTTATGTATAGTAAGATTTG	0.338																																					p.T422T		Atlas-SNP	.											ZNF91_ENST00000300619,NS,lymphoid_neoplasm,-1,2	ZNF91	349	2	0			c.T1266A						PASS	.						13	13	13					19																	23544515		1849	4026	5875	SO:0001819	synonymous_variant	7644	exon4			ATGTATAGTAAGA	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1266T>A	19.37:g.23544515A>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	111	37	0.333333	NM_003430	A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	CCDS42541.1																																																																																			.	.	none		0.338	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		T	23544515	A	T	23544515	2	4	23	1	0	0	0	0	0	0	0	1	18197	407	15	5		5	ZNF91	19	23544515	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	602180	23544515	35584468	4298	20754										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31768416	31768416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcggcggggtggccacagcAgccttctccgccaggctgtt	16	14	1	0	rs3745784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:31768416A>G	ENST00000240587.4	-	2	2610	c.2283T>C	c.(2281-2283)gcT>gcC	p.A761A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	761					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGCCACAGCAGCCTTCTCCG	0.592													G|||	1558	0.311102	0.5923	0.2637	5008	,	,		15913	0.249		0.1133	False		,,,				2504	0.2321				p.A761A		Atlas-SNP	.											.	TSHZ3	549	.	0			c.T2283C						PASS	.	G		2295,2111	570.4+/-382.8	610,1075,518	63	64	64		2283	-8.5	0.7	19	dbSNP_107	64	1147,7453	759.6+/-407.6	79,989,3232	no	coding-synonymous	TSHZ3	NM_020856.2		689,2064,3750	GG,GA,AA		13.3372,47.9119,26.4647		761/1082	31768416	3442,9564	2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			CACAGCAGCCTTC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2283T>C	19.37:g.31768416A>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	133	56	0.421053	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			A|0.717;G|0.283	0.283	strong		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31768416	A	G	31768416	2	3	23	1	0	0	0	0	0	0	0	1	16622	175	7	3		3	TSHZ3	19	31768416	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	8223901	31768416	27360567	4299	20755										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31769293	31769293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcgacttccttcttgaccTccacattcagttttggggag	9	11	2	1	rs143453460	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:31769293T>C	ENST00000240587.4	-	2	1733	c.1406A>G	c.(1405-1407)gAg>gGg	p.E469G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	469			E -> G (in dbSNP:rs143453460). {ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:19745106}.		in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCTTGACCTCCACATTCAG	0.542													T|||	18	0.00359425	0.0	0.0086	5008	,	,		18888	0.0		0.0099	False		,,,				2504	0.002				p.E469G		Atlas-SNP	.											TSHZ3_ENST00000240587,NS,carcinoma,+1,2	TSHZ3	549	2	0			c.A1406G						PASS	.	T	GLY/GLU	8,4398	12.9+/-30.5	0,8,2195	152	154	153		1406	5.6	1	19	dbSNP_134	153	102,8498	54.8+/-115.7	0,102,4198	yes	missense	TSHZ3	NM_020856.2	98	0,110,6393	CC,CT,TT		1.186,0.1816,0.8458	probably-damaging	469/1082	31769293	110,12896	2203	4300	6503	SO:0001583	missense	57616	exon2			TTGACCTCCACAT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1406A>G	19.37:g.31769293T>C	ENSP00000240587:p.Glu469Gly	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	199	108	0.542714	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	11	0.005036630036630037	0	0.0	5	0.013812154696132596	0	0.0	6	0.0079155672823219	T	18.15	3.560653	0.65538	0.001816	0.01186	ENSG00000121297	ENST00000240587	T	0.38077	1.16	5.55	5.55	0.83447	.	0.052145	0.85682	D	0.000000	T	0.49898	0.1584	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.54957	-0.8215	10	0.44086	T	0.13	-30.6092	15.7178	0.77681	0.0:0.0:0.0:1.0	.	469	Q63HK5	TSH3_HUMAN	G	469	ENSP00000240587:E469G	ENSP00000240587:E469G	E	-	2	0	TSHZ3	36461133	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.849000	0.69465	2.099000	0.63709	0.533000	0.62120	GAG	T|0.991;C|0.009	0.009	strong		0.542	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31769293	T	C	31769293	3	2	23	1	0	0	0	0	1	0	0	0	16622	1551	54	3	1843	3	TSHZ3	19	31769293	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	877	31769293	27359690	4300	20756										
TSHZ3	57616	hgsc.bcm.edu	37	chr19	31770009	31770009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccgtctcgttcatgtgcacCgtcaactccaccagggtgtc	9	16	3	0	rs28609894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:31770009C>T	ENST00000240587.4	-	2	1017	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	230					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCATGTGCACCGTCAACTCCA	0.597													C|||	1576	0.314696	0.4304	0.2651	5008	,	,		19559	0.2331		0.2187	False		,,,				2504	0.3763				p.T230T		Atlas-SNP	.											.	TSHZ3	549	.	0			c.G690A						PASS	.	C		1793,2613	529.0+/-372.6	385,1023,795	194	174	181		690	-7.6	0.9	19	dbSNP_125	181	1893,6707	336.8+/-322.0	214,1465,2621	no	coding-synonymous	TSHZ3	NM_020856.2		599,2488,3416	TT,TC,CC		22.0116,40.6945,28.3408		230/1082	31770009	3686,9320	2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			GTGCACCGTCAAC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.690G>A	19.37:g.31770009C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	66	0.970588	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																			C|0.717;T|0.283	0.283	strong		0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31770009	C	T	31770009	2	4	23	1	0	0	0	0	0	0	0	1	16622	639	23	1		1	TSHZ3	19	31770009	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	716	31770009	27358974	4301	20757										
C19orf40	91442	hgsc.bcm.edu	37	chr19	33467576	33467576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatccatgccttcttcacGcagcccaggtgagggctggc	12	14	2	2	rs7258185	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33467576G>A	ENST00000588258.1	+	5	746	c.636G>A	c.(634-636)acG>acA	p.T212T	C19orf40_ENST00000589646.1_Silent_p.T117T|C19orf40_ENST00000590281.1_Silent_p.T212T|C19orf40_ENST00000590179.1_Silent_p.T117T	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	212	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CCTTCTTCACGCAGCCCAGGT	0.537								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	a|||	1346	0.26877	0.3094	0.4366	5008	,	,		19432	0.1647		0.2157	False		,,,				2504	0.2566				p.T212T		Atlas-SNP	.											.	C19orf40	21	.	0			c.G636A						PASS	.	A		1337,3069	694.4+/-405.8	196,945,1062	83	75	78		636	-3.4	0.8	19	dbSNP_116	78	1979,6621	723.3+/-406.4	202,1575,2523	no	coding-synonymous	C19orf40	NM_152266.3		398,2520,3585	AA,AG,GG		23.0116,30.345,25.4959		212/216	33467576	3316,9690	2203	4300	6503	SO:0001819	synonymous_variant	91442	exon5			CTTCACGCAGCCC	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.636G>A	19.37:g.33467576G>A		Somatic	117	0	0	840	WXS	Illumina HiSeq	Phase_I	88	40	0.454545	NM_152266	B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	CCDS12426.1																																																																																			G|0.753;A|0.247	0.247	strong		0.537	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		A	33467576	G	A	33467576	2	1	23	1	0	0	0	0	0	0	0	1	1923	1074	38	1		1	C19orf40	19	33467576	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1697567	33467576	25661407	4302	20758										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33579128	33579128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgattccacggggcctttagTggaggtttctctgctggata	13	9	1	0	rs7259333	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33579128T>C	ENST00000170564.2	+	2	476	c.162T>C	c.(160-162)agT>agC	p.S54S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	54					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCCTTTAGTGGAGGTTTCT	0.363													C|||	2674	0.533946	0.8018	0.2867	5008	,	,		13444	0.5099		0.2416	False		,,,				2504	0.6728				p.S54S	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.T162C						PASS	.	C		3204,1202	416.7+/-337.7	1159,886,158	96	101	99		162	-4	0.7	19	dbSNP_116	99	2313,6287	705.1+/-405.5	284,1745,2271	no	coding-synonymous	GPATCH1	NM_018025.2		1443,2631,2429	CC,CT,TT		26.8953,27.281,42.4189		54/932	33579128	5517,7489	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			CTTTAGTGGAGGT	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.162T>C	19.37:g.33579128T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	150	69	0.46	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			T|0.549;C|0.451	0.451	strong		0.363	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33579128	T	C	33579128	2	2	23	1	0	0	0	0	0	0	0	1	6590	1693	59	2		2	GPATCH1	19	33579128	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	111552	33579128	25549855	4303	20759										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33600764	33600764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagagcagcagagcccagcTctcccctgcagcggctgctg	12	16	2	2	rs2287679	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33600764T>C	ENST00000170564.2	+	11	1741	c.1427T>C	c.(1426-1428)cTc>cCc	p.L476P		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	476			L -> P (in dbSNP:rs2287679). {ECO:0000269|PubMed:17974005}.		mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAGCCCAGCTCTCCCCTGCA	0.552													C|||	2672	0.533546	0.8003	0.2867	5008	,	,		16368	0.5079		0.2416	False		,,,				2504	0.6748				p.L476P	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.T1427C						PASS	.	C	PRO/LEU	3203,1203	401.0+/-331.8	1159,885,159	39	40	40		1427	5.7	0.1	19	dbSNP_100	40	2297,6303	678.3+/-403.4	281,1735,2284	yes	missense	GPATCH1	NM_018025.2	98	1440,2620,2443	CC,CT,TT		26.7093,27.3037,42.2882	benign	476/932	33600764	5500,7506	2203	4300	6503	SO:0001583	missense	55094	exon11			CCCAGCTCTCCCC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1427T>C	19.37:g.33600764T>C	ENSP00000170564:p.Leu476Pro	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	63	32	0.507937	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	970	0.4441391941391941	386	0.7845528455284553	107	0.2955801104972376	285	0.4982517482517482	192	0.2532981530343008	C	2.963	-0.214135	0.06101	0.726963	0.267093	ENSG00000076650	ENST00000170564	T	0.30182	1.54	5.74	5.74	0.90152	.	0.773566	0.12715	N	0.445174	T	0.00012	0.0000	N	0.01081	-1.03	0.41672	P	0.010757000000000017	B	0.02656	0.0	B	0.04013	0.001	T	0.30679	-0.9970	9	0.30078	T	0.28	-0.2351	9.4371	0.38646	0.0:0.7817:0.0:0.2183	rs2287679;rs57097144;rs2287679	476	Q9BRR8	GPTC1_HUMAN	P	476	ENSP00000170564:L476P	ENSP00000170564:L476P	L	+	2	0	GPATCH1	38292604	0.001000	0.12720	0.127000	0.21898	0.004000	0.04260	1.138000	0.31491	1.454000	0.47793	-0.119000	0.15052	CTC	T|0.541;C|0.459	0.459	strong		0.552	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33600764	T	C	33600764	3	2	23	1	0	0	0	0	1	0	0	0	6590	1551	54	3	1469	3	GPATCH1	19	33600764	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	21636	33600764	25528219	4304	20760										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33602757	33602757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtcctccaggttcactcaCgccaaggaggaggatgactc	11	12	2	1	rs10420258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33602757C>T	ENST00000170564.2	+	12	2027	c.1713C>T	c.(1711-1713)caC>caT	p.H571H		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	571					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGTTCACTCACGCCAAGGAGG	0.552													C|||	1019	0.203474	0.1082	0.1254	5008	,	,		17067	0.3333		0.1382	False		,,,				2504	0.3211				p.H571H	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.C1713T						PASS	.	C		481,3925	226.2+/-241.8	23,435,1745	116	97	103		1713	-4.7	0.4	19	dbSNP_119	103	1334,7266	262.1+/-284.2	97,1140,3063	no	coding-synonymous	GPATCH1	NM_018025.2		120,1575,4808	TT,TC,CC		15.5116,10.9169,13.9551		571/932	33602757	1815,11191	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon12			CACTCACGCCAAG	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1713C>T	19.37:g.33602757C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	147	56	0.380952	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			C|0.829;T|0.171	0.171	strong		0.552	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33602757	C	T	33602757	2	4	23	1	0	0	0	0	0	0	0	1	6590	535	19	1		1	GPATCH1	19	33602757	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1993	33602757	25526226	4305	20761										
GPATCH1	55094	hgsc.bcm.edu	37	chr19	33605300	33605300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtaaacaaagaggaagagcAtgcaccagaattatccgcaa	9	8	0	3	rs10416265	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33605300A>G	ENST00000170564.2	+	15	2485	c.2171A>G	c.(2170-2172)cAt>cGt	p.H724R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	724			H -> R (in dbSNP:rs10416265). {ECO:0000269|PubMed:17974005}.		mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGGAAGAGCATGCACCAGAA	0.438													G|||	2967	0.592452	0.7239	0.3386	5008	,	,		18961	0.8433		0.2475	False		,,,				2504	0.6912				p.H724R	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.A2171G						PASS	.	G	ARG/HIS	2963,1443	466.2+/-354.4	998,967,238	70	77	75		2171	-8.9	0	19	dbSNP_119	75	2340,6260	703.4+/-405.3	294,1752,2254	yes	missense	GPATCH1	NM_018025.2	29	1292,2719,2492	GG,GA,AA		27.2093,32.7508,40.7735	benign	724/932	33605300	5303,7703	2203	4300	6503	SO:0001583	missense	55094	exon15			AAGAGCATGCACC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2171A>G	19.37:g.33605300A>G	ENSP00000170564:p.His724Arg	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	107	44	0.411215	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	1164	0.532967032967033	358	0.7276422764227642	116	0.32044198895027626	493	0.8618881118881119	197	0.2598944591029024	G	3.646	-0.072520	0.07228	0.672492	0.272093	ENSG00000076650	ENST00000170564	T	0.20332	2.08	5.32	-8.87	0.00792	.	1.955520	0.02032	N	0.048608	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24764	-1.0151	9	0.14656	T	0.56	4.8647	9.3731	0.38266	0.2957:0.3351:0.3692:0.0	rs10416265;rs60644468;rs10416265	724;724	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	R	724	ENSP00000170564:H724R	ENSP00000170564:H724R	H	+	2	0	GPATCH1	38297140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.933000	0.01553	-2.702000	0.00398	-0.748000	0.03510	CAT	A|0.517;G|0.483	0.483	strong		0.438	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		G	33605300	A	G	33605300	3	3	23	1	0	0	0	0	1	0	0	0	6590	217	8	2	2229	2	GPATCH1	19	33605300	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2543	33605300	25523683	4306	20762										
WDR88	126248	hgsc.bcm.edu	37	chr19	33635761	33635761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatttgaggatccggtggaCggttctgtggttcgcgattt	15	6	1	2	rs3848596	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33635761C>T	ENST00000355868.3	+	3	475	c.399C>T	c.(397-399)gaC>gaT	p.D133D	WDR88_ENST00000361680.2_Silent_p.D133D|WDR88_ENST00000592765.1_Silent_p.D133D	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	133										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATCCGGTGGACGGTTCTGTGG	0.532													T|||	2560	0.511182	0.4932	0.5692	5008	,	,		18215	0.5258		0.3241	False		,,,				2504	0.6718				p.D133D		Atlas-SNP	.											.	WDR88	50	.	0			c.C399T						PASS	.	T		2109,2297	600.6+/-389.5	503,1103,597	123	92	103		399	-2	0	19	dbSNP_108	103	2903,5697	669.9+/-402.7	472,1959,1869	yes	coding-synonymous	WDR88	NM_173479.3		975,3062,2466	TT,TC,CC		33.7558,47.8665,38.5361		133/473	33635761	5012,7994	2203	4300	6503	SO:0001819	synonymous_variant	126248	exon3			GGTGGACGGTTCT	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.399C>T	19.37:g.33635761C>T		Somatic	241	1	0.00414938		WXS	Illumina HiSeq	Phase_I	175	84	0.48	NM_173479	Q8NEF8	Silent	SNP	ENST00000355868.3	37	CCDS12429.1																																																																																			C|0.574;N|0.000	.	strong		0.532	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		T	33635761	C	T	33635761	2	4	23	1	0	0	0	0	0	0	0	1	17332	535	19	1		1	WDR88	19	33635761	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30461	33635761	25493222	4307	20763										
LRP3	4037	hgsc.bcm.edu	37	chr19	33698448	33698448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgctccccaatgctggaGgccagcgatgatgaggccct	12	15	0	2	rs3745973	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:33698448G>A	ENST00000253193.7	+	7	2482	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	760					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAATGCTGGAGGCCAGCGATG	0.657													G|||	407	0.08127	0.0038	0.1052	5008	,	,		13745	0.2024		0.0726	False		,,,				2504	0.0532				p.E760E		Atlas-SNP	.											.	LRP3	46	.	0			c.G2280A						PASS	.	G		76,4244		2,72,2086	15	17	16		2280	3.6	1	19	dbSNP_107	16	568,7864		18,532,3666	no	coding-synonymous	LRP3	NM_002333.3		20,604,5752	AA,AG,GG		6.7362,1.7593,5.0502		760/771	33698448	644,12108	2160	4216	6376	SO:0001819	synonymous_variant	4037	exon7			GCTGGAGGCCAGC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2280G>A	19.37:g.33698448G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_002333	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																			G|0.910;C|0.000;A|0.090	0.090	strong		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			A	33698448	G	A	33698448	2	1	23	1	0	0	0	0	0	0	0	1	8958	991	35	2		2	LRP3	19	33698448	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	62687	33698448	25430535	4308	20764										
ZNF181	339318	hgsc.bcm.edu	37	chr19	35232368	35232368	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaaaggccttcattcataGgtcatctctcattcaccatc	6	12	6	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:35232368G>C	ENST00000492450.1	+	4	1171	c.1082G>C	c.(1081-1083)aGg>aCg	p.R361T	ZNF181_ENST00000459757.2_Missense_Mutation_p.R360T|ZNF181_ENST00000392232.3_Missense_Mutation_p.R405T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R297T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCATTCATAGGTCATCTCTC	0.393																																					p.R361T		Atlas-SNP	.											ZNF181,NS,carcinoma,0,1	ZNF181	65	1	1	Substitution - Missense(1)	endometrium(1)	c.G1082C						scavenged	.						58	58	58					19																	35232368		2203	4300	6503	SO:0001583	missense	339318	exon4			TTCATAGGTCATC	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1082G>C	19.37:g.35232368G>C	ENSP00000420727:p.Arg361Thr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	140	6	0.0428571	NM_001029997	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	4.274	0.050021	0.08243	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07114	3.22;3.22;3.22	2.84	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.37897	1.145	0.09310	N	1	B;B	0.31790	0.34;0.288	B;B	0.24269	0.052;0.045	T	0.31998	-0.9923	9	0.22109	T	0.4	.	5.8316	0.18584	0.1455:0.0:0.8545:0.0	.	360;361	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	T	405;360;361;360	ENSP00000376065:R405T;ENSP00000420727:R361T;ENSP00000419435:R360T	ENSP00000376065:R405T	R	+	2	0	ZNF181	39924208	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.914000	0.04038	1.876000	0.54355	0.561000	0.74099	AGG	.	.	none		0.393	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		C	35232368	G	C	35232368	3	2	23	1	0	0	0	0	1	0	0	0	17746	1000	35	4	1096	4	ZNF181	19	35232368	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1533920	35232368	23896615	4309	20765										
FXYD3	5349	hgsc.bcm.edu	37	chr19	35612159	35612159	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctactatggtgagagccCgtgccccctttcccctcccc	7	18	1	1	rs2290649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:35612159C>G	ENST00000344013.6	+	5	293				FXYD3_ENST00000605677.1_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000603449.1_Missense_Mutation_p.P36R|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000454903.2_Missense_Mutation_p.P36R|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000605552.1_Missense_Mutation_p.P36R|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604804.1_Intron			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGTGAGAGCCCGTGCCCCCTT	0.532													C|||	1186	0.236821	0.1815	0.415	5008	,	,		16551	0.2798		0.2455	False		,,,				2504	0.1319				p.P36R		Atlas-SNP	.											.	FXYD3	15	.	0			c.C107G						PASS	.	C	,,ARG/PRO,ARG/PRO,,,,	875,3531	336.5+/-304.4	90,695,1418	78	81	80		,,107,107,,,,	-8.3	0	19	dbSNP_100	80	2177,6423	370.0+/-335.7	295,1587,2418	yes	intron,intron,missense,missense,intron,intron,intron,intron	FXYD3	NM_001136007.1,NM_001136008.1,NM_001136009.1,NM_001136010.1,NM_001136011.1,NM_001136012.1,NM_005971.3,NM_021910.2	,,103,103,,,,	385,2282,3836	GG,GC,CC		25.314,19.8593,23.4661	,,,,,,,	,,36/62,36/62,,,,	35612159	3052,9954	2203	4300	6503	SO:0001627	intron_variant	5349	exon5			AGAGCCCGTGCCC	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"FXYD domain-containing ion transport regulator 3"	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.97+10C>G	19.37:g.35612159C>G		Somatic	278	1	0.00359712		WXS	Illumina HiSeq	Phase_I	240	121	0.504167	NM_001136010	A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	CCDS12442.1	615	0.2815934065934066	103	0.20934959349593496	138	0.3812154696132597	187	0.3269230769230769	187	0.24670184696569922	C	1.879	-0.458439	0.04508	0.198593	0.25314	ENSG00000089356	ENST00000454903	.	.	.	4.16	-8.32	0.00996	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	5	.	.	.	.	4.2527	0.10702	0.0743:0.1728:0.2715:0.4814	rs2290649	36	C9JDU2	.	R	36	.	.	P	+	2	0	FXYD3	40303999	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.795000	0.01752	-2.597000	0.00453	-1.729000	0.00701	CCG	C|0.741;G|0.259	0.259	strong		0.532	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		G	35612159	C	G	35612159	1	3	23	0	1	0	0	0	0	0	0	0	6119	652	23	4		4	FXYD3	19	35612159	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	379791	35612159	23516824	4310	20766										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002421	36002421	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctgccactgctgctgccAccactgctgctgccattgtt	9	16	0	0	rs72334573	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36002421A>G	ENST00000339686.3	-	5	986	c.810T>C	c.(808-810)ggT>ggC	p.G270G	DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000418261.1_Silent_p.G270G|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000440396.1_Silent_p.G270G|DMKN_ENST00000424570.2_Silent_p.G270G|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000447113.2_Silent_p.G270G|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000451297.2_Silent_p.G270G|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000402589.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	270	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			tgctgctgccaccactgctgc	0.652																																					p.G270G		Atlas-SNP	.											DMKN,colon,carcinoma,0,1	DMKN	116	1	0			c.T810C						PASS	.						30	23	25					19																	36002421		2166	4245	6411	SO:0001819	synonymous_variant	93099	exon5			GCTGCCACCACTG	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.810T>C	19.37:g.36002421A>G		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	72	6	0.0833333	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	none		0.652	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		G	36002421	A	G	36002421	2	3	23	1	0	0	0	0	0	0	0	1	4582	146	6	2		2	DMKN	19	36002421	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	390262	36002421	23126562	4311	20767										
SBSN	374897	hgsc.bcm.edu	37	chr19	36015652	36015652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgaaaggcgtgttgacCgaggcctgcaattcaaggac	13	8	1	3	rs17705633	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36015652C>T	ENST00000452271.2	-	3	1738	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SBSN_ENST00000518157.1_Silent_p.S227S	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	570						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGTGTTGACCGAGGCCTGCA	0.597													C|||	500	0.0998403	0.0825	0.0951	5008	,	,		18374	0.0248		0.1581	False		,,,				2504	0.1442				p.S570S		Atlas-SNP	.											.	SBSN	58	.	0			c.G1710A						PASS	.	C	,,	458,3948	216.1+/-234.9	22,414,1767	131	106	115		1710,447,681	2	1	19	dbSNP_123	115	1478,7122	280.8+/-294.7	137,1204,2959	no	coding-synonymous,coding-synonymous,coding-synonymous	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	,,	159,1618,4726	TT,TC,CC		17.186,10.3949,14.8854	,,	570/591,149/170,227/248	36015652	1936,11070	2203	4300	6503	SO:0001819	synonymous_variant	374897	exon3			GTTGACCGAGGCC	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1710G>A	19.37:g.36015652C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	116	61	0.525862	NM_001166034	A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																			C|0.874;T|0.126	0.126	strong		0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		T	36015652	C	T	36015652	2	4	23	1	0	0	0	0	0	0	0	1	13864	639	23	1		1	SBSN	19	36015652	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	13231	36015652	23113331	4312	20768										
UPK1A	11045	hgsc.bcm.edu	37	chr19	36157740	36157740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtctgcggcagcagcggaggCcgagaagggatctccagttg	17	10	2	1	rs61741212	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36157740C>T	ENST00000222275.2	+	1	26	c.26C>T	c.(25-27)gCc>gTc	p.A9V	UPK1A_ENST00000379013.2_Missense_Mutation_p.A9V|RN7SL765P_ENST00000580260.1_RNA|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	9					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCGGAGGCCGAGAAGGGA	0.612													C|||	764	0.152556	0.2753	0.0562	5008	,	,		17149	0.0278		0.1123	False		,,,				2504	0.2249				p.A9V		Atlas-SNP	.											.	UPK1A	23	.	0			c.C26T						PASS	.	C	VAL/ALA	1011,3395	375.1+/-321.5	123,765,1315	147	136	139		26	-3.1	0	19	dbSNP_129	139	949,7651	209.6+/-250.7	53,843,3404	yes	missense	UPK1A	NM_007000.2	64	176,1608,4719	TT,TC,CC		11.0349,22.946,15.07	benign	9/259	36157740	1960,11046	2203	4300	6503	SO:0001583	missense	11045	exon1			CGGAGGCCGAGAA	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.26C>T	19.37:g.36157740C>T	ENSP00000222275:p.Ala9Val	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	235	107	0.455319	NM_007000	Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	CCDS12470.1	259	0.11858974358974358	130	0.26422764227642276	27	0.07458563535911603	14	0.024475524475524476	88	0.11609498680738786	C	13.21	2.167807	0.38315	0.22946	0.110349	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.06849	3.43;3.25	4.23	-3.14	0.05250	.	1.673270	0.03514	N	0.219987	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.46965	-0.9153	9	0.30854	T	0.27	.	1.2775	0.02033	0.1348:0.2769:0.1798:0.4085	rs61741212	9;9	O00322-2;O00322	.;UPK1A_HUMAN	V	9	ENSP00000222275:A9V;ENSP00000368298:A9V	ENSP00000222275:A9V	A	+	2	0	UPK1A	40849580	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	-1.225000	0.02956	-0.417000	0.07461	0.655000	0.94253	GCC	C|0.856;T|0.144	0.144	strong		0.612	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			T	36157740	C	T	36157740	3	4	23	1	0	0	0	0	1	0	0	0	17004	739	26	2	28	2	UPK1A	19	36157740	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	142088	36157740	22971243	4313	20769										
KIRREL2	84063	hgsc.bcm.edu	37	chr19	36351935	36351935	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacccgccgcggtggcgcGcaggtacagccctaaatctg	14	14	1	0	rs35854130	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36351935G>T	ENST00000360202.5	+	8	1251	c.1053G>T	c.(1051-1053)gcG>gcT	p.A351A	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.A351A|KIRREL2_ENST00000347900.6_Silent_p.A301A|KIRREL2_ENST00000262625.7_Silent_p.A351A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	351	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGGTGGCGCGCAGGTACAGC	0.677													G|||	895	0.178714	0.2042	0.1527	5008	,	,		15275	0.0139		0.2296	False		,,,				2504	0.2802				p.A351A		Atlas-SNP	.											.	KIRREL2	170	.	0			c.G1053T						PASS	.	G	,,	915,3469		114,687,1391	12	14	13		1053,903,1053	-4.8	0.2	19	dbSNP_126	13	1946,6610		222,1502,2554	no	coding-synonymous,coding-synonymous,coding-synonymous	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	,,	336,2189,3945	TT,TG,GG		22.7443,20.8714,22.1097	,,	351/634,301/584,351/709	36351935	2861,10079	2192	4278	6470	SO:0001819	synonymous_variant	84063	exon8			TGGCGCGCAGGTA	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1053G>T	19.37:g.36351935G>T		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	27	18	0.666667	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																			G|0.811;T|0.189	0.189	strong		0.677	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		T	36351935	G	T	36351935	2	4	23	1	0	0	0	0	0	0	0	1	8325	1074	38	4		4	KIRREL2	19	36351935	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	194195	36351935	22777048	4314	20770										
TYROBP	7305	hgsc.bcm.edu	37	chr19	36398454	36398454	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcacgatccctgccagcacGcccgggctcaccgtagagca	10	17	2	1	rs111477177	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36398454G>C	ENST00000262629.4	-	3	189	c.123C>G	c.(121-123)ggC>ggG	p.G41G	TYROBP_ENST00000544690.2_Silent_p.G30G|TYROBP_ENST00000424586.3_Silent_p.G30G|TYROBP_ENST00000585901.2_Silent_p.G41G|TYROBP_ENST00000589517.1_Silent_p.G41G	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	41					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCAGCACGCCCGGGCTCA	0.672													G|||	56	0.0111821	0.0008	0.0202	5008	,	,		16218	0.0		0.0348	False		,,,				2504	0.0061				p.G41G		Atlas-SNP	.											TYROBP,NS,carcinoma,-2,1	TYROBP	15	1	0			c.C123G						scavenged	.	G	,,,	36,4370	36.8+/-68.6	0,36,2167	36	38	37		90,90,123,123	-10.3	0	19	dbSNP_132	37	366,8234	115.9+/-175.7	8,350,3942	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TYROBP	NM_001173514.1,NM_001173515.1,NM_003332.3,NM_198125.2	,,,	8,386,6109	CC,CG,GG		4.2558,0.8171,3.0909	,,,	30/103,30/102,41/114,41/113	36398454	402,12604	2203	4300	6503	SO:0001819	synonymous_variant	7305	exon3			CAGCACGCCCGGG	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"killer activating receptor associated protein", "DNAX-activation protein 12"	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.123C>G	19.37:g.36398454G>C		Somatic	133	2	0.0150376		WXS	Illumina HiSeq	Phase_I	108	46	0.425926	NM_198125	A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	ENST00000262629.4	37	CCDS12482.1																																																																																			A|0.000;C|0.024;G|0.976	0.024	strong		0.672	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			C	36398454	G	C	36398454	2	2	23	1	0	0	0	0	0	0	0	1	16812	1074	38	4		4	TYROBP	19	36398454	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	46519	36398454	22730529	4315	20771										
WDR62	284403	hgsc.bcm.edu	37	chr19	36595436	36595436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggtgcacttggtctgttAcagggcagccctgcccgctg	13	14	1	0	rs1008328	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36595436A>C	ENST00000270301.7	+	31	4155	c.4155A>C	c.(4153-4155)ttA>ttC	p.L1385F	WDR62_ENST00000401500.2_Missense_Mutation_p.L1390F			O43379	WDR62_HUMAN	WD repeat domain 62	1385			L -> F (in dbSNP:rs1008328). {ECO:0000269|PubMed:15057824, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L1385F(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGTCTGTTACAGGGCAGCC	0.617													C|||	3587	0.716254	0.7035	0.781	5008	,	,		20079	0.752		0.7843	False		,,,				2504	0.5808				p.L1390F		Atlas-SNP	.											WDR62,NS,carcinoma,0,1	WDR62	102	1	1	Substitution - Missense(1)	prostate(1)	c.A4170C						scavenged	.	C	PHE/LEU,PHE/LEU	3066,1340	448.3+/-348.6	1074,918,211	68	59	62		4170,4155	2	0	19	dbSNP_86	62	6676,1924	339.1+/-323.0	2591,1494,215	yes	missense,missense	WDR62	NM_001083961.1,NM_173636.4	22,22	3665,2412,426	CC,CA,AA		22.3721,30.4131,25.0961	benign,benign	1390/1524,1385/1519	36595436	9742,3264	2203	4300	6503	SO:0001583	missense	284403	exon31			TCTGTTACAGGGC	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.4155A>C	19.37:g.36595436A>C	ENSP00000270301:p.Leu1385Phe	Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	1671	0.7651098901098901	349	0.709349593495935	279	0.7707182320441989	451	0.7884615384615384	592	0.7810026385224275	C	5.933	0.356107	0.11239	0.695869	0.776279	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47869	0.92;0.83	4.1	1.96	0.26148	.	5.597880	0.00357	N	0.000020	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.40887	-0.9539	9	0.10111	T	0.7	1.95	2.8656	0.05600	0.1879:0.5308:0.1815:0.0999	rs1008328;rs1140947;rs17845535;rs17858431;rs59629216;rs1008328	1390;1385	O43379-4;O43379	.;WDR62_HUMAN	F	1390;1385	ENSP00000384792:L1390F;ENSP00000270301:L1385F	ENSP00000270301:L1385F	L	+	3	2	WDR62	41287276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.322000	0.19576	0.303000	0.22785	-0.143000	0.13931	TTA	A|0.255;C|0.745	0.745	strong		0.617	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		C	36595436	A	C	36595436	3	2	23	1	0	0	0	0	1	0	0	0	17310	388	14	5	4292	5	WDR62	19	36595436	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	196982	36595436	22533547	4316	20772										
ZNF146	7705	hgsc.bcm.edu	37	chr19	36727365	36727365	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcacacctcagccagcagaGaatttacagtggggaaaacc	10	11	2	1	rs2070132	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:36727365G>A	ENST00000443387.2	+	4	1015	c.23G>A	c.(22-24)aGa>aAa	p.R8K	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.R8K	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	8			R -> K (in dbSNP:rs2070132). {ECO:0000269|PubMed:11306801, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8107129}.		regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCAGCAGAGAATTTACAGT	0.433													G|||	1938	0.386981	0.3041	0.33	5008	,	,		18898	0.4683		0.3807	False		,,,				2504	0.4622				p.R8K		Atlas-SNP	.											.	ZNF146	32	.	0			c.G23A						PASS	.	G	LYS/ARG,LYS/ARG,LYS/ARG	1500,2906	472.2+/-356.3	272,956,975	44	46	46		23,23,23	-1.9	0.3	19	dbSNP_96	46	3401,5199	499.6+/-375.0	697,2007,1596	yes	missense,missense,missense	ZNF146	NM_001099638.1,NM_001099639.1,NM_007145.2	26,26,26	969,2963,2571	AA,AG,GG		39.5465,34.0445,37.6826	benign,benign,benign	8/293,8/293,8/293	36727365	4901,8105	2203	4300	6503	SO:0001583	missense	7705	exon3			AGCAGAGAATTTA	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.23G>A	19.37:g.36727365G>A	ENSP00000392095:p.Arg8Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	99	56	0.565657	NM_001099638	Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	CCDS12492.1	815	0.3731684981684982	154	0.3130081300813008	134	0.3701657458563536	243	0.42482517482517484	284	0.37467018469656993	G	11.56	1.675475	0.29783	0.340445	0.395465	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.17054	2.3;2.3	4.46	-1.92	0.07618	.	0.499069	0.17087	N	0.187536	T	0.00012	0.0000	L	0.31578	0.945	0.39327	P	0.03465399999999996	B	0.06786	0.001	B	0.08055	0.003	T	0.48559	-0.9025	9	0.52906	T	0.07	-9.1357	9.9012	0.41348	0.5376:0.0:0.4624:0.0	rs2070132;rs17639642;rs52831725;rs59509631;rs2070132	8	Q15072	OZF_HUMAN	K	8	ENSP00000392095:R8K;ENSP00000400391:R8K	ENSP00000392095:R8K	R	+	2	0	ZNF146	41419205	0.000000	0.05858	0.294000	0.24946	0.816000	0.46133	-0.758000	0.04766	-0.180000	0.10637	-0.806000	0.03193	AGA	G|0.622;A|0.378	0.378	strong		0.433	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		A	36727365	G	A	36727365	3	1	23	1	0	0	0	0	1	0	0	0	17730	942	33	2	25	2	ZNF146	19	36727365	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	131929	36727365	22401618	4317	20773										
ZNF345	25850	hgsc.bcm.edu	37	chr19	37368535	37368535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatgtggtaaggcctttaGttttggatcagcccttactc	10	8	1	1	rs112729744	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:37368535G>C	ENST00000529555.1	+	2	1591	c.803G>C	c.(802-804)aGt>aCt	p.S268T	ZNF345_ENST00000589046.1_Missense_Mutation_p.S268T|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.S268T			Q14585	ZN345_HUMAN	zinc finger protein 345	268					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTTAGTTTTGGATCA	0.418													G|||	10	0.00199681	0.0	0.0058	5008	,	,		21427	0.0		0.006	False		,,,				2504	0.0				p.S268T		Atlas-SNP	.											.	ZNF345	68	.	0			c.G803C						PASS	.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER	11,4395	16.8+/-37.8	0,11,2192	84	87	86		803,803,803,803,803	1.6	1	19	dbSNP_132	86	106,8494	57.2+/-118.5	1,104,4195	no	missense,missense,missense,missense,missense	ZNF345	NM_001242472.1,NM_001242474.1,NM_001242475.1,NM_001242476.1,NM_003419.4	58,58,58,58,58	1,115,6387	CC,CG,GG		1.2326,0.2497,0.8996	benign,benign,benign,benign,benign	268/489,268/489,268/489,268/489,268/489	37368535	117,12889	2203	4300	6503	SO:0001583	missense	25850	exon4			CCTTTAGTTTTGG	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.803G>C	19.37:g.37368535G>C	ENSP00000431202:p.Ser268Thr	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	131	70	0.534351	NM_001242476		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	7	0.003205128205128205	0	0.0	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	4.013	-0.000126	0.07819	0.002497	0.012326	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07567	3.18;3.18	3.96	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	L	0.31371	0.925	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33929	-0.9849	9	0.35671	T	0.21	.	11.5634	0.50792	0.0:0.5461:0.4539:0.0	.	268	Q14585	ZN345_HUMAN	T	268;268;32	ENSP00000431216:S268T;ENSP00000431202:S268T	ENSP00000442320:S32T	S	+	2	0	ZNF345	42060375	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.912000	0.04046	0.347000	0.23924	0.561000	0.74099	AGT	G|0.993;C|0.007	0.007	strong		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			C	37368535	G	C	37368535	3	2	23	1	0	0	0	0	1	0	0	0	17856	1029	36	4	805	4	ZNF345	19	37368535	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	641170	37368535	21760448	4318	20774										
ZNF345	25850	hgsc.bcm.edu	37	chr19	37369032	37369032	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgtaaggagtgtgggaagGctttttatagtggctcaagc	14	4	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:37369032G>C	ENST00000529555.1	+	2	2088	c.1300G>C	c.(1300-1302)Gct>Cct	p.A434P	ZNF345_ENST00000589046.1_Missense_Mutation_p.A434P|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.A434P			Q14585	ZN345_HUMAN	zinc finger protein 345	434					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGGGAAGGCTTTTTATAG	0.423																																					p.A434P		Atlas-SNP	.											.	ZNF345	68	.	0			c.G1300C						PASS	.						79	81	80					19																	37369032		2203	4300	6503	SO:0001583	missense	25850	exon4			GGGAAGGCTTTTT	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1300G>C	19.37:g.37369032G>C	ENSP00000431202:p.Ala434Pro	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	101	56	0.554455	NM_001242476		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340040	0.24339	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.14391	2.51;2.51	3.0	-0.576	0.11731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	M	0.64260	1.97	0.09310	N	1	B	0.26041	0.14	B	0.29663	0.105	T	0.35549	-0.9784	9	0.72032	D	0.01	.	3.2328	0.06754	0.3529:0.0:0.4485:0.1985	.	434	Q14585	ZN345_HUMAN	P	434;434;198	ENSP00000431216:A434P;ENSP00000431202:A434P	ENSP00000442320:A198P	A	+	1	0	ZNF345	42060872	0.000000	0.05858	0.250000	0.24296	0.522000	0.34438	-1.705000	0.01896	-0.091000	0.12440	0.655000	0.94253	GCT	.	.	none		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			C	37369032	G	C	37369032	3	2	23	1	0	0	0	0	1	0	0	0	17856	1203	42	4	1302	4	ZNF345	19	37369032	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	497	37369032	21759951	4319	20775										
ZNF781	163115	hgsc.bcm.edu	37	chr19	38160565	38160565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagtgtgaattctctgatgCtgaataagagttgagcgatt	11	6	1	5	rs113316386	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38160565C>T	ENST00000590008.1	-	5	1337	c.485G>A	c.(484-486)aGc>aAc	p.S162N	ZNF781_ENST00000358582.4_Missense_Mutation_p.S162N|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	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)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTCTCTGATGCTGAATAAGAG	0.378													C|||	48	0.00958466	0.0008	0.0144	5008	,	,		21916	0.0		0.0358	False		,,,				2504	0.001				p.S162N		Atlas-SNP	.											.	ZNF781	66	.	0			c.G485A						PASS	.	C	ASN/SER	37,4369	41.6+/-74.8	0,37,2166	109	107	108		485	-2	0	19	dbSNP_132	108	299,8301	109.2+/-169.8	5,289,4006	yes	missense	ZNF781	NM_152605.3	46	5,326,6172	TT,TC,CC		3.4767,0.8398,2.5834	benign	162/328	38160565	336,12670	2203	4300	6503	SO:0001583	missense	163115	exon4			CTGATGCTGAATA	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.485G>A	19.37:g.38160565C>T	ENSP00000466370:p.Ser162Asn	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	79	40	0.506329	NM_152605	Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	36	0.016483516483516484	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	27	0.03562005277044855	C	0.010	-1.792237	0.00623	0.008398	0.034767	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07021	3.23	1.74	-1.98	0.07480	.	.	.	.	.	T	0.00580	0.0019	N	0.01809	-0.71	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	9	0.30078	T	0.28	10.144	3.4274	0.07416	0.0:0.3161:0.2144:0.4694	.	162	Q8N8C0	ZN781_HUMAN	N	162	ENSP00000351391:S162N	ENSP00000351391:S162N	S	-	2	0	ZNF781	42852405	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.038000	0.00157	-0.482000	0.06782	-0.474000	0.04947	AGC	C|0.977;T|0.023	0.023	strong		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		T	38160565	C	T	38160565	3	4	23	1	0	0	0	0	1	0	0	0	18151	797	28	2	502	2	ZNF781	19	38160565	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	791533	38160565	20968418	4320	20776										
ZNF607	84775	hgsc.bcm.edu	37	chr19	38189555	38189555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgaactctgcgatgtatagTgagtttatggctataactaa	9	5	1	2	rs61910733	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38189555T>C	ENST00000355202.4	-	5	2072	c.1477A>G	c.(1477-1479)Act>Gct	p.T493A	ZNF607_ENST00000395835.3_Missense_Mutation_p.T492A|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGATGTATAGTGAGTTTATGG	0.393													T|||	25	0.00499201	0.0	0.0115	5008	,	,		21521	0.0		0.0119	False		,,,				2504	0.0051				p.T493A		Atlas-SNP	.											ZNF607,bladder,carcinoma,+1,1	ZNF607	82	1	0			c.A1477G						PASS	.	T	ALA/THR,ALA/THR	9,4397	16.8+/-37.8	0,9,2194	103	100	101		1474,1477	1.3	0	19	dbSNP_129	101	123,8477	64.2+/-126.4	0,123,4177	yes	missense,missense	ZNF607	NM_001172677.1,NM_032689.4	58,58	0,132,6371	CC,CT,TT		1.4302,0.2043,1.0149	possibly-damaging,possibly-damaging	492/696,493/697	38189555	132,12874	2203	4300	6503	SO:0001583	missense	84775	exon5			GTATAGTGAGTTT	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1477A>G	19.37:g.38189555T>C	ENSP00000347338:p.Thr493Ala	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	116	49	0.422414	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	14	0.00641025641025641	0	0.0	3	0.008287292817679558	0	0.0	11	0.014511873350923483	T	0.022	-1.408887	0.01155	0.002043	0.014302	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.35421	1.31;1.31	2.38	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	N	0.25380	0.74	0.09310	N	1	B;B	0.28350	0.0;0.208	B;B	0.29663	0.001;0.105	T	0.22173	-1.0224	9	0.12103	T	0.63	.	3.5898	0.07985	0.0:0.4651:0.0:0.5349	.	493;492	Q96SK3;F5H141	ZN607_HUMAN;.	A	493;492	ENSP00000347338:T493A;ENSP00000438015:T492A	ENSP00000347338:T493A	T	-	1	0	ZNF607	42881395	0.000000	0.05858	0.008000	0.14137	0.966000	0.64601	-0.066000	0.11598	1.086000	0.41228	0.459000	0.35465	ACT	T|0.992;C|0.008	0.008	strong		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		C	38189555	T	C	38189555	3	2	23	1	0	0	0	0	1	0	0	0	18030	1696	59	2	617	2	ZNF607	19	38189555	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	28990	38189555	20939428	4321	20777										
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38610504	38610504	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgtggaggacataagggaGatagtgcagagactgaaggt	16	4	1	3	rs59185302	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38610504G>A	ENST00000222345.6	+	9	3359	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	950					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACATAAGGGAGATAGTGCAGA	0.532													G|||	711	0.141973	0.2224	0.1455	5008	,	,		19812	0.0893		0.1342	False		,,,				2504	0.093				p.E950E		Atlas-SNP	.											.	SIPA1L3	150	.	0			c.G2850A						PASS	.	G		783,3621		85,613,1504	25	27	26		2850	-5.9	0.4	19	dbSNP_129	26	1113,7485		87,939,3273	no	coding-synonymous	SIPA1L3	NM_015073.1		172,1552,4777	AA,AG,GG		12.9449,17.7793,14.5824		950/1782	38610504	1896,11106	2202	4299	6501	SO:0001819	synonymous_variant	23094	exon9			AAGGGAGATAGTG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2850G>A	19.37:g.38610504G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	34	34	1	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			G|0.866;A|0.134	0.134	strong		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38610504	G	A	38610504	2	1	23	1	0	0	0	0	0	0	0	1	14331	933	33	2		2	SIPA1L3	19	38610504	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	420949	38610504	20518479	4322	20778										
C19orf33	64073	hgsc.bcm.edu	37	chr19	38795547	38795549	+	In_Frame_Del	DEL	GAA	GAA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggccaagaagcccaaagtGaagaagaaggagaagggcaa					rs139805446	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38795547_38795549delGAA	ENST00000301246.5	+	4	365_367	c.264_266delGAA	c.(262-267)gtgaag>gtg	p.K91del	C19orf33_ENST00000588605.1_3'UTR|CTB-102L5.4_ENST00000591889.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	91						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCCCAAAGTgaagaagaaggag	0.596														771	0.153954	0.0386	0.2349	5008	,	,		18940	0.1478		0.1839	False		,,,				2504	0.228				p.88_89del		Pindel,Atlas-Indel	.											.	C19orf33	9	.	0			c.263_265del						PASS	.		,,,,,,,	367,3897		16,335,1781					,,,,,,,	0.9	0.4		dbSNP_130	84	1288,6966		99,1090,2938	no	utr-3,coding,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	C19orf33,YIF1B	NM_033557.3,NM_033520.1,NM_001145463.1,NM_001145462.1,NM_001145461.1,NM_001039673.2,NM_001039672.2,NM_001039671.2	,,,,,,,	115,1425,4719	A1A1,A1R,RR		15.6046,8.6069,13.221	,,,,,,,	,,,,,,,		1655,10863				SO:0001651	inframe_deletion	64073	exon4			.	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"immortalization-upregulated protein", "HAI-2 related small protein", "hepatocyte growth factor activator inhibitor type 2-related small protein"					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.264_266delGAA	19.37:g.38795553_38795555delGAA	ENSP00000301246:p.Lys91del	Somatic	321	.	.		WXS	Illumina HiSeq	Phase_I	266	65	0.244	NM_033520	Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	CCDS12511.1																																																																																			GAA|0.847;-|0.153	0.153	strong		0.596	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		-	38795549	GAA	-	38795547	7	5	23	1	0	1	0	1	0	0	0	0	1919	1277	45	0	278	0	C19orf33	19	38795547	In_Frame_Del	DEL	GAA	TCGA-GR-7353-01A-11D-2210-10	185043	38795547	20333436	4323	20779										
YIF1B	90522	hgsc.bcm.edu	37	chr19	38798086	38798086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accatgaacacaaagatggcTacgcagcaccagcccagcac	8	15	0	2	rs3178327	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38798086T>C	ENST00000339413.6	-	7	816	c.771A>G	c.(769-771)gtA>gtG	p.V257V	YIF1B_ENST00000592694.1_Silent_p.V226V|YIF1B_ENST00000337679.8_Silent_p.V254V|YIF1B_ENST00000591784.1_Silent_p.V226V|YIF1B_ENST00000591755.1_Silent_p.V254V|YIF1B_ENST00000329420.8_Silent_p.V242V|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000392124.3_Silent_p.V226V|YIF1B_ENST00000592246.1_Silent_p.V191V	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	257						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAAAGATGGCTACGCAGCACC	0.622													C|||	1876	0.374601	0.1581	0.4712	5008	,	,		17154	0.5823		0.326	False		,,,				2504	0.4346				p.V257V		Atlas-SNP	.											YIF1B_ENST00000339413,NS,carcinoma,-2,3	YIF1B	47	3	0			c.A771G						PASS	.	C	,,,,,,	819,3587	744.1+/-411.5	72,675,1456	84	74	77		726,771,762,720,678,762,678	2.3	0.4	19	dbSNP_105	77	2373,6227	699.3+/-405.1	316,1741,2243	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	YIF1B	NM_001039671.2,NM_001039672.2,NM_001039673.2,NM_001145461.1,NM_001145462.1,NM_001145463.1,NM_033557.3	,,,,,,	388,2416,3699	CC,CT,TT		27.593,18.5883,24.5425	,,,,,,	242/300,257/315,254/312,240/298,226/284,254/292,226/284	38798086	3192,9814	2203	4300	6503	SO:0001819	synonymous_variant	90522	exon7			GATGGCTACGCAG	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.771A>G	19.37:g.38798086T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	117	67	0.57265	NM_001039672	H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Silent	SNP	ENST00000339413.6	37	CCDS33010.1																																																																																			T|0.699;C|0.301	0.301	strong		0.622	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		C	38798086	T	C	38798086	2	2	23	1	0	0	0	0	0	0	0	1	17473	1509	53	3		3	YIF1B	19	38798086	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2539	38798086	20330897	4324	20780										
YIF1B	90522	hgsc.bcm.edu	37	chr19	38800165	38800165	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaggctgcaggataactCaggccaccaggtgcccgctg	15	12	1	1	rs3900981	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38800165C>T	ENST00000339413.6	-	2	222	c.177G>A	c.(175-177)ctG>ctA	p.L59L	YIF1B_ENST00000592694.1_Silent_p.L28L|YIF1B_ENST00000337679.8_Silent_p.L56L|YIF1B_ENST00000591784.1_Silent_p.L28L|YIF1B_ENST00000591755.1_Silent_p.L56L|YIF1B_ENST00000329420.8_Silent_p.L44L|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000392124.3_Silent_p.L28L|YIF1B_ENST00000592246.1_Silent_p.L28L	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	59						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGATAACTCAGGCCACCAG	0.672													T|||	1112	0.222045	0.1407	0.3213	5008	,	,		14481	0.2331		0.2296	False		,,,				2504	0.2423				p.L59L		Atlas-SNP	.											.	YIF1B	47	.	0			c.G177A						PASS	.	T	,,,,,,	723,3679		50,623,1528	26	30	28		132,177,168,126,84,168,84	1	1	19	dbSNP_108	28	1697,6897		156,1385,2756	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	YIF1B	NM_001039671.2,NM_001039672.2,NM_001039673.2,NM_001145461.1,NM_001145462.1,NM_001145463.1,NM_033557.3	,,,,,,	206,2008,4284	TT,TC,CC		19.7463,16.4244,18.6211	,,,,,,	44/300,59/315,56/312,42/298,28/284,56/292,28/284	38800165	2420,10576	2201	4297	6498	SO:0001819	synonymous_variant	90522	exon2			ATAACTCAGGCCA	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.177G>A	19.37:g.38800165C>T		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	182	78	0.428571	NM_001039672	H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Silent	SNP	ENST00000339413.6	37	CCDS33010.1																																																																																			C|0.803;T|0.197	0.197	strong		0.672	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		T	38800165	C	T	38800165	2	4	23	1	0	0	0	0	0	0	0	1	17473	813	29	2		2	YIF1B	19	38800165	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2079	38800165	20328818	4325	20781										
KCNK6	9424	hgsc.bcm.edu	37	chr19	38817486	38817486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggtgccggctgtgatcttTgcccacctcgaggaggcctg	14	13	1	1	rs3745951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38817486T>C	ENST00000263372.3	+	2	683	c.576T>C	c.(574-576)ttT>ttC	p.F192F		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	192					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGTGATCTTTGCCCACCTCG	0.652													C|||	896	0.178914	0.0673	0.2507	5008	,	,		16393	0.1518		0.2217	False		,,,				2504	0.2628				p.F192F		Atlas-SNP	.											.	KCNK6	37	.	0			c.T576C						PASS	.	C		389,4017	791.1+/-415.1	28,333,1842	144	138	140		576	-3.4	0	19	dbSNP_107	140	1603,6997	742.8+/-407.2	149,1305,2846	no	coding-synonymous	KCNK6	NM_004823.1		177,1638,4688	CC,CT,TT		18.6395,8.8289,15.316		192/314	38817486	1992,11014	2203	4300	6503	SO:0001819	synonymous_variant	9424	exon2			GATCTTTGCCCAC	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.576T>C	19.37:g.38817486T>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	53	31	0.584906	NM_004823	Q9HB47	Silent	SNP	ENST00000263372.3	37	CCDS12513.1																																																																																			T|0.836;C|0.164	0.164	strong		0.652	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		C	38817486	T	C	38817486	2	2	23	1	0	0	0	0	0	0	0	1	8070	1809	63	2		2	KCNK6	19	38817486	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	17321	38817486	20311497	4326	20782										
KCNK6	9424	hgsc.bcm.edu	37	chr19	38817876	38817876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctgcagaccttccgccacGtgtccgacctccacggcctc	9	19	0	1	rs34989303	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38817876G>A	ENST00000263372.3	+	3	882	c.775G>A	c.(775-777)Gtg>Atg	p.V259M		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	259			V -> M (in dbSNP:rs34989303).		negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTTCCGCCACGTGTCCGACCT	0.642													G|||	784	0.15655	0.0507	0.2378	5008	,	,		17801	0.1478		0.1829	False		,,,				2504	0.2239				p.V259M		Atlas-SNP	.											.	KCNK6	37	.	0			c.G775A						PASS	.	G	MET/VAL	327,4079	169.8+/-200.3	21,285,1897	74	57	63		775	0.6	0	19	dbSNP_126	63	1314,7286	255.5+/-280.4	101,1112,3087	yes	missense	KCNK6	NM_004823.1	21	122,1397,4984	AA,AG,GG		15.2791,7.4217,12.6173	benign	259/314	38817876	1641,11365	2203	4300	6503	SO:0001583	missense	9424	exon3			CGCCACGTGTCCG	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.775G>A	19.37:g.38817876G>A	ENSP00000263372:p.Val259Met	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	86	42	0.488372	NM_004823	Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	CCDS12513.1	335	0.1533882783882784	24	0.04878048780487805	88	0.2430939226519337	83	0.1451048951048951	140	0.18469656992084432	G	12.43	1.936680	0.34189	0.074217	0.152791	ENSG00000099337	ENST00000263372	T	0.24350	1.86	5.45	0.581	0.17407	.	0.265585	0.37053	N	0.002279	T	0.00012	0.0000	N	0.11560	0.145	0.58432	P	1.0000000000287557E-6	P	0.43231	0.801	B	0.43658	0.426	T	0.34179	-0.9839	9	0.49607	T	0.09	.	3.8911	0.09119	0.1517:0.1274:0.5898:0.1311	rs34989303	259	Q9Y257	KCNK6_HUMAN	M	259	ENSP00000263372:V259M	ENSP00000263372:V259M	V	+	1	0	KCNK6	43509716	0.003000	0.15002	0.003000	0.11579	0.589000	0.36550	-0.109000	0.10840	0.228000	0.21019	0.561000	0.74099	GTG	G|0.865;A|0.135	0.135	strong		0.642	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		A	38817876	G	A	38817876	3	1	23	1	0	0	0	0	1	0	0	0	8070	1145	40	1	785	1	KCNK6	19	38817876	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	390	38817876	20311107	4327	20783										
CATSPERG	57828	hgsc.bcm.edu	37	chr19	38827960	38827960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgggccctgctggcagtgcTcctggcgtcgtggaggctgt	18	11	0	0	rs2302182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38827960T>C	ENST00000409235.3	+	2	201	c.86T>C	c.(85-87)cTc>cCc	p.L29P	CATSPERG_ENST00000215069.4_Missense_Mutation_p.L45P|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L29P	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	29			L -> P (in dbSNP:rs2302182). {ECO:0000269|PubMed:17974005}.		cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGGCAGTGCTCCTGGCGTCG	0.622													t|||	751	0.14996	0.0348	0.2378	5008	,	,		16010	0.1339		0.1849	False		,,,				2504	0.2239				p.L29P		Atlas-SNP	.											.	CATSPERG	121	.	0			c.T86C						PASS	.		PRO/LEU	94,1290		4,86,602	132	118	122		86	3.3	0	19	dbSNP_100	122	494,2688		39,416,1136	yes	missense	CATSPERG	NM_021185.4	98	43,502,1738	CC,CT,TT		15.5248,6.7919,12.8778	probably-damaging	29/1160	38827960	588,3978	692	1591	2283	SO:0001583	missense	57828	exon2			CAGTGCTCCTGGC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.86T>C	19.37:g.38827960T>C	ENSP00000386962:p.Leu29Pro	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	34	0.472222	NM_021185	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	331	0.15155677655677655	17	0.034552845528455285	87	0.24033149171270718	85	0.1486013986013986	142	0.18733509234828497	t	14.33	2.502586	0.44455	0.067919	0.155248	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.3	3.3	0.37823	.	0.000000	0.32736	N	0.005711	T	0.00039	0.0001	L	0.56769	1.78	0.45427	P	0.001595000000000013	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05289	-1.0894	9	0.59425	D	0.04	-9.8134	8.3357	0.32213	0.0:0.0:0.0:1.0	rs2302182;rs52832791;rs2302182	29;29	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	P	29;29;29;45	ENSP00000387057:L29P;ENSP00000386962:L29P;ENSP00000386950:L29P;ENSP00000215069:L45P	ENSP00000215069:L45P	L	+	2	0	CATSPERG	43519800	0.190000	0.23276	0.025000	0.17156	0.004000	0.04260	1.135000	0.31454	1.760000	0.52011	0.370000	0.22315	CTC	T|0.855;C|0.145	0.145	strong		0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		C	38827960	T	C	38827960	3	2	23	1	0	0	0	0	1	0	0	0	2692	1551	54	3	88	3	CATSPERG	19	38827960	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10084	38827960	20301023	4328	20784										
CATSPERG	57828	hgsc.bcm.edu	37	chr19	38847431	38847431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacatcgcgggtgagtatacTctactgctgctggtggagag	14	8	1	2	rs2286475	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38847431T>C	ENST00000409235.3	+	11	1360	c.1245T>C	c.(1243-1245)acT>acC	p.T415T	CATSPERG_ENST00000215069.4_Silent_p.T408T|CATSPERG_ENST00000410018.1_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	415					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTGAGTATACTCTACTGCTGC	0.532													C|||	1648	0.329073	0.1573	0.3948	5008	,	,		19875	0.4544		0.2873	False		,,,				2504	0.4284				p.T415T		Atlas-SNP	.											.	CATSPERG	121	.	0			c.T1245C						PASS	.	C		779,3627	753.3+/-412.4	75,629,1499	204	184	191		1245	-8.2	0	19	dbSNP_100	191	2029,6571	720.5+/-406.3	239,1551,2510	no	coding-synonymous	CATSPERG	NM_021185.4		314,2180,4009	CC,CT,TT		23.593,17.6804,21.59		415/1160	38847431	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	57828	exon11			GTATACTCTACTG	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1245T>C	19.37:g.38847431T>C		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	220	96	0.436364	NM_021185	A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																			T|0.735;C|0.265	0.265	strong		0.532	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		C	38847431	T	C	38847431	2	2	23	1	0	0	0	0	0	0	0	1	2692	1538	54	3		3	CATSPERG	19	38847431	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	19471	38847431	20281552	4329	20785										
PSMD8	5714	hgsc.bcm.edu	37	chr19	38872778	38872778	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgagatcgctgggtgcatCgagaaggcctacgagaaaat	14	7	0	3	rs1131182	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38872778C>T	ENST00000215071.4	+	6	891	c.825C>T	c.(823-825)atC>atT	p.I275I	PSMD8_ENST00000592035.1_Silent_p.I108I|GGN_ENST00000591809.1_5'Flank|PSMD8_ENST00000602911.1_Silent_p.I212I	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGGTGCATCGAGAAGGCCT	0.542													C|||	318	0.0634984	0.0053	0.1657	5008	,	,		19668	0.0437		0.1014	False		,,,				2504	0.0511				p.I275I		Atlas-SNP	.											.	PSMD8	31	.	0			c.C825T						PASS	.	C		54,2600		0,54,1273	73	56	62		825	-5	0.9	19	dbSNP_86	62	419,4199		18,383,1908	no	coding-synonymous	PSMD8	NM_002812.4		18,437,3181	TT,TC,CC		9.0732,2.0347,6.5044		275/351	38872778	473,6799	1327	2309	3636	SO:0001819	synonymous_variant	5714	exon6			GTGCATCGAGAAG	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"Proteasome (prosome, macropain) subunits"	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.825C>T	19.37:g.38872778C>T		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	39	18	0.461538	NM_002812	B4DX18|Q6P1L7	Silent	SNP	ENST00000215071.4	37	CCDS12515.2																																																																																			C|0.918;T|0.082	0.082	strong		0.542	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		T	38872778	C	T	38872778	2	4	23	1	0	0	0	0	0	0	0	1	12704	874	31	1		1	PSMD8	19	38872778	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25347	38872778	20256205	4330	20786										
FAM98C	147965	hgsc.bcm.edu	37	chr19	38893856	38893856	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccaggacctgctggctctGgggtaaaagggtgtgcggtg	18	9	1	0	rs3745957	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:38893856G>C	ENST00000252530.5	+	1	82	c.63G>C	c.(61-63)ctG>ctC	p.L21L	FAM98C_ENST00000343358.7_Silent_p.L21L|FAM98C_ENST00000588262.1_Silent_p.L21L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	21										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCTGGCTCTGGGGTAAAAGG	0.701													G|||	654	0.130591	0.0227	0.1398	5008	,	,		10294	0.2857		0.0785	False		,,,				2504	0.1636				p.L21L		Atlas-SNP	.											.	FAM98C	39	.	0			c.G63C						PASS	.	G		104,4036		1,102,1967	14	21	19		63	-5.1	0.2	19	dbSNP_107	19	454,7934		9,436,3749	no	coding-synonymous	FAM98C	NM_174905.3		10,538,5716	CC,CG,GG		5.4125,2.5121,4.454		21/350	38893856	558,11970	2070	4194	6264	SO:0001819	synonymous_variant	147965	exon1			GGCTCTGGGGTAA		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.63G>C	19.37:g.38893856G>C		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	73	28	0.383562	NM_174905	A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	CCDS42562.1																																																																																			G|0.900;C|0.100	0.100	strong		0.701	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		C	38893856	G	C	38893856	2	2	23	1	0	0	0	0	0	0	0	1	5658	1335	47	4		4	FAM98C	19	38893856	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21078	38893856	20235127	4331	20787										
HNRNPL	3191	hgsc.bcm.edu	37	chr19	39331198	39331198	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttggggttgctgccagggtcAcctgtggagagagaaaacag	16	7	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:39331198A>T	ENST00000221419.5	-	7	1248	c.882T>A	c.(880-882)ggT>ggA	p.G294G	AC104534.3_ENST00000594769.1_5'Flank|HNRNPL_ENST00000600873.1_Splice_Site_p.G161G	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	294					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGCCAGGGTCACCTGTGGAGA	0.602																																					p.G294G		Atlas-SNP	.											.	HNRNPL	67	.	0			c.T882A						PASS	.						27	27	27					19																	39331198		2199	4299	6498	SO:0001630	splice_region_variant	3191	exon7			AGGGTCACCTGTG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.881-1T>A	19.37:g.39331198A>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	90	30	0.333333	NM_001533	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	CCDS33015.1																																																																																			.	.	none		0.602	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		Silent	T	39331198	A	T	39331198	5	4	23	1	0	0	0	0	0	0	1	0	7270	173	6	5	915	5	HNRNPL	19	39331198	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	437342	39331198	19797785	4332	20788										
NFKBIB	4793	hgsc.bcm.edu	37	chr19	39399416	39399416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcagccgcagccaaaccCggctgcctcccaccccagcc	8	22	0	0	rs17886215		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:39399416C>T	ENST00000313582.5	+	6	1049	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	339			R -> W (in dbSNP:rs17886215). {ECO:0000269|Ref.3}.		innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGCCAAACCCGGCTGCCTCC	0.547																																					p.R339W	Pancreas(165;1492 2005 6979 7739 34483)	Atlas-SNP	.											.	NFKBIB	23	.	0			c.C1015T						PASS	.	C	,TRP/ARG	0,4406		0,0,2203	81	89	87		,1015	0.3	0	19	dbSNP_124	87	3,8597	3.0+/-9.4	0,3,4297	yes	utr-3,missense	NFKBIB	NM_001001716.1,NM_002503.4	,101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,possibly-damaging	,339/357	39399416	3,13003	2203	4300	6503	SO:0001583	missense	4793	exon6			CAAACCCGGCTGC	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.1015C>T	19.37:g.39399416C>T	ENSP00000312988:p.Arg339Trp	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	127	58	0.456693	NM_002503	A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739866	0.30865	0.0	3.49E-4	ENSG00000104825	ENST00000313582	T	0.54675	0.56	5.08	0.314	0.15847	.	1.956000	0.02482	N	0.088598	T	0.36690	0.0976	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28650	-1.0037	10	0.56958	D	0.05	1.3469	2.9887	0.05977	0.1946:0.4876:0.0:0.3178	rs17886215;rs17886215	339	Q15653	IKBB_HUMAN	W	339	ENSP00000312988:R339W	ENSP00000312988:R339W	R	+	1	2	NFKBIB	44091256	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.182000	0.09726	0.293000	0.22520	0.655000	0.94253	CGG	C|0.998;T|0.002	0.002	strong		0.547	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		T	39399416	C	T	39399416	3	4	23	1	0	0	0	0	1	0	0	0	10378	643	23	1	1085	1	NFKBIB	19	39399416	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	68218	39399416	19729567	4333	20789										
PLEKHG2	64857	hgsc.bcm.edu	37	chr19	39905888	39905888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctatgtcagggacctccgCagcatcgtggaggtaaggcg	15	11	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:39905888C>T	ENST00000409794.3	+	3	1216	c.366C>T	c.(364-366)cgC>cgT	p.R122R	PLEKHG2_ENST00000425673.1_Silent_p.R122R|PLEKHG2_ENST00000409797.2_Silent_p.R122R|PLEKHG2_ENST00000378550.1_Silent_p.R122R|PLEKHG2_ENST00000458508.2_Silent_p.R63R	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	122	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGACCTCCGCAGCATCGTGG	0.647																																					p.R122R		Atlas-SNP	.											PLEKHG2_ENST00000409794,colon,carcinoma,+1,2	PLEKHG2	329	2	0			c.C366T						scavenged	.						37	34	35					19																	39905888		2198	4297	6495	SO:0001819	synonymous_variant	64857	exon3			CCTCCGCAGCATC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.366C>T	19.37:g.39905888C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	80	2	0.025	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909832	0.17833	.	.	ENSG00000090924	ENST00000205135	.	.	.	4.63	1.05	0.20165	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26710	-1.0095	4	.	.	.	.	2.4055	0.04412	0.187:0.4957:0.2082:0.1091	.	.	.	.	V	19	.	.	A	+	2	0	PLEKHG2	44597728	0.983000	0.35010	0.995000	0.50966	0.653000	0.38743	0.021000	0.13489	0.559000	0.29153	0.491000	0.48974	GCA	.	.	none		0.647	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		T	39905888	C	T	39905888	2	4	23	1	0	0	0	0	0	0	0	1	12069	697	25	2		2	PLEKHG2	19	39905888	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	506472	39905888	19223095	4334	20790										
LGALS14	56891	hgsc.bcm.edu	37	chr19	40196611	40196611	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctgtcagtaatgtgtgcCgcttctgggaaggacgtcca	14	9	2	0	rs35541195	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40196611C>T	ENST00000392052.3	+	2	238				LGALS14_ENST00000360675.3_Missense_Mutation_p.R22C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14						apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TAATGTGTGCCGCTTCTGGGA	0.493													C|||	252	0.0503195	0.0356	0.0648	5008	,	,		19968	0.0		0.1451	False		,,,				2504	0.0143				p.R22C		Atlas-SNP	.											.	LGALS14	38	.	0			c.C64T						PASS	.	C	,CYS/ARG	239,4167		9,221,1973	202	150	168		,64	-0.5	0	19	dbSNP_126	168	1098,7502		66,966,3268	yes	intron,missense	LGALS14	NM_020129.2,NM_203471.1	,180	75,1187,5241	TT,TC,CC		12.7674,5.4244,10.2799	,	,22/169	40196611	1337,11669	2203	4300	6503	SO:0001627	intron_variant	56891	exon2			GTGTGCCGCTTCT	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.16-626C>T	19.37:g.40196611C>T		Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	232	124	0.534483	NM_203471	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	CCDS46073.1	159	0.07280219780219781	26	0.052845528455284556	31	0.0856353591160221	0	0.0	102	0.1345646437994723	.	5.101	0.204247	0.09704	0.054244	0.127674	ENSG00000006659	ENST00000360675	T	0.09163	3.01	0.906	-0.462	0.12168	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.30937	0.301	B	0.04013	0.001	T	0.41910	-0.9482	8	0.56958	D	0.05	.	3.7318	0.08496	0.5522:0.4478:0.0:0.0	rs35541195;rs60146906	22	A8MPV8	.	C	22	ENSP00000353893:R22C	ENSP00000353893:R22C	R	+	1	0	LGALS14	44888451	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.305000	0.08188	-0.197000	0.10350	0.313000	0.20887	CGC	C|0.907;T|0.093	0.093	strong		0.493	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		T	40196611	C	T	40196611	1	4	23	0	1	0	0	0	0	0	0	0	8741	652	23	1		1	LGALS14	19	40196611	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	290723	40196611	18932372	4335	20791										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40363926	40363926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaccaggaggcgttggagatCtccagctgcattcttctcaa	10	11	3	1	rs3746013	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40363926C>G	ENST00000221347.6	-	31	14723	c.14716G>C	c.(14716-14718)Gat>Cat	p.D4906H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4906	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.		D -> H (in dbSNP:rs3746013). {ECO:0000269|PubMed:9182547}.			extracellular vesicular exosome (GO:0070062)		p.D4906H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTTGGAGATCTCCAGCTGCA	0.597													C|||	1444	0.288339	0.23	0.1614	5008	,	,		21074	0.5387		0.1998	False		,,,				2504	0.2904				p.D4906H		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	stomach(1)	c.G14716C						PASS	.	C	HIS/ASP	1012,3394	376.8+/-322.2	113,786,1304	95	77	83		14716	-1	0	19	dbSNP_107	83	1829,6771	327.7+/-318.0	189,1451,2660	yes	missense	FCGBP	NM_003890.2	81	302,2237,3964	GG,GC,CC		21.2674,22.9687,21.8438	probably-damaging	4906/5406	40363926	2841,10165	2203	4300	6503	SO:0001583	missense	8857	exon31			GGAGATCTCCAGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14716G>C	19.37:g.40363926C>G	ENSP00000221347:p.Asp4906His	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	180	89	0.494444	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	648	0.2967032967032967	109	0.22154471544715448	63	0.17403314917127072	321	0.5611888111888111	155	0.20448548812664907	C	9.033	0.987678	0.18966	0.229687	0.212674	ENSG00000090920	ENST00000221347	T	0.59502	0.26	5.34	-1.04	0.10068	von Willebrand factor, type D domain (3);	0.249576	0.34046	U	0.004304	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	D	0.69078	0.997	D	0.74674	0.984	T	0.45571	-0.9252	9	0.14656	T	0.56	.	6.206	0.20604	0.0:0.5518:0.2287:0.2194	rs3746013;rs61020961;rs3746013	4906	Q9Y6R7	FCGBP_HUMAN	H	4906	ENSP00000221347:D4906H	ENSP00000221347:D4906H	D	-	1	0	FCGBP	45055766	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.392000	0.20801	-0.030000	0.13804	0.313000	0.20887	GAT	C|0.746;G|0.254	0.254	strong		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40363926	C	G	40363926	3	3	23	1	0	0	0	0	1	0	0	0	5778	913	32	4	1525	4	FCGBP	19	40363926	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	167315	40363926	18765057	4336	20792										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40368330	40368330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacctgtgcccgccagtcttCgatgacaaccccagcggcct	9	17	1	1	rs74540349	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40368330C>T	ENST00000221347.6	-	28	13025	c.13018G>A	c.(13018-13020)Gaa>Aaa	p.E4340K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4340						extracellular vesicular exosome (GO:0070062)		p.E4340K(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCAGTCTTCGATGACAACC	0.642																																					p.E4340K		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	stomach(1)	c.G13018A						scavenged	.						130	140	136					19																	40368330		2203	4300	6503	SO:0001583	missense	8857	exon28			AGTCTTCGATGAC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13018G>A	19.37:g.40368330C>T	ENSP00000221347:p.Glu4340Lys	Somatic	190	2	0.0105263		WXS	Illumina HiSeq	Phase_I	170	28	0.164706	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	478	0.21886446886446886	101	0.20528455284552846	56	0.15469613259668508	196	0.34265734265734266	125	0.16490765171503957	C	6.598	0.478746	0.12521	.	.	ENSG00000090920	ENST00000221347	D	0.85955	-2.05	4.08	-8.16	0.01061	Uncharacterised domain, cysteine-rich (2);	1.549620	0.03830	N	0.268942	T	0.00012	0.0000	N	0.03084	-0.415	0.80722	P	0.0	B	0.12013	0.005	B	0.04013	0.001	T	0.03259	-1.1055	9	0.12766	T	0.61	.	2.0488	0.03566	0.1461:0.4649:0.1867:0.2022	.	4340	Q9Y6R7	FCGBP_HUMAN	K	4340	ENSP00000221347:E4340K	ENSP00000221347:E4340K	E	-	1	0	FCGBP	45060170	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-7.283000	0.00040	-1.584000	0.01636	0.305000	0.20034	GAA	C|0.827;T|0.173	0.173	strong		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368330	C	T	40368330	3	4	23	1	0	0	0	0	1	0	0	0	5778	893	31	1	3235	1	FCGBP	19	40368330	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4404	40368330	18760653	4337	20793										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40392182	40392182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagctcgtagtgactgttcTgagggcattccatggctgca	13	9	1	3	rs202122337	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40392182T>G	ENST00000221347.6	-	17	8211	c.8204A>C	c.(8203-8205)cAg>cCg	p.Q2735P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2735	Cys-rich.|TIL 6.					extracellular vesicular exosome (GO:0070062)		p.Q2735P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGACTGTTCTGAGGGCATTC	0.652																																					p.Q2735P		Atlas-SNP	.											FCGBP,NS,other,0,1	FCGBP	416	1	1	Substitution - Missense(1)	pancreas(1)	c.A8204C						scavenged	.																																			SO:0001583	missense	8857	exon17			CTGTTCTGAGGGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8204A>C	19.37:g.40392182T>G	ENSP00000221347:p.Gln2735Pro	Somatic	558	15	0.0268817		WXS	Illumina HiSeq	Phase_I	728	28	0.0384615	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0.025	-1.376540	0.01214	.	.	ENSG00000090920	ENST00000221347	D	0.89939	-2.59	2.66	0.187	0.15109	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.660669	0.14170	N	0.336777	T	0.55513	0.1925	N	0.00074	-2.255	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.59731	-0.7399	10	0.21540	T	0.41	.	5.3628	0.16098	0.1062:0.0:0.5459:0.3479	.	2735	Q9Y6R7	FCGBP_HUMAN	P	2735	ENSP00000221347:Q2735P	ENSP00000221347:Q2735P	Q	-	2	0	FCGBP	45084022	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.030000	0.13688	-0.290000	0.09025	-2.537000	0.00180	CAG	T|0.985;G|0.015	0.015	strong		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40392182	T	G	40392182	3	3	23	1	0	0	0	0	1	0	0	0	5778	1580	55	5	8093	5	FCGBP	19	40392182	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23852	40392182	18736801	4338	20794										
MAP3K10	4294	hgsc.bcm.edu	37	chr19	40711892	40711892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggaggagcagctgcggcgGcgggagcaggagctggcaga	21	9	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40711892G>A	ENST00000253055.3	+	5	1551	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	421	Leucine-zipper 2.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGCTGCGGCGGCGGGAGCAGG	0.687																																					p.R421R		Atlas-SNP	.											MAP3K10,right_upper_lobe,carcinoma,+1,1	MAP3K10	70	1	0			c.G1263A						scavenged	.						18	20	19					19																	40711892		2198	4294	6492	SO:0001819	synonymous_variant	4294	exon5			GCGGCGGCGGGAG	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1263G>A	19.37:g.40711892G>A		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	126	2	0.015873	NM_002446	Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																			.	.	none		0.687	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		A	40711892	G	A	40711892	2	1	23	1	0	0	0	0	0	0	0	1	9244	1190	42	2		2	MAP3K10	19	40711892	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	319710	40711892	18417091	4339	20795										
MAP3K10	4294	hgsc.bcm.edu	37	chr19	40712040	40712040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctcaagctgcgggaaggcGgcagccacatcagcctgccc	13	15	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40712040G>A	ENST00000253055.3	+	5	1699	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	471				G -> S (in Ref. 2; CAA88531). {ECO:0000305}.|LKLREGGSHISLPSGF -> AQAAGRRQPHQPALWL (in Ref. 3). {ECO:0000305}.	activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.G471C(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCGGGAAGGCGGCAGCCACAT	0.657																																					p.G471S		Atlas-SNP	.											.	MAP3K10	70	.	1	Substitution - Missense(1)	lung(1)	c.G1411A						PASS	.						16	19	18					19																	40712040		2094	4126	6220	SO:0001583	missense	4294	exon5			GAAGGCGGCAGCC	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1411G>A	19.37:g.40712040G>A	ENSP00000253055:p.Gly471Ser	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	144	80	0.555556	NM_002446	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649911	0.47362	.	.	ENSG00000130758	ENST00000253055	T	0.73469	-0.75	4.53	-1.14	0.09741	.	0.279022	0.41097	N	0.000942	T	0.56790	0.2009	L	0.28192	0.835	0.31735	N	0.636552	B	0.15930	0.015	B	0.21917	0.037	T	0.51568	-0.8689	10	0.41790	T	0.15	.	8.6882	0.34251	0.5148:0.0:0.4852:0.0	.	471	Q02779	M3K10_HUMAN	S	471	ENSP00000253055:G471S	ENSP00000253055:G471S	G	+	1	0	MAP3K10	45403880	0.376000	0.25098	0.585000	0.28666	0.988000	0.76386	-0.143000	0.10296	-0.078000	0.12730	0.491000	0.48974	GGC	.	.	none		0.657	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		A	40712040	G	A	40712040	3	1	23	1	0	0	0	0	1	0	0	0	9244	1116	39	1	1429	1	MAP3K10	19	40712040	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	148	40712040	18416943	4340	20796										
MAP3K10	4294	hgsc.bcm.edu	37	chr19	40719076	40719076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacccatcgcccctggcttTgccagcctcaatgagatggg	10	15	1	1	rs1129156	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40719076T>C	ENST00000253055.3	+	8	2106	c.1818T>C	c.(1816-1818)ttT>ttC	p.F606F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	606					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCTGGCTTTGCCAGCCTCA	0.622													C|||	3792	0.757188	0.8011	0.7421	5008	,	,		17049	0.6974		0.7505	False		,,,				2504	0.7771				p.F606F		Atlas-SNP	.											MAP3K10,NS,carcinoma,0,1	MAP3K10	70	1	0			c.T1818C						PASS	.	C		3532,864		1441,650,107	23	22	22		1818	0.5	1	19	dbSNP_86	22	6225,2359		2286,1653,353	no	coding-synonymous	MAP3K10	NM_002446.3		3727,2303,460	CC,CT,TT		27.4814,19.6542,24.8305		606/955	40719076	9757,3223	2198	4292	6490	SO:0001819	synonymous_variant	4294	exon8			TGGCTTTGCCAGC	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1818T>C	19.37:g.40719076T>C		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	46	25	0.543478	NM_002446	Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																			T|0.250;C|0.750	0.750	strong		0.622	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		C	40719076	T	C	40719076	2	2	23	1	0	0	0	0	0	0	0	1	9244	1809	63	2		2	MAP3K10	19	40719076	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7036	40719076	18409907	4341	20797										
PRX	57716	hgsc.bcm.edu	37	chr19	40909695	40909695	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctctttgccgccgcccgcTacgttgatgccgctgacccc	9	20	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:40909695T>G	ENST00000324001.7	-	5	372	c.102A>C	c.(100-102)gtA>gtC	p.V34V	PRX_ENST00000291825.7_Silent_p.V34V	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	34	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCCGCCCGCTACGTTGATGC	0.692																																					p.V34V		Atlas-SNP	.											.	PRX	151	.	0			c.A102C						PASS	.						15	14	14					19																	40909695		2193	4294	6487	SO:0001819	synonymous_variant	57716	exon5			GCCCGCTACGTTG	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.102A>C	19.37:g.40909695T>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	116	56	0.482759	NM_181882	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																			.	.	none		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		G	40909695	T	G	40909695	2	3	23	1	0	0	0	0	0	0	0	1	12642	1509	53	5		5	PRX	19	40909695	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	190619	40909695	18219288	4342	20798										
SPTBN4	57731	hgsc.bcm.edu	37	chr19	41008049	41008049	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcaggtcttggaccaggtAttggaggtggggaagatcat	16	5	3	1	rs814526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41008049A>G	ENST00000352632.3	+	9	998	c.912A>G	c.(910-912)gtA>gtG	p.V304V	SPTBN4_ENST00000344104.3_Silent_p.V304V|SPTBN4_ENST00000595535.1_Silent_p.V304V|SPTBN4_ENST00000338932.3_Silent_p.V304V|SPTBN4_ENST00000598249.1_Silent_p.V304V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	304					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGACCAGGTATTGGAGGTGG	0.602													G|||	1891	0.377596	0.6596	0.2507	5008	,	,		17749	0.1766		0.3598	False		,,,				2504	0.3119				p.V304V		Atlas-SNP	.											.	SPTBN4	213	.	0			c.A912G						PASS	.	G		2696,1710	514.4+/-368.6	815,1066,322	67	64	65		912	0.9	0.9	19	dbSNP_86	65	3140,5460	655.9+/-401.3	554,2032,1714	no	coding-synonymous	SPTBN4	NM_020971.2		1369,3098,2036	GG,GA,AA		36.5116,38.8107,44.8716		304/2565	41008049	5836,7170	2203	4300	6503	SO:0001819	synonymous_variant	57731	exon9			CCAGGTATTGGAG	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.912A>G	19.37:g.41008049A>G		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	61	36	0.590164	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			A|0.581;G|0.419	0.419	strong		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			G	41008049	A	G	41008049	2	3	23	1	0	0	0	0	0	0	0	1	15120	436	16	2		2	SPTBN4	19	41008049	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	98354	41008049	18120934	4343	20799										
SHKBP1	92799	hgsc.bcm.edu	37	chr19	41096189	41096189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggacggctcacccacgacAgccttcacagtgctggagtg	13	13	2	0	rs396118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41096189A>G	ENST00000291842.5	+	16	1678	c.1629A>G	c.(1627-1629)acA>acG	p.T543T	LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.T518T|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	543					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCCACGACAGCCTTCACAG	0.701													g|||	2894	0.577875	0.8222	0.5	5008	,	,		15016	0.4107		0.501	False		,,,				2504	0.5542				p.T543T		Atlas-SNP	.											SHKBP1,NS,carcinoma,0,2	SHKBP1	68	2	0			c.A1629G						PASS	.			3392,1004		1322,748,128	18	20	19		1629	-5.4	0.8	19	dbSNP_80	19	4266,4324		1080,2106,1109	no	coding-synonymous	SHKBP1	NM_138392.3		2402,2854,1237	GG,GA,AA		49.6624,22.8389,41.0288		543/708	41096189	7658,5328	2198	4295	6493	SO:0001819	synonymous_variant	92799	exon16			CACGACAGCCTTC	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1629A>G	19.37:g.41096189A>G		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	43	41	0.953488	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	CCDS12560.1																																																																																			A|0.421;G|0.579	0.579	strong		0.701	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		G	41096189	A	G	41096189	2	3	23	1	0	0	0	0	0	0	0	1	14284	175	7	3		3	SHKBP1	19	41096189	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	88140	41096189	18032794	4344	20800										
ADCK4	79934	hgsc.bcm.edu	37	chr19	41220529	41220529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaagtaggccccccaccttCagccacattgcctggaggag	11	15	1	0	rs11673492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41220529C>T	ENST00000324464.3	-	2	310	c.9G>A	c.(7-9)ctG>ctA	p.L3L	ADCK4_ENST00000450541.1_Silent_p.L3L|ITPKC_ENST00000263370.2_5'Flank|ADCK4_ENST00000243583.6_Silent_p.L3L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	3						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCCCACCTTCAGCCACATTG	0.637													C|||	497	0.0992412	0.1324	0.0922	5008	,	,		12878	0.003		0.1978	False		,,,				2504	0.0573				p.L3L		Atlas-SNP	.											.	ADCK4	92	.	0			c.G9A						PASS	.	C	,	572,3834		42,488,1673	30	35	33		9,9	2.4	0.9	19	dbSNP_120	33	1656,6932		171,1314,2809	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	213,1802,4482	TT,TC,CC		19.2827,12.9823,17.1464	,	3/504,3/545	41220529	2228,10766	2203	4294	6497	SO:0001819	synonymous_variant	79934	exon2			CACCTTCAGCCAC	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.9G>A	19.37:g.41220529C>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	154	72	0.467532	NM_001142555	Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	CCDS12562.1																																																																																			C|0.854;T|0.146	0.146	strong		0.637	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		T	41220529	C	T	41220529	2	4	23	1	0	0	0	0	0	0	0	1	290	813	29	2		2	ADCK4	19	41220529	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	124340	41220529	17908454	4345	20801										
CYP2A6	1548	hgsc.bcm.edu	37	chr19	41354533	41354533	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcaccgccagtgccccggAgggcgtcgatgaggaagccc	15	15	1	1	rs1801272	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41354533A>T	ENST00000301141.5	-	3	499	c.479T>A	c.(478-480)cTc>cAc	p.L160H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	160			L -> H (in allele CYP2A6*2; unable to catalyze 7-hydroxylation of coumarin; causes switching from coumarin 7- hydroxylation to 3-hydroxylation; dbSNP:rs1801272). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2322567, ECO:0000269|PubMed:2748347, ECO:0000269|Ref.6}.		coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGTGCCCCGGAGGGCGTCGAT	0.701													.|||	46	0.0091853	0.0008	0.0072	5008	,	,		12445	0.0		0.0338	False		,,,				2504	0.0061				p.L160H		Atlas-SNP	.											.	CYP2A6	69	.	0			c.T479A	GRCh37	CM980517	CYP2A6	M	rs1801272	PASS	.	A	HIS/LEU	20,4386		0,20,2183	35	38	37	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	479	2.8	0	19	dbSNP_89	37	212,8386		5,202,4092	no	missense	CYP2A6	NM_000762.5	99	5,222,6275	TT,TA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	2.4657,0.4539,1.7841	benign	160/495	41354533	232,12772	2203	4299	6502	SO:0001583	missense	1548	exon3			CCCCGGAGGGCGT	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.479T>A	19.37:g.41354533A>T	ENSP00000301141:p.Leu160His	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	101	48	0.475248	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	28	0.01282051282051282	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	24	0.0316622691292876	-	15.37	2.814794	0.50527	0.004539	0.024657	ENSG00000255974	ENST00000301141	T	0.74632	-0.86	2.77	2.77	0.32553	.	0.336308	0.29676	U	0.011482	T	0.73908	0.3647	M	0.91406	3.205	0.09310	N	1	B	0.23937	0.094	P	0.52109	0.69	T	0.77640	-0.2512	10	0.87932	D	0	.	9.861	0.41114	1.0:0.0:0.0:0.0	rs1801272;rs4986890;rs17791931;rs56844942;rs1801272	160	P11509	CP2A6_HUMAN	H	160	ENSP00000301141:L160H	ENSP00000301141:L160H	L	-	2	0	CYP2A6	46046373	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.474000	0.35398	1.140000	0.42260	0.318000	0.21364	CTC	A|0.983;T|0.017	0.017	strong		0.701	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41354533	A	T	41354533	3	4	23	1	0	0	0	0	1	0	0	0	4162	304	11	5	1033	5	CYP2A6	19	41354533	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	134004	41354533	17774450	4346	20802										
CYP2A6	1548	hgsc.bcm.edu	37	chr19	41356246	41356246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggaggcagcttccccttgCtcttcctctgctgccaaaca	8	17	2	0	rs28399435	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41356246C>T	ENST00000301141.5	-	1	106	c.86G>A	c.(85-87)aGc>aAc	p.S29N	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	29			S -> N (in allele CYP2A6*14; dbSNP:rs28399435). {ECO:0000269|PubMed:15469410, ECO:0000269|PubMed:15618701, ECO:0000269|PubMed:2726448}.		coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTTCCCCTTGCTCTTCCTCTG	0.557													.|||	70	0.0139776	0.0023	0.0173	5008	,	,		17142	0.0		0.0328	False		,,,				2504	0.0225				p.S29N		Atlas-SNP	.											.	CYP2A6	69	.	0			c.G86A						PASS	.	C	ASN/SER	45,4361		2,41,2160	108	92	98		86	-3.7	0	19	dbSNP_125	98	350,8248		12,326,3961	no	missense	CYP2A6	NM_000762.5	46	14,367,6121	TT,TC,CC		4.0707,1.0213,3.0375	benign	29/495	41356246	395,12609	2203	4299	6502	SO:0001583	missense	1548	exon1			CCCTTGCTCTTCC	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.86G>A	19.37:g.41356246C>T	ENSP00000301141:p.Ser29Asn	Somatic	341	1	0.00293255		WXS	Illumina HiSeq	Phase_I	330	166	0.50303	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	34	0.015567765567765568	0	0.0	6	0.016574585635359115	0	0.0	28	0.036939313984168866	-	5.795	0.330971	0.10956	0.010213	0.040707	ENSG00000255974	ENST00000301141	T	0.69435	-0.4	2.86	-3.66	0.04489	.	1.227710	0.05870	U	0.624444	T	0.21427	0.0516	L	0.40543	1.245	0.09310	N	1	B	0.20671	0.047	B	0.27262	0.078	T	0.26677	-1.0096	10	0.22706	T	0.39	.	6.2921	0.21065	0.5064:0.3714:0.1222:0.0	rs28399435;rs57299031	29	P11509	CP2A6_HUMAN	N	29	ENSP00000301141:S29N	ENSP00000301141:S29N	S	-	2	0	CYP2A6	46048086	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-2.019000	0.01442	-0.197000	0.10350	0.173000	0.16961	AGC	C|0.975;T|0.025	0.025	strong		0.557	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41356246	C	T	41356246	3	4	23	1	0	0	0	0	1	0	0	0	4162	797	28	2	1434	2	CYP2A6	19	41356246	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1713	41356246	17772737	4347	20803										
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41383134	41383134	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaaacttggtgtcctttttAaccctgcgggccaaactcat					rs147847954	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41383134A>G	ENST00000301146.4	-	7	1663	c.1122T>C	c.(1120-1122)gtT>gtC	p.V374V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.V323V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	374						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGTCCTTTTTAACCCTGCGGG	0.537													.|||	60	0.0119808	0.0	0.0144	5008	,	,		18790	0.002		0.0457	False		,,,				2504	0.002				p.V374V		Atlas-SNP	.											.	CYP2A7	71	.	0			c.T1122C						PASS	.	A	,	24,4382	27.2+/-55.0	0,24,2179	102	90	94		1122,969	-2.4	0	19	dbSNP_134	94	294,8304	99.5+/-161.0	15,264,4020	no	coding-synonymous,coding-synonymous	CYP2A7	NM_000764.2,NM_030589.2	,	15,288,6199	GG,GA,AA		3.4194,0.5447,2.4454	,	374/495,323/444	41383134	318,12686	2203	4299	6502	SO:0001819	synonymous_variant	1549	exon7			CTTTTTAACCCTG	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1122T>C	19.37:g.41383134A>G		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	168	66	0.392857	NM_000764	Q13121	Silent	SNP	ENST00000301146.4	37	CCDS12569.1																																																																																			A|0.978;G|0.022	0.022	strong		0.537	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		G	41383134	A	G	41383134	2	3	23	1	0	0	0	0	0	0	0	1	4163	349	13	2		2	CYP2A7	19	41383134	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	26888	41383134	17745849	4348	20804	414	2								
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41383137	41383137	+	Silent	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacttggtgtcctttttaacCctgcgggccaaactcatggg					rs148915421	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41383137C>T	ENST00000301146.4	-	7	1660	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.R322R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	373						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTTTTTAACCCTGCGGGCCA	0.542													.|||	59	0.0117812	0.0	0.0144	5008	,	,		18858	0.002		0.0457	False		,,,				2504	0.001				p.R373R		Atlas-SNP	.											CYP2A7,NS,carcinoma,-1,1	CYP2A7	71	1	0			c.G1119A						scavenged	.	C	,	23,4383	28.1+/-56.4	0,23,2180	103	91	95		1119,966	-1.3	0	19	dbSNP_134	95	283,8315	98.8+/-160.4	14,255,4030	no	coding-synonymous,coding-synonymous	CYP2A7	NM_000764.2,NM_030589.2	,	14,278,6210	TT,TC,CC		3.2915,0.522,2.3531	,	373/495,322/444	41383137	306,12698	2203	4299	6502	SO:0001819	synonymous_variant	1549	exon7			TTTAACCCTGCGG	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1119G>A	19.37:g.41383137C>T		Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	173	67	0.387283	NM_000764	Q13121	Silent	SNP	ENST00000301146.4	37	CCDS12569.1																																																																																			C|0.978;T|0.022	0.022	strong		0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		T	41383137	C	T	41383137	2	4	23	1	0	0	0	0	0	0	0	1	4163	622	22	2		2	CYP2A7	19	41383137	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3	41383137	17745846	4349	20805	414	2								
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41622481	41622481	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagaggagtttagtggccGcggtgactaccctgcctttt	15	9	0	2	rs57670668	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41622481G>C	ENST00000331105.2	+	3	365	c.293G>C	c.(292-294)cGc>cCc	p.R98P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	98			R -> P (in allele CYP2F1*6; dbSNP:rs57670668).		naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTTAGTGGCCGCGGTGACTAC	0.587													G|||	25	0.00499201	0.003	0.0058	5008	,	,		18879	0.0		0.0149	False		,,,				2504	0.002				p.R98P		Atlas-SNP	.											.	CYP2F1	60	.	0			c.G293C						PASS	.	G	PRO/ARG	12,4394	17.9+/-39.9	0,12,2191	86	85	85		293	2.9	0.9	19	dbSNP_129	85	147,8453	70.3+/-132.9	0,147,4153	no	missense	CYP2F1	NM_000774.3	103	0,159,6344	CC,CG,GG		1.7093,0.2724,1.2225	probably-damaging	98/492	41622481	159,12847	2203	4300	6503	SO:0001583	missense	1572	exon3			GTGGCCGCGGTGA	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.293G>C	19.37:g.41622481G>C	ENSP00000333534:p.Arg98Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	104	52	0.5	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	14.36	2.512521	0.44660	0.002724	0.017093	ENSG00000197446	ENST00000331105	T	0.72167	-0.63	3.91	2.87	0.33458	.	0.207943	0.36200	U	0.002721	T	0.77432	0.4129	H	0.94698	3.57	0.51233	D	0.999912	D;D	0.63880	0.993;0.993	D;D	0.66979	0.948;0.914	D	0.84263	0.0484	10	0.87932	D	0	.	10.5264	0.44952	0.0996:0.0:0.9004:0.0	rs57670668;rs61736450	98;98	Q32MN5;P24903	.;CP2F1_HUMAN	P	98	ENSP00000333534:R98P	ENSP00000333534:R98P	R	+	2	0	CYP2F1	46314321	0.942000	0.31987	0.882000	0.34594	0.163000	0.22366	3.127000	0.50484	0.859000	0.35456	-0.282000	0.10007	CGC	G|0.992;C|0.008	0.008	strong		0.587	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			C	41622481	G	C	41622481	3	2	23	1	0	0	0	0	1	0	0	0	4171	1087	38	4	299	4	CYP2F1	19	41622481	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	239344	41622481	17506502	4350	20806										
CYP2F1	1572	hgsc.bcm.edu	37	chr19	41628014	41628014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccccgggacttcatccaGtgcttcctcaccaagatggc	8	16	3	1	rs75405062		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41628014G>C	ENST00000331105.2	+	6	870	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	266			Q -> H (in allele CYP2F1*3). {ECO:0000269|PubMed:11827709}.		naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACTTCATCCAGTGCTTCCTCA	0.572																																					p.Q266H		Atlas-SNP	.											CYP2F1,NS,carcinoma,+2,1	CYP2F1	60	1	0			c.G798C						scavenged	.	C	HIS/GLN	162,3888		1,160,1864	50	48	48		798	-4.7	0.4	19	dbSNP_132	48	113,8171		0,113,4029	no	missense	CYP2F1	NM_000774.3	24	1,273,5893	CC,CG,GG		1.3641,4.0,2.2296	benign	266/492	41628014	275,12059	2025	4142	6167	SO:0001583	missense	1572	exon6			CATCCAGTGCTTC	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.798G>C	19.37:g.41628014G>C	ENSP00000333534:p.Gln266His	Somatic	74	8	0.108108		WXS	Illumina HiSeq	Phase_I	67	12	0.179104	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	449	0.20558608058608058	107	0.21747967479674796	82	0.2265193370165746	109	0.19055944055944055	151	0.19920844327176782	N	5.932	0.355925	0.11239	0.04	0.013641	ENSG00000197446	ENST00000331105	T	0.12569	2.67	3.27	-4.65	0.03339	.	0.052380	0.64402	U	0.000001	T	0.00012	0.0000	N	0.02247	-0.625	0.51767	P	6.20000000000065E-5	D;B;B	0.64830	0.994;0.227;0.021	P;B;B	0.59595	0.86;0.017;0.007	T	0.42310	-0.9459	9	0.87932	D	0	.	8.662	0.34099	0.0:0.6997:0.1315:0.1688	.	52;266;266	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	H	266	ENSP00000333534:Q266H	ENSP00000333534:Q266H	Q	+	3	2	CYP2F1	46319854	0.006000	0.16342	0.412000	0.26496	0.011000	0.07611	0.096000	0.15147	-1.780000	0.01279	-2.252000	0.00282	CAG	G|0.250;C|0.750	0.750	weak		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			C	41628014	G	C	41628014	3	2	23	1	0	0	0	0	1	0	0	0	4171	1020	36	4	816	4	CYP2F1	19	41628014	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5533	41628014	17500969	4351	20807										
CYP2S1	29785	hgsc.bcm.edu	37	chr19	41712275	41712275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccttctccctggagagccCgtgcccgccggacaccctga	11	18	1	2	rs34971233	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41712275C>T	ENST00000310054.4	+	9	1613	c.1397C>T	c.(1396-1398)cCg>cTg	p.P466L	CYP2S1_ENST00000542619.1_Missense_Mutation_p.P191L	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	466			P -> L (in dbSNP:rs34971233).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGAGAGCCCGTGCCCGCCG	0.612													c|||	90	0.0179712	0.025	0.0216	5008	,	,		19108	0.0		0.0239	False		,,,				2504	0.0184				p.P466L		Atlas-SNP	.											.	CYP2S1	47	.	0			c.C1397T						PASS	.	C	LEU/PRO	102,4304	80.4+/-118.8	2,98,2103	129	125	126		1397	3.3	0	19	dbSNP_126	126	197,8403	85.8+/-148.2	3,191,4106	yes	missense	CYP2S1	NM_030622.6	98	5,289,6209	TT,TC,CC		2.2907,2.315,2.2989	possibly-damaging	466/505	41712275	299,12707	2203	4300	6503	SO:0001583	missense	29785	exon9			AGAGCCCGTGCCC	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1397C>T	19.37:g.41712275C>T	ENSP00000308032:p.Pro466Leu	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	96	49	0.510417	NM_030622	Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	CCDS12573.1	44	0.020146520146520148	15	0.03048780487804878	15	0.04143646408839779	0	0.0	14	0.018469656992084433	C	0.227	-1.023786	0.02061	0.02315	0.022907	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	T;T	0.71341	-0.56;-0.56	4.35	3.31	0.37934	.	0.203095	0.42172	D	0.000750	T	0.38983	0.1061	M	0.64080	1.96	0.09310	N	0.999997	D;D	0.76494	0.972;0.999	P;P	0.59595	0.585;0.86	T	0.57165	-0.7858	10	0.02654	T	1	.	5.3402	0.15979	0.1991:0.6965:0.0:0.1043	rs34971233;rs56763907	191;466	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	L	466;466;191	ENSP00000308032:P466L;ENSP00000445299:P191L	ENSP00000301173:P466L	P	+	2	0	CYP2S1	46404115	0.033000	0.19621	0.005000	0.12908	0.002000	0.02628	0.782000	0.26788	1.048000	0.40298	0.655000	0.94253	CCG	C|0.979;T|0.021	0.021	strong		0.612	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			T	41712275	C	T	41712275	3	4	23	1	0	0	0	0	1	0	0	0	4174	652	23	1	1431	1	CYP2S1	19	41712275	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	84261	41712275	17416708	4352	20808										
ATP5SL	55101	hgsc.bcm.edu	37	chr19	41944237	41944237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtccttttcttcttctgaTtgccctctggggccactgcc	8	14	4	1	rs2231940	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:41944237T>C	ENST00000221943.9	-	2	106	c.101A>G	c.(100-102)aAt>aGt	p.N34S	ATP5SL_ENST00000301183.11_Missense_Mutation_p.N40S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.N34S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.N40S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.N40S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.N34S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.N34S|ATP5SL_ENST00000597457.1_Missense_Mutation_p.N34S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.N34S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	34			N -> S (in dbSNP:rs2231940). {ECO:0000269|PubMed:14702039}.			mitochondrion (GO:0005739)		p.N34S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTTCTTCTGATTGCCCTCTGG	0.572													T|||	1930	0.385383	0.1604	0.5144	5008	,	,		19085	0.5635		0.4066	False		,,,				2504	0.3926				p.N40S		Atlas-SNP	.											ATP5SL,NS,carcinoma,0,1	ATP5SL	20	1	1	Substitution - Missense(1)	stomach(1)	c.A119G						PASS	.	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	949,3457	360.9+/-315.4	107,735,1361	131	117	122		119,119,101,101,101,101	-6.2	0	19	dbSNP_98	122	3409,5191	503.6+/-375.9	697,2015,1588	yes	missense,missense,missense,missense,missense,missense	ATP5SL	NM_001167867.1,NM_001167868.1,NM_001167869.1,NM_001167870.1,NM_001167871.1,NM_018035.2	46,46,46,46,46,46	804,2750,2949	CC,CT,TT		39.6395,21.5388,33.5076	benign,benign,benign,benign,benign,benign	40/264,40/192,34/186,34/159,34/231,34/258	41944237	4358,8648	2203	4300	6503	SO:0001583	missense	55101	exon2			TTCTGATTGCCCT	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.101A>G	19.37:g.41944237T>C	ENSP00000221943:p.Asn34Ser	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	164	78	0.47561	NM_001167867	B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	CCDS33032.1	865	0.39606227106227104	84	0.17073170731707318	157	0.43370165745856354	307	0.5367132867132867	317	0.4182058047493404	T	0.758	-0.770415	0.02974	0.215388	0.396395	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.24538	3.12;1.86;3.08;1.85	3.37	-6.19	0.02078	.	1.568770	0.04028	N	0.300879	T	0.00012	0.0000	N	0.05230	-0.09	0.80722	P	0.0	B;B;B;B;B;B;B	0.16603	0.018;0.015;0.015;0.015;0.01;0.001;0.005	B;B;B;B;B;B;B	0.16722	0.016;0.01;0.01;0.01;0.007;0.007;0.011	T	0.39702	-0.9601	9	0.07482	T	0.82	-25.6535	8.2286	0.31584	0.1416:0.5785:0.0:0.28	rs2231940;rs3182916;rs17318700;rs52816424;rs61271390;rs2231940	40;40;34;34;34;34;40	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	S	34;34;40;40;110	ENSP00000221943:N34S;ENSP00000397413:N34S;ENSP00000403910:N40S;ENSP00000301183:N40S	ENSP00000221943:N34S	N	-	2	0	ATP5SL	46636077	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-6.233000	0.00074	-1.890000	0.01111	-1.151000	0.01829	AAT	T|0.640;C|0.360	0.360	strong		0.572	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		C	41944237	T	C	41944237	3	2	23	1	0	0	0	0	1	0	0	0	1164	1493	52	2	692	2	ATP5SL	19	41944237	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	231962	41944237	17184746	4353	20809										
CEACAM6	4680	hgsc.bcm.edu	37	chr19	42260569	42260569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcactattgaatccacgccGttcaatgtcgcagaggggaa	10	11	2	2	rs1805223	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:42260569G>A	ENST00000199764.6	+	2	344	c.126G>A	c.(124-126)ccG>ccA	p.P42P	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	42	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P42P(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AATCCACGCCGTTCAATGTCG	0.527													g|||	1280	0.255591	0.1399	0.2911	5008	,	,		18831	0.2738		0.2873	False		,,,				2504	0.3354				p.P42P		Atlas-SNP	.											CEACAM6,NS,carcinoma,0,1	CEACAM6	52	1	1	Substitution - coding silent(1)	stomach(1)	c.G126A						PASS	.	G		745,3661	305.5+/-289.0	63,619,1521	170	156	161		126	-5.1	0	19	dbSNP_92	161	2502,6098	410.2+/-350.1	384,1734,2182	no	coding-synonymous	CEACAM6	NM_002483.4		447,2353,3703	AA,AG,GG		29.093,16.9088,24.9654		42/345	42260569	3247,9759	2203	4300	6503	SO:0001819	synonymous_variant	4680	exon2			CACGCCGTTCAAT	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.126G>A	19.37:g.42260569G>A		Somatic	229	1	0.00436681		WXS	Illumina HiSeq	Phase_I	239	129	0.539749	NM_002483	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																			.	.	weak		0.527	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			A	42260569	G	A	42260569	2	1	23	1	0	0	0	0	0	0	0	1	3196	1132	40	1		1	CEACAM6	19	42260569	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	316332	42260569	16868414	4354	20810										
PSG3	5671	hgsc.bcm.edu	37	chr19	43237016	43237016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attcatagggtcctgcagtgTactttgtgacaccaaataga	9	8	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43237016T>C	ENST00000327495.5	-	3	813	c.629A>G	c.(628-630)tAc>tGc	p.Y210C	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.Y210C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	210	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCTGCAGTGTACTTTGTGAC	0.502																																					p.Y210C		Atlas-SNP	.											PSG3,caecum,carcinoma,0,1	PSG3	82	1	0			c.A629G						scavenged	.						249	253	251					19																	43237016		2203	4300	6503	SO:0001583	missense	5671	exon3			GCAGTGTACTTTG		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.629A>G	19.37:g.43237016T>C	ENSP00000332215:p.Tyr210Cys	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	162	4	0.0246914	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	11.52	1.663604	0.29515	.	.	ENSG00000221826	ENST00000327495	T	0.12255	2.7	1.59	1.59	0.23543	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18383	0.0441	L	0.46157	1.445	0.09310	N	1	P;B	0.45827	0.867;0.015	P;B	0.51918	0.684;0.015	T	0.10753	-1.0616	9	0.72032	D	0.01	.	5.2153	0.15338	0.0:0.0:0.0:1.0	.	188;210	Q08266;Q16557	.;PSG3_HUMAN	C	210	ENSP00000332215:Y210C	ENSP00000332215:Y210C	Y	-	2	0	PSG3	47928856	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.819000	0.27308	0.725000	0.32318	0.324000	0.21423	TAC	.	.	none		0.502	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		C	43237016	T	C	43237016	3	2	23	1	0	0	0	0	1	0	0	0	12656	1638	57	2	673	2	PSG3	19	43237016	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	976447	43237016	15891967	4355	20811										
PSG8	440533	hgsc.bcm.edu	37	chr19	43269699	43269699	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagccccttccaggtgatgCgctgtgtgcagggaggggct					rs71337226|rs7260508	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43269699C>T	ENST00000306511.4	-	1	132	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.R12H|PSG8_ENST00000406636.3_Missense_Mutation_p.R12H	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	12				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGGTGATGCGCTGTGTGCA	0.592													.|||	1786	0.356629	0.7315	0.2709	5008	,	,		17382	0.0903		0.3091	False		,,,				2504	0.2342				p.R12H		Atlas-SNP	.											PSG8_ENST00000404209,NS,carcinoma,-1,2	PSG8	101	2	0			c.G35A						PASS	.	T	HIS/ARG,HIS/ARG,HIS/ARG	1977,1045		665,647,199	117	118	118		35,35,35	-2.7	0	19	dbSNP_116	118	1619,3799		254,1111,1344	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	29,29,29	919,1758,1543	TT,TC,CC		29.8819,34.5797,42.6066	benign,benign,benign	12/420,12/298,12/427	43269699	3596,4844	1511	2709	4220	SO:0001583	missense	440533	exon1			GTGATGCGCTGTG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.35G>A	19.37:g.43269699C>T	ENSP00000305005:p.Arg12His	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	706	0.3232600732600733	323	0.6565040650406504	109	0.3011049723756906	45	0.07867132867132867	229	0.3021108179419525	c	2.839	-0.240996	0.05906	0.654203	0.298819	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.23348	2.18;1.91;2.19	1.35	-2.7	0.06004	.	.	.	.	.	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.34925	-0.9809	8	0.18710	T	0.47	.	7.3607	0.26745	0.0:0.5348:0.0:0.4652	rs7260508;rs60422632	12;12;12	Q9UQ74-2;Q9UQ74;A5PKV3	.;PSG8_HUMAN;.	H	12	ENSP00000385869:R12H;ENSP00000385081:R12H;ENSP00000305005:R12H	ENSP00000305005:R12H	R	-	2	0	PSG8	47961539	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.718000	0.00813	-1.864000	0.01148	-2.741000	0.00127	CGC	C|0.620;T|0.380	0.380	strong		0.592	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43269699	C	T	43269699	3	4	23	1	0	0	0	0	1	0	0	0	12661	768	27	1	1286	1	PSG8	19	43269699	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	32683	43269699	15859284	4356	20812	415	3								
PSG8	440533	hgsc.bcm.edu	37	chr19	43269704	43269704	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccttccaggtgatgcgctgTgtgcagggaggggctgagag					rs71337226|rs34129574|rs62112127	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43269704T>C	ENST00000306511.4	-	1	127	c.30A>G	c.(28-30)acA>acG	p.T10T	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Silent_p.T10T|PSG8_ENST00000406636.3_Silent_p.T10T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	10				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATGCGCTGTGTGCAGGGAG	0.597													.|||	1834	0.366214	0.7322	0.2781	5008	,	,		17082	0.0933		0.3241	False		,,,				2504	0.2587				p.T10T		Atlas-SNP	.											.	PSG8	101	.	0			c.A30G						PASS	.	C	,,	1742,1280		670,402,439	120	120	120		30,30,30	-1	0	19	dbSNP_129	120	1357,4061		286,785,1638	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	,,	956,1187,2077	CC,CT,TT		25.0461,42.3561,36.718	,,	10/420,10/298,10/427	43269704	3099,5341	1511	2709	4220	SO:0001819	synonymous_variant	440533	exon1			GCGCTGTGTGCAG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.30A>G	19.37:g.43269704T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	32	13	0.40625	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	CCDS33037.1																																																																																			T|0.624;C|0.376	0.376	strong		0.597	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			C	43269704	T	C	43269704	2	2	23	1	0	0	0	0	0	0	0	1	12661	1683	59	2		2	PSG8	19	43269704	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5	43269704	15859279	4357	20813	415	3								
PSG8	440533	hgsc.bcm.edu	37	chr19	43269705	43269705	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttccaggtgatgcgctgtGtgcagggaggggctgagagg					rs71337226|rs34129574|rs7245423	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43269705G>A	ENST00000306511.4	-	1	126	c.29C>T	c.(28-30)aCa>aTa	p.T10I	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T10I|PSG8_ENST00000406636.3_Missense_Mutation_p.T10I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	10				TQR -> MQH (in Ref. 2; CAH18672). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GATGCGCTGTGTGCAGGGAGG	0.592													.|||	1787	0.356829	0.7315	0.2709	5008	,	,		17015	0.0913		0.3091	False		,,,				2504	0.2342				p.T10I		Atlas-SNP	.											.	PSG8	101	.	0			c.C29T						PASS	.	A	ILE/THR,ILE/THR,ILE/THR	1734,1288		659,416,436	121	121	121		29,29,29	-2.7	0	19	dbSNP_116	121	1261,4157		251,759,1699	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	89,89,89	910,1175,2135	AA,AG,GG		23.2743,42.6208,35.4858	probably-damaging,probably-damaging,probably-damaging	10/420,10/298,10/427	43269705	2995,5445	1511	2709	4220	SO:0001583	missense	440533	exon1			CGCTGTGTGCAGG	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.29C>T	19.37:g.43269705G>A	ENSP00000305005:p.Thr10Ile	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	33	13	0.393939	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	599	0.2742673992673993	269	0.5467479674796748	100	0.27624309392265195	40	0.06993006993006994	190	0.25065963060686014	g	5.454	0.268926	0.10349	0.573792	0.232743	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T;T	0.25749	2.18;1.78;3.3;2.19	1.35	-2.7	0.06004	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D;P;P	0.60160	0.987;0.848;0.918	P;P;P	0.56960	0.81;0.521;0.558	T	0.46512	-0.9186	8	0.56958	D	0.05	.	1.4681	0.02410	0.1869:0.268:0.387:0.1581	rs7245423;rs57041720	10;10;10	Q9UQ74-2;Q9UQ74;A5PKV3	.;PSG8_HUMAN;.	I	10	ENSP00000385869:T10I;ENSP00000385081:T10I;ENSP00000386090:T10I;ENSP00000305005:T10I	ENSP00000305005:T10I	T	-	2	0	PSG8	47961545	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.768000	0.04715	-2.180000	0.00766	-1.139000	0.01908	ACA	G|0.635;A|0.365	0.365	strong		0.592	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43269705	G	A	43269705	3	1	23	1	0	0	0	0	1	0	0	0	12661	1377	48	2	1292	2	PSG8	19	43269705	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	43269705	15859278	4358	20814	415	3								
PSG11	5680	hgsc.bcm.edu	37	chr19	43528921	43528921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgtgtaaggtgtaggatcCtgcgtcctcccgggtgacat	14	9	0	1	rs558961472	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43528921C>G	ENST00000401740.1	-	2	455	c.352G>C	c.(352-354)Gga>Cga	p.G118R	PSG11_ENST00000320078.7_Missense_Mutation_p.G118R|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	118	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGTAGGATCCTGCGTCCTCC	0.458													.|||	2	0.000399361	0.0	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.002				p.G118R		Atlas-SNP	.											PSG11,NS,carcinoma,+2,1	PSG11	57	1	0			c.G352C						scavenged	.						154	147	150					19																	43528921		2199	4294	6493	SO:0001583	missense	5680	exon2			AGGATCCTGCGTC	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.352G>C	19.37:g.43528921C>G	ENSP00000384995:p.Gly118Arg	Somatic	310	0	0		WXS	Illumina HiSeq	Phase_I	359	27	0.0752089	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	10.99	1.507740	0.27036	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.11821	2.74;2.74	0.929	0.929	0.19449	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32912	0.0845	M	0.79805	2.47	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05354	-1.0890	9	0.59425	D	0.04	.	5.2086	0.15304	0.0:1.0:0.0:0.0	.	118	Q9UQ72	PSG11_HUMAN	R	118	ENSP00000319140:G118R;ENSP00000384995:G118R	ENSP00000319140:G118R	G	-	1	0	PSG11	48220761	0.007000	0.16637	0.011000	0.14972	0.029000	0.11900	0.559000	0.23485	0.795000	0.33922	0.184000	0.17185	GGA	.	.	none		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		G	43528921	C	G	43528921	3	3	23	1	0	0	0	0	1	0	0	0	12654	690	24	4	671	4	PSG11	19	43528921	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	259216	43528921	15600062	4359	20815										
PSG2	5670	hgsc.bcm.edu	37	chr19	43575905	43575905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctcgccagtggctgagttaCgaacagagcaaacatagagc	11	11	0	3	rs77035666	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43575905C>T	ENST00000406487.1	-	4	1009	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	304	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R304H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGCTGAGTTACGAACAGAGCA	0.453													C|||	484	0.0966454	0.0651	0.2061	5008	,	,		19273	0.004		0.1103	False		,,,				2504	0.1431				p.R304H		Atlas-SNP	.											PSG2,NS,carcinoma,0,1	PSG2	84	1	1	Substitution - Missense(1)	pancreas(1)	c.G911A						scavenged	.	C	HIS/ARG	322,4082	171.9+/-202.1	23,276,1903	176	180	179		911	-2.5	0	19	dbSNP_131	179	942,7656	206.8+/-248.7	57,828,3414	yes	missense	PSG2	NM_031246.3	29	80,1104,5317	TT,TC,CC		10.956,7.3115,9.7216		304/336	43575905	1264,11738	2202	4299	6501	SO:0001583	missense	5670	exon4			GAGTTACGAACAG		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.911G>A	19.37:g.43575905C>T	ENSP00000385706:p.Arg304His	Somatic	227	2	0.00881057		WXS	Illumina HiSeq	Phase_I	234	121	0.517094	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	188	0.08608058608058608	32	0.06504065040650407	63	0.17403314917127072	2	0.0034965034965034965	91	0.12005277044854881	c	0.004	-2.267055	0.00259	0.073115	0.10956	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.12774	2.65	1.26	-2.53	0.06326	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00039	0.0001	L	0.33710	1.025	0.80722	P	0.0	B;B	0.24368	0.021;0.102	B;B	0.18263	0.009;0.021	T	0.43196	-0.9406	8	0.09843	T	0.71	.	2.1681	0.03843	0.0:0.2749:0.324:0.4011	.	304;304	B5MCM8;P11465	.;PSG2_HUMAN	H	304	ENSP00000385706:R304H	ENSP00000332984:R304H	R	-	2	0	PSG2	48267745	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	-0.559000	0.05971	-0.279000	0.09167	-0.507000	0.04495	CGT	C|0.904;T|0.096	0.096	strong		0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43575905	C	T	43575905	3	4	23	1	0	0	0	0	1	0	0	0	12655	536	19	1	104	1	PSG2	19	43575905	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	46984	43575905	15553078	4360	20816										
PSG2	5670	hgsc.bcm.edu	37	chr19	43575982	43575982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttgtcctgattgctgaaaCttcccattaattgtccaaga	6	9	0	3	rs150568950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43575982C>T	ENST00000406487.1	-	4	932	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	278	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTGCTGAAACTTCCCATTAA	0.448													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		20458	0.0		0.001	False		,,,				2504	0.0				p.K278K		Atlas-SNP	.											PSG2,NS,carcinoma,-1,1	PSG2	84	1	0			c.G834A						PASS	.	C		6,4398	825.3+/-416.5	0,6,2196	190	199	196		834	-1.7	0	19	dbSNP_134	196	32,8566	817.7+/-406.9	0,32,4267	no	coding-synonymous	PSG2	NM_031246.3		0,38,6463	TT,TC,CC		0.3722,0.1362,0.2923		278/336	43575982	38,12964	2202	4299	6501	SO:0001819	synonymous_variant	5670	exon4			CTGAAACTTCCCA		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.834G>A	19.37:g.43575982C>T		Somatic	249	1	0.00401606		WXS	Illumina HiSeq	Phase_I	234	108	0.461538	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																			C|0.998;T|0.002	0.002	strong		0.448	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43575982	C	T	43575982	2	4	23	1	0	0	0	0	0	0	0	1	12655	564	20	2		2	PSG2	19	43575982	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	77	43575982	15553001	4361	20817										
PSG2	5670	hgsc.bcm.edu	37	chr19	43579679	43579679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgaccattcatccaccacTggtagcttgtgtccggagtc	9	13	2	1	rs1058086	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:43579679T>A	ENST00000406487.1	-	3	634	c.536A>T	c.(535-537)cAg>cTg	p.Q179L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	179	Ig-like C2-type 1.		Q -> L (in dbSNP:rs1058086).		cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CATCCACCACTGGTAGCTTGT	0.502													T|||	609	0.121605	0.056	0.2017	5008	,	,		19263	0.0893		0.1103	False		,,,				2504	0.1984				p.Q179L		Atlas-SNP	.											.	PSG2	84	.	0			c.A536T						PASS	.	T	LEU/GLN	303,4101		21,261,1920	245	247	246		536	-2.7	0	19	dbSNP_86	246	964,7630		57,850,3390	no	missense	PSG2	NM_031246.3	113	78,1111,5310	AA,AT,TT		11.2171,6.8801,9.7477		179/336	43579679	1267,11731	2202	4297	6499	SO:0001583	missense	5670	exon3			CACCACTGGTAGC		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.536A>T	19.37:g.43579679T>A	ENSP00000385706:p.Gln179Leu	Somatic	264	1	0.00378788		WXS	Illumina HiSeq	Phase_I	284	121	0.426056	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	231	0.10576923076923077	30	0.06097560975609756	61	0.1685082872928177	49	0.08566433566433566	91	0.12005277044854881	N	0	-2.587248	0.00128	0.068801	0.112171	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.14516	2.5	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.01076	-1.035	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29305	-1.0016	8	0.02654	T	1	.	3.0717	0.06233	0.2961:0.4666:0.0:0.2373	rs1058086;rs3198696;rs16976416;rs57294777	179;179	B5MCM8;P11465	.;PSG2_HUMAN	L	179	ENSP00000385706:Q179L	ENSP00000332984:Q179L	Q	-	2	0	PSG2	48271519	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-3.566000	0.00429	-1.108000	0.03000	-0.589000	0.04120	CAG	T|0.897;A|0.103	0.103	strong		0.502	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		A	43579679	T	A	43579679	3	1	23	1	0	0	0	0	1	0	0	0	12655	1580	55	5	483	5	PSG2	19	43579679	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3697	43579679	15549304	4362	20818										
PHLDB3	653583	hgsc.bcm.edu	37	chr19	44001345	44001345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcccagggctgtcccgatcCtcctcctcctgccggctctc	10	20	1	0	rs7257767	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44001345C>T	ENST00000292140.5	-	6	1110	c.750G>A	c.(748-750)gaG>gaA	p.E250E	PHLDB3_ENST00000599242.1_Silent_p.E250E	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	250							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TGTCCCGATCCTCCTCCTCCT	0.632													C|||	892	0.178115	0.3321	0.1066	5008	,	,		16847	0.1131		0.1113	False		,,,				2504	0.1564				p.E250E		Atlas-SNP	.											.	PHLDB3	30	.	0			c.G750A						PASS	.	C		1146,3260	401.5+/-332.0	143,860,1200	59	58	58		750	1	1	19	dbSNP_116	58	891,7709	197.9+/-242.4	48,795,3457	no	coding-synonymous	PHLDB3	NM_198850.3		191,1655,4657	TT,TC,CC		10.3605,26.01,15.662		250/641	44001345	2037,10969	2203	4300	6503	SO:0001819	synonymous_variant	653583	exon6			CCGATCCTCCTCC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.750G>A	19.37:g.44001345C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	81	36	0.444444	NM_198850	Q8N7Z4	Silent	SNP	ENST00000292140.5	37	CCDS12621.2																																																																																			C|0.843;T|0.157	0.157	strong		0.632	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			T	44001345	C	T	44001345	2	4	23	1	0	0	0	0	0	0	0	1	11853	680	24	2		2	PHLDB3	19	44001345	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	421666	44001345	15127638	4363	20819										
PLAUR	5329	hgsc.bcm.edu	37	chr19	44153100	44153100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcattagcagggtgatggtgAggctgagatgggcagggcca	18	6	1	3	rs4760	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44153100A>G	ENST00000340093.3	-	7	1179	c.950T>C	c.(949-951)cTc>cCc	p.L317P	PLAUR_ENST00000339082.3_Intron|PLAUR_ENST00000601723.1_Missense_Mutation_p.L268P|PLAUR_ENST00000221264.4_Missense_Mutation_p.L272P	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	317			L -> P (in dbSNP:rs4760). {ECO:0000269|Ref.8}.		attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTGATGGTGAGGCTGAGATG	0.602													A|||	343	0.0684904	0.0038	0.0821	5008	,	,		19100	0.0		0.1491	False		,,,				2504	0.1339				p.L317P		Atlas-SNP	.											.	PLAUR	71	.	0			c.T950C						PASS	.	A	,PRO/LEU,PRO/LEU	132,4274	95.7+/-134.4	3,126,2074	96	84	88		,815,950	2.9	0.1	19	dbSNP_52	88	1327,7273	259.1+/-282.5	91,1145,3064	yes	intron,missense,missense	PLAUR	NM_001005376.2,NM_001005377.2,NM_002659.3	,98,98	94,1271,5138	GG,GA,AA		15.4302,2.9959,11.2179	,probably-damaging,probably-damaging	,272/291,317/336	44153100	1459,11547	2203	4300	6503	SO:0001583	missense	5329	exon7			ATGGTGAGGCTGA		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.950T>C	19.37:g.44153100A>G	ENSP00000339328:p.Leu317Pro	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	148	68	0.459459	NM_002659	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	146	0.06684981684981685	1	0.0020325203252032522	26	0.0718232044198895	0	0.0	119	0.15699208443271767	A	14.78	2.637424	0.47049	0.029959	0.154302	ENSG00000011422	ENST00000340093;ENST00000221264	T;T	0.13538	2.62;2.58	3.94	2.93	0.34026	.	0.809357	0.10433	N	0.675276	T	0.00109	0.0003	L	0.55481	1.735	0.37595	P	0.07964499999999997	D;D	0.64830	0.99;0.994	D;P	0.63192	0.912;0.84	T	0.10800	-1.0614	9	0.54805	T	0.06	-5.0102	5.7743	0.18271	0.8805:0.0:0.1195:0.0	rs4760;rs3199954;rs4760	272;317	Q03405-3;Q03405	.;UPAR_HUMAN	P	317;272	ENSP00000339328:L317P;ENSP00000221264:L272P	ENSP00000221264:L272P	L	-	2	0	PLAUR	48844940	0.632000	0.27172	0.117000	0.21633	0.262000	0.26303	2.117000	0.41939	0.881000	0.35993	0.260000	0.18958	CTC	A|0.908;G|0.092	0.092	strong		0.602	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		G	44153100	A	G	44153100	3	3	23	1	0	0	0	0	1	0	0	0	12023	304	11	3	157	3	PLAUR	19	44153100	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	151755	44153100	14975883	4364	20820										
LYPD5	284348	hgsc.bcm.edu	37	chr19	44306482	44306482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcgtacctgtcaggcagagCgcagccccaaagaggcagag	14	12	1	3	rs11879355	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44306482C>T	ENST00000377950.3	-	1	131	c.51G>A	c.(49-51)gcG>gcA	p.A17A	LYPD5_ENST00000414615.2_Intron|LYPD5_ENST00000594013.1_5'Flank	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	17						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				TCAGGCAGAGCGCAGCCCCAA	0.607													C|||	1074	0.214457	0.1823	0.2507	5008	,	,		13983	0.1101		0.3956	False		,,,				2504	0.1534				p.A17A		Atlas-SNP	.											LYPD5_ENST00000377950,colon,carcinoma,-1,1	LYPD5	22	1	0			c.G51A						PASS	.						65	71	69					19																	44306482		692	1591	2283	SO:0001819	synonymous_variant	284348	exon1			GCAGAGCGCAGCC	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.51G>A	19.37:g.44306482C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	75	39	0.52	NM_001031749	Q6PEX9|Q96DR2	Silent	SNP	ENST00000377950.3	37	CCDS46096.1																																																																																			C|0.728;T|0.272	0.272	strong		0.607	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		T	44306482	C	T	44306482	2	4	23	1	0	0	0	0	0	0	0	1	9113	755	27	1		1	LYPD5	19	44306482	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	153382	44306482	14822501	4365	20821										
ZNF283	284349	hgsc.bcm.edu	37	chr19	44351694	44351694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaacatcagaaaattcataCtggtgtgaaatcttataaat	5	7	3	2	rs2195980	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44351694C>T	ENST00000324461.7	+	7	1238	c.941C>T	c.(940-942)aCt>aTt	p.T314I	ZNF283_ENST00000588797.1_Missense_Mutation_p.T175I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	314			T -> I (in dbSNP:rs2195980). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7865130}.		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(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAAATTCATACTGGTGTGAAA	0.398													T|||	4021	0.802915	0.9592	0.6513	5008	,	,		20570	0.5982		0.8638	False		,,,				2504	0.8476				p.T314I		Atlas-SNP	.											.	ZNF283	83	.	0			c.C941T						PASS	.	T	ILE/THR	4114,230		1950,214,8	45	52	50		941	2	1	19	dbSNP_96	50	7342,1220		3155,1032,94	no	missense	ZNF283	NM_181845.1	89	5105,1246,102	TT,TC,CC		14.249,5.2947,11.2351	benign	314/680	44351694	11456,1450	2172	4281	6453	SO:0001583	missense	284349	exon7			TTCATACTGGTGT	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.941C>T	19.37:g.44351694C>T	ENSP00000327314:p.Thr314Ile	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	133	77	0.578947	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	1723	0.7889194139194139	473	0.9613821138211383	255	0.7044198895027625	337	0.5891608391608392	658	0.8680738786279684	c	9.647	1.140523	0.21205	0.947053	0.85751	ENSG00000167637	ENST00000324461	T	0.25749	1.78	3.0	1.97	0.26223	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.56769	1.78	0.09310	P	0.9999999999999568	B	0.02656	0.0	B	0.06405	0.002	T	0.10382	-1.0632	8	0.51188	T	0.08	.	4.9103	0.13818	0.0:0.415:0.0:0.585	rs2195980;rs52801196;rs58512958;rs2195980	314	Q8N7M2	ZN283_HUMAN	I	314	ENSP00000327314:T314I	ENSP00000327314:T314I	T	+	2	0	ZNF283	49043534	0.087000	0.21565	1.000000	0.80357	0.790000	0.44656	0.064000	0.14437	0.380000	0.24823	-0.360000	0.07572	ACT	C|0.206;T|0.794	0.794	strong		0.398	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		T	44351694	C	T	44351694	3	4	23	1	0	0	0	0	1	0	0	0	17817	565	20	2	955	2	ZNF283	19	44351694	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	45212	44351694	14777289	4366	20822										
ZNF283	284349	hgsc.bcm.edu	37	chr19	44351836	44351836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccttcagtcgtggctatcaGcttactcagcatcagaaaat	8	11	4	1	rs957569	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44351836G>A	ENST00000324461.7	+	7	1380	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF283_ENST00000588797.1_Silent_p.Q222Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	361					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(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTGGCTATCAGCTTACTCAGC	0.388													A|||	3417	0.682308	0.8533	0.536	5008	,	,		21154	0.374		0.7684	False		,,,				2504	0.7843				p.Q361Q		Atlas-SNP	.											.	ZNF283	83	.	0			c.G1083A						PASS	.	A		3652,694	263.8+/-265.7	1537,578,58	79	93	88		1083	1.8	1	19	dbSNP_86	88	6547,2021	342.6+/-324.5	2517,1513,254	no	coding-synonymous	ZNF283	NM_181845.1		4054,2091,312	AA,AG,GG		23.5878,15.9687,21.0237		361/680	44351836	10199,2715	2173	4284	6457	SO:0001819	synonymous_variant	284349	exon7			CTATCAGCTTACT	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1083G>A	19.37:g.44351836G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	118	56	0.474576	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	CCDS46097.1																																																																																			G|0.328;A|0.672	0.672	strong		0.388	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		A	44351836	G	A	44351836	2	1	23	1	0	0	0	0	0	0	0	1	17817	962	34	2		2	ZNF283	19	44351836	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	142	44351836	14777147	4367	20823										
ZNF283	284349	hgsc.bcm.edu	37	chr19	44352665	44352665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aattcgggaagacctttactTgtggctcaaaacttgttcat	8	8	2	1	rs2356437|rs386809609|rs371852581	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44352665T>C	ENST00000324461.7	+	7	2209	c.1912T>C	c.(1912-1914)Tgt>Cgt	p.C638R	ZNF283_ENST00000588797.1_Missense_Mutation_p.C499R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	638			C -> R (in dbSNP:rs2356437).|C -> Y (in dbSNP:rs1061769).	C -> H (in Ref. 1; BAC05251/BAG57956 and 4; AAS55109). {ECO:0000305}.	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(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GACCTTTACTTGTGGCTCAAA	0.398													C|||	3417	0.682308	0.8533	0.536	5008	,	,		19701	0.374		0.7684	False		,,,				2504	0.7843				p.C638R		Atlas-SNP	.											ZNF283_ENST00000324461,colon,carcinoma,0,1	ZNF283	83	1	0			c.T1912C						PASS	.	C	ARG/CYS	3346,690		1429,488,101	98	106	103		1912	-1.7	0	19	dbSNP_100	103	6268,2114		2464,1340,387	yes	missense	ZNF283	NM_181845.1	180	3893,1828,488	CC,CT,TT		25.2207,17.0961,22.5801	benign	638/680	44352665	9614,2804	2018	4191	6209	SO:0001583	missense	284349	exon7			TTTACTTGTGGCT	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1912T>C	19.37:g.44352665T>C	ENSP00000327314:p.Cys638Arg	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	1338	0.6126373626373627	387	0.7865853658536586	205	0.5662983425414365	191	0.3339160839160839	555	0.7321899736147758	C	2.444	-0.327973	0.05314	0.829039	0.747793	ENSG00000167637	ENST00000324461	T	0.06608	3.28	2.6	-1.72	0.08107	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.03194	-0.395	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	8	0.08179	T	0.78	.	3.364	0.07197	0.3032:0.2499:0.0:0.4469	rs2356437;rs57860916;rs2356437	638	Q8N7M2	ZN283_HUMAN	R	638	ENSP00000327314:C638R	ENSP00000327314:C638R	C	+	1	0	ZNF283	49044505	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-4.778000	0.00187	-0.926000	0.03770	-0.226000	0.12346	TGT	T|0.341;C|0.659	0.659	strong		0.398	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		C	44352665	T	C	44352665	3	2	23	1	0	0	0	0	1	0	0	0	17817	1812	63	2	1926	2	ZNF283	19	44352665	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	829	44352665	14776318	4368	20824										
ZNF404	342908	hgsc.bcm.edu	37	chr19	44377972	44377972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcttatattccttacactCatatgatttctctcttgtgt	3	10	4	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44377972C>T	ENST00000587539.1	-	3	393	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E130K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	132					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)				TCCTTACACTCATATGATTTC	0.343																																					p.E129K		Atlas-SNP	.											ZNF404,NS,carcinoma,+2,1	ZNF404	46	1	0			c.G385A						scavenged	.						106	125	119					19																	44377972		1867	4125	5992	SO:0001583	missense	342908	exon2			TACACTCATATGA	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.394G>A	19.37:g.44377972C>T	ENSP00000466051:p.Glu132Lys	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	240	3	0.0125	NM_001033719	A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321968	0.05386	.	.	ENSG00000176222	ENST00000324394	T	0.14144	2.53	2.99	0.784	0.18578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.11789	0.175	0.09310	N	1	P	0.35923	0.528	B	0.36335	0.222	T	0.25257	-1.0137	9	0.02654	T	1	.	2.8031	0.05420	0.2045:0.4422:0.0:0.3533	.	132	Q494X3	ZN404_HUMAN	K	130	ENSP00000319479:E130K	ENSP00000319479:E130K	E	-	1	0	ZNF404	49069812	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.676000	0.00840	0.133000	0.18654	0.404000	0.27445	GAG	.	.	none		0.343	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		T	44377972	C	T	44377972	3	4	23	1	0	0	0	0	1	0	0	0	17883	835	29	2	1268	2	ZNF404	19	44377972	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	25307	44377972	14751011	4369	20825										
ZNF155	7711	hgsc.bcm.edu	37	chr19	44496070	44496070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgatggggacagcaacccaAagagaagggaattcaggtaa	13	6	1	2	rs431509	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44496070A>G	ENST00000270014.2	+	4	347	c.219A>G	c.(217-219)caA>caG	p.Q73Q	ZNF155_ENST00000590615.1_Silent_p.Q73Q|ZNF155_ENST00000407951.2_Silent_p.Q84Q	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CAGCAACCCAAAGAGAAGGGA	0.478													A|||	2257	0.450679	0.5575	0.4942	5008	,	,		21633	0.5466		0.2893	False		,,,				2504	0.3425				p.Q84Q	NSCLC(61;554 1277 20909 42067 42312)	Atlas-SNP	.											.	ZNF155	30	.	0			c.A252G						PASS	.	A	,	2295,2111	601.2+/-389.7	607,1081,515	149	149	149		219,219	-2	0.1	19	dbSNP_80	149	2443,6157	403.2+/-347.7	355,1733,2212	no	coding-synonymous,coding-synonymous	ZNF155	NM_003445.2,NM_198089.1	,	962,2814,2727	GG,GA,AA		28.407,47.9119,36.4293	,	73/539,73/539	44496070	4738,8268	2203	4300	6503	SO:0001819	synonymous_variant	7711	exon5			AACCCAAAGAGAA	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.219A>G	19.37:g.44496070A>G		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	139	139	1	NM_001260488	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	CCDS12634.1																																																																																			A|0.624;G|0.376	0.376	strong		0.478	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		G	44496070	A	G	44496070	2	3	23	1	0	0	0	0	0	0	0	1	17733	11	1	2		2	ZNF155	19	44496070	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	118098	44496070	14632913	4370	20826										
ZNF155	7711	hgsc.bcm.edu	37	chr19	44501518	44501518	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acataccgtaaagaccagccGagagactatagtggggaaaa	11	8	0	2	rs446016	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44501518G>A	ENST00000270014.2	+	5	1637	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	ZNF155_ENST00000590615.1_Silent_p.P503P|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Silent_p.P514P	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	503					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAGACCAGCCGAGAGACTATA	0.418													G|||	1989	0.397165	0.3328	0.5086	5008	,	,		17839	0.6081		0.2763	False		,,,				2504	0.3119				p.P514P	NSCLC(61;554 1277 20909 42067 42312)	Atlas-SNP	.											.	ZNF155	30	.	0			c.G1542A						PASS	.	G	,	1382,3024	454.9+/-350.8	193,996,1014	92	95	94		1509,1509	-4.1	0	19	dbSNP_80	94	2406,6194	397.3+/-345.7	312,1782,2206	no	coding-synonymous,coding-synonymous	ZNF155	NM_003445.2,NM_198089.1	,	505,2778,3220	AA,AG,GG		27.9767,31.3663,29.125	,	503/539,503/539	44501518	3788,9218	2203	4300	6503	SO:0001819	synonymous_variant	7711	exon6			CCAGCCGAGAGAC	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1509G>A	19.37:g.44501518G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	72	36	0.5	NM_001260488	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	CCDS12634.1																																																																																			G|0.668;A|0.332	0.332	strong		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		A	44501518	G	A	44501518	2	1	23	1	0	0	0	0	0	0	0	1	17733	1045	37	1		1	ZNF155	19	44501518	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5448	44501518	14627465	4371	20827										
ZNF234	10780	hgsc.bcm.edu	37	chr19	44660967	44660967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacaattgtgaggaatgtggAagggccttcatacatgcttc	11	7	1	1	rs12609635	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44660967A>G	ENST00000426739.2	+	6	1056	c.798A>G	c.(796-798)ggA>ggG	p.G266G	ZNF234_ENST00000592437.1_Silent_p.G266G	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	266					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGAATGTGGAAGGGCCTTCA	0.418													G|||	2851	0.569289	0.9418	0.4726	5008	,	,		23488	0.4931		0.3668	False		,,,				2504	0.4213				p.G266G		Atlas-SNP	.											.	ZNF234	132	.	0			c.A798G						PASS	.	G	,	3702,704	272.5+/-270.8	1568,566,69	136	144	142		798,798	-4.3	0	19	dbSNP_120	142	3162,5438	643.0+/-399.9	577,2008,1715	no	coding-synonymous,coding-synonymous	ZNF234	NM_001144824.1,NM_006630.2	,	2145,2574,1784	GG,GA,AA		36.7674,15.9782,47.2244	,	266/701,266/701	44660967	6864,6142	2203	4300	6503	SO:0001819	synonymous_variant	10780	exon6			ATGTGGAAGGGCC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.798A>G	19.37:g.44660967A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	153	74	0.48366	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	CCDS46101.1																																																																																			A|0.448;G|0.552	0.552	strong		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			G	44660967	A	G	44660967	2	3	23	1	0	0	0	0	0	0	0	1	17784	233	9	2		2	ZNF234	19	44660967	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	159449	44660967	14468016	4372	20828										
ZNF235	9310	hgsc.bcm.edu	37	chr19	44793278	44793278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcttgatttgccagcatgAaagctctcccagtgaaaagc	8	11	2	3	rs141976678	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44793278A>G	ENST00000291182.4	-	5	412	c.310T>C	c.(310-312)Tca>Cca	p.S104P	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	104					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGCCAGCATGAAAGCTCTCCC	0.418																																					p.S104P		Atlas-SNP	.											.	ZNF235	60	.	0			c.T310C						PASS	.	A	PRO/SER	3,4403	4.2+/-10.8	0,3,2200	56	58	57		310	0.9	0.6	19	dbSNP_134	57	8,8592	4.3+/-15.6	0,8,4292	yes	missense	ZNF235	NM_004234.4	74	0,11,6492	GG,GA,AA		0.093,0.0681,0.0846	benign	104/739	44793278	11,12995	2203	4300	6503	SO:0001583	missense	9310	exon5			AGCATGAAAGCTC	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.310T>C	19.37:g.44793278A>G	ENSP00000291182:p.Ser104Pro	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	121	62	0.512397	NM_004234	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.706086	0.30232	6.81E-4	9.3E-4	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.05855	3.38	4.18	0.951	0.19579	.	0.487586	0.15465	N	0.260936	T	0.03695	0.0105	N	0.13003	0.285	0.20074	N	0.999938	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.42068	-0.9473	10	0.33940	T	0.23	.	7.7635	0.28965	0.7099:0.0:0.2901:0.0	.	100;104	Q14590-2;Q14590	.;ZN235_HUMAN	P	100;104;104;26	ENSP00000291182:S104P	ENSP00000291182:S104P	S	-	1	0	ZNF235	49485118	0.001000	0.12720	0.635000	0.29338	0.938000	0.57974	0.195000	0.17155	0.279000	0.22186	0.379000	0.24179	TCA	A|0.999;G|0.001	0.001	strong		0.418	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			G	44793278	A	G	44793278	3	3	23	1	0	0	0	0	1	0	0	0	17785	246	9	2	1910	2	ZNF235	19	44793278	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	132311	44793278	14335705	4373	20829										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891009	44891009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgaagaacagagctataCgcaaaatcctttccacacac	7	11	0	3	rs139913772	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44891009C>T	ENST00000330997.4	-	4	1462	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.A466A|ZNF285_ENST00000591679.1_Silent_p.A473A	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CAGAGCTATACGCAAAATCCT	0.423																																					p.A466A		Atlas-SNP	.											ZNF285,NS,carcinoma,0,2	ZNF285	86	2	0			c.G1398A						PASS	.	T		0,4406		0,0,2203	84	85	85		1398	-6.9	0	19	dbSNP_134	85	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	ZNF285	NM_152354.3		0,8,6495	TT,TC,CC		0.093,0.0,0.0615		466/591	44891009	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	26974	exon4			GCTATACGCAAAA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1398G>A	19.37:g.44891009C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	200	84	0.42	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																			C|0.999;T|0.001	0.001	strong		0.423	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891009	C	T	44891009	2	4	23	1	0	0	0	0	0	0	0	1	17819	523	19	1		1	ZNF285	19	44891009	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	97731	44891009	14237974	4374	20830										
ZNF229	7772	hgsc.bcm.edu	37	chr19	44932972	44932972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgcacctaaagccctttcCgcactcttggcatctgtaag	8	13	2	0	rs1434579	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:44932972C>T	ENST00000588931.1	-	6	2417	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.G656R	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	662			G -> R (in dbSNP:rs1434579). {ECO:0000269|Ref.4}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGCCCTTTCCGCACTCTTGG	0.493													C|||	1442	0.287939	0.0484	0.2608	5008	,	,		22657	0.3294		0.3598	False		,,,				2504	0.5143				p.G662R		Atlas-SNP	.											ZNF229,NS,carcinoma,+1,1	ZNF229	123	1	0			c.G1984A						PASS	.	C	ARG/GLY	393,3919		20,353,1783	126	127	127	http://www.ncbi.nlm.nih.gov/pubmed?term	1984	3.5	0	19	dbSNP_88	127	2912,5640		507,1898,1871	yes	missense	ZNF229	NM_014518.2	125	527,2251,3654	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	34.0505,9.1141,25.6919	probably-damaging	662/826	44932972	3305,9559	2156	4276	6432	SO:0001583	missense	7772	exon6			CCTTTCCGCACTC	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1984G>A	19.37:g.44932972C>T	ENSP00000466519:p.Gly662Arg	Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	225	124	0.551111	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	570	0.260989010989011	20	0.04065040650406504	94	0.2596685082872928	182	0.3181818181818182	274	0.36147757255936674	C	22.8	4.337383	0.81911	0.091141	0.340505	ENSG00000167383	ENST00000291187	.	.	.	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.81497	2.545	0.26784	P	0.969539	D	0.89917	1.0	D	0.67231	0.95	T	0.04005	-1.0985	7	0.59425	D	0.04	.	14.1802	0.65568	0.0:1.0:0.0:0.0	rs1434579;rs17347602;rs52817635;rs59210988;rs1434579	662	Q9UJW7	ZN229_HUMAN	R	662	.	ENSP00000291187:G662R	G	-	1	0	ZNF229	49624812	0.197000	0.23362	0.030000	0.17652	0.143000	0.21401	1.720000	0.38022	1.677000	0.50941	0.609000	0.83330	GGA	C|0.728;T|0.272	0.272	strong		0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		T	44932972	C	T	44932972	3	4	23	1	0	0	0	0	1	0	0	0	17779	661	23	1	497	1	ZNF229	19	44932972	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41963	44932972	14196011	4375	20831										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45016116	45016116	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaagctgggatatattgcAatactcaggactcaggcttt	10	8	2	1	rs8100718	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45016116A>G	ENST00000454753.1	-	0	1813							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.C511R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATATATTGCAATACTCAGGA	0.507													A|||	1925	0.384385	0.1679	0.4078	5008	,	,		18720	0.3919		0.4612	False		,,,				2504	0.5736				p.C512R		Atlas-SNP	.											CEACAM20,NS,carcinoma,0,1	CEACAM20	31	1	1	Substitution - Missense(1)	prostate(1)	c.T1534C						scavenged	.	A	ARG/CYS,ARG/CYS,ARG/CYS,ARG/CYS	917,3079		106,705,1187	46	46	46		1535,1256,1256,1535	0.9	0	19	dbSNP_116	46	4182,4158		1069,2044,1057	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	180,180,180,180	1175,2749,2244	GG,GA,AA		49.8561,22.9479,41.3343	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	512/597,419/492,419/504,512/585	45016116	5099,7237	1998	4170	6168			125931	exon10			TATTGCAATACTC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016116A>G		Somatic	222	2	0.00900901		WXS	Illumina HiSeq	Phase_I	167	87	0.520958	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				A|0.633;G|0.366	0.366	strong		0.507	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		G	45016116	A	G	45016116	1	3	23	0	1	0	0	0	0	0	0	0	3191	130	5	2		2	CEACAM20	19	45016116	RNA	SNP	A	TCGA-GR-7353-01A-11D-2210-10	83144	45016116	14112867	4376	20832										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45021210	45021210	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacactgcagggtcaggctgGagttgagctctgcctctatg	13	10	3	1	rs10414398	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45021210G>A	ENST00000454753.1	-	0	1384							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGTCAGGCTGGAGTTGAGCTC	0.567													G|||	938	0.1873	0.3033	0.2608	5008	,	,		19063	0.1369		0.0746	False		,,,				2504	0.1462				p.S369F		Atlas-SNP	.											.	CEACAM20	31	.	0			c.C1106T						PASS	.	G	PHE/SER,,,PHE/SER	966,3270		117,732,1269	75	73	74		1106,,,1106	2.4	0	19	dbSNP_119	74	699,7777		29,641,3568	yes	missense,intron,intron,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	155,,,155	146,1373,4837	AA,AG,GG		8.2468,22.8045,13.0979	probably-damaging,,,probably-damaging	369/597,,,369/585	45021210	1665,11047	2118	4238	6356			125931	exon6			AGGCTGGAGTTGA	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45021210G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				G|0.836;A|0.164	0.164	strong		0.567	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		A	45021210	G	A	45021210	1	1	23	0	1	0	0	0	0	0	0	0	3191	1174	41	2		2	CEACAM20	19	45021210	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5094	45021210	14107773	4377	20833										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45024535	45024535	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtcagctcaaggggctcacTccgggcccggctgccccagt	14	16	3	0	rs200961907		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45024535T>C	ENST00000454753.1	-	0	1281							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGGGCTCACTCCGGGCCCGG	0.592																																					p.S335G		Atlas-SNP	.											.	CEACAM20	31	.	0			c.A1003G						PASS	.		GLY/SER,GLY/SER,GLY/SER,GLY/SER	1,3869		0,1,1934	45	47	46		1003,1003,1003,1003	4.3	0	19		46	7,8257		0,7,4125	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	56,56,56,56	0,8,6059	CC,CT,TT		0.0847,0.0258,0.0659	probably-damaging,probably-damaging,probably-damaging,probably-damaging	335/597,335/492,335/504,335/585	45024535	8,12126	1935	4132	6067			125931	exon5			GCTCACTCCGGGC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024535T>C		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	43	0.5	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				T|0.996;C|0.004	0.004	weak		0.592	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		C	45024535	T	C	45024535	1	2	23	0	1	0	0	0	0	0	0	0	3191	1551	54	3		3	CEACAM20	19	45024535	RNA	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3325	45024535	14104448	4378	20834										
CEACAM20	125931	hgsc.bcm.edu	37	chr19	45029208	45029208	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caacatcctcactttgggtgGcatcaagtgggttggcattg	12	9	2	0	rs10408247	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45029208G>A	ENST00000454753.1	-	0	400							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACTTTGGGTGGCATCAAGTGG	0.567													G|||	1455	0.290535	0.6445	0.2911	5008	,	,		18869	0.1815		0.0765	False		,,,				2504	0.1442				p.A41V		Atlas-SNP	.											.	CEACAM20	31	.	0			c.C122T						PASS	.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2132,2024		560,1012,506	115	123	120		122,122,122,122	0	0	19	dbSNP_119	120	731,7695		31,669,3513	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	64,64,64,64	591,1681,4019	AA,AG,GG		8.6755,48.7007,22.7547	benign,benign,benign,benign	41/597,41/492,41/504,41/585	45029208	2863,9719	2078	4213	6291			125931	exon2			TGGGTGGCATCAA	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029208G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	238	105	0.441176	NM_001102600		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				G|0.725;A|0.275	0.275	strong		0.567	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		A	45029208	G	A	45029208	1	1	23	0	1	0	0	0	0	0	0	0	3191	1203	42	2		2	CEACAM20	19	45029208	RNA	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4673	45029208	14099775	4379	20835										
PVR	5817	hgsc.bcm.edu	37	chr19	45153113	45153113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacagctgaggttcagaagGtccagctcactggagagcca	12	11	2	3	rs35959395	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45153113G>C	ENST00000425690.3	+	3	759	c.460G>C	c.(460-462)Gtc>Ctc	p.V154L	PVR_ENST00000406449.4_Missense_Mutation_p.V154L|PVR_ENST00000403059.4_Missense_Mutation_p.V154L|PVR_ENST00000344956.4_Missense_Mutation_p.V154L|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	154	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGTTCAGAAGGTCCAGCTCAC	0.602													G|||	6	0.00119808	0.0	0.0	5008	,	,		16803	0.0		0.006	False		,,,				2504	0.0				p.V154L		Atlas-SNP	.											.	PVR	23	.	0			c.G460C						PASS	.	G	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	121	129	126		460,460,460,460	-0.5	0	19	dbSNP_126	126	19,8581	11.9+/-42.8	0,19,4281	yes	missense,missense,missense,missense	PVR	NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3	32,32,32,32	0,21,6482	CC,CG,GG		0.2209,0.0454,0.1615	probably-damaging,probably-damaging,probably-damaging,probably-damaging	154/373,154/365,154/393,154/418	45153113	21,12985	2203	4300	6503	SO:0001583	missense	5817	exon3			CAGAAGGTCCAGC	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.460G>C	19.37:g.45153113G>C	ENSP00000402060:p.Val154Leu	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	133	60	0.451128	NM_001135769	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	15.03	2.712862	0.48517	4.54E-4	0.002209	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.35	-0.515	0.11954	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	1.055660	0.07497	N	0.906707	D	0.86493	0.5946	M	0.90309	3.105	0.09310	N	1	P;D;D;D	0.59767	0.842;0.983;0.983;0.986	P;D;D;D	0.74023	0.698;0.957;0.969;0.982	T	0.70328	-0.4902	10	0.20046	T	0.44	.	4.0615	0.09841	0.3186:0.1848:0.4966:0.0	rs35959395	154;154;154;154	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	L	154	ENSP00000340870:V154L;ENSP00000402060:V154L;ENSP00000383907:V154L;ENSP00000385344:V154L	ENSP00000340870:V154L	V	+	1	0	PVR	49844953	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	0.802000	0.27069	-0.290000	0.09025	-0.339000	0.08088	GTC	G|0.999;C|0.001	0.001	strong		0.602	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		C	45153113	G	C	45153113	3	2	23	1	0	0	0	0	1	0	0	0	12837	1261	44	4	470	4	PVR	19	45153113	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	123905	45153113	13975870	4380	20836										
BCAM	4059	hgsc.bcm.edu	37	chr19	45315445	45315445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgctcgggagctcgcccccGcctagcctcggctgagatgc	13	18	0	1	rs28399653	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45315445G>A	ENST00000270233.6	+	3	252	c.230G>A	c.(229-231)cGc>cAc	p.R77H	BCAM_ENST00000589651.1_Missense_Mutation_p.R77H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	77	Ig-like V-type 1.		R -> H (defines the Lu(a) antigen; dbSNP:rs28399653). {ECO:0000269|Ref.2}.		cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTCGCCCCCGCCTAGCCTCG	0.692													G|||	84	0.0167732	0.0295	0.0216	5008	,	,		13249	0.0		0.0288	False		,,,				2504	0.001				p.R77H		Atlas-SNP	.											.	BCAM	53	.	0			c.G230A	GRCh37	CM973375	BCAM	M	rs28399653	PASS	.	G	HIS/ARG,HIS/ARG	124,4242		0,124,2059	11	14	13	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	230,230	-0.1	1	19	dbSNP_125	13	277,8273		7,263,4005	yes	missense,missense	BCAM	NM_001013257.1,NM_005581.3	29,29	7,387,6064	AA,AG,GG		3.2398,2.8401,3.1047	probably-damaging,probably-damaging	77/589,77/629	45315445	401,12515	2183	4275	6458	SO:0001583	missense	4059	exon3			GCCCCCGCCTAGC	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.230G>A	19.37:g.45315445G>A	ENSP00000270233:p.Arg77His	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	50	34	0.68	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	40	0.018315018315018316	8	0.016260162601626018	10	0.027624309392265192	0	0.0	22	0.029023746701846966	.	15.79	2.936247	0.52972	0.028401	0.032398	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.27890	1.64;1.64	3.58	-0.142	0.13448	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06005	0.0156	L	0.29908	0.895	0.34224	D	0.675761	B	0.22346	0.068	B	0.12156	0.007	T	0.14839	-1.0458	9	0.35671	T	0.21	-11.2605	5.2337	0.15436	0.0:0.1786:0.3627:0.4587	rs28399653	77	P50895	BCAM_HUMAN	H	77	ENSP00000270233:R77H;ENSP00000375817:R77H	ENSP00000270233:R77H	R	+	2	0	BCAM	50007285	0.000000	0.05858	0.993000	0.49108	0.406000	0.30931	-1.971000	0.01503	0.232000	0.21100	0.313000	0.20887	CGC	G|0.977;A|0.023	0.023	strong		0.692	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45315445	G	A	45315445	3	1	23	1	0	0	0	0	1	0	0	0	1344	1087	38	1	240	1	BCAM	19	45315445	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	162332	45315445	13813538	4381	20837										
BCAM	4059	hgsc.bcm.edu	37	chr19	45316588	45316588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcagcgcctggaggtgcccGtagagatgaacccaggtgag	17	10	0	3	rs28399654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45316588G>A	ENST00000270233.6	+	5	608	c.586G>A	c.(586-588)Gta>Ata	p.V196I	BCAM_ENST00000589651.1_Missense_Mutation_p.V196I	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	196	Ig-like V-type 2.		V -> I (in dbSNP:rs28399654). {ECO:0000269|Ref.2}.		cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGAGGTGCCCGTAGAGATGAA	0.687													G|||	44	0.00878594	0.0015	0.0173	5008	,	,		15655	0.0		0.0288	False		,,,				2504	0.001				p.V196I		Atlas-SNP	.											.	BCAM	53	.	0			c.G586A						PASS	.	G	ILE/VAL,ILE/VAL	21,4385		0,21,2182	35	37	36		586,586	-4.5	0.7	19	dbSNP_125	36	290,8300		7,276,4012	yes	missense,missense	BCAM	NM_001013257.1,NM_005581.3	29,29	7,297,6194	AA,AG,GG		3.376,0.4766,2.393	benign,benign	196/589,196/629	45316588	311,12685	2203	4295	6498	SO:0001583	missense	4059	exon5			GTGCCCGTAGAGA	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.586G>A	19.37:g.45316588G>A	ENSP00000270233:p.Val196Ile	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	71	38	0.535211	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	31	0.014194139194139194	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	22	0.029023746701846966	.	1.290	-0.607948	0.03717	0.004766	0.03376	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.58940	0.3;0.33	4.48	-4.49	0.03504	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08980	0.0222	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09530	-1.0670	9	0.23302	T	0.38	-7.0325	0.2649	0.00223	0.2385:0.2871:0.1925:0.2819	rs28399654	196	P50895	BCAM_HUMAN	I	196	ENSP00000270233:V196I;ENSP00000375817:V196I	ENSP00000270233:V196I	V	+	1	0	BCAM	50008428	0.001000	0.12720	0.739000	0.30968	0.211000	0.24417	-0.426000	0.07008	-0.826000	0.04284	-0.379000	0.06801	GTA	G|0.983;A|0.017	0.017	strong		0.687	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45316588	G	A	45316588	3	1	23	1	0	0	0	0	1	0	0	0	1344	1145	40	1	604	1	BCAM	19	45316588	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1143	45316588	13812395	4382	20838										
TOMM40	10452	hgsc.bcm.edu	37	chr19	45397229	45397229	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccacagacccagcagtcGaagtttgtgaactggcaggt	11	11	1	2	rs1160983	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45397229G>A	ENST00000426677.2	+	5	729	c.549G>A	c.(547-549)tcG>tcA	p.S183S	TOMM40_ENST00000405636.2_Silent_p.S183S|TOMM40_ENST00000252487.5_Silent_p.S183S|TOMM40_ENST00000592434.1_Silent_p.S183S	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	183					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCCAGCAGTCGAAGTTTGTGA	0.652													G|||	269	0.0537141	0.0893	0.0216	5008	,	,		16952	0.0913		0.0298	False		,,,				2504	0.0143				p.S183S		Atlas-SNP	.											.	TOMM40	13	.	0			c.G549A						PASS	.	G	,,	393,4013	185.7+/-212.7	20,353,1830	50	49	50		549,549,549	-9.5	1	19	dbSNP_87	50	286,8314	103.8+/-164.8	5,276,4019	no	coding-synonymous,coding-synonymous,coding-synonymous	TOMM40	NM_001128916.1,NM_001128917.1,NM_006114.2	,,	25,629,5849	AA,AG,GG		3.3256,8.9197,5.2207	,,	183/362,183/362,183/362	45397229	679,12327	2203	4300	6503	SO:0001819	synonymous_variant	10452	exon5			GCAGTCGAAGTTT	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.549G>A	19.37:g.45397229G>A		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	114	51	0.447368	NM_001128917	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	CCDS12646.1																																																																																			G|0.950;A|0.050	0.050	strong		0.652	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			A	45397229	G	A	45397229	2	1	23	1	0	0	0	0	0	0	0	1	16355	1045	37	1		1	TOMM40	19	45397229	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	80641	45397229	13731754	4383	20839										
CKM	1158	hgsc.bcm.edu	37	chr19	45815163	45815163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttccctttgaactcgcccGtcaggctgttgagagctatg	10	12	1	2	rs17357122	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45815163G>A	ENST00000221476.3	-	5	671	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	166	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.		T -> M (in dbSNP:rs17357122).		cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GAACTCGCCCGTCAGGCTGTT	0.597													G|||	14	0.00279553	0.0015	0.0043	5008	,	,		15490	0.0		0.007	False		,,,				2504	0.002				p.T166M		Atlas-SNP	.											.	CKM	40	.	0			c.C497T						PASS	.	G	MET/THR	12,4394	19.1+/-41.9	0,12,2191	77	61	67		497	4.6	1	19	dbSNP_123	67	66,8534	40.8+/-97.7	0,66,4234	yes	missense	CKM	NM_001824.3	81	0,78,6425	AA,AG,GG		0.7674,0.2724,0.5997	possibly-damaging	166/382	45815163	78,12928	2203	4300	6503	SO:0001583	missense	1158	exon5			TCGCCCGTCAGGC	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.497C>T	19.37:g.45815163G>A	ENSP00000221476:p.Thr166Met	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	152	58	0.381579	NM_001824	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	CCDS12659.1	9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	g	17.70	3.454039	0.63290	0.002724	0.007674	ENSG00000104879	ENST00000221476	T	0.24151	1.87	4.64	4.64	0.57946	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.255179	0.38959	N	0.001515	T	0.32734	0.0839	M	0.84683	2.71	0.42644	D	0.99342	P	0.49185	0.92	P	0.45998	0.5	T	0.51164	-0.8740	10	0.72032	D	0.01	-36.3443	15.0589	0.71936	0.0:0.0:1.0:0.0	rs17357122;rs52824783;rs17357122	166	P06732	KCRM_HUMAN	M	166	ENSP00000221476:T166M	ENSP00000221476:T166M	T	-	2	0	CKM	50507003	0.984000	0.35163	0.997000	0.53966	0.892000	0.51952	2.104000	0.41815	2.421000	0.82119	0.556000	0.70494	ACG	G|0.995;A|0.005	0.005	strong		0.597	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			A	45815163	G	A	45815163	3	1	23	1	0	0	0	0	1	0	0	0	3448	1145	40	1	664	1	CKM	19	45815163	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	417934	45815163	13313820	4384	20840										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912002	45912002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggaagaagcccaaagggaAagaaaccttcgagccagaag	13	8	0	3	rs735482	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45912002A>C	ENST00000309424.3	+	3	1264	c.776A>C	c.(775-777)aAa>aCa	p.K259T	CD3EAP_ENST00000589804.1_Missense_Mutation_p.K261T|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	259			K -> T (in dbSNP:rs735482).		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)		CCCAAAGGGAAAGAAACCTTC	0.547													C|||	1436	0.286741	0.3109	0.2233	5008	,	,		15739	0.4613		0.1322	False		,,,				2504	0.2781				p.K259T		Atlas-SNP	.											.	CD3EAP	27	.	0			c.A776C						PASS	.	C	,,THR/LYS	1193,3213	689.1+/-405.1	169,855,1179	67	70	69		,,776	-1.8	0	19	dbSNP_86	69	1160,7440	741.9+/-407.2	81,998,3221	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,78	250,1853,4400	CC,CA,AA		13.4884,27.0767,18.0917	,,benign	,,259/511	45912002	2353,10653	2203	4300	6503	SO:0001583	missense	10849	exon3			AAGGGAAAGAAAC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.776A>C	19.37:g.45912002A>C	ENSP00000310966:p.Lys259Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	18	0.382979	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	570	0.260989010989011	131	0.266260162601626	72	0.19889502762430938	259	0.4527972027972028	108	0.1424802110817942	C	8.088	0.773935	0.16051	0.270767	0.134884	ENSG00000117877	ENST00000309424	T	0.11495	2.77	5.06	-1.76	0.08006	.	0.717583	0.12315	N	0.479769	T	0.00012	0.0000	N	0.00621	-1.32	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42749	-0.9433	9	0.14656	T	0.56	0.2029	1.8433	0.03154	0.1195:0.3621:0.259:0.2595	rs735482;rs61340218;rs735482	261;259	O15446-2;O15446	.;RPA34_HUMAN	T	259	ENSP00000310966:K259T	ENSP00000310966:K259T	K	+	2	0	CD3EAP	50603842	0.006000	0.16342	0.007000	0.13788	0.245000	0.25701	0.192000	0.17096	-0.095000	0.12351	-0.217000	0.12591	AAA	A|0.771;C|0.229	0.229	strong		0.547	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		C	45912002	A	C	45912002	3	2	23	1	0	0	0	0	1	0	0	0	3012	14	1	5	786	5	CD3EAP	19	45912002	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	96839	45912002	13216981	4385	20841										
CD3EAP	10849	hgsc.bcm.edu	37	chr19	45912343	45912343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcaacagccagaaggagcgAagcctcaggcccaggcagct	12	14	2	1	rs762562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45912343A>G	ENST00000309424.3	+	3	1605	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CD3EAP_ENST00000589804.1_Missense_Mutation_p.K375E|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	373			K -> E (in dbSNP:rs762562).		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)		AGAAGGAGCGAAGCCTCAGGC	0.617													G|||	1436	0.286741	0.3109	0.2233	5008	,	,		16994	0.4613		0.1322	False		,,,				2504	0.2781				p.K373E		Atlas-SNP	.											CD3EAP,NS,carcinoma,0,1	CD3EAP	27	1	0			c.A1117G						PASS	.	G	,,GLU/LYS	1183,3221		168,847,1187	39	48	45		,,1117	1.6	0	19	dbSNP_86	45	1150,7450		79,992,3229	yes	utr-3,utr-3,missense	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,56	247,1839,4416	GG,GA,AA		13.3721,26.8619,17.9406	,,benign	,,373/511	45912343	2333,10671	2202	4300	6502	SO:0001583	missense	10849	exon3			GGAGCGAAGCCTC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1117A>G	19.37:g.45912343A>G	ENSP00000310966:p.Lys373Glu	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	38	13	0.342105	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	570	0.260989010989011	131	0.266260162601626	72	0.19889502762430938	259	0.4527972027972028	108	0.1424802110817942	G	1.401	-0.578050	0.03854	0.268619	0.133721	ENSG00000117877	ENST00000309424	T	0.09911	2.93	5.4	1.59	0.23543	.	0.794983	0.10950	N	0.616167	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47071	-0.9145	9	0.02654	T	1	-2.1051	5.1222	0.14865	0.3446:0.1515:0.5039:0.0	rs762562;rs56437955;rs60195558;rs762562	375;373	O15446-2;O15446	.;RPA34_HUMAN	E	373	ENSP00000310966:K373E	ENSP00000310966:K373E	K	+	1	0	CD3EAP	50604183	0.005000	0.15991	0.000000	0.03702	0.013000	0.08279	0.970000	0.29383	0.267000	0.21916	-0.215000	0.12644	AAG	A|0.774;G|0.226	0.226	strong		0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		G	45912343	A	G	45912343	3	3	23	1	0	0	0	0	1	0	0	0	3012	247	9	2	1127	2	CD3EAP	19	45912343	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	341	45912343	13216640	4386	20842										
RTN2	6253	hgsc.bcm.edu	37	chr19	45998247	45998247	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtgcagctctcgaaaatcAgagtcgtcgttccctcctgc	10	13	2	1	rs10401270	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:45998247A>G	ENST00000245923.4	-	3	331	c.96T>C	c.(94-96)tcT>tcC	p.S32S	PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.S32S|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	32					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CTCGAAAATCAGAGTCGTCGT	0.627													G|||	765	0.152756	0.1505	0.1326	5008	,	,		16502	0.2183		0.0984	False		,,,				2504	0.1585				p.S32S		Atlas-SNP	.											.	RTN2	45	.	0			c.T96C						PASS	.		,	638,3768	766.2+/-413.4	58,522,1623	69	67	68		96,96	-10.9	0	19	dbSNP_119	68	889,7711	777.0+/-407.7	51,787,3462	no	coding-synonymous,coding-synonymous	RTN2	NM_005619.3,NM_206900.1	,	109,1309,5085	GG,GA,AA		10.3372,14.4803,11.7407	,	32/546,32/473	45998247	1527,11479	2203	4300	6503	SO:0001819	synonymous_variant	6253	exon3			AAAATCAGAGTCG	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.96T>C	19.37:g.45998247A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	59	57	0.966102	NM_206900	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	CCDS12665.1																																																																																			A|0.870;G|0.130	0.130	strong		0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		G	45998247	A	G	45998247	2	3	23	1	0	0	0	0	0	0	0	1	13726	175	7	3		3	RTN2	19	45998247	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	85904	45998247	13130736	4387	20843										
QPCTL	54814	hgsc.bcm.edu	37	chr19	46202131	46202131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccacttccctcgcacggtcCgctggttccatcggctgagg	12	16	0	1	rs145016874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46202131C>T	ENST00000012049.5	+	5	1080	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	QPCTL_ENST00000366382.4_Missense_Mutation_p.R193C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	287					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCGCACGGTCCGCTGGTTCCA	0.617													C|||	3	0.000599042	0.0	0.0	5008	,	,		15872	0.0		0.002	False		,,,				2504	0.001				p.R287C		Atlas-SNP	.											.	QPCTL	24	.	0			c.C859T						PASS	.	C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	81	80	81		577,859	3.8	1	19	dbSNP_134	81	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	QPCTL	NM_001163377.1,NM_017659.3	180,180	0,13,6490	TT,TC,CC		0.1279,0.0454,0.1	probably-damaging,probably-damaging	193/289,287/383	46202131	13,12993	2203	4300	6503	SO:0001583	missense	54814	exon5			ACGGTCCGCTGGT	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.859C>T	19.37:g.46202131C>T	ENSP00000012049:p.Arg287Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	92	45	0.48913	NM_017659	Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	CCDS12672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.33	3.362347	0.61403	4.54E-4	0.001279	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.51071	0.72;0.72	5.93	3.83	0.44106	Peptidase M28 (1);	0.342596	0.33772	N	0.004570	T	0.63212	0.2492	M	0.88450	2.955	0.58432	D	0.999993	D	0.71674	0.998	P	0.56700	0.804	T	0.64580	-0.6374	10	0.39692	T	0.17	-1.3625	8.816	0.34996	0.0:0.8542:0.0:0.1458	.	287	Q9NXS2	QPCTL_HUMAN	C	287;193	ENSP00000012049:R287C;ENSP00000387944:R193C	ENSP00000012049:R287C	R	+	1	0	QPCTL	50893971	0.932000	0.31603	0.997000	0.53966	0.627000	0.37826	1.506000	0.35747	2.826000	0.97356	0.655000	0.94253	CGC	C|0.999;T|0.001	0.001	strong		0.617	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		T	46202131	C	T	46202131	3	4	23	1	0	0	0	0	1	0	0	0	12875	652	23	1	877	1	QPCTL	19	46202131	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	203884	46202131	12926852	4388	20844										
DMPK	1760	hgsc.bcm.edu	37	chr19	46273740	46273740	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccggagtcgaagacagttcTagggttcagggagcgcgggc	17	10	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46273740T>C	ENST00000291270.4	-	0	2021				DMPK_ENST00000600757.1_Nonstop_Mutation_p.*636W|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_3'UTR|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000317578.6_5'Flank|DMPK_ENST00000458663.2_Nonstop_Mutation_p.*626W|AC074212.5_ENST00000559756.1_RNA|DMPK_ENST00000343373.4_3'UTR|DMPK_ENST00000447742.2_3'UTR|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000591530.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AAGACAGTTCTAGGGTTCAGG	0.716											OREG0025561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.X626W	Esophageal Squamous(35;307 869 9153 24033 28903)	Atlas-SNP	.											.	DMPK	74	.	0			c.A1877G						PASS	.						7	8	8					19																	46273740		1840	3549	5389	SO:0001624	3_prime_UTR_variant	1760	exon15			CAGTTCTAGGGTT	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.*6A>G	19.37:g.46273740T>C		Somatic	157	0	0	938	WXS	Illumina HiSeq	Phase_I	95	45	0.473684	NM_001081562	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	t	17.91	3.504333	0.64410	.	.	ENSG00000104936	ENST00000458663	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3258	0.37993	0.0:0.0:0.0:1.0	.	.	.	.	W	626	.	.	X	-	2	0	DMPK	50965580	1.000000	0.71417	0.967000	0.41034	0.514000	0.34195	1.865000	0.39479	1.712000	0.51347	0.454000	0.30748	TAG	.	.	none		0.716	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		C	46273740	T	C	46273740	1	2	23	0	1	0	0	0	0	0	0	0	4584	1535	53	3		3	DMPK	19	46273740	3'UTR	SNP	T	TCGA-GR-7353-01A-11D-2210-10	71609	46273740	12855243	4389	20845										
DMWD	1762	hgsc.bcm.edu	37	chr19	46289009	46289009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggatgcgcgggcacagcGcagtgcccagcaccttggcg	16	14	0	0	rs146577305	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46289009G>A	ENST00000270223.6	-	3	1790	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	AC011530.4_ENST00000593999.1_Missense_Mutation_p.R75C|DMWD_ENST00000377735.3_Missense_Mutation_p.A582V|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	582										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGGGCACAGCGCAGTGCCCAG	0.697													G|||	26	0.00519169	0.0	0.0058	5008	,	,		14380	0.0		0.0159	False		,,,				2504	0.0061				p.A582V		Atlas-SNP	.											.	DMWD	46	.	0			c.C1745T						PASS	.	G	VAL/ALA	21,4375		0,21,2177	20	24	23		1745	4.3	0.1	19	dbSNP_134	23	226,8364		2,222,4071	yes	missense	DMWD	NM_004943.1	64	2,243,6248	AA,AG,GG		2.631,0.4777,1.902	possibly-damaging	582/675	46289009	247,12739	2198	4295	6493	SO:0001583	missense	1762	exon3			CACAGCGCAGTGC	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1745C>T	19.37:g.46289009G>A	ENSP00000270223:p.Ala582Val	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	102	51	0.5	NM_004943		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	12	0.005494505494505495	0	0.0	3	0.008287292817679558	0	0.0	9	0.011873350923482849	G	17.93	3.509977	0.64522	0.004777	0.02631	ENSG00000185800	ENST00000377735;ENST00000270223	D;D	0.81996	-1.56;-1.56	4.29	4.29	0.51040	.	0.067052	0.64402	D	0.000014	T	0.67674	0.2918	L	0.29908	0.895	0.38820	D	0.955606	P;D;D	0.58620	0.832;0.983;0.972	B;P;P	0.60012	0.371;0.867;0.74	T	0.81247	-0.1019	10	0.66056	D	0.02	-23.9487	14.6065	0.68483	0.0:0.0:1.0:0.0	.	267;582;582	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	V	582	ENSP00000366964:A582V;ENSP00000270223:A582V	ENSP00000270223:A582V	A	-	2	0	DMWD	50980849	0.996000	0.38824	0.083000	0.20561	0.256000	0.26092	7.191000	0.77763	2.402000	0.81655	0.462000	0.41574	GCG	G|0.986;A|0.014	0.014	strong		0.697	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		A	46289009	G	A	46289009	3	1	23	1	0	0	0	0	1	0	0	0	4593	1087	38	1	291	1	DMWD	19	46289009	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	15269	46289009	12839974	4390	20846										
RSPH6A	81492	hgsc.bcm.edu	37	chr19	46318312	46318312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggtatctgctgcctctcCtcggggtccgctgccagggc	15	14	2	0	rs45598433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46318312C>T	ENST00000221538.3	-	1	265	c.123G>A	c.(121-123)gaG>gaA	p.E41E	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Silent_p.E41E	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	41						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCTGCCTCTCCTCGGGGTCCG	0.677													C|||	22	0.00439297	0.0008	0.0058	5008	,	,		14993	0.0		0.0129	False		,,,				2504	0.0041				p.E41E		Atlas-SNP	.											.	RSPH6A	70	.	0			c.G123A						PASS	.	C		14,4392	20.2+/-43.8	0,14,2189	40	41	40		123	1.7	0	19	dbSNP_127	40	188,8412	80.4+/-143.0	1,186,4113	no	coding-synonymous	RSPH6A	NM_030785.3		1,200,6302	TT,TC,CC		2.186,0.3177,1.5531		41/718	46318312	202,12804	2203	4300	6503	SO:0001819	synonymous_variant	81492	exon1			CCTCTCCTCGGGG	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.123G>A	19.37:g.46318312C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	79	42	0.531646	NM_030785	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																			C|0.987;T|0.013	0.013	strong		0.677	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			T	46318312	C	T	46318312	2	4	23	1	0	0	0	0	0	0	0	1	13707	680	24	2		2	RSPH6A	19	46318312	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29303	46318312	12810671	4391	20847										
HIF3A	64344	hgsc.bcm.edu	37	chr19	46823803	46823803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagaaggacacccctaacCctggggacagccttggtatg	11	13	1	1	rs61755707	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46823803C>T	ENST00000377670.4	+	9	1160	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	HIF3A_ENST00000600383.1_Missense_Mutation_p.P308S|HIF3A_ENST00000420102.2_Missense_Mutation_p.P326S|HIF3A_ENST00000339613.2_Missense_Mutation_p.P321S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P375S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.P308S|HIF3A_ENST00000472815.1_Missense_Mutation_p.P308S	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	377					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CACCCCTAACCCTGGGGACAG	0.647													C|||	51	0.0101837	0.0008	0.0072	5008	,	,		16574	0.0		0.0378	False		,,,				2504	0.0072				p.P377S		Atlas-SNP	.											.	HIF3A	154	.	0			c.C1129T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	22,4384	28.1+/-56.4	0,22,2181	54	52	53		922,1123,1129,922	1	0	19	dbSNP_129	53	245,8355	97.2+/-158.9	4,237,4059	yes	missense,missense,missense,missense	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	74,74,74,74	4,259,6240	TT,TC,CC		2.8488,0.4993,2.0529	benign,benign,benign,benign	308/601,375/668,377/670,308/451	46823803	267,12739	2203	4300	6503	SO:0001583	missense	64344	exon9			CCTAACCCTGGGG	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1129C>T	19.37:g.46823803C>T	ENSP00000366898:p.Pro377Ser	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	34	15	0.441176	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	32|32	0.014652014652014652|0.014652014652014652	0|0	0.0|0.0	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	29|29	0.03825857519788918|0.03825857519788918	C|C	4.392|4.392	0.072291|0.072291	0.08436|0.08436	0.004993|0.004993	0.028488|0.028488	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.66460	.|0.46;-0.19;0.36;0.48;-0.21	4.47|4.47	1.03|1.03	0.20045|0.20045	.|.	1.425250|1.425250	0.04795|0.04795	N|N	0.432421|0.432421	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.10296	.|0.0;0.0;0.001;0.0;0.001;0.001;0.003	.|B;B;B;B;B;B;B	.|0.09377	.|0.0;0.001;0.004;0.001;0.002;0.002;0.002	T|T	0.13019|0.13019	-1.0525|-1.0525	6|10	.|0.33141	.|T	.|0.24	.|.	6.6607|6.6607	0.23012|0.23012	0.0:0.7019:0.0:0.2981|0.0:0.7019:0.0:0.2981	rs61755707|rs61755707	.|326;308;375;326;321;377;377	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	L|S	349|377;377;308;321;321;375;326	.|ENSP00000366898:P377S;ENSP00000244303:P308S;ENSP00000341877:P321S;ENSP00000300862:P375S;ENSP00000407771:P326S	.|ENSP00000244302:P377S	P|P	+|+	2|1	0|0	HIF3A|HIF3A	51515643|51515643	0.009000|0.009000	0.17119|0.17119	0.037000|0.037000	0.18230|0.18230	0.299000|0.299000	0.27559|0.27559	0.005000|0.005000	0.13129|0.13129	0.203000|0.203000	0.20529|0.20529	-0.459000|-0.459000	0.05422|0.05422	CCC|CCT	C|0.981;T|0.019	0.019	strong		0.647	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			T	46823803	C	T	46823803	3	4	23	1	0	0	0	0	1	0	0	0	7105	623	22	2	1187	2	HIF3A	19	46823803	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	505491	46823803	12305180	4392	20848										
CCDC8	83987	hgsc.bcm.edu	37	chr19	46915091	46915091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcagcctctgccccctggTcagctggggcccctgccctc	11	20	2	0	rs74516985	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:46915091T>C	ENST00000307522.3	-	1	1750	c.977A>G	c.(976-978)gAc>gGc	p.D326G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	326					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCCCTGGTCAGCTGGGGC	0.622													T|||	55	0.0109824	0.0	0.0043	5008	,	,		17258	0.0		0.0447	False		,,,				2504	0.0072				p.D326G		Atlas-SNP	.											CCDC8,NS,haematopoietic_neoplasm,0,1	CCDC8	56	1	0			c.A977G						PASS	.	T	GLY/ASP	28,4378	34.3+/-65.2	0,28,2175	89	95	93		977	-1.2	0	19	dbSNP_131	93	259,8341	97.9+/-159.5	3,253,4044	yes	missense	CCDC8	NM_032040.3	94	3,281,6219	CC,CT,TT		3.0116,0.6355,2.2067	benign	326/539	46915091	287,12719	2203	4300	6503	SO:0001583	missense	83987	exon1			CCCTGGTCAGCTG	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.977A>G	19.37:g.46915091T>C	ENSP00000303158:p.Asp326Gly	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	185	103	0.556757	NM_032040	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	36|36	0.016483516483516484|0.016483516483516484	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	36|36	0.047493403693931395|0.047493403693931395	T|T	11.57|11.57	1.676642|1.676642	0.29783|0.29783	0.006355|0.006355	0.030116|0.030116	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.12039|.	2.72|.	4.21|4.21	-1.2|-1.2	0.09554|0.09554	.|.	0.805863|.	0.10411|.	N|.	0.677845|.	T|T	0.02304|0.02304	0.0071|0.0071	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.20174|0.20174	-1.0283|-1.0283	10|6	0.41790|0.02654	T|T	0.15|1	1.4359|1.4359	4.006|4.006	0.09602|0.09602	0.1575:0.3231:0.0:0.5194|0.1575:0.3231:0.0:0.5194	.|.	326|.	Q9H0W5|.	CCDC8_HUMAN|.	G|A	326|173	ENSP00000303158:D326G|.	ENSP00000303158:D326G|ENSP00000441180:T173A	D|T	-|-	2|1	0|0	CCDC8|CCDC8	51606931|51606931	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.070000|0.070000	0.16714|0.16714	-0.876000|-0.876000	0.04201|0.04201	-0.051000|-0.051000	0.13334|0.13334	0.402000|0.402000	0.26972|0.26972	GAC|ACC	T|0.980;C|0.020	0.020	strong		0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		C	46915091	T	C	46915091	3	2	23	1	0	0	0	0	1	0	0	0	2853	1667	58	2	643	2	CCDC8	19	46915091	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	91288	46915091	12213892	4393	20849										
SLC1A5	6510	hgsc.bcm.edu	37	chr19	47282162	47282162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacatgatgcccacaggggcGtacctgatcagtaacacagg	11	11	1	2	rs2070246	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:47282162G>A	ENST00000542575.2	-	5	1456	c.828C>T	c.(826-828)taC>taT	p.Y276Y	SLC1A5_ENST00000412532.2_Silent_p.Y48Y|SLC1A5_ENST00000594991.1_Silent_p.Y100Y|SLC1A5_ENST00000434726.2_Silent_p.Y74Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	276					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCACAGGGGCGTACCTGATCA	0.582													G|||	1673	0.334065	0.4463	0.4294	5008	,	,		17783	0.2629		0.2177	False		,,,				2504	0.3078				p.Y276Y		Atlas-SNP	.											.	SLC1A5	31	.	0			c.C828T						PASS	.	G	,,	1896,2510	542.8+/-376.1	408,1080,715	132	111	118		144,222,828	-2.2	0.8	19	dbSNP_96	118	1778,6822	320.3+/-314.5	199,1380,2721	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC1A5	NM_001145144.1,NM_001145145.1,NM_005628.2	,,	607,2460,3436	AA,AG,GG		20.6744,43.0322,28.2485	,,	48/314,74/340,276/542	47282162	3674,9332	2203	4300	6503	SO:0001819	synonymous_variant	6510	exon5			AGGGGCGTACCTG	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.828C>T	19.37:g.47282162G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	99	56	0.565657	NM_005628	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	CCDS12692.1																																																																																			G|0.704;A|0.296	0.296	strong		0.582	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			A	47282162	G	A	47282162	2	1	23	1	0	0	0	0	0	0	0	1	14435	1140	40	1		1	SLC1A5	19	47282162	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	367071	47282162	11846821	4394	20850										
SAE1	10055	hgsc.bcm.edu	37	chr19	47700542	47700542	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcccagttctgatacataTgaggaagattctgagttgtt	10	6	2	4	rs117605411	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:47700542T>C	ENST00000270225.7	+	7	854	c.786T>C	c.(784-786)taT>taC	p.Y262Y	SAE1_ENST00000392776.3_Intron|SAE1_ENST00000540850.1_Silent_p.Y88Y|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000598840.1_Silent_p.Y181Y	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	262					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CTGATACATATGAGGAAGATT	0.408													T|||	23	0.00459265	0.0	0.0014	5008	,	,		19443	0.001		0.005	False		,,,				2504	0.0164				p.Y262Y		Atlas-SNP	.											.	SAE1	50	.	0			c.T786C						PASS	.	T	,,	9,4397	14.3+/-33.2	0,9,2194	213	193	200		,,786	-4.8	0	19	dbSNP_132	200	27,8573	19.2+/-60.6	0,27,4273	no	intron,intron,coding-synonymous	SAE1	NM_001145713.1,NM_001145714.1,NM_005500.2	,,	0,36,6467	CC,CT,TT		0.314,0.2043,0.2768	,,	,,262/347	47700542	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	10055	exon7			TACATATGAGGAA	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.786T>C	19.37:g.47700542T>C		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	190	74	0.389474	NM_005500	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	ENST00000270225.7	37	CCDS12696.1																																																																																			T|0.997;C|0.003	0.003	strong		0.408	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		C	47700542	T	C	47700542	2	2	23	1	0	0	0	0	0	0	0	1	13805	1471	51	2		2	SAE1	19	47700542	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	418380	47700542	11428441	4395	20851										
CCDC9	26093	hgsc.bcm.edu	37	chr19	47774358	47774358	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaccatgatgaccgctggGagacaaaagaaggggcagca	15	8	0	5			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:47774358G>C	ENST00000221922.6	+	11	1327	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	369							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		TGACCGCTGGGAGACAAAAGA	0.622																																					p.E369Q		Atlas-SNP	.											.	CCDC9	37	.	0			c.G1105C						PASS	.						35	35	35					19																	47774358		2198	4285	6483	SO:0001583	missense	26093	exon11			CGCTGGGAGACAA	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1105G>C	19.37:g.47774358G>C	ENSP00000221922:p.Glu369Gln	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	145	72	0.496552	NM_015603		Missense_Mutation	SNP	ENST00000221922.6	37	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.122654	0.37436	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.58358	0.34	4.34	4.34	0.51931	.	0.059852	0.64402	D	0.000005	T	0.69043	0.3067	M	0.69823	2.125	0.45025	D	0.998043	D	0.67145	0.996	D	0.75484	0.986	T	0.72080	-0.4398	10	0.62326	D	0.03	-22.8191	12.1997	0.54317	0.0:0.0:1.0:0.0	.	369	Q9Y3X0	CCDC9_HUMAN	Q	369;351	ENSP00000221922:E369Q	ENSP00000221922:E369Q	E	+	1	0	CCDC9	52466198	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	2.962000	0.49176	2.213000	0.71641	0.305000	0.20034	GAG	.	.	none		0.622	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		C	47774358	G	C	47774358	3	2	23	1	0	0	0	0	1	0	0	0	2867	1175	41	4	1143	4	CCDC9	19	47774358	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	73816	47774358	11354625	4396	20852										
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48248834	48248834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagatggcggcaggaggcagTggcgttggtgggaagcgcag	21	6	0	1	rs10404034	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:48248834T>C	ENST00000246802.5	+	1	56	c.18T>C	c.(16-18)agT>agC	p.S6S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	6						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAGGAGGCAGTGGCGTTGGTG	0.642													T|||	301	0.0601038	0.0091	0.062	5008	,	,		11421	0.0089		0.1382	False		,,,				2504	0.1002				p.S6S	Colon(58;613 1041 9473 10089 15241)	Atlas-SNP	.											.	GLTSCR2	45	.	0			c.T18C						PASS	.	T		171,4235	114.2+/-152.2	5,161,2037	91	103	99		18	-4.3	0	19	dbSNP_119	99	1230,7370	247.2+/-275.4	89,1052,3159	no	coding-synonymous	GLTSCR2	NM_015710.4		94,1213,5196	CC,CT,TT		14.3023,3.8811,10.772		6/479	48248834	1401,11605	2203	4300	6503	SO:0001819	synonymous_variant	29997	exon1			AGGCAGTGGCGTT	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.18T>C	19.37:g.48248834T>C		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	124	58	0.467742	NM_015710	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1																																																																																			A|0.000;C|0.097;T|0.903	0.097	strong		0.642	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		C	48248834	T	C	48248834	2	2	23	1	0	0	0	0	0	0	0	1	6475	1693	59	2		2	GLTSCR2	19	48248834	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	474476	48248834	10880149	4397	20853										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48598823	48598823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaaaggcccccagtgcagAgaagccagcgtggtgagggg	16	10	0	2	rs156631	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:48598823A>G	ENST00000599921.1	-	7	964	c.607T>C	c.(607-609)Tct>Cct	p.S203P	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.S213P|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.S203P|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.S203P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	203	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		S -> P (in dbSNP:rs156631). {ECO:0000269|PubMed:10085124, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCCAGTGCAGAGAAGCCAGCG	0.527													G|||	3151	0.629193	0.7784	0.5014	5008	,	,		19060	0.8681		0.3797	False		,,,				2504	0.5286				p.S213P		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.T637C						PASS	.	G	PRO/SER,PRO/SER,PRO/SER	3143,1263	432.6+/-343.3	1133,877,193	117	134	128		637,607,607	2.2	0.8	19	dbSNP_79	128	3215,5385	652.3+/-400.9	591,2033,1676	yes	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	74,74,74	1724,2910,1869	GG,GA,AA		37.3837,28.6655,48.8851	benign,benign,benign	213/552,203/528,203/542	48598823	6358,6648	2203	4300	6503	SO:0001583	missense	8605	exon7			GTGCAGAGAAGCC	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.607T>C	19.37:g.48598823A>G	ENSP00000469473:p.Ser203Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	100	49	0.49	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	1350	0.6181318681318682	380	0.7723577235772358	184	0.5082872928176796	503	0.8793706293706294	283	0.3733509234828496	G	0.020	-1.436880	0.01098	0.713345	0.373837	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04119	3.7;3.7	3.31	2.22	0.28083	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.167772	0.39985	N	0.001211	T	0.00012	0.0000	N	0.00327	-1.64	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.11767	-1.0574	9	0.13470	T	0.59	-6.9264	6.3932	0.21599	0.2736:0.0:0.7264:0.0	rs156631;rs3745739;rs17358791;rs56790404;rs156631	203	Q9UP65	PA24C_HUMAN	P	203	ENSP00000346228:S203P;ENSP00000400036:S203P	ENSP00000346228:S203P	S	-	1	0	PLA2G4C	53290635	0.974000	0.33945	0.765000	0.31456	0.483000	0.33249	0.859000	0.27858	0.506000	0.28125	-0.971000	0.02607	TCT	T|0.003;G|0.559	0.559	strong		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			G	48598823	A	G	48598823	3	3	23	1	0	0	0	0	1	0	0	0	12003	304	11	3	1066	3	PLA2G4C	19	48598823	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	349989	48598823	10530160	4398	20854										
CARD8	22900	hgsc.bcm.edu	37	chr19	48735017	48735018	+	Frame_Shift_Ins	INS	-	-	TT													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcgatctcaaaacagacINStttagaagcataagaggaaa					rs146319637|rs140826611	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:48735017_48735018insTT	ENST00000359009.4	-	4	438_439	c.126_127insAA	c.(124-129)aaagtcfs	p.V43fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.V98fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.V98fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.V98fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCAAAACAGACTTTAGAAGCAT	0.376														211	0.0421326	0.0023	0.0274	5008	,	,		21883	0.0575		0.0527	False		,,,				2504	0.0798				p.V148fs		Pindel,Atlas-Indel	.											.	CARD8	53	.	0			c.442_443insAA						PASS	.		,,,,	47,4217		0,47,2085					,,,,	-0.7	0		dbSNP_134	104	487,7767		16,455,3656	yes	frameshift,frameshift,frameshift,frameshift,frameshift	CARD8	NM_014959.3,NM_001184903.1,NM_001184902.1,NM_001184901.1,NM_001184900.1	,,,,	16,502,5741	A1A1,A1R,RR		5.9002,1.1023,4.2659	,,,,	,,,,		534,11984				SO:0001589	frameshift_variant	22900	exon5			.	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.125_126dupAA	19.37:g.48735018_48735019dupTT	ENSP00000351901:p.Val43fs	Somatic	87	.	.		WXS	Illumina HiSeq	Phase_I	109	38	0.349	NM_001184900	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37																																																																																				-|0.962;TT|0.038	0.038	strong		0.376	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		TT	48735018	-	TT	48735017	7	5	23	1	0	1	1	0	0	0	0	0	2651	565	20	0	1199	0	CARD8	19	48735017	Frame_Shift_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	136194	48735017	10393966	4399	20855										
SYNGR4	23546	hgsc.bcm.edu	37	chr19	48879375	48879375	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctggcattccaggacctcCgaaatgatgctccagtccct	8	15	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:48879375C>T	ENST00000344846.2	+	5	755	c.505C>T	c.(505-507)Cga>Tga	p.R169*	SYNGR4_ENST00000601610.1_Missense_Mutation_p.P145L|SYNGR4_ENST00000595322.1_Missense_Mutation_p.P73L	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	169	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCAGGACCTCCGAAATGATGC	0.602																																					p.R169X		Atlas-SNP	.											SYNGR4,NS,carcinoma,-2,3	SYNGR4	31	3	0			c.C505T						PASS	.						104	98	100					19																	48879375		2203	4300	6503	SO:0001587	stop_gained	23546	exon5			GACCTCCGAAATG	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.505C>T	19.37:g.48879375C>T	ENSP00000344041:p.Arg169*	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	147	38	0.258503	NM_012451	Q3KP58	Nonsense_Mutation	SNP	ENST00000344846.2	37	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676643	0.96764	.	.	ENSG00000105467	ENST00000344846	.	.	.	5.61	4.55	0.56014	.	0.948152	0.08692	N	0.907770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6799	7.5531	0.27808	0.1663:0.7504:0.0:0.0833	.	.	.	.	X	169	.	ENSP00000344041:R169X	R	+	1	2	SYNGR4	53571187	0.522000	0.26266	0.855000	0.33649	0.846000	0.48090	0.827000	0.27421	1.480000	0.48289	0.555000	0.69702	CGA	.	.	none		0.602	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			T	48879375	C	T	48879375	4	4	23	1	0	0	0	0	0	1	0	0	15448	644	23	1	519	1	SYNGR4	19	48879375	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	144358	48879375	10249608	4400	20856										
GRIN2D	2906	hgsc.bcm.edu	37	chr19	48945044	48945044	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggaagctggacgccttcatCtacgatgctgcagtgctcaa	11	11	3	0	rs144676582	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:48945044C>T	ENST00000263269.3	+	11	2359	c.2271C>T	c.(2269-2271)atC>atT	p.I757I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	757					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGCCTTCATCTACGATGCTG	0.617													C|||	6	0.00119808	0.0	0.0058	5008	,	,		20158	0.0		0.002	False		,,,				2504	0.0				p.I757I		Atlas-SNP	.											.	GRIN2D	76	.	0			c.C2271T						PASS	.	C		2,4404	4.2+/-10.8	0,2,2201	55	46	49		2271	2.5	1	19	dbSNP_134	49	29,8571	19.2+/-60.6	0,29,4271	no	coding-synonymous	GRIN2D	NM_000836.2		0,31,6472	TT,TC,CC		0.3372,0.0454,0.2384		757/1337	48945044	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	2906	exon11			CTTCATCTACGAT	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2271C>T	19.37:g.48945044C>T		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	102	48	0.470588	NM_000836		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																			C|0.998;T|0.002	0.002	strong		0.617	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48945044	C	T	48945044	2	4	23	1	0	0	0	0	0	0	0	1	6782	903	32	2		2	GRIN2D	19	48945044	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	65669	48945044	10183939	4401	20857										
SULT2B1	6820	hgsc.bcm.edu	37	chr19	49102605	49102610	+	In_Frame_Del	DEL	CCAGCC	CCAGCC	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgtgagcccagacccaactCcagccccagccccagccccg					rs16989366|rs535907004		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CCAGCC	CCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49102605_49102610delCCAGCC	ENST00000201586.2	+	7	1218_1223	c.1040_1045delCCAGCC	c.(1039-1047)tccagcccc>tcc	p.SP352del	SULT2B1_ENST00000323090.4_In_Frame_Del_p.SP337del	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	352	Pro/Ser-rich.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		agacccaactccagccccagccccag	0.66																																					p.347_348del		Pindel,Atlas-Indel	.											.	SULT2B1	72	.	0			c.1039_1044del						PASS	.		,	1,4133		0,1,2066					,	-3.9	0		dbSNP_126	21	16,8050		0,16,4017	no	coding,coding	SULT2B1	NM_177973.1,NM_004605.2	,	0,17,6083	A1A1,A1R,RR		0.1984,0.0242,0.1393	,	,		17,12183				SO:0001651	inframe_deletion	6820	exon7			.	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.1040_1045delCCAGCC	19.37:g.49102611_49102616delCCAGCC	ENSP00000201586:p.Ser352_Pro353del	Somatic	244	.	.		WXS	Illumina HiSeq	Phase_I	203	38	0.187	NM_177973	O00205|O75814	In_Frame_Del	DEL	ENST00000201586.2	37	CCDS12723.1																																																																																			.	.	none		0.66	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		-	49102610	CCAGCC	-	49102605	7	5	23	1	0	1	0	1	0	0	0	0	15379	855	30	0	1092	0	SULT2B1	19	49102605	In_Frame_Del	DEL	CCAGCC	TCGA-GR-7353-01A-11D-2210-10	157561	49102605	10026378	4402	20858										
FAM83E	54854	hgsc.bcm.edu	37	chr19	49106995	49106995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcggcgggacacgcggtgcGggctgcggccccgctgcagg	21	14	0	0	rs3745728	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49106995G>A	ENST00000263266.3	-	4	1121	c.932C>T	c.(931-933)cCg>cTg	p.P311L		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	311			P -> L (in dbSNP:rs3745728). {ECO:0000269|PubMed:14702039}.					p.P311L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACGCGGTGCGGGCTGCGGCC	0.776													G|||	914	0.182508	0.1316	0.1484	5008	,	,		6380	0.3333		0.1233	False		,,,				2504	0.181				p.P311L		Atlas-SNP	.											FAM83E,NS,NS,0,1	FAM83E	34	1	1	Substitution - Missense(1)	NS(1)	c.C932T						scavenged	.	G	LEU/PRO	319,3115		18,283,1416	4	4	4		932	2.7	0.5	19	dbSNP_107	4	790,6694		40,710,2992	no	missense	FAM83E	NM_017708.3	98	58,993,4408	AA,AG,GG		10.5559,9.2895,10.1575	probably-damaging	311/479	49106995	1109,9809	1717	3742	5459	SO:0001583	missense	54854	exon4			CGGTGCGGGCTGC	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.932C>T	19.37:g.49106995G>A	ENSP00000263266:p.Pro311Leu	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	7	2	0.285714	NM_017708	Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	CCDS42587.1	405	0.18543956043956045	68	0.13821138211382114	52	0.143646408839779	194	0.33916083916083917	91	0.12005277044854881	G	18.13	3.555078	0.65425	0.092895	0.105559	ENSG00000105523	ENST00000263266	T	0.11277	2.79	3.79	2.65	0.31530	.	11.390300	0.00166	N	0.000000	T	0.00012	0.0000	L	0.32530	0.975	0.29073	P	0.883177	D	0.69078	0.997	P	0.53035	0.716	T	0.36939	-0.9727	9	0.35671	T	0.21	-5.1491	9.7456	0.40444	0.0:0.2122:0.7878:0.0	rs3745728	311	Q2M2I3	FA83E_HUMAN	L	311	ENSP00000263266:P311L	ENSP00000263266:P311L	P	-	2	0	FAM83E	53798807	1.000000	0.71417	0.455000	0.27031	0.142000	0.21351	4.236000	0.58675	1.845000	0.53610	0.549000	0.68633	CCG	G|0.814;A|0.186	0.186	strong		0.776	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		A	49106995	G	A	49106995	3	1	23	1	0	0	0	0	1	0	0	0	5637	1116	39	1	512	1	FAM83E	19	49106995	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4390	49106995	10021988	4403	20859										
SPHK2	56848	hgsc.bcm.edu	37	chr19	49132634	49132634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccacctgctgcctccgctGggcaccccgctgcccccaga	10	21	0	1	rs3745733	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49132634G>A	ENST00000245222.4	+	7	1935	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SPHK2_ENST00000600537.1_Silent_p.L464L|SPHK2_ENST00000598088.1_Silent_p.L523L|SPHK2_ENST00000599029.1_Silent_p.L487L|SPHK2_ENST00000443164.1_Silent_p.L585L|SPHK2_ENST00000599748.1_Silent_p.L487L|SPHK2_ENST00000340932.3_Silent_p.L485L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	523					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)		TGCCTCCGCTGGGCACCCCGC	0.701													G|||	379	0.0756789	0.0272	0.0994	5008	,	,		12711	0.0714		0.1203	False		,,,				2504	0.0828				p.L523L		Atlas-SNP	.											SPHK2,NS,carcinoma,0,1	SPHK2	62	1	0			c.G1569A						PASS	.	G	,,,	176,4224		3,170,2027	20	23	22		1392,1569,1461,1569	-0.4	0.3	19	dbSNP_107	22	1188,7404		79,1030,3187	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	,,,	82,1200,5214	AA,AG,GG		13.8268,4.0,10.4988	,,,	464/596,523/655,487/619,523/655	49132634	1364,11628	2200	4296	6496	SO:0001819	synonymous_variant	56848	exon7			TCCGCTGGGCACC	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.1569G>A	19.37:g.49132634G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																			G|0.907;A|0.093	0.093	strong		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49132634	G	A	49132634	2	1	23	1	0	0	0	0	0	0	0	1	15046	1335	47	2		2	SPHK2	19	49132634	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25639	49132634	9996349	4404	20860										
NTN5	126147	hgsc.bcm.edu	37	chr19	49168005	49168005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaaccggcagcgtcgggcGtgctggttgcaggagcaggc	18	10	0	1	rs17851884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49168005G>A	ENST00000270235.4	-	3	746	c.651C>T	c.(649-651)caC>caT	p.H217H	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	217	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGCGTCGGGCGTGCTGGTTGC	0.662													G|||	235	0.0469249	0.0151	0.0591	5008	,	,		12172	0.001		0.1272	False		,,,				2504	0.046				p.H217H		Atlas-SNP	.											.	NTN5	27	.	0			c.C651T						PASS	.	G		135,4205		4,127,2039	10	11	10		651	-1.4	1	19	dbSNP_123	10	1001,7529		58,885,3322	no	coding-synonymous	NTN5	NM_145807.1		62,1012,5361	AA,AG,GG		11.7351,3.1106,8.8267		217/490	49168005	1136,11734	2170	4265	6435	SO:0001819	synonymous_variant	126147	exon3			TCGGGCGTGCTGG		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.651C>T	19.37:g.49168005G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	148	96	0.648649	NM_145807	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			G|0.937;A|0.063	0.063	strong		0.662	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		A	49168005	G	A	49168005	2	1	23	1	0	0	0	0	0	0	0	1	10703	1136	40	1		1	NTN5	19	49168005	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	35371	49168005	9960978	4405	20861										
FUT2	2524	hgsc.bcm.edu	37	chr19	49206603	49206603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcagaactaccacctgaaCgactggatggaggaggaata	13	8	0	2	rs281377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49206603C>T	ENST00000425340.2	+	2	507	c.390C>T	c.(388-390)aaC>aaT	p.N130N	FUT2_ENST00000391876.4_Silent_p.N130N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	130					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACCACCTGAACGACTGGATGG	0.642													C|||	2484	0.496006	0.2678	0.5115	5008	,	,		16532	0.8452		0.4722	False		,,,				2504	0.4581				p.N130N		Atlas-SNP	.											.	FUT2	30	.	0			c.C390T						PASS	.	C	,	1152,3252		158,836,1208	38	38	38	http://www.ncbi.nlm.nih.gov/pubmed?term	390,390	1.4	1	19	dbSNP_79	38	3767,4831		839,2089,1371	no	coding-synonymous,coding-synonymous	FUT2	NM_000511.5,NM_001097638.2	,	997,2925,2579	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	43.8125,26.158,37.8326	,	130/344,130/344	49206603	4919,8083	2202	4299	6501	SO:0001819	synonymous_variant	2524	exon2			CCTGAACGACTGG		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.390C>T	19.37:g.49206603C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	70	36	0.514286	NM_001097638	Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	CCDS33069.1																																																																																			C|0.559;T|0.441	0.441	strong		0.642	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		T	49206603	C	T	49206603	2	4	23	1	0	0	0	0	0	0	0	1	6104	535	19	1		1	FUT2	19	49206603	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38598	49206603	9922380	4406	20862										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49376582	49376582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgatgggcctcctcagccGcgcctggagccgcctgaggg	16	14	1	2	rs564196	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49376582G>A	ENST00000200453.5	+	2	361	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	31	Required for localization in the endoplasmic reticulum.		R -> H (in dbSNP:rs564196).		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCTCAGCCGCGCCTGGAGC	0.652													G|||	1372	0.273962	0.5325	0.2262	5008	,	,		16179	0.0873		0.1501	False		,,,				2504	0.2781				p.R31H		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.G92A						PASS	.	G	HIS/ARG	2111,2289		524,1063,613	25	28	27		92	2.2	0.9	19	dbSNP_83	27	1232,7358		75,1082,3138	yes	missense	PPP1R15A	NM_014330.3	29	599,2145,3751	AA,AG,GG		14.3423,47.9773,25.7352	probably-damaging	31/675	49376582	3343,9647	2200	4295	6495	SO:0001583	missense	23645	exon2			TCAGCCGCGCCTG	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.92G>A	19.37:g.49376582G>A	ENSP00000200453:p.Arg31His	Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	499	0.22847985347985347	249	0.5060975609756098	82	0.2265193370165746	54	0.0944055944055944	114	0.1503957783641161	G	17.76	3.468799	0.63625	0.479773	0.143423	ENSG00000087074	ENST00000200453	T	0.05996	3.36	4.28	2.16	0.27623	.	0.226254	0.28606	N	0.014748	T	0.00012	0.0000	L	0.43923	1.385	0.33266	P	0.43964800000000004	D	0.76494	0.999	P	0.57846	0.828	T	0.45264	-0.9273	9	0.72032	D	0.01	-4.0888	6.5741	0.22555	0.2149:0.0:0.7851:0.0	rs564196;rs564196	31	O75807	PR15A_HUMAN	H	31	ENSP00000200453:R31H	ENSP00000200453:R31H	R	+	2	0	PPP1R15A	54068394	0.865000	0.29922	0.897000	0.35233	0.378000	0.30076	1.188000	0.32102	0.758000	0.33059	0.561000	0.74099	CGC	G|0.729;A|0.271	0.271	strong		0.652	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49376582	G	A	49376582	3	1	23	1	0	0	0	0	1	0	0	0	12363	1087	38	1	94	1	PPP1R15A	19	49376582	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	169979	49376582	9752401	4407	20863										
PPP1R15A	23645	hgsc.bcm.edu	37	chr19	49377086	49377086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggacgatgaagaagctgTaaagaaagaagctcacagaa	13	5	1	5	rs611251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49377086T>C	ENST00000200453.5	+	2	865	c.596T>C	c.(595-597)gTa>gCa	p.V199A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	199	Glu-rich.		V -> A (in dbSNP:rs611251).		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAAGAAGCTGTAAAGAAAGAA	0.532													T|||	1368	0.273163	0.534	0.2262	5008	,	,		18625	0.0933		0.1521	False		,,,				2504	0.2638				p.V199A		Atlas-SNP	.											.	PPP1R15A	48	.	0			c.T596C						PASS	.	T	ALA/VAL	2102,2304	573.6+/-383.6	513,1076,614	149	161	157		596	0.4	0	19	dbSNP_83	157	1245,7355	249.3+/-276.6	74,1097,3129	yes	missense	PPP1R15A	NM_014330.3	64	587,2173,3743	CC,CT,TT		14.4767,47.7077,25.7343	probably-damaging	199/675	49377086	3347,9659	2203	4300	6503	SO:0001583	missense	23645	exon2			AAGCTGTAAAGAA	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.596T>C	19.37:g.49377086T>C	ENSP00000200453:p.Val199Ala	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	59	23	0.38983	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	513	0.2348901098901099	259	0.5264227642276422	81	0.22375690607734808	57	0.09965034965034965	116	0.15303430079155672	T	10.91	1.483851	0.26598	0.477077	0.144767	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04194	3.68	4.06	0.39	0.16275	.	1.686450	0.03645	N	0.240170	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	B	0.26363	0.147	B	0.19666	0.026	T	0.44159	-0.9346	9	0.02654	T	1	-1.0388	2.3232	0.04216	0.2168:0.2659:0.0:0.5173	rs611251;rs3177847;rs3826819;rs52819950;rs58000193;rs611251	199	O75807	PR15A_HUMAN	A	199;39;157	ENSP00000200453:V199A	ENSP00000200453:V199A	V	+	2	0	PPP1R15A	54068898	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.145000	0.16157	0.236000	0.21180	0.418000	0.28097	GTA	T|0.735;G|0.004	.	strong		0.532	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377086	T	C	49377086	3	2	23	1	0	0	0	0	1	0	0	0	12363	1638	57	2	598	2	PPP1R15A	19	49377086	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	504	49377086	9751897	4408	20864										
TULP2	7288	hgsc.bcm.edu	37	chr19	49391404	49391404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcttcgtgcctcatatggtCgctgtccgtgccaccctcgc	11	16	1	0	rs8112811	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49391404C>T	ENST00000221399.3	-	8	895	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	251			D -> N (in dbSNP:rs8112811).		visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTCATATGGTCGCTGTCCGTG	0.622													C|||	1076	0.214856	0.41	0.2017	5008	,	,		19229	0.0665		0.1262	False		,,,				2504	0.2045				p.D251N		Atlas-SNP	.											.	TULP2	60	.	0			c.G751A						PASS	.	C	ASN/ASP	1491,2915	474.6+/-357.0	251,989,963	94	63	73		751	-7.8	0	19	dbSNP_116	73	1028,7572	219.0+/-257.2	61,906,3333	yes	missense	TULP2	NM_003323.2	23	312,1895,4296	TT,TC,CC		11.9535,33.8402,19.368	benign	251/521	49391404	2519,10487	2203	4300	6503	SO:0001583	missense	7288	exon8			TATGGTCGCTGTC	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.751G>A	19.37:g.49391404C>T	ENSP00000221399:p.Asp251Asn	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	130	70	0.538462	NM_003323	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	423	0.1936813186813187	203	0.41260162601626016	74	0.20441988950276244	42	0.07342657342657342	104	0.13720316622691292	C	0.828	-0.746256	0.03065	0.338402	0.119535	ENSG00000104804	ENST00000221399;ENST00000518572	D;T	0.82433	-1.61;2.26	3.9	-7.8	0.01214	.	21.342800	0.00166	N	0.000000	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	P	0.34615	0.459	B	0.18871	0.023	T	0.08764	-1.0706	9	0.14656	T	0.56	5.8448	4.3174	0.11000	0.1014:0.4134:0.3042:0.181	rs8112811;rs17847565;rs52800287;rs59119925;rs8112811	251	O00295	TULP2_HUMAN	N	251;205	ENSP00000221399:D251N;ENSP00000428420:D205N	ENSP00000221399:D251N	D	-	1	0	TULP2	54083216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.866000	0.01647	-2.765000	0.00368	-1.113000	0.02065	GAC	C|0.790;T|0.210	0.210	strong		0.622	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		T	49391404	C	T	49391404	3	4	23	1	0	0	0	0	1	0	0	0	16771	884	31	1	835	1	TULP2	19	49391404	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14318	49391404	9737579	4409	20865										
FTL	2512	hgsc.bcm.edu	37	chr19	49469087	49469087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagccacttcttccgcgaaTtggccgaggagaagcgcgag	14	11	1	2	rs2230267	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49469087T>C	ENST00000331825.6	+	2	370	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	55	Catalytic site for iron oxidation.|Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTTCCGCGAATTGGCCGAGGA	0.582													T|||	2307	0.460663	0.4849	0.5	5008	,	,		19910	0.4246		0.5398	False		,,,				2504	0.3558				p.L55L		Atlas-SNP	.											.	FTL	19	.	0			c.T163C						PASS	.	T		2088,2318	571.8+/-383.2	512,1064,627	56	60	58		163	-2.2	0.8	19	dbSNP_98	58	4669,3931	602.4+/-394.5	1278,2113,909	no	coding-synonymous	FTL	NM_000146.3		1790,3177,1536	CC,CT,TT		45.7093,47.3899,48.0471		55/176	49469087	6757,6249	2203	4300	6503	SO:0001819	synonymous_variant	2512	exon2			CGCGAATTGGCCG	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.163T>C	19.37:g.49469087T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	90	51	0.566667	NM_000146	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	CCDS33070.1																																																																																			T|0.480;C|0.520	0.520	strong		0.582	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		C	49469087	T	C	49469087	2	2	23	1	0	0	0	0	0	0	0	1	6084	1490	52	2		2	FTL	19	49469087	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	77683	49469087	9659896	4410	20866										
GYS1	2997	hgsc.bcm.edu	37	chr19	49485548	49485548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccgagccaatgcctccagGaagacgtcagcacccttgtt	10	14	1	1	rs5464	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49485548G>A	ENST00000323798.3	-	7	1222	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GYS1_ENST00000541188.1_Silent_p.F262F|GYS1_ENST00000263276.6_Silent_p.F278F|GYS1_ENST00000540532.1_Missense_Mutation_p.S223F|GYS1_ENST00000544287.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGCCTCCAGGAAGACGTCAG	0.517													G|||	1275	0.254593	0.2943	0.2608	5008	,	,		17958	0.2183		0.2922	False		,,,				2504	0.1953				p.F342F		Atlas-SNP	.											.	GYS1	59	.	0			c.C1026T						PASS	.	G	,	1243,3163	431.0+/-342.8	197,849,1157	110	101	104		834,1026	4.2	1	19	dbSNP_52	104	2535,6065	415.4+/-351.8	365,1805,2130	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	562,2654,3287	AA,AG,GG		29.4767,28.2115,29.0481	,	278/674,342/738	49485548	3778,9228	2203	4300	6503	SO:0001819	synonymous_variant	2997	exon7			CTCCAGGAAGACG		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1026C>T	19.37:g.49485548G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	125	66	0.528	NM_002103	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1	589	0.2696886446886447	156	0.3170731707317073	100	0.27624309392265195	134	0.23426573426573427	199	0.262532981530343	G	12.39	1.922336	0.33908	0.282115	0.294767	ENSG00000104812	ENST00000540532	T	0.26373	1.74	5.21	4.16	0.48862	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.39974	P	0.025175999999999976	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-31.0172	8.5832	0.33642	0.1731:0.0:0.8269:0.0	rs5464;rs2228476;rs8192706;rs13306416;rs16981011;rs16981013;rs17206756;rs5464	.	.	.	F	223	ENSP00000445197:S223F	.	S	-	2	0	GYS1	54177360	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.703000	0.37846	2.613000	0.88420	0.650000	0.86243	TCC	G|0.713;A|0.287	0.287	strong		0.517	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49485548	G	A	49485548	2	1	23	1	0	0	0	0	0	0	0	1	6912	1165	41	2		2	GYS1	19	49485548	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16461	49485548	9643435	4411	20867										
KCNA7	3743	hgsc.bcm.edu	37	chr19	49573438	49573438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagtgggccacaaggctgcAtgtccacatggctgaacatc	11	13	0	1	rs1017219	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49573438A>G	ENST00000221444.1	-	2	1608	c.1253T>C	c.(1252-1254)aTg>aCg	p.M418T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	418			M -> T (in dbSNP:rs1017219). {ECO:0000269|PubMed:11368907, ECO:0000269|PubMed:11896454}.		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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	ACAAGGCTGCATGTCCACATG	0.592													a|||	1833	0.366014	0.4766	0.3213	5008	,	,		16717	0.3353		0.328	False		,,,				2504	0.319				p.M418T	Colon(74;686 1235 3793 23366 48562)	Atlas-SNP	.											.	KCNA7	30	.	0			c.T1253C						PASS	.	A	THR/MET	2022,2384	563.5+/-381.2	459,1104,640	77	72	73		1253	3.2	1	19	dbSNP_86	73	2989,5611	463.8+/-366.1	533,1923,1844	yes	missense	KCNA7	NM_031886.2	81	992,3027,2484	GG,GA,AA		34.7558,45.892,38.5284	benign	418/457	49573438	5011,7995	2203	4300	6503	SO:0001583	missense	3743	exon2			GGCTGCATGTCCA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1253T>C	19.37:g.49573438A>G	ENSP00000221444:p.Met418Thr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	92	46	0.5	NM_031886	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	CCDS12755.1	801	0.36675824175824173	240	0.4878048780487805	141	0.38950276243093923	179	0.3129370629370629	241	0.3179419525065963	a	1.053	-0.675176	0.03378	0.45892	0.347558	ENSG00000104848	ENST00000221444	D	0.97455	-4.39	4.27	3.23	0.37069	.	0.869427	0.09899	N	0.741250	T	0.00012	0.0000	N	0.00321	-1.65	0.48632	P	3.170000000000117E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.30446	-0.9978	9	0.23891	T	0.37	.	11.6813	0.51458	0.0899:0.0:0.9101:0.0	rs1017219;rs3810187;rs57874828;rs1017219	418	Q96RP8	KCNA7_HUMAN	T	418	ENSP00000221444:M418T	ENSP00000221444:M418T	M	-	2	0	KCNA7	54265250	0.797000	0.28877	0.994000	0.49952	0.913000	0.54294	0.606000	0.24194	1.179000	0.42884	-0.362000	0.07510	ATG	A|0.619;G|0.381	0.381	strong		0.592	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		G	49573438	A	G	49573438	3	3	23	1	0	0	0	0	1	0	0	0	8008	217	8	2	121	2	KCNA7	19	49573438	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	87890	49573438	9555545	4412	20868										
DKKL1	27120	hgsc.bcm.edu	37	chr19	49867913	49867913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctaccctggtgatcccctccGctgcagctcctatccatgat	7	17	0	2	rs919364	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49867913G>A	ENST00000221498.2	+	2	490	c.85G>A	c.(85-87)Gct>Act	p.A29T	DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	29			A -> T (in dbSNP:rs919364).		anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GATCCCCTCCGCTGCAGCTCC	0.627													A|||	1300	0.259585	0.3457	0.2104	5008	,	,		15578	0.1766		0.3111	False		,,,				2504	0.2106				p.A29T		Atlas-SNP	.											.	DKKL1	23	.	0			c.G85A						PASS	.	A	THR/ALA,,THR/ALA	1429,2977	683.3+/-404.2	252,925,1026	58	51	54		85,,85	-0.6	0.1	19	dbSNP_86	54	2728,5872	680.6+/-403.7	423,1882,1995	yes	missense,utr-5,missense	DKKL1	NM_001197301.1,NM_001197302.1,NM_014419.3	58,,58	675,2807,3021	AA,AG,GG		31.7209,32.433,31.9622	benign,,benign	29/212,,29/243	49867913	4157,8849	2203	4300	6503	SO:0001583	missense	27120	exon2			CCCTCCGCTGCAG	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.85G>A	19.37:g.49867913G>A	ENSP00000221498:p.Ala29Thr	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	220	108	0.490909	NM_014419		Missense_Mutation	SNP	ENST00000221498.2	37	CCDS12762.1	587	0.26877289377289376	172	0.34959349593495936	85	0.23480662983425415	108	0.1888111888111888	222	0.2928759894459103	A	6.302	0.423838	0.11928	0.32433	0.317209	ENSG00000104901	ENST00000221498	T	0.12879	2.64	3.36	-0.557	0.11800	.	1.217580	0.06218	N	0.686307	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43572	-0.9383	9	0.02654	T	1	1.3103	0.2643	0.00223	0.2897:0.1597:0.283:0.2677	rs919364;rs60520264;rs919364	29	Q9UK85	DKKL1_HUMAN	T	29	ENSP00000221498:A29T	ENSP00000221498:A29T	A	+	1	0	DKKL1	54559725	0.000000	0.05858	0.107000	0.21349	0.832000	0.47134	-1.722000	0.01868	-0.298000	0.08921	-0.361000	0.07541	GCT	G|0.704;A|0.296	0.296	strong		0.627	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		A	49867913	G	A	49867913	3	1	23	1	0	0	0	0	1	0	0	0	4548	1087	38	1	91	1	DKKL1	19	49867913	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	294475	49867913	9261070	4413	20869										
RPL13A	23521	hgsc.bcm.edu	37	chr19	49993535	49993535	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggcatcaacatttctggCaatttctacagaaacaagtg	8	8	3	1	rs1064257	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:49993535C>G	ENST00000391857.4	+	3	211	c.135C>G	c.(133-135)ggC>ggG	p.G45G	RPL13A_ENST00000477613.2_3'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	45					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACATTTCTGGCAATTTCTACA	0.567													C|||	80	0.0159744	0.0023	0.0331	5008	,	,		18852	0.0		0.0477	False		,,,				2504	0.0061				p.G45G		Atlas-SNP	.											.	RPL13A	13	.	0			c.C135G						PASS	.	C		46,4360	50.2+/-85.5	0,46,2157	52	49	50		135	-0.3	1	19	dbSNP_86	50	443,8157	133.9+/-191.4	11,421,3868	no	coding-synonymous	RPL13A	NM_012423.2		11,467,6025	GG,GC,CC		5.1512,1.044,3.7598		45/204	49993535	489,12517	2203	4300	6503	SO:0001819	synonymous_variant	23521	exon3			TTCTGGCAATTTC	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.135C>G	19.37:g.49993535C>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	60	35	0.583333	NM_012423	A8K505	Silent	SNP	ENST00000391857.4	37	CCDS12768.1																																																																																			C|0.964;G|0.036	0.036	strong		0.567	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			G	49993535	C	G	49993535	2	3	23	1	0	0	0	0	0	0	0	1	13560	697	25	4		4	RPL13A	19	49993535	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	125622	49993535	9135448	4414	20870										
PRRG2	5639	hgsc.bcm.edu	37	chr19	50093248	50093248	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccacccccaggcctccccAcctatgagcaggcgctggca	9	21	0	1	rs144521999	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50093248A>T	ENST00000246794.5	+	6	698	c.529A>T	c.(529-531)Acc>Tcc	p.T177S	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	177						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		aGGCCTCCCCACCTATGAGCA	0.711													A|||	186	0.0371406	0.003	0.0548	5008	,	,		4918	0.003		0.1133	False		,,,				2504	0.0276				p.T177S		Atlas-SNP	.											.	PRRG2	13	.	0			c.A529T						PASS	.	A	SER/THR	46,2892		1,44,1424	2	2	2		529	3.7	1	19	dbSNP_134	2	490,5602		6,478,2562	yes	missense	PRRG2	NM_000951.2	58	7,522,3986	TT,TA,AA		8.0433,1.5657,5.9358	possibly-damaging	177/203	50093248	536,8494	1469	3046	4515	SO:0001583	missense	5639	exon6			CTCCCCACCTATG		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.529A>T	19.37:g.50093248A>T	ENSP00000246794:p.Thr177Ser	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	16	10	0.625	NM_000951	Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	CCDS12773.1	132	0.06043956043956044	1	0.0020325203252032522	33	0.09116022099447514	1	0.0017482517482517483	97	0.1279683377308707	A	10.89	1.478535	0.26511	0.015657	0.080433	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.96396	-4.0	4.75	3.65	0.41850	.	0.117120	0.52532	D	0.000078	T	0.19087	0.0458	N	0.21373	0.66	0.34516	P	0.29237	D;D	0.67145	0.996;0.993	D;D	0.73380	0.98;0.978	T	0.79152	-0.1921	9	0.02654	T	1	-30.9692	7.2004	0.25877	0.8017:0.0:0.0:0.1983	.	154;177	F5GZ13;O14669	.;TMG2_HUMAN	S	177;154	ENSP00000246794:T177S	ENSP00000246794:T177S	T	+	1	0	PRRG2	54785060	0.968000	0.33430	1.000000	0.80357	0.983000	0.72400	2.130000	0.42064	1.902000	0.55061	0.374000	0.22700	ACC	A|0.939;T|0.061	0.061	strong		0.711	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		T	50093248	A	T	50093248	3	4	23	1	0	0	0	0	1	0	0	0	12606	159	6	5	547	5	PRRG2	19	50093248	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	99713	50093248	9035735	4415	20871										
SCAF1	58506	hgsc.bcm.edu	37	chr19	50154607	50154607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaggtgacgagagccccCgcccggacgcgcagcccaca	12	19	0	2	rs146455893	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50154607C>T	ENST00000360565.3	+	7	1085	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	321					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGAGCCCCCGCCCGGACGC	0.697																																					p.R321C		Atlas-SNP	.											.	SCAF1	78	.	0			c.C961T						PASS	.	C	CYS/ARG	2,4400		0,2,2199	18	19	19		961	0.7	0.2	19	dbSNP_134	19	5,8591		0,5,4293	no	missense	SCAF1	NM_021228.2	180	0,7,6492	TT,TC,CC		0.0582,0.0454,0.0539	possibly-damaging	321/1313	50154607	7,12991	2201	4298	6499	SO:0001583	missense	58506	exon7			AGCCCCCGCCCGG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.961C>T	19.37:g.50154607C>T	ENSP00000353769:p.Arg321Cys	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	19	16	0.842105	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595518	0.46318	4.54E-4	5.82E-4	ENSG00000126461	ENST00000360565	T	0.34275	1.37	4.47	0.683	0.17998	.	1.130880	0.06849	N	0.797016	T	0.19685	0.0473	N	0.08118	0	0.09310	N	0.999999	P	0.44281	0.831	B	0.36186	0.219	T	0.23547	-1.0185	9	.	.	.	-2.8823	14.2469	0.65995	0.0:0.4311:0.5689:0.0	.	321	Q9H7N4	SFR19_HUMAN	C	321	ENSP00000353769:R321C	.	R	+	1	0	SCAF1	54846419	0.000000	0.05858	0.200000	0.23457	0.964000	0.63967	-0.197000	0.09518	0.401000	0.25424	0.591000	0.81541	CGC	A|0.000;C|0.999;T|0.001	0.001	strong		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50154607	C	T	50154607	3	4	23	1	0	0	0	0	1	0	0	0	13868	652	23	1	983	1	SCAF1	19	50154607	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	61359	50154607	8974376	4416	20872										
PNKP	11284	hgsc.bcm.edu	37	chr19	50364914	50364914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggcggtgaagaggaagcagCggcaggggacgcccgcggct	20	10	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50364914C>T	ENST00000322344.3	-	15	1446	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	PNKP_ENST00000596014.1_Missense_Mutation_p.R446H|PNKP_ENST00000600910.1_Silent_p.P409P|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000599259.1_RNA|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000600573.1_Missense_Mutation_p.R415H|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	446	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GAGGAAGCAGCGGCAGGGGAC	0.741								Other BER factors																													p.R446H		Atlas-SNP	.											.	PNKP	71	.	0			c.G1337A						PASS	.						4	8	7					19																	50364914		1965	3897	5862	SO:0001583	missense	11284	exon15			AAGCAGCGGCAGG	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1337G>A	19.37:g.50364914C>T	ENSP00000323511:p.Arg446His	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	24	4	0.166667	NM_007254	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885414	0.91814	.	.	ENSG00000039650	ENST00000322344	T	0.48201	0.82	3.96	3.96	0.45880	.	0.000000	0.64402	D	0.000003	T	0.66626	0.2808	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69435	-0.5146	10	0.54805	T	0.06	-17.9148	11.6883	0.51499	0.0:1.0:0.0:0.0	.	407;446	Q9BUL2;Q96T60	.;PNKP_HUMAN	H	446	ENSP00000323511:R446H	ENSP00000323511:R446H	R	-	2	0	PNKP	55056726	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.989000	0.56958	2.226000	0.72624	0.557000	0.71058	CGC	.	.	none		0.741	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		T	50364914	C	T	50364914	3	4	23	1	0	0	0	0	1	0	0	0	12147	768	27	1	240	1	PNKP	19	50364914	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	210307	50364914	8764069	4417	20873										
NUP62	23636	hgsc.bcm.edu	37	chr19	50412217	50412217	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccggtggtgctgctgctgCtggtggtggtggcggtggcg	22	8	0	0	rs1062798	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50412217C>G	ENST00000596217.1	-	2	2735	c.848G>C	c.(847-849)aGc>aCc	p.S283T	NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.S283T|NUP62_ENST00000352066.3_Missense_Mutation_p.S283T|NUP62_ENST00000597029.1_Missense_Mutation_p.S283T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.S283T			P37198	NUP62_HUMAN	nucleoporin 62kDa	283	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		S -> T (in dbSNP:rs1062798). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1915414}.		carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctgctggtggtggt	0.627													C|||	1584	0.316294	0.2383	0.379	5008	,	,		15105	0.3938		0.3827	False		,,,				2504	0.229				p.S283T		Atlas-SNP	.											NUP62,NS,carcinoma,0,2	NUP62	50	2	0			c.G848C						scavenged	.	C	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	997,3405		118,761,1322	31	29	30		848,848,848,848,848,	0.8	0	19	dbSNP_86	30	3113,5481		577,1959,1761	yes	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	58,58,58,58,58,	695,2720,3083	GG,GC,CC		36.2229,22.6488,31.6251	benign,benign,benign,benign,benign,	283/523,283/523,283/523,283/523,283/523,	50412217	4110,8886	2201	4297	6498	SO:0001583	missense	23636	exon3			CTGCTGCTGGTGG	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.848G>C	19.37:g.50412217C>G	ENSP00000471191:p.Ser283Thr	Somatic	96	1	0.0104167		WXS	Illumina HiSeq	Phase_I	73	71	0.972603	NM_153719	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	CCDS12788.1	763	0.34935897435897434	103	0.20934959349593496	134	0.3701657458563536	230	0.4020979020979021	296	0.39050131926121373	C	0.016	-1.533751	0.00951	0.226488	0.362229	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.36157	1.27;1.27;1.27	4.24	0.801	0.18679	Nucleoporin, NSP1-like, C-terminal (1);	1.330530	0.05670	N	0.588508	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45366	-0.9266	8	.	.	.	-2.1099	13.4683	0.61268	0.0:0.2452:0.7548:0.0	rs1062798;rs3203778;rs3745497;rs4009638;rs5828420;rs17844993;rs17857752;rs52814004	283	P37198	NUP62_HUMAN	T	283	ENSP00000305503:S283T;ENSP00000407331:S283T;ENSP00000387991:S283T	.	S	-	2	0	NUP62	55104029	0.050000	0.20438	0.000000	0.03702	0.004000	0.04260	1.221000	0.32503	0.190000	0.20209	-1.162000	0.01777	AGC	C|0.677;G|0.323	0.323	strong		0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		G	50412217	C	G	50412217	3	3	23	1	0	0	0	0	1	0	0	0	10768	797	28	4	724	4	NUP62	19	50412217	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	47303	50412217	8716766	4418	20874										
ATF5	22809	hgsc.bcm.edu	37	chr19	50435862	50435862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcttcctagatgccccgcCcctcccaccaccctccccgc	4	25	1	1	rs283526	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50435862C>T	ENST00000423777.2	+	3	739	c.362C>T	c.(361-363)cCc>cTc	p.P121L	MIR4751_ENST00000578027.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000352066.3_5'Flank|ATF5_ENST00000595125.1_Missense_Mutation_p.P121L|NUP62_ENST00000422090.2_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	121	Interaction with PTP4A1. {ECO:0000250}.		P -> L (in dbSNP:rs283526). {ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334}.		multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GATGCCCCGCCCCTCccacca	0.657													T|||	3348	0.66853	0.9274	0.6412	5008	,	,		3984	0.6538		0.5169	False		,,,				2504	0.5092				p.P121L	GBM(48;768 989 9196 9511 26329)	Atlas-SNP	.											ATF5,NS,carcinoma,0,1	ATF5	27	1	0			c.C362T						scavenged	.	T	LEU/PRO,LEU/PRO	3791,567		1662,467,50	10	8	9		362,362	2.9	0.6	19	dbSNP_79	9	4462,4004		1225,2012,996	yes	missense,missense	ATF5	NM_001193646.1,NM_012068.5	98,98	2887,2479,1046	TT,TC,CC		47.2951,13.0106,35.6441	benign,benign	121/283,121/283	50435862	8253,4571	2179	4233	6412	SO:0001583	missense	22809	exon4			CCCCGCCCCTCCC	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.362C>T	19.37:g.50435862C>T	ENSP00000396954:p.Pro121Leu	Somatic	105	3	0.0285714		WXS	Illumina HiSeq	Phase_I	119	107	0.89916	NM_012068	B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	CCDS12789.1	1316	0.6025641025641025	383	0.7784552845528455	212	0.585635359116022	353	0.6171328671328671	368	0.48548812664907653	T	0.581	-0.837221	0.02692	0.869894	0.527049	ENSG00000169136	ENST00000423777	T	0.40225	1.04	2.87	2.87	0.33458	.	0.770342	0.11118	N	0.597734	T	0.00012	0.0000	N	0.00413	-1.525	0.40654	P	0.01793100000000003	B	0.02656	0.0	B	0.01281	0.0	T	0.28554	-1.0040	9	0.09843	T	0.71	-3.2089	6.5705	0.22535	0.0:0.1248:0.0:0.8752	rs283526;rs3170546;rs3745493;rs17845046;rs17857823;rs60018578;rs283526	121	Q9Y2D1	ATF5_HUMAN	L	121	ENSP00000396954:P121L	ENSP00000396954:P121L	P	+	2	0	ATF5	55127674	0.985000	0.35326	0.614000	0.29051	0.323000	0.28346	1.942000	0.40243	0.499000	0.27970	-0.554000	0.04202	CCC	C|0.351;T|0.649	0.649	strong		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			T	50435862	C	T	50435862	3	4	23	1	0	0	0	0	1	0	0	0	1083	623	22	2	368	2	ATF5	19	50435862	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	23645	50435862	8693121	4419	20875										
MYH14	79784	hgsc.bcm.edu	37	chr19	50726570	50726570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagtacctcgcccacgtggcGtcgtctccaaagggcaggaa	12	14	1	0	rs4801822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50726570G>A	ENST00000596571.1	+	4	657	c.657G>A	c.(655-657)gcG>gcA	p.A219A	MYH14_ENST00000598205.1_Silent_p.A219A|MYH14_ENST00000262269.8_Silent_p.A219A|MYH14_ENST00000425460.1_Silent_p.A219A|MYH14_ENST00000376970.2_Silent_p.A219A|MYH14_ENST00000440075.2_Silent_p.A219A|MYH14_ENST00000601313.1_Silent_p.A219A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	219	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A219A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCACGTGGCGTCGTCTCCAA	0.632													A|||	2368	0.472843	0.1573	0.4942	5008	,	,		17994	0.5804		0.6123	False		,,,				2504	0.6299				p.A219A		Atlas-SNP	.											MYH14_ENST00000262269,NS,carcinoma,0,2	MYH14	261	2	2	Substitution - coding silent(2)	prostate(2)	c.G657A						scavenged	.	A	,,	987,3349		132,723,1313	44	51	49		657,657,657	-6.1	0.1	19	dbSNP_111	49	5380,3192		1712,1956,618	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	1844,2679,1931	AA,AG,GG		37.2375,22.7629,49.326	,,	219/2004,219/2037,219/1996	50726570	6367,6541	2168	4286	6454	SO:0001819	synonymous_variant	79784	exon5			CGTGGCGTCGTCT	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.657G>A	19.37:g.50726570G>A		Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	158	62	0.392405	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			G|0.507;A|0.494	0.494	strong		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50726570	G	A	50726570	2	1	23	1	0	0	0	0	0	0	0	1	10033	1132	40	1		1	MYH14	19	50726570	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	290708	50726570	8402413	4420	20876										
MYH14	79784	hgsc.bcm.edu	37	chr19	50760716	50760716	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accaaccccagttttgtccgCtgcattgtccccaaccacga	6	17	0	0	rs378811	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50760716C>G	ENST00000596571.1	+	15	2082	c.2082C>G	c.(2080-2082)cgC>cgG	p.R694R	MYH14_ENST00000598205.1_Silent_p.R702R|MYH14_ENST00000262269.8_Silent_p.R735R|MYH14_ENST00000425460.1_Silent_p.R702R|MYH14_ENST00000376970.2_Silent_p.R727R|MYH14_ENST00000440075.2_Silent_p.R735R|MYH14_ENST00000601313.1_Silent_p.R735R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	694	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTTTTGTCCGCTGCATTGTCC	0.612													C|||	1792	0.357827	0.3374	0.3026	5008	,	,		19529	0.374		0.4026	False		,,,				2504	0.362				p.R735R		Atlas-SNP	.											MYH14_ENST00000262269,NS,carcinoma,0,4	MYH14	261	4	0			c.C2205G						PASS	.	C	,,	1336,2946		217,902,1022	31	34	33		2106,2205,2082	4.5	1	19	dbSNP_80	33	3603,4903		771,2061,1421	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	988,2963,2443	GG,GC,CC		42.3583,31.2004,38.6221	,,	702/2004,735/2037,694/1996	50760716	4939,7849	2141	4253	6394	SO:0001819	synonymous_variant	79784	exon18			TGTCCGCTGCATT	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2082C>G	19.37:g.50760716C>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	97	53	0.546392	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			C|0.617;G|0.383	0.383	strong		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50760716	C	G	50760716	2	3	23	1	0	0	0	0	0	0	0	1	10033	784	28	4		4	MYH14	19	50760716	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	34146	50760716	8368267	4421	20877										
NAPSA	9476	hgsc.bcm.edu	37	chr19	50863023	50863023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtggatctgccagtaggcAgggaccgtgactggcacgaa	15	9	1	1	rs638294	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50863023A>G	ENST00000253719.2	-	6	973	c.765T>C	c.(763-765)ccT>ccC	p.P255P	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	255					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GCCAGTAGGCAGGGACCGTGA	0.652													a|||	1742	0.347843	0.4554	0.4049	5008	,	,		18656	0.1716		0.33	False		,,,				2504	0.362				p.P255P		Atlas-SNP	.											.	NAPSA	38	.	0			c.T765C						PASS	.	A		1913,2493	536.4+/-374.5	426,1061,716	61	66	64		765	-8	0.6	19	dbSNP_83	64	2863,5737	441.0+/-359.7	463,1937,1900	no	coding-synonymous	NAPSA	NM_004851.1		889,2998,2616	GG,GA,AA		33.2907,43.4181,36.7215		255/421	50863023	4776,8230	2203	4300	6503	SO:0001819	synonymous_variant	9476	exon6			GTAGGCAGGGACC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.765T>C	19.37:g.50863023A>G		Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	135	133	0.985185	NM_004851	Q8WWD9	Silent	SNP	ENST00000253719.2	37	CCDS12794.1																																																																																			A|0.662;G|0.338	0.338	strong		0.652	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		G	50863023	A	G	50863023	2	3	23	1	0	0	0	0	0	0	0	1	10166	175	7	3		3	NAPSA	19	50863023	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	102307	50863023	8265960	4422	20878										
NAPSA	9476	hgsc.bcm.edu	37	chr19	50865535	50865535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcccctcagtaggttcaggAtcctgcgtccaggttggact	11	12	2	0	rs676314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50865535A>G	ENST00000253719.2	-	2	327	c.119T>C	c.(118-120)aTc>aCc	p.I40T	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	40			I -> T (in dbSNP:rs676314). {ECO:0000269|PubMed:15489334}.		membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TAGGTTCAGGATCCTGCGTCC	0.547													G|||	1925	0.384385	0.5809	0.428	5008	,	,		18979	0.1706		0.331	False		,,,				2504	0.363				p.I40T		Atlas-SNP	.											NAPSA,tonsil,carcinoma,0,1	NAPSA	38	1	0			c.T119C						PASS	.	G	THR/ILE	2408,1998	560.6+/-380.5	674,1060,469	65	61	62		119	-5.1	0	19	dbSNP_83	62	2881,5719	673.0+/-403.0	467,1947,1886	yes	missense	NAPSA	NM_004851.1	89	1141,3007,2355	GG,GA,AA		33.5,45.3473,40.6658	benign	40/421	50865535	5289,7717	2203	4300	6503	SO:0001583	missense	9476	exon2			TTCAGGATCCTGC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.119T>C	19.37:g.50865535A>G	ENSP00000253719:p.Ile40Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	88	85	0.965909	NM_004851	Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	CCDS12794.1	800	0.3663003663003663	286	0.5813008130081301	143	0.39502762430939226	117	0.20454545454545456	254	0.33509234828496043	G	0.027	-1.359724	0.01245	0.546527	0.335	ENSG00000131400	ENST00000253719	T	0.29655	1.56	3.9	-5.12	0.02893	Peptidase aspartic (1);	2.362150	0.01398	N	0.013480	T	0.00012	0.0000	N	0.00869	-1.13	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.38993	-0.9635	9	0.02654	T	1	.	0.255	0.00210	0.3467:0.1401:0.2293:0.2839	rs676314;rs17856553;rs676314	40	O96009	NAPSA_HUMAN	T	40	ENSP00000253719:I40T	ENSP00000253719:I40T	I	-	2	0	NAPSA	55557347	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.263000	0.08670	-1.739000	0.01347	-1.238000	0.01547	ATC	A|0.618;G|0.382	0.382	strong		0.547	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		G	50865535	A	G	50865535	3	3	23	1	0	0	0	0	1	0	0	0	10166	333	12	2	1175	2	NAPSA	19	50865535	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2512	50865535	8263448	4423	20879										
POLD1	5424	hgsc.bcm.edu	37	chr19	50905042	50905042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgaccccacaggcccagcGcagcctgtgcctggggggcc	15	16	0	1	rs20582	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50905042G>A	ENST00000440232.2	+	4	377	c.324G>A	c.(322-324)gcG>gcA	p.A108A	POLD1_ENST00000599857.1_Silent_p.A108A|POLD1_ENST00000595904.1_Silent_p.A108A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	108					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CAGGCCCAGCGCAGCCTGTGC	0.672								DNA polymerases (catalytic subunits)					G|||	946	0.188898	0.3245	0.1023	5008	,	,		11288	0.1607		0.0706	False		,,,				2504	0.2178				p.A108A		Atlas-SNP	.											.	POLD1	174	.	0			c.G324A						PASS	.	G		1266,3124		224,818,1153	27	34	31		324	-7.7	0	19	dbSNP_67	31	602,7940		24,554,3693	no	coding-synonymous	POLD1	NM_002691.2		248,1372,4846	AA,AG,GG		7.0475,28.8383,14.4448		108/1108	50905042	1868,11064	2195	4271	6466	SO:0001819	synonymous_variant	5424	exon4			CCCAGCGCAGCCT		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.324G>A	19.37:g.50905042G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	48	30	0.625	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			A|0.170;G|0.829;T|0.000	0.170	strong		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50905042	G	A	50905042	2	1	23	1	0	0	0	0	0	0	0	1	12190	1074	38	1		1	POLD1	19	50905042	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	39507	50905042	8223941	4424	20880										
POLD1	5424	hgsc.bcm.edu	37	chr19	50905074	50905074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggggggcccccaccatcccGcggctccgtgcctgtgctcc	13	19	0	0	rs1726801	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50905074G>A	ENST00000440232.2	+	4	409	c.356G>A	c.(355-357)cGc>cAc	p.R119H	POLD1_ENST00000599857.1_Missense_Mutation_p.R119H|POLD1_ENST00000595904.1_Missense_Mutation_p.R119H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	119			R -> H (in dbSNP:rs1726801). {ECO:0000269|PubMed:1542570, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCACCATCCCGCGGCTCCGTG	0.677								DNA polymerases (catalytic subunits)					G|||	943	0.188299	0.3222	0.1023	5008	,	,		12711	0.1607		0.0706	False		,,,				2504	0.2178				p.R119H		Atlas-SNP	.											.	POLD1	174	.	0			c.G356A						PASS	.	G	HIS/ARG	1305,3099	415.7+/-337.3	206,893,1103	36	40	39		356	-8.1	0	19	dbSNP_89	39	619,7977	153.7+/-208.1	22,575,3701	yes	missense	POLD1	NM_002691.2	29	228,1468,4804	AA,AG,GG		7.201,29.6322,14.8	benign	119/1108	50905074	1924,11076	2202	4298	6500	SO:0001583	missense	5424	exon4			CATCCCGCGGCTC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.356G>A	19.37:g.50905074G>A	ENSP00000406046:p.Arg119His	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	83	50	0.60241	NM_002691	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	354	0.1620879120879121	149	0.30284552845528456	40	0.11049723756906077	110	0.19230769230769232	55	0.07255936675461741	G	9.914	1.210250	0.22289	0.296322	0.07201	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22743	1.94	4.04	-8.08	0.01094	Ribonuclease H-like (1);	1.185790	0.05994	N	0.646591	T	0.00012	0.0000	L	0.39898	1.24	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.41233	-0.9520	9	0.13108	T	0.6	-1.863	6.6121	0.22757	0.4495:0.3218:0.2288:0.0	rs1726801;rs2230241;rs17850396;rs58282823;rs1726801	119;119	E7EVW0;P28340	.;DPOD1_HUMAN	H	119;120	ENSP00000406046:R119H	ENSP00000366129:R120H	R	+	2	0	POLD1	55596886	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.860000	0.04272	-1.701000	0.01413	-1.576000	0.00868	CGC	G|0.838;A|0.162	0.162	strong		0.677	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50905074	G	A	50905074	3	1	23	1	0	0	0	0	1	0	0	0	12190	1087	38	1	366	1	POLD1	19	50905074	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	32	50905074	8223909	4425	20881										
MYBPC2	4606	hgsc.bcm.edu	37	chr19	50944294	50944294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctccggggcatgctgaagCggctgaaaaaggctaaggtc	14	10	0	2	rs374005339		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:50944294C>T	ENST00000357701.5	+	8	781	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	244					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CATGCTGAAGCGGCTGAAAAA	0.602																																					p.R244W		Atlas-SNP	.											.	MYBPC2	103	.	0			c.C730T						PASS	.		TRP/ARG	1,4181		0,1,2090	32	34	34		730	2.2	1	19		34	1,8491		0,1,4245	no	missense	MYBPC2	NM_004533.3	101	0,2,6335	TT,TC,CC		0.0118,0.0239,0.0158	probably-damaging	244/1142	50944294	2,12672	2091	4246	6337	SO:0001583	missense	4606	exon8			CTGAAGCGGCTGA		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.730C>T	19.37:g.50944294C>T	ENSP00000350332:p.Arg244Trp	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	203	12	0.0591133	NM_004533	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.829530	0.50845	2.39E-4	1.18E-4	ENSG00000086967	ENST00000357701	T	0.59638	0.25	3.33	2.23	0.28157	.	0.000000	0.33477	U	0.004875	T	0.69975	0.3171	M	0.66297	2.02	0.35743	D	0.818838	D	0.89917	1.0	D	0.97110	1.0	T	0.76391	-0.2976	10	0.66056	D	0.02	.	9.7381	0.40401	0.368:0.632:0.0:0.0	.	244	Q14324	MYPC2_HUMAN	W	244	ENSP00000350332:R244W	ENSP00000350332:R244W	R	+	1	2	MYBPC2	55636106	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	1.612000	0.36889	0.910000	0.36722	0.298000	0.19748	CGG	.	.	weak		0.602	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		T	50944294	C	T	50944294	3	4	23	1	0	0	0	0	1	0	0	0	10012	759	27	1	760	1	MYBPC2	19	50944294	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	39220	50944294	8184689	4426	20882										
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51051935	51051935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggccacggggcaggaggtgGccggcggggagccccctccg	20	14	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51051935G>A	ENST00000599957.1	-	2	358	c.161C>T	c.(160-162)gCc>gTc	p.A54V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A54V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	54	LRRNT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGGAGGTGGCCGGCGGGGA	0.716																																					p.A54V		Atlas-SNP	.											.	LRRC4B	89	.	0			c.C161T						PASS	.						5	7	6					19																	51051935		1891	4047	5938	SO:0001583	missense	94030	exon2			GAGGTGGCCGGCG	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.161C>T	19.37:g.51051935G>A	ENSP00000471502:p.Ala54Val	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	33	19	0.575758	NM_001080457	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724144	0.68959	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.44083	0.93	3.66	2.57	0.30868	.	0.000000	0.56097	U	0.000023	T	0.35393	0.0930	M	0.68317	2.08	0.40088	D	0.976213	B	0.29432	0.244	B	0.18871	0.023	T	0.19224	-1.0312	10	0.33940	T	0.23	.	8.9339	0.35688	0.0:0.229:0.771:0.0	.	54	Q9NT99	LRC4B_HUMAN	V	54	ENSP00000373853:A54V	ENSP00000373853:A54V	A	-	2	0	LRRC4B	55743747	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.242000	0.58714	0.830000	0.34757	0.544000	0.68410	GCC	.	.	none		0.716	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		A	51051935	G	A	51051935	3	1	23	1	0	0	0	0	1	0	0	0	9007	1203	42	2	1988	2	LRRC4B	19	51051935	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	107641	51051935	8077048	4427	20883										
CLEC11A	6320	hgsc.bcm.edu	37	chr19	51228634	51228634	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaacggtggcacgctcgaGaactgcgtggcgcaggcctc	14	15	0	1	rs11084024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51228634G>A	ENST00000250340.4	+	4	1079	c.882G>A	c.(880-882)gaG>gaA	p.E294E	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E311K	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	294	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCACGCTCGAGAACTGCGTGG	0.711													G|||	759	0.151558	0.1853	0.1182	5008	,	,		13732	0.0506		0.2505	False		,,,				2504	0.1319				p.E294E		Atlas-SNP	.											.	CLEC11A	23	.	0			c.G882A						PASS	.	G		796,3586		69,658,1464	17	16	17		882	3.5	1	19	dbSNP_120	17	1859,6691		212,1435,2628	no	coding-synonymous	CLEC11A	NM_002975.2		281,2093,4092	AA,AG,GG		21.7427,18.1652,20.5305		294/324	51228634	2655,10277	2191	4275	6466	SO:0001819	synonymous_variant	6320	exon4			GCTCGAGAACTGC	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.882G>A	19.37:g.51228634G>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	25	0.390625	NM_002975	B2RAD4	Silent	SNP	ENST00000250340.4	37	CCDS12800.1																																																																																			G|0.808;A|0.192	0.192	strong		0.711	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		A	51228634	G	A	51228634	2	1	23	1	0	0	0	0	0	0	0	1	3496	933	33	2		2	CLEC11A	19	51228634	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	176699	51228634	7900349	4428	20884										
ACPT	93650	hgsc.bcm.edu	37	chr19	51297825	51297825	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagcacctggggaatcccGccaaagatggagggtgagaa					rs55716643|rs386810263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51297825G>A	ENST00000270593.1	+	9	973	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	ACPT_ENST00000270594.3_Missense_Mutation_p.A232T|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	325						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGGAATCCCGCCAAAGATGG	0.617													g|||	1652	0.329872	0.1309	0.2161	5008	,	,		17338	0.6538		0.3012	False		,,,				2504	0.3753				p.A325T		Atlas-SNP	.											.	ACPT	43	.	0			c.G973A						PASS	.	G	THR/ALA	673,3733	271.6+/-270.3	44,585,1574	40	39	39		973	1.7	0	19	dbSNP_129	39	2385,6215	365.6+/-334.0	349,1687,2264	yes	missense	ACPT	NM_033068.2	58	393,2272,3838	AA,AG,GG		27.7326,15.2746,23.5122	benign	325/427	51297825	3058,9948	2203	4300	6503	SO:0001583	missense	93650	exon9			AATCCCGCCAAAG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.973G>A	19.37:g.51297825G>A	ENSP00000270593:p.Ala325Thr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	85	40	0.470588	NM_033068	C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	CCDS12802.1	641	0.2934981684981685	50	0.1016260162601626	71	0.19613259668508287	330	0.5769230769230769	190	0.25065963060686014	g	6.161	0.397948	0.11696	0.152746	0.277326	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76448	2.98;-1.02	3.9	1.74	0.24563	.	0.642945	0.14811	N	0.297051	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.14805	0.011	B	0.04013	0.001	T	0.45512	-0.9256	9	0.28530	T	0.3	-10.0341	4.3799	0.11288	0.2057:0.1884:0.6059:0.0	rs55716643;rs60842760	325	Q9BZG2	PPAT_HUMAN	T	325;232	ENSP00000270593:A325T;ENSP00000270594:A232T	ENSP00000270593:A325T	A	+	1	0	ACPT	55989637	0.001000	0.12720	0.009000	0.14445	0.000000	0.00434	0.419000	0.21247	0.468000	0.27243	-0.931000	0.02705	GCC	G|0.751;A|0.249	0.249	strong		0.617	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		A	51297825	G	A	51297825	3	1	23	1	0	0	0	0	1	0	0	0	168	1087	38	1	1007	1	ACPT	19	51297825	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	69191	51297825	7831158	4429	20885	416	2								
ACPT	93650	hgsc.bcm.edu	37	chr19	51297826	51297826	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagcacctggggaatcccgCcaaagatggagggtgagaat					rs55735528|rs386810263	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51297826C>A	ENST00000270593.1	+	9	974	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ACPT_ENST00000270594.3_Missense_Mutation_p.A232D|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	325						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGAATCCCGCCAAAGATGGA	0.617													A|||	1652	0.329872	0.1309	0.2161	5008	,	,		17428	0.6538		0.3012	False		,,,				2504	0.3753				p.A325D		Atlas-SNP	.											.	ACPT	43	.	0			c.C974A						PASS	.	C	ASP/ALA	673,3733		44,585,1574	39	39	39		974	2.9	0	19	dbSNP_129	39	2383,6217		348,1687,2265	yes	missense	ACPT	NM_033068.2	126	392,2272,3839	AA,AC,CC		27.7093,15.2746,23.4968	benign	325/427	51297826	3056,9950	2203	4300	6503	SO:0001583	missense	93650	exon9			ATCCCGCCAAAGA	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.974C>A	19.37:g.51297826C>A	ENSP00000270593:p.Ala325Asp	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_033068	C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	CCDS12802.1	640	0.29304029304029305	50	0.1016260162601626	71	0.19613259668508287	329	0.5751748251748252	190	0.25065963060686014	N	3.945	-0.013485	0.07727	0.152746	0.277093	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76709	2.97;-1.04	3.9	2.88	0.33553	.	0.642945	0.14811	N	0.297051	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.14656	T	0.56	-10.0341	8.9577	0.35827	0.8111:0.1889:0.0:0.0	rs55735528;rs61505895	325	Q9BZG2	PPAT_HUMAN	D	325;232	ENSP00000270593:A325D;ENSP00000270594:A232D	ENSP00000270593:A325D	A	+	2	0	ACPT	55989638	0.004000	0.15560	0.017000	0.16124	0.002000	0.02628	1.783000	0.38664	0.688000	0.31529	-0.367000	0.07326	GCC	C|0.752;A|0.248	0.248	strong		0.617	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		A	51297826	C	A	51297826	3	1	23	1	0	0	0	0	1	0	0	0	168	739	26	4	1008	4	ACPT	19	51297826	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	51297826	7831157	4430	20886	416	2								
C19orf48	84798	hgsc.bcm.edu	37	chr19	51301395	51301395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggattctggcctgcttcaccCctggagcaccaggccaggcg	13	15	2	0	rs4801853	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51301395C>T	ENST00000598463.1	-	5	1409	c.311G>A	c.(310-312)gGg>gAg	p.G104E	C19orf48_ENST00000596655.1_Missense_Mutation_p.G104E|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.G104E|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.G104E|C19orf48_ENST00000595794.1_5'Flank			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	104			G -> E (in dbSNP:rs4801853).							endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCTTCACCCCTGGAGCACC	0.617													c|||	1652	0.329872	0.1309	0.2161	5008	,	,		21442	0.6538		0.3012	False		,,,				2504	0.3753				p.G104E		Atlas-SNP	.											.	C19orf48	11	.	0			c.G311A						PASS	.	T	GLU/GLY,GLU/GLY	680,3726	290.4+/-280.9	45,590,1568	87	89	88		311,311	-2.2	0	19	dbSNP_111	88	2413,6187	397.0+/-345.6	350,1713,2237	yes	missense,missense	C19orf48	NM_199249.1,NM_199250.1	98,98	395,2303,3805	TT,TC,CC		28.0581,15.4335,23.7813	probably-damaging,probably-damaging	104/118,104/118	51301395	3093,9913	2203	4300	6503	SO:0001583	missense	84798	exon5			TTCACCCCTGGAG	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"multidrug resistance-related protein"					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.311G>A	19.37:g.51301395C>T	ENSP00000471463:p.Gly104Glu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	37	0.521127	NM_199249		Missense_Mutation	SNP	ENST00000598463.1	37	CCDS12803.1	769	0.35210622710622713	71	0.1443089430894309	80	0.22099447513812154	383	0.6695804195804196	235	0.3100263852242744	c	3.466	-0.108946	0.06924	0.154335	0.280581	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.35048	1.33;1.33	1.67	-2.21	0.06973	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.55172	0.97	B	0.41332	0.354	T	0.41645	-0.9497	8	0.87932	D	0	.	2.7674	0.05324	0.0:0.4002:0.2503:0.3495	rs4801853;rs17657787;rs58154692;rs4801853	104	Q6RUI8	CS048_HUMAN	E	104	ENSP00000375688:G104E;ENSP00000301419:G104E	ENSP00000301419:G104E	G	-	2	0	C19orf48	55993207	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.508000	0.06344	-0.483000	0.06772	-0.215000	0.12644	GGG	C|0.714;N|0.001	.	strong		0.617	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		T	51301395	C	T	51301395	3	4	23	1	0	0	0	0	1	0	0	0	1931	623	22	2	46	2	C19orf48	19	51301395	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3569	51301395	7827588	4431	20887										
C19orf48	84798	hgsc.bcm.edu	37	chr19	51301456	51301456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcccaggtctcacggtggcGtatggacagctcctccccat	12	15	1	0	rs4802741	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51301456G>A	ENST00000598463.1	-	5	1348	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	C19orf48_ENST00000596655.1_Missense_Mutation_p.R84C|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.R84C|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.R84C|C19orf48_ENST00000595794.1_5'Flank			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	84			R -> C (in dbSNP:rs4802741).							endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCACGGTGGCGTATGGACAGC	0.637													G|||	1652	0.329872	0.1309	0.2161	5008	,	,		19818	0.6538		0.3012	False		,,,				2504	0.3753				p.R84C		Atlas-SNP	.											.	C19orf48	11	.	0			c.C250T						PASS	.	G	CYS/ARG,CYS/ARG	682,3724		45,592,1566	110	100	103		250,250	0.9	0	19	dbSNP_111	103	2414,6186		350,1714,2236	yes	missense,missense	C19orf48	NM_199250.1,NM_199249.1	180,180	395,2306,3802	AA,AG,GG		28.0698,15.4789,23.8044	benign,benign	84/118,84/118	51301456	3096,9910	2203	4300	6503	SO:0001583	missense	84798	exon5			GGTGGCGTATGGA	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"multidrug resistance-related protein"					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.250C>T	19.37:g.51301456G>A	ENSP00000471463:p.Arg84Cys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	87	38	0.436782	NM_199249		Missense_Mutation	SNP	ENST00000598463.1	37	CCDS12803.1	769	0.35210622710622713	71	0.1443089430894309	80	0.22099447513812154	383	0.6695804195804196	235	0.3100263852242744	N	1.803	-0.476478	0.04414	0.154789	0.280698	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.32023	1.47;1.47	1.92	0.845	0.18950	.	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.31779	-0.9931	8	0.44086	T	0.13	.	7.3421	0.26644	0.1625:0.0:0.8375:0.0	rs4802741;rs17657799;rs60128113;rs4802741	84	Q6RUI8	CS048_HUMAN	C	84	ENSP00000375688:R84C;ENSP00000301419:R84C	ENSP00000301419:R84C	R	-	1	0	C19orf48	55993268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.004000	0.14419	-1.786000	0.00637	CGC	G|0.713;A|0.287	0.287	strong		0.637	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		A	51301456	G	A	51301456	3	1	23	1	0	0	0	0	1	0	0	0	1931	1145	40	1	107	1	C19orf48	19	51301456	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61	51301456	7827527	4432	20888										
KLK4	9622	hgsc.bcm.edu	37	chr19	51412666	51412666	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcagctaccagagacgagCgatcctgagggcggagtcag	15	11	1	2	rs1654552	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51412666C>A	ENST00000324041.1	-	2	65	c.66G>T	c.(64-66)tcG>tcT	p.S22S	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	22			S -> A (in dbSNP:rs1654551). {ECO:0000269|PubMed:15235027}.		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGACGAGCGATCCTGAGG	0.637													C|||	1211	0.241813	0.0666	0.4078	5008	,	,		11864	0.1071		0.4672	False		,,,				2504	0.2679				p.S22S		Atlas-SNP	.											KLK4,colon,carcinoma,0,2	KLK4	46	2	0			c.G66T						PASS	.	C		550,3856	244.3+/-253.7	34,482,1687	89	99	95		66	-1.4	0	19	dbSNP_89	95	4082,4518	547.4+/-385.2	959,2164,1177	no	coding-synonymous	KLK4	NM_004917.3		993,2646,2864	AA,AC,CC		47.4651,12.483,35.6143		22/255	51412666	4632,8374	2203	4300	6503	SO:0001819	synonymous_variant	9622	exon2			GACGAGCGATCCT	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.66G>T	19.37:g.51412666C>A		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	131	66	0.503817	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	CCDS12809.1																																																																																			C|0.685;A|0.315	0.315	strong		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		A	51412666	C	A	51412666	2	1	23	1	0	0	0	0	0	0	0	1	8406	755	27	4		4	KLK4	19	51412666	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111210	51412666	7716317	4433	20889										
KLK6	5653	hgsc.bcm.edu	37	chr19	51465096	51465096	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcacactcctcacgggacacCaggtggatgtatgcacactg	10	13	2	0	rs1701950	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51465096C>G	ENST00000376851.3	-	5	925	c.486G>C	c.(484-486)ctG>ctC	p.L162L	KLK6_ENST00000456750.2_Silent_p.L55L|KLK6_ENST00000376853.4_Intron|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.L162L|KLK6_ENST00000391808.1_Silent_p.L55L|KLK6_ENST00000310157.2_Silent_p.L162L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACGGGACACCAGGTGGATGT	0.577													C|||	408	0.0814696	0.1853	0.049	5008	,	,		19122	0.0		0.1024	False		,,,				2504	0.0266				p.L162L		Atlas-SNP	.											.	KLK6	35	.	0			c.G486C						PASS	.		,,	739,3667		59,621,1523	156	120	132		486,165,486	2	1	19	dbSNP_89	132	883,7717		45,793,3462	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK6	NM_001012964.1,NM_001012965.1,NM_002774.3	,,	104,1414,4985	GG,GC,CC		10.2674,16.7726,12.4712	,,	162/245,55/138,162/245	51465096	1622,11384	2203	4300	6503	SO:0001819	synonymous_variant	5653	exon5			GGACACCAGGTGG	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.486G>C	19.37:g.51465096C>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	114	60	0.526316	NM_001012964	A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	CCDS12811.1																																																																																			C|0.883;G|0.117	0.117	strong		0.577	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		G	51465096	C	G	51465096	2	3	23	1	0	0	0	0	0	0	0	1	8408	581	21	4		4	KLK6	19	51465096	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	52430	51465096	7663887	4434	20890										
CD33	945	hgsc.bcm.edu	37	chr19	51729104	51729107	+	Frame_Shift_Del	DEL	CCGG	CCGG	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catccctggcactctagaacCcggccactccaaaaacctga					rs546468173|rs201074739|rs571957160|rs201342074	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CCGG	CCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51729104_51729107delCCGG	ENST00000262262.4	+	3	485_488	c.464_467delCCGG	c.(463-468)cccggcfs	p.PG155fs	CD33_ENST00000391796.3_Frame_Shift_Del_p.PG155fs|CD33_ENST00000421133.2_Frame_Shift_Del_p.PG28fs|CD33_ENST00000436584.2_Frame_Shift_Del_p.PG28fs	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	155	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G156C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ACTCTAGAACCCGGCCACTCCAAA	0.613														29	0.00579073	0.0015	0.0115	5008	,	,		18806	0.0		0.0189	False		,,,				2504	0.0				p.155_156del		Pindel,Atlas-Indel	.											.	CD33	55	.	1	Substitution - Missense(1)	lung(1)	c.463_466del						PASS	.		,,	24,4240		1,22,2109					,,	-6.1	0		dbSNP_131	84	233,8017		5,223,3897	no	frameshift,frameshift,frameshift	CD33	NM_001772.3,NM_001177608.1,NM_001082618.1	,,	6,245,6006	A1A1,A1R,RR		2.8242,0.5629,2.0537	,,	,,		257,12257				SO:0001589	frameshift_variant	945	exon3			.	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.464_467delCCGG	19.37:g.51729104_51729107delCCGG	ENSP00000262262:p.Pro155fs	Somatic	102	.	.		WXS	Illumina HiSeq	Phase_I	92	28	0.304	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Frame_Shift_Del	DEL	ENST00000262262.4	37	CCDS33084.1																																																																																			CCGG|0.992;-|0.008	0.008	strong		0.613	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		-	51729107	CCGG	-	51729104	7	5	23	1	0	1	0	1	0	0	0	0	3005	623	22	0	474	0	CD33	19	51729104	Frame_Shift_Del	DEL	CCGG	TCGA-GR-7353-01A-11D-2210-10	264008	51729104	7399879	4435	20891										
ETFB	2109	hgsc.bcm.edu	37	chr19	51857614	51857615	+	Intron	INS	-	-	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggaaacaggcaagaaggtINSgggggcctcagcgccaaccc					rs55874945|rs141529162|rs74357706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51857614_51857615insG	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000354232.4_Frame_Shift_Ins_p.P93fs	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCAAGAAGGTGGGGGCCTCAG	0.639													GGGGG|GGGGG|GGGGGG|insertion	119	0.023762	0.003	0.0231	5008	,	,		18043	0.0		0.0547	False		,,,				2504	0.045				p.P93fs		Pindel,Atlas-Indel	.											.	ETFB	46	.	0			c.279_280insC						PASS	.		,	34,4230		0,34,2098					,	-1.4	0		dbSNP_129	57	372,7882		10,352,3765	no	intron,frameshift	ETFB	NM_001985.2,NM_001014763.1	,	10,386,5863	A1A1,A1R,RR		4.5069,0.7974,3.2433	,	,		406,12112				SO:0001627	intron_variant	2109	exon1			.	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-52->C	19.37:g.51857619_51857619dupG		Somatic	60	.	.		WXS	Illumina HiSeq	Phase_I	44	13	0.295	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Frame_Shift_Ins	INS	ENST00000309244.4	37	CCDS12828.1																																																																																			-|0.980;G|0.020	0.020	strong		0.639	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			G	51857615	-	G	51857614	6	5	23	0	1	1	1	0	0	0	0	0	5270	1683	59	0		0	ETFB	19	51857614	Intron	INS	-	TCGA-GR-7353-01A-11D-2210-10	128510	51857614	7271369	4436	20892										
ETFB	2109	hgsc.bcm.edu	37	chr19	51857738	51857738	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggttagagtttgtaggcaggGgcaggtcaccctgtctcctt	14	9	2	1	rs79338777	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51857738G>A	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000354232.4_Missense_Mutation_p.P52L	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		tgtaggcagGGGCAGGTCACC	0.582													g|||	387	0.0772764	0.0439	0.0403	5008	,	,		16395	0.1181		0.0696	False		,,,				2504	0.1145				p.P52L		Atlas-SNP	.											.	ETFB	46	.	0			c.C155T						PASS	.	G	LEU/PRO,	196,4210	122.5+/-159.9	3,190,2010	79	72	74		155,	-5.5	0	19	dbSNP_131	74	591,8009	156.7+/-210.5	22,547,3731	yes	missense,intron	ETFB	NM_001014763.1,NM_001985.2	98,	25,737,5741	AA,AG,GG		6.8721,4.4485,6.0511	probably-damaging,	52/347,	51857738	787,12219	2203	4300	6503	SO:0001627	intron_variant	2109	exon1			GGCAGGGGCAGGT	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-176C>T	19.37:g.51857738G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	82	38	0.463415	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	156	0.07142857142857142	23	0.046747967479674794	13	0.03591160220994475	69	0.12062937062937062	51	0.06728232189973615	g	12.18	1.860517	0.32884	0.044485	0.068721	ENSG00000105379	ENST00000354232	D	0.85955	-2.05	2.77	-5.53	0.02552	.	.	.	.	.	T	0.01905	0.0060	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.15954	-1.0419	6	.	.	.	.	1.673	0.02816	0.2749:0.125:0.4452:0.1549	.	52	P38117-2	.	L	52	ENSP00000346173:P52L	.	P	-	2	0	ETFB	56549550	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.733000	0.00803	-1.622000	0.01560	-0.290000	0.09829	CCC	G|0.937;A|0.063	0.063	strong		0.582	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			A	51857738	G	A	51857738	1	1	23	0	1	0	0	0	0	0	0	0	5270	1232	43	2		2	ETFB	19	51857738	Intron	SNP	G	TCGA-GR-7353-01A-11D-2210-10	124	51857738	7271245	4437	20893										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51914401	51914401	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctgggtgcccttgggcatCcgggcctcaggcctgggtct	16	14	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:51914401C>T	ENST00000339313.5	-	11	2162	c.2046G>A	c.(2044-2046)cgG>cgA	p.R682R	SIGLEC10_ENST00000436984.2_Silent_p.R539R|SIGLEC10_ENST00000442846.3_Silent_p.R439R|SIGLEC10_ENST00000439889.2_Silent_p.R624R|SIGLEC10_ENST00000353836.5_Silent_p.R587R|SIGLEC10_ENST00000432469.2_Silent_p.R504R|SIGLEC10_ENST00000441969.3_Silent_p.R529R|SIGLEC10_ENST00000356298.5_Silent_p.R682R|SIGLEC10_ENST00000525998.1_Silent_p.R497R			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	682					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTTGGGCATCCGGGCCTCAG	0.567																																					p.R682R		Atlas-SNP	.											SIGLEC12_ENST00000439889,bladder,carcinoma,-1,2	SIGLEC10	112	2	0			c.G2046A						scavenged	.						112	109	110					19																	51914401		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon11			GGGCATCCGGGCC	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.2046G>A	19.37:g.51914401C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	193	2	0.0103627	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			.	.	none		0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		T	51914401	C	T	51914401	2	4	23	1	0	0	0	0	0	0	0	1	14306	842	30	2		2	SIGLEC10	19	51914401	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	56663	51914401	7214582	4438	20894										
SIGLEC12	89858	hgsc.bcm.edu	37	chr19	52004878	52004878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagcacagagacacacaggCcctcctgcaccgtcacggac	9	16	1	1	rs148809065	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52004878C>T	ENST00000291707.3	-	1	165	c.110G>A	c.(109-111)gGc>gAc	p.G37D	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACACACAGGCCCTCCTGCAC	0.582													c|||	37	0.00738818	0.0008	0.0115	5008	,	,		18708	0.0		0.0199	False		,,,				2504	0.0082				p.G37D		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.G110A						PASS	.	C	ASP/GLY	18,4388		0,18,2185	111	82	92		110	2.1	1	19	dbSNP_134	92	178,8422		3,172,4125	yes	missense	SIGLEC12	NM_053003.2	94	3,190,6310	TT,TC,CC		2.0698,0.4085,1.507	probably-damaging	37/596	52004878	196,12810	2203	4300	6503	SO:0001583	missense	89858	exon1			CACAGGCCCTCCT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.110G>A	19.37:g.52004878C>T	ENSP00000291707:p.Gly37Asp	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	116	51	0.439655	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	21	0.009615384615384616	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	15	0.01978891820580475	.	19.94	3.919078	0.73098	0.004085	0.020698	ENSG00000254521	ENST00000291707	T	0.80393	-1.37	2.09	2.09	0.27110	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85729	0.5764	H	0.96080	3.765	0.25507	N	0.987498	D	0.89917	1.0	D	0.91635	0.999	T	0.76745	-0.2846	9	0.87932	D	0	.	7.6643	0.28421	0.0:1.0:0.0:0.0	.	37	Q96PQ1	SIG12_HUMAN	D	37	ENSP00000291707:G37D	ENSP00000291707:G37D	G	-	2	0	SIGLEC12	56696690	0.981000	0.34729	0.979000	0.43373	0.737000	0.42083	2.505000	0.45424	1.173000	0.42796	0.503000	0.49774	GGC	C|0.988;T|0.012	0.012	strong		0.582	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		T	52004878	C	T	52004878	3	4	23	1	0	0	0	0	1	0	0	0	14308	739	26	2	1782	2	SIGLEC12	19	52004878	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	90477	52004878	7124105	4439	20895										
ZNF175	7728	hgsc.bcm.edu	37	chr19	52085095	52085095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgctaaaagaaaaggagccGcgtgtggaggaggctgaagt	16	5	0	2	rs35431178	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52085095G>A	ENST00000262259.2	+	4	613	c.255G>A	c.(253-255)ccG>ccA	p.P85P	ZNF175_ENST00000436511.2_Silent_p.P85P	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAAAGGAGCCGCGTGTGGAGG	0.458													g|||	231	0.0461262	0.0303	0.072	5008	,	,		18263	0.002		0.1083	False		,,,				2504	0.0307				p.P85P		Atlas-SNP	.											.	ZNF175	65	.	0			c.G255A						PASS	.	A		172,4234	113.8+/-151.8	3,166,2034	85	78	80		255	-1.2	0	19	dbSNP_126	80	992,7608	213.6+/-253.5	62,868,3370	yes	coding-synonymous	ZNF175	NM_007147.2		65,1034,5404	AA,AG,GG		11.5349,3.9038,8.9497		85/712	52085095	1164,11842	2203	4300	6503	SO:0001819	synonymous_variant	7728	exon4			GGAGCCGCGTGTG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.255G>A	19.37:g.52085095G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	89	35	0.393258	NM_007147	A8K9H2	Silent	SNP	ENST00000262259.2	37	CCDS12837.1																																																																																			G|0.916;A|0.084	0.084	strong		0.458	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		A	52085095	G	A	52085095	2	1	23	1	0	0	0	0	0	0	0	1	17742	1074	38	1		1	ZNF175	19	52085095	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	80217	52085095	7043888	4440	20896										
SIGLEC5	8778	hgsc.bcm.edu	37	chr19	52115645	52115645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagatgcttgatctccggGgctgtctggccagggcttct	15	10	3	2	rs3829655	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52115645G>C	ENST00000534261.2	-	10	1894	c.1495C>G	c.(1495-1497)Ccc>Gcc	p.P499A	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P499A|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P499A|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.P499A|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P499A			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGATCTCCGGGGCTGTCTGGC	0.498													G|||	2180	0.435304	0.3275	0.4683	5008	,	,		19086	0.5794		0.4225	False		,,,				2504	0.4223				p.P499A		Atlas-SNP	.											.	SIGLEC5	67	.	0			c.C1495G						PASS	.	G	ALA/PRO	1423,2983	460.7+/-352.7	244,935,1024	72	75	74		1495	-1.3	0	19	dbSNP_107	74	3753,4847	527.6+/-381.2	800,2153,1347	yes	missense	SIGLEC5	NM_003830.2	27	1044,3088,2371	CC,CG,GG		43.6395,32.2969,39.797	benign	499/552	52115645	5176,7830	2203	4300	6503	SO:0001583	missense	8778	exon9			CTCCGGGGCTGTC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1495C>G	19.37:g.52115645G>C	ENSP00000473238:p.Pro499Ala	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	111	54	0.486486	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	970	0.4441391941391941	151	0.30691056910569103	166	0.4585635359116022	319	0.5576923076923077	334	0.44063324538258575	G	8.436	0.849683	0.17034	0.322969	0.436395	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.59364	0.27;0.27	3.52	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	M	0.64567	1.98	0.80722	P	0.0	P	0.52463	0.953	B	0.42462	0.388	T	0.40270	-0.9572	8	0.52906	T	0.07	.	1.8675	0.03201	0.1081:0.1749:0.3589:0.3581	rs3829655;rs17852717;rs3829655	499	O15389	SIGL5_HUMAN	A	499	ENSP00000222107:P499A;ENSP00000415200:P499A	ENSP00000222107:P499A	P	-	1	0	SIGLEC5	56807457	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	0.278000	0.18753	-0.109000	0.12044	-0.152000	0.13540	CCC	G|0.577;C|0.423	0.423	strong		0.498	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		C	52115645	G	C	52115645	3	2	23	1	0	0	0	0	1	0	0	0	14311	1232	43	4	164	4	SIGLEC5	19	52115645	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	30550	52115645	7013338	4441	20897										
HAS1	3036	hgsc.bcm.edu	37	chr19	52220351	52220351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagggttaaggatccgcacGtccccaccaacagcccctac	9	16	0	1	rs11084111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52220351G>A	ENST00000222115.1	-	3	832	c.798C>T	c.(796-798)gaC>gaT	p.D266D	HAS1_ENST00000540069.2_Silent_p.D265D|HAS1_ENST00000594621.1_Silent_p.D120D|HAS1_ENST00000601714.1_Silent_p.D273D	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	266					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGATCCGCACGTCCCCACCAA	0.607													g|||	893	0.178315	0.1263	0.098	5008	,	,		17074	0.4435		0.1123	False		,,,				2504	0.1002				p.D266D	NSCLC(132;636 2450 45807 47979)	Atlas-SNP	.											.	HAS1	61	.	0			c.C798T						PASS	.			578,3828	257.4+/-261.8	43,492,1668	101	96	98		798	-2.1	0.9	19	dbSNP_120	98	772,7828	182.6+/-231.0	22,728,3550	no	coding-synonymous	HAS1	NM_001523.2		65,1220,5218	AA,AG,GG		8.9767,13.1185,10.3798		266/579	52220351	1350,11656	2203	4300	6503	SO:0001819	synonymous_variant	3036	exon3			CCGCACGTCCCCA	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.798C>T	19.37:g.52220351G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	76	32	0.421053	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																			G|0.855;A|0.145	0.145	strong		0.607	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52220351	G	A	52220351	2	1	23	1	0	0	0	0	0	0	0	1	6961	1136	40	1		1	HAS1	19	52220351	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	104706	52220351	6908632	4442	20898										
FPR2	2358	hgsc.bcm.edu	37	chr19	52272903	52272903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgtctgaggactcagcccCaactaatgacacggctgcca	9	15	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52272903C>T	ENST00000598776.1	+	2	1764	c.992C>T	c.(991-993)cCa>cTa	p.P331L	FPR2_ENST00000598953.1_Missense_Mutation_p.P331L|FPR2_ENST00000340023.6_Missense_Mutation_p.P331L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GACTCAGCCCCAACTAATGAC	0.537																																					p.P331L		Atlas-SNP	.											FPR2,NS,carcinoma,+1,1	FPR2	66	1	0			c.C992T						scavenged	.						69	66	67					19																	52272903		2203	4300	6503	SO:0001583	missense	2358	exon2			CAGCCCCAACTAA	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.992C>T	19.37:g.52272903C>T	ENSP00000468897:p.Pro331Leu	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	105	3	0.0285714	NM_001005738	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	3.845	-0.032930	0.07543	.	.	ENSG00000171049	ENST00000340023	T	0.36699	1.24	4.49	-6.34	0.01982	.	1.078530	0.07198	U	0.856927	T	0.15739	0.0379	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.23891	T	0.37	.	11.0913	0.48117	0.2813:0.6157:0.0:0.1029	.	331	P25090	FPR2_HUMAN	L	331	ENSP00000340191:P331L	ENSP00000340191:P331L	P	+	2	0	FPR2	56964715	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.196000	0.09532	-0.941000	0.03700	-0.350000	0.07774	CCA	.	.	none		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		T	52272903	C	T	52272903	3	4	23	1	0	0	0	0	1	0	0	0	6039	594	21	2	994	2	FPR2	19	52272903	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	52552	52272903	6856080	4443	20899										
FPR3	2359	hgsc.bcm.edu	37	chr19	52327479	52327479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatagtccttaccttaccaAatttcatcttctggactaca	3	13	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52327479A>T	ENST00000339223.4	+	2	657	c.478A>T	c.(478-480)Aat>Tat	p.N160Y	FPR3_ENST00000595991.1_Missense_Mutation_p.N160Y	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	160					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCTTACCAAATTTCATCTT	0.478																																					p.N160Y		Atlas-SNP	.											.	FPR3	66	.	0			c.A478T						PASS	.						134	122	126					19																	52327479		2203	4300	6503	SO:0001583	missense	2359	exon2			TTACCAAATTTCA		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.478A>T	19.37:g.52327479A>T	ENSP00000341821:p.Asn160Tyr	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	243	97	0.399177	NM_002030		Missense_Mutation	SNP	ENST00000339223.4	37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.601169	0.00123	.	.	ENSG00000187474	ENST00000339223	T	0.36520	1.25	2.34	-4.67	0.03319	GPCR, rhodopsin-like superfamily (1);	0.726121	0.12818	N	0.436647	T	0.08268	0.0206	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.16722	0.016	T	0.19712	-1.0297	10	0.02654	T	1	.	6.9341	0.24457	0.6963:0.0:0.1696:0.1341	.	160	P25089	FPR3_HUMAN	Y	160	ENSP00000341821:N160Y	ENSP00000341821:N160Y	N	+	1	0	FPR3	57019291	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.708000	0.05035	-1.822000	0.01211	-1.486000	0.00981	AAT	.	.	none		0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		T	52327479	A	T	52327479	3	4	23	1	0	0	0	0	1	0	0	0	6040	14	1	5	480	5	FPR3	19	52327479	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	54576	52327479	6801504	4444	20900										
ZNF615	284370	hgsc.bcm.edu	37	chr19	52505463	52505463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgtcccggtacaggtccttCtgagcagggctcaggaactg	13	12	2	1	rs151263298	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52505463C>T	ENST00000602063.1	-	4	436	c.87G>A	c.(85-87)caG>caA	p.Q29Q	ZNF615_ENST00000598071.1_Silent_p.Q29Q|ZNF615_ENST00000391795.3_Silent_p.Q34Q|ZNF615_ENST00000376716.5_Silent_p.Q29Q|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000597747.1_Silent_p.Q29Q|ZNF615_ENST00000594083.1_Silent_p.Q29Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAGGTCCTTCTGAGCAGGGC	0.547													C|||	97	0.019369	0.003	0.013	5008	,	,		16855	0.0		0.0497	False		,,,				2504	0.0348				p.Q29Q		Atlas-SNP	.											.	ZNF615	111	.	0			c.G87A						PASS	.	C	,	43,4363	45.3+/-79.5	0,43,2160	182	167	173		87,87	1	0.5	19	dbSNP_134	173	441,8159	133.8+/-191.2	8,425,3867	no	coding-synonymous,coding-synonymous	ZNF615	NM_001199324.1,NM_198480.3	,	8,468,6027	TT,TC,CC		5.1279,0.9759,3.7214	,	29/743,29/732	52505463	484,12522	2203	4300	6503	SO:0001819	synonymous_variant	284370	exon4			GTCCTTCTGAGCA	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.87G>A	19.37:g.52505463C>T		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	190	104	0.547368	NM_001199324	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																			C|0.966;T|0.034	0.034	strong		0.547	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		T	52505463	C	T	52505463	2	4	23	1	0	0	0	0	0	0	0	1	18037	912	32	2		2	ZNF615	19	52505463	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	177984	52505463	6623520	4445	20901										
ZNF480	147657	hgsc.bcm.edu	37	chr19	52825032	52825032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtcttccagtgtcaaaaccCccatttttaataggaatgat	6	9	2	1	rs13343641	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52825032C>T	ENST00000595962.1	+	5	595	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	ZNF480_ENST00000335090.6_Missense_Mutation_p.P100S|ZNF480_ENST00000334564.7_Missense_Mutation_p.P134S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	177			P -> S (in dbSNP:rs13343641).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTCAAAACCCCCATTTTTAA	0.343													C|||	841	0.167931	0.1203	0.1513	5008	,	,		19266	0.2292		0.2177	False		,,,				2504	0.1299				p.P177S		Atlas-SNP	.											.	ZNF480	123	.	0			c.C529T						PASS	.	C	SER/PRO	610,3796	265.0+/-266.4	47,516,1640	84	82	83		529	-2.5	0	19	dbSNP_121	83	1736,6864	313.7+/-311.4	167,1402,2731	yes	missense	ZNF480	NM_144684.2	74	214,1918,4371	TT,TC,CC		20.186,13.8448,18.0378	benign	177/536	52825032	2346,10660	2203	4300	6503	SO:0001583	missense	147657	exon5			AAAACCCCCATTT	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.529C>T	19.37:g.52825032C>T	ENSP00000471754:p.Pro177Ser	Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	311	128	0.411576	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	CCDS12850.2	401	0.18360805860805862	57	0.11585365853658537	60	0.16574585635359115	124	0.21678321678321677	160	0.21108179419525067	C	8.368	0.834575	0.16820	0.138448	0.20186	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.06142	3.48;3.43;3.34	2.02	-2.54	0.06307	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.29716	0.026;0.255	B;B	0.26614	0.005;0.071	T	0.47774	-0.9091	8	0.72032	D	0.01	.	0.1334	0.00076	0.3098:0.2659:0.1932:0.2311	rs13343641;rs52836994;rs58264265;rs13343641	134;177	F8WEZ9;Q8WV37	.;ZN480_HUMAN	S	177;134;100	ENSP00000417424:P177S;ENSP00000334164:P134S;ENSP00000335670:P100S	ENSP00000334164:P134S	P	+	1	0	ZNF480	57516844	0.000000	0.05858	0.006000	0.13384	0.571000	0.35966	-0.315000	0.08081	-0.333000	0.08476	0.313000	0.20887	CCC	C|0.820;T|0.180	0.180	strong		0.343	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		T	52825032	C	T	52825032	3	4	23	1	0	0	0	0	1	0	0	0	17932	623	22	2	543	2	ZNF480	19	52825032	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	319569	52825032	6303951	4446	20902										
ZNF480	147657	hgsc.bcm.edu	37	chr19	52825235	52825235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggtctttagtcgcaattcAcaccttgcagaacattgtag	8	9	2	1	rs8102373	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52825235A>G	ENST00000595962.1	+	5	798	c.732A>G	c.(730-732)tcA>tcG	p.S244S	ZNF480_ENST00000335090.6_Silent_p.S167S|ZNF480_ENST00000334564.7_Silent_p.S201S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTCGCAATTCACACCTTGCAG	0.368													A|||	2636	0.526358	0.5371	0.5101	5008	,	,		20260	0.3998		0.6123	False		,,,				2504	0.5654				p.S244S		Atlas-SNP	.											ZNF480_ENST00000468240,NS,carcinoma,+1,2	ZNF480	123	2	0			c.A732G						PASS	.	A		2320,2086	586.1+/-386.4	622,1076,505	41	41	41		732	-2	0	19	dbSNP_116	41	5037,3563	616.4+/-396.5	1472,2093,735	no	coding-synonymous	ZNF480	NM_144684.2		2094,3169,1240	GG,GA,AA		41.4302,47.3445,43.4338		244/536	52825235	7357,5649	2203	4300	6503	SO:0001819	synonymous_variant	147657	exon5			CAATTCACACCTT	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.732A>G	19.37:g.52825235A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	118	44	0.372881	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	CCDS12850.2																																																																																			A|0.449;G|0.551	0.551	strong		0.368	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		G	52825235	A	G	52825235	2	3	23	1	0	0	0	0	0	0	0	1	17932	146	6	2		2	ZNF480	19	52825235	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	203	52825235	6303748	4447	20903										
ZNF534	147658	hgsc.bcm.edu	37	chr19	52937339	52937339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacctggtctccctaggtgaGgataatgtccgtccagaagc	11	11	1	2	rs17780173	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:52937339G>A	ENST00000332323.6	+	2	208	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CCCTAGGTGAGGATAATGTCC	0.488													G|||	1248	0.249201	0.1165	0.2579	5008	,	,		18246	0.4772		0.1282	False		,,,				2504	0.3119				p.E49E		Atlas-SNP	.											.	ZNF534	105	.	0			c.G147A						PASS	.	G	,	422,2714		28,366,1174	103	99	100		,147	1	0.4	19	dbSNP_123	100	795,6369		40,715,2827	no	intron,coding-synonymous	ZNF534	NM_001143938.1,NM_001143939.1	,	68,1081,4001	AA,AG,GG		11.0972,13.4566,11.8155	,	,49/675	52937339	1217,9083	1568	3582	5150	SO:0001819	synonymous_variant	147658	exon2			AGGTGAGGATAAT	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.147G>A	19.37:g.52937339G>A		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	243	96	0.395062	NM_001143939	Q76KX9	Silent	SNP	ENST00000332323.6	37	CCDS46165.1																																																																																			G|0.765;A|0.235	0.235	strong		0.488	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		A	52937339	G	A	52937339	2	1	23	1	0	0	0	0	0	0	0	1	17970	991	35	2		2	ZNF534	19	52937339	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	112104	52937339	6191644	4448	20904										
ZNF808	388558	hgsc.bcm.edu	37	chr19	53057479	53057479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaatgtgacaaagttttcaGtcagaaatcaacccttgaga	8	7	3	4	rs61746334	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53057479G>A	ENST00000359798.4	+	5	1490	c.1310G>A	c.(1309-1311)aGt>aAt	p.S437N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAAGTTTTCAGTCAGAAATCA	0.373													A|||	347	0.0692891	0.1551	0.0648	5008	,	,		22149	0.0079		0.0706	False		,,,				2504	0.0184				p.S437N		Atlas-SNP	.											.	ZNF808	81	.	0			c.G1310A						PASS	.	A	ASN/SER	521,3861		27,467,1697	45	50	48		1310	-2.8	0	19	dbSNP_129	48	596,7990		17,562,3714	no	missense	ZNF808	NM_001039886.3	46	44,1029,5411	AA,AG,GG		6.9415,11.8895,8.6135	benign	437/904	53057479	1117,11851	2191	4293	6484	SO:0001583	missense	388558	exon5			TTTTCAGTCAGAA	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1310G>A	19.37:g.53057479G>A	ENSP00000352846:p.Ser437Asn	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	77	41	0.532468	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	160	0.07326007326007326	75	0.1524390243902439	27	0.07458563535911603	7	0.012237762237762238	51	0.06728232189973615	.	0.011	-1.702933	0.00719	0.118895	0.069415	ENSG00000198482	ENST00000359798	T	0.19394	2.15	1.4	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	L	0.55743	1.74	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.28776	-1.0033	8	0.25751	T	0.34	.	1.1063	0.01694	0.2943:0.139:0.3979:0.1688	rs61746334	437	Q8N4W9	ZN808_HUMAN	N	437	ENSP00000352846:S437N	ENSP00000352846:S437N	S	+	2	0	ZNF808	57749291	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.386000	0.00011	-4.610000	0.00040	-3.754000	0.00022	AGT	G|0.924;A|0.076	0.076	strong		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		A	53057479	G	A	53057479	3	1	23	1	0	0	0	0	1	0	0	0	18170	1029	36	2	1320	2	ZNF808	19	53057479	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	120140	53057479	6071504	4449	20905										
ZNF701	55762	hgsc.bcm.edu	37	chr19	53085813	53085813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtaatcaagttgagaaggcTatcaacgatgctttctcagt	10	7	3	1	rs3745101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53085813T>C	ENST00000540331.1	+	5	924	c.699T>C	c.(697-699)gcT>gcC	p.A233A	ZNF701_ENST00000391785.3_Silent_p.A167A|ZNF701_ENST00000301093.2_Silent_p.A233A|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	233					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TTGAGAAGGCTATCAACGATG	0.388													T|||	1451	0.289736	0.0522	0.2839	5008	,	,		21445	0.3681		0.3608	False		,,,				2504	0.4611				p.A233A	NSCLC(89;451 1475 9611 20673 52284)	Atlas-SNP	.											.	ZNF701	44	.	0			c.T699C						PASS	.	T	,	405,4001	201.8+/-224.7	17,371,1815	73	71	71		699,501	0.7	0	19	dbSNP_107	71	3369,5231	494.5+/-373.8	635,2099,1566	no	coding-synonymous,coding-synonymous	ZNF701	NM_001172655.1,NM_018260.2	,	652,2470,3381	CC,CT,TT		39.1744,9.192,29.0174	,	233/532,167/466	53085813	3774,9232	2203	4300	6503	SO:0001819	synonymous_variant	55762	exon5			GAAGGCTATCAAC	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.699T>C	19.37:g.53085813T>C		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	151	71	0.470199	NM_001172655	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																			T|0.704;C|0.296	0.296	strong		0.388	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		C	53085813	T	C	53085813	2	2	23	1	0	0	0	0	0	0	0	1	18102	1509	53	3		3	ZNF701	19	53085813	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	28334	53085813	6043170	4450	20906										
ZNF701	55762	hgsc.bcm.edu	37	chr19	53086485	53086485	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgagtgtggcaagaccttTgttcaaaattcatctcttgt	8	7	3	2	rs62117247	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53086485T>C	ENST00000540331.1	+	5	1596	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	ZNF701_ENST00000391785.3_Silent_p.F391F|ZNF701_ENST00000301093.2_Silent_p.F457F|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	457					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GCAAGACCTTTGTTCAAAATT	0.383													t|||	124	0.0247604	0.0166	0.036	5008	,	,		22678	0.001		0.0636	False		,,,				2504	0.0123				p.F457F	NSCLC(89;451 1475 9611 20673 52284)	Atlas-SNP	.											.	ZNF701	44	.	0			c.T1371C						PASS	.						57	58	57					19																	53086485		2201	4295	6496	SO:0001819	synonymous_variant	55762	exon5			GACCTTTGTTCAA	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1371T>C	19.37:g.53086485T>C		Somatic	520	0	0		WXS	Illumina HiSeq	Phase_I	370	125	0.337838	NM_001172655	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																			T|0.961;C|0.039	0.039	strong		0.383	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		C	53086485	T	C	53086485	2	2	23	1	0	0	0	0	0	0	0	1	18102	1809	63	2		2	ZNF701	19	53086485	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	672	53086485	6042498	4451	20907										
ZNF28	7576	hgsc.bcm.edu	37	chr19	53303890	53303890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttctctccagtatgaatcCtcttatgtctttcaagatgt	6	9	4	2	rs57548937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53303890C>G	ENST00000457749.2	-	4	1327	c.1208G>C	c.(1207-1209)aGg>aCg	p.R403T	ZNF28_ENST00000414252.2_Missense_Mutation_p.R350T|ZNF28_ENST00000360272.4_Missense_Mutation_p.R350T|ZNF28_ENST00000438150.2_Missense_Mutation_p.R350T	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	403				R -> T (in Ref. 1; BAD18706 and 2; CAI46258). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGTATGAATCCTCTTATGTCT	0.378													-|||	981	0.195887	0.0045	0.0764	5008	,	,		22502	0.5774		0.0845	False		,,,				2504	0.2607				p.R403T		Atlas-SNP	.											.	ZNF28	191	.	0			c.G1208C						PASS	.	C	THR/ARG	105,4301		1,103,2099	104	110	108		1208	-2.9	0	19	dbSNP_129	108	781,7819		38,705,3557	no	missense	ZNF28	NM_006969.3	71	39,808,5656	GG,GC,CC		9.0814,2.3831,6.8122	possibly-damaging	403/719	53303890	886,12120	2203	4300	6503	SO:0001583	missense	7576	exon4			TGAATCCTCTTAT	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1208G>C	19.37:g.53303890C>G	ENSP00000397693:p.Arg403Thr	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	79	35	0.443038	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	437	0.2000915750915751	4	0.008130081300813009	29	0.08011049723756906	335	0.5856643356643356	69	0.09102902374670185	-	10.32	1.317047	0.23908	0.023831	0.090814	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	1.75	-2.87	0.05700	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.74647	2.275	0.80722	P	0.0	B	0.31274	0.317	B	0.27170	0.077	T	0.39461	-0.9613	8	0.51188	T	0.08	.	4.3917	0.11343	0.0:0.4204:0.1714:0.4082	rs57548937	403	P17035	ZNF28_HUMAN	T	350;403;350;350;350	ENSP00000412143:R350T;ENSP00000397693:R403T;ENSP00000353410:R350T;ENSP00000444965:R350T;ENSP00000375661:R350T	ENSP00000353410:R350T	R	-	2	0	ZNF28	57995702	0.000000	0.05858	0.008000	0.14137	0.148000	0.21650	-1.266000	0.02842	-0.737000	0.04824	0.196000	0.17591	AGG	C|0.898;G|0.102	0.102	strong		0.378	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		G	53303890	C	G	53303890	3	3	23	1	0	0	0	0	1	0	0	0	17810	681	24	4	952	4	ZNF28	19	53303890	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	217405	53303890	5825093	4452	20908										
ZNF468	90333	hgsc.bcm.edu	37	chr19	53344118	53344118	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tataagcgatgatgtctgacCgaaggtcttgccacactcat	9	10	3	2	rs10419826	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53344118C>G	ENST00000595646.1	-	4	1549	c.1429G>C	c.(1429-1431)Ggt>Cgt	p.G477R	ZNF468_ENST00000390651.4_Missense_Mutation_p.G424R|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.G424R			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	477			G -> R (in dbSNP:rs10419826).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G477R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GATGTCTGACCGAAGGTCTTG	0.453													-|||	2904	0.579872	0.8041	0.6326	5008	,	,		21287	0.3254		0.4135	False		,,,				2504	0.6728				p.G477R		Atlas-SNP	.											ZNF468,NS,carcinoma,0,1	ZNF468	46	1	1	Substitution - Missense(1)	stomach(1)	c.G1429C						scavenged	.	G	ARG/GLY,ARG/GLY	3208,1198		1214,780,209	109	138	128		1429,1270	0.9	0	19	dbSNP_119	128	3625,4963		836,1953,1505	no	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	125,125	2050,2733,1714	GG,GC,CC		42.2101,27.1902,47.4142	benign,benign	477/523,424/470	53344118	6833,6161	2203	4294	6497	SO:0001583	missense	90333	exon4			TCTGACCGAAGGT	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1429G>C	19.37:g.53344118C>G	ENSP00000470381:p.Gly477Arg	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	145	52	0.358621	NM_001008801	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	983	0.4500915750915751	320	0.6504065040650406	191	0.5276243093922652	194	0.33916083916083917	278	0.36675461741424803	-	1.040	-0.679015	0.03378	0.728098	0.422101	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.07327	3.2;3.2	1.99	0.854	0.19007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.04320	-0.23	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06197	-1.0840	8	0.23891	T	0.37	.	4.2223	0.10563	0.0:0.1304:0.2093:0.6602	rs10419826;rs57381965	477	Q5VIY5	ZN468_HUMAN	R	477;424;424	ENSP00000379690:G424R;ENSP00000445669:G424R	ENSP00000243639:G477R	G	-	1	0	ZNF468	58035930	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.884000	0.01622	-0.405000	0.07599	-2.606000	0.00160	GGT	C|0.485;G|0.515	0.515	strong		0.453	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		G	53344118	C	G	53344118	3	3	23	1	0	0	0	0	1	0	0	0	17925	652	23	4	143	4	ZNF468	19	53344118	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	40228	53344118	5784865	4453	20909										
ZNF468	90333	hgsc.bcm.edu	37	chr19	53344701	53344701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaatgaagagggatgaattAtgaccaaaggtcttgccaca	11	6	1	5	rs10420793	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53344701A>G	ENST00000595646.1	-	4	966	c.846T>C	c.(844-846)caT>caC	p.H282H	ZNF468_ENST00000390651.4_Silent_p.H229H|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Silent_p.H229H			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H282H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GGGATGAATTATGACCAAAGG	0.418													-|||	1803	0.360024	0.562	0.2752	5008	,	,		21073	0.1101		0.2674	False		,,,				2504	0.5				p.H282H		Atlas-SNP	.											ZNF468,NS,carcinoma,0,1	ZNF468	46	1	1	Substitution - coding silent(1)	stomach(1)	c.T846C						scavenged	.	G	,	2294,2112		583,1128,492	125	116	119		846,687	-3.5	0	19	dbSNP_119	119	2537,6063		380,1777,2143	no	coding-synonymous,coding-synonymous	ZNF468	NM_001008801.1,NM_199132.1	,	963,2905,2635	GG,GA,AA		29.5,47.9346,37.1444	,	282/523,229/470	53344701	4831,8175	2203	4300	6503	SO:0001819	synonymous_variant	90333	exon4			TGAATTATGACCA	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.846T>C	19.37:g.53344701A>G		Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	104	55	0.528846	NM_001008801	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																			A|0.649;G|0.351	0.351	strong		0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		G	53344701	A	G	53344701	2	3	23	1	0	0	0	0	0	0	0	1	17925	446	16	2		2	ZNF468	19	53344701	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	583	53344701	5784282	4454	20910										
ZNF468	90333	hgsc.bcm.edu	37	chr19	53344919	53344919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaaaagatttttctctcaTgtgtacttcccatttttgtg	5	8	3	1	rs58239286	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53344919T>G	ENST00000595646.1	-	4	748	c.628A>C	c.(628-630)Atg>Ctg	p.M210L	ZNF468_ENST00000390651.4_Missense_Mutation_p.M157L|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.M157L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TTTTCTCTCATGTGTACTTCC	0.323													-|||	1114	0.222444	0.3238	0.1326	5008	,	,		20903	0.0605		0.1491	False		,,,				2504	0.3916				p.M210L		Atlas-SNP	.											.	ZNF468	46	.	0			c.A628C						PASS	.	T	LEU/MET,LEU/MET	1348,3058	442.9+/-346.8	205,938,1060	85	86	86		628,469	0.3	0	19	dbSNP_129	86	1599,7001	294.2+/-301.7	152,1295,2853	yes	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	15,15	357,2233,3913	GG,GT,TT		18.593,30.5946,22.6588	benign,benign	210/523,157/470	53344919	2947,10059	2203	4300	6503	SO:0001583	missense	90333	exon4			CTCTCATGTGTAC	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.628A>C	19.37:g.53344919T>G	ENSP00000470381:p.Met210Leu	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	163	82	0.503067	NM_001008801	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	368	0.1684981684981685	162	0.32926829268292684	59	0.16298342541436464	32	0.055944055944055944	115	0.1517150395778364	t	6.884	0.532532	0.13127	0.305946	0.18593	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.13901	2.55;2.55	1.38	0.328	0.15918	.	.	.	.	.	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.45877	-0.9231	8	0.66056	D	0.02	.	4.4541	0.11635	0.0:0.2097:0.0:0.7903	rs58239286;rs61744274	210	Q5VIY5	ZN468_HUMAN	L	210;157;157	ENSP00000379690:M157L;ENSP00000445669:M157L	ENSP00000243639:M210L	M	-	1	0	ZNF468	58036731	0.128000	0.22383	0.000000	0.03702	0.153000	0.21895	0.706000	0.25690	0.043000	0.15746	0.147000	0.16070	ATG	T|0.795;G|0.205	0.205	strong		0.323	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		G	53344919	T	G	53344919	3	3	23	1	0	0	0	0	1	0	0	0	17925	1464	51	5	944	5	ZNF468	19	53344919	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	218	53344919	5784064	4455	20911										
ZNF816A	125893	hgsc.bcm.edu	37	chr19	53454543	53454543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggagttcaggcagatgcGaatgaaagcttaatccaagc	12	7	1	2	rs11084210	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53454543G>A	ENST00000357666.4	-	5	785	c.485C>T	c.(484-486)tCg>tTg	p.S162L	ZNF816_ENST00000444460.2_Missense_Mutation_p.S162L|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	162			S -> L (in dbSNP:rs11084210). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGGCAGATGCGAATGAAAGCT	0.403													a|||	732	0.146166	0.2466	0.085	5008	,	,		19862	0.2163		0.0437	False		,,,				2504	0.0869				p.S162L		Atlas-SNP	.											.	ZNF816	73	.	0			c.C485T						PASS	.	G	LEU/SER,LEU/SER,LEU/SER,	855,3551		77,701,1425	161	170	167		485,485,485,	0.1	0	19	dbSNP_120	167	397,8203		9,379,3912	yes	missense,missense,missense,intron	ZNF816,ZNF816-ZNF321P	NM_001031665.2,NM_001202456.1,NM_001202457.1,NM_001202473.1	145,145,145,	86,1080,5337	AA,AG,GG		4.6163,19.4054,9.6263	benign,benign,benign,	162/652,162/652,162/652,	53454543	1252,11754	2203	4300	6503	SO:0001583	missense	125893	exon4			AGATGCGAATGAA	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.485C>T	19.37:g.53454543G>A	ENSP00000350295:p.Ser162Leu	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	112	56	0.5	NM_001202457	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	298	0.13644688644688643	115	0.23373983739837398	29	0.08011049723756906	122	0.21328671328671328	32	0.04221635883905013	-	4.247	0.044860	0.08196	0.194054	0.046163	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06068	3.35;3.35	1.3	0.084	0.14436	.	.	.	.	.	T	0.00012	0.0000	L	0.58354	1.805	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.37709	-0.9694	8	0.46703	T	0.11	.	3.8846	0.09093	0.2687:0.0:0.7313:0.0	rs11084210;rs60109951;rs11084210	162	Q0VGE8	ZN816_HUMAN	L	162	ENSP00000350295:S162L;ENSP00000403266:S162L	ENSP00000350295:S162L	S	-	2	0	ZNF816	58146355	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.626000	0.05527	-0.141000	0.11374	-1.026000	0.02426	TCG	A|0.112;C|0.000;G|0.888	0.112	strong		0.403	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		A	53454543	G	A	53454543	3	1	23	1	0	0	0	0	1	0	0	0	18174	1059	37	1	1474	1	ZNF816A	19	53454543	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	109624	53454543	5674440	4456	20912										
ZNF665	79788	hgsc.bcm.edu	37	chr19	53668697	53668697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagaccttgccacattcaTtacatttgtaaggtttttct	6	8	2	2	rs45499997	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53668697T>C	ENST00000600412.1	-	2	966	c.851A>G	c.(850-852)aAt>aGt	p.N284S	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.N349S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GCCACATTCATTACATTTGTA	0.438													T|||	140	0.0279553	0.003	0.1254	5008	,	,		22847	0.0		0.0457	False		,,,				2504	0.0031				p.N349S		Atlas-SNP	.											.	ZNF665	136	.	0			c.A1046G						PASS	.	T	SER/ASN	57,4349	57.4+/-93.9	2,53,2148	103	105	104		1046	-1.5	0	19	dbSNP_127	104	593,8007	156.4+/-210.3	17,559,3724	yes	missense	ZNF665	NM_024733.3	46	19,612,5872	CC,CT,TT		6.8953,1.2937,4.9977	benign	349/679	53668697	650,12356	2203	4300	6503	SO:0001583	missense	79788	exon4			CATTCATTACATT		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.851A>G	19.37:g.53668697T>C	ENSP00000469154:p.Asn284Ser	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	134	80	0.597015	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		81	0.03708791208791209	2	0.0040650406504065045	42	0.11602209944751381	0	0.0	37	0.048812664907651716	T	8.778	0.927527	0.18056	0.012937	0.068953	ENSG00000197497	ENST00000396424	T	0.16324	2.35	2.94	-1.48	0.08745	.	.	.	.	.	T	0.00109	0.0003	N	0.01656	-0.775	0.09310	N	1	P	0.48911	0.917	P	0.52793	0.709	T	0.21690	-1.0238	9	0.27785	T	0.31	.	4.8859	0.13703	0.3:0.0:0.4479:0.2521	rs45499997	349	Q9H7R5-2	.	S	349	ENSP00000379702:N349S	ENSP00000379702:N349S	N	-	2	0	ZNF665	58360509	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-4.075000	0.00300	-0.228000	0.09869	0.358000	0.22013	AAT	T|0.958;C|0.042	0.042	strong		0.438	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		C	53668697	T	C	53668697	3	2	23	1	0	0	0	0	1	0	0	0	18070	1493	52	2	994	2	ZNF665	19	53668697	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	214154	53668697	5460286	4457	20913										
VN1R2	317701	hgsc.bcm.edu	37	chr19	53761857	53761857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctttatttctacactctcttGtctctgcacacggagagaaa	6	11	3	1	rs112986288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53761857G>T	ENST00000341702.3	+	1	313	c.229G>T	c.(229-231)Gtc>Ttc	p.V77F		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	77					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		acactctcttgtctctgcaca	0.483													G|||	37	0.00738818	0.0	0.0072	5008	,	,		16666	0.0		0.0139	False		,,,				2504	0.0184				p.V77F		Atlas-SNP	.											.	VN1R2	71	.	0			c.G229T						PASS	.	G	PHE/VAL	8,4376		0,8,2184	35	35	35		229	0.1	0	19	dbSNP_132	35	78,8498		1,76,4211	no	missense	VN1R2	NM_173856.2	50	1,84,6395	TT,TG,GG		0.9095,0.1825,0.6636	benign	77/396	53761857	86,12874	2192	4288	6480	SO:0001583	missense	317701	exon1			TCTCTTGTCTCTG	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.229G>T	19.37:g.53761857G>T	ENSP00000351244:p.Val77Phe	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	22	0.4	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	13	0.005952380952380952	0	0.0	4	0.011049723756906077	0	0.0	9	0.011873350923482849	G	5.291	0.239112	0.10023	0.001825	0.009095	ENSG00000196131	ENST00000341702	T	0.10192	2.9	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.12837	0.008	T	0.38001	-0.9681	9	0.72032	D	0.01	.	2.6651	0.05041	0.4852:0.0:0.5147:0.0	.	77	Q8NFZ6	VN1R2_HUMAN	F	77	ENSP00000351244:V77F	ENSP00000351244:V77F	V	+	1	0	VN1R2	58453669	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	-1.105000	0.03323	0.132000	0.18615	0.134000	0.15878	GTC	G|0.994;T|0.006	0.006	strong		0.483	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		T	53761857	G	T	53761857	3	4	23	1	0	0	0	0	1	0	0	0	17176	1377	48	4	231	4	VN1R2	19	53761857	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	93160	53761857	5367126	4458	20914										
ZNF845	91664	hgsc.bcm.edu	37	chr19	53856776	53856776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaagtgtaatgaatgtggcAaggtttttaatcgaaaagca	10	4	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53856776A>G	ENST00000595091.1	+	5	3067	c.2848A>G	c.(2848-2850)Aag>Gag	p.K950E	ZNF845_ENST00000458035.1_Missense_Mutation_p.K950E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGAATGTGGCAAGGTTTTTAA	0.343																																					p.K950E		Atlas-SNP	.											.	ZNF845	101	.	0			c.A2848G						PASS	.						26	24	25					19																	53856776		692	1589	2281	SO:0001583	missense	91664	exon4			TGTGGCAAGGTTT	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2848A>G	19.37:g.53856776A>G	ENSP00000470005:p.Lys950Glu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	156	7	0.0448718	NM_138374		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999115	0.35226	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.27104	1.69	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27933	0.0688	M	0.71036	2.16	0.21802	N	0.999532	B	0.02656	0.0	B	0.06405	0.002	T	0.25984	-1.0116	9	0.62326	D	0.03	.	8.7997	0.34901	1.0:0.0:0.0:0.0	.	950	Q96IR2	ZN845_HUMAN	E	950;866	ENSP00000388311:K950E	ENSP00000412086:K866E	K	+	1	0	ZNF845	58548588	0.001000	0.12720	0.001000	0.08648	0.060000	0.15804	1.472000	0.35376	0.918000	0.36919	0.338000	0.21704	AAG	.	.	none		0.343	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		G	53856776	A	G	53856776	3	3	23	1	0	0	0	0	1	0	0	0	18188	131	5	2	2858	2	ZNF845	19	53856776	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	94919	53856776	5272207	4459	20915										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53990002	53990002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggagaattataggaacctGgtctccctgggtgaggataa	13	7	1	2	rs12974996	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53990002G>A	ENST00000396403.4	+	3	260	c.132G>A	c.(130-132)ctG>ctA	p.L44L	ZNF813_ENST00000396421.4_Silent_p.L44L	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	44	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATAGGAACCTGGTCTCCCTGG	0.483																																					p.L44L		Atlas-SNP	.											.	ZNF813	81	.	0			c.G132A						PASS	.						60	66	64					19																	53990002		2193	4255	6448	SO:0001819	synonymous_variant	126017	exon3			GAACCTGGTCTCC	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.132G>A	19.37:g.53990002G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	119	30	0.252101	NM_001004301		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																			G|0.500;A|0.500	0.500	strong		0.483	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53990002	G	A	53990002	2	1	23	1	0	0	0	0	0	0	0	1	18172	1335	47	2		2	ZNF813	19	53990002	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133226	53990002	5138981	4460	20916										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53994083	53994083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaataatttccggaattcTtcgttactcacacaaaaaca	6	9	2	0	rs150664026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53994083T>C	ENST00000396403.4	+	4	725	c.597T>C	c.(595-597)tcT>tcC	p.S199S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCCGGAATTCTTCGTTACTCA	0.368													.|||	12	0.00239617	0.0083	0.0014	5008	,	,		20858	0.0		0.0	False		,,,				2504	0.0				p.S199S		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,+1,1	ZNF813	81	1	0			c.T597C						scavenged	.	T		31,4353		0,31,2161	79	87	84		597	0.5	0	19	dbSNP_134	84	2,8584		0,2,4291	no	coding-synonymous	ZNF813	NM_001004301.3		0,33,6452	CC,CT,TT		0.0233,0.7071,0.2544		199/618	53994083	33,12937	2192	4293	6485	SO:0001819	synonymous_variant	126017	exon4			GAATTCTTCGTTA	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.597T>C	19.37:g.53994083T>C		Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	260	5	0.0192308	NM_001004301		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																			T|0.999;C|0.001	0.001	strong		0.368	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		C	53994083	T	C	53994083	2	2	23	1	0	0	0	0	0	0	0	1	18172	1596	56	3		3	ZNF813	19	53994083	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4081	53994083	5134900	4461	20917										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53995004	53995004	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtggcaagggttttaatcgGaaaacacaccttgcatgtca	10	8	1	0	rs2708845	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:53995004G>A	ENST00000396403.4	+	4	1646	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTTTTAATCGGAAAACACACC	0.403													.|||	3921	0.782947	0.9304	0.8084	5008	,	,		24042	0.6498		0.7485	False		,,,				2504	0.7382				p.R506R		Atlas-SNP	.											ZNF813_ENST00000396403,colon,carcinoma,+1,1	ZNF813	81	1	0			c.G1518A						scavenged	.	G		3949,449		1780,389,30	49	53	52		1518	-2.6	0	19	dbSNP_100	52	6290,2308		2323,1644,332	no	coding-synonymous	ZNF813	NM_001004301.3		4103,2033,362	AA,AG,GG		26.8435,10.2092,21.2142		506/618	53995004	10239,2757	2199	4299	6498	SO:0001819	synonymous_variant	126017	exon4			TAATCGGAAAACA	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1518G>A	19.37:g.53995004G>A		Somatic	202	3	0.0148515		WXS	Illumina HiSeq	Phase_I	170	73	0.429412	NM_001004301		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																			G|0.248;A|0.752	0.752	strong		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53995004	G	A	53995004	2	1	23	1	0	0	0	0	0	0	0	1	18172	1161	41	2		2	ZNF813	19	53995004	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	921	53995004	5133979	4462	20918										
NLRP12	91662	hgsc.bcm.edu	37	chr19	54327313	54327313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaggggatcttgccttctCccagctctgtcgcggtcccc	10	18	3	0	rs34436714	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54327313C>A	ENST00000324134.6	-	1	284	c.116G>T	c.(115-117)gGa>gTa	p.G39V	NLRP12_ENST00000345770.5_Missense_Mutation_p.G39V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G39V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G39V|NLRP12_ENST00000391772.1_Missense_Mutation_p.G39V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G39V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G39V|NLRP12_ENST00000354278.3_Missense_Mutation_p.G39V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	39	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		G -> V (in dbSNP:rs34436714).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGCCTTCTCCCAGCTCTGT	0.607													C|||	1280	0.255591	0.3858	0.2291	5008	,	,		16894	0.1776		0.2008	False		,,,				2504	0.2352				p.K39M		Atlas-SNP	.											.	NLRP12	236	.	0			c.A116T						PASS	.	C	VAL/GLY	1619,2787	499.3+/-364.4	299,1021,883	62	58	60		116	4.5	0.1	19	dbSNP_126	60	1851,6749	329.8+/-318.9	195,1461,2644	yes	missense	NLRP12	NM_144687.2	109	494,2482,3527	AA,AC,CC		21.5233,36.7453,26.68	probably-damaging	39/1062	54327313	3470,9536	2203	4300	6503	SO:0001583	missense	91662	exon1			CCTTCTCCCAGCT	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.116G>T	19.37:g.54327313C>A	ENSP00000319377:p.Gly39Val	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	134	50	0.373134	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	536	0.2454212454212454	213	0.4329268292682927	87	0.24033149171270718	83	0.1451048951048951	153	0.20184696569920843	C	13.08	2.130976	0.37630	0.367453	0.215233	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	4.48	4.48	0.54585	Pyrin (2);DEATH-like (2);	0.183793	0.25991	N	0.027001	T	0.00012	0.0000	L	0.60845	1.875	0.09310	P	0.9999999899703	B;B;B;B	0.25772	0.134;0.028;0.111;0.051	B;B;B;B	0.25614	0.052;0.021;0.062;0.03	T	0.38672	-0.9650	9	0.36615	T	0.2	.	13.0212	0.58789	0.0:1.0:0.0:0.0	rs34436714;rs58032372;rs34436714	39;39;39;39	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	39	ENSP00000319377:G39V;ENSP00000438030:G39V;ENSP00000340473:G39V;ENSP00000346231:G39V;ENSP00000375655:G39V;ENSP00000375653:G39V;ENSP00000375652:G39V	ENSP00000319377:G39V	G	-	2	0	NLRP12	59019125	0.013000	0.17824	0.079000	0.20413	0.188000	0.23474	1.465000	0.35299	2.224000	0.72417	0.305000	0.20034	GGA	C|0.741;A|0.259	0.259	strong		0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54327313	C	A	54327313	3	1	23	1	0	0	0	0	1	0	0	0	10474	855	30	4	3205	4	NLRP12	19	54327313	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	332309	54327313	4801670	4463	20919										
TSEN34	79042	hgsc.bcm.edu	37	chr19	54696027	54696027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccttgcccagatctgctcTccttgtccagctggccactg	8	18	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54696027T>C	ENST00000396383.1	+	4	859	c.548T>C	c.(547-549)cTc>cCc	p.L183P	MBOAT7_ENST00000474910.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.L183P|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.L183P|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000429671.2_Missense_Mutation_p.L183P|MBOAT7_ENST00000431666.2_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	183					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGATCTGCTCTCCTTGTCCAG	0.637																																					p.L183P	Esophageal Squamous(37;841 964 4869 42824)	Atlas-SNP	.											TSEN34,NS,carcinoma,-1,1	TSEN34	17	1	0			c.T548C						scavenged	.						69	71	70					19																	54696027		1878	4092	5970	SO:0001583	missense	79042	exon4			CTGCTCTCCTTGT	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.548T>C	19.37:g.54696027T>C	ENSP00000379667:p.Leu183Pro	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	236	4	0.0169492	NM_024075	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402493	0.83230	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.66995	-0.24;-0.16;-0.16;-0.15;-0.16;-0.16	4.56	4.56	0.56223	.	0.156002	0.51477	D	0.000082	T	0.74550	0.3731	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.999;0.997	D;P	0.66196	0.942;0.866	T	0.76979	-0.2758	10	0.72032	D	0.01	.	11.7599	0.51896	0.0:0.0:0.0:1.0	.	183;183	E7EQB3;Q9BSV6	.;SEN34_HUMAN	P	183;186;183;183;183;183	ENSP00000400743:L183P;ENSP00000408689:L186P;ENSP00000305524:L183P;ENSP00000397402:L183P;ENSP00000379667:L183P;ENSP00000379671:L183P	ENSP00000305524:L183P	L	+	2	0	TSEN34	59387839	1.000000	0.71417	0.721000	0.30653	0.973000	0.67179	5.870000	0.69620	1.842000	0.53543	0.459000	0.35465	CTC	.	.	none		0.637	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		C	54696027	T	C	54696027	3	2	23	1	0	0	0	0	1	0	0	0	16610	1551	54	3	558	3	TSEN34	19	54696027	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	368714	54696027	4432956	4464	20920										
LILRA6	79168	hgsc.bcm.edu	37	chr19	54743824	54743824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaggctggagcctccagagTgtcctggaaggagcacggga	18	9	0	1	rs199826565	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54743824T>G	ENST00000396365.2	-	7	1301	c.1262A>C	c.(1261-1263)cAc>cCc	p.H421P	LILRA6_ENST00000419410.2_Missense_Mutation_p.H421P|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Intron|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	421					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCTCCAGAGTGTCCTGGAAG	0.697													.|||	342	0.0682907	0.0008	0.0288	5008	,	,		19291	0.0169		0.0338	False		,,,				2504	0.2761				p.H421P		Atlas-SNP	.											LILRA6,NS,carcinoma,0,1	LILRA6	75	1	0			c.A1262C						scavenged	.	G	PRO/HIS	15,3271		0,15,1628	4	6	5		1262	1.2	0	19		5	185,6449		1,183,3133	no	missense	LILRA6	NM_024318.2	77	1,198,4761	GG,GT,TT		2.7887,0.4565,2.0161		421/482	54743824	200,9720	1643	3317	4960	SO:0001583	missense	79168	exon7			CCAGAGTGTCCTG	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1262A>C	19.37:g.54743824T>G	ENSP00000379651:p.His421Pro	Somatic	128	3	0.0234375		WXS	Illumina HiSeq	Phase_I	142	55	0.387324	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	t	0.027	-1.364083	0.01235	0.004565	0.027887	ENSG00000244482	ENST00000419410;ENST00000396365	T;T	0.00497	7.19;6.98	2.31	1.2	0.21068	.	18.772200	0.00166	N	0.000002	T	0.00073	0.0002	N	0.01668	-0.77	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41124	-0.9526	10	0.02654	T	1	.	2.942	0.05834	0.1669:0.0:0.5667:0.2663	.	421;421	Q6PI73;D3YTC4	LIRA6_HUMAN;.	P	421	ENSP00000411227:H421P;ENSP00000379651:H421P	ENSP00000379651:H421P	H	-	2	0	LILRA6	59435636	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.743000	0.04845	-0.068000	0.12953	-1.415000	0.01116	CAC	.	.	weak		0.697	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54743824	T	G	54743824	3	3	23	1	0	0	0	0	1	0	0	0	8789	1696	59	5	191	5	LILRA6	19	54743824	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	47797	54743824	4385159	4465	20921										
LILRA6	79168	hgsc.bcm.edu	37	chr19	54744195	54744195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actggggaaagacagcaggtGggggttggagctgtatgagc	19	5	0	2	rs1132604	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54744195G>A	ENST00000396365.2	-	6	1252	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	LILRA6_ENST00000419410.2_Missense_Mutation_p.H405Y|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.H405Y|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	405	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.H405N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACAGCAGGTGGGGGTTGGAG	0.612													.|||	491	0.0980431	0.2927	0.049	5008	,	,		26348	0.0		0.0229	False		,,,				2504	0.0481				p.H405Y		Atlas-SNP	.											LILRA6,colon,carcinoma,+1,1	LILRA6	75	1	1	Substitution - Missense(1)	lung(1)	c.C1213T						PASS	.						89	125	113					19																	54744195		2196	4300	6496	SO:0001583	missense	79168	exon6			GCAGGTGGGGGTT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1213C>T	19.37:g.54744195G>A	ENSP00000379651:p.His405Tyr	Somatic	319	1	0.0031348		WXS	Illumina HiSeq	Phase_I	360	117	0.325	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	102	0.046703296703296704	85	0.17276422764227642	10	0.027624309392265192	0	0.0	7	0.009234828496042216	G	0	-2.632637	0.00115	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00669	5.9;5.9;5.9	2.71	0.427	0.16489	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.167250	0.06702	N	0.771663	T	0.00012	0.0000	N	0.00413	-1.525	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38845	-0.9642	10	0.02654	T	1	.	5.898	0.18949	0.7984:0.0:0.2016:0.0	.	405;405;405	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	Y	405	ENSP00000411227:H405Y;ENSP00000379651:H405Y;ENSP00000245621:H405Y	ENSP00000245621:H405Y	H	-	1	0	LILRA6	59436007	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.810000	0.01729	-0.152000	0.11156	-2.766000	0.00121	CAC	G|0.954;A|0.046	0.046	strong		0.612	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744195	G	A	54744195	3	1	23	1	0	0	0	0	1	0	0	0	8789	1348	47	2	244	2	LILRA6	19	54744195	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	371	54744195	4384788	4466	20922										
LILRB5	10990	hgsc.bcm.edu	37	chr19	54756246	54756246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgagaatttcctcctggAtgtcagcaactgggctggcc	11	12	1	1	rs117421142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54756246A>G	ENST00000316219.5	-	11	1663	c.1556T>C	c.(1555-1557)aTc>aCc	p.I519T	LILRB5_ENST00000450632.1_Missense_Mutation_p.I511T|LILRB5_ENST00000449561.2_Missense_Mutation_p.I520T|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.I420T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	519					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCCTCCTGGATGTCAGCAAC	0.597													.|||	120	0.0239617	0.0	0.0072	5008	,	,		14772	0.004		0.0149	False		,,,				2504	0.0982				p.I520T		Atlas-SNP	.											.	LILRB5	176	.	0			c.T1559C						PASS	.	G	THR/ILE,THR/ILE,THR/ILE	20,4386	27.2+/-55.0	0,20,2183	93	90	91		1559,1259,1556	-4.2	0	19	dbSNP_132	91	214,8386	90.4+/-152.6	4,206,4090	yes	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	89,89,89	4,226,6273	GG,GA,AA		2.4884,0.4539,1.7992	benign,benign,benign	520/592,420/492,519/591	54756246	234,12772	2203	4300	6503	SO:0001583	missense	10990	exon11			TCCTGGATGTCAG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1556T>C	19.37:g.54756246A>G	ENSP00000320390:p.Ile519Thr	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	180	82	0.455556	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	19	0.0086996336996337	0	0.0	3	0.008287292817679558	3	0.005244755244755245	13	0.017150395778364115	a	0.006	-2.099395	0.00360	0.004539	0.024884	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00477	7.24;7.14;7.23;7.21	2.08	-4.16	0.03869	.	.	.	.	.	T	0.00073	0.0002	N	0.03154	-0.405	0.09310	N	1	B;B;B;B	0.26672	0.156;0.001;0.002;0.0	B;B;B;B	0.19666	0.026;0.004;0.002;0.002	T	0.29518	-1.0009	9	0.06365	T	0.9	.	5.7303	0.18036	0.2118:0.0:0.6172:0.171	.	511;420;520;519	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	T	519;511;520;420	ENSP00000320390:I519T;ENSP00000414225:I511T;ENSP00000406478:I520T;ENSP00000263430:I420T	ENSP00000320390:I519T	I	-	2	0	LILRB5	59448058	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.214000	0.01223	-2.013000	0.00949	-2.993000	0.00078	ATC	A|0.985;G|0.015	0.015	strong		0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			G	54756246	A	G	54756246	3	3	23	1	0	0	0	0	1	0	0	0	8794	333	12	2	228	2	LILRB5	19	54756246	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12051	54756246	4372737	4467	20923										
LILRA3	11026	hgsc.bcm.edu	37	chr19	54804167	54804167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcaggaccgtgaggatggGggtcatggcgtctcctccca	15	11	3	1	rs11574606	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54804167G>A	ENST00000251390.3	-	1	98	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	LILRA3_ENST00000391744.3_Missense_Mutation_p.P3S|LILRA3_ENST00000391745.1_Missense_Mutation_p.P20S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	3			P -> S (in dbSNP:rs11574606). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9278324, ECO:0000269|PubMed:9548455}.		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGGATGGGGGTCATGGCG	0.592													G|||	314	0.0626997	0.0129	0.111	5008	,	,		14210	0.003		0.1829	False		,,,				2504	0.0337				p.P3S		Atlas-SNP	.											.	LILRA3	65	.	0			c.C7T						PASS	.	G	SER/PRO,SER/PRO	124,4266		18,88,2089	129	98	109		7,7	-3.9	0	19	dbSNP_120	109	1433,6907		320,793,3057	yes	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	74,74	338,881,5146	AA,AG,GG		17.1823,2.8246,12.231	,	3/376,3/440	54804167	1557,11173	2195	4170	6365	SO:0001583	missense	11026	exon1			GGATGGGGGTCAT	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.7C>T	19.37:g.54804167G>A	ENSP00000251390:p.Pro3Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	203	115	0.566502	NM_001172654	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	172	0.07875457875457875	10	0.02032520325203252	38	0.10497237569060773	2	0.0034965034965034965	122	0.16094986807387862	G	12.13	1.845588	0.32606	0.028246	0.171823	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00745	5.75;5.79;5.77	1.96	-3.93	0.04143	.	1.147850	0.06558	N	0.746265	T	0.00012	0.0000	L	0.53617	1.68	0.80722	P	0.0	B;B;B	0.30542	0.106;0.284;0.027	B;B;B	0.32805	0.098;0.153;0.001	T	0.37197	-0.9716	9	0.45353	T	0.12	.	0.1575	0.00099	0.3149:0.1943:0.2667:0.2242	rs11574606;rs17852512	3;3;3	E7EU74;Q8N6C8;B5ME96	.;LIRA3_HUMAN;.	S	3;3;20	ENSP00000251390:P3S;ENSP00000375624:P3S;ENSP00000375625:P20S	ENSP00000251390:P3S	P	-	1	0	LILRA3	59495979	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.321000	0.08018	-0.876000	0.04017	0.485000	0.47835	CCC	G|0.907;A|0.093	0.093	strong		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54804167	G	A	54804167	3	1	23	1	0	0	0	0	1	0	0	0	8786	1232	43	2	1340	2	LILRA3	19	54804167	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	47921	54804167	4324816	4468	20924										
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848121	54848121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgccctcacctgagaccaCgagctccaggggctcactgg	12	16	2	1	rs141881690	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54848121C>T	ENST00000291759.4	-	6	1302	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	416					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGAGACCACGAGCTCCAGG	0.597													C|||	158	0.0315495	0.0613	0.0101	5008	,	,		18423	0.0		0.0109	False		,,,				2504	0.0603				p.V416M		Atlas-SNP	.											.	LILRA4	91	.	0			c.G1246A						PASS	.						80	67	71					19																	54848121		2203	4300	6503	SO:0001583	missense	23547	exon6			AGACCACGAGCTC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1246G>A	19.37:g.54848121C>T	ENSP00000291759:p.Val416Met	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	144	13	0.0902778	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504546	0.12822	.	.	ENSG00000239961	ENST00000291759	T	0.00848	5.62	2.4	-4.8	0.03190	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.277830	0.01713	N	0.027839	T	0.01489	0.0048	M	0.61703	1.905	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.42816	-0.9429	10	0.33141	T	0.24	.	7.5849	0.27987	0.0:0.1789:0.6361:0.185	.	416	P59901	LIRA4_HUMAN	M	416	ENSP00000291759:V416M	ENSP00000291759:V416M	V	-	1	0	LILRA4	59539933	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-4.042000	0.00307	-1.656000	0.01495	0.455000	0.32223	GTG	C|0.999;T|0.001	0.001	weak		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848121	C	T	54848121	3	4	23	1	0	0	0	0	1	0	0	0	8787	536	19	1	265	1	LILRA4	19	54848121	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	43954	54848121	4280862	4469	20925										
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848144	54848144	+	Missense_Mutation	SNP	T	T	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctccaggggctcactggggTgagacagcaggtaggggttg					rs74869671	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54848144T>A	ENST00000291759.4	-	6	1279	c.1223A>T	c.(1222-1224)cAc>cTc	p.H408L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	408	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCACTGGGGTGAGACAGCAG	0.592													T|||	74	0.0147764	0.0333	0.0014	5008	,	,		17775	0.0		0.001	False		,,,				2504	0.0286				p.H408L		Atlas-SNP	.											.	LILRA4	91	.	0			c.A1223T						PASS	.	T	LEU/HIS	1,4405		0,1,2202	111	91	98		1223	-1.7	0	19	dbSNP_131	98	1,8599		0,1,4299	no	missense	LILRA4	NM_012276.3	99	0,2,6501	AA,AT,TT		0.0116,0.0227,0.0154	benign	408/500	54848144	2,13004	2203	4300	6503	SO:0001583	missense	23547	exon6			CTGGGGTGAGACA	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1223A>T	19.37:g.54848144T>A	ENSP00000291759:p.His408Leu	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	179	18	0.100559	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	5.063	0.197370	0.09599	2.27E-4	1.16E-4	ENSG00000239961	ENST00000291759	T	0.00691	5.84	2.4	-1.74	0.08056	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.662820	0.00932	N	0.002721	T	0.00754	0.0025	L	0.35414	1.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49437	-0.8940	10	0.17832	T	0.49	.	3.0817	0.06265	0.4319:0.0:0.22:0.3481	.	408	P59901	LIRA4_HUMAN	L	408	ENSP00000291759:H408L	ENSP00000291759:H408L	H	-	2	0	LILRA4	59539956	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.031000	0.01427	-0.517000	0.06461	-0.714000	0.03626	CAC	T|0.995;A|0.005	0.005	strong		0.592	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		A	54848144	T	A	54848144	3	1	23	1	0	0	0	0	1	0	0	0	8787	1696	59	5	288	5	LILRA4	19	54848144	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23	54848144	4280839	4470	20926	417	2								
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848145	54848145	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctccaggggctcactggggtGagacagcaggtaggggttgg					rs75547479	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54848145G>A	ENST00000291759.4	-	6	1278	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	408	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCACTGGGGTGAGACAGCAGG	0.592													G|||	74	0.0147764	0.0333	0.0014	5008	,	,		17303	0.0		0.001	False		,,,				2504	0.0286				p.H408Y		Atlas-SNP	.											.	LILRA4	91	.	0			c.C1222T						PASS	.						112	91	98					19																	54848145		2203	4300	6503	SO:0001583	missense	23547	exon6			TGGGGTGAGACAG	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1222C>T	19.37:g.54848145G>A	ENSP00000291759:p.His408Tyr	Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	182	19	0.104396	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	6.455	0.452105	0.12283	.	.	ENSG00000239961	ENST00000291759	T	0.00724	5.78	2.4	0.177	0.15054	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.662820	0.00932	N	0.002721	T	0.01523	0.0049	M	0.81341	2.54	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.56056	-0.8042	10	0.20519	T	0.43	.	4.4089	0.11423	0.3496:0.0:0.6504:0.0	.	408	P59901	LIRA4_HUMAN	Y	408	ENSP00000291759:H408Y	ENSP00000291759:H408Y	H	-	1	0	LILRA4	59539957	0.000000	0.05858	0.008000	0.14137	0.035000	0.12851	-1.057000	0.03486	0.109000	0.17891	0.455000	0.32223	CAC	A|0.005;G|0.995	0.005	strong		0.592	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		A	54848145	G	A	54848145	3	1	23	1	0	0	0	0	1	0	0	0	8787	1290	45	2	289	2	LILRA4	19	54848145	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	54848145	4280838	4471	20927	417	2								
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848826	54848826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggggctgccggccagggCgctgggggaggccatcggcc	20	14	0	0	rs145556773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54848826C>T	ENST00000291759.4	-	5	853	c.797G>A	c.(796-798)cGc>cAc	p.R266H	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	266	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGGCCAGGGCGCTGGGGGAG	0.657													C|||	7	0.00139776	0.0	0.0029	5008	,	,		12832	0.0		0.005	False		,,,				2504	0.0				p.R266H		Atlas-SNP	.											.	LILRA4	91	.	0			c.G797A						PASS	.	C	HIS/ARG	1,4403		0,1,2201	22	24	23		797	-5	0	19	dbSNP_134	23	56,8542		0,56,4243	yes	missense	LILRA4	NM_012276.3	29	0,57,6444	TT,TC,CC		0.6513,0.0227,0.4384	benign	266/500	54848826	57,12945	2202	4299	6501	SO:0001583	missense	23547	exon5			CCAGGGCGCTGGG	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.797G>A	19.37:g.54848826C>T	ENSP00000291759:p.Arg266His	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	175	95	0.542857	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	.	0.012	-1.661083	0.00772	2.27E-4	0.006513	ENSG00000239961	ENST00000291759	T	0.12879	2.64	2.51	-5.02	0.02982	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.356960	0.01819	N	0.033919	T	0.07593	0.0191	L	0.46157	1.445	0.09310	N	1	B	0.12630	0.006	B	0.18561	0.022	T	0.26326	-1.0106	10	0.18710	T	0.47	.	3.0012	0.06015	0.1276:0.1549:0.1272:0.5903	.	266	P59901	LIRA4_HUMAN	H	266	ENSP00000291759:R266H	ENSP00000291759:R266H	R	-	2	0	LILRA4	59540638	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.350000	0.01092	-2.651000	0.00424	-0.391000	0.06502	CGC	C|0.997;T|0.003	0.003	strong		0.657	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848826	C	T	54848826	3	4	23	1	0	0	0	0	1	0	0	0	8787	768	27	1	718	1	LILRA4	19	54848826	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	681	54848826	4280157	4472	20928										
LILRA4	23547	hgsc.bcm.edu	37	chr19	54849481	54849481	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaccacagggcttggcagTgcggacagggtgggtctgct	17	10	2	0	rs7256494	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54849481T>G	ENST00000291759.4	-	4	437	c.381A>C	c.(379-381)gcA>gcC	p.A127A	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	127	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCTTGGCAGTGCGGACAGGG	0.572													G|||	1951	0.389577	0.4554	0.4251	5008	,	,		18707	0.2589		0.3638	False		,,,				2504	0.4366				p.A127A		Atlas-SNP	.											LILRA4,colon,carcinoma,0,4	LILRA4	91	4	0			c.A381C						scavenged	.	G		1958,2448		426,1106,671	49	52	51		381	0.3	0.1	19	dbSNP_116	51	3240,5360		604,2032,1664	no	coding-synonymous	LILRA4	NM_012276.3		1030,3138,2335	GG,GT,TT		37.6744,44.4394,39.9662		127/500	54849481	5198,7808	2203	4300	6503	SO:0001819	synonymous_variant	23547	exon4			TGGCAGTGCGGAC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.381A>C	19.37:g.54849481T>G		Somatic	154	1	0.00649351		WXS	Illumina HiSeq	Phase_I	146	54	0.369863	NM_012276	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																			T|0.611;G|0.389	0.389	strong		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		G	54849481	T	G	54849481	2	3	23	1	0	0	0	0	0	0	0	1	8787	1683	59	5		5	LILRA4	19	54849481	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	655	54849481	4279502	4473	20929										
LENG9	94059	hgsc.bcm.edu	37	chr19	54973280	54973280	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgggggtgtcactccaggCggatctcagccaggggctgg	17	11	3	0	rs10423424	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:54973280C>G	ENST00000333834.4	-	1	1614	c.1496G>C	c.(1495-1497)cGc>cCc	p.R499P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	499			R -> P (in dbSNP:rs10423424).				catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TCACTCCAGGCGGATCTCAGC	0.602													G|||	2900	0.579073	0.77	0.464	5008	,	,		16629	0.3651		0.5626	False		,,,				2504	0.6401				p.R499P		Atlas-SNP	.											.	LENG9	46	.	0			c.G1496C						PASS	.	G	PRO/ARG	3282,1124		1235,812,156	59	68	65		1496	3.9	0	19	dbSNP_119	65	4680,3914		1273,2134,890	yes	missense	LENG9	NM_198988.1	103	2508,2946,1046	GG,GC,CC		45.5434,25.5107,38.7538	benign	499/502	54973280	7962,5038	2203	4297	6500	SO:0001583	missense	94059	exon1			TCCAGGCGGATCT	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1496G>C	19.37:g.54973280C>G	ENSP00000331647:p.Arg499Pro	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	55	54	0.981818	NM_198988	B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	1226	0.5613553113553114	408	0.8292682926829268	193	0.5331491712707183	201	0.3513986013986014	424	0.5593667546174143	G	0.689	-0.795374	0.02862	0.744893	0.544566	ENSG00000182909	ENST00000333834	T	0.37584	1.19	4.98	3.9	0.45041	RNA ligase/cyclic nucleotide phosphodiesterase (1);	1.097220	0.07030	N	0.828234	T	0.00012	0.0000	N	0.00237	-1.79	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39396	-0.9616	9	0.02654	T	1	-10.4024	8.3798	0.32463	0.0:0.1707:0.6521:0.1772	rs10423424;rs57017426;rs10423424	499	Q96B70	LENG9_HUMAN	P	499	ENSP00000331647:R499P	ENSP00000331647:R499P	R	-	2	0	LENG9	59665092	0.003000	0.15002	0.008000	0.14137	0.023000	0.10783	1.083000	0.30815	0.581000	0.29539	-0.120000	0.15030	CGC	C|0.414;G|0.586	0.586	strong		0.602	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		G	54973280	C	G	54973280	3	3	23	1	0	0	0	0	1	0	0	0	8725	768	27	4	13	4	LENG9	19	54973280	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	123799	54973280	4155703	4474	20930										
LILRA2	11027	hgsc.bcm.edu	37	chr19	55086873	55086873	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctccagcgccctggttGgcagccccaggctgggctct	12	17	1	0	rs575246367	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55086873G>A	ENST00000251377.3	+	6	939	c.806G>A	c.(805-807)tGg>tAg	p.W269*	LILRA2_ENST00000251376.3_Nonsense_Mutation_p.W269*|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.W269*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.W257*			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	269	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.W269L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGCCCTGGTTGGCAGCCCCAG	0.622													g|||	24	0.00479233	0.0	0.0	5008	,	,		15852	0.0		0.001	False		,,,				2504	0.0235				p.W269X		Atlas-SNP	.											LILRA2,NS,carcinoma,0,1	LILRA2	99	1	1	Substitution - Missense(1)	lung(1)	c.G806A						scavenged	.						75	74	74					19																	55086873		2203	4300	6503	SO:0001587	stop_gained	11027	exon5			CTGGTTGGCAGCC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.806G>A	19.37:g.55086873G>A	ENSP00000251377:p.Trp269*	Somatic	296	5	0.0168919		WXS	Illumina HiSeq	Phase_I	248	7	0.0282258	NM_001130917	O75020	Nonsense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154944	0.38021	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.26	-4.53	0.03462	.	3.839380	0.00628	N	0.000462	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	0.3518	0.00350	0.3906:0.152:0.2111:0.2464	.	.	.	.	X	269;269;269;269;257	.	ENSP00000251376:W269X	W	+	2	0	LILRA2	59778685	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.564000	0.00918	-1.647000	0.01511	-0.527000	0.04329	TGG	.	.	none		0.622	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			A	55086873	G	A	55086873	4	1	23	1	0	0	0	0	0	1	0	0	8785	1357	47	2	824	2	LILRA2	19	55086873	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	113593	55086873	4042110	4475	20931										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55143452	55143452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaactcaggagggaatgtaaTcctccagtgtgactcacagg	12	9	2	1	rs1061680	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55143452T>C	ENST00000396331.1	+	6	782	c.425T>C	c.(424-426)aTc>aCc	p.I142T	AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000324602.7_Missense_Mutation_p.I142T|LILRB1_ENST00000396317.1_Missense_Mutation_p.I142T|LILRB1_ENST00000427581.2_Missense_Mutation_p.I178T|LILRB1_ENST00000448689.1_Missense_Mutation_p.I142T|LILRB1_ENST00000396332.4_Missense_Mutation_p.I142T|LILRB1_ENST00000396315.1_Missense_Mutation_p.I142T|LILRB1_ENST00000434867.2_Missense_Mutation_p.I142T|LILRB1_ENST00000418536.2_Missense_Mutation_p.I142T|LILRB1_ENST00000396327.3_Missense_Mutation_p.I142T|LILRB1_ENST00000396321.2_Missense_Mutation_p.I142T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	142	Ig-like C2-type 2.		I -> T (in dbSNP:rs1061680). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20600445, ECO:0000269|PubMed:9285411}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGAATGTAATCCTCCAGTGT	0.552										HNSCC(37;0.09)			N|||	2190	0.4373	0.6059	0.4553	5008	,	,		18519	0.5942		0.2465	False		,,,				2504	0.2311				p.I142T		Atlas-SNP	.											LILRB1,NS,carcinoma,-1,1	LILRB1	140	1	0			c.T425C						scavenged	.	C	THR/ILE,THR/ILE,THR/ILE,THR/ILE	2467,1939	549.6+/-377.8	694,1079,430	104	101	102		425,425,425,425	-0.6	0	19	dbSNP_86	102	2380,6220	700.8+/-405.2	323,1734,2243	yes	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	89,89,89,89	1017,2813,2673	CC,CT,TT		27.6744,44.0082,37.2674	benign,benign,benign,benign	142/653,142/652,142/652,142/651	55143452	4847,8159	2203	4300	6503	SO:0001583	missense	10859	exon5			ATGTAATCCTCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.425T>C	19.37:g.55143452T>C	ENSP00000379622:p.Ile142Thr	Somatic	140	1	0.00714286		WXS	Illumina HiSeq	Phase_I	135	72	0.533333	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	998	0.45695970695970695	313	0.6361788617886179	153	0.42265193370165743	339	0.5926573426573427	193	0.2546174142480211	C	0.004	-2.258264	0.00265	0.559918	0.276744	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48	1.9	-0.625	0.11548	Immunoglobulin-like fold (1);	0.000000	0.56097	N	0.000039	T	0.00012	0.0000	N	0.00082	-2.215	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.13124	-1.0521	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.4992:0.0:0.5008	rs1061680;rs3202770;rs17845472;rs17858351;rs58070294;rs1061680	142;142;142;142;142	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	142;142;142;142;142;142;142;142;178;142;142	ENSP00000379614:I142T;ENSP00000391514:I142T;ENSP00000409968:I142T;ENSP00000379622:I142T;ENSP00000379618:I142T;ENSP00000315997:I142T;ENSP00000405243:I142T;ENSP00000379623:I142T;ENSP00000395004:I178T;ENSP00000379610:I142T;ENSP00000379608:I142T	ENSP00000315997:I142T	I	+	2	0	LILRB1	59835264	0.330000	0.24705	0.001000	0.08648	0.002000	0.02628	0.437000	0.21543	-0.405000	0.07599	-1.160000	0.01791	ATC	T|0.567;C|0.433	0.433	strong		0.552	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55143452	T	C	55143452	3	2	23	1	0	0	0	0	1	0	0	0	8790	1435	50	2	439	2	LILRB1	19	55143452	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	56579	55143452	3985531	4476	20932										
NLRP7	199713	hgsc.bcm.edu	37	chr19	55450696	55450696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagcttctgtacgtccccGatgtcccaggcgtggccgtc	12	15	1	0	rs775880	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55450696G>A	ENST00000590030.1	-	3	1531	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	NLRP7_ENST00000592784.1_Silent_p.I497I|NLRP7_ENST00000446217.1_Silent_p.I525I|NLRP7_ENST00000340844.2_Silent_p.I497I|NLRP7_ENST00000588756.1_Silent_p.I497I|NLRP7_ENST00000328092.5_Silent_p.I497I|NLRP7_ENST00000448121.2_Silent_p.I497I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	497							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTACGTCCCCGATGTCCCAGG	0.562													.|||	447	0.0892572	0.2368	0.0562	5008	,	,		18553	0.003		0.0706	False		,,,				2504	0.0215				p.I497I		Atlas-SNP	.											.	NLRP7	411	.	0			c.C1491T						PASS	.	A	,,	922,3484	736.7+/-410.8	100,722,1381	72	69	70		1491,1491,1491	-1.5	0	19	dbSNP_86	70	314,8286	801.4+/-407.4	3,308,3989	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	103,1030,5370	AA,AG,GG		3.6512,20.926,9.5033	,,	497/1038,497/1010,497/981	55450696	1236,11770	2203	4300	6503	SO:0001819	synonymous_variant	199713	exon4			GTCCCCGATGTCC	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1491C>T	19.37:g.55450696G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	172	23	0.133721	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																			G|0.908;A|0.092	0.092	strong		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450696	G	A	55450696	2	1	23	1	0	0	0	0	0	0	0	1	10482	1048	37	1		1	NLRP7	19	55450696	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	307244	55450696	3678287	4477	20933										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55485899	55485899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatcctttaataaaaggaaGcctctatcattaggtaagtt	6	6	2	0	rs2217659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55485899G>A	ENST00000543010.1	+	3	455	c.312G>A	c.(310-312)aaG>aaA	p.K104K	NLRP2_ENST00000391721.4_Silent_p.K104K|NLRP2_ENST00000339757.7_Silent_p.K104K|NLRP2_ENST00000427260.2_Silent_p.K81K|NLRP2_ENST00000263437.6_Silent_p.K104K|NLRP2_ENST00000537859.1_Silent_p.K104K|NLRP2_ENST00000538819.1_Silent_p.K104K|NLRP2_ENST00000448584.2_Silent_p.K104K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	104					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATAAAAGGAAGCCTCTATCAT	0.358													.|||	887	0.177117	0.093	0.1542	5008	,	,		17526	0.3512		0.1779	False		,,,				2504	0.1268				p.K104K		Atlas-SNP	.											.	NLRP2	161	.	0			c.G312A						PASS	.	G	,,,	502,3902	229.8+/-244.2	31,440,1731	99	102	101		312,312,243,312	-2.6	0	19	dbSNP_96	101	1525,7075	285.7+/-297.3	145,1235,2920	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	176,1675,4651	AA,AG,GG		17.7326,11.3987,15.5875	,,,	104/1063,104/1041,81/1040,104/1063	55485899	2027,10977	2202	4300	6502	SO:0001819	synonymous_variant	55655	exon3			AAGGAAGCCTCTA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.312G>A	19.37:g.55485899G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	28	0.388889	NM_001174082	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			G|0.829;A|0.171	0.171	strong		0.358	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55485899	G	A	55485899	2	1	23	1	0	0	0	0	0	0	0	1	10477	962	34	2		2	NLRP2	19	55485899	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	35203	55485899	3643084	4478	20934										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55494320	55494320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggagaagggggaggacccGgtccccacctgcctcacccg	14	15	1	1	rs147207921	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55494320G>A	ENST00000543010.1	+	6	1397	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P	NLRP2_ENST00000391721.4_Silent_p.P394P|NLRP2_ENST00000339757.7_Silent_p.P396P|NLRP2_ENST00000427260.2_Silent_p.P395P|NLRP2_ENST00000263437.6_Silent_p.P415P|NLRP2_ENST00000537859.1_Silent_p.P396P|NLRP2_ENST00000538819.1_Silent_p.P394P|NLRP2_ENST00000448584.2_Silent_p.P418P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	418	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGAGGACCCGGTCCCCACCT	0.706													G|||	54	0.0107827	0.0076	0.0187	5008	,	,		14301	0.001		0.0278	False		,,,				2504	0.002				p.P418P		Atlas-SNP	.											.	NLRP2	161	.	0			c.G1254A						PASS	.	G	,,,	35,4343		0,35,2154	16	16	16		1254,1188,1185,1254	-3.9	0	19	dbSNP_134	16	234,8306		0,234,4036	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,269,6190	AA,AG,GG		2.74,0.7995,2.0824	,,,	418/1063,396/1041,395/1040,418/1063	55494320	269,12649	2189	4270	6459	SO:0001819	synonymous_variant	55655	exon6			GGACCCGGTCCCC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1254G>A	19.37:g.55494320G>A		Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	141	73	0.51773	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			G|0.987;A|0.013	0.013	weak		0.706	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55494320	G	A	55494320	2	1	23	1	0	0	0	0	0	0	0	1	10477	1103	39	1		1	NLRP2	19	55494320	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	8421	55494320	3634663	4479	20935										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55494638	55494638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaaggaggaggaagaggaTagggacggccacacctggga	19	6	0	2	rs61735084	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55494638T>C	ENST00000543010.1	+	6	1715	c.1572T>C	c.(1570-1572)gaT>gaC	p.D524D	NLRP2_ENST00000391721.4_Silent_p.D500D|NLRP2_ENST00000339757.7_Silent_p.D502D|NLRP2_ENST00000427260.2_Silent_p.D501D|NLRP2_ENST00000263437.6_Silent_p.D521D|NLRP2_ENST00000537859.1_Silent_p.D502D|NLRP2_ENST00000538819.1_Silent_p.D500D|NLRP2_ENST00000448584.2_Silent_p.D524D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	524	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAAGAGGATAGGGACGGCC	0.552													C|||	75	0.014976	0.0234	0.0187	5008	,	,		18328	0.001		0.0278	False		,,,				2504	0.002				p.D524D		Atlas-SNP	.											.	NLRP2	161	.	0			c.T1572C						PASS	.						80	74	76					19																	55494638		2203	4300	6503	SO:0001819	synonymous_variant	55655	exon6			AGAGGATAGGGAC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1572T>C	19.37:g.55494638T>C		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	76	21	0.276316	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			T|0.987;C|0.013	0.013	strong		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		C	55494638	T	C	55494638	2	2	23	1	0	0	0	0	0	0	0	1	10477	1403	49	2		2	NLRP2	19	55494638	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	318	55494638	3634345	4480	20936										
NLRP2	55655	hgsc.bcm.edu	37	chr19	55496494	55496494	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaataaggatctgatgggtCtagcaatcaatgatagcttt	9	6	3	2	rs61733928	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55496494C>T	ENST00000543010.1	+	7	2253	c.2110C>T	c.(2110-2112)Cta>Tta	p.L704L	NLRP2_ENST00000391721.4_Silent_p.L680L|NLRP2_ENST00000339757.7_Silent_p.L682L|NLRP2_ENST00000427260.2_Silent_p.L681L|NLRP2_ENST00000263437.6_Silent_p.L701L|NLRP2_ENST00000537859.1_Silent_p.L682L|NLRP2_ENST00000538819.1_Silent_p.L680L|NLRP2_ENST00000448584.2_Silent_p.L704L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	704					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTGATGGGTCTAGCAATCAA	0.448													c|||	61	0.0121805	0.0113	0.0216	5008	,	,		19099	0.001		0.0278	False		,,,				2504	0.002				p.L704L		Atlas-SNP	.											.	NLRP2	161	.	0			c.C2110T						PASS	.	T	,,,	36,4370	40.8+/-73.8	0,36,2167	198	170	179		2110,2044,2041,2110	1.4	0	19	dbSNP_129	179	255,8345	100.6+/-161.9	2,251,4047	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	2,287,6214	TT,TC,CC		2.9651,0.8171,2.2374	,,,	704/1063,682/1041,681/1040,704/1063	55496494	291,12715	2203	4300	6503	SO:0001819	synonymous_variant	55655	exon7			ATGGGTCTAGCAA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2110C>T	19.37:g.55496494C>T		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	154	73	0.474026	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			C|0.980;T|0.020	0.020	strong		0.448	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55496494	C	T	55496494	2	4	23	1	0	0	0	0	0	0	0	1	10477	912	32	2		2	NLRP2	19	55496494	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1856	55496494	3632489	4481	20937										
GP6	51206	hgsc.bcm.edu	37	chr19	55525818	55525818	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgaaaggagatttgttagacCgcagtgggagatggagtgag	17	4	0	4	rs41275822	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55525818C>T	ENST00000417454.1	-	0	1518				GP6_ENST00000310373.3_Missense_Mutation_p.G499S|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTTGTTAGACCGCAGTGGGAG	0.507													C|||	64	0.0127796	0.0023	0.0288	5008	,	,		21622	0.0		0.0378	False		,,,				2504	0.0031				p.G499S		Atlas-SNP	.											GP6,caecum,carcinoma,+2,1	GP6	55	1	0			c.G1495A						PASS	.	C	,SER/GLY	19,3893		0,19,1937	106	105	105		,1495	0.5	0	19	dbSNP_127	105	287,8009		5,277,3866	yes	utr-3,missense	GP6	NM_016363.4,NM_001083899.1	,56	5,296,5803	TT,TC,CC		3.4595,0.4857,2.5066	,benign	,499/621	55525818	306,11902	1956	4148	6104	SO:0001624	3_prime_UTR_variant	51206	exon8			TTAGACCGCAGTG	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*471G>A	19.37:g.55525818C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	96	44	0.458333	NM_001083899	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	40	0.018315018315018316	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	26	0.03430079155672823	c	2.827	-0.243411	0.05906	0.004857	0.034595	ENSG00000088053	ENST00000310373	T	0.00581	6.42	1.56	0.493	0.16878	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48007	-0.9072	8	0.87932	D	0	.	3.5713	0.07918	0.0:0.2251:0.0:0.7749	rs41275822	499	Q9HCN6-3	.	S	499	ENSP00000308782:G499S	ENSP00000308782:G499S	G	-	1	0	GP6	60217630	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.243000	0.08915	0.059000	0.16252	-0.415000	0.06103	GGT	C|0.977;T|0.023	0.023	strong		0.507	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			T	55525818	C	T	55525818	1	4	23	0	1	0	0	0	0	0	0	0	6584	652	23	1		1	GP6	19	55525818	3'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29324	55525818	3603165	4482	20938										
RDH13	112724	hgsc.bcm.edu	37	chr19	55559715	55559715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttgcagccgccggctcaGctccttggtgaagaggacga	13	13	1	2	rs2305543	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55559715G>A	ENST00000415061.3	-	5	783	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000396247.3_Silent_p.L143L|CTC-550B14.6_ENST00000585492.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	214					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CGCCGGCTCAGCTCCTTGGTG	0.582													.|||	1574	0.314297	0.2799	0.2219	5008	,	,		19412	0.4593		0.2485	False		,,,				2504	0.3446				p.L214L		Atlas-SNP	.											.	RDH13	43	.	0			c.C640T						PASS	.	G	,	1016,2940		127,762,1089	49	51	50		640,427	3.2	1	19	dbSNP_100	50	2065,6275		234,1597,2339	no	coding-synonymous,coding-synonymous	RDH13	NM_001145971.1,NM_138412.3	,	361,2359,3428	AA,AG,GG		24.7602,25.6825,25.0569	,	214/332,143/261	55559715	3081,9215	1978	4170	6148	SO:0001819	synonymous_variant	112724	exon5			GGCTCAGCTCCTT		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.640C>T	19.37:g.55559715G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	119	57	0.478992	NM_001145971	Q6UX79|Q96G88	Silent	SNP	ENST00000415061.3	37	CCDS54320.1																																																																																			G|0.701;A|0.299	0.299	strong		0.582	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		A	55559715	G	A	55559715	2	1	23	1	0	0	0	0	0	0	0	1	13192	962	34	2		2	RDH13	19	55559715	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33897	55559715	3569268	4483	20939										
EPS8L1	54869	hgsc.bcm.edu	37	chr19	55587822	55587822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactcagcaccatgagcaccGccacagggtaagcgcccccg	10	18	1	1	rs12609976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55587822G>A	ENST00000201647.6	+	2	66	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	EPS8L1_ENST00000540810.1_5'UTR|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	4			A -> T (in dbSNP:rs12609976). {ECO:0000269|PubMed:12620401, ECO:0000269|PubMed:15498874}.		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)		CATGAGCACCGCCACAGGGTA	0.672													N|||	489	0.0976438	0.0408	0.1455	5008	,	,		12199	0.1002		0.162	False		,,,				2504	0.0716				p.A4T	Ovarian(149;255 1863 3636 27051 29647)	Atlas-SNP	.											EPS8L1,NS,carcinoma,0,1	EPS8L1	122	1	0			c.G10A						scavenged	.		THR/ALA	237,4167		12,213,1977	35	40	39		10	2.5	0.6	19	dbSNP_120	39	1436,7162		141,1154,3004	yes	missense	EPS8L1	NM_133180.2	58	153,1367,4981	AA,AG,GG		16.7016,5.3815,12.8673	benign	4/724	55587822	1673,11329	2202	4299	6501	SO:0001583	missense	54869	exon2			AGCACCGCCACAG	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.10G>A	19.37:g.55587822G>A	ENSP00000201647:p.Ala4Thr	Somatic	310	3	0.00967742		WXS	Illumina HiSeq	Phase_I	274	150	0.547445	NM_133180	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	267	0.12225274725274725	17	0.034552845528455285	56	0.15469613259668508	62	0.10839160839160839	132	0.1741424802110818	N	4.224	0.040468	0.08148	0.053815	0.167016	ENSG00000131037	ENST00000201647	T	0.04275	3.66	2.54	2.54	0.30619	.	1.601540	0.05427	N	0.545204	T	0.00012	0.0000	N	0.08118	0	0.35532	P	0.197631	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	9	0.02654	T	1	-1.0811	4.8871	0.13708	0.8496:0.0:0.1504:0.0	rs12609976;rs57914190;rs12609976	4	Q8TE68	ES8L1_HUMAN	T	4	ENSP00000201647:A4T	ENSP00000201647:A4T	A	+	1	0	EPS8L1	60279634	0.000000	0.05858	0.570000	0.28473	0.481000	0.33189	-0.017000	0.12590	0.409000	0.25649	-1.729000	0.00701	GCC	G|0.878;A|0.122	0.122	strong		0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		A	55587822	G	A	55587822	3	1	23	1	0	0	0	0	1	0	0	0	5195	1087	38	1	12	1	EPS8L1	19	55587822	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	28107	55587822	3541161	4484	20940										
TMEM86B	255043	hgsc.bcm.edu	37	chr19	55739689	55739689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacccagccaggcagaggacGggcaggcacttgaccagggc	15	13	0	2	rs10413828	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55739689G>A	ENST00000327042.4	-	2	690	c.168C>T	c.(166-168)ccC>ccT	p.P56P	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	56					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GGCAGAGGACGGGCAGGCACT	0.652													G|||	2167	0.432708	0.3222	0.4582	5008	,	,		17485	0.5992		0.4175	False		,,,				2504	0.408				p.P56P		Atlas-SNP	.											.	TMEM86B	12	.	0			c.C168T						PASS	.	G		1323,3079		187,949,1065	56	49	51		168	-10	0	19	dbSNP_119	51	3319,5279		632,2055,1612	no	coding-synonymous	TMEM86B	NM_173804.4		819,3004,2677	AA,AG,GG		38.602,30.0545,35.7077		56/227	55739689	4642,8358	2201	4299	6500	SO:0001819	synonymous_variant	255043	exon2			GAGGACGGGCAGG	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.168C>T	19.37:g.55739689G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	74	45	0.608108	NM_173804		Silent	SNP	ENST00000327042.4	37	CCDS12920.1																																																																																			G|0.620;A|0.380	0.380	strong		0.652	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		A	55739689	G	A	55739689	2	1	23	1	0	0	0	0	0	0	0	1	16206	1103	39	1		1	TMEM86B	19	55739689	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	151867	55739689	3389294	4485	20941										
ISOC2	79763	hgsc.bcm.edu	37	chr19	55967848	55967848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccaggctgggcctggcagcCgccattttctgggggtgggc	17	13	1	0	rs11555784	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:55967848C>T	ENST00000425675.2	-	2	66	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ISOC2_ENST00000438389.2_Silent_p.A2A|ISOC2_ENST00000085068.3_Silent_p.A2A			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	2					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GCCTGGCAGCCGCCATTTTCT	0.642													.|||	227	0.0453275	0.1316	0.0331	5008	,	,		15010	0.0		0.0268	False		,,,				2504	0.0031				p.A2A		Atlas-SNP	.											.	ISOC2	16	.	0			c.G6A						PASS	.	C	,,	528,3878	229.1+/-243.8	32,464,1707	44	44	44		6,6,6	-2.1	0.1	19	dbSNP_126	44	295,8303	103.6+/-164.7	7,281,4011	no	coding-synonymous,coding-synonymous,coding-synonymous	ISOC2	NM_001136201.1,NM_001136202.1,NM_024710.2	,,	39,745,5718	TT,TC,CC		3.431,11.9837,6.3288	,,	2/206,2/136,2/222	55967848	823,12181	2203	4299	6502	SO:0001819	synonymous_variant	79763	exon2			GGCAGCCGCCATT	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.6G>A	19.37:g.55967848C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	81	42	0.518519	NM_001136202	Q6ZN91|Q9H5G0	Silent	SNP	ENST00000425675.2	37	CCDS46195.1																																																																																			C|0.939;T|0.061	0.061	strong		0.642	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		T	55967848	C	T	55967848	2	4	23	1	0	0	0	0	0	0	0	1	7863	639	23	1		1	ISOC2	19	55967848	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	228159	55967848	3161135	4486	20942										
U2AF2	11338	hgsc.bcm.edu	37	chr19	56181019	56181019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcaagtccatcgagatcccCcggcctgtggacggcgtcga	13	14	1	1	rs147666260	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56181019C>T	ENST00000308924.4	+	11	1294	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	U2AF2_ENST00000450554.2_Silent_p.P414P|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Silent_p.P250P|CTD-2537I9.13_ENST00000592252.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	418	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCGAGATCCCCCGGCCTGTGG	0.657													C|||	15	0.00299521	0.0	0.0101	5008	,	,		16186	0.0		0.008	False		,,,				2504	0.0				p.P418P		Atlas-SNP	.											.	U2AF2	62	.	0			c.C1254T						PASS	.	C	,	9,4397	15.5+/-35.6	0,9,2194	123	111	115		1242,1254	-0.6	1	19	dbSNP_134	115	87,8513	48.5+/-108.0	1,85,4214	no	coding-synonymous,coding-synonymous	U2AF2	NM_001012478.1,NM_007279.2	,	1,94,6408	TT,TC,CC		1.0116,0.2043,0.7381	,	414/472,418/476	56181019	96,12910	2203	4300	6503	SO:0001819	synonymous_variant	11338	exon11			GATCCCCCGGCCT	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1254C>T	19.37:g.56181019C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	162	81	0.5	NM_007279	Q96HC5	Silent	SNP	ENST00000308924.4	37	CCDS12933.1																																																																																			C|0.994;T|0.006	0.006	strong		0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		T	56181019	C	T	56181019	2	4	23	1	0	0	0	0	0	0	0	1	16820	610	22	2		2	U2AF2	19	56181019	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	213171	56181019	2947964	4487	20943										
NLRP9	338321	hgsc.bcm.edu	37	chr19	56249672	56249672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagctccttaaatttccaAaactcttcctttctgagctc	5	12	2	1	rs56211941	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56249672A>G	ENST00000332836.2	-	1	96	c.69T>C	c.(67-69)ttT>ttC	p.F23F	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	23	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAATTTCCAAAACTCTTCCT	0.448													A|||	953	0.190296	0.0121	0.2349	5008	,	,		15384	0.1786		0.2068	False		,,,				2504	0.3947				p.F23F		Atlas-SNP	.											NLRP9,colon,carcinoma,0,1	NLRP9	163	1	0			c.T69C						PASS	.	A		162,4244	106.5+/-144.9	0,162,2041	120	128	125		69	0.5	0.4	19	dbSNP_129	125	1760,6840	316.8+/-312.9	191,1378,2731	no	coding-synonymous	NLRP9	NM_176820.2		191,1540,4772	GG,GA,AA		20.4651,3.6768,14.7778		23/992	56249672	1922,11084	2203	4300	6503	SO:0001819	synonymous_variant	338321	exon1			TTTCCAAAACTCT	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.69T>C	19.37:g.56249672A>G		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	158	76	0.481013	NM_176820	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																			A|0.852;G|0.148	0.148	strong		0.448	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		G	56249672	A	G	56249672	2	3	23	1	0	0	0	0	0	0	0	1	10484	11	1	2		2	NLRP9	19	56249672	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	68653	56249672	2879311	4488	20944										
NLRP4	147945	hgsc.bcm.edu	37	chr19	56392875	56392875	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgaggaaacccaggcactTctgacggctgaggaagagag	15	8	1	4	rs302456	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56392875T>G	ENST00000301295.6	+	10	3329	c.2907T>G	c.(2905-2907)ctT>ctG	p.L969L	NLRP4_ENST00000587891.1_Silent_p.L894L|NLRP4_ENST00000346986.5_Silent_p.L913L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	969					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L969L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAGGCACTTCTGACGGCTG	0.428													T|||	1257	0.250998	0.3525	0.2839	5008	,	,		18541	0.2063		0.2326	False		,,,				2504	0.1554				p.L969L		Atlas-SNP	.											NLRP4_ENST00000301295,colon,carcinoma,+2,2	NLRP4	331	2	1	Substitution - coding silent(1)	stomach(1)	c.T2907G						PASS	.	T		1455,2951	470.5+/-355.8	231,993,979	72	60	64		2907	-4.7	0	19	dbSNP_79	64	2382,6218	396.3+/-345.4	311,1760,2229	no	coding-synonymous	NLRP4	NM_134444.4		542,2753,3208	GG,GT,TT		27.6977,33.0232,29.5018		969/995	56392875	3837,9169	2203	4300	6503	SO:0001819	synonymous_variant	147945	exon10			GGCACTTCTGACG	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2907T>G	19.37:g.56392875T>G		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	51	28	0.54902	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			T|0.716;G|0.284	0.284	strong		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		G	56392875	T	G	56392875	2	3	23	1	0	0	0	0	0	0	0	1	10479	1770	62	5		5	NLRP4	19	56392875	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	143203	56392875	2736108	4489	20945										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56423074	56423074	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggtttgtaatactcactcCagaatttccaagtccctttc	5	11	1	1	rs977070	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56423074C>G	ENST00000342929.3	-	5	2108	c.2109G>C	c.(2107-2109)ctG>ctC	p.L703L	NLRP13_ENST00000588751.1_Silent_p.L703L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	703							ATP binding (GO:0005524)	p.L703L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATACTCACTCCAGAATTTCCA	0.393													C|||	2762	0.551518	0.7133	0.3674	5008	,	,		21051	0.5565		0.4573	False		,,,				2504	0.5552				p.L703L		Atlas-SNP	.											NLRP13,NS,carcinoma,0,1	NLRP13	220	1	1	Substitution - coding silent(1)	stomach(1)	c.G2109C						scavenged	.	C		2969,1437	644.6+/-398.0	999,971,233	77	86	83		2109	-0.4	0.1	19	dbSNP_86	83	3975,4625	535.2+/-382.8	933,2109,1258	no	coding-synonymous	NLRP13	NM_176810.2		1932,3080,1491	GG,GC,CC		46.2209,32.6146,46.6093		703/1044	56423074	6944,6062	2203	4300	6503	SO:0001819	synonymous_variant	126204	exon5			TCACTCCAGAATT	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2109G>C	19.37:g.56423074C>G		Somatic	106	2	0.0188679		WXS	Illumina HiSeq	Phase_I	82	82	1	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			C|0.480;G|0.520	0.520	strong		0.393	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		G	56423074	C	G	56423074	2	3	23	1	0	0	0	0	0	0	0	1	10475	581	21	4		4	NLRP13	19	56423074	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	30199	56423074	2705909	4490	20946										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56423893	56423893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcttcagacaggaacatacGgtccaacacaccatgggggc	11	12	1	1	rs303998	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56423893G>A	ENST00000342929.3	-	5	1289	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	NLRP13_ENST00000588751.1_Silent_p.T430T	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	430	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGAACATACGGTCCAACACA	0.453													G|||	3249	0.648762	0.6853	0.5058	5008	,	,		20553	0.7302		0.5905	False		,,,				2504	0.6769				p.T430T		Atlas-SNP	.											NLRP13,NS,malignant_melanoma,-1,1	NLRP13	220	1	0			c.C1290T						PASS	.	G		2929,1477	678.6+/-403.6	990,949,264	95	98	97		1290	-3.9	0	19	dbSNP_79	97	5236,3364	642.6+/-399.8	1599,2038,663	no	coding-synonymous	NLRP13	NM_176810.2		2589,2987,927	AA,AG,GG		39.1163,33.5225,37.2213		430/1044	56423893	8165,4841	2203	4300	6503	SO:0001819	synonymous_variant	126204	exon5			ACATACGGTCCAA	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1290C>T	19.37:g.56423893G>A		Somatic	122	1	0.00819672		WXS	Illumina HiSeq	Phase_I	115	110	0.956522	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			G|0.379;A|0.621	0.621	strong		0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56423893	G	A	56423893	2	1	23	1	0	0	0	0	0	0	0	1	10475	1103	39	1		1	NLRP13	19	56423893	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	819	56423893	2705090	4491	20947										
NLRP13	126204	hgsc.bcm.edu	37	chr19	56424443	56424443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgcccagtgcagcatagccTgcattgccaaggtggtcttc	11	12	1	0	rs303997	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56424443T>C	ENST00000342929.3	-	5	739	c.740A>G	c.(739-741)cAg>cGg	p.Q247R	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q247R	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		Q -> R (in dbSNP:rs303997). {ECO:0000269|PubMed:12563287}.				ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGCATAGCCTGCATTGCCAA	0.507													T|||	3329	0.664736	0.7405	0.5101	5008	,	,		17398	0.7302		0.5924	False		,,,				2504	0.6789				p.Q247R		Atlas-SNP	.											NLRP13,colon,carcinoma,0,2	NLRP13	220	2	0			c.A740G						scavenged	.	T	ARG/GLN	3145,1261	702.3+/-406.9	1126,893,184	105	106	105		740	2.8	0	19	dbSNP_79	105	5241,3359	642.8+/-399.9	1600,2041,659	yes	missense	NLRP13	NM_176810.2	43	2726,2934,843	CC,CT,TT		39.0581,28.6201,35.5221	benign	247/1044	56424443	8386,4620	2203	4300	6503	SO:0001583	missense	126204	exon5			ATAGCCTGCATTG	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.740A>G	19.37:g.56424443T>C	ENSP00000343891:p.Gln247Arg	Somatic	134	2	0.0149254		WXS	Illumina HiSeq	Phase_I	140	140	1	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	1395	0.6387362637362637	357	0.725609756097561	194	0.5359116022099447	406	0.7097902097902098	438	0.5778364116094987	T	11.93	1.785132	0.31593	0.713799	0.609419	ENSG00000173572	ENST00000342929	T	0.76839	-1.05	2.81	2.81	0.32909	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.00012	0.0000	N	0.05487	-0.04	0.80722	P	0.0	B	0.25609	0.13	B	0.28305	0.088	T	0.43180	-0.9407	8	0.39692	T	0.17	.	7.7212	0.28733	0.0:0.0:0.0:1.0	rs303997;rs306517;rs17668358;rs52826226;rs58328755;rs303997	247	Q86W25	NAL13_HUMAN	R	247	ENSP00000343891:Q247R	ENSP00000343891:Q247R	Q	-	2	0	NLRP13	61116255	0.947000	0.32204	0.006000	0.13384	0.103000	0.19146	4.167000	0.58209	1.271000	0.44313	0.482000	0.46254	CAG	C|0.641;N|0.000	0.641	strong		0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		C	56424443	T	C	56424443	3	2	23	1	0	0	0	0	1	0	0	0	10475	1580	55	3	2417	3	NLRP13	19	56424443	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	550	56424443	2704540	4492	20948										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56538832	56538832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgatcgtcaccgtcagagaCgtgggcacagagaagctcaa	12	11	3	3	rs1808663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56538832C>T	ENST00000390649.3	+	7	1233	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	411	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTCAGAGACGTGGGCACAG	0.562													C|||	210	0.0419329	0.0696	0.0735	5008	,	,		21053	0.0		0.0616	False		,,,				2504	0.0051				p.D411D		Atlas-SNP	.											NLRP5_ENST00000390649,NS,carcinoma,0,1	NLRP5	217	1	0			c.C1233T						scavenged	.	C		300,3898		10,280,1809	47	48	47		1233	2.3	0	19	dbSNP_92	47	445,7985		23,399,3793	no	coding-synonymous	NLRP5	NM_153447.4		33,679,5602	TT,TC,CC		5.2788,7.1463,5.8996		411/1201	56538832	745,11883	2099	4215	6314	SO:0001819	synonymous_variant	126206	exon7			CAGAGACGTGGGC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1233C>T	19.37:g.56538832C>T		Somatic	91	1	0.010989		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			C|0.950;T|0.050	0.050	strong		0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56538832	C	T	56538832	2	4	23	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56538832	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	114389	56538832	2590151	4493	20949										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56543982	56543982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccccctgacataggatgcGggataagaccctcattgagg	11	12	1	3	rs17713875	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56543982G>T	ENST00000390649.3	+	8	2282	c.2282G>T	c.(2281-2283)cGg>cTg	p.R761L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	761			R -> L (in dbSNP:rs17713875).		cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CATAGGATGCGGGATAAGACC	0.577													G|||	67	0.0133786	0.0008	0.0202	5008	,	,		19693	0.0		0.0477	False		,,,				2504	0.0041				p.R761L		Atlas-SNP	.											NLRP5,NS,carcinoma,+1,1	NLRP5	217	1	0			c.G2282T						scavenged	.	G	LEU/ARG	32,4022		0,32,1995	45	46	46		2282	-7.4	0	19	dbSNP_123	46	290,8130		12,266,3932	yes	missense	NLRP5	NM_153447.4	102	12,298,5927	TT,TG,GG		3.4442,0.7893,2.5814	benign	761/1201	56543982	322,12152	2027	4210	6237	SO:0001583	missense	126206	exon8			GGATGCGGGATAA	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2282G>T	19.37:g.56543982G>T	ENSP00000375063:p.Arg761Leu	Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	131	66	0.503817	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	43	0.019688644688644688	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	35	0.04617414248021108	G	5.886	0.347609	0.11126	0.007893	0.034442	ENSG00000171487	ENST00000390649	D	0.88586	-2.4	3.68	-7.36	0.01417	.	1.568660	0.04523	N	0.384938	T	0.42291	0.1196	L	0.33245	0.995	0.09310	N	1	B	0.18610	0.029	B	0.17433	0.018	T	0.58109	-0.7694	10	0.30078	T	0.28	.	3.4915	0.07639	0.2015:0.4832:0.201:0.1144	rs17713875;rs52815477;rs17713875	761	P59047	NALP5_HUMAN	L	761	ENSP00000375063:R761L	ENSP00000375063:R761L	R	+	2	0	NLRP5	61235794	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.931000	0.03967	-2.119000	0.00827	-0.858000	0.03015	CGG	G|0.978;T|0.022	0.022	strong		0.577	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56543982	G	T	56543982	3	4	23	1	0	0	0	0	1	0	0	0	10480	1116	39	4	2312	4	NLRP5	19	56543982	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	5150	56543982	2585001	4494	20950										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56549510	56549510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgacagaccagggagtaaTgcctctcagtgatgccttga	13	9	1	4	rs16986899	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56549510T>C	ENST00000390649.3	+	10	2735	c.2735T>C	c.(2734-2736)aTg>aCg	p.M912T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	912			M -> T (in dbSNP:rs16986899). {ECO:0000269|PubMed:11925379}.		cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.M912T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGGGAGTAATGCCTCTCAGT	0.532													C|||	1327	0.264976	0.4486	0.1398	5008	,	,		21362	0.3006		0.1889	False		,,,				2504	0.1472				p.M912T		Atlas-SNP	.											NLRP5,NS,carcinoma,0,1	NLRP5	217	1	1	Substitution - Missense(1)	stomach(1)	c.T2735C						scavenged	.	C	THR/MET	1623,2587		320,983,802	132	134	133		2735	-3.1	0	19	dbSNP_123	133	1407,7041		129,1149,2946	yes	missense	NLRP5	NM_153447.4	81	449,2132,3748	CC,CT,TT		16.6548,38.5511,23.9374	benign	912/1201	56549510	3030,9628	2105	4224	6329	SO:0001583	missense	126206	exon10			GAGTAATGCCTCT	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2735T>C	19.37:g.56549510T>C	ENSP00000375063:p.Met912Thr	Somatic	222	2	0.00900901		WXS	Illumina HiSeq	Phase_I	224	104	0.464286	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	580	0.26556776556776557	208	0.42276422764227645	57	0.1574585635359116	178	0.3111888111888112	137	0.18073878627968337	C	0.711	-0.787261	0.02907	0.385511	0.166548	ENSG00000171487	ENST00000390649	T	0.51817	0.69	3.59	-3.09	0.05331	.	1.126530	0.06995	N	0.822221	T	0.00012	0.0000	N	0.02315	-0.6	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40739	-0.9547	9	0.34782	T	0.22	.	2.2949	0.04147	0.2037:0.4503:0.2034:0.1426	rs16986899;rs52814735;rs60032233;rs16986899	912	P59047	NALP5_HUMAN	T	912	ENSP00000375063:M912T	ENSP00000375063:M912T	M	+	2	0	NLRP5	61241322	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.013000	0.12678	-1.137000	0.02888	-1.292000	0.01352	ATG	T|0.731;C|0.269	0.269	strong		0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		C	56549510	T	C	56549510	3	2	23	1	0	0	0	0	1	0	0	0	10480	1464	51	2	2773	2	NLRP5	19	56549510	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	5528	56549510	2579473	4495	20951										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56549532	56549532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctcagtgatgccttgagAgtctcccagtgcgccctgca	10	15	2	2	rs306447	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56549532A>G	ENST00000390649.3	+	10	2757	c.2757A>G	c.(2755-2757)agA>agG	p.R919R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	919					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R919R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGCCTTGAGAGTCTCCCAGT	0.522													G|||	1518	0.303115	0.4834	0.1758	5008	,	,		21896	0.3016		0.2406	False		,,,				2504	0.2157				p.R919R		Atlas-SNP	.											NLRP5,NS,carcinoma,0,1	NLRP5	217	1	1	Substitution - coding silent(1)	stomach(1)	c.A2757G						PASS	.	G		1782,2452		384,1014,719	133	134	134		2757	-2.2	0	19	dbSNP_79	134	1872,6602		218,1436,2583	no	coding-synonymous	NLRP5	NM_153447.4		602,2450,3302	GG,GA,AA		22.0911,42.0879,28.7535		919/1201	56549532	3654,9054	2117	4237	6354	SO:0001819	synonymous_variant	126206	exon10			CTTGAGAGTCTCC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2757A>G	19.37:g.56549532A>G		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	207	97	0.468599	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			A|0.693;G|0.307	0.307	strong		0.522	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		G	56549532	A	G	56549532	2	3	23	1	0	0	0	0	0	0	0	1	10480	301	11	3		3	NLRP5	19	56549532	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	22	56549532	2579451	4496	20952										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56572832	56572832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcagctactcaagccccgaGtcgtaattgacggtagttgg	12	10	1	1	rs10409555	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56572832G>A	ENST00000390649.3	+	15	3541	c.3541G>A	c.(3541-3543)Gtc>Atc	p.V1181I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1181			V -> I (in dbSNP:rs10409555).		cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAAGCCCCGAGTCGTAATTGA	0.517													A|||	1797	0.358826	0.466	0.2277	5008	,	,		19130	0.4415		0.2575	False		,,,				2504	0.3262				p.V1181I		Atlas-SNP	.											.	NLRP5	217	.	0			c.G3541A						PASS	.	A	ILE/VAL	1683,2261		356,971,645	133	130	131		3541	-6.7	0	19	dbSNP_119	131	2146,6148		278,1590,2279	yes	missense	NLRP5	NM_153447.4	29	634,2561,2924	AA,AG,GG		25.8741,42.6724,31.2878	benign	1181/1201	56572832	3829,8409	1972	4147	6119	SO:0001583	missense	126206	exon15			CCCCGAGTCGTAA	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3541G>A	19.37:g.56572832G>A	ENSP00000375063:p.Val1181Ile	Somatic	226	1	0.00442478		WXS	Illumina HiSeq	Phase_I	213	120	0.56338	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	744	0.34065934065934067	220	0.44715447154471544	83	0.2292817679558011	247	0.4318181818181818	194	0.2559366754617414	A	0.009	-1.828455	0.00584	0.426724	0.258741	ENSG00000171487	ENST00000390649	T	0.72394	-0.65	3.33	-6.66	0.01789	.	.	.	.	.	T	0.00012	0.0000	L	0.28274	0.84	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04153	-1.0973	8	0.09843	T	0.71	.	8.169	0.31243	0.1062:0.2707:0.5272:0.0958	rs10409555;rs52789679;rs56800517;rs10409555	1181	P59047	NALP5_HUMAN	I	1181	ENSP00000375063:V1181I	ENSP00000375063:V1181I	V	+	1	0	NLRP5	61264644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.531000	0.02219	-4.845000	0.00029	-3.614000	0.00027	GTC	G|0.645;A|0.355	0.355	strong		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56572832	G	A	56572832	3	1	23	1	0	0	0	0	1	0	0	0	10480	1029	36	2	3599	2	NLRP5	19	56572832	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	23300	56572832	2556151	4497	20953										
ZSCAN5B	342933	hgsc.bcm.edu	37	chr19	56703248	56703248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggacagtgcagcgaccctggGcaggatctgctgctctcggc	15	13	2	0	rs527025	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56703248G>A	ENST00000586855.2	-	3	872	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P187S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	187			P -> S (in dbSNP:rs527025).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCGACCCTGGGCAGGATCTGC	0.622													G|||	1232	0.246006	0.1936	0.2032	5008	,	,		14284	0.2798		0.2932	False		,,,				2504	0.2638				p.P187S		Atlas-SNP	.											.	ZSCAN5B	160	.	0			c.C559T						PASS	.	G	SER/PRO	899,3507	327.2+/-299.9	90,719,1394	35	36	35		559	-2.5	0	19	dbSNP_83	35	2700,5900	402.8+/-347.6	427,1846,2027	yes	missense	ZSCAN5B	NM_001080456.2	74	517,2565,3421	AA,AG,GG		31.3953,20.404,27.6718	probably-damaging	187/496	56703248	3599,9407	2203	4300	6503	SO:0001583	missense	342933	exon2			CCCTGGGCAGGAT		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.559C>T	19.37:g.56703248G>A	ENSP00000466072:p.Pro187Ser	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	92	51	0.554348	NM_001080456		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	556	0.25457875457875456	95	0.19308943089430894	78	0.2154696132596685	160	0.27972027972027974	223	0.2941952506596306	G	11.85	1.762444	0.31228	0.20404	0.313953	ENSG00000197213	ENST00000358992	T	0.06449	3.3	1.9	-2.51	0.06365	.	.	.	.	.	T	0.00012	0.0000	M	0.82517	2.595	0.80722	P	0.0	D	0.89917	1.0	D	0.83275	0.996	T	0.20140	-1.0284	8	0.32370	T	0.25	.	3.8942	0.09131	0.1953:0.4955:0.3092:0.0	rs527025;rs527025	187	A6NJL1	ZSA5B_HUMAN	S	187	ENSP00000351883:P187S	ENSP00000351883:P187S	P	-	1	0	ZSCAN5B	61395060	0.001000	0.12720	0.000000	0.03702	0.041000	0.13682	-0.393000	0.07305	-0.516000	0.06470	0.306000	0.20318	CCC	G|0.725;A|0.275	0.275	strong		0.622	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		A	56703248	G	A	56703248	3	1	23	1	0	0	0	0	1	0	0	0	18236	1203	42	2	940	2	ZSCAN5B	19	56703248	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	130416	56703248	2425735	4498	20954										
ZSCAN5B	342933	hgsc.bcm.edu	37	chr19	56704101	56704101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttgcagctctgcacaccGttcaccttgactaagacctg	7	14	3	2	rs11084427	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56704101G>A	ENST00000586855.2	-	2	634	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ZSCAN5B_ENST00000358992.3_Silent_p.N107N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTGCACACCGTTCACCTTGA	0.552													G|||	1060	0.211661	0.0681	0.1988	5008	,	,		18806	0.2798		0.2942	False		,,,				2504	0.2597				p.N107N		Atlas-SNP	.											.	ZSCAN5B	160	.	0			c.C321T						PASS	.	G		444,3946		27,390,1778	36	39	38		321	-1	0	19	dbSNP_120	38	2653,5865		421,1811,2027	no	coding-synonymous	ZSCAN5B	NM_001080456.2		448,2201,3805	AA,AG,GG		31.1458,10.1139,23.9929		107/496	56704101	3097,9811	2195	4259	6454	SO:0001819	synonymous_variant	342933	exon1			CACACCGTTCACC		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.321C>T	19.37:g.56704101G>A		Somatic	645	1	0.00155039		WXS	Illumina HiSeq	Phase_I	706	272	0.385269	NM_001080456		Silent	SNP	ENST00000586855.2	37	CCDS46203.1																																																																																			G|0.869;A|0.131	0.131	strong		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		A	56704101	G	A	56704101	2	1	23	1	0	0	0	0	0	0	0	1	18236	1136	40	1		1	ZSCAN5B	19	56704101	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	853	56704101	2424882	4499	20955										
ZSCAN5A	79149	hgsc.bcm.edu	37	chr19	56736102	56736102	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctctgcacaccgttcatcAtgactaagacctggagctcc	8	14	3	2	rs201600248		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56736102A>T	ENST00000587340.1	-	4	1009	c.314T>A	c.(313-315)aTg>aAg	p.M105K	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M105K|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M105K|ZSCAN5A_ENST00000587492.1_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M105K(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACCGTTCATCATGACTAAGAC	0.552																																					p.M105K		Atlas-SNP	.											ZSCAN5A,trunk,malignant_melanoma,0,2	ZSCAN5A	118	2	2	Substitution - Missense(2)	skin(2)	c.T314A						scavenged	.						19	19	19					19																	56736102		2141	4214	6355	SO:0001583	missense	79149	exon2			TTCATCATGACTA	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.314T>A	19.37:g.56736102A>T	ENSP00000467631:p.Met105Lys	Somatic	900	1	0.00111111		WXS	Illumina HiSeq	Phase_I	690	9	0.0130435	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.262023	0.00262	.	.	ENSG00000131848	ENST00000391713	T	0.03745	3.82	2.27	-1.24	0.09435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.00637	0.0021	N	0.00086	-2.195	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44817	-0.9303	9	0.02654	T	1	.	2.254	0.04051	0.2591:0.3296:0.0:0.4112	.	105	Q9BUG6	ZSA5A_HUMAN	K	105	ENSP00000375593:M105K	ENSP00000375593:M105K	M	-	2	0	ZSCAN5A	61427914	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.751000	0.00792	-0.413000	0.07507	-0.669000	0.03829	ATG	.	.	weak		0.552	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		T	56736102	A	T	56736102	3	4	23	1	0	0	0	0	1	0	0	0	18235	217	8	5	1192	5	ZSCAN5A	19	56736102	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	32001	56736102	2392881	4500	20956										
ZNF667	63934	hgsc.bcm.edu	37	chr19	56954103	56954103	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcttggtctcacatttagaCcccgagtctgaaagacataa	7	10	3	3	rs7253217	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:56954103C>A	ENST00000504904.3	-	7	980	c.261G>T	c.(259-261)ggG>ggT	p.G87G	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.G215G|ZNF667_ENST00000292069.6_Silent_p.G87G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACATTTAGACCCCGAGTCTG	0.348													C|||	810	0.161741	0.1483	0.1873	5008	,	,		17863	0.0754		0.2406	False		,,,				2504	0.1697				p.G87G		Atlas-SNP	.											.	ZNF667	95	.	0			c.G261T						PASS	.	C		629,3655		54,521,1567	44	48	46		261	1	0.5	19	dbSNP_116	46	1560,6690		146,1268,2711	no	coding-synonymous	ZNF667	NM_022103.3		200,1789,4278	AA,AC,CC		18.9091,14.6825,17.4645		87/611	56954103	2189,10345	2142	4125	6267	SO:0001819	synonymous_variant	63934	exon5			TTTAGACCCCGAG		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.261G>T	19.37:g.56954103C>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	32	20	0.625	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																			C|0.825;A|0.175	0.175	strong		0.348	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		A	56954103	C	A	56954103	2	1	23	1	0	0	0	0	0	0	0	1	18071	494	18	4		4	ZNF667	19	56954103	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	218001	56954103	2174880	4501	20957										
ZNF471	57573	hgsc.bcm.edu	37	chr19	57036012	57036012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcttctccaaaaattctatGgtaataaaacacaagaaagt	5	7	2	1	rs11667052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57036012G>T	ENST00000308031.5	+	5	709	c.576G>T	c.(574-576)atG>atT	p.M192I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	192			M -> I (in dbSNP:rs11667052). {ECO:0000269|PubMed:10718198}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAATTCTATGGTAATAAAAC	0.299													G|||	920	0.183706	0.2337	0.1398	5008	,	,		18537	0.0526		0.2813	False		,,,				2504	0.182				p.M192I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Atlas-SNP	.											.	ZNF471	99	.	0			c.G576T						PASS	.	G	ILE/MET	1006,3392		119,768,1312	26	28	27		576	1.7	0	19	dbSNP_120	27	2159,6419		308,1543,2438	yes	missense	ZNF471	NM_020813.2	10	427,2311,3750	TT,TG,GG		25.169,22.874,24.3912	benign	192/627	57036012	3165,9811	2199	4289	6488	SO:0001583	missense	57573	exon5			TTCTATGGTAATA	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.576G>T	19.37:g.57036012G>T	ENSP00000309161:p.Met192Ile	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	50	28	0.56	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	428	0.19597069597069597	120	0.24390243902439024	59	0.16298342541436464	34	0.05944055944055944	215	0.2836411609498681	G	1.290	-0.607754	0.03717	0.22874	0.25169	ENSG00000196263	ENST00000308031	T	0.14516	2.5	3.87	1.71	0.24356	.	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46205	-0.9208	8	0.23302	T	0.38	.	6.9352	0.24463	0.3009:0.0:0.6991:0.0	rs11667052;rs52814044;rs58037293;rs11667052	192	Q9BX82	ZN471_HUMAN	I	192	ENSP00000309161:M192I	ENSP00000309161:M192I	M	+	3	0	ZNF471	61727824	.	.	0.001000	0.08648	0.789000	0.44602	.	.	0.427000	0.26145	-0.253000	0.11424	ATG	G|0.792;T|0.208	0.208	strong		0.299	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		T	57036012	G	T	57036012	3	4	23	1	0	0	0	0	1	0	0	0	17927	1348	47	4	590	4	ZNF471	19	57036012	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	81909	57036012	2092971	4502	20958										
ZNF471	57573	hgsc.bcm.edu	37	chr19	57037103	57037103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagccttcagccaaacttCcaatcttactcaacatcaaa	3	13	4	0	rs16987303	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57037103C>G	ENST00000308031.5	+	5	1800	c.1667C>G	c.(1666-1668)tCc>tGc	p.S556C	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	556			S -> C (in dbSNP:rs16987303). {ECO:0000269|PubMed:10718198}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCAAACTTCCAATCTTACT	0.408													C|||	414	0.0826677	0.0068	0.0994	5008	,	,		20133	0.004		0.2008	False		,,,				2504	0.1329				p.S556C	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Atlas-SNP	.											.	ZNF471	99	.	0			c.C1667G						PASS	.	C	CYS/SER	138,4268	99.4+/-138.0	5,128,2070	90	93	92		1667	3.9	0	19	dbSNP_123	92	1609,6991	299.5+/-304.5	158,1293,2849	no	missense	ZNF471	NM_020813.2	112	163,1421,4919	GG,GC,CC		18.7093,3.1321,13.4323	probably-damaging	556/627	57037103	1747,11259	2203	4300	6503	SO:0001583	missense	57573	exon5			AAACTTCCAATCT	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1667C>G	19.37:g.57037103C>G	ENSP00000309161:p.Ser556Cys	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	70	33	0.471429	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	198	0.09065934065934066	7	0.014227642276422764	43	0.11878453038674033	1	0.0017482517482517483	147	0.19393139841688653	C	13.46	2.244568	0.39697	0.031321	0.187093	ENSG00000196263	ENST00000308031	T	0.01725	4.67	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.83312	2.635	0.37354	P	0.08905799999999997	P	0.47350	0.894	B	0.43916	0.436	T	0.33574	-0.9863	8	0.66056	D	0.02	.	10.2455	0.43339	0.1985:0.8015:0.0:0.0	rs16987303;rs52813441;rs16987303	556	Q9BX82	ZN471_HUMAN	C	556	ENSP00000309161:S556C	ENSP00000309161:S556C	S	+	2	0	ZNF471	61728915	0.000000	0.05858	0.009000	0.14445	0.932000	0.56968	-0.046000	0.11983	2.005000	0.58758	0.462000	0.41574	TCC	C|0.882;G|0.118	0.118	strong		0.408	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		G	57037103	C	G	57037103	3	3	23	1	0	0	0	0	1	0	0	0	17927	855	30	4	1681	4	ZNF471	19	57037103	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1091	57037103	2091880	4503	20959										
ZFP28	140612	hgsc.bcm.edu	37	chr19	57066013	57066013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagaagccttttgaatgtgCggagtgtggaaaatccttca	13	6	1	2	rs10409531	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57066013C>T	ENST00000301318.3	+	8	1930	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	620			A -> V (in dbSNP:rs10409531).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A620V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTTGAATGTGCGGAGTGTGGA	0.428													C|||	2048	0.408946	0.5953	0.304	5008	,	,		20994	0.2986		0.3509	False		,,,				2504	0.4049				p.A620V	Ovarian(124;554 1662 19430 21141 52494)	Atlas-SNP	.											ZFP28,NS,carcinoma,0,1	ZFP28	99	1	1	Substitution - Missense(1)	stomach(1)	c.C1859T						scavenged	.	C	VAL/ALA	2432,1974	616.5+/-392.8	666,1100,437	97	107	103		1859	0.9	1	19	dbSNP_119	103	2867,5733	449.6+/-362.1	497,1873,1930	yes	missense	ZFP28	NM_020828.1	64	1163,2973,2367	TT,TC,CC		33.3372,44.8025,40.7427	benign	620/869	57066013	5299,7707	2203	4300	6503	SO:0001583	missense	140612	exon8			AATGTGCGGAGTG		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1859C>T	19.37:g.57066013C>T	ENSP00000301318:p.Ala620Val	Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	150	69	0.46	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	818	0.37454212454212454	284	0.5772357723577236	112	0.30939226519337015	160	0.27972027972027974	262	0.34564643799472294	C	11.19	1.566773	0.28003	0.551975	0.333372	ENSG00000196867	ENST00000301318	T	0.07688	3.17	4.23	0.896	0.19253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.303860	0.23997	N	0.042507	T	0.00012	0.0000	N	0.17872	0.535	0.58432	P	4.000000000004E-6	B	0.29909	0.261	B	0.31614	0.133	T	0.26430	-1.0103	9	0.44086	T	0.13	.	6.5728	0.22549	0.1344:0.5349:0.3307:0.0	rs10409531;rs17305444;rs52820939;rs56805806;rs10409531	620	Q8NHY6	ZFP28_HUMAN	V	620	ENSP00000301318:A620V	ENSP00000301318:A620V	A	+	2	0	ZFP28	61757825	0.000000	0.05858	0.988000	0.46212	0.984000	0.73092	-1.939000	0.01545	0.536000	0.28733	-0.235000	0.12190	GCG	C|0.594;T|0.406	0.406	strong		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		T	57066013	C	T	57066013	3	4	23	1	0	0	0	0	1	0	0	0	17639	768	27	1	1889	1	ZFP28	19	57066013	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28910	57066013	2062970	4504	20960										
ZNF470	388566	hgsc.bcm.edu	37	chr19	57085769	57085769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtgtcattttagggttcaGtgactttcacagatgtggcc	11	7	3	2	rs10421285	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57085769G>C	ENST00000330619.8	+	4	753	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	ZNF470_ENST00000391709.3_Missense_Mutation_p.V23L|ZNF470_ENST00000601902.1_Missense_Mutation_p.V23L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		V -> L (in dbSNP:rs10421285). {ECO:0000269|PubMed:15302581}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V23L(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTAGGGTTCAGTGACTTTCAC	0.403													G|||	2123	0.423922	0.6657	0.3357	5008	,	,		20025	0.2788		0.3698	False		,,,				2504	0.365				p.V23L		Atlas-SNP	.											ZNF470,NS,carcinoma,0,1	ZNF470	103	1	1	Substitution - Missense(1)	stomach(1)	c.G67C						PASS	.	G	LEU/VAL	2705,1701	652.9+/-399.5	827,1051,325	182	166	171		67	-3.1	0	19	dbSNP_119	171	3139,5461	478.2+/-369.8	605,1929,1766	yes	missense	ZNF470	NM_001001668.3	32	1432,2980,2091	CC,CG,GG		36.5,38.6064,44.9331	benign	23/718	57085769	5844,7162	2203	4300	6503	SO:0001583	missense	388566	exon4			GGTTCAGTGACTT	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.67G>C	19.37:g.57085769G>C	ENSP00000333223:p.Val23Leu	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	162	88	0.54321	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	867	0.39697802197802196	317	0.6443089430894309	127	0.35082872928176795	147	0.256993006993007	276	0.3641160949868074	G	7.600	0.672565	0.14776	0.613936	0.365	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.04862	3.54;3.54	3.58	-3.06	0.05379	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	L	0.53671	1.685	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31364	-0.9946	8	0.21540	T	0.41	.	4.4059	0.11409	0.4026:0.3162:0.2812:0.0	rs10421285;rs56621387;rs10421285	23	Q6ECI4	ZN470_HUMAN	L	23	ENSP00000375590:V23L;ENSP00000333223:V23L	ENSP00000333223:V23L	V	+	1	0	ZNF470	61777581	0.661000	0.27430	0.034000	0.17996	0.830000	0.47004	0.740000	0.26188	-0.621000	0.05633	-0.182000	0.12963	GTG	G|0.566;C|0.434	0.434	strong		0.403	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		C	57085769	G	C	57085769	3	2	23	1	0	0	0	0	1	0	0	0	17926	1029	36	4	73	4	ZNF470	19	57085769	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19756	57085769	2043214	4505	20961										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57175121	57175121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcgcggaggagaagctgaaGgccttcccgcagccgctgca	15	13	0	2	rs115625349	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57175121G>A	ENST00000537055.2	-	2	1677	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	482					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAAGCTGAAGGCCTTCCCGC	0.642													.|||	408	0.0814696	0.233	0.0346	5008	,	,		16940	0.0258		0.0099	False		,,,				2504	0.0409				p.A482A		Atlas-SNP	.											.	ZNF835	106	.	0			c.C1446T						PASS	.	G		929,3477	333.6+/-303.0	99,731,1373	123	137	133		1446	1.9	1	19	dbSNP_132	133	164,8436	76.6+/-139.3	1,162,4137	no	coding-synonymous	ZNF835	NM_001005850.2		100,893,5510	AA,AG,GG		1.907,21.0849,8.4038		482/538	57175121	1093,11913	2203	4300	6503	SO:0001819	synonymous_variant	90485	exon2			GCTGAAGGCCTTC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1446C>T	19.37:g.57175121G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	121	58	0.479339	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			G|0.942;A|0.058	0.058	strong		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		A	57175121	G	A	57175121	2	1	23	1	0	0	0	0	0	0	0	1	18183	987	35	2		2	ZNF835	19	57175121	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	89352	57175121	1953862	4506	20962										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176096	57176096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctcgcccgtgtgcgtgcgCtggtgcagggtcaggtgcac	16	12	2	0	rs77114013	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57176096C>G	ENST00000537055.2	-	2	702	c.471G>C	c.(469-471)caG>caC	p.Q157H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	157					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTGCGTGCGCTGGTGCAGGG	0.667													.|||	122	0.024361	0.003	0.013	5008	,	,		12795	0.0675		0.0308	False		,,,				2504	0.0102				p.Q157H		Atlas-SNP	.											.	ZNF835	106	.	0			c.G471C						PASS	.	C	HIS/GLN	31,4375	36.0+/-67.5	0,31,2172	40	42	41		471	2.7	0.6	19	dbSNP_132	41	228,8372	93.1+/-155.1	6,216,4078	no	missense	ZNF835	NM_001005850.2	24	6,247,6250	GG,GC,CC		2.6512,0.7036,1.9914	probably-damaging	157/538	57176096	259,12747	2203	4300	6503	SO:0001583	missense	90485	exon2			CGTGCGCTGGTGC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.471G>C	19.37:g.57176096C>G	ENSP00000444747:p.Gln157His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	36	18	0.5	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	63	0.028846153846153848	4	0.008130081300813009	5	0.013812154696132596	29	0.050699300699300696	25	0.032981530343007916	C	16.04	3.008827	0.54361	0.007036	0.026512	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	2.68	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	L	0.60957	1.885	0.09310	N	1	D	0.58970	0.984	P	0.45753	0.492	T	0.24225	-1.0166	9	0.56958	D	0.05	.	5.5238	0.16947	0.0:0.8415:0.0:0.1585	.	179	Q9Y2P0	ZN835_HUMAN	H	179;157	ENSP00000444747:Q157H	ENSP00000341756:Q179H	Q	-	3	2	ZNF835	61867908	0.000000	0.05858	0.550000	0.28217	0.993000	0.82548	0.553000	0.23391	1.494000	0.48533	0.561000	0.74099	CAG	C|0.972;G|0.028	0.028	strong		0.667	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57176096	C	G	57176096	3	3	23	1	0	0	0	0	1	0	0	0	18183	796	28	4	1144	4	ZNF835	19	57176096	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	975	57176096	1952887	4507	20963										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176304	57176304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgcctctccttcgggctcTccccaggcgcgctgcacctc	10	19	2	0	rs12460400	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57176304T>G	ENST00000537055.2	-	2	494	c.263A>C	c.(262-264)gAg>gCg	p.E88A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	88			E -> A (in dbSNP:rs12460400). {ECO:0000269|PubMed:14702039}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCGGGCTCTCCCCAGGCGC	0.637													.|||	2007	0.400759	0.4123	0.3732	5008	,	,		15470	0.4702		0.3121	False		,,,				2504	0.4243				p.E88A		Atlas-SNP	.											.	ZNF835	106	.	0			c.A263C						PASS	.	T	ALA/GLU	1630,2550		347,936,807	54	59	57		263	-1	0	19	dbSNP_120	57	2524,5938		380,1764,2087	no	missense	ZNF835	NM_001005850.2	107	727,2700,2894	GG,GT,TT		29.8275,38.9952,32.8587	benign	88/538	57176304	4154,8488	2090	4231	6321	SO:0001583	missense	90485	exon2			GGGCTCTCCCCAG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.263A>C	19.37:g.57176304T>G	ENSP00000444747:p.Glu88Ala	Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	88	87	0.988636	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	847	0.38782051282051283	215	0.4369918699186992	127	0.35082872928176795	264	0.46153846153846156	241	0.3179419525065963	T	6.640	0.486634	0.12641	0.389952	0.298275	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06849	3.25	2.58	-1.04	0.10068	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.11235	0.004	B	0.12837	0.008	T	0.44605	-0.9317	8	0.72032	D	0.01	.	2.9659	0.05908	0.0:0.2978:0.2397:0.4625	rs12460400	110	Q9Y2P0	ZN835_HUMAN	A	110;88	ENSP00000444747:E88A	ENSP00000341756:E110A	E	-	2	0	ZNF835	61868116	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.149000	0.10204	-0.483000	0.06772	0.459000	0.35465	GAG	T|0.628;G|0.372	0.372	strong		0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57176304	T	G	57176304	3	3	23	1	0	0	0	0	1	0	0	0	18183	1551	54	5	1352	5	ZNF835	19	57176304	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	208	57176304	1952679	4508	20964										
ZNF835	90485	hgsc.bcm.edu	37	chr19	57176482	57176482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggacagctttcctggttttCctgcaggtcctcaacctggc	10	13	1	0	rs12462469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57176482C>T	ENST00000537055.2	-	2	316	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	29			E -> K (in dbSNP:rs12462469). {ECO:0000269|PubMed:14702039}.		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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCTGGTTTTCCTGCAGGTCC	0.607													.|||	2065	0.41234	0.4531	0.379	5008	,	,		15832	0.4702		0.3131	False		,,,				2504	0.4233				p.E29K		Atlas-SNP	.											.	ZNF835	106	.	0			c.G85A						PASS	.	C	LYS/GLU	1677,2285		367,943,671	75	79	78		85	1.1	0	19	dbSNP_120	78	2491,5819		372,1747,2036	yes	missense	ZNF835	NM_001005850.2	56	739,2690,2707	TT,TC,CC		29.9759,42.3271,33.9635	benign	29/538	57176482	4168,8104	1981	4155	6136	SO:0001583	missense	90485	exon2			GGTTTTCCTGCAG	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.85G>A	19.37:g.57176482C>T	ENSP00000444747:p.Glu29Lys	Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	88	88	1	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	865	0.39606227106227104	232	0.4715447154471545	128	0.35359116022099446	264	0.46153846153846156	241	0.3179419525065963	C	8.447	0.852126	0.17034	0.423271	0.299759	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06142	3.34	2.19	1.09	0.20402	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.26318	0.146	B	0.24974	0.057	T	0.38735	-0.9647	8	0.06236	T	0.91	.	6.5636	0.22499	0.0:0.6963:0.3037:0.0	rs12462469	51	Q9Y2P0	ZN835_HUMAN	K	51;29	ENSP00000444747:E29K	ENSP00000341756:E51K	E	-	1	0	ZNF835	61868294	0.000000	0.05858	0.007000	0.13788	0.062000	0.15995	0.145000	0.16157	0.467000	0.27218	0.491000	0.48974	GAA	C|0.621;T|0.379	0.379	strong		0.607	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		T	57176482	C	T	57176482	3	4	23	1	0	0	0	0	1	0	0	0	18183	864	30	2	1530	2	ZNF835	19	57176482	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	178	57176482	1952501	4509	20965										
USP29	57663	hgsc.bcm.edu	37	chr19	57642782	57642782	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgatccctcagggggaataCgaaggtgactctttgtacag	13	8	2	2	rs9973206	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57642782C>A	ENST00000254181.4	+	4	3193	c.2739C>A	c.(2737-2739)taC>taA	p.Y913*	U3_ENST00000516874.1_RNA|USP29_ENST00000598197.1_Nonsense_Mutation_p.Y913*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	913					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGGGAATACGAAGGTGACT	0.478													A|||	4768	0.952077	0.9932	0.9265	5008	,	,		18674	1.0		0.837	False		,,,				2504	0.9836				p.Y913X		Atlas-SNP	.											.	USP29	186	.	0			c.C2739A						PASS	.	A	stop/TYR	4292,112		2092,108,2	67	76	73		2739	-0.6	0	19	dbSNP_119	73	7190,1410		3009,1172,119	yes	stop-gained	USP29	NM_020903.2		5101,1280,121	AA,AC,CC		16.3953,2.5431,11.7041		913/923	57642782	11482,1522	2202	4300	6502	SO:0001587	stop_gained	57663	exon4			GGAATACGAAGGT		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2739C>A	19.37:g.57642782C>A	ENSP00000254181:p.Tyr913*	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	123	123	1	NM_020903		Nonsense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	2038	0.9331501831501832	489	0.9939024390243902	335	0.925414364640884	572	1.0	642	0.8469656992084432	A	38	7.164934	0.98107	0.974569	0.836047	ENSG00000131864	ENST00000254181	.	.	.	2.3	-0.625	0.11548	.	.	.	.	.	.	.	.	.	.	.	0.44570	P	0.0024619999999999642	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1149	0.00059	0.31:0.2293:0.2353:0.2255	rs9973206;rs52797075;rs56429327;rs58316037;rs9973206	.	.	.	X	913	.	ENSP00000254181:Y913X	Y	+	3	2	USP29	62334594	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.277000	0.18734	-0.616000	0.05671	-1.534000	0.00916	TAC	C|0.100;A|0.900	0.900	strong		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57642782	C	A	57642782	4	1	23	1	0	0	0	0	0	1	0	0	17056	547	19	4	2741	4	USP29	19	57642782	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	466300	57642782	1486201	4510	20966										
ZIM3	114026	hgsc.bcm.edu	37	chr19	57649884	57649884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctccagcatcacatccctgTacaagtttctctgttcggga	7	13	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57649884T>C	ENST00000269834.1	-	3	483	c.98A>G	c.(97-99)tAc>tGc	p.Y33C		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATCCCTGTACAAGTTTCT	0.532																																					p.Y33C		Atlas-SNP	.											ZIM3,NS,carcinoma,-1,1	ZIM3	107	1	0			c.A98G						scavenged	.						109	95	100					19																	57649884		2203	4300	6503	SO:0001583	missense	114026	exon3			TCCCTGTACAAGT	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.98A>G	19.37:g.57649884T>C	ENSP00000269834:p.Tyr33Cys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	136	5	0.0367647	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644026	0.29246	.	.	ENSG00000141946	ENST00000269834	T	0.07021	3.23	3.07	2.0	0.26442	Krueppel-associated box (4);	.	.	.	.	T	0.15565	0.0375	M	0.93106	3.38	0.22066	N	0.999387	P	0.45986	0.87	B	0.38562	0.276	T	0.19976	-1.0289	9	0.87932	D	0	.	6.4192	0.21734	0.0:0.1331:0.0:0.8669	.	33	Q96PE6	ZIM3_HUMAN	C	33	ENSP00000269834:Y33C	ENSP00000269834:Y33C	Y	-	2	0	ZIM3	62341696	0.810000	0.29049	0.193000	0.23327	0.404000	0.30871	2.363000	0.44178	0.250000	0.21479	0.172000	0.16884	TAC	.	.	none		0.532	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			C	57649884	T	C	57649884	3	2	23	1	0	0	0	0	1	0	0	0	17682	1638	57	2	1332	2	ZIM3	19	57649884	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	7102	57649884	1479099	4511	20967										
ZNF805	390980	hgsc.bcm.edu	37	chr19	57760057	57760057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggaagacctctcccaagGcacctgtccaggtaggagcc	12	13	1	1	rs3746231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57760057G>A	ENST00000414468.2	+	3	242	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF805_ENST00000354309.4_5'UTR|ZNF805_ENST00000535550.1_5'UTR	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CTCTCCCAAGGCACCTGTCCA	0.577													.|||	1836	0.366613	0.2489	0.4496	5008	,	,		19467	0.1687		0.5746	False		,,,				2504	0.4571				p.G81D		Atlas-SNP	.											.	ZNF805	30	.	0			c.G242A						PASS	.	G	ASP/GLY,	383,1001		52,279,361	59	54	56		242,	2.5	0	19	dbSNP_107	56	1646,1536		429,788,374	no	missense,utr-5	ZNF805	NM_001023563.3,NM_001145078.1	94,	481,1067,735	AA,AG,GG		48.2715,27.6734,44.4371	benign,	81/628,	57760057	2029,2537	692	1591	2283	SO:0001583	missense	390980	exon3			CCCAAGGCACCTG	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.242G>A	19.37:g.57760057G>A	ENSP00000412999:p.Gly81Asp	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	124	124	1	NM_001023563	B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	792	0.3626373626373626	114	0.23170731707317074	166	0.4585635359116022	100	0.17482517482517482	412	0.5435356200527705	G	2.919	-0.223725	0.06061	0.276734	0.517285	ENSG00000204524	ENST00000414468	T	0.21191	2.02	4.67	2.54	0.30619	Krueppel-associated box (1);	.	.	.	.	T	0.00012	0.0000	L	0.31420	0.93	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.42799	-0.9430	8	0.23891	T	0.37	.	8.8209	0.35025	0.2708:0.0:0.7292:0.0	rs3746231;rs60834144;rs3746231	81	Q5CZA5	ZN805_HUMAN	D	81	ENSP00000412999:G81D	ENSP00000412999:G81D	G	+	2	0	ZNF805	62451869	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.190000	0.17057	0.214000	0.20742	-0.797000	0.03246	GGC	G|0.643;A|0.357	0.357	strong		0.577	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		A	57760057	G	A	57760057	3	1	23	1	0	0	0	0	1	0	0	0	18169	1203	42	2	252	2	ZNF805	19	57760057	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	110173	57760057	1368926	4512	20968										
ZNF805	390980	hgsc.bcm.edu	37	chr19	57764770	57764770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggatcaggtaaaaatccaGttattcaggaagaggaaaat	10	4	2	1	rs10421632	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57764770G>A	ENST00000414468.2	+	4	583	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ZNF805_ENST00000354309.4_Missense_Mutation_p.V62I|ZNF805_ENST00000535550.1_Missense_Mutation_p.V62I	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TAAAAATCCAGTTATTCAGGA	0.413													.|||	1831	0.365615	0.2421	0.4481	5008	,	,		22087	0.1766		0.5746	False		,,,				2504	0.454				p.V195I		Atlas-SNP	.											.	ZNF805	30	.	0			c.G583A						PASS	.	A	ILE/VAL,ILE/VAL	375,1009		49,277,366	122	105	110		583,184	-8.7	0	19	dbSNP_119	110	1647,1535		429,789,373	yes	missense,missense	ZNF805	NM_001023563.3,NM_001145078.1	29,29	478,1066,739	AA,AG,GG		48.2401,27.0954,44.2838	benign,benign	195/628,62/495	57764770	2022,2544	692	1591	2283	SO:0001583	missense	390980	exon4			AATCCAGTTATTC	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.583G>A	19.37:g.57764770G>A	ENSP00000412999:p.Val195Ile	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	130	130	1	NM_001023563	B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	848	0.3882783882783883	129	0.2621951219512195	174	0.48066298342541436	112	0.1958041958041958	433	0.5712401055408971	g	6.573	0.474080	0.12521	0.270954	0.517599	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.06371	3.31;3.47;3.31	4.35	-8.7	0.00851	.	.	.	.	.	T	0.00012	0.0000	N	0.05050	-0.12	0.80722	P	0.0	B	0.18166	0.026	B	0.12837	0.008	T	0.43702	-0.9375	8	0.54805	T	0.06	.	2.344	0.04267	0.3727:0.0955:0.3431:0.1887	rs10421632;rs52822092;rs10421632	195	Q5CZA5	ZN805_HUMAN	I	62;195;62	ENSP00000440067:V62I;ENSP00000412999:V195I;ENSP00000365414:V62I	ENSP00000365414:V62I	V	+	1	0	ZNF805	62456582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.992000	0.00657	-3.127000	0.00237	-2.384000	0.00231	GTT	G|0.634;A|0.366	0.366	strong		0.413	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		A	57764770	G	A	57764770	3	1	23	1	0	0	0	0	1	0	0	0	18169	1029	36	2	597	2	ZNF805	19	57764770	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4713	57764770	1364213	4513	20969										
ZNF460	10794	hgsc.bcm.edu	37	chr19	57802806	57802806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccaattttgtcttgcataaCaagagccacaatgagaagaa	7	8	1	3	rs2041109	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57802806C>T	ENST00000360338.3	+	3	1219	c.897C>T	c.(895-897)aaC>aaT	p.N299N	ZNF460_ENST00000537645.1_Silent_p.N258N	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCATAACAAGAGCCACA	0.468													c|||	923	0.184305	0.0908	0.3084	5008	,	,		22596	0.1657		0.2515	False		,,,				2504	0.1728				p.N299N		Atlas-SNP	.											.	ZNF460	59	.	0			c.C897T						PASS	.	C		494,3912	229.4+/-244.0	27,440,1736	95	85	89		897	-0.9	0	19	dbSNP_94	89	2199,6401	375.0+/-337.6	295,1609,2396	no	coding-synonymous	ZNF460	NM_006635.3		322,2049,4132	TT,TC,CC		25.5698,11.212,20.7058		299/563	57802806	2693,10313	2203	4300	6503	SO:0001819	synonymous_variant	10794	exon3			GCATAACAAGAGC	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.897C>T	19.37:g.57802806C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	89	37	0.41573	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																			C|0.799;T|0.201	0.201	strong		0.468	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		T	57802806	C	T	57802806	2	4	23	1	0	0	0	0	0	0	0	1	17921	477	17	2		2	ZNF460	19	57802806	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38036	57802806	1326177	4514	20970										
ZNF460	10794	hgsc.bcm.edu	37	chr19	57802824	57802824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aacaagagccacaatgagaaGaaacccttcgcatgcagcga	9	11	0	3	rs2041110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57802824G>A	ENST00000360338.3	+	3	1237	c.915G>A	c.(913-915)aaG>aaA	p.K305K	ZNF460_ENST00000537645.1_Silent_p.K264K	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAATGAGAAGAAACCCTTCG	0.463													a|||	933	0.186302	0.0983	0.3084	5008	,	,		23078	0.1657		0.2515	False		,,,				2504	0.1728				p.K305K		Atlas-SNP	.											.	ZNF460	59	.	0			c.G915A						PASS	.	A		534,3872	776.9+/-414.2	29,476,1698	100	89	93		915	-3	0	19	dbSNP_94	93	2197,6403	711.0+/-405.8	294,1609,2397	no	coding-synonymous	ZNF460	NM_006635.3		323,2085,4095	AA,AG,GG		25.5465,12.1198,20.998		305/563	57802824	2731,10275	2203	4300	6503	SO:0001819	synonymous_variant	10794	exon3			TGAGAAGAAACCC	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.915G>A	19.37:g.57802824G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	109	46	0.422018	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																			G|0.806;A|0.194	0.194	strong		0.463	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		A	57802824	G	A	57802824	2	1	23	1	0	0	0	0	0	0	0	1	17921	933	33	2		2	ZNF460	19	57802824	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18	57802824	1326159	4515	20971										
ZNF543	125919	hgsc.bcm.edu	37	chr19	57838018	57838018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caggctgtcctttgttcaaaCcagagctgatctaccagttg	9	11	2	2	rs6510057	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57838018C>G	ENST00000321545.4	+	3	508	c.163C>G	c.(163-165)Cca>Gca	p.P55A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		P -> A (in dbSNP:rs6510057). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTGTTCAAACCAGAGCTGAT	0.493													c|||	2264	0.452077	0.5439	0.5043	5008	,	,		16382	0.2798		0.5308	False		,,,				2504	0.3875				p.P55A		Atlas-SNP	.											.	ZNF543	61	.	0			c.C163G						PASS	.	C	ALA/PRO	2399,2007	615.4+/-392.6	649,1101,453	82	76	78		163	0.2	0.1	19	dbSNP_116	78	4776,3824	610.7+/-395.7	1348,2080,872	yes	missense	ZNF543	NM_213598.3	27	1997,3181,1325	GG,GC,CC		44.4651,45.5515,44.8332	benign	55/601	57838018	7175,5831	2203	4300	6503	SO:0001583	missense	125919	exon3			TTCAAACCAGAGC	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.163C>G	19.37:g.57838018C>G	ENSP00000322545:p.Pro55Ala	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	996	0.45604395604395603	246	0.5	177	0.4889502762430939	165	0.28846153846153844	408	0.5382585751978892	C	6.412	0.444210	0.12164	0.544485	0.555349	ENSG00000178229	ENST00000321545	T	0.00995	5.46	2.4	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	B	0.17465	0.022	B	0.14578	0.011	T	0.16100	-1.0414	8	0.51188	T	0.08	.	4.3985	0.11374	0.0:0.6549:0.0:0.3451	rs6510057;rs17373672;rs6510057	55	Q08ER8	ZN543_HUMAN	A	55	ENSP00000322545:P55A	ENSP00000322545:P55A	P	+	1	0	ZNF543	62529830	0.001000	0.12720	0.134000	0.22075	0.064000	0.16182	0.584000	0.23864	0.120000	0.18254	0.467000	0.42956	CCA	C|0.496;G|0.504	0.504	strong		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		G	57838018	C	G	57838018	3	3	23	1	0	0	0	0	1	0	0	0	17973	507	18	4	173	4	ZNF543	19	57838018	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	35194	57838018	1290965	4516	20972										
ZNF543	125919	hgsc.bcm.edu	37	chr19	57839150	57839150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaagtcttactccaggaacAactgacacaaggagcctcaa	9	11	2	1	rs8100491	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57839150A>G	ENST00000321545.4	+	4	665	c.320A>G	c.(319-321)cAa>cGa	p.Q107R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	107			Q -> R (in dbSNP:rs8100491). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCCAGGAACAACTGACACAA	0.478													g|||	3418	0.682508	0.7731	0.7133	5008	,	,		19133	0.5863		0.7197	False		,,,				2504	0.5992				p.Q107R		Atlas-SNP	.											ZNF543,NS,lymphoid_neoplasm,+1,2	ZNF543	61	2	0			c.A320G						PASS	.	G	ARG/GLN	3295,1111	397.6+/-330.5	1223,849,131	70	70	70		320	-5.7	0	19	dbSNP_116	70	6414,2186	373.7+/-337.1	2402,1610,288	yes	missense	ZNF543	NM_213598.3	43	3625,2459,419	GG,GA,AA		25.4186,25.2156,25.3498	benign	107/601	57839150	9709,3297	2203	4300	6503	SO:0001583	missense	125919	exon4			AGGAACAACTGAC	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.320A>G	19.37:g.57839150A>G	ENSP00000322545:p.Gln107Arg	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	136	136	1	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	1508	0.6904761904761905	356	0.7235772357723578	261	0.7209944751381215	338	0.5909090909090909	553	0.7295514511873351	G	0.536	-0.855603	0.02630	0.747844	0.745814	ENSG00000178229	ENST00000321545	T	0.23754	1.89	2.87	-5.73	0.02398	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.42565	-0.9444	8	0.02654	T	1	.	6.0897	0.19987	0.4665:0.0:0.4063:0.1272	rs8100491;rs57192148;rs8100491	107	Q08ER8	ZN543_HUMAN	R	107	ENSP00000322545:Q107R	ENSP00000322545:Q107R	Q	+	2	0	ZNF543	62530962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.431000	0.01023	-1.610000	0.01583	-2.030000	0.00424	CAA	A|0.278;G|0.722	0.722	strong		0.478	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		G	57839150	A	G	57839150	3	3	23	1	0	0	0	0	1	0	0	0	17973	130	5	2	334	2	ZNF543	19	57839150	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1132	57839150	1289833	4517	20973										
ZNF543	125919	hgsc.bcm.edu	37	chr19	57839567	57839567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactcatcttcttcagcaccTcatcatccacactggggaga	6	15	6	1	rs1968090	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57839567T>A	ENST00000321545.4	+	4	1082	c.737T>A	c.(736-738)cTc>cAc	p.L246H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	246			L -> H (in dbSNP:rs1968090). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTCAGCACCTCATCATCCAC	0.507													a|||	3414	0.681709	0.7716	0.7133	5008	,	,		21232	0.5843		0.7197	False		,,,				2504	0.5992				p.L246H		Atlas-SNP	.											.	ZNF543	61	.	0			c.T737A						PASS	.	A	HIS/LEU	3295,1111	397.0+/-330.2	1223,849,131	70	70	70		737	2.3	0.6	19	dbSNP_92	70	6414,2186	373.1+/-336.9	2402,1610,288	yes	missense	ZNF543	NM_213598.3	99	3625,2459,419	AA,AT,TT		25.4186,25.2156,25.3498	benign	246/601	57839567	9709,3297	2203	4300	6503	SO:0001583	missense	125919	exon4			AGCACCTCATCAT	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.737T>A	19.37:g.57839567T>A	ENSP00000322545:p.Leu246His	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	95	94	0.989474	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	1508	0.6904761904761905	356	0.7235772357723578	261	0.7209944751381215	338	0.5909090909090909	553	0.7295514511873351	A	0.092	-1.165669	0.01673	0.747844	0.745814	ENSG00000178229	ENST00000321545	T	0.22336	1.96	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.73319	2.225	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	8	0.31617	T	0.26	.	7.18	0.25768	0.7995:0.0:0.0:0.2005	rs1968090;rs16987824;rs52796659;rs1968090	246	Q08ER8	ZN543_HUMAN	H	246	ENSP00000322545:L246H	ENSP00000322545:L246H	L	+	2	0	ZNF543	62531379	0.000000	0.05858	0.576000	0.28549	0.816000	0.46133	-0.576000	0.05854	0.328000	0.23435	-0.364000	0.07487	CTC	T|0.268;A|0.732	0.732	strong		0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		A	57839567	T	A	57839567	3	1	23	1	0	0	0	0	1	0	0	0	17973	1551	54	5	751	5	ZNF543	19	57839567	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	417	57839567	1289416	4518	20974										
ZNF543	125919	hgsc.bcm.edu	37	chr19	57840547	57840547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagatgtgggaagaccttttAtgactgcacagacttcagtc	10	9	1	4	rs10410649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57840547A>G	ENST00000321545.4	+	4	2062	c.1717A>G	c.(1717-1719)Atg>Gtg	p.M573V		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	573			M -> V (in dbSNP:rs10410649).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGACCTTTTATGACTGCACA	0.413													A|||	989	0.197484	0.3169	0.1816	5008	,	,		20065	0.0317		0.2843	False		,,,				2504	0.1288				p.M573V		Atlas-SNP	.											.	ZNF543	61	.	0			c.A1717G						PASS	.	A	VAL/MET	1351,3055	450.6+/-349.4	200,951,1052	87	81	84		1717	-2.8	0	19	dbSNP_119	84	2352,6248	393.0+/-344.2	323,1706,2271	yes	missense	ZNF543	NM_213598.3	21	523,2657,3323	GG,GA,AA		27.3488,30.6627,28.4715	benign	573/601	57840547	3703,9303	2203	4300	6503	SO:0001583	missense	125919	exon4			CCTTTTATGACTG	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1717A>G	19.37:g.57840547A>G	ENSP00000322545:p.Met573Val	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	146	73	0.5	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	466	0.21336996336996336	152	0.3089430894308943	79	0.21823204419889503	18	0.03146853146853147	217	0.2862796833773087	A	4.434	0.080299	0.08533	0.306627	0.273488	ENSG00000178229	ENST00000321545	T	0.05513	3.43	2.45	-2.81	0.05805	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47573	-0.9107	8	0.52906	T	0.07	.	5.4467	0.16539	0.323:0.4652:0.2119:0.0	rs10410649;rs52820047;rs10410649	573	Q08ER8	ZN543_HUMAN	V	573	ENSP00000322545:M573V	ENSP00000322545:M573V	M	+	1	0	ZNF543	62532359	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.653000	0.05360	-0.852000	0.04141	0.379000	0.24179	ATG	A|0.737;G|0.263	0.263	strong		0.413	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		G	57840547	A	G	57840547	3	3	23	1	0	0	0	0	1	0	0	0	17973	449	16	2	1731	2	ZNF543	19	57840547	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	980	57840547	1288436	4519	20975										
ZNF17	7565	hgsc.bcm.edu	37	chr19	57931553	57931553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaattgtttaggtacaactcCgaccttattaaacatcagcg	6	9	1	0	rs10417533	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57931553C>T	ENST00000601808.1	+	3	906	c.693C>T	c.(691-693)tcC>tcT	p.S231S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Silent_p.S233S	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	231					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)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGTACAACTCCGACCTTATTA	0.413													C|||	1133	0.226238	0.3449	0.2176	5008	,	,		23816	0.0794		0.2694	False		,,,				2504	0.1789				p.S231S	Melanoma(149;1637 1853 29914 42869 44988)	Atlas-SNP	.											.	ZNF17	49	.	0			c.C693T						PASS	.	C		1306,3092	411.3+/-335.7	195,916,1088	87	89	89		693	-3.5	0	19	dbSNP_119	89	2171,6427	363.7+/-333.3	274,1623,2402	no	coding-synonymous	ZNF17	NM_006959.2		469,2539,3490	TT,TC,CC		25.2501,29.6953,26.7544		231/663	57931553	3477,9519	2199	4299	6498	SO:0001819	synonymous_variant	7565	exon3			CAACTCCGACCTT	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.693C>T	19.37:g.57931553C>T		Somatic	182	1	0.00549451		WXS	Illumina HiSeq	Phase_I	157	157	1	NM_006959	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	CCDS42636.1																																																																																			C|0.772;T|0.228	0.228	strong		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		T	57931553	C	T	57931553	2	4	23	1	0	0	0	0	0	0	0	1	17740	639	23	1		1	ZNF17	19	57931553	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	91006	57931553	1197430	4520	20976										
VN1R1	57191	hgsc.bcm.edu	37	chr19	57967049	57967049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgatggtgtgtgtggctctgGcttcctgggaaggtctgcag	17	7	2	1	rs61744949	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57967049G>T	ENST00000321039.3	-	1	805	c.806C>A	c.(805-807)gCc>gAc	p.A269D	AC004076.9_ENST00000596831.1_Missense_Mutation_p.P107T|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	269			A -> D (in allele VN1R1*3; dbSNP:rs61744949). {ECO:0000269|PubMed:10973240, ECO:0000269|PubMed:12826614}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGTGGCTCTGGCTTCCTGGGA	0.488													G|||	2070	0.413339	0.3109	0.451	5008	,	,		18776	0.5913		0.2783	False		,,,				2504	0.4806				p.A269D		Atlas-SNP	.											.	VN1R1	48	.	0			c.C806A						PASS	.	G	ASP/ALA	1342,3064	450.2+/-349.3	188,966,1049	126	88	101		806	-0.9	0	19	dbSNP_129	101	2454,6146	404.0+/-348.0	330,1794,2176	yes	missense	VN1R1	NM_020633.3	126	518,2760,3225	TT,TG,GG		28.5349,30.4585,29.1865	possibly-damaging	269/354	57967049	3796,9210	2203	4300	6503	SO:0001583	missense	57191	exon1			GCTCTGGCTTCCT	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.806C>A	19.37:g.57967049G>T	ENSP00000322339:p.Ala269Asp	Somatic	415	0	0		WXS	Illumina HiSeq	Phase_I	321	142	0.442368	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	877	0.4015567765567766	149	0.30284552845528456	135	0.3729281767955801	368	0.6433566433566433	225	0.29683377308707126	G	10.04	1.242857	0.22796	0.304585	0.285349	ENSG00000178201	ENST00000321039	T	0.09255	3.0	4.17	-0.913	0.10500	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.25060	0.705	0.80722	P	0.0	B	0.25609	0.13	B	0.31016	0.123	T	0.24621	-1.0155	8	0.56958	D	0.05	.	4.0826	0.09932	0.3162:0.3379:0.3459:0.0	rs61744949	269	Q9GZP7	VN1R1_HUMAN	D	269	ENSP00000322339:A269D	ENSP00000322339:A269D	A	-	2	0	VN1R1	62658861	0.996000	0.38824	0.000000	0.03702	0.015000	0.08874	0.517000	0.22832	-0.140000	0.11394	0.650000	0.86243	GCC	G|0.675;T|0.325	0.325	strong		0.488	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		T	57967049	G	T	57967049	3	4	23	1	0	0	0	0	1	0	0	0	17175	1203	42	4	259	4	VN1R1	19	57967049	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	35496	57967049	1161934	4521	20977										
VN1R1	57191	hgsc.bcm.edu	37	chr19	57967133	57967133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtagaggaagaagaccatgGagccactggcccagaccatg	13	10	0	4	rs28649880	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57967133G>A	ENST00000321039.3	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	241			S -> F (in allele VN1R1*3; dbSNP:rs28649880). {ECO:0000269|PubMed:10973240, ECO:0000269|PubMed:12826614}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAAGACCATGGAGCCACTGGC	0.468													G|||	2073	0.413938	0.3124	0.451	5008	,	,		19142	0.5913		0.2793	False		,,,				2504	0.4806				p.S241F		Atlas-SNP	.											VN1R1,NS,adenoma,0,1	VN1R1	48	1	0			c.C722T						PASS	.	G	PHE/SER	1344,3062	450.6+/-349.4	189,966,1048	112	87	95		722	0.4	0	19	dbSNP_125	95	2453,6147	403.9+/-348.0	330,1793,2177	yes	missense	VN1R1	NM_020633.3	155	519,2759,3225	AA,AG,GG		28.5233,30.5039,29.1942	probably-damaging	241/354	57967133	3797,9209	2203	4300	6503	SO:0001583	missense	57191	exon1			ACCATGGAGCCAC	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.722C>T	19.37:g.57967133G>A	ENSP00000322339:p.Ser241Phe	Somatic	274	1	0.00364964		WXS	Illumina HiSeq	Phase_I	239	109	0.456067	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	878	0.40201465201465203	149	0.30284552845528456	135	0.3729281767955801	368	0.6433566433566433	226	0.29815303430079154	G	11.87	1.766615	0.31228	0.305039	0.285233	ENSG00000178201	ENST00000321039	T	0.08370	3.1	4.11	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	L	0.48877	1.53	0.80722	P	0.0	P	0.45283	0.855	P	0.47573	0.55	T	0.30179	-0.9987	8	0.08599	T	0.76	.	2.0499	0.03568	0.1073:0.1653:0.4256:0.3017	rs28649880	241	Q9GZP7	VN1R1_HUMAN	F	241	ENSP00000322339:S241F	ENSP00000322339:S241F	S	-	2	0	VN1R1	62658945	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.546000	0.06062	0.461000	0.27071	0.603000	0.83216	TCC	G|0.674;A|0.326	0.326	strong		0.468	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		A	57967133	G	A	57967133	3	1	23	1	0	0	0	0	1	0	0	0	17175	1174	41	2	343	2	VN1R1	19	57967133	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	84	57967133	1161850	4522	20978										
ZNF772	400720	hgsc.bcm.edu	37	chr19	57984918	57984918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccttgctccagtatgaacActccaatgtttaatgagtct	8	10	1	2	rs2074058	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:57984918A>G	ENST00000343280.4	-	5	1454	c.1194T>C	c.(1192-1194)agT>agC	p.S398S	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Silent_p.S286S|ZNF772_ENST00000356584.3_Silent_p.S357S|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CAGTATGAACACTCCAATGTT	0.413													A|||	2073	0.413938	0.3154	0.4524	5008	,	,		22319	0.5893		0.2783	False		,,,				2504	0.4785				p.S398S	Melanoma(5;289 436 14293 15924 30817)	Atlas-SNP	.											.	ZNF772	42	.	0			c.T1194C						PASS	.	A	,	1364,3042	454.2+/-350.6	198,968,1037	132	121	125		1194,1071	-1.1	1	19	dbSNP_96	125	2446,6154	402.6+/-347.5	329,1788,2183	no	coding-synonymous,coding-synonymous	ZNF772	NM_001024596.2,NM_001144068.1	,	527,2756,3220	GG,GA,AA		28.4419,30.9578,29.2942	,	398/490,357/449	57984918	3810,9196	2203	4300	6503	SO:0001819	synonymous_variant	400720	exon5			ATGAACACTCCAA	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1194T>C	19.37:g.57984918A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	106	62	0.584906	NM_001024596	A6NJK9|B4DH56|B4DYS0	Silent	SNP	ENST00000343280.4	37	CCDS33133.1																																																																																			A|0.659;G|0.341	0.341	strong		0.413	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		G	57984918	A	G	57984918	2	3	23	1	0	0	0	0	0	0	0	1	18142	156	6	2		2	ZNF772	19	57984918	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	17785	57984918	1144065	4523	20979										
ZNF135	7694	hgsc.bcm.edu	37	chr19	58572959	58572959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtttcaggagcaagtgacGtttgaggacgtggtagtggg	17	4	1	2	rs2288274	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:58572959G>A	ENST00000313434.5	+	3	146	c.45G>A	c.(43-45)acG>acA	p.T15T	ZNF135_ENST00000439855.2_Silent_p.T15T|ZNF135_ENST00000511556.1_Silent_p.T15T|ZNF135_ENST00000401053.4_Silent_p.T27T|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Silent_p.T27T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCAAGTGACGTTTGAGGACG	0.602													G|||	1351	0.269768	0.2859	0.2277	5008	,	,		18117	0.2649		0.2992	False		,,,				2504	0.2526				p.T27T		Atlas-SNP	.											ZNF135_ENST00000401053,colon,carcinoma,+1,3	ZNF135	159	3	0			c.G81A						PASS	.	G	,,,,	1289,3117	438.0+/-345.2	185,919,1099	133	117	122		81,81,81,45,81	-1	0.9	19	dbSNP_100	122	2345,6255	392.4+/-344.0	308,1729,2263	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF135	NM_001164527.1,NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,,	493,2648,3362	AA,AG,GG		27.2674,29.2556,27.941	,,,,	27/124,27/116,27/391,15/671,27/683	58572959	3634,9372	2203	4300	6503	SO:0001819	synonymous_variant	7694	exon2			AGTGACGTTTGAG	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.45G>A	19.37:g.58572959G>A		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	245	106	0.432653	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37		625	0.28617216117216115	158	0.32113821138211385	80	0.22099447513812154	158	0.2762237762237762	229	0.3021108179419525	G	7.475	0.647440	0.14516	0.292556	0.272674	ENSG00000176293	ENST00000391699	.	.	.	2.52	-1.02	0.10135	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999899716	.	.	.	.	.	.	T	0.42207	-0.9465	3	.	.	.	.	1.8703	0.03207	0.1896:0.2962:0.3818:0.1323	rs2288274;rs56480989;rs57809788;rs2288274	.	.	.	H	21	.	.	R	+	2	0	ZNF135	63264771	0.000000	0.05858	0.950000	0.38849	0.869000	0.49853	-2.496000	0.00970	-0.105000	0.12132	-1.339000	0.01253	CGT	G|0.716;A|0.284	0.284	strong		0.602	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		A	58572959	G	A	58572959	2	1	23	1	0	0	0	0	0	0	0	1	17722	1132	40	1		1	ZNF135	19	58572959	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	588041	58572959	556024	4524	20980										
ZNF497	162968	hgsc.bcm.edu	37	chr19	58868480	58868480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtggtggatgagctgcgaGtgcgcgcggaaggccttgcc	19	9	0	1	rs12609654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:58868480G>T	ENST00000311044.3	-	3	710	c.522C>A	c.(520-522)caC>caA	p.H174Q	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H174Q|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	174			H -> Q (in dbSNP:rs12609654). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGAGCTGCGAGTGCGCGCGGA	0.677													G|||	1917	0.382788	0.4856	0.3746	5008	,	,		15859	0.1825		0.4006	False		,,,				2504	0.4376				p.H174Q		Atlas-SNP	.											.	ZNF497	22	.	0			c.C522A						PASS	.	G	GLN/HIS,GLN/HIS	2210,2196	561.4+/-380.7	560,1090,553	31	25	27		522,522	-0.6	0	19	dbSNP_120	27	3902,4696	524.8+/-380.6	869,2164,1266	yes	missense,missense	ZNF497	NM_001207009.1,NM_198458.2	24,24	1429,3254,1819	TT,TG,GG		45.3826,49.8411,47.0009	benign,benign	174/499,174/499	58868480	6112,6892	2203	4299	6502	SO:0001583	missense	162968	exon2			CTGCGAGTGCGCG	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.522C>A	19.37:g.58868480G>T	ENSP00000311183:p.His174Gln	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	186	96	0.516129	NM_001207009	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	802	0.36721611721611724	236	0.4796747967479675	157	0.43370165745856354	108	0.1888111888111888	301	0.3970976253298153	G	13.05	2.120431	0.37436	0.501589	0.453826	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.35605	1.3;1.3	0.62	-0.577	0.11727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12569	0.235	0.80722	P	0.0	P	0.35107	0.484	B	0.22880	0.042	T	0.46911	-0.9157	8	0.44086	T	0.13	.	5.7584	0.18186	0.2752:0.0:0.7248:0.0	rs12609654;rs58652230;rs12609654	174	Q6ZNH5	ZN497_HUMAN	Q	174;174;19	ENSP00000311183:H174Q;ENSP00000402815:H174Q	ENSP00000311183:H174Q	H	-	3	2	ZNF497	63560292	0.000000	0.05858	0.004000	0.12327	0.420000	0.31355	-1.525000	0.02231	-0.298000	0.08921	0.205000	0.17691	CAC	G|0.561;T|0.439	0.439	strong		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		T	58868480	G	T	58868480	3	4	23	1	0	0	0	0	1	0	0	0	17943	1020	36	4	978	4	ZNF497	19	58868480	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	295521	58868480	260503	4525	20981										
ZBTB45	84878	hgsc.bcm.edu	37	chr19	59028407	59028407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctcatcgtcactttcctCgtcatcctcgtcacctcggt	7	16	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:59028407C>T	ENST00000594051.1	-	2	1114	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ZBTB45_ENST00000600990.1_Missense_Mutation_p.E212K|ZBTB45_ENST00000354590.3_Missense_Mutation_p.E212K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E212K(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCACTTTCCTCGTCATCCTCG	0.652											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E212K	NSCLC(164;1383 2017 5233 27540 46677)	Atlas-SNP	.											ZBTB45,NS,carcinoma,0,1	ZBTB45	37	1	1	Substitution - Missense(1)	endometrium(1)	c.G634A						scavenged	.						175	180	178					19																	59028407		2203	4300	6503	SO:0001583	missense	84878	exon2			TTTCCTCGTCATC	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.634G>A	19.37:g.59028407C>T	ENSP00000469089:p.Glu212Lys	Somatic	165	0	0	1035	WXS	Illumina HiSeq	Phase_I	178	2	0.011236	NM_032792		Missense_Mutation	SNP	ENST00000594051.1	37	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.374128	0.24857	.	.	ENSG00000119574	ENST00000354590	T	0.09073	3.02	3.23	3.23	0.37069	.	1.242270	0.06052	U	0.656755	T	0.05135	0.0137	N	0.08118	0	0.32825	D	0.503304	B	0.31519	0.327	B	0.19946	0.027	T	0.15350	-1.0440	10	0.27082	T	0.32	.	12.7123	0.57096	0.0:1.0:0.0:0.0	.	212	Q96K62	ZBT45_HUMAN	K	212	ENSP00000346603:E212K	ENSP00000346603:E212K	E	-	1	0	ZBTB45	63720219	0.046000	0.20272	0.400000	0.26346	0.030000	0.12068	1.067000	0.30616	2.122000	0.65172	0.467000	0.42956	GAG	.	.	none		0.652	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		T	59028407	C	T	59028407	3	4	23	1	0	0	0	0	1	0	0	0	17543	893	31	1	909	1	ZBTB45	19	59028407	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	159927	59028407	100576	4526	20982										
ZBTB45	84878	hgsc.bcm.edu	37	chr19	59028427	59028427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtcatcctcgtcacctcggTcatcaggggccgcggacagt	12	15	4	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr19:59028427T>C	ENST00000594051.1	-	2	1094	c.614A>G	c.(613-615)gAc>gGc	p.D205G	ZBTB45_ENST00000600990.1_Missense_Mutation_p.D205G|ZBTB45_ENST00000354590.3_Missense_Mutation_p.D205G			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCACCTCGGTCATCAGGGGC	0.672											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D205G	NSCLC(164;1383 2017 5233 27540 46677)	Atlas-SNP	.											ZBTB45,NS,carcinoma,0,1	ZBTB45	37	1	0			c.A614G						scavenged	.						129	135	133					19																	59028427		2203	4300	6503	SO:0001583	missense	84878	exon2			CCTCGGTCATCAG	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.614A>G	19.37:g.59028427T>C	ENSP00000469089:p.Asp205Gly	Somatic	180	1	0.00555556	1035	WXS	Illumina HiSeq	Phase_I	188	3	0.0159574	NM_032792		Missense_Mutation	SNP	ENST00000594051.1	37	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	t	15.37	2.813194	0.50527	.	.	ENSG00000119574	ENST00000354590	T	0.08458	3.09	3.23	3.23	0.37069	.	0.988962	0.08166	U	0.987761	T	0.12433	0.0302	N	0.19112	0.55	0.35723	D	0.817307	D	0.67145	0.996	P	0.62740	0.906	T	0.21245	-1.0251	10	0.11794	T	0.64	.	10.1253	0.42646	0.0:0.0:0.0:1.0	.	205	Q96K62	ZBT45_HUMAN	G	205	ENSP00000346603:D205G	ENSP00000346603:D205G	D	-	2	0	ZBTB45	63720239	0.857000	0.29778	0.019000	0.16419	0.283000	0.27025	1.572000	0.36461	1.723000	0.51488	0.383000	0.25322	GAC	.	.	none		0.672	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		C	59028427	T	C	59028427	3	2	23	1	0	0	0	0	1	0	0	0	17543	1667	58	2	929	2	ZBTB45	19	59028427	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	20	59028427	100556	4527	20983										
DEFB129	140881	hgsc.bcm.edu	37	chr20	210061	210061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaattgattaaaaactacctGcaatatggaacaccaaatgt	5	7	0	1	rs13045643	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:210061G>A	ENST00000246105.4	+	2	232	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	67					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.L67L(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAAACTACCTGCAATATGGAA	0.348													G|||	1353	0.270168	0.0333	0.3761	5008	,	,		22149	0.2857		0.3907	False		,,,				2504	0.3753				p.L67L		Atlas-SNP	.											DEFB129,NS,carcinoma,0,1	DEFB129	24	1	1	Substitution - coding silent(1)	stomach(1)	c.G201A						PASS	.	G		395,4011	198.7+/-222.5	15,365,1823	99	98	98		201	-4.3	0	20	dbSNP_121	98	3567,5033	518.7+/-379.3	737,2093,1470	yes	coding-synonymous	DEFB129	NM_080831.3		752,2458,3293	AA,AG,GG		41.4767,8.965,30.4629		67/184	210061	3962,9044	2203	4300	6503	SO:0001819	synonymous_variant	140881	exon2			CTACCTGCAATAT	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.201G>A	20.37:g.210061G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	39	0.493671	NM_080831	Q8NES7	Silent	SNP	ENST00000246105.4	37	CCDS12992.1																																																																																			G|0.710;A|0.289	0.289	strong		0.348	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		A	210061	G	A	210061	2	1	23	1	0	0	0	0	0	0	0	1	4415	1306	46	2		2	DEFB129	20	210061	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10		210061	62815459	4528	20984										
DEFB129	140881	hgsc.bcm.edu	37	chr20	210306	210306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacttctaccaagagtaacaCcaaagaaagcagagattctg	7	9	2	3	rs1053783	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:210306C>G	ENST00000246105.4	+	2	477	c.446C>G	c.(445-447)aCc>aGc	p.T149S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	149			T -> S (in dbSNP:rs1053783).		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAGTAACACCAAAGAAAGC	0.502													C|||	1248	0.249201	0.469	0.1196	5008	,	,		18729	0.2351		0.0915	False		,,,				2504	0.2209				p.T149S		Atlas-SNP	.											.	DEFB129	24	.	0			c.C446G						PASS	.	C	SER/THR	1840,2566	536.8+/-374.6	389,1062,752	136	123	127		446	2.3	0	20	dbSNP_86	127	774,7826	183.5+/-231.7	37,700,3563	yes	missense	DEFB129	NM_080831.3	58	426,1762,4315	GG,GC,CC		9.0,41.7612,20.0984	probably-damaging	149/184	210306	2614,10392	2203	4300	6503	SO:0001583	missense	140881	exon2			GTAACACCAAAGA	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.446C>G	20.37:g.210306C>G	ENSP00000246105:p.Thr149Ser	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	98	50	0.510204	NM_080831	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	459	0.21016483516483517	222	0.45121951219512196	43	0.11878453038674033	127	0.22202797202797203	67	0.08839050131926121	C	14.43	2.533782	0.45073	0.417612	0.09	ENSG00000125903	ENST00000246105	T	0.38401	1.14	4.25	2.27	0.28462	.	0.739381	0.12150	N	0.494997	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	P	0.41978	0.767	B	0.33196	0.159	T	0.48175	-0.9058	9	0.49607	T	0.09	-9.4267	6.8928	0.24238	0.0:0.7886:0.0:0.2114	rs1053783;rs3194381;rs52805850;rs59902862;rs1053783	149	Q9H1M3	DB129_HUMAN	S	149	ENSP00000246105:T149S	ENSP00000246105:T149S	T	+	2	0	DEFB129	158306	0.001000	0.12720	0.018000	0.16275	0.084000	0.17831	0.085000	0.14912	0.725000	0.32318	0.462000	0.41574	ACC	C|0.798;G|0.202	0.202	strong		0.502	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		G	210306	C	G	210306	3	3	23	1	0	0	0	0	1	0	0	0	4415	507	18	4	452	4	DEFB129	20	210306	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	245	210306	62815214	4529	20985										
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278806	278806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagcgcttatcctgcgctcCatcggcatggacccgagcga	13	14	0	0	rs1057189	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:278806C>T	ENST00000382352.3	+	1	1070	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	193							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCCTGCGCTCCATCGGCATGG	0.662													C|||	853	0.170327	0.0098	0.1383	5008	,	,		12987	0.3294		0.2694	False		,,,				2504	0.1442				p.S193S		Atlas-SNP	.											.	ZCCHC3	20	.	0			c.C579T						PASS	.	C		178,3688		4,170,1759	21	22	22		579	3	1	20	dbSNP_86	22	2318,5894		336,1646,2124	no	coding-synonymous	ZCCHC3	NM_033089.6		340,1816,3883	TT,TC,CC		28.227,4.6042,20.6657		193/405	278806	2496,9582	1933	4106	6039	SO:0001819	synonymous_variant	85364	exon1			GCGCTCCATCGGC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.579C>T	20.37:g.278806C>T		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	30	16	0.533333	NM_033089	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			C|0.780;T|0.220	0.220	strong		0.662	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			T	278806	C	T	278806	2	4	23	1	0	0	0	0	0	0	0	1	17586	581	21	2		2	ZCCHC3	20	278806	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	68500	278806	62746714	4530	20986										
SCRT2	85508	hgsc.bcm.edu	37	chr20	656181	656181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaaggggtggtaggtggggGccggcaccccgctgcactgg	19	12	0	0	rs76595598	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:656181G>A	ENST00000246104.6	-	1	642	c.65C>T	c.(64-66)gCc>gTc	p.A22V	RP5-850E9.3_ENST00000488788.2_Missense_Mutation_p.A22V	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	22					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GTAGGTGGGGGCCGGCACCCC	0.746													G|||	174	0.0347444	0.0219	0.036	5008	,	,		9468	0.001		0.0944	False		,,,				2504	0.0245				p.A22V		Atlas-SNP	.											SCRT2,NS,carcinoma,0,1	SCRT2	16	1	0			c.C65T						PASS	.	G	VAL/ALA	158,4136		5,148,1994	6	8	8		65	2.2	1	20	dbSNP_131	8	750,7640		32,686,3477	yes	missense	SCRT2	NM_033129.3	64	37,834,5471	AA,AG,GG		8.9392,3.6796,7.1586	possibly-damaging	22/308	656181	908,11776	2147	4195	6342	SO:0001583	missense	85508	exon1			GTGGGGGCCGGCA		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.65C>T	20.37:g.656181G>A	ENSP00000246104:p.Ala22Val	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	77	34	0.441558	NM_033129		Missense_Mutation	SNP	ENST00000246104.6	37	CCDS13006.1	106	0.048534798534798536	7	0.014227642276422764	16	0.04419889502762431	3	0.005244755244755245	80	0.10554089709762533	G	14.23	2.472889	0.43942	0.036796	0.089392	ENSG00000215397	ENST00000246104	T	0.09255	3.0	4.24	2.18	0.27775	.	0.425364	0.19905	U	0.103422	T	0.00178	0.0005	L	0.43152	1.355	0.38947	P	0.04172100000000001	B	0.28470	0.213	B	0.18871	0.023	T	0.23940	-1.0174	9	0.37606	T	0.19	-7.6146	6.9152	0.24355	0.0:0.1932:0.6071:0.1997	.	22	Q9NQ03	SCRT2_HUMAN	V	22	ENSP00000246104:A22V	ENSP00000246104:A22V	A	-	2	0	SCRT2	604181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.401000	0.44513	0.370000	0.24538	0.484000	0.47621	GCC	G|0.950;A|0.050	0.050	strong		0.746	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		A	656181	G	A	656181	3	1	23	1	0	0	0	0	1	0	0	0	13942	1203	42	2	866	2	SCRT2	20	656181	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	377375	656181	62369339	4531	20987										
FAM110A	83541	hgsc.bcm.edu	37	chr20	826334	826334	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagcccagcagctgaaggctAggcgccactgggcctggaat	15	12	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:826334A>G	ENST00000304189.2	+	3	1268	c.887A>G	c.(886-888)tAg>tGg	p.*296W	FAM110A_ENST00000246100.3_Nonstop_Mutation_p.*296W|FAM110A_ENST00000541082.1_Nonstop_Mutation_p.*296W|FAM110A_ENST00000381939.1_Nonstop_Mutation_p.*296W|FAM110A_ENST00000381941.3_Nonstop_Mutation_p.*296W			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	0						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.*296L(1)		breast(1)|lung(2)	3						GCTGAAGGCTAGGCGCCACTG	0.612																																					p.X296W		Atlas-SNP	.											FAM110A,NS,carcinoma,0,1	FAM110A	18	1	1	Nonstop extension(1)	lung(1)	c.A887G						scavenged	.						37	43	41					20																	826334		2203	4300	6503	SO:0001578	stop_lost	83541	exon2			AAGGCTAGGCGCC	BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"chromosome 20 open reading frame 55"	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.887A>G	20.37:g.826334A>G	ENSP00000354163:p.*296Trpext*84	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	87	3	0.0344828	NM_207121	D3DVW2|Q5R1M7	Missense_Mutation	SNP	ENST00000304189.2	37	CCDS13008.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.893304	0.33442	.	.	ENSG00000125898	ENST00000381941;ENST00000304189;ENST00000381939;ENST00000246100;ENST00000541082	.	.	.	4.5	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8654	0.13606	0.7359:0.0:0.0977:0.1664	.	.	.	.	W	296	.	.	X	+	2	0	FAM110A	774334	0.541000	0.26417	0.853000	0.33588	0.029000	0.11900	1.952000	0.40343	0.871000	0.35750	0.397000	0.26171	TAG	.	.	none		0.612	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424		G	826334	A	G	826334	4	3	23	1	0	0	0	0	0	0	0	0	5396	433	15	3	889	3	FAM110A	20	826334	Nonstop_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	170153	826334	62199186	4532	20988										
ANGPT4	51378	hgsc.bcm.edu	37	chr20	854940	854940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacctacctccagacatcacTtgggcacacttgcagagaca	7	15	1	2	rs944110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:854940T>C	ENST00000381922.3	-	8	1440	c.1338A>G	c.(1336-1338)caA>caG	p.Q446Q	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	446	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGACATCACTTGGGCACACT	0.612													C|||	2569	0.512979	0.5227	0.4337	5008	,	,		21990	0.6905		0.3191	False		,,,				2504	0.5726				p.Q446Q	Pancreas(181;481 2077 3259 31286 49856)	Atlas-SNP	.											ANGPT4,colon,carcinoma,0,2	ANGPT4	77	2	0			c.A1338G						PASS	.	C		2205,2201	588.4+/-386.9	537,1131,535	107	81	90		1338	4.2	1	20	dbSNP_86	90	2879,5721	672.1+/-402.9	491,1897,1912	no	coding-synonymous	ANGPT4	NM_015985.2		1028,3028,2447	CC,CT,TT		33.4767,49.9546,39.0897		446/504	854940	5084,7922	2203	4300	6503	SO:0001819	synonymous_variant	51378	exon8			CATCACTTGGGCA	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1338A>G	20.37:g.854940T>C		Somatic	288	1	0.00347222		WXS	Illumina HiSeq	Phase_I	269	132	0.490706	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			T|0.549;C|0.451	0.451	strong		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		C	854940	T	C	854940	2	2	23	1	0	0	0	0	0	0	0	1	612	1606	56	3		3	ANGPT4	20	854940	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	28606	854940	62170580	4533	20989										
PSMF1	9491	hgsc.bcm.edu	37	chr20	1108122	1108122	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgaacttggatgattatatCgatgcagaacacctgggtga	11	7	0	4	rs6514113	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1108122C>T	ENST00000335877.6	+	3	512	c.336C>T	c.(334-336)atC>atT	p.I112I	PSMF1_ENST00000246015.4_Silent_p.I112I|PSMF1_ENST00000438768.2_Silent_p.I112I|PSMF1_ENST00000333082.3_Silent_p.I112I|PSMF1_ENST00000381898.4_Silent_p.I24I	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	112	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ATGATTATATCGATGCAGAAC	0.433													C|||	470	0.0938498	0.1657	0.0793	5008	,	,		18898	0.0546		0.1243	False		,,,				2504	0.0164				p.I112I		Atlas-SNP	.											.	PSMF1	27	.	0			c.C336T						PASS	.	C	,	740,3666	304.4+/-288.4	65,610,1528	125	125	125		336,336	-1.8	1	20	dbSNP_116	125	913,7687	202.5+/-245.8	52,809,3439	no	coding-synonymous,coding-synonymous	PSMF1	NM_006814.3,NM_178578.2	,	117,1419,4967	TT,TC,CC		10.6163,16.7953,12.7095	,	112/272,112/272	1108122	1653,11353	2203	4300	6503	SO:0001819	synonymous_variant	9491	exon3			TTATATCGATGCA	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.336C>T	20.37:g.1108122C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	135	61	0.451852	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	CCDS13010.1																																																																																			C|0.885;T|0.115	0.115	strong		0.433	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		T	1108122	C	T	1108122	2	4	23	1	0	0	0	0	0	0	0	1	12710	874	31	1		1	PSMF1	20	1108122	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	253182	1108122	61917398	4534	20990										
PSMF1	9491	hgsc.bcm.edu	37	chr20	1115919	1115919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccactccggattcctccacAccacccacacaccagtcggc	5	22	0	0	rs2235587	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1115919A>G	ENST00000335877.6	+	4	697	c.521A>G	c.(520-522)cAc>cGc	p.H174R	PSMF1_ENST00000246015.4_Missense_Mutation_p.H174R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.H174R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.H86R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	174	Pro-rich.		H -> R (in dbSNP:rs2235587).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ATTCCTCCACACCACCCACAC	0.602													A|||	1010	0.201677	0.0121	0.2089	5008	,	,		16562	0.4841		0.1471	False		,,,				2504	0.2178				p.H174R		Atlas-SNP	.											.	PSMF1	27	.	0			c.A521G						PASS	.	A	ARG/HIS,ARG/HIS	149,4257	103.4+/-141.9	1,147,2055	62	57	59		521,521	2.9	0.8	20	dbSNP_98	59	1292,7308	257.5+/-281.5	92,1108,3100	yes	missense,missense	PSMF1	NM_006814.3,NM_178578.2	29,29	93,1255,5155	GG,GA,AA		15.0233,3.3818,11.0795	benign,benign	174/272,174/272	1115919	1441,11565	2203	4300	6503	SO:0001583	missense	9491	exon4			CTCCACACCACCC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.521A>G	20.37:g.1115919A>G	ENSP00000338039:p.His174Arg	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	107	46	0.429907	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	477	0.2184065934065934	6	0.012195121951219513	72	0.19889502762430938	281	0.49125874125874125	118	0.15567282321899736	A	0.042	-1.282104	0.01398	0.033818	0.150233	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.37584	1.73;1.19;1.8;1.73;1.73	5.22	2.91	0.33838	.	0.428883	0.22081	N	0.064884	T	0.00012	0.0000	N	0.00082	-2.215	0.39337	P	0.03448300000000004	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.44559	-0.9320	9	0.07813	T	0.8	-1.4721	5.6549	0.17637	0.5751:0.3398:0.0851:0.0	rs2235587;rs52829784;rs59036473;rs2235587	86;86;174;174	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	R	174;86;174;86;174;174	ENSP00000327704:H174R;ENSP00000371323:H86R;ENSP00000371324:H174R;ENSP00000246015:H174R;ENSP00000338039:H174R	ENSP00000246015:H174R	H	+	2	0	PSMF1	1063919	0.759000	0.28416	0.835000	0.33067	0.505000	0.33919	2.007000	0.40883	0.414000	0.25790	-0.321000	0.08615	CAC	A|0.849;G|0.151	0.151	strong		0.602	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		G	1115919	A	G	1115919	3	3	23	1	0	0	0	0	1	0	0	0	12710	159	6	2	535	2	PSMF1	20	1115919	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7797	1115919	61909601	4535	20991										
SDCBP2	27111	hgsc.bcm.edu	37	chr20	1293149	1293149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggtgacagtccgctggaaCggcctggcaggagggacagt	17	9	0	1	rs55648421	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1293149C>T	ENST00000360779.3	-	7	737	c.564G>A	c.(562-564)ccG>ccA	p.P188P	SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381812.1_Silent_p.P188P|SDCBP2_ENST00000381808.3_Silent_p.P103P|SDCBP2_ENST00000339987.3_Silent_p.P188P	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	188					intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TCCGCTGGAACGGCCTGGCAG	0.622													C|||	34	0.00678914	0.0008	0.0	5008	,	,		20948	0.0099		0.0169	False		,,,				2504	0.0061				p.P188P		Atlas-SNP	.											SDCBP2_ENST00000381812,NS,carcinoma,-1,3	SDCBP2	78	3	0			c.G564A						PASS	.	C	,,	1,4405	2.1+/-5.4	0,1,2202	83	69	74		564,309,564	-9.4	0.4	20	dbSNP_129	74	79,8521	46.3+/-105.2	1,77,4222	no	coding-synonymous,coding-synonymous,coding-synonymous	SDCBP2	NM_001199784.1,NM_015685.5,NM_080489.4	,,	1,78,6424	TT,TC,CC		0.9186,0.0227,0.6151	,,	188/293,103/208,188/293	1293149	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	27111	exon7			CTGGAACGGCCTG	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.564G>A	20.37:g.1293149C>T		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	111	51	0.459459	NM_080489	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Silent	SNP	ENST00000360779.3	37	CCDS42848.1																																																																																			C|0.993;T|0.007	0.007	strong		0.622	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489		T	1293149	C	T	1293149	2	4	23	1	0	0	0	0	0	0	0	1	13956	523	19	1		1	SDCBP2	20	1293149	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	177230	1293149	61732371	4536	20992										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895889	1895889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcagaggagctggaccagGccgggaattaatctacaatc	12	9	2	1	rs72620874	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1895889G>C	ENST00000358771.4	+	2	376	c.224G>C	c.(223-225)gGc>gCc	p.G75A	SIRPA_ENST00000356025.3_Missense_Mutation_p.G75A|SIRPA_ENST00000400068.3_Missense_Mutation_p.G75A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	75	Ig-like V-type.		G -> A (in dbSNP:rs1057114). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G75A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGGACCAGGCCGGGAATTA	0.537													G|||	2164	0.432109	0.298	0.4553	5008	,	,		14136	0.6369		0.3588	False		,,,				2504	0.4611				p.G75A	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,right_upper_lobe,carcinoma,+1,3	SIRPA	83	3	1	Substitution - Missense(1)	pancreas(1)	c.G224C						PASS	.						68	62	64					20																	1895889		2203	4297	6500	SO:0001583	missense	140885	exon3			GACCAGGCCGGGA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.224G>C	20.37:g.1895889G>C	ENSP00000351621:p.Gly75Ala	Somatic	377	0	0		WXS	Illumina HiSeq	Phase_I	207	24	0.115942	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	952	0.4358974358974359	153	0.31097560975609756	151	0.4171270718232044	373	0.6520979020979021	275	0.3627968337730871	G	8.882	0.951948	0.18431	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.66995	-0.24;-0.24;-0.24	5.11	-1.44	0.08856	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.281220	0.04967	N	0.463081	T	0.00012	0.0000	L	0.60957	1.885	0.80722	P	0.0	B;B;B	0.22851	0.0;0.076;0.001	B;B;B	0.26416	0.02;0.069;0.012	T	0.48514	-0.9029	9	0.37606	T	0.19	.	8.9336	0.35686	0.7056:0.0:0.2944:0.0	.	55;75;75	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	75	ENSP00000382941:G75A;ENSP00000348307:G75A;ENSP00000351621:G75A	ENSP00000348307:G75A	G	+	2	0	SIRPA	1843889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.791000	0.04599	-0.225000	0.09913	-0.266000	0.10368	GGC	G|0.689;C|0.311	0.311	strong		0.537	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1895889	G	C	1895889	3	2	23	1	0	0	0	0	1	0	0	0	14332	1203	42	4	230	4	SIRPA	20	1895889	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	602740	1895889	61129631	4537	20993										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895963	1895963	+	Missense_Mutation	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttcagacctcacaaagagaAacaacatggacttttccatc					rs373583167|rs386811662|rs17855613	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1895963A>G	ENST00000358771.4	+	2	450	c.298A>G	c.(298-300)Aac>Gac	p.N100D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CACAAAGAGAAACAACATGGA	0.522																																					p.N100D	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,-2,4	SIRPA	83	4	0			c.A298G						scavenged	.																																			SO:0001583	missense	140885	exon3			AAGAGAAACAACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.298A>G	20.37:g.1895963A>G	ENSP00000351621:p.Asn100Asp	Somatic	673	0	0		WXS	Illumina HiSeq	Phase_I	360	15	0.0416667	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430951	0.25726	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02236	4.38;4.38;4.38	5.11	-5.69	0.02428	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.03651	0.0104	L	0.55481	1.735	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.0	B;B;B	0.24701	0.004;0.055;0.007	T	0.41875	-0.9484	10	0.51188	T	0.08	.	10.2665	0.43457	0.2384:0.1377:0.6239:0.0	rs17855613	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	100	ENSP00000382941:N100D;ENSP00000348307:N100D;ENSP00000351621:N100D	ENSP00000348307:N100D	N	+	1	0	SIRPA	1843963	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.479000	0.02327	-1.294000	0.02360	-0.388000	0.06559	AAC	.	.	weak		0.522	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895963	A	G	1895963	3	3	23	1	0	0	0	0	1	0	0	0	14332	14	1	2	304	2	SIRPA	20	1895963	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	74	1895963	61129557	4538	20994	418	2								
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895965	1895965	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagacctcacaaagagaaaCaacatggacttttccatccg					rs17855614|rs373583167|rs386811662	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1895965C>A	ENST00000358771.4	+	2	452	c.300C>A	c.(298-300)aaC>aaA	p.N100K	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100K|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAAAGAGAAACAACATGGACT	0.517													C|||	480	0.0958466	0.0386	0.1095	5008	,	,		14804	0.1835		0.0537	False		,,,				2504	0.1166				p.N100K	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,0,4	SIRPA	83	4	0			c.C300A						scavenged	.																																			SO:0001583	missense	140885	exon3			GAGAAACAACATG	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.300C>A	20.37:g.1895965C>A	ENSP00000351621:p.Asn100Lys	Somatic	669	0	0		WXS	Illumina HiSeq	Phase_I	360	15	0.0416667	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533326	0.27387	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02158	4.42;4.42;4.42	5.11	0.771	0.18504	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.04634	0.0126	M	0.65975	2.015	0.09310	N	1	B;B;B	0.33299	0.003;0.407;0.039	B;B;B	0.31812	0.056;0.136;0.082	T	0.44345	-0.9334	10	0.72032	D	0.01	.	8.1767	0.31285	0.0:0.4423:0.4696:0.0881	rs17855614	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	K	100	ENSP00000382941:N100K;ENSP00000348307:N100K;ENSP00000351621:N100K	ENSP00000348307:N100K	N	+	3	2	SIRPA	1843965	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.328000	0.07945	0.028000	0.15324	-0.315000	0.08773	AAC	.	.	weak		0.517	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1895965	C	A	1895965	3	1	23	1	0	0	0	0	1	0	0	0	14332	477	17	4	306	4	SIRPA	20	1895965	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2	1895965	61129555	4539	20995	418	2								
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896059	1896059	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaagggagccccgatgacGtggagtttaagtctggagca					rs386811663|rs115287948	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1896059G>A	ENST00000358771.4	+	2	546	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V132M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V132M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	132	Ig-like V-type.		V -> T (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCCGATGACGTGGAGTTTAA	0.527													G|||	2050	0.409345	0.2761	0.4222	5008	,	,		15841	0.625		0.3171	False		,,,				2504	0.453				p.V132M	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,caecum,carcinoma,0,2	SIRPA	83	2	0			c.G394A						scavenged	.						108	93	98					20																	1896059		2198	4290	6488	SO:0001583	missense	140885	exon3			GATGACGTGGAGT	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.394G>A	20.37:g.1896059G>A	ENSP00000351621:p.Val132Met	Somatic	435	4	0.0091954		WXS	Illumina HiSeq	Phase_I	228	25	0.109649	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059262	0.19987	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.64991	-0.13;-0.13;-0.13	5.11	-2.28	0.06826	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.497550	0.01234	N	0.008420	T	0.49558	0.1564	L	0.28192	0.835	0.80722	P	0.0	B;B;B	0.27765	0.084;0.005;0.188	B;B;B	0.27887	0.057;0.01;0.084	T	0.39702	-0.9601	9	0.33141	T	0.24	.	9.8059	0.40792	0.7439:0.0:0.2561:0.0	.	112;132;132	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	132	ENSP00000382941:V132M;ENSP00000348307:V132M;ENSP00000351621:V132M	ENSP00000348307:V132M	V	+	1	0	SIRPA	1844059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.421000	0.07053	-0.198000	0.10333	-1.101000	0.02118	GTG	G|0.679;A|0.321	0.321	strong		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1896059	G	A	1896059	3	1	23	1	0	0	0	0	1	0	0	0	14332	1145	40	1	400	1	SIRPA	20	1896059	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	94	1896059	61129461	4540	20996	419	2								
SIRPA	140885	hgsc.bcm.edu	37	chr20	1896060	1896060	+	Missense_Mutation	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaagggagccccgatgacgTggagtttaagtctggagcag					rs114499682|rs386811663	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:1896060T>C	ENST00000358771.4	+	2	547	c.395T>C	c.(394-396)gTg>gCg	p.V132A	SIRPA_ENST00000356025.3_Missense_Mutation_p.V132A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V132A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	132	Ig-like V-type.		V -> T (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCGATGACGTGGAGTTTAAG	0.527													T|||	2050	0.409345	0.2761	0.4222	5008	,	,		15517	0.625		0.3171	False		,,,				2504	0.453				p.V132A	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,caecum,carcinoma,+1,2	SIRPA	83	2	0			c.T395C						scavenged	.						110	94	99					20																	1896060		2199	4290	6489	SO:0001583	missense	140885	exon3			ATGACGTGGAGTT	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.395T>C	20.37:g.1896060T>C	ENSP00000351621:p.Val132Ala	Somatic	434	1	0.00230415		WXS	Illumina HiSeq	Phase_I	224	26	0.116071	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858225	0.32791	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.63913	-0.07;-0.07;-0.07	5.11	-4.1	0.03940	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.497550	0.01234	N	0.008420	T	0.55257	0.1909	L	0.47190	1.495	0.09310	N	1	B;B;B	0.18741	0.028;0.011;0.03	B;B;B	0.33295	0.113;0.125;0.161	T	0.39165	-0.9627	10	0.33141	T	0.24	.	4.5618	0.12163	0.5656:0.1906:0.0:0.2438	.	112;132;132	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	132	ENSP00000382941:V132A;ENSP00000348307:V132A;ENSP00000351621:V132A	ENSP00000348307:V132A	V	+	2	0	SIRPA	1844060	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.908000	0.01587	-0.575000	0.05982	-0.530000	0.04314	GTG	T|0.684;C|0.317	0.317	strong		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1896060	T	C	1896060	3	2	23	1	0	0	0	0	1	0	0	0	14332	1696	59	2	401	2	SIRPA	20	1896060	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1	1896060	61129460	4541	20997	419	2								
FAM113A	64773	hgsc.bcm.edu	37	chr20	2816821	2816821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtggcgagggctgaggaagCgggtagggaaaaggcatggg	23	4	0	1	rs2274669	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:2816821C>T	ENST00000360652.2	-	7	1483	c.981G>A	c.(979-981)ccG>ccA	p.P327P	PCED1A_ENST00000356872.3_Silent_p.P276P	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	327																	gctgaggaagcgggtagggaa	0.607													C|||	1085	0.216653	0.0151	0.1499	5008	,	,		15550	0.3899		0.2306	False		,,,				2504	0.3436				p.P327P		Atlas-SNP	.											FAM113A,colon,carcinoma,0,1	.	.	1	0			c.G981A						scavenged	.	C		230,4176	135.3+/-171.4	10,210,1983	73	81	78		981	-7	0.2	20	dbSNP_100	78	1846,6754	329.0+/-318.6	208,1430,2662	no	coding-synonymous	FAM113A	NM_022760.3		218,1640,4645	TT,TC,CC		21.4651,5.2202,15.9619		327/455	2816821	2076,10930	2203	4300	6503	SO:0001819	synonymous_variant	64773	exon7			AGGAAGCGGGTAG	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.981G>A	20.37:g.2816821C>T		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	238	3	0.012605	NM_022760	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	CCDS13035.1																																																																																			C|0.833;G|0.000;T|0.167	0.167	strong		0.607	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		T	2816821	C	T	2816821	2	4	23	1	0	0	0	0	0	0	0	1	5401	755	27	1		1	FAM113A	20	2816821	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	920761	2816821	60208699	4542	20998										
ITPA	3704	hgsc.bcm.edu	37	chr20	3193978	3193978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgataagtgccggagtaccaGggggagccggatgagatttc	16	7	0	2	rs8362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:3193978G>A	ENST00000380113.3	+	3	330	c.138G>A	c.(136-138)caG>caA	p.Q46Q	ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_Intron|ITPA_ENST00000455664.2_Silent_p.Q29Q	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CGGAGTACCAGGGGGAGCCGG	0.483													G|||	2356	0.470447	0.4705	0.3055	5008	,	,		18388	0.6131		0.3022	False		,,,				2504	0.6135				p.Q46Q		Atlas-SNP	.											.	ITPA	16	.	0			c.G138A						PASS	.	G	,	2017,2389	561.6+/-380.8	466,1085,652	116	112	113		138,87	2	1	20	dbSNP_52	113	2404,6196	399.2+/-346.4	364,1676,2260	no	coding-synonymous,coding-synonymous	ITPA	NM_033453.2,NM_181493.1	,	830,2761,2912	AA,AG,GG		27.9535,45.7785,33.992	,	46/195,29/178	3193978	4421,8585	2203	4300	6503	SO:0001819	synonymous_variant	3704	exon3			GTACCAGGGGGAG	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.138G>A	20.37:g.3193978G>A		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	148	66	0.445946	NM_033453		Silent	SNP	ENST00000380113.3	37	CCDS13051.1																																																																																			G|0.607;A|0.393	0.393	strong		0.483	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			A	3193978	G	A	3193978	2	1	23	1	0	0	0	0	0	0	0	1	7915	991	35	2		2	ITPA	20	3193978	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	377157	3193978	59831542	4543	20999										
ITPA	3704	hgsc.bcm.edu	37	chr20	3204084	3204084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctgctggagctgcaggaGtactttggcagtttggcagc	15	10	0	0	rs9101	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:3204084G>A	ENST00000380113.3	+	8	753	c.561G>A	c.(559-561)gaG>gaA	p.E187E	ITPA_ENST00000399838.3_Silent_p.E146E|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Silent_p.E170E	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGCTGCAGGAGTACTTTGGCA	0.632													G|||	1705	0.340455	0.0832	0.2781	5008	,	,		18199	0.5089		0.3091	False		,,,				2504	0.591				p.E187E		Atlas-SNP	.											ITPA,NS,carcinoma,0,1	ITPA	16	1	0			c.G561A						PASS	.	G	,	495,3911	227.8+/-242.9	31,433,1739	50	40	43		561,510	-5.4	0.2	20	dbSNP_52	43	2458,6142	401.9+/-347.3	377,1704,2219	no	coding-synonymous,coding-synonymous	ITPA	NM_033453.2,NM_181493.1	,	408,2137,3958	AA,AG,GG		28.5814,11.2347,22.7049	,	187/195,170/178	3204084	2953,10053	2203	4300	6503	SO:0001819	synonymous_variant	3704	exon8			GCAGGAGTACTTT	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.561G>A	20.37:g.3204084G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_033453		Silent	SNP	ENST00000380113.3	37	CCDS13051.1																																																																																			G|0.729;A|0.271	0.271	strong		0.632	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			A	3204084	G	A	3204084	2	1	23	1	0	0	0	0	0	0	0	1	7915	1020	36	2		2	ITPA	20	3204084	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	10106	3204084	59821436	4544	21000										
SLC4A11	83959	hgsc.bcm.edu	37	chr20	3214895	3214895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaggacgatgctggcctgCgccaggaagccatctaggtc	13	12	2	0	rs34460295	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:3214895C>T	ENST00000380056.3	-	4	452	c.405G>A	c.(403-405)gcG>gcA	p.A135A	SLC4A11_ENST00000380059.3_Silent_p.A162A|SLC4A11_ENST00000539553.2_Silent_p.A119A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	135					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGCTGGCCTGCGCCAGGAAGC	0.612													C|||	117	0.0233626	0.0333	0.0086	5008	,	,		16337	0.0198		0.0249	False		,,,				2504	0.0225				p.A162A	NSCLC(190;922 2139 10266 10292 38692)	Atlas-SNP	.											.	SLC4A11	188	.	0			c.G486A						PASS	.	C	,,	181,4225	117.1+/-155.0	4,173,2026	118	107	111		357,486,405	-10.4	0.5	20	dbSNP_126	111	174,8426	79.8+/-142.4	2,170,4128	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	6,343,6154	TT,TC,CC		2.0233,4.108,2.7295	,,	119/876,162/919,135/892	3214895	355,12651	2203	4300	6503	SO:0001819	synonymous_variant	83959	exon5			GGCCTGCGCCAGG	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.405G>A	20.37:g.3214895C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			C|0.974;T|0.026	0.026	strong		0.612	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3214895	C	T	3214895	2	4	23	1	0	0	0	0	0	0	0	1	14652	755	27	1		1	SLC4A11	20	3214895	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	10811	3214895	59810625	4545	21001										
ATRN	8455	hgsc.bcm.edu	37	chr20	3564672	3564672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgtggactccaatgcctaCgtggcctccttcccttttgg	10	13	0	0	rs235540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:3564672C>T	ENST00000262919.5	+	17	2960	c.2892C>T	c.(2890-2892)taC>taT	p.Y964Y	ATRN_ENST00000446916.2_Silent_p.Y964Y	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	964	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCAATGCCTACGTGGCCTCCT	0.547													C|||	4129	0.824481	0.7088	0.8141	5008	,	,		20160	0.999		0.7187	False		,,,				2504	0.9172				p.Y964Y		Atlas-SNP	.											.	ATRN	118	.	0			c.C2892T						PASS	.	C	,,	3169,1237	705.0+/-407.2	1134,901,168	384	310	335		2544,2892,2892	-3	1	20	dbSNP_79	335	6339,2261	708.0+/-405.6	2324,1691,285	no	coding-synonymous,coding-synonymous,coding-synonymous	ATRN	NM_001207047.1,NM_139321.2,NM_139322.2	,,	3458,2592,453	TT,TC,CC		26.2907,28.0754,26.8953	,,	848/1157,964/1430,964/1273	3564672	9508,3498	2203	4300	6503	SO:0001819	synonymous_variant	8455	exon17			TGCCTACGTGGCC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2892C>T	20.37:g.3564672C>T		Somatic	223	1	0.00448431		WXS	Illumina HiSeq	Phase_I	235	134	0.570213	NM_139321	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	CCDS13053.1																																																																																			C|0.239;T|0.761	0.761	strong		0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		T	3564672	C	T	3564672	2	4	23	1	0	0	0	0	0	0	0	1	1206	547	19	1		1	ATRN	20	3564672	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	349777	3564672	59460848	4546	21002										
ATRN	8455	hgsc.bcm.edu	37	chr20	3624830	3624830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaacccattgcactggagccGtgttttggcaacaaagccgc	10	12	0	0	rs2246808	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:3624830G>A	ENST00000262919.5	+	28	4148	c.4080G>A	c.(4078-4080)ccG>ccA	p.P1360P		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1360					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CACTGGAGCCGTGTTTTGGCA	0.502													g|||	1916	0.382588	0.5855	0.3718	5008	,	,		20619	0.1964		0.3917	False		,,,				2504	0.2986				p.P1360P		Atlas-SNP	.											.	ATRN	118	.	0			c.G4080A						PASS	.	A		2357,2049	609.6+/-391.4	643,1071,489	136	116	123		4080	-10.2	0.4	20	dbSNP_100	123	3494,5106	511.4+/-377.7	735,2024,1541	no	coding-synonymous	ATRN	NM_139321.2		1378,3095,2030	AA,AG,GG		40.6279,46.5048,44.9869		1360/1430	3624830	5851,7155	2203	4300	6503	SO:0001819	synonymous_variant	8455	exon28			GGAGCCGTGTTTT	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4080G>A	20.37:g.3624830G>A		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	192	86	0.447917	NM_139321	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	CCDS13053.1																																																																																			G|0.577;A|0.423	0.423	strong		0.502	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		A	3624830	G	A	3624830	2	1	23	1	0	0	0	0	0	0	0	1	1206	1132	40	1		1	ATRN	20	3624830	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60158	3624830	59400690	4547	21003										
PRND	23627	hgsc.bcm.edu	37	chr20	4705718	4705718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctggctttgatctggctcaCggtgaaataagcttgccagg	12	9	3	2	rs2245220	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:4705718C>T	ENST00000305817.2	+	2	592	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	174			T -> M (common polymorphism; dbSNP:rs2245220). {ECO:0000269|PubMed:10525406, ECO:0000269|PubMed:10825657, ECO:0000269|PubMed:11702213, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						ATCTGGCTCACGGTGAAATAA	0.577													T|||	2480	0.495208	0.6702	0.3646	5008	,	,		19250	0.253		0.4871	False		,,,				2504	0.6094				p.T174M		Atlas-SNP	.											PRND,caecum,carcinoma,0,1	PRND	34	1	0			c.C521T	GRCh37	CM014824	PRND	M	rs2245220	PASS	.	T	MET/THR	2798,1608		897,1004,302	22	21	21		521	2.2	0	20	dbSNP_100	21	4200,4392		1030,2140,1126	yes	missense	PRND	NM_012409.2	81	1927,3144,1428	TT,TC,CC		48.8827,36.4957,46.1609	benign	174/177	4705718	6998,6000	2203	4296	6499	SO:0001583	missense	23627	exon2			GGCTCACGGTGAA	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.521C>T	20.37:g.4705718C>T	ENSP00000306900:p.Thr174Met	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	73	31	0.424658	NM_012409	A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	CCDS13081.1	1004	0.4597069597069597	345	0.7012195121951219	140	0.3867403314917127	151	0.263986013986014	368	0.48548812664907653	T	8.922	0.961269	0.18583	0.635043	0.488827	ENSG00000171864	ENST00000305817	D	0.88664	-2.41	4.7	2.23	0.28157	Prion/Doppel protein, beta-ribbon domain (1);	0.787074	0.11050	N	0.605177	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	9	0.38643	T	0.18	-13.5917	3.7704	0.08639	0.0:0.2044:0.1882:0.6074	rs2245220;rs17736407;rs17846360;rs17859396;rs52805311;rs61599564;rs2245220	174	Q9UKY0	PRND_HUMAN	M	174	ENSP00000306900:T174M	ENSP00000306900:T174M	T	+	2	0	PRND	4653718	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.864000	0.27926	0.253000	0.21552	-0.381000	0.06696	ACG	C|0.492;T|0.508	0.508	strong		0.577	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		T	4705718	C	T	4705718	3	4	23	1	0	0	0	0	1	0	0	0	12543	536	19	1	523	1	PRND	20	4705718	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1080888	4705718	58319802	4548	21004										
SLC23A2	9962	hgsc.bcm.edu	37	chr20	4880308	4880308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taccccacacacatggcatcGgccaacaggaagggcactgc	10	15	0	0	rs1776964	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:4880308G>A	ENST00000379333.1	-	6	767	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.A125A|SLC23A2_ENST00000338244.1_Silent_p.A125A	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	125					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATGGCATCGGCCAACAGGA	0.532													G|||	2256	0.450479	0.3638	0.4236	5008	,	,		19147	0.5446		0.4622	False		,,,				2504	0.4775				p.A125A		Atlas-SNP	.											.	SLC23A2	62	.	0			c.C375T						PASS	.	G	,	1723,2683	519.1+/-369.9	334,1055,814	163	140	148		375,375	-10.2	0	20	dbSNP_89	148	3934,4666	548.9+/-385.4	890,2154,1256	no	coding-synonymous,coding-synonymous	SLC23A2	NM_005116.5,NM_203327.1	,	1224,3209,2070	AA,AG,GG		45.7442,39.1058,43.4953	,	125/651,125/651	4880308	5657,7349	2203	4300	6503	SO:0001819	synonymous_variant	9962	exon6			GGCATCGGCCAAC	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.375C>T	20.37:g.4880308G>A		Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	104	104	1	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	CCDS13085.1																																																																																			G|0.545;A|0.455	0.455	strong		0.532	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			A	4880308	G	A	4880308	2	1	23	1	0	0	0	0	0	0	0	1	14463	1103	39	1		1	SLC23A2	20	4880308	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	174590	4880308	58145212	4549	21005										
MCM8	84515	hgsc.bcm.edu	37	chr20	5933108	5933108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctttcaacaaagaccccaCagtcaatgcagtcaacattg	6	12	3	1	rs236110	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:5933108C>A	ENST00000378896.3	+	3	564	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.Q63K|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000203001.2_5'Flank|MCM8_ENST00000378883.1_Missense_Mutation_p.Q63K|MCM8_ENST00000265187.4_Missense_Mutation_p.Q63K	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	63			Q -> K (in dbSNP:rs236110).		cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AAAGACCCCACAGTCAATGCA	0.348													C|||	1309	0.261382	0.503	0.1643	5008	,	,		18160	0.1726		0.1143	False		,,,				2504	0.2464				p.Q63K		Atlas-SNP	.											.	MCM8	125	.	0			c.C187A						PASS	.	C	LYS/GLN,LYS/GLN	1955,2451	552.1+/-378.4	420,1115,668	107	124	118		187,187	0.2	0.4	20	dbSNP_79	118	1014,7586	215.7+/-255.0	54,906,3340	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	53,53	474,2021,4008	AA,AC,CC		11.7907,44.3713,22.8279	benign,benign	63/841,63/825	5933108	2969,10037	2203	4300	6503	SO:0001583	missense	84515	exon3			ACCCCACAGTCAA	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.187C>A	20.37:g.5933108C>A	ENSP00000368174:p.Gln63Lys	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	223	110	0.493274	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	503	0.2303113553113553	259	0.5264227642276422	51	0.1408839779005525	98	0.17132867132867133	95	0.12532981530343007	C	7.402	0.633016	0.14322	0.443713	0.117907	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	0.235	0.235	0.15431	.	0.363100	0.25997	N	0.026972	T	0.00012	0.0000	N	0.22421	0.69	0.42593	P	0.00674600000000003	B;B;B;B	0.25486	0.038;0.127;0.012;0.01	B;B;B;B	0.23275	0.012;0.045;0.002;0.001	T	0.44360	-0.9333	8	0.06494	T	0.89	.	.	.	.	rs236110;rs52832932;rs59009216;rs236110	63;63;63;63	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	K	63	ENSP00000368174:Q63K;ENSP00000368161:Q63K;ENSP00000368164:Q63K;ENSP00000265187:Q63K	ENSP00000265187:Q63K	Q	+	1	0	MCM8	5881108	0.505000	0.26131	0.430000	0.26722	0.422000	0.31414	0.356000	0.20181	0.308000	0.22923	0.313000	0.20887	CAG	C|0.763;A|0.237	0.237	strong		0.348	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		A	5933108	C	A	5933108	3	1	23	1	0	0	0	0	1	0	0	0	9393	479	17	4	193	4	MCM8	20	5933108	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1052800	5933108	57092412	4550	21006										
FERMT1	55612	hgsc.bcm.edu	37	chr20	6078246	6078246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaatggcccacctggcttgCtcatagagttggtttattcg	11	9	1	2	rs149893089		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:6078246C>T	ENST00000217289.4	-	7	1670	c.882G>A	c.(880-882)gaG>gaA	p.E294E	FERMT1_ENST00000536936.1_Silent_p.E37E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	294	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACCTGGCTTGCTCATAGAGTT	0.393													T|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.0		0.0	False		,,,				2504	0.001				p.E294E		Atlas-SNP	.											.	FERMT1	106	.	0			c.G882A						PASS	.	T		1,4405	826.1+/-416.6	0,1,2202	143	135	138		882	0.8	1	20	dbSNP_134	138	5,8595	819.0+/-406.8	0,5,4295	no	coding-synonymous	FERMT1	NM_017671.4		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		294/678	6078246	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	55612	exon7			GGCTTGCTCATAG	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.882G>A	20.37:g.6078246C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	157	74	0.471338	NM_017671	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	CCDS13098.1																																																																																			C|0.999;T|0.001	0.001	strong		0.393	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		T	6078246	C	T	6078246	2	4	23	1	0	0	0	0	0	0	0	1	5817	796	28	2		2	FERMT1	20	6078246	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	145138	6078246	56947274	4551	21007										
BMP2	650	hgsc.bcm.edu	37	chr20	6759595	6759595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attgttcagacgttggtcaaCtctgttaactctaagattcc	7	9	4	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:6759595C>T	ENST00000378827.4	+	3	2269	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	350					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CGTTGGTCAACTCTGTTAACT	0.468																																					p.N350N		Atlas-SNP	.											BMP2,NS,carcinoma,0,1	BMP2	45	1	0			c.C1050T						scavenged	.						129	101	111					20																	6759595		2203	4300	6503	SO:0001819	synonymous_variant	650	exon3			GGTCAACTCTGTT		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.1050C>T	20.37:g.6759595C>T		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	174	3	0.0172414	NM_001200		Silent	SNP	ENST00000378827.4	37	CCDS13099.1																																																																																			.	.	none		0.468	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			T	6759595	C	T	6759595	2	4	23	1	0	0	0	0	0	0	0	1	1459	564	20	2		2	BMP2	20	6759595	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	681349	6759595	56265925	4552	21008										
BMP2	650	hgsc.bcm.edu	37	chr20	6759706	6759706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtattaaagaactatcaggaCatggttgtggagggttgtgg	15	3	1	1	rs13037675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:6759706C>T	ENST00000378827.4	+	3	2380	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	387			D -> G (in dbSNP:rs11545591).		activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						ACTATCAGGACATGGTTGTGG	0.348													C|||	226	0.0451278	0.0386	0.1225	5008	,	,		12726	0.0		0.0706	False		,,,				2504	0.0194				p.D387D		Atlas-SNP	.											.	BMP2	45	.	0			c.C1161T						PASS	.	C		215,4191	131.0+/-167.6	7,201,1995	67	65	65		1161	4.6	1	20	dbSNP_121	65	577,8023	154.0+/-208.3	19,539,3742	no	coding-synonymous	BMP2	NM_001200.2		26,740,5737	TT,TC,CC		6.7093,4.8797,6.0895		387/397	6759706	792,12214	2203	4300	6503	SO:0001819	synonymous_variant	650	exon3			TCAGGACATGGTT		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.1161C>T	20.37:g.6759706C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	64	31	0.484375	NM_001200		Silent	SNP	ENST00000378827.4	37	CCDS13099.1																																																																																			C|0.943;T|0.057	0.057	strong		0.348	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			T	6759706	C	T	6759706	2	4	23	1	0	0	0	0	0	0	0	1	1459	477	17	2		2	BMP2	20	6759706	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111	6759706	56265814	4553	21009										
PAK7	57144	hgsc.bcm.edu	37	chr20	9523244	9523244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttctcaccttgtgtaggtCcttcactcttggaggtaaac	9	10	3	0	rs150828790	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:9523244C>T	ENST00000378429.3	-	10	2539	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	PAK7_ENST00000378423.1_Missense_Mutation_p.D665N|PAK7_ENST00000353224.5_Missense_Mutation_p.D665N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGTGTAGGTCCTTCACTCTT	0.478													C|||	3	0.000599042	0.0008	0.0	5008	,	,		20256	0.0		0.002	False		,,,				2504	0.0				p.D665N		Atlas-SNP	.											.	PAK7	194	.	0			c.G1993A						PASS	.	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	156	158	157		1993,1993	5.5	1	20	dbSNP_134	157	18,8582	13.3+/-46.6	0,18,4282	yes	missense,missense	PAK7	NM_020341.3,NM_177990.2	23,23	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	benign,benign	665/720,665/720	9523244	18,12988	2203	4300	6503	SO:0001583	missense	57144	exon9			GTAGGTCCTTCAC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1993G>A	20.37:g.9523244C>T	ENSP00000367686:p.Asp665Asn	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	189	96	0.507937	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	13.57	2.276632	0.40294	0.0	0.002093	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.13538	2.58;2.58;2.58	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042605	0.85682	D	0.000000	T	0.12263	0.0298	N	0.25992	0.78	0.58432	D	0.999996	B	0.09022	0.002	B	0.10450	0.005	T	0.15492	-1.0435	9	.	.	.	.	19.3557	0.94412	0.0:1.0:0.0:0.0	.	665	Q9P286	PAK7_HUMAN	N	665	ENSP00000367686:D665N;ENSP00000322957:D665N;ENSP00000367679:D665N	.	D	-	1	0	PAK7	9471244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.034000	0.57289	2.597000	0.87782	0.655000	0.94253	GAC	C|0.999;T|0.001	0.001	strong		0.478	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			T	9523244	C	T	9523244	3	4	23	1	0	0	0	0	1	0	0	0	11405	855	30	2	174	2	PAK7	20	9523244	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2763538	9523244	53502276	4554	21010										
ANKRD5	63926	hgsc.bcm.edu	37	chr20	10030188	10030188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agccaaaaatccaaatccacTgtgggcccttagactgcacg	8	13	0	1	rs652633	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:10030188T>A	ENST00000378380.3	+	6	1300	c.971T>A	c.(970-972)cTg>cAg	p.L324Q	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.L324Q	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	324			L -> Q (in dbSNP:rs652633).				calcium ion binding (GO:0005509)										CCAAATCCACTGTGGGCCCTT	0.517													T|||	990	0.197684	0.2685	0.1571	5008	,	,		16990	0.0069		0.2744	False		,,,				2504	0.2485				p.L324Q		Atlas-SNP	.											.	.	.	.	0			c.T971A						PASS	.	T	GLN/LEU,GLN/LEU	1128,3278	405.1+/-333.4	145,838,1220	77	80	79		971,971	3.2	0	20	dbSNP_83	79	2417,6183	401.6+/-347.2	345,1727,2228	yes	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	113,113	490,2565,3448	AA,AT,TT		28.1047,25.6015,27.2567	benign,benign	324/777,324/777	10030188	3545,9461	2203	4300	6503	SO:0001583	missense	63926	exon6			ATCCACTGTGGGC	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.971T>A	20.37:g.10030188T>A	ENSP00000367631:p.Leu324Gln	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	112	49	0.4375	NM_198798	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	391	0.17902930402930403	116	0.23577235772357724	65	0.17955801104972377	5	0.008741258741258742	205	0.2704485488126649	T	3.673	-0.067203	0.07273	0.256015	0.281047	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.68331	-0.32;-0.32	5.6	3.19	0.36642	Ankyrin repeat-containing domain (1);	0.632290	0.16702	N	0.203072	T	0.00012	0.0000	L	0.38531	1.155	0.80722	P	0.0	B	0.10296	0.003	B	0.10450	0.005	T	0.08953	-1.0697	9	0.29301	T	0.29	0.0049	3.4295	0.07422	0.1276:0.108:0.1193:0.645	rs652633;rs52838052;rs652633	324	Q9NU02	ANKR5_HUMAN	Q	324	ENSP00000367644:L324Q;ENSP00000367631:L324Q	ENSP00000367631:L324Q	L	+	2	0	ANKRD5	9978188	0.000000	0.05858	0.017000	0.16124	0.073000	0.16967	-0.618000	0.05578	1.044000	0.40200	0.528000	0.53228	CTG	T|0.761;A|0.239	0.239	strong		0.517	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		A	10030188	T	A	10030188	3	1	23	1	0	0	0	0	1	0	0	0	676	1580	55	5	989	5	ANKRD5	20	10030188	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	506944	10030188	52995332	4555	21011										
ANKRD5	63926	hgsc.bcm.edu	37	chr20	10030452	10030452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttgtcttaggatcgtatgGacctaagaaaaaggaaaaag	10	4	1	1	rs524625	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:10030452G>A	ENST00000378380.3	+	6	1564	c.1235G>A	c.(1234-1236)gGa>gAa	p.G412E	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G412E	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	412			G -> E (in dbSNP:rs524625).				calcium ion binding (GO:0005509)										GGATCGTATGGACCTAAGAAA	0.413													G|||	980	0.195687	0.2799	0.1556	5008	,	,		19334	0.0069		0.2604	False		,,,				2504	0.2382				p.G412E		Atlas-SNP	.											.	.	.	.	0			c.G1235A						PASS	.	G	GLU/GLY,GLU/GLY	1155,3247		155,845,1201	45	53	50		1235,1235	5.9	1	20	dbSNP_83	50	2224,6370		292,1640,2365	yes	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	98,98	447,2485,3566	AA,AG,GG		25.8785,26.2381,26.0003	probably-damaging,probably-damaging	412/777,412/777	10030452	3379,9617	2201	4297	6498	SO:0001583	missense	63926	exon6			CGTATGGACCTAA	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1235G>A	20.37:g.10030452G>A	ENSP00000367631:p.Gly412Glu	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	42	18	0.428571	NM_198798	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	387	0.1771978021978022	122	0.24796747967479674	65	0.17955801104972377	5	0.008741258741258742	195	0.25725593667546176	G	12.66	2.005879	0.35415	0.262381	0.258785	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64991	-0.13;-0.13	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.194693	0.53938	D	0.000057	T	0.00039	0.0001	L	0.52011	1.625	0.09310	P	0.999999164682	D	0.89917	1.0	D	0.71414	0.973	T	0.00294	-1.1840	9	0.26408	T	0.33	-20.6073	20.5632	0.99335	0.0:0.0:1.0:0.0	rs524625;rs52809150;rs58343015;rs524625	412	Q9NU02	ANKR5_HUMAN	E	412	ENSP00000367644:G412E;ENSP00000367631:G412E	ENSP00000367631:G412E	G	+	2	0	ANKRD5	9978452	0.997000	0.39634	0.995000	0.50966	0.044000	0.14063	1.841000	0.39240	2.937000	0.99478	0.650000	0.86243	GGA	G|0.769;A|0.231	0.231	strong		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		A	10030452	G	A	10030452	3	1	23	1	0	0	0	0	1	0	0	0	676	1174	41	2	1253	2	ANKRD5	20	10030452	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	264	10030452	52995068	4556	21012										
SEL1L2	80343	hgsc.bcm.edu	37	chr20	13912309	13912309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccttttattcttattttacGttgattcttctttttctcca	2	9	4	1	rs41275404	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:13912309G>A	ENST00000284951.5	-	3	297	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	SEL1L2_ENST00000378072.5_Missense_Mutation_p.R75C|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	75						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTATTTTACGTTGATTCTTC	0.249													G|||	271	0.0541134	0.0083	0.0922	5008	,	,		15442	0.001		0.1471	False		,,,				2504	0.0481				p.R75C		Atlas-SNP	.											SEL1L2,colon,carcinoma,0,1	SEL1L2	103	1	0			c.C223T						PASS	.	G	CYS/ARG	99,3455		1,97,1679	59	52	54		223	1.9	0	20	dbSNP_127	54	1041,7023		65,911,3056	yes	missense	SEL1L2	NM_025229.1	180	66,1008,4735	AA,AG,GG		12.9092,2.7856,9.8124	possibly-damaging	75/689	13912309	1140,10478	1777	4032	5809	SO:0001583	missense	80343	exon3			TTTTACGTTGATT	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.223C>T	20.37:g.13912309G>A	ENSP00000284951:p.Arg75Cys	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	154	65	0.422078	NM_001271539	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		151	0.06913919413919414	7	0.014227642276422764	34	0.09392265193370165	0	0.0	110	0.14511873350923482	G	6.852	0.526474	0.13066	0.027856	0.129092	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.24723	1.84;2.16	5.11	1.92	0.25849	.	1.668320	0.03077	N	0.157986	T	0.00073	0.0002	N	0.14661	0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	9	0.37606	T	0.19	3.976	2.2167	0.03962	0.1072:0.1386:0.4371:0.3171	rs41275404	75;75	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	C	75	ENSP00000367312:R75C;ENSP00000284951:R75C	ENSP00000284951:R75C	R	-	1	0	SEL1L2	13860309	0.627000	0.27129	0.000000	0.03702	0.309000	0.27889	1.730000	0.38125	0.222000	0.20900	0.655000	0.94253	CGT	G|0.910;A|0.090	0.090	strong		0.249	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13912309	G	A	13912309	3	1	23	1	0	0	0	0	1	0	0	0	14011	1145	40	1	1915	1	SEL1L2	20	13912309	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3881857	13912309	49113211	4557	21013										
MACROD2	140733	hgsc.bcm.edu	37	chr20	14066276	14066276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctattacagaagaaaataCtcaggaaacatcccaggtga	7	8	2	3	rs2990505	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:14066276C>T	ENST00000310348.4	+	3	173	c.173C>T	c.(172-174)aCt>aTt	p.T58I	MACROD2_ENST00000217246.4_Missense_Mutation_p.T58I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	58			T -> I (in dbSNP:rs2990505). {ECO:0000269|PubMed:14702039}.		brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T58I(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGAAAATACTCAGGAAACA	0.313													C|||	1291	0.257788	0.3056	0.2983	5008	,	,		12783	0.1895		0.2346	False		,,,				2504	0.2587				p.T58I		Atlas-SNP	.											C20orf133,NS,carcinoma,0,1	MACROD2	34	1	1	Substitution - Missense(1)	stomach(1)	c.C173T						PASS	.	C	ILE/THR	1061,2531		162,737,897	59	54	55		173	4.8	1	20	dbSNP_101	55	1704,6412		192,1320,2546	yes	missense	MACROD2	NM_080676.5	89	354,2057,3443	TT,TC,CC		20.9956,29.5379,23.6163	benign	58/426	14066276	2765,8943	1796	4058	5854	SO:0001583	missense	140733	exon3			AAAATACTCAGGA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.173C>T	20.37:g.14066276C>T	ENSP00000309809:p.Thr58Ile	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	159	81	0.509434	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	542	0.24816849816849818	158	0.32113821138211385	98	0.27071823204419887	114	0.1993006993006993	172	0.22691292875989447	C	12.51	1.960781	0.34565	0.295379	0.209956	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.39997	1.05;1.05	5.76	4.81	0.61882	.	1.553840	0.03488	N	0.216141	T	0.00012	0.0000	L	0.36672	1.1	0.09310	P	0.9999999999999948	B;B	0.26975	0.099;0.165	B;B	0.30105	0.015;0.111	T	0.06826	-1.0805	9	0.48119	T	0.1	0.6917	12.9468	0.58376	0.0:0.9198:0.0:0.0802	rs2990505;rs52812396;rs59845301;rs2990505	58;58	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	I	58	ENSP00000217246:T58I;ENSP00000309809:T58I	ENSP00000217246:T58I	T	+	2	0	MACROD2	14014276	0.996000	0.38824	0.985000	0.45067	0.976000	0.68499	2.427000	0.44740	2.724000	0.93272	0.585000	0.79938	ACT	C|0.749;T|0.251	0.251	strong		0.313	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	14066276	C	T	14066276	3	4	23	1	0	0	0	0	1	0	0	0	9146	565	20	2	183	2	MACROD2	20	14066276	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	153967	14066276	48959244	4558	21014										
BFSP1	631	hgsc.bcm.edu	37	chr20	17475217	17475217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcataaagcacagagtcttcCgcaacagaaacagccacccc	6	15	2	2	rs6136118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:17475217C>T	ENST00000377873.3	-	8	1539	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A	BFSP1_ENST00000377868.2_Silent_p.A375A|BFSP1_ENST00000536626.1_Silent_p.A361A|BFSP1_ENST00000544874.1_Silent_p.A361A	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	500	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CAGAGTCTTCCGCAACAGAAA	0.552													C|||	1700	0.339457	0.3404	0.3069	5008	,	,		15488	0.4038		0.2435	False		,,,				2504	0.3937				p.A500A		Atlas-SNP	.											.	BFSP1	55	.	0			c.G1500A						PASS	.	C	,	1458,2948	472.8+/-356.5	251,956,996	64	56	58		1125,1500	0.3	0.2	20	dbSNP_114	58	2028,6572	353.6+/-329.2	246,1536,2518	no	coding-synonymous,coding-synonymous	BFSP1	NM_001161705.1,NM_001195.3	,	497,2492,3514	TT,TC,CC		23.5814,33.0912,26.803	,	375/541,500/666	17475217	3486,9520	2203	4300	6503	SO:0001819	synonymous_variant	631	exon8			GTCTTCCGCAACA	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1500G>A	20.37:g.17475217C>T		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	169	87	0.514793	NM_001195	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	CCDS13126.1																																																																																			C|0.697;T|0.303	0.303	strong		0.552	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		T	17475217	C	T	17475217	2	4	23	1	0	0	0	0	0	0	0	1	1415	639	23	1		1	BFSP1	20	17475217	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3408941	17475217	45550303	4559	21015										
BFSP1	631	hgsc.bcm.edu	37	chr20	17477592	17477592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagcgttacctttcccacCggatccagtgctgagagaga	13	11	0	2	rs6080719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:17477592C>T	ENST00000377873.3	-	7	1072	c.1033G>A	c.(1033-1035)Ggt>Agt	p.G345S	BFSP1_ENST00000377868.2_Missense_Mutation_p.G220S|BFSP1_ENST00000536626.1_Missense_Mutation_p.G206S|BFSP1_ENST00000544874.1_Missense_Mutation_p.G206S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	345	Tail.		G -> S (in dbSNP:rs6080719).		cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCTTTCCCACCGGATCCAGTG	0.488													C|||	1339	0.267372	0.0794	0.2925	5008	,	,		16927	0.3998		0.2406	False		,,,				2504	0.3947				p.G345S		Atlas-SNP	.											.	BFSP1	55	.	0			c.G1033A						PASS	.	C	SER/GLY,SER/GLY	362,3984		19,324,1830	42	36	38		658,1033	-5	0	20	dbSNP_114	38	1781,6631		190,1401,2615	yes	missense,missense	BFSP1	NM_001161705.1,NM_001195.3	56,56	209,1725,4445	TT,TC,CC		21.1721,8.3295,16.7973	benign,benign	220/541,345/666	17477592	2143,10615	2173	4206	6379	SO:0001583	missense	631	exon7			TCCCACCGGATCC	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1033G>A	20.37:g.17477592C>T	ENSP00000367104:p.Gly345Ser	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	52	29	0.557692	NM_001195	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	552	0.25274725274725274	33	0.06707317073170732	104	0.287292817679558	235	0.41083916083916083	180	0.23746701846965698	C	3.787	-0.044410	0.07452	0.083295	0.211721	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.85773	-2.03;1.66;1.66;1.66	5.95	-5.02	0.02982	.	0.737426	0.13434	N	0.388172	T	0.00012	0.0000	N	0.25144	0.715	0.80722	P	0.0	B;B	0.12630	0.006;0.001	B;B	0.14023	0.01;0.001	T	0.11227	-1.0596	9	0.02654	T	1	-4.3206	13.7019	0.62613	0.0:0.1926:0.0:0.8074	rs6080719;rs52835071;rs59719438;rs6080719	220;345	Q12934-2;Q12934	.;BFSP1_HUMAN	S	345;220;206;206	ENSP00000367104:G345S;ENSP00000367099:G220S;ENSP00000442522:G206S;ENSP00000439870:G206S	ENSP00000367099:G220S	G	-	1	0	BFSP1	17425592	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.577000	0.05847	-0.687000	0.05162	-0.751000	0.03497	GGT	C|0.784;T|0.216	0.216	strong		0.488	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		T	17477592	C	T	17477592	3	4	23	1	0	0	0	0	1	0	0	0	1415	652	23	1	972	1	BFSP1	20	17477592	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2375	17477592	45547928	4560	21016										
CSRP2BP	57325	hgsc.bcm.edu	37	chr20	18168099	18168099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attctttctgaggctccggcGctgatgcgaatacagctcac	10	12	3	2	rs376874386		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:18168099G>A	ENST00000435364.3	+	10	2686	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R781H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R654H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	782	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGCTCCGGCGCTGATGCGAA	0.413																																					p.R782H		Atlas-SNP	.											.	CSRP2BP	80	.	0			c.G2345A						PASS	.	G	HIS/ARG	0,4406		0,0,2203	73	73	73		2345	5.9	1	20		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSRP2BP	NM_020536.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	782/783	18168099	1,13005	2203	4300	6503	SO:0001583	missense	57325	exon10			TCCGGCGCTGATG	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2345G>A	20.37:g.18168099G>A	ENSP00000392318:p.Arg782His	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	65	29	0.446154	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598337	0.96614	0.0	1.16E-4	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.28666	1.6;1.61;1.6;1.63	5.87	5.87	0.94306	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58945	-0.7546	10	0.87932	D	0	.	20.2147	0.98293	0.0:0.0:1.0:0.0	.	654;782	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	782;781;782;654	ENSP00000278816:R782H;ENSP00000366909:R781H;ENSP00000392318:R782H;ENSP00000425909:R654H	ENSP00000278816:R782H	R	+	2	0	CSRP2BP	18116099	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.750000	0.98875	2.785000	0.95823	0.591000	0.81541	CGC	.	.	weak		0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		A	18168099	G	A	18168099	3	1	23	1	0	0	0	0	1	0	0	0	3968	1087	38	1	2383	1	CSRP2BP	20	18168099	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	690507	18168099	44857421	4561	21017										
RIN2	54453	hgsc.bcm.edu	37	chr20	19970705	19970705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaagcccctcaaggggcaCgtggaggccatgctgaagga	15	10	1	2	rs2076584	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:19970705C>T	ENST00000255006.6	+	9	2114	c.1965C>T	c.(1963-1965)caC>caT	p.H655H	RIN2_ENST00000440354.2_Silent_p.H173H|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	606	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCAAGGGGCACGTGGAGGCCA	0.522													C|||	2073	0.413938	0.3782	0.4784	5008	,	,		20397	0.6806		0.33	False		,,,				2504	0.228				p.H655H		Atlas-SNP	.											.	RIN2	126	.	0			c.C1965T						PASS	.	C	,	1428,2382		266,896,743	23	25	24		1965,1818	-1.1	1	20	dbSNP_96	24	2495,5757		376,1743,2007	yes	coding-synonymous,coding-synonymous	RIN2	NM_001242581.1,NM_018993.3	,	642,2639,2750	TT,TC,CC		30.2351,37.4803,32.5236	,	655/945,606/896	19970705	3923,8139	1905	4126	6031	SO:0001819	synonymous_variant	54453	exon9			GGGGCACGTGGAG	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1965C>T	20.37:g.19970705C>T		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	152	69	0.453947	NM_001242581	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																			C|0.570;T|0.430	0.430	strong		0.522	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19970705	C	T	19970705	2	4	23	1	0	0	0	0	0	0	0	1	13372	535	19	1		1	RIN2	20	19970705	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1802606	19970705	43054815	4562	21018										
NKX2-2	4821	hgsc.bcm.edu	37	chr20	21494184	21494184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagcggcccggccctcttggCtggctcgggcccctcgttct	13	18	2	0	rs8192562	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:21494184C>T	ENST00000377142.4	-	1	480	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	42					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCCTCTTGGCTGGCTCGGGC	0.667													C|||	150	0.0299521	0.003	0.0418	5008	,	,		9819	0.0		0.0944	False		,,,				2504	0.0225				p.A42T		Atlas-SNP	.											.	NKX2-2	49	.	0			c.G124A						PASS	.	C	THR/ALA	65,4341	59.3+/-96.0	1,63,2139	26	27	27		124	1.5	1	20	dbSNP_117	27	679,7921	164.6+/-216.9	27,625,3648	yes	missense	NKX2-2	NM_002509.3	58	28,688,5787	TT,TC,CC		7.8953,1.4753,5.7204	benign	42/274	21494184	744,12262	2203	4300	6503	SO:0001583	missense	4821	exon1			TCTTGGCTGGCTC	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.124G>A	20.37:g.21494184C>T	ENSP00000366347:p.Ala42Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	31	17	0.548387	NM_002509		Missense_Mutation	SNP	ENST00000377142.4	37	CCDS13145.1	85	0.03891941391941392	4	0.008130081300813009	20	0.055248618784530384	0	0.0	61	0.08047493403693931	C	9.981	1.228068	0.22542	0.014753	0.078953	ENSG00000125820	ENST00000377142	D	0.90676	-2.71	4.9	1.46	0.22682	.	0.218384	0.29021	N	0.013386	T	0.10465	0.0256	N	0.01352	-0.895	0.30555	N	0.765043	B	0.02656	0.0	B	0.04013	0.001	T	0.47873	-0.9083	10	0.13470	T	0.59	.	4.5555	0.12135	0.0:0.3915:0.3003:0.3081	rs8192562	42	O95096	NKX22_HUMAN	T	42	ENSP00000366347:A42T	ENSP00000366347:A42T	A	-	1	0	NKX2-2	21442184	0.887000	0.30362	0.959000	0.39883	0.604000	0.37047	1.396000	0.34531	1.050000	0.40346	-0.252000	0.11476	GCC	C|0.952;T|0.048	0.048	strong		0.667	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			T	21494184	C	T	21494184	3	4	23	1	0	0	0	0	1	0	0	0	10450	797	28	2	705	2	NKX2-2	20	21494184	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1523479	21494184	41531336	4563	21019										
CD93	22918	hgsc.bcm.edu	37	chr20	23065879	23065879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcccatggggtcccaggacGcacgtggcccccccacgaca	11	18	0	0	rs34170527	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:23065879G>A	ENST00000246006.4	-	1	1098	c.951C>T	c.(949-951)tgC>tgT	p.C317C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	317	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCCCAGGACGCACGTGGCCC	0.637													G|||	121	0.0241613	0.0023	0.0216	5008	,	,		16645	0.0		0.0626	False		,,,				2504	0.0409				p.C317C		Atlas-SNP	.											.	CD93	84	.	0			c.C951T						PASS	.	G		58,4348	54.9+/-90.9	0,58,2145	40	44	43		951	-6.6	0	20	dbSNP_126	43	572,8028	150.7+/-205.6	17,538,3745	no	coding-synonymous	CD93	NM_012072.3		17,596,5890	AA,AG,GG		6.6512,1.3164,4.8439		317/653	23065879	630,12376	2203	4300	6503	SO:0001819	synonymous_variant	22918	exon1			CAGGACGCACGTG	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.951C>T	20.37:g.23065879G>A		Somatic	236	1	0.00423729		WXS	Illumina HiSeq	Phase_I	213	117	0.549296	NM_012072	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																			G|0.958;A|0.042	0.042	strong		0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23065879	G	A	23065879	2	1	23	1	0	0	0	0	0	0	0	1	3047	1079	38	1		1	CD93	20	23065879	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1571695	23065879	39959641	4564	21020										
CSTL1	128817	hgsc.bcm.edu	37	chr20	23424613	23424613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagtcactgtgaagattggcTggaccaaatgcaagaggaat	12	6	1	3	rs3746736	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:23424613T>C	ENST00000246020.2	+	2	282	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R	CSTL1_ENST00000347397.1_Missense_Mutation_p.W88R			Q9H114	CST1L_HUMAN	cystatin-like 1	88			W -> R (in dbSNP:rs3746736). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GAAGATTGGCTGGACCAAATG	0.512													C|||	3280	0.654952	0.857	0.6023	5008	,	,		19368	0.7292		0.494	False		,,,				2504	0.5082				p.W88R		Atlas-SNP	.											.	CSTL1	30	.	0			c.T262C						PASS	.	C	ARG/TRP	3464,942	358.4+/-314.3	1363,738,102	145	121	129		262	-0.6	0.9	20	dbSNP_107	129	4335,4265	575.1+/-390.2	1110,2115,1075	yes	missense	CSTL1	NM_138283.1	101	2473,2853,1177	CC,CT,TT		49.593,21.3799,40.0354	benign	88/146	23424613	7799,5207	2203	4300	6503	SO:0001583	missense	128817	exon3			ATTGGCTGGACCA	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.262T>C	20.37:g.23424613T>C	ENSP00000246020:p.Trp88Arg	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	154	73	0.474026	NM_138283	Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	CCDS13153.1	1444	0.6611721611721612	425	0.8638211382113821	222	0.6132596685082873	434	0.7587412587412588	363	0.4788918205804749	C	0.003	-2.488228	0.00161	0.786201	0.50407	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.10192	2.9;2.9	4.06	-0.597	0.11653	Proteinase inhibitor I25, cystatin (2);	0.000000	0.41500	N	0.000870	T	0.00012	0.0000	N	0.00020	-2.765	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.02654	T	1	-13.8332	6.2799	0.21001	0.4857:0.4075:0.0:0.1068	rs3746736;rs17683931;rs52791027;rs58676320;rs3746736	88	Q9H114	CST1L_HUMAN	R	88	ENSP00000344907:W88R;ENSP00000246020:W88R	ENSP00000246020:W88R	W	+	1	0	CSTL1	23372613	0.062000	0.20869	0.901000	0.35422	0.035000	0.12851	-0.270000	0.08584	-0.325000	0.08577	-0.929000	0.02709	TGG	C|0.629;N|0.000	0.629	strong		0.512	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			C	23424613	T	C	23424613	3	2	23	1	0	0	0	0	1	0	0	0	3987	1580	55	3	268	3	CSTL1	20	23424613	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	358734	23424613	39600907	4565	21021										
CST5	1473	hgsc.bcm.edu	37	chr20	23860178	23860178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatggcaaagtccagggcacActgcacactcttgtcattga	10	11	2	1	rs1799841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:23860178A>G	ENST00000304710.4	-	1	209	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	46			C -> R (in 45% of the population; dbSNP:rs1799841). {ECO:0000269|PubMed:8444475}.		negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.C46R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TCCAGGGCACACTGCACACTC	0.577													g|||	2830	0.565096	0.8139	0.5476	5008	,	,		17019	0.494		0.4453	False		,,,				2504	0.4376				p.C46R		Atlas-SNP	.											CST5,NS,carcinoma,0,1	CST5	24	1	1	Substitution - Missense(1)	stomach(1)	c.T136C						scavenged	.	G	ARG/CYS	3301,1105		1250,801,152	182	166	171		136	-0.4	0	20	dbSNP_89	171	3740,4860		816,2108,1376	yes	missense	CST5	NM_001900.4	180	2066,2909,1528	GG,GA,AA		43.4884,25.0794,45.8634	benign	46/143	23860178	7041,5965	2203	4300	6503	SO:0001583	missense	1473	exon1			GGGCACACTGCAC		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.136T>C	20.37:g.23860178A>G	ENSP00000307132:p.Cys46Arg	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	132	70	0.530303	NM_001900	Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	1186	0.543040293040293	389	0.790650406504065	192	0.5303867403314917	270	0.47202797202797203	335	0.4419525065963061	N	0.003	-2.500876	0.00157	0.749206	0.434884	ENSG00000170367	ENST00000304710	T	0.24723	1.84	1.99	-0.399	0.12415	Proteinase inhibitor I25, cystatin (2);	0.860793	0.10208	N	0.702474	T	0.00012	0.0000	N	0.00054	-2.38	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37526	-0.9702	9	0.06757	T	0.87	.	0.8314	0.01131	0.162:0.2324:0.3697:0.236	rs1799841;rs52827118;rs61231587;rs1799841	46	P28325	CYTD_HUMAN	R	46	ENSP00000307132:C46R	ENSP00000307132:C46R	C	-	1	0	CST5	23808178	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.217000	0.02979	-0.410000	0.07542	-0.380000	0.06706	TGT	A|0.455;G|0.545	0.545	strong		0.577	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		G	23860178	A	G	23860178	3	3	23	1	0	0	0	0	1	0	0	0	3975	159	6	2	304	2	CST5	20	23860178	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	435565	23860178	39165342	4566	21022										
PYGB	5834	hgsc.bcm.edu	37	chr20	25255338	25255338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggagcacacccccgacggCgtgaagtggctggacacaca	14	13	0	1	rs2227894	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:25255338C>T	ENST00000216962.4	+	5	749	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	213					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CCCCCGACGGCGTGAAGTGGC	0.632													C|||	613	0.122404	0.3253	0.062	5008	,	,		18316	0.0645		0.0567	False		,,,				2504	0.0184				p.G213G		Atlas-SNP	.											PYGB,NS,carcinoma,+2,1	PYGB	84	1	0			c.C639T						PASS	.	C		1287,3119	437.2+/-344.9	185,917,1101	88	100	96		639	-8.1	0	20	dbSNP_98	96	391,8209	125.5+/-184.1	7,377,3916	no	coding-synonymous	PYGB	NM_002862.3		192,1294,5017	TT,TC,CC		4.5465,29.2102,12.9017		213/844	25255338	1678,11328	2203	4300	6503	SO:0001819	synonymous_variant	5834	exon5			CGACGGCGTGAAG		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.639C>T	20.37:g.25255338C>T		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	38	22	0.578947	NM_002862	Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	CCDS13171.1																																																																																			C|0.873;G|0.000;T|0.126	0.126	strong		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25255338	C	T	25255338	2	4	23	1	0	0	0	0	0	0	0	1	12860	755	27	1		1	PYGB	20	25255338	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1395160	25255338	37770182	4567	21023										
PYGB	5834	hgsc.bcm.edu	37	chr20	25259006	25259006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggagtacttcgtggtggccGccacgctccaggacatcatc	12	13	1	0	rs2228976	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:25259006G>T	ENST00000216962.4	+	8	1017	c.907G>T	c.(907-909)Gcc>Tcc	p.A303S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	303			A -> S (in dbSNP:rs2228976).		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.A303S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CGTGGTGGCCGCCACGCTCCA	0.607													g|||	813	0.16234	0.053	0.1297	5008	,	,		17613	0.3512		0.1849	False		,,,				2504	0.1155				p.A303S		Atlas-SNP	.											PYGB,NS,carcinoma,0,2	PYGB	84	2	1	Substitution - Missense(1)	stomach(1)	c.G907T						PASS	.	G	SER/ALA	352,4054	181.2+/-209.3	10,332,1861	80	73	75		907	3.6	1	20	dbSNP_98	75	1597,7003	296.5+/-302.9	154,1289,2857	yes	missense	PYGB	NM_002862.3	99	164,1621,4718	TT,TG,GG		18.5698,7.9891,14.9854	probably-damaging	303/844	25259006	1949,11057	2203	4300	6503	SO:0001583	missense	5834	exon8			GTGGCCGCCACGC		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.907G>T	20.37:g.25259006G>T	ENSP00000216962:p.Ala303Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	127	57	0.448819	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	427	0.1955128205128205	29	0.05894308943089431	58	0.16022099447513813	198	0.34615384615384615	142	0.18733509234828497	G	29.8	5.036398	0.93630	0.079891	0.185698	ENSG00000100994	ENST00000216962	D	0.96459	-4.02	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.89095	3.005	0.09310	P	0.9999999999226815	D	0.55385	0.971	D	0.66084	0.941	T	0.00000	-1.8628	9	0.54805	T	0.06	-33.8764	15.4242	0.75038	0.0:0.0:1.0:0.0	rs2228976;rs3818199;rs2228976	303	P11216	PYGB_HUMAN	S	303	ENSP00000216962:A303S	ENSP00000216962:A303S	A	+	1	0	PYGB	25207006	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.378000	0.97191	2.027000	0.59764	0.462000	0.41574	GCC	G|0.833;T|0.167	0.167	strong		0.607	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25259006	G	T	25259006	3	4	23	1	0	0	0	0	1	0	0	0	12860	1087	38	4	937	4	PYGB	20	25259006	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3668	25259006	37766514	4568	21024										
NINL	22981	hgsc.bcm.edu	37	chr20	25456698	25456698	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctgtcgttctctctcaaatCtacatgtttctccagagccc	5	15	4	1	rs35666277	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:25456698C>T	ENST00000278886.6	-	17	3302	c.3229G>A	c.(3229-3231)Gat>Aat	p.D1077N	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1077			D -> N (in dbSNP:rs35666277).		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						TCTCTCAAATCTACATGTTTC	0.448													C|||	234	0.0467252	0.0552	0.0375	5008	,	,		20678	0.0704		0.0507	False		,,,				2504	0.0133				p.D1077N		Atlas-SNP	.											.	NINL	148	.	0			c.G3229A						PASS	.	C	ASN/ASP	246,4160	143.5+/-178.5	6,234,1963	105	92	96		3229	0.4	0	20	dbSNP_126	96	346,8254	118.1+/-177.6	6,334,3960	yes	missense	NINL	NM_025176.4	23	12,568,5923	TT,TC,CC		4.0233,5.5833,4.5517	benign	1077/1383	25456698	592,12414	2203	4300	6503	SO:0001583	missense	22981	exon17			TCAAATCTACATG		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.3229G>A	20.37:g.25456698C>T	ENSP00000278886:p.Asp1077Asn	Somatic	251	1	0.00398406		WXS	Illumina HiSeq	Phase_I	190	95	0.5	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	112	0.05128205128205128	25	0.0508130081300813	16	0.04419889502762431	33	0.057692307692307696	38	0.05013192612137203	C	3.038	-0.198210	0.06219	0.055833	0.040233	ENSG00000101004	ENST00000278886	T	0.05717	3.4	4.85	0.428	0.16499	.	1.212680	0.05789	N	0.610003	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.18741	0.03	B	0.20767	0.031	T	0.43814	-0.9368	10	0.56958	D	0.05	-1.439	4.2465	0.10674	0.1553:0.4901:0.0:0.3546	rs35666277	1077	Q9Y2I6	NINL_HUMAN	N	1077	ENSP00000278886:D1077N	ENSP00000278886:D1077N	D	-	1	0	NINL	25404698	0.080000	0.21391	0.001000	0.08648	0.013000	0.08279	0.133000	0.15912	0.462000	0.27095	0.561000	0.74099	GAT	C|0.953;T|0.047	0.047	strong		0.448	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25456698	C	T	25456698	3	4	23	1	0	0	0	0	1	0	0	0	10420	913	32	2	951	2	NINL	20	25456698	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	197692	25456698	37568822	4569	21025										
ZNF337	26152	hgsc.bcm.edu	37	chr20	25666737	25666737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgggtgaaatccacagtgaCatccccaaatgccaagaaag	9	11	0	3	rs926487	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:25666737C>T	ENST00000376436.1	-	2	588	c.49G>A	c.(49-51)Gtc>Atc	p.V17I	ZNF337_ENST00000538750.1_Missense_Mutation_p.V17I|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.V17I			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		V -> I (in dbSNP:rs926487).		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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCACAGTGACATCCCCAAAT	0.552													C|||	832	0.166134	0.4478	0.0821	5008	,	,		20528	0.0734		0.0606	False		,,,				2504	0.0491				p.V17I		Atlas-SNP	.											.	ZNF337	65	.	0			c.G49A						PASS	.	C	ILE/VAL	1674,2732		305,1064,834	113	111	112		49	1	0	20	dbSNP_86	112	408,8192		7,394,3899	yes	missense	ZNF337	NM_015655.2	29	312,1458,4733	TT,TC,CC		4.7442,37.9936,16.008	probably-damaging	17/752	25666737	2082,10924	2203	4300	6503	SO:0001583	missense	26152	exon3			CAGTGACATCCCC		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.49G>A	20.37:g.25666737C>T	ENSP00000365619:p.Val17Ile	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_015655	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	315	0.14423076923076922	203	0.41260162601626016	32	0.08839779005524862	34	0.05944055944055944	46	0.06068601583113457	.	15.97	2.989929	0.54041	0.379936	0.047442	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.08720	3.06;3.06;3.06	2.02	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	M	0.78285	2.405	0.80722	P	0.0	D;D	0.56968	0.978;0.978	D;D	0.63793	0.918;0.918	T	0.44862	-0.9300	8	0.87932	D	0	.	6.0643	0.19854	0.0:0.8238:0.0:0.1762	rs926487;rs52820675;rs926487	17;17	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	I	17	ENSP00000365619:V17I;ENSP00000252979:V17I;ENSP00000442181:V17I	ENSP00000252979:V17I	V	-	1	0	ZNF337	25614737	0.403000	0.25319	0.009000	0.14445	0.959000	0.62525	1.441000	0.35035	0.074000	0.16767	0.461000	0.40582	GTC	C|0.838;T|0.162	0.162	strong		0.552	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			T	25666737	C	T	25666737	3	4	23	1	0	0	0	0	1	0	0	0	17850	478	17	2	2218	2	ZNF337	20	25666737	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	210039	25666737	37358783	4570	21026										
TPX2	22974	hgsc.bcm.edu	37	chr20	30382315	30382315	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttctgcttggagactgacagAagaggtgctctgaaggcaca	13	8	2	5	rs3203770	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:30382315A>G	ENST00000300403.6	+	15	2325	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	TPX2_ENST00000340513.4_Silent_p.R635R	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	599					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGACTGACAGAAGAGGTGCTC	0.488													A|||	1122	0.224042	0.5454	0.1599	5008	,	,		18629	0.0		0.2346	False		,,,				2504	0.0552				p.R599R		Atlas-SNP	.											.	TPX2	61	.	0			c.A1797G						PASS	.	A		2046,2360	566.7+/-382.0	471,1104,628	111	104	107		1797	0.3	0.6	20	dbSNP_105	107	1814,6786	326.8+/-317.6	191,1432,2677	no	coding-synonymous	TPX2	NM_012112.4		662,2536,3305	GG,GA,AA		21.093,46.4367,29.6786		599/748	30382315	3860,9146	2203	4300	6503	SO:0001819	synonymous_variant	22974	exon15			TGACAGAAGAGGT	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1797A>G	20.37:g.30382315A>G		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	103	103	1	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	ENST00000300403.6	37	CCDS13190.1																																																																																			A|0.722;G|0.278	0.278	strong		0.488	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			G	30382315	A	G	30382315	2	3	23	1	0	0	0	0	0	0	0	1	16429	243	9	2		2	TPX2	20	30382315	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4715578	30382315	32643205	4571	21027										
TTLL9	164395	hgsc.bcm.edu	37	chr20	30527065	30527065	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aactttgtgaccaacacacaTctcggtatgtagggccaggt	10	10	1	1	rs6061043	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:30527065T>C	ENST00000375938.4	+	14	1492	c.1239T>C	c.(1237-1239)caT>caC	p.H413H	TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000535842.1_Silent_p.H413H			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	413					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.H413H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACACACATCTCGGTATGT	0.557													C|||	2128	0.42492	0.8086	0.4006	5008	,	,		17804	0.1171		0.4195	False		,,,				2504	0.2464				p.H413H		Atlas-SNP	.											TTLL9,NS,carcinoma,0,1	TTLL9	95	1	1	Substitution - coding silent(1)	prostate(1)	c.T1239C						PASS	.	C		3006,1022		1134,738,142	57	65	63		1239	2.8	0.9	20	dbSNP_114	63	3460,4900		722,2016,1442	no	coding-synonymous	TTLL9	NM_001008409.2		1856,2754,1584	CC,CT,TT		41.3876,25.3724,47.8043		413/440	30527065	6466,5922	2014	4180	6194	SO:0001819	synonymous_variant	164395	exon14			CACACATCTCGGT	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1239T>C	20.37:g.30527065T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	63	30	0.47619	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	CCDS42863.1																																																																																			T|0.572;C|0.428	0.428	strong		0.557	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		C	30527065	T	C	30527065	2	2	23	1	0	0	0	0	0	0	0	1	16731	1432	50	2		2	TTLL9	20	30527065	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	144750	30527065	32498455	4572	21028										
ASXL1	171023	hgsc.bcm.edu	37	chr20	31024274	31024274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgctatgtcacaggacagTaattcaaatgctgctccagg	10	10	2	0	rs4911231	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31024274T>C	ENST00000375687.4	+	13	4183	c.3759T>C	c.(3757-3759)agT>agC	p.S1253S	ASXL1_ENST00000306058.5_Silent_p.S1248S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1253					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CACAGGACAGTAATTCAAATG	0.448			"F, N, Mis"		"MDS, CMML"								T|||	2032	0.405751	0.1664	0.4294	5008	,	,		21767	0.7411		0.3499	False		,,,				2504	0.4243				p.S1253S		Atlas-SNP	.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114	.	0			c.T3759C						PASS	.	T		847,3559	335.5+/-303.9	85,677,1441	96	90	92		3759	0.7	0.4	20	dbSNP_111	92	3316,5284	494.0+/-373.7	630,2056,1614	no	coding-synonymous	ASXL1	NM_015338.5		715,2733,3055	CC,CT,TT		38.5581,19.2238,32.0083		1253/1542	31024274	4163,8843	2203	4300	6503	SO:0001819	synonymous_variant	171023	exon12			GGACAGTAATTCA	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3759T>C	20.37:g.31024274T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	57	29	0.508772	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																			T|0.653;C|0.347	0.347	strong		0.448	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		C	31024274	T	C	31024274	2	2	23	1	0	0	0	0	0	0	0	1	1066	1635	57	2		2	ASXL1	20	31024274	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	497209	31024274	32001246	4573	21029										
C20orf112	140688	hgsc.bcm.edu	37	chr20	31044059	31044059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgatgggctgatcctcggcGgccgtggtgaagtccatggg	17	9	0	3	rs570929204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31044059G>A	ENST00000359676.5	-	3	391	c.249C>T	c.(247-249)gcC>gcT	p.A83A	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		83						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GATCCTCGGCGGCCGTGGTGA	0.687													G|||	4	0.000798722	0.0	0.0	5008	,	,		17312	0.0		0.0	False		,,,				2504	0.0041				p.A327A		Atlas-SNP	.											.	C20orf112	39	.	0			c.C981T						PASS	.						43	40	41					20																	31044059		2203	4298	6501	SO:0001819	synonymous_variant	140688	exon6			CTCGGCGGCCGTG																												ENST00000359676.5:c.249C>T	20.37:g.31044059G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	152	71	0.467105	NM_001256798	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	CCDS13202.1																																																																																			.	.	none		0.687	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			A	31044059	G	A	31044059	2	1	23	1	0	0	0	0	0	0	0	1	2081	1103	39	1		1	C20orf112	20	31044059	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19785	31044059	31981461	4574	21030										
DNMT3B	1789	hgsc.bcm.edu	37	chr20	31386449	31386449	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgacacggggcttgaataTgtaagccacaggctcccgcc	12	12	0	2	rs2424922	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31386449T>C	ENST00000328111.2	+	15	1995	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	DNMT3B_ENST00000443239.3_Splice_Site_p.Y496Y|DNMT3B_ENST00000201963.3_Splice_Site_p.Y550Y|DNMT3B_ENST00000353855.2_Splice_Site_p.Y538Y|DNMT3B_ENST00000348286.2_Splice_Site_p.Y538Y|DNMT3B_ENST00000344505.4_Splice_Site_p.Y538Y|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Splice_Site_p.Y462Y	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	558					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTTGAATATGTAAGCCACA	0.572													C|||	3785	0.755791	0.913	0.6599	5008	,	,		14182	0.9931		0.4205	False		,,,				2504	0.7117				p.Y558Y		Atlas-SNP	.											.	DNMT3B	196	.	0			c.T1674C						PASS	.	C	,,,,,	3664,742		1540,584,79	25	30	28		1488,1386,1674,1614,1614,1650	-6.2	0.5	20	dbSNP_100	28	3850,4750		886,2078,1336	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	2426,2662,1415	CC,CT,TT		44.7674,16.8407,42.2267	,,,,,	496/729,462/695,558/854,538/834,538/771,550/846	31386449	7514,5492	2203	4300	6503	SO:0001630	splice_region_variant	1789	exon15			TGAATATGTAAGC		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1674+1T>C	20.37:g.31386449T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_006892	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																			T|0.354;C|0.646	0.646	strong		0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Silent	C	31386449	T	C	31386449	5	2	23	1	0	0	0	0	0	0	1	0	4677	1478	51	2	1768	2	DNMT3B	20	31386449	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	342390	31386449	31639071	4575	21031										
MAPRE1	22919	hgsc.bcm.edu	37	chr20	31427635	31427635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggtgtgggcaacggagaCgacgaggcagctgagttgat	17	8	0	3	rs2070090	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31427635C>T	ENST00000375571.5	+	5	709	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	190	EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GCAACGGAGACGACGAGGCAG	0.612													C|||	1557	0.310903	0.4372	0.2161	5008	,	,		17507	0.3651		0.1461	False		,,,				2504	0.3211				p.D190D		Atlas-SNP	.											.	MAPRE1	17	.	0			c.C570T						PASS	.	C		1686,2720	513.1+/-368.2	311,1064,828	128	133	131		570	1.6	1	20	dbSNP_96	131	1437,7163	276.1+/-292.1	120,1197,2983	no	coding-synonymous	MAPRE1	NM_012325.2		431,2261,3811	TT,TC,CC		16.7093,38.266,24.012		190/269	31427635	3123,9883	2203	4300	6503	SO:0001819	synonymous_variant	22919	exon5			CGGAGACGACGAG	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.570C>T	20.37:g.31427635C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	124	59	0.475806	NM_012325	B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	CCDS13208.1																																																																																			C|0.738;T|0.261	0.261	strong		0.612	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		T	31427635	C	T	31427635	2	4	23	1	0	0	0	0	0	0	0	1	9294	535	19	1		1	MAPRE1	20	31427635	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	41186	31427635	31597885	4576	21032										
C20orf70	140683	hgsc.bcm.edu	37	chr20	31761919	31761919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	actccctcatcctggatgtcAaagctgaaccgatcgatgat	8	12	2	2	rs17304572	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31761919A>G	ENST00000253362.2	+	4	483	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	BPIFA2_ENST00000354932.5_Missense_Mutation_p.K113E			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	113			K -> E (in dbSNP:rs17304572).			extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										CCTGGATGTCAAAGCTGAACC	0.507													A|||	36	0.0071885	0.0008	0.0447	5008	,	,		20651	0.0		0.003	False		,,,				2504	0.001				p.K113E		Atlas-SNP	.											.	.	.	.	0			c.A337G						PASS	.	A	GLU/LYS	9,4397	15.5+/-35.6	0,9,2194	190	130	150		337	0.5	0	20	dbSNP_123	150	65,8535	39.3+/-95.6	0,65,4235	yes	missense	BPIFA2	NM_080574.2	56	0,74,6429	GG,GA,AA		0.7558,0.2043,0.569	possibly-damaging	113/250	31761919	74,12932	2203	4300	6503	SO:0001583	missense	140683	exon4			GATGTCAAAGCTG	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.337A>G	20.37:g.31761919A>G	ENSP00000253362:p.Lys113Glu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	126	58	0.460317	NM_080574	Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	15	0.006868131868131868	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	4	0.005277044854881266	A	14.94	2.685424	0.47991	0.002043	0.007558	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.05580	3.42;3.42	4.11	0.538	0.17150	.	0.626240	0.15043	N	0.283766	T	0.02767	0.0083	L	0.50919	1.6	0.09310	N	1	P	0.41624	0.757	B	0.43728	0.429	T	0.30001	-0.9993	10	0.15952	T	0.53	-20.1787	3.5768	0.07937	0.5707:0.2098:0.2195:0.0	rs17304572;rs52835642;rs56630818;rs17304572	113	Q96DR5	BPIA2_HUMAN	E	113	ENSP00000253362:K113E;ENSP00000347012:K113E	ENSP00000253362:K113E	K	+	1	0	BPIFA2	31225580	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.427000	0.21379	0.060000	0.16281	0.459000	0.35465	AAA	A|0.994;G|0.006	0.006	strong		0.507	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		G	31761919	A	G	31761919	3	3	23	1	0	0	0	0	1	0	0	0	2116	131	5	2	347	2	C20orf70	20	31761919	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	334284	31761919	31263601	4577	21033										
PLUNC	51297	hgsc.bcm.edu	37	chr20	31825568	31825568	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgggctgttagcccagacCatggcccagtttggaggcct	13	12	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:31825568C>A	ENST00000354297.4	+	2	122	c.51C>A	c.(49-51)acC>acA	p.T17T	BPIFA1_ENST00000375413.4_Silent_p.T17T|BPIFA1_ENST00000375422.2_Silent_p.T17T	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	17					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TAGCCCAGACCATGGCCCAGT	0.562																																					p.T17T		Atlas-SNP	.											PLUNC,NS,carcinoma,+1,1	.	.	1	0			c.C51A						scavenged	.						84	82	82					20																	31825568		2203	4300	6503	SO:0001819	synonymous_variant	51297	exon2			CCAGACCATGGCC	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.51C>A	20.37:g.31825568C>A		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	107	3	0.0280374	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	CCDS13217.1																																																																																			.	.	none		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		A	31825568	C	A	31825568	2	1	23	1	0	0	0	0	0	0	0	1	12115	581	21	4		4	PLUNC	20	31825568	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	63649	31825568	31199952	4578	21034										
ZNF341	84905	hgsc.bcm.edu	37	chr20	32371640	32371640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agttcttccggcgggagcatTatctcaaactgcatgctcac	9	12	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:32371640T>C	ENST00000375200.1	+	12	2187	c.1822T>C	c.(1822-1824)Tat>Cat	p.Y608H	ZNF341_ENST00000342427.2_Missense_Mutation_p.Y601H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	608					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(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGGGAGCATTATCTCAAACT	0.612																																					p.Y601H		Atlas-SNP	.											ZNF341,NS,carcinoma,-1,1	ZNF341	73	1	0			c.T1801C						scavenged	.						84	72	76					20																	32371640		2203	4300	6503	SO:0001583	missense	84905	exon12			GAGCATTATCTCA	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1822T>C	20.37:g.32371640T>C	ENSP00000364346:p.Tyr608His	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	117	2	0.017094	NM_032819	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	T	14.18	2.458716	0.43634	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.03889	3.77;3.77	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.391329	0.26457	N	0.024268	T	0.05731	0.0150	N	0.02129	-0.67	0.49483	D	0.999798	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.62760	-0.6786	10	0.15066	T	0.55	-9.591	14.2085	0.65750	0.0:0.0:0.0:1.0	.	549;608;601	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	H	601;608	ENSP00000344308:Y601H;ENSP00000364346:Y608H	ENSP00000344308:Y601H	Y	+	1	0	ZNF341	31835301	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.366000	0.79548	2.018000	0.59344	0.381000	0.24937	TAT	.	.	none		0.612	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				C	32371640	T	C	32371640	3	2	23	1	0	0	0	0	1	0	0	0	17854	1754	61	2	1847	2	ZNF341	20	32371640	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	546072	32371640	30653880	4579	21035										
CEP250	11190	hgsc.bcm.edu	37	chr20	34092076	34092076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatcaggaggaggctgcccGggcccgggctgaggctctgc	18	13	2	1	rs56259282	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:34092076G>A	ENST00000397527.1	+	30	6599	c.5879G>A	c.(5878-5880)cGg>cAg	p.R1960Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R1904Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1960	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGGCTGCCCGGGCCCGGGCT	0.657													G|||	24	0.00479233	0.0008	0.0115	5008	,	,		18767	0.0		0.0119	False		,,,				2504	0.0031				p.R1960Q		Atlas-SNP	.											.	CEP250	141	.	0			c.G5879A						PASS	.	G	GLN/ARG	9,4369		0,9,2180	9	11	10		5879	-4	0	20	dbSNP_129	10	103,8479		2,99,4190	yes	missense	CEP250	NM_007186.3	43	2,108,6370	AA,AG,GG		1.2002,0.2056,0.8642	benign	1960/2443	34092076	112,12848	2189	4291	6480	SO:0001583	missense	11190	exon30			CTGCCCGGGCCCG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5879G>A	20.37:g.34092076G>A	ENSP00000380661:p.Arg1960Gln	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	15	0.006868131868131868	0	0.0	8	0.022099447513812154	0	0.0	7	0.009234828496042216	G	2.257	-0.370208	0.05069	0.002056	0.012002	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.41065	3.05;3.04;1.01	4.95	-4.04	0.04010	.	1.940040	0.02640	N	0.105311	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.05550	-1.0878	10	0.12430	T	0.62	.	0.1713	0.00113	0.3233:0.1493:0.21:0.3175	rs56259282	1960	Q9BV73	CP250_HUMAN	Q	1960;1904;448	ENSP00000380661:R1960Q;ENSP00000341541:R1904Q;ENSP00000395992:R448Q	ENSP00000341541:R1904Q	R	+	2	0	CEP250	33555490	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.281000	0.08456	-0.484000	0.06763	-0.733000	0.03571	CGG	G|0.993;A|0.007	0.007	strong		0.657	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34092076	G	A	34092076	3	1	23	1	0	0	0	0	1	0	0	0	3252	1116	39	1	5985	1	CEP250	20	34092076	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1720436	34092076	28933444	4580	21036										
KIAA1755	85449	hgsc.bcm.edu	37	chr20	36869516	36869516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcctcagagctttctggCtttgtgcaagcccgatttcc	8	14	3	1	rs1205434	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:36869516C>A	ENST00000279024.4	-	3	1288	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	339			K -> N (in dbSNP:rs1205434). {ECO:0000269|PubMed:11214970}.							breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGCTTTCTGGCTTTGTGCAAG	0.498													C|||	1291	0.257788	0.1808	0.2262	5008	,	,		19642	0.2679		0.3201	False		,,,				2504	0.3098				p.K339N		Atlas-SNP	.											.	KIAA1755	145	.	0			c.G1017T						PASS	.	C	ASN/LYS	886,3520	338.6+/-305.4	94,698,1411	141	157	151		1017	3.1	0.8	20	dbSNP_87	151	2844,5756	439.9+/-359.4	504,1836,1960	yes	missense	KIAA1755	NM_001029864.1	94	598,2534,3371	AA,AC,CC		33.0698,20.1089,28.6791	possibly-damaging	339/1201	36869516	3730,9276	2203	4300	6503	SO:0001583	missense	85449	exon3			TTCTGGCTTTGTG	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1017G>T	20.37:g.36869516C>A	ENSP00000279024:p.Lys339Asn	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	75	40	0.533333	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	592	0.27106227106227104	104	0.21138211382113822	85	0.23480662983425415	149	0.26048951048951047	254	0.33509234828496043	C	15.96	2.985908	0.53934	0.201089	0.330698	ENSG00000149633	ENST00000279024	T	0.63580	-0.05	5.23	3.13	0.36017	.	0.412203	0.20484	N	0.091427	T	0.00012	0.0000	M	0.62723	1.935	0.41623	P	0.011029999999999984	B	0.15473	0.013	B	0.14023	0.01	T	0.15607	-1.0431	9	0.62326	D	0.03	.	7.9862	0.30213	0.0:0.7368:0.167:0.0961	rs1205434;rs52834934;rs61689240;rs1205434	339	Q5JYT7	K1755_HUMAN	N	339	ENSP00000279024:K339N	ENSP00000279024:K339N	K	-	3	2	KIAA1755	36302930	0.003000	0.15002	0.824000	0.32777	0.122000	0.20287	0.488000	0.22371	1.403000	0.46800	0.655000	0.94253	AAG	C|0.710;A|0.290	0.290	strong		0.498	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36869516	C	A	36869516	3	1	23	1	0	0	0	0	1	0	0	0	8257	796	28	4	2633	4	KIAA1755	20	36869516	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2777440	36869516	26156004	4581	21037										
BPI	671	hgsc.bcm.edu	37	chr20	36932676	36932676	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggcgtccctgatggtgctGgtcgccataggcaccgccgt	15	13	0	1	rs1341024	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:36932676G>C	ENST00000262865.4	+	1	152	c.63G>C	c.(61-63)ctG>ctC	p.L21L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	21					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGATGGTGCTGGTCGCCATAG	0.627													G|||	2177	0.434704	0.1619	0.5274	5008	,	,		16176	0.5823		0.5447	False		,,,				2504	0.4724				p.L21L		Atlas-SNP	.											.	BPI	67	.	0			c.G63C						PASS	.	G		979,3427	356.6+/-313.6	109,761,1333	72	64	67		63	1.8	1	20	dbSNP_88	67	4614,3986	586.2+/-392.0	1241,2132,927	yes	coding-synonymous	BPI	NM_001725.2		1350,2893,2260	CC,CG,GG		46.3488,22.2197,43.0032		21/488	36932676	5593,7413	2203	4300	6503	SO:0001819	synonymous_variant	671	exon1			GGTGCTGGTCGCC	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.63G>C	20.37:g.36932676G>C		Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	99	95	0.959596	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1																																																																																			G|0.549;C|0.451	0.451	strong		0.627	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		C	36932676	G	C	36932676	2	2	23	1	0	0	0	0	0	0	0	1	1490	1335	47	4		4	BPI	20	36932676	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	63160	36932676	26092844	4582	21038										
LBP	3929	hgsc.bcm.edu	37	chr20	36982754	36982754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcaacctcctgttgggcagcGagtcctccgggaggcccaca	12	15	1	0	rs36015492	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:36982754G>A	ENST00000217407.2	+	4	600	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	147			E -> K (in dbSNP:rs36015492).		acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTGGGCAGCGAGTCCTCCGG	0.572													G|||	36	0.0071885	0.0015	0.0101	5008	,	,		17794	0.0		0.0159	False		,,,				2504	0.0112				p.E147K		Atlas-SNP	.											.	LBP	60	.	0			c.G439A						PASS	.	G	LYS/GLU	13,4393	20.2+/-43.8	0,13,2190	86	72	77		439	4.8	0.2	20	dbSNP_126	77	122,8478	63.5+/-125.6	1,120,4179	yes	missense	LBP	NM_004139.2	56	1,133,6369	AA,AG,GG		1.4186,0.2951,1.038	possibly-damaging	147/482	36982754	135,12871	2203	4300	6503	SO:0001583	missense	3929	exon4			GGCAGCGAGTCCT		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.439G>A	20.37:g.36982754G>A	ENSP00000217407:p.Glu147Lys	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	89	51	0.573034	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	15	0.006868131868131868	2	0.0040650406504065045	5	0.013812154696132596	0	0.0	8	0.010554089709762533	G	16.78	3.217753	0.58560	0.002951	0.014186	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04502	3.61	4.77	4.77	0.60923	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.464529	0.21044	N	0.081102	T	0.05686	0.0149	L	0.60455	1.87	0.09310	N	0.999997	P	0.47484	0.896	B	0.42959	0.403	T	0.12066	-1.0562	10	0.72032	D	0.01	-10.5021	13.4963	0.61428	0.0:0.0:1.0:0.0	rs36015492	147	P18428	LBP_HUMAN	K	147	ENSP00000217407:E147K	ENSP00000217407:E147K	E	+	1	0	LBP	36416168	0.974000	0.33945	0.241000	0.24154	0.385000	0.30292	4.595000	0.61048	2.648000	0.89879	0.561000	0.74099	GAG	G|0.988;A|0.012	0.012	strong		0.572	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		A	36982754	G	A	36982754	3	1	23	1	0	0	0	0	1	0	0	0	8651	1059	37	1	453	1	LBP	20	36982754	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	50078	36982754	26042766	4583	21039										
LPIN3	64900	hgsc.bcm.edu	37	chr20	39986549	39986549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacaagttcctgtactgctcGgcgcgggccattggcatggc	13	12	0	0	rs41277020	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:39986549G>A	ENST00000373257.3	+	17	2158	c.2067G>A	c.(2065-2067)tcG>tcA	p.S689S		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	689	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGTACTGCTCGGCGCGGGCCA	0.617													G|||	6	0.00119808	0.0	0.0014	5008	,	,		18436	0.0		0.005	False		,,,				2504	0.0				p.S689S		Atlas-SNP	.											LPIN3,NS,carcinoma,+1,1	LPIN3	69	1	0			c.G2067A						PASS	.	G		5,4401	8.1+/-20.4	0,5,2198	48	53	51		2067	-10.7	0	20	dbSNP_127	51	43,8557	27.4+/-76.7	0,43,4257	no	coding-synonymous	LPIN3	NM_022896.1		0,48,6455	AA,AG,GG		0.5,0.1135,0.3691		689/852	39986549	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	64900	exon17			CTGCTCGGCGCGG	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2067G>A	20.37:g.39986549G>A		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	136	76	0.558824	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	CCDS33469.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	G	7.470	0.646463	0.14451	0.001135	0.005	ENSG00000132793	ENST00000445975	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56220	-0.8015	4	.	.	.	-10.6211	1.2268	0.01935	0.4678:0.165:0.1306:0.2365	rs41277020;rs61739750	.	.	.	Q	179	.	.	R	+	2	0	LPIN3	39419963	0.001000	0.12720	0.011000	0.14972	0.902000	0.53008	-1.379000	0.02554	-5.039000	0.00023	-2.282000	0.00269	CGG	G|0.997;A|0.003	0.003	strong		0.617	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		A	39986549	G	A	39986549	2	1	23	1	0	0	0	0	0	0	0	1	8920	1103	39	1		1	LPIN3	20	39986549	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3003795	39986549	23038971	4584	21040										
CHD6	84181	hgsc.bcm.edu	37	chr20	40080586	40080586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagtacaccaggagggcacGgcaaatcatctccatgtcct	9	13	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:40080586G>A	ENST00000373233.3	-	22	3580	c.3403C>T	c.(3403-3405)Cgt>Tgt	p.R1135C	CHD6_ENST00000309279.7_Missense_Mutation_p.R618C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1135					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGAGGGCACGGCAAATCATC	0.512																																					p.R1135C		Atlas-SNP	.											CHD6,NS,lymphoid_neoplasm,+1,3	CHD6	312	3	0			c.C3403T						scavenged	.						190	155	167					20																	40080586		2203	4300	6503	SO:0001583	missense	84181	exon22			GGGCACGGCAAAT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3403C>T	20.37:g.40080586G>A	ENSP00000362330:p.Arg1135Cys	Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	346	4	0.0115607	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174118	0.78452	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.87256	-2.23;-2.23	5.79	4.83	0.62350	.	0.000000	0.56097	D	0.000032	D	0.93638	0.7968	M	0.86268	2.805	0.42403	D	0.992574	D	0.89917	1.0	D	0.91635	0.999	D	0.94319	0.7552	10	0.59425	D	0.04	-14.5265	14.1103	0.65118	0.0:0.0:0.7278:0.2722	.	1135	Q8TD26	CHD6_HUMAN	C	1135;618	ENSP00000362330:R1135C;ENSP00000308684:R618C	ENSP00000308684:R618C	R	-	1	0	CHD6	39514000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.229000	0.58625	1.421000	0.47157	0.650000	0.86243	CGT	.	.	none		0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40080586	G	A	40080586	3	1	23	1	0	0	0	0	1	0	0	0	3329	1116	39	1	4808	1	CHD6	20	40080586	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	94037	40080586	22944934	4585	21041										
PTPRT	11122	hgsc.bcm.edu	37	chr20	40714479	40714479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggaggtcttctcaggccaGtactgcatacagaactgaga	11	11	2	2	rs2016647	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:40714479G>A	ENST00000373187.1	-	28	3860	c.3861C>T	c.(3859-3861)taC>taT	p.Y1287Y	PTPRT_ENST00000373190.1_Silent_p.Y1286Y|PTPRT_ENST00000373184.1_Silent_p.Y1297Y|PTPRT_ENST00000373198.4_Silent_p.Y1306Y|PTPRT_ENST00000356100.2_Silent_p.Y1296Y|PTPRT_ENST00000373201.1_Silent_p.Y1277Y|PTPRT_ENST00000373193.3_Silent_p.Y1290Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1287	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTCAGGCCAGTACTGCATAC	0.498													G|||	721	0.14397	0.115	0.1671	5008	,	,		17005	0.0734		0.2425	False		,,,				2504	0.138				p.Y1306Y		Atlas-SNP	.											.	PTPRT	372	.	0			c.C3918T						PASS	.	G	,	518,3350		36,446,1452	67	69	68		3861,3918	4.3	1	20	dbSNP_92	68	2056,6218		232,1592,2313	no	coding-synonymous,coding-synonymous	PTPRT	NM_007050.5,NM_133170.3	,	268,2038,3765	AA,AG,GG		24.8489,13.3919,21.1991	,	1287/1442,1306/1461	40714479	2574,9568	1934	4137	6071	SO:0001819	synonymous_variant	11122	exon29			AGGCCAGTACTGC	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3861C>T	20.37:g.40714479G>A		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	124	64	0.516129	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																			G|0.823;A|0.177	0.177	strong		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40714479	G	A	40714479	2	1	23	1	0	0	0	0	0	0	0	1	12812	1024	36	2		2	PTPRT	20	40714479	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	633893	40714479	22311041	4586	21042										
MYBL2	4605	hgsc.bcm.edu	37	chr20	42343821	42343821	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcctcaccctgtcaggtatCaaagaagacaacagcttgct	8	12	3	2	rs11556379	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:42343821C>G	ENST00000217026.4	+	13	1999	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	MYBL2_ENST00000396863.4_Missense_Mutation_p.I600M	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	624			I -> M (in dbSNP:rs11556379).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTCAGGTATCAAAGAAGACA	0.557													C|||	116	0.0231629	0.0045	0.013	5008	,	,		17326	0.001		0.0666	False		,,,				2504	0.0337				p.I624M		Atlas-SNP	.											.	MYBL2	82	.	0			c.C1872G	GRCh37	CM087205	MYBL2	M	rs11556379	PASS	.	C	MET/ILE	47,4359	48.2+/-83.0	0,47,2156	180	185	183		1872	-0.5	0.1	20	dbSNP_120	183	472,8128	138.7+/-195.5	13,446,3841	yes	missense	MYBL2	NM_002466.2	10	13,493,5997	GG,GC,CC		5.4884,1.0667,3.9905	benign	624/701	42343821	519,12487	2203	4300	6503	SO:0001583	missense	4605	exon13			AGGTATCAAAGAA		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1872C>G	20.37:g.42343821C>G	ENSP00000217026:p.Ile624Met	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	271	127	0.468635	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	58	0.026556776556776556	3	0.006097560975609756	4	0.011049723756906077	1	0.0017482517482517483	50	0.06596306068601583	C	13.76	2.334035	0.41297	0.010667	0.054884	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.14640	2.49;2.49	4.44	-0.47	0.12131	.	5.244820	0.00166	N	0.000010	T	0.00695	0.0023	N	0.08118	0	0.09310	N	0.999996	P;B	0.38250	0.624;0.257	P;B	0.44518	0.452;0.1	T	0.10660	-1.0620	10	0.34782	T	0.22	-0.9878	4.0914	0.09972	0.162:0.5021:0.0:0.3359	rs11556379;rs52823145;rs11556379	600;624	F8W6N6;P10244	.;MYBB_HUMAN	M	600;624	ENSP00000380072:I600M;ENSP00000217026:I624M	ENSP00000217026:I624M	I	+	3	3	MYBL2	41777235	0.208000	0.23494	0.071000	0.20095	0.820000	0.46376	0.263000	0.18478	0.002000	0.14630	0.491000	0.48974	ATC	C|0.968;G|0.032	0.032	strong		0.557	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		G	42343821	C	G	42343821	3	3	23	1	0	0	0	0	1	0	0	0	10010	816	29	4	1922	4	MYBL2	20	42343821	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1629342	42343821	20681699	4587	21043										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42825929	42825929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgcaggcctgaaaaggaataCacttccatatcatgccatct	7	11	2	1	rs8268	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:42825929C>T	ENST00000372970.2	-	6	822	c.642G>A	c.(640-642)gtG>gtA	p.V214V	OSER1_ENST00000255174.2_Silent_p.V214V			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	214					cellular response to hydrogen peroxide (GO:0070301)												AAAAGGAATACACTTCCATAT	0.498													C|||	1496	0.298722	0.41	0.1124	5008	,	,		23065	0.4147		0.1471	False		,,,				2504	0.317				p.V214V		Atlas-SNP	.											.	C20orf111	28	.	0			c.G642A						PASS	.	C		1506,2900	480.4+/-358.8	237,1032,934	144	123	130		642	-3.3	0.9	20	dbSNP_52	130	1152,7448	237.6+/-269.4	73,1006,3221	no	coding-synonymous	C20orf111	NM_016470.7		310,2038,4155	TT,TC,CC		13.3953,34.1807,20.4367		214/293	42825929	2658,10348	2203	4300	6503	SO:0001819	synonymous_variant	51526	exon4			GGAATACACTTCC	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.642G>A	20.37:g.42825929C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	152	150	0.986842	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	CCDS13327.1																																																																																			C|0.766;T|0.234	0.234	strong		0.498	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		T	42825929	C	T	42825929	2	4	23	1	0	0	0	0	0	0	0	1	2080	465	17	2		2	C20orf111	20	42825929	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	482108	42825929	20199591	4588	21044										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42826350	42826350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcgacgacgctgagttctcActgctcctcgtgaagacttc	10	13	1	3	rs9346	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:42826350A>C	ENST00000372970.2	-	6	401	c.221T>G	c.(220-222)gTg>gGg	p.V74G	OSER1_ENST00000255174.2_Missense_Mutation_p.V74G			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	74			V -> G (in dbSNP:rs9346).		cellular response to hydrogen peroxide (GO:0070301)												CTGAGTTCTCACTGCTCCTCG	0.423													A|||	1771	0.353634	0.5862	0.1354	5008	,	,		22691	0.4196		0.1531	False		,,,				2504	0.3323				p.V74G		Atlas-SNP	.											.	C20orf111	28	.	0			c.T221G						PASS	.	A	GLY/VAL	2235,2171	589.5+/-387.1	574,1087,542	59	57	58		221	1	1	20	dbSNP_52	58	1215,7385	243.9+/-273.3	80,1055,3165	yes	missense	C20orf111	NM_016470.7	109	654,2142,3707	CC,CA,AA		14.1279,49.2737,26.5262	benign	74/293	42826350	3450,9556	2203	4300	6503	SO:0001583	missense	51526	exon4			GTTCTCACTGCTC	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.221T>G	20.37:g.42826350A>C	ENSP00000362061:p.Val74Gly	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	49	48	0.979592	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	718	0.32875457875457875	294	0.5975609756097561	58	0.16022099447513813	242	0.4230769230769231	124	0.16358839050131926	A	12.62	1.992149	0.35131	0.507263	0.141279	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.54479	0.57;0.57	5.72	1.03	0.20045	.	0.636671	0.16840	N	0.197362	T	0.00012	0.0000	L	0.53249	1.67	0.09310	P	0.9999999260926	B	0.21905	0.062	B	0.30716	0.119	T	0.43845	-0.9366	9	0.66056	D	0.02	-0.5225	9.1613	0.37023	0.7244:0.0:0.2756:0.0	rs9346;rs1049822;rs3171228;rs52815417;rs58950417;rs9346	74	Q9NX31	CT111_HUMAN	G	74	ENSP00000255174:V74G;ENSP00000362061:V74G	ENSP00000255174:V74G	V	-	2	0	C20orf111	42259764	0.533000	0.26354	0.992000	0.48379	0.919000	0.55068	1.618000	0.36954	0.116000	0.18110	0.383000	0.25322	GTG	T|0.004;G|0.002	.	strong		0.423	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		C	42826350	A	C	42826350	3	2	23	1	0	0	0	0	1	0	0	0	2080	159	6	5	661	5	C20orf111	20	42826350	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	421	42826350	20199170	4589	21045										
C20orf111	51526	hgsc.bcm.edu	37	chr20	42826379	42826379	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtgaagacttccttgtagaCctaaagaggaaaaaaaatat	8	6	0	4	rs11274	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:42826379C>T	ENST00000372970.2	-	6	372	c.192G>A	c.(190-192)ggG>ggA	p.G64G	OSER1_ENST00000255174.2_Splice_Site_p.G64G			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	64					cellular response to hydrogen peroxide (GO:0070301)												TCCTTGTAGACCTAAAGAGGA	0.408													C|||	1916	0.382588	0.6346	0.1571	5008	,	,		22340	0.4782		0.1561	False		,,,				2504	0.3364				p.G64G		Atlas-SNP	.											.	C20orf111	28	.	0			c.G192A						PASS	.	C		2370,2036	589.2+/-387.1	648,1074,481	36	36	36		192	2	1	20	dbSNP_52	36	1276,7324	243.8+/-273.2	90,1096,3114	yes	coding-synonymous-near-splice	C20orf111	NM_016470.7		738,2170,3595	TT,TC,CC		14.8372,46.2097,28.0332		64/293	42826379	3646,9360	2203	4300	6503	SO:0001630	splice_region_variant	51526	exon4			TGTAGACCTAAAG	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.192-1G>A	20.37:g.42826379C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	24	24	1	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	CCDS13327.1																																																																																			C|0.685;N|0.000	.	strong		0.408	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	Silent	T	42826379	C	T	42826379	5	4	23	1	0	0	0	0	0	0	1	0	2080	521	18	2	690	2	C20orf111	20	42826379	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29	42826379	20199141	4590	21046										
RIMS4	140730	hgsc.bcm.edu	37	chr20	43386414	43386414	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agaccgatctccacatccccTggaagaggcaccaagagatg	10	13	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43386414T>A	ENST00000372851.3	-	4	416		c.e4-2		RIMS4_ENST00000541604.2_Splice_Site	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCACATCCCCTGGAAGAGGCA	0.562																																					.		Atlas-SNP	.											.	RIMS4	47	.	0			c.353-2A>T						PASS	.						83	69	74					20																	43386414		2203	4300	6503	SO:0001630	splice_region_variant	140730	exon5			ATCCCCTGGAAGA		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.350-2A>T	20.37:g.43386414T>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	26	0.325	NM_001205317	A4FU94|E1P613|Q3MI44|Q5JWT7	Splice_Site	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680306	0.68042	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIMS4	42819828	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	.	.	.	none		0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	Intron	A	43386414	T	A	43386414	5	1	23	1	0	0	0	0	0	0	1	0	13370	1594	55	5	473	5	RIMS4	20	43386414	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	560035	43386414	19639106	4591	21047										
PABPC1L	80336	hgsc.bcm.edu	37	chr20	43566787	43566787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctggagattgacaactcAgagctgttgctcatgctgga	12	9	2	3	rs11780	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43566787A>G	ENST00000217073.2	+	13	1731	c.1731A>G	c.(1729-1731)tcA>tcG	p.S577S	PABPC1L_ENST00000217075.2_Silent_p.S131S|PABPC1L_ENST00000372819.1_Silent_p.S131S|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_Silent_p.S131S|PABPC1L_ENST00000255136.3_Silent_p.S577S|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	577	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TTGACAACTCAGAGCTGTTGC	0.592													G|||	2237	0.446685	0.6619	0.464	5008	,	,		20232	0.3631		0.3708	False		,,,				2504	0.3078				p.S577S		Atlas-SNP	.											.	PABPC1L	59	.	0			c.A1731G						PASS	.	G		1952,1184		616,720,232	66	59	61		1731	-2.5	1	20	dbSNP_52	61	2621,4543		483,1655,1444	yes	coding-synonymous	PABPC1L	NM_001124756.1		1099,2375,1676	GG,GA,AA		36.5857,37.7551,44.3981		577/615	43566787	4573,5727	1568	3582	5150	SO:0001819	synonymous_variant	80336	exon13			CAACTCAGAGCTG	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1731A>G	20.37:g.43566787A>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	134	63	0.470149	NM_001124756	Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1	944	0.43223443223443225	310	0.6300813008130082	156	0.430939226519337	214	0.3741258741258741	264	0.3482849604221636	G	9.627	1.135406	0.21123	0.622449	0.365857	ENSG00000101104	ENST00000372821;ENST00000372826;ENST00000372822	.	.	.	4.72	-2.55	0.06288	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999627	.	.	.	.	.	.	T	0.41251	-0.9519	4	0.87932	D	0	.	2.7459	0.05267	0.4809:0.0918:0.2505:0.1768	rs11780;rs1132851;rs3171233;rs17406358;rs52822539;rs11780	.	.	.	R	159;113;100	.	ENSP00000361908:Q159R	Q	+	2	0	PABPC1L	43000201	0.000000	0.05858	0.990000	0.47175	0.981000	0.71138	-2.978000	0.00664	-0.298000	0.08921	-0.930000	0.02707	CAG	A|0.569;G|0.428	0.428	strong		0.592	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			G	43566787	A	G	43566787	2	3	23	1	0	0	0	0	0	0	0	1	11364	175	7	3		3	PABPC1L	20	43566787	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	180373	43566787	19458733	4592	21048										
PI3	5266	hgsc.bcm.edu	37	chr20	43803613	43803613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtgttcctcatcgctgggaCgctggttctagaggcagctg	15	10	2	1	rs17333103	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43803613C>T	ENST00000243924.3	+	1	97	c.50C>T	c.(49-51)aCg>aTg	p.T17M		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	17			T -> M (in dbSNP:rs17333103).		copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				ATCGCTGGGACGCTGGTTCTA	0.577													C|||	530	0.105831	0.1135	0.0879	5008	,	,		18324	0.0268		0.162	False		,,,				2504	0.1319				p.T17M		Atlas-SNP	.											PI3,caecum,carcinoma,0,2	PI3	21	2	0			c.C50T						PASS	.	C	MET/THR	554,3852	248.1+/-256.1	37,480,1686	178	134	149		50	-5.8	0	20	dbSNP_123	149	1508,7092	285.5+/-297.2	126,1256,2918	yes	missense	PI3	NM_002638.3	81	163,1736,4604	TT,TC,CC		17.5349,12.5738,15.8542	benign	17/118	43803613	2062,10944	2203	4300	6503	SO:0001583	missense	5266	exon1			CTGGGACGCTGGT	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.50C>T	20.37:g.43803613C>T	ENSP00000243924:p.Thr17Met	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	137	66	0.481752	NM_002638	E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	CCDS13344.1	241	0.11034798534798534	62	0.12601626016260162	39	0.10773480662983426	16	0.027972027972027972	124	0.16358839050131926	C	5.411	0.261014	0.10239	0.125738	0.175349	ENSG00000124102	ENST00000243924	T	0.26660	1.72	3.9	-5.75	0.02384	.	2.011240	0.02672	N	0.108649	T	0.00039	0.0001	N	0.04508	-0.205	0.80722	P	0.0	B	0.23442	0.085	B	0.17722	0.019	T	0.18493	-1.0335	9	0.25751	T	0.34	.	5.7959	0.18387	0.1302:0.3719:0.0:0.4979	rs17333103;rs52824552;rs59862067;rs17333103	17	P19957	ELAF_HUMAN	M	17	ENSP00000243924:T17M	ENSP00000243924:T17M	T	+	2	0	PI3	43237027	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.102000	0.01343	-1.099000	0.03034	-1.166000	0.01754	ACG	C|0.864;T|0.136	0.136	strong		0.577	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		T	43803613	C	T	43803613	3	4	23	1	0	0	0	0	1	0	0	0	11870	536	19	1	52	1	PI3	20	43803613	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	236826	43803613	19221907	4593	21049										
PI3	5266	hgsc.bcm.edu	37	chr20	43804522	43804522	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcctgttaaaggtcaagacActgtcaaaggccgtgttcca	9	10	2	1	rs2664581	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43804522A>C	ENST00000243924.3	+	2	147	c.100A>C	c.(100-102)Act>Cct	p.T34P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	34	2 X tandem repeats of SVP-1 like motif.		T -> P (in dbSNP:rs2664581).		copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AGGTCAAGACACTGTCAAAGG	0.453													A|||	537	0.107228	0.1127	0.0951	5008	,	,		21020	0.0268		0.167	False		,,,				2504	0.1299				p.T34P		Atlas-SNP	.											.	PI3	21	.	0			c.A100C						PASS	.	A	PRO/THR	560,3846	247.5+/-255.7	37,486,1680	106	98	101		100	-5.1	0	20	dbSNP_100	101	1581,7019	290.8+/-300.0	134,1313,2853	yes	missense	PI3	NM_002638.3	38	171,1799,4533	CC,CA,AA		18.3837,12.7099,16.4616	benign	34/118	43804522	2141,10865	2203	4300	6503	SO:0001583	missense	5266	exon2			CAAGACACTGTCA	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.100A>C	20.37:g.43804522A>C	ENSP00000243924:p.Thr34Pro	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	125	52	0.416	NM_002638	E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	CCDS13344.1	245	0.11217948717948718	62	0.12601626016260162	42	0.11602209944751381	16	0.027972027972027972	125	0.16490765171503957	A	7.273	0.607461	0.14002	0.127099	0.183837	ENSG00000124102	ENST00000243924	T	0.41065	1.01	3.6	-5.09	0.02920	.	1.319810	0.05350	N	0.531676	T	0.00039	0.0001	L	0.38175	1.15	0.80722	P	0.0	B	0.16603	0.018	B	0.15052	0.012	T	0.19418	-1.0306	9	0.09843	T	0.71	.	0.7426	0.00976	0.2732:0.1441:0.3241:0.2587	rs2664581;rs17333320;rs57162342;rs2664581	34	P19957	ELAF_HUMAN	P	34	ENSP00000243924:T34P	ENSP00000243924:T34P	T	+	1	0	PI3	43237936	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-2.385000	0.01062	-1.163000	0.02793	0.533000	0.62120	ACT	A|0.862;C|0.138	0.138	strong		0.453	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		C	43804522	A	C	43804522	3	2	23	1	0	0	0	0	1	0	0	0	11870	159	6	5	106	5	PI3	20	43804522	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	909	43804522	19220998	4594	21050										
SEMG1	6406	hgsc.bcm.edu	37	chr20	43836173	43836173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgccaatgatcatgaccagTcccgaaaaagtcagcaatat	7	10	2	2	rs2301366	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43836173T>A	ENST00000372781.3	+	2	292	c.235T>A	c.(235-237)Tcc>Acc	p.S79T	SEMG1_ENST00000244069.6_Missense_Mutation_p.S79T	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	79	Repeat-rich region. {ECO:0000250}.		S -> T (less common genetic variant; dbSNP:rs2301366). {ECO:0000269|PubMed:14562960, ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S79T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCATGACCAGTCCCGAAAAAG	0.388													A|||	1407	0.28095	0.5446	0.3256	5008	,	,		20945	0.0913		0.1988	False		,,,				2504	0.1728				p.S79T		Atlas-SNP	.											SEMG1,NS,carcinoma,-2,3	SEMG1	71	3	1	Substitution - Missense(1)	stomach(1)	c.T235A						PASS	.	A	THR/SER	2084,2322	603.9+/-390.2	510,1064,629	147	134	139		235	0	0	20	dbSNP_100	139	1827,6773	731.5+/-406.8	187,1453,2660	yes	missense	SEMG1	NM_003007.3	58	697,2517,3289	AA,AT,TT		21.2442,47.2991,30.0707		79/463	43836173	3911,9095	2203	4300	6503	SO:0001583	missense	6406	exon2			GACCAGTCCCGAA		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.235T>A	20.37:g.43836173T>A	ENSP00000361867:p.Ser79Thr	Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	248	117	0.471774	NM_003007	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	563	0.25778388278388276	251	0.5101626016260162	102	0.281767955801105	61	0.10664335664335664	149	0.19656992084432717	A	0.005	-2.180094	0.00308	0.472991	0.212442	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.03553	3.89;3.89	1.3	-0.029	0.13920	.	.	.	.	.	T	0.00012	0.0000	N	0.00036	-2.535	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38045	-0.9679	8	0.02654	T	1	.	2.1602	0.03823	0.4149:0.2948:0.0:0.2903	rs2301366;rs2301366	79;79;79	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	T	79	ENSP00000244069:S79T;ENSP00000361867:S79T	ENSP00000244069:S79T	S	+	1	0	SEMG1	43269587	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.543000	0.06240	-0.375000	0.07067	TCC	T|0.724;A|0.276	0.276	strong		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		A	43836173	T	A	43836173	3	1	23	1	0	0	0	0	1	0	0	0	14044	1667	58	5	241	5	SEMG1	20	43836173	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	31651	43836173	19189347	4595	21051										
SEMG2	6407	hgsc.bcm.edu	37	chr20	43850400	43850400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcccaatttccacatggaCaaaagggccagcactatttt	6	12	0	0	rs2233896	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43850400C>A	ENST00000372769.3	+	2	217	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	43			Q -> K (in dbSNP:rs2233896).		sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCCACATGGACAAAAGGGCCA	0.378													C|||	497	0.0992412	0.0885	0.0922	5008	,	,		20685	0.0317		0.161	False		,,,				2504	0.1247				p.Q43K		Atlas-SNP	.											SEMG2,caecum,carcinoma,0,1	SEMG2	92	1	0			c.C127A						PASS	.	C	LYS/GLN	472,3934	218.7+/-236.7	29,414,1760	109	106	107		127	-3.8	0	20	dbSNP_98	107	1515,7085	282.7+/-295.7	122,1271,2907	yes	missense	SEMG2	NM_003008.2	53	151,1685,4667	AA,AC,CC		17.6163,10.7127,15.2776	benign	43/583	43850400	1987,11019	2203	4300	6503	SO:0001583	missense	6407	exon2			CATGGACAAAAGG		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.127C>A	20.37:g.43850400C>A	ENSP00000361855:p.Gln43Lys	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	198	79	0.39899	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	222	0.10164835164835165	42	0.08536585365853659	40	0.11049723756906077	20	0.03496503496503497	120	0.158311345646438	C	6.356	0.433764	0.12045	0.107127	0.176163	ENSG00000124157	ENST00000372769	T	0.06849	3.25	1.88	-3.76	0.04359	.	.	.	.	.	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	B;B	0.26935	0.164;0.164	B;B	0.32211	0.098;0.142	T	0.43130	-0.9410	8	0.30854	T	0.27	.	0.7148	0.00930	0.3117:0.3251:0.2058:0.1573	rs2233896;rs52807159;rs2233896	43;43	A8K6Z6;Q02383	.;SEMG2_HUMAN	K	43	ENSP00000361855:Q43K	ENSP00000361855:Q43K	Q	+	1	0	SEMG2	43283814	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.632000	0.02024	-1.111000	0.02988	-0.474000	0.04947	CAA	C|0.876;A|0.124	0.124	strong		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43850400	C	A	43850400	3	1	23	1	0	0	0	0	1	0	0	0	14045	479	17	4	133	4	SEMG2	20	43850400	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14227	43850400	19175120	4596	21052										
MATN4	8785	hgsc.bcm.edu	37	chr20	43933163	43933163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acgttcatggcgtactggatTgccagtcccgtcatggtgcc	12	12	2	0	rs2233094	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:43933163T>C	ENST00000372754.1	-	2	356	c.348A>G	c.(346-348)gcA>gcG	p.A116A	MATN4_ENST00000353917.5_Silent_p.A116A|MATN4_ENST00000372756.1_Silent_p.A116A|MATN4_ENST00000537548.1_Silent_p.A116A|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000342716.4_Silent_p.A116A|MATN4_ENST00000360607.6_Silent_p.A116A|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	116	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGTACTGGATTGCCAGTCCCG	0.687													T|||	2021	0.403554	0.2239	0.3444	5008	,	,		16128	0.755		0.2634	False		,,,				2504	0.4703				p.A116A		Atlas-SNP	.											MATN4,NS,carcinoma,0,1	MATN4	57	1	0			c.A348G						PASS	.	T	,,	985,3411		120,745,1333	19	16	17		348,348,348	-9.6	0.1	20	dbSNP_98	17	2373,6207		337,1699,2254	no	coding-synonymous,coding-synonymous,coding-synonymous	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	,,	457,2444,3587	CC,CT,TT		27.6573,22.4067,25.8785	,,	116/582,116/541,116/500	43933163	3358,9618	2198	4290	6488	SO:0001819	synonymous_variant	8785	exon3			CTGGATTGCCAGT	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.348A>G	20.37:g.43933163T>C		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	77	19	0.246753	NM_030592	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37																																																																																				T|0.676;C|0.324	0.324	strong		0.687	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			C	43933163	T	C	43933163	2	2	23	1	0	0	0	0	0	0	0	1	9336	1799	63	2		2	MATN4	20	43933163	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	82763	43933163	19092357	4597	21053										
TP53TG5	27296	hgsc.bcm.edu	37	chr20	44005936	44005936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tatgcagttcttggatccggCggtttgagctcttgagtagc	13	8	2	2	rs2231616	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44005936C>T	ENST00000372726.3	-	3	326	c.170G>A	c.(169-171)cGc>cAc	p.R57H	TP53TG5_ENST00000537995.1_Missense_Mutation_p.R41H|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	57			R -> H (in dbSNP:rs2231616).		intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TTGGATCCGGCGGTTTGAGCT	0.502													C|||	1008	0.201278	0.0696	0.2579	5008	,	,		18364	0.2897		0.1123	False		,,,				2504	0.3395				p.R57H		Atlas-SNP	.											.	TP53TG5	36	.	0			c.G170A						PASS	.	C	HIS/ARG	429,3977	208.8+/-229.8	25,379,1799	175	168	170		170	-2.1	0	20	dbSNP_98	170	1122,7478	233.2+/-266.6	69,984,3247	yes	missense	TP53TG5	NM_014477.2	29	94,1363,5046	TT,TC,CC		13.0465,9.7367,11.9253	possibly-damaging	57/291	44005936	1551,11455	2203	4300	6503	SO:0001583	missense	27296	exon3			ATCCGGCGGTTTG	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.170G>A	20.37:g.44005936C>T	ENSP00000361811:p.Arg57His	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	81	79	0.975309	NM_014477		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	338	0.15476190476190477	32	0.06504065040650407	73	0.20165745856353592	144	0.2517482517482518	89	0.11741424802110818	C	10.75	1.438782	0.25900	0.097367	0.130465	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.14022	2.54;2.54	5.52	-2.06	0.07298	.	0.660669	0.14744	N	0.301018	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.22276	0.067	B	0.12837	0.008	T	0.42565	-0.9444	9	0.36615	T	0.2	-0.0354	9.6207	0.39719	0.0:0.4882:0.317:0.1948	rs2231616;rs3746590;rs57771799;rs2231616	57	Q9Y2B4	T53G5_HUMAN	H	57;41	ENSP00000361811:R57H;ENSP00000438374:R41H	ENSP00000361811:R57H	R	-	2	0	TP53TG5	43439350	0.015000	0.18098	0.007000	0.13788	0.771000	0.43674	-1.108000	0.03313	-0.161000	0.10983	-0.176000	0.13171	CGC	C|0.863;T|0.137	0.137	strong		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		T	44005936	C	T	44005936	3	4	23	1	0	0	0	0	1	0	0	0	16388	768	27	1	714	1	TP53TG5	20	44005936	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	72773	44005936	19019584	4598	21054										
ACOT8	10005	hgsc.bcm.edu	37	chr20	44483868	44483868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagacttggctgcagccacCagggcctggcccacgatctg	12	15	1	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44483868C>T	ENST00000217455.4	-	2	282	c.192G>A	c.(190-192)ctG>ctA	p.L64L	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	64					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTGCAGCCACCAGGGCCTGGC	0.587																																					p.L64L		Atlas-SNP	.											ACOT8,NS,carcinoma,-2,1	ACOT8	29	1	0			c.G192A						scavenged	.						110	105	106					20																	44483868		2203	4300	6503	SO:0001819	synonymous_variant	10005	exon2			AGCCACCAGGGCC	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.192G>A	20.37:g.44483868C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	55	2	0.0363636	NM_005469	O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.844|9.844	1.191853|1.191853	0.21954|0.21954	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000457981|ENST00000487205	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|.	.|.	.|.	.|.	T|.	0.74374|.	0.3708|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73414|.	-0.3990|.	4|.	.|.	.|.	.|.	.|.	18.4349|18.4349	0.90642|0.90642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	25|19	.|.	.|.	G|W	-|-	1|2	0|0	ACOT8|ACOT8	43917275|43917275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.025000|2.025000	0.41059|0.41059	2.588000|2.588000	0.87417|0.87417	0.561000|0.561000	0.74099|0.74099	GGT|TGG	.	.	none		0.587	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		T	44483868	C	T	44483868	2	4	23	1	0	0	0	0	0	0	0	1	156	581	21	2		2	ACOT8	20	44483868	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	477932	44483868	18541652	4599	21055										
ZSWIM1	90204	hgsc.bcm.edu	37	chr20	44511627	44511627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccagatgttccaagtattCaagaagtttaatccagcatg	8	9	1	2	rs11086984	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44511627C>T	ENST00000372523.1	+	2	491	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ZSWIM1_ENST00000372520.1_Silent_p.F132F	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	132						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAAGTATTCAAGAAGTTTA	0.542													C|||	210	0.0419329	0.0227	0.0735	5008	,	,		21210	0.001		0.1064	False		,,,				2504	0.0215				p.F132F		Atlas-SNP	.											.	ZSWIM1	35	.	0			c.C396T						PASS	.	C		181,4225	116.7+/-154.6	5,171,2027	112	103	106		396	4.4	1	20	dbSNP_120	106	896,7704	200.3+/-244.1	49,798,3453	no	coding-synonymous	ZSWIM1	NM_080603.4		54,969,5480	TT,TC,CC		10.4186,4.108,8.2808		132/486	44511627	1077,11929	2203	4300	6503	SO:0001819	synonymous_variant	90204	exon2			AGTATTCAAGAAG	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.396C>T	20.37:g.44511627C>T		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	248	124	0.5	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	ENST00000372523.1	37	CCDS13382.2																																																																																			C|0.930;T|0.070	0.070	strong		0.542	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		T	44511627	C	T	44511627	2	4	23	1	0	0	0	0	0	0	0	1	18237	825	29	2		2	ZSWIM1	20	44511627	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27759	44511627	18513893	4600	21056										
PCIF1	63935	hgsc.bcm.edu	37	chr20	44575932	44575932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagctcaccggagcccctgTccttcatcgtgttcatccct	8	16	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44575932T>C	ENST00000372409.3	+	16	2102	c.1738T>C	c.(1738-1740)Tcc>Ccc	p.S580P	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	580					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGAGCCCCTGTCCTTCATCGT	0.622																																					p.S580P		Atlas-SNP	.											.	PCIF1	51	.	0			c.T1738C						PASS	.						79	81	80					20																	44575932		2203	4300	6503	SO:0001583	missense	63935	exon16			CCCCTGTCCTTCA	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1738T>C	20.37:g.44575932T>C	ENSP00000361486:p.Ser580Pro	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	104	6	0.0576923	NM_022104	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371687	0.82573	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.03	5.03	0.67393	Phosphorylated CTD interacting factor 1, WW domain (1);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87621	0.2510	9	0.72032	D	0.01	-30.1299	14.0902	0.64984	0.0:0.0:0.0:1.0	.	580;580	B7Z5U5;Q9H4Z3	.;PCIF1_HUMAN	P	580	.	ENSP00000361486:S580P	S	+	1	0	PCIF1	44009339	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.925000	0.70062	2.114000	0.64651	0.374000	0.22700	TCC	.	.	none		0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		C	44575932	T	C	44575932	3	2	23	1	0	0	0	0	1	0	0	0	11580	1667	58	2	1792	2	PCIF1	20	44575932	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	64305	44575932	18449588	4601	21057										
ZNF335	63925	hgsc.bcm.edu	37	chr20	44596545	44596545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggggcagctgcaccggggaGctgggcccaccctgtgcctc	17	15	0	0	rs3848719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44596545G>A	ENST00000322927.2	-	5	742	c.642C>T	c.(640-642)agC>agT	p.S214S	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Silent_p.S59S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	214					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACCGGGGAGCTGGGCCCAC	0.652													G|||	930	0.185703	0.0749	0.3084	5008	,	,		17763	0.0		0.4254	False		,,,				2504	0.1933				p.S214S		Atlas-SNP	.											ZNF335,NS,carcinoma,0,1	ZNF335	115	1	0			c.C642T						PASS	.	G		645,3761		54,537,1612	32	35	34		642	3.4	0.9	20	dbSNP_108	34	3695,4903		789,2117,1393	no	coding-synonymous	ZNF335	NM_022095.3		843,2654,3005	AA,AG,GG		42.9751,14.6391,33.3743		214/1343	44596545	4340,8664	2203	4299	6502	SO:0001819	synonymous_variant	63925	exon5			CGGGGAGCTGGGC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.642C>T	20.37:g.44596545G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	119	53	0.445378	NM_022095	B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	CCDS13389.1																																																																																			G|0.728;A|0.272	0.272	strong		0.652	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		A	44596545	G	A	44596545	2	1	23	1	0	0	0	0	0	0	0	1	17849	962	34	2		2	ZNF335	20	44596545	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	20613	44596545	18428975	4602	21058										
MMP9	4318	hgsc.bcm.edu	37	chr20	44642833	44642833	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggacaagctgggcctgggAgccgacgtggcccaggtgac	17	12	0	1	rs13969	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44642833A>C	ENST00000372330.3	+	11	1840	c.1821A>C	c.(1819-1821)ggA>ggC	p.G607G	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	607					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TGGGCCTGGGAGCCGACGTGG	0.736											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2033	0.40595	0.407	0.4669	5008	,	,		13583	0.2292		0.5855	False		,,,				2504	0.3589				p.G607G		Atlas-SNP	.											.	MMP9	84	.	0			c.A1821C						PASS	.	C		1860,1782		544,772,505	3	4	4		1821	1.9	0.5	20	dbSNP_52	4	4661,2573		1627,1407,583	no	coding-synonymous	MMP9	NM_004994.2		2171,2179,1088	CC,CA,AA		35.5682,48.9292,40.0423		607/708	44642833	6521,4355	1821	3617	5438	SO:0001819	synonymous_variant	4318	exon11			CCTGGGAGCCGAC		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1821A>C	20.37:g.44642833A>C		Somatic	45	0	0	925	WXS	Illumina HiSeq	Phase_I	8	8	1	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																			A|0.580;C|0.420	0.420	strong		0.736	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			C	44642833	A	C	44642833	2	2	23	1	0	0	0	0	0	0	0	1	9669	291	11	5		5	MMP9	20	44642833	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	46288	44642833	18382687	4603	21059										
SLC12A5	57468	hgsc.bcm.edu	37	chr20	44680412	44680412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgtcccatctgatccagtcCgggggcctcggggggctgca	16	13	1	1	rs3746522	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:44680412C>T	ENST00000454036.2	+	18	2398	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	SLC12A5_ENST00000243964.3_Silent_p.S760S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	783					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGATCCAGTCCGGGGGCCTCG	0.592													C|||	866	0.172923	0.0121	0.1816	5008	,	,		13847	0.3393		0.2197	False		,,,				2504	0.1646				p.S783S		Atlas-SNP	.											SLC12A5,caecum,carcinoma,0,1	SLC12A5	181	1	0			c.C2349T						PASS	.	C	,	193,4213	120.0+/-157.7	6,181,2016	86	83	84		2349,2280	-8.4	0.8	20	dbSNP_107	84	1978,6622	347.9+/-326.8	223,1532,2545	no	coding-synonymous,coding-synonymous	SLC12A5	NM_001134771.1,NM_020708.4	,	229,1713,4561	TT,TC,CC		23.0,4.3804,16.6923	,	783/1140,760/1117	44680412	2171,10835	2203	4300	6503	SO:0001819	synonymous_variant	57468	exon18			CCAGTCCGGGGGC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2349C>T	20.37:g.44680412C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	88	46	0.522727	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																			C|0.824;T|0.176	0.176	strong		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44680412	C	T	44680412	2	4	23	1	0	0	0	0	0	0	0	1	14386	639	23	1		1	SLC12A5	20	44680412	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	37579	44680412	18345108	4604	21060										
EYA2	2139	hgsc.bcm.edu	37	chr20	45717954	45717954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggccgcaccgggcctccgaCgggaagctccgaggccggtc	16	16	0	0	rs866937	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:45717954C>T	ENST00000327619.5	+	8	1112	c.738C>T	c.(736-738)gaC>gaT	p.D246D	EYA2_ENST00000357410.3_Silent_p.D246D|EYA2_ENST00000317304.6_Silent_p.D246D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	246					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGGCCTCCGACGGGAAGCTCC	0.582													C|||	1262	0.251997	0.1445	0.3329	5008	,	,		18244	0.253		0.2575	False		,,,				2504	0.3333				p.D246D	Pancreas(120;56 1725 18501 25218 43520)	Atlas-SNP	.											.	EYA2	85	.	0			c.C738T						PASS	.	C	,	719,3687	299.8+/-286.0	60,599,1544	74	75	75		738,738	-4.2	0.9	20	dbSNP_86	75	2328,6272	390.8+/-343.4	320,1688,2292	no	coding-synonymous,coding-synonymous	EYA2	NM_005244.4,NM_172110.3	,	380,2287,3836	TT,TC,CC		27.0698,16.3187,23.4276	,	246/539,246/460	45717954	3047,9959	2203	4300	6503	SO:0001819	synonymous_variant	2139	exon8			CTCCGACGGGAAG		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.738C>T	20.37:g.45717954C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	121	51	0.421488	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																			C|0.768;T|0.232	0.232	strong		0.582	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		T	45717954	C	T	45717954	2	4	23	1	0	0	0	0	0	0	0	1	5329	535	19	1		1	EYA2	20	45717954	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1037542	45717954	17307566	4605	21061										
PTGIS	5740	hgsc.bcm.edu	37	chr20	48140682	48140682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgcagcaggtaactctcCagccatttgctccggtgggc	13	12	1	0	rs5628	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:48140682C>T	ENST00000244043.4	-	6	797	c.768G>A	c.(766-768)ctG>ctA	p.L256L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	256					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.L256L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GGTAACTCTCCAGCCATTTGC	0.627													C|||	620	0.123802	0.2027	0.121	5008	,	,		19573	0.1002		0.0646	False		,,,				2504	0.1043				p.L256L		Atlas-SNP	.											PTGIS,NS,carcinoma,0,1	PTGIS	60	1	1	Substitution - coding silent(1)	stomach(1)	c.G768A						PASS	.	C		679,3727	286.0+/-278.5	48,583,1572	127	105	113		768	4.3	1	20	dbSNP_52	113	525,8075	147.4+/-202.8	11,503,3786	no	coding-synonymous	PTGIS	NM_000961.3		59,1086,5358	TT,TC,CC		6.1047,15.4108,9.2573		256/501	48140682	1204,11802	2203	4300	6503	SO:0001819	synonymous_variant	5740	exon6			ACTCTCCAGCCAT		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.768G>A	20.37:g.48140682C>T		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	195	90	0.461538	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	CCDS13419.1																																																																																			C|0.897;T|0.103	0.103	strong		0.627	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			T	48140682	C	T	48140682	2	4	23	1	0	0	0	0	0	0	0	1	12752	581	21	2		2	PTGIS	20	48140682	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2422728	48140682	14884838	4606	21062										
SPATA2	9825	hgsc.bcm.edu	37	chr20	48524827	48524827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggagctctccaccacctcAtagaactggatcagccggaa	9	13	3	1	rs2769982	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:48524827A>G	ENST00000422556.1	-	2	550	c.201T>C	c.(199-201)taT>taC	p.Y67Y	SPATA2_ENST00000289431.5_Silent_p.Y67Y|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	67					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCACCACCTCATAGAACTGGA	0.622													G|||	2458	0.490815	0.1316	0.585	5008	,	,		19272	0.7738		0.4503	False		,,,				2504	0.6595				p.Y67Y		Atlas-SNP	.											.	SPATA2	36	.	0			c.T201C						PASS	.	G	,	844,3562	745.8+/-411.7	78,688,1437	79	67	71		201,201	-6.8	0.7	20	dbSNP_100	71	3968,4632	600.7+/-394.3	911,2146,1243	no	coding-synonymous,coding-synonymous	SPATA2	NM_001135773.1,NM_006038.3	,	989,2834,2680	GG,GA,AA		46.1395,19.1557,36.9983	,	67/521,67/521	48524827	4812,8194	2203	4300	6503	SO:0001819	synonymous_variant	9825	exon2			CACCTCATAGAAC	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.201T>C	20.37:g.48524827A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	124	55	0.443548	NM_006038	E1P626|O94857	Silent	SNP	ENST00000422556.1	37	CCDS13422.1																																																																																			A|0.584;G|0.416	0.416	strong		0.622	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		G	48524827	A	G	48524827	2	3	23	1	0	0	0	0	0	0	0	1	15004	224	8	2		2	SPATA2	20	48524827	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	384145	48524827	14500693	4607	21063										
ADNP	23394	hgsc.bcm.edu	37	chr20	49509184	49509184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccattttgggtctttccaacGcccctgcagtgaactagatg	9	12	1	2	rs17790938	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:49509184G>A	ENST00000396029.3	-	5	2634	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	ADNP_ENST00000396032.3_Silent_p.G689G|ADNP_ENST00000349014.3_Silent_p.G689G|ADNP_ENST00000371602.4_Silent_p.G689G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	689					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTTTCCAACGCCCCTGCAGT	0.483													A|||	523	0.104433	0.171	0.0648	5008	,	,		20035	0.0992		0.0656	False		,,,				2504	0.0879				p.G689G		Atlas-SNP	.											.	ADNP	106	.	0			c.C2067T						PASS	.	A	,	557,3849	775.1+/-414.1	34,489,1680	133	118	123		2067,2067	-2.4	0.9	20	dbSNP_123	123	677,7923	788.8+/-407.6	26,625,3649	no	coding-synonymous,coding-synonymous	ADNP	NM_015339.2,NM_181442.1	,	60,1114,5329	AA,AG,GG		7.8721,12.6419,9.4879	,	689/1103,689/1103	49509184	1234,11772	2203	4300	6503	SO:0001819	synonymous_variant	23394	exon5			TCCAACGCCCCTG	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2067C>T	20.37:g.49509184G>A		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	160	82	0.5125	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																			G|0.899;A|0.100	0.100	strong		0.483	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		A	49509184	G	A	49509184	2	1	23	1	0	0	0	0	0	0	0	1	323	1074	38	1		1	ADNP	20	49509184	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	984357	49509184	13516336	4608	21064										
NFATC2	4773	hgsc.bcm.edu	37	chr20	50140627	50140627	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtccggagggtgggctggcGaccttatgtgcattcggctc	17	10	0	0	rs3746420	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:50140627G>C	ENST00000396009.3	-	2	372	c.153C>G	c.(151-153)gtC>gtG	p.V51V	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000371564.3_Silent_p.V51V|NFATC2_ENST00000414705.1_Silent_p.V31V|NFATC2_ENST00000609943.1_Silent_p.V31V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	51					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGGGCTGGCGACCTTATGTG	0.587													G|||	299	0.0597045	0.0507	0.0447	5008	,	,		13783	0.0734		0.0606	False		,,,				2504	0.0675				p.V51V		Atlas-SNP	.											.	NFATC2	112	.	0			c.C153G						PASS	.	G	,,	177,4227	106.0+/-144.5	5,167,2030	46	54	51		93,153,153	2.1	0.9	20	dbSNP_107	51	493,8105	137.8+/-194.7	17,459,3823	no	coding-synonymous,coding-synonymous,coding-synonymous	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	,,	22,626,5853	CC,CG,GG		5.7339,4.0191,5.1531	,,	31/902,51/922,51/926	50140627	670,12332	2202	4299	6501	SO:0001819	synonymous_variant	4773	exon2			GCTGGCGACCTTA	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.153C>G	20.37:g.50140627G>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	77	46	0.597403	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	CCDS13437.1																																																																																			G|0.939;C|0.061	0.061	strong		0.587	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		C	50140627	G	C	50140627	2	2	23	1	0	0	0	0	0	0	0	1	10362	1045	37	4		4	NFATC2	20	50140627	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	631443	50140627	12884893	4609	21065										
ATP9A	10079	hgsc.bcm.edu	37	chr20	50346491	50346491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggcctggcctcccctccaCcgcagcatctcagccactcg	10	20	1	0	rs142435125	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:50346491C>A	ENST00000338821.5	-	2	359	c.95G>T	c.(94-96)gGt>gTt	p.G32V	ATP9A_ENST00000402822.1_Missense_Mutation_p.G32V|ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.G17V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	32					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCCCCTCCACCGCAGCATCT	0.597													C|||	30	0.00599042	0.0	0.0014	5008	,	,		17873	0.0		0.003	False		,,,				2504	0.0266				p.G32V		Atlas-SNP	.											.	ATP9A	135	.	0			c.G95T						PASS	.	C	VAL/GLY	3,4403	6.2+/-15.9	0,3,2200	90	85	87		95	5.3	1	20	dbSNP_134	87	36,8564	24.6+/-71.5	0,36,4264	yes	missense	ATP9A	NM_006045.1	109	0,39,6464	AA,AC,CC		0.4186,0.0681,0.2999	benign	32/1048	50346491	39,12967	2203	4300	6503	SO:0001583	missense	10079	exon2			CCTCCACCGCAGC	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.95G>T	20.37:g.50346491C>A	ENSP00000342481:p.Gly32Val	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	57	27	0.473684	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	18.40	3.615508	0.66672	6.81E-4	0.004186	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.54071	0.59;0.59;0.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.43152	1.355	0.58432	D	0.999996	B;P	0.36789	0.073;0.57	B;B	0.39805	0.31;0.147	T	0.53995	-0.8359	10	0.51188	T	0.08	-14.3884	19.2362	0.93861	0.0:1.0:0.0:0.0	.	32;32	O75110-2;O75110	.;ATP9A_HUMAN	V	17;32;32	ENSP00000309086:G17V;ENSP00000342481:G32V;ENSP00000385875:G32V	ENSP00000309086:G17V	G	-	2	0	ATP9A	49779898	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.257000	0.78362	2.608000	0.88229	0.563000	0.77884	GGT	C|0.997;A|0.003	0.003	strong		0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		A	50346491	C	A	50346491	3	1	23	1	0	0	0	0	1	0	0	0	1198	507	18	4	3156	4	ATP9A	20	50346491	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	205864	50346491	12679029	4610	21066										
SALL4	57167	hgsc.bcm.edu	37	chr20	50407255	50407255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactggaacggtctctccccGgtgtgggtgcgataatgcat	13	11	1	0	rs201329321		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:50407255G>A	ENST00000217086.4	-	2	1878	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	589					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCTCTCCCCGGTGTGGGTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.001		0.0	False		,,,				2504	0.0				p.T589T		Atlas-SNP	.											.	SALL4	168	.	0			c.C1767T						PASS	.						93	82	86					20																	50407255		2203	4300	6503	SO:0001819	synonymous_variant	57167	exon2			CTCCCCGGTGTGG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1767C>T	20.37:g.50407255G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	168	50	0.297619	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																			G|1.000;A|0.000	0.000	strong		0.507	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50407255	G	A	50407255	2	1	23	1	0	0	0	0	0	0	0	1	13813	1103	39	1		1	SALL4	20	50407255	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60764	50407255	12618265	4611	21067										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52192595	52192595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgcagtattgctggcactcCgattacagaaatagtctctt	8	10	1	1	rs61748378	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:52192595C>T	ENST00000371471.2	-	4	3133	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.R903Q			O75362	ZN217_HUMAN	zinc finger protein 217	903					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCTGGCACTCCGATTACAGAA	0.562													C|||	57	0.0113818	0.0008	0.0231	5008	,	,		18605	0.0		0.0368	False		,,,				2504	0.0031				p.R903Q		Atlas-SNP	.											.	ZNF217	227	.	0			c.G2708A						PASS	.	C	GLN/ARG	36,4370	40.8+/-73.8	0,36,2167	63	61	62		2708	5.3	0.1	20	dbSNP_129	62	340,8260	117.6+/-177.1	6,328,3966	yes	missense	ZNF217	NM_006526.2	43	6,364,6133	TT,TC,CC		3.9535,0.8171,2.891	probably-damaging	903/1049	52192595	376,12630	2203	4300	6503	SO:0001583	missense	7764	exon3			GCACTCCGATTAC	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2708G>A	20.37:g.52192595C>T	ENSP00000360526:p.Arg903Gln	Somatic	197	1	0.00507614		WXS	Illumina HiSeq	Phase_I	157	82	0.522293	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	40	0.018315018315018316	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	29	0.03825857519788918	C	15.18	2.755994	0.49362	0.008171	0.039535	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000395971	T;T	0.13196	2.61;2.61	5.26	5.26	0.73747	.	0.510022	0.19366	N	0.116007	T	0.02267	0.0070	L	0.39147	1.195	0.09310	N	0.999997	P	0.43938	0.822	B	0.32342	0.144	T	0.17531	-1.0366	10	0.87932	D	0	-20.7069	13.2311	0.59945	0.0:0.9214:0.0:0.0786	rs61748378	903	O75362	ZN217_HUMAN	Q	903;903;63	ENSP00000360526:R903Q;ENSP00000304308:R903Q	ENSP00000304308:R903Q	R	-	2	0	ZNF217	51626002	0.953000	0.32496	0.078000	0.20375	0.006000	0.05464	2.935000	0.48963	2.450000	0.82876	0.650000	0.86243	CGG	C|0.976;T|0.024	0.024	strong		0.562	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		T	52192595	C	T	52192595	3	4	23	1	0	0	0	0	1	0	0	0	17769	652	23	1	446	1	ZNF217	20	52192595	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1785340	52192595	10832925	4612	21068										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52192637	52192637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccggaggtgcccacgggctgTcgttcttggcggggtagtcg	18	11	1	0	rs34323943	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:52192637T>C	ENST00000371471.2	-	4	3091	c.2666A>G	c.(2665-2667)gAc>gGc	p.D889G	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.D889G			O75362	ZN217_HUMAN	zinc finger protein 217	889			D -> G (in dbSNP:rs34323943).		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCACGGGCTGTCGTTCTTGGC	0.527													T|||	435	0.086861	0.0023	0.0951	5008	,	,		18538	0.0833		0.1203	False		,,,				2504	0.1646				p.D889G		Atlas-SNP	.											.	ZNF217	227	.	0			c.A2666G						PASS	.	T	GLY/ASP	103,4303	80.4+/-118.8	1,101,2101	74	70	71		2666	3.9	0	20	dbSNP_126	71	1043,7557	218.1+/-256.6	58,927,3315	yes	missense	ZNF217	NM_006526.2	94	59,1028,5416	CC,CT,TT		12.1279,2.3377,8.8113	benign	889/1049	52192637	1146,11860	2203	4300	6503	SO:0001583	missense	7764	exon3			GGGCTGTCGTTCT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2666A>G	20.37:g.52192637T>C	ENSP00000360526:p.Asp889Gly	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	143	84	0.587413	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	161	0.07371794871794872	5	0.01016260162601626	39	0.10773480662983426	33	0.057692307692307696	84	0.11081794195250659	T	8.423	0.846730	0.16963	0.023377	0.121279	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000395971	T;T	0.08102	3.13;3.13	5.06	3.94	0.45596	.	1.338930	0.04449	N	0.372289	T	0.00178	0.0005	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39014	-0.9634	10	0.66056	D	0.02	-17.0378	11.513	0.50504	0.0:0.0:0.4757:0.5243	rs34323943	889	O75362	ZN217_HUMAN	G	889;889;49	ENSP00000360526:D889G;ENSP00000304308:D889G	ENSP00000304308:D889G	D	-	2	0	ZNF217	51626044	0.003000	0.15002	0.003000	0.11579	0.011000	0.07611	1.316000	0.33620	0.741000	0.32674	0.528000	0.53228	GAC	T|0.918;C|0.082;A|0.000	0.082	strong		0.527	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		C	52192637	T	C	52192637	3	2	23	1	0	0	0	0	1	0	0	0	17769	1667	58	2	488	2	ZNF217	20	52192637	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	42	52192637	10832883	4613	21069										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52193088	52193088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtttcgacagtttttatgaaCgtcaggattgtatttatgct	9	5	1	1	rs6063966	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:52193088C>T	ENST00000371471.2	-	4	2640	c.2215G>A	c.(2215-2217)Gtt>Att	p.V739I	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.V739I			O75362	ZN217_HUMAN	zinc finger protein 217	739			V -> I (in dbSNP:rs6063966).		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V739I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTTTATGAACGTCAGGATTG	0.438													C|||	785	0.156749	0.2602	0.1066	5008	,	,		19555	0.0833		0.1203	False		,,,				2504	0.1656				p.V739I		Atlas-SNP	.											ZNF217,NS,carcinoma,0,1	ZNF217	227	1	1	Substitution - Missense(1)	stomach(1)	c.G2215A						scavenged	.	C	ILE/VAL	931,3475	356.4+/-313.5	107,717,1379	75	77	76		2215	-9.8	0	20	dbSNP_114	76	1060,7540	224.1+/-260.6	59,942,3299	yes	missense	ZNF217	NM_006526.2	29	166,1659,4678	TT,TC,CC		12.3256,21.1303,15.3083	benign	739/1049	52193088	1991,11015	2203	4300	6503	SO:0001583	missense	7764	exon3			TATGAACGTCAGG	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2215G>A	20.37:g.52193088C>T	ENSP00000360526:p.Val739Ile	Somatic	125	1	0.008		WXS	Illumina HiSeq	Phase_I	115	43	0.373913	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	296	0.13553113553113552	138	0.2804878048780488	41	0.1132596685082873	33	0.057692307692307696	84	0.11081794195250659	C	3.852	-0.031630	0.07543	0.211303	0.123256	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09445	2.98;2.98	5.45	-9.83	0.00482	.	2.230010	0.01570	N	0.020552	T	0.00012	0.0000	N	0.03967	-0.31	0.80722	P	0.0	B	0.13145	0.007	B	0.04013	0.001	T	0.36089	-0.9762	9	0.11182	T	0.66	-0.48	4.7667	0.13135	0.0985:0.4318:0.2022:0.2675	rs6063966;rs16998239;rs60939286;rs6063966	739	O75362	ZN217_HUMAN	I	739	ENSP00000360526:V739I;ENSP00000304308:V739I	ENSP00000304308:V739I	V	-	1	0	ZNF217	51626495	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.738000	0.04871	-2.542000	0.00485	-0.300000	0.09419	GTT	C|0.859;T|0.141	0.141	strong		0.438	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		T	52193088	C	T	52193088	3	4	23	1	0	0	0	0	1	0	0	0	17769	536	19	1	939	1	ZNF217	20	52193088	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	451	52193088	10832432	4614	21070										
CYP24A1	1591	hgsc.bcm.edu	37	chr20	52790027	52790027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgaggggacgtgtacgccGtagatgtcaccagtctcggg	16	10	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:52790027G>A	ENST00000216862.3	-	1	485	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CYP24A1_ENST00000395954.3_5'Flank|CYP24A1_ENST00000395955.3_Missense_Mutation_p.T31M	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	31					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTGTACGCCGTAGATGTCAC	0.701																																					p.T31M		Atlas-SNP	.											.	CYP24A1	75	.	0			c.C92T						PASS	.						11	10	10					20																	52790027		2182	4282	6464	SO:0001583	missense	1591	exon1			TACGCCGTAGATG	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.92C>T	20.37:g.52790027G>A	ENSP00000216862:p.Thr31Met	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	39	13	0.333333	NM_000782	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830799	0.16820	.	.	ENSG00000019186	ENST00000216862;ENST00000395955	T;T	0.71222	-0.53;-0.55	5.27	-0.451	0.12214	.	0.815815	0.11464	N	0.561406	T	0.40372	0.1114	N	0.08118	0	0.09310	N	0.999999	P;P	0.43024	0.521;0.798	B;B	0.35182	0.128;0.197	T	0.29731	-1.0002	10	0.35671	T	0.21	-0.5016	3.5654	0.07897	0.0786:0.2999:0.3524:0.2691	.	31;31	Q32ML3;Q07973	.;CP24A_HUMAN	M	31	ENSP00000216862:T31M;ENSP00000379285:T31M	ENSP00000216862:T31M	T	-	2	0	CYP24A1	52223434	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.239000	0.18023	-0.332000	0.08489	-0.309000	0.09137	ACG	.	.	none		0.701	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			A	52790027	G	A	52790027	3	1	23	1	0	0	0	0	1	0	0	0	4154	1145	40	1	1496	1	CYP24A1	20	52790027	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	596939	52790027	10235493	4615	21071										
C20orf108	116151	hgsc.bcm.edu	37	chr20	54941140	54941140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccctagtggtgtggacatgCctgcaatcctgctgaaactc	10	13	0	1	rs6099115	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:54941140C>T	ENST00000371384.3	+	3	467	c.376C>T	c.(376-378)Cct>Tct	p.P126S		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	126	DUF1279.		P -> S (in dbSNP:rs6099115).			integral component of membrane (GO:0016021)											TGTGGACATGCCTGCAATCCT	0.418													T|||	1149	0.229433	0.5499	0.1484	5008	,	,		18844	0.001		0.1938	False		,,,				2504	0.1258				p.P126S		Atlas-SNP	.											.	.	.	.	0			c.C376T						PASS	.	T	SER/PRO	2171,2235	592.3+/-387.8	531,1109,563	65	62	63		376	3.3	1	20	dbSNP_114	63	1472,7128	749.9+/-407.4	127,1218,2955	yes	missense	C20orf108	NM_080821.2	74	658,2327,3518	TT,TC,CC		17.1163,49.2737,28.0101	benign	126/193	54941140	3643,9363	2203	4300	6503	SO:0001583	missense	116151	exon3			GACATGCCTGCAA	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.376C>T	20.37:g.54941140C>T	ENSP00000360437:p.Pro126Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	119	45	0.378151	NM_080821	B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	CCDS13450.1	463	0.211996336996337	266	0.540650406504065	59	0.16298342541436464	0	0.0	138	0.1820580474934037	T	1.259	-0.616284	0.03663	0.492737	0.171163	ENSG00000124098	ENST00000371384	T	0.27890	1.64	5.56	3.28	0.37604	Domain of unknown function DUF1279 (1);	0.225853	0.46758	N	0.000274	T	0.00012	0.0000	N	0.05230	-0.09	0.58432	P	4.000000000004E-6	B	0.09022	0.002	B	0.20577	0.03	T	0.46219	-0.9207	9	0.07813	T	0.8	-2.3755	4.0206	0.09664	0.4248:0.1575:0.0:0.4177	rs6099115;rs52826804;rs58841026;rs6099115	126	Q96KR6	CT108_HUMAN	S	126	ENSP00000360437:P126S	ENSP00000360437:P126S	P	+	1	0	C20orf108	54374547	0.995000	0.38212	0.996000	0.52242	0.752000	0.42762	0.723000	0.25939	0.373000	0.24621	-1.239000	0.01543	CCT	C|0.729;T|0.271	0.271	strong		0.418	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		T	54941140	C	T	54941140	3	4	23	1	0	0	0	0	1	0	0	0	2078	739	26	2	386	2	C20orf108	20	54941140	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2151113	54941140	8084380	4616	21072										
C20orf107	388799	hgsc.bcm.edu	37	chr20	55111371	55111371	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatttgtgtccgaagtgcaGaatcttaaaggtgccatggc	11	7	1	1	rs2296130	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:55111371G>A	ENST00000371325.1	+	2	489	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	131						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCGAAGTGCAGAATCTTAAAG	0.398													G|||	1873	0.374002	0.5461	0.3473	5008	,	,		20008	0.0466		0.4483	False		,,,				2504	0.4213				p.Q131Q		Atlas-SNP	.											.	.	.	.	0			c.G393A						PASS	.	G		2376,2030	612.7+/-392.0	639,1098,466	99	99	99		393	1.5	0.2	20	dbSNP_100	99	3934,4666	549.6+/-385.6	869,2196,1235	no	coding-synonymous	C20orf107	NM_001013646.2		1508,3294,1701	AA,AG,GG		45.7442,46.0735,48.5161		131/172	55111371	6310,6696	2203	4300	6503	SO:0001819	synonymous_variant	388799	exon2			AGTGCAGAATCTT	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.393G>A	20.37:g.55111371G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	160	71	0.44375	NM_001013646	Q3KRB5	Silent	SNP	ENST00000371325.1	37	CCDS33494.1																																																																																			G|0.585;A|0.415	0.415	strong		0.398	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			A	55111371	G	A	55111371	2	1	23	1	0	0	0	0	0	0	0	1	2077	933	33	2		2	C20orf107	20	55111371	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	170231	55111371	7914149	4617	21073										
CTCFL	140690	hgsc.bcm.edu	37	chr20	56090779	56090779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcccttacctgagtgcgTtctcatgtggcgtttcagct	11	11	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:56090779T>C	ENST00000608263.1	-	5	1832	c.1171A>G	c.(1171-1173)Acg>Gcg	p.T391A	CTCFL_ENST00000539382.1_Missense_Mutation_p.T186A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T129A|CTCFL_ENST00000429804.3_Missense_Mutation_p.T391A|CTCFL_ENST00000609232.1_Missense_Mutation_p.T391A|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.T391A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T391A|CTCFL_ENST00000433949.3_Missense_Mutation_p.T186A|CTCFL_ENST00000608440.1_Missense_Mutation_p.T391A|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.T391A|CTCFL_ENST00000423479.3_Missense_Mutation_p.T391A|CTCFL_ENST00000608903.1_Missense_Mutation_p.T129A|CTCFL_ENST00000371196.2_Missense_Mutation_p.T391A	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	391					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTGAGTGCGTTCTCATGTGG	0.478																																					p.T391A		Atlas-SNP	.											CTCFL,colon,carcinoma,+2,2	CTCFL	97	2	0			c.A1171G						scavenged	.						168	157	161					20																	56090779		2203	4300	6503	SO:0001583	missense	140690	exon5			AGTGCGTTCTCAT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1171A>G	20.37:g.56090779T>C	ENSP00000476783:p.Thr391Ala	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	74	2	0.027027	NM_001269044	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203477	0.79127	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.30448	2.08;2.08;2.08;1.53;2.08;2.08;1.53;2.08;2.08;2.08	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000328	T	0.48390	0.1497	L	0.56199	1.76	0.42311	D	0.992219	D;D;D;D;D	0.71674	0.975;0.998;0.98;0.998;0.998	P;D;P;D;D	0.69654	0.854;0.965;0.881;0.965;0.965	T	0.38993	-0.9635	10	0.33940	T	0.23	-29.2685	14.4174	0.67160	0.0:0.0:0.0:1.0	.	391;391;391;391;391	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	A	391;391;391;391;391;129;391;391;186;391	ENSP00000415579:T391A;ENSP00000243914:T391A;ENSP00000360239:T391A;ENSP00000415329:T391A;ENSP00000392034:T391A;ENSP00000437999:T129A;ENSP00000413713:T391A;ENSP00000403369:T391A;ENSP00000439998:T186A;ENSP00000399061:T391A	ENSP00000243914:T391A	T	-	1	0	CTCFL	55524185	1.000000	0.71417	0.587000	0.28692	0.538000	0.34931	7.706000	0.84615	2.108000	0.64289	0.528000	0.53228	ACG	.	.	none		0.478	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		C	56090779	T	C	56090779	3	2	23	1	0	0	0	0	1	0	0	0	4001	1725	60	2	844	2	CTCFL	20	56090779	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	979408	56090779	6934741	4618	21074										
CTCFL	140690	hgsc.bcm.edu	37	chr20	56099114	56099114	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaggccccagaggtacgctCggcctccaactcactagggc	12	15	1	1	rs6070128	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:56099114C>G	ENST00000608263.1	-	1	809	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.E50Q|CTCFL_ENST00000609232.1_Missense_Mutation_p.E50Q|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.E50Q|CTCFL_ENST00000422869.2_Missense_Mutation_p.E50Q|CTCFL_ENST00000608158.1_Missense_Mutation_p.E50Q|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608440.1_Missense_Mutation_p.E50Q|CTCFL_ENST00000432255.2_Missense_Mutation_p.E50Q|CTCFL_ENST00000608425.1_Missense_Mutation_p.E50Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.E50Q|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000481655.2_Missense_Mutation_p.E50Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.E50Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	50			E -> Q (in dbSNP:rs6070128).		cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GAGGTACGCTCGGCCTCCAAC	0.582													C|||	1428	0.285144	0.0862	0.2882	5008	,	,		19373	0.3651		0.4165	False		,,,				2504	0.3344				p.E50Q		Atlas-SNP	.											CTCFL,caecum,carcinoma,0,1	CTCFL	97	1	0			c.G148C						PASS	.	C	GLN/GLU	565,3841	254.0+/-259.7	33,499,1671	154	169	164		148	-4.7	0	20	dbSNP_114	164	3513,5087	512.5+/-378.0	711,2091,1498	yes	missense	CTCFL	NM_080618.2	29	744,2590,3169	GG,GC,CC		40.8488,12.8234,31.3548	benign	50/664	56099114	4078,8928	2203	4300	6503	SO:0001583	missense	140690	exon1			TACGCTCGGCCTC		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.148G>C	20.37:g.56099114C>G	ENSP00000476783:p.Glu50Gln	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	155	85	0.548387	NM_001269044	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	688	0.315018315018315	45	0.09146341463414634	116	0.32044198895027626	219	0.38286713286713286	308	0.40633245382585753	C	6.687	0.495343	0.12762	0.128234	0.408488	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.12147	2.71;2.75;2.75;2.93;2.81;3.1;2.79;3.39;2.79	4.0	-4.73	0.03259	.	1.342910	0.05297	N	0.522327	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B;B;B;B;B	0.15141	0.0;0.0;0.005;0.012;0.005;0.011;0.0;0.0	B;B;B;B;B;B;B;B	0.12156	0.003;0.003;0.007;0.006;0.005;0.007;0.002;0.001	T	0.48514	-0.9029	9	0.22706	T	0.39	-1.0843	9.003	0.36094	0.0:0.2572:0.5775:0.1653	rs6070128;rs6070128	50;50;50;50;50;50;50;50	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	Q	50	ENSP00000415579:E50Q;ENSP00000243914:E50Q;ENSP00000360239:E50Q;ENSP00000415329:E50Q;ENSP00000392034:E50Q;ENSP00000413713:E50Q;ENSP00000403369:E50Q;ENSP00000409344:E50Q;ENSP00000399061:E50Q	ENSP00000243914:E50Q	E	-	1	0	CTCFL	55532520	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.230000	0.09083	-1.292000	0.02366	-0.150000	0.13652	GAG	C|0.675;G|0.325	0.325	strong		0.582	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56099114	C	G	56099114	3	3	23	1	0	0	0	0	1	0	0	0	4001	893	31	4	1883	4	CTCFL	20	56099114	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8335	56099114	6926406	4619	21075										
C20orf85	128602	hgsc.bcm.edu	37	chr20	56735761	56735761	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaccacccagggcttcatCggctggagatctgcagtgcc	12	14	2	2	rs61749694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:56735761C>T	ENST00000371168.3	+	4	358	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	99			I -> V (in dbSNP:rs17440813).							kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGGCTTCATCGGCTGGAGAT	0.577													C|||	9	0.00179712	0.0	0.0029	5008	,	,		19067	0.0		0.007	False		,,,				2504	0.0				p.I99I		Atlas-SNP	.											.	C20orf85	35	.	0			c.C297T						PASS	.	C		6,4400	9.9+/-24.2	0,6,2197	46	40	42		297	1.3	1	20	dbSNP_129	42	43,8557	27.9+/-77.7	0,43,4257	no	coding-synonymous	C20orf85	NM_178456.2		0,49,6454	TT,TC,CC		0.5,0.1362,0.3767		99/138	56735761	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	128602	exon4			CTTCATCGGCTGG	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.297C>T	20.37:g.56735761C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	80	36	0.45	NM_178456		Silent	SNP	ENST00000371168.3	37	CCDS13465.1																																																																																			C|0.997;T|0.003	0.003	strong		0.577	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		T	56735761	C	T	56735761	2	4	23	1	0	0	0	0	0	0	0	1	2120	874	31	1		1	C20orf85	20	56735761	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	636647	56735761	6289759	4620	21076										
NPEPL1	79716	hgsc.bcm.edu	37	chr20	57282190	57282190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cacccgcagactaccatgccGgggatgaagcgagactgcgg	14	13	0	3	rs41310841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57282190G>A	ENST00000356091.6	+	7	1122	c.834G>A	c.(832-834)ccG>ccA	p.P278P	NPEPL1_ENST00000525817.1_Silent_p.P230P|NPEPL1_ENST00000525967.1_Silent_p.P250P|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	278						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTACCATGCCGGGGATGAAGC	0.692													G|||	179	0.0357428	0.0038	0.0389	5008	,	,		12769	0.1042		0.0358	False		,,,				2504	0.0061				p.P278P		Atlas-SNP	.											NPEPL1,NS,carcinoma,0,1	NPEPL1	36	1	0			c.G834A						scavenged	.	G	,,	27,3877		0,27,1925	11	15	13		750,690,834	-8.9	0.1	20	dbSNP_127	13	240,7886		2,236,3825	no	coding-synonymous,coding-synonymous,coding-synonymous	NPEPL1	NM_001204872.1,NM_001204873.1,NM_024663.3	,,	2,263,5750	AA,AG,GG		2.9535,0.6916,2.2195	,,	250/496,230/476,278/524	57282190	267,11763	1952	4063	6015	SO:0001819	synonymous_variant	79716	exon7			CATGCCGGGGATG	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.834G>A	20.37:g.57282190G>A		Somatic	192	1	0.00520833		WXS	Illumina HiSeq	Phase_I	182	85	0.467033	NM_024663	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	37	CCDS46621.1																																																																																			G|0.947;A|0.053	0.053	strong		0.692	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		A	57282190	G	A	57282190	2	1	23	1	0	0	0	0	0	0	0	1	10574	1103	39	1		1	NPEPL1	20	57282190	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	546429	57282190	5743330	4621	21077										
TUBB1	81027	hgsc.bcm.edu	37	chr20	57598808	57598808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaaggccactacacggaggGagccgagctgatcgagaatg	14	10	0	2	rs41303899	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57598808G>A	ENST00000217133.1	+	4	595	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	109					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TACACGGAGGGAGCCGAGCTG	0.592													G|||	4	0.000798722	0.0	0.0029	5008	,	,		16838	0.0		0.002	False		,,,				2504	0.0				p.G109E		Atlas-SNP	.											TUBB1,mucosal,malignant_melanoma,+1,1	TUBB1	42	1	0			c.G326A						PASS	.	G	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	83	91	89		326	5.4	1	20	dbSNP_127	89	12,8588	9.1+/-34.3	0,12,4288	yes	missense	TUBB1	NM_030773.3	98	0,14,6489	AA,AG,GG		0.1395,0.0454,0.1076	probably-damaging	109/452	57598808	14,12992	2203	4300	6503	SO:0001583	missense	81027	exon4			CGGAGGGAGCCGA	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.326G>A	20.37:g.57598808G>A	ENSP00000217133:p.Gly109Glu	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	59	0.475806	NM_030773		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.48	3.399586	0.62177	4.54E-4	0.001395	ENSG00000101162	ENST00000217133	T	0.75821	-0.97	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	H	0.99993	5.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97591	1.0117	10	0.87932	D	0	.	18.1143	0.89546	0.0:0.0:1.0:0.0	rs41303899	109	Q9H4B7	TBB1_HUMAN	E	109	ENSP00000217133:G109E	ENSP00000217133:G109E	G	+	2	0	TUBB1	57032203	1.000000	0.71417	0.952000	0.39060	0.158000	0.22134	9.824000	0.99380	2.537000	0.85549	0.655000	0.94253	GGA	G|0.999;A|0.001	0.001	strong		0.592	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		A	57598808	G	A	57598808	3	1	23	1	0	0	0	0	1	0	0	0	16750	1174	41	2	340	2	TUBB1	20	57598808	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	316618	57598808	5426712	4622	21078										
TUBB1	81027	hgsc.bcm.edu	37	chr20	57599402	57599402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctgcctgtgacctccgccGtggccgctacctcacagtgg	13	16	1	1	rs6070697	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57599402G>A	ENST00000217133.1	+	4	1189	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	307			R -> H (in dbSNP:rs6070697). {ECO:0000269|PubMed:18849486}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GACCTCCGCCGTGGCCGCTAC	0.637													G|||	721	0.14397	0.1157	0.1527	5008	,	,		19228	0.1042		0.2048	False		,,,				2504	0.1544				p.R307H		Atlas-SNP	.											.	TUBB1	42	.	0			c.G920A						PASS	.	G	HIS/ARG	582,3822	252.4+/-258.8	42,498,1662	52	44	46		920	1.9	0.9	20	dbSNP_114	46	1447,7153	273.8+/-290.9	118,1211,2971	yes	missense	TUBB1	NM_030773.3	29	160,1709,4633	AA,AG,GG		16.8256,13.2153,15.6029	benign	307/452	57599402	2029,10975	2202	4300	6502	SO:0001583	missense	81027	exon4			TCCGCCGTGGCCG	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.920G>A	20.37:g.57599402G>A	ENSP00000217133:p.Arg307His	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	53	27	0.509434	NM_030773		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	307	0.14056776556776557	48	0.0975609756097561	50	0.13812154696132597	57	0.09965034965034965	152	0.20052770448548812	G	3.164	-0.171452	0.06421	0.132153	0.168256	ENSG00000101162	ENST00000217133	T	0.80909	-1.43	5.41	1.91	0.25777	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.265266	0.44483	N	0.000445	T	0.00039	0.0001	N	0.00108	-2.11	0.22656	P	0.99888428	B	0.14012	0.009	B	0.06405	0.002	T	0.23511	-1.0186	9	0.87932	D	0	.	9.4486	0.38712	0.3292:0.0:0.6708:0.0	rs6070697;rs59113071;rs6070697	307	Q9H4B7	TBB1_HUMAN	H	307	ENSP00000217133:R307H	ENSP00000217133:R307H	R	+	2	0	TUBB1	57032797	0.930000	0.31532	0.868000	0.34077	0.995000	0.86356	1.933000	0.40153	0.656000	0.30886	0.561000	0.74099	CGT	G|0.852;A|0.148	0.148	strong		0.637	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		A	57599402	G	A	57599402	3	1	23	1	0	0	0	0	1	0	0	0	16750	1145	40	1	934	1	TUBB1	20	57599402	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	594	57599402	5426118	4623	21079										
ZNF831	128611	hgsc.bcm.edu	37	chr20	57767727	57767727	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctcgggactaagctcgacTgacgttcccagtgggcatcc	12	14	0	1	rs61743785	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57767727T>A	ENST00000371030.2	+	1	1653	c.1653T>A	c.(1651-1653)acT>acA	p.T551T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	551							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAAGCTCGACTGACGTTCCCA	0.726													.|||	211	0.0421326	0.0098	0.0533	5008	,	,		13876	0.0		0.1203	False		,,,				2504	0.0409				p.T551T		Atlas-SNP	.											.	ZNF831	287	.	0			c.T1653A						PASS	.	T		59,3507		1,57,1725	5	6	6		1653	-7.7	0	20	dbSNP_129	6	791,6985		37,717,3134	no	coding-synonymous	ZNF831	NM_178457.1		38,774,4859	AA,AT,TT		10.1723,1.6545,7.4943		551/1678	57767727	850,10492	1783	3888	5671	SO:0001819	synonymous_variant	128611	exon1			CTCGACTGACGTT	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1653T>A	20.37:g.57767727T>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			T|0.939;A|0.061	0.061	strong		0.726	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57767727	T	A	57767727	2	1	23	1	0	0	0	0	0	0	0	1	18182	1567	55	5		5	ZNF831	20	57767727	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	168325	57767727	5257793	4624	21080										
ZNF831	128611	hgsc.bcm.edu	37	chr20	57768743	57768743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggagcctccttggctgctgCttctgttgccctgaagaggg	14	11	1	2	rs56057707	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57768743C>T	ENST00000371030.2	+	1	2669	c.2669C>T	c.(2668-2670)gCt>gTt	p.A890V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	890							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGGCTGCTGCTTCTGTTGCC	0.677													.|||	881	0.175919	0.0802	0.2378	5008	,	,		14502	0.2728		0.1899	False		,,,				2504	0.1472				p.A890V		Atlas-SNP	.											.	ZNF831	287	.	0			c.C2669T						PASS	.	C	VAL/ALA	332,3604		16,300,1652	26	29	28		2669	2.8	0	20	dbSNP_129	28	1543,6783		139,1265,2759	yes	missense	ZNF831	NM_178457.1	64	155,1565,4411	TT,TC,CC		18.5323,8.435,15.2911	benign	890/1678	57768743	1875,10387	1968	4163	6131	SO:0001583	missense	128611	exon1			CTGCTGCTTCTGT	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2669C>T	20.37:g.57768743C>T	ENSP00000360069:p.Ala890Val	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	86	40	0.465116	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	397	0.18177655677655677	42	0.08536585365853659	78	0.2154696132596685	120	0.2097902097902098	157	0.20712401055408972	C	7.450	0.642402	0.14451	0.08435	0.185323	ENSG00000124203	ENST00000371030	T	0.04654	3.58	3.75	2.79	0.32731	.	1.781660	0.02972	N	0.144512	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.45963	-0.9225	9	0.02654	T	1	12.0247	11.476	0.50297	0.1814:0.8186:0.0:0.0	rs56057707;rs61742491	890	Q5JPB2	ZN831_HUMAN	V	890	ENSP00000360069:A890V	ENSP00000360069:A890V	A	+	2	0	ZNF831	57202138	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.376000	0.07465	0.210000	0.20664	-0.808000	0.03180	GCT	C|0.821;T|0.179	0.179	strong		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57768743	C	T	57768743	3	4	23	1	0	0	0	0	1	0	0	0	18182	797	28	2	2671	2	ZNF831	20	57768743	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1016	57768743	5256777	4625	21081										
ZNF831	128611	hgsc.bcm.edu	37	chr20	57769140	57769140	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagaaaaggggcacagttGgggggggacaagggggacag	23	4	0	1	rs55786258	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:57769140G>C	ENST00000371030.2	+	1	3066	c.3066G>C	c.(3064-3066)ttG>ttC	p.L1022F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													.|||	843	0.168331	0.0477	0.2378	5008	,	,		14918	0.2718		0.1899	False		,,,				2504	0.1534				p.L1022F		Atlas-SNP	.											.	ZNF831	287	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.G3066C						PASS	.	G	PHE/LEU	245,3741		5,235,1753	19	23	21		3066	-2.9	0	20	dbSNP_129	21	1545,6789		139,1267,2761	yes	missense	ZNF831	NM_178457.1	22	144,1502,4514	CC,CG,GG		18.5385,6.1465,14.5292	probably-damaging	1022/1678	57769140	1790,10530	1993	4167	6160	SO:0001583	missense	128611	exon1			ACAGTTGGGGGGG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3066G>C	20.37:g.57769140G>C	ENSP00000360069:p.Leu1022Phe	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	31	14	0.451613	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	384	0.17582417582417584	29	0.05894308943089431	78	0.2154696132596685	120	0.2097902097902098	157	0.20712401055408972	G	11.05	1.523625	0.27299	0.061465	0.185385	ENSG00000124203	ENST00000371030	T	0.04454	3.62	3.34	-2.88	0.05682	.	4.175570	0.00751	N	0.001077	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.35821	0.523	B	0.26770	0.073	T	0.39860	-0.9593	9	0.59425	D	0.04	2.511	3.8856	0.09097	0.5657:0.0:0.2608:0.1734	rs55786258	1022	Q5JPB2	ZN831_HUMAN	F	1022	ENSP00000360069:L1022F	ENSP00000360069:L1022F	L	+	3	2	ZNF831	57202535	.	.	0.002000	0.10522	0.002000	0.02628	.	.	-0.261000	0.09405	0.467000	0.42956	TTG	G|0.829;C|0.171	0.171	strong		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		C	57769140	G	C	57769140	3	2	23	1	0	0	0	0	1	0	0	0	18182	1339	47	4	3068	4	ZNF831	20	57769140	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	397	57769140	5256380	4626	21082										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60892538	60892538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgagccccatccaggctggcGgcgaggcgctccagctcctg	14	17	0	0	rs146174815	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:60892538G>A	ENST00000252999.3	-	55	7440	c.7374C>T	c.(7372-7374)gcC>gcT	p.A2458A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2458	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCAGGCTGGCGGCGAGGCGCT	0.672													.|||	11	0.00219649	0.0	0.0072	5008	,	,		16528	0.0		0.005	False		,,,				2504	0.001				p.A2458A		Atlas-SNP	.											.	LAMA5	268	.	0			c.C7374T						PASS	.			7,4333		0,7,2163	21	23	22		7374	-7.1	0.8	20	dbSNP_134	22	70,8470		1,68,4201	no	coding-synonymous	LAMA5	NM_005560.3		1,75,6364	AA,AG,GG		0.8197,0.1613,0.5978		2458/3696	60892538	77,12803	2170	4270	6440	SO:0001819	synonymous_variant	3911	exon55			GCTGGCGGCGAGG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7374C>T	20.37:g.60892538G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	127	61	0.480315	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			G|0.994;A|0.006	0.006	strong		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60892538	G	A	60892538	2	1	23	1	0	0	0	0	0	0	0	1	8609	1103	39	1		1	LAMA5	20	60892538	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3123398	60892538	2132982	4627	21083										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60897104	60897104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatgctgtggcccacaggcCcgcctggaacaggcacctga	14	14	0	1	rs141208202	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:60897104C>T	ENST00000252999.3	-	48	6533	c.6467G>A	c.(6466-6468)gGg>gAg	p.G2156E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2156	Laminin EGF-like 22. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCCACAGGCCCGCCTGGAAC	0.657													.|||	82	0.0163738	0.003	0.0418	5008	,	,		11915	0.0		0.0437	False		,,,				2504	0.0051				p.G2156E		Atlas-SNP	.											.	LAMA5	268	.	0			c.G6467A						PASS	.	C	GLU/GLY	33,4359		0,33,2163	45	41	43		6467	1.1	0	20	dbSNP_134	43	369,8199		7,355,3922	yes	missense	LAMA5	NM_005560.3	98	7,388,6085	TT,TC,CC		4.3067,0.7514,3.1019	possibly-damaging	2156/3696	60897104	402,12558	2196	4284	6480	SO:0001583	missense	3911	exon48			ACAGGCCCGCCTG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6467G>A	20.37:g.60897104C>T	ENSP00000252999:p.Gly2156Glu	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	40	17	0.425	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	49	0.022435897435897436	2	0.0040650406504065045	16	0.04419889502762431	0	0.0	31	0.040897097625329816	c	6.876	0.530970	0.13127	0.007514	0.043067	ENSG00000130702	ENST00000252999	T	0.18657	2.2	4.19	1.11	0.20524	EGF-like, laminin (2);	0.764022	0.12436	U	0.469157	T	0.02083	0.0065	N	0.08118	0	0.09310	N	0.999993	B	0.26935	0.164	B	0.25405	0.06	T	0.29701	-1.0003	10	0.39692	T	0.17	.	8.5676	0.33550	0.0:0.7346:0.0:0.2654	.	2156	O15230	LAMA5_HUMAN	E	2156	ENSP00000252999:G2156E	ENSP00000252999:G2156E	G	-	2	0	LAMA5	60330499	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.871000	0.28023	0.081000	0.16988	-0.350000	0.07774	GGG	C|0.973;T|0.027	0.027	strong		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60897104	C	T	60897104	3	4	23	1	0	0	0	0	1	0	0	0	8609	623	22	2	4752	2	LAMA5	20	60897104	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4566	60897104	2128416	4628	21084										
C20orf166	128826	hgsc.bcm.edu	37	chr20	61162267	61162267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtggagaggacccagcaggTggcgcggggagagcccggct	20	11	0	2	rs6062251	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61162267T>C	ENST00000370527.3	+	3	859	c.80T>C	c.(79-81)gTg>gCg	p.V27A	C20orf166_ENST00000370523.1_Intron|MIR133A2_ENST00000347538.2_RNA|C20orf166_ENST00000370524.2_Intron	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			ACCCAGCAGGTGGCGCGGGGA	0.677													C|||	2888	0.576677	0.7042	0.5605	5008	,	,		12968	0.3284		0.6243	False		,,,				2504	0.6227				p.V27A		Atlas-SNP	.											.	C20orf166	17	.	0			c.T80C						PASS	.	C	ALA/VAL	2917,1443		1016,885,279	11	12	12		80	-7.9	0	20	dbSNP_114	12	5233,3313		1652,1929,692	yes	missense	C20orf166	NM_178463.3	64	2668,2814,971	CC,CT,TT		38.7667,33.0963,36.8511	benign	27/118	61162267	8150,4756	2180	4273	6453	SO:0001583	missense	128826	exon3			AGCAGGTGGCGCG	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.80T>C	20.37:g.61162267T>C	ENSP00000359558:p.Val27Ala	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	20	7	0.35	NM_178463		Missense_Mutation	SNP	ENST00000370527.3	37	CCDS46627.1	1208	0.5531135531135531	341	0.693089430894309	211	0.5828729281767956	191	0.3339160839160839	465	0.6134564643799473	C	9.871	1.198845	0.22121	0.669037	0.612333	ENSG00000174407	ENST00000370527	T	0.36520	1.25	3.93	-7.86	0.01187	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.09084	T	0.74	.	3.8336	0.08885	0.2485:0.1229:0.4735:0.1551	rs6062251;rs7268727	27	Q9H1L0	CT166_HUMAN	A	27	ENSP00000359558:V27A	ENSP00000359558:V27A	V	+	2	0	C20orf166	60572712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.298000	0.01140	-1.689000	0.01434	-0.320000	0.08662	GTG	T|0.451;C|0.549	0.549	strong		0.677	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		C	61162267	T	C	61162267	3	2	23	1	0	0	0	0	1	0	0	0	2095	1696	59	2	86	2	C20orf166	20	61162267	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	265163	61162267	1863253	4629	21085										
COL9A3	1299	hgsc.bcm.edu	37	chr20	61460124	61460124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttgtccccagggcatgccGggcaaggacggccagaatgg	15	13	0	1	rs2249903	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61460124G>A	ENST00000343916.3	+	18	912	c.909G>A	c.(907-909)ccG>ccA	p.P303P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	303	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGGCATGCCGGGCAAGGACG	0.682													G|||	422	0.0842652	0.0363	0.1167	5008	,	,		19021	0.0308		0.1889	False		,,,				2504	0.0736				p.P303P		Atlas-SNP	.											COL9A3,right_lower_lobe,carcinoma,+1,1	COL9A3	70	1	0			c.G909A						PASS	.	G		276,4126	150.3+/-184.3	11,254,1936	51	47	48		909	-7.8	1	20	dbSNP_100	48	1507,7091	281.8+/-295.3	135,1237,2927	no	coding-synonymous	COL9A3	NM_001853.3		146,1491,4863	AA,AG,GG		17.5273,6.2699,13.7154		303/685	61460124	1783,11217	2201	4299	6500	SO:0001819	synonymous_variant	1299	exon18			CATGCCGGGCAAG	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.909G>A	20.37:g.61460124G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	109	50	0.458716	NM_001853	Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	CCDS13505.1																																																																																			G|0.833;A|0.167	0.167	strong		0.682	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		A	61460124	G	A	61460124	2	1	23	1	0	0	0	0	0	0	0	1	3709	1103	39	1		1	COL9A3	20	61460124	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	297857	61460124	1565396	4630	21086										
COL9A3	1299	hgsc.bcm.edu	37	chr20	61463522	61463522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagggtccgggaggtgccgCaggccctaagggagaccagg	18	12	0	1	rs751557	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61463522C>A	ENST00000343916.3	+	25	1307	c.1304C>A	c.(1303-1305)gCa>gAa	p.A435E		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	435	Triple-helical region 3 (COL3).		A -> E (in dbSNP:rs751557). {ECO:0000269|PubMed:11565064, ECO:0000269|PubMed:8586434}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGAGGTGCCGCAGGCCCTAAG	0.602													C|||	1066	0.212859	0.447	0.1729	5008	,	,		20947	0.0496		0.2177	False		,,,				2504	0.0879				p.A435E		Atlas-SNP	.											COL9A3,caecum,carcinoma,0,1	COL9A3	70	1	0			c.C1304A						scavenged	.	C	GLU/ALA	1747,2659	513.9+/-368.5	338,1071,794	58	61	60		1304	4.2	0.4	20	dbSNP_86	60	1774,6826	317.9+/-313.4	185,1404,2711	yes	missense	COL9A3	NM_001853.3	107	523,2475,3505	AA,AC,CC		20.6279,39.6505,27.0721	probably-damaging	435/685	61463522	3521,9485	2203	4300	6503	SO:0001583	missense	1299	exon25			GTGCCGCAGGCCC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1304C>A	20.37:g.61463522C>A	ENSP00000341640:p.Ala435Glu	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	158	70	0.443038	NM_001853	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	464	0.21245421245421245	204	0.4146341463414634	66	0.18232044198895028	32	0.055944055944055944	162	0.21372031662269128	C	10.51	1.371130	0.24771	0.396505	0.206279	ENSG00000092758	ENST00000343916	D	0.93712	-3.27	5.2	4.23	0.50019	.	0.843935	0.10592	N	0.656672	T	0.00012	0.0000	N	0.05078	-0.115	0.80722	P	0.0	B	0.23185	0.081	B	0.25506	0.061	T	0.04664	-1.0935	9	0.07325	T	0.83	.	12.5103	0.56002	0.0:0.868:0.0:0.132	rs751557;rs59729765;rs751557	435	Q14050	CO9A3_HUMAN	E	435	ENSP00000341640:A435E	ENSP00000341640:A435E	A	+	2	0	COL9A3	60933967	0.003000	0.15002	0.425000	0.26659	0.227000	0.25037	0.934000	0.28910	2.584000	0.87258	0.462000	0.41574	GCA	T|0.003;G|0.006	.	strong		0.602	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		A	61463522	C	A	61463522	3	1	23	1	0	0	0	0	1	0	0	0	3709	710	25	4	1402	4	COL9A3	20	61463522	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3398	61463522	1561998	4631	21087										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61528044	61528044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acggctcccaccaaagcagcGgagccagggaacttcttgga	12	13	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61528044G>A	ENST00000266070.4	-	7	2218	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	DIDO1_ENST00000395335.2_Silent_p.S631S|DIDO1_ENST00000395343.1_Silent_p.S631S|DIDO1_ENST00000395340.1_Silent_p.S631S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	631					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAAAGCAGCGGAGCCAGGGA	0.647																																					p.S631S	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.C1893T						PASS	.						46	52	50					20																	61528044		2203	4300	6503	SO:0001819	synonymous_variant	11083	exon7			AGCAGCGGAGCCA	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1893C>T	20.37:g.61528044G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	109	53	0.486239	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			.	.	none		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61528044	G	A	61528044	2	1	23	1	0	0	0	0	0	0	0	1	4522	1103	39	1		1	DIDO1	20	61528044	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	64522	61528044	1497476	4632	21088										
SLC17A9	63910	hgsc.bcm.edu	37	chr20	61595636	61595636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attccggccagtctattcagCgggtttctctctgatcatct	8	12	6	1	rs2248900	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61595636C>T	ENST00000370351.4	+	8	1010	c.879C>T	c.(877-879)agC>agT	p.S293S	SLC17A9_ENST00000370349.3_Silent_p.S287S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	293					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTCTATTCAGCGGGTTTCTCT	0.617													C|||	771	0.153954	0.0832	0.2118	5008	,	,		18199	0.1974		0.1958	False		,,,				2504	0.1207				p.S293S		Atlas-SNP	.											SLC17A9,caecum,carcinoma,0,1	SLC17A9	54	1	0			c.C879T						PASS	.	C		432,3608		21,390,1609	201	215	210		879	-10.1	0	20	dbSNP_100	210	1838,6506		208,1422,2542	yes	coding-synonymous	SLC17A9	NM_022082.3		229,1812,4151	TT,TC,CC		22.0278,10.6931,18.3301		293/437	61595636	2270,10114	2020	4172	6192	SO:0001819	synonymous_variant	63910	exon8			ATTCAGCGGGTTT	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.879C>T	20.37:g.61595636C>T		Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	292	150	0.513699	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	CCDS42901.1																																																																																			C|0.831;T|0.169	0.169	strong		0.617	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		T	61595636	C	T	61595636	2	4	23	1	0	0	0	0	0	0	0	1	14424	767	27	1		1	SLC17A9	20	61595636	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	67592	61595636	1429884	4633	21089										
NKAIN4	128414	hgsc.bcm.edu	37	chr20	61878950	61878950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgatcaggatctgcaggcAactgtgtagggcctccacat	12	12	2	0	rs872808	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:61878950A>C	ENST00000370316.3	-	4	540	c.451T>G	c.(451-453)Tgc>Ggc	p.C151G	NKAIN4_ENST00000370313.1_Missense_Mutation_p.C89G|NKAIN4_ENST00000370307.2_Missense_Mutation_p.C89G|NKAIN4_ENST00000466885.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	151			C -> G (in dbSNP:rs872808).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ATCTGCAGGCAACTGTGTAGG	0.692													C|||	2160	0.43131	0.4705	0.4352	5008	,	,		14312	0.5099		0.3588	False		,,,				2504	0.3691				p.C151G		Atlas-SNP	.											NKAIN4,NS,carcinoma,0,1	NKAIN4	23	1	0			c.T451G						PASS	.	C	GLY/CYS	1541,2281		345,851,715	20	18	19		451	-4.8	0.1	20	dbSNP_86	19	2390,4884		464,1462,1711	yes	missense	NKAIN4	NM_152864.3	159	809,2313,2426	CC,CA,AA		32.8568,40.3192,35.4272	benign	151/209	61878950	3931,7165	1911	3637	5548	SO:0001583	missense	128414	exon4			GCAGGCAACTGTG	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"Na+/K+ transporting ATPase interacting"	16191	protein-coding gene	gene with protein product		612873	"chromosome 20 open reading frame 58"	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.451T>G	20.37:g.61878950A>C	ENSP00000359340:p.Cys151Gly	Somatic	304	1	0.00328947		WXS	Illumina HiSeq	Phase_I	288	122	0.423611	NM_152864	Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	CCDS13514.1	980	0.44871794871794873	241	0.4898373983739837	149	0.4116022099447514	307	0.5367132867132867	283	0.3733509234828496	C	0	-2.659752	0.00108	0.403192	0.328568	ENSG00000101198	ENST00000370313;ENST00000370316;ENST00000370307;ENST00000370317	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	3.48	-4.78	0.03209	.	0.822085	0.10785	N	0.634470	T	0.00012	0.0000	N	0.00125	-2.05	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39502	-0.9611	9	0.12766	T	0.61	0.2307	5.5207	0.16931	0.2665:0.3829:0.0:0.3505	rs872808;rs61451727;rs872808	89;151	A6NNM2;Q8IVV8	.;NKAI4_HUMAN	G	89;151;89;81	ENSP00000359336:C89G;ENSP00000359340:C151G;ENSP00000359330:C89G;ENSP00000359341:C81G	ENSP00000359330:C89G	C	-	1	0	NKAIN4	61349395	0.000000	0.05858	0.115000	0.21578	0.002000	0.02628	-1.247000	0.02893	-1.184000	0.02720	-1.879000	0.00546	TGC	A|0.529;C|0.471	0.471	strong		0.692	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		C	61878950	A	C	61878950	3	2	23	1	0	0	0	0	1	0	0	0	10438	130	5	5	191	5	NKAIN4	20	61878950	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	283314	61878950	1146570	4634	21090										
EEF1A2	1917	hgsc.bcm.edu	37	chr20	62126185	62126185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagggctccagcatgttgtcAccgtgccagccggagatggg	16	11	1	1	rs310617	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62126185A>G	ENST00000298049.7	-	3	664	c.594T>C	c.(592-594)ggT>ggC	p.G198G	EEF1A2_ENST00000217182.3_Silent_p.G198G			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	198	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCATGTTGTCACCGTGCCAGC	0.672													G|||	2963	0.591653	0.59	0.5029	5008	,	,		14466	0.6181		0.5934	False		,,,				2504	0.6278				p.G198G		Atlas-SNP	.											EEF1A2,NS,carcinoma,0,3	EEF1A2	60	3	0			c.T594C						PASS	.	G		2603,1785	624.9+/-394.4	770,1063,361	37	31	33		594	-7.8	0.1	20	dbSNP_79	33	4849,3747	606.6+/-395.1	1394,2061,843	no	coding-synonymous	EEF1A2	NM_001958.2		2164,3124,1204	GG,GA,AA		43.59,40.6791,42.6063		198/464	62126185	7452,5532	2194	4298	6492	SO:0001819	synonymous_variant	1917	exon4			GTTGTCACCGTGC	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.594T>C	20.37:g.62126185A>G		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																			A|0.419;G|0.581	0.581	strong		0.672	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		G	62126185	A	G	62126185	2	3	23	1	0	0	0	0	0	0	0	1	4924	146	6	2		2	EEF1A2	20	62126185	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	247235	62126185	899335	4635	21091										
SRMS	6725	hgsc.bcm.edu	37	chr20	62172244	62172244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggccgttcctcggggctgCtcctccagcactccagcatg	12	16	0	0	rs33933649	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62172244C>G	ENST00000217188.1	-	8	1434	c.1394G>C	c.(1393-1395)aGc>aCc	p.S465T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> T (in dbSNP:rs33933649). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGGGGCTGCTCCTCCAGCA	0.682													C|||	42	0.00838658	0.0038	0.013	5008	,	,		16998	0.0		0.0229	False		,,,				2504	0.0051				p.S465T		Atlas-SNP	.											.	SRMS	48	.	0			c.G1394C						PASS	.	C	THR/SER	32,4372	36.8+/-68.6	1,30,2171	91	86	88		1394	-3.8	0	20	dbSNP_126	88	253,8347	99.3+/-160.8	1,251,4048	yes	missense	SRMS	NM_080823.2	58	2,281,6219	GG,GC,CC		2.9419,0.7266,2.1916	benign	465/489	62172244	285,12719	2202	4300	6502	SO:0001583	missense	6725	exon8			GGGCTGCTCCTCC		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1394G>C	20.37:g.62172244C>G	ENSP00000217188:p.Ser465Thr	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	58	27	0.465517	NM_080823		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	24	0.01098901098901099	2	0.0040650406504065045	7	0.019337016574585635	0	0.0	15	0.01978891820580475	C	5.972	0.363358	0.11296	0.007266	0.029419	ENSG00000125508	ENST00000217188	D	0.82803	-1.65	5.17	-3.81	0.04294	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.880119	0.09801	N	0.754091	T	0.42921	0.1224	N	0.13299	0.325	0.09310	N	1	B	0.17465	0.022	B	0.26416	0.069	T	0.49031	-0.8981	10	0.44086	T	0.13	.	7.2562	0.26177	0.0:0.2938:0.4425:0.2637	rs33933649	465	Q9H3Y6	SRMS_HUMAN	T	465	ENSP00000217188:S465T	ENSP00000217188:S465T	S	-	2	0	SRMS	61642688	0.000000	0.05858	0.008000	0.14137	0.033000	0.12548	-0.195000	0.09546	-0.615000	0.05679	-0.955000	0.02649	AGC	C|0.979;G|0.021	0.021	strong		0.682	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		G	62172244	C	G	62172244	3	3	23	1	0	0	0	0	1	0	0	0	15151	797	28	4	76	4	SRMS	20	62172244	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	46059	62172244	853276	4636	21092										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62191558	62191558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atggaggacacggccaccccGgcgatgccctctcgccgaag	13	16	1	0	rs3810479	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62191558G>A	ENST00000467148.1	-	17	7692	c.7623C>T	c.(7621-7623)gcC>gcT	p.A2541A	HELZ2_ENST00000427522.2_Silent_p.A1972A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2541	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGGCCACCCCGGCGATGCCCT	0.716													g|||	786	0.156949	0.0083	0.0821	5008	,	,		12764	0.3433		0.16	False		,,,				2504	0.2157				p.A2541A		Atlas-SNP	.											.	.	.	.	0			c.C7623T						PASS	.	A	,	161,4179		4,153,2013	24	19	21		7623,5916	-7.9	0	20	dbSNP_107	21	1308,7220		111,1086,3067	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	115,1239,5080	AA,AG,GG		15.3377,3.7097,11.4159	,	2541/2650,1972/2081	62191558	1469,11399	2170	4264	6434	SO:0001819	synonymous_variant	85441	exon18			CACCCCGGCGATG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7623C>T	20.37:g.62191558G>A		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	50	26	0.52	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			G|0.863;A|0.137	0.137	strong		0.716	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62191558	G	A	62191558	2	1	23	1	0	0	0	0	0	0	0	1	12485	1103	39	1		1	PRIC285	20	62191558	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	19314	62191558	833962	4637	21093										
RTEL1	51750	hgsc.bcm.edu	37	chr20	62322290	62322290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acagcgggcggggagccctgGcgaggagcaggtacagttcc	18	11	0	0	rs190887884	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62322290G>A	ENST00000360203.5	+	27	2871	c.2546G>A	c.(2545-2547)gGc>gAc	p.G849D	RTEL1_ENST00000318100.4_Missense_Mutation_p.G849D|RTEL1_ENST00000508582.2_Missense_Mutation_p.G873D|RTEL1_ENST00000370018.3_Missense_Mutation_p.G849D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G849D|RTEL1_ENST00000370003.1_Missense_Mutation_p.G94D					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGGAGCCCTGGCGAGGAGCAG	0.687													G|||	23	0.00459265	0.0023	0.0058	5008	,	,		15022	0.0		0.0099	False		,,,				2504	0.0061				p.G873D		Atlas-SNP	.											.	RTEL1	114	.	0			c.G2618A						PASS	.	G	ASP/GLY,ASP/GLY	9,4167		0,9,2079	14	15	14		2546,2618	-0.1	0	20		14	113,8185		0,113,4036	yes	missense,missense	RTEL1	NM_016434.3,NM_032957.4	94,94	0,122,6115	AA,AG,GG		1.3618,0.2155,0.978	benign,benign	849/1220,873/1244	62322290	122,12352	2088	4149	6237	SO:0001583	missense	51750	exon27			GCCCTGGCGAGGA	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2546G>A	20.37:g.62322290G>A	ENSP00000353332:p.Gly849Asp	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_032957		Missense_Mutation	SNP	ENST00000360203.5	37		13	0.005952380952380952	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	G	11.51	1.659474	0.29515	0.002155	0.013618	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	4.77	-0.131	0.13494	.	0.888187	0.09800	N	0.754121	T	0.04679	0.0127	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.34290	0.052;0.447;0.003;0.008	B;B;B;B	0.35413	0.075;0.202;0.017;0.046	T	0.38972	-0.9636	10	0.23302	T	0.38	-13.4816	2.5812	0.04818	0.4374:0.0:0.343:0.2196	.	873;94;849;849	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	D	849;849;873;849;94	ENSP00000359035:G849D;ENSP00000322287:G849D;ENSP00000424307:G873D;ENSP00000353332:G849D;ENSP00000359020:G94D	ENSP00000353332:G849D	G	+	2	0	AL353715.1	61792734	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.096000	0.15147	0.093000	0.17368	-0.217000	0.12591	GGC	G|0.994;A|0.006	0.006	strong		0.687	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		A	62322290	G	A	62322290	3	1	23	1	0	0	0	0	1	0	0	0	13720	1203	42	2	2648	2	RTEL1	20	62322290	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	130732	62322290	703230	4638	21094										
ZBTB46	140685	hgsc.bcm.edu	37	chr20	62407104	62407104	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccccagcacgtcggccttCagcgacagcaggctgttctt	10	16	2	0	rs3827026	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62407104C>T	ENST00000245663.4	-	3	1299	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	ZBTB46_ENST00000395104.1_Silent_p.L383L|ZBTB46_ENST00000302995.2_Silent_p.L383L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	383					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGGCCTTCAGCGACAGCA	0.687											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	411	0.0820687	0.003	0.0634	5008	,	,		16782	0.0784		0.1272	False		,,,				2504	0.1595				p.L383L		Atlas-SNP	.											.	ZBTB46	72	.	0			c.G1149A						PASS	.	C		103,4303	81.9+/-120.4	0,103,2100	52	55	54		1149	-1.6	0.7	20	dbSNP_107	54	1088,7512	226.2+/-262.0	77,934,3289	no	coding-synonymous	ZBTB46	NM_025224.3		77,1037,5389	TT,TC,CC		12.6512,2.3377,9.1573		383/590	62407104	1191,11815	2203	4300	6503	SO:0001819	synonymous_variant	140685	exon3			GGCCTTCAGCGAC	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1149G>A	20.37:g.62407104C>T		Somatic	152	0	0	1061	WXS	Illumina HiSeq	Phase_I	135	60	0.444444	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																			C|0.909;T|0.091	0.091	strong		0.687	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		T	62407104	C	T	62407104	2	4	23	1	0	0	0	0	0	0	0	1	17544	813	29	2		2	ZBTB46	20	62407104	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	84814	62407104	618416	4639	21095										
C20orf135	140701	hgsc.bcm.edu	37	chr20	62492922	62492922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catctgcttcgtgaaggcgcTggtgcgcgtgttcaagatct	13	10	3	2	rs2281534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62492922T>A	ENST00000369916.3	+	1	357	c.29T>A	c.(28-30)cTg>cAg	p.L10Q	C20ORF135_ENST00000601296.1_Missense_Mutation_p.Q99L	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	10			L -> Q (in dbSNP:rs2281534).				hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GTGAAGGCGCTGGTGCGCGTG	0.677													T|||	329	0.0656949	0.0136	0.0548	5008	,	,		11583	0.129		0.0706	False		,,,				2504	0.0736				p.L10Q		Atlas-SNP	.											.	ABHD16B	22	.	0			c.T29A						PASS	.	T	GLN/LEU	73,4309		0,73,2118	25	16	19		29	3.8	1	20	dbSNP_100	19	598,7952		8,582,3685	yes	missense	ABHD16B	NM_080622.3	113	8,655,5803	AA,AT,TT		6.9942,1.6659,5.1887	probably-damaging	10/470	62492922	671,12261	2191	4275	6466	SO:0001583	missense	140701	exon1			AGGCGCTGGTGCG		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.29T>A	20.37:g.62492922T>A	ENSP00000358932:p.Leu10Gln	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	113	61	0.539823	NM_080622		Missense_Mutation	SNP	ENST00000369916.3	37	CCDS13539.1	154	0.07051282051282051	8	0.016260162601626018	20	0.055248618784530384	72	0.1258741258741259	54	0.0712401055408971	T	19.21	3.784167	0.70222	0.016659	0.069942	ENSG00000183260	ENST00000369916	T	0.54866	0.55	3.77	3.77	0.43336	.	0.612694	0.15192	U	0.275503	T	0.01454	0.0047	M	0.76727	2.345	0.35373	P	0.21074700000000002	D	0.76494	0.999	P	0.61800	0.894	T	0.46317	-0.9200	9	0.87932	D	0	-8.8752	10.7261	0.46068	0.0:0.0:0.0:1.0	rs2281534	10	Q9H3Z7	ABHGB_HUMAN	Q	10	ENSP00000358932:L10Q	ENSP00000358932:L10Q	L	+	2	0	ABHD16B	61963366	0.986000	0.35501	0.987000	0.45799	0.990000	0.78478	4.022000	0.57203	1.476000	0.48215	0.533000	0.62120	CTG	T|0.942;A|0.058	0.058	strong		0.677	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			A	62492922	T	A	62492922	3	1	23	1	0	0	0	0	1	0	0	0	2088	1580	55	5	31	5	C20orf135	20	62492922	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	85818	62492922	532598	4640	21096										
ZNF512B	57473	hgsc.bcm.edu	37	chr20	62591460	62591460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtcctggctcctgtgtttGggaggtgggtctgctgatgt	17	7	1	1	rs45570933	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62591460G>A	ENST00000450537.1	-	17	2520	c.2460C>T	c.(2458-2460)ccC>ccT	p.P820P	ZNF512B_ENST00000217130.3_Silent_p.P820P|ZNF512B_ENST00000369888.1_Silent_p.P820P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	820					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCTGTGTTTGGGAGGTGGGT	0.567													G|||	102	0.0203674	0.0038	0.036	5008	,	,		18765	0.0		0.0606	False		,,,				2504	0.0112				p.P820P		Atlas-SNP	.											.	ZNF512B	72	.	0			c.C2460T						PASS	.	G		65,4339	59.3+/-96.0	0,65,2137	83	90	88		2460	3.9	0.3	20	dbSNP_127	88	606,7994	158.6+/-212.1	23,560,3717	no	coding-synonymous	ZNF512B	NM_020713.1		23,625,5854	AA,AG,GG		7.0465,1.4759,5.16		820/893	62591460	671,12333	2202	4300	6502	SO:0001819	synonymous_variant	57473	exon17			GTGTTTGGGAGGT	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2460C>T	20.37:g.62591460G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	92	37	0.402174	NM_020713	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																			G|0.955;A|0.045	0.045	strong		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62591460	G	A	62591460	2	1	23	1	0	0	0	0	0	0	0	1	17954	1335	47	2		2	ZNF512B	20	62591460	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	98538	62591460	434060	4641	21097										
C20orf201	198437	hgsc.bcm.edu	37	chr20	62714783	62714783	+	3'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcgtcgcacactctcagtCgccgtcaccgcgggaagatg	13	15	2	1	rs6010717	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62714783C>G	ENST00000302096.4	-	0	729				OPRL1_ENST00000336866.2_Intron|OPRL1_ENST00000349451.3_5'Flank|C20orf201_ENST00000308906.2_Silent_p.A226A|OPRL1_ENST00000355631.4_Intron			Q8TD35	LKAM1_HUMAN																			CACTCTCAGTCGCCGTCACCG	0.647													C|||	3128	0.624601	0.6422	0.6628	5008	,	,		12748	0.7093		0.6531	False		,,,				2504	0.4571				p.A226A		Atlas-SNP	.											C20orf201,NS,carcinoma,0,1	C20orf201	4	1	0			c.G678C						PASS	.	C	,,	2796,1604		875,1046,279	21	23	22		,678,	1.4	0	20	dbSNP_114	22	5362,3220		1675,2012,604	no	intron,coding-synonymous,intron	OPRL1,C20orf201	NM_000913.4,NM_001007125.1,NM_182647.2	,,	2550,3058,883	GG,GC,CC		37.5204,36.4545,37.1591	,,	,226/241,	62714783	8158,4824	2200	4291	6491	SO:0001624	3_prime_UTR_variant	198437	exon2			CTCAGTCGCCGTC																												ENST00000302096.4:c.*5G>C	20.37:g.62714783C>G		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	65	36	0.553846	NM_001007125	Q8N419|Q8TD36	Silent	SNP	ENST00000302096.4	37																																																																																				C|0.368;G|0.632	0.632	strong		0.647	C20orf201-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000080270.2			G	62714783	C	G	62714783	1	3	23	0	1	0	0	0	0	0	0	0	2104	871	31	4		4	C20orf201	20	62714783	3'UTR	SNP	C	TCGA-GR-7353-01A-11D-2210-10	123323	62714783	310737	4642	21098										
MYT1	4661	hgsc.bcm.edu	37	chr20	62850358	62850358	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgggagatgcctgagaacctCagcacgaagccacaggacct	12	12	1	2	rs41279348	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr20:62850358C>T	ENST00000328439.1	+	12	2305	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	MYT1_ENST00000536311.1_Silent_p.L674L|MYT1_ENST00000360149.4_Silent_p.L349L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGAGAACCTCAGCACGAAGC	0.592													C|||	398	0.0794728	0.0234	0.0821	5008	,	,		19551	0.0685		0.1282	False		,,,				2504	0.1145				p.L647L	GBM(59;481 1041 20555 21139 33705)	Atlas-SNP	.											.	MYT1	152	.	0			c.C1941T						PASS	.	C		197,4209	123.7+/-161.0	5,187,2011	60	48	52		1941	5.3	1	20	dbSNP_127	52	1115,7485	229.6+/-264.2	72,971,3257	no	coding-synonymous	MYT1	NM_004535.2		77,1158,5268	TT,TC,CC		12.9651,4.4712,10.0877		647/1122	62850358	1312,11694	2203	4300	6503	SO:0001819	synonymous_variant	4661	exon12			GAACCTCAGCACG	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1941C>T	20.37:g.62850358C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	130	67	0.515385	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																			C|0.907;T|0.093	0.093	strong		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62850358	C	T	62850358	2	4	23	1	0	0	0	0	0	0	0	1	10106	813	29	2		2	MYT1	20	62850358	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	135575	62850358	175162	4643	21099										
TPTE	7179	hgsc.bcm.edu	37	chr21	10941955	10941955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttccagaagatggaaatgAcatagcaataatacgttcta	7	8	1	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:10941955A>G	ENST00000361285.4	-	14	1077	c.748T>C	c.(748-750)Tca>Cca	p.S250P	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S212P|TPTE_ENST00000298232.7_Missense_Mutation_p.S232P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	250	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGGAAATGACATAGCAATA	0.289																																					p.S250P		Atlas-SNP	.											TPTE_ENST00000361285,NS,carcinoma,+1,2	TPTE	513	2	0			c.T748C						scavenged	.						212	203	206					21																	10941955		2203	4297	6500	SO:0001583	missense	7179	exon14			GAAATGACATAGC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.748T>C	21.37:g.10941955A>G	ENSP00000355208:p.Ser250Pro	Somatic	450	0	0		WXS	Illumina HiSeq	Phase_I	698	8	0.0114613	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.37	1.332388	0.24167	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98849	-5.18;-5.18;-5.18	1.8	1.8	0.24995	Phosphatase tensin type (1);	0.000000	0.85682	U	0.000000	D	0.98963	0.9647	M	0.89658	3.05	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.998;0.999;0.973	D	0.98773	1.0729	10	0.72032	D	0.01	-6.2679	7.6104	0.28126	1.0:0.0:0.0:0.0	.	212;232;250	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	P	232;250;212	ENSP00000298232:S232P;ENSP00000355208:S250P;ENSP00000344441:S212P	ENSP00000298232:S232P	S	-	1	0	TPTE	9963826	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	6.862000	0.75484	1.084000	0.41184	0.163000	0.16589	TCA	.	.	none		0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			G	10941955	A	G	10941955	3	3	23	1	0	0	0	0	1	0	0	0	16427	275	10	2	951	2	TPTE	21	10941955	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10		10941955	37187940	4644	21100										
TPTE	7179	hgsc.bcm.edu	37	chr21	10942756	10942756	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatccatcccttgtgtatcGccttttgttttctgaaacct	5	11	1	1	rs1810540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:10942756G>A	ENST00000361285.4	-	13	1014	c.685C>T	c.(685-687)Cga>Tga	p.R229*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R191*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.R211*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	229	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTGTATCGCCTTTTGTTT	0.323																																					p.R229X		Atlas-SNP	.											TPTE_ENST00000361285,NS,carcinoma,+1,4	TPTE	513	4	0			c.C685T						scavenged	.						460	404	423					21																	10942756		2203	4300	6503	SO:0001587	stop_gained	7179	exon13			TGTATCGCCTTTT	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.685C>T	21.37:g.10942756G>A	ENSP00000355208:p.Arg229*	Somatic	411	3	0.00729927		WXS	Illumina HiSeq	Phase_I	640	224	0.35	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	37	6.526122	0.97637	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.73	0.513	0.17000	.	0.060960	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0328	8.5255	0.33302	0.0:0.0:0.5862:0.4138	rs1810540;rs3761314;rs59614997;rs1810540	.	.	.	X	211;229;191	.	ENSP00000298232:R211X	R	-	1	2	TPTE	9964627	0.999000	0.42202	0.858000	0.33744	0.576000	0.36127	2.540000	0.45727	-0.040000	0.13580	0.194000	0.17425	CGA	G|0.905;A|0.095	0.095	strong		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10942756	G	A	10942756	4	1	23	1	0	0	0	0	0	1	0	0	16427	1095	38	1	1018	1	TPTE	21	10942756	Nonsense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	801	10942756	37187139	4645	21101										
TPTE	7179	hgsc.bcm.edu	37	chr21	10942925	10942927	+	In_Frame_Del	DEL	CTT	CTT	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttttgcccacttacccgcCttcttatcagcttttcaagt					rs113444703|rs386816290|rs3047743|rs558478158		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:10942925_10942927delCTT	ENST00000361285.4	-	12	989_991	c.660_662delAAG	c.(658-663)agaagg>agg	p.220_221RR>R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_In_Frame_Del_p.182_183RR>R|TPTE_ENST00000298232.7_In_Frame_Del_p.202_203RR>R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	220					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTACCCGCCTTCTTATCAGCT	0.32																																					p.221_221del		Pindel	.											.	TPTE	513	.	0			c.661_663del						PASS	.																																			SO:0001651	inframe_deletion	7179	exon12			.	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.660_662delAAG	21.37:g.10942928_10942930delCTT	ENSP00000355208:p.Arg222del	Somatic	536	.	.		WXS	Illumina HiSeq	Phase_I	816	129	0.158	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	In_Frame_Del	DEL	ENST00000361285.4	37	CCDS13560.2																																																																																			CTT|0.500;-|0.500	0.500	strong		0.32	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			-	10942927	CTT	-	10942925	7	5	23	1	0	1	0	1	0	0	0	0	16427	681	24	0	1045	0	TPTE	21	10942925	In_Frame_Del	DEL	CTT	TCGA-GR-7353-01A-11D-2210-10	169	10942925	37186970	4646	21102										
TPTE	7179	hgsc.bcm.edu	37	chr21	10943003	10943003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaataataagtcgtagaagtCgaagtaaatgtgtccatcta	9	5	1	1	rs1810856	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:10943003C>T	ENST00000361285.4	-	12	913	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R157Q|TPTE_ENST00000298232.7_Missense_Mutation_p.R177Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	195			R -> Q (in dbSNP:rs1810856).		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGTAGAAGTCGAAGTAAATG	0.313																																					p.R195Q		Atlas-SNP	.											TPTE_ENST00000361285,lower_third,carcinoma,-1,8	TPTE	513	8	0			c.G584A						scavenged	.						72	67	69					21																	10943003		2203	4299	6502	SO:0001583	missense	7179	exon12			AGAAGTCGAAGTA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.584G>A	21.37:g.10943003C>T	ENSP00000355208:p.Arg195Gln	Somatic	281	2	0.00711744		WXS	Illumina HiSeq	Phase_I	525	146	0.278095	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.95	1.494560	0.26774	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98028	-4.67;-4.67;-4.67	2.07	1.16	0.20824	Ion transport (1);	0.072998	0.56097	U	0.000040	D	0.97368	0.9139	M	0.75615	2.305	0.45733	D	0.998638	D;D;D	0.65815	0.995;0.995;0.994	P;P;P	0.56788	0.795;0.795;0.806	D	0.95693	0.8742	10	0.72032	D	0.01	-5.7066	6.6713	0.23070	0.0:0.836:0.0:0.164	rs1810856;rs59194479	157;177;195	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	177;195;157	ENSP00000298232:R177Q;ENSP00000355208:R195Q;ENSP00000344441:R157Q	ENSP00000298232:R177Q	R	-	2	0	TPTE	9964874	0.005000	0.15991	0.035000	0.18076	0.042000	0.13812	0.889000	0.28282	0.423000	0.26033	0.194000	0.17425	CGA	C|0.923;T|0.077	0.077	strong		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10943003	C	T	10943003	3	4	23	1	0	0	0	0	1	0	0	0	16427	884	31	1	1123	1	TPTE	21	10943003	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	78	10943003	37186892	4647	21103										
RBM11	54033	hgsc.bcm.edu	37	chr21	15599340	15599340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagctcatataaatggactcAccaacaaccaagtgactctg	6	12	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:15599340A>G	ENST00000400577.3	+	5	581	c.572A>G	c.(571-573)cAc>cGc	p.H191R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	191					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAATGGACTCACCAACAACCA	0.453																																					p.H191R		Atlas-SNP	.											RBM11,NS,carcinoma,0,1	RBM11	41	1	0			c.A572G						scavenged	.						271	258	263					21																	15599340		1964	4154	6118	SO:0001583	missense	54033	exon5			GGACTCACCAACA	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.572A>G	21.37:g.15599340A>G	ENSP00000383421:p.His191Arg	Somatic	368	6	0.0163043		WXS	Illumina HiSeq	Phase_I	471	21	0.044586	NM_144770	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	1.477	-0.558202	0.03967	.	.	ENSG00000185272	ENST00000400577	T	0.07216	3.21	1.87	0.568	0.17333	.	1.040610	0.07512	N	0.908963	T	0.03305	0.0096	N	0.08118	0	0.20307	N	0.999915	B	0.16166	0.016	B	0.04013	0.001	T	0.46775	-0.9167	10	0.17832	T	0.49	.	0.217	0.00163	0.3713:0.2386:0.1563:0.2338	.	191	P57052	RBM11_HUMAN	R	191	ENSP00000383421:H191R	ENSP00000383421:H191R	H	+	2	0	RBM11	14521211	0.764000	0.28473	0.756000	0.31282	0.615000	0.37417	0.317000	0.19487	0.130000	0.18549	0.164000	0.16699	CAC	.	.	none		0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		G	15599340	A	G	15599340	3	3	23	1	0	0	0	0	1	0	0	0	13112	159	6	2	590	2	RBM11	21	15599340	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4656337	15599340	32530555	4648	21104										
USP25	29761	hgsc.bcm.edu	37	chr21	17181168	17181168	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acacaaattattagattggtTagaagatgccttccaaatga	7	6	0	4			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:17181168T>G	ENST00000285679.6	+	8	1190	c.821T>G	c.(820-822)tTa>tGa	p.L274*	USP25_ENST00000400183.2_Nonsense_Mutation_p.L274*|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Nonsense_Mutation_p.L274*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	274	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTAGATTGGTTAGAAGATGCC	0.333																																					p.L274X		Atlas-SNP	.											.	USP25	156	.	0			c.T821G						PASS	.						76	73	74					21																	17181168		2203	4300	6503	SO:0001587	stop_gained	29761	exon8			ATTGGTTAGAAGA	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.821T>G	21.37:g.17181168T>G	ENSP00000285679:p.Leu274*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	80	15	0.1875	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	T	39	7.408059	0.98265	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7222	0.69314	0.0:0.0:0.0:1.0	.	.	.	.	X	274	.	ENSP00000285679:L274X	L	+	2	0	USP25	16103039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	1.928000	0.55862	0.482000	0.46254	TTA	.	.	none		0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17181168	T	G	17181168	4	3	23	1	0	0	0	0	0	1	0	0	17053	1764	61	5	851	5	USP25	21	17181168	Nonsense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1581828	17181168	30948727	4649	21105										
TMPRSS15	5651	hgsc.bcm.edu	37	chr21	19725280	19725280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaaggagaaaaggtgcttcCctgaatcctttcccattcat	7	10	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:19725280C>T	ENST00000284885.3	-	10	1144	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	371	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G371R(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGGTGCTTCCCTGAATCCTT	0.343																																					p.G371R		Atlas-SNP	.											TMPRSS15,extremity,malignant_melanoma,0,1	TMPRSS15	189	1	1	Substitution - Missense(1)	skin(1)	c.G1111A						scavenged	.						113	122	119					21																	19725280		2203	4300	6503	SO:0001583	missense	5651	exon10			TGCTTCCCTGAAT		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1111G>A	21.37:g.19725280C>T	ENSP00000284885:p.Gly371Arg	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	297	3	0.010101	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755703	0.49362	.	.	ENSG00000154646	ENST00000284885	T	0.02345	4.33	5.2	4.3	0.51218	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.371433	0.23524	N	0.047252	T	0.18676	0.0448	M	0.90019	3.08	0.42726	D	0.993695	D	0.89917	1.0	D	0.76575	0.988	T	0.02313	-1.1178	9	.	.	.	.	13.5122	0.61519	0.0:0.9232:0.0:0.0768	.	371	P98073	ENTK_HUMAN	R	371	ENSP00000284885:G371R	.	G	-	1	0	TMPRSS15	18647151	0.960000	0.32886	0.262000	0.24481	0.311000	0.27955	3.456000	0.53000	1.283000	0.44513	0.655000	0.94253	GGA	.	.	none		0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19725280	C	T	19725280	3	4	23	1	0	0	0	0	1	0	0	0	16243	632	22	2	2012	2	TMPRSS15	21	19725280	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2544112	19725280	28404615	4650	21106										
GRIK1	2897	hgsc.bcm.edu	37	chr21	31062070	31062070	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgctgtcttcatacaccacTgtcactgttttccagttgta	7	11	3	0	rs363538	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31062070T>G	ENST00000399907.1	-	3	933	c.522A>C	c.(520-522)acA>acC	p.T174T	GRIK1_ENST00000327783.4_Silent_p.T174T|GRIK1_ENST00000389124.2_Silent_p.T174T|GRIK1_ENST00000535441.1_Silent_p.T174T|GRIK1_ENST00000389125.3_Silent_p.T174T|GRIK1_ENST00000399914.1_Silent_p.T174T|GRIK1_ENST00000309434.7_Silent_p.T174T|GRIK1_ENST00000399909.1_Silent_p.T174T|GRIK1_ENST00000399913.1_Silent_p.T174T|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	174					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)	CATACACCACTGTCACTGTTT	0.428													G|||	1704	0.340256	0.6755	0.2925	5008	,	,		18444	0.3393		0.1163	False		,,,				2504	0.1524				p.T174T		Atlas-SNP	.											.	GRIK1	293	.	0			c.A522C						PASS	.	G	,	2527,1879	542.2+/-376.0	732,1063,408	216	207	210		522,522	-10	0	21	dbSNP_79	210	973,7627	774.7+/-407.7	62,849,3389	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	794,1912,3797	GG,GT,TT		11.314,42.6464,26.9107	,	174/919,174/906	31062070	3500,9506	2203	4300	6503	SO:0001819	synonymous_variant	2897	exon3			CACCACTGTCACT		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.522A>C	21.37:g.31062070T>G		Somatic	351	0	0		WXS	Illumina HiSeq	Phase_I	393	248	0.631043	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																			T|0.690;G|0.310	0.310	strong		0.428	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			G	31062070	T	G	31062070	2	3	23	1	0	0	0	0	0	0	0	1	6773	1567	55	5		5	GRIK1	21	31062070	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11336790	31062070	17067825	4651	21107										
CLDN8	9073	hgsc.bcm.edu	37	chr21	31587859	31587859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgagcaccaccatgcccgTgatgatgaagatgattccag	11	10	0	6	rs685967	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31587859T>C	ENST00000399899.1	-	1	532	c.385A>G	c.(385-387)Acg>Gcg	p.T129A	CLDN8_ENST00000286809.1_Missense_Mutation_p.T129A	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	129			T -> A (in dbSNP:rs685967).		calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ACCATGCCCGTGATGATGAAG	0.502													T|||	415	0.0828674	0.1997	0.0447	5008	,	,		20250	0.0069		0.0427	False		,,,				2504	0.0716				p.T129A		Atlas-SNP	.											CLDN8,NS,adenocarcinoma,+2,1	CLDN8	40	1	0			c.A385G						PASS	.	T	ALA/THR	690,3716	288.1+/-279.7	52,586,1565	96	86	90		385	3.7	0.8	21	dbSNP_83	90	413,8187	129.0+/-187.1	8,397,3895	yes	missense	CLDN8	NM_199328.2	58	60,983,5460	CC,CT,TT		4.8023,15.6605,8.4807	benign	129/226	31587859	1103,11903	2203	4300	6503	SO:0001583	missense	9073	exon1			TGCCCGTGATGAT	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.385A>G	21.37:g.31587859T>C	ENSP00000382783:p.Thr129Ala	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	130	72	0.553846	NM_199328	D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	CCDS13587.1	132	0.06043956043956044	84	0.17073170731707318	17	0.04696132596685083	3	0.005244755244755245	28	0.036939313984168866	T	0.003	-2.413555	0.00191	0.156605	0.048023	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.86627	-2.15;-2.15	4.84	3.65	0.41850	.	0.365369	0.28521	N	0.015059	T	0.00552	0.0018	N	0.12443	0.215	0.80722	P	0.0	B	0.24576	0.106	B	0.38056	0.264	T	0.30679	-0.9970	9	0.02654	T	1	.	9.126	0.36816	0.3995:0.0:0.0:0.6005	rs685967;rs52813142;rs685967	129	P56748	CLD8_HUMAN	A	129	ENSP00000382783:T129A;ENSP00000286809:T129A	ENSP00000286809:T129A	T	-	1	0	CLDN8	30509730	0.039000	0.19947	0.754000	0.31244	0.273000	0.26683	0.263000	0.18478	0.946000	0.37632	0.528000	0.53228	ACG	T|0.908;C|0.092	0.092	strong		0.502	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		C	31587859	T	C	31587859	3	2	23	1	0	0	0	0	1	0	0	0	3491	1696	59	2	296	2	CLDN8	21	31587859	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	525789	31587859	16542036	4652	21108										
KRTAP24-1	643803	hgsc.bcm.edu	37	chr21	31654809	31654809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgtccaaagcagttggaacCgttgcggagggtttggcagg	16	7	0	0	rs77638540	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31654809C>T	ENST00000340345.4	-	1	467	c.442G>A	c.(442-444)Ggt>Agt	p.G148S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	148						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CAGTTGGAACCGTTGCGGAGG	0.483													C|||	358	0.0714856	0.1513	0.0389	5008	,	,		20814	0.0069		0.0368	False		,,,				2504	0.089				p.G148S		Atlas-SNP	.											.	KRTAP24-1	44	.	0			c.G442A						PASS	.	C	SER/GLY	450,3458		23,404,1527	126	127	127		442	0.9	0	21	dbSNP_131	127	331,7989		9,313,3838	yes	missense	KRTAP24-1	NM_001085455.1	56	32,717,5365	TT,TC,CC		3.9784,11.5148,6.387	benign	148/255	31654809	781,11447	1954	4160	6114	SO:0001583	missense	643803	exon1			TGGAACCGTTGCG	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.442G>A	21.37:g.31654809C>T	ENSP00000339238:p.Gly148Ser	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	277	155	0.559567	NM_001085455	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	114	0.0521978021978022	68	0.13821138211382114	17	0.04696132596685083	3	0.005244755244755245	26	0.03430079155672823	C	11.26	1.587728	0.28268	0.115148	0.039784	ENSG00000188694	ENST00000340345	T	0.03607	3.87	4.96	0.877	0.19145	.	0.655352	0.12549	N	0.459217	T	0.00039	0.0001	L	0.57536	1.79	0.09310	N	1	P	0.52316	0.952	B	0.43225	0.412	T	0.34403	-0.9830	10	0.11794	T	0.64	-0.8583	2.2788	0.04109	0.1556:0.5163:0.1511:0.1771	.	148	Q3LI83	KR241_HUMAN	S	148	ENSP00000339238:G148S	ENSP00000339238:G148S	G	-	1	0	KRTAP24-1	30576680	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	0.034000	0.15491	-0.218000	0.12543	GGT	C|0.951;T|0.049	0.049	strong		0.483	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		T	31654809	C	T	31654809	3	4	23	1	0	0	0	0	1	0	0	0	8542	652	23	1	326	1	KRTAP24-1	21	31654809	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	66950	31654809	16475086	4653	21109										
KRTAP26-1	388818	hgsc.bcm.edu	37	chr21	31692277	31692277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggtagggcagaggtcgatgGaggtgagaggaatatggcgg	21	3	0	2	rs3804007	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31692277G>T	ENST00000360542.3	-	1	330	c.77C>A	c.(76-78)tCc>tAc	p.S26Y		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	26			S -> Y (in dbSNP:rs3804007).			intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTCGATGGAGGTGAGAGG	0.542													G|||	509	0.101637	0.2035	0.0893	5008	,	,		19648	0.0218		0.0527	False		,,,				2504	0.1053				p.S26Y		Atlas-SNP	.											.	KRTAP26-1	58	.	0			c.C77A						PASS	.	G	TYR/SER	806,3600	321.3+/-297.0	62,682,1459	66	68	67		77	4.9	0	21	dbSNP_107	67	512,8088	144.7+/-200.5	15,482,3803	yes	missense	KRTAP26-1	NM_203405.1	144	77,1164,5262	TT,TG,GG		5.9535,18.2932,10.1338	probably-damaging	26/211	31692277	1318,11688	2203	4300	6503	SO:0001583	missense	388818	exon1			TCGATGGAGGTGA	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.77C>A	21.37:g.31692277G>T	ENSP00000353742:p.Ser26Tyr	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	245	141	0.57551	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	171	0.0782967032967033	94	0.1910569105691057	28	0.07734806629834254	9	0.015734265734265736	40	0.052770448548812667	G	12.75	2.031278	0.35797	0.182932	0.059535	ENSG00000197683	ENST00000360542	T	0.05925	3.37	4.95	4.95	0.65309	.	0.351539	0.25878	N	0.027710	T	0.00039	0.0001	M	0.78456	2.415	0.80722	P	0.0	D	0.89917	1.0	D	0.79108	0.992	T	0.01053	-1.1467	9	0.66056	D	0.02	-16.96	14.402	0.67053	0.0:0.0:1.0:0.0	rs3804007;rs52829761;rs3804007	26	Q6PEX3	KR261_HUMAN	Y	26	ENSP00000353742:S26Y	ENSP00000353742:S26Y	S	-	2	0	KRTAP26-1	30614148	0.035000	0.19736	0.040000	0.18447	0.060000	0.15804	1.639000	0.37176	2.664000	0.90586	0.655000	0.94253	TCC	G|0.909;T|0.091	0.091	strong		0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31692277	G	T	31692277	3	4	23	1	0	0	0	0	1	0	0	0	8543	1174	41	4	559	4	KRTAP26-1	21	31692277	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	37468	31692277	16437618	4654	21110										
KRTAP13-2	337959	hgsc.bcm.edu	37	chr21	31744163	31744163	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggatctgacaccactggaCccacagcccactgagtagca	10	14	1	2	rs2009546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31744163C>G	ENST00000399889.2	-	1	394	c.369G>C	c.(367-369)ggG>ggC	p.G123G		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	123						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CACCACTGGACCCACAGCCCA	0.577													C|||	292	0.0583067	0.1036	0.0303	5008	,	,		19441	0.005		0.0398	False		,,,				2504	0.091				p.G123G		Atlas-SNP	.											.	KRTAP13-2	29	.	0			c.G369C						PASS	.	C		414,3992	202.1+/-225.0	9,396,1798	66	63	64		369	-9.3	0	21	dbSNP_92	64	359,8241	119.2+/-178.6	8,343,3949	no	coding-synonymous	KRTAP13-2	NM_181621.3		17,739,5747	GG,GC,CC		4.1744,9.3963,5.9434		123/176	31744163	773,12233	2203	4300	6503	SO:0001819	synonymous_variant	337959	exon1			ACTGGACCCACAG	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.369G>C	21.37:g.31744163C>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	219	125	0.570776	NM_181621		Silent	SNP	ENST00000399889.2	37	CCDS13589.1																																																																																			C|0.947;G|0.053	0.053	strong		0.577	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			G	31744163	C	G	31744163	2	3	23	1	0	0	0	0	0	0	0	1	8523	494	18	4		4	KRTAP13-2	21	31744163	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	51886	31744163	16385732	4655	21111										
KRTAP13-3	337960	hgsc.bcm.edu	37	chr21	31797919	31797919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcagggagcagcagctattGgatccaaaaccccgagaccc	10	14	1	1	rs73356706	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31797919G>A	ENST00000390690.2	-	1	367	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	104						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGCAGCTATTGGATCCAAAAC	0.532													-|||	210	0.0419329	0.1505	0.0144	5008	,	,		18568	0.0		0.001	False		,,,				2504	0.0				p.S104S		Atlas-SNP	.											.	KRTAP13-3	47	.	0			c.C312T						PASS	.	G		432,3908		23,386,1761	51	57	55		312	3.4	0.3	21	dbSNP_130	55	9,8569		0,9,4280	no	coding-synonymous	KRTAP13-3	NM_181622.1		23,395,6041	AA,AG,GG		0.1049,9.9539,3.4138		104/173	31797919	441,12477	2170	4289	6459	SO:0001819	synonymous_variant	337960	exon1			GCTATTGGATCCA	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.312C>T	21.37:g.31797919G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	171	61	0.356725	NM_181622	Q3LI78	Silent	SNP	ENST00000390690.2	37	CCDS13591.1																																																																																			G|0.975;A|0.025	0.025	strong		0.532	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			A	31797919	G	A	31797919	2	1	23	1	0	0	0	0	0	0	0	1	8524	1335	47	2		2	KRTAP13-3	21	31797919	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	53756	31797919	16331976	4656	21112										
KRTAP13-4	284827	hgsc.bcm.edu	37	chr21	31802629	31802629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctctagaaacttctcctcCcgctcctttgggggctacct	8	15	2	1	rs73356729	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31802629C>T	ENST00000334068.2	+	1	58	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						ACTTCTCCTCCCGCTCCTTTG	0.547													-|||	220	0.0439297	0.1581	0.0144	5008	,	,		18637	0.0		0.001	False		,,,				2504	0.0				p.S12S	NSCLC(196;2401 3038 18004 35753)	Atlas-SNP	.											.	KRTAP13-4	46	.	0			c.C36T						PASS	.	C		473,3933		25,423,1755	109	111	110		36	0.1	0.1	21	dbSNP_130	110	10,8590		0,10,4290	no	coding-synonymous	KRTAP13-4	NM_181600.1		25,433,6045	TT,TC,CC		0.1163,10.7354,3.7137		12/161	31802629	483,12523	2203	4300	6503	SO:0001819	synonymous_variant	284827	exon1			CTCCTCCCGCTCC	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.36C>T	21.37:g.31802629C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	240	79	0.329167	NM_181600	A2RRL3	Silent	SNP	ENST00000334068.2	37	CCDS13592.1																																																																																			C|0.963;T|0.037	0.037	strong		0.547	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			T	31802629	C	T	31802629	2	4	23	1	0	0	0	0	0	0	0	1	8525	610	22	2		2	KRTAP13-4	21	31802629	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4710	31802629	16327266	4657	21113										
KRTAP19-6	337973	hgsc.bcm.edu	37	chr21	31914019	31914019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atccttcacggcatgatgggCggcagcagccatatctatag	11	11	2	1	rs77807247	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31914019C>T	ENST00000334046.5	-	1	164	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	45						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						GCATGATGGGCGGCAGCAGCC	0.498													c|||	161	0.0321486	0.1135	0.0115	5008	,	,		14661	0.0		0.001	False		,,,				2504	0.002				p.R45H		Atlas-SNP	.											.	KRTAP19-6	16	.	0			c.G134A						PASS	.	C	HIS/ARG	371,4035	188.5+/-214.9	13,345,1845	110	120	116		134	-6.1	0	21	dbSNP_131	116	12,8588	9.8+/-36.6	0,12,4288	yes	missense	KRTAP19-6	NM_181612.2	29	13,357,6133	TT,TC,CC		0.1395,8.4203,2.9448	benign	45/59	31914019	383,12623	2203	4300	6503	SO:0001583	missense	337973	exon1			GATGGGCGGCAGC	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"Keratin associated proteins"	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.134G>A	21.37:g.31914019C>T	ENSP00000375107:p.Arg45His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	141	47	0.333333	NM_181612	Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	CCDS13598.1	64	0.029304029304029304	58	0.11788617886178862	6	0.016574585635359115	0	0.0	0	0.0	c	6.926	0.540492	0.13250	0.084203	0.001395	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.11169	2.8	4.39	-6.09	0.02145	.	0.598882	0.13443	N	0.387478	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.32587	-0.9901	9	0.87932	D	0	-1.818	7.3473	0.26670	0.1168:0.3112:0.0:0.5719	.	45	Q3LI70	KR196_HUMAN	H	45	ENSP00000375107:R45H	ENSP00000375107:R45H	R	-	2	0	KRTAP19-6	30835890	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.929000	0.03976	-1.347000	0.02208	-1.903000	0.00527	CGC	C|0.969;T|0.031	0.031	strong		0.498	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			T	31914019	C	T	31914019	3	4	23	1	0	0	0	0	1	0	0	0	8533	768	27	1	46	1	KRTAP19-6	21	31914019	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	111390	31914019	16215876	4658	21114										
KRTAP6-1	337966	hgsc.bcm.edu	37	chr21	31986163	31986163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atagccatagcccaggcctcCatagccacagaacccatagc	7	16	0	1	rs138494765		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:31986163C>T	ENST00000329122.2	-	1	86	c.61G>A	c.(61-63)Gga>Aga	p.G21R	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	21						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CCCAGGCCTCCATAGCCACAG	0.592																																					p.G21R		Atlas-SNP	.											.	KRTAP6-1	21	.	0			c.G61A						PASS	.	C	ARG/GLY	0,4406		0,0,2203	181	178	179		61	3.1	1	21	dbSNP_134	179	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRTAP6-1	NM_181602.1	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	21/72	31986163	2,13004	2203	4300	6503	SO:0001583	missense	337966	exon1			GGCCTCCATAGCC	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.61G>A	21.37:g.31986163C>T	ENSP00000332690:p.Gly21Arg	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	383	158	0.412533	NM_181602		Missense_Mutation	SNP	ENST00000329122.2	37	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802250	0.31869	0.0	2.33E-4	ENSG00000184724	ENST00000329122	T	0.23552	1.9	4.91	3.08	0.35506	.	0.237368	0.21800	U	0.068932	T	0.20740	0.0499	.	.	.	0.26580	N	0.973391	B	0.28552	0.215	B	0.28991	0.097	T	0.17899	-1.0354	9	0.87932	D	0	.	8.6058	0.33773	0.0:0.7606:0.1541:0.0853	.	21	Q3LI64	KRA61_HUMAN	R	21	ENSP00000332690:G21R	ENSP00000332690:G21R	G	-	1	0	KRTAP6-1	30908034	0.000000	0.05858	0.982000	0.44146	0.940000	0.58332	-1.080000	0.03407	0.786000	0.33708	0.643000	0.83706	GGA	C|1.000;T|0.000	0.000	weak		0.592	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		T	31986163	C	T	31986163	3	4	23	1	0	0	0	0	1	0	0	0	8569	603	21	2	158	2	KRTAP6-1	21	31986163	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	72144	31986163	16143732	4659	21115										
KRTAP21-2	337978	hgsc.bcm.edu	37	chr21	32119495	32119495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catatccacagcccccacagCagtttctgtagtagttgcaa	7	13	1	0	rs12053674	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:32119495C>G	ENST00000333892.2	-	1	56	c.26G>C	c.(25-27)tGc>tCc	p.C9S		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	9				C -> S (in Ref. 1; BAE46374). {ECO:0000305}.		intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						gccccCACAGCAGTTTCTGTA	0.493													G|||	1043	0.208267	0.385	0.0519	5008	,	,		20384	0.3571		0.0686	False		,,,				2504	0.0706				p.C9S		Atlas-SNP	.											.	KRTAP21-2	16	.	0			c.G26C						PASS	.	G	SER/CYS	1449,2957	682.0+/-404.1	230,989,984	152	153	153		26	-0.7	0	21	dbSNP_120	153	410,8190	801.0+/-407.4	12,386,3902	yes	missense	KRTAP21-2	NM_181617.1	112	242,1375,4886	GG,GC,CC		4.7674,32.887,14.2934	benign	9/84	32119495	1859,11147	2203	4300	6503	SO:0001583	missense	337978	exon1			CCACAGCAGTTTC	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"Keratin associated proteins"	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.26G>C	21.37:g.32119495C>G	ENSP00000334287:p.Cys9Ser	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	272	88	0.323529	NM_181617		Missense_Mutation	SNP	ENST00000333892.2	37	CCDS13605.1	443	0.20283882783882784	160	0.3252032520325203	17	0.04696132596685083	210	0.36713286713286714	56	0.07387862796833773	G	1.078	-0.667704	0.03428	0.32887	0.047674	ENSG00000187026	ENST00000333892	T	0.08634	3.07	4.81	-0.735	0.11137	.	0.422367	0.17443	N	0.174059	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	8	0.02654	T	1	-0.3615	3.4867	0.07622	0.0867:0.3986:0.2439:0.2709	rs12053674;rs52790703;rs12053674	9	Q3LI59	KR212_HUMAN	S	9	ENSP00000334287:C9S	ENSP00000334287:C9S	C	-	2	0	KRTAP21-2	31041366	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.538000	0.06120	-0.040000	0.13580	-0.371000	0.07208	TGC	C|0.840;G|0.160	0.160	strong		0.493	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			G	32119495	C	G	32119495	3	3	23	1	0	0	0	0	1	0	0	0	8539	710	25	4	227	4	KRTAP21-2	21	32119495	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	133332	32119495	16010400	4660	21116										
TIAM1	7074	hgsc.bcm.edu	37	chr21	32638549	32638549	+	Missense_Mutation	SNP	C	C	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaatttgctccccggccccCcgtttgctgtcactccagag					rs386817934|rs2070417	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:32638549C>A	ENST00000286827.3	-	5	1211	c.740G>T	c.(739-741)gGg>gTg	p.G247V	TIAM1_ENST00000541036.1_Missense_Mutation_p.G247V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	247			G -> R (in dbSNP:rs2070418).|G -> V (in dbSNP:rs2070417).	G -> M (in Ref. 1; AAA98443). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCCGGCCCCCCGTTTGCTGT	0.532													C|||	1069	0.213458	0.0159	0.2594	5008	,	,		16243	0.4107		0.1133	False		,,,				2504	0.3476				p.G247V		Atlas-SNP	.											.	TIAM1	522	.	0			c.G740T						PASS	.	C	VAL/GLY	145,4261	86.3+/-125.0	6,133,2064	69	73	72		740	4.4	1	21	dbSNP_96	72	711,7889	137.1+/-194.1	38,635,3627	yes	missense	TIAM1	NM_003253.2	109	44,768,5691	AA,AC,CC		8.2674,3.291,6.5816	probably-damaging	247/1592	32638549	856,12150	2203	4300	6503	SO:0001583	missense	7074	exon5			GGCCCCCCGTTTG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.740G>T	21.37:g.32638549C>A	ENSP00000286827:p.Gly247Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	122	49	0.401639	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	353	0.16163003663003664	7	0.014227642276422764	80	0.22099447513812154	196	0.34265734265734266	70	0.09234828496042216	C	16.56	3.156271	0.57259	0.03291	0.082674	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.41065	1.03;1.01	5.4	4.45	0.53987	.	0.367039	0.30869	N	0.008718	T	0.00012	0.0000	L	0.36672	1.1	0.09310	P	0.999999663474	B;B;B	0.30281	0.275;0.18;0.18	B;B;B	0.30646	0.118;0.055;0.055	T	0.33803	-0.9854	9	0.52906	T	0.07	.	14.725	0.69339	0.0:0.9206:0.0:0.0794	rs2070417;rs59059207;rs2070417	247;247;247	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	247;88;247	ENSP00000286827:G247V;ENSP00000441570:G247V	ENSP00000286827:G247V	G	-	2	0	TIAM1	31560420	0.938000	0.31826	1.000000	0.80357	0.994000	0.84299	4.159000	0.58157	2.803000	0.96430	0.585000	0.79938	GGG	C|0.874;A|0.119	0.119	strong		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32638549	C	A	32638549	3	1	23	1	0	0	0	0	1	0	0	0	15887	623	22	4	4135	4	TIAM1	21	32638549	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	519054	32638549	15491346	4661	21117	420	2								
TIAM1	7074	hgsc.bcm.edu	37	chr21	32638550	32638550	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatttgctccccggcccccCgtttgctgtcactccagagt					rs2070418|rs386817934	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:32638550C>T	ENST00000286827.3	-	5	1210	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	TIAM1_ENST00000541036.1_Missense_Mutation_p.G247R|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	247			G -> R (in dbSNP:rs2070418).|G -> V (in dbSNP:rs2070417).	G -> M (in Ref. 1; AAA98443). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCGGCCCCCCGTTTGCTGTC	0.537													C|||	1069	0.213458	0.0159	0.2594	5008	,	,		16363	0.4107		0.1133	False		,,,				2504	0.3476				p.G247R		Atlas-SNP	.											.	TIAM1	522	.	0			c.G739A						PASS	.	C	ARG/GLY	148,4258	88.2+/-126.9	6,136,2061	69	73	71		739	4.5	1	21	dbSNP_96	71	730,7870	141.4+/-197.7	39,652,3609	yes	missense	TIAM1	NM_003253.2	125	45,788,5670	TT,TC,CC		8.4884,3.3591,6.7507	probably-damaging	247/1592	32638550	878,12128	2203	4300	6503	SO:0001583	missense	7074	exon5			GCCCCCCGTTTGC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.739G>A	21.37:g.32638550C>T	ENSP00000286827:p.Gly247Arg	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	122	49	0.401639	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	351	0.16071428571428573	7	0.014227642276422764	80	0.22099447513812154	196	0.34265734265734266	68	0.08970976253298153	C	13.23	2.176241	0.38413	0.033591	0.084884	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.39229	1.11;1.09	5.4	4.49	0.54785	.	0.367039	0.30869	N	0.008718	T	0.00012	0.0000	L	0.36672	1.1	0.25471	P	0.9878204	P;P;P	0.46656	0.882;0.813;0.813	B;B;B	0.34824	0.19;0.093;0.093	T	0.42050	-0.9474	9	0.44086	T	0.13	.	17.6719	0.88221	0.0:0.8674:0.1326:0.0	rs2070418;rs56928974;rs2070418	247;247;247	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	247;88;247	ENSP00000286827:G247R;ENSP00000441570:G247R	ENSP00000286827:G247R	G	-	1	0	TIAM1	31560421	0.911000	0.30947	0.998000	0.56505	0.993000	0.82548	2.031000	0.41117	2.803000	0.96430	0.585000	0.79938	GGG	C|0.874;A|0.001	.	strong		0.537	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32638550	C	T	32638550	3	4	23	1	0	0	0	0	1	0	0	0	15887	652	23	1	4136	1	TIAM1	21	32638550	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1	32638550	15491345	4662	21118	420	2								
SFRS15	57466	hgsc.bcm.edu	37	chr21	33044408	33044408	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctggcattccaccaggcctAacaaaggggccatgcggtgg	13	13	0	0	rs73201506	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:33044408A>G	ENST00000286835.7	-	20	3130	c.2748T>C	c.(2746-2748)gtT>gtC	p.V916V	SCAF4_ENST00000434667.3_Silent_p.V901V|SCAF4_ENST00000399804.1_Silent_p.V894V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	916						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CACCAGGCCTAACAAAGGGGC	0.662													A|||	83	0.0165735	0.0008	0.0187	5008	,	,		15066	0.003		0.0596	False		,,,				2504	0.0061				p.V916V		Atlas-SNP	.											.	SCAF4	142	.	0			c.T2748C						PASS	.	A	,,	41,4365	40.0+/-72.8	0,41,2162	33	33	33		2703,2682,2748	-1.9	0.8	21	dbSNP_130	33	392,8206	117.7+/-177.3	14,364,3921	no	coding-synonymous,coding-synonymous,coding-synonymous	SCAF4	NM_001145444.1,NM_001145445.1,NM_020706.2	,,	14,405,6083	GG,GA,AA		4.5592,0.9305,3.3297	,,	901/1133,894/1126,916/1148	33044408	433,12571	2203	4299	6502	SO:0001819	synonymous_variant	57466	exon20			AGGCCTAACAAAG	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2748T>C	21.37:g.33044408A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	82	24	0.292683	NM_020706	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	CCDS33537.1																																																																																			A|0.972;G|0.028	0.028	strong		0.662	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		G	33044408	A	G	33044408	2	3	23	1	0	0	0	0	0	0	0	1	14171	349	13	2		2	SFRS15	21	33044408	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	405858	33044408	15085487	4663	21119										
SFRS15	57466	hgsc.bcm.edu	37	chr21	33068937	33068937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggtgcagcagcagcaggcaCggtggcggtgggtgcagggg	23	8	0	0	rs78537042	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:33068937C>A	ENST00000286835.7	-	8	1286	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	SCAF4_ENST00000434667.3_Missense_Mutation_p.V287L|SCAF4_ENST00000399804.1_Missense_Mutation_p.V302L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	302				V -> L (in Ref. 6; BAA86486). {ECO:0000305}.		nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCAGCAGGCACGGTGGCGGTG	0.532													C|||	131	0.0261581	0.0023	0.049	5008	,	,		12780	0.0		0.0746	False		,,,				2504	0.0194				p.V302L		Atlas-SNP	.											.	SCAF4	142	.	0			c.G904T						PASS	.	C	LEU/VAL,LEU/VAL,LEU/VAL	82,4324	69.2+/-107.0	3,76,2124	66	69	68		904,904,859	-1	0	21	dbSNP_132	68	699,7901	172.0+/-222.8	37,625,3638	yes	missense,missense,missense	SCAF4	NM_020706.2,NM_001145445.1,NM_001145444.1	32,32,32	40,701,5762	AA,AC,CC		8.1279,1.8611,6.0049	benign,benign,benign	302/1148,302/1126,287/1133	33068937	781,12225	2203	4300	6503	SO:0001583	missense	57466	exon8			CAGGCACGGTGGC	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.904G>T	21.37:g.33068937C>A	ENSP00000286835:p.Val302Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	161	104	0.645963	NM_020706	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	70	0.03205128205128205	2	0.0040650406504065045	18	0.049723756906077346	0	0.0	50	0.06596306068601583	C	4.593	0.110282	0.08780	0.018611	0.081279	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.41400	1.0;1.0;1.02	4.65	-1.02	0.10135	.	1.513160	0.03578	N	0.229706	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09100	-1.0690	10	0.11485	T	0.65	0.5448	9.2428	0.37506	0.0:0.4045:0.0:0.5955	.	287;302;302	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	L	287;302;302	ENSP00000402377:V287L;ENSP00000286835:V302L;ENSP00000382703:V302L	ENSP00000286835:V302L	V	-	1	0	SCAF4	31990808	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.270000	0.02831	-0.193000	0.10415	0.655000	0.94253	GTG	C|0.947;A|0.053	0.053	strong		0.532	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33068937	C	A	33068937	3	1	23	1	0	0	0	0	1	0	0	0	14171	536	19	4	2591	4	SFRS15	21	33068937	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	24529	33068937	15060958	4664	21120										
SON	6651	hgsc.bcm.edu	37	chr21	34926043	34926043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgctccagagattggcatGcaggagattgcattgcattc	11	9	0	2	rs61743204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:34926043G>A	ENST00000356577.4	+	3	4981	c.4506G>A	c.(4504-4506)atG>atA	p.M1502I	SON_ENST00000381679.4_Missense_Mutation_p.M1502I|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M1502I|SON_ENST00000300278.4_Missense_Mutation_p.M1502I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1502					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGATTGGCATGCAGGAGATTG	0.388													G|||	769	0.153554	0.118	0.1816	5008	,	,		23665	0.2351		0.1054	False		,,,				2504	0.1472				p.M1502I		Atlas-SNP	.											.	SON	343	.	0			c.G4506A						PASS	.	G	ILE/MET,ILE/MET	540,3864	240.9+/-251.5	35,470,1697	47	44	45		4506,4506	2	1	21	dbSNP_129	45	759,7841	181.3+/-230.0	41,677,3582	yes	missense,missense	SON	NM_032195.1,NM_138927.1	10,10	76,1147,5279	AA,AG,GG		8.8256,12.2616,9.9892	benign,benign	1502/2304,1502/2427	34926043	1299,11705	2202	4300	6502	SO:0001583	missense	6651	exon3			TGGCATGCAGGAG	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4506G>A	21.37:g.34926043G>A	ENSP00000348984:p.Met1502Ile	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	335|335	0.1533882783882784|0.1533882783882784	61|61	0.12398373983739837|0.12398373983739837	49|49	0.13535911602209943|0.13535911602209943	142|142	0.24825174825174826|0.24825174825174826	83|83	0.10949868073878628|0.10949868073878628	G|G	0.099|0.099	-1.155417|-1.155417	0.01700|0.01700	0.122616|0.122616	0.088256|0.088256	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.10960	.|3.03;3.02;3.0;2.82	5.03|5.03	2.02|2.02	0.26589|0.26589	.|.	.|0.501171	.|0.20410	.|N	.|0.092872	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.22421|0.22421	0.69|0.69	0.39007|0.39007	P|P	0.04052800000000001|0.04052800000000001	.|B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.001	.|B;B;B;B;B	.|0.09377	.|0.001;0.0;0.001;0.001;0.004	T|T	0.44862|0.44862	-0.9300|-0.9300	4|9	.|0.05620	.|T	.|0.96	.|.	5.6576|5.6576	0.17650|0.17650	0.0916:0.0:0.5638:0.3445|0.0916:0.0:0.5638:0.3445	rs61743204|rs61743204	.|1502;1502;1183;1502;1502	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	Y|I	497|1502	.|ENSP00000348984:M1502I;ENSP00000290239:M1502I;ENSP00000300278:M1502I;ENSP00000371095:M1502I	.|ENSP00000290239:M1502I	C|M	+|+	2|3	0|0	SON|SON	33847913|33847913	0.063000|0.063000	0.20901|0.20901	0.972000|0.972000	0.41901|0.41901	0.016000|0.016000	0.09150|0.09150	-0.191000|-0.191000	0.09601|0.09601	0.804000|0.804000	0.34136|0.34136	0.591000|0.591000	0.81541|0.81541	TGC|ATG	G|0.884;A|0.116	0.116	strong		0.388	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34926043	G	A	34926043	3	1	23	1	0	0	0	0	1	0	0	0	14926	1319	46	2	4516	2	SON	21	34926043	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1857106	34926043	13203852	4665	21121										
SON	6651	hgsc.bcm.edu	37	chr21	34945721	34945721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggaaaaaacaaagaaggcaaTaaggaacccatcctagttga	9	7	0	2	rs3174808	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:34945721T>C	ENST00000356577.4	+	9	7468	c.6993T>C	c.(6991-6993)aaT>aaC	p.N2331N	SON_ENST00000470533.1_3'UTR|SON_ENST00000381692.2_Silent_p.N359N|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2331	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGAAGGCAATAAGGAACCCA	0.383													T|||	1450	0.289537	0.2474	0.3242	5008	,	,		18499	0.249		0.328	False		,,,				2504	0.3241				p.N2331N		Atlas-SNP	.											.	SON	343	.	0			c.T6993C						PASS	.	T		1129,3277	401.3+/-331.9	141,847,1215	113	110	111		6993	1.8	1	21	dbSNP_105	111	2805,5791	441.8+/-359.9	460,1885,1953	yes	coding-synonymous	SON	NM_138927.1		601,2732,3168	CC,CT,TT		32.6315,25.6241,30.2569		2331/2427	34945721	3934,9068	2203	4298	6501	SO:0001819	synonymous_variant	6651	exon9			AGGCAATAAGGAA	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6993T>C	21.37:g.34945721T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	165	73	0.442424	NM_138927	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	629	0.288003663003663	121	0.2459349593495935	102	0.281767955801105	150	0.26223776223776224	256	0.33773087071240104	T	5.834	0.338035	0.11013	0.256241	0.326315	ENSG00000159140	ENST00000436227	.	.	.	5.44	1.81	0.25067	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999137549	.	.	.	.	.	.	T	0.32640	-0.9899	3	.	.	.	.	9.5434	0.39266	0.0:0.2748:0.0:0.7252	rs3174808;rs16839001	.	.	.	T	1326	.	.	I	+	2	0	SON	33867591	0.956000	0.32656	1.000000	0.80357	0.976000	0.68499	0.026000	0.13599	0.447000	0.26695	0.477000	0.44152	ATA	T|0.696;C|0.304	0.304	strong		0.383	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34945721	T	C	34945721	2	2	23	1	0	0	0	0	0	0	0	1	14926	1403	49	2		2	SON	21	34945721	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	19678	34945721	13184174	4666	21122										
KCNE1	3753	hgsc.bcm.edu	37	chr21	35821821	35821821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctccagcttgccgtcacTgctgcggggggacctgcggg	17	14	1	0	rs1805127	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:35821821T>C	ENST00000337385.3	-	3	487	c.112A>G	c.(112-114)Agt>Ggt	p.S38G	KCNE1_ENST00000432085.1_Missense_Mutation_p.S38G|KCNE1_ENST00000399289.3_Missense_Mutation_p.S38G|KCNE1_ENST00000399286.2_Missense_Mutation_p.S38G|KCNE1_ENST00000399284.1_Missense_Mutation_p.S38G|KCNE1_ENST00000416357.2_Missense_Mutation_p.S38G	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	38			S -> G (in dbSNP:rs1805127). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16823764, ECO:0000269|PubMed:7828904}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TTGCCGTCACTGCTGCGGGGG	0.607													C|||	3375	0.673922	0.7247	0.6138	5008	,	,		18741	0.7083		0.6243	False		,,,				2504	0.6636				p.S38G		Atlas-SNP	.											.	KCNE1	23	.	0			c.A112G	GRCh37	CM062783	KCNE1	M	rs1805127	PASS	.	C	GLY/SER,GLY/SER,GLY/SER,GLY/SER	3132,1274	432.2+/-343.2	1101,930,172	78	65	69		112,112,112,112	0.2	0	21	dbSNP_89	69	5477,3123	476.5+/-369.4	1740,1997,563	yes	missense,missense,missense,missense	KCNE1	NM_000219.3,NM_001127668.1,NM_001127669.1,NM_001127670.1	56,56,56,56	2841,2927,735	CC,CT,TT		36.314,28.9151,33.8075	benign,benign,benign,benign	38/130,38/130,38/130,38/130	35821821	8609,4397	2203	4300	6503	SO:0001583	missense	3753	exon3			CGTCACTGCTGCG	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.112A>G	21.37:g.35821821T>C	ENSP00000337255:p.Ser38Gly	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	145	50	0.344828	NM_001127669	A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	CCDS13636.1	1459	0.668040293040293	370	0.7520325203252033	228	0.6298342541436464	394	0.6888111888111889	467	0.6160949868073878	C	10.57	1.386290	0.25031	0.710849	0.63686	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.16	0.18	0.15068	.	1.125680	0.06713	N	0.773538	T	0.00012	0.0000	N	0.11201	0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	9	0.22109	T	0.4	-0.9157	5.8765	0.18832	0.0:0.3705:0.144:0.4854	rs1805127;rs8179018;rs60471919;rs1805127	38	P15382	KCNE1_HUMAN	G	38	ENSP00000382228:S38G;ENSP00000337255:S38G;ENSP00000412498:S38G;ENSP00000382226:S38G;ENSP00000416258:S38G;ENSP00000382225:S38G	ENSP00000337255:S38G	S	-	1	0	KCNE1	34743691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.889000	0.04144	-0.024000	0.13941	-0.880000	0.02959	AGT	.	.	weak		0.607	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			C	35821821	T	C	35821821	3	2	23	1	0	0	0	0	1	0	0	0	8021	1580	55	3	281	3	KCNE1	21	35821821	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	876100	35821821	12308074	4667	21123										
CBR3	874	hgsc.bcm.edu	37	chr21	37507501	37507501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgctcagccatgtcgtcctGcagccgcgtggcgctggtga	14	15	1	1	rs8133052	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:37507501G>A	ENST00000290354.5	+	1	292	c.11G>A	c.(10-12)tGc>tAc	p.C4Y	CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	4			C -> Y (in dbSNP:rs8133052). {ECO:0000269|Ref.5}.		cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	ATGTCGTCCTGCAGCCGCGTG	0.721													G|||	1837	0.366813	0.2451	0.4856	5008	,	,		13383	0.4335		0.4523	False		,,,				2504	0.2904				p.C4Y		Atlas-SNP	.											CBR3,NS,carcinoma,0,1	CBR3	11	1	0			c.G11A						PASS	.	G	TYR/CYS	1102,2986		201,700,1143	7	6	6		11	2.5	1	21	dbSNP_116	6	3407,4617		811,1785,1416	no	missense	CBR3	NM_001236.3	194	1012,2485,2559	AA,AG,GG		42.4601,26.9569,37.2275	benign	4/278	37507501	4509,7603	2044	4012	6056	SO:0001583	missense	874	exon1			CGTCCTGCAGCCG	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.11G>A	21.37:g.37507501G>A	ENSP00000290354:p.Cys4Tyr	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	58	34	0.586207	NM_001236	Q6FHP2	Missense_Mutation	SNP	ENST00000290354.5	37	CCDS13642.1	882	0.40384615384615385	131	0.266260162601626	163	0.45027624309392267	247	0.4318181818181818	341	0.449868073878628	G	11.21	1.572033	0.28092	0.269569	0.424601	ENSG00000159231	ENST00000290354	T	0.69040	-0.37	5.32	2.52	0.30459	.	0.598172	0.18584	N	0.136957	T	0.00012	0.0000	N	0.04508	-0.205	0.26140	P	0.9802905	B	0.02656	0.0	B	0.06405	0.002	T	0.44787	-0.9305	9	0.28530	T	0.3	-9.6105	8.715	0.34405	0.2964:0.0:0.7036:0.0	rs8133052;rs17283714;rs57678090;rs8133052	4	O75828	CBR3_HUMAN	Y	4	ENSP00000290354:C4Y	ENSP00000290354:C4Y	C	+	2	0	CBR3	36429371	0.244000	0.23889	1.000000	0.80357	0.995000	0.86356	-0.042000	0.12063	0.375000	0.24679	0.655000	0.94253	TGC	G|0.602;A|0.398	0.398	strong		0.721	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			A	37507501	G	A	37507501	3	1	23	1	0	0	0	0	1	0	0	0	2709	1319	46	2	13	2	CBR3	21	37507501	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1685680	37507501	10622394	4668	21124										
MORC3	23515	hgsc.bcm.edu	37	chr21	37692589	37692589	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcgcagccaccccgcgggatAcgcctcagcgcggtgagcag	15	16	1	1	rs2236433	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:37692589A>T	ENST00000400485.1	+	1	103	c.27A>T	c.(25-27)atA>atT	p.I9I	AP000692.10_ENST00000608391.1_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	9					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCGCGGGATACGCCTCAGCG	0.736													A|||	1134	0.226438	0.0129	0.33	5008	,	,		9235	0.4871		0.1372	False		,,,				2504	0.2648				p.I9I		Atlas-SNP	.											.	MORC3	78	.	0			c.A27T						PASS	.	A		136,3520		5,126,1697	7	9	8		27	2.6	1	21	dbSNP_98	8	1112,6928		80,952,2988	no	coding-synonymous	MORC3	NM_015358.2		85,1078,4685	TT,TA,AA		13.8308,3.7199,10.6703		9/940	37692589	1248,10448	1828	4020	5848	SO:0001819	synonymous_variant	23515	exon1			CGGGATACGCCTC	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.27A>T	21.37:g.37692589A>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	83	39	0.46988	NM_015358	A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	CCDS42924.1																																																																																			A|0.762;T|0.238	0.238	strong		0.736	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		T	37692589	A	T	37692589	2	4	23	1	0	0	0	0	0	0	0	1	9703	381	14	5		5	MORC3	21	37692589	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	185088	37692589	10437306	4669	21125										
SIM2	6493	hgsc.bcm.edu	37	chr21	38117040	38117040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatgcagcaatacagctcGttccaaatggacaaactgga	9	11	0	0	rs2073416	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:38117040G>A	ENST00000290399.6	+	10	1792	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	SIM2_ENST00000430056.3_Silent_p.S393S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	393	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AATACAGCTCGTTCCAAATGG	0.617													G|||	1377	0.27496	0.3835	0.1787	5008	,	,		17396	0.2292		0.2237	False		,,,				2504	0.2965				p.S393S		Atlas-SNP	.											.	SIM2	55	.	0			c.G1179A						PASS	.	G	,	1605,2799		306,993,903	28	27	27		1179,1179	-8.8	0.5	21	dbSNP_96	27	1829,6771		192,1445,2663	no	coding-synonymous,coding-synonymous	SIM2	NM_005069.3,NM_009586.2	,	498,2438,3566	AA,AG,GG		21.2674,36.4441,26.4073	,	393/668,393/571	38117040	3434,9570	2202	4300	6502	SO:0001819	synonymous_variant	6493	exon10			CAGCTCGTTCCAA		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1179G>A	21.37:g.38117040G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	90	31	0.344444	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	CCDS13646.1	548	0.2509157509157509	178	0.3617886178861789	71	0.19613259668508287	123	0.21503496503496503	176	0.23218997361477572	G	9.051	0.991992	0.18966	0.364441	0.212674	ENSG00000159263	ENST00000431229	.	.	.	5.05	-8.81	0.00813	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999497838	.	.	.	.	.	.	T	0.36939	-0.9727	3	.	.	.	.	2.7046	0.05158	0.2843:0.3866:0.173:0.1561	rs2073416;rs52820127;rs2073416	.	.	.	I	331	.	.	V	+	1	0	SIM2	37038910	0.865000	0.29922	0.459000	0.27081	0.990000	0.78478	-0.257000	0.08745	-1.581000	0.01642	-0.320000	0.08662	GTT	G|0.736;A|0.264	0.264	strong		0.617	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38117040	G	A	38117040	2	1	23	1	0	0	0	0	0	0	0	1	14324	1132	40	1		1	SIM2	21	38117040	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	424451	38117040	10012855	4670	21126										
SIM2	6493	hgsc.bcm.edu	37	chr21	38117505	38117505	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggagccgaagcagccatggCggtgggtggcagatggagac	20	8	0	2	rs2073602	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:38117505C>T	ENST00000290399.6	+	10	2189				SIM2_ENST00000430056.3_Silent_p.G548G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2						cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCAGCCATGGCGGTGGGTGGC	0.602													C|||	1395	0.278554	0.3865	0.1787	5008	,	,		20123	0.2292		0.2276	False		,,,				2504	0.3067				p.G548G		Atlas-SNP	.											.	SIM2	55	.	0			c.C1644T						PASS	.	C	,	980,1668		181,618,525	46	55	52		,1644	-1.5	0	21	dbSNP_96	52	1030,3582		116,798,1392	no	intron,coding-synonymous	SIM2	NM_005069.3,NM_009586.2	,	297,1416,1917	TT,TC,CC		22.333,37.0091,27.686	,	,548/571	38117505	2010,5250	1324	2306	3630	SO:0001627	intron_variant	6493	exon10			CCATGGCGGTGGG		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1576+68C>T	21.37:g.38117505C>T		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	383	120	0.313316	NM_009586	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	CCDS13646.1																																																																																			C|0.739;T|0.261	0.261	strong		0.602	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		T	38117505	C	T	38117505	1	4	23	0	1	0	0	0	0	0	0	0	14324	755	27	1		1	SIM2	21	38117505	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	465	38117505	10012390	4671	21127										
BRWD1	54014	hgsc.bcm.edu	37	chr21	40574434	40574434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acctaccaactcaggaattaTttttgtctgagattttaacc	5	9	2	1	rs144295288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:40574434T>C	ENST00000333229.2	-	38	4729	c.4402A>G	c.(4402-4404)Ata>Gta	p.I1468V	BRWD1_ENST00000380800.3_Missense_Mutation_p.I1468V|BRWD1_ENST00000342449.3_Missense_Mutation_p.I1468V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1468					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCAGGAATTATTTTTGTCTGA	0.398													T|||	7	0.00139776	0.0	0.0	5008	,	,		18729	0.0		0.007	False		,,,				2504	0.0				p.I1468V	Melanoma(170;988 1986 4794 16843 39731)	Atlas-SNP	.											.	BRWD1	325	.	0			c.A4402G						PASS	.	T	VAL/ILE,VAL/ILE	6,4400	9.9+/-24.2	0,6,2197	72	67	69		4402,4402	3.4	0.7	21	dbSNP_134	69	46,8554	29.0+/-79.6	2,42,4256	yes	missense,missense	BRWD1	NM_018963.4,NM_033656.3	29,29	2,48,6453	CC,CT,TT		0.5349,0.1362,0.3998	benign,benign	1468/2321,1468/2270	40574434	52,12954	2203	4300	6503	SO:0001583	missense	54014	exon38			GAATTATTTTTGT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4402A>G	21.37:g.40574434T>C	ENSP00000330753:p.Ile1468Val	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	151	55	0.364238	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	6|6	0.0079155672823219|0.0079155672823219	T|T	0.007|0.007	-1.938401|-1.938401	0.00484|0.00484	0.001362|0.001362	0.005349|0.005349	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.52983|.	0.64;0.66;0.73|.	5.27|5.27	3.39|3.39	0.38822|0.38822	.|.	0.692467|.	0.13487|.	N|.	0.384267|.	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.0|.	T|T	0.33727|0.33727	-0.9857|-0.9857	10|5	0.24483|.	T|.	0.36|.	-2.138|-2.138	4.6929|4.6929	0.12790|0.12790	0.0:0.5271:0.151:0.3219|0.0:0.5271:0.151:0.3219	.|.	1468;1468;1468|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	V|S	1468;1468;1468;424|405	ENSP00000330753:I1468V;ENSP00000344333:I1468V;ENSP00000370178:I1468V|.	ENSP00000330753:I1468V|.	I|N	-|-	1|2	0|0	BRWD1|BRWD1	39496304|39496304	0.054000|0.054000	0.20591|0.20591	0.729000|0.729000	0.30791|0.30791	0.351000|0.351000	0.29236|0.29236	0.360000|0.360000	0.20250|0.20250	0.608000|0.608000	0.30000|0.30000	-0.177000|-0.177000	0.13119|0.13119	ATA|AAT	T|0.997;C|0.003	0.003	strong		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40574434	T	C	40574434	3	2	23	1	0	0	0	0	1	0	0	0	1525	1493	52	2	2819	2	BRWD1	21	40574434	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2456929	40574434	7555461	4672	21128										
SH3BGR	6450	hgsc.bcm.edu	37	chr21	40871810	40871810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaagagggcagtgaagatgTgggcaacctccctgaagccc	13	10	0	4	rs9974333	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:40871810T>C	ENST00000333634.4	+	4	641	c.563T>C	c.(562-564)gTg>gCg	p.V188A	SH3BGR_ENST00000380634.1_Missense_Mutation_p.V77A|SH3BGR_ENST00000380637.3_Missense_Mutation_p.V77A|SH3BGR_ENST00000380631.1_Missense_Mutation_p.V77A|SH3BGR_ENST00000458295.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	188	Glu-rich (acidic).		V -> A (in dbSNP:rs9974333). {ECO:0000269|PubMed:15489334}.		positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGTGAAGATGTGGGCAACCTC	0.468													C|||	2759	0.550919	0.4334	0.6124	5008	,	,		20218	0.6905		0.5288	False		,,,				2504	0.545				p.V188A		Atlas-SNP	.											SH3BGR,NS,carcinoma,-1,2	SH3BGR	29	2	0			c.T563C						scavenged	.	C	ALA/VAL,ALA/VAL	1983,2423		447,1089,667	124	114	117		230,563	-1.8	0	21	dbSNP_119	117	4599,4001		1239,2121,940	yes	missense,missense	SH3BGR	NM_001001713.1,NM_007341.2	64,64	1686,3210,1607	CC,CT,TT		46.5233,45.0068,49.3926	benign,benign	77/129,188/240	40871810	6582,6424	2203	4300	6503	SO:0001583	missense	6450	exon4			AAGATGTGGGCAA		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.563T>C	21.37:g.40871810T>C	ENSP00000332513:p.Val188Ala	Somatic	90	1	0.0111111		WXS	Illumina HiSeq	Phase_I	107	74	0.691589	NM_007341	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	1189	0.5444139194139194	194	0.3943089430894309	210	0.580110497237569	390	0.6818181818181818	395	0.521108179419525	.	2.530	-0.308722	0.05458	0.450068	0.534767	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000440288;ENST00000380631;ENST00000333634;ENST00000423596;ENST00000447939	T;T;T;T;T;T;T	0.56275	1.03;1.03;1.06;1.03;1.98;0.8;0.47	4.96	-1.76	0.08006	.	1.400190	0.03918	N	0.282949	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43940	-0.9360	9	0.02654	T	1	.	0.4012	0.00426	0.2399:0.2441:0.2734:0.2426	rs9974333;rs11575940;rs52803258;rs61401446;rs9974333	188	P55822	SH3BG_HUMAN	A	77;77;77;77;188;30;21	ENSP00000370011:V77A;ENSP00000370008:V77A;ENSP00000401572:V77A;ENSP00000370005:V77A;ENSP00000332513:V188A;ENSP00000413981:V30A;ENSP00000403115:V21A	ENSP00000332513:V188A	V	+	2	0	SH3BGR	39793680	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-1.098000	0.03346	-0.467000	0.06932	-0.231000	0.12243	GTG	T|0.476;C|0.524	0.524	strong		0.468	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		C	40871810	T	C	40871810	3	2	23	1	0	0	0	0	1	0	0	0	14240	1696	59	2	577	2	SH3BGR	21	40871810	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	297376	40871810	7258085	4673	21129										
SH3BGR	6450	hgsc.bcm.edu	37	chr21	40883671	40883672	+	In_Frame_Ins	INS	-	-	AGA													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaggaagaaactgcagaaggINSagaagagcctggagaagacg					rs111921581|rs397694871|rs3831201|rs77389080	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:40883671_40883672insAGA	ENST00000333634.4	+	6	767_768	c.689_690insAGA	c.(688-693)ggagaa>ggAGAagaa	p.232_233insE	SH3BGR_ENST00000380634.1_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000380637.3_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000380631.1_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000458295.1_In_Frame_Ins_p.90_91insE	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	232	Glu-rich (acidic).			E -> EE (in Ref. 4; BM474020). {ECO:0000305}.	positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ACTGCAGAAGGAGAAGAGCCTG	0.46																																					p.G230delinsGE		Pindel,Atlas-Indel	.											SH3BGR,colon,carcinoma,0,1	SH3BGR	29	1	0			c.689_690insAGA						PASS	.		,	2200,2064		562,1076,494					,	-5.7	0		dbSNP_131	112	4701,3553		1343,2015,769	no	coding,coding	SH3BGR	NM_007341.2,NM_001001713.1	,	1905,3091,1263	A1A1,A1R,RR		43.0458,48.4053,44.8714	,	,		6901,5617				SO:0001652	inframe_insertion	6450	exon6			.		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.693_695dupAGA	21.37:g.40883675_40883677dupAGA	ENSP00000332513:p.Glu232_Glu232dup	Somatic	86	.	.		WXS	Illumina HiSeq	Phase_I	98	41	0.418	NM_007341	A6ND59|D3DSI2|Q9BRB8	In_Frame_Ins	INS	ENST00000333634.4	37	CCDS13666.1																																																																																			.	.	strong		0.46	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		AGA	40883672	-	AGA	40883671	7	5	23	1	0	1	1	0	0	0	0	0	14240	1174	41	0	711	0	SH3BGR	21	40883671	In_Frame_Ins	INS	-	TCGA-GR-7353-01A-11D-2210-10	11861	40883671	7246224	4674	21130										
TMPRSS2	7113	hgsc.bcm.edu	37	chr21	42845374	42845374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccccgggagcgcgctctcGccgcccacaatcctgctctg	11	20	2	0	rs2298659	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:42845374G>A	ENST00000332149.5	-	9	911	c.777C>T	c.(775-777)ggC>ggT	p.G259G	TMPRSS2_ENST00000398585.3_Silent_p.G296G|TMPRSS2_ENST00000458356.1_Silent_p.G259G	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	259	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCGCGCTCTCGCCGCCCACAA	0.662			T	"ERG, ETV1, ETV4, ETV5"	prostate								G|||	1049	0.209465	0.1747	0.2176	5008	,	,		14656	0.249		0.2296	False		,,,				2504	0.1892				p.G296G		Atlas-SNP	.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	TMPRSS2_ENST00000454499,NS,carcinoma,0,3	TMPRSS2	148	3	0			c.C888T						PASS	.	G	,	810,3552		75,660,1446	22	21	21		888,777	-10.4	0	21	dbSNP_100	21	1861,6697		212,1437,2630	no	coding-synonymous,coding-synonymous	TMPRSS2	NM_001135099.1,NM_005656.3	,	287,2097,4076	AA,AG,GG		21.7457,18.5695,20.6734	,	296/530,259/493	42845374	2671,10249	2181	4279	6460	SO:0001819	synonymous_variant	7113	exon9			GCTCTCGCCGCCC	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.777C>T	21.37:g.42845374G>A		Somatic	178	1	0.00561798		WXS	Illumina HiSeq	Phase_I	201	131	0.651741	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	CCDS33564.1																																																																																			G|0.780;A|0.220	0.220	strong		0.662	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			A	42845374	G	A	42845374	2	1	23	1	0	0	0	0	0	0	0	1	16244	1074	38	1		1	TMPRSS2	21	42845374	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1961703	42845374	5284521	4675	21131										
TMPRSS2	7113	hgsc.bcm.edu	37	chr21	42852497	42852497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcctctgagatgagtacaCctgaaggatgaagtttggtc	11	8	1	4	rs12329760	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:42852497C>T	ENST00000332149.5	-	6	612	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.V197M|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V160M	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	160	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> M (in dbSNP:rs12329760). {ECO:0000269|PubMed:11414763, ECO:0000269|PubMed:17918732, ECO:0000269|PubMed:9325052}.		positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V160M(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GATGAGTACACCTGAAGGATG	0.507			T	"ERG, ETV1, ETV4, ETV5"	prostate								C|||	1309	0.261382	0.2867	0.1542	5008	,	,		20708	0.3621		0.2356	False		,,,				2504	0.226				p.V197M		Atlas-SNP	.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	TMPRSS2_ENST00000332149,NS,carcinoma,0,1	TMPRSS2	148	1	1	Substitution - Missense(1)	stomach(1)	c.G589A						PASS	.	C	MET/VAL,MET/VAL	1279,3127	433.5+/-343.6	183,913,1107	62	53	56		589,478	4.2	1	21	dbSNP_120	56	1860,6740	330.6+/-319.3	222,1416,2662	yes	missense,missense	TMPRSS2	NM_001135099.1,NM_005656.3	21,21	405,2329,3769	TT,TC,CC		21.6279,29.0286,24.135	probably-damaging,probably-damaging	197/530,160/493	42852497	3139,9867	2203	4300	6503	SO:0001583	missense	7113	exon6			AGTACACCTGAAG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.478G>A	21.37:g.42852497C>T	ENSP00000330330:p.Val160Met	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	202	133	0.658416	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	634	0.2902930402930403	145	0.29471544715447157	69	0.19060773480662985	230	0.4020979020979021	190	0.25065963060686014	C	18.40	3.615593	0.66672	0.290286	0.216279	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.12	4.23	0.50019	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.307523	0.26812	N	0.022371	T	0.00012	0.0000	M	0.85462	2.755	0.28298	P	0.9232503	D;D	0.76494	0.999;0.997	D;D	0.65773	0.938;0.937	T	0.10847	-1.0612	9	0.66056	D	0.02	.	9.9163	0.41436	0.0:0.9025:0.0:0.0975	rs12329760;rs60283747;rs12329760	197;160	F8WES1;O15393	.;TMPS2_HUMAN	M	160;197;160;160;120	ENSP00000330330:V160M;ENSP00000381588:V197M;ENSP00000391216:V160M;ENSP00000389006:V160M;ENSP00000397846:V120M	ENSP00000330330:V160M	V	-	1	0	TMPRSS2	41774367	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	1.578000	0.36525	2.392000	0.81423	0.561000	0.74099	GTG	C|0.744;T|0.256	0.256	strong		0.507	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			T	42852497	C	T	42852497	3	4	23	1	0	0	0	0	1	0	0	0	16244	507	18	2	1036	2	TMPRSS2	21	42852497	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7123	42852497	5277398	4676	21132										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43187167	43187167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtcgaaggtgcgcagcagcGccagggcccatggggtcccg	17	14	0	0	rs6586239	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43187167G>C	ENST00000352483.2	-	1	99	c.35C>G	c.(34-36)gCg>gGg	p.A12G	RIPK4_ENST00000544709.1_5'Flank|RIPK4_ENST00000332512.3_Missense_Mutation_p.A12G|RIPK4_ENST00000542057.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	12			A -> G (in dbSNP:rs6586239).		morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCGCAGCAGCGCCAGGGCCCA	0.726													C|||	614	0.122604	0.2073	0.1095	5008	,	,		9853	0.0		0.1561	False		,,,				2504	0.1094				p.A12G		Atlas-SNP	.											RIPK4_ENST00000352483,colon,carcinoma,0,2	RIPK4	151	2	0			c.C35G						scavenged	.	C	GLY/ALA	784,3600		74,636,1482	18	16	17		35	3.7	1	21	dbSNP_116	17	1356,7224		111,1134,3045	yes	missense	RIPK4	NM_020639.2	60	185,1770,4527	CC,CG,GG		15.8042,17.8832,16.5073	benign	12/785	43187167	2140,10824	2192	4290	6482	SO:0001583	missense	54101	exon1			AGCAGCGCCAGGG	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.35C>G	21.37:g.43187167G>C	ENSP00000330161:p.Ala12Gly	Somatic	55	1	0.0181818		WXS	Illumina HiSeq	Phase_I	42	28	0.666667	NM_020639	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		269	0.12316849816849818	103	0.20934959349593496	43	0.11878453038674033	0	0.0	123	0.16226912928759896	C	9.236	1.037100	0.19669	0.178832	0.158042	ENSG00000183421	ENST00000332512;ENST00000352483	T;T	0.15487	2.42;2.42	3.68	3.68	0.42216	.	0.109881	0.38217	N	0.001775	T	0.00012	0.0000	N	0.00088	-2.19	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	9	0.02654	T	1	-21.985	12.1646	0.54123	0.0:0.8259:0.1741:0.0	rs6586239;rs6586239	12	P57078-2	.	G	12	ENSP00000332454:A12G;ENSP00000330161:A12G	ENSP00000332454:A12G	A	-	2	0	RIPK4	42060236	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.871000	0.63042	0.548000	0.28955	-0.365000	0.07479	GCG	G|0.846;C|0.154	0.154	strong		0.726	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		C	43187167	G	C	43187167	3	2	23	1	0	0	0	0	1	0	0	0	13383	1087	38	4	2351	4	RIPK4	21	43187167	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	334670	43187167	4942728	4677	21133										
C2CD2	25966	hgsc.bcm.edu	37	chr21	43327793	43327793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccgtgaccgagcccagcacCgagctgccgcaggcagaccc	13	18	0	2	rs3746904	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43327793C>T	ENST00000380486.3	-	9	1360	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	C2CD2_ENST00000329623.7_Silent_p.S218S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	373						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCCCAGCACCGAGCTGCCGC	0.642													C|||	1832	0.365815	0.3169	0.4683	5008	,	,		15888	0.3859		0.3509	False		,,,				2504	0.3538				p.S373S		Atlas-SNP	.											C2CD2,NS,carcinoma,0,1	C2CD2	47	1	0			c.G1119A						PASS	.	C	,	1580,2826		320,940,943	22	25	24		1119,654	-7.6	0	21	dbSNP_107	24	3014,5586		524,1966,1810	no	coding-synonymous,coding-synonymous	C2CD2	NM_015500.1,NM_199050.2	,	844,2906,2753	TT,TC,CC		35.0465,35.8602,35.3222	,	373/697,218/542	43327793	4594,8412	2203	4300	6503	SO:0001819	synonymous_variant	25966	exon9			CAGCACCGAGCTG	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1119G>A	21.37:g.43327793C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	75	30	0.4	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	CCDS42933.1																																																																																			C|0.655;T|0.345	0.345	strong		0.642	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43327793	C	T	43327793	2	4	23	1	0	0	0	0	0	0	0	1	2152	639	23	1		1	C2CD2	21	43327793	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	140626	43327793	4802102	4678	21134										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43504228	43504228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcagttcacgtcaagaccTggggcctgccccgcagaggg	16	13	2	2	rs7278485	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43504228T>C	ENST00000408910.2	+	3	354	c.354T>C	c.(352-354)ccT>ccC	p.P118P	UMODL1_ENST00000408989.2_Silent_p.P118P|UMODL1_ENST00000400427.1_Silent_p.P46P|UMODL1_ENST00000400424.2_Silent_p.P46P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	118	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CGTCAAGACCTGGGGCCTGCC	0.572													C|||	3342	0.667332	0.7935	0.5821	5008	,	,		19053	0.5496		0.6223	False		,,,				2504	0.7249				p.P118P	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											UMODL1_ENST00000408989,NS,carcinoma,+1,4	UMODL1	186	4	0			c.T354C						PASS	.	C	,,,	2972,888		1143,686,101	123	137	133		354,138,138,354	-7.7	0	21	dbSNP_116	133	5159,3081		1600,1959,561	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	2743,2645,662	CC,CT,TT		37.3908,23.0052,32.8017	,,,	118/1319,46/1375,46/1247,118/1447	43504228	8131,3969	1930	4120	6050	SO:0001819	synonymous_variant	89766	exon3			AAGACCTGGGGCC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.354T>C	21.37:g.43504228T>C		Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	173	170	0.982659	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			T|0.347;C|0.653	0.653	strong		0.572	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43504228	T	C	43504228	2	2	23	1	0	0	0	0	0	0	0	1	16977	1567	55	3		3	UMODL1	21	43504228	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	176435	43504228	4625667	4679	21135										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43510437	43510437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtgtttctatgaggagctcAatgcctgctctggaagggaa	13	7	3	1	rs17114359	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43510437A>G	ENST00000408910.2	+	6	820	c.820A>G	c.(820-822)Aat>Gat	p.N274D	UMODL1_ENST00000408989.2_Missense_Mutation_p.N274D|UMODL1_ENST00000400427.1_Missense_Mutation_p.N202D|UMODL1_ENST00000400424.2_Missense_Mutation_p.N202D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	274	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		N -> D (in dbSNP:rs17114359). {ECO:0000269|PubMed:16026467}.|N -> H (in dbSNP:rs17114359). {ECO:0000269|PubMed:16026467}.		adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAGGAGCTCAATGCCTGCTC	0.557													A|||	396	0.0790735	0.2148	0.0331	5008	,	,		20658	0.0		0.0467	False		,,,				2504	0.0429				p.N274D	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											UMODL1_ENST00000408989,colon,carcinoma,0,2	UMODL1	186	2	0			c.A820G						scavenged	.						133	135	134					21																	43510437		2139	4236	6375	SO:0001583	missense	89766	exon6			GAGCTCAATGCCT		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.820A>G	21.37:g.43510437A>G	ENSP00000386147:p.Asn274Asp	Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	225	90	0.4	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714101	0.30413	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.89	1.51	0.23008	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.921215	0.08894	N	0.878228	D	0.90249	0.6951	N	0.24115	0.695	0.80722	P	0.0	D;P	0.58620	0.983;0.833	P;B	0.56042	0.79;0.42	D	0.85632	0.1271	9	0.59425	D	0.04	-5.2933	8.6932	0.34280	0.4946:0.5054:0.0:0.0	rs17114359;rs17114359	274;274	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	D	202;202;274;274;120;120	ENSP00000383279:N202D;ENSP00000383276:N202D;ENSP00000386126:N274D;ENSP00000386147:N274D	ENSP00000369829:N120D	N	+	1	0	UMODL1	42383506	0.925000	0.31364	0.004000	0.12327	0.044000	0.14063	1.864000	0.39469	0.188000	0.20168	0.260000	0.18958	AAT	A|0.735;C|0.140;G|0.124	0.124	strong		0.557	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43510437	A	G	43510437	3	3	23	1	0	0	0	0	1	0	0	0	16977	130	5	2	842	2	UMODL1	21	43510437	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	6209	43510437	4619458	4680	21136										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43531264	43531264	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccccgggtctggggatggaCcaggggagccccagccaggt	18	13	1	0	rs111772429	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43531264C>G	ENST00000408910.2	+	11	1899				UMODL1_ENST00000408989.2_Missense_Mutation_p.D644E|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.D572E|UMODL1_ENST00000400424.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGGGATGGACCAGGGGAGCC	0.667													C|||	88	0.0175719	0.0015	0.013	5008	,	,		13954	0.0		0.0457	False		,,,				2504	0.0317				p.D644E	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.C1932G						PASS	.	C	,GLU/ASP,,GLU/ASP	20,3838		0,20,1909	11	16	15		,1716,,1932	0.3	0	21	dbSNP_132	15	346,7926		13,320,3803	yes	intron,missense,intron,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,45,,45	13,340,5712	GG,GC,CC		4.1828,0.5184,3.0173	,benign,,benign	,572/1375,,644/1447	43531264	366,11764	1929	4136	6065	SO:0001627	intron_variant	89766	exon11			GATGGACCAGGGG		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+33C>G	21.37:g.43531264C>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	127	47	0.370079	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	5.522	0.281200	0.10458	0.005184	0.041828	ENSG00000177398	ENST00000400427;ENST00000408989	T;T	0.70986	-0.53;-0.52	2.29	0.29	0.15728	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.23419	0.046	T	0.12041	-1.0563	8	0.06891	T	0.86	-4.5992	6.6992	0.23215	0.4928:0.5072:0.0:0.0	.	644	Q5DID0-2	.	E	572;644	ENSP00000383279:D572E;ENSP00000386126:D644E	ENSP00000383279:D572E	D	+	3	2	UMODL1	42404333	0.012000	0.17670	0.002000	0.10522	0.020000	0.10135	0.521000	0.22893	0.056000	0.16144	0.305000	0.20034	GAC	A|0.003;C|0.996;G|0.000	0.000	strong		0.667	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43531264	C	G	43531264	1	3	23	0	1	0	0	0	0	0	0	0	16977	506	18	4		4	UMODL1	21	43531264	Intron	SNP	C	TCGA-GR-7353-01A-11D-2210-10	20827	43531264	4598631	4681	21137										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43547873	43547873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggatcttttcctttatcaacGactccatcgtctacctgcac	5	14	3	0	rs220159	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43547873G>A	ENST00000408910.2	+	20	3622	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	UMODL1_ENST00000408989.2_Missense_Mutation_p.D1336N|UMODL1_ENST00000400427.1_Missense_Mutation_p.D1264N|UMODL1_ENST00000400424.2_Missense_Mutation_p.D1136N|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1208	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		D -> N (in dbSNP:rs220159). {ECO:0000269|PubMed:16026467}.		adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTATCAACGACTCCATCGT	0.488													A|||	1792	0.357827	0.3253	0.4236	5008	,	,		20774	0.369		0.3499	False		,,,				2504	0.3517				p.D1336N	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											UMODL1_ENST00000408989,colon,carcinoma,0,2	UMODL1	186	2	0			c.G4006A						PASS	.	A	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1242,2800		217,808,996	127	126	127		3622,3790,3406,4006	2.4	0.9	21	dbSNP_79	127	2939,5417		524,1891,1763	yes	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	23,23,23,23	741,2699,2759	AA,AG,GG		35.1723,30.7274,33.7232	benign,benign,benign,benign	1208/1319,1264/1375,1136/1247,1336/1447	43547873	4181,8217	2021	4178	6199	SO:0001583	missense	89766	exon19			ATCAACGACTCCA		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3622G>A	21.37:g.43547873G>A	ENSP00000386147:p.Asp1208Asn	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	269	117	0.434944	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	800	0.3663003663003663	161	0.32723577235772355	156	0.430939226519337	219	0.38286713286713286	264	0.3482849604221636	A	0.009	-1.855586	0.00558	0.307274	0.351723	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.56	2.42	0.29668	Zona pellucida sperm-binding protein (3);	0.000000	0.48286	N	0.000200	T	0.00012	0.0000	N	0.00210	-1.845	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.36016	-0.9765	8	.	.	.	-26.8106	6.7343	0.23401	0.7075:0.0:0.2925:0.0	rs220159;rs512994;rs17177620;rs52807694;rs59318415;rs220159	1336;1208	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	1264;1136;1336;1208;93	ENSP00000383279:D1264N;ENSP00000383276:D1136N;ENSP00000386126:D1336N;ENSP00000386147:D1208N	.	D	+	1	0	UMODL1	42420942	0.993000	0.37304	0.924000	0.36721	0.050000	0.14768	0.913000	0.28611	0.263000	0.21812	-0.361000	0.07541	GAC	G|0.638;N|0.000	.	strong		0.488	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43547873	G	A	43547873	3	1	23	1	0	0	0	0	1	0	0	0	16977	1058	37	1	4080	1	UMODL1	21	43547873	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	16609	43547873	4582022	4682	21138										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43557559	43557559	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctccccgaggtgagcctccTcatgcagaagcaggcctggg	13	15	1	2	rs3819141	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43557559T>A	ENST00000408910.2	+	22	3786	c.3786T>A	c.(3784-3786)ccT>ccA	p.P1262P	UMODL1_ENST00000408989.2_Silent_p.P1390P|UMODL1_ENST00000400427.1_Silent_p.P1318P|UMODL1_ENST00000400424.2_Silent_p.P1190P|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1262					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGAGCCTCCTCATGCAGAAG	0.612													A|||	1680	0.335463	0.1785	0.3703	5008	,	,		16653	0.4097		0.3718	False		,,,				2504	0.409				p.P1390P	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.T4170A						PASS	.	A	,,,	875,3285		99,677,1304	145	155	152		3786,3954,3570,4170	-4.8	0	21	dbSNP_107	152	3189,5253		592,2005,1624	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	691,2682,2928	AA,AT,TT		37.7754,21.0337,32.2488	,,,	1262/1319,1318/1375,1190/1247,1390/1447	43557559	4064,8538	2080	4221	6301	SO:0001819	synonymous_variant	89766	exon21			GCCTCCTCATGCA		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3786T>A	21.37:g.43557559T>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	235	62	0.26383	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			T|0.652;A|0.348	0.348	strong		0.612	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43557559	T	A	43557559	2	1	23	1	0	0	0	0	0	0	0	1	16977	1538	54	5		5	UMODL1	21	43557559	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	9686	43557559	4572336	4683	21139										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43557698	43557698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acaactttaaaatccagtccAacaacttcagctaccaggtg	5	12	1	0	rs3819142	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43557698A>C	ENST00000408910.2	+	22	3925	c.3925A>C	c.(3925-3927)Aac>Cac	p.N1309H	UMODL1_ENST00000408989.2_Missense_Mutation_p.N1437H|UMODL1_ENST00000400427.1_Missense_Mutation_p.N1365H|UMODL1_ENST00000400424.2_Missense_Mutation_p.N1237H|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1309			N -> H (in dbSNP:rs3819142). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15194491, ECO:0000269|PubMed:16026467}.		adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATCCAGTCCAACAACTTCAG	0.552													A|||	1105	0.220647	0.1452	0.245	5008	,	,		15859	0.256		0.1769	False		,,,				2504	0.3139				p.N1437H	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.A4309C						PASS	.	A	HIS/ASN,HIS/ASN,HIS/ASN,HIS/ASN	640,3448		53,534,1457	106	108	107		3925,4093,3709,4309	1.2	0	21	dbSNP_107	107	1507,6873		133,1241,2816	yes	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	68,68,68,68	186,1775,4273	CC,CA,AA		17.9833,15.6556,17.2201	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1309/1319,1365/1375,1237/1247,1437/1447	43557698	2147,10321	2044	4190	6234	SO:0001583	missense	89766	exon21			CAGTCCAACAACT		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3925A>C	21.37:g.43557698A>C	ENSP00000386147:p.Asn1309His	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	162	59	0.364198	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	402	0.18406593406593408	61	0.12398373983739837	75	0.20718232044198895	134	0.23426573426573427	132	0.1741424802110818	A	9.441	1.088116	0.20390	0.156556	0.179833	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.72505	-0.66;-0.64;-0.66;-0.65	3.03	1.19	0.21007	.	0.518994	0.15619	N	0.253004	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P	0.43287	0.681;0.802	B;B	0.31245	0.126;0.116	T	0.07046	-1.0793	8	.	.	.	-15.1051	7.5416	0.27742	0.2168:0.0:0.7832:0.0	rs3819142;rs52825619;rs57468422;rs3819142	1437;1309	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1365;1237;1437;1309	ENSP00000383279:N1365H;ENSP00000383276:N1237H;ENSP00000386126:N1437H;ENSP00000386147:N1309H	.	N	+	1	0	UMODL1	42430767	0.215000	0.23574	0.011000	0.14972	0.004000	0.04260	2.218000	0.42889	0.336000	0.23639	-1.098000	0.02139	AAC	A|0.810;C|0.190	0.190	strong		0.552	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43557698	A	C	43557698	3	2	23	1	0	0	0	0	1	0	0	0	16977	130	5	5	4391	5	UMODL1	21	43557698	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	139	43557698	4572197	4684	21140										
RSPH1	89765	hgsc.bcm.edu	37	chr21	43913112	43913112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgaattcgtagctcccttcGtaggtgtccccgttgggtag	12	12	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:43913112G>A	ENST00000291536.3	-	2	299	c.132C>T	c.(130-132)taC>taT	p.Y44Y	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	44					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						AGCTCCCTTCGTAGGTGTCCC	0.498																																					p.Y44Y	Esophageal Squamous(23;63 706 6286 10288 12913)	Atlas-SNP	.											RSPH1,NS,carcinoma,0,1	RSPH1	36	1	0			c.C132T						PASS	.						262	232	242					21																	43913112		2203	4300	6503	SO:0001819	synonymous_variant	89765	exon2			CCCTTCGTAGGTG	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.132C>T	21.37:g.43913112G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	251	62	0.247012	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																			.	.	none		0.498	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			A	43913112	G	A	43913112	2	1	23	1	0	0	0	0	0	0	0	1	13702	1140	40	1		1	RSPH1	21	43913112	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	355414	43913112	4216783	4685	21141										
PDE9A	5152	hgsc.bcm.edu	37	chr21	44180443	44180443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgcctcccgcagttctgCgtccacgacaactacagaaa	7	17	1	1	rs13047953	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:44180443C>T	ENST00000291539.6	+	12	963	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PDE9A_ENST00000539837.1_Silent_p.C173C|PDE9A_ENST00000398225.3_Silent_p.C260C|PDE9A_ENST00000398227.3_Silent_p.C141C|PDE9A_ENST00000398229.3_Silent_p.C167C|PDE9A_ENST00000328862.6_Silent_p.C275C|PDE9A_ENST00000398224.3_Silent_p.C174C|PDE9A_ENST00000398236.3_Silent_p.C215C|PDE9A_ENST00000335440.6_Silent_p.C199C|PDE9A_ENST00000349112.3_Silent_p.C173C|PDE9A_ENST00000335512.4_Silent_p.C241C|PDE9A_ENST00000380328.2_Silent_p.C248C|PDE9A_ENST00000398234.3_Silent_p.C200C|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Silent_p.C234C	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	301	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.C301C(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CGCAGTTCTGCGTCCACGACA	0.607													C|||	1146	0.228834	0.0219	0.219	5008	,	,		16615	0.4127		0.4374	False		,,,				2504	0.1115				p.C301C		Atlas-SNP	.											PDE9A,NS,carcinoma,0,1	PDE9A	69	1	1	Substitution - coding silent(1)	stomach(1)	c.C903T						PASS	.	C	,,,,,,,,,,,,,,,,,,,	369,4037	186.7+/-213.5	17,335,1851	69	56	60		723,522,519,744,600,282,282,645,423,252,501,597,282,252,702,780,825,282,282,903	-1.1	1	21	dbSNP_121	60	3740,4860	531.7+/-382.0	823,2094,1383	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,,,,,,	840,2429,3234	TT,TC,CC		43.4884,8.3749,31.5931	,,,,,,,,,,,,,,,,,,,	241/534,174/467,173/466,248/541,200/493,94/387,94/387,215/508,141/434,84/377,167/460,199/492,94/387,84/377,234/527,260/553,275/568,94/387,94/387,301/594	44180443	4109,8897	2203	4300	6503	SO:0001819	synonymous_variant	5152	exon12			GTTCTGCGTCCAC	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.903C>T	21.37:g.44180443C>T		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	27	16	0.592593	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	CCDS13690.1																																																																																			C|0.675;T|0.325	0.325	strong		0.607	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			T	44180443	C	T	44180443	2	4	23	1	0	0	0	0	0	0	0	1	11655	776	27	1		1	PDE9A	21	44180443	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	267331	44180443	3949452	4686	21142										
PDE9A	5152	hgsc.bcm.edu	37	chr21	44189166	44189166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagaagtcagaaggccttccTgtggcaccgttcatggaccg	13	11	2	2	rs1045382	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:44189166T>C	ENST00000291539.6	+	17	1551	c.1491T>C	c.(1489-1491)ccT>ccC	p.P497P	PDE9A_ENST00000539837.1_Silent_p.P369P|PDE9A_ENST00000398225.3_Silent_p.P456P|PDE9A_ENST00000398227.3_Silent_p.P337P|PDE9A_ENST00000398229.3_Silent_p.P363P|PDE9A_ENST00000328862.6_Silent_p.P471P|PDE9A_ENST00000398224.3_Silent_p.P370P|PDE9A_ENST00000398236.3_Silent_p.P411P|PDE9A_ENST00000335440.6_Silent_p.P395P|PDE9A_ENST00000349112.3_Silent_p.P369P|PDE9A_ENST00000335512.4_Silent_p.P437P|PDE9A_ENST00000380328.2_Silent_p.P444P|PDE9A_ENST00000398234.3_Silent_p.P396P|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Silent_p.P430P	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	497	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AAGGCCTTCCTGTGGCACCGT	0.512													C|||	2569	0.512979	0.6853	0.4352	5008	,	,		24371	0.4236		0.3718	False		,,,				2504	0.5726				p.P497P		Atlas-SNP	.											.	PDE9A	69	.	0			c.T1491C						PASS	.	C	,,,,,,,,,,,,,,,,,,,	2761,1645	502.9+/-365.4	856,1049,298	171	147	155		1311,1110,1107,1332,1188,870,870,1233,1011,840,1089,1185,870,840,1290,1368,1413,870,870,1491	-9.5	0.1	21	dbSNP_86	155	3112,5488	658.8+/-401.6	587,1938,1775	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,,,,,,	1443,2987,2073	CC,CT,TT		36.186,37.3355,45.1561	,,,,,,,,,,,,,,,,,,,	437/534,370/467,369/466,444/541,396/493,290/387,290/387,411/508,337/434,280/377,363/460,395/492,290/387,280/377,430/527,456/553,471/568,290/387,290/387,497/594	44189166	5873,7133	2203	4300	6503	SO:0001819	synonymous_variant	5152	exon17			CCTTCCTGTGGCA	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1491T>C	21.37:g.44189166T>C		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	267	76	0.284644	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	CCDS13690.1																																																																																			T|0.555;C|0.445	0.445	strong		0.512	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			C	44189166	T	C	44189166	2	2	23	1	0	0	0	0	0	0	0	1	11655	1567	55	3		3	PDE9A	21	44189166	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	8723	44189166	3940729	4687	21143										
CBS	875	hgsc.bcm.edu	37	chr21	44483101	44483101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggatgaagtcgtagccgaTcccttccacctcgtaggttg	13	11	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:44483101T>C	ENST00000398165.3	-	10	1175	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	CBS_ENST00000352178.5_Missense_Mutation_p.I306V|CBS_ENST00000544202.1_Missense_Mutation_p.I218V|CBS_ENST00000398158.1_Missense_Mutation_p.I306V|CBS_ENST00000359624.3_Missense_Mutation_p.I306V|CBS_ENST00000398168.1_Missense_Mutation_p.I306V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	306					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TCGTAGCCGATCCCTTCCACC	0.632																																					p.I306V		Atlas-SNP	.											.	CBS	85	.	0			c.A916G						PASS	.						145	121	129					21																	44483101		2203	4300	6503	SO:0001583	missense	875	exon10			AGCCGATCCCTTC	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.916A>G	21.37:g.44483101T>C	ENSP00000381231:p.Ile306Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	120	27	0.225	NM_000071	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494781	0.64186	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23	4.67	4.67	0.58626	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.82056	2.57	0.49798	D	0.99982	P;P	0.46784	0.573;0.884	P;P	0.57720	0.775;0.826	D	0.97377	0.9980	10	0.38643	T	0.18	-21.5015	12.3672	0.55234	0.0:0.0:0.0:1.0	.	306;263	P35520;B7Z2D6	CBS_HUMAN;.	V	306;306;306;306;306;263;218	ENSP00000381225:I306V;ENSP00000381231:I306V;ENSP00000352643:I306V;ENSP00000344460:I306V;ENSP00000381234:I306V;ENSP00000439332:I218V	ENSP00000344460:I306V	I	-	1	0	CBS	43356170	1.000000	0.71417	0.122000	0.21767	0.415000	0.31203	6.807000	0.75201	1.740000	0.51718	0.482000	0.46254	ATC	.	.	none		0.632	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		C	44483101	T	C	44483101	3	2	23	1	0	0	0	0	1	0	0	0	2711	1435	50	2	771	2	CBS	21	44483101	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	293935	44483101	3646794	4688	21144										
SIK1	150094	hgsc.bcm.edu	37	chr21	44840138	44840138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accgtcctctgccggtccacGcccagggtctgcatgatacc	10	17	2	1	rs17004546	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:44840138G>A	ENST00000270162.6	-	8	1080	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	316	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCCGGTCCACGCCCAGGGTCT	0.677													G|||	210	0.0419329	0.003	0.0101	5008	,	,		16158	0.0506		0.0427	False		,,,				2504	0.1074				p.G316G		Atlas-SNP	.											.	SIK1	65	.	0			c.C948T						PASS	.	G		51,4355	50.9+/-86.3	1,49,2153	43	40	41		948	1	0.1	21	dbSNP_123	41	391,8209	125.8+/-184.4	13,365,3922	no	coding-synonymous	SIK1	NM_173354.3		14,414,6075	AA,AG,GG		4.5465,1.1575,3.3984		316/784	44840138	442,12564	2203	4300	6503	SO:0001819	synonymous_variant	150094	exon8			GTCCACGCCCAGG	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.948C>T	21.37:g.44840138G>A		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	308	176	0.571429	NM_173354	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	CCDS33575.1																																																																																			G|0.970;A|0.030	0.030	strong		0.677	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		A	44840138	G	A	44840138	2	1	23	1	0	0	0	0	0	0	0	1	14317	1074	38	1		1	SIK1	21	44840138	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	357037	44840138	3289757	4689	21145										
SIK1	150094	hgsc.bcm.edu	37	chr21	44846016	44846016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggcttctgctggccctgacCctggcccgcggggtccgcgc	16	17	1	1	rs3746951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:44846016C>T	ENST00000270162.6	-	2	175	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	15			G -> S (in dbSNP:rs3746951). {ECO:0000269|PubMed:17344846}.		cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TGGCCCTGACCCTGGCCCGCG	0.692													C|||	834	0.166534	0.0129	0.2925	5008	,	,		11980	0.2153		0.2684	False		,,,				2504	0.1299				p.G15S		Atlas-SNP	.											.	SIK1	65	.	0			c.G43A						PASS	.	C	SER/GLY	212,4172		8,196,1988	15	17	16		43	2.4	0.5	21	dbSNP_107	16	2211,6371		269,1673,2349	yes	missense	SIK1	NM_173354.3	56	277,1869,4337	TT,TC,CC		25.7632,4.8358,18.6873	benign	15/784	44846016	2423,10543	2192	4291	6483	SO:0001583	missense	150094	exon2			CCTGACCCTGGCC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.43G>A	21.37:g.44846016C>T	ENSP00000270162:p.Gly15Ser	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	64	19	0.296875	NM_173354	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	435	0.19917582417582416	11	0.022357723577235773	95	0.26243093922651933	122	0.21328671328671328	207	0.27308707124010556	C	9.340	1.062697	0.19987	0.048358	0.257632	ENSG00000142178	ENST00000270162	T	0.70869	-0.52	3.5	2.39	0.29439	Protein kinase-like domain (1);	0.506824	0.20703	N	0.087231	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.13145	0.007	B	0.04013	0.001	T	0.06607	-1.0817	9	0.09084	T	0.74	.	5.0217	0.14365	0.0:0.6186:0.0:0.3814	rs3746951;rs3746951	15	P57059	SIK1_HUMAN	S	15	ENSP00000270162:G15S	ENSP00000270162:G15S	G	-	1	0	SIK1	43670444	0.800000	0.28916	0.467000	0.27180	0.405000	0.30901	1.484000	0.35508	1.506000	0.48736	0.405000	0.27470	GGT	C|0.827;T|0.173	0.173	strong		0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		T	44846016	C	T	44846016	3	4	23	1	0	0	0	0	1	0	0	0	14317	623	22	2	2360	2	SIK1	21	44846016	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5878	44846016	3283879	4690	21146										
DNMT3L	29947	hgsc.bcm.edu	37	chr21	45670770	45670770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaacatccagaagaagggccTggggctgcctggcttgggcc	16	11	0	2	rs7354779	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:45670770T>C	ENST00000418993.1	-	10	1315	c.832A>G	c.(832-834)Agg>Ggg	p.R278G	DNMT3L_ENST00000270172.3_Missense_Mutation_p.R278G|AP001059.5_ENST00000442785.1_RNA	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	278			R -> G (in dbSNP:rs7354779). {ECO:0000269|PubMed:15489334}.		chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AAGAAGGGCCTGGGGCTGCCT	0.662													T|||	827	0.165136	0.233	0.1484	5008	,	,		11468	0.0595		0.2416	False		,,,				2504	0.1155				p.R278G		Atlas-SNP	.											.	DNMT3L	33	.	0			c.A832G						PASS	.	T	GLY/ARG,GLY/ARG	1051,3355	377.1+/-322.3	132,787,1284	56	50	52		832,832	0.1	0	21	dbSNP_116	52	2265,6335	377.7+/-338.6	340,1585,2375	yes	missense,missense	DNMT3L	NM_013369.2,NM_175867.1	125,125	472,2372,3659	CC,CT,TT		26.3372,23.8538,25.4959	possibly-damaging,possibly-damaging	278/388,278/387	45670770	3316,9690	2203	4300	6503	SO:0001583	missense	29947	exon10			AGGGCCTGGGGCT	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.832A>G	21.37:g.45670770T>C	ENSP00000412862:p.Arg278Gly	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	225	138	0.613333	NM_013369	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	393	0.17994505494505494	112	0.22764227642276422	61	0.1685082872928177	34	0.05944055944055944	186	0.24538258575197888	T	3.648	-0.072092	0.07228	0.238538	0.263372	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.31769	1.48;1.48;1.48	3.32	0.124	0.14714	.	0.528199	0.17788	N	0.161977	T	0.00012	0.0000	L	0.56199	1.76	0.54753	P	1.8999999999991246E-5	P;P	0.35793	0.521;0.521	B;B	0.31442	0.13;0.13	T	0.21586	-1.0241	9	0.59425	D	0.04	-5.4523	9.4162	0.38523	0.0:0.0:0.4421:0.5579	rs7354779;rs17844951;rs17857691;rs52825641;rs56657657;rs7354779	278;278	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	G	278;278;263	ENSP00000270172:R278G;ENSP00000412862:R278G;ENSP00000400242:R263G	ENSP00000270172:R278G	R	-	1	2	DNMT3L	44495198	0.008000	0.16893	0.002000	0.10522	0.060000	0.15804	0.785000	0.26830	-0.117000	0.11872	-1.642000	0.00770	AGG	T|0.786;C|0.214	0.214	strong		0.662	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		C	45670770	T	C	45670770	3	2	23	1	0	0	0	0	1	0	0	0	4678	1579	55	3	343	3	DNMT3L	21	45670770	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	824754	45670770	2459125	4691	21147										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45811343	45811343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cagaaggtgctggtggaggaTcccgagcgcccggcttgcgc	17	12	0	1	rs1556314	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:45811343T>G	ENST00000397928.1	+	11	2074	c.1629T>G	c.(1627-1629)gaT>gaG	p.D543E	TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D543E|TRPM2_ENST00000300482.5_Missense_Mutation_p.D543E	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	543			D -> E (in dbSNP:rs1556314). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGTGGAGGATCCCGAGCGCC	0.662													G|||	1024	0.204473	0.3064	0.2089	5008	,	,		11261	0.1567		0.1769	False		,,,				2504	0.1411				p.D543E		Atlas-SNP	.											.	TRPM2	196	.	0			c.T1629G						PASS	.	G	GLU/ASP	1254,3152	703.0+/-406.9	184,886,1133	65	50	55	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1629	2.8	0	21	dbSNP_88	55	1717,6883	736.6+/-407.0	166,1385,2749	yes	missense	TRPM2	NM_003307.3	45	350,2271,3882	GG,GT,TT		19.9651,28.4612,22.8433	benign	543/1504	45811343	2971,10035	2203	4300	6503	SO:0001583	missense	7226	exon11			GGAGGATCCCGAG	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1629T>G	21.37:g.45811343T>G	ENSP00000381023:p.Asp543Glu	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	64	0.984615	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	461	0.21108058608058608	161	0.32723577235772355	69	0.19060773480662985	95	0.1660839160839161	136	0.17941952506596306	G	0.007	-2.007743	0.00426	0.284612	0.199651	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000397932	T;T;T	0.26373	1.74;1.74;1.74	4.71	2.82	0.32997	.	0.638554	0.16045	N	0.232236	T	0.00012	0.0000	N	0.00077	-2.24	0.19945	P	0.9999431249	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.47381	-0.9122	9	0.02654	T	1	-21.0034	10.0415	0.42162	0.1367:0.0:0.7476:0.1157	rs1556314;rs58121890;rs1556314	543;329;543	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	E	543	ENSP00000300482:D543E;ENSP00000381023:D543E;ENSP00000381026:D543E	ENSP00000300482:D543E	D	+	3	2	TRPM2	44635771	0.016000	0.18221	0.036000	0.18154	0.001000	0.01503	-0.011000	0.12721	-0.135000	0.11495	-1.945000	0.00491	GAT	T|0.777;G|0.223	0.223	strong		0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		G	45811343	T	G	45811343	3	3	23	1	0	0	0	0	1	0	0	0	16583	1432	50	5	1671	5	TRPM2	21	45811343	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	140573	45811343	2318552	4692	21148										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45820196	45820196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgtggacaatgggctgtggCgtgtgaccctgtgcatgctg	16	10	0	1	rs35288229	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:45820196C>T	ENST00000397928.1	+	15	2708	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	TRPM2_ENST00000300481.9_Missense_Mutation_p.R735C|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R755C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R755C	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	755					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGGCTGTGGCGTGTGACCCT	0.687													C|||	65	0.0129792	0.0038	0.0115	5008	,	,		16582	0.0		0.0427	False		,,,				2504	0.0092				p.R755C		Atlas-SNP	.											TRPM2,NS,carcinoma,-1,1	TRPM2	196	1	0			c.C2263T						PASS	.	C	CYS/ARG	49,4357	50.9+/-86.3	1,47,2155	122	86	98		2263	1.7	0.2	21	dbSNP_126	98	471,8127	138.4+/-195.2	16,439,3844	yes	missense	TRPM2	NM_003307.3	180	17,486,5999	TT,TC,CC		5.478,1.1121,3.9988	probably-damaging	755/1504	45820196	520,12484	2203	4299	6502	SO:0001583	missense	7226	exon15			CTGTGGCGTGTGA	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2263C>T	21.37:g.45820196C>T	ENSP00000381023:p.Arg755Cys	Somatic	171	1	0.00584795		WXS	Illumina HiSeq	Phase_I	212	139	0.65566	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	38	0.0173992673992674	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	30	0.0395778364116095	C	14.95	2.687268	0.48097	0.011121	0.05478	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.87	1.73	0.24493	.	0.125185	0.52532	D	0.000068	T	0.50633	0.1627	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	P;P;P	0.60415	0.874;0.8;0.874	T	0.73167	-0.4068	10	0.72032	D	0.01	-20.2901	12.624	0.56620	0.5646:0.4354:0.0:0.0	rs35288229	755;541;755	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	C	755;755;735;755	ENSP00000300482:R755C;ENSP00000381023:R755C;ENSP00000300481:R735C;ENSP00000381026:R755C	ENSP00000300481:R735C	R	+	1	0	TRPM2	44644624	0.016000	0.18221	0.161000	0.22692	0.261000	0.26267	-0.004000	0.12878	0.401000	0.25424	0.609000	0.83330	CGT	C|0.968;T|0.032	0.032	strong		0.687	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45820196	C	T	45820196	3	4	23	1	0	0	0	0	1	0	0	0	16583	768	27	1	2321	1	TRPM2	21	45820196	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8853	45820196	2309699	4693	21149										
KRTAP10-3	386682	hgsc.bcm.edu	37	chr21	45978210	45978210	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatgaagaggaagccccaGagcagacgggcacacagcag	14	11	0	4	rs200250794		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:45978210G>C	ENST00000391620.1	-	1	433	c.389C>G	c.(388-390)tCt>tGt	p.S130C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	130	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGAAGCCCCAGAgcagacggg	0.657																																					p.S130C		Atlas-SNP	.											.	KRTAP10-3	17	.	0			c.C389G						PASS	.	G	,CYS/SER	0,4406		0,0,2203	154	157	156		,389	0.3	0.9	21		156	4,8596	3.7+/-12.6	0,4,4296	no	intron,missense	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,112	0,4,6499	CC,CG,GG		0.0465,0.0,0.0308	,benign	,130/222	45978210	4,13002	2203	4300	6503	SO:0001583	missense	386682	exon1			GCCCCAGAGCAGA	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.389C>G	21.37:g.45978210G>C	ENSP00000375478:p.Ser130Cys	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	199	118	0.592965	NM_198696	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	0.926	-0.714347	0.03206	0.0	4.65E-4	ENSG00000212935	ENST00000391620	T	0.00672	5.89	3.53	0.295	0.15752	.	.	.	.	.	T	0.00496	0.0016	N	0.13168	0.305	0.24401	N	0.994705	B	0.09022	0.002	B	0.12156	0.007	T	0.43972	-0.9358	9	0.02654	T	1	.	7.3519	0.26695	0.0:0.4413:0.4219:0.1367	.	130	P60369	KR103_HUMAN	C	130	ENSP00000375478:S130C	ENSP00000375478:S130C	S	-	2	0	KRTAP10-3	44802638	0.172000	0.23043	0.877000	0.34402	0.106000	0.19336	1.422000	0.34826	0.267000	0.21916	0.561000	0.74099	TCT	G|0.999;C|0.001	0.001	weak		0.657	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			C	45978210	G	C	45978210	3	2	23	1	0	0	0	0	1	0	0	0	8510	942	33	4	280	4	KRTAP10-3	21	45978210	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	158014	45978210	2151685	4694	21150										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011298	46011298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttctggccagagcagagGctgtagcaggcagggcggga	18	9	1	2	rs113437209	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:46011298G>A	ENST00000400368.1	-	1	1088	c.1068C>T	c.(1066-1068)agC>agT	p.S356S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	356						keratin filament (GO:0045095)		p.S356S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGAGCAGAGGCTGTAGCAGG	0.677																																					p.S356S		Atlas-SNP	.											KRTAP10-6,NS,carcinoma,0,1	KRTAP10-6	57	1	1	Substitution - coding silent(1)	stomach(1)	c.C1068T						scavenged	.						29	38	35					21																	46011298		2194	4298	6492	SO:0001819	synonymous_variant	386674	exon1			GCAGAGGCTGTAG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.1068C>T	21.37:g.46011298G>A		Somatic	251	9	0.0358566		WXS	Illumina HiSeq	Phase_I	303	14	0.0462046	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			A|1.000;|0.000	1.000	weak		0.677	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011298	G	A	46011298	2	1	23	1	0	0	0	0	0	0	0	1	8513	1194	42	2		2	KRTAP10-6	21	46011298	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33088	46011298	2118597	4695	21151										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011718	46011718	+	Silent	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggggaggaggtgcagcaagtTggctggcagctagactgctg					rs587693578	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:46011718T>C	ENST00000400368.1	-	1	668	c.648A>G	c.(646-648)ccA>ccG	p.P216P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	216	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TGCAGCAAGTTGGCTGGCAGC	0.667													.|||	174	0.0347444	0.1248	0.0115	5008	,	,		21644	0.001		0.0	False		,,,				2504	0.0				p.P216P		Atlas-SNP	.											KRTAP10-6,caecum,carcinoma,-2,1	KRTAP10-6	57	1	0			c.A648G						scavenged	.						94	122	112					21																	46011718		2195	4300	6495	SO:0001819	synonymous_variant	386674	exon1			GCAAGTTGGCTGG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.648A>G	21.37:g.46011718T>C		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	345	29	0.084058	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.	.	none		0.667	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46011718	T	C	46011718	2	2	23	1	0	0	0	0	0	0	0	1	8513	1799	63	2		2	KRTAP10-6	21	46011718	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	420	46011718	2118177	4696	21152	421	2								
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46011719	46011719	+	Missense_Mutation	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggaggaggtgcagcaagttGgctggcagctagactgctgg					rs202022037	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:46011719G>A	ENST00000400368.1	-	1	667	c.647C>T	c.(646-648)cCa>cTa	p.P216L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	216	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCAGCAAGTTGGCTGGCAGCT	0.667													.|||	17	0.00339457	0.0106	0.0029	5008	,	,		21667	0.001		0.0	False		,,,				2504	0.0				p.P216L		Atlas-SNP	.											KRTAP10-6,caecum,carcinoma,-1,1	KRTAP10-6	57	1	0			c.C647T						scavenged	.						93	121	111					21																	46011719		2195	4300	6495	SO:0001583	missense	386674	exon1			CAAGTTGGCTGGC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.647C>T	21.37:g.46011719G>A	ENSP00000383219:p.Pro216Leu	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	344	28	0.0813954	NM_198688		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394637	0.25205	.	.	ENSG00000188155	ENST00000400368	T	0.02158	4.42	3.12	2.23	0.28157	.	.	.	.	.	T	0.03695	0.0105	M	0.74647	2.275	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.36114	-0.9761	9	0.72032	D	0.01	.	3.9932	0.09546	0.1273:0.0:0.6351:0.2376	.	216	P60371	KR106_HUMAN	L	216	ENSP00000383219:P216L	ENSP00000383219:P216L	P	-	2	0	KRTAP10-6	44836147	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	0.690000	0.25451	0.665000	0.31066	-0.302000	0.09304	CCA	.	.	weak		0.667	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011719	G	A	46011719	3	1	23	1	0	0	0	0	1	0	0	0	8513	1348	47	2	454	2	KRTAP10-6	21	46011719	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1	46011719	2118176	4697	21153	421	2								
ITGB2	3689	hgsc.bcm.edu	37	chr21	46330229	46330229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccaggtgcagccgggcccCgactcgatgcattcccggca	12	17	0	0	rs35903905	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:46330229C>T	ENST00000397850.2	-	4	569	c.117G>A	c.(115-117)tcG>tcA	p.S39S	ITGB2_ENST00000397852.1_Silent_p.S39S|ITGB2_ENST00000397857.1_Silent_p.S39S|ITGB2_ENST00000302347.5_Silent_p.S39S|ITGB2_ENST00000397846.3_Silent_p.S39S|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000355153.4_Silent_p.S39S|ITGB2_ENST00000397854.3_Silent_p.S39S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	39					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCGGGCCCCGACTCGATGC	0.672													C|||	101	0.0201677	0.0008	0.0115	5008	,	,		15866	0.0278		0.0229	False		,,,				2504	0.0419				p.S39S		Atlas-SNP	.											.	ITGB2	107	.	0			c.G117A						PASS	.	C	,	12,4394	21.2+/-45.6	0,12,2191	48	45	46		117,117	-2.8	0.1	21	dbSNP_126	46	134,8466	66.7+/-129.0	2,130,4168	no	coding-synonymous,coding-synonymous	ITGB2	NM_000211.3,NM_001127491.1	,	2,142,6359	TT,TC,CC		1.5581,0.2724,1.1226	,	39/770,39/770	46330229	146,12860	2203	4300	6503	SO:0001819	synonymous_variant	3689	exon3			GGGCCCCGACTCG	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.117G>A	21.37:g.46330229C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	218	56	0.256881	NM_000211	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	CCDS13716.1																																																																																			C|0.987;T|0.013	0.013	strong		0.672	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		T	46330229	C	T	46330229	2	4	23	1	0	0	0	0	0	0	0	1	7894	639	23	1		1	ITGB2	21	46330229	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	318510	46330229	1799666	4698	21154										
COL18A1	80781	hgsc.bcm.edu	37	chr21	46929467	46929467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tacgtgcacctgcggccggcGcgacccacaagcccacccgc	11	20	0	0	rs1050351	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:46929467G>A	ENST00000359759.4	+	38	4713	c.4692G>A	c.(4690-4692)gcG>gcA	p.A1564A	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.A1149A|COL18A1_ENST00000355480.5_Silent_p.A1329A|SLC19A1_ENST00000468508.1_5'Flank			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1564	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGCGGCCGGCGCGACCCACAA	0.731													G|||	2522	0.503594	0.4985	0.5331	5008	,	,		9473	0.5744		0.4235	False		,,,				2504	0.499				p.A1326A		Atlas-SNP	.											.	COL18A1	129	.	0			c.G3978A						PASS	.	G	,	1341,2045		325,691,677	3	5	4		3987,3447	-8.6	0	21	dbSNP_86	4	2702,4614		621,1460,1577	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	946,2151,2254	AA,AG,GG		36.9328,39.6043,37.778	,	1329/1520,1149/1340	46929467	4043,6659	1693	3658	5351	SO:0001819	synonymous_variant	80781	exon39			GCCGGCGCGACCC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4692G>A	21.37:g.46929467G>A		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	11	7	0.636364	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37		1064	0.48717948717948717	243	0.49390243902439024	168	0.46408839779005523	338	0.5909090909090909	315	0.4155672823218997	G	0.442	-0.897882	0.02472	0.396043	0.369328	ENSG00000182871	ENST00000423214	.	.	.	4.3	-8.61	0.00885	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	5.000000000032756E-6	.	.	.	.	.	.	T	0.25745	-1.0123	3	.	.	.	.	1.8031	0.03075	0.4365:0.2004:0.2121:0.151	rs1050351;rs3190648;rs17416842;rs58486368;rs1050351	.	.	.	H	134	.	.	R	+	2	0	COL18A1	45753895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.970000	0.00668	-3.489000	0.00153	-1.036000	0.02392	CGC	G|0.516;A|0.484	0.484	strong		0.731	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			A	46929467	G	A	46929467	2	1	23	1	0	0	0	0	0	0	0	1	3675	1074	38	1		1	COL18A1	21	46929467	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	599238	46929467	1200428	4699	21155										
FTCD	10841	hgsc.bcm.edu	37	chr21	47557222	47557222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttgaaatatgcgccaaacacGcccatctccagggctttggc	9	13	1	1	rs10432965	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47557222G>A	ENST00000291670.5	-	13	1513	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	FTCD_ENST00000355384.2_Missense_Mutation_p.R476C|FTCD_ENST00000397743.1_Missense_Mutation_p.R476C|FTCD_ENST00000397746.3_Silent_p.G490G|FTCD_ENST00000359679.2_Silent_p.G490G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Silent_p.G490G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	490	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CGCCAAACACGCCCATCTCCA	0.602													G|||	839	0.167532	0.2103	0.0951	5008	,	,		18852	0.3512		0.0338	False		,,,				2504	0.1094				p.G490G		Atlas-SNP	.											.	FTCD	59	.	0			c.C1470T						PASS	.	G	,	840,3566	331.0+/-301.8	82,676,1445	142	132	135		1470,1470	-8.2	0.2	21	dbSNP_119	135	352,8248	118.1+/-177.6	1,350,3949	no	coding-synonymous,coding-synonymous	FTCD	NM_006657.2,NM_206965.1	,	83,1026,5394	AA,AG,GG		4.093,19.0649,9.165	,	490/542,490/542	47557222	1192,11814	2203	4300	6503	SO:0001819	synonymous_variant	10841	exon13			AAACACGCCCATC	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1470C>T	21.37:g.47557222G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	114	63	0.552632	NM_206965	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	CCDS13731.1	377|377	0.17261904761904762|0.17261904761904762	97|97	0.19715447154471544|0.19715447154471544	27|27	0.07458563535911603|0.07458563535911603	227|227	0.3968531468531469|0.3968531468531469	26|26	0.03430079155672823|0.03430079155672823	G|G	0.542|0.542	-0.853002|-0.853002	0.02630|0.02630	0.190649|0.190649	0.04093|0.04093	ENSG00000160282|ENSG00000160282	ENST00000446405|ENST00000355384;ENST00000397743	.|D;D	.|0.84800	.|-1.9;-1.9	4.12|4.12	-8.25|-8.25	0.01025|0.01025	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.52501|0.52501	P|P	4.300000000001525E-5|4.300000000001525E-5	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.24621|0.24621	-1.0155|-1.0155	3|7	.|0.72032	.|D	.|0.01	.|.	2.3273|2.3273	0.04226|0.04226	0.2715:0.0919:0.3691:0.2676|0.2715:0.0919:0.3691:0.2676	rs10432965;rs10432965|rs10432965;rs10432965	.|476	.|B7WPK3	.|.	V|C	31|476	.|ENSP00000347545:R476C;ENSP00000380851:R476C	.|ENSP00000347545:R476C	A|R	-|-	2|1	0|0	FTCD|FTCD	46381650|46381650	0.000000|0.000000	0.05858|0.05858	0.210000|0.210000	0.23637|0.23637	0.100000|0.100000	0.18952|0.18952	-4.192000|-4.192000	0.00277|0.00277	-1.093000|-1.093000	0.03058|0.03058	-1.360000|-1.360000	0.01215|0.01215	GCG|CGT	G|0.872;A|0.128	0.128	strong		0.602	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		A	47557222	G	A	47557222	2	1	23	1	0	0	0	0	0	0	0	1	6081	1074	38	1		1	FTCD	21	47557222	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	627755	47557222	572673	4700	21156										
LSS	4047	hgsc.bcm.edu	37	chr21	47614443	47614443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcatggcccagcatgtgttAtggatctgggactgggcact	13	9	2	0	rs2254522	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47614443A>G	ENST00000397728.3	-	20	2028	c.1950T>C	c.(1948-1950)caT>caC	p.H650H	AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000522411.1_Silent_p.H639H|LSS_ENST00000356396.4_Silent_p.H650H|LSS_ENST00000457828.2_Silent_p.H570H	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	650					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCATGTGTTATGGATCTGGG	0.622													G|||	1695	0.338458	0.3253	0.2637	5008	,	,		20984	0.5655		0.1958	False		,,,				2504	0.3221				p.H650H	Pancreas(114;955 2313 34923 50507)	Atlas-SNP	.											.	LSS	50	.	0			c.T1950C						PASS	.	G	,,,	1379,3027	687.5+/-404.9	223,933,1047	98	78	85		1950,1917,1710,1950	1.2	1	21	dbSNP_100	85	1740,6860	735.0+/-406.9	167,1406,2727	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	,,,	390,2339,3774	GG,GA,AA		20.2326,31.2982,23.9812	,,,	650/733,639/722,570/653,650/733	47614443	3119,9887	2203	4300	6503	SO:0001819	synonymous_variant	4047	exon20			TGTGTTATGGATC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1950T>C	21.37:g.47614443A>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	141	76	0.539007	NM_001001438	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	CCDS13733.1	703	0.3218864468864469	126	0.25609756097560976	76	0.20994475138121546	347	0.6066433566433567	154	0.20316622691292877	G	5.699	0.313580	0.10789	0.312982	0.202326	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0859	0.36581	0.3764:0.0:0.6236:0.0	rs2254522;rs2254522	.	.	.	Q	18	.	.	X	-	1	0	LSS	46438871	1.000000	0.71417	0.967000	0.41034	0.432000	0.31715	2.487000	0.45268	-0.190000	0.10465	-0.726000	0.03593	TAA	A|0.712;C|0.002	.	strong		0.622	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			G	47614443	A	G	47614443	2	3	23	1	0	0	0	0	0	0	0	1	9065	446	16	2		2	LSS	21	47614443	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	57221	47614443	515452	4701	21157										
PCNT	5116	hgsc.bcm.edu	37	chr21	47805773	47805773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaccaggttttatccttaagTcacgagatagaagagtgccg	11	8	1	3	rs61735805	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47805773T>C	ENST00000359568.5	+	17	3446	c.3339T>C	c.(3337-3339)agT>agC	p.S1113S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1113					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TATCCTTAAGTCACGAGATAG	0.493													T|||	78	0.0155751	0.0008	0.0216	5008	,	,		20050	0.003		0.0398	False		,,,				2504	0.0194				p.S1113S		Atlas-SNP	.											.	PCNT	283	.	0			c.T3339C						PASS	.	T		36,4370	41.6+/-74.8	0,36,2167	124	130	128		3339	-5.8	0	21	dbSNP_129	128	383,8217	125.0+/-183.6	10,363,3927	no	coding-synonymous	PCNT	NM_006031.5		10,399,6094	CC,CT,TT		4.4535,0.8171,3.2216		1113/3337	47805773	419,12587	2203	4300	6503	SO:0001819	synonymous_variant	5116	exon17			CTTAAGTCACGAG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3339T>C	21.37:g.47805773T>C		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	126	42	0.333333	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			T|0.972;C|0.028	0.028	strong		0.493	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47805773	T	C	47805773	2	2	23	1	0	0	0	0	0	0	0	1	11590	1664	58	2		2	PCNT	21	47805773	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	191330	47805773	324122	4702	21158										
PCNT	5116	hgsc.bcm.edu	37	chr21	47808679	47808679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggccctccaggacgccctgCgcaggctgctgggtttgttt	15	13	0	0	rs7279204	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47808679C>T	ENST00000359568.5	+	18	3594	c.3487C>T	c.(3487-3489)Cgc>Tgc	p.R1163C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1163			R -> C (in dbSNP:rs7279204).		brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGACGCCCTGCGCAGGCTGCT	0.677													C|||	762	0.152157	0.0711	0.1816	5008	,	,		16098	0.1984		0.1312	False		,,,				2504	0.2147				p.R1163C		Atlas-SNP	.											PCNT,face,carcinoma,-1,1	PCNT	283	1	0			c.C3487T						scavenged	.	C	CYS/ARG	288,4118	152.9+/-186.6	13,262,1928	55	57	56		3487	-3.1	0.1	21	dbSNP_116	56	1110,7490	226.8+/-262.4	71,968,3261	yes	missense	PCNT	NM_006031.5	180	84,1230,5189	TT,TC,CC		12.907,6.5365,10.7489	probably-damaging	1163/3337	47808679	1398,11608	2203	4300	6503	SO:0001583	missense	5116	exon18			GCCCTGCGCAGGC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3487C>T	21.37:g.47808679C>T	ENSP00000352572:p.Arg1163Cys	Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	135	80	0.592593	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	303	0.13873626373626374	36	0.07317073170731707	49	0.13535911602209943	114	0.1993006993006993	104	0.13720316622691292	C	12.00	1.806265	0.31961	0.065365	0.12907	ENSG00000160299	ENST00000359568	T	0.01685	4.69	4.57	-3.08	0.05347	.	0.246216	0.19223	N	0.119601	T	0.00012	0.0000	M	0.62723	1.935	0.58432	P	1.0000000000287557E-6	D;D	0.89917	1.0;1.0	D;D	0.83275	0.981;0.996	T	0.04128	-1.0975	9	0.72032	D	0.01	.	15.9319	0.79668	0.2121:0.7879:0.0:0.0	rs7279204	1045;1163	O95613-2;O95613	.;PCNT_HUMAN	C	1163	ENSP00000352572:R1163C	ENSP00000352572:R1163C	R	+	1	0	PCNT	46633107	0.095000	0.21747	0.091000	0.20842	0.071000	0.16799	0.207000	0.17395	-0.233000	0.09797	-0.274000	0.10170	CGC	C|0.883;T|0.117	0.117	strong		0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47808679	C	T	47808679	3	4	23	1	0	0	0	0	1	0	0	0	11590	768	27	1	3557	1	PCNT	21	47808679	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2906	47808679	321216	4703	21159										
PCNT	5116	hgsc.bcm.edu	37	chr21	47821588	47821588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctcctgagggtccagaaAtacagttagaggtgacacag	12	10	0	4	rs6518291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47821588A>G	ENST00000359568.5	+	26	5022	c.4915A>G	c.(4915-4917)Ata>Gta	p.I1639V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1639			I -> V (in dbSNP:rs6518291).		brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGGTCCAGAAATACAGTTAGA	0.607													G|||	1676	0.334665	0.5862	0.2752	5008	,	,		13466	0.1935		0.2167	False		,,,				2504	0.3037				p.I1639V		Atlas-SNP	.											.	PCNT	283	.	0			c.A4915G						PASS	.	G	VAL/ILE	2361,2045	566.8+/-382.0	625,1111,467	84	81	82		4915	1.8	0	21	dbSNP_116	82	1718,6882	737.3+/-407.0	156,1406,2738	yes	missense	PCNT	NM_006031.5	29	781,2517,3205	GG,GA,AA		19.9767,46.414,31.3624	benign	1639/3337	47821588	4079,8927	2203	4300	6503	SO:0001583	missense	5116	exon26			CCAGAAATACAGT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4915A>G	21.37:g.47821588A>G	ENSP00000352572:p.Ile1639Val	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	132	83	0.628788	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	655	0.2999084249084249	285	0.5792682926829268	87	0.24033149171270718	112	0.1958041958041958	171	0.22559366754617413	G	0.492	-0.875115	0.02550	0.53586	0.199767	ENSG00000160299	ENST00000359568	T	0.53857	0.6	5.64	1.8	0.24995	.	2.616870	0.02237	N	0.065411	T	0.00012	0.0000	N	0.00879	-1.12	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44329	-0.9335	9	0.28530	T	0.3	.	6.0333	0.19692	0.294:0.1264:0.5796:0.0	rs6518291;rs60162159;rs6518291	1521;1639	O95613-2;O95613	.;PCNT_HUMAN	V	1639	ENSP00000352572:I1639V	ENSP00000352572:I1639V	I	+	1	0	PCNT	46646016	0.015000	0.18098	0.000000	0.03702	0.002000	0.02628	1.769000	0.38522	-0.135000	0.11495	-0.119000	0.15052	ATA	A|0.679;G|0.321	0.321	strong		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47821588	A	G	47821588	3	3	23	1	0	0	0	0	1	0	0	0	11590	101	4	2	5017	2	PCNT	21	47821588	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	12909	47821588	308307	4704	21160										
PCNT	5116	hgsc.bcm.edu	37	chr21	47851796	47851796	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgggtggtggacttgcaagcGatgcttgaaaaggtgcagca	16	7	0	1	rs9983522	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47851796G>A	ENST00000359568.5	+	38	8525	c.8418G>A	c.(8416-8418)gcG>gcA	p.A2806A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2806					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTTGCAAGCGATGCTTGAAA	0.582													G|||	734	0.146565	0.0666	0.1801	5008	,	,		20552	0.1984		0.1252	False		,,,				2504	0.1994				p.A2806A		Atlas-SNP	.											.	PCNT	283	.	0			c.G8418A						PASS	.	G		279,4127	155.2+/-188.4	11,257,1935	59	58	58		8418	-10.6	0	21	dbSNP_119	58	1054,7546	221.6+/-259.0	63,928,3309	no	coding-synonymous	PCNT	NM_006031.5		74,1185,5244	AA,AG,GG		12.2558,6.3323,10.2491		2806/3337	47851796	1333,11673	2203	4300	6503	SO:0001819	synonymous_variant	5116	exon38			GCAAGCGATGCTT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8418G>A	21.37:g.47851796G>A		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	56	38	0.678571	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			G|0.887;A|0.113	0.113	strong		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47851796	G	A	47851796	2	1	23	1	0	0	0	0	0	0	0	1	11590	1045	37	1		1	PCNT	21	47851796	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	30208	47851796	278099	4705	21161										
PCNT	5116	hgsc.bcm.edu	37	chr21	47855876	47855876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcaagcagcttcagcagacAgtgagagacctggagtcgaa	12	9	2	3	rs17371795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr21:47855876A>G	ENST00000359568.5	+	39	8918	c.8811A>G	c.(8809-8811)acA>acG	p.T2937T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2937					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTCAGCAGACAGTGAGAGACC	0.567													A|||	736	0.146965	0.0666	0.1801	5008	,	,		17570	0.1994		0.1252	False		,,,				2504	0.2004				p.T2937T		Atlas-SNP	.											.	PCNT	283	.	0			c.A8811G						PASS	.	A		280,4126	155.5+/-188.7	11,258,1934	91	96	95		8811	-6.5	0	21	dbSNP_123	95	1056,7544	223.0+/-259.9	63,930,3307	no	coding-synonymous	PCNT	NM_006031.5		74,1188,5241	GG,GA,AA		12.2791,6.355,10.2722		2937/3337	47855876	1336,11670	2203	4300	6503	SO:0001819	synonymous_variant	5116	exon39			GCAGACAGTGAGA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8811A>G	21.37:g.47855876A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	130	78	0.6	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			A|0.881;G|0.119	0.119	strong		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47855876	A	G	47855876	2	3	23	1	0	0	0	0	0	0	0	1	11590	175	7	3		3	PCNT	21	47855876	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4080	47855876	274019	4706	21162										
POTEH	23784	hgsc.bcm.edu	37	chr22	16287562	16287562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcttgccgctccccctgcaGcaggggaagcagtggcagca	13	15	1	0	rs202187764	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:16287562G>C	ENST00000343518.6	-	1	375	c.324C>G	c.(322-324)tgC>tgG	p.C108W		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	108										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCAGCAGGGGAAGC	0.587																																					p.C108W		Atlas-SNP	.											POTEH,NS,carcinoma,0,1	POTEH	114	1	0			c.C324G						scavenged	.						97	113	107					22																	16287562		2057	3890	5947	SO:0001583	missense	23784	exon1			CCTGCAGCAGGGG	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.324C>G	22.37:g.16287562G>C	ENSP00000340610:p.Cys108Trp	Somatic	467	7	0.0149893		WXS	Illumina HiSeq	Phase_I	159	16	0.100629	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.136	0.023586	0.08006	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.37411	1.2	.	.	.	.	.	.	.	.	T	0.40297	0.1111	L	0.53249	1.67	0.09310	N	1	P	0.46578	0.88	P	0.51615	0.675	T	0.21314	-1.0249	7	0.38643	T	0.18	.	.	.	.	.	108	Q6S545	POTEH_HUMAN	W	108	ENSP00000340610:C108W	ENSP00000340610:C108W	C	-	3	2	POTEH	14667562	0.075000	0.21258	0.021000	0.16686	0.022000	0.10575	0.263000	0.18478	0.269000	0.21961	0.274000	0.19336	TGC	G|0.975;C|0.025	0.025	strong		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287562	G	C	16287562	3	2	23	1	0	0	0	0	1	0	0	0	12267	963	34	4	1353	4	POTEH	22	16287562	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10		16287562	35017004	4707	21163										
CECR5	27440	hgsc.bcm.edu	37	chr22	17640045	17640045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccacagcatagcacctgcGggcggggcggccctggagcc	16	16	0	0	rs7287672	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:17640045G>A	ENST00000336737.4	-	1	122	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	CECR5-AS1_ENST00000329743.3_RNA|CECR5_ENST00000399852.3_Missense_Mutation_p.R33C|CECR5-AS1_ENST00000431923.1_RNA|CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	33						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TAGCACCTgcgggcggggcgg	0.791													G|||	1052	0.210064	0.3177	0.1844	5008	,	,		5516	0.0347		0.2803	False		,,,				2504	0.1912				p.R33C		Atlas-SNP	.											.	CECR5	46	.	0			c.C97T						PASS	.						2	2	2					22																	17640045		998	2399	3397	SO:0001583	missense	27440	exon1			ACCTGCGGGCGGG	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.97C>T	22.37:g.17640045G>A	ENSP00000337358:p.Arg33Cys	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_033070	B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	CCDS33595.1	471	0.21565934065934067	162	0.32926829268292684	85	0.23480662983425415	24	0.04195804195804196	200	0.2638522427440633	G	13.35	2.211993	0.39102	.	.	ENSG00000069998	ENST00000336737;ENST00000399852	T;T	0.28255	1.81;1.62	2.3	-1.53	0.08611	.	1.332850	0.05843	N	0.619692	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P	0.49559	0.925;0.833	B;B	0.37731	0.257;0.196	T	0.29336	-1.0015	9	0.66056	D	0.02	-2.3391	5.1552	0.15031	0.0:0.4811:0.3372:0.1817	rs7287672;rs11550529	33;33	A8MYZ9;Q9BXW7	.;CECR5_HUMAN	C	33	ENSP00000337358:R33C;ENSP00000382745:R33C	ENSP00000337358:R33C	R	-	1	0	CECR5	16020045	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.853000	0.04303	-0.249000	0.09569	0.561000	0.74099	CGC	G|0.785;A|0.215	0.215	strong		0.791	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		A	17640045	G	A	17640045	3	1	23	1	0	0	0	0	1	0	0	0	3207	1116	39	1	1206	1	CECR5	22	17640045	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1352483	17640045	33664521	4708	21164										
CECR1	51816	hgsc.bcm.edu	37	chr22	17662874	17662874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccagtggccatcagagtggcTacagggtggttcctcaagtc	13	11	2	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:17662874T>C	ENST00000399839.1	-	9	1548	c.1278A>G	c.(1276-1278)gtA>gtG	p.V426V	CECR1_ENST00000399837.2_Silent_p.V426V|CECR1_ENST00000330232.4_Silent_p.V185V|CECR1_ENST00000449907.2_Silent_p.V384V|CECR1_ENST00000262607.3_Silent_p.V426V	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	426					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGAGTGGCTACAGGGTGGT	0.498																																					p.V426V		Atlas-SNP	.											CECR1_ENST00000330232,NS,lymphoid_neoplasm,-2,4	CECR1	77	4	0			c.A1278G						scavenged	.						83	73	77					22																	17662874		2203	4300	6503	SO:0001819	synonymous_variant	51816	exon8			AGTGGCTACAGGG	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1278A>G	22.37:g.17662874T>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	124	2	0.016129	NM_017424	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	CCDS13742.1																																																																																			.	.	none		0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			C	17662874	T	C	17662874	2	2	23	1	0	0	0	0	0	0	0	1	3205	1509	53	3		3	CECR1	22	17662874	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	22829	17662874	33641692	4709	21165										
CECR1	51816	hgsc.bcm.edu	37	chr22	17669306	17669306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcagagcttccttgtagtcaTgcaaggagtggccagtgtcc	12	10	2	1	rs2231495	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:17669306T>C	ENST00000399839.1	-	7	1274	c.1004A>G	c.(1003-1005)cAt>cGt	p.H335R	CECR1_ENST00000399837.2_Missense_Mutation_p.H335R|CECR1_ENST00000330232.4_Missense_Mutation_p.H94R|CECR1_ENST00000449907.2_Missense_Mutation_p.H293R|CECR1_ENST00000262607.3_Missense_Mutation_p.H335R|CECR1_ENST00000480276.1_5'Flank	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	335			H -> R (in dbSNP:rs2231495). {ECO:0000269|PubMed:10756095, ECO:0000269|PubMed:14702039}.		adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTTGTAGTCATGCAAGGAGTG	0.612													T|||	1826	0.364617	0.5696	0.3156	5008	,	,		18402	0.2262		0.3211	False		,,,				2504	0.3098				p.H335R		Atlas-SNP	.											.	CECR1	77	.	0			c.A1004G						PASS	.	T	ARG/HIS,ARG/HIS	2411,1995	615.3+/-392.5	659,1093,451	84	68	73		1004,281	0.3	0	22	dbSNP_98	73	2864,5736	449.2+/-362.0	478,1908,1914	yes	missense,missense	CECR1	NM_017424.2,NM_177405.1	29,29	1137,3001,2365	CC,CT,TT		33.3023,45.2792,40.5582	benign,benign	335/512,94/271	17669306	5275,7731	2203	4300	6503	SO:0001583	missense	51816	exon6			TAGTCATGCAAGG	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1004A>G	22.37:g.17669306T>C	ENSP00000382733:p.His335Arg	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	75	74	0.986667	NM_017424	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	728	0.3333333333333333	258	0.524390243902439	99	0.27348066298342544	121	0.21153846153846154	250	0.32981530343007914	T	2.455	-0.325573	0.05350	0.547208	0.333023	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.24	0.283	0.15696	Adenosine/AMP deaminase (1);	0.345183	0.32640	N	0.005837	T	0.00012	0.0000	N	0.03948	-0.315	0.54753	P	1.3000000000040757E-5	B;B	0.29212	0.237;0.001	B;B	0.16289	0.015;0.0	T	0.46428	-0.9192	9	0.25751	T	0.34	.	2.3977	0.04394	0.5396:0.1884:0.0:0.272	rs2231495;rs61542193;rs2231495	335;94	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	R	335;94;335;293;335	ENSP00000382733:H335R;ENSP00000332871:H94R;ENSP00000262607:H335R;ENSP00000406443:H293R;ENSP00000382731:H335R	ENSP00000262607:H335R	H	-	2	0	CECR1	16049306	0.974000	0.33945	0.000000	0.03702	0.005000	0.04900	2.520000	0.45554	0.033000	0.15463	-0.527000	0.04329	CAT	T|0.627;C|0.373	0.373	strong		0.612	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			C	17669306	T	C	17669306	3	2	23	1	0	0	0	0	1	0	0	0	3205	1464	51	2	547	2	CECR1	22	17669306	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6432	17669306	33635260	4710	21166										
MICAL3	57553	hgsc.bcm.edu	37	chr22	18300879	18300879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaaagggaatctcctccacGctctccacaaacgacttccg	7	16	2	0	rs11704809	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:18300879G>A	ENST00000441493.2	-	26	4900	c.4548C>T	c.(4546-4548)agC>agT	p.S1516S	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1516					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCTCCTCCACGCTCTCCACAA	0.637													G|||	761	0.151957	0.034	0.1844	5008	,	,		9836	0.0843		0.3161	False		,,,				2504	0.1892				p.S1516S		Atlas-SNP	.											.	MICAL3	53	.	0			c.C4548T						PASS	.	G		287,3845		9,269,1788	45	44	44		4548	-8.1	0.7	22	dbSNP_120	44	2758,5634		453,1852,1891	no	coding-synonymous	MICAL3	NM_015241.2		462,2121,3679	AA,AG,GG		32.8646,6.9458,24.3133		1516/2003	18300879	3045,9479	2066	4196	6262	SO:0001819	synonymous_variant	57553	exon26			CTCCACGCTCTCC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4548C>T	22.37:g.18300879G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	133	60	0.451128	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1	372	0.17032967032967034	19	0.03861788617886179	75	0.20718232044198895	49	0.08566433566433566	229	0.3021108179419525	G	2.932	-0.220901	0.06061	0.069458	0.328646	ENSG00000093100	ENST00000252134	.	.	.	4.9	-8.09	0.01090	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999519218	.	.	.	.	.	.	T	0.05370	-1.0889	3	.	.	.	.	15.7355	0.77839	0.6563:0.0:0.3437:0.0	rs11704809;rs17339582	.	.	.	V	498	.	.	A	-	2	0	XXbac-B461K10.4	16680879	0.145000	0.22656	0.749000	0.31150	0.370000	0.29829	-0.400000	0.07241	-1.838000	0.01187	-0.291000	0.09656	GCG	G|0.800;A|0.200	0.200	strong		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18300879	G	A	18300879	2	1	23	1	0	0	0	0	0	0	0	1	9571	1078	38	1		1	MICAL3	22	18300879	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	631573	18300879	33003687	4711	21167										
MICAL3	57553	hgsc.bcm.edu	37	chr22	18301693	18301693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tggaggccgccacgggtggcTggggctgcgggctccctggt	20	12	0	0	rs8135914	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:18301693T>C	ENST00000441493.2	-	26	4086	c.3734A>G	c.(3733-3735)cAg>cGg	p.Q1245R		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1245	Pro-rich.			Q -> R (in Ref. 5; BAA74842). {ECO:0000305}.	actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACGGGTGGCTGGGGCTGCGG	0.682													C|||	1277	0.254992	0.3812	0.2161	5008	,	,		12128	0.0893		0.331	False		,,,				2504	0.2045				p.Q1245R		Atlas-SNP	.											.	MICAL3	53	.	0			c.A3734G						PASS	.	C	ARG/GLN	1292,2596		229,834,881	11	15	14		3734	-4.2	0	22	dbSNP_116	14	2684,5550		476,1732,1909	yes	missense	MICAL3	NM_015241.2	43	705,2566,2790	CC,CT,TT		32.5966,33.2305,32.7999	benign	1245/2003	18301693	3976,8146	1944	4117	6061	SO:0001583	missense	57553	exon26			GGTGGCTGGGGCT	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3734A>G	22.37:g.18301693T>C	ENSP00000416015:p.Gln1245Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	55	20	0.363636	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	548|548	0.2509157509157509|0.2509157509157509	180|180	0.36585365853658536|0.36585365853658536	86|86	0.23756906077348067|0.23756906077348067	45|45	0.07867132867132867|0.07867132867132867	237|237	0.31266490765171506|0.31266490765171506	C|C	5.042|5.042	0.193465|0.193465	0.09599|0.09599	0.332305|0.332305	0.325966|0.325966	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.62232|.	0.04|.	4.73|4.73	-4.25|-4.25	0.03766|0.03766	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.41822|0.41822	-0.9487|-0.9487	8|4	0.10902|.	T|.	0.67|.	.|.	6.364|6.364	0.21445|0.21445	0.1275:0.3101:0.463:0.0994|0.1275:0.3101:0.463:0.0994	rs8135914;rs61587067|rs8135914;rs61587067	1245|.	Q7RTP6|.	MICA3_HUMAN|.	R|G	1245|227	ENSP00000416015:Q1245R|.	ENSP00000416015:Q1245R|.	Q|S	-|-	2|1	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681693|16681693	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.645000|-1.645000	0.02000|0.02000	-1.684000|-1.684000	0.01443|0.01443	-2.475000|-2.475000	0.00201|0.00201	CAG|AGC	T|0.774;C|0.226	0.226	strong		0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			C	18301693	T	C	18301693	3	2	23	1	0	0	0	0	1	0	0	0	9571	1580	55	3	2302	3	MICAL3	22	18301693	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	814	18301693	33002873	4712	21168										
DGCR6	8214	hgsc.bcm.edu	37	chr22	18893902	18893902	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcgccatggagcgctacgcGggcgccttggaggaggtggc	19	12	0	0	rs408469	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:18893902G>C	ENST00000331444.6	+	1	167	c.15G>C	c.(13-15)gcG>gcC	p.A5A	DGCR6_ENST00000608842.1_Silent_p.A5A|DGCR6_ENST00000413981.1_Intron	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	5				MERYAGALEEVA -> PKGAKAGYQPRG (in Ref. 3). {ECO:0000305}.	cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						AGCGCTACGCGGGCGCCTTGG	0.711													G|||	222	0.0443291	0.0325	0.0173	5008	,	,		10985	0.0367		0.0358	False		,,,				2504	0.0961				p.A5A		Atlas-SNP	.											.	DGCR6	12	.	0			c.G15C						PASS	.	G		105,4237		1,103,2067	9	10	10		15	-5.2	0	22	dbSNP_80	10	242,8254		2,238,4008	no	coding-synonymous	DGCR6	NM_005675.4		3,341,6075	CC,CG,GG		2.8484,2.4182,2.7029		5/221	18893902	347,12491	2171	4248	6419	SO:0001819	synonymous_variant	8214	exon1			CTACGCGGGCGCC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.15G>C	22.37:g.18893902G>C		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_005675	B2RCH5|D3DX15|G5E9J8|Q9BY28	Silent	SNP	ENST00000331444.6	37	CCDS13753.1																																																																																			G|0.967;C|0.033	0.033	strong		0.711	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		C	18893902	G	C	18893902	2	2	23	1	0	0	0	0	0	0	0	1	4462	1103	39	4		4	DGCR6	22	18893902	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	592209	18893902	32410664	4713	21169										
DGCR6	8214	hgsc.bcm.edu	37	chr22	18893995	18893995	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcctggtgaaggagttgccCaggtacgcgggcggggcggg	21	9	0	1	rs409155	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:18893995C>G	ENST00000331444.6	+	1	260	c.108C>G	c.(106-108)ccC>ccG	p.P36P	DGCR6_ENST00000608842.1_Silent_p.P36P|DGCR6_ENST00000413981.1_Intron	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	36					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						AGGAGTTGCCCAGGTAcgcgg	0.721													C|||	222	0.0443291	0.0325	0.0173	5008	,	,		11099	0.0367		0.0358	False		,,,				2504	0.0961				p.P36P		Atlas-SNP	.											.	DGCR6	12	.	0			c.C108G						PASS	.	C		132,4238		4,124,2057	13	15	14		108	2.9	1	22	dbSNP_80	14	296,8258		7,282,3988	no	coding-synonymous	DGCR6	NM_005675.4		11,406,6045	GG,GC,CC		3.4604,3.0206,3.3117		36/221	18893995	428,12496	2185	4277	6462	SO:0001819	synonymous_variant	8214	exon1			GTTGCCCAGGTAC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.108C>G	22.37:g.18893995C>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_005675	B2RCH5|D3DX15|G5E9J8|Q9BY28	Silent	SNP	ENST00000331444.6	37	CCDS13753.1																																																																																			C|0.969;G|0.031	0.031	strong		0.721	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		G	18893995	C	G	18893995	2	3	23	1	0	0	0	0	0	0	0	1	4462	581	21	4		4	DGCR6	22	18893995	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	93	18893995	32410571	4714	21170										
DGCR2	9993	hgsc.bcm.edu	37	chr22	19026613	19026613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggctggcaggctgacctccAcaggctcaaaagcatcatcg	12	13	2	1	rs2072123	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19026613A>G	ENST00000263196.7	-	10	1665	c.1418T>C	c.(1417-1419)gTg>gCg	p.V473A	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.V432A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	473			V -> A (in dbSNP:rs2072123). {ECO:0000269|PubMed:7655455}.		cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCTGACCTCCACAGGCTCAAA	0.642													G|||	2161	0.43151	0.5696	0.4078	5008	,	,		16113	0.3442		0.3559	False		,,,				2504	0.4294				p.V473A		Atlas-SNP	.											.	DGCR2	45	.	0			c.T1418C						PASS	.	G	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	2235,2169		580,1075,547	36	37	37		1295,1286,1409,1418	-4.4	0	22	dbSNP_96	37	3254,5346		636,1982,1682	yes	missense,missense,missense,missense	DGCR2	NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2	64,64,64,64	1216,3057,2229	GG,GA,AA		37.8372,49.2507,42.2101	benign,benign,benign,benign	432/510,429/507,470/548,473/551	19026613	5489,7515	2202	4300	6502	SO:0001583	missense	9993	exon10			ACCTCCACAGGCT	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1418T>C	22.37:g.19026613A>G	ENSP00000263196:p.Val473Ala	Somatic	203	1	0.00492611		WXS	Illumina HiSeq	Phase_I	183	178	0.972678	NM_005137	A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	CCDS33598.1	862	0.3946886446886447	254	0.516260162601626	145	0.4005524861878453	193	0.3374125874125874	270	0.3562005277044855	G	0.469	-0.885473	0.02511	0.507493	0.378372	ENSG00000070413	ENST00000537045;ENST00000263196	T;T	0.41400	1.0;1.0	5.61	-4.41	0.03590	.	0.768784	0.12964	N	0.424762	T	0.00012	0.0000	N	0.04043	-0.29	0.51012	P	9.300000000000974E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35895	-0.9770	9	0.07175	T	0.84	.	2.7147	0.05184	0.4604:0.0899:0.2668:0.1829	rs2072123;rs17743390;rs56724907;rs2072123	429;473	B7Z3T5;P98153	.;IDD_HUMAN	A	432;473	ENSP00000440062:V432A;ENSP00000263196:V473A	ENSP00000263196:V473A	V	-	2	0	DGCR2	17406613	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.707000	0.05041	-1.523000	0.01767	-1.714000	0.00712	GTG	T|0.004;G|0.408	0.408	strong		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		G	19026613	A	G	19026613	3	3	23	1	0	0	0	0	1	0	0	0	4461	159	6	2	238	2	DGCR2	22	19026613	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	132618	19026613	32277953	4715	21171										
TSSK2	23617	hgsc.bcm.edu	37	chr22	19119545	19119545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcctgtacatcatggtctgCggctccatgccctatgacga	9	13	2	1	rs45604134	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19119545C>T	ENST00000399635.2	+	1	1225	c.633C>T	c.(631-633)tgC>tgT	p.C211C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCATGGTCTGCGGCTCCATGC	0.597													C|||	815	0.16274	0.1195	0.134	5008	,	,		20404	0.125		0.173	False		,,,				2504	0.2699				p.C211C		Atlas-SNP	.											.	TSSK2	29	.	0			c.C633T						PASS	.	C	,	489,3917	228.1+/-243.1	30,429,1744	94	89	91		,633	-8.6	0.9	22	dbSNP_127	91	1589,7011	292.7+/-301.0	165,1259,2876	yes	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	195,1688,4620	TT,TC,CC		18.4767,11.0985,15.9772	,	,211/359	19119545	2078,10928	2203	4300	6503	SO:0001819	synonymous_variant	23617	exon1			GGTCTGCGGCTCC	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.633C>T	22.37:g.19119545C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	117	56	0.478632	NM_053006	Q8IY55	Silent	SNP	ENST00000399635.2	37	CCDS13755.1																																																																																			C|0.846;T|0.154	0.154	strong		0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			T	19119545	C	T	19119545	2	4	23	1	0	0	0	0	0	0	0	1	16666	776	27	1		1	TSSK2	22	19119545	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	92932	19119545	32185021	4716	21172										
TSSK2	23617	hgsc.bcm.edu	37	chr22	19119686	19119686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgctgcagcccgacgtcagCcagcggctccacatcgatga	11	15	1	1	rs1052756	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19119686C>T	ENST00000399635.2	+	1	1366	c.774C>T	c.(772-774)agC>agT	p.S258S	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CCGACGTCAGCCAGCGGCTCC	0.627													C|||	778	0.155351	0.0938	0.1297	5008	,	,		19325	0.125		0.173	False		,,,				2504	0.2699				p.S258S		Atlas-SNP	.											.	TSSK2	29	.	0			c.C774T						PASS	.	C	,	381,4025	188.8+/-215.1	18,345,1840	70	60	63		,774	5.7	1	22	dbSNP_86	63	1589,7011	293.1+/-301.2	165,1259,2876	no	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	183,1604,4716	TT,TC,CC		18.4767,8.6473,15.1469	,	,258/359	19119686	1970,11036	2203	4300	6503	SO:0001819	synonymous_variant	23617	exon1			CGTCAGCCAGCGG	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.774C>T	22.37:g.19119686C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	104	43	0.413462	NM_053006	Q8IY55	Silent	SNP	ENST00000399635.2	37	CCDS13755.1																																																																																			C|0.851;A|0.001	.	strong		0.627	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			T	19119686	C	T	19119686	2	4	23	1	0	0	0	0	0	0	0	1	16666	738	26	2		2	TSSK2	22	19119686	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	141	19119686	32184880	4717	21173										
TSSK2	23617	hgsc.bcm.edu	37	chr22	19119938	19119938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctggccgagacctccagGgccaaagaccatcacatctc	10	15	2	2	rs1052773	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19119938G>A	ENST00000399635.2	+	1	1618	c.1026G>A	c.(1024-1026)agG>agA	p.R342R	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	342					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGACCTCCAGGGCCAAAGACC	0.632													G|||	1081	0.215855	0.2867	0.1527	5008	,	,		16419	0.1448		0.1809	False		,,,				2504	0.274				p.R342R		Atlas-SNP	.											.	TSSK2	29	.	0			c.G1026A						PASS	.	G	,	1081,3317		132,817,1250	36	37	37		,1026	2.2	0.2	22	dbSNP_86	37	1559,7015		173,1213,2901	no	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	305,2030,4151	AA,AG,GG		18.1829,24.5794,20.3515	,	,342/359	19119938	2640,10332	2199	4287	6486	SO:0001819	synonymous_variant	23617	exon1			CTCCAGGGCCAAA	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.1026G>A	22.37:g.19119938G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	45	44	0.977778	NM_053006	Q8IY55	Silent	SNP	ENST00000399635.2	37	CCDS13755.1																																																																																			A|0.201;C|0.006	0.201	strong		0.632	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			A	19119938	G	A	19119938	2	1	23	1	0	0	0	0	0	0	0	1	16666	1223	43	2		2	TSSK2	22	19119938	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	252	19119938	32184628	4718	21174										
DGCR14	8220	hgsc.bcm.edu	37	chr22	19122665	19122665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccatcttcagacccagccgCtccctgcggcctggctccag	10	19	2	1	rs2240111	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19122665C>T	ENST00000252137.6	-	9	1102	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	353					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACCCAGCCGCTCCCTGCGGC	0.647													C|||	832	0.166134	0.1203	0.1326	5008	,	,		15434	0.121		0.1869	False		,,,				2504	0.2771				p.E353E		Atlas-SNP	.											.	DGCR14	43	.	0			c.G1059A						PASS	.	C		513,3893	236.1+/-248.4	31,451,1721	68	61	64		1059	1.4	1	22	dbSNP_98	64	1729,6871	312.5+/-310.9	187,1355,2758	no	coding-synonymous	DGCR14	NM_022719.2		218,1806,4479	TT,TC,CC		20.1047,11.6432,17.2382		353/477	19122665	2242,10764	2203	4300	6503	SO:0001819	synonymous_variant	8220	exon9			CAGCCGCTCCCTG	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1059G>A	22.37:g.19122665C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	168	103	0.613095	NM_022719	Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	CCDS13756.1																																																																																			C|0.835;A|0.001	.	strong		0.647	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			T	19122665	C	T	19122665	2	4	23	1	0	0	0	0	0	0	0	1	4460	796	28	2		2	DGCR14	22	19122665	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2727	19122665	32181901	4719	21175										
CLTCL1	8218	hgsc.bcm.edu	37	chr22	19175095	19175095	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagatgatccttcttgcagAgctccacgctctgggcccac	10	14	2	3	rs182434700	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19175095A>C	ENST00000263200.10	-	29	4652	c.4580T>G	c.(4579-4581)cTc>cGc	p.L1527R	CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1527R|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1527	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTTCTTGCAGAGCTCCACGCT	0.572			T	?	ALCL								A|||	5	0.000998403	0.0038	0.0	5008	,	,		20542	0.0		0.0	False		,,,				2504	0.0				p.L1527R		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1	115	.	0			c.T4580G						PASS	.	A	ARG/LEU,	6,4150		0,6,2072	102	110	107		4580,	4.1	1	22		107	2,8418		0,2,4208	yes	missense,intron	CLTCL1	NM_007098.3,NM_001835.3	102,	0,8,6280	CC,CA,AA		0.0238,0.1444,0.0636	probably-damaging,	1527/1641,	19175095	8,12568	2078	4210	6288	SO:0001583	missense	8218	exon29			TTGCAGAGCTCCA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4580T>G	22.37:g.19175095A>C	ENSP00000445677:p.Leu1527Arg	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	185	90	0.486486	NM_007098	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	23.2	4.381943	0.82792	0.001444	2.38E-4	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.29917	1.55;1.55	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000002	T	0.62392	0.2424	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72434	-0.4295	10	0.87932	D	0	-15.1854	13.2908	0.60270	1.0:0.0:0.0:0.0	.	1527	P53675	CLH2_HUMAN	R	1527	ENSP00000445677:L1527R;ENSP00000441158:L1527R	ENSP00000445677:L1527R	L	-	2	0	CLTCL1	17555095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.286000	0.89916	1.738000	0.51689	0.533000	0.62120	CTC	A|0.999;C|0.001	0.001	strong		0.572	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		C	19175095	A	C	19175095	3	2	23	1	0	0	0	0	1	0	0	0	3567	304	11	5	358	5	CLTCL1	22	19175095	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	52430	19175095	32129471	4720	21176										
CLTCL1	8218	hgsc.bcm.edu	37	chr22	19175133	19175133	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccagttattgcccttgtaCagataggccgcaatgcacct	8	13	0	1	rs187075533	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:19175133C>A	ENST00000263200.10	-	29	4614	c.4542G>T	c.(4540-4542)ctG>ctT	p.L1514L	CLTCL1_ENST00000427926.1_Silent_p.L1514L|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1514	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGCCCTTGTACAGATAGGCCG	0.552			T	?	ALCL								C|||	5	0.000998403	0.0038	0.0	5008	,	,		22029	0.0		0.0	False		,,,				2504	0.0				p.L1514L		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1	115	.	0			c.G4542T						PASS	.	C	,	6,4122		0,6,2058	103	106	105		,4542	0.4	0.8	22		105	2,8402		0,2,4200	no	intron,coding-synonymous	CLTCL1	NM_001835.3,NM_007098.3	,	0,8,6258	AA,AC,CC		0.0238,0.1453,0.0638	,	,1514/1641	19175133	8,12524	2064	4202	6266	SO:0001819	synonymous_variant	8218	exon29			CTTGTACAGATAG		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4542G>T	22.37:g.19175133C>A		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	215	108	0.502326	NM_007098	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																			C|0.999;A|0.001	0.001	strong		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19175133	C	A	19175133	2	1	23	1	0	0	0	0	0	0	0	1	3567	465	17	4		4	CLTCL1	22	19175133	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	38	19175133	32129433	4721	21177										
DGCR6L	85359	hgsc.bcm.edu	37	chr22	20307256	20307256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccctgcacgatttcgaacacGgtgccgtcgagaagcgccag	12	14	0	1	rs7235	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:20307256G>A	ENST00000248879.3	-	2	268	c.177C>T	c.(175-177)acC>acT	p.T59T	DGCR6L_ENST00000405465.3_Missense_Mutation_p.P55L|XXbac-B444P24.13_ENST00000608275.1_RNA|XXbac-B444P24.14_ENST00000609632.1_lincRNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	59						nucleus (GO:0005634)		p.T59T(1)		endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					TTTCGAACACGGTGCCGTCGA	0.667													.|||	1198	0.239217	0.1271	0.2205	5008	,	,		14674	0.1766		0.4314	False		,,,				2504	0.271				p.T59T		Atlas-SNP	.											DGCR6L,NS,carcinoma,0,1	DGCR6L	9	1	1	Substitution - coding silent(1)	stomach(1)	c.C177T						scavenged	.	G		717,3689	281.4+/-275.9	69,579,1555	32	29	30		177	-2.3	1	22	dbSNP_52	30	3774,4824	507.0+/-376.7	825,2124,1350	no	coding-synonymous	DGCR6L	NM_033257.3		894,2703,2905	AA,AG,GG		43.8939,16.2733,34.5355		59/221	20307256	4491,8513	2203	4299	6502	SO:0001819	synonymous_variant	85359	exon2			GAACACGGTGCCG	AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.177C>T	22.37:g.20307256G>A		Somatic	320	2	0.00625		WXS	Illumina HiSeq	Phase_I	291	129	0.443299	NM_033257	A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	ENST00000248879.3	37	CCDS13778.1	579	0.2651098901098901	53	0.10772357723577236	83	0.2292817679558011	108	0.1888111888111888	335	0.4419525065963061	G	1.110	-0.658346	0.03454	0.162733	0.438939	ENSG00000128185	ENST00000405465	T	0.35789	1.29	1.83	-2.34	0.06704	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.41946	P	0.009368000000000043	.	.	.	.	.	.	T	0.40553	-0.9557	5	0.02654	T	1	-24.4417	6.2719	0.20959	0.151:0.6029:0.2461:0.0	rs7235;rs1056851;rs3197470;rs13058126;rs17349310	.	.	.	L	55	ENSP00000386052:P55L	ENSP00000386052:P55L	P	-	2	0	DGCR6L	18687256	0.019000	0.18553	0.989000	0.46669	0.808000	0.45660	-1.230000	0.02942	-0.496000	0.06650	0.306000	0.20318	CCG	G|0.703;A|0.297	0.297	strong		0.667	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318970.3	NM_033257		A	20307256	G	A	20307256	2	1	23	1	0	0	0	0	0	0	0	1	4463	1103	39	1		1	DGCR6L	22	20307256	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1132123	20307256	30997310	4722	21178										
PI4KA	5297	hgsc.bcm.edu	37	chr22	21066789	21066789	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctacctgctggaaggccagAgtggactcatccccgtactg	12	13	1	1	rs5996654	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:21066789A>G	ENST00000572273.1	-	50	5843	c.5613T>C	c.(5611-5613)acT>acC	p.T1871T	PI4KA_ENST00000255882.6_Silent_p.T1929T|PI4KA_ENST00000414196.3_Silent_p.T681T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1871	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.T1871T(1)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAAGGCCAGAGTGGACTCAT	0.662																																					p.T1929T	GBM(136;1332 1831 3115 23601 50806)	Atlas-SNP	.											PI4KA_ENST00000255882,NS,carcinoma,0,1	PI4KA	313	1	1	Substitution - coding silent(1)	stomach(1)	c.T5787C						scavenged	.						23	25	24					22																	21066789		2198	4284	6482	SO:0001819	synonymous_variant	5297	exon50			GGCCAGAGTGGAC	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5613T>C	22.37:g.21066789A>G		Somatic	412	3	0.00728155		WXS	Illumina HiSeq	Phase_I	359	138	0.384401	NM_058004	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																				A|0.618;G|0.382	0.382	strong		0.662	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		G	21066789	A	G	21066789	2	3	23	1	0	0	0	0	0	0	0	1	11873	291	11	3		3	PI4KA	22	21066789	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	759533	21066789	30237777	4723	21179										
PI4KA	5297	hgsc.bcm.edu	37	chr22	21066897	21066897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gggatgcactcgatcaccccGcactaggaggaaaggccagt	13	12	1	0	rs1135929	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:21066897G>A	ENST00000572273.1	-	50	5735	c.5505C>T	c.(5503-5505)tgC>tgT	p.C1835C	PI4KA_ENST00000255882.6_Silent_p.C1893C|PI4KA_ENST00000414196.3_Silent_p.C645C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1835	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.C1835C(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGATCACCCCGCACTAGGAGG	0.652													g|||	2170	0.433307	0.5083	0.4683	5008	,	,		12263	0.4752		0.3976	False		,,,				2504	0.3006				p.C1893C	GBM(136;1332 1831 3115 23601 50806)	Atlas-SNP	.											PI4KA_ENST00000255882,NS,carcinoma,0,2	PI4KA	313	2	2	Substitution - coding silent(2)	stomach(2)	c.C5679T						scavenged	.						20	24	23					22																	21066897		2111	4203	6314	SO:0001819	synonymous_variant	5297	exon50			CACCCCGCACTAG	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5505C>T	22.37:g.21066897G>A		Somatic	432	1	0.00231481		WXS	Illumina HiSeq	Phase_I	285	56	0.196491	NM_058004	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																				A|1.000;|0.000	1.000	weak		0.652	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21066897	G	A	21066897	2	1	23	1	0	0	0	0	0	0	0	1	11873	1079	38	1		1	PI4KA	22	21066897	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	108	21066897	30237669	4724	21180										
AIFM3	150209	hgsc.bcm.edu	37	chr22	21330787	21330787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatcgcgtggtgaggctggcCcgaggccgcaacgtggtcgt	17	11	0	1	rs7285694	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:21330787C>T	ENST00000399167.2	+	11	1230	c.990C>T	c.(988-990)gcC>gcT	p.A330A	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.A330A|AIFM3_ENST00000335375.5_Silent_p.A318A|AIFM3_ENST00000399163.2_Silent_p.A330A|AIFM3_ENST00000405089.1_Silent_p.A336A|AIFM3_ENST00000440238.2_Silent_p.A330A	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	330					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGAGGCTGGCCCGAGGCCGCA	0.612													C|||	958	0.191294	0.1959	0.1888	5008	,	,		19537	0.1062		0.2992	False		,,,				2504	0.1636				p.A336A		Atlas-SNP	.											.	AIFM3	49	.	0			c.C1008T						PASS	.	C	,,	877,3529	336.0+/-304.2	92,693,1418	74	52	59		990,1008,990	3.7	1	22	dbSNP_116	59	2657,5943	421.7+/-353.8	450,1757,2093	no	coding-synonymous,coding-synonymous,coding-synonymous	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	,,	542,2450,3511	TT,TC,CC		30.8953,19.9047,27.1721	,,	330/599,336/605,330/606	21330787	3534,9472	2203	4300	6503	SO:0001819	synonymous_variant	150209	exon11			GCTGGCCCGAGGC	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.990C>T	22.37:g.21330787C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	57	27	0.473684	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	CCDS13786.1																																																																																			C|0.743;T|0.257	0.257	strong		0.612	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21330787	C	T	21330787	2	4	23	1	0	0	0	0	0	0	0	1	428	610	22	2		2	AIFM3	22	21330787	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	263890	21330787	29973779	4725	21181										
PPM1F	9647	hgsc.bcm.edu	37	chr22	22287862	22287862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctctggctggcgggcagcGttggtgtgcacgtggacagc	18	10	1	0	rs2027789	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:22287862G>A	ENST00000263212.5	-	5	753	c.648C>T	c.(646-648)aaC>aaT	p.N216N	PPM1F_ENST00000407142.1_Silent_p.N48N|PPM1F_ENST00000397495.4_Silent_p.N216N|PPM1F_ENST00000538191.1_Silent_p.N112N	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	216					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGCGGGCAGCGTTGGTGTGCA	0.632													G|||	1237	0.247005	0.2874	0.2939	5008	,	,		17553	0.0863		0.4006	False		,,,				2504	0.1667				p.N216N		Atlas-SNP	.											.	PPM1F	34	.	0			c.C648T						PASS	.	G		1232,3174	425.1+/-340.7	161,910,1132	69	59	63		648	-8.1	0	22	dbSNP_94	63	3386,5214	501.0+/-375.3	671,2044,1585	no	coding-synonymous	PPM1F	NM_014634.3		832,2954,2717	AA,AG,GG		39.3721,27.9619,35.5067		216/455	22287862	4618,8388	2203	4300	6503	SO:0001819	synonymous_variant	9647	exon5			GGCAGCGTTGGTG	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.648C>T	22.37:g.22287862G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	80	29	0.3625	NM_014634	A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	CCDS13796.1																																																																																			G|0.665;A|0.335	0.335	strong		0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		A	22287862	G	A	22287862	2	1	23	1	0	0	0	0	0	0	0	1	12339	1136	40	1		1	PPM1F	22	22287862	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	957075	22287862	29016704	4726	21182										
PPM1F	9647	hgsc.bcm.edu	37	chr22	22288560	22288560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccggcgacttcccaaaggcGgttaaagaaactctgtgcca	11	12	1	1	rs9610645	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:22288560G>A	ENST00000263212.5	-	4	499	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	PPM1F_ENST00000407142.1_5'UTR|PPM1F_ENST00000397495.4_Missense_Mutation_p.R132C|PPM1F_ENST00000486259.1_5'Flank|PPM1F_ENST00000538191.1_Missense_Mutation_p.R28C	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	132			R -> C (in dbSNP:rs9610645).		cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TCCCAAAGGCGGTTAAAGAAA	0.617													G|||	430	0.0858626	0.0893	0.1081	5008	,	,		16993	0.0655		0.1223	False		,,,				2504	0.0491				p.R132C		Atlas-SNP	.											PPM1F,colon,carcinoma,0,1	PPM1F	34	1	0			c.C394T						PASS	.	G	CYS/ARG	305,4085		14,277,1904	23	26	25		394	0.3	0.6	22	dbSNP_119	25	1017,7559		65,887,3336	yes	missense	PPM1F	NM_014634.3	180	79,1164,5240	AA,AG,GG		11.8587,6.9476,10.1959	benign	132/455	22288560	1322,11644	2195	4288	6483	SO:0001583	missense	9647	exon4			AAAGGCGGTTAAA	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.394C>T	22.37:g.22288560G>A	ENSP00000263212:p.Arg132Cys	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	67	39	0.58209	NM_014634	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	213	0.09752747252747253	48	0.0975609756097561	35	0.09668508287292818	33	0.057692307692307696	97	0.1279683377308707	G	9.196	1.027297	0.19512	0.069476	0.118587	ENSG00000100034	ENST00000263212;ENST00000538191;ENST00000397495;ENST00000424647	T;T;T;T	0.46063	2.5;2.48;1.91;0.88	4.99	0.283	0.15696	.	2.592250	0.00954	N	0.003003	T	0.00241	0.0007	N	0.11560	0.145	0.49213	P	2.3700000000004273E-4	B;B;B	0.15719	0.003;0.014;0.007	B;B;B	0.11329	0.002;0.006;0.004	T	0.15009	-1.0452	9	0.37606	T	0.19	-27.6717	1.284	0.02046	0.1791:0.1235:0.2848:0.4126	rs9610645;rs52834056;rs9610645	28;132;132	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	C	132;28;132;28	ENSP00000263212:R132C;ENSP00000439915:R28C;ENSP00000380632:R132C;ENSP00000388350:R28C	ENSP00000263212:R132C	R	-	1	0	PPM1F	20618560	0.148000	0.22702	0.592000	0.28758	0.353000	0.29299	0.430000	0.21428	0.645000	0.30675	0.555000	0.69702	CGC	G|0.900;A|0.100	0.100	strong		0.617	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		A	22288560	G	A	22288560	3	1	23	1	0	0	0	0	1	0	0	0	12339	1116	39	1	990	1	PPM1F	22	22288560	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	698	22288560	29016006	4727	21183										
TOP3B	8940	hgsc.bcm.edu	37	chr22	22318538	22318538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccggctccactcaccgtgtCggcccagtaggggtggttgg	15	14	1	0	rs9610728	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:22318538C>T	ENST00000398793.2	-	10	1527	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	TOP3B_ENST00000413067.2_Missense_Mutation_p.D94N|TOP3B_ENST00000357179.5_Missense_Mutation_p.D365N	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	365			D -> N (in dbSNP:rs9610728). {ECO:0000269|PubMed:15489334}.		chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTCACCGTGTCGGCCCAGTAG	0.632													C|||	490	0.0978435	0.1362	0.1095	5008	,	,		17067	0.0665		0.1183	False		,,,				2504	0.0491				p.D365N		Atlas-SNP	.											.	TOP3B	107	.	0			c.G1093A						PASS	.	C	ASN/ASP	510,3896	234.2+/-247.1	33,444,1726	89	78	82		1093	2.8	0.9	22	dbSNP_119	82	1060,7540	223.4+/-260.2	74,912,3314	yes	missense	TOP3B	NM_003935.3	23	107,1356,5040	TT,TC,CC		12.3256,11.5751,12.0714	benign	365/863	22318538	1570,11436	2203	4300	6503	SO:0001583	missense	8940	exon10			CCGTGTCGGCCCA	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1093G>A	22.37:g.22318538C>T	ENSP00000381773:p.Asp365Asn	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	228	124	0.54386	NM_003935	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	234	0.10714285714285714	66	0.13414634146341464	37	0.10220994475138122	36	0.06293706293706294	95	0.12532981530343007	C	10.84	1.463748	0.26335	0.115751	0.123256	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.21543	2.0;2.0;2.0	5.05	2.85	0.33270	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.198902	0.52532	N	0.000074	T	0.00144	0.0004	L	0.35249	1.045	0.21950	P	0.999456333	B;B	0.14805	0.011;0.009	B;B	0.11329	0.006;0.005	T	0.18745	-1.0327	9	0.21540	T	0.41	.	12.1463	0.54026	0.0:0.7954:0.1308:0.0737	rs9610728;rs17849583;rs9610728	365;365	O95985;O95985-2	TOP3B_HUMAN;.	N	365;365;94	ENSP00000349705:D365N;ENSP00000381773:D365N;ENSP00000393118:D94N	ENSP00000349705:D365N	D	-	1	0	TOP3B	20648538	0.990000	0.36364	0.947000	0.38551	0.094000	0.18550	2.847000	0.48270	1.359000	0.45940	-0.291000	0.09656	GAC	C|0.880;T|0.120	0.120	strong		0.632	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		T	22318538	C	T	22318538	3	4	23	1	0	0	0	0	1	0	0	0	16365	884	31	1	1531	1	TOP3B	22	22318538	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	29978	22318538	28986028	4728	21184										
TOP3B	8940	hgsc.bcm.edu	37	chr22	22318671	22318671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgctcagccgtctgcatggcGtgctgcggccccatgcctgc	13	17	2	0	rs9610729	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:22318671G>A	ENST00000398793.2	-	10	1394	c.960C>T	c.(958-960)caC>caT	p.H320H	TOP3B_ENST00000413067.2_Silent_p.H49H|TOP3B_ENST00000357179.5_Silent_p.H320H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	320					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCTGCATGGCGTGCTGCGGCC	0.637													G|||	420	0.0838658	0.087	0.1037	5008	,	,		19731	0.0655		0.1183	False		,,,				2504	0.0491				p.H320H		Atlas-SNP	.											.	TOP3B	107	.	0			c.C960T						PASS	.	G		332,4074	175.1+/-204.6	14,304,1885	124	96	105		960	-0.2	1	22	dbSNP_119	105	1057,7543	223.3+/-260.1	74,909,3317	no	coding-synonymous	TOP3B	NM_003935.3		88,1213,5202	AA,AG,GG		12.2907,7.5352,10.6797		320/863	22318671	1389,11617	2203	4300	6503	SO:0001819	synonymous_variant	8940	exon10			CATGGCGTGCTGC	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.960C>T	22.37:g.22318671G>A		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	125	58	0.464	NM_003935	A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	CCDS13797.1	209	0.09569597069597069	46	0.09349593495934959	34	0.09392265193370165	34	0.05944055944055944	95	0.12532981530343007	G	9.153	1.016764	0.19355	0.075352	0.122907	ENSG00000100038	ENST00000457270	.	.	.	5.05	-0.173	0.13322	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.17745	-1.0359	3	.	.	.	.	9.575	0.39452	0.6689:0.0:0.3311:0.0	rs9610729;rs17849582;rs9610729	.	.	.	M	115	.	.	T	-	2	0	TOP3B	20648671	0.648000	0.27313	0.998000	0.56505	0.905000	0.53344	-0.179000	0.09768	-0.107000	0.12088	-0.367000	0.07326	ACG	G|0.896;A|0.104	0.104	strong		0.637	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		A	22318671	G	A	22318671	2	1	23	1	0	0	0	0	0	0	0	1	16365	1136	40	1		1	TOP3B	22	22318671	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	133	22318671	28985895	4729	21185										
VPREB1	7441	hgsc.bcm.edu	37	chr22	22599674	22599674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgctatgggggcccgcagCtcggagaaggaggagaggga	20	7	0	2	rs5995719	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:22599674C>T	ENST00000403807.3	+	2	502	c.363C>T	c.(361-363)agC>agT	p.S121S	VPREB1_ENST00000302273.2_Silent_p.S120S			P12018	VPREB_HUMAN	pre-B lymphocyte 1	121	Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GGGCCCGCAGCTCggagaagg	0.572													c|||	798	0.159345	0.3094	0.1009	5008	,	,		16238	0.003		0.1759	False		,,,				2504	0.1421				p.S121S		Atlas-SNP	.											VPREB1,NS,carcinoma,+1,1	VPREB1	20	1	0			c.C363T						scavenged	.	C		1327,3059		210,907,1076	15	17	16		363	3.3	0	22	dbSNP_114	16	1647,6935		157,1333,2801	yes	coding-synonymous	VPREB1	NM_007128.2		367,2240,3877	TT,TC,CC		19.1913,30.2554,22.9334		121/146	22599674	2974,9994	2193	4291	6484	SO:0001819	synonymous_variant	7441	exon2			CCGCAGCTCGGAG	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.363C>T	22.37:g.22599674C>T		Somatic	17	1	0.0588235		WXS	Illumina HiSeq	Phase_I	18	16	0.888889	NM_007128	B5MCG2	Silent	SNP	ENST00000403807.3	37	CCDS13798.1																																																																																			C|0.808;T|0.192	0.192	strong		0.572	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			T	22599674	C	T	22599674	2	4	23	1	0	0	0	0	0	0	0	1	17183	796	28	2		2	VPREB1	22	22599674	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	281003	22599674	28704892	4730	21186										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230408	23230408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctggagcctcagttggaagcAgccgatccagcctgcggagc	14	13	1	0	rs552295669		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:23230408A>C	ENST00000526893.1	+	1	449	c.175A>C	c.(175-177)Agc>Cgc	p.S59R	IGLL5_ENST00000532223.2_Missense_Mutation_p.S59R|IGLL5_ENST00000531372.1_Missense_Mutation_p.S59R|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	59						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGTTGGAAGCAGCCGATCCAG	0.657																																					p.S59R		Atlas-SNP	.											.	IGLL5	26	.	0			c.A175C						PASS	.																																			SO:0001583	missense	100423062	exon1			GGAAGCAGCCGAT	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.175A>C	22.37:g.23230408A>C	ENSP00000431254:p.Ser59Arg	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	145	38	0.262069	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848880	0.32699	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00593	6.34;6.35	3.92	-0.722	0.11184	.	.	.	.	.	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.45175	-0.9279	9	0.72032	D	0.01	.	3.8729	0.09044	0.4764:0.1955:0.3281:0.0	.	59	B9A064	IGLL5_HUMAN	R	59	ENSP00000436353:S59R;ENSP00000431254:S59R	ENSP00000431254:S59R	S	+	1	0	IGLL5	21560408	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.203000	0.17315	-0.212000	0.10109	0.523000	0.50628	AGC	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230408	A	C	23230408	3	2	23	1	0	0	0	0	1	0	0	0	7594	188	7	5	177	5	IGLL5	22	23230408	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	630734	23230408	28074158	4731	21187										
DERL3	91319	hgsc.bcm.edu	37	chr22	24179922	24179922	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caaggcaggaacggtgcctgGaaagtgagcaggccgaagaa	16	8	0	2	rs3177243	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:24179922G>C	ENST00000318109.7	-	5	463	c.447C>G	c.(445-447)ttC>ttG	p.F149L	DERL3_ENST00000406855.3_Missense_Mutation_p.F149L|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Missense_Mutation_p.F149L|DERL3_ENST00000404056.1_Intron			Q96Q80	DERL3_HUMAN	derlin 3	149			F -> L (in dbSNP:rs3177243). {ECO:0000269|Ref.2}.		endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.F149L(1)		ovary(1)|prostate(1)|skin(1)	3						ACGGTGCCTGGAAAGTGAGCA	0.642													G|||	638	0.127396	0.2648	0.1427	5008	,	,		19663	0.0159		0.1431	False		,,,				2504	0.0297				p.F149L		Atlas-SNP	.											DERL3,NS,carcinoma,0,1	DERL3	14	1	1	Substitution - Missense(1)	prostate(1)	c.C447G						scavenged	.	G	LEU/PHE,LEU/PHE,LEU/PHE	1124,3282	391.2+/-328.0	149,826,1228	53	54	54		447,447,447	5.3	1	22	dbSNP_105	54	1367,7233	262.5+/-284.5	103,1161,3036	yes	missense,missense,missense	DERL3	NM_001002862.2,NM_001135751.1,NM_198440.3	22,22,22	252,1987,4264	CC,CG,GG		15.8953,25.5107,19.1527	benign,benign,benign	149/236,149/240,149/206	24179922	2491,10515	2203	4300	6503	SO:0001583	missense	91319	exon5			TGCCTGGAAAGTG	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.447C>G	22.37:g.24179922G>C	ENSP00000315303:p.Phe149Leu	Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	145	66	0.455172	NM_001135751	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	CCDS33615.1	320	0.14652014652014653	139	0.28252032520325204	54	0.14917127071823205	10	0.017482517482517484	117	0.15435356200527706	G	21.5	4.152228	0.78001	0.255107	0.158953	ENSG00000099958	ENST00000406855;ENST00000318109;ENST00000476077	T;T;T	0.30182	1.54;1.54;1.54	5.27	5.27	0.74061	.	0.109923	0.64402	D	0.000007	T	0.00012	0.0000	M	0.75150	2.29	0.09310	P	0.99999999891888	B;B	0.31581	0.058;0.329	B;B	0.37304	0.105;0.246	T	0.10543	-1.0625	9	0.56958	D	0.05	.	18.3218	0.90241	0.0:0.0:1.0:0.0	rs3177243;rs60204233	149;149	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	L	149	ENSP00000384744:F149L;ENSP00000315303:F149L;ENSP00000419399:F149L	ENSP00000315303:F149L	F	-	3	2	DERL3	22509922	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.908000	0.56355	2.655000	0.90218	0.558000	0.71614	TTC	G|0.825;C|0.175	0.175	strong		0.642	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		C	24179922	G	C	24179922	3	2	23	1	0	0	0	0	1	0	0	0	4448	1165	41	4	386	4	DERL3	22	24179922	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	949514	24179922	27124644	4732	21188										
CABIN1	23523	hgsc.bcm.edu	37	chr22	24567795	24567795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccagctgactctgtccagCggcccagtgatgctcacacc	10	16	2	2	rs145513360	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:24567795C>T	ENST00000398319.2	+	34	6257	c.5872C>T	c.(5872-5874)Cgg>Tgg	p.R1958W	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1879W|CABIN1_ENST00000337989.7_Missense_Mutation_p.R383W|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1958W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1958					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTCTGTCCAGCGGCCCAGTGA	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		19053	0.0		0.003	False		,,,				2504	0.0				p.R1958W		Atlas-SNP	.											.	CABIN1	153	.	0			c.C5872T						PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	123	115	118		5872,5722,5872	2.7	0.9	22	dbSNP_134	118	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	101,101,101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	1958/2221,1908/2171,1958/2221	24567795	4,13002	2203	4300	6503	SO:0001583	missense	23523	exon34			GTCCAGCGGCCCA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5872C>T	22.37:g.24567795C>T	ENSP00000381364:p.Arg1958Trp	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	160	94	0.5875	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.75	3.465698	0.63513	0.0	4.65E-4	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.9	2.7	0.31948	.	0.150708	0.43110	D	0.000609	T	0.30008	0.0751	N	0.24115	0.695	0.39027	D	0.959857	D;D	0.89917	0.999;1.0	P;D	0.79784	0.9;0.993	T	0.12192	-1.0557	10	0.72032	D	0.01	.	12.406	0.55441	0.3019:0.698:0.0:0.0	.	1879;1958	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	W	1958;1879;1958;383;382	ENSP00000263119:R1958W;ENSP00000384694:R1879W;ENSP00000381364:R1958W;ENSP00000336991:R383W	ENSP00000263119:R1958W	R	+	1	2	CABIN1	22897795	0.011000	0.17503	0.915000	0.36163	0.505000	0.33919	0.127000	0.15790	0.689000	0.31550	0.650000	0.86243	CGG	C|0.999;T|0.001	0.001	strong		0.607	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24567795	C	T	24567795	3	4	23	1	0	0	0	0	1	0	0	0	2528	759	27	1	6002	1	CABIN1	22	24567795	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	387873	24567795	26736771	4733	21189										
GGT5	2687	hgsc.bcm.edu	37	chr22	24628928	24628928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccagggcaggcggccatgGcggcggtgggcctcggcata	19	13	0	0	rs762276	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:24628928G>A	ENST00000327365.4	-	4	875	c.459C>T	c.(457-459)cgC>cgT	p.R153R	GGT5_ENST00000263112.7_Silent_p.R121R|GGT5_ENST00000418439.2_Missense_Mutation_p.P78S|GGT5_ENST00000398292.3_Silent_p.R153R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	153					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGCGGCCATGGCGGCGGTGGG	0.701													G|||	639	0.127596	0.0197	0.1888	5008	,	,		13019	0.1746		0.1571	False		,,,				2504	0.1513				p.R153R		Atlas-SNP	.											.	GGT5	61	.	0			c.C459T						PASS	.	G	,,	213,4145		9,195,1975	18	21	20		459,363,459	2.4	1	22	dbSNP_86	20	1070,7426		54,962,3232	no	coding-synonymous,coding-synonymous,coding-synonymous	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	,,	63,1157,5207	AA,AG,GG		12.5942,4.8876,9.9813	,,	153/588,121/555,153/587	24628928	1283,11571	2179	4248	6427	SO:0001819	synonymous_variant	2687	exon4			GCCATGGCGGCGG	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.459C>T	22.37:g.24628928G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	41	24	0.585366	NM_001099781	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	CCDS13825.1	294	0.1346153846153846	12	0.024390243902439025	68	0.1878453038674033	103	0.18006993006993008	111	0.14643799472295516	G	15.59	2.879364	0.51801	0.048876	0.125942	ENSG00000099998	ENST00000418439	T	0.19938	2.11	4.51	2.36	0.29203	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.45806	P	0.0013119999999999798	B	0.14438	0.01	B	0.10450	0.005	T	0.24368	-1.0162	7	0.72032	D	0.01	-40.7365	3.3668	0.07206	0.0949:0.1713:0.557:0.1767	rs762276	78	E7EUG3	.	S	78	ENSP00000392146:P78S	ENSP00000392146:P78S	P	-	1	0	GGT5	22958928	0.009000	0.17119	1.000000	0.80357	0.947000	0.59692	-0.683000	0.05179	0.627000	0.30340	0.585000	0.79938	CCA	G|0.864;A|0.136	0.136	strong		0.701	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		A	24628928	G	A	24628928	2	1	23	1	0	0	0	0	0	0	0	1	6362	1190	42	2		2	GGT5	22	24628928	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	61133	24628928	26675638	4734	21190										
CYTSA	23384	hgsc.bcm.edu	37	chr22	24717518	24717518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaagtgaaggatcttctcacGctggcaaaaaccaaagacgt	9	9	2	2	rs3747113	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:24717518G>A	ENST00000314328.9	+	5	855	c.570G>A	c.(568-570)acG>acA	p.T190T	SPECC1L_ENST00000541492.1_Silent_p.T190T|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.T190T|SPECC1L_ENST00000437398.1_Silent_p.T190T|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	190			T -> M (no effect on the stabilization of microtubules; dbSNP:rs142144652). {ECO:0000269|PubMed:21703590}.		actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.T190T(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						ATCTTCTCACGCTGGCAAAAA	0.453													G|||	1037	0.207069	0.1127	0.317	5008	,	,		20502	0.2302		0.2654	False		,,,				2504	0.1728				p.T190T		Atlas-SNP	.											SPECC1L,NS,carcinoma,0,1	SPECC1L	85	1	1	Substitution - coding silent(1)	stomach(1)	c.G570A						PASS	.	G	,	603,3803	263.8+/-265.7	40,523,1640	62	61	62		570,570	-8.3	0.5	22	dbSNP_107	62	2172,6428	372.6+/-336.7	292,1588,2420	no	coding-synonymous,coding-synonymous	SPECC1L	NM_001145468.1,NM_015330.2	,	332,2111,4060	AA,AG,GG		25.2558,13.6859,21.3363	,	190/1118,190/1118	24717518	2775,10231	2203	4300	6503	SO:0001819	synonymous_variant	23384	exon4			TCTCACGCTGGCA	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.570G>A	22.37:g.24717518G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	61	34	0.557377	NM_001145468	B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	CCDS33619.1																																																																																			G|0.777;A|0.223	0.223	strong		0.453	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		A	24717518	G	A	24717518	2	1	23	1	0	0	0	0	0	0	0	1	4209	1074	38	1		1	CYTSA	22	24717518	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	88590	24717518	26587048	4735	21191										
GGT1	2678	hgsc.bcm.edu	37	chr22	25023444	25023444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcgctgcccagctccggGcccagatctctgacgacacc	9	18	2	2	rs201546887	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:25023444G>T	ENST00000400382.1	+	12	1821	c.1066G>T	c.(1066-1068)Gcc>Tcc	p.A356S	GGT1_ENST00000400383.1_Missense_Mutation_p.A356S|GGT1_ENST00000401885.1_Missense_Mutation_p.A12S|GGT1_ENST00000406383.2_Missense_Mutation_p.A356S|GGT1_ENST00000404532.1_Missense_Mutation_p.A12S|GGT1_ENST00000248923.4_Missense_Mutation_p.A356S|GGT1_ENST00000403838.1_Missense_Mutation_p.A12S|GGT1_ENST00000400380.1_Missense_Mutation_p.A356S|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Missense_Mutation_p.A12S|GGT1_ENST00000404920.1_Missense_Mutation_p.A12S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	356				A -> S (in Ref. 10; AAI28240). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.A356S(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCAGCTCCGGGCCCAGATCTC	0.652													g|||	27	0.00539137	0.0023	0.0058	5008	,	,		10309	0.0		0.0109	False		,,,				2504	0.0092				p.A356S		Atlas-SNP	.											GGT1,NS,carcinoma,0,1	GGT1	68	1	1	Substitution - Missense(1)	prostate(1)	c.G1066T						scavenged	.						45	46	45					22																	25023444		2201	4297	6498	SO:0001583	missense	2678	exon12			CTCCGGGCCCAGA	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1066G>T	22.37:g.25023444G>T	ENSP00000383232:p.Ala356Ser	Somatic	350	0	0		WXS	Illumina HiSeq	Phase_I	380	45	0.118421	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	0.717	-0.784921	0.02907	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23	3.4	2.37	0.29283	.	0.683912	0.14246	N	0.331733	T	0.03695	0.0105	N	0.16066	0.365	0.21527	N	0.999659	B	0.02656	0.0	B	0.09377	0.004	T	0.45789	-0.9237	10	0.09084	T	0.74	-4.876	3.5096	0.07703	0.2536:0.2162:0.5302:0.0	.	356	P19440	GGT1_HUMAN	S	356;356;356;356;356;356;12;12;12;12;12	ENSP00000248923:A356S;ENSP00000393537:A356S;ENSP00000383232:A356S;ENSP00000383233:A356S;ENSP00000383231:A356S;ENSP00000385975:A356S;ENSP00000384381:A12S;ENSP00000385445:A12S;ENSP00000384820:A12S;ENSP00000385016:A12S;ENSP00000385001:A12S	ENSP00000248923:A356S	A	+	1	0	GGT1	23353444	0.490000	0.26012	0.009000	0.14445	0.418000	0.31294	1.292000	0.33342	0.762000	0.33152	0.298000	0.19748	GCC	.	.	weak		0.652	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		T	25023444	G	T	25023444	3	4	23	1	0	0	0	0	1	0	0	0	6361	1203	42	4	1096	4	GGT1	22	25023444	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	305926	25023444	26281122	4736	21192										
CRYBB3	1417	hgsc.bcm.edu	37	chr22	25603052	25603052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccggctaccgtgggcgccAgtacgtgtttgagcggggcg	17	13	0	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:25603052A>G	ENST00000215855.2	+	6	589	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	170	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						CGTGGGCGCCAGTACGTGTTT	0.647																																					p.V170G		Atlas-SNP	.											.	CRYBB3	13	.	0			c.T509G						PASS	.						57	52	54					22																	25603052		2201	4300	6501	SO:0001583	missense	1417	exon6			GGCGCCAGTACGT		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.509A>G	22.37:g.25603052A>G	ENSP00000215855:p.Gln170Arg	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	127	51	0.401575	NM_004076	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816949	0.90790	.	.	ENSG00000100053	ENST00000215855	T	0.80123	-1.34	4.87	4.87	0.63330	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.92001	0.7466	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93900	0.7187	10	0.87932	D	0	.	13.2896	0.60264	1.0:0.0:0.0:0.0	.	170	P26998	CRBB3_HUMAN	R	170	ENSP00000215855:Q170R	ENSP00000215855:Q170R	Q	+	2	0	CRYBB3	23933052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.664000	0.91139	1.804000	0.52760	0.459000	0.35465	CAG	.	.	none		0.647	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		G	25603052	A	G	25603052	3	3	23	1	0	0	0	0	1	0	0	0	3912	188	7	3	527	3	CRYBB3	22	25603052	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	579608	25603052	25701514	4737	21193										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26164700	26164700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccaggccccaagcccaagggCccggcgagggggtgcgacca	16	16	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:26164700C>T	ENST00000407587.2	+	4	986	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	MYO18B_ENST00000335473.7_Missense_Mutation_p.P273S|MYO18B_ENST00000536101.1_Missense_Mutation_p.P273S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	273						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						AGCCCAAGGGCCCGGCGAGGG	0.627																																					p.P273S		Atlas-SNP	.											.	MYO18B	322	.	0			c.C817T						PASS	.						16	20	19					22																	26164700		1895	4089	5984	SO:0001583	missense	84700	exon4			CAAGGGCCCGGCG	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.817C>T	22.37:g.26164700C>T	ENSP00000386096:p.Pro273Ser	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	53	31	0.584906	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	c	11.33	1.607898	0.28623	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86366	-2.09;-2.09;-2.11	3.13	-3.41	0.04839	.	0.695036	0.11932	N	0.515636	T	0.74176	0.3682	L	0.27053	0.805	0.09310	N	1	B;B;B	0.28291	0.131;0.103;0.206	B;B;B	0.25291	0.018;0.059;0.04	T	0.63278	-0.6673	10	0.66056	D	0.02	.	5.8765	0.18832	0.0:0.3595:0.3875:0.253	.	273;273;273	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	S	273	ENSP00000441229:P273S;ENSP00000334563:P273S;ENSP00000386096:P273S	ENSP00000334563:P273S	P	+	1	0	MYO18B	24494700	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.514000	0.06298	-0.256000	0.09473	0.306000	0.20318	CCC	.	.	none		0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26164700	C	T	26164700	3	4	23	1	0	0	0	0	1	0	0	0	10066	739	26	2	827	2	MYO18B	22	26164700	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	561648	26164700	25139866	4738	21194										
SEZ6L	23544	hgsc.bcm.edu	37	chr22	26692986	26692986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagccccaccaacaccatcTccgtctacttccggaccttc	5	19	2	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:26692986T>C	ENST00000248933.6	+	4	1197	c.1102T>C	c.(1102-1104)Tcc>Ccc	p.S368P	SEZ6L_ENST00000529632.2_Missense_Mutation_p.S368P|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S141P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S368P|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S368P|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S141P|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S368P			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	368	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAACACCATCTCCGTCTACTT	0.622																																					p.S368P		Atlas-SNP	.											SEZ6L,scalp,malignant_melanoma,-1,1	SEZ6L	174	1	0			c.T1102C						scavenged	.						61	51	54					22																	26692986		2203	4300	6503	SO:0001583	missense	23544	exon4			ACCATCTCCGTCT	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1102T>C	22.37:g.26692986T>C	ENSP00000248933:p.Ser368Pro	Somatic	156	1	0.00641026		WXS	Illumina HiSeq	Phase_I	148	2	0.0135135	NM_001184777	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274230	0.80580	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.1	5.1	0.69264	CUB (5);	0.000000	0.52532	D	0.000073	T	0.71837	0.3387	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.998;0.999;0.998	T	0.70824	-0.4767	10	0.34782	T	0.22	.	14.0506	0.64734	0.0:0.0:0.0:1.0	.	368;368;141;368;368;368;368	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	P	368;368;368;368;368;141;141	ENSP00000384772:S368P;ENSP00000437037:S368P;ENSP00000354185:S368P;ENSP00000248933:S368P;ENSP00000342661:S368P;ENSP00000384838:S141P;ENSP00000384733:S141P	ENSP00000248933:S368P	S	+	1	0	SEZ6L	25022986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.748000	0.68697	1.914000	0.55421	0.533000	0.62120	TCC	.	.	none		0.622	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			C	26692986	T	C	26692986	3	2	23	1	0	0	0	0	1	0	0	0	14143	1551	54	3	1116	3	SEZ6L	22	26692986	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	528286	26692986	24611580	4739	21195										
CHEK2	11200	hgsc.bcm.edu	37	chr22	29130458	29130458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaggggtaggctcctcaggTtcttggtcctcaggttcttg	14	10	4	0	rs1805129	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:29130458T>C	ENST00000405598.1	-	3	443	c.252A>G	c.(250-252)gaA>gaG	p.E84E	CHEK2_ENST00000328354.6_Silent_p.E84E|CHEK2_ENST00000382566.1_Silent_p.E84E|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382565.1_Silent_p.E84E|CHEK2_ENST00000403642.1_Silent_p.E84E|CHEK2_ENST00000348295.3_Silent_p.E84E|CHEK2_ENST00000382578.1_Silent_p.E84E|CHEK2_ENST00000404276.1_Silent_p.E84E|CHEK2_ENST00000382580.2_Silent_p.E84E|CHEK2_ENST00000402731.1_Silent_p.E84E			O96017	CHK2_HUMAN	checkpoint kinase 2	84					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.E84E(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GCTCCTCAGGTTCTTGGTCCT	0.512			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					T|||	214	0.0427316	0.0545	0.0144	5008	,	,		18034	0.0863		0.0169	False		,,,				2504	0.0286				p.E84E		Atlas-SNP	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	CHEK2,NS,carcinoma,0,1	CHEK2	438	1	1	Substitution - coding silent(1)	stomach(1)	c.A252G						PASS	.	T	,,	270,4136	150.3+/-184.3	8,254,1941	65	70	68		252,252,252	-0.8	1	22	dbSNP_89	68	237,8363	95.6+/-157.4	2,233,4065	no	coding-synonymous,coding-synonymous,coding-synonymous	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	,,	10,487,6006	CC,CT,TT		2.7558,6.128,3.8982	,,	84/587,84/544,84/515	29130458	507,12499	2203	4300	6503	SO:0001819	synonymous_variant	11200	exon2			CTCAGGTTCTTGG	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.252A>G	22.37:g.29130458T>C		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	51	18	0.352941	NM_145862	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	CCDS13843.1																																																																																			T|0.954;C|0.046	0.046	strong		0.512	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		C	29130458	T	C	29130458	2	2	23	1	0	0	0	0	0	0	0	1	3335	1722	60	2		2	CHEK2	22	29130458	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2437472	29130458	22174108	4740	21196										
AP1B1	162	hgsc.bcm.edu	37	chr22	29755888	29755888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcatcaagtagaggtatacTagcttcttcagctccaggtt	8	9	4	1	rs2072051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:29755888T>C	ENST00000405198.1	-	3	235	c.204A>G	c.(202-204)ctA>ctG	p.L68L	AP1B1_ENST00000356015.2_Silent_p.L68L|AP1B1_ENST00000402502.1_Silent_p.L68L|AP1B1_ENST00000432560.2_Silent_p.L68L|AP1B1_ENST00000357586.2_Silent_p.L68L|AP1B1_ENST00000317368.7_Silent_p.L68L|AP1B1_ENST00000415447.1_Silent_p.L68L			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	68					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGAGGTATACTAGCTTCTTCA	0.527											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3350	0.66893	0.8782	0.4481	5008	,	,		21958	0.7252		0.5726	False		,,,				2504	0.5838				p.L68L		Atlas-SNP	.											.	AP1B1	72	.	0			c.A204G						PASS	.	C	,,	3653,753	308.8+/-290.8	1512,629,62	137	116	123		204,204,204	2.8	1	22	dbSNP_96	123	4702,3898	545.4+/-384.8	1306,2090,904	no	coding-synonymous,coding-synonymous,coding-synonymous	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	,,	2818,2719,966	CC,CT,TT		45.3256,17.0903,35.7604	,,	68/950,68/920,68/940	29755888	8355,4651	2203	4300	6503	SO:0001819	synonymous_variant	162	exon4			GTATACTAGCTTC	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.204A>G	22.37:g.29755888T>C		Somatic	158	0	0	812	WXS	Illumina HiSeq	Phase_I	143	142	0.993007	NM_001127	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	CCDS13855.1																																																																																			T|0.337;C|0.663	0.663	strong		0.527	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		C	29755888	T	C	29755888	2	2	23	1	0	0	0	0	0	0	0	1	731	1509	53	3		3	AP1B1	22	29755888	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	625430	29755888	21548678	4741	21197										
THOC5	8563	hgsc.bcm.edu	37	chr22	29908072	29908072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttcaaacagagctggaaaaCaggtgggatggaggagtagc	16	5	1	1	rs1049534	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:29908072C>T	ENST00000490103.1	-	18	1857	c.1735G>A	c.(1735-1737)Gtt>Att	p.V579I	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.V579I|THOC5_ENST00000397871.1_Missense_Mutation_p.V579I|THOC5_ENST00000397872.1_Missense_Mutation_p.V579I	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	579			V -> I (in dbSNP:rs1049534). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8242058}.		blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTGGAAAACAGGTGGGATG	0.542													T|||	1112	0.222045	0.0983	0.1988	5008	,	,		21300	0.4167		0.2425	False		,,,				2504	0.184				p.V579I		Atlas-SNP	.											.	THOC5	58	.	0			c.G1735A						PASS	.	T	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	559,3847	774.1+/-414.0	35,489,1679	128	99	109		1735,1735,1735,1735	1.1	0.1	22	dbSNP_86	109	1957,6643	725.1+/-406.5	224,1509,2567	yes	missense,missense,missense,missense	THOC5	NM_001002877.1,NM_001002878.1,NM_001002879.1,NM_003678.4	29,29,29,29	259,1998,4246	TT,TC,CC		22.7558,12.6872,19.3449	benign,benign,benign,benign	579/684,579/684,579/684,579/684	29908072	2516,10490	2203	4300	6503	SO:0001583	missense	8563	exon19			GGAAAACAGGTGG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1735G>A	22.37:g.29908072C>T	ENSP00000420306:p.Val579Ile	Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	249	247	0.991968	NM_001002878	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	589	0.2696886446886447	58	0.11788617886178862	66	0.18232044198895028	273	0.4772727272727273	192	0.2532981530343008	T	0.010	-1.780653	0.00634	0.126872	0.227558	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	6.06	1.09	0.20402	.	0.352841	0.34338	N	0.004059	T	0.00012	0.0000	N	0.01188	-0.97	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.48007	-0.9072	9	0.18710	T	0.47	-21.0443	13.851	0.63496	0.0:0.467:0.0:0.533	rs1049534;rs17844989;rs17857748;rs52805826;rs58951214;rs1049534	579	Q13769	THOC5_HUMAN	I	579	ENSP00000420306:V579I;ENSP00000380970:V579I;ENSP00000380969:V579I;ENSP00000380971:V579I	ENSP00000380969:V579I	V	-	1	0	THOC5	28238072	0.001000	0.12720	0.139000	0.22197	0.186000	0.23388	-0.307000	0.08167	-0.692000	0.05128	-2.276000	0.00273	GTT	C|0.771;T|0.229	0.229	strong		0.542	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		T	29908072	C	T	29908072	3	4	23	1	0	0	0	0	1	0	0	0	15865	478	17	2	328	2	THOC5	22	29908072	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	152184	29908072	21396494	4742	21198										
SEC14L4	284904	hgsc.bcm.edu	37	chr22	30901592	30901592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctcaggtccccgactcggcTgctcatggtgcccgcgggcg	15	16	2	0	rs9608956	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:30901592T>C	ENST00000255858.7	-	1	90	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000540456.1_5'UTR|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S3G	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	3			S -> G (in dbSNP:rs9608956).			integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCGACTCGGCTGCTCATGGTG	0.736													C|||	1028	0.205272	0.2716	0.2997	5008	,	,		13779	0.0397		0.2545	False		,,,				2504	0.1687				p.S3G		Atlas-SNP	.											.	SEC14L4	43	.	0			c.A7G						PASS	.	C	GLY/SER,GLY/SER	1010,3322		147,716,1303	8	10	9		7,7	3.7	1	22	dbSNP_119	9	1922,6566		248,1426,2570	no	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	56,56	395,2142,3873	CC,CT,TT		22.6437,23.3149,22.8705	benign,benign	3/361,3/407	30901592	2932,9888	2166	4244	6410	SO:0001583	missense	284904	exon1			CTCGGCTGCTCAT	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.7A>G	22.37:g.30901592T>C	ENSP00000255858:p.Ser3Gly	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	27	24	0.888889	NM_001161368	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	449	0.20558608058608058	143	0.29065040650406504	90	0.24861878453038674	24	0.04195804195804196	192	0.2532981530343008	C	8.917	0.960179	0.18507	0.233149	0.226437	ENSG00000133488	ENST00000255858;ENST00000381982	T;T	0.26223	1.75;1.75	3.73	3.73	0.42828	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00006	-3.22	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	9	0.06365	T	0.9	0.1944	10.3272	0.43801	0.0:0.9033:0.0:0.0967	rs9608956;rs52821308;rs9608956	3	Q9UDX3	S14L4_HUMAN	G	3	ENSP00000255858:S3G;ENSP00000371412:S3G	ENSP00000255858:S3G	S	-	1	0	SEC14L4	29231592	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.927000	0.56499	1.167000	0.42706	-0.320000	0.08662	AGC	T|0.801;C|0.199	0.199	strong		0.736	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		C	30901592	T	C	30901592	3	2	23	1	0	0	0	0	1	0	0	0	13984	1580	55	3	1267	3	SEC14L4	22	30901592	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	993520	30901592	20402974	4743	21199										
SMTN	6525	hgsc.bcm.edu	37	chr22	31487146	31487146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acccctgcctcctcctccagCggctcctcctctcggggccc	8	23	1	0	rs143316150		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:31487146C>T	ENST00000347557.2	+	10	1355	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	SMTN_ENST00000333137.7_Silent_p.S379S|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000358743.1_Silent_p.S379S	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	379					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTCCTCCAGCGGCTCCTCCT	0.697																																					p.S435S		Atlas-SNP	.											SMTN_ENST00000404496,NS,carcinoma,0,3	SMTN	219	3	0			c.C1305T						scavenged	.	C	,,,,	0,4406		0,0,2203	31	36	35		1299,1305,1137,1137,1137	-6.1	0	22	dbSNP_134	35	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMTN	NM_001207017.1,NM_001207018.1,NM_006932.4,NM_134269.2,NM_134270.2	,,,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,,,	433/1003,435/972,379/918,379/916,379/941	31487146	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	6525	exon9			CTCCAGCGGCTCC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1137C>T	22.37:g.31487146C>T		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	208	4	0.0192308	NM_001207018	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	37	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	5.911	0.352092	0.11182	0.0	1.16E-4	ENSG00000183963	ENST00000329852	.	.	.	5.1	-6.13	0.02118	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.40627	-0.9553	5	0.72032	D	0.01	3.8243	0.8931	0.01258	0.1774:0.275:0.2592:0.2885	.	.	.	.	W	379	.	ENSP00000329393:R379W	R	+	1	2	SMTN	29817146	0.000000	0.05858	0.010000	0.14722	0.874000	0.50279	-0.802000	0.04545	-0.864000	0.04078	-0.658000	0.03865	CGG	C|1.000;T|0.000	0.000	weak		0.697	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		T	31487146	C	T	31487146	2	4	23	1	0	0	0	0	0	0	0	1	14814	767	27	1		1	SMTN	22	31487146	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	585554	31487146	19817420	4744	21200										
EIF4ENIF1	56478	hgsc.bcm.edu	37	chr22	31838085	31838085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgatcggcactgggtacagaGctggatgacaggaggttttc	15	8	0	2	rs5997988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:31838085G>A	ENST00000397525.1	-	17	2449	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Silent_p.S718S|EIF4ENIF1_ENST00000382180.2_Silent_p.S397S|EIF4ENIF1_ENST00000344710.5_Silent_p.S568S|EIF4ENIF1_ENST00000330125.5_Silent_p.S742S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	742						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGGTACAGAGCTGGATGACA	0.478													G|||	1621	0.323682	0.4039	0.3026	5008	,	,		18314	0.0377		0.4583	False		,,,				2504	0.3865				p.S742S		Atlas-SNP	.											.	EIF4ENIF1	80	.	0			c.C2226T						PASS	.	G	,,	1863,2543	539.4+/-375.3	388,1087,728	104	109	107		2226,1704,2226	-0.7	0.3	22	dbSNP_114	107	3953,4647	550.0+/-385.6	907,2139,1254	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4ENIF1	NM_001164501.1,NM_001164502.1,NM_019843.3	,,	1295,3226,1982	AA,AG,GG		45.9651,42.2833,44.7178	,,	742/986,568/812,742/986	31838085	5816,7190	2203	4300	6503	SO:0001819	synonymous_variant	56478	exon17			TACAGAGCTGGAT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2226C>T	22.37:g.31838085G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	138	61	0.442029	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																			G|0.611;A|0.389	0.389	strong		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31838085	G	A	31838085	2	1	23	1	0	0	0	0	0	0	0	1	5035	962	34	2		2	EIF4ENIF1	22	31838085	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	350939	31838085	19466481	4745	21201										
DEPDC5	9681	hgsc.bcm.edu	37	chr22	32205632	32205632	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaaaaaatggccgtgatacAtgtgagtattttttgagatt	10	4	0	3	rs5998135	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:32205632A>C	ENST00000382112.3	+	18	1393	c.1323A>C	c.(1321-1323)acA>acC	p.T441T	DEPDC5_ENST00000382111.2_Splice_Site_p.T441T|DEPDC5_ENST00000400246.1_Splice_Site_p.T441T|DEPDC5_ENST00000400242.3_Splice_Site_p.T441T|DEPDC5_ENST00000535622.1_Splice_Site_p.T441T|DEPDC5_ENST00000536766.1_Splice_Site_p.T413T|DEPDC5_ENST00000266091.3_Splice_Site_p.T441T|DEPDC5_ENST00000400248.2_Splice_Site_p.T441T|DEPDC5_ENST00000400249.2_Splice_Site_p.T441T|DEPDC5_ENST00000382105.2_Splice_Site_p.T441T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	441					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCGTGATACATGTGAGTATT	0.413													a|||	448	0.0894569	0.1097	0.1859	5008	,	,		18696	0.0347		0.0984	False		,,,				2504	0.0409				p.T441T		Atlas-SNP	.											.	DEPDC5	266	.	0			c.A1323C						PASS	.	G	,,,,	469,3189		39,391,1399	90	86	87		1323,1323,1323,1323,1323	-10.8	0.6	22	dbSNP_114	87	814,7356		41,732,3312	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DEPDC5	NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,,	80,1123,4711	CC,CA,AA		9.9633,12.8212,10.8471	,,,,	441/560,441/1595,441/1604,441/1504,441/1573	32205632	1283,10545	1829	4085	5914	SO:0001630	splice_region_variant	9681	exon19			TGATACATGTGAG	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1324+1A>C	22.37:g.32205632A>C		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	53	14	0.264151	NM_001242897	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1																																																																																			A|0.906;C|0.094	0.094	strong		0.413	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	Silent	C	32205632	A	C	32205632	5	2	23	1	0	0	0	0	0	0	1	0	4442	231	8	5	1393	5	DEPDC5	22	32205632	Splice_Site	SNP	A	TCGA-GR-7353-01A-11D-2210-10	367547	32205632	19098934	4746	21202										
C22orf42	150297	hgsc.bcm.edu	37	chr22	32554997	32554997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acatcttcagcatcttcggcGtcttcgggaggctgaggtac	12	11	4	1	rs78036098	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:32554997G>A	ENST00000382097.3	-	1	278	c.206C>T	c.(205-207)aCg>aTg	p.T69M	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	69										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CATCTTCGGCGTCTTCGGGAG	0.562													.|||	25	0.00499201	0.0	0.0072	5008	,	,		17976	0.001		0.0169	False		,,,				2504	0.002				p.T69M		Atlas-SNP	.											C22orf42,NS,carcinoma,-1,1	C22orf42	37	1	0			c.C206T						scavenged	.	G	MET/THR	9,4397	15.5+/-35.6	0,9,2194	177	173	174		206		0	22	dbSNP_132	174	168,8432	77.2+/-139.8	0,168,4132	yes	missense	C22orf42	NM_001010859.1	81	0,177,6326	AA,AG,GG		1.9535,0.2043,1.3609	probably-damaging	69/252	32554997	177,12829	2203	4300	6503	SO:0001583	missense	150297	exon1			TTCGGCGTCTTCG	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.206C>T	22.37:g.32554997G>A	ENSP00000371529:p.Thr69Met	Somatic	290	2	0.00689655		WXS	Illumina HiSeq	Phase_I	302	123	0.407285	NM_001010859	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	16	0.007326007326007326	0	0.0	2	0.0055248618784530384	0	0.0	14	0.018469656992084433	G	2.354	-0.348287	0.05208	0.002043	0.019535	ENSG00000205856	ENST00000382097	T	0.23348	1.91	.	.	.	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.62014	0.897	T	0.19160	-1.0314	7	0.20046	T	0.44	.	.	.	.	.	69	Q6IC83	CV042_HUMAN	M	69	ENSP00000371529:T69M	ENSP00000371529:T69M	T	-	2	0	C22orf42	30884997	0.002000	0.14202	0.037000	0.18230	0.041000	0.13682	-0.993000	0.03720	0.064000	0.16427	0.064000	0.15345	ACG	G|0.988;A|0.012	0.012	strong		0.562	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		A	32554997	G	A	32554997	3	1	23	1	0	0	0	0	1	0	0	0	2149	1145	40	1	585	1	C22orf42	22	32554997	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	349365	32554997	18749569	4747	21203										
SLC5A4	6527	hgsc.bcm.edu	37	chr22	32631021	32631021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttgtccccctcgactacggAtggggtggcattcacgtact	12	12	1	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:32631021A>G	ENST00000266086.4	-	8	735	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	242					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGACTACGGATGGGGTGGCA	0.483																																					p.S242P		Atlas-SNP	.											SLC5A4,NS,carcinoma,+2,2	SLC5A4	82	2	0			c.T724C						scavenged	.						201	182	188					22																	32631021		2203	4300	6503	SO:0001583	missense	6527	exon8			CTACGGATGGGGT	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.724T>C	22.37:g.32631021A>G	ENSP00000266086:p.Ser242Pro	Somatic	174	1	0.00574713		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_014227	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	5.548	0.286036	0.10513	.	.	ENSG00000100191	ENST00000266086	D	0.88509	-2.39	4.64	2.39	0.29439	.	0.341722	0.35320	N	0.003289	D	0.91798	0.7405	M	0.76574	2.34	0.19775	N	0.999957	P	0.49307	0.922	P	0.59948	0.866	D	0.84495	0.0613	10	0.72032	D	0.01	.	8.3072	0.32049	0.6847:0.0:0.0:0.3153	.	242	Q9NY91	SC5A4_HUMAN	P	242	ENSP00000266086:S242P	ENSP00000266086:S242P	S	-	1	0	SLC5A4	30961021	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-0.337000	0.07852	0.330000	0.23485	0.528000	0.53228	TCC	.	.	none		0.483	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		G	32631021	A	G	32631021	3	3	23	1	0	0	0	0	1	0	0	0	14667	333	12	2	1287	2	SLC5A4	22	32631021	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	76024	32631021	18673545	4748	21204										
FBXO7	25793	hgsc.bcm.edu	37	chr22	32875190	32875190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agctccaatcagactagcatGcaggatgaacaaccaagtga	9	10	1	3	rs11107	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:32875190G>A	ENST00000266087.7	+	2	672	c.345G>A	c.(343-345)atG>atA	p.M115I	FBXO7_ENST00000397426.1_Start_Codon_SNP_p.M1I|FBXO7_ENST00000382058.3_Missense_Mutation_p.M36I|FBXO7_ENST00000465418.1_3'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	115	Important for interaction with PINK1.		M -> I (in dbSNP:rs11107). {ECO:0000269|PubMed:10531035, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18513678}.		cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGACTAGCATGCAGGATGAAC	0.448													g|||	2441	0.48742	0.4047	0.5663	5008	,	,		17154	0.6915		0.3748	False		,,,				2504	0.4489				p.M115I		Atlas-SNP	.											.	FBXO7	131	.	0			c.G345A						PASS	.	G	ILE/MET,ILE/MET	1640,2766	501.8+/-365.1	307,1026,870	93	92	92		108,345	-3.6	0	22	dbSNP_52	92	3202,5398	483.2+/-371.1	572,2058,1670	yes	missense,missense	FBXO7	NM_001033024.1,NM_012179.3	10,10	879,3084,2540	AA,AG,GG		37.2326,37.222,37.229	benign,benign	36/444,115/523	32875190	4842,8164	2203	4300	6503	SO:0001583	missense	25793	exon2			TAGCATGCAGGAT	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.345G>A	22.37:g.32875190G>A	ENSP00000266087:p.Met115Ile	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	169	66	0.390533	NM_012179	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	1067	0.48855311355311354	185	0.37601626016260165	193	0.5331491712707183	396	0.6923076923076923	293	0.3865435356200528	g	0.741	-0.776340	0.02951	0.37222	0.372326	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.53	-3.63	0.04529	.	1.881220	0.01957	N	0.043074	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47368	-0.9123	9	0.37606	T	0.19	0.134	0.4433	0.00489	0.2236:0.1582:0.2575:0.3607	rs11107;rs710174;rs3171628;rs17350295;rs17771677;rs17850310;rs52811518;rs58963810;rs11107	36;115;1	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	I	115;36;36;1;1	ENSP00000266087:M115I;ENSP00000388547:M36I;ENSP00000371490:M36I;ENSP00000380571:M1I;ENSP00000404388:M1I	ENSP00000266087:M115I	M	+	3	0	FBXO7	31205190	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.024000	0.12435	-0.629000	0.05575	-0.578000	0.04140	ATG	G|0.577;N|0.000	.	strong		0.448	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			A	32875190	G	A	32875190	3	1	23	1	0	0	0	0	1	0	0	0	5760	1319	46	2	392	2	FBXO7	22	32875190	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	244169	32875190	18429376	4749	21205										
FBXO7	25793	hgsc.bcm.edu	37	chr22	32880006	32880006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcggtggaagggcaagtgccAcattcattagagaccttgta	12	8	1	1	rs41311141	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:32880006A>G	ENST00000266087.7	+	3	867	c.540A>G	c.(538-540)ccA>ccG	p.P180P	FBXO7_ENST00000397426.1_Silent_p.P66P|FBXO7_ENST00000382058.3_Silent_p.P101P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	180	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCAAGTGCCACATTCATTAG	0.448													A|||	65	0.0129792	0.0023	0.0173	5008	,	,		18985	0.0		0.0437	False		,,,				2504	0.0061				p.P180P		Atlas-SNP	.											.	FBXO7	131	.	0			c.A540G						PASS	.	A	,	35,4371	40.8+/-73.8	0,35,2168	268	221	237		303,540	-7	1	22	dbSNP_127	237	402,8198	127.3+/-185.7	13,376,3911	no	coding-synonymous,coding-synonymous	FBXO7	NM_001033024.1,NM_012179.3	,	13,411,6079	GG,GA,AA		4.6744,0.7944,3.36	,	101/444,180/523	32880006	437,12569	2203	4300	6503	SO:0001819	synonymous_variant	25793	exon3			AGTGCCACATTCA	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.540A>G	22.37:g.32880006A>G		Somatic	375	1	0.00266667		WXS	Illumina HiSeq	Phase_I	324	140	0.432099	NM_012179	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	CCDS13907.1																																																																																			A|0.969;G|0.030;T|0.000	0.030	strong		0.448	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			G	32880006	A	G	32880006	2	3	23	1	0	0	0	0	0	0	0	1	5760	146	6	2		2	FBXO7	22	32880006	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	4816	32880006	18424560	4750	21206										
TOM1	10043	hgsc.bcm.edu	37	chr22	35742925	35742925	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccttctaccttcccagggTaatgatgcggaagagcctaa	9	11	1	2	rs743810	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:35742925T>G	ENST00000449058.2	+	14	1412	c.1287T>G	c.(1285-1287)ggT>ggG	p.G429G	TOM1_ENST00000447733.1_Silent_p.G396G|TOM1_ENST00000411850.1_Silent_p.G429G|TOM1_ENST00000436462.2_Silent_p.G391G|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Silent_p.G384G	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	429					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.G429G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTTCCCAGGGTAATGATGCGG	0.662													G|||	1757	0.350839	0.6959	0.3458	5008	,	,		14387	0.12		0.2266	False		,,,				2504	0.2536				p.G429G		Atlas-SNP	.											TOM1,NS,carcinoma,0,1	TOM1	43	1	1	Substitution - coding silent(1)	prostate(1)	c.T1287G						scavenged	.	G	,,,	2618,1788	523.1+/-371.0	783,1052,368	65	73	70		1188,1152,1287,1287	-3.6	0	22	dbSNP_86	70	2064,6536	714.8+/-406.0	236,1592,2472	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOM1	NM_001135729.1,NM_001135730.1,NM_001135732.1,NM_005488.2	,,,	1019,2644,2840	GG,GT,TT		24.0,40.581,35.9988	,,,	396/461,384/448,429/494,429/493	35742925	4682,8324	2203	4300	6503	SO:0001819	synonymous_variant	10043	exon14			CCAGGGTAATGAT	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1287T>G	22.37:g.35742925T>G		Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	63	33	0.52381	NM_001135732	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1																																																																																			T|0.655;G|0.345	0.345	strong		0.662	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		G	35742925	T	G	35742925	2	3	23	1	0	0	0	0	0	0	0	1	16348	1625	57	5		5	TOM1	22	35742925	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2862919	35742925	15561641	4751	21207										
APOL3	80833	hgsc.bcm.edu	37	chr22	36537671	36537671	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	acttccttaaataccttcaaTcggtcaatgctggttgcagt	7	10	2	0	rs132619	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:36537671T>G	ENST00000349314.2	-	3	823	c.786A>C	c.(784-786)cgA>cgC	p.R262R	APOL3_ENST00000397293.2_Silent_p.R191R|APOL3_ENST00000397287.2_Silent_p.R62R|APOL3_ENST00000361710.2_Silent_p.R62R|APOL3_ENST00000424878.2_Silent_p.R62R|APOL3_ENST00000487423.1_5'Flank	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	262					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ATACCTTCAATCGGTCAATGC	0.468													T|||	15	0.00299521	0.0008	0.0101	5008	,	,		24005	0.0		0.005	False		,,,				2504	0.002				p.R262R		Atlas-SNP	.											APOL3_ENST00000349314,NS,malignant_melanoma,-1,2	APOL3	60	2	0			c.A786C						PASS	.	T	,,	7,4399	12.9+/-30.5	0,7,2196	87	79	82		786,186,186	-0.1	0	22	dbSNP_78	82	51,8549	32.3+/-84.9	0,51,4249	no	coding-synonymous,coding-synonymous,coding-synonymous	APOL3	NM_145640.2,NM_145641.2,NM_145642.2	,,	0,58,6445	GG,GT,TT		0.593,0.1589,0.4459	,,	262/403,62/203,62/203	36537671	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	80833	exon3			CTTCAATCGGTCA	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.786A>C	22.37:g.36537671T>G		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	45	29	0.644444	NM_145640	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	ENST00000349314.2	37	CCDS13922.1																																																																																			T|0.997;G|0.003	0.003	strong		0.468	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		G	36537671	T	G	36537671	2	3	23	1	0	0	0	0	0	0	0	1	807	1422	50	5		5	APOL3	22	36537671	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	794746	36537671	14766895	4752	21208										
MYH9	4627	hgsc.bcm.edu	37	chr22	36681953	36681953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctcgtcagccagctcatccCgctcctgctgggcctggcgc	11	18	3	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:36681953C>T	ENST00000216181.5	-	36	5338	c.5108G>A	c.(5107-5109)cGg>cAg	p.R1703Q	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCTCATCCCGCTCCTGCTG	0.657			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												p.R1703Q		Atlas-SNP	.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	MYH9,NS,carcinoma,+1,1	MYH9	225	1	0			c.G5108A						scavenged	.						54	51	52					22																	36681953		2203	4300	6503	SO:0001583	missense	4627	exon36	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	TCATCCCGCTCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5108G>A	22.37:g.36681953C>T	ENSP00000216181:p.Arg1703Gln	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	159	3	0.0188679	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915297	0.92178	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78707	-1.2	4.96	4.96	0.65561	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.90916	0.4779	10	0.51188	T	0.08	.	18.2038	0.89847	0.0:1.0:0.0:0.0	.	1703	P35579	MYH9_HUMAN	Q	1125;305;1703	ENSP00000216181:R1703Q	ENSP00000216181:R1703Q	R	-	2	0	MYH9	35011899	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.686000	0.84128	2.294000	0.77228	0.306000	0.20318	CGG	.	.	none		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36681953	C	T	36681953	3	4	23	1	0	0	0	0	1	0	0	0	10042	652	23	1	798	1	MYH9	22	36681953	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	144282	36681953	14622613	4753	21209										
MYH9	4627	hgsc.bcm.edu	37	chr22	36689434	36689434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttggcctcctcctcctcctCcagctgctcccggaaggaat	8	18	0	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:36689434C>T	ENST00000216181.5	-	30	4266	c.4036G>A	c.(4036-4038)Gag>Aag	p.E1346K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1346					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTCCTCCTCCAGCTGCTCC	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												p.E1346K		Atlas-SNP	.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	.	MYH9	225	.	0			c.G4036A						PASS	.						80	76	77					22																	36689434		2203	4300	6503	SO:0001583	missense	4627	exon30	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CCTCCTCCAGCTG		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4036G>A	22.37:g.36689434C>T	ENSP00000216181:p.Glu1346Lys	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763943	0.89932	.	.	ENSG00000100345	ENST00000216181	D	0.84070	-1.8	5.0	2.88	0.33553	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90771	0.4672	10	0.87932	D	0	.	10.4603	0.44575	0.0:0.7922:0.1347:0.0731	.	1346	P35579	MYH9_HUMAN	K	1346	ENSP00000216181:E1346K	ENSP00000216181:E1346K	E	-	1	0	MYH9	35019380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.997000	0.70646	0.607000	0.29982	0.491000	0.48974	GAG	.	.	none		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36689434	C	T	36689434	3	4	23	1	0	0	0	0	1	0	0	0	10042	864	30	2	1894	2	MYH9	22	36689434	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7481	36689434	14615132	4754	21210										
EIF3D	8664	hgsc.bcm.edu	37	chr22	36912630	36912630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggacaataaggtcaatatcAtctccaagcttccacctgcg	7	13	3	0	rs11558519	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:36912630A>G	ENST00000216190.8	-	12	1471	c.1101T>C	c.(1099-1101)gaT>gaC	p.D367D	EIF3D_ENST00000405442.1_Silent_p.D367D|EIF3D_ENST00000541106.1_Silent_p.D318D	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GGTCAATATCATCTCCAAGCT	0.498													G|||	364	0.0726837	0.1271	0.0576	5008	,	,		20490	0.002		0.0646	False		,,,				2504	0.091				p.D367D		Atlas-SNP	.											.	EIF3D	37	.	0			c.T1101C						PASS	.	G		568,3838	773.3+/-413.9	36,496,1671	286	264	271		1101	-7.3	0.1	22	dbSNP_120	271	669,7931	789.1+/-407.6	15,639,3646	no	coding-synonymous	EIF3D	NM_003753.3		51,1135,5317	GG,GA,AA		7.7791,12.8915,9.511		367/549	36912630	1237,11769	2203	4300	6503	SO:0001819	synonymous_variant	8664	exon12			AATATCATCTCCA	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1101T>C	22.37:g.36912630A>G		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	181	80	0.441989	NM_003753		Silent	SNP	ENST00000216190.8	37	CCDS13930.1																																																																																			A|0.914;G|0.086	0.086	strong		0.498	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			G	36912630	A	G	36912630	2	3	23	1	0	0	0	0	0	0	0	1	5014	214	8	2		2	EIF3D	22	36912630	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	223196	36912630	14391936	4755	21211										
CSF2RB	1439	hgsc.bcm.edu	37	chr22	37329999	37329999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggctacaacgggatctggagCgagtggagtgaggcgcgctc	18	9	1	1	rs1801117	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:37329999C>T	ENST00000403662.3	+	10	1500	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	CSF2RB_ENST00000406230.1_Silent_p.S432S|CSF2RB_ENST00000536485.1_Silent_p.S373S|CSF2RB_ENST00000262825.5_Silent_p.S432S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	426	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGATCTGGAGCGAGTGGAGTG	0.652													C|||	941	0.187899	0.2648	0.1268	5008	,	,		17303	0.0734		0.2187	False		,,,				2504	0.2137				p.S426S		Atlas-SNP	.											.	CSF2RB	104	.	0			c.C1278T						PASS	.	C		1042,3364	379.7+/-323.4	133,776,1294	61	59	59		1278	0.2	1	22	dbSNP_89	59	1958,6642	343.7+/-325.0	234,1490,2576	no	coding-synonymous	CSF2RB	NM_000395.2		367,2266,3870	TT,TC,CC		22.7674,23.6496,23.0663		426/898	37329999	3000,10006	2203	4300	6503	SO:0001819	synonymous_variant	1439	exon10			CTGGAGCGAGTGG	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1278C>T	22.37:g.37329999C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	62	32	0.516129	NM_000395	Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	CCDS13936.1																																																																																			C|0.793;T|0.207	0.207	strong		0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37329999	C	T	37329999	2	4	23	1	0	0	0	0	0	0	0	1	3935	767	27	1		1	CSF2RB	22	37329999	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	417369	37329999	13974567	4756	21212										
KCTD17	79734	hgsc.bcm.edu	37	chr22	37458586	37458586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgttacaagccagaggcaccCggatgtgaggccccagatca	12	12	1	3	rs116956945	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:37458586C>T	ENST00000403888.3	+	9	919	c.918C>T	c.(916-918)ccC>ccT	p.P306P	KCTD17_ENST00000402077.3_Silent_p.P282P	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	306	Pro-rich.				protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CAGAGGCACCCGGATGTGAGG	0.587													C|||	106	0.0211661	0.0045	0.0259	5008	,	,		12259	0.001		0.0447	False		,,,				2504	0.0368				p.P282P		Atlas-SNP	.											KCTD17,NS,carcinoma,0,1	KCTD17	17	1	0			c.C846T						PASS	.	C		42,4364	44.6+/-78.6	0,42,2161	55	56	55		846	1.5	1	22	dbSNP_132	55	472,8128	134.3+/-191.7	15,442,3843	no	coding-synonymous	KCTD17	NM_024681.2		15,484,6004	TT,TC,CC		5.4884,0.9532,3.952		282/298	37458586	514,12492	2203	4300	6503	SO:0001819	synonymous_variant	79734	exon8			GGCACCCGGATGT	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.918C>T	22.37:g.37458586C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	78	46	0.589744	NM_024681	B0QYA9|B0QYB0|O95517	Silent	SNP	ENST00000403888.3	37																																																																																				C|0.965;T|0.035	0.035	strong		0.587	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		T	37458586	C	T	37458586	2	4	23	1	0	0	0	0	0	0	0	1	8104	639	23	1		1	KCTD17	22	37458586	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	128587	37458586	13845980	4757	21213										
TMPRSS6	164656	hgsc.bcm.edu	37	chr22	37462926	37462926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcatgcgtggcgtcacctgGtagcgatagacctcgctgca	13	12	1	1	rs2235321	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:37462926G>A	ENST00000346753.3	-	17	2333	c.2217C>T	c.(2215-2217)taC>taT	p.Y739Y	TMPRSS6_ENST00000406725.1_Silent_p.Y730Y|TMPRSS6_ENST00000381792.2_Silent_p.Y752Y|TMPRSS6_ENST00000406856.1_Silent_p.Y752Y	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	739	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.Y739Y(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCGTCACCTGGTAGCGATAGA	0.607													G|||	1783	0.35603	0.41	0.2118	5008	,	,		20113	0.4087		0.4245	False		,,,				2504	0.2607				p.Y739Y		Atlas-SNP	.											TMPRSS6,NS,carcinoma,0,1	TMPRSS6	99	1	1	Substitution - coding silent(1)	stomach(1)	c.C2217T						PASS	.	G		1850,2556	536.1+/-374.4	378,1094,731	133	98	110		2217	3.7	1	22	dbSNP_98	110	3223,5377	485.3+/-371.6	616,1991,1693	yes	coding-synonymous	TMPRSS6	NM_153609.2		994,3085,2424	AA,AG,GG		37.4767,41.9882,39.0051		739/812	37462926	5073,7933	2203	4300	6503	SO:0001819	synonymous_variant	164656	exon17			CACCTGGTAGCGA	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2217C>T	22.37:g.37462926G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	201	99	0.492537	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			G|0.622;A|0.377	0.377	strong		0.607	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		A	37462926	G	A	37462926	2	1	23	1	0	0	0	0	0	0	0	1	16248	1256	44	2		2	TMPRSS6	22	37462926	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4340	37462926	13841640	4758	21214										
RAC2	5880	hgsc.bcm.edu	37	chr22	37622815	37622815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttcaggcctctctgggtgagAgctgagcactccaggtattt	12	10	2	2	rs1064498	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:37622815A>G	ENST00000249071.6	-	6	598	c.477T>C	c.(475-477)gcT>gcC	p.A159A	RAC2_ENST00000406508.1_Silent_p.A115A|RAC2_ENST00000405484.1_Silent_p.A152A	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	159					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TCTGGGTGAGAGCTGAGCACT	0.632													g|||	1239	0.247404	0.4508	0.1023	5008	,	,		15446	0.3105		0.1501	False		,,,				2504	0.1104				p.A159A		Atlas-SNP	.											.	RAC2	22	.	0			c.T477C						PASS	.			1718,2688	650.4+/-399.0	342,1034,827	57	65	62		477	-0.1	0.9	22	dbSNP_86	62	1212,7386	761.9+/-407.6	81,1050,3168	no	coding-synonymous	RAC2	NM_002872.3		423,2084,3995	GG,GA,AA		14.0963,38.9923,22.5315		159/193	37622815	2930,10074	2203	4299	6502	SO:0001819	synonymous_variant	5880	exon6			GGTGAGAGCTGAG	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.477T>C	22.37:g.37622815A>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	58	22	0.37931	NM_002872	Q9UDJ4	Silent	SNP	ENST00000249071.6	37	CCDS13945.1																																																																																			T|0.000;G|0.229;A|0.771	0.229	strong		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			G	37622815	A	G	37622815	2	3	23	1	0	0	0	0	0	0	0	1	12975	291	11	3		3	RAC2	22	37622815	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	159889	37622815	13681751	4759	21215										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38119755	38119757	+	In_Frame_Del	DEL	CAA	CAA	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cctctcccaacagaaccactCaacgagagaattccagaaca					rs201160789|rs71322688|rs55745992|rs67890459|rs77530465|rs199535040	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:38119755_38119757delCAA	ENST00000406386.3	+	7	1447_1449	c.1192_1194delCAA	c.(1192-1194)caadel	p.Q398del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	398					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.Q398R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACCACTCAACGAGAGAATT	0.552														1684	0.336262	0.1536	0.2853	5008	,	,		18750	0.5863		0.3877	False		,,,				2504	0.3088				p.397_398del		Pindel	.											.	TRIOBP	262	.	1	Substitution - Missense(1)	lung(1)	c.1191_1193del						PASS	.			658,3014		76,506,1254						-4.9	0.1		dbSNP_132	129	3439,4489		755,1929,1280	no	coding	TRIOBP	NM_001039141.2		831,2435,2534	A1A1,A1R,RR		43.3779,17.9194,35.319				4097,7503				SO:0001651	inframe_deletion	11078	exon7			.	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1192_1194delCAA	22.37:g.38119755_38119757delCAA	ENSP00000384312:p.Gln398del	Somatic	128	.	.		WXS	Illumina HiSeq	Phase_I	118	35	0.297	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	CCDS43015.1																																																																																			-|0.368;CAA|0.632	0.368	strong		0.552	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			-	38119757	CAA	-	38119755	7	5	23	1	0	1	0	1	0	0	0	0	16550	827	29	0	1210	0	TRIOBP	22	38119755	In_Frame_Del	DEL	CAA	TCGA-GR-7353-01A-11D-2210-10	496940	38119755	13184811	4760	21216										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38121152	38121152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttcctttcaacgagacaaCcctggaacctcctcatctca	4	15	3	1	rs9610841	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:38121152C>A	ENST00000406386.3	+	7	2844	c.2589C>A	c.(2587-2589)aaC>aaA	p.N863K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	863			N -> K (in dbSNP:rs9610841).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACGAGACAACCCTGGAACCT	0.493													C|||	1684	0.336262	0.1536	0.2853	5008	,	,		19774	0.5863		0.3877	False		,,,				2504	0.3088				p.N863K		Atlas-SNP	.											TRIOBP_ENST00000344404,NS,carcinoma,+1,1	TRIOBP	262	1	0			c.C2589A						PASS	.	C	LYS/ASN	713,3343		76,561,1391	136	146	142		2589	1.5	0	22	dbSNP_119	142	3588,4772		770,2048,1362	yes	missense	TRIOBP	NM_001039141.2	94	846,2609,2753	AA,AC,CC		42.9187,17.5789,34.6408	probably-damaging	863/2366	38121152	4301,8115	2028	4180	6208	SO:0001583	missense	11078	exon7			AGACAACCCTGGA	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2589C>A	22.37:g.38121152C>A	ENSP00000384312:p.Asn863Lys	Somatic	206	1	0.00485437		WXS	Illumina HiSeq	Phase_I	149	74	0.496644	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	820	0.37545787545787546	84	0.17073170731707318	113	0.31215469613259667	330	0.5769230769230769	293	0.3865435356200528	C	16.23	3.063622	0.55432	0.175789	0.429187	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20738	2.05	5.0	1.51	0.23008	.	.	.	.	.	T	0.00012	0.0000	M	0.64404	1.975	0.58432	P	1.0000000000287557E-6	B	0.33694	0.421	B	0.25140	0.058	T	0.41360	-0.9513	8	0.59425	D	0.04	.	4.9617	0.14070	0.1683:0.64:0.0:0.1918	rs9610841;rs57925914;rs9610841	863	Q9H2D6	TARA_HUMAN	K	863	ENSP00000384312:N863K	ENSP00000384312:N863K	N	+	3	2	TRIOBP	36451098	0.000000	0.05858	0.037000	0.18230	0.473000	0.32948	-0.011000	0.12721	0.622000	0.30249	0.460000	0.39030	AAC	C|0.623;A|0.377	0.377	strong		0.493	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38121152	C	A	38121152	3	1	23	1	0	0	0	0	1	0	0	0	16550	506	18	4	2607	4	TRIOBP	22	38121152	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1397	38121152	13183414	4761	21217										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122122	38122122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggctcctgagccatccctcTtcttccaggatccccctgga	8	17	2	1	rs5756795	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:38122122T>C	ENST00000406386.3	+	7	3814	c.3559T>C	c.(3559-3561)Ttc>Ctc	p.F1187L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1187			F -> L (in dbSNP:rs5756795).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCATCCCTCTTCTTCCAGGA	0.632													T|||	1686	0.336661	0.1543	0.2867	5008	,	,		14041	0.5863		0.3877	False		,,,				2504	0.3088				p.F1187L		Atlas-SNP	.											.	TRIOBP	262	.	0			c.T3559C						PASS	.	T	LEU/PHE	708,3228		74,560,1334	66	75	72		3559	2.9	1	22	dbSNP_114	72	3573,4719		767,2039,1340	yes	missense	TRIOBP	NM_001039141.2	22	841,2599,2674	CC,CT,TT		43.0897,17.9878,35.0098	probably-damaging	1187/2366	38122122	4281,7947	1968	4146	6114	SO:0001583	missense	11078	exon7			TCCCTCTTCTTCC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3559T>C	22.37:g.38122122T>C	ENSP00000384312:p.Phe1187Leu	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	62	31	0.5	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	816	0.37362637362637363	84	0.17073170731707318	113	0.31215469613259667	331	0.5786713286713286	288	0.37994722955145116	T	13.53	2.265441	0.40095	0.179878	0.430897	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.17691	2.26	5.38	2.89	0.33648	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.09310	P	0.999999820884	B	0.12630	0.006	B	0.11329	0.006	T	0.37596	-0.9699	8	0.46703	T	0.11	.	4.6783	0.12722	0.0:0.1944:0.1676:0.638	rs5756795	1187	Q9H2D6	TARA_HUMAN	L	1187	ENSP00000384312:F1187L	ENSP00000384312:F1187L	F	+	1	0	TRIOBP	36452068	0.854000	0.29725	0.996000	0.52242	0.993000	0.82548	1.321000	0.33678	0.893000	0.36288	0.369000	0.22263	TTC	T|0.609;C|0.391	0.391	strong		0.632	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38122122	T	C	38122122	3	2	23	1	0	0	0	0	1	0	0	0	16550	1609	56	3	3577	3	TRIOBP	22	38122122	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	970	38122122	13182444	4762	21218										
GCAT	23464	hgsc.bcm.edu	37	chr22	38204089	38204089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agggggagctggaaggcatcCgcggagctggcacttggaag	19	8	0	0	rs397839522|rs710187	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:38204089C>T	ENST00000248924.6	+	1	171	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000323205.6_Missense_Mutation_p.R39C	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	39			R -> C (in dbSNP:rs710187).		biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGAAGGCATCCGCGGAGCTGG	0.711													.|||	2990	0.597045	0.6407	0.6023	5008	,	,		14234	0.6815		0.5437	False		,,,				2504	0.502				p.R39C		Atlas-SNP	.											GCAT,NS,carcinoma,0,1	GCAT	27	1	0			c.C115T						PASS	.	C	CYS/ARG,CYS/ARG	2693,1695		856,981,357	28	19	22		115,115	4.6	1	22	dbSNP_86	22	4680,3894		1284,2112,891	yes	missense,missense	GCAT	NM_001171690.1,NM_014291.3	180,180	2140,3093,1248	TT,TC,CC		45.4164,38.6281,43.1183	probably-damaging,probably-damaging	39/446,39/420	38204089	7373,5589	2194	4287	6481	SO:0001583	missense	23464	exon1			GGCATCCGCGGAG	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.115C>T	22.37:g.38204089C>T	ENSP00000248924:p.Arg39Cys	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	100	53	0.53	NM_001171690	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	CCDS13957.1	1303	0.5966117216117216	313	0.6361788617886179	203	0.5607734806629834	374	0.6538461538461539	413	0.5448548812664907	c	21.7	4.190764	0.78789	0.613719	0.545836	ENSG00000100116	ENST00000323205;ENST00000248924;ENST00000445195;ENST00000394944	D;D;D	0.96104	-3.91;-3.69;-1.9	4.6	4.6	0.57074	Pyridoxal phosphate-dependent transferase, major domain (1);	0.053451	0.85682	D	0.000000	T	0.00012	0.0000	L	0.58810	1.83	0.09310	P	0.9999999999986385	B;B	0.24043	0.016;0.096	B;B	0.11329	0.002;0.006	T	0.46133	-0.9213	9	0.87932	D	0	-12.1151	17.9807	0.89140	0.0:1.0:0.0:0.0	rs710187;rs3171658;rs17851163;rs710187	39;39	E2QC23;O75600	.;KBL_HUMAN	C	39	ENSP00000371110:R39C;ENSP00000248924:R39C;ENSP00000406719:R39C	ENSP00000248924:R39C	R	+	1	0	GCAT	36534035	1.000000	0.71417	0.999000	0.59377	0.736000	0.42039	6.794000	0.75135	2.545000	0.85829	0.655000	0.94253	CGC	C|0.420;T|0.580	0.580	strong		0.711	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		T	38204089	C	T	38204089	3	4	23	1	0	0	0	0	1	0	0	0	6284	652	23	1	117	1	GCAT	22	38204089	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	81967	38204089	13100477	4763	21219										
SLC16A8	23539	hgsc.bcm.edu	37	chr22	38477275	38477275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatcaggaacttggtgacgGcgtacacggcgaaggcgcgg	16	11	1	1	rs75640043	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:38477275G>A	ENST00000320521.5	-	4	878	c.770C>T	c.(769-771)gCc>gTc	p.A257V	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	257					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CTTGGTGACGGCGTACACGGC	0.721													G|||	140	0.0279553	0.0053	0.0533	5008	,	,		11403	0.003		0.0785	False		,,,				2504	0.0143				p.A257V		Atlas-SNP	.											SLC16A8,NS,carcinoma,0,1	SLC16A8	13	1	0			c.C770T						PASS	.	G	VAL/ALA	70,4292		2,66,2113	18	17	17		770	-0.7	0.9	22	dbSNP_131	17	783,7775		28,727,3524	yes	missense	SLC16A8	NM_013356.2	64	30,793,5637	AA,AG,GG		9.1493,1.6048,6.6022	benign	257/505	38477275	853,12067	2181	4279	6460	SO:0001583	missense	23539	exon4			GTGACGGCGTACA	AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.770C>T	22.37:g.38477275G>A	ENSP00000321735:p.Ala257Val	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	46	44	0.956522	NM_013356	Q9UBE2	Missense_Mutation	SNP	ENST00000320521.5	37	CCDS13966.1	82	0.037545787545787544	5	0.01016260162601626	13	0.03591160220994475	2	0.0034965034965034965	62	0.08179419525065963	G	13.23	2.173754	0.38413	0.016048	0.091493	ENSG00000100156	ENST00000320521	T	0.55930	0.49	3.34	-0.715	0.11215	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.106640	0.06977	N	0.819091	T	0.01870	0.0059	L	0.41124	1.26	0.22975	N	0.998482	B	0.19583	0.037	B	0.24974	0.057	T	0.10428	-1.0630	10	0.20046	T	0.44	.	7.5375	0.27719	0.4057:0.0:0.5943:0.0	.	257	O95907	MOT3_HUMAN	V	257	ENSP00000321735:A257V	ENSP00000321735:A257V	A	-	2	0	SLC16A8	36807221	0.995000	0.38212	0.948000	0.38648	0.931000	0.56810	2.753000	0.47524	-0.042000	0.13535	0.313000	0.20887	GCC	G|0.951;A|0.049	0.049	strong		0.721	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321724.1	NM_013356		A	38477275	G	A	38477275	3	1	23	1	0	0	0	0	1	0	0	0	14414	1203	42	2	752	2	SLC16A8	22	38477275	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	273186	38477275	12827291	4764	21220										
APOBEC3F	200316	hgsc.bcm.edu	37	chr22	39438955	39438955	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttcagaaacacagtggagCgaatgtatcgagacacattc	9	9	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:39438955C>T	ENST00000308521.5	+	2	388	c.31C>T	c.(31-33)Cga>Tga	p.R11*	APOBEC3F_ENST00000381565.2_Nonsense_Mutation_p.R11*|APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	11					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CACAGTGGAGCGAATGTATCG	0.502																																					p.R11X		Atlas-SNP	.											APOBEC3F_ENST00000381565,brain,glioma,0,2	APOBEC3F	37	2	0			c.C31T						scavenged	.						52	50	51					22																	39438955		2203	4297	6500	SO:0001587	stop_gained	200316	exon2			GTGGAGCGAATGT	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.31C>T	22.37:g.39438955C>T	ENSP00000309749:p.Arg11*	Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	318	4	0.0125786	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Nonsense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232238	0.39498	.	.	ENSG00000128394	ENST00000308521;ENST00000381565	.	.	.	1.96	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.034	0.24983	0.4145:0.5855:0.0:0.0	.	.	.	.	X	11	.	ENSP00000309749:R11X	R	+	1	2	APOBEC3F	37768901	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.371000	0.02573	-0.323000	0.08602	0.561000	0.74099	CGA	.	.	none		0.502	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		T	39438955	C	T	39438955	4	4	23	1	0	0	0	0	0	1	0	0	793	760	27	1	37	1	APOBEC3F	22	39438955	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	961680	39438955	11865611	4765	21221										
APOBEC3F	200316	hgsc.bcm.edu	37	chr22	39441478	39441478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgtgtacagtgaaggtcagcCattcatgccttggtacaaat	10	8	2	1	rs138934952	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:39441478C>A	ENST00000308521.5	+	4	854	c.497C>A	c.(496-498)cCa>cAa	p.P166Q	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	166					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GAAGGTCAGCCATTCATGCCT	0.527													C|||	9	0.00179712	0.0	0.0	5008	,	,		22581	0.0		0.0089	False		,,,				2504	0.0				p.P166Q		Atlas-SNP	.											.	APOBEC3F	37	.	0			c.C497A						PASS	.	C	GLN/PRO	1,4405		0,1,2202	363	299	321		497	-1.4	0	22	dbSNP_134	321	13,8587		0,13,4287	no	missense	APOBEC3F	NM_145298.5	76	0,14,6489	AA,AC,CC		0.1512,0.0227,0.1076	benign	166/374	39441478	14,12992	2203	4300	6503	SO:0001583	missense	200316	exon4			GTCAGCCATTCAT	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.497C>A	22.37:g.39441478C>A	ENSP00000309749:p.Pro166Gln	Somatic	455	0	0		WXS	Illumina HiSeq	Phase_I	425	197	0.463529	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	.	5.006	0.186780	0.09547	2.27E-4	0.001512	ENSG00000128394	ENST00000308521	T	0.63096	-0.02	2.27	-1.43	0.08884	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.30386	0.0763	N	0.25825	0.765	0.09310	N	1	B	0.18741	0.03	B	0.17433	0.018	T	0.15292	-1.0442	9	0.20519	T	0.43	.	1.0452	0.01568	0.2303:0.3935:0.226:0.1502	.	166	Q8IUX4	ABC3F_HUMAN	Q	166	ENSP00000309749:P166Q	ENSP00000309749:P166Q	P	+	2	0	APOBEC3F	37771424	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.825000	0.04433	-0.226000	0.09899	0.400000	0.26472	CCA	C|0.998;A|0.002	0.002	strong		0.527	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39441478	C	A	39441478	3	1	23	1	0	0	0	0	1	0	0	0	793	594	21	4	650	4	APOBEC3F	22	39441478	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2523	39441478	11863088	4766	21222										
RPL3	6122	hgsc.bcm.edu	37	chr22	39714490	39714490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtgaggtggaccggcttggaCgggtcatccttagggaagct	17	8	1	1	rs6509	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:39714490C>T	ENST00000216146.4	-	2	284	c.111G>A	c.(109-111)ccG>ccA	p.P37P	SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	37					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CCGGCTTGGACGGGTCATCCT	0.597													C|||	1501	0.29972	0.1884	0.4121	5008	,	,		16002	0.119		0.493	False		,,,				2504	0.3579				p.P37P		Atlas-SNP	.											.	RPL3	29	.	0			c.G111A						PASS	.	C	,	977,3429	366.4+/-317.8	107,763,1333	53	49	50		111,111	-5.6	0	22	dbSNP_52	50	4261,4333	569.4+/-389.2	1049,2163,1085	no	coding-synonymous,coding-synonymous	RPL3	NM_000967.3,NM_001033853.1	,	1156,2926,2418	TT,TC,CC		49.5811,22.1743,40.2923	,	37/404,37/355	39714490	5238,7762	2203	4297	6500	SO:0001819	synonymous_variant	6122	exon2			CTTGGACGGGTCA	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.111G>A	22.37:g.39714490C>T		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	91	89	0.978022	NM_001033853	B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	CCDS13988.1	692	0.31684981684981683	104	0.21138211382113822	152	0.4198895027624309	63	0.11013986013986014	373	0.4920844327176781	C	3.178	-0.168576	0.06461	0.221743	0.495811	ENSG00000100316	ENST00000427905	.	.	.	4.5	-5.55	0.02536	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999876598	.	.	.	.	.	.	T	0.42632	-0.9440	3	.	.	.	.	4.7003	0.12823	0.11:0.4806:0.2906:0.1187	rs6509;rs137624;rs17849573;rs17850289;rs17850961;rs17851086;rs17855216;rs58337650	.	.	.	I	69	.	.	V	-	1	0	RPL3	38044436	0.997000	0.39634	0.000000	0.03702	0.148000	0.21650	0.413000	0.21148	-1.649000	0.01508	-0.493000	0.04662	GTC	C|0.625;T|0.375	0.375	strong		0.597	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		T	39714490	C	T	39714490	2	4	23	1	0	0	0	0	0	0	0	1	13579	523	19	1		1	RPL3	22	39714490	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	273012	39714490	11590076	4767	21223										
MCHR1	2847	hgsc.bcm.edu	37	chr22	41075543	41075543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggaggaagacccccttcccAactgcggggcttgcgctccg	13	16	0	1	rs133072	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:41075543A>G	ENST00000249016.4	+	1	790	c.94A>G	c.(94-96)Aac>Gac	p.N32D	MCHR1_ENST00000381433.2_Missense_Mutation_p.N32D|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	32			N -> D (no significant functional differences; dbSNP:rs133072). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15941924, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.8}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCCCCTTCCCAACTGCGGGGC	0.682													G|||	3344	0.667732	0.7209	0.4207	5008	,	,		15490	0.9802		0.6352	False		,,,				2504	0.4826				p.N32D		Atlas-SNP	.											.	MCHR1	45	.	0			c.A94G						PASS	.	G	ASP/ASN	3040,1364	417.2+/-337.8	1071,898,233	28	33	31		94	2	0.8	22	dbSNP_78	31	5469,3129	451.7+/-362.7	1749,1971,579	no	missense	MCHR1	NM_005297.3	23	2820,2869,812	GG,GA,AA		36.3922,30.9718,34.5562	benign	32/423	41075543	8509,4493	2202	4299	6501	SO:0001583	missense	2847	exon1			CTTCCCAACTGCG		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.94A>G	22.37:g.41075543A>G	ENSP00000249016:p.Asn32Asp	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_005297	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	CCDS14004.1	1555	0.711996336996337	359	0.7296747967479674	160	0.4419889502762431	565	0.9877622377622378	471	0.6213720316622692	G	2.184	-0.386845	0.04966	0.690282	0.636078	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.62498	0.02;0.56	4.54	2.02	0.26589	.	0.162163	0.29307	N	0.012529	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	9	0.02654	T	1	.	5.5049	0.16848	0.4112:0.0:0.5888:0.0	rs133072;rs17844921;rs17856632;rs17857645;rs60741563;rs133072	32	Q99705	MCHR1_HUMAN	D	32	ENSP00000249016:N32D;ENSP00000370841:N32D	ENSP00000249016:N32D	N	+	1	0	MCHR1	39405489	0.925000	0.31364	0.778000	0.31720	0.538000	0.34931	2.486000	0.45259	0.487000	0.27698	-0.320000	0.08662	AAC	A|0.330;G|0.670	0.670	strong		0.682	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		G	41075543	A	G	41075543	3	3	23	1	0	0	0	0	1	0	0	0	9382	130	5	2	96	2	MCHR1	22	41075543	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1361053	41075543	10229023	4768	21224										
EP300	2033	hgsc.bcm.edu	37	chr22	41546158	41546158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagcacagcagcgtctgttCctaccccaacagcaccgctg	9	16	1	1	rs148884710	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:41546158C>A	ENST00000263253.7	+	14	3992	c.2773C>A	c.(2773-2775)Cct>Act	p.P925T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	925					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P925T(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCGTCTGTTCCTACCCCAAC	0.522			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				C|||	8	0.00159744	0.0	0.0014	5008	,	,		20472	0.0		0.007	False		,,,				2504	0.0				p.P925T		Atlas-SNP	.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	EP300,NS,lymphoid_neoplasm,0,1	EP300	367	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C2773A						PASS	.	C	THR/PRO	10,4394	16.8+/-37.8	0,10,2192	64	48	53		2773	3.8	0.9	22	dbSNP_134	53	55,8545	35.3+/-89.8	3,49,4248	yes	missense	EP300	NM_001429.3	38	3,59,6440	AA,AC,CC		0.6395,0.2271,0.4998	benign	925/2415	41546158	65,12939	2202	4300	6502	SO:0001583	missense	2033	exon14	Familial Cancer Database	Broad Thumb-Hallux syndrome	TCTGTTCCTACCC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2773C>A	22.37:g.41546158C>A	ENSP00000263253:p.Pro925Thr	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	58	33	0.568965	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	13.29	2.193769	0.38707	0.002271	0.006395	ENSG00000100393	ENST00000263253	D	0.83992	-1.79	5.92	3.85	0.44370	.	0.135740	0.33401	N	0.004949	T	0.68183	0.2973	L	0.47716	1.5	0.35741	D	0.818666	B	0.13594	0.008	B	0.16722	0.016	T	0.67608	-0.5627	10	0.22706	T	0.39	-8.5427	8.0505	0.30575	0.0:0.7318:0.1307:0.1375	.	925	Q09472	EP300_HUMAN	T	925	ENSP00000263253:P925T	ENSP00000263253:P925T	P	+	1	0	EP300	39876104	0.960000	0.32886	0.934000	0.37439	0.957000	0.61999	1.349000	0.33998	0.859000	0.35456	-0.373000	0.07131	CCT	C|0.995;A|0.005	0.005	strong		0.522	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41546158	C	A	41546158	3	1	23	1	0	0	0	0	1	0	0	0	5148	855	30	4	2827	4	EP300	22	41546158	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	470615	41546158	9758408	4769	21225										
NDUFA6	4700	hgsc.bcm.edu	37	chr22	42486723	42486723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgctggcggtagaagtaGcttggcggacgccgctcccc	16	12	0	1	rs1801311	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:42486723G>A	ENST00000498737.2	-	1	236	c.104C>T	c.(103-105)gCt>gTt	p.A35V	NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|RP1-257I20.14_ENST00000602718.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6_ENST00000602404.1_Missense_Mutation_p.A9V|NDUFA6-AS1_ENST00000608974.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	35			A -> V (in dbSNP:rs1801311). {ECO:0000269|PubMed:14702039}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GGTAGAAGTAGCTTGGCGGAC	0.632													G|||	1772	0.353834	0.5371	0.3271	5008	,	,		15164	0.1508		0.335	False		,,,				2504	0.3538				p.A35V		Atlas-SNP	.											.	NDUFA6	13	.	0			c.C104T						PASS	.	G	VAL/ALA	2174,2232	583.2+/-385.8	537,1100,566	88	90	90		104	2.4	0.1	22	dbSNP_89	90	2889,5711	453.3+/-363.2	506,1877,1917	yes	missense	NDUFA6	NM_002490.3	64	1043,2977,2483	AA,AG,GG		33.593,49.3418,38.9282	benign	35/155	42486723	5063,7943	2203	4300	6503	SO:0001583	missense	4700	exon1			GAAGTAGCTTGGC	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.104C>T	22.37:g.42486723G>A	ENSP00000418842:p.Ala35Val	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	104	100	0.961538	NM_002490	B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Missense_Mutation	SNP	ENST00000498737.2	37	CCDS33656.1	731	0.3347069597069597	270	0.5487804878048781	115	0.31767955801104975	95	0.1660839160839161	251	0.3311345646437995	G	16.70	3.196846	0.58126	0.493418	0.33593	ENSG00000184983	ENST00000498737	T	0.69685	-0.42	5.64	2.39	0.29439	.	0.213179	0.49916	D	0.000138	T	0.00012	0.0000	N	0.12569	0.235	0.25870	P	0.9837283	B	0.17852	0.024	B	0.10450	0.005	T	0.44967	-0.9293	9	0.48119	T	0.1	-3.0867	5.8599	0.18740	0.2233:0.1494:0.6273:0.0	rs1801311;rs57054953;rs1801311	35	P56556	NDUA6_HUMAN	V	35	ENSP00000418842:A35V	ENSP00000418842:A35V	A	-	2	0	NDUFA6	40816669	0.974000	0.33945	0.066000	0.19879	0.009000	0.06853	1.568000	0.36418	0.720000	0.32209	0.655000	0.94253	GCT	G|0.625;A|0.375	0.375	strong		0.632	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		A	42486723	G	A	42486723	3	1	23	1	0	0	0	0	1	0	0	0	10269	971	34	2	372	2	NDUFA6	22	42486723	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	940565	42486723	8817843	4770	21226										
CYP2D6	1565	hgsc.bcm.edu	37	chr22	42525089	42525089	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggcctcctcggtcacccactGctccagcgacttcttgccca	8	19	2	0	rs78482768	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:42525089G>C	ENST00000360608.5	-	3	565	c.451C>G	c.(451-453)Cag>Gag	p.Q151E	CYP2D6_ENST00000389970.3_Missense_Mutation_p.Q151E|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	151					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTCACCCACTGCTCCAGCGAC	0.677													G|||	6	0.00119808	0.0	0.0014	5008	,	,		16419	0.0		0.005	False		,,,				2504	0.0				p.Q151E		Atlas-SNP	.											.	CYP2D6	104	.	0			c.C451G						PASS	.	G	GLU/GLN,	5,4131		0,5,2063	19	23	22		451,	2	1	22	dbSNP_131	22	28,8350		1,26,4162	no	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	29,	1,31,6225	CC,CG,GG		0.3342,0.1209,0.2637	benign,	151/498,	42525089	33,12481	2068	4189	6257	SO:0001583	missense	1565	exon3			CCCACTGCTCCAG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.451C>G	22.37:g.42525089G>C	ENSP00000353820:p.Gln151Glu	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	102	52	0.509804	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.841892	0.00573	0.001209	0.003342	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.77877	-1.13;-1.13	4.18	1.97	0.26223	.	0.756605	0.11656	N	0.542295	T	0.52008	0.1708	N	0.11341	0.13	0.22684	N	0.998852	B	0.10296	0.003	B	0.08055	0.003	T	0.38929	-0.9638	10	0.02654	T	1	.	6.6787	0.23108	0.1016:0.3458:0.5526:0.0	.	151	Q6NWU0	.	E	151;151;100	ENSP00000353820:Q151E;ENSP00000374620:Q151E	ENSP00000353820:Q151E	Q	-	1	0	CYP2D6	40855033	0.005000	0.15991	0.998000	0.56505	0.063000	0.16089	0.273000	0.18662	0.442000	0.26555	0.305000	0.20034	CAG	G|1.000;|0.000	.	weak		0.677	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			C	42525089	G	C	42525089	3	2	23	1	0	0	0	0	1	0	0	0	4169	1328	46	4	1070	4	CYP2D6	22	42525089	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	38366	42525089	8779477	4771	21227										
CYP2D6	1565	hgsc.bcm.edu	37	chr22	42526775	42526775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactatcacggccaggggcaCcagtgcttctagccccatac	9	16	2	0	rs72549358	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:42526775C>T	ENST00000360608.5	-	1	133	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	CYP2D6_ENST00000389970.3_Missense_Mutation_p.V7M|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.V7M|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	7					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCCAGGGGCACCAGTGCTTCT	0.652													C|||	6	0.00119808	0.0	0.0014	5008	,	,		19268	0.0		0.005	False		,,,				2504	0.0				p.V7M		Atlas-SNP	.											.	CYP2D6	104	.	0			c.G19A						PASS	.	C	MET/VAL,MET/VAL	6,4376		0,6,2185	37	37	37		19,19	0.1	0	22	dbSNP_130	37	27,8549		0,27,4261	no	missense,missense	CYP2D6	NM_001025161.1,NM_000106.4	21,21	0,33,6446	TT,TC,CC		0.3148,0.1369,0.2547	benign,benign	7/447,7/498	42526775	33,12925	2191	4288	6479	SO:0001583	missense	1565	exon1			GGGGCACCAGTGC	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.19G>A	22.37:g.42526775C>T	ENSP00000353820:p.Val7Met	Somatic	308	1	0.00324675		WXS	Illumina HiSeq	Phase_I	289	154	0.532872	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	1.817	-0.473201	0.04445	0.001369	0.003148	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000359033	T;T;T	0.37058	1.22;1.22;1.22	3.46	0.0648	0.14354	.	3.717790	0.00802	N	0.001421	T	0.18964	0.0455	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.002	T	0.12578	-1.0542	10	0.34782	T	0.22	.	2.8284	0.05491	0.2852:0.448:0.0:0.2668	.	7;7	Q6NXU8;Q6NWU0	.;.	M	7	ENSP00000353820:V7M;ENSP00000374620:V7M;ENSP00000351927:V7M	ENSP00000351927:V7M	V	-	1	0	CYP2D6	40856719	0.001000	0.12720	0.013000	0.15412	0.004000	0.04260	-0.451000	0.06795	0.050000	0.15949	-0.350000	0.07774	GTG	C|0.996;T|0.004	0.004	strong		0.652	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42526775	C	T	42526775	3	4	23	1	0	0	0	0	1	0	0	0	4169	507	18	2	1510	2	CYP2D6	22	42526775	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1686	42526775	8777791	4772	21228										
TTLL12	23170	hgsc.bcm.edu	37	chr22	43579083	43579083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctgctgcttccgcacctcccGggctgcctcgtcctcctcct	8	21	0	0	rs138951	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:43579083G>A	ENST00000216129.6	-	2	313	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	84			R -> W (in dbSNP:rs138951).		cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CGCACCTCCCGGGCTGCCTCG	0.637													G|||	183	0.0365415	0.0038	0.0389	5008	,	,		19228	0.001		0.1302	False		,,,				2504	0.0194				p.R84W		Atlas-SNP	.											.	TTLL12	50	.	0			c.C250T						PASS	.	G	TRP/ARG	103,4303	80.4+/-118.8	0,103,2100	145	142	143		250	-0.8	0	22	dbSNP_78	143	988,7612	213.5+/-253.4	57,874,3369	no	missense	TTLL12	NM_015140.3	101	57,977,5469	AA,AG,GG		11.4884,2.3377,8.3884	probably-damaging	84/645	43579083	1091,11915	2203	4300	6503	SO:0001583	missense	23170	exon2			CCTCCCGGGCTGC	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.250C>T	22.37:g.43579083G>A	ENSP00000216129:p.Arg84Trp	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	214	124	0.579439	NM_015140	Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	CCDS14047.1	122	0.055860805860805864	6	0.012195121951219513	17	0.04696132596685083	3	0.005244755244755245	96	0.1266490765171504	G	9.569	1.120483	0.20877	0.023377	0.114884	ENSG00000100304	ENST00000216129;ENST00000357017;ENST00000423379	T	0.07800	3.16	5.08	-0.805	0.10879	.	1.539810	0.03716	N	0.251140	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	D;P	0.60160	0.987;0.951	B;B	0.42653	0.394;0.394	T	0.15037	-1.0451	9	0.72032	D	0.01	-31.435	2.5325	0.04706	0.144:0.2853:0.3873:0.1834	rs138951;rs52835787;rs138951	84;84	B1AH89;Q14166	.;TTL12_HUMAN	W	84	ENSP00000216129:R84W	ENSP00000216129:R84W	R	-	1	2	TTLL12	41909027	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.346000	0.19997	-0.339000	0.08401	-0.140000	0.14226	CGG	G|0.927;A|0.073	0.073	strong		0.637	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		A	43579083	G	A	43579083	3	1	23	1	0	0	0	0	1	0	0	0	16722	1115	39	1	1736	1	TTLL12	22	43579083	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1052308	43579083	7725483	4773	21229										
SCUBE1	80274	hgsc.bcm.edu	37	chr22	43607040	43607040	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	taggtgccgacggggcagcgGatgcagcggtgggtggtggt	22	7	0	0	rs138988	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:43607040G>A	ENST00000360835.4	-	18	2397	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	757					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGGGGCAGCGGATGCAGCGGT	0.647													G|||	252	0.0503195	0.0552	0.036	5008	,	,		15874	0.0		0.1352	False		,,,				2504	0.0184				p.I757I		Atlas-SNP	.											.	SCUBE1	105	.	0			c.C2271T						PASS	.	G		307,4093	165.4+/-196.9	9,289,1902	172	136	148		2271	1.7	1	22	dbSNP_78	148	976,7622	211.4+/-252.0	53,870,3376	no	coding-synonymous	SCUBE1	NM_173050.3		62,1159,5278	AA,AG,GG		11.3515,6.9773,9.8707		757/989	43607040	1283,11715	2200	4299	6499	SO:0001819	synonymous_variant	80274	exon18			GCAGCGGATGCAG		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2271C>T	22.37:g.43607040G>A		Somatic	483	1	0.00207039		WXS	Illumina HiSeq	Phase_I	446	208	0.466368	NM_173050	Q5R336	Silent	SNP	ENST00000360835.4	37	CCDS14048.1																																																																																			G|0.910;A|0.090	0.090	strong		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43607040	G	A	43607040	2	1	23	1	0	0	0	0	0	0	0	1	13944	1164	41	2		2	SCUBE1	22	43607040	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	27957	43607040	7697526	4774	21230										
SAMM50	25813	hgsc.bcm.edu	37	chr22	44372632	44372632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cattcaaatttctttcagcaCgccatggtcatcgattctcg	6	12	5	0	rs14315	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:44372632C>T	ENST00000350028.4	+	9	937	c.780C>T	c.(778-780)caC>caT	p.H260H	SAMM50_ENST00000396202.3_Silent_p.H50H	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	260					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.H260H(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTTTCAGCACGCCATGGTCA	0.458													C|||	2358	0.470847	0.615	0.3876	5008	,	,		20257	0.4613		0.326	False		,,,				2504	0.4939				p.H260H		Atlas-SNP	.											SAMM50,NS,carcinoma,0,1	SAMM50	30	1	1	Substitution - coding silent(1)	stomach(1)	c.C780T						PASS	.	C		2472,1934	622.5+/-394.0	699,1074,430	117	99	106		780	-5.6	0.9	22	dbSNP_52	106	2330,6270	388.2+/-342.5	329,1672,2299	no	coding-synonymous	SAMM50	NM_015380.4		1028,2746,2729	TT,TC,CC		27.093,43.8947,36.9214		260/470	44372632	4802,8204	2203	4300	6503	SO:0001819	synonymous_variant	25813	exon9			TCAGCACGCCATG	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.780C>T	22.37:g.44372632C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	159	66	0.415094	NM_015380	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	CCDS14055.1																																																																																			.	.	weak		0.458	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		T	44372632	C	T	44372632	2	4	23	1	0	0	0	0	0	0	0	1	13829	535	19	1		1	SAMM50	22	44372632	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	765592	44372632	6931934	4775	21231										
FAM118A	55007	hgsc.bcm.edu	37	chr22	45719125	45719125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gttatcgggactggcgtcagCgcagcagtggcccccggaat	15	12	1	0	rs138980075	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:45719125C>T	ENST00000216214.3	+	4	951	c.117C>T	c.(115-117)agC>agT	p.S39S	FAM118A_ENST00000441876.2_Silent_p.S39S|FAM118A_ENST00000405673.1_Silent_p.S39S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	39						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTGGCGTCAGCGCAGCAGTGG	0.572													C|||	10	0.00199681	0.0	0.0014	5008	,	,		17209	0.0		0.006	False		,,,				2504	0.0031				p.S39S		Atlas-SNP	.											.	FAM118A	32	.	0			c.C117T						PASS	.	C	,	2,4404	4.2+/-10.8	0,2,2201	44	49	47		117,117	-11.3	0	22	dbSNP_134	47	36,8564	23.4+/-69.3	0,36,4264	no	coding-synonymous,coding-synonymous	FAM118A	NM_001104595.1,NM_017911.2	,	0,38,6465	TT,TC,CC		0.4186,0.0454,0.2922	,	39/358,39/358	45719125	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	55007	exon3			CGTCAGCGCAGCA	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.117C>T	22.37:g.45719125C>T		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	175	83	0.474286	NM_017911	B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																			C|0.997;T|0.003	0.003	strong		0.572	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		T	45719125	C	T	45719125	2	4	23	1	0	0	0	0	0	0	0	1	5411	767	27	1		1	FAM118A	22	45719125	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1346493	45719125	5585441	4776	21232										
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46652737	46652737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaaataagttgatcaagacGcagatcatcaccagcatgaa	8	8	3	5	rs6008362	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46652737G>A	ENST00000253255.5	-	1	6482	c.6483C>T	c.(6481-6483)tgC>tgT	p.C2161C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2161					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)		TGATCAAGACGCAGATCATCA	0.438													G|||	1202	0.240016	0.6604	0.1297	5008	,	,		22415	0.001		0.16	False		,,,				2504	0.0787				p.C2161C		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C6483T						PASS	.	G		2569,1837	635.7+/-396.4	749,1071,383	68	65	66		6483	-2.1	0.2	22	dbSNP_114	66	1256,7344	251.2+/-277.8	88,1080,3132	no	coding-synonymous	PKDREJ	NM_006071.1		837,2151,3515	AA,AG,GG		14.6047,41.6931,29.4095		2161/2254	46652737	3825,9181	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			CAAGACGCAGATC	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.6483C>T	22.37:g.46652737G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	129	70	0.542636	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.737;A|0.263	0.263	strong		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46652737	G	A	46652737	2	1	23	1	0	0	0	0	0	0	0	1	11970	1079	38	1		1	PKDREJ	22	46652737	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	933612	46652737	4651829	4777	21233			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46652929	46652929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atgtatacgaagaaatacacGgacacaacaaatgccatgtg	8	8	0	1	rs6008365	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46652929G>A	ENST00000253255.5	-	1	6290	c.6291C>T	c.(6289-6291)tcC>tcT	p.S2097S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2097					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)		AGAAATACACGGACACAACAA	0.483													G|||	1213	0.242212	0.6604	0.1297	5008	,	,		21491	0.002		0.16	False		,,,				2504	0.089				p.S2097S		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C6291T						PASS	.	G		2567,1839	627.1+/-394.8	748,1071,384	42	42	42		6291	-3.4	0	22	dbSNP_114	42	1257,7343	249.0+/-276.5	88,1081,3131	no	coding-synonymous	PKDREJ	NM_006071.1		836,2152,3515	AA,AG,GG		14.6163,41.7385,29.4018		2097/2254	46652929	3824,9182	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			ATACACGGACACA	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.6291C>T	22.37:g.46652929G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	35	0.492958	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.739;A|0.261	0.261	strong		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46652929	G	A	46652929	2	1	23	1	0	0	0	0	0	0	0	1	11970	1103	39	1		1	PKDREJ	22	46652929	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	192	46652929	4651637	4778	21234			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46652959	46652959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatgccatgtggcagatgccAgggagggcagcctggatggc	17	9	0	1	rs4508712	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46652959A>G	ENST00000253255.5	-	1	6260	c.6261T>C	c.(6259-6261)ccT>ccC	p.P2087P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2087					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)		GGCAGATGCCAGGGAGGGCAG	0.478													G|||	1855	0.370407	0.9244	0.2147	5008	,	,		20978	0.0516		0.2893	False		,,,				2504	0.1442				p.P2087P		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T6261C						PASS	.	G		3673,733	287.8+/-279.5	1544,585,74	36	40	38		6261	-11.8	0	22	dbSNP_111	38	2476,6124	689.2+/-404.3	354,1768,2178	no	coding-synonymous	PKDREJ	NM_006071.1		1898,2353,2252	GG,GA,AA		28.7907,16.6364,47.2782		2087/2254	46652959	6149,6857	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			GATGCCAGGGAGG	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.6261T>C	22.37:g.46652959A>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	56	22	0.392857	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.593;G|0.407;T|0.000	0.407	strong		0.478	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46652959	A	G	46652959	2	3	23	1	0	0	0	0	0	0	0	1	11970	175	7	3		3	PKDREJ	22	46652959	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	30	46652959	4651607	4779	21235			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46655779	46655779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggtgaatgcccgtgagtccGattgtgcccagctgccgcct	13	13	0	2	rs36125344	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46655779G>C	ENST00000253255.5	-	1	3440	c.3441C>G	c.(3439-3441)atC>atG	p.I1147M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1147			I -> M (in dbSNP:rs36125344).		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)		CCGTGAGTCCGATTGTGCCCA	0.507													G|||	319	0.0636981	0.0802	0.0663	5008	,	,		20273	0.001		0.1233	False		,,,				2504	0.0429				p.I1147M		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C3441G						PASS	.	G	MET/ILE	337,4069	177.3+/-206.3	19,299,1885	184	160	168		3441	-8.8	0	22	dbSNP_126	168	905,7695	202.5+/-245.8	52,801,3447	yes	missense	PKDREJ	NM_006071.1	10	71,1100,5332	CC,CG,GG		10.5233,7.6487,9.5494	benign	1147/2254	46655779	1242,11764	2203	4300	6503	SO:0001583	missense	10343	exon1			GAGTCCGATTGTG	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.3441C>G	22.37:g.46655779G>C	ENSP00000253255:p.Ile1147Met	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	74	37	0.5	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	164	0.07509157509157509	36	0.07317073170731707	31	0.0856353591160221	0	0.0	97	0.1279683377308707	G	3.363	-0.130048	0.06753	0.076487	0.105233	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.38	-8.75	0.00834	GPS domain (1);	13.660900	0.00166	N	0.000001	T	0.00241	0.0007	L	0.36672	1.1	0.80722	P	0.0	B	0.17465	0.022	B	0.06405	0.002	T	0.04178	-1.0971	9	0.32370	T	0.25	-0.189	2.8003	0.05412	0.1299:0.3542:0.1808:0.3351	rs36125344	1147	Q9NTG1	PKDRE_HUMAN	M	1147	ENSP00000253255:I1147M	ENSP00000253255:I1147M	I	-	3	3	PKDREJ	45034443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.473000	0.00459	-3.170000	0.00225	-1.036000	0.02392	ATC	G|0.912;C|0.088	0.088	strong		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		C	46655779	G	C	46655779	3	2	23	1	0	0	0	0	1	0	0	0	11970	1048	37	4	3324	4	PKDREJ	22	46655779	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2820	46655779	4648787	4780	21236			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656479	46656479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatcatttaaccaaggaaagAggtcatttgtgaaatcacaa	8	6	3	2	rs6519993	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46656479A>G	ENST00000253255.5	-	1	2740	c.2741T>C	c.(2740-2742)cTc>cCc	p.L914P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	914			L -> P (in dbSNP:rs6519993).		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)		CCAAGGAAAGAGGTCATTTGT	0.418													G|||	1229	0.245407	0.6785	0.134	5008	,	,		22048	0.001		0.16	False		,,,				2504	0.0787				p.L914P		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T2741C						PASS	.	G	PRO/LEU	2650,1756	517.3+/-369.4	793,1064,346	106	111	109		2741	5.3	1	22	dbSNP_116	109	1256,7344	758.5+/-407.5	88,1080,3132	yes	missense	PKDREJ	NM_006071.1	98	881,2144,3478	GG,GA,AA		14.6047,39.8547,30.0323	benign	914/2254	46656479	3906,9100	2203	4300	6503	SO:0001583	missense	10343	exon1			GGAAAGAGGTCAT	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.2741T>C	22.37:g.46656479A>G	ENSP00000253255:p.Leu914Pro	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	107	52	0.485981	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	477	0.2184065934065934	309	0.6280487804878049	55	0.15193370165745856	0	0.0	113	0.14907651715039577	G	1.467	-0.560725	0.03939	0.601453	0.146047	ENSG00000130943	ENST00000253255	T	0.30714	1.52	5.33	5.33	0.75918	.	0.307994	0.28398	N	0.015492	T	0.00012	0.0000	N	0.00392	-1.555	0.30026	P	0.813909	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	-28.6325	13.3236	0.60447	0.0774:0.0:0.9226:0.0	rs6519993;rs52835982;rs61529203;rs6519993	914	Q9NTG1	PKDRE_HUMAN	P	914	ENSP00000253255:L914P	ENSP00000253255:L914P	L	-	2	0	PKDREJ	45035143	1.000000	0.71417	0.965000	0.40720	0.372000	0.29890	4.073000	0.57570	1.411000	0.46957	-0.119000	0.15052	CTC	A|0.724;G|0.276	0.276	strong		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656479	A	G	46656479	3	3	23	1	0	0	0	0	1	0	0	0	11970	304	11	3	4024	3	PKDREJ	22	46656479	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	700	46656479	4648087	4781	21237			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656511	46656511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaatcacaaaacattgtagaAatgggaccatttgcagacag	8	7	1	2	rs9627324	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46656511A>G	ENST00000253255.5	-	1	2708	c.2709T>C	c.(2707-2709)atT>atC	p.I903I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	903	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		ACATTGTAGAAATGGGACCAT	0.408													A|||	1229	0.245407	0.6785	0.134	5008	,	,		21872	0.001		0.16	False		,,,				2504	0.0787				p.I903I		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T2709C						PASS	.	A		2655,1751	638.7+/-397.0	794,1067,342	97	100	99		2709	-10.7	0	22	dbSNP_119	99	1259,7341	250.5+/-277.4	88,1083,3129	no	coding-synonymous	PKDREJ	NM_006071.1		882,2150,3471	GG,GA,AA		14.6395,39.7413,30.0938		903/2254	46656511	3914,9092	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			TGTAGAAATGGGA	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.2709T>C	22.37:g.46656511A>G		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	135	65	0.481481	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.733;G|0.267	0.267	strong		0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656511	A	G	46656511	2	3	23	1	0	0	0	0	0	0	0	1	11970	10	1	2		2	PKDREJ	22	46656511	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	32	46656511	4648055	4782	21238			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656607	46656607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatttctgaagagctggttGataccccacttttcaacttt	6	10	3	3	rs8143066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46656607G>A	ENST00000253255.5	-	1	2612	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	871	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		AGAGCTGGTTGATACCCCACT	0.413													A|||	1229	0.245407	0.6785	0.134	5008	,	,		20155	0.001		0.16	False		,,,				2504	0.0787				p.I871I		Atlas-SNP	.											.	PKDREJ	195	.	0			c.C2613T						PASS	.	A		2654,1752	520.9+/-370.4	793,1068,342	70	70	70		2613	-1.7	0	22	dbSNP_116	70	1260,7340	760.1+/-407.6	88,1084,3128	no	coding-synonymous	PKDREJ	NM_006071.1		881,2152,3470	AA,AG,GG		14.6512,39.764,30.0938		871/2254	46656607	3914,9092	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			CTGGTTGATACCC	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.2613C>T	22.37:g.46656607G>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	133	67	0.503759	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.722;A|0.278	0.278	strong		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656607	G	A	46656607	2	1	23	1	0	0	0	0	0	0	0	1	11970	1280	45	2		2	PKDREJ	22	46656607	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	96	46656607	4647959	4783	21239			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46656805	46656805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attagtattccagtactcacGatttctatttgttcagatcg	6	8	3	1	rs6519994	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46656805G>A	ENST00000253255.5	-	1	2414	c.2415C>T	c.(2413-2415)atC>atT	p.I805I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	805	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		CAGTACTCACGATTTCTATTT	0.368													G|||	1190	0.23762	0.6505	0.1297	5008	,	,		20491	0.001		0.161	False		,,,				2504	0.0787				p.I805I		Atlas-SNP	.											PKDREJ,caecum,carcinoma,0,1	PKDREJ	195	1	0			c.C2415T						PASS	.	G		2514,1890	617.9+/-393.1	710,1094,398	66	72	70		2415	-10.2	0	22	dbSNP_116	70	1254,7346	249.2+/-276.5	88,1078,3134	no	coding-synonymous	PKDREJ	NM_006071.1		798,2172,3532	AA,AG,GG		14.5814,42.9155,28.9757		805/2254	46656805	3768,9236	2202	4300	6502	SO:0001819	synonymous_variant	10343	exon1			ACTCACGATTTCT	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.2415C>T	22.37:g.46656805G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	171	69	0.403509	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			G|0.732;A|0.268	0.268	strong		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656805	G	A	46656805	2	1	23	1	0	0	0	0	0	0	0	1	11970	1048	37	1		1	PKDREJ	22	46656805	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	198	46656805	4647761	4784	21240			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46657261	46657261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagaaaaagctcctagagaAtcatagacctgggcatatat	9	7	1	3	rs6007747	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46657261A>G	ENST00000253255.5	-	1	1958	c.1959T>C	c.(1957-1959)gaT>gaC	p.D653D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	653	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		CTCCTAGAGAATCATAGACCT	0.463													G|||	1229	0.245407	0.6785	0.134	5008	,	,		15446	0.001		0.16	False		,,,				2504	0.0787				p.D653D		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T1959C						PASS	.	G		2648,1758		791,1066,346	67	74	72		1959	0.8	0.4	22	dbSNP_114	72	1257,7343		90,1077,3133	no	coding-synonymous	PKDREJ	NM_006071.1		881,2143,3479	GG,GA,AA		14.6163,39.9001,30.0246		653/2254	46657261	3905,9101	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			TAGAGAATCATAG	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.1959T>C	22.37:g.46657261A>G		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	57	25	0.438596	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.721;G|0.279	0.279	strong		0.463	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46657261	A	G	46657261	2	3	23	1	0	0	0	0	0	0	0	1	11970	98	4	2		2	PKDREJ	22	46657261	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	456	46657261	4647305	4785	21241			20	89		10	10	5062	N	G_A	1.505934e-07
PKDREJ	10343	hgsc.bcm.edu	37	chr22	46657798	46657798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttaggaacaaagaaaatctAtcagagacaatgaagtttct	7	5	3	3	rs6007748	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46657798A>G	ENST00000253255.5	-	1	1421	c.1422T>C	c.(1420-1422)gaT>gaC	p.D474D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	474	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		AAGAAAATCTATCAGAGACAA	0.393													A|||	1198	0.239217	0.6558	0.1326	5008	,	,		18300	0.001		0.16	False		,,,				2504	0.0787				p.D474D		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T1422C						PASS	.	A		2538,1868	631.6+/-395.7	719,1100,384	98	103	101		1422	-7	0	22	dbSNP_114	101	1255,7345	250.8+/-277.5	87,1081,3132	no	coding-synonymous	PKDREJ	NM_006071.1		806,2181,3516	GG,GA,AA		14.593,42.3967,29.1635		474/2254	46657798	3793,9213	2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			AAATCTATCAGAG	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.1422T>C	22.37:g.46657798A>G		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	96	49	0.510417	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			A|0.737;G|0.263	0.263	strong		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46657798	A	G	46657798	2	3	23	1	0	0	0	0	0	0	0	1	11970	446	16	2		2	PKDREJ	22	46657798	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	537	46657798	4646768	4786	21242			20	89		10	10	5062	N	G_A	1.505934e-07
TTC38	55020	hgsc.bcm.edu	37	chr22	46685380	46685380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gccctggtggaggctgaggaCgggaaccctgaccgcgtcct	16	13	0	2	rs11705624	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46685380C>T	ENST00000381031.3	+	12	1240	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	TTC38_ENST00000445282.2_Silent_p.D330D	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	388						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGGCTGAGGACGGGAACCCTG	0.692													C|||	204	0.0407348	0.0083	0.0576	5008	,	,		14688	0.001		0.1193	False		,,,				2504	0.0327				p.D388D		Atlas-SNP	.											.	TTC38	40	.	0			c.C1164T						PASS	.	C		82,4088		1,80,2004	28	36	33		1164	-6.7	0	22	dbSNP_120	33	867,7541		48,771,3385	no	coding-synonymous	TTC38	NM_017931.2		49,851,5389	TT,TC,CC		10.3116,1.9664,7.5449		388/470	46685380	949,11629	2085	4204	6289	SO:0001819	synonymous_variant	55020	exon12			TGAGGACGGGAAC		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1164C>T	22.37:g.46685380C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	108	58	0.537037	NM_017931	Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	CCDS43030.1																																																																																			C|0.932;T|0.068	0.068	strong		0.692	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		T	46685380	C	T	46685380	2	4	23	1	0	0	0	0	0	0	0	1	16703	535	19	1		1	TTC38	22	46685380	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	27582	46685380	4619186	4787	21243										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46704243	46704243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaagatgatgaagtcttcttCggaccctttggacataaaga	10	7	2	4	rs6008598	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46704243C>T	ENST00000454366.1	+	4	377	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	36					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAGTCTTCTTCGGACCCTTTG	0.388													C|||	750	0.14976	0.3858	0.0951	5008	,	,		17943	0.002		0.1302	False		,,,				2504	0.0419				p.F55F	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.C165T						PASS	.	C		1512,2894	479.0+/-358.4	277,958,968	92	100	97		165	0.7	0.9	22	dbSNP_114	97	957,7643	208.9+/-250.2	53,851,3396	no	coding-synonymous	GTSE1	NM_016426.6		330,1809,4364	TT,TC,CC		11.1279,34.3168,18.9835		55/740	46704243	2469,10537	2203	4300	6503	SO:0001819	synonymous_variant	51512	exon4			CTTCTTCGGACCC	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.165C>T	22.37:g.46704243C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	58	35	0.603448	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																			C|0.821;T|0.179	0.179	strong		0.388	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		T	46704243	C	T	46704243	2	4	23	1	0	0	0	0	0	0	0	1	6885	883	31	1		1	GTSE1	22	46704243	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	18863	46704243	4600323	4788	21244										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46712077	46712077	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctggcaggccaagcgggtCgatgtttctgagctggcagc	15	11	1	1	rs9615947	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46712077C>T	ENST00000454366.1	+	7	1412	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	381					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCAAGCGGGTCGATGTTTCTG	0.657													C|||	203	0.0405351	0.0038	0.0576	5008	,	,		12399	0.003		0.1223	False		,,,				2504	0.0327				p.V400V	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.C1200T						PASS	.	C		82,4324		2,78,2123	32	36	35		1200	-7.1	0	22	dbSNP_119	35	900,7696		48,804,3446	no	coding-synonymous	GTSE1	NM_016426.6		50,882,5569	TT,TC,CC		10.47,1.8611,7.5527		400/740	46712077	982,12020	2203	4298	6501	SO:0001819	synonymous_variant	51512	exon7			GCGGGTCGATGTT	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1200C>T	22.37:g.46712077C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	91	34	0.373626	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																			C|0.933;T|0.067	0.067	strong		0.657	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		T	46712077	C	T	46712077	2	4	23	1	0	0	0	0	0	0	0	1	6885	871	31	1		1	GTSE1	22	46712077	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7834	46712077	4592489	4789	21245										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46719100	46719100	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacttaggtgactccccggaCagctcaacaccaaagctttc	8	14	1	1	rs6008684	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46719100C>G	ENST00000454366.1	+	8	1658	c.1446C>G	c.(1444-1446)gaC>gaG	p.D482E		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	463					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ACTCCCCGGACAGCTCAACAC	0.557													C|||	573	0.114417	0.2791	0.0692	5008	,	,		20772	0.001		0.1223	False		,,,				2504	0.0327				p.D482E	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.C1446G						PASS	.	C	GLU/ASP	1138,3268	405.8+/-333.6	152,834,1217	158	146	150		1446	-4.4	0	22	dbSNP_114	150	953,7647	208.4+/-249.9	55,843,3402	yes	missense	GTSE1	NM_016426.6	45	207,1677,4619	GG,GC,CC		11.0814,25.8284,16.0772	possibly-damaging	482/740	46719100	2091,10915	2203	4300	6503	SO:0001583	missense	51512	exon8			CCCGGACAGCTCA	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1446C>G	22.37:g.46719100C>G	ENSP00000415430:p.Asp482Glu	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	165	80	0.484848	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	263	0.12042124542124542	135	0.27439024390243905	32	0.08839779005524862	0	0.0	96	0.1266490765171504	C	4.984	0.182775	0.09495	0.258284	0.110814	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06142	3.34	3.31	-4.36	0.03645	.	1.514080	0.03735	N	0.254078	T	0.00012	0.0000	M	0.66939	2.045	0.80722	P	0.0	B;B	0.25609	0.007;0.13	B;B	0.22880	0.028;0.042	T	0.42832	-0.9428	9	0.49607	T	0.09	0.0	3.1854	0.06599	0.2794:0.2923:0.0:0.4283	rs6008684;rs6008684	463;442	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	E	482;442	ENSP00000415430:D482E	ENSP00000354634:D442E	D	+	3	2	GTSE1	45097764	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.322000	0.08007	-0.816000	0.04340	0.313000	0.20887	GAC	C|0.856;G|0.144	0.144	strong		0.557	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		G	46719100	C	G	46719100	3	3	23	1	0	0	0	0	1	0	0	0	6885	477	17	4	1472	4	GTSE1	22	46719100	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	7023	46719100	4585466	4790	21246										
GTSE1	51512	hgsc.bcm.edu	37	chr22	46722531	46722531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cggagacgttcctctgagccCcgcaagaactctgcaatgag	11	13	2	4	rs9615949	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46722531C>T	ENST00000454366.1	+	9	1916	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	549					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTCTGAGCCCCGCAAGAACT	0.567													C|||	233	0.0465256	0.0287	0.0562	5008	,	,		17060	0.001		0.1223	False		,,,				2504	0.0327				p.P568P	GBM(153;542 1915 12487 29016 50495)	Atlas-SNP	.											.	GTSE1	100	.	0			c.C1704T						PASS	.	C		150,4256	103.4+/-141.9	2,146,2055	52	48	49		1704	2.4	0.8	22	dbSNP_119	49	914,7686	200.7+/-244.4	48,818,3434	no	coding-synonymous	GTSE1	NM_016426.6		50,964,5489	TT,TC,CC		10.6279,3.4044,8.1808		568/740	46722531	1064,11942	2203	4300	6503	SO:0001819	synonymous_variant	51512	exon9			TGAGCCCCGCAAG	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1704C>T	22.37:g.46722531C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	68	38	0.558824	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																			C|0.928;T|0.072	0.072	strong		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		T	46722531	C	T	46722531	2	4	23	1	0	0	0	0	0	0	0	1	6885	610	22	2		2	GTSE1	22	46722531	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3431	46722531	4582035	4791	21247										
TRMU	55687	hgsc.bcm.edu	37	chr22	46731689	46731689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccttgcggcacgtcgtgtgcGccctgtccggcggcgtggac	16	15	0	0	rs11090865	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46731689G>T	ENST00000290846.4	+	1	368	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	TRMU_ENST00000381019.3_Missense_Mutation_p.A10S|TRMU_ENST00000424260.2_5'Flank	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	10			A -> S (decreased activity; dbSNP:rs11090865). {ECO:0000269|PubMed:16826519, ECO:0000269|PubMed:19732863}.		tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CGTCGTGTGCGCCCTGTCCGG	0.751													G|||	529	0.105631	0.2436	0.0692	5008	,	,		10046	0.001		0.1223	False		,,,				2504	0.0358				p.A10S		Atlas-SNP	.											.	TRMU	23	.	0			c.G28T	GRCh37	CM063224	TRMU	M	rs11090865	PASS	.	G	SER/ALA	847,3317		81,685,1316	7	9	8	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	28	4.5	1	22	dbSNP_120	8	805,7339		37,731,3304	yes	missense	TRMU	NM_018006.4	99	118,1416,4620	TT,TG,GG		9.8846,20.341,13.4222	probably-damaging	10/422	46731689	1652,10656	2082	4072	6154	SO:0001583	missense	55687	exon1			GTGTGCGCCCTGT	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.28G>T	22.37:g.46731689G>T	ENSP00000290846:p.Ala10Ser	Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	17	9	0.529412	NM_018006	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	CCDS14075.1	237	0.10851648351648352	111	0.22560975609756098	32	0.08839779005524862	0	0.0	94	0.12401055408970976	G	34	5.364808	0.95877	0.20341	0.098846	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.68479	-0.33;-0.33	4.49	4.49	0.54785	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.00178	0.0005	H	0.94345	3.525	0.09310	P	1.0	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.981;0.968;0.994	T	0.02437	-1.1159	9	0.87932	D	0	-6.6109	16.1042	0.81209	0.0:0.0:1.0:0.0	rs11090865;rs11090865	10;10;10	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	S	10	ENSP00000290846:A10S;ENSP00000370407:A10S	ENSP00000290846:A10S	A	+	1	0	TRMU	45110353	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.674000	0.83992	2.308000	0.77769	0.467000	0.42956	GCC	G|0.890;T|0.110	0.110	strong		0.751	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		T	46731689	G	T	46731689	3	4	23	1	0	0	0	0	1	0	0	0	16568	1087	38	4	30	4	TRMU	22	46731689	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	9158	46731689	4572877	4792	21248										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46760481	46760481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctcctggtccggggggtactCtccacggtgactgccctgct	13	15	1	1	rs9615351	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:46760481C>G	ENST00000262738.3	-	33	8706	c.8707G>C	c.(8707-8709)Gag>Cag	p.E2903Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2903			E -> Q (in dbSNP:rs9615351).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGGGTACTCTCCACGGTGA	0.687													C|||	1203	0.240216	0.5492	0.1816	5008	,	,		16369	0.005		0.2455	False		,,,				2504	0.1012				p.E2903Q		Atlas-SNP	.											CELSR1,NS,carcinoma,0,1	CELSR1	242	1	0			c.G8707C						PASS	.	C	GLN/GLU	2305,2093	560.8+/-380.6	594,1117,488	31	36	34		8707	-1.8	0	22	dbSNP_119	34	2074,6516	337.7+/-322.4	228,1618,2449	yes	missense	CELSR1	NM_014246.1	29	822,2735,2937	GG,GC,CC		24.1444,47.5898,33.7157	possibly-damaging	2903/3015	46760481	4379,8609	2199	4295	6494	SO:0001583	missense	9620	exon33			GGTACTCTCCACG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8707G>C	22.37:g.46760481C>G	ENSP00000262738:p.Glu2903Gln	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	118	52	0.440678	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	515	0.2358058608058608	265	0.5386178861788617	73	0.20165745856353592	1	0.0017482517482517483	176	0.23218997361477572	C	11.43	1.635840	0.29068	0.524102	0.241444	ENSG00000075275	ENST00000262738	T	0.70516	-0.49	3.64	-1.76	0.08006	.	0.482328	0.14430	U	0.320053	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	P	0.39665	0.682	B	0.38428	0.273	T	0.43065	-0.9414	9	0.21540	T	0.41	.	2.3608	0.04307	0.1521:0.5191:0.1482:0.1806	rs9615351;rs60150914	2903	Q9NYQ6	CELR1_HUMAN	Q	2903	ENSP00000262738:E2903Q	ENSP00000262738:E2903Q	E	-	1	0	CELSR1	45139145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.527000	0.22987	-0.226000	0.09899	-0.251000	0.11542	GAG	C|0.700;G|0.300	0.300	strong		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46760481	C	G	46760481	3	3	23	1	0	0	0	0	1	0	0	0	3221	922	32	4	349	4	CELSR1	22	46760481	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	28792	46760481	4544085	4793	21249										
BRD1	23774	hgsc.bcm.edu	37	chr22	50187853	50187853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggagccgctggacttcatagCgcaggtgaggtcgagcatgt	16	9	1	1	rs35331092	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50187853C>T	ENST00000216267.8	-	6	2674	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	BRD1_ENST00000542442.1_Missense_Mutation_p.A418T|BRD1_ENST00000404034.1_Missense_Mutation_p.A730T|BRD1_ENST00000457780.2_Missense_Mutation_p.A730T|BRD1_ENST00000404760.1_Missense_Mutation_p.A730T|BRD1_ENST00000342989.5_Missense_Mutation_p.A325T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	730			A -> T (in dbSNP:rs35331092).		histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACTTCATAGCGCAGGTGAGG	0.607													C|||	342	0.0682907	0.0825	0.0317	5008	,	,		18559	0.003		0.0596	False		,,,				2504	0.1513				p.A730T		Atlas-SNP	.											.	BRD1	144	.	0			c.G2188A						PASS	.	C	THR/ALA	422,3984	206.5+/-228.1	21,380,1802	59	63	62		2188	-0.9	0.4	22	dbSNP_126	62	590,8010	156.4+/-210.3	24,542,3734	yes	missense	BRD1	NM_014577.1	58	45,922,5536	TT,TC,CC		6.8605,9.5778,7.781	benign	730/1059	50187853	1012,11994	2203	4300	6503	SO:0001583	missense	23774	exon6			TCATAGCGCAGGT	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2188G>A	22.37:g.50187853C>T	ENSP00000216267:p.Ala730Thr	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	59	0.59	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	96	0.04395604395604396	41	0.08333333333333333	12	0.03314917127071823	0	0.0	43	0.05672823218997362	C	14.17	2.456934	0.43634	0.095778	0.068605	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.28255	2.57;2.57;2.58;2.44;1.62;2.01	5.4	-0.94	0.10405	.	0.418477	0.26248	N	0.025479	T	0.00754	0.0025	L	0.39898	1.24	0.28355	P	0.9207138	P;P;P;D	0.54964	0.948;0.63;0.788;0.969	B;B;B;B	0.43728	0.247;0.12;0.169;0.429	T	0.07654	-1.0761	9	0.31617	T	0.26	.	21.7236	0.99959	0.1644:0.8356:0.0:0.0	rs35331092	730;325;730;730	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	730;730;730;730;418;325;190	ENSP00000216267:A730T;ENSP00000384076:A730T;ENSP00000385858:A730T;ENSP00000410042:A730T;ENSP00000437514:A418T;ENSP00000345886:A325T	ENSP00000216267:A730T	A	-	1	0	BRD1	48573857	0.065000	0.20965	0.369000	0.25952	0.980000	0.70556	0.428000	0.21395	-0.460000	0.07003	0.655000	0.94253	GCT	C|0.936;T|0.064	0.064	strong		0.607	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50187853	C	T	50187853	3	4	23	1	0	0	0	0	1	0	0	0	1501	768	27	1	1016	1	BRD1	22	50187853	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3427372	50187853	1116713	4794	21250										
BRD1	23774	hgsc.bcm.edu	37	chr22	50217387	50217387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcgcagtgcgactccttctcGaagcggtccatcaggaactc	10	14	2	0	rs11912787	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50217387G>A	ENST00000216267.8	-	1	1065	c.579C>T	c.(577-579)ttC>ttT	p.F193F	BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Silent_p.F193F|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000457780.2_Silent_p.F193F|BRD1_ENST00000404760.1_Silent_p.F193F|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	193					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACTCCTTCTCGAAGCGGTCCA	0.602													G|||	508	0.101438	0.1664	0.0432	5008	,	,		21111	0.003		0.0746	False		,,,				2504	0.184				p.F193F		Atlas-SNP	.											.	BRD1	144	.	0			c.C579T						PASS	.	G		801,3605	322.9+/-297.8	69,663,1471	72	61	65		579	-5.2	1	22	dbSNP_120	65	702,7898	172.6+/-223.3	31,640,3629	no	coding-synonymous	BRD1	NM_014577.1		100,1303,5100	AA,AG,GG		8.1628,18.1798,11.5562		193/1059	50217387	1503,11503	2203	4300	6503	SO:0001819	synonymous_variant	23774	exon1			CTTCTCGAAGCGG	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.579C>T	22.37:g.50217387G>A		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	116	57	0.491379	NM_014577	A6ZJA4	Silent	SNP	ENST00000216267.8	37	CCDS14080.1																																																																																			G|0.899;A|0.101	0.101	strong		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		A	50217387	G	A	50217387	2	1	23	1	0	0	0	0	0	0	0	1	1501	1049	37	1		1	BRD1	22	50217387	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	29534	50217387	1087179	4795	21251										
ZBED4	9889	hgsc.bcm.edu	37	chr22	50277968	50277968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgtctaagatcccgtcccccGatcgaataacagaggagtct	9	13	2	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50277968G>T	ENST00000216268.5	+	2	1135	c.658G>T	c.(658-660)Gat>Tat	p.D220Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	220						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGTCCCCCGATCGAATAAC	0.547																																					p.D220Y		Atlas-SNP	.											ZBED4,NS,carcinoma,0,1	ZBED4	102	1	0			c.G658T						scavenged	.						59	57	57					22																	50277968		2203	4300	6503	SO:0001583	missense	9889	exon2			TCCCCCGATCGAA	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.658G>T	22.37:g.50277968G>T	ENSP00000216268:p.Asp220Tyr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	110	2	0.0181818	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327698	0.41197	.	.	ENSG00000100426	ENST00000216268	T	0.52057	0.68	5.31	4.29	0.51040	.	0.282737	0.33253	N	0.005105	T	0.40247	0.1109	L	0.27053	0.805	0.52099	D	0.999946	P	0.43826	0.818	B	0.42163	0.378	T	0.46442	-0.9191	10	0.87932	D	0	-8.5986	16.0896	0.81084	0.0:0.1342:0.8658:0.0	.	220	O75132	ZBED4_HUMAN	Y	220	ENSP00000216268:D220Y	ENSP00000216268:D220Y	D	+	1	0	ZBED4	48663972	1.000000	0.71417	0.059000	0.19551	0.017000	0.09413	6.103000	0.71492	1.457000	0.47850	0.650000	0.86243	GAT	.	.	none		0.547	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50277968	G	T	50277968	3	4	23	1	0	0	0	0	1	0	0	0	17517	1058	37	4	660	4	ZBED4	22	50277968	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	60581	50277968	1026598	4796	21252										
ALG12	79087	hgsc.bcm.edu	37	chr22	50301476	50301476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tagagtgccatgaagcccagTgccagcaccgtcggcgcgtg	14	13	0	2	rs8135963	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50301476T>C	ENST00000330817.6	-	7	1158	c.885A>G	c.(883-885)gcA>gcG	p.A295A		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	295					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGAAGCCCAGTGCCAGCACCG	0.622													C|||	2014	0.402157	0.8253	0.1902	5008	,	,		18089	0.1806		0.2097	False		,,,				2504	0.407				p.A295A		Atlas-SNP	.											ALG12,NS,carcinoma,0,1	ALG12	35	1	0			c.A885G						PASS	.	C		3136,1270	432.8+/-343.4	1121,894,188	136	125	129		885	-9.6	0	22	dbSNP_116	129	1850,6750	730.8+/-406.8	201,1448,2651	yes	coding-synonymous	ALG12	NM_024105.3		1322,2342,2839	CC,CT,TT		21.5116,28.8243,38.3362		295/489	50301476	4986,8020	2203	4300	6503	SO:0001819	synonymous_variant	79087	exon7			GCCCAGTGCCAGC	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.885A>G	22.37:g.50301476T>C		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	135	69	0.511111	NM_024105	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	ENST00000330817.6	37	CCDS14081.1	754	0.34523809523809523	409	0.8313008130081301	74	0.20441988950276244	107	0.18706293706293706	164	0.21635883905013192	C	0.366	-0.936583	0.02340	0.711757	0.215116	ENSG00000182858	ENST00000486602	.	.	.	4.8	-9.6	0.00553	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.14643	-1.0465	3	.	.	.	-9.9376	1.8826	0.03231	0.1691:0.3659:0.1762:0.2889	rs8135963;rs60186810;rs8135963	.	.	.	A	31	.	.	T	-	1	0	ALG12	48687480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.665000	0.00106	-3.134000	0.00235	-3.324000	0.00044	ACT	T|0.617;C|0.383	0.383	strong		0.622	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		C	50301476	T	C	50301476	2	2	23	1	0	0	0	0	0	0	0	1	514	1683	59	2		2	ALG12	22	50301476	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	23508	50301476	1003090	4797	21253										
CRELD2	79174	hgsc.bcm.edu	37	chr22	50313438	50313438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcagcgacttcgaatgcaaTcagatgctagaggcgcagga	13	9	1	2	rs9616388	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50313438T>C	ENST00000328268.4	+	3	347	c.273T>C	c.(271-273)aaT>aaC	p.N91N	CRELD2_ENST00000407217.3_Silent_p.N91N|ALG12_ENST00000330817.6_5'Flank|CRELD2_ENST00000403427.3_Silent_p.N91N|CRELD2_ENST00000404488.3_Silent_p.N91N	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	91						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.N91N(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCGAATGCAATCAGATGCTAG	0.562													C|||	1251	0.2498	0.3994	0.1354	5008	,	,		18561	0.1052		0.1978	False		,,,				2504	0.3313				p.N91N		Atlas-SNP	.											CRELD2_ENST00000404488,NS,carcinoma,0,3	CRELD2	57	3	1	Substitution - coding silent(1)	stomach(1)	c.T273C						PASS	.	C	,	1526,2876	658.8+/-400.5	263,1000,938	40	41	41		273,273	3.2	0.7	22	dbSNP_119	41	1682,6918	730.4+/-406.8	176,1330,2794	no	coding-synonymous,coding-synonymous	CRELD2	NM_001135101.1,NM_024324.3	,	439,2330,3732	CC,CT,TT		19.5581,34.6661,24.6731	,	91/403,91/354	50313438	3208,9794	2201	4300	6501	SO:0001819	synonymous_variant	79174	exon3			ATGCAATCAGATG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.273T>C	22.37:g.50313438T>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	141	87	0.617021	NM_024324	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	CCDS14082.1																																																																																			T|0.754;C|0.246	0.246	strong		0.562	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		C	50313438	T	C	50313438	2	2	23	1	0	0	0	0	0	0	0	1	3867	1432	50	2		2	CRELD2	22	50313438	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	11962	50313438	991128	4798	21254										
MLC1	23209	hgsc.bcm.edu	37	chr22	50502526	50502526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gatgcaccctgcagccttgcActgaccttgaagcgcacgca	10	15	0	2	rs11568187	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50502526A>G	ENST00000311597.5	-	11	1602	c.996T>C	c.(994-996)agT>agC	p.S332S	MLC1_ENST00000538737.1_Silent_p.S298S|MLC1_ENST00000395876.2_Silent_p.S332S|MLC1_ENST00000535444.1_Silent_p.S253S|MLC1_ENST00000431262.2_Silent_p.S302S|MLC1_ENST00000450140.2_Silent_p.S280S|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	332					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCAGCCTTGCACTGACCTTGA	0.677													g|||	657	0.13119	0.059	0.1758	5008	,	,		14057	0.0923		0.1312	False		,,,				2504	0.2372				p.S332S		Atlas-SNP	.											.	MLC1	48	.	0			c.T996C						PASS	.		,	326,4080	787.1+/-414.8	15,296,1892	51	47	48		996,996	0.8	0	22	dbSNP_120	48	1195,7403	754.8+/-407.5	91,1013,3195	no	coding-synonymous,coding-synonymous	MLC1	NM_015166.3,NM_139202.2	,	106,1309,5087	GG,GA,AA		13.8986,7.399,11.6964	,	332/378,332/378	50502526	1521,11483	2203	4299	6502	SO:0001819	synonymous_variant	23209	exon11			CCTTGCACTGACC	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.996T>C	22.37:g.50502526A>G		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	154	39	0.253247	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																			A|0.894;G|0.106	0.106	strong		0.677	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		G	50502526	A	G	50502526	2	3	23	1	0	0	0	0	0	0	0	1	9612	156	6	2		2	MLC1	22	50502526	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	189088	50502526	802040	4799	21255										
MLC1	23209	hgsc.bcm.edu	37	chr22	50502544	50502544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcactgaccttgaagcgcacGcactggatggcggtgcccgt	14	13	0	2	rs11568186	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50502544G>A	ENST00000311597.5	-	11	1584	c.978C>T	c.(976-978)tgC>tgT	p.C326C	MLC1_ENST00000538737.1_Silent_p.C292C|MLC1_ENST00000395876.2_Silent_p.C326C|MLC1_ENST00000535444.1_Silent_p.C247C|MLC1_ENST00000431262.2_Silent_p.C296C|MLC1_ENST00000450140.2_Silent_p.C274C|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	326					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TGAAGCGCACGCACTGGATGG	0.677													g|||	657	0.13119	0.059	0.1758	5008	,	,		14894	0.0923		0.1312	False		,,,				2504	0.2372				p.C326C		Atlas-SNP	.											.	MLC1	48	.	0			c.C978T						PASS	.		,	328,4078	158.9+/-191.5	15,298,1890	45	42	43		978,978	-5.2	0.8	22	dbSNP_120	43	1198,7402	223.4+/-260.2	90,1018,3192	no	coding-synonymous,coding-synonymous	MLC1	NM_015166.3,NM_139202.2	,	105,1316,5082	AA,AG,GG		13.9302,7.4444,11.733	,	326/378,326/378	50502544	1526,11480	2203	4300	6503	SO:0001819	synonymous_variant	23209	exon11			GCGCACGCACTGG	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.978C>T	22.37:g.50502544G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	162	52	0.320988	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																			G|0.891;A|0.109	0.109	strong		0.677	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		A	50502544	G	A	50502544	2	1	23	1	0	0	0	0	0	0	0	1	9612	1079	38	1		1	MLC1	22	50502544	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	18	50502544	802022	4800	21256										
MLC1	23209	hgsc.bcm.edu	37	chr22	50515270	50515270	+	Splice_Site	SNP	T	T	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaagggaagttttcttacTgagtaagatttcaggacccg					rs267607236|rs6010164	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50515270T>C	ENST00000311597.5	-	7	1203	c.597A>G	c.(595-597)tcA>tcG	p.S199S	MLC1_ENST00000538737.1_Splice_Site_p.S165S|MLC1_ENST00000395876.2_Splice_Site_p.S199S|MLC1_ENST00000535444.1_Splice_Site_p.S120S|MLC1_ENST00000431262.2_Splice_Site_p.S169S|MLC1_ENST00000450140.2_Splice_Site_p.S147S	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	199					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTTTCTTACTGAGTAAGATT	0.498													T|||	654	0.130591	0.0847	0.1585	5008	,	,		18136	0.0913		0.1153	False		,,,				2504	0.229				p.S199S		Atlas-SNP	.											.	MLC1	48	.	0			c.A597G	GRCh37	CD012018	MLC1	D	rs6010164	PASS	.	T	,	449,3957	213.8+/-233.3	25,399,1779	103	108	106	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	597,597	-6.9	0.3	22	dbSNP_114	106	1021,7579	218.5+/-256.9	57,907,3336	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	MLC1	NM_015166.3,NM_139202.2	,	82,1306,5115	CC,CT,TT		11.8721,10.1906,11.3025	,	199/378,199/378	50515270	1470,11536	2203	4300	6503	SO:0001630	splice_region_variant	23209	exon7			TCTTACTGAGTAA	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.597+1A>G	22.37:g.50515270T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	84	51	0.607143	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																			T|0.887;C|0.113	0.113	strong		0.498	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	Silent	C	50515270	T	C	50515270	5	2	23	1	0	0	0	0	0	0	1	0	9612	1594	55	3	560	3	MLC1	22	50515270	Splice_Site	SNP	T	TCGA-GR-7353-01A-11D-2210-10	12726	50515270	789296	4801	21257	422	2								
MLC1	23209	hgsc.bcm.edu	37	chr22	50515273	50515273	+	Silent	SNP	G	G	A													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagggaagttttcttactgaGtaagatttcaggacccgagc					rs267607236|rs6010165	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50515273G>A	ENST00000311597.5	-	7	1200	c.594C>T	c.(592-594)taC>taT	p.Y198Y	MLC1_ENST00000538737.1_Silent_p.Y164Y|MLC1_ENST00000395876.2_Silent_p.Y198Y|MLC1_ENST00000535444.1_Silent_p.Y119Y|MLC1_ENST00000431262.2_Silent_p.Y168Y|MLC1_ENST00000450140.2_Silent_p.Y146Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	198					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TTCTTACTGAGTAAGATTTCA	0.502													A|||	654	0.130591	0.0847	0.1585	5008	,	,		18136	0.0913		0.1153	False		,,,				2504	0.229				p.Y198Y		Atlas-SNP	.											.	MLC1	48	.	0			c.C594T						PASS	.	A	,	448,3958	785.3+/-414.7	25,398,1780	104	109	108	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	594,594	-3.4	0.3	22	dbSNP_114	108	1021,7579	771.9+/-407.7	57,907,3336	no	coding-synonymous,coding-synonymous	MLC1	NM_015166.3,NM_139202.2	,	82,1305,5116	AA,AG,GG		11.8721,10.168,11.2948	,	198/378,198/378	50515273	1469,11537	2203	4300	6503	SO:0001819	synonymous_variant	23209	exon7			TACTGAGTAAGAT	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.594C>T	22.37:g.50515273G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	86	53	0.616279	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																			G|0.884;A|0.116	0.116	strong		0.502	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		A	50515273	G	A	50515273	2	1	23	1	0	0	0	0	0	0	0	1	9612	1024	36	2		2	MLC1	22	50515273	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	3	50515273	789293	4802	21258	422	2								
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50528569	50528569	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcttctggaggacggcggacAcccctagggaggaagccggg	17	11	2	0	rs12628964	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50528569A>T	ENST00000262794.5	+	1	135	c.52A>T	c.(52-54)Acc>Tcc	p.T18S	MOV10L1_ENST00000545383.1_Missense_Mutation_p.T18S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_5'Flank|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T18S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	18			T -> S (in dbSNP:rs12628964).		ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GACGGCGGACACCCCTAGGGA	0.756													A|||	1242	0.248003	0.1218	0.3818	5008	,	,		8047	0.255		0.2356	False		,,,				2504	0.3292				p.T18S		Atlas-SNP	.											.	MOV10L1	238	.	0			c.A52T						PASS	.						6	7	7					22																	50528569		1551	2828	4379	SO:0001583	missense	54456	exon1			GCGGACACCCCTA	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.52A>T	22.37:g.50528569A>T	ENSP00000262794:p.Thr18Ser	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	14	9	0.642857	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	531	0.24313186813186813	60	0.12195121951219512	122	0.3370165745856354	178	0.3111888111888112	171	0.22559366754617413	A	11.91	1.780956	0.31502	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858	D;D;T	0.83673	-1.75;-1.75;-1.34	4.73	-8.4	0.00965	.	2.671080	0.01827	N	0.034422	T	0.00012	0.0000	N	0.01576	-0.805	0.54753	P	1.0999999999983245E-5	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07065	-1.0792	9	0.08381	T	0.77	1.5492	0.9037	0.01280	0.4069:0.1189:0.2329:0.2413	rs12628964	18;18	A8MXC6;Q9BXT6	.;M10L1_HUMAN	S	18	ENSP00000438978:T18S;ENSP00000262794:T18S;ENSP00000379199:T18S	ENSP00000262794:T18S	T	+	1	0	MOV10L1	48870696	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.754000	0.01816	-1.708000	0.01401	-1.098000	0.02139	ACC	A|0.756;T|0.244	0.244	strong		0.756	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50528569	A	T	50528569	3	4	23	1	0	0	0	0	1	0	0	0	9719	159	6	5	54	5	MOV10L1	22	50528569	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	13296	50528569	775997	4803	21259										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50530501	50530501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attatggcatgattgatgatAtgatctacttctccagtgat	8	6	2	5	rs9617066	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50530501A>T	ENST00000262794.5	+	2	252	c.169A>T	c.(169-171)Atg>Ttg	p.M57L	MOV10L1_ENST00000545383.1_Missense_Mutation_p.M57L|MOV10L1_ENST00000395843.1_De_novo_Start_InFrame|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.M37L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.M57L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	57			M -> L (in dbSNP:rs9617066).		ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.M57L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GATTGATGATATGATCTACTT	0.428													T|||	1255	0.250599	0.1301	0.3833	5008	,	,		21379	0.255		0.2356	False		,,,				2504	0.3303				p.M57L		Atlas-SNP	.											MOV10L1,NS,carcinoma,0,1	MOV10L1	238	1	1	Substitution - Missense(1)	stomach(1)	c.A169T						PASS	.	T	LEU/MET,LEU/MET,LEU/MET	699,3707	760.7+/-413.0	60,579,1564	336	276	297		169,109,169	-1	0.1	22	dbSNP_119	297	2048,6552	718.9+/-406.2	247,1554,2499	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	15,15,15	307,2133,4063	TT,TA,AA		23.814,15.8647,21.121	benign,benign,benign	57/1166,37/1166,57/1212	50530501	2747,10259	2203	4300	6503	SO:0001583	missense	54456	exon2			GATGATATGATCT	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.169A>T	22.37:g.50530501A>T	ENSP00000262794:p.Met57Leu	Somatic	266	1	0.0037594		WXS	Illumina HiSeq	Phase_I	228	118	0.517544	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	530	0.24267399267399267	58	0.11788617886178862	121	0.3342541436464088	178	0.3111888111888112	173	0.22823218997361477	T	1.958	-0.439463	0.04636	0.158647	0.23814	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	D;D;T;D	0.83992	-1.6;-1.6;-1.18;-1.79	5.21	-0.971	0.10303	.	0.589282	0.17323	N	0.178429	T	0.00012	0.0000	N	0.00389	-1.56	0.58432	P	4.000000000004E-6	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	0.11867	-1.0570	9	0.02654	T	1	-6.8196	4.8754	0.13653	0.3029:0.3448:0.0:0.3523	rs9617066;rs17846341;rs17859375;rs52817043;rs9617066	37;37;57;57	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	L	57;57;57;37;37	ENSP00000438978:M57L;ENSP00000262794:M57L;ENSP00000379199:M57L;ENSP00000438542:M37L	ENSP00000262794:M57L	M	+	1	0	MOV10L1	48872628	0.000000	0.05858	0.117000	0.21633	0.988000	0.76386	-1.156000	0.03160	-0.198000	0.10333	-0.265000	0.10407	ATG	A|0.776;T|0.224	0.224	strong		0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50530501	A	T	50530501	3	4	23	1	0	0	0	0	1	0	0	0	9719	449	16	5	216	5	MOV10L1	22	50530501	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1932	50530501	774065	4804	21260										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50546666	50546666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgaagccactgagatacaagCgcgtggacaaggtagcgtgc	14	9	0	2	rs3810971	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50546666C>T	ENST00000262794.5	+	4	627	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	MOV10L1_ENST00000545383.1_Missense_Mutation_p.R182C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R162C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R182C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	182			R -> C (in dbSNP:rs3810971).		ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGATACAAGCGCGTGGACAA	0.617													C|||	1236	0.246805	0.1225	0.3833	5008	,	,		18174	0.248		0.2346	False		,,,				2504	0.3292				p.R182C		Atlas-SNP	.											.	MOV10L1	238	.	0			c.C544T						PASS	.	C	CYS/ARG,CYS/ARG,CYS/ARG	665,3741	278.7+/-274.4	55,555,1593	51	42	45		544,484,544	4.2	1	22	dbSNP_107	45	2052,6548	353.0+/-328.9	248,1556,2496	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	180,180,180	303,2111,4089	TT,TC,CC		23.8605,15.0931,20.8904	probably-damaging,probably-damaging,probably-damaging	182/1166,162/1166,182/1212	50546666	2717,10289	2203	4300	6503	SO:0001583	missense	54456	exon4			TACAAGCGCGTGG	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.544C>T	22.37:g.50546666C>T	ENSP00000262794:p.Arg182Cys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	157	81	0.515924	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	525	0.2403846153846154	54	0.10975609756097561	122	0.3370165745856354	177	0.3094405594405594	172	0.22691292875989447	C	18.20	3.570145	0.65765	0.150931	0.238605	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.28	4.2	0.49525	.	0.055074	0.64402	D	0.000001	T	0.00012	0.0000	M	0.72894	2.215	0.09310	P	0.9999999999998017	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68765	0.96;0.938;0.912;0.912	T	0.23762	-1.0179	9	0.87932	D	0	-10.4023	10.4014	0.44231	0.3131:0.6869:0.0:0.0	rs3810971;rs17836603;rs52835906;rs61218086;rs3810971	162;162;182;182	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	C	182;182;182;162;162	ENSP00000438978:R182C;ENSP00000262794:R182C;ENSP00000379199:R182C;ENSP00000438542:R162C	ENSP00000262794:R182C	R	+	1	0	MOV10L1	48888793	1.000000	0.71417	0.951000	0.38953	0.563000	0.35712	2.470000	0.45119	2.480000	0.83734	0.644000	0.83932	CGC	C|0.782;T|0.218	0.218	strong		0.617	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50546666	C	T	50546666	3	4	23	1	0	0	0	0	1	0	0	0	9719	768	27	1	599	1	MOV10L1	22	50546666	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	16165	50546666	757900	4805	21261										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50572473	50572473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtcactttgcacttgaacacGtcatccacttaggtgtaaaa	7	10	2	1	rs2340601	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50572473G>A	ENST00000262794.5	+	14	2031	c.1948G>A	c.(1948-1950)Gtc>Atc	p.V650I	MOV10L1_ENST00000545383.1_Missense_Mutation_p.V650I|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V630I|MOV10L1_ENST00000395858.3_Missense_Mutation_p.V650I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	650			V -> I (in dbSNP:rs2340601).		ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.V650I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACTTGAACACGTCATCCACTT	0.338													G|||	1242	0.248003	0.1218	0.3847	5008	,	,		16603	0.254		0.2356	False		,,,				2504	0.3282				p.V650I		Atlas-SNP	.											MOV10L1,NS,carcinoma,0,1	MOV10L1	238	1	1	Substitution - Missense(1)	stomach(1)	c.G1948A						PASS	.	G	ILE/VAL,ILE/VAL,ILE/VAL	667,3739	284.0+/-277.4	55,557,1591	118	106	110		1948,1888,1948	5.8	0	22	dbSNP_100	110	2049,6551	358.1+/-331.0	246,1557,2497	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	29,29,29	301,2114,4088	AA,AG,GG		23.8256,15.1384,20.8827	possibly-damaging,possibly-damaging,possibly-damaging	650/1166,630/1166,650/1212	50572473	2716,10290	2203	4300	6503	SO:0001583	missense	54456	exon14			GAACACGTCATCC	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1948G>A	22.37:g.50572473G>A	ENSP00000262794:p.Val650Ile	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	124	66	0.532258	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	530	0.24267399267399267	54	0.10975609756097561	123	0.3397790055248619	181	0.31643356643356646	172	0.22691292875989447	G	14.38	2.518497	0.44763	0.151384	0.238256	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85411	-1.79;-1.79;-1.38;-1.98	5.78	5.78	0.91487	.	0.317187	0.38326	N	0.001735	T	0.00012	0.0000	L	0.29908	0.895	0.09310	P	0.999999999875443	P;P;P	0.47962	0.903;0.743;0.619	B;B;B	0.36766	0.232;0.117;0.117	T	0.04178	-1.0971	9	0.30854	T	0.27	-27.556	19.6307	0.95700	0.0:0.0:1.0:0.0	rs2340601;rs3736687;rs17248063;rs52826881;rs61128514;rs2340601	630;650;650	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	I	650;650;650;630	ENSP00000438978:V650I;ENSP00000262794:V650I;ENSP00000379199:V650I;ENSP00000438542:V630I	ENSP00000262794:V650I	V	+	1	0	MOV10L1	48914600	0.645000	0.27286	0.011000	0.14972	0.979000	0.70002	4.303000	0.59098	2.730000	0.93505	0.655000	0.94253	GTC	G|0.776;A|0.224	0.224	strong		0.338	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50572473	G	A	50572473	3	1	23	1	0	0	0	0	1	0	0	0	9719	1145	40	1	2043	1	MOV10L1	22	50572473	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	25807	50572473	732093	4806	21262										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50582626	50582626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcacgagagcaaggtgctacAgccggccaccatggtccggg	15	13	0	1	rs2272837	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50582626A>G	ENST00000262794.5	+	18	2542	c.2459A>G	c.(2458-2460)cAg>cGg	p.Q820R	MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q820R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q800R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q820R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	820			Q -> R (in dbSNP:rs2272837). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGGTGCTACAGCCGGCCACC	0.617													G|||	1690	0.33746	0.1717	0.402	5008	,	,		20265	0.5734		0.2237	False		,,,				2504	0.3896				p.Q820R		Atlas-SNP	.											.	MOV10L1	238	.	0			c.A2459G						PASS	.	G	ARG/GLN,ARG/GLN,ARG/GLN	851,3555	745.6+/-411.7	83,685,1435	115	99	104		2459,2399,2459	-4.2	0	22	dbSNP_100	104	2062,6538	718.2+/-406.2	257,1548,2495	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	43,43,43	340,2233,3930	GG,GA,AA		23.9767,19.3146,22.3974	benign,benign,benign	820/1166,800/1166,820/1212	50582626	2913,10093	2203	4300	6503	SO:0001583	missense	54456	exon18			TGCTACAGCCGGC	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2459A>G	22.37:g.50582626A>G	ENSP00000262794:p.Gln820Arg	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	108	50	0.462963	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	724	0.3315018315018315	81	0.16463414634146342	128	0.35359116022099446	343	0.5996503496503497	172	0.22691292875989447	G	1.424	-0.572018	0.03882	0.193146	0.239767	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.52	-4.18	0.03846	.	0.946793	0.08938	N	0.872037	T	0.00012	0.0000	N	0.01817	-0.705	0.58432	P	6.999999999979245E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.36138	-0.9760	9	0.15499	T	0.54	-13.6798	8.6847	0.34229	0.6308:0.225:0.1443:0.0	rs2272837;rs5771079;rs17248126;rs2272837	800;820;820	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	R	820;820;820;800	ENSP00000438978:Q820R;ENSP00000262794:Q820R;ENSP00000379199:Q820R;ENSP00000438542:Q800R	ENSP00000262794:Q820R	Q	+	2	0	MOV10L1	48924753	0.437000	0.25593	0.000000	0.03702	0.008000	0.06430	1.697000	0.37784	-0.519000	0.06444	-0.735000	0.03563	CAG	A|0.738;G|0.262	0.262	strong		0.617	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		G	50582626	A	G	50582626	3	3	23	1	0	0	0	0	1	0	0	0	9719	188	7	3	2570	3	MOV10L1	22	50582626	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	10153	50582626	721940	4807	21263										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50584201	50584201	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccggataatcatcaccacAtgcagcagctcagggctgtt	9	12	3	0	rs2272838	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50584201A>C	ENST00000262794.5	+	19	2672	c.2589A>C	c.(2587-2589)acA>acC	p.T863T	MOV10L1_ENST00000545383.1_Silent_p.T863T|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000540615.1_Silent_p.T843T|MOV10L1_ENST00000395858.3_Silent_p.T863T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	863					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.T863T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCATCACCACATGCAGCAGCT	0.582													a|||	1252	0.25	0.1233	0.3934	5008	,	,		17468	0.252		0.2376	False		,,,				2504	0.3303				p.T863T		Atlas-SNP	.											MOV10L1,NS,carcinoma,0,1	MOV10L1	238	1	1	Substitution - coding silent(1)	stomach(1)	c.A2589C						PASS	.		,,	676,3730	287.2+/-279.2	56,564,1583	123	120	121		2589,2529,2589	-11.4	0	22	dbSNP_100	121	2081,6519	362.5+/-332.8	254,1573,2473	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	310,2137,4056	CC,CA,AA		24.1977,15.3427,21.1979	,,	863/1166,843/1166,863/1212	50584201	2757,10249	2203	4300	6503	SO:0001819	synonymous_variant	54456	exon19			CACCACATGCAGC	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2589A>C	22.37:g.50584201A>C		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	66	34	0.515152	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																			A|0.774;C|0.226	0.226	strong		0.582	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		C	50584201	A	C	50584201	2	2	23	1	0	0	0	0	0	0	0	1	9719	204	8	5		5	MOV10L1	22	50584201	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1575	50584201	720365	4808	21264										
PANX2	56666	hgsc.bcm.edu	37	chr22	50617671	50617671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctcatcgccaccttcgacGagccgagaacggtcgtgagt	11	14	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50617671G>A	ENST00000395842.2	+	3	1999	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	PANX2_ENST00000159647.5_Silent_p.T638T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	667					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CACCTTCGACGAGCCGAGAAC	0.697																																					p.E667K		Atlas-SNP	.											.	PANX2	69	.	0			c.G1999A						PASS	.						49	43	45					22																	50617671		2203	4297	6500	SO:0001583	missense	56666	exon3			TTCGACGAGCCGA		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1999G>A	22.37:g.50617671G>A	ENSP00000379183:p.Glu667Lys	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	127	44	0.346457	NM_052839	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250501	0.80024	.	.	ENSG00000073150	ENST00000395842;ENST00000401643	T	0.33216	1.42	3.72	3.72	0.42706	.	0.000000	0.37304	U	0.002153	T	0.55529	0.1926	.	.	.	0.46279	D	0.998968	D	0.76494	0.999	D	0.68621	0.959	T	0.64744	-0.6335	9	0.87932	D	0	-23.7117	15.9969	0.80256	0.0:0.0:1.0:0.0	.	667	Q96RD6	PANX2_HUMAN	K	667;344	ENSP00000379183:E667K	ENSP00000379183:E667K	E	+	1	0	PANX2	48959798	1.000000	0.71417	0.946000	0.38457	0.282000	0.26991	6.495000	0.73665	2.081000	0.62600	0.313000	0.20887	GAG	.	.	none		0.697	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50617671	G	A	50617671	3	1	23	1	0	0	0	0	1	0	0	0	11421	1059	37	1	2009	1	PANX2	22	50617671	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	33470	50617671	686895	4809	21265										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50722167	50722167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcccccacccagggggcccgTctcaggctggatctgaaacc	12	17	2	1	rs28470336	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50722167T>C	ENST00000449103.1	-	15	2574	c.2434A>G	c.(2434-2436)Acg>Gcg	p.T812A	PLXNB2_ENST00000359337.4_Missense_Mutation_p.T812A|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	812	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGGGCCCGTCTCAGGCTGG	0.657													T|||	94	0.01877	0.0053	0.0288	5008	,	,		9866	0.0		0.0457	False		,,,				2504	0.0215				p.T812A		Atlas-SNP	.											.	PLXNB2	172	.	0			c.A2434G						PASS	.	T	ALA/THR	21,3845		0,21,1912	26	30	29		2434	4.2	1	22	dbSNP_125	29	465,7793		12,441,3676	yes	missense	PLXNB2	NM_012401.3	58	12,462,5588	CC,CT,TT		5.6309,0.5432,4.0086	possibly-damaging	812/1839	50722167	486,11638	1933	4129	6062	SO:0001583	missense	23654	exon15			GGCCCGTCTCAGG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2434A>G	22.37:g.50722167T>C	ENSP00000409171:p.Thr812Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	68	43	0.632353	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	53	0.024267399267399268	3	0.006097560975609756	9	0.024861878453038673	4	0.006993006993006993	37	0.048812664907651716	T	11.16	1.555922	0.27827	0.005432	0.056309	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.77877	-1.13;-1.13	4.22	4.22	0.49857	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.115149	0.38605	N	0.001639	T	0.20007	0.0481	L	0.41492	1.28	0.09310	N	1	B	0.17852	0.024	B	0.23150	0.044	T	0.37337	-0.9710	10	0.44086	T	0.13	.	7.017	0.24892	0.2026:0.0:0.0:0.7974	rs28470336	812	O15031	PLXB2_HUMAN	A	812	ENSP00000409171:T812A;ENSP00000352288:T812A	ENSP00000352288:T812A	T	-	1	0	PLXNB2	49064294	0.000000	0.05858	0.978000	0.43139	0.451000	0.32288	0.424000	0.21330	1.780000	0.52325	0.397000	0.26171	ACG	T|0.968;C|0.032	0.032	strong		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		C	50722167	T	C	50722167	3	2	23	1	0	0	0	0	1	0	0	0	12124	1667	58	2	3174	2	PLXNB2	22	50722167	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	104496	50722167	582399	4810	21266										
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50722408	50722408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gctgcggccaaaggagcagtTgtagagggtcactgcgggga	18	8	1	1	rs79966207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chr22:50722408T>C	ENST00000449103.1	-	14	2415	c.2275A>G	c.(2275-2277)Aac>Gac	p.N759D	PLXNB2_ENST00000359337.4_Missense_Mutation_p.N759D|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	759					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.N802D(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGGAGCAGTTGTAGAGGGTC	0.706													t|||	373	0.0744808	0.0061	0.0893	5008	,	,		8236	0.0694		0.175	False		,,,				2504	0.0583				p.N759D		Atlas-SNP	.											PLXNB2,brain,glioma,0,1	PLXNB2	172	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.A2275G						PASS	.		ASP/ASN	101,3857		1,99,1879	13	19	17		2275	4.5	1	22	dbSNP_131	17	1264,6886		91,1082,2902	yes	missense	PLXNB2	NM_012401.3	23	92,1181,4781	CC,CT,TT		15.5092,2.5518,11.2735	probably-damaging	759/1839	50722408	1365,10743	1979	4075	6054	SO:0001583	missense	23654	exon14			AGCAGTTGTAGAG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2275A>G	22.37:g.50722408T>C	ENSP00000409171:p.Asn759Asp	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	23	23	1	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	199	0.09111721611721611	3	0.006097560975609756	31	0.0856353591160221	38	0.06643356643356643	127	0.16754617414248021	t	10.59	1.392764	0.25118	0.025518	0.155092	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03242	4.0;4.0	4.52	4.52	0.55395	.	0.092327	0.46758	D	0.000272	T	0.00012	0.0000	L	0.38953	1.18	0.09310	P	0.99999717682	P	0.45126	0.851	B	0.41332	0.354	T	0.59392	-0.7463	9	0.19590	T	0.45	.	11.8308	0.52295	0.0:0.0:0.0:1.0	.	759	O15031	PLXB2_HUMAN	D	759	ENSP00000409171:N759D;ENSP00000352288:N759D	ENSP00000352288:N759D	N	-	1	0	PLXNB2	49064535	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.062000	0.49971	1.899000	0.54978	0.398000	0.26397	AAC	T|0.908;C|0.092	0.092	strong		0.706	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		C	50722408	T	C	50722408	3	2	23	1	0	0	0	0	1	0	0	0	12124	1812	63	2	3337	2	PLXNB2	22	50722408	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	241	50722408	582158	4811	21267										
ARSD	414	hgsc.bcm.edu	37	chrX	2833605	2833605	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	accttgacttacctatgagcCagtccatctcctccacatta	4	15	1	2	rs111939179		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2833605C>T	ENST00000381154.1	-	6	1067	c.992G>A	c.(991-993)tGg>tAg	p.W331*	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	331					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTATGAGCCAGTCCATCTC	0.498																																					p.W331X		Atlas-SNP	.											.	ARSD	47	.	0			c.G992A						PASS	.						242	167	192					X																	2833605		2203	4300	6503	SO:0001587	stop_gained	414	exon6			ATGAGCCAGTCCA	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.992G>A	X.37:g.2833605C>T	ENSP00000370546:p.Trp331*	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	87	17	0.195402	NM_001669	Q9UHJ8	Nonsense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.78	3.216389	0.58452	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	.	.	.	3.68	3.68	0.42216	.	0.211852	0.43919	U	0.000517	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9467	0.35762	0.0:0.8898:0.0:0.1102	.	.	.	.	X	331	.	ENSP00000217890:W331X	W	-	2	0	ARSD	2843605	1.000000	0.71417	0.749000	0.31150	0.169000	0.22640	3.671000	0.54576	1.478000	0.48253	0.508000	0.49915	TGG	C|0.999;T|0.001	0.001	strong		0.498	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			T	2833605	C	T	2833605	4	4	23	1	0	0	0	0	0	1	0	0	989	595	21	2	962	2	ARSD	23	2833605	Nonsense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10		2833605	152436955	4812	21268			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2833628	2833628	+	Silent	SNP	A	A	C													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tccatctcctccacattatcAccatataagccatgctgact					rs373216270		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2833628A>C	ENST00000381154.1	-	6	1044	c.969T>G	c.(967-969)ggT>ggG	p.G323G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	323					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACATTATCACCATATAAGC	0.507																																					p.G323G		Atlas-SNP	.											.	ARSD	47	.	0			c.T969G						PASS	.						240	161	188					X																	2833628		2203	4300	6503	SO:0001819	synonymous_variant	414	exon6			ATTATCACCATAT	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.969T>G	X.37:g.2833628A>C		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	95	25	0.263158	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			.	.	weak		0.507	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2833628	A	C	2833628	2	2	23	1	0	0	0	0	0	0	0	1	989	146	6	5		5	ARSD	23	2833628	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	23	2833628	152436932	4813	21269	423	2	21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2833631	2833631	+	Silent	SNP	A	A	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atctcctccacattatcaccAtataagccatgctgactttt					rs377542415		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2833631A>G	ENST00000381154.1	-	6	1041	c.966T>C	c.(964-966)taT>taC	p.Y322Y	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	322					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATTATCACCATATAAGCCAT	0.507																																					p.Y322Y		Atlas-SNP	.											.	ARSD	47	.	0			c.T966C						PASS	.						236	159	185					X																	2833631		2203	4300	6503	SO:0001819	synonymous_variant	414	exon6			ATCACCATATAAG	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.966T>C	X.37:g.2833631A>G		Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	94	26	0.276596	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			.	.	weak		0.507	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			G	2833631	A	G	2833631	2	3	23	1	0	0	0	0	0	0	0	1	989	224	8	2		2	ARSD	23	2833631	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	3	2833631	152436929	4814	21270	423	2	21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2833643	2833643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttatcaccatataagccatgCtgacttttccccaggaatgc	6	12	1	1	rs115332247		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2833643C>A	ENST00000381154.1	-	6	1029	c.954G>T	c.(952-954)caG>caT	p.Q318H	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	318					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATAAGCCATGCTGACTTTTCC	0.498																																					p.Q318H		Atlas-SNP	.											.	ARSD	47	.	0			c.G954T						PASS	.						229	155	180					X																	2833643		2203	4300	6503	SO:0001583	missense	414	exon6			GCCATGCTGACTT	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.954G>T	X.37:g.2833643C>A	ENSP00000370546:p.Gln318His	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	95	28	0.294737	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787191	0.16189	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93659	-3.26	3.68	-6.79	0.01715	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.058950	0.07543	N	0.914110	D	0.86351	0.5912	L	0.44542	1.39	0.80722	P	0.0	B;B	0.12013	0.005;0.002	B;B	0.17979	0.02;0.004	T	0.72261	-0.4345	9	0.54805	T	0.06	.	2.4437	0.04500	0.2117:0.2407:0.4073:0.1403	.	318;318	E9PAW5;P51689	.;ARSD_HUMAN	H	318	ENSP00000370546:Q318H	ENSP00000217890:Q318H	Q	-	3	2	ARSD	2843643	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.691000	0.00830	-1.408000	0.02040	-0.363000	0.07495	CAG	.	.	strong		0.498	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2833643	C	A	2833643	3	1	23	1	0	0	0	0	1	0	0	0	989	796	28	4	1000	4	ARSD	23	2833643	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	12	2833643	152436917	4815	21271			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2835964	2835964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttccagcgtcgcacaaacccGaaggaggagtaccaagagat	11	11	0	1	rs73632972	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2835964G>A	ENST00000381154.1	-	5	819	c.744C>T	c.(742-744)ttC>ttT	p.F248F	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	248					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAAACCCGAAGGAGGAGT	0.557																																					p.F248F		Atlas-SNP	.											.	ARSD	47	.	0			c.C744T						PASS	.						35	38	37					X																	2835964		2203	4300	6503	SO:0001819	synonymous_variant	414	exon5			AAACCCGAAGGAG	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.744C>T	X.37:g.2835964G>A		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	140	55	0.392857	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			G|0.500;A|0.500	0.500	strong		0.557	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2835964	G	A	2835964	2	1	23	1	0	0	0	0	0	0	0	1	989	1049	37	1		1	ARSD	23	2835964	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	2321	2835964	152434596	4816	21272			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2835985	2835985	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaggaggagtaccaagagatGaaaaacaggcagcccacgcc	12	10	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2835985G>A	ENST00000381154.1	-	5	798	c.723C>T	c.(721-723)ttC>ttT	p.F241F	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	241					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCAAGAGATGAAAAACAGGC	0.582													g|||	14	0.00370861	0.0061	0.0	3775	,	,		18064	0.0		0.001	False		,,,				2504	0.0051				p.F241F		Atlas-SNP	.											.	ARSD	47	.	0			c.C723T						PASS	.						32	36	35					X																	2835985		2203	4300	6503	SO:0001819	synonymous_variant	414	exon5			AGAGATGAAAAAC	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.723C>T	X.37:g.2835985G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	107	40	0.373832	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			.	.	none		0.582	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2835985	G	A	2835985	2	1	23	1	0	0	0	0	0	0	0	1	989	1281	45	2		2	ARSD	23	2835985	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	21	2835985	152434575	4817	21273			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2835999	2836007	+	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agagatgaaaaacaggcagcCcacgccggccatgccggtga					rs113556864|rs190767292		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	CCACGCCGG	CCACGCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2835999_2836007delCCACGCCGG	ENST00000381154.1	-	5	776_784	c.701_709delCCGGCGTGG	c.(700-711)gccggcgtgggc>ggc	p.AGV234del	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGGCAGCCCACGCCGGCCATGCCGGT	0.593																																					p.234_237del		Atlas-Indel	.											.	ARSD	47	.	0			c.702_710del						PASS	.			451,3270		0,2,449,1590,88						-6.3	0		dbSNP_132	32	1416,5068		2,4,1408,2351,362	no	coding	ARSD	NM_001669.3		2,6,1857,3941,450	A1A1,A1R,A1,RR,R		21.8384,12.1204,18.295				1867,8338				SO:0001651	inframe_deletion	414	exon5			.	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701_709delCCGGCGTGG	X.37:g.2835999_2836007delCCACGCCGG	ENSP00000370546:p.Ala234_Val236del	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	85	24	0.282353	NM_001669	Q9UHJ8	In_Frame_Del	DEL	ENST00000381154.1	37	CCDS35196.1																																																																																			CCACGCCGG|0.500;-|0.500	0.500	weak		0.593	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			-	2836007	CCACGCCGG	-	2835999	7	5	23	1	0	1	0	1	0	0	0	0	989	623	22	0	1249	0	ARSD	23	2835999	In_Frame_Del	DEL	CCACGCCGG	TCGA-GR-7353-01A-11D-2210-10	14	2835999	152434561	4818	21274			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2836041	2836041	+	Missense_Mutation	SNP	A	A	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgctctcgcggagacagagaAgaaaccgcaggtctggccgg					rs67272620		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2836041A>T	ENST00000381154.1	-	5	742	c.667T>A	c.(667-669)Ttc>Atc	p.F223I	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	223					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGACAGAGAAGAAACCGCAG	0.642																																					p.F223I		Atlas-SNP	.											.	ARSD	47	.	0			c.T667A						PASS	.						18	22	21					X																	2836041		2203	4298	6501	SO:0001583	missense	414	exon5			CAGAGAAGAAACC	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.667T>A	X.37:g.2836041A>T	ENSP00000370546:p.Phe223Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	2.915	-0.224509	0.06061	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93366	-3.21	3.47	-2.84	0.05751	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.212178	0.30510	N	0.009474	T	0.68805	0.3041	N	0.00652	-1.29	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.68610	-0.5363	10	0.10377	T	0.69	.	1.9766	0.03417	0.2278:0.2384:0.3921:0.1417	.	223;223	E9PAW5;P51689	.;ARSD_HUMAN	I	223	ENSP00000370546:F223I	ENSP00000217890:F223I	F	-	1	0	ARSD	2846041	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.118000	0.00291	-1.381000	0.02112	-0.663000	0.03849	TTC	A|0.500;T|0.500	0.500	strong		0.642	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			T	2836041	A	T	2836041	3	4	23	1	0	0	0	0	1	0	0	0	989	72	3	5	1291	5	ARSD	23	2836041	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	42	2836041	152434519	4819	21275	424	2	21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2836047	2836047	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cgcggagacagagaagaaacCgcaggtctggccggcagcca					rs67359049		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2836047C>T	ENST00000381154.1	-	5	736	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	221					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAGAAACCGCAGGTCTGG	0.652																																					p.G221S		Atlas-SNP	.											.	ARSD	47	.	0			c.G661A						PASS	.						17	22	20					X																	2836047		2202	4298	6500	SO:0001583	missense	414	exon5			AGAAACCGCAGGT	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.661G>A	X.37:g.2836047C>T	ENSP00000370546:p.Gly221Ser	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	85	38	0.447059	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	102	0.06148282097649186	36	0.0782608695652174	20	0.055865921787709494	33	0.05871886120996441	55	0.07412398921832884	c	15.90	2.969913	0.53614	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93659	-3.26	3.47	2.6	0.31112	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000004	T	0.64349	0.2590	M	0.80847	2.515	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.66351	0.943;0.812	T	0.73418	-0.3989	10	0.42905	T	0.14	.	7.3482	0.26676	0.0:0.7823:0.0:0.2177	.	221;221	E9PAW5;P51689	.;ARSD_HUMAN	S	221	ENSP00000370546:G221S	ENSP00000217890:G221S	G	-	1	0	ARSD	2846047	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.249000	0.08842	0.383000	0.24910	-0.454000	0.05498	GGT	C|0.938;T|0.062	0.062	strong		0.652	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			T	2836047	C	T	2836047	3	4	23	1	0	0	0	0	1	0	0	0	989	652	23	1	1297	1	ARSD	23	2836047	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6	2836047	152434513	4820	21276	424	2	21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
ARSD	414	hgsc.bcm.edu	37	chrX	2836060	2836060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aagaaaccgcaggtctggccGgcagccagggtgagaatccc	14	12	1	2	rs113318393		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:2836060G>A	ENST00000381154.1	-	5	723	c.648C>T	c.(646-648)gcC>gcT	p.A216A	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	216					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTCTGGCCGGCAGCCAGGG	0.652																																					p.A216A		Atlas-SNP	.											.	ARSD	47	.	0			c.C648T						PASS	.						16	20	18					X																	2836060		2201	4294	6495	SO:0001819	synonymous_variant	414	exon5			CTGGCCGGCAGCC	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.648C>T	X.37:g.2836060G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	83	36	0.433735	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			G|0.930;A|0.070	0.070	strong		0.652	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2836060	G	A	2836060	2	1	23	1	0	0	0	0	0	0	0	1	989	1103	39	1		1	ARSD	23	2836060	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	13	2836060	152434500	4821	21277			21	90		10	8	2456	N	G_CCACGCCGG_C_A	1.615513e-07
MXRA5	25878	hgsc.bcm.edu	37	chrX	3248333	3248333	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gacgttaagccgttgaaagcTtgagggtggataaactcgat	13	6	0	2	rs372395776		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:3248333T>C	ENST00000217939.6	-	4	589	c.435A>G	c.(433-435)caA>caG	p.Q145Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	145						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTTGAAAGCTTGAGGGTGGA	0.488																																					p.Q145Q		Atlas-SNP	.											.	MXRA5	815	.	0			c.A435G						PASS	.	T		1,3834		0,0,1,1632,570	118	96	103		435	-7.1	0	X		103	1,6727		0,0,1,2428,1871	no	coding-synonymous	MXRA5	NM_015419.3		0,0,2,4060,2441	CC,CT,C,TT,T		0.0149,0.0261,0.0189		145/2829	3248333	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	25878	exon4			GAAAGCTTGAGGG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.435A>G	X.37:g.3248333T>C		Somatic	397	2	0.00503778		WXS	Illumina HiSeq	Phase_I	176	171	0.971591	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.	.	weak		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3248333	T	C	3248333	2	2	23	1	0	0	0	0	0	0	0	1	10003	1606	56	3		3	MXRA5	23	3248333	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	412273	3248333	152022227	4822	21278										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	6995417	6995417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttgtcttcatatcgaacgaCgcggaccccgagctggtggc	12	13	2	0	rs2379207	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:6995417C>T	ENST00000381077.5	-	3	430	c.354G>A	c.(352-354)gcG>gcA	p.A118A	HDHD1_ENST00000412827.2_Silent_p.A75A|HDHD1_ENST00000540122.1_Silent_p.A118A|HDHD1_ENST00000424830.2_Silent_p.A141A	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	118					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TATCGAACGACGCGGACCCCG	0.587													C|||	961	0.25457	0.0537	0.3372	3775	,	,		11649	0.2153		0.1779	False		,,,				2504	0.2658				p.A141A		Atlas-SNP	.											.	HDHD1	21	.	0			c.G423A						PASS	.	C	,,,	354,3193		16,254,68,1218,503	44	46	46		423,354,225,354	-1.5	0	X	dbSNP_100	46	1568,4975		152,846,418,1370,1389	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	,,,	168,1100,486,2588,1892	TT,TC,T,CC,C		23.9645,9.9803,19.0486	,,,	141/252,118/209,75/186,118/229	6995417	1922,8168	2059	4175	6234	SO:0001819	synonymous_variant	8226	exon4			GAACGACGCGGAC	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.354G>A	X.37:g.6995417C>T		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	96	93	0.96875	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																			C|0.748;0|0.031	.	strong		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995417	C	T	6995417	2	4	23	1	0	0	0	0	0	0	0	1	7022	523	19	1		1	HDHD1A	23	6995417	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3747084	6995417	148275143	4823	21279										
HDHD1A	8226	hgsc.bcm.edu	37	chrX	6995438	6995438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcggaccccgagctggtggcCagtgcaaaggggatgccatg	17	11	0	0	rs1803675	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:6995438C>T	ENST00000381077.5	-	3	409	c.333G>A	c.(331-333)ctG>ctA	p.L111L	HDHD1_ENST00000412827.2_Silent_p.L68L|HDHD1_ENST00000540122.1_Silent_p.L111L|HDHD1_ENST00000424830.2_Silent_p.L134L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	111					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						AGCTGGTGGCCAGTGCAAAGG	0.597													C|||	1051	0.278411	0.1074	0.3473	3775	,	,		12574	0.2153		0.1909	False		,,,				2504	0.2648				p.L134L		Atlas-SNP	.											.	HDHD1	21	.	0			c.G402A						PASS	.	C	,,,	645,2938		57,424,107,1025,464	51	51	51		402,333,204,333	-7.8	0	X	dbSNP_89	51	1700,4864		172,894,462,1310,1350	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	,,,	229,1318,569,2335,1814	TT,TC,T,CC,C		25.8988,18.0017,23.1103	,,,	134/252,111/209,68/186,111/229	6995438	2345,7802	2077	4188	6265	SO:0001819	synonymous_variant	8226	exon4			GGTGGCCAGTGCA	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.333G>A	X.37:g.6995438C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	98	97	0.989796	NM_001135565	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																			C|0.723;T|0.277	0.277	strong		0.597	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995438	C	T	6995438	2	4	23	1	0	0	0	0	0	0	0	1	7022	581	21	2		2	HDHD1A	23	6995438	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	21	6995438	148275122	4824	21280										
FRMPD4	9758	hgsc.bcm.edu	37	chrX	12720127	12720127	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aaaatctccctcaaatacatCgagtaagtgttgactctcag	6	10	3	1			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:12720127C>T	ENST00000380682.1	+	10	1574	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	356	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I346I(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAATACATCGAGTAAGTGT	0.468											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I356I		Atlas-SNP	.											.	FRMPD4	214	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1068T						PASS	.						124	103	110					X																	12720127		2203	4300	6503	SO:0001819	synonymous_variant	9758	exon10			ATACATCGAGTAA	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1068C>T	X.37:g.12720127C>T		Somatic	101	0	0	682	WXS	Illumina HiSeq	Phase_I	39	39	1	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																			.	.	none		0.468	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12720127	C	T	12720127	2	4	23	1	0	0	0	0	0	0	0	1	6059	874	31	1		1	FRMPD4	23	12720127	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5724689	12720127	142550433	4825	21281										
TLR8	51311	hgsc.bcm.edu	37	chrX	12937513	12937513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aatggcttgaatatcacagaCggggcattcctcaacctaaa	8	10	2	2	rs2159377	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:12937513C>T	ENST00000218032.6	+	2	441	c.354C>T	c.(352-354)gaC>gaT	p.D118D	TLR8_ENST00000311912.5_Silent_p.D136D	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	118					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ATATCACAGACGGGGCATTCC	0.428													C|||	1412	0.37404	0.1316	0.219	3775	,	,		13960	0.5774		0.1322	False		,,,				2504	0.3793				p.D118D		Atlas-SNP	.											.	TLR8	134	.	0			c.C354T						PASS	.	C		534,3301		39,380,76,1213,495	114	117	116		354	-5.5	0.1	X	dbSNP_96	116	1169,5559		70,727,302,1631,1570	no	coding-synonymous	TLR8	NM_138636.4		109,1107,378,2844,2065	TT,TC,T,CC,C		17.3751,13.9244,16.1223		118/1042	12937513	1703,8860	2203	4300	6503	SO:0001819	synonymous_variant	51311	exon2			CACAGACGGGGCA	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.354C>T	X.37:g.12937513C>T		Somatic	159	1	0.00628931		WXS	Illumina HiSeq	Phase_I	70	68	0.971429	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																			C|0.738;0|0.006	.	strong		0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12937513	C	T	12937513	2	4	23	1	0	0	0	0	0	0	0	1	15954	535	19	1		1	TLR8	23	12937513	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	217386	12937513	142333047	4826	21282										
ASB11	140456	hgsc.bcm.edu	37	chrX	15332558	15332558	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	catggtccggaccttctgatAcgttctgaaacttcacaatt	7	11	3	2	rs5935944	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:15332558A>G	ENST00000480796.1	-	1	232				ASB11_ENST00000537676.1_Silent_p.R17R|ASB11_ENST00000344384.4_Silent_p.R17R|ASB11_ENST00000380470.3_Intron			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					ACCTTCTGATACGTTCTGAAA	0.363													A|||	1356	0.359205	0.1059	0.2161	3775	,	,		13644	0.3185		0.2952	False		,,,				2504	0.4581				p.R17R		Atlas-SNP	.											.	ASB11	79	.	0			c.T51C						PASS	.	A	,,	751,3084		61,504,125,1067,446	141	125	131		51,,	5.8	0.1	X	dbSNP_114	131	2634,4094		381,1177,695,870,1177	no	coding-synonymous,intron,intron	ASB11	NM_001012428.2,NM_001201583.1,NM_080873.2	,,	442,1681,820,1937,1623	GG,GA,G,AA,A		39.1498,19.5828,32.0458	,,	17/303,,	15332558	3385,7178	2203	4300	6503	SO:0001627	intron_variant	140456	exon1			TCTGATACGTTCT	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.181+988T>C	X.37:g.15332558A>G		Somatic	138	1	0.00724638		WXS	Illumina HiSeq	Phase_I	65	65	1	NM_001012428	E9PEN1|Q3SYC4|Q7Z667	Silent	SNP	ENST00000480796.1	37	CCDS14164.1																																																																																			A|0.680;0|0.003	.	strong		0.363	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			G	15332558	A	G	15332558	1	3	23	0	1	0	0	0	0	0	0	0	1015	378	14	2		2	ASB11	23	15332558	Intron	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2395045	15332558	139938002	4827	21283										
KLHL34	257240	hgsc.bcm.edu	37	chrX	21675125	21675125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgagcggctggcgggagggcGtcgtgtggtagttgagggcc	22	7	0	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:21675125G>A	ENST00000379499.2	-	1	1323	c.782C>T	c.(781-783)aCg>aTg	p.T261M		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	261						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGGGAGGGCGTCGTGTGGTA	0.706													G|||	1	0.000264901	0.0	0.0	3775	,	,		9852	0.0		0.0	False		,,,				2504	0.001				p.T261M		Atlas-SNP	.											.	KLHL34	76	.	0			c.C782T						PASS	.						16	18	17					X																	21675125		2197	4282	6479	SO:0001583	missense	257240	exon1			GAGGGCGTCGTGT	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.782C>T	X.37:g.21675125G>A	ENSP00000368813:p.Thr261Met	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	87	83	0.954023	NM_153270		Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.747283	0.00086	.	.	ENSG00000185915	ENST00000379499	T	0.72394	-0.65	4.76	3.89	0.44902	.	0.552287	0.18919	N	0.127528	T	0.38480	0.1042	N	0.01168	-0.975	0.09310	N	1	B	0.20887	0.049	B	0.12837	0.008	T	0.24693	-1.0153	10	0.27082	T	0.32	.	8.1602	0.31194	0.0844:0.0:0.7565:0.1591	.	261	Q8N239	KLH34_HUMAN	M	261	ENSP00000368813:T261M	ENSP00000368813:T261M	T	-	2	0	KLHL34	21585046	0.003000	0.15002	0.038000	0.18304	0.365000	0.29674	1.693000	0.37742	0.990000	0.38787	0.422000	0.28245	ACG	.	.	none		0.706	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		A	21675125	G	A	21675125	3	1	23	1	0	0	0	0	1	0	0	0	8387	1145	40	1	1156	1	KLHL34	23	21675125	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6342567	21675125	133595435	4828	21284										
DCAF8L1	139425	hgsc.bcm.edu	37	chrX	27999146	27999146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctccatctcttcttcttcCtcctccctttctgtctcctc	1	20	5	0	rs41311803	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:27999146C>T	ENST00000441525.1	-	1	420	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	102	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						cttcttcttcctcctccCTTT	0.502													C|||	347	0.0919205	0.1074	0.0403	3775	,	,		15425	0.0387		0.0676	False		,,,				2504	0.0716				p.E102E		Atlas-SNP	.											.	DCAF8L1	121	.	0			c.G306A						PASS	.	C		530,3303		44,376,66,1211,505	154	96	116		306	0.8	0.6	X	dbSNP_127	116	538,6190		20,352,146,2056,1726	no	coding-synonymous	DCAF8L1	NM_001017930.1		64,728,212,3267,2231	TT,TC,T,CC,C		7.9964,13.8273,10.1127		102/601	27999146	1068,9493	2202	4300	6502	SO:0001819	synonymous_variant	139425	exon1			TTCTTCCTCCTCC		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.306G>A	X.37:g.27999146C>T		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	117	114	0.974359	NM_001017930	B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																			C|0.904;T|0.096	0.096	strong		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27999146	C	T	27999146	2	4	23	1	0	0	0	0	0	0	0	1	4277	680	24	2		2	DCAF8L1	23	27999146	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	6324021	27999146	127271414	4829	21285										
NR0B1	190	hgsc.bcm.edu	37	chrX	30326983	30326983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcccaccacgcgccccctggCcgtgcctcgggcgctgccgg	13	21	0	0	rs2269345	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:30326983C>T	ENST00000378970.4	-	1	732	c.498G>A	c.(496-498)cgG>cgA	p.R166R	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Silent_p.R166R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	166	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGCCCCCTGGCCGTGCCTCGG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1799	0.476556	0.3669	0.2983	3775	,	,		10783	0.5506		0.1252	False		,,,				2504	0.4356				p.R166R		Atlas-SNP	.											.	NR0B1	61	.	0			c.G498A						PASS	.	C		1657,2162		310,798,239,518,328	14	12	13		498	0.3	0	X	dbSNP_100	13	1320,5388		111,746,352,1565,1512	no	coding-synonymous	NR0B1	NM_000475.4		421,1544,591,2083,1840	TT,TC,T,CC,C		19.678,43.3883,28.2797		166/471	30326983	2977,7550	2193	4286	6479	SO:0001819	synonymous_variant	190	exon1			CCCTGGCCGTGCC	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.498G>A	X.37:g.30326983C>T		Somatic	66	0	0	816	WXS	Illumina HiSeq	Phase_I	28	26	0.928571	NM_000475	Q96F69	Silent	SNP	ENST00000378970.4	37	CCDS14223.1																																																																																			C|0.621;T|0.379	0.379	strong		0.677	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		T	30326983	C	T	30326983	2	4	23	1	0	0	0	0	0	0	0	1	10613	726	26	2		2	NR0B1	23	30326983	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	2327837	30326983	124943577	4830	21286										
FAM47A	158724	hgsc.bcm.edu	37	chrX	34148877	34148877	+	Missense_Mutation	SNP	C	C	G													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccgacgagtcttgggaggctCcgagcggagactggacgtcc					rs5973088		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:34148877C>G	ENST00000346193.3	-	1	1570	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	507			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.E507Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGAGCGGAGA	0.647																																					p.E507Q		Atlas-SNP	.											.	FAM47A	249	.	1	Substitution - Missense(1)	kidney(1)	c.G1519C						PASS	.						29	29	29					X																	34148877		2181	4247	6428	SO:0001583	missense	158724	exon1			GAGGCTCCGAGCG	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1519G>C	X.37:g.34148877C>G	ENSP00000345029:p.Glu507Gln	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	53	14	0.264151	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	6	0.003616636528028933	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	2	0.002638522427440633	c	9.299	1.052687	0.19907	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.226	0.226	0.15353	.	.	.	.	.	T	0.05227	0.0139	L	0.27053	0.805	0.09310	N	1	B	0.24483	0.104	B	0.16722	0.016	T	0.41466	-0.9507	8	0.17832	T	0.49	.	.	.	.	rs5973088	507	Q5JRC9	FA47A_HUMAN	Q	507	ENSP00000345029:E507Q	ENSP00000345029:E507Q	E	-	1	0	FAM47A	34058798	0.053000	0.20554	0.000000	0.03702	0.001000	0.01503	1.713000	0.37951	0.283000	0.22279	0.287000	0.19450	GAG	C|0.996;G|0.004	0.004	strong		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		G	34148877	C	G	34148877	3	3	23	1	0	0	0	0	1	0	0	0	5569	864	30	4	860	4	FAM47A	23	34148877	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	3821894	34148877	121121683	4831	21287	425	2								
FAM47A	158724	hgsc.bcm.edu	37	chrX	34148882	34148882	+	Missense_Mutation	SNP	C	C	T													0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtcttgggaggctccgagCggagactggacgtccgacga					rs5973089		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:34148882C>T	ENST00000346193.3	-	1	1565	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	505			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGAGCGGAGACTGGA	0.647																																					p.R505H		Atlas-SNP	.											.	FAM47A	249	.	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.G1514A						PASS	.						30	31	31					X																	34148882		2183	4272	6455	SO:0001583	missense	158724	exon1			TCCGAGCGGAGAC	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1514G>A	X.37:g.34148882C>T	ENSP00000345029:p.Arg505His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	54	7	0.12963	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.583	-0.836375	0.02692	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.513	-0.53	0.11898	.	.	.	.	.	T	0.11623	0.0283	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28106	-1.0054	8	0.40728	T	0.16	.	.	.	.	rs5973089	505	Q5JRC9	FA47A_HUMAN	H	505	ENSP00000345029:R505H	ENSP00000345029:R505H	R	-	2	0	FAM47A	34058803	0.076000	0.21285	0.002000	0.10522	0.006000	0.05464	-0.425000	0.07017	-0.338000	0.08413	-0.722000	0.03604	CGC	C|1.000;T|0.000	0.000	strong		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148882	C	T	34148882	3	4	23	1	0	0	0	0	1	0	0	0	5569	768	27	1	865	1	FAM47A	23	34148882	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	5	34148882	121121678	4832	21288	425	2								
FAM47C	442444	hgsc.bcm.edu	37	chrX	37029254	37029254	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttggacgggaaaatccagaAtgcaccaaattctcatagtg	9	9	1	1	rs1995914	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:37029254A>C	ENST00000358047.3	+	1	2823	c.2771A>C	c.(2770-2772)aAt>aCt	p.N924T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	924			N -> T (in dbSNP:rs1995914).							breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAAATCCAGAATGCACCAAAT	0.453													N|||	1396	0.369801	0.6445	0.2392	3775	,	,		15358	0.0982		0.0785	False		,,,				2504	0.2045				p.N924T		Atlas-SNP	.											.	FAM47C	267	.	0			c.A2771C						PASS	.	C	THR/ASN	2991,842		1003,538,447,90,124	85	87	86		2771	-1.7	0	X	dbSNP_92	86	783,5945		26,499,232,1903,1640	yes	missense	FAM47C	NM_001013736.2	65	1029,1037,679,1993,1764	CC,CA,C,AA,A		11.6379,21.9671,35.7353	benign	924/1036	37029254	3774,6787	2202	4300	6502	SO:0001583	missense	442444	exon1			TCCAGAATGCACC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2771A>C	X.37:g.37029254A>C	ENSP00000367913:p.Asn924Thr	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	67	65	0.970149	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	495	0.298372513562387	216	0.7058823529411765	54	0.16981132075471697	37	0.06801470588235294	43	0.05922865013774105	C	0.001	-3.759422	0.00005	0.780329	0.116379	ENSG00000198173	ENST00000358047	T	0.42131	0.98	0.829	-1.66	0.08265	.	.	.	.	.	T	0.00012	0.0000	N	0.00823	-1.155	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45789	-0.9237	7	0.14252	T	0.57	.	.	.	.	rs1995914;rs52815039;rs59553201;rs1995914	924	Q5HY64	FA47C_HUMAN	T	924	ENSP00000367913:N924T	ENSP00000367913:N924T	N	+	2	0	FAM47C	36939175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.842000	0.04354	-4.876000	0.00028	-4.602000	0.00004	AAT	A|0.631;C|0.369	0.369	strong		0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		C	37029254	A	C	37029254	3	2	23	1	0	0	0	0	1	0	0	0	5571	101	4	5	2773	5	FAM47C	23	37029254	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2880372	37029254	118241306	4833	21289										
SYTL5	94122	hgsc.bcm.edu	37	chrX	37935844	37935844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttcttagcaagttcagatcGgcaaccagaggagaaatcat	9	9	3	3	rs12558731	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:37935844G>A	ENST00000357972.5	+	6	1125	c.579G>A	c.(577-579)tcG>tcA	p.S193S	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.S193S|SYTL5_ENST00000297875.2_Silent_p.S193S			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	193					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGTTCAGATCGGCAACCAGAG	0.338													A|||	12	0.00317881	0.0015	0.013	3775	,	,		12229	0.0		0.001	False		,,,				2504	0.0				p.S193S		Atlas-SNP	.											.	SYTL5	72	.	0			c.G579A						PASS	.	A	,,	5,3828		0,4,1,1627,570	68	52	57		579,579,579	5.2	1	X	dbSNP_120	57	75,6653		0,55,20,2373,1852	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	,,	0,59,21,4000,2422	AA,AG,A,GG,G		1.1147,0.1304,0.7575	,,	193/753,193/731,193/731	37935844	80,10481	2202	4300	6502	SO:0001819	synonymous_variant	94122	exon5			CAGATCGGCAACC		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.579G>A	X.37:g.37935844G>A		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	41	40	0.97561	NM_001163334	A2RRF2	Silent	SNP	ENST00000357972.5	37	CCDS14244.1																																																																																			G|0.993;A|0.007	0.007	strong		0.338	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		A	37935844	G	A	37935844	2	1	23	1	0	0	0	0	0	0	0	1	15483	1103	39	1		1	SYTL5	23	37935844	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	906590	37935844	117334716	4834	21290										
BCOR	54880	hgsc.bcm.edu	37	chrX	39932808	39932808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gtggccgggggctggcccacGtgctgaataacggatggtgt	18	9	0	1	rs144606152	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:39932808G>A	ENST00000378444.4	-	4	2019	c.1791C>T	c.(1789-1791)caC>caT	p.H597H	BCOR_ENST00000397354.3_Silent_p.H597H|BCOR_ENST00000378455.4_Silent_p.H597H|BCOR_ENST00000342274.4_Silent_p.H597H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	597					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCTGGCCCACGTGCTGAATAA	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						G|||	63	0.0166887	0.0015	0.0159	3775	,	,		12801	0.0		0.0437	False		,,,				2504	0.0061				p.H597H		Atlas-SNP	.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	.	0			c.C1791T						PASS	.	G	,,,	22,3811		0,19,3,1612,568	68	65	66		1791,1791,1791,1791	-1.4	0.9	X	dbSNP_134	66	372,6356		5,260,102,2163,1770	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	,,,	5,279,105,3775,2338	AA,AG,A,GG,G		5.5291,0.574,3.7307	,,,	597/1722,597/1704,597/1756,597/1722	39932808	394,10167	2202	4300	6502	SO:0001819	synonymous_variant	54880	exon4			GCCCACGTGCTGA	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1791C>T	X.37:g.39932808G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	38	36	0.947368	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																			G|0.963;A|0.037	0.037	strong		0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39932808	G	A	39932808	2	1	23	1	0	0	0	0	0	0	0	1	1386	1136	40	1		1	BCOR	23	39932808	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1996964	39932808	115337752	4835	21291										
SYN1	6853	hgsc.bcm.edu	37	chrX	47466361	47466361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	caccgcacgaccttcaccccAttccgaagaacttccatatc	4	18	1	1	rs1142636	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:47466361A>G	ENST00000295987.7	-	3	634	c.510T>C	c.(508-510)aaT>aaC	p.N170N	SYN1_ENST00000340666.4_Silent_p.N170N	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	170	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CCTTCACCCCATTCCGAAGAA	0.498													G|||	1392	0.368742	0.3616	0.2911	3775	,	,		10146	0.1954		0.2684	False		,,,				2504	0.2505				p.N170N		Atlas-SNP	.											.	SYN1	84	.	0			c.T510C						PASS	.	G	,	1660,2175		312,793,243,527,328	128	104	112		510,510	2.2	1	X	dbSNP_86	112	2547,4181		350,1166,681,912,1191	no	coding-synonymous,coding-synonymous	SYN1	NM_006950.3,NM_133499.2	,	662,1959,924,1439,1519	GG,GA,G,AA,A		37.8567,43.2855,39.8277	,	170/706,170/670	47466361	4207,6356	2203	4300	6503	SO:0001819	synonymous_variant	6853	exon3			CACCCCATTCCGA		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.510T>C	X.37:g.47466361A>G		Somatic	253	2	0.00790514		WXS	Illumina HiSeq	Phase_I	95	90	0.947368	NM_006950	B1AJQ1|O75825|Q5H9A9	Silent	SNP	ENST00000295987.7	37	CCDS14280.1																																																																																			T|0.141;G|0.294;C|0.097;A|0.468	0.294	strong		0.498	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		G	47466361	A	G	47466361	2	3	23	1	0	0	0	0	0	0	0	1	15437	214	8	2		2	SYN1	23	47466361	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	7533553	47466361	107804199	4836	21292										
CFP	5199	hgsc.bcm.edu	37	chrX	47483800	47483800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggtctcccccagaaggtcacGttcttctcgccctgaccttc	8	17	4	2	rs1048118	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:47483800G>A	ENST00000396992.3	-	9	1404	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	CFP_ENST00000247153.3_Silent_p.N428N	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	428	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						AGAAGGTCACGTTCTTCTCGC	0.582													G|||	781	0.206887	0.205	0.1801	3775	,	,		12485	0.0169		0.1759	False		,,,				2504	0.1953				p.N428N		Atlas-SNP	.											.	CFP	43	.	0			c.C1284T						PASS	.	G	,	892,2943		76,596,144,960,427	174	113	134		1284,1284	-10.6	0.3	X	dbSNP_86	134	1624,5104		149,922,404,1357,1468	no	coding-synonymous,coding-synonymous	CFP	NM_001145252.1,NM_002621.2	,	225,1518,548,2317,1895	AA,AG,A,GG,G		24.1379,23.2595,23.819	,	428/470,428/470	47483800	2516,8047	2203	4300	6503	SO:0001819	synonymous_variant	5199	exon9			GGTCACGTTCTTC	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1284C>T	X.37:g.47483800G>A		Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	65	62	0.953846	NM_001145252	O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	CCDS14282.1																																																																																			G|0.777;0|0.004	.	strong		0.582	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		A	47483800	G	A	47483800	2	1	23	1	0	0	0	0	0	0	0	1	3293	1136	40	1		1	CFP	23	47483800	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	17439	47483800	107786760	4837	21293										
TBC1D25	4943	hgsc.bcm.edu	37	chrX	48418659	48418659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cccccagccaagtggcagacGctggttttggtggccacagg	14	13	0	1	rs235836	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:48418659G>A	ENST00000376771.4	+	6	1704	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A201T|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	455				A -> T (in Ref. 2; AAI01818/AAI01820/ AAI25089). {ECO:0000305}.	autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTGGCAGACGCTGGTTTTGG	0.607													A|||	2101	0.556556	0.6089	0.3285	3775	,	,		14249	0.4127		0.3082	False		,,,				2504	0.3497				p.A455T		Atlas-SNP	.											.	TBC1D25	70	.	0			c.G1363A						PASS	.	A	THR/ALA	2926,909		957,587,425,88,146	28	23	25		1363	-7.3	0	X	dbSNP_79	25	2876,3852		481,1133,781,814,1091	yes	missense	TBC1D25	NM_002536.2	58	1438,1720,1206,902,1237	AA,AG,A,GG,G		42.7467,23.7027,45.0724	benign	455/689	48418659	5802,4761	2203	4300	6503	SO:0001583	missense	4943	exon6			GCAGACGCTGGTT	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1363G>A	X.37:g.48418659G>A	ENSP00000365962:p.Ala455Thr	Somatic	227	2	0.00881057		WXS	Illumina HiSeq	Phase_I	109	105	0.963303	NM_002536	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	892	0.5376732971669681	208	0.6459627329192547	80	0.28169014084507044	157	0.3866995073891626	162	0.2691029900332226	A	0.018	-1.479371	0.01035	0.762973	0.427467	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21543	2.0;2.0	4.05	-7.34	0.01427	Rab-GAP/TBC domain (2);	2.072600	0.01690	N	0.026624	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34825	-0.9813	9	0.02654	T	1	2.5694	3.1069	0.06345	0.2791:0.2206:0.3908:0.1095	rs235836	459;397;455	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	T	455;201	ENSP00000365962:A455T;ENSP00000444091:A201T	ENSP00000365962:A455T	A	+	1	0	TBC1D25	48303603	0.000000	0.05858	0.015000	0.15790	0.736000	0.42039	-1.130000	0.03241	-2.436000	0.00553	-0.573000	0.04149	GCT	G|0.441;A|0.559	0.559	strong		0.607	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418659	G	A	48418659	3	1	23	1	0	0	0	0	1	0	0	0	15612	1087	38	1	1385	1	TBC1D25	23	48418659	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	934859	48418659	106851901	4838	21294										
PAGE5	90737	hgsc.bcm.edu	37	chrX	55247817	55247817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgttttcagtgagagataTgagtgagcatgtaacaagat	11	3	1	5	rs61745114	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:55247817T>C	ENST00000289619.5	+	2	307	c.62T>C	c.(61-63)aTg>aCg	p.M21T	PAGE5_ENST00000374955.3_Start_Codon_SNP_p.M1T|PAGE5_ENST00000374952.1_Start_Codon_SNP_p.M1T	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	21										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GTGAGAGATATGAGTGAGCAT	0.363													T|||	7	0.0018543	0.0	0.0	3775	,	,		11913	0.0		0.006	False		,,,				2504	0.001				p.M21T		Atlas-SNP	.											.	PAGE5	20	.	0			c.T62C						PASS	.	T	THR/MET,THR/MET	11,3824		0,11,0,1621,571	98	80	86		2,62	1.1	0	X	dbSNP_129	86	80,6648		0,52,28,2376,1844	yes	missense,missense	PAGE5	NM_001013435.1,NM_130467.3	81,81	0,63,28,3997,2415	CC,CT,C,TT,T		1.1891,0.2868,0.8615	probably-damaging,probably-damaging	1/111,21/131	55247817	91,10472	2203	4300	6503	SO:0001583	missense	90737	exon2			GAGATATGAGTGA	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"cancer/testis antigen family 16, member 1", "cancer/testis antigen family 16, member 2"					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.62T>C	X.37:g.55247817T>C	ENSP00000289619:p.Met21Thr	Somatic	622	0	0		WXS	Illumina HiSeq	Phase_I	278	272	0.978417	NM_130467	Q2NL97|Q5JUL0|Q8WWL9	Missense_Mutation	SNP	ENST00000289619.5	37	CCDS14368.1	4	0.0024110910186859553	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	.	9.512	1.106093	0.20632	0.002868	0.011891	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	T;T;T	0.50813	1.66;1.75;0.73	1.09	1.09	0.20402	.	.	.	.	.	T	0.49081	0.1536	M	0.67397	2.05	0.54753	D	0.999989	D	0.60160	0.987	D	0.66196	0.942	T	0.55205	-0.8177	9	0.87932	D	0	.	4.0529	0.09803	0.0:0.0:0.0:1.0	rs61745114	21	Q96GU1	GGEE1_HUMAN	T	21;1;1	ENSP00000289619:M21T;ENSP00000364093:M1T;ENSP00000364090:M1T	ENSP00000289619:M21T	M	+	2	0	PAGE5	55264542	0.381000	0.25140	0.020000	0.16555	0.069000	0.16628	0.969000	0.29370	0.677000	0.31305	0.231000	0.17811	ATG	T|0.994;C|0.006	0.006	strong		0.363	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467		C	55247817	T	C	55247817	3	2	23	1	0	0	0	0	1	0	0	0	11393	1464	51	2	68	2	PAGE5	23	55247817	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	6829158	55247817	100022743	4839	21295										
HEPH	9843	hgsc.bcm.edu	37	chrX	65427040	65427040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctttggattcctctagttaTggttacattttcctgagcaa	7	8	2	1	rs61746100|rs806607	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:65427040T>C	ENST00000343002.2	+	13	2959	c.2295T>C	c.(2293-2295)taT>taC	p.Y765Y	HEPH_ENST00000374727.3_Silent_p.Y768Y|HEPH_ENST00000336279.5_Silent_p.Y498Y|HEPH_ENST00000519389.1_Silent_p.Y819Y|HEPH_ENST00000419594.1_Silent_p.Y576Y|HEPH_ENST00000441993.2_Silent_p.Y768Y			Q9BQS7	HEPH_HUMAN	hephaestin	765	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTCTAGTTATGGTTACATTT	0.448													C|||	1320	0.349669	0.7141	0.1988	3775	,	,		9954	0.001		0.171	False		,,,				2504	0.0665				p.Y819Y		Atlas-SNP	.											.	HEPH	224	.	0			c.T2457C						PASS	.	C	,,	3276,559		1190,402,494,40,77	114	98	103		2304,1494,2457	3.6	1	X	dbSNP_86	103	1509,5219		122,788,477,1518,1395	no	coding-synonymous,coding-synonymous,coding-synonymous	HEPH	NM_001130860.2,NM_014799.2,NM_138737.3	,,	1312,1190,971,1558,1472	CC,CT,C,TT,T		22.4287,14.5763,45.2996	,,	768/1161,498/892,819/1213	65427040	4785,5778	2203	4300	6503	SO:0001819	synonymous_variant	9843	exon14			TAGTTATGGTTAC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2295T>C	X.37:g.65427040T>C		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	106	106	1	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																				0|0.020;C|0.435	0.435	strong		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		C	65427040	T	C	65427040	2	2	23	1	0	0	0	0	0	0	0	1	7054	1471	51	2		2	HEPH	23	65427040	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	10179223	65427040	89843520	4840	21296										
FAM155B	27112	hgsc.bcm.edu	37	chrX	68725640	68725640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tctgcggccccctgactcccTttcccgtgccccggccgagt	10	20	1	1	rs1171942	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:68725640T>C	ENST00000252338.4	+	1	557	c.515T>C	c.(514-516)cTt>cCt	p.L172P	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	172			L -> P (in dbSNP:rs1171942). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCTGACTCCCTTTCCCGTGCC	0.592													c|||	2428	0.643179	0.6664	0.5029	3775	,	,		7543	0.6111		0.2336	False		,,,				2504	0.3548				p.L172P		Atlas-SNP	.											.	FAM155B	44	.	0			c.T515C						PASS	.		PRO/LEU	3216,615		1162,411,481,58,88	24	30	28		515	1.7	0.9	X	dbSNP_87	28	2199,4526		270,1044,615,1113,1256	yes	missense	FAM155B	NM_015686.2	98	1432,1455,1096,1171,1344	CC,CT,C,TT,T		32.6989,16.0532,48.7022	benign	172/473	68725640	5415,5141	2200	4298	6498	SO:0001583	missense	27112	exon1			ACTCCCTTTCCCG	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.515T>C	X.37:g.68725640T>C	ENSP00000252338:p.Leu172Pro	Somatic	265	2	0.00754717		WXS	Illumina HiSeq	Phase_I	125	119	0.952	NM_015686	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	1017	0.6130198915009042	214	0.722972972972973	115	0.4637096774193548	234	0.6964285714285714	127	0.19538461538461538	C	0.003	-2.570916	0.00133	0.839468	0.326989	ENSG00000130054	ENST00000252338	T	0.42131	0.98	4.7	1.72	0.24424	.	0.680336	0.13754	N	0.365088	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	9	0.22109	T	0.4	2.301	4.9816	0.14168	0.0:0.5568:0.1525:0.2907	rs1171942;rs16989158	172	O75949-2	.	P	172	ENSP00000252338:L172P	ENSP00000252338:L172P	L	+	2	0	FAM155B	68642365	0.067000	0.21026	0.877000	0.34402	0.392000	0.30506	1.452000	0.35156	-0.005000	0.14395	-1.324000	0.01287	CTT	T|0.456;C|0.544	0.544	strong		0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		C	68725640	T	C	68725640	3	2	23	1	0	0	0	0	1	0	0	0	5466	1609	56	3	517	3	FAM155B	23	68725640	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	3298600	68725640	86544920	4841	21297										
CXorf65	158830	hgsc.bcm.edu	37	chrX	70324157	70324157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcaagtcttaccgggacactCgcagggggttcaattataac	11	10	2	0	rs1130009	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:70324157C>T	ENST00000374251.5	-	5	465	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	139										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CCGGGACACTCGCAGGGGGTT	0.507													C|||	422	0.111788	0.0197	0.1326	3775	,	,		13137	0.001		0.2555	False		,,,				2504	0.047				p.A139A		Atlas-SNP	.											.	CXorf65	23	.	0			c.G417A						PASS	.	C		243,3592		11,187,34,1434,537	82	64	70		417	2.1	0	X	dbSNP_86	70	2153,4575		236,1079,602,1113,1270	no	coding-synonymous	CXorf65	NM_001025265.2		247,1266,636,2547,1807	TT,TC,T,CC,C		32.0006,6.3364,22.6829		139/184	70324157	2396,8167	2203	4300	6503	SO:0001819	synonymous_variant	158830	exon5			GACACTCGCAGGG	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.417G>A	X.37:g.70324157C>T		Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	111	104	0.936937	NM_001025265		Silent	SNP	ENST00000374251.5	37	CCDS35324.1																																																																																			0|0.002;T|0.182	0.182	strong		0.507	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		T	70324157	C	T	70324157	2	4	23	1	0	0	0	0	0	0	0	1	4117	871	31	1		1	CXorf65	23	70324157	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	1598517	70324157	84946403	4842	21298										
MED12	9968	hgsc.bcm.edu	37	chrX	70349947	70349947	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcaatgacctgcaagacccAgtgttgagtagtgcccaggc	12	11	0	3	rs5030619	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:70349947A>C	ENST00000374080.3	+	28	3962	c.3930A>C	c.(3928-3930)ccA>ccC	p.P1310P	MED12_ENST00000374102.1_Silent_p.P1310P|MED12_ENST00000333646.6_Silent_p.P1310P			Q93074	MED12_HUMAN	mediator complex subunit 12	1310					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGCAAGACCCAGTGTTGAGTA	0.552			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						.|||	419	0.110993	0.0166	0.1326	3775	,	,		16117	0.001		0.2565	False		,,,				2504	0.047				p.P1310P		Atlas-SNP	.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	.	0			c.A3930C						PASS	.	A		204,3369		12,145,35,1344,536	57	56	57		3930	-4	1	X	dbSNP_113	57	2089,4488		225,1046,593,1111,1220	no	coding-synonymous	MED12	NM_005120.2		237,1191,628,2455,1756	CC,CA,C,AA,A		31.7622,5.7095,22.5911		1310/2178	70349947	2293,7857	2072	4195	6267	SO:0001819	synonymous_variant	9968	exon28			AGACCCAGTGTTG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3930A>C	X.37:g.70349947A>C		Somatic	456	1	0.00219298		WXS	Illumina HiSeq	Phase_I	230	224	0.973913	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1																																																																																			A|0.853;0|0.007	.	strong		0.552	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		C	70349947	A	C	70349947	2	2	23	1	0	0	0	0	0	0	0	1	9428	175	7	5		5	MED12	23	70349947	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	25790	70349947	84920613	4843	21299										
MED12	9968	hgsc.bcm.edu	37	chrX	70351982	70351982	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	atcgaggttttccaacagtcAgcagagacagggtcatcttc	10	10	3	1	rs376058351		TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:70351982A>C	ENST00000374080.3	+	30	4211	c.4179A>C	c.(4177-4179)tcA>tcC	p.S1393S	MED12_ENST00000374102.1_Silent_p.S1393S|MED12_ENST00000333646.6_Silent_p.S1393S			Q93074	MED12_HUMAN	mediator complex subunit 12	1393					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCAACAGTCAGCAGAGACAG	0.512			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.S1393S		Atlas-SNP	.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	.	0			c.A4179C						PASS	.	A		0,3657		0,0,1543,571	83	76	78		4179	-8.8	0.4	X		78	2,6605		0,2,2395,1813	no	coding-synonymous	MED12	NM_005120.2		0,2,3938,2384	CC,CA,AA,A		0.0303,0.0,0.0195		1393/2178	70351982	2,10262	2114	4210	6324	SO:0001819	synonymous_variant	9968	exon30			ACAGTCAGCAGAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4179A>C	X.37:g.70351982A>C		Somatic	429	0	0		WXS	Illumina HiSeq	Phase_I	213	207	0.971831	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1																																																																																			.	.	weak		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		C	70351982	A	C	70351982	2	2	23	1	0	0	0	0	0	0	0	1	9428	175	7	5		5	MED12	23	70351982	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2035	70351982	84918578	4844	21300										
CYLC1	1538	hgsc.bcm.edu	37	chrX	83116204	83116204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	aggggaaatgtctcttccaaGgttgtaagtcctctttttaa	9	7	2	0	rs142474490	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:83116204G>C	ENST00000329312.4	+	1	51	c.14G>C	c.(13-15)aGg>aCg	p.R5T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	5					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCTCTTCCAAGGTTGTAAGTC	0.318													G|||	54	0.0143046	0.0	0.0014	3775	,	,		11318	0.0		0.0139	False		,,,				2504	0.0399				p.R5T		Atlas-SNP	.											.	CYLC1	272	.	0			c.G14C						PASS	.	G	THR/ARG	3,3830		0,2,1,1629,570	90	81	84		14	1.5	0	X	dbSNP_134	84	90,6638		0,63,27,2365,1845	yes	missense	CYLC1	NM_021118.1	71	0,65,28,3994,2415	CC,CG,C,GG,G		1.3377,0.0783,0.8806	probably-damaging	5/652	83116204	93,10468	2202	4300	6502	SO:0001583	missense	1538	exon1			TTCCAAGGTTGTA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.14G>C	X.37:g.83116204G>C	ENSP00000331556:p.Arg5Thr	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	139	138	0.992806	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	13	0.007836045810729355	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010666666666666666	g	5.026	0.190461	0.09547	7.83E-4	0.013377	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49432	0.78	3.33	1.49	0.22878	.	.	.	.	.	T	0.28665	0.0710	N	0.24115	0.695	0.09310	N	1	D;P	0.58268	0.982;0.884	P;P	0.51135	0.66;0.541	T	0.09907	-1.0653	9	0.27082	T	0.32	5.8543	4.5828	0.12267	0.3301:0.0:0.6699:0.0	.	5;5	P35663;F5H4V5	CYLC1_HUMAN;.	T	5	ENSP00000331556:R5T	ENSP00000331556:R5T	R	+	2	0	CYLC1	83002860	0.109000	0.22037	0.029000	0.17559	0.328000	0.28507	0.304000	0.19228	0.259000	0.21709	0.449000	0.29647	AGG	G|0.992;C|0.008	0.008	strong		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		C	83116204	G	C	83116204	3	2	23	1	0	0	0	0	1	0	0	0	4141	1000	35	4	16	4	CYLC1	23	83116204	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	12764222	83116204	72154356	4845	21301										
CPXCR1	53336	hgsc.bcm.edu	37	chrX	88008807	88008807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccccataaatcacaaaactcGttttcgactttcaacttcat	2	13	3	0	rs5984611	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:88008807G>A	ENST00000276127.4	+	3	651	c.392G>A	c.(391-393)cGt>cAt	p.R131H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R131H	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	131			R -> H (in dbSNP:rs5984611). {ECO:0000269|PubMed:11499681}.				metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CACAAAACTCGTTTTCGACTT	0.373													G|||	870	0.230464	0.1392	0.2017	3775	,	,		14154	0.0298		0.2684	False		,,,				2504	0.2515				p.R131H		Atlas-SNP	.											.	CPXCR1	83	.	0			c.G392A						PASS	.	G	HIS/ARG,HIS/ARG	696,3139		50,473,123,1109,448	53	47	49		392,392	0.1	0	X	dbSNP_114	49	2782,3946		410,1184,778,834,1094	yes	missense,missense	CPXCR1	NM_001184771.1,NM_033048.5	29,29	460,1657,901,1943,1542	AA,AG,A,GG,G		41.3496,18.1486,32.9263	probably-damaging,probably-damaging	131/302,131/302	88008807	3478,7085	2203	4300	6503	SO:0001583	missense	53336	exon3			AAACTCGTTTTCG	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.392G>A	X.37:g.88008807G>A	ENSP00000276127:p.Arg131His	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	57	57	1	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	386	0.2326702833031947	58	0.13063063063063063	52	0.16455696202531644	13	0.023297491039426525	140	0.22580645161290322	G	10.91	1.483747	0.26598	0.181486	0.413496	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.46819	0.86;0.86	3.06	0.0957	0.14486	.	1.106060	0.07158	N	0.850257	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	D	0.65815	0.995	P	0.45881	0.496	T	0.33085	-0.9882	8	.	.	.	0.0	4.5942	0.12322	0.0:0.3717:0.4741:0.1542	rs5984611;rs17253963;rs52813984;rs57073371;rs5984611	131	Q8N123	CPXCR_HUMAN	H	131	ENSP00000276127:R131H;ENSP00000362203:R131H	.	R	+	2	0	CPXCR1	87895463	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.426000	0.07008	-0.091000	0.12440	-0.223000	0.12442	CGT	0|0.003;A|0.269	0.269	strong		0.373	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		A	88008807	G	A	88008807	3	1	23	1	0	0	0	0	1	0	0	0	3836	1145	40	1	394	1	CPXCR1	23	88008807	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	4892603	88008807	67261753	4846	21302										
NAP1L3	4675	hgsc.bcm.edu	37	chrX	92927728	92927728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ttttctttagggttttcttcTtcctcaccctctaagggagg	8	10	5	0			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:92927728T>C	ENST00000373079.3	-	1	839	c.576A>G	c.(574-576)gaA>gaG	p.E192E	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.E185E|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	192	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGTTTTCTTCTTCCTCACCCT	0.438																																					p.E192E		Atlas-SNP	.											.	NAP1L3	81	.	0			c.A576G						PASS	.						80	79	79					X																	92927728		2203	4300	6503	SO:0001819	synonymous_variant	4675	exon1			TTCTTCTTCCTCA		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.576A>G	X.37:g.92927728T>C		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	78	5	0.0641026	NM_004538	B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	CCDS14465.1																																																																																			.	.	none		0.438	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		C	92927728	T	C	92927728	2	2	23	1	0	0	0	0	0	0	0	1	10158	1606	56	3		3	NAP1L3	23	92927728	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	4918921	92927728	62342832	4847	21303										
PCDH19	57526	hgsc.bcm.edu	37	chrX	99663194	99663194	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcctccgagatctccagctcGatctgtgctgccgggaaact	11	14	2	1	rs41300169	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:99663194G>T	ENST00000373034.4	-	1	2077	c.402C>A	c.(400-402)atC>atA	p.I134I	PCDH19_ENST00000420881.2_Silent_p.I134I|PCDH19_ENST00000255531.7_Silent_p.I134I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	134	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTCCAGCTCGATCTGTGCTG	0.582													G|||	606	0.16053	0.0272	0.1844	3775	,	,		13549	0.2044		0.0368	False		,,,				2504	0.2035				p.I134I		Atlas-SNP	.											.	PCDH19	269	.	0			c.C402A						PASS	.	G	,,	126,3562		2,104,18,1453,552	112	107	109		402,402,402	-11.4	0	X	dbSNP_127	109	360,6268		4,235,117,2160,1713	no	coding-synonymous,coding-synonymous,coding-synonymous	PCDH19	NM_001105243.1,NM_001184880.1,NM_020766.2	,,	6,339,135,3613,2265	TT,TG,T,GG,G		5.4315,3.4165,4.7111	,,	134/1102,134/1149,134/1101	99663194	486,9830	2129	4229	6358	SO:0001819	synonymous_variant	57526	exon1			CAGCTCGATCTGT	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.402C>A	X.37:g.99663194G>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	78	78	1	NM_001184880	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																			G|0.871;T|0.129	0.129	strong		0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		T	99663194	G	T	99663194	2	4	23	1	0	0	0	0	0	0	0	1	11514	1048	37	4		4	PCDH19	23	99663194	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	6735466	99663194	55607366	4848	21304										
TSPAN6	7105	hgsc.bcm.edu	37	chrX	99890204	99890204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gaaaacaaatcctacgatggCagcgaccagttcgaccaaaa	8	11	0	0	rs1802288	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:99890204C>T	ENST00000373020.4	-	3	433	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	108			A -> T (in dbSNP:rs1802288). {ECO:0000269|PubMed:12761501}.		negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CCTACGATGGCAGCGACCAGT	0.378													C|||	201	0.053245	0.003	0.0562	3775	,	,		13734	0.0		0.1461	False		,,,				2504	0.0112				p.A108T		Atlas-SNP	.											.	TSPAN6	23	.	0			c.G322A						PASS	.	C	THR/ALA	126,3706		2,102,20,1528,548	83	60	68		322	4	1	X	dbSNP_89	68	1147,5573		63,699,322,1666,1542	yes	missense	TSPAN6	NM_003270.2	58	65,801,342,3194,2090	TT,TC,T,CC,C		17.0685,3.2881,12.0641	possibly-damaging	108/246	99890204	1273,9279	2200	4292	6492	SO:0001583	missense	7105	exon3			CGATGGCAGCGAC	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.322G>A	X.37:g.99890204C>T	ENSP00000362111:p.Ala108Thr	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	107	103	0.962617	NM_003270	Q54A42|Q6IAN9	Missense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1	137	0.08257986738999397	2	0.0040650406504065045	20	0.056179775280898875	0	0.0	81	0.11637931034482758	C	28.0	4.883948	0.91814	0.032881	0.170685	ENSG00000000003	ENST00000373020;ENST00000431386	T	0.81415	-1.49	4.93	4.03	0.46877	.	0.270215	0.41605	D	0.000842	T	0.01189	0.0039	M	0.62154	1.92	0.21256	P	0.999745475	D	0.59357	0.985	P	0.62298	0.9	T	0.31194	-0.9952	8	.	.	.	.	12.7618	0.57370	0.1637:0.8363:0.0:0.0	rs1802288;rs2234090;rs17323283;rs52820290;rs57629276;rs1802288	108	O43657	TSN6_HUMAN	T	108;90	ENSP00000362111:A108T	.	A	-	1	0	TSPAN6	99776860	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.520000	0.67080	2.298000	0.77334	0.523000	0.50628	GCC	0|0.015;T|0.099	0.099	strong		0.378	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			T	99890204	C	T	99890204	3	4	23	1	0	0	0	0	1	0	0	0	16648	710	25	2	435	2	TSPAN6	23	99890204	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	227010	99890204	55380356	4849	21305										
TCEAL4	79921	hgsc.bcm.edu	37	chrX	102842041	102842041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gagtataaagaggccatacaTgatatgaatttcagcaatga	9	5	1	4	rs11010	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:102842041T>C	ENST00000472745.1	+	3	990	c.438T>C	c.(436-438)caT>caC	p.H146H	TCEAL4_ENST00000468024.1_Silent_p.H146H|TCEAL4_ENST00000415568.2_Silent_p.H146H|TCEAL4_ENST00000472484.1_Silent_p.H146H|TCEAL4_ENST00000494801.1_Silent_p.H146H|TCEAL4_ENST00000372629.4_Silent_p.H289H			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						AGGCCATACATGATATGAATT	0.423													C|||	977	0.258808	0.357	0.1686	3775	,	,		16721	0.0308		0.2515	False		,,,				2504	0.1063				p.H146H		Atlas-SNP	.											.	TCEAL4	18	.	0			c.T438C						PASS	.	C	,,	1737,2098		333,820,251,479,320	122	125	124		438,438,438	-8	0	X	dbSNP_52	124	2459,4269		343,1084,689,1001,1183	no	coding-synonymous,coding-synonymous,coding-synonymous	TCEAL4	NM_001006935.1,NM_001006937.1,NM_024863.4	,,	676,1904,940,1480,1503	CC,CT,C,TT,T		36.5488,45.2934,39.7236	,,	146/216,146/216,146/216	102842041	4196,6367	2203	4300	6503	SO:0001819	synonymous_variant	79921	exon3			CATACATGATATG	AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.438T>C	X.37:g.102842041T>C		Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	52	52	1	NM_001006935	Q8WY12|Q9H2H1|Q9H775	Silent	SNP	ENST00000472745.1	37	CCDS14510.2																																																																																			0|0.006;C|0.292	0.292	strong		0.423	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		C	102842041	T	C	102842041	2	2	23	1	0	0	0	0	0	0	0	1	15670	1461	51	2		2	TCEAL4	23	102842041	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	2951837	102842041	52428519	4850	21306										
GLRA4	441509	hgsc.bcm.edu	37	chrX	102978806	102978806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ctctcaagctgcatcgtgcaGgtctggatgtccatggggaa	13	10	2	0	rs5945807	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:102978806G>C	ENST00000372617.4	-	5	975	c.555C>G	c.(553-555)acC>acG	p.T185T	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	185						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCATCGTGCAGGTCTGGATGT	0.493													G|||	602	0.15947	0.0287	0.1412	3775	,	,		15940	0.0079		0.2594	False		,,,				2504	0.2014				p.T185T		Atlas-SNP	.											.	GLRA4	86	.	0			c.C555G						PASS	.	G	,	255,3201		12,191,40,1240,530	114	104	107		555,555	-2.6	1	X	dbSNP_114	107	2449,4069		338,1067,706,952,1098	no	coding-synonymous,coding-synonymous	GLRA4	NM_001024452.2,NM_001172285.1	,	350,1258,746,2192,1628	CC,CG,C,GG,G		37.5729,7.3785,27.1105	,	185/418,185/343	102978806	2704,7270	2013	4161	6174	SO:0001819	synonymous_variant	441509	exon5			CGTGCAGGTCTGG	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.555C>G	X.37:g.102978806G>C		Somatic	650	1	0.00153846		WXS	Illumina HiSeq	Phase_I	306	299	0.977124	NM_001024452		Silent	SNP	ENST00000372617.4	37	CCDS43980.2																																																																																			0|0.009;C|0.169	0.169	strong		0.493	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		C	102978806	G	C	102978806	2	2	23	1	0	0	0	0	0	0	0	1	6457	987	35	4		4	GLRA4	23	102978806	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	136765	102978806	52291754	4851	21307										
VSIG1	340547	hgsc.bcm.edu	37	chrX	107320447	107320447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agcctgccccagagcctgccCcaggatcagagcctatggca	11	16	1	2			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:107320447C>T	ENST00000217957.5	+	7	1117	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	VSIG1_ENST00000415430.3_Missense_Mutation_p.P370S	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	334						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						agagcctgccccagGATCAGA	0.562																																					p.P370S		Atlas-SNP	.											.	VSIG1	126	.	0			c.C1108T						PASS	.						75	69	71					X																	107320447		2203	4300	6503	SO:0001583	missense	340547	exon8			CCTGCCCCAGGAT	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1000C>T	X.37:g.107320447C>T	ENSP00000217957:p.Pro334Ser	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	71	4	0.056338	NM_001170553	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103573	0.08731	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.61274	0.12;0.12	3.5	-7.0	0.01599	.	1.931450	0.02302	N	0.071290	T	0.38427	0.1040	L	0.43152	1.355	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.48445	-0.9035	10	0.05436	T	0.98	.	3.3355	0.07100	0.1048:0.1372:0.4102:0.3478	.	370;334	C9J4P2;Q86XK7	.;VSIG1_HUMAN	S	370;334	ENSP00000402219:P370S;ENSP00000217957:P334S	ENSP00000217957:P334S	P	+	1	0	VSIG1	107207103	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.489000	0.00226	-2.917000	0.00306	-4.471000	0.00005	CCA	.	.	none		0.562	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		T	107320447	C	T	107320447	3	4	23	1	0	0	0	0	1	0	0	0	17219	623	22	2	1138	2	VSIG1	23	107320447	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	4341641	107320447	47950113	4852	21308										
GUCY2F	2986	hgsc.bcm.edu	37	chrX	108708552	108708552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tataaggtaaactgtagagcAgggcatcataaggaacaaag	11	5	1	1	rs12008095	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:108708552A>G	ENST00000218006.2	-	3	1142	c.851T>C	c.(850-852)cTg>cCg	p.L284P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	284			L -> P (in dbSNP:rs12008095). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACTGTAGAGCAGGGCATCATA	0.478													A|||	611	0.161854	0.0113	0.1412	3775	,	,		15658	0.0377		0.2913	False		,,,				2504	0.1708				p.L284P		Atlas-SNP	.											.	GUCY2F	178	.	0			c.T851C						PASS	.	A	PRO/LEU	273,3562		7,222,37,1403,534	176	137	151		851	3.9	1	X	dbSNP_120	151	2470,4258		318,1142,692,968,1180	yes	missense	GUCY2F	NM_001522.2	98	325,1364,729,2371,1714	GG,GA,G,AA,A		36.7122,7.1186,25.968	probably-damaging	284/1109	108708552	2743,7820	2203	4300	6503	SO:0001583	missense	2986	exon3			TAGAGCAGGGCAT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.851T>C	X.37:g.108708552A>G	ENSP00000218006:p.Leu284Pro	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	108	108	1	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	319	0.19228450874020495	5	0.0102880658436214	43	0.1303030303030303	9	0.016129032258064516	162	0.26557377049180325	A	18.24	3.579314	0.65878	0.071186	0.367122	ENSG00000101890	ENST00000218006	D	0.83837	-1.77	3.94	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	T	0.00012	0.0000	M	0.79475	2.455	0.09310	P	0.999999999739281	P	0.51240	0.943	P	0.58577	0.841	T	0.00542	-1.1680	9	0.35671	T	0.21	.	10.183	0.42980	1.0:0.0:0.0:0.0	rs12008095;rs52818490;rs57978660;rs12008095	284	P51841	GUC2F_HUMAN	P	284	ENSP00000218006:L284P	ENSP00000218006:L284P	L	-	2	0	GUCY2F	108595208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.579000	0.90781	1.764000	0.52075	0.486000	0.48141	CTG	A|0.790;0|0.012	.	strong		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		G	108708552	A	G	108708552	3	3	23	1	0	0	0	0	1	0	0	0	6898	188	7	3	2543	3	GUCY2F	23	108708552	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	1388105	108708552	46562008	4853	21309										
KLHL13	90293	hgsc.bcm.edu	37	chrX	117053499	117053499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttaccccagatatgagaaaCactttacagaagtccaaaac	5	11	0	3	rs6645994	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:117053499C>T	ENST00000262820.3	-	4	1464	c.555G>A	c.(553-555)gtG>gtA	p.V185V	KLHL13_ENST00000371878.1_Silent_p.V134V|KLHL13_ENST00000371882.1_Silent_p.V134V|KLHL13_ENST00000540167.1_Silent_p.V169V|KLHL13_ENST00000545703.1_Silent_p.V143V|KLHL13_ENST00000539496.1_Silent_p.V188V|KLHL13_ENST00000541812.1_Silent_p.V169V|KLHL13_ENST00000469946.1_Silent_p.V134V|KLHL13_ENST00000371876.1_Silent_p.V134V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	185					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATATGAGAAACACTTTACAGA	0.403													T|||	956	0.253245	0.6142	0.0793	3775	,	,		12883	0.0		0.0537	False		,,,				2504	0.0358				p.V188V		Atlas-SNP	.											.	KLHL13	87	.	0			c.G564A						PASS	.	T	,,,,,	2628,1207		767,687,407,178,164	72	84	80		564,537,507,507,429,555	-7.5	0.6	X	dbSNP_116	80	513,6215		22,320,149,2086,1723	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL13	NM_001168299.1,NM_001168300.1,NM_001168301.1,NM_001168302.1,NM_001168303.1,NM_033495.3	,,,,,	789,1007,556,2264,1887	TT,TC,T,CC,C		7.6249,31.4733,29.7359	,,,,,	188/659,179/650,169/640,169/640,143/614,185/656	117053499	3141,7422	2203	4300	6503	SO:0001819	synonymous_variant	90293	exon5			GAGAAACACTTTA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.555G>A	X.37:g.117053499C>T		Somatic	393	0	0		WXS	Illumina HiSeq	Phase_I	132	129	0.977273	NM_001168299	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																			C|0.688;0|0.003	.	strong		0.403	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117053499	C	T	117053499	2	4	23	1	0	0	0	0	0	0	0	1	8369	465	17	2		2	KLHL13	23	117053499	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	8344947	117053499	38217061	4854	21310										
DOCK11	139818	hgsc.bcm.edu	37	chrX	117722176	117722176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	attactgtggaggttgaagaGtttgttccagaaatgacaaa	11	4	0	4	rs41312765	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:117722176G>A	ENST00000276202.7	+	17	1935	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	DOCK11_ENST00000276204.6_Silent_p.E624E	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	624					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAAGAGTTTGTTCCAG	0.328													G|||	283	0.0749669	0.0053	0.0548	3775	,	,		13491	0.005		0.1163	False		,,,				2504	0.1186				p.E624E		Atlas-SNP	.											.	DOCK11	185	.	0			c.G1872A						PASS	.	G		86,3745		1,68,16,1561,555	92	87	89		1872	4	1	X	dbSNP_127	89	876,5851		36,546,258,1846,1613	no	coding-synonymous	DOCK11	NM_144658.3		37,614,274,3407,2168	AA,AG,A,GG,G		13.0221,2.2448,9.1116		624/2074	117722176	962,9596	2201	4299	6500	SO:0001819	synonymous_variant	139818	exon17			TGAAGAGTTTGTT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1872G>A	X.37:g.117722176G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	84	84	1	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																			G|0.917;A|0.083	0.083	strong		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		A	117722176	G	A	117722176	2	1	23	1	0	0	0	0	0	0	0	1	4686	1020	36	2		2	DOCK11	23	117722176	Silent	SNP	G	TCGA-GR-7353-01A-11D-2210-10	668677	117722176	37548384	4855	21311										
DCAF12L2	340578	hgsc.bcm.edu	37	chrX	125299467	125299467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	gcatggatgccgcagccctgGtgggcctgggccagcccggc	17	15	0	0	rs10126452	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:125299467G>T	ENST00000360028.2	-	1	467	c.441C>A	c.(439-441)caC>caA	p.H147Q	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.H147Q			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	147			H -> Q (in dbSNP:rs10126452).							NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCAGCCCTGGTGGGCCTGGG	0.642													T|||	2113	0.559735	0.6293	0.4294	3775	,	,		11489	0.3859		0.2525	False		,,,				2504	0.3476				p.H147Q		Atlas-SNP	.											.	DCAF12L2	157	.	0			c.C441A						PASS	.	T	GLN/HIS	2959,876		974,575,436,83,135	76	79	78		441	-2.2	0	X	dbSNP_119	78	2000,4726		221,987,571,1219,1301	no	missense	DCAF12L2	NM_001013628.2	24	1195,1562,1007,1302,1436	TT,TG,T,GG,G		29.7354,22.8422,46.9558	benign	147/464	125299467	4959,5602	2203	4299	6502	SO:0001583	missense	340578	exon1			GCCCTGGTGGGCC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.441C>A	X.37:g.125299467G>T	ENSP00000353128:p.His147Gln	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	142	142	1	NM_001013628	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	863	0.5201928872814949	218	0.7077922077922078	100	0.36231884057971014	146	0.35784313725490197	131	0.19969512195121952	t	0.001	-3.105942	0.00033	0.771578	0.297354	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.25250	1.81;1.81	3.89	-2.22	0.06952	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	8	0.02654	T	1	.	0.7994	0.01072	0.1634:0.2374:0.3197:0.2795	rs10126452;rs61089575	147	Q5VW00	DC122_HUMAN	Q	147	ENSP00000441489:H147Q;ENSP00000353128:H147Q	ENSP00000353128:H147Q	H	-	3	2	DCAF12L2	125127148	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	0.736000	0.26130	-0.650000	0.05423	-3.105000	0.00063	CAC	G|0.479;T|0.521	0.521	strong		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299467	G	T	125299467	3	4	23	1	0	0	0	0	1	0	0	0	4265	1252	44	4	954	4	DCAF12L2	23	125299467	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	7577291	125299467	29971093	4856	21312										
ZNF75D	7626	hgsc.bcm.edu	37	chrX	134421168	134421168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttctcttgcataagctacaCgtataaggctgctcacctgt	7	11	2	0	rs1129093	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:134421168C>T	ENST00000370766.3	-	7	4143	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.T383T	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	478					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATAAGCTACACGTATAAGGCT	0.433													C|||	559	0.148079	0.0166	0.1772	3775	,	,		14789	0.0367		0.3201	False		,,,				2504	0.0562				p.T478T		Atlas-SNP	.											.	ZNF75D	65	.	0			c.G1434A						PASS	.	C	,	270,3565		10,209,41,1413,530	144	127	133		1149,1434	-6.5	0	X	dbSNP_86	133	2851,3877		445,1201,760,782,1112	no	coding-synonymous,coding-synonymous	ZNF75D	NM_001185063.1,NM_007131.3	,	455,1410,801,2195,1642	TT,TC,T,CC,C		42.3751,7.0404,29.5465	,	383/416,478/511	134421168	3121,7442	2203	4300	6503	SO:0001819	synonymous_variant	7626	exon6			GCTACACGTATAA	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1434G>A	X.37:g.134421168C>T		Somatic	270	1	0.0037037		WXS	Illumina HiSeq	Phase_I	148	146	0.986486	NM_007131	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	ENST00000370766.3	37	CCDS14648.1																																																																																			0|0.005;T|0.219	0.219	strong		0.433	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		T	134421168	C	T	134421168	2	4	23	1	0	0	0	0	0	0	0	1	18131	523	19	1		1	ZNF75D	23	134421168	Silent	SNP	C	TCGA-GR-7353-01A-11D-2210-10	9121701	134421168	20849392	4857	21313										
SAGE1	55511	hgsc.bcm.edu	37	chrX	134990000	134990000	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ccatgagtaccagggatcagCgtaagtttgtttactagttg	11	7	1	1	rs41301507	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:134990000C>T	ENST00000370709.3	+	9	1159	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	SAGE1_ENST00000324447.3_Splice_Site_p.H387Y|SAGE1_ENST00000535938.1_Splice_Site_p.H387Y|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	387						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAGGGATCAGCGTAAGTTTGT	0.428													c|||	207	0.0548344	0.0204	0.0346	3775	,	,		18537	0.0397		0.0527	False		,,,				2504	0.0644				p.H387Y		Atlas-SNP	.											.	SAGE1	160	.	0			c.C1159T						PASS	.	C	TYR/HIS	234,3601		6,195,27,1431,544	179	151	160		1159		0	X	dbSNP_127	160	487,6239		13,337,124,2077,1748	yes	missense-near-splice	SAGE1	NM_018666.2	83	19,532,151,3508,2292	TT,TC,T,CC,C		7.2406,6.1017,6.827	benign	387/905	134990000	721,9840	2203	4299	6502	SO:0001630	splice_region_variant	55511	exon10			GATCAGCGTAAGT	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1159+1C>T	X.37:g.134990000C>T		Somatic	424	0	0		WXS	Illumina HiSeq	Phase_I	191	187	0.979058	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	84	0.05063291139240506	10	0.020491803278688523	8	0.022857142857142857	14	0.025179856115107913	22	0.030136986301369864	C	0.001	-3.245180	0.00022	0.061017	0.072406	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.48201	0.82;0.82;0.82	.	.	.	.	0.137514	0.47455	U	0.000240	T	0.00784	0.0026	N	0.01576	-0.805	0.80722	P	0.0	B	0.15473	0.013	B	0.06405	0.002	T	0.12656	-1.0539	7	0.02654	T	1	.	.	.	.	rs41301507	387	Q9NXZ1	SAGE1_HUMAN	Y	387	ENSP00000323191:H387Y;ENSP00000445959:H387Y;ENSP00000359743:H387Y	ENSP00000323191:H387Y	H	+	1	0	SAGE1	134817666	0.003000	0.15002	0.009000	0.14445	0.037000	0.13140	-1.917000	0.01575	-1.344000	0.02216	-1.330000	0.01273	CAT	C|0.937;T|0.063	0.063	strong		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	Missense_Mutation	T	134990000	C	T	134990000	5	4	23	1	0	0	0	0	0	0	1	0	13809	782	27	1	1193	1	SAGE1	23	134990000	Splice_Site	SNP	C	TCGA-GR-7353-01A-11D-2210-10	568832	134990000	20280560	4858	21314										
MAMLD1	10046	hgsc.bcm.edu	37	chrX	149638920	149638920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cactgccaccaccaccacccCcattcagcccccagagcctc	4	24	1	1	rs41313406	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:149638920C>T	ENST00000370401.2	+	4	1385	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334S|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	359	Poly-Pro.		P -> S (in dbSNP:rs41313406). {ECO:0000269|PubMed:17086185}.		male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					accaccacccccaTTCAGCCC	0.612													C|||	154	0.0407947	0.003	0.049	3775	,	,		13714	0.001		0.1004	False		,,,				2504	0.0143				p.P359S		Atlas-SNP	.											.	MAMLD1	263	.	0			c.C1075T						PASS	.	C	SER/PRO,SER/PRO,SER/PRO	68,3766		0,58,10,1574,560	83	66	72		1000,1000,1075	0.3	0	X	dbSNP_127	72	846,5882		33,550,230,1845,1642	yes	missense,missense,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	74,74,74	33,608,240,3419,2202	TT,TC,T,CC,C		12.5743,1.7736,8.6537	probably-damaging,probably-damaging,probably-damaging	334/999,334/750,359/775	149638920	914,9648	2202	4300	6502	SO:0001583	missense	10046	exon3			CCACCCCCATTCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1075C>T	X.37:g.149638920C>T	ENSP00000359428:p.Pro359Ser	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	69	68	0.985507	NM_005491	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	108	0.0650994575045208	3	0.006122448979591836	18	0.05142857142857143	0	0.0	49	0.07040229885057471	C	2.468	-0.322517	0.05350	0.017736	0.125743	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	1.18	0.275	0.15659	.	0.161882	0.29699	N	0.011432	T	0.02047	0.0064	M	0.71581	2.175	0.80722	P	0.0	D;D;B;P	0.89917	1.0;1.0;0.341;0.775	D;D;B;B	0.87578	0.998;0.998;0.086;0.306	T	0.45991	-0.9223	8	.	.	.	-0.7732	3.3336	0.07093	0.0:0.6971:0.0:0.3029	rs41313406	321;334;334;359	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	S	321;359;334;359;334	ENSP00000359428:P359S;ENSP00000414517:P334S;ENSP00000262858:P359S;ENSP00000397438:P334S	.	P	+	1	0	MAMLD1	149389578	0.049000	0.20398	0.000000	0.03702	0.032000	0.12392	1.043000	0.30316	0.019000	0.15079	-0.191000	0.12829	CCA	C|0.927;T|0.073	0.073	strong		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149638920	C	T	149638920	3	4	23	1	0	0	0	0	1	0	0	0	9208	623	22	2	1085	2	MAMLD1	23	149638920	Missense_Mutation	SNP	C	TCGA-GR-7353-01A-11D-2210-10	14648920	149638920	5631640	4859	21315										
CNGA2	1260	hgsc.bcm.edu	37	chrX	150909307	150909307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	cttggacccagctggggattGgtactactgctggctatttg	13	9	0	0	rs35350051	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:150909307G>T	ENST00000329903.4	+	4	449	c.416G>T	c.(415-417)tGg>tTg	p.W139L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	139			W -> L (in dbSNP:rs35350051).		phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGGGATTGGTACTACTGC	0.552													G|||	457	0.12106	0.0068	0.1081	3775	,	,		13777	0.1974		0.0954	False		,,,				2504	0.0798				p.W139L		Atlas-SNP	.											.	CNGA2	136	.	0			c.G416T						PASS	.	G	LEU/TRP	108,3727		1,91,15,1540,556	212	183	193		416	5.4	1	X	dbSNP_126	193	986,5742		59,595,273,1774,1599	yes	missense	CNGA2	NM_005140.1	61	60,686,288,3314,2155	TT,TG,T,GG,G		14.6552,2.8162,10.3569	benign	139/665	150909307	1094,9469	2203	4300	6503	SO:0001583	missense	1260	exon5			GGGATTGGTACTA	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.416G>T	X.37:g.150909307G>T	ENSP00000328478:p.Trp139Leu	Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	95	93	0.978947	NM_005140	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	196	0.11814345991561181	5	0.01020408163265306	25	0.07352941176470588	58	0.11372549019607843	50	0.06868131868131869	G	1.518	-0.547556	0.04024	0.028162	0.146552	ENSG00000183862	ENST00000329903	D	0.97161	-4.27	5.44	5.44	0.79542	.	0.329033	0.34133	N	0.004228	T	0.05273	0.0140	N	0.04724	-0.175	0.32707	P	0.512141	B	0.06786	0.001	B	0.06405	0.002	T	0.68678	-0.5345	9	0.09843	T	0.71	.	15.5522	0.76161	0.0:0.0:1.0:0.0	rs35350051	139	Q16280	CNGA2_HUMAN	L	139	ENSP00000328478:W139L	ENSP00000328478:W139L	W	+	2	0	CNGA2	150659963	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	2.216000	0.42871	2.267000	0.75376	0.544000	0.68410	TGG	G|0.898;T|0.102	0.102	strong		0.552	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		T	150909307	G	T	150909307	3	4	23	1	0	0	0	0	1	0	0	0	3597	1357	47	4	430	4	CNGA2	23	150909307	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	1270387	150909307	4361253	4860	21316										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153420176	153420176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcatcccactcgctatcatcAtgctctgctacctccaagtg	5	16	4	0	rs78093925	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:153420176A>G	ENST00000369951.4	+	4	766	c.706A>G	c.(706-708)Atg>Gtg	p.M236V	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	236					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTATCATCATGCTCTGCTA	0.612													G|||	565	0.149669	0.3192	0.0562	3775	,	,		12001	0.0129		0.0616	False		,,,				2504	0.0297				p.M236V		Atlas-SNP	.											.	OPN1LW	87	.	0			c.A706G						PASS	.	G	VAL/MET	1403,2417		217,767,202,647,356	308	226	254		706	-3	0.2	X	dbSNP_131	254	634,6044		36,376,186,2014,1640	yes	missense	OPN1LW	NM_020061.4	21	253,1143,388,2661,1996	GG,GA,G,AA,A		9.4939,36.7277,19.4037	benign	236/365	153420176	2037,8461	2189	4252	6441	SO:0001583	missense	5956	exon4			ATCATCATGCTCT	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.706A>G	X.37:g.153420176A>G	ENSP00000358967:p.Met236Val	Somatic	639	1	0.00156495		WXS	Illumina HiSeq	Phase_I	319	314	0.984326	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	210	0.12658227848101267	88	0.2233502538071066	12	0.03428571428571429	4	0.007017543859649123	33	0.04583333333333333	G	0.007	-1.991273	0.00439	0.367277	0.094939	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.70282	-0.47;-0.47	4.27	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.428458	0.24742	N	0.035968	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.40459	-0.9562	9	0.25106	T	0.35	.	7.105	0.25358	0.3272:0.3964:0.2763:0.0	.	236	P04000	OPSR_HUMAN	V	236;99	ENSP00000358967:M236V;ENSP00000402493:M99V	ENSP00000358967:M236V	M	+	1	0	OPN1LW	153073370	0.000000	0.05858	0.239000	0.24122	0.134000	0.20937	-1.488000	0.02308	-0.716000	0.04962	-0.775000	0.03384	ATG	A|0.814;G|0.186	0.186	strong		0.612	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		G	153420176	A	G	153420176	3	3	23	1	0	0	0	0	1	0	0	0	10877	217	8	2	720	2	OPN1LW	23	153420176	Missense_Mutation	SNP	A	TCGA-GR-7353-01A-11D-2210-10	2510869	153420176	1850384	4861	21317										
OPN1LW	5956	hgsc.bcm.edu	37	chrX	153421912	153421912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tttgctgctgccaaccctggTtacgccttccaccctttgat	7	15	0	1	rs1065439	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:153421912T>C	ENST00000369951.4	+	5	948	c.888T>C	c.(886-888)ggT>ggC	p.G296G		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	296					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACCCTGGTTACGCCTTCC	0.537													C|||	566	0.149934	0.3245	0.0548	3775	,	,		14896	0.0159		0.0606	False		,,,				2504	0.0225				p.G296G		Atlas-SNP	.											.	OPN1LW	87	.	0			c.T888C						PASS	.	C		1383,2445		200,780,203,652,361	392	348	363		888	4.6	1	X	dbSNP_86	363	609,6091		23,378,185,2027,1659	no	coding-synonymous	OPN1LW	NM_020061.4		223,1158,388,2679,2020	CC,CT,C,TT,T		9.0896,36.1285,18.921		296/365	153421912	1992,8536	2196	4272	6468	SO:0001819	synonymous_variant	5956	exon5			CCCTGGTTACGCC	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.888T>C	X.37:g.153421912T>C		Somatic	695	2	0.0028777		WXS	Illumina HiSeq	Phase_I	352	345	0.980114	NM_020061		Silent	SNP	ENST00000369951.4	37	CCDS14742.1																																																																																			0|0.004;C|0.185	0.185	strong		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		C	153421912	T	C	153421912	2	2	23	1	0	0	0	0	0	0	0	1	10877	1712	60	2		2	OPN1LW	23	153421912	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	1736	153421912	1848648	4862	21318										
FLNA	2316	hgsc.bcm.edu	37	chrX	153581932	153581932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tgccacccacctgtgacccgAgcagtgaaggggctgcctgg	14	14	0	2	rs2070825	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:153581932A>G	ENST00000369850.3	-	36	6086	c.5850T>C	c.(5848-5850)gcT>gcC	p.A1950A	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Silent_p.A1910A|FLNA_ENST00000360319.4_Silent_p.A1942A|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000422373.1_Silent_p.A1942A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1950					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTGACCCGAGCAGTGAAGG	0.617													.|||	959	0.25404	0.4259	0.134	3775	,	,		15156	0.0665		0.0626	False		,,,				2504	0.1769				p.A1950A		Atlas-SNP	.											.	FLNA	373	.	0			c.T5850C						PASS	.	G	,	1867,1955		392,795,288,439,282	59	65	63		5850,5826	3.9	1	X	dbSNP_96	63	704,6012		21,467,195,1939,1667	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	413,1262,483,2378,1949	GG,GA,G,AA,A		10.4824,48.8488,24.3974	,	1950/2648,1942/2640	153581932	2571,7967	2196	4289	6485	SO:0001819	synonymous_variant	2316	exon36			GACCCGAGCAGTG	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5850T>C	X.37:g.153581932A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	96	96	1	NM_001110556	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																			A|0.755;0|0.006	.	strong		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			G	153581932	A	G	153581932	2	3	23	1	0	0	0	0	0	0	0	1	5933	291	11	3		3	FLNA	23	153581932	Silent	SNP	A	TCGA-GR-7353-01A-11D-2210-10	160020	153581932	1688628	4863	21319										
GDI1	2664	hgsc.bcm.edu	37	chrX	153667176	153667176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	ggccgaggccgagactggaaTgttgacctgattcccaaatt	12	10	0	3	rs4834	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:153667176T>C	ENST00000447750.2	+	3	554	c.219T>C	c.(217-219)aaT>aaC	p.N73N		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	73					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGACTGGAATGTTGACCTGA	0.572													C|||	1098	0.290861	0.5174	0.1686	3775	,	,		15146	0.0526		0.0845	False		,,,				2504	0.1626				p.N73N		Atlas-SNP	.											.	GDI1	36	.	0			c.T219C						PASS	.	C		2408,1427		641,745,381,246,190	179	184	182		219	-2.1	0.9	X	dbSNP_52	182	864,5864		40,555,229,1833,1643	no	coding-synonymous	GDI1	NM_001493.2		681,1300,610,2079,1833	CC,CT,C,TT,T		12.8419,37.2099,30.976		73/448	153667176	3272,7291	2203	4300	6503	SO:0001819	synonymous_variant	2664	exon3			CTGGAATGTTGAC	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.219T>C	X.37:g.153667176T>C		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	82	78	0.951219	NM_001493	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	CCDS35452.1																																																																																			0|0.001;C|0.314	0.314	strong		0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		C	153667176	T	C	153667176	2	2	23	1	0	0	0	0	0	0	0	1	6320	1461	51	2		2	GDI1	23	153667176	Silent	SNP	T	TCGA-GR-7353-01A-11D-2210-10	85244	153667176	1603384	4864	21320										
GAB3	139716	hgsc.bcm.edu	37	chrX	153925443	153925443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	tcctggtaagagatgcatgtTcccggatgatcgagaggttt	13	7	0	3			TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:153925443T>C	ENST00000369575.3	-	7	1419	c.1388A>G	c.(1387-1389)gAa>gGa	p.E463G	GAB3_ENST00000424127.2_Missense_Mutation_p.E464G|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	463					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGATGCATGTTCCCGGATGAT	0.537																																					p.E464G		Atlas-SNP	.											.	GAB3	73	.	0			c.A1391G						PASS	.						146	123	131					X																	153925443		2203	4300	6503	SO:0001583	missense	139716	exon7			GCATGTTCCCGGA	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1388A>G	X.37:g.153925443T>C	ENSP00000358588:p.Glu463Gly	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	74	4	0.0540541	NM_001081573	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675913	0.47886	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.30448	1.53;1.53;1.53	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.88031	2.925	0.39665	D	0.970665	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	T	0.69884	-0.5024	10	0.87932	D	0	-15.0336	12.0037	0.53246	0.0:0.0:0.0:1.0	.	464;464;463	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	G	463;464;464	ENSP00000358588:E463G;ENSP00000358581:E464G;ENSP00000399588:E464G	ENSP00000358581:E464G	E	-	2	0	GAB3	153578637	1.000000	0.71417	0.875000	0.34327	0.065000	0.16274	5.325000	0.65869	1.808000	0.52836	0.486000	0.48141	GAA	.	.	none		0.537	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		C	153925443	T	C	153925443	3	2	23	1	0	0	0	0	1	0	0	0	6150	1783	62	2	388	2	GAB3	23	153925443	Missense_Mutation	SNP	T	TCGA-GR-7353-01A-11D-2210-10	258267	153925443	1345117	4865	21321										
F8	2157	hgsc.bcm.edu	37	chrX	154158285	154158285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446670841160509	214	1	0.615569281953633	1.42103974462837	0.484804421459902	5.15500193496699e-12	1.05677539666823e-10	0	agtactggagcatatgccccGtcatatgaaccttctacatt	7	11	2	1	rs1800291	byFrequency	TCGA-GR-7353-01A-11D-2210-10	TCGA-GR-7353-10A-01D-2210-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8e2c3217-6e8f-4f19-b00f-d551799c527e	694ae665-129e-4f77-8739-c727be952b33	g.chrX:154158285G>C	ENST00000360256.4	-	14	3980	c.3780C>G	c.(3778-3780)gaC>gaG	p.D1260E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1260	B.		D -> E (in dbSNP:rs1800291). {ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:8644728, ECO:0000269|Ref.6}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATATGCCCCGTCATATGAAC	0.373													C|||	968	0.256424	0.5408	0.1282	3775	,	,		13663	0.0327		0.1004	False		,,,				2504	0.0307				p.D1260E		Atlas-SNP	.											.	F8	646	.	0			c.C3780G	GRCh37	CM960556	F8	M	rs1800291	PASS	.	C	GLU/ASP	2492,1343		702,712,376,218,195	93	80	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3780	0.8	0	X	dbSNP_89	84	1168,5559		77,709,305,1642,1566	yes	missense	F8	NM_000132.3	45	779,1421,681,1860,1761	CC,CG,C,GG,G		17.3629,35.0196,34.6525	benign	1260/2352	154158285	3660,6902	2203	4299	6502	SO:0001583	missense	2157	exon14			TGCCCCGTCATAT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3780C>G	X.37:g.154158285G>C	ENSP00000353393:p.Asp1260Glu	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	56	56	1	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	408	0.24593128390596744	167	0.5030120481927711	34	0.10303030303030303	21	0.03804347826086957	57	0.0800561797752809	c	0.001	-2.940936	0.00052	0.649804	0.173629	ENSG00000185010	ENST00000360256	D	0.98777	-5.13	5.0	0.78	0.18556	.	0.229900	0.30311	N	0.009907	T	0.00012	0.0000	N	0.00104	-2.125	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	9	0.02654	T	1	-0.5074	4.356	0.11178	0.0:0.3526:0.1713:0.476	rs1800291;rs12857528;rs52807479;rs1800291	1260	P00451	FA8_HUMAN	E	1260	ENSP00000353393:D1260E	ENSP00000353393:D1260E	D	-	3	2	F8	153811479	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.490000	0.06482	-0.282000	0.09128	-0.260000	0.10688	GAC	G|0.649;0|0.032	.	strong		0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			C	154158285	G	C	154158285	3	2	23	1	0	0	0	0	1	0	0	0	5350	1136	40	4	3355	4	F8	23	154158285	Missense_Mutation	SNP	G	TCGA-GR-7353-01A-11D-2210-10	232842	154158285	1112275	4866	21322										
UBR4	23352	hgsc.bcm.edu	37	chr1	19503103	19503103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gacctgatgagaaatgcttaGaccagttttcttctacttct	7	9	3	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:19503103G>C	ENST00000375254.3	-	20	2783	c.2756C>G	c.(2755-2757)tCt>tGt	p.S919C	UBR4_ENST00000375226.2_Missense_Mutation_p.S919C|UBR4_ENST00000375217.2_Missense_Mutation_p.S919C|UBR4_ENST00000375267.2_Missense_Mutation_p.S919C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	919					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAATGCTTAGACCAGTTTTC	0.468																																					p.S919C		Atlas-SNP	.											.	UBR4	415	.	0			c.C2756G						PASS	.						104	99	101					1																	19503103		2203	4300	6503	SO:0001583	missense	23352	exon20			TGCTTAGACCAGT	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2756C>G	1.37:g.19503103G>C	ENSP00000364403:p.Ser919Cys	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	99	30	0.30303	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379097	0.42207	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.97	4.02	0.46733	.	0.441462	0.24085	N	0.041697	T	0.23249	0.0562	N	0.08118	0	0.80722	D	1	B	0.28512	0.214	B	0.24541	0.054	T	0.11867	-1.0570	10	0.62326	D	0.03	.	12.3615	0.55205	0.0678:0.1211:0.8112:0.0	.	919	Q5T4S7	UBR4_HUMAN	C	919;919;919;919;135	ENSP00000364403:S919C;ENSP00000364416:S919C;ENSP00000364365:S919C;ENSP00000364374:S919C	ENSP00000364365:S919C	S	-	2	0	UBR4	19375690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.809000	0.55606	2.836000	0.97738	0.655000	0.94253	TCT	.	.	none		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19503103	G	C	19503103	3	2	24	1	0	0	0	0	1	0	0	0	16901	942	33	4	13143	4	UBR4	1	19503103	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		19503103	229747518	1	21323										
RAP1GAP	5909	hgsc.bcm.edu	37	chr1	21928279	21928279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctggggtcttctgaccagccGgagggctctccctgcggggc	16	14	3	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:21928279G>A	ENST00000374765.4	-	20	1750	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.P581L|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.P543L|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.P602L|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.P548L	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	517					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTGACCAGCCGGAGGGCTCTC	0.672																																					p.P581L		Atlas-SNP	.											.	RAP1GAP	119	.	0			c.C1742T						PASS	.						45	43	43					1																	21928279		2203	4300	6503	SO:0001583	missense	5909	exon20			CCAGCCGGAGGGC	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1550C>T	1.37:g.21928279G>A	ENSP00000363897:p.Pro517Leu	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	28	6	0.214286	NM_001145658	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.275461	0.80580	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89050	-2.43;-2.43;-2.46;-2.42	4.72	4.72	0.59763	.	0.411353	0.23279	N	0.049923	D	0.84875	0.5569	L	0.39633	1.23	0.52501	D	0.999951	D;P;B;P	0.54397	0.966;0.913;0.041;0.913	B;B;B;B	0.43018	0.405;0.121;0.006;0.121	D	0.84295	0.0502	10	0.32370	T	0.25	-7.3773	15.211	0.73225	0.0:0.0:1.0:0.0	.	543;517;547;517	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	L	581;548;543;517;547;602	ENSP00000290101:P581L;ENSP00000363893:P548L;ENSP00000441661:P543L;ENSP00000363897:P517L	ENSP00000290101:P581L	P	-	2	0	RAP1GAP	21800866	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.049000	0.76613	2.452000	0.82932	0.556000	0.70494	CCG	.	.	none		0.672	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		A	21928279	G	A	21928279	3	1	24	1	0	0	0	0	1	0	0	0	13037	1116	39	1	461	1	RAP1GAP	1	21928279	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	2425176	21928279	227322342	2	21324										
ARID1A	8289	hgsc.bcm.edu	37	chr1	27101097	27101097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccaatttccattccagtttgGccgagaccgtgtctctgcac	8	14	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:27101097G>C	ENST00000324856.7	+	18	4750	c.4379G>C	c.(4378-4380)gGc>gCc	p.G1460A	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1077A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCAGTTTGGCCGAGACCGT	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.G1460A		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.G4379C						PASS	.						69	73	72					1																	27101097		2203	4300	6503	SO:0001583	missense	8289	exon18			AGTTTGGCCGAGA	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.4379G>C	1.37:g.27101097G>C	ENSP00000320485:p.Gly1460Ala	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	124	38	0.306452	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.76|18.76	3.691728|3.691728	0.68271|0.68271	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	T;T|.	0.02606|.	4.39;4.23|.	5.54|5.54	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.952;0.982|.	D;P;P|.	0.87578|.	0.998;0.607;0.73|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.37606|.	T|.	0.19|.	-10.3623|-10.3623	14.2699|14.2699	0.66145|0.66145	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	1077;1460;1113|.	O14497-3;O14497;Q4LE49|.	.;ARI1A_HUMAN;.|.	A|C	1460;1077|356	ENSP00000320485:G1460A;ENSP00000363267:G1077A|.	ENSP00000320485:G1460A|.	G|W	+|+	2|3	0|0	ARID1A|ARID1A	26973684|26973684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.134000|6.134000	0.71689|0.71689	1.586000|1.586000	0.49944|0.49944	0.650000|0.650000	0.86243|0.86243	GGC|TGG	.	.	none		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		C	27101097	G	C	27101097	3	2	24	1	0	0	0	0	1	0	0	0	913	1203	42	4	4449	4	ARID1A	1	27101097	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5172818	27101097	222149524	3	21325										
NSUN4	387338	hgsc.bcm.edu	37	chr1	46806573	46806654	+	Splice_Site	DEL	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	-													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcgacggtcccgcggagacaTcgatataagaagaaatgggt					rs546723714|rs41293279		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:46806573_46806654delTCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	ENST00000474844.1	+	1	725_743	c.75_93delTCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	c.(73-93)catcgatataagaagaaatgg>ca	p.HRYKKKW25fs	NSUN4_ENST00000537428.1_5'Flank|NSUN4_ENST00000536062.1_5'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	25					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CGCGGAGACATCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGTTTCCCGGCCC	0.603											OREG0013456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.25_31del		Pindel	.											.	NSUN4	26	.	0			c.74_93del						PASS	.																																			SO:0001630	splice_region_variant	387338	exon1			.	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.93+1TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT>-	1.37:g.46806573_46806654delTCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT		Somatic	0	.	.	942	WXS	Illumina HiSeq	Phase_I	13	13	1	NM_199044	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Frame_Shift_Del	DEL	ENST00000474844.1	37	CCDS534.1																																																																																			.	.	none		0.603	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044	Frame_Shift_Del	-	46806654	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	-	46806573	8	5	24	1	0	1	0	1	0	0	1	0	10680	1432	50	0	77	0	NSUN4	1	46806573	Splice_Site	DEL	TCGATATAAGAAGAAATGGGTAAGGTCCGGCTGGGGGCGCAGGAGGGAAAAGTGAGGGTGGAAACTTCTCCAGTCTTTCCGT	TCGA-GR-A4D4-01A-11D-A31X-10	19705476	46806573	202444048	4	21326										
LRP8	7804	hgsc.bcm.edu	37	chr1	53755315	53755315	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttccaccgttcgtggatgcaGtggccgttgtcacaggtgaa	13	10	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:53755315G>C	ENST00000306052.6	-	3	392	c.291C>G	c.(289-291)caC>caG	p.H97Q	RP4-784A16.2_ENST00000421637.1_RNA|LRP8_ENST00000354412.3_Missense_Mutation_p.H97Q|RP4-784A16.3_ENST00000450469.1_RNA|LRP8_ENST00000371454.2_Missense_Mutation_p.H97Q|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Missense_Mutation_p.H97Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	97	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CGTGGATGCAGTGGCCGTTGT	0.612																																					p.H97Q		Atlas-SNP	.											.	LRP8	58	.	0			c.C291G						PASS	.						103	73	83					1																	53755315		2203	4300	6503	SO:0001583	missense	7804	exon3			GATGCAGTGGCCG	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.291C>G	1.37:g.53755315G>C	ENSP00000303634:p.His97Gln	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	40	9	0.225	NM_004631	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827526	0.50845	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.33	5.33	0.75918	.	.	.	.	.	D	0.90232	0.6946	N	0.16266	0.395	0.22280	N	0.999238	B;B;B;B	0.34372	0.028;0.451;0.259;0.049	B;B;B;B	0.43701	0.034;0.225;0.428;0.055	T	0.79593	-0.1739	9	0.09843	T	0.71	.	11.9452	0.52924	0.0826:0.0:0.9174:0.0	.	97;97;97;97	Q14114-2;Q14114-4;Q14114-3;Q14114	.;.;.;LRP8_HUMAN	Q	97	ENSP00000303634:H97Q;ENSP00000360509:H97Q;ENSP00000346391:H97Q;ENSP00000334522:H97Q	ENSP00000303634:H97Q	H	-	3	2	LRP8	53527903	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.925000	0.40074	2.778000	0.95560	0.655000	0.94253	CAC	.	.	none		0.612	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		C	53755315	G	C	53755315	3	2	24	1	0	0	0	0	1	0	0	0	8963	1020	36	4	2668	4	LRP8	1	53755315	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	6948742	53755315	195495306	5	21327										
ATG4C	84938	hgsc.bcm.edu	37	chr1	63300503	63300503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aatcttttgtagatgtcagcAtaaaggatttccctcttgag	8	7	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:63300503A>C	ENST00000317868.4	+	9	1276	c.1069A>C	c.(1069-1071)Ata>Cta	p.I357L	ATG4C_ENST00000371120.3_Missense_Mutation_p.I357L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	357					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AGATGTCAGCATAAAGGATTT	0.343																																					p.I357L		Atlas-SNP	.											.	ATG4C	96	.	0			c.A1069C						PASS	.						162	140	147					1																	63300503		2203	4300	6503	SO:0001583	missense	84938	exon9			GTCAGCATAAAGG	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1069A>C	1.37:g.63300503A>C	ENSP00000322159:p.Ile357Leu	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	135	28	0.207407	NM_178221	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672343	0.29693	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000414558	T;T	0.40476	1.03;1.03	5.24	2.91	0.33838	.	0.176121	0.64402	D	0.000009	T	0.21550	0.0519	L	0.61387	1.9	0.35343	D	0.786638	B	0.25667	0.131	B	0.32393	0.145	T	0.03750	-1.1007	10	0.27785	T	0.31	-13.9202	8.0732	0.30701	0.7766:0.0:0.2234:0.0	.	357	Q96DT6	ATG4C_HUMAN	L	357;357;357;101	ENSP00000322159:I357L;ENSP00000360161:I357L	ENSP00000322159:I357L	I	+	1	0	ATG4C	63073091	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.058000	0.64300	0.411000	0.25702	-0.334000	0.08254	ATA	.	.	none		0.343	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		C	63300503	A	C	63300503	3	2	24	1	0	0	0	0	1	0	0	0	1098	217	8	5	1099	5	ATG4C	1	63300503	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	9545188	63300503	185950118	6	21328										
FPGT	8790	hgsc.bcm.edu	37	chr1	74670196	74670196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gccatgtacattgatttcccCttaaatatgaatcctggaat	6	9	0	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:74670196C>T	ENST00000609362.1	+	4	502	c.465C>T	c.(463-465)ccC>ccT	p.P155P	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Silent_p.P168P|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000467578.2_3'UTR|TNNI3K_ENST00000370891.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	155					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTGATTTCCCCTTAAATATGA	0.353																																					p.P155P		Atlas-SNP	.											.	FPGT	77	.	0			c.C465T						PASS	.						110	114	112					1																	74670196		2203	4300	6503	SO:0001819	synonymous_variant	8790	exon4			TTTCCCCTTAAAT	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.465C>T	1.37:g.74670196C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	154	54	0.350649	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	CCDS663.1																																																																																			.	.	none		0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	74670196	C	T	74670196	2	4	24	1	0	0	0	0	0	0	0	1	6037	668	24	2		2	FPGT	1	74670196	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	11369693	74670196	174580425	7	21329										
NBPF14	25832	hgsc.bcm.edu	37	chr1	148010926	148010926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aacacgctgttgctccaataTgtaaaaggcacttctgtagg	9	9	1	0	rs369015353		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:148010926T>C	ENST00000369219.1	-	14	1712	c.1696A>G	c.(1696-1698)Ata>Gta	p.I566V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	566	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTCCAATATGTAAAAGGCA	0.463																																					p.I566V		Atlas-SNP	.											NBPF14,NS,lymphoid_neoplasm,+1,1	NBPF14	107	1	0			c.A1696G						scavenged	.						2	1	1					1																	148010926		381	1089	1470	SO:0001583	missense	25832	exon14			CCAATATGTAAAA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1696A>G	1.37:g.148010926T>C	ENSP00000358221:p.Ile566Val	Somatic	345	1	0.00289855		WXS	Illumina HiSeq	Phase_I	363	2	0.00550964	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.078	-1.188628	0.01607	.	.	ENSG00000122497	ENST00000369219	T	0.05996	3.36	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46693	-0.9173	7	0.38643	T	0.18	.	.	.	.	.	680;566	Q8IX74;Q5TI25	.;NBPFE_HUMAN	V	566	ENSP00000358221:I566V	ENSP00000358221:I566V	I	-	1	0	NBPF14	146477550	0.966000	0.33281	0.014000	0.15608	0.014000	0.08584	-2.021000	0.01440	-2.094000	0.00854	-2.075000	0.00382	ATA	.	.	none		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148010926	T	C	148010926	3	2	24	1	0	0	0	0	1	0	0	0	10194	1464	51	2	1105	2	NBPF14	1	148010926	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	73340730	148010926	101239695	8	21330										
C1orf51	148523	hgsc.bcm.edu	37	chr1	150256253	150256253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tttatacctcctctcacagaCctactcaatgggctgaagat	6	12	2	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:150256253C>T	ENST00000290363.5	+	2	854	c.405C>T	c.(403-405)gaC>gaT	p.D135D	C1orf51_ENST00000469255.1_Intron|C1orf51_ENST00000369095.1_Silent_p.D135D|C1orf51_ENST00000369094.1_Silent_p.D47D	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		135					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTCACAGACCTACTCAATG	0.428																																					p.D135D		Atlas-SNP	.											.	C1orf51	35	.	0			c.C405T						PASS	.						121	106	111					1																	150256253		2203	4300	6503	SO:0001819	synonymous_variant	148523	exon2			CACAGACCTACTC																												ENST00000290363.5:c.405C>T	1.37:g.150256253C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	121	36	0.297521	NM_144697	B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	CCDS949.1																																																																																			.	.	none		0.428	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			T	150256253	C	T	150256253	2	4	24	1	0	0	0	0	0	0	0	1	2043	506	18	2		2	C1orf51	1	150256253	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	2245327	150256253	98994368	9	21331										
AIM2	9447	hgsc.bcm.edu	37	chr1	159032486	159032487	+	Frame_Shift_Ins	INS	-	-	T													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gtcctttttacttctctatgINSttttttttttggccttaata					rs531843702|rs554845943	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:159032486_159032487insT	ENST00000368130.4	-	6	1315_1316	c.1027_1028insA	c.(1027-1029)acafs	p.T343fs		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	343					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ACTTCTCTATGTTTTTTTTTTG	0.401																																					p.T343fs		Pindel	.											AIM2,NS,carcinoma,-1,1	AIM2	70	1	0			c.1028_1029insA						PASS	.																																			SO:0001589	frameshift_variant	9447	exon6			.	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1028dupA	1.37:g.159032496_159032496dupT	ENSP00000357112:p.Thr343fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_004833	A8K7M7|Q5T3V9|Q96FG9	Frame_Shift_Ins	INS	ENST00000368130.4	37	CCDS1181.1																																																																																			.	.	none		0.401	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		T	159032487	-	T	159032486	7	5	24	1	0	1	1	0	0	0	0	0	432	1377	48	0	7	0	AIM2	1	159032486	Frame_Shift_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	8776233	159032486	90218135	10	21332										
CADM3	57863	hgsc.bcm.edu	37	chr1	159166170	159166170	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acagacacaccaactgcgatGattaggccagaccctcccca	7	16	0	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:159166170G>C	ENST00000368125.4	+	6	865	c.708G>C	c.(706-708)atG>atC	p.M236I	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.M270I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	236	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAACTGCGATGATTAGGCCAG	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M270I		Atlas-SNP	.											.	CADM3	118	.	0			c.G810C						PASS	.						206	142	164					1																	159166170		2203	4300	6503	SO:0001583	missense	57863	exon7			TGCGATGATTAGG	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.708G>C	1.37:g.159166170G>C	ENSP00000357107:p.Met236Ile	Somatic	109	0	0	1799	WXS	Illumina HiSeq	Phase_I	86	22	0.255814	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565133	0.27915	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.52295	2.56;2.56;0.67	4.78	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.755390	0.12781	N	0.439679	T	0.19846	0.0477	N	0.11927	0.2	0.30714	N	0.748991	B;B;B	0.22211	0.001;0.066;0.011	B;B;B	0.32393	0.004;0.145;0.014	T	0.20207	-1.0282	10	0.48119	T	0.1	.	13.1756	0.59624	0.0:0.0:1.0:0.0	.	190;236;270	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	I	270;236;190	ENSP00000357106:M270I;ENSP00000357107:M236I;ENSP00000387802:M190I	ENSP00000357106:M270I	M	+	3	0	CADM3	157432794	0.998000	0.40836	0.525000	0.27900	0.306000	0.27790	2.465000	0.45075	2.470000	0.83445	0.655000	0.94253	ATG	.	.	none		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		C	159166170	G	C	159166170	3	2	24	1	0	0	0	0	1	0	0	0	2568	1290	45	4	836	4	CADM3	1	159166170	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	133684	159166170	90084451	11	21333										
TPR	7175	hgsc.bcm.edu	37	chr1	186306183	186306183	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttgactttcaagtgattttgAttttgtttcagcttggttga	9	4	2	4			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:186306183A>T	ENST00000367478.4	-	32	4764	c.4468T>A	c.(4468-4470)Tca>Aca	p.S1490T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1490					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AGTGATTTTGATTTTGTTTCA	0.423			T	NTRK1	papillary thyroid																																p.S1490T		Atlas-SNP	.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR	441	.	0			c.T4468A						PASS	.						231	209	216					1																	186306183		1900	4128	6028	SO:0001583	missense	7175	exon32			ATTTTGATTTTGT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4468T>A	1.37:g.186306183A>T	ENSP00000356448:p.Ser1490Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	89	18	0.202247	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	7.171	0.587708	0.13812	.	.	ENSG00000047410	ENST00000367478	T	0.22336	1.96	5.91	-5.49	0.02584	Seryl-tRNA synthetase, class IIa, N-terminal (1);	0.471414	0.24638	N	0.036825	T	0.02571	0.0078	N	0.00162	-1.95	0.19945	N	0.999941	B	0.02656	0.0	B	0.01281	0.0	T	0.43294	-0.9400	10	0.07030	T	0.85	.	7.7025	0.28632	0.2781:0.1562:0.0:0.5657	.	1490	P12270	TPR_HUMAN	T	1490	ENSP00000356448:S1490T	ENSP00000356448:S1490T	S	-	1	0	TPR	184572806	1.000000	0.71417	0.927000	0.36925	0.836000	0.47400	0.896000	0.28377	-0.614000	0.05687	0.533000	0.62120	TCA	.	.	none		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186306183	A	T	186306183	3	4	24	1	0	0	0	0	1	0	0	0	16413	333	12	5	2703	5	TPR	1	186306183	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	27140013	186306183	62944438	12	21334										
ASPM	259266	hgsc.bcm.edu	37	chr1	197069752	197069752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tctatatagtaaaaactgttTtctggtttgccacgtcctaa	6	8	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:197069752T>G	ENST00000367409.4	-	18	8885	c.8629A>C	c.(8629-8631)Aaa>Caa	p.K2877Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2877	IQ 32. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAAACTGTTTTCTGGTTTGC	0.373																																					p.K2877Q		Atlas-SNP	.											.	ASPM	444	.	0			c.A8629C						PASS	.						52	55	54					1																	197069752		2203	4298	6501	SO:0001583	missense	259266	exon18			ACTGTTTTCTGGT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8629A>C	1.37:g.197069752T>G	ENSP00000356379:p.Lys2877Gln	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	110	30	0.272727	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769791	0.31320	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.35789	1.29	4.76	4.76	0.60689	.	0.827867	0.10966	N	0.614361	T	0.48714	0.1515	L	0.49571	1.57	0.28913	N	0.89257	D;D	0.60160	0.969;0.987	D;P	0.70227	0.968;0.9	T	0.38001	-0.9681	10	0.31617	T	0.26	.	5.7651	0.18221	0.1604:0.0847:0.0:0.7549	.	863;2877	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Q	2877;863	ENSP00000356379:K2877Q	ENSP00000356376:K863Q	K	-	1	0	ASPM	195336375	0.003000	0.15002	0.093000	0.20910	0.442000	0.32017	0.921000	0.28718	1.908000	0.55244	0.460000	0.39030	AAA	.	.	none		0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197069752	T	G	197069752	3	3	24	1	0	0	0	0	1	0	0	0	1056	1850	64	5	1848	5	ASPM	1	197069752	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	10763569	197069752	52180869	13	21335										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228564799	228564799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gctgggagaaggccagcgggCgggcgctggccgccaagatc	19	12	0	2	rs541725106		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:228564799C>T	ENST00000422127.1	+	101	23130	c.23086C>T	c.(23086-23088)Cgg>Tgg	p.R7696W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R5330W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R8653W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7696	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)				GGCCAGCGGGCGGGCGCTGGC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		15332	0.001		0.0	False		,,,				2504	0.0				p.R8653W		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C25957T						PASS	.						13	17	15					1																	228564799		2005	4163	6168	SO:0001583	missense	84033	exon112			AGCGGGCGGGCGC	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.23086C>T	1.37:g.228564799C>T	ENSP00000409493:p.Arg7696Trp	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	52	17	0.326923	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	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.50|16.50	3.139945|3.139945	0.56936|0.56936	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.66995	.|-0.24;-0.24	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);	.|0.259072	.|0.31660	.|N	.|0.007272	T|T	0.78610|0.78610	0.4310|0.4310	M|M	0.89214|0.89214	3.015|3.015	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.71674	.|0.998	.|P	.|0.54210	.|0.745	T|T	0.82948|0.82948	-0.0204|-0.0204	5|10	.|0.72032	.|D	.|0.01	.|.	11.3533|11.3533	0.49600|0.49600	0.3162:0.6838:0.0:0.0|0.3162:0.6838:0.0:0.0	.|.	.|7696	.|Q5VST9	.|OBSCN_HUMAN	V|W	2312|7696;5330	.|ENSP00000409493:R7696W;ENSP00000355668:R5330W	.|ENSP00000355668:R5330W	A|R	+|+	2|1	0|2	OBSCN|OBSCN	226631422|226631422	0.056000|0.056000	0.20664|0.20664	0.048000|0.048000	0.18961|0.18961	0.006000|0.006000	0.05464|0.05464	1.933000|1.933000	0.40153|0.40153	2.239000|2.239000	0.73571|0.73571	0.313000|0.313000	0.20887|0.20887	GCG|CGG	.	.	none		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228564799	C	T	228564799	3	4	24	1	0	0	0	0	1	0	0	0	10812	759	27	1	24694	1	OBSCN	1	228564799	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	31495047	228564799	20685822	14	21336										
TBCE	6905	hgsc.bcm.edu	37	chr1	235590506	235590506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gttgtcatcatgggatgaagTgatacacattgctgatcagc	11	7	3	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:235590506T>C	ENST00000366601.3	+	6	688	c.512T>C	c.(511-513)gTg>gCg	p.V171A	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Missense_Mutation_p.V171A|RP11-293G6__A.2_ENST00000430613.2_RNA|TBCE_ENST00000406207.1_Missense_Mutation_p.V171A			Q15813	TBCE_HUMAN	tubulin folding cofactor E	171					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TGGGATGAAGTGATACACATT	0.363																																					p.V171A		Atlas-SNP	.											.	TBCE	40	.	0			c.T512C						PASS	.						140	133	135					1																	235590506		2203	4300	6503	SO:0001583	missense	6905	exon6			ATGAAGTGATACA	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.512T>C	1.37:g.235590506T>C	ENSP00000355560:p.Val171Ala	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	80	28	0.35	NM_003193	A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304959	0.60305	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.39229	1.09;1.09;1.09	5.43	5.43	0.79202	.	0.061993	0.64402	D	0.000005	T	0.65450	0.2692	M	0.83483	2.645	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.97;0.991	D;P;P	0.65773	0.938;0.539;0.905	T	0.71148	-0.4677	10	0.72032	D	0.01	-16.6054	14.0172	0.64531	0.0:0.0:0.0:1.0	.	171;171;171	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	A	171	ENSP00000355560:V171A;ENSP00000384571:V171A;ENSP00000439170:V171A	ENSP00000355560:V171A	V	+	2	0	TBCE	233657129	0.999000	0.42202	0.949000	0.38748	0.473000	0.32948	4.558000	0.60789	2.189000	0.69895	0.443000	0.29094	GTG	.	.	none		0.363	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		C	235590506	T	C	235590506	3	2	24	1	0	0	0	0	1	0	0	0	15631	1696	59	2	530	2	TBCE	1	235590506	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	7025707	235590506	13660115	15	21337										
ZP4	57829	hgsc.bcm.edu	37	chr1	238049158	238049158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gattgggagagagttgctacTtactgagtagctgcagctga	14	6	0	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr1:238049158T>G	ENST00000366570.4	-	7	1026	c.868A>C	c.(868-870)Agt>Cgt	p.S290R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	290	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGTTGCTACTTACTGAGTAG	0.483																																					p.S290R	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											.	ZP4	161	.	0			c.A868C						PASS	.						149	144	146					1																	238049158		2203	4300	6503	SO:0001583	missense	57829	exon7			TGCTACTTACTGA	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.868A>C	1.37:g.238049158T>G	ENSP00000355529:p.Ser290Arg	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	70	19	0.271429	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248183	0.39697	.	.	ENSG00000116996	ENST00000366570	D	0.82619	-1.63	4.32	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.550821	0.19053	N	0.123987	T	0.71134	0.3304	L	0.31804	0.96	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.57341	-0.7828	10	0.34782	T	0.22	-1.9444	8.4328	0.32769	0.0:0.0:0.412:0.588	.	290	Q12836	ZP4_HUMAN	R	290	ENSP00000355529:S290R	ENSP00000355529:S290R	S	-	1	0	ZP4	236115781	0.002000	0.14202	0.000000	0.03702	0.817000	0.46193	1.245000	0.32790	0.194000	0.20326	0.528000	0.53228	AGT	.	.	none		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			G	238049158	T	G	238049158	3	3	24	1	0	0	0	0	1	0	0	0	18215	1609	56	5	778	5	ZP4	1	238049158	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	2458652	238049158	11201463	16	21338										
LPIN1	23175	hgsc.bcm.edu	37	chr2	11955228	11955228	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tttcaggaatggatataaatTtctctactgttctgcccgtg	8	8	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:11955228T>A	ENST00000256720.2	+	17	2249	c.2156T>A	c.(2155-2157)tTt>tAt	p.F719Y	LPIN1_ENST00000404113.2_Missense_Mutation_p.F220Y|LPIN1_ENST00000396099.1_Missense_Mutation_p.F761Y|LPIN1_ENST00000396097.1_Missense_Mutation_p.F449Y|LPIN1_ENST00000425416.2_Missense_Mutation_p.F725Y|LPIN1_ENST00000449576.2_Missense_Mutation_p.F804Y	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	719	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGATATAAATTTCTCTACTGT	0.502																																					p.F804Y		Atlas-SNP	.											.	LPIN1	99	.	0			c.T2411A						PASS	.						53	52	52					2																	11955228		2203	4300	6503	SO:0001583	missense	23175	exon19			ATAAATTTCTCTA	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2156T>A	2.37:g.11955228T>A	ENSP00000256720:p.Phe719Tyr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	119	23	0.193277	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551618	0.86127	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.986	D	0.91033	0.4865	10	0.87932	D	0	-18.1031	14.1851	0.65601	0.0:0.0:0.0:1.0	.	220;804;719	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	Y	804;761;725;719;449;220	ENSP00000397908:F804Y;ENSP00000379406:F761Y;ENSP00000401522:F725Y;ENSP00000256720:F719Y;ENSP00000379404:F449Y;ENSP00000386120:F220Y	ENSP00000256720:F719Y	F	+	2	0	LPIN1	11872679	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	7.544000	0.82117	1.752000	0.51891	0.533000	0.62120	TTT	.	.	none		0.502	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11955228	T	A	11955228	3	1	24	1	0	0	0	0	1	0	0	0	8918	1841	64	5	2218	5	LPIN1	2	11955228	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10		11955228	231244145	17	21339										
FEZ2	9637	hgsc.bcm.edu	37	chr2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tctcctccaagctgcaggccGgggccgggaaaccgtcggcg	15	15	1	0	rs1544655	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:36825137G>A	ENST00000405912.3	-	1	148	c.149C>T	c.(148-150)cCg>cTg	p.P50L	FEZ2_ENST00000379245.4_Missense_Mutation_p.P50L	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	50			P -> L (in dbSNP:rs1544655). {ECO:0000269|PubMed:10931946}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTGCAGGCCGGGGCCGGGAA	0.761													A|||	4355	0.869609	0.9039	0.8372	5008	,	,		3879	0.9881		0.7435	False		,,,				2504	0.8538				p.P50L		Atlas-SNP	.											.	FEZ2	13	.	0			c.C149T						PASS	.						2	3	3					2																	36825137		1191	2916	4107	SO:0001583	missense	9637	exon1			CAGGCCGGGGCCG	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.149C>T	2.37:g.36825137G>A	ENSP00000385112:p.Pro50Leu	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	15	6	0.4	NM_001042548	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1789	0.8191391941391941	416	0.8455284552845529	284	0.7845303867403315	557	0.9737762237762237	532	0.7018469656992085	A	9.679	1.148856	0.21288	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.16897	2.31;2.31	3.93	3.93	0.45458	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00121	-2.07	0.09310	P	0.9999999999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32025	-0.9922	9	0.02654	T	1	-21.1042	7.5473	0.27775	0.8952:0.0:0.1048:0.0	rs1544655	50;50;50	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	L	50	ENSP00000368547:P50L;ENSP00000385112:P50L	ENSP00000368547:P50L	P	-	2	0	FEZ2	36678641	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	0.606000	0.24194	0.590000	0.29694	-0.775000	0.03384	CCG	G|0.181;A|0.819	0.819	strong		0.761	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			A	36825137	G	A	36825137	3	1	24	1	0	0	0	0	1	0	0	0	5824	1116	39	1	1029	1	FEZ2	2	36825137	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	24869909	36825137	206374236	18	21340										
FEZ2	9637	hgsc.bcm.edu	37	chr2	36825170	36825170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgtcggcgcccccacccgccTcggcccccgcctccgcccca	9	27	0	0	rs2287104	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:36825170T>C	ENST00000405912.3	-	1	115	c.116A>G	c.(115-117)gAg>gGg	p.E39G	FEZ2_ENST00000379245.4_Missense_Mutation_p.E39G	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	39					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				CCCACCCGCCTCGGCCCCCGC	0.726													C|||	4300	0.858626	0.8631	0.8357	5008	,	,		2819	0.9881		0.7435	False		,,,				2504	0.8538				p.E39G		Atlas-SNP	.											.	FEZ2	13	.	0			c.A116G						PASS	.						1	1	1					2																	36825170		417	1430	1847	SO:0001583	missense	9637	exon1			CCCGCCTCGGCCC	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.116A>G	2.37:g.36825170T>C	ENSP00000385112:p.Glu39Gly	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	15	7	0.466667	NM_001042548	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1724	0.7893772893772893	386	0.7845528455284553	280	0.7734806629834254	547	0.9562937062937062	511	0.6741424802110818	C	0.003	-2.396057	0.00198	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.24151	1.87;1.87	0.149	0.149	0.14863	.	0.623505	0.11728	N	0.535217	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.000000000032756E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16958	-1.0385	8	0.18276	T	0.48	-14.8961	.	.	.	rs2287104;rs17846529;rs17859602	39;39;39	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	G	39	ENSP00000368547:E39G;ENSP00000385112:E39G	ENSP00000368547:E39G	E	-	2	0	FEZ2	36678674	0.001000	0.12720	0.027000	0.17364	0.039000	0.13416	-0.265000	0.08644	-1.066000	0.03164	-1.063000	0.02288	GAG	T|0.211;C|0.789	0.789	strong		0.726	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			C	36825170	T	C	36825170	3	2	24	1	0	0	0	0	1	0	0	0	5824	1551	54	3	1062	3	FEZ2	2	36825170	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	33	36825170	206374203	19	21341										
ZFP36L2	678	hgsc.bcm.edu	37	chr2	43452183	43452183	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gaagctgaggctgtggtgcaActtgggccgcggctcccgcg	17	12	0	1	rs7933	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:43452183A>G	ENST00000282388.3	-	2	1053	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	254					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGGTGCAACTTGGGCCGC	0.761													G|||	2508	0.500799	0.8222	0.3804	5008	,	,		10273	0.2421		0.3718	False		,,,				2504	0.5511				p.L254L		Atlas-SNP	.											ZFP36L2,NS,carcinoma,0,2	ZFP36L2	56	2	0			c.T760C						scavenged	.	G		2974,1312		1071,832,240	10	19	16		760	4.4	1	2	dbSNP_52	16	3110,5334		626,1858,1738	no	coding-synonymous	ZFP36L2	NM_006887.4		1697,2690,1978	GG,GA,AA		36.8309,30.6113,47.7926		254/495	43452183	6084,6646	2143	4222	6365	SO:0001819	synonymous_variant	678	exon2			GGTGCAACTTGGG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.760T>C	2.37:g.43452183A>G		Somatic	1	1	1		WXS	Illumina HiSeq	Phase_I	6	4	0.666667	NM_006887	Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	CCDS1811.1																																																																																			A|0.568;G|0.432	0.432	strong		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		G	43452183	A	G	43452183	2	3	24	1	0	0	0	0	0	0	0	1	17644	40	2	2		2	ZFP36L2	2	43452183	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	6627013	43452183	199747190	20	21342										
CD8B	926	hgsc.bcm.edu	37	chr2	87088964	87088964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acctgtcagctgcgcggccaAgaggagccacagccgcggcc	14	16	1	1	rs62146888	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000393759.2_Silent_p.L9L|CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000431506.2_Silent_p.L9L|CD8B_ENST00000331469.2_Silent_p.L9L|CD8B_ENST00000393761.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		Atlas-SNP	.											.	CD8B	37	.	0			c.T25C						PASS	.						1	1	1					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	10	4	0.4	NM_004931	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524	0.524	strong		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87088964	A	G	87088964	2	3	24	1	0	0	0	0	0	0	0	1	3045	69	3	3		3	CD8B	2	87088964	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	43636781	87088964	156110409	21	21343										
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97790211	97790211	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttttagatcagccctcatacAtgctgttactcttggagaaa	7	9	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:97790211A>T	ENST00000461153.2	+	5	852	c.608A>T	c.(607-609)cAt>cTt	p.H203L	ANKRD36_ENST00000420699.2_Missense_Mutation_p.H203L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	203								p.H203L(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCCCTCATACATGCTGTTACT	0.323																																					p.H203L		Atlas-SNP	.											ANKRD36_ENST00000420699,extremity,malignant_melanoma,0,2	ANKRD36	170	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.A608T						scavenged	.						79	60	65					2																	97790211		692	1589	2281	SO:0001583	missense	375248	exon5			TCATACATGCTGT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.608A>T	2.37:g.97790211A>T	ENSP00000419530:p.His203Leu	Somatic	296	13	0.0439189		WXS	Illumina HiSeq	Phase_I	295	9	0.0305085	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.781271	0.00634	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000455519	T;T	0.60920	0.15;0.15	0.946	-0.341	0.12639	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.16642	0.0400	N	0.00855	-1.145	0.47511	D	0.999447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37384	-0.9708	9	0.02654	T	1	.	3.0347	0.06118	0.3942:0.0:0.0:0.6058	.	203;203	A6QL64;F2Z332	AN36A_HUMAN;.	L	203	ENSP00000419530:H203L;ENSP00000391950:H203L	ENSP00000377149:H203L	H	+	2	0	ANKRD36	97153938	0.990000	0.36364	0.731000	0.30826	0.427000	0.31564	0.125000	0.15749	-0.131000	0.11578	-1.495000	0.00966	CAT	.	.	none		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			T	97790211	A	T	97790211	3	4	24	1	0	0	0	0	1	0	0	0	665	217	8	5	626	5	ANKRD36	2	97790211	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	10701247	97790211	145409162	22	21344										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114257354	114257354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gatcccccgcgagccgggccAcccaggcaagggcacctact	12	18	0	0	rs202243377	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:114257354A>G	ENST00000306507.5	+	1	694	c.521A>G	c.(520-522)cAc>cGc	p.H174R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGCCGGGCCACCCAGGCAAG	0.632													.|||	294	0.0587061	0.0091	0.0908	5008	,	,		10222	0.1776		0.0139	False		,,,				2504	0.0266				p.H174R		Atlas-SNP	.											FOXD4L1,NS,carcinoma,0,1	FOXD4L1	48	1	0			c.A521G						scavenged	.						75	97	89					2																	114257354		2141	4139	6280	SO:0001583	missense	200350	exon1			CGGGCCACCCAGG	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.521A>G	2.37:g.114257354A>G	ENSP00000302756:p.His174Arg	Somatic	66	6	0.0909091		WXS	Illumina HiSeq	Phase_I	77	13	0.168831	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536728	0.27475	.	.	ENSG00000184492	ENST00000306507	D	0.95069	-3.6	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.35739	U	0.003002	T	0.78426	0.4281	N	0.00471	-1.455	0.41757	D	0.989692	B	0.14012	0.009	B	0.15052	0.012	T	0.71768	-0.4493	10	0.24483	T	0.36	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	174	Q9NU39	FX4L1_HUMAN	R	174	ENSP00000302756:H174R	ENSP00000302756:H174R	H	+	2	0	FOXD4L1	113973824	0.878000	0.30173	1.000000	0.80357	0.878000	0.50629	5.717000	0.68446	1.190000	0.43042	0.155000	0.16302	CAC	A|0.999;G|0.001	0.001	weak		0.632	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		G	114257354	A	G	114257354	3	3	24	1	0	0	0	0	1	0	0	0	6000	159	6	2	523	2	FOXD4L1	2	114257354	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	16467143	114257354	128942019	23	21345										
POTEF	728378	hgsc.bcm.edu	37	chr2	130872871	130872871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agttttactacttctgaattCccattggcagaggccagatg	9	9	1	3	rs199770435		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000357462.5_Silent_p.G184G|POTEF_ENST00000360967.5_Silent_p.G184G|POTEF_ENST00000361163.4_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTGAATTCCCATTGGCAG	0.423																																					p.G184G		Atlas-SNP	.											POTEF,NS,carcinoma,0,5	POTEF	140	5	2	Substitution - coding silent(2)	prostate(2)	c.G552A						scavenged	.						45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378	exon4			TGAATTCCCATTG	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.552G>A	2.37:g.130872871C>T		Somatic	922	12	0.0130152		WXS	Illumina HiSeq	Phase_I	871	14	0.0160735	NM_001099771	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																			C|0.998;T|0.002	0.002	weak		0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	24	1	0	0	0	0	0	0	0	1	12265	842	30	2		2	POTEF	2	130872871	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	16615517	130872871	112326502	24	21346										
POTEF	728378	hgsc.bcm.edu	37	chr2	130877761	130877761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cttgctcttgctgctcccccTgcagcaggggaagcagtggc	13	14	1	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:130877761T>C	ENST00000409914.2	-	3	727	c.328A>G	c.(328-330)Agg>Ggg	p.R110G	POTEF_ENST00000357462.5_Missense_Mutation_p.R110G|POTEF_ENST00000360967.5_Missense_Mutation_p.R110G|POTEF_ENST00000361163.4_Missense_Mutation_p.R110G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	110					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGCTCCCCCTGCAGCAGGGG	0.587																																					p.R110G		Atlas-SNP	.											POTEF,NS,carcinoma,+2,2	POTEF	140	2	0			c.A328G						scavenged	.						44	68	60					2																	130877761		2193	4285	6478	SO:0001583	missense	728378	exon3			TCCCCCTGCAGCA	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.328A>G	2.37:g.130877761T>C	ENSP00000386786:p.Arg110Gly	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	147	2	0.0136054	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	3.298	-0.143585	0.06627	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77489	-1.1;-1.1;1.73;1.68	.	.	.	.	.	.	.	.	T	0.64327	0.2588	L	0.38838	1.175	0.09310	N	1	P	0.34662	0.462	B	0.32762	0.152	T	0.55964	-0.8057	7	0.87932	D	0	.	.	.	.	.	110	A5A3E0	POTEF_HUMAN	G	110	ENSP00000350052:R110G;ENSP00000386786:R110G;ENSP00000354232:R110G;ENSP00000355012:R110G	ENSP00000350052:R110G	R	-	1	2	POTEF	130594231	0.000000	0.05858	0.028000	0.17463	0.055000	0.15305	-1.685000	0.01930	0.077000	0.16863	0.076000	0.15429	AGG	.	.	none		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130877761	T	C	130877761	3	2	24	1	0	0	0	0	1	0	0	0	12265	1579	55	3	2959	3	POTEF	2	130877761	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	4890	130877761	112321612	25	21347										
POTEE	445582	hgsc.bcm.edu	37	chr2	132021860	132021860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aagagctacgagctgcccgaTggccaggtcatcaccatcgg	12	13	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:132021860T>C	ENST00000356920.5	+	15	2926	c.2832T>C	c.(2830-2832)gaT>gaC	p.D944D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	944	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGCTGCCCGATGGCCAGGTCA	0.597																																					p.D944D		Atlas-SNP	.											ENSG00000188219,NS,carcinoma,+1,1	.	.	1	0			c.T2832C						scavenged	.						50	59	56					2																	132021860		2063	4067	6130	SO:0001819	synonymous_variant	445582	exon15			GCCCGATGGCCAG	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2832T>C	2.37:g.132021860T>C		Somatic	129	6	0.0465116		WXS	Illumina HiSeq	Phase_I	160	8	0.05	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																			.	.	none		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	132021860	T	C	132021860	2	2	24	1	0	0	0	0	0	0	0	1	12264	1461	51	2		2	POTEE	2	132021860	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	1144099	132021860	111177513	26	21348										
ANKRD44	91526	hgsc.bcm.edu	37	chr2	197878306	197878306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	atgcgccctgattgataagcGcttccacacattctgtgtgt	9	11	1	2	rs145800695	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:197878306G>A	ENST00000328737.2	-	18	1854	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A593V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A610V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A593V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	618										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTGATAAGCGCTTCCACACA	0.507													G|||	8	0.00159744	0.0061	0.0	5008	,	,		20126	0.0		0.0	False		,,,				2504	0.0				p.A618V		Atlas-SNP	.											ANKRD44_ENST00000424317,NS,carcinoma,+1,2	ANKRD44	281	2	0			c.C1853T						scavenged	.	G	VAL/ALA	35,4371	40.8+/-73.8	0,35,2168	220	208	212		1853	4.4	1	2	dbSNP_134	212	0,8600		0,0,4300	yes	missense	ANKRD44	NM_001195144.1	64	0,35,6468	AA,AG,GG		0.0,0.7944,0.2691	benign	618/994	197878306	35,12971	2203	4300	6503	SO:0001583	missense	91526	exon18			ATAAGCGCTTCCA	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1778C>T	2.37:g.197878306G>A	ENSP00000331516:p.Ala593Val	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	130	32	0.246154	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	3.291	-0.144875	0.06627	0.007944	0.0	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.43	4.43	0.53597	.	0.060668	0.64402	D	0.000003	T	0.53786	0.1818	N	0.21240	0.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52631	-0.8550	10	0.12103	T	0.63	.	10.8392	0.46704	0.0862:0.0:0.9138:0.0	.	636	Q8N8A2-2	.	V	433;610;593;593;593;293	ENSP00000403415:A433V;ENSP00000282272:A610V;ENSP00000331516:A593V;ENSP00000402420:A593V;ENSP00000338794:A593V;ENSP00000416319:A293V	ENSP00000282272:A610V	A	-	2	0	ANKRD44	197586551	0.996000	0.38824	0.993000	0.49108	0.714000	0.41099	2.528000	0.45624	2.294000	0.77228	0.655000	0.94253	GCG	G|0.997;A|0.003	0.003	strong		0.507	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		A	197878306	G	A	197878306	3	1	24	1	0	0	0	0	1	0	0	0	672	1087	38	1	1017	1	ANKRD44	2	197878306	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	65856446	197878306	45321067	27	21349										
STRADB	55437	hgsc.bcm.edu	37	chr2	202344861	202344861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttggactgagccagaatgtgAttttcctgatgaaaaagact	10	6	0	6	rs139900078		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:202344861A>G	ENST00000194530.3	+	12	1585	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	407					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D407G(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAGAATGTGATTTTCCTGAT	0.403																																					p.D407G		Atlas-SNP	.											STRADB,hand,malignant_melanoma,0,1	STRADB	33	1	1	Substitution - Missense(1)	skin(1)	c.A1220G						scavenged	.						140	138	139					2																	202344861		2203	4300	6503	SO:0001583	missense	55437	exon12			AATGTGATTTTCC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1220A>G	2.37:g.202344861A>G	ENSP00000194530:p.Asp407Gly	Somatic	216	2	0.00925926		WXS	Illumina HiSeq	Phase_I	203	3	0.0147783	NM_018571	Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	CCDS2348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.737|4.737	0.137134|0.137134	0.09032|0.09032	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.61510|.	0.1|.	5.55|5.55	-1.4|-1.4	0.08968|0.08968	.|.	1.281530|.	0.04747|.	N|.	0.423931|.	T|.	0.17959|.	0.0431|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.24512|.	-1.0158|.	10|.	0.21014|.	T|.	0.42|.	.|.	1.8647|1.8647	0.03195|0.03195	0.3817:0.2818:0.075:0.2616|0.3817:0.2818:0.075:0.2616	.|.	407|.	Q9C0K7|.	STRAB_HUMAN|.	G|W	407;407;269|77	ENSP00000194530:D407G|.	ENSP00000194530:D407G|.	D|X	+|+	2|3	0|0	STRADB|STRADB	202053106|202053106	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.245000|0.245000	0.25701|0.25701	-0.132000|-0.132000	0.10467|0.10467	0.023000|0.023000	0.15187|0.15187	0.533000|0.533000	0.62120|0.62120	GAT|TGA	.	.	weak		0.403	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		G	202344861	A	G	202344861	3	3	24	1	0	0	0	0	1	0	0	0	15324	333	12	2	1262	2	STRADB	2	202344861	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	4466555	202344861	40854512	28	21350										
FARSB	10056	hgsc.bcm.edu	37	chr2	223504317	223504317	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acctgcaaatattctgatgtAatttctcctgaagttcaatg	6	8	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:223504317A>T	ENST00000281828.6	-	5	700	c.437T>A	c.(436-438)tTa>tAa	p.L146*	FARSB_ENST00000536361.1_Nonsense_Mutation_p.L47*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	146					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATTCTGATGTAATTTCTCCTG	0.423																																					p.L146X		Atlas-SNP	.											.	FARSB	49	.	0			c.T437A						PASS	.						126	123	124					2																	223504317		2203	4300	6503	SO:0001587	stop_gained	10056	exon5			TGATGTAATTTCT	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.437T>A	2.37:g.223504317A>T	ENSP00000281828:p.Leu146*	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	101	20	0.19802	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Nonsense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	A	40	8.314864	0.98757	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0598	16.2824	0.82697	1.0:0.0:0.0:0.0	.	.	.	.	X	146;47	.	ENSP00000281828:L146X	L	-	2	0	FARSB	223212561	1.000000	0.71417	0.160000	0.22671	0.957000	0.61999	8.826000	0.92034	2.250000	0.74265	0.533000	0.62120	TTA	.	.	none		0.423	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		T	223504317	A	T	223504317	4	4	24	1	0	0	0	0	0	1	0	0	5680	372	13	5	1384	5	FARSB	2	223504317	Nonsense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	21159456	223504317	19695056	29	21351										
COL4A3	1285	hgsc.bcm.edu	37	chr2	228172583	228172583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acagtgccactctacagtggGttttcttttctttttgtaca	7	9	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:228172583G>A	ENST00000396578.3	+	48	4572	c.4410G>A	c.(4408-4410)ggG>ggA	p.G1470G	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1470	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCTACAGTGGGTTTTCTTTTC	0.498																																					p.G1470G		Atlas-SNP	.											.	COL4A3	293	.	0			c.G4410A						PASS	.						91	87	88					2																	228172583		1900	4112	6012	SO:0001819	synonymous_variant	1285	exon48			CAGTGGGTTTTCT		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4410G>A	2.37:g.228172583G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	147	38	0.258503	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	CCDS42829.1																																																																																			.	.	none		0.498	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		A	228172583	G	A	228172583	2	1	24	1	0	0	0	0	0	0	0	1	3691	1248	44	2		2	COL4A3	2	228172583	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	4668266	228172583	15026790	30	21352										
SPHKAP	80309	hgsc.bcm.edu	37	chr2	228881444	228881444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gggctgtttacattcggtaaCagagtctttcctcgggcaat	11	9	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:228881444C>T	ENST00000392056.3	-	7	4172	c.4126G>A	c.(4126-4128)Gtt>Att	p.V1376I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1376I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1376						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCGGTAACAGAGTCTTTC	0.473																																					p.V1376I		Atlas-SNP	.											.	SPHKAP	750	.	0			c.G4126A						PASS	.						75	77	76					2																	228881444		2203	4300	6503	SO:0001583	missense	80309	exon7			CGGTAACAGAGTC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4126G>A	2.37:g.228881444C>T	ENSP00000375909:p.Val1376Ile	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	80	19	0.2375	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968624	0.18659	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13089	2.62;2.62	5.14	0.496	0.16896	.	1.516350	0.03499	N	0.217772	T	0.05135	0.0137	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.15141	0.002;0.002;0.012	B;B;B	0.15484	0.001;0.004;0.013	T	0.31998	-0.9923	10	0.18276	T	0.48	.	2.5383	0.04719	0.0973:0.3926:0.2658:0.2443	.	407;1376;1376	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1376	ENSP00000375909:V1376I;ENSP00000339886:V1376I	ENSP00000339886:V1376I	V	-	1	0	SPHKAP	228589688	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.174000	0.09839	-0.056000	0.13221	0.655000	0.94253	GTT	.	.	none		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228881444	C	T	228881444	3	4	24	1	0	0	0	0	1	0	0	0	15047	478	17	2	1000	2	SPHKAP	2	228881444	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	708861	228881444	14317929	31	21353										
RBM44	375316	hgsc.bcm.edu	37	chr2	238726640	238726644	+	Frame_Shift_Del	DEL	ACATT	ACATT	-													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgcaccttgaaaatcctagcAcattaccacaggataaagct							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	ACATT	ACATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:238726640_238726644delACATT	ENST00000409864.1	+	3	1335_1339	c.1081_1085delACATT	c.(1081-1086)acattafs	p.TL361fs	RBM44_ENST00000316997.4_Frame_Shift_Del_p.TL361fs|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	360						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAATCCTAGCACATTACCACAGGAT	0.332																																					p.360_362del		Atlas-Indel	.											.	RBM44	167	.	0			c.1080_1084del						PASS	.																																			SO:0001589	frameshift_variant	375316	exon3			.	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1081_1085delACATT	2.37:g.238726640_238726644delACATT	ENSP00000386727:p.Thr361fs	Somatic	410	0	0		WXS	Illumina HiSeq	Phase_I	345	50	0.144928	NM_001080504	A0AUW3	Frame_Shift_Del	DEL	ENST00000409864.1	37	CCDS46554.1																																																																																			.	.	none		0.332	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		-	238726644	ACATT	-	238726640	7	5	24	1	0	1	0	1	0	0	0	0	13138	159	6	0	1087	0	RBM44	2	238726640	Frame_Shift_Del	DEL	ACATT	TCGA-GR-A4D4-01A-11D-A31X-10	9845196	238726640	4472733	32	21354	426	2								
RBM44	375316	hgsc.bcm.edu	37	chr2	238726642	238726647	+	In_Frame_Del	DEL	ATTACC	ATTACC	-													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	caccttgaaaatcctagcacAttaccacaggataaagcttt					rs201162171		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	ATTACC	ATTACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr2:238726642_238726647delATTACC	ENST00000409864.1	+	3	1337_1342	c.1083_1088delATTACC	c.(1081-1089)acattacca>aca	p.LP362del	RBM44_ENST00000316997.4_In_Frame_Del_p.LP362del|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	361						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATCCTAGCACATTACCACAGGATAAA	0.33																																					p.361_363del		Pindel	.											.	RBM44	167	.	0			c.1082_1087del						PASS	.																																			SO:0001651	inframe_deletion	375316	exon3			.	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1083_1088delATTACC	2.37:g.238726642_238726647delATTACC	ENSP00000386727:p.Leu362_Pro363del	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	40	40	1	NM_001080504	A0AUW3	In_Frame_Del	DEL	ENST00000409864.1	37	CCDS46554.1																																																																																			.	.	none		0.33	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		-	238726647	ATTACC	-	238726642	7	5	24	1	0	1	0	1	0	0	0	0	13138	204	8	0	1089	0	RBM44	2	238726642	In_Frame_Del	DEL	ATTACC	TCGA-GR-A4D4-01A-11D-A31X-10	2	238726642	4472731	33	21355	426	2								
MST1	327	hgsc.bcm.edu	37	chr3	49723881	49723881	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tcccgcggaagcagctgacaGttgtggcctcttggcggggc	16	12	1	1	rs6777426	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:49723881G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.T294S|MST1_ENST00000383728.3_Missense_Mutation_p.T219S|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.T280S(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTGACAGTTGTGGCCTC	0.652																																					p.T294S		Atlas-SNP	.											MST1,extremity,malignant_melanoma,0,1	MST1	84	1	1	Substitution - Missense(1)	skin(1)	c.C881G						scavenged	.						33	36	35					3																	49723881		2201	4298	6499	SO:0001628	intergenic_variant	4485	exon8			CTGACAGTTGTGG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723881G>C		Somatic	167	10	0.0598802		WXS	Illumina HiSeq	Phase_I	190	12	0.0631579	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417297	0.83449	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	D;T	0.87887	-2.31;-0.48	5.67	4.75	0.60458	Kringle (1);	0.339887	0.21177	N	0.078900	T	0.81545	0.4845	L	0.33137	0.985	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.77723	-0.2481	10	0.54805	T	0.06	.	14.5452	0.68024	0.0:0.0:0.8533:0.1467	rs6777426	280;294	P26927;G3XAK1	HGFL_HUMAN;.	S	294;219	ENSP00000414287:T294S;ENSP00000373234:T219S	ENSP00000373234:T219S	T	-	2	0	MST1	49698885	1.000000	0.71417	0.025000	0.17156	0.854000	0.48673	6.531000	0.73820	2.673000	0.90976	0.655000	0.94253	ACT	G|0.986;C|0.014	0.014	strong		0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49723881	G	C	49723881	1	2	24	0	1	0	0	0	0	0	0	0	9890	1029	36	4		4	MST1	3	49723881	IGR	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		49723881	148298549	34	21356										
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tctcttggcaacgatggcatAtgatcgctatgtagccatat	9	9	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120						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						ACGATGGCATATGATCGCTAT	0.393																																					p.Y120C		Atlas-SNP	.											OR5H1,NS,carcinoma,0,1	OR5H1	71	1	0			c.A359G						scavenged	.						135	132	133					3																	97851900		2201	4299	6500	SO:0001583	missense	26341	exon1			TGGCATATGATCG	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.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys	Somatic	426	8	0.0187793		WXS	Illumina HiSeq	Phase_I	320	10	0.03125	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT	.	.	none		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97851900	A	G	97851900	3	3	24	1	0	0	0	0	1	0	0	0	11159	449	16	2	361	2	OR5H1	3	97851900	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	48128019	97851900	100170530	35	21357										
ABI3BP	25890	hgsc.bcm.edu	37	chr3	100497214	100497214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgggtggcaagggtgggcggCgagtccctgggattgtggat	21	6	0	0	rs564595054	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:100497214C>T	ENST00000284322.5	-	26	2223	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R659H|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1407H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	705	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGTGGGCGGCGAGTCCCTGG	0.403													C|||	2	0.000399361	0.0008	0.0	5008	,	,		12839	0.0		0.0	False		,,,				2504	0.001				p.R705H		Atlas-SNP	.											ABI3BP_ENST00000383691,colon,carcinoma,-1,2	ABI3BP	305	2	0			c.G2114A						scavenged	.						95	94	94					3																	100497214		1866	4097	5963	SO:0001583	missense	25890	exon26			GGGCGGCGAGTCC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2114G>A	3.37:g.100497214C>T	ENSP00000284322:p.Arg705His	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	52	3	0.0576923	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.38|12.38	1.919848|1.919848	0.33908|0.33908	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.23147	.|2.28;1.96;1.92	5.79|5.79	1.33|1.33	0.21861|0.21861	.|.	.|0.493767	.|0.20611	.|N	.|0.088971	T|T	0.14270|0.14270	0.0345|0.0345	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35456	.|0.037;0.027;0.502;0.01	.|B;B;B;B	.|0.22753	.|0.006;0.007;0.041;0.004	T|T	0.13575|0.13575	-1.0504|-1.0504	5|10	.|0.41790	.|T	.|0.15	-1.1719|-1.1719	4.1604|4.1604	0.10280|0.10280	0.0:0.3549:0.3169:0.3282|0.0:0.3549:0.3169:0.3282	.|.	.|659;705;1407;414	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	T|H	761|1407;705;414;116;659;117	.|ENSP00000420524:R1407H;ENSP00000284322:R705H;ENSP00000373189:R659H	.|ENSP00000284322:R705H	A|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101979904|101979904	0.123000|0.123000	0.22298|0.22298	0.538000|0.538000	0.28064|0.28064	0.889000|0.889000	0.51656|0.51656	-0.086000|-0.086000	0.11233|0.11233	0.812000|0.812000	0.34326|0.34326	0.462000|0.462000	0.41574|0.41574	GCC|CGC	.	.	none		0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			T	100497214	C	T	100497214	3	4	24	1	0	0	0	0	1	0	0	0	91	768	27	1	1153	1	ABI3BP	3	100497214	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	2645314	100497214	97525216	36	21358										
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376107	113376107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgccctgcttgttgttgttgCtgttgctgctgctgctgctg	13	10	0	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:113376107C>T	ENST00000478658.1	-	5	4439	c.4422G>A	c.(4420-4422)caG>caA	p.Q1474Q	KIAA2018_ENST00000316407.4_Silent_p.Q1474Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1474	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgttgttgctgttgctgct	0.493																																					p.Q1474Q		Atlas-SNP	.											KIAA2018,colon,carcinoma,0,1	KIAA2018	180	1	0			c.G4422A						scavenged	.						88	96	93					3																	113376107		2193	4279	6472	SO:0001819	synonymous_variant	205717	exon7			TTGTTGCTGTTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4422G>A	3.37:g.113376107C>T		Somatic	72	4	0.0555556		WXS	Illumina HiSeq	Phase_I	48	5	0.104167	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.	.	none		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376107	C	T	113376107	2	4	24	1	0	0	0	0	0	0	0	1	8268	796	28	2		2	KIAA2018	3	113376107	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	12878893	113376107	84646323	37	21359			1	91		2	2	13	C		5.891928e-05
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376119	113376119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgttgttgctgttgctgctgCtgctgctgctgctgctgctg	14	10	0	0	rs62265538|rs112313093|rs59601191		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:113376119C>T	ENST00000478658.1	-	5	4427	c.4410G>A	c.(4408-4410)caG>caA	p.Q1470Q	KIAA2018_ENST00000316407.4_Silent_p.Q1470Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1470	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgctgctgctgctgct	0.493																																					p.Q1470Q		Atlas-SNP	.											KIAA2018,rectum,carcinoma,0,1	KIAA2018	180	1	0			c.G4410A						PASS	.						58	65	63					3																	113376119		2185	4279	6464	SO:0001819	synonymous_variant	205717	exon7			CTGCTGCTGCTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4410G>A	3.37:g.113376119C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	46	9	0.195652	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			C|0.500;T|0.500	0.500	weak		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376119	C	T	113376119	2	4	24	1	0	0	0	0	0	0	0	1	8268	796	28	2		2	KIAA2018	3	113376119	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	12	113376119	84646311	38	21360			1	91		2	2	13	C		5.891928e-05
ASTE1	28990	hgsc.bcm.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggtattctgtttcttctgccINStttttttttttgaatttgat							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																					p.R632fs		Pindel	.											.	ASTE1	67	.	2	Deletion - Frameshift(2)	ovary(2)	c.1895_1896insA						PASS	.																																			SO:0001589	frameshift_variant	28990	exon6			.	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	ENST00000264992.3	37	CCDS3068.1																																																																																			.	.	none		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		T	130733047	-	T	130733046	7	5	24	1	0	1	1	0	0	0	0	0	1062	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	17356927	130733046	67289384	39	21361										
CHST2	9435	hgsc.bcm.edu	37	chr3	142839977	142839977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gaggcagctgggggcgcccaGggccgcctccggccgggccg	20	16	0	0	rs185111962	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:142839977G>A	ENST00000309575.3	+	2	1703	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	107					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ggggcgcccagggccgcctcc	0.761													G|||	32	0.00638978	0.0008	0.0115	5008	,	,		9166	0.0		0.0179	False		,,,				2504	0.0051				p.G107R		Atlas-SNP	.											.	CHST2	67	.	0			c.G319A						PASS	.	G	ARG/GLY	6,3188		0,6,1591	2	2	2		319	2.4	0.8	3		2	29,6187		0,29,3079	no	missense	CHST2	NM_004267.4	125	0,35,4670	AA,AG,GG		0.4665,0.1879,0.3719	benign	107/531	142839977	35,9375	1597	3108	4705	SO:0001583	missense	9435	exon2			CGCCCAGGGCCGC	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.319G>A	3.37:g.142839977G>A	ENSP00000307911:p.Gly107Arg	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	13	9	0.692308	NM_004267	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	22	0.010073260073260074	6	0.012195121951219513	4	0.011049723756906077	0	0.0	12	0.0158311345646438	G	4.642	0.119345	0.08881	0.001879	0.004665	ENSG00000175040	ENST00000309575	D	0.97041	-4.22	3.3	2.42	0.29668	.	.	.	.	.	D	0.85225	0.5648	N	0.14661	0.345	0.27986	N	0.935857	B	0.06786	0.001	B	0.08055	0.003	T	0.82478	-0.0437	9	0.51188	T	0.08	-12.4417	4.825	0.13412	0.1239:0.2213:0.6548:0.0	.	107	Q9Y4C5	CHST2_HUMAN	R	107	ENSP00000307911:G107R	ENSP00000307911:G107R	G	+	1	0	CHST2	144322667	0.000000	0.05858	0.845000	0.33349	0.137000	0.21094	-0.018000	0.12568	0.947000	0.37659	0.407000	0.27541	GGG	G|0.990;A|0.010	0.010	strong		0.761	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		A	142839977	G	A	142839977	3	1	24	1	0	0	0	0	1	0	0	0	3404	1000	35	2	321	2	CHST2	3	142839977	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	12106931	142839977	55182453	40	21362										
KNG1	3827	hgsc.bcm.edu	37	chr3	186437941	186437941	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aagtacgaaatcaaggagggGgattgtcctgttcaaagtgg	14	5	2	0	rs267599725		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr3:186437941G>T	ENST00000265023.4	+	2	455	c.243G>T	c.(241-243)ggG>ggT	p.G81G	KNG1_ENST00000447445.1_Silent_p.G81G|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.G81G	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	81	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TCAAGGAGGGGGATTGTCCTG	0.453																																					p.G81G		Atlas-SNP	.											KNG1_ENST00000265023,right_lower_lobe,carcinoma,+2,2	KNG1	129	2	0			c.G243T						scavenged	.						130	119	123					3																	186437941		2203	4300	6503	SO:0001819	synonymous_variant	3827	exon2			GGAGGGGGATTGT		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.243G>T	3.37:g.186437941G>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	182	3	0.0164835	NM_000893	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	CCDS43183.1																																																																																			.	.	none		0.453	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186437941	G	T	186437941	2	4	24	1	0	0	0	0	0	0	0	1	8427	1219	43	4		4	KNG1	3	186437941	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	43597964	186437941	11584489	41	21363										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tggagtgccacctgctcacaCacgtgcccatgtggagtgcc					rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																					p.98_108del		Pindel	.											.	CRIPAK	185	.	1	Substitution - Missense(1)	pancreas(1)	c.294_322del						PASS	.																																			SO:0001589	frameshift_variant	285464	exon1			.	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_175918	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																			.	.	none		0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		-	1388622	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	1388594	7	5	24	1	0	1	0	1	0	0	0	0	3877	478	17	0	297	0	CRIPAK	4	1388594	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	TCGA-GR-A4D4-01A-11D-A31X-10		1388594	189765682	42	21364										
OCIAD1	54940	hgsc.bcm.edu	37	chr4	48835428	48835428	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tggtaaaaagacatagggccTgattacattccaacagagga	10	7	0	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr4:48835428T>A	ENST00000381473.3	+	3	487	c.69T>A	c.(67-69)ccT>ccA	p.P23P	OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000513391.2_Silent_p.P23P|OCIAD1_ENST00000425583.2_Silent_p.P23P|OCIAD1_ENST00000264312.7_Silent_p.P23P|OCIAD1_ENST00000508293.1_Silent_p.P23P|OCIAD1_ENST00000396448.2_Silent_p.P23P|OCIAD1_ENST00000444354.2_Silent_p.P23P	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	23	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACATAGGGCCTGATTACATTC	0.328																																					p.P28P		Atlas-SNP	.											.	OCIAD1	27	.	0			c.T84A						PASS	.						62	65	64					4																	48835428		2203	4300	6503	SO:0001819	synonymous_variant	54940	exon3			AGGGCCTGATTAC	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.69T>A	4.37:g.48835428T>A		Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	324	82	0.253086	NM_001168254	C9K030|G8JLN7|Q9BZE8	Silent	SNP	ENST00000381473.3	37	CCDS3484.1																																																																																			.	.	none		0.328	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		A	48835428	T	A	48835428	2	1	24	1	0	0	0	0	0	0	0	1	10817	1567	55	5		5	OCIAD1	4	48835428	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	47446834	48835428	142318848	43	21365										
AGA	175	hgsc.bcm.edu	37	chr4	178355534	178355534	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttcacaaactaagaagtcatAccttggcaggaagcgcatca	8	10	3	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr4:178355534A>G	ENST00000264595.2	-	7	934		c.e7+1		AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase						protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AAGAAGTCATACCTTGGCAGG	0.448																																					.		Atlas-SNP	.											.	AGA	39	.	0			c.806+2T>C						PASS	.						127	124	125					4																	178355534		2203	4300	6503	SO:0001630	splice_region_variant	175	exon8			AGTCATACCTTGG	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.806+1T>C	4.37:g.178355534A>G		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	199	55	0.276382	NM_000027	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Splice_Site	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980000	0.34942	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1232	0.72460	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGA	178592528	1.000000	0.71417	0.913000	0.36048	0.145000	0.21501	8.511000	0.90535	2.059000	0.61396	0.528000	0.53228	.	.	.	none		0.448	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027	Intron	G	178355534	A	G	178355534	5	3	24	1	0	0	0	0	0	0	1	0	365	405	14	2	244	2	AGA	4	178355534	Splice_Site	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	129520106	178355534	12798742	44	21366										
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		Atlas-SNP	.											.	SRD5A1	31	.	0			c.C90G						PASS	.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	11	10	0.909091	NM_001047	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546	0.546	strong		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	24	1	0	0	0	0	0	0	0	1	15137	697	25	4		4	SRD5A1	5	6633779	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		6633779	174281481	45	21367										
CDH6	1004	hgsc.bcm.edu	37	chr5	31323132	31323132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggacattgtgcccgaagcccTtttcctaccccgacggactc	9	16	0	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:31323132T>C	ENST00000265071.2	+	12	2355	c.2090T>C	c.(2089-2091)cTt>cCt	p.L697P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	697					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCGAAGCCCTTTTCCTACCC	0.527																																					p.L697P		Atlas-SNP	.											CDH6,neck,malignant_melanoma,+1,1	CDH6	175	1	0			c.T2090C						scavenged	.						86	81	83					5																	31323132		2203	4300	6503	SO:0001583	missense	1004	exon12			AAGCCCTTTTCCT	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2090T>C	5.37:g.31323132T>C	ENSP00000265071:p.Leu697Pro	Somatic	123	1	0.00813008		WXS	Illumina HiSeq	Phase_I	121	2	0.0165289	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897370	0.33535	.	.	ENSG00000113361	ENST00000265071	T	0.76709	-1.04	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.175631	0.49916	D	0.000132	D	0.83658	0.5302	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.81705	-0.0811	10	0.30854	T	0.27	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	697	P55285	CADH6_HUMAN	P	697	ENSP00000265071:L697P	ENSP00000265071:L697P	L	+	2	0	CDH6	31358889	1.000000	0.71417	0.970000	0.41538	0.090000	0.18270	6.180000	0.71981	2.285000	0.76669	0.533000	0.62120	CTT	.	.	none		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		C	31323132	T	C	31323132	3	2	24	1	0	0	0	0	1	0	0	0	3114	1609	56	3	2132	3	CDH6	5	31323132	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	24689353	31323132	149592128	46	21368										
ENC1	8507	hgsc.bcm.edu	37	chr5	73930903	73930903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggccggtacagtccacctgtTttcacactgatcgtaacact	8	13	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:73930903T>C	ENST00000302351.4	-	2	2538	c.1408A>G	c.(1408-1410)Aac>Gac	p.N470D	ENC1_ENST00000510316.1_Missense_Mutation_p.N397D|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.N470D	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	470					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTCCACCTGTTTTCACACTGA	0.507																																					p.N470D		Atlas-SNP	.											.	ENC1	56	.	0			c.A1408G						PASS	.						50	56	54					5																	73930903		2203	4300	6503	SO:0001583	missense	8507	exon2			ACCTGTTTTCACA	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1408A>G	5.37:g.73930903T>C	ENSP00000306356:p.Asn470Asp	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	59	21	0.355932	NM_003633	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830609	0.50845	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66638	-0.22;-0.22;-0.22	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.33668	1.02	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.55159	-0.8184	10	0.54805	T	0.06	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	470	O14682	ENC1_HUMAN	D	470;397;470	ENSP00000306356:N470D;ENSP00000423804:N397D;ENSP00000446289:N470D	ENSP00000306356:N470D	N	-	1	0	ENC1	73966659	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	AAC	.	.	none		0.507	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		C	73930903	T	C	73930903	3	2	24	1	0	0	0	0	1	0	0	0	5113	1841	64	2	365	2	ENC1	5	73930903	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	42607771	73930903	106984357	47	21369										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79032562	79032562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tctcaggaaggaaatctagtAttagaaaagtcaagcagaga	10	5	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:79032562A>G	ENST00000446378.2	+	2	8005	c.7974A>G	c.(7972-7974)gtA>gtG	p.V2658V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2658					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATCTAGTATTAGAAAAGT	0.408																																					p.V2658V		Atlas-SNP	.											CMYA5_ENST00000446378,lower_third,carcinoma,0,2	CMYA5	643	2	0			c.A7974G						scavenged	.						48	48	48					5																	79032562		1831	4091	5922	SO:0001819	synonymous_variant	202333	exon2			TCTAGTATTAGAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7974A>G	5.37:g.79032562A>G		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																			.	.	none		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79032562	A	G	79032562	2	3	24	1	0	0	0	0	0	0	0	1	3590	436	16	2		2	CMYA5	5	79032562	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	5101659	79032562	101882698	48	21370										
PPIP5K2	23262	hgsc.bcm.edu	37	chr5	102537308	102537309	+	Frame_Shift_Ins	INS	-	-	A													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aaacagaaacgcatgaacacINSaaaaaaaacactgggaaaaa					rs201392612	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:102537308_102537309insA	ENST00000358359.3	+	31	4214_4215	c.3705_3706insA	c.(3706-3708)aaafs	p.K1236fs	PPIP5K2_ENST00000321521.9_Frame_Shift_Ins_p.K1215fs|PPIP5K2_ENST00000414217.1_Frame_Shift_Ins_p.K1215fs|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1236					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGCATGAACACAAAAAAAACAC	0.317													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	4	0.000798722	0.0	0.0	5008	,	,		16223	0.004		0.0	False		,,,				2504	0.0				p.H1235fs		Pindel	.											.	PPIP5K2	98	.	0			c.3705_3706insA						PASS	.																																			SO:0001589	frameshift_variant	23262	exon31			.	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3713dupA	5.37:g.102537316_102537316dupA	ENSP00000351126:p.Lys1236fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	12	12	1	NM_001276277	A1NI53|A6NGS8|Q8TB50	Frame_Shift_Ins	INS	ENST00000358359.3	37																																																																																				-|0.990;A|0.010	0.010	strong		0.317	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		A	102537309	-	A	102537308	7	5	24	1	0	1	1	0	0	0	0	0	12333	477	17	0	3756	0	PPIP5K2	5	102537308	Frame_Shift_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	23504746	102537308	78377952	49	21371										
DND1	373863	hgsc.bcm.edu	37	chr5	140052407	140052407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggcccacgcgctggaacagcGggataagctggtgctcgtac	15	12	0	0	rs72800920		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																					p.P76L		Atlas-SNP	.											DND1,NS,carcinoma,0,1	DND1	15	1	1	Substitution - Missense(1)	prostate(1)	c.C227T						scavenged	.						13	20	17					5																	140052407		2184	4291	6475	SO:0001583	missense	373863	exon3			AACAGCGGGATAA	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu	Somatic	21	1	0.047619		WXS	Illumina HiSeq	Phase_I	26	6	0.230769	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG	.	.	weak		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052407	G	A	140052407	3	1	24	1	0	0	0	0	1	0	0	0	4666	1116	39	1	842	1	DND1	5	140052407	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	37515099	140052407	40862853	50	21372										
RNF145	153830	hgsc.bcm.edu	37	chr5	158630641	158630641	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gccatgttgtttttttttttCtttttttttttcttggagaa	6	4	2	1	rs74770414|rs74841177|rs368977591		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.K9K|RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000274542.2_Silent_p.K23K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363																																					p.K25K		Atlas-SNP	.											RNF145,NS,carcinoma,-1,2	RNF145	110	2	0			c.G75A						scavenged	.						32	34	33					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830	exon2			TTTTTTCTTTTTT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-16G>A	5.37:g.158630641C>T		Somatic	64	3	0.046875		WXS	Illumina HiSeq	Phase_I	59	9	0.152542	NM_001199380	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																			.	.	weak		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158630641	C	T	158630641	1	4	24	0	1	0	0	0	0	0	0	0	13447	912	32	2		2	RNF145	5	158630641	5'UTR	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	18578234	158630641	22284619	51	21373										
ODZ2	57451	hgsc.bcm.edu	37	chr5	167645245	167645245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccaccaagtcagcatcattgCgggacgccccatgcactgcc	9	17	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr5:167645245C>T	ENST00000518659.1	+	23	4388	c.4349C>T	c.(4348-4350)gCg>gTg	p.A1450V	TENM2_ENST00000403607.2_Missense_Mutation_p.A1274V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1329V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1449V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1211V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1450					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGCATCATTGCGGGACGCCCC	0.502																																					p.A1441V		Atlas-SNP	.											ODZ2_ENST00000519204,NS,carcinoma,-1,3	.	.	3	0			c.C4322T						PASS	.						209	215	213					5																	167645245		2180	4278	6458	SO:0001583	missense	57451	exon23			TCATTGCGGGACG	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4349C>T	5.37:g.167645245C>T	ENSP00000429430:p.Ala1450Val	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	102	28	0.27451	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	22.2	4.263444	0.80358	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.95724	0.8769	10	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	1449;1450;1211	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1450;1449;1329;1211;1274	ENSP00000429430:A1450V;ENSP00000438635:A1449V;ENSP00000428964:A1329V;ENSP00000427874:A1211V;ENSP00000384905:A1274V	ENSP00000384905:A1274V	A	+	2	0	ODZ2	167577823	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	6.089000	0.71384	2.709000	0.92574	0.655000	0.94253	GCG	.	.	none		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167645245	C	T	167645245	3	4	24	1	0	0	0	0	1	0	0	0	10835	768	27	1	4412	1	ODZ2	5	167645245	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	9014604	167645245	13270015	52	21374										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gccccggagccctgctgaggINStgctgctgctgctgctgctg							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		Atlas-Indel	.											.	ATXN1	117	.	0			c.678_679insGCA						PASS	.																																			SO:0001652	inframe_insertion	6310	exon7			.	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	47	15	0.319149	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.	.	weak		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327865	-	TGC	16327864	7	5	24	1	0	1	1	0	0	0	0	0	1209	1252	44	0	1777	0	ATXN1	6	16327864	In_Frame_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10		16327864	154787203	53	21375										
HDGFL1	154150	hgsc.bcm.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agggcggcggaagcggagagINSggcggcggcggcggcggcgg					rs370190435|rs536582109	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419				p.R181delinsRA		Atlas-Indel	.											.	HDGFL1	33	.	0			c.542_543insGGC						PASS	.																																			SO:0001652	inframe_insertion	154150	exon1			.	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	42	15	0.357143	NM_138574	Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	CCDS34347.1																																																																																			.	.	none		0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		GGC	22570347	-	GGC	22570346	7	5	24	1	0	1	1	0	0	0	0	0	7019	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	6242482	22570346	148544721	54	21376										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056500	26056500	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cagagaaactccgctacgctCtttagaggcggccacagcct	10	14	1	2	rs372319415		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:26056500C>T	ENST00000343677.2	-	1	199	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	53	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCGCTACGCTCTTTAGAGGCG	0.552																																					p.E53K		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G157A						PASS	.						65	74	71					6																	26056500		2203	4300	6503	SO:0001583	missense	3006	exon1			TACGCTCTTTAGA	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.157G>A	6.37:g.26056500C>T	ENSP00000339566:p.Glu53Lys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	117	66	0.564103	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297068	0.81025	.	.	ENSG00000187837	ENST00000343677	T	0.35048	1.33	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.180300	0.47852	D	0.000208	T	0.72350	0.3449	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81922	-0.0711	10	0.87932	D	0	-77.7995	19.248	0.93909	0.0:1.0:0.0:0.0	.	53	P16403	H12_HUMAN	K	53	ENSP00000339566:E53K	ENSP00000339566:E53K	E	-	1	0	HIST1H1C	26164479	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	5.774000	0.68906	2.861000	0.98227	0.655000	0.94253	GAG	.	.	alt		0.552	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056500	C	T	26056500	3	4	24	1	0	0	0	0	1	0	0	0	7124	922	32	2	488	2	HIST1H1C	6	26056500	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	3486154	26056500	145058567	55	21377										
KIAA1949	170954	hgsc.bcm.edu	37	chr6	30652888	30652888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctgcggaactgttgccttggGcctcccttgtcagggtctcg	13	13	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:30652888G>T	ENST00000274853.3	-	1	2784	c.908C>A	c.(907-909)gCc>gAc	p.A303D	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Missense_Mutation_p.A303D|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	303						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A303V(1)									GTTGCCTTGGGCCTCCCTTGT	0.572																																					p.A303D		Atlas-SNP	.											KIAA1949,rectum,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	large_intestine(1)	c.C908A						PASS	.						88	107	101					6																	30652888		1431	2652	4083	SO:0001583	missense	170954	exon2			CCTTGGGCCTCCC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.908C>A	6.37:g.30652888G>T	ENSP00000274853:p.Ala303Asp	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	65	5	0.0769231	NM_001134870	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674709	0.14841	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.23950	1.88;1.88	5.27	-3.84	0.04256	.	1.204620	0.06234	N	0.689171	T	0.05731	0.0150	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.29176	0.099	T	0.42882	-0.9425	10	0.48119	T	0.1	0.5484	6.0357	0.19706	0.3447:0.3544:0.3008:0.0	.	303	Q6NYC8	PPR18_HUMAN	D	303	ENSP00000274853:A303D;ENSP00000382150:A303D	ENSP00000274853:A303D	A	-	2	0	KIAA1949	30760867	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.144000	0.10280	-0.347000	0.08299	0.561000	0.74099	GCC	.	.	none		0.572	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		T	30652888	G	T	30652888	3	4	24	1	0	0	0	0	1	0	0	0	8263	1203	42	4	945	4	KIAA1949	6	30652888	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	4596388	30652888	140462179	56	21378										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487170	32487170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	attccactgtgagagggctcGtcacgcttgggtgctccact	12	12	1	1	rs1136633	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:32487170G>A	ENST00000374975.3	-	3	691	c.629C>T	c.(628-630)aCg>aTg	p.T210M		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GAGAGGGCTCGTCACGCTTGG	0.488													A|||	1326	0.264776	0.1876	0.3184	5008	,	,		12433	0.2956		0.2604	False		,,,				2504	0.3037				p.T210M		Atlas-SNP	.											HLA-DRB5,NS,carcinoma,+1,1	HLA-DRB5	31	1	0			c.C629T						scavenged	.	A	MET/THR	491,3289		88,315,1487	73	83	80		629	-8.7	0	6	dbSNP_86	80	1057,6447		111,835,2806	no	missense	HLA-DRB5	NM_002125.3	81	199,1150,4293	AA,AG,GG		14.0858,12.9894,13.7185	benign	210/267	32487170	1548,9736	1890	3752	5642	SO:0001583	missense	3127	exon3			GGGCTCGTCACGC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.629C>T	6.37:g.32487170G>A	ENSP00000364114:p.Thr210Met	Somatic	86	4	0.0465116		WXS	Illumina HiSeq	Phase_I	106	11	0.103774	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	1.089	-0.664536	0.03428	0.129894	0.140858	ENSG00000198502	ENST00000374975	T	0.03124	4.04	4.36	-8.71	0.00848	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.255310	0.05108	N	0.488406	T	0.01254	0.0041	M	0.79011	2.435	0.80722	P	0.0	B;B	0.20459	0.045;0.007	B;B	0.13407	0.009;0.003	T	0.44421	-0.9329	9	0.42905	T	0.14	.	1.1219	0.01726	0.2262:0.1878:0.1331:0.4529	.	137;210	Q29973;Q30154	.;DRB5_HUMAN	M	210	ENSP00000364114:T210M	ENSP00000364114:T210M	T	-	2	0	HLA-DRB5	32595148	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.520000	0.00951	-1.663000	0.01481	-0.992000	0.02543	ACG	G|0.440;A|0.560	0.560	strong		0.488	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		A	32487170	G	A	32487170	3	1	24	1	0	0	0	0	1	0	0	0	7209	1145	40	1	187	1	HLA-DRB5	6	32487170	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	1834282	32487170	138627897	57	21379										
KCTD20	222658	hgsc.bcm.edu	37	chr6	36452603	36452604	+	Splice_Site	INS	-	-	A													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttcgcattggaattgaaggtINSaaaaaaaaaaaaaaaatccc					rs11450552|rs528951573|rs201092661		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:36452603_36452604insA	ENST00000373731.2	+	7	1358		c.e7+2		KCTD20_ENST00000474988.1_Splice_Site|KCTD20_ENST00000449081.2_Splice_Site|KCTD20_ENST00000536244.1_Splice_Site|KCTD20_ENST00000544295.1_Splice_Site	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20						protein homooligomerization (GO:0051260)			p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GAATTGAAGGTAAAAAAAAAAA	0.376																																					.		Pindel	.											.	KCTD20	37	.	1	Unknown(1)	lung(1)	c.967+2->A						PASS	.																																			SO:0001630	splice_region_variant	222658	exon7			.	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.967+2->A	6.37:g.36452614_36452614dupA		Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Splice_Site	INS	ENST00000373731.2	37	CCDS4821.1																																																																																			.	.	weak		0.376	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	Intron	A	36452604	-	A	36452603	8	5	24	1	0	1	1	0	0	0	1	0	8108	1652	57	0	991	0	KCTD20	6	36452603	Splice_Site	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	3965433	36452603	134662464	58	21380										
KCTD20	222658	hgsc.bcm.edu	37	chr6	36454876	36454876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccaggagatattaatgcatcAcccaccccaagtggatgaac	8	12	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:36454876A>C	ENST00000373731.2	+	8	1575	c.1184A>C	c.(1183-1185)cAc>cCc	p.H395P	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.H229P|KCTD20_ENST00000536244.1_Missense_Mutation_p.H250P|KCTD20_ENST00000544295.1_Missense_Mutation_p.H149P	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	395					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAATGCATCACCCACCCCAA	0.502																																					p.H395P		Atlas-SNP	.											KCTD20,NS,lymphoid_neoplasm,+1,1	KCTD20	37	1	0			c.A1184C						scavenged	.						214	214	214					6																	36454876		2203	4300	6503	SO:0001583	missense	222658	exon8			TGCATCACCCACC	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1184A>C	6.37:g.36454876A>C	ENSP00000362836:p.His395Pro	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	184	40	0.217391	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315570	0.60524	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	T;T	0.44881	0.91;0.97	5.91	5.91	0.95273	.	0.121605	0.56097	D	0.000028	T	0.10551	0.0258	N	0.04508	-0.205	0.51012	D	0.9999	B;B	0.12013	0.004;0.005	B;B	0.12156	0.007;0.006	T	0.12528	-1.0544	10	0.27785	T	0.31	-22.5018	12.2309	0.54486	0.8582:0.1418:0.0:0.0	.	229;395	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	P	395;149;229;250	ENSP00000362836:H395P;ENSP00000439118:H250P	ENSP00000362836:H395P	H	+	2	0	KCTD20	36562854	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.355000	0.59424	2.252000	0.74401	0.533000	0.62120	CAC	.	.	none		0.502	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		C	36454876	A	C	36454876	3	2	24	1	0	0	0	0	1	0	0	0	8108	159	6	5	1210	5	KCTD20	6	36454876	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	2273	36454876	134660191	59	21381										
GLP1R	2740	hgsc.bcm.edu	37	chr6	39016636	39016636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	catggccggcgcccccggccCgctgcgccttgcgctgctgc	14	20	0	0	rs10305420	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:39016636C>T	ENST00000373256.4	+	1	63	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	7			P -> L (in dbSNP:rs10305420). {ECO:0000269|Ref.7}.		activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCCCCCGGCCCGCTGCGCCTT	0.766													C|||	932	0.186102	0.0356	0.2695	5008	,	,		10553	0.1369		0.3877	False		,,,				2504	0.1738				p.P7L		Atlas-SNP	.											.	GLP1R	64	.	0			c.C20T						PASS	.	C	LEU/PRO	186,2780		12,162,1309	2	3	3		20	1.3	0	6	dbSNP_119	3	2034,4610		310,1414,1598	no	missense	GLP1R	NM_002062.3	98	322,1576,2907	TT,TC,CC		30.6141,6.2711,23.1009	benign	7/464	39016636	2220,7390	1483	3322	4805	SO:0001583	missense	2740	exon1			CCGGCCCGCTGCG		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.20C>T	6.37:g.39016636C>T	ENSP00000362353:p.Pro7Leu	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	8	8	1	NM_002062	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	497	0.22756410256410256	22	0.044715447154471545	95	0.26243093922651933	83	0.1451048951048951	297	0.391820580474934	C	1.985	-0.433185	0.04669	0.062711	0.306141	ENSG00000112164	ENST00000373256	T	0.49139	0.79	3.68	1.31	0.21738	.	1.201990	0.06565	N	0.747451	T	0.10937	0.0267	L	0.29908	0.895	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.16748	-1.0392	9	0.07813	T	0.8	.	5.2043	0.15283	0.0:0.6091:0.0:0.3909	rs10305420	7	P43220	GLP1R_HUMAN	L	7	ENSP00000362353:P7L	ENSP00000362353:P7L	P	+	2	0	GLP1R	39124614	0.005000	0.15991	0.044000	0.18714	0.506000	0.33950	-0.330000	0.07925	-0.087000	0.12528	0.313000	0.20887	CCG	C|0.770;T|0.230	0.230	strong		0.766	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			T	39016636	C	T	39016636	3	4	24	1	0	0	0	0	1	0	0	0	6452	652	23	1	22	1	GLP1R	6	39016636	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	2561760	39016636	132098431	60	21382										
COL21A1	81578	hgsc.bcm.edu	37	chr6	56006741	56006741	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cacatacttgtattcctggaGatcctggaacacctggtgtc	9	11	0	1	rs575546564		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:56006741G>T	ENST00000244728.5	-	11	1872	c.1475C>A	c.(1474-1476)tCt>tAt	p.S492Y	COL21A1_ENST00000535941.1_Missense_Mutation_p.S492Y|COL21A1_ENST00000370819.1_Missense_Mutation_p.S489Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	492	Collagen-like 1.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATTCCTGGAGATCCTGGAAC	0.274																																					p.S492Y		Atlas-SNP	.											.	COL21A1	201	.	0			c.C1475A						PASS	.						46	45	46					6																	56006741		911	2069	2980	SO:0001583	missense	81578	exon11			CCTGGAGATCCTG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1475C>A	6.37:g.56006741G>T	ENSP00000244728:p.Ser492Tyr	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	125	27	0.216	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.876|8.876	0.950487|0.950487	0.18431|0.18431	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000456983|ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.|D;D;D	.|0.92858	.|-3.12;-3.12;-3.12	5.27|5.27	4.39|4.39	0.52855|0.52855	.|.	.|0.116551	.|0.37715	.|N	.|0.001980	D|D	0.91192|0.91192	0.7225|0.7225	M|M	0.64170|0.64170	1.965|1.965	0.58432|0.58432	D|D	0.999996|0.999996	.|P;D	.|0.57257	.|0.955;0.979	.|P;P	.|0.55222	.|0.566;0.771	D|D	0.91203|0.91203	0.4993|0.4993	5|10	.|0.59425	.|D	.|0.04	.|.	9.1386|9.1386	0.36890|0.36890	0.0978:0.0:0.9022:0.0|0.0978:0.0:0.9022:0.0	.|.	.|489;492	.|Q96P44-3;Q96P44	.|.;COLA1_HUMAN	I|Y	56|492;489;492;489	.|ENSP00000244728:S492Y;ENSP00000359855:S489Y;ENSP00000444384:S492Y	.|ENSP00000244728:S492Y	L|S	-|-	1|2	0|0	COL21A1|COL21A1	56114700|56114700	0.981000|0.981000	0.34729|0.34729	0.814000|0.814000	0.32528|0.32528	0.926000|0.926000	0.56050|0.56050	3.065000|3.065000	0.49994|0.49994	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CTC|TCT	.	.	none		0.274	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	56006741	G	T	56006741	3	4	24	1	0	0	0	0	1	0	0	0	3680	942	33	4	1478	4	COL21A1	6	56006741	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	16990105	56006741	115108326	61	21383										
HDAC2	3066	hgsc.bcm.edu	37	chr6	114262899	114262899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tatctgttttttcaccactgTtgtccttggatttatcttct	5	9	4	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:114262899T>A	ENST00000519065.1	-	13	1785	c.1409A>T	c.(1408-1410)aAc>aTc	p.N470I	HDAC2_ENST00000368632.2_Missense_Mutation_p.N440I|HDAC2_ENST00000398283.2_Missense_Mutation_p.N564I|HDAC2_ENST00000519108.1_Missense_Mutation_p.N440I			Q92769	HDAC2_HUMAN	histone deacetylase 2	470					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TTCACCACTGTTGTCCTTGGA	0.259																																					p.N470I		Atlas-SNP	.											.	HDAC2	102	.	0			c.A1409T						PASS	.						69	67	68					6																	114262899		1809	4070	5879	SO:0001583	missense	3066	exon13			CCACTGTTGTCCT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1409A>T	6.37:g.114262899T>A	ENSP00000430432:p.Asn470Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	74	20	0.27027	NM_001527	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570458	0.45798	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.74421	-0.8;-0.84;-0.8;-0.8	5.76	-1.27	0.09347	.	0.077961	0.52532	D	0.000075	T	0.27900	0.0687	N	0.02802	-0.49	0.38410	D	0.945915	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.03157	-1.1066	10	0.37606	T	0.19	-17.9783	10.9454	0.47297	0.0:0.4618:0.0:0.5382	.	440;470	B3KRS5;Q92769	.;HDAC2_HUMAN	I	470;564;440;440	ENSP00000430432:N470I;ENSP00000381331:N564I;ENSP00000430008:N440I;ENSP00000357621:N440I	ENSP00000357621:N440I	N	-	2	0	HDAC2	114369592	0.695000	0.27747	0.882000	0.34594	0.996000	0.88848	-0.363000	0.07593	-0.108000	0.12066	0.528000	0.53228	AAC	.	.	none		0.259	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			A	114262899	T	A	114262899	3	1	24	1	0	0	0	0	1	0	0	0	7007	1725	60	5	65	5	HDAC2	6	114262899	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	58256158	114262899	56852168	62	21384			2	92		2	2	14	T		6.382906e-05
HDAC2	3066	hgsc.bcm.edu	37	chr6	114262912	114262912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	accactgttgtccttggattTatcttcttccttaacgtcta	5	11	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:114262912T>G	ENST00000519065.1	-	13	1772	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	HDAC2_ENST00000368632.2_Missense_Mutation_p.K436Q|HDAC2_ENST00000398283.2_Missense_Mutation_p.K560Q|HDAC2_ENST00000519108.1_Missense_Mutation_p.K436Q			Q92769	HDAC2_HUMAN	histone deacetylase 2	466					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TCCTTGGATTTATCTTCTTCC	0.234																																					p.K466Q		Atlas-SNP	.											.	HDAC2	102	.	0			c.A1396C						PASS	.						64	62	63					6																	114262912		1805	4060	5865	SO:0001583	missense	3066	exon13			TGGATTTATCTTC	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1396A>C	6.37:g.114262912T>G	ENSP00000430432:p.Lys466Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	76	20	0.263158	NM_001527	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372576	0.61624	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.75260	-0.87;-0.92;-0.87;-0.87	5.76	5.76	0.90799	.	0.075114	0.56097	D	0.000037	T	0.62575	0.2439	L	0.40543	1.245	0.48696	D	0.999691	D;B	0.57899	0.981;0.137	P;B	0.49637	0.617;0.019	T	0.61540	-0.7042	10	0.21014	T	0.42	-36.1428	14.6077	0.68493	0.0:0.0:0.0:1.0	.	436;466	B3KRS5;Q92769	.;HDAC2_HUMAN	Q	466;560;436;436	ENSP00000430432:K466Q;ENSP00000381331:K560Q;ENSP00000430008:K436Q;ENSP00000357621:K436Q	ENSP00000357621:K436Q	K	-	1	0	HDAC2	114369605	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.297000	0.59061	2.323000	0.78572	0.528000	0.53228	AAA	.	.	none		0.234	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			G	114262912	T	G	114262912	3	3	24	1	0	0	0	0	1	0	0	0	7007	1763	61	5	78	5	HDAC2	6	114262912	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	13	114262912	56852155	63	21385			2	92		2	2	14	T		6.382906e-05
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|LRP11_ENST00000546019.1_Intron	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		Atlas-SNP	.											.	LRP11	27	.	0			c.C275G						PASS	.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	13	8	0.615385	NM_032832	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.491;C|0.509	0.509	strong		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	24	1	0	0	0	0	1	0	0	0	8953	1116	39	4	1255	4	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	35921970	150184882	20930185	64	21386										
CARD11	84433	hgsc.bcm.edu	37	chr7	2977614	2977614	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggtgcttgtacatttcacagTcctttcccagggtcgagcac	10	12	1	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr7:2977614T>A	ENST00000396946.4	-	8	1473	c.1070A>T	c.(1069-1071)gAc>gTc	p.D357V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	357					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.D350V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CATTTCACAGTCCTTTCCCAG	0.567			Mis		DLBCL																																p.D357V		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	CARD11,NS,lymphoid_neoplasm,0,4	CARD11	339	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1070T						PASS	.						153	124	134					7																	2977614		2203	4300	6503	SO:0001583	missense	84433	exon8			TCACAGTCCTTTC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1070A>T	7.37:g.2977614T>A	ENSP00000380150:p.Asp357Val	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	44	23	0.522727	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568717	0.86439	.	.	ENSG00000198286	ENST00000396946	T	0.35605	1.3	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60682	-0.7215	10	0.72032	D	0.01	-47.8827	13.8813	0.63684	0.0:0.0:0.0:1.0	.	357	Q9BXL7	CAR11_HUMAN	V	357	ENSP00000380150:D357V	ENSP00000380150:D357V	D	-	2	0	CARD11	2944140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	1.878000	0.54408	0.482000	0.46254	GAC	.	.	none		0.567	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2977614	T	A	2977614	3	1	24	1	0	0	0	0	1	0	0	0	2645	1667	58	5	2466	5	CARD11	7	2977614	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10		2977614	156161049	65	21387										
TXNDC3	51314	hgsc.bcm.edu	37	chr7	37907335	37907335	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agagtttgtctcttttatgaCaagtggcttaagctatattc	8	6	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr7:37907335C>G	ENST00000199447.4	+	11	1025	c.653C>G	c.(652-654)aCa>aGa	p.T218R	NME8_ENST00000440017.1_Missense_Mutation_p.T218R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	218	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCTTTTATGACAAGTGGCTTA	0.398																																					p.T218R		Atlas-SNP	.											.	.	.	.	0			c.C653G						PASS	.						128	121	123					7																	37907335		2203	4300	6503	SO:0001583	missense	51314	exon11			TTATGACAAGTGG	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.653C>G	7.37:g.37907335C>G	ENSP00000199447:p.Thr218Arg	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	138	29	0.210145	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039377	0.35989	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.50001	0.76;0.76	5.1	4.21	0.49690	.	0.000000	0.47093	D	0.000242	T	0.67335	0.2882	M	0.87758	2.905	0.31171	N	0.703179	D	0.58970	0.984	D	0.66847	0.947	T	0.71009	-0.4716	10	0.62326	D	0.03	-34.9938	8.5596	0.33503	0.0:0.8992:0.0:0.1007	.	218	Q8N427	TXND3_HUMAN	R	218	ENSP00000199447:T218R;ENSP00000397063:T218R	ENSP00000199447:T218R	T	+	2	0	TXNDC3	37873860	0.195000	0.23338	0.984000	0.44739	0.025000	0.11179	0.270000	0.18607	2.756000	0.94617	0.563000	0.77884	ACA	.	.	none		0.398	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		G	37907335	C	G	37907335	3	3	24	1	0	0	0	0	1	0	0	0	16795	478	17	4	687	4	TXNDC3	7	37907335	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	34929721	37907335	121231328	66	21388										
ATXN7L1	222255	hgsc.bcm.edu	37	chr7	105254603	105254603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acctgtctcactatgtccgcGgggccgccgggcagcgaggt	15	14	1	0	rs147930086	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr7:105254603G>A	ENST00000419735.3	-	10	2223	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P	ATXN7L1_ENST00000388807.4_Silent_p.P386P|ATXN7L1_ENST00000477775.1_Silent_p.P602P	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	726	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CTATGTCCGCGGGGCCGCCGG	0.647													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		15422	0.0		0.001	False		,,,				2504	0.0				p.P726P		Atlas-SNP	.											.	ATXN7L1	56	.	0			c.C2178T						PASS	.						29	29	29					7																	105254603		692	1591	2283	SO:0001819	synonymous_variant	222255	exon10			GTCCGCGGGGCCG	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2178C>T	7.37:g.105254603G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	81	24	0.296296	NM_020725	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																			G|0.998;A|0.002	0.002	strong		0.647	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			A	105254603	G	A	105254603	2	1	24	1	0	0	0	0	0	0	0	1	1216	1103	39	1		1	ATXN7L1	7	105254603	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	67347268	105254603	53884060	67	21389										
ERICH1	157697	hgsc.bcm.edu	37	chr8	623759	623759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cctctcccacgccttcccctTcattgctgctgtcctcgggc	7	20	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:623759T>G	ENST00000262109.7	-	4	670	c.593A>C	c.(592-594)gAa>gCa	p.E198A	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.E104A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	198	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GCCTTCCCCTTCATTGCTGCT	0.547																																					p.E198A		Atlas-SNP	.											.	ERICH1	50	.	0			c.A593C						PASS	.						92	87	89					8																	623759		2203	4300	6503	SO:0001583	missense	157697	exon4			TCCCCTTCATTGC		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.593A>C	8.37:g.623759T>G	ENSP00000262109:p.Glu198Ala	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	69	10	0.144928	NM_207332	A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275783	0.40294	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.39787	1.06;1.08	5.84	5.84	0.93424	.	0.402558	0.26883	N	0.022004	T	0.46698	0.1406	L	0.34521	1.04	0.28111	N	0.930986	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.66196	0.91;0.91;0.942	T	0.38672	-0.9650	10	0.19147	T	0.46	-8.068	9.445	0.38693	0.1582:0.0:0.0:0.8418	.	198;198;104	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	A	198;104;198	ENSP00000428635:E104A;ENSP00000262109:E198A	ENSP00000262109:E198A	E	-	2	0	ERICH1	613759	0.869000	0.29996	0.467000	0.27180	0.016000	0.09150	2.241000	0.43097	2.216000	0.71823	0.533000	0.62120	GAA	.	.	none		0.547	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		G	623759	T	G	623759	3	3	24	1	0	0	0	0	1	0	0	0	5230	1783	62	5	750	5	ERICH1	8	623759	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10		623759	145740263	68	21390										
SLC7A2	6542	hgsc.bcm.edu	37	chr8	17409482	17409482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tcgcagctggttctctctgcGccttgtcaacaaggtacatt	9	12	3	0	rs139867348		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:17409482G>A	ENST00000494857.1	+	7	1260	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SLC7A2_ENST00000004531.10_Missense_Mutation_p.A388T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A348T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A388T|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A388T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	348					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A348T(1)|p.A388T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTCTCTGCGCCTTGTCAAC	0.478																																					p.A388T		Atlas-SNP	.											SLC7A2_ENST00000470360,NS,carcinoma,0,4	SLC7A2	157	4	2	Substitution - Missense(2)	endometrium(2)	c.G1162A						PASS	.	G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80	80	80		1042,1162,1162	5.3	1	8	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense,missense	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	348/659,388/699,388/698	17409482	1,13005	2203	4300	6503	SO:0001583	missense	6542	exon6			CTCTGCGCCTTGT	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1042G>A	8.37:g.17409482G>A	ENSP00000419140:p.Ala348Thr	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	134	41	0.30597	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064440	0.93898	2.27E-4	0.0	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.91635	0.761;0.989;0.999	D	0.95700	0.8748	10	0.87932	D	0	.	19.2416	0.93887	0.0:0.0:1.0:0.0	.	388;388;348	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	348;348;388;388;388	ENSP00000419140:A348T;ENSP00000430464:A348T;ENSP00000419873:A388T;ENSP00000004531:A388T;ENSP00000381164:A388T	ENSP00000004531:A388T	A	+	1	0	SLC7A2	17453860	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	9.869000	0.99810	2.621000	0.88768	0.655000	0.94253	GCC	G|1.000;A|0.000	0.000	weak		0.478	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17409482	G	A	17409482	3	1	24	1	0	0	0	0	1	0	0	0	14697	1087	38	1	1184	1	SLC7A2	8	17409482	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	16785723	17409482	128954540	69	21391										
KIAA1967	57805	hgsc.bcm.edu	37	chr8	22472491	22472491	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcgcaggcccagactggcatTgatttgagcggctgtaccaa	13	11	0	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:22472491T>A	ENST00000308511.4	+	11	1431	c.1182T>A	c.(1180-1182)atT>atA	p.I394I	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Silent_p.I394I|CCAR2_ENST00000520861.1_Silent_p.I69I			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	394					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGACTGGCATTGATTTGAGCG	0.642																																					p.I394I		Atlas-SNP	.											.	KIAA1967	72	.	0			c.T1182A						PASS	.						43	32	36					8																	22472491		2202	4297	6499	SO:0001819	synonymous_variant	57805	exon11			TGGCATTGATTTG	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1182T>A	8.37:g.22472491T>A		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	46	14	0.304348	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868204	0.17250	.	.	ENSG00000158941	ENST00000520738	.	.	.	5.53	-8.45	0.00946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7173	8.7499	0.34609	0.0777:0.1142:0.0771:0.7309	.	.	.	.	X	86	.	.	L	+	2	0	KIAA1967	22528436	0.238000	0.23825	0.522000	0.27862	0.623000	0.37688	-0.487000	0.06505	-1.792000	0.01259	-0.290000	0.09829	TTG	.	.	none		0.642	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		A	22472491	T	A	22472491	2	1	24	1	0	0	0	0	0	0	0	1	8265	1800	63	5		5	KIAA1967	8	22472491	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	5063009	22472491	123891531	70	21392										
FNTA	2339	hgsc.bcm.edu	37	chr8	42940407	42940407	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agcacagaaaatgactcaccAacaaatgtacagcaataaca	5	10	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:42940407A>T	ENST00000302279.3	+	9	1316	c.1122A>T	c.(1120-1122)ccA>ccT	p.P374P	FNTA_ENST00000529687.1_Silent_p.P223P|FNTA_ENST00000342116.4_Silent_p.P307P	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	374					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGACTCACCAACAAATGTAC	0.393																																					p.P374P		Atlas-SNP	.											.	FNTA	34	.	0			c.A1122T						PASS	.						99	85	90					8																	42940407		2203	4300	6503	SO:0001819	synonymous_variant	2339	exon9			CTCACCAACAAAT	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1122A>T	8.37:g.42940407A>T		Somatic	379	0	0		WXS	Illumina HiSeq	Phase_I	343	97	0.282799	NM_002027	A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	37	CCDS6140.1																																																																																			.	.	none		0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		T	42940407	A	T	42940407	2	4	24	1	0	0	0	0	0	0	0	1	5977	117	5	5		5	FNTA	8	42940407	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	20467916	42940407	103423615	71	21393										
ANKRD46	157567	hgsc.bcm.edu	37	chr8	101541987	101541987	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aaaagccgcttggaataattAaagtccccatcaatacaggc	7	10	1	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:101541987A>T	ENST00000520552.1	-	3	236	c.75T>A	c.(73-75)ttT>ttA	p.F25L	ANKRD46_ENST00000519316.1_Missense_Mutation_p.F25L|ANKRD46_ENST00000519597.1_Missense_Mutation_p.F25L|ANKRD46_ENST00000335659.3_Missense_Mutation_p.F25L|ANKRD46_ENST00000520311.1_Missense_Mutation_p.F25L	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	25						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			TGGAATAATTAAAGTCCCCAT	0.468																																					p.F25L		Atlas-SNP	.											.	ANKRD46	13	.	0			c.T75A						PASS	.						74	70	71					8																	101541987		2203	4300	6503	SO:0001583	missense	157567	exon3			ATAATTAAAGTCC	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.75T>A	8.37:g.101541987A>T	ENSP00000429015:p.Phe25Leu	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	138	38	0.275362	NM_001270378	Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051020	0.19827	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.61040	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.14	5.78	0.537	0.17144	Ankyrin repeat-containing domain (4);	0.178647	0.51477	D	0.000097	T	0.17831	0.0428	N	0.00960	-1.095	0.43740	D	0.99623	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31861	-0.9928	10	0.02654	T	1	.	5.2114	0.15318	0.5244:0.1482:0.3274:0.0	.	25;25	Q86W74-2;Q86W74	.;ANR46_HUMAN	L	25	ENSP00000429015:F25L;ENSP00000335287:F25L;ENSP00000430056:F25L;ENSP00000428388:F25L;ENSP00000430827:F25L;ENSP00000351881:F25L;ENSP00000430357:F25L;ENSP00000430800:F25L;ENSP00000429647:F25L	ENSP00000335287:F25L	F	-	3	2	ANKRD46	101611163	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.814000	0.27239	0.139000	0.18822	0.533000	0.62120	TTT	.	.	none		0.468	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		T	101541987	A	T	101541987	3	4	24	1	0	0	0	0	1	0	0	0	674	359	13	5	623	5	ANKRD46	8	101541987	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	58601580	101541987	44822035	72	21394										
ZNF706	51123	hgsc.bcm.edu	37	chr8	102212299	102212299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttgctctcaaagtgctgcttGaaggtcttagggtctggcat	12	8	3	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:102212299G>T	ENST00000520347.1	-	3	3118	c.162C>A	c.(160-162)ttC>ttA	p.F54L	ZNF706_ENST00000518336.1_Missense_Mutation_p.F54L|ZNF706_ENST00000517844.1_Missense_Mutation_p.F54L|ZNF706_ENST00000520984.1_Missense_Mutation_p.F54L|ZNF706_ENST00000519744.1_Intron|ZNF706_ENST00000311212.4_Missense_Mutation_p.F54L|ZNF706_ENST00000519882.1_Missense_Mutation_p.F54L|ZNF706_ENST00000521272.1_Missense_Mutation_p.F54L			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	54							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			AGTGCTGCTTGAAGGTCTTAG	0.368																																					p.F54L		Atlas-SNP	.											.	ZNF706	12	.	0			c.C162A						PASS	.						163	147	152					8																	102212299		2203	4300	6503	SO:0001583	missense	51123	exon4			CTGCTTGAAGGTC	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.162C>A	8.37:g.102212299G>T	ENSP00000430823:p.Phe54Leu	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_001042510	A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.728806|4.728806	0.89390|0.89390	.|.	.|.	ENSG00000120963|ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336|ENST00000519103	.|.	.|.	.|.	5.87|5.87	5.0|5.0	0.66597|0.66597	Zinc finger, C2H2-like (1);|.	0.044791|.	0.85682|.	D|.	0.000000|.	T|.	0.70824|.	0.3268|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.40534|.	0.72|.	P|.	0.48704|.	0.587|.	T|.	0.70260|.	-0.4921|.	8|.	0.28530|.	T|.	0.3|.	.|.	15.045|15.045	0.71822|0.71822	0.0678:0.0:0.9321:0.0|0.0678:0.0:0.9321:0.0	.|.	54|.	Q9Y5V0|.	ZN706_HUMAN|.	L|X	54|35	.|.	ENSP00000311768:F54L|.	F|S	-|-	3|2	2|0	ZNF706|ZNF706	102281475|102281475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.646000|3.646000	0.54396|0.54396	1.500000|1.500000	0.48636|0.48636	0.655000|0.655000	0.94253|0.94253	TTC|TCA	.	.	none		0.368	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		T	102212299	G	T	102212299	3	4	24	1	0	0	0	0	1	0	0	0	18107	1281	45	4	72	4	ZNF706	8	102212299	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	670312	102212299	44151723	73	21395										
C8orf85	441376	hgsc.bcm.edu	37	chr8	117950758	117950758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcggcggcgcgggaggagcaGagctggacgggcgttgaggc	23	9	0	2	rs111477672	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr8:117950758G>T	ENST00000378279.3	+	1	321	c.276G>T	c.(274-276)caG>caT	p.Q92H		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	92	Ala/Arg-rich.				lung development (GO:0030324)												GGGAGGAgcagagctggacgg	0.761													G|||	75	0.014976	0.0015	0.0159	5008	,	,		9938	0.0		0.0547	False		,,,				2504	0.0072				p.Q92H		Atlas-SNP	.											.	.	.	.	0			c.G276T						PASS	.						2	3	2					8																	117950758		1194	2634	3828	SO:0001583	missense	441376	exon1			GGAGCAGAGCTGG	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"Alanine and arginine-rich domain-containing protein"		"chromosome 8 open reading frame 85"	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.276G>T	8.37:g.117950758G>T	ENSP00000367528:p.Gln92His	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	11	10	0.909091	NM_001025357	A5PKU8	Missense_Mutation	SNP	ENST00000378279.3	37	CCDS34935.1	53	0.024267399267399268	5	0.01016260162601626	7	0.019337016574585635	0	0.0	41	0.05408970976253298	G	7.346	0.621816	0.14193	.	.	ENSG00000205002	ENST00000378279	T	0.32515	1.45	3.52	0.485	0.16830	.	1.349340	0.05344	N	0.530724	T	0.05456	0.0144	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.57548	0.823	T	0.06445	-1.0826	10	0.30854	T	0.27	-0.5551	2.1438	0.03782	0.1165:0.1949:0.4883:0.2002	.	92	Q4LEZ3	AARD_HUMAN	H	92	ENSP00000367528:Q92H	ENSP00000367528:Q92H	Q	+	3	2	C8orf85	118019939	0.000000	0.05858	0.004000	0.12327	0.408000	0.30992	0.044000	0.13992	-0.030000	0.13804	0.455000	0.32223	CAG	G|0.976;T|0.024	0.024	strong		0.761	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		T	117950758	G	T	117950758	3	4	24	1	0	0	0	0	1	0	0	0	2441	933	33	4	278	4	C8orf85	8	117950758	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	15738459	117950758	28413264	74	21396										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2039777	2039785	+	In_Frame_Del	DEL	CAGCAGCAG	CAGCAGCAG	-													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs145170448|rs62639301	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	CAGCAGCAG	CAGCAGCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:2039777_2039785delCAGCAGCAG	ENST00000382203.1	+	4	876_884	c.667_675delCAGCAGCAG	c.(667-675)cagcagcagdel	p.QQQ235del	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.QQQ235del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.QQQ235del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.QQQ235del|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				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)		gcagcagcaacagcagcagcagcagcagc	0.622																																					p.222_225del		Atlas-Indel	.											SMARCA2_ENST00000349721,NS,carcinoma,0,2	SMARCA2	313	2	0			c.666_674del						PASS	.																																			SO:0001651	inframe_deletion	6595	exon4			.	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.667_675delCAGCAGCAG	9.37:g.2039786_2039794delCAGCAGCAG	ENSP00000371638:p.Gln235_Gln237del	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	93	13	0.139785	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	CCDS34977.1																																																																																			.	.	alt		0.622	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		-	2039785	CAGCAGCAG	-	2039777	7	5	24	1	0	1	0	1	0	0	0	0	14769	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAGCAGCAG	TCGA-GR-A4D4-01A-11D-A31X-10		2039777	139173654	75	21397										
IFNA4	3441	hgsc.bcm.edu	37	chr9	21187406	21187406	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gagagattcttcccatttgtGccaggagtatcaaggccctc	10	11	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:21187406G>C	ENST00000421715.1	-	1	192	c.125C>G	c.(124-126)gCa>gGa	p.A42G		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	42					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.A42V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCCATTTGTGCCAGGAGTAT	0.527																																					p.A42G	NSCLC(154;890 1986 23660 27800 51138)	Atlas-SNP	.											IFNA4,colon,carcinoma,0,1	IFNA4	34	1	1	Substitution - Missense(1)	large_intestine(1)	c.C125G						scavenged	.						66	68	67					9																	21187406		2203	4297	6500	SO:0001583	missense	3441	exon1			ATTTGTGCCAGGA		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.125C>G	9.37:g.21187406G>C	ENSP00000412897:p.Ala42Gly	Somatic	319	9	0.0282132		WXS	Illumina HiSeq	Phase_I	294	9	0.0306122	NM_021068	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	2.298	-0.360747	0.05103	.	.	ENSG00000236637	ENST00000421715	T	0.05139	3.49	2.96	-0.327	0.12694	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.03011	0.0089	N	0.12746	0.255	0.20074	N	0.999933	B	0.02656	0.0	B	0.08055	0.003	T	0.48502	-0.9030	10	0.11182	T	0.66	.	7.4808	0.27404	0.0:0.2404:0.6315:0.128	.	42	P05014	IFNA4_HUMAN	G	42	ENSP00000412897:A42G	ENSP00000412897:A42G	A	-	2	0	IFNA4	21177406	0.000000	0.05858	0.994000	0.49952	0.367000	0.29736	-2.206000	0.01231	0.060000	0.16281	0.485000	0.47835	GCA	.	.	none		0.527	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		C	21187406	G	C	21187406	3	2	24	1	0	0	0	0	1	0	0	0	7539	1319	46	4	448	4	IFNA4	9	21187406	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	19147629	21187406	120026025	76	21398										
TEK	7010	hgsc.bcm.edu	37	chr9	27204915	27204915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gtcttcctgcacagcaccagCggacctcggaggggggaaga	15	12	1	1	rs561507573		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:27204915C>T	ENST00000380036.4	+	14	2658	c.2216C>T	c.(2215-2217)gCg>gTg	p.A739V	TEK_ENST00000406359.4_Missense_Mutation_p.A696V|TEK_ENST00000519097.1_Missense_Mutation_p.A592V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	739					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACAGCACCAGCGGACCTCGGA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18299	0.0		0.0	False		,,,				2504	0.0				p.A739V		Atlas-SNP	.											.	TEK	250	.	0			c.C2216T						PASS	.						131	120	124					9																	27204915		2203	4300	6503	SO:0001583	missense	7010	exon14			CACCAGCGGACCT	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2216C>T	9.37:g.27204915C>T	ENSP00000369375:p.Ala739Val	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	57	17	0.298246	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385178	0.25031	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.74632	-0.83;-0.85;-0.86	6.02	0.534	0.17127	Fibronectin, type III (1);	1.391580	0.04700	N	0.415659	T	0.56046	0.1959	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.24426	0.0;0.054;0.0;0.103	B;B;B;B	0.20577	0.0;0.03;0.0;0.01	T	0.38265	-0.9669	10	0.27082	T	0.32	.	1.3342	0.02141	0.4257:0.2524:0.1303:0.1916	.	592;772;696;739	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	V	592;739;696	ENSP00000430686:A592V;ENSP00000369375:A739V;ENSP00000383977:A696V	ENSP00000369375:A739V	A	+	2	0	TEK	27194915	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.246000	0.08878	0.351000	0.24027	-0.311000	0.09066	GCG	.	.	none		0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27204915	C	T	27204915	3	4	24	1	0	0	0	0	1	0	0	0	15748	768	27	1	2270	1	TEK	9	27204915	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	6017509	27204915	114008516	77	21399										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797828	33797828	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgcctgccctgcccatcagcCgcatccaggtgagactggga	12	15	1	1	rs143209949		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:33797828C>T	ENST00000361005.5	+	3	373	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PRSS3_ENST00000342836.4_Splice_Site_p.R82C|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Splice_Site_p.R61C|PRSS3_ENST00000379405.3_Splice_Site_p.R68C	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCCATCAGCCGCATCCAGGT	0.577													c|||	1	0.000199681	0.0	0.0	5008	,	,		21123	0.0		0.001	False		,,,				2504	0.0				p.R125C		Atlas-SNP	.											PRSS3_ENST00000361005,NS,carcinoma,-1,2	PRSS3	79	2	0			c.C373T						scavenged	.						106	97	100					9																	33797828		2203	4300	6503	SO:0001630	splice_region_variant	5646	exon3			ATCAGCCGCATCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.372-1C>T	9.37:g.33797828C>T		Somatic	111	6	0.0540541		WXS	Illumina HiSeq	Phase_I	110	9	0.0818182	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045597	0.36085	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	3.38	2.48	0.30137	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	D	0.000021	D	0.89729	0.6799	L	0.55213	1.73	0.51233	D	0.999918	D;D;D	0.76494	0.986;0.999;0.986	P;P;P	0.62885	0.765;0.908;0.701	D	0.87067	0.2157	10	0.66056	D	0.02	.	4.6046	0.12371	0.214:0.6633:0.0:0.1227	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	C	125;80;82;61;68	ENSP00000354280:R125C;ENSP00000401249:R80C;ENSP00000340889:R82C;ENSP00000401828:R61C;ENSP00000368715:R68C	ENSP00000340889:R82C	R	+	1	0	PRSS3	33787828	0.896000	0.30565	0.865000	0.33974	0.073000	0.16967	1.513000	0.35823	0.551000	0.29008	-0.643000	0.03959	CGC	C|0.999;T|0.001	0.001	strong		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Missense_Mutation	T	33797828	C	T	33797828	5	4	24	1	0	0	0	0	0	0	1	0	12622	666	23	1	427	1	PRSS3	9	33797828	Splice_Site	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	6592913	33797828	107415603	78	21400										
PTCH1	5727	hgsc.bcm.edu	37	chr9	98241333	98241333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	atggctgccgctttgtcctcGttccagttgatgtgtgagac	12	10	0	2	rs201602238		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:98241333G>C	ENST00000331920.6	-	8	1463	c.1164C>G	c.(1162-1164)aaC>aaG	p.N388K	PTCH1_ENST00000418258.1_Missense_Mutation_p.N237K|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000430669.2_Missense_Mutation_p.N322K|PTCH1_ENST00000437951.1_Missense_Mutation_p.N322K|PTCH1_ENST00000375274.2_Missense_Mutation_p.N387K|PTCH1_ENST00000421141.1_Missense_Mutation_p.N237K|PTCH1_ENST00000429896.2_Missense_Mutation_p.N237K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	388					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTTGTCCTCGTTCCAGTTGA	0.537																																					p.N388K		Atlas-SNP	.											.	PTCH1	1850	.	0			c.C1164G						PASS	.						173	128	143					9																	98241333		2203	4300	6503	SO:0001583	missense	5727	exon8			GTCCTCGTTCCAG	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1164C>G	9.37:g.98241333G>C	ENSP00000332353:p.Asn388Lys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	105	30	0.285714	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652082	0.67472	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90955	-2.7;-2.69;-2.68;-2.68;-2.69;-2.68;-2.7;-2.76	6.17	-9.99	0.00435	.	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	M	0.68593	2.085	0.37604	D	0.920694	D;D;D;D	0.56746	0.976;0.971;0.976;0.977	P;P;P;P	0.61533	0.89;0.875;0.875;0.889	D	0.92850	0.6296	10	0.45353	T	0.12	-28.9913	22.0603	0.99966	0.7933:0.0:0.2067:0.0	.	237;322;387;388	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	K	388;322;237;237;322;237;387;105	ENSP00000332353:N388K;ENSP00000389744:N322K;ENSP00000399981:N237K;ENSP00000396135:N237K;ENSP00000410287:N322K;ENSP00000414823:N237K;ENSP00000364423:N387K;ENSP00000364420:N105K	ENSP00000332353:N388K	N	-	3	2	PTCH1	97281154	0.001000	0.12720	0.416000	0.26546	0.846000	0.48090	-1.360000	0.02600	-2.160000	0.00786	-0.940000	0.02684	AAC	G|1.000;A|0.000	.	alt		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		C	98241333	G	C	98241333	3	2	24	1	0	0	0	0	1	0	0	0	12730	1136	40	4	3243	4	PTCH1	9	98241333	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	64443505	98241333	42972098	79	21401										
STRBP	55342	hgsc.bcm.edu	37	chr9	125923280	125923280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aaccatttggcatgtcgaagAgacgccaaggcgttcaggca	12	10	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:125923280A>G	ENST00000348403.5	-	7	1032	c.603T>C	c.(601-603)tcT>tcC	p.S201S	STRBP_ENST00000447404.2_Silent_p.S201S|STRBP_ENST00000360998.3_Silent_p.S187S	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	201	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATGTCGAAGAGACGCCAAGG	0.388																																					p.S201S		Atlas-SNP	.											.	STRBP	73	.	0			c.T603C						PASS	.						46	44	45					9																	125923280		2203	4300	6503	SO:0001819	synonymous_variant	55342	exon7			TCGAAGAGACGCC	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.603T>C	9.37:g.125923280A>G		Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	318	95	0.298742	NM_018387	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	CCDS6851.1																																																																																			.	.	none		0.388	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			G	125923280	A	G	125923280	2	3	24	1	0	0	0	0	0	0	0	1	15326	291	11	3		3	STRBP	9	125923280	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	27681947	125923280	15290151	80	21402										
FAM73B	84895	hgsc.bcm.edu	37	chr9	131821550	131821550	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acagcatgctgctagacctcGgtgagctgggcccagtgcag	14	12	0	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr9:131821550G>A	ENST00000358369.4	+	7	1019	c.793G>A	c.(793-795)Gag>Aag	p.E265K	FAM73B_ENST00000277475.5_Splice_Site_p.R305Q|FAM73B_ENST00000406926.2_Splice_Site_p.E265K	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	265					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCTAGACCTCGGTGAGCTGGG	0.642																																					p.E265K		Atlas-SNP	.											.	FAM73B	37	.	0			c.G793A						PASS	.						26	22	23					9																	131821550		2198	4297	6495	SO:0001630	splice_region_variant	84895	exon7			GACCTCGGTGAGC	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.793+1G>A	9.37:g.131821550G>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	20	0.277778	NM_032809	Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	CCDS6917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.009961|4.009961	0.75046|0.75046	.|.	.|.	ENSG00000148343|ENSG00000148343	ENST00000358369;ENST00000406926|ENST00000277475	T;T|T	0.23147|0.16597	1.92;1.92|2.33	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.052634|.	0.85682|.	D|.	0.000000|.	T|T	0.34193|0.34193	0.0889|0.0889	M|M	0.71581|0.71581	2.175|2.175	0.35587|0.35587	D|D	0.806755|0.806755	D;D|.	0.89917|.	1.0;0.982|.	D;P|.	0.83275|.	0.996;0.85|.	T|T	0.32402|0.32402	-0.9908|-0.9908	10|7	0.62326|0.23302	D|T	0.03|0.38	-27.6397|-27.6397	17.5609|17.5609	0.87906|0.87906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;265|.	B4DZP8;Q7L4E1|.	.;FA73B_HUMAN|.	K|Q	265|305	ENSP00000351138:E265K;ENSP00000384662:E265K|ENSP00000277475:R305Q	ENSP00000351138:E265K|ENSP00000277475:R305Q	E|R	+|+	1|2	0|0	FAM73B|FAM73B	130861371|130861371	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.122000|0.122000	0.20287|0.20287	9.238000|9.238000	0.95380|0.95380	2.376000|2.376000	0.81061|0.81061	0.491000|0.491000	0.48974|0.48974	GAG|CGA	.	.	none		0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809	Missense_Mutation	A	131821550	G	A	131821550	5	1	24	1	0	0	0	0	0	0	1	0	5618	1130	39	1	815	1	FAM73B	9	131821550	Splice_Site	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5898270	131821550	9391881	81	21403										
C10orf111	221060	hgsc.bcm.edu	37	chr10	15138568	15138568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gagctttaaaatgttattcgGccgcttcatcacttgtcccc	7	12	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr10:15138568G>A	ENST00000378207.3	-	2	529	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	86						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						ATGTTATTCGGCCGCTTCATC	0.512																																					p.P86S		Atlas-SNP	.											C10orf111,mouth,carcinoma,+2,1	C10orf111	11	1	0			c.C256T						scavenged	.						131	131	131					10																	15138568		2203	4300	6503	SO:0001583	missense	221060	exon2			TATTCGGCCGCTT	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.256C>T	10.37:g.15138568G>A	ENSP00000367449:p.Pro86Ser	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	199	4	0.0201005	NM_153244	B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	G	6.925	0.540424	0.13250	.	.	ENSG00000176236	ENST00000378207	T	0.56776	0.44	3.27	2.25	0.28309	.	.	.	.	.	T	0.28863	0.0716	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.20075	-1.0286	9	0.87932	D	0	.	4.0505	0.09793	0.2713:0.0:0.7287:0.0	.	86	Q8N326	CJ111_HUMAN	S	86	ENSP00000367449:P86S	ENSP00000367449:P86S	P	-	1	0	C10orf111	15178574	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.060000	0.11712	0.764000	0.33197	0.561000	0.74099	CCG	.	.	none		0.512	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		A	15138568	G	A	15138568	3	1	24	1	0	0	0	0	1	0	0	0	1583	1203	42	2	215	2	C10orf111	10	15138568	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		15138568	120396179	82	21404										
ZNF32	7580	hgsc.bcm.edu	37	chr10	44140097	44140097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctcctggcactcatagacccTttgtctcactccaggtgaat	7	14	2	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr10:44140097T>C	ENST00000395797.1	-	3	411	c.223A>G	c.(223-225)Agg>Ggg	p.R75G	ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.R75G|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	75					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(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TCATAGACCCTTTGTCTCACT	0.448																																					p.R75G		Atlas-SNP	.											ZNF32,bladder,carcinoma,+1,1	ZNF32	27	1	0			c.A223G						scavenged	.						142	140	140					10																	44140097		2203	4300	6503	SO:0001583	missense	7580	exon3			AGACCCTTTGTCT	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.223A>G	10.37:g.44140097T>C	ENSP00000379143:p.Arg75Gly	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_001005368	Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348668	0.41599	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07216	3.21;3.21	4.52	4.52	0.55395	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.269468	0.26485	N	0.024120	T	0.04952	0.0133	N	0.08118	0	0.41373	D	0.987501	B	0.06786	0.001	B	0.04013	0.001	T	0.30765	-0.9967	10	0.87932	D	0	-8.9246	10.5319	0.44981	0.0:0.0:0.0:1.0	.	75	P17041	ZNF32_HUMAN	G	75	ENSP00000363556:R75G;ENSP00000379143:R75G	ENSP00000363556:R75G	R	-	1	2	ZNF32	43460103	0.742000	0.28228	1.000000	0.80357	0.598000	0.36846	1.493000	0.35605	2.256000	0.74724	0.533000	0.62120	AGG	.	.	none		0.448	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		C	44140097	T	C	44140097	3	2	24	1	0	0	0	0	1	0	0	0	17835	1608	56	3	602	3	ZNF32	10	44140097	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	29001529	44140097	91394650	83	21405										
FAS	355	hgsc.bcm.edu	37	chr10	90770574	90770574	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	attccactaattgtttggggTaagttcttgctttgttcaaa	8	6	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr10:90770574T>A	ENST00000355279.2	+	6	568		c.e6+2		FAS_ENST00000357339.2_Intron|FAS_ENST00000355740.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site|FAS_ENST00000352159.4_Splice_Site			P49327	FAS_HUMAN	Fas cell surface death receptor						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TTGTTTGGGGTAAGTTCTTGC	0.368																																					.		Atlas-SNP	.											.	FAS	47	.	0			c.568+2T>A						PASS	.						248	222	231					10																	90770574		2203	4300	6503	SO:0001630	splice_region_variant	355	exon6			TTGGGGTAAGTTC	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.568+2T>A	10.37:g.90770574T>A		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	92	35	0.380435	NM_152872	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000355279.2	37	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530798	0.27387	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000355279;ENST00000371875	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4431	0.38681	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAS	90760554	0.996000	0.38824	0.241000	0.24154	0.039000	0.13416	1.607000	0.36836	2.012000	0.59069	0.528000	0.53228	.	.	.	none		0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2		Intron	A	90770574	T	A	90770574	5	1	24	1	0	0	0	0	0	0	1	0	5681	1652	57	5	592	5	FAS	10	90770574	Splice_Site	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	46630477	90770574	44764173	84	21406										
MUC2	4583	hgsc.bcm.edu	37	chr11	1093342	1093342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccggcacacagaccccaaccCcgacacccatctccaccacc	4	24	1	1	rs55695633		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:1093342C>A	ENST00000441003.2	+	30	5188	c.5161C>A	c.(5161-5163)Ccg>Acg	p.P1721T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P9T|MUC2_ENST00000359061.5_Missense_Mutation_p.P1688T	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)	gaccccaaccccgacacccat	0.642																																					p.P1721T		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,-2,2	MUC2	614	2	0			c.C5161A						scavenged	.						234	273	260					11																	1093342		1973	3751	5724	SO:0001583	missense	4583	exon30			CCAACCCCGACAC	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.5161C>A	11.37:g.1093342C>A	ENSP00000415183:p.Pro1721Thr	Somatic	68	2	0.0294118		WXS	Illumina HiSeq	Phase_I	74	9	0.121622	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.758	0.324335	0.10900	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.04917	3.53;3.69;3.76	1.4	0.392	0.16288	.	2.679550	0.04278	N	0.343350	T	0.06325	0.0163	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.87932	D	0	.	6.4437	0.21865	0.291:0.709:0.0:0.0	.	1721	E7EUV1	.	T	1721;1688;9	ENSP00000415183:P1721T;ENSP00000351956:P1688T;ENSP00000331373:P9T	ENSP00000331373:P9T	P	+	1	0	MUC2	1083342	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.316000	0.01123	-0.071000	0.12886	-1.119000	0.02030	CCG	.	.	alt		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093342	C	A	1093342	3	1	24	1	0	0	0	0	1	0	0	0	9975	623	22	4	5279	4	MUC2	11	1093342	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		1093342	133913174	85	21407										
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643254	1643254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcccccacagccagagccacAgcccccacagccggagccac	9	22	0	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:1643254A>G	ENST00000399682.1	-	1	114	c.70T>C	c.(70-72)Tgt>Cgt	p.C24R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccagagccacagcccccacag	0.687																																					p.C24R		Atlas-SNP	.											KRTAP5-4,NS,carcinoma,+2,6	KRTAP5-4	78	6	0			c.T70C						scavenged	.						4	8	7					11																	1643254		641	1519	2160	SO:0001583	missense	387267	exon1			AGCCACAGCCCCC	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.70T>C	11.37:g.1643254A>G	ENSP00000382590:p.Cys24Arg	Somatic	155	7	0.0451613		WXS	Illumina HiSeq	Phase_I	182	15	0.0824176	NM_001012709		Missense_Mutation	SNP	ENST00000399682.1	37		.	.	.	.	.	.	.	.	.	.	A	7.309	0.614523	0.14129	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01099	5.34	2.15	2.15	0.27550	.	.	.	.	.	T	0.06234	0.0161	M	0.87971	2.92	0.49389	D	0.999781	D	0.59357	0.985	D	0.70487	0.969	T	0.05273	-1.0895	9	0.56958	D	0.05	.	8.2253	0.31564	1.0:0.0:0.0:0.0	.	24	Q6L8H1	KRA54_HUMAN	R	24	ENSP00000382590:C24R	ENSP00000331603:C24R	C	-	1	0	KRTAP5-4	1599830	0.001000	0.12720	0.930000	0.37139	0.032000	0.12392	-0.060000	0.11712	1.242000	0.43836	0.367000	0.22151	TGT	.	.	none		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		G	1643254	A	G	1643254	3	3	24	1	0	0	0	0	1	0	0	0	8563	188	7	3	620	3	KRTAP5-4	11	1643254	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	549912	1643254	133363262	86	21408										
ART5	116969	hgsc.bcm.edu	37	chr11	3661044	3661044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcctgtataggggccccaaaGcaagttgttagagagaagag	14	7	0	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:3661044G>A	ENST00000397068.3	-	2	1007	c.615C>T	c.(613-615)tgC>tgT	p.C205C	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Silent_p.C205C|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	205					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCCCCAAAGCAAGTTGTTA	0.542																																					p.C205C		Atlas-SNP	.											.	ART5	38	.	0			c.C615T						PASS	.						74	87	82					11																	3661044		2201	4298	6499	SO:0001819	synonymous_variant	116969	exon2			CCCAAAGCAAGTT	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.615C>T	11.37:g.3661044G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	94	28	0.297872	NM_053017	C9IYG7|Q6UX84|Q86W02	Silent	SNP	ENST00000397068.3	37	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	G	8.700	0.909544	0.17833	.	.	ENSG00000167311	ENST00000453353	.	.	.	6.17	1.32	0.21799	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53380	-0.8447	4	.	.	.	-28.2147	10.4319	0.44413	0.3324:0.0:0.6676:0.0	.	.	.	.	F	162	.	.	L	-	1	0	ART5	3617620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.992000	0.40737	0.351000	0.24027	0.655000	0.94253	CTT	.	.	none		0.542	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		A	3661044	G	A	3661044	2	1	24	1	0	0	0	0	0	0	0	1	1000	963	34	2		2	ART5	11	3661044	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	2017790	3661044	131345472	87	21409										
ACCS	84680	hgsc.bcm.edu	37	chr11	44092850	44092850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gagaacaaactctgctttgaCctgctgtcctggcgggtaag	12	10	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:44092850C>T	ENST00000263776.8	+	3	767	c.333C>T	c.(331-333)gaC>gaT	p.D111D	CTD-2609K8.3_ENST00000531268.1_RNA|ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.D111D	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	111					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGCTTTGACCTGCTGTCCT	0.577																																					p.D111D	Esophageal Squamous(158;148 1889 8077 23160 41213)	Atlas-SNP	.											.	ACCS	64	.	0			c.C333T						PASS	.						126	116	119					11																	44092850		2203	4300	6503	SO:0001819	synonymous_variant	84680	exon3			CTTTGACCTGCTG	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.333C>T	11.37:g.44092850C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	87	18	0.206897	NM_032592	B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	CCDS7907.1																																																																																			.	.	none		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		T	44092850	C	T	44092850	2	4	24	1	0	0	0	0	0	0	0	1	133	506	18	2		2	ACCS	11	44092850	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	40431806	44092850	90913666	88	21410										
DGKZ	8525	hgsc.bcm.edu	37	chr11	46397091	46397091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggatggcgagccctgcaagcTtgcagcctcacgcatccgca	12	15	1	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:46397091T>G	ENST00000454345.1	+	21	2509	c.2384T>G	c.(2383-2385)cTt>cGt	p.L795R	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000456247.2_Missense_Mutation_p.L606R|DGKZ_ENST00000395574.3_Missense_Mutation_p.L573R|DGKZ_ENST00000527911.1_Missense_Mutation_p.L607R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.L623R|DGKZ_ENST00000421244.2_Missense_Mutation_p.L607R|DGKZ_ENST00000528615.1_Missense_Mutation_p.L385R|DGKZ_ENST00000318201.8_Missense_Mutation_p.L584R|DGKZ_ENST00000532868.2_Missense_Mutation_p.L611R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	795					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCTGCAAGCTTGCAGCCTCA	0.692																																					p.L795R		Atlas-SNP	.											.	DGKZ	199	.	0			c.T2384G						PASS	.						30	31	31					11																	46397091		2192	4294	6486	SO:0001583	missense	8525	exon21			GCAAGCTTGCAGC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2384T>G	11.37:g.46397091T>G	ENSP00000412178:p.Leu795Arg	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	76	21	0.276316	NM_001105540	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.618080|4.618080	0.87359|0.87359	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	T;T;T;T;T;T;T;T;T|T	0.27557|0.45276	2.24;2.45;2.44;2.5;3.42;2.25;2.32;2.44;1.66|0.9	4.19|4.19	4.19|4.19	0.49359|0.49359	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.55481|0.55481	0.1923|0.1923	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.85130|.	0.996;0.987;0.993;0.996;0.996;0.997;0.997;0.992;0.996|.	T|T	0.55774|0.55774	-0.8088|-0.8088	10|8	0.87932|0.36615	D|T	0|0.2	.|.	13.7246|13.7246	0.62750|0.62750	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	584;572;550;607;795;606;607;573;623|.	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7|.	.;.;.;.;DGKZ_HUMAN;.;.;.;.|.	R|V	623;385;573;572;607;606;607;584;795|162	ENSP00000343065:L623R;ENSP00000434719:L385R;ENSP00000378941:L573R;ENSP00000436273:L572R;ENSP00000436291:L607R;ENSP00000395684:L606R;ENSP00000391021:L607R;ENSP00000320340:L584R;ENSP00000412178:L795R|ENSP00000434016:L162V	ENSP00000320340:L584R|ENSP00000434016:L162V	L|L	+|+	2|1	0|2	DGKZ|DGKZ	46353667|46353667	1.000000|1.000000	0.71417|0.71417	0.834000|0.834000	0.33040|0.33040	0.929000|0.929000	0.56500|0.56500	7.581000|7.581000	0.82535|0.82535	1.904000|1.904000	0.55121|0.55121	0.379000|0.379000	0.24179|0.24179	CTT|TTG	.	.	none		0.692	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		G	46397091	T	G	46397091	3	3	24	1	0	0	0	0	1	0	0	0	4474	1609	56	5	2909	5	DGKZ	11	46397091	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	2304241	46397091	88609425	89	21411										
TMEM132A	54972	hgsc.bcm.edu	37	chr11	60701987	60701987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gaacccgctgcagaggcgtcGgatgaggccgagcggcgcgc	18	13	0	2	rs7715	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		Atlas-SNP	.											.	TMEM132A	135	.	0			c.G1590A						PASS	.	A	,	942,1508		213,516,496	2	2	2		1590,1587	-7.2	0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	7	5	0.714286	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.582;A|0.418	0.418	strong		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		A	60701987	G	A	60701987	2	1	24	1	0	0	0	0	0	0	0	1	16042	1103	39	1		1	TMEM132A	11	60701987	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	14304896	60701987	74304529	90	21412										
BBS1	582	hgsc.bcm.edu	37	chr11	66294208	66294208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cccccaccagcccaggccatGaaactcaatgtgccccgaaa	7	18	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:66294208G>T	ENST00000318312.7	+	13	1320	c.1269G>T	c.(1267-1269)atG>atT	p.M423I	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.M326I|BBS1_ENST00000393994.2_Missense_Mutation_p.M294I|BBS1_ENST00000529766.1_3'UTR|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.M460I	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	423					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCCAGGCCATGAAACTCAATG	0.587									Bardet-Biedl syndrome																												p.M423I	GBM(152;173 2612 9770 10137)	Atlas-SNP	.											.	BBS1	58	.	0			c.G1269T						PASS	.						159	151	153					11																	66294208		2200	4295	6495	SO:0001583	missense	582	exon13	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	GGCCATGAAACTC	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1269G>T	11.37:g.66294208G>T	ENSP00000317469:p.Met423Ile	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	125	23	0.184	NM_024649	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	0.378	-0.930525	0.02359	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96300	-3.89;-3.97;-3.8;-3.7	4.69	-2.72	0.05968	.	.	.	.	.	T	0.78604	0.4309	N	0.00525	-1.395	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.002;0.0;0.001;0.0;0.001	T	0.75838	-0.3176	9	0.07175	T	0.84	.	0.5633	0.00683	0.354:0.1232:0.2725:0.2503	.	98;326;294;311;423;460	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	I	460;423;326;294	ENSP00000398526:M460I;ENSP00000317469:M423I;ENSP00000405764:M326I;ENSP00000377563:M294I	ENSP00000317469:M423I	M	+	3	0	BBS1;CTD-3074O7.11	66050784	0.001000	0.12720	0.002000	0.10522	0.787000	0.44495	-0.617000	0.05584	-0.634000	0.05538	-0.150000	0.13652	ATG	.	.	none		0.587	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			T	66294208	G	T	66294208	3	4	24	1	0	0	0	0	1	0	0	0	1335	1290	45	4	1319	4	BBS1	11	66294208	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5592221	66294208	68712308	91	21413										
INTS4	92105	hgsc.bcm.edu	37	chr11	77614592	77614592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctgaataagcttacctgtttCgctgctgctgaggccaaatc	9	11	0	2	rs565544206	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:77614592C>T	ENST00000534064.1	-	17	2125	c.2091G>A	c.(2089-2091)gcG>gcA	p.A697A	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.A72A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	697					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A697A(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTACCTGTTTCGCTGCTGCTG	0.483													C|||	7	0.00139776	0.0045	0.0	5008	,	,		22683	0.001		0.0	False		,,,				2504	0.0				p.A697A		Atlas-SNP	.											INTS4,NS,carcinoma,0,2	INTS4	89	2	1	Substitution - coding silent(1)	prostate(1)	c.G2091A						scavenged	.						63	54	57					11																	77614592		2200	4292	6492	SO:0001819	synonymous_variant	92105	exon17			CTGTTTCGCTGCT	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2091G>A	11.37:g.77614592C>T		Somatic	195	12	0.0615385		WXS	Illumina HiSeq	Phase_I	221	13	0.0588235	NM_033547	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																			.	.	weak		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		T	77614592	C	T	77614592	2	4	24	1	0	0	0	0	0	0	0	1	7780	871	31	1		1	INTS4	11	77614592	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	11320384	77614592	57391924	92	21414										
TRIM49	57093	hgsc.bcm.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttctcattctgattcttctcTttccgatacatattacagac	3	11	4	2	rs560492199	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0				p.K363K		Atlas-SNP	.											TRIM49,NS,carcinoma,0,3	TRIM49	45	3	3	Substitution - coding silent(3)	endometrium(2)|prostate(1)	c.A1089G						scavenged	.						74	79	77					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093	exon8			CTTCTCTTTCCGA	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C		Somatic	183	1	0.00546448		WXS	Illumina HiSeq	Phase_I	166	3	0.0180723	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	CCDS8287.1																																																																																			T|0.500;C|0.500	0.500	weak		0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		C	89531568	T	C	89531568	2	2	24	1	0	0	0	0	0	0	0	1	16521	1606	56	3		3	TRIM49	11	89531568	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	11916976	89531568	45474948	93	21415										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94602519	94602519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cagcacacagactgacaagaGtgccgagctcttctggccca	10	14	2	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:94602519G>A	ENST00000433060.2	+	12	2786	c.2645G>A	c.(2644-2646)aGt>aAt	p.S882N	AMOTL1_ENST00000317837.9_Missense_Mutation_p.S469N|AMOTL1_ENST00000317829.8_Missense_Mutation_p.S832N	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	882					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACTGACAAGAGTGCCGAGCTC	0.652																																					p.S882N		Atlas-SNP	.											.	AMOTL1	95	.	0			c.G2645A						PASS	.						36	46	43					11																	94602519		2173	4278	6451	SO:0001583	missense	154810	exon12			ACAAGAGTGCCGA	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2645G>A	11.37:g.94602519G>A	ENSP00000387739:p.Ser882Asn	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	87	25	0.287356	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187928	0.38609	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.19669	2.15;2.34;2.13	5.48	4.56	0.56223	.	0.181464	0.49916	D	0.000126	T	0.20618	0.0496	L	0.54323	1.7	0.21020	N	0.999801	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.004	T	0.16012	-1.0417	10	0.20046	T	0.44	-6.9791	12.7542	0.57325	0.0:0.1248:0.7455:0.1297	.	832;882	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	N	832;469;882	ENSP00000320968:S832N;ENSP00000323474:S469N;ENSP00000387739:S882N	ENSP00000320968:S832N	S	+	2	0	AMOTL1	94242167	1.000000	0.71417	0.483000	0.27378	0.247000	0.25773	6.087000	0.71362	1.299000	0.44798	0.561000	0.74099	AGT	.	.	none		0.652	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94602519	G	A	94602519	3	1	24	1	0	0	0	0	1	0	0	0	583	1029	36	2	2691	2	AMOTL1	11	94602519	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5070951	94602519	40403997	94	21416										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825368	95825368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgttgctgttgctgctgctgCtgctgttgctgctgctgctg	14	10	0	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:95825368C>T	ENST00000524717.1	-	2	3111	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	609					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)				gctgctgctgctgctgttgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q609Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,1	MAML2	94	1	0			c.G1827A						scavenged	.						32	38	36					11																	95825368		2030	3999	6029	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGCTGT	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.1827G>A	11.37:g.95825368C>T		Somatic	87	1	0.0114943		WXS	Illumina HiSeq	Phase_I	69	4	0.057971	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.	.	none		0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825368	C	T	95825368	2	4	24	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAML2	11	95825368	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	1222849	95825368	39181148	95	21417										
DYNC2H1	79659	hgsc.bcm.edu	37	chr11	103070165	103070165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gttttctccaaagatttccaGaggatatgaactgaagcagt	9	7	1	4			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:103070165G>C	ENST00000375735.2	+	49	8192	c.8048G>C	c.(8047-8049)aGa>aCa	p.R2683T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R2683T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2683	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAGATTTCCAGAGGATATGAA	0.403																																					p.R2683T		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.G8048C						PASS	.						85	78	80					11																	103070165		1882	4126	6008	SO:0001583	missense	79659	exon49			TTTCCAGAGGATA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8048G>C	11.37:g.103070165G>C	ENSP00000364887:p.Arg2683Thr	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	88	30	0.340909	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848139	0.91277	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.44083	0.93;0.93	6.17	6.17	0.99709	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000005	T	0.69242	0.3089	M	0.92649	3.33	0.80722	D	1	D;P	0.56287	0.975;0.86	P;P	0.53722	0.733;0.535	T	0.75966	-0.3131	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2683;2683	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	2683	ENSP00000364887:R2683T;ENSP00000381167:R2683T	ENSP00000364887:R2683T	R	+	2	0	DYNC2H1	102575375	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.766000	0.98957	2.941000	0.99782	0.655000	0.94253	AGA	.	.	none		0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		C	103070165	G	C	103070165	3	2	24	1	0	0	0	0	1	0	0	0	4846	942	33	4	8242	4	DYNC2H1	11	103070165	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	7244797	103070165	31936351	96	21418										
ATM	472	hgsc.bcm.edu	37	chr11	108202718	108202718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	accagaggtagccagaagaaGcagaataactaaaaatgtgc	10	7	0	4			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:108202718G>C	ENST00000452508.2	+	53	7931	c.7742G>C	c.(7741-7743)aGc>aCc	p.S2581T	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.S2581T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2581					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCCAGAAGAAGCAGAATAACT	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.S2581T		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM	1657	.	0			c.G7742C						PASS	.						88	87	87					11																	108202718		2201	4298	6499	SO:0001583	missense	472	exon52	Familial Cancer Database	AT, Louis-Bar syndrome	GAAGAAGCAGAAT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7742G>C	11.37:g.108202718G>C	ENSP00000388058:p.Ser2581Thr	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	30	0.258621	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	4.758	0.141006	0.09083	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.79141	-1.24;-1.24	5.18	3.26	0.37387	Armadillo-type fold (1);	0.434069	0.29040	N	0.013336	T	0.70979	0.3286	M	0.72894	2.215	0.80722	D	1	B	0.17667	0.023	B	0.15484	0.013	T	0.59941	-0.7359	10	0.15952	T	0.53	.	7.6319	0.28245	0.1605:0.1368:0.7027:0.0	.	2581	Q13315	ATM_HUMAN	T	2581	ENSP00000278616:S2581T;ENSP00000388058:S2581T	ENSP00000278616:S2581T	S	+	2	0	ATM	107707928	0.281000	0.24258	0.637000	0.29366	0.172000	0.22775	0.471000	0.22100	0.537000	0.28751	-0.282000	0.10007	AGC	.	.	none		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		C	108202718	G	C	108202718	3	2	24	1	0	0	0	0	1	0	0	0	1109	971	34	4	7944	4	ATM	11	108202718	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5132553	108202718	26803798	97	21419										
RNF214	257160	hgsc.bcm.edu	37	chr11	117109653	117109653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aagcagcttgcctccaggaaTtgctctgaagagaaatcccc	9	12	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr11:117109653T>C	ENST00000531452.1	+	3	490	c.444T>C	c.(442-444)aaT>aaC	p.N148N	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000300650.4_Silent_p.N148N|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	148							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCTCCAGGAATTGCTCTGAAG	0.537																																					p.N148N		Atlas-SNP	.											.	RNF214	54	.	0			c.T444C						PASS	.						55	58	57					11																	117109653		1953	4151	6104	SO:0001819	synonymous_variant	257160	exon3			CAGGAATTGCTCT	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.444T>C	11.37:g.117109653T>C		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	67	14	0.208955	NM_207343	B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	CCDS41720.1																																																																																			.	.	none		0.537	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		C	117109653	T	C	117109653	2	2	24	1	0	0	0	0	0	0	0	1	13478	1490	52	2		2	RNF214	11	117109653	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	8906935	117109653	17896863	98	21420										
ABCC9	10060	hgsc.bcm.edu	37	chr12	21998615	21998615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tagtctatagctacaatgacCgaatgcttcaaaagcttaga	7	8	2	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:21998615C>T	ENST00000261201.4	-	24	3017	c.3018G>A	c.(3016-3018)tcG>tcA	p.S1006S	ABCC9_ENST00000261200.4_Silent_p.S1006S|ABCC9_ENST00000345162.2_Silent_p.S970S|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTACAATGACCGAATGCTTCA	0.433																																					p.S1006S		Atlas-SNP	.											ABCC9,colon,carcinoma,-1,1	ABCC9	411	1	0			c.G3018A						PASS	.						118	103	108					12																	21998615		2203	4300	6503	SO:0001819	synonymous_variant	10060	exon24			AATGACCGAATGC	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3018G>A	12.37:g.21998615C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	47	17	0.361702	NM_005691	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																			.	.	none		0.433	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21998615	C	T	21998615	2	4	24	1	0	0	0	0	0	0	0	1	59	639	23	1		1	ABCC9	12	21998615	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		21998615	111853280	99	21421										
CS	1431	hgsc.bcm.edu	37	chr12	56676685	56676685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tccagttaccagcagccaaaAtaagccctcaggcaggggtt	10	12	1	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:56676685A>C	ENST00000351328.3	-	5	548	c.358T>G	c.(358-360)Ttt>Gtt	p.F120V	CS_ENST00000542324.2_Missense_Mutation_p.F107V|CS_ENST00000548567.1_Missense_Mutation_p.F54V	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	120					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AGCAGCCAAAATAAGCCCTCA	0.483																																					p.F120V		Atlas-SNP	.											.	CS	44	.	0			c.T358G						PASS	.						109	111	110					12																	56676685		2203	4300	6503	SO:0001583	missense	1431	exon5			GCCAAAATAAGCC		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.358T>G	12.37:g.56676685A>C	ENSP00000342056:p.Phe120Val	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	83	23	0.277108	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.920811	0.92249	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000548041;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554;ENST00000551473;ENST00000547298;ENST00000551137;ENST00000550655;ENST00000551968;ENST00000550159;ENST00000551430	.	.	.	4.61	4.61	0.57282	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	H	0.95187	3.635	0.80722	D	1	P;P;P;P	0.51057	0.892;0.941;0.941;0.941	P;P;P;P	0.60682	0.783;0.809;0.752;0.878	D	0.89441	0.3723	9	0.87932	D	0	-12.2063	13.7141	0.62687	1.0:0.0:0.0:0.0	.	54;107;75;120	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	V	54;120;107;45;120;54;54;54;84;70;54;54;54;120;92;54;54	.	ENSP00000342056:F120V	F	-	1	0	CS	54962952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.542000	0.90647	2.023000	0.59567	0.528000	0.53228	TTT	.	.	none		0.483	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		C	56676685	A	C	56676685	3	2	24	1	0	0	0	0	1	0	0	0	3924	101	4	5	1070	5	CS	12	56676685	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	34678070	56676685	77175210	100	21422										
CS	1431	hgsc.bcm.edu	37	chr12	56676766	56676766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agggatactaaagcctcggaAacggatgcccttgagagagg	14	8	0	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:56676766A>C	ENST00000351328.3	-	5	467	c.277T>G	c.(277-279)Ttc>Gtc	p.F93V	CS_ENST00000542324.2_Missense_Mutation_p.F80V|CS_ENST00000548567.1_Missense_Mutation_p.F27V	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	93					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AAGCCTCGGAAACGGATGCCC	0.483																																					p.F93V		Atlas-SNP	.											.	CS	44	.	0			c.T277G						PASS	.						75	79	78					12																	56676766		2203	4300	6503	SO:0001583	missense	1431	exon5			CTCGGAAACGGAT		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.277T>G	12.37:g.56676766A>C	ENSP00000342056:p.Phe93Val	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	55	16	0.290909	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719196	0.89205	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000548041;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000551473;ENST00000547298;ENST00000551137;ENST00000550655;ENST00000550159;ENST00000551430	.	.	.	4.55	4.55	0.56014	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.997;0.999	D;D;D;D	0.79108	0.987;0.992;0.986;0.992	D	0.91554	0.5259	9	0.87932	D	0	-14.8489	13.594	0.61978	1.0:0.0:0.0:0.0	.	27;80;48;93	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	V	27;93;80;18;93;27;27;27;57;27;27;27;93;27;27	.	ENSP00000342056:F93V	F	-	1	0	CS	54963033	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.639000	0.91023	1.995000	0.58328	0.528000	0.53228	TTC	.	.	none		0.483	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		C	56676766	A	C	56676766	3	2	24	1	0	0	0	0	1	0	0	0	3924	14	1	5	1151	5	CS	12	56676766	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	81	56676766	77175129	101	21423										
STAB2	55576	hgsc.bcm.edu	37	chr12	104071379	104071379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgcatcctgtttgtatgtggGtcccgggcaggtaggttgga	16	8	0	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:104071379G>A	ENST00000388887.2	+	25	2999	c.2795G>A	c.(2794-2796)gGt>gAt	p.G932D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGTATGTGGGTCCCGGGCAG	0.547																																					p.G932D		Atlas-SNP	.											.	STAB2	370	.	0			c.G2795A						PASS	.						83	81	82					12																	104071379		2203	4300	6503	SO:0001583	missense	55576	exon25			ATGTGGGTCCCGG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2795G>A	12.37:g.104071379G>A	ENSP00000373539:p.Gly932Asp	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	60	9	0.15	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638706	0.67130	.	.	ENSG00000136011	ENST00000388887	T	0.64438	-0.1	5.55	5.55	0.83447	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.78916	2.43	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.78365	-0.2232	10	0.37606	T	0.19	.	18.2638	0.90044	0.0:0.0:1.0:0.0	.	932	Q8WWQ8	STAB2_HUMAN	D	932	ENSP00000373539:G932D	ENSP00000373539:G932D	G	+	2	0	STAB2	102595509	1.000000	0.71417	0.996000	0.52242	0.194000	0.23727	8.757000	0.91657	2.623000	0.88846	0.563000	0.77884	GGT	.	.	none		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104071379	G	A	104071379	3	1	24	1	0	0	0	0	1	0	0	0	15237	1261	44	2	2893	2	STAB2	12	104071379	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	47394613	104071379	29780516	102	21424										
TMEM119	338773	hgsc.bcm.edu	37	chr12	108986031	108986031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gaggccgacgagccctcggcCtccccactacccgccacatc	9	21	0	0	rs74504010	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:108986031C>T	ENST00000392806.3	-	2	297	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	43					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGCCCTCGGCCTCCCCACTAC	0.706													C|||	832	0.166134	0.0053	0.1297	5008	,	,		11135	0.3145		0.164	False		,,,				2504	0.2587				p.E43E		Atlas-SNP	.											TMEM119,NS,carcinoma,0,1	TMEM119	31	1	0			c.G129A						scavenged	.	C		156,4214		6,144,2035	8	11	10		129	0.4	1	12	dbSNP_131	10	1399,7135		129,1141,2997	no	coding-synonymous	TMEM119	NM_181724.2		135,1285,5032	TT,TC,CC		16.3933,3.5698,12.0505		43/284	108986031	1555,11349	2185	4267	6452	SO:0001819	synonymous_variant	338773	exon2			CTCGGCCTCCCCA	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.129G>A	12.37:g.108986031C>T		Somatic	28	12	0.428571		WXS	Illumina HiSeq	Phase_I	34	16	0.470588	NM_181724	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			C|0.827;T|0.173	0.173	strong		0.706	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		T	108986031	C	T	108986031	2	4	24	1	0	0	0	0	0	0	0	1	16029	680	24	2		2	TMEM119	12	108986031	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	4914652	108986031	24865864	103	21425										
MED13L	23389	hgsc.bcm.edu	37	chr12	116408551	116408551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tcagtgcagtacttcggccaAaaacagagcccattgtgaca	9	11	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr12:116408551A>C	ENST00000281928.3	-	27	6121	c.5915T>G	c.(5914-5916)tTt>tGt	p.F1972C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1972						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTTCGGCCAAAAACAGAGCC	0.423																																					p.F1972C		Atlas-SNP	.											.	MED13L	193	.	0			c.T5915G						PASS	.						108	91	97					12																	116408551		2203	4300	6503	SO:0001583	missense	23389	exon27			CGGCCAAAAACAG	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5915T>G	12.37:g.116408551A>C	ENSP00000281928:p.Phe1972Cys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	94	14	0.148936	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.606136|4.606136	0.87157|0.87157	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	D|.	0.84370|.	-1.84|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79112|0.79112	0.4391|0.4391	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.81389|0.81389	-0.0955|-0.0955	10|6	0.72032|.	D|.	0.01|.	.|.	15.8583|15.8583	0.79000|0.79000	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1972|.	Q71F56|.	MD13L_HUMAN|.	C|L	1972|176	ENSP00000281928:F1972C|.	ENSP00000281928:F1972C|.	F|F	-|-	2|3	0|2	MED13L|MED13L	114892934|114892934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.761000|8.761000	0.91691|0.91691	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TTT|TTT	.	.	none		0.423	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			C	116408551	A	C	116408551	3	2	24	1	0	0	0	0	1	0	0	0	9431	14	1	5	737	5	MED13L	12	116408551	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	7422520	116408551	17443344	104	21426										
CENPJ	55835	hgsc.bcm.edu	37	chr13	25479846	25479846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aggatctcgagggctcagacActttatgttttatgctttcc	9	9	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr13:25479846A>G	ENST00000381884.4	-	7	2515	c.2330T>C	c.(2329-2331)gTg>gCg	p.V777A	CENPJ_ENST00000545981.1_Missense_Mutation_p.V777A	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	777					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGGCTCAGACACTTTATGTTT	0.393																																					p.V777A		Atlas-SNP	.											.	CENPJ	116	.	0			c.T2330C						PASS	.						175	167	170					13																	25479846		2203	4300	6503	SO:0001583	missense	55835	exon7			TCAGACACTTTAT	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2330T>C	13.37:g.25479846A>G	ENSP00000371308:p.Val777Ala	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	50	23	0.46	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	A	0.113	-1.135609	0.01742	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.35236	1.32;1.91	5.53	-11.1	0.00147	.	0.821166	0.10737	N	0.639900	T	0.12944	0.0314	L	0.35288	1.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33701	-0.9858	10	0.07482	T	0.82	.	0.2461	0.00199	0.2284:0.2381:0.2221:0.3114	.	777	Q9HC77	CENPJ_HUMAN	A	777	ENSP00000371308:V777A;ENSP00000441090:V777A	ENSP00000371308:V777A	V	-	2	0	CENPJ	24377846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.506000	0.06359	-2.029000	0.00930	-2.802000	0.00113	GTG	.	.	none		0.393	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		G	25479846	A	G	25479846	3	3	24	1	0	0	0	0	1	0	0	0	3234	159	6	2	1730	2	CENPJ	13	25479846	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10		25479846	89690032	105	21427										
CARS2	79587	hgsc.bcm.edu	37	chr13	111340323	111340323	+	Missense_Mutation	SNP	C	C	A													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgccatgtcctgcttgaagtCttcctcataaagactggcga							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr13:111340323C>A	ENST00000257347.4	-	4	499	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	146					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGCTTGAAGTCTTCCTCATAA	0.532																																					p.D146Y		Atlas-SNP	.											.	CARS2	37	.	0			c.G436T						PASS	.						79	69	72					13																	111340323		2203	4300	6503	SO:0001583	missense	79587	exon4			TGAAGTCTTCCTC	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.436G>T	13.37:g.111340323C>A	ENSP00000257347:p.Asp146Tyr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	55	16	0.290909	NM_024537	Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015505	0.35511	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.31247	1.5	4.71	3.86	0.44501	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.322809	0.31834	N	0.006995	T	0.44808	0.1311	L	0.51914	1.62	0.39637	D	0.970261	D	0.55385	0.971	P	0.62491	0.903	T	0.41342	-0.9514	10	0.49607	T	0.09	-3.3731	12.2493	0.54589	0.0:0.9143:0.0:0.0857	.	146	Q9HA77	SYCM_HUMAN	Y	146;137	ENSP00000257347:D146Y	ENSP00000257347:D146Y	D	-	1	0	CARS2	110138324	1.000000	0.71417	0.749000	0.31150	0.586000	0.36452	4.335000	0.59298	1.086000	0.41228	0.557000	0.71058	GAC	.	.	none		0.532	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		A	111340323	C	A	111340323	3	1	24	1	0	0	0	0	1	0	0	0	2658	913	32	4	1306	4	CARS2	13	111340323	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	85860477	111340323	3829555	106	21428	427	2								
CARS2	79587	hgsc.bcm.edu	37	chr13	111340329	111340329	+	Missense_Mutation	SNP	C	C	T													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gtcctgcttgaagtcttcctCataaagactggcgagggaag							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr13:111340329C>T	ENST00000257347.4	-	4	493	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	144					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAGTCTTCCTCATAAAGACTG	0.532																																					p.E144K		Atlas-SNP	.											.	CARS2	37	.	0			c.G430A						PASS	.						75	66	69					13																	111340329		2203	4300	6503	SO:0001583	missense	79587	exon4			CTTCCTCATAAAG	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.430G>A	13.37:g.111340329C>T	ENSP00000257347:p.Glu144Lys	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	52	16	0.307692	NM_024537	Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831407	0.50845	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.35973	1.28	4.71	3.85	0.44370	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.89478	3.035	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.72301	-0.4334	10	0.62326	D	0.03	-30.7203	14.0156	0.64523	0.0:0.8467:0.1533:0.0	.	144	Q9HA77	SYCM_HUMAN	K	144;135	ENSP00000257347:E144K	ENSP00000257347:E144K	E	-	1	0	CARS2	110138330	1.000000	0.71417	0.472000	0.27241	0.023000	0.10783	5.937000	0.70162	1.073000	0.40885	-0.310000	0.09108	GAG	.	.	none		0.532	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		T	111340329	C	T	111340329	3	4	24	1	0	0	0	0	1	0	0	0	2658	835	29	2	1312	2	CARS2	13	111340329	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	6	111340329	3829549	107	21429	427	2								
CARS2	79587	hgsc.bcm.edu	37	chr13	111340366	111340366	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gaagcgggggaaatattcatCtgcagaaggattagatgtgc	14	5	2	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr13:111340366C>A	ENST00000257347.4	-	4	457		c.e4-1		CARS2_ENST00000535398.1_Splice_Site	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAATATTCATCTGCAGAAGGA	0.517																																					.		Atlas-SNP	.											.	CARS2	37	.	0			c.394-1G>T						PASS	.						54	50	52					13																	111340366		2203	4300	6503	SO:0001630	splice_region_variant	79587	exon5			ATTCATCTGCAGA	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.394-1G>T	13.37:g.111340366C>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_024537	Q8NI84|Q96IV4	Splice_Site	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679757	0.29783	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2901	0.87153	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CARS2	110138367	1.000000	0.71417	0.997000	0.53966	0.112000	0.19704	5.947000	0.70242	2.433000	0.82419	0.557000	0.71058	.	.	.	none		0.517	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537	Intron	A	111340366	C	A	111340366	5	1	24	1	0	0	0	0	0	0	1	0	2658	927	32	4	1349	4	CARS2	13	111340366	Splice_Site	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	37	111340366	3829512	108	21430										
ANKRD10	55608	hgsc.bcm.edu	37	chr13	111532094	111532094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gttcagttctgggatgctttCagcagtgtccccaaacccgt	10	12	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr13:111532094C>G	ENST00000267339.2	-	6	1287	c.1153G>C	c.(1153-1155)Gaa>Caa	p.E385Q	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	385								p.E385K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GGGATGCTTTCAGCAGTGTCC	0.567																																					p.E385Q		Atlas-SNP	.											ANKRD10,NS,carcinoma,0,1	ANKRD10	24	1	1	Substitution - Missense(1)	lung(1)	c.G1153C						PASS	.						152	107	122					13																	111532094		2203	4300	6503	SO:0001583	missense	55608	exon6			TGCTTTCAGCAGT	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"Ankyrin repeat domain containing"	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.1153G>C	13.37:g.111532094C>G	ENSP00000267339:p.Glu385Gln	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	35	19	0.542857	NM_017664	Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417175	0.62511	.	.	ENSG00000088448	ENST00000267339	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.053640	0.64402	D	0.000001	D	0.88388	0.6423	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89186	0.3547	10	0.87932	D	0	-17.5215	19.4338	0.94783	0.0:1.0:0.0:0.0	.	385	Q9NXR5	ANR10_HUMAN	Q	385	ENSP00000267339:E385Q	ENSP00000267339:E385Q	E	-	1	0	ANKRD10	110330095	1.000000	0.71417	0.259000	0.24435	0.152000	0.21847	5.793000	0.69060	2.598000	0.87819	0.650000	0.86243	GAA	.	.	none		0.567	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			G	111532094	C	G	111532094	3	3	24	1	0	0	0	0	1	0	0	0	638	835	29	4	113	4	ANKRD10	13	111532094	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	191728	111532094	3637784	109	21431										
CHD8	57680	hgsc.bcm.edu	37	chr14	21884030	21884031	+	Frame_Shift_Ins	INS	-	-	T													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	atatccaggtcctctgtataINStttttttcgcttaacttggc							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:21884030_21884031insT	ENST00000557364.1	-	6	2015_2016	c.1752_1753insA	c.(1750-1755)aaatatfs	p.Y585fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.Y585fs|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.Y306fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	585					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCTCTGTATATTTTTTTCGCT	0.396																																					p.Y585fs		Pindel,Atlas-Indel	.											.	CHD8	339	.	0			c.1753_1754insA						PASS	.																																			SO:0001589	frameshift_variant	57680	exon5			.	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1753dupA	14.37:g.21884037_21884037dupT	ENSP00000451601:p.Tyr585fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	22	22	1	NM_001170629	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	ENST00000557364.1	37	CCDS53885.1																																																																																			.	.	none		0.396	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21884031	-	T	21884030	7	5	24	1	0	1	1	0	0	0	0	0	3331	449	16	0	6124	0	CHD8	14	21884030	Frame_Shift_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10		21884030	85465510	110	21432										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55817618	55817618	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gtggaaaggatgagggaggtTaacagcaggtgctaccaacc	15	7	0	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:55817618T>G	ENST00000313833.4	+	2	755	c.510T>G	c.(508-510)gtT>gtG	p.V170V	FBXO34_ENST00000440021.1_Silent_p.V170V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	170										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TGAGGGAGGTTAACAGCAGGT	0.473																																					p.V170V		Atlas-SNP	.											.	FBXO34	61	.	0			c.T510G						PASS	.						88	75	79					14																	55817618		2203	4300	6503	SO:0001819	synonymous_variant	55030	exon2			GGAGGTTAACAGC	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.510T>G	14.37:g.55817618T>G		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	109	26	0.238532	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	CCDS32086.1																																																																																			.	.	none		0.473	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			G	55817618	T	G	55817618	2	3	24	1	0	0	0	0	0	0	0	1	5744	1741	61	5		5	FBXO34	14	55817618	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	33933588	55817618	51531922	111	21433										
SGPP1	81537	hgsc.bcm.edu	37	chr14	64165346	64165346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aactagagaacaccagcaggGaataagaatcagtccatata	8	8	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:64165346G>T	ENST00000247225.6	-	2	809	c.715C>A	c.(715-717)Ccc>Acc	p.P239T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	239					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CACCAGCAGGGAATAAGAATC	0.289																																					p.P239T		Atlas-SNP	.											.	SGPP1	29	.	0			c.C715A						PASS	.						64	64	64					14																	64165346		2203	4295	6498	SO:0001583	missense	81537	exon2			AGCAGGGAATAAG	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.715C>A	14.37:g.64165346G>T	ENSP00000247225:p.Pro239Thr	Somatic	449	0	0		WXS	Illumina HiSeq	Phase_I	457	97	0.212254	NM_030791	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202340	0.22121	.	.	ENSG00000126821	ENST00000247225	T	0.51574	0.7	5.6	2.62	0.31277	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.568287	0.19623	N	0.109879	T	0.13243	0.0321	N	0.00873	-1.125	0.27550	N	0.950526	B	0.17038	0.02	B	0.14578	0.011	T	0.11012	-1.0605	10	0.22109	T	0.4	-25.1553	1.6276	0.02726	0.1449:0.2663:0.343:0.2458	.	239	Q9BX95	SGPP1_HUMAN	T	239	ENSP00000247225:P239T	ENSP00000247225:P239T	P	-	1	0	SGPP1	63235099	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	0.599000	0.24089	1.500000	0.48636	-0.165000	0.13383	CCC	.	.	none		0.289	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		T	64165346	G	T	64165346	3	4	24	1	0	0	0	0	1	0	0	0	14219	1174	41	4	618	4	SGPP1	14	64165346	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	8347728	64165346	43184194	112	21434										
MTHFD1	4522	hgsc.bcm.edu	37	chr14	64921449	64921449	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttctttccccagggctttggGaatctccccatctgcatggc	9	14	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:64921449G>A	ENST00000545908.1	+	26	2971	c.2742G>A	c.(2740-2742)ggG>ggA	p.G914G	MTHFD1_ENST00000216605.8_Silent_p.G858G|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	858	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AGGGCTTTGGGAATCTCCCCA	0.488																																					p.G858G	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Atlas-SNP	.											.	MTHFD1	61	.	0			c.G2574A						PASS	.						103	91	95					14																	64921449		2203	4300	6503	SO:0001819	synonymous_variant	4522	exon26			CTTTGGGAATCTC	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2742G>A	14.37:g.64921449G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37																																																																																				.	.	none		0.488	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			A	64921449	G	A	64921449	2	1	24	1	0	0	0	0	0	0	0	1	9927	1161	41	2		2	MTHFD1	14	64921449	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	756103	64921449	42428091	113	21435										
C14orf145	145508	hgsc.bcm.edu	37	chr14	81329188	81329188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgcatctctctctccagttcCtgaagccgccgctccacccg	7	20	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:81329188C>A	ENST00000555265.1	-	9	1050	c.675G>T	c.(673-675)caG>caT	p.Q225H	CEP128_ENST00000216517.6_Missense_Mutation_p.Q225H|CEP128_ENST00000281129.3_Missense_Mutation_p.Q225H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	225						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCCAGTTCCTGAAGCCGCC	0.478																																					p.Q225H		Atlas-SNP	.											.	CEP128	146	.	0			c.G675T						PASS	.						74	67	69					14																	81329188		2203	4300	6503	SO:0001583	missense	145508	exon8			CAGTTCCTGAAGC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.675G>T	14.37:g.81329188C>A	ENSP00000451162:p.Gln225His	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	39	19	0.487179	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.21|19.21	3.784243|3.784243	0.70222|0.70222	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517|ENST00000554827	T;T;T|.	0.55052|.	1.18;1.18;0.54|.	6.08|6.08	2.89|2.89	0.33648|0.33648	.|.	0.069385|.	0.64402|.	D|.	0.000016|.	T|T	0.64843|0.64843	0.2635|0.2635	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.57257|.	0.979;0.963;0.963|.	P;P;P|.	0.60473|.	0.875;0.875;0.81|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|5	0.72032|.	D|.	0.01|.	.|.	10.0884|10.0884	0.42432|0.42432	0.0:0.6984:0.0:0.3016|0.0:0.6984:0.0:0.3016	.|.	225;106;225|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	H|M	225|104	ENSP00000281129:Q225H;ENSP00000451162:Q225H;ENSP00000216517:Q225H|.	ENSP00000216517:Q225H|.	Q|R	-|-	3|2	2|0	CEP128|CEP128	80398941|80398941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	1.282000|1.282000	0.33226|0.33226	0.919000|0.919000	0.36945|0.36945	0.655000|0.655000	0.94253|0.94253	CAG|AGG	.	.	none		0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		A	81329188	C	A	81329188	3	1	24	1	0	0	0	0	1	0	0	0	1749	680	24	4	2677	4	C14orf145	14	81329188	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	16407739	81329188	26020352	114	21436										
KIF26A	26153	hgsc.bcm.edu	37	chr14	104643409	104643409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgggccagcaaggtagaagcAgcacaccgtcttgccggaca	13	13	1	1	rs2487303	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr14:104643409A>G	ENST00000423312.2	+	12	4284	c.4284A>G	c.(4282-4284)gcA>gcG	p.A1428A	KIF26A_ENST00000315264.7_Silent_p.A1289A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1428					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGTAGAAGCAGCACACCGTC	0.706													G|||	3872	0.773163	0.826	0.7176	5008	,	,		14740	0.7827		0.7048	False		,,,				2504	0.8016				p.A1428A		Atlas-SNP	.											KIF26A,NS,carcinoma,0,1	KIF26A	84	1	0			c.A4284G						scavenged	.	G		3386,734		1393,600,67	11	16	14		4284	-7.2	0	14	dbSNP_100	14	6044,2232		2231,1582,325	no	coding-synonymous	KIF26A	NM_015656.1		3624,2182,392	GG,GA,AA		26.9696,17.8155,23.9271		1428/1883	104643409	9430,2966	2060	4138	6198	SO:0001819	synonymous_variant	26153	exon12			AGAAGCAGCACAC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4284A>G	14.37:g.104643409A>G		Somatic	10	2	0.2		WXS	Illumina HiSeq	Phase_I	19	8	0.421053	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			A|0.242;G|0.758	0.758	strong		0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104643409	A	G	104643409	2	3	24	1	0	0	0	0	0	0	0	1	8294	175	7	3		3	KIF26A	14	104643409	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	23314221	104643409	2706131	115	21437										
CHTF18	63922	hgsc.bcm.edu	37	chr16	841239	841239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	acgagaggccttcccggaagCccaggcccagtgttgagccg	14	14	0	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:841239C>T	ENST00000262315.9	+	8	1036	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.P520S|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Missense_Mutation_p.P353S|RPUSD1_ENST00000007264.2_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	325					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TTCCCGGAAGCCCAGGCCCAG	0.647																																					p.P325S		Atlas-SNP	.											.	CHTF18	52	.	0			c.C973T						PASS	.						19	24	22					16																	841239		2062	4183	6245	SO:0001583	missense	63922	exon8			CGGAAGCCCAGGC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.973C>T	16.37:g.841239C>T	ENSP00000262315:p.Pro325Ser	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	55	29	0.527273	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.52|10.52	1.373536|1.373536	0.24857|0.24857	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.10573	.|2.86;2.9;2.88	4.85|4.85	0.255|0.255	0.15561|0.15561	.|.	.|0.459860	.|0.21606	.|N	.|0.071879	T|T	0.09730|0.09730	0.0239|0.0239	M|M	0.74647|0.74647	2.275|2.275	0.35423|0.35423	D|D	0.79339|0.79339	.|B;B	.|0.32467	.|0.372;0.139	.|B;B	.|0.29942	.|0.109;0.017	T|T	0.13282|0.13282	-1.0515|-1.0515	5|10	.|0.25106	.|T	.|0.35	-14.7794|-14.7794	2.5691|2.5691	0.04790|0.04790	0.1507:0.5277:0.1468:0.1748|0.1507:0.5277:0.1468:0.1748	.|.	.|353;325	.|Q8WVB6-2;Q8WVB6	.|.;CTF18_HUMAN	V|S	220|520;353;325	.|ENSP00000313029:P520S;ENSP00000406252:P353S;ENSP00000262315:P325S	.|ENSP00000262315:P325S	A|P	+|+	2|1	0|0	CHTF18|CHTF18	781240|781240	0.863000|0.863000	0.29885|0.29885	0.995000|0.995000	0.50966|0.50966	0.896000|0.896000	0.52359|0.52359	0.552000|0.552000	0.23376|0.23376	0.190000|0.190000	0.20209|0.20209	0.579000|0.579000	0.79373|0.79373	GCC|CCC	.	.	none		0.647	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		T	841239	C	T	841239	3	4	24	1	0	0	0	0	1	0	0	0	3414	739	26	2	1003	2	CHTF18	16	841239	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		841239	89513514	116	21438										
TPSAB1	7177	hgsc.bcm.edu	37	chr16	1290983	1290983	+	Missense_Mutation	SNP	G	G	C													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gctgcccgtcctggcgagccGcgcctacgcggcccctggtg							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:1290983G>C	ENST00000338844.3	+	2	77	c.44G>C	c.(43-45)cGc>cCc	p.R15P	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R22P	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	15			R -> P (in dbSNP:rs61729112). {ECO:0000269|PubMed:10898108, ECO:0000269|PubMed:19748655, ECO:0000269|Ref.5}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R15P(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CTGGCGAGCCGCGCCTACGCG	0.716																																					p.R15P		Atlas-SNP	.											TPSAB1,trunk,malignant_melanoma,0,2	TPSAB1	24	2	1	Substitution - Missense(1)	skin(1)	c.G44C						scavenged	.						1	1	1					16																	1290983		586	1552	2138	SO:0001583	missense	7177	exon2			CGAGCCGCGCCTA	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.44G>C	16.37:g.1290983G>C	ENSP00000343577:p.Arg15Pro	Somatic	190	7	0.0368421		WXS	Illumina HiSeq	Phase_I	249	22	0.0883534	NM_003294	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	c	4.459	0.085105	0.08583	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.81078	-1.45;-1.45	2.84	-5.43	0.02632	.	2.107210	0.02322	N	0.073111	T	0.55401	0.1918	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51228	-0.8732	10	0.27785	T	0.31	.	7.2086	0.25921	0.0:0.3966:0.416:0.1873	.	15	Q15661	TRYB1_HUMAN	P	15;22	ENSP00000343577:R15P;ENSP00000418247:R22P	ENSP00000343577:R15P	R	+	2	0	TPSAB1	1230984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.087000	0.00610	-1.673000	0.01462	-2.764000	0.00121	CGC	G|0.667;C|0.333	0.333	strong		0.716	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		C	1290983	G	C	1290983	3	2	24	1	0	0	0	0	1	0	0	0	16420	1087	38	4	46	4	TPSAB1	16	1290983	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	449744	1290983	89063770	117	21439	428	2								
TPSAB1	7177	hgsc.bcm.edu	37	chr16	1290984	1290984	+	Silent	SNP	C	C	G													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctgcccgtcctggcgagccgCgcctacgcggcccctggtga							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:1290984C>G	ENST00000338844.3	+	2	78	c.45C>G	c.(43-45)cgC>cgG	p.R15R	TPSAB1_ENST00000461509.2_Silent_p.R22R	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	15			R -> P (in dbSNP:rs61729112). {ECO:0000269|PubMed:10898108, ECO:0000269|PubMed:19748655, ECO:0000269|Ref.5}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCGAGCCGCGCCTACGCGG	0.716																																					p.R15R		Atlas-SNP	.											TPSAB1,trunk,malignant_melanoma,+1,2	TPSAB1	24	2	0			c.C45G						scavenged	.						1	1	1					16																	1290984		582	1557	2139	SO:0001819	synonymous_variant	7177	exon2			GAGCCGCGCCTAC	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.45C>G	16.37:g.1290984C>G		Somatic	192	7	0.0364583		WXS	Illumina HiSeq	Phase_I	249	23	0.0923695	NM_003294	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																			.	.	weak		0.716	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		G	1290984	C	G	1290984	2	3	24	1	0	0	0	0	0	0	0	1	16420	755	27	4		4	TPSAB1	16	1290984	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	1	1290984	89063769	118	21440	428	2								
CREBBP	1387	hgsc.bcm.edu	37	chr16	3786764	3786764	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aggtgggtggcaatggaagaTgtaatcatctccttcacttg	12	7	3	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:3786764T>A	ENST00000262367.5	-	27	5256	c.4447A>T	c.(4447-4449)Atc>Ttc	p.I1483F	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1445F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1483	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAATGGAAGATGTAATCATCT	0.512			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.I1483F		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	CREBBP,colon,carcinoma,+1,4	CREBBP	546	4	0			c.A4447T						PASS	.						225	192	203					16																	3786764		2197	4300	6497	SO:0001583	missense	1387	exon27			GGAAGATGTAATC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4447A>T	16.37:g.3786764T>A	ENSP00000262367:p.Ile1483Phe	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	194	43	0.221649	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.116784	0.77323	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94793	-3.52;-3.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98516	1.0621	10	0.87932	D	0	-22.4571	14.6308	0.68655	0.0:0.0:0.0:1.0	.	1513;1483	Q4LE28;Q92793	.;CBP_HUMAN	F	1483;1513;1445;72	ENSP00000262367:I1483F;ENSP00000371502:I1445F	ENSP00000262367:I1483F	I	-	1	0	CREBBP	3726765	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.997000	0.88414	2.107000	0.64212	0.459000	0.35465	ATC	.	.	none		0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3786764	T	A	3786764	3	1	24	1	0	0	0	0	1	0	0	0	3861	1464	51	5	2901	5	CREBBP	16	3786764	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	2495780	3786764	86567989	119	21441										
GSPT1	2935	hgsc.bcm.edu	37	chr16	12009383	12009383	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ttgacgttgagttgccggctGaaggccgcgctgaggttctc	15	10	1	4			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:12009383G>C	ENST00000420576.2	-	1	41				GSPT1_ENST00000434724.2_Missense_Mutation_p.F65L|GSPT1_ENST00000439887.2_Missense_Mutation_p.F65L|AC007216.1_ENST00000583357.1_RNA	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GTTGCCGGCTGAAGGCCGCGC	0.761																																					p.F65L		Atlas-SNP	.											.	GSPT1	71	.	0			c.C195G						PASS	.						10	13	12					16																	12009383		1526	3533	5059	SO:0001627	intron_variant	2935	exon1			CCGGCTGAAGGCC	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+515C>G	16.37:g.12009383G>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	101	22	0.217822	NM_001130006	J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000420576.2	37	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.121366	0.37436	.	.	ENSG00000103342	ENST00000434724;ENST00000439887	T;T	0.34472	1.42;1.36	5.09	4.13	0.48395	.	0.638850	0.14978	U	0.287426	T	0.24586	0.0596	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.03922	-1.0992	9	0.19590	T	0.45	-5.7554	10.5732	0.45212	0.0913:0.0:0.9087:0.0	.	65;62	E7EQZ3;Q96GF2	.;.	L	65	ENSP00000398131:F65L;ENSP00000408399:F65L	ENSP00000398131:F65L	F	-	3	2	GSPT1	11916884	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	2.931000	0.48932	1.129000	0.42072	0.457000	0.33378	TTC	.	.	none		0.761	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421514.1	NM_002094		C	12009383	G	C	12009383	1	2	24	0	1	0	0	0	0	0	0	0	6826	1281	45	4		4	GSPT1	16	12009383	Intron	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	8222619	12009383	78345370	120	21442										
RBBP6	5930	hgsc.bcm.edu	37	chr16	24557518	24557518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aatgctctgattcctaagaaTtcttctgtaattgttagaag	7	6	3	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:24557518T>A	ENST00000319715.4	+	2	633	c.201T>A	c.(199-201)aaT>aaA	p.N67K	RBBP6_ENST00000381039.3_Missense_Mutation_p.N67K|RBBP6_ENST00000452655.2_Missense_Mutation_p.N67K|RBBP6_ENST00000348022.2_Missense_Mutation_p.N67K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	67	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCTAAGAATTCTTCTGTAA	0.299																																					p.N67K		Atlas-SNP	.											.	RBBP6	158	.	0			c.T201A						PASS	.						39	42	41					16																	24557518		2192	4278	6470	SO:0001583	missense	5930	exon2			TAAGAATTCTTCT		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.201T>A	16.37:g.24557518T>A	ENSP00000317872:p.Asn67Lys	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	107	31	0.28972	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103777	0.76983	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	6.08	1.31	0.21738	DWNN domain (2);	0.091915	0.64402	D	0.000001	T	0.64148	0.2572	M	0.86573	2.825	0.51767	D	0.999934	D;D;D;D	0.76494	0.999;0.996;0.997;0.996	D;D;D;P	0.74023	0.982;0.937;0.962;0.894	T	0.66380	-0.5938	10	0.87932	D	0	-31.0125	10.2634	0.43441	0.0:0.4392:0.0:0.5608	.	67;67;67;67	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	K	67	ENSP00000370427:N67K;ENSP00000390537:N67K;ENSP00000317872:N67K;ENSP00000316291:N67K	ENSP00000317872:N67K	N	+	3	2	RBBP6	24465019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.119000	0.31258	0.161000	0.19458	0.482000	0.46254	AAT	.	.	none		0.299	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		A	24557518	T	A	24557518	3	1	24	1	0	0	0	0	1	0	0	0	13103	1490	52	5	207	5	RBBP6	16	24557518	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	12548135	24557518	65797235	121	21443										
TBC1D10B	26000	hgsc.bcm.edu	37	chr16	30381303	30381303	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cggggccggagcagaggtctCggccgaccccgggacccagg	18	15	1	1	rs12930787	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:30381303C>G	ENST00000409939.3	-	1	282	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	68	Pro-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			gcAGAGGTCTCGGCCGACCCC	0.786													G|||	1131	0.225839	0.2224	0.2219	5008	,	,		5407	0.0794		0.327	False		,,,				2504	0.2802				p.E68Q		Atlas-SNP	.											.	TBC1D10B	32	.	0			c.G202C						PASS	.						1	1	1					16																	30381303		132	419	551	SO:0001583	missense	26000	exon1			AGGTCTCGGCCGA	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.202G>C	16.37:g.30381303C>G	ENSP00000386538:p.Glu68Gln	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	CCDS10676.2	476	0.21794871794871795	101	0.20528455284552846	86	0.23756906077348067	47	0.08216783216783216	242	0.31926121372031663	G	0.004	-2.356799	0.00214	.	.	ENSG00000169221	ENST00000409939	T	0.04156	3.69	3.57	-0.0103	0.13997	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45366	-0.9266	8	0.02654	T	1	.	5.7944	0.18379	0.2033:0.4717:0.325:0.0	rs12930787	68	Q4KMP7	TB10B_HUMAN	Q	68	ENSP00000386538:E68Q	ENSP00000386538:E68Q	E	-	1	0	TBC1D10B	30288804	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	0.290000	0.18975	-0.070000	0.12908	-0.647000	0.03941	GAG	C|0.776;G|0.224	0.224	strong		0.786	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		G	30381303	C	G	30381303	3	3	24	1	0	0	0	0	1	0	0	0	15596	893	31	4	2260	4	TBC1D10B	16	30381303	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	5823785	30381303	59973450	122	21444										
ZNF768	79724	hgsc.bcm.edu	37	chr16	30537265	30537265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aaactctgggctttgtggctCaaacccagggctctggggtt	13	10	3	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:30537265C>G	ENST00000380412.5	-	2	371	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.E35Q|ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	66	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTTTGTGGCTCAAACCCAGGG	0.547																																					p.E66Q		Atlas-SNP	.											.	ZNF768	28	.	0			c.G196C						PASS	.						73	78	76					16																	30537265		2197	4300	6497	SO:0001583	missense	79724	exon2			GTGGCTCAAACCC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.196G>C	16.37:g.30537265C>G	ENSP00000369777:p.Glu66Gln	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	87	18	0.206897	NM_024671	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723574	0.48728	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06687	3.27	4.28	4.28	0.50868	.	0.204949	0.24429	N	0.038613	T	0.07773	0.0195	N	0.24115	0.695	0.80722	D	1	B	0.23937	0.094	B	0.32149	0.141	T	0.37430	-0.9706	10	0.24483	T	0.36	-4.1654	14.2663	0.66121	0.0:1.0:0.0:0.0	.	66	Q9H5H4	ZN768_HUMAN	Q	66;35	ENSP00000369777:E66Q	ENSP00000369777:E66Q	E	-	1	0	ZNF768	30444766	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	2.717000	0.47227	2.236000	0.73375	0.561000	0.74099	GAG	.	.	none		0.547	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		G	30537265	C	G	30537265	3	3	24	1	0	0	0	0	1	0	0	0	18138	835	29	4	1430	4	ZNF768	16	30537265	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	155962	30537265	59817488	123	21445										
SALL1	6299	hgsc.bcm.edu	37	chr16	51175658	51175658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggagctgccgccgccgccgcTgctgctgctgctgctgctgc	15	17	0	0	rs13336129	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr16:51175658T>C	ENST00000251020.4	-	2	508	c.475A>G	c.(475-477)Agc>Ggc	p.S159G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S62G|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgctgctgctgctg	0.632													-|||	243	0.0485224	0.0567	0.0461	5008	,	,		12570	0.0288		0.0845	False		,,,				2504	0.0225				p.S159G	GBM(103;1352 1446 1855 4775 8890)	Atlas-SNP	.											SALL1,NS,carcinoma,0,1	SALL1	301	1	1	Substitution - Missense(1)	prostate(1)	c.A475G						scavenged	.	C	GLY/SER,GLY/SER	201,4161		4,193,1984	21	24	23		475,184	-0.4	0	16	dbSNP_121	23	540,8026		25,490,3768	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	29,683,5752	CC,CT,TT		6.304,4.608,5.7317	benign,benign	159/1325,62/1228	51175658	741,12187	2181	4283	6464	SO:0001583	missense	6299	exon2			CGCCGCTGCTGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475A>G	16.37:g.51175658T>C	ENSP00000251020:p.Ser159Gly	Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	44	3	0.0681818	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	125	0.05723443223443223	21	0.042682926829268296	18	0.049723756906077346	21	0.03671328671328671	65	0.08575197889182058	-	0.001	-3.561441	0.00009	0.04608	0.06304	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06933	3.24;3.3	0.185	-0.371	0.12525	.	0.296893	0.19374	N	0.115821	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.16289	0.015	T	0.43032	-0.9416	9	0.18710	T	0.47	.	.	.	.	rs13336129	159	Q9NSC2	SALL1_HUMAN	G	159;62;123	ENSP00000251020:S159G;ENSP00000407914:S62G	ENSP00000251020:S159G	S	-	1	0	SALL1	49733159	0.876000	0.30132	0.002000	0.10522	0.005000	0.04900	-0.084000	0.11268	-0.889000	0.03950	-0.925000	0.02716	AGC	T|0.933;C|0.067	0.067	strong		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51175658	T	C	51175658	3	2	24	1	0	0	0	0	1	0	0	0	13810	1580	55	3	3507	3	SALL1	16	51175658	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	20638393	51175658	39179095	124	21446										
TP53	7157	hgsc.bcm.edu	37	chr17	7574035	7574035	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agcgctcacgcccacggatcTgcagcaacagaggaggggga	15	12	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:7574035T>C	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(10)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCCACGGATCTGCAGCAACAG	0.507		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000269305,NS,carcinoma,0,13	TP53	33396	13	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)	c.994-2A>G						PASS	.						44	36	38					17																	7574035		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon11	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	CGGATCTGCAGCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.994-2A>G	17.37:g.7574035T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	63	26	0.412698	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898270	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.	.	.	none		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7574035	T	C	7574035	5	2	24	1	0	0	0	0	0	0	1	0	16378	1594	55	3	197	3	TP53	17	7574035	Splice_Site	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10		7574035	73621175	125	21447										
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21318951	21318951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcctcctggctgctgttcggCatcatcttctgggtcatcgc	11	14	4	0	rs75757803	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:21318951C>T	ENST00000583088.1	+	3	1192	c.297C>T	c.(295-297)ggC>ggT	p.G99G	KCNJ12_ENST00000331718.5_Silent_p.G99G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	99					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)	TGCTGTTCGGCATCATCTTCT	0.637										Prostate(3;0.18)			.|||	25	0.00499201	0.0182	0.0014	5008	,	,		38536	0.0		0.0	False		,,,				2504	0.0				p.G99G		Atlas-SNP	.											KCNJ12,NS,carcinoma,+2,1	.	.	1	0			c.C297T						scavenged	.						116	75	89					17																	21318951		2203	4300	6503	SO:0001819	synonymous_variant	100134444	exon3			GTTCGGCATCATC	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.297C>T	17.37:g.21318951C>T		Somatic	71	16	0.225352		WXS	Illumina HiSeq	Phase_I	68	18	0.264706	NM_001194958	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																			C|0.500;T|0.500	0.500	weak		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21318951	C	T	21318951	2	4	24	1	0	0	0	0	0	0	0	1	8046	697	25	2		2	KCNJ12	17	21318951	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	13744916	21318951	59876259	126	21448										
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21319488	21319488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	catgagattgacgaggccagCccgctcttcggcatcagccg	12	14	2	2	rs77176173	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:21319488C>T	ENST00000583088.1	+	3	1729	c.834C>T	c.(832-834)agC>agT	p.S278S	KCNJ12_ENST00000331718.5_Silent_p.S278S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	278					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)	p.S278S(1)		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)	ACGAGGCCAGCCCGCTCTTCG	0.607										Prostate(3;0.18)																											p.S278S		Atlas-SNP	.											KCNJ12,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	lung(1)	c.C834T						scavenged	.						104	85	91					17																	21319488		2203	4300	6503	SO:0001819	synonymous_variant	100134444	exon3			GGCCAGCCCGCTC	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.834C>T	17.37:g.21319488C>T		Somatic	158	19	0.120253		WXS	Illumina HiSeq	Phase_I	135	20	0.148148	NM_001194958	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																			C|0.625;T|0.375	0.375	strong		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319488	C	T	21319488	2	4	24	1	0	0	0	0	0	0	0	1	8046	738	26	2		2	KCNJ12	17	21319488	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	537	21319488	59875722	127	21449										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305783	39305784	+	In_Frame_Ins	INS	-	-	CTGGGGCGGCAGCAG													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agcaggtggtctggcagcagINScaggggcggcagcagctgga							TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:39305783_39305784insCTGGGGCGGCAGCAG	ENST00000343246.4	-	1	270_271	c.236_237insCTGCTGCCGCCCCAG	c.(235-237)tgc>tgCTGCTGCCGCCCCAGc	p.79_80insCCRPS		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		C -> CCCRPS.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tctggcagcagcaggggcggca	0.653																																					p.C79delinsCCCRPS		Atlas-Indel	.											KRTAP4-5,colon,carcinoma,-2,3	KRTAP4-5	34	3	0			c.237_238insCTGCTGCCGCCCCAG						PASS	.																																			SO:0001652	inframe_insertion	85289	exon1			.	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.236_237insCTGCTGCCGCCCCAG	17.37:g.39305783_39305784insCTGGGGCGGCAGCAG	ENSP00000340546:p.Cys79_Cys80insCysCysArgProSer	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	58	30	0.517241	NM_033188		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.	.	none		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			CTGGGGCGGCAGCAG	39305784	-	CTGGGGCGGCAGCAG	39305783	7	5	24	1	0	1	1	0	0	0	0	0	8554	963	34	0	312	0	KRTAP4-5	17	39305783	In_Frame_Ins	INS	-	TCGA-GR-A4D4-01A-11D-A31X-10	17986295	39305783	41889427	128	21450										
KRTAP9-2	83899	hgsc.bcm.edu	37	chr17	39383027	39383027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcacaccctgctgccagcccGcctgctgtgtgtccagctgc	11	18	0	0	rs71371478	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:39383027G>T	ENST00000377721.3	+	1	128	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.A41S(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCGCCTGCTGTGT	0.637																																					p.A41S		Atlas-SNP	.											KRTAP9-2,extremity,malignant_melanoma,0,1	KRTAP9-2	24	1	1	Substitution - Missense(1)	skin(1)	c.G121T						scavenged	.						59	53	55					17																	39383027		2203	4300	6503	SO:0001583	missense	83899	exon1			CAGCCCGCCTGCT	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.121G>T	17.37:g.39383027G>T	ENSP00000366950:p.Ala41Ser	Somatic	67	7	0.104478		WXS	Illumina HiSeq	Phase_I	49	9	0.183673	NM_031961	Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.020245	0.00418	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01192	5.2;5.4	2.86	-2.81	0.05805	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	5.0512	0.14508	0.3642:0.0:0.0934:0.5425	.	41	Q9BYQ4	KRA92_HUMAN	S	41	ENSP00000366950:A41S;ENSP00000398325:A41S	ENSP00000366950:A41S	A	+	1	0	KRTAP9-2	36636553	0.000000	0.05858	0.088000	0.20740	0.203000	0.24098	-1.973000	0.01500	-1.243000	0.02519	-4.519000	0.00005	GCC	G|0.997;T|0.003	0.003	strong		0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			T	39383027	G	T	39383027	3	4	24	1	0	0	0	0	1	0	0	0	8573	1087	38	4	123	4	KRTAP9-2	17	39383027	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	77244	39383027	41812183	129	21451										
SLC4A1	6521	hgsc.bcm.edu	37	chr17	42336903	42336903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cctctgaatccgggggaatcTtttccagaattccagatggt	10	10	2	3			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:42336903T>C	ENST00000262418.6	-	8	811	c.656A>G	c.(655-657)aAg>aGg	p.K219R	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	219	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGGGGAATCTTTTCCAGAAT	0.597																																					p.K219R		Atlas-SNP	.											.	SLC4A1	104	.	0			c.A656G						PASS	.						95	88	90					17																	42336903		2203	4300	6503	SO:0001583	missense	6521	exon8			GGAATCTTTTCCA		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.656A>G	17.37:g.42336903T>C	ENSP00000262418:p.Lys219Arg	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_000342	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	t	6.620	0.482756	0.12581	.	.	ENSG00000004939	ENST00000262418	T	0.69435	-0.4	5.34	1.89	0.25635	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.483231	0.23159	N	0.051267	T	0.61035	0.2315	M	0.65975	2.015	0.39099	D	0.961257	B;B	0.20671	0.008;0.047	B;B	0.28916	0.012;0.096	T	0.52147	-0.8614	10	0.31617	T	0.26	.	6.9872	0.24735	0.0:0.0962:0.1395:0.7643	.	219;219	E2RVJ0;P02730	.;B3AT_HUMAN	R	219	ENSP00000262418:K219R	ENSP00000262418:K219R	K	-	2	0	SLC4A1	39692429	1.000000	0.71417	0.817000	0.32601	0.144000	0.21451	2.477000	0.45180	0.048000	0.15891	-0.666000	0.03841	AAG	.	.	none		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		C	42336903	T	C	42336903	3	2	24	1	0	0	0	0	1	0	0	0	14650	1609	56	3	2131	3	SLC4A1	17	42336903	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	2953876	42336903	38858307	130	21452										
SPOP	8405	hgsc.bcm.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	attcaggatggagaatttgaAttttgcccgaacttcactct	8	8	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:47696644A>T	ENST00000393328.2	-	5	669	c.304T>A	c.(304-306)Ttc>Atc	p.F102I	SPOP_ENST00000503676.1_Missense_Mutation_p.F102I|SPOP_ENST00000393331.3_Missense_Mutation_p.F102I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102I|SPOP_ENST00000347630.2_Missense_Mutation_p.F102I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																											p.F102I		Atlas-SNP	.											SPOP,NS,adenoma,+1,3	SPOP	91	3	0			c.T304A						PASS	.						147	136	140					17																	47696644		2203	4300	6503	SO:0001583	missense	8405	exon4			ATTTGAATTTTGC	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>A	17.37:g.47696644A>T	ENSP00000377001:p.Phe102Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	114	33	0.289474	NM_001007228	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	31	5.059254	0.93846	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83459	0.5259	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.86433	0.1762	10	0.72032	D	0.01	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	I	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102I;ENSP00000377004:F102I;ENSP00000240327:F102I;ENSP00000425905:F102I;ENSP00000420908:F102I;ENSP00000426986:F102I;ENSP00000420960:F102I;ENSP00000426262:F102I;ENSP00000424119:F102I;ENSP00000426537:F102I	ENSP00000240327:F102I	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC	.	.	none		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		T	47696644	A	T	47696644	3	4	24	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	5359741	47696644	33498566	131	21453										
TEX2	55852	hgsc.bcm.edu	37	chr17	62290117	62290117	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tagtgggggagggggaggatGaggtacacatagacacacat	17	5	0	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:62290117G>T	ENST00000583097.1	-	2	1633	c.1461C>A	c.(1459-1461)ctC>ctA	p.L487L	TEX2_ENST00000258991.3_Silent_p.L487L|TEX2_ENST00000584379.1_Silent_p.L487L			Q8IWB9	TEX2_HUMAN	testis expressed 2	487					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGAGGATGAGGTACACAT	0.512																																					p.L487L		Atlas-SNP	.											.	TEX2	89	.	0			c.C1461A						PASS	.						96	93	94					17																	62290117		2203	4300	6503	SO:0001819	synonymous_variant	55852	exon2			GAGGATGAGGTAC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1461C>A	17.37:g.62290117G>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	146	44	0.30137	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																				.	.	none		0.512	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		T	62290117	G	T	62290117	2	4	24	1	0	0	0	0	0	0	0	1	15778	1277	45	4		4	TEX2	17	62290117	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	14593473	62290117	18905093	132	21454										
CACNG5	27091	hgsc.bcm.edu	37	chr17	64881273	64881273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	agcccctccgacatctccagCgaggcctccctgcagatgaa	9	17	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:64881273C>T	ENST00000533854.1	+	6	981	c.744C>T	c.(742-744)agC>agT	p.S248S	CACNG5_ENST00000307139.3_Silent_p.S248S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	248				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ACATCTCCAGCGAGGCCTCCC	0.637																																					p.S248S		Atlas-SNP	.											.	CACNG5	77	.	0			c.C744T						PASS	.						54	48	50					17																	64881273		2203	4300	6503	SO:0001819	synonymous_variant	27091	exon5			CTCCAGCGAGGCC	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.744C>T	17.37:g.64881273C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	16	0.355556	NM_145811	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	CCDS11665.1																																																																																			.	.	none		0.637	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		T	64881273	C	T	64881273	2	4	24	1	0	0	0	0	0	0	0	1	2560	767	27	1		1	CACNG5	17	64881273	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	2591156	64881273	16313937	133	21455										
PITPNC1	26207	hgsc.bcm.edu	37	chr17	65574302	65574302	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	aatttgcttttctcccacagTgttcctttctgccgaaattc	5	12	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:65574302T>A	ENST00000581322.1	+	5	295	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PITPNC1_ENST00000580974.1_Splice_Site_p.C99S|PITPNC1_ENST00000299954.9_Missense_Mutation_p.C99S|PITPNC1_ENST00000335257.6_Missense_Mutation_p.C99S			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	99					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCCACAGTGTTCCTTTCT	0.423																																					p.C99S		Atlas-SNP	.											.	PITPNC1	47	.	0			c.T295A						PASS	.						73	72	72					17																	65574302		1943	4146	6089	SO:0001630	splice_region_variant	26207	exon5			CCACAGTGTTCCT	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.295-1T>A	17.37:g.65574302T>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	53	19	0.358491	NM_012417	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659119	0.47467	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.44482	0.92;0.92	5.47	5.47	0.80525	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.66560	2.04	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.74348	0.983;0.978	T	0.58736	-0.7584	10	0.30854	T	0.27	-4.8363	15.4926	0.75619	0.0:0.0:0.0:1.0	.	99;99	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	S	99	ENSP00000335618:C99S;ENSP00000299954:C99S	ENSP00000299954:C99S	C	+	1	0	PITPNC1	63004764	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.332000	0.79203	2.198000	0.70561	0.459000	0.35465	TGT	.	.	none		0.423	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	Missense_Mutation	A	65574302	T	A	65574302	5	1	24	1	0	0	0	0	0	0	1	0	11949	1710	59	5	313	5	PITPNC1	17	65574302	Splice_Site	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	693029	65574302	15620908	134	21456										
NT5C	30833	hgsc.bcm.edu	37	chr17	73127683	73127683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgggccaggaagccgcggcgTtgctccagcggcacgtgcgg	18	14	0	0	rs4788867	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr17:73127683T>C	ENST00000245552.2	-	1	207	c.120A>G	c.(118-120)caA>caG	p.Q40Q	NT5C_ENST00000582170.1_Silent_p.Q40Q|NT5C_ENST00000578337.1_5'Flank|NT5C_ENST00000582160.1_5'Flank|NT5C_ENST00000579082.1_5'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	40					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	AGCCGCGGCGTTGCTCCAGCG	0.766													C|||	2491	0.497404	0.4372	0.5115	5008	,	,		10373	0.2817		0.66	False		,,,				2504	0.6237				p.Q40Q		Atlas-SNP	.											.	NT5C	3	.	0			c.A120G						PASS	.						1	1	1					17																	73127683		1084	2247	3331	SO:0001819	synonymous_variant	30833	exon1			GCGGCGTTGCTCC	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.120A>G	17.37:g.73127683T>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_001252377	Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	37	CCDS11715.1																																																																																			T|0.501;C|0.499	0.499	strong		0.766	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			C	73127683	T	C	73127683	2	2	24	1	0	0	0	0	0	0	0	1	10684	1722	60	2		2	NT5C	17	73127683	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	7553381	73127683	8067527	135	21457										
TCEB3C	162699	hgsc.bcm.edu	37	chr18	44555232	44555232	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cacctggagctggcaggcagGcctggagcccgagtacaccg	15	14	0	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr18:44555232G>C	ENST00000330682.2	-	1	1217	c.982C>G	c.(982-984)Cct>Gct	p.P328A	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	328	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCAGGCAGGCCTGGAGCCC	0.667																																					p.P328A		Atlas-SNP	.											TCEB3C,NS,carcinoma,+1,1	TCEB3C	49	1	0			c.C982G						scavenged	.						47	50	49					18																	44555232		1643	3252	4895	SO:0001583	missense	162699	exon1			AGGCAGGCCTGGA	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.982C>G	18.37:g.44555232G>C	ENSP00000328232:p.Pro328Ala	Somatic	172	4	0.0232558		WXS	Illumina HiSeq	Phase_I	159	5	0.0314465	NM_145653		Missense_Mutation	SNP	ENST00000330682.2	37	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	3.159	-0.172460	0.06421	.	.	ENSG00000183791	ENST00000330682	T	0.10960	2.82	1.34	-2.68	0.06041	.	1.893950	0.03068	N	0.156781	T	0.07863	0.0197	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.07990	T	0.79	-0.1368	0.1824	0.00125	0.2463:0.1948:0.1744:0.3845	.	328	Q8NG57	ELOA3_HUMAN	A	328	ENSP00000328232:P328A	ENSP00000328232:P328A	P	-	1	0	TCEB3C	42809230	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.186000	0.09670	-2.618000	0.00441	-1.572000	0.00871	CCT	.	.	none		0.667	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		C	44555232	G	C	44555232	3	2	24	1	0	0	0	0	1	0	0	0	15680	1203	42	4	2305	4	TCEB3C	18	44555232	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		44555232	33522016	136	21458										
MED16	10025	hgsc.bcm.edu	37	chr19	879943	879943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccccagcagctcaccttcccGtggctgtcaatccccaccag	7	20	2	0	rs201392672|rs76403059	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000312090.6_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.H449Q			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					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)		TCACCTTCCCGTGGCTGTCAA	0.672																																					p.H449Q		Atlas-SNP	.											MED16,colon,carcinoma,0,1	MED16	61	1	0			c.C1347G						scavenged	.						13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025	exon8			CTTCCCGTGGCTG	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.1347C>G	19.37:g.879943G>C	ENSP00000464810:p.His449Gln	Somatic	148	3	0.0202703		WXS	Illumina HiSeq	Phase_I	172	6	0.0348837	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC	.	.	weak		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	879943	G	C	879943	3	2	24	1	0	0	0	0	1	0	0	0	9434	1136	40	4	1322	4	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		879943	58249040	137	21459										
KISS1R	84634	hgsc.bcm.edu	37	chr19	917526	917526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cacaccgtggctacgtccggAcccaacgcgtcctggggggc	14	16	0	0	rs10407968	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:917526A>G	ENST00000234371.5	+	1	177	c.24A>G	c.(22-24)ggA>ggG	p.G8G	KISS1R_ENST00000606939.1_Silent_p.G8G	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	8					activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		CTACGTCCGGACCCAACGCGT	0.781													g|||	933	0.186302	0.233	0.1758	5008	,	,		2673	0.1339		0.159	False		,,,				2504	0.2127				p.G8G		Atlas-SNP	.											.	KISS1R	10	.	0			c.A24G						PASS	.	G		616,3176		47,522,1327	5	5	5		24	-3.6	0	19	dbSNP_119	5	742,6668		44,654,3007	no	coding-synonymous	KISS1R	NM_032551.4		91,1176,4334	GG,GA,AA		10.0135,16.2447,12.1228		8/399	917526	1358,9844	1896	3705	5601	SO:0001819	synonymous_variant	84634	exon1			GTCCGGACCCAAC	AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"GPCR / Class A : RF amide peptide receptors"	4510	protein-coding gene	gene with protein product		604161	"G protein-coupled receptor 54"	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.24A>G	19.37:g.917526A>G		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_032551	A5D8U2|B2RTV1|Q96QG0	Silent	SNP	ENST00000234371.5	37	CCDS12049.1																																																																																			A|0.821;G|0.179	0.179	strong		0.781	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458217.3	NM_032551		G	917526	A	G	917526	2	3	24	1	0	0	0	0	0	0	0	1	8328	262	10	2		2	KISS1R	19	917526	Silent	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	37583	917526	58211457	138	21460										
TCF3	6929	hgsc.bcm.edu	37	chr19	1619333	1619333	+	Silent	SNP	G	G	A													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	accaggcctgcgtgccgcccGcccagtgacatggggccggt					rs1140828	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:1619333G>A	ENST00000262965.5	-	15	1652	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	TCF3_ENST00000453954.2_Silent_p.G352G|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.G385G|TCF3_ENST00000588136.1_Silent_p.G436G|TCF3_ENST00000344749.5_Silent_p.G436G	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CGTGCCGCCCGCCCAGTGACA	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								G|||	1179	0.235423	0.1702	0.2435	5008	,	,		13595	0.2897		0.3032	False		,,,				2504	0.1922				p.G436G		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.C1308T						PASS	.	G	,	770,3572		79,612,1480	11	14	13		1308,1308	-3.3	0.4	19	dbSNP_86	13	2644,5770		436,1772,1999	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	515,2384,3479	AA,AG,GG		31.4238,17.7338,26.7639	,	436/652,436/655	1619333	3414,9342	2171	4207	6378	SO:0001819	synonymous_variant	6929	exon15			CCGCCCGCCCAGT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1308C>T	19.37:g.1619333G>A		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	18	9	0.5	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.749;A|0.251	0.251	strong		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1619333	G	A	1619333	2	1	24	1	0	0	0	0	0	0	0	1	15691	1074	38	1		1	TCF3	19	1619333	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	701807	1619333	57509650	139	21461	429	2								
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C													0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc					rs8140	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000453954.2_Silent_p.S350S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.A1302G						PASS	.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	17	8	0.470588	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597	0.597	strong		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	24	1	0	0	0	0	0	0	0	1	15691	1683	59	2		2	TCF3	19	1619339	Silent	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	6	1619339	57509644	140	21462	429	2								
KANK3	256949	hgsc.bcm.edu	37	chr19	8399635	8399635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gctggtgctccagactggcgCgcagcagctctagctcgcgc	14	15	1	1	rs890853	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:8399635C>T	ENST00000593649.1	-	3	1141	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	KANK3_ENST00000330915.3_Missense_Mutation_p.R359H			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	359			R -> H (in dbSNP:rs890853).							breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGACTGGCGCGCAGCAGCTC	0.761													C|||	962	0.192093	0.093	0.3847	5008	,	,		10548	0.2113		0.2545	False		,,,				2504	0.1053				p.R359H		Atlas-SNP	.											.	KANK3	35	.	0			c.G1076A						PASS	.						1	1	1					19																	8399635		1163	2476	3639	SO:0001583	missense	256949	exon3			CTGGCGCGCAGCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1076G>A	19.37:g.8399635C>T	ENSP00000470728:p.Arg359His	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	8	6	0.75	NM_198471	Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37		505	0.23122710622710624	63	0.12804878048780488	131	0.36187845303867405	117	0.20454545454545456	194	0.2559366754617414	C	13.09	2.134512	0.37630	.	.	ENSG00000186994	ENST00000330915	T	0.54071	0.59	4.52	0.959	0.19624	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.53688	P	2.8999999999945736E-5	B	0.16396	0.017	B	0.09377	0.004	T	0.33394	-0.9870	8	0.54805	T	0.06	-23.4019	6.9118	0.24338	0.0:0.5682:0.0:0.4318	rs890853	359	Q6NY19-2	.	H	359	ENSP00000328923:R359H	ENSP00000328923:R359H	R	-	2	0	KANK3	8305635	0.014000	0.17966	0.688000	0.30117	0.060000	0.15804	0.173000	0.16724	0.468000	0.27243	0.297000	0.19635	CGC	C|0.769;T|0.231	0.231	strong		0.761	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		T	8399635	C	T	8399635	3	4	24	1	0	0	0	0	1	0	0	0	7978	768	27	1	1425	1	KANK3	19	8399635	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	6780296	8399635	50729348	141	21463										
PODNL1	79883	hgsc.bcm.edu	37	chr19	14043787	14043787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gccagtgggcaggcccatggGcagccgggttagctgattcc	16	12	0	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:14043787G>A	ENST00000339560.5	-	8	1543	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S	PODNL1_ENST00000254320.3_Missense_Mutation_p.P342S|PODNL1_ENST00000538371.2_Missense_Mutation_p.P422S|PODNL1_ENST00000538517.2_Missense_Mutation_p.P333S	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	424	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGGCCCATGGGCAGCCGGGTT	0.706																																					p.P424S		Atlas-SNP	.											.	PODNL1	27	.	0			c.C1270T						PASS	.						7	9	8					19																	14043787		2152	4212	6364	SO:0001583	missense	79883	exon8			CCATGGGCAGCCG	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1270C>T	19.37:g.14043787G>A	ENSP00000345175:p.Pro424Ser	Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	39	14	0.358974	NM_024825	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948115	0.73787	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.89	4.89	0.63831	.	0.000000	0.48286	D	0.000183	D	0.87553	0.6206	M	0.79475	2.455	0.44555	D	0.997517	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.88485	0.3071	10	0.54805	T	0.06	.	14.9488	0.71054	0.0:0.0:1.0:0.0	.	422;342;333;424	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	S	422;333;424;274;342	ENSP00000442553:P422S;ENSP00000440080:P333S;ENSP00000345175:P424S;ENSP00000254320:P342S	ENSP00000254320:P342S	P	-	1	0	PODNL1	13904787	1.000000	0.71417	0.995000	0.50966	0.372000	0.29890	8.738000	0.91569	2.271000	0.75665	0.453000	0.30009	CCC	.	.	none		0.706	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		A	14043787	G	A	14043787	3	1	24	1	0	0	0	0	1	0	0	0	12179	1203	42	2	272	2	PODNL1	19	14043787	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	5644152	14043787	45085196	142	21464										
RYR1	6261	hgsc.bcm.edu	37	chr19	38931449	38931449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gcagctcaagctctgcctggCcgccgagggcttcggcaacc	13	16	2	0			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:38931449C>T	ENST00000359596.3	+	2	110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	RYR1_ENST00000360985.3_Missense_Mutation_p.A37V|RYR1_ENST00000355481.4_Missense_Mutation_p.A37V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	37					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCTGCCTGGCCGCCGAGGGC	0.682																																					p.A37V		Atlas-SNP	.											.	RYR1	708	.	0			c.C110T						PASS	.						17	17	17					19																	38931449		2196	4289	6485	SO:0001583	missense	6261	exon2			GCCTGGCCGCCGA	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.110C>T	19.37:g.38931449C>T	ENSP00000352608:p.Ala37Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	92	29	0.315217	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.848708	0.51164	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98419	-4.92;-4.92;-4.92	4.68	4.68	0.58851	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.302095	0.25291	U	0.031737	D	0.98548	0.9515	M	0.77820	2.39	0.34501	D	0.706091	D;D	0.89917	0.994;1.0	P;D	0.68039	0.642;0.955	D	0.99967	1.1892	10	0.87932	D	0	.	11.0484	0.47872	0.0:0.8112:0.1888:0.0	.	37;37	P21817-2;P21817	.;RYR1_HUMAN	V	37	ENSP00000352608:A37V;ENSP00000347667:A37V;ENSP00000354254:A37V	ENSP00000347667:A37V	A	+	2	0	RYR1	43623289	1.000000	0.71417	0.988000	0.46212	0.475000	0.33008	5.618000	0.67722	2.150000	0.67090	0.556000	0.70494	GCC	.	.	none		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38931449	C	T	38931449	3	4	24	1	0	0	0	0	1	0	0	0	13768	739	26	2	116	2	RYR1	19	38931449	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	24887662	38931449	20197534	143	21465										
MAP3K10	4294	hgsc.bcm.edu	37	chr19	40720079	40720079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	caccggcggacgccatcggaCggggcgctggggcagcgggg	21	13	0	0	rs3746005	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:40720079C>T	ENST00000253055.3	+	9	2781	c.2493C>T	c.(2491-2493)gaC>gaT	p.D831D		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	831					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCATCGGACGGGGCGCTGG	0.716													C|||	3754	0.749601	0.7753	0.7392	5008	,	,		8943	0.6974		0.7485	False		,,,				2504	0.7771				p.D831D		Atlas-SNP	.											.	MAP3K10	70	.	0			c.C2493T						PASS	.	C		2775,495		1188,399,48	2	3	3		2493	-3.8	0.9	19	dbSNP_107	3	5211,1383		2065,1081,151	no	coding-synonymous	MAP3K10	NM_002446.3		3253,1480,199	TT,TC,CC		20.9736,15.1376,19.0389		831/955	40720079	7986,1878	1635	3297	4932	SO:0001819	synonymous_variant	4294	exon9			ATCGGACGGGGCG	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2493C>T	19.37:g.40720079C>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_002446	Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																			C|0.261;T|0.739	0.739	strong		0.716	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40720079	C	T	40720079	2	4	24	1	0	0	0	0	0	0	0	1	9244	535	19	1		1	MAP3K10	19	40720079	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	1788630	40720079	18408904	144	21466										
POU2F2	5452	hgsc.bcm.edu	37	chr19	42600030	42600030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctcgaagcgggaaatggtcgTctggctgaagtcgttgccgt	15	9	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:42600030T>C	ENST00000526816.2	-	9	730	c.715A>G	c.(715-717)Acg>Gcg	p.T239A	POU2F2_ENST00000389341.5_Missense_Mutation_p.T223A|POU2F2_ENST00000560398.1_Missense_Mutation_p.T245A|POU2F2_ENST00000342301.4_Missense_Mutation_p.T239A|POU2F2_ENST00000529952.1_Missense_Mutation_p.T239A|POU2F2_ENST00000533720.1_Missense_Mutation_p.T223A|POU2F2_ENST00000529067.1_Missense_Mutation_p.T223A|POU2F2_ENST00000560558.1_Missense_Mutation_p.T184A			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	239	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GAAATGGTCGTCTGGCTGAAG	0.627																																					p.T239A		Atlas-SNP	.											POU2F2_ENST00000292077,NS,lymphoid_neoplasm,0,8	POU2F2	106	8	0			c.A715G						PASS	.						119	118	118					19																	42600030		2203	4300	6503	SO:0001583	missense	5452	exon9			TGGTCGTCTGGCT		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.715A>G	19.37:g.42600030T>C	ENSP00000431603:p.Thr239Ala	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	94	29	0.308511	NM_001207025	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957613	0.73902	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	4.38	2.18	0.27775	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.247967	0.39834	N	0.001250	D	0.91492	0.7314	M	0.88310	2.945	0.52501	D	0.999956	D;P;B	0.76494	0.999;0.953;0.262	D;D;B	0.79784	0.993;0.938;0.37	D	0.89325	0.3643	10	0.87932	D	0	.	6.8485	0.24003	0.15:0.0:0.1568:0.6932	.	223;239;223	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	A	223;239;239;223;238;223;239	ENSP00000373992:T223A;ENSP00000339369:T239A;ENSP00000437221:T223A;ENSP00000437224:T223A;ENSP00000436988:T239A	ENSP00000292077:T239A	T	-	1	0	POU2F2	47291870	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	7.819000	0.86621	0.269000	0.21961	0.454000	0.30748	ACG	.	.	none		0.627	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			C	42600030	T	C	42600030	3	2	24	1	0	0	0	0	1	0	0	0	12272	1667	58	2	748	2	POU2F2	19	42600030	Missense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10	1879951	42600030	16528953	145	21467										
FKRP	79147	hgsc.bcm.edu	37	chr19	47258887	47258887	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	cgggagttcgaggcatttgaCaacgcggtgcccgagctggt	16	10	0	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:47258887C>G	ENST00000318584.5	+	4	477	c.180C>G	c.(178-180)gaC>gaG	p.D60E	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.D60E	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	60					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGGCATTTGACAACGCGGTGC	0.706																																					p.D60E		Atlas-SNP	.											.	FKRP	16	.	0			c.C180G						PASS	.						37	30	32					19																	47258887		2201	4300	6501	SO:0001583	missense	79147	exon4			ATTTGACAACGCG	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.180C>G	19.37:g.47258887C>G	ENSP00000326570:p.Asp60Glu	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	46	26	0.565217	NM_024301	A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	1.655	-0.512864	0.04200	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99277	-5.67;-5.67	4.79	4.79	0.61399	.	0.056531	0.64402	D	0.000002	D	0.92996	0.7771	N	0.01209	-0.955	0.38410	D	0.945893	B	0.20261	0.043	B	0.14023	0.01	D	0.91027	0.4861	10	0.02654	T	1	-33.5211	8.247	0.31695	0.1748:0.6561:0.1691:0.0	.	60	Q9H9S5	FKRP_HUMAN	E	60	ENSP00000375776:D60E;ENSP00000326570:D60E	ENSP00000326570:D60E	D	+	3	2	FKRP	51950727	0.999000	0.42202	1.000000	0.80357	0.801000	0.45260	0.458000	0.21892	2.491000	0.84063	0.555000	0.69702	GAC	.	.	none		0.706	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		G	47258887	C	G	47258887	3	3	24	1	0	0	0	0	1	0	0	0	5917	477	17	4	182	4	FKRP	19	47258887	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	4658857	47258887	11870096	146	21468										
DHX34	9704	hgsc.bcm.edu	37	chr19	47870310	47870310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	caccaccagccagcctggaaAccgccatcctctacctccgg	7	20	1	0	rs200731942		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:47870310A>G	ENST00000328771.4	+	7	2015	c.1666A>G	c.(1666-1668)Acc>Gcc	p.T556A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	556					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T556A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCCTGGAAACCGCCATCCT	0.612																																					p.T556A		Atlas-SNP	.											DHX34,NS,carcinoma,-2,2	DHX34	98	2	1	Substitution - Missense(1)	skin(1)	c.A1666G						scavenged	.						36	38	37					19																	47870310		2203	4287	6490	SO:0001583	missense	9704	exon7			CTGGAAACCGCCA	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1666A>G	19.37:g.47870310A>G	ENSP00000331907:p.Thr556Ala	Somatic	225	9	0.04		WXS	Illumina HiSeq	Phase_I	187	8	0.0427807	NM_014681	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870215	0.17322	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02472	4.28	5.46	5.46	0.80206	Helicase-associated domain (1);	0.000000	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31926	0.97	0.58432	D	0.999997	B	0.33171	0.4	B	0.33196	0.159	T	0.53872	-0.8377	10	0.49607	T	0.09	-21.9691	14.4994	0.67711	1.0:0.0:0.0:0.0	.	556	Q14147	DHX34_HUMAN	A	556;471	ENSP00000331907:T556A	ENSP00000257252:T471A	T	+	1	0	DHX34	52562145	1.000000	0.71417	0.392000	0.26245	0.658000	0.38924	5.824000	0.69279	2.066000	0.61787	0.459000	0.35465	ACC	G|1.000;|0.000	1.000	weak		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		G	47870310	A	G	47870310	3	3	24	1	0	0	0	0	1	0	0	0	4507	43	2	2	1688	2	DHX34	19	47870310	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	611423	47870310	11258673	147	21469										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52888049	52888049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	atagaatgcacacgggagagCaaccttacaaatgtaatgaa	9	7	0	3	rs75346003	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr19:52888049C>A	ENST00000422689.2	+	4	1231	c.1216C>A	c.(1216-1218)Caa>Aaa	p.Q406K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	406					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CACGGGAGAGCAACCTTACAA	0.398																																					p.Q406K		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,2	ZNF880	45	2	0			c.C1216A						scavenged	.						69	63	65					19																	52888049		1568	3582	5150	SO:0001583	missense	400713	exon4			GGAGAGCAACCTT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1216C>A	19.37:g.52888049C>A	ENSP00000406318:p.Gln406Lys	Somatic	50	7	0.14		WXS	Illumina HiSeq	Phase_I	19	8	0.421053	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.634723	0.00114	.	.	ENSG00000221923	ENST00000422689	T	0.10860	2.83	1.84	0.731	0.18277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00128	-2.045	0.20638	N	0.999879	B	0.17667	0.023	B	0.14023	0.01	T	0.46105	-0.9215	8	.	.	.	.	6.7224	0.23338	0.7399:0.2601:0.0:0.0	.	406	Q6PDB4	ZN880_HUMAN	K	406	ENSP00000406318:Q406K	.	Q	+	1	0	ZNF880	57579861	0.006000	0.16342	0.407000	0.26434	0.151000	0.21798	0.708000	0.25719	0.007000	0.14760	-0.493000	0.04662	CAA	C|0.872;A|0.128	0.128	strong		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52888049	C	A	52888049	3	1	24	1	0	0	0	0	1	0	0	0	18194	711	25	4	1230	4	ZNF880	19	52888049	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	5017739	52888049	6240934	148	21470										
PTPRA	5786	hgsc.bcm.edu	37	chr20	3007337	3007337	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccccttcccaattcagaagtTaacatcaatcaaaatccaga	3	13	3	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr20:3007337T>G	ENST00000216877.6	+	17	1992	c.1592T>G	c.(1591-1593)tTa>tGa	p.L531*	PTPRA_ENST00000399903.2_Nonsense_Mutation_p.L540*|PTPRA_ENST00000380393.3_Nonsense_Mutation_p.L540*|PTPRA_ENST00000318266.5_Nonsense_Mutation_p.L531*|PTPRA_ENST00000358719.4_Nonsense_Mutation_p.L396*|PTPRA_ENST00000425918.2_Nonsense_Mutation_p.L551*|PTPRA_ENST00000356147.3_Nonsense_Mutation_p.L531*	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	540					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATTCAGAAGTTAACATCAATC	0.463																																					p.L540X		Atlas-SNP	.											.	PTPRA	75	.	0			c.T1619G						PASS	.						80	64	69					20																	3007337		2203	4300	6503	SO:0001587	stop_gained	5786	exon22			AGAAGTTAACATC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1592T>G	20.37:g.3007337T>G	ENSP00000216877:p.Leu531*	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	80	24	0.3	NM_002836	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Nonsense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	T	38	7.281920	0.98186	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8803	0.79197	0.0:0.0:0.0:1.0	.	.	.	.	X	540;531;540;396;150;551;531;531	.	ENSP00000216877:L531X	L	+	2	0	PTPRA	2955337	1.000000	0.71417	0.993000	0.49108	0.192000	0.23643	7.997000	0.88414	2.203000	0.70933	0.459000	0.35465	TTA	.	.	none		0.463	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	3007337	T	G	3007337	4	3	24	1	0	0	0	0	0	1	0	0	12795	1764	61	5	1677	5	PTPRA	20	3007337	Nonsense_Mutation	SNP	T	TCGA-GR-A4D4-01A-11D-A31X-10		3007337	60018183	149	21471										
SIGLEC1	6614	hgsc.bcm.edu	37	chr20	3679921	3679921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ccgggcccggcagtggtatgAgccggcgtcagtgctggagg	19	11	1	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr20:3679921A>G	ENST00000344754.4	-	7	1713	c.1714T>C	c.(1714-1716)Tca>Cca	p.S572P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S572P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	572	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGTGGTATGAGCCGGCGTCA	0.672																																					p.S572P		Atlas-SNP	.											.	SIGLEC1	210	.	0			c.T1714C						PASS	.						18	17	17					20																	3679921		2202	4296	6498	SO:0001583	missense	6614	exon7			GGTATGAGCCGGC	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1714T>C	20.37:g.3679921A>G	ENSP00000341141:p.Ser572Pro	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	117	5	0.042735	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852055	0.51270	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12672	2.66;2.66	5.46	4.3	0.51218	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.34986	N	0.003523	T	0.24122	0.0584	L	0.39898	1.24	0.37064	D	0.898214	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.994	T	0.05321	-1.0892	10	0.35671	T	0.21	.	8.8204	0.35023	0.8101:0.1899:0.0:0.0	.	572;572	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	572	ENSP00000341141:S572P;ENSP00000202578:S572P	ENSP00000202578:S572P	S	-	1	0	SIGLEC1	3627921	0.258000	0.24033	0.989000	0.46669	0.183000	0.23260	0.313000	0.19415	2.081000	0.62600	0.533000	0.62120	TCA	.	.	none		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		G	3679921	A	G	3679921	3	3	24	1	0	0	0	0	1	0	0	0	14305	304	11	3	3475	3	SIGLEC1	20	3679921	Missense_Mutation	SNP	A	TCGA-GR-A4D4-01A-11D-A31X-10	672584	3679921	59345599	150	21472										
SULF2	55959	hgsc.bcm.edu	37	chr20	46331406	46331406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gtattcattaagatacttccCgaagaaagctgcggagggag	12	7	1	2			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr20:46331406C>T	ENST00000359930.4	-	4	1275	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	SULF2_ENST00000361612.4_Missense_Mutation_p.G142R|SULF2_ENST00000484875.1_Missense_Mutation_p.G142R|SULF2_ENST00000467815.1_Missense_Mutation_p.G142R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	142					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGATACTTCCCGAAGAAAGCT	0.512																																					p.G142R		Atlas-SNP	.											.	SULF2	131	.	0			c.G424A						PASS	.						40	35	37					20																	46331406		2203	4300	6503	SO:0001583	missense	55959	exon4			ACTTCCCGAAGAA	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.424G>A	20.37:g.46331406C>T	ENSP00000353007:p.Gly142Arg	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	52	12	0.230769	NM_001161841	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285132	0.95517	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.99859	-4.83;-4.83;-4.83;-4.83;-7.24	5.08	5.08	0.68730	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	H	0.98833	4.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95859	0.8881	10	0.87932	D	0	-19.458	18.4712	0.90776	0.0:1.0:0.0:0.0	.	142;142;142	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	R	142	ENSP00000353007:G142R;ENSP00000418290:G142R;ENSP00000354662:G142R;ENSP00000418442:G142R;ENSP00000410026:G142R	ENSP00000353007:G142R	G	-	1	0	SULF2	45764813	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.814000	0.86154	2.355000	0.79922	0.561000	0.74099	GGG	.	.	none		0.512	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46331406	C	T	46331406	3	4	24	1	0	0	0	0	1	0	0	0	15370	652	23	1	2260	1	SULF2	20	46331406	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10	42651485	46331406	16694114	151	21473										
DYRK1A	1859	hgsc.bcm.edu	37	chr21	38862627	38862627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgcgcaacagatgtgcactgCactgcttttccttgcgactc	9	13	0	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr21:38862627C>T	ENST00000398960.2	+	6	890	c.815C>T	c.(814-816)gCa>gTa	p.A272V	DYRK1A_ENST00000451934.1_Missense_Mutation_p.A272V|DYRK1A_ENST00000398956.2_Missense_Mutation_p.A272V|DYRK1A_ENST00000321219.8_Missense_Mutation_p.A272V|DYRK1A_ENST00000455387.2_Missense_Mutation_p.A44V|DYRK1A_ENST00000338785.3_Missense_Mutation_p.A272V|DYRK1A_ENST00000339659.4_Missense_Mutation_p.A263V	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATGTGCACTGCACTGCTTTTC	0.428																																					p.A272V	Melanoma(114;464 1602 31203 43785 45765)	Atlas-SNP	.											.	DYRK1A	85	.	0			c.C815T						PASS	.						107	97	100					21																	38862627		2203	4300	6503	SO:0001583	missense	1859	exon6			GCACTGCACTGCT	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.815C>T	21.37:g.38862627C>T	ENSP00000381932:p.Ala272Val	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	142	36	0.253521	NM_001396	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715261	0.96830	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	0.988;0.988;1.0;1.0;0.988	P;P;D;D;P	0.79108	0.683;0.683;0.992;0.968;0.761	T	0.55289	-0.8164	10	0.87932	D	0	.	20.2989	0.98608	0.0:1.0:0.0:0.0	.	272;272;272;263;272	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	V	272;263;272;272;272;272;44	ENSP00000342690:A272V;ENSP00000340373:A263V;ENSP00000319032:A272V;ENSP00000416089:A272V;ENSP00000381932:A272V;ENSP00000381929:A272V;ENSP00000407854:A44V	ENSP00000319032:A272V	A	+	2	0	DYRK1A	37784497	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.741000	0.84997	2.794000	0.96219	0.573000	0.79308	GCA	.	.	none		0.428	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		T	38862627	C	T	38862627	3	4	24	1	0	0	0	0	1	0	0	0	4854	710	25	2	837	2	DYRK1A	21	38862627	Missense_Mutation	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		38862627	9267268	152	21474										
KRTAP10-6	386674	hgsc.bcm.edu	37	chr21	46012160	46012160	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ggctgggctcacaggtcactGggcagcaggggctggacaca	17	11	2	0	rs62220887		TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr21:46012160G>C	ENST00000400368.1	-	1	226	c.206C>G	c.(205-207)cCa>cGa	p.P69R	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	69	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P69R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						ACAGGTCACTGGGCAGCAGGG	0.697																																					p.P69R		Atlas-SNP	.											KRTAP10-6,trunk,malignant_melanoma,0,1	KRTAP10-6	57	1	1	Substitution - Missense(1)	skin(1)	c.C206G						scavenged	.						8	9	8					21																	46012160		1799	3920	5719	SO:0001583	missense	386674	exon1			GTCACTGGGCAGC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.206C>G	21.37:g.46012160G>C	ENSP00000383219:p.Pro69Arg	Somatic	73	22	0.30137		WXS	Illumina HiSeq	Phase_I	77	23	0.298701	NM_198688		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	194	0.08882783882783883	67	0.13617886178861788	26	0.0718232044198895	31	0.05419580419580419	70	0.09234828496042216	t	0.001	-3.563519	0.00008	.	.	ENSG00000188155	ENST00000400368	T	0.00873	5.59	0.427	-0.836	0.10770	.	.	.	.	.	T	0.00012	0.0000	N	0.25426	0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49716	-0.8910	9	0.59425	D	0.04	.	0.1138	0.00058	0.2539:0.2389:0.2542:0.2531	rs62220887	69	P60371	KR106_HUMAN	R	69	ENSP00000383219:P69R	ENSP00000383219:P69R	P	-	2	0	KRTAP10-6	44836588	0.004000	0.15560	0.034000	0.17996	0.004000	0.04260	-0.105000	0.10907	-1.484000	0.01856	-1.228000	0.01579	CCA	G|0.911;C|0.089	0.089	strong		0.697	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46012160	G	C	46012160	3	2	24	1	0	0	0	0	1	0	0	0	8513	1348	47	4	895	4	KRTAP10-6	21	46012160	Missense_Mutation	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	7149533	46012160	2117735	153	21475										
CYTH4	27128	hgsc.bcm.edu	37	chr22	37695333	37695333	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	gagttcgccaacctcaacctCgtccaggccctcaggtgagt	10	15	2	1			TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr22:37695333C>A	ENST00000248901.6	+	6	607	c.420C>A	c.(418-420)ctC>ctA	p.L140L	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.L140L|CYTH4_ENST00000402997.1_Silent_p.L140L	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	140	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.L140L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACCTCAACCTCGTCCAGGCCC	0.662																																					p.L140L		Atlas-SNP	.											CYTH4,NS,carcinoma,0,1	CYTH4	51	1	1	Substitution - coding silent(1)	ovary(1)	c.C420A						scavenged	.						50	45	47					22																	37695333		2203	4300	6503	SO:0001819	synonymous_variant	27128	exon6			CAACCTCGTCCAG	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.420C>A	22.37:g.37695333C>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	181	4	0.0220994	NM_013385	Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	CCDS13946.1																																																																																			.	.	none		0.662	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			A	37695333	C	A	37695333	2	1	24	1	0	0	0	0	0	0	0	1	4206	871	31	4		4	CYTH4	22	37695333	Silent	SNP	C	TCGA-GR-A4D4-01A-11D-A31X-10		37695333	13609233	154	21476										
APOBEC3F	200316	hgsc.bcm.edu	37	chr22	39441197	39441197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	tgcaggctgagtcaggcaggGgcccgcgtgaagattatgga	17	8	1	3	rs200983508	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chr22:39441197G>A	ENST00000308521.5	+	3	780	c.423G>A	c.(421-423)ggG>ggA	p.G141G	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	141					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G141G(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GTCAGGCAGGGGCCCGCGTGA	0.592																																					p.G141G		Atlas-SNP	.											APOBEC3F,NS,carcinoma,0,1	APOBEC3F	37	1	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.G423A						scavenged	.						47	49	48					22																	39441197		2203	4300	6503	SO:0001819	synonymous_variant	200316	exon3			GGCAGGGGCCCGC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.423G>A	22.37:g.39441197G>A		Somatic	99	3	0.030303		WXS	Illumina HiSeq	Phase_I	87	2	0.0229885	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																			G|0.998;A|0.002	0.002	strong		0.592	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39441197	G	A	39441197	2	1	24	1	0	0	0	0	0	0	0	1	793	1219	43	2		2	APOBEC3F	22	39441197	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10	1745864	39441197	11863369	155	21477										
ANKRD58	347454	hgsc.bcm.edu	37	chrX	118892888	118892888	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	8	1	1.12467602109214	2.69118905047049	0.409528768549857	0.208695652173913	0.486890713569943	0	ctgcagcgggcggctcctgcGgggtggctgtcggaggagcg	21	11	0	0	rs2782222	byFrequency	TCGA-GR-A4D4-01A-11D-A31X-10	TCGA-GR-A4D4-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f63ab7f-314f-4c7f-92cc-4f512ca6478e	32dbeee5-dae4-41d3-ac37-873569dcc6a9	g.chrX:118892888G>C	ENST00000343905.3	+	1	313	c.258G>C	c.(256-258)gcG>gcC	p.A86A		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	86																	CGGCTCCTGCGGGGTGGCTGT	0.751													c|||	2295	0.607947	0.4735	0.4841	3775	,	,		7549	0.372		0.495	False		,,,				2504	0.4703				p.A86A		Atlas-SNP	.											.	.	.	.	0			c.G258C						PASS	.			1145,466		378,253,136,67,79	1	2	2		258	2.3	0	X	dbSNP_100	2	2545,1233		737,547,524,198,290	no	coding-synonymous	ANKRD58	NM_001105576.2		1115,800,660,265,369	CC,CG,C,GG,G		32.6363,28.9261,31.5272		86/316	118892888	3690,1699	913	2296	3209	SO:0001819	synonymous_variant	347454	exon1			TCCTGCGGGGTGG		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.258G>C	X.37:g.118892888G>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	11	8	0.727273	NM_001105576		Silent	SNP	ENST00000343905.3	37	CCDS43984.1																																																																																			G|0.401;C|0.599	0.599	strong		0.751	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		C	118892888	G	C	118892888	2	2	24	1	0	0	0	0	0	0	0	1	684	1103	39	4		4	ANKRD58	23	118892888	Silent	SNP	G	TCGA-GR-A4D4-01A-11D-A31X-10		118892888	36377672	156	21478										
CHD5	26038	hgsc.bcm.edu	37	chr1	6196687	6196687	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcaatcttgtagctgtttaaGaccctaaaaaactgagggga	9	7	2	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:6196687G>T	ENST00000262450.3	-	17	2685	c.2586C>A	c.(2584-2586)gtC>gtA	p.V862V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTGTTTAAGACCCTAAAAA	0.602																																					p.V862V		Atlas-SNP	.											.	CHD5	267	.	0			c.C2586A						PASS	.						43	53	50					1																	6196687		2203	4300	6503	SO:0001819	synonymous_variant	26038	exon17			GTTTAAGACCCTA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2586C>A	1.37:g.6196687G>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	7	0.0972222	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																			.	.	none		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6196687	G	T	6196687	2	4	25	1	0	0	0	0	0	0	0	1	3328	929	33	4		4	CHD5	1	6196687	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		6196687	243053934	1	21479										
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000526792.1_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		Atlas-SNP	.											.	RPS6KA1	65	.	0			c.T51G						PASS	.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	7	7	1	NM_002953	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935	0.935	strong		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	25	1	0	0	0	0	0	0	0	1	13650	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	20659775	26856462	222394159	2	21480										
IFI44	10561	hgsc.bcm.edu	37	chr1	79116328	79116328	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttcaggattatgaagtttttCgatgcgaaggtaggtttaat	11	3	1	1	rs556294601		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:79116328C>A	ENST00000370747.4	+	2	533	c.448C>A	c.(448-450)Cga>Aga	p.R150R	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	150					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGAAGTTTTTCGATGCGAAGG	0.333																																					p.R150R		Atlas-SNP	.											IFI44,caecum,carcinoma,0,2	IFI44	55	2	0			c.C448A						scavenged	.						42	44	43					1																	79116328		2201	4291	6492	SO:0001819	synonymous_variant	10561	exon2			GTTTTTCGATGCG	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.448C>A	1.37:g.79116328C>A		Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	217	3	0.0138249	NM_006417	B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	CCDS688.1																																																																																			.	.	none		0.333	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		A	79116328	C	A	79116328	2	1	25	1	0	0	0	0	0	0	0	1	7517	876	31	4		4	IFI44	1	79116328	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	52259866	79116328	170134293	3	21481										
BCAR3	8412	hgsc.bcm.edu	37	chr1	94032925	94032925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aatggttcagcatgatttcaCagctctggtcgtttttttcc	8	9	3	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:94032925C>G	ENST00000370244.1	-	13	2498	c.2210G>C	c.(2209-2211)tGt>tCt	p.C737S	BCAR3_ENST00000370247.3_Missense_Mutation_p.C646S|BCAR3_ENST00000539242.1_Missense_Mutation_p.C413S|BCAR3_ENST00000370243.1_Missense_Mutation_p.C737S|BCAR3_ENST00000260502.6_Missense_Mutation_p.C737S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	737	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATGATTTCACAGCTCTGGTC	0.517																																					p.C737S		Atlas-SNP	.											.	BCAR3	62	.	0			c.G2210C						PASS	.						168	143	152					1																	94032925		2203	4300	6503	SO:0001583	missense	8412	exon11			ATTTCACAGCTCT	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2210G>C	1.37:g.94032925C>G	ENSP00000359264:p.Cys737Ser	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_001261409	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336461	0.95758	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.64404	1.975	0.80722	D	1	P;D	0.69078	0.769;0.997	P;D	0.64877	0.456;0.93	T	0.35126	-0.9801	10	0.56958	D	0.05	-21.5128	20.1577	0.98120	0.0:1.0:0.0:0.0	.	737;646	O75815;Q5TEW3	BCAR3_HUMAN;.	S	646;737;737;737;413	ENSP00000359267:C646S;ENSP00000260502:C737S;ENSP00000359264:C737S;ENSP00000359263:C737S;ENSP00000441343:C413S	ENSP00000260502:C737S	C	-	2	0	BCAR3	93805513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	TGT	.	.	none		0.517	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			G	94032925	C	G	94032925	3	3	25	1	0	0	0	0	1	0	0	0	1349	478	17	4	275	4	BCAR3	1	94032925	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	14916597	94032925	155217696	4	21482										
DNTTIP2	30836	hgsc.bcm.edu	37	chr1	94341909	94341909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gtctgatgaatcttcttcacTtttttcatcctcttcctctt	3	12	7	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:94341909T>C	ENST00000436063.2	-	2	1639	c.1582A>G	c.(1582-1584)Agt>Ggt	p.S528G	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S528G(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		tcttcttcacttttttcatcc	0.368																																					p.S528G		Atlas-SNP	.											DNTTIP2,lymph_node,lymphoid_neoplasm,0,1	DNTTIP2	59	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A1582G						PASS	.						137	120	125					1																	94341909		1856	4045	5901	SO:0001583	missense	30836	exon2			CTTCACTTTTTTC	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1582A>G	1.37:g.94341909T>C	ENSP00000411010:p.Ser528Gly	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	90	7	0.0777778	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341819	0.24339	.	.	ENSG00000067334	ENST00000436063	T	0.17528	2.27	4.36	3.22	0.36961	.	2.882460	0.00834	N	0.001686	T	0.07098	0.0180	L	0.56769	1.78	0.28783	N	0.899718	B	0.29716	0.255	B	0.24394	0.053	T	0.17776	-1.0358	10	0.39692	T	0.17	.	5.0473	0.14490	0.0:0.3543:0.0:0.6457	.	528	Q5QJE6	TDIF2_HUMAN	G	528	ENSP00000411010:S528G	ENSP00000352137:S528G	S	-	1	0	DNTTIP2	94114497	0.172000	0.23043	0.804000	0.32291	0.784000	0.44337	0.933000	0.28897	0.992000	0.38840	0.533000	0.62120	AGT	.	.	none		0.368	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		C	94341909	T	C	94341909	3	2	25	1	0	0	0	0	1	0	0	0	4682	1609	56	3	712	3	DNTTIP2	1	94341909	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	308984	94341909	154908712	5	21483										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tggaggtcctctccgccagtCgcgtccaggtgttgttgtag	14	11	1	0	rs76151115	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q|IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																					p.R680Q		Atlas-SNP	.											.	IGSF3	294	.	0			c.G2039A						PASS	.						69	54	59					1																	117142613		2203	4300	6503	SO:0001583	missense	3321	exon8			GCCAGTCGCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	46	10	0.217391	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA	C|0.967;T|0.033	0.033	strong		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117142613	C	T	117142613	3	4	25	1	0	0	0	0	1	0	0	0	7601	884	31	1	1625	1	IGSF3	1	117142613	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	22800704	117142613	132108008	6	21484										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gtcaccagtctgccgacaggTgcctccattgacacaaggtg	11	13	2	1	rs200464440		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.T235S		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2	348	2	0			c.A703T						scavenged	.						50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GACAGGTGCCTCC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser	Somatic	276	5	0.0181159		WXS	Illumina HiSeq	Phase_I	228	6	0.0263158	NM_001200001	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC	.	.	weak		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	25	1	0	0	0	0	1	0	0	0	10548	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	3397055	120539668	128710953	7	21485										
NBPF15	284565	hgsc.bcm.edu	37	chr1	148579636	148579636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gtgcaaagatctcataaaatTtatgctgaggaatgagcgac	10	6	1	3	rs200012164	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:148579636T>C	ENST00000369187.3	+	6	695	c.206T>C	c.(205-207)tTt>tCt	p.F69S	NBPF15_ENST00000442702.2_Missense_Mutation_p.F69S|NBPF15_ENST00000464336.2_3'UTR	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	69						cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCATAAAATTTATGCTGAGG	0.527																																					p.F69S		Atlas-SNP	.											NBPF15,NS,carcinoma,0,2	NBPF15	20	2	0			c.T206C						scavenged	.						12	18	17					1																	148579636		884	2001	2885	SO:0001583	missense	284565	exon6			TAAAATTTATGCT	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.206T>C	1.37:g.148579636T>C	ENSP00000358188:p.Phe69Ser	Somatic	26	9	0.346154		WXS	Illumina HiSeq	Phase_I	22	10	0.454545	NM_173638	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.454233	0.00173	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.02050	4.48;4.48	0.566	0.566	0.17317	.	.	.	.	.	T	0.00144	0.0004	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	8	0.02654	T	1	.	.	.	.	.	69	Q8N660	NBPFF_HUMAN	S	69	ENSP00000416864:F69S;ENSP00000358188:F69S	ENSP00000358188:F69S	F	+	2	0	NBPF15	146846260	0.001000	0.12720	0.007000	0.13788	0.014000	0.08584	0.004000	0.13106	-0.220000	0.09988	-1.160000	0.01791	TTT	T|0.167;C|0.833	0.833	weak		0.527	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		C	148579636	T	C	148579636	3	2	25	1	0	0	0	0	1	0	0	0	10195	1841	64	2	212	2	NBPF15	1	148579636	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	28039968	148579636	100670985	8	21486										
SDHC	6391	hgsc.bcm.edu	37	chr1	161326591	161326591	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gctaagtttgcacttgtcttCcctctcatgtatcatacctg	6	12	3	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:161326591C>T	ENST00000367975.2	+	5	515	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Silent_p.F69F|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000432287.2_Silent_p.F88F	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	122					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CACTTGTCTTCCCTCTCATGT	0.483			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																												p.F122F		Atlas-SNP	.	yes	Rec		Familial paraganglioma	1	1q21	6391	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"		O	.	SDHC	19	.	0			c.C366T						PASS	.						170	158	162					1																	161326591		2203	4300	6503	SO:0001819	synonymous_variant	6391	exon5	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	TGTCTTCCCTCTC	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.366C>T	1.37:g.161326591C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	83	6	0.0722892	NM_003001	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Silent	SNP	ENST00000367975.2	37	CCDS1230.1																																																																																			.	.	none		0.483	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001		T	161326591	C	T	161326591	2	4	25	1	0	0	0	0	0	0	0	1	13966	854	30	2		2	SDHC	1	161326591	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	12746955	161326591	87924030	9	21487										
CTSE	1510	hgsc.bcm.edu	37	chr1	206329027	206329027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttcaccattaacggagtcccCtataccctcagcccaactgc	5	17	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:206329027C>T	ENST00000360218.2	+	7	955	c.851C>T	c.(850-852)cCt>cTt	p.P284L	CTSE_ENST00000358184.2_Silent_p.P331P|CTSE_ENST00000432969.2_Missense_Mutation_p.P209L|CTSE_ENST00000361052.3_Silent_p.P336P	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACGGAGTCCCCTATACCCTCA	0.527																																					p.P284L		Atlas-SNP	.											.	CTSE	72	.	0			c.C851T						PASS	.						166	135	146					1																	206329027		2203	4300	6503	SO:0001583	missense	1510	exon7			AGTCCCCTATACC	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.851C>T	1.37:g.206329027C>T	ENSP00000353350:p.Pro284Leu	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	113	9	0.079646	NM_148964	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000360218.2	37	CCDS1461.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.910655	0.33721	.	.	ENSG00000196188	ENST00000360218;ENST00000432969	T;T	0.62788	0.67;0.0	5.3	2.21	0.28008	.	0.643045	0.15132	N	0.278775	T	0.44973	0.1319	.	.	.	0.24200	N	0.995516	B;B	0.14438	0.006;0.01	B;B	0.13407	0.004;0.009	T	0.41360	-0.9513	9	0.87932	D	0	.	2.459	0.04537	0.1543:0.4224:0.2816:0.1417	.	209;284	B4DNU8;P14091-2	.;.	L	284;209	ENSP00000353350:P284L;ENSP00000394607:P209L	ENSP00000353350:P284L	P	+	2	0	CTSE	204495650	0.000000	0.05858	0.775000	0.31657	0.173000	0.22820	-0.176000	0.09811	0.717000	0.32145	0.637000	0.83480	CCT	.	.	none		0.527	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	NM_001910		T	206329027	C	T	206329027	3	4	25	1	0	0	0	0	1	0	0	0	4033	681	24	2	1023	2	CTSE	1	206329027	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	45002436	206329027	42921594	10	21488										
CDC42BPA	8476	hgsc.bcm.edu	37	chr1	227279603	227279603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcaccttatcaagttcactcGtcagctttttattttcttca	3	11	6	0	rs56119119		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:227279603G>A	ENST00000366769.3	-	16	3630	c.2339C>T	c.(2338-2340)aCg>aTg	p.T780M	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T780M|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T780M|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T699M|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T780M|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T780M|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T780M	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGTTCACTCGTCAGCTTTTT	0.313																																					p.T780M		Atlas-SNP	.											CDC42BPA_ENST00000366769,NS,carcinoma,0,3	CDC42BPA	528	3	0			c.C2339T						PASS	.	G	MET/THR,MET/THR	0,4402		0,0,2201	182	173	176		2339,2096	5.1	1	1	dbSNP_129	176	4,8588	3.7+/-12.6	0,4,4292	yes	missense,missense	CDC42BPA	NM_003607.3,NM_014826.4	81,81	0,4,6493	AA,AG,GG		0.0466,0.0,0.0308	benign,benign	780/1720,699/1639	227279603	4,12990	2201	4296	6497	SO:0001583	missense	8476	exon16			TCACTCGTCAGCT	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2339C>T	1.37:g.227279603G>A	ENSP00000355731:p.Thr780Met	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	83	5	0.060241	NM_003607		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665839	0.67700	0.0	4.66E-4	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66460	-0.21;0.96;-0.21;-0.19;0.96;-0.19;-0.21	5.09	5.09	0.68999	.	0.054763	0.85682	D	0.000000	T	0.71426	0.3338	N	0.25485	0.75	0.31652	N	0.646716	D;B;D;B;B	0.58620	0.983;0.055;0.976;0.121;0.26	P;B;D;B;B	0.63033	0.73;0.02;0.91;0.065;0.095	T	0.72915	-0.4147	10	0.40728	T	0.16	.	18.855	0.92247	0.0:0.0:1.0:0.0	rs56119119	780;780;699;780;780	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2	.;.;.;.;.	M	780;699;780;780;780;44;780;780	ENSP00000355731:T780M;ENSP00000355729:T699M;ENSP00000335341:T780M;ENSP00000355728:T780M;ENSP00000355726:T780M;ENSP00000443275:T780M;ENSP00000355727:T780M	ENSP00000335341:T780M	T	-	2	0	CDC42BPA	225346226	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.769000	0.91742	2.537000	0.85549	0.557000	0.71058	ACG	G|1.000;A|0.000	0.000	weak		0.313	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		A	227279603	G	A	227279603	3	1	25	1	0	0	0	0	1	0	0	0	3072	1145	40	1	2904	1	CDC42BPA	1	227279603	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	20950576	227279603	21971018	11	21489										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371141	240371141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcccggagcgggcataccccCtcctccccctcttcccggag	9	21	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:240371141C>T	ENST00000319653.9	+	5	3259	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1010	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCCTCCTCCCCCT	0.731																																					p.P1010L		Atlas-SNP	.											FMN2,colon,carcinoma,0,2	FMN2	451	2	0			c.C3029T						scavenged	.						2	3	3					1																	240371141		1609	3382	4991	SO:0001583	missense	56776	exon5			TACCCCCTCCTCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3029C>T	1.37:g.240371141C>T	ENSP00000318884:p.Pro1010Leu	Somatic	91	2	0.021978		WXS	Illumina HiSeq	Phase_I	83	3	0.0361446	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177981	0.21787	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.48	2.52	0.30459	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.346446	0.24843	N	0.035156	T	0.68888	0.3050	M	0.63843	1.955	0.44117	D	0.99689	D	0.63046	0.992	P	0.58172	0.834	T	0.67550	-0.5642	9	.	.	.	.	10.5456	0.45058	0.1936:0.8064:0.0:0.0	.	1010	Q9NZ56	FMN2_HUMAN	L	1010	ENSP00000318884:P1010L	.	P	+	2	0	FMN2	238437764	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.259000	0.18405	0.763000	0.33175	0.479000	0.44913	CCT	.	.	none		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371141	C	T	240371141	3	4	25	1	0	0	0	0	1	0	0	0	5950	681	24	2	3047	2	FMN2	1	240371141	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	13091538	240371141	8879480	12	21490										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371283	240371283	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggcataccccctcctcccccTcttcccggagcgggcatacc	8	21	1	0	rs201761863	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:240371283T>A	ENST00000319653.9	+	5	3401	c.3171T>A	c.(3169-3171)ccT>ccA	p.P1057P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1057	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCCCCTCTTCCCGGAG	0.736																																					p.P1057P		Atlas-SNP	.											FMN2,NS,carcinoma,0,1	FMN2	451	1	0			c.T3171A						scavenged	.						1	1	1					1																	240371283		602	1396	1998	SO:0001819	synonymous_variant	56776	exon5			TCCCCCTCTTCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3171T>A	1.37:g.240371283T>A		Somatic	75	11	0.146667		WXS	Illumina HiSeq	Phase_I	66	8	0.121212	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			T|0.957;A|0.043	0.043	strong		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371283	T	A	240371283	2	1	25	1	0	0	0	0	0	0	0	1	5950	1538	54	5		5	FMN2	1	240371283	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	142	240371283	8879338	13	21491										
OR2T33	391195	hgsc.bcm.edu	37	chr1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gatctgcacaccacagccagCgcgggagatggccttacttc	11	14	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:248436840C>T	ENST00000318021.2	-	1	298	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						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)			CCACAGCCAGCGCGGGAGATG	0.577																																					p.A93T		Atlas-SNP	.											OR2T33,bladder,carcinoma,0,1	OR2T33	133	1	0			c.G277A						scavenged	.																																			SO:0001583	missense	391195	exon1			AGCCAGCGCGGGA		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.277G>A	1.37:g.248436840C>T	ENSP00000324687:p.Ala93Thr	Somatic	616	5	0.00811688		WXS	Illumina HiSeq	Phase_I	496	8	0.016129	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.985	-0.695697	0.03279	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	0.338	0.15974	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	P	0.39250	0.665	B	0.28139	0.086	T	0.43556	-0.9384	10	0.31617	T	0.26	.	2.9908	0.05982	0.0:0.3022:0.2351:0.4627	.	93	Q8NG76	O2T33_HUMAN	T	93	ENSP00000324687:A93T	ENSP00000324687:A93T	A	-	1	0	OR2T33	246503463	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-2.218000	0.01219	0.399000	0.25367	0.494000	0.49563	GCT	.	.	none		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436840	C	T	248436840	3	4	25	1	0	0	0	0	1	0	0	0	11024	768	27	1	688	1	OR2T33	1	248436840	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	8065557	248436840	813781	14	21492										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525427	248525427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cctgtcatcaggctgctggtTcctgggctcagtggatggct	14	11	3	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr1:248525427T>C	ENST00000366475.1	+	1	545	c.545T>C	c.(544-546)tTc>tCc	p.F182S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F182S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			GGCTGCTGGTTCCTGGGCTCA	0.542																																					p.F182S		Atlas-SNP	.											OR2T4,rectum,carcinoma,-1,2	OR2T4	126	2	1	Substitution - Missense(1)	large_intestine(1)	c.T545C						scavenged	.						262	228	240					1																	248525427		2203	4300	6503	SO:0001583	missense	127074	exon1			GCTGGTTCCTGGG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.545T>C	1.37:g.248525427T>C	ENSP00000355431:p.Phe182Ser	Somatic	402	3	0.00746269		WXS	Illumina HiSeq	Phase_I	267	3	0.011236	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297316	0.23650	.	.	ENSG00000196944	ENST00000366475	T	0.37584	1.19	3.61	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.441477	0.19272	N	0.118381	T	0.23492	0.0568	N	0.26042	0.785	0.09310	N	1	B	0.33477	0.413	B	0.35899	0.213	T	0.12915	-1.0529	10	0.54805	T	0.06	.	5.522	0.16938	0.0:0.1104:0.336:0.5537	.	182	Q8NH00	OR2T4_HUMAN	S	182	ENSP00000355431:F182S	ENSP00000355431:F182S	F	+	2	0	OR2T4	246592050	0.001000	0.12720	0.769000	0.31535	0.383000	0.30230	0.454000	0.21827	1.264000	0.44198	0.477000	0.44152	TTC	.	.	none		0.542	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525427	T	C	248525427	3	2	25	1	0	0	0	0	1	0	0	0	11027	1783	62	2	547	2	OR2T4	1	248525427	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	88587	248525427	725194	15	21493										
APOB	338	hgsc.bcm.edu	37	chr2	21239442	21239442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccgaggtcaacatcaaaatcCggaatttggacttcactgga	9	10	3	0	rs200281277	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:21239442C>T	ENST00000233242.1	-	21	3328	c.3201G>A	c.(3199-3201)ccG>ccA	p.P1067P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1067					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCAAAATCCGGAATTTGGA	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		18827	0.002		0.0	False		,,,				2504	0.0				p.P1067P		Atlas-SNP	.											.	APOB	761	.	0			c.G3201A						PASS	.						139	124	129					2																	21239442		2203	4300	6503	SO:0001819	synonymous_variant	338	exon21			AAAATCCGGAATT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3201G>A	2.37:g.21239442C>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	136	12	0.0882353	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			C|1.000;T|0.000	0.000	strong		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21239442	C	T	21239442	2	4	25	1	0	0	0	0	0	0	0	1	785	639	23	1		1	APOB	2	21239442	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10		21239442	221959931	16	21494										
NRXN1	9378	hgsc.bcm.edu	37	chr2	50765586	50765586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gatatctttgctttggccatCgatgaacaaatccctgatgc	8	10	1	2	rs202137841		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:50765586C>T	ENST00000406316.2	-	10	3424	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	NRXN1_ENST00000402717.3_Missense_Mutation_p.D642N|NRXN1_ENST00000404971.1_Missense_Mutation_p.D690N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.D650N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D642N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D650N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	650	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGGCCATCGATGAACAAA	0.512																																					p.D690N		Atlas-SNP	.											.	NRXN1	1118	.	0			c.G2068A						PASS	.						207	221	216					2																	50765586		2198	4299	6497	SO:0001583	missense	9378	exon11			GGCCATCGATGAA	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1948G>A	2.37:g.50765586C>T	ENSP00000384311:p.Asp650Asn	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	110	12	0.109091	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849430	0.91277	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	L	0.38175	1.15	0.50632	D	0.999885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.991	T	0.65265	-0.6210	10	0.22706	T	0.39	.	18.8479	0.92215	0.0:1.0:0.0:0.0	.	690;650;642	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	690;650;642;650;691;642;650	ENSP00000385142:D690N;ENSP00000384311:D650N;ENSP00000434015:D642N;ENSP00000385017:D650N;ENSP00000385434:D642N;ENSP00000385681:D650N	ENSP00000385017:D650N	D	-	1	0	NRXN1	50619090	1.000000	0.71417	0.636000	0.29352	0.971000	0.66376	7.651000	0.83577	2.682000	0.91365	0.585000	0.79938	GAT	.	.	alt		0.512	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50765586	C	T	50765586	3	4	25	1	0	0	0	0	1	0	0	0	10665	884	31	1	2894	1	NRXN1	2	50765586	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	29526144	50765586	192433787	17	21495										
ADRA2B	151	hgsc.bcm.edu	37	chr2	96781704	96781704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agaaagggatgatgagcgtgGccaccaggatgtcggcggcg	18	8	0	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:96781704G>A	ENST00000409345.3	-	1	280	c.185C>T	c.(184-186)gCc>gTc	p.A62V		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	62					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GATGAGCGTGGCCACCAGGAT	0.657																																					p.A62V		Atlas-SNP	.											.	ADRA2B	115	.	0			c.C185T						PASS	.						45	51	49					2																	96781704		2202	4300	6502	SO:0001583	missense	151	exon1			AGCGTGGCCACCA	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.185C>T	2.37:g.96781704G>A	ENSP00000387281:p.Ala62Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	117	9	0.0769231	NM_000682	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.000455	0.93227	.	.	ENSG00000222040	ENST00000409345	T	0.13538	2.58	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48537	0.1505	H	0.95950	3.745	0.54753	D	0.999982	D	0.69078	0.997	D	0.65323	0.934	T	0.66408	-0.5931	9	0.87932	D	0	.	14.755	0.69557	0.0:0.0:1.0:0.0	.	62	P18089	ADA2B_HUMAN	V	62	ENSP00000387281:A62V	ENSP00000387281:A62V	A	-	2	0	ADRA2B	96145431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.654000	0.98509	2.334000	0.79466	0.450000	0.29827	GCC	.	.	none		0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			A	96781704	G	A	96781704	3	1	25	1	0	0	0	0	1	0	0	0	338	1203	42	2	1162	2	ADRA2B	2	96781704	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	46016118	96781704	146417669	18	21496										
CXCR4	7852	hgsc.bcm.edu	37	chr2	136875620	136875620	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttgaaactggacttacactgAtcccctccatggtaaccgct	7	13	0	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:136875620A>C	ENST00000241393.3	-	1	115	c.11T>G	c.(10-12)aTc>aGc	p.I4S	CXCR4_ENST00000409817.1_5'Flank|CXCR4_ENST00000466288.1_5'Flank	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	4	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	ACTTACACTGATCCCCTCCAT	0.557																																					p.I4S		Atlas-SNP	.											.	CXCR4	51	.	0			c.T11G						PASS	.						55	61	59					2																	136875620		1947	4140	6087	SO:0001583	missense	7852	exon1			ACACTGATCCCCT	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.11T>G	2.37:g.136875620A>C	ENSP00000241393:p.Ile4Ser	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	56	5	0.0892857	NM_003467	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476334	0.44044	.	.	ENSG00000121966	ENST00000241393	T	0.60548	0.18	4.14	4.14	0.48551	.	.	.	.	.	T	0.38931	0.1059	N	0.14661	0.345	0.24453	N	0.994476	B	0.14012	0.009	B	0.15484	0.013	T	0.15235	-1.0444	9	0.30854	T	0.27	.	9.8281	0.40925	1.0:0.0:0.0:0.0	.	4	P61073	CXCR4_HUMAN	S	4	ENSP00000241393:I4S	ENSP00000241393:I4S	I	-	2	0	CXCR4	136592090	0.206000	0.23470	0.143000	0.22291	0.767000	0.43475	2.871000	0.48459	2.091000	0.63221	0.455000	0.32223	ATC	.	.	none		0.557	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			C	136875620	A	C	136875620	3	2	25	1	0	0	0	0	1	0	0	0	4093	333	12	5	1082	5	CXCR4	2	136875620	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	40093916	136875620	106323753	19	21497										
STRADB	55437	hgsc.bcm.edu	37	chr2	202344861	202344861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttggactgagccagaatgtgAttttcctgatgaaaaagact	10	6	0	6	rs139900078		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:202344861A>G	ENST00000194530.3	+	12	1585	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	407					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D407G(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAGAATGTGATTTTCCTGAT	0.403																																					p.D407G		Atlas-SNP	.											STRADB,hand,malignant_melanoma,0,1	STRADB	33	1	1	Substitution - Missense(1)	skin(1)	c.A1220G						scavenged	.						140	138	139					2																	202344861		2203	4300	6503	SO:0001583	missense	55437	exon12			AATGTGATTTTCC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1220A>G	2.37:g.202344861A>G	ENSP00000194530:p.Asp407Gly	Somatic	210	2	0.00952381		WXS	Illumina HiSeq	Phase_I	166	4	0.0240964	NM_018571	Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	CCDS2348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.737|4.737	0.137134|0.137134	0.09032|0.09032	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.61510|.	0.1|.	5.55|5.55	-1.4|-1.4	0.08968|0.08968	.|.	1.281530|.	0.04747|.	N|.	0.423931|.	T|.	0.17959|.	0.0431|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.24512|.	-1.0158|.	10|.	0.21014|.	T|.	0.42|.	.|.	1.8647|1.8647	0.03195|0.03195	0.3817:0.2818:0.075:0.2616|0.3817:0.2818:0.075:0.2616	.|.	407|.	Q9C0K7|.	STRAB_HUMAN|.	G|W	407;407;269|77	ENSP00000194530:D407G|.	ENSP00000194530:D407G|.	D|X	+|+	2|3	0|0	STRADB|STRADB	202053106|202053106	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.245000|0.245000	0.25701|0.25701	-0.132000|-0.132000	0.10467|0.10467	0.023000|0.023000	0.15187|0.15187	0.533000|0.533000	0.62120|0.62120	GAT|TGA	.	.	weak		0.403	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		G	202344861	A	G	202344861	3	3	25	1	0	0	0	0	1	0	0	0	15324	333	12	2	1262	2	STRADB	2	202344861	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	65469241	202344861	40854512	20	21498										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982129	240982129	+	Missense_Mutation	SNP	G	G	C													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gaagggccgtgggtgaagagGcatggatgaaggactgtggg					rs112308001	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:240982129G>C	ENST00000408934.1	-	1	270	c.271C>G	c.(271-273)Cct>Gct	p.P91A		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	91	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GGGTGAAGAGGCATGGATGAA	0.622													-|||	793	0.158347	0.1536	0.1182	5008	,	,		14823	0.3155		0.1034	False		,,,				2504	0.0879				p.P91A		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)	c.C271G						scavenged	.	G	ALA/PRO	143,4029		12,119,1955	141	135	137		271	-3.6	0	2	dbSNP_132	137	180,8138		5,170,3984	yes	missense	PRR21	NM_001080835.1	27	17,289,5939	CC,CG,GG		2.164,3.4276,2.5861	benign	91/390	240982129	323,12167	2086	4159	6245	SO:0001583	missense	643905	exon1			GAAGAGGCATGGA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.271C>G	2.37:g.240982129G>C	ENSP00000386166:p.Pro91Ala	Somatic	73	10	0.136986		WXS	Illumina HiSeq	Phase_I	58	8	0.137931	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.857866	0.00003	0.034276	0.02164	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13196	2.61;2.61	1.79	-3.59	0.04583	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18777	-1.0326	9	0.13108	T	0.6	.	1.5465	0.02566	0.2218:0.1637:0.4043:0.2103	.	91	Q8WXC7	PRR21_HUMAN	A	91	ENSP00000386166:P91A;ENSP00000418240:P91A	ENSP00000386166:P91A	P	-	1	0	PRR21	240630802	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.648000	0.00018	-5.464000	0.00014	-4.758000	0.00003	CCT	G|0.996;C|0.004	0.004	strong		0.622	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		C	240982129	G	C	240982129	3	2	25	1	0	0	0	0	1	0	0	0	12592	1203	42	4	901	4	PRR21	2	240982129	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	38637268	240982129	2217244	21	21499	430	2								
PRR21	643905	hgsc.bcm.edu	37	chr2	240982131	240982131	+	Missense_Mutation	SNP	A	A	G													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agggccgtgggtgaagaggcAtggatgaaggactgtgggtg					rs79839275	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr2:240982131A>G	ENST00000408934.1	-	1	268	c.269T>C	c.(268-270)aTg>aCg	p.M90T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	90	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGATGAAGG	0.617													-|||	1342	0.267971	0.3094	0.2378	5008	,	,		13820	0.3591		0.2167	False		,,,				2504	0.1922				p.M90T		Atlas-SNP	.											PRR21,NS,carcinoma,0,2	PRR21	53	2	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)	c.T269C						scavenged	.	A	THR/MET	623,3545		160,303,1621	145	139	141		269	-3.6	0	2	dbSNP_131	141	921,7389		239,443,3473	no	missense	PRR21	NM_001080835.1	81	399,746,5094	GG,GA,AA		11.083,14.9472,12.3738	benign	90/390	240982131	1544,10934	2084	4155	6239	SO:0001583	missense	643905	exon1			AGAGGCATGGATG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.269T>C	2.37:g.240982131A>G	ENSP00000386166:p.Met90Thr	Somatic	73	11	0.150685		WXS	Illumina HiSeq	Phase_I	60	7	0.116667	NM_001080835		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	573	0.2623626373626374	126	0.25609756097560976	81	0.22375690607734808	202	0.3531468531468531	164	0.21635883905013192	-	0.001	-3.069052	0.00036	0.149472	0.11083	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13196	2.61;2.61	1.79	-3.59	0.04583	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.10450	0.005	T	0.48103	-0.9064	8	0.21014	T	0.42	.	6.6332	0.22869	0.1723:0.4441:0.3836:0.0	.	90	Q8WXC7	PRR21_HUMAN	T	90	ENSP00000386166:M90T;ENSP00000418240:M90T	ENSP00000386166:M90T	M	-	2	0	PRR21	240630804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.360000	0.20250	-2.294000	0.00663	-0.489000	0.04712	ATG	A|0.737;G|0.263	0.263	strong		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982131	A	G	240982131	3	3	25	1	0	0	0	0	1	0	0	0	12592	217	8	2	903	2	PRR21	2	240982131	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	2	240982131	2217242	22	21500	430	2								
EXOG	9941	hgsc.bcm.edu	37	chr3	38565705	38565705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aagaaagattgaaggagcccGatcagtgctcagactggaaa	12	7	2	4	rs570781004		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr3:38565705G>T	ENST00000287675.5	+	6	1055	c.959G>T	c.(958-960)cGa>cTa	p.R320L	EXOG_ENST00000422077.2_Missense_Mutation_p.R270L|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	320					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GAAGGAGCCCGATCAGTGCTC	0.423																																					p.R320L		Atlas-SNP	.											EXOG,bladder,carcinoma,+1,2	EXOG	29	2	0			c.G959T						scavenged	.						89	95	93					3																	38565705		2203	4300	6503	SO:0001583	missense	9941	exon6			GAGCCCGATCAGT	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.959G>T	3.37:g.38565705G>T	ENSP00000287675:p.Arg320Leu	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	93	2	0.0215054	NM_005107	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930555	0.52866	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.47869	0.83;0.86	5.54	3.75	0.43078	.	0.437392	0.22739	N	0.056222	T	0.45094	0.1325	M	0.63843	1.955	0.80722	D	1	B;B	0.24186	0.099;0.075	B;B	0.25140	0.058;0.04	T	0.39840	-0.9594	10	0.49607	T	0.09	-0.6957	10.8252	0.46627	0.0718:0.1457:0.7824:0.0	.	270;320	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	L	320;270	ENSP00000287675:R320L;ENSP00000404305:R270L	ENSP00000287675:R320L	R	+	2	0	EXOG	38540709	0.882000	0.30256	0.657000	0.29651	0.995000	0.86356	2.256000	0.43231	0.885000	0.36088	0.655000	0.94253	CGA	.	.	none		0.423	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		T	38565705	G	T	38565705	3	4	25	1	0	0	0	0	1	0	0	0	5312	1058	37	4	981	4	EXOG	3	38565705	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		38565705	159456725	23	21501										
MST1	327	hgsc.bcm.edu	37	chr3	49721622	49721622	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aagtgggcccccgtagtcacCctggcaggtaggagaactga	14	11	1	2	rs200268600		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Splice_Site_p.G673S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																					p.G673S		Atlas-SNP	.											MST1,NS,carcinoma,0,2	MST1	84	2	0			c.G2017A						scavenged	.						19	19	19					3																	49721622		2202	4294	6496	SO:0001628	intergenic_variant	4485	exon18			AGTCACCCTGGCA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T		Somatic	380	7	0.0184211		WXS	Illumina HiSeq	Phase_I	270	17	0.062963	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT	C|0.999;T|0.001	0.001	weak		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			T	49721622	C	T	49721622	1	4	25	0	1	0	0	0	0	0	0	0	9890	637	22	2		2	MST1	3	49721622	IGR	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	11155917	49721622	148300808	24	21502										
PTPRG	5793	hgsc.bcm.edu	37	chr3	62189308	62189308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gagaagagtggggtgacccaCgctgccgaggagcggaatca	17	9	1	3	rs150936656		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr3:62189308C>T	ENST00000474889.1	+	12	2216	c.1839C>T	c.(1837-1839)caC>caT	p.H613H	PTPRG_ENST00000295874.10_Silent_p.H613H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	613					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGTGACCCACGCTGCCGAGG	0.602																																					p.H613H		Atlas-SNP	.											.	PTPRG	153	.	0			c.C1839T						PASS	.	C		0,4346		0,0,2173	87	56	66		1839	-0.8	0	3	dbSNP_134	66	1,8519		0,1,4259	no	coding-synonymous	PTPRG	NM_002841.3		0,1,6432	TT,TC,CC		0.0117,0.0,0.0078		613/1446	62189308	1,12865	2173	4260	6433	SO:0001819	synonymous_variant	5793	exon12			GACCCACGCTGCC	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1839C>T	3.37:g.62189308C>T		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	125	16	0.128	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	CCDS2895.1																																																																																			C|1.000;T|0.000	0.000	weak		0.602	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62189308	C	T	62189308	2	4	25	1	0	0	0	0	0	0	0	1	12802	535	19	1		1	PTPRG	3	62189308	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	12467686	62189308	135833122	25	21503										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389063	1389063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tgcccgcctgctcacgtgccGatgtggagtgcccgcctgct	13	16	1	0	rs148588369	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:1389063G>C	ENST00000324803.4	+	1	3724	c.764G>C	c.(763-765)cGa>cCa	p.R255P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	255					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R255P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACGTGCCGATGTGGAGTG	0.682													g|||	168	0.0335463	0.087	0.013	5008	,	,		12257	0.0169		0.007	False		,,,				2504	0.0204				p.R255P		Atlas-SNP	.											CRIPAK,NS,carcinoma,0,1	CRIPAK	185	1	1	Substitution - Missense(1)	prostate(1)	c.G764C						scavenged	.	C	PRO/ARG	237,4167		9,219,1974	160	142	148		764	-0.2	0	4	dbSNP_134	148	16,8582		2,12,4285	no	missense	CRIPAK	NM_175918.3	103	11,231,6259	CC,CG,GG		0.1861,5.3815,1.9459	probably-damaging	255/447	1389063	253,12749	2202	4299	6501	SO:0001583	missense	285464	exon1			CGTGCCGATGTGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.764G>C	4.37:g.1389063G>C	ENSP00000323978:p.Arg255Pro	Somatic	48	1	0.0208333		WXS	Illumina HiSeq	Phase_I	43	4	0.0930233	NM_175918	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	0.914	-0.718231	0.03182	0.053815	0.001861	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.22743	1.94	0.815	-0.148	0.13424	Post-SET domain (1);	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.34675	-0.9819	9	0.07482	T	0.82	.	4.0747	0.09899	0.0:0.5464:0.2553:0.1983	.	255	Q8N1N5	CRPAK_HUMAN	P	255;197	ENSP00000323978:R255P	ENSP00000323978:R255P	R	+	2	0	CRIPAK	1379063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.274000	0.01163	-1.652000	0.01502	-2.723000	0.00131	CGA	G|0.982;C|0.018	0.018	strong		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1389063	G	C	1389063	3	2	25	1	0	0	0	0	1	0	0	0	3877	1058	37	4	766	4	CRIPAK	4	1389063	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		1389063	189765213	26	21504										
CPZ	8532	hgsc.bcm.edu	37	chr4	8608504	8608504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gacgagcgggaggcagaacgCgcagaacctggatctgaacc	15	11	1	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:8608504C>T	ENST00000360986.4	+	6	1121	c.947C>T	c.(946-948)gCg>gTg	p.A316V	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.A179V|CPZ_ENST00000315782.6_Missense_Mutation_p.A305V	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	316					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGAACGCGCAGAACCTG	0.657																																					p.A316V		Atlas-SNP	.											CPZ,rectum,carcinoma,+1,1	CPZ	95	1	0			c.C947T						PASS	.						70	69	69					4																	8608504		2203	4300	6503	SO:0001583	missense	8532	exon6			AGAACGCGCAGAA	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.947C>T	4.37:g.8608504C>T	ENSP00000354255:p.Ala316Val	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	157	15	0.0955414	NM_001014447	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359187	0.61403	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03920	3.76;3.76;3.76	3.31	3.31	0.37934	Peptidase M14, carboxypeptidase A (2);	0.202783	0.41605	N	0.000853	T	0.08044	0.0201	M	0.85197	2.74	0.80722	D	1	P;B	0.37207	0.587;0.17	B;B	0.23574	0.047;0.013	T	0.14531	-1.0469	10	0.49607	T	0.09	-20.6085	12.9837	0.58579	0.0:1.0:0.0:0.0	.	305;316	Q66K79-2;Q66K79	.;CBPZ_HUMAN	V	316;179;305	ENSP00000354255:A316V;ENSP00000371920:A179V;ENSP00000315074:A305V	ENSP00000315074:A305V	A	+	2	0	CPZ	8659404	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.155000	0.64900	1.672000	0.50884	0.450000	0.29827	GCG	.	.	none		0.657	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8608504	C	T	8608504	3	4	25	1	0	0	0	0	1	0	0	0	3839	768	27	1	969	1	CPZ	4	8608504	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	7219441	8608504	182545772	27	21505										
NCAPG	64151	hgsc.bcm.edu	37	chr4	17829990	17829990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acaggcttaagtgcaaccatGaatggaatcatcgaatcttt	8	8	2	1	rs3795243	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:17829990G>C	ENST00000251496.2	+	12	1919	c.1743G>C	c.(1741-1743)atG>atC	p.M581I		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	581			M -> I (in dbSNP:rs3795243). {ECO:0000269|PubMed:10910072}.		mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTGCAACCATGAATGGAATCA	0.343													G|||	707	0.141174	0.0877	0.1167	5008	,	,		16434	0.1617		0.0905	False		,,,				2504	0.2618				p.M581I		Atlas-SNP	.											.	NCAPG	76	.	0			c.G1743C						PASS	.	G	ILE/MET	389,4017	196.4+/-220.7	17,355,1831	152	143	146		1743	5	1	4	dbSNP_107	146	1138,7462	234.7+/-267.5	74,990,3236	yes	missense	NCAPG	NM_022346.3	10	91,1345,5067	CC,CG,GG		13.2326,8.8289,11.7407	benign	581/1016	17829990	1527,11479	2203	4300	6503	SO:0001583	missense	64151	exon12			AACCATGAATGGA	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1743G>C	4.37:g.17829990G>C	ENSP00000251496:p.Met581Ile	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	76	4	0.0526316	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	228	0.1043956043956044	46	0.09349593495934959	43	0.11878453038674033	70	0.12237762237762238	69	0.09102902374670185	G	1.362	-0.588596	0.03799	0.088289	0.132326	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.37411	1.2;1.2	5.01	5.01	0.66863	Armadillo-type fold (1);	0.095044	0.85682	D	0.000000	T	0.00210	0.0006	N	0.21097	0.63	0.27727	P	0.944946	B	0.15930	0.015	B	0.17979	0.02	T	0.12941	-1.0528	9	0.10377	T	0.69	-20.967	7.9431	0.29969	0.0836:0.0:0.7449:0.1715	rs3795243;rs52790962	581	Q9BPX3	CND3_HUMAN	I	581;146	ENSP00000251496:M581I;ENSP00000425625:M146I	ENSP00000251496:M581I	M	+	3	0	NCAPG	17439088	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.187000	0.50950	2.309000	0.77851	0.585000	0.79938	ATG	G|0.884;C|0.116	0.116	strong		0.343	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		C	17829990	G	C	17829990	3	2	25	1	0	0	0	0	1	0	0	0	10207	1290	45	4	1789	4	NCAPG	4	17829990	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	9221486	17829990	173324286	28	21506										
KDR	3791	hgsc.bcm.edu	37	chr4	55968617	55968617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gtgcatgagacttcgatgctTtccccaatacttgtcgtctg	9	11	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:55968617T>G	ENST00000263923.4	-	14	2341	c.2046A>C	c.(2044-2046)gaA>gaC	p.E682D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	682	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCGATGCTTTCCCCAATAC	0.438			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																											p.E682D		Atlas-SNP	.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	KDR	307	.	0			c.A2046C						PASS	.						191	160	171					4																	55968617		2203	4300	6503	SO:0001583	missense	3791	exon14			GATGCTTTCCCCA	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2046A>C	4.37:g.55968617T>G	ENSP00000263923:p.Glu682Asp	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	111	6	0.0540541	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	4.280	0.051088	0.08243	.	.	ENSG00000128052	ENST00000263923	D	0.82344	-1.6	6.02	0.114	0.14639	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105014	0.64402	D	0.000004	T	0.65616	0.2708	N	0.11364	0.135	0.39576	D	0.969365	B	0.27140	0.169	B	0.36030	0.216	T	0.48833	-0.9000	10	0.09590	T	0.72	.	9.6807	0.40067	0.0:0.3153:0.0:0.6847	.	682	P35968	VGFR2_HUMAN	D	682	ENSP00000263923:E682D	ENSP00000263923:E682D	E	-	3	2	KDR	55663374	1.000000	0.71417	0.988000	0.46212	0.095000	0.18619	0.945000	0.29056	-0.165000	0.10908	0.533000	0.62120	GAA	.	.	none		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			G	55968617	T	G	55968617	3	3	25	1	0	0	0	0	1	0	0	0	8139	1838	64	5	2092	5	KDR	4	55968617	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	38138627	55968617	135185659	29	21507										
TIGD2	166815	hgsc.bcm.edu	37	chr4	90034738	90034738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gtacttctgggtgtaggtcaAgcagagagagaatcatcatt	12	6	4	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:90034738A>G	ENST00000317005.2	+	1	771	c.613A>G	c.(613-615)Agc>Ggc	p.S205G	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	205	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GTGTAGGTCAAGCAGAGAGAG	0.413																																					p.S205G		Atlas-SNP	.											.	TIGD2	36	.	0			c.A613G						PASS	.						74	77	76					4																	90034738		2203	4299	6502	SO:0001583	missense	166815	exon1			AGGTCAAGCAGAG	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.613A>G	4.37:g.90034738A>G	ENSP00000317170:p.Ser205Gly	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	97	7	0.0721649	NM_145715		Missense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	a	4.701	0.130320	0.08981	.	.	ENSG00000180346	ENST00000317005	T	0.41065	1.01	3.97	3.97	0.46021	.	0.000000	0.39083	U	0.001480	T	0.32852	0.0843	L	0.53671	1.685	0.26228	N	0.979052	B	0.16166	0.016	B	0.15052	0.012	T	0.14839	-1.0458	10	0.17832	T	0.49	-3.6072	7.4637	0.27310	0.7792:0.2208:0.0:0.0	.	205	Q4W5G0	TIGD2_HUMAN	G	205	ENSP00000317170:S205G	ENSP00000317170:S205G	S	+	1	0	TIGD2	90253761	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.010000	0.57117	1.682000	0.51000	0.446000	0.29264	AGC	.	.	none		0.413	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		G	90034738	A	G	90034738	3	3	25	1	0	0	0	0	1	0	0	0	15893	72	3	3	615	3	TIGD2	4	90034738	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	34066121	90034738	101119538	30	21508										
KIAA1109	84162	hgsc.bcm.edu	37	chr4	123192383	123192383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcaataagccagcatgtagaTatggctttggttcgtcttat	9	7	2	1	rs45574236	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:123192383T>C	ENST00000264501.4	+	47	8077	c.7704T>C	c.(7702-7704)gaT>gaC	p.D2568D	KIAA1109_ENST00000455637.1_Silent_p.D2568D|KIAA1109_ENST00000388738.3_Silent_p.D2568D			Q2LD37	K1109_HUMAN	KIAA1109	2568					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D2568D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCATGTAGATATGGCTTTGG	0.393													T|||	1369	0.273363	0.0333	0.3026	5008	,	,		20839	0.3611		0.2913	False		,,,				2504	0.4683				p.D2568D		Atlas-SNP	.											KIAA1109,NS,carcinoma,0,1	KIAA1109	424	1	1	Substitution - coding silent(1)	prostate(1)	c.T7704C						scavenged	.	T		307,3525		14,279,1623	193	184	187		7704	0.6	1	4	dbSNP_127	187	2507,5751		375,1757,1997	no	coding-synonymous	KIAA1109	NM_015312.3		389,2036,3620	CC,CT,TT		30.3584,8.0115,23.2754		2568/5006	123192383	2814,9276	1916	4129	6045	SO:0001819	synonymous_variant	84162	exon45			TGTAGATATGGCT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7704T>C	4.37:g.123192383T>C		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	146	2	0.0136986	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	557|557	0.25503663003663|0.25503663003663	22|22	0.044715447154471545|0.044715447154471545	107|107	0.2955801104972376|0.2955801104972376	199|199	0.3479020979020979|0.3479020979020979	229|229	0.3021108179419525|0.3021108179419525	T|T	7.365|7.365	0.625574|0.625574	0.14257|0.14257	0.080115|0.080115	0.303584|0.303584	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000419325	.|.	.|.	.|.	5.82|5.82	0.618|0.618	0.17624|0.17624	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35992|0.35992	-0.9766|-0.9766	3|3	.|.	.|.	.|.	.|.	10.8498|10.8498	0.46763|0.46763	0.0:0.5064:0.0:0.4936|0.0:0.5064:0.0:0.4936	rs45574236|rs45574236	.|.	.|.	.|.	T|H	1141|526	.|.	.|.	I|Y	+|+	2|1	0|0	KIAA1109|KIAA1109	123411833|123411833	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.125000|1.125000	0.31332|0.31332	0.109000|0.109000	0.17891|0.17891	0.383000|0.383000	0.25322|0.25322	ATA|TAT	T|0.716;C|0.284	0.284	strong		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123192383	T	C	123192383	2	2	25	1	0	0	0	0	0	0	0	1	8208	1403	49	2		2	KIAA1109	4	123192383	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	33157645	123192383	67961893	31	21509										
MAML3	55534	hgsc.bcm.edu	37	chr4	140811125	140811125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctgctgctgctgctgctgttGctgttgctgtttctgctgca	12	11	1	0	rs62344940		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:140811125G>T	ENST00000509479.2	-	2	2321	c.1465C>A	c.(1465-1467)Caa>Aaa	p.Q489K	MAML3_ENST00000327122.5_Missense_Mutation_p.Q333K|MAML3_ENST00000398940.1_Missense_Mutation_p.Q28K	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgctgttgctgttgctgt	0.552																																					p.Q489K		Atlas-SNP	.											MAML3_ENST00000509479,colon,carcinoma,+2,2	MAML3	192	2	0			c.C1465A						scavenged	.						17	20	19					4																	140811125		2194	4294	6488	SO:0001583	missense	55534	exon2			GCTGTTGCTGTTG	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1465C>A	4.37:g.140811125G>T	ENSP00000421180:p.Gln489Lys	Somatic	57	5	0.0877193		WXS	Illumina HiSeq	Phase_I	35	3	0.0857143	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	3.000	-0.206260	0.06180	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.76448	0.83;-1.02	2.61	2.61	0.31194	.	0.000000	0.64402	D	0.000001	T	0.66607	0.2806	N	0.08118	0	0.31344	N	0.683255	P	0.43392	0.805	P	0.59424	0.857	T	0.64106	-0.6485	10	0.05436	T	0.98	.	8.8799	0.35367	0.0:0.0:1.0:0.0	rs62344940	489	Q96JK9	MAML3_HUMAN	K	489;333;28	ENSP00000421180:Q489K;ENSP00000313316:Q333K	ENSP00000313316:Q333K	Q	-	1	0	MAML3	141030575	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.291000	0.51764	1.788000	0.52465	0.484000	0.47621	CAA	.	.	weak		0.552	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811125	G	T	140811125	3	4	25	1	0	0	0	0	1	0	0	0	9207	1328	46	4	1959	4	MAML3	4	140811125	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	17618742	140811125	50343151	32	21510										
FRG1	2483	hgsc.bcm.edu	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccatagccattgaaatggatAagggaacctatatacatgca	8	8	0	1	rs112612436		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																					p.K66E		Atlas-SNP	.											FRG1,arm,malignant_melanoma,0,1	FRG1	76	1	1	Substitution - Missense(1)	skin(1)	c.A196G						scavenged	.						101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483	exon3			ATGGATAAGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic	289	22	0.0761246		WXS	Illumina HiSeq	Phase_I	222	28	0.126126	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG	.	.	weak		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	25	1	0	0	0	0	1	0	0	0	6046	363	13	2	206	2	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	50062254	190873379	280897	33	21511										
AHRR	57491	hgsc.bcm.edu	37	chr5	428050	428050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gttctcctcccctccgcagcGgagatgaaaatgaggagcgc	12	13	1	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:428050G>A	ENST00000505113.1	+	8	893	c.849G>A	c.(847-849)gcG>gcA	p.A283A	AHRR_ENST00000506456.1_Silent_p.A139A|AHRR_ENST00000316418.5_Silent_p.A301A|AHRR_ENST00000512529.1_Silent_p.A129A	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTCCGCAGCGGAGATGAAAA	0.617																																					p.A301A		Atlas-SNP	.											AHRR,colon,carcinoma,+1,2	AHRR	67	2	0			c.G903A						scavenged	.						26	31	29					5																	428050		1998	4160	6158	SO:0001819	synonymous_variant	57491	exon9			CGCAGCGGAGATG	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.849G>A	5.37:g.428050G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	75	2	0.0266667	NM_020731	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																			.	.	none		0.617	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		A	428050	G	A	428050	2	1	25	1	0	0	0	0	0	0	0	1	417	1103	39	1		1	AHRR	5	428050	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		428050	180487210	34	21512										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gcgctgcagcggctgcagcgGccgcagcggccgcagcgccc	17	18	0	0	rs144776112|rs201874762		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											MSH3_ENST00000265081,NS,carcinoma,0,1	MSH3	129	1	0			c.G169C						PASS	.						7	7	7					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	47	17	0.361702	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.835;C|0.165	0.165	strong		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950715	G	C	79950715	3	2	25	1	0	0	0	0	1	0	0	0	9871	1203	42	4	171	4	MSH3	5	79950715	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	79522665	79950715	100964545	35	21513										
YTHDC2	64848	hgsc.bcm.edu	37	chr5	112889370	112889370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttgatgacaagcggtttgctGacagtacacataggtaaggg	13	6	0	3	rs75714066	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:112889370G>C	ENST00000161863.4	+	14	2164	c.1951G>C	c.(1951-1953)Gac>Cac	p.D651H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D651H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	651	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCGGTTTGCTGACAGTACACA	0.398													G|||	276	0.0551118	0.0023	0.0331	5008	,	,		15883	0.1002		0.0696	False		,,,				2504	0.0808				p.D651H		Atlas-SNP	.											.	YTHDC2	118	.	0			c.G1951C						PASS	.	G	HIS/ASP	51,4353	50.9+/-86.3	1,49,2152	141	141	141		1951	5.4	1	5	dbSNP_131	141	625,7975	161.9+/-214.7	27,571,3702	yes	missense	YTHDC2	NM_022828.3	81	28,620,5854	CC,CG,GG		7.2674,1.158,5.1984	probably-damaging	651/1431	112889370	676,12328	2202	4300	6502	SO:0001583	missense	64848	exon14			TTTGCTGACAGTA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1951G>C	5.37:g.112889370G>C	ENSP00000161863:p.Asp651His	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	121	0.0554029304029304	2	0.0040650406504065045	15	0.04143646408839779	51	0.08916083916083917	53	0.06992084432717678	G	16.04	3.008921	0.54361	0.01158	0.072674	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.08193	4.09;3.12	5.38	5.38	0.77491	Helicase, C-terminal (2);	0.438726	0.25453	N	0.030576	T	0.00412	0.0013	N	0.22421	0.69	0.58432	D	0.999992	B	0.26483	0.15	B	0.38296	0.27	T	0.45542	-0.9254	10	0.49607	T	0.09	.	19.1064	0.93296	0.0:0.0:1.0:0.0	.	651	Q9H6S0	YTDC2_HUMAN	H	651;651;561	ENSP00000161863:D651H;ENSP00000423101:D651H	ENSP00000161863:D651H	D	+	1	0	YTHDC2	112917269	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	7.088000	0.76901	2.495000	0.84180	0.650000	0.86243	GAC	G|0.944;C|0.056	0.056	strong		0.398	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		C	112889370	G	C	112889370	3	2	25	1	0	0	0	0	1	0	0	0	17494	1290	45	4	2005	4	YTHDC2	5	112889370	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	32938655	112889370	68025890	36	21514										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140186810	140186810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aagcggccaggaatcccggcGtctgctgctcttacttcttc	10	14	3	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:140186810G>A	ENST00000530339.1	+	1	38	c.38G>A	c.(37-39)cGt>cAt	p.R13H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R13H|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R13H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	13					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCCCGGCGTCTGCTGCTC	0.522																																					p.R13H		Atlas-SNP	.											.	PCDHA4	419	.	0			c.G38A						PASS	.						77	86	83					5																	140186810		2203	4300	6503	SO:0001583	missense	56144	exon1			CCCGGCGTCTGCT	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.38G>A	5.37:g.140186810G>A	ENSP00000435300:p.Arg13His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	80	6	0.075	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	9.674	1.147430	0.21288	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52526	0.71;0.66;0.68	4.55	2.63	0.31362	.	0.435566	0.16599	U	0.207426	T	0.37100	0.0991	L	0.60455	1.87	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.10450	0.005;0.004;0.002	T	0.22906	-1.0203	10	0.13470	T	0.59	.	6.4619	0.21960	0.1637:0.1655:0.6708:0.0	.	13;13;13	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	13	ENSP00000423470:R13H;ENSP00000349344:R13H;ENSP00000435300:R13H	ENSP00000349344:R13H	R	+	2	0	PCDHA4	140166994	0.056000	0.20664	0.746000	0.31095	0.800000	0.45204	1.920000	0.40025	0.980000	0.38523	0.467000	0.42956	CGT	.	.	none		0.522	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140186810	G	A	140186810	3	1	25	1	0	0	0	0	1	0	0	0	11526	1145	40	1	40	1	PCDHA4	5	140186810	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	27297440	140186810	40728450	37	21515										
PCDHA12	56137	hgsc.bcm.edu	37	chr5	140257190	140257190	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tgtgcggtgtccagcctgctGgtgctcacgctgctgctgta	14	12	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:140257190G>C	ENST00000398631.2	+	1	2133	c.2133G>C	c.(2131-2133)ctG>ctC	p.L711L	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	711					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCTGCTGGTGCTCACGC	0.677																																					p.L711L	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											.	PCDHA12	196	.	0			c.G2133C						PASS	.						40	39	40					5																	140257190		2203	4300	6503	SO:0001819	synonymous_variant	56137	exon1			CCTGCTGGTGCTC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2133G>C	5.37:g.140257190G>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	95	15	0.157895	NM_018903	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			.	.	none		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		C	140257190	G	C	140257190	2	2	25	1	0	0	0	0	0	0	0	1	11522	1335	47	4		4	PCDHA12	5	140257190	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	70380	140257190	40658070	38	21516										
PCDHGA6	56109	hgsc.bcm.edu	37	chr5	140755640	140755640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctgtcacgctcaccgtggccGtggccgacaggatccccgac	12	17	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr5:140755640G>A	ENST00000517434.1	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.682																																					p.V664M		Atlas-SNP	.											.	PCDHGA6	219	.	0			c.G1990A						PASS	.						22	29	27					5																	140755640		2192	4276	6468	SO:0001583	missense	56109	exon1			GTGGCCGTGGCCG	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1990G>A	5.37:g.140755640G>A	ENSP00000429601:p.Val664Met	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	150	11	0.0733333	NM_018919	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.399613	0.25291	.	.	ENSG00000253731	ENST00000517434	T	0.68181	-0.31	5.02	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.311695	0.16920	N	0.194119	T	0.78027	0.4219	H	0.94698	3.57	0.21147	N	0.999772	D;D	0.65815	0.982;0.995	P;P	0.53146	0.597;0.719	T	0.70992	-0.4721	10	0.72032	D	0.01	.	2.9236	0.05777	0.1869:0.1835:0.5086:0.121	.	664;664	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	M	664	ENSP00000429601:V664M	ENSP00000429601:V664M	V	+	1	0	PCDHGA6	140735824	0.513000	0.26194	0.153000	0.22517	0.120000	0.20174	0.792000	0.26929	0.603000	0.29913	0.563000	0.77884	GTG	.	.	none		0.682	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		A	140755640	G	A	140755640	3	1	25	1	0	0	0	0	1	0	0	0	11558	1145	40	1	1992	1	PCDHGA6	5	140755640	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	498450	140755640	40159620	39	21517										
HIST1H2AC	8334	hgsc.bcm.edu	37	chr6	26124712	26124712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cgcatcatcccgcgccacttGcagctggccatccgcaacga	9	18	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:26124712G>A	ENST00000602637.1	+	1	282	c.252G>A	c.(250-252)ttG>ttA	p.L84L	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Silent_p.L84L			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	84						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGCGCCACTTGCAGCTGGCCA	0.632																																					p.L84L		Atlas-SNP	.											.	HIST1H2AC	29	.	0			c.G252A						PASS	.						107	103	105					6																	26124712		2203	4300	6503	SO:0001819	synonymous_variant	8334	exon1			CCACTTGCAGCTG	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.252G>A	6.37:g.26124712G>A		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	183	12	0.0655738	NM_003512	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Silent	SNP	ENST00000602637.1	37	CCDS4585.1																																																																																			.	.	none		0.632	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		A	26124712	G	A	26124712	2	1	25	1	0	0	0	0	0	0	0	1	7130	1310	46	2		2	HIST1H2AC	6	26124712	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		26124712	144990355	40	21518										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954709	30954709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gcacaccctccagtggggccGgcacagccaccaactctgag	11	17	1	1	rs11756238	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:30954709G>A	ENST00000376296.3	+	2	998	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	253	28 X 15 AA approximate tandem repeats.|Ser-rich.		G -> S (in dbSNP:rs41288655). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G253S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCGGCACAGCCAC	0.637													A|||	193	0.0385383	0.0356	0.062	5008	,	,		20371	0.0208		0.0467	False		,,,				2504	0.0358				p.G253S		Atlas-SNP	.											MUC21,colon,carcinoma,-1,2	MUC21	98	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G757A						scavenged	.						135	138	137					6																	30954709		2203	4300	6503	SO:0001583	missense	394263	exon2			GGGGCCGGCACAG	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.757G>A	6.37:g.30954709G>A	ENSP00000365473:p.Gly253Ser	Somatic	111	4	0.036036		WXS	Illumina HiSeq	Phase_I	106	10	0.0943396	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	1.863	-0.462214	0.04508	.	.	ENSG00000204544	ENST00000376296	T	0.01265	5.08	4.3	1.82	0.25136	.	.	.	.	.	T	0.00210	0.0006	N	0.01576	-0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.18366	-1.0339	8	.	.	.	.	7.3667	0.26776	0.6106:0.0:0.3894:0.0	rs41288655	253	Q5SSG8	MUC21_HUMAN	S	253	ENSP00000365473:G253S	.	G	+	1	0	MUC21	31062688	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.706000	0.05047	-0.001000	0.14495	-0.490000	0.04691	GGC	G|0.989;A|0.011	0.011	strong		0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954709	G	A	30954709	3	1	25	1	0	0	0	0	1	0	0	0	9977	1116	39	1	763	1	MUC21	6	30954709	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	4829997	30954709	140160358	41	21519										
LTA	4049	hgsc.bcm.edu	37	chr6	31541106	31541106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctggagagcaaacacggaccGtgccttcctccaggatggtt	12	12	0	1	rs148093456		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:31541106G>A	ENST00000454783.1	+	4	512	c.254G>A	c.(253-255)cGt>cAt	p.R85H	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.R85H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	85					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AACACGGACCGTGCCTTCCTC	0.562																																					p.R85H		Atlas-SNP	.											.	LTA	18	.	0			c.G254A						PASS	.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	98	83	88		254,254	2.1	0	6	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LTA	NM_000595.2,NM_001159740.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	85/206,85/206	31541106	1,13005	2203	4300	6503	SO:0001583	missense	4049	exon4			CGGACCGTGCCTT	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.254G>A	6.37:g.31541106G>A	ENSP00000403495:p.Arg85His	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_001159740	Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	G	1.401	-0.578112	0.03854	0.0	1.16E-4	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	D;D	0.94613	-3.47;-3.47	5.16	2.13	0.27403	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.498096	0.22853	N	0.054821	T	0.68375	0.2994	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.33198	0.022;0.401;0.007	B;B;B	0.23150	0.007;0.044;0.004	T	0.66114	-0.6004	10	0.38643	T	0.18	-22.6602	5.1779	0.15145	0.514:0.0:0.486:0.0	.	85;85;85	E7ET53;F8WB56;P01374	.;.;TNFB_HUMAN	H	85	ENSP00000403495:R85H;ENSP00000413450:R85H	ENSP00000413450:R85H	R	+	2	0	LTA	31649085	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.082000	0.14847	0.269000	0.21961	-0.140000	0.14226	CGT	G|1.000;A|0.000	0.000	weak		0.562	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			A	31541106	G	A	31541106	3	1	25	1	0	0	0	0	1	0	0	0	9068	1145	40	1	264	1	LTA	6	31541106	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	586397	31541106	139573961	42	21520										
HLA-DMB	3109	hgsc.bcm.edu	37	chr6	32905038	32905038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agggggttaaggctaaatggGagagggtctggtatgtccag	18	4	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:32905038G>A	ENST00000418107.2	-	3	795	c.533C>T	c.(532-534)tCc>tTc	p.S178F	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.S178F|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	178	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCTAAATGGGAGAGGGTCTG	0.557																																					p.S178F		Atlas-SNP	.											.	HLA-DMB	38	.	0			c.C533T						PASS	.						146	111	123					6																	32905038		2203	4300	6503	SO:0001583	missense	3109	exon3			AAATGGGAGAGGG		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.533C>T	6.37:g.32905038G>A	ENSP00000398890:p.Ser178Phe	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	166	11	0.0662651	NM_002118	O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151635	0.38021	.	.	ENSG00000242574	ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244	T;T;T	0.04234	3.67;5.59;5.59	4.56	4.56	0.56223	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.240788	0.29892	N	0.010929	T	0.16041	0.0386	M	0.89287	3.02	0.28561	N	0.911108	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;D;D;D	0.97110	0.983;1.0;0.969;0.994;1.0	T	0.01460	-1.1349	10	0.87932	D	0	.	13.0126	0.58739	0.0:0.0:1.0:0.0	.	178;178;60;67;178	E9PD01;A2AAT3;B0V061;B0V062;P28068	.;.;.;.;DMB_HUMAN	F	60;178;178;178	ENSP00000390848:S60F;ENSP00000398890:S178F;ENSP00000391010:S178F	ENSP00000391010:S178F	S	-	2	0	HLA-DMB	33013016	0.107000	0.21998	0.515000	0.27774	0.121000	0.20230	2.070000	0.41491	2.524000	0.85096	0.494000	0.49563	TCC	.	.	none		0.557	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		A	32905038	G	A	32905038	3	1	25	1	0	0	0	0	1	0	0	0	7199	1174	41	2	274	2	HLA-DMB	6	32905038	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	1363932	32905038	138210029	43	21521										
EFHC1	114327	hgsc.bcm.edu	37	chr6	52344014	52344014	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gacaaccctgtctactatggCcccagtgacttcttcattgg	8	13	3	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:52344014C>G	ENST00000371068.5	+	8	1561	c.1458C>G	c.(1456-1458)ggC>ggG	p.G486G	EFHC1_ENST00000538167.1_Silent_p.G467G|EFHC1_ENST00000433625.2_Silent_p.G395G	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	486	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TCTACTATGGCCCCAGTGACT	0.443																																					p.G486G		Atlas-SNP	.											.	EFHC1	68	.	0			c.C1458G						PASS	.						123	112	115					6																	52344014		2203	4300	6503	SO:0001819	synonymous_variant	114327	exon8			CTATGGCCCCAGT	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1458C>G	6.37:g.52344014C>G		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	CCDS4942.1																																																																																			.	.	none		0.443	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		G	52344014	C	G	52344014	2	3	25	1	0	0	0	0	0	0	0	1	4946	726	26	4		4	EFHC1	6	52344014	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	19438976	52344014	118771053	44	21522										
TMEM30A	55754	hgsc.bcm.edu	37	chr6	75969072	75969072	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	taatgttttacctttaaatcGttcttccaggttgtctcctc	5	10	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:75969072G>A	ENST00000230461.6	-	5	1005	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.R107*|TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.R190*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	226					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R226*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTAAATCGTTCTTCCAGG	0.308																																					p.R226X		Atlas-SNP	.											TMEM30A,caecum,carcinoma,0,2	TMEM30A	40	2	1	Substitution - Nonsense(1)	lung(1)	c.C676T						PASS	.						74	79	77					6																	75969072		2203	4298	6501	SO:0001587	stop_gained	55754	exon5			TAAATCGTTCTTC	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.676C>T	6.37:g.75969072G>A	ENSP00000230461:p.Arg226*	Somatic	392	0	0		WXS	Illumina HiSeq	Phase_I	271	15	0.0553506	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Nonsense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	39	7.311733	0.98203	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.51	2.43	0.29744	.	0.572479	0.17857	N	0.159668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	10.4926	0.44760	0.0:0.1178:0.5054:0.3768	.	.	.	.	X	226;210;107;190	.	ENSP00000230461:R226X	R	-	1	2	TMEM30A	76025792	0.004000	0.15560	1.000000	0.80357	0.933000	0.57130	0.839000	0.27586	0.724000	0.32296	0.655000	0.94253	CGA	.	.	none		0.308	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		A	75969072	G	A	75969072	4	1	25	1	0	0	0	0	0	1	0	0	16150	1153	40	1	421	1	TMEM30A	6	75969072	Nonsense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	23625058	75969072	95145995	45	21523										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138200148	138200148	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttggatcccgggaagtgccaAgcctgcctccaggatgttac	12	12	0	0	rs202233466		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:138200148A>G	ENST00000237289.4	+	7	1632	c.1566A>G	c.(1564-1566)caA>caG	p.Q522Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	522	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAAGTGCCAAGCCTGCCTCC	0.572			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.Q522Q	GBM(130;153 1739 22295 28918 47987)	Atlas-SNP	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	c.A1566G						PASS	.						74	79	77					6																	138200148		2203	4300	6503	SO:0001819	synonymous_variant	7128	exon7			GTGCCAAGCCTGC	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1566A>G	6.37:g.138200148A>G		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	61	4	0.0655738	NM_001270507	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1																																																																																			A|0.999;G|0.001	0.001	weak		0.572	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			G	138200148	A	G	138200148	2	3	25	1	0	0	0	0	0	0	0	1	16271	69	3	3		3	TNFAIP3	6	138200148	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	62231076	138200148	32914919	46	21524										
PHF10	55274	hgsc.bcm.edu	37	chr6	170115902	170115902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tttggcagctttcttaatatActcaggcactttactggctt	7	9	2	0	rs562092150		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr6:170115902A>C	ENST00000339209.4	-	6	718	c.595T>G	c.(595-597)Tat>Gat	p.Y199D	PHF10_ENST00000366780.4_Missense_Mutation_p.Y197D|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	199	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.Y111D(2)|p.Y199D(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTCTTAATATACTCAGGCACT	0.353																																					p.Y199D		Atlas-SNP	.											PHF10_ENST00000339209,NS,carcinoma,0,3	PHF10	76	3	3	Substitution - Missense(3)	lung(2)|prostate(1)	c.T595G						scavenged	.						81	83	82					6																	170115902		2202	4299	6501	SO:0001583	missense	55274	exon6			TAATATACTCAGG	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.595T>G	6.37:g.170115902A>C	ENSP00000341805:p.Tyr199Asp	Somatic	230	2	0.00869565		WXS	Illumina HiSeq	Phase_I	146	4	0.0273973	NM_018288	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691335	0.88735	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	6.06	6.06	0.98353	.	0.107337	0.64402	D	0.000003	T	0.47266	0.1436	M	0.65975	2.015	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.995	P;D;P	0.85130	0.78;0.997;0.741	T	0.50759	-0.8790	10	0.87932	D	0	-18.8351	15.7905	0.78357	1.0:0.0:0.0:0.0	.	111;197;199	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	D	197;199	ENSP00000355743:Y197D;ENSP00000341805:Y199D	ENSP00000341805:Y199D	Y	-	1	0	PHF10	169857827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.676000	0.91199	2.324000	0.78689	0.533000	0.62120	TAT	.	.	none		0.353	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		C	170115902	A	C	170115902	3	2	25	1	0	0	0	0	1	0	0	0	11821	391	14	5	929	5	PHF10	6	170115902	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	31915754	170115902	999165	47	21525										
MUC17	140453	hgsc.bcm.edu	37	chr7	100680438	100680438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcctacaactgctgacggtaGcagcatgccaacctcaactc	7	15	1	1	rs112926140		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr7:100680438G>C	ENST00000306151.4	+	3	5805	c.5741G>C	c.(5740-5742)aGc>aCc	p.S1914T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1914	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)					GCTGACGGTAGCAGCATGCCA	0.493																																					p.S1914T		Atlas-SNP	.											MUC17,right_upper_lobe,carcinoma,+1,1	MUC17	804	1	0			c.G5741C						scavenged	.						249	250	250					7																	100680438		2203	4300	6503	SO:0001583	missense	140453	exon3			ACGGTAGCAGCAT	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.5741G>C	7.37:g.100680438G>C	ENSP00000302716:p.Ser1914Thr	Somatic	71	2	0.028169		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.074	-1.195664	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	1.2251	0.01932	0.1506:0.3181:0.2997:0.2316	.	1914	Q685J3	MUC17_HUMAN	T	1914	ENSP00000302716:S1914T	ENSP00000302716:S1914T	S	+	2	0	MUC17	100467158	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.876000	0.04201	-3.962000	0.00087	-1.848000	0.00571	AGC	A|0.001;G|0.999	.	strong		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680438	G	C	100680438	3	2	25	1	0	0	0	0	1	0	0	0	9974	971	34	4	5751	4	MUC17	7	100680438	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		100680438	58458225	48	21526										
DGKI	9162	hgsc.bcm.edu	37	chr7	137206621	137206621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttccaacttacaagcttctcGgagtttctccttgtcatagt	6	11	3	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr7:137206621G>A	ENST00000288490.5	-	21	2239	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.R768*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.R447*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R747*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	747					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						CAAGCTTCTCGGAGTTTCTCC	0.443																																					p.R747X		Atlas-SNP	.											.	DGKI	335	.	0			c.C2239T						PASS	.						115	98	104					7																	137206621		2203	4300	6503	SO:0001587	stop_gained	9162	exon21			CTTCTCGGAGTTT	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.2239C>T	7.37:g.137206621G>A	ENSP00000288490:p.Arg747*	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_004717	A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	43	9.936638	0.99299	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.77	5.77	0.91146	.	0.060212	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	.	.	.	X	447;695;768;747;747	.	ENSP00000288490:R747X	R	-	1	2	DGKI	136857161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.753000	0.62183	2.885000	0.99019	0.655000	0.94253	CGA	.	.	none		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137206621	G	A	137206621	4	1	25	1	0	0	0	0	0	1	0	0	4471	1124	39	1	1014	1	DGKI	7	137206621	Nonsense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	36526183	137206621	21932042	49	21527										
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22974315	22974315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agctgctgaagagacaatgaAcaccagcccggggactcctg	12	12	0	3	rs61736405		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr8:22974315A>C	ENST00000356864.3	+	5	1083	c.551A>C	c.(550-552)aAc>aCc	p.N184T	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.N82T	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	184					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.N184T(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGACAATGAACACCAGCCCG	0.602																																					p.N184T		Atlas-SNP	.											TNFRSF10C,trunk,malignant_melanoma,0,1	TNFRSF10C	30	1	1	Substitution - Missense(1)	skin(1)	c.A551C						scavenged	.						68	80	76					8																	22974315		2203	4297	6500	SO:0001583	missense	8794	exon5			CAATGAACACCAG	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.551A>C	8.37:g.22974315A>C	ENSP00000349324:p.Asn184Thr	Somatic	124	2	0.016129		WXS	Illumina HiSeq	Phase_I	107	7	0.0654206	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	A	1.881	-0.457883	0.04508	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.62788	0.0;1.25	.	.	.	.	0.568776	0.17737	U	0.163718	T	0.28400	0.0702	N	0.03608	-0.345	0.22213	N	0.999289	P	0.38110	0.618	B	0.33690	0.168	T	0.14924	-1.0455	9	0.37606	T	0.19	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	rs61736405	184	O14798	TR10C_HUMAN	T	184;82;184	ENSP00000349324:N184T;ENSP00000437612:N82T	ENSP00000349324:N184T	N	+	2	0	TNFRSF10C	23030260	0.001000	0.12720	0.054000	0.19295	0.104000	0.19210	0.918000	0.28678	0.077000	0.16863	0.076000	0.15429	AAC	A|0.013;C|0.987	0.987	weak		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			C	22974315	A	C	22974315	3	2	25	1	0	0	0	0	1	0	0	0	16279	43	2	5	569	5	TNFRSF10C	8	22974315	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10		22974315	123389707	50	21528										
DCAF4L2	138009	hgsc.bcm.edu	37	chr8	88886183	88886183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctgcttcctcgagcagtcgcGgtcttttgctctccatttcg	9	14	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr8:88886183G>T	ENST00000319675.3	-	1	113	c.17C>A	c.(16-18)cCg>cAg	p.P6Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	6										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGCAGTCGCGGTCTTTTGCT	0.512																																					p.P6Q		Atlas-SNP	.											DCAF4L2,NS,carcinoma,0,1	DCAF4L2	187	1	0			c.C17A						scavenged	.						44	44	44					8																	88886183		2203	4300	6503	SO:0001583	missense	138009	exon1			AGTCGCGGTCTTT	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.17C>A	8.37:g.88886183G>T	ENSP00000316496:p.Pro6Gln	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	88	3	0.0340909	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.954	-0.011626	0.07727	.	.	ENSG00000176566	ENST00000319675	T	0.60299	0.2	1.39	-2.79	0.05841	.	0.486110	0.21957	N	0.066645	T	0.26122	0.0637	N	0.11427	0.14	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.07309	-1.0779	10	0.24483	T	0.36	.	2.2198	0.03970	0.5561:0.0:0.2011:0.2428	.	6	Q8NA75	DC4L2_HUMAN	Q	6	ENSP00000316496:P6Q	ENSP00000316496:P6Q	P	-	2	0	DCAF4L2	88955299	0.879000	0.30193	0.001000	0.08648	0.014000	0.08584	0.238000	0.18004	-1.064000	0.03172	-0.518000	0.04402	CCG	.	.	none		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		T	88886183	G	T	88886183	3	4	25	1	0	0	0	0	1	0	0	0	4272	1116	39	4	1174	4	DCAF4L2	8	88886183	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	65911868	88886183	57477839	51	21529										
CSMD3	114788	hgsc.bcm.edu	37	chr8	113267635	113267635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tttttccttgggcaggtataCcagggtcaccacaaaacttt	8	10	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr8:113267635C>A	ENST00000297405.5	-	62	10128	c.9884G>T	c.(9883-9885)gGt>gTt	p.G3295V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3225V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3126V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3255V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3295	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGGTATACCAGGGTCACC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G3295V		Atlas-SNP	.											CSMD3_ENST00000343508,caecum,carcinoma,-1,4	CSMD3	2325	4	0			c.G9884T						PASS	.						98	92	94					8																	113267635		2203	4300	6503	SO:0001583	missense	114788	exon62			GGTATACCAGGGT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9884G>T	8.37:g.113267635C>A	ENSP00000297405:p.Gly3295Val	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	91	6	0.0659341	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337760	0.81911	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.80757	0.4684	M	0.84156	2.68	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.355	D;D;B	0.97110	1.0;1.0;0.359	T	0.79895	-0.1610	10	0.34782	T	0.22	.	18.485	0.90825	0.0:1.0:0.0:0.0	.	3126;3295;3255	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3255;3295;2565;3126;3225	ENSP00000345799:G3255V;ENSP00000297405:G3295V;ENSP00000341558:G2565V;ENSP00000412263:G3126V;ENSP00000343124:G3225V	ENSP00000297405:G3295V	G	-	2	0	CSMD3	113336811	1.000000	0.71417	0.991000	0.47740	0.841000	0.47740	7.581000	0.82535	2.601000	0.87937	0.650000	0.86243	GGT	.	.	none		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113267635	C	A	113267635	3	1	25	1	0	0	0	0	1	0	0	0	3946	507	18	4	1279	4	CSMD3	8	113267635	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	24381452	113267635	33096387	52	21530										
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2081900	2081900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggaatcttagccgatgaaatGgggcttggaaagaccataca	12	7	1	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:2081900G>A	ENST00000382203.1	+	15	2462	c.2253G>A	c.(2251-2253)atG>atA	p.M751I	SMARCA2_ENST00000382194.1_Missense_Mutation_p.M751I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M751I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M751I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	751	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		CCGATGAAATGGGGCTTGGAA	0.433																																					p.M751I		Atlas-SNP	.											SMARCA2_ENST00000349721,NS,carcinoma,+2,2	SMARCA2	313	2	0			c.G2253A						PASS	.						217	181	193					9																	2081900		2203	4300	6503	SO:0001583	missense	6595	exon15			TGAAATGGGGCTT	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.2253G>A	9.37:g.2081900G>A	ENSP00000371638:p.Met751Ile	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	92	11	0.119565	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878109	0.72294	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	H	0.99634	4.67	0.80722	D	1	D;P;P	0.89917	1.0;0.908;0.925	D;D;D	0.91635	0.999;0.922;0.954	D	0.99395	1.0926	10	0.87932	D	0	-33.1543	19.1951	0.93684	0.0:0.0:1.0:0.0	.	352;751;751	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	I	751	ENSP00000265773:M751I;ENSP00000349788:M751I;ENSP00000371638:M751I;ENSP00000371629:M751I	ENSP00000265773:M751I	M	+	3	0	SMARCA2	2071900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.552000	0.86080	0.591000	0.81541	ATG	.	.	none		0.433	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2081900	G	A	2081900	3	1	25	1	0	0	0	0	1	0	0	0	14769	1348	47	2	2307	2	SMARCA2	9	2081900	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		2081900	139131531	53	21531										
TLN1	7094	hgsc.bcm.edu	37	chr9	35724043	35724043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acaggccttgtcaaaggagaCagggtgggagccattcagga	15	8	2	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:35724043C>T	ENST00000314888.9	-	7	1041	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	TLN1_ENST00000540444.1_Missense_Mutation_p.V230I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	230	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAAAGGAGACAGGGTGGGAG	0.562																																					p.V230I		Atlas-SNP	.											.	TLN1	185	.	0			c.G688A						PASS	.						157	138	145					9																	35724043		2203	4300	6503	SO:0001583	missense	7094	exon7			AGGAGACAGGGTG	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.688G>A	9.37:g.35724043C>T	ENSP00000316029:p.Val230Ile	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	72	8	0.111111	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380291	0.61845	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.79033	-1.23;-1.23	5.48	5.48	0.80851	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.064498	0.64402	D	0.000009	T	0.76104	0.3941	L	0.50919	1.6	0.80722	D	1	B;B	0.26445	0.149;0.005	B;B	0.28709	0.093;0.086	T	0.73052	-0.4104	10	0.49607	T	0.09	-29.9777	19.387	0.94560	0.0:1.0:0.0:0.0	.	230;230	Q5TCU5;Q9Y490	.;TLN1_HUMAN	I	230	ENSP00000316029:V230I;ENSP00000442981:V230I	ENSP00000316029:V230I	V	-	1	0	TLN1	35714043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.056000	0.71111	2.572000	0.86782	0.655000	0.94253	GTC	.	.	none		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35724043	C	T	35724043	3	4	25	1	0	0	0	0	1	0	0	0	15944	478	17	2	7141	2	TLN1	9	35724043	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	33642143	35724043	105489388	54	21532										
FAM75A3	727830	hgsc.bcm.edu	37	chr9	40702760	40702760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggagcctcccagtcctctcaTgagcctatggaagatgctgc	11	13	1	2	rs192661010	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:40702760T>G	ENST00000356699.5	+	4	446	c.417T>G	c.(415-417)caT>caG	p.H139Q	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	139	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGTCCTCTCATGAGCCTATGG	0.597													T|||	514	0.102636	0.0885	0.1009	5008	,	,		20141	0.003		0.2286	False		,,,				2504	0.0961				p.H139Q		Atlas-SNP	.											FAM75A3_ENST00000356699,NS,carcinoma,+2,2	.	.	2	0			c.T417G						scavenged	.	T	GLN/HIS	382,3416		13,356,1530	53	63	60		417	-3.7	0	9	dbSNP_134	60	1741,6417		82,1577,2420	no	missense	FAM75A3	NM_001083124.1	24	95,1933,3950	GG,GT,TT		21.341,10.0579,17.7568	possibly-damaging	139/1348	40702760	2123,9833	1899	4079	5978	SO:0001583	missense	727830	exon4			CTCTCATGAGCCT			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.417T>G	9.37:g.40702760T>G	ENSP00000349132:p.His139Gln	Somatic	437	1	0.00228833		WXS	Illumina HiSeq	Phase_I	296	5	0.0168919	NM_001083124		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	T	1.786	-0.480697	0.04383	0.100579	0.21341	ENSG00000147926	ENST00000356699	T	0.03889	3.77	1.86	-3.73	0.04398	.	1.943840	0.02631	N	0.104336	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.12013	0.005	B	0.11329	0.006	T	0.45760	-0.9239	9	0.25106	T	0.35	0.3542	0.1983	0.00142	0.2674:0.2166:0.2878:0.2282	.	139	Q5VYP0	F75A3_HUMAN	Q	139	ENSP00000349132:H139Q	ENSP00000349132:H139Q	H	+	3	2	FAM75A3	40692760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.285000	0.02791	-1.013000	0.03383	-0.836000	0.03065	CAT	T|0.744;G|0.256	0.256	strong		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		G	40702760	T	G	40702760	3	3	25	1	0	0	0	0	1	0	0	0	5621	1461	51	5	431	5	FAM75A3	9	40702760	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	4978717	40702760	100510671	55	21533										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73461394	73461394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agttttggctggagttcaaaGttctgcaggcccccatggac	12	10	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:73461394G>A	ENST00000377111.2	-	4	819	c.576C>T	c.(574-576)aaC>aaT	p.N192N	TRPM3_ENST00000361823.5_Silent_p.N39N|TRPM3_ENST00000396285.1_Silent_p.N39N|TRPM3_ENST00000396283.1_Silent_p.N39N|TRPM3_ENST00000360823.2_Silent_p.N39N|TRPM3_ENST00000357533.2_Silent_p.N194N|TRPM3_ENST00000377105.1_Silent_p.N39N|TRPM3_ENST00000377097.3_Silent_p.N39N|TRPM3_ENST00000423814.3_Silent_p.N194N|TRPM3_ENST00000377106.1_Silent_p.N39N|TRPM3_ENST00000396292.4_Silent_p.N39N|TRPM3_ENST00000377101.1_Silent_p.N39N|TRPM3_ENST00000408909.2_Silent_p.N39N|TRPM3_ENST00000396280.5_Silent_p.N39N|TRPM3_ENST00000377110.3_Silent_p.N192N|TRPM3_ENST00000358082.3_Silent_p.N39N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	192					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAGTTCAAAGTTCTGCAGGC	0.483																																					p.N192N		Atlas-SNP	.											.	TRPM3	700	.	0			c.C576T						PASS	.						148	151	150					9																	73461394		2203	4300	6503	SO:0001819	synonymous_variant	80036	exon4			TTCAAAGTTCTGC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.576C>T	9.37:g.73461394G>A		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	128	14	0.109375	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.226|9.226	1.034597|1.034597	0.19590|0.19590	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377097	.|.	.|.	.|.	6.01|6.01	3.19|3.19	0.36642|0.36642	.|.	.|.	.|.	.|.	.|.	T|T	0.57829|0.57829	0.2080|0.2080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52983|0.52983	-0.8502|-0.8502	4|4	.|.	.|.	.|.	-20.7118|-20.7118	8.1451|8.1451	0.31106|0.31106	0.4047:0.0:0.5953:0.0|0.4047:0.0:0.5953:0.0	.|.	.|.	.|.	.|.	F|I	39|82	.|.	.|.	L|T	-|-	1|2	0|0	TRPM3|TRPM3	72651214|72651214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.447000|1.447000	0.35101|0.35101	0.899000|0.899000	0.36444|0.36444	0.650000|0.650000	0.86243|0.86243	CTT|ACT	.	.	none		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73461394	G	A	73461394	2	1	25	1	0	0	0	0	0	0	0	1	16584	1020	36	2		2	TRPM3	9	73461394	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	32758634	73461394	67752037	56	21534										
PALM2	114299	hgsc.bcm.edu	37	chr9	112642863	112642863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cgggagaaatggctgctgcaGggcatacccgctggaactgc	15	11	0	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:112642863G>T	ENST00000374531.2	+	4	239	c.165G>T	c.(163-165)caG>caT	p.Q55H	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q53H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q53H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q53H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q53H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q53H|PALM2_ENST00000448454.2_Missense_Mutation_p.Q55H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q53H	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	55					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GGCTGCTGCAGGGCATACCCG	0.517																																					p.Q55H		Atlas-SNP	.											.	PALM2	51	.	0			c.G165T						PASS	.						97	84	89					9																	112642863		2203	4300	6503	SO:0001583	missense	114299	exon4			GCTGCAGGGCATA	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.165G>T	9.37:g.112642863G>T	ENSP00000363656:p.Gln55His	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_001037293	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674599	0.67928	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.32515	1.82;1.84;1.81;1.84;1.45;2.09;1.81;2.09;2.09;2.09	5.36	3.09	0.35607	.	0.639479	0.14359	N	0.324569	T	0.43122	0.1233	L	0.40543	1.245	0.30980	N	0.722632	D;D;D;D	0.89917	0.997;0.997;0.995;1.0	D;D;D;D	0.83275	0.995;0.995;0.99;0.996	T	0.41822	-0.9487	10	0.87932	D	0	-11.3524	8.4766	0.33016	0.2302:0.0:0.7698:0.0	.	53;53;55;55	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	H	55;55;53;53;39;53;53;53;53;53	ENSP00000363656:Q55H;ENSP00000400206:Q55H;ENSP00000417525:Q53H;ENSP00000323805:Q53H;ENSP00000419747:Q39H;ENSP00000363654:Q53H;ENSP00000397839:Q53H;ENSP00000305861:Q53H;ENSP00000451476:Q53H;ENSP00000421522:Q53H	ENSP00000305861:Q53H	Q	+	3	2	PALM2-AKAP2;PALM2;AKAP2	111682684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.503000	0.22610	1.390000	0.46547	0.650000	0.86243	CAG	.	.	none		0.517	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		T	112642863	G	T	112642863	3	4	25	1	0	0	0	0	1	0	0	0	11409	991	35	4	179	4	PALM2	9	112642863	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	39181469	112642863	28570568	57	21535										
PAPPA	5069	hgsc.bcm.edu	37	chr9	118989774	118989774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tggtgcagtatgcttccaacGcttcctccccaatgccctgc	8	16	0	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr9:118989774G>A	ENST00000328252.3	+	6	2545	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	726					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCTTCCAACGCTTCCTCCCC	0.542																																					p.A726T		Atlas-SNP	.											PAPPA,NS,carcinoma,-2,1	PAPPA	243	1	0			c.G2176A						PASS	.						152	131	138					9																	118989774		2203	4300	6503	SO:0001583	missense	5069	exon6			TCCAACGCTTCCT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2176G>A	9.37:g.118989774G>A	ENSP00000330658:p.Ala726Thr	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	41	7	0.170732	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254603	0.95336	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.03004	4.08	5.85	5.85	0.93711	.	0.047663	0.85682	D	0.000000	T	0.18341	0.0440	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.62089	0.898;0.592	T	0.00015	-1.2398	10	0.87932	D	0	-25.4983	20.1624	0.98139	0.0:0.0:1.0:0.0	.	170;726	E7EMD3;Q13219	.;PAPP1_HUMAN	T	726;170	ENSP00000330658:A726T	ENSP00000330658:A726T	A	+	1	0	PAPPA	118029595	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	7.400000	0.79949	2.764000	0.94973	0.591000	0.81541	GCT	.	.	none		0.542	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	118989774	G	A	118989774	3	1	25	1	0	0	0	0	1	0	0	0	11432	1087	38	1	2198	1	PAPPA	9	118989774	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	6346911	118989774	22223657	58	21536										
AKR1C4	1109	hgsc.bcm.edu	37	chr10	5248268	5248268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agtgtaaggatgcaggattgGccaagtccatcggggtgtca	15	7	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr10:5248268G>A	ENST00000380448.1	+	7	731	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	160					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TGCAGGATTGGCCAAGTCCAT	0.493																																					p.A160T		Atlas-SNP	.											.	AKR1C4	57	.	0			c.G478A						PASS	.						160	140	147					10																	5248268		2203	4300	6503	SO:0001583	missense	1109	exon5			GGATTGGCCAAGT	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.478G>A	10.37:g.5248268G>A	ENSP00000369814:p.Ala160Thr	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	143	11	0.0769231	NM_001818	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	5.716	0.316610	0.10845	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.52754	0.65;0.65	3.16	1.2	0.21068	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.432537	0.20662	N	0.088006	T	0.23649	0.0572	N	0.11201	0.11	0.33351	D	0.571106	B	0.12013	0.005	B	0.18263	0.021	T	0.15896	-1.0421	10	0.25106	T	0.35	.	6.7199	0.23325	0.2549:0.0:0.7451:0.0	.	160	P17516	AK1C4_HUMAN	T	160	ENSP00000369814:A160T;ENSP00000263126:A160T	ENSP00000263126:A160T	A	+	1	0	AKR1C4	5238268	0.194000	0.23325	0.735000	0.30896	0.146000	0.21551	0.134000	0.15932	0.019000	0.15079	0.313000	0.20887	GCC	.	.	none		0.493	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		A	5248268	G	A	5248268	3	1	25	1	0	0	0	0	1	0	0	0	472	1203	42	2	496	2	AKR1C4	10	5248268	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		5248268	130286479	59	21537										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	5	0	2	rs76607193	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X		Atlas-SNP	.											CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	67	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T						scavenged	.						191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	146	5	0.0342466	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	C|0.997;T|0.003	0.003	strong		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	25	1	0	0	0	0	0	1	0	0	3939	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	38411104	43659372	91875375	60	21538										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	15	3	2	4	rs79064394		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		Atlas-SNP	.											CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	67	5	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						scavenged	.						223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	156	4	0.025641	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.	.	weak		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659419	G	T	43659419	3	4	25	1	0	0	0	0	1	0	0	0	3939	1281	45	4	1100	4	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	47	43659419	91875328	61	21539										
FAM21A	387680	hgsc.bcm.edu	37	chr10	51863831	51863831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcttctcaaagtgcgagtaaGttaaaaggtgcgtctctgct	10	8	3	0	rs201489423	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr10:51863831G>C	ENST00000282633.5	+	18	1710	c.1665G>C	c.(1663-1665)aaG>aaC	p.K555N	FAM21A_ENST00000314664.7_Missense_Mutation_p.K555N|FAM21A_ENST00000399339.2_Missense_Mutation_p.K467N|FAM21A_ENST00000351071.6_Missense_Mutation_p.K555N	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	555					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K555N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GTGCGAGTAAGTTAAAAGGTG	0.373																																					p.K555N		Atlas-SNP	.											FAM21A,NS,carcinoma,0,1	FAM21A	32	1	1	Substitution - Missense(1)	prostate(1)	c.G1665C						scavenged	.																																			SO:0001583	missense	387680	exon18			GAGTAAGTTAAAA	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1665G>C	10.37:g.51863831G>C	ENSP00000282633:p.Lys555Asn	Somatic	500	10	0.02		WXS	Illumina HiSeq	Phase_I	384	13	0.0338542	NM_001005751	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	C	6.739	0.505070	0.12822	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.2	3.2	0.36748	.	0.179758	0.47455	D	0.000237	T	0.75766	0.3894	M	0.77616	2.38	0.38837	D	0.955976	B;B;D;B;B	0.69078	0.008;0.01;0.997;0.049;0.028	B;B;D;B;B	0.80764	0.016;0.019;0.994;0.079;0.017	T	0.78021	-0.2367	9	0.48119	T	0.1	-3.197	10.2638	0.43443	0.0:0.0:1.0:0.0	.	555;555;467;555;449	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	N	555;555;449;555;467	.	ENSP00000282633:K555N	K	+	3	2	FAM21A	51533837	0.997000	0.39634	0.828000	0.32881	0.253000	0.25986	3.117000	0.50407	1.510000	0.48803	0.184000	0.17185	AAG	.	.	weak		0.373	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		C	51863831	G	C	51863831	3	2	25	1	0	0	0	0	1	0	0	0	5540	1020	36	4	1735	4	FAM21A	10	51863831	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	8204412	51863831	83670916	62	21540										
CDH23	64072	hgsc.bcm.edu	37	chr10	73537483	73537483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tgtggatgagaatgataacgCgcccatgttccagcagcccc	11	12	0	2	rs370762269	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr10:73537483C>T	ENST00000224721.6	+	38	4912	c.4907C>T	c.(4906-4908)gCg>gTg	p.A1636V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1631	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATGATAACGCGCCCATGTTC	0.587													C|||	5	0.000998403	0.0	0.0	5008	,	,		20989	0.0		0.0	False		,,,				2504	0.0051				p.A1631V		Atlas-SNP	.											.	CDH23	365	.	0			c.C4892T						PASS	.	C	VAL/ALA	0,4192		0,0,2096	52	54	53		4892	5.8	0	10		53	3,8429		0,3,4213	no	missense	CDH23	NM_022124.5	64	0,3,6309	TT,TC,CC		0.0356,0.0,0.0238	benign	1631/3355	73537483	3,12621	2096	4216	6312	SO:0001583	missense	64072	exon37			ATAACGCGCCCAT	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4907C>T	10.37:g.73537483C>T	ENSP00000224721:p.Ala1636Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	69	6	0.0869565	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	15.30	2.791860	0.50102	0.0	3.56E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.75	5.75	0.90469	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.119943	0.56097	D	0.000029	T	0.66187	0.2764	L	0.58510	1.815	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.59883	-0.7370	9	0.37606	T	0.19	.	19.938	0.97149	0.0:1.0:0.0:0.0	.	1631	Q9H251	CAD23_HUMAN	V	1636;1631;1634	.	ENSP00000224721:A1636V	A	+	2	0	CDH23	73207489	0.989000	0.36119	0.034000	0.17996	0.188000	0.23474	4.843000	0.62838	2.732000	0.93576	0.650000	0.86243	GCG	.	.	none		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73537483	C	T	73537483	3	4	25	1	0	0	0	0	1	0	0	0	3108	768	27	1	5387	1	CDH23	10	73537483	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	21673652	73537483	61997264	63	21541										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017440	1017632	+	Frame_Shift_Del	DEL	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	-													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggtagcctgctgctggtggcCgacgtggtgtgggccacagg					rs569940344|rs529918366|rs200644196|rs564856663|rs76886285|rs75533660|rs201522029|rs201325807|rs35868469|rs201812614|rs76707565|rs202040290|rs201376676|rs201054567|rs575890149|rs77815355|rs558521321|rs78729877|rs77216712|rs112313736|rs111641154|rs201198887|rs199592093|rs80266715|rs79986665|rs542420852|rs200995870|rs202206004|rs557325875|rs111594665|rs536994070|rs534774807|rs112553306|rs79037833|rs372353242|rs112874139|rs112510411|rs76222533|rs201997835|rs199869567	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:1017440_1017632delCGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	ENST00000421673.2	-	31	5219_5411	c.5169_5361delCCCACCAATGACAGTGACCACCAGTGGGACCAGCCAATCCCGAAGCTCATTTAGCACGGCCAAAACCTCTACATCCCTACATTCACACACTTCCTCCACACACCATCCTGAAGTCACCTCAACTTCTACCACCAGCATCACCCCCAACCACACCAGTACAGGCACCAGAACCCCTGTGGCCCACACCACGTCG	c.(5167-5361)accccaccaatgacagtgaccaccagtgggaccagccaatcccgaagctcatttagcacggccaaaacctctacatccctacattcacacacttcctccacacaccatcctgaagtcacctcaacttctaccaccagcatcacccccaaccacaccagtacaggcaccagaacccctgtggcccacaccacgtcgfs	p.TPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTS1723fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1723	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1745A(2)|p.T1729T(2)|p.Q1735H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTGGCCGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGGGTTCCTGTAC	0.562																																					p.1724_1788del		Pindel	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	5	Substitution - Missense(3)|Substitution - coding silent(2)	kidney(4)|prostate(1)	c.5170_5362del						PASS	.																																			SO:0001589	frameshift_variant	4588	exon31			.	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5169_5361delCCCACCAATGACAGTGACCACCAGTGGGACCAGCCAATCCCGAAGCTCATTTAGCACGGCCAAAACCTCTACATCCCTACATTCACACACTTCCTCCACACACCATCCTGAAGTCACCTCAACTTCTACCACCAGCATCACCCCCAACCACACCAGTACAGGCACCAGAACCCCTGTGGCCCACACCACGTCG	11.37:g.1017440_1017632delCGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	ENSP00000406861:p.Thr1723fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		-	1017632	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	-	1017440	7	5	25	1	0	1	0	1	0	0	0	0	9980	639	23	0	1970	0	MUC6	11	1017440	Frame_Shift_Del	DEL	CGACGTGGTGTGGGCCACAGGGGTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTCCCACTGGTGGTCACTGTCATTGGTGGG	TCGA-GR-A4D5-01A-11D-A31X-10		1017440	133989076	64	21542										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264581	1264581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcaactcctgggacaactccCatccccccagtgctgaccac	6	19	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:1264581C>T	ENST00000529681.1	+	31	6529	c.6471C>T	c.(6469-6471)ccC>ccT	p.P2157P	MUC5B_ENST00000447027.1_Silent_p.P2160P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2157	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ggacaactcccatccccccag	0.647																																					p.P2157P		Atlas-SNP	.											MUC5B,NS,carcinoma,+1,2	MUC5B	473	2	0			c.C6471T						scavenged	.						105	136	126					11																	1264581		2094	4146	6240	SO:0001819	synonymous_variant	727897	exon31			AACTCCCATCCCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6471C>T	11.37:g.1264581C>T		Somatic	428	2	0.0046729		WXS	Illumina HiSeq	Phase_I	463	8	0.0172786	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	none		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1264581	C	T	1264581	2	4	25	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC5B	11	1264581	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	247141	1264581	133741935	65	21543										
SMPD1	6609	hgsc.bcm.edu	37	chr11	6412880	6412880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aaaccccctagccccccagcCccaggtgcccctgtcagccg	8	22	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:6412880C>T	ENST00000342245.4	+	2	753	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SMPD1_ENST00000356761.2_Silent_p.A195A|SMPD1_ENST00000299397.3_Silent_p.A195A|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Silent_p.A194A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	193					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GCCCCCCAGCCCCAGGTGCCC	0.617																																					p.A195A		Atlas-SNP	.											.	SMPD1	108	.	0			c.C585T						PASS	.						6	6	6					11																	6412880		2114	4096	6210	SO:0001819	synonymous_variant	6609	exon2			CCCAGCCCCAGGT	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.585C>T	11.37:g.6412880C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	36	13	0.361111	NM_000543	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	CCDS44531.1																																																																																			.	.	none		0.617	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6412880	C	T	6412880	2	4	25	1	0	0	0	0	0	0	0	1	14804	610	22	2		2	SMPD1	11	6412880	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	5148299	6412880	128593636	66	21544										
DGKZ	8525	hgsc.bcm.edu	37	chr11	46387868	46387868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aggccctggagaggggcagcAgcggcccagcagcgtggggc	20	12	0	1	rs1317826	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:46387868A>G	ENST00000454345.1	+	2	187	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	21			Q -> R (in dbSNP:rs1317826). {ECO:0000269|PubMed:9159104}.		blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGGGGCAGCAGCGGCCCAGC	0.701													G|||	2181	0.435503	0.9107	0.2493	5008	,	,		13838	0.1458		0.3111	False		,,,				2504	0.3517				p.Q21R		Atlas-SNP	.											.	DGKZ	199	.	0			c.A62G						PASS	.	G	ARG/GLN,,,,,,	2682,930		1027,628,151	8	9	9		62,,,,,,	4.5	1	11	dbSNP_88	9	2229,5713		386,1457,2128	yes	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	43,,,,,,	1413,2085,2279	GG,GA,AA		28.066,25.7475,42.5048	benign,,,,,,	21/1118,,,,,,	46387868	4911,6643	1806	3971	5777	SO:0001583	missense	8525	exon2			GGCAGCAGCGGCC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.62A>G	11.37:g.46387868A>G	ENSP00000412178:p.Gln21Arg	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	17	7	0.411765	NM_001105540	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	872	0.3992673992673993	446	0.9065040650406504	95	0.26243093922651933	97	0.16958041958041958	234	0.3087071240105541	G	2.360	-0.346808	0.05208	0.742525	0.28066	ENSG00000149091	ENST00000454345	T	0.64260	-0.09	4.53	4.53	0.55603	.	0.291635	0.22594	N	0.058046	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	9	0.02654	T	1	.	13.0604	0.59003	0.0784:0.0:0.9216:0.0	rs1317826	21	Q13574	DGKZ_HUMAN	R	21	ENSP00000412178:Q21R	ENSP00000412178:Q21R	Q	+	2	0	DGKZ	46344444	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	3.832000	0.55783	1.049000	0.40321	-0.213000	0.12676	CAG	A|0.609;G|0.391	0.391	strong		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		G	46387868	A	G	46387868	3	3	25	1	0	0	0	0	1	0	0	0	4474	188	7	3	508	3	DGKZ	11	46387868	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	39974988	46387868	88618648	67	21545										
OR9Q2	219957	hgsc.bcm.edu	37	chr11	57958226	57958226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctggctgtgctgtgggagcaCggcacaaccatctcccaggc	13	14	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:57958226C>T	ENST00000311591.3	+	1	321	c.264C>T	c.(262-264)caC>caT	p.H88H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGTGGGAGCACGGCACAACCA	0.567																																					p.H88H		Atlas-SNP	.											OR9Q2,NS,carcinoma,+2,1	OR9Q2	78	1	0			c.C264T						scavenged	.						182	132	149					11																	57958226		2201	4296	6497	SO:0001819	synonymous_variant	219957	exon1			GGAGCACGGCACA	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.264C>T	11.37:g.57958226C>T		Somatic	58	1	0.0172414		WXS	Illumina HiSeq	Phase_I	52	12	0.230769	NM_001005283		Silent	SNP	ENST00000311591.3	37	CCDS31544.1																																																																																			.	.	none		0.567	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		T	57958226	C	T	57958226	2	4	25	1	0	0	0	0	0	0	0	1	11256	535	19	1		1	OR9Q2	11	57958226	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	11570358	57958226	77048290	68	21546										
PHLDB1	23187	hgsc.bcm.edu	37	chr11	118526582	118526582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cttcccagaagaggtttttcCgcttcactatggtgactgag	10	10	1	4	rs149980232		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr11:118526582C>T	ENST00000361417.2	+	23	4384	c.3973C>T	c.(3973-3975)Cgc>Tgc	p.R1325C	PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000524713.1_Intron|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGGTTTTTCCGCTTCACTAT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18829	0.001		0.0	False		,,,				2504	0.0				p.R1325C		Atlas-SNP	.											.	PHLDB1	103	.	0			c.C3973T						PASS	.						189	178	182					11																	118526582		2200	4295	6495	SO:0001583	missense	23187	exon22			TTTTTCCGCTTCA		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3973C>T	11.37:g.118526582C>T	ENSP00000354498:p.Arg1325Cys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.88	2.070482	0.36566	.	.	ENSG00000019144	ENST00000361417	T	0.31510	1.49	5.25	1.91	0.25777	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.745951	0.12817	N	0.436765	T	0.14960	0.0361	N	0.02916	-0.46	0.80722	D	1	B	0.31968	0.349	B	0.32022	0.139	T	0.10337	-1.0634	10	0.54805	T	0.06	1.0934	12.4647	0.55751	0.5992:0.4008:0.0:0.0	.	1325	Q86UU1	PHLB1_HUMAN	C	1325	ENSP00000354498:R1325C	ENSP00000354498:R1325C	R	+	1	0	PHLDB1	118031792	0.944000	0.32072	0.991000	0.47740	0.999000	0.98932	0.095000	0.15127	0.211000	0.20683	0.650000	0.86243	CGC	C|1.000;T|0.000	0.000	strong		0.542	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118526582	C	T	118526582	3	4	25	1	0	0	0	0	1	0	0	0	11851	652	23	1	4055	1	PHLDB1	11	118526582	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	60568356	118526582	16479934	69	21547										
PEX5	5830	hgsc.bcm.edu	37	chr12	7343151	7343151	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttgaggtggaaagcccaggtGcagcctctgaggcagtgagt	16	8	1	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:7343151G>C	ENST00000455147.2	+	3	727				RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000266564.3_Intron|PEX5_ENST00000266563.5_Intron|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000434354.2_Missense_Mutation_p.A60P|PEX5_ENST00000412720.2_Intron|PEX5_ENST00000420616.2_Intron|PEX5_ENST00000545220.1_Intron	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAGCCCAGGTGCAGCCTCTGA	0.632																																					p.A60P		Atlas-SNP	.											PEX5_ENST00000434354,colon,carcinoma,-2,3	PEX5	63	3	0			c.G178C						scavenged	.						10	12	12					12																	7343151		2163	4228	6391	SO:0001627	intron_variant	5830	exon2			CCAGGTGCAGCCT	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+31G>C	12.37:g.7343151G>C		Somatic	37	2	0.0540541		WXS	Illumina HiSeq	Phase_I	43	9	0.209302	NM_001131023	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160424	0.09287	.	.	ENSG00000139197	ENST00000434354;ENST00000396637	D;D	0.87650	-2.28;-2.1	.	.	.	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.09310	N	0.999999	P	0.42993	0.797	B	0.31191	0.125	T	0.61525	-0.7045	5	.	.	.	.	.	.	.	.	60	B4DZ45	.	P	60	ENSP00000407401:A60P;ENSP00000379877:A60P	.	A	+	1	0	PEX5	7234418	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	0.032000	0.13732	0.502000	0.28037	0.000000	0.15137	GCA	.	.	none		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		C	7343151	G	C	7343151	1	2	25	0	1	0	0	0	0	0	0	0	11748	1319	46	4		4	PEX5	12	7343151	Intron	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		7343151	126508744	70	21548										
TAS2R30	259293	hgsc.bcm.edu	37	chr12	11286736	11286736	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aaggagatcttttgtctcttGacccactcaatggaatttac	7	9	3	2	rs112605675		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:11286736G>C	ENST00000539585.1	-	1	507	c.108C>G	c.(106-108)gtC>gtG	p.V36V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.V36V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTGTCTCTTGACCCACTCAA	0.388																																					p.V36V		Atlas-SNP	.											TAS2R30,NS,carcinoma,0,1	TAS2R30	28	1	1	Substitution - coding silent(1)	lung(1)	c.C108G						scavenged	.						67	66	66					12																	11286736		2014	4225	6239	SO:0001819	synonymous_variant	259293	exon1			TCTCTTGACCCAC	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.108C>G	12.37:g.11286736G>C		Somatic	295	2	0.00677966		WXS	Illumina HiSeq	Phase_I	261	7	0.0268199	NM_001097643	Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																			G|0.500;C|0.500	0.500	weak		0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286736	G	C	11286736	2	2	25	1	0	0	0	0	0	0	0	1	15570	1277	45	4		4	TAS2R30	12	11286736	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	3943585	11286736	122565159	71	21549										
PIK3C2G	5288	hgsc.bcm.edu	37	chr12	18443868	18443868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctactacagcatttccgtatCagctcttttctaagaccaag	5	12	3	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:18443868C>G	ENST00000266497.5	+	3	879	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q281E|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q281E|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Q281E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	281					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTCCGTATCAGCTCTTTTC	0.333																																					p.Q281E		Atlas-SNP	.											.	PIK3C2G	315	.	0			c.C841G						PASS	.						70	65	67					12																	18443868		1831	4080	5911	SO:0001583	missense	5288	exon4			CCGTATCAGCTCT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.841C>G	12.37:g.18443868C>G	ENSP00000266497:p.Gln281Glu	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	187	23	0.122995	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	3.777	-0.046403	0.07407	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.07	3.17	0.36434	Phosphoinositide 3-kinase, ras-binding (1);	1.575750	0.03477	N	0.214491	T	0.33411	0.0862	L	0.36672	1.1	0.09310	N	1	B;B;B	0.20164	0.042;0.034;0.012	B;B;B	0.25506	0.061;0.036;0.037	T	0.30794	-0.9966	10	0.02654	T	1	-0.5465	9.0175	0.36179	0.2401:0.7599:0.0:0.0	.	280;281;281	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	E	281	ENSP00000443850:Q281E;ENSP00000404845:Q281E;ENSP00000266497:Q281E;ENSP00000445381:Q281E	ENSP00000266497:Q281E	Q	+	1	0	PIK3C2G	18335135	0.097000	0.21791	0.040000	0.18447	0.115000	0.19883	0.564000	0.23563	1.294000	0.44707	0.644000	0.83932	CAG	.	.	none		0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18443868	C	G	18443868	3	3	25	1	0	0	0	0	1	0	0	0	11911	827	29	4	851	4	PIK3C2G	12	18443868	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	7157132	18443868	115408027	72	21550										
KRT4	3851	hgsc.bcm.edu	37	chr12	53207603	53207603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccaccaaagccaccagtgccAaagcctccagcacccccaaa	5	20	0	0	rs7135148		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:53207603A>G	ENST00000551956.1	-	1	732	c.240T>C	c.(238-240)ttT>ttC	p.F80F	KRT4_ENST00000293774.4_Silent_p.F154F|KRT4_ENST00000458244.2_Silent_p.F60F			P19013	K2C4_HUMAN	keratin 4	80	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACCAGTGCCAAAGCCTCCAG	0.602																																					p.F80F	Pancreas(190;284 2995 41444 45903)	Atlas-SNP	.											KRT4,rectum,carcinoma,0,1	KRT4	110	1	0			c.T240C						PASS	.						82	99	94					12																	53207603		2119	4253	6372	SO:0001819	synonymous_variant	3851	exon1			AGTGCCAAAGCCT		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240T>C	12.37:g.53207603A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	74	8	0.108108	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																			A|1.000;|0.000	.	weak		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		G	53207603	A	G	53207603	2	3	25	1	0	0	0	0	0	0	0	1	8477	127	5	2		2	KRT4	12	53207603	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	34763735	53207603	80644292	73	21551										
KCNC2	3747	hgsc.bcm.edu	37	chr12	75601404	75601404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gcggggcagtgcagcttgccGgtgcggtagtaattgagcac	17	9	0	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:75601404G>A	ENST00000549446.1	-	2	1040	c.360C>T	c.(358-360)acC>acT	p.T120T	KCNC2_ENST00000393288.2_Silent_p.T120T|KCNC2_ENST00000341669.3_Silent_p.T120T|KCNC2_ENST00000550433.1_Silent_p.T120T|KCNC2_ENST00000548513.1_Silent_p.T120T|KCNC2_ENST00000350228.2_Silent_p.T120T|KCNC2_ENST00000540018.1_Silent_p.T120T|KCNC2_ENST00000298972.1_Silent_p.T120T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	120					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T120T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GCAGCTTGCCGGTGCGGTAGT	0.692																																					p.T120T		Atlas-SNP	.											KCNC2_ENST00000549446,colon,carcinoma,0,2	KCNC2	239	2	2	Substitution - coding silent(2)	large_intestine(2)	c.C360T						PASS	.						28	32	31					12																	75601404		2203	4298	6501	SO:0001819	synonymous_variant	3747	exon2			CTTGCCGGTGCGG	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.360C>T	12.37:g.75601404G>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	158	12	0.0759494	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	CCDS9007.1																																																																																			.	.	none		0.692	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75601404	G	A	75601404	2	1	25	1	0	0	0	0	0	0	0	1	8015	1103	39	1		1	KCNC2	12	75601404	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	22393801	75601404	58250491	74	21552										
STAB2	55576	hgsc.bcm.edu	37	chr12	104031890	104031890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tacatgccaagaaggctaccGtggggatggccaagtgtgct	14	9	0	1	rs374968745		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:104031890G>A	ENST00000388887.2	+	8	1010	c.806G>A	c.(805-807)cGt>cAt	p.R269H		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGGCTACCGTGGGGATGGC	0.498																																					p.R269H		Atlas-SNP	.											STAB2,rectum,carcinoma,0,1	STAB2	370	1	0			c.G806A						PASS	.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177	151	160		806	-10.7	0	12		160	1,8599		0,1,4299	no	missense	STAB2	NM_017564.9	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	269/2552	104031890	2,13004	2203	4300	6503	SO:0001583	missense	55576	exon8			GCTACCGTGGGGA	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.806G>A	12.37:g.104031890G>A	ENSP00000373539:p.Arg269His	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	93	7	0.0752688	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	0.287	-0.982590	0.02180	2.27E-4	1.16E-4	ENSG00000136011	ENST00000388887	T	0.04970	3.52	5.34	-10.7	0.00240	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.796511	0.11661	N	0.541825	T	0.03348	0.0097	N	0.20986	0.625	0.09310	N	0.999999	B	0.14438	0.01	B	0.09377	0.004	T	0.32508	-0.9904	10	0.26408	T	0.33	.	12.2094	0.54371	0.3687:0.0:0.539:0.0924	.	269	Q8WWQ8	STAB2_HUMAN	H	269	ENSP00000373539:R269H	ENSP00000373539:R269H	R	+	2	0	STAB2	102556020	0.000000	0.05858	0.000000	0.03702	0.453000	0.32348	-1.459000	0.02370	-2.678000	0.00410	-1.036000	0.02392	CGT	.	.	weak		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104031890	G	A	104031890	3	1	25	1	0	0	0	0	1	0	0	0	15237	1145	40	1	836	1	STAB2	12	104031890	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	28430486	104031890	29820005	75	21553										
DAO	1610	hgsc.bcm.edu	37	chr12	109278847	109278847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cgccctctgcatccatgagcGctaccactcagtcctgcagc	8	18	2	1	rs200257378		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:109278847G>A	ENST00000228476.3	+	2	269	c.65G>A	c.(64-66)cGc>cAc	p.R22H	DAO_ENST00000551281.1_Missense_Mutation_p.R22H	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	22					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	ATCCATGAGCGCTACCACTCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17707	0.001		0.0	False		,,,				2504	0.0				p.R22H		Atlas-SNP	.											DAO,colon,carcinoma,0,1	DAO	58	1	0			c.G65A						PASS	.						121	97	105					12																	109278847		2203	4300	6503	SO:0001583	missense	1610	exon2			ATGAGCGCTACCA	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.65G>A	12.37:g.109278847G>A	ENSP00000228476:p.Arg22His	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	56	8	0.142857	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.763654	0.31228	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	T;T;T	0.48836	0.8;0.8;0.87	5.44	-0.879	0.10613	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.534143	0.23139	N	0.051487	T	0.23806	0.0576	N	0.20357	0.565	0.32875	D	0.509703	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.15925	-1.0420	10	0.17832	T	0.49	.	5.3692	0.16131	0.4709:0.0:0.3964:0.1328	.	22;22	P14920;Q7Z312	OXDA_HUMAN;.	H	22	ENSP00000446853:R22H;ENSP00000228476:R22H;ENSP00000447104:R22H	ENSP00000228476:R22H	R	+	2	0	DAO	107802976	0.210000	0.23517	0.459000	0.27081	0.960000	0.62799	0.606000	0.24194	-0.056000	0.13221	-0.218000	0.12543	CGC	G|1.000;A|0.000	0.000	strong		0.622	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			A	109278847	G	A	109278847	3	1	25	1	0	0	0	0	1	0	0	0	4231	1087	38	1	67	1	DAO	12	109278847	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	5246957	109278847	24573048	76	21554										
TCTN1	79600	hgsc.bcm.edu	37	chr12	111066588	111066588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acagataaacctgcattatcCtttattaatccagaagtacc	4	10	0	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr12:111066588C>T	ENST00000551590.1	+	4	645	c.489C>T	c.(487-489)tcC>tcT	p.S163S	TCTN1_ENST00000397655.3_Silent_p.S163S|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000550703.2_Silent_p.S163S|HVCN1_ENST00000548312.1_Intron|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000397659.4_Silent_p.S163S			Q2MV58	TECT1_HUMAN	tectonic family member 1	163					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCATTATCCTTTATTAATC	0.259																																					p.S163S		Atlas-SNP	.											.	TCTN1	37	.	0			c.C489T						PASS	.						89	83	85					12																	111066588		1796	4060	5856	SO:0001819	synonymous_variant	79600	exon4			ATTATCCTTTATT	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.489C>T	12.37:g.111066588C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	57	5	0.0877193	NM_024549	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	CCDS41835.1																																																																																			.	.	none		0.259	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		T	111066588	C	T	111066588	2	4	25	1	0	0	0	0	0	0	0	1	15719	668	24	2		2	TCTN1	12	111066588	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	1787741	111066588	22785307	77	21555										
DCLK1	9201	hgsc.bcm.edu	37	chr13	36686046	36686046	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acaggcgtttcaccactcccGagtccagcttgatggcatcg	10	14	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr13:36686046G>T	ENST00000360631.3	-	3	894	c.683C>A	c.(682-684)tCg>tAg	p.S228*	DCLK1_ENST00000255448.4_Nonsense_Mutation_p.S228*|DCLK1_ENST00000379892.4_Nonsense_Mutation_p.S228*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	228	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)		CACCACTCCCGAGTCCAGCTT	0.502																																					p.S228X		Atlas-SNP	.											DCLK1_ENST00000255448,colon,carcinoma,0,2	DCLK1	350	2	0			c.C683A						scavenged	.						135	114	121					13																	36686046		2203	4300	6503	SO:0001587	stop_gained	9201	exon3			ACTCCCGAGTCCA	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.683C>A	13.37:g.36686046G>T	ENSP00000353846:p.Ser228*	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	59	2	0.0338983	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Nonsense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	41	8.630846	0.98892	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	.	.	.	5.55	5.55	0.83447	.	0.063259	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8703	0.96847	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000255448:S228X	S	-	2	0	DCLK1	35584046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.592000	0.98245	2.770000	0.95276	0.650000	0.86243	TCG	.	.	none		0.502	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36686046	G	T	36686046	4	4	25	1	0	0	0	0	0	1	0	0	4291	1059	37	4	1570	4	DCLK1	13	36686046	Nonsense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		36686046	78483832	78	21556										
C14orf50	145376	hgsc.bcm.edu	37	chr14	65054033	65054033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gttcaacattcctcgcaggaGgcgtgaagatgaggaatcag	13	8	2	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr14:65054033G>T	ENST00000298705.1	+	10	929	c.833G>T	c.(832-834)aGg>aTg	p.R278M	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	278					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCTCGCAGGAGGCGTGAAGAT	0.438																																					p.R278M		Atlas-SNP	.											.	.	.	.	0			c.G833T						PASS	.						118	117	117					14																	65054033		2203	4300	6503	SO:0001583	missense	145376	exon10			GCAGGAGGCGTGA		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.833G>T	14.37:g.65054033G>T	ENSP00000298705:p.Arg278Met	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_172365	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049283	0.55218	.	.	ENSG00000165807	ENST00000298705	T	0.33438	1.41	5.55	1.56	0.23342	.	0.366248	0.26227	N	0.025588	T	0.23688	0.0573	L	0.36672	1.1	0.24361	N	0.994873	P	0.48230	0.907	B	0.44163	0.443	T	0.09357	-1.0678	10	0.62326	D	0.03	-18.651	7.233	0.26053	0.6839:0.0:0.3161:0.0	.	278	Q96LQ0	PPR36_HUMAN	M	278	ENSP00000298705:R278M	ENSP00000298705:R278M	R	+	2	0	C14orf50	64123786	0.167000	0.22975	0.989000	0.46669	0.940000	0.58332	0.403000	0.20982	0.404000	0.25506	-0.302000	0.09304	AGG	.	.	none		0.438	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		T	65054033	G	T	65054033	3	4	25	1	0	0	0	0	1	0	0	0	1777	1000	35	4	871	4	C14orf50	14	65054033	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		65054033	42295507	79	21557										
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	Atlas-SNP	.											.	CKB	9	.	0			c.C456A						PASS	.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_001823	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673	0.673	strong		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	25	1	0	0	0	0	0	0	0	1	3446	1074	38	4		4	CKB	14	103988180	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	38934147	103988180	3361360	80	21558										
ADSSL1	122622	hgsc.bcm.edu	37	chr14	105204722	105204722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ctctcatgcaggcaacggggTggtcatccacttgccaggct	12	13	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr14:105204722T>C	ENST00000330877.2	+	3	390	c.305T>C	c.(304-306)gTg>gCg	p.V102A	ADSSL1_ENST00000332972.5_Missense_Mutation_p.V145A	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GGCAACGGGGTGGTCATCCAC	0.527																																					p.V145A		Atlas-SNP	.											ADSSL1,NS,carcinoma,-1,1	ADSSL1	37	1	0			c.T434C						scavenged	.						108	93	98					14																	105204722		2203	4300	6503	SO:0001583	missense	122622	exon3			ACGGGGTGGTCAT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.305T>C	14.37:g.105204722T>C	ENSP00000331260:p.Val102Ala	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	50	3	0.06	NM_199165		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.623044	0.66901	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.54479	0.57;0.57	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.81682	2.555	0.80722	D	1	D;D	0.64830	0.993;0.994	D;D	0.72338	0.973;0.977	T	0.75822	-0.3182	10	0.87932	D	0	-3.9478	12.2559	0.54623	0.0:0.0:0.0:1.0	.	145;102	Q8N142-2;Q8N142	.;PURA1_HUMAN	A	102;145	ENSP00000331260:V102A;ENSP00000333019:V145A	ENSP00000331260:V102A	V	+	2	0	ADSSL1	104275767	1.000000	0.71417	0.806000	0.32338	0.630000	0.37929	7.699000	0.84547	1.297000	0.44761	0.402000	0.26972	GTG	.	.	none		0.527	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			C	105204722	T	C	105204722	3	2	25	1	0	0	0	0	1	0	0	0	348	1696	59	2	640	2	ADSSL1	14	105204722	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	1216542	105204722	2144818	81	21559										
ACAN	176	hgsc.bcm.edu	37	chr15	89400106	89400106	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	cctggagtagatgagatcagTgggcttccttctggagaagt	14	7	2	3	rs78806382	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr15:89400106T>C	ENST00000561243.1	+	11	4290	c.4290T>C	c.(4288-4290)agT>agC	p.S1430S	ACAN_ENST00000559004.1_Silent_p.S1430S|ACAN_ENST00000439576.2_Silent_p.S1430S|ACAN_ENST00000352105.7_Silent_p.S1430S			P16112	PGCA_HUMAN	aggrecan	1431	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATGAGATCAGTGGGCTTCCTT	0.527													-|||	119	0.023762	0.0083	0.0144	5008	,	,		17508	0.0129		0.0398	False		,,,				2504	0.046				p.S1430S		Atlas-SNP	.											AGC1,NS,haematopoietic_neoplasm,0,2	ACAN	220	2	0			c.T4290C						scavenged	.	T	,	36,3654		0,36,1809	147	146	147		4290,4290	-1.8	0	15	dbSNP_131	147	209,7961		4,201,3880	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	4,237,5689	CC,CT,TT		2.5581,0.9756,2.0658	,	1430/2432,1430/2531	89400106	245,11615	1845	4085	5930	SO:0001819	synonymous_variant	176	exon12			GATCAGTGGGCTT	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4290T>C	15.37:g.89400106T>C		Somatic	130	2	0.0153846		WXS	Illumina HiSeq	Phase_I	104	4	0.0384615	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																			T|0.949;C|0.051	0.051	strong		0.527	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		C	89400106	T	C	89400106	2	2	25	1	0	0	0	0	0	0	0	1	117	1693	59	2		2	ACAN	15	89400106	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10		89400106	13131286	82	21560										
BTBD12	84464	hgsc.bcm.edu	37	chr16	3633415	3633415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggctgtgaggactggctctcGtcctcggagtctgagtccag	15	11	2	2	rs140844106	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr16:3633415G>T	ENST00000294008.3	-	14	5476	c.4836C>A	c.(4834-4836)gaC>gaA	p.D1612E	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1612	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACTGGCTCTCGTCCTCGGAGT	0.602								Direct reversal of damage																													p.D1612E		Atlas-SNP	.											.	SLX4	173	.	0			c.C4836A						PASS	.						89	85	86					16																	3633415		2197	4300	6497	SO:0001583	missense	84464	exon14			GCTCTCGTCCTCG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4836C>A	16.37:g.3633415G>T	ENSP00000294008:p.Asp1612Glu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	99	4	0.040404	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550284	0.45383	.	.	ENSG00000188827	ENST00000294008	T	0.01279	5.06	5.64	-11.3	0.00108	.	0.338393	0.30830	N	0.008795	T	0.00754	0.0025	L	0.33245	0.995	0.21064	N	0.999799	P	0.38020	0.615	B	0.28638	0.092	T	0.35624	-0.9781	10	0.30078	T	0.28	.	9.2116	0.37322	0.5432:0.2303:0.2265:0.0	.	1612	Q8IY92	SLX4_HUMAN	E	1612	ENSP00000294008:D1612E	ENSP00000294008:D1612E	D	-	3	2	SLX4	3573416	0.000000	0.05858	0.004000	0.12327	0.552000	0.35366	-2.093000	0.01353	-1.628000	0.01548	-0.238000	0.12139	GAC	G|1.000;A|0.000	.	alt		0.602	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3633415	G	T	3633415	3	4	25	1	0	0	0	0	1	0	0	0	1540	1136	40	4	676	4	BTBD12	16	3633415	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10		3633415	86721338	83	21561										
NOMO1	23420	hgsc.bcm.edu	37	chr16	14969025	14969025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aaaaacggcaatgaggaaggCgaagaaagaatgaccaagcc	12	7	0	4			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr16:14969025C>T	ENST00000287667.7	+	19	2358	c.2187C>T	c.(2185-2187)ggC>ggT	p.G729G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	729						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.G729G(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATGAGGAAGGCGAAGAAAGAA	0.562																																					p.G729G		Atlas-SNP	.											NOMO1,NS,carcinoma,0,1	NOMO1	60	1	1	Substitution - coding silent(1)	endometrium(1)	c.C2187T						scavenged	.						262	267	266					16																	14969025		2197	4299	6496	SO:0001819	synonymous_variant	23420	exon19			GGAAGGCGAAGAA	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2187C>T	16.37:g.14969025C>T		Somatic	455	1	0.0021978		WXS	Illumina HiSeq	Phase_I	405	4	0.00987654	NM_014287	P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	CCDS10556.1																																																																																			.	.	weak		0.562	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			T	14969025	C	T	14969025	2	4	25	1	0	0	0	0	0	0	0	1	10531	755	27	1		1	NOMO1	16	14969025	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	11335610	14969025	75385728	84	21562										
CCDC144A	9720	hgsc.bcm.edu	37	chr17	16610846	16610846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acttaaaggatgcgaaaataAgcagccacaggtgtggaaac	11	7	0	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:16610846A>G	ENST00000360524.8	+	4	804	c.728A>G	c.(727-729)aAg>aGg	p.K243R	CCDC144A_ENST00000443444.2_Missense_Mutation_p.K243R|CCDC144A_ENST00000399273.1_Missense_Mutation_p.K243R|RN7SL620P_ENST00000580704.1_RNA|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.K243R|CCDC144A_ENST00000340621.5_Missense_Mutation_p.K242R|CCDC144A_ENST00000456009.1_Missense_Mutation_p.K243R|CCDC144A_ENST00000436374.1_3'UTR	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	243																	TGCGAAAATAAGCAGCCACAG	0.348																																					p.K243R		Atlas-SNP	.											CCDC144B,NS,carcinoma,0,2	CCDC144A	53	2	0			c.A728G						scavenged	.						35	37	36					17																	16610846		1818	4077	5895	SO:0001583	missense	9720	exon4			AAAATAAGCAGCC	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.728A>G	17.37:g.16610846A>G	ENSP00000353717:p.Lys243Arg	Somatic	685	0	0		WXS	Illumina HiSeq	Phase_I	447	5	0.0111857	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.643|9.643	1.139396|1.139396	0.21205|0.21205	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495|ENST00000328495	T;T;T;T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69;1.69;1.69;1.69|.	1.72|1.72	0.553|0.553	0.17235|0.17235	.|.	.|.	.|.	.|.	.|.	T|T	0.20861|0.20861	0.0502|0.0502	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.23797|0.23797	-1.0178|-1.0178	9|5	0.17832|.	T|.	0.49|.	.|.	3.4046|3.4046	0.07336|0.07336	0.7569:0.0:0.2431:0.0|0.7569:0.0:0.2431:0.0	.|.	243|.	A2RUR9|.	C144A_HUMAN|.	R|G	243;242;243;243;243;243;243;243;243|7	ENSP00000344740:K242R;ENSP00000382215:K243R;ENSP00000439262:K243R;ENSP00000440655:K243R;ENSP00000353717:K243R;ENSP00000394201:K243R;ENSP00000353685:K243R|.	ENSP00000344740:K242R|.	K|S	+|+	2|1	0|0	CCDC144A|CCDC144A	16551571|16551571	0.008000|0.008000	0.16893|0.16893	0.014000|0.014000	0.15608|0.15608	0.140000|0.140000	0.21249|0.21249	0.121000|0.121000	0.15667|0.15667	-0.016000|-0.016000	0.14127|0.14127	0.147000|0.147000	0.16070|0.16070	AAG|AGC	.	.	none		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			G	16610846	A	G	16610846	3	3	25	1	0	0	0	0	1	0	0	0	2777	72	3	3	742	3	CCDC144A	17	16610846	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10		16610846	64584364	85	21563										
KRT38	8687	hgsc.bcm.edu	37	chr17	39595539	39595539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcggccttggccagggtcgcAtcatccaggagcttctgtgt	13	12	2	0	rs117668654	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:39595539A>G	ENST00000246646.3	-	3	647	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	216	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCAGGGTCGCATCATCCAGGA	0.632													G|||	58	0.0115815	0.0008	0.0043	5008	,	,		17656	0.0278		0.0089	False		,,,				2504	0.0174				p.D216D		Atlas-SNP	.											KRT38,rectum,carcinoma,0,1	KRT38	63	1	0			c.T648C						scavenged	.						85	77	79					17																	39595539		2203	4300	6503	SO:0001819	synonymous_variant	8687	exon3			GGTCGCATCATCC	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.648T>C	17.37:g.39595539A>G		Somatic	50	3	0.06		WXS	Illumina HiSeq	Phase_I	59	3	0.0508475	NM_006771	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																			A|0.999;G|0.001	0.001	weak		0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		G	39595539	A	G	39595539	2	3	25	1	0	0	0	0	0	0	0	1	8475	214	8	2		2	KRT38	17	39595539	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	22984693	39595539	41599671	86	21564										
CDC27	996	hgsc.bcm.edu	37	chr17	45216113	45216113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tggttaacatacctctggcgAatttttatccatgtctgtta	7	8	2	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:45216113A>G	ENST00000066544.3	-	13	1789	c.1696T>C	c.(1696-1698)Tcg>Ccg	p.S566P	CDC27_ENST00000446365.2_Missense_Mutation_p.S505P|CDC27_ENST00000527547.1_Missense_Mutation_p.S565P|CDC27_ENST00000531206.1_Missense_Mutation_p.S572P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCTCTGGCGAATTTTTATCC	0.353																																					p.S572P		Atlas-SNP	.											CDC27_ENST00000531206,caecum,carcinoma,+1,6	CDC27	337	6	0			c.T1714C						scavenged	.						50	55	53					17																	45216113		2201	4299	6500	SO:0001583	missense	996	exon13			CTGGCGAATTTTT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1696T>C	17.37:g.45216113A>G	ENSP00000066544:p.Ser566Pro	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	2	0.0416667	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623261	0.87460	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058252	0.64402	D	0.000001	T	0.71417	0.3337	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.73380	0.98;0.961;0.975;0.924	T	0.79176	-0.1911	10	0.87932	D	0	-9.281	13.77	0.63019	1.0:0.0:0.0:0.0	.	505;565;572;566	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	P	566;572;505;565	ENSP00000066544:S566P;ENSP00000434614:S572P;ENSP00000392802:S505P;ENSP00000437339:S565P	ENSP00000066544:S566P	S	-	1	0	CDC27	42571112	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.962000	0.93254	2.141000	0.66446	0.528000	0.53228	TCG	.	.	none		0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			G	45216113	A	G	45216113	3	3	25	1	0	0	0	0	1	0	0	0	3066	246	9	2	806	2	CDC27	17	45216113	Missense_Mutation	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	5620574	45216113	35979097	87	21565										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000446365.2_Missense_Mutation_p.T106S|CDC27_ENST00000527547.1_Missense_Mutation_p.T167S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.T167S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	206	2	0.00970874		WXS	Illumina HiSeq	Phase_I	160	5	0.03125	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	25	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	18614	45234727	35960483	88	21566										
PPM1E	22843	hgsc.bcm.edu	37	chr17	56833454	56833454	+	Silent	SNP	G	G	A													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tgcggcggcggcgagccggaGccggaacccgaacccgaacc					rs77856248		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																					p.E32E		Atlas-SNP	.											PPM1E,colon,carcinoma,0,1	PPM1E	97	1	0			c.G96A						scavenged	.						14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843	exon1			GCCGGAGCCGGAA	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	17.37:g.56833454G>A		Somatic	235	1	0.00425532		WXS	Illumina HiSeq	Phase_I	200	9	0.045	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																			.	.	weak		0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	25	1	0	0	0	0	0	0	0	1	12338	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	11598727	56833454	24361756	89	21567	431	2								
PPM1E	22843	hgsc.bcm.edu	37	chr17	56833457	56833457	+	Silent	SNP	G	G	C													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ggcggcggcgagccggagccGgaacccgaacccgaacccga					rs3834568|rs201186780|rs74256772	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																					p.P33P		Atlas-SNP	.											PPM1E,colon,carcinoma,0,1	PPM1E	97	1	0			c.G99C						PASS	.						14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843	exon1			GGAGCCGGAACCC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	17.37:g.56833457G>C		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	195	11	0.0564103	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																			.	.	weak		0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	25	1	0	0	0	0	0	0	0	1	12338	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	3	56833457	24361753	90	21568	431	2								
PPM1E	22843	hgsc.bcm.edu	37	chr17	56833490	56833490	+	Silent	SNP	G	G	A													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gaacccgaacccgaacccgaGtccgagcccgagcccgaacc					rs59676153		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:56833490G>A	ENST00000308249.2	+	1	261	c.132G>A	c.(130-132)gaG>gaA	p.E44E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ccgaacccgagtccgagcccg	0.706																																					p.E44E		Atlas-SNP	.											PPM1E,colon,carcinoma,0,1	PPM1E	97	1	0			c.G132A						scavenged	.																																			SO:0001819	synonymous_variant	22843	exon1			ACCCGAGTCCGAG	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.132G>A	17.37:g.56833490G>A		Somatic	231	1	0.004329		WXS	Illumina HiSeq	Phase_I	203	31	0.152709	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																			.	.	weak		0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833490	G	A	56833490	2	1	25	1	0	0	0	0	0	0	0	1	12338	1020	36	2		2	PPM1E	17	56833490	Silent	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	33	56833490	24361720	91	21569	432	2								
PPM1E	22843	hgsc.bcm.edu	37	chr17	56833497	56833497	+	Missense_Mutation	SNP	C	C	T													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aacccgaacccgagtccgagCccgagcccgaacctgaactg					rs61052860		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:56833497C>T	ENST00000308249.2	+	1	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			cgagtccgagcccgagcccga	0.701																																					p.P47S		Atlas-SNP	.											PPM1E,colon,carcinoma,0,1	PPM1E	97	1	0			c.C139T						PASS	.						15	17	16					17																	56833497		2188	4270	6458	SO:0001583	missense	22843	exon1			TCCGAGCCCGAGC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.139C>T	17.37:g.56833497C>T	ENSP00000312411:p.Pro47Ser	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	202	20	0.0990099	NM_014906	Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100828	0.20552	.	.	ENSG00000175175	ENST00000308249	T	0.22336	1.96	4.15	3.1	0.35709	.	.	.	.	.	T	0.09202	0.0227	N	0.14661	0.345	0.23192	N	0.998149	P	0.36909	0.573	B	0.32342	0.144	T	0.08452	-1.0721	9	0.02654	T	1	1.9125	10.3339	0.43839	0.0:0.7991:0.2009:0.0	rs61052860	47	Q8WY54-2	.	S	47	ENSP00000312411:P47S	ENSP00000312411:P47S	P	+	1	0	PPM1E	54188496	0.741000	0.28217	1.000000	0.80357	0.229000	0.25112	1.208000	0.32345	2.017000	0.59298	0.462000	0.41574	CCC	C|0.900;T|0.100	0.100	weak		0.701	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		T	56833497	C	T	56833497	3	4	25	1	0	0	0	0	1	0	0	0	12338	739	26	2	141	2	PPM1E	17	56833497	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	7	56833497	24361713	92	21570	432	2								
CD7	924	hgsc.bcm.edu	37	chr17	80274179	80274179	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gctggcgggtcagggagggcAgaggctgtctgcgggtcagg	22	8	3	1	rs560319694		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr17:80274179A>G	ENST00000312648.3	-	3	610	c.504T>C	c.(502-504)tcT>tcC	p.S168S	CD7_ENST00000578509.1_Silent_p.S68S|CD7_ENST00000583376.1_Silent_p.S68S|CD7_ENST00000584284.1_Silent_p.S168S	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	168	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGGGAGGGCAGAGGCTGTCT	0.716																																					p.S168S	Pancreas(45;804 1068 19702 28207 28798)	Atlas-SNP	.											CD7,rectum,carcinoma,0,1	CD7	25	1	0			c.T504C						scavenged	.						14	17	16					17																	80274179		2168	4265	6433	SO:0001819	synonymous_variant	924	exon3			GAGGGCAGAGGCT	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.504T>C	17.37:g.80274179A>G		Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	48	13	0.270833	NM_006137		Silent	SNP	ENST00000312648.3	37	CCDS11807.1																																																																																			.	.	none		0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		G	80274179	A	G	80274179	2	3	25	1	0	0	0	0	0	0	0	1	3032	175	7	3		3	CD7	17	80274179	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	23440682	80274179	921031	93	21571										
SLMO1	10650	hgsc.bcm.edu	37	chr18	12420448	12420448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gcggccgcctgcacagcttgCgcctgctcagcaccgagtgg	14	16	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr18:12420448C>T	ENST00000440960.1	+	2	237	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	SLMO1_ENST00000587735.1_5'Flank|SLMO1_ENST00000592149.1_Missense_Mutation_p.R32C|SLMO1_ENST00000336990.4_Missense_Mutation_p.R53C|SLMO1_ENST00000590956.1_Intron	NM_001142405.1	NP_001135877.1	Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	53	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)	1						GCACAGCTTGCGCCTGCTCAG	0.746																																					p.R53C		Atlas-SNP	.											.	SLMO1	11	.	0			c.C157T						PASS	.						8	9	9					18																	12420448		2149	4232	6381	SO:0001583	missense	10650	exon2			AGCTTGCGCCTGC	AK056046	CCDS11860.1	18p11.21	2007-02-20	2007-02-06	2007-02-06	ENSG00000141391	ENSG00000141391			24639	protein-coding gene	gene with protein product	"erythroid differentiation and denucleation factor 1"		"chromosome 18 open reading frame 43"	C18orf43			Standard	NM_006553		Approved	HFL-EDDG1, FLJ31484, PRELID3A	uc010wzu.2	Q96N28	OTTHUMG00000131694	ENST00000440960.1:c.157C>T	18.37:g.12420448C>T	ENSP00000404700:p.Arg53Cys	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	6	0.0882353	NM_001142405	B0YJ10|B4E0C9|D3DUJ1|Q6AHX2	Missense_Mutation	SNP	ENST00000440960.1	37	CCDS11860.1	.	.	.	.	.	.	.	.	.	.	c	15.85	2.955021	0.53293	.	.	ENSG00000141391	ENST00000440960;ENST00000336990	T;T	0.37915	1.17;1.17	4.8	3.92	0.45320	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80686	-0.1272	10	0.87932	D	0	-6.8006	12.3369	0.55073	0.3069:0.693:0.0:0.0	.	53	Q96N28	SLMO1_HUMAN	C	53	ENSP00000404700:R53C;ENSP00000338988:R53C	ENSP00000338988:R53C	R	+	1	0	SLMO1	12410448	1.000000	0.71417	0.970000	0.41538	0.180000	0.23129	2.059000	0.41384	0.981000	0.38548	-0.329000	0.08387	CGC	.	.	none		0.746	SLMO1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254602.2	NM_006553		T	12420448	C	T	12420448	3	4	25	1	0	0	0	0	1	0	0	0	14750	768	27	1	163	1	SLMO1	18	12420448	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10		12420448	65656800	94	21572										
CXXC1	30827	hgsc.bcm.edu	37	chr18	47812268	47812268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	accacacatgcgggctgaccGtttgatctgctgctgctgct	11	13	1	2			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr18:47812268G>A	ENST00000285106.6	-	5	1204	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	CXXC1_ENST00000589940.1_Missense_Mutation_p.R164W|CXXC1_ENST00000412036.2_Missense_Mutation_p.R164W|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CGGGCTGACCGTTTGATctgc	0.577																																					p.R164W		Atlas-SNP	.											.	CXXC1	50	.	0			c.C490T						PASS	.						54	47	49					18																	47812268		2203	4300	6503	SO:0001583	missense	30827	exon5			CTGACCGTTTGAT	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.490C>T	18.37:g.47812268G>A	ENSP00000285106:p.Arg164Trp	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	65	5	0.0769231	NM_001101654	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395324	0.62066	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.30182	1.54;1.56	3.99	3.08	0.35506	Zinc finger, CXXC-type (2);	0.062520	0.64402	D	0.000005	T	0.51363	0.1670	M	0.73217	2.22	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.996;0.988;0.993;0.993	T	0.52548	-0.8561	10	0.72032	D	0.01	.	10.7306	0.46093	0.0:0.0:0.8078:0.1922	.	164;164;164;164;31	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;.;CXXC1_HUMAN;.	W	164	ENSP00000285106:R164W;ENSP00000390475:R164W	ENSP00000285106:R164W	R	-	1	2	CXXC1	46066266	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.810000	0.47979	0.772000	0.33382	0.542000	0.68232	CGG	.	.	none		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		A	47812268	G	A	47812268	3	1	25	1	0	0	0	0	1	0	0	0	4097	1144	40	1	1536	1	CXXC1	18	47812268	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	35391820	47812268	30264980	95	21573										
ALPK2	115701	hgsc.bcm.edu	37	chr18	56171335	56171335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcctcctccactgtagcataCgggatattgttctcaggccg	9	13	1	0	rs199833082	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr18:56171335C>T	ENST00000361673.3	-	11	6288	c.6075G>A	c.(6073-6075)ccG>ccA	p.P2025P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2025	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTAGCATACGGGATATTGT	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		20784	0.001		0.001	False		,,,				2504	0.0				p.P2025P		Atlas-SNP	.											ALPK2_ENST00000361673,NS,carcinoma,0,2	ALPK2	487	2	0			c.G6075A						PASS	.						151	147	148					18																	56171335		2203	4300	6503	SO:0001819	synonymous_variant	115701	exon11			AGCATACGGGATA	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6075G>A	18.37:g.56171335C>T		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	88	7	0.0795455	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																			C|1.000;T|0.000	0.000	strong		0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56171335	C	T	56171335	2	4	25	1	0	0	0	0	0	0	0	1	545	523	19	1		1	ALPK2	18	56171335	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	8359067	56171335	21905913	96	21574										
SERPINB13	5275	hgsc.bcm.edu	37	chr18	61255917	61255917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tcatcatggattcacttggcGccgtcagcactcgacttggg	11	12	4	0	rs191405968	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr18:61255917G>A	ENST00000344731.5	+	2	118	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A6T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	6					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCACTTGGCGCCGTCAGCAC	0.423													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19904	0.0		0.0	False		,,,				2504	0.0				p.A6T		Atlas-SNP	.											.	SERPINB13	51	.	0			c.G16A						PASS	.						92	89	90					18																	61255917		2203	4300	6503	SO:0001583	missense	5275	exon2			CTTGGCGCCGTCA	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.16G>A	18.37:g.61255917G>A	ENSP00000341584:p.Ala6Thr	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	88	6	0.0681818	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	7.201	0.593433	0.13875	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82984	-0.88;2.75;-1.67	4.89	-0.0729	0.13737	Serpin domain (1);	0.665922	0.13840	N	0.359130	T	0.59878	0.2226	N	0.11313	0.125	0.09310	N	1	B;B	0.25105	0.118;0.004	B;B	0.21917	0.037;0.007	T	0.46062	-0.9218	10	0.11485	T	0.65	.	5.043	0.14469	0.4092:0.1437:0.4471:0.0	.	6;6	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	T	36;6;6;6	ENSP00000388300:A36T;ENSP00000269489:A6T;ENSP00000341584:A6T	ENSP00000269489:A6T	A	+	1	0	SERPINB13	59406897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.999000	0.03697	-0.219000	0.10003	-0.258000	0.10820	GCC	G|1.000;A|0.000	0.000	strong		0.423	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		A	61255917	G	A	61255917	3	1	25	1	0	0	0	0	1	0	0	0	14100	1087	38	1	18	1	SERPINB13	18	61255917	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	5084582	61255917	16821331	97	21575										
POLR2E	5434	hgsc.bcm.edu	37	chr19	1089905	1089905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gcccacgctttatcccaaagTagcgcgccacagggtccccc	9	18	0	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:1089905T>C	ENST00000215587.7	-	6	828	c.545A>G	c.(544-546)tAc>tGc	p.Y182C	POLR2E_ENST00000586746.1_Missense_Mutation_p.Y182C|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	182					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TATCCCAAAGTAGCGCGCCAC	0.657																																					p.Y182C		Atlas-SNP	.											.	POLR2E	22	.	0			c.A545G						PASS	.						25	30	28					19																	1089905		2203	4299	6502	SO:0001583	missense	5434	exon6			CCAAAGTAGCGCG		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.545A>G	19.37:g.1089905T>C	ENSP00000215587:p.Tyr182Cys	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	185	21	0.113514	NM_002695	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412695	0.62511	.	.	ENSG00000099817	ENST00000215587	T	0.55052	0.54	3.95	3.95	0.45737	RNA polymerase, subunit H/Rpb5 C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	H	0.98089	4.145	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86577	0.1851	10	0.87932	D	0	0.1586	11.664	0.51363	0.0:0.0:0.0:1.0	.	182	P19388	RPAB1_HUMAN	C	182	ENSP00000215587:Y182C	ENSP00000215587:Y182C	Y	-	2	0	POLR2E	1040905	1.000000	0.71417	0.885000	0.34714	0.637000	0.38172	7.212000	0.77941	1.440000	0.47531	0.402000	0.26972	TAC	.	.	none		0.657	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		C	1089905	T	C	1089905	3	2	25	1	0	0	0	0	1	0	0	0	12218	1638	57	2	95	2	POLR2E	19	1089905	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10		1089905	58039078	98	21576										
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881395	1881395	+	Silent	SNP	T	T	C													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccgggtgcgcccgaggaggcTctcagggtccccaagggggc					rs199929215	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:1881395T>C	ENST00000292577.7	-	2	604	c.171A>G	c.(169-171)agA>agG	p.R57R	ABHD17A_ENST00000250974.9_Silent_p.R57R|ABHD17A_ENST00000590661.1_Silent_p.R57R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	57						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.R57R(1)									CCGAGGAGGCTCTCAGGGTCC	0.726																																					p.R57R		Atlas-SNP	.											FAM108A1,NS,carcinoma,0,3	FAM108A1	29	3	1	Substitution - coding silent(1)	prostate(1)	c.A171G						scavenged	.						7	10	9					19																	1881395		1880	3957	5837	SO:0001819	synonymous_variant	81926	exon2			GGAGGCTCTCAGG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.171A>G	19.37:g.1881395T>C		Somatic	46	2	0.0434783		WXS	Illumina HiSeq	Phase_I	53	8	0.150943	NM_031213	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			T|0.991;C|0.010	0.010	strong		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		C	1881395	T	C	1881395	2	2	25	1	0	0	0	0	0	0	0	1	5391	1548	54	3		3	FAM108A1	19	1881395	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	791490	1881395	57247588	99	21577	433	2								
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881397	1881397	+	Silent	SNP	T	T	G													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	gggtgcgcccgaggaggctcTcagggtccccaagggggcgg					rs200867680	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:1881397T>G	ENST00000292577.7	-	2	602	c.169A>C	c.(169-171)Aga>Cga	p.R57R	ABHD17A_ENST00000250974.9_Silent_p.R57R|ABHD17A_ENST00000590661.1_Silent_p.R57R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	57						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GAGGAGGCTCTCAGGGTCCCC	0.726																																					p.R57R		Atlas-SNP	.											FAM108A1,NS,carcinoma,+2,3	FAM108A1	29	3	0			c.A169C						scavenged	.						7	10	9					19																	1881397		1877	3941	5818	SO:0001819	synonymous_variant	81926	exon2			AGGCTCTCAGGGT	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.169A>C	19.37:g.1881397T>G		Somatic	45	1	0.0222222		WXS	Illumina HiSeq	Phase_I	54	9	0.166667	NM_031213	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			T|0.983;G|0.016	0.016	strong		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		G	1881397	T	G	1881397	2	3	25	1	0	0	0	0	0	0	0	1	5391	1559	54	5		5	FAM108A1	19	1881397	Silent	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	2	1881397	57247586	100	21578	433	2								
ZNF699	374879	hgsc.bcm.edu	37	chr19	9407194	9407194	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	actgtgaattcttttgtgttCtgtgagcgatgaggaacaac	11	6	2	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:9407194C>A	ENST00000591998.1	-	6	1114	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.E296*|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTTTGTGTTCTGTGAGCGAT	0.393																																					p.E296X		Atlas-SNP	.											.	ZNF699	67	.	0			c.G886T						PASS	.						108	108	108					19																	9407194		2155	4272	6427	SO:0001587	stop_gained	374879	exon5			TGTGTTCTGTGAG	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.886G>T	19.37:g.9407194C>A	ENSP00000467723:p.Glu296*	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	69	6	0.0869565	NM_198535	Q8N9A1	Nonsense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.220238	0.39201	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.28	-2.43	0.06522	.	0.000000	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	0.656	0.00834	0.1756:0.2514:0.173:0.4	.	.	.	.	X	296	.	ENSP00000311596:E296X	E	-	1	0	ZNF699	9268194	0.382000	0.25148	0.000000	0.03702	0.002000	0.02628	0.028000	0.13644	-0.346000	0.08312	-0.273000	0.10243	GAA	.	.	none		0.393	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		A	9407194	C	A	9407194	4	1	25	1	0	0	0	0	0	1	0	0	18098	922	32	4	1046	4	ZNF699	19	9407194	Nonsense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	7525797	9407194	49721789	101	21579										
NACC1	112939	hgsc.bcm.edu	37	chr19	13246155	13246155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccatgccttcaaggcccaccGggccgtgcttgctgccagca	11	17	1	0			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:13246155G>T	ENST00000292431.4	+	2	260	c.134G>T	c.(133-135)cGg>cTg	p.R45L	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	45	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AAGGCCCACCGGGCCGTGCTT	0.637																																					p.R45L		Atlas-SNP	.											NACC1,colon,carcinoma,0,1	NACC1	30	1	0			c.G134T						scavenged	.						55	55	55					19																	13246155		2203	4300	6503	SO:0001583	missense	112939	exon2			CCCACCGGGCCGT	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.134G>T	19.37:g.13246155G>T	ENSP00000292431:p.Arg45Leu	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	87	2	0.0229885	NM_052876		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644427	0.87859	.	.	ENSG00000160877	ENST00000292431	T	0.29917	1.55	5.05	5.05	0.67936	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	H	0.97540	4.025	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	T	0.82065	-0.0642	10	0.87932	D	0	.	15.9789	0.80091	0.0:0.0:1.0:0.0	.	45	Q96RE7	NACC1_HUMAN	L	45	ENSP00000292431:R45L	ENSP00000292431:R45L	R	+	2	0	NACC1	13107155	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	9.770000	0.98971	2.359000	0.80004	0.650000	0.86243	CGG	.	.	none		0.637	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		T	13246155	G	T	13246155	3	4	25	1	0	0	0	0	1	0	0	0	10135	1116	39	4	136	4	NACC1	19	13246155	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	3838961	13246155	45882828	102	21580										
CAPN12	147968	hgsc.bcm.edu	37	chr19	39227194	39227194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	accccatcccagactcacctCctctggaatctgaaagaagc	6	16	3	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:39227194C>G	ENST00000328867.4	-	11	1680	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.E309Q	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	458	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGACTCACCTCCTCTGGAATC	0.652																																					p.E458Q		Atlas-SNP	.											.	CAPN12	43	.	0			c.G1372C						PASS	.						22	24	23					19																	39227194		2198	4296	6494	SO:0001583	missense	147968	exon11			TCACCTCCTCTGG	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1372G>C	19.37:g.39227194C>G	ENSP00000331636:p.Glu458Gln	Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	313	25	0.0798722	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.308766	0.40895	.	.	ENSG00000182472	ENST00000328867	D	0.87809	-2.3	2.66	2.66	0.31614	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.845148	0.10500	N	0.667358	T	0.81692	0.4876	L	0.45228	1.405	0.32007	N	0.602555	B	0.06786	0.001	B	0.16722	0.016	T	0.78494	-0.2182	10	0.38643	T	0.18	.	8.9436	0.35745	0.0:1.0:0.0:0.0	.	458	Q6ZSI9	CAN12_HUMAN	Q	458	ENSP00000331636:E458Q	ENSP00000331636:E458Q	E	-	1	0	CAPN12	43919034	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	2.215000	0.42862	1.798000	0.52647	0.298000	0.19748	GAG	.	.	none		0.652	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			G	39227194	C	G	39227194	3	3	25	1	0	0	0	0	1	0	0	0	2625	864	30	4	831	4	CAPN12	19	39227194	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	25981039	39227194	19901789	103	21581										
FCGBP	8857	hgsc.bcm.edu	37	chr19	40373950	40373950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agcccagcccagcacctttgGtgacgcagctcaggatgcct	11	15	1	1	rs200958848	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:40373950G>T	ENST00000221347.6	-	26	12135	c.12128C>A	c.(12127-12129)aCc>aAc	p.T4043N	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4043	Cys-rich.			T -> N (in Ref. 1; BAA19526). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.T4043N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			agcACCTTTGGTGACGCAGCT	0.637													g|||	355	0.0708866	0.0242	0.0159	5008	,	,		20309	0.244		0.0239	False		,,,				2504	0.0429				p.T4043N		Atlas-SNP	.											FCGBP,NS,carcinoma,0,1	FCGBP	416	1	1	Substitution - Missense(1)	lung(1)	c.C12128A						scavenged	.						41	42	41					19																	40373950		2124	4117	6241	SO:0001583	missense	8857	exon26			CCTTTGGTGACGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12128C>A	19.37:g.40373950G>T	ENSP00000221347:p.Thr4043Asn	Somatic	227	8	0.0352423		WXS	Illumina HiSeq	Phase_I	229	20	0.0873362	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	0.780	-0.762570	0.02996	.	.	ENSG00000090920	ENST00000221347	T	0.19532	2.14	2.82	-4.06	0.03986	von Willebrand factor, type C (1);	.	.	.	.	T	0.12433	0.0302	L	0.31664	0.95	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.41680	-0.9495	8	0.16896	T	0.51	.	10.7073	0.45962	0.0:0.0:0.3532:0.6468	.	4043	Q9Y6R7	FCGBP_HUMAN	N	4043	ENSP00000221347:T4043N	ENSP00000221347:T4043N	T	-	2	0	FCGBP	45065790	0.051000	0.20477	0.021000	0.16686	0.010000	0.07245	-0.835000	0.04386	-0.764000	0.04651	-0.677000	0.03784	ACC	G|0.750;T|0.250	0.250	weak		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40373950	G	T	40373950	3	4	25	1	0	0	0	0	1	0	0	0	5778	1261	44	4	4133	4	FCGBP	19	40373950	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	1146756	40373950	18755033	104	21582										
ZNF578	147660	hgsc.bcm.edu	37	chr19	53014878	53014878	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	taatcaacaatcacacctttCacgtcatcatagacttcata	2	12	6	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr19:53014878C>T	ENST00000421239.2	+	6	1488	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCACACCTTTCACGTCATCAT	0.378																																					p.S415L		Atlas-SNP	.											.	.	.	.	0			c.C1244T						PASS	.						88	91	90					19																	53014878		2203	4300	6503	SO:0001583	missense	147660	exon6			ACCTTTCACGTCA	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1244C>T	19.37:g.53014878C>T	ENSP00000459216:p.Ser415Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	49	5	0.102041	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	5.135	0.210440	0.09757	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.25	0.06888	.	.	.	.	.	T	0.17408	0.0418	N	0.17764	0.52	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.24621	-1.0155	7	.	.	.	.	3.2313	0.06750	0.0:0.3277:0.2196:0.4527	.	415	G3V4F6	.	L	415	.	.	S	+	2	0	ZNF578	57706690	0.117000	0.22190	0.000000	0.03702	0.002000	0.02628	-0.265000	0.08644	-0.620000	0.05641	-0.734000	0.03567	TCA	.	.	none		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		T	53014878	C	T	53014878	3	4	25	1	0	0	0	0	1	0	0	0	18007	838	29	2	1254	2	ZNF578	19	53014878	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	12640928	53014878	6114105	105	21583										
POTEH	23784	hgsc.bcm.edu	37	chr22	16277852	16277852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	agaaggctgactatacttgcCgatccacaacatacagcaag	8	11	0	2	rs11489067	byFrequency	TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:16277852C>T	ENST00000343518.6	-	5	1113	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	354										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATACTTGCCGATCCACAAC	0.363																																					p.S354S		Atlas-SNP	.											POTEH,NS,carcinoma,0,1	POTEH	114	1	0			c.G1062A						scavenged	.						2	2	2					22																	16277852		390	826	1216	SO:0001819	synonymous_variant	23784	exon5			ACTTGCCGATCCA	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1062G>A	22.37:g.16277852C>T		Somatic	562	115	0.204626		WXS	Illumina HiSeq	Phase_I	429	99	0.230769	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	CCDS46658.1																																																																																			C|0.816;T|0.184	0.184	strong		0.363	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16277852	C	T	16277852	2	4	25	1	0	0	0	0	0	0	0	1	12267	639	23	1		1	POTEH	22	16277852	Silent	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10		16277852	35026714	106	21584										
RAB36	9609	hgsc.bcm.edu	37	chr22	23495232	23495232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccccacaggttttgcaagaaTgtttttgatcgagactacaa	8	9	0	3			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:23495232T>G	ENST00000263116.2	+	5	478	c.438T>G	c.(436-438)aaT>aaG	p.N146K	RAB36_ENST00000341989.4_Missense_Mutation_p.N124K	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	146					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TTTGCAAGAATGTTTTTGATC	0.478																																					p.N146K		Atlas-SNP	.											.	RAB36	26	.	0			c.T438G						PASS	.						183	174	177					22																	23495232		2203	4300	6503	SO:0001583	missense	9609	exon5			CAAGAATGTTTTT	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.438T>G	22.37:g.23495232T>G	ENSP00000263116:p.Asn146Lys	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	52	9	0.173077	NM_004914	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.35|16.35	3.098812|3.098812	0.56183|0.56183	.|.	.|.	ENSG00000100228|ENSG00000100228	ENST00000420895|ENST00000263116;ENST00000341989	.|T;T	.|0.80214	.|-1.35;-1.35	5.53|5.53	-1.43|-1.43	0.08884|0.08884	.|Small GTP-binding protein domain (1);	.|0.059264	.|0.64402	.|D	.|0.000005	T|T	0.77505|0.77505	0.4140|0.4140	L|L	0.39514|0.39514	1.22|1.22	0.29904|0.29904	N|N	0.824138|0.824138	.|D;B	.|0.55605	.|0.972;0.118	.|P;B	.|0.53360	.|0.724;0.101	T|T	0.75665|0.75665	-0.3239|-0.3239	5|10	.|0.44086	.|T	.|0.13	-26.0893|-26.0893	11.9159|11.9159	0.52765|0.52765	0.0:0.4297:0.0:0.5703|0.0:0.4297:0.0:0.5703	.|.	.|124;146	.|O95755-2;O95755	.|.;RAB36_HUMAN	G|K	41|146;124	.|ENSP00000263116:N146K;ENSP00000343494:N124K	.|ENSP00000263116:N146K	C|N	+|+	1|3	0|2	RAB36|RAB36	21825232|21825232	0.355000|0.355000	0.24921|0.24921	0.226000|0.226000	0.23910|0.23910	0.816000|0.816000	0.46133|0.46133	0.251000|0.251000	0.18257|0.18257	-0.429000|-0.429000	0.07329|0.07329	-1.139000|-1.139000	0.01908|0.01908	TGT|AAT	.	.	none		0.478	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		G	23495232	T	G	23495232	3	3	25	1	0	0	0	0	1	0	0	0	12926	1461	51	5	456	5	RAB36	22	23495232	Missense_Mutation	SNP	T	TCGA-GR-A4D5-01A-11D-A31X-10	7217380	23495232	27809334	107	21585										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ccaagtctccaacgaaggagGaagcaaagtcccctgagaag					rs370929798		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		Atlas-SNP	.											NEFH,rectum,carcinoma,-2,1	NEFH	178	1	0			c.G1933A						PASS	.						82	88	86					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	153	11	0.0718954	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885562	G	A	29885562	3	1	25	1	0	0	0	0	1	0	0	0	10314	1175	41	2	1947	2	NEFH	22	29885562	Missense_Mutation	SNP	G	TCGA-GR-A4D5-01A-11D-A31X-10	6390330	29885562	21419004	108	21586	434	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						PASS	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	152	14	0.0921053	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	25	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	2	29885564	21419002	109	21587	434	3								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						PASS	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	159	17	0.106918	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	25	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-GR-A4D5-01A-11D-A31X-10	3	29885567	21418999	110	21588	434	3								
MKL1	57591	hgsc.bcm.edu	37	chr22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	ttgtggtgctgctgctgctgCtggttgaggatctgcagctg	16	8	1	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chr22:40816901C>G	ENST00000355630.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000396617.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia																																p.Q277H		Atlas-SNP	.		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	MKL1	69	.	0			c.G831C						PASS	.						62	63	62					22																	40816901		2203	4300	6503	SO:0001583	missense	57591	exon10			CTGCTGCTGGTTG	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.831G>C	22.37:g.40816901C>G	ENSP00000347847:p.Gln277His	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	67	4	0.0597015	NM_020831	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766193	0.69878	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.61859	0.16;0.11;0.07;0.16	5.26	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.77616	2.38	0.48696	D	0.999692	P;D;P	0.67145	0.787;0.996;0.787	B;D;B	0.75484	0.294;0.986;0.294	T	0.75385	-0.3336	10	0.66056	D	0.02	-15.2355	9.9937	0.41887	0.0:0.8449:0.0:0.1551	.	227;277;277	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	277;277;227;277	ENSP00000347847:Q277H;ENSP00000379861:Q277H;ENSP00000385584:Q227H;ENSP00000385835:Q277H	ENSP00000347847:Q277H	Q	-	3	2	MKL1	39146847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.270000	0.51600	1.210000	0.43336	0.462000	0.41574	CAG	.	.	none		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		G	40816901	C	G	40816901	3	3	25	1	0	0	0	0	1	0	0	0	9601	796	28	4	1988	4	MKL1	22	40816901	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	10931334	40816901	10487665	111	21589										
MSN	4478	hgsc.bcm.edu	37	chrX	64951012	64951012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	acaaggaccagtgggaggagCggatccaggtgtggcatgag	18	7	0	1			TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chrX:64951012C>T	ENST00000360270.5	+	5	683	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTGGGAGGAGCGGATCCAGGT	0.532			T	ALK	ALCL																																p.R171W		Atlas-SNP	.		Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	MSN	89	.	0			c.C511T						PASS	.						110	67	82					X																	64951012		2202	4300	6502	SO:0001583	missense	4478	exon5			GAGGAGCGGATCC	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.511C>T	X.37:g.64951012C>T	ENSP00000353408:p.Arg171Trp	Somatic	330	0	0		WXS	Illumina HiSeq	Phase_I	270	24	0.0888889	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223212	0.79464	.	.	ENSG00000147065	ENST00000360270	D	0.81739	-1.53	5.8	2.74	0.32292	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93176	0.6570	10	0.87932	D	0	.	12.3315	0.55041	0.6829:0.3171:0.0:0.0	.	171	P26038	MOES_HUMAN	W	171	ENSP00000353408:R171W	ENSP00000353408:R171W	R	+	1	2	MSN	64867737	0.997000	0.39634	0.910000	0.35882	0.974000	0.67602	2.491000	0.45303	0.571000	0.29365	0.600000	0.82982	CGG	.	.	none		0.532	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		T	64951012	C	T	64951012	3	4	25	1	0	0	0	0	1	0	0	0	9885	759	27	1	529	1	MSN	23	64951012	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10		64951012	90319548	112	21590										
AMOT	154796	hgsc.bcm.edu	37	chrX	112035109	112035109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0467289719626168	5	1	0.700794296078554	2.36267791249341	0.183763837638376	0.282051282051282	0.55067155067155	0	tctccagtcgtgtccggagaCggtgctctagctgctcacgt	12	13	3	1	rs150900068		TCGA-GR-A4D5-01A-11D-A31X-10	TCGA-GR-A4D5-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	90533f5d-0761-4b4a-a1ee-91e10e9ba2c4	433ab22f-7d7f-4e86-86f3-0ab50681046c	g.chrX:112035109C>T	ENST00000524145.1	-	7	1951	c.1877G>A	c.(1876-1878)cGt>cAt	p.R626H	AMOT_ENST00000371958.1_Missense_Mutation_p.R394H|AMOT_ENST00000304758.1_Missense_Mutation_p.R217H|AMOT_ENST00000371962.1_Missense_Mutation_p.R394H|AMOT_ENST00000371959.3_Missense_Mutation_p.R626H			Q4VCS5	AMOT_HUMAN	angiomotin	626					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGTCCGGAGACGGTGCTCTAG	0.473																																					p.R626H		Atlas-SNP	.											.	AMOT	204	.	0			c.G1877A						PASS	.	C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	154	132	140		1877,650	5.8	1	X	dbSNP_134	140	1,6727		0,1,2427,1872	no	missense,missense	AMOT	NM_001113490.1,NM_133265.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	626/1085,217/676	112035109	1,10562	2203	4300	6503	SO:0001583	missense	154796	exon6			CGGAGACGGTGCT	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1877G>A	X.37:g.112035109C>T	ENSP00000429013:p.Arg626His	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	83	8	0.0963855	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460507	0.96240	0.0	1.49E-4	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.35421	1.99;1.57;1.81;1.57;1.31	5.79	5.79	0.91817	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66598	-0.5883	10	0.66056	D	0.02	-9.5449	17.8504	0.88746	0.0:1.0:0.0:0.0	.	626	Q4VCS5	AMOT_HUMAN	H	217;626;394;626;394	ENSP00000305557:R217H;ENSP00000361027:R626H;ENSP00000361030:R394H;ENSP00000429013:R626H;ENSP00000361026:R394H	ENSP00000305557:R217H	R	-	2	0	AMOT	111921765	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	7.818000	0.86416	2.435000	0.82474	0.600000	0.82982	CGT	C|1.000;T|0.000	0.000	weak		0.473	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		T	112035109	C	T	112035109	3	4	25	1	0	0	0	0	1	0	0	0	582	536	19	1	1401	1	AMOT	23	112035109	Missense_Mutation	SNP	C	TCGA-GR-A4D5-01A-11D-A31X-10	47084097	112035109	43235451	113	21591										
PRAMEF11	440560	hgsc.bcm.edu	37	chr1	12888371	12888371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cctcacctgggacgaaccccTtgggtaagcagtgcatcaag	11	13	2	0	rs200394590	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:12888371T>G	ENST00000535591.1	-	2	348	c.153A>C	c.(151-153)caA>caC	p.Q51H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	51					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Q51H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GACGAACCCCTTGGGTAAGCA	0.622																																					p.Q51H		Atlas-SNP	.											PRAMEF11,NS,other,0,1	PRAMEF11	72	1	1	Substitution - Missense(1)	pancreas(1)	c.A153C						scavenged	.																																			SO:0001583	missense	440560	exon2			AACCCCTTGGGTA	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.153A>C	1.37:g.12888371T>G	ENSP00000439551:p.Gln51His	Somatic	311	50	0.160772		WXS	Illumina HiSeq	Phase_I	310	67	0.216129	NM_001146344		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	4.508	0.094264	0.08632	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.17213	2.29;2.29	1.48	-0.613	0.11594	.	0.588261	0.17002	N	0.190871	T	0.18173	0.0436	M	0.79343	2.45	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.21109	-1.0255	10	0.54805	T	0.06	.	5.3835	0.16204	0.0:0.52:0.0:0.48	.	51	O60813	PRA11_HUMAN	H	51;92;51	ENSP00000439551:Q51H;ENSP00000391839:Q51H	ENSP00000328783:Q92H	Q	-	3	2	PRAMEF11	12810958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.096000	0.11059	-0.635000	0.05531	-2.221000	0.00296	CAA	T|0.250;G|0.750	0.750	weak		0.622	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		G	12888371	T	G	12888371	3	3	26	1	0	0	0	0	1	0	0	0	12427	1606	56	5	1169	5	PRAMEF11	1	12888371	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10		12888371	236362250	1	21592			1	93		2	2	27	N	T_C	7.978561e-05
PRAMEF11	440560	hgsc.bcm.edu	37	chr1	12888397	12888397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aagcagtgcatcaagcccatCgagcacagcttggaaggcct	11	12	1	0	rs202156326	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:12888397C>T	ENST00000535591.1	-	2	322	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	43					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D43N(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCAAGCCCATCGAGCACAGCT	0.627													.|||	63	0.0125799	0.0454	0.0043	5008	,	,		16628	0.0		0.0	False		,,,				2504	0.0				p.D43N		Atlas-SNP	.											PRAMEF11,NS,other,0,1	PRAMEF11	72	1	1	Substitution - Missense(1)	pancreas(1)	c.G127A						scavenged	.																																			SO:0001583	missense	440560	exon2			GCCCATCGAGCAC	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.127G>A	1.37:g.12888397C>T	ENSP00000439551:p.Asp43Asn	Somatic	283	42	0.14841		WXS	Illumina HiSeq	Phase_I	273	62	0.227106	NM_001146344		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.143414	0.37825	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05996	3.36;3.36	1.45	1.45	0.22620	.	0.744226	0.12606	N	0.454302	T	0.10766	0.0263	M	0.77712	2.385	0.09310	N	1	D	0.53745	0.962	P	0.44921	0.464	T	0.18366	-1.0339	10	0.87932	D	0	.	6.4008	0.21638	0.0:1.0:0.0:0.0	.	43	O60813	PRA11_HUMAN	N	43;84;43	ENSP00000439551:D43N;ENSP00000391839:D43N	ENSP00000328783:D84N	D	-	1	0	PRAMEF11	12810984	0.004000	0.15560	0.007000	0.13788	0.013000	0.08279	0.287000	0.18920	1.122000	0.41944	0.380000	0.24917	GAT	C|0.250;T|0.750	0.750	weak		0.627	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		T	12888397	C	T	12888397	3	4	26	1	0	0	0	0	1	0	0	0	12427	884	31	1	1195	1	PRAMEF11	1	12888397	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	26	12888397	236362224	2	21593			1	93		2	2	27	N	T_C	7.978561e-05
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	145	20	0.137931		WXS	Illumina HiSeq	Phase_I	127	20	0.15748	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	26	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	19311	12907708	236342913	3	21594										
NBPF3	84224	hgsc.bcm.edu	37	chr1	21795388	21795388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ggccaaccggcaaaataattAcggtaagttctataggctca	9	9	2	0	rs1827293	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:21795388A>G	ENST00000318249.5	+	3	691	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.Y114C|NBPF3_ENST00000318220.6_Missense_Mutation_p.Y58C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	114			Y -> C (in dbSNP:rs1827293). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAAAATAATTACGGTAAGTTC	0.448											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	2123	0.423922	0.1445	0.4755	5008	,	,		19838	0.5804		0.5417	False		,,,				2504	0.4826				p.A114G		Atlas-SNP	.											NBPF3,NS,carcinoma,0,1	NBPF3	55	1	0			c.C341G						scavenged	.	A	CYS/TYR	970,3436		104,762,1337	48	53	51		341	-2.2	0	1	dbSNP_92	51	4756,3844		1332,2092,876	yes	missense	NBPF3	NM_032264.2	194	1436,2854,2213	GG,GA,AA		44.6977,22.0154,44.0258	probably-damaging	114/634	21795388	5726,7280	2203	4300	6503	SO:0001583	missense	84224	exon3			ATAATTACGGTAA	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.341A>G	1.37:g.21795388A>G	ENSP00000316782:p.Tyr114Cys	Somatic	253	0	0	751	WXS	Illumina HiSeq	Phase_I	220	4	0.0181818	NM_001256416	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	999	0.4574175824175824	88	0.17886178861788618	187	0.5165745856353591	318	0.5559440559440559	406	0.5356200527704486	.	10.34	1.323132	0.24080	0.220154	0.553023	ENSG00000142794	ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T	0.04970	3.69;3.52;3.55;3.69	1.08	-2.16	0.07080	.	.	.	.	.	T	0.00012	0.0000	M	0.72353	2.195	0.80722	P	0.0	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	T	0.48547	-0.9026	8	0.87932	D	0	.	1.9892	0.03442	0.3991:0.302:0.0:0.2989	rs1827293;rs3738102;rs17420230;rs17856707;rs52824093;rs58179675;rs1827293	114;114	Q9H094-3;Q9H094	.;NBPF3_HUMAN	C	58;114;58;114;58	ENSP00000316739:Y58C;ENSP00000316782:Y114C;ENSP00000340336:Y114C;ENSP00000391865:Y58C	ENSP00000316739:Y58C	Y	+	2	0	NBPF3	21667975	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.056000	0.11787	-0.776000	0.04578	0.327000	0.21459	TAC	A|0.554;G|0.446	0.446	strong		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21795388	A	G	21795388	3	3	26	1	0	0	0	0	1	0	0	0	10197	391	14	2	347	2	NBPF3	1	21795388	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	8887680	21795388	227455233	4	21595										
PODN	127435	hgsc.bcm.edu	37	chr1	53544260	53544260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tggccttccagggcctcaagCggttgcacacggtgcacctg	13	14	1	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:53544260C>T	ENST00000312553.5	+	8	1229	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PODN_ENST00000395871.2_Missense_Mutation_p.R266W|PODN_ENST00000371500.3_Missense_Mutation_p.R389W|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	360					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCTCAAGCGGTTGCACAC	0.652																																					p.R408W		Atlas-SNP	.											.	PODN	86	.	0			c.C1222T						PASS	.						57	54	55					1																	53544260		2203	4300	6503	SO:0001583	missense	127435	exon8			CTCAAGCGGTTGC	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1222C>T	1.37:g.53544260C>T	ENSP00000308315:p.Arg408Trp	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	84	24	0.285714	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536732	0.65085	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.58940	0.3;0.3;0.3	4.81	1.05	0.20165	.	0.456979	0.21202	N	0.078445	T	0.72630	0.3484	M	0.74467	2.265	0.32794	N	0.500809	D;D;D	0.76494	0.999;0.999;0.994	D;D;P	0.67103	0.949;0.946;0.877	T	0.80204	-0.1479	10	0.72032	D	0.01	.	14.7344	0.69406	0.8156:0.1844:0.0:0.0	.	266;389;408	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	W	389;266;408	ENSP00000360555:R389W;ENSP00000379212:R266W;ENSP00000308315:R408W	ENSP00000308315:R408W	R	+	1	2	PODN	53316848	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	1.866000	0.39489	0.051000	0.15978	0.555000	0.69702	CGG	.	.	none		0.652	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53544260	C	T	53544260	3	4	26	1	0	0	0	0	1	0	0	0	12178	759	27	1	1252	1	PODN	1	53544260	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	31748872	53544260	195706361	5	21596										
COL24A1	255631	hgsc.bcm.edu	37	chr1	86249233	86249233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccaacaatgccagcatccccTtcaggaccctagacatacaa	5	16	1	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:86249233T>G	ENST00000370571.2	-	51	4596	c.4230A>C	c.(4228-4230)gaA>gaC	p.E1410D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1410D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1410	Collagen-like 16.				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)	p.E1410D(1)		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)		CAGCATCCCCTTCAGGACCCT	0.353																																					p.E1410D		Atlas-SNP	.											COL24A1,colon,carcinoma,0,1	COL24A1	202	1	1	Substitution - Missense(1)	large_intestine(1)	c.A4230C						PASS	.						122	115	117					1																	86249233		1840	4085	5925	SO:0001583	missense	255631	exon51			ATCCCCTTCAGGA	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.4230A>C	1.37:g.86249233T>G	ENSP00000359603:p.Glu1410Asp	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	156	35	0.224359	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872250	0.33069	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93307	-3.2;-3.1	5.48	-3.93	0.04143	.	0.000000	0.39083	N	0.001464	T	0.65943	0.2740	N	0.11201	0.11	0.26770	N	0.969815	P;P	0.34977	0.478;0.458	B;B	0.38880	0.148;0.284	T	0.73672	-0.3909	10	0.13853	T	0.58	.	3.6705	0.08272	0.5974:0.1259:0.0997:0.177	.	1410;1410	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	1410	ENSP00000359603:E1410D;ENSP00000392531:E1410D	ENSP00000359603:E1410D	E	-	3	2	COL24A1	86021821	0.021000	0.18746	0.961000	0.40146	0.883000	0.51084	-1.096000	0.03353	-0.281000	0.09141	-0.242000	0.12053	GAA	.	.	none		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86249233	T	G	86249233	3	3	26	1	0	0	0	0	1	0	0	0	3683	1606	56	5	954	5	COL24A1	1	86249233	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	32704973	86249233	163001388	6	21597										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120846059	120846059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gtcttccttcctgcaacaacGgacacttctggatgtttcac	7	13	3	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:120846059G>A	ENST00000369390.3	+	3	1124	c.295G>A	c.(295-297)Gga>Aga	p.G99R	FAM72B_ENST00000355228.4_Missense_Mutation_p.G59R|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	99										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCAACAACGGACACTTCTG	0.388																																					p.G99R		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.G295A						scavenged	.						345	316	325					1																	120846059		1870	4114	5984	SO:0001583	missense	653820	exon3			AACAACGGACACT	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.295G>A	1.37:g.120846059G>A	ENSP00000358397:p.Gly99Arg	Somatic	766	6	0.0078329		WXS	Illumina HiSeq	Phase_I	529	11	0.020794	NM_001100910	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	g	18.03	3.532588	0.64972	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.38401	1.14;1.14;1.14	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.36166	0.0957	M	0.83603	2.65	0.54753	D	0.999989	D;B	0.63880	0.993;0.295	P;B	0.49361	0.608;0.056	T	0.42548	-0.9445	10	0.54805	T	0.06	.	10.8119	0.46551	0.0:0.0:1.0:0.0	.	99;59	Q86X60;Q86X60-2	FA72B_HUMAN;.	R	70;99;70;59	ENSP00000358397:G99R;ENSP00000392882:G70R;ENSP00000347368:G59R	ENSP00000347368:G59R	G	+	1	0	FAM72B	120647582	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.236000	0.78154	1.431000	0.47355	0.398000	0.26397	GGA	.	.	weak		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			A	120846059	G	A	120846059	3	1	26	1	0	0	0	0	1	0	0	0	5615	1117	39	1	305	1	FAM72B	1	120846059	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	34596826	120846059	128404562	7	21598										
FLG	2312	hgsc.bcm.edu	37	chr1	152286156	152286156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	actgcagatgaagcttgcccGcgcccagtggctgagtgtct	13	12	1	3	rs140941956		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:152286156G>A	ENST00000368799.1	-	3	1241	c.1206C>T	c.(1204-1206)cgC>cgT	p.R402R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	402	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R402R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGCCCGCGCCCAGTGG	0.562									Ichthyosis																												p.R402R		Atlas-SNP	.											FLG,NS,carcinoma,0,3	FLG	900	3	1	Substitution - coding silent(1)	endometrium(1)	c.C1206T						scavenged	.	G		0,4406		0,0,2203	238	243	241		1206	-8.3	0	1	dbSNP_134	241	2,8598		0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		402/4062	152286156	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGCCCGCGCCCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1206C>T	1.37:g.152286156G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	67	2	0.0298507	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			G|1.000;A|0.000	0.000	weak		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152286156	G	A	152286156	2	1	26	1	0	0	0	0	0	0	0	1	5922	1074	38	1		1	FLG	1	152286156	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	31440097	152286156	96964465	8	21599										
FCRL3	115352	hgsc.bcm.edu	37	chr1	157670256	157670256	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cccatctactcactcaggatCagcagcagcagccacagaag	8	15	4	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:157670256C>T	ENST00000368184.3	-	2	315	c.24G>A	c.(22-24)ctG>ctA	p.L8L	FCRL3_ENST00000368186.5_Silent_p.L8L|FCRL3_ENST00000473231.1_5'Flank	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACTCAGGATCAGCAGCAGCA	0.547																																					p.L8L		Atlas-SNP	.											.	FCRL3	163	.	0			c.G24A						PASS	.						47	49	49					1																	157670256		2203	4300	6503	SO:0001819	synonymous_variant	115352	exon2			CAGGATCAGCAGC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.24G>A	1.37:g.157670256C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	160	39	0.24375	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																			.	.	none		0.547	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		T	157670256	C	T	157670256	2	4	26	1	0	0	0	0	0	0	0	1	5796	813	29	2		2	FCRL3	1	157670256	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	5384100	157670256	91580365	9	21600										
FCGR3A	2214	hgsc.bcm.edu	37	chr1	161518286	161518286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cctgtactctccactgtcgtCgactgtggcagcgtcaatga	10	13	2	1	rs200727785		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:161518286C>T	ENST00000436743.1	-	4	398	c.244G>A	c.(244-246)Gac>Aac	p.D82N	FCGR3A_ENST00000367969.3_Missense_Mutation_p.D118N|FCGR3A_ENST00000443193.1_Missense_Mutation_p.D117N|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.D82N|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	82	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCACTGTCGTCGACTGTGGCA	0.547																																					p.D118N		Atlas-SNP	.											FCGR3A,colon,carcinoma,+2,1	FCGR3A	38	1	0			c.G352A						scavenged	.						282	257	266					1																	161518286		2203	4300	6503	SO:0001583	missense	2214	exon3			TGTCGTCGACTGT	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.244G>A	1.37:g.161518286C>T	ENSP00000416607:p.Asp82Asn	Somatic	369	18	0.0487805		WXS	Illumina HiSeq	Phase_I	356	19	0.0533708	NM_000569	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	T	0.254	-1.004529	0.02112	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	4.42	-8.84	0.00803	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.472120	0.04313	N	0.349334	T	0.01061	0.0035	N	0.11756	0.17	0.09310	A	2.22055e-13	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30937	-0.9961	9	0.02654	T	1	.	6.7583	0.23526	0.0842:0.2147:0.084:0.6171	.	82;117	P08637;E9PG94	FCG3A_HUMAN;.	N	118;117;82;82;82;81	ENSP00000356946:D118N;ENSP00000392047:D117N;ENSP00000416607:D82N;ENSP00000356944:D82N;ENSP00000444971:D82N;ENSP00000396567:D81N	ENSP00000356944:D82N	D	-	1	0	FCGR3A	159784910	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.472000	0.00459	-3.122000	0.00238	-3.646000	0.00026	GAC	C|0.667;T|0.333	0.333	strong		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		T	161518286	C	T	161518286	3	4	26	1	0	0	0	0	1	0	0	0	5784	884	31	1	532	1	FCGR3A	1	161518286	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	3848030	161518286	87732335	10	21601										
PAPPA2	60676	hgsc.bcm.edu	37	chr1	176671860	176671860	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gctccttattgtggagatggGaaggtgtcagagtgagtatt	15	4	1	3			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:176671860G>C	ENST00000367662.3	+	9	4518	c.3354G>C	c.(3352-3354)ggG>ggC	p.G1118G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1118					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGGAGATGGGAAGGTGTCAG	0.502																																					p.G1118G		Atlas-SNP	.											.	PAPPA2	665	.	0			c.G3354C						PASS	.						85	81	82					1																	176671860		1978	4164	6142	SO:0001819	synonymous_variant	60676	exon9			AGATGGGAAGGTG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3354G>C	1.37:g.176671860G>C		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	30	4	0.133333	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																			.	.	none		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176671860	G	C	176671860	2	2	26	1	0	0	0	0	0	0	0	1	11433	1161	41	4		4	PAPPA2	1	176671860	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	15153574	176671860	72578761	11	21602										
PPP2R5A	5525	hgsc.bcm.edu	37	chr1	212532087	212532087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aatggaaatgaatggcaagcTtttcgatgaccttactagct	9	7	0	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:212532087T>G	ENST00000261461.2	+	12	1860	c.1286T>G	c.(1285-1287)cTt>cGt	p.L429R	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.L372R	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	429					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AATGGCAAGCTTTTCGATGAC	0.343																																					p.L429R		Atlas-SNP	.											.	PPP2R5A	48	.	0			c.T1286G						PASS	.						94	89	91					1																	212532087		2203	4300	6503	SO:0001583	missense	5525	exon12			GCAAGCTTTTCGA	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1286T>G	1.37:g.212532087T>G	ENSP00000261461:p.Leu429Arg	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	318	47	0.147799	NM_006243	B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736868	0.89482	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	H	0.97103	3.94	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.66084	0.941;0.941	D	0.91502	0.5220	9	0.72032	D	0.01	-16.7161	16.6154	0.84909	0.0:0.0:0.0:1.0	.	372;429	B7Z7L2;Q15172	.;2A5A_HUMAN	R	429;429;372	.	ENSP00000261461:L429R	L	+	2	0	PPP2R5A	210598710	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.678000	0.84035	2.315000	0.78130	0.533000	0.62120	CTT	.	.	none		0.343	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		G	212532087	T	G	212532087	3	3	26	1	0	0	0	0	1	0	0	0	12392	1609	56	5	1332	5	PPP2R5A	1	212532087	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	35860227	212532087	36718534	12	21603										
OR2L2	26246	hgsc.bcm.edu	37	chr1	248201673	248201673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cctcatttttctcattttccTaatggctctaattggaaatc	4	10	3	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:248201673T>C	ENST00000366479.2	+	1	200	c.104T>C	c.(103-105)cTa>cCa	p.L35P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCATTTTCCTAATGGCTCTA	0.373																																					p.L35P		Atlas-SNP	.											OR2L2,NS,carcinoma,-1,1	OR2L2	115	1	0			c.T104C						scavenged	.						204	197	200					1																	248201673		2202	4300	6502	SO:0001583	missense	26246	exon1			TTTTCCTAATGGC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.104T>C	1.37:g.248201673T>C	ENSP00000355435:p.Leu35Pro	Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	187	2	0.0106952	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	9.276	1.046946	0.19748	.	.	ENSG00000203663	ENST00000366479	T	0.17691	2.26	1.76	1.76	0.24704	.	.	.	.	.	T	0.22704	0.0548	M	0.80616	2.505	0.19300	N	0.99998	B	0.18166	0.026	B	0.20767	0.031	T	0.22695	-1.0209	9	0.66056	D	0.02	.	8.3759	0.32442	0.0:0.0:0.0:1.0	.	35	Q8NH16	OR2L2_HUMAN	P	35	ENSP00000355435:L35P	ENSP00000355435:L35P	L	+	2	0	OR2L2	246268296	0.002000	0.14202	0.154000	0.22540	0.347000	0.29111	1.111000	0.31159	0.842000	0.35045	0.163000	0.16589	CTA	.	.	none		0.373	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		C	248201673	T	C	248201673	3	2	26	1	0	0	0	0	1	0	0	0	11007	1522	53	3	106	3	OR2L2	1	248201673	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	35669586	248201673	1048948	13	21604										
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224739	248224739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gtagtaactttctactatgcAccttttgtctacacttatct	4	10	3	0	rs113420317	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr1:248224739A>G	ENST00000359959.3	+	1	756	c.756A>G	c.(754-756)gcA>gcG	p.A252A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACTATGCACCTTTTGTCT	0.498													a|||	40	0.00798722	0.0287	0.0029	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0				p.A252A		Atlas-SNP	.											OR2L3,NS,carcinoma,0,2	OR2L3	97	2	0			c.A756G						scavenged	.	A	,	90,4316	73.1+/-111.1	2,86,2115	131	124	126		756,	-4	0	1	dbSNP_132	126	20,8576	3.0+/-9.4	0,20,4278	no	coding-synonymous,intron	OR2L13,OR2L3	NM_001004687.1,NM_175911.2	,	2,106,6393	GG,GA,AA		0.2327,2.0427,0.846	,	252/313,	248224739	110,12892	2203	4298	6501	SO:0001819	synonymous_variant	391192	exon1			CTATGCACCTTTT	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.756A>G	1.37:g.248224739A>G		Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	60	4	0.0666667	NM_001004687	B9EH44	Silent	SNP	ENST00000359959.3	37	CCDS31104.1																																																																																			.	.	weak		0.498	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		G	248224739	A	G	248224739	2	3	26	1	0	0	0	0	0	0	0	1	11008	146	6	2		2	OR2L3	1	248224739	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	23066	248224739	1025882	14	21605										
HS6ST1	9394	hgsc.bcm.edu	37	chr2	129075797	129075797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cgggccggcagtcgcacggcAcctcgaggcgtacgttctgc	15	15	1	0	rs199993343		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:129075797A>C	ENST00000259241.6	-	1	354	c.341T>G	c.(340-342)gTg>gGg	p.V114G	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	114					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.V114G(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTCGCACGGCACCTCGAGGCG	0.662																																					p.V114G		Atlas-SNP	.											HS6ST1,NS,carcinoma,0,1	HS6ST1	31	1	1	Substitution - Missense(1)	liver(1)	c.T341G						scavenged	.						2	4	3					2																	129075797		1196	3527	4723	SO:0001583	missense	9394	exon1			CACGGCACCTCGA	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.341T>G	2.37:g.129075797A>C	ENSP00000259241:p.Val114Gly	Somatic	82	16	0.195122		WXS	Illumina HiSeq	Phase_I	62	16	0.258065	NM_004807	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	a	15.67	2.902312	0.52227	.	.	ENSG00000136720	ENST00000259241	D	0.82526	-1.62	3.69	3.69	0.42338	.	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	N	0.22421	0.69	0.80722	D	1	D	0.53462	0.96	P	0.51777	0.679	T	0.74592	-0.3614	9	.	.	.	.	10.2637	0.43443	1.0:0.0:0.0:0.0	.	114	O60243	H6ST1_HUMAN	G	114	ENSP00000259241:V114G	.	V	-	2	0	HS6ST1	128792267	0.855000	0.29742	1.000000	0.80357	0.942000	0.58702	0.276000	0.18716	1.308000	0.44962	0.260000	0.18958	GTG	A|0.862;C|0.138	0.138	strong		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		C	129075797	A	C	129075797	3	2	26	1	0	0	0	0	1	0	0	0	7370	159	6	5	902	5	HS6ST1	2	129075797	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10		129075797	114123576	15	21606										
POTEF	728378	hgsc.bcm.edu	37	chr2	130872871	130872871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agttttactacttctgaattCccattggcagaggccagatg	9	9	1	3	rs199770435		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000357462.5_Silent_p.G184G|POTEF_ENST00000360967.5_Silent_p.G184G|POTEF_ENST00000361163.4_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTGAATTCCCATTGGCAG	0.423																																					p.G184G		Atlas-SNP	.											POTEF,NS,carcinoma,0,5	POTEF	140	5	2	Substitution - coding silent(2)	prostate(2)	c.G552A						scavenged	.						45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378	exon4			TGAATTCCCATTG	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.552G>A	2.37:g.130872871C>T		Somatic	670	14	0.0208955		WXS	Illumina HiSeq	Phase_I	630	17	0.0269841	NM_001099771	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																			C|0.998;T|0.002	0.002	weak		0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	26	1	0	0	0	0	0	0	0	1	12265	842	30	2		2	POTEF	2	130872871	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	1797074	130872871	112326502	16	21607										
CCDC74A	90557	hgsc.bcm.edu	37	chr2	132290242	132290242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gggcaggcagatgggggcggGggcacaccccccaatgatcc	17	13	0	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:132290242G>C	ENST00000295171.6	+	5	902	c.764G>C	c.(763-765)gGg>gCg	p.G255A	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G189A|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	255								p.G255A(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGGGGCGGGGGCACACCCC	0.597																																					p.G255A		Atlas-SNP	.											CCDC74A,NS,carcinoma,0,1	CCDC74A	44	1	1	Substitution - Missense(1)	endometrium(1)	c.G764C						scavenged	.						109	113	111					2																	132290242		2203	4300	6503	SO:0001583	missense	90557	exon5			GGGCGGGGGCACA		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.764G>C	2.37:g.132290242G>C	ENSP00000295171:p.Gly255Ala	Somatic	268	5	0.0186567		WXS	Illumina HiSeq	Phase_I	256	5	0.0195312	NM_138770	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.541194	0.27563	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.32272	1.52;1.46	2.34	1.42	0.22433	.	0.261145	0.19502	U	0.112715	T	0.30978	0.0782	L	0.59436	1.845	0.19300	N	0.999975	P;D	0.57899	0.928;0.981	P;B	0.51487	0.671;0.403	T	0.18681	-1.0329	10	0.13108	T	0.6	.	5.2496	0.15515	0.191:0.0:0.809:0.0	.	189;255	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	A	255;189	ENSP00000295171:G255A;ENSP00000387009:G189A	ENSP00000295171:G255A	G	+	2	0	CCDC74A	132006712	0.489000	0.26004	0.005000	0.12908	0.013000	0.08279	1.420000	0.34804	0.092000	0.17331	0.194000	0.17425	GGG	.	.	weak		0.597	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290242	G	C	132290242	3	2	26	1	0	0	0	0	1	0	0	0	2847	1232	43	4	782	4	CCDC74A	2	132290242	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	1417371	132290242	110909131	17	21608										
LASS6	253782	hgsc.bcm.edu	37	chr2	169417787	169417787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gcgctggtttcgacaaagacGcaatcaggagaagccaagca	12	10	1	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:169417787G>A	ENST00000305747.6	+	3	949	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CERS6_ENST00000392687.4_Missense_Mutation_p.R121H	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	121					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CGACAAAGACGCAATCAGGAG	0.458																																					p.R121H		Atlas-SNP	.											LASS6,colon,carcinoma,+1,1	.	.	1	0			c.G362A						PASS	.						151	143	145					2																	169417787		2203	4300	6503	SO:0001583	missense	253782	exon3			AAAGACGCAATCA	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.362G>A	2.37:g.169417787G>A	ENSP00000306579:p.Arg121His	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	73	20	0.273973	NM_001256126	Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405789	0.96051	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.99158	-5.5;-5.5	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.045720	0.85682	D	0.000000	D	0.99518	0.9828	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.995;0.998	D	0.98417	1.0575	10	0.52906	T	0.07	-28.4318	19.3447	0.94358	0.0:0.0:1.0:0.0	.	121;121	Q32M63;Q6ZMG9	.;CERS6_HUMAN	H	121	ENSP00000306579:R121H;ENSP00000376453:R121H	ENSP00000306579:R121H	R	+	2	0	CERS6	169126033	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.813000	0.99286	2.641000	0.89580	0.650000	0.86243	CGC	.	.	none		0.458	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		A	169417787	G	A	169417787	3	1	26	1	0	0	0	0	1	0	0	0	8643	1087	38	1	372	1	LASS6	2	169417787	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	37127545	169417787	73781586	18	21609										
TTN	7273	hgsc.bcm.edu	37	chr2	179605902	179605902	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cagctctgctgcacaggtggActcacccaacatattctctg	8	14	3	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:179605902A>T	ENST00000591111.1	-	46	11331	c.11107T>A	c.(11107-11109)Tcc>Acc	p.S3703T	TTN_ENST00000589042.1_Missense_Mutation_p.S4020T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3657T|TTN_ENST00000342175.6_Missense_Mutation_p.S3849T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3782T			Q8WZ42	TITIN_HUMAN	titin	14005	Ig-like 22.				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)			GCACAGGTGGACTCACCCAAC	0.488																																					p.S4020T		Atlas-SNP	.											.	TTN	18412	.	0			c.T12058A						PASS	.						79	80	80					2																	179605902		1920	4138	6058	SO:0001583	missense	7273	exon48			AGGTGGACTCACC	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.11107T>A	2.37:g.179605902A>T	ENSP00000465570:p.Ser3703Thr	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	29	11	0.37931	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	37		.	.	.	.	.	.	.	.	.	.	A	9.788	1.177085	0.21787	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67345	-0.26;-0.26;-0.26	5.87	2.01	0.26516	.	.	.	.	.	T	0.51635	0.1686	N	0.21373	0.66	0.20638	N	0.99987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.46247	-0.9205	9	0.87932	D	0	.	10.1952	0.43049	0.3712:0.524:0.0:0.1048	.	3657;3782;3849	D3DPF9;E7EQE6;E7ET18	.;.;.	T	3657;3849;3782;3657	ENSP00000434586:S3657T;ENSP00000340554:S3849T;ENSP00000352154:S3782T	ENSP00000340554:S3849T	S	-	1	0	TTN	179314147	1.000000	0.71417	0.717000	0.30585	0.415000	0.31203	1.705000	0.37867	0.157000	0.19338	-0.313000	0.08912	TCC	.	.	none		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179605902	A	T	179605902	3	4	26	1	0	0	0	0	1	0	0	0	16732	275	10	5	92731	5	TTN	2	179605902	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	10188115	179605902	63593471	19	21610										
HSPD1	3329	hgsc.bcm.edu	37	chr2	198363534	198363534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ggagccagtaccctggacacCggtctcatctggcgaaagac	12	13	2	1	rs565153254		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1_ENST00000409729.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																					p.P13P		Atlas-SNP	.											HSPD1_ENST00000426480,NS,haematopoietic_neoplasm,0,3	HSPD1	68	3	1	Substitution - coding silent(1)	breast(1)	c.G39A						scavenged	.						52	49	50					2																	198363534		2203	4300	6503	SO:0001819	synonymous_variant	3329	exon2			GGACACCGGTCTC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic	393	3	0.00763359		WXS	Illumina HiSeq	Phase_I	377	4	0.0106101	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	CCDS33357.1																																																																																			.	.	none		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198363534	C	T	198363534	2	4	26	1	0	0	0	0	0	0	0	1	7428	639	23	1		1	HSPD1	2	198363534	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	18757632	198363534	44835839	20	21611										
FN1	2335	hgsc.bcm.edu	37	chr2	216257886	216257886	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctcaggccgatgcttgaatcGgttatatcaacaaagcttag	9	9	2	1	rs61732520	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr2:216257886G>T	ENST00000359671.1	-	25	4062				FN1_ENST00000336916.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Silent_p.T1279T|FN1_ENST00000323926.6_Silent_p.T1279T|FN1_ENST00000432072.2_Silent_p.T1279T|FN1_ENST00000443816.1_Intron|FN1_ENST00000357009.2_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGCTTGAATCGGTTATATCAA	0.473																																					p.T1279T		Atlas-SNP	.											.	FN1	521	.	0			c.C3837A						PASS	.						79	78	78					2																	216257886		1867	4095	5962	SO:0001627	intron_variant	2335	exon25			TGAATCGGTTATA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1349C>A	2.37:g.216257886G>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	100	4	0.04	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																				G|0.994;A|0.006	.	alt		0.473	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216257886	G	T	216257886	1	4	26	0	1	0	0	0	0	0	0	0	5962	1103	39	4		4	FN1	2	216257886	Intron	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	17894352	216257886	26941487	21	21612										
RARB	5915	hgsc.bcm.edu	37	chr3	25611289	25611289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aagaaaaagaaggagacttcGaagcaagaatgcacagagag	12	5	0	5			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:25611289G>A	ENST00000404969.1	+	4	510	c.510G>A	c.(508-510)tcG>tcA	p.S170S	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.S51S|RARB_ENST00000437042.2_Silent_p.S51S|RARB_ENST00000330688.4_Silent_p.S163S			P10826	RARB_HUMAN	retinoic acid receptor, beta	170	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGGAGACTTCGAAGCAAGAAT	0.507																																					p.S163S		Atlas-SNP	.											RARB_ENST00000404969,rectum,carcinoma,+1,2	RARB	123	2	0			c.G489A						scavenged	.						118	114	115					3																	25611289		2203	4300	6503	SO:0001819	synonymous_variant	5915	exon4			GACTTCGAAGCAA	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.510G>A	3.37:g.25611289G>A		Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	82	20	0.243902	NM_000965	P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	37																																																																																				.	.	none		0.507	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		A	25611289	G	A	25611289	2	1	26	1	0	0	0	0	0	0	0	1	13053	1045	37	1		1	RARB	3	25611289	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		25611289	172411141	22	21613										
CCDC12	151903	hgsc.bcm.edu	37	chr3	46965118	46965118	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	acctcctcgatgacgggctcGggcttggcggcctccagctg	14	15	0	1	rs369626562		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:46965118G>T	ENST00000546280.1	-	4	332	c.285C>A	c.(283-285)ccC>ccA	p.P95P	CCDC12_ENST00000425441.1_Silent_p.P108P|CCDC12_ENST00000292314.2_Silent_p.P108P|CCDC12_ENST00000605358.1_5'UTR	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	95										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TGACGGGCTCGGGCTTGGCGG	0.607											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R108R		Atlas-SNP	.											CCDC12,NS,carcinoma,-2,1	CCDC12	9	1	0			c.G324A						scavenged	.						61	50	54					3																	46965118		2203	4300	6503	SO:0001819	synonymous_variant	151903	exon5			GGGCTCGGGCTTG	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.285C>A	3.37:g.46965118G>T		Somatic	121	0	0	943	WXS	Illumina HiSeq	Phase_I	125	2	0.016	NM_144716	Q8N8I4	Silent	SNP	ENST00000546280.1	37																																																																																				.	.	alt		0.607	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716		T	46965118	G	T	46965118	2	4	26	1	0	0	0	0	0	0	0	1	2755	1103	39	4		4	CCDC12	3	46965118	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	21353829	46965118	151057312	23	21614										
ROBO1	6091	hgsc.bcm.edu	37	chr3	78795978	78795978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gatggcctcgtggaggttggCattccattactgcaggctct	13	10	1	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:78795978C>A	ENST00000464233.1	-	5	685	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ROBO1_ENST00000436010.2_Missense_Mutation_p.C152F|ROBO1_ENST00000467549.1_Missense_Mutation_p.C152F|ROBO1_ENST00000495273.1_Missense_Mutation_p.C152F	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	191	Ig-like C2-type 2.				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)		TGGAGGTTGGCATTCCATTAC	0.433																																					p.C191F		Atlas-SNP	.											.	ROBO1	833	.	0			c.G572T						PASS	.						124	123	123					3																	78795978		1923	4132	6055	SO:0001583	missense	6091	exon5			GGTTGGCATTCCA	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.572G>T	3.37:g.78795978C>A	ENSP00000420321:p.Cys191Phe	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	108	14	0.12963	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664509	0.67700	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.90038	0.6889	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92395	0.5924	9	.	.	.	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	191;152;152;152	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	F	152;152;191;152;152;191	ENSP00000406043:C152F;ENSP00000420321:C191F;ENSP00000420637:C152F;ENSP00000417992:C152F	.	C	-	2	0	ROBO1	78878668	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	TGC	.	.	none		0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78795978	C	A	78795978	3	1	26	1	0	0	0	0	1	0	0	0	13513	710	25	4	4504	4	ROBO1	3	78795978	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	31830860	78795978	119226452	24	21615										
ATP6V1A	523	hgsc.bcm.edu	37	chr3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccagagagtccttgatgcccTttttccgtaagtttgagatg	10	9	0	3			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																					p.L237P		Atlas-SNP	.											ATP6V1A,NS,malignant_melanoma,0,1	ATP6V1A	71	1	0			c.T710C						scavenged	.						219	201	207					3																	113505224		2203	4300	6503	SO:0001583	missense	523	exon6			ATGCCCTTTTTCC	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	3.37:g.113505224T>C	ENSP00000273398:p.Leu237Pro	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT	.	.	none		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		C	113505224	T	C	113505224	3	2	26	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	34709246	113505224	84517206	25	21616										
CASR	846	hgsc.bcm.edu	37	chr3	122002948	122002948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gatccccaccagcttccaccGcaagtggtgggggctcaacc	11	16	1	0	rs201670662		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:122002948G>A	ENST00000490131.1	+	7	2519	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	CASR_ENST00000498619.1_Missense_Mutation_p.R726H|CASR_ENST00000296154.5_Missense_Mutation_p.R716H|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	716					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCTTCCACCGCAAGTGGTGG	0.567																																					p.R726H		Atlas-SNP	.											.	CASR	190	.	0			c.G2177A						PASS	.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	55	51	52		2147,2177	6	1	3		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASR	NM_000388.3,NM_001178065.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	716/1079,726/1089	122002948	1,13005	2203	4300	6503	SO:0001583	missense	846	exon7			TCCACCGCAAGTG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2147G>A	3.37:g.122002948G>A	ENSP00000418685:p.Arg716His	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	29	7	0.241379	NM_001178065	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668983	0.67814	0.0	1.16E-4	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.92406	0.5933	10	0.51188	T	0.08	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	726;716	E7ENE0;P41180	.;CASR_HUMAN	H	716;726;716	ENSP00000418685:R716H;ENSP00000420194:R726H;ENSP00000296154:R716H	ENSP00000296154:R716H	R	+	2	0	CASR	123485638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.873000	0.98535	0.561000	0.74099	CGC	.	.	weak		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	122002948	G	A	122002948	3	1	26	1	0	0	0	0	1	0	0	0	2682	1087	38	1	2199	1	CASR	3	122002948	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	8497724	122002948	76019482	26	21617										
ZIC4	84107	hgsc.bcm.edu	37	chr3	147108785	147108785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cacctgggacttgtggccgcAgtccgacgagggcgacacga	15	13	0	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:147108785A>G	ENST00000383075.3	-	4	1449	c.937T>C	c.(937-939)Tgc>Cgc	p.C313R	ZIC4_ENST00000484399.1_Missense_Mutation_p.C313R|ZIC4_ENST00000525172.2_Missense_Mutation_p.C363R|ZIC4_ENST00000425731.3_Missense_Mutation_p.C351R|ZIC4_ENST00000491672.1_Missense_Mutation_p.C107R|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.C313R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	313						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTGTGGCCGCAGTCCGACGAG	0.692																																					p.C363R		Atlas-SNP	.											ZIC4,brain,primitive_neuroectodermal_tumour-medulloblastoma,+2,1	ZIC4	174	1	0			c.T1087C						scavenged	.						23	29	27					3																	147108785		2112	4250	6362	SO:0001583	missense	84107	exon4			GGCCGCAGTCCGA	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.937T>C	3.37:g.147108785A>G	ENSP00000372553:p.Cys313Arg	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	52	2	0.0384615	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	8.390	0.839548	0.16891	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.10573	2.94;2.88;2.86;2.94;2.94;2.92	5.05	1.26	0.21427	.	0.979536	0.08337	N	0.961371	T	0.06600	0.0169	N	0.22421	0.69	0.23483	N	0.997583	B;B	0.16166	0.016;0.003	B;B	0.15484	0.013;0.008	T	0.44787	-0.9305	9	0.15952	T	0.53	.	4.9773	0.14148	0.707:0.0:0.1528:0.1402	.	363;313	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	R	313;351;363;313;313;107	ENSP00000372553:C313R;ENSP00000397695:C351R;ENSP00000435509:C363R;ENSP00000417855:C313R;ENSP00000420775:C313R;ENSP00000418277:C107R	ENSP00000372553:C313R	C	-	1	0	ZIC4	148591475	0.999000	0.42202	0.997000	0.53966	0.460000	0.32559	1.311000	0.33562	0.231000	0.21079	0.379000	0.24179	TGC	.	.	none		0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			G	147108785	A	G	147108785	3	3	26	1	0	0	0	0	1	0	0	0	17678	188	7	3	75	3	ZIC4	3	147108785	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	25105837	147108785	50913645	27	21618										
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150176367	150176367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctcaacagcaagcagtgataGcacagcctccgcagccaacg	9	15	1	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:150176367G>T	ENST00000361875.3	+	4	3303	c.2287G>T	c.(2287-2289)Gca>Tca	p.A763S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A739S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	763					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A763T(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGTGATAGCACAGCCTCC	0.443																																					p.A763S		Atlas-SNP	.											TSC22D2,NS,carcinoma,0,1	TSC22D2	42	1	1	Substitution - Missense(1)	kidney(1)	c.G2287T						scavenged	.						96	94	95					3																	150176367		2203	4300	6503	SO:0001583	missense	9819	exon4			GTGATAGCACAGC	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2287G>T	3.37:g.150176367G>T	ENSP00000354543:p.Ala763Ser	Somatic	284	1	0.00352113		WXS	Illumina HiSeq	Phase_I	335	4	0.0119403	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.60|11.60	1.686679|1.686679	0.29962|0.29962	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136|ENST00000466814	T;T|.	0.33216|.	1.42;1.46|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.112900|.	0.37809|.	N|.	0.001926|.	T|T	0.43590|0.43590	0.1254|0.1254	N|N	0.12182|0.12182	0.205|0.205	0.34511|0.34511	D|D	0.707131|0.707131	D;D|.	0.76494|.	0.999;0.994|.	D;D|.	0.80764|.	0.994;0.97|.	T|T	0.51521|0.51521	-0.8695|-0.8695	10|5	0.05721|.	T|.	0.95|.	.|.	17.2681|17.2681	0.87093|0.87093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;763|.	O75157-2;O75157|.	.;T22D2_HUMAN|.	S|I	212;763;739|186	ENSP00000354543:A763S;ENSP00000354893:A739S|.	ENSP00000354893:A739S|.	A|S	+|+	1|2	0|0	TSC22D2|TSC22D2	151659057|151659057	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.627000|0.627000	0.37826|0.37826	4.492000|4.492000	0.60334|0.60334	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.	.	none		0.443	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		T	150176367	G	T	150176367	3	4	26	1	0	0	0	0	1	0	0	0	16605	971	34	4	2301	4	TSC22D2	3	150176367	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	3067582	150176367	47846063	28	21619										
PLD1	5337	hgsc.bcm.edu	37	chr3	171455820	171455820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cagtgcagaggtatttacccGtggctcgtttttcagtgaca	11	9	1	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:171455820G>A	ENST00000351298.4	-	2	148	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	PLD1_ENST00000356327.5_Missense_Mutation_p.R8W|PLD1_ENST00000340989.4_Missense_Mutation_p.R8W|PLD1_ENST00000342215.6_Missense_Mutation_p.R8W	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	8					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R8W(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTATTTACCCGTGGCTCGTTT	0.418																																					p.R8W	NSCLC(149;2174 3517 34058)	Atlas-SNP	.											PLD1,NS,carcinoma,0,2	PLD1	134	2	1	Substitution - Missense(1)	endometrium(1)	c.C22T						scavenged	.						80	75	77					3																	171455820		2203	4300	6503	SO:0001583	missense	5337	exon2			TTACCCGTGGCTC	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.22C>T	3.37:g.171455820G>A	ENSP00000342793:p.Arg8Trp	Somatic	130	1	0.00769231		WXS	Illumina HiSeq	Phase_I	172	27	0.156977	NM_002662		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772291	0.31411	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989;ENST00000418087	T;T;T;T;T	0.46063	3.34;3.35;1.44;3.21;0.88	5.51	-5.02	0.02982	.	0.379407	0.22897	N	0.054316	T	0.29126	0.0724	L	0.29908	0.895	0.09310	N	1	D;D	0.69078	0.997;0.994	B;B	0.43783	0.409;0.431	T	0.48234	-0.9053	10	0.72032	D	0.01	-6.2871	14.8852	0.70564	0.0768:0.0:0.6076:0.3156	.	31;8	Q59EA4;Q13393	.;PLD1_HUMAN	W	8	ENSP00000348681:R8W;ENSP00000342793:R8W;ENSP00000339936:R8W;ENSP00000340326:R8W;ENSP00000400639:R8W	ENSP00000340326:R8W	R	-	1	2	PLD1	172938514	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.421000	0.07053	-0.550000	0.06183	-0.262000	0.10625	CGG	.	.	none		0.418	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		A	171455820	G	A	171455820	3	1	26	1	0	0	0	0	1	0	0	0	12045	1144	40	1	3306	1	PLD1	3	171455820	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	21279453	171455820	26566610	29	21620										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183212058	183212058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tttccaaacatcatgctgtgTttctttgccacctgcaagag	7	11	2	1	rs372112529		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:183212058T>C	ENST00000341319.3	-	5	1194	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	387					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCATGCTGTGTTTCTTTGCCA	0.408																																					p.T387A		Atlas-SNP	.											.	KLHL6	100	.	0			c.A1159G						PASS	.						106	106	106					3																	183212058		2203	4300	6503	SO:0001583	missense	89857	exon5			GCTGTGTTTCTTT	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1159A>G	3.37:g.183212058T>C	ENSP00000341342:p.Thr387Ala	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	19	0.24359	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633258	0.67015	.	.	ENSG00000172578	ENST00000341319	T	0.65549	-0.16	5.96	5.96	0.96718	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.64997	1.995	0.58432	D	0.999997	P	0.51449	0.945	P	0.44732	0.459	T	0.69558	-0.5113	10	0.59425	D	0.04	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	387	Q8WZ60	KLHL6_HUMAN	A	387	ENSP00000341342:T387A	ENSP00000341342:T387A	T	-	1	0	KLHL6	184694752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.270000	0.75569	0.533000	0.62120	ACA	.	.	alt		0.408	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		C	183212058	T	C	183212058	3	2	26	1	0	0	0	0	1	0	0	0	8393	1725	60	2	718	2	KLHL6	3	183212058	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	11756238	183212058	14810372	30	21621										
MAGEF1	64110	hgsc.bcm.edu	37	chr3	184429559	184429559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tcatggccgccatccttctcCccctcggcctgcgggaccgg	11	19	2	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:184429559C>T	ENST00000317897.3	-	1	277	c.51G>A	c.(49-51)ggG>ggA	p.G17G		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	17						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CATCCTTCTCCCCCTCGGCCT	0.721																																					p.G17G		Atlas-SNP	.											.	MAGEF1	27	.	0			c.G51A						PASS	.						8	10	9					3																	184429559		2097	4121	6218	SO:0001819	synonymous_variant	64110	exon1			CTTCTCCCCCTCG	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.51G>A	3.37:g.184429559C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	111	17	0.153153	NM_022149	Q9H215	Silent	SNP	ENST00000317897.3	37	CCDS3269.1																																																																																			.	.	none		0.721	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		T	184429559	C	T	184429559	2	4	26	1	0	0	0	0	0	0	0	1	9187	610	22	2		2	MAGEF1	3	184429559	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	1217501	184429559	13592871	31	21622										
TMEM44	93109	hgsc.bcm.edu	37	chr3	194338423	194338423	+	Missense_Mutation	SNP	C	C	T													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gccaatgtccgctgggagaaCgtgagggagactgggatggt					rs12695036|rs386669926	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:194338423C>T	ENST00000392432.2	-	6	900	c.695G>A	c.(694-696)cGt>cAt	p.R232H	TMEM44_ENST00000273580.7_Intron|TMEM44_ENST00000473092.1_Intron|TMEM44_ENST00000381975.3_Intron|TMEM44_ENST00000347147.4_Intron	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	232			R -> H (in dbSNP:rs12695036). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		gctgggagaacgTGAGGGAGA	0.622													C|||	2410	0.48123	0.3517	0.5331	5008	,	,		16125	0.75		0.2942	False		,,,				2504	0.5348				p.R232H		Atlas-SNP	.											.	TMEM44	42	.	0			c.G695A						PASS	.	C	,HIS/ARG,,	361,1023		75,211,406	60	69	66		,695,,	-2.8	0	3	dbSNP_121	66	912,2270		173,566,852	yes	intron,missense,intron,intron	TMEM44	NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4	,29,,	248,777,1258	TT,TC,CC		28.6612,26.0838,27.88	,,,	,232/476,,	194338423	1273,3293	692	1591	2283	SO:0001583	missense	93109	exon6			GGAGAACGTGAGG	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.695G>A	3.37:g.194338423C>T	ENSP00000376227:p.Arg232His	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001166305	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	1016	0.4652014652014652	176	0.35772357723577236	195	0.5386740331491713	431	0.7534965034965035	214	0.28232189973614774	C	6.123	0.390972	0.11581	0.260838	0.286612	ENSG00000145014	ENST00000392432	T	0.23950	1.88	2.03	-2.85	0.05734	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.32428	-0.9907	6	0.23302	T	0.38	.	0.4159	0.00448	0.1788:0.2613:0.2601:0.2998	rs12695036;rs59789853;rs12695036	.	.	.	H	232	ENSP00000376227:R232H	ENSP00000376227:R232H	R	-	2	0	TMEM44	195819712	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.678000	0.01942	-0.836000	0.04229	-1.270000	0.01421	CGT	C|0.567;T|0.433	0.433	strong		0.622	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		T	194338423	C	T	194338423	3	4	26	1	0	0	0	0	1	0	0	0	16165	536	19	1	790	1	TMEM44	3	194338423	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	9908864	194338423	3684007	32	21623	435	2								
TMEM44	93109	hgsc.bcm.edu	37	chr3	194338424	194338424	+	Missense_Mutation	SNP	G	G	C													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccaatgtccgctgggagaacGtgagggagactgggatggtt					rs58679389|rs386669926	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr3:194338424G>C	ENST00000392432.2	-	6	899	c.694C>G	c.(694-696)Cgt>Ggt	p.R232G	TMEM44_ENST00000273580.7_Intron|TMEM44_ENST00000473092.1_Intron|TMEM44_ENST00000381975.3_Intron|TMEM44_ENST00000347147.4_Intron	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	232			R -> H (in dbSNP:rs12695036). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ctgggagaacgTGAGGGAGAC	0.627													G|||	932	0.186102	0.1399	0.2003	5008	,	,		16153	0.3036		0.0666	False		,,,				2504	0.2403				p.R232G		Atlas-SNP	.											.	TMEM44	42	.	0			c.C694G						PASS	.						62	71	68					3																	194338424		692	1591	2283	SO:0001583	missense	93109	exon6			GAGAACGTGAGGG	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.694C>G	3.37:g.194338424G>C	ENSP00000376227:p.Arg232Gly	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001166305	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	304	0.1391941391941392	64	0.13008130081300814	59	0.16298342541436464	148	0.25874125874125875	33	0.04353562005277045	G	3.222	-0.159324	0.06544	.	.	ENSG00000145014	ENST00000392432	T	0.23552	1.9	2.03	-2.52	0.06346	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.45101	-0.9284	6	0.30078	T	0.28	.	6.5849	0.22614	0.6181:0.0:0.3819:0.0	rs58679389	.	.	.	G	232	ENSP00000376227:R232G	ENSP00000376227:R232G	R	-	1	0	TMEM44	195819713	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.396000	0.01052	-0.762000	0.04664	-0.464000	0.05259	CGT	C|0.130;G|0.870	0.130	strong		0.627	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		C	194338424	G	C	194338424	3	2	26	1	0	0	0	0	1	0	0	0	16165	1145	40	4	791	4	TMEM44	3	194338424	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	1	194338424	3684006	33	21624	435	2								
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228479	4228479	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ggggggccggggattccgggGacctcggggccgaggacgag	23	10	0	0	rs199890951		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr4:4228479G>C	ENST00000296358.4	-	1	137	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	38					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ggATTCCGGGGACCTCGGGGC	0.746																																					p.S38C		Atlas-SNP	.											OTOP1,NS,carcinoma,0,1	OTOP1	118	1	0			c.C113G						scavenged	.						3	3	3					4																	4228479		1773	3481	5254	SO:0001583	missense	133060	exon1			TCCGGGGACCTCG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.113C>G	4.37:g.4228479G>C	ENSP00000296358:p.Ser38Cys	Somatic	38	2	0.0526316		WXS	Illumina HiSeq	Phase_I	7	2	0.285714	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	7.656	0.683978	0.14907	.	.	ENSG00000163982	ENST00000296358	T	0.08896	3.04	2.01	0.00709	0.14069	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.31390	0.129	T	0.44559	-0.9320	9	0.49607	T	0.09	-0.0197	7.5462	0.27768	0.0:0.5332:0.4668:0.0	.	38	Q7RTM1	OTOP1_HUMAN	C	38	ENSP00000296358:S38C	ENSP00000296358:S38C	S	-	2	0	OTOP1	4279380	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.411000	0.21115	-0.016000	0.14127	-0.472000	0.04984	TCC	.	.	weak		0.746	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228479	G	C	4228479	3	2	26	1	0	0	0	0	1	0	0	0	11305	1174	41	4	1749	4	OTOP1	4	4228479	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		4228479	186925797	34	21625										
RELL1	768211	hgsc.bcm.edu	37	chr4	37650923	37650923	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ttttcaaccttttcctcttcGatatcttgctctgcttctgt	4	12	5	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr4:37650923G>T	ENST00000454158.2	-	2	376	c.288C>A	c.(286-288)atC>atA	p.I96I	RELL1_ENST00000314117.4_Silent_p.I96I	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	96						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.I96I(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TTTCCTCTTCGATATCTTGCT	0.408																																					p.I96I		Atlas-SNP	.											RELL1,rectum,carcinoma,0,1	RELL1	16	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C288A						scavenged	.						161	167	165					4																	37650923		1895	4114	6009	SO:0001819	synonymous_variant	768211	exon2			CTCTTCGATATCT	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.288C>A	4.37:g.37650923G>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	125	3	0.024	NM_001085399	Q8NBK1	Silent	SNP	ENST00000454158.2	37	CCDS43221.1																																																																																			.	.	none		0.408	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400		T	37650923	G	T	37650923	2	4	26	1	0	0	0	0	0	0	0	1	13218	1048	37	4		4	RELL1	4	37650923	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	33422444	37650923	153503353	35	21626										
POLR2B	5431	hgsc.bcm.edu	37	chr4	57881715	57881715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agggagattcggatctatacGgatgcaggccgtatttgtag	14	6	1	1	rs1713982	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr4:57881715G>A	ENST00000381227.1	+	15	2261	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	POLR2B_ENST00000314595.5_Silent_p.T616T|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.T541T|POLR2B_ENST00000441246.2_Silent_p.T609T			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	616					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGATCTATACGGATGCAGGCC	0.333													A|||	1934	0.386182	0.4342	0.2954	5008	,	,		10572	0.2986		0.3469	False		,,,				2504	0.5164				p.T616T		Atlas-SNP	.											POLR2B,colon,carcinoma,0,1	POLR2B	108	1	0			c.G1848A						scavenged	.	A		1882,2524	629.0+/-395.2	403,1076,724	119	125	123		1848	-2.7	1	4	dbSNP_89	123	2939,5661	667.8+/-402.5	487,1965,1848	no	coding-synonymous	POLR2B	NM_000938.1		890,3041,2572	AA,AG,GG		34.1744,42.7145,37.0675		616/1175	57881715	4821,8185	2203	4300	6503	SO:0001819	synonymous_variant	5431	exon14			CTATACGGATGCA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1848G>A	4.37:g.57881715G>A		Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	158	2	0.0126582	NM_000938	A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	CCDS3511.1																																																																																			G|0.634;A|0.366	0.366	strong		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57881715	G	A	57881715	2	1	26	1	0	0	0	0	0	0	0	1	12215	1103	39	1		1	POLR2B	4	57881715	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	20230792	57881715	133272561	36	21627										
DDIT4L	115265	hgsc.bcm.edu	37	chr4	101109161	101109161	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	acatcttgagcaattctctgGgtcagtttctcagggacaag	10	9	4	1	rs3749604	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr4:101109161G>C	ENST00000273990.2	-	3	469	c.255C>G	c.(253-255)acC>acG	p.T85T	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	85					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CAATTCTCTGGGTCAGTTTCT	0.453													G|||	631	0.125998	0.1626	0.1254	5008	,	,		19326	0.006		0.2316	False		,,,				2504	0.092				p.T85T		Atlas-SNP	.											DDIT4L,NS,carcinoma,-1,1	DDIT4L	33	1	0			c.C255G						scavenged	.	G		785,3621	316.1+/-294.4	60,665,1478	139	133	135		255	2.9	1	4	dbSNP_107	135	1940,6660	342.1+/-324.3	215,1510,2575	no	coding-synonymous	DDIT4L	NM_145244.3		275,2175,4053	CC,CG,GG		22.5581,17.8166,20.9519		85/194	101109161	2725,10281	2203	4300	6503	SO:0001819	synonymous_variant	115265	exon3			TCTCTGGGTCAGT	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.255C>G	4.37:g.101109161G>C		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	82	2	0.0243902	NM_145244	B2R7C3	Silent	SNP	ENST00000273990.2	37	CCDS34036.1																																																																																			G|0.813;C|0.187	0.187	strong		0.453	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		C	101109161	G	C	101109161	2	2	26	1	0	0	0	0	0	0	0	1	4332	1219	43	4		4	DDIT4L	4	101109161	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	43227446	101109161	90045115	37	21628										
PCDHA3	56145	hgsc.bcm.edu	37	chr5	140180941	140180941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cgcatcgcgcaggacctgggGctggagctggcggagctggt	19	11	0	0	rs201478898	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr5:140180941G>A	ENST00000522353.2	+	1	159	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PCDHA3_ENST00000532566.2_Silent_p.G53G|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTGGGGCTGGAGCTGG	0.637																																					p.G53G		Atlas-SNP	.											PCDHA3_ENST00000522353,NS,haematopoietic_neoplasm,0,2	PCDHA3	396	2	0			c.G159A						scavenged	.																																			SO:0001819	synonymous_variant	56145	exon1			CCTGGGGCTGGAG	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.159G>A	5.37:g.140180941G>A		Somatic	41	5	0.121951		WXS	Illumina HiSeq	Phase_I	33	8	0.242424	NM_031497	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			G|0.926;A|0.074	0.074	strong		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140180941	G	A	140180941	2	1	26	1	0	0	0	0	0	0	0	1	11525	1190	42	2		2	PCDHA3	5	140180941	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		140180941	40734319	38	21629										
PCDHGA3	56112	hgsc.bcm.edu	37	chr5	140725547	140725547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gtggtggccgtccaggaccaCggccagccccctctctccgc	12	19	1	0	rs544633115	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr5:140725547C>T	ENST00000253812.6	+	1	1947	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H649H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.711													.|||	8	0.00159744	0.0053	0.0	5008	,	,		14827	0.0		0.001	False		,,,				2504	0.0				p.H649H		Atlas-SNP	.											PCDHGA3_ENST00000253812,NS,carcinoma,0,1	PCDHGA3	246	1	1	Substitution - coding silent(1)	kidney(1)	c.C1947T						scavenged	.						12	19	17					5																	140725547		2129	4231	6360	SO:0001819	synonymous_variant	56112	exon1			GGACCACGGCCAG	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1947C>T	5.37:g.140725547C>T		Somatic	152	11	0.0723684		WXS	Illumina HiSeq	Phase_I	120	16	0.133333	NM_032011	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.	.	none		0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725547	C	T	140725547	2	4	26	1	0	0	0	0	0	0	0	1	11555	535	19	1		1	PCDHGA3	5	140725547	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	544606	140725547	40189713	39	21630										
HIST1H2BG	8339	hgsc.bcm.edu	37	chr6	26216764	26216764	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tacacatacacggagtagctCtccttacgactgcgcttgcg	9	13	1	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:26216764C>T	ENST00000244601.3	-	1	108	c.108G>A	c.(106-108)gaG>gaA	p.E36E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	36					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGAGTAGCTCTCCTTACGAC	0.517																																					p.E36E		Atlas-SNP	.											.	HIST1H2BG	25	.	0			c.G108A						PASS	.						250	219	229					6																	26216764		2203	4300	6503	SO:0001819	synonymous_variant	8339	exon1			GTAGCTCTCCTTA	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.108G>A	6.37:g.26216764C>T		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	88	19	0.215909	NM_003518	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000244601.3	37	CCDS4594.1																																																																																			.	.	none		0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		T	26216764	C	T	26216764	2	4	26	1	0	0	0	0	0	0	0	1	7146	912	32	2		2	HIST1H2BG	6	26216764	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		26216764	144898303	40	21631										
HIST1H2BG	8339	hgsc.bcm.edu	37	chr6	26216827	26216827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gccttggtcacagccttcttGgaacccttcttcggagcagg	11	13	3	0	rs143774290		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:26216827G>A	ENST00000244601.3	-	1	45	c.45C>T	c.(43-45)tcC>tcT	p.S15S	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CAGCCTTCTTGGAACCCTTCT	0.493																																					p.S15S		Atlas-SNP	.											.	HIST1H2BG	25	.	0			c.C45T						PASS	.	G		0,4406		0,0,2203	138	125	129		45	2.2	1	6	dbSNP_134	129	2,8598		0,2,4298	no	coding-synonymous	HIST1H2BG	NM_003518.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		15/127	26216827	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8339	exon1			CTTCTTGGAACCC	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.45C>T	6.37:g.26216827G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	74	16	0.216216	NM_003518	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000244601.3	37	CCDS4594.1																																																																																			G|1.000;A|0.000	0.000	weak		0.493	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		A	26216827	G	A	26216827	2	1	26	1	0	0	0	0	0	0	0	1	7146	1335	47	2		2	HIST1H2BG	6	26216827	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	63	26216827	144898240	41	21632										
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234674	26234674	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tcttggtcccagcagcggttGctggcttctttaccttctta	9	12	3	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:26234674G>C	ENST00000244534.5	-	1	542	c.488C>G	c.(487-489)gCa>gGa	p.A163G		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	163					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCAGCGGTTGCTGGCTTCTT	0.537																																					p.A163G		Atlas-SNP	.											.	HIST1H1D	40	.	0			c.C488G						PASS	.						95	103	100					6																	26234674		2203	4300	6503	SO:0001583	missense	3007	exon1			GCGGTTGCTGGCT	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.488C>G	6.37:g.26234674G>C	ENSP00000244534:p.Ala163Gly	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	74	16	0.216216	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	9.047	0.991113	0.18966	.	.	ENSG00000124575	ENST00000244534	T	0.25414	1.8	5.22	4.35	0.52113	.	0.316723	0.32444	N	0.006082	T	0.06280	0.0162	N	0.08118	0	0.53005	D	0.999965	B	0.27853	0.191	B	0.28465	0.09	T	0.16453	-1.0402	10	0.33940	T	0.23	-1.7269	13.338	0.60528	0.0768:0.0:0.9232:0.0	.	163	P16402	H13_HUMAN	G	163	ENSP00000244534:A163G	ENSP00000244534:A163G	A	-	2	0	HIST1H1D	26342653	0.437000	0.25593	0.009000	0.14445	0.105000	0.19272	2.513000	0.45494	1.351000	0.45789	0.650000	0.86243	GCA	.	.	none		0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		C	26234674	G	C	26234674	3	2	26	1	0	0	0	0	1	0	0	0	7125	1319	46	4	181	4	HIST1H1D	6	26234674	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	17847	26234674	144880393	42	21633										
HIST1H2BK	85236	hgsc.bcm.edu	37	chr6	27114569	27114569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	17	9	0	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2BK_ENST00000396891.4_Silent_p.E3E|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																					p.E3E		Atlas-SNP	.											HIST1H2BK_ENST00000396891,NS,carcinoma,-2,2	HIST1H2BK	68	2	0			c.A9G						scavenged	.						51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	85236	exon1			CGCTGGTTCCGGC	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C		Somatic	111	4	0.036036		WXS	Illumina HiSeq	Phase_I	113	6	0.0530973	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.	.	none		0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		C	27114569	T	C	27114569	2	2	26	1	0	0	0	0	0	0	0	1	7150	1722	60	2		2	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	879895	27114569	144000498	43	21634										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	11	11	3	1	rs139485758	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309				p.Q178H		Atlas-SNP	.											HLA-DRB5,NS,NS,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	NS(1)	c.G534C						scavenged	.						61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127	exon3			TCCATTCTGAATC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His	Somatic	20	19	0.95		WXS	Illumina HiSeq	Phase_I	14	14	1	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	A|0.003;C|0.930;G|0.067	0.067	strong		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	26	1	0	0	0	0	1	0	0	0	7209	912	32	4	282	4	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	5372696	32487265	138627802	44	21635										
NFKBIE	4794	hgsc.bcm.edu	37	chr6	44227895	44227895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cccggccagctgccaggtgcAggggtgtgcacccgttcagc	15	15	1	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:44227895A>G	ENST00000275015.5	-	5	1321	c.1322T>C	c.(1321-1323)cTg>cCg	p.L441P	SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000537814.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	441					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCCAGGTGCAGGGGTGTGCA	0.647																																					p.L441P		Atlas-SNP	.											.	NFKBIE	31	.	0			c.T1322C						PASS	.						49	51	50					6																	44227895		2203	4300	6503	SO:0001583	missense	4794	exon5			AGGTGCAGGGGTG	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1322T>C	6.37:g.44227895A>G	ENSP00000275015:p.Leu441Pro	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	45	17	0.377778	NM_004556	Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421610	0.83559	.	.	ENSG00000146232	ENST00000275015;ENST00000443607	D	0.82255	-1.59	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000007	D	0.94238	0.8150	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96517	0.9383	10	0.87932	D	0	-42.6353	14.814	0.70017	1.0:0.0:0.0:0.0	.	441	O00221	IKBE_HUMAN	P	441;42	ENSP00000275015:L441P	ENSP00000275015:L441P	L	-	2	0	NFKBIE	44335873	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.297000	0.96120	1.895000	0.54865	0.533000	0.62120	CTG	.	.	none		0.647	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			G	44227895	A	G	44227895	3	3	26	1	0	0	0	0	1	0	0	0	10380	188	7	3	188	3	NFKBIE	6	44227895	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	11740630	44227895	126887172	45	21636										
PTPRK	5796	hgsc.bcm.edu	37	chr6	128505735	128505735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	catgggtttctgtccaggatCctgatgtcattcggtactct	10	10	3	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:128505735C>T	ENST00000368215.3	-	7	1003	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368227.3_Missense_Mutation_p.G335E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G335E|PTPRK_ENST00000368207.3_Missense_Mutation_p.G335E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G335E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G335E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G335E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	335	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTCCAGGATCCTGATGTCAT	0.433																																					p.G335E		Atlas-SNP	.											PTPRK_ENST00000368213,mucosal,malignant_melanoma,-1,2	PTPRK	330	2	0			c.G1004A						PASS	.						219	202	208					6																	128505735		2203	4300	6503	SO:0001583	missense	5796	exon7			CAGGATCCTGATG	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1004G>A	6.37:g.128505735C>T	ENSP00000357198:p.Gly335Glu	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	127	10	0.0787402	NM_001135648	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.174795|5.174795	0.94807|0.94807	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.|T;T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85031|0.85031	0.5604|0.5604	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.995;0.993;0.988;1.0;1.0	.|D;D;P;P;D;D	.|0.91635	.|0.999;0.932;0.888;0.838;0.999;0.998	T|T	0.82764|0.82764	-0.0296|-0.0296	5|10	.|0.36615	.|T	.|0.2	.|.	19.3758|19.3758	0.94508|0.94508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|335;335;335;192;335;335	.|B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.|.;.;.;.;PTPRK_HUMAN;.	N|E	152|335;335;335;335;335;335;335;192	.|ENSP00000357209:G335E;ENSP00000357210:G335E;ENSP00000432973:G335E;ENSP00000357196:G335E;ENSP00000357193:G335E;ENSP00000357198:G335E;ENSP00000357190:G335E	.|ENSP00000357190:G335E	D|G	-|-	1|2	0|0	PTPRK|PTPRK	128547428|128547428	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.944000|0.944000	0.59088|0.59088	7.818000|7.818000	0.86416|0.86416	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.	.	none		0.433	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128505735	C	T	128505735	3	4	26	1	0	0	0	0	1	0	0	0	12805	855	30	2	3436	2	PTPRK	6	128505735	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	84277840	128505735	42609332	46	21637										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627869	170627869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	caggcaagaagttcccatgtAtacaggccctgaatccaggc	10	12	0	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:170627869A>G	ENST00000476287.1	+	2	1499	c.1391A>G	c.(1390-1392)tAt>tGt	p.Y464C	FAM120B_ENST00000540480.1_Missense_Mutation_p.Y476C|FAM120B_ENST00000537664.1_Missense_Mutation_p.Y487C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	464					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTTCCCATGTATACAGGCCCT	0.473																																					p.Y464C		Atlas-SNP	.											FAM120B,NS,carcinoma,+1,1	FAM120B	108	1	0			c.A1391G						scavenged	.						158	171	167					6																	170627869		2203	4300	6503	SO:0001583	missense	84498	exon2			CCATGTATACAGG	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1391A>G	6.37:g.170627869A>G	ENSP00000417970:p.Tyr464Cys	Somatic	149	4	0.0268456		WXS	Illumina HiSeq	Phase_I	153	9	0.0588235	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.569559	0.00895	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07688	3.17;3.17;3.17	2.33	-4.67	0.03319	.	2.051180	0.02593	N	0.100141	T	0.00724	0.0024	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41574	-0.9501	10	0.36615	T	0.2	.	5.1008	0.14759	0.2586:0.0:0.3377:0.4037	.	464;464	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	476;487;464	ENSP00000444125:Y476C;ENSP00000440125:Y487C;ENSP00000417970:Y464C	ENSP00000436640:Y464C	Y	+	2	0	FAM120B	170469794	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.507000	0.00448	-4.063000	0.00077	-1.462000	0.01023	TAT	.	.	none		0.473	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627869	A	G	170627869	3	3	26	1	0	0	0	0	1	0	0	0	5417	449	16	2	1393	2	FAM120B	6	170627869	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	42122134	170627869	487198	47	21638			2	94		2	2	15	N	T_A	4.296228e-05
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627883	170627883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccatgtatacaggccctgaaTccaggcaagaagttcccatg	9	12	0	2	rs143059540	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr6:170627883T>G	ENST00000476287.1	+	2	1513	c.1405T>G	c.(1405-1407)Tcc>Gcc	p.S469A	FAM120B_ENST00000540480.1_Missense_Mutation_p.S481A|FAM120B_ENST00000537664.1_Missense_Mutation_p.S492A|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	469					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCCCTGAATCCAGGCAAGA	0.468																																					p.S469A		Atlas-SNP	.											FAM120B,NS,carcinoma,0,2	FAM120B	108	2	0			c.T1405G						scavenged	.						150	161	157					6																	170627883		2203	4300	6503	SO:0001583	missense	84498	exon2			CCTGAATCCAGGC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1405T>G	6.37:g.170627883T>G	ENSP00000417970:p.Ser469Ala	Somatic	152	3	0.0197368		WXS	Illumina HiSeq	Phase_I	155	6	0.0387097	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.023375	0.00414	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08370	3.13;3.1;3.13	1.31	-2.63	0.06133	.	1.867690	0.03051	N	0.154568	T	0.01287	0.0042	L	0.58101	1.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53599	-0.8416	10	0.07644	T	0.81	.	2.1106	0.03702	0.1737:0.1223:0.1139:0.5901	.	469;469	Q96EK7;F2Z2E1	F120B_HUMAN;.	A	481;492;469	ENSP00000444125:S481A;ENSP00000440125:S492A;ENSP00000417970:S469A	ENSP00000436640:S469A	S	+	1	0	FAM120B	170469808	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.559000	0.00216	-6.111000	0.00006	-3.860000	0.00018	TCC	T|1.000;C|0.000	.	alt		0.468	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627883	T	G	170627883	3	3	26	1	0	0	0	0	1	0	0	0	5417	1435	50	5	1407	5	FAM120B	6	170627883	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	14	170627883	487184	48	21639			2	94		2	2	15	N	T_A	4.296228e-05
ZKSCAN1	7586	hgsc.bcm.edu	37	chr7	99631550	99631550	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aaggccttcagccagagctcGgacctcaccaagcatcagag	10	14	3	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr7:99631550G>T	ENST00000324306.6	+	6	1656	c.1422G>T	c.(1420-1422)tcG>tcT	p.S474S	ZKSCAN1_ENST00000426572.1_Silent_p.S438S|ZKSCAN1_ENST00000535170.1_Silent_p.S261S	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCCAGAGCTCGGACCTCACCA	0.483																																					p.S474S		Atlas-SNP	.											.	ZKSCAN1	59	.	0			c.G1422T						PASS	.						99	106	104					7																	99631550		2203	4300	6503	SO:0001819	synonymous_variant	7586	exon6			GAGCTCGGACCTC	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1422G>T	7.37:g.99631550G>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_003439	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	CCDS34698.1																																																																																			.	.	none		0.483	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		T	99631550	G	T	99631550	2	4	26	1	0	0	0	0	0	0	0	1	17683	1103	39	4		4	ZKSCAN1	7	99631550	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		99631550	59507113	49	21640										
CRYGN	155051	hgsc.bcm.edu	37	chr7	151135158	151135158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agtcggggtagtcgccgtgcTccaagatgaactgctggccc	14	12	0	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr7:151135158T>G	ENST00000337323.2	-	2	320	c.194A>C	c.(193-195)gAg>gCg	p.E65A	CRYGN_ENST00000491928.1_Missense_Mutation_p.E65A|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	65	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCGCCGTGCTCCAAGATGAA	0.617																																					p.E65A		Atlas-SNP	.											.	CRYGN	15	.	0			c.A194C						PASS	.						62	61	61					7																	151135158		2203	4300	6503	SO:0001583	missense	155051	exon2			CCGTGCTCCAAGA	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.194A>C	7.37:g.151135158T>G	ENSP00000338613:p.Glu65Ala	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	58	11	0.189655	NM_144727	Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655167	0.88056	.	.	ENSG00000127377	ENST00000337323	T	0.78364	-1.17	5.05	5.05	0.67936	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.90810	0.7114	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.92787	0.6245	10	0.56958	D	0.05	.	13.9762	0.64275	0.0:0.0:0.0:1.0	.	65;65	Q8WXF5-2;Q8WXF5	.;CRGN_HUMAN	A	65	ENSP00000338613:E65A	ENSP00000338613:E65A	E	-	2	0	CRYGN	150766091	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.602000	0.82796	1.894000	0.54839	0.379000	0.24179	GAG	.	.	none		0.617	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			G	151135158	T	G	151135158	3	3	26	1	0	0	0	0	1	0	0	0	3918	1551	54	5	366	5	CRYGN	7	151135158	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	51503608	151135158	8003505	50	21641										
PTPRD	5789	hgsc.bcm.edu	37	chr9	8518055	8518055	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tctatatccttggatctgtcCatttggctcttcaggttcct	7	11	4	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr9:8518055C>A	ENST00000381196.4	-	18	1879	c.1336G>T	c.(1336-1338)Gga>Tga	p.G446*	PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G436*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G446*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G443*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G436*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G433*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G443*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G446*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G433*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G446*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G446*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	446	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGATCTGTCCATTTGGCTCT	0.458										TSP Lung(15;0.13)																											p.G446X		Atlas-SNP	.											PTPRD,scalp,malignant_melanoma,+1,1	PTPRD	1348	1	0			c.G1336T						scavenged	.						279	252	261					9																	8518055		2203	4300	6503	SO:0001587	stop_gained	5789	exon10			TCTGTCCATTTGG	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1336G>T	9.37:g.8518055C>A	ENSP00000370593:p.Gly446*	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	140	3	0.0214286	NM_130392	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990614	0.93106	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9787	0.92747	0.0:1.0:0.0:0.0	.	.	.	.	X	446;446;433;433;446;436;443;443;446;446;446;436	.	.	G	-	1	0	PTPRD	8508055	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.770000	0.85390	2.484000	0.83849	0.467000	0.42956	GGA	.	.	none		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8518055	C	A	8518055	4	1	26	1	0	0	0	0	0	1	0	0	12799	603	21	4	4574	4	PTPRD	9	8518055	Nonsense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		8518055	132695376	51	21642										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113208155	113208155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agcaaggtattgtcgctgccGttatcaactgcataggagat	11	8	1	1	rs140985683	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr9:113208155G>T	ENST00000401783.2	-	26	4761	c.4425C>A	c.(4423-4425)aaC>aaA	p.N1475K	SVEP1_ENST00000302728.8_Missense_Mutation_p.N1475K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.N1452K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1475	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.N1475N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTCGCTGCCGTTATCAACTG	0.453																																					p.N1475K		Atlas-SNP	.											SVEP1,NS,carcinoma,0,1	SVEP1	326	1	1	Substitution - coding silent(1)	stomach(1)	c.C4425A						scavenged	.						170	164	166					9																	113208155		1956	4159	6115	SO:0001583	missense	79987	exon26			GCTGCCGTTATCA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4425C>A	9.37:g.113208155G>T	ENSP00000384917:p.Asn1475Lys	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	93	2	0.0215054	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	6.962	0.547428	0.13312	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73152	3.43;3.43;-0.72	5.5	1.71	0.24356	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.219729	0.39210	N	0.001427	T	0.61502	0.2352	L	0.58810	1.83	0.25789	N	0.984648	B;B	0.14438	0.01;0.004	B;B	0.15052	0.012;0.012	T	0.53236	-0.8467	10	0.48119	T	0.1	.	6.5316	0.22330	0.5546:0.122:0.3234:0.0	.	1475;1475	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	K	1475;1452;1475	ENSP00000384917:N1475K;ENSP00000363593:N1452K;ENSP00000304118:N1475K	ENSP00000304118:N1475K	N	-	3	2	SVEP1	112247976	0.952000	0.32445	0.834000	0.33040	0.037000	0.13140	0.081000	0.14823	-0.126000	0.11682	-1.061000	0.02294	AAC	G|0.999;A|0.001	.	alt		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113208155	G	T	113208155	3	4	26	1	0	0	0	0	1	0	0	0	15417	1136	40	4	6382	4	SVEP1	9	113208155	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	104690100	113208155	28005276	52	21643										
CEP110	11064	hgsc.bcm.edu	37	chr9	123937296	123937296	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agtcttatcacacttttcagGcccaactccgacactgtatg	6	13	3	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr9:123937296G>A	ENST00000373855.1	+	43	7008	c.6748G>A	c.(6748-6750)Gcc>Acc	p.A2250T	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Splice_Site_p.A1698T|CNTRL_ENST00000238341.5_Splice_Site_p.A2250T			Q7Z7A1	CNTRL_HUMAN	centriolin	2250	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACTTTTCAGGCCCAACTCCG	0.438																																					p.A2250T		Atlas-SNP	.											.	CNTRL	161	.	0			c.G6748A						PASS	.						115	122	120					9																	123937296		2203	4300	6503	SO:0001630	splice_region_variant	11064	exon41			TTTCAGGCCCAAC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6748-1G>A	9.37:g.123937296G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	81	21	0.259259	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277169	0.95459	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.35421	1.48;1.48;1.31	5.59	5.59	0.84812	.	.	.	.	.	T	0.59169	0.2174	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55108	-0.8192	8	.	.	.	.	18.5881	0.91197	0.0:0.0:1.0:0.0	.	2250	Q7Z7A1	CNTRL_HUMAN	T	2250;2250;2250;407;1698;932	ENSP00000362962:A2250T;ENSP00000238341:A2250T;ENSP00000362956:A1698T	.	A	+	1	0	CNTRL	122977117	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.810000	0.86072	2.629000	0.89072	0.555000	0.69702	GCC	.	.	none		0.438	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	Missense_Mutation	A	123937296	G	A	123937296	5	1	26	1	0	0	0	0	0	0	1	0	3245	1217	42	2	6910	2	CEP110	9	123937296	Splice_Site	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	10729141	123937296	17276135	53	21644										
PLXDC2	84898	hgsc.bcm.edu	37	chr10	20436808	20436808	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	caaccctgctcatggatggaCgaatcatctttggatacaaa	8	10	3	0	rs372842489		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr10:20436808C>T	ENST00000377252.4	+	6	1601	c.760C>T	c.(760-762)Cga>Tga	p.R254*	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R205*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	254					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CATGGATGGACGAATCATCTT	0.453																																					p.R254X		Atlas-SNP	.											.	PLXDC2	108	.	0			c.C760T						PASS	.						102	82	88					10																	20436808		2203	4300	6503	SO:0001587	stop_gained	84898	exon6			GATGGACGAATCA	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.760C>T	10.37:g.20436808C>T	ENSP00000366460:p.Arg254*	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	102	14	0.137255	NM_032812	Q96E59|Q96PD9|Q96SU9	Nonsense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	44	11.271397	0.99539	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	4.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1168	0.65159	0.1509:0.8491:0.0:0.0	.	.	.	.	X	254;205;117;240	.	ENSP00000366446:R117X	R	+	1	2	PLXDC2	20476814	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.792000	0.55476	2.392000	0.81423	0.557000	0.71058	CGA	.	.	none		0.453	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		T	20436808	C	T	20436808	4	4	26	1	0	0	0	0	0	1	0	0	12118	528	19	1	782	1	PLXDC2	10	20436808	Nonsense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		20436808	115097939	54	21645										
TET1	80312	hgsc.bcm.edu	37	chr10	70332320	70332320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccagtcagaagccttctgacAagagctggagcagcacgcat	11	12	2	3			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr10:70332320A>G	ENST00000373644.4	+	2	434	c.225A>G	c.(223-225)acA>acG	p.T75T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	75					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCTTCTGACAAGAGCTGGAG	0.428																																					p.T75T		Atlas-SNP	.											TET1_ENST00000373644,NS,carcinoma,+1,1	TET1	255	1	0			c.A225G						scavenged	.						69	75	73					10																	70332320		2203	4300	6503	SO:0001819	synonymous_variant	80312	exon2			TCTGACAAGAGCT	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.225A>G	10.37:g.70332320A>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	162	2	0.0123457	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																			.	.	none		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70332320	A	G	70332320	2	3	26	1	0	0	0	0	0	0	0	1	15766	117	5	2		2	TET1	10	70332320	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	49895512	70332320	65202427	55	21646										
CCAR1	55749	hgsc.bcm.edu	37	chr10	70520826	70520826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tccaaaggattaaaatcccaGttaatagcccgattgacaaa	6	9	0	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr10:70520826G>T	ENST00000265872.6	+	16	2102	c.1983G>T	c.(1981-1983)caG>caT	p.Q661H	CCAR1_ENST00000543719.1_Missense_Mutation_p.Q646H|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.Q646H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	661	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAAAATCCCAGTTAATAGCCC	0.353																																					p.Q661H		Atlas-SNP	.											CCAR1,NS,carcinoma,0,1	CCAR1	118	1	0			c.G1983T						scavenged	.						70	73	72					10																	70520826		2203	4299	6502	SO:0001583	missense	55749	exon16			ATCCCAGTTAATA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1983G>T	10.37:g.70520826G>T	ENSP00000265872:p.Gln661His	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	188	4	0.0212766	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.854631|2.854631	0.51376|0.51376	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.29917|.	1.55;1.72;1.72;1.72;1.77;1.75|.	5.43|5.43	4.53|4.53	0.55603|0.55603	DNA-binding SAP (4);|.	0.060025|.	0.64402|.	D|.	0.000002|.	T|T	0.64757|0.64757	0.2627|0.2627	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.71674|.	0.988;0.996;0.998|.	D;D;D|.	0.81914|.	0.984;0.995;0.955|.	T|T	0.63730|0.63730	-0.6571|-0.6571	10|5	0.72032|.	D|.	0.01|.	-8.4663|-8.4663	10.399|10.399	0.44218|0.44218	0.1489:0.0:0.8511:0.0|0.1489:0.0:0.8511:0.0	.|.	646;661;635|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	H|F	661;646;646;646;635;466|31	ENSP00000265872:Q661H;ENSP00000441820:Q646H;ENSP00000445254:Q646H;ENSP00000439252:Q646H;ENSP00000438610:Q635H;ENSP00000439642:Q466H|.	ENSP00000265872:Q661H|.	Q|V	+|+	3|1	2|0	CCAR1|CCAR1	70190832|70190832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	4.424000|4.424000	0.59868|0.59868	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	CAG|GTT	.	.	none		0.353	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		T	70520826	G	T	70520826	3	4	26	1	0	0	0	0	1	0	0	0	2730	1020	36	4	2041	4	CCAR1	10	70520826	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	188506	70520826	65013921	56	21647										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017483	1017483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ttctggtgcctgtactggtgTggttgggggtgatgctggtg	19	5	1	1	rs79986665		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:1017483T>G	ENST00000421673.2	-	31	5368	c.5318A>C	c.(5317-5319)cAc>cCc	p.H1773P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1773	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGGTGTGGTTGGGGGT	0.577																																					p.H1773P		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.A5318C						scavenged	.						544	541	542					11																	1017483		2199	4294	6493	SO:0001583	missense	4588	exon31			CTGGTGTGGTTGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5318A>C	11.37:g.1017483T>G	ENSP00000406861:p.His1773Pro	Somatic	285	43	0.150877		WXS	Illumina HiSeq	Phase_I	261	47	0.180077	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	4.174	0.030796	0.08101	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.91	0.844	0.18943	.	.	.	.	.	T	0.04907	0.0132	N	0.01109	-1.01	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.43065	-0.9414	9	0.22706	T	0.39	.	6.6218	0.22808	0.0:0.1732:0.4682:0.3586	.	1773	Q6W4X9	MUC6_HUMAN	P	1773	ENSP00000406861:H1773P	ENSP00000406861:H1773P	H	-	2	0	MUC6	1007483	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	0.066000	0.16515	-0.743000	0.03520	CAC	T|0.500;G|0.500	0.500	weak		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017483	T	G	1017483	3	3	26	1	0	0	0	0	1	0	0	0	9980	1696	59	5	2013	5	MUC6	11	1017483	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10		1017483	133989033	57	21648										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017575	1017575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agggatgtagaggttttggcCgtgctaaatgagcttcggga	16	5	0	2	rs76222533		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:1017575C>T	ENST00000421673.2	-	31	5276	c.5226G>A	c.(5224-5226)acG>acA	p.T1742T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1742	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTTTTGGCCGTGCTAAATG	0.537													-|||	1	0.000199681	0.0	0.0014	5008	,	,		39036	0.0		0.0	False		,,,				2504	0.0				p.T1742T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.G5226A						scavenged	.						697	677	684					11																	1017575		2190	4282	6472	SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5226G>A	11.37:g.1017575C>T		Somatic	247	31	0.125506		WXS	Illumina HiSeq	Phase_I	258	22	0.0852713	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	strong		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017575	C	T	1017575	2	4	26	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017575	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	92	1017575	133988941	58	21649										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	97	3	0.0309278		WXS	Illumina HiSeq	Phase_I	98	6	0.0612245	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	26	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	3590818	4608393	130398123	59	21650										
OR51B2	79345	hgsc.bcm.edu	37	chr11	5345486	5345486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gctgcctccagccctggaaaGccagtcagcaaaaaaggggc	12	13	1	0	rs4910750	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:5345486G>A	ENST00000328813.2	-	1	96	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTGGAAAGCCAGTCAGCA	0.493											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A|||	3784	0.755591	0.7844	0.7651	5008	,	,		19902	0.5397		0.9085	False		,,,				2504	0.7751				p.G14G		Atlas-SNP	.											OR51B2,NS,carcinoma,-2,1	OR51B2	69	1	0			c.C42T						scavenged	.	A		3560,842	328.3+/-300.5	1437,686,78	49	47	48		42	-8.8	0.3	11	dbSNP_111	48	7846,748	174.5+/-224.7	3580,686,31	no	coding-synonymous	OR51B2	NM_033180.4		5017,1372,109	AA,AG,GG		8.7037,19.1277,12.2345		14/313	5345486	11406,1590	2201	4297	6498	SO:0001819	synonymous_variant	79345	exon1			TGGAAAGCCAGTC	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.42C>T	11.37:g.5345486G>A		Somatic	274	1	0.00364964	625	WXS	Illumina HiSeq	Phase_I	264	4	0.0151515	NM_033180	Q96RD4	Silent	SNP	ENST00000328813.2	37	CCDS31377.1																																																																																			G|0.181;A|0.819	0.819	strong		0.493	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		A	5345486	G	A	5345486	2	1	26	1	0	0	0	0	0	0	0	1	11089	958	34	2		2	OR51B2	11	5345486	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	737093	5345486	129661030	60	21651										
OR4D6	219983	hgsc.bcm.edu	37	chr11	59225155	59225155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	caaggccctctccacgtgcaCgtcccacatgctggtggtga	11	15	1	1	rs376910045	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:59225155C>T	ENST00000300127.2	+	1	745	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	241						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCACGTGCACGTCCCACATG	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		20259	0.0		0.0	False		,,,				2504	0.002				p.T241M		Atlas-SNP	.											OR4D6,colon,carcinoma,-1,1	OR4D6	65	1	0			c.C722T						PASS	.	C	MET/THR	0,4402		0,0,2201	120	107	112		722	5.1	1	11		112	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR4D6	NM_001004708.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	241/315	59225155	1,12991	2201	4295	6496	SO:0001583	missense	219983	exon1			CGTGCACGTCCCA	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.722C>T	11.37:g.59225155C>T	ENSP00000300127:p.Thr241Met	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	55	9	0.163636	NM_001004708	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281877	0.40394	0.0	1.16E-4	ENSG00000166884	ENST00000300127	T	0.40756	1.02	6.01	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.65575	0.2704	M	0.77486	2.375	0.23831	N	0.996728	D	0.89917	1.0	D	0.77004	0.989	T	0.62581	-0.6824	10	0.62326	D	0.03	-21.1448	15.3738	0.74587	0.1406:0.8594:0.0:0.0	.	241	Q8NGJ1	OR4D6_HUMAN	M	241	ENSP00000300127:T241M	ENSP00000300127:T241M	T	+	2	0	OR4D6	58981731	0.000000	0.05858	0.983000	0.44433	0.227000	0.25037	0.628000	0.24522	1.516000	0.48900	0.655000	0.94253	ACG	.	.	weak		0.562	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		T	59225155	C	T	59225155	3	4	26	1	0	0	0	0	1	0	0	0	11058	536	19	1	724	1	OR4D6	11	59225155	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	53879669	59225155	75781361	61	21652										
OR10G4	390264	hgsc.bcm.edu	37	chr11	123887184	123887184	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aagaaagctgtgttgaaactTagagacaaagtagcacatcc	9	7	0	3	rs4936882	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr11:123887184T>G	ENST00000320891.4	+	1	903	c.903T>G	c.(901-903)ctT>ctG	p.L301L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L301L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTTGAAACTTAGAGACAAAG	0.373													t|||	3314	0.661741	0.5166	0.804	5008	,	,		21245	0.7173		0.7266	False		,,,				2504	0.6329				p.L301L		Atlas-SNP	.											OR10G4,NS,carcinoma,0,1	OR10G4	77	1	1	Substitution - coding silent(1)	stomach(1)	c.T903G						scavenged	.	G		2514,1888	627.3+/-394.9	720,1074,407	66	63	64		903	-6.8	0	11	dbSNP_111	64	6560,2038	719.1+/-406.2	2504,1552,243	no	coding-synonymous	OR10G4	NM_001004462.1		3224,2626,650	GG,GT,TT		23.7032,42.8896,30.2		301/312	123887184	9074,3926	2201	4299	6500	SO:0001819	synonymous_variant	390264	exon1			GAAACTTAGAGAC	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.903T>G	11.37:g.123887184T>G		Somatic	79	1	0.0126582		WXS	Illumina HiSeq	Phase_I	59	2	0.0338983	NM_001004462	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																			T|0.297;G|0.703	0.703	strong		0.373	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		G	123887184	T	G	123887184	2	3	26	1	0	0	0	0	0	0	0	1	10901	1741	61	5		5	OR10G4	11	123887184	Silent	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	64662029	123887184	11119332	62	21653										
VWF	7450	hgsc.bcm.edu	37	chr12	6085324	6085324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctgggagcactgggccacgcGgaggcccatcacggcatcct	14	15	1	0	rs61751286		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr12:6085324G>A	ENST00000261405.5	-	43	7644	c.7390C>T	c.(7390-7392)Cgc>Tgc	p.R2464C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2464	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGGCCACGCGGAGGCCCATC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17555	0.0		0.001	False		,,,				2504	0.0				p.R2464C		Atlas-SNP	.											VWF,NS,lymphoid_neoplasm,+1,1	VWF	338	1	0			c.C7390T	GRCh37	CM070317	VWF	M	rs61751286	scavenged	.						70	63	65					12																	6085324		2203	4300	6503	SO:0001583	missense	7450	exon43			CCACGCGGAGGCC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7390C>T	12.37:g.6085324G>A	ENSP00000261405:p.Arg2464Cys	Somatic	99	1	0.010101		WXS	Illumina HiSeq	Phase_I	68	16	0.235294	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.3	4.268417	0.80469	.	.	ENSG00000110799	ENST00000261405	T	0.65916	-0.18	5.19	5.19	0.71726	von Willebrand factor, type C (4);	0.185059	0.26631	N	0.023302	T	0.71779	0.3380	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.73563	-0.3943	10	0.56958	D	0.05	.	15.8551	0.78972	0.0:0.0:1.0:0.0	rs61751286	2464	P04275	VWF_HUMAN	C	2464	ENSP00000261405:R2464C	ENSP00000261405:R2464C	R	-	1	0	VWF	5955585	1.000000	0.71417	0.987000	0.45799	0.734000	0.41952	5.369000	0.66138	2.412000	0.81896	0.591000	0.81541	CGC	G|1.000;A|0.000	0.000	strong		0.642	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6085324	G	A	6085324	3	1	26	1	0	0	0	0	1	0	0	0	17243	1116	39	1	1091	1	VWF	12	6085324	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		6085324	127766571	63	21654										
SLCO1B1	10599	hgsc.bcm.edu	37	chr12	21331570	21331570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gttcatgggtaatatgcttcGtggaataggggagactccca	13	7	1	1	rs142101690		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr12:21331570G>T	ENST00000256958.2	+	6	638	c.542G>T	c.(541-543)cGt>cTt	p.R181L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	181					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AATATGCTTCGTGGAATAGGG	0.348																																					p.R181L		Atlas-SNP	.											SLCO1B1,scalp,carcinoma,+1,1	SLCO1B1	151	1	0			c.G542T						scavenged	.						144	133	137					12																	21331570		2203	4300	6503	SO:0001583	missense	10599	exon6			TGCTTCGTGGAAT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.542G>T	12.37:g.21331570G>T	ENSP00000256958:p.Arg181Leu	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	291	5	0.0171821	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917223	0.52546	.	.	ENSG00000134538	ENST00000256958	T	0.54866	0.55	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.41961	1.31	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.63440	-0.6637	10	0.36615	T	0.2	.	15.813	0.78578	0.0:0.0:1.0:0.0	.	181	Q9Y6L6	SO1B1_HUMAN	L	181	ENSP00000256958:R181L	ENSP00000256958:R181L	R	+	2	0	SLCO1B1	21222837	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.198000	0.77823	2.018000	0.59344	0.313000	0.20887	CGT	G|1.000;A|0.000	.	alt		0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21331570	G	T	21331570	3	4	26	1	0	0	0	0	1	0	0	0	14723	1145	40	4	560	4	SLCO1B1	12	21331570	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	15246246	21331570	112520325	64	21655										
KRT2	3849	hgsc.bcm.edu	37	chr12	53045601	53045603	+	In_Frame_Del	DEL	CTG	CTG	-													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctccaccgaaaccaccaccaCtgaagccgctgccacctcca					rs369691469		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr12:53045601_53045603delCTG	ENST00000309680.3	-	1	345_347	c.324_326delCAG	c.(322-327)ttcagt>ttt	p.S109del		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	109	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		accaccaccactgaagccgctgc	0.635																																					p.109_109del		Atlas-Indel	.											.	KRT2	94	.	0			c.325_327del						PASS	.			45,4193		0,45,2074						-3.5	0.4		dbSNP_126	33	375,7857		0,375,3741	no	coding	KRT2	NM_000423.2		0,420,5815	A1A1,A1R,RR		4.5554,1.0618,3.3681				420,12050				SO:0001651	inframe_deletion	3849	exon1			.		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.324_326delCAG	12.37:g.53045601_53045603delCTG	ENSP00000310861:p.Ser109del	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	120	17	0.141667	NM_000423	Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	CCDS8835.1																																																																																			.	.	weak		0.635	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		-	53045603	CTG	-	53045601	7	5	26	1	0	1	0	1	0	0	0	0	8457	565	20	0	1629	0	KRT2	12	53045601	In_Frame_Del	DEL	CTG	TCGA-GR-A4D6-01A-11D-A31X-10	31714031	53045601	80806294	65	21656										
KRT2	3849	hgsc.bcm.edu	37	chr12	53045651	53045653	+	In_Frame_Del	DEL	TCT	TCT	-													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccgcctccaaaaccacctccTctgccaccaaatccaccagc							TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr12:53045651_53045653delTCT	ENST00000309680.3	-	1	295_297	c.274_276delAGA	c.(274-276)agadel	p.R92del		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	92	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		aaccacctcctctgccaccaaat	0.611																																					p.92_93del		Atlas-Indel	.											.	KRT2	94	.	0			c.275_277del						PASS	.																																			SO:0001651	inframe_deletion	3849	exon1			.		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.274_276delAGA	12.37:g.53045651_53045653delTCT	ENSP00000310861:p.Arg92del	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	97	10	0.103093	NM_000423	Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	CCDS8835.1																																																																																			.	.	none		0.611	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		-	53045653	TCT	-	53045651	7	5	26	1	0	1	0	1	0	0	0	0	8457	1548	54	0	1679	0	KRT2	12	53045651	In_Frame_Del	DEL	TCT	TCGA-GR-A4D6-01A-11D-A31X-10	50	53045651	80806244	66	21657										
KDM2B	84678	hgsc.bcm.edu	37	chr12	121891060	121891060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gcggcatcgcgtccggcgccGccgagctcctgccgttgtcc	14	18	0	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr12:121891060G>A	ENST00000377071.4	-	13	1894	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	KDM2B_ENST00000377069.4_Missense_Mutation_p.R577W|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.R491W	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	608					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCCGGCGCCGCCGAGCTCCT	0.706																																					p.R608W		Atlas-SNP	.											.	KDM2B	218	.	0			c.C1822T						PASS	.						10	13	12					12																	121891060		1945	4112	6057	SO:0001583	missense	84678	exon13			GGCGCCGCCGAGC	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1822C>T	12.37:g.121891060G>A	ENSP00000366271:p.Arg608Trp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	44	11	0.25	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900662	0.72754	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.54675	1.97;1.38;0.56	5.18	0.934	0.19477	Zinc finger, CXXC-type (2);	0.000000	0.47852	D	0.000201	T	0.71134	0.3304	M	0.87547	2.89	0.47245	D	0.999366	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.971;0.999;0.971;0.999	T	0.72001	-0.4422	10	0.87932	D	0	-18.2694	9.0059	0.36111	0.0676:0.0:0.5518:0.3806	.	48;491;608;577;48	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	W	608;577;608;491;608;48;608	ENSP00000366269:R577W;ENSP00000366271:R608W;ENSP00000445196:R491W	ENSP00000261824:R608W	R	-	1	2	KDM2B	120375443	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.788000	0.38714	0.298000	0.22638	-0.266000	0.10368	CGG	.	.	none		0.706	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	121891060	G	A	121891060	3	1	26	1	0	0	0	0	1	0	0	0	8125	1086	38	1	2284	1	KDM2B	12	121891060	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	68845409	121891060	11960835	67	21658										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	755	9	0.0119205		WXS	Illumina HiSeq	Phase_I	629	12	0.0190779	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	26	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10		20056679	95113199	68	21659										
LRFN5	145581	hgsc.bcm.edu	37	chr14	42356300	42356300	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agctggatctgtcctataatAatctagaaaccattccttgg	7	9	2	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr14:42356300A>C	ENST00000298119.4	+	3	1661	c.472A>C	c.(472-474)Aat>Cat	p.N158H	LRFN5_ENST00000554171.1_Missense_Mutation_p.N158H|LRFN5_ENST00000554120.1_Missense_Mutation_p.N158H	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	158						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCCTATAATAATCTAGAAAC	0.398										HNSCC(30;0.082)																											p.N158H		Atlas-SNP	.											LRFN5,NS,carcinoma,0,1	LRFN5	269	1	0			c.A472C						scavenged	.						83	72	76					14																	42356300		2203	4300	6503	SO:0001583	missense	145581	exon3			TATAATAATCTAG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.472A>C	14.37:g.42356300A>C	ENSP00000298119:p.Asn158His	Somatic	67	1	0.0149254		WXS	Illumina HiSeq	Phase_I	55	15	0.272727	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288566	0.59976	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.92249	-3.0;-3.0;-3.0	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.92251	0.7542	N	0.17800	0.525	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	D	0.92871	0.6314	10	0.51188	T	0.08	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	158;158	G3V364;Q96NI6	.;LRFN5_HUMAN	H	158	ENSP00000298119:N158H;ENSP00000451897:N158H;ENSP00000451067:N158H	ENSP00000298119:N158H	N	+	1	0	LRFN5	41426050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	AAT	.	.	none		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		C	42356300	A	C	42356300	3	2	26	1	0	0	0	0	1	0	0	0	8941	362	13	5	474	5	LRFN5	14	42356300	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10		42356300	64993240	69	21660										
MTHFD1	4522	hgsc.bcm.edu	37	chr14	64882380	64882380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gactagcatcaatgctgggaAacttgctagaggtgacctca	11	9	2	2	rs1950902	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr14:64882380A>G	ENST00000545908.1	+	6	798	c.569A>G	c.(568-570)aAa>aGa	p.K190R	MTHFD1_ENST00000216605.8_Missense_Mutation_p.K134R			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	134	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	aatgctgggaaacttgctaga	0.363													A|||	4124	0.823482	0.8616	0.9107	5008	,	,		22898	0.6448		0.7962	False		,,,				2504	0.9223				p.K134R	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Atlas-SNP	.											MTHFD1,tonsil,carcinoma,0,1	MTHFD1	61	1	0			c.A401G	GRCh37	CM065321	MTHFD1	M	rs1950902	scavenged	.	A	ARG/LYS	3728,678	763.1+/-413.2	1567,594,42	80	73	75		401	5.1	1	14	dbSNP_92	75	7087,1513	747.6+/-407.3	2928,1231,141	yes	missense	MTHFD1	NM_005956.3	26	4495,1825,183	GG,GA,AA		17.593,15.3881,16.8461	benign	134/936	64882380	10815,2191	2203	4300	6503	SO:0001583	missense	4522	exon6			CTGGGAAACTTGC	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.569A>G	14.37:g.64882380A>G	ENSP00000438588:p.Lys190Arg	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	117	3	0.025641	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		1768	0.8095238095238095	420	0.8536585365853658	326	0.9005524861878453	416	0.7272727272727273	606	0.7994722955145118	A	12.12	1.841279	0.32513	0.846119	0.82407	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999360405	B;B	0.14012	0.003;0.009	B;B	0.17098	0.009;0.017	T	0.28396	-1.0045	8	0.08599	T	0.76	-21.4612	15.1283	0.72500	1.0:0.0:0.0:0.0	rs1950902;rs2070262;rs17854633;rs17858060;rs52808281;rs57359350;rs1950902	190;134	F5H2F4;G3V2B8	.;.	R	190;134;190;114	ENSP00000438588:K190R;ENSP00000450560:K134R;ENSP00000216605:K190R;ENSP00000451309:K114R	ENSP00000216605:K134R	K	+	2	0	MTHFD1	63952133	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	8.820000	0.92003	2.032000	0.59987	0.374000	0.22700	AAA	G|0.827;N|0.000	0.827	strong		0.363	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			G	64882380	A	G	64882380	3	3	26	1	0	0	0	0	1	0	0	0	9927	14	1	2	423	2	MTHFD1	14	64882380	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	22526080	64882380	42467160	70	21661										
LINS1	55180	hgsc.bcm.edu	37	chr15	101113950	101113950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctaaggatcacatgatctggActagtgataagttcacattc	8	8	3	2	rs12592868	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr15:101113950A>G	ENST00000314742.8	-	5	1350	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	LINS_ENST00000561308.1_Silent_p.S376S|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Silent_p.S257S	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	376								p.S376S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CATGATCTGGACTAGTGATAA	0.353													A|||	1640	0.327476	0.2973	0.2507	5008	,	,		20927	0.246		0.4513	False		,,,				2504	0.3793				p.S376S		Atlas-SNP	.											LINS,NS,carcinoma,0,1	LINS	62	1	1	Substitution - coding silent(1)	stomach(1)	c.T1128C						scavenged	.	A		1415,2991	461.3+/-352.9	206,1003,994	94	88	90		1128	-0.9	0.8	15	dbSNP_120	90	4040,4560	556.5+/-386.9	961,2118,1221	no	coding-synonymous	LINS	NM_001040616.2		1167,3121,2215	GG,GA,AA		46.9767,32.1153,41.9422		376/758	101113950	5455,7551	2203	4300	6503	SO:0001819	synonymous_variant	55180	exon5			ATCTGGACTAGTG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1128T>C	15.37:g.101113950A>G		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	143	3	0.020979	NM_001040616	Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																			A|0.609;G|0.391	0.391	strong		0.353	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		G	101113950	A	G	101113950	2	3	26	1	0	0	0	0	0	0	0	1	8818	272	10	2		2	LINS1	15	101113950	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10		101113950	1417442	71	21662										
C16orf93	90835	hgsc.bcm.edu	37	chr16	30770512	30770512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cccttacccgtctcactctcTggccacagtttgggtggctg	10	15	2	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr16:30770512T>C	ENST00000543610.1	-	7	1675	c.714A>G	c.(712-714)ccA>ccG	p.P238P	PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron|RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Silent_p.P303P	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	238										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCTCACTCTCTGGCCACAGTT	0.597																																					p.P238P		Atlas-SNP	.											.	C16orf93	33	.	0			c.A714G						PASS	.						68	70	70					16																	30770512		2197	4300	6497	SO:0001819	synonymous_variant	90835	exon7			ACTCTCTGGCCAC	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.714A>G	16.37:g.30770512T>C		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	51	12	0.235294	NM_001014979	A1A4V8|F5GX13|Q569G2	Silent	SNP	ENST00000543610.1	37	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199509	0.09652	.	.	ENSG00000196118	ENST00000535476	.	.	.	5.12	2.78	0.32641	.	.	.	.	.	T	0.51686	0.1689	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.39563	-0.9608	4	.	.	.	-0.303	4.4208	0.11479	0.1727:0.094:0.0:0.7333	.	.	.	.	R	135	.	.	Q	-	2	0	C16orf93	30678013	0.438000	0.25602	0.578000	0.28575	0.575000	0.36095	0.133000	0.15912	0.327000	0.23409	0.533000	0.62120	CAG	.	.	none		0.597	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		C	30770512	T	C	30770512	2	2	26	1	0	0	0	0	0	0	0	1	1846	1567	55	3		3	C16orf93	16	30770512	Silent	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10		30770512	59584241	72	21663										
CNOT1	23019	hgsc.bcm.edu	37	chr16	58577327	58577327	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	atataacagaaaaaaaaaaaAacacacagacatgatgcttt	4	6	0	3	rs556592424		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr16:58577327A>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000441024.2_Missense_Mutation_p.F1540V|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaaaacacacagac	0.299													A|||	1	0.000199681	0.0	0.0	5008	,	,		18548	0.0		0.001	False		,,,				2504	0.0				p.F1540V		Atlas-SNP	.											CNOT1_ENST00000441024,caecum,carcinoma,0,1	CNOT1	359	1	0			c.T4618G						scavenged	.						20	20	20					16																	58577327		1013	2122	3135	SO:0001627	intron_variant	23019	exon31			AAAAAAAACACAC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+183T>G	16.37:g.58577327A>C		Somatic	215	2	0.00930233		WXS	Illumina HiSeq	Phase_I	188	8	0.0425532	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119968	0.08881	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	1.6	-3.2	0.05156	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	8	0.87932	D	0	.	5.872	0.18809	0.2548:0.5872:0.158:0.0	.	1540	A5YKK6-4	.	V	1540	ENSP00000413113:F1540V	ENSP00000413113:F1540V	F	-	1	0	CNOT1	57134828	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.507000	0.22675	-2.105000	0.00842	-1.344000	0.01245	TTT	.	.	none		0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58577327	A	C	58577327	1	2	26	0	1	0	0	0	0	0	0	0	3617	14	1	5		5	CNOT1	16	58577327	Intron	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	27806815	58577327	31777426	73	21664										
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89347228	89347228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ggaggtgtccaggtccggggGaagggccccttcgagggaag	20	9	0	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr16:89347228G>A	ENST00000301030.4	-	9	6182	c.5722C>T	c.(5722-5724)Ccc>Tcc	p.P1908S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1908S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1908	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGTCCGGGGGAAGGGCCCCT	0.662																																					p.P1908S		Atlas-SNP	.											.	ANKRD11	195	.	0			c.C5722T						PASS	.						30	36	34					16																	89347228		2196	4296	6492	SO:0001583	missense	29123	exon9			CCGGGGGAAGGGC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5722C>T	16.37:g.89347228G>A	ENSP00000301030:p.Pro1908Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	82	24	0.292683	NM_001256183	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	16.17	3.048706	0.55110	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.78	2.7	0.31948	.	0.169886	0.38111	N	0.001806	T	0.32224	0.0822	L	0.36672	1.1	0.80722	D	1	P	0.50066	0.931	B	0.41374	0.355	T	0.02743	-1.1116	10	0.24483	T	0.36	.	14.1122	0.65129	0.0:0.288:0.7119:0.0	.	1908	Q6UB99	ANR11_HUMAN	S	1908	ENSP00000301030:P1908S;ENSP00000367581:P1908S	ENSP00000301030:P1908S	P	-	1	0	ANKRD11	87874729	1.000000	0.71417	0.926000	0.36857	0.821000	0.46438	5.071000	0.64382	0.377000	0.24735	0.450000	0.29827	CCC	.	.	none		0.662	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89347228	G	A	89347228	3	1	26	1	0	0	0	0	1	0	0	0	639	1174	41	2	2289	2	ANKRD11	16	89347228	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	30769901	89347228	1007525	74	21665										
MYH1	4619	hgsc.bcm.edu	37	chr17	10399327	10399327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agctcctgttctgcgattttCctgctcctctctgtctgttc	7	14	3	0	rs149731873	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr17:10399327C>T	ENST00000226207.5	-	35	5203	c.5109G>A	c.(5107-5109)agG>agA	p.R1703R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1703					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1703R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCGATTTTCCTGCTCCTCT	0.542													C|||	5	0.000998403	0.0008	0.0	5008	,	,		16305	0.002		0.002	False		,,,				2504	0.0				p.R1703R		Atlas-SNP	.											MYH1,NS,carcinoma,0,1	MYH1	403	1	1	Substitution - coding silent(1)	kidney(1)	c.G5109A						scavenged	.						102	92	96					17																	10399327		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon35			GATTTTCCTGCTC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5109G>A	17.37:g.10399327C>T		Somatic	73	1	0.0136986		WXS	Illumina HiSeq	Phase_I	60	4	0.0666667	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			C|0.999;T|0.001	0.001	strong		0.542	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10399327	C	T	10399327	2	4	26	1	0	0	0	0	0	0	0	1	10029	854	30	2		2	MYH1	17	10399327	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		10399327	70795883	75	21666										
ATAD5	79915	hgsc.bcm.edu	37	chr17	29167653	29167653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aggcaagcaatacttcaaaaAacatatcaaaagcaaaacaa	4	8	2	0	rs3764421	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr17:29167653A>C	ENST00000321990.4	+	4	2473	c.2095A>C	c.(2095-2097)Aac>Cac	p.N699H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	699			N -> H (in dbSNP:rs3764421).		cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACTTCAAAAAACATATCAAA	0.284													A|||	722	0.144169	0.0711	0.1859	5008	,	,		15768	0.1359		0.1074	False		,,,				2504	0.2597				p.N699H		Atlas-SNP	.											ATAD5,NS,carcinoma,0,1	ATAD5	150	1	0			c.A2095C						scavenged	.	A	HIS/ASN	320,4086	147.6+/-182.1	15,290,1898	79	85	83		2095	5.9	1	17	dbSNP_107	83	890,7710	175.5+/-225.5	37,816,3447	yes	missense	ATAD5	NM_024857.3	68	52,1106,5345	CC,CA,AA		10.3488,7.2628,9.3034	possibly-damaging	699/1845	29167653	1210,11796	2203	4300	6503	SO:0001583	missense	79915	exon4			TCAAAAAACATAT		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2095A>C	17.37:g.29167653A>C	ENSP00000313171:p.Asn699His	Somatic	387	2	0.00516796		WXS	Illumina HiSeq	Phase_I	360	5	0.0138889	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	274	0.12545787545787546	45	0.09146341463414634	65	0.17955801104972377	92	0.16083916083916083	72	0.09498680738786279	A	12.78	2.039141	0.35989	0.072628	0.103488	ENSG00000176208	ENST00000321990	T	0.09817	2.94	5.9	5.9	0.94986	.	0.925252	0.09360	N	0.812877	T	0.00073	0.0002	M	0.61703	1.905	0.28364	P	0.9203312	D;D	0.71674	0.996;0.998	D;D	0.65874	0.939;0.915	T	0.01795	-1.1272	9	0.72032	D	0.01	.	16.3155	0.82918	1.0:0.0:0.0:0.0	rs3764421;rs52792999;rs59938755;rs3764421	699;699	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	699	ENSP00000313171:N699H	ENSP00000313171:N699H	N	+	1	0	ATAD5	26191779	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.491000	0.60326	2.260000	0.74910	0.528000	0.53228	AAC	A|0.885;C|0.115	0.115	strong		0.284	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29167653	A	C	29167653	3	2	26	1	0	0	0	0	1	0	0	0	1076	14	1	5	2109	5	ATAD5	17	29167653	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	18768326	29167653	52027557	76	21667										
SYNRG	11276	hgsc.bcm.edu	37	chr17	35913676	35913676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aggaacaggactggcttcctCtttaagggcatcatatttgt	10	8	2	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr17:35913676C>T	ENST00000339208.6	-	14	2289	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Missense_Mutation_p.E556K|SYNRG_ENST00000585472.1_Missense_Mutation_p.E638K|SYNRG_ENST00000502449.2_Missense_Mutation_p.E639K|SYNRG_ENST00000394378.2_Missense_Mutation_p.E639K|SYNRG_ENST00000346661.4_Missense_Mutation_p.E717K|SYNRG_ENST00000345615.4_Missense_Mutation_p.E639K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	717	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGCTTCCTCTTTAAGGGCA	0.473																																					p.E717K		Atlas-SNP	.											.	SYNRG	101	.	0			c.G2149A						PASS	.						54	55	54					17																	35913676		2203	4300	6503	SO:0001583	missense	11276	exon14			CTTCCTCTTTAAG	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2149G>A	17.37:g.35913676C>T	ENSP00000343610:p.Glu717Lys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	73	7	0.0958904	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603368	0.66445	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T;T	0.50548	1.48;1.15;0.74;0.9;0.9	6.17	6.17	0.99709	.	0.196730	0.53938	D	0.000058	T	0.38585	0.1046	L	0.54323	1.7	0.39716	D	0.971399	P;B;B;B;P;P	0.47762	0.57;0.317;0.317;0.317;0.9;0.9	B;B;B;B;B;B	0.39258	0.255;0.228;0.228;0.228;0.295;0.295	T	0.22591	-1.0212	10	0.16420	T	0.52	-12.6231	10.2468	0.43345	0.0:0.7921:0.1368:0.071	.	556;639;639;639;717;717	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	K	717;556;717;639;639	ENSP00000005279:E717K;ENSP00000343610:E556K;ENSP00000315722:E717K;ENSP00000424893:E639K;ENSP00000377903:E639K	ENSP00000343610:E556K	E	-	1	0	SYNRG	32987789	0.729000	0.28090	0.990000	0.47175	0.951000	0.60555	1.279000	0.33191	2.941000	0.99782	0.655000	0.94253	GAG	.	.	none		0.473	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		T	35913676	C	T	35913676	3	4	26	1	0	0	0	0	1	0	0	0	15457	922	32	2	1904	2	SYNRG	17	35913676	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	6746023	35913676	45281534	77	21668										
KRTAP4-3	85290	hgsc.bcm.edu	37	chr17	39324104	39324104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	caggaaggcctgcagcaactAgaaatgcagcagctggggcg	15	10	0	1	rs368619075		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr17:39324104A>G	ENST00000391356.2	-	1	320	c.321T>C	c.(319-321)tcT>tcC	p.S107S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	107	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		Missing (in allele KAP3-v2). {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S107S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAACTAGAAATGCAGC	0.597																																					p.S107S		Atlas-SNP	.											KRTAP4-3,colon,carcinoma,0,1	KRTAP4-3	40	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T321C						scavenged	.						18	23	21					17																	39324104		2109	4252	6361	SO:0001819	synonymous_variant	85290	exon1			GCAACTAGAAATG	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.321T>C	17.37:g.39324104A>G		Somatic	178	4	0.0224719		WXS	Illumina HiSeq	Phase_I	188	8	0.0425532	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			.	.	weak		0.597	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324104	A	G	39324104	2	3	26	1	0	0	0	0	0	0	0	1	8552	407	15	3		3	KRTAP4-3	17	39324104	Silent	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	3410428	39324104	41871106	78	21669										
THOC1	9984	hgsc.bcm.edu	37	chr18	246400	246400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cttccatcttttttcttgagGcctgagtatcatctaattta	5	9	4	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr18:246400G>T	ENST00000261600.6	-	11	849	c.842C>A	c.(841-843)gCc>gAc	p.A281D	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	281					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTCTTGAGGCCTGAGTATC	0.264																																					p.A281D		Atlas-SNP	.											THOC1,colon,carcinoma,-1,1	THOC1	43	1	0			c.C842A						scavenged	.						47	47	47					18																	246400		1786	4047	5833	SO:0001583	missense	9984	exon11			CTTGAGGCCTGAG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.842C>A	18.37:g.246400G>T	ENSP00000261600:p.Ala281Asp	Somatic	568	1	0.00176056		WXS	Illumina HiSeq	Phase_I	639	9	0.0140845	NM_005131	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303538	0.81136	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.67382	0.918;0.951	T	0.73007	-0.4118	9	0.23302	T	0.38	-6.4058	20.0784	0.97758	0.0:0.0:1.0:0.0	.	281;281	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	281	.	ENSP00000261600:A281D	A	-	2	0	THOC1	236400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.450000	0.97607	2.736000	0.93811	0.655000	0.94253	GCC	.	.	none		0.264	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		T	246400	G	T	246400	3	4	26	1	0	0	0	0	1	0	0	0	15861	1203	42	4	1175	4	THOC1	18	246400	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10		246400	77830848	79	21670										
CNN2	1265	hgsc.bcm.edu	37	chr19	1037764	1037764	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ggccaggtcttcggcctgggCcggcagatatatgaccccaa	13	13	1	2			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:1037764C>G	ENST00000263097.4	+	7	1158	c.795C>G	c.(793-795)ggC>ggG	p.G265G	ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Silent_p.G286G|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000565096.2_Silent_p.G254G|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Silent_p.G226G	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	265					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		TCGGCCTGGGCCGGCAGATAT	0.652																																					p.G265G		Atlas-SNP	.											.	CNN2	26	.	0			c.C795G						PASS	.						70	81	77					19																	1037764		2200	4288	6488	SO:0001819	synonymous_variant	1265	exon7			CCTGGGCCGGCAG	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.795C>G	19.37:g.1037764C>G		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	108	26	0.240741	NM_004368	A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	CCDS12053.1																																																																																			.	.	none		0.652	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		G	1037764	C	G	1037764	2	3	26	1	0	0	0	0	0	0	0	1	3610	726	26	4		4	CNN2	19	1037764	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		1037764	58091219	80	21671										
PLIN4	729359	hgsc.bcm.edu	37	chr19	4511540	4511737	+	In_Frame_Del	DEL	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	-													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cacccatctggacggcccccTtggccacattcgcagcaccg					rs7256387|rs368903378|rs202212610|rs555549345|rs201329270|rs201141051|rs78467378|rs75876308|rs200355083|rs199877521|rs577186284|rs75029810|rs115045260|rs113780287|rs370832479|rs368212787|rs577122808|rs538065591|rs373392114|rs77044499|rs62115187|rs62115186|rs386806135|rs386806134|rs62115189|rs62115188|rs546272975|rs201668625|rs386806136|rs62115185|rs556468881|rs113633295|rs548397251|rs113361848|rs78884463|rs560157750|rs539807788|rs542057395|rs555134306|rs539973505|rs560697989|rs76022477|rs377284048|rs28546567|rs62115190|rs562810671|rs534038291|rs374575535|rs57610751|rs77582974|rs73920825|rs201218860|rs372120790|rs200701465|rs369867902|rs112673009|rs545793182	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:4511540_4511737delTTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	ENST00000301286.3	-	3	2192_2389	c.2193_2390delAGGGGCCATCCAAGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGATGCTGTGTCCACTGGGCTCACAGGGGCTGTGAAGTTGGCCAAAGGGACTGTCCAGACCGGCATGGACACCACCAAGACTGTGTTAACTGGTACCAAGGATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAA	c.(2191-2391)aaaggggccatccaagggggcctggacactacaaagtctgtcctgactggcactaaagatgctgtgtccactgggctcacaggggctgtgaagttggccaaagggactgtccagaccggcatggacaccaccaagactgtgttaactggtaccaaggatgctgtgtgcagtggggtgaccggtgctgcgaatgtggccaag>aag	p.731_797KGAIQGGLDTTKSVLTGTKDAVSTGLTGAVKLAKGTVQTGMDTTKTVLTGTKDAVCSGVTGAANVAK>K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	731	27 X 33 AA approximate tandem repeat.		K -> N (in dbSNP:rs7256387). {ECO:0000269|PubMed:11572484}.	I -> V (in Ref. 2; BAB67774). {ECO:0000305}.		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						GACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCTTTGGCCACAT	0.595																																					p.732_797del		Pindel	.											.	PLIN4	191	.	0			c.2194_2391del						PASS	.																																			SO:0001651	inframe_deletion	729359	exon3			.	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.2193_2390delAGGGGCCATCCAAGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGATGCTGTGTCCACTGGGCTCACAGGGGCTGTGAAGTTGGCCAAAGGGACTGTCCAGACCGGCATGGACACCACCAAGACTGTGTTAACTGGTACCAAGGATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAA	19.37:g.4511540_4511737delTTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	ENSP00000301286:p.Lys731_Ala796del	Somatic	78	.	.		WXS	Illumina HiSeq	Phase_I	94	17	0.181	NM_001080400	A6NEI2	In_Frame_Del	DEL	ENST00000301286.3	37	CCDS45927.1																																																																																			.	.	none		0.595	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		-	4511737	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	-	4511540	7	5	26	1	0	1	0	1	0	0	0	0	12092	1609	56	0	1699	0	PLIN4	19	4511540	In_Frame_Del	DEL	TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT	TCGA-GR-A4D6-01A-11D-A31X-10	3473776	4511540	54617443	81	21672										
PLIN5	440503	hgsc.bcm.edu	37	chr19	4529195	4529195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tcagctccacgctccagcgcCggcccctccgggccaggtcc	11	21	1	0			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:4529195C>T	ENST00000381848.3	-	5	490	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	137	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)		p.R137Q(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCTCCAGCGCCGGCCCCTCCG	0.642																																					p.R137Q		Atlas-SNP	.											PLIN5,NS,carcinoma,0,1	PLIN5	27	1	1	Substitution - Missense(1)	endometrium(1)	c.G410A						scavenged	.						62	71	68					19																	4529195		2059	4196	6255	SO:0001583	missense	440503	exon5			CAGCGCCGGCCCC	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.410G>A	19.37:g.4529195C>T	ENSP00000371272:p.Arg137Gln	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	109	3	0.0275229	NM_001013706	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.537006	0.85812	.	.	ENSG00000214456	ENST00000381848	T	0.05649	3.41	4.83	4.83	0.62350	.	1.606760	0.04872	U	0.446127	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00013	-1.2413	10	0.62326	D	0.03	-29.6221	13.401	0.60883	0.0:1.0:0.0:0.0	.	137	Q00G26	PLIN5_HUMAN	Q	137	ENSP00000371272:R137Q	ENSP00000371272:R137Q	R	-	2	0	PLIN5	4480195	0.984000	0.35163	1.000000	0.80357	0.908000	0.53690	1.885000	0.39678	2.252000	0.74401	0.561000	0.74099	CGG	.	.	none		0.642	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		T	4529195	C	T	4529195	3	4	26	1	0	0	0	0	1	0	0	0	12093	652	23	1	997	1	PLIN5	19	4529195	Missense_Mutation	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	17655	4529195	54599788	82	21673										
INSR	3643	hgsc.bcm.edu	37	chr19	7174667	7174667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agctcctgggcagacgtcacCgagtcgatggtcttctcgcc	12	14	3	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:7174667C>T	ENST00000302850.5	-	4	1192	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	INSR_ENST00000341500.5_Silent_p.S350S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	350			S -> L (in RMS and LEPRCH). {ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:8314008}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGACGTCACCGAGTCGATGG	0.602																																					p.S350S		Atlas-SNP	.											.	INSR	265	.	0			c.G1050A						PASS	.						109	80	90					19																	7174667		2203	4300	6503	SO:0001819	synonymous_variant	3643	exon4			CGTCACCGAGTCG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1050G>A	19.37:g.7174667C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	75	13	0.173333	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																			.	.	none		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			T	7174667	C	T	7174667	2	4	26	1	0	0	0	0	0	0	0	1	7773	639	23	1		1	INSR	19	7174667	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10	2645472	7174667	51954316	83	21674										
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	22	1	0	5	rs77563879		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E		Atlas-SNP	.											PRKCSH,caecum,carcinoma,0,1	PRKCSH	55	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A						PASS	.						27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_001001329	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.	.	weak		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	26	1	0	0	0	0	0	0	0	1	12516	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	4383703	11558370	47570613	84	21675										
JUNB	3726	hgsc.bcm.edu	37	chr19	12902785	12902785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agagggcggcggtggcggcaGctacttttctggtcagggct	18	9	2	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:12902785G>A	ENST00000302754.4	+	1	476	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	67					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						GGTGGCGGCAGCTACTTTTCT	0.672																																					p.S67N		Atlas-SNP	.											.	JUNB	14	.	0			c.G200A						PASS	.						12	13	13					19																	12902785		2200	4293	6493	SO:0001583	missense	3726	exon1			GCGGCAGCTACTT	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.200G>A	19.37:g.12902785G>A	ENSP00000303315:p.Ser67Asn	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	69	20	0.289855	NM_002229	Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050854	0.36181	.	.	ENSG00000171223	ENST00000302754	T	0.29655	1.56	4.25	3.1	0.35709	Jun-like transcription factor (1);	.	.	.	.	T	0.20373	0.0490	N	0.25485	0.75	0.33704	D	0.614893	B	0.28820	0.224	B	0.26094	0.066	T	0.17107	-1.0380	9	0.17369	T	0.5	-16.9799	13.1068	0.59252	0.0:0.1633:0.8367:0.0	.	67	P17275	JUNB_HUMAN	N	67	ENSP00000303315:S67N	ENSP00000303315:S67N	S	+	2	0	JUNB	12763785	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.201000	0.42734	2.300000	0.77407	0.549000	0.68633	AGC	.	.	none		0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		A	12902785	G	A	12902785	3	1	26	1	0	0	0	0	1	0	0	0	7970	971	34	2	202	2	JUNB	19	12902785	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	1344415	12902785	46226198	85	21676										
TPRX1	284355	hgsc.bcm.edu	37	chr19	48305613	48305624	+	In_Frame_Del	DEL	TTGGGCCTGAGA	TTGGGCCTGAGA	-													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gcctgggatcgggcctgggtTtgggcctgagattgggcctg					rs201007421		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	TTGGGCCTGAGA	TTGGGCCTGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:48305613_48305624delTTGGGCCTGAGA	ENST00000322175.3	-	2	799_810	c.644_655delTCTCAGGCCCAA	c.(643-657)atctcaggcccaaac>aac	p.ISGP215del	TPRX1_ENST00000535759.1_In_Frame_Del_p.ISGP312del|TPRX1_ENST00000543508.1_In_Frame_Del_p.ISGP205del	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	215	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gggcctgggtttgggcctgagattgggcctga	0.67																																					p.215_219del	Esophageal Squamous(123;175 2281 3051 32395)	Atlas-Indel	.											TPRX1,NS,carcinoma,0,1	TPRX1	46	1	0			c.645_656del						PASS	.																																			SO:0001651	inframe_deletion	284355	exon2			.		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.644_655delTCTCAGGCCCAA	19.37:g.48305613_48305624delTTGGGCCTGAGA	ENSP00000323455:p.Ile215_Pro218del	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_198479	A5D8Y3|B2RPL5	In_Frame_Del	DEL	ENST00000322175.3	37	CCDS33066.1																																																																																			.	.	none		0.67	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		-	48305624	TTGGGCCTGAGA	-	48305613	7	5	26	1	0	1	0	1	0	0	0	0	16419	1841	64	0	584	0	TPRX1	19	48305613	In_Frame_Del	DEL	TTGGGCCTGAGA	TCGA-GR-A4D6-01A-11D-A31X-10	35402828	48305613	10823370	86	21677										
LILRB1	10859	hgsc.bcm.edu	37	chr19	55148031	55148031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agagaaatggcctctcctccTtccccactgtctggggaatt	9	13	2	1	rs41308746	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:55148031T>C	ENST00000396331.1	+	15	2091	c.1734T>C	c.(1732-1734)ccT>ccC	p.P578P	LILRB1_ENST00000427581.2_Silent_p.P629P|LILRB1_ENST00000324602.7_Silent_p.P580P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Silent_p.P578P|LILRB1_ENST00000396317.1_Silent_p.P562P|LILRB1_ENST00000418536.2_Silent_p.P562P|LILRB1_ENST00000396332.4_Silent_p.P579P|LILRB1_ENST00000396315.1_Silent_p.P580P|LILRB1_ENST00000434867.2_Silent_p.P578P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Silent_p.P579P|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCCTCCTTCCCCACTGT	0.582										HNSCC(37;0.09)			t|||	554	0.110623	0.1785	0.0893	5008	,	,		16680	0.0139		0.1491	False		,,,				2504	0.0941				p.P580P		Atlas-SNP	.											LILRB1,NS,carcinoma,+2,1	LILRB1	140	1	0			c.T1740C						scavenged	.						111	95	100					19																	55148031		2200	4295	6495	SO:0001819	synonymous_variant	10859	exon14			TCCTCCTTCCCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1734T>C	19.37:g.55148031T>C		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	188	4	0.0212766	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																			.	.	weak		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55148031	T	C	55148031	2	2	26	1	0	0	0	0	0	0	0	1	8790	1596	56	3		3	LILRB1	19	55148031	Silent	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	6842418	55148031	3980952	87	21678										
ZSCAN5A	79149	hgsc.bcm.edu	37	chr19	56736100	56736100	+	Missense_Mutation	SNP	T	T	C													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	gcagctctgcacaccgttcaTcatgactaagacctggagct					rs200493184		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:56736100T>C	ENST00000587340.1	-	4	1011	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M106V|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M106V			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M106V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACACCGTTCATCATGACTAAG	0.547																																					p.M106V		Atlas-SNP	.											ZSCAN5A,trunk,malignant_melanoma,0,2	ZSCAN5A	118	2	2	Substitution - Missense(2)	skin(2)	c.A316G						scavenged	.						19	19	19					19																	56736100		2139	4211	6350	SO:0001583	missense	79149	exon2			CGTTCATCATGAC	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.316A>G	19.37:g.56736100T>C	ENSP00000467631:p.Met106Val	Somatic	279	1	0.00358423		WXS	Illumina HiSeq	Phase_I	278	4	0.0143885	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.996233	0.00435	.	.	ENSG00000131848	ENST00000391713	T	0.04083	3.71	2.27	0.0345	0.14184	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02119	0.0066	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47142	-0.9140	9	0.29301	T	0.29	.	4.2945	0.10895	0.0:0.6121:0.0:0.3879	.	106	Q9BUG6	ZSA5A_HUMAN	V	106	ENSP00000375593:M106V	ENSP00000375593:M106V	M	-	1	0	ZSCAN5A	61427912	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.069000	0.14552	0.068000	0.16574	-0.415000	0.06103	ATG	.	.	weak		0.547	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		C	56736100	T	C	56736100	3	2	26	1	0	0	0	0	1	0	0	0	18235	1435	50	2	1190	2	ZSCAN5A	19	56736100	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10	1588069	56736100	2392883	88	21679	436	2								
ZSCAN5A	79149	hgsc.bcm.edu	37	chr19	56736102	56736102	+	Missense_Mutation	SNP	A	A	T													0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	agctctgcacaccgttcatcAtgactaagacctggagctcc					rs201600248		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr19:56736102A>T	ENST00000587340.1	-	4	1009	c.314T>A	c.(313-315)aTg>aAg	p.M105K	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M105K|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M105K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M105K(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACCGTTCATCATGACTAAGAC	0.552																																					p.M105K		Atlas-SNP	.											ZSCAN5A,trunk,malignant_melanoma,0,2	ZSCAN5A	118	2	2	Substitution - Missense(2)	skin(2)	c.T314A						scavenged	.						19	19	19					19																	56736102		2141	4214	6355	SO:0001583	missense	79149	exon2			TTCATCATGACTA	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.314T>A	19.37:g.56736102A>T	ENSP00000467631:p.Met105Lys	Somatic	280	1	0.00357143		WXS	Illumina HiSeq	Phase_I	279	4	0.0143369	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.262023	0.00262	.	.	ENSG00000131848	ENST00000391713	T	0.03745	3.82	2.27	-1.24	0.09435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.00637	0.0021	N	0.00086	-2.195	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44817	-0.9303	9	0.02654	T	1	.	2.254	0.04051	0.2591:0.3296:0.0:0.4112	.	105	Q9BUG6	ZSA5A_HUMAN	K	105	ENSP00000375593:M105K	ENSP00000375593:M105K	M	-	2	0	ZSCAN5A	61427914	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.751000	0.00792	-0.413000	0.07507	-0.669000	0.03829	ATG	.	.	weak		0.552	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		T	56736102	A	T	56736102	3	4	26	1	0	0	0	0	1	0	0	0	18235	217	8	5	1192	5	ZSCAN5A	19	56736102	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	2	56736102	2392881	89	21680	436	2								
SIRPG	55423	hgsc.bcm.edu	37	chr20	1629906	1629906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ttttgattgtagattaattcCcggcctggtccaactcctct	7	11	1	2	rs6079967	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr20:1629906C>T	ENST00000303415.3	-	2	286	c.222G>A	c.(220-222)cgG>cgA	p.R74R	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Silent_p.R41R|SIRPG_ENST00000216927.4_Silent_p.R74R|SIRPG_ENST00000344103.4_Silent_p.R74R|SIRPG_ENST00000381583.2_Silent_p.R74R	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	74	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R74R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGATTAATTCCCGGCCTGGTC	0.507													t|||	1761	0.351637	0.3064	0.5058	5008	,	,		19787	0.2708		0.4394	False		,,,				2504	0.2965				p.R74R		Atlas-SNP	.											SIRPG,right_upper_lobe,carcinoma,-1,2	SIRPG	61	2	1	Substitution - coding silent(1)	stomach(1)	c.G222A						scavenged	.	T	,,	1457,2949		248,961,994	182	165	171		222,222,222	-0.1	0	20	dbSNP_114	171	3939,4661		906,2127,1267	no	coding-synonymous,coding-synonymous,coding-synonymous	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,,	1154,3088,2261	TT,TC,CC		45.8023,33.0685,41.4885	,,	74/277,74/388,74/171	1629906	5396,7610	2203	4300	6503	SO:0001819	synonymous_variant	55423	exon2			TAATTCCCGGCCT	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.222G>A	20.37:g.1629906C>T		Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	182	5	0.0274725	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																			C|0.593;T|0.407	0.407	strong		0.507	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		T	1629906	C	T	1629906	2	4	26	1	0	0	0	0	0	0	0	1	14336	610	22	2		2	SIRPG	20	1629906	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		1629906	61395614	90	21681										
BIRC7	79444	hgsc.bcm.edu	37	chr20	61870941	61870941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ccccgtccgcagccgcgtgcGcaccttcctgtcctaggcca	10	20	0	0	rs142521563		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr20:61870941G>A	ENST00000217169.3	+	6	1095	c.881G>A	c.(880-882)cGc>cAc	p.R294H	BIRC7_ENST00000342412.6_Missense_Mutation_p.R276H|BIRC7_ENST00000395306.1_Missense_Mutation_p.R189H|MIR3196_ENST00000579556.1_RNA|NKAIN4_ENST00000466885.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	294					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCCGCGTGCGCACCTTCCTG	0.721																																					p.R294H		Atlas-SNP	.											BIRC7,colon,carcinoma,0,1	BIRC7	25	1	0			c.G881A						PASS	.	G	HIS/ARG,HIS/ARG	1,4385		0,1,2192	29	26	27		827,881	3.9	1	20	dbSNP_134	27	0,8582		0,0,4291	no	missense,missense	BIRC7	NM_022161.2,NM_139317.1	29,29	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	276/281,294/299	61870941	1,12967	2193	4291	6484	SO:0001583	missense	79444	exon6			GCGTGCGCACCTT	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	13702	protein-coding gene	gene with protein product	"melanoma inhibitor of apoptosis protein", "kidney inhibitor of apoptosis protein", "livin inhibitor-of-apoptosis", "livin"	605737	"baculoviral IAP repeat-containing 7"			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.881G>A	20.37:g.61870941G>A	ENSP00000217169:p.Arg294His	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_139317	Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923510	0.52653	2.28E-4	0.0	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.56776	0.64;0.44;1.65	4.89	3.94	0.45596	.	0.000000	0.40728	N	0.001031	T	0.51669	0.1688	M	0.70275	2.135	0.58432	D	0.999999	P;P	0.52842	0.943;0.956	B;B	0.42386	0.209;0.386	T	0.58188	-0.7680	10	0.87932	D	0	.	10.498	0.44789	0.162:0.0:0.838:0.0	.	294;276	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	H	276;294;189	ENSP00000345213:R276H;ENSP00000217169:R294H;ENSP00000378717:R189H	ENSP00000217169:R294H	R	+	2	0	BIRC7	61341386	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	4.069000	0.57541	1.038000	0.40049	0.467000	0.42956	CGC	G|1.000;A|0.000	0.000	weak		0.721	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		A	61870941	G	A	61870941	3	1	26	1	0	0	0	0	1	0	0	0	1439	1087	38	1	903	1	BIRC7	20	61870941	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	60241035	61870941	1154579	91	21682										
DNMT3L	29947	hgsc.bcm.edu	37	chr21	45675970	45675970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	ctttcttgatgtcttcaaaaAgggacagcacccggactggc	10	11	3	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr21:45675970A>G	ENST00000418993.1	-	7	1067	c.584T>C	c.(583-585)cTt>cCt	p.L195P	DNMT3L_ENST00000270172.3_Missense_Mutation_p.L195P	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	195					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTCTTCAAAAAGGGACAGCAC	0.502																																					p.L195P		Atlas-SNP	.											DNMT3L,NS,carcinoma,-1,1	DNMT3L	33	1	0			c.T584C						scavenged	.						106	107	107					21																	45675970		2203	4300	6503	SO:0001583	missense	29947	exon7			TCAAAAAGGGACA	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.584T>C	21.37:g.45675970A>G	ENSP00000412862:p.Leu195Pro	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	276	3	0.0108696	NM_013369	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.462111	0.26248	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.79554	-1.28;-1.28;-1.28	3.44	3.44	0.39384	.	0.000000	0.64402	D	0.000001	D	0.88651	0.6494	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88955	0.3389	10	0.87932	D	0	-16.8446	8.4862	0.33074	1.0:0.0:0.0:0.0	.	195;195	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	P	195;195;180	ENSP00000270172:L195P;ENSP00000412862:L195P;ENSP00000400242:L180P	ENSP00000270172:L195P	L	-	2	0	DNMT3L	44500398	0.998000	0.40836	0.109000	0.21407	0.005000	0.04900	5.328000	0.65887	1.588000	0.49971	0.379000	0.24179	CTT	.	.	none		0.502	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		G	45675970	A	G	45675970	3	3	26	1	0	0	0	0	1	0	0	0	4678	72	3	3	603	3	DNMT3L	21	45675970	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10		45675970	2453925	92	21683										
TRPM2	7226	hgsc.bcm.edu	37	chr21	45825049	45825049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tctatgaccctgacgagtgcGggctgatgaagaaggcagcc	14	10	1	5	rs144022462		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr21:45825049G>A	ENST00000397928.1	+	17	3008	c.2563G>A	c.(2563-2565)Ggg>Agg	p.G855R	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.G855R|TRPM2_ENST00000300482.5_Missense_Mutation_p.G855R|TRPM2_ENST00000300481.9_Missense_Mutation_p.G835R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	855					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGACGAGTGCGGGCTGATGAA	0.537																																					p.G855R		Atlas-SNP	.											.	TRPM2	196	.	0			c.G2563A						PASS	.						200	156	171					21																	45825049		2202	4299	6501	SO:0001583	missense	7226	exon17			GAGTGCGGGCTGA	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2563G>A	21.37:g.45825049G>A	ENSP00000381023:p.Gly855Arg	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	55	12	0.218182	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	g	13.30	2.195886	0.38806	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.55	1.57	0.23409	Ion transport (1);	0.225132	0.36740	N	0.002438	T	0.52901	0.1763	M	0.70903	2.155	0.34092	D	0.660838	P;P;P	0.47106	0.731;0.89;0.604	B;B;B	0.39562	0.235;0.303;0.235	T	0.59182	-0.7502	10	0.33141	T	0.24	-18.79	6.0001	0.19515	0.0754:0.1359:0.6479:0.1408	.	855;641;855	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	R	855;855;835;855	ENSP00000300482:G855R;ENSP00000381023:G855R;ENSP00000300481:G835R;ENSP00000381026:G855R	ENSP00000300481:G835R	G	+	1	0	TRPM2	44649477	1.000000	0.71417	0.005000	0.12908	0.850000	0.48378	4.013000	0.57138	0.096000	0.17463	0.465000	0.42564	GGG	G|1.000;T|0.000	.	alt		0.537	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45825049	G	A	45825049	3	1	26	1	0	0	0	0	1	0	0	0	16583	1116	39	1	2629	1	TRPM2	21	45825049	Missense_Mutation	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	149079	45825049	2304846	93	21684										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26242205	26242205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	acctttgccagcagccttgcCgcggtgaggaggaaagcccc	13	14	0	1	rs375428629		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr22:26242205C>T	ENST00000407587.2	+	19	3679	c.3510C>T	c.(3508-3510)gcC>gcT	p.A1170A	MYO18B_ENST00000536101.1_Silent_p.A1169A|MYO18B_ENST00000335473.7_Silent_p.A1169A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1169	Myosin motor.					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						GCAGCCTTGCCGCGGTGAGGA	0.652																																					p.A1169A		Atlas-SNP	.											.	MYO18B	322	.	0			c.C3507T						PASS	.	C		1,4315		0,1,2157	71	84	80		3507	-8.6	0	22		80	0,8484		0,0,4242	no	coding-synonymous	MYO18B	NM_032608.5		0,1,6399	TT,TC,CC		0.0,0.0232,0.0078		1169/2568	26242205	1,12799	2158	4242	6400	SO:0001819	synonymous_variant	84700	exon19			CCTTGCCGCGGTG	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.3510C>T	22.37:g.26242205C>T		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	11	0.229167	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				.	.	weak		0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26242205	C	T	26242205	2	4	26	1	0	0	0	0	0	0	0	1	10066	639	23	1		1	MYO18B	22	26242205	Silent	SNP	C	TCGA-GR-A4D6-01A-11D-A31X-10		26242205	25062361	94	21685										
APOBEC3F	200316	hgsc.bcm.edu	37	chr22	39441197	39441197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	tgcaggctgagtcaggcaggGgcccgcgtgaagattatgga	17	8	1	3	rs200983508	byFrequency	TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr22:39441197G>A	ENST00000308521.5	+	3	780	c.423G>A	c.(421-423)ggG>ggA	p.G141G	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	141					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G141G(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GTCAGGCAGGGGCCCGCGTGA	0.592																																					p.G141G		Atlas-SNP	.											APOBEC3F,NS,carcinoma,0,1	APOBEC3F	37	1	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.G423A						scavenged	.						47	49	48					22																	39441197		2203	4300	6503	SO:0001819	synonymous_variant	200316	exon3			GGCAGGGGCCCGC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.423G>A	22.37:g.39441197G>A		Somatic	93	8	0.0860215		WXS	Illumina HiSeq	Phase_I	71	2	0.028169	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																			G|0.998;A|0.002	0.002	strong		0.592	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39441197	G	A	39441197	2	1	26	1	0	0	0	0	0	0	0	1	793	1219	43	2		2	APOBEC3F	22	39441197	Silent	SNP	G	TCGA-GR-A4D6-01A-11D-A31X-10	13198992	39441197	11863369	95	21686										
EP300	2033	hgsc.bcm.edu	37	chr22	41572795	41572795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	aggattatgacttgtgtatcAcctgctataacactaaaaac	6	8	1	1			TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chr22:41572795A>G	ENST00000263253.7	+	31	6299	c.5080A>G	c.(5080-5082)Acc>Gcc	p.T1694A	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1694	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTGTGTATCACCTGCTATAA	0.423			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.T1694A		Atlas-SNP	.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300	367	.	0			c.A5080G						PASS	.						131	125	127					22																	41572795		2203	4300	6503	SO:0001583	missense	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	TGTATCACCTGCT	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5080A>G	22.37:g.41572795A>G	ENSP00000263253:p.Thr1694Ala	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	93	25	0.268817	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319613	0.41096	.	.	ENSG00000100393	ENST00000263253	D	0.91124	-2.79	5.45	5.45	0.79879	Zinc finger, ZZ-type (4);	0.000000	0.49916	D	0.000129	T	0.80727	0.4678	N	0.04655	-0.195	0.43032	D	0.994605	P	0.36616	0.561	B	0.40285	0.325	T	0.80016	-0.1559	10	0.08381	T	0.77	-9.5504	15.8114	0.78568	1.0:0.0:0.0:0.0	.	1694	Q09472	EP300_HUMAN	A	1694	ENSP00000263253:T1694A	ENSP00000263253:T1694A	T	+	1	0	EP300	39902741	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.576000	0.82467	2.191000	0.70037	0.528000	0.53228	ACC	.	.	none		0.423	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41572795	A	G	41572795	3	3	26	1	0	0	0	0	1	0	0	0	5148	159	6	2	5202	2	EP300	22	41572795	Missense_Mutation	SNP	A	TCGA-GR-A4D6-01A-11D-A31X-10	2131598	41572795	9731771	96	21687										
AR	367	hgsc.bcm.edu	37	chrX	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.770499757399321	1.23830318153462	0.684325442427028	0.485714285714286	0.737566137566138	0	cggcgccagtttgctgctgcTgcagcagcagcagcagcagc	14	14	0	0	rs78686797|rs3032358|rs4045402		TCGA-GR-A4D6-01A-11D-A31X-10	TCGA-GR-A4D6-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5a58bec0-67a8-4529-80d8-1042dfd8164a	5efebdb0-cfc1-42ae-be1d-e124289877a5	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome																												p.L57Q		Atlas-SNP	.											.	AR	249	.	3	Substitution - Missense(3)	lung(1)|endometrium(1)|central_nervous_system(1)	c.T170A						PASS	.						9	12	11					X																	66765158		2134	4208	6342	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCTGCTGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.170T>A	X.37:g.66765158T>A	ENSP00000363822:p.Leu57Gln	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	100	8	0.08	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.439011	0.01098	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.83992	-1.79;-1.79;-1.79	.	.	.	.	0.157526	0.30101	N	0.010412	T	0.56441	0.1985	N	0.03608	-0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.48927	-0.8991	6	0.20519	T	0.43	.	.	.	.	.	57;57;55	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	57	ENSP00000363822:L57Q;ENSP00000421155:L57Q;ENSP00000379359:L57Q	ENSP00000363822:L57Q	L	+	2	0	AR	66681883	0.999000	0.42202	0.884000	0.34674	0.488000	0.33401	0.326000	0.19646	0.000000	0.14550	0.000000	0.15137	CTG	.	.	weak		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66765158	T	A	66765158	3	1	26	1	0	0	0	0	1	0	0	0	836	1580	55	5	172	5	AR	23	66765158	Missense_Mutation	SNP	T	TCGA-GR-A4D6-01A-11D-A31X-10		66765158	88505402	97	21688										
PRDM16	63976	hgsc.bcm.edu	37	chr1	3301721	3301721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttcctcccagcagatctcCgaagacctgggcagtgagaa	10	13	1	3	rs2282198	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:3301721C>T	ENST00000270722.5	+	4	493	c.444C>T	c.(442-444)tcC>tcT	p.S148S	PRDM16_ENST00000514189.1_Silent_p.S149S|PRDM16_ENST00000441472.2_Silent_p.S148S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.S148S|PRDM16_ENST00000378398.3_Silent_p.S148S|PRDM16_ENST00000378391.2_Silent_p.S148S|PRDM16_ENST00000511072.1_Silent_p.S149S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	148	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCAGATCTCCGAAGACCTGG	0.607			T	EVI1	"MDS, AML"								C|||	1705	0.340455	0.0386	0.3285	5008	,	,		18269	0.622		0.2684	False		,,,				2504	0.5409				p.S148S		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.C444T						PASS	.	C	,	351,3947		22,307,1820	75	85	82		444,444	-9.1	0.5	1	dbSNP_100	82	2281,6267		290,1701,2283	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	312,2008,4103	TT,TC,CC		26.6846,8.1666,20.4889	,	148/1277,148/1258	3301721	2632,10214	2149	4274	6423	SO:0001819	synonymous_variant	63976	exon4			GATCTCCGAAGAC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.444C>T	1.37:g.3301721C>T		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			C|0.713;T|0.287	0.287	strong		0.607	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3301721	C	T	3301721	2	4	27	1	0	0	0	0	0	0	0	1	12457	639	23	1		1	PRDM16	1	3301721	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		3301721	245948900	1	21689										
LRRC47	57470	hgsc.bcm.edu	37	chr1	3703710	3703710	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcccgccaccacggcctccGacgcgcaggtactccaggat	10	18	0	0	rs2253143	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:3703710G>A	ENST00000378251.1	-	2	807	c.780C>T	c.(778-780)gtC>gtT	p.V260V	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	260							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCTCCGACGCGCAGGT	0.632													G|||	467	0.0932508	0.0068	0.111	5008	,	,		17403	0.2837		0.0318	False		,,,				2504	0.0644				p.V260V		Atlas-SNP	.											.	LRRC47	42	.	0			c.C780T						PASS	.	G		51,4355	51.6+/-87.1	0,51,2152	73	60	65		780	-8.5	0	1	dbSNP_100	65	210,8390	89.2+/-151.4	6,198,4096	no	coding-synonymous	LRRC47	NM_020710.2		6,249,6248	AA,AG,GG		2.4419,1.1575,2.0068		260/584	3703710	261,12745	2203	4300	6503	SO:0001819	synonymous_variant	57470	exon2			GCCTCCGACGCGC	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.780C>T	1.37:g.3703710G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	66	5	0.0757576	NM_020710	Q9ULN5	Silent	SNP	ENST00000378251.1	37	CCDS51.1																																																																																			G|0.949;A|0.051	0.051	strong		0.632	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		A	3703710	G	A	3703710	2	1	27	1	0	0	0	0	0	0	0	1	9004	1045	37	1		1	LRRC47	1	3703710	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	401989	3703710	245546911	2	21690										
PER3	8863	hgsc.bcm.edu	37	chr1	7890024	7890024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtccacaggatcgcctcccaTgaagaatccatcccatccta	6	16	0	2	rs201662971|rs57875989		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:7890024T>G	ENST00000361923.2	+	18	3165	c.2990T>G	c.(2989-2991)aTg>aGg	p.M997R	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.M1006R	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	997	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.M997R(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCTCCCATGAAGAATCCA	0.582																																					p.M997R		Atlas-SNP	.											PER3,NS,carcinoma,0,3	PER3	95	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.T2990G						scavenged	.						85	70	75					1																	7890024		2001	3894	5895	SO:0001583	missense	8863	exon18			CTCCCATGAAGAA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2990T>G	1.37:g.7890024T>G	ENSP00000355031:p.Met997Arg	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	63	4	0.0634921	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.321421	0.01320	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14640	2.49;2.49	.	.	.	Period circadian-like, C-terminal (1);	31.945600	0.01768	N	0.031022	T	0.04861	0.0131	N	0.04508	-0.205	0.09310	N	1	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	0.25152	-1.0140	8	0.11485	T	0.65	.	.	.	.	.	997;1006;1006;997	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	R	1006;997	ENSP00000366755:M1006R;ENSP00000355031:M997R	ENSP00000355031:M997R	M	+	2	0	PER3	7812611	0.004000	0.15560	0.012000	0.15200	0.013000	0.08279	-1.043000	0.03535	-1.402000	0.02056	-1.459000	0.01027	ATG	.	.	weak		0.582	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890024	T	G	7890024	3	3	27	1	0	0	0	0	1	0	0	0	11731	1464	51	5	3060	5	PER3	1	7890024	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	4186314	7890024	241360597	3	21691										
MFN2	9927	hgsc.bcm.edu	37	chr1	12065841	12065841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcccacgccagtgcttctcCctcaactatgacctaaactg	6	16	2	1	rs1042837	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:12065841C>T	ENST00000235329.5	+	15	1891	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	MFN2_ENST00000444836.1_Silent_p.S523S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	523					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGTGCTTCTCCCTCAACTATG	0.502													C|||	346	0.0690895	0.0159	0.0432	5008	,	,		24965	0.1389		0.0586	False		,,,				2504	0.0982				p.S523S		Atlas-SNP	.											MFN2,scalp,carcinoma,+1,1	MFN2	83	1	0			c.C1569T						scavenged	.	C	,	91,4315	74.1+/-112.3	3,85,2115	255	239	244		1569,1569	3	1	1	dbSNP_86	244	525,8075	147.4+/-202.8	15,495,3790	no	coding-synonymous,coding-synonymous	MFN2	NM_001127660.1,NM_014874.3	,	18,580,5905	TT,TC,CC		6.1047,2.0654,4.7363	,	523/758,523/758	12065841	616,12390	2203	4300	6503	SO:0001819	synonymous_variant	9927	exon15			CTTCTCCCTCAAC	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1569C>T	1.37:g.12065841C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	108	4	0.037037	NM_014874	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	CCDS30587.1																																																																																			C|0.946;T|0.054	0.054	strong		0.502	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		T	12065841	C	T	12065841	2	4	27	1	0	0	0	0	0	0	0	1	9524	610	22	2		2	MFN2	1	12065841	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4175817	12065841	237184780	4	21692										
PRAMEF11	440560	hgsc.bcm.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	10	9	1	2	rs59802947	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031				p.R57R		Atlas-SNP	.											PRAMEF11,NS,carcinoma,0,1	PRAMEF11	72	1	1	Substitution - coding silent(1)	endometrium(1)	c.A171G						scavenged	.																																			SO:0001819	synonymous_variant	440560	exon3			TTTCCATCTCCTG	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	16	4	0.25	NM_001146344		Silent	SNP	ENST00000535591.1	37	CCDS53268.1																																																																																			T|0.986;C|0.014	0.014	strong		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		C	12887686	T	C	12887686	2	2	27	1	0	0	0	0	0	0	0	1	12427	1432	50	2		2	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	821845	12887686	236362935	5	21693										
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12939782	12939782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggagaatttggagaggcacAagactgtaattggtcagtct	13	5	2	3	rs200129543		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:12939782A>G	ENST00000235349.5	-	4	1090	c.1020T>C	c.(1018-1020)ctT>ctC	p.L340L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	340					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAGGCACAAGACTGTAAT	0.473																																					p.L340L		Atlas-SNP	.											PRAMEF4,NS,carcinoma,0,1	PRAMEF4	62	1	0			c.T1020C						scavenged	.																																			SO:0001819	synonymous_variant	400735	exon4			AGGCACAAGACTG		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1020T>C	1.37:g.12939782A>G		Somatic	20	3	0.15		WXS	Illumina HiSeq	Phase_I	25	7	0.28	NM_001009611	Q5LJB5	Silent	SNP	ENST00000235349.5	37	CCDS30592.1																																																																																			.	.	weak		0.473	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12939782	A	G	12939782	2	3	27	1	0	0	0	0	0	0	0	1	12437	117	5	2		2	PRAMEF4	1	12939782	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	52096	12939782	236310839	6	21694										
PRAMEF10	343071	hgsc.bcm.edu	37	chr1	12954852	12954852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgaacaccttcaagggctggTgctctcccatccttggacag	10	13	2	1	rs200815222	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:12954852T>C	ENST00000235347.4	-	3	510	c.431A>G	c.(430-432)cAc>cGc	p.H144R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	144			H -> R (in dbSNP:rs2797709).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H144R(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGCTGGTGCTCTCCCAT	0.527													N|||	85	0.0169728	0.0197	0.0331	5008	,	,		14277	0.0089		0.0089	False		,,,				2504	0.0184				p.H144R		Atlas-SNP	.											PRAMEF10,NS,NS,0,1	PRAMEF10	35	1	1	Substitution - Missense(1)	NS(1)	c.A431G						scavenged	.						126	129	128					1																	12954852		1982	3990	5972	SO:0001583	missense	343071	exon3			GGCTGGTGCTCTC	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.431A>G	1.37:g.12954852T>C	ENSP00000235347:p.His144Arg	Somatic	29	4	0.137931		WXS	Illumina HiSeq	Phase_I	27	6	0.222222	NM_001039361	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.869932	0.00542	.	.	ENSG00000187545	ENST00000235347	T	0.14766	2.48	1.65	-3.3	0.05003	.	2.458840	0.02019	N	0.047646	T	0.04318	0.0119	N	0.02266	-0.62	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.31530	-0.9940	9	0.02654	T	1	.	4.9328	0.13926	0.0:0.4645:0.2179:0.3176	.	144	O60809	PRA10_HUMAN	R	144	ENSP00000235347:H144R	ENSP00000235347:H144R	H	-	2	0	PRAMEF10	12877439	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.840000	0.01684	-1.846000	0.01175	-2.717000	0.00132	CAC	T|0.500;C|0.500	0.500	weak		0.527	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		C	12954852	T	C	12954852	3	2	27	1	0	0	0	0	1	0	0	0	12426	1696	59	2	1001	2	PRAMEF10	1	12954852	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	15070	12954852	236295769	7	21695										
CLCNKA	1187	hgsc.bcm.edu	37	chr1	16351310	16351310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agccacctgctccggtatctTtcctggactgtgtaccctgt	9	14	1	0	rs118025694	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:16351310T>C	ENST00000331433.4	+	4	301	c.282T>C	c.(280-282)ctT>ctC	p.L94L	CLCNKA_ENST00000375692.1_Silent_p.L94L|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000420078.1_Silent_p.L94L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	94					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCGGTATCTTTCCTGGACTG	0.627													T|||	4	0.000798722	0.0	0.0	5008	,	,		16390	0.004		0.0	False		,,,				2504	0.0				p.L94L		Atlas-SNP	.											CLCNKA,NS,carcinoma,+2,1	CLCNKA	56	1	0			c.T282C						PASS	.						139	105	116					1																	16351310		2203	4300	6503	SO:0001819	synonymous_variant	1187	exon4			GTATCTTTCCTGG		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.282T>C	1.37:g.16351310T>C		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_004070	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1																																																																																			T|0.997;C|0.003	0.003	strong		0.627	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			C	16351310	T	C	16351310	2	2	27	1	0	0	0	0	0	0	0	1	3469	1828	64	2		2	CLCNKA	1	16351310	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3396458	16351310	232899311	8	21696										
FAM131C	348487	hgsc.bcm.edu	37	chr1	16384986	16384986	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagccgctgtccatggagggGagggagcccggggggtgggt	23	8	0	0	rs28496958	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:16384986G>T	ENST00000375662.4	-	7	972	c.789C>A	c.(787-789)ctC>ctA	p.L263L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	263	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGGAGGGGAGGGAGCCCG	0.711																																					p.L263L		Atlas-SNP	.											FAM131C,colon,carcinoma,0,1	FAM131C	21	1	0			c.C789A						PASS	.						2	2	2					1																	16384986		1272	2832	4104	SO:0001819	synonymous_variant	348487	exon7			GGAGGGGAGGGAG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.789C>A	1.37:g.16384986G>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	124	5	0.0403226	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																			G|0.704;T|0.296	0.296	strong		0.711	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16384986	G	T	16384986	2	4	27	1	0	0	0	0	0	0	0	1	5441	1161	41	4		4	FAM131C	1	16384986	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	33676	16384986	232865635	9	21697										
FAM131C	348487	hgsc.bcm.edu	37	chr1	16384998	16384998	+	Silent	SNP	G	G	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atggaggggagggagcccggGgggtgggtcccaccctcggg					rs1807285	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:16384998G>C	ENST00000375662.4	-	7	960	c.777C>G	c.(775-777)ccC>ccG	p.P259P	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	259	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGCCCGGGGGGTGGGTCC	0.716													C|||	1887	0.376797	0.4032	0.2795	5008	,	,		19381	0.4315		0.336	False		,,,				2504	0.3957				p.P259P		Atlas-SNP	.											FAM131C,NS,carcinoma,-1,2	FAM131C	21	2	0			c.C777G						scavenged	.						2	2	2					1																	16384998		1394	3106	4500	SO:0001819	synonymous_variant	348487	exon7			GCCCGGGGGGTGG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.777C>G	1.37:g.16384998G>C		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	129	5	0.0387597	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																			G|0.706;C|0.294	0.294	strong		0.716	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		C	16384998	G	C	16384998	2	2	27	1	0	0	0	0	0	0	0	1	5441	1219	43	4		4	FAM131C	1	16384998	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	12	16384998	232865623	10	21698	437	2								
FAM131C	348487	hgsc.bcm.edu	37	chr1	16384999	16384999	+	Missense_Mutation	SNP	G	G	A													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggaggggagggagcccgggGggtgggtcccaccctcgggt					rs1807284	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:16384999G>A	ENST00000375662.4	-	7	959	c.776C>T	c.(775-777)cCc>cTc	p.P259L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	259	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCCCGGGGGGTGGGTCCC	0.721													A|||	1887	0.376797	0.4032	0.2795	5008	,	,		19329	0.4315		0.336	False		,,,				2504	0.3957				p.P259L		Atlas-SNP	.											FAM131C,NS,carcinoma,0,2	FAM131C	21	2	0			c.C776T						scavenged	.						2	3	3					1																	16384999		1408	3137	4545	SO:0001583	missense	348487	exon7			CCCGGGGGGTGGG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.776C>T	1.37:g.16384999G>A	ENSP00000364814:p.Pro259Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	132	5	0.0378788	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	618	0.28296703296703296	170	0.34552845528455284	94	0.2596685082872928	168	0.2937062937062937	186	0.24538258575197888	A	0.006	-2.029401	0.00410	.	.	ENSG00000185519	ENST00000375662	T	0.11821	2.74	4.65	-2.16	0.07080	.	1.628260	0.03484	N	0.215578	T	0.00012	0.0000	N	0.00972	-1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43605	-0.9381	10	0.02654	T	1	.	10.8536	0.46784	0.4433:0.0:0.5567:0.0	rs1807284;rs3884147	259	Q96AQ9	F131C_HUMAN	L	259	ENSP00000364814:P259L	ENSP00000364814:P259L	P	-	2	0	FAM131C	16257586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.041000	0.12084	-1.034000	0.03295	-1.271000	0.01417	CCC	G|0.717;A|0.283	0.283	strong		0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16384999	G	A	16384999	3	1	27	1	0	0	0	0	1	0	0	0	5441	1232	43	2	70	2	FAM131C	1	16384999	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1	16384999	232865622	11	21699	437	2								
UBR4	23352	hgsc.bcm.edu	37	chr1	19447843	19447843	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgagcaccttgctgccgcaCagagcacaggagagcagttg	14	12	0	2	rs1044010	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:19447843C>G	ENST00000375254.3	-	68	10008	c.9981G>C	c.(9979-9981)ctG>ctC	p.L3327L	UBR4_ENST00000375267.2_Silent_p.L3327L|UBR4_ENST00000375226.2_Silent_p.L3303L|UBR4_ENST00000375217.2_Silent_p.L3320L|UBR4_ENST00000375218.3_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTGCCGCACAGAGCACAGG	0.602													C|||	3007	0.600439	0.5424	0.6844	5008	,	,		8659	0.7589		0.5775	False		,,,				2504	0.4796				p.L3327L		Atlas-SNP	.											UBR4,colon,carcinoma,0,1	UBR4	415	1	0			c.G9981C						scavenged	.	C		2419,1987	616.9+/-392.9	670,1079,454	66	64	65		9981	1.8	1	1	dbSNP_86	65	4866,3734	618.0+/-396.7	1392,2082,826	no	coding-synonymous	UBR4	NM_020765.2		2062,3161,1280	GG,GC,CC		43.4186,45.0976,43.9874		3327/5184	19447843	7285,5721	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon68			GCCGCACAGAGCA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9981G>C	1.37:g.19447843C>G		Somatic	307	2	0.00651466		WXS	Illumina HiSeq	Phase_I	317	12	0.0378549	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			C|0.417;G|0.583	0.583	strong		0.602	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19447843	C	G	19447843	2	3	27	1	0	0	0	0	0	0	0	1	16901	465	17	4		4	UBR4	1	19447843	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3062844	19447843	229802778	12	21700										
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19565344	19565344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acccatcttcagaactgctaCttttctgctatgagaaagag	7	10	3	3	rs709683	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:19565344C>G	ENST00000477853.1	-	10	1076	c.1034G>C	c.(1033-1035)aGt>aCt	p.S345T	EMC1_ENST00000375208.3_Missense_Mutation_p.S323T|EMC1_ENST00000375199.3_Missense_Mutation_p.S344T|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	345			S -> T (in dbSNP:rs709683). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16303743}.			ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGAACTGCTACTTTTCTGCTA	0.458													G|||	2866	0.572284	0.7315	0.5101	5008	,	,		18872	0.7401		0.3469	False		,,,				2504	0.4601				p.S345T		Atlas-SNP	.											.	.	.	.	0			c.G1034C						PASS	.	G	THR/SER	3012,1394	458.0+/-351.8	1047,918,238	116	124	121		1034	5.2	0.9	1	dbSNP_86	121	3095,5505	659.4+/-401.7	566,1963,1771	yes	missense	KIAA0090	NM_015047.1	58	1613,2881,2009	GG,GC,CC		35.9884,31.6387,46.9553	benign	345/994	19565344	6107,6899	2203	4300	6503	SO:0001583	missense	23065	exon10			CTGCTACTTTTCT		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1034G>C	1.37:g.19565344C>G	ENSP00000420608:p.Ser345Thr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	112	5	0.0446429	NM_001271428	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	1224|1224	0.5604395604395604|0.5604395604395604	361|361	0.733739837398374|0.733739837398374	167|167	0.4613259668508287|0.4613259668508287	431|431	0.7534965034965035|0.7534965034965035	265|265	0.3496042216358839|0.3496042216358839	G|G	7.688|7.688	0.690412|0.690412	0.15039|0.15039	0.683613|0.683613	0.359884|0.359884	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.23147	.|1.98;1.92;1.98	6.17|6.17	5.22|5.22	0.72569|0.72569	.|.	.|0.708347	.|0.15080	.|N	.|0.281698	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.58432|0.58432	P|P	4.000000000004E-6|4.000000000004E-6	.|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|T	0.16217|0.16217	-1.0410|-1.0410	5|9	0.39692|0.12430	T|T	0.17|0.62	-7.2019|-7.2019	16.2834|16.2834	0.82708|0.82708	0.0:0.2663:0.7337:0.0|0.0:0.2663:0.7337:0.0	rs709683;rs57408009;rs709683|rs709683;rs57408009;rs709683	.|323;344;345;345	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	N|T	78|345;344;323	.|ENSP00000420608:S345T;ENSP00000364345:S344T;ENSP00000364354:S323T	ENSP00000364343:K78N|ENSP00000364345:S344T	K|S	-|-	3|2	2|0	KIAA0090|KIAA0090	19437931|19437931	0.934000|0.934000	0.31675|0.31675	0.868000|0.868000	0.34077|0.34077	0.804000|0.804000	0.45430|0.45430	2.667000|2.667000	0.46808|0.46808	1.643000|1.643000	0.50594|0.50594	-0.120000|-0.120000	0.15030|0.15030	AAG|AGT	C|0.506;G|0.494	0.494	strong		0.458	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		G	19565344	C	G	19565344	3	3	27	1	0	0	0	0	1	0	0	0	8153	565	20	4	2003	4	KIAA0090	1	19565344	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	117501	19565344	229685277	13	21701										
RCAN3	11123	hgsc.bcm.edu	37	chr1	24861704	24861704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaacagaaaattgcccagacGaggcgccccgaccctccgac	9	16	0	2	rs196432	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:24861704G>A	ENST00000374395.4	+	5	976	c.663G>A	c.(661-663)acG>acA	p.T221T	RCAN3_ENST00000436717.2_Silent_p.T211T|RCAN3_ENST00000538532.1_Silent_p.T163T|RCAN3_ENST00000374393.2_Missense_Mutation_p.R106Q|RCAN3_ENST00000412742.2_Missense_Mutation_p.R164Q	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	221					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTGCCCAGACGAGGCGCCCCG	0.582													G|||	2550	0.509185	0.4667	0.4006	5008	,	,		15419	0.7272		0.4573	False		,,,				2504	0.4724				p.R164Q		Atlas-SNP	.											RCAN3,colon,carcinoma,0,1	RCAN3	22	1	0			c.G491A						scavenged	.	G		2045,2361	566.1+/-381.8	472,1101,630	53	55	54		663	-11.6	0	1	dbSNP_79	54	3966,4634	548.7+/-385.4	893,2180,1227	no	coding-synonymous	RCAN3	NM_013441.2		1365,3281,1857	AA,AG,GG		46.1163,46.414,46.2171		221/242	24861704	6011,6995	2203	4300	6503	SO:0001819	synonymous_variant	11123	exon3			CCAGACGAGGCGC		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.663G>A	1.37:g.24861704G>A		Somatic	130	2	0.0153846		WXS	Illumina HiSeq	Phase_I	154	5	0.0324675	NM_001251982	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	CCDS254.1	1141	0.5224358974358975	218	0.44308943089430897	141	0.38950276243093923	416	0.7272727272727273	366	0.48284960422163586	G	0.029	-1.348475	0.01266	0.46414	0.461163	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B	0.15719	0.014;0.0	B;B	0.10450	0.005;0.0	T	0.19844	-1.0293	6	0.06757	T	0.87	-5.9522	9.401	0.38433	0.4826:0.3354:0.1284:0.0537	rs196432;rs548092;rs3765891;rs17441326;rs17846158;rs17859166;rs60263682;rs196432	106;164	E7EWD8;E7ENV1	.;.	Q	164;106	.	ENSP00000363514:R106Q	R	+	2	0	RCAN3	24734291	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.588000	0.00422	-4.477000	0.00046	-1.753000	0.00675	CGA	G|0.515;A|0.485	0.485	strong		0.582	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			A	24861704	G	A	24861704	2	1	27	1	0	0	0	0	0	0	0	1	13170	1045	37	1		1	RCAN3	1	24861704	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5296360	24861704	224388917	14	21702										
ARID1A	8289	hgsc.bcm.edu	37	chr1	27102083	27102083	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcaggaaccccggaggcatGgcgggtaatgatgtccctca	13	11	2	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:27102083G>A	ENST00000324856.7	+	19	5380	c.5009G>A	c.(5008-5010)tGg>tAg	p.W1670*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1453*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1287*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1670					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.W1670*(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)		CCGGAGGCATGGCGGGTAATG	0.542			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.W1670X		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	ARID1A,bladder,carcinoma,0,1	ARID1A	842	1	1	Substitution - Nonsense(1)	urinary_tract(1)	c.G5009A						PASS	.						80	67	71					1																	27102083		2203	4300	6503	SO:0001587	stop_gained	8289	exon19			AGGCATGGCGGGT	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.5009G>A	1.37:g.27102083G>A	ENSP00000320485:p.Trp1670*	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	43	17	0.395349	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.783098|10.783098	0.99467|0.99467	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46560|.	0.1399|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34825|.	-0.9813|.	4|.	.|0.02654	.|T	.|1	-4.3496|-4.3496	18.5907|18.5907	0.91210|0.91210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	566|1670;1453;1287	.|.	.|ENSP00000320485:W1670X	M|W	+|+	3|2	0|0	ARID1A|ARID1A	26974670|26974670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.657000|9.657000	0.98554|0.98554	2.634000|2.634000	0.89283|0.89283	0.655000|0.655000	0.94253|0.94253	ATG|TGG	.	.	none		0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27102083	G	A	27102083	4	1	27	1	0	0	0	0	0	1	0	0	913	1357	47	2	5083	2	ARID1A	1	27102083	Nonsense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2240379	27102083	222148538	15	21703										
FAM76A	199870	hgsc.bcm.edu	37	chr1	28060574	28060574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagtattgcaacataattgcAgcatttattgggaataaatg	8	5	0	0	rs6670793	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:28060574A>G	ENST00000373954.6	+	4	336	c.234A>G	c.(232-234)gcA>gcG	p.A78A	FAM76A_ENST00000530324.1_Silent_p.A78A|FAM76A_ENST00000010299.6_Silent_p.A112A|FAM76A_ENST00000234549.7_Silent_p.A112A|FAM76A_ENST00000373949.1_Silent_p.A78A|FAM76A_ENST00000419687.2_Intron	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	78										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		ACATAATTGCAGCATTTATTG	0.373													G|||	1267	0.252995	0.6241	0.0865	5008	,	,		17697	0.2669		0.0149	False		,,,				2504	0.1002				p.A112A		Atlas-SNP	.											.	FAM76A	11	.	0			c.A336G						PASS	.	G	,,,,	2259,2147	578.5+/-384.7	579,1101,523	81	86	84		336,336,234,,234	-9.3	0.5	1	dbSNP_116	84	136,8464	813.4+/-407.0	1,134,4165	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	FAM76A	NM_001143912.1,NM_001143913.1,NM_001143914.1,NM_001143915.1,NM_152660.2	,,,,	580,1235,4688	GG,GA,AA		1.5814,48.729,18.4146	,,,,	112/342,112/313,78/279,,78/308	28060574	2395,10611	2203	4300	6503	SO:0001819	synonymous_variant	199870	exon5			AATTGCAGCATTT	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.234A>G	1.37:g.28060574A>G		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	222	9	0.0405405	NM_001143912	B4DWT3|O95565|O95566|Q8N7J5	Silent	SNP	ENST00000373954.6	37	CCDS309.1																																																																																			A|0.789;G|0.211	0.211	strong		0.373	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		G	28060574	A	G	28060574	2	3	27	1	0	0	0	0	0	0	0	1	5624	175	7	3		3	FAM76A	1	28060574	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	958491	28060574	221190047	16	21704										
PTAFR	5724	hgsc.bcm.edu	37	chr1	28476862	28476862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgcccggcgcttgacttcaGcgttgcgctgctgctgcacc	13	16	1	1	rs5938	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:28476862G>T	ENST00000373857.3	-	2	1305	c.671C>A	c.(670-672)gCt>gAt	p.A224D	PTAFR_ENST00000539896.1_Missense_Mutation_p.A224D|PTAFR_ENST00000305392.3_Missense_Mutation_p.A224D	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	224			A -> D (in dbSNP:rs5938). {ECO:0000269|PubMed:10391209}.		chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.A224D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGACTTCAGCGTTGCGCTG	0.592													G|||	119	0.023762	0.0	0.0	5008	,	,		22009	0.1151		0.0	False		,,,				2504	0.0031				p.A224D		Atlas-SNP	.											PTAFR,NS,carcinoma,0,1	PTAFR	30	1	1	Substitution - Missense(1)	stomach(1)	c.C671A	GRCh37	CM016130	PTAFR	M	rs5938	scavenged	.	G	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	2,4404	4.2+/-10.8	0,2,2201	69	60	63		671,671,671,671	3.5	0	1	dbSNP_52	63	0,8600		0,0,4300	yes	missense,missense,missense,missense	PTAFR	NM_000952.4,NM_001164721.1,NM_001164722.2,NM_001164723.2	126,126,126,126	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	224/343,224/343,224/343,224/343	28476862	2,13004	2203	4300	6503	SO:0001583	missense	5724	exon3			ACTTCAGCGTTGC	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.671C>A	1.37:g.28476862G>T	ENSP00000362965:p.Ala224Asp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	110	4	0.0363636	NM_001164723	A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	CCDS318.1	62	0.028388278388278388	0	0.0	0	0.0	62	0.10839160839160839	0	0.0	G	14.60	2.582638	0.46006	4.54E-4	0.0	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.48836	0.8;0.8;0.8	5.38	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.382363	0.28409	N	0.015452	T	0.01287	0.0042	L	0.38838	1.175	0.09310	N	1	P	0.34615	0.459	P	0.48738	0.588	T	0.02378	-1.1168	10	0.42905	T	0.14	.	10.8858	0.46965	0.1525:0.0:0.8475:0.0	rs5938;rs3738164;rs5938	224	P25105	PTAFR_HUMAN	D	224	ENSP00000362965:A224D;ENSP00000442658:A224D;ENSP00000301974:A224D	ENSP00000301974:A224D	A	-	2	0	PTAFR	28349449	0.025000	0.19082	0.004000	0.12327	0.831000	0.47069	1.866000	0.39489	0.645000	0.30675	0.563000	0.77884	GCT	G|0.968;T|0.030	0.030	strong		0.592	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		T	28476862	G	T	28476862	3	4	27	1	0	0	0	0	1	0	0	0	12723	971	34	4	361	4	PTAFR	1	28476862	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	416288	28476862	220773759	17	21705										
PHC2	1912	hgsc.bcm.edu	37	chr1	33820033	33820033	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacggctggatgttagggctCgtgggtacaggcaggccacc	17	10	0	0	rs16835408	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:33820033C>T	ENST00000257118.5	-	8	1577	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	PHC2_ENST00000373422.3_Silent_p.T114T|PHC2_ENST00000431992.1_Silent_p.T479T|PHC2_ENST00000373416.1_5'UTR|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000419414.2_Silent_p.T509T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	508					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTTAGGGCTCGTGGGTACAG	0.612													C|||	587	0.117212	0.0083	0.072	5008	,	,		19208	0.2927		0.1183	False		,,,				2504	0.1145				p.T508T		Atlas-SNP	.											.	PHC2	78	.	0			c.G1524A						PASS	.	C		122,4284	92.0+/-130.7	2,118,2083	102	91	95		1524	4.6	1	1	dbSNP_123	95	1025,7575	218.7+/-257.0	61,903,3336	no	coding-synonymous	PHC2	NM_198040.2		63,1021,5419	TT,TC,CC		11.9186,2.769,8.819		508/859	33820033	1147,11859	2203	4300	6503	SO:0001819	synonymous_variant	1912	exon8			AGGGCTCGTGGGT	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1524G>A	1.37:g.33820033C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	76	6	0.0789474	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																			C|0.900;T|0.100	0.100	strong		0.612	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		T	33820033	C	T	33820033	2	4	27	1	0	0	0	0	0	0	0	1	11817	871	31	1		1	PHC2	1	33820033	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5343171	33820033	215430588	18	21706										
SFPQ	6421	hgsc.bcm.edu	37	chr1	35658418	35658432	+	In_Frame_Del	DEL	GGTGGCTGCTGCGGT	GGTGGCTGCTGCGGT	-													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcggtggcggctgctgcggcGgtggctgctgcggtggtggc							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	GGTGGCTGCTGCGGT	GGTGGCTGCTGCGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:35658418_35658432delGGTGGCTGCTGCGGT	ENST00000357214.5	-	1	317_331	c.219_233delACCGCAGCAGCCACC	c.(217-234)ccaccgcagcagccaccg>ccg	p.73_78PPQQPP>P		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	73	Gln/Glu/Pro-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ctgctgcggcggtggctgctgcggtggtggcTGTT	0.707			T	TFE3	papillary renal cell																																p.74_78del		Atlas-Indel	.		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	SFPQ	51	.	0			c.220_234del						PASS	.			136,3204		29,78,1563						1.2	0			4	216,6642		53,110,3266	no	coding	SFPQ	NM_005066.2		82,188,4829	A1A1,A1R,RR		3.1496,4.0719,3.4517				352,9846				SO:0001651	inframe_deletion	6421	exon1			.	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.219_233delACCGCAGCAGCCACC	1.37:g.35658418_35658432delGGTGGCTGCTGCGGT	ENSP00000349748:p.Pro78_Pro82del	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	29	13	0.448276	NM_005066	P30808|Q5SZ71	In_Frame_Del	DEL	ENST00000357214.5	37	CCDS388.1																																																																																			.	.	none		0.707	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		-	35658432	GGTGGCTGCTGCGGT	-	35658418	7	5	27	1	0	1	0	1	0	0	0	0	14160	1116	39	0	1930	0	SFPQ	1	35658418	In_Frame_Del	DEL	GGTGGCTGCTGCGGT	TCGA-GR-A4D9-01B-11D-A31X-10	1838385	35658418	213592203	19	21707										
CCDC30	728621	hgsc.bcm.edu	37	chr1	43047057	43047057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacctgcagcggaaattagaAcatgctcataaagtctgtct	9	9	3	1	rs12037518	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:43047057A>G	ENST00000340612.4	+	7	1092	c.1092A>G	c.(1090-1092)gaA>gaG	p.E364E	CCDC30_ENST00000390640.4_Silent_p.E153E|CCDC30_ENST00000428554.2_Silent_p.E364E|CCDC30_ENST00000507855.1_Silent_p.E153E|CCDC30_ENST00000342022.4_Silent_p.E364E			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAAATTAGAACATGCTCATA	0.348													A|||	1397	0.278954	0.1702	0.1499	5008	,	,		18052	0.4395		0.1879	False		,,,				2504	0.4458				p.E364E		Atlas-SNP	.											.	CCDC30	78	.	0			c.A1092G						PASS	.	A		792,3614	317.7+/-295.3	72,648,1483	89	93	92		1092	2	0.8	1	dbSNP_120	92	1708,6892	311.8+/-310.5	177,1354,2769	no	coding-synonymous	CCDC30	NM_001080850.2		249,2002,4252	GG,GA,AA		19.8605,17.9755,19.2219		364/784	43047057	2500,10506	2203	4300	6503	SO:0001819	synonymous_variant	728621	exon8			ATTAGAACATGCT	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1092A>G	1.37:g.43047057A>G		Somatic	381	0	0		WXS	Illumina HiSeq	Phase_I	395	17	0.043038	NM_001080850	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																			A|0.811;G|0.189	0.189	strong		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		G	43047057	A	G	43047057	2	3	27	1	0	0	0	0	0	0	0	1	2805	40	2	2		2	CCDC30	1	43047057	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7388639	43047057	206203564	20	21708										
WDR65	149465	hgsc.bcm.edu	37	chr1	43652442	43652442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaggacgttctctgcctgtGcttcagcccctcagaggaaa	10	13	3	1	rs11210805	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:43652442G>C	ENST00000372492.4	+	6	1358	c.1034G>C	c.(1033-1035)tGc>tCc	p.C345S	WDR65_ENST00000528956.1_Missense_Mutation_p.C345S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		345			C -> S (in dbSNP:rs11210805).							NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGCCTGTGCTTCAGCCCC	0.507													G|||	643	0.128395	0.0098	0.1888	5008	,	,		16964	0.3175		0.0457	False		,,,				2504	0.136				p.C345S		Atlas-SNP	.											.	WDR65	76	.	0			c.G1034C						PASS	.	G	SER/CYS,SER/CYS,SER/CYS	78,4328	69.2+/-107.0	0,78,2125	121	106	111		1034,1034,1034	5.7	1	1	dbSNP_120	111	433,8167	133.5+/-191.0	10,413,3877	yes	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	112,112,112	10,491,6002	CC,CG,GG		5.0349,1.7703,3.929	possibly-damaging,possibly-damaging,possibly-damaging	345/699,345/699,345/699	43652442	511,12495	2203	4300	6503	SO:0001583	missense	149465	exon6			GCCTGTGCTTCAG																												ENST00000372492.4:c.1034G>C	1.37:g.43652442G>C	ENSP00000361570:p.Cys345Ser	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	52	5	0.0961538	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		270	0.12362637362637363	10	0.02032520325203252	54	0.14917127071823205	169	0.29545454545454547	37	0.048812664907651716	G	16.51	3.143401	0.57044	0.017703	0.050349	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06849	3.25;3.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.047660	0.85682	N	0.000000	T	0.00012	0.0000	M	0.71581	2.175	0.21105	P	0.999789461	B;B	0.33637	0.002;0.42	B;B	0.39876	0.008;0.312	T	0.53940	-0.8367	9	0.19590	T	0.45	.	16.0573	0.80814	0.0:0.134:0.866:0.0	rs11210805	345;345	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	345	ENSP00000361570:C345S;ENSP00000435310:C345S	ENSP00000361570:C345S	C	+	2	0	WDR65	43425029	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.082000	0.71318	2.649000	0.89929	0.655000	0.94253	TGC	G|0.929;C|0.071	0.071	strong		0.507	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			C	43652442	G	C	43652442	3	2	27	1	0	0	0	0	1	0	0	0	17313	1319	46	4	1052	4	WDR65	1	43652442	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	605385	43652442	205598179	21	21709										
ACOT11	26027	hgsc.bcm.edu	37	chr1	55064980	55064980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctcctcagccggctctgccGtgcccaccctacgctgaagg	10	19	2	1	rs2304303	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:55064980G>A	ENST00000371316.3	+	8	858	c.776G>A	c.(775-777)cGt>cAt	p.R259H	ACOT11_ENST00000343744.2_Missense_Mutation_p.R259H|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	259	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CGGCTCTGCCGTGCCCACCCT	0.547													G|||	404	0.0806709	0.0295	0.1412	5008	,	,		8222	0.1706		0.0348	False		,,,				2504	0.0613				p.R259H	Ovarian(148;1440 1861 22015 32453 51933)	Atlas-SNP	.											ACOT11_ENST00000371316,caecum,carcinoma,0,2	ACOT11	105	2	0			c.G776A						scavenged	.	G	HIS/ARG,HIS/ARG	153,4253	104.3+/-142.8	2,149,2052	80	78	79		776,776	-1.6	0.1	1	dbSNP_100	79	236,8364	95.2+/-157.0	5,226,4069	yes	missense,missense	ACOT11	NM_015547.3,NM_147161.3	29,29	7,375,6121	AA,AG,GG		2.7442,3.4725,2.9909	benign,benign	259/608,259/595	55064980	389,12617	2203	4300	6503	SO:0001583	missense	26027	exon8			TCTGCCGTGCCCA	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.776G>A	1.37:g.55064980G>A	ENSP00000360366:p.Arg259His	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	182	5	0.0274725	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	188	0.08608058608058608	13	0.026422764227642278	48	0.13259668508287292	99	0.17307692307692307	28	0.036939313984168866	G	12.41	1.928244	0.34002	0.034725	0.027442	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.31510	1.49;1.49	5.27	-1.58	0.08479	Thioesterase superfamily (1);	0.518159	0.21888	N	0.067627	T	0.00039	0.0001	L	0.48642	1.525	0.53688	P	2.199999999996649E-5	B;B	0.14805	0.011;0.002	B;B	0.15870	0.014;0.005	T	0.23476	-1.0187	9	0.20046	T	0.44	-9.6805	6.4701	0.22003	0.5971:0.1422:0.2607:0.0	rs2304303	259;259	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	H	259	ENSP00000340260:R259H;ENSP00000360366:R259H	ENSP00000340260:R259H	R	+	2	0	ACOT11	54837568	0.348000	0.24861	0.096000	0.21009	0.952000	0.60782	1.950000	0.40323	-0.026000	0.13895	0.561000	0.74099	CGT	G|0.956;A|0.044	0.044	strong		0.547	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		A	55064980	G	A	55064980	3	1	27	1	0	0	0	0	1	0	0	0	149	1145	40	1	806	1	ACOT11	1	55064980	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	11412538	55064980	194185641	22	21710										
DNASE2B	58511	hgsc.bcm.edu	37	chr1	84864256	84864256	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcatgaaataaatgaaacaGaaaatgatggcaagactgct	10	5	0	5	rs3738573	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:84864256G>C	ENST00000370665.3	+	1	42	c.9G>C	c.(7-9)caG>caC	p.Q3H		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	3			Q -> H (in dbSNP:rs3738573).		apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AAATGAAACAGAAAATGATGG	0.468													G|||	1473	0.294129	0.1755	0.3156	5008	,	,		20991	0.4038		0.334	False		,,,				2504	0.2853				p.Q3H	Pancreas(54;788 1175 11852 16034 30034)	Atlas-SNP	.											DNASE2B_ENST00000370665,NS,carcinoma,0,1	DNASE2B	40	1	0			c.G9C						scavenged	.	G	HIS/GLN	778,3356		79,620,1368	166	174	171		9	3	0.8	1	dbSNP_107	171	2894,5546		499,1896,1825	yes	missense	DNASE2B	NM_021233.2	24	578,2516,3193	CC,CG,GG		34.2891,18.8195,29.2031	benign	3/362	84864256	3672,8902	2067	4220	6287	SO:0001583	missense	58511	exon1			GAAACAGAAAATG	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.9G>C	1.37:g.84864256G>C	ENSP00000359699:p.Gln3His	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	76	3	0.0394737	NM_021233	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	CCDS44167.1	658	0.30128205128205127	94	0.1910569105691057	107	0.2955801104972376	211	0.3688811188811189	246	0.3245382585751979	G	0.349	-0.945820	0.02304	0.188195	0.342891	ENSG00000137976	ENST00000370665	T	0.11821	2.74	4.91	2.99	0.34606	.	0.945862	0.08788	N	0.893617	T	0.02083	0.0065	N	0.08118	0	0.09310	P	0.9999999400257	P	0.37864	0.61	B	0.35550	0.205	T	0.44421	-0.9329	9	0.26408	T	0.33	2.9062	7.0606	0.25123	0.2131:0.0:0.7869:0.0	rs3738573;rs17479406;rs3738573	3	Q8WZ79	DNS2B_HUMAN	H	3	ENSP00000359699:Q3H	ENSP00000359699:Q3H	Q	+	3	2	DNASE2B	84636844	0.616000	0.27035	0.798000	0.32154	0.152000	0.21847	0.646000	0.24797	0.742000	0.32697	0.655000	0.94253	CAG	G|0.694;C|0.306	0.306	strong		0.468	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		C	84864256	G	C	84864256	3	2	27	1	0	0	0	0	1	0	0	0	4665	933	33	4	11	4	DNASE2B	1	84864256	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	29799276	84864256	164386365	23	21711										
BCL10	8915	hgsc.bcm.edu	37	chr1	85736460	85736460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	taacaattttccagccctttTtctacttgatgttcgacaag	5	10	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:85736460T>G	ENST00000370580.1	-	2	924	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	63	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CCAGCCCTTTTTCTACTTGAT	0.373			T	IGH@	MALT																																p.K63Q	NSCLC(34;993 1034 12176 32621 50182)	Atlas-SNP	.		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	.	BCL10	39	.	0			c.A187C						PASS	.						110	114	113					1																	85736460		2203	4300	6503	SO:0001583	missense	8915	exon2			CCCTTTTTCTACT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.187A>C	1.37:g.85736460T>G	ENSP00000359612:p.Lys63Gln	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	154	71	0.461039	NM_003921	Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250050	0.80024	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.20463	2.07	5.69	5.69	0.88448	DEATH-like (2);Caspase Recruitment (2);	0.048742	0.85682	D	0.000000	T	0.29620	0.0739	L	0.53249	1.67	0.42293	D	0.992143	D	0.76494	0.999	D	0.68483	0.958	T	0.04509	-1.0946	10	0.66056	D	0.02	-31.1976	12.1424	0.54005	0.0:0.0:0.1427:0.8573	.	63	O95999	BCL10_HUMAN	Q	63	ENSP00000359612:K63Q	ENSP00000271015:K63Q	K	-	1	0	BCL10	85509048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.576000	0.60915	2.291000	0.77112	0.533000	0.62120	AAA	.	.	none		0.373	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		G	85736460	T	G	85736460	3	3	27	1	0	0	0	0	1	0	0	0	1362	1850	64	5	522	5	BCL10	1	85736460	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	872204	85736460	163514161	24	21712										
COL24A1	255631	hgsc.bcm.edu	37	chr1	86512536	86512536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttaaaacccttctttccaCggatcccaggaatgccctag	6	15	1	0	rs60891279	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:86512536C>T	ENST00000370571.2	-	12	2288	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		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)		cttctttccacggatcccagg	0.313													C|||	921	0.183906	0.1097	0.2651	5008	,	,		17486	0.2788		0.1322	False		,,,				2504	0.182				p.R641H		Atlas-SNP	.											COL24A1,NS,carcinoma,-1,1	COL24A1	202	1	0			c.G1922A						scavenged	.	C	HIS/ARG	404,3202		20,364,1419	114	114	114		1922	4.2	1	1	dbSNP_129	114	1200,6924		77,1046,2939	yes	missense	COL24A1	NM_152890.5	29	97,1410,4358	TT,TC,CC		14.771,11.2035,13.6743	benign	641/1715	86512536	1604,10126	1803	4062	5865	SO:0001583	missense	255631	exon12			TTTCCACGGATCC	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.1922G>A	1.37:g.86512536C>T	ENSP00000359603:p.Arg641His	Somatic	446	1	0.00224215		WXS	Illumina HiSeq	Phase_I	397	10	0.0251889	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	402	0.18406593406593408	59	0.11991869918699187	84	0.23204419889502761	161	0.28146853146853146	98	0.12928759894459102	C	11.28	1.591078	0.28357	0.112035	0.14771	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.95035	-3.59;-3.59	4.22	4.22	0.49857	.	0.000000	0.38272	N	0.001752	D	0.86171	0.5869	L	0.38953	1.18	0.35679	P	0.18606299999999998	B;B	0.18013	0.025;0.004	B;B	0.13407	0.009;0.002	T	0.83293	-0.0032	9	0.41790	T	0.15	.	12.3912	0.55360	0.0:1.0:0.0:0.0	rs60891279	641;641	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	641	ENSP00000359603:R641H;ENSP00000392531:R641H	ENSP00000359603:R641H	R	-	2	0	COL24A1	86285124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.707000	0.37888	2.616000	0.88540	0.655000	0.94253	CGT	C|0.832;T|0.168	0.168	strong		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		T	86512536	C	T	86512536	3	4	27	1	0	0	0	0	1	0	0	0	3683	536	19	1	3418	1	COL24A1	1	86512536	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	776076	86512536	162738085	25	21713										
SLC16A4	9122	hgsc.bcm.edu	37	chr1	110924353	110924353	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatatccaccagtaacaacGaaagccccaagaatggaggt	9	10	0	2	rs3738750	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:110924353G>A	ENST00000369779.4	-	4	534	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000541986.1_Silent_p.F33F|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000369781.4_Silent_p.F95F|SLC16A4_ENST00000472422.2_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	95					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F95F(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAGTAACAACGAAAGCCCCAA	0.418													G|||	881	0.175919	0.0318	0.1614	5008	,	,		20217	0.2609		0.1889	False		,,,				2504	0.2802				p.F95F		Atlas-SNP	.											SLC16A4,NS,carcinoma,0,2	SLC16A4	47	2	1	Substitution - coding silent(1)	stomach(1)	c.C285T						scavenged	.	G	,,,,	245,4161	145.0+/-179.8	6,233,1964	111	102	105		,99,,285,285	0.8	0	1	dbSNP_107	105	1593,7007	297.9+/-303.7	135,1323,2842	no	intron,coding-synonymous,intron,coding-synonymous,coding-synonymous	SLC16A4	NM_001201546.1,NM_001201547.1,NM_001201548.1,NM_001201549.1,NM_004696.2	,,,,	141,1556,4806	AA,AG,GG		18.5233,5.5606,14.1319	,,,,	,33/426,,95/320,95/488	110924353	1838,11168	2203	4300	6503	SO:0001819	synonymous_variant	9122	exon4			AACAACGAAAGCC	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.285C>T	1.37:g.110924353G>A		Somatic	441	1	0.00226757		WXS	Illumina HiSeq	Phase_I	448	8	0.0178571	NM_004696	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	ENST00000369779.4	37	CCDS823.1																																																																																			G|0.839;A|0.161	0.161	strong		0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		A	110924353	G	A	110924353	2	1	27	1	0	0	0	0	0	0	0	1	14410	1049	37	1		1	SLC16A4	1	110924353	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	24411817	110924353	138326268	26	21714										
SYT6	148281	hgsc.bcm.edu	37	chr1	114680540	114680540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttggcatcctccccatccacCgacttctgcttgtagagctc	7	16	1	1	rs17032441	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:114680540C>T	ENST00000610222.1	-	3	794	c.648G>A	c.(646-648)tcG>tcA	p.S216S	SYT6_ENST00000369547.1_Silent_p.S131S|SYT6_ENST00000607941.1_Silent_p.S131S|SYT6_ENST00000393296.1_Silent_p.S216S|SYT6_ENST00000609117.1_Silent_p.S131S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	216					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.S131S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCATCCACCGACTTCTGCT	0.557													c|||	1040	0.207668	0.2247	0.1628	5008	,	,		21878	0.2579		0.2078	False		,,,				2504	0.1646				p.S131S		Atlas-SNP	.											SYT6,NS,carcinoma,0,1	SYT6	66	1	1	Substitution - coding silent(1)	stomach(1)	c.G393A						PASS	.	T		836,3570	331.5+/-302.0	74,688,1441	116	101	106		393	-10.8	0.4	1	dbSNP_123	106	1817,6783	327.6+/-317.9	191,1435,2674	no	coding-synonymous	SYT6	NM_205848.2		265,2123,4115	TT,TC,CC		21.1279,18.9741,20.3983		131/426	114680540	2653,10353	2203	4300	6503	SO:0001819	synonymous_variant	148281	exon3			ATCCACCGACTTC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.648G>A	1.37:g.114680540C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	71	6	0.084507	NM_205848	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37																																																																																				.	.	alt		0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		T	114680540	C	T	114680540	2	4	27	1	0	0	0	0	0	0	0	1	15475	639	23	1		1	SYT6	1	114680540	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3756187	114680540	134570081	27	21715										
PTGFRN	5738	hgsc.bcm.edu	37	chr1	117491909	117491909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagaccgagccgatgacgtcCggcccgaggtgacgtggtcc	15	14	0	3	rs560392261	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:117491909C>T	ENST00000393203.2	+	4	1075	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	310	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CGATGACGTCCGGCCCGAGGT	0.597													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18404	0.0		0.0	False		,,,				2504	0.0				p.R310W		Atlas-SNP	.											.	PTGFRN	91	.	0			c.C928T						PASS	.						115	99	105					1																	117491909		2203	4300	6503	SO:0001583	missense	5738	exon4			GACGTCCGGCCCG	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.928C>T	1.37:g.117491909C>T	ENSP00000376899:p.Arg310Trp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	18	0.310345	NM_020440	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741688	0.30865	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.65916	-0.18	5.77	2.78	0.32641	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.19786	N	0.106117	T	0.43478	0.1249	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	P	0.59703	0.862	T	0.28004	-1.0057	10	0.66056	D	0.02	-17.914	4.9405	0.13963	0.1512:0.6227:0.146:0.0801	.	310	Q9P2B2	FPRP_HUMAN	W	310;169	ENSP00000376899:R310W	ENSP00000376899:R310W	R	+	1	2	PTGFRN	117293432	0.445000	0.25657	0.005000	0.12908	0.012000	0.07955	2.573000	0.46007	0.781000	0.33589	-0.254000	0.11334	CGG	.	.	none		0.597	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		T	117491909	C	T	117491909	3	4	27	1	0	0	0	0	1	0	0	0	12750	643	23	1	942	1	PTGFRN	1	117491909	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2811369	117491909	131758712	28	21716										
FAM46C	54855	hgsc.bcm.edu	37	chr1	118166096	118166096	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gactgttccaataatcccatCtctgagcacttccaccccac	4	17	1	1	rs2884587	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:118166096C>T	ENST00000369448.3	+	2	853	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	202										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATAATCCCATCTCTGAGCACT	0.483			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			C|||	673	0.134385	0.0159	0.2233	5008	,	,		21188	0.1141		0.164	False		,,,				2504	0.2219				p.I202I		Atlas-SNP	.		Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	.	FAM46C	25	.	0			c.C606T						PASS	.	C		211,4195	129.0+/-165.8	10,191,2002	137	132	134		606	1.5	0.9	1	dbSNP_101	134	1423,7177	273.5+/-290.7	121,1181,2998	no	coding-synonymous	FAM46C	NM_017709.3		131,1372,5000	TT,TC,CC		16.5465,4.7889,12.5634		202/392	118166096	1634,11372	2203	4300	6503	SO:0001819	synonymous_variant	54855	exon2			TCCCATCTCTGAG	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.606C>T	1.37:g.118166096C>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	117	5	0.042735	NM_017709	A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	CCDS896.1																																																																																			C|0.874;T|0.126	0.126	strong		0.483	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		T	118166096	C	T	118166096	2	4	27	1	0	0	0	0	0	0	0	1	5567	903	32	2		2	FAM46C	1	118166096	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	674187	118166096	131084525	29	21717										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcaccagtctgccgacaggTgcctccattgacacaaggtg	11	13	2	1	rs200464440		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.T235S		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2	348	2	0			c.A703T						scavenged	.						50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GACAGGTGCCTCC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser	Somatic	257	4	0.0155642		WXS	Illumina HiSeq	Phase_I	250	7	0.028	NM_001200001	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC	.	.	weak		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	27	1	0	0	0	0	1	0	0	0	10548	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	2373572	120539668	128710953	30	21718										
FLG2	388698	hgsc.bcm.edu	37	chr1	152328051	152328051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccagaggactgacctgagccTgatccatgttggccaaagct	11	12	0	4			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:152328051T>C	ENST00000388718.5	-	3	2283	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	737	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGAGCCTGATCCATGTT	0.502																																					p.S737S		Atlas-SNP	.											FLG2,NS,carcinoma,-1,1	FLG2	431	1	0			c.A2211G						scavenged	.						313	309	310					1																	152328051		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			TGAGCCTGATCCA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2211A>G	1.37:g.152328051T>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	191	6	0.0314136	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.	.	none		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152328051	T	C	152328051	2	2	27	1	0	0	0	0	0	0	0	1	5923	1567	55	3		3	FLG2	1	152328051	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	31788383	152328051	96922570	31	21719										
ARHGEF2	9181	hgsc.bcm.edu	37	chr1	155920171	155920171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcactgctgtcttgcagccGctcttcggggctccccagtt	11	15	3	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:155920171G>A	ENST00000361247.4	-	21	2905	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R937W|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R981W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R935W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R908W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R908W|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	936					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTGCAGCCGCTCTTCGGGG	0.627																																					p.R936W	Melanoma(178;35 2768 6610 28839)	Atlas-SNP	.											.	ARHGEF2	81	.	0			c.C2806T						PASS	.						58	55	56					1																	155920171		2203	4300	6503	SO:0001583	missense	9181	exon21			GCAGCCGCTCTTC	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2806C>T	1.37:g.155920171G>A	ENSP00000354837:p.Arg936Trp	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	16	0.222222	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300726	0.40694	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.69561	-0.4;-0.28;-0.29;-0.4;-0.41	5.98	5.06	0.68205	.	0.177972	0.27319	N	0.019911	T	0.42877	0.1222	N	0.19112	0.55	0.33849	D	0.632384	D;P;P;D	0.60575	0.975;0.916;0.95;0.988	B;B;P;B	0.46275	0.312;0.312;0.51;0.386	T	0.54111	-0.8342	10	0.62326	D	0.03	-22.727	12.5577	0.56263	0.0:0.0:0.8335:0.1665	.	980;936;935;937	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	W	908;936;937;908;935	ENSP00000315325:R908W;ENSP00000354837:R936W;ENSP00000357298:R937W;ENSP00000357299:R908W;ENSP00000314787:R935W	ENSP00000314787:R935W	R	-	1	2	ARHGEF2	154186795	1.000000	0.71417	0.973000	0.42090	0.242000	0.25591	4.760000	0.62235	1.518000	0.48934	-0.181000	0.13052	CGG	.	.	none		0.627	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155920171	G	A	155920171	3	1	27	1	0	0	0	0	1	0	0	0	903	1086	38	1	162	1	ARHGEF2	1	155920171	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3592120	155920171	93330450	32	21720										
PEAR1	375033	hgsc.bcm.edu	37	chr1	156877797	156877797	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaacggcggcctctgtgacCgattcactgggcagtgccgc	13	14	2	1	rs77235035	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:156877797C>A	ENST00000338302.3	+	9	1081	c.856C>A	c.(856-858)Cga>Aga	p.R286R	PEAR1_ENST00000292357.7_Silent_p.R286R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	286	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCTGTGACCGATTCACTGG	0.692													C|||	1140	0.227636	0.2383	0.1931	5008	,	,		12560	0.3502		0.1223	False		,,,				2504	0.2198				p.R286R		Atlas-SNP	.											PEAR1,NS,carcinoma,0,2	PEAR1	118	2	0			c.C856A						scavenged	.	C		972,3404		115,742,1331	13	14	14		856	3.6	1	1	dbSNP_131	14	1050,7512		71,908,3302	no	coding-synonymous	PEAR1	NM_001080471.1		186,1650,4633	AA,AC,CC		12.2635,22.2121,15.6284		286/1038	156877797	2022,10916	2188	4281	6469	SO:0001819	synonymous_variant	375033	exon8			TGTGACCGATTCA	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.856C>A	1.37:g.156877797C>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	227	8	0.0352423	NM_001080471	Q8TEK2	Silent	SNP	ENST00000338302.3	37	CCDS30892.1																																																																																			C|0.810;A|0.190	0.190	strong		0.692	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156877797	C	A	156877797	2	1	27	1	0	0	0	0	0	0	0	1	11712	644	23	4		4	PEAR1	1	156877797	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	957626	156877797	92372824	33	21721										
FCRLA	84824	hgsc.bcm.edu	37	chr1	161681780	161681780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagctgaaccccaagcaggaAgccccatgaccctgagttgt	10	14	0	3	rs2275603	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:161681780A>G	ENST00000236938.6	+	4	849	c.607A>G	c.(607-609)Agc>Ggc	p.S203G	FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367959.2_Missense_Mutation_p.S209G|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.S52G|FCRLA_ENST00000309691.6_Missense_Mutation_p.S97G|FCRLA_ENST00000540521.1_Missense_Mutation_p.S69G|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.S192G|FCRLA_ENST00000546024.1_Missense_Mutation_p.S114G|FCRLA_ENST00000367953.3_Missense_Mutation_p.S192G|FCRLA_ENST00000367957.2_Missense_Mutation_p.S63G|FCRLA_ENST00000350710.3_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	186	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAAGCAGGAAGCCCCATGAC	0.522													G|||	2389	0.477037	0.764	0.4553	5008	,	,		17754	0.5734		0.2078	False		,,,				2504	0.2822				p.S209G		Atlas-SNP	.											.	FCRLA	101	.	0			c.A625G						PASS	.	G	GLY/SER,GLY/SER,GLY/SER,,GLY/SER,,GLY/SER	2903,1503	477.0+/-357.8	980,943,280	116	145	135		625,340,205,,187,,607	-8.4	0	1	dbSNP_100	135	1882,6718	726.9+/-406.6	220,1442,2638	yes	missense,missense,missense,intron,missense,intron,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	56,56,56,,56,,56	1200,2385,2918	GG,GA,AA		21.8837,34.1126,36.7907	benign,benign,benign,,benign,,benign	209/383,114/288,69/243,,63/237,,203/377	161681780	4785,8221	2203	4300	6503	SO:0001583	missense	84824	exon5			GCAGGAAGCCCCA	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.607A>G	1.37:g.161681780A>G	ENSP00000236938:p.Ser203Gly	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	189	8	0.042328	NM_001184866	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	977	0.44734432234432236	357	0.725609756097561	143	0.39502762430939226	317	0.5541958041958042	160	0.21108179419525067	G	0.009	-1.843804	0.00568	0.658874	0.218837	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.57	-8.4	0.00965	.	0.922351	0.09125	N	0.845187	T	0.02610	0.0079	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.15484	0.001;0.013;0.001;0.0;0.001	T	0.46105	-0.9215	9	0.08837	T	0.75	.	20.1836	0.98210	0.8865:0.0:0.1135:0.0	rs2275603;rs60711230;rs2275603	69;63;114;209;203	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	G	203;209;114;69;192;63;97;52;192	ENSP00000236938:S203G;ENSP00000356936:S209G;ENSP00000439838:S114G;ENSP00000442870:S69G;ENSP00000446380:S192G;ENSP00000356934:S63G;ENSP00000309596:S97G;ENSP00000294796:S52G;ENSP00000356930:S192G	ENSP00000236938:S203G	S	+	1	0	FCRLA	159948404	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.373000	0.07494	-2.199000	0.00748	-0.930000	0.02707	AGC	A|0.595;G|0.405	0.405	strong		0.522	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		G	161681780	A	G	161681780	3	3	27	1	0	0	0	0	1	0	0	0	5800	72	3	3	643	3	FCRLA	1	161681780	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	4803983	161681780	87568841	34	21722										
TDRD5	163589	hgsc.bcm.edu	37	chr1	179562740	179562740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgagtaccttaccgaggaagGgttgcccctattcttccagc	10	13	1	0	rs61310274	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:179562740G>C	ENST00000367614.1	+	3	737	c.378G>C	c.(376-378)agG>agC	p.R126S	TDRD5_ENST00000294848.8_Missense_Mutation_p.R126S|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000444136.1_Missense_Mutation_p.R126S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	126				R -> S (in Ref. 3; AAI30533/AAI44059). {ECO:0000305}.	DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACCGAGGAAGGGTTGCCCCTA	0.453													G|||	1541	0.307708	0.0877	0.4092	5008	,	,		20589	0.371		0.3897	False		,,,				2504	0.3834				p.R126S		Atlas-SNP	.											TDRD5,NS,neuroblastoma,+1,1	TDRD5	149	1	0			c.G378C						scavenged	.	G	SER/ARG,SER/ARG,SER/ARG,SER/ARG	658,3748	279.6+/-274.9	54,550,1599	167	155	159		378,378,378,378	2.6	1	1	dbSNP_129	159	3124,5476	477.0+/-369.5	555,2014,1731	yes	missense,missense,missense,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3	110,110,110,110	609,2564,3330	CC,CG,GG		36.3256,14.9342,29.0789	probably-damaging,probably-damaging,probably-damaging,probably-damaging	126/1036,126/1036,126/982,126/982	179562740	3782,9224	2203	4300	6503	SO:0001583	missense	163589	exon3			AGGAAGGGTTGCC	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.378G>C	1.37:g.179562740G>C	ENSP00000356586:p.Arg126Ser	Somatic	192	1	0.00520833		WXS	Illumina HiSeq	Phase_I	260	6	0.0230769	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	725	0.33195970695970695	46	0.09349593495934959	153	0.42265193370165743	236	0.4125874125874126	290	0.38258575197889183	G	18.60	3.658717	0.67586	0.149342	0.363256	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.12879	2.64;2.64;2.78	5.59	2.58	0.30949	.	0.200944	0.41194	D	0.000923	T	0.00012	0.0000	L	0.27053	0.805	0.31208	P	0.6990000000000001	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.46162	-0.9211	9	0.30854	T	0.27	-0.0298	7.1341	0.25519	0.3841:0.0:0.6159:0.0	rs61310274	126;126	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	126	ENSP00000356586:R126S;ENSP00000294848:R126S;ENSP00000406052:R126S	ENSP00000294848:R126S	R	+	3	2	TDRD5	177829363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.835000	0.27531	0.625000	0.30304	0.655000	0.94253	AGG	G|0.693;C|0.307	0.307	strong		0.453	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		C	179562740	G	C	179562740	3	2	27	1	0	0	0	0	1	0	0	0	15730	1223	43	4	384	4	TDRD5	1	179562740	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17880960	179562740	69687881	35	21723										
CFH	3075	hgsc.bcm.edu	37	chr1	196695742	196695742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagggacctaataaaattcaAtgtgttgatggagagtggac	12	4	1	2	rs3753396	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:196695742A>G	ENST00000367429.4	+	13	2256	c.2016A>G	c.(2014-2016)caA>caG	p.Q672Q		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	672	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATAAAATTCAATGTGTTGATG	0.299													A|||	1016	0.202875	0.0378	0.1916	5008	,	,		15851	0.5099		0.1759	False		,,,				2504	0.1452				p.Q672Q		Atlas-SNP	.											CFH,NS,carcinoma,+2,3	CFH	251	3	0			c.A2016G	GRCh37	CM033783	CFH	M	rs3753396	scavenged	.	A		293,4113	159.2+/-191.8	10,273,1920	95	98	97		2016	-2.2	0.9	1	dbSNP_107	97	1488,7112	281.7+/-295.2	140,1208,2952	no	coding-synonymous	CFH	NM_000186.3		150,1481,4872	GG,GA,AA		17.3023,6.65,13.6937		672/1232	196695742	1781,11225	2203	4300	6503	SO:0001819	synonymous_variant	3075	exon13			AATTCAATGTGTT	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2016A>G	1.37:g.196695742A>G		Somatic	441	1	0.00226757		WXS	Illumina HiSeq	Phase_I	570	6	0.0105263	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	CCDS1385.1																																																																																			A|0.777;G|0.223	0.223	strong		0.299	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		G	196695742	A	G	196695742	2	3	27	1	0	0	0	0	0	0	0	1	3283	98	4	2		2	CFH	1	196695742	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	17133002	196695742	52554879	36	21724										
CFHR4	3080	hgsc.bcm.edu	37	chr1	196884258	196884258	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagagtggtcggaaccaccAagatgcatacgtaagttctt	12	8	1	2	rs150845796		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:196884258A>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Silent_p.P263P|CFHR4_ENST00000608469.1_Silent_p.P133P|CFHR4_ENST00000251424.4_Silent_p.P263P|CFHR4_ENST00000367416.2_Silent_p.P509P			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CGGAACCACCAAGATGCATAC	0.358																																					p.P510P		Atlas-SNP	.											CFHR4_ENST00000367416,right_lower_lobe,carcinoma,+1,2	CFHR4	141	2	0			c.A1530T						scavenged	.						67	69	68					1																	196884258		2199	4295	6494	SO:0001627	intron_variant	10877	exon9			ACCACCAAGATGC	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34327A>T	1.37:g.196884258A>T		Somatic	733	2	0.00272851		WXS	Illumina HiSeq	Phase_I	890	13	0.0146067	NM_001201550	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																				.	.	weak		0.358	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		T	196884258	A	T	196884258	1	4	27	0	1	0	0	0	0	0	0	0	3287	117	5	5		5	CFHR4	1	196884258	Intron	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	188516	196884258	52366363	37	21725										
IKBKE	9641	hgsc.bcm.edu	37	chr1	206651107	206651107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgcaggtaccggatcaccacGgagaagccggctggggccat	15	13	1	1	rs2297545	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:206651107G>A	ENST00000367120.3	+	8	1090	c.717G>A	c.(715-717)acG>acA	p.T239T	IKBKE_ENST00000537984.1_Silent_p.T154T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGATCACCACGGAGAAGCCGG	0.652													G|||	1580	0.315495	0.1558	0.402	5008	,	,		15713	0.6131		0.2286	False		,,,				2504	0.2526				p.T239T		Atlas-SNP	.											IKBKE,NS,carcinoma,0,1	IKBKE	77	1	0			c.G717A						scavenged	.	G	,,	716,3650		56,604,1523	13	14	13		462,717,717	-9.1	0.1	1	dbSNP_100	13	1791,6755		176,1439,2658	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	232,2043,4181	AA,AG,GG		20.9572,16.3995,19.416	,,	154/632,239/658,239/717	206651107	2507,10405	2183	4273	6456	SO:0001819	synonymous_variant	9641	exon8			CACCACGGAGAAG	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.717G>A	1.37:g.206651107G>A		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	168	4	0.0238095	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																			G|0.745;A|0.255	0.255	strong		0.652	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			A	206651107	G	A	206651107	2	1	27	1	0	0	0	0	0	0	0	1	7612	1103	39	1		1	IKBKE	1	206651107	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9766849	206651107	42599514	38	21726										
USH2A	7399	hgsc.bcm.edu	37	chr1	216420482	216420482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaatttgttcactgagccatGgaggttacactggcagggct	13	8	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:216420482G>T	ENST00000307340.3	-	13	2640	c.2254C>A	c.(2254-2256)Cat>Aat	p.H752N	USH2A_ENST00000366943.2_Missense_Mutation_p.H752N|USH2A_ENST00000366942.3_Missense_Mutation_p.H752N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	752	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGAGCCATGGAGGTTACAC	0.413										HNSCC(13;0.011)																											p.H752N		Atlas-SNP	.											.	USH2A	1168	.	0			c.C2254A						PASS	.						105	108	107					1																	216420482		2203	4300	6503	SO:0001583	missense	7399	exon13			AGCCATGGAGGTT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2254C>A	1.37:g.216420482G>T	ENSP00000305941:p.His752Asn	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	154	33	0.214286	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880963	0.33255	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61742	0.08;0.08;0.08	5.89	1.43	0.22495	EGF-like, laminin (3);	0.310145	0.22620	N	0.057702	T	0.45696	0.1355	L	0.34521	1.04	0.28645	N	0.906962	B;P	0.42584	0.041;0.784	B;P	0.45753	0.04;0.492	T	0.33624	-0.9861	10	0.28530	T	0.3	.	6.7169	0.23308	0.2729:0.0:0.6066:0.1205	.	752;752	O75445-2;O75445	.;USH2A_HUMAN	N	752	ENSP00000305941:H752N;ENSP00000355910:H752N;ENSP00000355909:H752N	ENSP00000305941:H752N	H	-	1	0	USH2A	214487105	0.529000	0.26322	0.945000	0.38365	0.997000	0.91878	-0.016000	0.12613	0.393000	0.25203	0.655000	0.94253	CAT	.	.	none		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216420482	G	T	216420482	3	4	27	1	0	0	0	0	1	0	0	0	17033	1348	47	4	13608	4	USH2A	1	216420482	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9769375	216420482	32830139	39	21727										
HHIPL2	79802	hgsc.bcm.edu	37	chr1	222713503	222713503	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atccggcctcggccctggcgCgtgatggggtcccctcggtc	15	16	0	1	rs3748664	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:222713503C>G	ENST00000343410.6	-	4	1357	c.1299G>C	c.(1297-1299)acG>acC	p.T433T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	433					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGCCCTGGCGCGTGATGGGGT	0.567													C|||	1881	0.375599	0.3434	0.5058	5008	,	,		17111	0.5089		0.2604	False		,,,				2504	0.3078				p.T433T		Atlas-SNP	.											HHIPL2,colon,carcinoma,0,1	HHIPL2	122	1	0			c.G1299C						PASS	.	C		1446,2960	466.2+/-354.4	222,1002,979	70	70	70		1299	-11	0	1	dbSNP_107	70	2505,6095	408.3+/-349.4	366,1773,2161	no	coding-synonymous	HHIPL2	NM_024746.3		588,2775,3140	GG,GC,CC		29.1279,32.8189,30.3783		433/725	222713503	3951,9055	2203	4300	6503	SO:0001819	synonymous_variant	79802	exon4			CTGGCGCGTGATG	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1299G>C	1.37:g.222713503C>G		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																			C|0.679;G|0.321	0.321	strong		0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		G	222713503	C	G	222713503	2	3	27	1	0	0	0	0	0	0	0	1	7094	755	27	4		4	HHIPL2	1	222713503	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	6293021	222713503	26537118	40	21728										
WNT9A	7483	hgsc.bcm.edu	37	chr1	228109471	228109471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agctctggagtgcggggcagCgggtcgctgccacctgcccc	16	15	1	0	rs8192633	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:228109471C>T	ENST00000272164.5	-	4	856	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	282					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCGGGGCAGCGGGTCGCTGC	0.711													C|||	82	0.0163738	0.0023	0.0086	5008	,	,		14842	0.0		0.0278	False		,,,				2504	0.046				p.P282P		Atlas-SNP	.											.	WNT9A	39	.	0			c.G846A						PASS	.	C		24,4378	29.0+/-57.7	0,24,2177	26	28	27		846	-9.3	0	1	dbSNP_117	27	180,8412	78.6+/-141.3	2,176,4118	no	coding-synonymous	WNT9A	NM_003395.2		2,200,6295	TT,TC,CC		2.095,0.5452,1.57		282/366	228109471	204,12790	2201	4296	6497	SO:0001819	synonymous_variant	7483	exon4			GGGCAGCGGGTCG	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.846G>A	1.37:g.228109471C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	44	20	0.454545	NM_003395	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	CCDS31045.1																																																																																			C|0.985;T|0.015	0.015	strong		0.711	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		T	228109471	C	T	228109471	2	4	27	1	0	0	0	0	0	0	0	1	17395	755	27	1		1	WNT9A	1	228109471	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5395968	228109471	21141150	41	21729										
URB2	9816	hgsc.bcm.edu	37	chr1	229772932	229772932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attgggaaaacagatttgcaAaagctggacccgaaggtata	11	6	0	1	rs3811474	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:229772932A>G	ENST00000258243.2	+	4	2708	c.2572A>G	c.(2572-2574)Aaa>Gaa	p.K858E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	858						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGATTTGCAAAAGCTGGACC	0.502													A|||	998	0.199281	0.1952	0.2421	5008	,	,		20179	0.4315		0.0636	False		,,,				2504	0.0746				p.K858E		Atlas-SNP	.											.	URB2	152	.	0			c.A2572G						PASS	.	A	GLU/LYS	844,3562	332.5+/-302.5	85,674,1444	86	90	89		2572	2.6	0	1	dbSNP_107	89	553,8047	150.6+/-205.5	14,525,3761	yes	missense	URB2	NM_014777.2	56	99,1199,5205	GG,GA,AA		6.4302,19.1557,10.7412	possibly-damaging	858/1525	229772932	1397,11609	2203	4300	6503	SO:0001583	missense	9816	exon4			TTTGCAAAAGCTG	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2572A>G	1.37:g.229772932A>G	ENSP00000258243:p.Lys858Glu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	100	8	0.08	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	489	0.2239010989010989	99	0.20121951219512196	75	0.20718232044198895	271	0.4737762237762238	44	0.05804749340369393	A	7.495	0.651409	0.14516	0.191557	0.064302	ENSG00000135763	ENST00000258243	T	0.30182	1.54	4.95	2.59	0.31030	.	0.631054	0.17336	N	0.177928	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.21381	0.055	B	0.20955	0.032	T	0.47249	-0.9132	8	.	.	.	-2.8656	2.4527	0.04522	0.6029:0.1342:0.1332:0.1297	rs3811474;rs61291674;rs3811474	858	Q14146	URB2_HUMAN	E	858	ENSP00000258243:K858E	.	K	+	1	0	URB2	227839555	0.017000	0.18338	0.001000	0.08648	0.505000	0.33919	2.475000	0.45162	0.831000	0.34780	0.477000	0.44152	AAA	A|0.836;G|0.164	0.164	strong		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		G	229772932	A	G	229772932	3	3	27	1	0	0	0	0	1	0	0	0	17022	15	1	2	2582	2	URB2	1	229772932	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1663461	229772932	19477689	42	21730										
SIPA1L2	57568	hgsc.bcm.edu	37	chr1	232539219	232539219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtgtccatgaactctttgcCactgcctggatctacacata	7	12	2	1	rs2275303	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:232539219C>T	ENST00000366630.1	-	20	5273	c.4915G>A	c.(4915-4917)Ggc>Agc	p.G1639S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G1639S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G695S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1639			G -> S (in dbSNP:rs2275303).		regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACTCTTTGCCACTGCCTGGA	0.562													C|||	617	0.123203	0.0	0.072	5008	,	,		17239	0.4593		0.0089	False		,,,				2504	0.0971				p.G1639S		Atlas-SNP	.											.	SIPA1L2	218	.	0			c.G4915A						PASS	.	C	SER/GLY	18,3958		0,18,1970	90	101	98		4915	2.1	0.2	1	dbSNP_100	98	52,8272		0,52,4110	yes	missense	SIPA1L2	NM_020808.3	56	0,70,6080	TT,TC,CC		0.6247,0.4527,0.5691	possibly-damaging	1639/1723	232539219	70,12230	1988	4162	6150	SO:0001583	missense	57568	exon19			CTTTGCCACTGCC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4915G>A	1.37:g.232539219C>T	ENSP00000355589:p.Gly1639Ser	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	42	4	0.0952381	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	304	0.1391941391941392	0	0.0	23	0.06353591160220995	272	0.4755244755244755	9	0.011873350923482849	C	8.696	0.908662	0.17833	0.004527	0.006247	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.29397	1.57;1.57;1.57	4.94	2.09	0.27110	.	0.953922	0.08825	N	0.888251	T	0.00012	0.0000	L	0.43152	1.355	0.31410	P	0.675603	B;B	0.23735	0.09;0.001	B;B	0.28385	0.089;0.002	T	0.47100	-0.9143	9	0.30078	T	0.28	-7.8586	10.1777	0.42948	0.0:0.7843:0.0:0.2157	rs2275303;rs52800362;rs2275303	1639;695	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	S	1639;1639;695	ENSP00000355589:G1639S;ENSP00000262861:G1639S;ENSP00000309102:G695S	ENSP00000262861:G1639S	G	-	1	0	SIPA1L2	230605842	0.993000	0.37304	0.186000	0.23195	0.689000	0.40095	1.823000	0.39062	0.309000	0.22966	-0.149000	0.13747	GGC	C|0.855;T|0.145	0.145	strong		0.562	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232539219	C	T	232539219	3	4	27	1	0	0	0	0	1	0	0	0	14330	594	21	2	265	2	SIPA1L2	1	232539219	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2766287	232539219	16711402	43	21731										
OR2M5	127059	hgsc.bcm.edu	37	chr1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tactaatcctctcatgcaatGacacatcaatatttgaaaag	4	9	2	2	rs139290187	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		Atlas-SNP	.											OR2M5,NS,carcinoma,0,2	OR2M5	117	2	0			c.G571A						scavenged	.						284	272	276					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	253	8	0.0316206	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.996;A|0.004	0.004	strong		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309020	G	A	248309020	3	1	27	1	0	0	0	0	1	0	0	0	11013	1290	45	2	573	2	OR2M5	1	248309020	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	15769801	248309020	941601	44	21732										
HS1BP3	64342	hgsc.bcm.edu	37	chr2	20824559	20824559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcccgggccaaagagcccCtcatcagggtccacctcctc	9	19	2	1	rs2305457	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:20824559C>T	ENST00000304031.3	-	5	742	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	239							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGAGCCCCTCATCAGGGT	0.612													C|||	1380	0.275559	0.0333	0.366	5008	,	,		18239	0.4881		0.2614	False		,,,				2504	0.3344				p.E239E		Atlas-SNP	.											.	HS1BP3	33	.	0			c.G717A						PASS	.	C		325,4081	170.1+/-200.6	9,307,1887	74	81	79		717	0.7	0.3	2	dbSNP_100	79	2227,6373	378.2+/-338.8	303,1621,2376	no	coding-synonymous	HS1BP3	NM_022460.3		312,1928,4263	TT,TC,CC		25.8953,7.3763,19.6217		239/393	20824559	2552,10454	2203	4300	6503	SO:0001819	synonymous_variant	64342	exon5			GAGCCCCTCATCA		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.717G>A	2.37:g.20824559C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	6	0.0895522	NM_022460	B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	CCDS1700.1	629	0.288003663003663	21	0.042682926829268296	125	0.3453038674033149	284	0.4965034965034965	199	0.262532981530343	C	0.179	-1.064030	0.01934	0.073763	0.258953	ENSG00000118960	ENST00000445102	.	.	.	4.7	0.696	0.18075	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.47661	-0.9100	3	.	.	.	-5.486	3.0218	0.06078	0.172:0.3953:0.3349:0.0978	rs2305457;rs2305457	.	.	.	R	32	.	.	G	-	1	0	HS1BP3	20688040	0.000000	0.05858	0.278000	0.24718	0.003000	0.03518	-0.441000	0.06879	0.580000	0.29522	-0.176000	0.13171	GGG	C|0.772;T|0.228	0.228	strong		0.612	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		T	20824559	C	T	20824559	2	4	27	1	0	0	0	0	0	0	0	1	7361	680	24	2		2	HS1BP3	2	20824559	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		20824559	222374814	45	21733										
ALK	238	hgsc.bcm.edu	37	chr2	29416481	29416481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtttctggatccgtggaccTtgtgcaactccgaaggaggg	14	9	1	0	rs1881420	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:29416481T>C	ENST00000389048.3	-	29	5378	c.4472A>G	c.(4471-4473)aAg>aGg	p.K1491R	ALK_ENST00000431873.1_Missense_Mutation_p.K321R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1491			K -> R (in dbSNP:rs1881420). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9053841, ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1491R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCCGTGGACCTTGTGCAACTC	0.532			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T|||	2079	0.415136	0.2405	0.4467	5008	,	,		18547	0.7312		0.2336	False		,,,				2504	0.4898				p.K1491R		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,NS,carcinoma,0,1	ALK	533	1	1	Substitution - Missense(1)	prostate(1)	c.A4472G						scavenged	.		ARG/LYS	1068,3338	389.1+/-327.2	147,774,1282	113	118	116		4472	1.9	0.4	2	dbSNP_92	116	1837,6763	330.1+/-319.0	216,1405,2679	yes	missense	ALK	NM_004304.4	26	363,2179,3961	CC,CT,TT		21.3605,24.2397,22.3358	benign	1491/1621	29416481	2905,10101	2203	4300	6503	SO:0001583	missense	238	exon29	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TGGACCTTGTGCA	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4472A>G	2.37:g.29416481T>C	ENSP00000373700:p.Lys1491Arg	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	180	3	0.0166667	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	863	0.39514652014652013	114	0.23170731707317074	151	0.4171270718232044	415	0.7255244755244755	183	0.24142480211081793	t	13.96	2.391818	0.42410	0.242397	0.213605	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77489	-1.1;2.84	5.64	1.9	0.25705	.	0.124743	0.35349	U	0.003264	T	0.00012	0.0000	L	0.60455	1.87	0.51233	P	8.500000000000174E-5	B	0.02656	0.0	B	0.08055	0.003	T	0.44467	-0.9326	9	0.23302	T	0.38	.	6.8496	0.24008	0.0:0.1336:0.1271:0.7393	rs1881420;rs3738871;rs56441963;rs59805402;rs1881420	1491	Q9UM73	ALK_HUMAN	R	1491;321	ENSP00000373700:K1491R;ENSP00000414027:K321R	ENSP00000373700:K1491R	K	-	2	0	ALK	29269985	1.000000	0.71417	0.353000	0.25747	0.942000	0.58702	2.447000	0.44917	0.089000	0.17243	0.454000	0.30748	AAG	T|0.684;G|0.005	.	strong		0.532	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		C	29416481	T	C	29416481	3	2	27	1	0	0	0	0	1	0	0	0	525	1609	56	3	394	3	ALK	2	29416481	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	8591922	29416481	213782892	46	21734										
HEATR5B	54497	hgsc.bcm.edu	37	chr2	37234302	37234302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtagaacgtttttgtaaaccAgatattgctgctgcttctgt	9	7	1	2	rs74842279	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:37234302A>G	ENST00000233099.5	-	29	4763	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	HEATR5B_ENST00000354531.2_Silent_p.S1556S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1556						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S1556S(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTGTAAACCAGATATTGCTG	0.433													A|||	26	0.00519169	0.0	0.0	5008	,	,		14841	0.0258		0.0	False		,,,				2504	0.0				p.S1556S		Atlas-SNP	.											HEATR5B,NS,carcinoma,0,1	HEATR5B	185	1	1	Substitution - coding silent(1)	stomach(1)	c.T4668C						scavenged	.						145	133	137					2																	37234302		2203	4300	6503	SO:0001819	synonymous_variant	54497	exon29			TAAACCAGATATT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4668T>C	2.37:g.37234302A>G		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	217	7	0.0322581	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																			A|0.988;G|0.012	0.012	strong		0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		G	37234302	A	G	37234302	2	3	27	1	0	0	0	0	0	0	0	1	7032	175	7	3		3	HEATR5B	2	37234302	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7817821	37234302	205965071	47	21735										
PLEKHH2	130271	hgsc.bcm.edu	37	chr2	43953574	43953574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccaacttacctcctaattgGatccaagcatgaaaaggtat	6	10	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:43953574G>A	ENST00000282406.4	+	17	2815	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	902	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCCTAATTGGATCCAAGCAT	0.328																																					p.G902E		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.G2705A						PASS	.						92	88	89					2																	43953574		2203	4300	6503	SO:0001583	missense	130271	exon17			TAATTGGATCCAA	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2705G>A	2.37:g.43953574G>A	ENSP00000282406:p.Gly902Glu	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	190	8	0.0421053	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394856	0.62066	.	.	ENSG00000152527	ENST00000282406	T	0.19806	2.12	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.114213	0.64402	D	0.000011	T	0.19525	0.0469	L	0.31664	0.95	0.52501	D	0.999952	B;P	0.35155	0.232;0.487	B;B	0.35470	0.11;0.203	T	0.02471	-1.1154	10	0.28530	T	0.3	-15.3726	19.5645	0.95388	0.0:0.0:1.0:0.0	.	902;339	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	E	902	ENSP00000282406:G902E	ENSP00000282406:G902E	G	+	2	0	PLEKHH2	43807078	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.928000	0.70088	2.599000	0.87857	0.650000	0.86243	GGA	.	.	none		0.328	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43953574	G	A	43953574	3	1	27	1	0	0	0	0	1	0	0	0	12077	1174	41	2	2767	2	PLEKHH2	2	43953574	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6719272	43953574	199245799	48	21736										
EPCAM	4072	hgsc.bcm.edu	37	chr2	47601106	47601106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcagtgcaacggcacctccaTgtgctggtgtgtgaacactg	13	11	0	1	rs1126497|rs111849096	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:47601106T>C	ENST00000263735.4	+	3	702	c.344T>C	c.(343-345)aTg>aCg	p.M115T	EPCAM_ENST00000405271.1_Missense_Mutation_p.M143T	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	115	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.		M -> T (in dbSNP:rs1126497). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2108441, ECO:0000269|PubMed:2463074, ECO:0000269|PubMed:2469722}.		negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GGCACCTCCATGTGCTGGTGT	0.532													C|||	3336	0.666134	0.8888	0.5159	5008	,	,		17137	0.8323		0.4692	False		,,,				2504	0.5031				p.M115T		Atlas-SNP	.											.	EPCAM	27	.	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.T344C						PASS	.	C	THR/MET	3649,757	305.5+/-289.0	1530,589,84	74	69	70		344	1.7	0.4	2	dbSNP_86	70	3722,4878	618.5+/-396.8	801,2120,1379	yes	missense	EPCAM	NM_002354.2	81	2331,2709,1463	CC,CT,TT		43.2791,17.1811,43.3262	benign	115/315	47601106	7371,5635	2203	4300	6503	SO:0001583	missense	4072	exon3			CCTCCATGTGCTG	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"CD molecules"	11529	protein-coding gene	gene with protein product		185535	"antigen identified by monoclonal antibody AUA1", "tumor-associated calcium signal transducer 1"	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.344T>C	2.37:g.47601106T>C	ENSP00000263735:p.Met115Thr	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	126	7	0.0555556	NM_002354	P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	CCDS1833.1	1440	0.6593406593406593	437	0.8882113821138211	182	0.5027624309392266	460	0.8041958041958042	361	0.4762532981530343	C	3.317	-0.139650	0.06669	0.828189	0.432791	ENSG00000119888	ENST00000405271;ENST00000263735;ENST00000419334	T;T;T	0.62105	0.05;0.05;0.05	5.93	1.71	0.24356	Thyroglobulin type-1 (6);	0.527053	0.22416	N	0.060350	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44251	-0.9340	9	0.02654	T	1	-4.742	11.8944	0.52648	0.0:0.6732:0.0:0.3268	rs1126497;rs3181550;rs17845436;rs17858308;rs52820371;rs57528354;rs1126497	115;143	P16422;B5MCA4	EPCAM_HUMAN;.	T	143;115;191	ENSP00000385476:M143T;ENSP00000263735:M115T;ENSP00000389028:M191T	ENSP00000263735:M115T	M	+	2	0	EPCAM	47454610	0.325000	0.24660	0.371000	0.25978	0.878000	0.50629	0.040000	0.13905	0.160000	0.19432	-0.119000	0.15052	ATG	T|0.385;C|0.615	0.615	strong		0.532	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			C	47601106	T	C	47601106	3	2	27	1	0	0	0	0	1	0	0	0	5162	1464	51	2	354	2	EPCAM	2	47601106	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3647532	47601106	195598267	49	21737										
KDM3A	55818	hgsc.bcm.edu	37	chr2	86697366	86697366	+	Missense_Mutation	SNP	T	T	A													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttgacagacccagctaaacTcaaaaagctgcaacagagtg					rs186664065	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:86697366T>A	ENST00000409556.1	+	12	1924	c.1559T>A	c.(1558-1560)cTc>cAc	p.L520H	KDM3A_ENST00000409064.1_Missense_Mutation_p.L520H|KDM3A_ENST00000542128.1_Missense_Mutation_p.L468H|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.L520H			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	520					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L520H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCAGCTAAACTCAAAAAGCTG	0.443													T|||	14	0.00279553	0.0	0.0	5008	,	,		18531	0.0139		0.0	False		,,,				2504	0.0				p.L520H	NSCLC(96;1150 1523 6936 46253 49736)	Atlas-SNP	.											KDM3A,NS,carcinoma,0,1	KDM3A	179	1	1	Substitution - Missense(1)	stomach(1)	c.T1559A						scavenged	.						97	92	94					2																	86697366		2203	4300	6503	SO:0001583	missense	55818	exon11			CTAAACTCAAAAA	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1559T>A	2.37:g.86697366T>A	ENSP00000386660:p.Leu520His	Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	278	6	0.0215827	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	T	28.9	4.959103	0.92726	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.66	5.66	0.87406	.	0.521028	0.18414	N	0.141971	T	0.36552	0.0971	N	0.08118	0	0.39892	D	0.973789	D;D	0.54601	0.964;0.967	P;P	0.56700	0.804;0.642	T	0.54337	-0.8309	10	0.72032	D	0.01	.	15.065	0.71986	0.0:0.0:0.0:1.0	.	468;520	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	520;520;520;520;468	ENSP00000386660:L520H;ENSP00000323659:L520H;ENSP00000386516:L520H;ENSP00000438324:L468H	ENSP00000323659:L520H	L	+	2	0	KDM3A	86550877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.823000	0.86660	2.158000	0.67659	0.533000	0.62120	CTC	T|0.996;A|0.004	0.004	strong		0.443	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		A	86697366	T	A	86697366	3	1	27	1	0	0	0	0	1	0	0	0	8126	1551	54	5	1597	5	KDM3A	2	86697366	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	39096260	86697366	156502007	50	21738	438	2								
KDM3A	55818	hgsc.bcm.edu	37	chr2	86697367	86697367	+	Silent	SNP	C	C	T													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgacagacccagctaaactCaaaaagctgcaacagagtgg					rs189936092	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:86697367C>T	ENST00000409556.1	+	12	1925	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	KDM3A_ENST00000409064.1_Silent_p.L520L|KDM3A_ENST00000542128.1_Silent_p.L468L|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Silent_p.L520L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	520					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L520L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAGCTAAACTCAAAAAGCTGC	0.448													C|||	14	0.00279553	0.0	0.0	5008	,	,		18505	0.0139		0.0	False		,,,				2504	0.0				p.L520L	NSCLC(96;1150 1523 6936 46253 49736)	Atlas-SNP	.											KDM3A,NS,carcinoma,0,2	KDM3A	179	2	1	Substitution - coding silent(1)	stomach(1)	c.C1560T						scavenged	.						97	91	93					2																	86697367		2203	4300	6503	SO:0001819	synonymous_variant	55818	exon11			TAAACTCAAAAAG	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1560C>T	2.37:g.86697367C>T		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	276	6	0.0217391	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																			C|0.996;T|0.004	0.004	strong		0.448	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		T	86697367	C	T	86697367	2	4	27	1	0	0	0	0	0	0	0	1	8126	813	29	2		2	KDM3A	2	86697367	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1	86697367	156502006	51	21739	438	2								
KIAA1310	55683	hgsc.bcm.edu	37	chr2	97271090	97271090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccttgggaaggagcacaagGccctccagctgtgtcccctt	11	14	0	0	rs35715176	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:97271090G>A	ENST00000431828.1	-	15	1976	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S	KANSL3_ENST00000440133.1_Missense_Mutation_p.P454S|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.P547S|KANSL3_ENST00000441706.2_Intron			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	660					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGAGCACAAGGCCCTCCAGCT	0.537													G|||	216	0.043131	0.0008	0.013	5008	,	,		21220	0.1438		0.0249	False		,,,				2504	0.0368				p.P634S		Atlas-SNP	.											.	.	.	.	0			c.C1900T						PASS	.	G	SER/PRO,SER/PRO	19,3929		0,19,1955	81	82	81		1900,1639	2.6	0	2	dbSNP_126	81	128,8174		1,126,4024	yes	missense,missense	KIAA1310	NM_001115016.1,NM_017991.4	74,74	1,145,5979	AA,AG,GG		1.5418,0.4813,1.2	benign,benign	634/879,547/792	97271090	147,12103	1974	4151	6125	SO:0001583	missense	55683	exon15			CACAAGGCCCTCC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1900C>T	2.37:g.97271090G>A	ENSP00000396749:p.Pro634Ser	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	173	7	0.0404624	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	132	0.06043956043956044	1	0.0020325203252032522	6	0.016574585635359115	107	0.18706293706293706	18	0.023746701846965697	G	9.096	1.002849	0.19121	0.004813	0.015418	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.40476	1.03;1.05	5.42	2.62	0.31277	.	0.617048	0.17418	N	0.174938	T	0.00039	0.0001	N	0.04508	-0.205	0.54753	P	1.399999999995849E-5	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.25433	-1.0132	9	0.08179	T	0.78	.	5.0282	0.14396	0.1843:0.1741:0.6416:0.0	rs35715176	428;634;547;522	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	S	547;522;634;454;428	ENSP00000396749:P634S;ENSP00000406207:P454S	ENSP00000346144:P547S	P	-	1	0	KIAA1310	96634817	0.052000	0.20516	0.033000	0.17914	0.996000	0.88848	0.518000	0.22847	0.658000	0.30925	0.655000	0.94253	CCT	G|0.949;A|0.051	0.051	strong		0.537	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		A	97271090	G	A	97271090	3	1	27	1	0	0	0	0	1	0	0	0	8222	1203	42	2	764	2	KIAA1310	2	97271090	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	10573723	97271090	145928283	52	21740										
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107459974	107459974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcccgtgggcctggctcccCgggggaagggaatcccaatg	15	14	0	0	rs3796110	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:107459974C>T	ENST00000409382.3	-	2	1070	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G154R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G154R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	154			G -> R (in dbSNP:rs3796110).		growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTGGCTCCCCGGGGGAAGGG	0.617													C|||	702	0.140176	0.1505	0.147	5008	,	,		14211	0.1369		0.1014	False		,,,				2504	0.1646				p.G154R		Atlas-SNP	.											ST6GAL2,NS,carcinoma,+1,1	ST6GAL2	159	1	0			c.G460A						PASS	.	C	ARG/GLY,ARG/GLY,ARG/GLY	655,3751	268.3+/-268.4	41,573,1589	82	99	93		460,460,460	-2.2	0	2	dbSNP_107	93	639,7961	160.4+/-213.5	20,599,3681	yes	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	125,125,125	61,1172,5270	TT,TC,CC		7.4302,14.8661,9.9493	benign,benign,benign	154/530,154/467,154/530	107459974	1294,11712	2203	4300	6503	SO:0001583	missense	84620	exon2			GCTCCCCGGGGGA	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.460G>A	2.37:g.107459974C>T	ENSP00000386942:p.Gly154Arg	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	112	7	0.0625	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	263	0.12042124542124542	73	0.1483739837398374	41	0.1132596685082873	73	0.12762237762237763	76	0.10026385224274406	C	4.589	0.109487	0.08780	0.148661	0.074302	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.30981	2.53;2.53;1.51	4.89	-2.16	0.07080	.	1.084480	0.07015	N	0.825771	T	0.00073	0.0002	N	0.08118	0	0.80722	P	0.0	B;B	0.21381	0.055;0.01	B;B	0.10450	0.005;0.003	T	0.37911	-0.9685	9	0.13470	T	0.59	-3.3377	13.0284	0.58829	0.0:0.4981:0.0:0.5019	rs3796110;rs61140784;rs3796110	154;154	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	R	154	ENSP00000355273:G154R;ENSP00000386942:G154R;ENSP00000387332:G154R	ENSP00000355273:G154R	G	-	1	0	ST6GAL2	106826406	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.227000	0.02950	-0.671000	0.05274	-1.134000	0.01955	GGG	C|0.893;T|0.107	0.107	strong		0.617	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107459974	C	T	107459974	3	4	27	1	0	0	0	0	1	0	0	0	15221	652	23	1	1236	1	ST6GAL2	2	107459974	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	10188884	107459974	135739399	53	21741										
IL1F10	84639	hgsc.bcm.edu	37	chr2	113831945	113831945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaggctctatacacaagagaTggccagctgctggtgggaga	14	8	1	2	rs3811058	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:113831945T>C	ENST00000393197.2	+	2	493	c.72T>C	c.(70-72)gaT>gaC	p.D24D	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Silent_p.D24D	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	24						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						ACACAAGAGATGGCCAGCTGC	0.547													T|||	885	0.176717	0.0477	0.1282	5008	,	,		21509	0.5179		0.0795	False		,,,				2504	0.1339				p.D24D		Atlas-SNP	.											.	IL1F10	19	.	0			c.T72C						PASS	.	T	,	248,4158	145.0+/-179.8	8,232,1963	112	99	104		72,72	-8.5	0	2	dbSNP_107	104	627,7973	163.0+/-215.7	21,585,3694	no	coding-synonymous,coding-synonymous	IL1F10	NM_032556.5,NM_173161.2	,	29,817,5657	CC,CT,TT		7.2907,5.6287,6.7277	,	24/153,24/153	113831945	875,12131	2203	4300	6503	SO:0001819	synonymous_variant	84639	exon3			AAGAGATGGCCAG	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.72T>C	2.37:g.113831945T>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	170	9	0.0529412	NM_173161	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Silent	SNP	ENST00000393197.2	37	CCDS2112.1																																																																																			T|0.891;C|0.109	0.109	strong		0.547	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		C	113831945	T	C	113831945	2	2	27	1	0	0	0	0	0	0	0	1	7652	1461	51	2		2	IL1F10	2	113831945	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6371971	113831945	129367428	54	21742										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114257354	114257354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatcccccgcgagccgggccAcccaggcaagggcacctact	12	18	0	0	rs202243377	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:114257354A>G	ENST00000306507.5	+	1	694	c.521A>G	c.(520-522)cAc>cGc	p.H174R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGCCGGGCCACCCAGGCAAG	0.632													.|||	294	0.0587061	0.0091	0.0908	5008	,	,		10222	0.1776		0.0139	False		,,,				2504	0.0266				p.H174R		Atlas-SNP	.											FOXD4L1,NS,carcinoma,0,1	FOXD4L1	48	1	0			c.A521G						scavenged	.						75	97	89					2																	114257354		2141	4139	6280	SO:0001583	missense	200350	exon1			CGGGCCACCCAGG	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.521A>G	2.37:g.114257354A>G	ENSP00000302756:p.His174Arg	Somatic	65	4	0.0615385		WXS	Illumina HiSeq	Phase_I	76	12	0.157895	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536728	0.27475	.	.	ENSG00000184492	ENST00000306507	D	0.95069	-3.6	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.35739	U	0.003002	T	0.78426	0.4281	N	0.00471	-1.455	0.41757	D	0.989692	B	0.14012	0.009	B	0.15052	0.012	T	0.71768	-0.4493	10	0.24483	T	0.36	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	174	Q9NU39	FX4L1_HUMAN	R	174	ENSP00000302756:H174R	ENSP00000302756:H174R	H	+	2	0	FOXD4L1	113973824	0.878000	0.30173	1.000000	0.80357	0.878000	0.50629	5.717000	0.68446	1.190000	0.43042	0.155000	0.16302	CAC	A|0.999;G|0.001	0.001	weak		0.632	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		G	114257354	A	G	114257354	3	3	27	1	0	0	0	0	1	0	0	0	6000	159	6	2	523	2	FOXD4L1	2	114257354	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	425409	114257354	128942019	55	21743										
TUBA3E	112714	hgsc.bcm.edu	37	chr2	130951949	130951949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctgtaatccactgagagccGctccatgagcagagatgcga	12	11	0	3	rs62165074	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:130951949G>A	ENST00000312988.7	-	4	566	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	156					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTGAGAGCCGCTCCATGAGC	0.577																																					p.R156W		Atlas-SNP	.											TUBA3E,NS,carcinoma,+2,1	TUBA3E	73	1	0			c.C466T						scavenged	.	G	TRP/ARG	1567,2837	489.4+/-361.5	284,999,919	71	76	74		466	0.6	1	2	dbSNP_129	74	3350,5248	496.3+/-374.3	657,2036,1606	no	missense	TUBA3E	NM_207312.2	101	941,3035,2525	AA,AG,GG		38.9625,35.5813,37.8173	probably-damaging	156/451	130951949	4917,8085	2202	4299	6501	SO:0001583	missense	112714	exon4			AGAGCCGCTCCAT	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.466C>T	2.37:g.130951949G>A	ENSP00000318197:p.Arg156Trp	Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	327	12	0.0366972	NM_207312		Missense_Mutation	SNP	ENST00000312988.7	37	CCDS2158.1	874	0.4001831501831502	166	0.33739837398373984	163	0.45027624309392267	269	0.47027972027972026	276	0.3641160949868074	g	12.55	1.970279	0.34754	0.355813	0.389625	ENSG00000152086	ENST00000312988	T	0.71698	-0.59	2.71	0.549	0.17213	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.49916	U	0.000125	T	0.00012	0.0000	H	0.98487	4.245	0.23700	P	0.99707653	D	0.71674	0.998	P	0.62649	0.905	T	0.18116	-1.0347	9	0.87932	D	0	.	4.7171	0.12899	0.1389:0.0:0.649:0.212	rs62165074	156	Q6PEY2	TBA3E_HUMAN	W	156	ENSP00000318197:R156W	ENSP00000318197:R156W	R	-	1	2	TUBA3E	130668419	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.313000	0.33585	0.485000	0.27652	0.449000	0.29647	CGG	G|0.500;A|0.500	0.500	weak		0.577	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		A	130951949	G	A	130951949	3	1	27	1	0	0	0	0	1	0	0	0	16745	1086	38	1	894	1	TUBA3E	2	130951949	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	16694595	130951949	112247424	56	21744										
TUBA3D	113457	hgsc.bcm.edu	37	chr2	132237927	132237927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcgcaacctggacattgaaCgtcccacgtacaccaacctc	8	16	0	1	rs200147665	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:132237927C>A	ENST00000321253.6	+	4	768	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	221					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R221S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGACATTGAACGTCCCACGTA	0.542																																					p.R221S	Ovarian(137;2059 2432 35543 39401)	Atlas-SNP	.											TUBA3D,trunk,malignant_melanoma,0,1	TUBA3D	60	1	1	Substitution - Missense(1)	skin(1)	c.C661A						scavenged	.						62	76	71					2																	132237927		2203	4296	6499	SO:0001583	missense	113457	exon4			ATTGAACGTCCCA	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.661C>A	2.37:g.132237927C>A	ENSP00000326042:p.Arg221Ser	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	211	4	0.0189573	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	3.464	-0.109452	0.06924	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68903	-0.36	2.24	1.33	0.21861	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.44483	U	0.000448	T	0.58666	0.2138	L	0.47190	1.495	0.44036	D	0.996764	B	0.17465	0.022	B	0.32805	0.153	T	0.55049	-0.8201	10	0.87932	D	0	.	6.8167	0.23835	0.0:0.8406:0.0:0.1594	.	221	Q13748	TBA3C_HUMAN	S	221	ENSP00000326042:R221S	ENSP00000326042:R221S	R	+	1	0	TUBA3D	131954397	1.000000	0.71417	0.987000	0.45799	0.044000	0.14063	2.392000	0.44433	0.267000	0.21916	0.194000	0.17425	CGT	C|0.500;A|0.500	0.500	weak		0.542	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132237927	C	A	132237927	3	1	27	1	0	0	0	0	1	0	0	0	16744	536	19	4	675	4	TUBA3D	2	132237927	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1285978	132237927	110961446	57	21745										
NCKAP5	344148	hgsc.bcm.edu	37	chr2	133542014	133542014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttgatagatgcccatgggTgccgaagacctggaattact	11	8	0	3	rs12616282	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:133542014T>C	ENST00000409261.1	-	14	2743	c.2370A>G	c.(2368-2370)gcA>gcG	p.A790A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.A790A|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	790										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCCCATGGGTGCCGAAGACC	0.458													c|||	3548	0.708466	0.8328	0.67	5008	,	,		18099	0.8681		0.507	False		,,,				2504	0.6104				p.A790A		Atlas-SNP	.											.	NCKAP5	322	.	0			c.A2370G						PASS	.	C	,	3005,761		1211,583,89	133	134	134		2370,	-0.4	0	2	dbSNP_120	134	4348,3894		1139,2070,912	no	coding-synonymous,intron	NCKAP5	NM_207363.2,NM_207481.3	,	2350,2653,1001	CC,CT,TT		47.2458,20.2071,38.7658	,	790/1910,	133542014	7353,4655	1883	4121	6004	SO:0001819	synonymous_variant	344148	exon14			CATGGGTGCCGAA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2370A>G	2.37:g.133542014T>C		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	106	5	0.0471698	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																			T|0.335;C|0.665	0.665	strong		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133542014	T	C	133542014	2	2	27	1	0	0	0	0	0	0	0	1	10223	1683	59	2		2	NCKAP5	2	133542014	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1304087	133542014	109657359	58	21746										
NCKAP5	344148	hgsc.bcm.edu	37	chr2	133554288	133554288	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccagatgaaagatccaagagAcgtgagtgaagtttctaggt	12	6	1	6	rs1868076	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:133554288A>G	ENST00000409261.1	-	12	1195	c.822T>C	c.(820-822)cgT>cgC	p.R274R	NCKAP5_ENST00000405974.3_Silent_p.R274R|NCKAP5_ENST00000409213.1_Silent_p.R274R|NCKAP5_ENST00000317721.6_Silent_p.R274R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	274										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATCCAAGAGACGTGAGTGAA	0.408													G|||	3459	0.690695	0.7126	0.6729	5008	,	,		18207	0.8899		0.5398	False		,,,				2504	0.6237				p.R274R		Atlas-SNP	.											.	NCKAP5	322	.	0			c.T822C						PASS	.	G	,	2616,1088		925,766,161	63	60	61		822,822	0.1	0	2	dbSNP_92	61	4500,3706		1232,2036,835	no	coding-synonymous,coding-synonymous	NCKAP5	NM_207363.2,NM_207481.3	,	2157,2802,996	GG,GA,AA		45.1621,29.3737,40.2519	,	274/1910,274/591	133554288	7116,4794	1852	4103	5955	SO:0001819	synonymous_variant	344148	exon12			CAAGAGACGTGAG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.822T>C	2.37:g.133554288A>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	81	7	0.0864198	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																			A|0.307;G|0.693	0.693	strong		0.408	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		G	133554288	A	G	133554288	2	3	27	1	0	0	0	0	0	0	0	1	10223	262	10	2		2	NCKAP5	2	133554288	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	12274	133554288	109645085	59	21747										
NEB	4703	hgsc.bcm.edu	37	chr2	152515683	152515683	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccatgcttgtttgtagagatGctaggaaaaaaacagtgtaa	10	5	0	1	rs75807392	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:152515683G>A	ENST00000172853.10	-	47	6118	c.5971C>T	c.(5971-5973)Cat>Tat	p.H1991Y	NEB_ENST00000604864.1_Splice_Site_p.H1991Y|NEB_ENST00000427231.2_Splice_Site_p.H1991Y|NEB_ENST00000603639.1_Splice_Site_p.H1991Y|NEB_ENST00000409198.1_Splice_Site_p.H1991Y|NEB_ENST00000397345.3_Splice_Site_p.H1991Y			P20929	NEBU_HUMAN	nebulin	1991					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTAGAGATGCTAGGAAAAA	0.323													G|||	461	0.0920527	0.0083	0.0288	5008	,	,		15218	0.249		0.0696	False		,,,				2504	0.1115				p.H1991Y		Atlas-SNP	.											.	NEB	1697	.	0			c.C5971T						PASS	.	G	TYR/HIS,TYR/HIS,TYR/HIS	58,3602		1,56,1773	177	166	169		5971,5971,5971	4.4	1	2	dbSNP_131	169	442,7738		17,408,3665	yes	missense-near-splice,missense-near-splice,missense-near-splice	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	83,83,83	18,464,5438	AA,AG,GG		5.4034,1.5847,4.223	possibly-damaging,possibly-damaging,possibly-damaging	1991/8526,1991/8526,1991/6670	152515683	500,11340	1830	4090	5920	SO:0001630	splice_region_variant	4703	exon47			AGAGATGCTAGGA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5971-1C>T	2.37:g.152515683G>A		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	190	10	0.0526316	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		221	0.10119047619047619	6	0.012195121951219513	13	0.03591160220994475	148	0.25874125874125875	54	0.0712401055408971	G	1.939	-0.444046	0.04604	0.015847	0.054034	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.17	4.38	0.52667	.	0.353403	0.32640	N	0.005829	T	0.00012	0.0000	L	0.34521	1.04	0.09310	P	1.0	P	0.39535	0.677	B	0.43701	0.428	T	0.28038	-1.0056	9	0.21014	T	0.42	.	11.2178	0.48835	0.0669:0.0:0.8055:0.1275	.	1991	P20929	NEBU_HUMAN	Y	1991	ENSP00000386259:H1991Y;ENSP00000380505:H1991Y;ENSP00000416578:H1991Y;ENSP00000172853:H1991Y	ENSP00000172853:H1991Y	H	-	1	0	NEB	152223929	1.000000	0.71417	0.998000	0.56505	0.535000	0.34838	1.706000	0.37878	0.931000	0.37242	-0.126000	0.14955	CAT	G|0.913;A|0.087	0.087	strong		0.323	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation	A	152515683	G	A	152515683	5	1	27	1	0	0	0	0	0	0	1	0	10302	1333	46	2	20259	2	NEB	2	152515683	Splice_Site	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	18961395	152515683	90683690	60	21748										
NEB	4703	hgsc.bcm.edu	37	chr2	152527608	152527608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggcacacttgtgaacttgaCggtatctgggtgctgtcgat	13	8	1	2	rs34577613	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:152527608C>T	ENST00000172853.10	-	38	4582	c.4435G>A	c.(4435-4437)Gtc>Atc	p.V1479I	NEB_ENST00000604864.1_Missense_Mutation_p.V1479I|NEB_ENST00000427231.2_Missense_Mutation_p.V1479I|NEB_ENST00000603639.1_Missense_Mutation_p.V1479I|NEB_ENST00000409198.1_Missense_Mutation_p.V1479I|NEB_ENST00000397345.3_Missense_Mutation_p.V1479I			P20929	NEBU_HUMAN	nebulin	1479			V -> I (in dbSNP:rs34577613).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V1479I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGAACTTGACGGTATCTGGG	0.483													T|||	1679	0.335264	0.4546	0.1095	5008	,	,		21763	0.5754		0.1223	False		,,,				2504	0.3057				p.V1479I		Atlas-SNP	.											NEB,NS,carcinoma,0,1	NEB	1697	1	1	Substitution - Missense(1)	stomach(1)	c.G4435A						PASS	.	T	ILE/VAL,ILE/VAL,ILE/VAL	1503,2705		261,981,862	164	163	163		4435,4435,4435	4.2	1	2	dbSNP_126	163	920,7532		58,804,3364	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	319,1785,4226	TT,TC,CC		10.885,35.7177,19.139	benign,benign,benign	1479/8526,1479/8526,1479/6670	152527608	2423,10237	2104	4226	6330	SO:0001583	missense	4703	exon38			ACTTGACGGTATC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4435G>A	2.37:g.152527608C>T	ENSP00000172853:p.Val1479Ile	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	149	8	0.0536913	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		700	0.32051282051282054	243	0.49390243902439024	46	0.1270718232044199	322	0.5629370629370629	89	0.11741424802110818	T	5.418	0.262254	0.10239	0.357177	0.10885	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.5;3.53;3.53;3.54	5.42	4.25	0.50352	.	0.288297	0.32671	N	0.005787	T	0.00012	0.0000	N	0.00707	-1.245	0.09310	P	0.9999999999754821	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	9	0.10902	T	0.67	.	7.0714	0.25181	0.0:0.138:0.1258:0.7362	rs34577613;rs60727639	1479	P20929	NEBU_HUMAN	I	1479	ENSP00000386259:V1479I;ENSP00000380505:V1479I;ENSP00000416578:V1479I;ENSP00000172853:V1479I	ENSP00000172853:V1479I	V	-	1	0	NEB	152235854	0.007000	0.16637	1.000000	0.80357	0.802000	0.45316	0.019000	0.13444	0.997000	0.38969	-0.254000	0.11334	GTC	C|0.705;T|0.295	0.295	strong		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152527608	C	T	152527608	3	4	27	1	0	0	0	0	1	0	0	0	10302	536	19	1	21831	1	NEB	2	152527608	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11925	152527608	90671765	61	21749										
LY75	4065	hgsc.bcm.edu	37	chr2	160737621	160737621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagtaggaaacacagttgggCgtcttattgtagggaacatt	12	5	1	0	rs11675155	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:160737621C>T	ENST00000263636.4	-	8	1404	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	LY75-CD302_ENST00000505052.1_Silent_p.T459T|LY75-CD302_ENST00000504764.1_Silent_p.T459T|LY75_ENST00000553424.1_Silent_p.T459T|LY75_ENST00000554112.1_Silent_p.T459T	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	459	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T459T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACAGTTGGGCGTCTTATTGT	0.368													C|||	1097	0.21905	0.1218	0.3746	5008	,	,		19539	0.3224		0.165	False		,,,				2504	0.1892				p.T459T		Atlas-SNP	.											LY75,NS,carcinoma,0,1	LY75	151	1	1	Substitution - coding silent(1)	prostate(1)	c.G1377A						PASS	.	C	,,	598,3808	264.1+/-265.8	45,508,1650	171	154	160		1377,1377,1377	-0.8	1	2	dbSNP_120	160	1508,7092	285.8+/-297.4	120,1268,2912	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	165,1776,4562	TT,TC,CC		17.5349,13.5724,16.1925	,,	459/1874,459/1818,459/1723	160737621	2106,10900	2203	4300	6503	SO:0001819	synonymous_variant	4065	exon8			GTTGGGCGTCTTA	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1377G>A	2.37:g.160737621C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																			C|0.818;T|0.182	0.182	strong		0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160737621	C	T	160737621	2	4	27	1	0	0	0	0	0	0	0	1	9099	755	27	1		1	LY75	2	160737621	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8210013	160737621	82461752	62	21750										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168107491	168107491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caaagttatccaaaggggccAtcccatgtccagcagcaacc	8	14	0	0	rs3749004	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:168107491A>G	ENST00000409195.1	+	9	9678	c.9589A>G	c.(9589-9591)Atc>Gtc	p.I3197V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2975V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I3197V|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3022					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGGGGCCATCCCATGTCC	0.473													A|||	992	0.198083	0.326	0.1326	5008	,	,		18868	0.12		0.1233	False		,,,				2504	0.229				p.I3197V		Atlas-SNP	.											.	XIRP2	914	.	0			c.A9589G						PASS	.	A	,,,VAL/ILE,VAL/ILE	1086,2824		160,766,1029	81	84	83		,,,9589,8923	-4.1	0	2	dbSNP_107	83	924,7380		56,812,3284	yes	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,29,29	216,1578,4313	GG,GA,AA		11.1272,27.7749,16.4565	,,,benign,benign	,,,3197/3550,2975/3328	168107491	2010,10204	1955	4152	6107	SO:0001583	missense	129446	exon9			GGGGCCATCCCAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9589A>G	2.37:g.168107491A>G	ENSP00000386840:p.Ile3197Val	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	130	6	0.0461538	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	386	0.17673992673992675	172	0.34959349593495936	47	0.1298342541436464	72	0.1258741258741259	95	0.12532981530343007	A	0.111	-1.138744	0.01742	0.277749	0.111272	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02631	4.22;4.22;4.22	5.45	-4.1	0.03940	.	1.015070	0.07871	N	0.967851	T	0.00012	0.0000	N	0.25144	0.715	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.46345	-0.9198	9	0.19590	T	0.45	-0.4673	4.6634	0.12653	0.6565:0.0998:0.146:0.0977	rs3749004;rs52810850;rs58049014;rs3749004	3022;3022;2975	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3197;3197;2975;611	ENSP00000386840:I3197V;ENSP00000295237:I3197V;ENSP00000387255:I2975V	ENSP00000295237:I3197V	I	+	1	0	XIRP2	167815737	0.000000	0.05858	0.001000	0.08648	0.776000	0.43924	0.291000	0.18994	-0.431000	0.07307	0.377000	0.23210	ATC	A|0.817;G|0.183	0.183	strong		0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168107491	A	G	168107491	3	3	27	1	0	0	0	0	1	0	0	0	17427	217	8	2	9619	2	XIRP2	2	168107491	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7369870	168107491	75091882	63	21751										
NOSTRIN	115677	hgsc.bcm.edu	37	chr2	169681151	169681151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttttctaacagggcaaacCtggaaattagctatgccaaa	7	10	1	0	rs3732031	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:169681151C>T	ENST00000317647.7	+	3	350	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000444448.2_Silent_p.L41L|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000458381.2_Silent_p.L41L	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	41	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.L41L(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGGCAAACCTGGAAATTAG	0.473													C|||	535	0.106829	0.0446	0.0576	5008	,	,		21300	0.2788		0.0308	False		,,,				2504	0.1268				p.L41L		Atlas-SNP	.											NOSTRIN_ENST00000444448,NS,carcinoma,0,2	NOSTRIN	68	2	2	Substitution - coding silent(2)	prostate(2)	c.C121T						scavenged	.	C	,,,	140,3642		2,136,1753	82	77	79		121,121,,	3.2	1	2	dbSNP_107	79	273,7981		6,261,3860	no	coding-synonymous,coding-synonymous,intron,utr-5	NOSTRIN	NM_001039724.3,NM_001171631.1,NM_001171632.1,NM_052946.3	,,,	8,397,5613	TT,TC,CC		3.3075,3.7017,3.4314	,,,	41/507,41/564,,	169681151	413,11623	1891	4127	6018	SO:0001819	synonymous_variant	115677	exon3			GCAAACCTGGAAA	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.121C>T	2.37:g.169681151C>T		Somatic	584	1	0.00171233		WXS	Illumina HiSeq	Phase_I	548	6	0.0109489	NM_001039724	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	ENST00000317647.7	37	CCDS42771.1																																																																																			C|0.900;T|0.100	0.100	strong		0.473	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		T	169681151	C	T	169681151	2	4	27	1	0	0	0	0	0	0	0	1	10546	680	24	2		2	NOSTRIN	2	169681151	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1573660	169681151	73518222	64	21752										
SP3	6670	hgsc.bcm.edu	37	chr2	174820750	174820750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atattgaacactggacactgTaccatttgatgaatctgatc	7	8	1	4	rs1047640	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:174820750T>C	ENST00000310015.6	-	4	1020	c.490A>G	c.(490-492)Aca>Gca	p.T164A	SP3_ENST00000418194.2_Missense_Mutation_p.T96A|SP3_ENST00000455789.2_Missense_Mutation_p.T111A|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	164	Transactivation domain (Gln-rich).		T -> A (in dbSNP:rs1047640). {ECO:0000269|PubMed:12297010, ECO:0000269|PubMed:1454515, ECO:0000269|PubMed:15474306}.		B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.T164A(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGGACACTGTACCATTTGAT	0.428													T|||	645	0.128794	0.0061	0.0922	5008	,	,		20313	0.3413		0.1183	False		,,,				2504	0.1125				p.T164A		Atlas-SNP	.											SP3,NS,carcinoma,0,1	SP3	82	1	1	Substitution - Missense(1)	stomach(1)	c.A490G						PASS	.	T	ALA/THR,ALA/THR,ALA/THR	115,4291	89.2+/-127.9	0,115,2088	228	216	220		286,481,490	5.9	1	2	dbSNP_86	220	1029,7571	219.4+/-257.5	73,883,3344	yes	missense,missense,missense	SP3	NM_001017371.4,NM_001172712.1,NM_003111.4	58,58,58	73,998,5432	CC,CT,TT		11.9651,2.6101,8.7959	possibly-damaging,possibly-damaging,possibly-damaging	96/714,161/779,164/782	174820750	1144,11862	2203	4300	6503	SO:0001583	missense	6670	exon4			ACACTGTACCATT	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.490A>G	2.37:g.174820750T>C	ENSP00000310301:p.Thr164Ala	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	158	7	0.0443038	NM_003111	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	334	0.15293040293040294	4	0.008130081300813009	30	0.08287292817679558	201	0.3513986013986014	99	0.13060686015831136	T	9.922	1.212478	0.22289	0.026101	0.119651	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.04454	3.62;3.64;3.65	5.95	5.95	0.96441	.	0.097447	0.64402	D	0.000001	T	0.00012	0.0000	L	0.36672	1.1	0.26350	P	0.9772296	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.45644	-0.9247	9	0.02654	T	1	.	16.4069	0.83677	0.0:0.0:0.0:1.0	rs1047640;rs3187647;rs3820899;rs16862215;rs52792192;rs59518808;rs1047640	164;111	Q02447;Q02447-6	SP3_HUMAN;.	A	164;111;96	ENSP00000310301:T164A;ENSP00000388903:T111A;ENSP00000406140:T96A	ENSP00000310301:T164A	T	-	1	0	SP3	174528996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.075000	0.50073	2.272000	0.75746	0.460000	0.39030	ACA	T|0.878;C|0.122	0.122	strong		0.428	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		C	174820750	T	C	174820750	3	2	27	1	0	0	0	0	1	0	0	0	14965	1638	57	2	1871	2	SP3	2	174820750	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	5139599	174820750	68378623	65	21753										
PLEKHA3	65977	hgsc.bcm.edu	37	chr2	179358665	179358665	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttaatgcagcaagttcatacAatacaggaatttgttcacca	6	8	2	0	rs2303536	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179358665A>G	ENST00000234453.5	+	4	801	c.399A>G	c.(397-399)acA>acG	p.T133T	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	133						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGTTCATACAATACAGGAAT	0.403													G|||	1527	0.304912	0.2095	0.1945	5008	,	,		20258	0.63		0.1551	False		,,,				2504	0.3313				p.T133T		Atlas-SNP	.											PLEKHA3,NS,carcinoma,+1,1	PLEKHA3	25	1	0			c.A399G						scavenged	.	G		883,3523	741.1+/-411.2	90,703,1410	126	118	120		399	-11.7	0.4	2	dbSNP_100	120	1271,7329	760.0+/-407.6	99,1073,3128	no	coding-synonymous	PLEKHA3	NM_019091.3		189,1776,4538	GG,GA,AA		14.7791,20.0409,16.5616		133/301	179358665	2154,10852	2203	4300	6503	SO:0001819	synonymous_variant	65977	exon4			TCATACAATACAG	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.399A>G	2.37:g.179358665A>G		Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_019091	Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	CCDS33336.1																																																																																			A|1.000;|0.000	.	weak		0.403	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		G	179358665	A	G	179358665	2	3	27	1	0	0	0	0	0	0	0	1	12057	117	5	2		2	PLEKHA3	2	179358665	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	4537915	179358665	63840708	66	21754										
TTN	7273	hgsc.bcm.edu	37	chr2	179427536	179427536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtctttcttcacttctcttaTggtcaaattcacaggggcac	7	11	6	0	rs3829746	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179427536T>C	ENST00000591111.1	-	276	78624	c.78400A>G	c.(78400-78402)Ata>Gta	p.I26134V	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I18710V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I27775V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25207V|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18835V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I18902V|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26134	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> V. {ECO:0000269|PubMed:17344846}.		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)			ACTTCTCTTATGGTCAAATTC	0.408													C|||	2546	0.508387	0.5658	0.4078	5008	,	,		21726	0.7153		0.2535	False		,,,				2504	0.5511				p.I27775V		Atlas-SNP	.											.	TTN	18412	.	0			c.A83323G						PASS	.	C	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	2013,1773		546,921,426	64	58	60		56704,56503,75619,56128	5.2	1	2	dbSNP_107	60	1841,6417		193,1455,2481	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	739,2376,2907	CC,CT,TT		22.2935,46.8304,31.9993	benign,benign,benign,benign	18902/27119,18835/27052,25207/33424,18710/26927	179427536	3854,8190	1893	4129	6022	SO:0001583	missense	7273	exon326			CTCTTATGGTCAA	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.78400A>G	2.37:g.179427536T>C	ENSP00000465570:p.Ile26134Val	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	119	6	0.0504202	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	37		980	0.44871794871794873	281	0.5711382113821138	129	0.356353591160221	385	0.6730769230769231	185	0.24406332453825857	C	9.433	1.086053	0.20390	0.531696	0.222935	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	6.04	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.02275	-0.615	0.39703	P	0.028781999999999974	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.37314	-0.9711	8	0.87932	D	0	.	9.6301	0.39774	0.0:0.6833:0.0:0.3167	rs3829746;rs11565883;rs56750589;rs3829746	18710;18835;18902;26134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	25207;18710;18902;18835;18708	ENSP00000343764:I25207V;ENSP00000434586:I18710V;ENSP00000340554:I18902V;ENSP00000352154:I18835V	ENSP00000340554:I18902V	I	-	1	0	TTN	179135782	0.155000	0.22806	0.994000	0.49952	0.900000	0.52787	0.683000	0.25349	0.883000	0.36040	-0.215000	0.12644	ATA	T|0.555;C|0.445	0.445	strong		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179427536	T	C	179427536	3	2	27	1	0	0	0	0	1	0	0	0	16732	1464	51	2	24804	2	TTN	2	179427536	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	68871	179427536	63771837	67	21755										
TTN	7273	hgsc.bcm.edu	37	chr2	179444939	179444939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttccttaacagtcacattgaCaggtggcccaggagtatctg	10	10	2	1	rs2303838	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179444939C>T	ENST00000591111.1	-	268	62376	c.62152G>A	c.(62152-62154)Gtc>Atc	p.V20718I	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13294I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V22359I|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19791I|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V13419I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V13486I|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20718	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> I. {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:7569978}.		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)			GTCACATTGACAGGTGGCCCA	0.348													C|||	1759	0.351238	0.3434	0.2147	5008	,	,		20260	0.631		0.1849	False		,,,				2504	0.3415				p.V22359I		Atlas-SNP	.											.	TTN	18412	.	0			c.G67075A						PASS	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1207,2467		202,803,832	62	60	61		40456,40255,59371,39880	2.6	0.9	2	dbSNP_100	61	1445,6723		128,1189,2767	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	330,1992,3599	TT,TC,CC		17.691,32.8525,22.3949	benign,benign,benign,benign	13486/27119,13419/27052,19791/33424,13294/26927	179444939	2652,9190	1837	4084	5921	SO:0001583	missense	7273	exon318			CATTGACAGGTGG	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.62152G>A	2.37:g.179444939C>T	ENSP00000465570:p.Val20718Ile	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	199	9	0.0452261	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	37		710	0.3250915750915751	157	0.31910569105691056	73	0.20165745856353592	344	0.6013986013986014	136	0.17941952506596306	C	9.291	1.050609	0.19827	0.328525	0.17691	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.41	2.61	0.31194	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.54965	1.715	0.27033	P	0.9641858	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.39396	-0.9616	8	0.87932	D	0	.	6.7606	0.23538	0.0:0.6119:0.1229:0.2652	rs2303838;rs52803332;rs59721271;rs2303838	13294;13419;13486;20718	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19791;13294;13486;13419;13292	ENSP00000343764:V19791I;ENSP00000434586:V13294I;ENSP00000340554:V13486I;ENSP00000352154:V13419I	ENSP00000340554:V13486I	V	-	1	0	TTN	179153185	0.001000	0.12720	0.932000	0.37286	0.972000	0.66771	-0.020000	0.12525	0.261000	0.21753	-0.253000	0.11424	GTC	C|0.677;T|0.323	0.323	strong		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179444939	C	T	179444939	3	4	27	1	0	0	0	0	1	0	0	0	16732	478	17	2	41084	2	TTN	2	179444939	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	17403	179444939	63754434	68	21756										
TTN	7273	hgsc.bcm.edu	37	chr2	179454394	179454394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcaggcctccgccactttagAtagacaaatgtctttccttt	6	12	2	2	rs1560221	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179454394A>G	ENST00000591111.1	-	254	57359	c.57135T>C	c.(57133-57135)taT>taC	p.Y19045Y	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11621Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.Y20686Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18118Y|TTN_ENST00000359218.5_Silent_p.Y11746Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11813Y|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19045	Fibronectin type-III 38. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCACTTTAGATAGACAAATG	0.448													G|||	2566	0.51238	0.5681	0.4092	5008	,	,		22023	0.7232		0.2545	False		,,,				2504	0.5583				p.Y20686Y		Atlas-SNP	.											.	TTN	18412	.	0			c.T62058C						PASS	.	G	,,,	2027,1825		546,935,445	194	187	189		34863,54354,35238,35439	3.9	1	2	dbSNP_88	189	1858,6404		196,1466,2469	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	742,2401,2914	GG,GA,AA		22.4885,47.378,32.0703	,,,	11621/26927,18118/33424,11746/27052,11813/27119	179454394	3885,8229	1926	4131	6057	SO:0001819	synonymous_variant	7273	exon304			CTTTAGATAGACA	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.57135T>C	2.37:g.179454394A>G		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	138	7	0.0507246	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				A|0.558;G|0.442	0.442	strong		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179454394	A	G	179454394	2	3	27	1	0	0	0	0	0	0	0	1	16732	340	12	2		2	TTN	2	179454394	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	9455	179454394	63744979	69	21757										
TTN	7273	hgsc.bcm.edu	37	chr2	179579822	179579822	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcaggatgtggatactggtTaggaagttctcagacattat	11	5	2	1	rs2562836	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179579822T>A	ENST00000591111.1	-	88	25364	c.25140A>T	c.(25138-25140)ctA>ctT	p.L8380L	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.L8697L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.L7453L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12554	Ig-like 66.				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)			GGATACTGGTTAGGAAGTTCT	0.463													A|||	2226	0.444489	0.4644	0.379	5008	,	,		20441	0.6577		0.2237	False		,,,				2504	0.4714				p.L8697L		Atlas-SNP	.											.	TTN	18412	.	0			c.A26091T						PASS	.	A	,,,	1560,2344		323,914,715	314	300	305		,22359,,	-4.7	0	2	dbSNP_100	305	1660,6618		160,1340,2639	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	483,2254,3354	AA,AT,TT		20.0532,39.959,26.4324	,,,	,7453/33424,,	179579822	3220,8962	1952	4139	6091	SO:0001819	synonymous_variant	7273	exon90			ACTGGTTAGGAAG	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.25140A>T	2.37:g.179579822T>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	115	9	0.0782609	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				T|0.630;N|0.001	.	strong		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179579822	T	A	179579822	2	1	27	1	0	0	0	0	0	0	0	1	16732	1741	61	5		5	TTN	2	179579822	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	125428	179579822	63619551	70	21758										
TTN	7273	hgsc.bcm.edu	37	chr2	179604859	179604859	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccctgtacctcctgcactttCtttattgccacgggctctct	6	16	2	0	rs367656813		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179604859C>A	ENST00000591111.1	-	46	12374	c.12150G>T	c.(12148-12150)aaG>aaT	p.K4050N	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4004N|TTN_ENST00000589042.1_Missense_Mutation_p.K4367N|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.K4129N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4196N			Q8WZ42	TITIN_HUMAN	titin	0					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)			CCTGCACTTTCTTTATTGCCA	0.443																																					p.K4367N		Atlas-SNP	.											.	TTN	18412	.	0			c.G13101T						PASS	.	C	ASN/LYS,,ASN/LYS,ASN/LYS	1,3693		0,1,1846	67	66	66		12012,,12387,12588	-3	0	2		66	0,8188		0,0,4094	no	missense,intron,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	94,,94,94	0,1,5940	AA,AC,CC		0.0,0.0271,0.0084	,,,	4004/26927,,4129/27052,4196/27119	179604859	1,11881	1847	4094	5941	SO:0001583	missense	7273	exon48			CACTTTCTTTATT	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.12150G>T	2.37:g.179604859C>A	ENSP00000465570:p.Lys4050Asn	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	109	29	0.266055	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	37		.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488428	0.04352	2.71E-4	0.0	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61859	0.14;0.08;0.07	5.92	-3.05	0.05396	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12116	-1.0560	9	0.87932	D	0	.	1.5845	0.02641	0.2937:0.3519:0.1844:0.17	.	4004;4129;4196	D3DPF9;E7EQE6;E7ET18	.;.;.	N	4004;4196;4129;4004	ENSP00000434586:K4004N;ENSP00000340554:K4196N;ENSP00000352154:K4129N	ENSP00000340554:K4196N	K	-	3	2	TTN	179313104	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.294000	0.19047	-1.056000	0.03205	-0.182000	0.12963	AAG	.	.	weak		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179604859	C	A	179604859	3	1	27	1	0	0	0	0	1	0	0	0	16732	912	32	4	91688	4	TTN	2	179604859	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	25037	179604859	63594514	71	21759										
TTN	7273	hgsc.bcm.edu	37	chr2	179640650	179640650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgggtaattctttcagcccTtttcaacttcacaacttctt	4	11	5	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:179640650T>C	ENST00000591111.1	-	28	6165	c.5941A>G	c.(5941-5943)Agg>Ggg	p.R1981G	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1935G|TTN_ENST00000589042.1_Missense_Mutation_p.R1981G|TTN_ENST00000360870.5_Missense_Mutation_p.R1981G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1981G|TTN_ENST00000359218.5_Missense_Mutation_p.R1935G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1935G			Q8WZ42	TITIN_HUMAN	titin	12802					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)			CTTTCAGCCCTTTTCAACTTC	0.423																																					p.R1981G		Atlas-SNP	.											TTN_ENST00000360870,NS,carcinoma,+2,6	TTN	18412	6	0			c.A5941G						scavenged	.						141	146	144					2																	179640650		2203	4300	6503	SO:0001583	missense	7273	exon28			CAGCCCTTTTCAA	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.5941A>G	2.37:g.179640650T>C	ENSP00000465570:p.Arg1981Gly	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	135	4	0.0296296	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	37		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572810	0.28092	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.16;0.15;0.14;0.29	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.59555	0.2202	N	0.19112	0.55	0.31118	N	0.709203	P;P;P;P;P	0.52316	0.651;0.651;0.651;0.651;0.952	B;B;B;B;P	0.51701	0.165;0.165;0.165;0.165;0.677	T	0.66085	-0.6011	9	0.87932	D	0	.	14.8848	0.70560	0.0:0.0:0.0:1.0	.	1935;1935;1935;1981;1981	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	1981;1935;1935;1935;1935;1981	ENSP00000343764:R1981G;ENSP00000434586:R1935G;ENSP00000340554:R1935G;ENSP00000352154:R1935G;ENSP00000354117:R1981G	ENSP00000340554:R1935G	R	-	1	2	TTN	179348895	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.163000	0.71880	1.932000	0.55993	0.496000	0.49642	AGG	.	.	none		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179640650	T	C	179640650	3	2	27	1	0	0	0	0	1	0	0	0	16732	1608	56	3	105387	3	TTN	2	179640650	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	35791	179640650	63558723	72	21760										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186672897	186672897	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctgatacaataggctttttAatggtgaatgcaatttcgaa	8	5	1	2	rs4666690	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:186672897A>G	ENST00000424728.1	+	17	18864	c.18864A>G	c.(18862-18864)ttA>ttG	p.L6288L	FSIP2_ENST00000343098.5_Silent_p.L6377L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6288										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAGGCTTTTTAATGGTGAATG	0.323													A|||	1637	0.326877	0.2451	0.3559	5008	,	,		17961	0.4077		0.3658	False		,,,				2504	0.2935				p.L6377L		Atlas-SNP	.											FSIP2_ENST00000343098,caecum,carcinoma,+2,2	FSIP2	251	2	0			c.A19131G						scavenged	.	A		874,2742		97,680,1031	46	43	44		19131	3.3	1	2	dbSNP_111	44	2881,5255		502,1877,1689	no	coding-synonymous	FSIP2	NM_173651.2		599,2557,2720	GG,GA,AA		35.4105,24.1704,31.952		6377/6997	186672897	3755,7997	1808	4068	5876	SO:0001819	synonymous_variant	401024	exon17			CTTTTTAATGGTG	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18864A>G	2.37:g.186672897A>G		Somatic	433	0	0		WXS	Illumina HiSeq	Phase_I	415	10	0.0240964	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																				A|0.658;G|0.342	0.342	strong		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186672897	A	G	186672897	2	3	27	1	0	0	0	0	0	0	0	1	6075	359	13	2		2	FSIP2	2	186672897	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7032247	186672897	56526476	73	21761										
SATB2	23314	hgsc.bcm.edu	37	chr2	200173610	200173610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggaagcgacggatggtacagAggttttcccagagggtgcgg	18	7	0	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:200173610A>G	ENST00000417098.1	-	10	2429	c.1613T>C	c.(1612-1614)cTc>cCc	p.L538P	SATB2_ENST00000457245.1_Missense_Mutation_p.L538P|SATB2_ENST00000428695.1_Missense_Mutation_p.L420P|SATB2_ENST00000260926.5_Missense_Mutation_p.L538P|SATB2_ENST00000443023.1_Missense_Mutation_p.L479P	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	538					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATGGTACAGAGGTTTTCCCA	0.557																																					p.L538P	Colon(30;262 767 11040 24421 36230)	Atlas-SNP	.											.	SATB2	134	.	0			c.T1613C						PASS	.						132	106	115					2																	200173610		2203	4300	6503	SO:0001583	missense	23314	exon11			GTACAGAGGTTTT	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1613T>C	2.37:g.200173610A>G	ENSP00000401112:p.Leu538Pro	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	119	47	0.394958	NM_015265	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838366	0.91117	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.61980	0.18;0.19;0.18;0.06;0.18	5.21	5.21	0.72293	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.80879	-0.1185	10	0.87932	D	0	-15.8414	15.5441	0.76081	1.0:0.0:0.0:0.0	.	420;538	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	P	538;479;538;420;538	ENSP00000401112:L538P;ENSP00000388764:L479P;ENSP00000260926:L538P;ENSP00000388581:L420P;ENSP00000405420:L538P	ENSP00000260926:L538P	L	-	2	0	SATB2	199881855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.317000	0.78254	0.459000	0.35465	CTC	.	.	none		0.557	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		G	200173610	A	G	200173610	3	3	27	1	0	0	0	0	1	0	0	0	13854	304	11	3	596	3	SATB2	2	200173610	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	13500713	200173610	43025763	74	21762										
ALS2CR8	79800	hgsc.bcm.edu	37	chr2	203846817	203846817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttgcagttacaaccaaggtAcacctctcctgatgaatcac	6	12	2	2	rs72932557	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:203846817A>T	ENST00000402905.3	+	15	2033	c.1712A>T	c.(1711-1713)tAc>tTc	p.Y571F	CARF_ENST00000545253.1_Missense_Mutation_p.Y483F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.Y495F|CARF_ENST00000545262.1_Missense_Mutation_p.Y495F|CARF_ENST00000438828.2_Missense_Mutation_p.Y571F|CARF_ENST00000414439.1_Missense_Mutation_p.Y469F|CARF_ENST00000320443.8_Missense_Mutation_p.Y571F	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	571					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAACCAAGGTACACCTCTCCT	0.373													T|||	236	0.0471246	0.0174	0.0749	5008	,	,		18007	0.0159		0.1302	False		,,,				2504	0.0143				p.Y571F		Atlas-SNP	.											ALS2CR8,rectum,carcinoma,-1,1	ALS2CR8	56	1	0			c.A1712T						PASS	.	T	PHE/TYR,PHE/TYR	130,3558		2,126,1716	59	55	56		1712,1712	4.3	0.3	2	dbSNP_130	56	1055,7155		68,919,3118	yes	missense,missense	ALS2CR8	NM_001104586.1,NM_024744.14	22,22	70,1045,4834	TT,TA,AA		12.8502,3.5249,9.9597	benign,benign	571/726,571/726	203846817	1185,10713	1844	4105	5949	SO:0001583	missense	79800	exon16			CAAGGTACACCTC	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1712A>T	2.37:g.203846817A>T	ENSP00000384006:p.Tyr571Phe	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_024744	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	160	0.07326007326007326	9	0.018292682926829267	34	0.09392265193370165	13	0.022727272727272728	104	0.13720316622691292	T	3.052	-0.195095	0.06259	0.035249	0.128502	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.45	4.26	0.50523	.	0.229295	0.37715	N	0.001971	T	0.00073	0.0002	N	0.00237	-1.79	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24012	-1.0172	8	0.02654	T	1	0.0747	8.9639	0.35865	0.297:0.0:0.0:0.703	.	483;495;571	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	F	571;469;495;483;495;571;571	.	ENSP00000316224:Y571F	Y	+	2	0	ALS2CR8	203555062	0.839000	0.29477	0.278000	0.24718	0.867000	0.49689	0.917000	0.28665	0.341000	0.23771	-0.257000	0.10917	TAC	A|0.910;T|0.090	0.090	strong		0.373	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		T	203846817	A	T	203846817	3	4	27	1	0	0	0	0	1	0	0	0	555	391	14	5	1762	5	ALS2CR8	2	203846817	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3673207	203846817	39352556	75	21763										
ADAM23	8745	hgsc.bcm.edu	37	chr2	207425911	207425911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttggaggtgtctgttctcGcacaagaggagttggtgtga	15	6	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:207425911G>A	ENST00000264377.3	+	12	1557	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	410	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R410H(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCTGTTCTCGCACAAGAGGA	0.413																																					p.R410H	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											ADAM23_ENST00000374416,NS,carcinoma,0,2	ADAM23	239	2	2	Substitution - Missense(2)	prostate(2)	c.G1229A						PASS	.						155	160	158					2																	207425911		2203	4300	6503	SO:0001583	missense	8745	exon12			GTTCTCGCACAAG	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1229G>A	2.37:g.207425911G>A	ENSP00000264377:p.Arg410His	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	139	6	0.0431655	NM_003812	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409037	0.42715	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09630	2.96;2.96;2.96	5.92	3.8	0.43715	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.382911	0.21835	N	0.068402	T	0.06096	0.0158	N	0.17082	0.46	0.29434	N	0.859679	B	0.02656	0.0	B	0.04013	0.001	T	0.14420	-1.0473	10	0.34782	T	0.22	.	6.0539	0.19800	0.1747:0.0:0.6327:0.1926	.	410	O75077	ADA23_HUMAN	H	410;410;304;410	ENSP00000264377:R410H;ENSP00000363537:R410H;ENSP00000363536:R410H	ENSP00000264377:R410H	R	+	2	0	ADAM23	207134156	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.937000	0.28951	1.498000	0.48600	0.655000	0.94253	CGC	.	.	none		0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		A	207425911	G	A	207425911	3	1	27	1	0	0	0	0	1	0	0	0	245	1087	38	1	1275	1	ADAM23	2	207425911	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3579094	207425911	35773462	76	21764										
CPS1	1373	hgsc.bcm.edu	37	chr2	211540507	211540507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgccaacaatgtccctgccaCcccagtggcatggccgtctc	9	18	1	0	rs1047891	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:211540507C>A	ENST00000233072.5	+	36	4413	c.4217C>A	c.(4216-4218)aCc>aAc	p.T1406N	CPS1_ENST00000451903.2_Missense_Mutation_p.T955N|CPS1_ENST00000430249.2_Missense_Mutation_p.T1412N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1406			T -> N (associated with PHN susceptibility; 30-40% higher activity; also highly associated with hepatocellular carcinoma (HCC) progression; dbSNP:rs1047891). {ECO:0000269|PubMed:11407344, ECO:0000269|PubMed:12853138, ECO:0000269|PubMed:12955727, ECO:0000269|PubMed:1840546, ECO:0000269|PubMed:20520828, ECO:0000269|PubMed:21767969, ECO:0000269|PubMed:24237036}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTCCCTGCCACCCCAGTGGCA	0.443													C|||	1445	0.288538	0.3684	0.3429	5008	,	,		16610	0.1389		0.3012	False		,,,				2504	0.2832				p.T1412N		Atlas-SNP	.											.	CPS1	485	.	0			c.C4235A						PASS	.	C	ASN/THR,ASN/THR,ASN/THR	1605,2801	497.2+/-363.8	305,995,903	68	68	68	http://www.ncbi.nlm.nih.gov/pubmed?term	4235,2864,4217	5.2	1	2	dbSNP_86	68	2676,5924	428.0+/-355.8	422,1832,2046	yes	missense,missense,missense	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	65,65,65	727,2827,2949	AA,AC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	31.1163,36.4276,32.9156	benign,benign,benign	1412/1507,955/1050,1406/1501	211540507	4281,8725	2203	4300	6503	SO:0001583	missense	1373	exon37			CTGCCACCCCAGT	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4217C>A	2.37:g.211540507C>A	ENSP00000233072:p.Thr1406Asn	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	191	8	0.0418848	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	586	0.2683150183150183	154	0.3130081300813008	122	0.3370165745856354	81	0.14160839160839161	229	0.3021108179419525	C	14.03	2.413514	0.42817	0.364276	0.311163	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.82984	-1.67;-1.67;-1.67	6.08	5.2	0.72013	Methylglyoxal synthase-like domain (4);	0.301714	0.35124	N	0.003423	T	0.00012	0.0000	L	0.48877	1.53	0.37459	P	0.08485100000000001	B;B	0.14012	0.009;0.009	B;B	0.19391	0.025;0.025	T	0.08371	-1.0725	9	0.32370	T	0.25	-11.1012	9.5512	0.39310	0.1496:0.7771:0.0:0.0732	rs1047891;rs2229587;rs3187890;rs7422339;rs52831019;rs7422339	1416;1406	Q59HF8;P31327	.;CPSM_HUMAN	N	1412;1414;1406;955	ENSP00000402608:T1412N;ENSP00000233072:T1406N;ENSP00000406136:T955N	ENSP00000233072:T1406N	T	+	2	0	CPS1	211248752	0.977000	0.34250	1.000000	0.80357	0.981000	0.71138	1.756000	0.38390	1.580000	0.49851	0.591000	0.81541	ACC	C|0.699;A|0.301	0.301	strong		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211540507	C	A	211540507	3	1	27	1	0	0	0	0	1	0	0	0	3823	507	18	4	4381	4	CPS1	2	211540507	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4114596	211540507	31658866	77	21765										
GIGYF2	26058	hgsc.bcm.edu	37	chr2	233659553	233659553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcctgttcccaatcctagtCctactctccggccagttgaa	6	16	1	1	rs2289912	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:233659553C>A	ENST00000409547.1	+	15	1689	c.1378C>A	c.(1378-1380)Cct>Act	p.P460T	GIGYF2_ENST00000409196.3_Missense_Mutation_p.P454T|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P481T|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P291T|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P460T|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P482T|GIGYF2_ENST00000373566.3_Missense_Mutation_p.P482T	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	460	Pro-rich.		P -> T (in dbSNP:rs2289912). {ECO:0000269|PubMed:18358451}.		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.P460T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAATCCTAGTCCTACTCTCCG	0.502													C|||	416	0.0830671	0.0113	0.0634	5008	,	,		18798	0.2302		0.0318	False		,,,				2504	0.0951				p.P481T		Atlas-SNP	.											GIGYF2,NS,carcinoma,0,1	GIGYF2	288	1	1	Substitution - Missense(1)	stomach(1)	c.C1441A						PASS	.	C	THR/PRO,THR/PRO,THR/PRO,THR/PRO	33,4373	37.6+/-69.7	0,33,2170	259	260	260		1378,1360,1441,1378	3	1	2	dbSNP_100	260	170,8430	79.2+/-141.9	3,164,4133	yes	missense,missense,missense,missense	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	38,38,38,38	3,197,6303	AA,AC,CC		1.9767,0.749,1.5608	benign,benign,benign,benign	460/1300,454/1294,481/1321,460/1300	233659553	203,12803	2203	4300	6503	SO:0001583	missense	26058	exon15			CCTAGTCCTACTC	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1378C>A	2.37:g.233659553C>A	ENSP00000386537:p.Pro460Thr	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	132	8	0.0606061	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	196	0.08974358974358974	10	0.02032520325203252	20	0.055248618784530384	142	0.24825174825174826	24	0.0316622691292876	C	11.37	1.618104	0.28801	0.00749	0.019767	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74632	-0.7;-0.7;-0.7;-0.7;-0.86;-0.69;-0.7;-0.83;-0.55	4.83	2.97	0.34412	.	0.333020	0.31897	N	0.006890	T	0.00039	0.0001	L	0.48362	1.52	0.28878	P	0.894564	P;P;B;P	0.41597	0.519;0.756;0.012;0.664	B;B;B;B	0.39339	0.269;0.297;0.023;0.164	T	0.09271	-1.0682	9	0.14252	T	0.57	-4.2104	5.0707	0.14606	0.0:0.5982:0.154:0.2478	rs2289912;rs52825380;rs2289912	291;481;460;454	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	T	482;403;460;482;460;460;403;454;481;454;291	ENSP00000362667:P482T;ENSP00000362664:P460T;ENSP00000386765:P482T;ENSP00000386537:P460T;ENSP00000404195:P403T;ENSP00000387070:P454T;ENSP00000387170:P481T;ENSP00000410297:P454T;ENSP00000411505:P291T	ENSP00000362664:P460T	P	+	1	0	GIGYF2	233367797	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.594000	0.36697	0.524000	0.28502	0.563000	0.77884	CCT	C|0.950;A|0.050	0.050	strong		0.502	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233659553	C	A	233659553	3	1	27	1	0	0	0	0	1	0	0	0	6378	855	30	4	1490	4	GIGYF2	2	233659553	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	22119046	233659553	9539820	78	21766										
ATG16L1	55054	hgsc.bcm.edu	37	chr2	234183368	234183368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcccccaggacaatgtggatActcatcctggttctggtaaa	9	11	2	0	rs2241880	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:234183368A>G	ENST00000392017.4	+	9	1155	c.898A>G	c.(898-900)Act>Gct	p.T300A	ATG16L1_ENST00000392018.1_Missense_Mutation_p.T317A|ATG16L1_ENST00000347464.5_Missense_Mutation_p.T137A|ATG16L1_ENST00000373525.5_Missense_Mutation_p.T156A|ATG16L1_ENST00000498620.1_3'UTR|SCARNA5_ENST00000516201.1_RNA|ATG16L1_ENST00000392020.4_Missense_Mutation_p.T281A	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	300			T -> A (associated with susceptibility to IBD10; has no effect on the stability of the protein; enhances the cleavage and the degradation mediated by activated CASP3; results in reduced autophagy and defective clearance of intestinal pathogens; dbSNP:rs2241880). {ECO:0000269|PubMed:15620219}.		autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAATGTGGATACTCATCCTGG	0.473													A|||	1983	0.395966	0.3101	0.3213	5008	,	,		21225	0.3224		0.5368	False		,,,				2504	0.4959				p.T300A		Atlas-SNP	.											.	ATG16L1	83	.	0			c.A898G	GRCh37	CM070026	ATG16L1	M	rs2241880	PASS	.	A	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1428,2978	465.9+/-354.3	234,960,1009	181	149	160	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	646,550,841,898,409	-11.4	0	2	dbSNP_98	160	4506,4094	592.4+/-393.0	1198,2110,992	yes	missense,missense,missense,missense,missense	ATG16L1	NM_001190266.1,NM_001190267.1,NM_017974.3,NM_030803.6,NM_198890.2	58,58,58,58,58	1432,3070,2001	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	47.6047,32.4103,45.6251	benign,benign,benign,benign,benign	216/524,184/492,281/589,300/608,137/445	234183368	5934,7072	2203	4300	6503	SO:0001583	missense	55054	exon9			GTGGATACTCATC	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.898A>G	2.37:g.234183368A>G	ENSP00000375872:p.Thr300Ala	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	103	5	0.0485437	NM_030803	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	851	0.38965201465201466	123	0.25	136	0.3756906077348066	190	0.3321678321678322	402	0.5303430079155673	A	10.98	1.504884	0.26949	0.324103	0.523953	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000444735;ENST00000373525;ENST00000419681;ENST00000392020;ENST00000392018	T;T;T;T;T;T;T	0.48522	0.88;0.92;1.09;0.99;1.71;0.81;0.91	5.71	-11.4	0.00090	WD40 repeat-like-containing domain (1);	1.946940	0.02287	N	0.069914	T	0.00012	0.0000	N	0.04203	-0.255	0.47341	P	6.049999999999667E-4	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.0;0.001;0.005;0.0;0.001	T	0.27536	-1.0071	9	0.14252	T	0.57	.	12.6604	0.56811	0.1798:0.4806:0.3396:0.0	rs2241880;rs17607702;rs52836811;rs57853061;rs2241880	254;281;156;300;137	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	A	300;137;173;156;137;281;317	ENSP00000375872:T300A;ENSP00000318259:T137A;ENSP00000409215:T173A;ENSP00000362625:T156A;ENSP00000398773:T137A;ENSP00000375875:T281A;ENSP00000375873:T317A	ENSP00000318259:T137A	T	+	1	0	ATG16L1	233848107	0.000000	0.05858	0.001000	0.08648	0.985000	0.73830	-0.395000	0.07287	-1.999000	0.00967	0.528000	0.53228	ACT	G|0.422;N|0.000	0.422	strong		0.473	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		G	234183368	A	G	234183368	3	3	27	1	0	0	0	0	1	0	0	0	1091	391	14	2	932	2	ATG16L1	2	234183368	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	523815	234183368	9016005	79	21767										
SH3BP4	23677	hgsc.bcm.edu	37	chr2	235951819	235951819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagcgggtggcgtccgtcctAgaaaagctgaaggaggactg	17	8	0	2	rs3795962	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:235951819A>G	ENST00000409212.1	+	4	2913	c.2406A>G	c.(2404-2406)ctA>ctG	p.L802L	SH3BP4_ENST00000392011.2_Silent_p.L802L|SH3BP4_ENST00000344528.4_Silent_p.L802L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	802					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L802L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGTCCGTCCTAGAAAAGCTGA	0.587													G|||	3767	0.752196	0.9576	0.6499	5008	,	,		22177	0.9157		0.4612	False		,,,				2504	0.6779				p.L802L		Atlas-SNP	.											SH3BP4,NS,carcinoma,0,1	SH3BP4	109	1	1	Substitution - coding silent(1)	prostate(1)	c.A2406G						PASS	.	G		3881,525	224.3+/-240.5	1716,449,38	46	46	46		2406	2	1	2	dbSNP_107	46	3994,4606	566.4+/-388.7	926,2142,1232	no	coding-synonymous	SH3BP4	NM_014521.2		2642,2591,1270	GG,GA,AA		46.4419,11.9156,39.451		802/964	235951819	7875,5131	2203	4300	6503	SO:0001819	synonymous_variant	23677	exon4			CGTCCTAGAAAAG	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2406A>G	2.37:g.235951819A>G		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	176	10	0.0568182	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																			G|0.647;N|0.001	0.647	strong		0.587	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			G	235951819	A	G	235951819	2	3	27	1	0	0	0	0	0	0	0	1	14246	407	15	3		3	SH3BP4	2	235951819	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1768451	235951819	7247554	80	21768										
MLPH	79083	hgsc.bcm.edu	37	chr2	238443226	238443226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatctttgagctgaataagcAtatttcagctgtggaatgcc	10	7	2	2	rs2292884	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:238443226A>G	ENST00000264605.3	+	9	1334	c.1040A>G	c.(1039-1041)cAt>cGt	p.H347R	MLPH_ENST00000445024.2_Missense_Mutation_p.H347R|MLPH_ENST00000338530.4_Intron|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000468178.1_Intron|MLPH_ENST00000410032.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	347			H -> R (in dbSNP:rs2292884).		melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTGAATAAGCATATTTCAGCT	0.552													G|||	1860	0.371406	0.621	0.3098	5008	,	,		20283	0.2748		0.2097	False		,,,				2504	0.3436				p.H347R		Atlas-SNP	.											.	MLPH	41	.	0			c.A1040G						PASS	.	G	,ARG/HIS	2503,1903	545.1+/-376.7	712,1079,412	132	126	128	http://www.ncbi.nlm.nih.gov/pubmed?term	,1040	0	0	2	dbSNP_100	128	2189,6411	711.9+/-405.9	269,1651,2380	yes	intron,missense	MLPH	NM_001042467.1,NM_024101.5	,29	981,2730,2792	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	25.4535,43.1911,36.0757	,benign	,347/601	238443226	4692,8314	2203	4300	6503	SO:0001583	missense	79083	exon9			ATAAGCATATTTC	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1040A>G	2.37:g.238443226A>G	ENSP00000264605:p.His347Arg	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	120	7	0.0583333	NM_024101	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	CCDS2518.1	723	0.33104395604395603	305	0.6199186991869918	98	0.27071823204419887	159	0.27797202797202797	161	0.21240105540897097	G	0.005	-2.149150	0.00328	0.568089	0.254535	ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000437893	T;T;T	0.14144	3.1;3.01;2.53	3.99	0.0132	0.14094	.	0.873451	0.09484	N	0.795883	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43015	-0.9417	9	0.02654	T	1	-1.4822	8.7039	0.34343	0.4573:0.0:0.5427:0.0	rs2292884;rs11539362;rs60898014;rs2292884	8;347	Q53QV8;Q9BV36	.;MELPH_HUMAN	R	347;347;107	ENSP00000264605:H347R;ENSP00000414849:H347R;ENSP00000412438:H107R	ENSP00000264605:H347R	H	+	2	0	MLPH	238107965	0.000000	0.05858	0.000000	0.03702	0.557000	0.35523	0.241000	0.18065	-0.177000	0.10690	-0.119000	0.15052	CAT	A|0.644;G|0.356	0.356	strong		0.552	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		G	238443226	A	G	238443226	3	3	27	1	0	0	0	0	1	0	0	0	9633	217	8	2	1070	2	MLPH	2	238443226	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2491407	238443226	4756147	81	21769										
AQP12B	653437	hgsc.bcm.edu	37	chr2	241622187	241622187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagcagggccttggaggccCgcctggctgcctcacagagg	17	13	1	1	rs4081909	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:241622187C>T	ENST00000407834.3	-	1	130	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	23						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTTGGAGGCCCGCCTGGCTGC	0.672													N|||	1096	0.21885	0.2436	0.3501	5008	,	,		16445	0.2649		0.1064	False		,,,				2504	0.1605				p.R23Q		Atlas-SNP	.											.	AQP12B	33	.	0			c.G68A						PASS	.		GLN/ARG	902,3468		188,526,1471	38	45	43		68	1.3	0.2	2	dbSNP_108	43	904,7658		152,600,3529	no	missense	AQP12B	NM_001102467.1	43	340,1126,5000	TT,TC,CC		10.5583,20.6407,13.9654	probably-damaging	23/308	241622187	1806,11126	2185	4281	6466	SO:0001583	missense	653437	exon1			GAGGCCCGCCTGG	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.68G>A	2.37:g.241622187C>T	ENSP00000384894:p.Arg23Gln	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	151	14	0.0927152	NM_001102467	A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	405	0.18543956043956045	99	0.20121951219512196	93	0.2569060773480663	135	0.23601398601398602	78	0.10290237467018469	.	13.64	2.296236	0.40594	0.206407	0.105583	ENSG00000185176	ENST00000407834	T	0.11169	2.8	3.19	1.29	0.21616	.	0.556195	0.18450	N	0.140848	T	0.00012	0.0000	M	0.65498	2.005	0.50632	P	1.1899999999998023E-4	D	0.69078	0.997	P	0.54924	0.764	T	0.31558	-0.9939	8	.	.	.	0.0022	6.4343	0.21815	0.0:0.7311:0.0:0.2689	rs4081909	23	A6NM10-2	.	Q	23	ENSP00000384894:R23Q	.	R	-	2	0	AQP12B	241270860	0.000000	0.05858	0.173000	0.22940	0.190000	0.23558	-0.169000	0.09911	0.611000	0.30052	0.479000	0.44913	CGG	C|0.829;T|0.171	0.171	strong		0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			T	241622187	C	T	241622187	3	4	27	1	0	0	0	0	1	0	0	0	825	652	23	1	867	1	AQP12B	2	241622187	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3178961	241622187	1577186	82	21770										
PPP1R7	5510	hgsc.bcm.edu	37	chr2	242097275	242097275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcaacctggacagagatgcaGaggtaatgccgcctgctcag	12	11	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr2:242097275G>A	ENST00000234038.6	+	3	709	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PPP1R7_ENST00000272983.8_Missense_Mutation_p.E36K|PPP1R7_ENST00000407025.1_Missense_Mutation_p.E79K|PPP1R7_ENST00000402734.1_Missense_Mutation_p.E20K|PPP1R7_ENST00000404405.3_Missense_Mutation_p.E79K|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.E36K|PPP1R7_ENST00000406106.3_Missense_Mutation_p.E79K	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	79					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAGAGATGCAGAGGTAATGCC	0.468																																					p.E79K	NSCLC(62;446 1299 5417 11238 27640)	Atlas-SNP	.											.	PPP1R7	35	.	0			c.G235A						PASS	.						83	73	76					2																	242097275		2203	4300	6503	SO:0001583	missense	5510	exon3			GATGCAGAGGTAA	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.235G>A	2.37:g.242097275G>A	ENSP00000234038:p.Glu79Lys	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	98	36	0.367347	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164816	0.94727	.	.	ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987;ENST00000427172	T;T;T;T;T;T;T;T;T;T;T	0.47177	1.85;1.85;1.85;1.85;1.85;1.85;0.85;1.15;1.85;1.85;1.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.66506	2.035	0.80722	D	1	D;P;P;P;D;P	0.71674	0.996;0.947;0.902;0.893;0.998;0.956	P;P;B;P;D;P	0.80764	0.824;0.577;0.415;0.554;0.994;0.549	T	0.61917	-0.6964	10	0.27082	T	0.32	-26.0255	17.1348	0.86736	0.0:0.0:1.0:0.0	.	63;20;36;79;79;79	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.;.;.;PP1R7_HUMAN;.;.	K	63;20;20;79;36;79;79;79;79;36;88	ENSP00000396376:E63K;ENSP00000385012:E20K;ENSP00000412092:E20K;ENSP00000385657:E79K;ENSP00000272983:E36K;ENSP00000234038:E79K;ENSP00000385498:E79K;ENSP00000409719:E79K;ENSP00000385022:E79K;ENSP00000385466:E36K;ENSP00000397985:E88K	ENSP00000234038:E79K	E	+	1	0	PPP1R7	241745948	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.490000	0.84030	0.655000	0.94253	GAG	.	.	none		0.468	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		A	242097275	G	A	242097275	3	1	27	1	0	0	0	0	1	0	0	0	12376	943	33	2	245	2	PPP1R7	2	242097275	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	475088	242097275	1102098	83	21771										
CNTN6	27255	hgsc.bcm.edu	37	chr3	1414127	1414127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatgtcatagacttaaaaaAaggagtggctcattttgaaa	9	4	2	3	rs145045076	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:1414127A>G	ENST00000446702.2	+	13	2264	c.1637A>G	c.(1636-1638)aAa>aGa	p.K546R	CNTN6_ENST00000539053.1_Missense_Mutation_p.K474R|CNTN6_ENST00000350110.2_Missense_Mutation_p.K546R			Q9UQ52	CNTN6_HUMAN	contactin 6	546	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GACTTAAAAAAAGGAGTGGCT	0.373													A|||	17	0.00339457	0.0	0.0	5008	,	,		16370	0.0169		0.0	False		,,,				2504	0.0				p.K546R		Atlas-SNP	.											CNTN6,NS,lymphoid_neoplasm,0,1	CNTN6	245	1	0			c.A1637G						PASS	.						107	108	107					3																	1414127		2203	4300	6503	SO:0001583	missense	27255	exon13			TAAAAAAAGGAGT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1637A>G	3.37:g.1414127A>G	ENSP00000407822:p.Lys546Arg	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	13	0.005952380952380952	0	0.0	0	0.0	13	0.022727272727272728	0	0.0	A	13.60	2.286128	0.40394	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67345	-0.26;-0.26;-0.26	5.8	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327961	0.27245	N	0.020260	T	0.25121	0.0610	N	0.12471	0.22	0.27294	N	0.95778	B	0.13145	0.007	B	0.12156	0.007	T	0.04752	-1.0929	10	0.25106	T	0.35	.	3.1712	0.06552	0.635:0.0:0.1551:0.2099	.	546	Q9UQ52	CNTN6_HUMAN	R	546;474;546	ENSP00000407822:K546R;ENSP00000442791:K474R;ENSP00000341882:K546R	ENSP00000341882:K546R	K	+	2	0	CNTN6	1389127	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.410000	0.59774	2.206000	0.71126	0.528000	0.53228	AAA	A|0.994;G|0.006	0.006	strong		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		G	1414127	A	G	1414127	3	3	27	1	0	0	0	0	1	0	0	0	3645	14	1	2	1683	2	CNTN6	3	1414127	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10		1414127	196608303	84	21772										
DPH3	285381	hgsc.bcm.edu	37	chr3	16305674	16305674	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcccttactttgtcataaatCacttttataatgagagagca	5	8	2	2	rs14080	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:16305674C>G	ENST00000488423.1	-	2	266	c.171G>C	c.(169-171)gtG>gtC	p.V57V	OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000435829.2_5'Flank|OXNAD1_ENST00000605932.1_5'Flank|OXNAD1_ENST00000285083.5_5'Flank|DPH3_ENST00000383775.4_Intron|DPH3_ENST00000285082.4_5'UTR	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	57					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TGTCATAAATCACTTTTATAA	0.418													C|||	2172	0.433706	0.3079	0.4712	5008	,	,		17298	0.4762		0.4324	False		,,,				2504	0.5348				p.V57V		Atlas-SNP	.											DPH3,NS,adenoma,0,1	DPH3	7	1	0			c.G171C						scavenged	.	C	,	1546,2860	483.5+/-359.7	274,998,931	107	99	102		,171	3.8	1	3	dbSNP_52	102	3648,4952	520.9+/-379.8	782,2084,1434	no	intron,coding-synonymous	DPH3	NM_001047434.2,NM_206831.2	,	1056,3082,2365	GG,GC,CC		42.4186,35.0885,39.9354	,	,57/83	16305674	5194,7812	2203	4300	6503	SO:0001819	synonymous_variant	285381	exon2			ATAAATCACTTTT	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"DPH3A, KTI11 homolog A (S. cerevisiae)"	608959	"zinc finger, CSL-type containing 2", "DPH3 homolog (KTI11, S. cerevisiae)", "DPH3, KTI11 homolog (S. cerevisiae)"	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.171G>C	3.37:g.16305674C>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	171	5	0.0292398	NM_206831		Silent	SNP	ENST00000488423.1	37	CCDS2629.1																																																																																			C|0.590;G|0.410	0.410	strong		0.418	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		G	16305674	C	G	16305674	2	3	27	1	0	0	0	0	0	0	0	1	4721	813	29	4		4	DPH3	3	16305674	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	14891547	16305674	181716756	85	21773										
LRRC3B	116135	hgsc.bcm.edu	37	chr3	26751493	26751493	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatgagcatgccttcaaaggAgtagctgaaaccttgcagac	11	9	1	3	rs35497952	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:26751493A>T	ENST00000396641.2	+	2	922	c.330A>T	c.(328-330)ggA>ggT	p.G110G	LRRC3B_ENST00000456208.2_Silent_p.G110G|LRRC3B_ENST00000417744.1_Silent_p.G110G|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	110						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCTTCAAAGGAGTAGCTGAAA	0.438													A|||	739	0.147564	0.1036	0.1556	5008	,	,		21624	0.2421		0.0805	False		,,,				2504	0.1728				p.G110G		Atlas-SNP	.											.	LRRC3B	51	.	0			c.A330T						PASS	.	A		439,3967	212.5+/-232.4	20,399,1784	65	62	63		330	-4.1	0.9	3	dbSNP_126	63	764,7836	181.8+/-230.4	43,678,3579	no	coding-synonymous	LRRC3B	NM_052953.2		63,1077,5363	TT,TA,AA		8.8837,9.9637,9.2496		110/260	26751493	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	116135	exon2			CAAAGGAGTAGCT	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.330A>T	3.37:g.26751493A>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	116	8	0.0689655	NM_052953	Q5M8T0	Silent	SNP	ENST00000396641.2	37	CCDS2644.1																																																																																			A|0.898;T|0.102	0.102	strong		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		T	26751493	A	T	26751493	2	4	27	1	0	0	0	0	0	0	0	1	8996	291	11	5		5	LRRC3B	3	26751493	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	10445819	26751493	171270937	86	21774										
TGFBR2	7048	hgsc.bcm.edu	37	chr3	30713842	30713842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccaatatcctcgtgaagaaCgacctaacctgctgcctgtg	8	13	0	2	rs2228048	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:30713842C>T	ENST00000295754.5	+	4	1549	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	TGFBR2_ENST00000359013.4_Silent_p.N414N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	389	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCGTGAAGAACGACCTAACCT	0.557													C|||	518	0.103435	0.0431	0.0101	5008	,	,		21448	0.2986		0.0129	False		,,,				2504	0.1431				p.N414N		Atlas-SNP	.											.	TGFBR2	139	.	0			c.C1242T						PASS	.	C	,	143,4263	101.6+/-140.2	1,141,2061	305	268	281		1242,1167	-4.6	0.8	3	dbSNP_98	281	95,8505	52.7+/-113.3	0,95,4205	no	coding-synonymous,coding-synonymous	TGFBR2	NM_001024847.2,NM_003242.5	,	1,236,6266	TT,TC,CC		1.1047,3.2456,1.8299	,	414/593,389/568	30713842	238,12768	2203	4300	6503	SO:0001819	synonymous_variant	7048	exon5			GAAGAACGACCTA		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1167C>T	3.37:g.30713842C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	136	6	0.0441176	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	CCDS2648.1																																																																																			C|0.947;T|0.053	0.053	strong		0.557	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			T	30713842	C	T	30713842	2	4	27	1	0	0	0	0	0	0	0	1	15819	535	19	1		1	TGFBR2	3	30713842	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3962349	30713842	167308588	87	21775										
ZNF860	344787	hgsc.bcm.edu	37	chr3	32031622	32031622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtaaggtttgtgaaaaggctTtcaggcgtgattcacacctc	11	8	2	2	rs13087612	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:32031622T>C	ENST00000360311.4	+	2	1600	c.1051T>C	c.(1051-1053)Ttc>Ctc	p.F351L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	351					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)|lung(4)|ovary(1)	8						TGAAAAGGCTTTCAGGCGTGA	0.398													T|||	2329	0.465056	0.7799	0.3573	5008	,	,		21477	0.4524		0.1968	False		,,,				2504	0.4049				p.F351L		Atlas-SNP	.											ZNF860_ENST00000360311,NS,carcinoma,0,2	ZNF860	96	2	0			c.T1051C						scavenged	.	T	LEU/PHE	897,487		298,301,93	48	49	49		1051	0.3	0	3	dbSNP_121	49	608,2574		57,494,1040	yes	missense	ZNF860	NM_001137674.2	22	355,795,1133	CC,CT,TT		19.1075,35.1879,32.961	probably-damaging	351/633	32031622	1505,3061	692	1591	2283	SO:0001583	missense	344787	exon2			AAGGCTTTCAGGC	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1051T>C	3.37:g.32031622T>C	ENSP00000373274:p.Phe351Leu	Somatic	345	1	0.00289855		WXS	Illumina HiSeq	Phase_I	346	4	0.0115607	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	899	0.4116300366300366	373	0.758130081300813	125	0.3453038674033149	248	0.43356643356643354	153	0.20184696569920843	T	14.79	2.640073	0.47153	0.648121	0.191075	ENSG00000197385	ENST00000360311	T	0.46063	0.88	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.90977	3.165	0.58432	P	5.999999999950489E-6	D	0.63880	0.993	D	0.68192	0.956	T	0.39683	-0.9602	7	.	.	.	.	4.9959	0.14240	0.0:2.0E-4:0.0:0.9998	rs13087612;rs59979195;rs13087612	351	A6NHJ4	ZN860_HUMAN	L	351	ENSP00000373274:F351L	.	F	+	1	0	ZNF860	32006626	0.979000	0.34478	0.003000	0.11579	0.003000	0.03518	5.394000	0.66285	0.332000	0.23536	0.323000	0.21402	TTC	T|0.621;C|0.379	0.379	strong		0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			C	32031622	T	C	32031622	3	2	27	1	0	0	0	0	1	0	0	0	18191	1841	64	2	1053	2	ZNF860	3	32031622	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1317780	32031622	165990808	88	21776										
CLASP2	23122	hgsc.bcm.edu	37	chr3	33552202	33552202	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagcactttgatgcactgctCtggactaattgaagtggcca	10	9	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:33552202C>T	ENST00000468888.2	-	37	4235	c.4189G>A	c.(4189-4191)Gag>Aag	p.E1397K	CLASP2_ENST00000307312.7_Missense_Mutation_p.E878K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1388K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1156K|CLASP2_ENST00000399362.4_Missense_Mutation_p.E1396K|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1176K|CLASP2_ENST00000539981.1_3'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1177					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATGCACTGCTCTGGACTAATT	0.383																																					p.E1398K		Atlas-SNP	.											.	CLASP2	138	.	0			c.G4192A						PASS	.						97	84	88					3																	33552202		1950	4153	6103	SO:0001583	missense	23122	exon37			ACTGCTCTGGACT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4189G>A	3.37:g.33552202C>T	ENSP00000419974:p.Glu1397Lys	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	160	49	0.30625	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	C	29.9	5.044175	0.93685	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.08	6.08	0.98989	.	0.099158	0.64402	D	0.000002	T	0.72653	0.3487	M	0.71581	2.175	0.58432	D	0.999999	B;P	0.35050	0.449;0.482	B;B	0.42593	0.107;0.392	T	0.65865	-0.6064	10	0.15952	T	0.53	-20.1545	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1388;1396	F5H604;E7ERI8	.;.	K	1397;1396;1388;878;1176;1156	ENSP00000419974:E1397K;ENSP00000382297:E1396K;ENSP00000352581:E1388K;ENSP00000304743:E878K;ENSP00000417518:E1176K;ENSP00000419305:E1156K	ENSP00000304743:E878K	E	-	1	0	CLASP2	33527206	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.506000	0.81665	2.894000	0.99253	0.655000	0.94253	GAG	.	.	none		0.383	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33552202	C	T	33552202	3	4	27	1	0	0	0	0	1	0	0	0	3455	922	32	2	367	2	CLASP2	3	33552202	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1520580	33552202	164470228	89	21777										
C3orf35	339883	hgsc.bcm.edu	37	chr3	37476379	37476379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gggaggggactgactcaatcCcagctgctggcagatctggg	16	10	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:37476379C>T	ENST00000328376.5	+	6	1250	c.271C>T	c.(271-273)Cca>Tca	p.P91S	C3orf35_ENST00000481400.1_3'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	91						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						tgactcaatcccagctgctgg	0.458																																					p.P91S		Atlas-SNP	.											.	C3orf35	21	.	0			c.C271T						PASS	.						34	33	34					3																	37476379		1889	4110	5999	SO:0001583	missense	339883	exon6			TCAATCCCAGCTG	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"AP20 region protein", "APRG1 tumor suppressor candidate"	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.271C>T	3.37:g.37476379C>T	ENSP00000331625:p.Pro91Ser	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	248	88	0.354839	NM_178339	B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	c	4.256	0.046572	0.08243	.	.	ENSG00000198590	ENST00000328376	T	0.56611	0.45	0.565	-1.13	0.09775	.	.	.	.	.	T	0.26412	0.0645	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.12967	-1.0527	8	0.87932	D	0	.	.	.	.	.	91	Q8IVJ8	APRG1_HUMAN	S	91	ENSP00000331625:P91S	ENSP00000331625:P91S	P	+	1	0	C3orf35	37451383	0.027000	0.19231	0.004000	0.12327	0.004000	0.04260	-0.642000	0.05427	-0.979000	0.03529	-0.970000	0.02610	CCA	.	.	none		0.458	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		T	37476379	C	T	37476379	3	4	27	1	0	0	0	0	1	0	0	0	2225	623	22	2	411	2	C3orf35	3	37476379	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3924177	37476379	160546051	90	21778										
ZNF35	7584	hgsc.bcm.edu	37	chr3	44692564	44692564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgctgagcagagaagatgaCtgcagaattgagagaagcca	13	7	0	7	rs2272044	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:44692564C>G	ENST00000396056.2	+	2	240	c.5C>G	c.(4-6)aCt>aGt	p.T2S	ZNF35_ENST00000399560.2_Missense_Mutation_p.T2S|ZNF35_ENST00000296092.3_Missense_Mutation_p.T2S|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Missense_Mutation_p.T2S|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	2					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GAGAAGATGACTGCAGAATTG	0.522													.|||	1579	0.315296	0.0076	0.2983	5008	,	,		19180	0.7907		0.1402	False		,,,				2504	0.4335				p.T2S		Atlas-SNP	.											.	ZNF35	34	.	0			c.C5G						PASS	.	C	SER/THR	170,4236	111.6+/-149.8	4,162,2037	37	39	39		5	4.1	1	3	dbSNP_100	39	1221,7379	245.0+/-274.0	94,1033,3173	no	missense	ZNF35	NM_003420.3	58	98,1195,5210	GG,GC,CC		14.1977,3.8584,10.6951	benign	2/528	44692564	1391,11615	2203	4300	6503	SO:0001583	missense	7584	exon2			AGATGACTGCAGA	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.5C>G	3.37:g.44692564C>G	ENSP00000379368:p.Thr2Ser	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	197	10	0.0507614	NM_003420	B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	674	0.3086080586080586	4	0.008130081300813009	97	0.26795580110497236	462	0.8076923076923077	111	0.14643799472295516	C	18.92	3.725294	0.68959	0.038584	0.141977	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164	T	0.11385	2.78	4.08	4.08	0.47627	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.09310	P	1.0	P	0.42409	0.779	B	0.34873	0.191	T	0.00557	-1.1672	8	0.87932	D	0	-11.5335	12.0697	0.53609	0.0:1.0:0.0:0.0	rs2272044;rs57973918	2	P13682	ZNF35_HUMAN	S	2	ENSP00000379368:T2S	ENSP00000296092:T2S	T	+	2	0	ZNF35	44667568	0.992000	0.36948	0.990000	0.47175	0.973000	0.67179	0.427000	0.21379	2.298000	0.77334	0.558000	0.71614	ACT	C|0.756;G|0.244	0.244	strong		0.522	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		G	44692564	C	G	44692564	3	3	27	1	0	0	0	0	1	0	0	0	17859	565	20	4	7	4	ZNF35	3	44692564	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	7216185	44692564	153329866	91	21779										
ZNF502	91392	hgsc.bcm.edu	37	chr3	44762830	44762830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcatcccttacccaacatcAgagaactcatactggagaga	6	13	3	2	rs56084453	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:44762830A>G	ENST00000296091.4	+	4	777	c.521A>G	c.(520-522)cAg>cGg	p.Q174R	ZNF502_ENST00000449836.1_Missense_Mutation_p.Q174R|ZNF502_ENST00000436624.2_Missense_Mutation_p.Q174R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	174			Q -> R (in dbSNP:rs56084453).		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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACCCAACATCAGAGAACTCAT	0.408													A|||	531	0.10603	0.0129	0.1571	5008	,	,		21464	0.0446		0.2247	False		,,,				2504	0.137				p.Q174R		Atlas-SNP	.											ZNF502,NS,carcinoma,-1,1	ZNF502	58	1	0			c.A521G						PASS	.	A	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	190,4216	119.6+/-157.3	5,180,2018	126	137	133		521,521,521,521	4.7	1	3	dbSNP_129	133	1862,6738	329.3+/-318.7	195,1472,2633	yes	missense,missense,missense,missense	ZNF502	NM_001134440.1,NM_001134441.1,NM_001134442.1,NM_033210.4	43,43,43,43	200,1652,4651	GG,GA,AA		21.6512,4.3123,15.7773	benign,benign,benign,benign	174/545,174/545,174/545,174/545	44762830	2052,10954	2203	4300	6503	SO:0001583	missense	91392	exon4			AACATCAGAGAAC	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.521A>G	3.37:g.44762830A>G	ENSP00000296091:p.Gln174Arg	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	202	10	0.049505	NM_001134440		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	282	0.12912087912087913	10	0.02032520325203252	73	0.20165745856353592	29	0.050699300699300696	170	0.22427440633245382	A	15.35	2.807929	0.50421	0.043123	0.216512	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.16098	0.37	0.37027	P	0.103526	P	0.52463	0.953	P	0.47864	0.559	T	0.52305	-0.8593	8	0.54805	T	0.06	-5.6043	13.5531	0.61745	1.0:0.0:0.0:0.0	rs56084453;rs61740962	174	Q8TBZ5	ZN502_HUMAN	R	174	ENSP00000397390:Q174R;ENSP00000296091:Q174R;ENSP00000406469:Q174R	ENSP00000296091:Q174R	Q	+	2	0	ZNF502	44737834	0.049000	0.20398	0.972000	0.41901	0.997000	0.91878	0.860000	0.27871	2.109000	0.64355	0.533000	0.62120	CAG	A|0.848;G|0.152	0.152	strong		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		G	44762830	A	G	44762830	3	3	27	1	0	0	0	0	1	0	0	0	17947	188	7	3	527	3	ZNF502	3	44762830	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	70266	44762830	153259600	92	21780										
ZNF502	91392	hgsc.bcm.edu	37	chr3	44763037	44763037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaaaccttataaatgcaatgAatgtgggaattccttccgca	8	8	0	1	rs7640654	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:44763037A>C	ENST00000296091.4	+	4	984	c.728A>C	c.(727-729)gAa>gCa	p.E243A	ZNF502_ENST00000449836.1_Missense_Mutation_p.E243A|ZNF502_ENST00000436624.2_Missense_Mutation_p.E243A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	243			E -> A (in dbSNP:rs7640654).		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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AAATGCAATGAATGTGGGAAT	0.413													A|||	2697	0.538538	0.208	0.5288	5008	,	,		22772	0.8353		0.5219	False		,,,				2504	0.7035				p.E243A		Atlas-SNP	.											.	ZNF502	58	.	0			c.A728C						PASS	.	A	ALA/GLU,ALA/GLU,ALA/GLU,ALA/GLU	1140,3266	402.4+/-332.3	164,812,1227	102	108	106		728,728,728,728	3.6	0.5	3	dbSNP_116	106	4210,4390	567.0+/-388.8	1016,2178,1106	yes	missense,missense,missense,missense	ZNF502	NM_001134440.1,NM_001134441.1,NM_001134442.1,NM_033210.4	107,107,107,107	1180,2990,2333	CC,CA,AA		48.9535,25.8738,41.1349	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	243/545,243/545,243/545,243/545	44763037	5350,7656	2203	4300	6503	SO:0001583	missense	91392	exon4			GCAATGAATGTGG	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.728A>C	3.37:g.44763037A>C	ENSP00000296091:p.Glu243Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	83	5	0.060241	NM_001134440		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	1200|1200	0.5494505494505495|0.5494505494505495	112|112	0.22764227642276422|0.22764227642276422	205|205	0.5662983425414365|0.5662983425414365	492|492	0.8601398601398601|0.8601398601398601	391|391	0.5158311345646438|0.5158311345646438	A|A	15.41|15.41	2.824378|2.824378	0.50739|0.50739	0.258738|0.258738	0.489535|0.489535	ENSG00000196653|ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624|ENST00000427783	T;T;T|.	0.01165|.	5.24;5.24;5.24|.	3.63|3.63	3.63|3.63	0.41609|0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	P|P	5.000000000032756E-6|5.000000000032756E-6	B|.	0.19200|.	0.034|.	B|.	0.29176|.	0.099|.	T|T	0.09228|0.09228	-1.0684|-1.0684	8|5	0.72032|0.62326	D|D	0.01|0.03	-6.1294|-6.1294	12.1883|12.1883	0.54252|0.54252	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs7640654;rs52823982;rs59529674;rs7640654|rs7640654;rs52823982;rs59529674;rs7640654	243|.	Q8TBZ5|.	ZN502_HUMAN|.	A|H	243|243	ENSP00000397390:E243A;ENSP00000296091:E243A;ENSP00000406469:E243A|.	ENSP00000296091:E243A|ENSP00000397812:N243H	E|N	+|+	2|1	0|0	ZNF502|ZNF502	44738041|44738041	0.005000|0.005000	0.15991|0.15991	0.519000|0.519000	0.27824|0.27824	0.952000|0.952000	0.60782|0.60782	2.020000|2.020000	0.41010|0.41010	1.899000|1.899000	0.54978|0.54978	0.533000|0.533000	0.62120|0.62120	GAA|AAT	A|0.537;C|0.463	0.463	strong		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		C	44763037	A	C	44763037	3	2	27	1	0	0	0	0	1	0	0	0	17947	246	9	5	734	5	ZNF502	3	44763037	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	207	44763037	153259393	93	21781										
MST1	327	hgsc.bcm.edu	37	chr3	49723141	49723141	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagttctcctccagttgtgcAtgcggttcggaggtaaacgt	12	9	1	0	rs144982232	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:49723141A>G	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.H425H|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGTTGTGCATGCGGTTCGG	0.577													A|||	48	0.00958466	0.0	0.0014	5008	,	,		19851	0.0446		0.0	False		,,,				2504	0.002				p.H425H		Atlas-SNP	.											.	MST1	84	.	0			c.T1275C						PASS	.						46	45	45					3																	49723141		2203	4299	6502	SO:0001628	intergenic_variant	4485	exon11			TTGTGCATGCGGT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723141A>G		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	130	6	0.0461538	NM_020998	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			A|0.989;G|0.011	0.011	strong		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			G	49723141	A	G	49723141	1	3	27	0	1	0	0	0	0	0	0	0	9890	214	8	2		2	MST1	3	49723141	IGR	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	4960104	49723141	148299289	94	21782										
STAB1	23166	hgsc.bcm.edu	37	chr3	52548818	52548818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acggtgggctcaagtcgctgCctgcatagccacgctgaggc	14	13	1	1	rs740903	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:52548818C>T	ENST00000321725.6	+	35	3856	c.3780C>T	c.(3778-3780)tgC>tgT	p.C1260C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1260					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAAGTCGCTGCCTGCATAGCC	0.667													C|||	821	0.163938	0.0461	0.1412	5008	,	,		17171	0.2331		0.0934	False		,,,				2504	0.3405				p.C1260C		Atlas-SNP	.											.	STAB1	178	.	0			c.C3780T						PASS	.	C		298,4108	158.5+/-191.2	11,276,1916	42	46	45		3780	2.5	1	3	dbSNP_86	45	975,7625	210.1+/-251.1	53,869,3378	no	coding-synonymous	STAB1	NM_015136.2		64,1145,5294	TT,TC,CC		11.3372,6.7635,9.7878		1260/2571	52548818	1273,11733	2203	4300	6503	SO:0001819	synonymous_variant	23166	exon35			TCGCTGCCTGCAT	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3780C>T	3.37:g.52548818C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	4	0.0769231	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																			C|0.890;T|0.110	0.110	strong		0.667	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52548818	C	T	52548818	2	4	27	1	0	0	0	0	0	0	0	1	15236	747	26	2		2	STAB1	3	52548818	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2825677	52548818	145473612	95	21783										
RFT1	91869	hgsc.bcm.edu	37	chr3	53125922	53125922	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccaggcttccctgaagtcaTgtcattttgtcagtgcgtct	9	11	4	1	rs11242	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:53125922T>C	ENST00000296292.3	-	13	1684	c.1623A>G	c.(1621-1623)acA>acG	p.T541T	RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.T502T	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	541					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CCTGAAGTCATGTCATTTTGT	0.552													C|||	2456	0.490415	0.174	0.585	5008	,	,		18681	0.746		0.5964	False		,,,				2504	0.4785				p.T541T		Atlas-SNP	.											RFT1,colon,carcinoma,-1,1	RFT1	34	1	0			c.A1623G						PASS	.	C		1123,3283	717.7+/-408.7	144,835,1224	119	98	105		1623	-11.1	0	3	dbSNP_52	105	4798,3802	538.1+/-383.3	1355,2088,857	no	coding-synonymous	RFT1	NM_052859.3		1499,2923,2081	CC,CT,TT		44.2093,25.488,45.5251		541/542	53125922	5921,7085	2203	4300	6503	SO:0001819	synonymous_variant	91869	exon13			AAGTCATGTCATT	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1623A>G	3.37:g.53125922T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	129	6	0.0465116	NM_052859	Q96J03	Silent	SNP	ENST00000296292.3	37	CCDS2869.1																																																																																			T|0.505;C|0.495	0.495	strong		0.552	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		C	53125922	T	C	53125922	2	2	27	1	0	0	0	0	0	0	0	1	13257	1451	51	2		2	RFT1	3	53125922	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	577104	53125922	144896508	96	21784										
ACTR8	93973	hgsc.bcm.edu	37	chr3	53905308	53905308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttatccaggcccagggctttTccttcaaacagcgagatggc	10	12	1	1	rs1046677	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:53905308T>C	ENST00000335754.3	-	11	1618	c.1518A>G	c.(1516-1518)ggA>ggG	p.G506G	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.G395G|ACTR8_ENST00000231909.7_Silent_p.G211G	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	506					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCAGGGCTTTTCCTTCAAACA	0.547													C|||	3467	0.692292	0.7186	0.6196	5008	,	,		19990	0.9444		0.4523	False		,,,				2504	0.6953				p.G506G		Atlas-SNP	.											ACTR8_ENST00000231909,NS,carcinoma,-2,2	ACTR8	56	2	0			c.A1518G						scavenged	.	C		2977,1429	464.5+/-353.9	1009,959,235	103	100	101		1518	-2.5	0.9	3	dbSNP_86	101	3771,4829	614.9+/-396.3	814,2143,1343	no	coding-synonymous	ACTR8	NM_022899.4		1823,3102,1578	CC,CT,TT		43.8488,32.433,48.1163		506/625	53905308	6748,6258	2203	4300	6503	SO:0001819	synonymous_variant	93973	exon11			GGCTTTTCCTTCA		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1518A>G	3.37:g.53905308T>C		Somatic	155	1	0.00645161		WXS	Illumina HiSeq	Phase_I	136	5	0.0367647	NM_022899	B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1	1456	0.6666666666666666	363	0.7378048780487805	223	0.6160220994475138	541	0.9458041958041958	329	0.4340369393139842	C	9.636	1.137708	0.21123	0.67567	0.438488	ENSG00000113812	ENST00000486794	.	.	.	5.67	-2.54	0.06307	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999996	.	.	.	.	.	.	T	0.19976	-1.0289	3	.	.	.	-11.7537	7.8427	0.29408	0.0:0.2982:0.3936:0.3082	rs1046677;rs17641862;rs17846012;rs17858996;rs57230247;rs1046677	.	.	.	G	260	.	.	E	-	2	0	ACTR8	53880348	0.916000	0.31088	0.936000	0.37596	0.958000	0.62258	-0.016000	0.12613	-0.796000	0.04456	-1.551000	0.00897	GAA	T|0.410;C|0.590	0.590	strong		0.547	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		C	53905308	T	C	53905308	2	2	27	1	0	0	0	0	0	0	0	1	217	1770	62	2		2	ACTR8	3	53905308	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	779386	53905308	144117122	97	21785										
CACNA2D3	55799	hgsc.bcm.edu	37	chr3	54880461	54880461	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttgcaatcacaaataatggAtatatcctgacgcatccgga	7	9	1	1	rs3773603	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:54880461A>G	ENST00000474759.1	+	17	1641	c.1593A>G	c.(1591-1593)ggA>ggG	p.G531G	CACNA2D3_ENST00000415676.2_Silent_p.G531G|CACNA2D3_ENST00000490478.1_Silent_p.G437G|CACNA2D3_ENST00000288197.5_Silent_p.G531G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	531	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAAATAATGGATATATCCTGA	0.383													A|||	837	0.167133	0.112	0.1873	5008	,	,		17618	0.1786		0.1938	False		,,,				2504	0.1881				p.G531G		Atlas-SNP	.											.	CACNA2D3	159	.	0			c.A1593G						PASS	.	A		497,3269		34,429,1420	86	82	83		1593	1.2	1	3	dbSNP_107	83	1533,6683		142,1249,2717	no	coding-synonymous	CACNA2D3	NM_018398.2		176,1678,4137	GG,GA,AA		18.6587,13.197,16.9421		531/1092	54880461	2030,9952	1883	4108	5991	SO:0001819	synonymous_variant	55799	exon17			TAATGGATATATC	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1593A>G	3.37:g.54880461A>G		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	122	5	0.0409836	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																			A|0.825;G|0.175	0.175	strong		0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			G	54880461	A	G	54880461	2	3	27	1	0	0	0	0	0	0	0	1	2550	320	12	2		2	CACNA2D3	3	54880461	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	975153	54880461	143141969	98	21786										
CADPS	8618	hgsc.bcm.edu	37	chr3	62647994	62647994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaatgtttccttaccctggCtatttggtctgccatttgta	7	10	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:62647994C>A	ENST00000383710.4	-	4	1313	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	CADPS_ENST00000357948.3_Missense_Mutation_p.A322S|CADPS_ENST00000283269.9_Missense_Mutation_p.A322S|CADPS_ENST00000490353.2_Missense_Mutation_p.A322S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	322					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTACCCTGGCTATTTGGTCT	0.488																																					p.A322S		Atlas-SNP	.											.	CADPS	387	.	0			c.G964T						PASS	.						174	149	158					3																	62647994		2203	4300	6503	SO:0001583	missense	8618	exon4			CCCTGGCTATTTG	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.964G>T	3.37:g.62647994C>A	ENSP00000373215:p.Ala322Ser	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	36	18	0.5	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.965064	0.53507	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.54	5.54	0.83059	.	0.111048	0.64402	D	0.000006	D	0.86389	0.5921	N	0.20845	0.615	0.58432	D	0.999993	B;D;P	0.61697	0.073;0.99;0.657	B;D;B	0.73380	0.074;0.98;0.138	D	0.83718	0.0191	10	0.21014	T	0.42	.	18.2515	0.90005	0.0:1.0:0.0:0.0	.	322;322;322	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	S	322	ENSP00000373215:A322S;ENSP00000350632:A322S;ENSP00000283269:A322S;ENSP00000418736:A322S	ENSP00000283269:A322S	A	-	1	0	CADPS	62623034	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.387000	0.66243	2.606000	0.88127	0.655000	0.94253	GCC	.	.	none		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		A	62647994	C	A	62647994	3	1	27	1	0	0	0	0	1	0	0	0	2570	797	28	4	3278	4	CADPS	3	62647994	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	7767533	62647994	135374436	99	21787										
LRIG1	26018	hgsc.bcm.edu	37	chr3	66430870	66430870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatgcaggctgtagctctgtGgagtccgggtgatacaacct	14	9	1	1	rs61754218	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:66430870G>A	ENST00000273261.3	-	19	3623	c.3099C>T	c.(3097-3099)tcC>tcT	p.S1033S	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.S1010S|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1033					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTAGCTCTGTGGAGTCCGGGT	0.527													G|||	223	0.0445288	0.003	0.0533	5008	,	,		19006	0.0179		0.0885	False		,,,				2504	0.0767				p.S1033S		Atlas-SNP	.											.	LRIG1	138	.	0			c.C3099T						PASS	.	G		72,4334	65.8+/-103.3	1,70,2132	109	113	112		3099	-0.2	0	3	dbSNP_129	112	611,7989	160.4+/-213.5	20,571,3709	no	coding-synonymous	LRIG1	NM_015541.2		21,641,5841	AA,AG,GG		7.1047,1.6341,5.2514		1033/1094	66430870	683,12323	2203	4300	6503	SO:0001819	synonymous_variant	26018	exon19			CTCTGTGGAGTCC	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3099C>T	3.37:g.66430870G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																			A|0.049;C|0.000;G|0.950	0.049	strong		0.527	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		A	66430870	G	A	66430870	2	1	27	1	0	0	0	0	0	0	0	1	8944	1335	47	2		2	LRIG1	3	66430870	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3782876	66430870	131591560	100	21788										
CHMP2B	25978	hgsc.bcm.edu	37	chr3	87276699	87276699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccctcttcaagaagaaaacCgtggatggtgagttccaggc	11	10	2	3	rs2279720	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:87276699C>T	ENST00000263780.4	+	1	265	c.27C>T	c.(25-27)acC>acT	p.T9T	CHMP2B_ENST00000472024.1_3'UTR|MIR4795_ENST00000584182.1_RNA|CHMP2B_ENST00000471660.1_5'UTR|CHMP2B_ENST00000494980.1_Silent_p.T9T	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	9					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGAAGAAAACCGTGGATGGTG	0.642													C|||	537	0.107228	0.1112	0.0692	5008	,	,		15188	0.1875		0.0696	False		,,,				2504	0.0849				p.T9T		Atlas-SNP	.											CHMP2B,NS,carcinoma,0,1	CHMP2B	28	1	0			c.C27T						PASS	.	C		458,3948	215.5+/-234.4	21,416,1766	61	71	67	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	27	1	1	3	dbSNP_100	67	758,7842	180.6+/-229.5	39,680,3581	no	coding-synonymous	CHMP2B	NM_014043.3		60,1096,5347	TT,TC,CC		8.814,10.3949,9.3495		9/214	87276699	1216,11790	2203	4300	6503	SO:0001819	synonymous_variant	25978	exon1			GAAAACCGTGGAT	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.27C>T	3.37:g.87276699C>T		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	144	8	0.0555556	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	CCDS2918.1																																																																																			C|0.889;T|0.111	0.111	strong		0.642	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		T	87276699	C	T	87276699	2	4	27	1	0	0	0	0	0	0	0	1	3355	639	23	1		1	CHMP2B	3	87276699	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	20845829	87276699	110745731	101	21789										
TMEM45A	55076	hgsc.bcm.edu	37	chr3	100287764	100287764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atatgcttttgttggcattaTgcagtaaccattgtcatcgt	8	7	1	0	rs28722928	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:100287764T>C	ENST00000323523.4	+	5	1000	c.687T>C	c.(685-687)taT>taC	p.Y229Y	TMEM45A_ENST00000403410.1_Silent_p.Y245Y	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	229						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GTTGGCATTATGCAGTAACCA	0.393													T|||	1251	0.2498	0.3835	0.2493	5008	,	,		19660	0.3185		0.1213	False		,,,				2504	0.1309				p.Y229Y		Atlas-SNP	.											.	TMEM45A	35	.	0			c.T687C						PASS	.	T		1506,2900	479.4+/-358.5	266,974,963	261	252	255		687	-2.4	0.1	3	dbSNP_125	255	1044,7556	220.8+/-258.4	63,918,3319	no	coding-synonymous	TMEM45A	NM_018004.1		329,1892,4282	CC,CT,TT		12.1395,34.1807,19.6063		229/276	100287764	2550,10456	2203	4300	6503	SO:0001819	synonymous_variant	55076	exon5			GCATTATGCAGTA	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.687T>C	3.37:g.100287764T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	120	5	0.0416667	NM_018004	Q53YW5	Silent	SNP	ENST00000323523.4	37	CCDS2937.1																																																																																			T|0.783;C|0.217	0.217	strong		0.393	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		C	100287764	T	C	100287764	2	2	27	1	0	0	0	0	0	0	0	1	16166	1471	51	2		2	TMEM45A	3	100287764	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	13011065	100287764	97734666	102	21790										
GPR128	84873	hgsc.bcm.edu	37	chr3	100368546	100368546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttgtttttcagactttcaAaaaggattatcaatatccca	4	9	3	1	rs61730367	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:100368546A>G	ENST00000273352.3	+	11	1542	c.1274A>G	c.(1273-1275)aAa>aGa	p.K425R	GPR128_ENST00000475887.1_Missense_Mutation_p.K130R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	425	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CAGACTTTCAAAAAGGATTAT	0.353													A|||	609	0.121605	0.0802	0.1643	5008	,	,		19359	0.251		0.0497	False		,,,				2504	0.0879				p.K425R	Pancreas(87;185 1975 7223 18722)	Atlas-SNP	.											.	GPR128	126	.	0			c.A1274G						PASS	.	A	ARG/LYS	334,4070	166.9+/-198.0	10,314,1878	98	93	95		1274	-1.6	0.6	3	dbSNP_129	95	444,8156	127.7+/-186.0	10,424,3866	yes	missense	GPR128	NM_032787.2	26	20,738,5744	GG,GA,AA		5.1628,7.584,5.9828	benign	425/798	100368546	778,12226	2202	4300	6502	SO:0001583	missense	84873	exon11			CTTTCAAAAAGGA	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1274A>G	3.37:g.100368546A>G	ENSP00000273352:p.Lys425Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	100	5	0.05	NM_032787	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	284	0.13003663003663005	26	0.052845528455284556	63	0.17403314917127072	155	0.270979020979021	40	0.052770448548812667	A	10.44	1.351018	0.24512	0.07584	0.051628	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.38240	1.15;1.46	5.49	-1.61	0.08399	GPS domain (2);	0.968711	0.08539	N	0.930924	T	0.00012	0.0000	N	0.21373	0.66	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.38178	-0.9673	9	0.08179	T	0.78	.	5.1415	0.14961	0.5914:0.0:0.286:0.1226	rs61730367	130;425	E9PHI0;Q96K78	.;GP128_HUMAN	R	425;130	ENSP00000273352:K425R;ENSP00000419788:K130R	ENSP00000273352:K425R	K	+	2	0	GPR128	101851236	0.001000	0.12720	0.560000	0.28344	0.455000	0.32408	-0.066000	0.11598	-0.200000	0.10300	-0.327000	0.08410	AAA	A|0.920;G|0.080	0.080	strong		0.353	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			G	100368546	A	G	100368546	3	3	27	1	0	0	0	0	1	0	0	0	6641	14	1	2	1316	2	GPR128	3	100368546	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	80782	100368546	97653884	103	21791										
ABI3BP	25890	hgsc.bcm.edu	37	chr3	100617680	100617680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaaccccaggacaggaagacCgagctcggtgtcagagtgcc	13	12	1	2	rs2245370	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:100617680C>T	ENST00000284322.5	-	4	517	c.408G>A	c.(406-408)tcG>tcA	p.S136S	ABI3BP_ENST00000471714.1_Silent_p.S136S|ABI3BP_ENST00000532144.1_Intron|ABI3BP_ENST00000495063.1_Silent_p.S136S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	136	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACAGGAAGACCGAGCTCGGTG	0.473													C|||	3646	0.728035	0.7519	0.6715	5008	,	,		19837	0.9335		0.5239	False		,,,				2504	0.7342				p.S136S		Atlas-SNP	.											.	ABI3BP	305	.	0			c.G408A						PASS	.	C		2988,1252		1079,830,211	96	106	103		408	-10.9	0.4	3	dbSNP_100	103	4166,4334		1012,2142,1096	no	coding-synonymous	ABI3BP	NM_015429.3		2091,2972,1307	TT,TC,CC		49.0118,29.5283,43.8462		136/1076	100617680	7154,5586	2120	4250	6370	SO:0001819	synonymous_variant	25890	exon4			GAAGACCGAGCTC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.408G>A	3.37:g.100617680C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	98	6	0.0612245	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	CCDS46880.1																																																																																			C|0.280;T|0.720	0.720	strong		0.473	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			T	100617680	C	T	100617680	2	4	27	1	0	0	0	0	0	0	0	1	91	639	23	1		1	ABI3BP	3	100617680	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	249134	100617680	97404750	104	21792										
ATP6V1A	523	hgsc.bcm.edu	37	chr3	113517215	113517215	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacaaacacttcacagagttCgttcctctgaggacgaaagc	9	11	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:113517215C>T	ENST00000273398.3	+	12	1524	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	ATP6V1A_ENST00000538620.1_Silent_p.F439F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	472					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.F472F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TCACAGAGTTCGTTCCTCTGA	0.438																																					p.F472F		Atlas-SNP	.											ATP6V1A,NS,carcinoma,0,2	ATP6V1A	71	2	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T						scavenged	.						148	137	141					3																	113517215		2203	4300	6503	SO:0001819	synonymous_variant	523	exon12			AGAGTTCGTTCCT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1416C>T	3.37:g.113517215C>T		Somatic	225	2	0.00888889		WXS	Illumina HiSeq	Phase_I	201	7	0.0348259	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	CCDS2976.1																																																																																			.	.	none		0.438	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		T	113517215	C	T	113517215	2	4	27	1	0	0	0	0	0	0	0	1	1177	883	31	1		1	ATP6V1A	3	113517215	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	12899535	113517215	84505215	105	21793										
ADPRH	141	hgsc.bcm.edu	37	chr3	119305379	119305379	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctctttttacagcctatgcTgtgaatagcagaccaccctt	7	12	1	2	rs25676	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:119305379T>A	ENST00000478399.1	+	3	1951	c.546T>A	c.(544-546)gcT>gcA	p.A182A	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Silent_p.A182A|ADPRH_ENST00000465513.1_Silent_p.A182A|ADPRH_ENST00000478927.1_Silent_p.A182A			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	182					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CAGCCTATGCTGTGAATAGCA	0.512													T|||	2065	0.41234	0.4372	0.281	5008	,	,		19874	0.5089		0.2634	False		,,,				2504	0.5256				p.A182A	GBM(133;579 1804 5989 9967 40052)	Atlas-SNP	.											.	ADPRH	33	.	0			c.T546A						PASS	.	T		1754,2652	521.9+/-370.6	359,1036,808	103	106	105		546	-1	1	3	dbSNP_72	105	2533,6067	414.2+/-351.4	379,1775,2146	no	coding-synonymous	ADPRH	NM_001125.2		738,2811,2954	AA,AT,TT		29.4535,39.8094,32.9617		182/358	119305379	4287,8719	2203	4300	6503	SO:0001819	synonymous_variant	141	exon4			CTATGCTGTGAAT	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.546T>A	3.37:g.119305379T>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	68	6	0.0882353	NM_001125	B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	CCDS2990.1																																																																																			T|0.650;A|0.350	0.350	strong		0.512	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		A	119305379	T	A	119305379	2	1	27	1	0	0	0	0	0	0	0	1	331	1567	55	5		5	ADPRH	3	119305379	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	5788164	119305379	78717051	106	21794										
EAF2	55840	hgsc.bcm.edu	37	chr3	121563355	121563355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaaggataccttgaggttggTgaaggtgaacaggtgaccat	15	5	0	4	rs9884018	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:121563355T>C	ENST00000273668.2	+	2	233	c.162T>C	c.(160-162)ggT>ggC	p.G54G	EAF2_ENST00000451944.2_Silent_p.G54G	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	54	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G54G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTGAGGTTGGTGAAGGTGAAC	0.323													T|||	1233	0.246206	0.1339	0.1455	5008	,	,		16668	0.6161		0.1382	False		,,,				2504	0.1994				p.G54G	Esophageal Squamous(194;1942 2097 24663 29345 31866)	Atlas-SNP	.											EAF2,NS,carcinoma,0,1	EAF2	26	1	1	Substitution - coding silent(1)	prostate(1)	c.T162C						scavenged	.	T		715,3691	299.3+/-285.7	70,575,1558	125	129	128		162	3.3	1	3	dbSNP_119	128	1184,7416	241.5+/-271.8	85,1014,3201	no	coding-synonymous	EAF2	NM_018456.4		155,1589,4759	CC,CT,TT		13.7674,16.2279,14.601		54/261	121563355	1899,11107	2203	4300	6503	SO:0001819	synonymous_variant	55840	exon2			GGTTGGTGAAGGT	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.162T>C	3.37:g.121563355T>C		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	219	8	0.0365297	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																			T|0.799;C|0.201	0.201	strong		0.323	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		C	121563355	T	C	121563355	2	2	27	1	0	0	0	0	0	0	0	1	4876	1683	59	2		2	EAF2	3	121563355	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	2257976	121563355	76459075	107	21795										
SLC15A2	6565	hgsc.bcm.edu	37	chr3	121647286	121647286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggaaatggccccagcccagCcaggtccccaggaggttttc	12	14	0	0	rs1143671	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:121647286C>T	ENST00000489711.1	+	15	1613	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.P378S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	409			P -> S (in dbSNP:rs1143671).		drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCCAGCCCAGCCAGGTCCCCA	0.443													T|||	2263	0.451877	0.4834	0.2939	5008	,	,		19560	0.6984		0.4235	False		,,,				2504	0.2965				p.P409S		Atlas-SNP	.											.	SLC15A2	92	.	0			c.C1225T						PASS	.	T	SER/PRO,SER/PRO	2150,2256	595.1+/-388.4	532,1086,585	161	165	163		1132,1225	-0.5	0	3	dbSNP_86	163	3905,4695	606.1+/-395.0	880,2145,1275	yes	missense,missense	SLC15A2	NM_001145998.1,NM_021082.3	74,74	1412,3231,1860	TT,TC,CC		45.407,48.7971,46.5554	possibly-damaging,possibly-damaging	378/699,409/730	121647286	6055,6951	2203	4300	6503	SO:0001583	missense	6565	exon15			GCCCAGCCAGGTC	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1225C>T	3.37:g.121647286C>T	ENSP00000417085:p.Pro409Ser	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	56	6	0.107143	NM_021082	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	1071	0.49038461538461536	227	0.4613821138211382	100	0.27624309392265195	427	0.7465034965034965	317	0.4182058047493404	T	10.32	1.317079	0.23908	0.487971	0.45407	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.05447	3.44;3.44	5.61	-0.531	0.11894	.	0.512979	0.23208	N	0.050705	T	0.00012	0.0000	M	0.86097	2.795	0.58432	P	2.9999999999752447E-6	P;D	0.53462	0.809;0.96	P;P	0.59595	0.517;0.86	T	0.41752	-0.9491	9	0.59425	D	0.04	0.0419	2.425	0.04457	0.2192:0.406:0.2314:0.1434	rs1143671;rs1316300;rs3749457;rs52819015;rs59056692;rs1143671	378;409	B4E2A7;Q16348	.;S15A2_HUMAN	S	409;371;378	ENSP00000417085:P409S;ENSP00000295605:P378S	ENSP00000295605:P378S	P	+	1	0	SLC15A2	123129976	0.313000	0.24554	0.004000	0.12327	0.084000	0.17831	-0.176000	0.09811	-0.540000	0.06265	-0.743000	0.03520	CCA	C|0.523;T|0.477	0.477	strong		0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		T	121647286	C	T	121647286	3	4	27	1	0	0	0	0	1	0	0	0	14399	739	26	2	1283	2	SLC15A2	3	121647286	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	83931	121647286	76375144	108	21796										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130114190	130114190	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatgtttataaggaacatctCctgccaataacaggcaattc	7	9	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:130114190C>T	ENST00000432398.2	+	8	3944	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	COL6A5_ENST00000265379.6_Silent_p.L1150L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1150	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGGAACATCTCCTGCCAATAA	0.383																																					p.L1150L		Atlas-SNP	.											.	COL6A5	205	.	0			c.C3450T						PASS	.						17	16	16					3																	130114190		692	1591	2283	SO:0001819	synonymous_variant	256076	exon8			ACATCTCCTGCCA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3450C>T	3.37:g.130114190C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	123	5	0.0406504	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																				.	.	none		0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130114190	C	T	130114190	2	4	27	1	0	0	0	0	0	0	0	1	3702	842	30	2		2	COL6A5	3	130114190	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8466904	130114190	67908240	109	21797										
SLCO2A1	6578	hgsc.bcm.edu	37	chr3	133698349	133698349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcaagctggaaatgagaccCgatgaagaactggagagccc	12	9	1	4	rs10935090	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:133698349C>T	ENST00000310926.4	-	2	483	c.210G>A	c.(208-210)tcG>tcA	p.S70S	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Silent_p.S70S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	70					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AAATGAGACCCGATGAAGAAC	0.552													C|||	1278	0.255192	0.1241	0.1859	5008	,	,		21070	0.5357		0.1302	False		,,,				2504	0.3211				p.S70S		Atlas-SNP	.											.	SLCO2A1	72	.	0			c.G210A						PASS	.	C		536,3870	242.5+/-252.5	23,490,1690	147	143	144		210	-10.1	0	3	dbSNP_120	144	1142,7458	236.1+/-268.4	64,1014,3222	no	coding-synonymous	SLCO2A1	NM_005630.2		87,1504,4912	TT,TC,CC		13.2791,12.1652,12.9017		70/644	133698349	1678,11328	2203	4300	6503	SO:0001819	synonymous_variant	6578	exon2			GAGACCCGATGAA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.210G>A	3.37:g.133698349C>T		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_005630	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1																																																																																			C|0.815;T|0.185	0.185	strong		0.552	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		T	133698349	C	T	133698349	2	4	27	1	0	0	0	0	0	0	0	1	14726	639	23	1		1	SLCO2A1	3	133698349	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3584159	133698349	64324081	110	21798										
TRPC1	7220	hgsc.bcm.edu	37	chr3	142503605	142503605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtttggtttggacagatgtcGggttaccgacgcaagcccac	13	10	0	1	rs7621642	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:142503605G>A	ENST00000476941.1	+	7	1506	c.1020G>A	c.(1018-1020)tcG>tcA	p.S340S	TRPC1_ENST00000273482.6_Silent_p.S306S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	340					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.S306S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GACAGATGTCGGGTTACCGAC	0.408													A|||	1989	0.397165	0.7602	0.1873	5008	,	,		18120	0.4077		0.2256	False		,,,				2504	0.2209				p.S340S		Atlas-SNP	.											TRPC1,NS,carcinoma,0,1	TRPC1	82	1	1	Substitution - coding silent(1)	stomach(1)	c.G1020A						scavenged	.	A		2947,1459	470.4+/-355.7	989,969,245	121	111	115		918	2	1	3	dbSNP_116	115	1792,6808	733.4+/-406.9	206,1380,2714	no	coding-synonymous	TRPC1	NM_003304.4		1195,2349,2959	AA,AG,GG		20.8372,33.1139,36.437		306/760	142503605	4739,8267	2203	4300	6503	SO:0001819	synonymous_variant	7220	exon7			GATGTCGGGTTAC	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1020G>A	3.37:g.142503605G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	135	3	0.0222222	NM_001251845	Q14CE4	Silent	SNP	ENST00000476941.1	37	CCDS58856.1																																																																																			G|0.616;A|0.384	0.384	strong		0.408	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		A	142503605	G	A	142503605	2	1	27	1	0	0	0	0	0	0	0	1	16575	1103	39	1		1	TRPC1	3	142503605	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	8805256	142503605	55518825	111	21799										
TRPC1	7220	hgsc.bcm.edu	37	chr3	142523349	142523349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tactttgatgacaaatgtacGttacctccacctttcaacat	4	11	1	2	rs3821647	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:142523349G>A	ENST00000476941.1	+	12	2517	c.2031G>A	c.(2029-2031)acG>acA	p.T677T	TRPC1_ENST00000273482.6_Silent_p.T643T	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	677					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.T643T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACAAATGTACGTTACCTCCAC	0.368													G|||	972	0.194089	0.2186	0.1354	5008	,	,		16060	0.2391		0.2038	False		,,,				2504	0.1462				p.T677T		Atlas-SNP	.											TRPC1,NS,carcinoma,0,1	TRPC1	82	1	1	Substitution - coding silent(1)	stomach(1)	c.G2031A						scavenged	.	G		928,3478	352.6+/-311.8	97,734,1372	100	95	97		1929	-3.1	1	3	dbSNP_107	97	1578,7022	294.8+/-302.1	163,1252,2885	no	coding-synonymous	TRPC1	NM_003304.4		260,1986,4257	AA,AG,GG		18.3488,21.0622,19.268		643/760	142523349	2506,10500	2203	4300	6503	SO:0001819	synonymous_variant	7220	exon12			ATGTACGTTACCT	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2031G>A	3.37:g.142523349G>A		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	229	6	0.0262009	NM_001251845	Q14CE4	Silent	SNP	ENST00000476941.1	37	CCDS58856.1																																																																																			G|0.806;A|0.194	0.194	strong		0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		A	142523349	G	A	142523349	2	1	27	1	0	0	0	0	0	0	0	1	16575	1132	40	1		1	TRPC1	3	142523349	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	19744	142523349	55499081	112	21800										
PLCH1	23007	hgsc.bcm.edu	37	chr3	155218568	155218568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtactgtaagatttagaccGtgattttgtagttttctgcc	9	6	1	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:155218568G>A	ENST00000340059.7	-	13	1683	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	PLCH1_ENST00000460012.1_Missense_Mutation_p.R544W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R544W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R562W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R544W|PLCH1_ENST00000494598.1_Missense_Mutation_p.R562W	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	562					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATTTAGACCGTGATTTTGTA	0.393																																					p.R562W		Atlas-SNP	.											.	PLCH1	406	.	0			c.C1684T						PASS	.						194	176	182					3																	155218568		2203	4300	6503	SO:0001583	missense	23007	exon13			TAGACCGTGATTT	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1684C>T	3.37:g.155218568G>A	ENSP00000345988:p.Arg562Trp	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	63	7	0.111111	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554572	0.65425	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.81	3.84	0.44239	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.619336	0.16832	N	0.197725	T	0.58119	0.2100	L	0.56769	1.78	0.41436	D	0.98789	D;D;D	0.69078	0.997;0.995;0.995	P;P;P	0.60473	0.875;0.753;0.663	T	0.59204	-0.7498	10	0.66056	D	0.02	.	9.7551	0.40498	0.0:0.1019:0.557:0.3411	.	544;562;562	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	W	562;544;562;562;544;544	ENSP00000419100:R562W;ENSP00000417502:R544W;ENSP00000402759:R562W;ENSP00000345988:R562W;ENSP00000335469:R544W;ENSP00000412977:R544W	ENSP00000335469:R544W	R	-	1	2	PLCH1	156701262	0.987000	0.35691	0.993000	0.49108	0.996000	0.88848	1.413000	0.34725	2.736000	0.93811	0.655000	0.94253	CGG	.	.	none		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155218568	G	A	155218568	3	1	27	1	0	0	0	0	1	0	0	0	12037	1144	40	1	3456	1	PLCH1	3	155218568	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	12695219	155218568	42803862	113	21801										
WDR49	151790	hgsc.bcm.edu	37	chr3	167320010	167320010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccaaaggacacccactggttTagagacaacatagggattcc	9	11	0	1	rs75218075	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:167320010T>C	ENST00000308378.3	-	3	462	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E	WDR49_ENST00000453925.2_Missense_Mutation_p.K106E|WDR49_ENST00000479765.1_Missense_Mutation_p.K394E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	53										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCCACTGGTTTAGAGACAACA	0.378													T|||	364	0.0726837	0.087	0.0101	5008	,	,		18820	0.2034		0.005	False		,,,				2504	0.0327				p.K53E		Atlas-SNP	.											.	WDR49	188	.	0			c.A157G						PASS	.	T	GLU/LYS	279,4127	154.8+/-188.1	7,265,1931	73	71	72		157	5.4	1	3	dbSNP_131	72	17,8583	13.3+/-46.6	1,15,4284	yes	missense	WDR49	NM_178824.3	56	8,280,6215	CC,CT,TT		0.1977,6.3323,2.2759	probably-damaging	53/698	167320010	296,12710	2203	4300	6503	SO:0001583	missense	151790	exon3			CTGGTTTAGAGAC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.157A>G	3.37:g.167320010T>C	ENSP00000311343:p.Lys53Glu	Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	257	11	0.0428016	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	152	0.0695970695970696	39	0.07926829268292683	2	0.0055248618784530384	107	0.18706293706293706	4	0.005277044854881266	T	21.9	4.219294	0.79464	0.063323	0.001977	ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925	T;T;T	0.59906	0.23;0.23;0.23	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.232834	0.41396	D	0.000884	T	0.00210	0.0006	L	0.52823	1.66	0.34878	D	0.744317	D;D;D	0.69078	0.957;0.957;0.997	P;P;P	0.62649	0.71;0.621;0.905	T	0.10337	-1.0634	10	0.39692	T	0.17	.	14.4309	0.67249	0.0:0.0:0.0:1.0	.	106;394;53	E7EQK3;E9PDB0;Q8IV35	.;.;WDR49_HUMAN	E	53;394;106	ENSP00000311343:K53E;ENSP00000419749:K394E;ENSP00000410863:K106E	ENSP00000311343:K53E	K	-	1	0	WDR49	168802704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.996000	0.49449	2.038000	0.60285	0.455000	0.32223	AAA	T|0.965;C|0.035	0.035	strong		0.378	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		C	167320010	T	C	167320010	3	2	27	1	0	0	0	0	1	0	0	0	17299	1763	61	2	1988	2	WDR49	3	167320010	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	12101442	167320010	30702420	114	21802										
MECOM	2122	hgsc.bcm.edu	37	chr3	168810874	168810874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttccagttcagaatgaggCgacgatgttgctgtacctgt	11	9	1	2	rs17466625	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:168810874C>T	ENST00000464456.1	-	12	3645	c.2445G>A	c.(2443-2445)tcG>tcA	p.S815S	MECOM_ENST00000433243.2_Silent_p.S825S|MECOM_ENST00000264674.3_Silent_p.S889S|MECOM_ENST00000468789.1_Silent_p.S824S|MECOM_ENST00000460814.1_Silent_p.S815S|MECOM_ENST00000392736.3_Silent_p.S824S|MECOM_ENST00000494292.1_Silent_p.S1003S|MECOM_ENST00000472280.1_Silent_p.S825S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGAATGAGGCGACGATGTTG	0.393													C|||	455	0.0908546	0.0159	0.1037	5008	,	,		18533	0.0694		0.2008	False		,,,				2504	0.092				p.S1012S		Atlas-SNP	.											.	MECOM	216	.	0			c.G3036A						PASS	.	C	,,,,,,	206,4200	127.8+/-164.7	5,196,2002	111	100	104		2667,2472,2448,2445,2472,3036,2472	-1.1	1	3	dbSNP_123	104	1750,6850	317.2+/-313.1	180,1390,2730	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	185,1586,4732	TT,TC,CC		20.3488,4.6754,15.0392	,,,,,,	889/1117,824/1052,816/1044,815/1043,824/1052,1012/1240,824/1052	168810874	1956,11050	2203	4300	6503	SO:0001819	synonymous_variant	2122	exon14			ATGAGGCGACGAT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2445G>A	3.37:g.168810874C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	87	6	0.0689655	NM_004991	Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	CCDS54669.1																																																																																			C|0.871;T|0.129	0.129	strong		0.393	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168810874	C	T	168810874	2	4	27	1	0	0	0	0	0	0	0	1	9422	755	27	1		1	MECOM	3	168810874	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1490864	168810874	29211556	115	21803										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183209942	183209942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gataccgcagctggcccgctCgtggctgagctgggtcacca	14	14	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:183209942C>T	ENST00000341319.3	-	7	1674	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	547					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGGCCCGCTCGTGGCTGAGC	0.657																																					p.E547K		Atlas-SNP	.											.	KLHL6	100	.	0			c.G1639A						PASS	.						39	39	39					3																	183209942		2202	4299	6501	SO:0001583	missense	89857	exon7			CCCGCTCGTGGCT	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1639G>A	3.37:g.183209942C>T	ENSP00000341342:p.Glu547Lys	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	151	52	0.344371	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888221	0.33348	.	.	ENSG00000172578	ENST00000341319	T	0.65732	-0.17	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	N	0.21194	0.64	0.53688	D	0.999972	P	0.37663	0.604	B	0.37508	0.252	T	0.48364	-0.9042	10	0.02654	T	1	.	20.029	0.97531	0.0:1.0:0.0:0.0	.	547	Q8WZ60	KLHL6_HUMAN	K	547	ENSP00000341342:E547K	ENSP00000341342:E547K	E	-	1	0	KLHL6	184692636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.907000	0.69908	2.742000	0.94016	0.591000	0.81541	GAG	.	.	none		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183209942	C	T	183209942	3	4	27	1	0	0	0	0	1	0	0	0	8393	893	31	1	230	1	KLHL6	3	183209942	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	14399068	183209942	14812488	116	21804										
KLHL6	89857	hgsc.bcm.edu	37	chr3	183226186	183226186	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgtaactctgaacctgcttCtttagactgtccagcgagtg	9	10	2	2	rs61447052	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:183226186C>T	ENST00000341319.3	-	3	605	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	190	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.K190K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GAACCTGCTTCTTTAGACTGT	0.493													C|||	403	0.0804712	0.0908	0.0303	5008	,	,		20474	0.1786		0.001	False		,,,				2504	0.0828				p.K190K		Atlas-SNP	.											KLHL6,NS,carcinoma,0,1	KLHL6	100	1	1	Substitution - coding silent(1)	stomach(1)	c.G570A						scavenged	.	C		323,4083	171.2+/-201.5	9,305,1889	71	75	73		570	5	1	3	dbSNP_129	73	7,8593	6.4+/-24.3	0,7,4293	no	coding-synonymous	KLHL6	NM_130446.2		9,312,6182	TT,TC,CC		0.0814,7.3309,2.5373		190/622	183226186	330,12676	2203	4300	6503	SO:0001819	synonymous_variant	89857	exon3			CTGCTTCTTTAGA	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.570G>A	3.37:g.183226186C>T		Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	90	6	0.0666667	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																			C|0.963;T|0.037	0.037	strong		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183226186	C	T	183226186	2	4	27	1	0	0	0	0	0	0	0	1	8393	912	32	2		2	KLHL6	3	183226186	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	16244	183226186	14796244	117	21805										
ABCC5	10057	hgsc.bcm.edu	37	chr3	183699516	183699516	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaaaatctttaaactcactTtgaacactctgagaaaatgc	4	9	3	2	rs7636910	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:183699516T>C	ENST00000334444.6	-	8	1386	c.1146A>G	c.(1144-1146)caA>caG	p.Q382Q	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Splice_Site_p.Q382Q	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	382	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.Q382Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TAAACTCACTTTGAACACTCT	0.378													T|||	1674	0.334265	0.2224	0.2925	5008	,	,		20737	0.4167		0.3867	False		,,,				2504	0.3763				p.Q382Q		Atlas-SNP	.											ABCC5,NS,carcinoma,0,1	ABCC5	142	1	1	Substitution - coding silent(1)	stomach(1)	c.A1146G						scavenged	.	T		1026,2724		144,738,993	96	94	94		1146	4.6	1	3	dbSNP_116	94	3065,5149		562,1941,1604	yes	coding-synonymous-near-splice	ABCC5	NM_005688.2		706,2679,2597	CC,CT,TT		37.3143,27.36,34.1942		382/1438	183699516	4091,7873	1875	4107	5982	SO:0001630	splice_region_variant	10057	exon8			CTCACTTTGAACA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1147+1A>G	3.37:g.183699516T>C		Somatic	179	1	0.00558659		WXS	Illumina HiSeq	Phase_I	193	9	0.0466321	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																			T|0.657;C|0.343	0.343	strong		0.378	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	Silent	C	183699516	T	C	183699516	5	2	27	1	0	0	0	0	0	0	1	0	56	1855	64	2	3259	2	ABCC5	3	183699516	Splice_Site	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	473330	183699516	14322914	118	21806										
MUC20	200958	hgsc.bcm.edu	37	chr3	195452951	195452951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacagagtcagctgcacctGatgccacggttgggacccca	11	15	1	2	rs2688542		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:195452951G>C	ENST00000447234.2	+	2	1603	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H	MUC20_ENST00000436408.1_Missense_Mutation_p.D493H|MUC20_ENST00000445522.2_Missense_Mutation_p.D458H|MUC20_ENST00000320736.6_Missense_Mutation_p.D322H	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	493	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	D -> H (in Ref. 1; BAD06718/BAD06720, 2; AAQ88814, 3; BAC11428 and 5; AAH44243). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGCTGCACCTGATGCCACGGT	0.602																																					p.D322H		Atlas-SNP	.											MUC20,NS,carcinoma,0,1	MUC20	84	1	0			c.G964C						scavenged	.						53	48	49					3																	195452951		2178	4281	6459	SO:0001583	missense	200958	exon3			GCACCTGATGCCA	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1477G>C	3.37:g.195452951G>C	ENSP00000414350:p.Asp493His	Somatic	313	1	0.00319489		WXS	Illumina HiSeq	Phase_I	321	12	0.0373832	NM_152673	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		1354	0.61996336996337	233	0.4735772357723577	204	0.56353591160221	451	0.7884615384615384	466	0.6147757255936676	G	8.698	0.909135	0.17833	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.20463	2.51;2.58;2.67;2.07	3.94	2.12	0.27331	.	1.625610	0.03967	N	0.290924	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	D	0.54964	0.969	P	0.50490	0.642	T	0.41179	-0.9523	9	0.36615	T	0.2	1.5642	5.8281	0.18564	0.2458:0.0:0.7542:0.0	rs2688542;rs3828412	322	E9PH32	.	H	493;322;493;458	ENSP00000414350:D493H;ENSP00000325431:D322H;ENSP00000396774:D493H;ENSP00000405629:D458H	ENSP00000325431:D322H	D	+	1	0	MUC20	196938622	0.001000	0.12720	0.002000	0.10522	0.052000	0.14988	0.431000	0.21444	0.428000	0.26173	0.514000	0.50259	GAT	G|0.379;C|0.621	0.621	strong		0.602	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		C	195452951	G	C	195452951	3	2	27	1	0	0	0	0	1	0	0	0	9976	1290	45	4	974	4	MUC20	3	195452951	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	11753435	195452951	2569479	119	21807										
PAK2	5062	hgsc.bcm.edu	37	chr3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcataattctgaatcatgtCtgataacggagaactggaag	9	6	4	3	rs67093638		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																					p.S2C		Atlas-SNP	.											PAK2_ENST00000327134,NS,carcinoma,0,4	PAK2	113	4	2	Substitution - Missense(2)	prostate(2)	c.C5G						scavenged	.						81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062	exon2			TCATGTCTGATAA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys	Somatic	236	2	0.00847458		WXS	Illumina HiSeq	Phase_I	234	5	0.0213675	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT	C|0.986;G|0.014	0.014	strong		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	27	1	0	0	0	0	1	0	0	0	11401	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1056571	196509522	1512908	120	21808										
LRCH3	84859	hgsc.bcm.edu	37	chr3	197597044	197597044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttataggtcatgcttcaccCcttcctccatctgctgcacc	5	16	3	0	rs77281724	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr3:197597044C>T	ENST00000425562.2	+	18	1887	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	LRCH3_ENST00000536618.1_Silent_p.P224P|LRCH3_ENST00000441090.2_Silent_p.P475P|LRCH3_ENST00000438796.2_Silent_p.P629P|LRCH3_ENST00000334859.4_Silent_p.P629P|LRCH3_ENST00000414675.2_Silent_p.P577P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	629						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATGCTTCACCCCTTCCTCCAT	0.443													C|||	506	0.101038	0.1596	0.0648	5008	,	,		20135	0.0069		0.1093	False		,,,				2504	0.136				p.P629P		Atlas-SNP	.											.	LRCH3	96	.	0			c.C1887T						PASS	.	C		548,3858	246.2+/-254.9	27,494,1682	129	137	134		1887	1.2	0.8	3	dbSNP_132	134	978,7622	211.4+/-252.0	52,874,3374	no	coding-synonymous	LRCH3	NM_032773.2		79,1368,5056	TT,TC,CC		11.3721,12.4376,11.733		629/713	197597044	1526,11480	2203	4300	6503	SO:0001819	synonymous_variant	84859	exon18			TTCACCCCTTCCT	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1887C>T	3.37:g.197597044C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	79	4	0.0506329	NM_032773	B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37		191	0.08745421245421245	78	0.15853658536585366	22	0.06077348066298342	6	0.01048951048951049	85	0.11213720316622691	C	3.141	-0.176262	0.06380	0.124376	0.113721	ENSG00000186001	ENST00000428136	T	0.47528	0.84	5.19	1.25	0.21368	.	0.615691	0.15074	N	0.282036	T	0.00109	0.0003	.	.	.	0.09310	P	0.99999999467511	.	.	.	.	.	.	T	0.10613	-1.0622	6	0.22706	T	0.39	-0.7417	1.8562	0.03179	0.4717:0.2482:0.1542:0.1259	.	.	.	.	S	7	ENSP00000394763:P7S	ENSP00000394763:P7S	P	+	1	0	LRCH3	199081441	0.438000	0.25602	0.807000	0.32361	0.331000	0.28603	-0.359000	0.07632	0.167000	0.19631	-0.187000	0.12897	CCT	C|0.887;T|0.113	0.113	strong		0.443	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		T	197597044	C	T	197597044	2	4	27	1	0	0	0	0	0	0	0	1	8934	610	22	2		2	LRCH3	3	197597044	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1087522	197597044	425386	121	21809										
PIGG	54872	hgsc.bcm.edu	37	chr4	520853	520853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accacaaagccgagctctctGtcctggctgccctctccctc	7	19	2	0	rs13114026	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:520853G>A	ENST00000453061.2	+	10	2201	c.2095G>A	c.(2095-2097)Gtc>Atc	p.V699I	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V566I|PIGG_ENST00000504346.1_Missense_Mutation_p.V610I|PIGG_ENST00000310340.5_Missense_Mutation_p.V691I	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	699			V -> I (in dbSNP:rs13114026). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.L689_A694delLSVLAA(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGAGCTCTCTGTCCTGGCTGC	0.552													G|||	893	0.178315	0.2413	0.0908	5008	,	,		14770	0.2054		0.1292	False		,,,				2504	0.1779				p.V699I		Atlas-SNP	.											.	PIGG	86	.	1	Deletion - In frame(1)	ovary(1)	c.G2095A						PASS	.	G	ILE/VAL,ILE/VAL	1003,3403	370.8+/-319.7	117,769,1317	62	49	53		2095,2071	3.4	0	4	dbSNP_121	53	1035,7565	219.7+/-257.6	66,903,3331	yes	missense,missense	PIGG	NM_001127178.1,NM_017733.3	29,29	183,1672,4648	AA,AG,GG		12.0349,22.7644,15.6697	benign,benign	699/984,691/976	520853	2038,10968	2203	4300	6503	SO:0001583	missense	54872	exon10			CTCTCTGTCCTGG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2095G>A	4.37:g.520853G>A	ENSP00000415203:p.Val699Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	107	13	0.121495	NM_001127178	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	396	0.1813186813186813	132	0.2682926829268293	37	0.10220994475138122	130	0.22727272727272727	97	0.1279683377308707	G	2.896	-0.228623	0.06022	0.227644	0.120349	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.09255	3.32;3.33;3.0;3.0	6.06	3.39	0.38822	.	0.669240	0.16139	N	0.227810	T	0.00012	0.0000	L	0.52011	1.625	0.58432	P	1.0000000000287557E-6	B;B;B	0.30236	0.274;0.022;0.169	B;B;B	0.30401	0.115;0.01;0.086	T	0.42932	-0.9422	9	0.12766	T	0.61	-2.4778	5.1107	0.14808	0.1524:0.0:0.5552:0.2924	rs13114026;rs59899952;rs13114026	566;699;691	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	I	691;699;610;566	ENSP00000311750:V691I;ENSP00000415203:V699I;ENSP00000424800:V610I;ENSP00000372494:V566I	ENSP00000311750:V691I	V	+	1	0	PIGG	510853	0.063000	0.20901	0.004000	0.12327	0.216000	0.24613	0.374000	0.20501	0.437000	0.26423	-0.145000	0.13849	GTC	G|0.827;A|0.173	0.173	strong		0.552	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	520853	G	A	520853	3	1	27	1	0	0	0	0	1	0	0	0	11888	1377	48	2	2133	2	PIGG	4	520853	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		520853	190633423	122	21810										
ADD1	118	hgsc.bcm.edu	37	chr4	2916762	2916762	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagaggaagcagaagggctCtgaaggtgagtgcttgtggt	19	4	1	4	rs4963	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:2916762C>G	ENST00000398129.1	+	12	1777	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ADD1_ENST00000264758.7_Missense_Mutation_p.S617C|ADD1_ENST00000398123.2_Missense_Mutation_p.S617C|ADD1_ENST00000513328.2_Missense_Mutation_p.S586C|ADD1_ENST00000355842.3_Missense_Mutation_p.S617C|ADD1_ENST00000503455.2_Missense_Mutation_p.S617C|ADD1_ENST00000446856.1_Missense_Mutation_p.S586C|ADD1_ENST00000398125.1_Missense_Mutation_p.S617C			P35611	ADDA_HUMAN	adducin 1 (alpha)	586			S -> C (in dbSNP:rs4963). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:1840603}.		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)		CAGAAGGGCTCTGAAGGTGAG	0.597													C|||	1191	0.237819	0.1702	0.1772	5008	,	,		18849	0.4524		0.1909	False		,,,				2504	0.1994				p.S617C	Esophageal Squamous(71;505 1201 20414 34538 37449)	Atlas-SNP	.											.	ADD1	56	.	0			c.C1850G						PASS	.	C	CYS/SER,CYS/SER,CYS/SER,CYS/SER	777,3629	310.2+/-291.5	61,655,1487	98	96	96		1757,1850,1757,1850	4.6	0.5	4	dbSNP_52	96	1582,7018	291.6+/-300.4	143,1296,2861	yes	missense,missense,missense,missense	ADD1	NM_001119.4,NM_014189.3,NM_014190.3,NM_176801.2	112,112,112,112	204,1951,4348	GG,GC,CC		18.3953,17.635,18.1378	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	586/738,617/769,586/632,617/663	2916762	2359,10647	2203	4300	6503	SO:0001583	missense	118	exon13			AGGGCTCTGAAGG	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.1757C>G	4.37:g.2916762C>G	ENSP00000381197:p.Ser586Cys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	103	6	0.0582524	NM_176801	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	592|592	0.27106227106227104|0.27106227106227104	82|82	0.16666666666666666|0.16666666666666666	68|68	0.1878453038674033|0.1878453038674033	288|288	0.5034965034965035|0.5034965034965035	154|154	0.20316622691292877|0.20316622691292877	C|C	11.65|11.65	1.700709|1.700709	0.30142|0.30142	0.17635|0.17635	0.183953|0.183953	ENSG00000087274|ENSG00000087274	ENST00000514940;ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.|T;T;T;T;T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.44|5.44	4.6|4.6	0.57074|0.57074	.|.	.|0.718287	.|0.13902	.|N	.|0.354858	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	P|P	0.0|0.0	.|B;B;P;B;B	.|0.50943	.|0.375;0.438;0.94;0.415;0.396	.|B;B;P;B;B	.|0.52267	.|0.345;0.401;0.694;0.163;0.195	T|T	0.50021|0.50021	-0.8876|-0.8876	4|9	.|0.42905	.|T	.|0.14	-1.6519|-1.6519	16.4208|16.4208	0.83758|0.83758	0.0:0.8683:0.1317:0.0|0.0:0.8683:0.1317:0.0	rs4963;rs52811169;rs58002748;rs4963|rs4963;rs52811169;rs58002748;rs4963	.|617;586;617;586;617	.|Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.|.;ADDA_HUMAN;.;.;.	V|C	323;32|617;586;617;586;617;617;617;586	.|ENSP00000264758:S617C;ENSP00000399828:S586C;ENSP00000381193:S617C;ENSP00000421907:S586C;ENSP00000423024:S617C;ENSP00000348100:S617C;ENSP00000381191:S617C;ENSP00000381197:S586C	.|ENSP00000264758:S617C	L|S	+|+	1|2	2|0	ADD1|ADD1	2886560|2886560	0.007000|0.007000	0.16637|0.16637	0.533000|0.533000	0.28001|0.28001	0.724000|0.724000	0.41520|0.41520	1.284000|1.284000	0.33249|0.33249	1.306000|1.306000	0.44926|0.44926	-0.217000|-0.217000	0.12591|0.12591	CTG|TCT	C|0.773;G|0.227;N|0.000	0.227	strong		0.597	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		G	2916762	C	G	2916762	3	3	27	1	0	0	0	0	1	0	0	0	304	913	32	4	1896	4	ADD1	4	2916762	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2395909	2916762	188237514	123	21811										
HTT	3064	hgsc.bcm.edu	37	chr4	3162056	3162056	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaaaagtttggagggtttctCcgctcagccttggatgttct	12	8	3	0	rs363099	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:3162056C>T	ENST00000355072.5	+	29	3946	c.3801C>T	c.(3799-3801)ctC>ctT	p.L1267L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1267					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGGGTTTCTCCGCTCAGCCT	0.507													C|||	1071	0.213858	0.0113	0.2882	5008	,	,		19711	0.3442		0.3121	False		,,,				2504	0.1994				p.L1267L		Atlas-SNP	.											HTT,NS,carcinoma,0,1	HTT	221	1	0			c.C3801T						PASS	.	C		256,3662		16,224,1719	171	165	167		3801	0.1	1	4	dbSNP_79	167	2331,5887		331,1669,2109	no	coding-synonymous	HTT	NM_002111.6		347,1893,3828	TT,TC,CC		28.3646,6.5339,21.3167		1267/3143	3162056	2587,9549	1959	4109	6068	SO:0001819	synonymous_variant	3064	exon29			GTTTCTCCGCTCA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3801C>T	4.37:g.3162056C>T		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	144	6	0.0416667	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																			T|0.148;G|0.337	0.148	strong		0.507	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3162056	C	T	3162056	2	4	27	1	0	0	0	0	0	0	0	1	7457	842	30	2		2	HTT	4	3162056	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	245294	3162056	187992220	124	21812										
HTT	3064	hgsc.bcm.edu	37	chr4	3227419	3227419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agccacgagaagctgctgctAcagatcaaccccgagcggga	12	13	1	2	rs362273	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:3227419A>G	ENST00000355072.5	+	57	7942	c.7797A>G	c.(7795-7797)ctA>ctG	p.L2599L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2599					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTGCTGCTACAGATCAACC	0.647													G|||	1234	0.246406	0.1218	0.304	5008	,	,		14498	0.3393		0.3191	False		,,,				2504	0.2035				p.L2599L		Atlas-SNP	.											HTT,caecum,carcinoma,0,1	HTT	221	1	0			c.A7797G						scavenged	.	G		636,3396		56,524,1436	28	32	31		7797	3.1	1	4	dbSNP_79	31	2492,5908		355,1782,2063	no	coding-synonymous	HTT	NM_002111.6		411,2306,3499	GG,GA,AA		29.6667,15.7738,25.1609		2599/3143	3227419	3128,9304	2016	4200	6216	SO:0001819	synonymous_variant	3064	exon57			GCTGCTACAGATC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7797A>G	4.37:g.3227419A>G		Somatic	173	1	0.00578035		WXS	Illumina HiSeq	Phase_I	170	5	0.0294118	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																			A|0.737;G|0.263	0.263	strong		0.647	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3227419	A	G	3227419	2	3	27	1	0	0	0	0	0	0	0	1	7457	378	14	2		2	HTT	4	3227419	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	65363	3227419	187926857	125	21813										
DOK7	285489	hgsc.bcm.edu	37	chr4	3494898	3494898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcccgggacagtcgagtaCcaggtgcccacctccctgcg	12	17	0	0	rs6850908	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:3494898C>T	ENST00000340083.5	+	7	1250	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Silent_p.Y395Y	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	395					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGTCGAGTACCAGGTGCCCA	0.692													.|||	1100	0.219649	0.0386	0.1441	5008	,	,		14813	0.502		0.2237	False		,,,				2504	0.2229				p.Y395Y		Atlas-SNP	.											DOK7,NS,carcinoma,0,1	DOK7	44	1	0			c.C1185T						PASS	.	C	,	291,4089		15,261,1914	15	15	15		,1185	2.8	1	4	dbSNP_116	15	1780,6802		194,1392,2705	yes	utr-3,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	209,1653,4619	TT,TC,CC		20.7411,6.6438,15.9775	,	,395/505	3494898	2071,10891	2190	4291	6481	SO:0001819	synonymous_variant	285489	exon7			CGAGTACCAGGTG	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1185C>T	4.37:g.3494898C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_173660	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			C|0.794;T|0.206	0.206	strong		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		T	3494898	C	T	3494898	2	4	27	1	0	0	0	0	0	0	0	1	4702	518	18	2		2	DOK7	4	3494898	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	267479	3494898	187659378	126	21814										
MSX1	4487	hgsc.bcm.edu	37	chr4	4861745	4861745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagcgccgccgcggccacggCagccgccatgggcgcggacg	17	18	0	0	rs36059701	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:4861745C>G	ENST00000382723.4	+	1	353	c.119C>G	c.(118-120)gCa>gGa	p.A40G		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	40	Poly-Ala.				activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		gcggccACGGCAGCCGCCATG	0.716													C|||	519	0.103634	0.0893	0.1037	5008	,	,		6085	0.0565		0.165	False		,,,				2504	0.1084				p.A40G		Atlas-SNP	.											MSX1,NS,carcinoma,0,1	MSX1	19	1	0			c.C119G	GRCh37	CM045070	MSX1	M	rs36059701	scavenged	.	C	GLY/ALA	241,2261		15,211,1025	3	4	4		119	2.9	0.4	4	dbSNP_126	4	677,4129		58,561,1784	no	missense	MSX1	NM_002448.3	60	73,772,2809	GG,GC,CC		14.0866,9.6323,12.5616	benign	40/304	4861745	918,6390	1251	2403	3654	SO:0001583	missense	4487	exon1			CCACGGCAGCCGC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.119C>G	4.37:g.4861745C>G	ENSP00000372170:p.Ala40Gly	Somatic	5	1	0.2		WXS	Illumina HiSeq	Phase_I	10	8	0.8	NM_002448	A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	CCDS3378.2	290	0.13278388278388278	53	0.10772357723577236	45	0.12430939226519337	44	0.07692307692307693	148	0.19525065963060687	C	6.955	0.546124	0.13312	0.096323	0.140866	ENSG00000163132	ENST00000382723	D	0.95885	-3.84	4.66	2.92	0.33932	.	0.650131	0.15386	N	0.265060	T	0.00552	0.0018	N	0.24115	0.695	0.51767	P	6.20000000000065E-5	B	0.16166	0.016	B	0.15870	0.014	T	0.44003	-0.9356	9	0.11182	T	0.66	-4.3518	5.025	0.14379	0.1663:0.6515:0.0:0.1822	rs36059701	34	P28360	MSX1_HUMAN	G	40	ENSP00000372170:A40G	ENSP00000372170:A40G	A	+	2	0	MSX1	4912646	0.996000	0.38824	0.367000	0.25926	0.047000	0.14425	0.572000	0.23684	0.390000	0.25115	0.491000	0.48974	GCA	C|0.868;G|0.132	0.132	strong		0.716	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			G	4861745	C	G	4861745	3	3	27	1	0	0	0	0	1	0	0	0	9895	710	25	4	121	4	MSX1	4	4861745	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1366847	4861745	186292531	127	21815										
WFS1	7466	hgsc.bcm.edu	37	chr4	6293696	6293696	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccctgcagaagcagaggcgCatgctggagcgcctggtcag	15	12	1	2	rs1801213	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:6293696C>G	ENST00000226760.1	+	6	854	c.684C>G	c.(682-684)cgC>cgG	p.R228R	WFS1_ENST00000503569.1_Silent_p.R228R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGCAGAGGCGCATGCTGGAGC	0.642													G|||	3788	0.75639	0.6959	0.7378	5008	,	,		16959	0.9038		0.6849	False		,,,				2504	0.773				p.R228R		Atlas-SNP	.											WFS1,NS,carcinoma,0,1	WFS1	71	1	0			c.C684G						scavenged	.	G	,	2938,1454		985,968,243	47	40	42		684,684	1.5	1	4	dbSNP_89	42	5870,2728		1999,1872,428	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	2984,2840,671	GG,GC,CC		31.7283,33.1056,32.194	,	228/891,228/891	6293696	8808,4182	2196	4299	6495	SO:0001819	synonymous_variant	7466	exon6			GAGGCGCATGCTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.684C>G	4.37:g.6293696C>G		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	199	6	0.0301508	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1	1662	0.760989010989011	345	0.7012195121951219	266	0.7348066298342542	536	0.9370629370629371	515	0.679419525065963	G	10.35	1.324588	0.24080	0.668944	0.682717	ENSG00000109501	ENST00000506362	.	.	.	4.37	1.53	0.23141	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999124776	.	.	.	.	.	.	T	0.18335	-1.0340	3	.	.	.	-44.9845	6.9398	0.24486	0.2177:0.2494:0.5329:0.0	rs1801213;rs2230718;rs7672995	.	.	.	G	94	.	.	A	+	2	0	WFS1	6344597	0.811000	0.29063	0.994000	0.49952	0.974000	0.67602	-0.097000	0.11042	0.069000	0.16605	-0.216000	0.12614	GCA	C|0.294;G|0.706	0.706	strong		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			G	6293696	C	G	6293696	2	3	27	1	0	0	0	0	0	0	0	1	17357	697	25	4		4	WFS1	4	6293696	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1431951	6293696	184860580	128	21816										
SLC2A9	56606	hgsc.bcm.edu	37	chr4	9998493	9998493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cacagtcacagaccagagcaAagtcagagtgtctgggtcta	11	10	4	3	rs13113918	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:9998493A>G	ENST00000264784.3	-	3	375	c.322T>C	c.(322-324)Ttg>Ctg	p.L108L	SLC2A9_ENST00000506583.1_Silent_p.L79L|SLC2A9_ENST00000309065.3_Silent_p.L79L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	108					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GACCAGAGCAAAGTCAGAGTG	0.448													G|||	4110	0.820687	0.7784	0.7219	5008	,	,		20309	0.9722		0.8002	False		,,,				2504	0.8129				p.L108L		Atlas-SNP	.											.	SLC2A9	158	.	0			c.T322C						PASS	.	G	,	3421,985	369.3+/-319.0	1329,763,111	155	134	141		235,322	5.2	0.9	4	dbSNP_121	141	6754,1846	330.6+/-319.3	2651,1452,197	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	3980,2215,308	GG,GA,AA		21.4651,22.3559,21.7669	,	79/512,108/541	9998493	10175,2831	2203	4300	6503	SO:0001819	synonymous_variant	56606	exon3			AGAGCAAAGTCAG	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.322T>C	4.37:g.9998493A>G		Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	196	9	0.0459184	NM_020041	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																			A|0.196;G|0.804	0.804	strong		0.448	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			G	9998493	A	G	9998493	2	3	27	1	0	0	0	0	0	0	0	1	14552	11	1	2		2	SLC2A9	4	9998493	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3704797	9998493	181155783	129	21817										
BST1	683	hgsc.bcm.edu	37	chr4	15733454	15733454	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctttctggtgctggcttccAggactcaactgtaactggaa	10	10	3	0	rs1058212	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:15733454A>C	ENST00000265016.4	+	9	1138	c.943A>C	c.(943-945)Agg>Cgg	p.R315R	BST1_ENST00000382346.3_Silent_p.R330R	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	315					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.R315R(2)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GCTGGCTTCCAGGACTCAACT	0.493													G|||	931	0.185903	0.115	0.0951	5008	,	,		16685	0.502		0.0308	False		,,,				2504	0.18				p.R315R		Atlas-SNP	.											BST1,colon,carcinoma,0,3	BST1	30	3	2	Substitution - coding silent(2)	stomach(1)|central_nervous_system(1)	c.A943C						scavenged	.	G		506,3900		26,454,1723	55	52	53		943	4	0	4	dbSNP_86	53	260,8340		3,254,4043	no	coding-synonymous	BST1	NM_004334.2		29,708,5766	CC,CA,AA		3.0233,11.4843,5.8896		315/319	15733454	766,12240	2203	4300	6503	SO:0001819	synonymous_variant	683	exon9			GCTTCCAGGACTC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.943A>C	4.37:g.15733454A>C		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	160	4	0.025	NM_004334	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	ENST00000265016.4	37	CCDS3416.1																																																																																			A|0.883;C|0.117	0.117	strong		0.493	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		C	15733454	A	C	15733454	2	2	27	1	0	0	0	0	0	0	0	1	1533	179	7	5		5	BST1	4	15733454	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5734961	15733454	175420822	130	21818										
TAPT1	202018	hgsc.bcm.edu	37	chr4	16188159	16188159	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agaatctaattgtacataccGctatttgacatttgaaagag	7	6	1	4			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:16188159G>T	ENST00000405303.2	-	7	998	c.915C>A	c.(913-915)agC>agA	p.S305R	TAPT1_ENST00000399920.3_Splice_Site_p.S194R|TAPT1_ENST00000304584.8_Splice_Site_p.S86R|TAPT1_ENST00000508888.1_5'Flank	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	305					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGTACATACCGCTATTTGACA	0.328																																					p.S305R		Atlas-SNP	.											TAPT1,NS,carcinoma,0,2	TAPT1	31	2	0			c.C915A						scavenged	.						90	84	86					4																	16188159		1787	3967	5754	SO:0001630	splice_region_variant	202018	exon7			CATACCGCTATTT	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.916+1C>A	4.37:g.16188159G>T		Somatic	399	2	0.00501253		WXS	Illumina HiSeq	Phase_I	404	5	0.0123762	NM_153365	Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148486	0.37923	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920;ENST00000304584	T;T	0.35973	1.28;1.32	5.46	-5.08	0.02929	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.81341	2.54	0.80722	D	1	D	0.56287	0.975	P	0.57009	0.811	T	0.60637	-0.7224	10	0.59425	D	0.04	-0.0368	15.2372	0.73441	0.6607:0.0:0.3393:0.0	.	305	Q6NXT6	TAPT1_HUMAN	R	305;305;194;86	ENSP00000385347:S305R;ENSP00000382803:S194R	ENSP00000305198:S86R	S	-	3	2	TAPT1	15797257	0.397000	0.25270	0.874000	0.34290	0.261000	0.26267	-0.109000	0.10840	-1.280000	0.02402	-1.974000	0.00461	AGC	.	.	none		0.328	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Missense_Mutation	T	16188159	G	T	16188159	5	4	27	1	0	0	0	0	0	0	1	0	15551	1101	38	4	820	4	TAPT1	4	16188159	Splice_Site	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	454705	16188159	174966117	131	21819										
LAP3	51056	hgsc.bcm.edu	37	chr4	17586703	17586703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgacgccaaccagatttgcTgaaattattgagaagaatct	8	7	1	5	rs3733576	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:17586703T>C	ENST00000226299.4	+	6	922	c.648T>C	c.(646-648)gcT>gcC	p.A216A	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.A185A	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	216					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CCAGATTTGCTGAAATTATTG	0.468													t|||	3828	0.764377	0.8396	0.7637	5008	,	,		19653	0.9018		0.659	False		,,,				2504	0.6299				p.A216A		Atlas-SNP	.											.	LAP3	50	.	0			c.T648C						PASS	.	C		3622,784	752.5+/-412.3	1491,640,72	103	103	103		648	-9.5	0	4	dbSNP_107	103	5452,3148	655.8+/-401.3	1712,2028,560	no	coding-synonymous	LAP3	NM_015907.2		3203,2668,632	CC,CT,TT		36.6047,17.7939,30.2322		216/520	17586703	9074,3932	2203	4300	6503	SO:0001819	synonymous_variant	51056	exon6			ATTTGCTGAAATT	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.648T>C	4.37:g.17586703T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	99	7	0.0707071	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	CCDS3422.1																																																																																			T|0.266;C|0.734	0.734	strong		0.468	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			C	17586703	T	C	17586703	2	2	27	1	0	0	0	0	0	0	0	1	8623	1567	55	3		3	LAP3	4	17586703	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1398544	17586703	173567573	132	21820										
PPARGC1A	10891	hgsc.bcm.edu	37	chr4	23815522	23815522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgaacaatgaataggattgCgtgccatcccaagggtagct	11	8	0	2	rs3755863	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:23815522C>T	ENST00000264867.2	-	8	1703	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	528	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATAGGATTGCGTGCCATCCC	0.408													C|||	1764	0.352236	0.239	0.3343	5008	,	,		19235	0.4454		0.4284	False		,,,				2504	0.3436				p.T528T	Esophageal Squamous(29;694 744 13796 34866 44181)	Atlas-SNP	.											PPARGC1A,colon,carcinoma,0,1	PPARGC1A	129	1	0			c.G1584A	GRCh37	CM035706	PPARGC1A	M	rs3755863	PASS	.	C		1052,3354	384.2+/-325.2	120,812,1271	145	138	140		1584	3.2	1	4	dbSNP_107	140	3512,5088	512.9+/-378.0	695,2122,1483	no	coding-synonymous	PPARGC1A	NM_013261.3		815,2934,2754	TT,TC,CC		40.8372,23.8765,35.0915		528/799	23815522	4564,8442	2203	4300	6503	SO:0001819	synonymous_variant	10891	exon8			GGATTGCGTGCCA	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1584G>A	4.37:g.23815522C>T		Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	152	7	0.0460526	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																			C|0.640;T|0.360	0.360	strong		0.408	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23815522	C	T	23815522	2	4	27	1	0	0	0	0	0	0	0	1	12300	755	27	1		1	PPARGC1A	4	23815522	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	6228819	23815522	167338754	133	21821										
TBC1D1	23216	hgsc.bcm.edu	37	chr4	38016395	38016395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cacagggagccaggagcctgTgcgcaggcccatgcgcaagt	15	13	0	0	rs10501	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:38016395T>G	ENST00000261439.4	+	3	1038	c.683T>G	c.(682-684)gTg>gGg	p.V228G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V228G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	228			V -> G (in dbSNP:rs10501).		membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAGGAGCCTGTGCGCAGGCCC	0.692													G|||	2897	0.578474	0.6422	0.487	5008	,	,		11341	0.7093		0.4284	False		,,,				2504	0.5767				p.V228G		Atlas-SNP	.											TBC1D1,NS,carcinoma,0,1	TBC1D1	94	1	0			c.T683G						PASS	.	G	GLY/VAL	2525,1759		779,967,396	12	15	14		683	0.3	0	4	dbSNP_52	14	3573,4971		790,1993,1489	no	missense	TBC1D1	NM_015173.2	109	1569,2960,1885	GG,GT,TT		41.8188,41.0598,47.5366	benign	228/1169	38016395	6098,6730	2142	4272	6414	SO:0001583	missense	23216	exon3			AGCCTGTGCGCAG	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.683T>G	4.37:g.38016395T>G	ENSP00000261439:p.Val228Gly	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	85	4	0.0470588	NM_015173	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	1227	0.5618131868131868	307	0.6239837398373984	174	0.48066298342541436	426	0.7447552447552448	320	0.42216358839050133	G	0.134	-1.110455	0.01813	0.589402	0.418188	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.17213	3.65;4.04;2.29	5.22	0.314	0.15847	Phosphotyrosine interaction domain (1);	0.609127	0.15462	N	0.261076	T	0.00012	0.0000	N	0.08118	0	0.51012	P	9.40000000000385E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12293	-1.0553	9	0.22109	T	0.4	-0.0107	4.0723	0.09887	0.0774:0.1785:0.3923:0.3518	rs10501;rs3188894;rs13113776;rs58439251	228;228;228	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	G	228;228;99	ENSP00000423651:V228G;ENSP00000261439:V228G;ENSP00000396877:V99G	ENSP00000261439:V228G	V	+	2	0	TBC1D1	37692790	0.138000	0.22547	0.000000	0.03702	0.023000	0.10783	1.416000	0.34759	-0.122000	0.11766	-0.323000	0.08544	GTG	T|0.448;G|0.552	0.552	strong		0.692	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		G	38016395	T	G	38016395	3	3	27	1	0	0	0	0	1	0	0	0	15594	1696	59	5	689	5	TBC1D1	4	38016395	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	14200873	38016395	153137881	134	21822										
TLR1	7096	hgsc.bcm.edu	37	chr4	38798935	38798935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagctctggaagaaatcagcCgatgggtgggaaactgaatt	13	7	2	2	rs5743614	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:38798935C>T	ENST00000502213.2	-	3	1747	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Silent_p.S506S			Q15399	TLR1_HUMAN	toll-like receptor 1	506					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAAATCAGCCGATGGGTGGG	0.418													c|||	2802	0.559505	0.8404	0.4654	5008	,	,		18263	0.5992		0.2744	False		,,,				2504	0.499				p.S506S	GBM(5;216 373 40795 46382)	Atlas-SNP	.											TLR1,NS,carcinoma,-1,1	TLR1	70	1	0			c.G1518A						scavenged	.						75	79	78					4																	38798935		2202	4280	6482	SO:0001819	synonymous_variant	7096	exon4			ATCAGCCGATGGG	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1518G>A	4.37:g.38798935C>T		Somatic	163	1	0.00613497		WXS	Illumina HiSeq	Phase_I	198	8	0.040404	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	CCDS33973.1																																																																																			C|0.575;T|0.425	0.425	strong		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38798935	C	T	38798935	2	4	27	1	0	0	0	0	0	0	0	1	15946	639	23	1		1	TLR1	4	38798935	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	782540	38798935	152355341	135	21823										
KLHL5	51088	hgsc.bcm.edu	37	chr4	39116911	39116911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggacaggcataccttaatacTgtggaggcttatgatcccca	10	10	0	1	rs3733276	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:39116911T>C	ENST00000504108.1	+	10	2455	c.2172T>C	c.(2170-2172)acT>acC	p.T724T	KLHL5_ENST00000261426.5_Silent_p.T663T|KLHL5_ENST00000381930.3_Silent_p.T724T|KLHL5_ENST00000359687.2_Silent_p.T724T|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261425.3_Silent_p.T678T|KLHL5_ENST00000508137.2_Silent_p.T537T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	724						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCTTAATACTGTGGAGGCTT	0.418													C|||	2467	0.492612	0.3411	0.5965	5008	,	,		15980	0.495		0.5765	False		,,,				2504	0.5348				p.T724T		Atlas-SNP	.											.	KLHL5	75	.	0			c.T2172C						PASS	.	C	,,,	1725,2681	651.6+/-399.3	332,1061,810	104	94	97		2034,1611,2172,1989	-3.4	0.9	4	dbSNP_107	97	5039,3561	517.0+/-379.0	1490,2059,751	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL5	NM_001007075.2,NM_001171654.1,NM_015990.4,NM_199039.3	,,,	1822,3120,1561	CC,CT,TT		41.407,39.1512,47.9932	,,,	678/710,537/569,724/756,663/695	39116911	6764,6242	2203	4300	6503	SO:0001819	synonymous_variant	51088	exon10			TAATACTGTGGAG	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2172T>C	4.37:g.39116911T>C		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	195	10	0.0512821	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	CCDS33974.1	1173	0.5370879120879121	203	0.41260162601626016	227	0.6270718232044199	295	0.5157342657342657	448	0.5910290237467019	C	7.776	0.708499	0.15239	0.391512	0.58593	ENSG00000109790	ENST00000515612	.	.	.	6.06	-3.44	0.04796	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.44967	-0.9293	3	.	.	.	.	0.6333	0.00798	0.2383:0.1979:0.2894:0.2744	rs3733276;rs17430718;rs3733276	.	.	.	R	236	.	.	C	+	1	0	KLHL5	38793306	0.012000	0.17670	0.901000	0.35422	0.859000	0.49053	-0.788000	0.04614	-0.927000	0.03766	-1.068000	0.02270	TGT	T|0.472;C|0.528	0.528	strong		0.418	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			C	39116911	T	C	39116911	2	2	27	1	0	0	0	0	0	0	0	1	8392	1567	55	3		3	KLHL5	4	39116911	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	317976	39116911	152037365	136	21824										
N4BP2	55728	hgsc.bcm.edu	37	chr4	40138676	40138676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgagaatgtcacatctcatActggccagaagtctaaagag	9	8	3	3	rs2271395	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:40138676A>G	ENST00000261435.6	+	14	5175	c.4759A>G	c.(4759-4761)Act>Gct	p.T1587A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1587			T -> A (in dbSNP:rs2271395).		nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CACATCTCATACTGGCCAGAA	0.343													A|||	644	0.128594	0.0076	0.0403	5008	,	,		16869	0.3998		0.0517	False		,,,				2504	0.1544				p.T1587A		Atlas-SNP	.											.	N4BP2	166	.	0			c.A4759G						PASS	.	A	ALA/THR	85,4321	73.6+/-111.7	0,85,2118	73	72	72		4759	2.9	1	4	dbSNP_100	72	395,8205	127.2+/-185.5	14,367,3919	yes	missense	N4BP2	NM_018177.4	58	14,452,6037	GG,GA,AA		4.593,1.9292,3.6906	benign	1587/1771	40138676	480,12526	2203	4300	6503	SO:0001583	missense	55728	exon14			TCTCATACTGGCC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4759A>G	4.37:g.40138676A>G	ENSP00000261435:p.Thr1587Ala	Somatic	419	0	0		WXS	Illumina HiSeq	Phase_I	470	19	0.0404255	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	317|317	0.14514652014652016|0.14514652014652016	5|5	0.01016260162601626|0.01016260162601626	16|16	0.04419889502762431|0.04419889502762431	260|260	0.45454545454545453|0.45454545454545453	36|36	0.047493403693931395|0.047493403693931395	A|A	9.740|9.740	1.164654|1.164654	0.21538|0.21538	0.019292|0.019292	0.04593|0.04593	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.17691|.	2.26|.	5.41|5.41	2.91|2.91	0.33838|0.33838	.|.	0.397696|.	0.24141|.	N|.	0.041178|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.44927|0.44927	P|P	0.002055000000000029|0.002055000000000029	B;B|.	0.33171|.	0.4;0.278|.	B;B|.	0.33960|.	0.173;0.084|.	T|T	0.48536|0.48536	-0.9027|-0.9027	9|4	0.33940|.	T|.	0.23|.	-12.4649|-12.4649	5.2482|5.2482	0.15508|0.15508	0.6522:0.0:0.0747:0.2731|0.6522:0.0:0.0747:0.2731	rs2271395;rs52816843;rs2271395|rs2271395;rs52816843;rs2271395	1587;1587|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	A|C	1587;1507|1233	ENSP00000261435:T1587A|.	ENSP00000261435:T1587A|.	T|Y	+|+	1|2	0|0	N4BP2|N4BP2	39815071|39815071	0.313000|0.313000	0.24554|0.24554	0.994000|0.994000	0.49952|0.49952	0.462000|0.462000	0.32619|0.32619	1.060000|1.060000	0.30530|0.30530	0.329000|0.329000	0.23460|0.23460	0.460000|0.460000	0.39030|0.39030	ACT|TAC	A|0.918;G|0.082	0.082	strong		0.343	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		G	40138676	A	G	40138676	3	3	27	1	0	0	0	0	1	0	0	0	10110	391	14	2	4805	2	N4BP2	4	40138676	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1021765	40138676	151015600	137	21825										
REST	5978	hgsc.bcm.edu	37	chr4	57798189	57798189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaagccttggcagtcaaagcGgctaagggagattttgtttg	14	6	1	1	rs2227901	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:57798189G>A	ENST00000309042.7	+	4	3479	c.3165G>A	c.(3163-3165)gcG>gcA	p.A1055A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1055	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGTCAAAGCGGCTAAGGGAG	0.433													G|||	1270	0.253594	0.2595	0.2161	5008	,	,		20278	0.3661		0.1849	False		,,,				2504	0.227				p.A1055A		Atlas-SNP	.											.	REST	104	.	0			c.G3165A						PASS	.	G	,	1041,3365	384.9+/-325.5	111,819,1273	80	77	78		3165,3165	1.1	0	4	dbSNP_98	78	1641,6959	303.6+/-306.5	143,1355,2802	no	coding-synonymous,coding-synonymous	REST	NM_001193508.1,NM_005612.4	,	254,2174,4075	AA,AG,GG		19.0814,23.6269,20.6213	,	1055/1098,1055/1098	57798189	2682,10324	2203	4300	6503	SO:0001819	synonymous_variant	5978	exon4			CAAAGCGGCTAAG	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3165G>A	4.37:g.57798189G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	174	11	0.0632184	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	CCDS3509.1																																																																																			G|0.791;A|0.209	0.209	strong		0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		A	57798189	G	A	57798189	2	1	27	1	0	0	0	0	0	0	0	1	13234	1103	39	1		1	REST	4	57798189	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17659513	57798189	133356087	138	21826										
CENPC1	1060	hgsc.bcm.edu	37	chr4	68380215	68380215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcttgactttctaccttgaaGgagtgcagtgctctcagccg	10	11	3	2	rs11250	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:68380215G>A	ENST00000273853.6	-	8	1271	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	341			L -> F (in dbSNP:rs11250). {ECO:0000269|PubMed:1339310, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18669648, ECO:0000269|Ref.3}.		chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CTACCTTGAAGGAGTGCAGTG	0.423													G|||	3509	0.700679	0.6195	0.7536	5008	,	,		15463	0.8274		0.6252	False		,,,				2504	0.7198				p.L341F		Atlas-SNP	.											.	CENPC1	66	.	0			c.C1021T						PASS	.	G	PHE/LEU	2383,1395		748,887,254	91	84	86		1021	2.5	0	4	dbSNP_52	86	4963,3267		1501,1961,653	no	missense	CENPC1	NM_001812.2	22	2249,2848,907	AA,AG,GG		39.6962,36.9243,38.8241	probably-damaging	341/944	68380215	7346,4662	1889	4115	6004	SO:0001583	missense	1060	exon8			CTTGAAGGAGTGC	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1021C>T	4.37:g.68380215G>A	ENSP00000273853:p.Leu341Phe	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	154	8	0.0519481	NM_001812	Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	1502	0.6877289377289377	305	0.6199186991869918	266	0.7348066298342542	467	0.8164335664335665	464	0.6121372031662269	G	13.09	2.133139	0.37630	0.630757	0.603038	ENSG00000145241	ENST00000273853	.	.	.	4.33	2.53	0.30540	.	0.867721	0.09737	N	0.762418	T	0.00012	0.0000	L	0.32530	0.975	0.80722	P	0.0	D	0.55385	0.971	P	0.50440	0.641	T	0.41197	-0.9522	8	0.10111	T	0.7	0.442	4.5934	0.12319	0.1122:0.0:0.6679:0.2199	rs11250;rs3197405;rs17017002;rs17554462;rs17854082;rs60532044;rs11250	341	Q03188	CENPC_HUMAN	F	341	.	ENSP00000273853:L341F	L	-	1	0	CENPC1	68062810	0.006000	0.16342	0.001000	0.08648	0.014000	0.08584	0.538000	0.23160	1.121000	0.41925	0.655000	0.94253	CTT	G|0.299;A|0.701	0.701	strong		0.423	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			A	68380215	G	A	68380215	3	1	27	1	0	0	0	0	1	0	0	0	3229	1000	35	2	1858	2	CENPC1	4	68380215	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	10582026	68380215	122774061	139	21827										
CENPC1	1060	hgsc.bcm.edu	37	chr4	68384008	68384008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggttttctttcttgtccttcCgatgttttatcctcttcatc	5	11	4	0	rs355510	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:68384008C>T	ENST00000273853.6	-	7	946	c.696G>A	c.(694-696)tcG>tcA	p.S232S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	232					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CTTGTCCTTCCGATGTTTTAT	0.294													T|||	3527	0.704273	0.6316	0.7565	5008	,	,		15873	0.8274		0.6252	False		,,,				2504	0.7198				p.S232S		Atlas-SNP	.											.	CENPC1	66	.	0			c.G696A						PASS	.	T		2265,1305		744,777,264	48	42	43		696	1.2	0	4	dbSNP_79	43	4795,3291		1461,1873,709	no	coding-synonymous	CENPC1	NM_001812.2		2205,2650,973	TT,TC,CC		40.7,36.5546,39.4303		232/944	68384008	7060,4596	1785	4043	5828	SO:0001819	synonymous_variant	1060	exon7			TCCTTCCGATGTT	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.696G>A	4.37:g.68384008C>T		Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	155	7	0.0451613	NM_001812	Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	CCDS47063.1																																																																																			C|0.352;T|0.648	0.648	strong		0.294	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			T	68384008	C	T	68384008	2	4	27	1	0	0	0	0	0	0	0	1	3229	639	23	1		1	CENPC1	4	68384008	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3793	68384008	122770268	140	21828										
UGT2B7	7364	hgsc.bcm.edu	37	chr4	69962449	69962449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgatcccaacaactcatccGctcttaaaattgaaatttat	3	10	2	2	rs12233719	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:69962449G>T	ENST00000508661.1	+	1	238	c.211G>T	c.(211-213)Gct>Tct	p.A71S	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.A71S			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	71			A -> S (in dbSNP:rs12233719).		androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CAACTCATCCGCTCTTAAAAT	0.378													G|||	149	0.0297524	0.0008	0.0058	5008	,	,		18847	0.1319		0.004	False		,,,				2504	0.0072				p.A71S		Atlas-SNP	.											.	UGT2B7	79	.	0			c.G211T	GRCh37	CM077880	UGT2B7	M	rs12233719	PASS	.	G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	70	76	74		211	-3.9	0	4	dbSNP_120	74	3,8593	3.7+/-12.6	0,3,4295	yes	missense	UGT2B7	NM_001074.2	99	0,4,6497	TT,TG,GG		0.0349,0.0227,0.0308	benign	71/530	69962449	4,12998	2203	4298	6501	SO:0001583	missense	7364	exon1			TCATCCGCTCTTA	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.211G>T	4.37:g.69962449G>T	ENSP00000427659:p.Ala71Ser	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	169	7	0.0414201	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		86	0.039377289377289376	1	0.0020325203252032522	4	0.011049723756906077	76	0.13286713286713286	5	0.006596306068601583	G	1.462	-0.562049	0.03939	2.27E-4	3.49E-4	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.62232	0.04;0.04	2.54	-3.88	0.04205	.	0.292897	0.27012	U	0.021361	T	0.00440	0.0014	N	0.12887	0.27	0.09310	N	1	B;B	0.25809	0.135;0.119	B;B	0.42653	0.394;0.142	T	0.25847	-1.0120	9	.	.	.	.	1.1215	0.01725	0.3155:0.1491:0.3838:0.1516	rs12233719;rs52806684;rs58730779;rs12233719	71;71	E9PBP8;P16662	.;UD2B7_HUMAN	S	71	ENSP00000304811:A71S;ENSP00000427659:A71S	.	A	+	1	0	UGT2B7	69997038	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.559000	0.02162	-1.439000	0.01962	-1.806000	0.00616	GCT	A|0.000;G|0.986;T|0.013	0.013	strong		0.378	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		T	69962449	G	T	69962449	3	4	27	1	0	0	0	0	1	0	0	0	16959	1087	38	4	213	4	UGT2B7	4	69962449	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1578441	69962449	121191827	141	21829										
UGT2B11	10720	hgsc.bcm.edu	37	chr4	70070366	70070366	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagctctggtttttggatgAcctaggattggatgaatttt	11	4	1	2	rs144106768	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:70070366A>T	ENST00000446444.1	-	5	1100	c.1092T>A	c.(1090-1092)ggT>ggA	p.G364G	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	364					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTTGGATGACCTAGGATTG	0.378													.|||	272	0.0543131	0.0408	0.0115	5008	,	,		19330	0.1885		0.004	False		,,,				2504	0.0164				p.G364G		Atlas-SNP	.											.	UGT2B11	92	.	0			c.T1092A						PASS	.	A		111,4059		1,109,1975	37	40	39		1092	2	1	4	dbSNP_134	39	2,8182		0,2,4090	no	coding-synonymous-near-splice	UGT2B11	NM_001073.1		1,111,6065	TT,TA,AA		0.0244,2.6619,0.9147		364/530	70070366	113,12241	2085	4092	6177	SO:0001630	splice_region_variant	10720	exon5			TGGATGACCTAGG	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1091-1T>A	4.37:g.70070366A>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	161	11	0.068323	NM_001073	Q3KNV9	Silent	SNP	ENST00000446444.1	37	CCDS3527.1																																																																																			.	.	weak		0.378	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	Silent	T	70070366	A	T	70070366	5	4	27	1	0	0	0	0	0	0	1	0	16954	289	10	5	505	5	UGT2B11	4	70070366	Splice_Site	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	107917	70070366	121083910	142	21830										
PRKG2	5593	hgsc.bcm.edu	37	chr4	82031675	82031675	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaagtcatgtcccttgttgaGaatgacttcaggagctacat	10	8	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:82031675G>T	ENST00000395578.1	-	15	1983	c.1867C>A	c.(1867-1869)Ctc>Atc	p.L623I	PRKG2_ENST00000545647.1_Missense_Mutation_p.L203I|PRKG2_ENST00000264399.1_Missense_Mutation_p.L623I|PRKG2_ENST00000418486.2_Missense_Mutation_p.L594I|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCCTTGTTGAGAATGACTTCA	0.438																																					p.L623I		Atlas-SNP	.											.	PRKG2	195	.	0			c.C1867A						PASS	.						124	121	122					4																	82031675		2203	4300	6503	SO:0001583	missense	5593	exon14			TGTTGAGAATGAC	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1867C>A	4.37:g.82031675G>T	ENSP00000378945:p.Leu623Ile	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417180	0.62511	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.23	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060084	0.64402	D	0.000002	T	0.77731	0.4174	M	0.66297	2.02	0.58432	D	0.999998	D;D	0.76494	0.999;0.993	D;D	0.77004	0.984;0.989	T	0.78730	-0.2090	10	0.72032	D	0.01	-12.3911	9.7878	0.40686	0.1593:0.0:0.8407:0.0	.	594;623	E7EPE6;Q13237	.;KGP2_HUMAN	I	623;623;594;203	ENSP00000378945:L623I;ENSP00000264399:L623I;ENSP00000389038:L594I;ENSP00000439967:L203I	ENSP00000264399:L623I	L	-	1	0	PRKG2	82250699	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.122000	0.41987	1.211000	0.43351	0.557000	0.71058	CTC	.	.	none		0.438	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		T	82031675	G	T	82031675	3	4	27	1	0	0	0	0	1	0	0	0	12523	942	33	4	441	4	PRKG2	4	82031675	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	11961309	82031675	109122601	143	21831										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga	13	6	0	4	rs367717407|rs373805744	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	DSPP_ENST00000399271.1_Silent_p.S1088S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.T3264C						scavenged	.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	21	6	0.285714		WXS	Illumina HiSeq	Phase_I	57	24	0.421053	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537078	T	C	88537078	2	2	27	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88537078	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6505403	88537078	102617198	144	21832										
BANK1	55024	hgsc.bcm.edu	37	chr4	102816467	102816467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcacttgaaaacagaatagCattgaagaacttgatggtgt	9	5	1	5	rs62321738	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:102816467C>G	ENST00000322953.4	+	6	1183	c.909C>G	c.(907-909)agC>agG	p.S303R	BANK1_ENST00000508653.1_Missense_Mutation_p.S170R|BANK1_ENST00000444316.2_Missense_Mutation_p.S273R|BANK1_ENST00000428908.1_Missense_Mutation_p.S170R|BANK1_ENST00000504592.1_Missense_Mutation_p.S288R	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	303	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.			S -> R (in Ref. 4; BAF84822). {ECO:0000305}.	B cell activation (GO:0042113)			p.S303R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AACAGAATAGCATTGAAGAAC	0.279													C|||	536	0.107029	0.0197	0.2349	5008	,	,		14327	0.1706		0.0805	False		,,,				2504	0.0961				p.S303R		Atlas-SNP	.											BANK1,NS,lymphoid_neoplasm,0,1	BANK1	95	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C909G						scavenged	.	C	ARG/SER,ARG/SER,ARG/SER	153,4253	105.2+/-143.6	1,151,2051	78	81	80		819,510,909	1.8	0	4	dbSNP_129	80	538,8054	146.5+/-202.0	20,498,3778	yes	missense,missense,missense	BANK1	NM_001083907.2,NM_001127507.2,NM_017935.4	110,110,110	21,649,5829	GG,GC,CC		6.2616,3.4725,5.3162	benign,benign,benign	273/756,170/653,303/786	102816467	691,12307	2203	4296	6499	SO:0001583	missense	55024	exon6			GAATAGCATTGAA	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.909C>G	4.37:g.102816467C>G	ENSP00000320509:p.Ser303Arg	Somatic	476	1	0.00210084		WXS	Illumina HiSeq	Phase_I	421	8	0.0190024	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	239	0.10943223443223443	13	0.026422764227642278	66	0.18232044198895028	104	0.18181818181818182	56	0.07387862796833773	C	5.883	0.347041	0.11126	0.034725	0.062616	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19806	2.81;2.8;2.12;2.12;2.81	4.94	1.82	0.25136	DBB domain (1);	1.920100	0.02872	N	0.131724	T	0.00073	0.0002	L	0.46157	1.445	0.80722	P	0.0	B;B;B	0.32526	0.018;0.374;0.374	B;B;B	0.38616	0.044;0.186;0.277	T	0.28870	-1.0030	9	0.72032	D	0.01	.	10.2618	0.43431	0.4611:0.5389:0.0:0.0	rs62321738	170;303;288	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	R	288;303;170;170;273	ENSP00000421443:S288R;ENSP00000320509:S303R;ENSP00000412748:S170R;ENSP00000422314:S170R;ENSP00000388817:S273R	ENSP00000320509:S303R	S	+	3	2	BANK1	103035490	0.000000	0.05858	0.031000	0.17742	0.398000	0.30690	-0.228000	0.09114	1.017000	0.39495	0.585000	0.79938	AGC	C|0.929;G|0.071	0.071	strong		0.279	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		G	102816467	C	G	102816467	3	3	27	1	0	0	0	0	1	0	0	0	1309	709	25	4	931	4	BANK1	4	102816467	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	14279389	102816467	88337809	145	21833										
PRDM5	11107	hgsc.bcm.edu	37	chr4	121738049	121738049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaacttcgcgaagactccttTagactgcttttcgctgtgca	8	11	0	2	rs343192	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:121738049T>C	ENST00000264808.3	-	6	921	c.681A>G	c.(679-681)ctA>ctG	p.L227L	PRDM5_ENST00000428209.2_Intron|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAGACTCCTTTAGACTGCTTT	0.363													C|||	1377	0.27496	0.2057	0.3948	5008	,	,		17855	0.3562		0.3191	False		,,,				2504	0.1544				p.L227L		Atlas-SNP	.											PRDM5,NS,carcinoma,-2,1	PRDM5	76	1	0			c.A681G						scavenged	.	C		947,3459	735.3+/-410.7	106,735,1362	154	159	157		681	2.4	1	4	dbSNP_79	157	2711,5889	682.3+/-403.8	446,1819,2035	no	coding-synonymous	PRDM5	NM_018699.2		552,2554,3397	CC,CT,TT		31.5233,21.4934,28.1255		227/631	121738049	3658,9348	2203	4300	6503	SO:0001819	synonymous_variant	11107	exon6			CTCCTTTAGACTG	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.681A>G	4.37:g.121738049T>C		Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	306	11	0.0359477	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	CCDS3716.1																																																																																			T|0.707;C|0.293	0.293	strong		0.363	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			C	121738049	T	C	121738049	2	2	27	1	0	0	0	0	0	0	0	1	12460	1741	61	2		2	PRDM5	4	121738049	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	18921582	121738049	69416227	146	21834										
NUDT6	11162	hgsc.bcm.edu	37	chr4	123814308	123814308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caggatttgtgtgctgttgcCgaatactcaggacggacctg	13	9	1	0	rs1048201	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:123814308C>T	ENST00000304430.5	-	5	659	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	NUDT6_ENST00000339154.2_Missense_Mutation_p.R40Q|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000608639.1_5'Flank|NUDT6_ENST00000502270.1_Missense_Mutation_p.R40Q|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	209	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.		R -> Q (in dbSNP:rs1048201).			mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.R40Q(2)|p.R209Q(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GTGCTGTTGCCGAATACTCAG	0.403													C|||	1146	0.228834	0.0416	0.1499	5008	,	,		18285	0.4554		0.1779	False		,,,				2504	0.3569				p.R209Q		Atlas-SNP	.											NUDT6_ENST00000304430,NS,carcinoma,0,3	NUDT6	50	3	3	Substitution - Missense(3)	prostate(2)|stomach(1)	c.G626A	GRCh37	CM065349	NUDT6	M	rs1048201	PASS	.	C	,GLN/ARG,GLN/ARG	289,4117	158.9+/-191.5	10,269,1924	87	91	90		,626,119	5.4	1	4	dbSNP_86	90	1501,7099	284.4+/-296.6	136,1229,2935	yes	utr-3,missense,missense	FGF2,NUDT6	NM_002006.4,NM_007083.3,NM_198041.1	,43,43	146,1498,4859	TT,TC,CC		17.4535,6.5592,13.7629	,probably-damaging,probably-damaging	,209/317,40/148	123814308	1790,11216	2203	4300	6503	SO:0001583	missense	11162	exon5			TGTTGCCGAATAC	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.626G>A	4.37:g.123814308C>T	ENSP00000306070:p.Arg209Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	77	5	0.0649351	NM_007083	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	472	0.21611721611721613	18	0.036585365853658534	56	0.15469613259668508	262	0.458041958041958	136	0.17941952506596306	C	33	5.258099	0.95368	0.065592	0.174535	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.07688	3.17;3.17;3.17	5.41	5.41	0.78517	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.89840	3.065	0.09310	P	0.99999999579817	D	0.89917	1.0	D	0.91635	0.999	T	0.41233	-0.9520	9	0.66056	D	0.02	-11.2049	19.2326	0.93846	0.0:1.0:0.0:0.0	rs1048201;rs3172523;rs3804157;rs52813414;rs58707045;rs1048201	209	P53370	NUDT6_HUMAN	Q	209;40;40	ENSP00000306070:R209Q;ENSP00000344011:R40Q;ENSP00000424117:R40Q	ENSP00000306070:R209Q	R	-	2	0	NUDT6	124033758	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.013000	0.76373	2.538000	0.85594	0.650000	0.86243	CGG	C|0.825;T|0.175	0.175	strong		0.403	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		T	123814308	C	T	123814308	3	4	27	1	0	0	0	0	1	0	0	0	10743	652	23	1	328	1	NUDT6	4	123814308	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2076259	123814308	67339968	147	21835										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125590478	125590478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctgctggcatttgtttaggTggtgcagcagtcccggattt	13	8	1	0	rs1874748	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:125590478T>C	ENST00000504087.1	-	4	4991	c.3954A>G	c.(3952-3954)ccA>ccG	p.P1318P	ANKRD50_ENST00000515641.1_Silent_p.P1139P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1318										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTGTTTAGGTGGTGCAGCAG	0.398													T|||	1070	0.213658	0.2292	0.1816	5008	,	,		19308	0.2421		0.16	False		,,,				2504	0.2413				p.P1318P		Atlas-SNP	.											.	ANKRD50	136	.	0			c.A3954G						PASS	.	T	,	969,3437	363.1+/-316.4	99,771,1333	145	146	146		3417,3954	-10.4	0	4	dbSNP_92	146	1303,7297	257.5+/-281.5	107,1089,3104	no	coding-synonymous,coding-synonymous	ANKRD50	NM_001167882.1,NM_020337.2	,	206,1860,4437	CC,CT,TT		15.1512,21.9927,17.4689	,	1139/1251,1318/1430	125590478	2272,10734	2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			TTTAGGTGGTGCA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3954A>G	4.37:g.125590478T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	132	7	0.0530303	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			T|0.820;C|0.180	0.180	strong		0.398	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		C	125590478	T	C	125590478	2	2	27	1	0	0	0	0	0	0	0	1	677	1683	59	2		2	ANKRD50	4	125590478	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1776170	125590478	65563798	148	21836										
INTU	27152	hgsc.bcm.edu	37	chr4	128628100	128628100	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctcagggctctgatggtttAgaagaaagtgggaccttgct	13	7	2	3	rs35858752	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:128628100A>C	ENST00000335251.6	+	12	2350	c.2247A>C	c.(2245-2247)ttA>ttC	p.L749F		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	749					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGATGGTTTAGAAGAAAGTG	0.448													A|||	362	0.0722843	0.0	0.0821	5008	,	,		20418	0.2758		0.0199	False		,,,				2504	0.0072				p.L749F		Atlas-SNP	.											.	INTU	92	.	0			c.A2247C						PASS	.	A	PHE/LEU	36,4370	40.0+/-72.8	0,36,2167	195	196	195		2247	-1.9	0.5	4	dbSNP_126	195	113,8487	60.6+/-122.4	0,113,4187	yes	missense	INTU	NM_015693.3	22	0,149,6354	CC,CA,AA		1.314,0.8171,1.1456	benign	749/943	128628100	149,12857	2203	4300	6503	SO:0001583	missense	27152	exon12			TGGTTTAGAAGAA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2247A>C	4.37:g.128628100A>C	ENSP00000334003:p.Leu749Phe	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	227	0.10393772893772894	0	0.0	29	0.08011049723756906	178	0.3111888111888112	20	0.026385224274406333	A	0.019	-1.461435	0.01062	0.008171	0.01314	ENSG00000164066	ENST00000335251	.	.	.	4.36	-1.85	0.07784	.	1.487300	0.03485	N	0.215726	T	0.00012	0.0000	N	0.22421	0.69	0.09310	P	0.9999999411836	B	0.02656	0.0	B	0.01281	0.0	T	0.28870	-1.0030	8	0.10111	T	0.7	-0.1168	4.2651	0.10759	0.4697:0.0:0.2525:0.2778	rs35858752	749	Q9ULD6	PDZD6_HUMAN	F	749	.	ENSP00000334003:L749F	L	+	3	2	INTU	128847550	0.006000	0.16342	0.452000	0.26994	0.073000	0.16967	0.020000	0.13466	-0.234000	0.09782	0.528000	0.53228	TTA	A|0.963;C|0.037	0.037	strong		0.448	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		C	128628100	A	C	128628100	3	2	27	1	0	0	0	0	1	0	0	0	7786	417	15	5	2293	5	INTU	4	128628100	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3037622	128628100	62526176	149	21837										
PLK4	10733	hgsc.bcm.edu	37	chr4	128814492	128814492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caggtgattgaaaagacaggGaagtcttacactttaaaaag	10	5	1	3	rs56250604	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:128814492G>A	ENST00000270861.5	+	11	2515	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	PLK4_ENST00000515069.1_Silent_p.G669G|PLK4_ENST00000507249.1_Silent_p.G686G|PLK4_ENST00000514379.1_Silent_p.G706G|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.G715G	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	747					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAAAGACAGGGAAGTCTTACA	0.299													G|||	363	0.072484	0.0	0.0836	5008	,	,		15010	0.2669		0.0199	False		,,,				2504	0.0164				p.G747G	Colon(135;508 1718 19061 31832 42879)	Atlas-SNP	.											.	PLK4	65	.	0			c.G2241A						PASS	.	G	,,	24,4382	25.3+/-52.1	0,24,2179	73	76	75		2145,2118,2241	0.6	0.7	4	dbSNP_129	75	105,8489	48.9+/-108.6	0,105,4192	no	coding-synonymous,coding-synonymous,coding-synonymous	PLK4	NM_001190799.1,NM_001190801.1,NM_014264.4	,,	0,129,6371	AA,AG,GG		1.2218,0.5447,0.9923	,,	715/939,706/930,747/971	128814492	129,12871	2203	4297	6500	SO:0001819	synonymous_variant	10733	exon11			GACAGGGAAGTCT	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2241G>A	4.37:g.128814492G>A		Somatic	463	0	0		WXS	Illumina HiSeq	Phase_I	480	22	0.0458333	NM_014264	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																			G|0.962;A|0.038	0.038	strong		0.299	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			A	128814492	G	A	128814492	2	1	27	1	0	0	0	0	0	0	0	1	12098	1161	41	2		2	PLK4	4	128814492	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	186392	128814492	62339784	150	21838										
MAP9	79884	hgsc.bcm.edu	37	chr4	156274377	156274377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cattttcttcttcagttttcTtcttgtttttttcttcaagc	3	9	7	0	rs1058992	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:156274377T>C	ENST00000311277.4	-	11	1759	c.1496A>G	c.(1495-1497)aAg>aGg	p.K499R	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000610249.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K475R|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000598252.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	499			K -> R (in dbSNP:rs1058992).		cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.K499R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTCAGTTTTCTTCTTGTTTTT	0.333													T|||	2048	0.408946	0.6104	0.3228	5008	,	,		14025	0.5863		0.2247	False		,,,				2504	0.2045				p.K499R		Atlas-SNP	.											MAP9,NS,carcinoma,0,1	MAP9	79	1	1	Substitution - Missense(1)	prostate(1)	c.A1496G						PASS	.	T	ARG/LYS	2319,2085	603.3+/-390.1	631,1057,514	108	104	106		1496	4.1	1	4	dbSNP_86	106	1857,6739	332.3+/-320.0	193,1471,2634	yes	missense	MAP9	NM_001039580.1	26	824,2528,3148	CC,CT,TT		21.6031,47.3433,32.1231	probably-damaging	499/648	156274377	4176,8824	2202	4298	6500	SO:0001583	missense	79884	exon11			GTTTTCTTCTTGT	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1496A>G	4.37:g.156274377T>C	ENSP00000310593:p.Lys499Arg	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	921	0.4217032967032967	307	0.6239837398373984	104	0.287292817679558	329	0.5751748251748252	181	0.23878627968337732	T	10.92	1.487296	0.26686	0.526567	0.216031	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.09445	2.98;2.98	5.23	4.05	0.47172	.	0.402707	0.28700	N	0.014428	T	0.00012	0.0000	M	0.69823	2.125	0.09310	P	0.9999999999743422	B;B;B	0.32203	0.169;0.36;0.169	B;B;B	0.32022	0.091;0.139;0.091	T	0.19321	-1.0309	9	0.19147	T	0.46	-13.891	8.6845	0.34229	0.0:0.0879:0.0:0.9121	rs17357030	474;499;499	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	R	499;475	ENSP00000310593:K499R;ENSP00000427402:K475R	ENSP00000310593:K499R	K	-	2	0	MAP9	156493827	0.914000	0.31030	1.000000	0.80357	0.991000	0.79684	0.012000	0.13287	0.930000	0.37217	0.533000	0.62120	AAG	T|0.652;C|0.348	0.348	strong		0.333	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		C	156274377	T	C	156274377	3	2	27	1	0	0	0	0	1	0	0	0	9270	1609	56	3	463	3	MAP9	4	156274377	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	27459885	156274377	34879899	151	21839										
ANP32C	55016	hgsc.bcm.edu	37	chr4	165118819	165118819	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agttctttcacatcagagggCgccctgttccgcagctctga	10	13	4	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:165118819C>T	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A15A(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATCAGAGGGCGCCCTGTTCC	0.502																																					p.A15A		Atlas-SNP	.											ANP32C,NS,carcinoma,0,1	ANP32C	59	1	1	Substitution - coding silent(1)	endometrium(1)	c.G45A						PASS	.						121	123	123					4																	165118819		2203	4300	6503	SO:0001627	intron_variant	23520	exon1			AGAGGGCGCCCTG	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-86005G>A	4.37:g.165118819C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	102	34	0.333333	NM_012403	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																			.	.	none		0.502	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	165118819	C	T	165118819	1	4	27	0	1	0	0	0	0	0	0	0	707	755	27	1		1	ANP32C	4	165118819	Intron	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8844442	165118819	26035457	152	21840										
FAT1	2195	hgsc.bcm.edu	37	chr4	187542755	187542755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgtaaacttcggagaggcgTtgtcagcaattgtgacaaag	12	6	1	2	rs28489116	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr4:187542755T>C	ENST00000441802.2	-	10	5194	c.4985A>G	c.(4984-4986)aAc>aGc	p.N1662S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1662	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N1662S(2)|p.N1665S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGAGAGGCGTTGTCAGCAAT	0.408										HNSCC(5;0.00058)			T|||	1004	0.200479	0.2141	0.1988	5008	,	,		19433	0.3849		0.1113	False		,,,				2504	0.0849				p.N1662S	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											FAT1,NS,carcinoma,0,2	FAT1	500	2	3	Substitution - Missense(3)	prostate(3)	c.A4985G						PASS	.	T	SER/ASN	605,3161		61,483,1339	94	91	92		4985	5.2	1	4	dbSNP_125	92	971,7257		69,833,3212	yes	missense	FAT1	NM_005245.3	46	130,1316,4551	CC,CT,TT		11.8012,16.0648,13.1399	benign	1662/4589	187542755	1576,10418	1883	4114	5997	SO:0001583	missense	2195	exon10			GAGGCGTTGTCAG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4985A>G	4.37:g.187542755T>C	ENSP00000406229:p.Asn1662Ser	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	150	7	0.0466667	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	495	0.22664835164835165	103	0.20934959349593496	75	0.20718232044198895	229	0.40034965034965037	88	0.11609498680738786	T	16.23	3.063325	0.55432	0.160648	0.118012	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.60672	0.17	5.19	5.19	0.71726	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.77616	2.38	0.09310	P	0.99999999775895	D	0.71674	0.998	D	0.79784	0.993	T	0.17379	-1.0371	9	0.37606	T	0.19	.	15.5098	0.75772	0.0:0.0:0.0:1.0	rs28489116;rs58264946	1662	Q14517	FAT1_HUMAN	S	1662;1664	ENSP00000406229:N1662S	ENSP00000260147:N1664S	N	-	2	0	FAT1	187779749	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	7.825000	0.86693	2.304000	0.77564	0.528000	0.53228	AAC	T|0.794;C|0.206	0.206	strong		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187542755	T	C	187542755	3	2	27	1	0	0	0	0	1	0	0	0	5689	1725	60	2	8853	2	FAT1	4	187542755	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	22423936	187542755	3611521	153	21841										
TPPP	11076	hgsc.bcm.edu	37	chr5	678087	678087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctccgattccagcgacagcCtcttggctgcccggtccttc	9	18	1	0	rs570878136	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:678087C>T	ENST00000360578.5	-	2	210	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	30	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R30K(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGCGACAGCCTCTTGGCTGC	0.677													C|||	15	0.00299521	0.0061	0.0	5008	,	,		16462	0.0069		0.0	False		,,,				2504	0.0				p.R30K		Atlas-SNP	.											TPPP,NS,carcinoma,0,1	TPPP	24	1	1	Substitution - Missense(1)	prostate(1)	c.G89A						scavenged	.						14	17	16					5																	678087		2199	4295	6494	SO:0001583	missense	11076	exon2			GACAGCCTCTTGG	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.89G>A	5.37:g.678087C>T	ENSP00000353785:p.Arg30Lys	Somatic	225	4	0.0177778		WXS	Illumina HiSeq	Phase_I	248	11	0.0443548	NM_007030		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605282	0.46423	.	.	ENSG00000171368	ENST00000360578	T	0.45276	0.9	5.23	5.23	0.72850	.	0.149935	0.44902	D	0.000407	T	0.29588	0.0738	L	0.29908	0.895	0.44635	D	0.997618	B	0.15141	0.012	B	0.13407	0.009	T	0.11867	-1.0570	10	0.05436	T	0.98	-54.1656	16.5545	0.84482	0.0:1.0:0.0:0.0	.	30	O94811	TPPP_HUMAN	K	30	ENSP00000353785:R30K	ENSP00000353785:R30K	R	-	2	0	TPPP	731087	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	4.081000	0.57627	2.437000	0.82529	0.491000	0.48974	AGG	.	.	none		0.677	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678087	C	T	678087	3	4	27	1	0	0	0	0	1	0	0	0	16410	681	24	2	582	2	TPPP	5	678087	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		678087	180237173	154	21842										
KIAA0947	23379	hgsc.bcm.edu	37	chr5	5461621	5461621	+	Frame_Shift_Del	DEL	A	A	-													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaagagcagtgggatagaatAtacaaaagtagtaaaaggct							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:5461621delA	ENST00000296564.7	+	13	2396	c.2174delA	c.(2173-2175)tatfs	p.Y725fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		725					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGGATAGAATATACAAAAGTA	0.383																																					p.Y725fs		Pindel,Atlas-Indel	.											KIAA0947_ENST00000296564,NS,carcinoma,-1,2	KIAA0947	301	2	0			c.2173delT						PASS	.						54	52	52					5																	5461621		1850	4094	5944	SO:0001589	frameshift_variant	23379	exon13			.																												ENST00000296564.7:c.2174delA	5.37:g.5461621delA	ENSP00000296564:p.Tyr725fs	Somatic	173	.	.		WXS	Illumina HiSeq	Phase_I	158	30	0.19	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Del	DEL	ENST00000296564.7	37	CCDS47187.1																																																																																			.	.	none		0.383	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			-	5461621	A	-	5461621	7	5	27	1	0	1	0	1	0	0	0	0	8202	449	16	0	2224	0	KIAA0947	5	5461621	Frame_Shift_Del	DEL	A	TCGA-GR-A4D9-01B-11D-A31X-10	4783534	5461621	175453639	155	21843										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9052036	9052036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccggctctccgtggtgttccCggagcactggctgcccatgg	14	15	1	0	rs139882587		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:9052036C>T	ENST00000382496.5	-	20	3459	c.2794G>A	c.(2794-2796)Ggg>Agg	p.G932R	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	932	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTGGTGTTCCCGGAGCACTGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.001				p.G932R		Atlas-SNP	.											SEMA5A,colon,carcinoma,+2,1	SEMA5A	236	1	0			c.G2794A						PASS	.	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	46	48	47		2794	4.2	0.6	5	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SEMA5A	NM_003966.2	125	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	932/1075	9052036	3,13003	2203	4300	6503	SO:0001583	missense	9037	exon20			TGTTCCCGGAGCA	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2794G>A	5.37:g.9052036C>T	ENSP00000371936:p.Gly932Arg	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	137	44	0.321168	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566959	0.65651	2.27E-4	2.33E-4	ENSG00000112902	ENST00000382496	T	0.22945	1.93	5.12	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73360	-0.4007	10	0.87932	D	0	.	11.7168	0.51659	0.0:0.9131:0.0:0.0869	.	932	Q13591	SEM5A_HUMAN	R	932	ENSP00000371936:G932R	ENSP00000371936:G932R	G	-	1	0	SEMA5A	9105036	1.000000	0.71417	0.601000	0.28877	0.266000	0.26442	7.573000	0.82421	1.287000	0.44583	0.655000	0.94253	GGG	C|1.000;T|0.000	0.000	strong		0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9052036	C	T	9052036	3	4	27	1	0	0	0	0	1	0	0	0	14037	652	23	1	446	1	SEMA5A	5	9052036	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3590415	9052036	171863224	156	21844										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23527724	23527724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtgtgggcggggctttcgcAataagtcacacctcctcaga	12	11	2	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:23527724A>G	ENST00000296682.3	+	11	2709	c.2527A>G	c.(2527-2529)Aat>Gat	p.N843D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	843					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.N843D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTCGCAATAAGTCACA	0.587										HNSCC(3;0.000094)																											p.N843D		Atlas-SNP	.											PRDM9,trunk,malignant_melanoma,0,2	PRDM9	344	2	2	Substitution - Missense(2)	skin(2)	c.A2527G						scavenged	.						66	76	72					5																	23527724		2183	4295	6478	SO:0001583	missense	56979	exon11			TTTCGCAATAAGT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2527A>G	5.37:g.23527724A>G	ENSP00000296682:p.Asn843Asp	Somatic	237	3	0.0126582		WXS	Illumina HiSeq	Phase_I	195	8	0.0410256	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.847213	0.00067	.	.	ENSG00000164256	ENST00000296682	T	0.07444	3.19	2.67	-5.34	0.02705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.04355	-0.22	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.30208	-0.9986	9	0.32370	T	0.25	.	1.9842	0.03433	0.2035:0.1472:0.4036:0.2457	.	843	Q9NQV7	PRDM9_HUMAN	D	843	ENSP00000296682:N843D	ENSP00000296682:N843D	N	+	1	0	PRDM9	23563481	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.808000	0.00000	-5.282000	0.00017	-3.452000	0.00036	AAT	.	.	none		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23527724	A	G	23527724	3	3	27	1	0	0	0	0	1	0	0	0	12463	130	5	2	2565	2	PRDM9	5	23527724	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	14475688	23527724	157387536	157	21845										
NPR3	4883	hgsc.bcm.edu	37	chr5	32712111	32712111	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cccgggtgcggccggccatcGagtatgctctgcgcagcgtg	16	14	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:32712111G>T	ENST00000265074.8	+	1	572	c.229G>T	c.(229-231)Gag>Tag	p.E77*	NPR3_ENST00000415167.2_Nonsense_Mutation_p.E77*|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	77					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGGCCATCGAGTATGCTCT	0.632																																					p.E77X		Atlas-SNP	.											NPR3,NS,carcinoma,-2,1	NPR3	65	1	0			c.G229T						scavenged	.						23	28	27					5																	32712111		1952	4151	6103	SO:0001587	stop_gained	4883	exon1			GCCATCGAGTATG		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.229G>T	5.37:g.32712111G>T	ENSP00000265074:p.Glu77*	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	2	0.0210526	NM_000908	A2RRD1|B4DT84|E7EPG9	Nonsense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	40	7.958555	0.98583	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	.	.	.	5.37	5.37	0.77165	.	0.244211	0.41605	D	0.000856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-21.1844	18.7146	0.91671	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000265074:E77X	E	+	1	0	NPR3	32747868	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.766000	0.55280	2.539000	0.85634	0.561000	0.74099	GAG	.	.	none		0.632	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		T	32712111	G	T	32712111	4	4	27	1	0	0	0	0	0	1	0	0	10596	1059	37	4	231	4	NPR3	5	32712111	Nonsense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9184387	32712111	148203149	158	21846										
SLC45A2	51151	hgsc.bcm.edu	37	chr5	33963870	33963870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtaaccatttttaactttctCgatagaaccatactcgtaca	4	10	1	1	rs26722	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:33963870C>T	ENST00000296589.4	-	3	960	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.E272K|SLC45A2_ENST00000342059.3_Missense_Mutation_p.E213K|SLC45A2_ENST00000345083.5_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	272			E -> K (associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs26722). {ECO:0000269|PubMed:14722913, ECO:0000269|PubMed:14961451, ECO:0000269|PubMed:15455243, ECO:0000269|PubMed:15714523, ECO:0000269|PubMed:17768386}.		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(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTAACTTTCTCGATAGAACCA	0.433													C|||	892	0.178115	0.0439	0.3084	5008	,	,		19696	0.3909		0.0239	False		,,,				2504	0.2065				p.E272K	Ovarian(31;380 859 8490 22203 49048)	Atlas-SNP	.											.	SLC45A2	100	.	0			c.G814A	GRCh37	CM051555	SLC45A2	M	rs26722	PASS	.	C	LYS/GLU,LYS/GLU	219,4187	132.5+/-169.0	7,205,1991	157	162	160	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	814,814	2.1	0.4	5	dbSNP_76	160	145,8455	71.3+/-133.9	3,139,4158	yes	missense,missense	SLC45A2	NM_001012509.2,NM_016180.3	56,56	10,344,6149	TT,TC,CC		1.686,4.9705,2.7987	benign,benign	272/461,272/531	33963870	364,12642	2203	4300	6503	SO:0001583	missense	51151	exon3			CTTTCTCGATAGA	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.814G>A	5.37:g.33963870C>T	ENSP00000296589:p.Glu272Lys	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	113	6	0.0530973	NM_016180	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	340	0.15567765567765568	24	0.04878048780487805	84	0.23204419889502761	225	0.39335664335664333	7	0.009234828496042216	C	11.06	1.527052	0.27299	0.049705	0.01686	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;T;D;D	0.93488	-3.23;2.29;-3.23;-3.23	5.83	2.14	0.27477	Major facilitator superfamily domain, general substrate transporter (1);	0.582555	0.19089	N	0.123023	T	0.00012	0.0000	L	0.40543	1.245	0.09310	P	0.999994897	B;B	0.12630	0.006;0.003	B;B	0.13407	0.006;0.009	T	0.08027	-1.0742	9	0.06891	T	0.86	-7.1423	9.8671	0.41150	0.0:0.7203:0.0:0.2797	rs26722;rs16892026;rs52832300;rs60285050;rs26722	272;272	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	K	272;213;272;97	ENSP00000296589:E272K;ENSP00000341014:E213K;ENSP00000371534:E272K;ENSP00000424010:E97K	ENSP00000296589:E272K	E	-	1	0	SLC45A2	33999627	0.923000	0.31300	0.441000	0.26858	0.319000	0.28217	1.765000	0.38481	0.112000	0.17975	-1.012000	0.02466	GAG	C|0.910;T|0.090	0.090	strong		0.433	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		T	33963870	C	T	33963870	3	4	27	1	0	0	0	0	1	0	0	0	14641	893	31	1	813	1	SLC45A2	5	33963870	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1251759	33963870	146951390	159	21847										
LIFR	3977	hgsc.bcm.edu	37	chr5	38496637	38496637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagggactgtgtttcctcatCtgatgaacacgatacattgt	9	8	2	2	rs3729740	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:38496637C>T	ENST00000263409.4	-	13	1894	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	LIFR_ENST00000453190.2_Missense_Mutation_p.D578N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	578	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		D -> N (in dbSNP:rs3729740).		cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.D578H(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GTTTCCTCATCTGATGAACAC	0.373			T	PLAG1	salivary adenoma								C|||	263	0.052516	0.0008	0.0144	5008	,	,		24131	0.2411		0.002	False		,,,				2504	0.0072				p.D578N	Melanoma(13;4 730 6426 9861 34751)	Atlas-SNP	.		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	LIFR,NS,NS,0,1	LIFR	348	1	1	Substitution - Missense(1)	NS(1)	c.G1732A						PASS	.	C	ASN/ASP,ASN/ASP	6,4400	11.4+/-27.6	0,6,2197	208	177	187		1732,1732	1.9	0	5	dbSNP_107	187	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense	LIFR	NM_001127671.1,NM_002310.5	23,23	0,18,6485	TT,TC,CC		0.1395,0.1362,0.1384	benign,benign	578/1098,578/1098	38496637	18,12988	2203	4300	6503	SO:0001583	missense	3977	exon13			CCTCATCTGATGA	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1732G>A	5.37:g.38496637C>T	ENSP00000263409:p.Asp578Asn	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	152	7	0.0460526	NM_002310	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	137	0.06272893772893773	0	0.0	3	0.008287292817679558	134	0.23426573426573427	0	0.0	C	12.10	1.836874	0.32421	0.001362	0.001395	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.53423	0.62;0.62	5.73	1.88	0.25563	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.341120	0.04080	N	0.309436	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.15378	-1.0439	9	0.18710	T	0.47	-6.449	4.778	0.13189	0.0:0.3771:0.311:0.3119	rs3729740;rs52801382;rs56643611;rs3729740	578	P42702	LIFR_HUMAN	N	578	ENSP00000263409:D578N;ENSP00000398368:D578N	ENSP00000263409:D578N	D	-	1	0	LIFR	38532394	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.429000	0.21412	0.323000	0.23307	0.563000	0.77884	GAT	C|0.969;T|0.031	0.031	strong		0.373	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		T	38496637	C	T	38496637	3	4	27	1	0	0	0	0	1	0	0	0	8780	913	32	2	1593	2	LIFR	5	38496637	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4532767	38496637	142418623	160	21848										
CARD6	84674	hgsc.bcm.edu	37	chr5	40853048	40853048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctccgtggaaatctagaaagCttttggactcagtttggttt	10	7	2	1	rs16870407	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:40853048C>T	ENST00000254691.5	+	3	1813	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	538					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATCTAGAAAGCTTTTGGACTC	0.388													C|||	827	0.165136	0.0295	0.1974	5008	,	,		20396	0.3284		0.0805	False		,,,				2504	0.2444				p.S538S		Atlas-SNP	.											CARD6,caecum,carcinoma,+1,1	CARD6	141	1	0			c.C1614T						scavenged	.	C		217,4189	124.1+/-161.4	5,207,1991	90	97	95		1614	1.2	0.3	5	dbSNP_123	95	798,7802	174.0+/-224.4	47,704,3549	no	coding-synonymous	CARD6	NM_032587.3		52,911,5540	TT,TC,CC		9.2791,4.9251,7.8041		538/1038	40853048	1015,11991	2203	4300	6503	SO:0001819	synonymous_variant	84674	exon3			AGAAAGCTTTTGG	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1614C>T	5.37:g.40853048C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	130	5	0.0384615	NM_032587	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																			C|0.892;G|0.000;T|0.108	0.108	strong		0.388	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			T	40853048	C	T	40853048	2	4	27	1	0	0	0	0	0	0	0	1	2650	796	28	2		2	CARD6	5	40853048	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2356411	40853048	140062212	161	21849										
NNT	23530	hgsc.bcm.edu	37	chr5	43613046	43613046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	actgactgttggagtccccaAagagatattccaaaatgaga	9	8	0	3	rs35201656	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:43613046A>G	ENST00000264663.5	+	3	409	c.188A>G	c.(187-189)aAa>aGa	p.K63R	NNT_ENST00000344920.4_Missense_Mutation_p.K63R|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	63					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.K63R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGAGTCCCCAAAGAGATATTC	0.388													A|||	212	0.0423323	0.0015	0.0216	5008	,	,		17260	0.1062		0.0378	False		,,,				2504	0.0511				p.K63R		Atlas-SNP	.											NNT,NS,carcinoma,0,1	NNT	92	1	1	Substitution - Missense(1)	stomach(1)	c.A188G						scavenged	.	A	ARG/LYS,ARG/LYS	44,4362	47.5+/-82.1	1,42,2160	125	131	129		188,188	2	1	5	dbSNP_126	129	361,8239	120.1+/-179.3	5,351,3944	yes	missense,missense	NNT	NM_012343.3,NM_182977.2	26,26	6,393,6104	GG,GA,AA		4.1977,0.9986,3.1139	benign,benign	63/1087,63/1087	43613046	405,12601	2203	4300	6503	SO:0001583	missense	23530	exon3			TCCCCAAAGAGAT	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.188A>G	5.37:g.43613046A>G	ENSP00000264663:p.Lys63Arg	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	221	5	0.0226244	NM_182977	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	93	0.042582417582417584	1	0.0020325203252032522	7	0.019337016574585635	55	0.09615384615384616	30	0.0395778364116095	A	16.84	3.234226	0.58886	0.009986	0.041977	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.7	1.95	0.26073	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-1 (1);Alanine dehydrogenase/PNT, N-terminal (1);	0.087586	0.85682	N	0.000000	T	0.06645	0.0170	L	0.35593	1.075	0.80722	D	1	P	0.47409	0.895	P	0.52881	0.712	T	0.12993	-1.0526	10	0.20046	T	0.44	-7.2108	9.8845	0.41253	0.805:0.0:0.195:0.0	rs35201656	63	Q13423	NNTM_HUMAN	R	63	ENSP00000427670:K63R;ENSP00000421886:K63R;ENSP00000264663:K63R;ENSP00000343873:K63R	ENSP00000264663:K63R	K	+	2	0	NNT	43648803	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.327000	0.59247	0.101000	0.17610	-0.274000	0.10170	AAA	A|0.964;G|0.036	0.036	strong		0.388	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		G	43613046	A	G	43613046	3	3	27	1	0	0	0	0	1	0	0	0	10510	14	1	2	194	2	NNT	5	43613046	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2759998	43613046	137302214	162	21850										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79029749	79029749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aacctttctctcccaagatcAtcagcctagagtcgaaagaa	6	12	3	3	rs1428225	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:79029749A>G	ENST00000446378.2	+	2	5192	c.5161A>G	c.(5161-5163)Atc>Gtc	p.I1721V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1721			I -> V (in dbSNP:rs1428225).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I1721V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCCAAGATCATCAGCCTAGA	0.418													G|||	1389	0.277356	0.5961	0.085	5008	,	,		18104	0.3621		0.0815	False		,,,				2504	0.0971				p.I1721V		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.A5161G						PASS	.	G	VAL/ILE	1877,1849		487,903,473	50	52	52		5161	2.8	0	5	dbSNP_88	52	707,7475		39,629,3423	yes	missense	CMYA5	NM_153610.3	29	526,1532,3896	GG,GA,AA		8.6409,49.6243,21.6997	benign	1721/4070	79029749	2584,9324	1863	4091	5954	SO:0001583	missense	202333	exon2			AAGATCATCAGCC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5161A>G	5.37:g.79029749A>G	ENSP00000394770:p.Ile1721Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	104	10	0.0961538	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	627	0.28708791208791207	305	0.6199186991869918	31	0.0856353591160221	232	0.40559440559440557	59	0.07783641160949868	G	0.001	-3.170670	0.00027	0.503757	0.086409	ENSG00000164309	ENST00000446378	T	0.37752	1.18	3.64	2.77	0.32553	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47086	-0.9144	8	0.02654	T	1	.	4.7036	0.12839	0.1166:0.0:0.6708:0.2126	rs1428225;rs16877145;rs57809833	1721	Q8N3K9	CMYA5_HUMAN	V	1721	ENSP00000394770:I1721V	ENSP00000394770:I1721V	I	+	1	0	CMYA5	79065505	0.005000	0.15991	0.009000	0.14445	0.001000	0.01503	0.467000	0.22035	0.110000	0.17919	-0.913000	0.02753	ATC	A|0.752;G|0.248	0.248	strong		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79029749	A	G	79029749	3	3	27	1	0	0	0	0	1	0	0	0	3590	217	8	2	5167	2	CMYA5	5	79029749	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	35416703	79029749	101885511	163	21851										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79030212	79030212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atttatgacaaccaagcctgCggatgtcaaagaaacaaaaa	7	8	1	2	rs16877147	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:79030212C>T	ENST00000446378.2	+	2	5655	c.5624C>T	c.(5623-5625)gCg>gTg	p.A1875V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1875			A -> V (in dbSNP:rs16877147).		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A1875V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCAAGCCTGCGGATGTCAAA	0.368													c|||	635	0.126797	0.0749	0.036	5008	,	,		21651	0.3621		0.0606	False		,,,				2504	0.0869				p.A1875V		Atlas-SNP	.											CMYA5,NS,carcinoma,0,1	CMYA5	643	1	1	Substitution - Missense(1)	stomach(1)	c.C5624T						scavenged	.	T	VAL/ALA	220,3420		13,194,1613	70	68	68		5624	-1.7	0	5	dbSNP_123	68	538,7634		22,494,3570	yes	missense	CMYA5	NM_153610.3	64	35,688,5183	TT,TC,CC		6.5835,6.044,6.4172	benign	1875/4070	79030212	758,11054	1820	4086	5906	SO:0001583	missense	202333	exon2			AGCCTGCGGATGT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5624C>T	5.37:g.79030212C>T	ENSP00000394770:p.Ala1875Val	Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	190	4	0.0210526	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	338	0.15476190476190477	49	0.09959349593495935	12	0.03314917127071823	232	0.40559440559440557	45	0.059366754617414245	c	10.65	1.411075	0.25465	0.06044	0.065835	ENSG00000164309	ENST00000446378	T	0.08008	3.14	6.06	-1.69	0.08186	.	1.442290	0.04201	N	0.330014	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B	0.14438	0.01	B	0.10450	0.005	T	0.43065	-0.9414	9	0.02654	T	1	.	3.5465	0.07831	0.1033:0.5421:0.1109:0.2437	rs16877147;rs16877147	1875	Q8N3K9	CMYA5_HUMAN	V	1875	ENSP00000394770:A1875V	ENSP00000394770:A1875V	A	+	2	0	CMYA5	79065968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.127000	0.15790	-0.228000	0.09869	-2.083000	0.00378	GCG	C|0.851;T|0.149	0.149	strong		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79030212	C	T	79030212	3	4	27	1	0	0	0	0	1	0	0	0	3590	768	27	1	5630	1	CMYA5	5	79030212	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	463	79030212	101885048	164	21852										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79031372	79031372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatctggtgacggtcaaaacGttaaagaaaaatccatgatt	8	6	2	3	rs6859595	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:79031372G>C	ENST00000446378.2	+	2	6815	c.6784G>C	c.(6784-6786)Gtt>Ctt	p.V2262L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2262			V -> L (in dbSNP:rs6859595). {ECO:0000269|PubMed:15489334}.		negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CGGTCAAAACGTTAAAGAAAA	0.343													G|||	1359	0.271366	0.5749	0.0821	5008	,	,		20192	0.3621		0.0815	False		,,,				2504	0.0971				p.V2262L		Atlas-SNP	.											.	CMYA5	643	.	0			c.G6784C						PASS	.	G	LEU/VAL	1758,1834		439,880,477	68	71	70		6784	-1.3	0.9	5	dbSNP_116	70	697,7435		40,617,3409	yes	missense	CMYA5	NM_153610.3	32	479,1497,3886	CC,CG,GG		8.5711,48.9421,20.94	benign	2262/4070	79031372	2455,9269	1796	4066	5862	SO:0001583	missense	202333	exon2			CAAAACGTTAAAG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6784G>C	5.37:g.79031372G>C	ENSP00000394770:p.Val2262Leu	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	215	9	0.0418605	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	620	0.2838827838827839	299	0.6077235772357723	30	0.08287292817679558	232	0.40559440559440557	59	0.07783641160949868	G	0.005	-2.236224	0.00277	0.489421	0.085711	ENSG00000164309	ENST00000446378	T	0.15017	2.46	5.74	-1.29	0.09288	.	0.951459	0.08743	N	0.900308	T	0.00012	0.0000	N	0.11427	0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	9	0.02654	T	1	.	1.4302	0.02332	0.1568:0.2929:0.3491:0.2012	rs6859595;rs17846621;rs17859711;rs57126049;rs6859595	2262	Q8N3K9	CMYA5_HUMAN	L	2262	ENSP00000394770:V2262L	ENSP00000394770:V2262L	V	+	1	0	CMYA5	79067128	0.002000	0.14202	0.943000	0.38184	0.004000	0.04260	-0.194000	0.09559	0.147000	0.19030	-1.149000	0.01842	GTT	G|0.737;C|0.263	0.263	strong		0.343	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79031372	G	C	79031372	3	2	27	1	0	0	0	0	1	0	0	0	3590	1145	40	4	6790	4	CMYA5	5	79031372	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1160	79031372	101883888	165	21853										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950708	79950708	+	Silent	SNP	T	T	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaccctggcgctgcagcggcTgcagcggccgcagcggccgc					rs201874762|rs2405875	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:79950708T>C	ENST00000265081.6	+	1	242	c.162T>C	c.(160-162)gcT>gcC	p.A54A	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	54	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTgcagcggctgcagcggccg	0.687								Mismatch excision repair (MMR)					-|||	259	0.0517173	0.0499	0.0447	5008	,	,		6179	0.0754		0.0437	False		,,,				2504	0.0429				p.A54A	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.T162C						PASS	.						9	9	9					5																	79950708		2150	4207	6357	SO:0001819	synonymous_variant	4437	exon1			AGCGGCTGCAGCG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.162T>C	5.37:g.79950708T>C		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	29	22	0.758621	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			T|0.781;C|0.219	0.219	strong		0.687	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950708	T	C	79950708	2	2	27	1	0	0	0	0	0	0	0	1	9871	1567	55	3		3	MSH3	5	79950708	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	919336	79950708	100964552	166	21854	439	2								
MSH3	4437	hgsc.bcm.edu	37	chr5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgctgcagcggctgcagcgGccgcagcggccgcagcgccc					rs144776112|rs201874762		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											MSH3_ENST00000265081,NS,carcinoma,0,1	MSH3	129	1	0			c.G169C						PASS	.						7	7	7					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	27	15	0.555556	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.835;C|0.165	0.165	strong		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950715	G	C	79950715	3	2	27	1	0	0	0	0	1	0	0	0	9871	1203	42	4	171	4	MSH3	5	79950715	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	7	79950715	100964545	167	21855	439	2								
GPR98	84059	hgsc.bcm.edu	37	chr5	90151589	90151589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acagtcagttttgcaaagtgGttgaggaaactgcagactat	11	6	1	2	rs2247870	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:90151589G>A	ENST00000405460.2	+	82	17722	c.17626G>A	c.(17626-17628)Gtt>Att	p.V5876I	GPR98_ENST00000425867.2_Missense_Mutation_p.V1537I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5876	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.			V -> I (in Ref. 1; AAD55586, 2; AAL30811 and 6; BAA31661). {ECO:0000305}.	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V5876I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCAAAGTGGTTGAGGAAAC	0.413													G|||	2299	0.459065	0.1309	0.6931	5008	,	,		20690	0.5665		0.5606	False		,,,				2504	0.5215				p.V5876I		Atlas-SNP	.											GPR98,NS,carcinoma,0,1	GPR98	605	1	1	Substitution - Missense(1)	stomach(1)	c.G17626A						PASS	.	G	ILE/VAL	759,3129		70,619,1255	297	274	281		17626	4.6	1	5	dbSNP_100	281	4531,3749		1235,2061,844	yes	missense	GPR98	NM_032119.3	29	1305,2680,2099	AA,AG,GG		45.2778,19.5216,43.4747	benign	5876/6307	90151589	5290,6878	1944	4140	6084	SO:0001583	missense	84059	exon82			AAAGTGGTTGAGG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17626G>A	5.37:g.90151589G>A	ENSP00000384582:p.Val5876Ile	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	122	5	0.0409836	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	1082	0.49542124542124544	72	0.14634146341463414	244	0.6740331491712708	334	0.583916083916084	432	0.5699208443271768	G	12.62	1.991585	0.35131	0.195216	0.547222	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.70164	-0.46;-0.46	5.5	4.64	0.57946	GPS domain (3);	0.111041	0.64402	D	0.000012	T	0.00012	0.0000	L	0.41710	1.295	0.20403	P	0.9999025175	B;P;B	0.36974	0.012;0.576;0.01	B;B;B	0.34242	0.016;0.178;0.009	T	0.46857	-0.9161	8	.	.	.	.	11.3472	0.49567	0.1921:0.0:0.8079:0.0	rs2247870;rs56587026;rs60466685;rs2247870	1537;5876;1537	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5876;5876;1537	ENSP00000384582:V5876I;ENSP00000392618:V1537I	.	V	+	1	0	GPR98	90187345	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.899000	0.48679	1.465000	0.48006	-0.216000	0.12614	GTT	G|0.534;A|0.466	0.466	strong		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90151589	G	A	90151589	3	1	27	1	0	0	0	0	1	0	0	0	6721	1261	44	2	17952	2	GPR98	5	90151589	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	10200874	90151589	90763671	168	21856										
ELL2	22936	hgsc.bcm.edu	37	chr5	95236415	95236415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acctgaggagaagatacagcGtctctactagaacatacagg	10	9	1	4	rs17085249	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:95236415G>A	ENST00000237853.4	-	7	1285	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	312					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.D312D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAGATACAGCGTCTCTACTAG	0.413													G|||	1706	0.340655	0.3654	0.2406	5008	,	,		19046	0.4325		0.2793	False		,,,				2504	0.3466				p.D312D		Atlas-SNP	.											ELL2,NS,carcinoma,0,1	ELL2	63	1	1	Substitution - coding silent(1)	prostate(1)	c.C936T						scavenged	.	G		1503,2903	478.5+/-358.2	256,991,956	75	73	73		936	-8.4	0	5	dbSNP_123	73	2247,6353	380.4+/-339.6	290,1667,2343	no	coding-synonymous	ELL2	NM_012081.5		546,2658,3299	AA,AG,GG		26.1279,34.1126,28.8328		312/641	95236415	3750,9256	2203	4300	6503	SO:0001819	synonymous_variant	22936	exon7			TACAGCGTCTCTA	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.936C>T	5.37:g.95236415G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	179	6	0.0335196	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			G|0.697;A|0.303	0.303	strong		0.413	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		A	95236415	G	A	95236415	2	1	27	1	0	0	0	0	0	0	0	1	5063	1136	40	1		1	ELL2	5	95236415	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5084826	95236415	85678845	169	21857										
PJA2	9867	hgsc.bcm.edu	37	chr5	108672946	108672946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caaggtttagggtgcttctgCaatactgtcatttgaaggtg	12	6	2	1	rs246105	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:108672946C>T	ENST00000361189.2	-	10	2352	c.2113G>A	c.(2113-2115)Gca>Aca	p.A705T	PJA2_ENST00000361557.3_Missense_Mutation_p.A705T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	705	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A -> T (in dbSNP:rs246105).		long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GGTGCTTCTGCAATACTGTCA	0.423													C|||	1497	0.298922	0.1172	0.2781	5008	,	,		14077	0.5565		0.2475	False		,,,				2504	0.3466				p.A705T		Atlas-SNP	.											.	PJA2	53	.	0			c.G2113A						PASS	.	C	THR/ALA	713,3691	293.8+/-282.8	67,579,1556	100	97	98		2113	0.4	0	5	dbSNP_79	98	2016,6584	352.2+/-328.6	242,1532,2526	yes	missense	PJA2	NM_014819.4	58	309,2111,4082	TT,TC,CC		23.4419,16.1898,20.9859	benign	705/709	108672946	2729,10275	2202	4300	6502	SO:0001583	missense	9867	exon10			CTTCTGCAATACT	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.2113G>A	5.37:g.108672946C>T	ENSP00000354775:p.Ala705Thr	Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	228	16	0.0701754	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	687	0.31456043956043955	64	0.13008130081300814	96	0.26519337016574585	338	0.5909090909090909	189	0.24934036939313983	C	12.36	1.913297	0.33815	0.161898	0.234419	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11169	2.8;2.8	5.9	0.451	0.16629	.	0.691756	0.13453	N	0.386738	T	0.00012	0.0000	N	0.08118	0	0.51482	P	7.299999999998974E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	9	0.48119	T	0.1	-5.7798	3.7465	0.08549	0.2706:0.3504:0.0:0.379	rs246105;rs17292734;rs17745933;rs58995813;rs246105	705	O43164	PJA2_HUMAN	T	705	ENSP00000354775:A705T;ENSP00000355284:A705T	ENSP00000354775:A705T	A	-	1	0	PJA2	108700845	0.225000	0.23685	0.026000	0.17262	0.307000	0.27823	0.041000	0.13927	0.125000	0.18397	0.650000	0.86243	GCA	C|0.735;T|0.265	0.265	strong		0.423	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		T	108672946	C	T	108672946	3	4	27	1	0	0	0	0	1	0	0	0	11962	710	25	2	17	2	PJA2	5	108672946	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	13436531	108672946	72242314	170	21858										
MEGF10	84466	hgsc.bcm.edu	37	chr5	126674869	126674869	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttgatcaaatttactacacGagctgcactgacattctaaa	5	9	2	2	rs12654455	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:126674869G>A	ENST00000274473.6	+	4	441	c.174G>A	c.(172-174)acG>acA	p.T58T	MEGF10_ENST00000508365.1_Silent_p.T58T|MEGF10_ENST00000418761.2_Silent_p.T58T|MEGF10_ENST00000503335.2_Silent_p.T58T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	58	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTTACTACACGAGCTGCACTG	0.383													g|||	237	0.0473243	0.0083	0.0086	5008	,	,		18088	0.0972		0.0159	False		,,,				2504	0.1084				p.T58T		Atlas-SNP	.											.	MEGF10	152	.	0			c.G174A						PASS	.	A		21,4385	28.1+/-56.4	0,21,2182	123	110	114		174	-11.8	0.1	5	dbSNP_120	114	105,8495	57.2+/-118.5	0,105,4195	no	coding-synonymous	MEGF10	NM_032446.2		0,126,6377	AA,AG,GG		1.2209,0.4766,0.9688		58/1141	126674869	126,12880	2203	4300	6503	SO:0001819	synonymous_variant	84466	exon4			CTACACGAGCTGC	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.174G>A	5.37:g.126674869G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_032446	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																			G|0.975;A|0.025	0.025	strong		0.383	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		A	126674869	G	A	126674869	2	1	27	1	0	0	0	0	0	0	0	1	9460	1045	37	1		1	MEGF10	5	126674869	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	18001923	126674869	54240391	171	21859										
DND1	373863	hgsc.bcm.edu	37	chr5	140050894	140050894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagtcactgtttaaccatgGtacctgcctcagccccagca	9	14	2	0	rs201638404		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:140050894G>C	ENST00000542735.1	-	4	1089	c.1046C>G	c.(1045-1047)aCc>aGc	p.T349S	WDR55_ENST00000358337.5_3'UTR|WDR55_ENST00000520764.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	349					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAACCATGGTACCTGCCTC	0.602																																					p.T349S		Atlas-SNP	.											DND1,NS,carcinoma,-1,1	DND1	15	1	0			c.C1046G						scavenged	.						75	61	66					5																	140050894		1959	3964	5923	SO:0001583	missense	373863	exon4			ACCATGGTACCTG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.1046C>G	5.37:g.140050894G>C	ENSP00000445366:p.Thr349Ser	Somatic	313	7	0.0223642		WXS	Illumina HiSeq	Phase_I	313	13	0.0415335	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043394	0.19748	.	.	ENSG00000256453	ENST00000542735	T	0.30182	1.54	4.97	0.117	0.14652	.	1.006470	0.07994	N	0.987573	T	0.16769	0.0403	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	10	0.27082	T	0.32	0.0017	3.9136	0.09213	0.3271:0.0:0.5115:0.1614	.	349	Q8IYX4	DND1_HUMAN	S	349	ENSP00000445366:T349S	ENSP00000445366:T349S	T	-	2	0	DND1	140031078	0.002000	0.14202	0.000000	0.03702	0.312000	0.27988	0.583000	0.23849	0.101000	0.17610	0.551000	0.68910	ACC	G|0.979;C|0.021	0.021	strong		0.602	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		C	140050894	G	C	140050894	3	2	27	1	0	0	0	0	1	0	0	0	4666	1261	44	4	19	4	DND1	5	140050894	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	13376025	140050894	40864366	172	21860										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0				p.A526A		Atlas-SNP	.											PCDHB7,NS,carcinoma,0,4	PCDHB7	231	4	1	Substitution - coding silent(1)	lung(1)	c.G1578T						scavenged	.						62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T		Somatic	218	3	0.0137615		WXS	Illumina HiSeq	Phase_I	233	6	0.0257511	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.	.	weak		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553994	G	T	140553994	2	4	27	1	0	0	0	0	0	0	0	1	11547	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	503100	140553994	40361266	173	21861										
PCDHGA1	56114	hgsc.bcm.edu	37	chr5	140711241	140711241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggtgcggggctcatggctaaAgttaaggtactgatcaaagt	14	6	2	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:140711241A>C	ENST00000517417.1	+	1	990	c.990A>C	c.(988-990)aaA>aaC	p.K330N	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.K330N	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	330	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGGCTAAAGTTAAGGTAC	0.418																																					p.K330N		Atlas-SNP	.											.	PCDHGA1	397	.	0			c.A990C						PASS	.						70	69	70					5																	140711241		2203	4300	6503	SO:0001583	missense	56114	exon1			GGCTAAAGTTAAG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.990A>C	5.37:g.140711241A>C	ENSP00000431083:p.Lys330Asn	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	183	26	0.142077	NM_018912	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	1.463	-0.561832	0.03939	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01838	4.61;4.61	3.99	2.81	0.32909	Cadherin (5);Cadherin-like (1);	0.118831	0.37348	N	0.002129	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;P	0.34815	0.061;0.47	B;B	0.33121	0.038;0.158	T	0.47873	-0.9083	10	0.72032	D	0.01	.	2.7623	0.05310	0.5109:0.0:0.1932:0.2958	.	330;330	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	N	330	ENSP00000431083:K330N;ENSP00000367345:K330N	ENSP00000367345:K330N	K	+	3	2	PCDHGA1	140691425	0.000000	0.05858	0.999000	0.59377	0.094000	0.18550	-1.649000	0.01993	0.698000	0.31739	-0.297000	0.09499	AAA	.	.	none		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		C	140711241	A	C	140711241	3	2	27	1	0	0	0	0	1	0	0	0	11550	69	3	5	992	5	PCDHGA1	5	140711241	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	157247	140711241	40204019	174	21862										
PCDHGA4	56111	hgsc.bcm.edu	37	chr5	140735617	140735617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgacgtattctttccggaaaGtaagagacaaaatatcacag	8	7	2	2	rs142728816	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:140735617G>T	ENST00000571252.1	+	1	850	c.850G>T	c.(850-852)Gta>Tta	p.V284L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	284	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCGGAAAGTAAGAGACAA	0.438													.|||	30	0.00599042	0.0	0.0	5008	,	,		21582	0.0278		0.0	False		,,,				2504	0.002				p.V284L		Atlas-SNP	.											.	PCDHGA4	150	.	0			c.G850T						PASS	.						50	51	51					5																	140735617		1913	4125	6038	SO:0001583	missense	56111	exon1			CGGAAAGTAAGAG	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.850G>T	5.37:g.140735617G>T	ENSP00000458570:p.Val284Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	69	4	0.057971	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			G|0.994;T|0.006	0.006	strong		0.438	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140735617	G	T	140735617	3	4	27	1	0	0	0	0	1	0	0	0	11556	1029	36	4	852	4	PCDHGA4	5	140735617	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	24376	140735617	40179643	175	21863										
SH3RF2	153769	hgsc.bcm.edu	37	chr5	145393364	145393364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaaaggtcgccagtcatccCgcacaaaaaacctgtccctg	7	15	1	0	rs758037	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:145393364C>T	ENST00000511217.1	+	4	851	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R267C			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	267			R -> C (in dbSNP:rs758037). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTCATCCCGCACAAAAAA	0.527													C|||	3050	0.609026	0.3986	0.5692	5008	,	,		21429	0.7212		0.6312	False		,,,				2504	0.7832				p.R267C		Atlas-SNP	.											.	SH3RF2	58	.	0			c.C799T						PASS	.	C	CYS/ARG	1926,2480	548.2+/-377.5	403,1120,680	81	72	75		799	1.2	0	5	dbSNP_86	75	5245,3355	642.9+/-399.9	1604,2037,659	yes	missense	SH3RF2	NM_152550.3	180	2007,3157,1339	TT,TC,CC		39.0116,43.7131,44.8639	probably-damaging	267/730	145393364	7171,5835	2203	4300	6503	SO:0001583	missense	153769	exon5			TCATCCCGCACAA	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.799C>T	5.37:g.145393364C>T	ENSP00000424497:p.Arg267Cys	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	120	6	0.05	NM_152550	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	1340	0.6135531135531136	218	0.44308943089430897	221	0.6104972375690608	406	0.7097902097902098	495	0.6530343007915568	C	10.01	1.233918	0.22626	0.437131	0.609884	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.04654	3.58;3.58	5.32	1.22	0.21188	Src homology-3 domain (1);	0.630714	0.16224	N	0.223914	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.11235	0.004	B	0.01281	0.0	T	0.06391	-1.0829	9	0.54805	T	0.06	-1.4343	5.6818	0.17780	0.3218:0.5332:0.0:0.1451	rs758037;rs3733938;rs52807951;rs57396297;rs758037	267	Q8TEC5	SH3R2_HUMAN	C	267	ENSP00000352028:R267C;ENSP00000424497:R267C	ENSP00000352028:R267C	R	+	1	0	SH3RF2	145373557	0.001000	0.12720	0.001000	0.08648	0.671000	0.39405	0.651000	0.24873	-0.025000	0.13918	-0.230000	0.12252	CGC	C|0.411;T|0.589	0.589	strong		0.527	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145393364	C	T	145393364	3	4	27	1	0	0	0	0	1	0	0	0	14259	652	23	1	813	1	SH3RF2	5	145393364	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4657747	145393364	35521896	176	21864										
SPINK5	11005	hgsc.bcm.edu	37	chr5	147481430	147481430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cccatccagggcccagatggAaaaatgcatggcaacacctg	10	13	0	1	rs6896303	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:147481430A>G	ENST00000256084.7	+	15	1431	c.1389A>G	c.(1387-1389)ggA>ggG	p.G463G	SPINK5_ENST00000359874.3_Silent_p.G463G|SPINK5_ENST00000398454.1_Silent_p.G463G	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	463	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G463G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGATGGAAAAATGCATG	0.502													G|||	2168	0.432907	0.1989	0.6167	5008	,	,		16733	0.4851		0.4861	False		,,,				2504	0.5102				p.G463G		Atlas-SNP	.											SPINK5,NS,carcinoma,0,1	SPINK5	245	1	1	Substitution - coding silent(1)	stomach(1)	c.A1389G						scavenged	.	G	,,	956,2828		123,710,1059	108	105	106		1389,1389,1389	0.3	0.7	5	dbSNP_116	106	4220,4016		1070,2080,968	no	coding-synonymous,coding-synonymous,coding-synonymous	SPINK5	NM_001127698.1,NM_001127699.1,NM_006846.3	,,	1193,2790,2027	GG,GA,AA		48.7615,25.2643,43.0616	,,	463/1095,463/917,463/1065	147481430	5176,6844	1892	4118	6010	SO:0001819	synonymous_variant	11005	exon15			AGATGGAAAAATG	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1389A>G	5.37:g.147481430A>G		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	115	4	0.0347826	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																			A|0.545;G|0.455	0.455	strong		0.502	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		G	147481430	A	G	147481430	2	3	27	1	0	0	0	0	0	0	0	1	15061	233	9	2		2	SPINK5	5	147481430	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2088066	147481430	33433830	177	21865										
SPINK5	11005	hgsc.bcm.edu	37	chr5	147488367	147488367	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagaagaaaaagggaaagtCgaggctgaaaaagttaagag	13	2	0	4	rs2303071	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:147488367C>T	ENST00000256084.7	+	18	1701	c.1659C>T	c.(1657-1659)gtC>gtT	p.V553V	SPINK5_ENST00000359874.3_Silent_p.V553V|SPINK5_ENST00000398454.1_Silent_p.V553V	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	553					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V553V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aagggaaagtcgaggctgaaa	0.373													T|||	3015	0.602037	0.8086	0.6715	5008	,	,		18248	0.4851		0.4901	False		,,,				2504	0.5092				p.V553V		Atlas-SNP	.											SPINK5_ENST00000359874,NS,carcinoma,0,3	SPINK5	245	3	1	Substitution - coding silent(1)	stomach(1)	c.C1659T						scavenged	.	T	,,	2801,869		1073,655,107	145	152	150		1659,1659,1659	1.4	0	5	dbSNP_100	150	4240,3922		1090,2060,931	no	coding-synonymous,coding-synonymous,coding-synonymous	SPINK5	NM_001127698.1,NM_001127699.1,NM_006846.3	,,	2163,2715,1038	TT,TC,CC		48.0519,23.6785,40.4919	,,	553/1095,553/917,553/1065	147488367	7041,4791	1835	4081	5916	SO:0001819	synonymous_variant	11005	exon18			GAAAGTCGAGGCT	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1659C>T	5.37:g.147488367C>T		Somatic	584	0	0		WXS	Illumina HiSeq	Phase_I	497	17	0.0342052	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																			C|0.416;T|0.584	0.584	strong		0.373	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147488367	C	T	147488367	2	4	27	1	0	0	0	0	0	0	0	1	15061	871	31	1		1	SPINK5	5	147488367	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	6937	147488367	33426893	178	21866										
PPARGC1B	133522	hgsc.bcm.edu	37	chr5	149212510	149212510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggcgatggtgcaactcataCgctacatgcacacctactgc	9	13	1	0	rs11959820	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:149212510C>A	ENST00000309241.5	+	5	906	c.874C>A	c.(874-876)Cgc>Agc	p.R292S	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R253S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R292S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R228S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	292			R -> S (in dbSNP:rs11959820). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15863669}.		actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCAACTCATACGCTACATGCA	0.657													C|||	525	0.104832	0.1997	0.0461	5008	,	,		16955	0.128		0.0308	False		,,,				2504	0.0706				p.R292S		Atlas-SNP	.											PPARGC1B,NS,carcinoma,0,1	PPARGC1B	74	1	0			c.C874A						PASS	.	C	SER/ARG,SER/ARG,SER/ARG	776,3630	307.5+/-290.0	63,650,1490	48	57	54		757,682,874	5.8	1	5	dbSNP_120	54	292,8308	106.0+/-166.9	5,282,4013	yes	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	110,110,110	68,932,5503	AA,AC,CC		3.3953,17.6123,8.2116	probably-damaging,probably-damaging,probably-damaging	253/985,228/960,292/1024	149212510	1068,11938	2203	4300	6503	SO:0001583	missense	133522	exon5			CTCATACGCTACA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.874C>A	5.37:g.149212510C>A	ENSP00000312649:p.Arg292Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	89	6	0.0674157	NM_133263	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	196	0.08974358974358974	89	0.18089430894308944	16	0.04419889502762431	66	0.11538461538461539	25	0.032981530343007916	C	20.6	4.011421	0.75046	0.176123	0.033953	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.12465	2.69;2.78;2.79;2.68	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.00073	0.0002	M	0.61703	1.905	0.26653	P	0.9720632	D;D;D;D;D	0.76494	0.999;0.994;0.999;0.999;0.998	D;P;D;P;D	0.67382	0.951;0.879;0.951;0.894;0.95	T	0.00004	-1.2558	9	0.56958	D	0.05	-22.9034	19.976	0.97309	0.0:1.0:0.0:0.0	rs11959820;rs52793886;rs58815357;rs11959820	271;271;253;292;292	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	S	253;292;292;228	ENSP00000353638:R253S;ENSP00000377855:R292S;ENSP00000312649:R292S;ENSP00000384403:R228S	ENSP00000312649:R292S	R	+	1	0	PPARGC1B	149192703	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	4.437000	0.59955	2.713000	0.92767	0.655000	0.94253	CGC	C|0.912;A|0.087	0.087	strong		0.657	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149212510	C	A	149212510	3	1	27	1	0	0	0	0	1	0	0	0	12301	536	19	4	899	4	PPARGC1B	5	149212510	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1724143	149212510	31702750	179	21867										
RNF145	153830	hgsc.bcm.edu	37	chr5	158630643	158630643	+	5'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	catgttgtttttttttttctTtttttttttcttggagaaga	6	3	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:158630643T>C	ENST00000424310.2	-	0	342				RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000274542.2_Missense_Mutation_p.K23E|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttctttttttttttc	0.363																																					p.K25E		Atlas-SNP	.											RNF145,NS,carcinoma,+1,2	RNF145	110	2	0			c.A73G						scavenged	.						31	34	33					5																	158630643		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830	exon2			TTTTCTTTTTTTT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-18A>G	5.37:g.158630643T>C		Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	67	2	0.0298507	NM_001199380	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	5.631	0.301084	0.10678	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77098	-1.06;-1.04;-1.04;-1.07;-1.03	2.6	1.39	0.22231	.	6.604780	0.00166	N	0.000010	T	0.60663	0.2286	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.51553	-0.8691	10	0.54805	T	0.06	.	4.5107	0.11910	0.0:0.1769:0.0:0.8231	.	11;12;9;25;23	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	23;11;12;25;9	ENSP00000274542:K23E;ENSP00000430753:K11E;ENSP00000445115:K12E;ENSP00000430955:K25E;ENSP00000429071:K9E	ENSP00000274542:K23E	K	-	1	0	RNF145	158563221	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.077000	0.14738	0.083000	0.17047	0.397000	0.26171	AAG	.	.	none		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158630643	T	C	158630643	1	2	27	0	1	0	0	0	0	0	0	0	13447	1850	64	2		2	RNF145	5	158630643	5'UTR	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	9418133	158630643	22284617	180	21868										
DOK3	79930	hgsc.bcm.edu	37	chr5	176936819	176936819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcacctggttcagctgggcaCgcgcgtctgatcgcagtctg	14	13	3	1	rs3749728	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:176936819C>G	ENST00000357198.4	-	1	39	c.35G>C	c.(34-36)cGt>cCt	p.R12P	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	12			R -> P (in dbSNP:rs3749728).		Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			CAGCTGGGCACGCGCGTCTGA	0.711													C|||	734	0.146565	0.2466	0.098	5008	,	,		12252	0.1677		0.0517	False		,,,				2504	0.1217				p.R12P		Atlas-SNP	.											.	DOK3	41	.	0			c.G35C						PASS	.	C	,,PRO/ARG	783,3621	294.4+/-283.1	73,637,1492	52	52	52		,,35	-1.2	0	5	dbSNP_107	52	456,8144	133.1+/-190.7	6,444,3850	yes	intron,intron,missense	DOK3	NM_001144875.1,NM_001144876.1,NM_024872.2	,,103	79,1081,5342	GG,GC,CC		5.3023,17.7793,9.5278	,,benign	,,12/497	176936819	1239,11765	2202	4300	6502	SO:0001583	missense	79930	exon1			TGGGCACGCGCGT	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.35G>C	5.37:g.176936819C>G	ENSP00000349727:p.Arg12Pro	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	161	9	0.0559006	NM_024872	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	CCDS4426.1	307	0.14056776556776557	120	0.24390243902439024	29	0.08011049723756906	113	0.19755244755244755	45	0.059366754617414245	C	1.719	-0.497217	0.04291	0.177793	0.053023	ENSG00000146094	ENST00000357198	T	0.21191	2.02	2.88	-1.2	0.09554	.	4.401390	0.01202	U	0.007607	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.999999999950489E-6	B	0.24483	0.104	B	0.17979	0.02	T	0.37572	-0.9700	9	0.87932	D	0	.	6.1537	0.20326	0.0:0.2892:0.0:0.7108	rs3749728;rs60122350;rs3749728	12	Q7L591	DOK3_HUMAN	P	12	ENSP00000349727:R12P	ENSP00000349727:R12P	R	-	2	0	DOK3	176869425	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.285000	0.08410	-0.168000	0.10853	-1.629000	0.00783	CGT	C|0.892;G|0.108	0.108	strong		0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		G	176936819	C	G	176936819	3	3	27	1	0	0	0	0	1	0	0	0	4698	536	19	4	1831	4	DOK3	5	176936819	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	18306176	176936819	3978441	181	21869										
ZNF354A	6940	hgsc.bcm.edu	37	chr5	178154018	178154018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acccagtgagaccaggttccTatagttctccagcatcacat	7	13	2	1	rs146060491		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr5:178154018T>C	ENST00000335815.2	-	3	339	c.142A>G	c.(142-144)Agg>Ggg	p.R48G		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACCAGGTTCCTATAGTTCTCC	0.473																																					p.R48G		Atlas-SNP	.											ZNF354A,NS,carcinoma,+1,1	ZNF354A	74	1	0			c.A142G						PASS	.	T	GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	106	106	106		142	2.4	0	5	dbSNP_134	106	0,8600		0,0,4300	no	missense	ZNF354A	NM_005649.2	125	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	48/606	178154018	1,13005	2203	4300	6503	SO:0001583	missense	6940	exon3			GGTTCCTATAGTT	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.142A>G	5.37:g.178154018T>C	ENSP00000337122:p.Arg48Gly	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	107	5	0.046729	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.676225	0.00751	2.27E-4	0.0	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.01981	4.52;4.52	3.63	2.44	0.29823	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	N	0.20483	0.58	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.47761	-0.9092	9	0.36615	T	0.2	-0.5793	3.9416	0.09329	0.0:0.1171:0.215:0.6679	.	48	O60765	Z354A_HUMAN	G	48	ENSP00000337122:R48G;ENSP00000429675:R48G	ENSP00000337122:R48G	R	-	1	2	ZNF354A	178086624	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	0.135000	0.15952	0.569000	0.29329	0.459000	0.35465	AGG	T|1.000;C|0.000	0.000	weak		0.473	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		C	178154018	T	C	178154018	3	2	27	1	0	0	0	0	1	0	0	0	17861	1521	53	3	1687	3	ZNF354A	5	178154018	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1217199	178154018	2761242	182	21870										
WRNIP1	56897	hgsc.bcm.edu	37	chr6	2784571	2784571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtggcaggtctggcagacccGtctgcgttaacacaagcggt	14	11	2	1	rs160703	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:2784571G>A	ENST00000380773.4	+	6	1865	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	WRNIP1_ENST00000380764.1_Silent_p.P168P|WRNIP1_ENST00000380771.4_Silent_p.P527P|WRNIP1_ENST00000380769.4_Silent_p.P332P	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGGCAGACCCGTCTGCGTTAA	0.502													G|||	1052	0.210064	0.0968	0.2147	5008	,	,		20281	0.256		0.1968	False		,,,				2504	0.3262				p.P552P		Atlas-SNP	.											.	WRNIP1	39	.	0			c.G1656A						PASS	.	G	,	464,3942	219.1+/-236.9	32,400,1771	113	88	96		1656,1581	-11.1	0.1	6	dbSNP_79	96	1689,6911	308.8+/-309.1	169,1351,2780	no	coding-synonymous,coding-synonymous	WRNIP1	NM_020135.2,NM_130395.1	,	201,1751,4551	AA,AG,GG		19.6395,10.5311,16.5539	,	552/666,527/641	2784571	2153,10853	2203	4300	6503	SO:0001819	synonymous_variant	56897	exon6			AGACCCGTCTGCG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1656G>A	6.37:g.2784571G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_020135		Silent	SNP	ENST00000380773.4	37	CCDS4475.1																																																																																			G|0.824;A|0.176	0.176	strong		0.502	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		A	2784571	G	A	2784571	2	1	27	1	0	0	0	0	0	0	0	1	17400	1132	40	1		1	WRNIP1	6	2784571	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		2784571	168330496	183	21871										
FARS2	10667	hgsc.bcm.edu	37	chr6	5431340	5431340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcctttgagatggagatcaActttcatggagaatggctgg	12	6	2	3	rs11243011	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:5431340A>G	ENST00000324331.6	+	4	1175	c.839A>G	c.(838-840)aAc>aGc	p.N280S	FARS2_ENST00000274680.4_Missense_Mutation_p.N280S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	280			N -> S (in dbSNP:rs11243011). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.7}.		gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.N280S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATGGAGATCAACTTTCATGGA	0.418													A|||	1178	0.235224	0.0552	0.2349	5008	,	,		19965	0.4772		0.161	False		,,,				2504	0.3057				p.N280S		Atlas-SNP	.											FARS2,NS,carcinoma,0,1	FARS2	33	1	1	Substitution - Missense(1)	stomach(1)	c.A839G						scavenged	.	A	SER/ASN	325,4081	171.9+/-202.1	8,309,1886	193	178	183		839	3.1	1	6	dbSNP_120	183	1654,6946	305.0+/-307.2	166,1322,2812	yes	missense	FARS2	NM_006567.3	46	174,1631,4698	GG,GA,AA		19.2326,7.3763,15.2161	benign	280/452	5431340	1979,11027	2203	4300	6503	SO:0001583	missense	10667	exon4			AGATCAACTTTCA	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.839A>G	6.37:g.5431340A>G	ENSP00000316335:p.Asn280Ser	Somatic	161	1	0.00621118		WXS	Illumina HiSeq	Phase_I	151	8	0.0529801	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	473	0.21657509157509158	29	0.05894308943089431	78	0.2154696132596685	246	0.43006993006993005	120	0.158311345646438	A	10.50	1.366451	0.24771	0.073763	0.192326	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533	T;T;T	0.62639	0.01;0.01;0.01	5.5	3.13	0.36017	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.385244	0.29932	N	0.010831	T	0.14184	0.0343	N	0.02916	-0.46	0.32635	P	0.5214190000000001	B	0.06786	0.001	B	0.04013	0.001	T	0.09100	-1.0690	9	0.17369	T	0.5	-15.1623	8.9638	0.35863	0.8529:0.0:0.1471:0.0	rs11243011;rs52836920;rs56643167;rs60399479;rs11243011	280	O95363	SYFM_HUMAN	S	280;130;280;76	ENSP00000274680:N280S;ENSP00000316335:N280S;ENSP00000392525:N76S	ENSP00000274680:N280S	N	+	2	0	FARS2	5376339	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.367000	0.52350	0.402000	0.25451	0.477000	0.44152	AAC	A|0.822;G|0.178	0.178	strong		0.418	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		G	5431340	A	G	5431340	3	3	27	1	0	0	0	0	1	0	0	0	5678	43	2	2	849	2	FARS2	6	5431340	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2646769	5431340	165683727	184	21872										
KIF13A	63971	hgsc.bcm.edu	37	chr6	17764996	17764996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tactgctggtggtagggctaCgggacacttctttctccaag	12	10	2	0	rs184686655	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:17764996C>T	ENST00000259711.6	-	39	4868	c.4763G>A	c.(4762-4764)cGt>cAt	p.R1588H	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540H|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553H|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1540H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19335	0.0		0.0	False		,,,				2504	0.0				p.R1588H		Atlas-SNP	.											.	KIF13A	276	.	0			c.G4763A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4005		0,1,2002	84	83	84		4658,4619,4619,4763	6.1	1	6		84	3,8327		0,3,4162	yes	missense,missense,missense,missense	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	29,29,29,29	0,4,6164	TT,TC,CC		0.036,0.025,0.0324	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1553/1771,1540/1758,1540/1750,1588/1806	17764996	4,12332	2003	4165	6168	SO:0001583	missense	63971	exon39			GGGCTACGGGACA	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4763G>A	6.37:g.17764996C>T	ENSP00000259711:p.Arg1588His	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	86	28	0.325581	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	31	5.074668	0.94000	2.5E-4	3.6E-4	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	6.07	6.07	0.98685	.	0.275476	0.29280	N	0.012608	T	0.53126	0.1777	L	0.34521	1.04	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;P	0.81914	0.995;0.897;0.951;0.897	T	0.41431	-0.9509	10	0.36615	T	0.2	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1540;1553;1588;1540	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	H	1540;592;1588;1553;1540;1553	ENSP00000368091:R1540H;ENSP00000425616:R592H;ENSP00000259711:R1588H;ENSP00000368103:R1553H;ENSP00000368120:R1540H;ENSP00000368093:R1553H	ENSP00000259711:R1588H	R	-	2	0	KIF13A	17872975	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.469000	0.80959	2.890000	0.99128	0.585000	0.79938	CGT	C|1.000;T|0.000	0.000	strong		0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17764996	C	T	17764996	3	4	27	1	0	0	0	0	1	0	0	0	8274	536	19	1	683	1	KIF13A	6	17764996	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	12333656	17764996	153350071	185	21873										
KIF13A	63971	hgsc.bcm.edu	37	chr6	17831419	17831419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcatcccccaccttgataccGgacatctccagggaaatccc	6	17	2	1	rs2277080	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:17831419G>A	ENST00000259711.6	-	13	1419	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	KIF13A_ENST00000378843.2_Silent_p.S438S|KIF13A_ENST00000378816.5_Silent_p.S438S|KIF13A_ENST00000378826.2_Silent_p.S438S|KIF13A_ENST00000378814.5_Silent_p.S438S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	438					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTTGATACCGGACATCTCCA	0.408													G|||	1199	0.239417	0.1566	0.1758	5008	,	,		22334	0.2004		0.2803	False		,,,				2504	0.3947				p.S438S		Atlas-SNP	.											.	KIF13A	276	.	0			c.C1314T						PASS	.	G	,,,	645,3153		59,527,1313	124	121	122		1314,1314,1314,1314	-7.8	0.2	6	dbSNP_100	122	2399,5857		341,1717,2070	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	400,2244,3383	AA,AG,GG		29.0577,16.9826,25.253	,,,	438/1771,438/1758,438/1750,438/1806	17831419	3044,9010	1899	4128	6027	SO:0001819	synonymous_variant	63971	exon13			GATACCGGACATC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1314C>T	6.37:g.17831419G>A		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	140	8	0.0571429	NM_001105567	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																			G|0.777;A|0.223	0.223	strong		0.408	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			A	17831419	G	A	17831419	2	1	27	1	0	0	0	0	0	0	0	1	8274	1103	39	1		1	KIF13A	6	17831419	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	66423	17831419	153283648	186	21874										
HIST1H2BK	85236	hgsc.bcm.edu	37	chr6	27114569	27114569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	17	9	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.E3E|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																					p.E3E		Atlas-SNP	.											HIST1H2BK_ENST00000396891,NS,carcinoma,-2,2	HIST1H2BK	68	2	0			c.A9G						scavenged	.						51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	85236	exon1			CGCTGGTTCCGGC	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C		Somatic	108	5	0.0462963		WXS	Illumina HiSeq	Phase_I	91	7	0.0769231	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.	.	none		0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		C	27114569	T	C	27114569	2	2	27	1	0	0	0	0	0	0	0	1	7150	1722	60	2		2	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	9283150	27114569	144000498	187	21875										
DDR1	780	hgsc.bcm.edu	37	chr6	30864829	30864829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacagccctcaagatctggtTagtcttgatttcccccttaa	7	12	3	2	rs1049623	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:30864829T>C	ENST00000324771.8	+	16	2456	c.1908T>C	c.(1906-1908)gtT>gtC	p.V636V	DDR1_ENST00000452441.1_Silent_p.V636V|DDR1_ENST00000376575.3_Silent_p.V636V|DDR1_ENST00000418800.2_Silent_p.V599V|DDR1_ENST00000376568.3_Silent_p.V636V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.V617V|DDR1_ENST00000513240.1_Silent_p.V636V|DDR1_ENST00000376567.2_Silent_p.V599V|DDR1_ENST00000376570.4_Silent_p.V599V|DDR1_ENST00000454612.2_Silent_p.V599V|DDR1_ENST00000376569.3_Silent_p.V599V|DDR1_ENST00000361741.4_Silent_p.V303V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AAGATCTGGTTAGTCTTGATT	0.512													C|||	2683	0.535743	0.4531	0.5245	5008	,	,		14894	0.6667		0.3847	False		,,,				2504	0.6759				p.V636V		Atlas-SNP	.											DDR1_ENST00000376575,NS,adenoma,0,3	DDR1	213	3	0			c.T1908C	GRCh37	CM076148	DDR1	M	rs1049623	PASS	.	C	,,,,,	2008,2398	615.9+/-392.7	473,1062,668	203	181	189		,1470,1851,1797,1908,1908	5.3	1	6	dbSNP_86	189	3287,5313	648.3+/-400.5	620,2047,1633	no	utr-3,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DDR1	NM_001202521.1,NM_001202522.1,NM_001202523.1,NM_001954.4,NM_013993.2,NM_013994.2	,,,,,	1093,3109,2301	CC,CT,TT		38.2209,45.5742,40.712	,,,,,	,490/768,617/895,599/877,636/914,636/920	30864829	5295,7711	2203	4300	6503	SO:0001819	synonymous_variant	780	exon13			TCTGGTTAGTCTT	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1908T>C	6.37:g.30864829T>C		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	158	7	0.0443038	NM_013994	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	CCDS34385.1	1109	0.5077838827838828	252	0.5121951219512195	189	0.5220994475138122	349	0.6101398601398601	319	0.420844327176781	C	10.41	1.343892	0.24339	0.455742	0.382209	ENSG00000204580	ENST00000514434	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.79	0.29114	0.0:0.7501:0.1626:0.0873	rs1049623;rs1264316;rs2228636;rs3173380;rs17413087;rs58133601;rs1049623	.	.	.	Q	128	.	.	X	+	1	0	DDR1	30972808	0.012000	0.17670	1.000000	0.80357	0.871000	0.50021	0.586000	0.23894	1.250000	0.43966	-0.215000	0.12644	TAG	T|0.539;C|0.461	0.461	strong		0.512	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		C	30864829	T	C	30864829	2	2	27	1	0	0	0	0	0	0	0	1	4336	1741	61	2		2	DDR1	6	30864829	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3750260	30864829	140250238	188	21876										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954729	30954729	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcacagccaccaactctgaGtccagcacgacctccagtgg	10	16	1	1	rs111834205	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:30954729G>C	ENST00000376296.3	+	2	1018	c.777G>C	c.(775-777)gaG>gaC	p.E259D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	259	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAACTCTGAGTCCAGCACGA	0.622																																					p.E259D		Atlas-SNP	.											MUC21,bladder,carcinoma,0,1	MUC21	98	1	0			c.G777C						scavenged	.						143	144	144					6																	30954729		2203	4300	6503	SO:0001583	missense	394263	exon2			CTCTGAGTCCAGC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.777G>C	6.37:g.30954729G>C	ENSP00000365473:p.Glu259Asp	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	126	5	0.0396825	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	128	0.05860805860805861	26	0.052845528455284556	42	0.11602209944751381	34	0.05944055944055944	26	0.03430079155672823	G	11.64	1.699361	0.30142	.	.	ENSG00000204544	ENST00000376296	T	0.01787	4.64	4.28	-5.78	0.02362	.	.	.	.	.	T	0.00412	0.0013	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.44726	-0.9309	8	.	.	.	.	6.5913	0.22647	0.2903:0.3922:0.3175:0.0	.	259	Q5SSG8	MUC21_HUMAN	D	259	ENSP00000365473:E259D	.	E	+	3	2	MUC21	31062708	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.711000	0.00817	-0.718000	0.04949	-0.348000	0.07805	GAG	G|0.938;C|0.062	0.062	strong		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954729	G	C	30954729	3	2	27	1	0	0	0	0	1	0	0	0	9977	1020	36	4	783	4	MUC21	6	30954729	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	89900	30954729	140160338	189	21877										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954963	30954963	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accaactctgagtccagcacGacctccagtggggccagcac	10	16	1	1	rs55956203	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:30954963G>A	ENST00000376296.3	+	2	1252	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	337	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T337T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTCCAGCACGACCTCCAGTG	0.627																																					p.T337T		Atlas-SNP	.											MUC21,NS,carcinoma,0,1	MUC21	98	1	1	Substitution - coding silent(1)	prostate(1)	c.G1011A						scavenged	.						135	136	136					6																	30954963		2203	4296	6499	SO:0001819	synonymous_variant	394263	exon2			CAGCACGACCTCC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1011G>A	6.37:g.30954963G>A		Somatic	89	3	0.0337079		WXS	Illumina HiSeq	Phase_I	116	6	0.0517241	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																			G|0.932;A|0.068	0.068	strong		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954963	G	A	30954963	2	1	27	1	0	0	0	0	0	0	0	1	9977	1045	37	1		1	MUC21	6	30954963	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	234	30954963	140160104	190	21878										
C6orf15	29113	hgsc.bcm.edu	37	chr6	31079894	31079894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggaagccatctgatgcaggcAcgctgagcttcagaggaacc	13	11	2	3	rs2233977	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:31079894A>G	ENST00000259870.3	-	2	245	c.242T>C	c.(241-243)gTg>gCg	p.V81A	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	81			V -> A (in dbSNP:rs2233977).		extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TGATGCAGGCACGCTGAGCTT	0.607													G|||	1071	0.213858	0.087	0.1974	5008	,	,		16805	0.3899		0.169	False		,,,				2504	0.2618				p.V81A		Atlas-SNP	.											C6orf15,NS,carcinoma,-1,1	C6orf15	29	1	0			c.T242C						scavenged	.	G	ALA/VAL	464,3942	764.3+/-413.3	21,422,1760	61	67	65		242	-8.4	0	6	dbSNP_98	65	1456,7144	744.7+/-407.2	131,1194,2975	yes	missense	C6orf15	NM_014070.2	64	152,1616,4735	GG,GA,AA		16.9302,10.5311,14.7624	benign	81/326	31079894	1920,11086	2203	4300	6503	SO:0001583	missense	29113	exon2			GCAGGCACGCTGA	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.242T>C	6.37:g.31079894A>G	ENSP00000259870:p.Val81Ala	Somatic	85	1	0.0117647		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_014070	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	CCDS4693.1	458	0.2097069597069597	53	0.10772357723577236	54	0.14917127071823205	222	0.3881118881118881	129	0.17018469656992086	G	1.094	-0.663129	0.03428	0.105311	0.169302	ENSG00000204542	ENST00000259870	T	0.05025	3.51	4.61	-8.37	0.00976	.	1.975560	0.02836	N	0.127304	T	0.00412	0.0013	N	0.01267	-0.92	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40515	-0.9559	9	0.07644	T	0.81	-15.0007	5.3978	0.16278	0.3695:0.0:0.2882:0.3423	rs2233977;rs2233977	81	Q6UXA7	CF015_HUMAN	A	81	ENSP00000259870:V81A	ENSP00000259870:V81A	V	-	2	0	C6orf15	31187873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.201000	0.01236	-2.546000	0.00482	-1.841000	0.00585	GTG	A|0.825;G|0.175	0.175	strong		0.607	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		G	31079894	A	G	31079894	3	3	27	1	0	0	0	0	1	0	0	0	2336	159	6	2	739	2	C6orf15	6	31079894	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	124931	31079894	140035173	191	21879										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238009	31238009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagctcagggtgaggggctcTtgcagcccctcgtgctgcat	14	13	2	1	rs1131014	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497				p.Q291Q		Atlas-SNP	.											HLA-C_ENST00000383329,colon,carcinoma,0,2	HLA-C	92	2	0			c.A873G						scavenged	.						23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107	exon4			GGGCTCTTGCAGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.873A>G	6.37:g.31238009T>C		Somatic	54	16	0.296296		WXS	Illumina HiSeq	Phase_I	41	18	0.439024	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG	T|0.651;C|0.349	0.349	strong		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	27	1	0	0	0	0	0	0	0	1	7197	1606	56	3		3	HLA-C	6	31238009	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	158115	31238009	139877058	192	21880										
BAT2	7916	hgsc.bcm.edu	37	chr6	31602967	31602967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggcacagaacgatcacagcGtacagaccgaggcacagagc	12	12	1	3	rs1046089	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:31602967G>A	ENST00000376033.2	+	22	5453	c.5219G>A	c.(5218-5220)cGt>cAt	p.R1740H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1740H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1740	4 X 57 AA type A repeats.		R -> H (in dbSNP:rs1046089). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14656967, ECO:0000269|Ref.6}.			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGATCACAGCGTACAGACCGA	0.622													G|||	1954	0.390176	0.5431	0.3646	5008	,	,		17959	0.3512		0.3449	False		,,,				2504	0.2883				p.R1740H		Atlas-SNP	.											.	PRRC2A	152	.	0			c.G5219A	GRCh37	CM090830	PRRC2A	M	rs1046089	PASS	.	G	HIS/ARG,HIS/ARG	2245,2161	594.2+/-388.2	578,1089,536	85	82	83	http://www.ncbi.nlm.nih.gov/pubmed?term	5219,5219	5.5	1	6	dbSNP_86	83	2971,5629	460.2+/-365.1	516,1939,1845	yes	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	29,29	1094,3028,2381	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	34.5465,49.0468,40.1046	probably-damaging,probably-damaging	1740/2158,1740/2158	31602967	5216,7790	2203	4300	6503	SO:0001583	missense	7916	exon22			CACAGCGTACAGA	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5219G>A	6.37:g.31602967G>A	ENSP00000365201:p.Arg1740His	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	862	0.3946886446886447	262	0.532520325203252	127	0.35082872928176795	202	0.3531468531468531	271	0.3575197889182058	G	15.40	2.822060	0.50739	0.509532	0.345465	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01745	4.66;4.66	5.51	5.51	0.81932	.	0.218848	0.33075	N	0.005319	T	0.01592	0.0051	L	0.36672	1.1	0.27289	P	0.9578908	D	0.52996	0.957	P	0.46339	0.513	T	0.60131	-0.7323	9	0.87932	D	0	0.17	16.4508	0.83990	0.0:0.0:1.0:0.0	rs1046089;rs6913649;rs17207246;rs17845914;rs17857495;rs17858890;rs59917316;rs1046089	1740	P48634	PRC2A_HUMAN	H	1734;1723;1740;1740;965	ENSP00000365175:R1740H;ENSP00000365201:R1740H	ENSP00000365175:R1740H	R	+	2	0	PRRC2A	31710946	0.999000	0.42202	0.983000	0.44433	0.993000	0.82548	3.354000	0.52254	2.873000	0.98535	0.561000	0.74099	CGT	G|0.611;A|0.389	0.389	strong		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31602967	G	A	31602967	3	1	27	1	0	0	0	0	1	0	0	0	1319	1145	40	1	5301	1	BAT2	6	31602967	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	364958	31602967	139512100	193	21881										
C6orf47	57827	hgsc.bcm.edu	37	chr6	31627449	31627449	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctagagataggctggtcccaCttgagggaatccattctttt	10	9	1	2	rs2242655	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:31627449C>G	ENST00000375911.1	-	1	1100	c.276G>C	c.(274-276)aaG>aaC	p.K92N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	92			K -> N (in dbSNP:rs2242655).			cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCTGGTCCCACTTGAGGGAAT	0.567													C|||	636	0.126997	0.0756	0.1873	5008	,	,		17694	0.131		0.163	False		,,,				2504	0.1125				p.K92N		Atlas-SNP	.											.	C6orf47	15	.	0			c.G276C						PASS	.	C	ASN/LYS	257,2763		12,233,1265	63	67	65		276	3.5	0.9	6	dbSNP_98	65	724,4694		52,620,2037	yes	missense	C6orf47	NM_021184.3	94	64,853,3302	GG,GC,CC		13.3629,8.5099,11.626	possibly-damaging	92/295	31627449	981,7457	1510	2709	4219	SO:0001583	missense	57827	exon1			GTCCCACTTGAGG	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.276G>C	6.37:g.31627449C>G	ENSP00000365076:p.Lys92Asn	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	89	5	0.0561798	NM_021184	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	CCDS34399.1	339	0.15521978021978022	33	0.06707317073170732	66	0.18232044198895028	103	0.18006993006993008	137	0.18073878627968337	C	13.06	2.125104	0.37533	0.085099	0.133629	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.35236	1.32	5.44	3.53	0.40419	.	0.283163	0.25151	N	0.032743	T	0.29190	0.0726	L	0.54323	1.7	0.38932	P	0.04203599999999996	D	0.57257	0.979	P	0.54270	0.747	T	0.23332	-1.0191	9	0.72032	D	0.01	-7.2804	6.587	0.22626	0.0:0.7876:0.0:0.2124	rs2242655;rs17558921;rs58544317;rs2242655	92	O95873	CF047_HUMAN	N	92	ENSP00000365076:K92N	ENSP00000365076:K92N	K	-	3	2	C6orf47	31735428	0.307000	0.24500	0.857000	0.33713	0.849000	0.48306	0.439000	0.21575	1.541000	0.49316	0.655000	0.94253	AAG	C|0.866;G|0.134	0.134	strong		0.567	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		G	31627449	C	G	31627449	3	3	27	1	0	0	0	0	1	0	0	0	2364	564	20	4	612	4	C6orf47	6	31627449	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	24482	31627449	139487618	194	21882										
C4A	720	hgsc.bcm.edu	37	chr6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgcggcttggttgtcacgggAcagcagcacctggtgagctt	15	10	1	1	rs147162052		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:31963559A>G	ENST00000428956.2	+	25	3302	c.3218A>G	c.(3217-3219)gAc>gGc	p.D1073G	C4A_ENST00000498271.1_Missense_Mutation_p.D1073G	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1073			D -> G (in allotype C4A1, allotype C4A2; dbSNP:rs147162052). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3696167, ECO:0000269|Ref.8}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGACAGCAGCACC	0.612																																					p.G1073G		Atlas-SNP	.											C4B,right_upper_lobe,carcinoma,0,2	C4A	15	2	0			c.G3218G						scavenged	.						101	86	91					6																	31963559		1499	2656	4155	SO:0001583	missense	720	exon25			CACGGGACAGCAG	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"Blood group antigens", "Complement system"	1323	protein-coding gene	gene with protein product		120810	"complement component 4A"				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3218A>G	6.37:g.31963559A>G	ENSP00000396688:p.Asp1073Gly	Somatic	515	6	0.0116505		WXS	Illumina HiSeq	Phase_I	579	9	0.015544	NM_007293	A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	A	1.712	-0.498842	0.04291	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37915	1.17;1.17	3.11	1.88	0.25563	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.	.	.	.	T	0.16642	0.0400	M	0.64170	1.965	0.80722	D	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.026;0.044	T	0.04885	-1.0920	9	0.46703	T	0.11	.	5.4739	0.16686	0.8606:0.0:0.1394:0.0	.	1073;1073	A6H8M8;P0C0L4	.;CO4A_HUMAN	G	1073	ENSP00000396688:D1073G;ENSP00000420212:D1073G	ENSP00000396688:D1073G	D	+	2	0	C4A	32071538	0.168000	0.22989	0.910000	0.35882	0.043000	0.13939	0.471000	0.22100	0.399000	0.25367	-1.226000	0.01582	GAC	A|0.500;G|0.500	0.500	strong		0.612	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		G	31963559	A	G	31963559	3	3	27	1	0	0	0	0	1	0	0	0	2247	275	10	2	3316	2	C4A	6	31963559	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	336110	31963559	139151508	195	21883										
TNXB	7148	hgsc.bcm.edu	37	chr6	32032743	32032743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgcaccgccttgggctgcccGtccccattcttaaactggac	9	17	1	0	rs204883	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:32032743G>A	ENST00000375244.3	-	19	6897	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D	TNXB_ENST00000375247.2_Silent_p.D2232D			P22105	TENX_HUMAN	tenascin XB	2304	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGCTGCCCGTCCCCATTCT	0.597													G|||	1997	0.398762	0.2224	0.4697	5008	,	,		17666	0.4772		0.4463	False		,,,				2504	0.4571				p.D2232D		Atlas-SNP	.											.	TNXB	553	.	0			c.C6696T						PASS	.	G		670,1838		91,488,675	30	34	33		6696	-6.9	0.2	6	dbSNP_79	33	2050,3030		431,1188,921	no	coding-synonymous	TNXB	NM_019105.6		522,1676,1596	AA,AG,GG		40.3543,26.7145,35.8461		2232/4243	32032743	2720,4868	1254	2540	3794	SO:0001819	synonymous_variant	7148	exon19			CTGCCCGTCCCCA	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6696C>T	6.37:g.32032743G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	96	6	0.0625	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				G|0.569;A|0.431	0.431	strong		0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32032743	G	A	32032743	2	1	27	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32032743	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	69184	32032743	139082324	196	21884										
NOTCH4	4855	hgsc.bcm.edu	37	chr6	32188823	32188823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctggcaggtgcccccattcGaacagcccctaggagggcag	14	14	0	0	rs8192585	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:32188823G>A	ENST00000375023.3	-	4	869	c.731C>T	c.(730-732)tCg>tTg	p.S244L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	244	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.		S -> L (in dbSNP:rs8192585).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCCCCATTCGAACAGCCCCT	0.657													G|||	111	0.0221645	0.0151	0.0173	5008	,	,		19615	0.0149		0.0378	False		,,,				2504	0.0266				p.S244L		Atlas-SNP	.											.	NOTCH4	201	.	0			c.C731T						PASS	.	G	LEU/SER	52,2970		0,52,1459	71	60	64		731	-6.9	0	6	dbSNP_117	64	207,5211		4,199,2506	yes	missense	NOTCH4	NM_004557.3	145	4,251,3965	AA,AG,GG		3.8206,1.7207,3.0687	benign	244/2004	32188823	259,8181	1511	2709	4220	SO:0001583	missense	4855	exon4			CCATTCGAACAGC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.731C>T	6.37:g.32188823G>A	ENSP00000364163:p.Ser244Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	51	4	0.0784314	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	63	0.028846153846153848	13	0.026422764227642278	6	0.016574585635359115	12	0.02097902097902098	32	0.04221635883905013	G	0.030	-1.341388	0.01277	0.017207	0.038206	ENSG00000204301	ENST00000375023	D	0.92647	-3.08	4.74	-6.92	0.01644	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.952505	0.08556	N	0.928307	T	0.48696	0.1514	N	0.00648	-1.295	0.54753	D	0.999987	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.04140	-1.0974	10	0.07175	T	0.84	.	10.6497	0.45640	0.7392:0.0:0.1481:0.1127	rs8192585;rs61279185;rs8192585	244;244	Q6P3V5;Q99466	.;NOTC4_HUMAN	L	244	ENSP00000364163:S244L	ENSP00000364163:S244L	S	-	2	0	NOTCH4	32296801	0.000000	0.05858	0.009000	0.14445	0.146000	0.21551	-1.565000	0.02150	-1.259000	0.02468	-0.424000	0.05967	TCG	G|0.969;A|0.031	0.031	strong		0.657	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32188823	G	A	32188823	3	1	27	1	0	0	0	0	1	0	0	0	10551	1059	37	1	5388	1	NOTCH4	6	32188823	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	156080	32188823	138926244	197	21885										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489745	32489745	+	Missense_Mutation	SNP	C	C	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctgcagtaggtgtccaccgCggcgcgcctgtcttccagga					rs41548618	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:32489745C>G	ENST00000374975.3	-	2	369	c.307G>C	c.(307-309)Gcg>Ccg	p.A103P		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GTGTCCACCGCGGCGCGCCTG	0.662													C|||	1062	0.212061	0.2504	0.2291	5008	,	,		4126	0.1815		0.1928	False		,,,				2504	0.1994				p.A103P		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.G307C						PASS	.						33	29	30					6																	32489745		1993	3921	5914	SO:0001583	missense	3127	exon2			CCACCGCGGCGCG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.307G>C	6.37:g.32489745C>G	ENSP00000364114:p.Ala103Pro	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.497225	0.26861	.	.	ENSG00000198502	ENST00000374975	T	0.00289	8.28	4.72	-3.95	0.04118	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	4.343080	0.01276	N	0.009617	T	0.00300	0.0009	M	0.92970	3.365	0.80722	P	0.0	P;P	0.40681	0.719;0.727	P;P	0.59056	0.851;0.758	T	0.19943	-1.0290	9	0.54805	T	0.06	.	5.1766	0.15139	0.4567:0.3298:0.0:0.2135	rs41548618	30;103	Q29973;Q30154	.;DRB5_HUMAN	P	103	ENSP00000364114:A103P	ENSP00000364114:A103P	A	-	1	0	HLA-DRB5	32597723	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.552000	0.00927	-0.891000	0.03940	-3.154000	0.00058	GCG	C|0.807;G|0.193	0.193	strong		0.662	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32489745	C	G	32489745	3	3	27	1	0	0	0	0	1	0	0	0	7209	768	27	4	513	4	HLA-DRB5	6	32489745	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	300922	32489745	138625322	198	21886	440	2								
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32489749	32489749	+	Silent	SNP	G	G	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagtaggtgtccaccgcggcGcgcctgtcttccaggaagtc					rs1064594		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:32489749G>C	ENST00000374975.3	-	2	365	c.303C>G	c.(301-303)cgC>cgG	p.R101R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCACCGCGGCGCGCCTGTCTT	0.662																																					p.R101R		Atlas-SNP	.											.	HLA-DRB5	31	.	0			c.C303G						PASS	.	C		2544,1408		1175,194,607	33	29	30		303	-1.5	0	6	dbSNP_86	30	5096,2670		2414,268,1201	no	coding-synonymous	HLA-DRB5	NM_002125.3		3589,462,1808	CC,CG,GG		34.3806,35.6275,34.8012		101/267	32489749	7640,4078	1976	3883	5859	SO:0001819	synonymous_variant	3127	exon2			CGCGGCGCGCCTG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.303C>G	6.37:g.32489749G>C		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_002125		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																			G|0.339;C|0.661	0.661	strong		0.662	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489749	G	C	32489749	2	2	27	1	0	0	0	0	0	0	0	1	7209	1074	38	4		4	HLA-DRB5	6	32489749	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4	32489749	138625318	199	21887	440	2								
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32609094	32609094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cttcactcatcagctgaccaCgttgcctcttgtggtgtaaa	8	12	4	1	rs550717566	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:32609094C>T	ENST00000343139.5	+	2	192	c.90C>T	c.(88-90)caC>caT	p.H30H	HLA-DQA1_ENST00000395363.1_Silent_p.H30H|HLA-DQA1_ENST00000374949.2_Silent_p.H30H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	30	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCTGACCACGTTGCCTCTT	0.453													.|||	1698	0.339058	0.239	0.3991	5008	,	,		17899	0.4514		0.2684	False		,,,				2504	0.3885				p.H30H		Atlas-SNP	.											.	HLA-DQA1	52	.	0			c.C90T						PASS	.	C		922,3484		131,660,1412	145	125	132		90	-3.5	0	6	dbSNP_126	132	1916,6672		341,1234,2719	no	coding-synonymous	HLA-DQA1	NM_002122.3		472,1894,4131	TT,TC,CC		22.3102,20.926,21.8408		30/256	32609094	2838,10156	2203	4294	6497	SO:0001819	synonymous_variant	3117	exon2			TGACCACGTTGCC		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.90C>T	6.37:g.32609094C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	116	7	0.0603448	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	CCDS4752.1	768	0.3516483516483517	114	0.23170731707317074	137	0.3784530386740331	292	0.5104895104895105	225	0.29683377308707126	.	2.853	-0.237898	0.05944	0.20926	0.223102	ENSG00000196735	ENST00000486548	.	.	.	3.84	-3.45	0.04781	.	.	.	.	.	T	0.22936	0.0554	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22730	-1.0208	3	.	.	.	.	10.9663	0.47414	0.0:0.3747:0.0:0.6253	rs12722043;rs17415840	.	.	.	M	3	.	.	T	+	2	0	HLA-DQA1	32717072	0.000000	0.05858	0.020000	0.16555	0.047000	0.14425	-4.803000	0.00184	-0.758000	0.04690	0.462000	0.41574	ACG	C|0.706;T|0.294	0.294	strong		0.453	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		T	32609094	C	T	32609094	2	4	27	1	0	0	0	0	0	0	0	1	7204	535	19	1		1	HLA-DQA1	6	32609094	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	119345	32609094	138505973	200	21888										
ZBTB22	9278	hgsc.bcm.edu	37	chr6	33283766	33283766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcttggggaaccaggggtgTtggcgctgggcaattaccac	16	9	1	0	rs3130100	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:33283766T>C	ENST00000431845.2	-	2	1079	c.928A>G	c.(928-930)Aca>Gca	p.T310A	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T310A|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	310			T -> A (in dbSNP:rs3130100). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACCAGGGGTGTTGGCGCTGGG	0.567													C|||	2676	0.534345	0.5734	0.549	5008	,	,		18569	0.3899		0.5288	False		,,,				2504	0.6258				p.T310A		Atlas-SNP	.											.	ZBTB22	48	.	0			c.A928G						PASS	.	C	ALA/THR,ALA/THR	2459,1947	544.3+/-376.5	691,1077,435	110	91	98		928,928	3	0.6	6	dbSNP_103	98	4652,3948	536.7+/-383.1	1265,2122,913	yes	missense,missense	ZBTB22	NM_001145338.1,NM_005453.4	58,58	1956,3199,1348	CC,CT,TT		45.907,44.1897,45.3252	benign,benign	310/635,310/635	33283766	7111,5895	2203	4300	6503	SO:0001583	missense	9278	exon2			GGGGTGTTGGCGC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.928A>G	6.37:g.33283766T>C	ENSP00000407545:p.Thr310Ala	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_001145338	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	1141	0.5224358974358975	305	0.6199186991869918	218	0.6022099447513812	222	0.3881118881118881	396	0.5224274406332454	C	0	-2.636134	0.00114	0.558103	0.54093	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.04234	3.67;3.67	3.88	3.0	0.34707	.	.	.	.	.	T	0.00440	0.0014	N	0.02011	-0.69	0.54753	P	1.0999999999983245E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.45469	-0.9259	8	0.05620	T	0.96	.	5.3554	0.16057	0.0:0.6798:0.206:0.1142	rs3130100;rs17856567;rs57230775;rs3130100	310	O15209	ZBT22_HUMAN	A	310	ENSP00000404403:T310A;ENSP00000407545:T310A	ENSP00000404403:T310A	T	-	1	0	ZBTB22	33391744	1.000000	0.71417	0.563000	0.28383	0.381000	0.30169	1.935000	0.40173	0.327000	0.23409	-1.568000	0.00874	ACA	T|0.467;C|0.533	0.533	strong		0.567	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			C	33283766	T	C	33283766	3	2	27	1	0	0	0	0	1	0	0	0	17527	1725	60	2	980	2	ZBTB22	6	33283766	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	674672	33283766	137831301	201	21889										
ANKS1A	23294	hgsc.bcm.edu	37	chr6	34857324	34857324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcggcggcggcggcagcggcGgcggcggcggcggcctcggc	24	15	0	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:34857324G>A	ENST00000360359.3	+	1	283	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	TAF11_ENST00000361288.4_5'Flank|TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_Missense_Mutation_p.G49S	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	49	Gly-rich.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						cggcagcggcggcggcggcgg	0.771																																					p.G49S		Atlas-SNP	.											ANKS1A,NS,carcinoma,0,1	ANKS1A	123	1	0			c.G145A						PASS	.						2	2	2					6																	34857324		382	1194	1576	SO:0001583	missense	23294	exon1			AGCGGCGGCGGCG	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.145G>A	6.37:g.34857324G>A	ENSP00000353518:p.Gly49Ser	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	8	4	0.5	NM_015245	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008376	0.54361	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;D	0.98649	1.19;-5.05	4.58	1.53	0.23141	Ankyrin repeat-containing domain (1);	1.264600	0.06451	N	0.727796	D	0.90783	0.7106	N	0.19112	0.55	0.25322	N	0.989108	P;B	0.49090	0.919;0.003	B;B	0.38655	0.278;0.002	D	0.88474	0.3064	10	0.17832	T	0.49	-4.009	8.7007	0.34323	0.0795:0.0:0.6816:0.2389	.	49;49	B4DQW8;Q92625	.;ANS1A_HUMAN	S	49	ENSP00000353518:G49S;ENSP00000438752:G49S	ENSP00000353518:G49S	G	+	1	0	ANKS1A	34965302	1.000000	0.71417	0.794000	0.32065	0.327000	0.28475	2.586000	0.46119	0.389000	0.25086	0.471000	0.43371	GGC	.	.	none		0.771	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	34857324	G	A	34857324	3	1	27	1	0	0	0	0	1	0	0	0	688	1116	39	1	147	1	ANKS1A	6	34857324	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1573558	34857324	136257743	202	21890										
DNAH8	1769	hgsc.bcm.edu	37	chr6	38781866	38781866	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagtcagaagatattatttcCtttataaaaagtgaagtaca	6	5	1	3	rs1678690	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:38781866C>G	ENST00000359357.3	+	23	2897	c.2643C>G	c.(2641-2643)tcC>tcG	p.S881S	DNAH8_ENST00000449981.2_Silent_p.S1098S|DNAH8_ENST00000441566.1_Silent_p.S881S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	881					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)	p.S881S(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATTATTTCCTTTATAAAAA	0.313													C|||	2510	0.501198	0.3124	0.5908	5008	,	,		18086	0.7946		0.3748	False		,,,				2504	0.5204				p.S1098S		Atlas-SNP	.											DNAH8_ENST00000359357,NS,carcinoma,0,1	DNAH8	1239	1	1	Substitution - coding silent(1)	prostate(1)	c.C3294G						scavenged	.	C		1493,2913	473.1+/-356.6	252,989,962	115	127	123		3294	2.1	1	6	dbSNP_89	123	3726,4874	529.8+/-381.7	823,2080,1397	no	coding-synonymous	DNAH8	NM_001206927.1		1075,3069,2359	GG,GC,CC		43.3256,33.8856,40.1276		1098/4708	38781866	5219,7787	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon25			TATTTCCTTTATA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2643C>G	6.37:g.38781866C>G		Somatic	276	1	0.00362319		WXS	Illumina HiSeq	Phase_I	257	6	0.0233463	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				C|0.558;G|0.442	0.442	strong		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38781866	C	G	38781866	2	3	27	1	0	0	0	0	0	0	0	1	4607	668	24	4		4	DNAH8	6	38781866	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3924542	38781866	132333201	203	21891										
UNC5CL	222643	hgsc.bcm.edu	37	chr6	40998141	40998141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcctaccggatcttcatgccGcaaagccccaggtgggaggc	12	14	2	0	rs736795	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:40998141G>A	ENST00000373164.1	-	7	1380	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Silent_p.C440C			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	440	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTCATGCCGCAAAGCCCCA	0.597													G|||	1385	0.276558	0.2368	0.268	5008	,	,		19416	0.2778		0.2038	False		,,,				2504	0.41				p.C440C		Atlas-SNP	.											.	UNC5CL	52	.	0			c.C1320T						PASS	.	G		1033,3373	380.9+/-323.9	131,771,1301	82	74	76		1320	-5.8	0.9	6	dbSNP_86	76	2098,6502	363.7+/-333.3	254,1590,2456	no	coding-synonymous	UNC5CL	NM_173561.2		385,2361,3757	AA,AG,GG		24.3953,23.4453,24.0735		440/519	40998141	3131,9875	2203	4300	6503	SO:0001819	synonymous_variant	222643	exon8			CATGCCGCAAAGC	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1320C>T	6.37:g.40998141G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	99	5	0.050505	NM_173561	Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																			G|0.767;A|0.233	0.233	strong		0.597	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		A	40998141	G	A	40998141	2	1	27	1	0	0	0	0	0	0	0	1	16991	1079	38	1		1	UNC5CL	6	40998141	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2216275	40998141	130116926	204	21892										
ZNF318	24149	hgsc.bcm.edu	37	chr6	43305520	43305520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaggttttgggagaatctaaCggaaacccagaaaaagatgg	12	5	1	3	rs35650765	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:43305520C>T	ENST00000361428.2	-	10	6293	c.6216G>A	c.(6214-6216)ccG>ccA	p.P2072P	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2072					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGAATCTAACGGAAACCCAG	0.443													C|||	94	0.01877	0.003	0.0202	5008	,	,		20560	0.0129		0.0487	False		,,,				2504	0.0143				p.P2072P		Atlas-SNP	.											ZNF318,colon,carcinoma,0,1	ZNF318	175	1	0			c.G6216A						scavenged	.	C		40,4366	44.6+/-78.6	0,40,2163	80	76	78		6216	-11.7	0.2	6	dbSNP_126	78	413,8187	130.0+/-188.0	10,393,3897	no	coding-synonymous	ZNF318	NM_014345.2		10,433,6060	TT,TC,CC		4.8023,0.9079,3.483		2072/2280	43305520	453,12553	2203	4300	6503	SO:0001819	synonymous_variant	24149	exon10			ATCTAACGGAAAC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6216G>A	6.37:g.43305520C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	194	5	0.0257732	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	CCDS4895.2																																																																																			C|0.970;T|0.030	0.030	strong		0.443	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43305520	C	T	43305520	2	4	27	1	0	0	0	0	0	0	0	1	17833	523	19	1		1	ZNF318	6	43305520	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2307379	43305520	127809547	205	21893										
ENPP4	22875	hgsc.bcm.edu	37	chr6	46108916	46108916	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagcccattattttggttgcCgatgaaggctggacaattgt	11	8	0	1	rs9472696	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:46108916C>G	ENST00000321037.4	+	3	1184	c.954C>G	c.(952-954)gcC>gcG	p.A318A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	318					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTTTGGTTGCCGATGAAGGCT	0.333													C|||	468	0.0934505	0.1339	0.0576	5008	,	,		17451	0.1716		0.0656	False		,,,				2504	0.0123				p.A318A		Atlas-SNP	.											.	ENPP4	44	.	0			c.C954G						PASS	.	C		607,3799	264.7+/-266.2	50,507,1646	92	83	86		954	-0.6	1	6	dbSNP_119	86	586,8008	155.4+/-209.4	15,556,3726	no	coding-synonymous	ENPP4	NM_014936.4		65,1063,5372	GG,GC,CC		6.8187,13.7767,9.1769		318/454	46108916	1193,11807	2203	4297	6500	SO:0001819	synonymous_variant	22875	exon3			GGTTGCCGATGAA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.954C>G	6.37:g.46108916C>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	160	7	0.04375	NM_014936	A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	CCDS34468.1																																																																																			C|0.901;G|0.099	0.099	strong		0.333	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			G	46108916	C	G	46108916	2	3	27	1	0	0	0	0	0	0	0	1	5132	639	23	4		4	ENPP4	6	46108916	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2803396	46108916	125006151	206	21894										
LMBRD1	55788	hgsc.bcm.edu	37	chr6	70409081	70409081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctacctcttctgattttatAtaactggaaagaaaagagtg	7	6	3	3	rs185334169	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:70409081A>G	ENST00000370577.3	-	13	1421	c.1192T>C	c.(1192-1194)Tat>Cat	p.Y398H	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y325H	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	398					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTGATTTTATATAACTGGAAA	0.333													A|||	9	0.00179712	0.0	0.0	5008	,	,		14747	0.0079		0.0	False		,,,				2504	0.001				p.Y398H		Atlas-SNP	.											.	LMBRD1	61	.	0			c.T1192C						PASS	.						95	102	100					6																	70409081		2203	4300	6503	SO:0001583	missense	55788	exon13			TTTTATATAACTG	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1192T>C	6.37:g.70409081A>G	ENSP00000359609:p.Tyr398His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	107	7	0.0654206	NM_018368	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	A	21.8	4.197829	0.79015	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.18502	2.21;2.21	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.04767	-1.0928	10	0.11182	T	0.66	-11.6488	15.4018	0.74845	1.0:0.0:0.0:0.0	.	398	Q9NUN5	LMBD1_HUMAN	H	398;325	ENSP00000359609:Y398H;ENSP00000359602:Y325H	ENSP00000359602:Y325H	Y	-	1	0	LMBRD1	70465802	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.244000	0.95423	2.095000	0.63458	0.482000	0.46254	TAT	A|0.997;G|0.003	0.003	strong		0.333	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		G	70409081	A	G	70409081	3	3	27	1	0	0	0	0	1	0	0	0	8842	449	16	2	446	2	LMBRD1	6	70409081	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	24300165	70409081	100705986	207	21895										
FAM135A	57579	hgsc.bcm.edu	37	chr6	71238105	71238105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttagtgtagaagaagaggAtggttctgaagatggagtac	14	2	1	5	rs2747701	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:71238105A>G	ENST00000418814.2	+	16	4339	c.3725A>G	c.(3724-3726)gAt>gGt	p.D1242G	FAM135A_ENST00000457062.2_Missense_Mutation_p.D1029G|FAM135A_ENST00000361499.3_Missense_Mutation_p.D1046G|FAM135A_ENST00000505769.1_Missense_Mutation_p.D822G|FAM135A_ENST00000505868.1_Missense_Mutation_p.D1242G|FAM135A_ENST00000370479.3_Missense_Mutation_p.D1029G	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1242			D -> G (in dbSNP:rs2747701). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16192744}.							breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAAGAAGAGGATGGTTCTGAA	0.403													A|||	1699	0.339257	0.0189	0.2507	5008	,	,		16392	0.5427		0.4761	False		,,,				2504	0.4847				p.D1242G		Atlas-SNP	.											.	FAM135A	181	.	0			c.A3725G						PASS	.	A	GLY/ASP,GLY/ASP,GLY/ASP	381,4025	192.3+/-217.7	13,355,1835	215	183	194		3137,3725,3086	3.8	0.7	6	dbSNP_100	194	4138,4462	564.9+/-388.4	1003,2132,1165	yes	missense,missense,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	94,94,94	1016,2487,3000	GG,GA,AA		48.1163,8.6473,34.7455	benign,benign,benign	1046/1320,1242/1516,1029/1303	71238105	4519,8487	2203	4300	6503	SO:0001583	missense	57579	exon14			AAGAGGATGGTTC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3725A>G	6.37:g.71238105A>G	ENSP00000410768:p.Asp1242Gly	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	198	9	0.0454545	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	779	0.3566849816849817	12	0.024390243902439025	98	0.27071823204419887	305	0.5332167832167832	364	0.48021108179419525	A	12.22	1.872457	0.33069	0.086473	0.481163	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.24538	2.16;2.16;1.85;2.16;2.16;2.15	4.92	3.77	0.43336	.	0.230845	0.51477	N	0.000093	T	0.14874	0.0359	M	0.67953	2.075	0.09310	P	0.99999351703	B;B;B;B;B	0.31040	0.305;0.11;0.067;0.076;0.11	B;B;B;B;B	0.33042	0.109;0.157;0.075;0.047;0.157	T	0.04053	-1.0981	9	0.59425	D	0.04	.	10.304	0.43670	0.9221:0.0:0.0779:0.0	rs2747701;rs3736753;rs60825985;rs2747701	822;1242;1242;1046;1029	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	G	1242;1029;822;1029;1046;1242	ENSP00000410768:D1242G;ENSP00000359510:D1029G;ENSP00000423785:D822G;ENSP00000409201:D1029G;ENSP00000354913:D1046G;ENSP00000423307:D1242G	ENSP00000354913:D1046G	D	+	2	0	FAM135A	71294826	1.000000	0.71417	0.723000	0.30687	0.305000	0.27757	6.153000	0.71819	0.843000	0.35070	0.482000	0.46254	GAT	A|0.647;G|0.353	0.353	strong		0.403	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71238105	A	G	71238105	3	3	27	1	0	0	0	0	1	0	0	0	5448	333	12	2	3857	2	FAM135A	6	71238105	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	829024	71238105	99876962	208	21896										
PNRC1	10957	hgsc.bcm.edu	37	chr6	89793894	89793894	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atggcagtacacttaaaaacGctcctcaaagttcaaactta	5	10	2	0	rs1130809	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:89793894G>C	ENST00000336032.3	+	2	1080	c.963G>C	c.(961-963)acG>acC	p.T321T	PNRC1_ENST00000369472.1_Silent_p.T136T|PNRC1_ENST00000354922.3_Silent_p.T136T	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTAAAAACGCTCCTCAAAG	0.398										Multiple Myeloma(7;0.094)			G|||	1747	0.348842	0.2443	0.4006	5008	,	,		16481	0.6696		0.167	False		,,,				2504	0.3098				p.T321T		Atlas-SNP	.											.	PNRC1	17	.	0			c.G963C						PASS	.	G		989,3417	357.6+/-314.0	117,755,1331	58	57	57		963	3.4	1	6	dbSNP_86	57	1363,7235	255.9+/-280.6	110,1143,3046	no	coding-synonymous	PNRC1	NM_006813.2		227,1898,4377	CC,CG,GG		15.8525,22.4467,18.0867		321/328	89793894	2352,10652	2203	4299	6502	SO:0001819	synonymous_variant	10957	exon2			AAAAACGCTCCTC	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.963G>C	6.37:g.89793894G>C		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	174	7	0.0402299	NM_006813	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	37	CCDS5018.1																																																																																			G|0.746;C|0.254	0.254	strong		0.398	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		C	89793894	G	C	89793894	2	2	27	1	0	0	0	0	0	0	0	1	12174	1074	38	4		4	PNRC1	6	89793894	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	18555789	89793894	81321173	209	21897										
PM20D2	135293	hgsc.bcm.edu	37	chr6	89868128	89868128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctatatggaaaatggaagaAagctaggaatagagttcatt	10	4	1	2	rs10944433	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:89868128A>G	ENST00000275072.4	+	5	1092	c.997A>G	c.(997-999)Aag>Gag	p.K333E		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	333			K -> E (in dbSNP:rs10944433).			extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AAATGGAAGAAAGCTAGGAAT	0.328													A|||	109	0.0217652	0.0106	0.0086	5008	,	,		16585	0.0437		0.0	False		,,,				2504	0.046				p.K333E		Atlas-SNP	.											PM20D2,NS,carcinoma,-1,1	PM20D2	30	1	0			c.A997G						scavenged	.	A	GLU/LYS	43,4363	46.0+/-80.4	0,43,2160	102	112	109		997	5.3	0.9	6	dbSNP_120	109	5,8593	4.3+/-15.6	0,5,4294	yes	missense	PM20D2	NM_001010853.1	56	0,48,6454	GG,GA,AA		0.0582,0.9759,0.3691	benign	333/437	89868128	48,12956	2203	4299	6502	SO:0001583	missense	135293	exon5			GGAAGAAAGCTAG	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.997A>G	6.37:g.89868128A>G	ENSP00000275072:p.Lys333Glu	Somatic	313	2	0.00638978		WXS	Illumina HiSeq	Phase_I	219	8	0.0365297	NM_001010853	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	37	0.01694139194139194	5	0.01016260162601626	4	0.011049723756906077	28	0.04895104895104895	0	0.0	A	6.550	0.469673	0.12461	0.009759	5.82E-4	ENSG00000146281	ENST00000275072	T	0.38887	1.11	5.32	5.32	0.75619	.	0.159328	0.56097	D	0.000024	T	0.10895	0.0266	N	0.12920	0.275	0.36178	D	0.84924	B	0.23806	0.091	B	0.25987	0.065	T	0.05178	-1.0901	10	0.02654	T	1	-14.5741	15.309	0.74016	1.0:0.0:0.0:0.0	rs10944433;rs52835700;rs10944433	333	Q8IYS1	P20D2_HUMAN	E	333	ENSP00000275072:K333E	ENSP00000275072:K333E	K	+	1	0	PM20D2	89924847	0.992000	0.36948	0.945000	0.38365	0.394000	0.30568	2.606000	0.46291	2.016000	0.59253	0.477000	0.44152	AAG	A|0.990;G|0.010	0.010	strong		0.328	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		G	89868128	A	G	89868128	3	3	27	1	0	0	0	0	1	0	0	0	12129	15	1	2	1015	2	PM20D2	6	89868128	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	74234	89868128	81246939	210	21898										
KIAA0776	23376	hgsc.bcm.edu	37	chr6	96999725	96999725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttttcagagcatagaagaCtttatttcttgtctggattc	7	8	3	3	rs1127175	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:96999725C>T	ENST00000369278.4	+	17	1977	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	637					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GCATAGAAGACTTTATTTCTT	0.299													C|||	1636	0.326677	0.326	0.2911	5008	,	,		16341	0.3075		0.3698	False		,,,				2504	0.3282				p.D637D		Atlas-SNP	.											KIAA0776,NS,carcinoma,0,2	.	.	2	0			c.C1911T						scavenged	.	C		1470,2934	455.5+/-351.0	239,992,971	86	95	92		1911	-0.4	1	6	dbSNP_86	92	2996,5600	455.3+/-363.7	536,1924,1838	no	coding-synonymous	UFL1	NM_015323.4		775,2916,2809	TT,TC,CC		34.8534,33.3787,34.3538		637/795	96999725	4466,8534	2202	4298	6500	SO:0001819	synonymous_variant	23376	exon17			AGAAGACTTTATT	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1911C>T	6.37:g.96999725C>T		Somatic	523	3	0.00573614		WXS	Illumina HiSeq	Phase_I	352	10	0.0284091	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																			C|0.662;T|0.338	0.338	strong		0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		T	96999725	C	T	96999725	2	4	27	1	0	0	0	0	0	0	0	1	8193	564	20	2		2	KIAA0776	6	96999725	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	7131597	96999725	74115342	211	21899										
PRDM1	639	hgsc.bcm.edu	37	chr6	106552891	106552892	+	Frame_Shift_Ins	INS	-	-	GT													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctcgatgactttagaagacINSgtgggagccccgaaatgccc					rs17066588	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:106552891_106552892insGT	ENST00000369096.4	+	5	1090_1091	c.856_857insGT	c.(856-858)cgtfs	p.R286fs	PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.R152fs|PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.R250fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	286					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTTTAGAAGACGTGGGAGCCCC	0.525			"D, N, Mis, F, S"		DLBCL																																p.R286fs		Pindel,Atlas-Indel	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	PRDM1,colon,carcinoma,0,1	PRDM1	195	1	0			c.856_857insGT						PASS	.																																			SO:0001589	frameshift_variant	639	exon5			.		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.857_858dupGT	6.37:g.106552892_106552893dupGT	ENSP00000358092:p.Arg286fs	Somatic	152	.	.		WXS	Illumina HiSeq	Phase_I	78	19	0.244	NM_001198	B2REA6|E1P5E0|Q86WM7	Frame_Shift_Ins	INS	ENST00000369096.4	37	CCDS5054.2																																																																																			.	.	none		0.525	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			GT	106552892	-	GT	106552891	7	5	27	1	0	1	1	0	0	0	0	0	12450	536	19	0	887	0	PRDM1	6	106552891	Frame_Shift_Ins	INS	-	TCGA-GR-A4D9-01B-11D-A31X-10	9553166	106552891	64562176	212	21900										
PRDM1	639	hgsc.bcm.edu	37	chr6	106555025	106555025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gggaactgcgctgcggccccGgcgcctgggctgcccttgga	17	15	0	0	rs1010273	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:106555025G>A	ENST00000369096.4	+	7	2376	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	PRDM1_ENST00000369089.3_Silent_p.P580P|PRDM1_ENST00000369091.2_Silent_p.P678P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	714					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTGCGGCCCCGGCGCCTGGGC	0.577			"D, N, Mis, F, S"		DLBCL								G|||	457	0.091254	0.0197	0.0951	5008	,	,		19218	0.1865		0.1153	False		,,,				2504	0.0624				p.P714P		Atlas-SNP	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	.	PRDM1	195	.	0			c.G2142A						PASS	.	G	,	126,4280	91.1+/-129.8	3,120,2080	156	176	169		2142,1740	-11.9	0	6	dbSNP_86	169	857,7743	196.3+/-241.3	45,767,3488	no	coding-synonymous,coding-synonymous	PRDM1	NM_001198.3,NM_182907.1	,	48,887,5568	AA,AG,GG		9.9651,2.8597,7.5581	,	714/826,580/692	106555025	983,12023	2203	4300	6503	SO:0001819	synonymous_variant	639	exon7			GGCCCCGGCGCCT		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2142G>A	6.37:g.106555025G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	62	4	0.0645161	NM_001198	B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	CCDS5054.2																																																																																			G|0.910;A|0.090	0.090	strong		0.577	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106555025	G	A	106555025	2	1	27	1	0	0	0	0	0	0	0	1	12450	1103	39	1		1	PRDM1	6	106555025	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2134	106555025	64560042	213	21901										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110763875	110763875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagccaccagcagggttccaActgcaaaaaaggaatgcaaa	9	10	0	0	rs723685	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:110763875A>G	ENST00000368919.3	-	4	821	c.755T>C	c.(754-756)gTt>gCt	p.V252A	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V218A|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.V252A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	252			V -> A (in dbSNP:rs723685).		acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CAGGGTTCCAACTGCAAAAAA	0.498													A|||	441	0.0880591	0.0968	0.1081	5008	,	,		18484	0.0794		0.0944	False		,,,				2504	0.0644				p.V252A		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T755C						PASS	.	A	ALA/VAL	514,3892	236.5+/-248.6	22,470,1711	90	88	89		755	3.7	0.2	6	dbSNP_86	89	758,7842	181.0+/-229.8	33,692,3575	yes	missense	SLC22A16	NM_033125.2	64	55,1162,5286	GG,GA,AA		8.814,11.6659,9.7801	benign	252/578	110763875	1272,11734	2203	4300	6503	SO:0001583	missense	85413	exon4			GTTCCAACTGCAA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.755T>C	6.37:g.110763875A>G	ENSP00000357915:p.Val252Ala	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	63	6	0.0952381	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	180	0.08241758241758242	43	0.08739837398373984	32	0.08839779005524862	39	0.06818181818181818	66	0.0870712401055409	A	9.846	1.192480	0.21954	0.116659	0.08814	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.84	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.841724	0.10529	N	0.664036	T	0.33789	0.0875	L	0.52759	1.655	0.09310	P	1.0	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.003	T	0.15665	-1.0429	9	0.51188	T	0.08	.	10.5063	0.44836	0.9225:0.0:0.0775:0.0	rs723685;rs52815010;rs59277963;rs723685	252;218	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	A	252;169;218;252;82;209	ENSP00000357915:V252A;ENSP00000395642:V169A;ENSP00000328583:V218A;ENSP00000408799:V252A;ENSP00000409306:V82A;ENSP00000416310:V209A	ENSP00000328583:V218A	V	-	2	0	SLC22A16	110870568	0.841000	0.29509	0.161000	0.22692	0.030000	0.12068	4.650000	0.61440	0.695000	0.31675	-0.264000	0.10439	GTT	A|0.905;G|0.095	0.095	strong		0.498	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110763875	A	G	110763875	3	3	27	1	0	0	0	0	1	0	0	0	14447	43	2	2	998	2	SLC22A16	6	110763875	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	4208850	110763875	60351192	214	21902										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110777962	110777962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcgatgtgttctccctcttAttcctgctacaccttgagag	7	13	2	1	rs6907567	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:110777962A>G	ENST00000368919.3	-	2	378	c.312T>C	c.(310-312)aaT>aaC	p.N104N	SLC22A16_ENST00000330550.4_Silent_p.N70N|SLC22A16_ENST00000456137.2_Silent_p.N104N|SLC22A16_ENST00000439654.1_Silent_p.N104N|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	104					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TCTCCCTCTTATTCCTGCTAC	0.473													G|||	1573	0.314097	0.3888	0.2406	5008	,	,		19928	0.4107		0.2207	False		,,,				2504	0.2618				p.N104N		Atlas-SNP	.											.	SLC22A16	81	.	0			c.T312C						PASS	.	G		1600,2806	663.6+/-401.2	281,1038,884	241	238	239		312	0.3	0	6	dbSNP_116	239	1917,6683	726.4+/-406.6	180,1557,2563	no	coding-synonymous	SLC22A16	NM_033125.2		461,2595,3447	GG,GA,AA		22.2907,36.3141,27.0414		104/578	110777962	3517,9489	2203	4300	6503	SO:0001819	synonymous_variant	85413	exon2			CCTCTTATTCCTG		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.312T>C	6.37:g.110777962A>G		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	70	4	0.0571429	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	CCDS5084.1																																																																																			A|0.716;G|0.284	0.284	strong		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		G	110777962	A	G	110777962	2	3	27	1	0	0	0	0	0	0	0	1	14447	446	16	2		2	SLC22A16	6	110777962	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	14087	110777962	60337105	215	21903										
SLC22A16	85413	hgsc.bcm.edu	37	chr6	110778128	110778128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgggggcctgcagacatgaTgaggggtgactcccatgaac	15	10	0	5	rs714368	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:110778128T>C	ENST00000368919.3	-	2	212	c.146A>G	c.(145-147)cAt>cGt	p.H49R	SLC22A16_ENST00000330550.4_Missense_Mutation_p.H47R|SLC22A16_ENST00000456137.2_Missense_Mutation_p.H49R|SLC22A16_ENST00000439654.1_Missense_Mutation_p.H49R|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	49			H -> R (in dbSNP:rs714368).		acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GCAGACATGATGAGGGGTGAC	0.493													t|||	1572	0.313898	0.3888	0.2406	5008	,	,		17832	0.4097		0.2207	False		,,,				2504	0.2618				p.H49R		Atlas-SNP	.											.	SLC22A16	81	.	0			c.A146G						PASS	.	T	ARG/HIS	1600,2806	496.9+/-363.7	281,1038,884	65	68	67		146	-3.1	0	6	dbSNP_86	67	1917,6683	340.3+/-323.5	180,1557,2563	yes	missense	SLC22A16	NM_033125.2	29	461,2595,3447	CC,CT,TT		22.2907,36.3141,27.0414	benign	49/578	110778128	3517,9489	2203	4300	6503	SO:0001583	missense	85413	exon2			ACATGATGAGGGG		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.146A>G	6.37:g.110778128T>C	ENSP00000357915:p.His49Arg	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	667	0.30540293040293043	172	0.34959349593495936	93	0.2569060773480663	245	0.42832167832167833	157	0.20712401055408972	t	8.623	0.891879	0.17613	0.363141	0.222907	ENSG00000004809	ENST00000368919;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	D;T;D;T;D;T	0.82167	-1.58;-0.08;-1.58;-0.08;-1.58;-0.08	4.63	-3.12	0.05282	.	1.299300	0.05397	N	0.540040	T	0.41373	0.1156	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.03453	-1.1035	9	0.27082	T	0.32	.	10.625	0.45502	0.0:0.284:0.0:0.716	rs714368;rs52825948;rs60832844;rs714368	49;47	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	R	49;47;49;6;49;6	ENSP00000357915:H49R;ENSP00000328583:H47R;ENSP00000408799:H49R;ENSP00000416310:H6R;ENSP00000402111:H49R;ENSP00000401007:H6R	ENSP00000328583:H47R	H	-	2	0	SLC22A16	110884821	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.856000	0.27818	-0.837000	0.04223	-1.875000	0.00549	CAT	T|0.701;C|0.299	0.299	strong		0.493	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		C	110778128	T	C	110778128	3	2	27	1	0	0	0	0	1	0	0	0	14447	1464	51	2	1615	2	SLC22A16	6	110778128	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	166	110778128	60336939	216	21904										
FAM162B	221303	hgsc.bcm.edu	37	chr6	117086652	117086652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cggaagagccggtgcgggccGtcgcgtggcctcgagaggcg	20	12	0	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:117086652G>A	ENST00000368557.4	-	1	234	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	30						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						GGTGCGGGCCGTCGCGTGGCC	0.746																																					p.R30W		Atlas-SNP	.											.	FAM162B	19	.	0			c.C88T						PASS	.						2	3	3					6																	117086652		1446	3410	4856	SO:0001583	missense	221303	exon1			CGGGCCGTCGCGT	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.88C>T	6.37:g.117086652G>A	ENSP00000357545:p.Arg30Trp	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	13	7	0.538462	NM_001085480	Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	CCDS43497.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129940	0.21041	.	.	ENSG00000183807	ENST00000368557	T	0.31769	1.48	2.93	-3.02	0.05446	.	0.936775	0.08728	N	0.902552	T	0.05135	0.0137	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39354	-0.9618	10	0.46703	T	0.11	0.0041	4.5061	0.11889	0.4972:0.2298:0.273:0.0	.	30	Q5T6X4	F162B_HUMAN	W	30	ENSP00000357545:R30W	ENSP00000357545:R30W	R	-	1	2	FAM162B	117193345	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.029000	0.12329	-0.773000	0.04596	-0.643000	0.03959	CGG	.	.	none		0.746	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		A	117086652	G	A	117086652	3	1	27	1	0	0	0	0	1	0	0	0	5475	1144	40	1	416	1	FAM162B	6	117086652	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6308524	117086652	54028415	217	21905										
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117113653	117113653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgacaataatctccacagcTggtacatatttgccaaatgt	6	9	1	1	rs615199	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:117113653T>C	ENST00000310357.3	-	6	2454	c.2433A>G	c.(2431-2433)ccA>ccG	p.P811P	GPRC6A_ENST00000530250.1_Silent_p.P636P|GPRC6A_ENST00000368549.3_Silent_p.P740P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	811					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P811P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTCCACAGCTGGTACATATT	0.343													T|||	1534	0.30631	0.1452	0.3674	5008	,	,		24347	0.5228		0.3082	False		,,,				2504	0.2556				p.P811P		Atlas-SNP	.											GPRC6A,NS,carcinoma,0,1	GPRC6A	152	1	1	Substitution - coding silent(1)	stomach(1)	c.A2433G						PASS	.	T		744,3662	304.1+/-288.3	65,614,1524	79	81	81		2433	-5.8	0.3	6	dbSNP_83	81	2838,5762	446.6+/-361.3	459,1920,1921	no	coding-synonymous	GPRC6A	NM_148963.2		524,2534,3445	CC,CT,TT		33.0,16.8861,27.5411		811/927	117113653	3582,9424	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			CACAGCTGGTACA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2433A>G	6.37:g.117113653T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	79	5	0.0632911	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			C|0.301;N|0.000	0.301	strong		0.343	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			C	117113653	T	C	117113653	2	2	27	1	0	0	0	0	0	0	0	1	6728	1567	55	3		3	GPRC6A	6	117113653	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	27001	117113653	54001414	218	21906			1	95		3	3	571	N	T_G	5.270455e-05
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117114025	117114025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatttgggatcaaagctgaaGgctagcaaaattttcagaga	10	5	2	2	rs6901250	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:117114025G>A	ENST00000310357.3	-	6	2082	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	GPRC6A_ENST00000530250.1_Silent_p.A512A|GPRC6A_ENST00000368549.3_Silent_p.A616A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	687					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A687A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAAGCTGAAGGCTAGCAAAA	0.418													G|||	1607	0.320887	0.1989	0.3703	5008	,	,		21337	0.5228		0.3082	False		,,,				2504	0.2556				p.A687A		Atlas-SNP	.											GPRC6A,NS,carcinoma,0,2	GPRC6A	152	2	1	Substitution - coding silent(1)	stomach(1)	c.C2061T						PASS	.	G		917,3489	351.8+/-311.4	94,729,1380	78	75	76	http://www.ncbi.nlm.nih.gov/pubmed?term	2061	0.6	1	6	dbSNP_116	76	2836,5764	446.8+/-361.4	457,1922,1921	yes	coding-synonymous	GPRC6A	NM_148963.2		551,2651,3301	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	32.9767,20.8125,28.8559		687/927	117114025	3753,9253	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			GCTGAAGGCTAGC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2061C>T	6.37:g.117114025G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	89	8	0.0898876	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			G|0.686;A|0.314	0.314	strong		0.418	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117114025	G	A	117114025	2	1	27	1	0	0	0	0	0	0	0	1	6728	987	35	2		2	GPRC6A	6	117114025	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	372	117114025	54001042	219	21907			1	95		3	3	571	N	T_G	5.270455e-05
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117114223	117114223	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccggatgatttcacaacaggTgtgttcaggtttcttgtaaa	10	7	3	1	rs6924002	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:117114223T>A	ENST00000310357.3	-	6	1884	c.1863A>T	c.(1861-1863)acA>acT	p.T621T	GPRC6A_ENST00000530250.1_Silent_p.T446T|GPRC6A_ENST00000368549.3_Silent_p.T550T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	621					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCACAACAGGTGTGTTCAGGT	0.433													T|||	1607	0.320887	0.1989	0.3703	5008	,	,		19816	0.5228		0.3082	False		,,,				2504	0.2556				p.T621T		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A1863T						PASS	.	T		917,3489	352.1+/-311.5	94,729,1380	100	97	98		1863	-2.1	1	6	dbSNP_116	98	2837,5763	447.3+/-361.5	458,1921,1921	no	coding-synonymous	GPRC6A	NM_148963.2		552,2650,3301	AA,AT,TT		32.9884,20.8125,28.8636		621/927	117114223	3754,9252	2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			AACAGGTGTGTTC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1863A>T	6.37:g.117114223T>A		Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	126	11	0.0873016	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																			T|0.683;A|0.317	0.317	strong		0.433	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117114223	T	A	117114223	2	1	27	1	0	0	0	0	0	0	0	1	6728	1683	59	5		5	GPRC6A	6	117114223	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	198	117114223	54000844	220	21908			1	95		3	3	571	N	T_G	5.270455e-05
C6orf170	221322	hgsc.bcm.edu	37	chr6	121602795	121602795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttgatcactgagtatccaCagaacttcagtcaccatact	5	11	3	3	rs79788801	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:121602795C>T	ENST00000398212.2	-	14	1552	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	TBC1D32_ENST00000275159.6_Silent_p.L501L	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	501					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.L501L(1)									TGAGTATCCACAGAACTTCAG	0.294													T|||	273	0.0545128	0.034	0.1196	5008	,	,		14544	0.124		0.0109	False		,,,				2504	0.0092				p.L501L		Atlas-SNP	.											C6orf170,NS,carcinoma,0,1	C6orf170	146	1	1	Substitution - coding silent(1)	stomach(1)	c.G1503A						scavenged	.	T		107,3537		3,101,1718	95	90	92		1503	-9.2	0	6	dbSNP_131	92	95,8049		0,95,3977	no	coding-synonymous	C6orf170	NM_152730.4		3,196,5695	TT,TC,CC		1.1665,2.9363,1.7136		501/1258	121602795	202,11586	1822	4072	5894	SO:0001819	synonymous_variant	221322	exon14			TATCCACAGAACT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1503G>A	6.37:g.121602795C>T		Somatic	303	1	0.00330033		WXS	Illumina HiSeq	Phase_I	217	8	0.0368664	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																			C|0.954;T|0.046	0.046	strong		0.294	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121602795	C	T	121602795	2	4	27	1	0	0	0	0	0	0	0	1	2344	465	17	2		2	C6orf170	6	121602795	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4488572	121602795	49512272	221	21909										
SMPDL3A	10924	hgsc.bcm.edu	37	chr6	123126138	123126138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagaatactataatgagaaaTtgatagatatttttcaaaaa	6	2	1	4	rs61741159	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:123126138T>C	ENST00000368440.4	+	6	1000	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L	SMPDL3A_ENST00000539041.1_Silent_p.L144L	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	275					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TAATGAGAAATTGATAGATAT	0.353													T|||	250	0.0499201	0.0303	0.1787	5008	,	,		15792	0.0456		0.003	False		,,,				2504	0.0378				p.L275L		Atlas-SNP	.											.	SMPDL3A	31	.	0			c.T823C						PASS	.	T		79,4327	68.7+/-106.4	0,79,2124	104	105	104		823	-2.2	0.2	6	dbSNP_129	104	31,8569	21.0+/-64.5	0,31,4269	yes	coding-synonymous	SMPDL3A	NM_006714.3		0,110,6393	CC,CT,TT		0.3605,1.793,0.8458		275/454	123126138	110,12896	2203	4300	6503	SO:0001819	synonymous_variant	10924	exon6			GAGAAATTGATAG	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.823T>C	6.37:g.123126138T>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	64	5	0.078125	NM_006714	B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	37	CCDS5128.1																																																																																			T|0.981;C|0.019	0.019	strong		0.353	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		C	123126138	T	C	123126138	2	2	27	1	0	0	0	0	0	0	0	1	14808	1490	52	2		2	SMPDL3A	6	123126138	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1523343	123126138	47988929	222	21910										
LAMA2	3908	hgsc.bcm.edu	37	chr6	129511373	129511373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatgttgaaggaggagactgTagtcgttgcaaatccggctt	13	6	0	2	rs2306220	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:129511373T>C	ENST00000421865.2	+	11	1540	c.1491T>C	c.(1489-1491)tgT>tgC	p.C497C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	497	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGGAGACTGTAGTCGTTGCA	0.418													T|||	283	0.0565096	0.0166	0.013	5008	,	,		19927	0.1339		0.0189	False		,,,				2504	0.1002				p.C497C		Atlas-SNP	.											.	LAMA2	481	.	0			c.T1491C						PASS	.	T	,	60,4346	58.7+/-95.3	0,60,2143	135	132	133		1491,1491	0.6	1	6	dbSNP_100	133	96,8504	53.1+/-113.8	1,94,4205	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	1,154,6348	CC,CT,TT		1.1163,1.3618,1.1994	,	497/3123,497/3119	129511373	156,12850	2203	4300	6503	SO:0001819	synonymous_variant	3908	exon11			AGACTGTAGTCGT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1491T>C	6.37:g.129511373T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	55	4	0.0727273	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			T|0.969;C|0.031	0.031	strong		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			C	129511373	T	C	129511373	2	2	27	1	0	0	0	0	0	0	0	1	8606	1644	57	2		2	LAMA2	6	129511373	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6385235	129511373	41603694	223	21911										
HBS1L	10767	hgsc.bcm.edu	37	chr6	135287533	135287533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgaacctccccagctctttAaagtctttatatagctcaag	5	11	3	1	rs13064	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:135287533A>G	ENST00000367837.5	-	17	2183	c.1977T>C	c.(1975-1977)ttT>ttC	p.F659F	HBS1L_ENST00000367826.2_Silent_p.F617F|HBS1L_ENST00000415177.2_Silent_p.F594F|HBS1L_ENST00000527578.1_Silent_p.F495F|HBS1L_ENST00000367824.4_Silent_p.F495F|HBS1L_ENST00000445176.2_Silent_p.F383F	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	659					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCAGCTCTTTAAAGTCTTTAT	0.368													A|||	1299	0.259385	0.1906	0.2378	5008	,	,		16977	0.245		0.3549	False		,,,				2504	0.2843				p.F659F		Atlas-SNP	.											.	HBS1L	75	.	0			c.T1977C						PASS	.	A	,	1011,3395	376.8+/-322.2	113,785,1305	143	136	138		1851,1977	-9	0.4	6	dbSNP_52	138	3205,5395	484.5+/-371.4	595,2015,1690	no	coding-synonymous,coding-synonymous	HBS1L	NM_001145158.1,NM_006620.3	,	708,2800,2995	GG,GA,AA		37.2674,22.946,32.4158	,	617/643,659/685	135287533	4216,8790	2203	4300	6503	SO:0001819	synonymous_variant	10767	exon17			CTCTTTAAAGTCT	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1977T>C	6.37:g.135287533A>G		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	98	6	0.0612245	NM_006620	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1																																																																																			A|0.692;G|0.308	0.308	strong		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			G	135287533	A	G	135287533	2	3	27	1	0	0	0	0	0	0	0	1	6987	359	13	2		2	HBS1L	6	135287533	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5776160	135287533	35827534	224	21912										
MAP3K5	4217	hgsc.bcm.edu	37	chr6	136944063	136944063	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgacctgcgtagactatcccAtaagtgccttttcctaaaac	6	13	0	1	rs3765258	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:136944063A>G	ENST00000359015.4	-	15	2433	c.2073T>C	c.(2071-2073)taT>taC	p.Y691Y	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGACTATCCCATAAGTGCCTT	0.393													G|||	733	0.146366	0.2988	0.1326	5008	,	,		20182	0.2192		0.008	False		,,,				2504	0.0174				p.Y691Y		Atlas-SNP	.											.	MAP3K5	136	.	0			c.T2073C						PASS	.	G		1113,3293	718.8+/-408.9	135,843,1225	205	208	207		2073	-10.1	0.1	6	dbSNP_107	207	39,8561	817.6+/-406.9	0,39,4261	no	coding-synonymous	MAP3K5	NM_005923.3		135,882,5486	GG,GA,AA		0.4535,25.261,8.8575		691/1375	136944063	1152,11854	2203	4300	6503	SO:0001819	synonymous_variant	4217	exon15			TATCCCATAAGTG	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2073T>C	6.37:g.136944063A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	CCDS5179.1																																																																																			A|0.870;G|0.130	0.130	strong		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			G	136944063	A	G	136944063	2	3	27	1	0	0	0	0	0	0	0	1	9253	224	8	2		2	MAP3K5	6	136944063	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1656530	136944063	34171004	225	21913										
FBXO30	84085	hgsc.bcm.edu	37	chr6	146125793	146125793	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgaactccaaatgacctcaaAtggcggtcatgtataatctt	7	9	3	2	rs3811102	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:146125793A>T	ENST00000237281.4	-	2	1915	c.1749T>A	c.(1747-1749)caT>caA	p.H583Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	583			H -> Q (in dbSNP:rs3811102). {ECO:0000269|Ref.3}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCTCAAATGGCGGTCAT	0.418																																					p.H583Q		Atlas-SNP	.											.	FBXO30	56	.	0			c.T1749A						PASS	.	A	GLN/HIS	960,3446	362.6+/-316.2	110,740,1353	99	86	91		1749	0.4	0.9	6	dbSNP_107	91	3546,5052	515.7+/-378.7	724,2098,1477	yes	missense	FBXO30	NM_032145.4	24	834,2838,2830	TT,TA,AA		41.2421,21.7885,34.6509	probably-damaging	583/746	146125793	4506,8498	2203	4299	6502	SO:0001583	missense	84085	exon2			CCTCAAATGGCGG	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1749T>A	6.37:g.146125793A>T	ENSP00000237281:p.His583Gln	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	114	6	0.0526316	NM_032145	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	654	0.29945054945054944	106	0.21544715447154472	89	0.24585635359116023	149	0.26048951048951047	310	0.40897097625329815	A	9.123	1.009522	0.19277	0.217885	0.412421	ENSG00000118496	ENST00000237281	T	0.17213	2.29	5.73	0.452	0.16634	.	0.135004	0.64402	N	0.000002	T	0.03520	0.0101	L	0.29908	0.895	0.23030	P	0.99840109	B	0.06786	0.001	B	0.12156	0.007	T	0.35375	-0.9791	9	0.46703	T	0.11	-7.8808	5.4721	0.16676	0.5341:0.2505:0.2154:0.0	rs3811102;rs17822232;rs3811102	583	Q8TB52	FBX30_HUMAN	Q	583	ENSP00000237281:H583Q	ENSP00000237281:H583Q	H	-	3	2	FBXO30	146167486	0.953000	0.32496	0.912000	0.35992	0.957000	0.61999	0.282000	0.18829	-0.138000	0.11434	0.533000	0.62120	CAT	A|0.672;T|0.328	0.328	strong		0.418	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			T	146125793	A	T	146125793	3	4	27	1	0	0	0	0	1	0	0	0	5740	98	4	5	496	5	FBXO30	6	146125793	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	9181730	146125793	24989274	226	21914										
MTHFD1L	25902	hgsc.bcm.edu	37	chr6	151336739	151336739	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcccctgctatcactggtcCgttggtggaaaaggatcggt	13	10	1	0	rs509474	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:151336739C>G	ENST00000367321.3	+	24	2770	c.2496C>G	c.(2494-2496)tcC>tcG	p.S832S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	832	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATCACTGGTCCGTTGGTGGAA	0.527													G|||	2856	0.570288	0.8585	0.4726	5008	,	,		17253	0.6766		0.4374	False		,,,				2504	0.2771				p.S833S		Atlas-SNP	.											.	MTHFD1L	75	.	0			c.C2499G						PASS	.	G	,,	3504,902	349.3+/-310.3	1396,712,95	141	126	131		2499,2301,2496	-7.9	0	6	dbSNP_83	131	3846,4754	610.3+/-395.7	862,2122,1316	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	,,	2258,2834,1411	GG,GC,CC		44.7209,20.4721,43.4876	,,	833/980,767/914,832/979	151336739	7350,5656	2203	4300	6503	SO:0001819	synonymous_variant	25902	exon24			CTGGTCCGTTGGT	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2496C>G	6.37:g.151336739C>G		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	172	7	0.0406977	NM_001242767	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	CCDS5228.1																																																																																			C|0.428;G|0.572	0.572	strong		0.527	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		G	151336739	C	G	151336739	2	3	27	1	0	0	0	0	0	0	0	1	9928	639	23	4		4	MTHFD1L	6	151336739	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5210946	151336739	19778328	227	21915										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159398633	159398633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcttcatcttgccctaagagTtctctctcttccataaactt	3	13	5	1	rs3756988	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:159398633T>C	ENST00000252655.1	-	8	1809	c.1620A>G	c.(1618-1620)gaA>gaG	p.E540E	RSPH3_ENST00000449822.1_Silent_p.E302E|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000367069.2_Silent_p.E398E|RSPH3_ENST00000297262.3_Silent_p.E444E	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	540								p.E540E(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCCCTAAGAGTTCTCTCTCTT	0.448													C|||	1064	0.21246	0.0651	0.3746	5008	,	,		18032	0.3919		0.1034	False		,,,				2504	0.2239				p.E540E		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - coding silent(1)	stomach(1)	c.A1620G						PASS	.	C		404,4002	788.9+/-415.0	12,380,1811	261	246	251		1620	-5.7	0	6	dbSNP_107	251	926,7674	777.0+/-407.7	61,804,3435	no	coding-synonymous	RSPH3	NM_031924.4		73,1184,5246	CC,CT,TT		10.7674,9.1693,10.226		540/561	159398633	1330,11676	2203	4300	6503	SO:0001819	synonymous_variant	83861	exon8			TAAGAGTTCTCTC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1620A>G	6.37:g.159398633T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	73	6	0.0821918	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	CCDS5260.1																																																																																			T|0.844;C|0.156	0.156	strong		0.448	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		C	159398633	T	C	159398633	2	2	27	1	0	0	0	0	0	0	0	1	13705	1722	60	2		2	RSPH3	6	159398633	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	8061894	159398633	11716434	228	21916										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159398700	159398700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgttgttctttgtaggtagCctccatctaaaagcagctcc	8	10	2	0	rs3756987	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:159398700C>T	ENST00000252655.1	-	8	1742	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D	RSPH3_ENST00000449822.1_Missense_Mutation_p.G280D|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000367069.2_Missense_Mutation_p.G376D|RSPH3_ENST00000297262.3_Missense_Mutation_p.G422D	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	518			G -> D (in dbSNP:rs3756987).					p.G518D(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTGTAGGTAGCCTCCATCTAA	0.488													T|||	1064	0.21246	0.0651	0.3746	5008	,	,		16377	0.3919		0.1034	False		,,,				2504	0.2239				p.G518D		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.G1553A						PASS	.	T	ASP/GLY	404,4002	788.9+/-415.0	12,380,1811	198	185	190		1553	2.8	0	6	dbSNP_107	190	926,7674	777.0+/-407.7	61,804,3435	yes	missense	RSPH3	NM_031924.4	94	73,1184,5246	TT,TC,CC		10.7674,9.1693,10.226	benign	518/561	159398700	1330,11676	2203	4300	6503	SO:0001583	missense	83861	exon8			AGGTAGCCTCCAT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1553G>A	6.37:g.159398700C>T	ENSP00000252655:p.Gly518Asp	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	92	7	0.076087	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	469	0.21474358974358973	33	0.06707317073170732	109	0.3011049723756906	244	0.42657342657342656	83	0.10949868073878628	T	0.023	-1.405423	0.01155	0.091693	0.107674	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.10382	2.91;2.92;2.89;2.88	3.96	2.75	0.32379	.	0.930568	0.08825	N	0.888160	T	0.00695	0.0023	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47235	-0.9133	9	0.05833	T	0.94	-0.913	3.7359	0.08510	0.1874:0.109:0.0:0.7036	rs3756987;rs59000492;rs3756987	422;518	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	D	376;280;518;422	ENSP00000356036:G376D;ENSP00000393195:G280D;ENSP00000252655:G518D;ENSP00000297262:G422D	ENSP00000252655:G518D	G	-	2	0	RSPH3	159318688	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.408000	0.34668	0.060000	0.16281	-0.893000	0.02921	GGC	C|0.842;T|0.158	0.158	strong		0.488	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159398700	C	T	159398700	3	4	27	1	0	0	0	0	1	0	0	0	13705	739	26	2	133	2	RSPH3	6	159398700	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	67	159398700	11716367	229	21917										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159399348	159399348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggttttttcaacttcattcAttagccatggaagaaatcct	6	8	3	1	rs768994	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:159399348A>G	ENST00000252655.1	-	7	1505	c.1316T>C	c.(1315-1317)aTg>aCg	p.M439T	RSPH3_ENST00000449822.1_Missense_Mutation_p.M201T|RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000367069.2_Missense_Mutation_p.M297T|RSPH3_ENST00000297262.3_Missense_Mutation_p.M343T	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	439			M -> T (in dbSNP:rs768994).					p.M439T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AACTTCATTCATTAGCCATGG	0.299													A|||	981	0.195887	0.0492	0.3429	5008	,	,		14515	0.3919		0.0765	False		,,,				2504	0.2106				p.M439T		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.T1316C						scavenged	.	A	THR/MET	307,4095	164.4+/-196.0	9,289,1903	58	56	57		1316	5.6	1	6	dbSNP_86	57	712,7862	171.7+/-222.6	37,638,3612	yes	missense	RSPH3	NM_031924.4	81	46,927,5515	GG,GA,AA		8.3042,6.9741,7.853	probably-damaging	439/561	159399348	1019,11957	2201	4287	6488	SO:0001583	missense	83861	exon7			TCATTCATTAGCC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1316T>C	6.37:g.159399348A>G	ENSP00000252655:p.Met439Thr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	89	3	0.0337079	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	422	0.19322344322344323	24	0.04878048780487805	94	0.2596685082872928	244	0.42657342657342656	60	0.079155672823219	A	19.24	3.789284	0.70337	0.069741	0.083042	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.57	5.57	0.84162	.	0.083199	0.85682	D	0.000000	T	0.20088	0.0483	M	0.73430	2.235	0.09310	P	0.99999176289	P;P	0.41232	0.724;0.743	B;P	0.47075	0.376;0.536	T	0.02333	-1.1175	9	0.41790	T	0.15	-24.6425	15.3989	0.74823	1.0:0.0:0.0:0.0	rs768994;rs52797265;rs60633343;rs768994	343;439	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	T	297;201;439;343	ENSP00000356036:M297T;ENSP00000393195:M201T;ENSP00000252655:M439T;ENSP00000297262:M343T	ENSP00000252655:M439T	M	-	2	0	RSPH3	159319336	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.445000	0.90326	2.124000	0.65301	0.477000	0.44152	ATG	A|0.862;G|0.138	0.138	strong		0.299	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		G	159399348	A	G	159399348	3	3	27	1	0	0	0	0	1	0	0	0	13705	217	8	2	374	2	RSPH3	6	159399348	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	648	159399348	11715719	230	21918										
RSPH3	83861	hgsc.bcm.edu	37	chr6	159407446	159407446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagctctagagaatcaggcCgtccgagctaacagtgatag	13	9	2	2	rs34582178	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:159407446C>T	ENST00000252655.1	-	3	827	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	RSPH3_ENST00000449822.1_Intron|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R71Q|RSPH3_ENST00000297262.3_Intron	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	213			R -> Q (in dbSNP:rs34582178).					p.R213Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGAATCAGGCCGTCCGAGCTA	0.433													T|||	1064	0.21246	0.0651	0.3746	5008	,	,		17667	0.3919		0.1034	False		,,,				2504	0.2239				p.R213Q		Atlas-SNP	.											RSPH3,NS,carcinoma,0,1	RSPH3	48	1	1	Substitution - Missense(1)	stomach(1)	c.G638A						PASS	.	T	GLN/ARG	404,4002	788.9+/-415.0	12,380,1811	173	150	158		638	4.5	0.9	6	dbSNP_126	158	926,7674	777.0+/-407.7	61,804,3435	yes	missense	RSPH3	NM_031924.4	43	73,1184,5246	TT,TC,CC		10.7674,9.1693,10.226	benign	213/561	159407446	1330,11676	2203	4300	6503	SO:0001583	missense	83861	exon3			TCAGGCCGTCCGA	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.638G>A	6.37:g.159407446C>T	ENSP00000252655:p.Arg213Gln	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	469	0.21474358974358973	33	0.06707317073170732	109	0.3011049723756906	244	0.42657342657342656	83	0.10949868073878628	T	1.013	-0.687310	0.03328	0.091693	0.107674	ENSG00000130363	ENST00000367069;ENST00000252655	T;T	0.15952	2.38;2.38	5.64	4.47	0.54385	.	0.266353	0.37483	N	0.002061	T	0.00906	0.0030	N	0.00280	-1.71	0.09310	P	0.9999999999999999	B	0.06786	0.001	B	0.04013	0.001	T	0.46442	-0.9191	9	0.02654	T	1	-22.7582	9.8258	0.40910	0.0:0.1457:0.0:0.8543	rs34582178	213	Q86UC2	RSPH3_HUMAN	Q	71;213	ENSP00000356036:R71Q;ENSP00000252655:R213Q	ENSP00000252655:R213Q	R	-	2	0	RSPH3	159327434	1.000000	0.71417	0.862000	0.33874	0.024000	0.10985	2.353000	0.44089	0.981000	0.38548	-0.269000	0.10298	CGG	C|0.861;T|0.139	0.139	strong		0.433	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159407446	C	T	159407446	3	4	27	1	0	0	0	0	1	0	0	0	13705	652	23	1	1068	1	RSPH3	6	159407446	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8098	159407446	11707621	231	21919										
WTAP	9589	hgsc.bcm.edu	37	chr6	160169258	160169258	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcaagcaagtccagcagccGagcgttgcccaactgagatc	10	14	1	1	rs7766006	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:160169258G>T	ENST00000358372.4	+	6	2066	c.309G>T	c.(307-309)ccG>ccT	p.P103P	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.P103P	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	103					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCCAGCAGCCGAGCGTTGCCC	0.423													G|||	1304	0.260383	0.1747	0.2161	5008	,	,		20479	0.4256		0.2097	False		,,,				2504	0.2894				p.P103P		Atlas-SNP	.											WTAP,NS,carcinoma,+2,1	WTAP	44	1	0			c.G309T						scavenged	.	G	,,	843,3563	333.3+/-302.9	92,659,1452	63	63	63		309,309,309	2.3	1	6	dbSNP_116	63	1498,7102	284.0+/-296.4	138,1222,2940	no	coding-synonymous,coding-synonymous,coding-synonymous	WTAP	NM_004906.3,NM_152857.1,NM_152858.1	,,	230,1881,4392	TT,TG,GG		17.4186,19.133,17.9994	,,	103/397,103/152,103/152	160169258	2341,10665	2203	4300	6503	SO:0001819	synonymous_variant	9589	exon6			GCAGCCGAGCGTT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.309G>T	6.37:g.160169258G>T		Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	350	5	0.0142857	NM_001270533	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	CCDS5266.1																																																																																			G|0.800;T|0.200	0.200	strong		0.423	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		T	160169258	G	T	160169258	2	4	27	1	0	0	0	0	0	0	0	1	17406	1045	37	4		4	WTAP	6	160169258	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	761812	160169258	10945809	232	21920										
SFT2D1	113402	hgsc.bcm.edu	37	chr6	166739646	166739646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agcagcacacagggtaaataTgaaacacaactacaggggaa	10	8	0	1	rs11551053	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:166739646T>C	ENST00000361731.3	-	5	434	c.325A>G	c.(325-327)Ata>Gta	p.I109V	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1									p.I109V(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AGGGTAAATATGAAACACAAC	0.413													C|||	557	0.111222	0.0356	0.0793	5008	,	,		18011	0.3313		0.0398	False		,,,				2504	0.0828				p.I109V		Atlas-SNP	.											SFT2D1,colon,carcinoma,+1,2	SFT2D1	12	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.A325G						scavenged	.	C	VAL/ILE	147,4259	812.6+/-416.1	1,145,2057	82	78	79		325	-1.3	0	6	dbSNP_120	79	304,8296	805.6+/-407.3	5,294,4001	yes	missense	SFT2D1	NM_145169.1	29	6,439,6058	CC,CT,TT		3.5349,3.3364,3.4676	benign	109/160	166739646	451,12555	2203	4300	6503	SO:0001583	missense	113402	exon5			TAAATATGAAACA	AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 83"	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.325A>G	6.37:g.166739646T>C	ENSP00000354590:p.Ile109Val	Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	302	10	0.0331126	NM_145169		Missense_Mutation	SNP	ENST00000361731.3	37	CCDS5292.1	278	0.12728937728937728	19	0.03861788617886179	26	0.0718232044198895	199	0.3479020979020979	34	0.044854881266490766	C	0	-2.803354	0.00075	0.033364	0.035349	ENSG00000198818	ENST00000361731	T	0.58652	0.32	4.98	-1.34	0.09143	.	0.690574	0.13904	N	0.354704	T	0.07458	0.0188	N	0.03209	-0.39	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25012	-1.0144	9	0.02654	T	1	-6.1183	5.4909	0.16774	0.1304:0.4651:0.0:0.4045	rs11551053;rs36102427;rs60635309	109	Q8WV19	SFT2A_HUMAN	V	109	ENSP00000354590:I109V	ENSP00000354590:I109V	I	-	1	0	SFT2D1	166659636	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.557000	0.02166	-0.259000	0.09432	-1.008000	0.02478	ATA	T|0.932;C|0.068	0.068	strong		0.413	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169		C	166739646	T	C	166739646	3	2	27	1	0	0	0	0	1	0	0	0	14185	1464	51	2	170	2	SFT2D1	6	166739646	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6570388	166739646	4375421	233	21921										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627869	170627869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caggcaagaagttcccatgtAtacaggccctgaatccaggc	10	12	0	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:170627869A>G	ENST00000476287.1	+	2	1499	c.1391A>G	c.(1390-1392)tAt>tGt	p.Y464C	FAM120B_ENST00000537664.1_Missense_Mutation_p.Y487C|FAM120B_ENST00000540480.1_Missense_Mutation_p.Y476C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	464					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTTCCCATGTATACAGGCCCT	0.473																																					p.Y464C		Atlas-SNP	.											FAM120B,NS,carcinoma,+1,1	FAM120B	108	1	0			c.A1391G						scavenged	.						158	171	167					6																	170627869		2203	4300	6503	SO:0001583	missense	84498	exon2			CCATGTATACAGG	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1391A>G	6.37:g.170627869A>G	ENSP00000417970:p.Tyr464Cys	Somatic	170	8	0.0470588		WXS	Illumina HiSeq	Phase_I	160	14	0.0875	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.569559	0.00895	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07688	3.17;3.17;3.17	2.33	-4.67	0.03319	.	2.051180	0.02593	N	0.100141	T	0.00724	0.0024	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41574	-0.9501	10	0.36615	T	0.2	.	5.1008	0.14759	0.2586:0.0:0.3377:0.4037	.	464;464	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	476;487;464	ENSP00000444125:Y476C;ENSP00000440125:Y487C;ENSP00000417970:Y464C	ENSP00000436640:Y464C	Y	+	2	0	FAM120B	170469794	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.507000	0.00448	-4.063000	0.00077	-1.462000	0.01023	TAT	.	.	none		0.473	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627869	A	G	170627869	3	3	27	1	0	0	0	0	1	0	0	0	5417	449	16	2	1393	2	FAM120B	6	170627869	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3888223	170627869	487198	234	21922										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170627883	170627883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccatgtatacaggccctgaaTccaggcaagaagttcccatg	9	12	0	2	rs143059540	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr6:170627883T>G	ENST00000476287.1	+	2	1513	c.1405T>G	c.(1405-1407)Tcc>Gcc	p.S469A	FAM120B_ENST00000537664.1_Missense_Mutation_p.S492A|FAM120B_ENST00000540480.1_Missense_Mutation_p.S481A|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	469					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCCCTGAATCCAGGCAAGA	0.468																																					p.S469A		Atlas-SNP	.											FAM120B,NS,carcinoma,0,2	FAM120B	108	2	0			c.T1405G						scavenged	.						150	161	157					6																	170627883		2203	4300	6503	SO:0001583	missense	84498	exon2			CCTGAATCCAGGC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1405T>G	6.37:g.170627883T>G	ENSP00000417970:p.Ser469Ala	Somatic	179	4	0.0223464		WXS	Illumina HiSeq	Phase_I	157	11	0.0700637	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.023375	0.00414	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08370	3.13;3.1;3.13	1.31	-2.63	0.06133	.	1.867690	0.03051	N	0.154568	T	0.01287	0.0042	L	0.58101	1.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53599	-0.8416	10	0.07644	T	0.81	.	2.1106	0.03702	0.1737:0.1223:0.1139:0.5901	.	469;469	Q96EK7;F2Z2E1	F120B_HUMAN;.	A	481;492;469	ENSP00000444125:S481A;ENSP00000440125:S492A;ENSP00000417970:S469A	ENSP00000436640:S469A	S	+	1	0	FAM120B	170469808	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.559000	0.00216	-6.111000	0.00006	-3.860000	0.00018	TCC	T|1.000;C|0.000	.	alt		0.468	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170627883	T	G	170627883	3	3	27	1	0	0	0	0	1	0	0	0	5417	1435	50	5	1407	5	FAM120B	6	170627883	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	14	170627883	487184	235	21923										
FAM126A	84668	hgsc.bcm.edu	37	chr7	23015831	23015831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acttgaattttactttacctTgaacaaatttgacacagtga	5	7	0	4	rs3735231	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:23015831T>C	ENST00000432176.2	-	7	856	c.624A>G	c.(622-624)tcA>tcG	p.S208S	FAM126A_ENST00000409923.1_Silent_p.S208S	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	208					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TACTTTACCTTGAACAAATTT	0.318													T|||	1877	0.3748	0.3578	0.33	5008	,	,		18391	0.4663		0.3628	False		,,,				2504	0.3476				p.S208S		Atlas-SNP	.											FAM126A,NS,carcinoma,-1,1	FAM126A	53	1	0			c.A624G						scavenged	.	T		1514,2892	479.2+/-358.4	276,962,965	86	84	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	624	5.5	1	7	dbSNP_107	85	2966,5632	460.2+/-365.1	518,1930,1851	no	coding-synonymous	FAM126A	NM_032581.3		794,2892,2816	CC,CT,TT		34.4964,34.3622,34.4509		208/522	23015831	4480,8524	2203	4299	6502	SO:0001819	synonymous_variant	84668	exon7			TTACCTTGAACAA	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.624A>G	7.37:g.23015831T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	CCDS5377.1	823	0.3768315018315018	154	0.3130081300813008	130	0.35911602209944754	269	0.47027972027972026	270	0.3562005277044855	T	12.31	1.900832	0.33535	0.343622	0.344964	ENSG00000122591	ENST00000440481	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.43653	-0.9378	3	.	.	.	-16.156	15.587	0.76491	0.0:0.0:0.0:1.0	rs3735231;rs10368120;rs17147509;rs58350469;rs3735231	.	.	.	R	260	.	.	Q	-	2	0	FAM126A	22982356	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.643000	0.37217	2.092000	0.63282	0.374000	0.22700	CAA	T|0.643;C|0.357	0.357	strong		0.318	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		C	23015831	T	C	23015831	2	2	27	1	0	0	0	0	0	0	0	1	5429	1799	63	2		2	FAM126A	7	23015831	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10		23015831	136122832	236	21924										
VPS41	27072	hgsc.bcm.edu	37	chr7	38796570	38796570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agagcattgccatagttcttGtcataggtgtacctggtaat	10	7	2	1	rs2240350	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:38796570G>A	ENST00000310301.4	-	19	1617	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	VPS41_ENST00000395969.2_Silent_p.D496D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	521					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATAGTTCTTGTCATAGGTGT	0.299													G|||	1794	0.358227	0.2549	0.5965	5008	,	,		16905	0.4206		0.3469	False		,,,				2504	0.2761				p.D521D		Atlas-SNP	.											.	VPS41	102	.	0			c.C1563T						PASS	.	G	,	1278,3126	433.5+/-343.6	186,906,1110	103	106	105		1563,1488	4.1	1	7	dbSNP_98	105	3076,5516	469.7+/-367.6	510,2056,1730	no	coding-synonymous,coding-synonymous	VPS41	NM_014396.3,NM_080631.3	,	696,2962,2840	AA,AG,GG		35.8007,29.0191,33.5026	,	521/855,496/830	38796570	4354,8642	2202	4296	6498	SO:0001819	synonymous_variant	27072	exon19			GTTCTTGTCATAG	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1563C>T	7.37:g.38796570G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	109	5	0.0458716	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	CCDS5457.1																																																																																			G|0.643;A|0.357	0.357	strong		0.299	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			A	38796570	G	A	38796570	2	1	27	1	0	0	0	0	0	0	0	1	17207	1368	48	2		2	VPS41	7	38796570	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	15780739	38796570	120342093	237	21925										
TYW1	55253	hgsc.bcm.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																					p.T145T		Atlas-SNP	.											TYW1,NS,carcinoma,0,1	TYW1	71	1	1	Substitution - coding silent(1)	urinary_tract(1)	c.T435C						scavenged	.																																			SO:0001819	synonymous_variant	55253	exon5			ACCAACTGAAAGT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C		Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	275	4	0.0145455	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			.	.	weak		0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		C	66479413	T	C	66479413	2	2	27	1	0	0	0	0	0	0	0	1	16815	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	27682843	66479413	92659250	238	21926										
SEMA3E	9723	hgsc.bcm.edu	37	chr7	83037731	83037731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagtgcggatatgggccagtCgccccatgctgcggaagatc	14	12	0	1	rs61729612	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:83037731C>G	ENST00000307792.3	-	6	1090	c.623G>C	c.(622-624)cGa>cCa	p.R208P	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R148P	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	208	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATGGGCCAGTCGCCCCATGCT	0.468													C|||	489	0.0976438	0.0651	0.1081	5008	,	,		15618	0.1528		0.1243	False		,,,				2504	0.0501				p.R208P		Atlas-SNP	.											.	SEMA3E	125	.	0			c.G623C						PASS	.	C	PRO/ARG,PRO/ARG	346,4060	178.3+/-207.1	23,300,1880	68	63	64		443,623	1.9	0	7	dbSNP_129	64	1106,7494	230.5+/-264.8	89,928,3283	yes	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	103,103	112,1228,5163	GG,GC,CC		12.8605,7.8529,11.1641	benign,benign	148/716,208/776	83037731	1452,11554	2203	4300	6503	SO:0001583	missense	9723	exon6			GCCAGTCGCCCCA	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.623G>C	7.37:g.83037731C>G	ENSP00000303212:p.Arg208Pro	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	109	5	0.0458716	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	259	0.11858974358974358	35	0.07113821138211382	36	0.09944751381215469	92	0.16083916083916083	96	0.1266490765171504	C	7.232	0.599571	0.13939	0.078529	0.128605	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.11063	2.81;2.81;2.81	5.9	1.88	0.25563	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.528179	0.20402	N	0.093037	T	0.00039	0.0001	N	0.16201	0.385	0.80722	P	0.0	B	0.02656	0.0	B	0.13407	0.009	T	0.44605	-0.9317	9	0.13853	T	0.58	.	4.4154	0.11454	0.1454:0.5388:0.0:0.3158	rs61729612	208	O15041	SEM3E_HUMAN	P	208;148;208;148	ENSP00000303212:R208P;ENSP00000405052:R148P;ENSP00000412867:R148P	ENSP00000303212:R208P	R	-	2	0	SEMA3E	82875667	0.206000	0.23470	0.001000	0.08648	0.636000	0.38137	1.147000	0.31602	0.325000	0.23359	0.591000	0.81541	CGA	C|0.877;G|0.123	0.123	strong		0.468	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		G	83037731	C	G	83037731	3	3	27	1	0	0	0	0	1	0	0	0	14028	884	31	4	1752	4	SEMA3E	7	83037731	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	16558318	83037731	76100932	239	21927										
C7orf63	79846	hgsc.bcm.edu	37	chr7	89906609	89906609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgaagaaattactattcaaCgtaattgtgatcttatgtaa	6	4	2	3	rs3761805	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:89906609C>T	ENST00000389297.4	+	11	1367	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	C7orf63_ENST00000316089.8_Silent_p.N372N|C7orf63_ENST00000497910.1_Silent_p.N354N	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		372										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACTATTCAACGTAATTGTGA	0.284													T|||	2022	0.403754	0.4206	0.3905	5008	,	,		16063	0.6855		0.2286	False		,,,				2504	0.2802				p.N372N		Atlas-SNP	.											C7orf63_ENST00000389297,colon,carcinoma,+2,2	C7orf63	158	2	0			c.C1116T						scavenged	.	T	,	1262,2320		226,810,755	39	41	40		1116,1062	1.1	1	7	dbSNP_107	40	1491,6557		133,1225,2666	no	coding-synonymous,coding-synonymous	C7orf63	NM_001039706.2,NM_001160138.1	,	359,2035,3421	TT,TC,CC		18.5263,35.2317,23.6715	,	372/942,354/924	89906609	2753,8877	1791	4024	5815	SO:0001819	synonymous_variant	79846	exon11			ATTCAACGTAATT																												ENST00000389297.4:c.1116C>T	7.37:g.89906609C>T		Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	263	8	0.0304183	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2																																																																																			C|0.602;T|0.398	0.398	strong		0.284	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89906609	C	T	89906609	2	4	27	1	0	0	0	0	0	0	0	1	2409	535	19	1		1	C7orf63	7	89906609	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	6868878	89906609	69232054	240	21928										
SAMD9L	219285	hgsc.bcm.edu	37	chr7	92762681	92762681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccttcagtttggcaccaaaAgctctttgttccttggaaga	8	10	2	1	rs1029357	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:92762681A>G	ENST00000318238.4	-	5	3820	c.2604T>C	c.(2602-2604)gcT>gcC	p.A868A	SAMD9L_ENST00000411955.1_Silent_p.A868A|SAMD9L_ENST00000437805.1_Silent_p.A868A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	868					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.A868A(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGCACCAAAAGCTCTTTGTT	0.353													A|||	1456	0.290735	0.5174	0.3285	5008	,	,		21598	0.3482		0.0716	False		,,,				2504	0.1237				p.A868A		Atlas-SNP	.											SAMD9L,NS,carcinoma,0,1	SAMD9L	227	1	1	Substitution - coding silent(1)	stomach(1)	c.T2604C						scavenged	.	A		1856,2548	517.3+/-369.4	407,1042,753	83	92	89		2604	-0.6	1	7	dbSNP_86	89	705,7893	172.3+/-223.0	29,647,3623	no	coding-synonymous	SAMD9L	NM_152703.2		436,1689,4376	GG,GA,AA		8.1996,42.1435,19.697		868/1585	92762681	2561,10441	2202	4299	6501	SO:0001819	synonymous_variant	219285	exon5			ACCAAAAGCTCTT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2604T>C	7.37:g.92762681A>G		Somatic	131	1	0.00763359		WXS	Illumina HiSeq	Phase_I	114	4	0.0350877	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																			A|0.774;G|0.226	0.226	strong		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		G	92762681	A	G	92762681	2	3	27	1	0	0	0	0	0	0	0	1	13827	59	3	3		3	SAMD9L	7	92762681	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2856072	92762681	66375982	241	21929										
CCDC132	55610	hgsc.bcm.edu	37	chr7	92887682	92887682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttcagcaaagaacagatgTacggttaagtgaaatgctgg	11	5	1	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:92887682T>C	ENST00000305866.5	+	8	682	c.554T>C	c.(553-555)gTa>gCa	p.V185A	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.V185A|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.V155A	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	185						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)			AGAACAGATGTACGGTTAAGT	0.303																																					p.V185A		Atlas-SNP	.											.	CCDC132	136	.	0			c.T554C						PASS	.						117	121	120					7																	92887682		2203	4300	6503	SO:0001583	missense	55610	exon8			CAGATGTACGGTT	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.554T>C	7.37:g.92887682T>C	ENSP00000307666:p.Val185Ala	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	281	61	0.217082	NM_024553	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106232	0.77096	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.5	5.5	0.81552	Vacuolar protein sorting-associated protein 54 (1);	0.061028	0.64402	D	0.000004	T	0.60327	0.2260	L	0.46157	1.445	0.80722	D	1	P;P;B	0.51147	0.541;0.942;0.2	B;P;B	0.53549	0.329;0.729;0.049	T	0.55237	-0.8172	9	0.08837	T	0.75	-16.6226	15.9126	0.79482	0.0:0.0:0.0:1.0	.	155;185;185	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	A	185;185;155;184	.	ENSP00000251739:V185A	V	+	2	0	CCDC132	92725618	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	8.040000	0.89188	2.222000	0.72286	0.477000	0.44152	GTA	.	.	none		0.303	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92887682	T	C	92887682	3	2	27	1	0	0	0	0	1	0	0	0	2767	1638	57	2	584	2	CCDC132	7	92887682	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	125001	92887682	66250981	242	21930										
NAPEPLD	222236	hgsc.bcm.edu	37	chr7	102760511	102760511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcgatggtgaagcacgagAgctaaagatgggatccgtga	15	7	0	4	rs12540583	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:102760511A>C	ENST00000417955.1	-	3	608	c.454T>G	c.(454-456)Tct>Gct	p.S152A	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.S152A|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.S152A|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.S152A|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.S225A			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	152			S -> A (in dbSNP:rs12540583).		phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAAGCACGAGAGCTAAAGATG	0.502													A|||	841	0.167931	0.0946	0.1844	5008	,	,		13891	0.2768		0.0974	False		,,,				2504	0.2157				p.S152A		Atlas-SNP	.											.	NAPEPLD	49	.	0			c.T454G						PASS	.	A	ALA/SER,ALA/SER	364,4042	185.7+/-212.7	12,340,1851	169	132	144		454,454	-4.7	0.1	7	dbSNP_120	144	890,7710	199.9+/-243.8	51,788,3461	yes	missense,missense	NAPEPLD	NM_001122838.1,NM_198990.4	99,99	63,1128,5312	CC,CA,AA		10.3488,8.2615,9.6417	benign,benign	152/394,152/394	102760511	1254,11752	2203	4300	6503	SO:0001583	missense	222236	exon3			CACGAGAGCTAAA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.454T>G	7.37:g.102760511A>C	ENSP00000407112:p.Ser152Ala	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_001122838	Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	CCDS5729.1	347	0.15888278388278387	60	0.12195121951219512	58	0.16022099447513813	159	0.27797202797202797	70	0.09234828496042216	A	13.41	2.228637	0.39399	0.082615	0.103488	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.93	-4.69	0.03299	.	0.645957	0.17297	N	0.179417	T	0.00039	0.0001	N	0.25332	0.735	0.48762	P	2.9800000000002047E-4	B;B	0.06786	0.001;0.0	B;B	0.15052	0.012;0.002	T	0.16660	-1.0395	9	0.44086	T	0.13	-5.2249	2.2767	0.04104	0.1181:0.2271:0.3677:0.2871	rs12540583;rs12540583	225;152	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	A	152;152;152;152;225	ENSP00000340093:S152A;ENSP00000407112:S152A;ENSP00000419188:S152A;ENSP00000392775:S152A;ENSP00000414364:S225A	ENSP00000340093:S152A	S	-	1	0	NAPEPLD	102547747	1.000000	0.71417	0.065000	0.19835	0.998000	0.95712	1.650000	0.37292	-0.455000	0.07054	0.482000	0.46254	TCT	A|0.876;C|0.124	0.124	strong		0.502	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		C	102760511	A	C	102760511	3	2	27	1	0	0	0	0	1	0	0	0	10163	304	11	5	739	5	NAPEPLD	7	102760511	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	9872829	102760511	56378152	243	21931										
RELN	5649	hgsc.bcm.edu	37	chr7	103474041	103474041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccagatgaaactgaggttgGttgtgggcaggtgactcacg	15	7	1	4	rs79471015	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:103474041G>C	ENST00000428762.1	-	3	575	c.416C>G	c.(415-417)aCc>aGc	p.T139S	RELN_ENST00000343529.5_Missense_Mutation_p.T139S|RELN_ENST00000424685.2_Missense_Mutation_p.T139S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	139	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAGGTTGGTTGTGGGCAG	0.488													G|||	86	0.0171725	0.0	0.0159	5008	,	,		16300	0.0734		0.0	False		,,,				2504	0.001				p.T139S	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.C416G						PASS	.	G	SER/THR,SER/THR	3,4403	6.2+/-15.9	0,3,2200	122	107	112		416,416	5.3	1	7	dbSNP_131	112	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	58,58	0,7,6496	CC,CG,GG		0.0465,0.0681,0.0538	benign,benign	139/3461,139/3459	103474041	7,12999	2203	4300	6503	SO:0001583	missense	5649	exon3			AGGTTGGTTGTGG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.416C>G	7.37:g.103474041G>C	ENSP00000392423:p.Thr139Ser	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	110	7	0.0636364	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	52	0.023809523809523808	0	0.0	5	0.013812154696132596	47	0.08216783216783216	0	0.0	G	14.71	2.617974	0.46736	6.81E-4	4.65E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.33	5.33	0.75918	Reeler domain (2);	0.115168	0.56097	D	0.000024	T	0.00875	0.0029	N	0.11560	0.145	0.42964	D	0.994417	B;B	0.22746	0.06;0.074	B;B	0.27887	0.05;0.084	T	0.13575	-1.0504	10	0.27785	T	0.31	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	139;139	P78509-2;P78509	.;RELN_HUMAN	S	139	ENSP00000392423:T139S;ENSP00000345694:T139S;ENSP00000388446:T139S	ENSP00000345694:T139S	T	-	2	0	RELN	103261277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.617000	0.67716	2.634000	0.89283	0.650000	0.86243	ACC	G|0.993;C|0.007	0.007	strong		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103474041	G	C	103474041	3	2	27	1	0	0	0	0	1	0	0	0	13220	1261	44	4	10218	4	RELN	7	103474041	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	713530	103474041	55664622	244	21932										
CPA2	1358	hgsc.bcm.edu	37	chr7	129916515	129916515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccatcacttccattctggaTgccctggatatcttcctcct	5	15	3	0	rs17590	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:129916515T>C	ENST00000222481.4	+	7	688	c.633T>C	c.(631-633)gaT>gaC	p.D211D		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	211					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATTCTGGATGCCCTGGATA	0.453													C|||	3467	0.692292	0.6551	0.67	5008	,	,		18837	0.7887		0.6511	False		,,,				2504	0.7014				p.D211D		Atlas-SNP	.											.	CPA2	36	.	0			c.T633C						PASS	.	C		2938,1468	472.4+/-356.4	965,1008,230	230	208	215		633	-1	0	7	dbSNP_63	215	5259,3341	498.1+/-374.7	1603,2053,644	no	coding-synonymous	CPA2	NM_001869.2		2568,3061,874	CC,CT,TT		38.8488,33.3182,36.9752		211/420	129916515	8197,4809	2203	4300	6503	SO:0001819	synonymous_variant	1358	exon7			TCTGGATGCCCTG	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.633T>C	7.37:g.129916515T>C		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	113	5	0.0442478	NM_001869	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	CCDS5817.2																																																																																			T|0.354;C|0.646	0.646	strong		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		C	129916515	T	C	129916515	2	2	27	1	0	0	0	0	0	0	0	1	3790	1461	51	2		2	CPA2	7	129916515	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	26442474	129916515	29222148	245	21933										
WDR91	29062	hgsc.bcm.edu	37	chr7	134880931	134880931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatgagtggtgttccccgtaCtcctcctgtcccagcacaat	9	14	0	1	rs2288240	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:134880931C>T	ENST00000354475.4	-	8	1240	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	WDR91_ENST00000423565.1_Silent_p.E368E|AC009542.2_ENST00000412549.2_RNA|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Silent_p.E403E	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	403										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTTCCCCGTACTCCTCCTGTC	0.622													C|||	286	0.0571086	0.0	0.0331	5008	,	,		17252	0.2093		0.002	False		,,,				2504	0.0511				p.E403E		Atlas-SNP	.											.	WDR91	82	.	0			c.G1209A						PASS	.	C		9,4397	15.5+/-35.6	0,9,2194	80	79	79		1209	4.9	1	7	dbSNP_100	79	20,8580	14.0+/-48.4	0,20,4280	no	coding-synonymous	WDR91	NM_014149.3		0,29,6474	TT,TC,CC		0.2326,0.2043,0.223		403/748	134880931	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	29062	exon8			CCCGTACTCCTCC	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1209G>A	7.37:g.134880931C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																			C|0.966;T|0.034	0.034	strong		0.622	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134880931	C	T	134880931	2	4	27	1	0	0	0	0	0	0	0	1	17335	564	20	2		2	WDR91	7	134880931	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4964416	134880931	24257732	246	21934										
OR6B1	135946	hgsc.bcm.edu	37	chr7	143701884	143701884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgacctcgagttatccatgcCttcaacatgaacaaaattat	5	11	1	1	rs728275	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:143701884C>T	ENST00000408922.2	+	1	863	c.795C>T	c.(793-795)gcC>gcT	p.A265A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, 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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTATCCATGCCTTCAACATGA	0.428													C|||	1939	0.387181	0.3381	0.5461	5008	,	,		23941	0.5823		0.3201	False		,,,				2504	0.2086				p.A265A		Atlas-SNP	.											.	OR6B1	60	.	0			c.C795T						PASS	.	C		1274,2644		199,876,884	138	129	132		795	2.4	1	7	dbSNP_86	132	2979,5325		542,1895,1715	no	coding-synonymous	OR6B1	NM_001005281.1		741,2771,2599	TT,TC,CC		35.8743,32.5166,34.7979		265/312	143701884	4253,7969	1959	4152	6111	SO:0001819	synonymous_variant	135946	exon1			CCATGCCTTCAAC		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.795C>T	7.37:g.143701884C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	CCDS43667.1																																																																																			C|0.586;T|0.414	0.414	strong		0.428	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			T	143701884	C	T	143701884	2	4	27	1	0	0	0	0	0	0	0	1	11187	668	24	2		2	OR6B1	7	143701884	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8820953	143701884	15436779	247	21935										
CTAGE4	100128553	hgsc.bcm.edu	37	chr7	143882697	143882697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcctccacctcttgctccaAtcagcggtccattgtttcca	5	16	2	0	rs145692929	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:143882697A>G	ENST00000486333.1	+	1	2139	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	701	Pro-rich.			IS -> VR (in Ref. 1; BAF84925). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCTTGCTCCAATCAGCGGTCC	0.507																																					p.I701V		Atlas-SNP	.											CTAGE4,right_upper_lobe,carcinoma,-2,1	CTAGE4	10	1	0			c.A2101G						scavenged	.						5	8	7					7																	143882697		623	1434	2057	SO:0001583	missense	100128553	exon1			GCTCCAATCAGCG	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2101A>G	7.37:g.143882697A>G	ENSP00000419539:p.Ile701Val	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	112	8	0.0714286	NM_198495	A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	1.245	-0.620260	0.03636	.	.	ENSG00000225932	ENST00000486333	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.03011	0.0089	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.46857	-0.9161	7	0.02654	T	1	.	.	.	.	.	701	Q8IX94	CTGE4_HUMAN	V	701	ENSP00000419539:I701V	ENSP00000419539:I701V	I	+	1	0	CTAGE4	143513630	0.921000	0.31238	0.013000	0.15412	0.013000	0.08279	0.158000	0.16422	0.149000	0.19098	0.147000	0.16070	ATC	A|0.500;G|0.500	0.500	strong		0.507	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		G	143882697	A	G	143882697	3	3	27	1	0	0	0	0	1	0	0	0	3993	101	4	2	2103	2	CTAGE4	7	143882697	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	180813	143882697	15255966	248	21936										
ARHGEF5	7984	hgsc.bcm.edu	37	chr7	144060802	144060802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcaggacgaaaagagtcaaaCctttttgggaaaatcagagg	11	6	3	2	rs3823677		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:144060802C>T	ENST00000056217.5	+	2	1214	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	347					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AAGAGTCAAACCTTTTTGGGA	0.527																																					p.T347I		Atlas-SNP	.											ARHGEF5,colon,carcinoma,+1,1	ARHGEF5	73	1	0			c.C1040T						scavenged	.						62	56	58					7																	144060802		2079	3981	6060	SO:0001583	missense	7984	exon2			GTCAAACCTTTTT	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1040C>T	7.37:g.144060802C>T	ENSP00000056217:p.Thr347Ile	Somatic	269	1	0.00371747		WXS	Illumina HiSeq	Phase_I	266	12	0.0451128	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	764	0.3498168498168498	142	0.2886178861788618	126	0.34806629834254144	284	0.4965034965034965	212	0.2796833773087071	c	8.471	0.857559	0.17106	.	.	ENSG00000050327	ENST00000056217	T	0.73047	-0.71	3.54	-2.18	0.07037	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.44802	-0.9304	7	.	.	.	-0.3178	0.5401	0.00644	0.2016:0.2872:0.2203:0.2909	.	347	Q12774	ARHG5_HUMAN	I	347	ENSP00000056217:T347I	.	T	+	2	0	ARHGEF5	143691735	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.478000	0.06575	-0.083000	0.12618	-0.235000	0.12190	ACC	.	.	weak		0.527	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		T	144060802	C	T	144060802	3	4	27	1	0	0	0	0	1	0	0	0	909	507	18	2	1042	2	ARHGEF5	7	144060802	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	178105	144060802	15077861	249	21937										
ARHGEF5	7984	hgsc.bcm.edu	37	chr7	144062632	144062632	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	taaggatgaagcaggggtctCagaacaccctgaggcccctg	13	11	1	3	rs202036368		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:144062632C>G	ENST00000056217.5	+	2	3044	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	957					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCAGGGGTCTCAGAACACCCT	0.597																																					p.S957X		Atlas-SNP	.											ARHGEF5,NS,carcinoma,0,1	ARHGEF5	73	1	0			c.C2870G						scavenged	.						2	2	2					7																	144062632		723	1763	2486	SO:0001587	stop_gained	7984	exon2			GGGTCTCAGAACA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2870C>G	7.37:g.144062632C>G	ENSP00000056217:p.Ser957*	Somatic	127	30	0.23622		WXS	Illumina HiSeq	Phase_I	174	41	0.235632	NM_005435	A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.577225|6.577225	0.97676|0.97676	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|.	.|.	.|.	4.06|4.06	2.22|2.22	0.28083|0.28083	.|.	.|0.258318	.|0.20430	.|N	.|0.092497	T|.	0.37237|.	0.0996|.	.|.	.|.	.|.	0.21020|0.21020	N|N	0.99981|0.99981	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20940|.	-1.0260|.	4|.	.|0.48119	.|T	.|0.1	-0.0888|-0.0888	6.3968|6.3968	0.21616|0.21616	0.0:0.7685:0.0:0.2315|0.0:0.7685:0.0:0.2315	.|.	.|.	.|.	.|.	E|X	211|957	.|.	.|ENSP00000056217:S957X	Q|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693565|143693565	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.795000|0.795000	0.26972|0.26972	0.369000|0.369000	0.24510|0.24510	0.555000|0.555000	0.69702|0.69702	CAG|TCA	.	.	weak		0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144062632	C	G	144062632	4	3	27	1	0	0	0	0	0	1	0	0	909	838	29	4	2872	4	ARHGEF5	7	144062632	Nonsense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1830	144062632	15076031	250	21938										
KCNH2	3757	hgsc.bcm.edu	37	chr7	150648789	150648789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atggcgtaccagatgcaggcTagccagtgcgcgatgagcgc	15	11	0	2	rs1805121	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:150648789T>C	ENST00000262186.5	-	7	2093	c.1692A>G	c.(1690-1692)ctA>ctG	p.L564L	KCNH2_ENST00000392968.2_Silent_p.L468L|KCNH2_ENST00000330883.4_Silent_p.L224L|KCNH2_ENST00000430723.3_Silent_p.L564L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	564			L -> P (in LQT2).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGATGCAGGCTAGCCAGTGCG	0.622													C|||	3047	0.608427	0.82	0.4625	5008	,	,		17035	0.8343		0.3608	False		,,,				2504	0.4479				p.L564L	GBM(137;110 1844 13671 20123 45161)	Atlas-SNP	.											KCNH2_ENST00000430723,NS,carcinoma,0,2	KCNH2	157	2	0			c.A1692G						PASS	.	C	,,,	3268,1138	406.2+/-333.8	1230,808,165	75	61	65		1692,672,1692,672	3.5	1	7	dbSNP_89	65	3097,5503	658.0+/-401.5	588,1921,1791	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	,,,	1818,2729,1956	CC,CT,TT		36.0116,25.8284,48.939	,,,	564/1160,224/549,564/889,224/820	150648789	6365,6641	2203	4300	6503	SO:0001819	synonymous_variant	3757	exon7			GCAGGCTAGCCAG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1692A>G	7.37:g.150648789T>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_000238	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	CCDS5910.1																																																																																			T|0.477;C|0.523	0.523	strong		0.622	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		C	150648789	T	C	150648789	2	2	27	1	0	0	0	0	0	0	0	1	8032	1509	53	3		3	KCNH2	7	150648789	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6586157	150648789	8489874	251	21939										
GALNTL5	168391	hgsc.bcm.edu	37	chr7	151668119	151668119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcagtagaagcttgggcatcGaaagagaagtgccagatacc	12	8	1	3	rs181262306	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:151668119G>A	ENST00000392800.2	+	3	591	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E113K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	113					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.E113K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTGGGCATCGAAAGAGAAGT	0.333													G|||	7	0.00139776	0.0	0.0014	5008	,	,		16015	0.006		0.0	False		,,,				2504	0.0				p.E113K		Atlas-SNP	.											GALNTL5,scalp,carcinoma,0,2	GALNTL5	87	2	1	Substitution - Missense(1)	skin(1)	c.G337A						scavenged	.						81	83	82					7																	151668119		2203	4299	6502	SO:0001583	missense	168391	exon3			GGCATCGAAAGAG	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.337G>A	7.37:g.151668119G>A	ENSP00000376548:p.Glu113Lys	Somatic	261	2	0.00766284		WXS	Illumina HiSeq	Phase_I	291	4	0.0137457	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	4	0.006993006993006993	0	0.0	G	11.48	1.650940	0.29336	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58940	0.3;0.3	4.94	-9.88	0.00467	.	1.940980	0.02254	N	0.066866	T	0.35128	0.0921	L	0.42245	1.32	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.31447	-0.9943	10	0.66056	D	0.02	.	6.3267	0.21246	0.2813:0.513:0.113:0.0926	.	113	Q7Z4T8	GLTL5_HUMAN	K	113	ENSP00000392582:E113K;ENSP00000376548:E113K	ENSP00000376548:E113K	E	+	1	0	GALNTL5	151299052	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.547000	0.02186	-2.404000	0.00576	-0.882000	0.02950	GAA	G|0.998;A|0.002	0.002	strong		0.333	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		A	151668119	G	A	151668119	3	1	27	1	0	0	0	0	1	0	0	0	6224	1059	37	1	343	1	GALNTL5	7	151668119	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1019330	151668119	7470544	252	21940										
DPP6	1804	hgsc.bcm.edu	37	chr7	154681050	154681050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgatcattcatcccactgcCgatggtaaggactgaaaaca	8	11	2	2	rs1129300	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:154681050C>T	ENST00000377770.3	+	24	2514	c.2373C>T	c.(2371-2373)gcC>gcT	p.A791A	DPP6_ENST00000427557.1_Silent_p.A684A|DPP6_ENST00000332007.3_Silent_p.A729A|DPP6_ENST00000404039.1_Silent_p.A727A			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	791					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A727A(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCCCACTGCCGATGGTAAGG	0.483													C|||	808	0.161342	0.0053	0.0922	5008	,	,		19575	0.4673		0.1074	False		,,,				2504	0.1616				p.A791A	NSCLC(125;1384 1783 2490 7422 34254)	Atlas-SNP	.											DPP6,NS,carcinoma,0,1	DPP6	383	1	1	Substitution - coding silent(1)	stomach(1)	c.C2373T						scavenged	.	C	,,	106,3898		0,106,1896	53	54	54		1827,1746,1746	-9	0	7	dbSNP_86	54	965,7381		50,865,3258	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	50,971,5154	TT,TC,CC		11.5624,2.6474,8.6721	,,	609/684,582/657,582/657	154681050	1071,11279	2002	4173	6175	SO:0001819	synonymous_variant	1804	exon24			CACTGCCGATGGT	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2373C>T	7.37:g.154681050C>T		Somatic	121	1	0.00826446		WXS	Illumina HiSeq	Phase_I	70	5	0.0714286	NM_130797		Silent	SNP	ENST00000377770.3	37																																																																																				C|0.837;G|0.000;T|0.163	0.163	strong		0.483	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		T	154681050	C	T	154681050	2	4	27	1	0	0	0	0	0	0	0	1	4730	639	23	1		1	DPP6	7	154681050	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3012931	154681050	4457613	253	21941										
WDR60	55112	hgsc.bcm.edu	37	chr7	158672619	158672619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttgatgatgagaggcaccAaagcaacgtggatagaaaag	12	5	0	4	rs2788478	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr7:158672619A>G	ENST00000407559.3	+	5	976	c.818A>G	c.(817-819)cAa>cGa	p.Q273R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	273			Q -> R (in dbSNP:rs2788478).		cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGAGGCACCAAAGCAACGTG	0.438													G|||	2873	0.573682	0.7368	0.4294	5008	,	,		19248	0.7212		0.3837	False		,,,				2504	0.499				p.Q273R		Atlas-SNP	.											.	WDR60	94	.	0			c.A818G						PASS	.		ARG/GLN	2463,1307		809,845,231	73	77	76		818	0.8	0	7	dbSNP_100	76	3004,5188		552,1900,1644	yes	missense	WDR60	NM_018051.4	43	1361,2745,1875	GG,GA,AA		36.6699,34.6684,45.7031	benign	273/1067	158672619	5467,6495	1885	4096	5981	SO:0001583	missense	55112	exon5			GGCACCAAAGCAA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.818A>G	7.37:g.158672619A>G	ENSP00000384290:p.Gln273Arg	Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	252	14	0.0555556	NM_018051	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	1191	0.5453296703296703	354	0.7195121951219512	155	0.4281767955801105	394	0.6888111888111889	288	0.37994722955145116	G	0.033	-1.322301	0.01320	0.653316	0.366699	ENSG00000126870	ENST00000407559	T	0.18016	2.24	4.73	0.795	0.18643	.	0.669254	0.12904	N	0.429496	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	9	0.02654	T	1	0.3405	5.0153	0.14333	0.3597:0.1489:0.4914:0.0	rs2788478;rs9654723;rs10349453;rs52836646;rs56855193;rs2788478	273	Q8WVS4	WDR60_HUMAN	R	273	ENSP00000384290:Q273R	ENSP00000384290:Q273R	Q	+	2	0	WDR60	158365380	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	0.042000	0.13949	-0.043000	0.13513	-0.726000	0.03593	CAA	A|0.435;G|0.565	0.565	strong		0.438	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		G	158672619	A	G	158672619	3	3	27	1	0	0	0	0	1	0	0	0	17308	130	5	2	836	2	WDR60	7	158672619	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3991569	158672619	466044	254	21942										
ASAH1	427	hgsc.bcm.edu	37	chr8	17942220	17942220	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagctgccaaatcccagaaTtgaggcctcggtgaaaagcg	11	10	0	3	rs3213606	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:17942220T>C	ENST00000262097.6	-	0	0				CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000381733.4_Missense_Mutation_p.I31V|ASAH1_ENST00000314146.10_Missense_Mutation_p.I31V|ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000521775.1_RNA|ASAH1_ENST00000417108.2_5'Flank|CTD-2547L16.1_ENST00000499554.2_RNA|ASAH1_ENST00000520781.1_5'Flank	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)	p.I31V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AATCCCAGAATTGAGGCCTCG	0.577											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	22	0.00439297	0.0	0.0	5008	,	,		16739	0.0218		0.0	False		,,,				2504	0.0				p.I31V		Atlas-SNP	.											ASAH1_ENST00000381733,NS,carcinoma,0,1	ASAH1	71	1	1	Substitution - Missense(1)	stomach(1)	c.A91G						PASS	.	T	VAL/ILE,VAL/ILE	1,4405		0,1,2202	49	50	50		91,91	-3.6	0	8	dbSNP_106	50	4,8596		0,4,4296	yes	missense,missense	ASAH1	NM_001127505.1,NM_004315.4	29,29	0,5,6498	CC,CT,TT		0.0465,0.0227,0.0384	,	31/390,31/412	17942220	5,13001	2203	4300	6503	SO:0001631	upstream_gene_variant	427	exon1			CCAGAATTGAGGC	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		8.37:g.17942220T>C	Exception_encountered	Somatic	79	0	0	721	WXS	Illumina HiSeq	Phase_I	83	4	0.0481928	NM_001127505	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	16	0.007326007326007326	0	0.0	0	0.0	16	0.027972027972027972	0	0.0	.	7.180	0.589465	0.13812	2.27E-4	4.65E-4	ENSG00000104763	ENST00000381733;ENST00000314146	T;T	0.70282	-0.35;-0.47	3.05	-3.58	0.04597	.	7739.210000	0.00166	N	0.000001	T	0.22704	0.0548	N	0.08118	0	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34700	-0.9818	10	0.09590	T	0.72	-1.6773	8.0324	0.30472	0.0:0.5287:0.0:0.4713	rs3213606;rs17636247;rs52812973;rs3213606	31;31	E9PDS0;Q13510-2	.;.	V	31	ENSP00000371152:I31V;ENSP00000326970:I31V	ENSP00000326970:I31V	I	-	1	0	ASAH1	17986500	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.724000	0.04947	-0.659000	0.05359	-0.313000	0.08912	ATT	T|0.991;C|0.009	0.009	strong		0.577	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		C	17942220	T	C	17942220	1	2	27	0	1	0	0	0	0	0	0	0	1006	1493	52	2		2	ASAH1	8	17942220	5'Flank	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10		17942220	128421802	255	21943										
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22974315	22974315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agctgctgaagagacaatgaAcaccagcccggggactcctg	12	12	0	3	rs61736405		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:22974315A>C	ENST00000356864.3	+	5	1083	c.551A>C	c.(550-552)aAc>aCc	p.N184T	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.N82T	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	184					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.N184T(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGACAATGAACACCAGCCCG	0.602																																					p.N184T		Atlas-SNP	.											TNFRSF10C,trunk,malignant_melanoma,0,1	TNFRSF10C	30	1	1	Substitution - Missense(1)	skin(1)	c.A551C						scavenged	.						68	80	76					8																	22974315		2203	4297	6500	SO:0001583	missense	8794	exon5			CAATGAACACCAG	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.551A>C	8.37:g.22974315A>C	ENSP00000349324:p.Asn184Thr	Somatic	128	8	0.0625		WXS	Illumina HiSeq	Phase_I	107	11	0.102804	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	A	1.881	-0.457883	0.04508	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.62788	0.0;1.25	.	.	.	.	0.568776	0.17737	U	0.163718	T	0.28400	0.0702	N	0.03608	-0.345	0.22213	N	0.999289	P	0.38110	0.618	B	0.33690	0.168	T	0.14924	-1.0455	9	0.37606	T	0.19	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	rs61736405	184	O14798	TR10C_HUMAN	T	184;82;184	ENSP00000349324:N184T;ENSP00000437612:N82T	ENSP00000349324:N184T	N	+	2	0	TNFRSF10C	23030260	0.001000	0.12720	0.054000	0.19295	0.104000	0.19210	0.918000	0.28678	0.077000	0.16863	0.076000	0.15429	AAC	A|0.013;C|0.987	0.987	weak		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			C	22974315	A	C	22974315	3	2	27	1	0	0	0	0	1	0	0	0	16279	43	2	5	569	5	TNFRSF10C	8	22974315	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5032095	22974315	123389707	256	21944										
ADAM28	10863	hgsc.bcm.edu	37	chr8	24171051	24171051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatggtgtgttgtgggcccaCgatttgcagcagaacattgc	14	8	0	1	rs6996616	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:24171051C>T	ENST00000265769.4	+	6	644	c.534C>T	c.(532-534)caC>caT	p.H178H	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.H178H|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	178					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTGGGCCCACGATTTGCAGC	0.448													T|||	932	0.186102	0.152	0.0965	5008	,	,		16774	0.3621		0.1571	False		,,,				2504	0.1442				p.H178H	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.C534T						PASS	.	T	,	754,3652	755.8+/-412.6	65,624,1514	208	181	190		534,534	0	0	8	dbSNP_116	190	1315,7285	758.0+/-407.5	104,1107,3089	no	coding-synonymous,coding-synonymous	ADAM28	NM_014265.4,NM_021777.3	,	169,1731,4603	TT,TC,CC		15.2907,17.113,15.908	,	178/776,178/541	24171051	2069,10937	2203	4300	6503	SO:0001819	synonymous_variant	10863	exon6			GGCCCACGATTTG	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.534C>T	8.37:g.24171051C>T		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	182	8	0.043956	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																			C|0.809;T|0.191	0.191	strong		0.448	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24171051	C	T	24171051	2	4	27	1	0	0	0	0	0	0	0	1	246	535	19	1		1	ADAM28	8	24171051	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1196736	24171051	122192971	257	21945										
DOCK5	80005	hgsc.bcm.edu	37	chr8	25222165	25222165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttctccgtgctataaatcAgtttgctgaagttctcacaa	6	9	3	1	rs2271111	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:25222165A>G	ENST00000276440.7	+	30	3112	c.3068A>G	c.(3067-3069)cAg>cGg	p.Q1023R		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1023			Q -> R (in dbSNP:rs2271111).		positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q1023R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTATAAATCAGTTTGCTGAA	0.418													A|||	1230	0.245607	0.0711	0.304	5008	,	,		18344	0.3562		0.3698	False		,,,				2504	0.1984				p.Q1023R	Pancreas(145;34 1887 3271 10937 30165)	Atlas-SNP	.											DOCK5,NS,carcinoma,0,1	DOCK5	167	1	1	Substitution - Missense(1)	stomach(1)	c.A3068G						scavenged	.	A	ARG/GLN	487,3919	213.8+/-233.3	26,435,1742	137	117	124		3068	4.3	1	8	dbSNP_100	124	2886,5714	414.1+/-351.3	498,1890,1912	yes	missense	DOCK5	NM_024940.6	43	524,2325,3654	GG,GA,AA		33.5581,11.0531,25.9342	benign	1023/1871	25222165	3373,9633	2203	4300	6503	SO:0001583	missense	80005	exon30			TAAATCAGTTTGC		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3068A>G	8.37:g.25222165A>G	ENSP00000276440:p.Gln1023Arg	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	187	6	0.0320856	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	634	0.2902930402930403	37	0.07520325203252033	120	0.3314917127071823	189	0.3304195804195804	288	0.37994722955145116	A	10.21	1.287145	0.23478	0.110531	0.335581	ENSG00000147459	ENST00000276440	T	0.23950	1.88	5.62	4.34	0.51931	.	0.058883	0.64402	D	0.000001	T	0.00012	0.0000	L	0.41710	1.295	0.23920	P	0.99646016	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.41858	-0.9485	9	0.08837	T	0.75	.	7.572	0.27913	0.7907:0.0:0.073:0.1362	rs2271111;rs52835832;rs58353884;rs2271111	1013;1023	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	R	1023	ENSP00000276440:Q1023R	ENSP00000276440:Q1023R	Q	+	2	0	DOCK5	25278082	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.300000	0.59079	2.142000	0.66516	0.528000	0.53228	CAG	A|0.749;G|0.251	0.251	strong		0.418	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		G	25222165	A	G	25222165	3	3	27	1	0	0	0	0	1	0	0	0	4690	188	7	3	3186	3	DOCK5	8	25222165	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1051114	25222165	121141857	258	21946										
FUT10	84750	hgsc.bcm.edu	37	chr8	33246538	33246538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cacaccatacactcaaatgcAtcgatgtaattgtcctggtt	6	11	1	0	rs16880849	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:33246538A>G	ENST00000327671.5	-	4	1786	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.D357D|FUT10_ENST00000524021.1_Silent_p.D357D|FUT10_ENST00000335589.3_Silent_p.D323D	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	385					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.D385D(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ACTCAAATGCATCGATGTAAT	0.498													A|||	1496	0.298722	0.1808	0.17	5008	,	,		22022	0.4692		0.1938	False		,,,				2504	0.4816				p.D385D		Atlas-SNP	.											FUT10,NS,carcinoma,0,1	FUT10	62	1	1	Substitution - coding silent(1)	stomach(1)	c.T1155C						scavenged	.	A		916,3490	349.5+/-310.4	76,764,1363	246	207	220		1155	-0.1	0.9	8	dbSNP_123	220	1748,6852	317.0+/-313.0	177,1394,2729	no	coding-synonymous	FUT10	NM_032664.3		253,2158,4092	GG,GA,AA		20.3256,20.7898,20.4829		385/480	33246538	2664,10342	2203	4300	6503	SO:0001819	synonymous_variant	84750	exon4			AAATGCATCGATG	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1155T>C	8.37:g.33246538A>G		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1																																																																																			A|0.769;G|0.231	0.231	strong		0.498	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		G	33246538	A	G	33246538	2	3	27	1	0	0	0	0	0	0	0	1	6102	214	8	2		2	FUT10	8	33246538	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	8024373	33246538	113117484	259	21947										
IKBKB	3551	hgsc.bcm.edu	37	chr8	42176069	42176069	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgcttgtgtctctgtctccaGttcaagagcccaagaggaat	10	10	3	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:42176069G>T	ENST00000520810.1	+	13	1426		c.e13-1		IKBKB_ENST00000379708.3_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCTGTCTCCAGTTCAAGAGCC	0.493																																					.		Atlas-SNP	.											.	IKBKB	88	.	0			c.1064-1G>T						PASS	.						89	86	87					8																	42176069		2203	4300	6503	SO:0001630	splice_region_variant	3551	exon12			TCTCCAGTTCAAG	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1241-1G>T	8.37:g.42176069G>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	132	39	0.295455	NM_001242778	B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124132	0.77436	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6681	0.95900	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42295226	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	7.789000	0.85783	2.740000	0.93945	0.555000	0.69702	.	.	.	none		0.493	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	T	42176069	G	T	42176069	5	4	27	1	0	0	0	0	0	0	1	0	7611	1043	36	4	1286	4	IKBKB	8	42176069	Splice_Site	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	8929531	42176069	104187953	260	21948										
PMP2	5375	hgsc.bcm.edu	37	chr8	82357112	82357112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggcctagcttgaaggagatTtctgtatttttaaaggtact	10	5	1	2	rs2229015	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:82357112T>C	ENST00000256103.2	-	2	322	c.186A>G	c.(184-186)gaA>gaG	p.E62E	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	62					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGAAGGAGATTTCTGTATTTT	0.398													C|||	1760	0.351438	0.357	0.3285	5008	,	,		19779	0.748		0.1412	False		,,,				2504	0.1677				p.E62E		Atlas-SNP	.											.	PMP2	21	.	0			c.A186G						PASS	.	C		1469,2937	678.9+/-403.6	258,953,992	142	140	141		186	4.6	1	8	dbSNP_98	141	1449,7151	750.6+/-407.4	131,1187,2982	no	coding-synonymous	PMP2	NM_002677.3		389,2140,3974	CC,CT,TT		16.8488,33.3409,22.4358		62/133	82357112	2918,10088	2203	4300	6503	SO:0001819	synonymous_variant	5375	exon2			GGAGATTTCTGTA	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.186A>G	8.37:g.82357112T>C		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	110	8	0.0727273	NM_002677	Q6FHL4	Silent	SNP	ENST00000256103.2	37	CCDS6229.1																																																																																			T|0.706;C|0.294	0.294	strong		0.398	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		C	82357112	T	C	82357112	2	2	27	1	0	0	0	0	0	0	0	1	12138	1838	64	2		2	PMP2	8	82357112	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	40181043	82357112	64006910	261	21949										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87229739	87229739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgggttcctggtatctccgcCttagtattcctatcattaat	7	10	2	0	rs4419794	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:87229739C>T	ENST00000297524.3	-	3	1242	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R371K|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	380			R -> K (in dbSNP:rs4419794).			integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATCTCCGCCTTAGTATTCC	0.299													C|||	973	0.194289	0.0401	0.1945	5008	,	,		17064	0.3383		0.1372	False		,,,				2504	0.3129				p.R380K		Atlas-SNP	.											SLC7A13,NS,carcinoma,+1,1	SLC7A13	97	1	0			c.G1139A						scavenged	.	C	LYS/ARG	248,4140		9,230,1955	29	34	32		1139	-0.8	0	8	dbSNP_111	32	1088,7496		80,928,3284	yes	missense	SLC7A13	NM_138817.2	26	89,1158,5239	TT,TC,CC		12.6747,5.6518,10.2991	benign	380/471	87229739	1336,11636	2194	4292	6486	SO:0001583	missense	157724	exon3			CTCCGCCTTAGTA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1139G>A	8.37:g.87229739C>T	ENSP00000297524:p.Arg380Lys	Somatic	322	1	0.00310559		WXS	Illumina HiSeq	Phase_I	332	12	0.0361446	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	368	0.1684981684981685	18	0.036585365853658534	56	0.15469613259668508	193	0.3374125874125874	101	0.13324538258575197	C	0.005	-2.129682	0.00338	0.056518	0.126747	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.88818	-2.43;-2.43	5.03	-0.761	0.11038	.	0.592368	0.15885	N	0.239861	T	0.00012	0.0000	N	0.00230	-1.795	0.80722	P	0.0	B;B	0.10296	0.003;0.0	B;B	0.01281	0.0;0.0	T	0.38478	-0.9659	9	0.27082	T	0.32	.	3.1871	0.06604	0.246:0.2762:0.0:0.4778	rs4419794;rs60737499;rs4419794	371;380	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	K	380;371	ENSP00000297524:R380K;ENSP00000410982:R371K	ENSP00000297524:R380K	R	-	2	0	SLC7A13	87298855	0.931000	0.31567	0.005000	0.12908	0.003000	0.03518	0.841000	0.27613	0.109000	0.17891	-1.124000	0.02001	AGG	C|0.856;T|0.144	0.144	strong		0.299	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		T	87229739	C	T	87229739	3	4	27	1	0	0	0	0	1	0	0	0	14695	681	24	2	281	2	SLC7A13	8	87229739	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4872627	87229739	59134283	262	21950										
NBN	4683	hgsc.bcm.edu	37	chr8	90958422	90958422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	taatcatcatttatgccagaTggatttctggaagtagagtt	9	5	3	2	rs1061302	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:90958422T>C	ENST00000265433.3	-	13	2170	c.2016A>G	c.(2014-2016)ccA>ccG	p.P672P	NBN_ENST00000409330.1_Silent_p.P590P	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	672					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)			TTATGCCAGATGGATTTCTGG	0.323								Homologous recombination					T|||	1767	0.352835	0.2156	0.3761	5008	,	,		16654	0.4673		0.3062	False		,,,				2504	0.4519				p.P672P		Atlas-SNP	.											.	NBN	86	.	0			c.A2016G						PASS	.	T		1003,3403	371.2+/-319.9	121,761,1321	107	108	108		2016	-7.3	0	8	dbSNP_86	108	2692,5904	430.6+/-356.6	410,1872,2016	no	coding-synonymous	NBN	NM_002485.4		531,2633,3337	CC,CT,TT		31.3169,22.7644,28.4187		672/755	90958422	3695,9307	2203	4298	6501	SO:0001819	synonymous_variant	4683	exon13			GCCAGATGGATTT	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.2016A>G	8.37:g.90958422T>C		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	115	8	0.0695652	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	CCDS6249.1																																																																																			T|0.690;C|0.310	0.310	strong		0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		C	90958422	T	C	90958422	2	2	27	1	0	0	0	0	0	0	0	1	10191	1451	51	2		2	NBN	8	90958422	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3728683	90958422	55405600	263	21951										
NBN	4683	hgsc.bcm.edu	37	chr8	90990479	90990479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggaggctgcttcttggactCaactgctttcaggaattcag	11	9	4	0	rs1805794	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:90990479C>G	ENST00000265433.3	-	5	707	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	NBN_ENST00000409330.1_Missense_Mutation_p.E103Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	185	Mediates interaction with SP100. {ECO:0000250}.		E -> Q (in dbSNP:rs1805794). {ECO:0000269|PubMed:14684699, ECO:0000269|PubMed:14688016, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9590180, ECO:0000269|PubMed:9590181, ECO:0000269|Ref.7}.		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)			TTCTTGGACTCAACTGCTTTC	0.299								Homologous recombination					G|||	1788	0.357029	0.2307	0.3761	5008	,	,		16191	0.4673		0.3062	False		,,,				2504	0.453				p.E185Q		Atlas-SNP	.											.	NBN	86	.	0			c.G553C	GRCh37	CM034886	NBN	M	rs1805794	PASS	.	G	GLN/GLU	1030,3376	725.4+/-409.6	125,780,1298	87	86	87		553	3.1	1	8	dbSNP_92	87	2697,5903	682.4+/-403.8	413,1871,2016	yes	missense	NBN	NM_002485.4	29	538,2651,3314	GG,GC,CC		31.3605,23.3772,28.656	benign	185/755	90990479	3727,9279	2203	4300	6503	SO:0001583	missense	4683	exon5			TGGACTCAACTGC	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.553G>C	8.37:g.90990479C>G	ENSP00000265433:p.Glu185Gln	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	219	9	0.0410959	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	726	0.3324175824175824	110	0.22357723577235772	122	0.3370165745856354	261	0.4562937062937063	233	0.3073878627968338	G	3.805	-0.040880	0.07452	0.233772	0.313605	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772	T;T;T	0.71222	0.43;0.51;-0.55	5.96	3.08	0.35506	.	0.222293	0.47093	N	0.000243	T	0.00012	0.0000	N	0.01454	-0.855	0.53688	P	2.8000000000028002E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.39623	-0.9605	9	0.02654	T	1	-2.2013	13.9393	0.64046	0.0:0.4497:0.4384:0.1119	rs1805794;rs3174084;rs1805794	185	O60934	NBN_HUMAN	Q	185;103;185;103	ENSP00000265433:E185Q;ENSP00000386924:E103Q;ENSP00000428717:E103Q	ENSP00000265433:E185Q	E	-	1	0	NBN	91059655	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.133000	0.42093	0.091000	0.17302	-0.120000	0.15030	GAG	C|0.681;G|0.319	0.319	strong		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		G	90990479	C	G	90990479	3	3	27	1	0	0	0	0	1	0	0	0	10191	835	29	4	1759	4	NBN	8	90990479	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	32057	90990479	55373543	264	21952										
ESRP1	54845	hgsc.bcm.edu	37	chr8	95680229	95680229	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaggaaaatcaagtcattgtCcgcatgcgggggctcccttt	11	10	2	0	rs1549466	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:95680229C>T	ENST00000433389.2	+	10	1174	c.984C>T	c.(982-984)gtC>gtT	p.V328V	ESRP1_ENST00000423620.2_Silent_p.V328V|ESRP1_ENST00000454170.2_Silent_p.V328V|ESRP1_ENST00000358397.5_Silent_p.V328V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	328	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGTCATTGTCCGCATGCGGG	0.483													C|||	1765	0.352436	0.0514	0.3804	5008	,	,		19140	0.5387		0.3897	False		,,,				2504	0.5092				p.V328V		Atlas-SNP	.											ESRP1_ENST00000433389,NS,carcinoma,+2,2	ESRP1	148	2	0			c.C984T						scavenged	.	C	,,,,	393,3341		21,351,1495	61	60	60		984,984,984,984,984	-0.6	1	8	dbSNP_88	60	3101,5085		579,1943,1571	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRP1	NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3	,,,,	600,2294,3066	TT,TC,CC		37.8817,10.5249,29.3121	,,,,	328/678,328/609,328/660,328/605,328/682	95680229	3494,8426	1867	4093	5960	SO:0001819	synonymous_variant	54845	exon10			CATTGTCCGCATG	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.984C>T	8.37:g.95680229C>T		Somatic	120	1	0.00833333		WXS	Illumina HiSeq	Phase_I	138	4	0.0289855	NM_001122827	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	CCDS47897.1	780	0.35714285714285715	28	0.056910569105691054	135	0.3729281767955801	307	0.5367132867132867	310	0.40897097625329815	C	9.611	1.131193	0.21041	0.105249	0.378817	ENSG00000104413	ENST00000519505	.	.	.	5.78	-0.637	0.11504	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.47761	-0.9092	3	.	.	.	-9.6706	9.8714	0.41177	0.0:0.28:0.5332:0.1868	rs1549466;rs17717111;rs1549466	.	.	.	S	194	.	.	P	+	1	0	ESRP1	95749405	0.112000	0.22096	0.981000	0.43875	0.994000	0.84299	-0.523000	0.06230	-0.440000	0.07211	-0.302000	0.09304	CCG	C|0.648;T|0.352	0.352	strong		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		T	95680229	C	T	95680229	2	4	27	1	0	0	0	0	0	0	0	1	5258	842	30	2		2	ESRP1	8	95680229	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4689750	95680229	50683793	265	21953										
RGS22	26166	hgsc.bcm.edu	37	chr8	101011612	101011612	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggtgcatcaagctgctcatGaagaatcttcccccagccac	8	14	3	2	rs3133711	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:101011612G>A	ENST00000360863.6	-	19	3021	c.2827C>T	c.(2827-2829)Cat>Tat	p.H943Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H931Y|RGS22_ENST00000519421.1_5'Flank|RGS22_ENST00000523287.1_Missense_Mutation_p.H762Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	943	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.		H -> Y (in dbSNP:rs3133711).		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)			AGCTGCTCATGAAGAATCTTC	0.373													G|||	183	0.0365415	0.0129	0.0432	5008	,	,		18591	0.1042		0.0	False		,,,				2504	0.0317				p.H943Y		Atlas-SNP	.											.	RGS22	319	.	0			c.C2827T						PASS	.	G	TYR/HIS	33,3679		0,33,1823	98	90	92		2827	4.7	1	8	dbSNP_103	92	3,8235		0,3,4116	yes	missense	RGS22	NM_015668.3	83	0,36,5939	AA,AG,GG		0.0364,0.889,0.3013	possibly-damaging	943/1265	101011612	36,11914	1856	4119	5975	SO:0001583	missense	26166	exon19			GCTCATGAAGAAT	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.2827C>T	8.37:g.101011612G>A	ENSP00000354109:p.His943Tyr	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	85	0.03891941391941392	6	0.012195121951219513	10	0.027624309392265192	69	0.12062937062937062	0	0.0	G	21.4	4.139548	0.77775	0.00889	3.64E-4	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.47869	1.92;1.92;1.92;0.83	4.72	4.72	0.59763	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.079005	0.52532	D	0.000062	T	0.02119	0.0066	M	0.68317	2.08	0.36094	D	0.843658	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.79784	0.993;0.993;0.957	T	0.48525	-0.9028	10	0.66056	D	0.02	.	17.6791	0.88238	0.0:0.0:1.0:0.0	rs3133711;rs3133711	931;943;762	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Y	943;930;762;931;258	ENSP00000354109:H943Y;ENSP00000429382:H762Y;ENSP00000428212:H931Y;ENSP00000427754:H258Y	ENSP00000354109:H943Y	H	-	1	0	RGS22	101080788	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.126000	0.77201	2.147000	0.66899	0.655000	0.94253	CAT	G|0.964;A|0.036	0.036	strong		0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	101011612	G	A	101011612	3	1	27	1	0	0	0	0	1	0	0	0	13305	1290	45	2	1003	2	RGS22	8	101011612	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5331383	101011612	45352410	266	21954										
RIMS2	9699	hgsc.bcm.edu	37	chr8	104831794	104831794	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttatctcattttcatggggTtttttcatccccaccaaata	4	10	3	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:104831794T>G	ENST00000507740.1	+	1	295	c.59T>G	c.(58-60)gTt>gGt	p.V20G	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.V20G|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S22fs*10(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCATGGGGTTTTTTCATCC	0.343										HNSCC(12;0.0054)																											p.V20G		Atlas-SNP	.											RIMS2_ENST00000507740,colon,carcinoma,+1,1	RIMS2	1357	1	1	Insertion - Frameshift(1)	large_intestine(1)	c.T59G						scavenged	.						103	102	102					8																	104831794		1813	4086	5899	SO:0001583	missense	9699	exon1			ATGGGGTTTTTTC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.59T>G	8.37:g.104831794T>G	ENSP00000423559:p.Val20Gly	Somatic	114	1	0.00877193		WXS	Illumina HiSeq	Phase_I	84	22	0.261905	NM_014677	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865849	0.51588	.	.	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.21932	1.98;2.04;2.05;1.99	5.71	5.71	0.89125	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.24701	0.055;0.055	T	0.14587	-1.0467	9	0.39692	T	0.17	.	10.3403	0.43873	0.0:0.0731:0.0:0.9269	.	20;20	Q9UQ26-1;Q9UQ26-3	.;.	G	20	ENSP00000425205:V20G;ENSP00000262231:V20G;ENSP00000423559:V20G;ENSP00000386228:V20G	ENSP00000262231:V20G	V	+	2	0	RIMS2	104900970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.646000	0.61411	2.168000	0.68352	0.477000	0.44152	GTT	.	.	none		0.343	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		G	104831794	T	G	104831794	3	3	27	1	0	0	0	0	1	0	0	0	13368	1725	60	5	771	5	RIMS2	8	104831794	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3820182	104831794	41532228	267	21955										
KIAA0196	9897	hgsc.bcm.edu	37	chr8	126069044	126069044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatgtaaacatgctttctgGgatgatctgcaaaaccttca	8	8	3	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:126069044G>A	ENST00000318410.7	-	16	2240	c.1891C>T	c.(1891-1893)Cca>Tca	p.P631S	KIAA0196_ENST00000517845.1_Missense_Mutation_p.P483S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	631					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGCTTTCTGGGATGATCTGC	0.408																																					p.P631S		Atlas-SNP	.											KIAA0196,NS,malignant_melanoma,0,1	KIAA0196	90	1	0			c.C1891T						PASS	.						156	146	149					8																	126069044		2203	4300	6503	SO:0001583	missense	9897	exon16			TTTCTGGGATGAT		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1891C>T	8.37:g.126069044G>A	ENSP00000318016:p.Pro631Ser	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	73	23	0.315068	NM_014846	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944848	0.92593	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.96300	-3.97;-3.97	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.995	D	0.99289	1.0898	10	0.87932	D	0	-11.8017	19.4322	0.94775	0.0:0.0:1.0:0.0	.	483;631	E7EQI7;Q12768	.;STRUM_HUMAN	S	631;483	ENSP00000318016:P631S;ENSP00000429676:P483S	ENSP00000318016:P631S	P	-	1	0	KIAA0196	126138226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.649000	0.89929	0.655000	0.94253	CCA	.	.	none		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		A	126069044	G	A	126069044	3	1	27	1	0	0	0	0	1	0	0	0	8161	1232	43	2	1644	2	KIAA0196	8	126069044	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	21237250	126069044	20294978	268	21956										
CYP11B2	1585	hgsc.bcm.edu	37	chr8	143994041	143994041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cacgtggtggaagttcctgcCggagcccctgatgtctagcc	13	13	1	1	rs4545	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:143994041C>T	ENST00000323110.2	-	8	1305	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	435			G -> S (in dbSNP:rs4545). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AAGTTCCTGCCGGAGCCCCTG	0.622									Familial Hyperaldosteronism type I				.|||	814	0.16254	0.0295	0.1009	5008	,	,		13703	0.496		0.0229	False		,,,				2504	0.1861				p.G435S		Atlas-SNP	.											CYP11B2,NS,carcinoma,+2,1	CYP11B2	107	1	0			c.G1303A	GRCh37	CM033362	CYP11B2	M	rs4545	scavenged	.	C	SER/GLY	113,4293		3,107,2093	72	82	79		1303	-5.9	0	8	dbSNP_52	79	178,8422		6,166,4128	no	missense	CYP11B2	NM_000498.3	56	9,273,6221	TT,TC,CC		2.0698,2.5647,2.2374	benign	435/504	143994041	291,12715	2203	4300	6503	SO:0001583	missense	1585	exon8	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	TCCTGCCGGAGCC	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1303G>A	8.37:g.143994041C>T	ENSP00000325822:p.Gly435Ser	Somatic	153	1	0.00653595		WXS	Illumina HiSeq	Phase_I	168	3	0.0178571	NM_000498	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	335	0.1533882783882784	14	0.028455284552845527	30	0.08287292817679558	276	0.4825174825174825	15	0.01978891820580475	.	8.410	0.843957	0.16963	0.025647	0.020698	ENSG00000179142	ENST00000323110	T	0.68331	-0.32	2.96	-5.92	0.02261	.	1.825320	0.02980	N	0.145573	T	0.00012	0.0000	L	0.42008	1.315	0.80722	P	0.0	B	0.24483	0.104	B	0.21708	0.036	T	0.24476	-1.0159	9	0.08837	T	0.75	.	7.4483	0.27223	0.0:0.2907:0.1428:0.5665	rs4545;rs57715984;rs4545	435	P19099	C11B2_HUMAN	S	435	ENSP00000325822:G435S	ENSP00000325822:G435S	G	-	1	0	CYP11B2	143991043	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.484000	0.06528	-2.274000	0.00680	-0.471000	0.05019	GGC	C|0.914;T|0.086	0.086	strong		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			T	143994041	C	T	143994041	3	4	27	1	0	0	0	0	1	0	0	0	4146	652	23	1	216	1	CYP11B2	8	143994041	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	17924997	143994041	2369981	269	21957										
SLC39A4	55630	hgsc.bcm.edu	37	chr8	145642002	145642002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttccacacggcccgttggCgcagtgcacacggtccgcca	11	17	0	0	rs2280838	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr8:145642002C>T	ENST00000301305.3	-	1	277	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	SLC39A4_ENST00000276833.5_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	58			A -> T (in dbSNP:rs2280838). {ECO:0000269|PubMed:12032886, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|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;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGCCCGTTGGCGCAGTGCACA	0.692													C|||	2171	0.433506	0.416	0.4236	5008	,	,		14513	0.373		0.5567	False		,,,				2504	0.3998				p.A58T		Atlas-SNP	.											.	SLC39A4	54	.	0			c.G172A						PASS	.	C	THR/ALA	1886,2490		408,1070,710	22	21	21		172	-9.4	0	8	dbSNP_100	21	4892,3694		1419,2054,820	yes	missense	SLC39A4	NM_130849.2	58	1827,3124,1530	TT,TC,CC		43.0235,43.0987,47.7087	benign	58/648	145642002	6778,6184	2188	4293	6481	SO:0001583	missense	55630	exon1			CGTTGGCGCAGTG	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.172G>A	8.37:g.145642002C>T	ENSP00000301305:p.Ala58Thr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	6	0.0681818	NM_130849	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	1051	0.48122710622710624	205	0.4166666666666667	172	0.47513812154696133	232	0.40559440559440557	442	0.58311345646438	C	15.35	2.807508	0.50421	0.430987	0.569765	ENSG00000147804	ENST00000301305;ENST00000526658	T;T	0.58652	0.32;0.38	4.71	-9.42	0.00610	.	1.979900	0.02592	N	0.100064	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	9	0.10111	T	0.7	-8.2952	5.7065	0.17911	0.1114:0.5786:0.1239:0.1861	rs2280838;rs11553157;rs17855766;rs2280838	58	Q6P5W5	S39A4_HUMAN	T	58	ENSP00000301305:A58T;ENSP00000434512:A58T	ENSP00000301305:A58T	A	-	1	0	SLC39A4	145612810	0.000000	0.05858	0.038000	0.18304	0.845000	0.48019	-2.408000	0.01042	-1.950000	0.01030	-0.683000	0.03753	GCC	C|0.520;T|0.480	0.480	strong		0.692	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			T	145642002	C	T	145642002	3	4	27	1	0	0	0	0	1	0	0	0	14620	768	27	1	1936	1	SLC39A4	8	145642002	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1647961	145642002	722020	270	21958										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117998	117998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctaggaactgctggctcgccGcctcctcctcgtcttcatct	8	17	3	0	rs66612967	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:117998G>T	ENST00000382500.2	-	1	419	c.122C>A	c.(121-123)gCg>gAg	p.A41E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41E(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTCGCCGCCTCCTCCTC	0.682													T|||	111	0.0221645	0.0749	0.013	5008	,	,		13954	0.001		0.002	False		,,,				2504	0.0				p.A41E		Atlas-SNP	.											FOXD4_ENST00000382500,NS,carcinoma,0,3	FOXD4	75	3	1	Substitution - Missense(1)	skin(1)	c.C122A						scavenged	.						38	53	48					9																	117998		2203	4298	6501	SO:0001583	missense	2298	exon1			CTCGCCGCCTCCT	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.122C>A	9.37:g.117998G>T	ENSP00000371940:p.Ala41Glu	Somatic	328	14	0.0426829		WXS	Illumina HiSeq	Phase_I	371	29	0.0781671	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	50	0.022893772893772892	43	0.08739837398373984	4	0.011049723756906077	3	0.005244755244755245	0	0.0	.	0.012	-1.673624	0.00758	.	.	ENSG00000170122	ENST00000382500	D	0.94457	-3.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.13030	0.0316	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57458	-0.7808	9	0.02654	T	1	.	4.5559	0.12136	0.0:0.0:0.3427:0.6573	.	41	Q12950	FOXD4_HUMAN	E	41	ENSP00000371940:A41E	ENSP00000371940:A41E	A	-	2	0	FOXD4	107998	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.379000	0.07437	0.095000	0.17434	-1.316000	0.01300	GCG	G|0.977;T|0.023	0.023	strong		0.682	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117998	G	T	117998	3	4	27	1	0	0	0	0	1	0	0	0	5999	1087	38	4	1201	4	FOXD4	9	117998	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		117998	141095433	271	21959										
FREM1	158326	hgsc.bcm.edu	37	chr9	14747412	14747412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcatcctccagtttcaaggaAactatcccatgatacttgag	6	11	2	2	rs4741426	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:14747412A>G	ENST00000380880.3	-	33	6642	c.5859T>C	c.(5857-5859)gtT>gtC	p.V1953V	FREM1_ENST00000380894.1_Silent_p.V489V|FREM1_ENST00000422223.2_Silent_p.V1953V|FREM1_ENST00000380881.4_Silent_p.V1954V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1953					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTCAAGGAAACTATCCCAT	0.368													A|||	688	0.13738	0.0076	0.2161	5008	,	,		17179	0.1806		0.1839	False		,,,				2504	0.1646				p.V1953V		Atlas-SNP	.											.	FREM1	261	.	0			c.T5859C						PASS	.	A	,	158,3628		3,152,1738	114	99	103		1467,5859	-0.1	0.1	9	dbSNP_111	103	1590,6650		151,1288,2681	no	coding-synonymous,coding-synonymous	FREM1	NM_001177704.1,NM_144966.5	,	154,1440,4419	GG,GA,AA		19.2961,4.1733,14.5352	,	489/716,1953/2180	14747412	1748,10278	1893	4120	6013	SO:0001819	synonymous_variant	158326	exon34			CAAGGAAACTATC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5859T>C	9.37:g.14747412A>G		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	133	7	0.0526316	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			A|0.848;G|0.152	0.152	strong		0.368	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14747412	A	G	14747412	2	3	27	1	0	0	0	0	0	0	0	1	6044	1	1	2		2	FREM1	9	14747412	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	14629414	14747412	126466019	272	21960										
IFNA21	3452	hgsc.bcm.edu	37	chr9	21166246	21166246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accccaacctcctgtatcacGcaggcttccaggtcattcag	7	16	3	0	rs139462830		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:21166246G>A	ENST00000380225.1	-	1	413	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	122					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTGTATCACGCAGGCTTCCA	0.468																																					p.C122C		Atlas-SNP	.											IFNA21,colon,carcinoma,0,1	IFNA21	25	1	0			c.C366T						scavenged	.	G		2,4404		0,2,2201	169	175	173		366	-1.1	0	9	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous	IFNA21	NM_002175.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		122/190	21166246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3452	exon1			TATCACGCAGGCT		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.366C>T	9.37:g.21166246G>A		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	241	4	0.0165975	NM_002175	Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	ENST00000380225.1	37	CCDS6497.1																																																																																			G|1.000;A|0.000	0.000	weak		0.468	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		A	21166246	G	A	21166246	2	1	27	1	0	0	0	0	0	0	0	1	7538	1079	38	1		1	IFNA21	9	21166246	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6418834	21166246	120047185	273	21961										
TAF1L	138474	hgsc.bcm.edu	37	chr9	32631369	32631369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gactccaggatggatgacagCgtcaccatagggtctgtgcg	14	10	2	1	rs10971047	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:32631369C>T	ENST00000242310.4	-	1	4298	c.4209G>A	c.(4207-4209)acG>acA	p.T1403T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1403					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGATGACAGCGTCACCATAG	0.458													C|||	809	0.161542	0.1097	0.1182	5008	,	,		21985	0.3095		0.1034	False		,,,				2504	0.1697				p.T1403T		Atlas-SNP	.											TAF1L,NS,carcinoma,-1,1	TAF1L	382	1	0			c.G4209A						scavenged	.	C		374,4032	188.5+/-214.9	13,348,1842	297	272	280		4209	-0.9	0.9	9	dbSNP_120	280	893,7707	201.1+/-244.7	44,805,3451	no	coding-synonymous	TAF1L	NM_153809.2		57,1153,5293	TT,TC,CC		10.3837,8.4884,9.7417		1403/1827	32631369	1267,11739	2203	4300	6503	SO:0001819	synonymous_variant	138474	exon1			TGACAGCGTCACC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4209G>A	9.37:g.32631369C>T		Somatic	241	2	0.00829876		WXS	Illumina HiSeq	Phase_I	229	11	0.0480349	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																			C|0.873;T|0.127	0.127	strong		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32631369	C	T	32631369	2	4	27	1	0	0	0	0	0	0	0	1	15520	755	27	1		1	TAF1L	9	32631369	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11465123	32631369	108582062	274	21962										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797828	33797828	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgcctgccctgcccatcagcCgcatccaggtgagactggga	12	15	1	1	rs143209949		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:33797828C>T	ENST00000361005.5	+	3	373	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PRSS3_ENST00000379405.3_Splice_Site_p.R68C|PRSS3_ENST00000429677.3_Splice_Site_p.R61C|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site_p.R82C	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCCATCAGCCGCATCCAGGT	0.577													c|||	1	0.000199681	0.0	0.0	5008	,	,		21123	0.0		0.001	False		,,,				2504	0.0				p.R125C		Atlas-SNP	.											PRSS3_ENST00000361005,NS,carcinoma,-1,2	PRSS3	79	2	0			c.C373T						scavenged	.						106	97	100					9																	33797828		2203	4300	6503	SO:0001630	splice_region_variant	5646	exon3			ATCAGCCGCATCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.372-1C>T	9.37:g.33797828C>T		Somatic	82	2	0.0243902		WXS	Illumina HiSeq	Phase_I	73	5	0.0684932	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045597	0.36085	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	3.38	2.48	0.30137	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	D	0.000021	D	0.89729	0.6799	L	0.55213	1.73	0.51233	D	0.999918	D;D;D	0.76494	0.986;0.999;0.986	P;P;P	0.62885	0.765;0.908;0.701	D	0.87067	0.2157	10	0.66056	D	0.02	.	4.6046	0.12371	0.214:0.6633:0.0:0.1227	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	C	125;80;82;61;68	ENSP00000354280:R125C;ENSP00000401249:R80C;ENSP00000340889:R82C;ENSP00000401828:R61C;ENSP00000368715:R68C	ENSP00000340889:R82C	R	+	1	0	PRSS3	33787828	0.896000	0.30565	0.865000	0.33974	0.073000	0.16967	1.513000	0.35823	0.551000	0.29008	-0.643000	0.03959	CGC	C|0.999;T|0.001	0.001	strong		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Missense_Mutation	T	33797828	C	T	33797828	5	4	27	1	0	0	0	0	0	0	1	0	12622	666	23	1	427	1	PRSS3	9	33797828	Splice_Site	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1166459	33797828	107415603	275	21963										
UBAP2	55833	hgsc.bcm.edu	37	chr9	33941759	33941759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgctactggactagcagaaTtcagtgatgagcttgtcaga	11	7	2	4	rs307658	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:33941759T>C	ENST00000379238.1	-	16	1934	c.1817A>G	c.(1816-1818)aAt>aGt	p.N606S	UBAP2_ENST00000379225.1_Missense_Mutation_p.N239S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N361S|UBAP2_ENST00000379239.4_Missense_Mutation_p.N339S|UBAP2_ENST00000449054.1_Missense_Mutation_p.N606S|UBAP2_ENST00000418786.2_Missense_Mutation_p.N553S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N606S					ubiquitin associated protein 2									p.N606S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTAGCAGAATTCAGTGATGA	0.448													C|||	1857	0.370807	0.5083	0.268	5008	,	,		18167	0.1726		0.3837	False		,,,				2504	0.4489				p.N606S		Atlas-SNP	.											UBAP2,NS,carcinoma,0,1	UBAP2	82	1	1	Substitution - Missense(1)	stomach(1)	c.A1817G						scavenged	.	C	SER/ASN	2060,2346	607.3+/-390.9	478,1104,621	174	159	164		1817	5.8	1	9	dbSNP_79	164	3291,5309	646.8+/-400.3	648,1995,1657	yes	missense	UBAP2	NM_018449.2	46	1126,3099,2278	CC,CT,TT		38.2674,46.7544,41.1425	benign	606/1120	33941759	5351,7655	2203	4300	6503	SO:0001583	missense	55833	exon16			GCAGAATTCAGTG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1817A>G	9.37:g.33941759T>C	ENSP00000368540:p.Asn606Ser	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	107	4	0.0373832	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	778	0.35622710622710624	248	0.5040650406504065	106	0.292817679558011	114	0.1993006993006993	310	0.40897097625329815	C	1.094	-0.663234	0.03428	0.467544	0.382674	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.79;2.79;2.79;2.58;2.59;2.28;2.05	5.76	5.76	0.90799	.	0.521330	0.23587	N	0.046596	T	0.00012	0.0000	N	0.01015	-1.05	0.58432	P	4.000000000004E-6	B;B;B;B;B;B;B;B	0.17038	0.0;0.006;0.0;0.0;0.0;0.001;0.003;0.02	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.002	T	0.41124	-0.9526	9	0.02654	T	1	-4.2248	12.9291	0.58276	0.0:0.866:0.0:0.134	rs307658;rs601694;rs1626808;rs52833981;rs60695207;rs307658	553;531;361;339;515;239;531;606	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	S	606;606;606;515;339;361;553;239	ENSP00000368540:N606S;ENSP00000416932:N606S;ENSP00000354039:N606S;ENSP00000368541:N339S;ENSP00000439329:N361S;ENSP00000404436:N553S;ENSP00000368527:N239S	ENSP00000354039:N606S	N	-	2	0	UBAP2	33931759	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.117000	0.41939	1.449000	0.47699	-0.119000	0.15052	AAT	T|0.617;C|0.383	0.383	strong		0.448	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		C	33941759	T	C	33941759	3	2	27	1	0	0	0	0	1	0	0	0	16834	1493	52	2	1598	2	UBAP2	9	33941759	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	143931	33941759	107271672	276	21964										
FAM75A6	389730	hgsc.bcm.edu	37	chr9	43628679	43628679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagtctcctccaggcctctcGggcactctctaccagctgga	9	16	3	0	rs2491538	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:43628679G>A	ENST00000332857.6	-	3	291	c.263C>T	c.(262-264)cCg>cTg	p.P88L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	88					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGCCTCTCGGGCACTCTCT	0.582													g|||	56	0.0111821	0.0	0.0014	5008	,	,		9767	0.0228		0.001	False		,,,				2504	0.0317				p.P88L		Atlas-SNP	.											FAM75A6,right_upper_lobe,carcinoma,0,2	.	.	2	0			c.C263T						scavenged	.																																			SO:0001583	missense	389730	exon3			CCTCTCGGGCACT		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.263C>T	9.37:g.43628679G>A	ENSP00000329825:p.Pro88Leu	Somatic	556	0	0		WXS	Illumina HiSeq	Phase_I	462	5	0.0108225	NM_001145196		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.182813	0.00308	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	2.08	-2.63	0.06133	.	0.630203	0.12182	N	0.492007	T	0.01029	0.0034	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.45411	-0.9263	10	0.19147	T	0.46	.	0.1644	0.00107	0.3583:0.2399:0.1662:0.2356	.	88	Q5VVP1	F75A6_HUMAN	L	88	ENSP00000329825:P88L	ENSP00000329825:P88L	P	-	2	0	FAM75A6	43568675	0.003000	0.15002	0.015000	0.15790	0.012000	0.07955	-0.050000	0.11904	-0.592000	0.05851	-0.751000	0.03497	CCG	G|0.996;A|0.004	0.004	strong		0.582	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43628679	G	A	43628679	3	1	27	1	0	0	0	0	1	0	0	0	5622	1116	39	1	3776	1	FAM75A6	9	43628679	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9686920	43628679	97584752	277	21965										
UBQLN1	29979	hgsc.bcm.edu	37	chr9	86278817	86278817	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttactccagcaagagcctgCagcatctgctgaataaactg	8	11	1	2	rs7866234	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:86278817C>A	ENST00000376395.4	-	10	2113	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	UBQLN1_ENST00000257468.7_Silent_p.L502L	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	530					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CAAGAGCCTGCAGCATCTGCT	0.413													C|||	1927	0.384784	0.2005	0.4164	5008	,	,		17810	0.8075		0.2217	False		,,,				2504	0.3436				p.L530L	Melanoma(186;1284 2073 12755 14558 18426)	Atlas-SNP	.											.	UBQLN1	49	.	0			c.G1590T						PASS	.	C	,	895,3511	347.5+/-309.5	92,711,1400	157	143	148		1590,1506	-0.4	1	9	dbSNP_116	148	2031,6569	354.0+/-329.3	225,1581,2494	no	coding-synonymous,coding-synonymous	UBQLN1	NM_013438.4,NM_053067.2	,	317,2292,3894	AA,AC,CC		23.6163,20.3132,22.4973	,	530/590,502/562	86278817	2926,10080	2203	4300	6503	SO:0001819	synonymous_variant	29979	exon10			AGCCTGCAGCATC	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1590G>T	9.37:g.86278817C>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	121	11	0.0909091	NM_013438	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	CCDS6663.1	878	0.40201465201465203	105	0.21341463414634146	143	0.39502762430939226	454	0.7937062937062938	176	0.23218997361477572	C	5.480	0.273549	0.10403	0.203132	0.236163	ENSG00000135018	ENST00000526134	.	.	.	5.74	-0.392	0.12442	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.29181	-1.0020	3	.	.	.	.	12.9536	0.58415	0.0:0.7091:0.0:0.2909	rs7866234;rs60840479;rs7866234	.	.	.	F	137	.	.	C	-	2	0	UBQLN1	85468637	0.959000	0.32827	0.985000	0.45067	0.631000	0.37964	0.036000	0.13819	-0.369000	0.08028	-1.708000	0.00717	TGC	C|0.700;A|0.300	0.300	strong		0.413	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		A	86278817	C	A	86278817	2	1	27	1	0	0	0	0	0	0	0	1	16893	697	25	4		4	UBQLN1	9	86278817	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	42650138	86278817	54934614	278	21966										
KIAA1529	100499483	hgsc.bcm.edu	37	chr9	100122291	100122291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacagaagaactcctcagcTtcgtccaaacttggaaggaa	8	12	1	2	rs3747495	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:100122291T>C	ENST00000357054.1	+	37	4371	c.3436T>C	c.(3436-3438)Ttc>Ctc	p.F1146L	CCDC180_ENST00000375202.2_Missense_Mutation_p.F1175L|CCDC180_ENST00000529487.1_Missense_Mutation_p.F1175L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1146			F -> L (in dbSNP:rs3747495).			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F1146L(1)									ACTCCTCAGCTTCGTCCAAAC	0.507													T|||	1159	0.23143	0.1369	0.3444	5008	,	,		21733	0.2907		0.1879	False		,,,				2504	0.2628				p.F1175L		Atlas-SNP	.											KIAA1529,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	stomach(1)	c.T3523C						scavenged	.	T	LEU/PHE	618,3788	267.7+/-268.0	42,534,1627	166	166	166		3523	3.4	0	9	dbSNP_107	166	1588,7012	298.5+/-303.9	142,1304,2854	yes	missense	C9orf174	NM_020893.2	22	184,1838,4481	CC,CT,TT		18.4651,14.0263,16.9614	benign	1175/1702	100122291	2206,10800	2203	4300	6503	SO:0001583	missense	0	exon26			CTCAGCTTCGTCC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3436T>C	9.37:g.100122291T>C	ENSP00000349562:p.Phe1146Leu	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	148	5	0.0337838	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		508	0.2326007326007326	52	0.10569105691056911	128	0.35359116022099446	174	0.3041958041958042	154	0.20316622691292877	T	12.99	2.103262	0.37145	0.140263	0.184651	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08102	3.13;3.15;3.15	5.71	3.39	0.38822	.	0.472963	0.25919	N	0.027445	T	0.00012	0.0000	L	0.27053	0.805	0.54753	P	1.0999999999983245E-5	B;B	0.33637	0.119;0.42	B;B	0.32090	0.097;0.14	T	0.45366	-0.9266	9	0.10377	T	0.69	-2.0155	6.8103	0.23801	0.0:0.192:0.0:0.808	rs3747495;rs13302501;rs17583370;rs52794397;rs61215609;rs3747495	1314;1146	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1146;1175;1175	ENSP00000349562:F1146L;ENSP00000364348:F1175L;ENSP00000434727:F1175L	ENSP00000349562:F1146L	F	+	1	0	C9orf174	99162112	0.676000	0.27567	0.002000	0.10522	0.031000	0.12232	1.588000	0.36633	0.544000	0.28883	0.459000	0.35465	TTC	T|0.807;C|0.193	0.193	strong		0.507	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100122291	T	C	100122291	3	2	27	1	0	0	0	0	1	0	0	0	8240	1609	56	3	3538	3	KIAA1529	9	100122291	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	13843474	100122291	41091140	279	21967										
COL15A1	1306	hgsc.bcm.edu	37	chr9	101831995	101831995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atggctccagcccccatggcGtccgccttgtggataactac	10	15	0	0	rs10519	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:101831995G>A	ENST00000375001.3	+	42	4417	c.3994G>A	c.(3994-3996)Gtc>Atc	p.V1332I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1332	Nonhelical region 10 (NC10).		V -> I (in dbSNP:rs10519).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCCCATGGCGTCCGCCTTGT	0.502													g|||	914	0.182508	0.2602	0.1153	5008	,	,		17520	0.2758		0.0596	False		,,,				2504	0.1554				p.V1332I		Atlas-SNP	.											COL15A1,colon,carcinoma,0,1	COL15A1	211	1	0			c.G3994A						scavenged	.	A	ILE/VAL	1056,3350	387.0+/-326.3	123,810,1270	110	115	113		3994	2.9	0.4	9	dbSNP_52	113	537,8063	149.4+/-204.5	13,511,3776	yes	missense	COL15A1	NM_001855.3	29	136,1321,5046	AA,AG,GG		6.2442,23.9673,12.2482	benign	1332/1389	101831995	1593,11413	2203	4300	6503	SO:0001583	missense	1306	exon42			CATGGCGTCCGCC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3994G>A	9.37:g.101831995G>A	ENSP00000364140:p.Val1332Ile	Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	359	0.16437728937728938	124	0.25203252032520324	41	0.1132596685082873	144	0.2517482517482518	50	0.06596306068601583	g	8.198	0.797528	0.16327	0.239673	0.062442	ENSG00000204291	ENST00000375001	T	0.42513	0.97	6.17	2.94	0.34122	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.214980	0.47455	N	0.000235	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.32268	-0.9913	9	0.07644	T	0.81	-12.17	4.5283	0.11992	0.4105:0.1596:0.4299:0.0	rs10519;rs1051089;rs3191468;rs11541244;rs57446173	1332	P39059	COFA1_HUMAN	I	1332	ENSP00000364140:V1332I	ENSP00000364140:V1332I	V	+	1	0	COL15A1	100871816	0.011000	0.17503	0.390000	0.26220	0.054000	0.15201	0.279000	0.18771	0.449000	0.26747	-0.713000	0.03633	GTC	G|0.860;A|0.140	0.140	strong		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101831995	G	A	101831995	3	1	27	1	0	0	0	0	1	0	0	0	3672	1145	40	1	4160	1	COL15A1	9	101831995	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1709704	101831995	39381436	280	21968										
NR4A3	8013	hgsc.bcm.edu	37	chr9	102595685	102595685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccaatctgcatgatgaatgcCcttgtccgagctttaacaga	8	11	1	3	rs10988904	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:102595685C>T	ENST00000395097.2	+	5	1932	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	NR4A3_ENST00000330847.1_Silent_p.A412A|NR4A3_ENST00000338488.4_Silent_p.A401A	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	401					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TGATGAATGCCCTTGTCCGAG	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma								C|||	1455	0.290535	0.4191	0.2695	5008	,	,		19484	0.1687		0.3857	False		,,,				2504	0.1595				p.A412A		Atlas-SNP	.		Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	.	NR4A3	80	.	0			c.C1236T						PASS	.	C	,,	1679,2727	508.9+/-367.1	319,1041,843	201	182	189		1203,1203,1236	4.8	1	9	dbSNP_120	189	3124,5476	475.6+/-369.2	575,1974,1751	no	coding-synonymous,coding-synonymous,coding-synonymous	NR4A3	NM_006981.3,NM_173199.2,NM_173200.2	,,	894,3015,2594	TT,TC,CC		36.3256,38.1071,36.9291	,,	401/627,401/444,412/638	102595685	4803,8203	2203	4300	6503	SO:0001819	synonymous_variant	8013	exon6			GAATGCCCTTGTC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1203C>T	9.37:g.102595685C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	171	7	0.0409357	NM_173200	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	CCDS6743.1																																																																																			C|0.649;T|0.351	0.351	strong		0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			T	102595685	C	T	102595685	2	4	27	1	0	0	0	0	0	0	0	1	10634	610	22	2		2	NR4A3	9	102595685	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	763690	102595685	38617746	281	21969										
OR13F1	138805	hgsc.bcm.edu	37	chr9	107266626	107266626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caaagttcaggtcatcatatTtgcggtgtgcttgctgatgt	11	7	3	1	rs79836745	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:107266626T>C	ENST00000334726.2	+	1	172	c.83T>C	c.(82-84)tTt>tCt	p.F28S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTCATCATATTTGCGGTGTGC	0.418													T|||	16	0.00319489	0.0	0.0	5008	,	,		19862	0.0149		0.0	False		,,,				2504	0.001				p.F28S		Atlas-SNP	.											.	OR13F1	75	.	0			c.T83C						PASS	.	T	SER/PHE	0,4406		0,0,2203	132	118	123		83	3.9	0.4	9	dbSNP_132	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR13F1	NM_001004485.1	155	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	28/320	107266626	3,13003	2203	4300	6503	SO:0001583	missense	138805	exon1			TCATATTTGCGGT		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.83T>C	9.37:g.107266626T>C	ENSP00000334452:p.Phe28Ser	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	124	6	0.0483871	NM_001004485	Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	13	0.005952380952380952	0	0.0	0	0.0	13	0.022727272727272728	0	0.0	T	13.67	2.306205	0.40795	0.0	3.49E-4	ENSG00000186881	ENST00000334726	T	0.04551	3.6	3.91	3.91	0.45181	.	0.133830	0.34411	N	0.003984	T	0.09024	0.0223	M	0.72624	2.21	0.43924	D	0.996573	D	0.89917	1.0	D	0.91635	0.999	T	0.00118	-1.2033	10	0.62326	D	0.03	.	11.4142	0.49943	0.0:0.0:0.0:1.0	.	28	Q8NGS4	O13F1_HUMAN	S	28	ENSP00000334452:F28S	ENSP00000334452:F28S	F	+	2	0	OR13F1	106306447	0.995000	0.38212	0.366000	0.25914	0.055000	0.15305	3.535000	0.53575	1.997000	0.58415	0.529000	0.55759	TTT	T|0.991;C|0.009	0.009	strong		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			C	107266626	T	C	107266626	3	2	27	1	0	0	0	0	1	0	0	0	10941	1841	64	2	85	2	OR13F1	9	107266626	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	4670941	107266626	33946805	282	21970										
OR13C5	138799	hgsc.bcm.edu	37	chr9	107360922	107360922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagacttgggcttcatgtacAtgaggaagatggtcccacag	13	8	1	3	rs1851724	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:107360922A>G	ENST00000374779.2	-	1	866	c.773T>C	c.(772-774)aTg>aCg	p.M258T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTTCATGTACATGAGGAAGAT	0.443													A|||	3390	0.676917	0.7466	0.5937	5008	,	,		20659	0.9573		0.4235	False		,,,				2504	0.6135				p.M258T		Atlas-SNP	.											OR13C5,NS,lymphoid_neoplasm,0,1	OR13C5	60	1	0			c.T773C						scavenged	.	A	THR/MET	3165,1241	706.6+/-407.4	1144,877,182	137	123	128		773	4	0.9	9	dbSNP_92	128	3648,4952	525.3+/-380.7	806,2036,1458	yes	missense	OR13C5	NM_001004482.1	81	1950,2913,1640	GG,GA,AA		42.4186,28.1661,47.6165	possibly-damaging	258/319	107360922	6813,6193	2203	4300	6503	SO:0001583	missense	138799	exon1			ATGTACATGAGGA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.773T>C	9.37:g.107360922A>G	ENSP00000363911:p.Met258Thr	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	191	5	0.026178	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	1440	0.6593406593406593	349	0.709349593495935	207	0.5718232044198895	550	0.9615384615384616	334	0.44063324538258575	A	14.53	2.562208	0.45694	0.718339	0.424186	ENSG00000255800	ENST00000374779	T	0.00164	8.64	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00012	0.0000	L	0.41492	1.28	0.45806	P	0.0013180000000000414	P	0.39601	0.68	P	0.45406	0.479	T	0.48536	-0.9027	9	0.51188	T	0.08	.	6.0217	0.19632	0.8838:0.0:0.1162:0.0	rs1851724;rs52797012;rs61541229;rs1851724	258	Q8NGS8	O13C5_HUMAN	T	258	ENSP00000363911:M258T	ENSP00000363911:M258T	M	-	2	0	OR13C5	106400743	0.036000	0.19791	0.947000	0.38551	0.290000	0.27261	1.107000	0.31110	1.704000	0.51252	0.347000	0.21830	ATG	A|0.421;G|0.579	0.579	strong		0.443	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107360922	A	G	107360922	3	3	27	1	0	0	0	0	1	0	0	0	10937	217	8	2	185	2	OR13C5	9	107360922	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	94296	107360922	33852509	283	21971										
OR13C5	138799	hgsc.bcm.edu	37	chr9	107361452	107361452	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctgaaaggaagctcactagCgtggagggaatagaggtggt	16	5	2	2	rs376107801|rs377523807|rs199665292	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:107361452C>G	ENST00000374779.2	-	1	336	c.243G>C	c.(241-243)acG>acC	p.T81T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCTCACTAGCGTGGAGGGAA	0.512													G|||	1377	0.27496	0.3116	0.2133	5008	,	,		19807	0.4504		0.1163	False		,,,				2504	0.2515				p.T81T		Atlas-SNP	.											OR13C5,NS,carcinoma,-2,1	OR13C5	60	1	0			c.G243C						scavenged	.						15	28	23					9																	107361452		2059	4256	6315	SO:0001819	synonymous_variant	138799	exon1			CACTAGCGTGGAG		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243G>C	9.37:g.107361452C>G		Somatic	677	5	0.00738552		WXS	Illumina HiSeq	Phase_I	608	9	0.0148026	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	CCDS35091.1																																																																																			.	.	weak		0.512	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107361452	C	G	107361452	2	3	27	1	0	0	0	0	0	0	0	1	10937	755	27	4		4	OR13C5	9	107361452	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	530	107361452	33851979	284	21972										
OR13D1	286365	hgsc.bcm.edu	37	chr9	107456763	107456763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttacctgaatcatgtccttTtctatactacccagcaggca	5	12	2	1	rs10991359	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:107456763T>C	ENST00000318763.5	+	1	104	c.61T>C	c.(61-63)Ttc>Ctc	p.F21L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	21			F -> L (in dbSNP:rs10991359).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F21L(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCATGTCCTTTTCTATACTAC	0.368													T|||	1099	0.219449	0.0106	0.3631	5008	,	,		18835	0.4484		0.2425	False		,,,				2504	0.1401				p.F21L		Atlas-SNP	.											OR13D1,NS,carcinoma,0,1	OR13D1	42	1	1	Substitution - Missense(1)	prostate(1)	c.T61C						scavenged	.	T	LEU/PHE	238,4166	140.0+/-175.5	6,226,1970	65	61	63		61	-5.4	0	9	dbSNP_120	63	1834,6766	327.2+/-317.7	209,1416,2675	yes	missense	OR13D1	NM_001004484.1	22	215,1642,4645	CC,CT,TT		21.3256,5.4042,15.9336	benign	21/347	107456763	2072,10932	2202	4300	6502	SO:0001583	missense	286365	exon1			GTCCTTTTCTATA		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.61T>C	9.37:g.107456763T>C	ENSP00000317357:p.Phe21Leu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	105	4	0.0380952	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	582	0.2664835164835165	7	0.014227642276422764	117	0.32320441988950277	261	0.4562937062937063	197	0.2598944591029024	T	10.34	1.323824	0.24080	0.054042	0.213256	ENSG00000179055	ENST00000318763	T	0.00003	9.83	4.08	-5.42	0.02640	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.04165	-1.0972	8	0.27785	T	0.31	.	1.5599	0.02593	0.5009:0.1979:0.1347:0.1665	rs10991359;rs52837362;rs10991359	21	Q8NGV5	O13D1_HUMAN	L	21	ENSP00000317357:F21L	ENSP00000317357:F21L	F	+	1	0	OR13D1	106496584	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-1.980000	0.01492	-0.946000	0.03677	0.533000	0.62120	TTC	T|0.800;C|0.200	0.200	strong		0.368	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			C	107456763	T	C	107456763	3	2	27	1	0	0	0	0	1	0	0	0	10940	1841	64	2	63	2	OR13D1	9	107456763	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	95311	107456763	33756668	285	21973										
ABCA1	19	hgsc.bcm.edu	37	chr9	107620867	107620867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgctgcagccagtttctccCttggtaggccacaaagctca	9	14	2	0	rs2230806	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:107620867C>T	ENST00000374736.3	-	7	1050	c.656G>A	c.(655-657)aGg>aAg	p.R219K	ABCA1_ENST00000423487.2_Missense_Mutation_p.R219K	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	219			R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806). {ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11238261, ECO:0000269|PubMed:11257261, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:12624133, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:15520867}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R219K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGTTTCTCCCTTGGTAGGCC	0.468													C|||	2202	0.439696	0.7103	0.3487	5008	,	,		19674	0.4147		0.2425	False		,,,				2504	0.3671				p.R219K		Atlas-SNP	.											ABCA1,NS,carcinoma,0,1	ABCA1	244	1	1	Substitution - Missense(1)	stomach(1)	c.G656A	GRCh37	CM030397	ABCA1	M	rs2230806	scavenged	.	C	LYS/ARG	2672,1734	648.2+/-398.7	820,1032,351	154	151	152	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	656	0.1	0.2	9	dbSNP_98	152	2420,6180	400.1+/-346.7	322,1776,2202	yes	missense	ABCA1	NM_005502.3	26	1142,2808,2553	TT,TC,CC		28.1395,39.3554,39.1512	benign	219/2262	107620867	5092,7914	2203	4300	6503	SO:0001583	missense	19	exon7			TTCTCCCTTGGTA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.656G>A	9.37:g.107620867C>T	ENSP00000363868:p.Arg219Lys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	110	5	0.0454545	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	916	0.4194139194139194	356	0.7235772357723578	127	0.35082872928176795	250	0.4370629370629371	183	0.24142480211081793	C	7.792	0.711767	0.15306	0.606446	0.281395	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.94931	-2.23;-3.56	6.17	0.0573	0.14322	.	0.632115	0.18950	N	0.126712	T	0.00012	0.0000	N	0.04880	-0.145	0.28835	P	0.896936	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	9	0.16896	T	0.51	.	8.2419	0.31665	0.0:0.3764:0.0:0.6236	rs2230806;rs2234884;rs2853572;rs52801000;rs61696010;rs2230806	219	O95477	ABCA1_HUMAN	K	219	ENSP00000363868:R219K;ENSP00000416623:R219K	ENSP00000363868:R219K	R	-	2	0	ABCA1	106660688	0.825000	0.29262	0.227000	0.23927	0.534000	0.34807	0.318000	0.19504	0.083000	0.17047	0.655000	0.94253	AGG	C|0.587;T|0.413	0.413	strong		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107620867	C	T	107620867	3	4	27	1	0	0	0	0	1	0	0	0	28	681	24	2	6305	2	ABCA1	9	107620867	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	164104	107620867	33592564	286	21974										
AKAP2	11217	hgsc.bcm.edu	37	chr9	112900785	112900785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggacaaagaatgccccatcActgccctccagaacatgcta	7	14	1	2	rs3739456	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:112900785A>G	ENST00000259318.7	+	2	2475	c.2268A>G	c.(2266-2268)tcA>tcG	p.S756S	AKAP2_ENST00000434623.2_Silent_p.S845S|PALM2-AKAP2_ENST00000374530.3_Silent_p.S987S|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000510514.5_Silent_p.S987S|AKAP2_ENST00000555236.1_Silent_p.S987S|AKAP2_ENST00000374525.1_Silent_p.S845S|PALM2-AKAP2_ENST00000302798.7_Silent_p.S987S	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	756										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATGCCCCATCACTGCCCTCCA	0.522													G|||	1635	0.326478	0.1498	0.4107	5008	,	,		20700	0.6587		0.2575	False		,,,				2504	0.2342				p.S987S		Atlas-SNP	.											PALM2-AKAP2,NS,carcinoma,0,2	PALM2-AKAP2	117	2	0			c.A2961G						PASS	.	G	,,,,	738,3668	751.0+/-412.2	68,602,1533	71	66	68		2535,2268,2535,2961,2961	-6.5	0.4	9	dbSNP_107	68	2117,6483	707.9+/-405.6	258,1601,2441	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	,,,,	326,2203,3974	GG,GA,AA		24.6163,16.7499,21.9514	,,,,	845/949,756/860,845/962,987/1104,987/1091	112900785	2855,10151	2203	4300	6503	SO:0001819	synonymous_variant	445815	exon8			CCCATCACTGCCC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2268A>G	9.37:g.112900785A>G		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	48	5	0.104167	NM_007203	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	CCDS48003.1																																																																																			A|0.728;G|0.272	0.272	strong		0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		G	112900785	A	G	112900785	2	3	27	1	0	0	0	0	0	0	0	1	451	146	6	2		2	AKAP2	9	112900785	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5279918	112900785	28312646	287	21975										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113169631	113169631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagccttaagtcagagcctGctagaatgtgtccaggttta	10	8	1	2	rs71492888|rs7030192	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:113169631G>A	ENST00000401783.2	-	38	8585	c.8249C>T	c.(8248-8250)gCa>gTa	p.A2750V	SVEP1_ENST00000297826.5_Missense_Mutation_p.A676V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2727V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2750	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.		A -> V (in dbSNP:rs7030192). {ECO:0000269|PubMed:14702039}.		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCAGAGCCTGCTAGAATGTG	0.458													A|||	2138	0.426917	0.5726	0.3256	5008	,	,		22620	0.4365		0.328	False		,,,				2504	0.3937				p.A2750V		Atlas-SNP	.											.	SVEP1	326	.	0			c.C8249T						PASS	.	A	VAL/ALA	1929,2047		465,999,524	75	79	78		8249	4.7	0.1	9	dbSNP_116	78	2601,5709		391,1819,1945	yes	missense	SVEP1	NM_153366.3	64	856,2818,2469	AA,AG,GG		31.2996,48.5161,36.8712	benign	2750/3572	113169631	4530,7756	1988	4155	6143	SO:0001583	missense	79987	exon38			GAGCCTGCTAGAA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8249C>T	9.37:g.113169631G>A	ENSP00000384917:p.Ala2750Val	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	115	5	0.0434783	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	742	0.33974358974358976	212	0.43089430894308944	108	0.2983425414364641	213	0.3723776223776224	209	0.2757255936675462	A	0	-2.739132	0.00088	0.485161	0.312996	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.62364	0.03;0.03;0.03	5.87	4.71	0.59529	Complement control module (2);Sushi/SCR/CCP (3);	0.717443	0.14280	N	0.329611	T	0.00012	0.0000	N	0.00205	-1.85	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.45934	-0.9227	9	0.25106	T	0.35	.	6.1143	0.20117	0.568:0.0:0.0664:0.3656	rs7030192;rs60576083;rs7030192	2750	Q4LDE5	SVEP1_HUMAN	V	2750;2727;676;422	ENSP00000384917:A2750V;ENSP00000363593:A2727V;ENSP00000297826:A676V	ENSP00000297826:A676V	A	-	2	0	SVEP1	112209452	0.005000	0.15991	0.139000	0.22197	0.028000	0.11728	1.821000	0.39041	0.451000	0.26802	-0.352000	0.07741	GCA	A|0.380;G|0.620	0.380	strong		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113169631	G	A	113169631	3	1	27	1	0	0	0	0	1	0	0	0	15417	1319	46	2	2510	2	SVEP1	9	113169631	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	268846	113169631	28043800	288	21976										
SVEP1	79987	hgsc.bcm.edu	37	chr9	113192655	113192655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctgacacgaaaatgtgactTcggcacctactgtataaatc	7	11	0	2	rs2986671	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:113192655T>G	ENST00000401783.2	-	33	5765	c.5429A>C	c.(5428-5430)gAa>gCa	p.E1810A	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1787A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1810	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> A (in dbSNP:rs2986671).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.E1813A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAATGTGACTTCGGCACCTAC	0.408													T|||	930	0.185703	0.0129	0.2406	5008	,	,		17798	0.4087		0.1829	False		,,,				2504	0.1534				p.E1810A		Atlas-SNP	.											SVEP1,NS,carcinoma,-1,3	SVEP1	326	3	1	Substitution - Missense(1)	stomach(1)	c.A5429C						scavenged	.	T	ALA/GLU	137,3617		3,131,1743	68	61	63		5429	2.8	0	9	dbSNP_101	63	1400,6836		119,1162,2837	yes	missense	SVEP1	NM_153366.3	107	122,1293,4580	GG,GT,TT		16.9985,3.6494,12.819	benign	1810/3572	113192655	1537,10453	1877	4118	5995	SO:0001583	missense	79987	exon33			GTGACTTCGGCAC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5429A>C	9.37:g.113192655T>G	ENSP00000384917:p.Glu1810Ala	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	174	4	0.0229885	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	495	0.22664835164835165	10	0.02032520325203252	84	0.23204419889502761	249	0.4353146853146853	152	0.20052770448548812	T	6.654	0.489110	0.12641	0.036494	0.169985	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.64991	-0.13;-0.13	5.27	2.82	0.32997	Complement control module (2);Sushi/SCR/CCP (3);	0.403453	0.29021	N	0.013385	T	0.00012	0.0000	L	0.37897	1.145	0.21915	P	0.99947619	B	0.11235	0.004	B	0.12156	0.007	T	0.41538	-0.9503	9	0.10636	T	0.68	.	8.6135	0.33817	0.1283:0.0:0.1345:0.7371	rs2986671;rs3739449;rs11567627;rs17807596;rs2986671	1810	Q4LDE5	SVEP1_HUMAN	A	1810;1787	ENSP00000384917:E1810A;ENSP00000363593:E1787A	ENSP00000363593:E1787A	E	-	2	0	SVEP1	112232476	0.493000	0.26035	0.022000	0.16811	0.798000	0.45092	2.345000	0.44018	0.397000	0.25310	0.533000	0.62120	GAA	T|0.723;G|0.277	0.277	strong		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113192655	T	G	113192655	3	3	27	1	0	0	0	0	1	0	0	0	15417	1783	62	5	5350	5	SVEP1	9	113192655	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	23024	113192655	28020776	289	21977										
DNAJC25	548645	hgsc.bcm.edu	37	chr9	114411945	114411945	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtaaaatagatataaagggGggctatcagaaaccccaaat	9	6	1	2	rs7019332	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:114411945G>T	ENST00000313525.3	+	3	758	c.702G>T	c.(700-702)ggG>ggT	p.G234G	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	234						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATATAAAGGGGGGCTATCAGA	0.353													G|||	1563	0.312101	0.3517	0.4251	5008	,	,		18464	0.4127		0.2306	False		,,,				2504	0.1585				p.G234G		Atlas-SNP	.											.	DNAJC25	20	.	0			c.G702T						PASS	.	G	,	1147,2465		194,759,853	41	42	42		702,	-0.3	1	9	dbSNP_116	42	1718,6410		175,1368,2521	no	coding-synonymous,intron	DNAJC25,DNAJC25-GNG10	NM_001015882.2,NM_004125.3	,	369,2127,3374	TT,TG,GG		21.1368,31.7553,24.4037	,	234/361,	114411945	2865,8875	1806	4064	5870	SO:0001819	synonymous_variant	548645	exon3			AAAGGGGGGCTAT		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.702G>T	9.37:g.114411945G>T		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	210	9	0.0428571	NM_001015882	Q5QTD8|Q96BN9	Silent	SNP	ENST00000313525.3	37	CCDS43862.1																																																																																			G|0.691;T|0.309	0.309	strong		0.353	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		T	114411945	G	T	114411945	2	4	27	1	0	0	0	0	0	0	0	1	4643	1219	43	4		4	DNAJC25	9	114411945	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1219290	114411945	26801486	290	21978										
CRB2	286204	hgsc.bcm.edu	37	chr9	126133497	126133497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctccagtttgccaatgactcCgcagctggcctaacagtatt	8	13	0	1	rs13290763	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:126133497C>T	ENST00000373631.3	+	8	2077	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	CRB2_ENST00000373629.2_Silent_p.S360S|CRB2_ENST00000359999.3_Silent_p.S692S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	692	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCAATGACTCCGCAGCTGGCC	0.617													C|||	981	0.195887	0.053	0.1729	5008	,	,		20100	0.254		0.2734	False		,,,				2504	0.2658				p.S692S		Atlas-SNP	.											.	CRB2	86	.	0			c.C2076T						PASS	.	C		373,4033		16,341,1846	129	138	135		2076	-9.1	0	9	dbSNP_121	135	2696,5904		427,1842,2031	no	coding-synonymous	CRB2	NM_173689.5		443,2183,3877	TT,TC,CC		31.3488,8.4657,23.5968		692/1286	126133497	3069,9937	2203	4300	6503	SO:0001819	synonymous_variant	286204	exon8			TGACTCCGCAGCT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2076C>T	9.37:g.126133497C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_173689	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			C|0.763;T|0.237	0.237	strong		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126133497	C	T	126133497	2	4	27	1	0	0	0	0	0	0	0	1	3849	639	23	1		1	CRB2	9	126133497	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11721552	126133497	15079934	291	21979										
SLC2A8	29988	hgsc.bcm.edu	37	chr9	130164993	130164993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcggttcctgtggggctcCgagcagggctgggaagaccc	17	12	0	1	rs1138739	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:130164993C>T	ENST00000373371.3	+	5	773	c.684C>T	c.(682-684)tcC>tcT	p.S228S	SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Silent_p.S228S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	228					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TGTGGGGCTCCGAGCAGGGCT	0.667													C|||	909	0.18151	0.0287	0.3905	5008	,	,		18586	0.1994		0.2495	False		,,,				2504	0.1513				p.S228S		Atlas-SNP	.											.	SLC2A8	27	.	0			c.C684T						PASS	.	C		247,4079		7,233,1923	13	13	13		684	-6.5	0.5	9	dbSNP_86	13	1703,6815		179,1345,2735	no	coding-synonymous	SLC2A8	NM_014580.3		186,1578,4658	TT,TC,CC		19.993,5.7097,15.1822		228/478	130164993	1950,10894	2163	4259	6422	SO:0001819	synonymous_variant	29988	exon5			GGGCTCCGAGCAG	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.684C>T	9.37:g.130164993C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	74	4	0.0540541	NM_014580	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1	468	0.21428571428571427	18	0.036585365853658534	119	0.3287292817679558	134	0.23426573426573427	197	0.2598944591029024	C	8.232	0.804925	0.16467	0.057097	0.19993	ENSG00000136856	ENST00000419132	.	.	.	4.85	-6.51	0.01878	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999292092	.	.	.	.	.	.	T	0.25433	-1.0132	3	.	.	.	.	9.1661	0.37052	0.1166:0.2684:0.0:0.615	rs1138739;rs3202779;rs3802365;rs17425222	.	.	.	L	138	.	.	P	+	2	0	SLC2A8	129204814	0.000000	0.05858	0.475000	0.27278	0.902000	0.53008	-6.055000	0.00083	-1.115000	0.02973	-0.471000	0.05019	CCG	C|0.827;T|0.173	0.173	strong		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		T	130164993	C	T	130164993	2	4	27	1	0	0	0	0	0	0	0	1	14551	639	23	1		1	SLC2A8	9	130164993	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4031496	130164993	11048438	292	21980										
TTC16	158248	hgsc.bcm.edu	37	chr9	130480025	130480025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaactgcaagcacctggagCgcctcacctttgtgctctac	8	15	2	0	rs117963786	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:130480025C>T	ENST00000373289.3	+	4	480	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	134										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCACCTGGAGCGCCTCACCTT	0.647													C|||	42	0.00838658	0.003	0.0	5008	,	,		15784	0.0367		0.0	False		,,,				2504	0.001				p.R134C		Atlas-SNP	.											.	TTC16	55	.	0			c.C400T						PASS	.	C	CYS/ARG	11,4395	17.9+/-39.9	0,11,2192	58	59	59		400	4.6	0.5	9	dbSNP_132	59	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TTC16	NM_144965.1	180	0,15,6488	TT,TC,CC		0.0465,0.2497,0.1153	probably-damaging	134/874	130480025	15,12991	2203	4300	6503	SO:0001583	missense	158248	exon4			CTGGAGCGCCTCA	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.400C>T	9.37:g.130480025C>T	ENSP00000362386:p.Arg134Cys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	62	5	0.0806452	NM_144965	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	22	0.010073260073260074	2	0.0040650406504065045	0	0.0	20	0.03496503496503497	0	0.0	C	13.51	2.258983	0.39896	0.002497	4.65E-4	ENSG00000167094	ENST00000373289	T	0.54866	0.55	4.6	4.6	0.57074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.093873	0.42294	D	0.000734	T	0.45196	0.1330	M	0.78637	2.42	0.37317	D	0.909407	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.69098	-0.5235	10	0.87932	D	0	-42.5384	8.7037	0.34340	0.0:0.8944:0.0:0.1056	.	121;134	B4DZ42;Q8NEE8	.;TTC16_HUMAN	C	134	ENSP00000362386:R134C	ENSP00000362386:R134C	R	+	1	0	TTC16	129519846	0.991000	0.36638	0.456000	0.27044	0.136000	0.21042	3.149000	0.50655	2.132000	0.65825	0.313000	0.20887	CGC	C|0.996;T|0.004	0.004	strong		0.647	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		T	130480025	C	T	130480025	3	4	27	1	0	0	0	0	1	0	0	0	16680	768	27	1	414	1	TTC16	9	130480025	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	315032	130480025	10733406	293	21981										
KIAA0649	9858	hgsc.bcm.edu	37	chr9	138376649	138376649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggagccacccgcgttggctgTctgtggtctcgttgctgact	14	12	2	1	rs3748192	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:138376649T>C	ENST00000356818.2	+	4	842	c.293T>C	c.(292-294)gTc>gCc	p.V98A	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.V98A|PPP1R26_ENST00000401470.3_Missense_Mutation_p.V98A|PPP1R26_ENST00000605286.1_Missense_Mutation_p.V98A|PPP1R26_ENST00000605660.1_Missense_Mutation_p.V98A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	98			V -> A (in dbSNP:rs3748192). {ECO:0000269|PubMed:15489334}.		negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCGTTGGCTGTCTGTGGTCTC	0.627													C|||	2095	0.418331	0.2905	0.4899	5008	,	,		16315	0.6528		0.2117	False		,,,				2504	0.5112				p.V98A		Atlas-SNP	.											KIAA0649,NS,carcinoma,0,1	.	.	1	0			c.T293C						PASS	.	C	ALA/VAL	1113,3291		132,849,1221	41	48	46		293	3.4	0.1	9	dbSNP_107	46	1777,6821		195,1387,2717	no	missense	KIAA0649	NM_014811.3	64	327,2236,3938	CC,CT,TT		20.6676,25.2725,22.2273	benign	98/1210	138376649	2890,10112	2202	4299	6501	SO:0001583	missense	9858	exon4			TGGCTGTCTGTGG	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.293T>C	9.37:g.138376649T>C	ENSP00000349274:p.Val98Ala	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	66	4	0.0606061	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	833	0.3814102564102564	122	0.24796747967479674	158	0.43646408839779005	394	0.6888111888111889	159	0.20976253298153033	C	0.007	-2.011636	0.00422	0.252725	0.206676	ENSG00000196422	ENST00000356818;ENST00000401470	T;T	0.46063	0.88;0.88	4.39	3.41	0.39046	.	0.854487	0.10136	N	0.711490	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45116	-0.9283	9	0.02654	T	1	-12.6961	7.3836	0.26870	0.2105:0.6922:0.0:0.0973	rs3748192;rs17846422;rs17859468;rs3748192	98	Q5T8A7	PPR26_HUMAN	A	98	ENSP00000349274:V98A;ENSP00000385826:V98A	ENSP00000349274:V98A	V	+	2	0	KIAA0649	137516470	0.006000	0.16342	0.106000	0.21319	0.067000	0.16453	1.185000	0.32065	1.085000	0.41206	-0.119000	0.15052	GTC	T|0.723;C|0.277	0.277	strong		0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		C	138376649	T	C	138376649	3	2	27	1	0	0	0	0	1	0	0	0	8187	1667	58	2	295	2	KIAA0649	9	138376649	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	7896624	138376649	2836782	294	21982										
PAEP	5047	hgsc.bcm.edu	37	chr9	138456155	138456155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atttcctgtttctctgcctaCaggacaccaccacccccatc	4	18	1	0	rs3748210	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:138456155C>A	ENST00000479141.1	+	4	420	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	PAEP_ENST00000277508.5_Missense_Mutation_p.Q126K|PAEP_ENST00000371766.2_Missense_Mutation_p.Q126K	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	126			Q -> K (in dbSNP:rs3748210).		multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)	p.Q126K(1)		cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCTCTGCCTACAGGACACCAC	0.547													.|||	1465	0.292532	0.3994	0.2608	5008	,	,		19035	0.497		0.0517	False		,,,				2504	0.2076				p.Q126K		Atlas-SNP	.											PAEP,NS,carcinoma,0,2	PAEP	16	2	1	Substitution - Missense(1)	stomach(1)	c.C376A						PASS	.	A	LYS/GLN,LYS/GLN	1356,2988		203,950,1019	92	67	76		376,376	-0.2	0	9	dbSNP_107	76	252,8250		3,246,4002	no	missense,missense	PAEP	NM_001018049.1,NM_002571.2	53,53	206,1196,5021	AA,AC,CC		2.964,31.2155,12.5175	benign,benign	126/181,126/181	138456155	1608,11238	2172	4251	6423	SO:0001583	missense	5047	exon4			TGCCTACAGGACA		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.376C>A	9.37:g.138456155C>A	ENSP00000417898:p.Gln126Lys	Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	301	14	0.0465116	NM_002571	Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	CCDS35173.1	601|601	0.2751831501831502|0.2751831501831502	184|184	0.37398373983739835|0.37398373983739835	95|95	0.26243093922651933|0.26243093922651933	280|280	0.48951048951048953|0.48951048951048953	42|42	0.055408970976253295|0.055408970976253295	A|A	1.043|1.043	-0.678353|-0.678353	0.03378|0.03378	0.312155|0.312155	0.02964|0.02964	ENSG00000122133|ENSG00000122133	ENST00000479141;ENST00000371766;ENST00000277508;ENST00000418284|ENST00000454923	T;T;T;T|.	0.05717|.	3.4;3.4;3.4;3.4|.	1.8|1.8	-0.248|-0.248	0.13015|0.13015	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00707|0.00707	-1.245|-1.245	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.43940|0.43940	-0.9360|-0.9360	8|4	0.06494|.	T|.	0.89|.	.|.	2.7485|2.7485	0.05273|0.05273	0.3718:0.2509:0.3773:0.0|0.3718:0.2509:0.3773:0.0	rs3748210;rs60165543|rs3748210;rs60165543	104;126|.	P09466-2;P09466|.	.;PAEP_HUMAN|.	K|K	126;126;126;78|71	ENSP00000417898:Q126K;ENSP00000360831:Q126K;ENSP00000277508:Q126K;ENSP00000401933:Q78K|.	ENSP00000277508:Q126K|.	Q|T	+|+	1|2	0|0	PAEP|PAEP	137595976|137595976	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.382000|-0.382000	0.07408|0.07408	-0.460000|-0.460000	0.07003|0.07003	-1.346000|-1.346000	0.01242|0.01242	CAG|ACA	.	.	weak		0.547	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		A	138456155	C	A	138456155	3	1	27	1	0	0	0	0	1	0	0	0	11382	479	17	4	390	4	PAEP	9	138456155	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	79506	138456155	2757276	295	21983										
MAN1B1	11253	hgsc.bcm.edu	37	chr9	139981546	139981546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cggggccccttgggccgtcgCcaccactgtagtcatgtacc	12	16	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:139981546C>T	ENST00000371589.4	+	1	168	c.95C>T	c.(94-96)gCc>gTc	p.A32V	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	32					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGGGCCGTCGCCACCACTGTA	0.652																																					p.A32V		Atlas-SNP	.											.	MAN1B1	40	.	0			c.C95T						PASS	.						10	13	12					9																	139981546		2178	4265	6443	SO:0001583	missense	11253	exon1			CCGTCGCCACCAC	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.95C>T	9.37:g.139981546C>T	ENSP00000360645:p.Ala32Val	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	48	12	0.25	NM_016219	Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382251	0.24944	.	.	ENSG00000177239	ENST00000371589	T	0.74106	-0.81	3.33	-0.544	0.11847	.	.	.	.	.	T	0.48660	0.1512	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.36237	-0.9756	9	0.72032	D	0.01	.	2.3432	0.04265	0.404:0.2871:0.0:0.3089	.	32	Q9UKM7	MA1B1_HUMAN	V	32	ENSP00000360645:A32V	ENSP00000360645:A32V	A	+	2	0	MAN1B1	139101367	0.002000	0.14202	0.000000	0.03702	0.031000	0.12232	0.358000	0.20216	-0.242000	0.09667	0.462000	0.41574	GCC	.	.	none		0.652	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		T	139981546	C	T	139981546	3	4	27	1	0	0	0	0	1	0	0	0	9212	739	26	2	97	2	MAN1B1	9	139981546	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1525391	139981546	1231885	296	21984										
PNPLA7	375775	hgsc.bcm.edu	37	chr9	140356422	140356422	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcggcccctgctggtcgcgGagcatcttctccagcacgcc	11	18	2	0	rs28452008	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr9:140356422G>C	ENST00000277531.4	-	31	3828	c.3642C>G	c.(3640-3642)ctC>ctG	p.L1214L	NSMF_ENST00000371474.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.L1239L|PNPLA7_ENST00000371457.1_Silent_p.L820L|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000392812.4_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1214					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGGTCGCGGAGCATCTTCT	0.706													C|||	2452	0.489617	0.3177	0.3588	5008	,	,		14382	0.8204		0.3847	False		,,,				2504	0.5818				p.L1239L		Atlas-SNP	.											PNPLA7,NS,carcinoma,0,1	PNPLA7	124	1	0			c.C3717G						PASS	.	C	,	1420,2962		231,958,1002	11	13	13		3717,3642	1.1	1	9	dbSNP_125	13	3144,5428		623,1898,1765	no	coding-synonymous,coding-synonymous	PNPLA7	NM_001098537.1,NM_152286.3	,	854,2856,2767	CC,CG,GG		36.6776,32.4053,35.2324	,	1239/1343,1214/1318	140356422	4564,8390	2191	4286	6477	SO:0001819	synonymous_variant	375775	exon32			GTCGCGGAGCATC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3642C>G	9.37:g.140356422G>C		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	78	5	0.0641026	NM_001098537	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	CCDS7045.1																																																																																			G|0.620;C|0.380	0.380	strong		0.706	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		C	140356422	G	C	140356422	2	2	27	1	0	0	0	0	0	0	0	1	12170	1161	41	4		4	PNPLA7	9	140356422	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	374876	140356422	857009	297	21985										
C10orf18	54906	hgsc.bcm.edu	37	chr10	5781969	5781969	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aattctggatcagacttaacAgttagccaagatgaagaaag	9	6	2	4	rs2797486	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:5781969A>T	ENST00000328090.5	+	13	2461	c.1836A>T	c.(1834-1836)acA>acT	p.T612T	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	612																	CAGACTTAACAGTTAGCCAAG	0.418													T|||	4192	0.837061	0.8865	0.8804	5008	,	,		21755	0.8135		0.841	False		,,,				2504	0.7597				p.T612T		Atlas-SNP	.											C10orf18,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	.	.	1	0			c.A1836T						PASS	.	T		3286,484		1429,428,28	96	88	90		1836	-7	0	10	dbSNP_100	90	6864,1384		2851,1162,111	no	coding-synonymous	FAM208B	NM_017782.4		4280,1590,139	TT,TA,AA		16.7798,12.8382,15.5434		612/2431	5781969	10150,1868	1885	4124	6009	SO:0001819	synonymous_variant	54906	exon13			CTTAACAGTTAGC	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1836A>T	10.37:g.5781969A>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																			A|0.163;T|0.837	0.837	strong		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5781969	A	T	5781969	2	4	27	1	0	0	0	0	0	0	0	1	1596	175	7	5		5	C10orf18	10	5781969	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10		5781969	129752778	298	21986										
FBXO18	84893	hgsc.bcm.edu	37	chr10	5960434	5960434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacacccacgtcttctatcTcacgcaggtaagtgcgcact	7	16	3	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:5960434T>C	ENST00000362091.4	+	13	2208	c.2093T>C	c.(2092-2094)cTc>cCc	p.L698P	FBXO18_ENST00000397269.3_Missense_Mutation_p.L185P|FBXO18_ENST00000379999.5_Missense_Mutation_p.L749P	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	698					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GTCTTCTATCTCACGCAGGTA	0.567																																					p.L749P		Atlas-SNP	.											.	FBXO18	108	.	0			c.T2246C						PASS	.						129	107	114					10																	5960434		2203	4300	6503	SO:0001583	missense	84893	exon14			TCTATCTCACGCA	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2093T>C	10.37:g.5960434T>C	ENSP00000355415:p.Leu698Pro	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736778	0.89482	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.96685	-4.09;-4.09;-4.09	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.99094	1.0841	10	0.87932	D	0	-22.7842	15.9978	0.80265	0.0:0.0:0.0:1.0	.	749;698;624	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	P	185;698;749	ENSP00000380439:L185P;ENSP00000355415:L698P;ENSP00000369335:L749P	ENSP00000355415:L698P	L	+	2	0	FBXO18	6000440	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.130000	0.77235	2.252000	0.74401	0.529000	0.55759	CTC	.	.	none		0.567	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		C	5960434	T	C	5960434	3	2	27	1	0	0	0	0	1	0	0	0	5731	1551	54	3	2305	3	FBXO18	10	5960434	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	178465	5960434	129574313	299	21987										
GATA3	2625	hgsc.bcm.edu	37	chr10	8100789	8100789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gatgcaagtccaggcccaagGcccggtccagcacaggtagg	14	13	0	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:8100789G>A	ENST00000346208.3	+	3	1218	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	GATA3_ENST00000379328.3_Missense_Mutation_p.A255T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	255					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CAGGCCCAAGGCCCGGTCCAG	0.672			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.A255T		Atlas-SNP	.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3	182	.	0			c.G763A						PASS	.						22	26	25					10																	8100789		2200	4297	6497	SO:0001583	missense	2625	exon3			CCCAAGGCCCGGT	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.763G>A	10.37:g.8100789G>A	ENSP00000341619:p.Ala255Thr	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	13	4	0.307692	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219508	0.22373	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99683	-4.03;-6.39	5.55	5.55	0.83447	.	0.114990	0.64402	D	0.000016	D	0.97108	0.9055	N	0.03983	-0.305	0.42059	D	0.991155	B;B	0.12630	0.001;0.006	B;B	0.13407	0.002;0.009	D	0.97432	1.0016	10	0.10377	T	0.69	-29.272	12.7969	0.57564	0.0747:0.0:0.9253:0.0	.	255;255	P23771;P23771-2	GATA3_HUMAN;.	T	255	ENSP00000368632:A255T;ENSP00000341619:A255T	ENSP00000341619:A255T	A	+	1	0	GATA3	8140795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.681000	0.68175	2.607000	0.88179	0.561000	0.74099	GCC	.	.	none		0.672	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		A	8100789	G	A	8100789	3	1	27	1	0	0	0	0	1	0	0	0	6255	1203	42	2	769	2	GATA3	10	8100789	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2140355	8100789	127433958	300	21988										
FRMD4A	55691	hgsc.bcm.edu	37	chr10	13702500	13702500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgacggtggccgaggagggaGtcccttgtgaggagaatgta	18	7	0	2	rs145701309		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:13702500G>A	ENST00000357447.2	-	20	2082	c.1714C>T	c.(1714-1716)Ctc>Ttc	p.L572F	FRMD4A_ENST00000358621.4_Missense_Mutation_p.L557F|FRMD4A_ENST00000378503.1_Missense_Mutation_p.L572F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	572					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGAGGAGGGAGTCCCTTGTGA	0.577											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L572F		Atlas-SNP	.											FRMD4A,NS,carcinoma,+1,1	FRMD4A	108	1	0			c.C1714T						scavenged	.						110	105	106					10																	13702500		2203	4300	6503	SO:0001583	missense	55691	exon20			GAGGGAGTCCCTT	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1714C>T	10.37:g.13702500G>A	ENSP00000350032:p.Leu572Phe	Somatic	126	1	0.00793651	689	WXS	Illumina HiSeq	Phase_I	149	6	0.0402685	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759197	0.69763	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84146	-1.81;-1.81;-1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	N	0.22421	0.69	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	D	0.84814	0.0792	10	0.45353	T	0.12	-22.5455	13.3013	0.60326	0.0722:0.0:0.9278:0.0	.	572	Q9P2Q2	FRM4A_HUMAN	F	557;572;572	ENSP00000351438:L557F;ENSP00000350032:L572F;ENSP00000367764:L572F	ENSP00000350032:L572F	L	-	1	0	FRMD4A	13742506	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.616000	0.67709	2.757000	0.94681	0.462000	0.41574	CTC	G|1.000;T|0.000	.	alt		0.577	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		A	13702500	G	A	13702500	3	1	27	1	0	0	0	0	1	0	0	0	6051	1029	36	2	1425	2	FRMD4A	10	13702500	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5601711	13702500	121832247	301	21989										
CUBN	8029	hgsc.bcm.edu	37	chr10	16948390	16948390	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtttccttcaggagtatttGgaagagacccaccacacact	8	11	1	1	rs3740168	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:16948390G>C	ENST00000377833.4	-	50	7789	c.7724C>G	c.(7723-7725)cCa>cGa	p.P2575R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2575	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.		P -> R (in dbSNP:rs3740168). {ECO:0000269|PubMed:10080186}.		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGAGTATTTGGAAGAGACCC	0.428													G|||	338	0.067492	0.0045	0.0634	5008	,	,		18958	0.1369		0.0219	False		,,,				2504	0.1309				p.P2575R		Atlas-SNP	.											CUBN,right_upper_lobe,carcinoma,-1,1	CUBN	515	1	0			c.C7724G						scavenged	.	G	ARG/PRO	31,4375	37.6+/-69.7	0,31,2172	65	66	66		7724	4.6	0	10	dbSNP_107	66	127,8469	63.9+/-126.0	4,119,4175	yes	missense	CUBN	NM_001081.3	103	4,150,6347	CC,CG,GG		1.4774,0.7036,1.2152	benign	2575/3624	16948390	158,12844	2203	4298	6501	SO:0001583	missense	8029	exon50			GTATTTGGAAGAG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7724C>G	10.37:g.16948390G>C	ENSP00000367064:p.Pro2575Arg	Somatic	133	1	0.0075188		WXS	Illumina HiSeq	Phase_I	133	6	0.0451128	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	125	0.05723443223443223	5	0.01016260162601626	23	0.06353591160220995	83	0.1451048951048951	14	0.018469656992084433	G	7.428	0.638180	0.14386	0.007036	0.014774	ENSG00000107611	ENST00000377833	T	0.17370	2.28	5.54	4.64	0.57946	CUB (5);	0.780797	0.11184	N	0.590670	T	0.00039	0.0001	N	0.02674	-0.535	0.45118	P	0.0018620000000000303	B	0.25904	0.137	B	0.28991	0.097	T	0.39231	-0.9624	9	0.14252	T	0.57	.	8.2189	0.31530	0.1009:0.0:0.746:0.1531	rs3740168	2575	O60494	CUBN_HUMAN	R	2575	ENSP00000367064:P2575R	ENSP00000367064:P2575R	P	-	2	0	CUBN	16988396	0.008000	0.16893	0.002000	0.10522	0.054000	0.15201	1.784000	0.38674	1.474000	0.48178	-0.245000	0.11935	CCA	G|0.974;C|0.026	0.026	strong		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16948390	G	C	16948390	3	2	27	1	0	0	0	0	1	0	0	0	4051	1348	47	4	3219	4	CUBN	10	16948390	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3245890	16948390	118586357	302	21990										
MYO3A	53904	hgsc.bcm.edu	37	chr10	26462790	26462790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aataatgtgtatgaggaagaGgttaagcaagaattctacct	10	4	1	3	rs3740232	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:26462790G>A	ENST00000265944.5	+	30	3763	c.3597G>A	c.(3595-3597)gaG>gaA	p.E1199E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1199					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1199E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGAGGAAGAGGTTAAGCAAG	0.418													G|||	1648	0.329073	0.2262	0.317	5008	,	,		19882	0.3532		0.3429	False		,,,				2504	0.4376				p.E1199E		Atlas-SNP	.											MYO3A,colon,carcinoma,0,2	MYO3A	371	2	1	Substitution - coding silent(1)	stomach(1)	c.G3597A						scavenged	.	G		1105,3301	396.7+/-330.2	139,827,1237	87	86	86		3597	0	0	10	dbSNP_107	86	2884,5716	452.0+/-362.8	486,1912,1902	no	coding-synonymous	MYO3A	NM_017433.4		625,2739,3139	AA,AG,GG		33.5349,25.0794,30.6705		1199/1617	26462790	3989,9017	2203	4300	6503	SO:0001819	synonymous_variant	53904	exon30			GGAAGAGGTTAAG	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3597G>A	10.37:g.26462790G>A		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	162	2	0.0123457	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																			G|0.681;A|0.319	0.319	strong		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26462790	G	A	26462790	2	1	27	1	0	0	0	0	0	0	0	1	10076	991	35	2		2	MYO3A	10	26462790	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9514400	26462790	109071957	303	21991										
ARHGAP12	94134	hgsc.bcm.edu	37	chr10	32128611	32128611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagaagactcattttcaggaAagcagggttttgaggcagtt	13	5	2	3	rs2808096	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:32128611A>G	ENST00000344936.2	-	8	1559	c.1325T>C	c.(1324-1326)tTt>tCt	p.F442S	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.F395S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.F395S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.F442S|ARHGAP12_ENST00000375250.5_Intron	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	442			F -> S (in dbSNP:rs2808096).		morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATTTTCAGGAAAGCAGGGTTT	0.343													A|||	1161	0.231829	0.0545	0.2954	5008	,	,		13632	0.4127		0.2048	False		,,,				2504	0.2679				p.F442S		Atlas-SNP	.											.	ARHGAP12	79	.	0			c.T1325C						PASS	.	A	SER/PHE	371,4035	186.4+/-213.3	16,339,1848	109	110	110		1325	3.2	1	10	dbSNP_100	110	1824,6776	326.4+/-317.4	190,1444,2666	yes	missense	ARHGAP12	NM_018287.5	155	206,1783,4514	GG,GA,AA		21.2093,8.4203,16.8768	benign	442/847	32128611	2195,10811	2203	4300	6503	SO:0001583	missense	94134	exon8			TCAGGAAAGCAGG	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1325T>C	10.37:g.32128611A>G	ENSP00000345808:p.Phe442Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	68	4	0.0588235	NM_001270695	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	505	0.23122710622710624	28	0.056910569105691054	89	0.24585635359116023	219	0.38286713286713286	169	0.22295514511873352	A	11.71	1.718440	0.30503	0.084203	0.212093	ENSG00000165322	ENST00000311380;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.51	3.15	0.36227	.	0.228703	0.38548	N	0.001653	T	0.00012	0.0000	N	0.08118	0	0.36264	P	0.145235	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.48091	-0.9065	9	0.20046	T	0.44	.	6.4215	0.21746	0.7804:0.0:0.0739:0.1457	rs2808096;rs17582209;rs52793660;rs2808096	442;442;395	Q504X1;Q8IWW6;Q8IWW6-3	.;RHG12_HUMAN;.	S	395;442;442;395	ENSP00000310984:F395S;ENSP00000345808:F442S;ENSP00000379448:F442S;ENSP00000364394:F395S	ENSP00000310984:F395S	F	-	2	0	ARHGAP12	32168617	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.817000	0.39002	0.443000	0.26582	0.533000	0.62120	TTT	G|0.199;N|0.000	0.199	strong		0.343	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			G	32128611	A	G	32128611	3	3	27	1	0	0	0	0	1	0	0	0	865	14	1	2	1267	2	ARHGAP12	10	32128611	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5665821	32128611	103406136	304	21992										
ARHGAP12	94134	hgsc.bcm.edu	37	chr10	32141460	32141460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attacctttggcaattcccaTtctgaccgagatccgtctgc	7	13	2	2	rs2799021	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:32141460T>C	ENST00000344936.2	-	6	1389	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	ARHGAP12_ENST00000311380.4_Silent_p.E338E|ARHGAP12_ENST00000375245.4_Silent_p.E338E|ARHGAP12_ENST00000396144.4_Silent_p.E385E|ARHGAP12_ENST00000375250.5_Silent_p.E385E	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	385	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCAATTCCCATTCTGACCGAG	0.333													T|||	1161	0.231829	0.0545	0.2954	5008	,	,		15238	0.4127		0.2048	False		,,,				2504	0.2679				p.E385E		Atlas-SNP	.											.	ARHGAP12	79	.	0			c.A1155G						PASS	.	T		371,4035	187.8+/-214.3	16,339,1848	100	99	99		1155	2.1	1	10	dbSNP_100	99	1826,6774	327.9+/-318.0	191,1444,2665	no	coding-synonymous	ARHGAP12	NM_018287.5		207,1783,4513	CC,CT,TT		21.2326,8.4203,16.8922		385/847	32141460	2197,10809	2203	4300	6503	SO:0001819	synonymous_variant	94134	exon6			TTCCCATTCTGAC	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1155A>G	10.37:g.32141460T>C		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	238	11	0.0462185	NM_001270696	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	CCDS7170.1	505	0.23122710622710624	28	0.056910569105691054	89	0.24585635359116023	219	0.38286713286713286	169	0.22295514511873352	T	9.049	0.991719	0.18966	0.084203	0.212326	ENSG00000165322	ENST00000454919	.	.	.	5.85	2.14	0.27477	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.38672	-0.9650	3	.	.	.	.	10.3205	0.43762	0.0:0.2537:0.0:0.7463	rs2799021;rs17572817;rs56514703;rs2799021	.	.	.	V	61	.	.	M	-	1	0	ARHGAP12	32181466	0.998000	0.40836	0.997000	0.53966	0.961000	0.63080	0.386000	0.20702	0.108000	0.17862	0.455000	0.32223	ATG	T|0.798;C|0.202	0.202	strong		0.333	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			C	32141460	T	C	32141460	2	2	27	1	0	0	0	0	0	0	0	1	865	1490	52	2		2	ARHGAP12	10	32141460	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	12849	32141460	103393287	305	21993										
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659338	43659338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctaattttcacaattacacCttggtctcattgaatgaaga	5	8	3	3	rs78146682	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:43659338C>T	ENST00000374466.3	+	5	1340	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	335					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.T335T(3)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCAT	0.403																																					p.T335T		Atlas-SNP	.											CSGALNACT2,NS,carcinoma,0,3	CSGALNACT2	67	3	3	Substitution - coding silent(3)	endometrium(3)	c.C1005T						scavenged	.						175	159	164					10																	43659338		2203	4300	6503	SO:0001819	synonymous_variant	55454	exon5			TTACACCTTGGTC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1005C>T	10.37:g.43659338C>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	139	2	0.0143885	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	CCDS7201.1																																																																																			C|0.996;T|0.005	0.005	strong		0.403	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659338	C	T	43659338	2	4	27	1	0	0	0	0	0	0	0	1	3939	668	24	2		2	CSGALNACT2	10	43659338	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11517878	43659338	91875409	306	21994										
FRMPD2	143162	hgsc.bcm.edu	37	chr10	49409419	49409420	+	Frame_Shift_Ins	INS	-	-	T													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cactgcttgtgatggtgaacINStttttttgctgaaggaagca					rs199957001		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:49409419_49409420insT	ENST00000374201.3	-	15	2107_2108	c.1805_1806insA	c.(1804-1806)aagfs	p.K602fs	FRMPD2_ENST00000407470.4_Frame_Shift_Ins_p.K570fs|FRMPD2_ENST00000305531.3_Frame_Shift_Ins_p.K577fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	602	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGATGGTGAACTTTTTTTGCTG	0.465																																					p.K602fs		Pindel	.											.	FRMPD2	157	.	0			c.1806_1807insA						PASS	.																																			SO:0001589	frameshift_variant	143162	exon15			.	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1806dupA	10.37:g.49409426_49409426dupT	ENSP00000363317:p.Lys602fs	Somatic	121	.	.		WXS	Illumina HiSeq	Phase_I	125	28	0.224	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Ins	INS	ENST00000374201.3	37	CCDS31195.1																																																																																			.	.	none		0.465	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		T	49409420	-	T	49409419	7	5	27	1	0	1	1	0	0	0	0	0	6058	564	20	0	2183	0	FRMPD2	10	49409419	Frame_Shift_Ins	INS	-	TCGA-GR-A4D9-01B-11D-A31X-10	5750081	49409419	86125328	307	21995										
ERCC6	2074	hgsc.bcm.edu	37	chr10	50678317	50678317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cactgtcttgcttctggtaaCgccttttcttcaccaggtgt	8	12	4	0	rs4253211	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:50678317C>G	ENST00000355832.5	-	18	3767	c.3689G>C	c.(3688-3690)cGt>cCt	p.R1230P	ERCC6_ENST00000542458.1_Missense_Mutation_p.R600P|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1230			R -> P (in dbSNP:rs4253211). {ECO:0000269|Ref.3}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R1230P(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCTGGTAACGCCTTTTCTT	0.413								Direct reversal of damage;Nucleotide excision repair (NER)					C|||	238	0.047524	0.0076	0.0274	5008	,	,		20047	0.0804		0.0915	False		,,,				2504	0.0368				p.K1230T		Atlas-SNP	.											ERCC6,NS,carcinoma,0,1	ERCC6	162	1	1	Substitution - Missense(1)	stomach(1)	c.A3689C						scavenged	.	C	PRO/ARG	92,4314	76.8+/-115.0	0,92,2111	368	347	354		3689	-7.1	0	10	dbSNP_111	354	827,7773	191.3+/-237.5	46,735,3519	yes	missense	ERCC6	NM_000124.2	103	46,827,5630	GG,GC,CC		9.6163,2.0881,7.066	benign	1230/1494	50678317	919,12087	2203	4300	6503	SO:0001583	missense	2074	exon18			TGGTAACGCCTTT	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3689G>C	10.37:g.50678317C>G	ENSP00000348089:p.Arg1230Pro	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	162	5	0.0308642	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	140	0.0641025641025641	5	0.01016260162601626	11	0.03038674033149171	58	0.10139860139860139	66	0.0870712401055409	C	9.193	1.026462	0.19512	0.020881	0.096163	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83419	-1.72;-1.46	5.41	-7.13	0.01532	.	.	.	.	.	T	0.07007	0.0178	M	0.62016	1.91	0.58432	P	1.0000000000287557E-6	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.37033	-0.9723	8	0.35671	T	0.21	-2.4611	5.033	0.14419	0.0753:0.6027:0.1507:0.1713	rs4253211;rs17783841;rs52816732;rs56589667;rs4253211	1230;607	Q03468;Q59FF6	ERCC6_HUMAN;.	P	1230;607;600	ENSP00000348089:R1230P;ENSP00000445134:R600P	ENSP00000348089:R1230P	R	-	2	0	ERCC6	50348323	0.000000	0.05858	0.004000	0.12327	0.601000	0.36947	-0.548000	0.06048	-1.579000	0.01646	-0.229000	0.12294	CGT	C|0.930;G|0.070	0.070	strong		0.413	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		G	50678317	C	G	50678317	3	3	27	1	0	0	0	0	1	0	0	0	5217	536	19	4	808	4	ERCC6	10	50678317	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1268898	50678317	84856430	308	21996										
MBL2	4153	hgsc.bcm.edu	37	chr10	54528266	54528266	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtttgcccagagagaaggtGagccctaaaatgtgaaaaag	12	6	0	4	rs930507	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:54528266G>C	ENST00000373968.3	-	4	442	c.378C>G	c.(376-378)ctC>ctG	p.L126L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	126					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGAGAAGGTGAGCCCTAAAA	0.423													C|||	3700	0.738818	0.6399	0.8559	5008	,	,		18473	0.7302		0.8032	False		,,,				2504	0.7321				p.L126L		Atlas-SNP	.											MBL2,colon,carcinoma,0,1	MBL2	55	1	0			c.C378G	GRCh37	CM068190	MBL2	M	rs930507	scavenged	.	C		2926,1478	467.4+/-354.8	994,938,270	73	78	76		378	-4.6	0	10	dbSNP_86	76	7095,1505	281.8+/-295.3	2935,1225,140	no	coding-synonymous	MBL2	NM_000242.2		3929,2163,410	CC,CG,GG		17.5,33.5604,22.9391		126/249	54528266	10021,2983	2202	4300	6502	SO:0001819	synonymous_variant	4153	exon4			GAAGGTGAGCCCT	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.378C>G	10.37:g.54528266G>C		Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	58	2	0.0344828	NM_000242	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	CCDS7247.1																																																																																			G|0.238;C|0.762	0.762	strong		0.423	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		C	54528266	G	C	54528266	2	2	27	1	0	0	0	0	0	0	0	1	9350	1277	45	4		4	MBL2	10	54528266	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3849949	54528266	81006481	309	21997										
ADAMTS14	140766	hgsc.bcm.edu	37	chr10	72503344	72503344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atctgccagtcggcggacacGggggacgtggtgttcatgaa	16	9	2	1	rs10999502	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:72503344G>A	ENST00000373207.1	+	13	1965	c.1965G>A	c.(1963-1965)acG>acA	p.T655T	ADAMTS14_ENST00000373208.1_Silent_p.T658T	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	655	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGCGGACACGGGGGACGTGG	0.622													G|||	1560	0.311502	0.1641	0.2089	5008	,	,		19688	0.5387		0.2167	False		,,,				2504	0.4468				p.T658T		Atlas-SNP	.											ADAMTS14,NS,adenoma,0,1	ADAMTS14	148	1	0			c.G1974A						scavenged	.	G	,	760,3646	308.0+/-290.3	51,658,1494	95	76	82		1965,1974	-10	0.4	10	dbSNP_120	82	1824,6776	328.1+/-318.2	192,1440,2668	no	coding-synonymous,coding-synonymous	ADAMTS14	NM_080722.3,NM_139155.2	,	243,2098,4162	AA,AG,GG		21.2093,17.2492,19.8678	,	655/1224,658/1227	72503344	2584,10422	2203	4300	6503	SO:0001819	synonymous_variant	140766	exon13			GGACACGGGGGAC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1965G>A	10.37:g.72503344G>A		Somatic	111	1	0.00900901		WXS	Illumina HiSeq	Phase_I	134	7	0.0522388	NM_139155	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																			G|0.768;A|0.232	0.232	strong		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72503344	G	A	72503344	2	1	27	1	0	0	0	0	0	0	0	1	259	1103	39	1		1	ADAMTS14	10	72503344	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17975078	72503344	63031403	310	21998										
CDH23	64072	hgsc.bcm.edu	37	chr10	73466709	73466709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccggccgtgtacaatgtgtcTgtgtccgaggacgtgccacg	14	12	1	0	rs10823829	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:73466709T>C	ENST00000224721.6	+	25	3029	c.3024T>C	c.(3022-3024)tcT>tcC	p.S1008S	CDH23_ENST00000299366.7_Silent_p.S1048S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1003	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAATGTGTCTGTGTCCGAGG	0.637													C|||	1039	0.207468	0.4062	0.1513	5008	,	,		19342	0.2698		0.0348	False		,,,				2504	0.092				p.S1003S		Atlas-SNP	.											.	CDH23	365	.	0			c.T3009C						PASS	.	C	,,	1436,2890		225,986,952	43	54	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3009,3009,3009	-4.1	0.7	10	dbSNP_120	51	277,8211		5,267,3972	no	coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	,,	230,1253,4924	CC,CT,TT		3.2634,33.1946,13.3682	,,	1003/1382,1003/1062,1003/3355	73466709	1713,11101	2163	4244	6407	SO:0001819	synonymous_variant	64072	exon25			TGTGTCTGTGTCC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.3024T>C	10.37:g.73466709T>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	120	8	0.0666667	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				T|0.793;C|0.207	0.207	strong		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73466709	T	C	73466709	2	2	27	1	0	0	0	0	0	0	0	1	3108	1567	55	3		3	CDH23	10	73466709	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	963365	73466709	62068038	311	21999										
ECD	11319	hgsc.bcm.edu	37	chr10	74897816	74897816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcatcaaaagtgattggagcCtcagaaggttctctgcaata	10	8	3	2	rs2271905	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:74897816C>T	ENST00000372979.4	-	12	1640	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E	ECD_ENST00000454759.2_Silent_p.E435E|ECD_ENST00000430082.2_Silent_p.E511E	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	478					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E478E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TGATTGGAGCCTCAGAAGGTT	0.308													T|||	1180	0.235623	0.3676	0.1239	5008	,	,		17095	0.3145		0.0596	False		,,,				2504	0.2362				p.E511E		Atlas-SNP	.											ECD,NS,carcinoma,0,1	ECD	50	1	1	Substitution - coding silent(1)	stomach(1)	c.G1533A						scavenged	.	T	,,	1422,2984	667.3+/-401.8	226,970,1007	53	52	52		1533,1305,1434	-0.3	0.9	10	dbSNP_100	52	613,7987	784.4+/-407.6	30,553,3717	no	coding-synonymous,coding-synonymous,coding-synonymous	ECD	NM_001135752.1,NM_001135753.1,NM_007265.2	,,	256,1523,4724	TT,TC,CC		7.1279,32.2742,15.6466	,,	511/678,435/602,478/645	74897816	2035,10971	2203	4300	6503	SO:0001819	synonymous_variant	11319	exon13			TGGAGCCTCAGAA	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1434G>A	10.37:g.74897816C>T		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	251	10	0.0398406	NM_001135752	C9JX46|E9PAW8	Silent	SNP	ENST00000372979.4	37	CCDS7321.1																																																																																			C|0.809;T|0.191	0.191	strong		0.308	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		T	74897816	C	T	74897816	2	4	27	1	0	0	0	0	0	0	0	1	4888	680	24	2		2	ECD	10	74897816	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1431107	74897816	60636931	312	22000										
DNAJC9	23234	hgsc.bcm.edu	37	chr10	75006804	75006804	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgtcctccttgtcgccctcAcccacccggtccgggtgtac	10	19	1	0	rs35302968	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:75006804A>G	ENST00000372950.4	-	1	1816	c.144T>C	c.(142-144)ggT>ggC	p.G48G	MRPS16_ENST00000416782.2_3'UTR|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	48	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGTCGCCCTCACCCACCCGGT	0.706													G|||	1158	0.23123	0.351	0.1239	5008	,	,		10508	0.3105		0.0636	False		,,,				2504	0.2362				p.G48G		Atlas-SNP	.											.	DNAJC9	19	.	0			c.T144C						PASS	.	G		1190,3186		166,858,1164	11	11	11		144	1	1	10	dbSNP_126	11	551,8003		24,503,3750	no	coding-synonymous	DNAJC9	NM_015190.3		190,1361,4914	GG,GA,AA		6.4414,27.1938,13.4648		48/261	75006804	1741,11189	2188	4277	6465	SO:0001819	synonymous_variant	23234	exon1			GCCCTCACCCACC	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"Heat shock proteins / DNAJ (HSP40)"	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.144T>C	10.37:g.75006804A>G		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	117	7	0.0598291	NM_015190	B2RMW6	Silent	SNP	ENST00000372950.4	37	CCDS7322.1																																																																																			A|0.827;G|0.173	0.173	strong		0.706	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190		G	75006804	A	G	75006804	2	3	27	1	0	0	0	0	0	0	0	1	4656	146	6	2		2	DNAJC9	10	75006804	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	108988	75006804	60527943	313	22001										
TTC18	118491	hgsc.bcm.edu	37	chr10	75035257	75035257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcctctgccttggcaaagtTcttcttaagaatgtgtgttt	8	8	3	1	rs4294502	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:75035257T>C	ENST00000310715.3	-	23	2950	c.2830A>G	c.(2830-2832)Aac>Gac	p.N944D	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.N944D|TTC18_ENST00000355577.3_Missense_Mutation_p.N413D|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.N944D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		944			N -> D (in dbSNP:rs4294502).			extracellular vesicular exosome (GO:0070062)		p.N944D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGCAAAGTTCTTCTTAAGA	0.478													C|||	1149	0.229433	0.3525	0.1239	5008	,	,		18523	0.3105		0.0636	False		,,,				2504	0.2249				p.N944D		Atlas-SNP	.											TTC18,NS,carcinoma,0,1	TTC18	106	1	1	Substitution - Missense(1)	stomach(1)	c.A2830G						PASS	.	C	ASP/ASN	1382,3024	689.1+/-405.1	214,954,1035	226	213	217		2830	5.9	1	10	dbSNP_111	217	618,7982	791.7+/-407.5	31,556,3713	yes	missense	TTC18	NM_145170.3	23	245,1510,4748	CC,CT,TT		7.186,31.3663,15.3775	benign	944/1122	75035257	2000,11006	2203	4300	6503	SO:0001583	missense	118491	exon23			CAAAGTTCTTCTT																												ENST00000310715.3:c.2830A>G	10.37:g.75035257T>C	ENSP00000310829:p.Asn944Asp	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	138	7	0.0507246	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	457	0.20924908424908426	187	0.3800813008130081	40	0.11049723756906077	183	0.31993006993006995	47	0.06200527704485488	C	7.528	0.658154	0.14645	0.313663	0.07186	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.62105	0.05;0.05;0.34;0.34	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.109437	0.64402	N	0.000010	T	0.00012	0.0000	N	0.01874	-0.695	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	9	0.02654	T	1	-2.9252	13.0531	0.58966	0.0:0.9225:0.0:0.0775	rs4294502;rs52829733;rs61409923;rs4294502	944	Q5T0N1	TTC18_HUMAN	D	944;944;944;351;944	ENSP00000310829:N944D;ENSP00000384479:N944D;ENSP00000409527:N351D;ENSP00000378334:N944D	ENSP00000310829:N944D	N	-	1	0	TTC18	74705263	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.353000	0.44089	1.510000	0.48803	-0.119000	0.15052	AAC	T|0.811;C|0.189	0.189	strong		0.478	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75035257	T	C	75035257	3	2	27	1	0	0	0	0	1	0	0	0	16682	1783	62	2	559	2	TTC18	10	75035257	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	28453	75035257	60499490	314	22002										
TTC18	118491	hgsc.bcm.edu	37	chr10	75056863	75056863	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agctcactgataaatgtctgAagttcctcctggctttcaaa	7	10	3	2	rs6480692	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:75056863A>C	ENST00000310715.3	-	16	1911	c.1791T>G	c.(1789-1791)ctT>ctG	p.L597L	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.L597L|TTC18_ENST00000355577.3_Silent_p.L66L|TTC18_ENST00000401621.2_Silent_p.L597L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		597						extracellular vesicular exosome (GO:0070062)		p.L597L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TAAATGTCTGAAGTTCCTCCT	0.403													C|||	890	0.177716	0.177	0.0994	5008	,	,		19536	0.3105		0.0547	False		,,,				2504	0.2239				p.L597L		Atlas-SNP	.											TTC18,NS,carcinoma,-2,2	TTC18	106	2	1	Substitution - coding silent(1)	stomach(1)	c.T1791G						scavenged	.	C		659,3747	764.7+/-413.3	56,547,1600	222	199	207		1791	0	1	10	dbSNP_116	207	573,8027	793.6+/-407.5	27,519,3754	no	coding-synonymous	TTC18	NM_145170.3		83,1066,5354	CC,CA,AA		6.6628,14.9569,9.4726		597/1122	75056863	1232,11774	2203	4300	6503	SO:0001819	synonymous_variant	118491	exon16			TGTCTGAAGTTCC																												ENST00000310715.3:c.1791T>G	10.37:g.75056863A>C		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	110	3	0.0272727	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	CCDS7324.3																																																																																			A|0.870;C|0.130	0.130	strong		0.403	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75056863	A	C	75056863	2	2	27	1	0	0	0	0	0	0	0	1	16682	233	9	5		5	TTC18	10	75056863	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	21606	75056863	60477884	315	22003										
FAM22A	728118	hgsc.bcm.edu	37	chr10	88992641	88992641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccgagaaacaacgggaagagGgcgaagtgaagcagccacag	15	9	0	3	rs145500179	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:88992641G>A	ENST00000381707.2	+	5	2016	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S	NUTM2A-AS1_ENST00000456104.1_RNA|NUTM2A_ENST00000381689.4_Missense_Mutation_p.G545S|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	545																	ACGGGAAGAGGGCGAAGTGAA	0.617													.|||	3976	0.79393	0.6974	0.8256	5008	,	,		17238	0.9563		0.7734	False		,,,				2504	0.7556				p.G545S		Atlas-SNP	.											FAM22D,colon,carcinoma,-2,2	FAM22A	20	2	0			c.G1633A						scavenged	.						7	9	8					10																	88992641		1545	3107	4652	SO:0001583	missense	728118	exon5			GAAGAGGGCGAAG		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"family with sequence similarity 22, member A"	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.1633G>A	10.37:g.88992641G>A	ENSP00000371126:p.Gly545Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	97	8	0.0824742	NM_001099338	A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	CCDS44452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.454|8.454	0.853843|0.853843	0.17106|0.17106	.|.	.|.	ENSG00000184923|ENSG00000184923	ENST00000451286|ENST00000381689;ENST00000381707;ENST00000416901;ENST00000432986	.|T;T	.|0.24723	.|1.84;2.64	1.18|1.18	1.18|1.18	0.20946|0.20946	.|Nuclear Testis protein, C-terminal (1);	1.216050|1.216050	0.05733|0.05733	N|N	0.599879|0.599879	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	P|P	0.0|0.0	.|P	.|0.43287	.|0.802	.|B	.|0.42959	.|0.403	T|T	0.31558|0.31558	-0.9939|-0.9939	5|9	.|0.37606	.|T	.|0.19	.|.	5.8963|5.8963	0.18941|0.18941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|545	.|Q8IVF1	.|FA22A_HUMAN	E|S	322|545;545;472;22	.|ENSP00000371107:G545S;ENSP00000371126:G545S	.|ENSP00000371107:G545S	G|G	+|+	2|1	0|0	FAM22A|FAM22A	88982621|88982621	0.007000|0.007000	0.16637|0.16637	0.006000|0.006000	0.13384|0.13384	0.008000|0.008000	0.06430|0.06430	2.120000|2.120000	0.41968|0.41968	1.015000|1.015000	0.39444|0.39444	0.374000|0.374000	0.22700|0.22700	GGG|GGC	G|0.250;A|0.750	0.750	strong		0.617	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		A	88992641	G	A	88992641	3	1	27	1	0	0	0	0	1	0	0	0	5543	1232	43	2	1651	2	FAM22A	10	88992641	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	13935778	88992641	46542106	316	22004										
PANK1	53354	hgsc.bcm.edu	37	chr10	91371689	91371689	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attagaagtcaaatacttccGgatgctcttcaggttctcca	7	10	4	1	rs545008942		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:91371689G>T	ENST00000307534.4	-	2	975	c.820C>A	c.(820-822)Cgg>Agg	p.R274R	PANK1_ENST00000371774.2_Silent_p.R76R|PANK1_ENST00000342512.3_Silent_p.R49R|PANK1_ENST00000322191.6_Silent_p.R49R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	274					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						AAATACTTCCGGATGCTCTTC	0.483																																					p.R274R		Atlas-SNP	.											PANK1,NS,carcinoma,+1,1	PANK1	35	1	0			c.C820A						scavenged	.						113	103	106					10																	91371689		2203	4300	6503	SO:0001819	synonymous_variant	53354	exon2			ACTTCCGGATGCT	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.820C>A	10.37:g.91371689G>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	83	2	0.0240964	NM_148977	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																			.	.	none		0.483	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	91371689	G	T	91371689	2	4	27	1	0	0	0	0	0	0	0	1	11416	1115	39	4		4	PANK1	10	91371689	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2379048	91371689	44163058	317	22005										
KIF20B	9585	hgsc.bcm.edu	37	chr10	91470834	91470834	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atagatccagagaatacttaAggttatcatcagaacaagag	8	6	2	4	rs1048057	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:91470834A>C	ENST00000371728.3	+	6	672	c.607A>C	c.(607-609)Agg>Cgg	p.R203R	KIF20B_ENST00000416354.1_Silent_p.R203R|KIF20B_ENST00000394289.2_Silent_p.R203R|KIF20B_ENST00000260753.4_Silent_p.R203R	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.R203R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAATACTTAAGGTTATCATC	0.323													C|||	2321	0.463458	0.5749	0.3847	5008	,	,		20058	0.5665		0.2396	False		,,,				2504	0.4928				p.R203R		Atlas-SNP	.											KIF20B,NS,carcinoma,0,1	KIF20B	191	1	1	Substitution - coding silent(1)	stomach(1)	c.A607C						scavenged	.	C		2405,2001	551.7+/-378.3	654,1097,452	67	72	70		607	3.5	1	10	dbSNP_86	70	2076,6522	715.3+/-406.0	237,1602,2460	no	coding-synonymous	KIF20B	NM_016195.2		891,2699,2912	CC,CA,AA		24.1452,45.4153,34.4586		203/1781	91470834	4481,8523	2203	4299	6502	SO:0001819	synonymous_variant	9585	exon6			TACTTAAGGTTAT	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.607A>C	10.37:g.91470834A>C		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	205	6	0.0292683	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37																																																																																				A|0.632;C|0.368	0.368	strong		0.323	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91470834	A	C	91470834	2	2	27	1	0	0	0	0	0	0	0	1	8287	63	3	5		5	KIF20B	10	91470834	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	99145	91470834	44063913	318	22006										
KIF20B	9585	hgsc.bcm.edu	37	chr10	91503660	91503660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctcaggaattagatatgaaAcagcgaaccattcagcaact	7	9	2	2	rs1126480	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:91503660A>G	ENST00000371728.3	+	22	4076	c.4011A>G	c.(4009-4011)aaA>aaG	p.K1337K	KIF20B_ENST00000416354.1_Silent_p.K1367K|KIF20B_ENST00000394289.2_Silent_p.K1337K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.K1297K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1337					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAGATATGAAACAGCGAACCA	0.308													A|||	1772	0.353834	0.4697	0.2147	5008	,	,		14368	0.3085		0.2326	False		,,,				2504	0.4673				p.K1297K		Atlas-SNP	.											KIF20B_ENST00000416354,adrenal_gland,adrenal_cortical_adenoma,0,2	KIF20B	191	2	0			c.A3891G						scavenged	.	A		2024,2380	550.2+/-378.0	472,1080,650	81	92	88		3891	5.4	1	10	dbSNP_86	88	2002,6596	347.3+/-326.5	221,1560,2518	no	coding-synonymous	KIF20B	NM_016195.2		693,2640,3168	GG,GA,AA		23.2845,45.9582,30.9645		1297/1781	91503660	4026,8976	2202	4299	6501	SO:0001819	synonymous_variant	9585	exon22			TATGAAACAGCGA	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4011A>G	10.37:g.91503660A>G		Somatic	501	0	0		WXS	Illumina HiSeq	Phase_I	498	10	0.0200803	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37																																																																																				A|0.701;G|0.299	0.299	strong		0.308	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91503660	A	G	91503660	2	3	27	1	0	0	0	0	0	0	0	1	8287	40	2	2		2	KIF20B	10	91503660	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	32826	91503660	44031087	319	22007										
PLCE1	51196	hgsc.bcm.edu	37	chr10	95791613	95791613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttgctttgaaggctcttgTgagaaggttgacatggtata	12	4	1	3	rs17109671	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:95791613T>C	ENST00000371380.3	+	1	1045	c.810T>C	c.(808-810)tgT>tgC	p.C270C	PLCE1_ENST00000260766.3_Silent_p.C270C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	270					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGGCTCTTGTGAGAAGGTTG	0.393													C|||	2306	0.460463	0.7799	0.2608	5008	,	,		20815	0.4792		0.3032	False		,,,				2504	0.3129				p.C270C		Atlas-SNP	.											PLCE1_ENST00000260766,colon,carcinoma,0,2	PLCE1	543	2	0			c.T810C						scavenged	.	C		2599,1237		883,833,202	127	122	124		810	3.1	0.7	10	dbSNP_123	124	2192,6054		286,1620,2217	no	coding-synonymous	PLCE1	NM_016341.3		1169,2453,2419	CC,CT,TT		26.5826,32.2471,39.654		270/2303	95791613	4791,7291	1918	4123	6041	SO:0001819	synonymous_variant	51196	exon2			CTCTTGTGAGAAG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.810T>C	10.37:g.95791613T>C		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	169	4	0.0236686	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			T|0.609;C|0.391	0.391	strong		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		C	95791613	T	C	95791613	2	2	27	1	0	0	0	0	0	0	0	1	12034	1702	59	2		2	PLCE1	10	95791613	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	4287953	95791613	39743134	320	22008										
CWF19L1	55280	hgsc.bcm.edu	37	chr10	102006625	102006625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagggttttcagtgacatccGgaggctgttttaccagttct	11	8	2	1	rs7073610	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:102006625G>A	ENST00000354105.4	-	8	862	c.776C>T	c.(775-777)cCg>cTg	p.P259L	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P14L	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	259			P -> L (in dbSNP:rs7073610).				catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGTGACATCCGGAGGCTGTTT	0.428													G|||	401	0.0800719	0.1233	0.0519	5008	,	,		18841	0.0615		0.0487	False		,,,				2504	0.093				p.P259L		Atlas-SNP	.											.	CWF19L1	39	.	0			c.C776T						PASS	.	G	LEU/PRO	420,3986	204.5+/-226.7	23,374,1806	93	85	87		776	4.6	1	10	dbSNP_116	87	398,8202	127.2+/-185.5	6,386,3908	yes	missense	CWF19L1	NM_018294.4	98	29,760,5714	AA,AG,GG		4.6279,9.5325,6.2894	benign	259/539	102006625	818,12188	2203	4300	6503	SO:0001583	missense	55280	exon8			ACATCCGGAGGCT	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.776C>T	10.37:g.102006625G>A	ENSP00000326411:p.Pro259Leu	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	149	8	0.0536913	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	CCDS7489.1	151	0.06913919413919414	49	0.09959349593495935	23	0.06353591160220995	38	0.06643356643356643	41	0.05408970976253298	G	14.05	2.420734	0.42918	0.095325	0.046279	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.29397	1.57;1.57	5.56	4.6	0.57074	.	0.102462	0.64402	D	0.000003	T	0.00580	0.0019	L	0.46157	1.445	0.20638	P	0.999874243	B;B	0.22211	0.066;0.05	B;B	0.14023	0.009;0.01	T	0.04607	-1.0939	9	0.25751	T	0.34	-7.4526	6.4374	0.21831	0.0897:0.0:0.7284:0.1818	rs7073610;rs56524184;rs58651039;rs7073610	122;259	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	L	259;14	ENSP00000326411:P259L;ENSP00000359405:P14L	ENSP00000326411:P259L	P	-	2	0	CWF19L1	101996615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.511000	0.45476	2.634000	0.89283	0.561000	0.74099	CCG	G|0.930;A|0.070	0.070	strong		0.428	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		A	102006625	G	A	102006625	3	1	27	1	0	0	0	0	1	0	0	0	4071	1116	39	1	868	1	CWF19L1	10	102006625	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6215012	102006625	33528122	321	22009										
CWF19L1	55280	hgsc.bcm.edu	37	chr10	102016044	102016044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aattcccaaagttccccacaCacttgggccatggggatgtg	10	12	0	0	rs2270962	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:102016044C>T	ENST00000354105.4	-	5	565	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	RNU6-422P_ENST00000384632.1_RNA|CWF19L1_ENST00000478047.1_5'Flank	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	160			C -> Y (in dbSNP:rs2270962).				catalytic activity (GO:0003824)	p.C160Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTTCCCCACACACTTGGGCCA	0.423													T|||	1257	0.250998	0.5998	0.1311	5008	,	,		18538	0.1419		0.0775	False		,,,				2504	0.1554				p.C160Y		Atlas-SNP	.											CWF19L1,NS,carcinoma,0,1	CWF19L1	39	1	1	Substitution - Missense(1)	stomach(1)	c.G479A						scavenged	.	T	TYR/CYS	2270,2136	579.1+/-384.8	590,1090,523	129	121	124		479	4.8	1	10	dbSNP_100	124	569,8031	793.7+/-407.5	19,531,3750	yes	missense	CWF19L1	NM_018294.4	194	609,1621,4273	TT,TC,CC		6.6163,48.4793,21.8284	benign	160/539	102016044	2839,10167	2203	4300	6503	SO:0001583	missense	55280	exon5			CCCACACACTTGG	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.479G>A	10.37:g.102016044C>T	ENSP00000326411:p.Cys160Tyr	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	153	7	0.0457516	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	CCDS7489.1	475	0.2174908424908425	277	0.5630081300813008	47	0.1298342541436464	84	0.14685314685314685	67	0.08839050131926121	T	11.57	1.677721	0.29783	0.515207	0.066163	ENSG00000095485	ENST00000354105	T	0.27402	1.67	6.16	4.85	0.62838	.	0.261247	0.44483	N	0.000453	T	0.00012	0.0000	N	0.01352	-0.895	0.52501	P	4.499999999996174E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39502	-0.9611	9	0.32370	T	0.25	-3.1421	9.637	0.39814	0.0:0.1624:0.0:0.8376	rs2270962;rs52822289;rs59268290;rs2270962	23;160	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	Y	160	ENSP00000326411:C160Y	ENSP00000326411:C160Y	C	-	2	0	CWF19L1	102006034	0.996000	0.38824	0.998000	0.56505	0.940000	0.58332	1.883000	0.39658	1.152000	0.42452	-0.269000	0.10298	TGT	C|0.775;T|0.225	0.225	strong		0.423	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		T	102016044	C	T	102016044	3	4	27	1	0	0	0	0	1	0	0	0	4071	478	17	2	1177	2	CWF19L1	10	102016044	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	9419	102016044	33518703	322	22010										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108380213	108380213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgtttccgtaccaccacacGtaagtgagggtgcccacttg	10	12	0	1	rs4917481	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:108380213G>A	ENST00000263054.6	-	20	2776	c.2769C>T	c.(2767-2769)taC>taT	p.Y923Y	SORCS1_ENST00000344440.6_Silent_p.Y923Y|SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000369698.1_Silent_p.Y458Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	923					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCACCACACGTAAGTGAGGG	0.547													A|||	1883	0.375998	0.4682	0.2435	5008	,	,		12097	0.5069		0.171	False		,,,				2504	0.4213				p.Y923Y		Atlas-SNP	.											.	SORCS1	534	.	0			c.C2769T						PASS	.	A	,,,,,	1883,2523	630.4+/-395.5	403,1077,723	170	136	147		2769,2769,2769,2769,2769,2769	-3.2	0.8	10	dbSNP_111	147	1450,7150	751.3+/-407.4	117,1216,2967	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	520,2293,3690	AA,AG,GG		16.8605,42.7372,25.6266	,,,,,	923/1199,923/1180,923/1131,923/1160,923/1180,923/1169	108380213	3333,9673	2203	4300	6503	SO:0001819	synonymous_variant	114815	exon20			CCACACGTAAGTG	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2769C>T	10.37:g.108380213G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	60	6	0.1	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			G|0.707;A|0.293	0.293	strong		0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108380213	G	A	108380213	2	1	27	1	0	0	0	0	0	0	0	1	14930	1140	40	1		1	SORCS1	10	108380213	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6364169	108380213	27154534	323	22011										
NRAP	4892	hgsc.bcm.edu	37	chr10	115377290	115377290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tactggtaaacttcaaagcaTctggatgctgacggtacttc	9	9	2	1	rs77678145	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:115377290T>C	ENST00000359988.3	-	26	3141	c.2897A>G	c.(2896-2898)gAt>gGt	p.D966G	NRAP_ENST00000369360.3_Missense_Mutation_p.D939G|NRAP_ENST00000360478.3_Missense_Mutation_p.D931G|NRAP_ENST00000369358.4_Missense_Mutation_p.D974G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTCAAAGCATCTGGATGCTG	0.388													T|||	351	0.0700879	0.0008	0.0677	5008	,	,		19691	0.1528		0.0825	False		,,,				2504	0.0675				p.D966G		Atlas-SNP	.											.	NRAP	208	.	0			c.A2897G						PASS	.	T	GLY/ASP,GLY/ASP	80,4326	69.8+/-107.6	1,78,2124	143	137	139		2792,2897	4.9	1	10	dbSNP_131	139	751,7849	180.3+/-229.3	37,677,3586	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	94,94	38,755,5710	CC,CT,TT		8.7326,1.8157,6.3894	benign,benign	931/1696,966/1731	115377290	831,12175	2203	4300	6503	SO:0001583	missense	4892	exon26			AAAGCATCTGGAT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2897A>G	10.37:g.115377290T>C	ENSP00000353078:p.Asp966Gly	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	154	0.07051282051282051	2	0.0040650406504065045	24	0.06629834254143646	65	0.11363636363636363	63	0.08311345646437995	T	13.95	2.390625	0.42410	0.018157	0.087326	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18174	2.43;2.46;2.32;2.23	6.17	4.86	0.63082	.	0.251467	0.48286	D	0.000187	T	0.00328	0.0010	L	0.43152	1.355	0.33783	P	0.375452	B;B;B	0.25719	0.081;0.132;0.007	B;B;B	0.32624	0.071;0.149;0.011	T	0.07121	-1.0789	9	0.48119	T	0.1	.	8.7616	0.34678	0.0:0.0729:0.1303:0.7969	.	966;931;966	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	G	974;939;966;931	ENSP00000358365:D974G;ENSP00000358367:D939G;ENSP00000353078:D966G;ENSP00000353666:D931G	ENSP00000353078:D966G	D	-	2	0	NRAP	115367280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.967000	0.29344	2.371000	0.80710	0.533000	0.62120	GAT	A|0.000;C|0.068;T|0.932	0.068	strong		0.388	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115377290	T	C	115377290	3	2	27	1	0	0	0	0	1	0	0	0	10638	1435	50	2	2363	2	NRAP	10	115377290	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	6997077	115377290	20157457	324	22012										
NRAP	4892	hgsc.bcm.edu	37	chr10	115410234	115410234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggctcttttggctatctgaTaggcgggtgtgatcatcgca	13	8	3	2	rs2185913	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:115410234T>C	ENST00000359988.3	-	8	990	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	NRAP_ENST00000369360.3_Missense_Mutation_p.Y249C|NRAP_ENST00000360478.3_Missense_Mutation_p.Y249C|NRAP_ENST00000369358.4_Missense_Mutation_p.Y249C	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.Y249C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTATCTGATAGGCGGGTGT	0.458													T|||	1019	0.203474	0.0182	0.245	5008	,	,		22449	0.3343		0.3012	False		,,,				2504	0.1892				p.Y249C		Atlas-SNP	.											NRAP,NS,carcinoma,0,1	NRAP	208	1	1	Substitution - Missense(1)	stomach(1)	c.A746G						scavenged	.	T	CYS/TYR,CYS/TYR	256,4150	148.0+/-182.4	12,232,1959	193	156	169		746,746	6.2	1	10	dbSNP_96	169	2512,6088	411.5+/-350.5	351,1810,2139	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	194,194	363,2042,4098	CC,CT,TT		29.2093,5.8103,21.2825	probably-damaging,probably-damaging	249/1696,249/1731	115410234	2768,10238	2203	4300	6503	SO:0001583	missense	4892	exon8			ATCTGATAGGCGG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.746A>G	10.37:g.115410234T>C	ENSP00000353078:p.Tyr249Cys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	129	5	0.0387597	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	531	0.24313186813186813	14	0.028455284552845527	100	0.27624309392265195	199	0.3479020979020979	218	0.287598944591029	T	24.3	4.512888	0.85389	0.058103	0.292093	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.20463	2.32;2.25;2.18;2.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.79123	2.44	0.18873	P	0.9999877178	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.10683	-1.0619	9	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	rs2185913;rs17773512;rs59388325;rs2185913	249;249	Q86VF7-4;Q86VF7	.;NRAP_HUMAN	C	249	ENSP00000358365:Y249C;ENSP00000358367:Y249C;ENSP00000353078:Y249C;ENSP00000353666:Y249C	ENSP00000353078:Y249C	Y	-	2	0	NRAP	115400224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.283000	0.78640	2.371000	0.80710	0.533000	0.62120	TAT	T|0.781;C|0.219	0.219	strong		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115410234	T	C	115410234	3	2	27	1	0	0	0	0	1	0	0	0	10638	1406	49	2	4586	2	NRAP	10	115410234	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	32944	115410234	20124513	325	22013										
VWA2	340706	hgsc.bcm.edu	37	chr10	116014769	116014769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaaggtccaagcactttgccAtcacagtctgtgacggtctg	10	11	3	1	rs75028145	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:116014769A>T	ENST00000392982.3	+	4	473	c.223A>T	c.(223-225)Atc>Ttc	p.I75F	VWA2_ENST00000603594.1_Missense_Mutation_p.I75F			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	75	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.I75F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCACTTTGCCATCACAGTCTG	0.527													A|||	69	0.013778	0.0	0.0173	5008	,	,		20776	0.0526		0.003	False		,,,				2504	0.001				p.I75F		Atlas-SNP	.											VWA2,NS,carcinoma,0,1	VWA2	64	1	1	Substitution - Missense(1)	stomach(1)	c.A223T						scavenged	.	A	PHE/ILE	2,4404	2.1+/-5.4	0,2,2201	219	187	198		223	-0.4	0.9	10	dbSNP_131	198	2,8598	2.2+/-6.3	0,2,4298	yes	missense	VWA2	NM_198496.1	21	0,4,6499	TT,TA,AA		0.0233,0.0454,0.0308	possibly-damaging	75/726	116014769	4,13002	2203	4300	6503	SO:0001583	missense	340706	exon4			TTTGCCATCACAG	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.223A>T	10.37:g.116014769A>T	ENSP00000376708:p.Ile75Phe	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	106	4	0.0377358	NM_001272046	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		40	0.018315018315018316	0	0.0	5	0.013812154696132596	33	0.057692307692307696	2	0.002638522427440633	A	20.5	3.995310	0.74703	4.54E-4	2.33E-4	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83591	-1.74	6.17	-0.389	0.12455	von Willebrand factor, type A (3);	1.055100	0.07318	N	0.877040	T	0.39064	0.1064	M	0.77103	2.36	0.34861	D	0.742667	P;P	0.51653	0.947;0.935	B;B	0.44044	0.439;0.401	T	0.67776	-0.5583	10	0.37606	T	0.19	.	5.0751	0.14626	0.5149:0.2686:0.2165:0.0	.	75;75	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	F	75	ENSP00000376708:I75F	ENSP00000298715:I75F	I	+	1	0	VWA2	116004759	0.012000	0.17670	0.907000	0.35723	0.991000	0.79684	-0.575000	0.05861	-0.071000	0.12886	-0.290000	0.09829	ATC	A|0.994;T|0.006	0.006	strong		0.527	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		T	116014769	A	T	116014769	3	4	27	1	0	0	0	0	1	0	0	0	17236	217	8	5	233	5	VWA2	10	116014769	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	604535	116014769	19519978	326	22014										
RAB11FIP2	22841	hgsc.bcm.edu	37	chr10	119774598	119774598	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggattttcctgaggtcttcaTtgcttgttggactcatatga	10	7	3	2	rs58533443	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:119774598T>A	ENST00000355624.3	-	4	1728	c.1289A>T	c.(1288-1290)aAt>aTt	p.N430I	RP11-354M20.3_ENST00000595446.1_RNA|RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.N450I|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	430					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GAGGTCTTCATTGCTTGTTGG	0.358													T|||	309	0.0617013	0.0431	0.072	5008	,	,		17272	0.1806		0.006	False		,,,				2504	0.0143				p.N430I		Atlas-SNP	.											.	RAB11FIP2	39	.	0			c.A1289T						PASS	.	T	ILE/ASN	188,4218	118.8+/-156.5	4,180,2019	90	85	87		1289	-3.6	1	10	dbSNP_129	87	42,8558	27.9+/-77.7	0,42,4258	yes	missense	RAB11FIP2	NM_014904.2	149	4,222,6277	AA,AT,TT		0.4884,4.2669,1.7684	benign	430/513	119774598	230,12776	2203	4300	6503	SO:0001583	missense	22841	exon4			TCTTCATTGCTTG	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1289A>T	10.37:g.119774598T>A	ENSP00000347839:p.Asn430Ile	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	122	7	0.057377	NM_014904	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	149	0.06822344322344322	16	0.032520325203252036	18	0.049723756906077346	112	0.1958041958041958	3	0.00395778364116095	T	14.14	2.446920	0.43429	0.042669	0.004884	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.63913	-0.07;-0.05	5.92	-3.59	0.04583	.	1.103000	0.06527	N	0.740675	T	0.00039	0.0001	N	0.14661	0.345	0.39854	P	0.02671100000000004	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09143	-1.0688	9	0.49607	T	0.09	-0.1284	9.1794	0.37131	0.0:0.5334:0.2088:0.2578	rs58533443	450;430	Q3I768;Q7L804	.;RFIP2_HUMAN	I	430;450	ENSP00000347839:N430I;ENSP00000358200:N450I	ENSP00000347839:N430I	N	-	2	0	RAB11FIP2	119764588	0.296000	0.24398	0.979000	0.43373	0.990000	0.78478	-0.870000	0.04228	-0.270000	0.09285	0.528000	0.53228	AAT	T|0.967;A|0.033	0.033	strong		0.358	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		A	119774598	T	A	119774598	3	1	27	1	0	0	0	0	1	0	0	0	12894	1493	52	5	257	5	RAB11FIP2	10	119774598	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3759829	119774598	15760149	327	22015										
BTBD16	118663	hgsc.bcm.edu	37	chr10	124096035	124096035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagcacacagacctggaatcTccctctgcggtctacgagca	9	14	3	1	rs3817281	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:124096035T>C	ENST00000260723.4	+	15	1541	c.1290T>C	c.(1288-1290)tcT>tcC	p.S430S	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Silent_p.S431S	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	430										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACCTGGAATCTCCCTCTGCGG	0.572													C|||	2300	0.459265	0.3956	0.4856	5008	,	,		17882	0.6935		0.326	False		,,,				2504	0.4223				p.S430S		Atlas-SNP	.											.	BTBD16	44	.	0			c.T1290C						PASS	.	C		1571,2835	654.3+/-399.7	293,985,925	67	57	60		1290	-6.6	0	10	dbSNP_107	60	2746,5854	670.0+/-402.7	445,1856,1999	no	coding-synonymous	BTBD16	NM_144587.2		738,2841,2924	CC,CT,TT		31.9302,35.6559,33.1924		430/507	124096035	4317,8689	2203	4300	6503	SO:0001819	synonymous_variant	118663	exon15			GGAATCTCCCTCT	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1290T>C	10.37:g.124096035T>C		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	80	5	0.0625	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																			T|0.613;C|0.387	0.387	strong		0.572	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		C	124096035	T	C	124096035	2	2	27	1	0	0	0	0	0	0	0	1	1541	1538	54	3		3	BTBD16	10	124096035	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	4321437	124096035	11438712	328	22016										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	324	3	0.00925926		WXS	Illumina HiSeq	Phase_I	303	4	0.0132013	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	27	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11342898	135438933	95814	329	22017										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	679	21	0.0309278		WXS	Illumina HiSeq	Phase_I	771	30	0.0389105	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	27	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		1016849	133989667	330	22018	441	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	677	21	0.0310192		WXS	Illumina HiSeq	Phase_I	754	29	0.0384615	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	27	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	2	1016851	133989665	331	22019	441	2								
MUC2	4583	hgsc.bcm.edu	37	chr11	1087972	1087972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagacctgcaggaccatcaaCggcatccactccaacatctc	7	16	2	1	rs10902088	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1087972C>T	ENST00000441003.2	+	25	3474	c.3447C>T	c.(3445-3447)aaC>aaT	p.N1149N	MUC2_ENST00000359061.5_Silent_p.N1149N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1149					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)	GGACCATCAACGGCATCCACT	0.622													C|||	1641	0.327676	0.3759	0.3631	5008	,	,		15887	0.3899		0.2167	False		,,,				2504	0.2873				p.N1149N		Atlas-SNP	.											.	MUC2	614	.	0			c.C3447T						PASS	.			1440,2836		247,946,945	56	61	60		3447	-2.9	0	11	dbSNP_120	60	1693,6791		174,1345,2723	no	coding-synonymous	MUC2	NM_002457.2		421,2291,3668	TT,TC,CC		19.9552,33.6763,24.5533		1149/2813	1087972	3133,9627	2138	4242	6380	SO:0001819	synonymous_variant	4583	exon25			CATCAACGGCATC	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.3447C>T	11.37:g.1087972C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	140	10	0.0714286	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				C|0.712;T|0.288	0.288	strong		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1087972	C	T	1087972	2	4	27	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1087972	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	71121	1087972	133918544	332	22020										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1246941	1246941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccctgtggagccgagctgggAgaatgcagggcacaccatgg	16	11	0	1	rs2672785	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1246941A>G	ENST00000529681.1	+	2	159	c.101A>G	c.(100-102)gAg>gGg	p.E34G	MUC5B_ENST00000447027.1_Missense_Mutation_p.E34G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	34			E -> G (in dbSNP:rs2672785). {ECO:0000269|PubMed:11713095, ECO:0000269|PubMed:9804771}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAGCTGGGAGAATGCAGGG	0.642													g|||	1640	0.327476	0.3434	0.2767	5008	,	,		17181	0.4365		0.2406	False		,,,				2504	0.319				p.E34G		Atlas-SNP	.											MUC5B,NS,malignant_melanoma,-1,4	MUC5B	473	4	0			c.A101G						scavenged	.	G	GLY/GLU	1174,2798		178,818,990	26	34	31		101	0	0	11	dbSNP_100	31	1699,6603		201,1297,2653	yes	missense	MUC5B	NM_002458.2	98	379,2115,3643	GG,GA,AA		20.4649,29.5569,23.4072	benign	34/5763	1246941	2873,9401	1986	4151	6137	SO:0001583	missense	727897	exon2			GCTGGGAGAATGC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.101A>G	11.37:g.1246941A>G	ENSP00000436812:p.Glu34Gly	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	248	4	0.016129	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	708	0.3241758241758242	177	0.3597560975609756	108	0.2983425414364641	246	0.43006993006993005	177	0.23350923482849603	G	7.391	0.630737	0.14322	0.295569	0.204649	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20069	2.1;2.29	3.05	0.0329	0.14177	.	.	.	.	.	T	0.00012	0.0000	N	0.04018	-0.295	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47328	-0.9126	8	0.87932	D	0	.	0.5156	0.00603	0.2992:0.2414:0.2905:0.1689	rs2672785;rs61649189;rs2672785	34;660;34	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	34	ENSP00000436812:E34G;ENSP00000415793:E34G	ENSP00000343037:E34G	E	+	2	0	MUC5B	1203517	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.925000	0.03992	-0.216000	0.10048	-0.215000	0.12644	GAG	A|0.673;G|0.327	0.327	strong		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1246941	A	G	1246941	3	3	27	1	0	0	0	0	1	0	0	0	9979	304	11	3	107	3	MUC5B	11	1246941	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	158969	1246941	133759575	333	22021										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1267562	1267562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aactgcagccactggccccaCggccaccccgtcctccaccc	7	23	0	0	rs60268710	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1267562C>T	ENST00000529681.1	+	31	9510	c.9452C>T	c.(9451-9453)aCg>aTg	p.T3151M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3154M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3151	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|TGPTA -> LPHG (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGGCCCCACGGCCACCCCG	0.677													c|||	1706	0.340655	0.2133	0.33	5008	,	,		17737	0.6012		0.2883	False		,,,				2504	0.3057				p.T3151M		Atlas-SNP	.											MUC5AC,NS,carcinoma,-1,1	MUC5B	473	1	0			c.C9452T						scavenged	.	C	MET/THR	782,3294		71,640,1327	53	69	63		9452	-3.5	0	11	dbSNP_129	63	2471,5819		394,1683,2068	no	missense	MUC5B	NM_002458.2	81	465,2323,3395	TT,TC,CC		29.807,19.1855,26.306	possibly-damaging	3151/5763	1267562	3253,9113	2038	4145	6183	SO:0001583	missense	727897	exon31			GCCCCACGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9452C>T	11.37:g.1267562C>T	ENSP00000436812:p.Thr3151Met	Somatic	217	2	0.00921659		WXS	Illumina HiSeq	Phase_I	230	11	0.0478261	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	769	0.35210622710622713	111	0.22560975609756098	107	0.2955801104972376	346	0.6048951048951049	205	0.2704485488126649	c	2.006	-0.428266	0.04701	0.191855	0.29807	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.26	1.73	-3.46	0.04767	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	P;P	0.44260	0.707;0.83	B;B	0.28139	0.029;0.086	T	0.35699	-0.9778	8	0.87932	D	0	.	5.8817	0.18858	0.0:0.1548:0.426:0.4192	rs60268710	3734;3154	A7Y9J9;E9PBJ0	.;.	M	3151;3154;3123;3111	ENSP00000436812:T3151M;ENSP00000415793:T3154M	ENSP00000343037:T3123M	T	+	2	0	MUC5B	1224138	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.828000	0.01702	-1.881000	0.01123	-0.708000	0.03648	ACG	C|0.929;T|0.071	0.071	strong		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1267562	C	T	1267562	3	4	27	1	0	0	0	0	1	0	0	0	9979	536	19	1	9583	1	MUC5B	11	1267562	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	20621	1267562	133738954	334	22022										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1268064	1268064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acaaccacgggcttcacagcCaccccctcctccagcccagg	7	21	1	0	rs200948102	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1268064C>T	ENST00000529681.1	+	31	10012	c.9954C>T	c.(9952-9954)gcC>gcT	p.A3318A	MUC5B_ENST00000447027.1_Silent_p.A3321A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3318	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTTCACAGCCACCCCCTCCT	0.652													c|||	1636	0.326677	0.2156	0.3256	5008	,	,		19867	0.5387		0.2853	False		,,,				2504	0.3016				p.A3318A		Atlas-SNP	.											MUC5B,NS,carcinoma,0,2	MUC5B	473	2	0			c.C9954T						scavenged	.						15	28	24					11																	1268064		1776	4009	5785	SO:0001819	synonymous_variant	727897	exon31			CACAGCCACCCCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9954C>T	11.37:g.1268064C>T		Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	275	5	0.0181818	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.753	-0.051234	0.07407	.	.	ENSG00000117983	ENST00000538459	.	.	.	3.18	0.963	0.19649	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.38908	-0.9639	4	0.02654	T	1	.	6.2137	0.20644	0.3708:0.4477:0.1814:0.0	.	.	.	.	Y	201	.	ENSP00000442622:H201Y	H	+	1	0	MUC5B	1224640	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.998000	0.03701	-0.041000	0.13558	0.305000	0.20034	CAC	C|0.846;T|0.154	0.154	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1268064	C	T	1268064	2	4	27	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC5B	11	1268064	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	502	1268064	133738452	335	22023										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1269835	1269835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacggtgaccccctcctccGtcccggggaccacccacacc	8	23	0	1	rs2943521	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1269835G>A	ENST00000529681.1	+	31	11783	c.11725G>A	c.(11725-11727)Gtc>Atc	p.V3909I	MUC5B_ENST00000447027.1_Missense_Mutation_p.V3912I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3909	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			V -> I (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCTCCTCCGTCCCGGGGAC	0.652													A|||	2311	0.461462	0.3185	0.5418	5008	,	,		14910	0.6567		0.4205	False		,,,				2504	0.4387				p.V3909I		Atlas-SNP	.											.	MUC5B	473	.	0			c.G11725A						PASS	.						90	102	98					11																	1269835		2055	4169	6224	SO:0001583	missense	727897	exon31			TCCTCCGTCCCGG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11725G>A	11.37:g.1269835G>A	ENSP00000436812:p.Val3909Ile	Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	337	15	0.0445104	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	797	0.3649267399267399	99	0.20121951219512196	132	0.36464088397790057	322	0.5629370629370629	244	0.32189973614775724	A	4.241	0.043603	0.08196	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	3.11	-6.22	0.02058	.	.	.	.	.	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.51317	-0.8721	8	0.87932	D	0	.	1.5831	0.02638	0.1585:0.328:0.222:0.2914	rs59902608	4437;3912	A7Y9J9;E9PBJ0	.;.	I	3909;3912;3853;3814	ENSP00000436812:V3909I;ENSP00000415793:V3912I	ENSP00000343037:V3853I	V	+	1	0	MUC5B	1226411	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.108000	0.15396	-4.491000	0.00046	-0.848000	0.03037	GTC	G|0.614;A|0.386	0.386	strong		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1269835	G	A	1269835	3	1	27	1	0	0	0	0	1	0	0	0	9979	1145	40	1	11856	1	MUC5B	11	1269835	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1771	1269835	133736681	336	22024										
KRTAP5-5	439915	hgsc.bcm.edu	37	chr11	1651615	1651615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtccagctgctgtaagccttActgctgccagtccagctgct	10	14	0	0	rs576867883|rs74396270|rs71025765		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1651615A>G	ENST00000399676.2	+	1	583	c.545A>G	c.(544-546)tAc>tGc	p.Y182C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	182	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)|p.Y192_P201delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTAAGCCTTACTGCTGCCAG	0.592																																					p.Y182C		Atlas-SNP	.											KRTAP5-5,NS,carcinoma,0,3	KRTAP5-5	86	3	2	Deletion - In frame(2)	urinary_tract(1)|ovary(1)	c.A545G						scavenged	.						65	74	71					11																	1651615		2200	4292	6492	SO:0001583	missense	439915	exon1			AGCCTTACTGCTG	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.545A>G	11.37:g.1651615A>G	ENSP00000382584:p.Tyr182Cys	Somatic	33	3	0.0909091		WXS	Illumina HiSeq	Phase_I	45	7	0.155556	NM_001001480	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	a	0.771	-0.765830	0.02974	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	3.69	0.448	0.16614	.	.	.	.	.	T	0.00496	0.0016	N	0.00453	-1.485	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.44065	-0.9352	8	0.37606	T	0.19	.	3.2614	0.06850	0.1044:0.1706:0.5496:0.1753	.	182	Q701N2	KRA55_HUMAN	C	182;153	ENSP00000382584:Y182C	ENSP00000382584:Y182C	Y	+	2	0	KRTAP5-5	1608191	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.388000	0.34442	-0.252000	0.09528	-0.366000	0.07423	TAC	.	.	weak		0.592	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651615	A	G	1651615	3	3	27	1	0	0	0	0	1	0	0	0	8564	391	14	2	547	2	KRTAP5-5	11	1651615	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	381780	1651615	133354901	337	22025										
SYT8	90019	hgsc.bcm.edu	37	chr11	1858262	1858262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacagccaccaaaaagggcaCggcggccccctacttcaatg	10	15	1	0	rs484955	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:1858262C>T	ENST00000381968.3	+	8	1036	c.908C>T	c.(907-909)aCg>aTg	p.T303M	TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.T289M|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAAAAGGGCACGGCGGCCCCC	0.622													C|||	929	0.185503	0.0507	0.2262	5008	,	,		18566	0.4137		0.1282	False		,,,				2504	0.1626				p.T303M		Atlas-SNP	.											SYT8,colon,carcinoma,0,1	SYT8	29	1	0			c.C908T						PASS	.	C	MET/THR	270,4134	151.0+/-185.0	12,246,1944	97	112	107		908	2.3	0.1	11	dbSNP_83	107	1035,7563	219.7+/-257.6	60,915,3324	yes	missense	SYT8	NM_138567.3	81	72,1161,5268	TT,TC,CC		12.0377,6.1308,10.0369	probably-damaging	303/402	1858262	1305,11697	2202	4299	6501	SO:0001583	missense	90019	exon8			AGGGCACGGCGGC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.908C>T	11.37:g.1858262C>T	ENSP00000371394:p.Thr303Met	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	125	6	0.048	NM_138567	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	417	0.19093406593406592	22	0.044715447154471545	80	0.22099447513812154	220	0.38461538461538464	95	0.12532981530343007	c	13.83	2.354034	0.41700	0.061308	0.120377	ENSG00000149043	ENST00000381968;ENST00000341958	T;T	0.12039	2.72;2.72	3.28	2.34	0.29019	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.00012	0.0000	H	0.94620	3.56	0.09310	P	1.0	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.29274	-1.0017	8	0.87932	D	0	.	10.6724	0.45766	0.0:0.9005:0.0:0.0995	rs484955;rs484955	303;289	Q8NBV8;A6NCR4	SYT8_HUMAN;.	M	303;289	ENSP00000371394:T303M;ENSP00000343691:T289M	ENSP00000343691:T289M	T	+	2	0	SYT8	1814838	0.689000	0.27690	0.051000	0.19133	0.176000	0.22953	2.807000	0.47955	0.720000	0.32209	0.436000	0.28706	ACG	C|0.863;T|0.137	0.137	strong		0.622	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858262	C	T	1858262	3	4	27	1	0	0	0	0	1	0	0	0	15477	536	19	1	938	1	SYT8	11	1858262	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	206647	1858262	133148254	338	22026										
OR51G1	79324	hgsc.bcm.edu	37	chr11	4945196	4945196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtgggttgcagacggccacgTagcggtcaatggacatggat	16	8	1	1	rs1378739	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:4945196T>G	ENST00000321961.2	-	1	441	c.374A>C	c.(373-375)tAc>tCc	p.Y125S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	125			Y -> S (in dbSNP:rs1378739). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACGGCCACGTAGCGGTCAAT	0.507													T|||	3292	0.657348	0.7231	0.6484	5008	,	,		22751	0.7222		0.5686	False		,,,				2504	0.5992				p.Y125S		Atlas-SNP	.											.	OR51G1	74	.	0			c.A374C						PASS	.	T	SER/TYR	3078,1324	695.5+/-405.9	1059,960,182	110	98	102		374	3	1	11	dbSNP_88	102	4985,3611	625.5+/-397.7	1451,2083,764	yes	missense	OR51G1	NM_001005237.1	144	2510,3043,946	GG,GT,TT		42.0079,30.0772,37.9674	probably-damaging	125/322	4945196	8063,4935	2201	4298	6499	SO:0001583	missense	79324	exon1			GCCACGTAGCGGT	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.374A>C	11.37:g.4945196T>G	ENSP00000322546:p.Tyr125Ser	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_001005237	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	1442	0.6602564102564102	372	0.7560975609756098	244	0.6740331491712708	410	0.7167832167832168	416	0.5488126649076517	T	9.340	1.062863	0.19987	0.699228	0.579921	ENSG00000176879	ENST00000321961	T	0.57436	0.4	4.2	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.227317	0.22524	U	0.058922	T	0.00012	0.0000	M	0.86953	2.85	0.30227	P	0.796256	P	0.41748	0.761	B	0.37346	0.247	T	0.38542	-0.9656	9	0.87932	D	0	.	9.0162	0.36170	0.1644:0.0:0.0:0.8356	rs1378739;rs17337943	125	Q8NGK1	O51G1_HUMAN	S	125	ENSP00000322546:Y125S	ENSP00000322546:Y125S	Y	-	2	0	OR51G1	4901772	0.085000	0.21516	0.996000	0.52242	0.061000	0.15899	0.375000	0.20518	1.760000	0.52011	0.455000	0.32223	TAC	T|0.355;G|0.645	0.645	strong		0.507	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		G	4945196	T	G	4945196	3	3	27	1	0	0	0	0	1	0	0	0	11098	1638	57	5	593	5	OR51G1	11	4945196	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3086934	4945196	130061320	339	22027										
OR51A2	401667	hgsc.bcm.edu	37	chr11	4976291	4976291	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcttgaggatcagggtgtaaGacacagcaatgagaataaag	12	5	2	3	rs55889636	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:4976291G>A	ENST00000380371.1	-	1	652	c.653C>T	c.(652-654)tCt>tTt	p.S218F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGTGTAAGACACAGCAAT	0.428													.|||	1878	0.375	0.3722	0.3905	5008	,	,		14851	0.379		0.4841	False		,,,				2504	0.2515				p.S218F		Atlas-SNP	.											OR51A2,NS,carcinoma,0,1	OR51A2	40	1	0			c.C653T						scavenged	.		PHE/SER	1533,2741		432,669,1036	80	62	68		653	3.1	0.1	11	dbSNP_129	68	3770,4262		1350,1070,1596	yes	missense	OR51A2	NM_001004748.1	155	1782,1739,2632	AA,AG,GG		46.9373,35.868,43.0928	probably-damaging	218/314	4976291	5303,7003	2137	4016	6153	SO:0001583	missense	401667	exon1			GTGTAAGACACAG	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.653C>T	11.37:g.4976291G>A	ENSP00000369729:p.Ser218Phe	Somatic	525	0	0		WXS	Illumina HiSeq	Phase_I	516	5	0.00968992	NM_001004748		Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	802	0.36721611721611724	148	0.3008130081300813	117	0.32320441988950277	194	0.33916083916083917	343	0.4525065963060686	-	16.73	3.204617	0.58234	0.35868	0.469373	ENSG00000205496	ENST00000380371	T	0.42513	0.97	3.13	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	H	0.96208	3.785	0.32076	P	0.5937319999999999	D	0.89917	1.0	D	0.97110	1.0	T	0.42224	-0.9464	8	0.87932	D	0	.	13.3431	0.60555	0.0:0.0:1.0:0.0	rs55889636	218	Q8NGJ7	O51A2_HUMAN	F	218	ENSP00000369729:S218F	ENSP00000369729:S218F	S	-	2	0	OR51A2	4932867	0.998000	0.40836	0.057000	0.19452	0.032000	0.12392	5.391000	0.66266	1.757000	0.51966	0.395000	0.25975	TCT	G|0.661;A|0.339	0.339	strong		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		A	4976291	G	A	4976291	3	1	27	1	0	0	0	0	1	0	0	0	11086	942	33	2	290	2	OR51A2	11	4976291	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	31095	4976291	130030225	340	22028										
OR52D1	390066	hgsc.bcm.edu	37	chr11	5510809	5510809	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtgctggtgcctcctgtactCaatcctattctctatggagc	9	12	2	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:5510809C>T	ENST00000322641.5	+	1	895	c.873C>T	c.(871-873)ctC>ctT	p.L291L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	291					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTGTACTCAATCCTATTC	0.483																																					p.L291L		Atlas-SNP	.											OR52D1,NS,carcinoma,0,1	OR52D1	66	1	0			c.C873T						scavenged	.						95	86	89					11																	5510809		2201	4297	6498	SO:0001819	synonymous_variant	390066	exon1			TGTACTCAATCCT	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.873C>T	11.37:g.5510809C>T		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	260	7	0.0269231	NM_001005163	B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	CCDS31384.1																																																																																			.	.	none		0.483	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		T	5510809	C	T	5510809	2	4	27	1	0	0	0	0	0	0	0	1	11114	813	29	2		2	OR52D1	11	5510809	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	534518	5510809	129495707	341	22029										
APBB1	322	hgsc.bcm.edu	37	chr11	6422229	6422229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acacacataccaacaggtttAgcaacaggtacattccccag	6	13	0	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:6422229A>G	ENST00000609360.1	-	12	1761	c.1662T>C	c.(1660-1662)gcT>gcC	p.A554A	APBB1_ENST00000389906.2_Silent_p.A554A|APBB1_ENST00000609331.1_Silent_p.A319A|APBB1_ENST00000608704.1_Silent_p.A295A|APBB1_ENST00000530885.1_Silent_p.A332A|APBB1_ENST00000299402.6_Silent_p.A552A|APBB1_ENST00000608645.1_Silent_p.A295A|APBB1_ENST00000608655.1_Silent_p.A334A|APBB1_ENST00000529519.1_Silent_p.A79A|APBB1_ENST00000608394.1_Silent_p.A295A|APBB1_ENST00000311051.3_Silent_p.A552A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	554	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAACAGGTTTAGCAACAGGTA	0.473																																					p.A554A	GBM(147;1810 2556 5672 39622)	Atlas-SNP	.											APBB1,NS,carcinoma,-2,1	APBB1	73	1	0			c.T1662C						scavenged	.						277	277	277					11																	6422229		2201	4296	6497	SO:0001819	synonymous_variant	322	exon11			AGGTTTAGCAACA	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1662T>C	11.37:g.6422229A>G		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	179	2	0.0111732	NM_001164	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37																																																																																				.	.	none		0.473	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		G	6422229	A	G	6422229	2	3	27	1	0	0	0	0	0	0	0	1	759	407	15	3		3	APBB1	11	6422229	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	911420	6422229	128584287	342	22030										
MRGPRX4	117196	hgsc.bcm.edu	37	chr11	18194964	18194964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtgctctggctcctgggctAccgcatgcgcaggaacgctg	14	13	1	0	rs1869788	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:18194964A>G	ENST00000314254.3	+	1	581	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	54			Y -> C (in dbSNP:rs1869788). {ECO:0000269|PubMed:11850634}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTCCTGGGCTACCGCATGCGC	0.552													G|||	1845	0.368411	0.3873	0.3559	5008	,	,		21075	0.4415		0.3072	False		,,,				2504	0.3395				p.Y54C		Atlas-SNP	.											.	MRGPRX4	68	.	0			c.A161G						PASS	.	G	CYS/TYR	1625,2773		297,1031,871	129	114	119		161	0.4	0	11	dbSNP_92	119	2463,6123		346,1771,2176	no	missense	MRGPRX4	NM_054032.3	194	643,2802,3047	GG,GA,AA		28.6862,36.9486,31.4849	benign	54/323	18194964	4088,8896	2199	4293	6492	SO:0001583	missense	117196	exon1			TGGGCTACCGCAT	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.161A>G	11.37:g.18194964A>G	ENSP00000314042:p.Tyr54Cys	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	128	8	0.0625	NM_054032	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	823	0.3768315018315018	184	0.37398373983739835	122	0.3370165745856354	275	0.4807692307692308	242	0.31926121372031663	N	5.292	0.239257	0.10023	0.369486	0.286862	ENSG00000179817	ENST00000314254	T	0.09350	2.99	2.95	0.397	0.16314	GPCR, rhodopsin-like superfamily (1);	0.275863	0.31673	N	0.007243	T	0.00012	0.0000	N	0.02721	-0.515	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45131	-0.9282	9	0.56958	D	0.05	.	5.4252	0.16421	0.1592:0.0:0.3113:0.5295	rs1869788;rs56745486	54	Q96LA9	MRGX4_HUMAN	C	54	ENSP00000314042:Y54C	ENSP00000314042:Y54C	Y	+	2	0	MRGPRX4	18151540	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.336000	0.07863	-0.398000	0.07679	-4.918000	0.00002	TAC	A|0.673;G|0.327	0.327	strong		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		G	18194964	A	G	18194964	3	3	27	1	0	0	0	0	1	0	0	0	9769	391	14	2	163	2	MRGPRX4	11	18194964	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	11772735	18194964	116811552	343	22031										
NAV2	89797	hgsc.bcm.edu	37	chr11	20071386	20071386	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcctggacttctagccctCtctcttcccctgctgctagc	7	18	3	0	rs76731633	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:20071386C>G	ENST00000396087.3	+	17	4543	c.4444C>G	c.(4444-4446)Ctc>Gtc	p.L1482V	NAV2_ENST00000540292.1_Missense_Mutation_p.L1413V|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.L1459V|NAV2_ENST00000360655.4_Missense_Mutation_p.L1395V|NAV2_ENST00000527559.2_Missense_Mutation_p.L1411V|NAV2_ENST00000396085.1_Missense_Mutation_p.L1459V|NAV2-AS2_ENST00000533767.1_RNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1482	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTCTAGCCCTCTCTCTTCCCC	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		19931	0.003		0.0	False		,,,				2504	0.0				p.L1482V		Atlas-SNP	.											.	NAV2	255	.	0			c.C4444G						PASS	.						150	144	146					11																	20071386		2203	4300	6503	SO:0001583	missense	89797	exon17			AGCCCTCTCTCTT	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.4444C>G	11.37:g.20071386C>G	ENSP00000379396:p.Leu1482Val	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	96	4	0.0416667	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.83	2.055579	0.36277	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.61;1.71;1.71;1.69;1.6;1.6	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000057	T	0.26048	0.0635	L	0.29908	0.895	0.80722	D	1	B;B	0.28082	0.2;0.11	B;B	0.28465	0.09;0.033	T	0.03493	-1.1031	9	.	.	.	.	18.2759	0.90083	0.0:1.0:0.0:0.0	.	1459;1395	Q8IVL1-3;Q8IVL1-4	.;.	V	1395;1459;1459;1482;1411;1413	ENSP00000353871:L1395V;ENSP00000379394:L1459V;ENSP00000309577:L1459V;ENSP00000379396:L1482V;ENSP00000435395:L1411V;ENSP00000443489:L1413V	.	L	+	1	0	NAV2	20027962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CTC	C|0.998;G|0.002	0.002	strong		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	20071386	C	G	20071386	3	3	27	1	0	0	0	0	1	0	0	0	10184	913	32	4	4546	4	NAV2	11	20071386	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1876422	20071386	114935130	344	22032										
EXT2	2132	hgsc.bcm.edu	37	chr11	44129290	44129290	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgtcggtcaagtataatatcCggggtcctgccctcatccca	9	14	2	0	rs4755228	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:44129290C>A	ENST00000343631.3	+	2	157	c.28C>A	c.(28-30)Cgg>Agg	p.R10R	EXT2_ENST00000358681.4_Silent_p.R10R|EXT2_ENST00000533608.1_Silent_p.R10R|EXT2_ENST00000395673.3_Silent_p.R43R			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	10					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTATAATATCCGGGGTCCTGC	0.483			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				C|||	391	0.0780751	0.0045	0.0519	5008	,	,		18309	0.2788		0.0089	False		,,,				2504	0.0603				p.R43R		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	.	EXT2	129	.	0			c.C127A						PASS	.	C	,,	37,4369	40.0+/-72.8	0,37,2166	121	118	119		127,28,28	4.4	1	11	dbSNP_111	119	39,8561	25.7+/-73.6	0,39,4261	no	coding-synonymous,coding-synonymous,coding-synonymous	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	,,	0,76,6427	AA,AC,CC		0.4535,0.8398,0.5843	,,	43/752,10/729,10/719	44129290	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	2132	exon2	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	AATATCCGGGGTC		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.28C>A	11.37:g.44129290C>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	97	4	0.0412371	NM_000401	B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	CCDS7908.1																																																																																			C|0.958;A|0.042	0.042	strong		0.483	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		A	44129290	C	A	44129290	2	1	27	1	0	0	0	0	0	0	0	1	5324	643	23	4		4	EXT2	11	44129290	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	24057904	44129290	90877226	345	22033										
FOLH1	2346	hgsc.bcm.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caacagcctctgcaattccaCgcctataagcatattctgaa	5	13	2	1	rs116795343	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																					p.R281H		Atlas-SNP	.											FOLH1,NS,carcinoma,-1,2	FOLH1	141	2	1	Substitution - Missense(1)	lung(1)	c.G842A						scavenged	.						72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346	exon7			ATTCCACGCCTAT	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His	Somatic	240	2	0.00833333		WXS	Illumina HiSeq	Phase_I	300	7	0.0233333	NM_004476	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	C|0.974;T|0.026	0.026	strong		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	27	1	0	0	0	0	1	0	0	0	5979	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5075489	49204779	85801737	346	22034										
OR5D18	219438	hgsc.bcm.edu	37	chr11	55587457	55587457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgaatcctttttattagctGtgatggcctatgaccgcttc	8	10	0	3	rs11231180	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:55587457G>A	ENST00000333976.4	+	1	372	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	118			V -> M (in dbSNP:rs11231180).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V118M(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTATTAGCTGTGATGGCCTA	0.443													N|||	79	0.0157748	0.0	0.0	5008	,	,		18318	0.0754		0.0	False		,,,				2504	0.0031				p.V118M		Atlas-SNP	.											OR5D18,NS,carcinoma,0,1	OR5D18	121	1	1	Substitution - Missense(1)	stomach(1)	c.G352A						scavenged	.						161	159	160					11																	55587457		2200	4296	6496	SO:0001583	missense	219438	exon1			TTAGCTGTGATGG	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.352G>A	11.37:g.55587457G>A	ENSP00000335025:p.Val118Met	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	131	3	0.0229008	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	42	0.019230769230769232	0	0.0	0	0.0	42	0.07342657342657342	0	0.0	.	12.55	1.970990	0.34754	.	.	ENSG00000186119	ENST00000333976	T	0.05855	3.38	4.84	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	N	0.003013	T	0.00815	0.0027	M	0.78344	2.41	0.19945	N	0.999941	P	0.41450	0.75	B	0.41723	0.365	T	0.04128	-1.0975	10	0.48119	T	0.1	-7.6736	13.0514	0.58957	0.0:0.0:0.8385:0.1614	rs11231180;rs11231180	118	Q8NGL1	OR5DI_HUMAN	M	118	ENSP00000335025:V118M	ENSP00000335025:V118M	V	+	1	0	OR5D18	55344033	0.011000	0.17503	0.831000	0.32960	0.812000	0.45895	0.640000	0.24705	2.458000	0.83093	0.560000	0.71715	GTG	G|0.974;A|0.026	0.026	strong		0.443	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		A	55587457	G	A	55587457	3	1	27	1	0	0	0	0	1	0	0	0	11157	1377	48	2	354	2	OR5D18	11	55587457	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	6382678	55587457	79419059	347	22035										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	599	41	0.0684474		WXS	Illumina HiSeq	Phase_I	580	27	0.0465517	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	27	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	68140	55655597	79350919	348	22036										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971203	57971203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagcaaagtgccgaacctggCccgcatgaaagttgtatagt	12	9	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:57971203C>G	ENST00000302592.6	-	1	450	c.451G>C	c.(451-453)Gcc>Ccc	p.A151P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCGAACCTGGCCCGCATGAAA	0.473																																					p.A151P		Atlas-SNP	.											OR1S2,NS,carcinoma,0,3	OR1S2	119	3	0			c.G451C						scavenged	.						163	154	157					11																	57971203		2201	4296	6497	SO:0001583	missense	219958	exon1			ACCTGGCCCGCAT	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.451G>C	11.37:g.57971203C>G	ENSP00000305469:p.Ala151Pro	Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	183	5	0.0273224	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753352	0.00085	.	.	ENSG00000197887	ENST00000302592	T	0.34275	1.37	4.47	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.857144	0.09920	N	0.738596	T	0.04770	0.0129	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.02654	T	1	.	0.1523	0.00094	0.2967:0.2321:0.2346:0.2366	.	151	Q8NGQ3	OR1S2_HUMAN	P	151	ENSP00000305469:A151P	ENSP00000305469:A151P	A	-	1	0	OR1S2	57727779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.572000	0.06006	-0.120000	0.15030	GCC	.	.	none		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57971203	C	G	57971203	3	3	27	1	0	0	0	0	1	0	0	0	10973	739	26	4	529	4	OR1S2	11	57971203	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2315606	57971203	77035313	349	22037										
CCDC86	79080	hgsc.bcm.edu	37	chr11	60610065	60610065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccccagcatcagctaccgccGgtcccaggatcaccagagcc	9	19	2	1	rs141728952|rs2074420	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:60610065G>A	ENST00000227520.5	+	1	522	c.468G>A	c.(466-468)ccG>ccA	p.P156P	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	156	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGCTACCGCCGGTCCCAGGAT	0.662													G|||	1707	0.340855	0.1664	0.2752	5008	,	,		14318	0.6806		0.1899	False		,,,				2504	0.4284				p.P156P		Atlas-SNP	.											CCDC86,NS,carcinoma,0,1	CCDC86	24	1	0			c.G468A						PASS	.						25	31	29					11																	60610065		2196	4289	6485	SO:0001819	synonymous_variant	79080	exon1			ACCGCCGGTCCCA	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.468G>A	11.37:g.60610065G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	104	5	0.0480769	NM_024098	B4DY99	Silent	SNP	ENST00000227520.5	37	CCDS7993.1																																																																																			G|0.725;A|0.275	0.275	strong		0.662	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		A	60610065	G	A	60610065	2	1	27	1	0	0	0	0	0	0	0	1	2861	1103	39	1		1	CCDC86	11	60610065	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2638862	60610065	74396451	350	22038										
DAGLA	747	hgsc.bcm.edu	37	chr11	61505168	61505168	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcccttgcagtgaggatgcGatggagtattccaaggagtt	13	7	0	1	rs198444	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:61505168G>A	ENST00000257215.5	+	15	1640	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	508					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTGAGGATGCGATGGAGTATT	0.622													G|||	2461	0.491414	0.3631	0.4986	5008	,	,		15387	0.7986		0.4284	False		,,,				2504	0.408				p.A508A		Atlas-SNP	.											DAGLA,NS,carcinoma,+1,1	DAGLA	109	1	0			c.G1524A						scavenged	.	G		1586,2818	492.9+/-362.5	275,1036,891	160	131	141		1524	-3.4	1	11	dbSNP_79	141	3767,4831	535.2+/-382.8	819,2129,1351	no	coding-synonymous	DAGLA	NM_006133.2		1094,3165,2242	AA,AG,GG		43.8125,36.0127,41.1706		508/1043	61505168	5353,7649	2202	4299	6501	SO:0001819	synonymous_variant	747	exon15			GGATGCGATGGAG	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1524G>A	11.37:g.61505168G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	105	4	0.0380952	NM_006133	A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																			G|0.536;A|0.464	0.464	strong		0.622	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61505168	G	A	61505168	2	1	27	1	0	0	0	0	0	0	0	1	4226	1045	37	1		1	DAGLA	11	61505168	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	895103	61505168	73501348	351	22039										
RAB3IL1	5866	hgsc.bcm.edu	37	chr11	61675610	61675610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagctgcgcaggcgcaacacGtccagctgggcggctgcggg	18	13	0	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:61675610G>A	ENST00000394836.2	-	2	337	c.180C>T	c.(178-180)gaC>gaT	p.D60D	RAB3IL1_ENST00000301773.5_Silent_p.D107D	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	60					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GGCGCAACACGTCCAGCTGGG	0.672																																					p.D107D		Atlas-SNP	.											.	RAB3IL1	39	.	0			c.C321T						PASS	.						13	14	14					11																	61675610		2200	4293	6493	SO:0001819	synonymous_variant	5866	exon2			CAACACGTCCAGC	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.180C>T	11.37:g.61675610G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	46	11	0.23913	NM_001271686	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																			.	.	none		0.672	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		A	61675610	G	A	61675610	2	1	27	1	0	0	0	0	0	0	0	1	12937	1136	40	1		1	RAB3IL1	11	61675610	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	170442	61675610	73330906	352	22040										
GPR152	390212	hgsc.bcm.edu	37	chr11	67220015	67220015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgccagacgcgtgccagctcCatgccgggcctgggagccgg	16	16	0	1	rs79423227	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:67220015C>T	ENST00000312457.2	-	1	185	c.181G>A	c.(181-183)Gga>Aga	p.G61R	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTGCCAGCTCCATGCCGGGCC	0.667													C|||	189	0.0377396	0.0015	0.013	5008	,	,		17001	0.1677		0.002	False		,,,				2504	0.0072				p.G61R	Pancreas(102;800 1581 2723 7382 33622)	Atlas-SNP	.											.	GPR152	41	.	0			c.G181A						PASS	.	C	ARG/GLY	8,4384		0,8,2188	18	19	19		181	4	0.3	11	dbSNP_131	19	8,8574		0,8,4283	yes	missense	GPR152	NM_206997.1	125	0,16,6471	TT,TC,CC		0.0932,0.1821,0.1233	benign	61/471	67220015	16,12958	2196	4291	6487	SO:0001583	missense	390212	exon1			CAGCTCCATGCCG	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.181G>A	11.37:g.67220015C>T	ENSP00000310255:p.Gly61Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	139	6	0.0431655	NM_206997	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	118	0.05402930402930403	1	0.0020325203252032522	4	0.011049723756906077	110	0.19230769230769232	3	0.00395778364116095	C	12.65	2.002504	0.35320	0.001821	9.32E-4	ENSG00000175514	ENST00000312457	T	0.29655	1.56	5.01	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.184672	0.26311	N	0.025110	T	0.00012	0.0000	N	0.00841	-1.15	0.40787	P	0.016773000000000038	B	0.33694	0.421	B	0.36808	0.233	T	0.22836	-1.0205	9	0.14252	T	0.57	.	5.59	0.17295	0.0:0.6866:0.2043:0.1091	.	61	Q8TDT2	GP152_HUMAN	R	61	ENSP00000310255:G61R	ENSP00000310255:G61R	G	-	1	0	GPR152	66976591	0.000000	0.05858	0.314000	0.25224	0.209000	0.24338	0.371000	0.20450	2.599000	0.87857	0.561000	0.74099	GGA	C|0.975;T|0.025	0.025	strong		0.667	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			T	67220015	C	T	67220015	3	4	27	1	0	0	0	0	1	0	0	0	6658	603	21	2	1235	2	GPR152	11	67220015	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5544405	67220015	67786501	353	22041										
TYR	7299	hgsc.bcm.edu	37	chr11	88911368	88911368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accgggagtcgtggccttccGtcttttataataggacctgc	11	11	1	0	rs149684917		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:88911368G>A	ENST00000263321.5	+	1	749	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	83					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTGGCCTTCCGTCTTTTATAA	0.512																																					p.V83I		Atlas-SNP	.											.	TYR	130	.	0			c.G247A						PASS	.	G	ILE/VAL	0,4402		0,0,2201	43	42	43		247	3.2	0.5	11	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense	TYR	NM_000372.4	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	83/530	88911368	1,12999	2201	4299	6500	SO:0001583	missense	7299	exon1			CCTTCCGTCTTTT	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.247G>A	11.37:g.88911368G>A	ENSP00000263321:p.Val83Ile	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	24	0.375	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808214	0.16467	0.0	1.16E-4	ENSG00000077498	ENST00000263321	D	0.83591	-1.74	6.07	3.24	0.37175	Uncharacterised domain, di-copper centre (2);	0.232469	0.43919	N	0.000506	D	0.82834	0.5123	M	0.80508	2.5	0.35898	D	0.830158	B	0.21520	0.057	B	0.18561	0.022	T	0.80625	-0.1299	9	.	.	.	.	15.4391	0.75168	0.1263:0.0:0.8737:0.0	.	83	P14679	TYRO_HUMAN	I	83	ENSP00000263321:V83I	.	V	+	1	0	TYR	88551016	1.000000	0.71417	0.451000	0.26982	0.487000	0.33371	5.367000	0.66127	0.462000	0.27095	-0.940000	0.02684	GTC	G|1.000;A|0.000	0.000	weak		0.512	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		A	88911368	G	A	88911368	3	1	27	1	0	0	0	0	1	0	0	0	16810	1145	40	1	249	1	TYR	11	88911368	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	21691353	88911368	46095148	354	22042										
NOX4	50507	hgsc.bcm.edu	37	chr11	89060002	89060002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcagtttatgaagagtcttGgatagtgaattgggtccaca	11	6	2	3	rs28517716	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:89060002G>A	ENST00000263317.4	-	18	1897	c.1659C>T	c.(1657-1659)tcC>tcT	p.S553S	NOX4_ENST00000535633.1_Silent_p.S529S|NOX4_ENST00000542487.1_Silent_p.S529S|NOX4_ENST00000343727.5_Silent_p.S529S|NOX4_ENST00000531342.1_Silent_p.S206S|NOX4_ENST00000527626.1_Silent_p.S366S|NOX4_ENST00000532825.1_Silent_p.S489S|NOX4_ENST00000413594.2_Silent_p.S574S|NOX4_ENST00000375979.3_Silent_p.S246S|NOX4_ENST00000525196.1_Silent_p.S317S|NOX4_ENST00000527956.1_Silent_p.S529S|NOX4_ENST00000534731.1_Silent_p.S513S|NOX4_ENST00000424319.1_Silent_p.S529S|NOX4_ENST00000528341.1_Silent_p.S528S			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	553	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAAGAGTCTTGGATAGTGAAT	0.368													G|||	660	0.131789	0.2405	0.0418	5008	,	,		16825	0.1429		0.0507	False		,,,				2504	0.1207				p.S553S		Atlas-SNP	.											NOX4,NS,carcinoma,-1,1	NOX4	101	1	0			c.C1659T						scavenged	.	G	,,	791,3611	299.6+/-285.9	68,655,1478	89	89	89		1539,1587,1659	2.4	1	11	dbSNP_125	89	347,8251	115.5+/-175.4	5,337,3957	no	coding-synonymous,coding-synonymous,coding-synonymous	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	73,992,5435	AA,AG,GG		4.0358,17.9691,8.7538	,,	513/539,529/555,553/579	89060002	1138,11862	2201	4299	6500	SO:0001819	synonymous_variant	50507	exon18			AGTCTTGGATAGT	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1659C>T	11.37:g.89060002G>A		Somatic	217	2	0.00921659		WXS	Illumina HiSeq	Phase_I	222	5	0.0225225	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																			G|0.912;A|0.088	0.088	strong		0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89060002	G	A	89060002	2	1	27	1	0	0	0	0	0	0	0	1	10558	1335	47	2		2	NOX4	11	89060002	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	148634	89060002	45946514	355	22043										
NOX4	50507	hgsc.bcm.edu	37	chr11	89088168	89088168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgaatgaagggcagaatttcGgagtcttgactagatggagg	15	4	1	5	rs75735530	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:89088168G>A	ENST00000263317.4	-	13	1417	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	NOX4_ENST00000535633.1_Silent_p.S369S|NOX4_ENST00000542487.1_Silent_p.S369S|NOX4_ENST00000343727.5_Silent_p.S369S|NOX4_ENST00000531342.1_Silent_p.S86S|NOX4_ENST00000527626.1_Silent_p.S227S|NOX4_ENST00000532825.1_Silent_p.S369S|NOX4_ENST00000413594.2_Silent_p.S414S|NOX4_ENST00000375979.3_Silent_p.S86S|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Silent_p.S369S|NOX4_ENST00000534731.1_Silent_p.S393S|NOX4_ENST00000424319.1_Silent_p.S369S|NOX4_ENST00000528341.1_Silent_p.S368S			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	393	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GCAGAATTTCGGAGTCTTGAC	0.373													G|||	433	0.0864617	0.0023	0.1686	5008	,	,		15054	0.0883		0.0815	False		,,,				2504	0.1452				p.S393S		Atlas-SNP	.											NOX4,right_upper_lobe,carcinoma,-1,1	NOX4	101	1	0			c.C1179T						scavenged	.	G	,,	70,4332	61.1+/-98.1	1,68,2132	52	52	52		1179,1107,1179	-4.4	1	11	dbSNP_131	52	637,7953	159.7+/-212.9	25,587,3683	no	coding-synonymous,coding-synonymous,coding-synonymous	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	26,655,5815	AA,AG,GG		7.4156,1.5902,5.4418	,,	393/539,369/555,393/579	89088168	707,12285	2201	4295	6496	SO:0001819	synonymous_variant	50507	exon13			AATTTCGGAGTCT	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1179C>T	11.37:g.89088168G>A		Somatic	341	0	0		WXS	Illumina HiSeq	Phase_I	415	13	0.0313253	NM_001143836	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																			G|0.942;A|0.058	0.058	strong		0.373	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89088168	G	A	89088168	2	1	27	1	0	0	0	0	0	0	0	1	10558	1103	39	1		1	NOX4	11	89088168	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	28166	89088168	45918348	356	22044										
ENDOD1	23052	hgsc.bcm.edu	37	chr11	94862577	94862577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttccctgtgtacaccatggGcgctattccaattgtttgca	8	11	0	0	rs3740861	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:94862577G>T	ENST00000278505.4	+	2	1455	c.1337G>T	c.(1336-1338)gGc>gTc	p.G446V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	446			G -> V (in dbSNP:rs3740861).			extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TACACCATGGGCGCTATTCCA	0.532													G|||	1002	0.20008	0.087	0.196	5008	,	,		19140	0.122		0.2684	False		,,,				2504	0.3661				p.G446V		Atlas-SNP	.											ENDOD1,NS,carcinoma,-1,1	ENDOD1	26	1	0			c.G1337T						scavenged	.	G	VAL/GLY	488,3592		31,426,1583	189	180	183		1337	6	0.1	11	dbSNP_107	183	2329,6089		319,1691,2199	yes	missense	ENDOD1	NM_015036.2	109	350,2117,3782	TT,TG,GG		27.6669,11.9608,22.5396	probably-damaging	446/501	94862577	2817,9681	2040	4209	6249	SO:0001583	missense	23052	exon2			CCATGGGCGCTAT	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1337G>T	11.37:g.94862577G>T	ENSP00000278505:p.Gly446Val	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	204	8	0.0392157	NM_015036	A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	CCDS41699.1	392	0.1794871794871795	53	0.10772357723577236	68	0.1878453038674033	66	0.11538461538461539	205	0.2704485488126649	G	13.52	2.261585	0.39995	0.119608	0.276669	ENSG00000149218	ENST00000278505	T	0.36699	1.24	5.97	5.97	0.96955	.	0.532850	0.21869	N	0.067907	T	0.00012	0.0000	M	0.65975	2.015	0.36868	P	0.11124599999999996	D	0.65815	0.995	P	0.58172	0.834	T	0.00163	-1.1969	9	0.46703	T	0.11	-10.5144	20.4301	0.99081	0.0:0.0:1.0:0.0	rs3740861;rs17693261;rs52803898;rs58207096;rs3740861	446	O94919	ENDD1_HUMAN	V	446	ENSP00000278505:G446V	ENSP00000278505:G446V	G	+	2	0	ENDOD1	94502225	0.981000	0.34729	0.067000	0.19924	0.018000	0.09664	6.268000	0.72552	2.834000	0.97654	0.557000	0.71058	GGC	G|0.794;T|0.206	0.206	strong		0.532	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		T	94862577	G	T	94862577	3	4	27	1	0	0	0	0	1	0	0	0	5114	1203	42	4	1343	4	ENDOD1	11	94862577	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5774409	94862577	40143939	357	22045										
MMP27	64066	hgsc.bcm.edu	37	chr11	102563739	102563739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttaccactctctgcgggaaCcctttgtccatggtttgggt	10	11	1	0	rs1276289	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:102563739C>T	ENST00000260229.4	-	9	1318	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	409					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCTGCGGGAACCCTTTGTCCA	0.438													C|||	2254	0.45008	0.2186	0.5072	5008	,	,		19176	0.629		0.4453	False		,,,				2504	0.5429				p.G409G		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	0			c.G1227A						PASS	.	C		1205,3201	419.8+/-338.8	150,905,1148	193	181	185		1227	-5.4	0.3	11	dbSNP_87	185	3891,4707	544.7+/-384.6	858,2175,1266	no	coding-synonymous	MMP27	NM_022122.2		1008,3080,2414	TT,TC,CC		45.2547,27.3491,39.1879		409/514	102563739	5096,7908	2203	4299	6502	SO:0001819	synonymous_variant	64066	exon9			CGGGAACCCTTTG	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1227G>A	11.37:g.102563739C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	125	6	0.048	NM_022122	Q6UWK6	Silent	SNP	ENST00000260229.4	37	CCDS8319.1																																																																																			C|0.594;T|0.406	0.406	strong		0.438	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		T	102563739	C	T	102563739	2	4	27	1	0	0	0	0	0	0	0	1	9664	494	18	2		2	MMP27	11	102563739	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	7701162	102563739	32442777	358	22046										
MMP27	64066	hgsc.bcm.edu	37	chr11	102567207	102567207	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gttcctttggcttagcaggtTccttaggcagacctcctttg	10	11	0	1	rs1276286	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:102567207T>A	ENST00000260229.4	-	6	888	c.797A>T	c.(796-798)gAa>gTa	p.E266V		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	266			E -> V (in dbSNP:rs1276286). {ECO:0000269|PubMed:12975309}.		collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CTTAGCAGGTTCCTTAGGCAG	0.413													A|||	2191	0.4375	0.1725	0.5043	5008	,	,		18588	0.629		0.4443	False		,,,				2504	0.544				p.E266V		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	0			c.A797T						PASS	.	A	VAL/GLU	1066,3340	723.7+/-409.4	113,840,1250	151	154	153		797	-1.3	0	11	dbSNP_87	153	3904,4694	606.3+/-395.1	863,2178,1258	yes	missense	MMP27	NM_022122.2	121	976,3018,2508	AA,AT,TT		45.4059,24.1943,38.219	benign	266/514	102567207	4970,8034	2203	4299	6502	SO:0001583	missense	64066	exon6			GCAGGTTCCTTAG	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.797A>T	11.37:g.102567207T>A	ENSP00000260229:p.Glu266Val	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	220	10	0.0454545	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	931	0.42628205128205127	84	0.17073170731707318	169	0.46685082872928174	336	0.5874125874125874	342	0.45118733509234826	A	0.065	-1.215502	0.01542	0.241943	0.454059	ENSG00000137675	ENST00000260229	T	0.14266	2.52	5.89	-1.3	0.09259	.	3.758110	0.00837	N	0.001700	T	0.00012	0.0000	N	0.02830	-0.485	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	9	0.20046	T	0.44	.	5.2352	0.15443	0.4414:0.0:0.2808:0.2778	rs1276286;rs17800318;rs52815827;rs56490119;rs1276286	266	Q9H306	MMP27_HUMAN	V	266	ENSP00000260229:E266V	ENSP00000260229:E266V	E	-	2	0	MMP27	102072417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.450000	0.06803	-0.348000	0.08286	-1.349000	0.01238	GAA	T|0.600;A|0.400	0.400	strong		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102567207	T	A	102567207	3	1	27	1	0	0	0	0	1	0	0	0	9664	1783	62	5	764	5	MMP27	11	102567207	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3468	102567207	32439309	359	22047										
MMP27	64066	hgsc.bcm.edu	37	chr11	102576382	102576382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcttcattttccgtcatccGgactaagggaaatgcagaag	9	9	3	1	rs12099177	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:102576382G>A	ENST00000260229.4	-	1	155	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	22			R -> W (in dbSNP:rs12099177).		collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R22W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCCGTCATCCGGACTAAGGGA	0.363													G|||	844	0.16853	0.1687	0.1455	5008	,	,		19020	0.2996		0.0666	False		,,,				2504	0.1544				p.R22W		Atlas-SNP	.											MMP27,NS,carcinoma,0,1	MMP27	84	1	1	Substitution - Missense(1)	stomach(1)	c.C64T						scavenged	.	G	TRP/ARG	741,3665	301.0+/-286.6	67,607,1529	99	106	104		64	0.5	0	11	dbSNP_120	104	550,8048	150.4+/-205.3	15,520,3764	yes	missense	MMP27	NM_022122.2	101	82,1127,5293	AA,AG,GG		6.3968,16.818,9.9277	possibly-damaging	22/514	102576382	1291,11713	2203	4299	6502	SO:0001583	missense	64066	exon1			TCATCCGGACTAA	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.64C>T	11.37:g.102576382G>A	ENSP00000260229:p.Arg22Trp	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	193	7	0.0362694	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	340	0.15567765567765568	93	0.18902439024390244	43	0.11878453038674033	161	0.28146853146853146	43	0.05672823218997362	G	10.72	1.429129	0.25726	0.16818	0.063968	ENSG00000137675	ENST00000260229	T	0.36520	1.25	4.98	0.533	0.17121	.	1.468070	0.05201	U	0.505000	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.21606	0.058	B	0.20384	0.029	T	0.33548	-0.9864	9	0.66056	D	0.02	.	3.9186	0.09234	0.0821:0.1352:0.4882:0.2945	rs12099177;rs60819172;rs12099177	22	Q9H306	MMP27_HUMAN	W	22	ENSP00000260229:R22W	ENSP00000260229:R22W	R	-	1	2	MMP27	102081592	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.091000	0.30915	0.330000	0.23485	0.655000	0.94253	CGG	G|0.882;A|0.118	0.118	strong		0.363	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102576382	G	A	102576382	3	1	27	1	0	0	0	0	1	0	0	0	9664	1115	39	1	1517	1	MMP27	11	102576382	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	9175	102576382	32430134	360	22048										
MMP8	4317	hgsc.bcm.edu	37	chr11	102587062	102587062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagaaaagtatttctccacgGagtgtggtgatagcatcaaa	10	6	2	2	rs3740938	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:102587062G>A	ENST00000236826.3	-	6	971	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	291					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.L291L(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TTTCTCCACGGAGTGTGGTGA	0.378													G|||	588	0.117412	0.0038	0.1282	5008	,	,		16940	0.2778		0.0626	False		,,,				2504	0.1544				p.L291L		Atlas-SNP	.											MMP8,colon,carcinoma,0,5	MMP8	68	5	1	Substitution - coding silent(1)	stomach(1)	c.C873T						scavenged	.	G		86,4320	71.4+/-109.4	3,80,2120	117	122	120		873	4.1	1	11	dbSNP_107	120	547,8051	151.0+/-205.8	15,517,3767	no	coding-synonymous	MMP8	NM_002424.2		18,597,5887	AA,AG,GG		6.3619,1.9519,4.8677		291/468	102587062	633,12371	2203	4299	6502	SO:0001819	synonymous_variant	4317	exon6			TCCACGGAGTGTG	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.873C>T	11.37:g.102587062G>A		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	242	8	0.0330578	NM_002424	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	241	0.11034798534798534	1	0.0020325203252032522	40	0.11049723756906077	155	0.270979020979021	45	0.059366754617414245	G	8.669	0.902281	0.17760	0.019519	0.063619	ENSG00000118113	ENST00000438475	.	.	.	5.03	4.11	0.48088	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999495	.	.	.	.	.	.	T	0.17258	-1.0375	3	.	.	.	.	8.5229	0.33287	0.0:0.1684:0.6573:0.1743	rs3740938;rs60162198;rs3740938	.	.	.	S	267	.	.	P	-	1	0	MMP8	102092272	0.632000	0.27172	0.990000	0.47175	0.986000	0.74619	-0.270000	0.08584	1.092000	0.41356	0.563000	0.77884	CCG	G|0.920;A|0.080	0.080	strong		0.378	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102587062	G	A	102587062	2	1	27	1	0	0	0	0	0	0	0	1	9668	1161	41	2		2	MMP8	11	102587062	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	10680	102587062	32419454	361	22049										
CD3D	915	hgsc.bcm.edu	37	chr11	118211113	118211113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gataatgaacttgcacggtaGattctttgtccttgtatata	8	6	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:118211113G>A	ENST00000300692.4	-	2	387	c.251C>T	c.(250-252)tCt>tTt	p.S84F	CD3D_ENST00000392884.2_Missense_Mutation_p.S84F|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	84					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TTGCACGGTAGATTCTTTGTC	0.458																																					p.S84F		Atlas-SNP	.											.	CD3D	21	.	0			c.C251T						PASS	.						224	173	191					11																	118211113		2200	4296	6496	SO:0001583	missense	915	exon2			ACGGTAGATTCTT	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.251C>T	11.37:g.118211113G>A	ENSP00000300692:p.Ser84Phe	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	102	25	0.245098	NM_000732	A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566084	0.27915	.	.	ENSG00000167286	ENST00000300692;ENST00000392884	T;T	0.49720	2.09;0.77	5.15	-0.336	0.12658	Immunoglobulin-like fold (1);	1.180960	0.05785	N	0.609330	T	0.38054	0.1026	L	0.59436	1.845	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.19745	-1.0296	10	0.10111	T	0.7	3.1627	4.787	0.13230	0.171:0.0:0.3239:0.5051	.	84;84	A8MVP6;P04234	.;CD3D_HUMAN	F	84	ENSP00000300692:S84F;ENSP00000376622:S84F	ENSP00000300692:S84F	S	-	2	0	CD3D	117716323	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	-0.767000	0.04720	-0.223000	0.09943	0.655000	0.94253	TCT	.	.	none		0.458	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		A	118211113	G	A	118211113	3	1	27	1	0	0	0	0	1	0	0	0	3010	942	33	2	280	2	CD3D	11	118211113	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	15624051	118211113	16795403	362	22050										
OR6M1	390261	hgsc.bcm.edu	37	chr11	123676690	123676690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtgcagtgggtcgcagataGccatgtagcggtcaaaggac	15	8	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:123676690G>T	ENST00000309154.2	-	1	405	c.368C>A	c.(367-369)gCt>gAt	p.A123D		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCGCAGATAGCCATGTAGCG	0.507																																					p.A123D		Atlas-SNP	.											.	OR6M1	60	.	0			c.C368A						PASS	.						51	52	52					11																	123676690		2202	4299	6501	SO:0001583	missense	390261	exon1			CAGATAGCCATGT	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.368C>A	11.37:g.123676690G>T	ENSP00000311038:p.Ala123Asp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	97	36	0.371134	NM_001005325	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035627	0.54896	.	.	ENSG00000196099	ENST00000309154	T	0.01234	5.13	3.68	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33127	U	0.005259	T	0.13114	0.0318	H	0.98133	4.155	0.35910	D	0.831017	D	0.89917	1.0	D	0.80764	0.994	T	0.14392	-1.0474	10	0.87932	D	0	.	9.2511	0.37555	0.1145:0.0:0.8855:0.0	.	123	Q8NGM8	OR6M1_HUMAN	D	123	ENSP00000311038:A123D	ENSP00000311038:A123D	A	-	2	0	OR6M1	123181900	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	6.085000	0.71343	1.862000	0.54008	0.655000	0.94253	GCT	.	.	none		0.507	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		T	123676690	G	T	123676690	3	4	27	1	0	0	0	0	1	0	0	0	11205	971	34	4	576	4	OR6M1	11	123676690	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5465577	123676690	11329826	363	22051										
OR8B4	283162	hgsc.bcm.edu	37	chr11	124293857	124293857	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attagaagagcactctcttcAgggttttgcccagggcaagt	11	9	2	2	rs79770470	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:124293857A>C	ENST00000356130.3	-	1	932	c.911T>G	c.(910-912)cTg>cGg	p.L304R		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACTCTCTTCAGGGTTTTGCC	0.428													A|||	15	0.00299521	0.0	0.0	5008	,	,		17636	0.0149		0.0	False		,,,				2504	0.0				p.L304R		Atlas-SNP	.											OR8B4,NS,carcinoma,-1,1	OR8B4	60	1	0			c.T911G						scavenged	.						72	73	72					11																	124293857		2201	4299	6500	SO:0001583	missense	283162	exon1			CTCTTCAGGGTTT	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.911T>G	11.37:g.124293857A>C	ENSP00000348449:p.Leu304Arg	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	172	4	0.0232558	NM_001005196	B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	a	19.64	3.865772	0.71949	.	.	ENSG00000198657	ENST00000356130	T	0.50548	0.74	4.19	4.19	0.49359	.	0.202836	0.24256	N	0.040122	T	0.51381	0.1671	M	0.80982	2.52	0.09310	N	1	D	0.56746	0.977	P	0.62649	0.905	T	0.56038	-0.8045	10	0.72032	D	0.01	.	13.9593	0.64168	1.0:0.0:0.0:0.0	.	304	Q96RC9	OR8B4_HUMAN	R	304	ENSP00000348449:L304R	ENSP00000348449:L304R	L	-	2	0	OR8B4	123799067	0.049000	0.20398	0.181000	0.23098	0.865000	0.49528	3.431000	0.52814	2.119000	0.64992	0.533000	0.62120	CTG	A|0.995;C|0.005	0.005	strong		0.428	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		C	124293857	A	C	124293857	3	2	27	1	0	0	0	0	1	0	0	0	11229	188	7	5	20	5	OR8B4	11	124293857	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	617167	124293857	10712659	364	22052										
HYLS1	219844	hgsc.bcm.edu	37	chr11	125769354	125769354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctacagcttttacccacatcTgtgcagggcagggtgaagga	12	10	1	1	rs667782	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr11:125769354T>C	ENST00000425380.2	+	3	872	c.91T>C	c.(91-93)Tgt>Cgt	p.C31R	HYLS1_ENST00000356438.3_Missense_Mutation_p.C31R|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.C31R	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	31			C -> R (in dbSNP:rs667782). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TACCCACATCTGTGCAGGGCA	0.488													T|||	1499	0.299321	0.3177	0.2291	5008	,	,		19753	0.3542		0.2416	False		,,,				2504	0.3272				p.C31R	Esophageal Squamous(172;2590 2636 8884 10471)	Atlas-SNP	.											.	HYLS1	25	.	0			c.T91C						PASS	.	T	ARG/CYS,,ARG/CYS	1325,3077	444.1+/-347.2	212,901,1088	86	79	81		91,,91	6.2	1	11	dbSNP_83	81	2046,6552	356.6+/-330.4	255,1536,2508	yes	missense,intron,missense	PUS3,HYLS1	NM_001134793.1,NM_031307.3,NM_145014.2	180,,180	467,2437,3596	CC,CT,TT		23.7962,30.1,25.9308	possibly-damaging,,possibly-damaging	31/300,,31/300	125769354	3371,9629	2201	4299	6500	SO:0001583	missense	219844	exon3			CACATCTGTGCAG	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.91T>C	11.37:g.125769354T>C	ENSP00000414884:p.Cys31Arg	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	116	5	0.0431034	NM_001134793	B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	650	0.2976190476190476	171	0.3475609756097561	70	0.19337016574585636	211	0.3688811188811189	198	0.2612137203166227	T	18.54	3.646288	0.67358	0.301	0.237962	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	6.17	0.99709	.	0.269718	0.30201	N	0.010162	T	0.00012	0.0000	L	0.51422	1.61	0.09310	P	1.0	P	0.45212	0.853	P	0.47528	0.549	T	0.04509	-1.0946	9	0.72032	D	0.01	.	15.0521	0.71881	0.0:0.0:0.0:1.0	rs667782;rs17845455;rs17858328;rs52828124;rs59008206;rs667782	31	Q96M11	HYLS1_HUMAN	R	31	ENSP00000348815:C31R;ENSP00000414884:C31R;ENSP00000436833:C31R	ENSP00000348815:C31R	C	+	1	0	HYLS1	125274564	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.052000	0.57420	2.371000	0.80710	0.533000	0.62120	TGT	T|0.719;C|0.281	0.281	strong		0.488	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		C	125769354	T	C	125769354	3	2	27	1	0	0	0	0	1	0	0	0	7469	1580	55	3	93	3	HYLS1	11	125769354	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1475497	125769354	9237162	365	22053										
PZP	5858	hgsc.bcm.edu	37	chr12	9312951	9312951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttggccttgatctcctgcGtcagctgctgggtttcattc	10	13	3	1	rs57006764	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:9312951G>A	ENST00000261336.2	-	24	3036	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	PZP_ENST00000381997.2_Missense_Mutation_p.T789M|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1003			T -> M (in dbSNP:rs57006764).		female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATCTCCTGCGTCAGCTGCTG	0.428													G|||	1356	0.270767	0.1619	0.2695	5008	,	,		-128	0.4762		0.1909	False		,,,				2504	0.2894				p.T1003M	Melanoma(125;1402 1695 4685 34487 38571)	Atlas-SNP	.											PZP_ENST00000381997,NS,carcinoma,+1,2	PZP	422	2	0			c.C3008T						PASS	.	G	MET/THR	710,3696	293.6+/-282.7	68,574,1561	130	119	123		3008	3.7	0	12	dbSNP_129	123	1456,7144	278.2+/-293.3	116,1224,2960	yes	missense	PZP	NM_002864.2	81	184,1798,4521	AA,AG,GG		16.9302,16.1144,16.6539	probably-damaging	1003/1483	9312951	2166,10840	2203	4300	6503	SO:0001583	missense	5858	exon24			TCCTGCGTCAGCT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3008C>T	12.37:g.9312951G>A	ENSP00000261336:p.Thr1003Met	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	116	7	0.0603448	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	577	0.2641941391941392	105	0.21341463414634146	92	0.2541436464088398	253	0.4423076923076923	127	0.16754617414248021	G	11.01	1.514300	0.27123	0.161144	0.169302	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.40225	1.04;1.04	4.56	3.67	0.42095	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.075423	0.48286	U	0.000182	T	0.00012	0.0000	M	0.90369	3.11	0.43203	P	0.004940999999999973	D;D	0.89917	1.0;1.0	D;D	0.83275	0.951;0.996	T	0.38090	-0.9677	9	0.87932	D	0	.	8.6441	0.33994	0.0835:0.1509:0.7656:0.0	rs57006764;rs61740800	789;1003	P20742-2;P20742	.;PZP_HUMAN	M	1003;789	ENSP00000261336:T1003M;ENSP00000371427:T789M	ENSP00000261336:T1003M	T	-	2	0	PZP	9204218	0.993000	0.37304	0.031000	0.17742	0.009000	0.06853	2.458000	0.45014	1.044000	0.40200	0.563000	0.77884	ACG	G|0.805;A|0.195	0.195	strong		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9312951	G	A	9312951	3	1	27	1	0	0	0	0	1	0	0	0	12869	1145	40	1	1492	1	PZP	12	9312951	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		9312951	124538944	366	22054										
KLRC2	3823	hgsc.bcm.edu	37	chr12	10588444	10588444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cccttgatgattcagggaagGattttgaagatttaattcta	9	5	2	4	rs111237999	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:10588444G>C	ENST00000539033.1	-	1	156	c.142C>G	c.(142-144)Cct>Gct	p.P48A	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.P48A|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48A																							TTCAGGGAAGGATTTTGAAGA	0.363													G|||	125	0.0249601	0.0386	0.0101	5008	,	,		16153	0.0298		0.0268	False		,,,				2504	0.0102				p.P48A		Atlas-SNP	.											KLRC2,NS,carcinoma,+1,1	KLRC2	29	1	0			c.C142G						scavenged	.						94	104	101					12																	10588444		1994	3988	5982	SO:0001583	missense	3822	exon1			GGGAAGGATTTTG																												ENST00000539033.1:c.142C>G	12.37:g.10588444G>C	ENSP00000437563:p.Pro48Ala	Somatic	242	13	0.053719		WXS	Illumina HiSeq	Phase_I	213	17	0.0798122	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.662523	0.00107	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.04119	3.7;3.7;3.7	2.57	-1.4	0.08968	.	0.714893	0.12708	N	0.445758	T	0.01222	0.0040	N	0.00637	-1.305	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46925	-0.9156	10	0.02654	T	1	.	9.8776	0.41213	0.0:0.3246:0.6754:0.0	rs34194304	34;48;48	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	A	48	ENSP00000437563:P48A;ENSP00000371327:P48A;ENSP00000371326:P48A	ENSP00000371326:P48A	P	-	1	0	KLRC2;RP11-277P12.6	10479711	0.000000	0.05858	0.020000	0.16555	0.010000	0.07245	-0.911000	0.04050	-0.034000	0.13713	-1.406000	0.01132	CCT	.	.	weak		0.363	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			C	10588444	G	C	10588444	3	2	27	1	0	0	0	0	1	0	0	0	8416	1174	41	4	577	4	KLRC2	12	10588444	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1275493	10588444	123263451	367	22055										
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11149711	11149711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttaagacaatttcttttggtCgcatcttaaaattccaaaac	4	8	2	1	rs10845279	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11149711C>A	ENST00000538986.1	-	1	763	c.764G>T	c.(763-765)cGa>cTa	p.R255L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	255			R -> L (in dbSNP:rs10845279). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R255Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCTTTTGGTCGCATCTTAAA	0.373													C|||	2119	0.423123	0.0651	0.3847	5008	,	,		18928	0.755		0.3827	False		,,,				2504	0.6339				p.R255L		Atlas-SNP	.											TAS2R20,colon,carcinoma,0,1	TAS2R20	17	1	1	Substitution - Missense(1)	large_intestine(1)	c.G764T						scavenged	.	C	LEU/ARG	442,3964	212.8+/-232.6	18,406,1779	110	109	109		764	-5.3	0	12	dbSNP_120	109	3016,5584	465.2+/-366.4	544,1928,1828	yes	missense	TAS2R20	NM_176889.2	102	562,2334,3607	AA,AC,CC		35.0698,10.0318,26.5877	benign	255/310	11149711	3458,9548	2203	4300	6503	SO:0001583	missense	259295	exon1			TTTGGTCGCATCT	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.764G>T	12.37:g.11149711C>A	ENSP00000441624:p.Arg255Leu	Somatic	241	0	0		WXS	Illumina HiSeq	Phase_I	225	8	0.0355556	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	C	0.008	-1.921931	0.00498	0.100318	0.350698	ENSG00000255837	ENST00000538986	T	0.00753	5.74	2.66	-5.32	0.02722	.	2.067560	0.05057	N	0.479233	T	0.00012	0.0000	N	0.00017	-2.83	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46638	-0.9177	9	0.02654	T	1	.	4.8332	0.13451	0.2999:0.1236:0.0:0.5765	rs10845279;rs60755728;rs10845279	255	P59543	T2R20_HUMAN	L	255	ENSP00000441624:R255L	ENSP00000441624:R255L	R	-	2	0	TAS2R20	11040978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.312000	0.02720	-1.408000	0.02040	-0.383000	0.06682	CGA	C|0.671;A|0.329	0.329	strong		0.373	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		A	11149711	C	A	11149711	3	1	27	1	0	0	0	0	1	0	0	0	15568	884	31	4	169	4	TAS2R20	12	11149711	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	561267	11149711	122702184	368	22056										
TAS2R20	259295	hgsc.bcm.edu	37	chr12	11149769	11149769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagtaaatggcaagtaataTgaggaaggaggtcacagttt	12	3	1	1	rs10845281	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11149769T>C	ENST00000538986.1	-	1	705	c.706A>G	c.(706-708)Ata>Gta	p.I236V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	236			I -> V (in dbSNP:rs10845281). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCAAGTAATATGAGGAAGGAG	0.393													T|||	2118	0.422923	0.0651	0.3847	5008	,	,		20724	0.755		0.3817	False		,,,				2504	0.6339				p.I236V		Atlas-SNP	.											.	TAS2R20	17	.	0			c.A706G						PASS	.	T	VAL/ILE	442,3964	212.2+/-232.1	18,406,1779	154	152	152		706	-1.6	0	12	dbSNP_120	152	3016,5584	465.5+/-366.5	544,1928,1828	yes	missense	TAS2R20	NM_176889.2	29	562,2334,3607	CC,CT,TT		35.0698,10.0318,26.5877	benign	236/310	11149769	3458,9548	2203	4300	6503	SO:0001583	missense	259295	exon1			GTAATATGAGGAA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.706A>G	12.37:g.11149769T>C	ENSP00000441624:p.Ile236Val	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	184	9	0.048913	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	898	0.41117216117216115	33	0.06707317073170732	155	0.4281767955801105	426	0.7447552447552448	284	0.37467018469656993	T	4.775	0.144169	0.09134	0.100318	0.350698	ENSG00000255837	ENST00000538986	T	0.00864	5.6	2.66	-1.57	0.08506	.	1.555360	0.04751	U	0.424564	T	0.00012	0.0000	L	0.31476	0.935	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.08166	-1.0735	9	0.62326	D	0.03	.	0.4216	0.00457	0.3201:0.1817:0.1247:0.3734	rs10845281;rs52830191;rs10845281	236	P59543	T2R20_HUMAN	V	236	ENSP00000441624:I236V	ENSP00000441624:I236V	I	-	1	0	TAS2R20	11041036	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.493000	0.06678	-2.198000	0.00308	ATA	T|0.675;C|0.325	0.325	strong		0.393	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		C	11149769	T	C	11149769	3	2	27	1	0	0	0	0	1	0	0	0	15568	1464	51	2	227	2	TAS2R20	12	11149769	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	58	11149769	122702126	369	22057										
TAS2R43	259289	hgsc.bcm.edu	37	chr12	11244725	11244725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatcttttgtctcttgaacCactcaatggaatttaccagt	6	9	3	2	rs68157013	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11244725C>G	ENST00000531678.1	-	1	187	c.104G>C	c.(103-105)tGg>tCg	p.W35S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	35				W -> S (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTCTTGAACCACTCAATGGA	0.383													.|||	3113	0.621605	0.0976	0.7118	5008	,	,		11851	0.9425		0.7525	False		,,,				2504	0.8006				p.W35S		Atlas-SNP	.											TAS2R46_ENST00000422992,NS,carcinoma,0,4	TAS2R43	19	4	0			c.G104C						PASS	.						45	39	41					12																	11244725		1858	3572	5430	SO:0001583	missense	259289	exon1			TTGAACCACTCAA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.104G>C	12.37:g.11244725C>G	ENSP00000431719:p.Trp35Ser	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	27	18	0.666667	NM_176884	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	926	0.423992673992674	31	0.06300813008130081	161	0.4447513812154696	418	0.7307692307692307	316	0.41688654353562005	-	1.291	-0.607724	0.03717	.	.	ENSG00000255374	ENST00000531678	T	0.01113	5.32	1.97	0.939	0.19506	.	.	.	.	.	T	0.00012	0.0000	H	0.97051	3.93	0.30802	P	0.739796	.	.	.	.	.	.	T	0.26573	-1.0099	6	0.72032	D	0.01	.	5.2922	0.15733	0.3385:0.6615:0.0:0.0	.	.	.	.	S	35	ENSP00000431719:W35S	ENSP00000431719:W35S	W	-	2	0	TAS2R43	11135992	0.155000	0.22806	0.246000	0.24233	0.092000	0.18411	1.065000	0.30592	0.107000	0.17824	0.184000	0.17185	TGG	C|0.597;G|0.403	0.403	strong		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		G	11244725	C	G	11244725	3	3	27	1	0	0	0	0	1	0	0	0	15578	595	21	4	829	4	TAS2R43	12	11244725	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	94956	11244725	122607170	370	22058										
PRB3	5544	hgsc.bcm.edu	37	chr12	11420773	11420773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtccttctggctttcccggaCgaggcgggggaccttgggac	16	12	1	0	rs200940772		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11420773C>T	ENST00000279573.7	-	3	545	c.410G>A	c.(409-411)cGt>cAt	p.R137H	PRB3_ENST00000381842.3_Missense_Mutation_p.R137H|PRB3_ENST00000538488.1_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	137	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> H (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGCGGGGG	0.642																																					p.R137H		Atlas-SNP	.											PRB3,NS,carcinoma,0,2	PRB3	84	2	0			c.G410A						scavenged	.						26	28	27					12																	11420773		1477	3379	4856	SO:0001583	missense	5544	exon3			CCCGGACGAGGCG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.410G>A	12.37:g.11420773C>T	ENSP00000279573:p.Arg137His	Somatic	40	2	0.05		WXS	Illumina HiSeq	Phase_I	41	5	0.121951	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	0.011	-1.697568	0.00725	.	.	ENSG00000197870	ENST00000381842	T	0.04917	3.53	0.707	-1.41	0.08941	.	21.670500	0.01603	N	0.022149	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38650	-0.9651	9	0.41790	T	0.15	.	4.061	0.09839	0.0:0.1851:0.2048:0.6101	.	137	Q04118	PRB3_HUMAN	H	137	ENSP00000371264:R137H	ENSP00000279573:R137H	R	-	2	0	PRB3	11312040	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.782000	0.04643	-2.300000	0.00658	-1.404000	0.01136	CGT	C|0.998;T|0.002	0.002	weak		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11420773	C	T	11420773	3	4	27	1	0	0	0	0	1	0	0	0	12444	536	19	1	527	1	PRB3	12	11420773	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	176048	11420773	122431122	371	22059										
PRB3	5544	hgsc.bcm.edu	37	chr12	11420904	11420904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctggctttcccggacgaggTgggggaccttgggactggtt	17	9	1	0	rs541681122		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11420904T>C	ENST00000279573.7	-	3	414	c.279A>G	c.(277-279)ccA>ccG	p.P93P	PRB3_ENST00000381842.3_Silent_p.P93P|PRB3_ENST00000538488.1_Silent_p.P93P|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	93	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCGGACGAGGTGGGGGACCTT	0.632																																					p.P93P		Atlas-SNP	.											PRB3_ENST00000538488,colon,carcinoma,0,2	PRB3	84	2	0			c.A279G						scavenged	.						144	180	168					12																	11420904		2084	4222	6306	SO:0001819	synonymous_variant	5544	exon3			ACGAGGTGGGGGA			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.279A>G	12.37:g.11420904T>C		Somatic	27	5	0.185185		WXS	Illumina HiSeq	Phase_I	40	8	0.2	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	37																																																																																				.	.	none		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		C	11420904	T	C	11420904	2	2	27	1	0	0	0	0	0	0	0	1	12444	1683	59	2		2	PRB3	12	11420904	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	131	11420904	122430991	372	22060										
PRB4	5545	hgsc.bcm.edu	37	chr12	11461738	11461738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggtttcctccttgtgggggtGgtccttgtggctttcctgga	15	9	0	0	rs79562958		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:11461738G>C	ENST00000535904.1	-	3	212	c.179C>G	c.(178-180)cCa>cGa	p.P60R	PRB4_ENST00000445719.2_Missense_Mutation_p.P60R|PRB4_ENST00000279575.1_Missense_Mutation_p.P60R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	81	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTGGGGGTGGTCCTTGTGG	0.627										HNSCC(22;0.051)																											p.P60R		Atlas-SNP	.											PRB4,NS,carcinoma,0,1	PRB4	59	1	0			c.C179G						scavenged	.						209	226	220					12																	11461738		2201	4296	6497	SO:0001583	missense	5545	exon3			GGGGGTGGTCCTT		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.179C>G	12.37:g.11461738G>C	ENSP00000442834:p.Pro60Arg	Somatic	29	2	0.0689655		WXS	Illumina HiSeq	Phase_I	47	3	0.0638298	NM_001261399	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	1.271	-0.613089	0.03690	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05786	3.39;3.39;3.39	0.956	0.01	0.14081	.	.	.	.	.	T	0.03348	0.0097	N	0.25286	0.73	0.19300	N	0.999979	B	0.11235	0.004	B	0.06405	0.002	T	0.48091	-0.9065	9	0.07644	T	0.81	.	4.8976	0.13759	0.0:0.3926:0.6074:0.0	.	60	E9PAL0	.	R	60	ENSP00000279575:P60R;ENSP00000442834:P60R;ENSP00000412740:P60R	ENSP00000279575:P60R	P	-	2	0	PRB4	11353005	0.008000	0.16893	0.012000	0.15200	0.040000	0.13550	-0.216000	0.09266	-0.009000	0.14296	-1.127000	0.01993	CCA	C|1.000;|0.000	1.000	weak		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		C	11461738	G	C	11461738	3	2	27	1	0	0	0	0	1	0	0	0	12445	1348	47	4	568	4	PRB4	12	11461738	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	40834	11461738	122390157	373	22061										
DDX47	51202	hgsc.bcm.edu	37	chr12	12967127	12967127	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggacaaaacccaccaagatCcagattgaagctattccttt	6	11	0	3	rs1051374	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:12967127C>T	ENST00000358007.3	+	2	172	c.150C>T	c.(148-150)atC>atT	p.I50I	DDX47_ENST00000352940.4_Silent_p.I50I	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	50					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CCACCAAGATCCAGATTGAAG	0.398													C|||	1937	0.386781	0.2511	0.4121	5008	,	,		23125	0.5992		0.2734	False		,,,				2504	0.4499				p.I50I		Atlas-SNP	.											.	DDX47	37	.	0			c.C150T						PASS	.	C	,	1166,3240	412.4+/-336.1	168,830,1205	308	290	296		150,150	5.3	1	12	dbSNP_86	296	2385,6215	397.3+/-345.7	330,1725,2245	yes	coding-synonymous,coding-synonymous	DDX47	NM_016355.3,NM_201224.1	,	498,2555,3450	TT,TC,CC		27.7326,26.4639,27.3028	,	50/456,50/407	12967127	3551,9455	2203	4300	6503	SO:0001819	synonymous_variant	51202	exon2			CAAGATCCAGATT	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.150C>T	12.37:g.12967127C>T		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	207	13	0.0628019	NM_201224	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Silent	SNP	ENST00000358007.3	37	CCDS8655.1																																																																																			C|0.686;T|0.314	0.314	strong		0.398	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		T	12967127	C	T	12967127	2	4	27	1	0	0	0	0	0	0	0	1	4365	845	30	2		2	DDX47	12	12967127	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1505389	12967127	120884768	374	22062										
RASSF8	11228	hgsc.bcm.edu	37	chr12	26218197	26218197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcacaggtcaatgaggaagaGgttaaaggaaagatcggtaa	14	4	1	3	rs79553120	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:26218197G>A	ENST00000405154.2	+	3	1069	c.870G>A	c.(868-870)gaG>gaA	p.E290E	RASSF8_ENST00000282884.9_Silent_p.E290E|RASSF8_ENST00000541490.1_Silent_p.E290E|RASSF8_ENST00000381352.3_Silent_p.E290E|RASSF8_ENST00000542865.1_Silent_p.E290E	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	290	Glu-rich.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGGAAGAGGTTAAAGGAA	0.443													G|||	38	0.00758786	0.0	0.0	5008	,	,		20063	0.0317		0.0	False		,,,				2504	0.0061				p.E290E		Atlas-SNP	.											RASSF8_ENST00000541490,right_lower_lobe,carcinoma,+2,4	RASSF8	56	4	0			c.G870A						scavenged	.						114	106	109					12																	26218197		2203	4300	6503	SO:0001819	synonymous_variant	11228	exon4			GGAAGAGGTTAAA	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.870G>A	12.37:g.26218197G>A		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	269	8	0.0297398	NM_007211	A8K1Z0|O95647|Q5SCI2|Q76KB6	Silent	SNP	ENST00000405154.2	37	CCDS53765.1																																																																																			G|0.992;A|0.008	0.008	strong		0.443	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		A	26218197	G	A	26218197	2	1	27	1	0	0	0	0	0	0	0	1	13092	991	35	2		2	RASSF8	12	26218197	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	13251070	26218197	107633698	375	22063										
C12orf35	55196	hgsc.bcm.edu	37	chr12	32134926	32134926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cttgaaagtaaataccaacaGcaaacagccttttaacagtc	5	10	0	1	rs3207618	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:32134926G>A	ENST00000312561.4	+	4	1451	c.1037G>A	c.(1036-1038)aGc>aAc	p.S346N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	346			S -> N (in dbSNP:rs3207618).														AATACCAACAGCAAACAGCCT	0.373													G|||	325	0.0648962	0.0113	0.0519	5008	,	,		21302	0.0387		0.0974	False		,,,				2504	0.1401				p.S346N		Atlas-SNP	.											.	.	.	.	0			c.G1037A						PASS	.	G	ASN/SER	100,4306	81.9+/-120.4	0,100,2103	86	85	85		1037	-4.9	0	12	dbSNP_105	85	776,7824	183.9+/-232.0	36,704,3560	yes	missense	C12orf35	NM_018169.3	46	36,804,5663	AA,AG,GG		9.0233,2.2696,6.7354	possibly-damaging	346/1748	32134926	876,12130	2203	4300	6503	SO:0001583	missense	55196	exon4			CCAACAGCAAACA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1037G>A	12.37:g.32134926G>A	ENSP00000310338:p.Ser346Asn	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	237	10	0.0421941	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	129	0.059065934065934064	10	0.02032520325203252	22	0.06077348066298342	25	0.043706293706293704	72	0.09498680738786279	G	11.74	1.728058	0.30593	0.022696	0.090233	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05855	4.01;3.38	4.83	-4.92	0.03075	.	1.697680	0.03571	N	0.228670	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.21917	0.037	T	0.41197	-0.9522	9	.	.	.	.	0.7298	0.00955	0.298:0.2423:0.2947:0.1649	rs3207618;rs57271607;rs3207618	346	Q9HCM1	CL035_HUMAN	N	346	ENSP00000310338:S346N;ENSP00000370442:S346N	.	S	+	2	0	C12orf35	32026193	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.552000	0.06020	-0.838000	0.04218	-0.410000	0.06199	AGC	G|0.936;A|0.064	0.064	strong		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		A	32134926	G	A	32134926	3	1	27	1	0	0	0	0	1	0	0	0	1682	971	34	2	1039	2	C12orf35	12	32134926	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5916729	32134926	101716969	376	22064										
C12orf40	283461	hgsc.bcm.edu	37	chr12	40085906	40085906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagcaagcgaatatctactaAgaaaatctgtcagtataact	6	7	3	1	rs73270414	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:40085906A>T	ENST00000324616.5	+	11	1557	c.1403A>T	c.(1402-1404)aAg>aTg	p.K468M	C12orf40_ENST00000405531.3_Missense_Mutation_p.K468M	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	468										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATATCTACTAAGAAAATCTGT	0.244													A|||	650	0.129792	0.0658	0.098	5008	,	,		13634	0.1766		0.162	False		,,,				2504	0.1575				p.K468M		Atlas-SNP	.											C12orf40,fourth_ventricle,glioma,0,1	C12orf40	118	1	0			c.A1403T						scavenged	.	A	MET/LYS	277,3257		11,255,1501	28	26	27		1403	1.7	0.4	12	dbSNP_130	27	1306,6626		108,1090,2768	yes	missense	C12orf40	NM_001031748.2	95	119,1345,4269	TT,TA,AA		16.465,7.8381,13.806	benign	468/653	40085906	1583,9883	1767	3966	5733	SO:0001583	missense	283461	exon11			CTACTAAGAAAAT	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1403A>T	12.37:g.40085906A>T	ENSP00000317671:p.Lys468Met	Somatic	492	3	0.00609756		WXS	Illumina HiSeq	Phase_I	536	14	0.0261194	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	281	0.12866300366300365	29	0.05894308943089431	40	0.11049723756906077	97	0.16958041958041958	115	0.1517150395778364	A	4.175	0.031040	0.08101	0.078381	0.16465	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.53206	0.63;0.72	2.84	1.66	0.24008	.	0.915548	0.09122	N	0.845588	T	0.00109	0.0003	N	0.24115	0.695	0.33319	P	0.432906	B	0.16603	0.018	B	0.20767	0.031	T	0.12760	-1.0535	9	0.38643	T	0.18	.	5.995	0.19489	0.7306:0.2694:0.0:0.0	.	468	Q86WS4	CL040_HUMAN	M	468	ENSP00000383897:K468M;ENSP00000317671:K468M	ENSP00000317671:K468M	K	+	2	0	C12orf40	38372173	0.046000	0.20272	0.429000	0.26710	0.178000	0.23041	0.308000	0.19314	0.475000	0.27415	0.379000	0.24179	AAG	A|0.858;T|0.142	0.142	strong		0.244	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40085906	A	T	40085906	3	4	27	1	0	0	0	0	1	0	0	0	1686	72	3	5	1445	5	C12orf40	12	40085906	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7950980	40085906	93765989	377	22065										
PDZRN4	29951	hgsc.bcm.edu	37	chr12	41946463	41946463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtgttgttctttcaggaggtCgagttgtgtcgtgttagcag	15	5	2	0	rs74569207	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:41946463C>T	ENST00000402685.2	+	6	1217	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	PDZRN4_ENST00000298919.7_Silent_p.V143V|PDZRN4_ENST00000539469.2_Silent_p.V145V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	403	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCAGGAGGTCGAGTTGTGTC	0.443													C|||	83	0.0165735	0.0	0.0	5008	,	,		17760	0.0823		0.0	False		,,,				2504	0.0				p.V403V		Atlas-SNP	.											.	PDZRN4	346	.	0			c.C1209T						PASS	.	C	,	0,4406		0,0,2203	161	143	149		1209,435	1.1	1	12	dbSNP_132	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PDZRN4	NM_001164595.1,NM_013377.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	403/1037,145/779	41946463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29951	exon6			GGAGGTCGAGTTG	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1209C>T	12.37:g.41946463C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	58	4	0.0689655	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																			C|0.991;T|0.009	0.009	strong		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41946463	C	T	41946463	2	4	27	1	0	0	0	0	0	0	0	1	11710	871	31	1		1	PDZRN4	12	41946463	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1860557	41946463	91905432	378	22066										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43769276	43769276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcacattcacagtcttccctTctactcccattaaaaggaca	3	14	4	0	rs10880473	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:43769276T>C	ENST00000389420.3	-	36	5351	c.5352A>G	c.(5350-5352)agA>agG	p.R1784R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1784	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCTTCCCTTCTACTCCCAT	0.348													C|||	1121	0.223842	0.4266	0.1239	5008	,	,		18065	0.1002		0.1998	False		,,,				2504	0.1728				p.R1784R		Atlas-SNP	.											ADAMTS20_ENST00000389420,neck,malignant_melanoma,-2,1	ADAMTS20	635	1	0			c.A5352G						PASS	.	C		1647,2759	659.9+/-400.6	316,1015,872	156	153	154		5352	2	1	12	dbSNP_120	154	1768,6832	734.1+/-406.9	182,1404,2714	no	coding-synonymous	ADAMTS20	NM_025003.3		498,2419,3586	CC,CT,TT		20.5581,37.3808,26.2571		1784/1911	43769276	3415,9591	2203	4300	6503	SO:0001819	synonymous_variant	80070	exon36			TTCCCTTCTACTC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5352A>G	12.37:g.43769276T>C		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	104	5	0.0480769	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			T|0.747;C|0.253	0.253	strong		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769276	T	C	43769276	2	2	27	1	0	0	0	0	0	0	0	1	266	1780	62	2		2	ADAMTS20	12	43769276	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1822813	43769276	90082619	379	22067										
TWF1	5756	hgsc.bcm.edu	37	chr12	44196125	44196125	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaccatgcaatgaatatccaTtcatatccctgggcattctg	7	11	2	1	rs112006889	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:44196125T>C	ENST00000395510.2	-	3	375	c.246A>G	c.(244-246)gaA>gaG	p.E82E	TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000325127.4_Silent_p.E116E|TWF1_ENST00000548315.1_Silent_p.E82E	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	82	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGAATATCCATTCATATCCCT	0.328													T|||	248	0.0495208	0.0393	0.072	5008	,	,		16572	0.0556		0.0119	False		,,,				2504	0.0798				p.E82E		Atlas-SNP	.											TWF1,NS,carcinoma,-2,1	TWF1	37	1	0			c.A246G						scavenged	.	T	,	136,4270	94.8+/-133.5	2,132,2069	51	55	54		246,246	-3.7	1	12	dbSNP_132	54	156,8440	73.2+/-135.9	2,152,4144	no	coding-synonymous,coding-synonymous	TWF1	NM_001242397.1,NM_002822.4	,	4,284,6213	CC,CT,TT		1.8148,3.0867,2.2458	,	82/358,82/351	44196125	292,12710	2203	4298	6501	SO:0001819	synonymous_variant	5756	exon3			TATCCATTCATAT	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.246A>G	12.37:g.44196125T>C		Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	330	8	0.0242424	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	ENST00000395510.2	37	CCDS31780.2																																																																																			T|0.973;C|0.027	0.027	strong		0.328	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		C	44196125	T	C	44196125	2	2	27	1	0	0	0	0	0	0	0	1	16778	1490	52	2		2	TWF1	12	44196125	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	426849	44196125	89655770	380	22068										
SENP1	29843	hgsc.bcm.edu	37	chr12	48477422	48477422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgagttttcttggggctcaaAagacttcgacgacatgaacc	10	9	2	3	rs886588	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:48477422A>G	ENST00000004980.5	-	6	982	c.504T>C	c.(502-504)ctT>ctC	p.L168L	SENP1_ENST00000549518.1_Silent_p.L168L|SENP1_ENST00000448372.1_Silent_p.L168L|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000339976.6_3'UTR|RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000549595.1_Silent_p.L168L|SENP1_ENST00000551330.1_Silent_p.L168L			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	168	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.L168L(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGGGGCTCAAAAGACTTCGAC	0.408													A|||	803	0.160343	0.053	0.1744	5008	,	,		18083	0.2371		0.2177	False		,,,				2504	0.1575				p.L168L		Atlas-SNP	.											SENP1,NS,carcinoma,0,1	SENP1	44	1	1	Substitution - coding silent(1)	stomach(1)	c.T504C						scavenged	.	A		253,3463		11,231,1616	120	111	114		504	1.8	1	12	dbSNP_86	114	1803,6381		192,1419,2481	no	coding-synonymous	SENP1	NM_014554.2		203,1650,4097	GG,GA,AA		22.0308,6.8084,17.2773		168/644	48477422	2056,9844	1858	4092	5950	SO:0001819	synonymous_variant	29843	exon6			GCTCAAAAGACTT	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.504T>C	12.37:g.48477422A>G		Somatic	112	1	0.00892857		WXS	Illumina HiSeq	Phase_I	140	2	0.0142857	NM_001267594	A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	CCDS44868.2																																																																																			A|0.817;G|0.183	0.183	strong		0.408	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		G	48477422	A	G	48477422	2	3	27	1	0	0	0	0	0	0	0	1	14046	1	1	2		2	SENP1	12	48477422	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	4281297	48477422	85374473	381	22069										
KRT83	3889	hgsc.bcm.edu	37	chr12	52710309	52710309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggatcatgcggttcagctcGttgatctcctccttggtgcg	12	11	3	1	rs2257286	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:52710309G>A	ENST00000293670.3	-	6	1046	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	328	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.N328N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTTCAGCTCGTTGATCTCCT	0.602													g|||	1882	0.375799	0.5008	0.317	5008	,	,		19119	0.1885		0.4095	False		,,,				2504	0.407				p.N328N	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	Atlas-SNP	.											KRT83,NS,carcinoma,0,1	KRT83	64	1	1	Substitution - coding silent(1)	stomach(1)	c.C984T						PASS	.	G		2156,2250	582.3+/-385.5	551,1054,598	127	101	110		984	-1.3	1	12	dbSNP_100	110	3529,5067	514.6+/-378.4	722,2085,1491	no	coding-synonymous	KRT83	NM_002282.3		1273,3139,2089	AA,AG,GG		41.054,48.9333,43.724		328/494	52710309	5685,7317	2203	4298	6501	SO:0001819	synonymous_variant	3889	exon6			CAGCTCGTTGATC	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.984C>T	12.37:g.52710309G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	89	6	0.0674157	NM_002282	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	CCDS8823.1																																																																																			.	.	weak		0.602	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		A	52710309	G	A	52710309	2	1	27	1	0	0	0	0	0	0	0	1	8497	1136	40	1		1	KRT83	12	52710309	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4232887	52710309	81141586	382	22070										
KRT6C	286887	hgsc.bcm.edu	37	chr12	52863038	52863038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctaagccactgccgacaccGctggcaccgccatagccact	8	19	0	0	rs410562	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:52863038G>A	ENST00000252250.6	-	9	1550	c.1503C>T	c.(1501-1503)agC>agT	p.S501S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	501	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCCGACACCGCTGGCACCGC	0.612													G|||	1253	0.2502	0.0242	0.2651	5008	,	,		19993	0.4812		0.3628	False		,,,				2504	0.1912				p.S501S		Atlas-SNP	.											.	KRT6C	55	.	0			c.C1503T						PASS	.	G		314,4092	166.2+/-197.5	15,284,1904	42	40	41		1503	-6.3	0	12	dbSNP_80	41	3150,5450	457.5+/-364.3	579,1992,1729	no	coding-synonymous	KRT6C	NM_173086.4		594,2276,3633	AA,AG,GG		36.6279,7.1266,26.6339		501/565	52863038	3464,9542	2203	4300	6503	SO:0001819	synonymous_variant	286887	exon9			GACACCGCTGGCA	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1503C>T	12.37:g.52863038G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	136	8	0.0588235	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																			G|0.731;A|0.269	0.269	strong		0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52863038	G	A	52863038	2	1	27	1	0	0	0	0	0	0	0	1	8482	1078	38	1		1	KRT6C	12	52863038	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	152729	52863038	80988857	383	22071										
SP1	6667	hgsc.bcm.edu	37	chr12	53776587	53776587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccagctctcaggcagtcacgAtcagcagctctgggtcccag	11	15	4	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:53776587A>G	ENST00000327443.4	+	3	954	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	SP1_ENST00000426431.2_Missense_Mutation_p.I279V	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	286	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGCAGTCACGATCAGCAGCTC	0.552																																					p.I286V		Atlas-SNP	.											.	SP1	57	.	0			c.A856G						PASS	.						154	137	143					12																	53776587		2203	4300	6503	SO:0001583	missense	6667	exon3			GTCACGATCAGCA	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.856A>G	12.37:g.53776587A>G	ENSP00000329357:p.Ile286Val	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	117	6	0.0512821	NM_138473	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	7.701	0.693035	0.15039	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08720	3.09;3.06	4.3	4.3	0.51218	.	0.107759	0.39834	N	0.001248	T	0.03739	0.0106	N	0.08118	0	0.22127	N	0.999343	B	0.06786	0.001	B	0.04013	0.001	T	0.37454	-0.9705	10	0.27785	T	0.31	.	5.2784	0.15663	0.643:0.1818:0.0:0.1751	.	286	P08047	SP1_HUMAN	V	286;279	ENSP00000329357:I286V;ENSP00000404263:I279V	ENSP00000329357:I286V	I	+	1	0	SP1	52062854	0.002000	0.14202	0.981000	0.43875	0.923000	0.55619	0.979000	0.29500	1.943000	0.56356	0.383000	0.25322	ATC	.	.	none		0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			G	53776587	A	G	53776587	3	3	27	1	0	0	0	0	1	0	0	0	14959	333	12	2	866	2	SP1	12	53776587	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	913549	53776587	80075308	384	22072										
ITGA5	3678	hgsc.bcm.edu	37	chr12	54795600	54795600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctggatggttttcttagtgtCccggagatgagggactgtaa	14	6	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:54795600C>T	ENST00000293379.4	-	22	2527	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	756					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTCTTAGTGTCCCGGAGATGA	0.567																																					p.D756N		Atlas-SNP	.											.	ITGA5	99	.	0			c.G2266A						PASS	.						104	103	104					12																	54795600		2203	4300	6503	SO:0001583	missense	3678	exon22			TAGTGTCCCGGAG		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2266G>A	12.37:g.54795600C>T	ENSP00000293379:p.Asp756Asn	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	106	42	0.396226	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906611	0.92107	.	.	ENSG00000161638	ENST00000293379	T	0.45668	0.89	5.15	5.15	0.70609	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55477	-0.8135	10	0.44086	T	0.13	.	16.4804	0.84157	0.0:1.0:0.0:0.0	.	756	P08648	ITA5_HUMAN	N	756	ENSP00000293379:D756N	ENSP00000293379:D756N	D	-	1	0	ITGA5	53081867	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.874000	0.75546	2.567000	0.86603	0.655000	0.94253	GAC	.	.	none		0.567	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54795600	C	T	54795600	3	4	27	1	0	0	0	0	1	0	0	0	7879	855	30	2	919	2	ITGA5	12	54795600	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1019013	54795600	79056295	385	22073										
HELB	92797	hgsc.bcm.edu	37	chr12	66717784	66717784	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaccatcagagtagacttgtTtttggaattggtgataaaat	10	4	1	3	rs35536133	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:66717784T>A	ENST00000247815.4	+	10	2378	c.2319T>A	c.(2317-2319)gtT>gtA	p.V773V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	773					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTAGACTTGTTTTTGGAATTG	0.343													A|||	655	0.130791	0.2814	0.0375	5008	,	,		17082	0.1498		0.0199	False		,,,				2504	0.0879				p.V773V		Atlas-SNP	.											.	HELB	90	.	0			c.T2319A						PASS	.	A		1029,3377	726.8+/-409.8	126,777,1300	131	146	141		2319	-7.5	0	12	dbSNP_126	141	101,8499	814.5+/-407.0	0,101,4199	no	coding-synonymous	HELB	NM_033647.2		126,878,5499	AA,AT,TT		1.1744,23.3545,8.6883		773/1088	66717784	1130,11876	2203	4300	6503	SO:0001819	synonymous_variant	92797	exon10			ACTTGTTTTTGGA	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2319T>A	12.37:g.66717784T>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	120	7	0.0583333	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																			T|0.913;A|0.087	0.087	strong		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			A	66717784	T	A	66717784	2	1	27	1	0	0	0	0	0	0	0	1	7045	1828	64	5		5	HELB	12	66717784	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	11922184	66717784	67134111	386	22074										
IKBIP	121457	hgsc.bcm.edu	37	chr12	99007623	99007623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagaactttggctctgtcacCttctaagcttagaaatctat	6	10	4	2	rs1048906	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:99007623C>T	ENST00000342502.2	-	3	1204	c.793G>A	c.(793-795)Ggt>Agt	p.G265S	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G159S	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	265			G -> S (in dbSNP:rs1048906).		response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCTCTGTCACCTTCTAAGCTT	0.358													T|||	1956	0.390575	0.5295	0.3329	5008	,	,		19240	0.3492		0.2982	False		,,,				2504	0.3814				p.G265S		Atlas-SNP	.											.	IKBIP	46	.	0			c.G793A						PASS	.	T	SER/GLY,	2199,2205	588.1+/-386.8	566,1067,569	127	131	129		793,	1.9	1	12	dbSNP_86	129	2699,5899	681.8+/-403.7	424,1851,2024	yes	missense,utr-3	IKBIP	NM_201612.1,NM_201613.1	56,	990,2918,2593	TT,TC,CC		31.391,49.9319,37.6711	,	265/351,	99007623	4898,8104	2202	4299	6501	SO:0001583	missense	121457	exon3			TGTCACCTTCTAA	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.793G>A	12.37:g.99007623C>T	ENSP00000343471:p.Gly265Ser	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	134	6	0.0447761	NM_201612	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	779	0.3566849816849817	243	0.49390243902439024	120	0.3314917127071823	187	0.3269230769230769	229	0.3021108179419525	T	1.750	-0.489406	0.04352	0.499319	0.31391	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.38077	1.16;1.3	5.54	1.86	0.25419	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.47837	-0.9086	8	0.02654	T	1	.	9.8834	0.41247	0.0:0.3942:0.0:0.6058	rs1048906;rs3168530;rs17846476;rs17859535;rs59586369;rs1048906	265	Q70UQ0	IKIP_HUMAN	S	265;159	ENSP00000343471:G265S;ENSP00000398023:G159S	ENSP00000343471:G265S	G	-	1	0	IKBIP	97531754	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.688000	0.37690	0.061000	0.16311	-1.213000	0.01624	GGT	C|0.625;T|0.374	0.374	strong		0.358	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		T	99007623	C	T	99007623	3	4	27	1	0	0	0	0	1	0	0	0	7609	681	24	2	263	2	IKBIP	12	99007623	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	32289839	99007623	34844272	387	22075										
KCTD10	83892	hgsc.bcm.edu	37	chr12	109889615	109889615	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatccgggcttcgggaaactCcacctgtgttcccacagtat	9	13	0	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:109889615C>G	ENST00000228495.6	-	7	1008	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	KCTD10_ENST00000540089.1_Missense_Mutation_p.E62Q|KCTD10_ENST00000424763.2_Missense_Mutation_p.E62Q|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.E217Q	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	243					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TCGGGAAACTCCACCTGTGTT	0.582																																					p.E243Q		Atlas-SNP	.											KCTD10,NS,carcinoma,0,1	KCTD10	24	1	0			c.G727C						PASS	.						25	28	27					12																	109889615		2203	4300	6503	SO:0001583	missense	83892	exon7			GAAACTCCACCTG	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.727G>C	12.37:g.109889615C>G	ENSP00000228495:p.Glu243Gln	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	71	24	0.338028	NM_031954	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.138586|4.138586	0.77775|0.77775	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355|ENST00000538161	T;T|.	0.58060|.	0.51;0.36|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.051633|.	0.85682|.	D|.	0.000000|.	T|T	0.79275|0.79275	0.4418|0.4418	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.998|.	D;D;D|.	0.83275|.	0.988;0.996;0.974|.	T|T	0.80683|0.80683	-0.1273|-0.1273	10|5	0.87932|.	D|.	0|.	-31.0378|-31.0378	17.765|17.765	0.88475|0.88475	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217;220;243|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	Q|C	243;62;85;62;217;62;62;62;62|208	ENSP00000228495:E243Q;ENSP00000441672:E217Q|.	ENSP00000228495:E243Q|.	E|W	-|-	1|3	0|0	KCTD10|KCTD10	108373998|108373998	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.476000|0.476000	0.33039|0.33039	7.622000|7.622000	0.83099|0.83099	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GAG|TGG	.	.	none		0.582	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		G	109889615	C	G	109889615	3	3	27	1	0	0	0	0	1	0	0	0	8097	864	30	4	218	4	KCTD10	12	109889615	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	10881992	109889615	23962280	388	22076										
C12orf51	283450	hgsc.bcm.edu	37	chr12	112654162	112654162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	actggagccattatagtgcaCggctcggccgttgctatgaa	12	10	0	1	rs372438469		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:112654162C>T	ENST00000430131.2	-	47	7278	c.6133G>A	c.(6133-6135)Gtg>Atg	p.V2045M	HECTD4_ENST00000550722.1_Missense_Mutation_p.V2321M|HECTD4_ENST00000377560.5_Missense_Mutation_p.V2295M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2045					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)										TTATAGTGCACGGCTCGGCCG	0.507																																					p.V2333M		Atlas-SNP	.											C12orf51_ENST00000377560,colon,carcinoma,0,2	.	.	2	0			c.G6997A						scavenged	.	C	MET/VAL	0,3730		0,0,1865	23	24	24		6883	5.7	0.9	12		24	1,8127		0,1,4063	no	missense	C12orf51	NM_001109662.2	21	0,1,5928	TT,TC,CC		0.0123,0.0,0.0084	probably-damaging	2295/4247	112654162	1,11857	1865	4064	5929	SO:0001583	missense	283450	exon48			AGTGCACGGCTCG	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.6133G>A	12.37:g.112654162C>T	ENSP00000404379:p.Val2045Met	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	131	3	0.0229008	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521168	0.64747	0.0	1.23E-4	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	.	.	.	.	.	T	0.41096	0.1144	N	0.14661	0.345	0.54753	D	0.999985	D	0.54047	0.964	B	0.41646	0.362	T	0.50065	-0.8871	9	0.87932	D	0	.	19.3194	0.94231	0.0:1.0:0.0:0.0	.	2045	Q9Y4D8	K0614_HUMAN	M	2295;2045;2321	ENSP00000366783:V2295M;ENSP00000404379:V2045M;ENSP00000449784:V2321M	ENSP00000366783:V2295M	V	-	1	0	C12orf51	111138545	1.000000	0.71417	0.917000	0.36280	0.032000	0.12392	7.434000	0.80377	2.659000	0.90383	0.655000	0.94253	GTG	.	.	weak		0.507	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112654162	C	T	112654162	3	4	27	1	0	0	0	0	1	0	0	0	1696	536	19	1	5973	1	C12orf51	12	112654162	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2764547	112654162	21197733	389	22077										
RBM19	9904	hgsc.bcm.edu	37	chr12	114377885	114377885	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggctgccaaaatggccgaaGgtctcctgcagctgggccgc	14	13	1	0	rs2290790	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:114377885G>C	ENST00000545145.2	-	15	1896	c.1818C>G	c.(1816-1818)acC>acG	p.T606T	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Silent_p.T606T|RBM19_ENST00000392561.3_Silent_p.T606T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	606	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AATGGCCGAAGGTCTCCTGCA	0.632													G|||	1099	0.219449	0.0688	0.2565	5008	,	,		17610	0.1756		0.3191	False		,,,				2504	0.3395				p.T606T		Atlas-SNP	.											.	RBM19	117	.	0			c.C1818G						PASS	.	G	,,	469,3937	221.0+/-238.3	31,407,1765	67	72	70		1818,1818,1818	0.1	0.2	12	dbSNP_100	70	2825,5775	441.5+/-359.8	470,1885,1945	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	501,2292,3710	CC,CG,GG		32.8488,10.6446,25.3268	,,	606/961,606/961,606/961	114377885	3294,9712	2203	4300	6503	SO:0001819	synonymous_variant	9904	exon15			GCCGAAGGTCTCC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1818C>G	12.37:g.114377885G>C		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			G|0.761;C|0.239	0.239	strong		0.632	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		C	114377885	G	C	114377885	2	2	27	1	0	0	0	0	0	0	0	1	13121	987	35	4		4	RBM19	12	114377885	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1723723	114377885	19474010	390	22078										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124274474	124274474	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgttccgtttgattggacagAttttggaggaattttataac	10	4	0	2	rs10846559	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr12:124274474A>G	ENST00000409039.3	+	11	1463	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	480	Stem. {ECO:0000250}.		I -> V (in dbSNP:rs10846559). {ECO:0000269|PubMed:14702039}.		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTGGACAGATTTTGGAGGA	0.443													G|||	4196	0.837859	0.8775	0.7738	5008	,	,		18865	0.998		0.7127	False		,,,				2504	0.7935				p.I480V		Atlas-SNP	.											.	DNAH10	888	.	0			c.A1438G						PASS	.	G	VAL/ILE	3743,663	281.1+/-275.7	1587,569,47	71	75	74		1438	5.2	1	12	dbSNP_120	74	5759,2841	447.5+/-361.5	1955,1849,496	yes	missense-near-splice	DNAH10	NM_207437.3	29	3542,2418,543	GG,GA,AA		33.0349,15.0477,26.9414	benign	480/4472	124274474	9502,3504	2203	4300	6503	SO:0001630	splice_region_variant	196385	exon11			GGACAGATTTTGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1438-1A>G	12.37:g.124274474A>G		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	118	10	0.0847458	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	1809	0.8282967032967034	421	0.8556910569105691	283	0.7817679558011049	571	0.9982517482517482	534	0.7044854881266491	G	0.183	-1.060517	0.01950	0.849523	0.669651	ENSG00000197653	ENST00000409039	T	0.55052	0.54	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.410436	0.20194	N	0.097259	T	0.00012	0.0000	N	0.00185	-1.9	0.50313	P	1.3900000000000023E-4	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	8	.	.	.	.	12.3487	0.55136	0.079:0.0:0.921:0.0	rs10846559;rs58161138;rs10846559	480	Q8IVF4	DYH10_HUMAN	V	480	ENSP00000386770:I480V	.	I	+	1	0	DNAH10	122840427	1.000000	0.71417	0.973000	0.42090	0.431000	0.31685	3.354000	0.52254	1.222000	0.43521	-0.222000	0.12452	ATT	A|0.235;G|0.765	0.765	strong		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	G	124274474	A	G	124274474	5	3	27	1	0	0	0	0	0	0	1	0	4598	347	12	2	1480	2	DNAH10	12	124274474	Splice_Site	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	9896589	124274474	9577421	391	22079										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20067011	20067011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttactgataggtgacaccAgggctgctcctttaaattca	8	9	1	2	rs76437836	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:20067011A>C	ENST00000400230.2	-	3	142	c.98T>G	c.(97-99)cTg>cGg	p.L33R	TPTE2_ENST00000382978.1_Missense_Mutation_p.L33R|TPTE2_ENST00000382975.4_Missense_Mutation_p.L33R|TPTE2_ENST00000255310.6_Missense_Mutation_p.L33R|TPTE2_ENST00000382977.4_Missense_Mutation_p.L33R|TPTE2_ENST00000457266.2_Missense_Mutation_p.L33R|TPTE2_ENST00000400103.2_Missense_Mutation_p.L33R|TPTE2_ENST00000390680.2_Missense_Mutation_p.L33R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	33					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L33R(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGGTGACACCAGGGCTGCTCC	0.373																																					p.L33R		Atlas-SNP	.											TPTE2_ENST00000400230,adrenal_gland,adrenal_cortical_adenoma,0,3	TPTE2	225	3	1	Substitution - Missense(1)	pancreas(1)	c.T98G						scavenged	.						135	115	122					13																	20067011		2203	4300	6503	SO:0001583	missense	93492	exon4			GACACCAGGGCTG	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.98T>G	13.37:g.20067011A>C	ENSP00000383089:p.Leu33Arg	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	153	7	0.0457516	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	0.031	-1.334344	0.01287	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.95171	-3.53;-3.51;-3.43;-3.63;-3.63;-3.43;-3.53;-3.51	0.785	-1.57	0.08506	.	0.817016	0.10002	N	0.728341	D	0.84629	0.5514	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.68591	-0.5368	9	.	.	.	5.8346	1.8764	0.03219	0.3863:0.3084:0.0:0.3053	.	33;33;33	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	R	33	ENSP00000372438:L33R;ENSP00000382974:L33R;ENSP00000383089:L33R;ENSP00000255310:L33R;ENSP00000375098:L33R;ENSP00000372437:L33R;ENSP00000372435:L33R;ENSP00000442218:L33R	.	L	-	2	0	TPTE2	18965011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.053000	0.01400	-1.334000	0.02244	-2.170000	0.00323	CTG	A|0.375;C|0.625	0.625	strong		0.373	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		C	20067011	A	C	20067011	3	2	27	1	0	0	0	0	1	0	0	0	16428	188	7	5	1542	5	TPTE2	13	20067011	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10		20067011	95102867	392	22080										
SACS	26278	hgsc.bcm.edu	37	chr13	23929842	23929842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agaaagagcagcactgtgtcTgcatctgccctaaaagactc	9	11	2	3	rs41315020	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:23929842T>C	ENST00000382292.3	-	7	1182	c.909A>G	c.(907-909)gcA>gcG	p.A303A	SACS_ENST00000382298.3_Silent_p.A303A|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	303					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.A156A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCACTGTGTCTGCATCTGCCC	0.443													T|||	255	0.0509185	0.0113	0.0288	5008	,	,		20441	0.1627		0.0378	False		,,,				2504	0.0184				p.A303A		Atlas-SNP	.											SACS,NS,carcinoma,0,1	SACS	871	1	1	Substitution - coding silent(1)	stomach(1)	c.A909G						scavenged	.	T		104,4302	81.9+/-120.4	0,104,2099	97	96	96		909	-7.7	0.8	13	dbSNP_127	96	364,8236	121.3+/-180.4	3,358,3939	no	coding-synonymous	SACS	NM_014363.4		3,462,6038	CC,CT,TT		4.2326,2.3604,3.5983		303/4580	23929842	468,12538	2203	4300	6503	SO:0001819	synonymous_variant	26278	exon8			TGTGTCTGCATCT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.909A>G	13.37:g.23929842T>C		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	175	6	0.0342857	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2	129	0.059065934065934064	11	0.022357723577235773	12	0.03314917127071823	77	0.1346153846153846	29	0.03825857519788918	T	10.28	1.306139	0.23736	0.023604	0.042326	ENSG00000151835	ENST00000455470	.	.	.	5.86	-7.73	0.01245	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.25745	-1.0123	3	.	.	.	.	0.0814	0.00032	0.2669:0.2137:0.1838:0.3356	rs41315020;rs57420292;rs61736775	.	.	.	G	203	.	.	R	-	1	2	SACS	22827842	0.023000	0.18921	0.775000	0.31657	0.974000	0.67602	-0.897000	0.04110	-1.501000	0.01817	-0.309000	0.09137	AGA	T|0.956;C|0.044	0.044	strong		0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23929842	T	C	23929842	2	2	27	1	0	0	0	0	0	0	0	1	13804	1567	55	3		3	SACS	13	23929842	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3862831	23929842	91240036	393	22081										
ATP8A2	51761	hgsc.bcm.edu	37	chr13	26043182	26043182	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcccgggccacgtctgttggAgaccagctggaggcacccgc	14	15	1	1	rs7317185	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:26043182A>C	ENST00000381655.2	+	2	286	c.144A>C	c.(142-144)ggA>ggC	p.G48G	ATP8A2_ENST00000255283.8_Silent_p.G8G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	8					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGTCTGTTGGAGACCAGCTGG	0.582													A|||	1022	0.204073	0.354	0.1484	5008	,	,		9431	0.119		0.1998	False		,,,				2504	0.1329				p.G48G		Atlas-SNP	.											ATP8A2,colon,carcinoma,0,1	ATP8A2	181	1	0			c.A144C						scavenged	.	A		1226,2880		185,856,1012	77	86	83		144	0.1	1	13	dbSNP_116	83	1789,6605		191,1407,2599	no	coding-synonymous	ATP8A2	NM_016529.4		376,2263,3611	CC,CA,AA		21.3128,29.8587,24.12		48/1189	26043182	3015,9485	2053	4197	6250	SO:0001819	synonymous_variant	51761	exon2			TGTTGGAGACCAG	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.144A>C	13.37:g.26043182A>C		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1	455	0.20833333333333334	166	0.33739837398373984	68	0.1878453038674033	75	0.13111888111888112	146	0.19261213720316622	A	12.71	2.020365	0.35606	0.298587	0.213128	ENSG00000132932	ENST00000544544	.	.	.	4.16	0.119	0.14685	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.42310	-0.9459	4	0.11485	T	0.65	.	0.3655	0.00371	0.3332:0.1995:0.2735:0.1938	rs7317185;rs7317185	.	.	.	A	10	.	ENSP00000444329:E10A	E	+	2	0	ATP8A2	24941182	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.074000	0.30703	0.144000	0.18951	0.329000	0.21502	GAG	A|0.790;C|0.210	0.210	strong		0.582	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		C	26043182	A	C	26043182	2	2	27	1	0	0	0	0	0	0	0	1	1193	291	11	5		5	ATP8A2	13	26043182	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2113340	26043182	89126696	394	22082										
SHISA2	387914	hgsc.bcm.edu	37	chr13	26620777	26620777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctgtcatgggcacagagtcGtgctgcaccgtgtaccccac	12	14	1	1	rs77556088	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:26620777G>A	ENST00000319420.3	-	2	817	c.762C>T	c.(760-762)caC>caT	p.H254H		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	254					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCACAGAGTCGTGCTGCACCG	0.572													A|||	555	0.110823	0.0825	0.0591	5008	,	,		20492	0.2351		0.0	False		,,,				2504	0.1718				p.H254H		Atlas-SNP	.											SHISA2,NS,carcinoma,0,3	SHISA2	43	3	0			c.C762T						PASS	.	A		268,4138	801.9+/-415.6	9,250,1944	138	111	120		762	-11.5	0	13	dbSNP_131	120	5,8595	819.0+/-406.8	0,5,4295	no	coding-synonymous	SHISA2	NM_001007538.1		9,255,6239	AA,AG,GG		0.0581,6.0826,2.099		254/296	26620777	273,12733	2203	4300	6503	SO:0001819	synonymous_variant	387914	exon2			AGAGTCGTGCTGC		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.762C>T	13.37:g.26620777G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_001007538	B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	CCDS31951.1																																																																																			G|0.962;A|0.038	0.038	strong		0.572	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		A	26620777	G	A	26620777	2	1	27	1	0	0	0	0	0	0	0	1	14280	1136	40	1		1	SHISA2	13	26620777	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	577595	26620777	88549101	395	22083			2	96		3	3	202	G		6.561734e-06
SHISA2	387914	hgsc.bcm.edu	37	chr13	26620924	26620924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcccttccggcaagcaacaGttggtctgtgaccttgttgg	12	11	1	1	rs77010561	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:26620924G>A	ENST00000319420.3	-	2	670	c.615C>T	c.(613-615)aaC>aaT	p.N205N		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	205					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCAAGCAACAGTTGGTCTGTG	0.607													G|||	553	0.110423	0.0817	0.0605	5008	,	,		20279	0.2351		0.0	False		,,,				2504	0.1697				p.N205N		Atlas-SNP	.											.	SHISA2	43	.	0			c.C615T						PASS	.	G		266,4140	151.4+/-185.3	9,248,1946	128	123	125		615	4.4	1	13	dbSNP_131	125	5,8595	5.0+/-18.6	0,5,4295	no	coding-synonymous	SHISA2	NM_001007538.1		9,253,6241	AA,AG,GG		0.0581,6.0372,2.0837		205/296	26620924	271,12735	2203	4300	6503	SO:0001819	synonymous_variant	387914	exon2			GCAACAGTTGGTC		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.615C>T	13.37:g.26620924G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	94	5	0.0531915	NM_001007538	B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	CCDS31951.1																																																																																			G|0.962;A|0.038	0.038	strong		0.607	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		A	26620924	G	A	26620924	2	1	27	1	0	0	0	0	0	0	0	1	14280	1020	36	2		2	SHISA2	13	26620924	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	147	26620924	88548954	396	22084			2	96		3	3	202	G		6.561734e-06
SHISA2	387914	hgsc.bcm.edu	37	chr13	26620978	26620978	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctgagttggcgctggagctGgaactggcagctgtgctgga	17	9	0	1	rs74965018	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:26620978G>T	ENST00000319420.3	-	2	616	c.561C>A	c.(559-561)tcC>tcA	p.S187S		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	187					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CGCTGGAGCTGGAACTGGCAG	0.632													G|||	648	0.129393	0.1498	0.0663	5008	,	,		18602	0.2351		0.0	False		,,,				2504	0.1708				p.S187S		Atlas-SNP	.											.	SHISA2	43	.	0			c.C561A						PASS	.	G		511,3895	230.1+/-244.4	37,437,1729	63	70	68		561	5.1	1	13	dbSNP_131	68	22,8578	16.0+/-53.3	0,22,4278	no	coding-synonymous	SHISA2	NM_001007538.1		37,459,6007	TT,TG,GG		0.2558,11.5978,4.0981		187/296	26620978	533,12473	2203	4300	6503	SO:0001819	synonymous_variant	387914	exon2			GGAGCTGGAACTG		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.561C>A	13.37:g.26620978G>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_001007538	B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	CCDS31951.1																																																																																			G|0.945;T|0.055	0.055	strong		0.632	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		T	26620978	G	T	26620978	2	4	27	1	0	0	0	0	0	0	0	1	14280	1335	47	4		4	SHISA2	13	26620978	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	54	26620978	88548900	397	22085			2	96		3	3	202	G		6.561734e-06
BRCA2	675	hgsc.bcm.edu	37	chr13	32906729	32906729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cattagattcaaatgtagcaAatcagaagccctttgagagt	8	7	2	3	rs144848	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:32906729A>C	ENST00000380152.3	+	10	1347	c.1114A>C	c.(1114-1116)Aat>Cat	p.N372H	BRCA2_ENST00000544455.1_Missense_Mutation_p.N372H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	372			H -> N (common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females; dbSNP:rs144848). {ECO:0000269|PubMed:10323242, ECO:0000269|PubMed:10978364, ECO:0000269|PubMed:11062481, ECO:0000269|PubMed:12552570, ECO:0000269|PubMed:15057823, ECO:0000269|PubMed:15172753, ECO:0000269|PubMed:15365993, ECO:0000269|PubMed:8665505, ECO:0000269|PubMed:8673091, ECO:0000269|Ref.3}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N372H(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATGTAGCAAATCAGAAGCC	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A|||	1249	0.249401	0.084	0.2997	5008	,	,		17972	0.2847		0.2952	False		,,,				2504	0.3538				p.N372H	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	BRCA2_ENST00000544455,NS,carcinoma,0,1	BRCA2	812	1	1	Substitution - Missense(1)	stomach(1)	c.A1114C	GRCh37	CM002750	BRCA2	M	rs144848	PASS	.	A	HIS/ASN	558,3770		42,474,1648	167	186	180	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1114	0.4	0	13	dbSNP_83	180	2449,6117		345,1759,2179	yes	missense	BRCA2	NM_000059.3	68	387,2233,3827	CC,CA,AA		28.5898,12.8928,23.3209	benign	372/3419	32906729	3007,9887	2164	4283	6447	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	GTAGCAAATCAGA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1114A>C	13.37:g.32906729A>C	ENSP00000369497:p.Asn372His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	525	0.2403846153846154	48	0.0975609756097561	113	0.31215469613259667	146	0.25524475524475526	218	0.287598944591029	A	6.228	0.410176	0.11812	0.128928	0.285898	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00717	5.79;5.79	5.6	0.396	0.16309	.	1.242150	0.05390	N	0.538920	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.41448	-0.9508	6	0.46703	T	0.11	.	5.256	0.15548	0.4454:0.162:0.3926:0.0	rs144848;rs703222;rs766172;rs17593227;rs52835869;rs60042381;rs144848	.	.	.	H	372;372;370	ENSP00000369497:N372H;ENSP00000439902:N372H	ENSP00000369497:N372H	N	+	1	0	BRCA2	31804729	0.001000	0.12720	0.000000	0.03702	0.316000	0.28119	0.757000	0.26433	-0.147000	0.11254	-0.250000	0.11733	AAT	T|0.005;G|0.003	.	strong		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32906729	A	C	32906729	3	2	27	1	0	0	0	0	1	0	0	0	1499	14	1	5	1148	5	BRCA2	13	32906729	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	6285751	32906729	82263149	398	22086										
STARD13	90627	hgsc.bcm.edu	37	chr13	33703656	33703656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaattctcttgggagtgaaaTtcatgcatacggctttggtc	10	7	2	1	rs495680	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:33703656T>C	ENST00000336934.5	-	5	1274	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	STARD13_ENST00000399365.3_Silent_p.E268E|STARD13_ENST00000255486.4_Silent_p.E378E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	386					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGTGAAATTCATGCATAC	0.537													C|||	2582	0.515575	0.3275	0.621	5008	,	,		18928	0.5407		0.6103	False		,,,				2504	0.5716				p.E386E		Atlas-SNP	.											.	STARD13	100	.	0			c.A1158G						PASS	.	C	,,	1688,2718	651.8+/-399.3	303,1082,818	71	72	72		804,1158,1134	0.6	0.1	13	dbSNP_83	72	5395,3205	481.4+/-370.6	1717,1961,622	yes	coding-synonymous,coding-synonymous,coding-synonymous	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,,	2020,3043,1440	CC,CT,TT		37.2674,38.3114,45.5405	,,	268/996,386/1114,378/1106	33703656	7083,5923	2203	4300	6503	SO:0001819	synonymous_variant	90627	exon5			GTGAAATTCATGC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1158A>G	13.37:g.33703656T>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	CCDS9348.1																																																																																			T|0.463;C|0.537	0.537	strong		0.537	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		C	33703656	T	C	33703656	2	2	27	1	0	0	0	0	0	0	0	1	15255	1490	52	2		2	STARD13	13	33703656	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	796927	33703656	81466222	399	22087										
C13orf23	80209	hgsc.bcm.edu	37	chr13	39603498	39603498	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgaccacttctgttggctgGacagccaccattttctgttg	9	11	2	1	rs61737582	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:39603498G>A	ENST00000352251.3	-	4	1028	c.195C>T	c.(193-195)gtC>gtT	p.V65V	PROSER1_ENST00000350125.3_Silent_p.V43V	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	65																	CTGTTGGCTGGACAGCCACCA	0.318													G|||	457	0.091254	0.0855	0.1095	5008	,	,		15384	0.0903		0.0586	False		,,,				2504	0.1207				p.V65V		Atlas-SNP	.											C13orf23,NS,carcinoma,-2,1	.	.	1	0			c.C195T						scavenged	.	G	,	214,3394		4,206,1594	72	71	71		195,129	0	1	13	dbSNP_129	71	525,7617		16,493,3562	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	20,699,5156	AA,AG,GG		6.448,5.9313,6.2894	,	65/945,43/923	39603498	739,11011	1804	4071	5875	SO:0001819	synonymous_variant	80209	exon4			TGGCTGGACAGCC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.195C>T	13.37:g.39603498G>A		Somatic	307	0	0		WXS	Illumina HiSeq	Phase_I	275	9	0.0327273	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																			G|0.921;A|0.079	0.079	strong		0.318	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39603498	G	A	39603498	2	1	27	1	0	0	0	0	0	0	0	1	1721	1161	41	2		2	C13orf23	13	39603498	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	5899842	39603498	75566380	400	22088										
IPO5	3843	hgsc.bcm.edu	37	chr13	98670828	98670828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtccagcctcatttaaataCgcagaatatttcttaagacc	5	10	2	2	rs140767528	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:98670828C>T	ENST00000490680.1	+	23	2771	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	IPO5_ENST00000539640.1_Silent_p.Y777Y|IPO5_ENST00000261574.5_Silent_p.Y920Y			O00410	IPO5_HUMAN	importin 5	902					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)	p.Y920Y(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CATTTAAATACGCAGAATATT	0.443													T|||	9	0.00179712	0.0	0.0	5008	,	,		20116	0.0089		0.0	False		,,,				2504	0.0				p.Y920Y		Atlas-SNP	.											IPO5,colon,carcinoma,0,1	IPO5	90	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760T						scavenged	.						162	145	151					13																	98670828		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon26			TAAATACGCAGAA	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.2706C>T	13.37:g.98670828C>T		Somatic	213	1	0.00469484		WXS	Illumina HiSeq	Phase_I	192	4	0.0208333	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	T	9.160	1.018361	0.19355	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.92	-3.57	0.04612	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63681	-0.6582	4	.	.	.	-8.5326	16.364	0.83307	0.0:0.5025:0.0:0.4975	.	.	.	.	M	904	.	.	T	+	2	0	IPO5	97468829	0.718000	0.27976	0.975000	0.42487	0.995000	0.86356	-0.182000	0.09726	-0.649000	0.05430	-0.269000	0.10298	ACG	C|0.997;T|0.003	0.003	strong		0.443	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98670828	C	T	98670828	2	4	27	1	0	0	0	0	0	0	0	1	7796	547	19	1		1	IPO5	13	98670828	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	59067330	98670828	16499050	401	22089										
C13orf28	122258	hgsc.bcm.edu	37	chr13	113053470	113053470	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attctctcctggcattgaggTcaaaatttccaatgatggta	8	8	2	2	rs10816	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr13:113053470T>A	ENST00000283550.3	+	4	399	c.332T>A	c.(331-333)gTc>gAc	p.V111D	SPACA7_ENST00000375699.3_Missense_Mutation_p.V80D	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	111			V -> D (in dbSNP:rs10816). {ECO:0000269|PubMed:15489334}.			acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GGCATTGAGGTCAAAATTTCC	0.423													A|||	3340	0.666933	0.7905	0.6081	5008	,	,		18900	0.624		0.5716	False		,,,				2504	0.684				p.V111D		Atlas-SNP	.											SPACA7,NS,adenoma,0,1	SPACA7	36	1	0			c.T332A						scavenged	.	A	ASP/VAL	3445,961	360.9+/-315.4	1357,731,115	70	71	71		332	0.4	0	13	dbSNP_52	71	5185,3415	503.2+/-375.9	1577,2031,692	yes	missense	SPACA7	NM_145248.4	152	2934,2762,807	AA,AT,TT		39.7093,21.8112,33.646	benign	111/196	113053470	8630,4376	2203	4300	6503	SO:0001583	missense	122258	exon4			TTGAGGTCAAAAT	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 28"	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.332T>A	13.37:g.113053470T>A	ENSP00000283550:p.Val111Asp	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	152	5	0.0328947	NM_145248	Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	CCDS9524.1	1381	0.6323260073260073	382	0.7764227642276422	229	0.6325966850828729	344	0.6013986013986014	426	0.5620052770448549	A	0.743	-0.775762	0.02951	0.781888	0.602907	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.03	0.446	0.16602	.	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	8	0.09843	T	0.71	-4.0574	0.5289	0.00625	0.4371:0.2203:0.129:0.2136	rs10816;rs1132162;rs3192694;rs11554437;rs17294556;rs17845503;rs17858390;rs60368660;rs10816	111	Q96KW9	SPAC7_HUMAN	D	111;99;97;80	ENSP00000283550:V111D;ENSP00000416096:V99D;ENSP00000406733:V97D;ENSP00000364851:V80D	ENSP00000283550:V111D	V	+	2	0	SPACA7	112101471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.204000	0.09425	-0.169000	0.10834	-0.265000	0.10407	GTC	T|0.343;A|0.657	0.657	strong		0.423	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		A	113053470	T	A	113053470	3	1	27	1	0	0	0	0	1	0	0	0	1724	1667	58	5	346	5	C13orf28	13	113053470	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	14382642	113053470	2116408	402	22090										
RBM23	55147	hgsc.bcm.edu	37	chr14	23371055	23371055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtaaagaggctggagagctgGaaacactgggaggcaaggtt	17	5	0	2	rs1127066	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:23371055G>C	ENST00000359890.3	-	13	1479	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	RBM23_ENST00000346528.5_Missense_Mutation_p.F394L|RBM23_ENST00000542016.2_Missense_Mutation_p.F258L|RBM23_ENST00000399922.2_Missense_Mutation_p.F412L|RBM23_ENST00000555209.1_Missense_Mutation_p.F178L	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	428			F -> L (in dbSNP:rs1127066).		mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TGGAGAGCTGGAAACACTGGG	0.527													G|||	1076	0.214856	0.053	0.2983	5008	,	,		19620	0.2649		0.2853	False		,,,				2504	0.2505				p.F428L		Atlas-SNP	.											.	RBM23	44	.	0			c.C1284G						PASS	.	G	LEU/PHE,LEU/PHE,LEU/PHE	381,3653		20,341,1656	166	176	173		1284,1182,1236	2.3	1	14	dbSNP_86	173	2510,5860		387,1736,2062	yes	missense,missense,missense	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	22,22,22	407,2077,3718	CC,CG,GG		29.9881,9.4447,23.307	possibly-damaging,possibly-damaging,possibly-damaging	428/440,394/406,412/424	23371055	2891,9513	2017	4185	6202	SO:0001583	missense	55147	exon13			GAGCTGGAAACAC	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1284C>G	14.37:g.23371055G>C	ENSP00000352956:p.Phe428Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	130	8	0.0615385	NM_001077351	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	509|509	0.23305860805860806|0.23305860805860806	37|37	0.07520325203252033|0.07520325203252033	107|107	0.2955801104972376|0.2955801104972376	154|154	0.2692307692307692|0.2692307692307692	211|211	0.2783641160949868|0.2783641160949868	G|G	12.07|12.07	1.826883|1.826883	0.32329|0.32329	0.094447|0.094447	0.299881|0.299881	ENSG00000100461|ENSG00000100461	ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016;ENST00000557245|ENST00000553884	T;T;T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84;0.84;0.84|.	5.34|5.34	2.35|2.35	0.29111|0.29111	.|.	0.314942|.	0.26072|.	N|.	0.026512|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35854|0.35854	1.095|1.095	0.23298|0.23298	P|P	0.9979592|0.9979592	B;B;B|.	0.23735|.	0.002;0.002;0.09|.	B;B;B|.	0.23574|.	0.019;0.019;0.047|.	T|T	0.26360|0.26360	-1.0105|-1.0105	9|4	0.15066|.	T|.	0.55|.	-0.3141|-0.3141	10.3266|10.3266	0.43796|0.43796	0.0:0.1306:0.599:0.2704|0.0:0.1306:0.599:0.2704	rs1127066;rs1242630;rs1742324;rs3182572;rs11557897;rs17124077;rs52811176;rs59971662;rs1127066|rs1127066;rs1242630;rs1742324;rs3182572;rs11557897;rs17124077;rs52811176;rs59971662;rs1127066	394;412;428|.	Q86U06-4;Q86U06-2;Q86U06|.	.;.;RBM23_HUMAN|.	L|A	178;428;405;412;394;258;71|203	ENSP00000452602:F178L;ENSP00000352956:F428L;ENSP00000382806:F412L;ENSP00000339220:F394L;ENSP00000438504:F258L;ENSP00000451838:F71L|.	ENSP00000345496:F405L|.	F|P	-|-	3|1	2|0	RBM23|RBM23	22440895|22440895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.348000|0.348000	0.20031|0.20031	0.190000|0.190000	0.20209|0.20209	0.561000|0.561000	0.74099|0.74099	TTC|CCA	G|0.760;C|0.240	0.240	strong		0.527	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			C	23371055	G	C	23371055	3	2	27	1	0	0	0	0	1	0	0	0	13123	1165	41	4	43	4	RBM23	14	23371055	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		23371055	83978485	403	22091										
FSCB	84075	hgsc.bcm.edu	37	chr14	44975052	44975052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagaccgaatttcaccaagaAgctctactgaaggagacttt	9	9	2	4	rs3825630	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:44975052A>G	ENST00000340446.4	-	1	1430	c.1139T>C	c.(1138-1140)cTt>cCt	p.L380P	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	380	Pro-rich.		L -> P (in dbSNP:rs3825630). {ECO:0000269|PubMed:15489334}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.L380P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCACCAAGAAGCTCTACTGA	0.522													A|||	1358	0.271166	0.2859	0.3055	5008	,	,		18322	0.3968		0.1193	False		,,,				2504	0.2536				p.L380P		Atlas-SNP	.											FSCB,NS,carcinoma,0,1	FSCB	173	1	1	Substitution - Missense(1)	stomach(1)	c.T1139C						PASS	.	A	PRO/LEU	1168,3238	363.6+/-316.6	160,848,1195	88	101	97		1139	-0.2	0	14	dbSNP_107	97	938,7662	196.9+/-241.7	50,838,3412	yes	missense	FSCB	NM_032135.3	98	210,1686,4607	GG,GA,AA		10.907,26.5093,16.1925	probably-damaging	380/826	44975052	2106,10900	2203	4300	6503	SO:0001583	missense	84075	exon1			CCAAGAAGCTCTA	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1139T>C	14.37:g.44975052A>G	ENSP00000344579:p.Leu380Pro	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	133	7	0.0526316	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	542	0.24816849816849818	138	0.2804878048780488	97	0.26795580110497236	223	0.38986013986013984	84	0.11081794195250659	a	4.879	0.163307	0.09287	0.265093	0.10907	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17528	2.27	3.87	-0.16	0.13375	.	.	.	.	.	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.11235	0.004	B	0.08055	0.003	T	0.48502	-0.9030	8	0.30078	T	0.28	.	6.2119	0.20633	0.5846:0.0:0.4154:0.0	rs3825630;rs17855636;rs58475266;rs3825630	380	Q5H9T9	FSCB_HUMAN	P	380	ENSP00000344579:L380P	ENSP00000344579:L380P	L	-	2	0	FSCB	44044802	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.903000	0.04084	-0.139000	0.11414	-0.479000	0.04858	CTT	A|0.796;G|0.204	0.204	strong		0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44975052	A	G	44975052	3	3	27	1	0	0	0	0	1	0	0	0	6066	72	3	3	1342	3	FSCB	14	44975052	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	21603997	44975052	62374488	404	22092										
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		Atlas-SNP	.											.	DNAAF2	47	.	0			c.G1185C						PASS	.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_018139	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.432;G|0.568	0.568	strong		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	27	1	0	0	0	0	0	0	0	1	1736	639	23	4		4	C14orf104	14	50100683	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	5125631	50100683	57248857	405	22093										
FRMD6	122786	hgsc.bcm.edu	37	chr14	52156605	52156605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcatgcaagaccgccgcagTgtgtgcattttccttcccaa	9	13	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:52156605T>C	ENST00000344768.5	+	2	247	c.51T>C	c.(49-51)agT>agC	p.S17S	FRMD6_ENST00000356218.4_Silent_p.S17S|FRMD6_ENST00000395718.2_Silent_p.S17S|RNA5SP385_ENST00000515947.1_RNA			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	17	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACCGCCGCAGTGTGTGCATTT	0.433																																					p.S17S		Atlas-SNP	.											FRMD6,NS,carcinoma,+1,2	FRMD6	100	2	0			c.T51C						scavenged	.						107	89	95					14																	52156605		2203	4300	6503	SO:0001819	synonymous_variant	122786	exon2			CCGCAGTGTGTGC	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.51T>C	14.37:g.52156605T>C		Somatic	246	3	0.0121951		WXS	Illumina HiSeq	Phase_I	246	7	0.0284553	NM_001267046	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																			.	.	none		0.433	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		C	52156605	T	C	52156605	2	2	27	1	0	0	0	0	0	0	0	1	6054	1693	59	2		2	FRMD6	14	52156605	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	2055922	52156605	55192935	406	22094										
DAAM1	23002	hgsc.bcm.edu	37	chr14	59797397	59797397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcacagcacagctccatgaGctcagcagggtgaggtcttc	11	13	3	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:59797397G>A	ENST00000395125.1	+	12	1574	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	DAAM1_ENST00000360909.3_Silent_p.E517E|DAAM1_ENST00000351081.1_Silent_p.E517E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	517					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGCTCCATGAGCTCAGCAGGG	0.527																																					p.E517E		Atlas-SNP	.											.	DAAM1	95	.	0			c.G1551A						PASS	.						56	57	57					14																	59797397		2203	4300	6503	SO:0001819	synonymous_variant	23002	exon13			CCATGAGCTCAGC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1551G>A	14.37:g.59797397G>A		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	166	53	0.319277	NM_001270520	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																			.	.	none		0.527	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		A	59797397	G	A	59797397	2	1	27	1	0	0	0	0	0	0	0	1	4215	962	34	2		2	DAAM1	14	59797397	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	7640792	59797397	47552143	407	22095										
C14orf45	80127	hgsc.bcm.edu	37	chr14	74514674	74514674	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaatgtttttaaagagaatgAttatcttcagaaagctctgg	8	4	3	3	rs3784038	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:74514674A>T	ENST00000394009.3	+	7	812	c.689A>T	c.(688-690)gAt>gTt	p.D230V	CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	230			D -> V (in dbSNP:rs3784038). {ECO:0000269|PubMed:17974005}.		motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AAAGAGAATGATTATCTTCAG	0.348													T|||	3164	0.631789	0.5454	0.5274	5008	,	,		17876	0.8829		0.4751	False		,,,				2504	0.7249				p.D230V		Atlas-SNP	.											.	.	.	.	0			c.A689T						PASS	.	T	VAL/ASP	1750,1386		483,784,301	80	71	74		689	5.8	1	14	dbSNP_107	74	3432,3732		818,1796,968	yes	missense	C14orf45	NM_025057.2	152	1301,2580,1269	TT,TA,AA		47.9062,44.1964,49.6893	benign	230/530	74514674	5182,5118	1568	3582	5150	SO:0001583	missense	80127	exon7			AGAATGATTATCT	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.689A>T	14.37:g.74514674A>T	ENSP00000377577:p.Asp230Val	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	236	14	0.059322	NM_025057	Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	CCDS32119.2	1311	0.6002747252747253	262	0.532520325203252	181	0.5	503	0.8793706293706294	365	0.4815303430079156	T	15.43	2.830233	0.50845	0.558036	0.479062	ENSG00000119636	ENST00000464394;ENST00000394009	T;T	0.32023	1.47;1.47	5.78	5.78	0.91487	.	0.403487	0.24776	N	0.035682	T	0.00012	0.0000	N	0.00069	-2.28	0.09310	P	0.9999999999999967	B	0.02656	0.0	B	0.01281	0.0	T	0.35968	-0.9767	9	0.26408	T	0.33	-1.8317	12.1639	0.54119	0.1283:0.0:0.0:0.8717	rs3784038;rs52825587;rs57060702;rs3784038	230	Q8ND07	CN045_HUMAN	V	90;230	ENSP00000451659:D90V;ENSP00000377577:D230V	ENSP00000377577:D230V	D	+	2	0	C14orf45	73584427	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	2.691000	0.47010	1.018000	0.39521	-0.265000	0.10407	GAT	A|0.410;T|0.590	0.590	strong		0.348	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		T	74514674	A	T	74514674	3	4	27	1	0	0	0	0	1	0	0	0	1775	333	12	5	715	5	C14orf45	14	74514674	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	14717277	74514674	32834866	408	22096										
TMEM90A	646658	hgsc.bcm.edu	37	chr14	74876355	74876355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agcttttcctggcaggaccaGctgggtggggtctccgggta	16	10	1	0	rs61734850	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:74876355G>C	ENST00000554823.1	-	1	154	c.93C>G	c.(91-93)agC>agG	p.S31R	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.S31R			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	31					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GGCAGGACCAGCTGGGTGGGG	0.657													G|||	521	0.104034	0.0983	0.1945	5008	,	,		16521	0.0813		0.1203	False		,,,				2504	0.0542				p.S31R		Atlas-SNP	.											.	SYNDIG1L	24	.	0			c.C93G						PASS	.	G	ARG/SER	397,3481		23,351,1565	35	41	39		93	3.5	1	14	dbSNP_129	39	919,7355		42,835,3260	yes	missense	SYNDIG1L	NM_001105579.1	110	65,1186,4825	CC,CG,GG		11.1071,10.2372,10.8295	benign	31/239	74876355	1316,10836	1939	4137	6076	SO:0001583	missense	646658	exon2			GGACCAGCTGGGT		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.93C>G	14.37:g.74876355G>C	ENSP00000450439:p.Ser31Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	98	4	0.0408163	NM_001105579		Missense_Mutation	SNP	ENST00000554823.1	37	CCDS41970.1	276	0.12637362637362637	57	0.11585365853658537	61	0.1685082872928177	59	0.10314685314685315	99	0.13060686015831136	G	9.554	1.116787	0.20795	0.102372	0.111071	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	D;D	0.95377	-3.69;-3.69	4.44	3.46	0.39613	.	0.354560	0.30742	N	0.008976	T	0.02119	0.0066	N	0.19112	0.55	0.34750	P	0.268374	B	0.29085	0.232	B	0.32533	0.147	T	0.60439	-0.7263	9	0.72032	D	0.01	0.8397	9.8782	0.41216	0.165:0.0:0.835:0.0	rs61734850	31	A6NDD5	SYN1L_HUMAN	R	31	ENSP00000331474:S31R;ENSP00000450439:S31R	ENSP00000331474:S31R	S	-	3	2	SYNDIG1L	73946108	0.978000	0.34361	1.000000	0.80357	0.240000	0.25518	1.104000	0.31074	2.298000	0.77334	0.467000	0.42956	AGC	G|0.868;C|0.132	0.132	strong		0.657	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		C	74876355	G	C	74876355	3	2	27	1	0	0	0	0	1	0	0	0	16215	962	34	4	635	4	TMEM90A	14	74876355	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	361681	74876355	32473185	409	22097										
NDUFB1	4707	hgsc.bcm.edu	37	chr14	92588002	92588002	+	5'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacctgcagcctcagcgccTacagcgaccccgagaccaag	9	19	1	1	rs3818263	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:92588002T>G	ENST00000553514.1	-	0	66				NDUFB1_ENST00000556555.1_5'UTR|NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.V40V|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000605997.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CCTCAGCGCCTACAGCGACCC	0.711													G|||	2703	0.539736	0.5514	0.379	5008	,	,		10980	0.8552		0.334	False		,,,				2504	0.5245				p.V40V		Atlas-SNP	.											NDUFB1,rectum,carcinoma,0,1	NDUFB1	5	1	0			c.A120C						scavenged	.	G		2232,2174		573,1086,544	33	39	37		120	-7	0	14	dbSNP_107	37	2915,5681		489,1937,1872	no	coding-synonymous	NDUFB1	NM_004545.3		1062,3023,2416	GG,GT,TT		33.9111,49.3418,39.5862		40/106	92588002	5147,7855	2203	4298	6501	SO:0001623	5_prime_UTR_variant	4707	exon1			AGCGCCTACAGCG	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"Mitochondrial respiratory chain complex / Complex I"	7695	protein-coding gene	gene with protein product	"complex I MNLL subunit"	603837	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-140A>C	14.37:g.92588002T>G		Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	170	6	0.0352941	NM_004545	A0AV68	Silent	SNP	ENST00000553514.1	37																																																																																				T|0.520;G|0.480	0.480	strong		0.711	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545		G	92588002	T	G	92588002	1	3	27	0	1	0	0	0	0	0	0	0	10278	1509	53	5		5	NDUFB1	14	92588002	5'UTR	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	17711647	92588002	14761538	410	22098										
SERPINA9	327657	hgsc.bcm.edu	37	chr14	94936107	94936107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggtatgcactgggggcattgGccggggacacacagtagatt	16	8	0	1	rs4905204	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:94936107G>A	ENST00000380365.3	-	2	149	c.71C>T	c.(70-72)gCc>gTc	p.A24V	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000337425.5_Missense_Mutation_p.A42V|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A42V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	24			A -> V (in dbSNP:rs4905204).		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGGGCATTGGCCGGGGACAC	0.527													G|||	364	0.0726837	0.0144	0.0331	5008	,	,		18408	0.1181		0.0755	False		,,,				2504	0.1299				p.A42V		Atlas-SNP	.											SERPINA9_ENST00000337425,NS,carcinoma,0,2	SERPINA9	105	2	0			c.C125T						scavenged	.	G	VAL/ALA,VAL/ALA	92,3928		1,90,1919	86	87	86		125,125	1	0	14	dbSNP_111	86	516,7828		19,478,3675	yes	missense,missense	SERPINA9	NM_001042518.1,NM_175739.3	64,64	20,568,5594	AA,AG,GG		6.1841,2.2886,4.9175	benign,benign	42/336,42/436	94936107	608,11756	2010	4172	6182	SO:0001583	missense	327657	exon2			GCATTGGCCGGGG	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.71C>T	14.37:g.94936107G>A	ENSP00000369723:p.Ala24Val	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	158	5	0.0316456	NM_175739	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37		140	0.0641025641025641	9	0.018292682926829267	15	0.04143646408839779	67	0.11713286713286714	49	0.06464379947229551	G	3.440	-0.114198	0.06881	0.022886	0.061841	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87887	-2.31;-2.31;-2.31	3.99	0.963	0.19649	Serpin domain (1);	2.726190	0.02096	N	0.053529	T	0.03434	0.0099	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41324	-0.9515	9	0.33940	T	0.23	.	5.9522	0.19253	0.2665:0.0:0.5997:0.1338	rs4905204;rs52797710;rs4905204	24;42;42	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	V	42;42;24	ENSP00000298845:A42V;ENSP00000337133:A42V;ENSP00000369723:A24V	ENSP00000298845:A42V	A	-	2	0	SERPINA9	94005860	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.285000	0.18883	-0.298000	0.08921	-1.786000	0.00637	GCC	G|0.934;A|0.066	0.066	strong		0.527	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		A	94936107	G	A	94936107	3	1	27	1	0	0	0	0	1	0	0	0	14095	1203	42	2	1198	2	SERPINA9	14	94936107	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2348105	94936107	12413433	411	22099										
ZNF839	55778	hgsc.bcm.edu	37	chr14	102792822	102792822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cccaaatataaagctaaagaTtataagttcataaaaacaga	4	6	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:102792822T>C	ENST00000558850.1	+	2	791	c.441T>C	c.(439-441)gaT>gaC	p.D147D	ZNF839_ENST00000262236.5_Silent_p.D147D|ZNF839_ENST00000559185.1_Silent_p.D147D|ZNF839_ENST00000442396.2_Silent_p.D263D	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	147							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGCTAAAGATTATAAGTTCA	0.388																																					p.D263D		Atlas-SNP	.											ZNF839,NS,carcinoma,+2,1	ZNF839	41	1	0			c.T789C						scavenged	.						41	41	41					14																	102792822		1846	4100	5946	SO:0001819	synonymous_variant	55778	exon2			TAAAGATTATAAG	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.441T>C	14.37:g.102792822T>C		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	84	2	0.0238095	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	CCDS58336.1																																																																																			.	.	none		0.388	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		C	102792822	T	C	102792822	2	2	27	1	0	0	0	0	0	0	0	1	18185	1490	52	2		2	ZNF839	14	102792822	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	7856715	102792822	4556718	412	22100										
TDRD9	122402	hgsc.bcm.edu	37	chr14	104452640	104452640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attcagatgtttgatgacttGgatatgaaggagagtgggta	14	2	1	5	rs10143389	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:104452640G>A	ENST00000409874.4	+	8	1146	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	TDRD9_ENST00000339063.5_Silent_p.L366L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	366					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L366L(1)|p.L81L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTGATGACTTGGATATGAAGG	0.348													G|||	1613	0.322085	0.2731	0.3516	5008	,	,		18906	0.3343		0.3588	False		,,,				2504	0.317				p.L366L		Atlas-SNP	.											TDRD9_ENST00000409874,NS,carcinoma,0,2	TDRD9	175	2	2	Substitution - coding silent(2)	stomach(2)	c.G1098A						scavenged	.	G		1326,3080	446.7+/-348.1	190,946,1067	113	104	107		1098	3.9	1	14	dbSNP_119	107	2984,5616	460.9+/-365.3	518,1948,1834	no	coding-synonymous	TDRD9	NM_153046.2		708,2894,2901	AA,AG,GG		34.6977,30.0953,33.1386		366/1383	104452640	4310,8696	2203	4300	6503	SO:0001819	synonymous_variant	122402	exon8			TGACTTGGATATG	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1098G>A	14.37:g.104452640G>A		Somatic	168	2	0.0119048		WXS	Illumina HiSeq	Phase_I	185	7	0.0378378	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	706	0.3232600732600733	131	0.266260162601626	118	0.3259668508287293	183	0.31993006993006995	274	0.36147757255936674	G	8.454	0.853663	0.17106	0.300953	0.346977	ENSG00000156414	ENST00000557332	.	.	.	5.71	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.38200	-0.9672	3	.	.	.	.	7.929	0.29891	0.25:0.0:0.75:0.0	rs10143389;rs58504835;rs10143389	.	.	.	R	93	.	.	G	+	1	0	TDRD9	103522393	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	1.987000	0.40687	0.772000	0.33382	0.650000	0.86243	GGA	G|0.674;A|0.326	0.326	strong		0.348	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		A	104452640	G	A	104452640	2	1	27	1	0	0	0	0	0	0	0	1	15733	1339	47	2		2	TDRD9	14	104452640	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1659818	104452640	2896900	413	22101										
PLD4	122618	hgsc.bcm.edu	37	chr14	105395204	105395204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcccaggagagcgtccacGtggcttcatactactggtcc	11	14	1	1	rs3803295	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:105395204G>A	ENST00000392593.4	+	4	571	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	PLD4_ENST00000540372.1_Missense_Mutation_p.V142M	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	135			V -> M (in dbSNP:rs3803295).		glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GAGCGTCCACGTGGCTTCATA	0.687													g|||	10	0.00199681	0.0	0.0	5008	,	,		18064	0.0089		0.001	False		,,,				2504	0.0				p.V135M		Atlas-SNP	.											.	PLD4	46	.	0			c.G403A						PASS	.						48	52	51					14																	105395204		2055	4215	6270	SO:0001583	missense	122618	exon4			GTCCACGTGGCTT		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.403G>A	14.37:g.105395204G>A	ENSP00000376372:p.Val135Met	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	133	6	0.0451128	NM_138790	Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	G	11.99	1.804171	0.31869	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.14516	2.5;2.5;2.5	4.45	2.58	0.30949	.	0.275018	0.29198	N	0.012858	T	0.05960	0.0155	L	0.55990	1.75	0.80722	D	1	B;B	0.33212	0.402;0.281	B;B	0.32533	0.147;0.07	T	0.07233	-1.0783	10	0.49607	T	0.09	7.0948	6.3692	0.21471	0.3264:0.0:0.6736:0.0	rs3803295;rs3803295	142;135	F5H2B5;Q96BZ4	.;PLD4_HUMAN	M	142;135;133	ENSP00000438677:V142M;ENSP00000376372:V135M;ENSP00000451278:V133M	ENSP00000376372:V135M	V	+	1	0	PLD4	104466249	0.290000	0.24343	0.256000	0.24389	0.446000	0.32137	0.534000	0.23098	0.413000	0.25759	0.645000	0.84053	GTG	G|0.994;A|0.006	0.006	strong		0.687	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		A	105395204	G	A	105395204	3	1	27	1	0	0	0	0	1	0	0	0	12048	1145	40	1	413	1	PLD4	14	105395204	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	942564	105395204	1954336	414	22102										
JAG2	3714	hgsc.bcm.edu	37	chr14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggggcttggctcacaaaggtCgacatccacctgcagggtgg	15	11	1	0	rs9972231	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr14:105615648C>T	ENST00000331782.3	-	13	2015	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	JAG2_ENST00000347004.2_Missense_Mutation_p.D500N|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	538	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.		D -> N (in dbSNP:rs9972231).		auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622													c|||	601	0.120008	0.0053	0.1268	5008	,	,		11943	0.1687		0.1312	False		,,,				2504	0.2086				p.D538N		Atlas-SNP	.											JAG2,scalp,carcinoma,0,3	JAG2	69	3	2	Substitution - Missense(2)	lung(1)|skin(1)	c.G1612A						scavenged	.		ASN/ASP,ASN/ASP	143,4261	98.9+/-137.6	2,139,2061	68	71	70		1612,1498	3.8	0	14	dbSNP_119	70	1119,7481	229.8+/-264.4	82,955,3263	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	23,23	84,1094,5324	TT,TC,CC		13.0116,3.247,9.7047	possibly-damaging,possibly-damaging	538/1239,500/1201	105615648	1262,11742	2202	4300	6502	SO:0001583	missense	3714	exon13			AAAGGTCGACATC	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1612G>A	14.37:g.105615648C>T	ENSP00000328169:p.Asp538Asn	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	97	3	0.0309278	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	253	0.11584249084249085	5	0.01016260162601626	44	0.12154696132596685	104	0.18181818181818182	100	0.13192612137203166	C	12.41	1.928193	0.34002	0.03247	0.130116	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.83673	-1.75;-1.75	3.8	3.8	0.43715	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.056989	0.64402	D	0.000002	T	0.00412	0.0013	L	0.49455	1.56	0.21020	P	0.999805715	B;B	0.34147	0.438;0.202	B;B	0.29267	0.1;0.025	T	0.30238	-0.9985	9	0.20519	T	0.43	.	13.511	0.61513	0.0:1.0:0.0:0.0	rs9972231;rs57317492;rs9972231	500;538	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	N	538;500	ENSP00000328169:D538N;ENSP00000328566:D500N	ENSP00000328169:D538N	D	-	1	0	JAG2	104686693	0.269000	0.24143	0.038000	0.18304	0.038000	0.13279	0.959000	0.29240	1.830000	0.53286	0.556000	0.70494	GAC	C|0.899;T|0.101	0.101	strong		0.622	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105615648	C	T	105615648	3	4	27	1	0	0	0	0	1	0	0	0	7935	884	31	1	2160	1	JAG2	14	105615648	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	220444	105615648	1733892	415	22103										
OR4M2	390538	hgsc.bcm.edu	37	chr15	22368855	22368855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggagaggaagataatttctTttgatggatgcattgcacag	12	4	1	3	rs75967710	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:22368855T>C	ENST00000332663.2	+	1	378	c.280T>C	c.(280-282)Ttt>Ctt	p.F94L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GATAATTTCTTTTGATGGATG	0.443																																					p.F94L		Atlas-SNP	.											.	OR4M2	140	.	0			c.T280C						PASS	.		LEU/PHE	54,4352		0,54,2149	327	277	294		280	2.5	0.9	15	dbSNP_131	294	111,8489		0,111,4189	yes	missense	OR4M2	NM_001004719.2	22	0,165,6338	CC,CT,TT		1.2907,1.2256,1.2686	probably-damaging	94/314	22368855	165,12841	2203	4300	6503	SO:0001583	missense	390538	exon1			ATTTCTTTTGATG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.280T>C	15.37:g.22368855T>C	ENSP00000329467:p.Phe94Leu	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	214	13	0.0607477	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	151	0.06913919413919414	16	0.032520325203252036	10	0.027624309392265192	105	0.18356643356643357	20	0.026385224274406333	.	10.46	1.357052	0.24598	0.012256	0.012907	ENSG00000182974	ENST00000332663	T	0.00327	8.09	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000188	T	0.00012	0.0000	L	0.55017	1.72	0.09310	N	1	P	0.42409	0.779	B	0.36666	0.23	T	0.47262	-0.9131	10	0.41790	T	0.15	-15.4455	8.5824	0.33637	0.0:0.0:0.0:1.0	.	94	Q8NGB6	OR4M2_HUMAN	L	94	ENSP00000329467:F94L	ENSP00000329467:F94L	F	+	1	0	OR4M2	19870219	0.196000	0.23350	0.925000	0.36789	0.849000	0.48306	3.192000	0.50989	1.167000	0.42706	0.368000	0.22195	TTT	T|0.967;C|0.033	0.033	strong		0.443	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			C	22368855	T	C	22368855	3	2	27	1	0	0	0	0	1	0	0	0	11076	1841	64	2	282	2	OR4M2	15	22368855	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10		22368855	80162537	416	22104										
OR4M2	390538	hgsc.bcm.edu	37	chr15	22369426	22369426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tactttaatattccctttacGtaatcccattatttacacat	1	10	0	0	rs4087943	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:22369426G>A	ENST00000332663.2	+	1	949	c.851G>A	c.(850-852)cGt>cAt	p.R284H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	284			R -> H (in dbSNP:rs4087943).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCCTTTACGTAATCCCATT	0.363																																					p.R284H		Atlas-SNP	.											OR4M2,colon,carcinoma,0,1	OR4M2	140	1	0			c.G851A						scavenged	.		HIS/ARG	1899,2507		127,1645,431	159	123	135		851	2.3	1	15	dbSNP_108	135	4802,3798		852,3098,350	no	missense	OR4M2	NM_001004719.2	29	979,4743,781	AA,AG,GG		44.1628,43.1003,48.4776	benign	284/314	22369426	6701,6305	2203	4300	6503	SO:0001583	missense	390538	exon1			CTTTACGTAATCC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.851G>A	15.37:g.22369426G>A	ENSP00000329467:p.Arg284His	Somatic	339	2	0.0058997		WXS	Illumina HiSeq	Phase_I	330	7	0.0212121	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	1107	0.5068681318681318	216	0.43902439024390244	227	0.6270718232044199	253	0.4423076923076923	411	0.5422163588390502	.	12.82	2.051834	0.36181	0.431003	0.558372	ENSG00000182974	ENST00000332663	T	0.37058	1.22	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000472	T	0.00012	0.0000	N	0.08118	0	0.49915	P	1.6799999999994597E-4	B	0.22414	0.069	B	0.09377	0.004	T	0.37033	-0.9723	9	0.87932	D	0	-9.8508	6.6756	0.23092	0.0:0.0:0.2432:0.7568	rs4087943	284	Q8NGB6	OR4M2_HUMAN	H	284	ENSP00000329467:R284H	ENSP00000329467:R284H	R	+	2	0	OR4M2	19870790	0.996000	0.38824	0.998000	0.56505	0.812000	0.45895	5.485000	0.66850	0.148000	0.19059	-0.598000	0.04106	CGT	G|0.493;A|0.507	0.507	strong		0.363	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			A	22369426	G	A	22369426	3	1	27	1	0	0	0	0	1	0	0	0	11076	1145	40	1	853	1	OR4M2	15	22369426	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	571	22369426	80161966	417	22105										
OR4N4	283694	hgsc.bcm.edu	37	chr15	22383066	22383066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgtttgtggtggagcttctAatggtcttcaacagtggcct	12	7	3	0	rs559754|rs67576397	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:22383066A>G	ENST00000328795.4	+	1	685	c.594A>G	c.(592-594)ctA>ctG	p.L198L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	198						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAGCTTCTAATGGTCTTCA	0.522													g|||	2105	0.420327	0.4297	0.3862	5008	,	,		25329	0.4127		0.4642	False		,,,				2504	0.3947				p.L198L		Atlas-SNP	.											OR4N4,colon,carcinoma,+2,1	OR4N4	108	1	0			c.A594G						scavenged	.						121	97	105					15																	22383066		2190	4259	6449	SO:0001819	synonymous_variant	283694	exon1			GCTTCTAATGGTC	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.594A>G	15.37:g.22383066A>G		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	132	4	0.030303	NM_001005241	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																			ATG|0.500;CTA|0.500	.	alt		0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22383066	A	G	22383066	2	3	27	1	0	0	0	0	0	0	0	1	11078	349	13	2		2	OR4N4	15	22383066	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	13640	22383066	80148326	418	22106										
FSIP1	161835	hgsc.bcm.edu	37	chr15	39910404	39910404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagtatgcattcatccagaaGacactttaactgttcttcag	6	9	3	2	rs12908846	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:39910404G>A	ENST00000350221.3	-	11	1440	c.1231C>T	c.(1231-1233)Ctt>Ttt	p.L411F		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	411			L -> F (in dbSNP:rs12908846).							NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCATCCAGAAGACACTTTAAC	0.353													G|||	788	0.157348	0.0333	0.1196	5008	,	,		19671	0.2907		0.1471	False		,,,				2504	0.2249				p.L411F		Atlas-SNP	.											.	FSIP1	53	.	0			c.C1231T						PASS	.	G	PHE/LEU	230,4164		3,224,1970	51	54	53		1231	5.1	1	15	dbSNP_121	53	1107,7475		65,977,3249	yes	missense	FSIP1	NM_152597.4	22	68,1201,5219	AA,AG,GG		12.8991,5.2344,10.3036	probably-damaging	411/582	39910404	1337,11639	2197	4291	6488	SO:0001583	missense	161835	exon11			CCAGAAGACACTT	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1231C>T	15.37:g.39910404G>A	ENSP00000280236:p.Leu411Phe	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	157	7	0.044586	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	349	0.15979853479853479	16	0.032520325203252036	48	0.13259668508287292	178	0.3111888111888112	107	0.14116094986807387	G	20.4	3.987146	0.74589	0.052344	0.128991	ENSG00000150667	ENST00000350221	T	0.35789	1.29	5.06	5.06	0.68205	.	0.104654	0.38217	N	0.001773	T	0.00012	0.0000	L	0.29908	0.895	0.27465	P	0.9530472	D	0.89917	1.0	D	0.91635	0.999	T	0.18808	-1.0325	8	.	.	.	-7.7703	17.1261	0.86714	0.0:0.0:1.0:0.0	rs12908846;rs59692160;rs12908846	411	Q8NA03	FSIP1_HUMAN	F	411	ENSP00000280236:L411F	.	L	-	1	0	FSIP1	37697696	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.542000	0.67218	2.785000	0.95823	0.655000	0.94253	CTT	G|0.862;A|0.138	0.138	strong		0.353	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		A	39910404	G	A	39910404	3	1	27	1	0	0	0	0	1	0	0	0	6074	942	33	2	522	2	FSIP1	15	39910404	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17527338	39910404	62620988	419	22107										
EIF2AK4	440275	hgsc.bcm.edu	37	chr15	40259848	40259848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgcagaaggcaccgtcaagAttacggactatagcatttct	9	9	2	2	rs2291627	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:40259848A>C	ENST00000263791.5	+	9	1364	c.1321A>C	c.(1321-1323)Att>Ctt	p.I441L	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.I441L|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.I441L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	441	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> L (in dbSNP:rs2291627). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:17974005}.		cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACCGTCAAGATTACGGACTA	0.468													A|||	1239	0.247404	0.233	0.134	5008	,	,		23651	0.5387		0.0924	False		,,,				2504	0.2065				p.I441L		Atlas-SNP	.											.	EIF2AK4	107	.	0			c.A1321C						PASS	.	A	LEU/ILE	762,3232		68,626,1303	107	105	106		1321	4.5	1	15	dbSNP_100	106	739,7611		33,673,3469	yes	missense	EIF2AK4	NM_001013703.2	5	101,1299,4772	CC,CA,AA		8.8503,19.0786,12.1598	benign	441/1650	40259848	1501,10843	1997	4175	6172	SO:0001583	missense	440275	exon9			GTCAAGATTACGG	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1321A>C	15.37:g.40259848A>C	ENSP00000263791:p.Ile441Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	124	8	0.0645161	NM_001013703	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	531	0.24313186813186813	115	0.23373983739837398	45	0.12430939226519337	298	0.5209790209790209	73	0.09630606860158311	A	4.744	0.138332	0.09083	0.190786	0.088503	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.68903	-0.36;-0.36	5.58	4.46	0.54185	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.323593	0.34025	N	0.004327	T	0.00012	0.0000	N	0.02225	-0.63	0.35081	P	0.236591	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.002	T	0.43621	-0.9380	9	0.02654	T	1	-16.4002	4.9105	0.13820	0.5452:0.2912:0.1637:0.0	rs2291627;rs52819941;rs61355221;rs2291627	441;441	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	L	441	ENSP00000263791:I441L;ENSP00000372174:I441L	ENSP00000263791:I441L	I	+	1	0	EIF2AK4	38047140	1.000000	0.71417	0.972000	0.41901	0.798000	0.45092	1.331000	0.33793	1.052000	0.40392	0.533000	0.62120	ATT	C|0.219;N|0.000	0.219	strong		0.468	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40259848	A	C	40259848	3	2	27	1	0	0	0	0	1	0	0	0	4999	333	12	5	1355	5	EIF2AK4	15	40259848	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	349444	40259848	62271544	420	22108										
PLA2G4F	255189	hgsc.bcm.edu	37	chr15	42434254	42434254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcgcacttcaaggtctccacGttgttcaggacgttgtatcg	11	11	3	0	rs655427	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:42434254G>A	ENST00000382396.4	-	20	2564	c.2478C>T	c.(2476-2478)aaC>aaT	p.N826N	PLA2G4F_ENST00000397272.3_Silent_p.N828N			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	826	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTCCACGTTGTTCAGGA	0.602													A|||	2000	0.399361	0.3964	0.415	5008	,	,		16500	0.3452		0.5487	False		,,,				2504	0.2945				p.N826N		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.C2478T						PASS	.	A		1819,2587	638.6+/-397.0	370,1079,754	81	76	77		2478	-10.4	0	15	dbSNP_83	77	4536,4062	560.1+/-387.5	1203,2130,966	no	coding-synonymous	PLA2G4F	NM_213600.3		1573,3209,1720	AA,AG,GG		47.2435,41.2846,48.8696		826/850	42434254	6355,6649	2203	4299	6502	SO:0001819	synonymous_variant	255189	exon20			CTCCACGTTGTTC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2478C>T	15.37:g.42434254G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	95	6	0.0631579	NM_213600	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																			G|0.540;N|0.000	.	strong		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		A	42434254	G	A	42434254	2	1	27	1	0	0	0	0	0	0	0	1	12006	1136	40	1		1	PLA2G4F	15	42434254	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2174406	42434254	60097138	421	22109										
STRC	161497	hgsc.bcm.edu	37	chr15	43892847	43892847	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agttgttcctcagagcactgGagatgcagggtgccgaggaa	15	8	1	2	rs12438025	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:43892847G>C	ENST00000450892.2	-	26	4955	c.4878C>G	c.(4876-4878)ctC>ctG	p.L1626L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L853L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1626					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGAGCACTGGAGATGCAGGG	0.532													G|||	1475	0.294529	0.556	0.2032	5008	,	,		20056	0.2718		0.0994	False		,,,				2504	0.2301				p.L1626L		Atlas-SNP	.											STRC_ENST00000450892,colon,carcinoma,0,1	STRC	58	1	0			c.C4878G						scavenged	.	G		2041,2359	541.9+/-375.9	485,1071,644	55	64	61		4878	2.9	1	15	dbSNP_120	61	846,7748	189.1+/-236.0	50,746,3501	no	coding-synonymous	STRC	NM_153700.2		535,1817,4145	CC,CG,GG		9.8441,46.3864,22.2179		1626/1776	43892847	2887,10107	2200	4297	6497	SO:0001819	synonymous_variant	161497	exon26			GCACTGGAGATGC	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4878C>G	15.37:g.43892847G>C		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	199	4	0.0201005	NM_153700		Silent	SNP	ENST00000450892.2	37	CCDS10098.1																																																																																			G|0.784;C|0.216	0.216	strong		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		C	43892847	G	C	43892847	2	2	27	1	0	0	0	0	0	0	0	1	15327	1161	41	4		4	STRC	15	43892847	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1458593	43892847	58638545	422	22110										
B2M	567	hgsc.bcm.edu	37	chr15	45007689	45007690	+	Frame_Shift_Del	DEL	TA	TA	-													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtcaaatttcctgaattgcTatgtgtctgggtttcatcca							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:45007689_45007690delTA	ENST00000558401.1	+	2	206_207	c.136_137delTA	c.(136-138)tatfs	p.Y46fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.Y46fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.Y46fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	46	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CCTGAATTGCTATGTGTCTGGG	0.401																																					p.45_46del		Pindel,Atlas-Indel	.											B2M,NS,lymphoid_neoplasm,+2,1	B2M	99	1	0			c.135_136del						PASS	.																																			SO:0001589	frameshift_variant	567	exon2			.	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.136_137delTA	15.37:g.45007689_45007690delTA	ENSP00000452780:p.Tyr46fs	Somatic	94	.	.		WXS	Illumina HiSeq	Phase_I	76	35	0.461	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																			.	.	none		0.401	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45007690	TA	-	45007689	7	5	27	1	0	1	0	1	0	0	0	0	1244	1522	53	0	142	0	B2M	15	45007689	Frame_Shift_Del	DEL	TA	TCGA-GR-A4D9-01B-11D-A31X-10	1114842	45007689	57523703	423	22111										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48063076	48063076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccagagttggctgctcttccTactcctgagtctacacccgt	8	15	2	2	rs568215	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:48063076T>C	ENST00000316364.5	+	19	2755	c.2316T>C	c.(2314-2316)ccT>ccC	p.P772P	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.P772P|SEMA6D_ENST00000389433.2_Silent_p.P753P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.P716P|SEMA6D_ENST00000537942.1_Silent_p.P710P|SEMA6D_ENST00000389428.3_Silent_p.P697P|SEMA6D_ENST00000358066.4_Silent_p.P710P|SEMA6D_ENST00000558014.1_Silent_p.P710P|SEMA6D_ENST00000389432.2_Silent_p.P729P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	772					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGCTCTTCCTACTCCTGAGT	0.527													C|||	3985	0.795727	0.9811	0.6527	5008	,	,		17316	0.8442		0.6352	False		,,,				2504	0.7618				p.P772P		Atlas-SNP	.											.	SEMA6D	322	.	0			c.T2316C						PASS	.	C	,,,,,	4037,357	169.8+/-200.3	1859,319,19	59	61	60		2130,2130,2091,2148,2316,	-1.1	1	15	dbSNP_83	60	5223,3371	484.6+/-371.4	1598,2027,672	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,	3457,2346,691	CC,CT,TT		39.225,8.1247,28.7034	,,,,,	710/1012,710/1012,697/999,716/1018,772/1074,	48063076	9260,3728	2197	4297	6494	SO:0001819	synonymous_variant	80031	exon19			TCTTCCTACTCCT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2316T>C	15.37:g.48063076T>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	107	6	0.0560748	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			T|0.258;C|0.742	0.742	strong		0.527	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		C	48063076	T	C	48063076	2	2	27	1	0	0	0	0	0	0	0	1	14042	1509	53	3		3	SEMA6D	15	48063076	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3055387	48063076	54468316	424	22112										
SLC24A5	283652	hgsc.bcm.edu	37	chr15	48426484	48426484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtctcaggatgttgcaggcAcaactttcatggcagcgggc	13	10	2	0	rs1426654	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:48426484A>G	ENST00000341459.3	+	3	404	c.331A>G	c.(331-333)Aca>Gca	p.T111A	SLC24A5_ENST00000449382.2_Missense_Mutation_p.T51A	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	111			T -> A (associated with SHEP4; greatly reduced exchange activity; dbSNP:rs1426654). {ECO:0000269|PubMed:16357253, ECO:0000269|PubMed:17999355}.		ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGTTGCAGGCACAACTTTCAT	0.378													G|||	2816	0.5623	0.9259	0.4107	5008	,	,		20353	0.9881		0.003	False		,,,				2504	0.3149				p.T111A		Atlas-SNP	.											.	SLC24A5	64	.	0			c.A331G	GRCh37	CM054862	SLC24A5	M	rs1426654	PASS	.	G	ALA/THR	3388,1008	373.9+/-321.0	1323,742,133	156	163	161	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	331	5.6	1	15	dbSNP_88	161	42,8552	816.9+/-406.9	1,40,4256	yes	missense	SLC24A5	NM_205850.2	58	1324,782,4389	GG,GA,AA		0.4887,22.9299,26.4049	benign	111/501	48426484	3430,9560	2198	4297	6495	SO:0001583	missense	283652	exon3			GCAGGCACAACTT	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.331A>G	15.37:g.48426484A>G	ENSP00000341550:p.Thr111Ala	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	141	8	0.0567376	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	1141	0.5224358974358975	454	0.9227642276422764	120	0.3314917127071823	564	0.986013986013986	3	0.00395778364116095	G	9.239	1.037742	0.19669	0.770701	0.004887	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61510	0.1;0.1	5.55	5.55	0.83447	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00007	-3.17	0.44908	P	0.0020719999999999628	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44817	-0.9303	9	0.02654	T	1	.	14.8111	0.69996	0.0685:0.0:0.9315:0.0	rs1426654;rs52802038;rs58147390;rs1426654	51;111	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	A	111;51	ENSP00000341550:T111A;ENSP00000389966:T51A	ENSP00000341550:T111A	T	+	1	0	SLC24A5	46213776	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.460000	0.80816	1.604000	0.50143	-0.186000	0.12905	ACA	A|0.618;G|0.382	0.382	strong		0.378	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		G	48426484	A	G	48426484	3	3	27	1	0	0	0	0	1	0	0	0	14469	159	6	2	341	2	SLC24A5	15	48426484	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	363408	48426484	54104908	425	22113										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51772895	51772895	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttctgcatgctctcgtttGgcctgcaatcttcttctttc	6	13	5	0	rs78376092	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:51772895G>T	ENST00000251076.5	-	24	6695	c.6408C>A	c.(6406-6408)gcC>gcA	p.A2136A	DMXL2_ENST00000543779.2_Silent_p.A2136A|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.A1500A	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2136						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCTCTCGTTTGGCCTGCAATC	0.458													G|||	59	0.0117812	0.0015	0.0029	5008	,	,		19487	0.0288		0.0129	False		,,,				2504	0.0133				p.A2136A		Atlas-SNP	.											DMXL2,NS,carcinoma,-1,1	DMXL2	262	1	0			c.C6408A						scavenged	.	G	,,	12,4380	19.1+/-41.9	0,12,2184	139	131	133		6408,4500,6408	-6.2	0.8	15	dbSNP_131	133	151,8435	73.5+/-136.2	2,147,4144	no	coding-synonymous,coding-synonymous,coding-synonymous	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	,,	2,159,6328	TT,TG,GG		1.7587,0.2732,1.256	,,	2136/3038,1500/2401,2136/3037	51772895	163,12815	2196	4293	6489	SO:0001819	synonymous_variant	23312	exon24			TCGTTTGGCCTGC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6408C>A	15.37:g.51772895G>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	137	3	0.0218978	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			G|0.987;T|0.013	0.013	strong		0.458	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51772895	G	T	51772895	2	4	27	1	0	0	0	0	0	0	0	1	4595	1335	47	4		4	DMXL2	15	51772895	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3346411	51772895	50758497	426	22114										
DMXL2	23312	hgsc.bcm.edu	37	chr15	51795172	51795172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtttctggagaagaatctacGttcttctgtccagggactga	11	8	4	3	rs12592889	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:51795172G>A	ENST00000251076.5	-	17	3110	c.2823C>T	c.(2821-2823)aaC>aaT	p.N941N	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.N941N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	941						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.N941N(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGAATCTACGTTCTTCTGTC	0.378													A|||	2060	0.411342	0.3011	0.4813	5008	,	,		16613	0.4077		0.5159	False		,,,				2504	0.407				p.N941N		Atlas-SNP	.											DMXL2,NS,carcinoma,0,1	DMXL2	262	1	1	Substitution - coding silent(1)	stomach(1)	c.C2823T						scavenged	.	A	,,	1548,2842	669.4+/-402.2	277,994,924	89	93	92		2823,,2823	-0.2	0	15	dbSNP_120	92	4328,4258	573.8+/-389.9	1103,2122,1068	no	coding-synonymous,intron,coding-synonymous	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	,,	1380,3116,1992	AA,AG,GG		49.5924,35.262,45.2836	,,	941/3038,,941/3037	51795172	5876,7100	2195	4293	6488	SO:0001819	synonymous_variant	23312	exon17			ATCTACGTTCTTC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2823C>T	15.37:g.51795172G>A		Somatic	170	1	0.00588235		WXS	Illumina HiSeq	Phase_I	198	10	0.050505	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			G|0.548;A|0.452	0.452	strong		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51795172	G	A	51795172	2	1	27	1	0	0	0	0	0	0	0	1	4595	1136	40	1		1	DMXL2	15	51795172	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	22277	51795172	50736220	427	22115										
UNC13C	440279	hgsc.bcm.edu	37	chr15	54847677	54847677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggtctgacgccaagacaatgCgctataatggaggtagtcct	12	9	1	2	rs11639005	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:54847677C>T	ENST00000260323.11	+	28	5925	c.5925C>T	c.(5923-5925)tgC>tgT	p.C1975C	UNC13C_ENST00000545554.1_Silent_p.C1975C|UNC13C_ENST00000537900.1_Silent_p.C1973C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1975	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGACAATGCGCTATAATGG	0.453													C|||	2050	0.409345	0.1233	0.464	5008	,	,		18348	0.5427		0.4423	False		,,,				2504	0.5859				p.C1975C		Atlas-SNP	.											.	UNC13C	674	.	0			c.C5925T						PASS	.	C		680,3214		57,566,1324	80	77	78		5925	-4.4	0	15	dbSNP_120	78	3562,4696		787,1988,1354	no	coding-synonymous	UNC13C	NM_001080534.1		844,2554,2678	TT,TC,CC		43.1339,17.4628,34.9078		1975/2215	54847677	4242,7910	1947	4129	6076	SO:0001819	synonymous_variant	440279	exon27			ACAATGCGCTATA	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5925C>T	15.37:g.54847677C>T		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	95	7	0.0736842	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																			C|0.625;T|0.375	0.375	strong		0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54847677	C	T	54847677	2	4	27	1	0	0	0	0	0	0	0	1	16983	776	27	1		1	UNC13C	15	54847677	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3052505	54847677	47683715	428	22116										
RNF111	54778	hgsc.bcm.edu	37	chr15	59347929	59347929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctcattggagccagggttcCagttctcatgcaagtcggcc	11	12	2	0	rs1446239	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:59347929C>A	ENST00000557998.1	+	4	1343	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S	RNF111_ENST00000434298.1_Silent_p.S352S|RNF111_ENST00000561186.1_Silent_p.S352S|RNF111_ENST00000559209.1_Silent_p.S352S|RNF111_ENST00000348370.4_Silent_p.S352S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	352	Interaction with AXIN1.|Ser-rich.				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)		GCCAGGGTTCCAGTTCTCATG	0.433													A|||	2212	0.441693	0.6611	0.4986	5008	,	,		16383	0.4405		0.3161	False		,,,				2504	0.2352				p.S352S	NSCLC(72;983 1365 10746 34387 47081)	Atlas-SNP	.											RNF111_ENST00000434298,rectum,carcinoma,0,4	RNF111	179	4	0			c.C1056A						PASS	.	A		2723,1661	505.6+/-366.2	863,997,332	56	48	51		1056	0	1	15	dbSNP_88	51	3016,5566	661.7+/-401.9	560,1896,1835	yes	coding-synonymous	RNF111	NM_017610.6		1423,2893,2167	AA,AC,CC		35.1433,37.8878,44.2619		352/987	59347929	5739,7227	2192	4291	6483	SO:0001819	synonymous_variant	54778	exon4			GGGTTCCAGTTCT	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.1056C>A	15.37:g.59347929C>A		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	211	12	0.056872	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																			C|0.554;A|0.446	0.446	strong		0.433	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		A	59347929	C	A	59347929	2	1	27	1	0	0	0	0	0	0	0	1	13425	581	21	4		4	RNF111	15	59347929	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4500252	59347929	43183463	429	22117										
LACTB	114294	hgsc.bcm.edu	37	chr15	63433785	63433785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggaaacaaacgtatggttcGtgtagaaagcaacggcatta	11	6	0	1	rs4775629	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:63433785G>A	ENST00000261893.4	+	6	1497	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	475						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.S475S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CGTATGGTTCGTGTAGAAAGC	0.483													G|||	615	0.122804	0.1921	0.0922	5008	,	,		20324	0.1677		0.0308	False		,,,				2504	0.0992				p.S475S	Melanoma(85;443 1381 6215 27308 35583)	Atlas-SNP	.											LACTB,NS,carcinoma,0,1	LACTB	29	1	1	Substitution - coding silent(1)	stomach(1)	c.G1425A						scavenged	.	G		735,3671	304.1+/-288.3	72,591,1540	77	67	70		1425	-5.8	0.9	15	dbSNP_111	70	206,8394	88.6+/-150.9	2,202,4096	no	coding-synonymous	LACTB	NM_032857.3		74,793,5636	AA,AG,GG		2.3953,16.6818,7.2351		475/548	63433785	941,12065	2203	4300	6503	SO:0001819	synonymous_variant	114294	exon6			TGGTTCGTGTAGA	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1425G>A	15.37:g.63433785G>A		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	142	4	0.028169	NM_032857	P83096	Silent	SNP	ENST00000261893.4	37	CCDS10182.1																																																																																			G|0.904;A|0.096	0.096	strong		0.483	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		A	63433785	G	A	63433785	2	1	27	1	0	0	0	0	0	0	0	1	8597	1132	40	1		1	LACTB	15	63433785	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4085856	63433785	39097607	430	22118										
APH1B	83464	hgsc.bcm.edu	37	chr15	63597857	63597857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ataaacctggcgtcagcattTataatcctggtgctcatggg	10	9	2	0	rs1047552	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:63597857T>G	ENST00000261879.5	+	6	721	c.651T>G	c.(649-651)ttT>ttG	p.F217L	APH1B_ENST00000380343.4_Missense_Mutation_p.F176L|APH1B_ENST00000560716.1_3'UTR	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	217			F -> L (in dbSNP:rs1047552).		apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.F217L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CGTCAGCATTTATAATCCTGG	0.443													T|||	401	0.0800719	0.0575	0.1167	5008	,	,		19199	0.1637		0.0388	False		,,,				2504	0.0409				p.F217L		Atlas-SNP	.											APH1B,NS,carcinoma,0,1	APH1B	27	1	1	Substitution - Missense(1)	stomach(1)	c.T651G	GRCh37	CM086277	APH1B	M	rs1047552	PASS	.	T	LEU/PHE,LEU/PHE	244,4162	141.9+/-177.2	10,224,1969	70	74	73		528,651	0	0	15	dbSNP_86	73	259,8341	100.8+/-162.1	6,247,4047	yes	missense,missense	APH1B	NM_001145646.1,NM_031301.3	22,22	16,471,6016	GG,GT,TT		3.0116,5.5379,3.8674	benign,benign	176/217,217/258	63597857	503,12503	2203	4300	6503	SO:0001583	missense	83464	exon6			AGCATTTATAATC	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.651T>G	15.37:g.63597857T>G	ENSP00000261879:p.Phe217Leu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	86	5	0.0581395	NM_031301	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	222	0.10164835164835165	43	0.08739837398373984	36	0.09944751381215469	117	0.20454545454545456	26	0.03430079155672823	T	8.914	0.959432	0.18507	0.055379	0.030116	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.41065	1.01;1.01	4.93	0.0142	0.14099	.	0.068865	0.64402	D	0.000012	T	0.00039	0.0001	N	0.24115	0.695	0.54753	P	1.799999999996249E-5	B;B	0.20671	0.047;0.047	B;B	0.25506	0.061;0.061	T	0.14896	-1.0456	9	0.45353	T	0.12	-7.5573	7.3785	0.26841	0.0:0.487:0.0:0.513	rs1047552;rs3187561;rs52837075;rs1047552	176;217	Q564N3;Q8WW43	.;APH1B_HUMAN	L	176;217	ENSP00000369700:F176L;ENSP00000261879:F217L	ENSP00000261879:F217L	F	+	3	2	APH1B	61384910	0.121000	0.22262	0.002000	0.10522	0.030000	0.12068	-0.118000	0.10692	-0.029000	0.13827	-0.475000	0.04921	TTT	G|0.065;T|0.935	0.065	strong		0.443	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		G	63597857	T	G	63597857	3	3	27	1	0	0	0	0	1	0	0	0	772	1751	61	5	673	5	APH1B	15	63597857	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	164072	63597857	38933535	431	22119										
ALPK3	57538	hgsc.bcm.edu	37	chr15	85401419	85401419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccaggggaggctctgacaggTctcccggcagctacacctga	13	14	2	2	rs167379	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:85401419T>C	ENST00000258888.5	+	6	4223	c.4056T>C	c.(4054-4056)ggT>ggC	p.G1352G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1352					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGACAGGTCTCCCGGCAG	0.647													t|||	4246	0.847843	0.8729	0.7637	5008	,	,		16006	0.9554		0.8131	False		,,,				2504	0.7986				p.G1352G		Atlas-SNP	.											ALPK3_ENST00000258888,NS,carcinoma,0,2	ALPK3	289	2	0			c.T4056C						scavenged	.			3822,582		1655,512,35	16	21	19		4056	-11.2	0	15	dbSNP_79	19	7070,1528		2911,1248,140	yes	coding-synonymous	ALPK3	NM_020778.4		4566,1760,175	CC,CT,TT		17.7716,13.2153,16.2283		1352/1908	85401419	10892,2110	2202	4299	6501	SO:0001819	synonymous_variant	57538	exon6			GACAGGTCTCCCG	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4056T>C	15.37:g.85401419T>C		Somatic	113	1	0.00884956		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_020778	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																			T|0.150;C|0.850	0.850	strong		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85401419	T	C	85401419	2	2	27	1	0	0	0	0	0	0	0	1	546	1654	58	2		2	ALPK3	15	85401419	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	21803562	85401419	17129973	432	22120										
AGBL1	123624	hgsc.bcm.edu	37	chr15	86940622	86940622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgtccatatcaggtgatcacTgctcgagttcatccaggaga	10	11	3	2	rs4362360	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:86940622T>C	ENST00000441037.2	+	17	2357	c.2262T>C	c.(2260-2262)acT>acC	p.T754T	AGBL1_ENST00000389298.3_Silent_p.T485T|AGBL1_ENST00000421325.2_Silent_p.T754T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	754					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGGTGATCACTGCTCGAGTTC	0.428													C|||	3727	0.744209	0.9735	0.6859	5008	,	,		18211	0.88		0.4284	False		,,,				2504	0.6605				p.T754T		Atlas-SNP	.											.	AGBL1	151	.	0			c.T2262C						PASS	.	C		3501,379		1588,325,27	113	108	110		2262	-11	0.5	15	dbSNP_111	110	3879,4395		891,2097,1149	yes	coding-synonymous	AGBL1	NM_152336.2		2479,2422,1176	CC,CT,TT		46.8818,9.768,39.2792		754/1067	86940622	7380,4774	1940	4137	6077	SO:0001819	synonymous_variant	123624	exon17			GATCACTGCTCGA	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2262T>C	15.37:g.86940622T>C		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			T|0.292;C|0.708	0.708	strong		0.428	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		C	86940622	T	C	86940622	2	2	27	1	0	0	0	0	0	0	0	1	375	1567	55	3		3	AGBL1	15	86940622	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1539203	86940622	15590770	433	22121										
MEF2A	4205	hgsc.bcm.edu	37	chr15	100246936	100246936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcttttttgatctcacagaaTacccagaggatcagtagttc	7	9	3	3	rs325408|rs17854846	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr15:100246936T>C	ENST00000557785.1	+	9	1210	c.861T>C	c.(859-861)aaT>aaC	p.N287N	MEF2A_ENST00000338042.6_Silent_p.N296N|MEF2A_ENST00000557942.1_Silent_p.N295N|MEF2A_ENST00000453228.2_Silent_p.N287N|MEF2A_ENST00000354410.5_Silent_p.N289N|MEF2A_ENST00000449277.2_Silent_p.N219N|MEF2A_ENST00000558812.1_Silent_p.N227N	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	297					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCTCACAGAATACCCAGAGGA	0.408													T|||	3067	0.61242	0.2057	0.6369	5008	,	,		16617	0.7103		0.7922	False		,,,				2504	0.8589				p.N289N		Atlas-SNP	.											.	MEF2A	138	.	0			c.T867C						PASS	.	T	,,,,	1234,2640		200,834,903	88	78	81		861,681,657,861,867	-1.8	0.8	15	dbSNP_79	81	6551,1727		2598,1355,186	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MEF2A	NM_001130926.1,NM_001130927.1,NM_001130928.1,NM_001171894.1,NM_005587.2	,,,,	2798,2189,1089	CC,CT,TT		20.8625,31.8534,35.9365	,,,,	287/498,227/438,219/430,287/498,289/500	100246936	7785,4367	1937	4139	6076	SO:0001819	synonymous_variant	4205	exon9			ACAGAATACCCAG		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.861T>C	15.37:g.100246936T>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	94	4	0.0425532	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	ENST00000557785.1	37	CCDS53978.1																																																																																			T|0.332;C|0.668	0.668	strong		0.408	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			C	100246936	T	C	100246936	2	2	27	1	0	0	0	0	0	0	0	1	9455	1403	49	2		2	MEF2A	15	100246936	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	13306314	100246936	2284456	434	22122										
HAGHL	84264	hgsc.bcm.edu	37	chr16	778158	778158	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagctggcgcggcttcgtccCgggctggcggtgctgggcgc	20	13	0	0	rs1406815	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:778158C>G	ENST00000341413.4	+	4	494	c.213C>G	c.(211-213)ccC>ccG	p.P71P	HAGHL_ENST00000564545.1_Missense_Mutation_p.R50G|HAGHL_ENST00000564537.1_Silent_p.P71P|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000549114.1_Silent_p.P71P|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000561546.1_Silent_p.P71P|HAGHL_ENST00000389703.3_Silent_p.P71P			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	71							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGTCCCGGGCTGGCGG	0.781													c|||	2240	0.447284	0.3434	0.4784	5008	,	,		5375	0.7579		0.2396	False		,,,				2504	0.4591				p.P71P	Pancreas(46;538 1326 12403 32360)	Atlas-SNP	.											.	HAGHL	18	.	0			c.C213G						PASS	.						1	1	1					16																	778158		455	1002	1457	SO:0001819	synonymous_variant	84264	exon3			TCGTCCCGGGCTG	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"hydroxyacyl glutathione hydrolase-like"			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.213C>G	16.37:g.778158C>G		Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	8	7	0.875	NM_032304	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Silent	SNP	ENST00000341413.4	37																																																																																				C|0.556;G|0.444	0.444	strong		0.781	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		G	778158	C	G	778158	2	3	27	1	0	0	0	0	0	0	0	1	6946	639	23	4		4	HAGHL	16	778158	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		778158	89576595	435	22123										
TPSD1	23430	hgsc.bcm.edu	37	chr16	1306346	1306346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctgcccgtcctggcgagccCggcctacgtggcccctggtg	15	17	0	0	rs3865205	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:1306346C>T	ENST00000211076.3	+	1	213	c.65C>T	c.(64-66)cCg>cTg	p.P22L	TPSD1_ENST00000397534.2_Missense_Mutation_p.P15L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	22			P -> R (in dbSNP:rs3865205). {ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTGGCGAGCCCGGCCTACGTG	0.721													-|||	872	0.174121	0.3003	0.2522	5008	,	,		14799	0.123		0.0984	False		,,,				2504	0.0787				p.P22L		Atlas-SNP	.											TPSD1,rectum,carcinoma,0,4	TPSD1	47	4	0			c.C65T						scavenged	.	T	LEU/PRO	1156,3238		166,824,1207	32	40	37		65	0.1	0	16	dbSNP_108	37	783,7813		37,709,3552	no	missense	TPSD1	NM_012217.2	98	203,1533,4759	TT,TC,CC		9.1089,26.3086,14.9269	benign	22/243	1306346	1939,11051	2197	4298	6495	SO:0001583	missense	23430	exon1			CGAGCCCGGCCTA	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.65C>T	16.37:g.1306346C>T	ENSP00000211076:p.Pro22Leu	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	209	6	0.0287081	NM_012217	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	379	0.17353479853479853	154	0.3130081300813008	83	0.2292817679558011	75	0.13111888111888112	67	0.08839050131926121	-	6.229	0.410456	0.11812	0.263086	0.091089	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.80653	-1.4;-1.4	2.55	0.112	0.14623	.	2.133630	0.02279	N	0.069280	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05022	-1.0911	9	0.10111	T	0.7	.	6.9607	0.24595	0.0:0.3788:0.0:0.6212	rs3865205;rs3891050	22	Q9BZJ3	TRYD_HUMAN	L	15;22	ENSP00000380668:P15L;ENSP00000211076:P22L	ENSP00000211076:P22L	P	+	2	0	TPSD1	1246347	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-2.678000	0.00839	-0.544000	0.06232	-2.646000	0.00150	CCG	C|0.851;T|0.149	0.149	strong		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			T	1306346	C	T	1306346	3	4	27	1	0	0	0	0	1	0	0	0	16422	652	23	1	67	1	TPSD1	16	1306346	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	528188	1306346	89048407	436	22124										
RNPS1	10921	hgsc.bcm.edu	37	chr16	2305693	2305693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctaggccagggggccagcacGgcggtggcagtgatctcctg	17	12	1	1	rs117291307	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:2305693G>A	ENST00000565678.1	-	7	1256	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RNPS1_ENST00000397086.2_Silent_p.A237A|RNPS1_ENST00000301730.8_Silent_p.A237A|RNPS1_ENST00000566458.1_Silent_p.A214A|RNPS1_ENST00000566397.1_Silent_p.A60A|RNPS1_ENST00000569598.2_Silent_p.A143A|AC009065.1_ENST00000454671.1_Silent_p.T145T|RNPS1_ENST00000568631.1_Silent_p.A237A|RNPS1_ENST00000320225.5_Silent_p.A237A|RNPS1_ENST00000561718.1_Silent_p.A60A|RNPS1_ENST00000567147.1_Intron			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	237	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGGCCAGCACGGCGGTGGCAG	0.557													G|||	60	0.0119808	0.0	0.0216	5008	,	,		18398	0.0417		0.002	False		,,,				2504	0.001				p.A237A		Atlas-SNP	.											.	RNPS1	18	.	0			c.C711T						PASS	.	G	,	3,4391	6.2+/-15.9	0,3,2194	27	30	29		711,711	-2.3	1	16	dbSNP_132	29	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	RNPS1	NM_006711.3,NM_080594.2	,	0,3,6493	AA,AG,GG		0.0,0.0683,0.0231	,	237/306,237/306	2305693	3,12989	2197	4299	6496	SO:0001819	synonymous_variant	10921	exon7			CAGCACGGCGGTG	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.711C>T	16.37:g.2305693G>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	167	8	0.0479042	NM_006711	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	CCDS10465.1																																																																																			G|0.993;A|0.007	0.007	strong		0.557	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		A	2305693	G	A	2305693	2	1	27	1	0	0	0	0	0	0	0	1	13511	1103	39	1		1	RNPS1	16	2305693	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	999347	2305693	88049060	437	22125										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3789597	3789597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acctcgtgtttggaggggggCaatcagagccgtattcttgg	15	8	2	1	rs200616542		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:3789597C>A	ENST00000262367.5	-	25	5071	c.4262G>T	c.(4261-4263)tGc>tTc	p.C1421F	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1383F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1421	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1421Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAGGGGGGCAATCAGAGCC	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.C1421F		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	CREBBP,NS,lymphoid_neoplasm,0,1	CREBBP	546	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G4262T						scavenged	.						75	70	71					16																	3789597		2197	4300	6497	SO:0001583	missense	1387	exon25			GGGGGGCAATCAG	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4262G>T	16.37:g.3789597C>A	ENSP00000262367:p.Cys1421Phe	Somatic	74	1	0.0135135		WXS	Illumina HiSeq	Phase_I	76	45	0.592105	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.920342	0.73098	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93133	-3.17;-3.17	5.36	5.36	0.76844	.	0.128977	0.56097	D	0.000038	D	0.97813	0.9282	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98507	1.0617	10	0.72032	D	0.01	-14.7453	19.4402	0.94817	0.0:1.0:0.0:0.0	.	1451;1421	Q4LE28;Q92793	.;CBP_HUMAN	F	1421;1451;1383;10	ENSP00000262367:C1421F;ENSP00000371502:C1383F	ENSP00000262367:C1421F	C	-	2	0	CREBBP	3729598	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.713000	0.84693	2.665000	0.90641	0.561000	0.74099	TGC	.	.	alt		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3789597	C	A	3789597	3	1	27	1	0	0	0	0	1	0	0	0	3861	710	25	4	3094	4	CREBBP	16	3789597	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1483904	3789597	86565156	438	22126										
CORO7	79585	hgsc.bcm.edu	37	chr16	4445327	4445327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgttctggggtcaaagatcCgcagctgcttgtcctggaaa	12	9	2	1	rs3747579	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:4445327C>T	ENST00000251166.4	-	7	723	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	CORO7_ENST00000539968.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R193Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R108Q|CORO7_ENST00000423908.2_Missense_Mutation_p.R25Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R175Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	193			R -> Q (in dbSNP:rs3747579). {ECO:0000269|PubMed:14702039}.		actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTCAAAGATCCGCAGCTGCTT	0.607													C|||	2541	0.507388	0.1172	0.5836	5008	,	,		18193	0.7817		0.7097	False		,,,				2504	0.4898				p.R193Q		Atlas-SNP	.											CORO7,NS,carcinoma,0,1	CORO7	73	1	0			c.G578A						scavenged	.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	961,3433	363.1+/-316.4	113,735,1349	72	73	73		524,323,578,578	4.2	1	16	dbSNP_107	73	6154,2446	697.8+/-405.0	2222,1710,368	yes	missense,missense,missense,missense	CORO7,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4	43,43,43,43	2335,2445,1717	TT,TC,CC		28.4419,21.8707,45.244	probably-damaging,probably-damaging,probably-damaging,probably-damaging	175/908,108/841,193/1049,193/926	4445327	7115,5879	2197	4300	6497	SO:0001583	missense	79585	exon7			AAGATCCGCAGCT	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.578G>A	16.37:g.4445327C>T	ENSP00000251166:p.Arg193Gln	Somatic	102	1	0.00980392		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_024535	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	1296	0.5934065934065934	59	0.11991869918699187	216	0.5966850828729282	471	0.8234265734265734	550	0.7255936675461742	C	17.84	3.487498	0.63962	0.218707	0.715581	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000423908	T;T	0.67865	-0.29;4.88	4.17	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.422202	0.23997	N	0.042517	T	0.00012	0.0000	M	0.85373	2.75	0.27201	P	0.9601589	P;D	0.71674	0.855;0.998	B;D	0.76575	0.11;0.988	T	0.38178	-0.9673	9	0.59425	D	0.04	-26.2535	11.8635	0.52480	0.0:1.0:0.0:0.0	rs3747579;rs52808084;rs56564879;rs57253852;rs3747579	108;193	P57737-2;P57737	.;CORO7_HUMAN	Q	193;108;25	ENSP00000251166:R193Q;ENSP00000391530:R25Q	ENSP00000251166:R193Q	R	-	2	0	CORO7	4385328	0.120000	0.22244	0.993000	0.49108	0.986000	0.74619	1.096000	0.30976	2.135000	0.66039	0.563000	0.77884	CGG	C|0.451;T|0.549	0.549	strong		0.607	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4445327	C	T	4445327	3	4	27	1	0	0	0	0	1	0	0	0	3759	652	23	1	2287	1	CORO7	16	4445327	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	655730	4445327	85909426	439	22127										
CIITA	4261	hgsc.bcm.edu	37	chr16	11001270	11001271	+	Frame_Shift_Del	DEL	TA	TA	-													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctccacgctcacgggactcTatgtcggcctgctgggccgt							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:11001270_11001271delTA	ENST00000324288.8	+	11	2054_2055	c.1921_1922delTA	c.(1921-1923)tatfs	p.Y641fs	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	641	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACGGGACTCTATGTCGGCCTG	0.688			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.640_641del		Atlas-Indel	.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA	92	.	0			c.1920_1921del						PASS	.																																			SO:0001589	frameshift_variant	4261	exon11			.	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1921_1922delTA	16.37:g.11001270_11001271delTA	ENSP00000316328:p.Tyr641fs	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	97	19	0.195876	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Del	DEL	ENST00000324288.8	37	CCDS10544.1																																																																																			.	.	none		0.688	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		-	11001271	TA	-	11001270	7	5	27	1	0	1	0	1	0	0	0	0	3428	1522	53	0	1963	0	CIITA	16	11001270	Frame_Shift_Del	DEL	TA	TCGA-GR-A4D9-01B-11D-A31X-10	6555943	11001270	79353483	440	22128										
GDE1	51573	hgsc.bcm.edu	37	chr16	19516398	19516398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttaatgctgttattacatccCgatctgtttgtctcatctgc	6	10	3	0	rs2072086	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:19516398C>T	ENST00000353258.3	-	5	833	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	CTA-363E6.7_ENST00000569345.1_RNA	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	218	GP-PDE.		R -> Q (in dbSNP:rs2072086).		glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TATTACATCCCGATCTGTTTG	0.353													C|||	14	0.00279553	0.0	0.0	5008	,	,		20236	0.0139		0.0	False		,,,				2504	0.0				p.R218Q		Atlas-SNP	.											GDE1,caecum,carcinoma,-1,2	GDE1	31	2	0			c.G653A						scavenged	.	C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	184	179	180		653	-2.8	0.2	16	dbSNP_96	180	0,8600		0,0,4300	yes	missense	GDE1	NM_016641.3	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	218/332	19516398	1,12993	2197	4300	6497	SO:0001583	missense	51573	exon5			ACATCCCGATCTG		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.653G>A	16.37:g.19516398C>T	ENSP00000261386:p.Arg218Gln	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	165	4	0.0242424	NM_016641	O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	CCDS10578.1	14	0.00641025641025641	0	0.0	0	0.0	14	0.024475524475524476	0	0.0	C	8.757	0.922737	0.18056	2.28E-4	0.0	ENSG00000006007	ENST00000353258	T	0.11277	2.79	5.66	-2.78	0.05859	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.504521	0.22467	N	0.059671	T	0.02533	0.0077	N	0.19112	0.55	0.28069	N	0.932669	B	0.11235	0.004	B	0.09377	0.004	T	0.25606	-1.0127	10	0.40728	T	0.16	-0.5592	9.2607	0.37610	0.0:0.5814:0.1267:0.2919	rs2072086;rs2072086	218	Q9NZC3	GDE1_HUMAN	Q	218	ENSP00000261386:R218Q	ENSP00000261386:R218Q	R	-	2	0	GDE1	19423899	0.998000	0.40836	0.190000	0.23270	0.316000	0.28119	1.481000	0.35476	-0.401000	0.07644	-1.261000	0.01458	CGG	C|0.996;T|0.004	0.004	strong		0.353	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		T	19516398	C	T	19516398	3	4	27	1	0	0	0	0	1	0	0	0	6310	652	23	1	350	1	GDE1	16	19516398	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8515128	19516398	70838355	441	22129										
CP110	9738	hgsc.bcm.edu	37	chr16	19547747	19547747	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgcagtctgagaggtagtatCaacagaattgttaatgagag	12	5	2	3	rs226891	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:19547747C>G	ENST00000381396.5	+	4	1003	c.756C>G	c.(754-756)atC>atG	p.I252M	CCP110_ENST00000396208.2_Missense_Mutation_p.I252M|CCP110_ENST00000396212.2_Missense_Mutation_p.I252M	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	252			I -> M (in dbSNP:rs226891). {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9455477}.		cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.I252M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GAGGTAGTATCAACAGAATTG	0.388													G|||	4147	0.828075	0.9637	0.8602	5008	,	,		20963	0.7579		0.9324	False		,,,				2504	0.5869				p.I252M		Atlas-SNP	.											CCP110,NS,carcinoma,0,1	CCP110	57	1	1	Substitution - Missense(1)	stomach(1)	c.C756G						scavenged	.	G	MET/ILE,MET/ILE	4165,229	134.5+/-170.7	1972,221,4	65	65	65		756,756	-7.8	0	16	dbSNP_79	65	7888,712	171.0+/-222.0	3613,662,25	yes	missense,missense	CCP110	NM_001199022.1,NM_014711.4	10,10	5585,883,29	GG,GC,CC		8.2791,5.2117,7.2418	benign,benign	252/1013,252/992	19547747	12053,941	2197	4300	6497	SO:0001583	missense	9738	exon4			TAGTATCAACAGA	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.756C>G	16.37:g.19547747C>G	ENSP00000370803:p.Ile252Met	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	1935	0.885989010989011	476	0.967479674796748	311	0.8591160220994475	449	0.784965034965035	699	0.9221635883905013	G	2.101	-0.406059	0.04832	0.947883	0.917209	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.14266	2.52;2.53;2.52	5.89	-7.75	0.01236	.	1.516010	0.03430	N	0.207608	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.13594	0.008;0.008	B;B	0.08055	0.002;0.003	T	0.34675	-0.9819	9	0.42905	T	0.14	-17.0742	3.376	0.07238	0.2849:0.3818:0.24:0.0933	rs226891;rs394162;rs17857124;rs52827190;rs61313075;rs226891	252;252	O43303;O43303-2	CP110_HUMAN;.	M	252	ENSP00000379515:I252M;ENSP00000370803:I252M;ENSP00000379511:I252M	ENSP00000370803:I252M	I	+	3	3	CCP110	19455248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.056000	0.03489	-1.174000	0.02754	-1.093000	0.02169	ATC	C|0.098;G|0.902	0.902	strong		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		G	19547747	C	G	19547747	3	3	27	1	0	0	0	0	1	0	0	0	3788	816	29	4	766	4	CP110	16	19547747	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	31349	19547747	70807006	442	22130										
C16orf62	57020	hgsc.bcm.edu	37	chr16	19680546	19680546	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccaaagatgattaatattgaTgggaagatgcggccatcgga	12	6	0	4	rs957676	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:19680546T>C	ENST00000251143.5	+	27	2298	c.2286T>C	c.(2284-2286)gaT>gaC	p.D762D	C16orf62_ENST00000448695.1_Silent_p.D612D|C16orf62_ENST00000542263.1_Silent_p.D758D|C16orf62_ENST00000438132.3_Silent_p.D851D|C16orf62_ENST00000417362.2_Silent_p.D669D|C16orf62_ENST00000543152.1_Silent_p.D511D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	762						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTAATATTGATGGGAAGATGC	0.408													C|||	1627	0.32488	0.3729	0.3098	5008	,	,		19645	0.2887		0.34	False		,,,				2504	0.2924				p.D851D		Atlas-SNP	.											.	C16orf62	164	.	0			c.T2553C						PASS	.	C		1628,2764	659.7+/-400.6	290,1048,858	118	117	118		2553	-2.5	0.6	16	dbSNP_86	118	2851,5749	674.3+/-403.1	467,1917,1916	no	coding-synonymous	C16orf62	NM_020314.5		757,2965,2774	CC,CT,TT		33.1512,37.0674,34.4751		851/1053	19680546	4479,8513	2196	4300	6496	SO:0001819	synonymous_variant	57020	exon27			TATTGATGGGAAG		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2286T>C	16.37:g.19680546T>C		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	76	5	0.0657895	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																				T|0.656;C|0.344	0.344	strong		0.408	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		C	19680546	T	C	19680546	2	2	27	1	0	0	0	0	0	0	0	1	1825	1461	51	2		2	C16orf62	16	19680546	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	132799	19680546	70674207	443	22131										
ACSM2A	123876	hgsc.bcm.edu	37	chr16	20494408	20494408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcatttgtggtcctggcctCgcagttcctgtcccatgacc	11	14	0	1	rs1133607	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:20494408C>T	ENST00000573854.1	+	13	1652	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	ACSM2A_ENST00000575690.1_Missense_Mutation_p.S513L|ACSM2A_ENST00000536134.1_Missense_Mutation_p.S285L|ACSM2A_ENST00000219054.6_Missense_Mutation_p.S513L|ACSM2A_ENST00000417235.2_Missense_Mutation_p.S434L|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S513L	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	513			S -> L (in dbSNP:rs1133607). {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:12654705, ECO:0000269|PubMed:16521160}.		fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCCTGGCCTCGCAGTTCCTG	0.502													c|||	705	0.140775	0.1301	0.1369	5008	,	,		17954	0.1984		0.0746	False		,,,				2504	0.1667				p.S513L		Atlas-SNP	.											ACSM2A,NS,carcinoma,+1,1	ACSM2A	120	1	0			c.C1538T						scavenged	.	C	LEU/SER	551,3855	250.0+/-257.2	33,485,1685	199	178	185		1538	3.3	1	16	dbSNP_86	185	872,7728	197.6+/-242.2	31,810,3459	no	missense	ACSM2A	NM_001010845.2	145	64,1295,5144	TT,TC,CC		10.1395,12.5057,10.9411	benign	513/578	20494408	1423,11583	2203	4300	6503	SO:0001583	missense	123876	exon14			TGGCCTCGCAGTT	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1538C>T	16.37:g.20494408C>T	ENSP00000459451:p.Ser513Leu	Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	117	6	0.0512821	NM_001010845	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	312	0.14285714285714285	74	0.15040650406504066	52	0.143646408839779	115	0.20104895104895104	71	0.09366754617414248	C	14.03	2.414161	0.42817	0.125057	0.101395	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	3.26	3.26	0.37387	.	0.461328	0.18403	N	0.142287	T	0.00073	0.0002	L	0.51914	1.62	0.09310	P	0.999999999999518	B	0.06786	0.001	B	0.04013	0.001	T	0.13415	-1.0510	9	0.66056	D	0.02	-0.9891	14.417	0.67158	0.0:1.0:0.0:0.0	rs1133607;rs1634313;rs3195484;rs16970281;rs52800134;rs1133607	513	Q08AH3	ACS2A_HUMAN	L	434;513;285;513	ENSP00000392169:S434L;ENSP00000219054:S513L;ENSP00000445082:S285L;ENSP00000379411:S513L	ENSP00000219054:S513L	S	+	2	0	ACSM2A	20401909	0.171000	0.23029	0.987000	0.45799	0.913000	0.54294	4.507000	0.60434	1.507000	0.48752	0.305000	0.20034	TCG	C|0.880;T|0.120	0.120	strong		0.502	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20494408	C	T	20494408	3	4	27	1	0	0	0	0	1	0	0	0	183	893	31	1	1584	1	ACSM2A	16	20494408	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	813862	20494408	69860345	444	22132										
OTOA	146183	hgsc.bcm.edu	37	chr16	21742188	21742188	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cactggacagccgagaccacGaaggacttgggaccctttct	11	13	1	1	rs76494517	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:21742188G>A	ENST00000286149.4	+	20	2281	c.2280G>A	c.(2278-2280)acG>acA	p.T760T	OTOA_ENST00000388958.3_Silent_p.T746T|OTOA_ENST00000388957.3_Silent_p.T422T|OTOA_ENST00000388956.4_Silent_p.T667T			Q7RTW8	OTOAN_HUMAN	otoancorin	760					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCGAGACCACGAAGGACTTGG	0.448																																					p.T746T		Atlas-SNP	.											OTOA_ENST00000388957,NS,haematopoietic_neoplasm,+1,3	OTOA	144	3	0			c.G2238A						scavenged	.	G	,,	17,4373	21.2+/-45.6	1,15,2179	90	72	78		2001,2238,1266	-8.2	0	16	dbSNP_131	78	25,8523	16.6+/-54.9	2,21,4251	no	coding-synonymous,coding-synonymous,coding-synonymous	OTOA	NM_001161683.1,NM_144672.3,NM_170664.2	,,	3,36,6430	AA,AG,GG		0.2925,0.3872,0.3246	,,	667/1061,746/1140,422/816	21742188	42,12896	2195	4274	6469	SO:0001819	synonymous_variant	146183	exon20			GACCACGAAGGAC	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2280G>A	16.37:g.21742188G>A		Somatic	914	4	0.00437637		WXS	Illumina HiSeq	Phase_I	1039	20	0.0192493	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37																																																																																				G|0.972;A|0.028	0.028	strong		0.448	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			A	21742188	G	A	21742188	2	1	27	1	0	0	0	0	0	0	0	1	11302	1045	37	1		1	OTOA	16	21742188	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1247780	21742188	68612565	445	22133										
VWA3A	146177	hgsc.bcm.edu	37	chr16	22144318	22144318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgagccaaagatggacaccaCaccccctgcccgctatgcca	8	18	0	1	rs1105929	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:22144318C>T	ENST00000389398.5	+	20	2066	c.1970C>T	c.(1969-1971)aCa>aTa	p.T657I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	657	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.		T -> I (in dbSNP:rs1105929). {ECO:0000269|PubMed:14702039}.			extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATGGACACCACACCCCCTGCC	0.627													c|||	3000	0.599042	0.8177	0.353	5008	,	,		17039	0.7788		0.2734	False		,,,				2504	0.6278				p.T657I		Atlas-SNP	.											.	VWA3A	115	.	0			c.C1970T						PASS	.	T	ILE/THR	2900,1284		1007,886,199	45	50	48		1970	-5.8	0	16	dbSNP_86	48	2277,6105		321,1635,2235	yes	missense	VWA3A	NM_173615.3	89	1328,2521,2434	TT,TC,CC		27.1654,30.6883,41.1985	benign	657/1185	22144318	5177,7389	2092	4191	6283	SO:0001583	missense	146177	exon20			ACACCACACCCCC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1970C>T	16.37:g.22144318C>T	ENSP00000374049:p.Thr657Ile	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	71	5	0.0704225	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	1120	0.5128205128205128	370	0.7520325203252033	119	0.3287292817679558	422	0.7377622377622378	209	0.2757255936675462	c	0.412	-0.912760	0.02415	0.693117	0.271654	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.23348	1.91	5.49	-5.8	0.02347	.	1.126930	0.06439	N	0.725536	T	0.00012	0.0000	N	0.03115	-0.41	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.002	T	0.31888	-0.9927	9	0.15499	T	0.54	.	12.3394	0.55085	0.0:0.1593:0.1052:0.7355	rs1105929;rs4261529;rs52803518;rs59925558;rs1105929	657;281	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	I	657;280	ENSP00000374049:T657I	ENSP00000299840:T280I	T	+	2	0	VWA3A	22051819	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-2.116000	0.01327	-1.309000	0.02315	-0.753000	0.03488	ACA	C|0.477;T|0.523	0.523	strong		0.627	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			T	22144318	C	T	22144318	3	4	27	1	0	0	0	0	1	0	0	0	17237	478	17	2	2048	2	VWA3A	16	22144318	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	402130	22144318	68210435	446	22134										
HS3ST2	9956	hgsc.bcm.edu	37	chr16	22826243	22826243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctctccggttccaaccactcCggctcacccaagctgggtac	8	18	2	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:22826243C>T	ENST00000261374.3	+	1	746	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	104					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCAACCACTCCGGCTCACCCA	0.716																																					p.S104S		Atlas-SNP	.											.	HS3ST2	59	.	0			c.C312T						PASS	.						7	9	8					16																	22826243		2158	4266	6424	SO:0001819	synonymous_variant	9956	exon1			CCACTCCGGCTCA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.312C>T	16.37:g.22826243C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	66	21	0.318182	NM_006043	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																			.	.	none		0.716	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		T	22826243	C	T	22826243	2	4	27	1	0	0	0	0	0	0	0	1	7364	639	23	1		1	HS3ST2	16	22826243	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	681925	22826243	67528510	447	22135										
ARMC5	79798	hgsc.bcm.edu	37	chr16	31473872	31473872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatgagctccggcagcgccGggatcctaatggagctagcc	14	12	0	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:31473872G>A	ENST00000563544.1	+	4	1550	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	ARMC5_ENST00000538189.1_Missense_Mutation_p.R367Q|ARMC5_ENST00000408912.3_Missense_Mutation_p.R430Q|ARMC5_ENST00000268314.4_Missense_Mutation_p.R335Q|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000457010.2_Missense_Mutation_p.R335Q|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	335										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGGCAGCGCCGGGATCCTAAT	0.647																																					p.R335Q		Atlas-SNP	.											ARMC5_ENST00000457010,NS,carcinoma,+1,2	ARMC5	94	2	0			c.G1004A						PASS	.						36	41	39					16																	31473872		1998	4168	6166	SO:0001583	missense	79798	exon3			AGCGCCGGGATCC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1004G>A	16.37:g.31473872G>A	ENSP00000456877:p.Arg335Gln	Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	26	10	0.384615	NM_024742	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371251	0.42003	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.8	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000055	T	0.31009	0.0783	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;P	0.72982	0.979;0.979;0.979;0.895	T	0.02596	-1.1136	10	0.15066	T	0.55	-5.4148	13.3511	0.60603	0.0:0.0:1.0:0.0	.	367;430;335;335	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	Q	430;367;335;335	ENSP00000386125:R430Q;ENSP00000443995:R367Q;ENSP00000268314:R335Q;ENSP00000399561:R335Q	ENSP00000268314:R335Q	R	+	2	0	ARMC5	31381373	0.993000	0.37304	0.894000	0.35097	0.044000	0.14063	3.649000	0.54417	2.217000	0.71921	0.457000	0.33378	CGG	.	.	none		0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		A	31473872	G	A	31473872	3	1	27	1	0	0	0	0	1	0	0	0	954	1116	39	1	1014	1	ARMC5	16	31473872	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	8647629	31473872	58880881	448	22136										
ZNF423	23090	hgsc.bcm.edu	37	chr16	49672444	49672444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caggtggatcttgaggtggtCgctgcgggagaaggctgcct	18	8	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:49672444C>T	ENST00000561648.1	-	4	672	c.619G>A	c.(619-621)Gac>Aac	p.D207N	ZNF423_ENST00000535559.1_Missense_Mutation_p.D90N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D207N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D90N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D147N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D147N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D147N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	207					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D207Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAGGTGGTCGCTGCGGGAG	0.602																																					p.D207N		Atlas-SNP	.											ZNF423_ENST00000262383,NS,carcinoma,0,1	ZNF423	463	1	1	Substitution - Missense(1)	ovary(1)	c.G619A						PASS	.						67	48	55					16																	49672444		2198	4300	6498	SO:0001583	missense	23090	exon4			GGTGGTCGCTGCG	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.619G>A	16.37:g.49672444C>T	ENSP00000455426:p.Asp207Asn	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044496	0.75732	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07567	3.18;3.18	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	L	0.41079	1.255	0.49483	D	0.999796	D	0.89917	1.0	D	0.91635	0.999	T	0.01099	-1.1452	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	207	Q2M1K9	ZN423_HUMAN	N	207;90	ENSP00000262383:D207N;ENSP00000442321:D90N	.	D	-	1	0	ZNF423	48229945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	2.331000	0.79229	0.561000	0.74099	GAC	.	.	none		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		T	49672444	C	T	49672444	3	4	27	1	0	0	0	0	1	0	0	0	17895	884	31	1	3255	1	ZNF423	16	49672444	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	18198572	49672444	40682309	449	22137										
SETD6	79918	hgsc.bcm.edu	37	chr16	58550484	58550484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gagtaccagtccatcgtgctGcccttcatggaagcccaccc	9	16	1	0	rs3743567	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:58550484G>A	ENST00000219315.4	+	4	629	c.579G>A	c.(577-579)ctG>ctA	p.L193L	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.L169L|SETD6_ENST00000394266.4_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	193	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CCATCGTGCTGCCCTTCATGG	0.617													G|||	691	0.137979	0.0953	0.1182	5008	,	,		16684	0.1796		0.0795	False		,,,				2504	0.227				p.L193L		Atlas-SNP	.											.	SETD6	27	.	0			c.G579A						PASS	.	G	,	401,3995	199.8+/-223.2	17,367,1814	104	109	107		579,507	2.3	1	16	dbSNP_107	107	825,7775	190.7+/-237.1	39,747,3514	no	coding-synonymous,coding-synonymous	SETD6	NM_001160305.1,NM_024860.2	,	56,1114,5328	AA,AG,GG		9.593,9.1219,9.4337	,	193/474,169/450	58550484	1226,11770	2198	4300	6498	SO:0001819	synonymous_variant	79918	exon4			CGTGCTGCCCTTC	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.579G>A	16.37:g.58550484G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	89	5	0.0561798	NM_001160305	A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	CCDS54013.1																																																																																			G|0.896;A|0.104	0.104	strong		0.617	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		A	58550484	G	A	58550484	2	1	27	1	0	0	0	0	0	0	0	1	14135	1306	46	2		2	SETD6	16	58550484	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	8878040	58550484	31804269	450	22138										
DYNC1LI2	1783	hgsc.bcm.edu	37	chr16	66783159	66783159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctaggcctcttccttttttgCcatgctcagctccttgtagt	7	13	2	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:66783159C>T	ENST00000258198.2	-	3	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	DYNC1LI2_ENST00000440564.2_Intron|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.G80D|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.G80D	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	80					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCCTTTTTTGCCATGCTCAGC	0.458																																					p.G80D		Atlas-SNP	.											.	DYNC1LI2	37	.	0			c.G239A						PASS	.						246	213	224					16																	66783159		2200	4300	6500	SO:0001583	missense	1783	exon3			TTTTTGCCATGCT	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.239G>A	16.37:g.66783159C>T	ENSP00000258198:p.Gly80Asp	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_006141	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377507	0.42105	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351	T;T;T	0.28666	1.6;1.6;1.6	4.81	4.81	0.61882	.	0.164538	0.56097	D	0.000039	T	0.13286	0.0322	N	0.03608	-0.345	0.39621	D	0.97003	B;B;B	0.23735	0.0;0.09;0.022	B;B;B	0.29440	0.004;0.01;0.102	T	0.13442	-1.0509	10	0.07175	T	0.84	-23.9298	11.5313	0.50612	0.0:0.9183:0.0:0.0816	.	80;80;80	B4DHD8;B4DZP4;O43237	.;.;DC1L2_HUMAN	D	80	ENSP00000258198:G80D;ENSP00000368795:G80D;ENSP00000394289:G80D	ENSP00000258198:G80D	G	-	2	0	DYNC1LI2	65340660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.649000	0.54417	2.494000	0.84150	0.455000	0.32223	GGC	.	.	none		0.458	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		T	66783159	C	T	66783159	3	4	27	1	0	0	0	0	1	0	0	0	4845	739	26	2	1283	2	DYNC1LI2	16	66783159	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8232675	66783159	23571594	451	22139										
WWP2	11060	hgsc.bcm.edu	37	chr16	69967897	69967897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggtttttcctcctgtctcaTgaggtgctcaaccctatgta	8	11	2	1	rs2270841	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:69967897T>C	ENST00000359154.2	+	17	1808	c.1707T>C	c.(1705-1707)caT>caC	p.H569H	WWP2_ENST00000542271.1_Silent_p.H453H|WWP2_ENST00000568684.1_Silent_p.H130H|WWP2_ENST00000448661.1_Silent_p.H569H|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000356003.2_Silent_p.H569H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	569	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGTCTCATGAGGTGCTCA	0.483													C|||	4280	0.854633	0.947	0.7507	5008	,	,		23109	0.9683		0.7525	False		,,,				2504	0.7914				p.H569H		Atlas-SNP	.											WWP2,NS,carcinoma,0,1	WWP2	88	1	0			c.T1707C						PASS	.	C	,	3941,455	218.1+/-236.3	1767,407,24	186	170	175		1707,390	-3.6	0.8	16	dbSNP_100	175	6380,2220	378.8+/-339.0	2378,1624,298	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	4145,2031,322	CC,CT,TT		25.814,10.3503,20.5833	,	569/871,130/432	69967897	10321,2675	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon17			GTCTCATGAGGTG	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1707T>C	16.37:g.69967897T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	6	0.0705882	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			T|0.194;C|0.806	0.806	strong		0.483	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		C	69967897	T	C	69967897	2	2	27	1	0	0	0	0	0	0	0	1	17413	1461	51	2		2	WWP2	16	69967897	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3184738	69967897	20386856	452	22140										
WWP2	11060	hgsc.bcm.edu	37	chr16	69970329	69970329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcgagagcatccgggtcacAgaggagaacaaggaagagta	16	7	1	4	rs1983016	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:69970329A>G	ENST00000359154.2	+	19	2192	c.2091A>G	c.(2089-2091)acA>acG	p.T697T	WWP2_ENST00000542271.1_Silent_p.T581T|WWP2_ENST00000568684.1_Silent_p.T258T|WWP2_ENST00000448661.1_Silent_p.T697T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.T697T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	697	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCGGGTCACAGAGGAGAACA	0.592													g|||	4234	0.845447	0.907	0.7565	5008	,	,		18658	0.9663		0.7515	False		,,,				2504	0.7975				p.T697T		Atlas-SNP	.											WWP2,NS,carcinoma,0,2	WWP2	88	2	0			c.A2091G						scavenged	.		,	3794,602	265.0+/-266.4	1633,528,37	78	70	73		2091,774	-11.1	0	16	dbSNP_92	73	6405,2195	375.3+/-337.7	2394,1617,289	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	4027,2145,326	GG,GA,AA		25.5233,13.6943,21.522	,	697/871,258/432	69970329	10199,2797	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon19			GGTCACAGAGGAG	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2091A>G	16.37:g.69970329A>G		Somatic	136	2	0.0147059		WXS	Illumina HiSeq	Phase_I	116	4	0.0344828	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			A|0.193;G|0.807	0.807	strong		0.592	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		G	69970329	A	G	69970329	2	3	27	1	0	0	0	0	0	0	0	1	17413	175	7	3		3	WWP2	16	69970329	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2432	69970329	20384424	453	22141										
CLEC18A	348174	hgsc.bcm.edu	37	chr16	69988292	69988292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagggcagccctctgtggaaCcccaaccccgagcctggcgt	12	17	1	0	rs2549089	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:69988292C>T	ENST00000288040.6	+	3	459	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CLEC18A_ENST00000393701.2_Missense_Mutation_p.T91I|CLEC18A_ENST00000568461.1_Missense_Mutation_p.T91I|CLEC18A_ENST00000449317.2_Missense_Mutation_p.T91I	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	91	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T91I(2)		NS(1)|endometrium(2)|lung(1)|skin(1)	5						CTCTGTGGAACCCCAACCCCG	0.647													.|||	21	0.00419329	0.0159	0.0	5008	,	,		17779	0.0		0.0	False		,,,				2504	0.0				p.T91I		Atlas-SNP	.											CLEC18A,NS,malignant_melanoma,0,2	CLEC18A	9	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C272T						scavenged	.						55	53	54					16																	69988292		2198	4300	6498	SO:0001583	missense	348174	exon4			GTGGAACCCCAAC	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.272C>T	16.37:g.69988292C>T	ENSP00000288040:p.Thr91Ile	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	288	4	0.0138889	NM_001271197	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	3.377	-0.127284	0.06753	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	T;T;T	0.07800	3.16;3.16;3.16	1.97	0.987	0.19790	CAP domain (3);	0.641843	0.13978	N	0.349648	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28470	0.027;0.213;0.078	B;B;B	0.32022	0.014;0.139;0.087	T	0.42816	-0.9429	9	.	.	.	.	4.4066	0.11413	0.0:0.7949:0.0:0.2051	rs2549089	91;91;91	B4DPF2;A5D8T8;F8W692	.;CL18A_HUMAN;.	I	91	ENSP00000377304:T91I;ENSP00000413990:T91I;ENSP00000288040:T91I	.	T	+	2	0	CLEC18A	68545793	0.037000	0.19845	0.022000	0.16811	0.346000	0.29079	0.463000	0.21972	0.390000	0.25115	0.184000	0.17185	ACC	.	.	weak		0.647	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		T	69988292	C	T	69988292	3	4	27	1	0	0	0	0	1	0	0	0	3502	507	18	2	282	2	CLEC18A	16	69988292	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	17963	69988292	20366461	454	22142										
CLEC18C	283971	hgsc.bcm.edu	37	chr16	70211218	70211218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atcccaaccccgagcctggcGtccggcctgtggcgcaccct	11	19	0	0	rs149087931	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:70211218G>A	ENST00000569347.2	+	3	545	c.291G>A	c.(289-291)gcG>gcA	p.A97A	CLEC18C_ENST00000536907.2_Silent_p.A97A|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000541793.2_Silent_p.A97A|CLEC18C_ENST00000314151.8_Silent_p.A97A	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	97	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						CGAGCCTGGCGTCCGGCCTGT	0.637																																					p.A97A		Atlas-SNP	.											CLEC18C,NS,carcinoma,0,1	CLEC18C	15	1	0			c.G291A						scavenged	.						4	7	6					16																	70211218		1856	3689	5545	SO:0001819	synonymous_variant	283971	exon3			CCTGGCGTCCGGC	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.291G>A	16.37:g.70211218G>A		Somatic	412	2	0.00485437		WXS	Illumina HiSeq	Phase_I	426	10	0.0234742	NM_173619	Q8IUW8	Silent	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	N	4.212	0.038195	0.08148	.	.	ENSG00000157335	ENST00000539438	.	.	.	3.67	-7.35	0.01422	.	.	.	.	.	T	0.29684	0.0741	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	5	0.34782	T	0.22	.	7.4304	0.27124	0.5189:0.3372:0.1439:0.0	.	.	.	.	I	95	.	ENSP00000445424:V95I	V	+	1	0	CLEC18C	68768719	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.589000	0.00422	-2.515000	0.00501	-0.701000	0.03672	GTC	G|0.925;A|0.075	0.075	strong		0.637	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		A	70211218	G	A	70211218	2	1	27	1	0	0	0	0	0	0	0	1	3504	1132	40	1		1	CLEC18C	16	70211218	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	222926	70211218	20143535	455	22143										
MARVELD3	91862	hgsc.bcm.edu	37	chr16	71660310	71660310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gggacggggaccgggacccgGagagagaccaggagagggac	21	9	0	3	rs4788821	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:71660310G>A	ENST00000268485.3	+	1	222	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MARVELD3_ENST00000567566.1_Missense_Mutation_p.E60K|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000565261.1_Missense_Mutation_p.E60K|MARVELD3_ENST00000567501.1_5'Flank|MARVELD3_ENST00000299952.4_Missense_Mutation_p.E60K	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	60	Arg-rich.		E -> K (in dbSNP:rs4788821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCGGGACCCGGAGAGAGACCA	0.731													G|||	2072	0.413738	0.2451	0.5231	5008	,	,		11452	0.7421		0.325	False		,,,				2504	0.317				p.E60K		Atlas-SNP	.											.	MARVELD3	63	.	0			c.G178A						PASS	.	G	LYS/GLU,LYS/GLU	875,2933		104,667,1133	33	51	45		178,178	1.2	0	16	dbSNP_111	45	2199,5223		322,1555,1834	yes	missense,missense	MARVELD3	NM_052858.3,NM_001017967.2	56,56	426,2222,2967	AA,AG,GG		29.6281,22.9779,27.3731	benign,benign	60/402,60/411	71660310	3074,8156	1904	3711	5615	SO:0001583	missense	91862	exon1			GACCCGGAGAGAG	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.178G>A	16.37:g.71660310G>A	ENSP00000268485:p.Glu60Lys	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	200	11	0.055	NM_001017967	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	CCDS10904.1	936	0.42857142857142855	120	0.24390243902439024	164	0.4530386740331492	414	0.7237762237762237	238	0.31398416886543534	G	12.99	2.104181	0.37145	0.229779	0.296281	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.56444	0.46;0.46	2.15	1.17	0.20885	.	3.055740	0.01243	U	0.008678	T	0.00012	0.0000	L	0.34521	1.04	0.09310	P	0.9999999999985243	B;B	0.30889	0.159;0.299	B;B	0.17098	0.017;0.017	T	0.43605	-0.9381	9	0.18276	T	0.48	.	6.0428	0.19744	0.1747:0.0:0.8253:0.0	rs4788821;rs17262334;rs17845037;rs17856380;rs17856423;rs17857810;rs52819161;rs59320056;rs4788821	60;60	Q96A59-2;Q96A59	.;MALD3_HUMAN	K	60	ENSP00000268485:E60K;ENSP00000299952:E60K	ENSP00000268485:E60K	E	+	1	0	MARVELD3	70217811	0.017000	0.18338	0.002000	0.10522	0.013000	0.08279	1.980000	0.40618	0.129000	0.18514	0.298000	0.19748	GAG	G|0.561;A|0.439	0.439	strong		0.731	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		A	71660310	G	A	71660310	3	1	27	1	0	0	0	0	1	0	0	0	9319	1175	41	2	180	2	MARVELD3	16	71660310	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1449092	71660310	18694443	456	22144										
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89348038	89348038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccccggcggtttcttagcagGaatgtccagacccttcttcc	9	15	2	1	rs113527563	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:89348038G>C	ENST00000301030.4	-	9	5372	c.4912C>G	c.(4912-4914)Cct>Gct	p.P1638A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1638A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1638	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1638A(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTAGCAGGAATGTCCAGA	0.562													G|||	527	0.105232	0.034	0.0807	5008	,	,		13862	0.245		0.0129	False		,,,				2504	0.1697				p.P1638A		Atlas-SNP	.											ANKRD11,NS,carcinoma,0,1	ANKRD11	195	1	1	Substitution - Missense(1)	stomach(1)	c.C4912G						scavenged	.	G	ALA/PRO	128,4268	89.2+/-127.9	3,122,2073	95	106	102		4912	1.9	0	16	dbSNP_132	102	36,8564	22.2+/-67.0	0,36,4264	yes	missense	ANKRD11	NM_013275.4	27	3,158,6337	CC,CG,GG		0.4186,2.9117,1.2619	possibly-damaging	1638/2664	89348038	164,12832	2198	4300	6498	SO:0001583	missense	29123	exon9			TAGCAGGAATGTC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4912C>G	16.37:g.89348038G>C	ENSP00000301030:p.Pro1638Ala	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	75	2	0.0266667	NM_001256183	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	176	0.08058608058608059	23	0.046747967479674794	18	0.049723756906077346	122	0.21328671328671328	13	0.017150395778364115	G	5.052	0.195221	0.09599	0.029117	0.004186	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.35789	1.29;1.29	5.07	1.89	0.25635	.	0.256644	0.32901	N	0.005511	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	9	0.28530	T	0.3	.	3.4272	0.07414	0.079:0.2782:0.3568:0.286	.	1638	Q6UB99	ANR11_HUMAN	A	1638	ENSP00000301030:P1638A;ENSP00000367581:P1638A	ENSP00000301030:P1638A	P	-	1	0	ANKRD11	87875539	0.612000	0.27000	0.002000	0.10522	0.001000	0.01503	0.943000	0.29030	0.140000	0.18849	-0.502000	0.04539	CCT	G|0.966;C|0.034	0.034	strong		0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		C	89348038	G	C	89348038	3	2	27	1	0	0	0	0	1	0	0	0	639	1174	41	4	3099	4	ANKRD11	16	89348038	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17687728	89348038	1006715	457	22145										
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89352567	89352567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gttgctctgctgcgggttccCtccgtaccgcagcagcagct	12	15	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:89352567C>T	ENST00000301030.4	-	8	1232	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G258R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	258					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCGGGTTCCCTCCGTACCGC	0.582																																					p.G258R		Atlas-SNP	.											.	ANKRD11	195	.	0			c.G772A						PASS	.						122	121	121					16																	89352567		2198	4300	6498	SO:0001583	missense	29123	exon8			GGTTCCCTCCGTA	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.772G>A	16.37:g.89352567C>T	ENSP00000301030:p.Gly258Arg	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	53	19	0.358491	NM_001256183	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	35	5.557873	0.96514	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.65178	-0.14;-0.14	6.11	6.11	0.99139	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75068	-0.3448	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	258	Q6UB99	ANR11_HUMAN	R	258;258;272	ENSP00000301030:G258R;ENSP00000367581:G258R	ENSP00000301030:G258R	G	-	1	0	ANKRD11	87880068	1.000000	0.71417	0.756000	0.31282	0.773000	0.43773	7.527000	0.81931	2.906000	0.99361	0.655000	0.94253	GGG	.	.	none		0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89352567	C	T	89352567	3	4	27	1	0	0	0	0	1	0	0	0	639	681	24	2	7243	2	ANKRD11	16	89352567	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4529	89352567	1002186	458	22146										
FANCA	2175	hgsc.bcm.edu	37	chr16	89836323	89836323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagggacaggaaggccagcaCcaggtgcaggaggacccaca	15	12	0	0	rs7195066	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:89836323C>T	ENST00000389301.3	-	26	2456	c.2426G>A	c.(2425-2427)gGt>gAt	p.G809D	FANCA_ENST00000567284.2_5'Flank|FANCA_ENST00000568369.1_Missense_Mutation_p.G809D	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	809			G -> D (common polymorphism; dbSNP:rs7195066). {ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAGGCCAGCACCAGGTGCAGG	0.617			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	3339	0.666733	0.7398	0.5821	5008	,	,		17886	0.9881		0.3221	False		,,,				2504	0.6513				p.G809D		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	FANCA,NS,carcinoma,0,1	FANCA	99	1	0			c.G2426A						PASS	.	T	ASP/GLY	2895,1501	476.3+/-357.6	953,989,256	92	68	76		2426	-0.2	0	16	dbSNP_116	76	2702,5898	682.3+/-403.8	438,1826,2036	yes	missense	FANCA	NM_000135.2	94	1391,2815,2292	TT,TC,CC		31.4186,34.1447,43.0671	benign	809/1456	89836323	5597,7399	2198	4300	6498	SO:0001583	missense	2175	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CCAGCACCAGGTG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2426G>A	16.37:g.89836323C>T	ENSP00000373952:p.Gly809Asp	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	103	5	0.0485437	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	1344	0.6153846153846154	348	0.7073170731707317	190	0.5248618784530387	565	0.9877622377622378	241	0.3179419525065963	T	3.507	-0.100499	0.06967	0.658553	0.314186	ENSG00000187741	ENST00000389301	D	0.84442	-1.85	3.13	-0.167	0.13347	.	0.597657	0.15671	N	0.250384	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27054	-1.0085	9	0.18710	T	0.47	-0.0117	2.3692	0.04326	0.1117:0.3478:0.3548:0.1856	rs7195066;rs17233043;rs60022722;rs7195066	809;809	B4DRI7;O15360	.;FANCA_HUMAN	D	809	ENSP00000373952:G809D	ENSP00000373952:G809D	G	-	2	0	FANCA	88363824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.305000	0.19254	-0.200000	0.10300	-1.562000	0.00884	GGT	C|0.485;T|0.515	0.515	strong		0.617	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89836323	C	T	89836323	3	4	27	1	0	0	0	0	1	0	0	0	5662	507	18	2	2013	2	FANCA	16	89836323	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	483756	89836323	518430	459	22147										
FANCA	2175	hgsc.bcm.edu	37	chr16	89866043	89866043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tctctgcagtacatcaaccgTgacctgtcaaaatagaatgt	7	10	3	2	rs7190823	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr16:89866043T>C	ENST00000389301.3	-	9	826	c.796A>G	c.(796-798)Acg>Gcg	p.T266A	FANCA_ENST00000543736.1_Missense_Mutation_p.T234A|FANCA_ENST00000534992.1_Missense_Mutation_p.T266A|FANCA_ENST00000563673.1_Missense_Mutation_p.T266A|FANCA_ENST00000568369.1_Missense_Mutation_p.T266A|FANCA_ENST00000389302.3_Missense_Mutation_p.T266A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	266			T -> A (in dbSNP:rs7190823). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9399890, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACATCAACCGTGACCTGTCAA	0.358			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	3458	0.690495	0.7625	0.6037	5008	,	,		21218	0.9871		0.3956	False		,,,				2504	0.6524				p.T266A		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	FANCA,colon,carcinoma,+1,1	FANCA	99	1	0			c.A796G						scavenged	.	C	ALA/THR,ALA/THR	3190,1206	421.5+/-339.4	1151,888,159	147	127	134		796,796	1.9	0.1	16	dbSNP_116	134	3386,5214	640.8+/-399.6	677,2032,1591	yes	missense,missense	FANCA	NM_000135.2,NM_001018112.1	58,58	1828,2920,1750	CC,CT,TT		39.3721,27.434,49.3998	benign,benign	266/1456,266/298	89866043	6576,6420	2198	4300	6498	SO:0001583	missense	2175	exon9	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CAACCGTGACCTG	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.796A>G	16.37:g.89866043T>C	ENSP00000373952:p.Thr266Ala	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	108	4	0.037037	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	1435	0.657051282051282	370	0.7520325203252033	199	0.5497237569060773	564	0.986013986013986	302	0.39841688654353563	C	0.399	-0.919409	0.02396	0.72566	0.393721	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.1	1.85	0.25348	.	0.674836	0.13063	N	0.416735	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.29397	-1.0013	9	0.02654	T	1	-13.3596	5.1091	0.14800	0.4757:0.4147:0.0:0.1096	rs7190823;rs17232400;rs17669765;rs52833740;rs57464202;rs7190823	266;234;266;266;266;266	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	A	266;266;266;234	ENSP00000373952:T266A;ENSP00000373953:T266A;ENSP00000443675:T266A;ENSP00000443409:T234A	ENSP00000373952:T266A	T	-	1	0	FANCA	88393544	0.007000	0.16637	0.078000	0.20375	0.146000	0.21551	0.402000	0.20965	0.381000	0.24851	-0.222000	0.12452	ACG	T|0.408;C|0.592	0.592	strong		0.358	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89866043	T	C	89866043	3	2	27	1	0	0	0	0	1	0	0	0	5662	1696	59	2	3716	2	FANCA	16	89866043	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	29720	89866043	488710	460	22148										
OR1A2	26189	hgsc.bcm.edu	37	chr17	3101691	3101691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atctatagtctgagaaattgGgatatgaaggcagccctaca	10	7	2	2	rs12150427	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:3101691G>T	ENST00000381951.1	+	1	879	c.879G>T	c.(877-879)tgG>tgT	p.W293C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	293			W -> C (in dbSNP:rs12150427). {ECO:0000269|PubMed:15489334}.		positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W293C(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGAGAAATTGGGATATGAAGG	0.463													G|||	1447	0.288938	0.0598	0.2853	5008	,	,		18238	0.5595		0.3509	False		,,,				2504	0.2587				p.W293C		Atlas-SNP	.											OR1A2,NS,carcinoma,0,1	OR1A2	52	1	1	Substitution - Missense(1)	stomach(1)	c.G879T						PASS	.	G	CYS/TRP	506,3900	232.3+/-245.9	33,440,1730	102	102	102		879	-3	0	17	dbSNP_120	102	3181,5419	476.1+/-369.3	595,1991,1714	yes	missense	OR1A2	NM_012352.1	215	628,2431,3444	TT,TG,GG		36.9884,11.4843,28.3485	benign	293/310	3101691	3687,9319	2203	4300	6503	SO:0001583	missense	26189	exon1			AAATTGGGATATG	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.879G>T	17.37:g.3101691G>T	ENSP00000371377:p.Trp293Cys	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	101	8	0.0792079	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	731	0.3347069597069597	35	0.07113821138211382	119	0.3287292817679558	313	0.5472027972027972	264	0.3482849604221636	G	0.906	-0.720596	0.03182	0.114843	0.369884	ENSG00000172150	ENST00000381951	T	0.37058	1.22	4.0	-3.05	0.05396	.	0.337248	0.21566	N	0.072494	T	0.00012	0.0000	N	0.14661	0.345	0.41321	P	0.012827000000000033	B	0.13145	0.007	B	0.06405	0.002	T	0.45775	-0.9238	9	0.87932	D	0	.	5.0262	0.14385	0.5003:0.0:0.3583:0.1413	rs12150427;rs17822470;rs52823271;rs60260068;rs12150427	293	Q9Y585	OR1A2_HUMAN	C	293	ENSP00000371377:W293C	ENSP00000371377:W293C	W	+	3	0	OR1A2	3048441	0.000000	0.05858	0.020000	0.16555	0.009000	0.06853	-0.330000	0.07925	-0.665000	0.05317	0.543000	0.68304	TGG	G|0.697;N|0.000	.	strong		0.463	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101691	G	T	3101691	3	4	27	1	0	0	0	0	1	0	0	0	10950	1241	43	4	881	4	OR1A2	17	3101691	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		3101691	78093519	461	22149										
OR3A3	8392	hgsc.bcm.edu	37	chr17	3324810	3324810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtgtcagctacttgtggggAagcgatcactgacctgagag	14	8	2	2	rs227787	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:3324810A>G	ENST00000291231.1	+	1	949	c.949A>G	c.(949-951)Aag>Gag	p.K317E		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	317			K -> E (in dbSNP:rs227787). {ECO:0000269|PubMed:10673334, ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACTTGTGGGGAAGCGATCACT	0.468													A|||	1723	0.34405	0.2337	0.4121	5008	,	,		19096	0.3819		0.2445	False		,,,				2504	0.5082				p.K317E		Atlas-SNP	.											.	OR3A3	20	.	0			c.A949G						PASS	.	A	GLU/LYS	1071,3335		137,797,1269	73	74	74		949	2	0	17	dbSNP_79	74	1915,6685		238,1439,2623	yes	missense	OR3A3	NM_012373.2	56	375,2236,3892	GG,GA,AA		22.2674,24.3078,22.9586	benign	317/322	3324810	2986,10020	2203	4300	6503	SO:0001583	missense	8392	exon1			GTGGGGAAGCGAT	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.949A>G	17.37:g.3324810A>G	ENSP00000291231:p.Lys317Glu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	73	4	0.0547945	NM_012373	Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	CCDS11025.1	646	0.2957875457875458	122	0.24796747967479674	125	0.3453038674033149	221	0.38636363636363635	178	0.23482849604221637	.	9.673	1.147227	0.21288	0.243078	0.222674	ENSG00000159961	ENST00000291231	T	0.39406	1.08	3.09	2.01	0.26516	.	.	.	.	.	T	0.00012	0.0000	N	0.25245	0.725	0.80722	P	0.0	B	0.12013	0.005	B	0.14023	0.01	T	0.40534	-0.9558	8	0.59425	D	0.04	.	4.3978	0.11372	0.8427:0.0:0.1573:0.0	rs227787;rs230391;rs391407;rs56498918;rs60332366;rs227787	317	P47888	OR3A3_HUMAN	E	317	ENSP00000291231:K317E	ENSP00000291231:K317E	K	+	1	0	OR3A3	3271560	0.007000	0.16637	0.001000	0.08648	0.021000	0.10359	1.921000	0.40035	1.387000	0.46486	0.533000	0.62120	AAG	G|0.262;N|0.001	0.262	strong		0.468	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			G	3324810	A	G	3324810	3	3	27	1	0	0	0	0	1	0	0	0	11039	247	9	2	951	2	OR3A3	17	3324810	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	223119	3324810	77870400	462	22150										
GSG2	83903	hgsc.bcm.edu	37	chr17	3628212	3628212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccgcattgtgccaaggggaaTagacaggctggagagaacta	14	8	0	2	rs220461	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:3628212T>C	ENST00000325418.4	+	1	1002	c.983T>C	c.(982-984)aTa>aCa	p.I328T	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	328			I -> T (in dbSNP:rs220461). {ECO:0000269|PubMed:11311556, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.		histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CCAAGGGGAATAGACAGGCTG	0.552													T|||	1270	0.253594	0.0219	0.1556	5008	,	,		19545	0.3006		0.3072	False		,,,				2504	0.5327				p.I328T		Atlas-SNP	.											.	GSG2	48	.	0			c.T983C						PASS	.	T	,THR/ILE	309,4097	162.2+/-194.2	17,275,1911	55	51	52		,983	-8.7	0	17	dbSNP_79	52	2743,5857	426.7+/-355.4	435,1873,1992	yes	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,89	452,2148,3903	CC,CT,TT		31.8953,7.0132,23.4661	,benign	,328/799	3628212	3052,9954	2203	4300	6503	SO:0001583	missense	83903	exon1			GGGGAATAGACAG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.983T>C	17.37:g.3628212T>C	ENSP00000325290:p.Ile328Thr	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	50	4	0.08	NM_031965	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	494	0.2261904761904762	15	0.03048780487804878	65	0.17955801104972377	177	0.3094405594405594	237	0.31266490765171506	T	1.096	-0.662582	0.03454	0.070132	0.318953	ENSG00000177602	ENST00000325418	T	0.06933	3.24	4.33	-8.67	0.00863	.	0.902637	0.09044	N	0.856810	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.49688	-0.8913	9	0.87932	D	0	-23.7501	9.806	0.40792	0.1041:0.6357:0.1141:0.1461	rs220461;rs3809807;rs17463403;rs58374758;rs220461	328	Q8TF76	HASP_HUMAN	T	328	ENSP00000325290:I328T	ENSP00000325290:I328T	I	+	2	0	GSG2	3574961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.294000	0.01144	-2.050000	0.00905	-1.064000	0.02280	ATA	T|0.769;C|0.230	0.230	strong		0.552	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		C	3628212	T	C	3628212	3	2	27	1	0	0	0	0	1	0	0	0	6822	1406	49	2	985	2	GSG2	17	3628212	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	303402	3628212	77566998	463	22151										
PLD2	5338	hgsc.bcm.edu	37	chr17	4718776	4718776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccaactcaccaccaggaggaGggtgtccgtgtgtctattct	11	12	3	0	rs1132448	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:4718776G>A	ENST00000263088.6	+	13	1310	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	PLD2_ENST00000572940.1_Silent_p.E393E	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	393					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCAGGAGGAGGGTGTCCGTG	0.542											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3131	0.6252	0.388	0.7435	5008	,	,		21414	0.6349		0.7028	False		,,,				2504	0.772				p.E393E		Atlas-SNP	.											.	PLD2	138	.	0			c.G1179A						PASS	.	G		1962,2444	553.3+/-378.7	429,1104,670	311	277	289		1179	2.5	1	17	dbSNP_86	289	6193,2407	699.9+/-405.1	2251,1691,358	no	coding-synonymous	PLD2	NM_002663.4		2680,2795,1028	AA,AG,GG		27.9884,44.5302,37.2982		393/934	4718776	8155,4851	2203	4300	6503	SO:0001819	synonymous_variant	5338	exon13			GGAGGAGGGTGTC	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1179G>A	17.37:g.4718776G>A		Somatic	106	0	0	621	WXS	Illumina HiSeq	Phase_I	107	5	0.046729	NM_001243108	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																			G|0.370;A|0.630	0.630	strong		0.542	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		A	4718776	G	A	4718776	2	1	27	1	0	0	0	0	0	0	0	1	12046	991	35	2		2	PLD2	17	4718776	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1090564	4718776	76476434	464	22152										
MIS12	79003	hgsc.bcm.edu	37	chr17	5392791	5392791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaggaatcgaaacgactgaaAatatcttaattgctcagtag	8	6	2	1	rs74577983	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:5392791A>G	ENST00000381165.3	+	3	1162	c.609A>G	c.(607-609)aaA>aaG	p.K203K	DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000573759.1_Silent_p.K203K	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AACGACTGAAAATATCTTAAT	0.383													A|||	189	0.0377396	0.0023	0.0245	5008	,	,		20132	0.0982		0.0189	False		,,,				2504	0.0521				p.K203K		Atlas-SNP	.											.	MIS12	19	.	0			c.A609G						PASS	.	A		22,4380		0,22,2179	53	54	54		609	2.6	0.3	17	dbSNP_132	54	227,8369		1,225,4072	no	coding-synonymous	MIS12	NM_024039.1		1,247,6251	GG,GA,AA		2.6408,0.4998,1.9157		203/206	5392791	249,12749	2201	4298	6499	SO:0001819	synonymous_variant	79003	exon2			ACTGAAAATATCT	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"MIS12, MIND kinetochore complex component, homolog (yeast)", "MIS12, MIND kinetochore complex component, homolog (S. pombe)"			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.609A>G	17.37:g.5392791A>G		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	79	4	0.0506329	NM_001258220		Silent	SNP	ENST00000381165.3	37	CCDS11074.1																																																																																			A|0.972;G|0.028	0.028	strong		0.383	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		G	5392791	A	G	5392791	2	3	27	1	0	0	0	0	0	0	0	1	9594	11	1	2		2	MIS12	17	5392791	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	674015	5392791	75802419	465	22153										
XAF1	54739	hgsc.bcm.edu	37	chr17	6663894	6663894	+	Missense_Mutation	SNP	G	G	A													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccagcacagagatgtctgtcGcagtgaacaggcccagctcg					rs386794960|rs2271232	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:6663894G>A	ENST00000361842.3	+	4	634	c.395G>A	c.(394-396)cGc>cAc	p.R132H	XAF1_ENST00000346752.4_Missense_Mutation_p.R113H|XAF1_ENST00000438512.1_Missense_Mutation_p.R132H|XAF1_ENST00000441631.1_Missense_Mutation_p.R132H	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	132			R -> H (in dbSNP:rs2271232).	R -> Q (in Ref. 3; BAF85537). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GATGTCTGTCGCAGTGAACAG	0.592													G|||	670	0.133786	0.2481	0.072	5008	,	,		17101	0.1855		0.0398	False		,,,				2504	0.0665				p.R132H		Atlas-SNP	.											XAF1,colon,carcinoma,+1,1	XAF1	16	1	0			c.G395A						scavenged	.						51	50	50					17																	6663894		2203	4300	6503	SO:0001583	missense	54739	exon4			TCTGTCGCAGTGA	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.395G>A	17.37:g.6663894G>A	ENSP00000354822:p.Arg132His	Somatic	218	2	0.00917431		WXS	Illumina HiSeq	Phase_I	202	7	0.0346535	NM_017523	A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	CCDS11080.1	220	0.10073260073260074	98	0.1991869918699187	17	0.04696132596685083	76	0.13286713286713286	29	0.03825857519788918	G	14.62	2.589297	0.46214	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	3.77	-4.73	0.03259	.	1.042900	0.07588	N	0.921505	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D;D;P;D	0.62365	0.991;0.974;0.956;0.963	P;B;B;B	0.47430	0.547;0.4;0.2;0.301	T	0.05099	-1.0906	9	0.38643	T	0.18	-0.2545	5.9149	0.19050	0.297:0.0:0.5538:0.1493	rs2271232	132;113;132;72	C9J7Z8;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;XAF1_HUMAN;.	H	132;132;113;132	ENSP00000354822:R132H;ENSP00000413199:R132H;ENSP00000341029:R113H;ENSP00000406233:R132H	ENSP00000341029:R113H	R	+	2	0	XAF1	6604618	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.822000	0.01711	-0.958000	0.03622	0.455000	0.32223	CGC	G|0.925;A|0.075	0.075	strong		0.592	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		A	6663894	G	A	6663894	3	1	27	1	0	0	0	0	1	0	0	0	17416	1087	38	1	409	1	XAF1	17	6663894	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1271103	6663894	74531316	466	22154	442	2								
XAF1	54739	hgsc.bcm.edu	37	chr17	6663895	6663895	+	Silent	SNP	C	C	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagcacagagatgtctgtcgCagtgaacaggcccagctcgg					rs2271231|rs386794960	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:6663895C>G	ENST00000361842.3	+	4	635	c.396C>G	c.(394-396)cgC>cgG	p.R132R	XAF1_ENST00000346752.4_Silent_p.R113R|XAF1_ENST00000438512.1_Silent_p.R132R|XAF1_ENST00000441631.1_Silent_p.R132R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	132			R -> H (in dbSNP:rs2271232).	R -> Q (in Ref. 3; BAF85537). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						ATGTCTGTCGCAGTGAACAGG	0.592													G|||	2629	0.52496	0.7383	0.3934	5008	,	,		17143	0.5813		0.3141	False		,,,				2504	0.4888				p.R132R		Atlas-SNP	.											XAF1,colon,carcinoma,+2,1	XAF1	16	1	0			c.C396G						scavenged	.	G	,	2694,1712		958,778,467	51	50	50		396,339	1.8	0	17	dbSNP_100	50	2637,5963		446,1745,2109	no	coding-synonymous,coding-synonymous	XAF1	NM_017523.2,NM_199139.1	,	1404,2523,2576	GG,GC,CC		30.6628,38.8561,40.9888	,	132/302,113/283	6663895	5331,7675	2203	4300	6503	SO:0001819	synonymous_variant	54739	exon4			CTGTCGCAGTGAA	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.396C>G	17.37:g.6663895C>G		Somatic	221	1	0.00452489		WXS	Illumina HiSeq	Phase_I	203	7	0.0344828	NM_017523	A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	CCDS11080.1																																																																																			C|0.550;G|0.450	0.450	strong		0.592	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		G	6663895	C	G	6663895	2	3	27	1	0	0	0	0	0	0	0	1	17416	697	25	4		4	XAF1	17	6663895	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1	6663895	74531315	467	22155	442	2								
DNAH9	1770	hgsc.bcm.edu	37	chr17	11648332	11648332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccccggaggagagaccccaaCttcgaagctttggttaggaa	12	11	0	1	rs3744578	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:11648332C>T	ENST00000262442.4	+	31	6398	c.6330C>T	c.(6328-6330)aaC>aaT	p.N2110N	DNAH9_ENST00000454412.2_Silent_p.N2110N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2110					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGACCCCAACTTCGAAGCTT	0.532													C|||	3857	0.770168	0.5605	0.8386	5008	,	,		19040	0.9345		0.7932	False		,,,				2504	0.8119				p.N2110N		Atlas-SNP	.											.	DNAH9	695	.	0			c.C6330T						PASS	.	C		2698,1708	651.5+/-399.2	832,1034,337	95	98	97		6330	3.4	0.4	17	dbSNP_107	97	6873,1727	736.3+/-407.0	2731,1411,158	no	coding-synonymous	DNAH9	NM_001372.3		3563,2445,495	TT,TC,CC		20.0814,38.7653,26.4109		2110/4487	11648332	9571,3435	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon31			CCCCAACTTCGAA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6330C>T	17.37:g.11648332C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	123	5	0.0406504	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			C|0.256;T|0.744	0.744	strong		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11648332	C	T	11648332	2	4	27	1	0	0	0	0	0	0	0	1	4608	564	20	2		2	DNAH9	17	11648332	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4984437	11648332	69546878	468	22156										
NCOR1	9611	hgsc.bcm.edu	37	chr17	15960883	15960883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacccttgaacctggtctttGatgatggacagactgagcct	11	10	1	5			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:15960883G>T	ENST00000268712.3	-	40	6594	c.6337C>A	c.(6337-6339)Caa>Aaa	p.Q2113K	NCOR1_ENST00000395857.3_Missense_Mutation_p.Q697K|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q2010K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2113	ID1. {ECO:0000250}.|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)	p.Q2113E(1)		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)		CCTGGTCTTTGATGATGGACA	0.418																																					p.Q2113K		Atlas-SNP	.											NCOR1,NS,carcinoma,0,1	NCOR1	240	1	1	Substitution - Missense(1)	breast(1)	c.C6337A						scavenged	.						120	122	121					17																	15960883		2203	4300	6503	SO:0001583	missense	9611	exon40			GTCTTTGATGATG	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.6337C>A	17.37:g.15960883G>T	ENSP00000268712:p.Gln2113Lys	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	158	4	0.0253165	NM_006311	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275602	0.59649	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.44482	0.92;1.49;0.93	6.0	6.0	0.97389	.	0.165937	0.56097	D	0.000031	T	0.31638	0.0803	N	0.08118	0	0.58432	D	0.999998	B;B;B;P;P;B	0.49253	0.082;0.203;0.084;0.921;0.561;0.338	B;B;B;P;B;B	0.49708	0.062;0.064;0.031;0.62;0.267;0.235	T	0.07065	-1.0792	10	0.02654	T	1	-0.8053	19.4831	0.95018	0.0:0.0:1.0:0.0	.	923;2017;2113;2010;633;127	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	K	2113;2010;2017;697	ENSP00000268712:Q2113K;ENSP00000379192:Q2010K;ENSP00000379198:Q697K	ENSP00000268712:Q2113K	Q	-	1	0	NCOR1	15901608	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.147000	0.94646	2.848000	0.98002	0.655000	0.94253	CAA	.	.	none		0.418	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15960883	G	T	15960883	3	4	27	1	0	0	0	0	1	0	0	0	10235	1299	45	4	1013	4	NCOR1	17	15960883	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4312551	15960883	65234327	469	22157										
UBB	7314	hgsc.bcm.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga					rs16962973		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000302182.3_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					p.T90T	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,2	UBB	30	2	0			c.C270T						scavenged	.						75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314	exon2			CATCACCCTGGAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		Somatic	193	1	0.00518135		WXS	Illumina HiSeq	Phase_I	194	3	0.0154639	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			C|0.996;T|0.004	0.004	strong		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285491	C	T	16285491	2	4	27	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	324608	16285491	64909719	470	22158	443	2								
UBB	7314	hgsc.bcm.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					p.E92E	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,bladder,carcinoma,0,6	UBB	30	6	2	Substitution - coding silent(2)	endometrium(1)|central_nervous_system(1)	c.A276G						scavenged	.																																			SO:0001819	synonymous_variant	7314	exon2			CCTGGAAGTGGAG		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G		Somatic	198	2	0.010101		WXS	Illumina HiSeq	Phase_I	196	4	0.0204082	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|1.000;|0.000	1.000	weak		0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		G	16285497	A	G	16285497	2	3	27	1	0	0	0	0	0	0	0	1	16838	69	3	3		3	UBB	17	16285497	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	6	16285497	64909713	471	22159	443	2								
UBB	7314	hgsc.bcm.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000302182.3_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					p.Q107Q	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											UBB,NS,carcinoma,0,1	UBB	30	1	1	Substitution - coding silent(1)	lung(1)	c.G321A						scavenged	.						114	110	112					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314	exon2			GATCCAGGATAAA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A		Somatic	238	1	0.00420168		WXS	Illumina HiSeq	Phase_I	245	4	0.0163265	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																			G|0.540;A|0.460	0.460	strong		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		A	16285542	G	A	16285542	2	1	27	1	0	0	0	0	0	0	0	1	16838	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	45	16285542	64909668	472	22160										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18565350	18565350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atctaaagggtttctctccgGtatgagttctctgatgttga	10	7	3	3	rs9912644	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:18565350G>C	ENST00000545289.1	-	5	1719	c.1469C>G	c.(1468-1470)aCc>aGc	p.T490S	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T490S(2)		endometrium(1)|lung(1)	2						TTTCTCTCCGGTATGAGTTCT	0.393													.|||	1496	0.298722	0.2095	0.4092	5008	,	,		22635	0.3611		0.3827	False		,,,				2504	0.1902				p.T490S		Atlas-SNP	.											ZNF286B,NS,carcinoma,0,1	ZNF286B	75	1	2	Substitution - Missense(2)	endometrium(2)	c.C1469G						scavenged	.						103	101	102					17																	18565350		692	1591	2283	SO:0001583	missense	729288	exon5			TCTCCGGTATGAG		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1469C>G	17.37:g.18565350G>C	ENSP00000461413:p.Thr490Ser	Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	317	8	0.0252366	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			G|0.648;C|0.352	0.352	strong		0.393	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		C	18565350	G	C	18565350	3	2	27	1	0	0	0	0	1	0	0	0	17821	1261	44	4	103	4	ZNF286B	17	18565350	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2279808	18565350	62629860	473	22161										
ZNF286B	729288	hgsc.bcm.edu	37	chr17	18565423	18565423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acactcactacatttgtacgGtttctttccaatatgaattc	4	10	2	1	rs9912852	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:18565423G>A	ENST00000545289.1	-	5	1646	c.1396C>T	c.(1396-1398)Ccg>Tcg	p.P466S	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	466					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(1)|lung(1)	2						CATTTGTACGGTTTCTTTCCA	0.393													.|||	1375	0.274561	0.2027	0.4496	5008	,	,		22033	0.1935		0.4066	False		,,,				2504	0.1953				p.P466S		Atlas-SNP	.											ZNF286B_ENST00000545289,colon,carcinoma,+2,2	ZNF286B	75	2	0			c.C1396T						scavenged	.	G	SER/PRO	333,1051		41,251,400	137	131	133		1396	2.6	1	17	dbSNP_119	133	1243,1939		237,769,585	no	missense	ZNF286B	NM_001145045.1	74	278,1020,985	AA,AG,GG		39.0635,24.0607,34.516	probably-damaging	466/523	18565423	1576,2990	692	1591	2283	SO:0001583	missense	729288	exon5			TGTACGGTTTCTT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1396C>T	17.37:g.18565423G>A	ENSP00000461413:p.Pro466Ser	Somatic	261	1	0.00383142		WXS	Illumina HiSeq	Phase_I	254	6	0.023622	NM_001145045		Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																			G|0.698;A|0.302	0.302	strong		0.393	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		A	18565423	G	A	18565423	3	1	27	1	0	0	0	0	1	0	0	0	17821	1261	44	2	176	2	ZNF286B	17	18565423	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	73	18565423	62629787	474	22162										
SDF2	6388	hgsc.bcm.edu	37	chr17	26976184	26976185	+	Frame_Shift_Del	DEL	AG	AG	-													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gacagcagtacctcagtggaAgagtgtttgaaccgcacctc							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:26976184_26976185delAG	ENST00000247020.4	-	3	756_757	c.458_459delCT	c.(457-459)tctfs	p.S154fs	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	154	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCTCAGTGGAAGAGTGTTTGAA	0.505																																					p.153_154del		Pindel	.											.	SDF2	17	.	0			c.459_460del						PASS	.																																			SO:0001589	frameshift_variant	6388	exon3			.	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.458_459delCT	17.37:g.26976186_26976187delAG	ENSP00000247020:p.Ser154fs	Somatic	84	.	.		WXS	Illumina HiSeq	Phase_I	89	21	0.236	NM_006923	Q9BQ79	Frame_Shift_Del	DEL	ENST00000247020.4	37	CCDS11238.1																																																																																			.	.	none		0.505	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		-	26976185	AG	-	26976184	7	5	27	1	0	1	0	1	0	0	0	0	13960	59	3	0	180	0	SDF2	17	26976184	Frame_Shift_Del	DEL	AG	TCGA-GR-A4D9-01B-11D-A31X-10	8410761	26976184	54219026	475	22163										
MYO18A	399687	hgsc.bcm.edu	37	chr17	27448927	27448927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	catcgtggtccagcttcacaCgcaccttcccctcaggcaag	8	17	2	0	rs201811476	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:27448927C>T	ENST00000527372.1	-	4	1316	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	MYO18A_ENST00000354329.4_Missense_Mutation_p.R379H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R379H|MYO18A_ENST00000533112.1_Missense_Mutation_p.R379H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	379	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				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)			CAGCTTCACACGCACCTTCCC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18179	0.0		0.001	False		,,,				2504	0.0				p.R379H	Esophageal Squamous(182;472 2015 7001 15270 22562)	Atlas-SNP	.											.	MYO18A	217	.	0			c.G1136A						PASS	.	C	HIS/ARG,HIS/ARG	1,4183		0,1,2091	112	113	113		1136,1136	5.6	1	17		113	0,8444		0,0,4222	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	29,29	0,1,6313	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging,probably-damaging	379/2055,379/2040	27448927	1,12627	2092	4222	6314	SO:0001583	missense	399687	exon4			TTCACACGCACCT	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.1136G>A	17.37:g.27448927C>T	ENSP00000437073:p.Arg379His	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	49	17	0.346939	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	21.6	4.171334	0.78452	2.39E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.64	5.64	0.86602	.	0.054581	0.64402	D	0.000001	T	0.69160	0.3080	L	0.46157	1.445	0.37405	D	0.91299	P;D;D;D	0.63046	0.873;0.983;0.983;0.992	B;P;P;P	0.51582	0.26;0.674;0.584;0.477	T	0.74393	-0.3680	10	0.54805	T	0.06	.	7.7622	0.28959	0.0:0.8021:0.0:0.1979	.	48;379;379;379	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	H	379;379;379;379;379;59	ENSP00000346291:R379H;ENSP00000435932:R379H;ENSP00000434228:R379H;ENSP00000437073:R379H	ENSP00000346291:R379H	R	-	2	0	MYO18A	24473053	0.999000	0.42202	0.963000	0.40424	0.991000	0.79684	3.661000	0.54503	2.655000	0.90218	0.655000	0.94253	CGT	C|0.999;T|0.001	0.001	strong		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27448927	C	T	27448927	3	4	27	1	0	0	0	0	1	0	0	0	10065	536	19	1	5184	1	MYO18A	17	27448927	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	472743	27448927	53746283	476	22164										
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274172	39274172	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cagctggggtggcagcaggtGggctggcagcacacagactg	18	10	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:39274172G>T	ENST00000391413.2	-	1	434	c.396C>A	c.(394-396)ccC>ccA	p.P132P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	132	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggcagcaggtgggctggcagc	0.672																																					p.P132P		Atlas-SNP	.											KRTAP4-11,NS,carcinoma,-2,2	KRTAP4-11	94	2	0			c.C396A						scavenged	.						7	12	11					17																	39274172		675	1578	2253	SO:0001819	synonymous_variant	653240	exon1			GCAGGTGGGCTGG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.396C>A	17.37:g.39274172G>T		Somatic	68	1	0.0147059		WXS	Illumina HiSeq	Phase_I	64	3	0.046875	NM_033059	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.	.	none		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274172	G	T	39274172	2	4	27	1	0	0	0	0	0	0	0	1	8549	1335	47	4		4	KRTAP4-11	17	39274172	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	11825245	39274172	41921038	477	22165										
G6PC3	92579	hgsc.bcm.edu	37	chr17	42152103	42152103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gccctctggcccataatgacGgccctgtcttcgcaggtggc	12	15	2	1	rs3815076	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:42152103G>A	ENST00000269097.4	+	3	612	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	127					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCATAATGACGGCCCTGTCTT	0.587													G|||	1352	0.269968	0.0908	0.3213	5008	,	,		18006	0.7093		0.0825	False		,,,				2504	0.2157				p.T127T		Atlas-SNP	.											.	G6PC3	26	.	0			c.G381A						PASS	.	G		469,3937	219.7+/-237.4	28,413,1762	39	38	38		381	-10.1	0.2	17	dbSNP_107	38	641,7959	163.5+/-216.0	27,587,3686	no	coding-synonymous	G6PC3	NM_138387.3		55,1000,5448	AA,AG,GG		7.4535,10.6446,8.5345		127/347	42152103	1110,11896	2203	4300	6503	SO:0001819	synonymous_variant	92579	exon3			AATGACGGCCCTG	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.381G>A	17.37:g.42152103G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	6	0.139535	NM_138387	Q8WU15	Silent	SNP	ENST00000269097.4	37	CCDS11476.1																																																																																			G|0.834;A|0.166	0.166	strong		0.587	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		A	42152103	G	A	42152103	2	1	27	1	0	0	0	0	0	0	0	1	6145	1103	39	1		1	G6PC3	17	42152103	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2877931	42152103	39043107	478	22166										
OSBPL7	114881	hgsc.bcm.edu	37	chr17	45885756	45885756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cactctttcccgctgctatcCgtctgccgcctggtgggaga	11	15	2	1	rs9911983	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:45885756C>T	ENST00000007414.3	-	23	2621	c.2430G>A	c.(2428-2430)acG>acA	p.T810T	OSBPL7_ENST00000392507.3_Silent_p.T810T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	810					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTGCTATCCGTCTGCCGCC	0.627													T|||	2374	0.474042	0.7005	0.4352	5008	,	,		19535	0.1528		0.5298	False		,,,				2504	0.4693				p.T810T		Atlas-SNP	.											OSBPL7,colon,carcinoma,-1,1	OSBPL7	65	1	0			c.G2430A						PASS	.	T		3093,1313	444.5+/-347.4	1094,905,204	61	56	58		2430	-8.4	0.8	17	dbSNP_119	58	4785,3815	538.2+/-383.4	1362,2061,877	no	coding-synonymous	OSBPL7	NM_145798.2		2456,2966,1081	TT,TC,CC		44.3605,29.8003,39.428		810/843	45885756	7878,5128	2203	4300	6503	SO:0001819	synonymous_variant	114881	exon23			GCTATCCGTCTGC	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2430G>A	17.37:g.45885756C>T		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	88	5	0.0568182	NM_145798	D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																			C|0.449;T|0.551	0.551	strong		0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		T	45885756	C	T	45885756	2	4	27	1	0	0	0	0	0	0	0	1	11282	639	23	1		1	OSBPL7	17	45885756	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3733653	45885756	35309454	479	22167										
OR4D1	26689	hgsc.bcm.edu	37	chr17	56233034	56233034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttctgtggccccaatatcCtagataacttctactgtgat	6	12	2	2	rs7218964	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:56233034C>A	ENST00000268912.5	+	1	541	c.520C>A	c.(520-522)Cta>Ata	p.L174I		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	174			L -> I (in dbSNP:rs7218964). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:9119360}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L174I(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCCCAATATCCTAGATAACTT	0.542													C|||	1329	0.265375	0.4539	0.2378	5008	,	,		18842	0.1478		0.1809	False		,,,				2504	0.2382				p.L174I		Atlas-SNP	.											OR4D1,NS,carcinoma,0,1	OR4D1	48	1	1	Substitution - Missense(1)	stomach(1)	c.C520A						scavenged	.	C	ILE/LEU	1783,2623	526.0+/-371.8	365,1053,785	113	110	111		520	5.6	1	17	dbSNP_116	111	1627,6973	301.3+/-305.4	151,1325,2824	yes	missense	OR4D1	NM_012374.1	5	516,2378,3609	AA,AC,CC		18.9186,40.4675,26.2187	probably-damaging	174/311	56233034	3410,9596	2203	4300	6503	SO:0001583	missense	26689	exon1			AATATCCTAGATA	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.520C>A	17.37:g.56233034C>A	ENSP00000365451:p.Leu174Ile	Somatic	98	1	0.0102041		WXS	Illumina HiSeq	Phase_I	86	4	0.0465116	NM_012374	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	508	0.2326007326007326	210	0.4268292682926829	72	0.19889502762430938	83	0.1451048951048951	143	0.18865435356200527	c	8.333	0.827031	0.16749	0.404675	0.189186	ENSG00000141194	ENST00000268912	T	0.00029	8.91	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32314	U	0.006262	T	0.00012	0.0000	N	0.04335	-0.225	0.34968	P	0.24717500000000003	B	0.31581	0.329	P	0.47075	0.536	T	0.04178	-1.0971	9	0.02654	T	1	-10.5232	12.168	0.54141	0.1708:0.8292:0.0:0.0	rs7218964;rs60643647;rs7218964	174	Q15615	OR4D1_HUMAN	I	174	ENSP00000365451:L174I	ENSP00000365451:L174I	L	+	1	2	OR4D1	53588033	0.000000	0.05858	0.984000	0.44739	0.100000	0.18952	-0.453000	0.06778	2.652000	0.90054	0.543000	0.68304	CTA	C|0.768;A|0.232	0.232	strong		0.542	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			A	56233034	C	A	56233034	3	1	27	1	0	0	0	0	1	0	0	0	11053	680	24	4	522	4	OR4D1	17	56233034	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	10347278	56233034	24962176	480	22168										
USP32	84669	hgsc.bcm.edu	37	chr17	58275693	58275693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gggatacttgaatccaaaccGcatcatataggtctttcttc	7	10	3	1	rs202121527		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:58275693G>T	ENST00000300896.4	-	27	3556	c.3362C>A	c.(3361-3363)gCg>gAg	p.A1121E	USP32_ENST00000592339.1_Missense_Mutation_p.A791E	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1121	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A1121V(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATCCAAACCGCATCATATAG	0.488																																					p.A1121E		Atlas-SNP	.											USP32,rectum,carcinoma,0,3	USP32	128	3	1	Substitution - Missense(1)	large_intestine(1)	c.C3362A						scavenged	.						176	157	163					17																	58275693		2203	4300	6503	SO:0001583	missense	84669	exon27			CAAACCGCATCAT	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3362C>A	17.37:g.58275693G>T	ENSP00000300896:p.Ala1121Glu	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	243	3	0.0123457	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348378	0.82132	.	.	ENSG00000170832	ENST00000300896	T	0.45668	0.89	5.15	5.15	0.70609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.43152	1.355	0.80722	D	1	P	0.35242	0.492	B	0.41174	0.349	T	0.16928	-1.0386	10	0.05525	T	0.97	.	18.6199	0.91317	0.0:0.0:1.0:0.0	.	1121	Q8NFA0	UBP32_HUMAN	E	1121	ENSP00000300896:A1121E	ENSP00000300896:A1121E	A	-	2	0	USP32	55630475	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	7.963000	0.87922	2.381000	0.81170	0.561000	0.74099	GCG	G|1.000;A|0.000	.	alt		0.488	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		T	58275693	G	T	58275693	3	4	27	1	0	0	0	0	1	0	0	0	17060	1087	38	4	1484	4	USP32	17	58275693	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2042659	58275693	22919517	481	22169										
MARCH10	162333	hgsc.bcm.edu	37	chr17	60821880	60821880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttcttaataaaaccattggtGcttggtctgctgaaagatgc	9	7	2	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:60821880G>T	ENST00000311269.5	-	5	666	c.392C>A	c.(391-393)gCa>gAa	p.A131E	MARCH10_ENST00000544856.2_Missense_Mutation_p.A130E|MARCH10_ENST00000456609.2_Missense_Mutation_p.A131E|MARCH10_ENST00000583600.1_Missense_Mutation_p.A169E	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	131					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACCATTGGTGCTTGGTCTGC	0.428																																					p.A131E		Atlas-SNP	.											.	MARCH10	102	.	0			c.C392A						PASS	.						93	86	89					17																	60821880		2203	4300	6503	SO:0001583	missense	162333	exon5			ATTGGTGCTTGGT	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.392C>A	17.37:g.60821880G>T	ENSP00000311496:p.Ala131Glu	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	52	14	0.269231	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	1.039	-0.679492	0.03353	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.13089	2.66;2.66;2.62	4.02	-0.384	0.12474	.	1.015540	0.07895	N	0.971731	T	0.08980	0.0222	L	0.35723	1.085	0.09310	N	0.999999	B;B;B	0.18461	0.006;0.01;0.028	B;B;B	0.13407	0.004;0.009;0.009	T	0.42832	-0.9428	10	0.18710	T	0.47	-0.0502	3.2196	0.06711	0.205:0.0:0.4324:0.3626	.	130;130;131	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	E	131;131;130	ENSP00000416177:A131E;ENSP00000311496:A131E;ENSP00000443746:A130E	ENSP00000311496:A131E	A	-	2	0	MARCH10	58175612	0.082000	0.21442	0.050000	0.19076	0.111000	0.19643	0.226000	0.17776	-0.006000	0.14370	0.561000	0.74099	GCA	.	.	none		0.428	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		T	60821880	G	T	60821880	3	4	27	1	0	0	0	0	1	0	0	0	9299	1319	46	4	2062	4	MARCH10	17	60821880	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2546187	60821880	20373330	482	22170										
APOH	350	hgsc.bcm.edu	37	chr17	64210757	64210757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agtggcttttttcacaggtaCtttacaagatgctgaaagag	10	6	1	3	rs4581	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:64210757C>A	ENST00000205948.6	-	7	833	c.796G>T	c.(796-798)Gta>Tta	p.V266L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	266	Sushi-like.		V -> L (in 23% of the population; dbSNP:rs4581). {ECO:0000269|PubMed:8099061, ECO:0000269|Ref.8}.		blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCACAGGTACTTTACAAGAT	0.358													C|||	2712	0.541534	0.5469	0.5403	5008	,	,		19124	0.754		0.2316	False		,,,				2504	0.635				p.V266L	Melanoma(155;624 1882 16869 48804 51309)	Atlas-SNP	.											.	APOH	45	.	0			c.G796T	GRCh37	CM993913	APOH	M	rs4581	PASS	.	C	LEU/VAL	2245,2161	587.0+/-386.6	592,1061,550	101	104	103		796	-4.5	0.4	17	dbSNP_52	103	2043,6557	354.2+/-329.4	232,1579,2489	yes	missense	APOH	NM_000042.2	32	824,2640,3039	AA,AC,CC		23.7558,49.0468,32.9694	benign	266/346	64210757	4288,8718	2203	4300	6503	SO:0001583	missense	350	exon7			CAGGTACTTTACA		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.796G>T	17.37:g.64210757C>A	ENSP00000205948:p.Val266Leu	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	140	6	0.0428571	NM_000042	B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	1035	0.4739010989010989	266	0.540650406504065	166	0.4585635359116022	434	0.7587412587412588	169	0.22295514511873352	c	5.730	0.319109	0.10845	0.509532	0.237558	ENSG00000091583	ENST00000205948	T	0.27720	1.65	5.23	-4.53	0.03462	Complement control module (2);Beta-2-glycoprotein-1 fifth domain (1);	0.357878	0.28322	N	0.015772	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.32161	-0.9917	9	0.08179	T	0.78	.	2.3666	0.04320	0.1613:0.4298:0.1542:0.2548	rs4581;rs1126726;rs1799838;rs3176975;rs3181939;rs17294696;rs17349184;rs52794598;rs56543969;rs60793316;rs3176975	266	P02749	APOH_HUMAN	L	266	ENSP00000205948:V266L	ENSP00000205948:V266L	V	-	1	0	APOH	61641219	0.307000	0.24500	0.356000	0.25785	0.612000	0.37316	-0.386000	0.07370	-0.422000	0.07405	-0.274000	0.10170	GTA	C|0.581;A|0.419	0.419	strong		0.358	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		A	64210757	C	A	64210757	3	1	27	1	0	0	0	0	1	0	0	0	804	565	20	4	249	4	APOH	17	64210757	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3388877	64210757	16984453	483	22171										
CACNG4	27092	hgsc.bcm.edu	37	chr17	65026886	65026886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggtccagctcaaggtccacCgaggcctcgccctccaggga	12	16	1	0	rs11649752	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:65026886C>T	ENST00000262138.3	+	4	752	c.750C>T	c.(748-750)acC>acT	p.T250T	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	250					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAAGGTCCACCGAGGCCTCGC	0.637													C|||	299	0.0597045	0.0045	0.134	5008	,	,		16727	0.0655		0.0795	False		,,,				2504	0.0552				p.T250T		Atlas-SNP	.											.	CACNG4	44	.	0			c.C750T						PASS	.	C		107,4299	82.4+/-120.9	0,107,2096	59	60	60		750	-10	0.9	17	dbSNP_120	60	905,7695	200.7+/-244.4	51,803,3446	no	coding-synonymous	CACNG4	NM_014405.3		51,910,5542	TT,TC,CC		10.5233,2.4285,7.781		250/328	65026886	1012,11994	2203	4300	6503	SO:0001819	synonymous_variant	27092	exon4			GTCCACCGAGGCC	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.750C>T	17.37:g.65026886C>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	93	4	0.0430108	NM_014405	B2RCK0	Silent	SNP	ENST00000262138.3	37	CCDS11667.1																																																																																			C|0.921;T|0.079	0.079	strong		0.637	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		T	65026886	C	T	65026886	2	4	27	1	0	0	0	0	0	0	0	1	2559	639	23	1		1	CACNG4	17	65026886	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	816129	65026886	16168324	484	22172										
EXOC7	23265	hgsc.bcm.edu	37	chr17	74080183	74080183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctggaatagcccaggccttcTggattttgcacagttcttcg	10	11	2	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:74080183T>C	ENST00000335146.7	-	19	2062	c.2009A>G	c.(2008-2010)cAg>cGg	p.Q670R	EXOC7_ENST00000411744.2_Missense_Mutation_p.Q611R|EXOC7_ENST00000607838.1_Missense_Mutation_p.Q642R|EXOC7_ENST00000589210.1_Missense_Mutation_p.Q619R|EXOC7_ENST00000332065.5_Missense_Mutation_p.Q588R|EXOC7_ENST00000467929.2_Missense_Mutation_p.Q591R|EXOC7_ENST00000405575.4_Missense_Mutation_p.Q628R|EXOC7_ENST00000591724.1_5'Flank			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	670					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGGCCTTCTGGATTTTGCA	0.522																																					p.Q670R		Atlas-SNP	.											.	EXOC7	47	.	0			c.A2009G						PASS	.						54	50	51					17																	74080183		2203	4300	6503	SO:0001583	missense	23265	exon19			GCCTTCTGGATTT	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2009A>G	17.37:g.74080183T>C	ENSP00000334100:p.Gln670Arg	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	73	25	0.342466	NM_001145297	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	t	25.0	4.593561	0.86953	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.28	5.28	0.74379	Cullin repeat-like-containing domain (1);	0.136469	0.51477	D	0.000088	T	0.80019	0.4547	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.987;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.932;1.0;1.0;0.983;1.0	T	0.83105	-0.0126	9	0.72032	D	0.01	-24.4938	15.2203	0.73306	0.0:0.0:0.0:1.0	.	611;642;591;556;670;588;619	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	R	588;508;642;670;619;556;611	.	ENSP00000333806:Q588R	Q	-	2	0	EXOC7	71591778	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.843000	0.86859	2.000000	0.58554	0.449000	0.29647	CAG	.	.	none		0.522	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		C	74080183	T	C	74080183	3	2	27	1	0	0	0	0	1	0	0	0	5310	1580	55	3	206	3	EXOC7	17	74080183	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	9053297	74080183	7115027	485	22173										
TNRC6C	57690	hgsc.bcm.edu	37	chr17	76063864	76063864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aatctatgcaagaaggctggGgcagtggtggggatgaaatg	17	4	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:76063864G>A	ENST00000588061.1	+	7	3365	c.2638G>A	c.(2638-2640)Ggc>Agc	p.G880S	RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G877S|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G877S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G880S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G877S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G880S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	880	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGAAGGCTGGGGCAGTGGTGG	0.463																																					p.G880S		Atlas-SNP	.											.	TNRC6C	173	.	0			c.G2638A						PASS	.						127	129	128					17																	76063864		1937	4151	6088	SO:0001583	missense	57690	exon6			GGCTGGGGCAGTG	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2638G>A	17.37:g.76063864G>A	ENSP00000468647:p.Gly880Ser	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	81	4	0.0493827	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459818	0.96240	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.17054	2.3;2.33;2.33;2.3	5.84	5.84	0.93424	Argonaute hook domain (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.07654	-1.0761	10	0.32370	T	0.25	-20.2912	20.1187	0.97949	0.0:0.0:1.0:0.0	.	877;880;880	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	S	880;877;877;880;880;877	ENSP00000336783:G877S;ENSP00000301624:G880S;ENSP00000440310:G880S;ENSP00000442421:G877S	ENSP00000301624:G880S	G	+	1	0	TNRC6C	73575459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.767000	0.95098	0.591000	0.81541	GGC	.	.	none		0.463	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		A	76063864	G	A	76063864	3	1	27	1	0	0	0	0	1	0	0	0	16339	1232	43	2	2648	2	TNRC6C	17	76063864	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1983681	76063864	5131346	486	22174										
AZI1	22994	hgsc.bcm.edu	37	chr17	79173545	79173545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggctgctcgcctggcttggcGtgccttctcctcccgggcct	13	17	1	0			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:79173545G>T	ENST00000269392.4	-	9	1244	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Missense_Mutation_p.R333S|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000450824.2_Missense_Mutation_p.R333S|AZI1_ENST00000374782.3_Missense_Mutation_p.R333S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		333					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGGCTTGGCGTGCCTTCTCC	0.692																																					p.R333S		Atlas-SNP	.											.	AZI1	145	.	0			c.C997A						PASS	.						63	56	58					17																	79173545		2201	4297	6498	SO:0001583	missense	22994	exon9			CTTGGCGTGCCTT																												ENST00000269392.4:c.997C>A	17.37:g.79173545G>T	ENSP00000269392:p.Arg333Ser	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	45	4	0.0888889	NM_014984	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349810	0.61183	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.26518	1.73;1.73;1.73	3.67	3.67	0.42095	.	0.060253	0.64402	D	0.000002	T	0.48732	0.1516	M	0.70275	2.135	0.51012	D	0.999904	D;D;D;D	0.76494	0.997;0.997;0.999;0.969	D;D;D;P	0.68765	0.917;0.917;0.96;0.806	T	0.56329	-0.7997	10	0.72032	D	0.01	-13.0848	15.5205	0.75862	0.0:0.0:1.0:0.0	.	333;333;333;333	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	333	ENSP00000393583:R333S;ENSP00000363914:R333S;ENSP00000269392:R333S	ENSP00000269392:R333S	R	-	1	0	AZI1	76788140	1.000000	0.71417	0.916000	0.36221	0.034000	0.12701	5.139000	0.64801	2.038000	0.60285	0.313000	0.20887	CGC	.	.	none		0.692	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79173545	G	T	79173545	3	4	27	1	0	0	0	0	1	0	0	0	1240	1145	40	4	2317	4	AZI1	17	79173545	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	3109681	79173545	2021665	487	22175										
NPLOC4	55666	hgsc.bcm.edu	37	chr17	79580457	79580457	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttgaagcccggtggaactgaCgtctccatttcagatgaggg	13	9	2	4	rs17852306	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr17:79580457C>A	ENST00000331134.6	-	4	488	c.273G>T	c.(271-273)acG>acT	p.T91T	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000374747.5_Silent_p.T91T	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	91					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGGAACTGACGTCTCCATTT	0.512													C|||	428	0.0854633	0.053	0.0303	5008	,	,		17895	0.2212		0.0437	False		,,,				2504	0.0716				p.T91T		Atlas-SNP	.											.	NPLOC4	27	.	0			c.G273T						PASS	.	C		142,3802		1,140,1831	86	82	83		273	-8.4	0.2	17	dbSNP_123	83	337,7965		7,323,3821	no	coding-synonymous	NPLOC4	NM_017921.2		8,463,5652	AA,AC,CC		4.0593,3.6004,3.9115		91/609	79580457	479,11767	1972	4151	6123	SO:0001819	synonymous_variant	55666	exon4			AACTGACGTCTCC	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.273G>T	17.37:g.79580457C>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	96	7	0.0729167	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	CCDS45812.1																																																																																			C|0.916;A|0.084	0.084	strong		0.512	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			A	79580457	C	A	79580457	2	1	27	1	0	0	0	0	0	0	0	1	10586	523	19	4		4	NPLOC4	17	79580457	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	406912	79580457	1614753	488	22176										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3075746	3075746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aacctctggaattcagcataGgcctcatcgtatgctttaaa	7	10	3	0	rs1143657	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:3075746G>A	ENST00000356443.4	-	35	4995	c.4662C>T	c.(4660-4662)gcC>gcT	p.A1554A	MYOM1_ENST00000400569.3_Silent_p.A1554A|MYOM1_ENST00000261606.7_Silent_p.A1458A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1554					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.A1554A(3)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTCAGCATAGGCCTCATCGT	0.443													G|||	919	0.183506	0.1747	0.183	5008	,	,		18427	0.1875		0.2008	False		,,,				2504	0.1738				p.A1554A		Atlas-SNP	.											MYOM1,NS,carcinoma,0,2	MYOM1	192	2	3	Substitution - coding silent(3)	prostate(2)|stomach(1)	c.C4662T						scavenged	.	G	,	525,3227		38,449,1389	58	58	58		4662,4374	4.2	1	18	dbSNP_123	58	1395,6825		108,1179,2823	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	146,1628,4212	AA,AG,GG		16.9708,13.9925,16.0374	,	1554/1686,1458/1590	3075746	1920,10052	1876	4110	5986	SO:0001819	synonymous_variant	8736	exon35			AGCATAGGCCTCA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4662C>T	18.37:g.3075746G>A		Somatic	90	1	0.0111111		WXS	Illumina HiSeq	Phase_I	90	4	0.0444444	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			G|0.810;A|0.190	0.190	strong		0.443	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3075746	G	A	3075746	2	1	27	1	0	0	0	0	0	0	0	1	10091	987	35	2		2	MYOM1	18	3075746	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		3075746	75001502	489	22177										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3168816	3168816	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attcattgtaaagactcaccGtttctgtaccactggatctc	6	11	4	1	rs2230167	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:3168816G>A	ENST00000356443.4	-	9	1671	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	MYOM1_ENST00000400569.3_Splice_Site_p.N446N|MYOM1_ENST00000261606.7_Splice_Site_p.N446N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	446	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGACTCACCGTTTCTGTACC	0.438													A|||	1413	0.282149	0.3313	0.2061	5008	,	,		18941	0.2798		0.2356	False		,,,				2504	0.32				p.N446N		Atlas-SNP	.											.	MYOM1	192	.	0			c.C1338T						PASS	.	A	,	1167,2591		170,827,882	106	99	101		1338,1338	4.4	1	18	dbSNP_98	101	2179,6049		287,1605,2222	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	MYOM1	NM_003803.3,NM_019856.1	,	457,2432,3104	AA,AG,GG		26.4827,31.0538,27.9159	,	446/1686,446/1590	3168816	3346,8640	1879	4114	5993	SO:0001630	splice_region_variant	8736	exon9			CTCACCGTTTCTG	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1339+1C>T	18.37:g.3168816G>A		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	122	5	0.0409836	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			T|0.125;G|0.436;C|0.285;A|0.154	0.154	strong		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Silent	A	3168816	G	A	3168816	5	1	27	1	0	0	0	0	0	0	1	0	10091	1159	40	1	3839	1	MYOM1	18	3168816	Splice_Site	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	93070	3168816	74908432	490	22178										
MYOM1	8736	hgsc.bcm.edu	37	chr18	3215156	3215156	+	Silent	SNP	C	C	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tagtgactcacggtgctgcgCacgtccttgttgcggtagct					rs386800438|rs1662316	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:3215156C>G	ENST00000356443.4	-	2	399	c.66G>C	c.(64-66)gtG>gtC	p.V22V	MYOM1_ENST00000400569.3_Silent_p.V22V|MYOM1_ENST00000261606.7_Silent_p.V22V|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	22			V -> L (in dbSNP:rs1791085).		muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGTGCTGCGCACGTCCTTGT	0.622													G|||	646	0.128994	0.1346	0.0879	5008	,	,		16440	0.1865		0.0934	False		,,,				2504	0.1278				p.V22V		Atlas-SNP	.											.	MYOM1	192	.	0			c.G66C						PASS	.	G	,	504,3708		30,444,1632	56	60	59		66,66	-11.3	0	18	dbSNP_89	59	728,7756		30,668,3544	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	60,1112,5176	GG,GC,CC		8.5809,11.9658,9.7038	,	22/1686,22/1590	3215156	1232,11464	2106	4242	6348	SO:0001819	synonymous_variant	8736	exon2			GCTGCGCACGTCC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.66G>C	18.37:g.3215156C>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	100	7	0.07	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			C|0.891;G|0.109	0.109	strong		0.622	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3215156	C	G	3215156	2	3	27	1	0	0	0	0	0	0	0	1	10091	697	25	4		4	MYOM1	18	3215156	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	46340	3215156	74862092	491	22179	444	2								
MYOM1	8736	hgsc.bcm.edu	37	chr18	3215158	3215158	+	Missense_Mutation	SNP	C	C	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtgactcacggtgctgcgcaCgtccttgttgcggtagctga					rs386800438|rs1791085	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:3215158C>G	ENST00000356443.4	-	2	397	c.64G>C	c.(64-66)Gtg>Ctg	p.V22L	MYOM1_ENST00000400569.3_Missense_Mutation_p.V22L|MYOM1_ENST00000261606.7_Missense_Mutation_p.V22L|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	22			V -> L (in dbSNP:rs1791085).		muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGCTGCGCACGTCCTTGTTG	0.612													G|||	641	0.127995	0.1339	0.0879	5008	,	,		16535	0.1845		0.0915	False		,,,				2504	0.1278				p.V22L		Atlas-SNP	.											.	MYOM1	192	.	0			c.G64C						PASS	.	G	LEU/VAL,LEU/VAL	501,3711		30,441,1635	56	60	59		64,64	5.7	1	18	dbSNP_89	59	729,7753		30,669,3542	yes	missense,missense	MYOM1	NM_003803.3,NM_019856.1	32,32	60,1110,5177	GG,GC,CC		8.5947,11.8946,9.6896	benign,benign	22/1686,22/1590	3215158	1230,11464	2106	4241	6347	SO:0001583	missense	8736	exon2			TGCGCACGTCCTT	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.64G>C	18.37:g.3215158C>G	ENSP00000348821:p.Val22Leu	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	101	6	0.0594059	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	253	0.11584249084249085	65	0.13211382113821138	29	0.08011049723756906	91	0.1590909090909091	68	0.08970976253298153	G	2.140	-0.397132	0.04899	0.118946	0.085947	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.37235	1.33;1.33;1.21	5.67	5.67	0.87782	.	0.312462	0.30959	N	0.008527	T	0.00039	0.0001	N	0.01874	-0.695	0.58432	P	6.999999999979245E-6	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14896	-1.0456	9	0.02654	T	1	.	9.338	0.38062	0.0761:0.1468:0.7771:0.0	rs1791085;rs1791085	22;22	P52179-2;P52179	.;MYOM1_HUMAN	L	22	ENSP00000348821:V22L;ENSP00000383413:V22L;ENSP00000261606:V22L	ENSP00000261606:V22L	V	-	1	0	MYOM1	3205158	1.000000	0.71417	0.984000	0.44739	0.481000	0.33189	2.152000	0.42272	1.414000	0.47017	-0.120000	0.15030	GTG	C|0.887;G|0.113	0.113	strong		0.612	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3215158	C	G	3215158	3	3	27	1	0	0	0	0	1	0	0	0	10091	536	19	4	5141	4	MYOM1	18	3215158	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2	3215158	74862090	492	22180	444	2								
DLGAP1	9229	hgsc.bcm.edu	37	chr18	3814275	3814275	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tccattcatcttgtggaaccTattcagatagaaaacagata	6	8	3	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:3814275T>A	ENST00000315677.3	-	5	1553		c.e5-2		DLGAP1_ENST00000400149.3_Splice_Site|DLGAP1_ENST00000400145.2_Splice_Site|DLGAP1_ENST00000400155.1_Splice_Site|DLGAP1_ENST00000581527.1_Splice_Site|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000515196.2_Splice_Site|DLGAP1_ENST00000400147.2_Splice_Site|DLGAP1_ENST00000478161.1_Splice_Site|DLGAP1_ENST00000539435.1_Splice_Site|DLGAP1_ENST00000581699.1_Splice_Site|DLGAP1_ENST00000400150.3_Splice_Site|DLGAP1_ENST00000584874.1_Splice_Site|DLGAP1_ENST00000534970.1_Splice_Site	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						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)				TTGTGGAACCTATTCAGATAG	0.338																																					.		Atlas-SNP	.											.	DLGAP1	201	.	0			c.958-2A>T						PASS	.						87	84	85					18																	3814275		2203	4300	6503	SO:0001630	splice_region_variant	9229	exon6			GGAACCTATTCAG	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.958-2A>T	18.37:g.3814275T>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	95	23	0.242105	NM_004746	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Splice_Site	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297901	0.60086	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2416	0.82411	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLGAP1	3804275	1.000000	0.71417	0.959000	0.39883	0.990000	0.78478	7.942000	0.87708	2.229000	0.72834	0.533000	0.62120	.	.	.	none		0.338	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		Intron	A	3814275	T	A	3814275	5	1	27	1	0	0	0	0	0	0	1	0	4559	1536	53	5	2013	5	DLGAP1	18	3814275	Splice_Site	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	599117	3814275	74262973	493	22181										
LAMA3	3909	hgsc.bcm.edu	37	chr18	21394444	21394444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttatattggaatctggacaaAgaaaaccccagtggatgttc	9	7	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:21394444A>C	ENST00000313654.9	+	15	2107	c.1866A>C	c.(1864-1866)aaA>aaC	p.K622N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K622N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	622	Domain V.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATCTGGACAAAGAAAACCCCA	0.363																																					p.K622N		Atlas-SNP	.											.	LAMA3	397	.	0			c.A1866C						PASS	.						140	129	132					18																	21394444		1812	4088	5900	SO:0001583	missense	3909	exon15			GGACAAAGAAAAC	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1866A>C	18.37:g.21394444A>C	ENSP00000324532:p.Lys622Asn	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	139	52	0.374101	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645160	0.29246	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.54071	0.59;0.59	5.64	0.566	0.17317	EGF-like, laminin (3);	.	.	.	.	T	0.42381	0.1200	M	0.72118	2.19	0.80722	D	1	P;P	0.36392	0.551;0.551	B;B	0.31390	0.084;0.129	T	0.21484	-1.0244	9	0.21014	T	0.42	.	6.9004	0.24279	0.6634:0.1273:0.2093:0.0	.	622;622	Q6VU67;Q16787	.;LAMA3_HUMAN	N	622;622;620	ENSP00000324532:K622N;ENSP00000382432:K622N	ENSP00000324532:K622N	K	+	3	2	LAMA3	19648442	0.055000	0.20627	0.862000	0.33874	0.712000	0.41017	0.579000	0.23788	0.432000	0.26286	-0.256000	0.11100	AAA	.	.	none		0.363	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21394444	A	C	21394444	3	2	27	1	0	0	0	0	1	0	0	0	8607	69	3	5	1924	5	LAMA3	18	21394444	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	17580169	21394444	56682804	494	22182										
C18orf34	374864	hgsc.bcm.edu	37	chr18	30804758	30804758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caacagaatgttctttgtcgAgacttctgattctttcagct	7	9	4	3	rs457896|rs113589354|rs386802235	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:30804758A>C	ENST00000383096.3	-	17	1981	c.1799T>G	c.(1798-1800)cTc>cGc	p.L600R	CCDC178_ENST00000406524.2_Missense_Mutation_p.L600R|CCDC178_ENST00000300227.8_Missense_Mutation_p.L600R|CCDC178_ENST00000403303.1_Missense_Mutation_p.L600R|CCDC178_ENST00000579947.1_Missense_Mutation_p.L600R|CCDC178_ENST00000402325.1_Missense_Mutation_p.L600R|CCDC178_ENST00000583930.1_Missense_Mutation_p.L600R|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	600			L -> R (in dbSNP:rs457896).														TTCTTTGTCGAGACTTCTGAT	0.328													A|||	823	0.164337	0.3517	0.1023	5008	,	,		15173	0.1121		0.1093	False		,,,				2504	0.0654				p.L600R		Atlas-SNP	.											C18orf34_ENST00000383096,colon,carcinoma,0,2	.	.	2	0			c.T1799G						scavenged	.	A	ARG/LEU,ARG/LEU	1272,3132		187,898,1117	74	71	72		1799,1799	-4	0	18	dbSNP_80	72	828,7772		39,750,3511	yes	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	102,102	226,1648,4628	CC,CA,AA		9.6279,28.8828,16.1489	probably-damaging,probably-damaging	600/868,600/830	30804758	2100,10904	2202	4300	6502	SO:0001583	missense	374864	exon16			TTGTCGAGACTTC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1799T>G	18.37:g.30804758A>C	ENSP00000372576:p.Leu600Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	91	2	0.021978	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	342	0.1565934065934066	160	0.3252032520325203	36	0.09944751381215469	71	0.12412587412587413	75	0.09894459102902374	A	4.860	0.159803	0.09287	0.288828	0.096279	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.19394	2.25;2.25;2.15;2.25;2.16	4.58	-3.98	0.04082	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	P;P;P;P;P	0.43094	0.799;0.799;0.799;0.799;0.799	B;B;B;B;B	0.39258	0.295;0.295;0.295;0.295;0.295	T	0.38757	-0.9646	8	0.23302	T	0.38	11.9035	7.1837	0.25786	0.3349:0.1641:0.5009:0.0	rs457896;rs59393965;rs457896	600;600;600;600;600	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	R	600	ENSP00000385591:L600R;ENSP00000372576:L600R;ENSP00000300227:L600R;ENSP00000385867:L600R;ENSP00000385234:L600R	ENSP00000300227:L600R	L	-	2	0	C18orf34	29058756	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.025000	0.13577	-0.699000	0.05077	-0.297000	0.09499	CTC	A|0.836;C|0.164	0.164	strong		0.328	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		C	30804758	A	C	30804758	3	2	27	1	0	0	0	0	1	0	0	0	1902	304	11	5	832	5	C18orf34	18	30804758	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	9410314	30804758	47272490	495	22183										
PIK3C3	5289	hgsc.bcm.edu	37	chr18	39617703	39617703	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttaagacggaagatggaggCaaatatccagttatatttaa	9	4	0	2	rs143493401	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:39617703C>A	ENST00000262039.4	+	17	1973	c.1887C>A	c.(1885-1887)ggC>ggA	p.G629G	PIK3C3_ENST00000589056.1_5'Flank|PIK3C3_ENST00000587402.1_5'Flank|PIK3C3_ENST00000398870.3_Silent_p.G566G|PIK3C3_ENST00000593098.1_Silent_p.G114G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	629					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAGATGGAGGCAAATATCCAG	0.333										TSP Lung(28;0.18)			C|||	61	0.0121805	0.0	0.0677	5008	,	,		19118	0.0119		0.0	False		,,,				2504	0.002				p.G629G	NSCLC(37;552 1060 2683 16430 37914)	Atlas-SNP	.											PIK3C3,lower_third,carcinoma,+1,1	PIK3C3	138	1	0			c.C1887A						scavenged	.	C		0,4406		0,0,2203	161	153	156		1887	3.9	1	18	dbSNP_134	156	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PIK3C3	NM_002647.2		0,2,6501	AA,AC,CC		0.0233,0.0,0.0154		629/888	39617703	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5289	exon17			TGGAGGCAAATAT	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1887C>A	18.37:g.39617703C>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	107	4	0.0373832	NM_002647	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																			C|0.994;A|0.006	0.006	strong		0.333	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		A	39617703	C	A	39617703	2	1	27	1	0	0	0	0	0	0	0	1	11912	697	25	4		4	PIK3C3	18	39617703	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	8812945	39617703	38459545	496	22184										
ALPK2	115701	hgsc.bcm.edu	37	chr18	56204489	56204489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aactcacaattgaactataaCtggctggtgtggctgtggtg	12	7	1	1	rs3809975	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:56204489C>G	ENST00000361673.3	-	5	3143	c.2930G>C	c.(2929-2931)aGt>aCt	p.S977T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	977			S -> T (in dbSNP:rs3809975).			nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAACTATAACTGGCTGGTGT	0.463													C|||	302	0.0603035	0.0053	0.1441	5008	,	,		23148	0.119		0.0318	False		,,,				2504	0.044				p.S977T		Atlas-SNP	.											.	ALPK2	487	.	0			c.G2930C						PASS	.	C	THR/SER	32,4374	37.6+/-69.7	0,32,2171	98	96	96		2930	0.2	0	18	dbSNP_107	96	260,8340	101.2+/-162.5	6,248,4046	yes	missense	ALPK2	NM_052947.3	58	6,280,6217	GG,GC,CC		3.0233,0.7263,2.2451	probably-damaging	977/2171	56204489	292,12714	2203	4300	6503	SO:0001583	missense	115701	exon5			CTATAACTGGCTG	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2930G>C	18.37:g.56204489C>G	ENSP00000354991:p.Ser977Thr	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	118	6	0.0508475	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	141	0.06456043956043957	8	0.016260162601626018	43	0.11878453038674033	66	0.11538461538461539	24	0.0316622691292876	C	11.05	1.525298	0.27299	0.007263	0.030233	ENSG00000198796	ENST00000361673	T	0.50548	0.74	5.57	0.184	0.15086	.	2.504700	0.01033	N	0.004167	T	0.00580	0.0019	L	0.42245	1.32	0.80722	P	0.0	B;B	0.16396	0.013;0.017	B;B	0.18263	0.021;0.014	T	0.06215	-1.0839	9	0.38643	T	0.18	-0.0959	2.0327	0.03533	0.2207:0.491:0.1303:0.158	rs3809975;rs52789250;rs3809975	977;977	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	977	ENSP00000354991:S977T	ENSP00000354991:S977T	S	-	2	0	ALPK2	54355469	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.759000	0.04761	0.315000	0.23110	0.591000	0.81541	AGT	C|0.962;G|0.038	0.038	strong		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56204489	C	G	56204489	3	3	27	1	0	0	0	0	1	0	0	0	545	565	20	4	3618	4	ALPK2	18	56204489	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	16586786	56204489	21872759	497	22185										
SERPINB5	5268	hgsc.bcm.edu	37	chr18	61160320	61160320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caaaagaatgtcctttcagaGtcaacaaggtatgtggggca	11	7	2	2	rs2289520	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:61160320G>C	ENST00000382771.4	+	5	851	c.559G>C	c.(559-561)Gtc>Ctc	p.V187L	SERPINB5_ENST00000489441.1_Missense_Mutation_p.V187L|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	187			V -> L (in dbSNP:rs2289520). {ECO:0000269|PubMed:8290962}.		cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCCTTTCAGAGTCAACAAGGT	0.413													G|||	1547	0.308906	0.6316	0.1527	5008	,	,		21022	0.2222		0.0785	False		,,,				2504	0.3098				p.V187L		Atlas-SNP	.											.	SERPINB5	35	.	0			c.G559C						PASS	.	G	LEU/VAL	2380,2026	613.1+/-392.1	647,1086,470	83	81	82		559	0.3	1	18	dbSNP_100	82	564,8036	154.0+/-208.3	20,524,3756	yes	missense	SERPINB5	NM_002639.4	32	667,1610,4226	CC,CG,GG		6.5581,45.9828,22.6357	benign	187/376	61160320	2944,10062	2203	4300	6503	SO:0001583	missense	5268	exon5			TTCAGAGTCAACA	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.559G>C	18.37:g.61160320G>C	ENSP00000372221:p.Val187Leu	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	75	4	0.0533333	NM_002639	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	515	0.2358058608058608	311	0.6321138211382114	42	0.11602209944751381	111	0.19405594405594406	51	0.06728232189973615	G	4.710	0.131937	0.08981	0.540172	0.065581	ENSG00000206075	ENST00000382771	T	0.17370	2.28	6.05	0.338	0.15974	Serpin domain (3);	0.442462	0.22622	N	0.057688	T	0.00012	0.0000	N	0.11845	0.185	0.35936	P	0.16709399999999996	B;B	0.16603	0.006;0.018	B;B	0.14023	0.009;0.01	T	0.39542	-0.9609	9	0.06236	T	0.91	.	9.3317	0.38025	0.5586:0.0:0.4414:0.0	rs2289520;rs17071197;rs52826237;rs60369335;rs2289520	187;187	P36952;P36952-2	SPB5_HUMAN;.	L	187	ENSP00000372221:V187L	ENSP00000372221:V187L	V	+	1	0	SERPINB5	59311300	0.978000	0.34361	0.999000	0.59377	0.985000	0.73830	0.260000	0.18424	0.113000	0.18004	0.655000	0.94253	GTC	G|0.748;C|0.252	0.252	strong		0.413	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		C	61160320	G	C	61160320	3	2	27	1	0	0	0	0	1	0	0	0	14104	1029	36	4	573	4	SERPINB5	18	61160320	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4955831	61160320	16916928	498	22186										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66513615	66513615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tttgtctctgtggaagtggaAgtatgaagaactgaaagaat	12	3	1	4	rs2187094	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:66513615A>G	ENST00000360242.5	+	4	1010	c.893A>G	c.(892-894)aAg>aGg	p.K298R	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.K298R|CCDC102B_ENST00000584156.1_Missense_Mutation_p.K298R|CCDC102B_ENST00000358653.5_Splice_Site_p.E312E	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	298			K -> R (in dbSNP:rs2187094). {ECO:0000269|PubMed:17974005}.					p.K298R(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGGAAGTGGAAGTATGAAGAA	0.358													A|||	1842	0.367812	0.0703	0.4467	5008	,	,		12915	0.6438		0.4006	False		,,,				2504	0.3957				p.K298R		Atlas-SNP	.											CCDC102B,NS,carcinoma,0,2	CCDC102B	92	2	1	Substitution - Missense(1)	stomach(1)	c.A893G						scavenged	.	A	ARG/LYS,ARG/LYS	561,3845	245.3+/-254.3	37,487,1679	70	70	70		893,893	4.4	1	18	dbSNP_96	70	3289,5311	486.0+/-371.8	639,2011,1650	yes	missense,missense	CCDC102B	NM_001093729.1,NM_024781.2	26,26	676,2498,3329	GG,GA,AA		38.2442,12.7326,29.6017	benign,benign	298/514,298/514	66513615	3850,9156	2203	4300	6503	SO:0001583	missense	79839	exon6			AGTGGAAGTATGA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.893A>G	18.37:g.66513615A>G	ENSP00000353377:p.Lys298Arg	Somatic	431	1	0.00232019		WXS	Illumina HiSeq	Phase_I	307	10	0.0325733	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	850	0.3891941391941392	37	0.07520325203252033	156	0.430939226519337	359	0.6276223776223776	298	0.39313984168865435	A	8.901	0.956416	0.18507	0.127326	0.382442	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.15256	2.44;2.44	5.56	4.4	0.53042	.	0.000000	0.64402	D	0.000011	T	0.00012	0.0000	L	0.37697	1.125	0.09310	P	1.0	P	0.47034	0.889	B	0.42827	0.399	T	0.11155	-1.0599	9	0.18710	T	0.47	-26.3717	9.5041	0.39035	0.9196:0.0:0.0804:0.0	rs2187094;rs52829798;rs58141486;rs2187094	298	Q68D86	C102B_HUMAN	R	298	ENSP00000316237:K298R;ENSP00000353377:K298R	ENSP00000316237:K298R	K	+	2	0	CCDC102B	64664595	1.000000	0.71417	0.998000	0.56505	0.313000	0.28021	2.635000	0.46537	1.043000	0.40175	0.528000	0.53228	AAG	A|0.674;G|0.326	0.326	strong		0.358	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		G	66513615	A	G	66513615	3	3	27	1	0	0	0	0	1	0	0	0	2737	72	3	3	903	3	CCDC102B	18	66513615	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	5353295	66513615	11563633	499	22187										
CCDC102B	79839	hgsc.bcm.edu	37	chr18	66564514	66564514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	caagagggaaatacttgaaaGagaaaagcagggactggaga	14	4	0	4	rs117721069	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:66564514G>C	ENST00000360242.5	+	6	1229	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R371T|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R371T|RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R371T	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	371										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATACTTGAAAGAGAAAAGCAG	0.408													C|||	96	0.0191693	0.0023	0.0	5008	,	,		18156	0.0665		0.0139	False		,,,				2504	0.0123				p.R371T		Atlas-SNP	.											.	CCDC102B	92	.	0			c.G1112C						PASS	.	C	THR/ARG,THR/ARG	34,4372	822.3+/-416.4	0,34,2169	112	121	118		1112,1112	1.6	0.2	18	dbSNP_132	118	67,8533	815.5+/-407.0	1,65,4234	yes	missense,missense	CCDC102B	NM_001093729.1,NM_024781.2	71,71	1,99,6403	CC,CG,GG		0.7791,0.7717,0.7766	benign,benign	371/514,371/514	66564514	101,12905	2203	4300	6503	SO:0001583	missense	79839	exon8			TTGAAAGAGAAAA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1112G>C	18.37:g.66564514G>C	ENSP00000353377:p.Arg371Thr	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	104	5	0.0480769	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	51	0.023351648351648352	1	0.0020325203252032522	0	0.0	38	0.06643356643356643	12	0.0158311345646438	C	10.75	1.439360	0.25900	0.007717	0.007791	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.10005	3.43;2.92;3.43	5.43	1.62	0.23740	.	0.429480	0.22448	N	0.059924	T	0.00144	0.0004	N	0.00223	-1.815	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38628	-0.9652	10	0.02654	T	1	-0.0786	2.2253	0.03982	0.1374:0.4998:0.1333:0.2296	.	371;371	Q68D86-3;Q68D86	.;C102B_HUMAN	T	371	ENSP00000316237:R371T;ENSP00000351479:R371T;ENSP00000353377:R371T	ENSP00000316237:R371T	R	+	2	0	CCDC102B	64715494	1.000000	0.71417	0.179000	0.23059	0.984000	0.73092	1.359000	0.34113	0.029000	0.15352	-0.216000	0.12614	AGA	G|0.988;C|0.012	0.012	strong		0.408	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		C	66564514	G	C	66564514	3	2	27	1	0	0	0	0	1	0	0	0	2737	942	33	4	1130	4	CCDC102B	18	66564514	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	50899	66564514	11512734	500	22188										
SOCS6	9306	hgsc.bcm.edu	37	chr18	67992810	67992810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgttgcagagcccgagagcGggtcacgatgatgtccctcc	13	12	1	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr18:67992810G>T	ENST00000397942.3	+	2	1222	c.906G>T	c.(904-906)gcG>gcT	p.A302A	SOCS6_ENST00000582322.1_Silent_p.A302A	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	302					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCCCGAGAGCGGGTCACGATG	0.532																																					p.A302A	Melanoma(84;1024 1361 24382 36583 42651)	Atlas-SNP	.											SOCS6,NS,carcinoma,+2,1	SOCS6	54	1	0			c.G906T						scavenged	.						126	115	119					18																	67992810		2203	4300	6503	SO:0001819	synonymous_variant	9306	exon2			GAGAGCGGGTCAC	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.906G>T	18.37:g.67992810G>T		Somatic	115	1	0.00869565		WXS	Illumina HiSeq	Phase_I	113	3	0.0265487	NM_004232	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																			.	.	none		0.532	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67992810	G	T	67992810	2	4	27	1	0	0	0	0	0	0	0	1	14918	1103	39	4		4	SOCS6	18	67992810	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1428296	67992810	10084438	501	22189										
HCN2	610	hgsc.bcm.edu	37	chr19	603826	603826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atccccgtggactacatcttCcttatcgtggagaagggcat	10	11	1	1	rs56170955	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:603826C>T	ENST00000251287.2	+	2	968	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	305					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		ACTACATCTTCCTTATCGTGG	0.582													c|||	1186	0.236821	0.2368	0.0908	5008	,	,		14018	0.2897		0.0984	False		,,,				2504	0.4284				p.F305F	Melanoma(145;1175 2427 8056 36306)	Atlas-SNP	.											.	HCN2	36	.	0			c.C915T						PASS	.	C		1119,3277		141,837,1220	141	108	119		915	2.8	1	19	dbSNP_129	119	900,7698		50,800,3449	no	coding-synonymous	HCN2	NM_001194.3		191,1637,4669	TT,TC,CC		10.4676,25.455,15.5379		305/890	603826	2019,10975	2198	4299	6497	SO:0001819	synonymous_variant	610	exon2			CATCTTCCTTATC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.915C>T	19.37:g.603826C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	65	5	0.0769231	NM_001194	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																			C|0.835;T|0.165	0.165	strong		0.582	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		T	603826	C	T	603826	2	4	27	1	0	0	0	0	0	0	0	1	6997	854	30	2		2	HCN2	19	603826	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		603826	58525157	502	22190										
POLRMT	5442	hgsc.bcm.edu	37	chr19	619021	619021	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accttggagtccaggcgataGggctggatgacggggacgcc	17	10	0	1	rs14155	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:619021G>C	ENST00000588649.2	-	15	3327	c.3243C>G	c.(3241-3243)ccC>ccG	p.P1081P	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1081	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.P1081P(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		CCAGGCGATAGGGCTGGATGA	0.637													C|||	3117	0.622404	0.7352	0.4006	5008	,	,		13997	0.5823		0.5119	False		,,,				2504	0.7822				p.P1081P		Atlas-SNP	.											POLRMT,colon,carcinoma,0,2	POLRMT	91	2	1	Substitution - coding silent(1)	stomach(1)	c.C3243G						scavenged	.	C		2965,1429		999,967,231	59	50	53		3243	-2.7	1	19	dbSNP_52	53	4220,4378		1005,2210,1084	no	coding-synonymous	POLRMT	NM_005035.3		2004,3177,1315	CC,CG,GG		49.0812,32.5216,44.6967		1081/1231	619021	7185,5807	2197	4299	6496	SO:0001819	synonymous_variant	5442	exon15			GCGATAGGGCTGG		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3243C>G	19.37:g.619021G>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	131	4	0.0305344	NM_005035	O60370	Silent	SNP	ENST00000588649.2	37	CCDS12036.1																																																																																			G|0.442;C|0.558	0.558	strong		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		C	619021	G	C	619021	2	2	27	1	0	0	0	0	0	0	0	1	12238	987	35	4		4	POLRMT	19	619021	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	15195	619021	58509962	503	22191										
C19orf21	126353	hgsc.bcm.edu	37	chr19	757399	757399	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gccgtcatccagggccaggcAgtcaggaagagcagcaccgt	14	13	2	1	rs3746172	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:757399A>C	ENST00000215582.6	+	2	556	c.453A>C	c.(451-453)gcA>gcC	p.A151A		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	151					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGGCCAGGCAGTCAGGAAGA	0.687													A|||	1219	0.243411	0.3601	0.2277	5008	,	,		16778	0.3542		0.1004	False		,,,				2504	0.1299				p.A151A		Atlas-SNP	.											C19orf21,NS,carcinoma,+2,1	C19orf21	56	1	0			c.A453C						PASS	.	A		1278,3112		179,920,1096	33	33	33		453	-7.2	0	19	dbSNP_107	33	831,7759		39,753,3503	no	coding-synonymous	C19orf21	NM_173481.2		218,1673,4599	CC,CA,AA		9.674,29.1116,16.2481		151/680	757399	2109,10871	2195	4295	6490	SO:0001819	synonymous_variant	126353	exon2			CCAGGCAGTCAGG	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.453A>C	19.37:g.757399A>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	5	0.0520833	NM_173481		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			A|0.819;C|0.181	0.181	strong		0.687	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		C	757399	A	C	757399	2	2	27	1	0	0	0	0	0	0	0	1	1913	175	7	5		5	C19orf21	19	757399	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	138378	757399	58371584	504	22192										
SGTA	6449	hgsc.bcm.edu	37	chr19	2767594	2767594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcaccttgcccgtggcagccGcttcaaatatctccggcaga	9	15	3	1	rs367983019		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:2767594G>T	ENST00000221566.2	-	3	352	c.191C>A	c.(190-192)gCg>gAg	p.A64E		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	64					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		CGTGGCAGCCGCTTCAAATAT	0.622																																					p.A64E		Atlas-SNP	.											.	SGTA	19	.	0			c.C191A						PASS	.						42	37	39					19																	2767594		2203	4300	6503	SO:0001583	missense	6449	exon3			GCAGCCGCTTCAA	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.191C>A	19.37:g.2767594G>T	ENSP00000221566:p.Ala64Glu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	82	4	0.0487805	NM_003021	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	1.436	-0.568915	0.03910	.	.	ENSG00000104969	ENST00000221566	T	0.35973	1.28	3.92	3.92	0.45320	.	3.510430	0.04959	U	0.461626	T	0.33469	0.0864	L	0.39245	1.2	0.35474	D	0.797628	B	0.11235	0.004	B	0.13407	0.009	T	0.15780	-1.0425	10	0.11485	T	0.65	-5.3653	13.7696	0.63018	0.0:0.0:1.0:0.0	.	64	O43765	SGTA_HUMAN	E	64	ENSP00000221566:A64E	ENSP00000221566:A64E	A	-	2	0	SGTA	2718594	0.999000	0.42202	0.930000	0.37139	0.102000	0.19082	2.917000	0.48821	1.893000	0.54813	0.491000	0.48974	GCG	.	.	alt		0.622	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		T	2767594	G	T	2767594	3	4	27	1	0	0	0	0	1	0	0	0	14225	1087	38	4	786	4	SGTA	19	2767594	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2010195	2767594	56361389	505	22193										
PTPRS	5802	hgsc.bcm.edu	37	chr19	5222916	5222916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cacggccaccgtgtatttgaCgatggccccgttgcgctcgg	13	14	0	1	rs62113240		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:5222916C>T	ENST00000587303.1	-	17	2986	c.2887G>A	c.(2887-2889)Gtc>Atc	p.V963I	PTPRS_ENST00000348075.2_Missense_Mutation_p.V941I|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.V963I|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V959I|PTPRS_ENST00000372412.4_Missense_Mutation_p.V964I|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.V941I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	963	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTGTATTTGACGATGGCCCCG	0.741																																					p.V963I		Atlas-SNP	.											.	PTPRS	169	.	0			c.G2887A						PASS	.						4	6	6					19																	5222916		1894	3710	5604	SO:0001583	missense	5802	exon18			ATTTGACGATGGC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2887G>A	19.37:g.5222916C>T	ENSP00000467537:p.Val963Ile	Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	19	9	0.473684	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147719	0.21288	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.01	0.642	0.17765	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.320832	0.23319	N	0.049473	T	0.26484	0.0647	N	0.11789	0.175	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.11329	0.002;0.006	T	0.06127	-1.0844	10	0.11794	T	0.64	.	7.107	0.25368	0.0:0.6232:0.0:0.3768	rs62113240	941;963	Q13332-6;Q13332	.;PTPRS_HUMAN	I	964;963;963;954;959;941	ENSP00000361489:V964I;ENSP00000349932:V963I;ENSP00000262963:V959I;ENSP00000269907:V941I	ENSP00000262963:V959I	V	-	1	0	PTPRS	5173916	0.966000	0.33281	0.984000	0.44739	0.983000	0.72400	0.897000	0.28390	0.039000	0.15632	0.557000	0.71058	GTC	.	.	weak		0.741	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			T	5222916	C	T	5222916	3	4	27	1	0	0	0	0	1	0	0	0	12811	536	19	1	3043	1	PTPRS	19	5222916	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2455322	5222916	53906067	506	22194										
TMEM146	257062	hgsc.bcm.edu	37	chr19	5778597	5778597	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtaggagatgcaagacggtCtgccagttcagggcctcagc	14	10	3	2	rs2305926	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:5778597C>G	ENST00000381624.3	+	22	2368	c.2307C>G	c.(2305-2307)gtC>gtG	p.V769V	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	769					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.V769V(1)									GCAAGACGGTCTGCCAGTTCA	0.652													C|||	156	0.0311502	0.0	0.013	5008	,	,		15814	0.0843		0.0179	False		,,,				2504	0.045				p.V769V		Atlas-SNP	.											TMEM146,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	lung(1)	c.C2307G						PASS	.	C		20,4264		0,20,2122	55	63	60		2307	-5.7	0	19	dbSNP_100	60	123,8337		1,121,4108	no	coding-synonymous	TMEM146	NM_152784.3		1,141,6230	GG,GC,CC		1.4539,0.4669,1.1221		769/799	5778597	143,12601	2142	4230	6372	SO:0001819	synonymous_variant	257062	exon22			GACGGTCTGCCAG	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2307C>G	19.37:g.5778597C>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	148	9	0.0608108	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																			C|0.978;G|0.022	0.022	strong		0.652	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		G	5778597	C	G	5778597	2	3	27	1	0	0	0	0	0	0	0	1	16057	900	32	4		4	TMEM146	19	5778597	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	555681	5778597	53350386	507	22195										
FUT6	2528	hgsc.bcm.edu	37	chr19	5832209	5832209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcgctgcccctgccgcctcgGggagcgtgggagctgggcac	17	15	0	0	rs778805	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:5832209G>A	ENST00000318336.4	-	3	1564	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	FUT6_ENST00000527106.1_Missense_Mutation_p.P124S|FUT6_ENST00000592563.1_Missense_Mutation_p.P124S|FUT6_ENST00000524754.1_Missense_Mutation_p.P124S|FUT6_ENST00000286955.5_Missense_Mutation_p.P124S	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	124			P -> S (found in alpha(1,3)- fucosyltransferase-deficient individuals; results in partial enzyme inactivation; complete enzyme inactivation when associated with V-244 and G-303; dbSNP:rs778805). {ECO:0000269|PubMed:11102976, ECO:0000269|Ref.4}.		fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCGCCTCGGGGAGCGTGGG	0.607													G|||	2480	0.495208	0.643	0.4928	5008	,	,		16047	0.6121		0.3131	False		,,,				2504	0.364				p.P124S		Atlas-SNP	.											FUT6,NS,carcinoma,+1,1	FUT6	30	1	0			c.C370T	GRCh37	CM940794	FUT6	M	rs778805	scavenged	.	G	SER/PRO,SER/PRO	2612,1794	638.8+/-397.0	766,1080,357	71	60	64		370,370	2.1	0	19	dbSNP_86	64	2849,5751	447.3+/-361.5	453,1943,1904	yes	missense,missense	FUT6	NM_000150.2,NM_001040701.1	74,74	1219,3023,2261	AA,AG,GG		33.1279,40.7172,41.9883	possibly-damaging,possibly-damaging	124/360,124/360	5832209	5461,7545	2203	4300	6503	SO:0001583	missense	2528	exon3			GCCTCGGGGAGCG		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.370C>T	19.37:g.5832209G>A	ENSP00000313398:p.Pro124Ser	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	106	4	0.0377358	NM_000150	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	1053	0.48214285714285715	319	0.6483739837398373	168	0.46408839779005523	329	0.5751748251748252	237	0.31266490765171506	G	10.20	1.286073	0.23478	0.592828	0.331279	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	3.17	2.11	0.27256	.	0.206719	0.32970	N	0.005421	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B;B	0.19331	0.035;0.006	B;B	0.29440	0.102;0.063	T	0.32295	-0.9912	9	0.41790	T	0.15	.	12.3946	0.55378	0.0:0.0:0.8278:0.1722	rs778805;rs4041472;rs17205925;rs17855738;rs58152597;rs778805	124;124	C9J8A2;P51993	.;FUT6_HUMAN	S	124	ENSP00000431708:P124S;ENSP00000432954:P124S;ENSP00000313398:P124S;ENSP00000286955:P124S;ENSP00000436547:P124S	ENSP00000286955:P124S	P	-	1	0	FUT6	5783209	0.573000	0.26676	0.000000	0.03702	0.000000	0.00434	1.907000	0.39897	0.145000	0.18977	-2.014000	0.00435	CCG	G|0.555;A|0.445	0.445	strong		0.607	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		A	5832209	G	A	5832209	3	1	27	1	0	0	0	0	1	0	0	0	6108	1232	43	2	713	2	FUT6	19	5832209	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	53612	5832209	53296774	508	22196										
MUC16	94025	hgsc.bcm.edu	37	chr19	9012826	9012826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acttcctggagcctgggtgaTgcatgtcctcctcgtactgc	11	13	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:9012826T>C	ENST00000397910.4	-	34	38821	c.38618A>G	c.(38617-38619)cAt>cGt	p.H12873R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12875	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGGTGATGCATGTCCTC	0.587																																					p.H12873R		Atlas-SNP	.											MUC16_ENST00000397910,NS,lymphoid_neoplasm,0,2	MUC16	4315	2	0			c.A38618G						scavenged	.						225	191	202					19																	9012826		2025	4191	6216	SO:0001583	missense	94025	exon34			GGGTGATGCATGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38618A>G	19.37:g.9012826T>C	ENSP00000381008:p.His12873Arg	Somatic	134	1	0.00746269		WXS	Illumina HiSeq	Phase_I	135	5	0.037037	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.961	-0.703220	0.03255	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.28666	1.6	1.74	-3.49	0.04724	.	.	.	.	.	T	0.23094	0.0558	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.04737	-1.0930	7	0.87932	D	0	2.498	9.967	0.41730	0.0:0.6375:0.0:0.3625	.	12873	B5ME49	.	R	12873;26	ENSP00000381008:H12873R	ENSP00000381008:H12873R	H	-	2	0	MUC16	8873826	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.071000	0.00082	-2.450000	0.00543	-2.166000	0.00325	CAT	.	.	none		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9012826	T	C	9012826	3	2	27	1	0	0	0	0	1	0	0	0	9973	1464	51	2	5109	2	MUC16	19	9012826	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	3180617	9012826	50116157	509	22197										
OR7G3	390883	hgsc.bcm.edu	37	chr19	9237435	9237435	+	Silent	SNP	A	A	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgtcgaccaaggacaggatAgagaggaggaagtacatggg					rs386806663|rs10407484	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:9237435A>G	ENST00000305444.2	-	1	191	c.192T>C	c.(190-192)tcT>tcC	p.S64S		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S64S(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGACAGGATAGAGAGGAGGA	0.552													G|||	2249	0.449081	0.8041	0.2421	5008	,	,		20656	0.3651		0.3141	False		,,,				2504	0.3415				p.S64S		Atlas-SNP	.											OR7G3,NS,carcinoma,0,1	OR7G3	41	1	1	Substitution - coding silent(1)	prostate(1)	c.T192C						scavenged	.	G		3080,1326		1167,746,290	128	102	110		192	-2.5	0	19	dbSNP_119	110	2659,5941		386,1887,2027	no	coding-synonymous	OR7G3	NM_001001958.1		1553,2633,2317	GG,GA,AA		30.9186,30.0953,44.1258		64/313	9237435	5739,7267	2203	4300	6503	SO:0001819	synonymous_variant	390883	exon1			CAGGATAGAGAGG		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.192T>C	19.37:g.9237435A>G		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	115	4	0.0347826	NM_001001958	Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																			A|0.566;G|0.434	0.434	strong		0.552	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			G	9237435	A	G	9237435	2	3	27	1	0	0	0	0	0	0	0	1	11224	407	15	3		3	OR7G3	19	9237435	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	224609	9237435	49891548	510	22198	445	2								
OR7G3	390883	hgsc.bcm.edu	37	chr19	9237436	9237436	+	Missense_Mutation	SNP	G	G	A													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgtcgaccaaggacaggataGagaggaggaagtacatgggg					rs61745558|rs386806663	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:9237436G>A	ENST00000305444.2	-	1	190	c.191C>T	c.(190-192)tCt>tTt	p.S64F		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACAGGATAGAGAGGAGGAA	0.547													G|||	165	0.0329473	0.0946	0.0043	5008	,	,		20641	0.0347		0.002	False		,,,				2504	0.0				p.S64F		Atlas-SNP	.											OR7G3,NS,carcinoma,+1,1	OR7G3	41	1	0			c.C191T						scavenged	.						127	101	109					19																	9237436		2203	4300	6503	SO:0001583	missense	390883	exon1			AGGATAGAGAGGA		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.191C>T	19.37:g.9237436G>A	ENSP00000302867:p.Ser64Phe	Somatic	109	2	0.0183486		WXS	Illumina HiSeq	Phase_I	114	4	0.0350877	NM_001001958	Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	CCDS32899.1	62	0.028388278388278388	41	0.08333333333333333	2	0.0055248618784530384	18	0.03146853146853147	1	0.0013192612137203166	G	5.003	0.186238	0.09495	.	.	ENSG00000170920	ENST00000305444	T	0.01106	5.33	4.02	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.186186	0.26187	U	0.025839	T	0.00144	0.0004	M	0.86805	2.84	0.09310	N	0.999999	P	0.36768	0.569	B	0.36567	0.228	T	0.43861	-0.9365	10	0.72032	D	0.01	.	3.2948	0.06963	0.0937:0.3295:0.4071:0.1697	.	64	Q8NG95	OR7G3_HUMAN	F	64	ENSP00000302867:S64F	ENSP00000302867:S64F	S	-	2	0	OR7G3	9098436	0.000000	0.05858	0.477000	0.27303	0.158000	0.22134	-1.394000	0.02518	0.453000	0.26858	-0.230000	0.12252	TCT	G|0.980;A|0.020	0.020	strong		0.547	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9237436	G	A	9237436	3	1	27	1	0	0	0	0	1	0	0	0	11224	942	33	2	750	2	OR7G3	19	9237436	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1	9237436	49891547	511	22199	445	2								
AP1M2	10053	hgsc.bcm.edu	37	chr19	10692000	10692000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agccgcagctctggcattccTgacagaaacaccttgagctt	9	13	1	3	rs1045361	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:10692000T>C	ENST00000250244.6	-	6	697	c.615A>G	c.(613-615)tcA>tcG	p.S205S	AP1M2_ENST00000590923.1_Silent_p.S205S	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	205	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTGGCATTCCTGACAGAAACA	0.557											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	1866	0.372604	0.2557	0.5115	5008	,	,		19255	0.6627		0.1779	False		,,,				2504	0.3333				p.S205S		Atlas-SNP	.											AP1M2,colon,carcinoma,0,1	AP1M2	35	1	0			c.A615G						scavenged	.	T		924,3180		101,722,1229	51	54	53		615	-10.6	0	19	dbSNP_86	53	1683,6737		165,1353,2692	yes	coding-synonymous	AP1M2	NM_005498.4		266,2075,3921	CC,CT,TT		19.9881,22.5146,20.816		205/424	10692000	2607,9917	2052	4210	6262	SO:0001819	synonymous_variant	10053	exon6			CATTCCTGACAGA	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.615A>G	19.37:g.10692000T>C		Somatic	124	0	0	666	WXS	Illumina HiSeq	Phase_I	151	6	0.0397351	NM_005498	B2RDV5|Q9BSI8	Silent	SNP	ENST00000250244.6	37	CCDS45964.1																																																																																			T|0.749;C|0.251	0.251	strong		0.557	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			C	10692000	T	C	10692000	2	2	27	1	0	0	0	0	0	0	0	1	735	1567	55	3		3	AP1M2	19	10692000	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1454564	10692000	48436983	512	22200										
ZNF627	199692	hgsc.bcm.edu	37	chr19	11725413	11725413	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctttgctggatccttcccaGaagaatctctacagggatgt	10	10	1	2	rs12151212	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:11725413G>A	ENST00000361113.5	+	2	283	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF627_ENST00000588174.1_Silent_p.Q25Q	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ATCCTTCCCAGAAGAATCTCT	0.498													G|||	610	0.121805	0.0832	0.1167	5008	,	,		16866	0.0258		0.169	False		,,,				2504	0.228				p.Q25Q	Melanoma(112;173 1614 10731 17751 23322)	Atlas-SNP	.											ZNF627,NS,carcinoma,0,1	ZNF627	43	1	0			c.G75A						PASS	.	G		422,3984	203.8+/-226.2	17,388,1798	107	112	110		75	-0.9	0.5	19	dbSNP_120	110	1689,6911	306.1+/-307.8	164,1361,2775	no	coding-synonymous	ZNF627	NM_145295.3		181,1749,4573	AA,AG,GG		19.6395,9.5778,16.231		25/462	11725413	2111,10895	2203	4300	6503	SO:0001819	synonymous_variant	199692	exon2			TTCCCAGAAGAAT	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.75G>A	19.37:g.11725413G>A		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	107	6	0.0560748	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	37	CCDS42502.1																																																																																			G|0.865;A|0.135	0.135	strong		0.498	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		A	11725413	G	A	11725413	2	1	27	1	0	0	0	0	0	0	0	1	18048	933	33	2		2	ZNF627	19	11725413	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1033413	11725413	47403570	513	22201										
ZNF763	284390	hgsc.bcm.edu	37	chr19	12087921	12087921	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgggctttgctggatatttcGcagaggaaactctacaggga	13	7	1	1	rs376310072	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:12087921G>C	ENST00000358987.3	+	2	199	c.72G>C	c.(70-72)tcG>tcC	p.S24S	ZNF763_ENST00000538752.1_Silent_p.S44S|ZNF763_ENST00000592625.1_Silent_p.S24S|ZNF763_ENST00000591944.1_Silent_p.S93S|ZNF763_ENST00000590798.1_Silent_p.S44S|ZNF763_ENST00000343949.5_Silent_p.S27S|ZNF763_ENST00000545530.1_Intron			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGGATATTTCGCAGAGGAAAC	0.493													N|||	4	0.000798722	0.0023	0.0	5008	,	,		18630	0.0		0.001	False		,,,				2504	0.0				p.S27S		Atlas-SNP	.											ZNF763,NS,carcinoma,+1,2	ZNF763	31	2	0			c.G81C						scavenged	.						150	152	151					19																	12087921		2203	4300	6503	SO:0001819	synonymous_variant	284390	exon2			TATTTCGCAGAGG	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.72G>C	19.37:g.12087921G>C		Somatic	214	5	0.0233645		WXS	Illumina HiSeq	Phase_I	232	15	0.0646552	NM_001012753	B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37																																																																																				.	.	alt		0.493	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		C	12087921	G	C	12087921	2	2	27	1	0	0	0	0	0	0	0	1	18134	1074	38	4		4	ZNF763	19	12087921	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	362508	12087921	47041062	514	22202										
ZNF844	284391	hgsc.bcm.edu	37	chr19	12186857	12186857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaactcacagtgaggagaagGcttatgaatgtaccaaatgt	11	6	1	3	rs6511763	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:12186857G>C	ENST00000439326.3	+	4	1097	c.922G>C	c.(922-924)Gct>Cct	p.A308P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	308			A -> P (in dbSNP:rs6511763).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGAGGAGAAGGCTTATGAATG	0.413													.|||	1455	0.290535	0.73	0.1455	5008	,	,		21988	0.0853		0.161	False		,,,				2504	0.1442				p.A308P		Atlas-SNP	.											.	ZNF844	69	.	0			c.G922C						PASS	.	C	PRO/ALA	887,497		287,313,92	67	64	65		922	1.4	0	19	dbSNP_116	65	416,2766		25,366,1200	yes	missense	ZNF844	NM_001136501.1	27	312,679,1292	CC,CG,GG		13.0735,35.9104,28.537	benign	308/667	12186857	1303,3263	692	1591	2283	SO:0001583	missense	284391	exon4			GAGAAGGCTTATG	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.922G>C	19.37:g.12186857G>C	ENSP00000392024:p.Ala308Pro	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	147	6	0.0408163	NM_001136501	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	572	0.2619047619047619	339	0.6890243902439024	53	0.1464088397790055	53	0.09265734265734266	127	0.16754617414248021	C	1.412	-0.575281	0.03882	0.640896	0.130735	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.10192	2.9	2.5	1.42	0.22433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00047	-2.43	0.26978	P	0.9654259	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	8	0.02654	T	1	.	5.9876	0.19442	0.0:0.6833:0.1951:0.1217	rs6511763;rs52826403;rs60463492;rs6511763	308	Q08AG5	ZN844_HUMAN	P	308;308;283	ENSP00000392024:A308P	ENSP00000392024:A308P	A	+	1	0	ZNF844	12047857	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	0.066000	0.14489	-0.014000	0.14175	-0.980000	0.02579	GCT	G|0.739;C|0.261	0.261	strong		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			C	12186857	G	C	12186857	3	2	27	1	0	0	0	0	1	0	0	0	18187	1203	42	4	936	4	ZNF844	19	12186857	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	98936	12186857	46942126	515	22203										
ZNF799	90576	hgsc.bcm.edu	37	chr19	12501852	12501852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaaatcaataaaggctttccCacatttgcatttatagggtt	7	7	1	0	rs200077318		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:12501852C>T	ENST00000430385.3	-	4	1560	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G422R	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	454					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGGCTTTCCCACATTTGCAT	0.383																																					p.G454R		Atlas-SNP	.											ZNF799_ENST00000430385,head_neck,carcinoma,0,2	ZNF799	111	2	0			c.G1360A						scavenged	.						75	80	78					19																	12501852		2202	4299	6501	SO:0001583	missense	90576	exon4			CTTTCCCACATTT	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1360G>A	19.37:g.12501852C>T	ENSP00000411084:p.Gly454Arg	Somatic	155	4	0.0258065		WXS	Illumina HiSeq	Phase_I	143	9	0.0629371	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033438	0.54896	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.21361	2.01;2.01	1.31	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.86097	2.795	0.31959	N	0.608702	B	0.19200	0.034	B	0.28849	0.095	T	0.34179	-0.9839	9	0.72032	D	0.01	.	5.5527	0.17099	0.0:0.6435:0.0:0.3565	.	454	Q96GE5	ZN799_HUMAN	R	422;454	ENSP00000415278:G422R;ENSP00000411084:G454R	ENSP00000415278:G422R	G	-	1	0	ZNF799	12362852	0.004000	0.15560	0.000000	0.03702	0.966000	0.64601	1.363000	0.34159	-0.271000	0.09272	0.430000	0.28490	GGG	.	.	weak		0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501852	C	T	12501852	3	4	27	1	0	0	0	0	1	0	0	0	18163	594	21	2	575	2	ZNF799	19	12501852	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	314995	12501852	46627131	516	22204										
OR7A10	390892	hgsc.bcm.edu	37	chr19	14951929	14951929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	taaggtacacccctaagcatGtaccataaaataaggagaca	7	9	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:14951929G>T	ENST00000248058.1	-	1	760	c.761C>A	c.(760-762)aCa>aAa	p.T254K		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCCTAAGCATGTACCATAAAA	0.493																																					p.T254K		Atlas-SNP	.											OR7A10,NS,carcinoma,-1,1	OR7A10	33	1	0			c.C761A						PASS	.						103	88	93					19																	14951929		2203	4300	6503	SO:0001583	missense	390892	exon1			AAGCATGTACCAT		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.761C>A	19.37:g.14951929G>T	ENSP00000248058:p.Thr254Lys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	92	30	0.326087	NM_001005190	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	14.39	2.519896	0.44866	.	.	ENSG00000127515	ENST00000248058	T	0.00287	8.29	2.75	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001177	T	0.01092	0.0036	H	0.98754	4.32	0.09310	N	1	D	0.64830	0.994	D	0.68943	0.961	T	0.24657	-1.0154	10	0.87932	D	0	.	9.5406	0.39248	0.0:0.2179:0.7821:0.0	.	254	O76100	OR7AA_HUMAN	K	254	ENSP00000248058:T254K	ENSP00000248058:T254K	T	-	2	0	OR7A10	14812929	0.008000	0.16893	0.001000	0.08648	0.236000	0.25371	1.536000	0.36072	0.499000	0.27970	0.134000	0.15878	ACA	.	.	none		0.493	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14951929	G	T	14951929	3	4	27	1	0	0	0	0	1	0	0	0	11214	1377	48	4	172	4	OR7A10	19	14951929	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2450077	14951929	44177054	517	22205										
CPAMD8	27151	hgsc.bcm.edu	37	chr19	17108135	17108135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcacgcagatgtcgaagtccCgggagccgaggatctggagg	16	10	2	1	rs3745340	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:17108135C>T	ENST00000443236.1	-	11	1053	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.R294Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	294						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTCGAAGTCCCGGGAGCCGAG	0.607													c|||	1649	0.329273	0.1649	0.353	5008	,	,		19240	0.5		0.3976	False		,,,				2504	0.2883				p.R341Q		Atlas-SNP	.											.	CPAMD8	192	.	0			c.G1022A						PASS	.	C	GLN/ARG	795,3235		79,637,1299	13	15	14		1022	-3.8	0.8	19	dbSNP_107	14	3138,5204		619,1900,1652	no	missense	CPAMD8	NM_015692.2	43	698,2537,2951	TT,TC,CC		37.6169,19.727,31.7895	possibly-damaging	341/1933	17108135	3933,8439	2015	4171	6186	SO:0001583	missense	27151	exon11			AAGTCCCGGGAGC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1022G>A	19.37:g.17108135C>T	ENSP00000402505:p.Arg341Gln	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	175	9	0.0514286	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	815|815	0.3731684981684982|0.3731684981684982	87|87	0.17682926829268292|0.17682926829268292	147|147	0.40607734806629836|0.40607734806629836	276|276	0.4825174825174825|0.4825174825174825	305|305	0.4023746701846966|0.4023746701846966	c|c	9.619|9.619	1.133286|1.133286	0.21041|0.21041	0.19727|0.19727	0.376169|0.376169	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.51325	.|0.71;0.72	3.0|3.0	-3.79|-3.79	0.04320|0.04320	.|.	.|0.186387	.|0.32488	.|N	.|0.006027	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00707|0.00707	-1.245|-1.245	0.51767|0.51767	P|P	6.799999999995698E-5|6.799999999995698E-5	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.47315|0.47315	-0.9127|-0.9127	4|9	.|0.25751	.|T	.|0.34	.|.	6.6288|6.6288	0.22845|0.22845	0.0:0.38:0.371:0.2489|0.0:0.38:0.371:0.2489	rs3745340;rs57931423;rs3745340|rs3745340;rs57931423;rs3745340	.|294	.|Q8IZJ3	.|CPMD8_HUMAN	R|Q	352|341;294	.|ENSP00000291440:R341Q;ENSP00000373577:R294Q	.|ENSP00000291440:R341Q	G|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16969135|16969135	0.997000|0.997000	0.39634|0.39634	0.786000|0.786000	0.31890|0.31890	0.743000|0.743000	0.42351|0.42351	2.354000|2.354000	0.44098|0.44098	-0.514000|-0.514000	0.06488|0.06488	-0.417000|-0.417000	0.06048|0.06048	GGG|CGG	C|0.647;T|0.353	0.353	strong		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17108135	C	T	17108135	3	4	27	1	0	0	0	0	1	0	0	0	3795	652	23	1	4904	1	CPAMD8	19	17108135	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2156206	17108135	42020848	518	22206										
ZNF493	284443	hgsc.bcm.edu	37	chr19	21606429	21606429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggagaaaaaccctataaatGtgaagaatgtggcaaagcct	10	6	0	3	rs4621113	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:21606429G>T	ENST00000355504.4	+	2	850	c.584G>T	c.(583-585)tGt>tTt	p.C195F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C323F	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	195			C -> F (in dbSNP:rs4621113). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCCTATAAATGTGAAGAATGT	0.333													.|||	2943	0.58766	0.6589	0.5476	5008	,	,		19736	0.6319		0.5	False		,,,				2504	0.5644				p.C323F		Atlas-SNP	.											.	ZNF493	178	.	0			c.G968T						PASS	.	G	PHE/CYS,PHE/CYS	2757,1641		867,1023,309	32	37	35		968,584	1	0.2	19	dbSNP_111	35	4437,4151		1205,2027,1062	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	205,205	2072,3050,1371	TT,TG,GG		48.3349,37.3124,44.6019	probably-damaging,probably-damaging	323/775,195/647	21606429	7194,5792	2199	4294	6493	SO:0001583	missense	284443	exon4			ATAAATGTGAAGA	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.584G>T	19.37:g.21606429G>T	ENSP00000347691:p.Cys195Phe	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	123	5	0.0406504	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	1284	0.5879120879120879	334	0.6788617886178862	202	0.5580110497237569	378	0.6608391608391608	370	0.48812664907651715	N	5.820	0.335504	0.11013	0.626876	0.516651	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85088	-1.94;-1.94	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	M	0.94101	3.495	0.09310	P	1.0	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46992	-0.9151	8	0.87932	D	0	.	8.7583	0.34658	0.0:0.0:1.0:0.0	rs4621113;rs4621113	195;323	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	323;195	ENSP00000376110:C323F;ENSP00000347691:C195F	ENSP00000347691:C195F	C	+	2	0	ZNF493	21398269	1.000000	0.71417	0.194000	0.23346	0.190000	0.23558	6.598000	0.74122	0.399000	0.25367	0.404000	0.27445	TGT	G|0.458;T|0.542	0.542	strong		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		T	21606429	G	T	21606429	3	4	27	1	0	0	0	0	1	0	0	0	17941	1377	48	4	1045	4	ZNF493	19	21606429	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4498294	21606429	37522554	519	22207										
ZNF100	163227	hgsc.bcm.edu	37	chr19	21948514	21948514	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	accttttcaaaataagactgCaccagaagactcctctcagc	5	13	2	3	rs530281593		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:21948514C>A	ENST00000358296.6	-	2	276	c.78G>T	c.(76-78)gtG>gtT	p.V26V	ZNF100_ENST00000596452.1_5'UTR	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	26					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AATAAGACTGCACCAGAAGAC	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15991	0.0		0.0	False		,,,				2504	0.0				p.V26V		Atlas-SNP	.											.	ZNF100	62	.	0			c.G78T						PASS	.						91	100	97					19																	21948514		2190	4297	6487	SO:0001819	synonymous_variant	163227	exon2			AGACTGCACCAGA	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.78G>T	19.37:g.21948514C>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_173531	Q7M4M0	Silent	SNP	ENST00000358296.6	37	CCDS42538.1																																																																																			.	.	none		0.478	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		A	21948514	C	A	21948514	2	1	27	1	0	0	0	0	0	0	0	1	17710	697	25	4		4	ZNF100	19	21948514	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	342085	21948514	37180469	520	22208										
ZNF566	84924	hgsc.bcm.edu	37	chr19	36940698	36940698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctcaaagtgggcagatcttcAtgagtgaataccaattgatt	9	7	3	4	rs10410711	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:36940698A>G	ENST00000434377.2	-	5	519	c.438T>C	c.(436-438)caT>caC	p.H146H	ZNF566_ENST00000454319.1_Silent_p.H147H|ZNF566_ENST00000424129.2_Silent_p.H146H|ZNF566_ENST00000493391.1_Silent_p.H42H|ZNF566_ENST00000392170.2_Silent_p.H147H	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GCAGATCTTCATGAGTGAATA	0.393													A|||	277	0.0553115	0.0772	0.0259	5008	,	,		18443	0.1151		0.0179	False		,,,				2504	0.0235				p.H147H		Atlas-SNP	.											.	ZNF566	40	.	0			c.T441C						PASS	.	A	,,,	254,4152	145.7+/-180.5	3,248,1952	160	158	159		441,438,438,438	-1.1	0.1	19	dbSNP_119	159	187,8413	84.0+/-146.5	1,185,4114	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF566	NM_001145343.1,NM_001145344.1,NM_001145345.1,NM_032838.4	,,,	4,433,6066	GG,GA,AA		2.1744,5.7649,3.3907	,,,	147/420,146/419,146/419,146/419	36940698	441,12565	2203	4300	6503	SO:0001819	synonymous_variant	84924	exon5			ATCTTCATGAGTG	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.438T>C	19.37:g.36940698A>G		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	179	9	0.0502793	NM_001145343	B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	CCDS12494.1																																																																																			A|0.947;G|0.053	0.053	strong		0.393	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		G	36940698	A	G	36940698	2	3	27	1	0	0	0	0	0	0	0	1	17994	214	8	2		2	ZNF566	19	36940698	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	14992184	36940698	22188285	521	22209										
RYR1	6261	hgsc.bcm.edu	37	chr19	39038962	39038962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agatgatcctcaagttcttcGacatgttcctgaaactcaag	7	10	3	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:39038962G>T	ENST00000359596.3	+	89	12184	c.12184G>T	c.(12184-12186)Gac>Tac	p.D4062Y	RYR1_ENST00000360985.3_Missense_Mutation_p.D4057Y|RYR1_ENST00000355481.4_Missense_Mutation_p.D4057Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4062					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D4062Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAGTTCTTCGACATGTTCCT	0.542																																					p.D4062Y		Atlas-SNP	.											RYR1,NS,carcinoma,0,2	RYR1	708	2	1	Substitution - Missense(1)	pancreas(1)	c.G12184T						scavenged	.						182	136	152					19																	39038962		2203	4300	6503	SO:0001583	missense	6261	exon89			TTCTTCGACATGT	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12184G>T	19.37:g.39038962G>T	ENSP00000352608:p.Asp4062Tyr	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	122	3	0.0245902	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542795	0.45280	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.68903	-0.36;-0.36;-0.36	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	D	0.83464	0.5260	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86817	0.2002	10	0.87932	D	0	.	17.0495	0.86514	0.0:0.0:1.0:0.0	.	4057;4057;4062	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	Y	4062;4057;4057	ENSP00000352608:D4062Y;ENSP00000347667:D4057Y;ENSP00000354254:D4057Y	ENSP00000347667:D4057Y	D	+	1	0	RYR1	43730802	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	9.520000	0.98027	2.441000	0.82636	0.561000	0.74099	GAC	.	.	none		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39038962	G	T	39038962	3	4	27	1	0	0	0	0	1	0	0	0	13768	1058	37	4	12538	4	RYR1	19	39038962	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	2098264	39038962	20090021	522	22210										
CYP2A7	1549	hgsc.bcm.edu	37	chr19	41386136	41386136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cggctcaggaagaaggtgggAtcgatattggcgcctgcggg	18	8	1	1	rs4142867	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:41386136A>C	ENST00000301146.4	-	4	1048	c.507T>G	c.(505-507)gaT>gaG	p.D169E	CYP2A7_ENST00000291764.3_Missense_Mutation_p.D118E|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	169			D -> E (in dbSNP:rs4142867).			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.D169E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAAGGTGGGATCGATATTGG	0.547													.|||	2600	0.519169	0.4251	0.6758	5008	,	,		15007	0.4395		0.5189	False		,,,				2504	0.6176				p.D169E		Atlas-SNP	.											CYP2A7,NS,carcinoma,0,1	CYP2A7	71	1	1	Substitution - Missense(1)	prostate(1)	c.T507G						scavenged	.	A	GLU/ASP,GLU/ASP	1977,2429	557.6+/-379.8	447,1083,673	112	100	104		507,354	-0.2	0.7	19	dbSNP_110	104	4355,4245	580.8+/-391.1	1124,2107,1069	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	45,45	1571,3190,1742	CC,CA,AA		49.3605,44.8706,48.6852	benign,benign	169/495,118/444	41386136	6332,6674	2203	4300	6503	SO:0001583	missense	1549	exon4			GGTGGGATCGATA	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.507T>G	19.37:g.41386136A>C	ENSP00000301146:p.Asp169Glu	Somatic	172	1	0.00581395		WXS	Illumina HiSeq	Phase_I	152	3	0.0197368	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	1113	0.5096153846153846	206	0.4186991869918699	248	0.6850828729281768	268	0.46853146853146854	391	0.5158311345646438	a	11.54	1.669766	0.29693	0.448706	0.506395	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.72505	-0.66;-0.66	2.2	-0.181	0.13291	.	0.176525	0.46758	U	0.000274	T	0.00012	0.0000	M	0.68593	2.085	0.49483	P	2.0699999999995722E-4	B;B;B	0.29862	0.017;0.128;0.259	B;B;B	0.36134	0.014;0.098;0.218	T	0.38520	-0.9657	9	0.59425	D	0.04	.	5.7105	0.17933	0.7168:0.0:0.2832:0.0	rs4142867	169;118;169	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	E	169;118	ENSP00000301146:D169E;ENSP00000291764:D118E	ENSP00000291764:D118E	D	-	3	2	CYP2A7	46077976	0.310000	0.24527	0.715000	0.30552	0.201000	0.24016	-0.547000	0.06055	-0.239000	0.09710	0.157000	0.16456	GAT	A|0.502;C|0.498	0.498	strong		0.547	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		C	41386136	A	C	41386136	3	2	27	1	0	0	0	0	1	0	0	0	4163	330	12	5	1001	5	CYP2A7	19	41386136	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2347174	41386136	17742847	523	22211										
PSG7	5676	hgsc.bcm.edu	37	chr19	43433805	43433805	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtctcaggatcacaggttaaAatcacagcctccgtggcctc	9	13	3	0	rs1065178	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:43433805A>G	ENST00000406070.2	-	0	594				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CACAGGTTAAAATCACAGCCT	0.527													.|||	2229	0.445088	0.5666	0.4294	5008	,	,		18641	0.4216		0.2704	False		,,,				2504	0.4959				p.I44I		Atlas-SNP	.											.	.	.	.	0			c.T132C						PASS	.	G	,	2464,1938		733,998,470	220	217	218		132,498	-2.7	0	19	dbSNP_86	218	2421,6179		400,1621,2279	no	coding-synonymous,coding-synonymous	PSG7	NM_001206650.1,NM_002783.2	,	1133,2619,2749	GG,GA,AA		28.1512,44.0254,37.5711	,	44/298,166/420	43433805	4885,8117	2201	4300	6501			5676	exon2			GGTTAAAATCACA			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433805A>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	115	5	0.0434783	NM_001206650	Q15232	Silent	SNP	ENST00000406070.2	37																																																																																				A|0.622;G|0.378	0.378	strong		0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		G	43433805	A	G	43433805	1	3	27	0	1	0	0	0	0	0	0	0	12660	10	1	2		2	PSG7	19	43433805	RNA	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	2047669	43433805	15695178	524	22212										
PSG11	5680	hgsc.bcm.edu	37	chr19	43519270	43519270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgctgggatccacttaccaAtgactctgattgtcaaggat	9	9	2	2	rs111493043	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:43519270A>G	ENST00000401740.1	-	4	1065	c.962T>C	c.(961-963)aTt>aCt	p.I321T	PSG11_ENST00000403486.1_Missense_Mutation_p.I199T|PSG11_ENST00000320078.7_Missense_Mutation_p.I321T|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000306322.7_Missense_Mutation_p.I199T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	414	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I321T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTTACCAATGACTCTGAT	0.463													.|||	184	0.0367412	0.0287	0.0029	5008	,	,		21410	0.0883		0.0	False		,,,				2504	0.0562				p.I321T		Atlas-SNP	.											PSG11,NS,carcinoma,0,1	PSG11	57	1	1	Substitution - Missense(1)	stomach(1)	c.T962C						scavenged	.	A	THR/ILE,THR/ILE,THR/ILE	140,4258	99.8+/-138.5	10,120,2069	138	132	134		596,962,596	-2	0	19	dbSNP_132	134	16,8580	11.2+/-40.8	0,16,4282	yes	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	89,89,89	10,136,6351	GG,GA,AA		0.1861,3.1833,1.2006	,,	199/214,321/336,199/214	43519270	156,12838	2199	4298	6497	SO:0001583	missense	5680	exon4			TTACCAATGACTC	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.962T>C	19.37:g.43519270A>G	ENSP00000384995:p.Ile321Thr	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	148	5	0.0337838	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	68	0.031135531135531136	18	0.036585365853658534	0	0.0	50	0.08741258741258741	0	0.0	a	0.012	-1.679652	0.00751	0.031833	0.001861	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	0.976	-1.95	0.07548	Immunoglobulin-like fold (1);	.	.	.	.	T	0.01558	0.0050	N	0.02539	-0.55	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.15484	0.012;0.013	T	0.02020	-1.1228	9	0.29301	T	0.29	.	2.7499	0.05277	0.2605:0.0:0.4834:0.2561	.	199;321	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	T	321;199;199;321	ENSP00000319140:I321T;ENSP00000385427:I199T;ENSP00000304913:I199T;ENSP00000384995:I321T	ENSP00000304913:I199T	I	-	2	0	PSG11	48211110	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	-1.447000	0.02396	-1.624000	0.01556	-1.386000	0.01163	ATT	A|0.982;G|0.018	0.018	strong		0.463	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		G	43519270	A	G	43519270	3	3	27	1	0	0	0	0	1	0	0	0	12654	101	4	2	53	2	PSG11	19	43519270	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	85465	43519270	15609713	525	22213										
PSG11	5680	hgsc.bcm.edu	37	chr19	43519362	43519362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccattatgctttggagtaatCtgagggataaagagcttttg	11	5	1	2	rs11083680	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:43519362C>T	ENST00000401740.1	-	4	973	c.870G>A	c.(868-870)caG>caA	p.Q290Q	PSG11_ENST00000403486.1_Silent_p.Q168Q|PSG11_ENST00000320078.7_Silent_p.Q290Q|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000306322.7_Silent_p.Q168Q			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	299	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGAGTAATCTGAGGGATAA	0.458													.|||	3243	0.647564	0.6551	0.4986	5008	,	,		20620	0.9871		0.4751	False		,,,				2504	0.5706				p.Q290Q		Atlas-SNP	.											PSG11,right_lower_lobe,carcinoma,-2,1	PSG11	57	1	0			c.G870A						PASS	.	T	,,	2884,1514	479.9+/-358.7	986,912,301	163	162	162		504,870,504	-0.8	0	19	dbSNP_120	162	3875,4719	606.8+/-395.2	915,2045,1337	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	1901,2957,1638	TT,TC,CC		45.0896,34.4247,47.9757	,,	168/214,290/336,168/214	43519362	6759,6233	2199	4297	6496	SO:0001819	synonymous_variant	5680	exon4			AGTAATCTGAGGG	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.870G>A	19.37:g.43519362C>T		Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	191	11	0.0575916	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																			C|0.424;T|0.576	0.576	strong		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43519362	C	T	43519362	2	4	27	1	0	0	0	0	0	0	0	1	12654	912	32	2		2	PSG11	19	43519362	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	92	43519362	15609621	526	22214										
ZNF234	10780	hgsc.bcm.edu	37	chr19	44652954	44652954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccttcaaggatgtggctgtgGtcttcactgaggaggagctg	15	8	3	1	rs2293587	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:44652954G>A	ENST00000426739.2	+	4	304	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	ZNF234_ENST00000590748.1_3'UTR|ZNF234_ENST00000592437.1_Missense_Mutation_p.V16I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		V -> I (in dbSNP:rs2293587).		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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TGTGGCTGTGGTCTTCACTGA	0.483													G|||	1614	0.322284	0.2988	0.2767	5008	,	,		18565	0.4008		0.3121	False		,,,				2504	0.316				p.V16I		Atlas-SNP	.											.	ZNF234	132	.	0			c.G46A						PASS	.	G	ILE/VAL,ILE/VAL	1228,3178	424.5+/-340.5	176,876,1151	209	210	210		46,46	-1.1	0.9	19	dbSNP_100	210	3029,5571	467.2+/-367.0	563,1903,1834	yes	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	739,2779,2985	AA,AG,GG		35.2209,27.8711,32.731	benign,benign	16/701,16/701	44652954	4257,8749	2203	4300	6503	SO:0001583	missense	10780	exon4			GCTGTGGTCTTCA	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.46G>A	19.37:g.44652954G>A	ENSP00000400878:p.Val16Ile	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	191	8	0.0418848	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	720	0.32967032967032966	146	0.2967479674796748	113	0.31215469613259667	228	0.3986013986013986	233	0.3073878627968338	G	11.40	1.628303	0.28978	0.278711	0.352209	ENSG00000167380	ENST00000426739	T	0.01725	4.67	3.85	-1.13	0.09775	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	L	0.38175	1.15	0.48696	P	3.0799999999997496E-4	B	0.27625	0.183	B	0.28916	0.096	T	0.36744	-0.9735	8	0.35671	T	0.21	.	5.0799	0.14651	0.2585:0.0:0.6053:0.1362	rs2293587;rs2293587	16	Q14588	ZN234_HUMAN	I	16	ENSP00000400878:V16I	ENSP00000400878:V16I	V	+	1	0	ZNF226	49344794	0.772000	0.28567	0.895000	0.35142	0.967000	0.64934	0.782000	0.26788	-0.212000	0.10109	0.561000	0.74099	GTC	G|0.660;A|0.340	0.340	strong		0.483	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			A	44652954	G	A	44652954	3	1	27	1	0	0	0	0	1	0	0	0	17784	1261	44	2	52	2	ZNF234	19	44652954	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1133592	44652954	14476029	527	22215										
SYMPK	8189	hgsc.bcm.edu	37	chr19	46330809	46330809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaggtcgaggaggacatgcaGgtactggaactggcgggacg	19	7	0	0	rs35490979	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:46330809G>A	ENST00000245934.7	-	16	2384	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	714					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)		AGGACATGCAGGTACTGGAAC	0.602													G|||	551	0.110024	0.0772	0.0331	5008	,	,		18904	0.3512		0.0358	False		,,,				2504	0.0368				p.L714L		Atlas-SNP	.											.	SYMPK	104	.	0			c.C2140T						PASS	.	G		261,4145	148.8+/-183.1	6,249,1948	122	90	101		2140	2.8	1	19	dbSNP_126	101	277,8323	104.8+/-165.8	5,267,4028	no	coding-synonymous	SYMPK	NM_004819.2		11,516,5976	AA,AG,GG		3.2209,5.9237,4.1366		714/1275	46330809	538,12468	2203	4300	6503	SO:0001819	synonymous_variant	8189	exon16			CATGCAGGTACTG	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.2140C>T	19.37:g.46330809G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	106	5	0.0471698	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2	293	0.13415750915750915	34	0.06910569105691057	14	0.03867403314917127	222	0.3881118881118881	23	0.030343007915567283	G	10.07	1.248643	0.22880	0.059237	0.032209	ENSG00000125755	ENST00000340643	.	.	.	4.93	2.78	0.32641	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.41538	-0.9503	3	.	.	.	.	9.4228	0.38561	0.1745:0.0:0.8255:0.0	rs35490979	.	.	.	L	145	.	.	P	-	2	0	SYMPK	51022649	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.448000	0.52943	0.681000	0.31386	0.650000	0.86243	CCT	G|0.931;A|0.069	0.069	strong		0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		A	46330809	G	A	46330809	2	1	27	1	0	0	0	0	0	0	0	1	15436	991	35	2		2	SYMPK	19	46330809	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1677855	46330809	12798174	528	22216										
ZNF614	80110	hgsc.bcm.edu	37	chr19	52519608	52519608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	atgagttcgctgatgtataaCgagagtgcgtttgacagtga	13	5	0	5	rs8104890	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:52519608C>T	ENST00000270649.6	-	5	1787	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	415			V -> I (in dbSNP:rs8104890).		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(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGATGTATAACGAGAGTGCGT	0.428													T|||	2020	0.403355	0.3797	0.3444	5008	,	,		23869	0.4038		0.2773	False		,,,				2504	0.6063				p.V415I		Atlas-SNP	.											.	ZNF614	58	.	0			c.G1243A						PASS	.	T	ILE/VAL	1675,2731	655.4+/-399.9	320,1035,848	173	169	170		1243	-0.1	0	19	dbSNP_116	170	2291,6309	705.9+/-405.5	295,1701,2304	yes	missense	ZNF614	NM_025040.3	29	615,2736,3152	TT,TC,CC		26.6395,38.0163,30.4936	benign	415/586	52519608	3966,9040	2203	4300	6503	SO:0001583	missense	80110	exon5			GTATAACGAGAGT	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1243G>A	19.37:g.52519608C>T	ENSP00000270649:p.Val415Ile	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	89	4	0.0449438	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	742	0.33974358974358976	199	0.40447154471544716	119	0.3287292817679558	206	0.36013986013986016	218	0.287598944591029	T	0.148	-1.094924	0.01858	0.380163	0.266395	ENSG00000142556	ENST00000270649	T	0.07567	3.18	3.5	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.16478	0.41	0.80722	P	0.0	B	0.11235	0.004	B	0.06405	0.002	T	0.45833	-0.9234	8	0.02654	T	1	.	4.0797	0.09921	0.1457:0.2773:0.0:0.577	rs8104890;rs17743253;rs52816123;rs60685404;rs8104890	415	Q8N883	ZN614_HUMAN	I	415	ENSP00000270649:V415I	ENSP00000270649:V415I	V	-	1	0	ZNF614	57211420	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-1.520000	0.02241	-0.247000	0.09597	-1.216000	0.01612	GTT	C|0.666;T|0.334	0.334	strong		0.428	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		T	52519608	C	T	52519608	3	4	27	1	0	0	0	0	1	0	0	0	18036	536	19	1	518	1	ZNF614	19	52519608	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	6188799	52519608	6609375	529	22217										
VN1R2	317701	hgsc.bcm.edu	37	chr19	53761881	53761881	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctgcacacggagagaaacccAccaaacctgtggggctggac	12	13	0	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:53761881A>C	ENST00000341702.3	+	1	337	c.253A>C	c.(253-255)Acc>Ccc	p.T85P		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	85					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		agagaaacccaccaaacctgt	0.443																																					p.T85P		Atlas-SNP	.											.	VN1R2	71	.	0			c.A253C						PASS	.						43	44	44					19																	53761881		2193	4285	6478	SO:0001583	missense	317701	exon1			AAACCCACCAAAC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.253A>C	19.37:g.53761881A>C	ENSP00000351244:p.Thr85Pro	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	114	35	0.307018	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	3.624	-0.076953	0.07184	.	.	ENSG00000196131	ENST00000341702	T	0.10005	2.92	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.62326	D	0.03	.	2.1718	0.03851	0.506:2.0E-4:1.0E-4:0.4937	.	85	Q8NFZ6	VN1R2_HUMAN	P	85	ENSP00000351244:T85P	ENSP00000351244:T85P	T	+	1	0	VN1R2	58453693	0.001000	0.12720	0.042000	0.18584	0.043000	0.13939	-0.066000	0.11598	0.115000	0.18071	0.113000	0.15668	ACC	.	.	none		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		C	53761881	A	C	53761881	3	2	27	1	0	0	0	0	1	0	0	0	17176	159	6	5	255	5	VN1R2	19	53761881	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	1242273	53761881	5367102	530	22218										
ZNF813	126017	hgsc.bcm.edu	37	chr19	53993764	53993764	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctttcaggaaattgataaagAtattcataacttagagtttc	6	5	2	3	rs12609217	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:53993764A>T	ENST00000396403.4	+	4	406	c.278A>T	c.(277-279)gAt>gTt	p.D93V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATTGATAAAGATATTCATAAC	0.398													a|||	301	0.0601038	0.0	0.0634	5008	,	,		20095	0.2401		0.003	False		,,,				2504	0.0123				p.D93V		Atlas-SNP	.											ZNF813_ENST00000396403,NS,carcinoma,+1,1	ZNF813	81	1	0			c.A278T						scavenged	.	A	VAL/ASP	8,4384	12.9+/-30.5	0,8,2188	91	97	95		278	0.5	0	19	dbSNP_120	95	8,8588	7.1+/-27.0	0,8,4290	yes	missense	ZNF813	NM_001004301.3	152	0,16,6478	TT,TA,AA		0.0931,0.1821,0.1232	probably-damaging	93/618	53993764	16,12972	2196	4298	6494	SO:0001583	missense	126017	exon4			ATAAAGATATTCA	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.278A>T	19.37:g.53993764A>T	ENSP00000379684:p.Asp93Val	Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	303	6	0.019802	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	149	0.06822344322344322	0	0.0	13	0.03591160220994475	133	0.23251748251748253	3	0.00395778364116095	A	10.25	1.299475	0.23650	0.001821	9.31E-4	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05786	3.94;3.39;5.03	0.467	0.467	0.16721	.	.	.	.	.	T	0.00012	0.0000	L	0.38838	1.175	0.80722	P	0.0	D	0.63046	0.992	D	0.68039	0.955	T	0.45659	-0.9246	8	0.30078	T	0.28	.	5.1617	0.15064	0.9999:0.0:1.0E-4:0.0	rs12609217;rs52817570;rs12609217	93	Q6ZN06	ZN813_HUMAN	V	40;93;124	ENSP00000419821:D40V;ENSP00000379684:D93V;ENSP00000418289:D124V	ENSP00000379684:D93V	D	+	2	0	ZNF813	58685576	0.052000	0.20516	0.003000	0.11579	0.140000	0.21249	0.867000	0.27968	0.393000	0.25203	0.172000	0.16884	GAT	A|0.945;T|0.055	0.055	strong		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		T	53993764	A	T	53993764	3	4	27	1	0	0	0	0	1	0	0	0	18172	333	12	5	288	5	ZNF813	19	53993764	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	231883	53993764	5135219	531	22219										
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721042	54721042	+	Missense_Mutation	SNP	T	T	C													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggaggaggctcagttgcctTccgtctaagggtcaagctgt							TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:54721042T>C	ENST00000391750.1	-	14	1952	c.1816A>G	c.(1816-1818)Aag>Gag	p.K606E	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.K607E|LILRB3_ENST00000407860.2_Missense_Mutation_p.K623E|LILRA6_ENST00000440558.2_Missense_Mutation_p.K606E|LILRA6_ENST00000270464.5_Missense_Mutation_p.K607E|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.K618E|LILRB3_ENST00000424807.1_Missense_Mutation_p.K606E|LILRB3_ENST00000245620.9_Missense_Mutation_p.K607E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	606					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGTTGCCTTCCGTCTAAGG	0.627																																					p.K607E		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	0			c.A1819G						scavenged	.						108	108	108					19																	54721042		2202	4300	6502	SO:0001583	missense	11025	exon13			TTGCCTTCCGTCT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1816A>G	19.37:g.54721042T>C	ENSP00000375630:p.Lys606Glu	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	167	5	0.0299401	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.739940	0.00675	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00490	7.07;7.07;7.03;7.06;7.03;7.07;7.07;7.09	2.64	-4.43	0.03568	.	.	.	.	.	T	0.00109	0.0003	N	0.00746	-1.225	0.09310	N	1	B;B;B;B;B;B;B	0.16802	0.001;0.007;0.0;0.019;0.001;0.001;0.001	B;B;B;B;B;B;B	0.19391	0.003;0.007;0.001;0.025;0.006;0.003;0.005	T	0.33624	-0.9861	9	0.02654	T	1	.	4.0644	0.09854	0.0:0.3045:0.3422:0.3533	.	623;606;607;618;623;606;607	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	E	606;606;618;607;623;606;607;607	ENSP00000375630:K606E;ENSP00000412771:K606E;ENSP00000345184:K618E;ENSP00000245620:K607E;ENSP00000384274:K623E;ENSP00000390120:K606E;ENSP00000270464:K607E;ENSP00000411227:K607E	ENSP00000270464:K607E	K	-	1	0	LILRB3;LILRA6	59412854	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.125000	0.03257	-0.821000	0.04312	-1.525000	0.00928	AAG	.	.	none		0.627	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		C	54721042	T	C	54721042	3	2	27	1	0	0	0	0	1	0	0	0	8792	1792	62	2	83	2	LILRB3	19	54721042	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	727278	54721042	4407941	532	22220	446	2								
LILRB3	11025	hgsc.bcm.edu	37	chr19	54721049	54721049	+	Silent	SNP	A	A	G													0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggctcagttgccttccgtctAagggtcaagctgtgcagctg					rs60566950	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:54721049A>G	ENST00000391750.1	-	14	1945	c.1809T>C	c.(1807-1809)ctT>ctC	p.L603L	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Silent_p.L604L|LILRB3_ENST00000407860.2_Silent_p.L620L|LILRA6_ENST00000440558.2_Silent_p.L603L|LILRA6_ENST00000270464.5_Silent_p.L604L|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Silent_p.L615L|LILRB3_ENST00000424807.1_Silent_p.L603L|LILRB3_ENST00000245620.9_Silent_p.L604L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	603					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTTCCGTCTAAGGGTCAAGC	0.632													.|||	155	0.0309505	0.0998	0.0086	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0174				p.L604L		Atlas-SNP	.											LILRB3,NS,carcinoma,0,1	LILRB3	67	1	0			c.T1812C						scavenged	.	A	,	147,4257		24,99,2079	104	105	104		1812,1809	0.8	0	19	dbSNP_129	104	5,8595		0,5,4295	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	24,104,6374	GG,GA,AA		0.0581,3.3379,1.1689	,	604/633,603/632	54721049	152,12852	2202	4300	6502	SO:0001819	synonymous_variant	11025	exon13			CCGTCTAAGGGTC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1809T>C	19.37:g.54721049A>G		Somatic	137	1	0.00729927		WXS	Illumina HiSeq	Phase_I	174	5	0.0287356	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			A|0.980;G|0.020	0.020	strong		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		G	54721049	A	G	54721049	2	3	27	1	0	0	0	0	0	0	0	1	8792	349	13	2		2	LILRB3	19	54721049	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	7	54721049	4407934	533	22221	446	2								
LILRA4	23547	hgsc.bcm.edu	37	chr19	54848741	54848741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	acgttgtgtgcgccgtagcaTctgtactggcccccgtagga	13	12	1	0	rs12985462	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:54848741T>C	ENST00000291759.4	-	5	938	c.882A>G	c.(880-882)agA>agG	p.R294R	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	294	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGCCGTAGCATCTGTACTGGC	0.692													T|||	872	0.174121	0.0204	0.2262	5008	,	,		13206	0.2143		0.1978	False		,,,				2504	0.2791				p.R294R		Atlas-SNP	.											LILRA4,NS,carcinoma,0,1	LILRA4	91	1	0			c.A882G						scavenged	.	T		199,4207		5,189,2009	32	32	32		882	-0.7	0	19	dbSNP_121	32	1570,7030		144,1282,2874	no	coding-synonymous	LILRA4	NM_012276.3		149,1471,4883	CC,CT,TT		18.2558,4.5166,13.6014		294/500	54848741	1769,11237	2203	4300	6503	SO:0001819	synonymous_variant	23547	exon5			GTAGCATCTGTAC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.882A>G	19.37:g.54848741T>C		Somatic	157	1	0.00636943		WXS	Illumina HiSeq	Phase_I	153	6	0.0392157	NM_012276	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																			T|0.855;C|0.145	0.145	strong		0.692	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		C	54848741	T	C	54848741	2	2	27	1	0	0	0	0	0	0	0	1	8787	1432	50	2		2	LILRA4	19	54848741	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	127692	54848741	4280242	534	22222										
NLRP9	338321	hgsc.bcm.edu	37	chr19	56249530	56249530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tagaaacaggttcagtgttaCctcccatgcctgctttcctg	8	12	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:56249530C>A	ENST00000332836.2	-	1	238	c.211G>T	c.(211-213)Gta>Tta	p.V71L	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	71	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCAGTGTTACCTCCCATGCC	0.493																																					p.V71L		Atlas-SNP	.											.	NLRP9	163	.	0			c.G211T						PASS	.						444	438	440					19																	56249530		2203	4300	6503	SO:0001583	missense	338321	exon1			GTGTTACCTCCCA	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.211G>T	19.37:g.56249530C>A	ENSP00000331857:p.Val71Leu	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	166	46	0.277108	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436550	0.43224	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.57595	0.39	3.63	-3.39	0.04868	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.47581	0.1453	L	0.39020	1.185	0.09310	N	1	P	0.46395	0.877	P	0.51016	0.656	T	0.48647	-0.9017	9	0.33141	T	0.24	.	9.9981	0.41911	0.1498:0.2618:0.5884:0.0	.	71	Q7RTR0	NALP9_HUMAN	L	71	ENSP00000331857:V71L	ENSP00000331857:V71L	V	-	1	0	NLRP9	60941342	0.080000	0.21391	0.000000	0.03702	0.011000	0.07611	-0.007000	0.12810	-0.423000	0.07394	-0.175000	0.13238	GTA	.	.	none		0.493	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56249530	C	A	56249530	3	1	27	1	0	0	0	0	1	0	0	0	10484	507	18	4	2800	4	NLRP9	19	56249530	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1400789	56249530	2879453	535	22223										
NLRP5	126206	hgsc.bcm.edu	37	chr19	56552307	56552307	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gactggaggactgtggcatcAcagccacgggttgccagagt	15	10	1	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:56552307A>C	ENST00000390649.3	+	11	2806	c.2806A>C	c.(2806-2808)Aca>Cca	p.T936P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	936					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTGGCATCACAGCCACGGG	0.542																																					p.T936P		Atlas-SNP	.											.	NLRP5	217	.	0			c.A2806C						PASS	.						69	69	69					19																	56552307		2005	4191	6196	SO:0001583	missense	126206	exon11			GGCATCACAGCCA	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2806A>C	19.37:g.56552307A>C	ENSP00000375063:p.Thr936Pro	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	58	6	0.103448	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114132	0.37339	.	.	ENSG00000171487	ENST00000390649	T	0.57107	0.42	4.37	-2.11	0.07187	.	0.889887	0.09138	N	0.843342	T	0.59783	0.2219	M	0.90595	3.13	0.09310	N	0.999999	B	0.32543	0.375	B	0.42653	0.394	T	0.60712	-0.7209	10	0.66056	D	0.02	.	1.426	0.02323	0.3361:0.1463:0.0903:0.4272	.	936	P59047	NALP5_HUMAN	P	936	ENSP00000375063:T936P	ENSP00000375063:T936P	T	+	1	0	NLRP5	61244119	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.019000	0.03622	-0.685000	0.05177	-1.155000	0.01812	ACA	.	.	none		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		C	56552307	A	C	56552307	3	2	27	1	0	0	0	0	1	0	0	0	10480	159	6	5	2848	5	NLRP5	19	56552307	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	302777	56552307	2576676	536	22224										
PEG3	5178	hgsc.bcm.edu	37	chr19	57325083	57325083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggtgtctggcgagggacaggCggtcattgaagagctgccca	17	9	2	2	rs34051133	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:57325083C>T	ENST00000326441.9	-	10	5090	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	PEG3_ENST00000593695.1_Missense_Mutation_p.R1450H|PEG3_ENST00000423103.2_Missense_Mutation_p.R1576H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1452H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1576			R -> H (in dbSNP:rs34051133).|R -> L. {ECO:0000269|PubMed:11677152}.		apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1576H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGGGACAGGCGGTCATTGAA	0.527													C|||	908	0.18131	0.0257	0.1758	5008	,	,		20226	0.3948		0.1262	False		,,,				2504	0.2321				p.R1576H		Atlas-SNP	.											ZIM2_ENST00000326441,colon,carcinoma,-1,4	PEG3	414	4	2	Substitution - Missense(2)	stomach(2)	c.G4727A						PASS	.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG,	204,4202	125.7+/-162.9	4,196,2003	105	92	96		4727,4349,4727,4355,,,4727,	0.5	0.9	19	dbSNP_126	96	1119,7481	231.2+/-265.3	77,965,3258	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	29,29,29,29,,,29,	81,1161,5261	TT,TC,CC		13.0116,4.63,10.1722	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,	1576/1589,1450/1463,1576/1589,1452/1465,,,1576/1589,	57325083	1323,11683	2203	4300	6503	SO:0001583	missense	5178	exon9			GACAGGCGGTCAT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4727G>A	19.37:g.57325083C>T	ENSP00000326581:p.Arg1576His	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	125	11	0.088	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	368	0.1684981684981685	11	0.022357723577235773	61	0.1685082872928177	202	0.3531468531468531	94	0.12401055408970976	C	15.05	2.718073	0.48622	0.0463	0.130116	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.53206	0.63;0.63	3.87	0.537	0.17144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.518734	0.16408	N	0.215754	T	0.00012	0.0000	L	0.39633	1.23	.	.	.	B;B;B	0.21753	0.06;0.033;0.06	B;B;B	0.17722	0.019;0.013;0.013	T	0.36311	-0.9753	9	0.32370	T	0.25	-9.655	3.157	0.06508	0.2103:0.5647:0.0:0.225	rs34051133	1452;1576;1511	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	1576	ENSP00000326581:R1576H;ENSP00000403051:R1576H	ENSP00000326581:R1576H	R	-	2	0	ZIM2	62016895	0.000000	0.05858	0.879000	0.34478	0.646000	0.38490	-0.283000	0.08433	0.216000	0.20781	-0.293000	0.09583	CGC	C|0.872;T|0.128	0.128	strong		0.527	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57325083	C	T	57325083	3	4	27	1	0	0	0	0	1	0	0	0	11720	768	27	1	43	1	PEG3	19	57325083	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	772776	57325083	1803900	537	22225										
ZNF418	147686	hgsc.bcm.edu	37	chr19	58439306	58439306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccacacatttcacaagagtgGgccttcttgggagacacacc	9	13	2	2	rs7253514	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr19:58439306G>A	ENST00000396147.1	-	4	534	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ZNF418_ENST00000599852.1_5'UTR|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.A102A|ZNF418_ENST00000595830.1_Silent_p.A81A	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	81	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CACAAGAGTGGGCCTTCTTGG	0.507													G|||	1448	0.289137	0.2595	0.3573	5008	,	,		18775	0.4048		0.2545	False		,,,				2504	0.1973				p.A81A		Atlas-SNP	.											.	ZNF418	76	.	0			c.C243T						PASS	.	G		1066,3340		131,804,1268	62	66	64		243	-1.5	0	19	dbSNP_116	64	2219,6381		293,1633,2374	no	coding-synonymous	ZNF418	NM_133460.1		424,2437,3642	AA,AG,GG		25.8023,24.1943,25.2576		81/677	58439306	3285,9721	2203	4300	6503	SO:0001819	synonymous_variant	147686	exon4			AGAGTGGGCCTTC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.243C>T	19.37:g.58439306G>A		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	179	8	0.0446927	NM_133460	Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																			G|0.704;A|0.296	0.296	strong		0.507	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58439306	G	A	58439306	2	1	27	1	0	0	0	0	0	0	0	1	17892	1219	43	2		2	ZNF418	19	58439306	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1114223	58439306	689677	538	22226										
DEFB127	140850	hgsc.bcm.edu	37	chr20	139456	139456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctggaataactatgtacaaGgacattgcaggaaaatctgc	10	7	1	0	rs12624954	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:139456G>A	ENST00000382388.3	+	2	166	c.91G>A	c.(91-93)Gga>Aga	p.G31R		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	31			G -> R (in dbSNP:rs12624954). {ECO:0000269|PubMed:11854508}.		defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CTATGTACAAGGACATTGCAG	0.403													G|||	1624	0.324281	0.0424	0.3487	5008	,	,		22136	0.5446		0.3419	False		,,,				2504	0.4427				p.G31R		Atlas-SNP	.											DEFB127,NS,carcinoma,-1,1	DEFB127	15	1	0			c.G91A						PASS	.	G	ARG/GLY	395,4011	195.3+/-220.0	18,359,1826	92	82	85		91	3.1	0.1	20	dbSNP_120	85	3023,5577	463.2+/-365.9	518,1987,1795	yes	missense	DEFB127	NM_139074.2	125	536,2346,3621	AA,AG,GG		35.1512,8.965,26.2802	probably-damaging	31/100	139456	3418,9588	2203	4300	6503	SO:0001583	missense	140850	exon2			GTACAAGGACATT	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"Defensins, beta"	16206	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 73"	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.91G>A	20.37:g.139456G>A	ENSP00000371825:p.Gly31Arg	Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	290	12	0.0413793	NM_139074	Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	CCDS12991.1	702	0.32142857142857145	19	0.03861788617886179	135	0.3729281767955801	287	0.5017482517482518	261	0.34432717678100266	G	10.22	1.289992	0.23478	0.08965	0.351512	ENSG00000088782	ENST00000382388	T	0.62639	0.01	3.12	3.12	0.35913	.	0.000000	0.33834	N	0.004506	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	D	0.89917	1.0	D	0.97110	1.0	T	0.47849	-0.9085	8	0.56958	D	0.05	-21.6232	9.9776	0.41793	0.0:0.0:1.0:0.0	rs12624954;rs52796717;rs61481484;rs12624954	31	Q9H1M4	DB127_HUMAN	R	31	ENSP00000371825:G31R	ENSP00000371825:G31R	G	+	1	0	DEFB127	87456	0.951000	0.32395	0.140000	0.22221	0.028000	0.11728	3.236000	0.51336	2.059000	0.61396	0.305000	0.20034	GGA	G|0.719;A|0.281	0.281	strong		0.403	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		A	139456	G	A	139456	3	1	27	1	0	0	0	0	1	0	0	0	4413	1001	35	2	97	2	DEFB127	20	139456	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		139456	62886064	539	22227										
SNPH	9751	hgsc.bcm.edu	37	chr20	1285933	1285933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agcggctctgctgaggatggGgcagacagtggctttgcagc	17	9	1	2	rs3795139	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:1285933G>A	ENST00000381873.3	+	6	956	c.720G>A	c.(718-720)ggG>ggA	p.G240G	SNPH_ENST00000381867.1_Silent_p.G284G	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	240					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGAGGATGGGGCAGACAGTG	0.672													G|||	1973	0.39397	0.3979	0.3314	5008	,	,		17209	0.5407		0.3201	False		,,,				2504	0.3579				p.G240G		Atlas-SNP	.											.	SNPH	89	.	0			c.G720A						PASS	.	G		1676,2726		316,1044,841	27	27	27		720	-0.2	0.4	20	dbSNP_107	27	2477,6113		357,1763,2175	no	coding-synonymous	SNPH	NM_014723.2		673,2807,3016	AA,AG,GG		28.8359,38.0736,31.9658		240/495	1285933	4153,8839	2201	4295	6496	SO:0001819	synonymous_variant	9751	exon6			GGATGGGGCAGAC		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.720G>A	20.37:g.1285933G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_014723	Q8IYI3	Silent	SNP	ENST00000381873.3	37	CCDS13012.1																																																																																			G|0.650;A|0.350	0.350	strong		0.672	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		A	1285933	G	A	1285933	2	1	27	1	0	0	0	0	0	0	0	1	14850	1219	43	2		2	SNPH	20	1285933	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	1146477	1285933	61739587	540	22228										
SIRPB1	10326	hgsc.bcm.edu	37	chr20	1592120	1592120	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggggtgatgttactgatgcGgatggaaaagtccatgttgt	15	4	0	2	rs1135201		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:1592120G>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R106S|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R106S|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTACTGATGCGGATGGAAAAG	0.512																																					p.R106S		Atlas-SNP	.											SIRPB1_ENST00000279477,NS,carcinoma,0,1	SIRPB1	83	1	0			c.C316A						scavenged	.						105	121	117					20																	1592120		448	1337	1785	SO:0001627	intron_variant	10326	exon2			TGATGCGGATGGA	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8394C>A	20.37:g.1592120G>T		Somatic	139	5	0.0359712		WXS	Illumina HiSeq	Phase_I	134	6	0.0447761	NM_001135844	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	560	0.2564102564102564	150	0.3048780487804878	74	0.20441988950276244	183	0.31993006993006995	153	0.20184696569920843	.	2.402	-0.337253	0.05278	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.65364	-0.15	2.65	-2.79	0.05841	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52266	1.64	0.34870	D	0.743495	B	0.31435	0.323	B	0.31869	0.137	T	0.37753	-0.9692	9	0.37606	T	0.19	.	4.2858	0.10855	0.1304:0.0:0.2968:0.5727	rs1135201;rs3197735	106	Q5TFQ8	SIRBL_HUMAN	S	106	ENSP00000279477:R106S	ENSP00000279477:R106S	R	-	1	0	SIRPB1	1540120	0.081000	0.21417	0.142000	0.22268	0.020000	0.10135	0.000000	0.12993	-0.294000	0.08973	-2.062000	0.00397	CGC	G|0.744;T|0.256	0.256	strong		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1592120	G	T	1592120	1	4	27	0	1	0	0	0	0	0	0	0	14333	1116	39	4		4	SIRPB1	20	1592120	Intron	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	306187	1592120	61433400	541	22229										
C20orf7	79133	hgsc.bcm.edu	37	chr20	13779113	13779113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttctcatattttagtttgcaTtgggtgaatgaccttcctag	8	7	1	2	rs2273317	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:13779113T>C	ENST00000378106.5	+	6	605	c.486T>C	c.(484-486)caT>caC	p.H162H	NDUFAF5_ENST00000463598.1_Silent_p.H134H|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	162					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)	p.H162H(1)									TTAGTTTGCATTGGGTGAATG	0.308													T|||	264	0.0527157	0.0015	0.0807	5008	,	,		17672	0.1974		0.0	False		,,,				2504	0.0072				p.H162H		Atlas-SNP	.											C20orf7,NS,carcinoma,0,1	.	.	1	1	Substitution - coding silent(1)	stomach(1)	c.T486C						scavenged	.	T	,	10,4396	16.8+/-37.8	0,10,2193	153	150	151		402,486	-2.5	1	20	dbSNP_100	151	4,8594	3.0+/-9.4	0,4,4295	no	coding-synonymous,coding-synonymous	C20orf7	NM_001039375.2,NM_024120.4	,	0,14,6488	CC,CT,TT		0.0465,0.227,0.1077	,	134/318,162/346	13779113	14,12990	2203	4299	6502	SO:0001819	synonymous_variant	79133	exon6			TTTGCATTGGGTG		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"Mitochondrial respiratory chain complex assembly factors"	15899	protein-coding gene	gene with protein product		612360	"chromosome 20 open reading frame 7"	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.486T>C	20.37:g.13779113T>C		Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	172	6	0.0348837	NM_024120	A8K166|Q6GPH3|Q9H6F4	Silent	SNP	ENST00000378106.5	37	CCDS13118.1																																																																																			T|0.983;C|0.017	0.017	strong		0.308	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		C	13779113	T	C	13779113	2	2	27	1	0	0	0	0	0	0	0	1	2115	1490	52	2		2	C20orf7	20	13779113	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	12186993	13779113	49246407	542	22230										
CST9L	128821	hgsc.bcm.edu	37	chr20	23546639	23546639	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gctctgtgctttcttggaaaTggcagttgtcaatgtcgtct	11	8	4	0	rs2295564	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:23546639T>G	ENST00000376979.3	-	2	624	c.326A>C	c.(325-327)cAt>cCt	p.H109P		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	109			H -> P (in dbSNP:rs2295564).			extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.H109P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTCTTGGAAATGGCAGTTGTC	0.502													G|||	1882	0.375799	0.1899	0.4049	5008	,	,		22065	0.5417		0.3877	False		,,,				2504	0.4233				p.H109P		Atlas-SNP	.											CST9L,NS,carcinoma,0,1	CST9L	25	1	1	Substitution - Missense(1)	prostate(1)	c.A326C						scavenged	.	G	PRO/HIS	997,3409	730.4+/-410.2	128,741,1334	285	228	247		326	1.9	0.2	20	dbSNP_100	247	3511,5089	633.0+/-398.7	710,2091,1499	yes	missense	CST9L	NM_080610.2	77	838,2832,2833	GG,GT,TT		40.8256,22.6282,34.6609	benign	109/148	23546639	4508,8498	2203	4300	6503	SO:0001583	missense	128821	exon2			TGGAAATGGCAGT		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.326A>C	20.37:g.23546639T>G	ENSP00000366178:p.His109Pro	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	111	4	0.036036	NM_080610	B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	CCDS13157.1	839	0.3841575091575092	89	0.18089430894308944	153	0.42265193370165743	305	0.5332167832167832	292	0.38522427440633245	G	0.007	-1.937714	0.00484	0.226282	0.408256	ENSG00000101435	ENST00000376979	T	0.24350	1.86	1.92	1.92	0.25849	Proteinase inhibitor I25, cystatin (2);	0.000000	0.37261	N	0.002175	T	0.00012	0.0000	N	0.00016	-2.85	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	9	0.02654	T	1	.	5.6793	0.17765	0.0:0.0:0.6787:0.3213	rs2295564;rs17231619;rs52819629;rs2295564	109	Q9H4G1	CST9L_HUMAN	P	109	ENSP00000366178:H109P	ENSP00000366178:H109P	H	-	2	0	CST9L	23494639	0.711000	0.27906	0.202000	0.23494	0.040000	0.13550	0.460000	0.21924	0.363000	0.24346	-0.323000	0.08544	CAT	T|0.629;G|0.371	0.371	strong		0.502	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		G	23546639	T	G	23546639	3	3	27	1	0	0	0	0	1	0	0	0	3980	1464	51	5	125	5	CST9L	20	23546639	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	9767526	23546639	39478881	543	22231										
PYGB	5834	hgsc.bcm.edu	37	chr20	25264786	25264786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctggagaaggagtacaaggTgaagatcaacccctcctcca	10	12	1	3			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:25264786T>C	ENST00000216962.4	+	14	1777	c.1667T>C	c.(1666-1668)gTg>gCg	p.V556A		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	556					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GAGTACAAGGTGAAGATCAAC	0.537																																					p.V556A		Atlas-SNP	.											.	PYGB	84	.	0			c.T1667C						PASS	.						216	150	173					20																	25264786		2203	4300	6503	SO:0001583	missense	5834	exon14			ACAAGGTGAAGAT		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1667T>C	20.37:g.25264786T>C	ENSP00000216962:p.Val556Ala	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	87	25	0.287356	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498726	0.64298	.	.	ENSG00000100994	ENST00000216962	D	0.95069	-3.6	3.86	3.86	0.44501	.	0.060202	0.64402	D	0.000005	D	0.95802	0.8634	M	0.90870	3.155	0.80722	D	1	B	0.28208	0.203	B	0.37601	0.254	D	0.96223	0.9162	10	0.87932	D	0	-22.5788	12.7816	0.57480	0.0:0.0:0.0:1.0	.	556	P11216	PYGB_HUMAN	A	556	ENSP00000216962:V556A	ENSP00000216962:V556A	V	+	2	0	PYGB	25212786	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.626000	0.83164	1.761000	0.52028	0.379000	0.24179	GTG	.	.	none		0.537	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		C	25264786	T	C	25264786	3	2	27	1	0	0	0	0	1	0	0	0	12860	1696	59	2	1721	2	PYGB	20	25264786	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	1718147	25264786	37760734	544	22232										
TOX2	84969	hgsc.bcm.edu	37	chr20	42694462	42694462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcctggcctccttcctgacGccgtcggacctgcaggcctt	12	17	0	1	rs148482710	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:42694462G>A	ENST00000358131.5	+	6	1225	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	TOX2_ENST00000423191.2_Silent_p.T315T|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.T357T|TOX2_ENST00000372999.1_Silent_p.T315T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	339					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCTTCCTGACGCCGTCGGACC	0.662													G|||	3	0.000599042	0.0015	0.0	5008	,	,		12771	0.001		0.0	False		,,,				2504	0.0				p.T357T		Atlas-SNP	.											TOX2_ENST00000348077,right_lower_lobe,carcinoma,0,2	TOX2	158	2	0			c.G1071A						scavenged	.	G	,,,	5,4401	9.9+/-24.2	0,5,2198	78	83	81		945,1071,1017,945	-2.1	0.9	20	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,,	315/465,357/507,339/489,315/465	42694462	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84969	exon7			CCTGACGCCGTCG	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1017G>A	20.37:g.42694462G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	132	3	0.0227273	NM_001098797	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1																																																																																			G|0.999;A|0.001	0.001	strong		0.662	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			A	42694462	G	A	42694462	2	1	27	1	0	0	0	0	0	0	0	1	16375	1074	38	1		1	TOX2	20	42694462	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	17429676	42694462	20331058	545	22233										
PREX1	57580	hgsc.bcm.edu	37	chr20	47246077	47246077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggatgaggccggcgcccacaCtcccagcagcaccaggcttt	12	16	0	1	rs3936192	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:47246077C>G	ENST00000371941.3	-	37	4698	c.4676G>C	c.(4675-4677)aGt>aCt	p.S1559T	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1559			S -> T (in dbSNP:rs3936192).		actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCGCCCACACTCCCAGCAGC	0.632													C|||	627	0.1252	0.0446	0.147	5008	,	,		17135	0.1597		0.1054	False		,,,				2504	0.2035				p.S1559T		Atlas-SNP	.											.	PREX1	441	.	0			c.G4676C						PASS	.	C	THR/SER	222,4184	134.9+/-171.1	6,210,1987	78	82	80		4676	1.8	0.2	20	dbSNP_108	80	811,7789	188.4+/-235.4	35,741,3524	yes	missense	PREX1	NM_020820.3	58	41,951,5511	GG,GC,CC		9.4302,5.0386,7.9425	benign	1559/1660	47246077	1033,11973	2203	4300	6503	SO:0001583	missense	57580	exon37			CCCACACTCCCAG	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4676G>C	20.37:g.47246077C>G	ENSP00000361009:p.Ser1559Thr	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	111	5	0.045045	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	267	0.12225274725274725	34	0.06910569105691057	49	0.13535911602209943	101	0.17657342657342656	83	0.10949868073878628	C	0.861	-0.735145	0.03111	0.050386	0.094302	ENSG00000124126	ENST00000371941	T	0.61859	0.07	3.95	1.8	0.24995	.	0.642949	0.13848	U	0.358568	T	0.00039	0.0001	N	0.01048	-1.04	0.58432	P	1.0000000000287557E-6	B;B	0.32051	0.354;0.006	B;B	0.27887	0.084;0.007	T	0.10405	-1.0631	9	0.20519	T	0.43	.	4.2811	0.10833	0.1196:0.4991:0.2805:0.1008	rs3936192;rs3936192	1559;856	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	T	1559	ENSP00000361009:S1559T	ENSP00000361009:S1559T	S	-	2	0	PREX1	46679484	0.860000	0.29831	0.151000	0.22473	0.119000	0.20118	1.854000	0.39368	0.777000	0.33496	0.462000	0.41574	AGT	C|0.908;G|0.092	0.092	strong		0.632	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		G	47246077	C	G	47246077	3	3	27	1	0	0	0	0	1	0	0	0	12476	565	20	4	319	4	PREX1	20	47246077	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	4551615	47246077	15779443	546	22234										
CDH26	60437	hgsc.bcm.edu	37	chr20	58587641	58587641	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tacctacctcacgtctacagCgaggaaggggagtgtggagg	15	9	2	0	rs375717739		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:58587641C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000244049.3_Silent_p.S77S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.S785S			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACGTCTACAGCGAGGAAGGGG	0.547																																					p.S785S		Atlas-SNP	.											.	CDH26	229	.	0			c.C2355T						PASS	.	C	,	0,4406		0,0,2203	99	92	94		354,2355	-7.6	0	20		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH26	NM_021810.4,NM_177980.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	118/166,785/833	58587641	1,13005	2203	4300	6503	SO:0001627	intron_variant	60437	exon18			CTACAGCGAGGAA	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5799C>T	20.37:g.58587641C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	24	0.307692	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37																																																																																				.	.	weak		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58587641	C	T	58587641	1	4	27	0	1	0	0	0	0	0	0	0	3110	767	27	1		1	CDH26	20	58587641	Intron	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	11341564	58587641	4437879	547	22235										
HRH3	11255	hgsc.bcm.edu	37	chr20	60791422	60791422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	agcgaggccgaggacgccgaCggcttggagcccctcttgag	16	13	1	1	rs3787430	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:60791422C>T	ENST00000340177.5	-	3	1262	c.978G>A	c.(976-978)ccG>ccA	p.P326P	HRH3_ENST00000317393.6_Silent_p.P326P	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	326					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	AGGACGCCGACGGCTTGGAGC	0.677													C|||	891	0.177915	0.1846	0.1513	5008	,	,		14281	0.1815		0.1441	False		,,,				2504	0.2188				p.P326P		Atlas-SNP	.											.	HRH3	25	.	0			c.G978A						PASS	.	C		787,3601		82,623,1489	11	11	11		978	-9.1	0.2	20	dbSNP_107	11	1221,7339		105,1011,3164	no	coding-synonymous	HRH3	NM_007232.2		187,1634,4653	TT,TC,CC		14.264,17.9353,15.5082		326/446	60791422	2008,10940	2194	4280	6474	SO:0001819	synonymous_variant	11255	exon3			CGCCGACGGCTTG	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.978G>A	20.37:g.60791422C>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	69	5	0.0724638	NM_007232	Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	37	CCDS13493.1																																																																																			C|0.833;T|0.167	0.167	strong		0.677	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		T	60791422	C	T	60791422	2	4	27	1	0	0	0	0	0	0	0	1	7357	523	19	1		1	HRH3	20	60791422	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	2203781	60791422	2234098	548	22236										
C20orf151	140893	hgsc.bcm.edu	37	chr20	60989365	60989365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tgccccctccaggcgaaggtCctgcatgcccgccagggcac	12	18	0	0	rs3810553	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:60989365C>T	ENST00000252998.1	-	10	1198	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	348			D -> N (in dbSNP:rs3810553). {ECO:0000269|PubMed:15489334}.			extracellular space (GO:0005615)											AGGCGAAGGTCCTGCATGCCC	0.711													C|||	1395	0.278554	0.1006	0.3487	5008	,	,		12631	0.4266		0.3211	False		,,,				2504	0.273				p.D348N		Atlas-SNP	.											.	.	.	.	0			c.G1042A						PASS	.	C	ASN/ASP	468,3542		31,406,1568	5	5	5		1042	0.9	0.1	20	dbSNP_107	5	1966,5974		282,1402,2286	yes	missense	C20orf151	NM_080833.2	23	313,1808,3854	TT,TC,CC		24.7607,11.6708,20.3682	benign	348/665	60989365	2434,9516	2005	3970	5975	SO:0001583	missense	140893	exon10			GAAGGTCCTGCAT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1042G>A	20.37:g.60989365C>T	ENSP00000252998:p.Asp348Asn	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	52	6	0.115385	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	698	0.31959706959706957	68	0.13821138211382114	110	0.30386740331491713	264	0.46153846153846156	256	0.33773087071240104	C	12.04	1.817865	0.32145	0.116708	0.247607	ENSG00000130701	ENST00000252998	T	0.48201	0.82	5.05	0.895	0.19247	.	0.389162	0.26183	N	0.025844	T	0.00012	0.0000	L	0.46157	1.445	0.39568	P	0.030768000000000018	B	0.30033	0.266	B	0.31290	0.127	T	0.45731	-0.9241	9	0.35671	T	0.21	-13.9181	5.4657	0.16642	0.0:0.6147:0.144:0.2414	rs3810553;rs17846035;rs17859021;rs3810553	348	Q8NC74	CT151_HUMAN	N	348	ENSP00000252998:D348N	ENSP00000252998:D348N	D	-	1	0	C20orf151	60422760	0.075000	0.21258	0.123000	0.21794	0.227000	0.25037	0.339000	0.19875	-0.059000	0.13154	0.491000	0.48974	GAC	C|0.684;T|0.316	0.316	strong		0.711	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		T	60989365	C	T	60989365	3	4	27	1	0	0	0	0	1	0	0	0	2091	855	30	2	972	2	C20orf151	20	60989365	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	197943	60989365	2036155	549	22237										
EEF1A2	1917	hgsc.bcm.edu	37	chr20	62126299	62126299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tagcgcttctcgctgtaggcCggctctgtggagtccatttt	12	11	2	0	rs2274860	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:62126299C>T	ENST00000298049.7	-	3	550	c.480G>A	c.(478-480)ccG>ccA	p.P160P	EEF1A2_ENST00000217182.3_Silent_p.P160P			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	160	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCTGTAGGCCGGCTCTGTGG	0.592													C|||	702	0.140176	0.0068	0.1095	5008	,	,		17708	0.4286		0.1392	False		,,,				2504	0.046				p.P160P		Atlas-SNP	.											.	EEF1A2	60	.	0			c.G480A						PASS	.	C		147,4255	101.2+/-139.8	1,145,2055	108	85	93		480	-7.7	0.4	20	dbSNP_100	93	1142,7458	234.4+/-267.4	78,986,3236	no	coding-synonymous	EEF1A2	NM_001958.2		79,1131,5291	TT,TC,CC		13.2791,3.3394,9.9139		160/464	62126299	1289,11713	2201	4300	6501	SO:0001819	synonymous_variant	1917	exon4			GTAGGCCGGCTCT	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.480G>A	20.37:g.62126299C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	115	7	0.0608696	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																			C|0.872;T|0.128	0.128	strong		0.592	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62126299	C	T	62126299	2	4	27	1	0	0	0	0	0	0	0	1	4924	639	23	1		1	EEF1A2	20	62126299	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1136934	62126299	899221	550	22238										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62193445	62193445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ctggtgggccctgaatgaccGtgaaaggcttctccagagcc	13	12	1	4	rs3810481	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr20:62193445G>A	ENST00000467148.1	-	10	6578	c.6509C>T	c.(6508-6510)aCg>aTg	p.T2170M	HELZ2_ENST00000427522.2_Missense_Mutation_p.T1601M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2170	Interaction with THRAP3.		T -> M (in dbSNP:rs3810481).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGAATGACCGTGAAAGGCTT	0.647													G|||	1038	0.207268	0.0068	0.085	5008	,	,		10051	0.5734		0.16	False		,,,				2504	0.2362				p.T2170M		Atlas-SNP	.											.	.	.	.	0			c.C6509T						PASS	.	G	MET/THR,MET/THR	159,4219		2,155,2032	16	19	18		6509,4802	4.1	0.1	20	dbSNP_107	18	1254,7310		82,1090,3110	yes	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	81,81	84,1245,5142	AA,AG,GG		14.6427,3.6318,10.9179	probably-damaging,probably-damaging	2170/2650,1601/2081	62193445	1413,11529	2189	4282	6471	SO:0001583	missense	85441	exon11			ATGACCGTGAAAG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6509C>T	20.37:g.62193445G>A	ENSP00000417401:p.Thr2170Met	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	106	6	0.0566038	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	504	0.23076923076923078	6	0.012195121951219513	38	0.10497237569060773	336	0.5874125874125874	124	0.16358839050131926	G	14.03	2.414176	0.42817	0.036318	0.146427	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.84589	-1.87;-1.87	4.06	4.06	0.47325	ATPase, AAA+ type, core (1);	0.191368	0.44483	D	0.000456	T	0.00012	0.0000	M	0.87328	2.875	0.21697	P	0.999589272	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.37957	-0.9683	9	0.72032	D	0.01	-10.5405	11.8752	0.52544	0.0894:0.0:0.9106:0.0	rs3810481;rs60423961;rs3810481	2170;1601	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	1601;2170	ENSP00000393257:T1601M;ENSP00000417401:T2170M	ENSP00000393257:T1601M	T	-	2	0	RP4-697K14.7	61663889	1.000000	0.71417	0.078000	0.20375	0.007000	0.05969	5.234000	0.65343	1.830000	0.53286	0.313000	0.20887	ACG	G|0.836;A|0.164	0.164	strong		0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62193445	G	A	62193445	3	1	27	1	0	0	0	0	1	0	0	0	12485	1145	40	1	1480	1	PRIC285	20	62193445	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	67146	62193445	832075	551	22239										
KRTAP27-1	643812	hgsc.bcm.edu	37	chr21	31709691	31709691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aagaactttctgattggcacGctgtcctttcgcagggcctg	11	11	1	2	rs2244485	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr21:31709691G>A	ENST00000382835.2	-	1	321	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	99			A -> V (in dbSNP:rs2244485).			intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGATTGGCACGCTGTCCTTTC	0.502													G|||	1609	0.321286	0.1793	0.3473	5008	,	,		20460	0.2639		0.4503	False		,,,				2504	0.4213				p.A99V		Atlas-SNP	.											KRTAP27-1,NS,carcinoma,-1,1	KRTAP27-1	53	1	0			c.C296T						scavenged	.	G	VAL/ALA	979,3427	367.8+/-318.4	108,763,1332	133	133	133		296	0.3	0	21	dbSNP_100	133	4174,4426	568.2+/-389.0	1012,2150,1138	yes	missense	KRTAP27-1	NM_001077711.1	64	1120,2913,2470	AA,AG,GG		48.5349,22.2197,39.6202	benign	99/208	31709691	5153,7853	2203	4300	6503	SO:0001583	missense	643812	exon1			TGGCACGCTGTCC	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.296C>T	21.37:g.31709691G>A	ENSP00000372286:p.Ala99Val	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	158	3	0.0189873	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	674	0.3086080586080586	81	0.16463414634146342	127	0.35082872928176795	126	0.2202797202797203	340	0.44854881266490765	G	5.791	0.330292	0.10956	0.222197	0.485349	ENSG00000206107	ENST00000382835	T	0.03301	3.98	4.44	0.262	0.15597	.	2.953730	0.01681	N	0.026127	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P	0.40032	0.699	B	0.32677	0.15	T	0.44019	-0.9355	9	0.34782	T	0.22	2.1633	4.478	0.11753	0.2144:0.3548:0.4308:0.0	rs2244485;rs17593215;rs56539537;rs2244485	99	Q3LI81	KR271_HUMAN	V	99	ENSP00000372286:A99V	ENSP00000372286:A99V	A	-	2	0	KRTAP27-1	30631562	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.536000	0.23129	0.039000	0.15632	0.591000	0.81541	GCG	G|0.654;A|0.346	0.346	strong		0.502	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709691	G	A	31709691	3	1	27	1	0	0	0	0	1	0	0	0	8544	1087	38	1	331	1	KRTAP27-1	21	31709691	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10		31709691	16420204	552	22240										
PRDM15	63977	hgsc.bcm.edu	37	chr21	43221555	43221555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gtcactaagctggctccccaGgggcgtgatggagttgacca	14	11	1	2	rs2236694	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr21:43221555G>A	ENST00000269844.3	-	31	4479	c.4369C>T	c.(4369-4371)Ctg>Ttg	p.L1457L	PRDM15_ENST00000422911.1_Silent_p.L1148L|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Silent_p.L1128L|PRDM15_ENST00000447207.2_Silent_p.L1091L|PRDM15_ENST00000538201.1_Silent_p.L1111L	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1457					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)	p.L1457L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGCTCCCCAGGGGCGTGATG	0.647													g|||	499	0.0996406	0.0265	0.062	5008	,	,		16209	0.1558		0.1054	False		,,,				2504	0.1616				p.L1457L		Atlas-SNP	.											PRDM15,NS,carcinoma,0,1	PRDM15	110	1	1	Substitution - coding silent(1)	stomach(1)	c.C4369T						scavenged	.		,	156,4250	106.5+/-144.9	3,150,2050	84	74	78		3382,4369	2.5	1	21	dbSNP_98	78	808,7792	188.9+/-235.7	38,732,3530	no	coding-synonymous,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	41,882,5580	AA,AG,GG		9.3953,3.5406,7.412	,	1128/1179,1457/1508	43221555	964,12042	2203	4300	6503	SO:0001819	synonymous_variant	63977	exon31			TCCCCAGGGGCGT	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4369C>T	21.37:g.43221555G>A		Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	121	8	0.0661157	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																			G|0.915;A|0.085	0.085	strong		0.647	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43221555	G	A	43221555	2	1	27	1	0	0	0	0	0	0	0	1	12456	991	35	2		2	PRDM15	21	43221555	Silent	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	11511864	43221555	4908340	553	22241										
PEX26	55670	hgsc.bcm.edu	37	chr22	18562701	18562701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aggccctggcagaaatggatCggtggcaagaagtcctctcc	13	11	1	2	rs62641228		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:18562701C>T	ENST00000329627.7	+	3	498	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000428061.2_Missense_Mutation_p.R98W|PEX26_ENST00000399744.3_Missense_Mutation_p.R98W|XXbac-B476C20.9_ENST00000426483.1_RNA	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	98			R -> W (in PBD7B; neonatal adrenoleukodystrophy; affects the interaction with PEX6). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857}.		protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R98W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGAAATGGATCGGTGGCAAGA	0.517																																					p.R98W		Atlas-SNP	.											PEX26,NS,carcinoma,0,1	PEX26	27	1	1	Substitution - Missense(1)	lung(1)	c.C292T	GRCh37	CM032027	PEX26	M	rs62641228	scavenged	.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	159	139	146	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	292,292,292	5.5	1	22	dbSNP_129	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PEX26	NM_001127649.2,NM_001199319.1,NM_017929.5	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	98/306,98/257,98/306	18562701	1,13005	2203	4300	6503	SO:0001583	missense	55670	exon2			ATGGATCGGTGGC	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.292C>T	22.37:g.18562701C>T	ENSP00000331106:p.Arg98Trp	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	187	4	0.0213904	NM_001127649	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812586	0.90707	0.0	1.16E-4	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.94793	-3.52;-3.52;-3.52	5.46	5.46	0.80206	.	0.207499	0.33057	U	0.005321	D	0.97114	0.9057	M	0.78637	2.42	0.47698	A	0.999494	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97461	1.0034	9	0.87932	D	0	-20.661	16.8283	0.85937	0.0:1.0:0.0:0.0	rs62641228	98;98	F6UBB5;Q7Z412	.;PEX26_HUMAN	W	98	ENSP00000331106:R98W;ENSP00000382648:R98W;ENSP00000412441:R98W	ENSP00000331106:R98W	R	+	1	2	PEX26	16942701	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.630000	0.74272	2.724000	0.93272	0.491000	0.48974	CGG	C|1.000;T|0.000	0.000	weak		0.517	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		T	18562701	C	T	18562701	3	4	27	1	0	0	0	0	1	0	0	0	11746	875	31	1	298	1	PEX26	22	18562701	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		18562701	32741865	554	22242										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26164413	26164413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcatccccatgacgccccccCttgcaagacctctccccccg	5	23	2	2	rs13058434	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:26164413C>T	ENST00000407587.2	+	4	699	c.530C>T	c.(529-531)cCt>cTt	p.P177L	MYO18B_ENST00000536101.1_Missense_Mutation_p.P177L|MYO18B_ENST00000335473.7_Missense_Mutation_p.P177L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	177			P -> L (in dbSNP:rs13058434).			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						GACGCCCCCCCTTGCAAGACC	0.597													C|||	856	0.170927	0.0242	0.1916	5008	,	,		12898	0.3026		0.0775	False		,,,				2504	0.3149				p.P177L		Atlas-SNP	.											.	MYO18B	322	.	0			c.C530T						PASS	.	C	LEU/PRO	103,3791		1,101,1845	18	22	21		530	3.1	0	22	dbSNP_121	21	639,7623		29,581,3521	yes	missense	MYO18B	NM_032608.5	98	30,682,5366	TT,TC,CC		7.7342,2.6451,6.104	benign	177/2568	26164413	742,11414	1947	4131	6078	SO:0001583	missense	84700	exon4			CCCCCCCTTGCAA	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.530C>T	22.37:g.26164413C>T	ENSP00000386096:p.Pro177Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	89	7	0.0786517	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		294	0.1346153846153846	13	0.026422764227642278	59	0.16298342541436464	163	0.28496503496503495	59	0.07783641160949868	C	9.533	1.111448	0.20714	0.026451	0.077342	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86030	-2.04;-2.04;-2.06	4.14	3.08	0.35506	.	1.504210	0.04707	N	0.416900	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.14012	0.005;0.009;0.009	B;B;B	0.09377	0.002;0.004;0.004	T	0.04005	-1.0985	9	0.32370	T	0.25	.	6.5368	0.22359	0.0:0.7141:0.1814:0.1045	rs13058434;rs56971829;rs13058434	177;177;177	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	L	177	ENSP00000441229:P177L;ENSP00000334563:P177L;ENSP00000386096:P177L	ENSP00000334563:P177L	P	+	2	0	MYO18B	24494413	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.643000	0.24750	0.835000	0.34877	0.305000	0.20034	CCT	C|0.867;T|0.133	0.133	strong		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26164413	C	T	26164413	3	4	27	1	0	0	0	0	1	0	0	0	10066	681	24	2	540	2	MYO18B	22	26164413	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	7601712	26164413	25140153	555	22243										
TCN2	6948	hgsc.bcm.edu	37	chr22	31011610	31011610	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cctcatgacttcccccatgcGtggggcagaactgggaacag	12	13	1	2	rs1801198	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:31011610G>C	ENST00000215838.3	+	6	1270	c.776G>C	c.(775-777)cGt>cCt	p.R259P	TCN2_ENST00000407817.3_Missense_Mutation_p.R232P|TCN2_ENST00000405742.3_Missense_Mutation_p.R255P			P20062	TCO2_HUMAN	transcobalamin II	259			R -> P (in dbSNP:rs1801198). {ECO:0000269|PubMed:11159542, ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:1708393}.		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCCCCATGCGTGGGGCAGAA	0.572													C|||	2903	0.579673	0.7814	0.6441	5008	,	,		20269	0.4444		0.5716	False		,,,				2504	0.409				p.R259P		Atlas-SNP	.											.	TCN2	44	.	0			c.G776C	GRCh37	CM022466	TCN2	M	rs1801198	PASS	.	C	PRO/ARG,PRO/ARG	3372,1034	384.7+/-325.4	1294,784,125	67	60	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	776,695	4.1	0	22	dbSNP_89	62	4865,3735	532.5+/-382.2	1398,2069,833	yes	missense,missense	TCN2	NM_000355.3,NM_001184726.1	103,103	2692,2853,958	CC,CG,GG		43.4302,23.468,36.6677	benign,benign	259/428,232/401	31011610	8237,4769	2203	4300	6503	SO:0001583	missense	6948	exon6			CCATGCGTGGGGC		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.776G>C	22.37:g.31011610G>C	ENSP00000215838:p.Arg259Pro	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	65	4	0.0615385	NM_000355	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	1282	0.586996336996337	381	0.774390243902439	210	0.580110497237569	261	0.4562937062937063	430	0.5672823218997362	C	0.376	-0.931342	0.02359	0.76532	0.565698	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.33438	1.41;1.41;1.41	5.15	4.13	0.48395	.	1.169260	0.05803	N	0.612573	T	0.00012	0.0000	N	0.00823	-1.155	0.54753	P	1.0999999999983245E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41052	-0.9530	9	0.11485	T	0.65	-2.4631	13.2458	0.60022	0.0:0.6946:0.3054:0.0	rs1801198;rs11557598;rs57035094;rs1801198	232;255;259	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	P	259;255;232	ENSP00000215838:R259P;ENSP00000385914:R255P;ENSP00000384914:R232P	ENSP00000215838:R259P	R	+	2	0	TCN2	29341610	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.146000	0.16180	0.766000	0.33244	-0.216000	0.12614	CGT	G|0.390;C|0.610	0.610	strong		0.572	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		C	31011610	G	C	31011610	3	2	27	1	0	0	0	0	1	0	0	0	15704	1145	40	4	798	4	TCN2	22	31011610	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	4847197	31011610	20292956	556	22244										
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39381826	39381826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tcctctcccaggtgtatttcAagcctcagtaccacgcagaa	7	14	3	1	rs2076109	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:39381826A>G	ENST00000333467.3	+	3	229	c.184A>G	c.(184-186)Aag>Gag	p.K62E	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.K62E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.K62E	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	62			K -> E (in dbSNP:rs2076109). {ECO:0000269|PubMed:15461802}.		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GGTGTATTTCAAGCCTCAGTA	0.587													C|||	3211	0.641174	0.6762	0.5259	5008	,	,		13686	0.628		0.5974	False		,,,				2504	0.7342				p.K62E		Atlas-SNP	.											.	APOBEC3B	32	.	0			c.A184G						PASS	.	C	GLU/LYS	3020,1374		1091,838,268	107	92	97		184	-1.1	0	22	dbSNP_96	97	4829,3735		1532,1765,985	no	missense	APOBEC3B	NM_004900.3	56	2623,2603,1253	GG,GA,AA		43.6128,31.2699,39.4274	benign	62/383	39381826	7849,5109	2197	4282	6479	SO:0001583	missense	9582	exon3			TATTTCAAGCCTC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.184A>G	22.37:g.39381826A>G	ENSP00000327459:p.Lys62Glu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	98	9	0.0918367	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	CCDS13982.1	1367	0.6259157509157509	332	0.6747967479674797	185	0.511049723756906	379	0.6625874125874126	471	0.6213720316622692	.	5.287	0.238307	0.10023	0.687301	0.563872	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.65178	-0.14;-0.14;-0.14	0.575	-1.15	0.09709	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.25992	0.78	0.80722	P	0.0	B;B	0.18968	0.032;0.0	B;B	0.13407	0.009;0.007	T	0.48514	-0.9029	7	0.19147	T	0.46	.	.	.	.	rs2076109;rs17000716;rs17857431;rs57140217;rs2076109	62;62	B0QYD2;Q9UH17	.;ABC3B_HUMAN	E	62	ENSP00000385068:K62E;ENSP00000385060:K62E;ENSP00000327459:K62E	ENSP00000327459:K62E	K	+	1	0	APOBEC3B	37711772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.983000	0.01488	-2.941000	0.00297	-2.942000	0.00086	AAG	A|0.388;G|0.612	0.612	strong		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		G	39381826	A	G	39381826	3	3	27	1	0	0	0	0	1	0	0	0	790	131	5	2	194	2	APOBEC3B	22	39381826	Missense_Mutation	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	8370216	39381826	11922740	557	22245										
EP300	2033	hgsc.bcm.edu	37	chr22	41551039	41551039	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgacaggcactgatgccaacTttggaggcactttaccgtca	10	12	1	1	rs20552	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:41551039T>A	ENST00000263253.7	+	17	4402	c.3183T>A	c.(3181-3183)acT>acA	p.T1061T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1061					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGATGCCAACTTTGGAGGCAC	0.388			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A|||	3375	0.673922	0.5091	0.7695	5008	,	,		17967	0.8175		0.6352	False		,,,				2504	0.7209				p.T1061T		Atlas-SNP	.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300	367	.	0			c.T3183A						PASS	.	A		2246,2160	582.1+/-385.5	583,1080,540	214	200	205		3183	-2.4	0.2	22	dbSNP_67	205	5338,3262	490.3+/-372.8	1690,1958,652	no	coding-synonymous	EP300	NM_001429.3		2273,3038,1192	AA,AT,TT		37.9302,49.0241,41.6885		1061/2415	41551039	7584,5422	2203	4300	6503	SO:0001819	synonymous_variant	2033	exon17	Familial Cancer Database	Broad Thumb-Hallux syndrome	GCCAACTTTGGAG	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3183T>A	22.37:g.41551039T>A		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	117	5	0.042735	NM_001429	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																			T|0.375;A|0.625	0.625	strong		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41551039	T	A	41551039	2	1	27	1	0	0	0	0	0	0	0	1	5148	1596	56	5		5	EP300	22	41551039	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	2169213	41551039	9753527	558	22246										
CYP2D6	1565	hgsc.bcm.edu	37	chr22	42522613	42522613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	aaagctcatagggggatgggGtcaccaggaaagcaaagaca	14	7	2	1	rs1135840	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:42522613G>C	ENST00000360608.5	-	9	1571	c.1457C>G	c.(1456-1458)aCc>aGc	p.T486S	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.T486S|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.T435S|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	486			S -> T (in allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine; dbSNP:rs1135840). {ECO:0000269|PubMed:10591208, ECO:0000269|PubMed:15469410, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15768052, ECO:0000269|PubMed:8287064}.		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGGGGATGGGGTCACCAGGAA	0.577													G|||	2009	0.401158	0.3238	0.5245	5008	,	,		18454	0.2956		0.4543	False		,,,				2504	0.4724				p.T486S		Atlas-SNP	.											CYP2D6_ENST00000360608,brain,glioma,0,2	CYP2D6	104	2	0			c.C1457G	GRCh37	CM931123	CYP2D6	M	rs1135840	scavenged	.	G	SER/THR,SER/THR	1594,2790	468.1+/-355.0	356,882,954	34	31	32	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1457,1304	-2.7	0	22	dbSNP_86	32	3706,4890	501.7+/-375.5	881,1944,1473	yes	missense,missense	CYP2D6	NM_000106.4,NM_001025161.1	58,58	1237,2826,2427	CC,CG,GG		43.1131,36.3595,40.832	benign,benign	486/498,435/447	42522613	5300,7680	2192	4298	6490	SO:0001583	missense	1565	exon9			GATGGGGTCACCA	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1457C>G	22.37:g.42522613G>C	ENSP00000353820:p.Thr486Ser	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	126	3	0.0238095	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	877	0.4015567765567766	156	0.3170731707317073	188	0.5193370165745856	190	0.3321678321678322	343	0.4525065963060686	G	3.127	-0.179188	0.06380	0.363595	0.431131	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.68765	-0.35;-0.35;5.1	4.85	-2.65	0.06095	.	1.222600	0.05550	N	0.567358	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.18871	0.023;0.023;0.023	T	0.32798	-0.9893	8	0.08381	T	0.77	.	5.2556	0.15546	0.4162:0.2592:0.3246:0.0	rs1135840;rs57862116	486;435;486	C1ID54;Q6NXU8;Q6NWU0	.;.;.	S	486;486;432;435;435	ENSP00000353820:T486S;ENSP00000374620:T486S;ENSP00000351927:T435S	ENSP00000351927:T435S	T	-	2	0	CYP2D6	40852557	0.080000	0.21391	0.001000	0.08648	0.004000	0.04260	0.361000	0.20267	-0.465000	0.06953	-0.315000	0.08773	ACC	G|0.600;C|0.400	0.400	strong		0.577	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			C	42522613	G	C	42522613	3	2	27	1	0	0	0	0	1	0	0	0	4169	1261	44	4	40	4	CYP2D6	22	42522613	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	971574	42522613	8781953	559	22247										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45767391	45767391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attctttaattcttcgttgtCgttccttgattccttcactc	4	11	3	1	rs9614653	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:45767391C>T	ENST00000357450.4	-	14	2272	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	SMC1B_ENST00000404354.3_Missense_Mutation_p.R758Q	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	758			R -> Q (in dbSNP:rs9614653).		meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R758Q(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTTCGTTGTCGTTCCTTGAT	0.284													C|||	887	0.177117	0.0212	0.1499	5008	,	,		18826	0.3442		0.1173	False		,,,				2504	0.2965				p.R758Q		Atlas-SNP	.											SMC1B_ENST00000357450,rectum,carcinoma,-1,3	SMC1B	215	3	1	Substitution - Missense(1)	stomach(1)	c.G2273A						scavenged	.	C	GLN/ARG	95,3537		3,89,1724	102	93	96		2273	3.5	1	22	dbSNP_119	96	965,7177		60,845,3166	yes	missense	SMC1B	NM_148674.3	43	63,934,4890	TT,TC,CC		11.8521,2.6156,9.0029	benign	758/1236	45767391	1060,10714	1816	4071	5887	SO:0001583	missense	27127	exon14			CGTTGTCGTTCCT	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2273G>A	22.37:g.45767391C>T	ENSP00000350036:p.Arg758Gln	Somatic	176	1	0.00568182		WXS	Illumina HiSeq	Phase_I	158	6	0.0379747	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	358	0.16391941391941392	13	0.026422764227642278	61	0.1685082872928177	201	0.3513986013986014	83	0.10949868073878628	C	12.91	2.080890	0.36758	0.026156	0.118521	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.78924	-1.22;-1.09	5.66	3.51	0.40186	RecF/RecN/SMC (1);	0.228496	0.29995	N	0.010671	T	0.00012	0.0000	L	0.52905	1.665	0.49213	P	2.3799999999996047E-4	B;P;P	0.36789	0.028;0.526;0.57	B;B;B	0.30855	0.094;0.121;0.104	T	0.17289	-1.0374	9	0.18710	T	0.47	.	8.3469	0.32279	0.0:0.8198:0.0:0.1802	rs9614653;rs60966549;rs9614653	758;758;758	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	Q	758	ENSP00000350036:R758Q;ENSP00000385902:R758Q	ENSP00000350036:R758Q	R	-	2	0	SMC1B	44146055	0.855000	0.29742	0.957000	0.39632	0.373000	0.29922	1.456000	0.35201	0.610000	0.30035	0.655000	0.94253	CGA	C|0.845;T|0.155	0.155	strong		0.284	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		T	45767391	C	T	45767391	3	4	27	1	0	0	0	0	1	0	0	0	14782	884	31	1	1482	1	SMC1B	22	45767391	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	3244778	45767391	5537175	560	22248										
FBLN1	2192	hgsc.bcm.edu	37	chr22	45937241	45937241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ccatctcaacgaggagggaaCgcgctgtgttggttggtatt	14	8	1	0	rs540607391		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:45937241C>T	ENST00000327858.6	+	9	1150	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	FBLN1_ENST00000442170.2_Missense_Mutation_p.T352M|FBLN1_ENST00000348697.2_Missense_Mutation_p.T352M|FBLN1_ENST00000402984.3_Missense_Mutation_p.T390M|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000340923.5_Missense_Mutation_p.T352M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T352M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	352	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGGAGGGAACGCGCTGTGTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20118	0.0		0.0	False		,,,				2504	0.0				p.T352M		Atlas-SNP	.											.	FBLN1	143	.	0			c.C1055T						PASS	.						101	84	89					22																	45937241		2203	4300	6503	SO:0001583	missense	2192	exon9			AGGGAACGCGCTG		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1055C>T	22.37:g.45937241C>T	ENSP00000331544:p.Thr352Met	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	83	28	0.337349	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097040	0.56075	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-2.28;-3.12;-3.12	5.41	3.26	0.37387	EGF-like calcium-binding (2);	0.150392	0.64402	D	0.000014	D	0.93458	0.7913	L	0.45285	1.41	0.09310	N	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.991;0.995	D	0.87244	0.2268	10	0.66056	D	0.02	.	11.9956	0.53201	0.1373:0.7308:0.1319:0.0	.	390;352;352;352	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	M	352;390;352;352;352;352	ENSP00000262723:T352M;ENSP00000385521:T390M;ENSP00000262722:T352M;ENSP00000331544:T352M;ENSP00000393812:T352M;ENSP00000342212:T352M	ENSP00000262722:T352M	T	+	2	0	FBLN1	44315905	0.909000	0.30893	0.017000	0.16124	0.824000	0.46624	1.899000	0.39818	0.627000	0.30340	0.655000	0.94253	ACG	.	.	none		0.522	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		T	45937241	C	T	45937241	3	4	27	1	0	0	0	0	1	0	0	0	5698	536	19	1	1089	1	FBLN1	22	45937241	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	169850	45937241	5367325	561	22249										
PPARA	5465	hgsc.bcm.edu	37	chr22	46615880	46615880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gaacaaggtcaaagcccgggTcatcctctcaggaaaggcca	11	12	3	0	rs1800234	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:46615880T>C	ENST00000396000.2	+	6	945	c.680T>C	c.(679-681)gTc>gCc	p.V227A	PPARA_ENST00000262735.5_Missense_Mutation_p.V227A|PPARA_ENST00000407236.1_Missense_Mutation_p.V227A|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Missense_Mutation_p.V227A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	227			V -> A (in dbSNP:rs1800234).		behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	AAAGCCCGGGTCATCCTCTCA	0.473													T|||	85	0.0169728	0.0	0.0576	5008	,	,		17524	0.0427		0.001	False		,,,				2504	0.001				p.V227A		Atlas-SNP	.											.	PPARA	36	.	0			c.T680C	GRCh37	CM021318	PPARA	M	rs1800234	PASS	.	T	ALA/VAL,ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	78	78	78		680,680	4.2	0.9	22	dbSNP_89	78	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	PPARA	NM_001001928.2,NM_005036.4	64,64	0,8,6495	CC,CT,TT		0.0814,0.0227,0.0615	benign,benign	227/469,227/469	46615880	8,12998	2203	4300	6503	SO:0001583	missense	5465	exon6			CCCGGGTCATCCT	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.680T>C	22.37:g.46615880T>C	ENSP00000379322:p.Val227Ala	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	64	4	0.0625	NM_001001928	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	CCDS33669.1	44	0.020146520146520148	0	0.0	12	0.03314917127071823	31	0.05419580419580419	1	0.0013192612137203166	T	0.628	-0.818521	0.02776	2.27E-4	8.14E-4	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.27	4.22	0.49857	Nuclear hormone receptor, ligand-binding (1);	0.350959	0.33438	N	0.004907	T	0.06050	0.0157	N	0.02539	-0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11817	-1.0572	10	0.02654	T	1	.	6.3027	0.21121	0.0:0.0799:0.1618:0.7582	rs1800234;rs17847845;rs60636362	227;227	F1D8S4;Q07869	.;PPARA_HUMAN	A	227;227;8;227;227	ENSP00000379322:V227A;ENSP00000262735:V227A;ENSP00000385523:V227A;ENSP00000385246:V227A	ENSP00000262735:V227A	V	+	2	0	PPARA	44994544	0.701000	0.27806	0.929000	0.37066	0.602000	0.36980	0.989000	0.29629	0.807000	0.34208	0.454000	0.30748	GTC	T|0.989;C|0.011	0.011	strong		0.473	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		C	46615880	T	C	46615880	3	2	27	1	0	0	0	0	1	0	0	0	12297	1667	58	2	694	2	PPARA	22	46615880	Missense_Mutation	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	678639	46615880	4688686	562	22250										
MOV10L1	54456	hgsc.bcm.edu	37	chr22	50584201	50584201	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttccggataatcatcaccacAtgcagcagctcagggctgtt	9	12	3	0	rs2272838	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chr22:50584201A>C	ENST00000262794.5	+	19	2672	c.2589A>C	c.(2587-2589)acA>acC	p.T863T	MOV10L1_ENST00000540615.1_Silent_p.T843T|MOV10L1_ENST00000545383.1_Silent_p.T863T|MOV10L1_ENST00000395858.3_Silent_p.T863T|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	863					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.T863T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCATCACCACATGCAGCAGCT	0.582													a|||	1252	0.25	0.1233	0.3934	5008	,	,		17468	0.252		0.2376	False		,,,				2504	0.3303				p.T863T		Atlas-SNP	.											MOV10L1,NS,carcinoma,0,1	MOV10L1	238	1	1	Substitution - coding silent(1)	stomach(1)	c.A2589C						scavenged	.		,,	676,3730	287.2+/-279.2	56,564,1583	123	120	121		2589,2529,2589	-11.4	0	22	dbSNP_100	121	2081,6519	362.5+/-332.8	254,1573,2473	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	310,2137,4056	CC,CA,AA		24.1977,15.3427,21.1979	,,	863/1166,843/1166,863/1212	50584201	2757,10249	2203	4300	6503	SO:0001819	synonymous_variant	54456	exon19			CACCACATGCAGC	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2589A>C	22.37:g.50584201A>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	64	3	0.046875	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																			A|0.774;C|0.226	0.226	strong		0.582	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		C	50584201	A	C	50584201	2	2	27	1	0	0	0	0	0	0	0	1	9719	204	8	5		5	MOV10L1	22	50584201	Silent	SNP	A	TCGA-GR-A4D9-01B-11D-A31X-10	3968321	50584201	720365	563	22251										
ASMTL	8623	hgsc.bcm.edu	37	chrX	1537953	1537953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	cgcagtcagcttcgtcatgcCgtgcatggcccgcatgaacc	11	15	2	1			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:1537953C>T	ENST00000381317.3	-	10	1332	c.1300G>A	c.(1300-1302)Ggc>Agc	p.G434S	ASMTL_ENST00000381333.4_Missense_Mutation_p.G418S|ASMTL_ENST00000416733.2_Missense_Mutation_p.G358S|ASMTL_ENST00000534940.1_Missense_Mutation_p.G376S	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	434	ASMT-like.			G -> S (in Ref. 2; BAG63287). {ECO:0000305}.		cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCGTCATGCCGTGCATGGCC	0.672													c|||	600	0.119808	0.1256	0.1023	5008	,	,		15106	0.0972		0.1869	False		,,,				2504	0.0787				p.G434S		Atlas-SNP	.											.	ASMTL	56	.	0			c.G1300A						PASS	.		SER/GLY,SER/GLY,SER/GLY	596,3652		41,514,1569	37	50	46		1126,1252,1300	-3.8	0	X	dbSNP_134	46	1369,7073		125,1119,2977	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	56,56,56	166,1633,4546	TT,TC,CC		16.2165,14.0301,15.4846	benign,benign,benign	376/564,418/606,434/622	1537953	1965,10725	2124	4221	6345	SO:0001583	missense	8623	exon10			TCATGCCGTGCAT	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1300G>A	X.37:g.1537953C>T	ENSP00000370718:p.Gly434Ser	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	116	6	0.0517241	NM_004192	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	309	0.14148351648351648	76	0.15447154471544716	37	0.10220994475138122	63	0.11013986013986014	133	0.17546174142480211	c	1.729	-0.494575	0.04322	0.140301	0.162165	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	1.88	-3.76	0.04359	O-methyltransferase, family 2 (1);	0.325338	0.30901	N	0.008641	T	0.00012	0.0000	N	0.13235	0.315	0.09310	N	1	B;B;B	0.14805	0.011;0.009;0.011	B;B;B	0.18871	0.023;0.011;0.019	T	0.26360	-1.0105	10	0.10636	T	0.68	.	3.4151	0.07373	0.264:0.2992:0.0:0.4368	.	358;418;434	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	S	358;376;418;434	ENSP00000410578:G358S;ENSP00000446410:G376S;ENSP00000370734:G418S;ENSP00000370718:G434S	ENSP00000370718:G434S	G	-	1	0	ASMTL	1497953	0.996000	0.38824	0.036000	0.18154	0.045000	0.14185	0.139000	0.16036	-1.731000	0.01360	-1.717000	0.00709	GGC	C|0.858;T|0.142	0.142	strong		0.672	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1537953	C	T	1537953	3	4	27	1	0	0	0	0	1	0	0	0	1046	652	23	1	581	1	ASMTL	23	1537953	Missense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10		1537953	153732607	564	22252										
MAGEB16	139604	hgsc.bcm.edu	37	chrX	35821127	35821127	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tggccaacagtgatcctgcaCgatatgaattcctgtggggc	12	10	0	2	rs4829392	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:35821127C>T	ENST00000399989.1	+	2	1093	c.814C>T	c.(814-816)Cga>Tga	p.R272*	MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.R272*|MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.R272*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.R304*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.R272*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGATCCTGCACGATATGAATT	0.483													C|||	2342	0.620397	0.4478	0.4121	3775	,	,		15380	0.5694		0.4195	False		,,,				2504	0.4785				p.R272X		Atlas-SNP	.											.	MAGEB16	64	.	0			c.C814T						PASS	.	C	stop/ARG	2170,1655		540,782,308,305,263	38	38	38		814	-1.3	0	X	dbSNP_111	38	3581,3147		694,1206,987,528,885	yes	stop-gained	MAGEB16	NM_001099921.1		1234,1988,1295,833,1148	TT,TC,T,CC,C		46.7747,43.268,45.5036		272/325	35821127	5751,4802	2198	4300	6498	SO:0001587	stop_gained	139604	exon2			CCTGCACGATATG		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.814C>T	X.37:g.35821127C>T	ENSP00000382871:p.Arg272*	Somatic	357	0	0		WXS	Illumina HiSeq	Phase_I	320	13	0.040625	NM_001099921	A8MU30	Nonsense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	1014	0.6112115732368897	151	0.4415204678362573	102	0.4146341463414634	212	0.5792349726775956	230	0.3885135135135135	C	16.21	3.060037	0.55325	0.56732	0.532253	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.13	-1.27	0.09347	.	0.391845	0.25596	N	0.029598	.	.	.	.	.	.	0.09310	P	0.99999629397	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9248	0.19104	0.5383:0.2869:0.1748:0.0	rs4829392;rs52830693;rs4829392	.	.	.	X	272;304;272;272;272	.	ENSP00000382867:R272X	R	+	1	2	MAGEB16	35731048	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	0.056000	0.14256	-0.423000	0.07394	-0.340000	0.08031	CGA	C|0.356;0|0.042	.	strong		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			T	35821127	C	T	35821127	4	4	27	1	0	0	0	0	0	1	0	0	9174	528	19	1	816	1	MAGEB16	23	35821127	Nonsense_Mutation	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	34283174	35821127	119449433	565	22253										
IQSEC2	23096	hgsc.bcm.edu	37	chrX	53280102	53280102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ggcactggtggaggaactggCgggagaggggctggcgccca	21	9	0	1	rs200411197		TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:53280102C>T	ENST00000375368.5	-	4	1826	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	IQSEC2_ENST00000396435.3_Silent_p.P552P|IQSEC2_ENST00000375365.2_Silent_p.P347P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	542	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GAGGAACTGGCGGGAGAGGGG	0.672													c|||	1	0.000264901	0.0	0.0	3775	,	,		10478	0.001		0.0	False		,,,				2504	0.0				p.P552P		Atlas-SNP	.											.	IQSEC2	195	.	0			c.G1656A						PASS	.						20	24	23					X																	53280102		2200	4283	6483	SO:0001819	synonymous_variant	23096	exon5			AACTGGCGGGAGA	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1626G>A	X.37:g.53280102C>T		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	120	7	0.0583333	NM_001111125	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37																																																																																				C|1.000;T|0.000	0.000	strong		0.672	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53280102	C	T	53280102	2	4	27	1	0	0	0	0	0	0	0	1	7818	755	27	1		1	IQSEC2	23	53280102	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	17458975	53280102	101990458	566	22254										
MAGED2	10916	hgsc.bcm.edu	37	chrX	54838077	54838077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	attgaacgagcaggctattcCttggagaaggtgaaggggca	15	6	0	3	rs2071932	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:54838077C>T	ENST00000375068.1	+	6	1214	c.981C>T	c.(979-981)tcC>tcT	p.S327S	MAGED2_ENST00000218439.4_Silent_p.S327S|MAGED2_ENST00000375053.2_Silent_p.S327S|MAGED2_ENST00000375058.1_Silent_p.S327S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Silent_p.S242S|MAGED2_ENST00000396224.1_Silent_p.S327S|MAGED2_ENST00000375060.1_Silent_p.S242S|MAGED2_ENST00000347546.4_Silent_p.S309S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	327	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CAGGCTATTCCTTGGAGAAGG	0.502													C|||	1622	0.429669	0.2943	0.2997	3775	,	,		16373	0.4494		0.2992	False		,,,				2504	0.2771				p.S327S		Atlas-SNP	.											.	MAGED2	74	.	0			c.C981T						PASS	.	C	,,	1381,2454		205,769,202,658,369	57	47	50		981,981,981	0.8	1	X	dbSNP_96	50	2273,4455		253,1099,668,1076,1204	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGED2	NM_014599.4,NM_177433.1,NM_201222.1	,,	458,1868,870,1734,1573	TT,TC,T,CC,C		33.7842,36.0104,34.5924	,,	327/607,327/607,327/607	54838077	3654,6909	2203	4300	6503	SO:0001819	synonymous_variant	10916	exon6			CTATTCCTTGGAG	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.981C>T	X.37:g.54838077C>T		Somatic	247	0	0		WXS	Illumina HiSeq	Phase_I	217	10	0.046083	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	CCDS14362.1																																																																																			C|0.586;0|0.015	.	strong		0.502	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		T	54838077	C	T	54838077	2	4	27	1	0	0	0	0	0	0	0	1	9184	668	24	2		2	MAGED2	23	54838077	Silent	SNP	C	TCGA-GR-A4D9-01B-11D-A31X-10	1557975	54838077	100432483	567	22255										
BHLHB9	80823	hgsc.bcm.edu	37	chrX	102004884	102004884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	gcaaaatggaatgctatatgGattctgaggaatttgaaaaa	10	3	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:102004884G>T	ENST00000372735.1	+	4	1546	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	BHLHB9_ENST00000447531.1_Missense_Mutation_p.D321Y|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D321Y|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D321Y|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D321Y			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	321					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGCTATATGGATTCTGAGGA	0.383																																					p.D321Y		Atlas-SNP	.											.	BHLHB9	60	.	0			c.G961T						PASS	.						83	79	80					X																	102004884		2203	4300	6503	SO:0001583	missense	80823	exon2			TATATGGATTCTG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.961G>T	X.37:g.102004884G>T	ENSP00000361820:p.Asp321Tyr	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	154	38	0.246753	NM_001142530	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516286	0.27123	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.6	0.444	0.16592	Armadillo-type fold (1);	0.425883	0.20121	N	0.098805	T	0.28532	0.0706	L	0.38175	1.15	0.21445	N	0.999684	P	0.43231	0.801	P	0.49999	0.628	T	0.11421	-1.0588	9	.	.	.	-7.4256	6.7343	0.23401	0.5217:0.0:0.4783:0.0	.	321	Q6PI77	BHLH9_HUMAN	Y	321	ENSP00000403226:D321Y;ENSP00000354675:D321Y;ENSP00000405893:D321Y;ENSP00000391722:D321Y;ENSP00000361820:D321Y	.	D	+	1	0	BHLHB9	101891540	0.980000	0.34600	0.331000	0.25455	0.649000	0.38597	0.014000	0.13333	-0.059000	0.13154	-0.269000	0.10298	GAT	.	.	none		0.383	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102004884	G	T	102004884	3	4	27	1	0	0	0	0	1	0	0	0	1420	1174	41	4	963	4	BHLHB9	23	102004884	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	47166807	102004884	53265676	568	22256										
SLITRK2	84631	hgsc.bcm.edu	37	chrX	144905286	144905286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	tatgtttgatggactgcagaGcttgcaatatctctatttag	9	6	1	2			TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:144905286G>A	ENST00000370490.1	+	1	5598	c.1343G>A	c.(1342-1344)aGc>aAc	p.S448N	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S448N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S448N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S448N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S448N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	448					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S448I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTGCAGAGCTTGCAATAT	0.393																																					p.S448N		Atlas-SNP	.											.	SLITRK2	221	.	1	Substitution - Missense(1)	lung(1)	c.G1343A						PASS	.						137	142	140					X																	144905286		2203	4300	6503	SO:0001583	missense	84631	exon5			TGCAGAGCTTGCA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1343G>A	X.37:g.144905286G>A	ENSP00000359521:p.Ser448Asn	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	120	37	0.308333	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344294	0.24339	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.5	5.5	0.81552	.	0.207561	0.46758	D	0.000261	T	0.39545	0.1082	N	0.05078	-0.115	0.50313	D	0.999865	P	0.40066	0.701	P	0.44946	0.465	T	0.39961	-0.9588	10	0.02654	T	1	-11.1755	15.6243	0.76840	0.0:0.0:1.0:0.0	.	448	Q9H156	SLIK2_HUMAN	N	448	ENSP00000334374:S448N;ENSP00000411681:S448N;ENSP00000359521:S448N;ENSP00000397015:S448N;ENSP00000407347:S448N;ENSP00000412010:S448N	ENSP00000334374:S448N	S	+	2	0	SLITRK2	144712978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.233000	0.72320	2.285000	0.76669	0.600000	0.82982	AGC	.	.	none		0.393	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144905286	G	A	144905286	3	1	27	1	0	0	0	0	1	0	0	0	14743	971	34	2	1345	2	SLITRK2	23	144905286	Missense_Mutation	SNP	G	TCGA-GR-A4D9-01B-11D-A31X-10	42900402	144905286	10365274	569	22257										
F8	2157	hgsc.bcm.edu	37	chrX	154158201	154158201	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0446428571428571	25	1	0.629756013197105	1.52732405726961	0.408278184140253	1	1	0	ttttcttcctccccttttttTgagaaatgagctgtgtgttt	7	8	1	2	rs1800292	byFrequency	TCGA-GR-A4D9-01B-11D-A31X-10	TCGA-GR-A4D9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	2628dbf8-af39-40c7-8cac-dc5f1d900038	a894d227-2be0-4820-b8b2-0e673e33fb95	g.chrX:154158201T>G	ENST00000360256.4	-	14	4064	c.3864A>C	c.(3862-3864)tcA>tcC	p.S1288S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1288	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCCTTTTTTTGAGAAATGAG	0.378													T|||	606	0.16053	0.0499	0.1484	3775	,	,		13873	0.1359		0.0527	False		,,,				2504	0.2526				p.S1288S		Atlas-SNP	.											.	F8	646	.	0			c.A3864C	GRCh37	CI992004	F8	I	rs1800292	PASS	.	T		238,3597		7,188,36,1437,535	164	141	149	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3864	2.5	0.1	X	dbSNP_89	149	608,6119		22,381,183,2025,1688	no	coding-synonymous	F8	NM_000132.3		29,569,219,3462,2223	GG,GT,G,TT,T		9.0382,6.206,8.0098		1288/2352	154158201	846,9716	2203	4299	6502	SO:0001819	synonymous_variant	2157	exon14			TTTTTTTGAGAAA	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3864A>C	X.37:g.154158201T>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	119	5	0.0420168	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			T|0.888;0|0.022	.	strong		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			G	154158201	T	G	154158201	2	3	27	1	0	0	0	0	0	0	0	1	5350	1799	63	5		5	F8	23	154158201	Silent	SNP	T	TCGA-GR-A4D9-01B-11D-A31X-10	9252915	154158201	1112359	570	22258										
DNAJC11	55735	hgsc.bcm.edu	37	chr1	6700045	6700045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	agaggccccacggtggcataGaacatggcgctgggcagaag	16	10	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:6700045G>A	ENST00000377577.5	-	11	1293	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000542246.1_Silent_p.F352F|DNAJC11_ENST00000377573.5_Silent_p.F300F|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	390						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTGGCATAGAACATGGCGC	0.483																																					p.F390F		Atlas-SNP	.											.	DNAJC11	93	.	0			c.C1170T						PASS	.						79	74	76					1																	6700045		2203	4300	6503	SO:0001819	synonymous_variant	55735	exon11			GGCATAGAACATG	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1170C>T	1.37:g.6700045G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	CCDS87.1																																																																																			.	.	none		0.483	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		A	6700045	G	A	6700045	2	1	28	1	0	0	0	0	0	0	0	1	4630	933	33	2		2	DNAJC11	1	6700045	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10		6700045	242550576	1	22259										
SLC2A5	6518	hgsc.bcm.edu	37	chr1	9097845	9097845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaagctgtacgggccgaggcCctcctgcgggaagaggggca	18	11	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:9097845C>T	ENST00000377424.4	-	12	1485	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	SLC2A5_ENST00000535586.1_Missense_Mutation_p.G321S|SLC2A5_ENST00000536305.1_Missense_Mutation_p.G377S	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	436					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGAGGCCCTCCTGCGGG	0.617																																					p.G436S		Atlas-SNP	.											.	SLC2A5	77	.	0			c.G1306A						PASS	.						62	66	65					1																	9097845		2203	4300	6503	SO:0001583	missense	6518	exon12			CGAGGCCCTCCTG	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1306G>A	1.37:g.9097845C>T	ENSP00000366641:p.Gly436Ser	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	36	11	0.305556	NM_003039	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926514	0.34002	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.72835	-0.69;-0.69;-0.69	5.35	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.103605	0.64402	D	0.000003	T	0.57989	0.2091	L	0.28014	0.82	0.54753	D	0.999985	B;P;B	0.34815	0.362;0.47;0.399	B;B;B	0.38755	0.11;0.11;0.281	T	0.52056	-0.8626	10	0.14252	T	0.57	.	12.5259	0.56085	0.167:0.833:0.0:0.0	.	392;377;436	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	S	436;419;377;321	ENSP00000366641:G436S;ENSP00000440688:G377S;ENSP00000442744:G321S	ENSP00000366641:G436S	G	-	1	0	SLC2A5	9020432	0.001000	0.12720	0.380000	0.26093	0.103000	0.19146	1.019000	0.30014	1.311000	0.45024	0.655000	0.94253	GGC	.	.	none		0.617	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		T	9097845	C	T	9097845	3	4	28	1	0	0	0	0	1	0	0	0	14548	623	22	2	203	2	SLC2A5	1	9097845	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	2397800	9097845	240152776	2	22260										
UBR4	23352	hgsc.bcm.edu	37	chr1	19491323	19491323	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaacaatgtatgtggtcagtAactgcagcagctgccggttc	12	9	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:19491323A>T	ENST00000375254.3	-	32	4508	c.4481T>A	c.(4480-4482)tTa>tAa	p.L1494*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.L1494*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.L1494*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.L1494*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1494					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTGGTCAGTAACTGCAGCAG	0.493																																					p.L1494X		Atlas-SNP	.											.	UBR4	415	.	0			c.T4481A						PASS	.						116	114	114					1																	19491323		2203	4300	6503	SO:0001587	stop_gained	23352	exon32			GTCAGTAACTGCA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4481T>A	1.37:g.19491323A>T	ENSP00000364403:p.Leu1494*	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	64	16	0.25	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	31	5.095569	0.94197	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.99	5.99	0.97316	.	0.081308	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	.	.	.	X	1494;1494;1494;1494;204;710	.	ENSP00000364365:L1494X	L	-	2	0	UBR4	19363910	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.871000	0.75531	2.291000	0.77112	0.533000	0.62120	TTA	.	.	none		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19491323	A	T	19491323	4	4	28	1	0	0	0	0	0	1	0	0	16901	372	13	5	11370	5	UBR4	1	19491323	Nonsense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	10393478	19491323	229759298	3	22261										
KIAA0754	643314	hgsc.bcm.edu	37	chr1	39877011	39877011	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gatgagaagaacagcctggcAgatatttttgaagaaagaga	12	4	0	6			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:39877011A>C	ENST00000530275.1	+	1	861	c.666A>C	c.(664-666)gcA>gcC	p.A222A	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	222										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGCCTGGCAGATATTTTTG	0.473											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A358A		Atlas-SNP	.											.	KIAA0754	93	.	0			c.A1074C						PASS	.						123	126	125					1																	39877011		1964	4158	6122	SO:0001819	synonymous_variant	643314	exon1			CCTGGCAGATATT			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.666A>C	1.37:g.39877011A>C		Somatic	190	0	0	889	WXS	Illumina HiSeq	Phase_I	161	36	0.223602	NM_015038	E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37																																																																																				.	.	none		0.473	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		C	39877011	A	C	39877011	2	2	28	1	0	0	0	0	0	0	0	1	8192	175	7	5		5	KIAA0754	1	39877011	Silent	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	20385688	39877011	209373610	4	22262										
LPHN2	23266	hgsc.bcm.edu	37	chr1	82421682	82421682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cgatacattggaagaaggagCttttgtcctagctgacaatc	10	8	0	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:82421682C>A	ENST00000370728.1	+	13	2588	c.1943C>A	c.(1942-1944)gCt>gAt	p.A648D	LPHN2_ENST00000370713.1_Missense_Mutation_p.A635D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A635D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A648D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A573D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A648D|LPHN2_ENST00000271029.4_Missense_Mutation_p.A648D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A635D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A635D|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.A648D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A635D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A648D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A648D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A635D			O95490	LPHN2_HUMAN	latrophilin 2	648					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAAGAAGGAGCTTTTGTCCTA	0.378																																					p.A635D		Atlas-SNP	.											.	LPHN2	464	.	0			c.C1904A						PASS	.						114	106	109					1																	82421682		2203	4300	6503	SO:0001583	missense	23266	exon9			AAGGAGCTTTTGT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1943C>A	1.37:g.82421682C>A	ENSP00000359763:p.Ala648Asp	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	114	25	0.219298	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.936727|4.936727	0.92458|0.92458	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79493|0.79493	0.4455|0.4455	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.999;1.0|.	T|T	0.80214|0.80214	-0.1475|-0.1475	10|5	0.87932|.	D|.	0|.	.|.	19.3323|19.3323	0.94295|0.94295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	635;635;635|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	D|I	573;648;648;648;648;635;635;635;635;635;648;635;648;648|516	ENSP00000359756:A573D;ENSP00000359763:A648D;ENSP00000359765:A648D;ENSP00000359762:A648D;ENSP00000359760:A648D;ENSP00000359758:A635D;ENSP00000353006:A635D;ENSP00000359750:A635D;ENSP00000359748:A635D;ENSP00000322270:A635D;ENSP00000359752:A648D;ENSP00000378344:A635D;ENSP00000271029:A648D;ENSP00000337306:A648D|.	ENSP00000271029:A648D|.	A|L	+|+	2|1	0|0	LPHN2|LPHN2	82194270|82194270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.568000|2.568000	0.86640|0.86640	0.467000|0.467000	0.42956|0.42956	GCT|CTT	.	.	none		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		A	82421682	C	A	82421682	3	1	28	1	0	0	0	0	1	0	0	0	8916	797	28	4	1934	4	LPHN2	1	82421682	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	42544671	82421682	166828939	5	22263										
SNX27	81609	hgsc.bcm.edu	37	chr1	151630819	151630819	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttgccaactttacatttcctCgactcccagggaagtggcca	8	13	0	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:151630819C>T	ENST00000458013.2	+	3	772	c.652C>T	c.(652-654)Cga>Tga	p.R218*	SNX27_ENST00000368843.3_Nonsense_Mutation_p.R218*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R125*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	218	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACATTTCCTCGACTCCCAGG	0.458																																					p.R218X	Colon(46;291 966 40145 41237 41888)	Atlas-SNP	.											.	SNX27	44	.	0			c.C652T						PASS	.						145	141	143					1																	151630819		2203	4300	6503	SO:0001587	stop_gained	81609	exon3			TTTCCTCGACTCC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.652C>T	1.37:g.151630819C>T	ENSP00000400333:p.Arg218*	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	147	24	0.163265	NM_030918	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	C	37	6.556807	0.97663	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.81	5.81	0.92471	.	0.058920	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	18.6433	0.91402	0.0:1.0:0.0:0.0	.	.	.	.	X	218;218;125	.	ENSP00000357831:R125X	R	+	1	2	SNX27	149897443	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.816000	0.62642	2.747000	0.94245	0.650000	0.86243	CGA	.	.	none		0.458	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		T	151630819	C	T	151630819	4	4	28	1	0	0	0	0	0	1	0	0	14897	876	31	1	662	1	SNX27	1	151630819	Nonsense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	69209137	151630819	97619802	6	22264										
TCHH	7062	hgsc.bcm.edu	37	chr1	152084202	152084203	+	In_Frame_Ins	INS	-	-	CGCCTCTCCTGCTGCTCG													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cgcgcctctcctgctgctcgINScgcctctcctcctcctcgag							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:152084202_152084203insCGCCTCTCCTGCTGCTCG	ENST00000368804.1	-	2	1489_1490	c.1490_1491insCGAGCAGCAGGAGAGGCG	c.(1489-1491)cgc>cgCGAGCAGCAGGAGAGGCGc	p.497_497R>REQQERR		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	497	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTGCTCGCGCCTCTCCTC	0.668																																					p.R497delinsREQQERR		Atlas-Indel	.											.	TCHH	275	.	0			c.1491_1492insCGAGCAGCAGGAGAGGCG						PASS	.																																			SO:0001652	inframe_insertion	7062	exon3			.	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1473_1490dupCGAGCAGCAGGAGAGGCG	1.37:g.152084202_152084203insCGCCTCTCCTGCTGCTCG	Exception_encountered	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	94	11	0.117021	NM_007113	Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	CCDS41396.1																																																																																			.	.	none		0.668	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		CGCCTCTCCTGCTGCTCG	152084203	-	CGCCTCTCCTGCTGCTCG	152084202	7	5	28	1	0	1	1	0	0	0	0	0	15697	1074	38	0	4344	0	TCHH	1	152084202	In_Frame_Ins	INS	-	TCGA-GS-A9TQ-01A-11D-A382-10	453383	152084202	97166419	7	22265										
FLG	2312	hgsc.bcm.edu	37	chr1	152285878	152285878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctcgtgcctgctcgtggtgcGatccttgtcttcctccagtg	11	14	1	0	rs139321371		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:152285878G>A	ENST00000368799.1	-	3	1519	c.1484C>T	c.(1483-1485)tCg>tTg	p.S495L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	495	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGTGGTGCGATCCTTGTCT	0.607									Ichthyosis																												p.S495L		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.C1484T						PASS	.	G	LEU/SER	0,4406		0,0,2203	278	260	266		1484	-2.5	0	1	dbSNP_134	266	1,8599		0,1,4299	no	missense	FLG	NM_002016.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	495/4062	152285878	1,13005	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGGTGCGATCCTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1484C>T	1.37:g.152285878G>A	ENSP00000357789:p.Ser495Leu	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	180	21	0.116667	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.99	1.506078	0.26949	0.0	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03745	3.82	2.94	-2.49	0.06403	.	.	.	.	.	T	0.05364	0.0142	M	0.80028	2.48	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.12528	-1.0544	9	0.31617	T	0.26	.	5.7028	0.17891	0.0:0.3484:0.2968:0.3548	.	495	P20930	FILA_HUMAN	L	495;27	ENSP00000357789:S495L	ENSP00000357789:S495L	S	-	2	0	FLG	150552502	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.842000	0.00737	-0.654000	0.05394	0.505000	0.49811	TCG	G|1.000;A|0.000	0.000	weak		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285878	G	A	152285878	3	1	28	1	0	0	0	0	1	0	0	0	5922	1059	37	1	10705	1	FLG	1	152285878	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	201676	152285878	96964743	8	22266										
ARHGEF11	9826	hgsc.bcm.edu	37	chr1	156931508	156931508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	atattccagatgtctttcccCaagcttcgggaatccttggg	9	11	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:156931508C>T	ENST00000361409.2	-	13	1822	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	ARHGEF11_ENST00000368194.3_Silent_p.L400L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	360	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCTTTCCCCAAGCTTCGGG	0.443																																					p.L400L		Atlas-SNP	.											.	ARHGEF11	168	.	0			c.G1200A						PASS	.						83	90	88					1																	156931508		2203	4300	6503	SO:0001819	synonymous_variant	9826	exon14			TTTCCCCAAGCTT	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1080G>A	1.37:g.156931508C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	102	26	0.254902	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																			.	.	none		0.443	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156931508	C	T	156931508	2	4	28	1	0	0	0	0	0	0	0	1	896	593	21	2		2	ARHGEF11	1	156931508	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	4645630	156931508	92319113	9	22267										
PLEKHA6	22874	hgsc.bcm.edu	37	chr1	204199657	204199657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ccgcattcggtcaatctgctCctccacgctcatcttgacct	6	17	4	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:204199657C>T	ENST00000272203.3	-	18	2783	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E843K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	823										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCAATCTGCTCCTCCACGCTC	0.647																																					p.E823K		Atlas-SNP	.											.	PLEKHA6	115	.	0			c.G2467A						PASS	.						40	33	35					1																	204199657		2203	4300	6503	SO:0001583	missense	22874	exon18			TCTGCTCCTCCAC	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2467G>A	1.37:g.204199657C>T	ENSP00000272203:p.Glu823Lys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	123	18	0.146341	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119049	0.94385	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.25912	1.77;2.24	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.82323	2.585	0.58432	D	0.999999	D	0.58268	0.982	D	0.67548	0.952	T	0.62229	-0.6898	10	0.87932	D	0	-30.4922	18.4131	0.90559	0.0:1.0:0.0:0.0	.	823	Q9Y2H5	PKHA6_HUMAN	K	823;843	ENSP00000272203:E823K;ENSP00000402046:E843K	ENSP00000272203:E823K	E	-	1	0	PLEKHA6	202466280	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.028000	0.76470	2.435000	0.82474	0.462000	0.41574	GAG	.	.	none		0.647	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204199657	C	T	204199657	3	4	28	1	0	0	0	0	1	0	0	0	12060	864	30	2	699	2	PLEKHA6	1	204199657	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	47268149	204199657	45050964	10	22268										
FLVCR1	28982	hgsc.bcm.edu	37	chr1	213061854	213061854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cttcatgactggttacctccCtttgggttttgaatttgctg	9	9	1	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:213061854C>A	ENST00000366971.4	+	7	1529	c.1331C>A	c.(1330-1332)cCt>cAt	p.P444H	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	444					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GGTTACCTCCCTTTGGGTTTT	0.393																																					p.P444H	Esophageal Squamous(199;2235 2952 19233 26256)	Atlas-SNP	.											.	FLVCR1	31	.	0			c.C1331A						PASS	.						201	185	190					1																	213061854		2203	4300	6503	SO:0001583	missense	28982	exon7			ACCTCCCTTTGGG	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1331C>A	1.37:g.213061854C>A	ENSP00000355938:p.Pro444His	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	248	38	0.153226	NM_014053	Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.887770|4.887770	0.91814|0.91814	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.61627	.|0.09	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84261|0.84261	0.5433|0.5433	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.88324|0.88324	0.2964|0.2964	5|10	.|0.87932	.|D	.|0	-24.5348|-24.5348	19.5996|19.5996	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|444	.|Q9Y5Y0	.|FLVC1_HUMAN	I|H	243|444	.|ENSP00000355938:P444H	.|ENSP00000355938:P444H	L|P	+|+	1|2	0|0	FLVCR1|FLVCR1	211128477|211128477	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.994000|0.994000	0.84299|0.84299	7.335000|7.335000	0.79234|0.79234	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	CTT|CCT	.	.	none		0.393	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		A	213061854	C	A	213061854	3	1	28	1	0	0	0	0	1	0	0	0	5945	681	24	4	1357	4	FLVCR1	1	213061854	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	8862197	213061854	36188767	11	22269										
MIA3	375056	hgsc.bcm.edu	37	chr1	222805652	222805652	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tcacagaagccaaatactgaGaaagacctggacccaggtaa	9	10	1	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:222805652G>A	ENST00000344922.5	+	5	3340	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	MIA3_ENST00000344441.6_Silent_p.E1105E|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1105					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAAATACTGAGAAAGACCTGG	0.453																																					p.E1105E		Atlas-SNP	.											.	MIA3	167	.	0			c.G3315A						PASS	.						90	86	87					1																	222805652		1864	4082	5946	SO:0001819	synonymous_variant	375056	exon5			TACTGAGAAAGAC		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3315G>A	1.37:g.222805652G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	108	20	0.185185	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	3.427	-0.116990	0.06838	.	.	ENSG00000154305	ENST00000354906	T	0.19250	2.16	3.81	2.89	0.33648	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.22305	N	0.999213	.	.	.	.	.	.	T	0.13150	-1.0520	6	0.41790	T	0.15	.	8.8823	0.35382	0.0:0.0:0.7777:0.2223	.	.	.	.	K	688	ENSP00000355062:E688K	ENSP00000355062:E688K	E	+	1	0	MIA3	220872275	0.016000	0.18221	0.038000	0.18304	0.226000	0.24999	1.531000	0.36018	1.166000	0.42689	0.557000	0.71058	GAA	.	.	none		0.453	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		A	222805652	G	A	222805652	2	1	28	1	0	0	0	0	0	0	0	1	9565	933	33	2		2	MIA3	1	222805652	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	9743798	222805652	26444969	12	22270										
B3GALNT2	148789	hgsc.bcm.edu	37	chr1	235647809	235647809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gtgtcttcggacagactgaaCgcttcaatttcctgattcaa	8	10	3	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:235647809C>T	ENST00000366600.3	-	4	612	c.384G>A	c.(382-384)gcG>gcA	p.A128A	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Silent_p.A169A	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	128					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ACAGACTGAACGCTTCAATTT	0.423																																					p.A128A		Atlas-SNP	.											.	B3GALNT2	36	.	0			c.G384A						PASS	.						138	137	138					1																	235647809		2203	4300	6503	SO:0001819	synonymous_variant	148789	exon4			ACTGAACGCTTCA	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.384G>A	1.37:g.235647809C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	14	0.229508	NM_152490	Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	CCDS1606.1																																																																																			.	.	none		0.423	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		T	235647809	C	T	235647809	2	4	28	1	0	0	0	0	0	0	0	1	1246	523	19	1		1	B3GALNT2	1	235647809	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	12842157	235647809	13602812	13	22271										
RYR2	6262	hgsc.bcm.edu	37	chr1	237819151	237819151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aagaacttttcaaactggcaCtgccttgcctgagtgcagtt	9	10	1	2	rs370333448		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:237819151C>A	ENST00000366574.2	+	53	8313	c.7996C>A	c.(7996-7998)Ctg>Atg	p.L2666M	RYR2_ENST00000542537.1_Missense_Mutation_p.L2650M|RYR2_ENST00000360064.6_Missense_Mutation_p.L2664M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2666	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAACTGGCACTGCCTTGCCT	0.408																																					p.L2666M		Atlas-SNP	.											.	RYR2	1273	.	0			c.C7996A						PASS	.						43	42	42					1																	237819151		1837	4092	5929	SO:0001583	missense	6262	exon53			CTGGCACTGCCTT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7996C>A	1.37:g.237819151C>A	ENSP00000355533:p.Leu2666Met	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	242	83	0.342975	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391987	0.25118	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95069	-3.6;-3.6;-3.6	5.95	4.86	0.63082	.	0.000000	0.47093	D	0.000249	D	0.84995	0.5596	N	0.12527	0.23	0.80722	D	1	B	0.31599	0.33	B	0.28709	0.093	T	0.80443	-0.1380	10	0.32370	T	0.25	-11.7878	5.4522	0.16570	0.2052:0.6592:0.0:0.1356	.	2666	Q92736	RYR2_HUMAN	M	2666;2664;2650	ENSP00000355533:L2666M;ENSP00000353174:L2664M;ENSP00000443798:L2650M	ENSP00000353174:L2664M	L	+	1	2	RYR2	235885774	0.234000	0.23783	1.000000	0.80357	0.998000	0.95712	0.729000	0.26028	2.826000	0.97356	0.563000	0.77884	CTG	.	.	none		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237819151	C	A	237819151	3	1	28	1	0	0	0	0	1	0	0	0	13769	564	20	4	8206	4	RYR2	1	237819151	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	2171342	237819151	11431470	14	22272										
WDR64	128025	hgsc.bcm.edu	37	chr1	241842832	241842832	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	attacctcttgcagctgaaaCgaatcgtagccacaaccgaa	7	12	1	1	rs41304038	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:241842832C>T	ENST00000366552.2	+	5	736	c.529C>T	c.(529-531)Cga>Tga	p.R177*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.R177*|WDR64_ENST00000461971.1_3'UTR	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	177										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCAGCTGAAACGAATCGTAGC	0.438													C|||	4	0.000798722	0.0	0.0029	5008	,	,		19694	0.0		0.002	False		,,,				2504	0.0				p.R177X		Atlas-SNP	.											WDR64_ENST00000366552,NS,carcinoma,-1,1	WDR64	234	1	0			c.C529T						PASS	.	C	stop/ARG	0,1384		0,0,692	87	78	81		529	3.7	1	1	dbSNP_127	81	2,3180		0,2,1589	yes	stop-gained	WDR64	NM_144625.4		0,2,2281	TT,TC,CC		0.0629,0.0,0.0438		177/1082	241842832	2,4564	692	1591	2283	SO:0001587	stop_gained	128025	exon5			CTGAAACGAATCG	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.529C>T	1.37:g.241842832C>T	ENSP00000355510:p.Arg177*	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	164	21	0.128049	NM_144625	B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	ENST00000366552.2	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	38	6.963864	0.97967	0.0	6.29E-4	ENSG00000162843	ENST00000366552;ENST00000437684	.	.	.	5.72	3.72	0.42706	.	0.150508	0.30850	N	0.008744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4949	7.5122	0.27579	0.314:0.6081:0.0:0.0779	rs41304038	.	.	.	X	177	.	ENSP00000355510:R177X	R	+	1	2	WDR64	239909455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.258000	0.32944	1.386000	0.46466	0.655000	0.94253	CGA	C|1.000;T|0.000	0.000	strong		0.438	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		T	241842832	C	T	241842832	4	4	28	1	0	0	0	0	0	1	0	0	17312	528	19	1	547	1	WDR64	1	241842832	Nonsense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	4023681	241842832	7407789	15	22273										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616329	248616329	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gataccatctacatctgtatCactgtccccaagatgctcca	5	14	3	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr1:248616329C>T	ENST00000342927.3	+	1	253	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACATCTGTATCACTGTCCCCA	0.522																																					p.I77I		Atlas-SNP	.											.	OR2T2	73	.	0			c.C231T						PASS	.						130	147	141					1																	248616329		2203	4297	6500	SO:0001819	synonymous_variant	401992	exon1			CTGTATCACTGTC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.231C>T	1.37:g.248616329C>T		Somatic	674	0	0		WXS	Illumina HiSeq	Phase_I	689	44	0.0638607	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			.	.	none		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616329	C	T	248616329	2	4	28	1	0	0	0	0	0	0	0	1	11020	816	29	2		2	OR2T2	1	248616329	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	6773497	248616329	634292	16	22274										
MYT1L	23040	hgsc.bcm.edu	37	chr2	1796099	1796099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gctcagtcacttaccatgtgCggcagctggatgttagccag	12	11	2	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr2:1796099C>T	ENST00000399161.2	-	24	4161	c.3414G>A	c.(3412-3414)ccG>ccA	p.P1138P	MYT1L_ENST00000407844.1_Silent_p.P136P|MYT1L_ENST00000428368.2_Silent_p.P1136P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1138					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTACCATGTGCGGCAGCTGGA	0.517																																					p.P1136P		Atlas-SNP	.											MYT1L,trunk,malignant_melanoma,-1,1	MYT1L	241	1	0			c.G3408A						PASS	.						59	61	61					2																	1796099		2086	4227	6313	SO:0001819	synonymous_variant	23040	exon24			CATGTGCGGCAGC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3414G>A	2.37:g.1796099C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	83	19	0.228916	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																				.	.	none		0.517	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1796099	C	T	1796099	2	4	28	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYT1L	2	1796099	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10		1796099	241403274	17	22275										
KIF3C	3797	hgsc.bcm.edu	37	chr2	26204558	26204558	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gtctatcaggggcctcacggTttcgtcatacaggtcggcct	12	12	4	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr2:26204558T>A	ENST00000264712.3	-	1	808	c.229A>T	c.(229-231)Acc>Tcc	p.T77S	KIF3C_ENST00000405914.1_Missense_Mutation_p.T77S	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	77	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			TVR -> RE (in Ref. 1; AAC05302). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCACGGTTTCGTCATAC	0.627																																					p.T77S		Atlas-SNP	.											.	KIF3C	79	.	0			c.A229T						PASS	.						81	79	80					2																	26204558		2203	4300	6503	SO:0001583	missense	3797	exon1			TCACGGTTTCGTC		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.229A>T	2.37:g.26204558T>A	ENSP00000264712:p.Thr77Ser	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	75	25	0.333333	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344081	0.41498	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.44083	0.93;0.93	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.150477	0.56097	D	0.000029	T	0.34483	0.0899	N	0.11255	0.115	0.50632	D	0.999887	P;B	0.34724	0.465;0.232	P;B	0.45232	0.474;0.145	T	0.32402	-0.9908	10	0.37606	T	0.19	.	13.7774	0.63062	0.0:0.0:0.0:1.0	.	77;77	B7ZM25;O14782	.;KIF3C_HUMAN	S	77	ENSP00000264712:T77S;ENSP00000385030:T77S	ENSP00000264712:T77S	T	-	1	0	KIF3C	26058062	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	3.312000	0.51927	2.131000	0.65755	0.460000	0.39030	ACC	.	.	none		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			A	26204558	T	A	26204558	3	1	28	1	0	0	0	0	1	0	0	0	8302	1725	60	5	2184	5	KIF3C	2	26204558	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	24408459	26204558	216994815	18	22276										
BIRC6	57448	hgsc.bcm.edu	37	chr2	32773075	32773075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaggaacatgttacctgcctTctgcaggtatatttgtaaac	9	8	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr2:32773075T>C	ENST00000421745.2	+	64	13103	c.12969T>C	c.(12967-12969)ctT>ctC	p.L4323L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4323					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)					TTACCTGCCTTCTGCAGGTAT	0.378																																					p.L4323L	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.T12969C						PASS	.						60	57	58					2																	32773075		2203	4300	6503	SO:0001819	synonymous_variant	57448	exon64			CTGCCTTCTGCAG	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.12969T>C	2.37:g.32773075T>C		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	115	47	0.408696	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																			.	.	none		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32773075	T	C	32773075	2	2	28	1	0	0	0	0	0	0	0	1	1438	1770	62	2		2	BIRC6	2	32773075	Silent	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	6568517	32773075	210426298	19	22277										
FANCD2	2177	hgsc.bcm.edu	37	chr3	10094085	10094085	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ccacagggcattttagattaTctggataacatatcccctca	6	11	2	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr3:10094085T>G	ENST00000419585.1	+	18	1721	c.1560T>G	c.(1558-1560)taT>taG	p.Y520*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.Y520*|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.Y520*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.Y520*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	520					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTTTAGATTATCTGGATAACA	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.Y520X		Atlas-SNP	.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	FANCD2	253	.	0			c.T1560G						PASS	.						69	66	67					3																	10094085		2203	4300	6503	SO:0001587	stop_gained	2177	exon18	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGATTATCTGGAT	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1560T>G	3.37:g.10094085T>G	ENSP00000398754:p.Tyr520*	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	80	25	0.3125	NM_001018115	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	39	7.513557	0.98329	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.55	-2.27	0.06846	.	0.196116	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8243	0.52259	0.0:0.5994:0.0:0.4006	.	.	.	.	X	520	.	ENSP00000287647:Y520X	Y	+	3	2	FANCD2	10069085	0.995000	0.38212	0.991000	0.47740	0.970000	0.65996	0.342000	0.19926	-0.131000	0.11578	-0.440000	0.05779	TAT	.	.	none		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			G	10094085	T	G	10094085	4	3	28	1	0	0	0	0	0	1	0	0	5665	1442	50	5	1626	5	FANCD2	3	10094085	Nonsense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10		10094085	187928345	20	22278										
RAF1	5894	hgsc.bcm.edu	37	chr3	12641240	12641240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aagagcctgacccaatccgaGtggacagcatcacttcactg	9	13	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr3:12641240G>A	ENST00000251849.4	-	10	1497	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	RAF1_ENST00000542177.1_Missense_Mutation_p.T272I|RAF1_ENST00000442415.2_Missense_Mutation_p.T373I|RAF1_ENST00000534997.1_Missense_Mutation_p.T138I	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCAATCCGAGTGGACAGCAT	0.458			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.T353I		Atlas-SNP	.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	RAF1	66	.	0			c.C1058T						PASS	.						91	88	89					3																	12641240		2203	4300	6503	SO:0001583	missense	5894	exon10	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ATCCGAGTGGACA	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1058C>T	3.37:g.12641240G>A	ENSP00000251849:p.Thr353Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	76	20	0.263158	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665107	0.67700	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.201811	0.53938	D	0.000054	D	0.97517	0.9187	L	0.41492	1.28	0.52501	D	0.999959	B;B;B	0.23891	0.078;0.045;0.093	B;B;B	0.36534	0.227;0.151;0.214	D	0.95631	0.8689	10	0.49607	T	0.09	.	17.5749	0.87946	0.0:0.0:1.0:0.0	.	272;138;353	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	I	353;373;232;138;272	ENSP00000251849:T353I;ENSP00000401888:T373I;ENSP00000398591:T232I;ENSP00000441186:T138I;ENSP00000443567:T272I	ENSP00000251849:T353I	T	-	2	0	RAF1	12616240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.301000	0.65727	2.752000	0.94435	0.655000	0.94253	ACT	.	.	none		0.458	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		A	12641240	G	A	12641240	3	1	28	1	0	0	0	0	1	0	0	0	13002	1029	36	2	920	2	RAF1	3	12641240	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	2547155	12641240	185381190	21	22279										
ZNF385D	79750	hgsc.bcm.edu	37	chr3	21478509	21478509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cagagttgacagcaaccttgCatagcgaacagtaaagaagc	10	9	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr3:21478509C>A	ENST00000281523.2	-	5	1144	c.626G>T	c.(625-627)tGc>tTc	p.C209F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	209						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGCAACCTTGCATAGCGAACA	0.478																																					p.C209F		Atlas-SNP	.											.	ZNF385D	93	.	0			c.G626T						PASS	.						170	140	150					3																	21478509		2203	4300	6503	SO:0001583	missense	79750	exon5			ACCTTGCATAGCG	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.626G>T	3.37:g.21478509C>A	ENSP00000281523:p.Cys209Phe	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	85	21	0.247059	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105674	0.94292	.	.	ENSG00000151789	ENST00000281523	D	0.99964	-9.97	6.09	6.09	0.99107	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95511	0.8586	10	0.72032	D	0.01	-16.5546	20.6789	0.99705	0.0:1.0:0.0:0.0	.	209	Q9H6B1	Z385D_HUMAN	F	209	ENSP00000281523:C209F	ENSP00000281523:C209F	C	-	2	0	ZNF385D	21453513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.742000	0.85008	2.891000	0.99171	0.655000	0.94253	TGC	.	.	none		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21478509	C	A	21478509	3	1	28	1	0	0	0	0	1	0	0	0	17875	710	25	4	577	4	ZNF385D	3	21478509	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	8837269	21478509	176543921	22	22280										
TRANK1	9881	hgsc.bcm.edu	37	chr3	36898455	36898455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	acacgtgttctgctccgtggCaatgatcttctcagggttct	10	11	4	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr3:36898455C>A	ENST00000429976.2	-	12	2873	c.2626G>T	c.(2626-2628)Gcc>Tcc	p.A876S	TRANK1_ENST00000428977.2_Missense_Mutation_p.A326S|TRANK1_ENST00000301807.6_Missense_Mutation_p.A326S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	876							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCTCCGTGGCAATGATCTTC	0.532																																					p.A876S		Atlas-SNP	.											.	TRANK1	398	.	0			c.G2626T						PASS	.						55	50	52					3																	36898455		1990	4175	6165	SO:0001583	missense	9881	exon12			CCGTGGCAATGAT	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2626G>T	3.37:g.36898455C>A	ENSP00000416168:p.Ala876Ser	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	0.157	-1.085744	0.01873	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29655	1.56;1.97;1.56	5.49	0.111	0.14619	.	0.642324	0.15186	N	0.275836	T	0.15305	0.0369	N	0.19112	0.55	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.29058	-1.0024	10	0.17832	T	0.49	.	5.6844	0.17794	0.124:0.5867:0.0:0.2893	.	876	O15050	TRNK1_HUMAN	S	326;876;326	ENSP00000416826:A326S;ENSP00000416168:A876S;ENSP00000301807:A326S	ENSP00000301807:A326S	A	-	1	0	TRANK1	36873459	0.021000	0.18746	0.000000	0.03702	0.002000	0.02628	0.424000	0.21330	0.072000	0.16694	-0.275000	0.10095	GCC	.	.	none		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36898455	C	A	36898455	3	1	28	1	0	0	0	0	1	0	0	0	16451	710	25	4	6199	4	TRANK1	3	36898455	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	15419946	36898455	161123975	23	22281										
FBXW12	285231	hgsc.bcm.edu	37	chr3	48420937	48420937	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	acatttacactgcctgggttAagagatgtttctaaagttac	8	7	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr3:48420937A>C	ENST00000296438.5	+	7	849	c.663A>C	c.(661-663)ttA>ttC	p.L221F	FBXW12_ENST00000445170.1_Missense_Mutation_p.L202F|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Missense_Mutation_p.L64F|FBXW12_ENST00000415155.1_Missense_Mutation_p.L151F	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	221										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCTGGGTTAAGAGATGTTT	0.413																																					p.L221F		Atlas-SNP	.											.	FBXW12	44	.	0			c.A663C						PASS	.						318	285	296					3																	48420937		2203	4300	6503	SO:0001583	missense	285231	exon7			TGGGTTAAGAGAT	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.663A>C	3.37:g.48420937A>C	ENSP00000296438:p.Leu221Phe	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	156	40	0.25641	NM_207102	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522619	0.44866	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.63913	1.53;-0.07;1.53;3.4	3.64	-0.456	0.12190	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.000000	0.64402	D	0.000012	T	0.69097	0.3073	M	0.67397	2.05	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.988;0.995	T	0.58070	-0.7701	10	0.66056	D	0.02	-0.3675	3.6866	0.08331	0.5915:0.1914:0.2171:0.0	.	120;202;151;221	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	F	120;221;64;202;151	ENSP00000296438:L221F;ENSP00000413866:L64F;ENSP00000406139:L202F;ENSP00000414683:L151F	ENSP00000296438:L221F	L	+	3	2	FBXW12	48395941	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.092000	0.15066	-0.074000	0.12820	0.533000	0.62120	TTA	.	.	none		0.413	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		C	48420937	A	C	48420937	3	2	28	1	0	0	0	0	1	0	0	0	5765	359	13	5	722	5	FBXW12	3	48420937	Missense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	11522482	48420937	149601493	24	22282										
CSN3	1448	hgsc.bcm.edu	37	chr4	71110559	71110559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaagagttttcttctagttgTcaatgccctggcattaaccc	8	10	3	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:71110559T>C	ENST00000304954.3	+	2	109	c.23T>C	c.(22-24)gTc>gCc	p.V8A		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTTCTAGTTGTCAATGCCCTG	0.284																																					p.V8A		Atlas-SNP	.											.	CSN3	43	.	0			c.T23C						PASS	.						92	88	90					4																	71110559		2202	4296	6498	SO:0001583	missense	1448	exon2			TAGTTGTCAATGC	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.23T>C	4.37:g.71110559T>C	ENSP00000304822:p.Val8Ala	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	22	0.305556	NM_005212	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479333	0.44044	.	.	ENSG00000171209	ENST00000304954	T	0.31247	1.5	4.08	4.08	0.47627	.	0.691470	0.12600	N	0.454752	T	0.41534	0.1163	L	0.59436	1.845	0.27033	N	0.964187	D	0.56968	0.978	P	0.53146	0.719	T	0.24548	-1.0157	10	0.66056	D	0.02	.	9.7345	0.40379	0.0:0.0:0.0:1.0	.	8	P07498	CASK_HUMAN	A	8	ENSP00000304822:V8A	ENSP00000304822:V8A	V	+	2	0	CSN3	71145148	0.978000	0.34361	0.952000	0.39060	0.866000	0.49608	1.903000	0.39858	2.078000	0.62432	0.455000	0.32223	GTC	.	.	none		0.284	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		C	71110559	T	C	71110559	3	2	28	1	0	0	0	0	1	0	0	0	3949	1667	58	2	25	2	CSN3	4	71110559	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10		71110559	120043717	25	22283										
ENAM	10117	hgsc.bcm.edu	37	chr4	71510318	71510318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttctgcatttgccatgctttGgctccaaattagcaaagcat	7	10	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:71510318G>A	ENST00000396073.3	+	9	3456	c.3175G>A	c.(3175-3177)Ggc>Agc	p.G1059S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1059					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCCATGCTTTGGCTCCAAATT	0.458																																					p.G1059S		Atlas-SNP	.											.	ENAM	140	.	0			c.G3175A						PASS	.						107	98	101					4																	71510318		2203	4300	6503	SO:0001583	missense	10117	exon9			TGCTTTGGCTCCA	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3175G>A	4.37:g.71510318G>A	ENSP00000379383:p.Gly1059Ser	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	139	46	0.330935	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340890	0.24339	.	.	ENSG00000132464	ENST00000396073	T	0.34072	1.38	5.95	3.18	0.36537	.	0.357246	0.24557	N	0.037508	T	0.36166	0.0957	L	0.50333	1.59	0.29732	N	0.837785	B	0.20459	0.045	B	0.36030	0.216	T	0.40327	-0.9569	10	0.54805	T	0.06	-2.4743	7.769	0.28997	0.1511:0.1474:0.7015:0.0	.	1059	Q9NRM1	ENAM_HUMAN	S	1059	ENSP00000379383:G1059S	ENSP00000379383:G1059S	G	+	1	0	ENAM	71729182	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	1.006000	0.29847	0.872000	0.35775	-0.794000	0.03295	GGC	.	.	none		0.458	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		A	71510318	G	A	71510318	3	1	28	1	0	0	0	0	1	0	0	0	5112	1348	47	2	3205	2	ENAM	4	71510318	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	399759	71510318	119643958	26	22284										
LARP1B	55132	hgsc.bcm.edu	37	chr4	129035899	129035899	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	agccccagtgaaattgagggTaagttgttacagactgagtg	13	6	0	4			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:129035899T>C	ENST00000326639.6	+	10	1372		c.e10+2		LARP1B_ENST00000441387.1_Splice_Site|LARP1B_ENST00000264584.5_Splice_Site|LARP1B_ENST00000512292.1_Splice_Site|LARP1B_ENST00000427266.1_Splice_Site|LARP1B_ENST00000354456.3_Splice_Site	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAATTGAGGGTAAGTTGTTAC	0.408																																					.		Atlas-SNP	.											.	LARP1B	120	.	0			c.1161+2T>C						PASS	.						86	85	85					4																	129035899		2203	4300	6503	SO:0001630	splice_region_variant	55132	exon10			TGAGGGTAAGTTG		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1161+2T>C	4.37:g.129035899T>C		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	68	17	0.25	NM_018078	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Splice_Site	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910818	0.52439	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266;ENST00000507377	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.84	0.63432	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP1B	129255349	1.000000	0.71417	0.986000	0.45419	0.668000	0.39293	5.211000	0.65219	1.840000	0.53500	0.482000	0.46254	.	.	.	none		0.408	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	Intron	C	129035899	T	C	129035899	5	2	28	1	0	0	0	0	0	0	1	0	8629	1652	57	2	1282	2	LARP1B	4	129035899	Splice_Site	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	57525581	129035899	62118377	27	22285										
SH3D19	152503	hgsc.bcm.edu	37	chr4	152069110	152069110	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	agagggtgtcctggtttgggAcgagggggtagcaccggatc	19	7	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:152069110A>C	ENST00000409252.2	-	10	1913	c.1206T>G	c.(1204-1206)cgT>cgG	p.R402R	SH3D19_ENST00000409598.4_Silent_p.R402R|SH3D19_ENST00000424281.1_Silent_p.R366R|SH3D19_ENST00000455740.1_Silent_p.R402R|SH3D19_ENST00000514152.1_Silent_p.R402R|SH3D19_ENST00000427414.2_Silent_p.R366R|SH3D19_ENST00000304527.4_Silent_p.R402R			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	402					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CTGGTTTGGGACGAGGGGGTA	0.393																																					p.R402R		Atlas-SNP	.											.	SH3D19	54	.	0			c.T1206G						PASS	.						81	88	85					4																	152069110		2203	4300	6503	SO:0001819	synonymous_variant	152503	exon11			TTTGGGACGAGGG	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1206T>G	4.37:g.152069110A>C		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	63	14	0.222222	NM_001128923	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	CCDS34077.2																																																																																			.	.	none		0.393	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		C	152069110	A	C	152069110	2	2	28	1	0	0	0	0	0	0	0	1	14249	262	10	5		5	SH3D19	4	152069110	Silent	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	23033211	152069110	39085166	28	22286										
SH3RF1	57630	hgsc.bcm.edu	37	chr4	170043268	170043268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tacacactggggcgagtctgCggccgtaaatgtgcaatctg	13	10	2	0	rs148721890		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:170043268C>T	ENST00000284637.9	-	7	1670	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	443	Interaction with AKT2. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGCGAGTCTGCGGCCGTAAAT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18539	0.0		0.001	False		,,,				2504	0.0				p.P443P		Atlas-SNP	.											.	SH3RF1	60	.	0			c.G1329A						PASS	.	C		4,4402	8.1+/-20.4	0,4,2199	88	78	81		1329	-10.6	0.8	4	dbSNP_134	81	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous	SH3RF1	NM_020870.3		0,15,6488	TT,TC,CC		0.1279,0.0908,0.1153		443/889	170043268	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	57630	exon7			AGTCTGCGGCCGT	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1329G>A	4.37:g.170043268C>T		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	70	22	0.314286	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	CCDS34099.1																																																																																			C|0.999;T|0.001	0.001	strong		0.552	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		T	170043268	C	T	170043268	2	4	28	1	0	0	0	0	0	0	0	1	14258	755	27	1		1	SH3RF1	4	170043268	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	17974158	170043268	21111008	29	22287										
MFAP3L	9848	hgsc.bcm.edu	37	chr4	170926948	170926948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgttagtcacactcttagcGgtggctagagtggatactag	12	8	2	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:170926948G>A	ENST00000361618.3	-	2	388	c.81C>T	c.(79-81)acC>acT	p.T27T	MFAP3L_ENST00000506110.1_Silent_p.T27T|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000393702.3_Silent_p.T27T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CACTCTTAGCGGTGGCTAGAG	0.453																																					p.T27T		Atlas-SNP	.											.	MFAP3L	59	.	0			c.C81T						PASS	.						103	102	102					4																	170926948		2203	4300	6503	SO:0001819	synonymous_variant	9848	exon2			CTTAGCGGTGGCT	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.81C>T	4.37:g.170926948G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	69	19	0.275362	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	CCDS34103.1																																																																																			.	.	none		0.453	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		A	170926948	G	A	170926948	2	1	28	1	0	0	0	0	0	0	0	1	9516	1103	39	1		1	MFAP3L	4	170926948	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	883680	170926948	20227328	30	22288										
FAT1	2195	hgsc.bcm.edu	37	chr4	187549438	187549438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	taggaggaagcggtgaaccaCggggcgtggtcattcgtgtc	17	8	1	1	rs370954148		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr4:187549438C>T	ENST00000441802.2	-	9	4889	c.4680G>A	c.(4678-4680)ccG>ccA	p.P1560P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1560	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGTGAACCACGGGGCGTGGT	0.498										HNSCC(5;0.00058)																											p.P1560P	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											FAT1,NS,carcinoma,0,2	FAT1	500	2	0			c.G4680A						PASS	.	C		0,4196		0,0,2098	54	57	56		4680	-1.7	1	4		56	1,8461		0,1,4230	no	coding-synonymous	FAT1	NM_005245.3		0,1,6328	TT,TC,CC		0.0118,0.0,0.0079		1560/4589	187549438	1,12657	2098	4231	6329	SO:0001819	synonymous_variant	2195	exon9			GAACCACGGGGCG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4680G>A	4.37:g.187549438C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	82	21	0.256098	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																			.	.	weak		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187549438	C	T	187549438	2	4	28	1	0	0	0	0	0	0	0	1	5689	523	19	1		1	FAT1	4	187549438	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	16622490	187549438	3604838	31	22289										
ADCY2	108	hgsc.bcm.edu	37	chr5	7766914	7766914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gtgcgcagaatttatttttcCtcccggtaagaacattgcaa	8	9	0	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr5:7766914C>T	ENST00000338316.4	+	17	2298	c.2209C>T	c.(2209-2211)Ctc>Ttc	p.L737F	ADCY2_ENST00000537121.1_Missense_Mutation_p.L557F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	737					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTATTTTTCCTCCCGGTAAG	0.428																																					p.L737F		Atlas-SNP	.											.	ADCY2	337	.	0			c.C2209T						PASS	.						188	194	192					5																	7766914		2203	4300	6503	SO:0001583	missense	108	exon17			TTTTTCCTCCCGG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2209C>T	5.37:g.7766914C>T	ENSP00000342952:p.Leu737Phe	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	137	27	0.19708	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008322	0.35415	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81908	-1.08;-1.55	5.46	5.46	0.80206	.	0.068532	0.64402	N	0.000019	T	0.81064	0.4745	L	0.60455	1.87	0.49582	D	0.999802	B;B	0.14805	0.005;0.011	B;B	0.17979	0.019;0.02	T	0.76250	-0.3028	10	0.38643	T	0.18	.	16.0386	0.80648	0.0:1.0:0.0:0.0	.	557;737	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	737;570;557	ENSP00000342952:L737F;ENSP00000444803:L557F	ENSP00000342952:L737F	L	+	1	0	ADCY2	7819914	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.754000	0.55189	2.559000	0.86315	0.655000	0.94253	CTC	.	.	none		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7766914	C	T	7766914	3	4	28	1	0	0	0	0	1	0	0	0	294	681	24	2	2275	2	ADCY2	5	7766914	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10		7766914	173148346	32	22290										
CDH18	1016	hgsc.bcm.edu	37	chr5	19571926	19571926	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gagggtatatgacttcttttTctcatagttcagtggctgtg	11	6	3	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr5:19571926T>A	ENST00000507958.1	-	10	2005	c.1015A>T	c.(1015-1017)Aaa>Taa	p.K339*	CDH18_ENST00000502796.1_Nonsense_Mutation_p.K339*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.K339*|CDH18_ENST00000511273.1_Nonsense_Mutation_p.K339*|CDH18_ENST00000506372.1_Nonsense_Mutation_p.K339*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.K339*			Q13634	CAD18_HUMAN	cadherin 18, type 2	339	Cadherin 3. {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)					GACTTCTTTTTCTCATAGTTC	0.303																																					p.K339X		Atlas-SNP	.											.	CDH18	561	.	0			c.A1015T						PASS	.						62	65	64					5																	19571926		2203	4300	6503	SO:0001587	stop_gained	1016	exon8			TCTTTTTCTCATA	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.1015A>T	5.37:g.19571926T>A	ENSP00000425093:p.Lys339*	Somatic	338	0	0		WXS	Illumina HiSeq	Phase_I	261	61	0.233716	NM_001167667	A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	47	13.320112	0.99734	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	.	.	.	5.17	5.17	0.71159	.	0.048931	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.131	0.65253	0.0:0.0:0.0:1.0	.	.	.	.	X	339;339;339;339;339;339;285;339	.	.	K	-	1	0	CDH18	19607683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.095000	0.63458	0.533000	0.62120	AAA	.	.	none		0.303	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19571926	T	A	19571926	4	1	28	1	0	0	0	0	0	1	0	0	3103	1792	62	5	1381	5	CDH18	5	19571926	Nonsense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	11805012	19571926	161343334	33	22291										
IL6ST	3572	hgsc.bcm.edu	37	chr5	55237383	55237383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tctgtagccactgtgtaccaCggtagaatactggacagtgc	11	10	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr5:55237383C>T	ENST00000381298.2	-	17	2596	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.V701M|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.V762M|IL6ST_ENST00000336909.5_Missense_Mutation_p.V762M|CTD-2031P19.5_ENST00000576302.1_RNA	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	762					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTGTGTACCACGGTAGAATAC	0.483			O		hepatocellular ca																																p.V762M		Atlas-SNP	.		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	.	IL6ST	75	.	0			c.G2284A						PASS	.						145	144	144					5																	55237383		2203	4300	6503	SO:0001583	missense	3572	exon17			GTACCACGGTAGA	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2284G>A	5.37:g.55237383C>T	ENSP00000370698:p.Val762Met	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	147	34	0.231293	NM_002184	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376368	0.82682	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.63580	0.3;0.3;-0.05	5.4	5.4	0.78164	.	0.000000	0.44688	D	0.000433	T	0.73481	0.3592	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75616	-0.3256	10	0.87932	D	0	.	19.5543	0.95335	0.0:1.0:0.0:0.0	.	762;701;762	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	M	762;762;701	ENSP00000370698:V762M;ENSP00000338799:V762M;ENSP00000370694:V701M	ENSP00000338799:V762M	V	-	1	0	IL6ST	55273140	1.000000	0.71417	0.961000	0.40146	0.713000	0.41058	5.413000	0.66399	2.687000	0.91594	0.557000	0.71058	GTG	.	.	none		0.483	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		T	55237383	C	T	55237383	3	4	28	1	0	0	0	0	1	0	0	0	7703	536	19	1	476	1	IL6ST	5	55237383	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	35665457	55237383	125677877	34	22292										
EGR1	1958	hgsc.bcm.edu	37	chr5	137801591	137801591	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgagcaacggggctccccaGttcctcggcgccgccggggc	15	17	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr5:137801591G>C	ENST00000239938.4	+	1	413	c.141G>C	c.(139-141)caG>caC	p.Q47H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	47					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGGCTCCCCAGTTCCTCGGCG	0.677																																					p.Q47H		Atlas-SNP	.											.	EGR1	52	.	0			c.G141C						PASS	.						52	49	50					5																	137801591		2203	4300	6503	SO:0001583	missense	1958	exon1			TCCCCAGTTCCTC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.141G>C	5.37:g.137801591G>C	ENSP00000239938:p.Gln47His	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	83	22	0.26506	NM_001964		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110797	0.20714	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.09163	3.01	5.07	3.26	0.37387	.	0.120124	0.64402	D	0.000020	T	0.11410	0.0278	L	0.48642	1.525	0.36348	D	0.859902	B;B	0.21753	0.06;0.004	B;B	0.23275	0.045;0.002	T	0.07809	-1.0753	10	0.66056	D	0.02	-0.6163	11.2363	0.48942	0.0:0.2576:0.609:0.1334	.	47;47	B4DNX4;P18146	.;EGR1_HUMAN	H	47	ENSP00000239938:Q47H	ENSP00000239938:Q47H	Q	+	3	2	EGR1	137829490	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	1.087000	0.30865	0.700000	0.31782	-0.500000	0.04577	CAG	.	.	none		0.677	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		C	137801591	G	C	137801591	3	2	28	1	0	0	0	0	1	0	0	0	4971	1020	36	4	143	4	EGR1	5	137801591	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	82564208	137801591	43113669	35	22293										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140201632	140201632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgtgaattctcggatcgaccGggaggagctgtgccggcgga	17	9	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr5:140201632G>A	ENST00000529859.1	+	1	272	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622																																					p.R91Q		Atlas-SNP	.											PCDHA5_ENST00000529859,NS,carcinoma,-1,2	PCDHA5	361	2	0			c.G272A						PASS	.						91	106	101					5																	140201632		2202	4300	6502	SO:0001583	missense	56143	exon1			TCGACCGGGAGGA	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.272G>A	5.37:g.140201632G>A	ENSP00000436557:p.Arg91Gln	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	90	14	0.155556	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765070	0.90020	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.53206	0.63;0.63;0.63	3.97	3.97	0.46021	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82185	0.4982	H	0.99565	4.63	0.37098	D	0.899752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.989;0.989	D	0.92497	0.6005	9	0.87932	D	0	.	16.4728	0.84119	0.0:0.0:1.0:0.0	.	91;91;91	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Q	91	ENSP00000433416:R91Q;ENSP00000436557:R91Q;ENSP00000367366:R91Q	ENSP00000367366:R91Q	R	+	2	0	PCDHA5	140181816	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	9.861000	0.99562	1.937000	0.56155	0.580000	0.79431	CGG	.	.	none		0.622	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140201632	G	A	140201632	3	1	28	1	0	0	0	0	1	0	0	0	11527	1116	39	1	274	1	PCDHA5	5	140201632	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	2400041	140201632	40713628	36	22294										
DSP	1832	hgsc.bcm.edu	37	chr6	7584954	7584954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aggaggcctacaagaagggcCtaattgattatgaaaccttc	10	8	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:7584954C>T	ENST00000379802.3	+	24	7800	c.7459C>T	c.(7459-7461)Cta>Tta	p.L2487L	DSP_ENST00000418664.2_Silent_p.L1888L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2487	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAGAAGGGCCTAATTGATTA	0.458																																					p.L2487L		Atlas-SNP	.											.	DSP	306	.	0			c.C7459T						PASS	.						105	111	109					6																	7584954		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon24			AAGGGCCTAATTG	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7459C>T	6.37:g.7584954C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	90	66	0.733333	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			.	.	none		0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7584954	C	T	7584954	2	4	28	1	0	0	0	0	0	0	0	1	4781	680	24	2		2	DSP	6	7584954	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10		7584954	163530113	37	22295										
KAAG1	353219	hgsc.bcm.edu	37	chr6	24358062	24358062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cggcctcaccgcacccagggCgcgggatcgcctcctgaaac	12	18	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:24358062C>T	ENST00000274766.1	+	1	932	c.195C>T	c.(193-195)ggC>ggT	p.G65G	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	65					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						GCACCCAGGGCGCGGGATCGC	0.667																																					p.G65G		Atlas-SNP	.											.	KAAG1	4	.	0			c.C195T						PASS	.						24	28	27					6																	24358062		2180	4266	6446	SO:0001819	synonymous_variant	353219	exon1			CCAGGGCGCGGGA	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.195C>T	6.37:g.24358062C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	99	13	0.131313	NM_181337		Silent	SNP	ENST00000274766.1	37	CCDS4551.1																																																																																			.	.	none		0.667	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			T	24358062	C	T	24358062	2	4	28	1	0	0	0	0	0	0	0	1	7973	755	27	1		1	KAAG1	6	24358062	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	16773108	24358062	146757005	38	22296										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156745	26156745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgggcccccggtgtccgagCtcattactaaagctgttgcc	11	14	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:26156745C>G	ENST00000304218.3	+	1	187	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	43	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGTGTCCGAGCTCATTACTAA	0.632																																					p.L43V		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.C127G						PASS	.						21	27	25					6																	26156745		2203	4299	6502	SO:0001583	missense	3008	exon1			TCCGAGCTCATTA	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.127C>G	6.37:g.26156745C>G	ENSP00000307705:p.Leu43Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	70	14	0.2	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	14.84	2.656485	0.47467	.	.	ENSG00000168298	ENST00000304218	T	0.26957	1.7	5.49	4.61	0.57282	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.065201	0.64402	D	0.000006	T	0.36880	0.0983	M	0.82433	2.59	0.58432	D	0.999999	P	0.37500	0.597	P	0.49953	0.627	T	0.38929	-0.9638	10	0.87932	D	0	-5.0498	15.0173	0.71597	0.1436:0.8564:0.0:0.0	.	43	P10412	H14_HUMAN	V	43	ENSP00000307705:L43V	ENSP00000307705:L43V	L	+	1	0	HIST1H1E	26264724	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	5.964000	0.70379	1.423000	0.47198	-0.181000	0.13052	CTC	.	.	none		0.632	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		G	26156745	C	G	26156745	3	3	28	1	0	0	0	0	1	0	0	0	7126	797	28	4	129	4	HIST1H1E	6	26156745	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	1798683	26156745	144958322	39	22297										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238009	31238009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cagctcagggtgaggggctcTtgcagcccctcgtgctgcat	14	13	2	1	rs1131014	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497				p.Q291Q		Atlas-SNP	.											HLA-C_ENST00000383329,colon,carcinoma,0,2	HLA-C	92	2	0			c.A873G						scavenged	.						23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107	exon4			GGGCTCTTGCAGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.873A>G	6.37:g.31238009T>C		Somatic	41	16	0.390244		WXS	Illumina HiSeq	Phase_I	64	46	0.71875	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG	T|0.651;C|0.349	0.349	strong		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	28	1	0	0	0	0	0	0	0	1	7197	1606	56	3		3	HLA-C	6	31238009	Silent	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	5081264	31238009	139877058	40	22298										
C4A	720	hgsc.bcm.edu	37	chr6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgcggcttggttgtcacgggAcagcagcacctggtgagctt	15	10	1	1	rs147162052		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:31963559A>G	ENST00000428956.2	+	25	3302	c.3218A>G	c.(3217-3219)gAc>gGc	p.D1073G	C4A_ENST00000498271.1_Missense_Mutation_p.D1073G	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1073			D -> G (in allotype C4A1, allotype C4A2; dbSNP:rs147162052). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3696167, ECO:0000269|Ref.8}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGACAGCAGCACC	0.612																																					p.G1073G		Atlas-SNP	.											C4B,right_upper_lobe,carcinoma,0,2	C4A	15	2	0			c.G3218G						scavenged	.						101	86	91					6																	31963559		1499	2656	4155	SO:0001583	missense	720	exon25			CACGGGACAGCAG	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"Blood group antigens", "Complement system"	1323	protein-coding gene	gene with protein product		120810	"complement component 4A"				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3218A>G	6.37:g.31963559A>G	ENSP00000396688:p.Asp1073Gly	Somatic	1132	6	0.00530035		WXS	Illumina HiSeq	Phase_I	1081	18	0.0166512	NM_007293	A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	A	1.712	-0.498842	0.04291	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37915	1.17;1.17	3.11	1.88	0.25563	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.	.	.	.	T	0.16642	0.0400	M	0.64170	1.965	0.80722	D	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.026;0.044	T	0.04885	-1.0920	9	0.46703	T	0.11	.	5.4739	0.16686	0.8606:0.0:0.1394:0.0	.	1073;1073	A6H8M8;P0C0L4	.;CO4A_HUMAN	G	1073	ENSP00000396688:D1073G;ENSP00000420212:D1073G	ENSP00000396688:D1073G	D	+	2	0	C4A	32071538	0.168000	0.22989	0.910000	0.35882	0.043000	0.13939	0.471000	0.22100	0.399000	0.25367	-1.226000	0.01582	GAC	A|0.500;G|0.500	0.500	strong		0.612	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		G	31963559	A	G	31963559	3	3	28	1	0	0	0	0	1	0	0	0	2247	275	10	2	3316	2	C4A	6	31963559	Missense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	725550	31963559	139151508	41	22299										
TFAP2B	7021	hgsc.bcm.edu	37	chr6	50803938	50803938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgtgggagaagttcagagaCggctgtcgccccctgaatgc	14	11	1	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:50803938C>T	ENST00000393655.3	+	4	935	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R265W	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	256					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R256G(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGTTCAGAGACGGCTGTCGCC	0.498																																					p.R256W	Pancreas(116;1373 2332 5475 10752)	Atlas-SNP	.											TFAP2B,NS,carcinoma,0,1	TFAP2B	91	1	1	Substitution - Missense(1)	lung(1)	c.C766T						PASS	.						57	54	55					6																	50803938		2203	4300	6503	SO:0001583	missense	7021	exon4			CAGAGACGGCTGT	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.766C>T	6.37:g.50803938C>T	ENSP00000377265:p.Arg256Trp	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	10	0.149254	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917242	0.52546	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.99051	-5.37;-5.37	5.44	3.61	0.41365	Transcription factor AP-2, C-terminal (1);	0.109437	0.64402	D	0.000016	D	0.99174	0.9714	M	0.92604	3.325	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.99690	1.1001	10	0.87932	D	0	-12.5531	8.0974	0.30837	0.2894:0.6377:0.0:0.0729	.	256	Q92481	AP2B_HUMAN	W	256;265	ENSP00000377265:R256W;ENSP00000263046:R265W	ENSP00000263046:R265W	R	+	1	2	TFAP2B	50911897	1.000000	0.71417	0.998000	0.56505	0.338000	0.28826	2.714000	0.47202	0.625000	0.30304	-0.157000	0.13467	CGG	.	.	none		0.498	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		T	50803938	C	T	50803938	3	4	28	1	0	0	0	0	1	0	0	0	15785	527	19	1	780	1	TFAP2B	6	50803938	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	18840379	50803938	120311129	42	22300										
DST	667	hgsc.bcm.edu	37	chr6	56485371	56485371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gttcttcctctactcgggacTtttgtttctttagttcagct	7	10	4	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:56485371T>G	ENST00000370765.6	-	23	3568	c.3461A>C	c.(3460-3462)aAg>aCg	p.K1154T	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTCGGGACTTTTGTTTCTT	0.423																																					p.K1154T		Atlas-SNP	.											.	DST	1427	.	0			c.A3461C						PASS	.						184	178	180					6																	56485371		2203	4300	6503	SO:0001583	missense	667	exon23			CGGGACTTTTGTT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3461A>C	6.37:g.56485371T>G	ENSP00000359801:p.Lys1154Thr	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	226	32	0.141593	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635748	0.47049	.	.	ENSG00000151914	ENST00000370765	T	0.25250	1.81	4.46	4.46	0.54185	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	0.999997	D	0.54964	0.969	P	0.55824	0.785	T	0.03157	-1.1066	7	0.27785	T	0.31	.	13.9147	0.63890	0.0:0.0:0.0:1.0	.	1154	Q03001-3	.	T	1154	ENSP00000359801:K1154T	ENSP00000359801:K1154T	K	-	2	0	DST	56593330	1.000000	0.71417	0.917000	0.36280	0.602000	0.36980	5.260000	0.65490	1.880000	0.54463	0.366000	0.22137	AAG	.	.	none		0.423	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		G	56485371	T	G	56485371	3	3	28	1	0	0	0	0	1	0	0	0	4783	1609	56	5	16942	5	DST	6	56485371	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	5681433	56485371	114629696	43	22301										
TBX18	9096	hgsc.bcm.edu	37	chr6	85446869	85446869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cgcccacataggagggagtcCtgggcggggcaaaggtctca	16	11	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:85446869C>T	ENST00000369663.5	-	8	1695	c.1358G>A	c.(1357-1359)aGg>aAg	p.R453K	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	453					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R453K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGGGAGTCCTGGGCGGGGC	0.602																																					p.R453K		Atlas-SNP	.											TBX18,NS,carcinoma,0,1	TBX18	131	1	1	Substitution - Missense(1)	lung(1)	c.G1358A						PASS	.						98	89	92					6																	85446869		2203	4300	6503	SO:0001583	missense	9096	exon8			GGAGTCCTGGGCG	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1358G>A	6.37:g.85446869C>T	ENSP00000358677:p.Arg453Lys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	46	23	0.5	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839155	0.71373	.	.	ENSG00000112837	ENST00000369663	D	0.87334	-2.24	5.48	4.59	0.56863	.	0.071026	0.64402	D	0.000017	D	0.86049	0.5840	L	0.32530	0.975	0.58432	D	0.999997	D	0.67145	0.996	D	0.75484	0.986	D	0.84996	0.0897	10	0.27082	T	0.32	.	16.1361	0.81490	0.0:0.866:0.134:0.0	.	453	O95935	TBX18_HUMAN	K	453	ENSP00000358677:R453K	ENSP00000358677:R453K	R	-	2	0	TBX18	85503588	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	6.367000	0.73099	1.277000	0.44412	0.585000	0.79938	AGG	.	.	none		0.602	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		T	85446869	C	T	85446869	3	4	28	1	0	0	0	0	1	0	0	0	15650	681	24	2	469	2	TBX18	6	85446869	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	28961498	85446869	85668198	44	22302										
SYNE1	23345	hgsc.bcm.edu	37	chr6	152737628	152737629	+	Frame_Shift_Ins	INS	-	-	T													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tctttctggtcttggaatgcINSttttttcaacactgccagag							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr6:152737628_152737629insT	ENST00000367255.5	-	41	6544_6545	c.5943_5944insA	c.(5941-5946)aaagcafs	p.A1982fs	SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.A1989fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.A2019fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.A1982fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.A1989fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1982					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTGGAATGCTTTTTTCAACA	0.495										HNSCC(10;0.0054)																											p.A1989fs		Pindel,Atlas-Indel	.											.	SYNE1	3227	.	0			c.5965_5966insA						PASS	.																																			SO:0001589	frameshift_variant	23345	exon41			.	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5944dupA	6.37:g.152737634_152737634dupT	ENSP00000356224:p.Ala1982fs	Somatic	255	.	.		WXS	Illumina HiSeq	Phase_I	107	24	0.224	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	CCDS5236.2																																																																																			.	.	none		0.495	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152737629	-	T	152737628	7	5	28	1	0	1	1	0	0	0	0	0	15442	797	28	0	20946	0	SYNE1	6	152737628	Frame_Shift_Ins	INS	-	TCGA-GS-A9TQ-01A-11D-A382-10	67290759	152737628	18377439	45	22303										
CNPY4	245812	hgsc.bcm.edu	37	chr7	99720170	99720170	+	Frame_Shift_Del	DEL	T	T	-													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctggactatagtgttcacgcTgagcgcaagggctcactgag							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr7:99720170delT	ENST00000262932.3	+	3	444	c.312delT	c.(310-312)gctfs	p.A104fs	CNPY4_ENST00000480692.1_3'UTR|TAF6_ENST00000437822.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	104						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)					GTGTTCACGCTGAGCGCAAGG	0.522																																					p.A104fs		Atlas-Indel	.											.	CNPY4	18	.	0			c.311delC						PASS	.						101	106	105					7																	99720170		2203	4300	6503	SO:0001589	frameshift_variant	245812	exon3			.	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.312delT	7.37:g.99720170delT	ENSP00000262932:p.Ala104fs	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	87	17	0.195402	NM_152755	Q8WUN9	Frame_Shift_Del	DEL	ENST00000262932.3	37	CCDS34701.1																																																																																			.	.	none		0.522	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		-	99720170	T	-	99720170	7	5	28	1	0	1	0	1	0	0	0	0	3630	1567	55	0	322	0	CNPY4	7	99720170	Frame_Shift_Del	DEL	T	TCGA-GS-A9TQ-01A-11D-A382-10		99720170	59418493	46	22304										
MUC17	140453	hgsc.bcm.edu	37	chr7	100682597	100682597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctcctagtgaagtaagtactTcattaacaagtatacttgtc	6	8	1	1	rs137868062		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr7:100682597T>C	ENST00000306151.4	+	3	7964	c.7900T>C	c.(7900-7902)Tca>Cca	p.S2634P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2634	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)					AGTAAGTACTTCATTAACAAG	0.463																																					p.S2634P		Atlas-SNP	.											MUC17,NS,carcinoma,-1,1	MUC17	804	1	0			c.T7900C						scavenged	.						241	244	243					7																	100682597		2203	4300	6503	SO:0001583	missense	140453	exon3			AGTACTTCATTAA	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.7900T>C	7.37:g.100682597T>C	ENSP00000302716:p.Ser2634Pro	Somatic	56	9	0.160714		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075162	0.01903	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	0.522	-0.805	0.10879	.	.	.	.	.	T	0.00845	0.0028	N	0.01576	-0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46925	-0.9156	9	0.11485	T	0.65	.	5.2426	0.15479	0.0:0.4708:0.0:0.5292	.	2634	Q685J3	MUC17_HUMAN	P	2634	ENSP00000302716:S2634P	ENSP00000302716:S2634P	S	+	1	0	MUC17	100469317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.716000	0.00385	-1.184000	0.02720	-1.386000	0.01163	TCA	.	.	weak		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100682597	T	C	100682597	3	2	28	1	0	0	0	0	1	0	0	0	9974	1783	62	2	7910	2	MUC17	7	100682597	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	962427	100682597	58456066	47	22305										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113518866	113518866	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctcgatgggcctgtcacttcGtgctgtctcttgaggtagct	12	11	2	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr7:113518866G>A	ENST00000284601.3	-	4	2349	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	761					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGTCACTTCGTGCTGTCTCT	0.413																																					p.R761X		Atlas-SNP	.											PPP1R3A,trunk,malignant_melanoma,+1,1	PPP1R3A	317	1	0			c.C2281T						PASS	.						126	112	117					7																	113518866		2203	4299	6502	SO:0001587	stop_gained	5506	exon4			CACTTCGTGCTGT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2281C>T	7.37:g.113518866G>A	ENSP00000284601:p.Arg761*	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	127	37	0.291339	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149618	0.97324	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.75	3.92	0.45320	.	0.606928	0.14573	N	0.311310	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.4711	11.6747	0.51424	0.0:0.2503:0.6199:0.1298	.	.	.	.	X	761	.	ENSP00000284601:R761X	R	-	1	2	PPP1R3A	113306102	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.237000	0.32695	0.748000	0.32831	0.650000	0.86243	CGA	.	.	none		0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113518866	G	A	113518866	4	1	28	1	0	0	0	0	0	1	0	0	12371	1153	40	1	1091	1	PPP1R3A	7	113518866	Nonsense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	12836269	113518866	45619797	48	22306										
ABP1	26	hgsc.bcm.edu	37	chr7	150557673	150557673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aacgacccctggcacccgccCgtggtctttgagcagtttct	10	15	2	1	rs375543270		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr7:150557673C>T	ENST00000493429.1	+	6	2525	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	AOC1_ENST00000416793.2_Silent_p.P666P|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.P647P|AOC1_ENST00000467291.1_Silent_p.P647P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	647					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGCACCCGCCCGTGGTCTTTG	0.617																																					p.P666P		Atlas-SNP	.											.	ABP1	92	.	0			c.C1998T						PASS	.						101	116	111					7																	150557673		2085	4217	6302	SO:0001819	synonymous_variant	26	exon4			CCCGCCCGTGGTC	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1941C>T	7.37:g.150557673C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	23	9	0.391304	NM_001272072	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	5.686	0.311190	0.10789	.	.	ENSG00000002726	ENST00000487631	.	.	.	5.05	-3.73	0.04398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2137	0.25947	0.1403:0.5182:0.0:0.3415	.	.	.	.	.	-1	.	.	.	+	.	.	ABP1	150188606	0.000000	0.05858	0.964000	0.40570	0.466000	0.32739	-3.706000	0.00388	-0.720000	0.04935	-0.339000	0.08088	.	.	.	weak		0.617	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150557673	C	T	150557673	2	4	28	1	0	0	0	0	0	0	0	1	98	639	23	1		1	ABP1	7	150557673	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	37038807	150557673	8580990	49	22307										
EXTL3	2137	hgsc.bcm.edu	37	chr8	28588800	28588800	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	taccctggaatgaaattgagAcagaggccatcctgtccatt	9	10	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr8:28588800A>T	ENST00000220562.4	+	4	3111	c.2209A>T	c.(2209-2211)Aca>Tca	p.T737S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.T353S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	737					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGAAATTGAGACAGAGGCCAT	0.433																																					p.T737S		Atlas-SNP	.											.	EXTL3	83	.	0			c.A2209T						PASS	.						133	121	125					8																	28588800		2203	4300	6503	SO:0001583	missense	2137	exon4			ATTGAGACAGAGG	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2209A>T	8.37:g.28588800A>T	ENSP00000220562:p.Thr737Ser	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	76	40	0.526316	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.928506|4.928506	0.92389|0.92389	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562;ENST00000521532	.|D;D;D	.|0.92595	.|-3.07;-3.07;-3.07	5.13|5.13	5.13|5.13	0.70059|0.70059	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96734|0.96734	0.8934|0.8934	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97429|0.97429	1.0014|1.0014	5|10	.|0.62326	.|D	.|0.03	-11.0701|-11.0701	15.1147|15.1147	0.72392|0.72392	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|737	.|O43909	.|EXTL3_HUMAN	V|S	70|353;737;35	.|ENSP00000428691:T353S;ENSP00000220562:T737S;ENSP00000431013:T35S	.|ENSP00000220562:T737S	D|T	+|+	2|1	0|0	EXTL3|EXTL3	28644719|28644719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	8.989000|8.989000	0.93506|0.93506	2.150000|2.150000	0.67090|0.67090	0.477000|0.477000	0.44152|0.44152	GAC|ACA	.	.	none		0.433	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		T	28588800	A	T	28588800	3	4	28	1	0	0	0	0	1	0	0	0	5327	275	10	5	2215	5	EXTL3	8	28588800	Missense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10		28588800	117775222	50	22308										
CYP11B1	1584	hgsc.bcm.edu	37	chr8	143958274	143958274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgtggccaaccaggcccagcCgctctccaaaaagagccaag	10	15	1	1	rs200559974		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr8:143958274C>T	ENST00000292427.4	-	4	655	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R279Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R208Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	208					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAGGCCCAGCCGCTCTCCAAA	0.622									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0	5008	,	,		19702	0.001		0.0	False		,,,				2504	0.0				p.R208Q		Atlas-SNP	.											CYP11B1,NS,carcinoma,+1,1	CYP11B1	128	1	0			c.G623A						PASS	.						31	33	33					8																	143958274		2203	4300	6503	SO:0001583	missense	1584	exon4	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CCCAGCCGCTCTC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.623G>A	8.37:g.143958274C>T	ENSP00000292427:p.Arg208Gln	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	150	66	0.44	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.714828	0.89112	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.70631	-0.5;2.55;-0.5	4.3	4.3	0.51218	.	0.000000	0.47852	D	0.000205	D	0.85961	0.5819	M	0.90369	3.11	0.50313	D	0.999863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87885	0.2680	10	0.46703	T	0.11	.	14.6015	0.68445	0.0:1.0:0.0:0.0	.	279;208;208	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	208;208;279	ENSP00000292427:R208Q;ENSP00000428043:R208Q;ENSP00000366903:R279Q	ENSP00000292427:R208Q	R	-	2	0	CYP11B1	143955276	0.993000	0.37304	1.000000	0.80357	0.754000	0.42855	2.707000	0.47143	2.086000	0.62901	0.650000	0.86243	CGG	C|0.999;T|0.001	0.001	weak		0.622	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143958274	C	T	143958274	3	4	28	1	0	0	0	0	1	0	0	0	4145	652	23	1	912	1	CYP11B1	8	143958274	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	115369474	143958274	2405748	51	22309										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117998	117998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctaggaactgctggctcgccGcctcctcctcgtcttcatct	8	17	3	0	rs66612967	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr9:117998G>T	ENST00000382500.2	-	1	419	c.122C>A	c.(121-123)gCg>gAg	p.A41E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41E(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTCGCCGCCTCCTCCTC	0.682													T|||	111	0.0221645	0.0749	0.013	5008	,	,		13954	0.001		0.002	False		,,,				2504	0.0				p.A41E		Atlas-SNP	.											FOXD4_ENST00000382500,NS,carcinoma,0,3	FOXD4	75	3	1	Substitution - Missense(1)	skin(1)	c.C122A						scavenged	.						38	53	48					9																	117998		2203	4298	6501	SO:0001583	missense	2298	exon1			CTCGCCGCCTCCT	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.122C>A	9.37:g.117998G>T	ENSP00000371940:p.Ala41Glu	Somatic	282	20	0.070922		WXS	Illumina HiSeq	Phase_I	186	21	0.112903	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	50	0.022893772893772892	43	0.08739837398373984	4	0.011049723756906077	3	0.005244755244755245	0	0.0	.	0.012	-1.673624	0.00758	.	.	ENSG00000170122	ENST00000382500	D	0.94457	-3.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.13030	0.0316	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57458	-0.7808	9	0.02654	T	1	.	4.5559	0.12136	0.0:0.0:0.3427:0.6573	.	41	Q12950	FOXD4_HUMAN	E	41	ENSP00000371940:A41E	ENSP00000371940:A41E	A	-	2	0	FOXD4	107998	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.379000	0.07437	0.095000	0.17434	-1.316000	0.01300	GCG	G|0.977;T|0.023	0.023	strong		0.682	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117998	G	T	117998	3	4	28	1	0	0	0	0	1	0	0	0	5999	1087	38	4	1201	4	FOXD4	9	117998	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10		117998	141095433	52	22310										
SETX	23064	hgsc.bcm.edu	37	chr9	135221697	135221698	+	Frame_Shift_Ins	INS	-	-	GGAACTC													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	atttcagtatttcaagaagaINSggaactcgaagcttattttc							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr9:135221697_135221698insGGAACTC	ENST00000224140.5	-	4	520_521	c.338_339insGAGTTCC	c.(337-339)cctfs	p.-113fs	SETX_ENST00000372169.2_Frame_Shift_Ins_p.-113fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.-113fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin						cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTCAAGAAGAGGAACTCGAAG	0.342																																					p.P113fs		Pindel,Atlas-Indel	.											SETX,NS,carcinoma,-2,1	SETX	234	1	0			c.339_340insGAGTTCC						PASS	.																																			SO:0001589	frameshift_variant	23064	exon4			.	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.332_338dupGAGTTCC	9.37:g.135221698_135221704dupGGAACTC	ENSP00000224140:p.Pro113fs	Somatic	144	.	.		WXS	Illumina HiSeq	Phase_I	85	27	0.318	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Ins	INS	ENST00000224140.5	37	CCDS6947.1																																																																																			.	.	none		0.342	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		GGAACTC	135221698	-	GGAACTC	135221697	7	5	28	1	0	1	1	0	0	0	0	0	14141	291	11	0	7786	0	SETX	9	135221697	Frame_Shift_Ins	INS	-	TCGA-GS-A9TQ-01A-11D-A382-10	135103699	135221697	5991734	53	22311										
KIF5B	3799	hgsc.bcm.edu	37	chr10	32307310	32307310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttgtgtaaagtctgaagttcTtttgccttggattaagaaca	9	5	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:32307310T>C	ENST00000302418.4	-	22	2830	c.2373A>G	c.(2371-2373)aaA>aaG	p.K791K	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	791					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTGAAGTTCTTTTGCCTTGG	0.373			T	"RET, ALK"	NSCLC																																p.K791K		Atlas-SNP	.		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	KIF5B	81	.	0			c.A2373G						PASS	.						138	135	136					10																	32307310		2203	4300	6503	SO:0001819	synonymous_variant	3799	exon22			AAGTTCTTTTGCC	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2373A>G	10.37:g.32307310T>C		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	200	43	0.215	NM_004521	A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	CCDS7171.1																																																																																			.	.	none		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		C	32307310	T	C	32307310	2	2	28	1	0	0	0	0	0	0	0	1	8306	1606	56	3		3	KIF5B	10	32307310	Silent	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10		32307310	103227437	54	22312										
JMJD1C	221037	hgsc.bcm.edu	37	chr10	64966940	64966940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttcagtctcactggcattacTacttttatactgagctgcag	7	10	2	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:64966940T>C	ENST00000399262.2	-	10	4707	c.4489A>G	c.(4489-4491)Agt>Ggt	p.S1497G	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1315G|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1278G|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1278G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1497					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGGCATTACTACTTTTATAC	0.408																																					p.S1497G		Atlas-SNP	.											.	JMJD1C	347	.	0			c.A4489G						PASS	.						105	100	102					10																	64966940		1886	4113	5999	SO:0001583	missense	221037	exon10			CATTACTACTTTT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4489A>G	10.37:g.64966940T>C	ENSP00000382204:p.Ser1497Gly	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	177	27	0.152542	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490177	0.26686	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56275	0.84;0.47;2.38;0.82	5.75	4.6	0.57074	.	0.145674	0.64402	D	0.000008	T	0.40767	0.1130	L	0.29908	0.895	0.40990	D	0.984842	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.11329	0.004;0.006;0.004	T	0.36792	-0.9733	10	0.52906	T	0.07	-16.6876	11.907	0.52717	0.0:0.0691:0.0:0.9309	.	1038;1497;1315	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	G	1497;1278;1278;1315	ENSP00000382204:S1497G;ENSP00000384990:S1278G;ENSP00000382195:S1278G;ENSP00000444682:S1315G	ENSP00000382195:S1278G	S	-	1	0	JMJD1C	64636946	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.239000	0.51360	2.194000	0.70268	0.482000	0.46254	AGT	.	.	none		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		C	64966940	T	C	64966940	3	2	28	1	0	0	0	0	1	0	0	0	7950	1522	53	3	3201	3	JMJD1C	10	64966940	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	32659630	64966940	70567807	55	22313										
GPR120	338557	hgsc.bcm.edu	37	chr10	95335856	95335856	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttttgtaactaggaaatttcGatttgcacactgatttggcc	8	7	0	1	rs377477484		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:95335856G>T	ENST00000371483.4	+	2	632	c.576G>T	c.(574-576)tcG>tcT	p.S192S	FFAR4_ENST00000604414.1_Silent_p.S192S|FFAR4_ENST00000371481.4_Silent_p.S192S	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	192					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										AGGAAATTTCGATTTGCACAC	0.433																																					p.S192S		Atlas-SNP	.											O3FAR1,NS,malignant_melanoma,+1,2	.	.	2	0			c.G576T						PASS	.						259	227	238					10																	95335856		2203	4300	6503	SO:0001819	synonymous_variant	338557	exon2			AATTTCGATTTGC		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.576G>T	10.37:g.95335856G>T		Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	353	42	0.11898	NM_001195755	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	CCDS31248.1																																																																																			.	.	none		0.433	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		T	95335856	G	T	95335856	2	4	28	1	0	0	0	0	0	0	0	1	6636	1045	37	4		4	GPR120	10	95335856	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	30368916	95335856	40198891	56	22314										
HPSE2	60495	hgsc.bcm.edu	37	chr10	100995457	100995457	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	agcctgggaggaaagggagaGatggagcaacagagccaagt	17	6	0	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:100995457G>T	ENST00000370552.3	-	1	162	c.103C>A	c.(103-105)Ctc>Atc	p.L35I	HPSE2_ENST00000370546.1_Missense_Mutation_p.L35I|HPSE2_ENST00000404542.1_Missense_Mutation_p.L35I|HPSE2_ENST00000370549.1_Missense_Mutation_p.L35I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	35					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAAAGGGAGAGATGGAGCAAC	0.592																																					p.L35I		Atlas-SNP	.											.	HPSE2	203	.	0			c.C103A						PASS	.						86	90	88					10																	100995457		2203	4300	6503	SO:0001583	missense	60495	exon1			GGGAGAGATGGAG	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.103C>A	10.37:g.100995457G>T	ENSP00000359583:p.Leu35Ile	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	157	25	0.159236	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.680987	0.47886	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00473	7.18;7.18;7.18;7.18	5.8	4.9	0.64082	.	0.447080	0.23696	N	0.045468	T	0.00328	0.0010	L	0.36672	1.1	0.20821	N	0.999848	B;B;B;B	0.26809	0.16;0.16;0.069;0.041	B;B;B;B	0.21917	0.037;0.037;0.037;0.016	T	0.44667	-0.9313	10	0.26408	T	0.33	-10.382	7.4123	0.27023	0.2518:0.0:0.7482:0.0	.	35;35;35;35	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	I	35	ENSP00000359583:L35I;ENSP00000359580:L35I;ENSP00000359577:L35I;ENSP00000384384:L35I	ENSP00000359577:L35I	L	-	1	0	HPSE2	100985447	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	1.007000	0.29860	1.474000	0.48178	0.561000	0.74099	CTC	.	.	none		0.592	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100995457	G	T	100995457	3	4	28	1	0	0	0	0	1	0	0	0	7345	942	33	4	1761	4	HPSE2	10	100995457	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	5659601	100995457	34539290	57	22315										
PDCD11	22984	hgsc.bcm.edu	37	chr10	105184917	105184917	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cagggtgtctccctaaccctCaagaccacagaaccaggagt	9	14	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:105184917C>G	ENST00000369797.3	+	20	3034	c.2940C>G	c.(2938-2940)ctC>ctG	p.L980L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	980					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCCTAACCCTCAAGACCACAG	0.587																																					p.L980L		Atlas-SNP	.											.	PDCD11	160	.	0			c.C2940G						PASS	.						86	75	79					10																	105184917		2203	4300	6503	SO:0001819	synonymous_variant	22984	exon20			AACCCTCAAGACC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2940C>G	10.37:g.105184917C>G		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	94	18	0.191489	NM_014976	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																			.	.	none		0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105184917	C	G	105184917	2	3	28	1	0	0	0	0	0	0	0	1	11617	813	29	4		4	PDCD11	10	105184917	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	4189460	105184917	30349830	58	22316										
INPP5F	22876	hgsc.bcm.edu	37	chr10	121556996	121556996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgcgctataaacgaagaggaGtggataaaaatggaaatgtt	12	3	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr10:121556996G>A	ENST00000361976.2	+	8	1058	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	INPP5F_ENST00000369083.3_Missense_Mutation_p.V298M	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACGAAGAGGAGTGGATAAAAA	0.353																																					p.V298M		Atlas-SNP	.											.	INPP5F	112	.	0			c.G892A						PASS	.						89	80	83					10																	121556996		2203	4300	6503	SO:0001583	missense	22876	exon8			AGAGGAGTGGATA	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.892G>A	10.37:g.121556996G>A	ENSP00000354519:p.Val298Met	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	174	26	0.149425	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767250	0.90020	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.60171	0.21;0.21	5.65	5.65	0.86999	Synaptojanin, N-terminal (2);	0.061078	0.64402	D	0.000003	T	0.79834	0.4514	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.81996	-0.0676	10	0.87932	D	0	-20.0928	20.0781	0.97751	0.0:0.0:1.0:0.0	.	298	Q9Y2H2	SAC2_HUMAN	M	298	ENSP00000354519:V298M;ENSP00000358079:V298M	ENSP00000354519:V298M	V	+	1	0	INPP5F	121546986	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.172000	0.77604	2.817000	0.96982	0.563000	0.77884	GTG	.	.	none		0.353	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		A	121556996	G	A	121556996	3	1	28	1	0	0	0	0	1	0	0	0	7758	1029	36	2	922	2	INPP5F	10	121556996	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	16372079	121556996	13977751	59	22317										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	410	17	0.0414634		WXS	Illumina HiSeq	Phase_I	373	22	0.0589812	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	28	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10		55655597	79350919	60	22318										
OR5R1	219479	hgsc.bcm.edu	37	chr11	56184896	56184896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	taaaatacagaagccatcttGtctgtgtccaaggagtgatt	9	7	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr11:56184896G>T	ENST00000312253.1	-	1	812	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAGCCATCTTGTCTGTGTCCA	0.423																																					p.D271E		Atlas-SNP	.											.	OR5R1	83	.	0			c.C813A						PASS	.						177	166	170					11																	56184896		2201	4296	6497	SO:0001583	missense	219479	exon1			CATCTTGTCTGTG	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.813C>A	11.37:g.56184896G>T	ENSP00000308595:p.Asp271Glu	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	165	36	0.218182	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813840	0.32053	.	.	ENSG00000174942	ENST00000312253	T	0.00227	8.5	5.62	-2.82	0.05787	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34507	U	0.003901	T	0.00300	0.0009	L	0.59912	1.85	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.53549	-0.8423	10	0.51188	T	0.08	-16.7854	2.7811	0.05361	0.3173:0.1061:0.4679:0.1086	.	271	Q8NH85	OR5R1_HUMAN	E	271	ENSP00000308595:D271E	ENSP00000308595:D271E	D	-	3	2	OR5R1	55941472	0.792000	0.28813	0.480000	0.27341	0.008000	0.06430	-0.321000	0.08018	-0.445000	0.07159	-0.925000	0.02716	GAC	.	.	none		0.423	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		T	56184896	G	T	56184896	3	4	28	1	0	0	0	0	1	0	0	0	11180	1368	48	4	163	4	OR5R1	11	56184896	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	529299	56184896	78821620	61	22319										
FAU	740	hgsc.bcm.edu	37	chr11	64889115	64889115	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cctccagtgaggctacatgaGcctacagggaaagataaggc	12	10	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr11:64889115G>C	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_Splice_Site_p.A26G|MRPL49_ENST00000531705.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000434372.2_Splice_Site_p.A26G|FAU_ENST00000529639.1_Splice_Site_p.A26G|FAU_ENST00000525297.1_Intron|FAU_ENST00000279259.3_Splice_Site_p.A26G|FAU_ENST00000527548.1_Splice_Site_p.A26G|FAU_ENST00000529259.1_Splice_Site_p.A26G	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GGCTACATGAGCCTACAGGGA	0.612																																					p.A26G		Atlas-SNP	.											.	FAU	17	.	0			c.C77G						PASS	.						59	52	54					11																	64889115		2201	4297	6498	SO:0001631	upstream_gene_variant	2197	exon3			ACATGAGCCTACA		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889115G>C	Exception_encountered	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	76	14	0.184211	NM_001997	B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452215	0.43531	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.2	0.36748	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.257041	0.44688	D	0.000439	T	0.78214	0.4248	M	0.78637	2.42	0.29175	N	0.876885	B;P	0.40000	0.015;0.698	B;P	0.46975	0.075;0.533	T	0.74372	-0.3687	10	0.72032	D	0.01	.	9.7529	0.40485	0.0:0.1301:0.4671:0.4028	.	26;26	E9PMS9;P35544	.;UBIM_HUMAN	G	26	ENSP00000435370:A26G;ENSP00000431822:A26G;ENSP00000434440:A26G;ENSP00000279259:A26G;ENSP00000434680:A26G;ENSP00000433139:A26G;ENSP00000413848:A26G	ENSP00000279259:A26G	A	-	2	0	FAU	64645691	1.000000	0.71417	0.997000	0.53966	0.191000	0.23601	3.507000	0.53371	0.425000	0.26087	-0.169000	0.13324	GCT	.	.	none		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		C	64889115	G	C	64889115	1	2	28	0	1	0	0	0	0	0	0	0	5694	985	34	4		4	FAU	11	64889115	5'Flank	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	8704219	64889115	70117401	62	22320										
ANO1	55107	hgsc.bcm.edu	37	chr11	70009435	70009435	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgtacattttccgttccttcCgaatggaagaggtaaccgaa	9	9	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr11:70009435C>T	ENST00000355303.5	+	19	2244	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	ANO1_ENST00000530676.1_Nonsense_Mutation_p.R501*|ANO1_ENST00000398543.2_Nonsense_Mutation_p.R501*|ANO1_ENST00000316296.5_Nonsense_Mutation_p.R589*|ANO1_ENST00000531349.1_Nonsense_Mutation_p.R356*|ANO1_ENST00000538023.1_Nonsense_Mutation_p.R647*	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	647					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCGTTCCTTCCGAATGGAAGA	0.517																																					p.R647X		Atlas-SNP	.											ANO1_ENST00000355303,NS,carcinoma,-1,2	ANO1	156	2	0			c.C1939T						PASS	.						65	68	67					11																	70009435		1947	4128	6075	SO:0001587	stop_gained	55107	exon19			TCCTTCCGAATGG	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1939C>T	11.37:g.70009435C>T	ENSP00000347454:p.Arg647*	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	100	17	0.17	NM_018043	A8KAM3|Q8IYY8|Q8N7V3	Nonsense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291684	0.95546	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	.	.	.	5.08	5.08	0.68730	.	0.137550	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8074	0.63240	0.1531:0.8469:0.0:0.0	.	.	.	.	X	647;647;501;405;589;501;356	.	.	R	+	1	2	ANO1	69687083	1.000000	0.71417	0.999000	0.59377	0.440000	0.31957	2.470000	0.45119	2.535000	0.85469	0.655000	0.94253	CGA	.	.	none		0.517	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		T	70009435	C	T	70009435	4	4	28	1	0	0	0	0	0	1	0	0	695	644	23	1	2013	1	ANO1	11	70009435	Nonsense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	5120320	70009435	64997081	63	22321										
MLL2	8085	hgsc.bcm.edu	37	chr12	49420424	49420424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aaaatggtagacattggggcAacgcatgcgattgcagctgc	13	8	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr12:49420424A>G	ENST00000301067.7	-	48	15324	c.15325T>C	c.(15325-15327)Tgc>Cgc	p.C5109R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5109			C -> F (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACATTGGGGCAACGCATGCGA	0.552																																					p.C5109R		Atlas-SNP	.											MLL2_ENST00000301067,NS,carcinoma,+1,2	MLL2	1173	2	0			c.T15325C						PASS	.						66	67	67					12																	49420424		2159	4254	6413	SO:0001583	missense	8085	exon48			TGGGGCAACGCAT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15325T>C	12.37:g.49420424A>G	ENSP00000301067:p.Cys5109Arg	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	70	17	0.242857	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735995	0.30774	.	.	ENSG00000167548	ENST00000301067	D	0.94330	-3.4	4.58	4.58	0.56647	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.39909	N	0.001227	D	0.97623	0.9221	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98595	1.0656	10	0.87932	D	0	.	13.246	0.60024	1.0:0.0:0.0:0.0	.	5109	O14686	MLL2_HUMAN	R	5109	ENSP00000301067:C5109R	ENSP00000301067:C5109R	C	-	1	0	MLL2	47706691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.844000	0.53588	0.459000	0.35465	TGC	.	.	none		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49420424	A	G	49420424	3	3	28	1	0	0	0	0	1	0	0	0	9621	130	5	2	1316	2	MLL2	12	49420424	Missense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10		49420424	84431471	64	22322										
MLL2	8085	hgsc.bcm.edu	37	chr12	49428192	49428192	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cctcccacgccccatactcaCtgatcactccctgagcaaaa	4	19	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr12:49428192C>T	ENST00000301067.7	-	37	10507		c.e37+1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCATACTCACTGATCACTCC	0.572																																					.		Atlas-SNP	.											.	MLL2	1173	.	0			c.10507+1G>A						PASS	.						43	46	45					12																	49428192		1961	4160	6121	SO:0001630	splice_region_variant	8085	exon38			TACTCACTGATCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10507+1G>A	12.37:g.49428192C>T		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	32	20	0.625	NM_003482	O14687	Splice_Site	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011341	0.93346	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5761	0.91155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47714459	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.305000	0.78891	2.779000	0.95612	0.655000	0.94253	.	.	.	none		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	T	49428192	C	T	49428192	5	4	28	1	0	0	0	0	0	0	1	0	9621	579	20	2	6177	2	MLL2	12	49428192	Splice_Site	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	7768	49428192	84423703	65	22323										
KRT3	3850	hgsc.bcm.edu	37	chr12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gccagagatggagccaaagcCgctgccaccgctgaaaccgc	12	15	0	2	rs570613061|rs60125653	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																					p.G588S		Atlas-SNP	.											KRT3,rectum,carcinoma,0,1	KRT3	65	1	0			c.G1762A						PASS	.						14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850	exon9			CAAAGCCGCTGCC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	12.37:g.53183951C>T	ENSP00000413479:p.Gly588Ser	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	42	8	0.190476	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC	.	.	none		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183951	C	T	53183951	3	4	28	1	0	0	0	0	1	0	0	0	8466	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	3755759	53183951	80667944	66	22324										
BCL7A	605	hgsc.bcm.edu	37	chr12	122460029	122460029	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gtcggttcgagccgagacgaGgagccgggccaaagatgata	16	9	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr12:122460029G>C	ENST00000261822.4	+	1	238	c.32G>C	c.(31-33)aGg>aCg	p.R11T	BCL7A_ENST00000538010.1_Missense_Mutation_p.R11T|RP11-87C12.5_ENST00000538710.1_lincRNA	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	11					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GCCGAGACGAGGAGCCGGGCC	0.721			T	MYC	BNHL																																p.R11T	GBM(17;197 467 16477 23242 44349)	Atlas-SNP	.		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	BCL7A,NS,lymphoid_neoplasm,+1,2	BCL7A	31	2	0			c.G32C						scavenged	.						22	22	22					12																	122460029		2199	4296	6495	SO:0001583	missense	605	exon1			AGACGAGGAGCCG	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.32G>C	12.37:g.122460029G>C	ENSP00000261822:p.Arg11Thr	Somatic	45	1	0.0222222		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179630	0.57800	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.79653	-1.29;-1.14	4.24	2.39	0.29439	.	0.000000	0.85682	U	0.000000	D	0.87549	0.6205	M	0.79926	2.475	0.58432	D	0.999999	B;D	0.61080	0.322;0.989	B;D	0.75020	0.192;0.985	D	0.85773	0.1356	10	0.87932	D	0	.	8.2255	0.31566	0.1964:0.0:0.8036:0.0	.	11;11	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	T	11	ENSP00000445868:R11T;ENSP00000261822:R11T	ENSP00000261822:R11T	R	+	2	0	BCL7A	120944412	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	7.291000	0.78721	0.271000	0.22005	0.460000	0.39030	AGG	.	.	none		0.721	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			C	122460029	G	C	122460029	3	2	28	1	0	0	0	0	1	0	0	0	1378	1000	35	4	34	4	BCL7A	12	122460029	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	69276078	122460029	11391866	67	22325										
PRKD1	5587	hgsc.bcm.edu	37	chr14	30046638	30046638	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gattttgcattccagctctcGcaaatctaaccaggtctgat	7	11	3	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr14:30046638G>T	ENST00000331968.5	-	18	2774	c.2545C>A	c.(2545-2547)Cga>Aga	p.R849R	PRKD1_ENST00000415220.2_Silent_p.R857R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	849					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCAGCTCTCGCAAATCTAAC	0.453																																					p.R849R		Atlas-SNP	.											PRKD1_ENST00000331968,NS,carcinoma,0,2	PRKD1	316	2	0			c.C2545A						PASS	.						99	93	95					14																	30046638		2203	4300	6503	SO:0001819	synonymous_variant	5587	exon18			GCTCTCGCAAATC		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2545C>A	14.37:g.30046638G>T		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	114	30	0.263158	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																			.	.	none		0.453	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30046638	G	T	30046638	2	4	28	1	0	0	0	0	0	0	0	1	12518	1095	38	4		4	PRKD1	14	30046638	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10		30046638	77302902	68	22326										
SPTB	6710	hgsc.bcm.edu	37	chr14	65253667	65253667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	atccacacgggcctggatggCggccacgtcacgctccagcc	12	17	1	0	rs151112486	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr14:65253667C>T	ENST00000389721.5	-	15	3048	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	SPTB_ENST00000556626.1_Missense_Mutation_p.A1006T|SPTB_ENST00000389722.3_Missense_Mutation_p.A1006T|SPTB_ENST00000389720.3_Missense_Mutation_p.A1006T|SPTB_ENST00000542895.1_Missense_Mutation_p.A1006T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1006					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTGGATGGCGGCCACGTCA	0.592																																					p.A1006T		Atlas-SNP	.											.	SPTB	378	.	0			c.G3016A						PASS	.		THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	85	79	81		3016,3016	4.9	0.9	14	dbSNP_134	81	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	58,58	0,15,6488	TT,TC,CC		0.1279,0.0908,0.1153	probably-damaging,probably-damaging	1006/2138,1006/2329	65253667	15,12991	2203	4300	6503	SO:0001583	missense	6710	exon15			GGATGGCGGCCAC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3016G>A	14.37:g.65253667C>T	ENSP00000374371:p.Ala1006Thr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	38	16	0.421053	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079450	0.94050	9.08E-4	0.001279	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.83450	0.0048	10	0.87932	D	0	.	17.1796	0.86851	0.0:1.0:0.0:0.0	.	1006;1010	P11277;Q59FP5	SPTB1_HUMAN;.	T	1010;1006;1006;1006;1006;1006	ENSP00000374372:A1006T;ENSP00000451752:A1006T;ENSP00000374371:A1006T;ENSP00000443882:A1006T;ENSP00000374370:A1006T	ENSP00000374370:A1006T	A	-	1	0	SPTB	64323420	1.000000	0.71417	0.946000	0.38457	0.843000	0.47879	6.078000	0.71282	2.430000	0.82344	0.549000	0.68633	GCC	C|0.999;T|0.001	0.001	strong		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65253667	C	T	65253667	3	4	28	1	0	0	0	0	1	0	0	0	15117	768	27	1	4123	1	SPTB	14	65253667	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	35207029	65253667	42095873	69	22327										
FAM161B	145483	hgsc.bcm.edu	37	chr14	74411424	74411424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cggccttcttccgggcctcgCgcagcgtcatgcggaatggc	14	15	2	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr14:74411424C>T	ENST00000534936.1	-	3	644	c.539G>A	c.(538-540)cGc>cAc	p.R180H	FAM161B_ENST00000286544.3_Missense_Mutation_p.R243H			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	180										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CCGGGCCTCGCGCAGCGTCAT	0.672																																					p.R243H		Atlas-SNP	.											.	FAM161B	67	.	0			c.G728A						PASS	.						26	27	26					14																	74411424		2203	4300	6503	SO:0001583	missense	145483	exon3			GCCTCGCGCAGCG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.539G>A	14.37:g.74411424C>T	ENSP00000445326:p.Arg180His	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	89	19	0.213483	NM_152445	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035056	0.75617	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.76316	-1.01;-1.01	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	D	0.89935	0.6859	M	0.87682	2.9	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.91329	0.5088	10	0.87932	D	0	-7.9894	18.8556	0.92251	0.0:1.0:0.0:0.0	.	180	Q96MY7	F161B_HUMAN	H	243;180	ENSP00000286544:R243H;ENSP00000445326:R180H	ENSP00000286544:R243H	R	-	2	0	FAM161B	73481177	1.000000	0.71417	0.996000	0.52242	0.200000	0.23975	5.085000	0.64468	2.688000	0.91661	0.563000	0.77884	CGC	.	.	none		0.672	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		T	74411424	C	T	74411424	3	4	28	1	0	0	0	0	1	0	0	0	5473	768	27	1	1432	1	FAM161B	14	74411424	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	9157757	74411424	32938116	70	22328										
ENTPD5	957	hgsc.bcm.edu	37	chr14	74449761	74449761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctttgtgttctggcagtaagCgtagtcctgctgttgccttt	11	9	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr14:74449761C>T	ENST00000334696.6	-	6	720	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ENTPD5_ENST00000557325.1_Missense_Mutation_p.R134H	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	134					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGGCAGTAAGCGTAGTCCTGC	0.473																																					p.R134H		Atlas-SNP	.											.	ENTPD5	26	.	0			c.G401A						PASS	.						237	220	226					14																	74449761		2203	4300	6503	SO:0001583	missense	957	exon6			AGTAAGCGTAGTC	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.401G>A	14.37:g.74449761C>T	ENSP00000335246:p.Arg134His	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	99	20	0.20202	NM_001249	A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621905	0.87460	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	T;T;T	0.41065	1.01;1.01;1.01	4.99	4.99	0.66335	.	0.055041	0.85682	D	0.000000	T	0.77725	0.4173	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86237	0.1641	10	0.87932	D	0	-9.958	16.2422	0.82418	0.0:1.0:0.0:0.0	.	134;134	O75356;G3V4I0	ENTP5_HUMAN;.	H	134	ENSP00000451810:R134H;ENSP00000335246:R134H;ENSP00000451591:R134H	ENSP00000335246:R134H	R	-	2	0	ENTPD5	73519514	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	6.469000	0.73555	2.593000	0.87608	0.655000	0.94253	CGC	.	.	none		0.473	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		T	74449761	C	T	74449761	3	4	28	1	0	0	0	0	1	0	0	0	5142	768	27	1	929	1	ENTPD5	14	74449761	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	38337	74449761	32899779	71	22329										
SPTBN5	51332	hgsc.bcm.edu	37	chr15	42172481	42172482	+	Frame_Shift_Ins	INS	-	-	ATGG													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	tgcagaaaccgaacagggccINSatggcctcctccaaccgggc							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr15:42172481_42172482insATGG	ENST00000320955.6	-	14	2914_2915	c.2687_2688insCCAT	c.(2686-2688)atgfs	p.M896fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	896					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAACAGGGCCATGGCCTCCTC	0.668																																					p.M861fs		Pindel,Atlas-Indel	.											.	SPTBN5	171	.	0			c.2583_2584insCCAT						PASS	.																																			SO:0001589	frameshift_variant	51332	exon14			.	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2684_2687dupCCAT	15.37:g.42172482_42172485dupATGG	ENSP00000317790:p.Met896fs	Somatic	111	.	.		WXS	Illumina HiSeq	Phase_I	69	18	0.261	NM_016642		Frame_Shift_Ins	INS	ENST00000320955.6	37																																																																																				.	.	none		0.668	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		ATGG	42172482	-	ATGG	42172481	7	5	28	1	0	1	1	0	0	0	0	0	15121	594	21	0	8556	0	SPTBN5	15	42172481	Frame_Shift_Ins	INS	-	TCGA-GS-A9TQ-01A-11D-A382-10		42172481	60358911	72	22330										
SPG11	80208	hgsc.bcm.edu	37	chr15	44914049	44914049	+	Missense_Mutation	SNP	T	T	G													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	caattctatggtcctgtttgTtaaattcatctttacaatca							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr15:44914049T>G	ENST00000261866.7	-	14	2544	c.2528A>C	c.(2527-2529)aAc>aCc	p.N843T	SPG11_ENST00000535302.2_Missense_Mutation_p.N843T|SPG11_ENST00000558319.1_Missense_Mutation_p.N843T|SPG11_ENST00000427534.2_Missense_Mutation_p.N843T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	843					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTCCTGTTTGTTAAATTCATC	0.373																																					p.N843T		Atlas-SNP	.											.	SPG11	207	.	0			c.A2528C						PASS	.						101	91	94					15																	44914049		2198	4298	6496	SO:0001583	missense	80208	exon14			TGTTTGTTAAATT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2528A>C	15.37:g.44914049T>G	ENSP00000261866:p.Asn843Thr	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	121	31	0.256198	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	7.050	0.564336	0.13498	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77098	-1.07;-0.81;-0.8	5.76	0.577	0.17385	.	1.017420	0.07812	N	0.958341	T	0.61652	0.2364	L	0.43152	1.355	0.09310	N	1	B;B;B	0.13594	0.005;0.008;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.40270	-0.9572	10	0.09084	T	0.74	.	0.8387	0.01145	0.1525:0.2224:0.1583:0.4668	.	843;843;843	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	T	843	ENSP00000261866:N843T;ENSP00000445278:N843T;ENSP00000396110:N843T	ENSP00000261866:N843T	N	-	2	0	SPG11	42701341	0.000000	0.05858	0.984000	0.44739	0.994000	0.84299	-0.031000	0.12287	0.422000	0.26005	0.533000	0.62120	AAC	.	.	none		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44914049	T	G	44914049	3	3	28	1	0	0	0	0	1	0	0	0	15040	1725	60	5	4911	5	SPG11	15	44914049	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	2741568	44914049	57617343	73	22331	447	2								
SPG11	80208	hgsc.bcm.edu	37	chr15	44914054	44914054	+	Missense_Mutation	SNP	T	T	A													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctatggtcctgtttgttaaaTtcatctttacaatcatattt							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr15:44914054T>A	ENST00000261866.7	-	14	2539	c.2523A>T	c.(2521-2523)gaA>gaT	p.E841D	SPG11_ENST00000535302.2_Missense_Mutation_p.E841D|SPG11_ENST00000558319.1_Missense_Mutation_p.E841D|SPG11_ENST00000427534.2_Missense_Mutation_p.E841D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	841					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTTGTTAAATTCATCTTTAC	0.363																																					p.E841D		Atlas-SNP	.											.	SPG11	207	.	0			c.A2523T						PASS	.						98	88	91					15																	44914054		2198	4298	6496	SO:0001583	missense	80208	exon14			GTTAAATTCATCT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2523A>T	15.37:g.44914054T>A	ENSP00000261866:p.Glu841Asp	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	126	30	0.238095	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.950200	0.53186	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78595	-1.19;-0.94;-0.93	5.76	3.48	0.39840	.	0.413681	0.26432	N	0.024404	T	0.64472	0.2601	L	0.36672	1.1	0.47441	D	0.999429	B;B;B	0.20988	0.005;0.05;0.005	B;B;B	0.17722	0.008;0.019;0.008	T	0.52859	-0.8519	10	0.23302	T	0.38	.	7.7834	0.29078	0.0:0.1583:0.0:0.8417	.	841;841;841	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	D	841	ENSP00000261866:E841D;ENSP00000445278:E841D;ENSP00000396110:E841D	ENSP00000261866:E841D	E	-	3	2	SPG11	42701346	0.022000	0.18835	0.992000	0.48379	0.993000	0.82548	0.240000	0.18042	0.472000	0.27344	0.533000	0.62120	GAA	.	.	none		0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44914054	T	A	44914054	3	1	28	1	0	0	0	0	1	0	0	0	15040	1490	52	5	4916	5	SPG11	15	44914054	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	5	44914054	57617338	74	22332	447	2								
MYO9A	4649	hgsc.bcm.edu	37	chr15	72122636	72122636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gacctggatagtttcctcgaCgaatacgcccctttccctgc	8	15	0	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr15:72122636C>T	ENST00000356056.5	-	40	7326	c.6854G>A	c.(6853-6855)cGt>cAt	p.R2285H	MYO9A_ENST00000564571.1_Missense_Mutation_p.R2285H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2356H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2266H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2285	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						GTTTCCTCGACGAATACGCCC	0.443																																					p.R2285H		Atlas-SNP	.											MYO9A,colon,carcinoma,-1,2	MYO9A	203	2	0			c.G6854A						scavenged	.						92	92	92					15																	72122636		2199	4297	6496	SO:0001583	missense	4649	exon40			CCTCGACGAATAC	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.6854G>A	15.37:g.72122636C>T	ENSP00000348349:p.Arg2285His	Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	58	17	0.293103	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779952	0.31502	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84730	-1.89;-1.89;-1.88	4.73	1.83	0.25207	.	.	.	.	.	T	0.73837	0.3638	N	0.25144	0.715	0.28282	N	0.923939	B;B	0.14012	0.009;0.0	B;B	0.04013	0.001;0.001	T	0.60372	-0.7276	9	0.30078	T	0.28	.	9.8686	0.41160	0.0:0.7822:0.0:0.2178	.	2285;2049	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	H	2285;2356;2266	ENSP00000348349:R2285H;ENSP00000399162:R2356H;ENSP00000398250:R2266H	ENSP00000348349:R2285H	R	-	2	0	MYO9A	69909690	0.020000	0.18652	0.797000	0.32132	0.997000	0.91878	0.416000	0.21198	0.319000	0.23209	0.655000	0.94253	CGT	.	.	none		0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72122636	C	T	72122636	3	4	28	1	0	0	0	0	1	0	0	0	10084	536	19	1	804	1	MYO9A	15	72122636	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	27208582	72122636	30408756	75	22333										
ITFG1	81533	hgsc.bcm.edu	37	chr16	47494777	47494777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	agcacgaagagatccgtctgCttgtcggagttgaggtcccc	13	11	1	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr16:47494777C>T	ENST00000320640.6	-	1	408	c.180G>A	c.(178-180)aaG>aaA	p.K60K	PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000566044.1_5'Flank|ITFG1_ENST00000544001.2_Intron|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000323584.5_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	60						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GATCCGTCTGCTTGTCGGAGT	0.672																																					p.K60K		Atlas-SNP	.											.	ITFG1	49	.	0			c.G180A						PASS	.						40	31	34					16																	47494777		2201	4300	6501	SO:0001819	synonymous_variant	81533	exon1			CGTCTGCTTGTCG	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.180G>A	16.37:g.47494777C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	94	23	0.244681	NM_030790	Q96SR4|Q9BRE2|Q9H2V9	Silent	SNP	ENST00000320640.6	37	CCDS10728.1																																																																																			.	.	none		0.672	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		T	47494777	C	T	47494777	2	4	28	1	0	0	0	0	0	0	0	1	7869	796	28	2		2	ITFG1	16	47494777	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10		47494777	42859976	76	22334										
FANCA	2175	hgsc.bcm.edu	37	chr16	89880941	89880941	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aacttacctataaatgaactAgaatgattagcataggcctc	6	8	0	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr16:89880941A>T	ENST00000389301.3	-	3	300	c.270T>A	c.(268-270)tcT>tcA	p.S90S	FANCA_ENST00000389302.3_Silent_p.S90S|FANCA_ENST00000543736.1_Silent_p.S90S|FANCA_ENST00000568369.1_Silent_p.S90S|FANCA_ENST00000534992.1_Silent_p.S90S|FANCA_ENST00000563673.1_Silent_p.S90S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	90					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TAAATGAACTAGAATGATTAG	0.328			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S90S		Atlas-SNP	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	FANCA	99	.	0			c.T270A						PASS	.						90	88	89					16																	89880941		2198	4300	6498	SO:0001819	synonymous_variant	2175	exon3	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGAACTAGAATGA	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.270T>A	16.37:g.89880941A>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	83	18	0.216867	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																			.	.	none		0.328	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89880941	A	T	89880941	2	4	28	1	0	0	0	0	0	0	0	1	5662	407	15	5		5	FANCA	16	89880941	Silent	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	42386164	89880941	473812	77	22335										
ZNF286A	57335	hgsc.bcm.edu	37	chr17	15619433	15619433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gcaagatttttccaaagcagAatcatgcaaagttgcaataa	7	7	1	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr17:15619433A>G	ENST00000464847.2	+	5	948	c.395A>G	c.(394-396)gAa>gGa	p.E132G	ZNF286A_ENST00000413242.2_Missense_Mutation_p.E132G|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E132G|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E132G|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E122G			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCCAAAGCAGAATCATGCAAA	0.393																																					p.E132G		Atlas-SNP	.											.	ZNF286A	58	.	0			c.A395G						PASS	.						49	49	49					17																	15619433		2201	4284	6485	SO:0001583	missense	57335	exon6			AAGCAGAATCATG	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.395A>G	17.37:g.15619433A>G	ENSP00000464218:p.Glu132Gly	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	237	51	0.21519	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	a	6.747	0.506566	0.12883	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.08896	3.41;3.04	4.38	1.92	0.25849	.	0.867112	0.09338	N	0.815936	T	0.08088	0.0202	L	0.43152	1.355	0.09310	N	1	B	0.23377	0.084	B	0.21360	0.034	T	0.34129	-0.9841	10	0.46703	T	0.11	-2.0712	6.0049	0.19541	0.6718:0.1671:0.0:0.1611	.	132	Q9HBT8	Z286A_HUMAN	G	132;122;132	ENSP00000397163:E132G;ENSP00000408168:E122G	ENSP00000435872:E132G	E	+	2	0	ZNF286A	15560158	0.001000	0.12720	0.090000	0.20809	0.511000	0.34104	0.115000	0.15540	0.676000	0.31285	0.528000	0.53228	GAA	.	.	none		0.393	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		G	15619433	A	G	15619433	3	3	28	1	0	0	0	0	1	0	0	0	17820	246	9	2	413	2	ZNF286A	17	15619433	Missense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10		15619433	65575777	78	22336										
C17orf102	400591	hgsc.bcm.edu	37	chr17	32905908	32905908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	acctgtaggaaagcactgtcCcctcctcttctccgtcttcc	6	17	3	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr17:32905908C>A	ENST00000357754.1	-	1	480	c.392G>T	c.(391-393)gGg>gTg	p.G131V	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	131										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAGCACTGTCCCCTCCTCTTC	0.587																																					p.G131V		Atlas-SNP	.											.	C17orf102	24	.	0			c.G392T						PASS	.						175	185	182					17																	32905908		1946	4145	6091	SO:0001583	missense	400591	exon1			ACTGTCCCCTCCT		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.392G>T	17.37:g.32905908C>A	ENSP00000350392:p.Gly131Val	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	93	22	0.236559	NM_207454	A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274858	0.40194	.	.	ENSG00000197322	ENST00000357754	T	0.46819	0.86	4.15	-0.222	0.13122	.	0.267652	0.20576	N	0.089625	T	0.33381	0.0861	N	0.19112	0.55	0.09310	N	1	P	0.49090	0.919	P	0.50082	0.63	T	0.17930	-1.0353	10	0.87932	D	0	.	2.7364	0.05241	0.2062:0.4407:0.0:0.3531	.	131	A2RUQ5	CQ102_HUMAN	V	131	ENSP00000350392:G131V	ENSP00000350392:G131V	G	-	2	0	C17orf102	29930021	0.000000	0.05858	0.000000	0.03702	0.653000	0.38743	-0.002000	0.12924	0.124000	0.18369	0.655000	0.94253	GGG	.	.	none		0.587	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		A	32905908	C	A	32905908	3	1	28	1	0	0	0	0	1	0	0	0	1849	623	22	4	119	4	C17orf102	17	32905908	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	17286475	32905908	48289302	79	22337										
FKBP10	60681	hgsc.bcm.edu	37	chr17	39974646	39974646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttctgcagctacagtaagggCggcacttatgacacctacgt	10	11	1	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr17:39974646C>T	ENST00000321562.4	+	4	698	c.594C>T	c.(592-594)ggC>ggT	p.G198G	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	198	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACAGTAAGGGCGGCACTTATG	0.607																																					p.G198G		Atlas-SNP	.											FKBP10,NS,carcinoma,+2,1	FKBP10	57	1	0			c.C594T						PASS	.						86	76	79					17																	39974646		2203	4300	6503	SO:0001819	synonymous_variant	60681	exon4			TAAGGGCGGCACT	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.594C>T	17.37:g.39974646C>T		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	122	22	0.180328	NM_021939	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	CCDS11409.1																																																																																			.	.	none		0.607	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		T	39974646	C	T	39974646	2	4	28	1	0	0	0	0	0	0	0	1	5902	755	27	1		1	FKBP10	17	39974646	Silent	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	7068738	39974646	41220564	80	22338										
BCL2	596	hgsc.bcm.edu	37	chr18	60985514	60985514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cctccaccaccgtggcaaagCgtccccgcgcggtgaagggc	13	17	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr18:60985514C>T	ENST00000398117.1	-	1	1847	c.386G>A	c.(385-387)cGc>cAc	p.R129H	BCL2_ENST00000444484.1_Missense_Mutation_p.R129H|BCL2_ENST00000333681.4_Missense_Mutation_p.R129H|BCL2_ENST00000589955.1_Missense_Mutation_p.R129H	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	129				R -> C (in Ref. 4; CAA29778). {ECO:0000305}.	actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.R129H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CGTGGCAAAGCGTCCCCGCGC	0.667			T	IGH@	"NHL, CLL"																																p.R129H		Atlas-SNP	.		Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	BCL2,NS,lymphoid_neoplasm,0,1	BCL2	272	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G386A						PASS	.						100	116	111					18																	60985514		2203	4300	6503	SO:0001583	missense	596	exon2			GCAAAGCGTCCCC	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.386G>A	18.37:g.60985514C>T	ENSP00000381185:p.Arg129His	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	73	16	0.219178	NM_000633	C9JHD5|P10416|Q13842|Q16197	Missense_Mutation	SNP	ENST00000398117.1	37	CCDS11981.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275064	0.59649	.	.	ENSG00000171791	ENST00000398117;ENST00000333681;ENST00000444484	T;T;T	0.11385	2.78;2.78;2.78	4.63	3.72	0.42706	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.062950	0.64402	D	0.000003	T	0.27967	0.0689	L	0.55481	1.735	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01966	-1.1238	10	0.72032	D	0.01	-20.1356	14.4183	0.67165	0.0:0.8513:0.1487:0.0	.	129;129	C9JHD5;P10415	.;BCL2_HUMAN	H	129	ENSP00000381185:R129H;ENSP00000329623:R129H;ENSP00000404214:R129H	ENSP00000329623:R129H	R	-	2	0	BCL2	59136494	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	5.728000	0.68531	1.092000	0.41356	0.655000	0.94253	CGC	.	.	none		0.667	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		T	60985514	C	T	60985514	3	4	28	1	0	0	0	0	1	0	0	0	1365	768	27	1	374	1	BCL2	18	60985514	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10		60985514	17091734	81	22339										
BCL2	596	hgsc.bcm.edu	37	chr18	60985870	60985870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttcatcactatctcccggttAtcgtaccctgttctcccagc	5	16	4	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr18:60985870A>G	ENST00000398117.1	-	1	1491	c.30T>C	c.(28-30)gaT>gaC	p.D10D	BCL2_ENST00000444484.1_Silent_p.D10D|BCL2_ENST00000333681.4_Silent_p.D10D|BCL2_ENST00000589955.1_Silent_p.D10D	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	10					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.D10D(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCTCCCGGTTATCGTACCCTG	0.657			T	IGH@	"NHL, CLL"																																p.D10D		Atlas-SNP	.		Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	BCL2_ENST00000398117,NS,lymphoid_neoplasm,0,2	BCL2	272	2	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	c.T30C						PASS	.						70	77	75					18																	60985870		1968	4072	6040	SO:0001819	synonymous_variant	596	exon2			CCGGTTATCGTAC	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.30T>C	18.37:g.60985870A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	80	10	0.125	NM_000633	C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	CCDS11981.1																																																																																			.	.	none		0.657	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		G	60985870	A	G	60985870	2	3	28	1	0	0	0	0	0	0	0	1	1365	446	16	2		2	BCL2	18	60985870	Silent	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10	356	60985870	17091378	82	22340										
ZNF236	7776	hgsc.bcm.edu	37	chr18	74611013	74611013	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gtcctcactgtgacaaaaaaTttcgaacctcaggccatagg	8	11	2	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr18:74611013T>A	ENST00000253159.8	+	11	1921	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	ZNF236_ENST00000320610.9_Missense_Mutation_p.F577I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	575					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAAAAAATTTCGAACCTC	0.383																																					p.F575I		Atlas-SNP	.											.	ZNF236	325	.	0			c.T1723A						PASS	.						117	107	110					18																	74611013		1849	4096	5945	SO:0001583	missense	7776	exon11			AAAAAATTTCGAA	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1723T>A	18.37:g.74611013T>A	ENSP00000253159:p.Phe575Ile	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	74	22	0.297297	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	T	32	5.149273	0.94645	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.47528	0.84;0.84	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.95611	3.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.85094	0.0953	10	0.87932	D	0	.	14.8972	0.70651	0.0:0.0:0.0:1.0	.	575	Q9UL36	ZN236_HUMAN	I	575	ENSP00000253159:F575I;ENSP00000444524:F575I	ENSP00000253159:F575I	F	+	1	0	ZNF236	72740001	1.000000	0.71417	0.849000	0.33467	0.989000	0.77384	7.751000	0.85126	1.928000	0.55862	0.482000	0.46254	TTT	.	.	none		0.383	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74611013	T	A	74611013	3	1	28	1	0	0	0	0	1	0	0	0	17786	1493	52	5	1765	5	ZNF236	18	74611013	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	13625143	74611013	3466235	83	22341										
RGL3	57139	hgsc.bcm.edu	37	chr19	11507932	11507932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgctcaccccggtccccagGaaggacttgaaagagctgat	11	13	1	3			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr19:11507932G>A	ENST00000380456.3	-	18	2065	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.P674S	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	668	Interaction with HRAS, MRAS and RIT1. {ECO:0000250}.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CGGTCCCCAGGAAGGACTTGA	0.637																																					p.P674S	GBM(174;751 2067 17998 27979 33959)	Atlas-SNP	.											.	RGL3	100	.	0			c.C2020T						PASS	.						79	81	80					19																	11507932		2203	4300	6503	SO:0001583	missense	57139	exon18			CCCCAGGAAGGAC	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.2002C>T	19.37:g.11507932G>A	ENSP00000369823:p.Pro668Ser	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	33	13	0.393939	NM_001161616	B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016219	0.07681	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.54479	0.57;0.57	4.7	2.56	0.30785	Ras-association (3);	0.301362	0.36374	N	0.002635	T	0.46151	0.1378	L	0.35723	1.085	0.42444	D	0.992721	B;B;B;D	0.57571	0.033;0.015;0.019;0.98	B;B;B;P	0.57244	0.084;0.023;0.012;0.816	T	0.54397	-0.8300	10	0.02654	T	1	.	6.4223	0.21750	0.2994:0.0:0.7005:0.0	.	668;674;674;465	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	S	465;674;668	ENSP00000377075:P674S;ENSP00000369823:P668S	ENSP00000344665:P465S	P	-	1	0	RGL3	11368932	0.980000	0.34600	0.991000	0.47740	0.984000	0.73092	1.078000	0.30754	0.694000	0.31654	0.555000	0.69702	CCT	.	.	none		0.637	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		A	11507932	G	A	11507932	3	1	28	1	0	0	0	0	1	0	0	0	13278	1174	41	2	138	2	RGL3	19	11507932	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10		11507932	47621051	84	22342										
KCNN1	3780	hgsc.bcm.edu	37	chr19	18108988	18108988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ccgtcatgtacgaccttgtaTcggagctgcacgctcagcac	10	14	2	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr19:18108988T>C	ENST00000222249.9	+	11	1724	c.1405T>C	c.(1405-1407)Tcg>Ccg	p.S469P	ARRDC2_ENST00000379656.3_5'Flank	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	469					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGACCTTGTATCGGAGCTGCA	0.642																																					p.S469P		Atlas-SNP	.											.	KCNN1	74	.	0			c.T1405C						PASS	.						14	17	16					19																	18108988		2163	4270	6433	SO:0001583	missense	3780	exon11			CTTGTATCGGAGC	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1405T>C	19.37:g.18108988T>C	ENSP00000476519:p.Ser469Pro	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	44	13	0.295455	NM_002248	Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		.	.	.	.	.	.	.	.	.	.	T	13.69	2.313548	0.40996	.	.	ENSG00000105642	ENST00000222249	.	.	.	4.19	1.79	0.24919	.	0.206931	0.42964	D	0.000639	T	0.45377	0.1339	L	0.55213	1.73	0.80722	D	1	P	0.44877	0.845	B	0.44044	0.439	T	0.32375	-0.9909	9	0.49607	T	0.09	-12.4163	5.103	0.14770	0.1427:0.0:0.2672:0.5901	.	469	Q92952	KCNN1_HUMAN	P	486	.	ENSP00000222249:S486P	S	+	1	0	KCNN1	17969988	0.961000	0.32948	0.965000	0.40720	0.134000	0.20937	0.750000	0.26334	0.486000	0.27676	0.397000	0.26171	TCG	.	.	none		0.642	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		C	18108988	T	C	18108988	3	2	28	1	0	0	0	0	1	0	0	0	8078	1435	50	2	1439	2	KCNN1	19	18108988	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	6601056	18108988	41019995	85	22343										
B3GNT8	593	hgsc.bcm.edu	37	chr19	41932430	41932430	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ccgtttcagtgctgtccccaCtgggcagggaccccagccgc	12	17	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr19:41932430C>G	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Missense_Mutation_p.S85T|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCTGTCCCCACTGGGCAGGGA	0.692																																					p.S85T		Atlas-SNP	.											.	B3GNT8	20	.	0			c.G254C						PASS	.						11	11	11					19																	41932430		2174	4270	6444	SO:0001628	intergenic_variant	374907	exon3			TCCCCACTGGGCA	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932430C>G		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	89	18	0.202247	NM_198540	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288472	0.23478	.	.	ENSG00000177191	ENST00000321702	T	0.34859	1.34	4.21	1.79	0.24919	.	0.546871	0.16746	N	0.201230	T	0.21841	0.0526	N	0.25144	0.715	0.34090	D	0.660626	B	0.06786	0.001	B	0.04013	0.001	T	0.24333	-1.0163	10	0.14656	T	0.56	.	11.6491	0.51277	0.0:0.6581:0.3419:0.0	.	85	Q7Z7M8	B3GN8_HUMAN	T	85	ENSP00000312700:S85T	ENSP00000312700:S85T	S	-	2	0	B3GNT8	46624270	0.000000	0.05858	0.712000	0.30502	0.902000	0.53008	0.004000	0.13106	1.075000	0.40932	0.462000	0.41574	AGT	.	.	none		0.692	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		G	41932430	C	G	41932430	1	3	28	0	1	0	0	0	0	0	0	0	1263	565	20	4		4	B3GNT8	19	41932430	IGR	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	23823442	41932430	17196553	86	22344										
PSG6	5675	hgsc.bcm.edu	37	chr19	43420486	43420486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	taatgtaatggtagaggtccGtcatttgccctttgtaccag	10	8	1	1	rs140974685|rs386809478	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr19:43420486G>A	ENST00000292125.2	-	2	262	c.218C>T	c.(217-219)aCg>aTg	p.T73M	PSG6_ENST00000187910.2_Missense_Mutation_p.T73M|PSG6_ENST00000402603.4_Missense_Mutation_p.T73M|PSG6_ENST00000601833.1_Missense_Mutation_p.T2M	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	73	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTAGAGGTCCGTCATTTGCCC	0.453																																					p.T73M		Atlas-SNP	.											.	PSG6	89	.	0			c.C218T						PASS	.						243	238	239					19																	43420486		2202	4299	6501	SO:0001583	missense	5675	exon2			AGGTCCGTCATTT		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.218C>T	19.37:g.43420486G>A	ENSP00000292125:p.Thr73Met	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	124	20	0.16129	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.086760	0.00367	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.65916	-0.18;-0.18;-0.18	1.47	-2.95	0.05564	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32882	0.0844	N	0.04724	-0.175	0.09310	N	1	B;B;B	0.22746	0.01;0.009;0.074	B;B;B	0.25987	0.028;0.01;0.065	T	0.15122	-1.0448	9	0.33141	T	0.24	.	1.1353	0.01754	0.2697:0.2892:0.2973:0.1438	.	73;73;73	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	M	73	ENSP00000187910:T73M;ENSP00000385736:T73M;ENSP00000292125:T73M	ENSP00000187910:T73M	T	-	2	0	PSG6	48112326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.550000	0.02180	-5.346000	0.00016	-4.576000	0.00004	ACG	G|0.969;C|0.031	.	alt		0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		A	43420486	G	A	43420486	3	1	28	1	0	0	0	0	1	0	0	0	12659	1145	40	1	1148	1	PSG6	19	43420486	Missense_Mutation	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	1488056	43420486	15708497	87	22345										
PLCB1	23236	hgsc.bcm.edu	37	chr20	8352099	8352100	+	Splice_Site	INS	-	-	AGGATCCC													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cacgccaaagctcccaaggtINSaggaggttgagtgttgtgca							TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr20:8352099_8352100insAGGATCCC	ENST00000338037.6	+	3	273		c.e3+2		PLCB1_ENST00000378637.2_Splice_Site|PLCB1_ENST00000378641.3_Splice_Site	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCTCCCAAGGTAGGAGGTTGAG	0.446																																					.		Pindel,Atlas-Indel	.											.	PLCB1	394	.	0			c.246+2->AGGATCCC						PASS	.																																			SO:0001630	splice_region_variant	23236	exon3			.	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.246+2->AGGATCCC	20.37:g.8352099_8352100insAGGATCCC		Somatic	71	.	.		WXS	Illumina HiSeq	Phase_I	62	19	0.306	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Splice_Site	INS	ENST00000338037.6	37	CCDS13102.1																																																																																			.	.	none		0.446	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Intron	AGGATCCC	8352100	-	AGGATCCC	8352099	8	5	28	1	0	1	1	0	0	0	1	0	12027	1652	57	0	258	0	PLCB1	20	8352099	Splice_Site	INS	-	TCGA-GS-A9TQ-01A-11D-A382-10		8352099	54673421	88	22346										
C20orf117	140710	hgsc.bcm.edu	37	chr20	35433301	35433301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ccagtgtcttgatgtactcaTtgggctgcagacaggaggca	13	9	2	2			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr20:35433301T>C	ENST00000357779.3	-	10	2536	c.2210A>G	c.(2209-2211)aAt>aGt	p.N737S	SOGA1_ENST00000456801.2_Missense_Mutation_p.N578S|SOGA1_ENST00000279034.6_Missense_Mutation_p.N737S|SOGA1_ENST00000237536.4_Missense_Mutation_p.N975S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	737					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GATGTACTCATTGGGCTGCAG	0.577																																					p.N975S		Atlas-SNP	.											SOGA1_ENST00000237536,NS,carcinoma,+1,4	SOGA1	136	4	0			c.A2924G						PASS	.						72	75	74					20																	35433301		2094	4240	6334	SO:0001583	missense	140710	exon10			TACTCATTGGGCT	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2210A>G	20.37:g.35433301T>C	ENSP00000350424:p.Asn737Ser	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	10.46	1.355804	0.24598	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16897	2.31;2.31;2.32;2.32	4.79	3.69	0.42338	.	0.175827	0.49916	D	0.000122	T	0.09468	0.0233	N	0.22421	0.69	0.28792	N	0.899245	B	0.30236	0.274	B	0.31751	0.135	T	0.28396	-1.0045	10	0.08599	T	0.76	-18.6184	7.0441	0.25037	0.0:0.1806:0.0:0.8194	.	737	O94964-4	.	S	975;737;578;737	ENSP00000237536:N975S;ENSP00000279034:N737S;ENSP00000413886:N578S;ENSP00000350424:N737S	ENSP00000237536:N975S	N	-	2	0	KIAA0889	34866715	0.998000	0.40836	0.901000	0.35422	0.935000	0.57460	3.290000	0.51755	0.858000	0.35431	0.455000	0.32223	AAT	.	.	none		0.577	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		C	35433301	T	C	35433301	3	2	28	1	0	0	0	0	1	0	0	0	2083	1493	52	2	2147	2	C20orf117	20	35433301	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	27081202	35433301	27592219	89	22347										
ATP9A	10079	hgsc.bcm.edu	37	chr20	50310555	50310555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aaagctactcacggcggccgTggggagcctctgcgtgcagg	16	12	2	0	rs566503519		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr20:50310555T>C	ENST00000338821.5	-	7	898	c.634A>G	c.(634-636)Acg>Gcg	p.T212A	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	212					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGCGGCCGTGGGGAGCCTC	0.617																																					p.T212A		Atlas-SNP	.											ATP9A,rectum,carcinoma,+2,2	ATP9A	135	2	0			c.A634G						PASS	.						39	43	42					20																	50310555		2202	4299	6501	SO:0001583	missense	10079	exon7			CGGCCGTGGGGAG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.634A>G	20.37:g.50310555T>C	ENSP00000342481:p.Thr212Ala	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	128	22	0.171875	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726183	0.30593	.	.	ENSG00000054793	ENST00000338821	T	0.78364	-1.17	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	N	0.11818	0.18	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.56517	-0.7966	10	0.15066	T	0.55	-28.3414	14.7939	0.69863	0.0:0.0:0.0:1.0	.	212	O75110	ATP9A_HUMAN	A	212	ENSP00000342481:T212A	ENSP00000342481:T212A	T	-	1	0	ATP9A	49743962	1.000000	0.71417	0.993000	0.49108	0.791000	0.44710	5.986000	0.70563	1.889000	0.54706	0.533000	0.62120	ACG	.	.	none		0.617	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		C	50310555	T	C	50310555	3	2	28	1	0	0	0	0	1	0	0	0	1198	1696	59	2	2597	2	ATP9A	20	50310555	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10	14877254	50310555	12714965	90	22348										
SPO11	23626	hgsc.bcm.edu	37	chr20	55910492	55910492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	aaggctgttgctgtgccatcGaatattcaaggaattcggag	12	7	1	0			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr20:55910492G>A	ENST00000371263.3	+	7	724	c.615G>A	c.(613-615)tcG>tcA	p.S205S	SPO11_ENST00000345868.4_Silent_p.S167S|SPO11_ENST00000371260.4_Silent_p.S167S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	205					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CTGTGCCATCGAATATTCAAG	0.303								Editing and processing nucleases																													p.S205S		Atlas-SNP	.											.	SPO11	43	.	0			c.G615A						PASS	.						61	58	59					20																	55910492		2202	4300	6502	SO:0001819	synonymous_variant	23626	exon7			GCCATCGAATATT	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.615G>A	20.37:g.55910492G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	90	16	0.177778	NM_012444	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	CCDS13456.1																																																																																			.	.	none		0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		A	55910492	G	A	55910492	2	1	28	1	0	0	0	0	0	0	0	1	15076	1045	37	1		1	SPO11	20	55910492	Silent	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	5599937	55910492	7115028	91	22349										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62194351	62194351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gaatggttcccacacgcaggCgtactcatccacgtcgcggt	11	14	1	0	rs148162381		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr20:62194351C>G	ENST00000467148.1	-	8	5893	c.5824G>C	c.(5824-5826)Gcc>Ccc	p.A1942P	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1373P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1942					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CACACGCAGGCGTACTCATCC	0.667																																					p.A1942P		Atlas-SNP	.											.	.	.	.	0			c.G5824C						PASS	.						13	11	12					20																	62194351		2161	4264	6425	SO:0001583	missense	85441	exon9			CGCAGGCGTACTC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5824G>C	20.37:g.62194351C>G	ENSP00000417401:p.Ala1942Pro	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	79	21	0.265823	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	4.849	0.157913	0.09236	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80033	-1.33;-1.23	4.75	-9.5	0.00584	.	1.864240	0.02078	N	0.052103	T	0.66896	0.2836	N	0.22421	0.69	0.09310	N	1	P;P	0.46020	0.797;0.871	B;P	0.45406	0.286;0.479	T	0.70676	-0.4806	10	0.33141	T	0.24	-1.2872	4.4847	0.11783	0.1009:0.3812:0.1031:0.4149	.	1942;1373	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	P	1373;1942	ENSP00000393257:A1373P;ENSP00000417401:A1942P	ENSP00000393257:A1373P	A	-	1	0	RP4-697K14.7	61664795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.460000	0.02368	-4.162000	0.00068	-1.185000	0.01705	GCC	C|1.000;T|0.000	.	alt		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62194351	C	G	62194351	3	3	28	1	0	0	0	0	1	0	0	0	12485	768	27	4	2173	4	PRIC285	20	62194351	Missense_Mutation	SNP	C	TCGA-GS-A9TQ-01A-11D-A382-10	6283859	62194351	831169	92	22350										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230400	23230400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	cccagaccctggagcctcagTtggaagcagccgatccagcc	11	16	1	1	rs189360394		TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr22:23230400T>C	ENST00000526893.1	+	1	441	c.167T>C	c.(166-168)gTt>gCt	p.V56A	IGLL5_ENST00000531372.1_Missense_Mutation_p.V56A|IGLL5_ENST00000532223.2_Missense_Mutation_p.V56A|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	56						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGAGCCTCAGTTGGAAGCAGC	0.667													T|||	1	0.000199681	0.0	0.0014	5008	,	,		10673	0.0		0.0	False		,,,				2504	0.0				p.V56A		Atlas-SNP	.											.	IGLL5	26	.	0			c.T167C						PASS	.																																			SO:0001583	missense	100423062	exon1			CCTCAGTTGGAAG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.167T>C	22.37:g.23230400T>C	ENSP00000431254:p.Val56Ala	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	112	21	0.1875	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	0.035	-1.312432	0.01331	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00571	6.5;6.5	3.92	-3.93	0.04143	.	.	.	.	.	T	0.00356	0.0011	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45071	-0.9286	9	0.54805	T	0.06	.	0.8497	0.01169	0.1514:0.2511:0.2977:0.2998	.	56	B9A064	IGLL5_HUMAN	A	56	ENSP00000436353:V56A;ENSP00000431254:V56A	ENSP00000431254:V56A	V	+	2	0	IGLL5	21560400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-0.629000	0.05575	-1.272000	0.01410	GTT	T|1.000;C|0.000	0.000	strong		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230400	T	C	23230400	3	2	28	1	0	0	0	0	1	0	0	0	7594	1725	60	2	169	2	IGLL5	22	23230400	Missense_Mutation	SNP	T	TCGA-GS-A9TQ-01A-11D-A382-10		23230400	28074166	93	22351										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230440	23230440	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ctgcggagcctgtggggcagGtaaggggcaagagattccag	18	8	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr22:23230440G>C	ENST00000526893.1	+	1	480		c.e1+1		IGLL5_ENST00000531372.1_Splice_Site|IGLL5_ENST00000532223.2_Splice_Site|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGTGGGGCAGGTAAGGGGCAA	0.627																																					.		Atlas-SNP	.											.	IGLL5	26	.	0			c.100+1G>C						PASS	.																																			SO:0001630	splice_region_variant	100423062	exon1			GGGCAGGTAAGGG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.206+1G>C	22.37:g.23230440G>C		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	69	12	0.173913	NM_001256296		Splice_Site	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.687	1.150929	0.21371	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.74	0.51788	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGLL5	21560440	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	1.700000	0.37815	2.481000	0.83766	0.643000	0.83706	.	.	.	none		0.627	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	Intron	C	23230440	G	C	23230440	5	2	28	1	0	0	0	0	0	0	1	0	7594	1275	44	4	209	4	IGLL5	22	23230440	Splice_Site	SNP	G	TCGA-GS-A9TQ-01A-11D-A382-10	40	23230440	28074126	94	22352										
ENTHD1	150350	hgsc.bcm.edu	37	chr22	40161596	40161599	+	Frame_Shift_Del	DEL	GAGA	GAGA	-													0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	gcccagaaggactattttctGagagagtaggcacagcatct					rs140918120	byFrequency	TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	GAGA	GAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chr22:40161596_40161599delGAGA	ENST00000325157.6	-	6	1098_1101	c.848_851delTCTC	c.(847-852)ctctcafs	p.LS283fs		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	283										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACTATTTTCTGAGAGAGTAGGCAC	0.319																																					p.283_284del		Atlas-Indel	.											.	ENTHD1	83	.	0			c.849_852del						PASS	.																																			SO:0001589	frameshift_variant	150350	exon6			.	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.848_851delTCTC	22.37:g.40161596_40161599delGAGA	ENSP00000317431:p.Leu283fs	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	92	12	0.130435	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Frame_Shift_Del	DEL	ENST00000325157.6	37	CCDS13998.1																																																																																			.	.	none		0.319	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		-	40161599	GAGA	-	40161596	7	5	28	1	0	1	0	1	0	0	0	0	5137	1294	45	0	980	0	ENTHD1	22	40161596	Frame_Shift_Del	DEL	GAGA	TCGA-GS-A9TQ-01A-11D-A382-10	16931156	40161596	11142970	95	22353										
BTK	695	hgsc.bcm.edu	37	chrX	100613634	100613634	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.721966205837174	1.08294930875576	0.649769585253456	0.523809523809524	0.767006802721089	0	ttagcaaacacagacactgtAtatttgccagctttgctgga	8	9	0	1			TCGA-GS-A9TQ-01A-11D-A382-10	TCGA-GS-A9TQ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	fed06f8b-2c24-4196-a3e5-4a6acea52761	e7763c46-3083-49b4-8739-24cb4ed05f3c	g.chrX:100613634A>C	ENST00000308731.7	-	11	1108	c.945T>G	c.(943-945)taT>taG	p.Y315*	BTK_ENST00000372880.1_Nonsense_Mutation_p.Y315*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	315	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGACACTGTATATTTGCCAG	0.478									Agammaglobulinemia, X-linked																												p.Y315X		Atlas-SNP	.											.	BTK	87	.	0			c.T945G	GRCh37	CM980271	BTK	M		PASS	.						247	217	227					X																	100613634		2203	4300	6503	SO:0001587	stop_gained	695	exon11	Familial Cancer Database	Bruton Type Agammaglobulinemia	CACTGTATATTTG	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.945T>G	X.37:g.100613634A>C	ENSP00000308176:p.Tyr315*	Somatic	304	0	0		WXS	Illumina HiSeq	Phase_I	134	34	0.253731	NM_000061	B2RAW1|Q32ML5	Nonsense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	A	40	8.164449	0.98686	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	.	.	.	5.88	-0.277	0.12898	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0824	0.64932	0.2624:0.0:0.7376:0.0	.	.	.	.	X	315	.	ENSP00000308176:Y315X	Y	-	3	2	BTK	100500290	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	1.439000	0.35013	-0.260000	0.09418	0.486000	0.48141	TAT	.	.	none		0.478	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		C	100613634	A	C	100613634	4	2	28	1	0	0	0	0	0	1	0	0	1557	456	16	5	1070	5	BTK	23	100613634	Nonsense_Mutation	SNP	A	TCGA-GS-A9TQ-01A-11D-A382-10		100613634	54656926	96	22354										
KLHL21	9903	hgsc.bcm.edu	37	chr1	6662376	6662376	+	Silent	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctccagctgctcggcgcccaGctcgcccacgtggcgcagaa							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:6662376G>A	ENST00000377658.4	-	1	553	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000377663.3_Silent_p.L168L|KLHL21_ENST00000467612.1_Intron	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	168	BACK.				chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TCGGCGCCCAGCTCGCCCACG	0.706																																					p.L168L		Atlas-SNP	.											.	KLHL21	27	.	0			c.C502T						PASS	.						4	4	4					1																	6662376		1941	3902	5843	SO:0001819	synonymous_variant	9903	exon1			CGCCCAGCTCGCC	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.502C>T	1.37:g.6662376G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	14	8	0.571429	NM_014851	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Silent	SNP	ENST00000377658.4	37	CCDS30575.1																																																																																			.	.	none		0.706	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		A	6662376	G	A	6662376	2	1	29	1	0	0	0	0	0	0	0	1	8376	962	34	2		2	KLHL21	1	6662376	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		6662376	242588245	1	22355	448	2								
KLHL21	9903	hgsc.bcm.edu	37	chr1	6662386	6662386	+	Missense_Mutation	SNP	G	G	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcggcgcccagctcgcccacGtggcgcagaatgaaccgctg					rs531955371		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:6662386G>T	ENST00000377658.4	-	1	543	c.492C>A	c.(490-492)caC>caA	p.H164Q	KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000377663.3_Missense_Mutation_p.H164Q|KLHL21_ENST00000467612.1_Intron	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	164	BACK.				chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCTCGCCCACGTGGCGCAGAA	0.706																																					p.H164Q		Atlas-SNP	.											.	KLHL21	27	.	0			c.C492A						PASS	.						4	5	5					1																	6662386		2027	4033	6060	SO:0001583	missense	9903	exon1			GCCCACGTGGCGC	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.492C>A	1.37:g.6662386G>T	ENSP00000366886:p.His164Gln	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	16	8	0.5	NM_014851	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617529	0.96649	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.70045	-0.45;-0.45	4.05	4.05	0.47172	BTB/Kelch-associated (2);	0.050845	0.85682	D	0.000000	T	0.74030	0.3663	M	0.71920	2.185	0.80722	D	1	D;D	0.54397	0.966;0.958	P;P	0.51453	0.67;0.619	T	0.79685	-0.1700	10	0.72032	D	0.01	.	16.0713	0.80936	0.0:0.0:1.0:0.0	.	164;164	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	Q	164	ENSP00000366886:H164Q;ENSP00000366891:H164Q	ENSP00000366886:H164Q	H	-	3	2	KLHL21	6584973	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.765000	0.62271	2.189000	0.69895	0.462000	0.41574	CAC	.	.	none		0.706	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		T	6662386	G	T	6662386	3	4	29	1	0	0	0	0	1	0	0	0	8376	1136	40	4	1317	4	KLHL21	1	6662386	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	10	6662386	242588235	2	22356	448	2								
KIF17	57576	hgsc.bcm.edu	37	chr1	21031118	21031118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtctcatcgtagttgttgtcCgcaggcgacaggcaggccac	13	12	1	0	rs373442401		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:21031118C>T	ENST00000247986.2	-	5	1255	c.945G>A	c.(943-945)gcG>gcA	p.A315A	KIF17_ENST00000375044.1_Silent_p.A215A|KIF17_ENST00000400463.3_Silent_p.A315A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	315	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTGTTGTCCGCAGGCGACA	0.617																																					p.A315A		Atlas-SNP	.											KIF17,NS,carcinoma,-2,1	KIF17	130	1	0			c.G945A						PASS	.	C	,	0,4406		0,0,2203	156	120	132		945,945	-10.2	0	1		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	315/1029,315/1030	21031118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57576	exon5			GTTGTCCGCAGGC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.945G>A	1.37:g.21031118C>T		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	133	57	0.428571	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																			.	.	none		0.617	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21031118	C	T	21031118	2	4	29	1	0	0	0	0	0	0	0	1	8279	639	23	1		1	KIF17	1	21031118	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	14368732	21031118	228219503	3	22357										
PTPRF	5792	hgsc.bcm.edu	37	chr1	44084821	44084821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccatcctggccttcctacgaCgggtcaaggcctgcaacccc	9	18	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:44084821C>T	ENST00000359947.4	+	27	4934	c.4594C>T	c.(4594-4596)Cgg>Tgg	p.R1532W	PTPRF_ENST00000422171.2_Missense_Mutation_p.R891W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1532W|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1523W|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1523W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1532	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTCCTACGACGGGTCAAGGC	0.632																																					p.R1532W		Atlas-SNP	.											.	PTPRF	172	.	0			c.C4594T						PASS	.						50	45	47					1																	44084821		2203	4300	6503	SO:0001583	missense	5792	exon27			CTACGACGGGTCA	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4594C>T	1.37:g.44084821C>T	ENSP00000353030:p.Arg1532Trp	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	41	21	0.512195	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842593|2.842593	0.51057|0.51057	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.	0.84298|.	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83|.	5.42|5.42	3.24|3.24	0.37175|0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.31323|.	N|.	0.007859|.	D|D	0.85008|0.85008	0.5599|0.5599	H|H	0.94183|0.94183	3.505|3.505	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;0.998;0.997;1.0|.	D|D	0.89646|0.89646	0.3866|0.3866	10|5	0.87932|.	D|.	0|.	.|.	14.1802|14.1802	0.65568|0.65568	0.393:0.607:0.0:0.0|0.393:0.607:0.0:0.0	.|.	1177;891;1109;1523;1532|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	W|M	1532;1523;1532;1523;891;604|915;956	ENSP00000353030:R1532W;ENSP00000398822:R1523W;ENSP00000361491:R1532W;ENSP00000361490:R1523W;ENSP00000387885:R891W;ENSP00000361484:R604W|.	ENSP00000353030:R1532W|.	R|T	+|+	1|2	2|0	PTPRF|PTPRF	43857408|43857408	0.005000|0.005000	0.15991|0.15991	1.000000|1.000000	0.80357|0.80357	0.709000|0.709000	0.40893|0.40893	0.051000|0.051000	0.14141|0.14141	1.389000|1.389000	0.46526|0.46526	0.561000|0.561000	0.74099|0.74099	CGG|ACG	.	.	none		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44084821	C	T	44084821	3	4	29	1	0	0	0	0	1	0	0	0	12801	527	19	1	4692	1	PTPRF	1	44084821	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	23053703	44084821	205165800	4	22358										
KANK4	163782	hgsc.bcm.edu	37	chr1	62739545	62739545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtcagtgttcaccatcacgtCcgtctggccctgagtgtctt	10	13	5	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:62739545C>G	ENST00000371153.4	-	3	1609	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	411						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCATCACGTCCGTCTGGCCC	0.517																																					p.D411H		Atlas-SNP	.											KANK4,right_upper_lobe,carcinoma,+2,1	KANK4	135	1	0			c.G1231C						PASS	.						197	166	176					1																	62739545		2203	4300	6503	SO:0001583	missense	163782	exon3			TCACGTCCGTCTG	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1231G>C	1.37:g.62739545C>G	ENSP00000360195:p.Asp411His	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	131	56	0.427481	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567050	0.65651	.	.	ENSG00000132854	ENST00000371153	T	0.62498	0.02	5.67	5.67	0.87782	.	0.000000	0.41097	D	0.000950	T	0.77598	0.4154	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.78848	-0.2042	10	0.72032	D	0.01	-16.8446	19.3774	0.94517	0.0:1.0:0.0:0.0	.	411	Q5T7N3	KANK4_HUMAN	H	411	ENSP00000360195:D411H	ENSP00000360195:D411H	D	-	1	0	KANK4	62512133	0.973000	0.33851	0.178000	0.23040	0.004000	0.04260	2.844000	0.48246	2.677000	0.91161	0.561000	0.74099	GAC	.	.	none		0.517	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		G	62739545	C	G	62739545	3	3	29	1	0	0	0	0	1	0	0	0	7979	855	30	4	1788	4	KANK4	1	62739545	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	18654724	62739545	186511076	5	22359										
COL11A1	1301	hgsc.bcm.edu	37	chr1	103463891	103463891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcccatcagcaccaggaagtCcagcaagtcctggttttcct	9	14	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:103463891C>A	ENST00000370096.3	-	25	2483	c.2171G>T	c.(2170-2172)gGa>gTa	p.G724V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G736V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G685V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G608V|COL11A1_ENST00000461720.1_5'Flank	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	724	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G736V(1)|p.G724V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGAAGTCCAGCAAGTCC	0.303																																					p.G736V		Atlas-SNP	.											.	COL11A1	972	.	2	Substitution - Missense(2)	lung(2)	c.G2207T						PASS	.						38	40	39					1																	103463891		2202	4299	6501	SO:0001583	missense	1301	exon25			GGAAGTCCAGCAA	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2171G>T	1.37:g.103463891C>A	ENSP00000359114:p.Gly724Val	Somatic	567	1	0.00176367		WXS	Illumina HiSeq	Phase_I	401	166	0.413965	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521145	0.85600	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.97131	3.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.998	D	0.98152	1.0442	10	0.87932	D	0	.	18.9689	0.92707	0.0:1.0:0.0:0.0	.	608;685;736;724	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	724;736;685;608	ENSP00000359114:G724V;ENSP00000351163:G736V;ENSP00000302551:G685V;ENSP00000426533:G608V	ENSP00000302551:G685V	G	-	2	0	COL11A1	103236479	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	5.505000	0.66981	2.494000	0.84150	0.467000	0.42956	GGA	.	.	none		0.303	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103463891	C	A	103463891	3	1	29	1	0	0	0	0	1	0	0	0	3667	855	30	4	3421	4	COL11A1	1	103463891	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	40724346	103463891	145786730	6	22360										
KCNA3	3738	hgsc.bcm.edu	37	chr1	111216563	111216563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgaagaagggatcggagaagCtggaggctcctgcgcgggac	18	9	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:111216563C>T	ENST00000369769.2	-	1	1092	c.869G>A	c.(868-870)aGc>aAc	p.S290N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	290					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	ATCGGAGAAGCTGGAGGCTCC	0.617																																					p.S290N		Atlas-SNP	.											.	KCNA3	91	.	0			c.G869A						PASS	.						63	66	65					1																	111216563		2203	4300	6503	SO:0001583	missense	3738	exon1			GAGAAGCTGGAGG	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.869G>A	1.37:g.111216563C>T	ENSP00000358784:p.Ser290Asn	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	56	25	0.446429	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	7.305	0.613728	0.14066	.	.	ENSG00000177272	ENST00000369769	D	0.97404	-4.37	5.04	4.11	0.48088	.	0.311416	0.29861	U	0.011005	D	0.88983	0.6586	L	0.34521	1.04	0.39488	D	0.968005	B	0.14012	0.009	B	0.17433	0.018	D	0.84153	0.0424	10	0.17369	T	0.5	.	10.7352	0.46120	0.1908:0.8092:0.0:0.0	.	290	P22001	KCNA3_HUMAN	N	290	ENSP00000358784:S290N	ENSP00000358784:S290N	S	-	2	0	KCNA3	111018086	.	.	1.000000	0.80357	0.982000	0.71751	.	.	1.090000	0.41315	0.655000	0.94253	AGC	.	.	none		0.617	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216563	C	T	111216563	3	4	29	1	0	0	0	0	1	0	0	0	8004	797	28	2	862	2	KCNA3	1	111216563	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7752672	111216563	138034058	7	22361										
SEMA4A	64218	hgsc.bcm.edu	37	chr1	156146494	156146494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgggagcatgtgaaggtcccGttgaccagggtcagtggtgg	18	8	1	2	rs185601992	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:156146494G>A	ENST00000368285.3	+	15	2259	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	SEMA4A_ENST00000368282.1_Silent_p.P664P|SEMA4A_ENST00000368284.1_Silent_p.P532P|SEMA4A_ENST00000355014.2_Silent_p.P664P|SEMA4A_ENST00000368286.2_Silent_p.P532P	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	664					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGAAGGTCCCGTTGACCAGGG	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		19484	0.003		0.0	False		,,,				2504	0.0				p.P664P		Atlas-SNP	.											.	SEMA4A	75	.	0			c.G1992A						PASS	.	G	,,,	0,4406		0,0,2203	66	62	63		1992,1992,1596,1992	-4.4	0.9	1		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	664/762,664/762,532/630,664/762	156146494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64218	exon15			GGTCCCGTTGACC	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1992G>A	1.37:g.156146494G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	119	65	0.546219	NM_001193300	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1																																																																																			G|0.999;A|0.001	0.001	strong		0.607	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		A	156146494	G	A	156146494	2	1	29	1	0	0	0	0	0	0	0	1	14031	1132	40	1		1	SEMA4A	1	156146494	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	44929931	156146494	93104127	8	22362										
NUF2	83540	hgsc.bcm.edu	37	chr1	163318812	163318812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	taatcaagaaatccaaaaaaTtaaacttggaattcaacaac	3	7	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:163318812T>C	ENST00000271452.3	+	13	1481	c.1202T>C	c.(1201-1203)aTt>aCt	p.I401T	NUF2_ENST00000367900.3_Missense_Mutation_p.I401T|NUF2_ENST00000524800.1_Missense_Mutation_p.I354T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	401	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATCCAAAAAATTAAACTTGGA	0.338																																					p.I401T		Atlas-SNP	.											.	NUF2	138	.	0			c.T1202C						PASS	.						60	64	63					1																	163318812		2203	4299	6502	SO:0001583	missense	83540	exon13			AAAAAATTAAACT	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1202T>C	1.37:g.163318812T>C	ENSP00000271452:p.Ile401Thr	Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	276	124	0.449275	NM_145697	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	T	1.373	-0.585581	0.03827	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.34072	1.45;1.38;1.38	5.5	3.13	0.36017	.	0.485095	0.24628	N	0.036908	T	0.09291	0.0229	L	0.34521	1.04	0.29837	N	0.829583	B;B	0.23058	0.079;0.079	B;B	0.21546	0.035;0.035	T	0.21793	-1.0235	9	0.17832	T	0.49	-1.6075	7.0329	0.24977	0.1477:0.0:0.1549:0.6974	.	354;401	E9PQC4;Q9BZD4	.;NUF2_HUMAN	T	354;401;401	ENSP00000436888:I354T;ENSP00000356875:I401T;ENSP00000271452:I401T	ENSP00000271452:I401T	I	+	2	0	NUF2	161585436	0.007000	0.16637	0.000000	0.03702	0.330000	0.28571	0.855000	0.27805	0.484000	0.27630	-0.301000	0.09380	ATT	.	.	none		0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		C	163318812	T	C	163318812	3	2	29	1	0	0	0	0	1	0	0	0	10747	1493	52	2	1248	2	NUF2	1	163318812	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	7172318	163318812	85931809	9	22363										
FAM5B	57795	hgsc.bcm.edu	37	chr1	177250054	177250054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgtctcaccaagaacagcaCcctggagcctgtcatggcca	9	15	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:177250054C>A	ENST00000361539.4	+	8	2054	c.1742C>A	c.(1741-1743)aCc>aAc	p.T581N	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	581					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)	extracellular region (GO:0005576)											AAGAACAGCACCCTGGAGCCT	0.562																																					p.T581N		Atlas-SNP	.											.	FAM5B	191	.	0			c.C1742A						PASS	.						59	54	56					1																	177250054		2203	4300	6503	SO:0001583	missense	57795	exon8			ACAGCACCCTGGA		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1742C>A	1.37:g.177250054C>A	ENSP00000354481:p.Thr581Asn	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	89	45	0.505618	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528306	0.64860	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.18174	2.23	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.46119	-0.9214	10	0.62326	D	0.03	-26.8652	18.4386	0.90656	0.0:1.0:0.0:0.0	.	476;581	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	N	334;581	ENSP00000354481:T581N	ENSP00000354481:T581N	T	+	2	0	FAM5B	175516677	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.707000	0.84623	2.443000	0.82685	0.313000	0.20887	ACC	.	.	none		0.562	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		A	177250054	C	A	177250054	3	1	29	1	0	0	0	0	1	0	0	0	5593	507	18	4	1768	4	FAM5B	1	177250054	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	13931242	177250054	72000567	10	22364										
PKP1	5317	hgsc.bcm.edu	37	chr1	201252908	201252908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aactccacgttggctttgccGtcggaccaaaagatgaaaac	9	11	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:201252908G>A	ENST00000352845.3	+	1	78	c.78G>A	c.(76-78)ccG>ccA	p.P26P	PKP1_ENST00000367324.3_Silent_p.P26P|PKP1_ENST00000263946.3_Silent_p.P26P			Q13835	PKP1_HUMAN	plakophilin 1	26					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TGGCTTTGCCGTCGGACCAAA	0.612																																					p.P26P		Atlas-SNP	.											.	PKP1	127	.	0			c.G78A						PASS	.						109	86	94					1																	201252908		2203	4300	6503	SO:0001819	synonymous_variant	5317	exon1			TTTGCCGTCGGAC	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.78G>A	1.37:g.201252908G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	85	35	0.411765	NM_001005337	O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																			.	.	none		0.612	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		A	201252908	G	A	201252908	2	1	29	1	0	0	0	0	0	0	0	1	11984	1132	40	1		1	PKP1	1	201252908	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	24002854	201252908	47997713	11	22365										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274876	203274876	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgctccaggaggcactcacaGgtgagcgcatgccgaggggc	16	13	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:203274876G>T	ENST00000290551.4	+	1	213	c.142G>T	c.(142-144)Gag>Tag	p.E48*	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	48					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GGCACTCACAGGTGAGCGCAT	0.706																																					p.E48X		Atlas-SNP	.											.	BTG2	16	.	0			c.G142T						PASS	.						10	12	12					1																	203274876		1996	3876	5872	SO:0001630	splice_region_variant	7832	exon1			CTCACAGGTGAGC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.142+1G>T	1.37:g.203274876G>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Nonsense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	g	37	6.127598	0.97305	.	.	ENSG00000159388	ENST00000290551	.	.	.	4.23	4.23	0.50019	.	0.072934	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.437	15.3407	0.74293	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000290551:E48X	E	+	1	0	BTG2	201541499	1.000000	0.71417	0.996000	0.52242	0.542000	0.35054	8.401000	0.90202	2.199000	0.70637	0.471000	0.43371	GAG	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	Nonsense_Mutation	T	203274876	G	T	203274876	5	4	29	1	0	0	0	0	0	0	1	0	1554	1014	35	4	144	4	BTG2	1	203274876	Splice_Site	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	2021968	203274876	45975745	12	22366										
ESRRG	2104	hgsc.bcm.edu	37	chr1	216680418	216680418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgtcatcagcatcttgccagCtcgacgagggtcttccatgt	10	12	4	0	rs200999094		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:216680418C>G	ENST00000408911.3	-	7	1393	c.1240G>C	c.(1240-1242)Gct>Cct	p.A414P	ESRRG_ENST00000361395.2_Missense_Mutation_p.A391P|ESRRG_ENST00000493603.1_Missense_Mutation_p.A391P|ESRRG_ENST00000463665.1_Missense_Mutation_p.A352P|ESRRG_ENST00000359162.2_Missense_Mutation_p.A391P|ESRRG_ENST00000391890.3_Missense_Mutation_p.A398P|ESRRG_ENST00000366940.2_Missense_Mutation_p.A391P|ESRRG_ENST00000487276.1_Missense_Mutation_p.A391P|ESRRG_ENST00000366938.2_Missense_Mutation_p.A391P|ESRRG_ENST00000361525.3_Missense_Mutation_p.A391P|ESRRG_ENST00000493748.1_Missense_Mutation_p.A391P|ESRRG_ENST00000366937.1_Missense_Mutation_p.A426P|ESRRG_ENST00000360012.3_Missense_Mutation_p.A391P	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	414					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCTTGCCAGCTCGACGAGGG	0.507																																					p.A426P		Atlas-SNP	.											.	ESRRG	111	.	0			c.G1276C						PASS	.						122	107	112					1																	216680418		2203	4300	6503	SO:0001583	missense	2104	exon8			TGCCAGCTCGACG	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1240G>C	1.37:g.216680418C>G	ENSP00000386171:p.Ala414Pro	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	150	69	0.46	NM_001243518	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265011	0.80358	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.14	5.14	0.70334	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.049439	0.85682	D	0.000000	D	0.97779	0.9271	M	0.70275	2.135	0.80722	D	1	B;P;D	0.56287	0.065;0.937;0.975	B;D;P	0.67725	0.083;0.953;0.654	D	0.98581	1.0650	10	0.72032	D	0.01	.	18.6137	0.91295	0.0:1.0:0.0:0.0	.	352;426;414	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	P	391;391;426;414;391;391;391;391;391;398;352;391;391;391	ENSP00000355225:A391P;ENSP00000355907:A391P;ENSP00000355904:A426P;ENSP00000386171:A414P;ENSP00000352077:A391P;ENSP00000354584:A391P;ENSP00000355905:A391P;ENSP00000353108:A391P;ENSP00000419594:A391P;ENSP00000375761:A398P;ENSP00000418629:A352P;ENSP00000419155:A391P;ENSP00000417374:A391P	ENSP00000346386:A391P	A	-	1	0	ESRRG	214747041	1.000000	0.71417	0.261000	0.24466	0.984000	0.73092	7.818000	0.86416	2.395000	0.81488	0.561000	0.74099	GCT	C|0.999;T|0.001	.	alt		0.507	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		G	216680418	C	G	216680418	3	3	29	1	0	0	0	0	1	0	0	0	5262	797	28	4	140	4	ESRRG	1	216680418	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	13405542	216680418	32570203	13	22367										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226924565	226924565	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccaggactttgtcctccgttCctcgctccgggcgccctgaa	10	17	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:226924565C>A	ENST00000272117.3	-	1	594	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ITPKB_ENST00000429204.1_Nonsense_Mutation_p.E199*|ITPKB_ENST00000366784.1_Nonsense_Mutation_p.E199*			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	199					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTCCTCCGTTCCTCGCTCCGG	0.667																																					p.E199X	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.G595T						PASS	.						30	36	34					1																	226924565		2198	4284	6482	SO:0001587	stop_gained	3707	exon2			TCCGTTCCTCGCT	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.595G>T	1.37:g.226924565C>A	ENSP00000272117:p.Glu199*	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	46	22	0.478261	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Nonsense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	42	9.419618	0.99166	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	.	.	.	4.6	4.6	0.57074	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	14.432	0.67257	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000272117:E199X	E	-	1	0	ITPKB	224991188	0.009000	0.17119	0.972000	0.41901	0.939000	0.58152	0.733000	0.26087	2.374000	0.81015	0.561000	0.74099	GAA	.	.	none		0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226924565	C	A	226924565	4	1	29	1	0	0	0	0	0	1	0	0	7918	864	30	4	2273	4	ITPKB	1	226924565	Nonsense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	10244147	226924565	22326056	14	22368										
IRF2BP2	359948	hgsc.bcm.edu	37	chr1	234744253	234744253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caacctgcctgcagtcagggCcggctccttcttaaacttgc	9	15	2	0	rs565711940		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr1:234744253C>T	ENST00000366609.3	-	1	1018	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.A330T	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCAGTCAGGGCCGGCTCCTTC	0.637																																					p.A330T		Atlas-SNP	.											.	IRF2BP2	37	.	0			c.G988A						PASS	.						22	21	21					1																	234744253		2200	4300	6500	SO:0001583	missense	359948	exon1			TCAGGGCCGGCTC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.988G>A	1.37:g.234744253C>T	ENSP00000355568:p.Ala330Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	61	29	0.47541	NM_182972	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406532	0.62399	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.32023	1.5;1.47	4.81	3.9	0.45041	.	0.264544	0.37053	N	0.002279	T	0.25121	0.0610	L	0.44542	1.39	0.35796	D	0.822801	B;B	0.19331	0.02;0.035	B;B	0.16289	0.007;0.015	T	0.19353	-1.0308	10	0.33940	T	0.23	-5.1635	10.9107	0.47108	0.0:0.9118:0.0:0.0882	.	330;330	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	T	330	ENSP00000355569:A330T;ENSP00000355568:A330T	ENSP00000355568:A330T	A	-	1	0	IRF2BP2	232810876	0.961000	0.32948	1.000000	0.80357	0.998000	0.95712	1.793000	0.38764	1.230000	0.43646	0.561000	0.74099	GCC	.	.	none		0.637	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		T	234744253	C	T	234744253	3	4	29	1	0	0	0	0	1	0	0	0	7830	739	26	2	783	2	IRF2BP2	1	234744253	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7819688	234744253	14506368	15	22369										
MBOAT2	129642	hgsc.bcm.edu	37	chr2	9028160	9028160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	attcttaccatcatgaatttCgcaagccaaactagtgatct	5	10	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:9028160C>T	ENST00000305997.3	-	5	637	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	147					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E147K(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCATGAATTTCGCAAGCCAAA	0.274																																					p.E147K	Ovarian(194;1699 3813 22401)	Atlas-SNP	.											MBOAT2,caecum,carcinoma,0,2	MBOAT2	36	2	1	Substitution - Missense(1)	large_intestine(1)	c.G439A						PASS	.						68	78	74					2																	9028160		2201	4292	6493	SO:0001583	missense	129642	exon5			GAATTTCGCAAGC	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.439G>A	2.37:g.9028160C>T	ENSP00000302177:p.Glu147Lys	Somatic	531	1	0.00188324		WXS	Illumina HiSeq	Phase_I	456	218	0.47807	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458328	0.84317	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T;T	0.74421	-0.84;-0.84	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.70595	2.14	0.58432	D	0.999992	D;D	0.62365	0.991;0.991	P;P	0.56612	0.802;0.802	D	0.83379	0.0011	10	0.52906	T	0.07	-24.9514	17.9261	0.88983	0.0:1.0:0.0:0.0	.	147;147	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	K	147;124	ENSP00000302177:E147K;ENSP00000417409:E124K	ENSP00000302177:E147K	E	-	1	0	MBOAT2	8945611	1.000000	0.71417	0.967000	0.41034	0.919000	0.55068	5.638000	0.67861	2.767000	0.95098	0.655000	0.94253	GAA	.	.	none		0.274	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		T	9028160	C	T	9028160	3	4	29	1	0	0	0	0	1	0	0	0	9357	893	31	1	1159	1	MBOAT2	2	9028160	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		9028160	234171213	16	22370										
LRRTM4	80059	hgsc.bcm.edu	37	chr2	77746080	77746080	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atatttccagacaatgtgatGgatattaatgatatccacgc	7	7	0	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:77746080G>T	ENST00000409093.1	-	3	1251	c.915C>A	c.(913-915)tcC>tcA	p.S305S	LRRTM4_ENST00000409884.1_Silent_p.S305S|LRRTM4_ENST00000409282.1_Silent_p.S306S|LRRTM4_ENST00000409088.3_Silent_p.S305S|LRRTM4_ENST00000409911.1_Silent_p.S306S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	305					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACAATGTGATGGATATTAATG	0.353																																					p.S305S		Atlas-SNP	.											.	LRRTM4	334	.	0			c.C915A						PASS	.						45	40	42					2																	77746080		1858	4108	5966	SO:0001819	synonymous_variant	80059	exon3			TGTGATGGATATT	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.915C>A	2.37:g.77746080G>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	96	43	0.447917	NM_024993	Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	CCDS46346.1																																																																																			.	.	none		0.353	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77746080	G	T	77746080	2	4	29	1	0	0	0	0	0	0	0	1	9042	1335	47	4		4	LRRTM4	2	77746080	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	68717920	77746080	165453293	17	22371										
POLR1A	25885	hgsc.bcm.edu	37	chr2	86302316	86302316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cattagggccgttgatgaccGcttgcctaagttcctgaaca	10	11	0	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:86302316G>A	ENST00000263857.6	-	12	1826	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A483V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	483					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTTGATGACCGCTTGCCTAAG	0.552																																					p.A483V		Atlas-SNP	.											POLR1A,NS,carcinoma,0,1	POLR1A	137	1	0			c.C1448T						scavenged	.						36	38	37					2																	86302316		2009	4181	6190	SO:0001583	missense	25885	exon12			ATGACCGCTTGCC	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1448C>T	2.37:g.86302316G>A	ENSP00000263857:p.Ala483Val	Somatic	144	1	0.00694444		WXS	Illumina HiSeq	Phase_I	109	42	0.385321	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084366	0.55861	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68025	-0.3;-0.3	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.101743	0.64402	D	0.000003	T	0.81375	0.4809	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.80358	-0.1416	10	0.38643	T	0.18	-15.9554	18.1227	0.89577	0.0:0.0:1.0:0.0	.	483	O95602	RPA1_HUMAN	V	483	ENSP00000263857:A483V;ENSP00000386300:A483V	ENSP00000263857:A483V	A	-	2	0	POLR1A	86155827	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.165000	0.94761	2.606000	0.88127	0.655000	0.94253	GCG	.	.	none		0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86302316	G	A	86302316	3	1	29	1	0	0	0	0	1	0	0	0	12209	1087	38	1	3806	1	POLR1A	2	86302316	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	8556236	86302316	156897057	18	22372										
PTPN18	26469	hgsc.bcm.edu	37	chr2	131130741	131130741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttctcccaggtttcaacctgCgcattgggaggccgaagggt	13	11	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:131130741C>T	ENST00000175756.5	+	15	1428	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	PTPN18_ENST00000347849.3_Missense_Mutation_p.R336C	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	443					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TTTCAACCTGCGCATTGGGAG	0.617																																					p.R443C		Atlas-SNP	.											PTPN18,colon,carcinoma,0,1	PTPN18	42	1	0			c.C1327T						PASS	.						41	38	39					2																	131130741		2203	4300	6503	SO:0001583	missense	26469	exon15			AACCTGCGCATTG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1327C>T	2.37:g.131130741C>T	ENSP00000175756:p.Arg443Cys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_014369	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083313	0.76642	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.36699	2.13;1.24	5.29	5.29	0.74685	.	0.000000	0.39146	N	0.001451	T	0.56485	0.1988	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.57974	-0.7718	10	0.87932	D	0	.	14.8028	0.69929	0.0:1.0:0.0:0.0	.	422;443;336	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	C	443;336;422	ENSP00000175756:R443C;ENSP00000310092:R336C	ENSP00000175756:R443C	R	+	1	0	PTPN18	130847211	0.996000	0.38824	1.000000	0.80357	0.449000	0.32228	3.714000	0.54889	2.634000	0.89283	0.655000	0.94253	CGC	.	.	none		0.617	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			T	131130741	C	T	131130741	3	4	29	1	0	0	0	0	1	0	0	0	12784	768	27	1	1385	1	PTPN18	2	131130741	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	44828425	131130741	112068632	19	22373										
SCN2A	6326	hgsc.bcm.edu	37	chr2	166201313	166201313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tccttcctgatcgtgttccgCgtgctgtgtggagagtggat	14	9	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:166201313C>T	ENST00000375437.2	+	16	3101	c.2811C>T	c.(2809-2811)cgC>cgT	p.R937R	SCN2A_ENST00000283256.6_Silent_p.R937R|SCN2A_ENST00000375427.2_Silent_p.R937R|SCN2A_ENST00000357398.3_Silent_p.R937R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	937					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGTGTTCCGCGTGCTGTGTG	0.488																																					p.R937R		Atlas-SNP	.											.	SCN2A	589	.	0			c.C2811T						PASS	.						254	221	232					2																	166201313		2203	4300	6503	SO:0001819	synonymous_variant	6326	exon15			GTTCCGCGTGCTG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2811C>T	2.37:g.166201313C>T		Somatic	341	1	0.00293255		WXS	Illumina HiSeq	Phase_I	263	134	0.509506	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.	.	none		0.488	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166201313	C	T	166201313	2	4	29	1	0	0	0	0	0	0	0	1	13916	755	27	1		1	SCN2A	2	166201313	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	35070572	166201313	76998060	20	22374										
DNAH7	56171	hgsc.bcm.edu	37	chr2	196852948	196852948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aaggttgttggtttagacttActttcctaaacaagggggta	11	5	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:196852948A>G	ENST00000312428.6	-	13	1459	c.1359T>C	c.(1357-1359)agT>agC	p.S453S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	453	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTTAGACTTACTTTCCTAAA	0.308																																					p.S453S		Atlas-SNP	.											.	DNAH7	512	.	0			c.T1359C						PASS	.						59	56	57					2																	196852948		1803	4063	5866	SO:0001819	synonymous_variant	56171	exon13			AGACTTACTTTCC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1359T>C	2.37:g.196852948A>G		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	202	79	0.391089	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																			.	.	none		0.308	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196852948	A	G	196852948	2	3	29	1	0	0	0	0	0	0	0	1	4606	388	14	2		2	DNAH7	2	196852948	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	30651635	196852948	46346425	21	22375										
FZD7	8324	hgsc.bcm.edu	37	chr2	202899479	202899479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccggggcgcagccgtaccacGgagagaagggcatctccgtg	16	13	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:202899479G>A	ENST00000286201.1	+	1	170	c.109G>A	c.(109-111)Gga>Aga	p.G37R	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	37					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCCGTACCACGGAGAGAAGGG	0.711																																					p.G37R		Atlas-SNP	.											.	FZD7	70	.	0			c.G109A						PASS	.						69	62	65					2																	202899479		2203	4300	6503	SO:0001583	missense	8324	exon1			TACCACGGAGAGA	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.109G>A	2.37:g.202899479G>A	ENSP00000286201:p.Gly37Arg	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_003507	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423917	0.43020	.	.	ENSG00000155760	ENST00000286201	T	0.75704	-0.96	4.36	3.47	0.39725	.	0.211632	0.38492	U	0.001662	T	0.67202	0.2868	L	0.32530	0.975	0.52501	D	0.99995	P	0.48089	0.905	P	0.45913	0.497	T	0.66756	-0.5843	10	0.48119	T	0.1	.	11.8692	0.52511	0.0864:0.0:0.9136:0.0	.	37	O75084	FZD7_HUMAN	R	37	ENSP00000286201:G37R	ENSP00000286201:G37R	G	+	1	0	FZD7	202607724	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.093000	0.71422	0.799000	0.34018	0.313000	0.20887	GGA	.	.	none		0.711	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		A	202899479	G	A	202899479	3	1	29	1	0	0	0	0	1	0	0	0	6135	1117	39	1	111	1	FZD7	2	202899479	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	6046531	202899479	40299894	22	22376										
SPHKAP	80309	hgsc.bcm.edu	37	chr2	228882550	228882550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	taagctcagggtgctcgtccGtcttcctcttgatctcactg	9	13	4	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr2:228882550G>A	ENST00000392056.3	-	7	3066	c.3020C>T	c.(3019-3021)aCg>aTg	p.T1007M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1007M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1007						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T1007M(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGCTCGTCCGTCTTCCTCTT	0.517																																					p.T1007M		Atlas-SNP	.											SPHKAP_ENST00000392056,NS,carcinoma,0,4	SPHKAP	750	4	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.C3020T						scavenged	.						91	79	83					2																	228882550		2203	4300	6503	SO:0001583	missense	80309	exon7			TCGTCCGTCTTCC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3020C>T	2.37:g.228882550G>A	ENSP00000375909:p.Thr1007Met	Somatic	149	1	0.00671141		WXS	Illumina HiSeq	Phase_I	131	59	0.450382	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965491	0.74131	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.20738	2.06;2.05	6.08	6.08	0.98989	.	0.044434	0.85682	D	0.000000	T	0.38268	0.1034	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.975;0.964;0.993	T	0.06826	-1.0805	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	38;1007;1007	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1007	ENSP00000375909:T1007M;ENSP00000339886:T1007M	ENSP00000339886:T1007M	T	-	2	0	SPHKAP	228590794	1.000000	0.71417	0.553000	0.28255	0.787000	0.44495	9.020000	0.93667	2.894000	0.99253	0.655000	0.94253	ACG	.	.	none		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228882550	G	A	228882550	3	1	29	1	0	0	0	0	1	0	0	0	15047	1145	40	1	2106	1	SPHKAP	2	228882550	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	25983071	228882550	14316823	23	22377										
PRRT3	285368	hgsc.bcm.edu	37	chr3	9991706	9991706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttcggagttttcaagtggccTgggaaagcccctccccaggg	13	12	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:9991706T>C	ENST00000412055.1	-	2	223	c.94A>G	c.(94-96)Agg>Ggg	p.R32G	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.R32G	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	32						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TCAAGTGGCCTGGGAAAGCCC	0.632																																					p.R32G		Atlas-SNP	.											.	PRRT3	35	.	0			c.A94G						PASS	.						40	45	43					3																	9991706		1875	4109	5984	SO:0001583	missense	285368	exon2			GTGGCCTGGGAAA	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.94A>G	3.37:g.9991706T>C	ENSP00000392511:p.Arg32Gly	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	72	37	0.513889	NM_207351	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	T	6.596	0.478299	0.12521	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.22336	2.27;1.96	3.99	-0.116	0.13555	.	0.770020	0.11482	N	0.559607	T	0.11922	0.0290	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.32295	-0.9912	9	.	.	.	-1.4593	2.4229	0.04453	0.208:0.2375:0.0:0.5545	.	32;32	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	G	32	ENSP00000392511:R32G;ENSP00000404512:R32G	.	R	-	1	2	PRRT3	9966706	0.099000	0.21834	0.007000	0.13788	0.098000	0.18820	0.390000	0.20768	0.198000	0.20407	0.455000	0.32223	AGG	.	.	none		0.632	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		C	9991706	T	C	9991706	3	2	29	1	0	0	0	0	1	0	0	0	12611	1579	55	3	2863	3	PRRT3	3	9991706	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10		9991706	188030724	24	22378										
FANCD2	2177	hgsc.bcm.edu	37	chr3	10080992	10080992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgatgaaatcaacatacctcGactcattgtcagtcaactaa	5	10	4	2	rs41291203		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:10080992G>A	ENST00000419585.1	+	8	682	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	FANCD2_ENST00000287647.3_Missense_Mutation_p.R174Q|FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000383806.1_Missense_Mutation_p.R174Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R174Q|RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000431693.1_Missense_Mutation_p.R174Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	174	Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AACATACCTCGACTCATTGTC	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				g|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.001	False		,,,				2504	0.0				p.R174Q		Atlas-SNP	.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	FANCD2	253	.	0			c.G521A						PASS	.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	85	78	80		521,521	4.8	1	3	dbSNP_127	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	174/1452,174/1472	10080992	1,13005	2203	4300	6503	SO:0001583	missense	2177	exon8	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TACCTCGACTCAT	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.521G>A	3.37:g.10080992G>A	ENSP00000398754:p.Arg174Gln	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	129	58	0.449612	NM_001018115	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.7	4.326378	0.81690	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.68	4.81	0.61882	.	0.109676	0.64402	D	0.000010	T	0.62768	0.2455	M	0.81682	2.555	0.42202	D	0.991775	D;D;P	0.53462	0.96;0.96;0.848	B;P;B	0.47376	0.421;0.545;0.241	T	0.63056	-0.6722	10	0.27082	T	0.32	.	11.7293	0.51726	0.0845:0.0:0.9155:0.0	rs41291203	174;174;174	Q9BXW9-2;Q9BXW9;Q9BXW9-4	.;FACD2_HUMAN;.	Q	174	ENSP00000287647:R174Q;ENSP00000373318:R174Q;ENSP00000373317:R174Q;ENSP00000398754:R174Q;ENSP00000399354:R174Q	ENSP00000287647:R174Q	R	+	2	0	FANCD2	10055992	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.865000	0.56033	2.689000	0.91719	0.579000	0.79373	CGA	G|1.000;A|0.000	0.000	strong		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			A	10080992	G	A	10080992	3	1	29	1	0	0	0	0	1	0	0	0	5665	1058	37	1	547	1	FANCD2	3	10080992	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	89286	10080992	187941438	25	22379										
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022391	32022391	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcgggcggctggcgcgttacCtgttctgccagccctggagg	17	13	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022391C>T	ENST00000396556.2	-	1	403	c.281G>A	c.(280-282)aGg>aAg	p.R94K	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Splice_Site_p.R94K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGCGCGTTACCTGTTCTGCCA	0.687																																					p.R94K		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G281A						PASS	.						18	19	18					3																	32022391		2198	4284	6482	SO:0001630	splice_region_variant	114884	exon1			CGTTACCTGTTCT	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.281+1G>A	3.37:g.32022391C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	70	34	0.485714	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883001	0.91740	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.72282	0.94;-0.64	3.84	3.84	0.44239	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	H	0.97918	4.105	0.38634	D	0.951444	D;P	0.57257	0.979;0.818	D;D	0.71414	0.973;0.93	D	0.93430	0.6784	9	.	.	.	-10.3747	13.6161	0.62108	0.0:1.0:0.0:0.0	.	94;94	B4E212;Q9BXB5	.;OSB10_HUMAN	K	94	ENSP00000379804:R94K;ENSP00000406124:R94K	.	R	-	2	0	OSBPL10	31997395	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.335000	0.52105	2.140000	0.66376	0.462000	0.41574	AGG	.	.	none		0.687	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		Missense_Mutation	T	32022391	C	T	32022391	5	4	29	1	0	0	0	0	0	0	1	0	11275	695	24	2	2061	2	OSBPL10	3	32022391	Splice_Site	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	21941399	32022391	166000039	26	22380			1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022420	32022420	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cagccctggaggaggttggtGtatttgctgagcacgccctc	14	11	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022420G>T	ENST00000396556.2	-	1	374	c.252C>A	c.(250-252)taC>taA	p.Y84*	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.Y84*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGAGGTTGGTGTATTTGCTGA	0.716																																					p.Y84X		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C252A						PASS	.						23	23	23					3																	32022420		2199	4294	6493	SO:0001587	stop_gained	114884	exon1			GTTGGTGTATTTG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.252C>A	3.37:g.32022420G>T	ENSP00000379804:p.Tyr84*	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_017784	B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	39	7.644893	0.98409	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	.	.	.	4.13	4.13	0.48395	.	0.088789	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-10.6464	14.2571	0.66060	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000379804:Y84X	Y	-	3	2	OSBPL10	31997424	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.299000	0.78831	2.301000	0.77427	0.462000	0.41574	TAC	.	.	none		0.716	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	32022420	G	T	32022420	4	4	29	1	0	0	0	0	0	1	0	0	11275	1372	48	4	2090	4	OSBPL10	3	32022420	Nonsense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	29	32022420	166000010	27	22381			1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022431	32022431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gaggttggtgtatttgctgaGcacgccctcgagcgccggct	15	11	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022431G>A	ENST00000396556.2	-	1	363	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.L81F	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	81	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TATTTGCTGAGCACGCCCTCG	0.736																																					p.L81F		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C241T						PASS	.						22	22	22					3																	32022431		2197	4295	6492	SO:0001583	missense	114884	exon1			TGCTGAGCACGCC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.241C>T	3.37:g.32022431G>A	ENSP00000379804:p.Leu81Phe	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	76	37	0.486842	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001027	0.74818	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.71341	-0.56;-0.23	4.13	4.13	0.48395	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.208621	0.31872	N	0.006927	D	0.89132	0.6628	H	0.97340	3.985	0.32435	N	0.547512	D;D	0.89917	0.997;1.0	D;D	0.97110	0.939;1.0	D	0.92912	0.6348	10	0.87932	D	0	-9.416	14.2571	0.66060	0.0:0.0:1.0:0.0	.	81;81	B4E212;Q9BXB5	.;OSB10_HUMAN	F	81	ENSP00000379804:L81F;ENSP00000406124:L81F	ENSP00000379804:L81F	L	-	1	0	OSBPL10	31997435	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.609000	0.61148	2.301000	0.77427	0.462000	0.41574	CTC	.	.	none		0.736	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	32022431	G	A	32022431	3	1	29	1	0	0	0	0	1	0	0	0	11275	971	34	2	2101	2	OSBPL10	3	32022431	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	11	32022431	165999999	28	22382			1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022569	32022569	+	Silent	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggagaccccccggcccgccaGagagcaggagggcgaggagc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022569G>A	ENST00000396556.2	-	1	225	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Silent_p.L35L	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	35					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CGGCCCGCCAGAGAGCAGGAG	0.781																																					p.L35L		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C103T						PASS	.						1	2	2					3																	32022569		772	1638	2410	SO:0001819	synonymous_variant	114884	exon1			CCGCCAGAGAGCA	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.103C>T	3.37:g.32022569G>A		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	72	35	0.486111	NM_017784	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																			.	.	none		0.781	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	32022569	G	A	32022569	2	1	29	1	0	0	0	0	0	0	0	1	11275	933	33	2		2	OSBPL10	3	32022569	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	138	32022569	165999861	29	22383	449	3	1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022573	32022573	+	Silent	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	accccccggcccgccagagaGcaggagggcgaggagcccgc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022573G>A	ENST00000396556.2	-	1	221	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Silent_p.C33C	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	33					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCGCCAGAGAGCAGGAGGGCG	0.771																																					p.C33C		Atlas-SNP	.											.	OSBPL10	160	.	0			c.C99T						PASS	.						1	2	2					3																	32022573		809	1712	2521	SO:0001819	synonymous_variant	114884	exon1			CAGAGAGCAGGAG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.99C>T	3.37:g.32022573G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_017784	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																			.	.	none		0.771	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	32022573	G	A	32022573	2	1	29	1	0	0	0	0	0	0	0	1	11275	963	34	2		2	OSBPL10	3	32022573	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	4	32022573	165999857	30	22384	449	3	1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022574	32022574	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccccccggcccgccagagagCaggagggcgaggagcccgcc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022574C>T	ENST00000396556.2	-	1	220	c.98G>A	c.(97-99)tGc>tAc	p.C33Y	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.C33Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	33					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CGCCAGAGAGCAGGAGGGCGA	0.766																																					p.C33Y		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G98A						PASS	.						1	2	2					3																	32022574		814	1720	2534	SO:0001583	missense	114884	exon1			AGAGAGCAGGAGG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.98G>A	3.37:g.32022574C>T	ENSP00000379804:p.Cys33Tyr	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	70	35	0.5	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317836	0.40996	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.21734	1.99;2.31	4.07	4.07	0.47477	.	0.908584	0.09077	N	0.851908	T	0.12561	0.0305	N	0.08118	0	0.27201	N	0.960169	B;B	0.18461	0.028;0.028	B;B	0.12156	0.007;0.007	T	0.07252	-1.0782	10	0.59425	D	0.04	-4.5991	10.0692	0.42322	0.0:0.7946:0.2054:0.0	.	33;33	B4E212;Q9BXB5	.;OSB10_HUMAN	Y	33	ENSP00000379804:C33Y;ENSP00000406124:C33Y	ENSP00000379804:C33Y	C	-	2	0	OSBPL10	31997578	0.942000	0.31987	1.000000	0.80357	0.923000	0.55619	0.426000	0.21363	2.271000	0.75665	0.313000	0.20887	TGC	.	.	none		0.766	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	32022574	C	T	32022574	3	4	29	1	0	0	0	0	1	0	0	0	11275	710	25	2	2244	2	OSBPL10	3	32022574	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	1	32022574	165999856	31	22385	449	3	1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022613	32022613	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccgaggtagcacggctgctgCtgcggctgctgctgttgcta					rs549917934	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022613C>T	ENST00000396556.2	-	1	181	c.59G>A	c.(58-60)aGc>aAc	p.S20N	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.S20N	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	20					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACGgctgctgctgcggctgct	0.791																																					p.S20N		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G59A						PASS	.						2	3	2					3																	32022613		709	1576	2285	SO:0001583	missense	114884	exon1			CTGCTGCTGCGGC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.59G>A	3.37:g.32022613C>T	ENSP00000379804:p.Ser20Asn	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	113	48	0.424779	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691082	0.48097	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.23552	1.9;2.19	4.02	4.02	0.46733	.	0.741172	0.11593	N	0.548529	T	0.18964	0.0455	N	0.14661	0.345	0.32706	N	0.512265	P;P	0.51791	0.9;0.948	B;B	0.43783	0.289;0.431	T	0.11616	-1.0580	10	0.35671	T	0.21	-3.7958	14.0918	0.64995	0.0:1.0:0.0:0.0	.	20;20	B4E212;Q9BXB5	.;OSB10_HUMAN	N	20	ENSP00000379804:S20N;ENSP00000406124:S20N	ENSP00000379804:S20N	S	-	2	0	OSBPL10	31997617	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.559000	0.45888	2.262000	0.75019	0.298000	0.19748	AGC	.	.	none		0.791	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	32022613	C	T	32022613	3	4	29	1	0	0	0	0	1	0	0	0	11275	797	28	2	2283	2	OSBPL10	3	32022613	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	39	32022613	165999817	32	22386	450	2	1	97		8	5	229	N	G_C	1.308717e-13
OSBPL10	114884	hgsc.bcm.edu	37	chr3	32022619	32022619	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tagcacggctgctgctgcggCtgctgctgttgctacccccg							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:32022619C>T	ENST00000396556.2	-	1	175	c.53G>A	c.(52-54)aGc>aAc	p.S18N	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.S18N	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	18					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		gctgctgcggctgctgctgtt	0.796																																					p.S18N		Atlas-SNP	.											.	OSBPL10	160	.	0			c.G53A						PASS	.						2	3	2					3																	32022619		664	1482	2146	SO:0001583	missense	114884	exon1			CTGCGGCTGCTGC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.53G>A	3.37:g.32022619C>T	ENSP00000379804:p.Ser18Asn	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	114	60	0.526316	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925701	0.52759	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.23754	1.89;2.21	3.91	3.91	0.45181	.	1.365760	0.06023	N	0.651587	T	0.18964	0.0455	N	0.14661	0.345	0.32030	N	0.59962	B;B	0.27498	0.18;0.18	B;B	0.18871	0.023;0.023	T	0.08066	-1.0740	10	0.49607	T	0.09	.	13.8256	0.63348	0.0:1.0:0.0:0.0	.	18;18	B4E212;Q9BXB5	.;OSB10_HUMAN	N	18	ENSP00000379804:S18N;ENSP00000406124:S18N	ENSP00000379804:S18N	S	-	2	0	OSBPL10	31997623	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.935000	0.48963	2.196000	0.70406	0.298000	0.19748	AGC	.	.	none		0.796	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	32022619	C	T	32022619	3	4	29	1	0	0	0	0	1	0	0	0	11275	797	28	2	2289	2	OSBPL10	3	32022619	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	6	32022619	165999811	33	22387	450	2	1	97		8	5	229	N	G_C	1.308717e-13
MYD88	4615	hgsc.bcm.edu	37	chr3	38182641	38182641	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aggtgcccatcagaagcgacTgatccccatcaagtacaagg	10	12	2	2	rs387907272		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:38182641T>C	ENST00000495303.1	+	3	483	c.478T>C	c.(478-480)Tga>Cga	p.*160R	MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R|MYD88_ENST00000424893.1_Missense_Mutation_p.L220P|MYD88_ENST00000481122.1_3'UTR	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.L265P(188)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAAGCGACTGATCCCCATC	0.552			Mis		ABC-DLBCL								T|||	1	0.000199681	0.0	0.0	5008	,	,		22034	0.0		0.001	False		,,,				2504	0.0				p.X205R		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	MYD88,NS,lymphoid_neoplasm,0,828	MYD88	900	828	188	Substitution - Missense(188)	haematopoietic_and_lymphoid_tissue(188)	c.T613C						PASS	.						148	119	129					3																	38182641		2203	4300	6503	SO:0001578	stop_lost	4615	exon4			AGCGACTGATCCC	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.478T>C	3.37:g.38182641T>C	ENSP00000417848:p.*160Argext*8	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	27	0.490909	NM_001172569	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.710754|3.710754	0.68730|0.68730	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.15487|.	2.42;2.42;2.42;2.42|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71676|.	0.3368|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.70626|.	-0.4820|.	9|.	0.87932|.	D|.	0|.	-17.9268|-17.9268	15.535|15.535	0.75996|0.75996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207;252;241|.	Q99836-2;Q99836;B4E3D6|.	.;MYD88_HUMAN;.|.	P|R	273;265;220;272;241|160;205	ENSP00000401399:L273P;ENSP00000379625:L265P;ENSP00000389979:L220P;ENSP00000391753:L272P|.	ENSP00000379625:L265P|.	L|X	+|+	2|1	0|0	MYD88|MYD88	38157645|38157645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.639000|7.639000	0.83342|0.83342	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CTG|TGA	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		C	38182641	T	C	38182641	4	2	29	1	0	0	0	0	0	0	0	0	10023	1593	55	3	836	3	MYD88	3	38182641	Nonstop_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	6160022	38182641	159839789	34	22388										
LIMD1	8994	hgsc.bcm.edu	37	chr3	45636456	45636456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aggcctctaaggatgggctcTtccgagtggacaagggtgca	15	9	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:45636456T>C	ENST00000273317.4	+	1	106	c.85T>C	c.(85-87)Ttc>Ctc	p.F29L	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Missense_Mutation_p.F29L|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	29					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGATGGGCTCTTCCGAGTGGA	0.552																																					p.F29L		Atlas-SNP	.											.	LIMD1	34	.	0			c.T85C						PASS	.						69	69	69					3																	45636456		2203	4300	6503	SO:0001583	missense	8994	exon1			GGGCTCTTCCGAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.85T>C	3.37:g.45636456T>C	ENSP00000273317:p.Phe29Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	43	37	0.860465	NM_014240	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993146	0.93167	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.73258	-0.73;-0.49	4.22	4.22	0.49857	.	0.140211	0.48286	D	0.000190	T	0.73140	0.3549	N	0.24115	0.695	0.50171	D	0.999852	D	0.69078	0.997	D	0.70716	0.97	T	0.76740	-0.2848	10	0.66056	D	0.02	.	13.3316	0.60490	0.0:0.0:0.0:1.0	.	29	Q9UGP4	LIMD1_HUMAN	L	29	ENSP00000394537:F29L;ENSP00000273317:F29L	ENSP00000273317:F29L	F	+	1	0	LIMD1	45611460	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.626000	0.83164	1.550000	0.49438	0.379000	0.24179	TTC	.	.	none		0.552	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		C	45636456	T	C	45636456	3	2	29	1	0	0	0	0	1	0	0	0	8798	1609	56	3	87	3	LIMD1	3	45636456	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	7453815	45636456	152385974	35	22389										
NISCH	11188	hgsc.bcm.edu	37	chr3	52521970	52521970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcacatggccatgctgtgtaGccccatcctctacggcagcc	10	16	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:52521970G>T	ENST00000479054.1	+	17	2534	c.2462G>T	c.(2461-2463)aGc>aTc	p.S821I	NISCH_ENST00000345716.4_Missense_Mutation_p.S821I			Q9Y2I1	NISCH_HUMAN	nischarin	821	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATGCTGTGTAGCCCCATCCTC	0.637																																					p.S821I		Atlas-SNP	.											.	NISCH	97	.	0			c.G2462T						PASS	.																																			SO:0001583	missense	11188	exon16			TGTGTAGCCCCAT	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2462G>T	3.37:g.52521970G>T	ENSP00000418232:p.Ser821Ile	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	25	17	0.68	NM_007184	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154440	0.38021	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.08008	3.14;3.14	5.04	3.91	0.45181	.	0.473507	0.24508	N	0.037909	T	0.04634	0.0126	N	0.19112	0.55	0.29426	N	0.860202	B	0.30824	0.296	B	0.23275	0.045	T	0.17837	-1.0356	10	0.32370	T	0.25	-32.2783	7.2654	0.26227	0.1185:0.0:0.7221:0.1594	.	821	Q9Y2I1	NISCH_HUMAN	I	821;821;165	ENSP00000418232:S821I;ENSP00000339958:S821I	ENSP00000339958:S821I	S	+	2	0	NISCH	52497010	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.986000	0.40677	2.504000	0.84457	0.561000	0.74099	AGC	.	.	none		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		T	52521970	G	T	52521970	3	4	29	1	0	0	0	0	1	0	0	0	10432	971	34	4	2524	4	NISCH	3	52521970	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	6885514	52521970	145500460	36	22390										
ARHGEF3	50650	hgsc.bcm.edu	37	chr3	56763546	56763546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aactgtttctttggcttgacGaatacagttaagccactgct	8	9	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:56763546G>A	ENST00000296315.3	-	10	1501	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R477C|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R451C|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R451C|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R416C	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	445	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTGGCTTGACGAATACAGTTA	0.488																																					p.R477C		Atlas-SNP	.											ARHGEF3_ENST00000413728,NS,carcinoma,0,4	ARHGEF3	128	4	0			c.C1429T						scavenged	.						125	127	126					3																	56763546		2203	4300	6503	SO:0001583	missense	50650	exon13			CTTGACGAATACA	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1333C>T	3.37:g.56763546G>A	ENSP00000296315:p.Arg445Cys	Somatic	292	2	0.00684932		WXS	Illumina HiSeq	Phase_I	260	122	0.469231	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226831	0.79576	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.987;0.992;0.999;0.994;0.987;0.997	T	0.63328	-0.6662	10	0.87932	D	0	-11.142	20.3789	0.98926	0.0:0.0:1.0:0.0	.	451;416;243;477;445;451	E9PG37;E7EU49;Q9NR81-4;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	C	445;477;451;451;416	ENSP00000296315:R445C;ENSP00000341071:R477C;ENSP00000410922:R451C;ENSP00000420420:R451C;ENSP00000418826:R416C	ENSP00000296315:R445C	R	-	1	0	ARHGEF3	56738586	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.366000	0.59492	2.826000	0.97356	0.563000	0.77884	CGT	.	.	none		0.488	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		A	56763546	G	A	56763546	3	1	29	1	0	0	0	0	1	0	0	0	904	1058	37	1	251	1	ARHGEF3	3	56763546	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	4241576	56763546	141258884	37	22391										
PRICKLE2	166336	hgsc.bcm.edu	37	chr3	64085223	64085223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	acctgtgaggtcggaaacggCggttgtcgtcgcgtgaagta	16	8	0	2	rs139750623		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:64085223C>T	ENST00000295902.6	-	8	2624	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R736H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	680	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCGGAAACGGCGGTTGTCGTC	0.647																																					p.R680H		Atlas-SNP	.											PRICKLE2,colon,carcinoma,-1,1	PRICKLE2	88	1	0			c.G2039A						PASS	.						44	47	46					3																	64085223		2203	4300	6503	SO:0001583	missense	166336	exon8			AAACGGCGGTTGT	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2039G>A	3.37:g.64085223C>T	ENSP00000295902:p.Arg680His	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	53	25	0.471698	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926661	0.34002	.	.	ENSG00000163637	ENST00000295902	D	0.84944	-1.92	5.63	4.76	0.60689	.	0.082334	0.53938	D	0.000057	T	0.75250	0.3824	N	0.25647	0.755	0.58432	D	0.999994	B	0.10296	0.003	B	0.06405	0.002	T	0.68903	-0.5286	10	0.33141	T	0.24	-33.4654	10.4637	0.44594	0.0:0.8524:0.0:0.1476	.	680	Q7Z3G6	PRIC2_HUMAN	H	680	ENSP00000295902:R680H	ENSP00000295902:R680H	R	-	2	0	PRICKLE2	64060263	1.000000	0.71417	0.918000	0.36340	0.854000	0.48673	3.606000	0.54095	1.382000	0.46385	0.591000	0.81541	CGC	.	.	none		0.647	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		T	64085223	C	T	64085223	3	4	29	1	0	0	0	0	1	0	0	0	12487	768	27	1	499	1	PRICKLE2	3	64085223	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7321677	64085223	133937207	38	22392										
FNDC3B	64778	hgsc.bcm.edu	37	chr3	172025174	172025174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtgtatgccatgtacaattcCgtaaagggatcctgctccga	10	10	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:172025174C>T	ENST00000336824.4	+	10	1182	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	FNDC3B_ENST00000416957.1_Silent_p.S361S|FNDC3B_ENST00000415807.2_Silent_p.S361S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGTACAATTCCGTAAAGGGAT	0.493																																					p.S361S		Atlas-SNP	.											.	FNDC3B	118	.	0			c.C1083T						PASS	.						152	130	137					3																	172025174		2203	4300	6503	SO:0001819	synonymous_variant	64778	exon10			CAATTCCGTAAAG	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1083C>T	3.37:g.172025174C>T		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	82	42	0.512195	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																			.	.	none		0.493	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		T	172025174	C	T	172025174	2	4	29	1	0	0	0	0	0	0	0	1	5970	639	23	1		1	FNDC3B	3	172025174	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	107939951	172025174	25997256	39	22393										
TBL1XR1	79718	hgsc.bcm.edu	37	chr3	176756174	176756174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gaatgcacatatctgtactaCaagaagcaaaggtgttgttg	10	6	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr3:176756174C>A	ENST00000430069.1	-	11	1233	c.974G>T	c.(973-975)tGt>tTt	p.C325F	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.C325F			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	325					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.C325S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATCTGTACTACAAGAAGCAAA	0.373																																					p.C325F		Atlas-SNP	.											TBL1XR1,NS,carcinoma,0,1	TBL1XR1	87	1	1	Substitution - Missense(1)	lung(1)	c.G974T						PASS	.						110	98	102					3																	176756174		1878	4117	5995	SO:0001583	missense	79718	exon11			GTACTACAAGAAG	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.974G>T	3.37:g.176756174C>A	ENSP00000405574:p.Cys325Phe	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	104	99	0.951923	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753034	0.89753	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.81996	-1.56;-1.56	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93618	0.6945	10	0.66056	D	0.02	-5.1506	19.0789	0.93173	0.0:1.0:0.0:0.0	.	325	Q9BZK7	TBL1R_HUMAN	F	325;325;187	ENSP00000405574:C325F;ENSP00000413251:C325F	ENSP00000405574:C325F	C	-	2	0	TBL1XR1	178238868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.787000	0.85759	2.754000	0.94517	0.585000	0.79938	TGT	.	.	none		0.373	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		A	176756174	C	A	176756174	3	1	29	1	0	0	0	0	1	0	0	0	15637	478	17	4	594	4	TBL1XR1	3	176756174	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	4731000	176756174	21266256	40	22394										
GPR125	166647	hgsc.bcm.edu	37	chr4	22389666	22389666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tccttcgttattgcccagccGgcttttaggtaagccgttct	9	12	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:22389666G>A	ENST00000334304.5	-	19	3897	c.3628C>T	c.(3628-3630)Cgg>Tgg	p.R1210W	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1210					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTGCCCAGCCGGCTTTTAGGT	0.542																																					p.R1210W		Atlas-SNP	.											.	GPR125	118	.	0			c.C3628T						PASS	.						93	86	89					4																	22389666		2203	4300	6503	SO:0001583	missense	166647	exon19			CCAGCCGGCTTTT	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3628C>T	4.37:g.22389666G>A	ENSP00000334952:p.Arg1210Trp	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	196	88	0.44898	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065055	0.36470	.	.	ENSG00000152990	ENST00000334304	T	0.54675	0.56	5.9	5.05	0.67936	.	0.057434	0.64402	D	0.000002	T	0.65678	0.2714	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.69142	0.962;0.609	T	0.64884	-0.6302	10	0.39692	T	0.17	-0.8166	11.9432	0.52913	0.0:0.132:0.7307:0.1373	.	1067;1210	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	W	1210	ENSP00000334952:R1210W	ENSP00000334952:R1210W	R	-	1	2	GPR125	21998764	1.000000	0.71417	0.037000	0.18230	0.260000	0.26232	6.194000	0.72082	1.471000	0.48121	0.650000	0.86243	CGG	.	.	none		0.542	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			A	22389666	G	A	22389666	3	1	29	1	0	0	0	0	1	0	0	0	6639	1115	39	1	341	1	GPR125	4	22389666	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		22389666	168764610	41	22395										
CCDC109B	55013	hgsc.bcm.edu	37	chr4	110605694	110605699	+	In_Frame_Del	DEL	CTGGCT	CTGGCT	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	attcagggtggggcactggcCtggctcacgtggtgggtgta							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	CTGGCT	CTGGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:110605694_110605699delCTGGCT	ENST00000394650.4	+	6	841_846	c.708_713delCTGGCT	c.(706-714)gcctggctc>gcc	p.WL237del		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	237					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GGGCACTGGCCTGGCTCACGTGGTGG	0.49																																					p.236_238del		Pindel,Atlas-Indel	.											.	CCDC109B	47	.	0			c.707_712del						PASS	.																																			SO:0001651	inframe_deletion	55013	exon6			.	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.708_713delCTGGCT	4.37:g.110605694_110605699delCTGGCT	ENSP00000378145:p.Trp237_Leu238del	Somatic	228	.	.		WXS	Illumina HiSeq	Phase_I	203	43	0.212	NM_017918	A8K4Y3|Q6IAC1	In_Frame_Del	DEL	ENST00000394650.4	37	CCDS3683.2																																																																																			.	.	none		0.49	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		-	110605699	CTGGCT	-	110605694	7	5	29	1	0	1	0	1	0	0	0	0	2745	668	24	0	730	0	CCDC109B	4	110605694	In_Frame_Del	DEL	CTGGCT	TCGA-GS-A9TT-01A-11D-A382-10	88216028	110605694	80548582	42	22396										
ENPEP	2028	hgsc.bcm.edu	37	chr4	111398089	111398089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gagtacgtggtggtcgaggcGgaggaagagcttacccccag	17	9	0	1	rs373421438		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:111398089G>A	ENST00000265162.5	+	1	861	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	173					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TGGTCGAGGCGGAGGAAGAGC	0.597																																					p.A173A		Atlas-SNP	.											.	ENPEP	149	.	0			c.G519A						PASS	.						82	91	88					4																	111398089		2203	4300	6503	SO:0001819	synonymous_variant	2028	exon1			CGAGGCGGAGGAA	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.519G>A	4.37:g.111398089G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	58	26	0.448276	NM_001977	Q504U2	Silent	SNP	ENST00000265162.5	37	CCDS3691.1																																																																																			.	.	alt		0.597	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111398089	G	A	111398089	2	1	29	1	0	0	0	0	0	0	0	1	5128	1103	39	1		1	ENPEP	4	111398089	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	792395	111398089	79756187	43	22397										
FAT4	79633	hgsc.bcm.edu	37	chr4	126241904	126241904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atttcagtgactgcacatgaCcctgatgcagacattaatgg	9	9	1	4			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:126241904C>G	ENST00000394329.3	+	1	4351	c.4338C>G	c.(4336-4338)gaC>gaG	p.D1446E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1446	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCACATGACCCTGATGCAG	0.398																																					p.D1446E		Atlas-SNP	.											.	FAT4	1752	.	0			c.C4338G						PASS	.						147	135	139					4																	126241904		1910	4138	6048	SO:0001583	missense	79633	exon1			ACATGACCCTGAT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4338C>G	4.37:g.126241904C>G	ENSP00000377862:p.Asp1446Glu	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	96	45	0.46875	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949004	0.53186	.	.	ENSG00000196159	ENST00000394329	T	0.73897	-0.79	4.8	1.91	0.25777	Cadherin (4);Cadherin-like (1);	0.000000	0.35585	U	0.003110	D	0.88175	0.6366	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85987	0.1486	10	0.87932	D	0	.	7.2653	0.26226	0.0:0.3824:0.0:0.6176	.	1446	Q6V0I7	FAT4_HUMAN	E	1446	ENSP00000377862:D1446E	ENSP00000377862:D1446E	D	+	3	2	FAT4	126461354	1.000000	0.71417	0.953000	0.39169	0.801000	0.45260	1.008000	0.29872	0.169000	0.19679	0.655000	0.94253	GAC	.	.	none		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126241904	C	G	126241904	3	3	29	1	0	0	0	0	1	0	0	0	5692	506	18	4	4340	4	FAT4	4	126241904	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	14843815	126241904	64912372	44	22398										
FAM198B	51313	hgsc.bcm.edu	37	chr4	159092159	159092159	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgcgcttgggcttcacggtGccacggatattggccggctt	14	12	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:159092159G>T	ENST00000296530.8	-	2	990	c.369C>A	c.(367-369)ggC>ggA	p.G123G	RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.G123G|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Silent_p.G123G|FAM198B_ENST00000585682.1_Silent_p.G123G|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	123						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCTTCACGGTGCCACGGATAT	0.622																																					p.G123G		Atlas-SNP	.											.	FAM198B	134	.	0			c.C369A						PASS	.						84	80	81					4																	159092159		2203	4300	6503	SO:0001819	synonymous_variant	51313	exon2			CACGGTGCCACGG		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.369C>A	4.37:g.159092159G>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	63	23	0.365079	NM_016613	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																			.	.	none		0.622	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		T	159092159	G	T	159092159	2	4	29	1	0	0	0	0	0	0	0	1	5529	1306	46	4		4	FAM198B	4	159092159	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	32850255	159092159	32062117	45	22399										
F11	2160	hgsc.bcm.edu	37	chr4	187194287	187194287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aagagtgaataggacagcagCgatttctgggtattctttca	11	6	3	2	rs367856671		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr4:187194287C>T	ENST00000403665.2	+	4	633	c.281C>T	c.(280-282)gCg>gTg	p.A94V	F11_ENST00000492972.2_Missense_Mutation_p.A94V|F11_ENST00000264692.4_Missense_Mutation_p.A94V	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	94	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGGACAGCAGCGATTTCTGGG	0.368																																					p.A94V		Atlas-SNP	.											.	F11	65	.	0			c.C281T						PASS	.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96	90	92		281	5.4	1	4		92	0,8600		0,0,4300	no	missense	F11	NM_000128.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	94/626	187194287	1,13005	2203	4300	6503	SO:0001583	missense	2160	exon4			CAGCAGCGATTTC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.281C>T	4.37:g.187194287C>T	ENSP00000384957:p.Ala94Val	Somatic	334	1	0.00299401		WXS	Illumina HiSeq	Phase_I	221	84	0.380091	NM_000128	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765645	0.90020	2.27E-4	0.0	ENSG00000088926	ENST00000403665;ENST00000264692;ENST00000492972	D;D;D	0.89196	-2.48;-2.48;-2.48	5.45	5.45	0.79879	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	M	0.76574	2.34	0.50467	D	0.999877	D	0.89917	1.0	D	0.97110	1.0	D	0.94070	0.7334	10	0.52906	T	0.07	.	17.8567	0.88765	0.0:1.0:0.0:0.0	.	94	P03951	FA11_HUMAN	V	94	ENSP00000384957:A94V;ENSP00000264692:A94V;ENSP00000424479:A94V	ENSP00000264692:A94V	A	+	2	0	F11	187431281	0.983000	0.35010	0.962000	0.40283	0.969000	0.65631	2.603000	0.46266	2.565000	0.86533	0.557000	0.71058	GCG	.	.	weak		0.368	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			T	187194287	C	T	187194287	3	4	29	1	0	0	0	0	1	0	0	0	5337	768	27	1	291	1	F11	4	187194287	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	28102128	187194287	3959989	46	22400										
SEMA5A	9037	hgsc.bcm.edu	37	chr5	9119196	9119196	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgctgccgcacctggaagccGatcccacaggtagtgctgca	12	15	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:9119196G>A	ENST00000382496.5	-	15	2504	c.1839C>T	c.(1837-1839)atC>atT	p.I613I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	613	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTGGAAGCCGATCCCACAGG	0.657																																					p.I613I		Atlas-SNP	.											.	SEMA5A	236	.	0			c.C1839T						PASS	.						52	47	48					5																	9119196		2203	4300	6503	SO:0001819	synonymous_variant	9037	exon15			GAAGCCGATCCCA	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1839C>T	5.37:g.9119196G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	90	34	0.377778	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			.	.	none		0.657	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9119196	G	A	9119196	2	1	29	1	0	0	0	0	0	0	0	1	14037	1048	37	1		1	SEMA5A	5	9119196	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		9119196	171796064	47	22401										
ROPN1L	83853	hgsc.bcm.edu	37	chr5	10465050	10465050	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	attgaaaactctgaagatgtAggccattaatacagagaaga	9	5	1	5			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:10465050A>C	ENST00000503804.1	+	6	1205	c.684A>C	c.(682-684)gtA>gtC	p.V228V	ROPN1L_ENST00000274134.4_Silent_p.V228V|ROPN1L_ENST00000510520.1_Intron			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	228					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CTGAAGATGTAGGCCATTAAT	0.363																																					p.V228V		Atlas-SNP	.											.	ROPN1L	33	.	0			c.A684C						PASS	.						66	74	71					5																	10465050		2203	4299	6502	SO:0001819	synonymous_variant	83853	exon5			AGATGTAGGCCAT	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"radial spoke head 11 homolog (Chlamydomonas)"	611756	"ropporin 1-like"			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.684A>C	5.37:g.10465050A>C		Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	296	132	0.445946	NM_031916	D3DTC9|Q9BZX0	Silent	SNP	ENST00000503804.1	37	CCDS3879.1																																																																																			.	.	none		0.363	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		C	10465050	A	C	10465050	2	2	29	1	0	0	0	0	0	0	0	1	13525	407	15	5		5	ROPN1L	5	10465050	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	1345854	10465050	170450210	48	22402										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23527377	23527377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgtctgcagggagtgtgggcGgggctttagcaataagtcac	16	7	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:23527377G>A	ENST00000296682.3	+	11	2362	c.2180G>A	c.(2179-2181)cGg>cAg	p.R727Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	727					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGC	0.597										HNSCC(3;0.000094)																											p.R727Q		Atlas-SNP	.											PRDM9,colon,carcinoma,+1,1	PRDM9	344	1	0			c.G2180A						PASS	.						20	22	21					5																	23527377		2038	4098	6136	SO:0001583	missense	56979	exon11			GTGGGCGGGGCTT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2180G>A	5.37:g.23527377G>A	ENSP00000296682:p.Arg727Gln	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	127	41	0.322835	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	3.932	-0.015891	0.07681	.	.	ENSG00000164256	ENST00000296682	T	0.18960	2.18	2.88	0.835	0.18886	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	L	0.31157	0.91	0.09310	N	0.999999	P	0.38395	0.629	B	0.32805	0.153	T	0.17048	-1.0382	9	0.52906	T	0.07	.	5.2268	0.15399	0.4789:0.0:0.5211:0.0	.	727	Q9NQV7	PRDM9_HUMAN	Q	727	ENSP00000296682:R727Q	ENSP00000296682:R727Q	R	+	2	0	PRDM9	23563134	0.001000	0.12720	0.609000	0.28983	0.002000	0.02628	0.105000	0.15333	0.186000	0.20125	-0.378000	0.06908	CGG	.	.	none		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527377	G	A	23527377	3	1	29	1	0	0	0	0	1	0	0	0	12463	1116	39	1	2218	1	PRDM9	5	23527377	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	13062327	23527377	157387883	49	22403										
RNF180	285671	hgsc.bcm.edu	37	chr5	63626166	63626166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tatttgaaaataaaacaaagCtttcagaaatccaactctgc	4	8	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:63626166C>T	ENST00000389100.4	+	7	1584	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	504					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TAAAACAAAGCTTTCAGAAAT	0.313																																					p.S504S		Atlas-SNP	.											.	RNF180	94	.	0			c.C1512T						PASS	.						52	47	48					5																	63626166		692	1591	2283	SO:0001819	synonymous_variant	285671	exon7			ACAAAGCTTTCAG	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1512C>T	5.37:g.63626166C>T		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	258	105	0.406977	NM_001113561	Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	ENST00000389100.4	37	CCDS47219.1																																																																																			.	.	none		0.313	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		T	63626166	C	T	63626166	2	4	29	1	0	0	0	0	0	0	0	1	13464	796	28	2		2	RNF180	5	63626166	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	40098789	63626166	117289094	50	22404										
SPATA9	83890	hgsc.bcm.edu	37	chr5	94994492	94994492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcaccttcagcaaacataggCtccgaaagcacaggctcaga	8	13	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:94994492C>T	ENST00000274432.8	-	5	741	c.600G>A	c.(598-600)gaG>gaA	p.E200E	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	200					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAAACATAGGCTCCGAAAGCA	0.418																																					p.E200E		Atlas-SNP	.											.	SPATA9	17	.	0			c.G600A						PASS	.						112	104	107					5																	94994492		2203	4299	6502	SO:0001819	synonymous_variant	83890	exon5			CATAGGCTCCGAA	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.600G>A	5.37:g.94994492C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	207	91	0.439614	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	37	CCDS4076.1																																																																																			.	.	none		0.418	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		T	94994492	C	T	94994492	2	4	29	1	0	0	0	0	0	0	0	1	15015	796	28	2		2	SPATA9	5	94994492	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	31368326	94994492	85920768	51	22405										
ZNF608	57507	hgsc.bcm.edu	37	chr5	124079845	124079845	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctcttccttctttaccaacaTagagtttcccatgagccctg	5	14	2	2	rs371493737		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:124079845T>A	ENST00000306315.5	-	1	1273	c.838A>T	c.(838-840)Atg>Ttg	p.M280L	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	280							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTACCAACATAGAGTTTCCC	0.557																																					p.M280L		Atlas-SNP	.											.	ZNF608	117	.	0			c.A838T						PASS	.						138	144	142					5																	124079845		2105	4156	6261	SO:0001583	missense	57507	exon1			CCAACATAGAGTT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.838A>T	5.37:g.124079845T>A	ENSP00000307746:p.Met280Leu	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	4.006	-0.001568	0.07819	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.37584	1.19	5.08	-3.65	0.04502	.	0.561470	0.17591	N	0.168770	T	0.12135	0.0295	N	0.08118	0	0.24410	N	0.994665	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.02654	T	1	-3.1328	8.444	0.32830	0.1156:0.484:0.0:0.4004	.	280	Q9ULD9	ZN608_HUMAN	L	280	ENSP00000307746:M280L	ENSP00000307746:M280L	M	-	1	0	ZNF608	124107744	0.976000	0.34144	0.948000	0.38648	0.992000	0.81027	0.083000	0.14871	-0.868000	0.04058	-0.254000	0.11334	ATG	.	.	alt		0.557	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	124079845	T	A	124079845	3	1	29	1	0	0	0	0	1	0	0	0	18031	1406	49	5	3736	5	ZNF608	5	124079845	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	29085353	124079845	56835415	52	22406										
PCDHA11	56138	hgsc.bcm.edu	37	chr5	140249903	140249903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	accttcaagaattactactcGttggtgctggacagcgccct	9	12	1	1	rs372041974		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:140249903G>A	ENST00000398640.2	+	1	1215	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.617																																					p.S405S		Atlas-SNP	.											.	PCDHA11	209	.	0			c.G1215A						PASS	.	G	,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	156	146	149		,,1215,,,,,,,,,,,,1215	-11.4	0	5		149	0,8600		0,0,4300	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,,,,,,,	,,405/950,,,,,,,,,,,,405/811	140249903	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56138	exon1			CTACTCGTTGGTG	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1215G>A	5.37:g.140249903G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	140	60	0.428571	NM_018902	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																			.	.	weak		0.617	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140249903	G	A	140249903	2	1	29	1	0	0	0	0	0	0	0	1	11521	1132	40	1		1	PCDHA11	5	140249903	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	16170058	140249903	40665357	53	22407										
PCDH1	5097	hgsc.bcm.edu	37	chr5	141244191	141244191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccgctgttcccgatccagagAtgtcttcacctggatctctc	8	15	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:141244191A>T	ENST00000394536.3	-	3	1844	c.1705T>A	c.(1705-1707)Tct>Act	p.S569T	PCDH1_ENST00000287008.3_Missense_Mutation_p.S569T|PCDH1_ENST00000536585.1_Missense_Mutation_p.S547T|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.S557T|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	569	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CGATCCAGAGATGTCTTCACC	0.577																																					p.S569T	Ovarian(132;1609 1739 4190 14731 45037)	Atlas-SNP	.											.	PCDH1	119	.	0			c.T1705A						PASS	.						54	45	49					5																	141244191		2203	4300	6503	SO:0001583	missense	5097	exon3			CCAGAGATGTCTT	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1705T>A	5.37:g.141244191A>T	ENSP00000378043:p.Ser569Thr	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	41	0.640625	NM_032420	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	a	8.695	0.908454	0.17833	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.290510	0.24988	N	0.034015	T	0.30916	0.0780	N	0.17594	0.5	0.29962	N	0.819276	B;B	0.29085	0.232;0.115	B;B	0.29524	0.103;0.062	T	0.26258	-1.0108	10	0.29301	T	0.29	.	10.1435	0.42749	0.8323:0.1677:0.0:0.0	.	569;569	Q08174;Q08174-2	PCDH1_HUMAN;.	T	569;569;557;580;547	ENSP00000287008:S569T;ENSP00000378043:S569T;ENSP00000403497:S557T;ENSP00000350122:S580T;ENSP00000438825:S547T	ENSP00000287008:S569T	S	-	1	0	PCDH1	141224375	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.850000	0.62889	2.212000	0.71576	0.454000	0.30748	TCT	.	.	none		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		T	141244191	A	T	141244191	3	4	29	1	0	0	0	0	1	0	0	0	11506	333	12	5	2104	5	PCDH1	5	141244191	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	994288	141244191	39671069	54	22408										
FAT2	2196	hgsc.bcm.edu	37	chr5	150922299	150922299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cttatatggatcagcctcaaAtacaggcctattgtcattga	7	9	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr5:150922299A>G	ENST00000261800.5	-	9	8401	c.8389T>C	c.(8389-8391)Ttt>Ctt	p.F2797L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2797	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGCCTCAAATACAGGCCTA	0.488																																					p.F2797L		Atlas-SNP	.											.	FAT2	465	.	0			c.T8389C						PASS	.						152	141	145					5																	150922299		2203	4300	6503	SO:0001583	missense	2196	exon9			CCTCAAATACAGG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8389T>C	5.37:g.150922299A>G	ENSP00000261800:p.Phe2797Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	98	52	0.530612	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499120	0.64298	.	.	ENSG00000086570	ENST00000261800	T	0.51325	0.71	5.79	5.79	0.91817	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.67401	0.2889	M	0.67625	2.065	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.69224	-0.5201	10	0.56958	D	0.05	.	16.1296	0.81418	1.0:0.0:0.0:0.0	.	2797	Q9NYQ8	FAT2_HUMAN	L	2797	ENSP00000261800:F2797L	ENSP00000261800:F2797L	F	-	1	0	FAT2	150902492	1.000000	0.71417	0.939000	0.37840	0.888000	0.51559	9.262000	0.95591	2.216000	0.71823	0.379000	0.24179	TTT	.	.	none		0.488	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150922299	A	G	150922299	3	3	29	1	0	0	0	0	1	0	0	0	5690	101	4	2	4720	2	FAT2	5	150922299	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	9678108	150922299	29992961	55	22409										
NUP153	9972	hgsc.bcm.edu	37	chr6	17629629	17629629	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cagaatcggatgacacacctAttttgaatcctccctgatct	6	12	1	4	rs141169660	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:17629629A>C	ENST00000262077.2	-	18	2800	c.2801T>G	c.(2800-2802)aTa>aGa	p.I934R	NUP153_ENST00000537253.1_Missense_Mutation_p.I965R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	934					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGACACACCTATTTTGAATCC	0.373																																					p.I934R		Atlas-SNP	.											.	NUP153	116	.	0			c.T2801G						PASS	.						74	81	79					6																	17629629		2203	4300	6503	SO:0001583	missense	9972	exon18			ACACCTATTTTGA	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2801T>G	6.37:g.17629629A>C	ENSP00000262077:p.Ile934Arg	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	125	55	0.44	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698550	0.30142	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07114	3.23;3.22	5.73	0.639	0.17747	.	0.539300	0.16784	N	0.199661	T	0.02688	0.0081	L	0.36672	1.1	0.32725	N	0.509803	P;B;B	0.43519	0.809;0.29;0.421	P;B;B	0.45232	0.474;0.095;0.095	T	0.47381	-0.9122	10	0.16896	T	0.51	-0.2277	8.855	0.35223	0.7261:0.0:0.2739:0.0	.	965;914;934	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	R	934;914;965	ENSP00000262077:I934R;ENSP00000444029:I965R	ENSP00000262077:I934R	I	-	2	0	NUP153	17737608	1.000000	0.71417	0.412000	0.26496	0.483000	0.33249	3.701000	0.54793	-0.044000	0.13491	-0.912000	0.02778	ATA	A|0.999;G|0.001	.	alt		0.373	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			C	17629629	A	C	17629629	3	2	29	1	0	0	0	0	1	0	0	0	10755	449	16	5	1646	5	NUP153	6	17629629	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10		17629629	153485438	56	22410										
HIST1H2BD	3017	hgsc.bcm.edu	37	chr6	26158724	26158724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cttccgggggagctggccaaGcacgccgtgtcggagggcac	17	13	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:26158724G>A	ENST00000289316.2	+	1	351	c.327G>A	c.(325-327)aaG>aaA	p.K109K	HIST1H2BD_ENST00000377777.4_Silent_p.K109K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	109					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGCTGGCCAAGCACGCCGTGT	0.587																																					p.K109K		Atlas-SNP	.											.	HIST1H2BD	45	.	0			c.G327A						PASS	.						73	80	78					6																	26158724		2203	4300	6503	SO:0001819	synonymous_variant	3017	exon1			GGCCAAGCACGCC	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.327G>A	6.37:g.26158724G>A		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	110	48	0.436364	NM_021063		Silent	SNP	ENST00000289316.2	37	CCDS4587.1																																																																																			.	.	none		0.587	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		A	26158724	G	A	26158724	2	1	29	1	0	0	0	0	0	0	0	1	7143	962	34	2		2	HIST1H2BD	6	26158724	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	8529095	26158724	144956343	57	22411										
HIST1H2BJ	8970	hgsc.bcm.edu	37	chr6	27100220	27100220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtgcttggccaactccccagGcagcagcaggcgcacggccg	14	16	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:27100220G>T	ENST00000607124.1	-	1	309	c.310C>A	c.(310-312)Cct>Act	p.P104T	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P104T|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P104T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	104					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AACTCCCCAGGCAGCAGCAGG	0.602																																					p.P104T		Atlas-SNP	.											.	HIST1H2BJ	21	.	0			c.C310A						PASS	.						80	82	82					6																	27100220		2203	4300	6503	SO:0001583	missense	8970	exon1			CCCCAGGCAGCAG	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.310C>A	6.37:g.27100220G>T	ENSP00000476136:p.Pro104Thr	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	55	28	0.509091	NM_021058	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145750	0.57044	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.60672	0.17;0.17	4.06	4.06	0.47325	Histone-fold (2);	0.000000	0.43747	U	0.000526	T	0.80696	0.4672	H	0.97077	3.935	0.53688	D	0.999973	D	0.89917	1.0	D	0.79108	0.992	D	0.87167	0.2218	10	0.87932	D	0	.	14.5496	0.68057	0.0:0.0:1.0:0.0	.	104	P06899	H2B1J_HUMAN	T	104	ENSP00000445633:P104T;ENSP00000342886:P104T	ENSP00000342886:P104T	P	-	1	0	HIST1H2BJ	27208199	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	6.815000	0.75242	2.210000	0.71456	0.585000	0.79938	CCT	.	.	none		0.602	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		T	27100220	G	T	27100220	3	4	29	1	0	0	0	0	1	0	0	0	7149	1203	42	4	74	4	HIST1H2BJ	6	27100220	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	941496	27100220	144014847	58	22412										
HIST1H2AM	8336	hgsc.bcm.edu	37	chr6	27860549	27860549	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cagcccttacttgcccttagCtttgtggtggctctcagtct	9	13	2	0	rs191325870		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:27860549C>G	ENST00000359611.2	-	1	414	c.379G>C	c.(379-381)Gct>Cct	p.A127P	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	127						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TTGCCCTTAGCTTTGTGGTGG	0.483																																					p.A127P		Atlas-SNP	.											.	HIST1H2AM	27	.	0			c.G379C						PASS	.						121	117	118					6																	27860549		2203	4300	6503	SO:0001583	missense	8336	exon1			CCTTAGCTTTGTG	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.379G>C	6.37:g.27860549C>G	ENSP00000352627:p.Ala127Pro	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	194	92	0.474227	NM_003514	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	9.216	1.032045	0.19590	.	.	ENSG00000233224	ENST00000359611	T	0.44083	0.93	4.15	4.15	0.48705	.	0.000000	0.30068	U	0.010482	T	0.33059	0.0850	L	0.34521	1.04	0.34490	D	0.70489	.	.	.	.	.	.	T	0.16482	-1.0401	8	0.44086	T	0.13	.	16.2401	0.82402	0.0:1.0:0.0:0.0	.	.	.	.	P	127	ENSP00000352627:A127P	ENSP00000352627:A127P	A	-	1	0	HIST1H2AM	27968528	0.991000	0.36638	1.000000	0.80357	0.272000	0.26649	3.089000	0.50183	2.601000	0.87937	0.655000	0.94253	GCT	C|1.000;T|0.000	.	alt		0.483	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		G	27860549	C	G	27860549	3	3	29	1	0	0	0	0	1	0	0	0	7139	797	28	4	17	4	HIST1H2AM	6	27860549	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	760329	27860549	143254518	59	22413										
HSPA1L	3305	hgsc.bcm.edu	37	chr6	31778920	31778920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggttggcctgggtgctggacGacagggtcctcttggccctc	16	12	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:31778920G>A	ENST00000375654.4	-	2	1019	c.830C>T	c.(829-831)tCg>tTg	p.S277L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.S277L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	277					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGCTGGACGACAGGGTCCT	0.527																																					p.S277L		Atlas-SNP	.											.	HSPA1L	185	.	0			c.C830T						PASS	.						65	72	70					6																	31778920		2203	4300	6503	SO:0001583	missense	3305	exon2			CTGGACGACAGGG	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.830C>T	6.37:g.31778920G>A	ENSP00000364805:p.Ser277Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	133	61	0.458647	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408085	0.83340	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.02525	4.26;4.26	5.4	5.4	0.78164	.	0.000000	0.30575	N	0.009335	T	0.29223	0.0727	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60717	-0.7208	10	0.87932	D	0	-13.5603	16.7131	0.85391	0.0:0.0:1.0:0.0	.	277	P34931	HS71L_HUMAN	L	277;277;222;167	ENSP00000364805:S277L;ENSP00000387691:S277L	ENSP00000364804:S222L	S	-	2	0	HSPA1L	31886899	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	5.202000	0.65169	2.810000	0.96702	0.585000	0.79938	TCG	.	.	none		0.527	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			A	31778920	G	A	31778920	3	1	29	1	0	0	0	0	1	0	0	0	7410	1059	37	1	1099	1	HSPA1L	6	31778920	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	3918371	31778920	139336147	60	22414										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138563	37138563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcctaggcaaggagaaggagCccctggagtcgcagtaccag	14	11	0	1	rs34095970		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138563C>T	ENST00000373509.5	+	2	470	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	124					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGAGAAGGAGCCCCTGGAGTC	0.701			T	BCL6	NHL																																p.P124S		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C370T						PASS	.						21	31	28					6																	37138563		2155	4262	6417	SO:0001583	missense	5292	exon2			AAGGAGCCCCTGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.97C>T	6.37:g.37138563C>T	ENSP00000362608:p.Pro33Ser	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	19	0.463415	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997735	0.35226	.	.	ENSG00000137193	ENST00000373509	T	0.69040	-0.37	4.64	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.21267	0.0512	N	0.08118	0	0.48901	D	0.999723	B	0.12013	0.005	B	0.06405	0.002	T	0.22836	-1.0205	10	0.02654	T	1	.	12.1438	0.54012	0.0:0.9152:0.0:0.0848	.	124	P11309	PIM1_HUMAN	S	33	ENSP00000362608:P33S	ENSP00000362608:P33S	P	+	1	0	PIM1	37246541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.980000	0.40618	2.294000	0.77228	0.549000	0.68633	CCC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138563	C	T	37138563	3	4	29	1	0	0	0	0	1	0	0	0	11927	739	26	2	103	2	PIM1	6	37138563	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	5359643	37138563	133976504	61	22415			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37138577	37138577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aaggagcccctggagtcgcaGtaccaggtgggcccgctact	14	13	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138577G>T	ENST00000373509.5	+	2	484	c.111G>T	c.(109-111)caG>caT	p.Q37H		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	128					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.Q37H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGAGTCGCAGTACCAGGTGG	0.706			T	BCL6	NHL																																p.Q128H		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,2	PIM1	71	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.G384T						PASS	.						22	32	28					6																	37138577		2167	4268	6435	SO:0001583	missense	5292	exon2			GTCGCAGTACCAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.111G>T	6.37:g.37138577G>T	ENSP00000362608:p.Gln37His	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	41	18	0.439024	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866670	0.32977	.	.	ENSG00000137193	ENST00000373509	T	0.13901	2.55	4.64	0.515	0.17013	Protein kinase-like domain (1);	0.470425	0.18904	N	0.127947	T	0.01695	0.0054	N	0.08118	0	0.29021	N	0.886284	B	0.09022	0.002	B	0.04013	0.001	T	0.45056	-0.9287	10	0.41790	T	0.15	.	5.1594	0.15053	0.3201:0.2369:0.443:0.0	.	128	P11309	PIM1_HUMAN	H	37	ENSP00000362608:Q37H	ENSP00000362608:Q37H	Q	+	3	2	PIM1	37246555	0.171000	0.23029	0.997000	0.53966	0.994000	0.84299	-0.639000	0.05446	0.154000	0.19237	0.549000	0.68633	CAG	.	.	none		0.706	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138577	G	T	37138577	3	4	29	1	0	0	0	0	1	0	0	0	11927	1020	36	4	117	4	PIM1	6	37138577	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	14	37138577	133976490	62	22416			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37138591	37138591	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtcgcagtaccaggtgggccCgctactgggcagcggcggct							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138591C>T	ENST00000373509.5	+	2	498	c.125C>T	c.(124-126)cCg>cTg	p.P42L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	133					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGGTGGGCCCGCTACTGGGC	0.721			T	BCL6	NHL																																p.P133L		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C398T						PASS	.						21	32	28					6																	37138591		2169	4265	6434	SO:0001583	missense	5292	exon2			TGGGCCCGCTACT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.125C>T	6.37:g.37138591C>T	ENSP00000362608:p.Pro42Leu	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	53	23	0.433962	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544320	0.65198	.	.	ENSG00000137193	ENST00000373509	T	0.13778	2.56	4.96	3.06	0.35304	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.260132	0.31415	N	0.007693	T	0.04407	0.0121	N	0.24115	0.695	0.49051	D	0.99974	P	0.37955	0.612	B	0.37422	0.249	T	0.29701	-1.0003	10	0.72032	D	0.01	.	10.5527	0.45099	0.0:0.7869:0.1356:0.0775	.	133	P11309	PIM1_HUMAN	L	42	ENSP00000362608:P42L	ENSP00000362608:P42L	P	+	2	0	PIM1	37246569	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	5.339000	0.65953	1.157000	0.42530	0.549000	0.68633	CCG	.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138591	C	T	37138591	3	4	29	1	0	0	0	0	1	0	0	0	11927	652	23	1	131	1	PIM1	6	37138591	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	14	37138591	133976476	63	22417	451	2	2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37138592	37138592	+	Silent	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcgcagtaccaggtgggcccGctactgggcagcggcggctt							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138592G>A	ENST00000373509.5	+	2	499	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	133					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGGTGGGCCCGCTACTGGGCA	0.721			T	BCL6	NHL																																p.P133P		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G399A						PASS	.						21	32	28					6																	37138592		2169	4267	6436	SO:0001819	synonymous_variant	5292	exon2			GGGCCCGCTACTG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.126G>A	6.37:g.37138592G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	24	0.444444	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138592	G	A	37138592	2	1	29	1	0	0	0	0	0	0	0	1	11927	1074	38	1		1	PIM1	6	37138592	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1	37138592	133976475	64	22418	451	2	2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37138804	37138804	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cggatttccgactggggagaGctggtgagtgccctgcagga	17	9	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138804G>C	ENST00000373509.5	+	3	610	c.237G>C	c.(235-237)gaG>gaC	p.E79D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	170					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.E79D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACTGGGGAGAGCTGGTGAGTG	0.687			T	BCL6	NHL																																p.E170D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,4	PIM1	71	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G510C						PASS	.						51	53	52					6																	37138804		2203	4300	6503	SO:0001583	missense	5292	exon3			GGGAGAGCTGGTG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.237G>C	6.37:g.37138804G>C	ENSP00000362608:p.Glu79Asp	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	68	33	0.485294	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939366	0.34189	.	.	ENSG00000137193	ENST00000373509	T	0.66280	-0.2	4.44	0.389	0.16269	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068351	0.56097	D	0.000034	T	0.16938	0.0407	N	0.11023	0.085	0.34210	D	0.674133	B	0.15473	0.013	B	0.14578	0.011	T	0.02345	-1.1173	10	0.37606	T	0.19	.	4.6029	0.12363	0.4591:0.0:0.3935:0.1474	.	170	P11309	PIM1_HUMAN	D	79	ENSP00000362608:E79D	ENSP00000362608:E79D	E	+	3	2	PIM1	37246782	0.728000	0.28080	0.985000	0.45067	0.975000	0.68041	0.054000	0.14205	-0.042000	0.13535	0.549000	0.68633	GAG	.	.	none		0.687	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37138804	G	C	37138804	3	2	29	1	0	0	0	0	1	0	0	0	11927	962	34	4	247	4	PIM1	6	37138804	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	212	37138804	133976263	65	22419			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37138951	37138951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtcctgctgaagaaggtgagCtcgggtttctccggcgtcat	14	10	2	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37138951C>T	ENST00000373509.5	+	4	664	c.291C>T	c.(289-291)agC>agT	p.S97S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	188					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGAAGGTGAGCTCGGGTTTCT	0.647			T	BCL6	NHL																																p.S188S		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,+1,5	PIM1	71	5	0			c.C564T						PASS	.						82	92	89					6																	37138951		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			GGTGAGCTCGGGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.291C>T	6.37:g.37138951C>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	48	24	0.5	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.647	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138951	C	T	37138951	2	4	29	1	0	0	0	0	0	0	0	1	11927	796	28	2		2	PIM1	6	37138951	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	147	37138951	133976116	66	22420			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37139045	37139045	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggcccgagccggtgcaagatCtcttcgacttcatcacggaa	11	13	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37139045C>G	ENST00000373509.5	+	4	758	c.385C>G	c.(385-387)Ctc>Gtc	p.L129V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGTGCAAGATCTCTTCGACTT	0.632			T	BCL6	NHL																																p.L220V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C658G						PASS	.						82	96	91					6																	37139045		2203	4300	6503	SO:0001583	missense	5292	exon4			CAAGATCTCTTCG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.385C>G	6.37:g.37139045C>G	ENSP00000362608:p.Leu129Val	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	76	30	0.394737	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025243	0.75390	.	.	ENSG00000137193	ENST00000373509	T	0.42131	0.98	4.28	4.28	0.50868	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	0.000005	T	0.64316	0.2587	M	0.86864	2.845	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.72597	-0.4245	10	0.87932	D	0	.	16.8746	0.86048	0.0:1.0:0.0:0.0	.	220	P11309	PIM1_HUMAN	V	129	ENSP00000362608:L129V	ENSP00000362608:L129V	L	+	1	0	PIM1	37247023	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.539000	0.67199	2.371000	0.80710	0.549000	0.68633	CTC	.	.	none		0.632	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			G	37139045	C	G	37139045	3	3	29	1	0	0	0	0	1	0	0	0	11927	913	32	4	399	4	PIM1	6	37139045	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	94	37139045	133976022	67	22421			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37139097	37139097	+	Missense_Mutation	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcaagaggagctggcccgcaGcttcttctggcaggtgctgg							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37139097G>A	ENST00000373509.5	+	4	810	c.437G>A	c.(436-438)aGc>aAc	p.S146N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTGGCCCGCAGCTTCTTCTGG	0.612			T	BCL6	NHL																																p.S237N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,carcinoma,+1,3	PIM1	71	3	0			c.G710A						scavenged	.						51	60	57					6																	37139097		2202	4300	6502	SO:0001583	missense	5292	exon4			CCCGCAGCTTCTT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.437G>A	6.37:g.37139097G>A	ENSP00000362608:p.Ser146Asn	Somatic	117	1	0.00854701		WXS	Illumina HiSeq	Phase_I	93	44	0.473118	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567906	0.28003	.	.	ENSG00000137193	ENST00000373509	T	0.65364	-0.15	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.29355	N	0.012392	T	0.28599	0.0708	N	0.20304	0.555	0.31131	N	0.707701	B	0.06786	0.001	B	0.10450	0.005	T	0.05289	-1.0894	10	0.17832	T	0.49	.	15.8069	0.78520	0.0:0.0:1.0:0.0	.	237	P11309	PIM1_HUMAN	N	146	ENSP00000362608:S146N	ENSP00000362608:S146N	S	+	2	0	PIM1	37247075	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.004000	0.57068	2.254000	0.74563	0.448000	0.29417	AGC	.	.	none		0.612	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139097	G	A	37139097	3	1	29	1	0	0	0	0	1	0	0	0	11927	971	34	2	451	2	PIM1	6	37139097	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	52	37139097	133975970	68	22422	452	2	2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37139104	37139104	+	Silent	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gagctggcccgcagcttcttCtggcaggtgctggaggccgt							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37139104C>T	ENST00000373509.5	+	4	817	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCAGCTTCTTCTGGCAGGTGC	0.617			T	BCL6	NHL																																p.F239F		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C717T						PASS	.						47	56	53					6																	37139104		2202	4299	6501	SO:0001819	synonymous_variant	5292	exon4			CTTCTTCTGGCAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.444C>T	6.37:g.37139104C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	95	46	0.484211	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.617	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37139104	C	T	37139104	2	4	29	1	0	0	0	0	0	0	0	1	11927	912	32	2		2	PIM1	6	37139104	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7	37139104	133975963	69	22423	452	2	2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37139128	37139128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caggtgctggaggccgtgcgGcactgccacaactgcggggt	17	12	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37139128G>A	ENST00000373509.5	+	4	841	c.468G>A	c.(466-468)cgG>cgA	p.R156R		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGGCCGTGCGGCACTGCCACA	0.617			T	BCL6	NHL																																p.R247R		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G741A						PASS	.						42	48	46					6																	37139128		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			CGTGCGGCACTGC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.468G>A	6.37:g.37139128G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	98	48	0.489796	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.617	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37139128	G	A	37139128	2	1	29	1	0	0	0	0	0	0	0	1	11927	1190	42	2		2	PIM1	6	37139128	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	24	37139128	133975939	70	22424			2	98		11	9	647	N	G_C	1.024519e-24
PIM1	5292	hgsc.bcm.edu	37	chr6	37139209	37139209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctcaatcgcggcgagctcaaGctcatcgacttcgggtcggg	13	13	3	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:37139209G>C	ENST00000373509.5	+	4	922	c.549G>C	c.(547-549)aaG>aaC	p.K183N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGAGCTCAAGCTCATCGACT	0.647			T	BCL6	NHL																																p.K274N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G822C						PASS	.						31	32	32					6																	37139209		2203	4300	6503	SO:0001583	missense	5292	exon4			GCTCAAGCTCATC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.549G>C	6.37:g.37139209G>C	ENSP00000362608:p.Lys183Asn	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	64	26	0.40625	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735520	0.69189	.	.	ENSG00000137193	ENST00000373509	T	0.22336	1.96	4.36	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062020	0.64402	D	0.000006	T	0.48169	0.1485	H	0.98786	4.33	0.54753	D	0.999984	D	0.69078	0.997	D	0.71414	0.973	T	0.57642	-0.7776	10	0.66056	D	0.02	.	5.5129	0.16890	0.3296:0.0:0.6704:0.0	.	274	P11309	PIM1_HUMAN	N	183	ENSP00000362608:K183N	ENSP00000362608:K183N	K	+	3	2	PIM1	37247187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.356000	0.44116	1.020000	0.39573	0.448000	0.29417	AAG	.	.	none		0.647	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37139209	G	C	37139209	3	2	29	1	0	0	0	0	1	0	0	0	11927	962	34	4	563	4	PIM1	6	37139209	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	81	37139209	133975858	71	22425			2	98		11	9	647	N	G_C	1.024519e-24
COL21A1	81578	hgsc.bcm.edu	37	chr6	55924958	55924958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atacccggggagccatgttgGgacaggcaatgatcacaatt	12	9	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:55924958G>A	ENST00000244728.5	-	28	2863	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	COL21A1_ENST00000535941.1_Silent_p.S822S|COL21A1_ENST00000370819.1_Silent_p.S819S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Intron	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	822					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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCATGTTGGGACAGGCAAT	0.493																																					p.S822S		Atlas-SNP	.											.	COL21A1	201	.	0			c.C2466T						PASS	.						49	48	48					6																	55924958		1846	4088	5934	SO:0001819	synonymous_variant	81578	exon28			ATGTTGGGACAGG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2466C>T	6.37:g.55924958G>A		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	216	102	0.472222	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																			.	.	none		0.493	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	55924958	G	A	55924958	2	1	29	1	0	0	0	0	0	0	0	1	3680	1219	43	2		2	COL21A1	6	55924958	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	18785749	55924958	115190109	72	22426										
COL12A1	1303	hgsc.bcm.edu	37	chr6	75890902	75890902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	taagaagtcacttctgaaaaActaagatcctttggagggac	9	7	2	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:75890902A>C	ENST00000322507.8	-	11	2226	c.1917T>G	c.(1915-1917)agT>agG	p.S639R	COL12A1_ENST00000483888.2_Missense_Mutation_p.S639R|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S639R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	639	Fibronectin type-III 3. {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						CTTCTGAAAAACTAAGATCCT	0.343																																					p.S639R		Atlas-SNP	.											.	COL12A1	385	.	0			c.T1917G						PASS	.						53	54	54					6																	75890902		1854	4083	5937	SO:0001583	missense	1303	exon11			TGAAAAACTAAGA	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.1917T>G	6.37:g.75890902A>C	ENSP00000325146:p.Ser639Arg	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	100	44	0.44	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	4.453	0.083928	0.08583	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57907	0.37;0.37;0.37	5.68	-11.4	0.00090	Fibronectin, type III (4);	0.724585	0.13526	N	0.381263	T	0.06826	0.0174	N	0.11789	0.175	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13953	-1.0490	10	0.16896	T	0.51	.	5.1045	0.14777	0.1741:0.0703:0.443:0.3126	.	639;639	D6RGG3;Q99715	.;COCA1_HUMAN	R	639	ENSP00000325146:S639R;ENSP00000412864:S639R;ENSP00000421216:S639R	ENSP00000325146:S639R	S	-	3	2	COL12A1	75947622	0.000000	0.05858	0.011000	0.14972	0.633000	0.38033	-1.183000	0.03079	-1.983000	0.00987	-0.341000	0.08007	AGT	.	.	none		0.343	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75890902	A	C	75890902	3	2	29	1	0	0	0	0	1	0	0	0	3669	40	2	5	7498	5	COL12A1	6	75890902	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	19965944	75890902	95224165	73	22427										
LIN28B	389421	hgsc.bcm.edu	37	chr6	105526426	105526426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aaatgttgcacagccacccgCgagttctcagggaagacagg	12	11	1	1	rs201716597		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:105526426C>T	ENST00000345080.4	+	4	724	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	174					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CAGCCACCCGCGAGTTCTCAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20262	0.0		0.001	False		,,,				2504	0.0				p.A174V		Atlas-SNP	.											.	LIN28B	17	.	0			c.C521T						PASS	.						91	82	85					6																	105526426		2203	4300	6503	SO:0001583	missense	389421	exon4			CACCCGCGAGTTC	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.521C>T	6.37:g.105526426C>T	ENSP00000344401:p.Ala174Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	34	30	0.882353	NM_001004317	A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	CCDS34504.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.567	0.289449	0.10567	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	3.12	0.35913	.	0.509217	0.22018	N	0.065761	T	0.18841	0.0452	L	0.40543	1.245	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.16276	-1.0408	9	0.31617	T	0.26	2.6381	13.409	0.60931	0.0:0.7984:0.0:0.2016	.	174	Q6ZN17	LN28B_HUMAN	V	174	.	ENSP00000344401:A174V	A	+	2	0	LIN28B	105633119	0.781000	0.28676	0.002000	0.10522	0.165000	0.22458	3.304000	0.51866	0.093000	0.17368	-0.797000	0.03246	GCG	C|1.000;T|0.000	0.000	strong		0.527	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		T	105526426	C	T	105526426	3	4	29	1	0	0	0	0	1	0	0	0	8806	768	27	1	535	1	LIN28B	6	105526426	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	29635524	105526426	65588641	74	22428										
ROS1	6098	hgsc.bcm.edu	37	chr6	117686814	117686814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccgcagggggaccattccacAggatttgaaaacttgaagca	11	10	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:117686814A>G	ENST00000368508.3	-	19	3101	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	ROS1_ENST00000368507.3_Missense_Mutation_p.L963P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	968	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCATTCCACAGGATTTGAAA	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.L968P		Atlas-SNP	.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1	728	.	0			c.T2903C						PASS	.						62	58	59					6																	117686814		2203	4300	6503	SO:0001583	missense	6098	exon19			TTCCACAGGATTT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2903T>C	6.37:g.117686814A>G	ENSP00000357494:p.Leu968Pro	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	83	64	0.771084	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787844	0.31593	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54675	0.56;0.56	4.98	0.875	0.19130	.	0.587883	0.14154	N	0.337834	T	0.19406	0.0466	N	0.19112	0.55	0.80722	D	1	B	0.26258	0.145	B	0.36608	0.229	T	0.12734	-1.0536	10	0.45353	T	0.12	.	3.3358	0.07101	0.5397:0.2614:0.0729:0.126	.	968	P08922	ROS1_HUMAN	P	968;963	ENSP00000357494:L968P;ENSP00000357493:L963P	ENSP00000357493:L963P	L	-	2	0	ROS1	117793507	0.989000	0.36119	0.945000	0.38365	0.870000	0.49936	0.937000	0.28951	-0.027000	0.13873	-0.299000	0.09455	CTG	.	.	none		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			G	117686814	A	G	117686814	3	3	29	1	0	0	0	0	1	0	0	0	13531	188	7	3	4240	3	ROS1	6	117686814	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	12160388	117686814	53428253	75	22429										
UTRN	7402	hgsc.bcm.edu	37	chr6	145148756	145148756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttcttttaaagcccctcacaAtctcctcaactgtttcatga	3	13	5	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr6:145148756A>G	ENST00000367545.3	+	67	9543	c.9543A>G	c.(9541-9543)caA>caG	p.Q3181Q	UTRN_ENST00000367526.4_Silent_p.Q736Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3181					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCCTCACAATCTCCTCAAC	0.368																																					p.Q3181Q		Atlas-SNP	.											.	UTRN	327	.	0			c.A9543G						PASS	.						70	68	69					6																	145148756		2203	4300	6503	SO:0001819	synonymous_variant	7402	exon67			CTCACAATCTCCT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9543A>G	6.37:g.145148756A>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	59	45	0.762712	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	3.934	-0.015659	0.07681	.	.	ENSG00000152818	ENST00000367524	.	.	.	5.78	2.9	0.33743	.	.	.	.	.	T	0.28732	0.0712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17137	-1.0379	4	.	.	.	.	2.5299	0.04700	0.209:0.1277:0.5314:0.1319	.	.	.	.	S	212	.	.	N	+	2	0	UTRN	145190449	1.000000	0.71417	0.995000	0.50966	0.674000	0.39518	1.026000	0.30103	0.337000	0.23665	-0.321000	0.08615	AAT	.	.	none		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	145148756	A	G	145148756	2	3	29	1	0	0	0	0	0	0	0	1	17100	98	4	2		2	UTRN	6	145148756	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	27461942	145148756	25966311	76	22430										
OSBPL3	26031	hgsc.bcm.edu	37	chr7	24843988	24843991	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cttctaagacccgccgccttTctctctgcagttgttcaatc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	TCTC	TCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr7:24843988_24843991delTCTC	ENST00000313367.2	-	22	2961_2964	c.2510_2513delGAGA	c.(2509-2514)agagaafs	p.RE837fs	OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.RE806fs|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.RE806fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.RE770fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.RE801fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.RE801fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.RE770fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	837					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCGCCGCCTTTCTCTCTGCAGTTG	0.451																																					p.837_838del		Pindel,Atlas-Indel	.											.	OSBPL3	100	.	0			c.2511_2514del						PASS	.																																			SO:0001589	frameshift_variant	26031	exon22			.	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2510_2513delGAGA	7.37:g.24843988_24843991delTCTC	ENSP00000315410:p.Arg837fs	Somatic	266	.	.		WXS	Illumina HiSeq	Phase_I	187	62	0.332	NM_015550	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	CCDS5390.1																																																																																			.	.	none		0.451	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			-	24843991	TCTC	-	24843988	7	5	29	1	0	1	0	1	0	0	0	0	11279	1783	62	0	158	0	OSBPL3	7	24843988	Frame_Shift_Del	DEL	TCTC	TCGA-GS-A9TT-01A-11D-A382-10		24843988	134294675	77	22431										
MAGI2	9863	hgsc.bcm.edu	37	chr7	79082451	79082451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	acctccagcagcagctcctcCgacaccaatttgctgccgct	7	18	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr7:79082451C>T	ENST00000354212.4	-	1	439	c.186G>A	c.(184-186)tcG>tcA	p.S62S	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000419488.1_Silent_p.S62S|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2_ENST00000522391.1_Silent_p.S62S|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCAGCTCCTCCGACACCAATT	0.637																																					p.S62S		Atlas-SNP	.											MAGI2,caecum,carcinoma,0,1	MAGI2	246	1	0			c.G186A						PASS	.						54	59	57					7																	79082451		2203	4300	6503	SO:0001819	synonymous_variant	9863	exon1			CTCCTCCGACACC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.186G>A	7.37:g.79082451C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	45	20	0.444444	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																			.	.	none		0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	79082451	C	T	79082451	2	4	29	1	0	0	0	0	0	0	0	1	9191	639	23	1		1	MAGI2	7	79082451	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	54238463	79082451	80056212	78	22432										
PTPRZ1	5803	hgsc.bcm.edu	37	chr7	121652288	121652288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tccttctttcaatgagatggTttacccttctgaaagcacag	7	10	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr7:121652288T>G	ENST00000393386.2	+	12	3599	c.3188T>G	c.(3187-3189)gTt>gGt	p.V1063G	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1063					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATGAGATGGTTTACCCTTCT	0.358																																					p.V1063G		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.T3188G						PASS	.						111	114	113					7																	121652288		2203	4300	6503	SO:0001583	missense	5803	exon12			AGATGGTTTACCC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3188T>G	7.37:g.121652288T>G	ENSP00000377047:p.Val1063Gly	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	109	55	0.504587	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086036	0.20390	.	.	ENSG00000106278	ENST00000393386	T	0.42900	0.96	5.68	-1.26	0.09376	.	0.776615	0.11659	N	0.542035	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10636	-1.0621	10	0.33940	T	0.23	.	6.1933	0.20536	0.0:0.4622:0.2766:0.2612	.	1063	P23471	PTPRZ_HUMAN	G	1063	ENSP00000377047:V1063G	ENSP00000377047:V1063G	V	+	2	0	PTPRZ1	121439524	0.007000	0.16637	0.798000	0.32154	0.983000	0.72400	-0.397000	0.07269	-0.102000	0.12197	-0.299000	0.09455	GTT	.	.	none		0.358	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121652288	T	G	121652288	3	3	29	1	0	0	0	0	1	0	0	0	12814	1725	60	5	3234	5	PTPRZ1	7	121652288	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	42569837	121652288	37486375	79	22433										
OR9A4	130075	hgsc.bcm.edu	37	chr7	141618791	141618791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tttctacttggtgacattaaTgggaaacacagtcatcatca	7	8	4	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr7:141618791T>C	ENST00000548136.1	+	1	175	c.116T>C	c.(115-117)aTg>aCg	p.M39T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTGACATTAATGGGAAACACA	0.443																																					p.M39T		Atlas-SNP	.											.	OR9A4	58	.	0			c.T116C						PASS	.						195	204	201					7																	141618791		2201	4300	6501	SO:0001583	missense	130075	exon1			CATTAATGGGAAA		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.116T>C	7.37:g.141618791T>C	ENSP00000448789:p.Met39Thr	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	195	91	0.466667	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	0.401	-0.918492	0.02396	.	.	ENSG00000258083	ENST00000548136	T	0.00457	7.29	3.88	2.71	0.32032	.	.	.	.	.	T	0.00210	0.0006	N	0.12611	0.24	0.21290	N	0.999731	B	0.06786	0.001	B	0.08055	0.003	T	0.31916	-0.9926	9	0.02654	T	1	-2.566	7.6507	0.28346	0.0:0.1051:0.0:0.8949	.	39	Q8NGU2	OR9A4_HUMAN	T	39	ENSP00000448789:M39T	ENSP00000386148:M39T	M	+	2	0	OR9A4	141265260	0.000000	0.05858	0.974000	0.42286	0.352000	0.29268	0.602000	0.24134	0.652000	0.30806	-0.288000	0.09946	ATG	.	.	none		0.443	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		C	141618791	T	C	141618791	3	2	29	1	0	0	0	0	1	0	0	0	11249	1464	51	2	118	2	OR9A4	7	141618791	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	19966503	141618791	17519872	80	22434										
CUL1	8454	hgsc.bcm.edu	37	chr7	148454103	148454103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agatttgatggatgagagtgTactgaaattctacactcaac	9	6	2	4			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr7:148454103T>C	ENST00000325222.4	+	4	623	c.344T>C	c.(343-345)gTa>gCa	p.V115A	CUL1_ENST00000409469.1_Missense_Mutation_p.V115A|CUL1_ENST00000602748.1_Missense_Mutation_p.V115A	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATGAGAGTGTACTGAAATTC	0.338																																					p.V115A		Atlas-SNP	.											.	CUL1	80	.	0			c.T344C						PASS	.						134	136	135					7																	148454103		2203	4300	6503	SO:0001583	missense	8454	exon4			AGAGTGTACTGAA	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.344T>C	7.37:g.148454103T>C	ENSP00000326804:p.Val115Ala	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	131	48	0.366412	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714714	0.89112	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.30182	1.54;1.54	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	M	0.73598	2.24	0.80722	D	1	P	0.46020	0.871	P	0.51550	0.673	T	0.53401	-0.8444	10	0.72032	D	0.01	-16.5964	14.5335	0.67942	0.0:0.0:0.0:1.0	.	115	Q13616	CUL1_HUMAN	A	115;115;73	ENSP00000387160:V115A;ENSP00000326804:V115A	ENSP00000326804:V115A	V	+	2	0	CUL1	148085036	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.759000	0.85235	1.912000	0.55364	0.528000	0.53228	GTA	.	.	none		0.338	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		C	148454103	T	C	148454103	3	2	29	1	0	0	0	0	1	0	0	0	4054	1638	57	2	354	2	CUL1	7	148454103	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	6835312	148454103	10684560	81	22435										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2964161	2964161	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcactggtacttcacaaaatCtcctagaagagtcaatgcaa	7	10	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr8:2964161C>A	ENST00000520002.1	-	47	7396	c.6841G>T	c.(6841-6843)Gat>Tat	p.D2281Y	CSMD1_ENST00000602557.1_Missense_Mutation_p.D2281Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2280Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2280Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2281Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2281Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2281	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCACAAAATCTCCTAGAAGA	0.468																																					p.D2280Y		Atlas-SNP	.											.	CSMD1	1469	.	0			c.G6838T						PASS	.						45	46	46					8																	2964161		1923	4128	6051	SO:0001583	missense	64478	exon46			CAAAATCTCCTAG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6841G>T	8.37:g.2964161C>A	ENSP00000430733:p.Asp2281Tyr	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	49	20	0.408163	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385605|3.385605	0.61956|0.61956	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Complement control module (2);Sushi/SCR/CCP (3);|.	0.062552|.	0.64402|.	D|.	0.000011|.	D|D	0.87446|0.87446	0.6179|0.6179	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	D|D	0.90900|0.90900	0.4768|0.4768	10|5	0.52906|.	T|.	0.07|.	.|.	18.9876|18.9876	0.92779|0.92779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2281;2281;2280|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Y|I	2281;2281;2142;2280;2280|1760	ENSP00000383047:D2281Y;ENSP00000430733:D2281Y;ENSP00000441462:D2280Y;ENSP00000446243:D2280Y|.	ENSP00000320445:D2142Y|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	2951568|2951568	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.196000|0.196000	0.23810|0.23810	7.113000|7.113000	0.77095|0.77095	2.476000|2.476000	0.83614|0.83614	0.557000|0.557000	0.71058|0.71058	GAT|AGA	.	.	none		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2964161	C	A	2964161	3	1	29	1	0	0	0	0	1	0	0	0	3944	913	32	4	3956	4	CSMD1	8	2964161	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		2964161	143399861	82	22436										
ENTPD4	9583	hgsc.bcm.edu	37	chr8	23290451	23290451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gagctggatcacaaggtcccCggggcattctgggcgggaag	17	10	2	0	rs17089244	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr8:23290451C>T	ENST00000358689.4	-	13	2074	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.P605P|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	613					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACAAGGTCCCCGGGGCATTCT	0.587													C|||	676	0.134984	0.1702	0.0706	5008	,	,		14977	0.123		0.0954	False		,,,				2504	0.1861				p.P613P		Atlas-SNP	.											.	ENTPD4	56	.	0			c.G1839A						PASS	.	C	,	668,3710		57,554,1578	21	24	23		1815,1839	-11.4	0	8	dbSNP_123	23	714,7858		30,654,3602	no	coding-synonymous,coding-synonymous	ENTPD4	NM_001128930.2,NM_004901.4	,	87,1208,5180	TT,TC,CC		8.3294,15.2581,10.6718	,	605/609,613/617	23290451	1382,11568	2189	4286	6475	SO:0001819	synonymous_variant	9583	exon13			GGTCCCCGGGGCA	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1839G>A	8.37:g.23290451C>T		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	34	14	0.411765	NM_004901	D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	CCDS6041.1																																																																																			C|0.877;T|0.123	0.123	strong		0.587	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		T	23290451	C	T	23290451	2	4	29	1	0	0	0	0	0	0	0	1	5141	639	23	1		1	ENTPD4	8	23290451	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	20326290	23290451	123073571	83	22437										
RAB11FIP1	80223	hgsc.bcm.edu	37	chr8	37732263	37732263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttaacccccatcagcatgccTtccttctccctccctgggac	5	19	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr8:37732263T>C	ENST00000330843.4	-	3	1404	c.1392A>G	c.(1390-1392)gaA>gaG	p.E464E	RAB11FIP1_ENST00000522727.1_Silent_p.E316E|RAB11FIP1_ENST00000287263.4_Silent_p.E464E|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000524118.1_Silent_p.E316E	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	464					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAGCATGCCTTCCTTCTCCC	0.567																																					p.E464E		Atlas-SNP	.											.	RAB11FIP1	105	.	0			c.A1392G						PASS	.						175	171	172					8																	37732263		2203	4300	6503	SO:0001819	synonymous_variant	80223	exon3			CATGCCTTCCTTC	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1392A>G	8.37:g.37732263T>C		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	137	60	0.437956	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	CCDS34882.1																																																																																			.	.	none		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		C	37732263	T	C	37732263	2	2	29	1	0	0	0	0	0	0	0	1	12893	1606	56	3		3	RAB11FIP1	8	37732263	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	14441812	37732263	108631759	84	22438										
IDO1	3620	hgsc.bcm.edu	37	chr8	39782769	39782769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggcaacccccagctatcagaCggtctggtgtatgaagggtt	13	10	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr8:39782769C>T	ENST00000518237.1	+	9	1374	c.735C>T	c.(733-735)gaC>gaT	p.D245D	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.D245D	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	245					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AGCTATCAGACGGTCTGGTGT	0.463																																					p.D245D		Atlas-SNP	.											.	IDO1	43	.	0			c.C735T						PASS	.						39	41	40					8																	39782769		1880	4108	5988	SO:0001819	synonymous_variant	3620	exon9			ATCAGACGGTCTG	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.735C>T	8.37:g.39782769C>T		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	165	66	0.4	NM_002164	Q540B4	Silent	SNP	ENST00000518237.1	37	CCDS47847.1																																																																																			.	.	none		0.463	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		T	39782769	C	T	39782769	2	4	29	1	0	0	0	0	0	0	0	1	7501	535	19	1		1	IDO1	8	39782769	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	2050506	39782769	106581253	85	22439										
MMP16	4325	hgsc.bcm.edu	37	chr8	89128762	89128762	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aacaaacatctcacgacgaaGaatagctagagtgttaaagt	8	7	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr8:89128762G>T	ENST00000286614.6	-	6	1338	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	353					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCACGACGAAGAATAGCTAGA	0.428																																					p.L353I		Atlas-SNP	.											MMP16,NS,carcinoma,+1,1	MMP16	176	1	0			c.C1057A						PASS	.						100	98	99					8																	89128762		2203	4300	6503	SO:0001583	missense	4325	exon6			GACGAAGAATAGC	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1057C>A	8.37:g.89128762G>T	ENSP00000286614:p.Leu353Ile	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	139	65	0.467626	NM_005941	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736234	0.69189	.	.	ENSG00000156103	ENST00000286614	T	0.08193	3.12	5.73	5.73	0.89815	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.31845	0.965	0.80722	D	1	D;P	0.64830	0.994;0.543	P;P	0.60117	0.869;0.812	T	0.05517	-1.0880	10	0.16896	T	0.51	.	20.2786	0.98501	0.0:0.0:1.0:0.0	.	353;353	P51512-2;P51512	.;MMP16_HUMAN	I	353	ENSP00000286614:L353I	ENSP00000286614:L353I	L	-	1	0	MMP16	89197878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CTT	.	.	none		0.428	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		T	89128762	G	T	89128762	3	4	29	1	0	0	0	0	1	0	0	0	9655	942	33	4	942	4	MMP16	8	89128762	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	49345993	89128762	57235260	86	22440										
CDKN2A	1029	hgsc.bcm.edu	37	chr9	21994305	21994305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgcacgcgcgccgaatccggAgggtcaccaagaacctgcgc	13	16	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr9:21994305A>G	ENST00000579755.1	-	1	318	c.26T>C	c.(25-27)cTc>cCc	p.L9P	CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2A_ENST00000361570.3_Missense_Mutation_p.L50P|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2A_ENST00000498628.2_Intron|CDKN2B-AS1_ENST00000468603.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2A_ENST00000530628.2_Missense_Mutation_p.L9P|CDKN2B-AS1_ENST00000582301.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGAATCCGGAGGGTCACCAA	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.L9P		Atlas-SNP	.											.	CDKN2A	4810	.	199	Whole gene deletion(199)	haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	c.T26C						PASS	.						11	13	12					9																	21994305		2177	4270	6447	SO:0001583	missense	1029	exon1			ATCCGGAGGGTCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.26T>C	9.37:g.21994305A>G	ENSP00000462950:p.Leu9Pro	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	24	21	0.875	NM_058195	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000579755.1	37	CCDS6511.2	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522002	0.44866	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	T;T	0.79141	-1.24;-1.24	4.23	4.23	0.50019	.	0.212553	0.23638	N	0.046047	T	0.65238	0.2672	N	0.08118	0	0.19775	N	0.999957	P	0.50710	0.938	P	0.48982	0.597	T	0.60616	-0.7228	10	0.72032	D	0.01	.	9.888	0.41272	1.0:0.0:0.0:0.0	.	50	Q8N726	CD2A2_HUMAN	P	50;9	ENSP00000355153:L50P;ENSP00000432664:L9P	ENSP00000355153:L50P	L	-	2	0	CDKN2A	21984305	0.982000	0.34865	0.153000	0.22517	0.221000	0.24807	2.190000	0.42630	1.917000	0.55516	0.454000	0.30748	CTC	.	.	none		0.726	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051918.5	NM_000077		G	21994305	A	G	21994305	3	3	29	1	0	0	0	0	1	0	0	0	3161	304	11	3	854	3	CDKN2A	9	21994305	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10		21994305	119219126	87	22441										
FOXB2	442425	hgsc.bcm.edu	37	chr9	79635701	79635701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcgctgccgcccgtgtccgcGctgcagccggggctcactgt	15	17	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr9:79635701G>A	ENST00000376708.1	+	1	1131	c.1131G>A	c.(1129-1131)gcG>gcA	p.A377A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	377					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCGTGTCCGCGCTGCAGCCGG	0.741																																					p.A377A		Atlas-SNP	.											.	FOXB2	71	.	0			c.G1131A						PASS	.						5	7	6					9																	79635701		2097	4106	6203	SO:0001819	synonymous_variant	442425	exon1			GTCCGCGCTGCAG		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.1131G>A	9.37:g.79635701G>A		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	54	27	0.5	NM_001013735		Silent	SNP	ENST00000376708.1	37	CCDS35045.1																																																																																			.	.	none		0.741	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		A	79635701	G	A	79635701	2	1	29	1	0	0	0	0	0	0	0	1	5993	1074	38	1		1	FOXB2	9	79635701	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	57641396	79635701	61577730	88	22442										
PHF2	5253	hgsc.bcm.edu	37	chr9	96416812	96416812	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgaccaggtcgacaaatgcTacaagtgcatcgtcaagcag	10	11	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr9:96416812T>A	ENST00000359246.4	+	7	1274	c.907T>A	c.(907-909)Tac>Aac	p.Y303N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	303	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGACAAATGCTACAAGTGCAT	0.587																																					p.Y303N		Atlas-SNP	.											.	PHF2	113	.	0			c.T907A						PASS	.						133	117	123					9																	96416812		2203	4300	6503	SO:0001583	missense	5253	exon7			AAATGCTACAAGT	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.907T>A	9.37:g.96416812T>A	ENSP00000352185:p.Tyr303Asn	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	42	15	0.357143	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888902	0.91814	.	.	ENSG00000197724	ENST00000359246	T	0.73258	-0.73	5.12	5.12	0.69794	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90098	0.4182	10	0.87932	D	0	-25.2923	15.0746	0.72066	0.0:0.0:0.0:1.0	.	303	O75151	PHF2_HUMAN	N	303	ENSP00000352185:Y303N	ENSP00000352185:Y303N	Y	+	1	0	PHF2	95456633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	2.136000	0.66102	0.477000	0.44152	TAC	.	.	none		0.587	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		A	96416812	T	A	96416812	3	1	29	1	0	0	0	0	1	0	0	0	11830	1522	53	5	933	5	PHF2	9	96416812	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	16781111	96416812	44796619	89	22443										
ITIH2	3698	hgsc.bcm.edu	37	chr10	7780636	7780636	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gattccaccccgtcttgggcCaatccttcaccaacgcccgt	7	18	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:7780636C>A	ENST00000358415.4	+	16	2176	c.2010C>A	c.(2008-2010)gcC>gcA	p.A670A	ITIH2_ENST00000379587.4_Silent_p.A659A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	670	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTCTTGGGCCAATCCTTCAC	0.532																																					p.A670A		Atlas-SNP	.											ITIH2,NS,neuroblastoma,0,1	ITIH2	144	1	0			c.C2010A						PASS	.						130	111	118					10																	7780636		2203	4300	6503	SO:0001819	synonymous_variant	3698	exon16			TTGGGCCAATCCT	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2010C>A	10.37:g.7780636C>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	76	31	0.407895	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																			.	.	none		0.532	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7780636	C	A	7780636	2	1	29	1	0	0	0	0	0	0	0	1	7904	581	21	4		4	ITIH2	10	7780636	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		7780636	127754111	90	22444										
GATA3	2625	hgsc.bcm.edu	37	chr10	8100507	8100507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgcccaccccgccgaaggacGtctccccggacccatcgctg	10	21	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:8100507G>A	ENST00000346208.3	+	3	936	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	GATA3_ENST00000379328.3_Missense_Mutation_p.V161I|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	161					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCGAAGGACGTCTCCCCGGA	0.721			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.V161I		Atlas-SNP	.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3	182	.	0			c.G481A						PASS	.						36	42	40					10																	8100507		2201	4297	6498	SO:0001583	missense	2625	exon3			AAGGACGTCTCCC	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.481G>A	10.37:g.8100507G>A	ENSP00000341619:p.Val161Ile	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	42	16	0.380952	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563049	0.65538	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96491	-4.03;-4.01	5.55	5.55	0.83447	.	0.056766	0.64402	D	0.000001	D	0.96131	0.8739	M	0.83012	2.62	0.58432	D	0.999997	P;P	0.47302	0.7;0.893	B;B	0.39465	0.041;0.3	D	0.96314	0.9231	10	0.51188	T	0.08	-15.1001	19.5043	0.95108	0.0:0.0:1.0:0.0	.	161;161	P23771;P23771-2	GATA3_HUMAN;.	I	161	ENSP00000368632:V161I;ENSP00000341619:V161I	ENSP00000341619:V161I	V	+	1	0	GATA3	8140513	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.722000	0.84778	2.607000	0.88179	0.561000	0.74099	GTC	.	.	none		0.721	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		A	8100507	G	A	8100507	3	1	29	1	0	0	0	0	1	0	0	0	6255	1145	40	1	487	1	GATA3	10	8100507	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	319871	8100507	127434240	91	22445										
ARHGAP21	57584	hgsc.bcm.edu	37	chr10	24909678	24909679	+	Frame_Shift_Ins	INS	-	-	G													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agtttttccagtctatgtgcINStgatgggaatttggcgaata							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:24909678_24909679insG	ENST00000396432.2	-	9	1631_1632	c.1145_1146insC	c.(1144-1146)cagfs	p.Q382fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.Q169fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	381					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGTCTATGTGCTGATGGGAATT	0.381																																					p.Q382fs		Atlas-Indel	.											.	ARHGAP21	185	.	0			c.1146_1147insC						PASS	.																																			SO:0001589	frameshift_variant	57584	exon9			.	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1145_1146insC	10.37:g.24909678_24909679insG	ENSP00000379709:p.Gln382fs	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	141	55	0.390071	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	ENST00000396432.2	37	CCDS7144.2																																																																																			.	.	none		0.381	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		G	24909679	-	G	24909678	7	5	29	1	0	1	1	0	0	0	0	0	871	796	28	0	4802	0	ARHGAP21	10	24909678	Frame_Shift_Ins	INS	-	TCGA-GS-A9TT-01A-11D-A382-10	16809171	24909678	110625069	92	22446	453	2								
ARHGAP21	57584	hgsc.bcm.edu	37	chr10	24909679	24909679	+	Frame_Shift_Del	DEL	T	T	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agtttttccagtctatgtgcTgatgggaatttggcgaatag							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:24909679delT	ENST00000396432.2	-	9	1631	c.1145delA	c.(1144-1146)cagfs	p.Q382fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.Q169fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	381					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTCTATGTGCTGATGGGAATT	0.383																																					p.Q382fs		Pindel	.											.	ARHGAP21	185	.	0			c.1146delG						PASS	.						64	62	63					10																	24909679		2203	4300	6503	SO:0001589	frameshift_variant	57584	exon9			.	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1145delA	10.37:g.24909679delT	ENSP00000379709:p.Gln382fs	Somatic	160	.	.		WXS	Illumina HiSeq	Phase_I	139	29	0.209	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	37	CCDS7144.2																																																																																			.	.	none		0.383	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		-	24909679	T	-	24909679	7	5	29	1	0	1	0	1	0	0	0	0	871	1580	55	0	4803	0	ARHGAP21	10	24909679	Frame_Shift_Del	DEL	T	TCGA-GS-A9TT-01A-11D-A382-10	1	24909679	110625068	93	22447	453	2								
C10orf71	118461	hgsc.bcm.edu	37	chr10	50533936	50533937	+	Frame_Shift_Ins	INS	-	-	C													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gagggaggacctgacccacgINSccctcgtgtgggagggcggc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:50533936_50533937insC	ENST00000374144.3	+	3	3634_3635	c.3346_3347insC	c.(3346-3348)gccfs	p.A1116fs	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1116										endometrium(1)	1						CCTGACCCACGCCCTCGTGTGG	0.658																																					p.A1116fs		Atlas-Indel	.											.	C10orf71	179	.	0			c.3346_3347insC						PASS	.																																			SO:0001589	frameshift_variant	118461	exon3			.	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3349dupC	10.37:g.50533939_50533939dupC	ENSP00000363259:p.Ala1116fs	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	34	11	0.323529	NM_001135196	A0AVL8	Frame_Shift_Ins	INS	ENST00000374144.3	37	CCDS44387.1																																																																																			.	.	none		0.658	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		C	50533937	-	C	50533936	7	5	29	1	0	1	1	0	0	0	0	0	1614	1087	38	0	3348	0	C10orf71	10	50533936	Frame_Shift_Ins	INS	-	TCGA-GS-A9TT-01A-11D-A382-10	25624257	50533936	85000811	94	22448	454	3								
C10orf71	118461	hgsc.bcm.edu	37	chr10	50533940	50533940	+	Missense_Mutation	SNP	T	T	C													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggaggacctgacccacgcccTcgtgtgggagggcggctctg							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:50533940T>C	ENST00000374144.3	+	3	3638	c.3350T>C	c.(3349-3351)cTc>cCc	p.L1117P	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1117										endometrium(1)	1						ACCCACGCCCTCGTGTGGGAG	0.657																																					p.L1117P		Atlas-SNP	.											.	C10orf71	179	.	0			c.T3350C						PASS	.						20	24	23					10																	50533940		692	1591	2283	SO:0001583	missense	118461	exon3			ACGCCCTCGTGTG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3350T>C	10.37:g.50533940T>C	ENSP00000363259:p.Leu1117Pro	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	36	13	0.361111	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305585	0.60305	.	.	ENSG00000177354	ENST00000374144	T	0.05258	3.47	5.38	-0.584	0.11702	.	0.498207	0.15004	N	0.285973	T	0.04543	0.0124	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.37009	-0.9724	8	0.32370	T	0.25	.	1.3367	0.02146	0.1493:0.2989:0.1343:0.4176	.	.	.	.	P	1117	ENSP00000363259:L1117P	ENSP00000363259:L1117P	L	+	2	0	C10orf71	50203946	0.000000	0.05858	0.030000	0.17652	0.421000	0.31385	0.464000	0.21988	0.040000	0.15660	0.402000	0.26972	CTC	.	.	none		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		C	50533940	T	C	50533940	3	2	29	1	0	0	0	0	1	0	0	0	1614	1551	54	3	3352	3	C10orf71	10	50533940	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	4	50533940	85000807	95	22449	454	3								
C10orf71	118461	hgsc.bcm.edu	37	chr10	50533942	50533942	+	Missense_Mutation	SNP	G	G	C													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aggacctgacccacgccctcGtgtgggagggcggctctgac							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:50533942G>C	ENST00000374144.3	+	3	3640	c.3352G>C	c.(3352-3354)Gtg>Ctg	p.V1118L	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1118										endometrium(1)	1						CCACGCCCTCGTGTGGGAGGG	0.657																																					p.V1118L		Atlas-SNP	.											.	C10orf71	179	.	0			c.G3352C						PASS	.						21	25	24					10																	50533942		692	1591	2283	SO:0001583	missense	118461	exon3			GCCCTCGTGTGGG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3352G>C	10.37:g.50533942G>C	ENSP00000363259:p.Val1118Leu	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	37	16	0.432432	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299071	0.40694	.	.	ENSG00000177354	ENST00000374144	T	0.04406	3.63	5.38	-4.86	0.03132	.	2.277970	0.02380	N	0.078691	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.41034	-0.9531	8	0.09084	T	0.74	.	5.7483	0.18132	0.4766:0.0:0.2649:0.2586	.	.	.	.	L	1118	ENSP00000363259:V1118L	ENSP00000363259:V1118L	V	+	1	0	C10orf71	50203948	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-1.398000	0.02509	-1.114000	0.02977	-0.339000	0.08088	GTG	.	.	none		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		C	50533942	G	C	50533942	3	2	29	1	0	0	0	0	1	0	0	0	1614	1145	40	4	3354	4	C10orf71	10	50533942	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	2	50533942	85000805	96	22450	454	3								
PIK3AP1	118788	hgsc.bcm.edu	37	chr10	98405403	98405403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cctctttaatgtgactcttgAgcatgtccaccgtttcctga	7	12	2	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:98405403A>C	ENST00000339364.5	-	8	1321	c.1202T>G	c.(1201-1203)cTc>cGc	p.L401R	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L223R	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	401					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGACTCTTGAGCATGTCCAC	0.567																																					p.L401R		Atlas-SNP	.											.	PIK3AP1	111	.	0			c.T1202G						PASS	.						141	111	121					10																	98405403		2203	4300	6503	SO:0001583	missense	118788	exon8			CTCTTGAGCATGT	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1202T>G	10.37:g.98405403A>C	ENSP00000339826:p.Leu401Arg	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	125	44	0.352	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421619	0.83559	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.26223	2.52;1.75	5.81	5.81	0.92471	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42015	-0.9476	10	0.52906	T	0.07	-14.782	15.3374	0.74269	1.0:0.0:0.0:0.0	.	401	Q6ZUJ8	BCAP_HUMAN	R	401;223	ENSP00000339826:L401R;ENSP00000360151:L223R	ENSP00000339826:L401R	L	-	2	0	PIK3AP1	98395393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.299000	0.89946	2.210000	0.71456	0.533000	0.62120	CTC	.	.	none		0.567	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		C	98405403	A	C	98405403	3	2	29	1	0	0	0	0	1	0	0	0	11908	304	11	5	1255	5	PIK3AP1	10	98405403	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	47871461	98405403	37129344	97	22451										
CALHM2	51063	hgsc.bcm.edu	37	chr10	105209154	105209154	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agctccttacctgggactcaTacctgagcctgcggctgacc	10	15	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:105209154T>A	ENST00000260743.5	-	3	1068	c.545A>T	c.(544-546)tAt>tTt	p.Y182F	CALHM2_ENST00000393235.1_Missense_Mutation_p.Y182F|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.Y182F|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	182					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGGACTCATACCTGAGCCT	0.602																																					p.Y182F		Atlas-SNP	.											.	CALHM2	30	.	0			c.A545T						PASS	.						67	70	69					10																	105209154		2194	4283	6477	SO:0001583	missense	51063	exon3			GACTCATACCTGA	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.545A>T	10.37:g.105209154T>A	ENSP00000260743:p.Tyr182Phe	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	41	14	0.341463	NM_015916	D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617645	0.87359	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18502	2.21;2.21;2.21	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.80183	2.485	0.53005	D	0.999965	D;P	0.89917	1.0;0.86	D;P	0.83275	0.996;0.528	T	0.46693	-0.9173	10	0.02654	T	1	-3.6496	15.6983	0.77517	0.0:0.0:0.0:1.0	.	182;182	Q9HA72-2;Q9HA72	.;CAHM2_HUMAN	F	182	ENSP00000358803:Y182F;ENSP00000260743:Y182F;ENSP00000376927:Y182F	ENSP00000260743:Y182F	Y	-	2	0	CALHM2	105199144	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	6.980000	0.76160	2.112000	0.64535	0.459000	0.35465	TAT	.	.	none		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105209154	T	A	105209154	3	1	29	1	0	0	0	0	1	0	0	0	2583	1406	49	5	434	5	CALHM2	10	105209154	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	6803751	105209154	30325593	98	22452										
PNLIPRP3	119548	hgsc.bcm.edu	37	chr10	118220524	118220524	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cacaacactccaaaggaagtCaggctagacccctcggatgc	9	14	1	1	rs199970109	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr10:118220524C>A	ENST00000369230.3	+	6	758	c.612C>A	c.(610-612)gtC>gtA	p.V204V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	204					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.V204V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAAAGGAAGTCAGGCTAGACC	0.438																																					p.V204V		Atlas-SNP	.											PNLIPRP3,NS,carcinoma,0,1	PNLIPRP3	101	1	1	Substitution - coding silent(1)	lung(1)	c.C612A						PASS	.						125	113	117					10																	118220524		2203	4300	6503	SO:0001819	synonymous_variant	119548	exon6			GGAAGTCAGGCTA	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.612C>A	10.37:g.118220524C>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	187	57	0.304813	NM_001011709		Silent	SNP	ENST00000369230.3	37	CCDS31292.1																																																																																			C|0.999;T|0.001	.	alt		0.438	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		A	118220524	C	A	118220524	2	1	29	1	0	0	0	0	0	0	0	1	12152	813	29	4		4	PNLIPRP3	10	118220524	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	13011370	118220524	17314223	99	22453										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa	15	5	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	694	25	0.0360231		WXS	Illumina HiSeq	Phase_I	564	20	0.035461	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	29	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		1016849	133989667	100	22454										
NELL1	4745	hgsc.bcm.edu	37	chr11	20948897	20948897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tagtcaattggaaaactgtcAttgtgagaagacttgtcaag	10	5	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:20948897A>G	ENST00000357134.5	+	8	955	c.803A>G	c.(802-804)cAt>cGt	p.H268R	NELL1_ENST00000298925.5_Missense_Mutation_p.H296R|NELL1_ENST00000325319.5_Missense_Mutation_p.H211R|NELL1_ENST00000532434.1_Missense_Mutation_p.H268R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	268					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAAAACTGTCATTGTGAGAAG	0.398																																					p.H268R		Atlas-SNP	.											.	NELL1	179	.	0			c.A803G						PASS	.						137	129	132					11																	20948897		2203	4300	6503	SO:0001583	missense	4745	exon8			ACTGTCATTGTGA	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.803A>G	11.37:g.20948897A>G	ENSP00000349654:p.His268Arg	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	65	30	0.461538	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081924	0.76528	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.36672	1.1	0.58432	D	0.999997	D;D;D;D	0.71674	0.996;0.993;0.998;0.985	D;D;D;P	0.77557	0.99;0.977;0.923;0.637	T	0.66052	-0.6019	10	0.23302	T	0.38	-19.4505	15.9803	0.80105	1.0:0.0:0.0:0.0	.	211;296;268;268	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	R	296;268;211;268	ENSP00000298925:H296R;ENSP00000349654:H268R;ENSP00000317837:H211R;ENSP00000437170:H268R	ENSP00000298925:H296R	H	+	2	0	NELL1	20905473	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.701000	0.91331	2.170000	0.68504	0.455000	0.32223	CAT	.	.	none		0.398	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		G	20948897	A	G	20948897	3	3	29	1	0	0	0	0	1	0	0	0	10333	217	8	2	833	2	NELL1	11	20948897	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	19932048	20948897	114057619	101	22455										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	14	5	1	4	rs200778682	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																					p.I111T		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,4	TRIM48	149	4	0			c.T332C						scavenged	.						98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097	exon2			GTGGCATTCACAG	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr	Somatic	674	10	0.0148368		WXS	Illumina HiSeq	Phase_I	497	12	0.0241449	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT	T|0.996;C|0.004	0.004	strong		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	29	1	0	0	0	0	1	0	0	0	16520	1493	52	2	338	2	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	34083766	55032663	79973853	102	22456										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579714	55579714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tccatggaacagtcctttccAtttattgcaggcccagttca	7	12	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:55579714A>G	ENST00000333973.2	+	1	861	c.772A>G	c.(772-774)Att>Gtt	p.I258V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTCCTTTCCATTTATTGCAG	0.512																																					p.I258V		Atlas-SNP	.											.	OR5L1	145	.	0			c.A772G						PASS	.						120	104	109					11																	55579714		2200	4296	6496	SO:0001583	missense	219437	exon1			CTTTCCATTTATT	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.772A>G	11.37:g.55579714A>G	ENSP00000335529:p.Ile258Val	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	90	45	0.5	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	10.21	1.286627	0.23478	.	.	ENSG00000186117	ENST00000333973	T	0.00076	8.76	4.12	-2.28	0.06826	GPCR, rhodopsin-like superfamily (1);	0.509225	0.18083	N	0.152222	T	0.00073	0.0002	N	0.16130	0.375	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.30909	-0.9962	10	0.72032	D	0.01	-12.5116	5.7752	0.18275	0.4031:0.4296:0.1673:0.0	.	258	Q8NGL2	OR5L1_HUMAN	V	258	ENSP00000335529:I258V	ENSP00000335529:I258V	I	+	1	0	OR5L1	55336290	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.358000	0.20216	-0.300000	0.08895	-0.815000	0.03128	ATT	.	.	none		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		G	55579714	A	G	55579714	3	3	29	1	0	0	0	0	1	0	0	0	11170	217	8	2	774	2	OR5L1	11	55579714	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	547051	55579714	79426802	103	22457										
OR5M10	390167	hgsc.bcm.edu	37	chr11	56345145	56345145	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tctctagcactgggtcgtctGtcagtcctaagagaatgaat	10	9	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:56345145G>C	ENST00000526812.2	-	1	118	c.53C>G	c.(52-54)aCa>aGa	p.T18R		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGGTCGTCTGTCAGTCCTAA	0.463																																					p.T18R		Atlas-SNP	.											.	OR5M10	56	.	0			c.C53G						PASS	.						156	146	149					11																	56345145		1908	4132	6040	SO:0001583	missense	390167	exon1			TCGTCTGTCAGTC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.53C>G	11.37:g.56345145G>C	ENSP00000436004:p.Thr18Arg	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	153	63	0.411765	NM_001004741	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845689	0.32606	.	.	ENSG00000254834	ENST00000526812	T	0.00438	7.42	4.04	4.04	0.47022	.	.	.	.	.	T	0.00998	0.0033	M	0.82716	2.605	0.09310	N	1	D	0.58268	0.982	P	0.59115	0.852	T	0.44452	-0.9327	9	0.72032	D	0.01	.	10.7138	0.46000	0.0:0.0:0.8092:0.1908	.	18	Q6IEU7	OR5MA_HUMAN	R	18	ENSP00000436004:T18R	ENSP00000436004:T18R	T	-	2	0	OR5M10	56101721	0.101000	0.21875	0.969000	0.41365	0.083000	0.17756	2.759000	0.47573	2.238000	0.73509	0.632000	0.83419	ACA	.	.	none		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		C	56345145	G	C	56345145	3	2	29	1	0	0	0	0	1	0	0	0	11173	1377	48	4	898	4	OR5M10	11	56345145	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	765431	56345145	78661371	104	22458										
ALG8	79053	hgsc.bcm.edu	37	chr11	77815052	77815052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aaagtcttcagtgacgaaatActatatatggtgaatagtaa	8	4	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:77815052A>G	ENST00000299626.5	-	12	1394	c.1323T>C	c.(1321-1323)agT>agC	p.S441S	ALG8_ENST00000376156.3_Silent_p.S441S|ALG8_ENST00000532552.2_5'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	441					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GTGACGAAATACTATATATGG	0.269																																					p.S441S		Atlas-SNP	.											.	ALG8	54	.	0			c.T1323C						PASS	.						25	29	28					11																	77815052		2166	4252	6418	SO:0001819	synonymous_variant	79053	exon12			CGAAATACTATAT	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1323T>C	11.37:g.77815052A>G		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	228	117	0.513158	NM_024079	A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	A	9.014	0.983159	0.18889	.	.	ENSG00000159063	ENST00000530608;ENST00000532306	.	.	.	5.66	4.54	0.55810	.	.	.	.	.	T	0.56673	0.2001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54964	-0.8214	4	.	.	.	-10.9941	6.8814	0.24174	0.8312:0.0:0.1688:0.0	.	.	.	.	A	143;228	.	.	V	-	2	0	ALG8	77492700	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.624000	0.46444	2.147000	0.66899	0.533000	0.62120	GTA	.	.	none		0.269	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		G	77815052	A	G	77815052	2	3	29	1	0	0	0	0	0	0	0	1	523	388	14	2		2	ALG8	11	77815052	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	21469907	77815052	57191464	105	22459										
CCDC89	220388	hgsc.bcm.edu	37	chr11	85396761	85396761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcttgtattcatccttgaagCggagcatcaactcgtggttg	10	9	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:85396761C>T	ENST00000316398.3	-	1	559	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATCCTTGAAGCGGAGCATCAA	0.517																																					p.R138H		Atlas-SNP	.											.	CCDC89	45	.	0			c.G413A						PASS	.						105	92	96					11																	85396761		2203	4299	6502	SO:0001583	missense	220388	exon1			TTGAAGCGGAGCA	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.413G>A	11.37:g.85396761C>T	ENSP00000320649:p.Arg138His	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	92	44	0.478261	NM_152723		Missense_Mutation	SNP	ENST00000316398.3	37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	c	16.35	3.099386	0.56183	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.53	4.62	0.57501	.	0.712446	0.14115	N	0.340425	T	0.51007	0.1649	M	0.76002	2.32	0.32187	N	0.579655	B	0.22211	0.066	B	0.17098	0.017	T	0.56214	-0.8016	8	.	.	.	-8.569	9.1248	0.36807	0.0:0.7911:0.0:0.2089	.	138	Q8N998	CCD89_HUMAN	H	138	.	.	R	-	2	0	CCDC89	85074409	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.958000	0.40402	1.346000	0.45694	-0.141000	0.14075	CGC	.	.	none		0.517	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		T	85396761	C	T	85396761	3	4	29	1	0	0	0	0	1	0	0	0	2866	768	27	1	715	1	CCDC89	11	85396761	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7581709	85396761	49609755	106	22460										
FAT3	120114	hgsc.bcm.edu	37	chr11	92577432	92577432	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttccaggtacccattgatgtGgtcgtgcatgtggagcagtt	13	8	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:92577432G>C	ENST00000298047.6	+	18	10916	c.10899G>C	c.(10897-10899)gtG>gtC	p.V3633V	FAT3_ENST00000525166.1_Silent_p.V3483V|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000409404.2_Silent_p.V3633V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3633	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATTGATGTGGTCGTGCATG	0.547										TCGA Ovarian(4;0.039)																											p.V3633V		Atlas-SNP	.											.	FAT3	1822	.	0			c.G10899C						PASS	.						138	143	141					11																	92577432		2167	4274	6441	SO:0001819	synonymous_variant	120114	exon18			TGATGTGGTCGTG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10899G>C	11.37:g.92577432G>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	69	30	0.434783	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.	.	none		0.547	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92577432	G	C	92577432	2	2	29	1	0	0	0	0	0	0	0	1	5691	1335	47	4		4	FAT3	11	92577432	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	7180671	92577432	42429084	107	22461										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94554798	94554798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgcactctgtctccctgccGcttccactcccgatggccct	7	20	2	0	rs370986721		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:94554798G>A	ENST00000433060.2	+	4	1365	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Silent_p.P358P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	408					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCTCCCTGCCGCTTCCACTCC	0.667																																					p.P408P		Atlas-SNP	.											.	AMOTL1	95	.	0			c.G1224A						PASS	.	A		0,4158		0,0,2079	26	32	30		1224	-10.5	0	11		30	1,8427		0,1,4213	no	coding-synonymous	AMOTL1	NM_130847.2		0,1,6292	AA,AG,GG		0.0119,0.0,0.0079		408/957	94554798	1,12585	2079	4214	6293	SO:0001819	synonymous_variant	154810	exon4			CCTGCCGCTTCCA	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1224G>A	11.37:g.94554798G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	71	33	0.464789	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																			.	.	weak		0.667	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94554798	G	A	94554798	2	1	29	1	0	0	0	0	0	0	0	1	583	1074	38	1		1	AMOTL1	11	94554798	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1977366	94554798	40451718	108	22462										
AMOTL1	154810	hgsc.bcm.edu	37	chr11	94583365	94583365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aggaccatcggagacacatcGagatcctggaccaggctttg	12	11	0	2	rs566138044		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:94583365G>A	ENST00000433060.2	+	7	1876	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.E529K	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	579					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GAGACACATCGAGATCCTGGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19935	0.001		0.0	False		,,,				2504	0.0				p.E579K		Atlas-SNP	.											.	AMOTL1	95	.	0			c.G1735A						PASS	.						46	55	52					11																	94583365		2025	4179	6204	SO:0001583	missense	154810	exon7			CACATCGAGATCC	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1735G>A	11.37:g.94583365G>A	ENSP00000387739:p.Glu579Lys	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	58	37	0.637931	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664939	0.88251	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.25749	1.78;1.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.70275	2.135	0.80722	D	1	P;B	0.36183	0.542;0.111	B;B	0.43251	0.413;0.051	T	0.13656	-1.0501	10	0.46703	T	0.11	-34.7551	20.088	0.97803	0.0:0.0:1.0:0.0	.	529;579	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	K	529;585;579	ENSP00000320968:E529K;ENSP00000387739:E579K	ENSP00000320968:E529K	E	+	1	0	AMOTL1	94223013	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.578000	0.98200	2.739000	0.93911	0.655000	0.94253	GAG	.	.	none		0.522	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94583365	G	A	94583365	3	1	29	1	0	0	0	0	1	0	0	0	583	1059	37	1	1761	1	AMOTL1	11	94583365	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	28567	94583365	40423151	109	22463										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	8	4	1	4	rs142812088		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																					p.F107F		Atlas-SNP	.											OR8B3,NS,carcinoma,0,1	OR8B3	36	1	0			c.T321C						scavenged	.						78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			GATGACAAAAAAG	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G		Somatic	335	18	0.0537313		WXS	Illumina HiSeq	Phase_I	245	24	0.0979592	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	29	1	0	0	0	0	0	0	0	1	11228	127	5	2		2	OR8B3	11	124266927	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	29683562	124266927	10739589	110	22464										
JAM3	83700	hgsc.bcm.edu	37	chr11	134019043	134019043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgtgtgttggctttgcagggCgacttcagacacaagtcatc	12	9	2	1	rs200279211		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr11:134019043C>T	ENST00000299106.4	+	9	1059	c.900C>T	c.(898-900)ggC>ggT	p.G300G	NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000441717.3_Silent_p.G249G|JAM3_ENST00000529443.2_Silent_p.G345G			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	300					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CTTTGCAGGGCGACTTCAGAC	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.0				p.G300G		Atlas-SNP	.											.	JAM3	41	.	0			c.C900T						PASS	.						138	122	127					11																	134019043		2201	4297	6498	SO:0001819	synonymous_variant	83700	exon9			GCAGGGCGACTTC	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.900C>T	11.37:g.134019043C>T		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	145	66	0.455172	NM_032801	B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	CCDS8494.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.819	0.520209	0.13005	.	.	ENSG00000166086	ENST00000529443	.	.	.	6.04	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1871	0.65612	0.0:0.2635:0.0769:0.6596	.	.	.	.	X	254	.	.	R	+	1	2	JAM3	133524253	0.021000	0.18746	0.743000	0.31040	0.986000	0.74619	-1.218000	0.02976	-1.497000	0.01826	-0.251000	0.11542	CGA	C|1.000;T|0.000	0.000	strong		0.517	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		T	134019043	C	T	134019043	2	4	29	1	0	0	0	0	0	0	0	1	7944	755	27	1		1	JAM3	11	134019043	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	9752116	134019043	987473	111	22465										
C12orf59	120939	hgsc.bcm.edu	37	chr12	10339160	10339160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	accgtcattgctttcgatcaCgacagcactctccagagcac	7	15	3	1	rs145013082	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:10339160C>T	ENST00000381923.2	+	5	683	c.279C>T	c.(277-279)caC>caT	p.H93H	TMEM52B_ENST00000298530.3_Silent_p.H73H|TMEM52B_ENST00000536952.1_Silent_p.H93H			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	93						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTTTCGATCACGACAGCACTC	0.522																																					p.H73H		Atlas-SNP	.											.	.	.	.	0			c.C219T						PASS	.	C		0,4406		0,0,2203	97	87	91		219	-6.6	0.9	12	dbSNP_134	91	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	C12orf59	NM_153022.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		73/164	10339160	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	120939	exon3			CGATCACGACAGC	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.279C>T	12.37:g.10339160C>T		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	26	0.38806	NM_153022	Q96NA7	Silent	SNP	ENST00000381923.2	37																																																																																				C|1.000;T|0.000	0.000	strong		0.522	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		T	10339160	C	T	10339160	2	4	29	1	0	0	0	0	0	0	0	1	1702	535	19	1		1	C12orf59	12	10339160	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		10339160	123512735	112	22466										
TAS2R19	259294	hgsc.bcm.edu	37	chr12	11174305	11174306	+	Frame_Shift_Del	DEL	GT	GT	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gccacaaaactgaaagaaagGtctgttttagcttcctactt							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:11174305_11174306delGT	ENST00000390673.2	-	1	913_914	c.865_866delAC	c.(865-867)accfs	p.T289fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	289					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGAAAGAAAGGTCTGTTTTAGC	0.441																																					p.289_289del		Pindel,Atlas-Indel	.											.	TAS2R19	30	.	0			c.866_867del						PASS	.																																			SO:0001589	frameshift_variant	259294	exon1			.	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.865_866delAC	12.37:g.11174305_11174306delGT	ENSP00000375091:p.Thr289fs	Somatic	116	.	.		WXS	Illumina HiSeq	Phase_I	81	35	0.432	NM_176888	Q3MIJ4|Q645X8	Frame_Shift_Del	DEL	ENST00000390673.2	37	CCDS8640.1																																																																																			.	.	none		0.441	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		-	11174306	GT	-	11174305	7	5	29	1	0	1	0	1	0	0	0	0	15567	1261	44	0	36	0	TAS2R19	12	11174305	Frame_Shift_Del	DEL	GT	TCGA-GS-A9TT-01A-11D-A382-10	835145	11174305	122677590	113	22467										
PDE3A	5139	hgsc.bcm.edu	37	chr12	20787920	20787920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	acagaatgaagatgaaacagAgtgcctgagagagcctctga	12	7	1	8			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:20787920A>G	ENST00000359062.3	+	8	1971	c.1931A>G	c.(1930-1932)gAg>gGg	p.E644G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	644					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GATGAAACAGAGTGCCTGAGA	0.423																																					p.E644G		Atlas-SNP	.											.	PDE3A	184	.	0			c.A1931G						PASS	.						149	127	135					12																	20787920		2203	4300	6503	SO:0001583	missense	5139	exon8			AAACAGAGTGCCT		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1931A>G	12.37:g.20787920A>G	ENSP00000351957:p.Glu644Gly	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	51	20	0.392157	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971029	0.53614	.	.	ENSG00000172572	ENST00000359062	T	0.64991	-0.13	5.64	4.5	0.54988	.	3.679390	0.00550	N	0.000256	T	0.69895	0.3162	L	0.55481	1.735	0.45995	D	0.998804	P	0.50443	0.935	P	0.49528	0.614	T	0.50440	-0.8828	10	0.42905	T	0.14	.	11.0409	0.47831	0.9266:0.0:0.0734:0.0	.	644	Q14432	PDE3A_HUMAN	G	644	ENSP00000351957:E644G	ENSP00000351957:E644G	E	+	2	0	PDE3A	20679187	1.000000	0.71417	0.816000	0.32577	0.078000	0.17371	6.704000	0.74639	0.984000	0.38629	0.528000	0.53228	GAG	.	.	none		0.423	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			G	20787920	A	G	20787920	3	3	29	1	0	0	0	0	1	0	0	0	11637	304	11	3	1961	3	PDE3A	12	20787920	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	9613615	20787920	113063975	114	22468										
KRT1	3848	hgsc.bcm.edu	37	chr12	53069235	53069235	+	Silent	SNP	G	G	A													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tagctgccacctccggagccGtagctgctacctccggagcc					rs540699806|rs11170232|rs267607656	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:53069235G>A	ENST00000252244.3	-	9	1735	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	559	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctccggagccgtagctgctac	0.682													G|||	2135	0.426318	0.4947	0.4424	5008	,	,		8632	0.2411		0.4523	False		,,,				2504	0.4867				p.Y559Y		Atlas-SNP	.											.	KRT1	110	.	0			c.C1677T						PASS	.						4	5	4					12																	53069235		1823	3683	5506	SO:0001819	synonymous_variant	3848	exon9			GGAGCCGTAGCTG	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1677C>T	12.37:g.53069235G>A		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	29	15	0.517241	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	CCDS8836.1																																																																																			G|0.500;A|0.500	0.500	strong		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		A	53069235	G	A	53069235	2	1	29	1	0	0	0	0	0	0	0	1	8447	1140	40	1		1	KRT1	12	53069235	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	32281315	53069235	80782660	115	22469	455	2								
KRT1	3848	hgsc.bcm.edu	37	chr12	53069243	53069243	+	Missense_Mutation	SNP	T	T	C													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	acctccggagccgtagctgcTacctccggagccatagctgc					rs77846840|rs540699806|rs267607656	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:53069243T>C	ENST00000252244.3	-	9	1727	c.1669A>G	c.(1669-1671)Agc>Ggc	p.S557G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccgtagctgctacctccggag	0.682																																					p.S557G		Atlas-SNP	.											.	KRT1	110	.	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)	c.A1669G						PASS	.						4	4	4					12																	53069243		1805	3566	5371	SO:0001583	missense	3848	exon9			AGCTGCTACCTCC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669A>G	12.37:g.53069243T>C	ENSP00000252244:p.Ser557Gly	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	26	12	0.461538	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	t	12.77	2.037794	0.35989	.	.	ENSG00000167768	ENST00000252244	T	0.81247	-1.47	3.63	0.628	0.17681	.	.	.	.	.	T	0.54711	0.1875	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	8	0.07644	T	0.81	.	5.639	0.17552	0.0:0.6406:0.1602:0.1993	.	557	P04264	K2C1_HUMAN	G	557	ENSP00000252244:S557G	ENSP00000252244:S557G	S	-	1	0	KRT1	51355510	0.000000	0.05858	0.034000	0.17996	0.201000	0.24016	-0.192000	0.09587	-0.104000	0.12154	-1.598000	0.00824	AGC	T|0.500;C|0.500	0.500	weak		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		C	53069243	T	C	53069243	3	2	29	1	0	0	0	0	1	0	0	0	8447	1522	53	3	269	3	KRT1	12	53069243	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	8	53069243	80782652	116	22470	455	2								
HNRNPA1	3178	hgsc.bcm.edu	37	chr12	54676988	54676988	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gctatgacagctataacaacGgaggcggaggcggctttggc	15	9	0	1	rs367836050|rs539863165	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:54676988G>T	ENST00000340913.6	+	8	930	c.877G>T	c.(877-879)Gga>Tga	p.G293*	HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000546500.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	293	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTATAACAACGGAGGCGGAGG	0.537																																					p.G293X	Colon(83;502 1289 8436 16406 24870)	Atlas-SNP	.											.	HNRNPA1	72	.	0			c.G877T						PASS	.						46	66	59					12																	54676988		2040	4175	6215	SO:0001587	stop_gained	3178	exon8			AACAACGGAGGCG	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.877G>T	12.37:g.54676988G>T	ENSP00000341826:p.Gly293*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	101	36	0.356436	NM_031157	A8K4Z8|Q3MIB7|Q6PJZ7	Nonsense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153932	0.78114	.	.	ENSG00000135486	ENST00000340913	.	.	.	2.8	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	9.9561	0.41668	0.0:0.2089:0.7911:0.0	.	.	.	.	X	293	.	ENSP00000341826:G293X	G	+	1	0	HNRNPA1	52963255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.265000	0.58865	0.753000	0.32945	0.455000	0.32223	GGA	.	.	alt		0.537	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		T	54676988	G	T	54676988	4	4	29	1	0	0	0	0	0	1	0	0	7257	1117	39	4	907	4	HNRNPA1	12	54676988	Nonsense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1607745	54676988	79174907	117	22471										
NUAK1	9891	hgsc.bcm.edu	37	chr12	106460866	106460866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgctgatgacactggaagggCggctgtagctccgggagagg	18	9	0	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:106460866C>T	ENST00000261402.2	-	7	3079	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	567					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACTGGAAGGGCGGCTGTAGCT	0.632																																					p.R567H		Atlas-SNP	.											NUAK1_ENST00000261402,NS,malignant_melanoma,-1,2	NUAK1	196	2	0			c.G1700A						scavenged	.						32	38	36					12																	106460866		2202	4300	6502	SO:0001583	missense	9891	exon7			GAAGGGCGGCTGT	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1700G>A	12.37:g.106460866C>T	ENSP00000261402:p.Arg567His	Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	99	25	0.252525	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941751	0.92526	.	.	ENSG00000074590	ENST00000261402	D	0.82893	-1.66	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000014	D	0.90082	0.6902	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.90088	0.4175	10	0.62326	D	0.03	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	567	O60285	NUAK1_HUMAN	H	567	ENSP00000261402:R567H	ENSP00000261402:R567H	R	-	2	0	NUAK1	104984996	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.717000	0.68446	2.665000	0.90641	0.563000	0.77884	CGC	.	.	none		0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		T	106460866	C	T	106460866	3	4	29	1	0	0	0	0	1	0	0	0	10712	768	27	1	289	1	NUAK1	12	106460866	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	51783878	106460866	27391029	118	22472										
BTBD11	121551	hgsc.bcm.edu	37	chr12	108011111	108011111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggttagtttgctgttggagcGtggtgccgatcccctgatag	15	8	0	1	rs190270378	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:108011111G>A	ENST00000280758.5	+	9	2657	c.2129G>A	c.(2128-2130)cGt>cAt	p.R710H	BTBD11_ENST00000357167.4_Missense_Mutation_p.R247H|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.R710H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	710						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGTTGGAGCGTGGTGCCGAT	0.483													G|||	3	0.000599042	0.0008	0.0	5008	,	,		21085	0.001		0.001	False		,,,				2504	0.0				p.R710H		Atlas-SNP	.											BTBD11,colon,carcinoma,+1,1	BTBD11	122	1	0			c.G2129A						scavenged	.						113	122	119					12																	108011111		2203	4300	6503	SO:0001583	missense	121551	exon9			TGGAGCGTGGTGC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2129G>A	12.37:g.108011111G>A	ENSP00000280758:p.Arg710His	Somatic	193	2	0.0103627		WXS	Illumina HiSeq	Phase_I	210	121	0.57619	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	18.33	3.599668	0.66332	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.62498	0.02;0.02;0.02	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	N	0.03177	-0.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.80764	0.975;0.994;0.795	T	0.63457	-0.6633	10	0.19590	T	0.45	.	19.3748	0.94503	0.0:0.0:1.0:0.0	.	247;710;710	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	710;710;247	ENSP00000280758:R710H;ENSP00000447319:R710H;ENSP00000349690:R247H	ENSP00000280758:R710H	R	+	2	0	BTBD11	106535241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.810000	0.75216	2.572000	0.86782	0.655000	0.94253	CGT	G|0.999;A|0.001	0.001	strong		0.483	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	108011111	G	A	108011111	3	1	29	1	0	0	0	0	1	0	0	0	1539	1145	40	1	2268	1	BTBD11	12	108011111	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1550245	108011111	25840784	119	22473										
LHX5	64211	hgsc.bcm.edu	37	chr12	113901352	113901352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cttcccggcgcgtagtagtcGccttggtagtctgcggaggg	16	11	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:113901352G>A	ENST00000261731.3	-	5	1425	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	284					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CGTAGTAGTCGCCTTGGTAGT	0.721																																					p.G284G		Atlas-SNP	.											.	LHX5	39	.	0			c.C852T						PASS	.						11	13	13					12																	113901352		2154	4167	6321	SO:0001819	synonymous_variant	64211	exon5			GTAGTCGCCTTGG	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.852C>T	12.37:g.113901352G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	44	29	0.659091	NM_022363	Q32MA4	Silent	SNP	ENST00000261731.3	37	CCDS9171.1																																																																																			.	.	none		0.721	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		A	113901352	G	A	113901352	2	1	29	1	0	0	0	0	0	0	0	1	8774	1074	38	1		1	LHX5	12	113901352	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	5890241	113901352	19950543	120	22474										
KDM2B	84678	hgsc.bcm.edu	37	chr12	121881588	121881588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gaaccgggggacgtttgaagCgatgaggcctaaaggggggt	19	6	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:121881588C>T	ENST00000377071.4	-	17	2532	c.2460G>A	c.(2458-2460)tcG>tcA	p.S820S	KDM2B_ENST00000542973.1_Silent_p.S188S|KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	820					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACGTTTGAAGCGATGAGGCCT	0.607											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S820S		Atlas-SNP	.											KDM2B_ENST00000377071,rectum,carcinoma,-1,2	KDM2B	218	2	0			c.G2460A						PASS	.						37	43	41					12																	121881588		1976	4158	6134	SO:0001819	synonymous_variant	84678	exon17			TTGAAGCGATGAG	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2460G>A	12.37:g.121881588C>T		Somatic	14	0	0	1514	WXS	Illumina HiSeq	Phase_I	14	13	0.928571	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	CCDS41850.1																																																																																			.	.	none		0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121881588	C	T	121881588	2	4	29	1	0	0	0	0	0	0	0	1	8125	755	27	1		1	KDM2B	12	121881588	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	7980236	121881588	11970307	121	22475										
ZCCHC8	55596	hgsc.bcm.edu	37	chr12	122958280	122958280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gctgatgtcacagtttggtaCgacactgccattatcaagaa	9	9	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr12:122958280C>T	ENST00000336229.4	-	14	2018	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.V392I|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.V392I|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.V241I	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	630					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CAGTTTGGTACGACACTGCCA	0.493																																					p.V630I		Atlas-SNP	.											.	ZCCHC8	56	.	0			c.G1888A						PASS	.						156	155	155					12																	122958280		1960	4140	6100	SO:0001583	missense	55596	exon14			TTGGTACGACACT	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1888G>A	12.37:g.122958280C>T	ENSP00000337313:p.Val630Ile	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	267	161	0.602996	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	10.54	1.379058	0.24944	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.78	-0.726	0.11170	.	0.855254	0.10528	N	0.664129	T	0.27629	0.0679	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26224	-1.0109	10	0.37606	T	0.19	0.0081	1.0127	0.01501	0.2262:0.3504:0.1053:0.318	.	630	Q6NZY4	ZCHC8_HUMAN	I	392;392;630;241	ENSP00000441423:V392I;ENSP00000438993:V392I;ENSP00000337313:V630I;ENSP00000440028:V241I	ENSP00000337313:V630I	V	-	1	0	ZCCHC8	121524233	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-0.449000	0.07117	-0.827000	0.03088	GTA	.	.	none		0.493	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		T	122958280	C	T	122958280	3	4	29	1	0	0	0	0	1	0	0	0	17591	536	19	1	239	1	ZCCHC8	12	122958280	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	1076692	122958280	10893615	122	22476										
KLHL1	57626	hgsc.bcm.edu	37	chr13	70370951	70370951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtaacattcaacagtgttcaAtgtctttaagccatctcgac	6	10	4	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr13:70370951A>G	ENST00000377844.4	-	7	2317	c.1558T>C	c.(1558-1560)Ttg>Ctg	p.L520L	KLHL1_ENST00000545028.1_Silent_p.L327L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	520					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACAGTGTTCAATGTCTTTAAG	0.423																																					p.L520L		Atlas-SNP	.											.	KLHL1	164	.	0			c.T1558C						PASS	.						208	177	188					13																	70370951		2203	4300	6503	SO:0001819	synonymous_variant	57626	exon7			TGTTCAATGTCTT	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1558T>C	13.37:g.70370951A>G		Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	152	69	0.453947	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																			.	.	none		0.423	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		G	70370951	A	G	70370951	2	3	29	1	0	0	0	0	0	0	0	1	8365	98	4	2		2	KLHL1	13	70370951	Silent	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10		70370951	44798927	123	22477										
RNF113B	140432	hgsc.bcm.edu	37	chr13	98829048	98829048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcaggtagctgtggattcccCggtagatgtggtcgtgctcc	14	10	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr13:98829048C>T	ENST00000267291.6	-	1	471	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	148							zinc ion binding (GO:0008270)	p.R148Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTGGATTCCCCGGTAGATGTG	0.647																																					p.R148Q		Atlas-SNP	.											RNF113B,mouth,carcinoma,0,1	RNF113B	41	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G443A						PASS	.						98	83	88					13																	98829048		2203	4300	6503	SO:0001583	missense	140432	exon1			ATTCCCCGGTAGA	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.443G>A	13.37:g.98829048C>T	ENSP00000267291:p.Arg148Gln	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	59	26	0.440678	NM_178861	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597649	0.46318	.	.	ENSG00000139797	ENST00000267291	T	0.40476	1.03	1.16	1.16	0.20824	.	0.000000	0.85682	U	0.000000	T	0.48370	0.1496	M	0.83852	2.665	0.46901	D	0.999244	D	0.53151	0.958	P	0.47744	0.556	T	0.55879	-0.8071	10	0.72032	D	0.01	.	8.184	0.31328	0.0:1.0:0.0:0.0	.	148	Q8IZP6	R113B_HUMAN	Q	148	ENSP00000267291:R148Q	ENSP00000267291:R148Q	R	-	2	0	RNF113B	97627049	1.000000	0.71417	0.981000	0.43875	0.035000	0.12851	3.538000	0.53597	0.936000	0.37367	0.484000	0.47621	CGG	.	.	none		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		T	98829048	C	T	98829048	3	4	29	1	0	0	0	0	1	0	0	0	13428	652	23	1	533	1	RNF113B	13	98829048	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	28458097	98829048	16340830	124	22478										
FLJ10357	55701	hgsc.bcm.edu	37	chr14	21550212	21550212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggaacacgtgctgctgggccGggctagggggccagacggac	19	11	0	1	rs114591848	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr14:21550212G>T	ENST00000298694.4	+	14	3312	c.3185G>T	c.(3184-3186)cGg>cTg	p.R1062L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R1062L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1062						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCTGGGCCGGGCTAGGGGG	0.667																																					p.R1062L		Atlas-SNP	.											.	ARHGEF40	84	.	0			c.G3185T						PASS	.						11	11	11					14																	21550212		2177	4255	6432	SO:0001583	missense	55701	exon14			TGGGCCGGGCTAG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3185G>T	14.37:g.21550212G>T	ENSP00000298694:p.Arg1062Leu	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	20	16	0.8	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537891	0.85917	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02682	4.25;4.2	5.54	5.54	0.83059	.	0.000000	0.49305	D	0.000156	T	0.03959	0.0111	N	0.24115	0.695	0.39374	D	0.966145	B;B;D	0.56035	0.371;0.229;0.974	P;B;P	0.46629	0.461;0.174;0.522	T	0.51260	-0.8728	10	0.62326	D	0.03	.	14.8575	0.70351	0.0:0.0:1.0:0.0	.	1062;1062;348	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	L	1062	ENSP00000298694:R1062L;ENSP00000298693:R1062L	ENSP00000298693:R1062L	R	+	2	0	ARHGEF40	20620052	0.898000	0.30612	0.982000	0.44146	0.865000	0.49528	5.132000	0.64758	2.884000	0.98904	0.655000	0.94253	CGG	G|0.997;A|0.003	.	alt		0.667	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			T	21550212	G	T	21550212	3	4	29	1	0	0	0	0	1	0	0	0	5926	1116	39	4	3239	4	FLJ10357	14	21550212	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		21550212	85799328	125	22479										
OTX2	5015	hgsc.bcm.edu	37	chr14	57268664	57268664	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgcattggtacccatgggaCtgagtgtggcccctggtccg	14	12	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr14:57268664C>G	ENST00000555006.1	-	4	1067	c.659G>C	c.(658-660)aGt>aCt	p.S220T	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Missense_Mutation_p.S228T|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S220T			P32243	OTX2_HUMAN	orthodenticle homeobox 2	220					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCATGGGACTGAGTGTGGC	0.527																																					p.S228T		Atlas-SNP	.											.	OTX2	47	.	0			c.G683C						PASS	.						128	116	120					14																	57268664		2203	4300	6503	SO:0001583	missense	5015	exon3			ATGGGACTGAGTG	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.659G>C	14.37:g.57268664C>G	ENSP00000452336:p.Ser220Thr	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	154	77	0.5	NM_001270525	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495794	0.44352	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.53	5.53	0.82687	Transcription factor Otx, C-terminal (1);	0.113525	0.39759	N	0.001270	D	0.94042	0.8091	M	0.80616	2.505	0.80722	D	1	B;D	0.56746	0.171;0.977	B;P	0.60886	0.364;0.88	D	0.93918	0.7203	10	0.59425	D	0.04	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	228;220	F1T0D1;P32243	.;OTX2_HUMAN	T	228;220;220;228	ENSP00000343819:S228T;ENSP00000386185:S220T;ENSP00000452336:S220T;ENSP00000451357:S228T	ENSP00000343819:S228T	S	-	2	0	OTX2	56338417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	AGT	.	.	none		0.527	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		G	57268664	C	G	57268664	3	3	29	1	0	0	0	0	1	0	0	0	11321	565	20	4	214	4	OTX2	14	57268664	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	35718452	57268664	50080876	126	22480										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64593362	64593362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttatttagcgctaagtgacaAgaagggtgatcttttgaaag	11	4	1	4			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr14:64593362A>G	ENST00000344113.4	+	73	13966	c.13754A>G	c.(13753-13755)aAg>aGg	p.K4585R	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1219R|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4585R|SYNE2_ENST00000357395.3_Missense_Mutation_p.K970R|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4536R|SYNE2_ENST00000394768.2_Missense_Mutation_p.K970R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4585					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAGTGACAAGAAGGGTGAT	0.478																																					p.K4585R		Atlas-SNP	.											.	SYNE2	577	.	0			c.A13754G						PASS	.						144	142	143					14																	64593362		2203	4300	6503	SO:0001583	missense	23224	exon73			GTGACAAGAAGGG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13754A>G	14.37:g.64593362A>G	ENSP00000341781:p.Lys4585Arg	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	98	54	0.55102	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227366	0.22542	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.65916	0.7;4.01;0.7;-0.18;4.06;4.01	5.87	4.62	0.57501	.	0.111585	0.38720	N	0.001585	T	0.64461	0.2600	L	0.32530	0.975	0.80722	D	1	D;D;P	0.60575	0.988;0.962;0.617	P;P;B	0.61201	0.885;0.767;0.221	T	0.62058	-0.6934	10	0.39692	T	0.17	.	10.0189	0.42031	0.903:0.0:0.097:0.0	.	970;4585;4585	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	R	4585;970;4585;4536;4536;1219;970	ENSP00000350719:K4585R;ENSP00000349969:K970R;ENSP00000341781:K4585R;ENSP00000452570:K4536R;ENSP00000450831:K1219R;ENSP00000378249:K970R	ENSP00000261678:K4536R	K	+	2	0	SYNE2	63663115	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	2.708000	0.47152	0.909000	0.36697	0.533000	0.62120	AAG	.	.	none		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64593362	A	G	64593362	3	3	29	1	0	0	0	0	1	0	0	0	15443	72	3	3	14040	3	SYNE2	14	64593362	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	7324698	64593362	42756178	127	22481										
ESR2	2100	hgsc.bcm.edu	37	chr14	64749642	64749642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgtgctccaggggtaagatgGattgactgcagttgtaggag	16	6	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr14:64749642G>A	ENST00000341099.4	-	2	479	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ESR2_ENST00000554572.1_Missense_Mutation_p.S21F|ESR2_ENST00000555278.1_Missense_Mutation_p.S21F|ESR2_ENST00000542956.1_Missense_Mutation_p.S21F|ESR2_ENST00000557772.1_Missense_Mutation_p.S21F|ESR2_ENST00000267525.6_Missense_Mutation_p.S21F|ESR2_ENST00000358599.5_Missense_Mutation_p.S21F|ESR2_ENST00000555483.1_5'Flank|ESR2_ENST00000357782.2_Missense_Mutation_p.S21F|ESR2_ENST00000553796.1_Missense_Mutation_p.S21F|ESR2_ENST00000353772.3_Missense_Mutation_p.S21F	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	21	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGGTAAGATGGATTGACTGCA	0.443																																					p.S21F		Atlas-SNP	.											.	ESR2	82	.	0			c.C62T						PASS	.						138	133	135					14																	64749642		2203	4300	6503	SO:0001583	missense	2100	exon1			AAGATGGATTGAC	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.62C>T	14.37:g.64749642G>A	ENSP00000343925:p.Ser21Phe	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	145	74	0.510345	NM_001214902	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065179	0.36470	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.91894	-2.9;-2.89;-2.85;-2.85;-2.85;-2.93;-2.91;-2.93;-2.91;-2.76;-2.46	5.56	5.56	0.83823	Estrogen receptor beta, N-terminal (1);	0.421595	0.25701	N	0.028864	D	0.95316	0.8480	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.994;0.999;0.996;0.996;0.998	D	0.90007	0.4118	10	0.48119	T	0.1	.	17.708	0.88314	0.0:0.0:1.0:0.0	.	21;21;21;21;21	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	F	21	ENSP00000452485:S21F;ENSP00000441792:S21F;ENSP00000450699:S21F;ENSP00000335551:S21F;ENSP00000351412:S21F;ENSP00000450488:S21F;ENSP00000452426:S21F;ENSP00000350427:S21F;ENSP00000451582:S21F;ENSP00000343925:S21F;ENSP00000267525:S21F	ENSP00000267525:S21F	S	-	2	0	ESR2	63819395	0.923000	0.31300	0.019000	0.16419	0.047000	0.14425	5.705000	0.68355	2.616000	0.88540	0.563000	0.77884	TCC	.	.	none		0.443	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			A	64749642	G	A	64749642	3	1	29	1	0	0	0	0	1	0	0	0	5257	1174	41	2	1648	2	ESR2	14	64749642	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	156280	64749642	42599898	128	22482										
NIPA2	81614	hgsc.bcm.edu	37	chr15	23006258	23006258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttccatttcttcgggagacaTtttcaccagtgtgttgttcg	9	9	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr15:23006258T>C	ENST00000337451.3	-	8	1658	c.1046A>G	c.(1045-1047)aAt>aGt	p.N349S	NIPA2_ENST00000539711.2_Missense_Mutation_p.N330S|NIPA2_ENST00000398013.3_Missense_Mutation_p.N349S|NIPA2_ENST00000359727.4_Missense_Mutation_p.N330S|NIPA2_ENST00000398014.2_Missense_Mutation_p.N349S	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	349						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TCGGGAGACATTTTCACCAGT	0.333																																					p.N349S		Atlas-SNP	.											.	NIPA2	49	.	0			c.A1046G						PASS	.						67	69	69					15																	23006258		2203	4299	6502	SO:0001583	missense	81614	exon10			GAGACATTTTCAC	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.1046A>G	15.37:g.23006258T>C	ENSP00000337618:p.Asn349Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	75	28	0.373333	NM_001184889	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	4.537	0.099732	0.08681	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.89343	-2.5;-2.5;-2.5	5.76	3.47	0.39725	.	0.270973	0.41712	D	0.000834	T	0.69842	0.3156	N	0.08118	0	0.23138	N	0.998235	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56420	-0.7982	10	0.02654	T	1	-7.2012	4.7	0.12822	0.0:0.2748:0.1546:0.5706	.	330;349	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	S	349;349;330;349;330	ENSP00000337618:N349S;ENSP00000381096:N349S;ENSP00000352762:N330S	ENSP00000337618:N349S	N	-	2	0	NIPA2	20557699	0.849000	0.29639	0.375000	0.26029	0.637000	0.38172	1.381000	0.34362	0.537000	0.28751	-0.274000	0.10170	AAT	.	.	none		0.333	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		C	23006258	T	C	23006258	3	2	29	1	0	0	0	0	1	0	0	0	10423	1493	52	2	40	2	NIPA2	15	23006258	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10		23006258	79525134	129	22483										
DUOX1	53905	hgsc.bcm.edu	37	chr15	45439820	45439820	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcaatggctacctgtccttcCgagagttcctggacatcctg	10	13	0	1	rs143543011		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr15:45439820C>T	ENST00000321429.4	+	20	2919	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R838*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R484*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	838	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTCCTTCCGAGAGTTCCT	0.572																																					p.R838X		Atlas-SNP	.											.	DUOX1	125	.	0			c.C2512T						PASS	.	C	stop/ARG,stop/ARG	0,4396		0,0,2198	57	51	53		2512,2512	4.4	1	15	dbSNP_134	53	1,8593	1.2+/-3.3	0,1,4296	no	stop-gained,stop-gained	DUOX1	NM_017434.3,NM_175940.1	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	838/1552,838/1552	45439820	1,12989	2198	4297	6495	SO:0001587	stop_gained	53905	exon20			TCCTTCCGAGAGT	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2512C>T	15.37:g.45439820C>T	ENSP00000317997:p.Arg838*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	98	14	0.142857	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	42	9.282840	0.99123	0.0	1.16E-4	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	5.29	4.38	0.52667	.	0.119039	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5202	6.7146	0.23296	0.175:0.7368:0.0:0.0882	.	.	.	.	X	838	.	ENSP00000317997:R838X	R	+	1	2	DUOX1	43227112	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.797000	0.38804	1.465000	0.48006	0.655000	0.94253	CGA	C|1.000;T|0.000	0.000	weak		0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		T	45439820	C	T	45439820	4	4	29	1	0	0	0	0	0	1	0	0	4800	644	23	1	2582	1	DUOX1	15	45439820	Nonsense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	22433562	45439820	57091572	130	22484										
SLC12A1	6557	hgsc.bcm.edu	37	chr15	48500287	48500287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caccggcagcatcagtgggcCcaaggtcaaccgacccagcc	11	17	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr15:48500287C>A	ENST00000558405.1	+	1	385	c.371C>A	c.(370-372)cCc>cAc	p.P124H	SLC12A1_ENST00000396577.3_Missense_Mutation_p.P124H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P124H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P124H|SLC12A1_ENST00000561031.1_Missense_Mutation_p.P124H			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	124					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCAGTGGGCCCAAGGTCAAC	0.478																																					p.P124H		Atlas-SNP	.											SLC12A1,NS,carcinoma,0,1	SLC12A1	243	1	0			c.C371A						PASS	.						89	85	86					15																	48500287		2198	4297	6495	SO:0001583	missense	6557	exon2			GTGGGCCCAAGGT		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.371C>A	15.37:g.48500287C>A	ENSP00000453409:p.Pro124His	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	46	40	0.869565	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024341	0.35701	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.95756	-3.8;-3.8;-3.8	5.58	5.58	0.84498	Amino acid permease, N-terminal (1);	0.450963	0.26019	N	0.026831	D	0.86514	0.5951	N	0.02539	-0.55	0.32795	N	0.50066	P;B	0.39071	0.658;0.0	B;B	0.41894	0.369;0.003	D	0.86476	0.1788	10	0.39692	T	0.17	.	5.6925	0.17837	0.1763:0.6718:0.0:0.1519	.	124;124	Q8IUN5;Q13621	.;S12A1_HUMAN	H	124	ENSP00000370381:P124H;ENSP00000379822:P124H;ENSP00000331550:P124H	ENSP00000331550:P124H	P	+	2	0	SLC12A1	46287579	0.988000	0.35896	1.000000	0.80357	0.939000	0.58152	1.453000	0.35167	2.624000	0.88883	0.655000	0.94253	CCC	.	.	none		0.478	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			A	48500287	C	A	48500287	3	1	29	1	0	0	0	0	1	0	0	0	14382	623	22	4	373	4	SLC12A1	15	48500287	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	3060467	48500287	54031105	131	22485										
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65370255	65370255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccgacgacttcctgcactgcGccatcgactgtctcaacctg	8	17	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr15:65370255G>A	ENST00000432196.2	+	1	1102	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	368					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CCTGCACTGCGCCATCGACTG	0.672																																					p.A368T		Atlas-SNP	.											.	KBTBD13	9	.	0			c.G1102A						PASS	.						25	26	26					15																	65370255		1921	3918	5839	SO:0001583	missense	390594	exon1			CACTGCGCCATCG		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.1102G>A	15.37:g.65370255G>A	ENSP00000388723:p.Ala368Thr	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	90	30	0.333333	NM_001101362		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532018	0.13127	.	.	ENSG00000234438	ENST00000432196	T	0.64991	-0.13	4.98	4.0	0.46444	Kelch-type beta propeller (1);	.	.	.	.	T	0.44767	0.1309	N	0.25647	0.755	0.26618	N	0.972717	B	0.13594	0.008	B	0.08055	0.003	T	0.17167	-1.0378	9	0.21540	T	0.41	.	7.5467	0.27770	0.0841:0.0:0.75:0.1659	.	368	C9JR72	KBTBD_HUMAN	T	368	ENSP00000388723:A368T	ENSP00000388723:A368T	A	+	1	0	KBTBD13	63157308	0.871000	0.30034	0.982000	0.44146	0.815000	0.46073	1.333000	0.33816	2.307000	0.77673	0.561000	0.74099	GCC	.	.	none		0.672	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		A	65370255	G	A	65370255	3	1	29	1	0	0	0	0	1	0	0	0	7992	1087	38	1	1104	1	KBTBD13	15	65370255	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	16869968	65370255	37161137	132	22486										
LMF1	64788	hgsc.bcm.edu	37	chr16	919924	919924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cagccagtccaggcggtagtGgtacggggagatgaggcagg	19	8	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr16:919924G>A	ENST00000262301.11	-	9	1393	c.1375C>T	c.(1375-1377)Cac>Tac	p.H459Y	LMF1_ENST00000568897.1_Missense_Mutation_p.H242Y|LMF1_ENST00000399843.2_Missense_Mutation_p.H459Y|LMF1_ENST00000543238.1_Missense_Mutation_p.H222Y|LMF1_ENST00000568268.1_5'Flank	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	459					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				AGGCGGTAGTGGTACGGGGAG	0.667																																					p.H459Y		Atlas-SNP	.											.	LMF1	42	.	0			c.C1375T						PASS	.						48	60	56					16																	919924		2134	4222	6356	SO:0001583	missense	64788	exon9			GGTAGTGGTACGG	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1375C>T	16.37:g.919924G>A	ENSP00000262301:p.His459Tyr	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	67	37	0.552239	NM_022773	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	37	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219622	0.58560	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25579	1.79;1.79;1.79	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.78285	2.405	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.53012	-0.8498	10	0.87932	D	0	-7.2329	17.1986	0.86900	0.0:0.0:1.0:0.0	.	459	Q96S06	LMF1_HUMAN	Y	459;459;242;213;222	ENSP00000262301:H459Y;ENSP00000382737:H459Y;ENSP00000437418:H222Y	ENSP00000262301:H459Y	H	-	1	0	LMF1	859925	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.661000	0.98601	2.406000	0.81754	0.561000	0.74099	CAC	.	.	none		0.667	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		A	919924	G	A	919924	3	1	29	1	0	0	0	0	1	0	0	0	8845	1348	47	2	340	2	LMF1	16	919924	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		919924	89434829	133	22487										
CIITA	4261	hgsc.bcm.edu	37	chr16	11000690	11000691	+	Frame_Shift_Del	DEL	TG	TG	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cggcttccccagtacgacttTgtcttctctgtcccctgcca							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr16:11000690_11000691delTG	ENST00000324288.8	+	11	1474_1475	c.1341_1342delTG	c.(1339-1344)tttgtcfs	p.V448fs	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	448	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTACGACTTTGTCTTCTCTGT	0.634			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.447_447del		Pindel,Atlas-Indel	.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA	92	.	0			c.1340_1341del						PASS	.																																			SO:0001589	frameshift_variant	4261	exon11			.	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1341_1342delTG	16.37:g.11000690_11000691delTG	ENSP00000316328:p.Val448fs	Somatic	67	.	.		WXS	Illumina HiSeq	Phase_I	73	24	0.329	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Del	DEL	ENST00000324288.8	37	CCDS10544.1																																																																																			.	.	none		0.634	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		-	11000691	TG	-	11000690	7	5	29	1	0	1	0	1	0	0	0	0	3428	1809	63	0	1383	0	CIITA	16	11000690	Frame_Shift_Del	DEL	TG	TCGA-GS-A9TT-01A-11D-A382-10	10080766	11000690	79354063	134	22488										
TAOK2	9344	hgsc.bcm.edu	37	chr16	29996996	29996996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caggagctccaggagaacccCagcactcccaagcgggagaa	12	14	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr16:29996996C>T	ENST00000308893.4	+	15	2849	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	TAOK2_ENST00000416441.2_Silent_p.P429P|TAOK2_ENST00000543033.1_Silent_p.P602P|TAOK2_ENST00000279394.3_Silent_p.P602P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	602					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						AGGAGAACCCCAGCACTCCCA	0.697																																					p.P602P		Atlas-SNP	.											TAOK2_ENST00000308893,NS,carcinoma,+2,2	TAOK2	142	2	0			c.C1806T						PASS	.						15	15	15					16																	29996996		2193	4294	6487	SO:0001819	synonymous_variant	9344	exon15			GAACCCCAGCACT	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.1806C>T	16.37:g.29996996C>T		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	27	14	0.518519	NM_004783	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																			.	.	none		0.697	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29996996	C	T	29996996	2	4	29	1	0	0	0	0	0	0	0	1	15545	581	21	2		2	TAOK2	16	29996996	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	18996306	29996996	60357757	135	22489										
PLCG2	5336	hgsc.bcm.edu	37	chr16	81819709	81819709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcttccgcaagtccacccccGagcggagaaccgtccaggtg	12	16	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr16:81819709G>A	ENST00000359376.3	+	2	329	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	39	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTCCACCCCCGAGCGGAGAAC	0.592																																					p.E39K		Atlas-SNP	.											.	PLCG2	276	.	0			c.G115A						PASS	.						56	63	61					16																	81819709		2048	4182	6230	SO:0001583	missense	5336	exon2			ACCCCCGAGCGGA		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.115G>A	16.37:g.81819709G>A	ENSP00000352336:p.Glu39Lys	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	59	29	0.491525	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583922	0.96578	.	.	ENSG00000197943	ENST00000359376	T	0.58797	0.31	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.054632	0.64402	D	0.000001	T	0.68091	0.2963	M	0.79693	2.465	0.80722	D	1	D	0.62365	0.991	P	0.47402	0.546	T	0.75494	-0.3298	10	0.66056	D	0.02	.	18.5992	0.91242	0.0:0.0:1.0:0.0	.	39	P16885	PLCG2_HUMAN	K	39	ENSP00000352336:E39K	ENSP00000352336:E39K	E	+	1	0	PLCG2	80377210	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.443000	0.97568	2.388000	0.81334	0.655000	0.94253	GAG	.	.	none		0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81819709	G	A	81819709	3	1	29	1	0	0	0	0	1	0	0	0	12036	1059	37	1	117	1	PLCG2	16	81819709	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	51822713	81819709	8535044	136	22490										
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89348402	89348402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gggccctcgtccctggacttGtctttgagcacgcggggcgg	16	13	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr16:89348402G>A	ENST00000301030.4	-	9	5008	c.4548C>T	c.(4546-4548)gaC>gaT	p.D1516D	ANKRD11_ENST00000378330.2_Silent_p.D1516D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1516	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCTGGACTTGTCTTTGAGCA	0.622																																					p.D1516D		Atlas-SNP	.											.	ANKRD11	195	.	0			c.C4548T						PASS	.						71	68	69					16																	89348402		2198	4300	6498	SO:0001819	synonymous_variant	29123	exon9			GGACTTGTCTTTG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4548C>T	16.37:g.89348402G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	156	58	0.371795	NM_001256183	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																			.	.	none		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89348402	G	A	89348402	2	1	29	1	0	0	0	0	0	0	0	1	639	1368	48	2		2	ANKRD11	16	89348402	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	7528693	89348402	1006351	137	22491										
TEKT1	83659	hgsc.bcm.edu	37	chr17	6719262	6719262	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cactgtgtcgtgcaccaggtCaatgccaatgcgcttctccc	9	15	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:6719262C>A	ENST00000338694.2	-	4	505	c.376G>T	c.(376-378)Gac>Tac	p.D126Y	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	126						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TGCACCAGGTCAATGCCAATG	0.557																																					p.D126Y		Atlas-SNP	.											.	TEKT1	49	.	0			c.G376T						PASS	.						148	93	112					17																	6719262		2203	4300	6503	SO:0001583	missense	83659	exon4			CCAGGTCAATGCC		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.376G>T	17.37:g.6719262C>A	ENSP00000341346:p.Asp126Tyr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_053285	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924476	0.52653	.	.	ENSG00000167858	ENST00000338694	T	0.05513	3.43	5.04	5.04	0.67666	.	0.048168	0.85682	D	0.000000	T	0.35393	0.0930	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47661	-0.9100	10	0.87932	D	0	.	16.2605	0.82541	0.0:1.0:0.0:0.0	.	126	Q969V4	TEKT1_HUMAN	Y	126	ENSP00000341346:D126Y	ENSP00000341346:D126Y	D	-	1	0	TEKT1	6659986	1.000000	0.71417	0.971000	0.41717	0.127000	0.20565	6.303000	0.72794	2.535000	0.85469	0.655000	0.94253	GAC	.	.	none		0.557	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		A	6719262	C	A	6719262	3	1	29	1	0	0	0	0	1	0	0	0	15749	826	29	4	900	4	TEKT1	17	6719262	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		6719262	74475948	138	22492										
MYH2	4620	hgsc.bcm.edu	37	chr17	10430004	10430004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctcggtgttggccttggacaGtgctctctgcagctcggcct	13	13	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:10430004G>A	ENST00000245503.5	-	30	4483	c.4099C>T	c.(4099-4101)Ctg>Ttg	p.L1367L	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1367L|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1367					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTTGGACAGTGCTCTCTGC	0.617																																					p.L1367L		Atlas-SNP	.											.	MYH2	390	.	0			c.C4099T						PASS	.						185	168	174					17																	10430004		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon30			TGGACAGTGCTCT		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4099C>T	17.37:g.10430004G>A		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	179	76	0.424581	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																			.	.	none		0.617	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10430004	G	A	10430004	2	1	29	1	0	0	0	0	0	0	0	1	10035	1020	36	2		2	MYH2	17	10430004	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	3710742	10430004	70765206	139	22493										
VAT1	8153	hgsc.bcm.edu	37	chr17	41174312	41174312	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggcgtcttccccggtcgctgCctcggctacctctctctcgt	10	18	3	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:41174312C>T	ENST00000587250.2	+	0	0				RND2_ENST00000544533.1_5'Flank|VAT1_ENST00000587173.1_Missense_Mutation_p.A10T|VAT1_ENST00000355653.3_Missense_Mutation_p.A10T|VAT1_ENST00000420567.3_5'Flank			P52198	RND2_HUMAN	Rho family GTPase 2						GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGGTCGCTGCCTCGGCTACC	0.711																																					p.A10T		Atlas-SNP	.											.	VAT1	19	.	0			c.G28A						PASS	.						5	5	5					17																	41174312		1687	3256	4943	SO:0001631	upstream_gene_variant	10493	exon1			TCGCTGCCTCGGC	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817		17.37:g.41174312C>T	Exception_encountered	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	23	15	0.652174	NM_006373	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	37	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372722	0.24857	.	.	ENSG00000108828	ENST00000355653;ENST00000315674	T	0.56103	0.48	3.74	3.74	0.42951	.	1.527300	0.03644	N	0.240005	T	0.35038	0.0918	N	0.08118	0	0.80722	D	1	B;B	0.33694	0.421;0.421	B;B	0.22386	0.039;0.039	T	0.04495	-1.0947	10	0.27082	T	0.32	.	14.4573	0.67425	0.0:1.0:0.0:0.0	.	10;10	B4DPX4;Q99536	.;VAT1_HUMAN	T	10	ENSP00000347872:A10T	ENSP00000326121:A10T	A	-	1	0	VAT1	38427838	0.993000	0.37304	0.963000	0.40424	0.142000	0.21351	1.476000	0.35420	1.913000	0.55393	0.555000	0.69702	GCA	.	.	none		0.711	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		T	41174312	C	T	41174312	1	4	29	0	1	0	0	0	0	0	0	0	17126	739	26	2		2	VAT1	17	41174312	5'Flank	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	30744308	41174312	40020898	140	22494										
C17orf104	284071	hgsc.bcm.edu	37	chr17	42751550	42751550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caatgaaccagagaggtgaaAcaaacaaacattaaggaaat	8	6	0	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:42751550A>G	ENST00000409122.2	+	8	2987	c.2845A>G	c.(2845-2847)Aca>Gca	p.T949A	RP11-1072C15.4_ENST00000591628.1_RNA	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	949										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GAGAGGTGAAACAAACAAACA	0.328																																					p.T949A		Atlas-SNP	.											.	C17orf104	75	.	0			c.A2845G						PASS	.						87	67	73					17																	42751550		692	1591	2283	SO:0001583	missense	284071	exon8			GGTGAAACAAACA		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2845A>G	17.37:g.42751550A>G	ENSP00000386452:p.Thr949Ala	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037054	0.02013	.	.	ENSG00000180336	ENST00000409122	T	0.29655	1.56	5.96	2.35	0.29111	.	.	.	.	.	T	0.16300	0.0392	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07966	-1.0745	9	0.25106	T	0.35	-11.6212	4.1762	0.10353	0.3833:0.0:0.4451:0.1716	.	949	A2RUB1	CQ104_HUMAN	A	949	ENSP00000386452:T949A	ENSP00000386452:T949A	T	+	1	0	C17orf104	40107076	0.371000	0.25056	1.000000	0.80357	0.990000	0.78478	0.306000	0.19279	0.714000	0.32081	-0.250000	0.11733	ACA	.	.	none		0.328	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		G	42751550	A	G	42751550	3	3	29	1	0	0	0	0	1	0	0	0	1851	43	2	2	2875	2	C17orf104	17	42751550	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	1577238	42751550	38443660	141	22495										
TOM1L1	10040	hgsc.bcm.edu	37	chr17	53007452	53007452	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agaaactctataaaacaggtCgggagatgcaggagaggatc	13	6	1	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:53007452C>A	ENST00000575882.1	+	8	1092	c.739C>A	c.(739-741)Cgg>Agg	p.R247R	TOM1L1_ENST00000348161.4_Silent_p.R170R|TOM1L1_ENST00000572158.1_Silent_p.R240R|TOM1L1_ENST00000536554.1_Silent_p.R170R|TOM1L1_ENST00000570371.1_Silent_p.R247R|TOM1L1_ENST00000575333.1_Silent_p.R247R|TOM1L1_ENST00000445275.2_Silent_p.R247R|TOM1L1_ENST00000540336.1_Silent_p.R135R	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	247	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TAAAACAGGTCGGGAGATGCA	0.423																																					p.R247R		Atlas-SNP	.											TOM1L1,caecum,carcinoma,-1,1	TOM1L1	33	1	0			c.C739A						scavenged	.						165	152	157					17																	53007452		2203	4300	6503	SO:0001819	synonymous_variant	10040	exon8			ACAGGTCGGGAGA	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.739C>A	17.37:g.53007452C>A		Somatic	103	1	0.00970874		WXS	Illumina HiSeq	Phase_I	103	41	0.398058	NM_005486	Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	CCDS11582.1																																																																																			.	.	none		0.423	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		A	53007452	C	A	53007452	2	1	29	1	0	0	0	0	0	0	0	1	16349	875	31	4		4	TOM1L1	17	53007452	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	10255902	53007452	28187758	142	22496										
TMEM49	81671	hgsc.bcm.edu	37	chr17	57915672	57915672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccagtgctgtccccggcataGgtccatctctgcagaagcca	10	15	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:57915672G>A	ENST00000262291.4	+	11	1301	c.991G>A	c.(991-993)Ggt>Agt	p.G331S	MIR21_ENST00000362134.1_RNA|VMP1_ENST00000539763.1_Missense_Mutation_p.G139S|VMP1_ENST00000545362.1_Missense_Mutation_p.G275S|VMP1_ENST00000588617.1_Splice_Site|VMP1_ENST00000537567.1_Missense_Mutation_p.G197S|VMP1_ENST00000536180.1_Missense_Mutation_p.G234S	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	331					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CCCCGGCATAGGTCCATCTCT	0.468																																					p.G331S		Atlas-SNP	.											.	VMP1	49	.	0			c.G991A						PASS	.						83	80	81					17																	57915672		2203	4300	6503	SO:0001583	missense	81671	exon11			GGCATAGGTCCAT		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.991G>A	17.37:g.57915672G>A	ENSP00000262291:p.Gly331Ser	Somatic	211	1	0.00473934		WXS	Illumina HiSeq	Phase_I	231	114	0.493506	NM_030938	B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348786	0.95807	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	L	0.56124	1.755	0.80722	D	1	P;P;P;D	0.56287	0.895;0.805;0.93;0.975	P;B;P;P	0.60173	0.839;0.333;0.54;0.87	T	0.67440	-0.5670	9	0.29301	T	0.29	-2.9829	20.422	0.99049	0.0:0.0:1.0:0.0	.	197;234;275;331	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	S	331;197;139;234;275	.	ENSP00000262291:G331S	G	+	1	0	VMP1	55270454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.832000	0.97577	0.655000	0.94253	GGT	.	.	none		0.468	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		A	57915672	G	A	57915672	3	1	29	1	0	0	0	0	1	0	0	0	16170	1000	35	2	1029	2	TMEM49	17	57915672	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	4908220	57915672	23279538	143	22497										
ACTG1	71	hgsc.bcm.edu	37	chr17	79479013	79479013	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcctccggggccacgcgcagCtcgttgtagaaggtgtggtg	16	11	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:79479013C>G	ENST00000575842.1	-	2	705	c.279G>C	c.(277-279)gaG>gaC	p.E93D	ACTG1_ENST00000575087.1_Missense_Mutation_p.E93D|ACTG1_ENST00000573283.1_Missense_Mutation_p.E93D|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.E93D|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	93					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCACGCGCAGCTCGTTGTAGA	0.617																																					p.E93D		Atlas-SNP	.											.	ACTG1	55	.	0			c.G279C						PASS	.						56	60	59					17																	79479013		2202	4300	6502	SO:0001583	missense	71	exon3			GCGCAGCTCGTTG		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.279G>C	17.37:g.79479013C>G	ENSP00000458162:p.Glu93Asp	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	101	56	0.554455	NM_001614	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388120	0.25118	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94897	-3.55	3.99	3.02	0.34903	.	0.000000	0.64402	D	0.000001	D	0.97554	0.9199	M	0.91354	3.2	0.46654	D	0.999145	P	0.39748	0.686	D	0.68353	0.957	D	0.97644	1.0150	10	0.87932	D	0	.	10.5389	0.45020	0.0:0.9026:0.0:0.0974	.	93	P63261	ACTG_HUMAN	D	93	ENSP00000331514:E93D	ENSP00000331514:E93D	E	-	3	2	ACTG1	77093608	1.000000	0.71417	0.984000	0.44739	0.011000	0.07611	4.453000	0.60061	0.903000	0.36546	-0.251000	0.11542	GAG	.	.	none		0.617	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		G	79479013	C	G	79479013	3	3	29	1	0	0	0	0	1	0	0	0	196	796	28	4	864	4	ACTG1	17	79479013	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	21563341	79479013	1716197	144	22498										
SIRT7	51547	hgsc.bcm.edu	37	chr17	79872227	79872227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgctggcagcctcggtcgcCgcttcccagttcaaaggctg	12	15	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr17:79872227C>T	ENST00000328666.6	-	7	821	c.759G>A	c.(757-759)gcG>gcA	p.A253A	PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000538721.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	253	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTCGGTCGCCGCTTCCCAGT	0.627																																					p.A253A		Atlas-SNP	.											.	SIRT7	37	.	0			c.G759A						PASS	.						48	42	44					17																	79872227		2203	4299	6502	SO:0001819	synonymous_variant	51547	exon7			GGTCGCCGCTTCC	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.759G>A	17.37:g.79872227C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	67	27	0.402985	NM_016538	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	CCDS11792.1																																																																																			.	.	none		0.627	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		T	79872227	C	T	79872227	2	4	29	1	0	0	0	0	0	0	0	1	14343	639	23	1		1	SIRT7	17	79872227	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	393214	79872227	1322983	145	22499										
SEH1L	81929	hgsc.bcm.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																					p.379_380del		Atlas-Indel	.											.	SEH1L	33	.	0			c.1136_1138del						PASS	.																																			SO:0001624	3_prime_UTR_variant	81929	exon9			.	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	123	11	0.0894309	NM_001013437	A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	CCDS45832.1																																																																																			.	.	none		0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		-	12986929	TCC	-	12986927	6	5	29	0	1	1	0	1	0	0	0	0	14009	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-GS-A9TT-01A-11D-A382-10		12986927	65090321	146	22500										
ABHD3	171586	hgsc.bcm.edu	37	chr18	19283631	19283631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cagcaccagaccgtcgggtaGtacgtttctgtaaccacggg	12	12	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr18:19283631G>A	ENST00000289119.2	-	2	379	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Y80Y	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	80						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CCGTCGGGTAGTACGTTTCTG	0.537																																					p.Y80Y		Atlas-SNP	.											.	ABHD3	32	.	0			c.C240T						PASS	.						84	78	80					18																	19283631		2203	4300	6503	SO:0001819	synonymous_variant	171586	exon2			CGGGTAGTACGTT	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.240C>T	18.37:g.19283631G>A		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	105	34	0.32381	NM_138340	B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	CCDS32802.1																																																																																			.	.	none		0.537	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			A	19283631	G	A	19283631	2	1	29	1	0	0	0	0	0	0	0	1	83	1024	36	2		2	ABHD3	18	19283631	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	6296704	19283631	58793617	147	22501										
LAMA3	3909	hgsc.bcm.edu	37	chr18	21330979	21330979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggcaacaaacatccgcttgcGttttcttagaaccaatacgc	7	12	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr18:21330979G>A	ENST00000313654.9	+	5	1023	c.782G>A	c.(781-783)cGt>cAt	p.R261H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R261H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATCCGCTTGCGTTTTCTTAGA	0.468																																					p.R261H		Atlas-SNP	.											.	LAMA3	397	.	0			c.G782A						PASS	.						116	114	115					18																	21330979		1887	4117	6004	SO:0001583	missense	3909	exon5			GCTTGCGTTTTCT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.782G>A	18.37:g.21330979G>A	ENSP00000324532:p.Arg261His	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	267	86	0.322097	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.63|13.63	2.294832|2.294832	0.40594|0.40594	.|.	.|.	ENSG00000053747|ENSG00000053747	ENST00000416669|ENST00000313654;ENST00000399516;ENST00000538801	.|T;T	.|0.76709	.|-1.04;-1.04	5.64|5.64	4.77|4.77	0.60923|0.60923	.|Laminin, N-terminal (3);	.|.	.|.	.|.	.|.	.|T	.|0.74921	.|0.3780	M|M	0.71920|0.71920	2.185|2.185	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16396	.|0.017;0.011;0.008	.|B;B;B	.|0.15052	.|0.004;0.006;0.012	.|T	.|0.70901	.|-0.4746	.|9	.|0.37606	.|T	.|0.19	.|.	11.2504|11.2504	0.49022|0.49022	0.1911:0.0:0.8089:0.0|0.1911:0.0:0.8089:0.0	.|.	.|261;261;261	.|F5H8G3;Q6VU67;Q16787	.|.;.;LAMA3_HUMAN	.|H	-1|261	.|ENSP00000324532:R261H;ENSP00000382432:R261H	.|ENSP00000324532:R261H	.|R	+|+	.|2	.|0	LAMA3|LAMA3	19584977|19584977	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.724000|0.724000	0.41520|0.41520	1.510000|1.510000	0.35790|0.35790	1.390000|1.390000	0.46547|0.46547	-0.119000|-0.119000	0.15052|0.15052	.|CGT	.	.	none		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21330979	G	A	21330979	3	1	29	1	0	0	0	0	1	0	0	0	8607	1145	40	1	800	1	LAMA3	18	21330979	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	2047348	21330979	56746269	148	22502										
DSC3	1825	hgsc.bcm.edu	37	chr18	28587034	28587034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctacatattcttgaagtattTctggtggattatcatttaca	6	6	3	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr18:28587034T>A	ENST00000360428.4	-	12	1807	c.1727A>T	c.(1726-1728)gAa>gTa	p.E576V	DSC3_ENST00000434452.1_Missense_Mutation_p.E576V	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	576	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTGAAGTATTTCTGGTGGATT	0.353																																					p.E576V		Atlas-SNP	.											.	DSC3	225	.	0			c.A1727T						PASS	.						113	104	107					18																	28587034		2203	4300	6503	SO:0001583	missense	1825	exon12			AGTATTTCTGGTG	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1727A>T	18.37:g.28587034T>A	ENSP00000353608:p.Glu576Val	Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	220	57	0.259091	NM_024423	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	t	5.327	0.245623	0.10077	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59772	0.24;0.24	5.26	-0.00853	0.14005	Cadherin (3);Cadherin-like (2);	0.240961	0.21231	N	0.077980	T	0.37100	0.0991	L	0.28740	0.885	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13683	-1.0500	10	0.26408	T	0.33	.	6.246	0.20818	0.2308:0.0:0.4129:0.3563	.	576;576	Q14574;Q14574-2	DSC3_HUMAN;.	V	576	ENSP00000353608:E576V;ENSP00000392068:E576V	ENSP00000353608:E576V	E	-	2	0	DSC3	26841032	0.004000	0.15560	0.991000	0.47740	0.314000	0.28054	0.122000	0.15687	0.426000	0.26116	-0.363000	0.07495	GAA	.	.	none		0.353	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28587034	T	A	28587034	3	1	29	1	0	0	0	0	1	0	0	0	4767	1783	62	5	1014	5	DSC3	18	28587034	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	7256055	28587034	49490214	149	22503										
MYO5B	4645	hgsc.bcm.edu	37	chr18	47518736	47518736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tggtaccttttgtcaaagccAatctggatgtacttgccaaa	8	9	2	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr18:47518736A>C	ENST00000285039.7	-	6	977	c.678T>G	c.(676-678)atT>atG	p.I226M		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	226	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCAAAGCCAATCTGGATGT	0.502																																					p.I226M		Atlas-SNP	.											.	MYO5B	178	.	0			c.T678G						PASS	.						242	227	232					18																	47518736		1969	4160	6129	SO:0001583	missense	4645	exon6			AAAGCCAATCTGG	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.678T>G	18.37:g.47518736A>C	ENSP00000285039:p.Ile226Met	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	168	39	0.232143	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517619	0.64634	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.90563	-2.69	5.65	-10.9	0.00192	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94338	0.8180	M	0.87682	2.9	0.80722	D	1	D;D	0.57257	0.979;0.979	D;P	0.66084	0.941;0.83	D	0.94766	0.7940	10	0.87932	D	0	.	22.7498	0.99975	0.3171:0.0:0.6829:0.0	.	225;226	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	M	226;225	ENSP00000285039:I226M	ENSP00000285039:I226M	I	-	3	3	MYO5B	45772734	0.552000	0.26505	0.251000	0.24312	0.946000	0.59487	-0.123000	0.10611	-2.356000	0.00613	-0.899000	0.02877	ATT	.	.	none		0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			C	47518736	A	C	47518736	3	2	29	1	0	0	0	0	1	0	0	0	10079	126	5	5	5008	5	MYO5B	18	47518736	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	18931702	47518736	30558512	150	22504										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1080926	1080926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgacccccgagctgccggtgGccgtgcccagtggaccgttc	14	16	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:1080926G>T	ENST00000313093.2	+	17	2284	c.2053G>T	c.(2053-2055)Gcc>Tcc	p.A685S	HMHA1_ENST00000590214.1_Missense_Mutation_p.A712S|HMHA1_ENST00000539243.2_Missense_Mutation_p.A701S|HMHA1_ENST00000543365.1_Missense_Mutation_p.A568S|HMHA1_ENST00000586866.1_Missense_Mutation_p.A689S|HMHA1_ENST00000536472.1_Missense_Mutation_p.A553S|HMHA1_ENST00000590577.1_Missense_Mutation_p.A320S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	685					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		GCTGCCGGTGGCCGTGCCCAG	0.706																																					p.A701S		Atlas-SNP	.											.	HMHA1	78	.	0			c.G2101T						PASS	.						14	16	16					19																	1080926		2194	4289	6483	SO:0001583	missense	23526	exon17			CCGGTGGCCGTGC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2053G>T	19.37:g.1080926G>T	ENSP00000316772:p.Ala685Ser	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	92	41	0.445652	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330792	0.41297	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.22134	2.0;2.02;1.98;1.97	3.33	3.33	0.38152	.	0.213079	0.39759	N	0.001277	T	0.26159	0.0638	L	0.58101	1.795	0.35266	D	0.780041	D;P;P;P;P	0.56287	0.975;0.939;0.9;0.884;0.816	P;P;B;B;B	0.50659	0.647;0.554;0.351;0.4;0.225	T	0.26849	-1.0091	10	0.19147	T	0.46	-16.9373	10.0523	0.42223	0.0:0.207:0.793:0.0	.	553;701;320;568;685	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	S	701;685;685;553;679;568	ENSP00000439601:A701S;ENSP00000316772:A685S;ENSP00000445109:A553S;ENSP00000438979:A568S	ENSP00000316772:A685S	A	+	1	0	HMHA1	1031926	0.984000	0.35163	0.254000	0.24359	0.156000	0.22039	1.499000	0.35671	1.871000	0.54225	0.491000	0.48974	GCC	.	.	none		0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			T	1080926	G	T	1080926	3	4	29	1	0	0	0	0	1	0	0	0	7240	1203	42	4	2119	4	HMHA1	19	1080926	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		1080926	58048057	151	22505										
OR1M1	125963	hgsc.bcm.edu	37	chr19	9204160	9204160	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gccaccaacaccatccctaaGatgctggtgagccttcaaac	7	15	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:9204160G>T	ENST00000429566.3	+	1	306	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	80						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(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCATCCCTAAGATGCTGGTGA	0.537																																					p.K80N		Atlas-SNP	.											.	OR1M1	52	.	0			c.G240T						PASS	.						95	69	78					19																	9204160		2203	4300	6503	SO:0001583	missense	125963	exon1			CCCTAAGATGCTG		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.240G>T	19.37:g.9204160G>T	ENSP00000401966:p.Lys80Asn	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	147	71	0.482993	NM_001004456	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.79	1.744634	0.30865	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	D	0.85861	-2.04	3.49	0.0484	0.14285	GPCR, rhodopsin-like superfamily (1);	0.204155	0.34223	N	0.004148	D	0.86184	0.5872	L	0.52266	1.64	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75479	-0.3303	10	0.72032	D	0.01	.	4.1085	0.10049	0.4185:0.1742:0.4073:0.0	.	80	Q8NGA1	OR1M1_HUMAN	N	83;80	ENSP00000401966:K80N	ENSP00000303195:K83N	K	+	3	2	OR1M1	9065160	0.000000	0.05858	0.927000	0.36925	0.440000	0.31957	-0.125000	0.10579	-0.000000	0.14550	0.400000	0.26472	AAG	.	.	none		0.537	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			T	9204160	G	T	9204160	3	4	29	1	0	0	0	0	1	0	0	0	10968	933	33	4	242	4	OR1M1	19	9204160	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	8123234	9204160	49924823	152	22506										
ZNF700	90592	hgsc.bcm.edu	37	chr19	12059331	12059331	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gaatatggaccaaagccataTaagtgtcaacaacctaaaaa	6	8	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:12059331T>G	ENST00000254321.5	+	4	635	c.492T>G	c.(490-492)taT>taG	p.Y164*	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.Y146*|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAAAGCCATATAAGTGTCAAC	0.413																																					p.Y167X		Atlas-SNP	.											.	ZNF700	81	.	0			c.T501G						PASS	.						140	136	137					19																	12059331		2203	4300	6503	SO:0001587	stop_gained	90592	exon4			GCCATATAAGTGT	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.492T>G	19.37:g.12059331T>G	ENSP00000254321:p.Tyr164*	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	128	65	0.507812	NM_001271848	B9EGU4	Nonsense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	t	25.0	4.596718	0.86953	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.554	0.554	0.17241	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.34	0.15979	0.0:1.0E-4:0.0:0.9999	.	.	.	.	X	164	.	ENSP00000254321:Y164X	Y	+	3	2	ZNF700	11920331	0.063000	0.20901	0.469000	0.27204	0.758000	0.43043	-0.370000	0.07523	0.450000	0.26774	0.254000	0.18369	TAT	.	.	none		0.413	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		G	12059331	T	G	12059331	4	3	29	1	0	0	0	0	0	1	0	0	18101	1413	49	5	506	5	ZNF700	19	12059331	Nonsense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	2855171	12059331	47069652	153	22507										
RFX1	5989	hgsc.bcm.edu	37	chr19	14076565	14076565	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agcaccaggatggctttgggCagtcgcttctcggcctcgtc	13	13	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:14076565C>G	ENST00000254325.4	-	15	2220	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	662					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGCTTTGGGCAGTCGCTTCT	0.612																																					p.L662L		Atlas-SNP	.											.	RFX1	63	.	0			c.G1986C						PASS	.						139	121	127					19																	14076565		2203	4300	6503	SO:0001819	synonymous_variant	5989	exon15			TTTGGGCAGTCGC		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1986G>C	19.37:g.14076565C>G		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	50	27	0.54	NM_002918		Silent	SNP	ENST00000254325.4	37	CCDS12301.1																																																																																			.	.	none		0.612	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		G	14076565	C	G	14076565	2	3	29	1	0	0	0	0	0	0	0	1	13262	697	25	4		4	RFX1	19	14076565	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	2017234	14076565	45052418	154	22508										
MYO9B	4650	hgsc.bcm.edu	37	chr19	17308611	17308612	+	Frame_Shift_Ins	INS	-	-	CG													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atctcgcagggagaggcgcaINScctccttctccacgagcgac							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:17308611_17308612insCG	ENST00000594824.1	+	23	4204_4205	c.4057_4058insCG	c.(4057-4059)accfs	p.T1353fs	MYO9B_ENST00000595618.1_Frame_Shift_Ins_p.T1353fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.T1353fs			Q13459	MYO9B_HUMAN	myosin IXB	1353	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGAGAGGCGCACCTCCTTCTCC	0.515																																					p.T1353fs		Pindel,Atlas-Indel	.											.	MYO9B	264	.	0			c.4057_4058insCG						PASS	.																																			SO:0001589	frameshift_variant	4650	exon23			.		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		Exception_encountered	19.37:g.17308611_17308612insCG	ENSP00000471367:p.Thr1353fs	Somatic	58	.	.		WXS	Illumina HiSeq	Phase_I	50	13	0.26	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Frame_Shift_Ins	INS	ENST00000594824.1	37																																																																																				.	.	none		0.515	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			CG	17308612	-	CG	17308611	7	5	29	1	0	1	1	0	0	0	0	0	10085	159	6	0	4143	0	MYO9B	19	17308611	Frame_Shift_Ins	INS	-	TCGA-GS-A9TT-01A-11D-A382-10	3232046	17308611	41820372	155	22509										
CILP2	148113	hgsc.bcm.edu	37	chr19	19656250	19656250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggggcagccacccacgcaccCgcggccagctctacggactt	12	18	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:19656250C>T	ENST00000291495.5	+	8	2981	c.2896C>T	c.(2896-2898)Cgc>Tgc	p.R966C	CILP2_ENST00000586018.1_Missense_Mutation_p.R972C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	966						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCACGCACCCGCGGCCAGCT	0.677																																					p.R966C		Atlas-SNP	.											.	CILP2	84	.	0			c.C2896T						PASS	.						16	18	17					19																	19656250		2196	4294	6490	SO:0001583	missense	148113	exon8			CGCACCCGCGGCC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2896C>T	19.37:g.19656250C>T	ENSP00000291495:p.Arg966Cys	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300104	0.23650	.	.	ENSG00000160161	ENST00000291495	T	0.10192	2.9	5.79	4.73	0.59995	.	0.632272	0.16163	N	0.226641	T	0.11836	0.0288	L	0.46157	1.445	0.09310	N	0.999999	P;P	0.50819	0.939;0.939	B;B	0.42522	0.326;0.39	T	0.14282	-1.0478	10	0.54805	T	0.06	-8.0753	9.6471	0.39875	0.1599:0.6858:0.1543:0.0	.	966;966	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	966	ENSP00000291495:R966C	ENSP00000291495:R966C	R	+	1	0	CILP2	19517250	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.965000	0.29319	1.419000	0.47118	0.555000	0.69702	CGC	.	.	none		0.677	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19656250	C	T	19656250	3	4	29	1	0	0	0	0	1	0	0	0	3430	652	23	1	2926	1	CILP2	19	19656250	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	2347639	19656250	39472733	156	22510										
ZNF493	284443	hgsc.bcm.edu	37	chr19	21607740	21607740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ttcacatcttagtagacataAgataattcatattggaattc	5	6	3	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:21607740A>C	ENST00000355504.4	+	2	2161	c.1895A>C	c.(1894-1896)aAg>aCg	p.K632T	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K760T	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTAGACATAAGATAATTCAT	0.368																																					p.K760T		Atlas-SNP	.											.	ZNF493	178	.	0			c.A2279C						PASS	.						46	49	48					19																	21607740		2203	4298	6501	SO:0001583	missense	284443	exon4			GACATAAGATAAT	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1895A>C	19.37:g.21607740A>C	ENSP00000347691:p.Lys632Thr	Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	143	65	0.454545	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.22	1.573663	0.28092	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.28454	1.61;1.61	1.17	-0.519	0.11939	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22666	0.0547	L	0.31476	0.935	0.20196	N	0.99993	P;B	0.39404	0.672;0.041	B;B	0.42495	0.389;0.031	T	0.22382	-1.0218	9	0.72032	D	0.01	.	5.2131	0.15329	0.7454:0.0:0.0:0.2546	.	632;760	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	T	760;632	ENSP00000376110:K760T;ENSP00000347691:K632T	ENSP00000347691:K632T	K	+	2	0	ZNF493	21399580	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	0.259000	0.18405	0.474000	0.27392	0.332000	0.21555	AAG	.	.	none		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		C	21607740	A	C	21607740	3	2	29	1	0	0	0	0	1	0	0	0	17941	72	3	5	2356	5	ZNF493	19	21607740	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	1951490	21607740	37521243	157	22511										
ZNF43	7594	hgsc.bcm.edu	37	chr19	21991819	21991819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cattcttcacatgtgtagggTttctctccagtatgaattct	7	9	4	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:21991819T>G	ENST00000354959.4	-	4	1189	c.1020A>C	c.(1018-1020)aaA>aaC	p.K340N	ZNF43_ENST00000598381.1_Missense_Mutation_p.K334N|ZNF43_ENST00000594012.1_Missense_Mutation_p.K334N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K334N	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTGTAGGGTTTCTCTCCAG	0.383																																					p.K349N		Atlas-SNP	.											.	ZNF43	152	.	0			c.A1047C						PASS	.						51	54	53					19																	21991819		2203	4297	6500	SO:0001583	missense	7594	exon4			GTAGGGTTTCTCT	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1020A>C	19.37:g.21991819T>G	ENSP00000347045:p.Lys340Asn	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	74	28	0.378378	NM_001256653	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068339	0.36470	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.26067	1.76	1.76	-1.03	0.10102	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38480	0.1042	M	0.84511	2.7	0.28494	N	0.914327	P	0.45715	0.865	P	0.49665	0.618	T	0.35450	-0.9788	9	0.87932	D	0	.	6.1831	0.20482	0.0:0.4532:0.0:0.5468	.	340	P17038	ZNF43_HUMAN	N	339;340	ENSP00000347045:K340N	ENSP00000347045:K340N	K	-	3	2	ZNF43	21783659	0.187000	0.23238	0.000000	0.03702	0.039000	0.13416	-0.311000	0.08124	-0.521000	0.06426	0.254000	0.18369	AAA	.	.	none		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		G	21991819	T	G	21991819	3	3	29	1	0	0	0	0	1	0	0	0	17900	1722	60	5	1413	5	ZNF43	19	21991819	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	384079	21991819	37137164	158	22512										
ADCK4	79934	hgsc.bcm.edu	37	chr19	41216028	41216028	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gccagtactcctagccccaaGcccacagccagtcctggagt	9	17	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:41216028G>T	ENST00000324464.3	-	5	604	c.303C>A	c.(301-303)ggC>ggA	p.G101G	ADCK4_ENST00000450541.1_Silent_p.G101G|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000243583.6_Silent_p.G101G	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	101						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTAGCCCCAAGCCCACAGCCA	0.577																																					p.G101G		Atlas-SNP	.											.	ADCK4	92	.	0			c.C303A						PASS	.						98	79	85					19																	41216028		2203	4300	6503	SO:0001819	synonymous_variant	79934	exon5			CCCCAAGCCCACA	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.303C>A	19.37:g.41216028G>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	117	75	0.641026	NM_001142555	Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	CCDS12562.1																																																																																			.	.	none		0.577	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		T	41216028	G	T	41216028	2	4	29	1	0	0	0	0	0	0	0	1	290	958	34	4		4	ADCK4	19	41216028	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	19224209	41216028	17912955	159	22513										
POU2F2	5452	hgsc.bcm.edu	37	chr19	42600043	42600043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atggtcgtctggctgaagtcGttgccgtagagcttgcccat	13	10	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:42600043G>A	ENST00000526816.2	-	9	717	c.702C>T	c.(700-702)aaC>aaT	p.N234N	POU2F2_ENST00000342301.4_Silent_p.N234N|POU2F2_ENST00000529067.1_Silent_p.N218N|POU2F2_ENST00000389341.5_Silent_p.N218N|POU2F2_ENST00000560398.1_Silent_p.N240N|POU2F2_ENST00000533720.1_Silent_p.N218N|POU2F2_ENST00000560558.1_Silent_p.N179N|POU2F2_ENST00000529952.1_Silent_p.N234N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	234	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGCTGAAGTCGTTGCCGTAGA	0.637																																					p.N234N		Atlas-SNP	.											.	POU2F2	106	.	0			c.C702T						PASS	.						114	114	114					19																	42600043		2203	4300	6503	SO:0001819	synonymous_variant	5452	exon9			GAAGTCGTTGCCG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.702C>T	19.37:g.42600043G>A		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	116	28	0.241379	NM_001207025	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	CCDS56095.1																																																																																			.	.	none		0.637	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42600043	G	A	42600043	2	1	29	1	0	0	0	0	0	0	0	1	12272	1136	40	1		1	POU2F2	19	42600043	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1384015	42600043	16528940	160	22514										
FOXA3	3171	hgsc.bcm.edu	37	chr19	46375993	46375993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ctgcctcgaccaccacccccGcggccacagtcacctccccg	7	24	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:46375993G>A	ENST00000302177.2	+	2	927	c.730G>A	c.(730-732)Gcg>Acg	p.A244T		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	244					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CACCACCCCCGCGGCCACAGT	0.697																																					p.A244T		Atlas-SNP	.											.	FOXA3	19	.	0			c.G730A						PASS	.						5	7	6					19																	46375993		2062	4117	6179	SO:0001583	missense	3171	exon2			ACCCCCGCGGCCA	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.730G>A	19.37:g.46375993G>A	ENSP00000304004:p.Ala244Thr	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	36	23	0.638889	NM_004497	A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.884804	0.02530	.	.	ENSG00000170608	ENST00000302177	D	0.91521	-2.86	3.31	-0.315	0.12746	.	1.202840	0.06199	N	0.682958	T	0.79845	0.4516	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.62973	-0.6740	10	0.13470	T	0.59	.	3.8218	0.08839	0.2781:0.3989:0.323:0.0	.	244	P55318	FOXA3_HUMAN	T	244	ENSP00000304004:A244T	ENSP00000304004:A244T	A	+	1	0	FOXA3	51067833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.193000	0.09573	0.005000	0.14708	-0.476000	0.04901	GCG	.	.	none		0.697	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			A	46375993	G	A	46375993	3	1	29	1	0	0	0	0	1	0	0	0	5991	1087	38	1	736	1	FOXA3	19	46375993	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	3775950	46375993	12752990	161	22515										
PPP5C	5536	hgsc.bcm.edu	37	chr19	46878959	46878959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tttgagcgggccatcgcgggCgacgagcacaagcgctccgt	15	13	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:46878959C>T	ENST00000012443.4	+	3	565	c.462C>T	c.(460-462)ggC>ggT	p.G154G	PPP5C_ENST00000391919.1_Silent_p.G48G	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	154					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCATCGCGGGCGACGAGCACA	0.582																																					p.G154G		Atlas-SNP	.											PPP5C,NS,carcinoma,0,1	PPP5C	44	1	0			c.C462T						PASS	.						60	49	53					19																	46878959		2203	4299	6502	SO:0001819	synonymous_variant	5536	exon3			CGCGGGCGACGAG		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.462C>T	19.37:g.46878959C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	109	67	0.614679	NM_006247	Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	CCDS12684.1																																																																																			.	.	none		0.582	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		T	46878959	C	T	46878959	2	4	29	1	0	0	0	0	0	0	0	1	12406	755	27	1		1	PPP5C	19	46878959	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	502966	46878959	12250024	162	22516										
FGF21	26291	hgsc.bcm.edu	37	chr19	49261218	49261218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccctgaggcctgcagcttccGggagctgcttcttgaggacg	14	13	1	2	rs142980324		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:49261218G>A	ENST00000593756.1	+	4	943	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	FGF21_ENST00000222157.3_Missense_Mutation_p.R124Q|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	124					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGCAGCTTCCGGGAGCTGCTT	0.582																																					p.R124Q		Atlas-SNP	.											.	FGF21	21	.	0			c.G371A						PASS	.	G	GLN/ARG	0,4402		0,0,2201	158	173	168		371	3.4	1	19	dbSNP_134	168	4,8592	3.7+/-12.6	0,4,4294	yes	missense	FGF21	NM_019113.2	43	0,4,6495	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	124/210	49261218	4,12994	2201	4298	6499	SO:0001583	missense	26291	exon3			GCTTCCGGGAGCT	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.371G>A	19.37:g.49261218G>A	ENSP00000471477:p.Arg124Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	151	94	0.622517	NM_019113	Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814192	0.70912	0.0	4.65E-4	ENSG00000105550	ENST00000222157	D	0.81579	-1.51	4.44	3.4	0.38934	.	0.076506	0.49916	D	0.000128	T	0.80969	0.4726	M	0.74258	2.255	0.37112	D	0.900381	D	0.53745	0.962	P	0.48270	0.572	T	0.82814	-0.0271	10	0.46703	T	0.11	-15.5157	8.3528	0.32312	0.1087:0.0:0.8913:0.0	.	124	Q9NSA1	FGF21_HUMAN	Q	124	ENSP00000222157:R124Q	ENSP00000222157:R124Q	R	+	2	0	FGF21	53953030	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.173000	0.31920	1.220000	0.43490	0.511000	0.50034	CGG	G|1.000;A|0.000	0.000	weak		0.582	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			A	49261218	G	A	49261218	3	1	29	1	0	0	0	0	1	0	0	0	5850	1116	39	1	381	1	FGF21	19	49261218	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	2382259	49261218	9867765	163	22517										
LILRA2	11027	hgsc.bcm.edu	37	chr19	55086869	55086869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtgacttcctccagcgccctGgttggcagccccaggctggg	14	15	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:55086869G>T	ENST00000251377.3	+	6	935	c.802G>T	c.(802-804)Ggt>Tgt	p.G268C	LILRA2_ENST00000251376.3_Missense_Mutation_p.G268C|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G268C|LILRA2_ENST00000391737.1_Missense_Mutation_p.G256C|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	268	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCAGCGCCCTGGTTGGCAGCC	0.627																																					p.G268C		Atlas-SNP	.											.	LILRA2	99	.	0			c.G802T						PASS	.						79	77	78					19																	55086869		2203	4300	6503	SO:0001583	missense	11027	exon5			CGCCCTGGTTGGC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.802G>T	19.37:g.55086869G>T	ENSP00000251377:p.Gly268Cys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	135	47	0.348148	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722701	0.30503	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00745	5.75;5.75;5.75;5.75;5.75	2.26	-0.112	0.13572	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.720370	0.01616	N	0.022766	T	0.06554	0.0168	H	0.95224	3.64	0.09310	N	1	B;D;D;D	0.89917	0.239;1.0;1.0;1.0	B;D;D;D	0.79108	0.2;0.992;0.992;0.987	T	0.27773	-1.0064	10	0.72032	D	0.01	.	2.6785	0.05087	0.1735:0.0:0.5315:0.295	.	268;256;268;268	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	C	268;268;268;268;256	ENSP00000388131:G268C;ENSP00000251377:G268C;ENSP00000375618:G268C;ENSP00000251376:G268C;ENSP00000375617:G256C	ENSP00000251376:G268C	G	+	1	0	LILRA2	59778681	.	.	0.000000	0.03702	0.012000	0.07955	.	.	0.034000	0.15491	0.400000	0.26472	GGT	.	.	none		0.627	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55086869	G	T	55086869	3	4	29	1	0	0	0	0	1	0	0	0	8785	1348	47	4	820	4	LILRA2	19	55086869	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	5825651	55086869	4042114	164	22518										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	363	57	0.157025	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	29	1	0	0	0	0	1	0	0	0	18173	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	3298921	58385790	743193	165	22519	456	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	348	54	0.155172	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	29	1	0	0	0	0	1	0	0	0	18173	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	3	58385793	743190	166	22520	456	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						scavenged	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	327	55	0.168196	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	29	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	5	58385798	743185	167	22521	456	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						PASS	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	324	53	0.16358	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	29	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	1	58385799	743184	168	22522	456	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385869	58385869	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tttcccacattctccacattCatgttttttttcagtgtgaa	4	10	3	1	rs199684163|rs10687775|rs55789144|rs66767659	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr19:58385869C>A	ENST00000435989.2	-	3	1123	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTT	0.363																																					p.E297X		Atlas-SNP	.											ZNF814,NS,carcinoma,0,1	ZNF814	93	1	0			c.G889T						scavenged	.						5	4	5					19																	58385869		591	1308	1899	SO:0001587	stop_gained	730051	exon3			CACATTCATGTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.889G>T	19.37:g.58385869C>A	ENSP00000410545:p.Glu297*	Somatic	277	0	0		WXS	Illumina HiSeq	Phase_I	142	19	0.133803	NM_001144989	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839119	0.91117	.	.	ENSG00000204514	ENST00000435989	.	.	.	1.93	-3.87	0.04218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6944	0.00896	0.1754:0.2303:0.1739:0.4204	.	.	.	.	X	297	.	ENSP00000410545:E297X	E	-	1	0	ZNF814	63077681	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-0.792000	0.04594	-0.856000	0.04120	0.121000	0.15741	GAA	.	.	weak		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385869	C	A	58385869	4	1	29	1	0	0	0	0	0	1	0	0	18173	835	29	4	1682	4	ZNF814	19	58385869	Nonsense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	70	58385869	743114	169	22523										
C20orf194	25943	hgsc.bcm.edu	37	chr20	3302910	3302910	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cactgtccagcggtacaattCtaggaggggaaagagatgga	14	7	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:3302910C>A	ENST00000252032.9	-	16	1378		c.e16-1		C20orf194_ENST00000453730.2_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CGGTACAATTCTAGGAGGGGA	0.418																																					.		Atlas-SNP	.											.	C20orf194	83	.	0			c.1311-1G>T						PASS	.						80	74	76					20																	3302910		1877	4105	5982	SO:0001630	splice_region_variant	25943	exon17			ACAATTCTAGGAG	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1311-1G>T	20.37:g.3302910C>A		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	44	17	0.386364	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387063	0.61956	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0876	0.72167	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3250910	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.403000	0.59729	2.622000	0.88805	0.655000	0.94253	.	.	.	none		0.418	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Intron	A	3302910	C	A	3302910	5	1	29	1	0	0	0	0	0	0	1	0	2099	927	32	4	2311	4	C20orf194	20	3302910	Splice_Site	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		3302910	59722610	170	22524										
SEL1L2	80343	hgsc.bcm.edu	37	chr20	13866955	13866955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgtatctgaacatctcctctTtctgccaaaaatttatagta	4	9	4	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:13866955T>A	ENST00000284951.5	-	9	953	c.879A>T	c.(877-879)gaA>gaT	p.E293D	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E293D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	293						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATCTCCTCTTTCTGCCAAAA	0.358																																					p.E293D		Atlas-SNP	.											.	SEL1L2	103	.	0			c.A879T						PASS	.						138	126	130					20																	13866955		1826	4081	5907	SO:0001583	missense	80343	exon9			TCCTCTTTCTGCC	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.879A>T	20.37:g.13866955T>A	ENSP00000284951:p.Glu293Asp	Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	197	89	0.451777	NM_001271539	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	T	13.98	2.397408	0.42512	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.54479	0.57;0.57	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	T	0.49372	0.1553	N	0.12637	0.245	0.37334	D	0.910102	B;D	0.64830	0.086;0.994	B;D	0.70716	0.05;0.97	T	0.48885	-0.8995	10	0.07813	T	0.8	-26.0605	12.5063	0.55984	0.0:0.0:0.0:1.0	.	293;293	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	293	ENSP00000367312:E293D;ENSP00000284951:E293D	ENSP00000284951:E293D	E	-	3	2	SEL1L2	13814955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	2.205000	0.71048	0.454000	0.30748	GAA	.	.	none		0.358	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13866955	T	A	13866955	3	1	29	1	0	0	0	0	1	0	0	0	14011	1838	64	5	1235	5	SEL1L2	20	13866955	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	10564045	13866955	49158565	171	22525										
FOXS1	2307	hgsc.bcm.edu	37	chr20	30433068	30433068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	cgtggcagtcagggtccagcGtccagtagctgcccttgcct	13	14	1	0	rs140637242		TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:30433068G>A	ENST00000375978.3	-	1	352	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	93					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGGGTCCAGCGTCCAGTAGCT	0.667																																					p.T93M		Atlas-SNP	.											.	FOXS1	29	.	0			c.C278T						PASS	.	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	70	58	62		278	5	1	20	dbSNP_134	62	0,8600		0,0,4300	no	missense	FOXS1	NM_004118.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	93/331	30433068	2,13004	2203	4300	6503	SO:0001583	missense	2307	exon1			TCCAGCGTCCAGT	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.278C>T	20.37:g.30433068G>A	ENSP00000365145:p.Thr93Met	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	44	18	0.409091	NM_004118	Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541894	0.85917	4.54E-4	0.0	ENSG00000179772	ENST00000375978	D	0.95788	-3.81	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.49916	D	0.000130	D	0.95909	0.8668	L	0.53617	1.68	0.80722	D	1	D	0.61080	0.989	P	0.54312	0.748	D	0.96332	0.9244	10	0.87932	D	0	.	16.9787	0.86321	0.0:0.0:1.0:0.0	.	93	O43638	FOXS1_HUMAN	M	93	ENSP00000365145:T93M	ENSP00000365145:T93M	T	-	2	0	FOXS1	29896729	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.657000	0.98554	2.605000	0.88082	0.555000	0.69702	ACG	G|1.000;A|0.000	0.000	weak		0.667	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		A	30433068	G	A	30433068	3	1	29	1	0	0	0	0	1	0	0	0	6035	1145	40	1	718	1	FOXS1	20	30433068	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	16566113	30433068	32592452	172	22526										
NECAB3	63941	hgsc.bcm.edu	37	chr20	32246320	32246320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atcctgccagaactcatacaGggtgaaggaggcaccgtcca	11	12	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:32246320G>T	ENST00000246190.6	-	10	1088	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Missense_Mutation_p.L311M|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	345	ABM.				protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						AACTCATACAGGGTGAAGGAG	0.627																																					p.L345M		Atlas-SNP	.											.	NECAB3	27	.	0			c.C1033A						PASS	.						158	168	165					20																	32246320		2078	4218	6296	SO:0001583	missense	63941	exon10			CATACAGGGTGAA	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1033C>A	20.37:g.32246320G>T	ENSP00000246190:p.Leu345Met	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	69	39	0.565217	NM_031232	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670715	0.29693	.	.	ENSG00000125967	ENST00000375238;ENST00000246190	T;T	0.31510	1.49;1.49	5.01	1.96	0.26148	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.150264	0.45867	D	0.000337	T	0.38241	0.1033	L	0.41824	1.3	0.43787	D	0.996328	D;P;B	0.67145	0.996;0.688;0.348	D;P;B	0.74348	0.983;0.525;0.28	T	0.06534	-1.0821	10	0.32370	T	0.25	-16.9783	6.7897	0.23693	0.16:0.1438:0.6962:0.0	.	222;345;311	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	M	311;345	ENSP00000364386:L311M;ENSP00000246190:L345M	ENSP00000246190:L345M	L	-	1	2	NECAB3	31709981	1.000000	0.71417	0.739000	0.30968	0.373000	0.29922	1.387000	0.34430	0.157000	0.19338	0.561000	0.74099	CTG	.	.	none		0.627	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			T	32246320	G	T	32246320	3	4	29	1	0	0	0	0	1	0	0	0	10306	991	35	4	169	4	NECAB3	20	32246320	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	1813252	32246320	30779200	173	22527										
EIF2S2	8894	hgsc.bcm.edu	37	chr20	32677684	32677684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcaggattgtgtccggtgatCggcatgtgtgacaagtgaca	15	7	0	3			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:32677684C>T	ENST00000374980.2	-	9	1075	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	285					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GTCCGGTGATCGGCATGTGTG	0.448																																					p.R285Q		Atlas-SNP	.											EIF2S2,NS,carcinoma,-1,3	EIF2S2	32	3	0			c.G854A						PASS	.						139	118	125					20																	32677684		2203	4300	6503	SO:0001583	missense	8894	exon9			GGTGATCGGCATG	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.854G>A	20.37:g.32677684C>T	ENSP00000364119:p.Arg285Gln	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	78	33	0.423077	NM_003908	Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436758	0.96168	.	.	ENSG00000125977	ENST00000374980	T	0.48201	0.82	6.07	6.07	0.98685	Translation initiation factor IF2/IF5, zinc-binding (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.54965	1.715	0.80722	D	1	P;D;D	0.69078	0.784;0.997;0.997	B;D;D	0.72982	0.19;0.979;0.979	T	0.65479	-0.6158	10	0.66056	D	0.02	-8.2387	20.6439	0.99570	0.0:1.0:0.0:0.0	.	285;285;285	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	Q	285	ENSP00000364119:R285Q	ENSP00000364119:R285Q	R	-	2	0	EIF2S2	32141345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	2.884000	0.98904	0.655000	0.94253	CGA	.	.	none		0.448	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		T	32677684	C	T	32677684	3	4	29	1	0	0	0	0	1	0	0	0	5010	884	31	1	151	1	EIF2S2	20	32677684	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	431364	32677684	30347836	174	22528										
STX16	8675	hgsc.bcm.edu	37	chr20	57227165	57227165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tgagtagtcacatcacctccAgccctctgcattcacgtagc	7	15	4	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:57227165A>G	ENST00000371141.4	+	1	827	c.103A>G	c.(103-105)Agc>Ggc	p.S35G	STX16_ENST00000358029.4_Missense_Mutation_p.S35G|STX16_ENST00000361770.5_Intron|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Intron|STX16_ENST00000361830.3_Missense_Mutation_p.S35G|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.S35G|STX16_ENST00000359617.4_5'UTR|STX16_ENST00000355957.5_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	35					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CATCACCTCCAGCCCTCTGCA	0.567																																					p.S35G		Atlas-SNP	.											.	STX16	36	.	0			c.A103G						PASS	.						100	82	88					20																	57227165		2203	4300	6503	SO:0001583	missense	8675	exon1			ACCTCCAGCCCTC	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.103A>G	20.37:g.57227165A>G	ENSP00000360183:p.Ser35Gly	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	32	18	0.5625	NM_001134772	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828198	0.50845	.	.	ENSG00000124222	ENST00000371141;ENST00000358029;ENST00000361830	T;T;T	0.47177	0.87;0.85;0.87	4.81	4.81	0.61882	.	0.097247	0.41396	U	0.000888	T	0.29749	0.0743	N	0.22421	0.69	0.80722	D	1	B;B	0.32620	0.063;0.378	B;B	0.29785	0.039;0.107	T	0.10019	-1.0648	10	0.19590	T	0.45	.	9.9808	0.41813	0.8301:0.1699:0.0:0.0	.	35;35	Q6GMS8;O14662	.;STX16_HUMAN	G	35	ENSP00000360183:S35G;ENSP00000350723:S35G;ENSP00000354445:S35G	ENSP00000432101:S35G	S	+	1	0	STX16	56660571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.061000	0.71148	2.018000	0.59344	0.533000	0.62120	AGC	.	.	none		0.567	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		G	57227165	A	G	57227165	3	3	29	1	0	0	0	0	1	0	0	0	15338	188	7	3	105	3	STX16	20	57227165	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	24549481	57227165	5798355	175	22529										
PRIC285	85441	hgsc.bcm.edu	37	chr20	62195768	62195768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggcagctcacggccggcaccCgggtgctgcctgatcacctc	13	17	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr20:62195768C>T	ENST00000467148.1	-	8	4476	c.4407G>A	c.(4405-4407)ccG>ccA	p.P1469P	HELZ2_ENST00000427522.2_Silent_p.P900P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1469					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCCGGCACCCGGGTGCTGCC	0.711																																					p.P1469P		Atlas-SNP	.											.	.	.	.	0			c.G4407A						PASS	.						5	5	5					20																	62195768		2046	4119	6165	SO:0001819	synonymous_variant	85441	exon9			GGCACCCGGGTGC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4407G>A	20.37:g.62195768C>T		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	21	12	0.571429	NM_001037335	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			.	.	none		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62195768	C	T	62195768	2	4	29	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62195768	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	4968603	62195768	829752	176	22530										
NCAM2	4685	hgsc.bcm.edu	37	chr21	22656515	22656515	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tttccatggctctttgcagcGattggtgaacctgaaagtat	10	8	1	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr21:22656515G>A	ENST00000400546.1	+	3	381	c.132G>A	c.(130-132)gcG>gcA	p.A44A	NCAM2_ENST00000535285.1_Splice_Site_p.A69A|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	44	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTTTGCAGCGATTGGTGAAC	0.328																																					p.A44A		Atlas-SNP	.											.	NCAM2	220	.	0			c.G132A						PASS	.						101	90	94					21																	22656515		1827	4072	5899	SO:0001630	splice_region_variant	4685	exon3			TGCAGCGATTGGT		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.131-1G>A	21.37:g.22656515G>A		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	81	43	0.530864	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																			.	.	none		0.328	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	Silent	A	22656515	G	A	22656515	5	1	29	1	0	0	0	0	0	0	1	0	10203	1072	37	1	142	1	NCAM2	21	22656515	Splice_Site	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		22656515	25473380	177	22531										
TIAM1	7074	hgsc.bcm.edu	37	chr21	32617950	32617950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gtctatcccagacctgccgtCgctctcgtagaaaaatagcg	9	13	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr21:32617950C>T	ENST00000286827.3	-	7	1909	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	TIAM1_ENST00000541036.1_Missense_Mutation_p.D480N|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	480	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GACCTGCCGTCGCTCTCGTAG	0.527																																					p.D480N		Atlas-SNP	.											.	TIAM1	522	.	0			c.G1438A						PASS	.						72	63	66					21																	32617950		2203	4300	6503	SO:0001583	missense	7074	exon7			TGCCGTCGCTCTC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1438G>A	21.37:g.32617950C>T	ENSP00000286827:p.Asp480Asn	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	99	51	0.515152	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376098	0.82682	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	N	0.17474	0.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.989;0.994;0.994;0.994	T	0.32745	-0.9895	10	0.41790	T	0.15	.	18.9723	0.92719	0.0:1.0:0.0:0.0	.	480;480;321;480	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	N	480;321;480	ENSP00000286827:D480N;ENSP00000441570:D480N	ENSP00000286827:D480N	D	-	1	0	TIAM1	31539821	1.000000	0.71417	0.363000	0.25875	0.950000	0.60333	7.628000	0.83189	2.717000	0.92951	0.650000	0.86243	GAC	.	.	none		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32617950	C	T	32617950	3	4	29	1	0	0	0	0	1	0	0	0	15887	884	31	1	3429	1	TIAM1	21	32617950	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	9961435	32617950	15511945	178	22532										
DGCR8	54487	hgsc.bcm.edu	37	chr22	20079074	20079074	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atcgggaaatgaagcggaagCaggcggagtccgagaggccc	17	9	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:20079074C>T	ENST00000351989.3	+	6	1852	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.Q475*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.Q475*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	475	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GAAGCGGAAGCAGGCGGAGTC	0.478																																					p.Q475X		Atlas-SNP	.											.	DGCR8	53	.	0			c.C1423T						PASS	.						157	174	168					22																	20079074		2203	4300	6503	SO:0001587	stop_gained	54487	exon6			CGGAAGCAGGCGG	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1423C>T	22.37:g.20079074C>T	ENSP00000263209:p.Gln475*	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	56	28	0.5	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	42	9.193922	0.99096	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	4.62	4.62	0.57501	.	0.058892	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-13.2898	17.2464	0.87029	0.0:1.0:0.0:0.0	.	.	.	.	X	475	.	ENSP00000263209:Q475X	Q	+	1	0	DGCR8	18459074	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	5.593000	0.67550	2.380000	0.81148	0.591000	0.81541	CAG	.	.	none		0.478	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			T	20079074	C	T	20079074	4	4	29	1	0	0	0	0	0	1	0	0	4464	711	25	2	1441	2	DGCR8	22	20079074	Nonsense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10		20079074	31225492	179	22533										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230309	23230310	+	In_Frame_Ins	INS	-	-	TTT													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcccaggcagcgctggccccINStgctgctgctgggtctggcc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23230309_23230310insTTT	ENST00000526893.1	+	1	350_351	c.76_77insTTT	c.(76-78)ctg>cTTTtg	p.26_26L>LL	IGLL5_ENST00000531372.1_In_Frame_Ins_p.26_26L>LL|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_In_Frame_Ins_p.26_26L>LL	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	26						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCGCTGGCCCCTGCTGCTGCTG	0.663																																					p.L26delinsLL		Pindel,Atlas-Indel	.											.	IGLL5	26	.	0			c.76_77insTTT						PASS	.																																			SO:0001652	inframe_insertion	100423062	exon1			.	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	Exception_encountered	22.37:g.23230309_23230310insTTT	ENSP00000431254:p.Leu29dup	Somatic	100	.	.		WXS	Illumina HiSeq	Phase_I	116	22	0.19	NM_001178126		In_Frame_Ins	INS	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.663	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		TTT	23230310	-	TTT	23230309	7	5	29	1	0	1	1	0	0	0	0	0	7594	680	24	0	78	0	IGLL5	22	23230309	In_Frame_Ins	INS	-	TCGA-GS-A9TT-01A-11D-A382-10	3151235	23230309	28074257	180	22534			3	99		4	4	95	N	T_G_-	2.722828e-11
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230323	23230323	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tggcccctgctgctgctgggTctggccatggtcgcccatgg	15	14	1	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23230323T>C	ENST00000526893.1	+	1	364	c.90T>C	c.(88-90)ggT>ggC	p.G30G	IGLL5_ENST00000531372.1_Silent_p.G30G|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Silent_p.G30G	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	30						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGCTGCTGGGTCTGGCCATGG	0.667																																					p.G30G		Atlas-SNP	.											.	IGLL5	26	.	0			c.T90C						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GCTGGGTCTGGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.90T>C	22.37:g.23230323T>C		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	97	37	0.381443	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		C	23230323	T	C	23230323	2	2	29	1	0	0	0	0	0	0	0	1	7594	1654	58	2		2	IGLL5	22	23230323	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	14	23230323	28074243	181	22535			3	99		4	4	95	N	T_G_-	2.722828e-11
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230360	23230360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	atggcctgctgcgcccaatgGttgcaccgcaaagcggggac	14	13	0	0	rs6003368	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23230360G>A	ENST00000526893.1	+	1	401	c.127G>A	c.(127-129)Gtt>Att	p.V43I	IGLL5_ENST00000531372.1_Missense_Mutation_p.V43I|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.V43I	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	43						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCGCCCAATGGTTGCACCGCA	0.672																																					p.W7X		Atlas-SNP	.											.	IGLL5	26	.	0			c.G21A						PASS	.																																			SO:0001583	missense	100423062	exon1			CCAATGGTTGCAC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.127G>A	22.37:g.23230360G>A	ENSP00000431254:p.Val43Ile	Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	101	47	0.465347	NM_001256296		Nonsense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187440	0.21870	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00568	6.53;6.53	3.92	0.473	0.16763	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.44034	-0.9354	9	0.49607	T	0.09	.	2.3416	0.04261	0.1095:0.1927:0.4993:0.1985	rs6003368;rs6003368	43	B9A064	IGLL5_HUMAN	I	43	ENSP00000436353:V43I;ENSP00000431254:V43I	ENSP00000431254:V43I	V	+	1	0	IGLL5	21560360	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.128000	0.03247	0.192000	0.20272	0.643000	0.83706	GTT	G|1.000;|0.000	.	weak		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230360	G	A	23230360	3	1	29	1	0	0	0	0	1	0	0	0	7594	1261	44	2	129	2	IGLL5	22	23230360	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	37	23230360	28074206	182	22536			3	99		4	4	95	N	T_G_-	2.722828e-11
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230403	23230403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agaccctggagcctcagttgGaagcagccgatccagcctgc	12	14	1	1	rs530312149	byFrequency	TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23230403G>A	ENST00000526893.1	+	1	444	c.170G>A	c.(169-171)gGa>gAa	p.G57E	IGLL5_ENST00000531372.1_Missense_Mutation_p.G57E|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.G57E	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	57						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCCTCAGTTGGAAGCAGCCGA	0.657													G|||	4	0.000798722	0.0	0.0	5008	,	,		10551	0.0		0.004	False		,,,				2504	0.0				p.G57E		Atlas-SNP	.											.	IGLL5	26	.	0			c.G170A						PASS	.																																			SO:0001583	missense	100423062	exon1			CAGTTGGAAGCAG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.170G>A	22.37:g.23230403G>A	ENSP00000431254:p.Gly57Glu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	102	45	0.441176	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608516	0.46527	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00581	6.43;6.42	3.92	0.609	0.17575	.	.	.	.	.	T	0.00468	0.0015	L	0.32530	0.975	0.09310	N	1	B	0.30584	0.286	B	0.23018	0.043	T	0.44190	-0.9344	9	0.29301	T	0.29	.	4.1265	0.10129	0.218:0.194:0.588:0.0	.	57	B9A064	IGLL5_HUMAN	E	57	ENSP00000436353:G57E;ENSP00000431254:G57E	ENSP00000431254:G57E	G	+	2	0	IGLL5	21560403	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.009000	0.12765	0.224000	0.20940	0.643000	0.83706	GGA	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230403	G	A	23230403	3	1	29	1	0	0	0	0	1	0	0	0	7594	1174	41	2	172	2	IGLL5	22	23230403	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	43	23230403	28074163	183	22537			3	99		4	4	95	N	T_G_-	2.722828e-11
BCR	613	hgsc.bcm.edu	37	chr22	23523318	23523318	+	Silent	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	caggagcgcttccgcatgatCtacctgcagacgttgctggc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23523318C>T	ENST00000305877.8	+	1	922	c.171C>T	c.(169-171)atC>atT	p.I57I	BCR_ENST00000359540.3_Silent_p.I57I|BCR_ENST00000398512.5_Silent_p.I57I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	57	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TCCGCATGATCTACCTGCAGA	0.677			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																p.I57I		Atlas-SNP	.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR	74	.	0			c.C171T						PASS	.						21	23	22					22																	23523318		2187	4281	6468	SO:0001819	synonymous_variant	613	exon1			CATGATCTACCTG		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.171C>T	22.37:g.23523318C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			.	.	none		0.677	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23523318	C	T	23523318	2	4	29	1	0	0	0	0	0	0	0	1	1388	903	32	2		2	BCR	22	23523318	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	292915	23523318	27781248	184	22538	457	3								
BCR	613	hgsc.bcm.edu	37	chr22	23523322	23523322	+	Silent	SNP	C	C	T													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agcgcttccgcatgatctacCtgcagacgttgctggccaag							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23523322C>T	ENST00000305877.8	+	1	926	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	BCR_ENST00000359540.3_Silent_p.L59L|BCR_ENST00000398512.5_Silent_p.L59L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	59	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CATGATCTACCTGCAGACGTT	0.682			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																p.L59L		Atlas-SNP	.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR	74	.	0			c.C175T						PASS	.						21	22	22					22																	23523322		2186	4278	6464	SO:0001819	synonymous_variant	613	exon1			ATCTACCTGCAGA		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.175C>T	22.37:g.23523322C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	78	31	0.397436	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			.	.	none		0.682	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23523322	C	T	23523322	2	4	29	1	0	0	0	0	0	0	0	1	1388	680	24	2		2	BCR	22	23523322	Silent	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	4	23523322	27781244	185	22539	457	3								
BCR	613	hgsc.bcm.edu	37	chr22	23523331	23523331	+	Silent	SNP	T	T	C													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gcatgatctacctgcagacgTtgctggccaaggaaaagaag							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:23523331T>C	ENST00000305877.8	+	1	935	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	BCR_ENST00000359540.3_Silent_p.L62L|BCR_ENST00000398512.5_Silent_p.L62L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	62	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCTGCAGACGTTGCTGGCCAA	0.687			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																p.L62L		Atlas-SNP	.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR	74	.	0			c.T184C						PASS	.						22	22	22					22																	23523331		2186	4274	6460	SO:0001819	synonymous_variant	613	exon1			CAGACGTTGCTGG		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.184T>C	22.37:g.23523331T>C		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	78	41	0.525641	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			.	.	none		0.687	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		C	23523331	T	C	23523331	2	2	29	1	0	0	0	0	0	0	0	1	1388	1722	60	2		2	BCR	22	23523331	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	9	23523331	27781235	186	22540	457	3								
APOL2	23780	hgsc.bcm.edu	37	chr22	36623579	36623579	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	gccccctcaagcaagtgcttTgactcatatgcaaggctgac	9	13	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:36623579T>A	ENST00000249066.6	-	6	1361	c.885A>T	c.(883-885)tcA>tcT	p.S295S	APOL2_ENST00000451256.2_Silent_p.S407S|APOL2_ENST00000358502.5_Silent_p.S295S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	295					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCAAGTGCTTTGACTCATATG	0.562																																					p.S295S		Atlas-SNP	.											.	APOL2	20	.	0			c.A885T						PASS	.						104	109	107					22																	36623579		2203	4300	6503	SO:0001819	synonymous_variant	23780	exon5			GTGCTTTGACTCA	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.885A>T	22.37:g.36623579T>A		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	163	79	0.484663	NM_030882	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	37	CCDS43014.1																																																																																			.	.	none		0.562	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		A	36623579	T	A	36623579	2	1	29	1	0	0	0	0	0	0	0	1	806	1799	63	5		5	APOL2	22	36623579	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	13100248	36623579	14680987	187	22541										
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38153834	38153834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccccagcccgcactcctgacCgcctggccaagcaggaggag	12	18	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:38153834C>T	ENST00000406386.3	+	16	6157	c.5902C>T	c.(5902-5904)Cgc>Tgc	p.R1968C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R255C|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R255C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1968					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACTCCTGACCGCCTGGCCAA	0.716																																					p.R1968C		Atlas-SNP	.											.	TRIOBP	262	.	0			c.C5902T						PASS	.						5	7	6					22																	38153834		2074	4027	6101	SO:0001583	missense	11078	exon16			CCTGACCGCCTGG	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5902C>T	22.37:g.38153834C>T	ENSP00000384312:p.Arg1968Cys	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	56	21	0.375	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.39|17.39	3.378678|3.378678	0.61735|0.61735	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000428075|ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	.|T	.|0.22743	.|1.94	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|.	.|.	.|.	.|.	T|T	0.39886|0.39886	0.1095|0.1095	M|M	0.61703|0.61703	1.905|1.905	0.22389|0.22389	N|N	0.999146|0.999146	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.68039	.|0.955;0.945;0.93	T|T	0.25502|0.25502	-1.0130|-1.0130	5|9	.|0.72032	.|D	.|0.01	.|.	8.7704|8.7704	0.34728|0.34728	0.0:0.7687:0.1523:0.079|0.0:0.7687:0.1523:0.079	.|.	.|255;255;1968	.|F8W6V6;F2Z2W0;Q9H2D6	.|.;.;TARA_HUMAN	L|C	208|1968;255;255;214;184	.|ENSP00000384312:R1968C	.|ENSP00000386026:R255C	P|R	+|+	2|1	0|0	TRIOBP|TRIOBP	36483780|36483780	0.632000|0.632000	0.27172|0.27172	0.974000|0.974000	0.42286|0.42286	0.895000|0.895000	0.52256|0.52256	1.766000|1.766000	0.38491|0.38491	2.413000|2.413000	0.81919|0.81919	0.561000|0.561000	0.74099|0.74099	CCG|CGC	.	.	none		0.716	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38153834	C	T	38153834	3	4	29	1	0	0	0	0	1	0	0	0	16550	652	23	1	6143	1	TRIOBP	22	38153834	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	1530255	38153834	13150732	188	22542										
CYB5R3	1727	hgsc.bcm.edu	37	chr22	43024249	43024249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aggtactgagacatcttcccTccagcgggaaacttgggatg	12	10	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chr22:43024249T>C	ENST00000352397.5	-	5	624	c.372A>G	c.(370-372)ggA>ggG	p.G124G	CYB5R3_ENST00000407332.1_Silent_p.G101G|CYB5R3_ENST00000407623.3_Silent_p.G101G|CYB5R3_ENST00000402438.1_Silent_p.G101G|CYB5R3_ENST00000396303.3_Silent_p.G101G|CYB5R3_ENST00000361740.4_Silent_p.G157G	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	124	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	ACATCTTCCCTCCAGCGGGAA	0.602																																					p.G157G		Atlas-SNP	.											.	CYB5R3	31	.	0			c.A471G						PASS	.						150	148	149					22																	43024249		2203	4300	6503	SO:0001819	synonymous_variant	1727	exon5			CTTCCCTCCAGCG	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.372A>G	22.37:g.43024249T>C		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	53	13	0.245283	NM_001171660	B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP	ENST00000352397.5	37	CCDS33658.1																																																																																			.	.	none		0.602	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			C	43024249	T	C	43024249	2	2	29	1	0	0	0	0	0	0	0	1	4128	1538	54	3		3	CYB5R3	22	43024249	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	4870415	43024249	8280317	189	22543										
ASB11	140456	hgsc.bcm.edu	37	chrX	15301725	15301725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	acacttccggacacacaggcGgcagagctgggaaagagcag	14	11	0	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:15301725G>A	ENST00000480796.1	-	7	924	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	ASB11_ENST00000537676.1_Missense_Mutation_p.R271C|ASB11_ENST00000344384.4_Missense_Mutation_p.R271C|ASB11_ENST00000380470.3_Missense_Mutation_p.R275C			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	292	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					ACACACAGGCGGCAGAGCTGG	0.522																																					p.R292C		Atlas-SNP	.											.	ASB11	79	.	0			c.C874T						PASS	.						118	99	106					X																	15301725		2203	4300	6503	SO:0001583	missense	140456	exon7			ACAGGCGGCAGAG	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.874C>T	X.37:g.15301725G>A	ENSP00000417914:p.Arg292Cys	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	67	65	0.970149	NM_080873	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321100	0.81580	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.72	5.72	0.89469	SOCS protein, C-terminal (3);	0.000000	0.64402	D	0.000010	D	0.94321	0.8175	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95462	0.8544	10	0.72032	D	0.01	-19.864	14.3095	0.66407	0.0:0.0:0.8516:0.1484	.	275;292;271	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	C	271;275;271;292	ENSP00000445465:R271C;ENSP00000369837:R275C;ENSP00000343408:R271C;ENSP00000417914:R292C	ENSP00000343408:R271C	R	-	1	0	ASB11	15211646	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.183000	0.72002	2.398000	0.81561	0.544000	0.68410	CGC	.	.	none		0.522	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			A	15301725	G	A	15301725	3	1	29	1	0	0	0	0	1	0	0	0	1015	1116	39	1	101	1	ASB11	23	15301725	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10		15301725	139968835	190	22544										
RBBP7	5931	hgsc.bcm.edu	37	chrX	16881137	16881137	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	catcatcattgggaatatgtActcgagcaaccaccagatga	8	10	2	2			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:16881137A>C	ENST00000380087.2	-	3	608	c.248T>G	c.(247-249)gTa>gGa	p.V83G	RBBP7_ENST00000380084.4_Missense_Mutation_p.V127G|RBBP7_ENST00000404022.1_Missense_Mutation_p.V83G			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	83					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GGGAATATGTACTCGAGCAAC	0.423																																					p.V127G		Atlas-SNP	.											.	RBBP7	58	.	0			c.T380G						PASS	.						162	133	143					X																	16881137		2203	4300	6503	SO:0001583	missense	5931	exon3			ATATGTACTCGAG	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.248T>G	X.37:g.16881137A>C	ENSP00000369427:p.Val83Gly	Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	193	177	0.917098	NM_001198719	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617623	0.87359	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035;ENST00000468092	T;T;T;T	0.75260	-0.71;-0.92;-0.75;-0.77	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	H	0.96833	3.89	0.80722	D	1	P;D;D	0.63880	0.954;0.989;0.993	D;D;D	0.87578	0.995;0.998;0.997	D	0.93493	0.6837	10	0.87932	D	0	1.766	14.2069	0.65739	1.0:0.0:0.0:0.0	.	83;83;127	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	G	83;127;83;3;49	ENSP00000369427:V83G;ENSP00000369424:V127G;ENSP00000386068:V83G;ENSP00000392714:V3G	ENSP00000369424:V127G	V	-	2	0	RBBP7	16791058	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	9.283000	0.95860	1.954000	0.56735	0.481000	0.45027	GTA	.	.	none		0.423	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		C	16881137	A	C	16881137	3	2	29	1	0	0	0	0	1	0	0	0	13104	391	14	5	1069	5	RBBP7	23	16881137	Missense_Mutation	SNP	A	TCGA-GS-A9TT-01A-11D-A382-10	1579412	16881137	138389423	191	22545										
CXorf22	170063	hgsc.bcm.edu	37	chrX	35969413	35969413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	aaacatgcacgtgtatacaaTaatagcccagagcccataaa	6	10	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:35969413T>C	ENST00000297866.5	+	5	888	c.822T>C	c.(820-822)aaT>aaC	p.N274N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	274										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTGTATACAATAATAGCCCAG	0.403																																					p.N274N		Atlas-SNP	.											.	CXorf22	272	.	0			c.T822C						PASS	.						64	57	59					X																	35969413		2202	4300	6502	SO:0001819	synonymous_variant	170063	exon5			ATACAATAATAGC	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.822T>C	X.37:g.35969413T>C		Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	208	189	0.908654	NM_152632	Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	CCDS14237.2																																																																																			.	.	none		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		C	35969413	T	C	35969413	2	2	29	1	0	0	0	0	0	0	0	1	4102	1403	49	2		2	CXorf22	23	35969413	Silent	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	19088276	35969413	119301147	192	22546										
BCOR	54880	hgsc.bcm.edu	37	chrX	39911471	39911471	+	Frame_Shift_Del	DEL	C	C	-													0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ccagatctaacagctccttaCtttcagggttgaaggcttcc							TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:39911471delC	ENST00000378444.4	-	15	5387	c.5159delG	c.(5158-5160)agtfs	p.S1720fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.S1686fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.S1686fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S1668fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.S563fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1720	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGCTCCTTACTTTCAGGGTT	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.S1720fs		Pindel,Atlas-Indel	.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	.	0			c.5160delT						PASS	.						60	49	53					X																	39911471		2202	4300	6502	SO:0001589	frameshift_variant	54880	exon15			.	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5159delG	X.37:g.39911471delC	ENSP00000367705:p.Ser1720fs	Somatic	216	.	.		WXS	Illumina HiSeq	Phase_I	163	84	0.515	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	CCDS48093.1																																																																																			.	.	none		0.493	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		-	39911471	C	-	39911471	7	5	29	1	0	1	0	1	0	0	0	0	1386	565	20	0	112	0	BCOR	23	39911471	Frame_Shift_Del	DEL	C	TCGA-GS-A9TT-01A-11D-A382-10	3942058	39911471	115359089	193	22547										
PIM2	11040	hgsc.bcm.edu	37	chrX	48775918	48775918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	tcgaacgcttcccgatccttGcctcctacgcaggcggaggc	11	16	0	0			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:48775918G>A	ENST00000376509.4	-	2	255	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	22					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						CCCGATCCTTGCCTCCTACGC	0.677																																					p.G22G		Atlas-SNP	.											.	PIM2	31	.	0			c.C66T						PASS	.						27	25	26					X																	48775918		2203	4299	6502	SO:0001819	synonymous_variant	11040	exon2			ATCCTTGCCTCCT	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.66C>T	X.37:g.48775918G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	75	65	0.866667	NM_006875	A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	CCDS14312.1																																																																																			.	.	none		0.677	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			A	48775918	G	A	48775918	2	1	29	1	0	0	0	0	0	0	0	1	11928	1306	46	2		2	PIM2	23	48775918	Silent	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	8864447	48775918	106494642	194	22548										
HDAC8	55869	hgsc.bcm.edu	37	chrX	71571612	71571612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	agttgaggatttgttggattCggtggggctcattgcggtct	16	5	2	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:71571612C>T	ENST00000373573.3	-	10	1423	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	HDAC8_ENST00000429103.2_Missense_Mutation_p.R166Q|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.R270Q	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	361					chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTGTTGGATTCGGTGGGGCTC	0.547													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14175	0.0		0.0	False		,,,				2504	0.0				p.R361Q		Atlas-SNP	.											.	HDAC8	18	.	0			c.G1082A						PASS	.						217	148	171					X																	71571612		2203	4300	6503	SO:0001583	missense	55869	exon10			TGGATTCGGTGGG	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.1082G>A	X.37:g.71571612C>T	ENSP00000362674:p.Arg361Gln	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	71	61	0.859155	NM_018486	A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849435	0.51270	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.0	0.34707	Histone deacetylase domain (1);	0.346769	0.32719	N	0.005733	T	0.55641	0.1933	N	0.03608	-0.345	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.01281	0.0;0.0	T	0.51718	-0.8670	10	0.54805	T	0.06	-1.3077	5.1597	0.15054	0.0:0.6597:0.0:0.3403	.	270;361	B4DKN0;Q9BY41	.;HDAC8_HUMAN	Q	361;270;166	ENSP00000362674:R361Q;ENSP00000362691:R270Q;ENSP00000388459:R166Q	ENSP00000362674:R361Q	R	-	2	0	HDAC8	71488337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.434000	0.34958	1.105000	0.41606	0.436000	0.28706	CGA	.	.	none		0.547	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		T	71571612	C	T	71571612	3	4	29	1	0	0	0	0	1	0	0	0	7013	884	31	1	59	1	HDAC8	23	71571612	Missense_Mutation	SNP	C	TCGA-GS-A9TT-01A-11D-A382-10	22795694	71571612	83698948	195	22549										
CYLC1	1538	hgsc.bcm.edu	37	chrX	83127996	83127996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	ggccacccatttacacagctGccagggaacagactccattc	8	15	0	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:83127996G>T	ENST00000329312.4	+	4	317	c.280G>T	c.(280-282)Gcc>Tcc	p.A94S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	94					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTACACAGCTGCCAGGGAACA	0.373																																					p.A94S		Atlas-SNP	.											.	CYLC1	272	.	0			c.G280T						PASS	.						39	37	38					X																	83127996		2201	4294	6495	SO:0001583	missense	1538	exon4			ACAGCTGCCAGGG	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.280G>T	X.37:g.83127996G>T	ENSP00000331556:p.Ala94Ser	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	157	143	0.910828	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.353949	0.41700	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.51817	0.69	4.58	-1.37	0.09056	.	.	.	.	.	T	0.33206	0.0855	L	0.49126	1.545	0.09310	N	1	B;B	0.28636	0.218;0.218	B;B	0.25140	0.058;0.058	T	0.30504	-0.9976	9	0.52906	T	0.07	4.0792	0.8651	0.01202	0.1939:0.1371:0.3069:0.3621	.	94;94	P35663;F5H4V5	CYLC1_HUMAN;.	S	94	ENSP00000331556:A94S	ENSP00000331556:A94S	A	+	1	0	CYLC1	83014652	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.925000	0.03992	-0.564000	0.06070	-0.191000	0.12829	GCC	.	.	none		0.373	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		T	83127996	G	T	83127996	3	4	29	1	0	0	0	0	1	0	0	0	4141	1319	46	4	294	4	CYLC1	23	83127996	Missense_Mutation	SNP	G	TCGA-GS-A9TT-01A-11D-A382-10	11556384	83127996	72142564	196	22550										
AGTR2	186	hgsc.bcm.edu	37	chrX	115303934	115303934	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.010989010989011	2	1	0.192613933996857	1.3631139944393	0	0.470588235294118	0.737566137566138	0	catgtttgcaagcattttttTtatcacctgcatgagtgttg	8	7	1	1			TCGA-GS-A9TT-01A-11D-A382-10	TCGA-GS-A9TT-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e6b849d0-569e-4f4a-aba6-25227d709267	ddddacd6-a277-4d16-bc20-4201b0fe2008	g.chrX:115303934T>G	ENST00000371906.4	+	3	591	c.401T>G	c.(400-402)tTt>tGt	p.F134C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	134					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	AGCATTTTTTTTATCACCTGC	0.388																																					p.F134C		Atlas-SNP	.											.	AGTR2	62	.	0			c.T401G						PASS	.						178	171	173					X																	115303934		2203	4300	6503	SO:0001583	missense	186	exon3			TTTTTTTTATCAC	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.401T>G	X.37:g.115303934T>G	ENSP00000360973:p.Phe134Cys	Somatic	345	0	0		WXS	Illumina HiSeq	Phase_I	249	228	0.915663	NM_000686	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277816	0.59758	.	.	ENSG00000180772	ENST00000371906	T	0.39229	1.09	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	L	0.59912	1.85	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.61753	-0.6998	10	0.87932	D	0	-12.1196	11.0559	0.47918	0.0:0.0:0.0:1.0	.	134	P50052	AGTR2_HUMAN	C	134	ENSP00000360973:F134C	ENSP00000360973:F134C	F	+	2	0	AGTR2	115217962	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.023000	0.70848	1.734000	0.51633	0.412000	0.27726	TTT	.	.	none		0.388	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		G	115303934	T	G	115303934	3	3	29	1	0	0	0	0	1	0	0	0	402	1841	64	5	403	5	AGTR2	23	115303934	Missense_Mutation	SNP	T	TCGA-GS-A9TT-01A-11D-A382-10	32175938	115303934	39966626	197	22551										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854401	12854401	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tatacctgaatagtattcaaGagctggaaattcgcaacatg	8	7	1	2	rs201717831		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:12854401G>T	ENST00000332296.7	+	3	728	c.625G>T	c.(625-627)Gag>Tag	p.E209*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	209					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGTATTCAAGAGCTGGAAAT	0.398																																					p.E209X		Atlas-SNP	.											PRAMEF1,NS,carcinoma,0,2	PRAMEF1	78	2	0			c.G625T						scavenged	.						363	333	343					1																	12854401		2203	4300	6503	SO:0001587	stop_gained	65121	exon3			ATTCAAGAGCTGG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.625G>T	1.37:g.12854401G>T	ENSP00000332134:p.Glu209*	Somatic	499	22	0.0440882		WXS	Illumina HiSeq	Phase_I	447	35	0.0782998	NM_023013	Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023241	0.54683	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.74	0.76	0.18442	.	0.742629	0.12834	N	0.435382	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.5875	0.07977	0.2694:0.0:0.7306:0.0	.	.	.	.	X	209	.	ENSP00000332134:E209X	E	+	1	0	PRAMEF1	12776988	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.426000	0.21363	0.256000	0.21614	0.543000	0.68304	GAG	G|0.500;C|0.500	.	alt		0.398	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854401	G	T	12854401	4	4	30	1	0	0	0	0	0	1	0	0	12425	943	33	4	631	4	PRAMEF1	1	12854401	Nonsense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10		12854401	236396220	1	22552										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12855647	12855647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggctacctattggaagaagaCatgaagtgtctctcccagta	10	9	1	3	rs200536957		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:12855647C>T	ENST00000332296.7	+	4	1030	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PRAMEF1_ENST00000400814.3_Silent_p.D64D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAAGACATGAAGTGTC	0.498																																					p.D309D		Atlas-SNP	.											PRAMEF1,NS,carcinoma,+2,2	PRAMEF1	78	2	0			c.C927T						scavenged	.						43	48	46					1																	12855647		2197	4275	6472	SO:0001819	synonymous_variant	65121	exon4			AGAAGACATGAAG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.927C>T	1.37:g.12855647C>T		Somatic	245	29	0.118367		WXS	Illumina HiSeq	Phase_I	179	25	0.139665	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			C|0.999;T|0.001	0.001	weak		0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855647	C	T	12855647	2	4	30	1	0	0	0	0	0	0	0	1	12425	477	17	2		2	PRAMEF1	1	12855647	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	1246	12855647	236394974	2	22553										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907385	12907385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cattaacatcatcatccagtGggtccccctcctcagcagag	7	15	3	1	rs150590256		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:12907385G>A	ENST00000317869.6	-	2	983	c.758C>T	c.(757-759)cCa>cTa	p.P253L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	253						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATCATCCAGTGGGTCCCCCTC	0.507																																					p.P253L		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,0,1	HNRNPCL1	68	1	0			c.C758T						scavenged	.						104	106	105					1																	12907385		2202	4295	6497	SO:0001583	missense	343069	exon2			TCCAGTGGGTCCC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.758C>T	1.37:g.12907385G>A	ENSP00000365370:p.Pro253Leu	Somatic	252	28	0.111111		WXS	Illumina HiSeq	Phase_I	214	23	0.107477	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.105909	0.00356	.	.	ENSG00000179172	ENST00000317869	T	0.08008	3.14	0.848	-1.58	0.08479	.	0.359505	0.22097	N	0.064662	T	0.01287	0.0042	N	0.00074	-2.255	0.23930	N	0.996434	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	10	0.45353	T	0.12	.	4.3013	0.10925	0.7598:0.0:0.2402:0.0	.	253	O60812	HNRCL_HUMAN	L	253	ENSP00000365370:P253L	ENSP00000365370:P253L	P	-	2	0	HNRNPCL1	12829972	1.000000	0.71417	0.049000	0.19019	0.006000	0.05464	1.770000	0.38532	-0.163000	0.10946	-0.755000	0.03482	CCA	.	.	weak		0.507	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12907385	G	A	12907385	3	1	30	1	0	0	0	0	1	0	0	0	7263	1348	47	2	125	2	HNRNPCL1	1	12907385	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	51738	12907385	236343236	3	22554										
PRAMEF4	400735	hgsc.bcm.edu	37	chr1	12943023	12943023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cagaggcctcagagggaggcGgcggaagggccaggactgca	19	10	1	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:12943023G>A	ENST00000235349.5	-	2	263	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	65					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGGAGGCGGCGGAAGGGC	0.602																																					p.R65C		Atlas-SNP	.											.	PRAMEF4	62	.	0			c.C193T						PASS	.						39	45	43					1																	12943023		2186	4267	6453	SO:0001583	missense	400735	exon2			GGAGGCGGCGGAA		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.193C>T	1.37:g.12943023G>A	ENSP00000235349:p.Arg65Cys	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	195	49	0.251282	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	3.809	-0.040112	0.07497	.	.	ENSG00000243073	ENST00000235349	T	0.05258	3.47	1.48	-0.647	0.11468	.	1.582610	0.03465	N	0.212854	T	0.03220	0.0094	N	0.05330	-0.07	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.40664	-0.9551	10	0.14656	T	0.56	.	3.9166	0.09225	0.5068:0.0:0.4932:0.0	.	65	O60810	PRAM4_HUMAN	C	65	ENSP00000235349:R65C	ENSP00000235349:R65C	R	-	1	0	PRAMEF4	12865610	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.260000	0.02858	-0.198000	0.10333	-0.498000	0.04607	CGC	.	.	none		0.602	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		A	12943023	G	A	12943023	3	1	30	1	0	0	0	0	1	0	0	0	12437	1116	39	1	1255	1	PRAMEF4	1	12943023	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	35638	12943023	236307598	4	22555										
ASAP3	55616	hgsc.bcm.edu	37	chr1	23779193	23779193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccagcatggagactcacctgTcgaccgtccctcagctgccc	9	18	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:23779193T>C	ENST00000336689.3	-	4	464	c.420A>G	c.(418-420)cgA>cgG	p.R140R	ASAP3_ENST00000437606.2_Silent_p.R140R	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	140					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTCACCTGTCGACCGTCCC	0.577																																					p.R140R		Atlas-SNP	.											.	ASAP3	65	.	0			c.A420G						PASS	.						184	173	177					1																	23779193		2203	4300	6503	SO:0001819	synonymous_variant	55616	exon4			CACCTGTCGACCG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.420A>G	1.37:g.23779193T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	71	14	0.197183	NM_001143778	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	CCDS235.1																																																																																			.	.	none		0.577	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		C	23779193	T	C	23779193	2	2	30	1	0	0	0	0	0	0	0	1	1012	1654	58	2		2	ASAP3	1	23779193	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	10836170	23779193	225471428	5	22556										
ZC3H12A	80149	hgsc.bcm.edu	37	chr1	37947259	37947259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cctggtgttcacaccatcacGacgcgtgggtggcaagcggg	15	12	2	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:37947259G>A	ENST00000373087.6	+	4	757	c.641G>A	c.(640-642)cGa>cAa	p.R214Q		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACACCATCACGACGCGTGGGT	0.587																																					p.R214Q		Atlas-SNP	.											.	ZC3H12A	58	.	0			c.G641A						PASS	.						254	225	235					1																	37947259		2203	4300	6503	SO:0001583	missense	80149	exon4			CATCACGACGCGT		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.641G>A	1.37:g.37947259G>A	ENSP00000362179:p.Arg214Gln	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	74	12	0.162162	NM_025079		Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518547	0.96416	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44482	0.92	5.65	5.65	0.86999	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	10	0.56958	D	0.05	-36.0527	19.7405	0.96228	0.0:0.0:1.0:0.0	.	214	Q5D1E8	ZC12A_HUMAN	Q	214	ENSP00000362179:R214Q	ENSP00000362174:R214Q	R	+	2	0	ZC3H12A	37719846	1.000000	0.71417	0.478000	0.27316	0.805000	0.45488	9.807000	0.99171	2.655000	0.90218	0.655000	0.94253	CGA	.	.	none		0.587	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		A	37947259	G	A	37947259	3	1	30	1	0	0	0	0	1	0	0	0	17558	1058	37	1	651	1	ZC3H12A	1	37947259	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	14168066	37947259	211303362	6	22557										
NASP	4678	hgsc.bcm.edu	37	chr1	46073597	46073597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	caactggtaggtcaagaagtAccacctgctgaagagtcacc	10	11	2	3	rs76379164	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:46073597A>G	ENST00000350030.3	+	6	1101	c.1014A>G	c.(1012-1014)gtA>gtG	p.V338V	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Silent_p.V340V|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Silent_p.V274V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	338	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.V340V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTCAAGAAGTACCACCTGCTG	0.552													G|||	43	0.00858626	0.0	0.0	5008	,	,		19738	0.0357		0.003	False		,,,				2504	0.0041				p.V338V		Atlas-SNP	.											NASP,NS,carcinoma,0,2	NASP	77	2	1	Substitution - coding silent(1)	prostate(1)	c.A1014G						scavenged	.						70	72	71					1																	46073597		2203	4300	6503	SO:0001819	synonymous_variant	4678	exon6			AGAAGTACCACCT	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1014A>G	1.37:g.46073597A>G		Somatic	156	8	0.0512821		WXS	Illumina HiSeq	Phase_I	159	3	0.0188679	NM_002482	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	CCDS524.1																																																																																			A|0.987;G|0.013	0.013	strong		0.552	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		G	46073597	A	G	46073597	2	3	30	1	0	0	0	0	0	0	0	1	10172	378	14	2		2	NASP	1	46073597	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	8126338	46073597	203177024	7	22558										
L1TD1	54596	hgsc.bcm.edu	37	chr1	62675645	62675674	+	In_Frame_Del	DEL	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	-													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gatggaggatgatgaagataCctcagggctggaggaggagg					rs141196718|rs199552452|rs201629799|rs200503897|rs200931139|rs532563709|rs386631745|rs145231033|rs200789118	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENST00000498273.1	+	4	1494_1523	c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	c.(1198-1230)acctcagggctggaggaggaggaggaagagccc>acc	p.SGLEEEEEEP401del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	401	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GATGAAGATACCTCAGGGCTggaggaggaggaggaagagccctcagggct	0.535																																					p.400_409del		Atlas-Indel	.											L1TD1,NS,carcinoma,-2,1	L1TD1	114	1	0			c.1198_1227del						PASS	.		,	335,3925		13,309,1808					,	-4.7	0			50	405,7849		12,381,3734	no	coding,coding	L1TD1	NM_019079.4,NM_001164835.1	,	25,690,5542	A1A1,A1R,RR		4.9067,7.8638,5.9134	,	,		740,11774				SO:0001651	inframe_deletion	54596	exon5			.	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	1.37:g.62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENSP00000419901:p.Ser401_Pro410del	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	142	41	0.288732	NM_001164835	Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	ENST00000498273.1	37	CCDS619.1																																																																																			.	.	none		0.535	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		-	62675674	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	-	62675645	7	5	30	1	0	1	0	1	0	0	0	0	8589	507	18	0	1205	0	L1TD1	1	62675645	In_Frame_Del	DEL	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	TCGA-GS-A9TU-01A-11D-A382-10	16602048	62675645	186574976	8	22559										
RBMXL1	494115	hgsc.bcm.edu	37	chr1	89448539	89448539	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggctgcttgagtaactgtctCgacttccaccatatccatca	7	13	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:89448539C>G	ENST00000321792.5	-	2	1398	c.971G>C	c.(970-972)cGa>cCa	p.R324P	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R324P|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	324	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTAACTGTCTCGACTTCCACC	0.517																																					p.R324P		Atlas-SNP	.											CCBL2,NS,carcinoma,-1,1	.	.	1	0			c.G971C						scavenged	.						185	184	184					1																	89448539		2203	4300	6503	SO:0001583	missense	494115	exon3			CTGTCTCGACTTC	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.971G>C	1.37:g.89448539C>G	ENSP00000318415:p.Arg324Pro	Somatic	232	6	0.0258621		WXS	Illumina HiSeq	Phase_I	244	4	0.0163934	NM_001162536		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844738	0.51164	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77358	-1.09;-1.09	1.89	0.895	0.19247	.	0.070349	0.64402	D	0.000016	T	0.62925	0.2468	M	0.65498	2.005	0.33162	D	0.547093	D	0.55172	0.97	P	0.46796	0.527	T	0.60667	-0.7218	10	0.52906	T	0.07	-3.2327	6.12	0.20148	0.0:0.8158:0.0:0.1842	.	324	Q96E39	RBMXL_HUMAN	P	324	ENSP00000318415:R324P;ENSP00000446099:R324P	ENSP00000318415:R324P	R	-	2	0	RBMXL1	89221127	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	4.995000	0.63908	0.128000	0.18479	0.306000	0.20318	CGA	.	.	none		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448539	C	G	89448539	3	3	30	1	0	0	0	0	1	0	0	0	13153	884	31	4	205	4	RBMXL1	1	89448539	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	26772894	89448539	159802082	9	22560										
NOTCH2NL	388677	hgsc.bcm.edu	37	chr1	145248876	145248876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	aatgtgtgttacctaccacaAtggcacaggatactgcaagt	9	9	0	0	rs200866084		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:145248876A>G	ENST00000369340.3	+	3	464	c.20A>G	c.(19-21)aAt>aGt	p.N7S	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.N7S			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	7	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N7S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCTACCACAATGGCACAGGA	0.348																																					p.N7S		Atlas-SNP	.											NOTCH2NL_ENST00000362074,colon,carcinoma,0,2	NOTCH2NL	100	2	2	Substitution - Missense(2)	large_intestine(2)	c.A20G						scavenged	.						11	10	10					1																	145248876		2011	4104	6115	SO:0001583	missense	388677	exon2			ACCACAATGGCAC		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.20A>G	1.37:g.145248876A>G	ENSP00000358346:p.Asn7Ser	Somatic	2957	294	0.0994251		WXS	Illumina HiSeq	Phase_I	2693	222	0.0824359	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596096	0.46318	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.63255	-0.03;-0.03;-0.03	3.15	3.15	0.36227	Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47432	0.1445	L	0.35793	1.09	0.22552	N	0.998997	D;D	0.63880	0.993;0.988	P;P	0.55391	0.775;0.6	T	0.26087	-1.0113	9	0.49607	T	0.09	.	7.9433	0.29971	1.0:0.0:0.0:0.0	.	7;7	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	S	7	ENSP00000354929:N7S;ENSP00000344557:N7S;ENSP00000358346:N7S	ENSP00000344557:N7S	N	+	2	0	NOTCH2NL	143960233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.487000	0.60293	1.439000	0.47511	0.329000	0.21502	AAT	.	.	weak		0.348	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		G	145248876	A	G	145248876	3	3	30	1	0	0	0	0	1	0	0	0	10549	101	4	2	22	2	NOTCH2NL	1	145248876	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	55800337	145248876	104001745	10	22561										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299805	145299805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tttgtccagcgagaaggcagAgatgaacattctagaaatca	10	7	2	4	rs61814629	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491				p.E285A		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	skin(2)	c.A854C						scavenged	.						9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406	exon6			AGGCAGAGATGAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala	Somatic	122	8	0.0655738		WXS	Illumina HiSeq	Phase_I	106	4	0.0377358	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG	A|0.999;G|0.001	.	weak		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	30	1	0	0	0	0	1	0	0	0	10193	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	50929	145299805	103950816	11	22562										
NBPF14	25832	hgsc.bcm.edu	37	chr1	148004708	148004708	+	Missense_Mutation	SNP	T	T	A													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	atgagtcaggtagttcaaagTacattgacggagtcgaataa					rs200993524	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:148004708T>A	ENST00000369219.1	-	22	2622	c.2606A>T	c.(2605-2607)tAc>tTc	p.Y869F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	869	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.Y869C(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TAGTTCAAAGTACATTGACGG	0.433													-|||	79	0.0157748	0.0287	0.0231	5008	,	,		27935	0.001		0.0169	False		,,,				2504	0.0072				p.Y869F		Atlas-SNP	.											NBPF14,NS,carcinoma,+1,2	NBPF14	107	2	2	Substitution - Missense(2)	lung(2)	c.A2606T						scavenged	.						126	192	170					1																	148004708		2126	4259	6385	SO:0001583	missense	25832	exon22			TCAAAGTACATTG	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2606A>T	1.37:g.148004708T>A	ENSP00000358221:p.Tyr869Phe	Somatic	401	11	0.0274314		WXS	Illumina HiSeq	Phase_I	374	12	0.0320856	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.066|2.066	-0.414183|-0.414183	0.04766|0.04766	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.07327	.|3.2	0.445|0.445	-0.891|-0.891	0.10573|0.10573	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.04679|0.04679	0.0127|0.0127	L|L	0.48362|0.48362	1.52|1.52	0.09310|0.09310	N|N	1|1	.|P;D;B	.|0.62365	.|0.75;0.991;0.195	.|P;P;B	.|0.60609	.|0.45;0.877;0.123	T|T	0.23368|0.23368	-1.0190|-1.0190	4|8	.|0.16896	.|T	.|0.51	.|.	.|.	.|.	.|.	.|.	.|217;850;869	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	S|F	875|869;217	.|ENSP00000358221:Y869F	.|ENSP00000358221:Y869F	T|Y	-|-	1|2	0|0	NBPF14|NBPF14	146471332|146471332	0.129000|0.129000	0.22400|0.22400	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.691000|0.691000	0.25467|0.25467	-0.659000|-0.659000	0.05359|0.05359	0.305000|0.305000	0.20034|0.20034	ACT|TAC	T|0.999;A|0.001	0.001	weak		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		A	148004708	T	A	148004708	3	1	30	1	0	0	0	0	1	0	0	0	10194	1638	57	5	163	5	NBPF14	1	148004708	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	2704903	148004708	101245913	12	22563	458	2								
NBPF14	25832	hgsc.bcm.edu	37	chr1	148004717	148004717	+	Missense_Mutation	SNP	G	G	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gtagttcaaagtacattgacGgagtcgaataacatatatcc							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:148004717G>T	ENST00000369219.1	-	22	2613	c.2597C>A	c.(2596-2598)cCg>cAg	p.P866Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	866	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GTACATTGACGGAGTCGAATA	0.433																																					p.P866Q		Atlas-SNP	.											NBPF14,rectum,carcinoma,+1,1	NBPF14	107	1	0			c.C2597A						scavenged	.																																			SO:0001583	missense	25832	exon22			ATTGACGGAGTCG	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2597C>A	1.37:g.148004717G>T	ENSP00000358221:p.Pro866Gln	Somatic	342	3	0.00877193		WXS	Illumina HiSeq	Phase_I	328	9	0.027439	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	8.176|8.176	0.792852|0.792852	0.16327|0.16327	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.09817|.	2.94|.	0.445|0.445	-0.821|-0.821	0.10822|0.10822	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.27765|0.27765	0.0683|0.0683	M|M	0.76574|0.76574	2.34|2.34	0.09310|0.09310	N|N	1|1	D;D;P|.	0.89917|.	1.0;1.0;0.898|.	D;D;P|.	0.91635|.	0.999;0.996;0.529|.	T|T	0.35375|0.35375	-0.9791|-0.9791	8|4	0.49607|.	T|.	0.09|.	.|.	.|.	.|.	.|.	.|.	214;847;866|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	Q|S	866;214|872	ENSP00000358221:P866Q|.	ENSP00000358221:P866Q|.	P|R	-|-	2|1	0|0	NBPF14|NBPF14	146471341|146471341	0.056000|0.056000	0.20664|0.20664	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.775000|0.775000	0.26689|0.26689	-0.330000|-0.330000	0.08514|0.08514	0.372000|0.372000	0.22366|0.22366	CCG|CGT	.	.	none		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		T	148004717	G	T	148004717	3	4	30	1	0	0	0	0	1	0	0	0	10194	1116	39	4	172	4	NBPF14	1	148004717	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	9	148004717	101245904	13	22564	458	2								
CELF3	11189	hgsc.bcm.edu	37	chr1	151678722	151678722	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tctctttgctgctgctgctgTtgctgctgctgctgctgctg	12	12	1	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Silent_p.Q163Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																					p.Q368Q		Atlas-SNP	.											CELF3,caecum,carcinoma,0,1	CELF3	49	1	0			c.A1104G						scavenged	.						19	20	20					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189	exon10			CTGCTGTTGCTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	1.37:g.151678722T>C		Somatic	97	1	0.0103093		WXS	Illumina HiSeq	Phase_I	90	2	0.0222222	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC	.	.	none		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		C	151678722	T	C	151678722	2	2	30	1	0	0	0	0	0	0	0	1	3217	1722	60	2		2	CELF3	1	151678722	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	3674005	151678722	97571899	14	22565										
FLG	2312	hgsc.bcm.edu	37	chr1	152280691	152280691	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	atgattgtccctggcccaccAgtgagtgtctagagctgtcg	12	11	1	3	rs117945779	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:152280691A>T	ENST00000368799.1	-	3	6706	c.6671T>A	c.(6670-6672)cTg>cAg	p.L2224Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCCACCAGTGAGTGTCT	0.542									Ichthyosis				-|||	959	0.191494	0.1936	0.1873	5008	,	,		22319	0.3026		0.0706	False		,,,				2504	0.2014				p.L2224Q		Atlas-SNP	.											FLG,NS,malignant_melanoma,+1,1	FLG	900	1	0			c.T6671A						scavenged	.						260	255	257					1																	152280691		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCACCAGTGAGT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6671T>A	1.37:g.152280691A>T	ENSP00000357789:p.Leu2224Gln	Somatic	332	24	0.0722892		WXS	Illumina HiSeq	Phase_I	342	39	0.114035	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	2.028	-0.423196	0.04734	.	.	ENSG00000143631	ENST00000368799	T	0.02656	4.21	0.883	-0.332	0.12675	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.08381	T	0.77	.	1.4068	0.02283	0.3248:0.2503:0.0:0.4249	.	2224	P20930	FILA_HUMAN	Q	2224	ENSP00000357789:L2224Q	ENSP00000357789:L2224Q	L	-	2	0	FLG	150547315	0.313000	0.24554	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-0.732000	0.04856	-0.721000	0.03606	CTG	.	.	weak		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280691	A	T	152280691	3	4	30	1	0	0	0	0	1	0	0	0	5922	188	7	5	5518	5	FLG	1	152280691	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	601969	152280691	96969930	15	22566										
DCAF8	50717	hgsc.bcm.edu	37	chr1	160209665	160209665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gcccatgctgcaggcggaaaCgctgcacaaagactcttgcc	11	14	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr1:160209665C>T	ENST00000368073.3	-	4	979	c.545G>A	c.(544-546)cGt>cAt	p.R182H	DCAF8_ENST00000610139.1_Missense_Mutation_p.R182H|DCAF8_ENST00000475733.1_Missense_Mutation_p.R182H|DCAF8_ENST00000608310.1_Missense_Mutation_p.R336H|DCAF8_ENST00000556710.1_Missense_Mutation_p.R336H|DCAF8_ENST00000368074.1_Missense_Mutation_p.R182H|DCAF8_ENST00000326837.2_Missense_Mutation_p.R182H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	182				QR -> HG (in Ref. 1; AAA16607). {ECO:0000305}.	protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CAGGCGGAAACGCTGCACAAA	0.622																																					p.R182H		Atlas-SNP	.											.	DCAF8	64	.	0			c.G545A						PASS	.						60	59	60					1																	160209665		2203	4300	6503	SO:0001583	missense	50717	exon4			CGGAAACGCTGCA	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.545G>A	1.37:g.160209665C>T	ENSP00000357052:p.Arg182His	Somatic	192	0	0		WXS	Illumina HiSeq	Phase_I	140	29	0.207143	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896809	0.72639	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000001	D	0.82683	0.5090	L	0.39898	1.24	0.58432	D	0.999999	D;P;P	0.76494	0.999;0.934;0.742	D;B;B	0.78314	0.991;0.394;0.139	D	0.83516	0.0083	10	0.48119	T	0.1	-0.8097	17.1813	0.86856	0.0:1.0:0.0:0.0	.	336;182;182	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	H	182;182;182;336;163;182;336	ENSP00000357052:R182H;ENSP00000318227:R182H;ENSP00000357053:R182H;ENSP00000451989:R336H;ENSP00000413688:R182H;ENSP00000451235:R336H	ENSP00000318227:R182H	R	-	2	0	RP11-574F21.3;DCAF8	158476289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.125000	0.64715	2.333000	0.79357	0.655000	0.94253	CGT	.	.	none		0.622	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		T	160209665	C	T	160209665	3	4	30	1	0	0	0	0	1	0	0	0	4276	536	19	1	1292	1	DCAF8	1	160209665	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	7928974	160209665	89040956	16	22567										
EIF2B4	8890	hgsc.bcm.edu	37	chr2	27587653	27587653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgtatgtttcacagcaaaccAgcactggtacattatgggct	9	9	1	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:27587653A>T	ENST00000347454.4	-	12	1475	c.1304T>A	c.(1303-1305)cTg>cAg	p.L435Q	EIF2B4_ENST00000451130.2_Missense_Mutation_p.L455Q|EIF2B4_ENST00000493344.2_Missense_Mutation_p.L456Q|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.L434Q	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	435					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCAAACCAGCACTGGTAC	0.522																																					p.L455Q		Atlas-SNP	.											.	EIF2B4	48	.	0			c.T1364A						PASS	.						106	94	98					2																	27587653		2203	4300	6503	SO:0001583	missense	8890	exon11			CAAACCAGCACTG	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1304T>A	2.37:g.27587653A>T	ENSP00000233552:p.Leu435Gln	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	70	21	0.3	NM_172195	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196658	0.79015	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.87578	0.998;0.998;0.992;0.982	D	0.97934	1.0322	10	0.87932	D	0	-11.0063	13.5046	0.61477	1.0:0.0:0.0:0.0	.	432;434;435;455	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	Q	435;432;434;455;456	ENSP00000233552:L435Q;ENSP00000394397:L434Q;ENSP00000394869:L455Q;ENSP00000429323:L456Q	ENSP00000233552:L435Q	L	-	2	0	EIF2B4	27441157	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.081000	0.94049	2.058000	0.61347	0.533000	0.62120	CTG	.	.	none		0.522	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			T	27587653	A	T	27587653	3	4	30	1	0	0	0	0	1	0	0	0	5003	188	7	5	275	5	EIF2B4	2	27587653	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10		27587653	215611720	17	22568										
DYSF	8291	hgsc.bcm.edu	37	chr2	71778761	71778761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	aaggtgtggcttatcgtggcCggcttctgctctccctggag	14	11	2	0	rs377735262		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:71778761C>T	ENST00000258104.3	+	19	1940	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	DYSF_ENST00000409366.1_Missense_Mutation_p.R556W|DYSF_ENST00000394120.2_Missense_Mutation_p.R556W|DYSF_ENST00000409651.1_Missense_Mutation_p.R587W|DYSF_ENST00000409744.1_Missense_Mutation_p.R542W|DYSF_ENST00000410041.1_Missense_Mutation_p.R573W|DYSF_ENST00000413539.2_Missense_Mutation_p.R586W|DYSF_ENST00000409582.3_Missense_Mutation_p.R572W|DYSF_ENST00000409762.1_Missense_Mutation_p.R572W|DYSF_ENST00000410020.3_Missense_Mutation_p.R573W|DYSF_ENST00000429174.2_Missense_Mutation_p.R555W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	555			R -> W (in isolated hyperCKemia, LGMD2B and MMD1). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.		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						TTATCGTGGCCGGCTTCTGCT	0.637																																					p.R587W		Atlas-SNP	.											.	DYSF	536	.	0			c.C1759T	GRCh37	CM053205	DYSF	M		PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	52	45	47		1666,1621,1621,1663,1756,1714,1714,1759,1666,1624,1717,1624,1717,1663	4.6	1	2		47	1,8593		0,1,4296	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	101,101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	556/2082,541/2067,541/2088,555/2102,586/2112,572/2098,572/2119,587/2113,556/2103,542/2089,573/2099,542/2068,573/2120,555/2081	71778761	1,12999	2203	4297	6500	SO:0001583	missense	8291	exon20			CGTGGCCGGCTTC	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.1663C>T	2.37:g.71778761C>T	ENSP00000258104:p.Arg555Trp	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	53	16	0.301887	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228105	0.79576	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94232	-3.11;-3.38;-3.38;-3.06;-3.05;-3.11;-3.04;-3.32;-3.05;-3.38;-3.37	5.47	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	M	0.89534	3.04	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D	0.97395	0.9992	10	0.87932	D	0	-33.0299	12.9746	0.58531	0.1684:0.8316:0.0:0.0	.	587;573;556;542;573;542;572;541;586;572;555;541;556;555	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	586;572;572;555;555;587;556;542;556;573;573	ENSP00000407046:R586W;ENSP00000387137:R572W;ENSP00000386547:R572W;ENSP00000398305:R555W;ENSP00000258104:R555W;ENSP00000386683:R587W;ENSP00000377678:R556W;ENSP00000386285:R542W;ENSP00000386512:R556W;ENSP00000386881:R573W;ENSP00000386617:R573W	ENSP00000258104:R555W	R	+	1	2	DYSF	71632269	0.995000	0.38212	0.999000	0.59377	0.937000	0.57800	1.029000	0.30140	1.234000	0.43709	0.655000	0.94253	CGG	.	.	weak		0.637	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71778761	C	T	71778761	3	4	30	1	0	0	0	0	1	0	0	0	4859	643	23	1	1929	1	DYSF	2	71778761	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	44191108	71778761	171420612	18	22569										
LRRTM4	80059	hgsc.bcm.edu	37	chr2	77746792	77746792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tctgaatgctgttgaaccttAatgataagccttgtgaccct	8	9	1	4			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:77746792A>G	ENST00000409093.1	-	3	539	c.203T>C	c.(202-204)tTa>tCa	p.L68S	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L68S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L69S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.L68S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L69S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	68					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTGAACCTTAATGATAAGCC	0.418																																					p.L68S		Atlas-SNP	.											LRRTM4_ENST00000409093,colon,carcinoma,+1,2	LRRTM4	334	2	0			c.T203C						PASS	.						130	123	125					2																	77746792		1926	4136	6062	SO:0001583	missense	80059	exon3			AACCTTAATGATA	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.203T>C	2.37:g.77746792A>G	ENSP00000386357:p.Leu68Ser	Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	232	57	0.24569	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247695	0.59103	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	D	0.90741	0.7094	H	0.96604	3.85	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93611	0.6939	10	0.87932	D	0	.	14.8238	0.70094	1.0:0.0:0.0:0.0	.	69;68;68	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	69;68;68;68;69	ENSP00000387228:L69S;ENSP00000387297:L68S;ENSP00000386357:L68S;ENSP00000386236:L68S;ENSP00000386286:L69S	ENSP00000386236:L68S	L	-	2	0	LRRTM4	77600300	0.996000	0.38824	0.920000	0.36463	0.998000	0.95712	9.339000	0.96797	2.189000	0.69895	0.533000	0.62120	TTA	.	.	none		0.418	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		G	77746792	A	G	77746792	3	3	30	1	0	0	0	0	1	0	0	0	9042	372	13	2	1583	2	LRRTM4	2	77746792	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	5968031	77746792	165452581	19	22570										
YSK4	80122	hgsc.bcm.edu	37	chr2	135745091	135745091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttctgggagtttatcaatggGgtcatcaaagactacactgg	11	7	4	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:135745091G>T	ENST00000375845.3	-	7	1381	c.1351C>A	c.(1351-1353)Ccc>Acc	p.P451T	MAP3K19_ENST00000392915.1_Missense_Mutation_p.P468T|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P338T|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	451							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTATCAATGGGGTCATCAAAG	0.358																																					p.P451T		Atlas-SNP	.											YSK4_ENST00000375845,NS,carcinoma,+1,1	.	.	1	0			c.C1351A						scavenged	.						117	119	118					2																	135745091		2203	4300	6503	SO:0001583	missense	80122	exon7			CAATGGGGTCATC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1351C>A	2.37:g.135745091G>T	ENSP00000365005:p.Pro451Thr	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	306	5	0.0163399	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903160	0.17760	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.75050	-0.9;-0.83;1.43	4.84	2.0	0.26442	.	0.170895	0.28047	N	0.016814	T	0.57844	0.2081	L	0.35854	1.095	0.21697	N	0.999585	P;P;B	0.35107	0.465;0.484;0.335	B;B;B	0.33254	0.148;0.16;0.071	T	0.52094	-0.8621	10	0.56958	D	0.05	.	3.665	0.08253	0.1876:0.0:0.4671:0.3453	.	338;468;451	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	451;338;468	ENSP00000365005:P451T;ENSP00000351140:P338T;ENSP00000376647:P468T	ENSP00000351140:P338T	P	-	1	0	YSK4	135461561	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.036000	0.13819	0.229000	0.21039	-0.291000	0.09656	CCC	.	.	none		0.358	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135745091	G	T	135745091	3	4	30	1	0	0	0	0	1	0	0	0	17492	1232	43	4	2651	4	YSK4	2	135745091	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	57998299	135745091	107454282	20	22571										
SCN3A	6328	hgsc.bcm.edu	37	chr2	165948871	165948871	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	caaattctccagtgaacagaAcaatgaacactaggttgatc	7	9	1	4			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:165948871A>C	ENST00000360093.3	-	27	5191	c.4700T>G	c.(4699-4701)gTt>gGt	p.V1567G	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.V1567G|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1518G|SCN3A_ENST00000540861.1_Missense_Mutation_p.V50G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1567					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTGAACAGAACAATGAACAC	0.468																																					p.V1567G		Atlas-SNP	.											.	SCN3A	544	.	0			c.T4700G						PASS	.						168	135	146					2																	165948871		2203	4300	6503	SO:0001583	missense	6328	exon27			AACAGAACAATGA	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4700T>G	2.37:g.165948871A>C	ENSP00000353206:p.Val1567Gly	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	125	27	0.216	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	15.82	2.945058	0.53079	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.78	5.78	0.91487	.	0.231242	0.33401	N	0.004958	D	0.97204	0.9086	L	0.37750	1.13	0.80722	D	1	P;B;B	0.41188	0.741;0.001;0.001	P;B;B	0.47744	0.556;0.003;0.015	D	0.97804	1.0246	10	0.56958	D	0.05	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	1518;1518;1567	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	G	1567;1567;1518;50	ENSP00000353206:V1567G;ENSP00000283254:V1567G;ENSP00000386726:V1518G;ENSP00000439920:V50G	ENSP00000283254:V1567G	V	-	2	0	SCN3A	165657117	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	9.287000	0.95975	2.333000	0.79357	0.482000	0.46254	GTT	.	.	none		0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165948871	A	C	165948871	3	2	30	1	0	0	0	0	1	0	0	0	13918	43	2	5	1310	5	SCN3A	2	165948871	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	30203780	165948871	77250502	21	22572										
SCN1A	6323	hgsc.bcm.edu	37	chr2	166930005	166930006	+	Frame_Shift_Ins	INS	-	-	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gggccattttcgtcgtcatcINSttttttgtctggtttgggat							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:166930005_166930006insT	ENST00000303395.4	-	1	125_126	c.126_127insA	c.(124-129)aaagatfs	p.D43fs	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Frame_Shift_Ins_p.D43fs|SCN1A_ENST00000409050.1_Frame_Shift_Ins_p.D43fs|SCN1A_ENST00000423058.2_Frame_Shift_Ins_p.D43fs|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	43					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)	p.K42N(4)		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)	TCGTCGTCATCTTTTTTGTCTG	0.446																																					p.D43fs		Pindel,Atlas-Indel	.											.	SCN1A	641	.	4	Substitution - Missense(4)	lung(4)	c.127_128insA						PASS	.																																			SO:0001589	frameshift_variant	6323	exon1			.	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.127dupA	2.37:g.166930011_166930011dupT	ENSP00000303540:p.Asp43fs	Somatic	377	.	.		WXS	Illumina HiSeq	Phase_I	338	51	0.151	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Frame_Shift_Ins	INS	ENST00000303395.4	37	CCDS54413.1																																																																																			.	.	none		0.446	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166930006	-	T	166930005	7	5	30	1	0	1	1	0	0	0	0	0	13914	913	32	0	6006	0	SCN1A	2	166930005	Frame_Shift_Ins	INS	-	TCGA-GS-A9TU-01A-11D-A382-10	981134	166930005	76269368	22	22573										
CPS1	1373	hgsc.bcm.edu	37	chr2	211464275	211464275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggcatgggtggccagacagcTctgaactgtggtgagttctt	15	8	2	3			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:211464275T>C	ENST00000233072.5	+	14	1735	c.1539T>C	c.(1537-1539)gcT>gcC	p.A513A	CPS1_ENST00000430249.2_Silent_p.A519A|CPS1_ENST00000451903.2_Silent_p.A62A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	513					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCCAGACAGCTCTGAACTGTG	0.428																																					p.A519A		Atlas-SNP	.											.	CPS1	485	.	0			c.T1557C						PASS	.						114	117	116					2																	211464275		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon15			GACAGCTCTGAAC	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1539T>C	2.37:g.211464275T>C		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	24	0.206897	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	9.241	1.038216	0.19669	.	.	ENSG00000021826	ENST00000536125	.	.	.	5.17	3.93	0.45458	.	.	.	.	.	T	0.66703	0.2816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70539	-0.4844	5	0.87932	D	0	-26.7793	11.0084	0.47649	0.0:0.0:0.2859:0.7141	.	.	.	.	P	513	.	ENSP00000445539:L513P	L	+	2	0	CPS1	211172520	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.051000	0.30417	2.084000	0.62774	0.374000	0.22700	CTC	.	.	none		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			C	211464275	T	C	211464275	2	2	30	1	0	0	0	0	0	0	0	1	3823	1538	54	3		3	CPS1	2	211464275	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	44534270	211464275	31735098	23	22574										
IRS1	3667	hgsc.bcm.edu	37	chr2	227661396	227661398	+	In_Frame_Del	DEL	TGC	TGC	-													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggtcccggaagggacggcgtTgctgctgctgctgctgctgc					rs138975702	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr2:227661396_227661398delTGC	ENST00000305123.5	-	1	3077_3079	c.2057_2059delGCA	c.(2056-2061)agcaac>aac	p.S686del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	686	Poly-Ser.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGACGGCGTtgctgctgctgct	0.621											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70	0.0139776	0.0356	0.0072	5008	,	,		17570	0.004		0.008	False		,,,				2504	0.0061				p.686_687del		Atlas-Indel	.											IRS1,right_upper_lobe,carcinoma,+1,1	IRS1	141	1	0			c.2058_2060del	GRCh37	CD951753	IRS1	D	rs138975702	PASS	.																																			SO:0001651	inframe_deletion	3667	exon1			.		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2057_2059delGCA	2.37:g.227661405_227661407delTGC	ENSP00000304895:p.Ser686del	Somatic	104	0	0	2321	WXS	Illumina HiSeq	Phase_I	104	10	0.0961538	NM_005544		In_Frame_Del	DEL	ENST00000305123.5	37	CCDS2463.1																																																																																			.	.	strong		0.621	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		-	227661398	TGC	-	227661396	7	5	30	1	0	1	0	1	0	0	0	0	7840	1812	63	0	1673	0	IRS1	2	227661396	In_Frame_Del	DEL	TGC	TCGA-GS-A9TU-01A-11D-A382-10	16197121	227661396	15537977	24	22575										
APEH	327	hgsc.bcm.edu	37	chr3	49718542	49718542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tccccttggcagaaagttggGttcctgccttctgcagggaa	12	11	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:49718542G>A	ENST00000296456.5	+	15	1708	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	APEH_ENST00000438011.1_Silent_p.G436G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	436					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAAAGTTGGGTTCCTGCCTT	0.597																																					p.G436G		Atlas-SNP	.											.	APEH	45	.	0			c.G1308A						PASS	.						113	105	108					3																	49718542		2203	4300	6503	SO:0001819	synonymous_variant	327	exon15			AGTTGGGTTCCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1308G>A	3.37:g.49718542G>A		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	65	20	0.307692	NM_001640	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			.	.	none		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49718542	G	A	49718542	2	1	30	1	0	0	0	0	0	0	0	1	768	1248	44	2		2	APEH	3	49718542	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10		49718542	148303888	25	22576										
MUC13	56667	hgsc.bcm.edu	37	chr3	124646710	124646710	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gaagtagctgttgggaaaggTgtatttgctgtggtgctagc	16	4	0	0	rs76825834		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:124646710T>A	ENST00000311075.3	-	2	218	c.180A>T	c.(178-180)acA>acT	p.T60T	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	60	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTGGGAAAGGTGTATTTGCTG	0.458																																					p.T60T		Atlas-SNP	.											.	MUC13	57	.	0			c.A180T						PASS	.						214	213	213					3																	124646710		2203	4300	6503	SO:0001819	synonymous_variant	56667	exon2			GAAAGGTGTATTT	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.180A>T	3.37:g.124646710T>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	121	7	0.0578512	NM_033049	Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37																																																																																				.	.	weak		0.458	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		A	124646710	T	A	124646710	2	1	30	1	0	0	0	0	0	0	0	1	9971	1683	59	5		5	MUC13	3	124646710	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	74928168	124646710	73375720	26	22577										
ZIC1	7545	hgsc.bcm.edu	37	chr3	147128808	147128808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	acgggcgagaagccctttccCtgccccttccctggctgtgg	12	16	0	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:147128808C>T	ENST00000282928.4	+	1	1638	c.909C>T	c.(907-909)ccC>ccT	p.P303P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	303					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCCTTTCCCTGCCCCTTCC	0.572																																					p.P303P		Atlas-SNP	.											.	ZIC1	141	.	0			c.C909T						PASS	.						83	87	86					3																	147128808		2203	4300	6503	SO:0001819	synonymous_variant	7545	exon1			CTTTCCCTGCCCC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.909C>T	3.37:g.147128808C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	74	13	0.175676	NM_003412	Q2M3N1	Silent	SNP	ENST00000282928.4	37	CCDS3136.1																																																																																			.	.	none		0.572	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		T	147128808	C	T	147128808	2	4	30	1	0	0	0	0	0	0	0	1	17675	668	24	2		2	ZIC1	3	147128808	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	22482098	147128808	50893622	27	22578										
AGTR1	185	hgsc.bcm.edu	37	chr3	148459567	148459567	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttatggcaattgtgcttttcTttttcttttcctggattccc	6	9	2	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:148459567T>G	ENST00000497524.1	+	2	1136	c.745T>G	c.(745-747)Ttt>Gtt	p.F249V	AGTR1_ENST00000404754.2_Missense_Mutation_p.F249V|AGTR1_ENST00000349243.3_Missense_Mutation_p.F249V|AGTR1_ENST00000418473.2_Missense_Mutation_p.F249V|AGTR1_ENST00000475347.1_Missense_Mutation_p.F249V|AGTR1_ENST00000402260.1_Missense_Mutation_p.F249V|AGTR1_ENST00000542281.1_Missense_Mutation_p.F249V|AGTR1_ENST00000474935.1_Missense_Mutation_p.F249V|AGTR1_ENST00000461609.1_Missense_Mutation_p.F249V	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	249					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGTGCTTTTCTTTTTCTTTTC	0.343																																					p.F284V		Atlas-SNP	.											.	AGTR1	63	.	0			c.T850G						PASS	.						55	59	58					3																	148459567		2203	4300	6503	SO:0001583	missense	185	exon4			CTTTTCTTTTTCT	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.745T>G	3.37:g.148459567T>G	ENSP00000419422:p.Phe249Val	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	129	28	0.217054	NM_031850	Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128394	0.77549	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82151	-0.0599	10	0.87932	D	0	-19.2182	15.6059	0.76672	0.0:0.0:0.0:1.0	.	249	P30556	AGTR1_HUMAN	V	249	ENSP00000419422:F249V;ENSP00000273430:F249V;ENSP00000443186:F249V;ENSP00000398832:F249V;ENSP00000385612:F249V;ENSP00000419783:F249V;ENSP00000418084:F249V;ENSP00000418851:F249V;ENSP00000385641:F249V	ENSP00000273430:F249V	F	+	1	0	AGTR1	149942257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.081000	0.62600	0.533000	0.62120	TTT	.	.	none		0.343	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			G	148459567	T	G	148459567	3	3	30	1	0	0	0	0	1	0	0	0	401	1609	56	5	747	5	AGTR1	3	148459567	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	1330759	148459567	49562863	28	22579										
PTX3	5806	hgsc.bcm.edu	37	chr3	157160548	157160548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tcctgagggaggaatcctgcAgattggccaagaaaagaatg	13	7	0	4			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:157160548A>G	ENST00000295927.3	+	3	1071	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	309	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGAATCCTGCAGATTGGCCAA	0.502																																					p.Q309R		Atlas-SNP	.											.	PTX3	27	.	0			c.A926G						PASS	.						123	119	121					3																	157160548		2203	4300	6503	SO:0001583	missense	5806	exon3			TCCTGCAGATTGG	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.926A>G	3.37:g.157160548A>G	ENSP00000295927:p.Gln309Arg	Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	230	43	0.186957	NM_002852	B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688570	0.68271	.	.	ENSG00000163661	ENST00000295927	T	0.06294	3.32	5.97	3.59	0.41128	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.055526	0.85682	D	0.000000	T	0.19886	0.0478	M	0.70275	2.135	0.54753	D	0.999983	D	0.89917	1.0	D	0.79784	0.993	T	0.00158	-1.1975	10	0.62326	D	0.03	-23.4043	8.0147	0.30374	0.8124:0.0:0.0655:0.1221	.	309	P26022	PTX3_HUMAN	R	309	ENSP00000295927:Q309R	ENSP00000295927:Q309R	Q	+	2	0	PTX3	158643242	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.087000	0.76893	0.502000	0.28037	0.533000	0.62120	CAG	.	.	none		0.502	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		G	157160548	A	G	157160548	3	3	30	1	0	0	0	0	1	0	0	0	12822	188	7	3	936	3	PTX3	3	157160548	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	8700981	157160548	40861882	29	22580										
SI	6476	hgsc.bcm.edu	37	chr3	164730788	164730788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	attaacagcttcatcttccgTtagagttttatctattgtta	5	7	3	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:164730788T>C	ENST00000264382.3	-	34	4104	c.4042A>G	c.(4042-4044)Acg>Gcg	p.T1348A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1348	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCATCTTCCGTTAGAGTTTTA	0.323										HNSCC(35;0.089)																											p.T1348A		Atlas-SNP	.											.	SI	500	.	0			c.A4042G						PASS	.						133	130	131					3																	164730788		2203	4300	6503	SO:0001583	missense	6476	exon34			CTTCCGTTAGAGT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4042A>G	3.37:g.164730788T>C	ENSP00000264382:p.Thr1348Ala	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	151	30	0.198675	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753476	0.31046	.	.	ENSG00000090402	ENST00000264382	D	0.88354	-2.37	4.54	4.54	0.55810	Glycoside hydrolase, superfamily (1);	0.278355	0.36234	N	0.002713	D	0.87055	0.6082	L	0.57536	1.79	0.09310	N	1	B	0.34290	0.447	B	0.44044	0.439	T	0.76386	-0.2978	10	0.25106	T	0.35	.	5.3666	0.16117	0.1734:0.0:0.1805:0.646	.	1348	P14410	SUIS_HUMAN	A	1348	ENSP00000264382:T1348A	ENSP00000264382:T1348A	T	-	1	0	SI	166213482	0.377000	0.25106	0.755000	0.31263	0.660000	0.38997	-0.129000	0.10515	1.876000	0.54355	0.477000	0.44152	ACG	.	.	none		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164730788	T	C	164730788	3	2	30	1	0	0	0	0	1	0	0	0	14297	1725	60	2	1501	2	SI	3	164730788	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	7570240	164730788	33291642	30	22581										
ZBBX	79740	hgsc.bcm.edu	37	chr3	167033615	167033615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tcttcaaattcctcttcataAgtcttattaaattaatgtta	2	7	5	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr3:167033615A>G	ENST00000392766.2	-	15	1537	c.1197T>C	c.(1195-1197)acT>acC	p.T399T	ZBBX_ENST00000307529.5_Silent_p.T399T|ZBBX_ENST00000455345.2_Silent_p.T399T|ZBBX_ENST00000392764.1_Silent_p.T370T|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392767.2_Silent_p.T399T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	399						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTCTTCATAAGTCttattaa	0.269																																					p.T399T		Atlas-SNP	.											.	ZBBX	299	.	0			c.T1197C						PASS	.						39	37	37					3																	167033615		1783	4053	5836	SO:0001819	synonymous_variant	79740	exon15			TTCATAAGTCTTA	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1197T>C	3.37:g.167033615A>G		Somatic	524	0	0		WXS	Illumina HiSeq	Phase_I	570	104	0.182456	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																			.	.	none		0.269	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167033615	A	G	167033615	2	3	30	1	0	0	0	0	0	0	0	1	17513	59	3	3		3	ZBBX	3	167033615	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	2302827	167033615	30988815	31	22582										
MUC7	4589	hgsc.bcm.edu	37	chr4	71347207	71347207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgcaactacaccagctccacTatcttcctcagctccaccag	4	18	2	0	rs78564790	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr4:71347207T>C	ENST00000304887.5	+	3	936	c.746T>C	c.(745-747)cTa>cCa	p.L249P	MUC7_ENST00000456088.1_Missense_Mutation_p.L249P|MUC7_ENST00000413702.1_Missense_Mutation_p.L249P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	249	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.L249P(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACTATCTTCCTCA	0.587																																					p.L249P		Atlas-SNP	.											MUC7,NS,carcinoma,0,1	MUC7	91	1	1	Substitution - Missense(1)	kidney(1)	c.T746C						scavenged	.	C	PRO/LEU,PRO/LEU,PRO/LEU	94,4310		15,64,2123	500	409	440		746,746,746	0	0	4	dbSNP_131	440	410,8182		31,348,3917	no	missense,missense,missense	MUC7	NM_152291.2,NM_001145007.1,NM_001145006.1	98,98,98	46,412,6040	CC,CT,TT		4.7719,2.1344,3.8781	benign,benign,benign	249/378,249/378,249/378	71347207	504,12492	2202	4296	6498	SO:0001583	missense	4589	exon4			CTCCACTATCTTC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.746T>C	4.37:g.71347207T>C	ENSP00000302021:p.Leu249Pro	Somatic	200	9	0.045		WXS	Illumina HiSeq	Phase_I	204	12	0.0588235	NM_001145007	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869923	0.00542	0.021344	0.047719	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.51325	0.71;0.71;0.71	1.28	0.00752	0.14071	.	.	.	.	.	T	0.02649	0.0080	N	0.03608	-0.345	0.53688	P	2.8000000000028002E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	7	.	.	.	.	2.2139	0.03955	0.3956:0.3735:0.0:0.2309	.	249	Q8TAX7	MUC7_HUMAN	P	249	ENSP00000407422:L249P;ENSP00000400585:L249P;ENSP00000302021:L249P	.	L	+	2	0	MUC7	71381796	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.185000	0.09684	-0.705000	0.05035	-0.349000	0.07799	CTA	T|0.935;C|0.065	0.065	strong		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		C	71347207	T	C	71347207	3	2	30	1	0	0	0	0	1	0	0	0	9981	1522	53	3	752	3	MUC7	4	71347207	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10		71347207	119807069	32	22583										
BMP3	651	hgsc.bcm.edu	37	chr4	81967644	81967644	+	Frame_Shift_Del	DEL	A	A	-													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	aatttgatgagcagaccctgAaaaaggcaaggagaaagcag							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr4:81967644delA	ENST00000282701.2	+	2	1389	c.1069delA	c.(1069-1071)aaafs	p.K358fs		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	358					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGACCCTGAAAAAGGCAAG	0.478																																					p.L356fs		Atlas-Indel	.											.	BMP3	59	.	0			c.1068delG						PASS	.						74	71	72					4																	81967644		2203	4300	6503	SO:0001589	frameshift_variant	651	exon2			.	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1069delA	4.37:g.81967644delA	ENSP00000282701:p.Lys358fs	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	115	19	0.165217	NM_001201	Q4VAS5	Frame_Shift_Del	DEL	ENST00000282701.2	37	CCDS3588.1																																																																																			.	.	none		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			-	81967644	A	-	81967644	7	5	30	1	0	1	0	1	0	0	0	0	1461	247	9	0	1075	0	BMP3	4	81967644	Frame_Shift_Del	DEL	A	TCGA-GS-A9TU-01A-11D-A382-10	10620437	81967644	109186632	33	22584										
NHEDC1	150159	hgsc.bcm.edu	37	chr4	103826800	103826800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gccaaacttagagtggcaacAgatatgcctacaacagatga	9	9	0	4			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr4:103826800A>G	ENST00000296422.7	-	11	1344	c.1203T>C	c.(1201-1203)tcT>tcC	p.S401S	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Silent_p.S401S	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	401					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.S401S(2)									GAGTGGCAACAGATATGCCTA	0.303																																					p.S401S		Atlas-SNP	.											NHEDC1,NS,carcinoma,0,3	.	.	3	2	Substitution - coding silent(2)	kidney(2)	c.T1203C						scavenged	.						49	49	49					4																	103826800		2199	4295	6494	SO:0001819	synonymous_variant	150159	exon11			GGCAACAGATATG	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1203T>C	4.37:g.103826800A>G		Somatic	247	14	0.0566802		WXS	Illumina HiSeq	Phase_I	198	15	0.0757576	NM_001100874	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																			.	.	none		0.303	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103826800	A	G	103826800	2	3	30	1	0	0	0	0	0	0	0	1	10400	175	7	3		3	NHEDC1	4	103826800	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	21859156	103826800	87327476	34	22585										
FAT4	79633	hgsc.bcm.edu	37	chr4	126336502	126336502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ctaacagtggtggctacagaCaaaggtcaaccatctctctc	8	12	3	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr4:126336502C>T	ENST00000394329.3	+	5	6397	c.6384C>T	c.(6382-6384)gaC>gaT	p.D2128D	FAT4_ENST00000335110.5_Silent_p.D426D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2128	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCTACAGACAAAGGTCAAC	0.413																																					p.D2128D		Atlas-SNP	.											FAT4_ENST00000394329,NS,carcinoma,+2,2	FAT4	1752	2	0			c.C6384T						PASS	.						84	83	84					4																	126336502		2203	4300	6503	SO:0001819	synonymous_variant	79633	exon5			TACAGACAAAGGT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6384C>T	4.37:g.126336502C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	85	23	0.270588	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			.	.	none		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126336502	C	T	126336502	2	4	30	1	0	0	0	0	0	0	0	1	5692	477	17	2		2	FAT4	4	126336502	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	22509702	126336502	64817774	35	22586										
HMGB2	3148	hgsc.bcm.edu	37	chr4	174254780	174254780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gacattttgccccgcggcttGttggggtctcctttacccat	10	13	1	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr4:174254780G>C	ENST00000296503.5	-	2	894	c.21C>G	c.(19-21)aaC>aaG	p.N7K	HMGB2_ENST00000438704.2_Missense_Mutation_p.N7K|HMGB2_ENST00000446922.2_Missense_Mutation_p.N7K			P26583	HMGB2_HUMAN	high mobility group box 2	7					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCCGCGGCTTGTTGGGGTCTC	0.632																																					p.N7K		Atlas-SNP	.											.	HMGB2	24	.	0			c.C21G						PASS	.						66	69	68					4																	174254780		2203	4300	6503	SO:0001583	missense	3148	exon1			CGGCTTGTTGGGG		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.21C>G	4.37:g.174254780G>C	ENSP00000296503:p.Asn7Lys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	85	16	0.188235	NM_001130689	B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.145864	0.01714	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.45	3.72	0.42706	High mobility group, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.09423	0.0232	L	0.37800	1.135	0.48236	D	0.999614	B	0.02656	0.0	B	0.06405	0.002	T	0.11591	-1.0581	10	0.07030	T	0.85	.	10.0298	0.42094	0.0722:0.0:0.7896:0.1382	.	7	P26583	HMGB2_HUMAN	K	7	ENSP00000296503:N7K;ENSP00000393448:N7K;ENSP00000404912:N7K;ENSP00000423001:N7K	ENSP00000296503:N7K	N	-	3	2	HMGB2	174491355	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	0.752000	0.26362	0.672000	0.31204	-0.309000	0.09137	AAC	.	.	none		0.632	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		C	174254780	G	C	174254780	3	2	30	1	0	0	0	0	1	0	0	0	7226	1368	48	4	624	4	HMGB2	4	174254780	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	47918278	174254780	16899496	36	22587										
ZDHHC11	79844	hgsc.bcm.edu	37	chr5	833915	833915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cagatgagcccagggcgccaGctccttgctgtggggcaaaa	14	12	0	2	rs605088	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr5:833915G>T	ENST00000283441.8	-	7	1291	c.908C>A	c.(907-909)gCt>gAt	p.A303D	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.A303D|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A303D(10)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGGGCGCCAGCTCCTTGCTG	0.438																																					p.A303D		Atlas-SNP	.											ZDHHC11_ENST00000424784,NS,carcinoma,0,10	ZDHHC11	97	10	10	Substitution - Missense(10)	prostate(8)|liver(2)	c.C908A						scavenged	.						8	8	8					5																	833915		2154	4191	6345	SO:0001583	missense	79844	exon7			GCGCCAGCTCCTT	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.908C>A	5.37:g.833915G>T	ENSP00000283441:p.Ala303Asp	Somatic	350	102	0.291429		WXS	Illumina HiSeq	Phase_I	286	87	0.304196	NM_024786	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	515	0.2358058608058608	134	0.27235772357723576	83	0.2292817679558011	145	0.2534965034965035	153	0.20184696569920843	t	0.056	-1.237364	0.01493	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.32023	1.47;1.47	1.32	-2.64	0.06114	.	159.412000	0.01375	U	0.012736	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	9	0.30854	T	0.27	.	0.5085	0.00591	0.2028:0.3259:0.2042:0.267	rs605088;rs4045358;rs59272565	303	Q9H8X9	ZDH11_HUMAN	D	303	ENSP00000397719:A303D;ENSP00000283441:A303D	ENSP00000283441:A303D	A	-	2	0	ZDHHC11	886915	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.877000	0.00717	-2.317000	0.00644	-1.448000	0.01049	GCT	G|0.500;T|0.500	0.500	strong		0.438	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	833915	G	T	833915	3	4	30	1	0	0	0	0	1	0	0	0	17598	971	34	4	354	4	ZDHHC11	5	833915	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10		833915	180081345	37	22588										
GCM2	9247	hgsc.bcm.edu	37	chr6	10875031	10875031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gtcacaggtagctttgtaaaCatcagactttgggaaggaag	12	6	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr6:10875031C>T	ENST00000379491.4	-	5	865	c.718G>A	c.(718-720)Gtt>Att	p.V240I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	240					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCTTTGTAAACATCAGACTTT	0.463																																					p.V240I		Atlas-SNP	.											.	GCM2	81	.	0			c.G718A						PASS	.						135	127	130					6																	10875031		2203	4300	6503	SO:0001583	missense	9247	exon5			TGTAAACATCAGA	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.718G>A	6.37:g.10875031C>T	ENSP00000368805:p.Val240Ile	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	91	31	0.340659	NM_004752	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182644	0.21870	.	.	ENSG00000124827	ENST00000379491	T	0.67865	-0.29	5.8	2.96	0.34315	.	0.437579	0.28125	N	0.016504	T	0.31949	0.0813	N	0.22421	0.69	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.15150	-1.0447	10	0.37606	T	0.19	-1.735	9.5725	0.39436	0.1966:0.5631:0.2402:0.0	.	240	O75603	GCM2_HUMAN	I	240	ENSP00000368805:V240I	ENSP00000368805:V240I	V	-	1	0	GCM2	10983017	0.770000	0.28543	0.896000	0.35187	0.796000	0.44982	0.359000	0.20233	0.807000	0.34208	-0.824000	0.03097	GTT	.	.	none		0.463	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			T	10875031	C	T	10875031	3	4	30	1	0	0	0	0	1	0	0	0	6298	478	17	2	806	2	GCM2	6	10875031	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		10875031	160240036	38	22589										
SLC17A4	10050	hgsc.bcm.edu	37	chr6	25771240	25771240	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cttacgtcttctatatctttGgtgagtgtgcttttcaaatc	7	8	4	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr6:25771240G>C	ENST00000377905.4	+	6	825	c.706G>C	c.(706-708)Gga>Cga	p.G236R	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	236					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATATCTTTGGTGAGTGTGC	0.403																																					p.G236R		Atlas-SNP	.											.	SLC17A4	79	.	0			c.G706C						PASS	.						235	222	226					6																	25771240		2203	4300	6503	SO:0001630	splice_region_variant	10050	exon6			ATCTTTGGTGAGT	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.706+1G>C	6.37:g.25771240G>C		Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	209	53	0.253589	NM_005495	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686492	0.88639	.	.	ENSG00000146039	ENST00000377905	T	0.63096	-0.02	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.50627	D	0.000113	D	0.84777	0.5547	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89223	0.3572	10	0.87932	D	0	.	15.3921	0.74755	0.0:0.0:1.0:0.0	.	236	Q9Y2C5	S17A4_HUMAN	R	236	ENSP00000367137:G236R	ENSP00000367137:G236R	G	+	1	0	SLC17A4	25879219	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.752000	0.74898	2.791000	0.96007	0.563000	0.77884	GGA	.	.	none		0.403	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1		Missense_Mutation	C	25771240	G	C	25771240	5	2	30	1	0	0	0	0	0	0	1	0	14419	1362	47	4	724	4	SLC17A4	6	25771240	Splice_Site	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	14896209	25771240	145343827	39	22590										
CCND3	896	hgsc.bcm.edu	37	chr6	41903710	41903710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggctgtgacatctgtaggagTgctggtctggctgggccctt	16	9	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr6:41903710T>C	ENST00000372991.4	-	5	1045	c.847A>G	c.(847-849)Act>Gct	p.T283A	CCND3_ENST00000372987.4_Missense_Mutation_p.T233A|CCND3_ENST00000510503.1_Missense_Mutation_p.H156R|CCND3_ENST00000511642.1_Missense_Mutation_p.T202A|CCND3_ENST00000415497.2_Missense_Mutation_p.T87A|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000414200.2_Missense_Mutation_p.T211A|CCND3_ENST00000372988.4_Missense_Mutation_p.T202A	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	283					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)	p.T283P(1)|p.T283A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGTAGGAGTGCTGGTCTGG	0.667			T	IGH@	MM																																p.T283A		Atlas-SNP	.		Dom	yes		6	6p21	896	cyclin D3		L	CCND3,NS,lymphoid_neoplasm,0,2	CCND3	40	2	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.A847G						PASS	.						34	39	37					6																	41903710		2203	4300	6503	SO:0001583	missense	896	exon5			TAGGAGTGCTGGT		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.847A>G	6.37:g.41903710T>C	ENSP00000362082:p.Thr283Ala	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	69	15	0.217391	NM_001760	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	23.1|23.1	4.377335|4.377335	0.82682|0.82682	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000510503|ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000415497;ENST00000414200	T|T;T;T;T;T;T	0.36878|0.54071	1.23|2.69;2.7;2.69;2.7;1.08;0.59	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.63224|0.63224	0.2493|0.2493	M|M	0.73962|0.73962	2.25|2.25	0.31265|0.31265	N|N	0.692446|0.692446	.|D;D;D	.|0.69078	.|0.982;0.993;0.997	.|D;D;D	.|0.75020	.|0.952;0.978;0.985	T|T	0.66830|0.66830	-0.5824|-0.5824	7|10	0.23891|0.56958	T|D	0.37|0.05	.|.	14.0609|14.0609	0.64800|0.64800	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|211;283;233	.|E9PAS4;P30281;Q5T8J1	.|.;CCND3_HUMAN;.	R|A	156|283;202;233;202;87;211	ENSP00000425986:H156R|ENSP00000362082:T283A;ENSP00000426212:T202A;ENSP00000362078:T233A;ENSP00000362079:T202A;ENSP00000401595:T87A;ENSP00000397545:T211A	ENSP00000425986:H156R|ENSP00000362078:T233A	H|T	-|-	2|1	0|0	CCND3|CCND3	42011688|42011688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.295000|7.295000	0.78780|0.78780	2.155000|2.155000	0.67459|0.67459	0.482000|0.482000	0.46254|0.46254	CAC|ACT	.	.	none		0.667	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		C	41903710	T	C	41903710	3	2	30	1	0	0	0	0	1	0	0	0	2918	1696	59	2	35	2	CCND3	6	41903710	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	16132470	41903710	129211357	40	22591										
ZNF804B	219578	hgsc.bcm.edu	37	chr7	88963200	88963200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccatctccataaactctaaaAttttgcaagacaaacacgac	3	12	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:88963200A>C	ENST00000333190.4	+	4	1513	c.904A>C	c.(904-906)Att>Ctt	p.I302L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	302							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACTCTAAAATTTTGCAAGA	0.343										HNSCC(36;0.09)																											p.I302L		Atlas-SNP	.											ZNF804B,NS,carcinoma,0,1	ZNF804B	322	1	0			c.A904C						PASS	.						51	52	51					7																	88963200		2203	4299	6502	SO:0001583	missense	219578	exon4			TCTAAAATTTTGC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.904A>C	7.37:g.88963200A>C	ENSP00000329638:p.Ile302Leu	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	160	37	0.23125	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	2.668	-0.278204	0.05679	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.14	-1.67	0.08238	.	0.708385	0.13164	N	0.408832	T	0.03959	0.0111	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42949	-0.9421	10	0.22706	T	0.39	-4.674	2.5809	0.04818	0.4096:0.3386:0.1418:0.11	.	302	A4D1E1	Z804B_HUMAN	L	302	ENSP00000329638:I302L	ENSP00000329638:I302L	I	+	1	0	ZNF804B	88801136	0.140000	0.22579	0.018000	0.16275	0.236000	0.25371	1.179000	0.31993	-0.158000	0.11040	0.533000	0.62120	ATT	.	.	none		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		C	88963200	A	C	88963200	3	2	30	1	0	0	0	0	1	0	0	0	18168	101	4	5	918	5	ZNF804B	7	88963200	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10		88963200	70175463	41	22592										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110763849	110763849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccaagctggaatcactcatgCtgaacagcaatgctctcagt	8	12	3	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:110763849C>A	ENST00000422987.3	+	2	1852	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L341M|LRRN3_ENST00000308478.5_Missense_Mutation_p.L341M	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	341					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCACTCATGCTGAACAGCAA	0.453																																					p.L341M		Atlas-SNP	.											.	LRRN3	132	.	0			c.C1021A						PASS	.						106	100	102					7																	110763849		2203	4300	6503	SO:0001583	missense	54674	exon2			CTCATGCTGAACA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1021C>A	7.37:g.110763849C>A	ENSP00000412417:p.Leu341Met	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	149	56	0.375839	NM_018334	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659574	0.47467	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	4.01	0.46588	.	0.000000	0.52532	D	0.000077	D	0.89480	0.6727	M	0.91717	3.235	0.48571	D	0.999679	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.59425	D	0.04	.	12.3926	0.55366	0.0:0.8648:0.0:0.1352	.	341	Q9H3W5	LRRN3_HUMAN	M	341	ENSP00000312001:L341M;ENSP00000397312:L341M;ENSP00000412417:L341M	ENSP00000312001:L341M	L	+	1	2	LRRN3	110551085	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	2.694000	0.47035	0.807000	0.34208	0.650000	0.86243	CTG	.	.	none		0.453	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		A	110763849	C	A	110763849	3	1	30	1	0	0	0	0	1	0	0	0	9036	796	28	4	1023	4	LRRN3	7	110763849	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	21800649	110763849	48374814	42	22593										
FLNC	2318	hgsc.bcm.edu	37	chr7	128475620	128475620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gggcgccctggtggacaactGcgcccccggtgagtgggcca	17	14	0	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:128475620G>A	ENST00000325888.8	+	2	854	c.593G>A	c.(592-594)tGc>tAc	p.C198Y	FLNC_ENST00000346177.6_Missense_Mutation_p.C198Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	198	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGACAACTGCGCCCCCGGT	0.622																																					p.C198Y		Atlas-SNP	.											.	FLNC	339	.	0			c.G593A						PASS	.						33	38	37					7																	128475620		2072	4218	6290	SO:0001583	missense	2318	exon2			ACAACTGCGCCCC	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.593G>A	7.37:g.128475620G>A	ENSP00000327145:p.Cys198Tyr	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_001127487	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815232	0.70912	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.93763	-3.28;-3.28	5.63	5.63	0.86233	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95581	0.8646	10	0.87932	D	0	.	18.6585	0.91463	0.0:0.0:1.0:0.0	.	198;198	Q14315-2;Q14315	.;FLNC_HUMAN	Y	198	ENSP00000327145:C198Y;ENSP00000344002:C198Y	ENSP00000327145:C198Y	C	+	2	0	FLNC	128262856	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	9.869000	0.99810	2.659000	0.90383	0.561000	0.74099	TGC	.	.	none		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128475620	G	A	128475620	3	1	30	1	0	0	0	0	1	0	0	0	5935	1319	46	2	599	2	FLNC	7	128475620	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	17711771	128475620	30663043	43	22594										
OR2A5	393046	hgsc.bcm.edu	37	chr7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ctgcaatattctgtcatcatGagatggggagtgtgcacagt	12	7	3	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512																																					p.M136I		Atlas-SNP	.											OR2A5,NS,carcinoma,0,1	OR2A5	78	1	1	Substitution - Missense(1)	prostate(1)	c.G408A						PASS	.						187	193	191					7																	143747902		2128	4247	6375	SO:0001583	missense	393046	exon1			CATCATGAGATGG	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.408G>A	7.37:g.143747902G>A	ENSP00000386208:p.Met136Ile	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	204	49	0.240196	NM_012365	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190889	0.21954	.	.	ENSG00000221836	ENST00000408906	T	0.00551	6.65	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001688	T	0.01156	0.0038	M	0.83223	2.63	0.29425	N	0.860251	B	0.20164	0.042	B	0.23852	0.049	T	0.07986	-1.0744	10	0.72032	D	0.01	.	16.3726	0.83370	0.0:0.0:1.0:0.0	.	136	Q96R48	OR2A5_HUMAN	I	136	ENSP00000386208:M136I	ENSP00000386208:M136I	M	+	3	0	OR2A5	143378835	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.248000	0.58760	2.728000	0.93425	0.557000	0.71058	ATG	.	.	none		0.512	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143747902	G	A	143747902	3	1	30	1	0	0	0	0	1	0	0	0	10981	1290	45	2	410	2	OR2A5	7	143747902	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	15272282	143747902	15390761	44	22595										
CNTNAP2	26047	hgsc.bcm.edu	37	chr7	147914474	147914474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tccagcagcagagtagacaaCgctcccgaccagcagaactc	9	15	0	3	rs112483670	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:147914474C>T	ENST00000361727.3	+	19	3621	c.3105C>T	c.(3103-3105)aaC>aaT	p.N1035N	CNTNAP2_ENST00000538075.1_Silent_p.N94N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1035					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAGTAGACAACGCTCCCGACC	0.532										HNSCC(39;0.1)			C|||	19	0.00379393	0.0106	0.0029	5008	,	,		18370	0.003		0.0	False		,,,				2504	0.0				p.N1035N		Atlas-SNP	.											CNTNAP2,NS,carcinoma,0,1	CNTNAP2	392	1	0			c.C3105T						PASS	.	C		30,4376	36.0+/-67.5	0,30,2173	124	122	123		3105	1.3	0	7	dbSNP_132	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CNTNAP2	NM_014141.5		0,32,6471	TT,TC,CC		0.0233,0.6809,0.246		1035/1332	147914474	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	26047	exon19			AGACAACGCTCCC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3105C>T	7.37:g.147914474C>T		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	107	22	0.205607	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																			C|0.997;T|0.003	0.003	strong		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147914474	C	T	147914474	2	4	30	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	147914474	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	4166572	147914474	11224189	45	22596										
MLL3	58508	hgsc.bcm.edu	37	chr7	151962257	151962257	+	Silent	SNP	C	C	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	aactgatctaagaggtctccCgggctgtcgcacactgcaca					rs62478357		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:151962257C>T	ENST00000262189.6	-	8	1268	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	KMT2C_ENST00000355193.2_Silent_p.P350P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	350					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGAGGTCTCCCGGGCTGTCGC	0.398																																					p.P350P		Atlas-SNP	.											MLL3_ENST00000355193,NS,carcinoma,-1,2	MLL3	1564	2	0			c.G1050A						scavenged	.						146	134	138					7																	151962257		2203	4296	6499	SO:0001819	synonymous_variant	58508	exon8			GTCTCCCGGGCTG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1050G>A	7.37:g.151962257C>T		Somatic	213	4	0.0187793		WXS	Illumina HiSeq	Phase_I	214	12	0.0560748	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			.	.	weak		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962257	C	T	151962257	2	4	30	1	0	0	0	0	0	0	0	1	9622	639	23	1		1	MLL3	7	151962257	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	4047783	151962257	7176406	46	22597	459	2								
MLL3	58508	hgsc.bcm.edu	37	chr7	151962265	151962265	+	Missense_Mutation	SNP	C	C	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	taagaggtctcccgggctgtCgcacactgcacagtttgcat					rs201834857		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr7:151962265C>T	ENST00000262189.6	-	8	1260	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	348					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D348N(2)									CCCGGGCTGTCGCACACTGCA	0.383																																					p.D348N		Atlas-SNP	.											MLL3_ENST00000355193,trunk,malignant_melanoma,0,2	MLL3	1564	2	2	Substitution - Missense(2)	skin(2)	c.G1042A						scavenged	.						112	101	104					7																	151962265		2203	4296	6499	SO:0001583	missense	58508	exon8			GGCTGTCGCACAC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1042G>A	7.37:g.151962265C>T	ENSP00000262189:p.Asp348Asn	Somatic	202	4	0.019802		WXS	Illumina HiSeq	Phase_I	194	10	0.0515464	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730606	0.48939	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98807	-5.15;-5.15	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43919	U	0.000512	D	0.98516	0.9505	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98479	1.0604	10	0.23302	T	0.38	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	348	Q8NEZ4	MLL3_HUMAN	N	348	ENSP00000262189:D348N;ENSP00000347325:D348N	ENSP00000262189:D348N	D	-	1	0	MLL3	151593198	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.772000	0.85439	2.271000	0.75665	0.557000	0.71058	GAC	.	.	weak		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962265	C	T	151962265	3	4	30	1	0	0	0	0	1	0	0	0	9622	884	31	1	13901	1	MLL3	7	151962265	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	8	151962265	7176398	47	22598	459	2								
FAM86B1	85002	hgsc.bcm.edu	37	chr8	12044264	12044264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttctgcaaggtagagggcggCatcccatgtgaccaggcctg	14	11	1	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr8:12044264C>T	ENST00000448228.2	-	4	368	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	FAM86B1_ENST00000321602.8_Start_Codon_SNP_p.M1I|FAM86B1_ENST00000533852.2_Missense_Mutation_p.A141T|FAM86B1_ENST00000533513.1_Missense_Mutation_p.A141T|FAM86B1_ENST00000534520.1_Missense_Mutation_p.A107T	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	107										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TAGAGGGCGGCATCCCATGTG	0.612																																					p.A107T		Atlas-SNP	.											FAM86B1,NS,carcinoma,+2,1	FAM86B1	7	1	0			c.G319A						scavenged	.						1	1	1					8																	12044264		461	1070	1531	SO:0001583	missense	85002	exon4			GGGCGGCATCCCA	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.319G>A	8.37:g.12044264C>T	ENSP00000407067:p.Ala107Thr	Somatic	269	19	0.070632		WXS	Illumina HiSeq	Phase_I	268	36	0.134328	NM_001083537		Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.97|11.97	1.796969|1.796969	0.31777|0.31777	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000431227;ENST00000340537;ENST00000448228;ENST00000534520;ENST00000526708;ENST00000524571;ENST00000533513|ENST00000321602;ENST00000526802	T;T;T;T;T|T	0.36340|0.24350	1.26;2.52;1.26;1.56;4.06|1.86	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	10.022600|.	0.01570|.	U|.	0.020538|.	T|T	0.33731|0.33731	0.0873|0.0873	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	P;P|B;B	0.46457|0.15719	0.878;0.749|0.014;0.003	D;P|B;B	0.64144|0.08055	0.922;0.624|0.003;0.002	T|T	0.42050|0.42050	-0.9474|-0.9474	10|9	0.72032|0.87932	D|D	0.01|0	.|.	8.2654|8.2654	0.31810|0.31810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107;141|1;38	Q8N7N1;E9PN63|F6QN85;Q4KMP3	F86B1_HUMAN;.|.;.	T|I	141;107;107;107;141;79;141|1;102	ENSP00000342610:A107T;ENSP00000407067:A107T;ENSP00000431362:A107T;ENSP00000432790:A79T;ENSP00000435201:A141T|ENSP00000439686:M1I	ENSP00000342610:A107T|ENSP00000439686:M1I	A|M	-|-	1|3	0|0	FAM86B1|FAM86B1	12081673|12081673	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.049000|0.049000	0.14656|0.14656	6.283000|6.283000	0.72646|0.72646	0.950000|0.950000	0.37743|0.37743	0.173000|0.173000	0.16961|0.16961	GCC|ATG	.	.	none		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		T	12044264	C	T	12044264	3	4	30	1	0	0	0	0	1	0	0	0	5644	710	25	2	587	2	FAM86B1	8	12044264	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		12044264	134319758	48	22599										
MLLT3	4300	hgsc.bcm.edu	37	chr9	20414310	20414310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ctgctgctactgctgctgctActgctgctgctgctgctgct	11	14	0	0	rs148318848	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr9:20414310A>G	ENST00000380338.4	-	5	820	c.534T>C	c.(532-534)agT>agC	p.S178S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S175S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	178	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.527			T	MLL	ALL								A|||	169	0.033746	0.0272	0.0231	5008	,	,		12860	0.0169		0.0308	False		,,,				2504	0.0706				p.S178S		Atlas-SNP	.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,0,1	MLLT3	125	1	0			c.T534C						scavenged	.						25	33	30					9																	20414310		2142	4195	6337	SO:0001819	synonymous_variant	4300	exon5			GCTGCTACTGCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.534T>C	9.37:g.20414310A>G		Somatic	162	6	0.037037		WXS	Illumina HiSeq	Phase_I	155	10	0.0645161	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																			.	.	weak		0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		G	20414310	A	G	20414310	2	3	30	1	0	0	0	0	0	0	0	1	9628	388	14	2		2	MLLT3	9	20414310	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10		20414310	120799121	49	22600										
BAT2L1	84726	hgsc.bcm.edu	37	chr9	134357813	134357813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgacttgagtgccgagtctcGggagtcgtctgcgacctcct	13	12	2	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr9:134357813G>A	ENST00000357304.4	+	20	5094	c.5039G>A	c.(5038-5040)cGg>cAg	p.R1680Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R986Q|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R986Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1680							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCGAGTCTCGGGAGTCGTCT	0.602																																					p.R1680Q		Atlas-SNP	.											.	PRRC2B	266	.	0			c.G5039A						PASS	.						145	151	149					9																	134357813		1979	4166	6145	SO:0001583	missense	84726	exon20			AGTCTCGGGAGTC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5039G>A	9.37:g.134357813G>A	ENSP00000349856:p.Arg1680Gln	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	173	48	0.277457	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004885	0.74932	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.02280	4.36;4.71;4.36	4.92	4.92	0.64577	.	0.000000	0.37577	U	0.002038	T	0.05686	0.0149	N	0.21142	0.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.956	T	0.62364	-0.6870	10	0.12103	T	0.63	-27.4773	17.105	0.86660	0.0:0.0:1.0:0.0	.	412;1680	Q5JSZ8;Q5JSZ5	.;PRC2B_HUMAN	Q	986;1680;986	ENSP00000384606:R986Q;ENSP00000349856:R1680Q;ENSP00000398853:R986Q	ENSP00000349856:R1680Q	R	+	2	0	PRRC2B	133347634	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	4.534000	0.60622	2.275000	0.75901	0.561000	0.74099	CGG	.	.	none		0.602	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134357813	G	A	134357813	3	1	30	1	0	0	0	0	1	0	0	0	1320	1116	39	1	5117	1	BAT2L1	9	134357813	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	113943503	134357813	6855618	50	22601										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	546	2	0.003663		WXS	Illumina HiSeq	Phase_I	435	9	0.0206897	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	30	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		135438933	95814	51	22602										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016742	1016742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgatgatgactgtgtgagtaCttggagtcaccaaggaggtg	15	5	1	4	rs201591120		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:1016742C>T	ENST00000421673.2	-	31	6109	c.6059G>A	c.(6058-6060)aGt>aAt	p.S2020N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2020	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGTGAGTACTTGGAGTCAC	0.542																																					p.S2020N		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-1,2	MUC6	408	2	0			c.G6059A						scavenged	.						738	674	696					11																	1016742		2202	4295	6497	SO:0001583	missense	4588	exon31			TGAGTACTTGGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6059G>A	11.37:g.1016742C>T	ENSP00000406861:p.Ser2020Asn	Somatic	566	6	0.0106007		WXS	Illumina HiSeq	Phase_I	446	6	0.0134529	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	52	0.023809523809523808	3	0.006097560975609756	5	0.013812154696132596	1	0.0017482517482517483	43	0.05672823218997362	C	5.425	0.263615	0.10294	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	2.8	-0.641	0.11490	.	.	.	.	.	T	0.01835	0.0058	L	0.50333	1.59	0.09310	N	1	B	0.23650	0.089	B	0.12156	0.007	T	0.17868	-1.0355	9	0.25106	T	0.35	.	12.094	0.53744	0.0:0.5059:0.4941:0.0	.	2020	Q6W4X9	MUC6_HUMAN	N	2020	ENSP00000406861:S2020N	ENSP00000406861:S2020N	S	-	2	0	MUC6	1006742	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.006000	0.13152	-0.267000	0.09325	-2.178000	0.00318	AGT	C|0.976;T|0.024	0.024	strong		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016742	C	T	1016742	3	4	30	1	0	0	0	0	1	0	0	0	9980	565	20	2	1272	2	MUC6	11	1016742	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		1016742	133989774	52	22603										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	618	20	0.0323625		WXS	Illumina HiSeq	Phase_I	562	33	0.0587189	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	30	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	107	1016849	133989667	53	22604	460	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	620	20	0.0322581		WXS	Illumina HiSeq	Phase_I	557	31	0.0556553	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	30	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	2	1016851	133989665	54	22605	460	2								
MUC5B	727897	hgsc.bcm.edu	37	chr11	1258241	1258241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cggtccgtggtgggggacgcActggagtttgggaacagctg	19	8	0	0	rs79773885		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:1258241A>G	ENST00000529681.1	+	25	3202	c.3144A>G	c.(3142-3144)gcA>gcG	p.A1048A	MUC5B_ENST00000447027.1_Silent_p.A1051A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGGACGCACTGGAGTTTG	0.672																																					p.A1048A		Atlas-SNP	.											MUC5B,NS,carcinoma,+2,2	MUC5B	473	2	0			c.A3144G						scavenged	.						39	55	50					11																	1258241		2117	4226	6343	SO:0001819	synonymous_variant	727897	exon25			GGACGCACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3144A>G	11.37:g.1258241A>G		Somatic	54	6	0.111111		WXS	Illumina HiSeq	Phase_I	42	7	0.166667	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.500;G|0.500	0.500	weak		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1258241	A	G	1258241	2	3	30	1	0	0	0	0	0	0	0	1	9979	146	6	2		2	MUC5B	11	1258241	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	241390	1258241	133748275	55	22606										
OR4B1	119765	hgsc.bcm.edu	37	chr11	48238768	48238768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttatatgaacattatcagtcGtcaactgtgtcaccttctgg	7	9	4	1	rs149306992	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:48238768G>T	ENST00000309562.2	+	1	425	c.407G>T	c.(406-408)cGt>cTt	p.R136L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTATCAGTCGTCAACTGTGT	0.473																																					p.R136L		Atlas-SNP	.											OR4B1,NS,carcinoma,0,1	OR4B1	52	1	1	Substitution - Missense(1)	lung(1)	c.G407T						scavenged	.						105	101	102					11																	48238768		2201	4298	6499	SO:0001583	missense	119765	exon1			TCAGTCGTCAACT	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.407G>T	11.37:g.48238768G>T	ENSP00000311605:p.Arg136Leu	Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	280	3	0.0107143	NM_001005470	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302925	0.40795	.	.	ENSG00000175619	ENST00000309562	T	0.24908	1.83	5.38	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.116985	0.39083	N	0.001476	T	0.29945	0.0749	M	0.66439	2.03	0.09310	N	1	B	0.32693	0.38	B	0.39339	0.297	T	0.22382	-1.0218	10	0.66056	D	0.02	.	8.4267	0.32733	0.2566:0.0:0.7434:0.0	.	136	Q8NGF8	OR4B1_HUMAN	L	136	ENSP00000311605:R136L	ENSP00000311605:R136L	R	+	2	0	OR4B1	48195344	0.000000	0.05858	0.192000	0.23308	0.884000	0.51177	-1.885000	0.01620	0.646000	0.30693	0.494000	0.49563	CGT	G|1.000;A|0.000	.	alt		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		T	48238768	G	T	48238768	3	4	30	1	0	0	0	0	1	0	0	0	11044	1145	40	4	409	4	OR4B1	11	48238768	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	46980527	48238768	86767748	56	22607										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971190	57971190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	acgagatgactgtgagcaaaGtgccgaacctggcccgcatg	13	11	0	3			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																					p.T155I		Atlas-SNP	.											OR1S2,trunk,malignant_melanoma,0,1	OR1S2	119	1	1	Substitution - Missense(1)	skin(1)	c.C464T						scavenged	.						183	172	176					11																	57971190		2201	4296	6497	SO:0001583	missense	219958	exon1			AGCAAAGTGCCGA	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile	Somatic	210	2	0.00952381		WXS	Illumina HiSeq	Phase_I	188	6	0.0319149	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT	.	.	none		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971190	G	A	57971190	3	1	30	1	0	0	0	0	1	0	0	0	10973	1029	36	2	516	2	OR1S2	11	57971190	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	9732422	57971190	77035326	57	22608										
MS4A8B	83661	hgsc.bcm.edu	37	chr11	60470906	60470906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cctcggctccatcatggcgaCggttctcgtaggggaatacc	12	13	2	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr11:60470906C>T	ENST00000300226.2	+	3	478	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	92						integral component of membrane (GO:0016021)											ATCATGGCGACGGTTCTCGTA	0.552																																					p.T92M		Atlas-SNP	.											.	.	.	.	0			c.C275T						PASS	.						151	139	143					11																	60470906		2203	4300	6503	SO:0001583	missense	83661	exon3			TGGCGACGGTTCT	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.275C>T	11.37:g.60470906C>T	ENSP00000300226:p.Thr92Met	Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	190	45	0.236842	NM_031457	Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.615604|1.615604	0.28801|0.28801	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000525458|ENST00000300226;ENST00000529752	.|T;T	.|0.02301	.|4.35;4.35	3.62|3.62	2.6|2.6	0.31112|0.31112	.|.	.|0.472817	.|0.19530	.|N	.|0.112065	T|T	0.03739|0.03739	0.0106|0.0106	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.964;0.997	.|P;P	.|0.53102	.|0.557;0.718	T|T	0.45818|0.45818	-0.9235|-0.9235	5|10	.|0.31617	.|T	.|0.26	-14.2382|-14.2382	7.6502|7.6502	0.28344|0.28344	0.2522:0.7478:0.0:0.0|0.2522:0.7478:0.0:0.0	.|.	.|92;92	.|E9PQE1;Q9BY19	.|.;M4A8B_HUMAN	W|M	74|92	.|ENSP00000300226:T92M;ENSP00000436857:T92M	.|ENSP00000300226:T92M	R|T	+|+	1|2	2|0	MS4A8B|MS4A8B	60227482|60227482	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.004000|0.004000	0.04260|0.04260	0.804000|0.804000	0.27098|0.27098	1.745000|1.745000	0.51790|0.51790	0.491000|0.491000	0.48974|0.48974	CGG|ACG	.	.	none		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			T	60470906	C	T	60470906	3	4	30	1	0	0	0	0	1	0	0	0	9867	536	19	1	281	1	MS4A8B	11	60470906	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	2499716	60470906	74535610	58	22609										
CASC1	55259	hgsc.bcm.edu	37	chr12	25297343	25297343	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttcctcctcaacttttatttCttcctcctgaattaagtgag	4	11	2	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr12:25297343C>A	ENST00000320267.9	-	8	1021	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	CASC1_ENST00000395987.3_Nonsense_Mutation_p.E320*|CASC1_ENST00000537577.1_Nonsense_Mutation_p.E202*|CASC1_ENST00000354189.5_Nonsense_Mutation_p.E378*|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Nonsense_Mutation_p.E274*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.E255*	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	314										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACTTTTATTTCTTCCTCCTGA	0.348																																					p.E378X		Atlas-SNP	.											.	CASC1	146	.	0			c.G1132T						PASS	.						210	211	210					12																	25297343		2203	4300	6503	SO:0001587	stop_gained	55259	exon9			TTATTTCTTCCTC	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.940G>T	12.37:g.25297343C>A	ENSP00000313141:p.Glu314*	Somatic	577	0	0		WXS	Illumina HiSeq	Phase_I	556	130	0.233813	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Nonsense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347205	0.82022	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.	.	.	4.25	2.36	0.29203	.	0.469935	0.22630	N	0.057588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.813	9.6523	0.39906	0.0:0.8066:0.0:0.1934	.	.	.	.	X	378;320;314;274;202;320;255;124	.	ENSP00000313141:E314X	E	-	1	0	CASC1	25188610	0.029000	0.19370	0.095000	0.20976	0.248000	0.25809	0.256000	0.18351	0.091000	0.17302	-1.161000	0.01788	GAA	.	.	none		0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		A	25297343	C	A	25297343	4	1	30	1	0	0	0	0	0	1	0	0	2660	922	32	4	1242	4	CASC1	12	25297343	Nonsense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		25297343	108554552	59	22610										
OR6C74	254783	hgsc.bcm.edu	37	chr12	55641766	55641767	+	Frame_Shift_Ins	INS	-	-	A													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ataccttcttctcaacagagINSaaaaaaagcattttctacat							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr12:55641766_55641767insA	ENST00000343870.4	+	1	785_786	c.695_696insA	c.(694-699)agaaaafs	p.RK232fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTCAACAGAGAAAAAAAGCAT	0.401																																					p.R232fs		Atlas-Indel	.											.	OR6C74	52	.	0			c.695_696insA						PASS	.																																			SO:0001589	frameshift_variant	254783	exon1			.		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.702dupA	12.37:g.55641773_55641773dupA	ENSP00000342836:p.Arg232fs	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	178	35	0.196629	NM_001005490		Frame_Shift_Ins	INS	ENST00000343870.4	37	CCDS31816.1																																																																																			.	.	none		0.401	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			A	55641767	-	A	55641766	7	5	30	1	0	1	1	0	0	0	0	0	11198	942	33	0	697	0	OR6C74	12	55641766	Frame_Shift_Ins	INS	-	TCGA-GS-A9TU-01A-11D-A382-10	30344423	55641766	78210129	60	22611										
STAB2	55576	hgsc.bcm.edu	37	chr12	104031889	104031889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gtacatgccaagaaggctacCgtggggatggccaagtgtgc	15	9	0	1	rs574176371		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr12:104031889C>T	ENST00000388887.2	+	8	1009	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAAGGCTACCGTGGGGATGG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22400	0.001		0.0	False		,,,				2504	0.0				p.R269C		Atlas-SNP	.											STAB2,rectum,carcinoma,-1,1	STAB2	370	1	0			c.C805T						scavenged	.						181	154	163					12																	104031889		2203	4300	6503	SO:0001583	missense	55576	exon8			GGCTACCGTGGGG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.805C>T	12.37:g.104031889C>T	ENSP00000373539:p.Arg269Cys	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	114	4	0.0350877	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106083	0.56291	.	.	ENSG00000136011	ENST00000388887	T	0.08008	3.14	5.34	2.15	0.27550	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.796511	0.11661	N	0.541825	T	0.19525	0.0469	M	0.79926	2.475	0.41453	D	0.987992	D	0.67145	0.996	P	0.53185	0.72	T	0.04781	-1.0927	10	0.59425	D	0.04	.	7.0182	0.24900	0.5505:0.3579:0.0:0.0916	.	269	Q8WWQ8	STAB2_HUMAN	C	269	ENSP00000373539:R269C	ENSP00000373539:R269C	R	+	1	0	STAB2	102556019	0.088000	0.21588	0.604000	0.28916	0.621000	0.37620	0.494000	0.22467	0.609000	0.30018	0.561000	0.74099	CGT	.	.	none		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104031889	C	T	104031889	3	4	30	1	0	0	0	0	1	0	0	0	15237	652	23	1	835	1	STAB2	12	104031889	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	48390123	104031889	29820006	61	22612										
CCDC60	160777	hgsc.bcm.edu	37	chr12	119942901	119942901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	aattcaaaattcccacaatgCgagtcaccaaccgcaaacca	4	14	2	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr12:119942901C>T	ENST00000327554.2	+	7	1141	c.676C>T	c.(676-678)Cga>Tga	p.R226*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	226										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCCACAATGCGAGTCACCAA	0.517																																					p.R226X		Atlas-SNP	.											.	CCDC60	84	.	0			c.C676T						PASS	.						56	62	60					12																	119942901		2203	4300	6503	SO:0001587	stop_gained	160777	exon7			ACAATGCGAGTCA	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.676C>T	12.37:g.119942901C>T	ENSP00000333374:p.Arg226*	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_178499		Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	39	7.310390	0.98203	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.07	5.07	0.68467	.	0.000000	0.45867	D	0.000322	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7268	13.9816	0.64308	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	.	R	+	1	2	CCDC60	118427284	0.888000	0.30383	0.020000	0.16555	0.003000	0.03518	3.549000	0.53681	2.340000	0.79590	0.650000	0.86243	CGA	.	.	none		0.517	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		T	119942901	C	T	119942901	4	4	30	1	0	0	0	0	0	1	0	0	2831	760	27	1	702	1	CCDC60	12	119942901	Nonsense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	15911012	119942901	13908994	62	22613										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	368	3	0.00815217		WXS	Illumina HiSeq	Phase_I	363	7	0.0192837	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	30	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10		20056679	95113199	63	22614										
TNFSF11	8600	hgsc.bcm.edu	37	chr13	43180940	43180940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tccataaacgttggtggattTtttaagttacggtctggaga	11	5	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr13:43180940T>C	ENST00000239849.6	+	5	991	c.840T>C	c.(838-840)ttT>ttC	p.F280F	TNFSF11_ENST00000398795.2_Silent_p.F207F|TNFSF11_ENST00000544862.1_Silent_p.F207F|TNFSF11_ENST00000358545.2_Silent_p.F207F|TNFSF11_ENST00000405262.2_Silent_p.F207F			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	280					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TTGGTGGATTTTTTAAGTTAC	0.428																																					p.F280F		Atlas-SNP	.											TNFSF11,NS,carcinoma,0,1	TNFSF11	43	1	0			c.T840C						scavenged	.						90	91	90					13																	43180940		2203	4300	6503	SO:0001819	synonymous_variant	8600	exon5			TGGATTTTTTAAG	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.840T>C	13.37:g.43180940T>C		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	210	3	0.0142857	NM_003701	O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	CCDS9384.1																																																																																			.	.	none		0.428	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			C	43180940	T	C	43180940	2	2	30	1	0	0	0	0	0	0	0	1	16299	1838	64	2		2	TNFSF11	13	43180940	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	23124261	43180940	71988938	64	22615										
RNASEH2B	79621	hgsc.bcm.edu	37	chr13	51530597	51530597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ggtaaaaaataaaaaaaaaaTtggaaaggtttgaaactttg	8	1	0	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr13:51530597T>A	ENST00000336617.3	+	11	1325	c.926T>A	c.(925-927)aTt>aAt	p.I309N	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	309					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAAAAAAAAATTGGAAAGGTT	0.313																																					p.I309N		Atlas-SNP	.											RNASEH2B,NS,carcinoma,0,2	RNASEH2B	26	2	0			c.T926A						scavenged	.						17	19	18					13																	51530597		2183	4279	6462	SO:0001583	missense	79621	exon11			AAAAAATTGGAAA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.926T>A	13.37:g.51530597T>A	ENSP00000337623:p.Ile309Asn	Somatic	362	3	0.00828729		WXS	Illumina HiSeq	Phase_I	306	8	0.0261438	NM_024570	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	CCDS9425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.784|8.784	0.928909|0.928909	0.18131|0.18131	.|.	.|.	ENSG00000136104|ENSG00000136104	ENST00000336617|ENST00000539292	D|.	0.96716|.	-4.1|.	5.24|5.24	-0.506|-0.506	0.11989|0.11989	.|.	.|2.449670	.|0.02044	.|N	.|0.049521	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.19778|0.19778	-1.0295|-1.0295	9|7	0.36615|0.54805	T|T	0.2|0.06	26.5704|26.5704	3.18|3.18	0.06581|0.06581	0.3209:0.1761:0.0:0.503|0.3209:0.1761:0.0:0.503	.|.	309|.	Q5TBB1|.	RNH2B_HUMAN|.	N|M	309|307	ENSP00000337623:I309N|.	ENSP00000337623:I309N|ENSP00000441268:L307M	I|L	+|+	2|1	0|2	RNASEH2B|RNASEH2B	50428598|50428598	0.732000|0.732000	0.28121|0.28121	0.256000|0.256000	0.24389|0.24389	0.447000|0.447000	0.32167|0.32167	0.200000|0.200000	0.17257|0.17257	0.011000|0.011000	0.14865|0.14865	-0.256000|-0.256000	0.11100|0.11100	ATT|TTG	.	.	none		0.313	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		A	51530597	T	A	51530597	3	1	30	1	0	0	0	0	1	0	0	0	13413	1493	52	5	968	5	RNASEH2B	13	51530597	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	8349657	51530597	63639281	65	22616										
DHRS12	79758	hgsc.bcm.edu	37	chr13	52346027	52346027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgcccttgggcccaccgctcCgtcagaaccacttgctgcct	9	18	1	1	rs151116008		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr13:52346027C>T	ENST00000444610.2	-	8	649	c.636G>A	c.(634-636)acG>acA	p.T212T	DHRS12_ENST00000218981.1_Silent_p.T163T|DHRS12_ENST00000280056.2_Silent_p.T163T|DHRS12_ENST00000490949.1_5'UTR	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	212							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CCCACCGCTCCGTCAGAACCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18842	0.001		0.0	False		,,,				2504	0.0				p.T212T		Atlas-SNP	.											.	DHRS12	28	.	0			c.G636A						PASS	.	C	,	1,4405	2.1+/-5.4	0,1,2202	70	74	73		489,489	-6.4	0	13	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHRS12	NM_001031719.1,NM_024705.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	163/272,163/243	52346027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79758	exon8			CCGCTCCGTCAGA	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.636G>A	13.37:g.52346027C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	113	26	0.230089	NM_001270424	Q96GB2|Q9H8H1	Silent	SNP	ENST00000444610.2	37	CCDS58292.1																																																																																			C|1.000;T|0.000	0.000	strong		0.607	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		T	52346027	C	T	52346027	2	4	30	1	0	0	0	0	0	0	0	1	4488	639	23	1		1	DHRS12	13	52346027	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	815430	52346027	62823851	66	22617										
CCDC33	80125	hgsc.bcm.edu	37	chr15	74623324	74623324	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tcctcccccatctcacagaaGaatgatcgagagaaggagct	9	12	1	4	rs370369621		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr15:74623324G>A	ENST00000398814.3	+	14	1979	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CCDC33_ENST00000268082.4_Silent_p.K109K|CCDC33_ENST00000321288.5_Silent_p.K719K|CCDC33_ENST00000558821.1_Silent_p.K109K	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	719										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCACAGAAGAATGATCGAG	0.607																																					p.K516K		Atlas-SNP	.											.	CCDC33	160	.	0			c.G1548A						PASS	.						17	20	19					15																	74623324		1994	4164	6158	SO:0001819	synonymous_variant	80125	exon14			ACAGAAGAATGAT	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1548G>A	15.37:g.74623324G>A		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_025055	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	CCDS42058.1																																																																																			.	.	alt		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		A	74623324	G	A	74623324	2	1	30	1	0	0	0	0	0	0	0	1	2806	933	33	2		2	CCDC33	15	74623324	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10		74623324	27908068	67	22618										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320149	90320149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gggcaagggcaggggcagggGcaggggcaagggcaggggca	25	7	0	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr15:90320149G>A	ENST00000341735.3	+	1	561	c.561G>A	c.(559-561)ggG>ggA	p.G187G	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	187	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaggggcaggggcaag	0.781																																					p.G187G		Atlas-SNP	.											.	MESP2	20	.	0			c.G561A						PASS	.						2	3	3					15																	90320149		1334	3199	4533	SO:0001819	synonymous_variant	145873	exon1			GCAGGGGCAGGGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.561G>A	15.37:g.90320149G>A		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	20	9	0.45	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			.	.	none		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320149	G	A	90320149	2	1	30	1	0	0	0	0	0	0	0	1	9483	1190	42	2		2	MESP2	15	90320149	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	15696825	90320149	12211243	68	22619										
PKMYT1	9088	hgsc.bcm.edu	37	chr16	3026927	3026927	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccctgggcctcttgagggagAatccaggttctgcgtggcgg	16	11	2	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr16:3026927A>T	ENST00000262300.8	-	3	624	c.116T>A	c.(115-117)tTc>tAc	p.F39Y	PKMYT1_ENST00000440027.2_Missense_Mutation_p.F39Y|PKMYT1_ENST00000573944.1_Missense_Mutation_p.F30Y|PKMYT1_ENST00000574385.1_Missense_Mutation_p.F30Y|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000431515.2_Missense_Mutation_p.F39Y	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	39	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTTGAGGGAGAATCCAGGTTC	0.692																																					p.F39Y		Atlas-SNP	.											.	PKMYT1	23	.	0			c.T116A						PASS	.						11	15	14					16																	3026927		2106	4183	6289	SO:0001583	missense	9088	exon3			AGGGAGAATCCAG	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.116T>A	16.37:g.3026927A>T	ENSP00000262300:p.Phe39Tyr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	69	22	0.318841	NM_182687	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472280	0.84533	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.61274	0.12;0.2;0.25;0.29	5.68	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.63843	1.955	0.38873	D	0.956743	D;D;D	0.76494	0.999;0.996;0.998	D;P;D	0.63488	0.913;0.824;0.915	T	0.72906	-0.4150	10	0.72032	D	0.01	-19.7116	10.9777	0.47475	0.843:0.157:0.0:0.0	.	30;39;39	A6NHV6;Q99640;F8W164	.;PMYT1_HUMAN;.	Y	39;39;39;39;30	ENSP00000392855:F39Y;ENSP00000262300:F39Y;ENSP00000397739:F39Y;ENSP00000371675:F30Y	ENSP00000262300:F39Y	F	-	2	0	PKMYT1	2966928	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.755000	0.68750	0.938000	0.37419	0.533000	0.62120	TTC	.	.	none		0.692	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		T	3026927	A	T	3026927	3	4	30	1	0	0	0	0	1	0	0	0	11978	246	9	5	1449	5	PKMYT1	16	3026927	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10		3026927	87327826	69	22620										
SRCAP	10847	hgsc.bcm.edu	37	chr16	30747922	30747922	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cctcactggaggaggtgagcCgagaggagctcaaacaggca	15	10	2	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr16:30747922C>T	ENST00000262518.4	+	33	7370	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R2171*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R2267*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2329	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGGTGAGCCGAGAGGAGCT	0.507																																					p.R2329X		Atlas-SNP	.											.	SRCAP	298	.	0			c.C6985T						PASS	.						40	42	41					16																	30747922		2197	4300	6497	SO:0001587	stop_gained	10847	exon33			GTGAGCCGAGAGG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6985C>T	16.37:g.30747922C>T	ENSP00000262518:p.Arg2329*	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	110	38	0.345455	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	46	12.453280	0.99669	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.99	4.02	0.46733	.	0.000000	0.38897	N	0.001525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2684	13.5265	0.61597	0.1574:0.8425:0.0:0.0	.	.	.	.	X	2329;2267;2171	.	ENSP00000262518:R2329X	R	+	1	2	SRCAP	30655423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.623000	0.46435	1.292000	0.44672	0.563000	0.77884	CGA	.	.	none		0.507	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30747922	C	T	30747922	4	4	30	1	0	0	0	0	0	1	0	0	15134	644	23	1	7107	1	SRCAP	16	30747922	Nonsense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	27720995	30747922	59606831	70	22621										
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89351721	89351722	+	Frame_Shift_Ins	INS	-	-	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cgcgtcctcctcgtccgacgINStgtctgacaggatacgatgg							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr16:89351721_89351722insT	ENST00000301030.4	-	9	1688_1689	c.1228_1229insA	c.(1228-1230)acgfs	p.T410fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.T410fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	410					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCGTCCGACGTGTCTGACAGG	0.47																																					p.T410fs		Pindel,Atlas-Indel	.											.	ANKRD11	195	.	0			c.1229_1230insA						PASS	.																																			SO:0001589	frameshift_variant	29123	exon9			.	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1229dupA	16.37:g.89351722_89351722dupT	ENSP00000301030:p.Thr410fs	Somatic	180	.	.		WXS	Illumina HiSeq	Phase_I	181	30	0.166	NM_001256183	Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	CCDS32513.1																																																																																			.	.	none		0.47	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89351722	-	T	89351721	7	5	30	1	0	1	1	0	0	0	0	0	639	1145	40	0	6782	0	ANKRD11	16	89351721	Frame_Shift_Ins	INS	-	TCGA-GS-A9TU-01A-11D-A382-10	58603799	89351721	1003032	71	22622										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11666907	11666907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tttgctgccatctgggctttCggcggagcaatggtccaaga	13	10	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:11666907C>T	ENST00000262442.4	+	36	7214	c.7146C>T	c.(7144-7146)ttC>ttT	p.F2382F	DNAH9_ENST00000454412.2_Silent_p.F2382F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2382					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGGCTTTCGGCGGAGCAA	0.468																																					p.F2382F		Atlas-SNP	.											.	DNAH9	695	.	0			c.C7146T						PASS	.						71	65	67					17																	11666907		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon36			GGCTTTCGGCGGA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7146C>T	17.37:g.11666907C>T		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	105	32	0.304762	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			.	.	none		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11666907	C	T	11666907	2	4	30	1	0	0	0	0	0	0	0	1	4608	883	31	1		1	DNAH9	17	11666907	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		11666907	69528303	72	22623										
FBXW10	10517	hgsc.bcm.edu	37	chr17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	taggctgttttctggaaaagGagacataaccaagccagggt	12	7	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																					p.G245A		Atlas-SNP	.											FBXW10,NS,carcinoma,0,6	FBXW10	82	6	6	Substitution - Missense(6)	endometrium(6)	c.G734C						scavenged	.						231	173	193					17																	18653098		2203	4300	6503	SO:0001583	missense	10517	exon3			GAAAAGGAGACAT	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala	Somatic	334	1	0.00299401		WXS	Illumina HiSeq	Phase_I	272	3	0.0110294	NM_001267585	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA	G|0.750;C|0.250	0.250	weak		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		C	18653098	G	C	18653098	3	2	30	1	0	0	0	0	1	0	0	0	5763	1174	41	4	744	4	FBXW10	17	18653098	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	6986191	18653098	62542112	73	22624										
SUPT6H	6830	hgsc.bcm.edu	37	chr17	27016480	27016480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gaatacgatgaatcagccgaGgatgccaatcctgcaggagc	12	10	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:27016480G>T	ENST00000314616.6	+	25	3526	c.3243G>T	c.(3241-3243)gaG>gaT	p.E1081D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1081D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1081	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATCAGCCGAGGATGCCAATC	0.517																																					p.E1081D		Atlas-SNP	.											.	SUPT6H	165	.	0			c.G3243T						PASS	.						97	87	90					17																	27016480		2203	4300	6503	SO:0001583	missense	6830	exon25			AGCCGAGGATGCC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3243G>T	17.37:g.27016480G>T	ENSP00000319104:p.Glu1081Asp	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	88	4	0.0454545	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160282	0.38119	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.61	1.4	0.22301	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	L	0.43554	1.36	0.80722	D	1	P	0.37688	0.605	B	0.30401	0.115	T	0.09357	-1.0678	9	0.30854	T	0.27	-23.0781	9.5962	0.39576	0.3447:0.0:0.6553:0.0	.	1081	Q7KZ85	SPT6H_HUMAN	D	1081	.	ENSP00000319104:E1081D	E	+	3	2	SUPT6H	24040607	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.535000	0.23114	0.314000	0.23086	0.655000	0.94253	GAG	.	.	none		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27016480	G	T	27016480	3	4	30	1	0	0	0	0	1	0	0	0	15397	991	35	4	3337	4	SUPT6H	17	27016480	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	8363382	27016480	54178730	74	22625										
CWC25	54883	hgsc.bcm.edu	37	chr17	36959083	36959083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gttttccatcatctcttgccGttttcgctctaattcctctg	5	13	4	0	rs199944848		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:36959083G>A	ENST00000225428.5	-	9	1330	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.R282W	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	345										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATCTCTTGCCGTTTTCGCTCT	0.483																																					p.R345W		Atlas-SNP	.											.	CWC25	24	.	0			c.C1033T						PASS	.	G	TRP/ARG	0,3952		0,0,1976	195	192	193		1033	2.7	1	17		193	1,8315		0,1,4157	yes	missense	CWC25	NM_017748.3	101	0,1,6133	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	345/426	36959083	1,12267	1976	4158	6134	SO:0001583	missense	54883	exon9			CTTGCCGTTTTCG	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1033C>T	17.37:g.36959083G>A	ENSP00000225428:p.Arg345Trp	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	177	41	0.231638	NM_017748	A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058239	0.76074	0.0	1.2E-4	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.88	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.78456	2.415	0.80722	D	1	P;D	0.89917	0.954;1.0	B;D	0.87578	0.429;0.998	T	0.70208	-0.4935	9	0.62326	D	0.03	.	7.9671	0.30104	0.0717:0.0:0.5191:0.4092	rs35783447	282;345	B4DJK2;Q9NXE8	.;CWC25_HUMAN	W	345;282	.	ENSP00000225428:R345W	R	-	1	2	CWC25	34212609	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.881000	0.39638	0.365000	0.24400	0.655000	0.94253	CGG	.	.	weak		0.483	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		A	36959083	G	A	36959083	3	1	30	1	0	0	0	0	1	0	0	0	4069	1144	40	1	252	1	CWC25	17	36959083	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	9942603	36959083	44236127	75	22626										
THRA	7067	hgsc.bcm.edu	37	chr17	38244519	38244519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cttgcgaagaccagatcatcCtcctgaaggggtgctgcatg	12	11	1	3			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:38244519C>T	ENST00000264637.4	+	8	1328	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	THRA_ENST00000584985.1_Missense_Mutation_p.L250F|THRA_ENST00000450525.2_Missense_Mutation_p.L250F|THRA_ENST00000546243.1_Missense_Mutation_p.L250F|THRA_ENST00000394121.4_Missense_Mutation_p.L250F	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	250	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCAGATCATCCTCCTGAAGGG	0.627																																					p.L250F		Atlas-SNP	.											.	THRA	88	.	0			c.C748T						PASS	.						77	64	68					17																	38244519		2203	4300	6503	SO:0001583	missense	7067	exon8			ATCATCCTCCTGA	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.748C>T	17.37:g.38244519C>T	ENSP00000264637:p.Leu250Phe	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_001190918	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.208826	0.79240	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.97	3.78	0.43462	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.94886	3.595	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.995	D	0.98698	1.0699	10	0.87932	D	0	.	13.2085	0.59811	0.0:0.9048:0.0:0.0952	.	250;250;250	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	F	250	ENSP00000377679:L250F;ENSP00000264637:L250F;ENSP00000395641:L250F;ENSP00000443972:L250F	ENSP00000264637:L250F	L	+	1	0	THRA	35498045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.833000	0.62766	2.304000	0.77564	0.486000	0.48141	CTC	.	.	none		0.627	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			T	38244519	C	T	38244519	3	4	30	1	0	0	0	0	1	0	0	0	15870	681	24	2	774	2	THRA	17	38244519	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	1285436	38244519	42950691	76	22627										
COASY	80347	hgsc.bcm.edu	37	chr17	40716134	40716134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	acccctccctggagttcctgGtggtcagcgaggagacctat	12	13	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:40716134G>A	ENST00000393818.2	+	2	1312	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	COASY_ENST00000449624.1_5'UTR|COASY_ENST00000421097.2_Missense_Mutation_p.V286M|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Missense_Mutation_p.V286M|MLX_ENST00000435881.2_5'Flank|MLX_ENST00000346833.4_5'Flank|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000590958.1_Missense_Mutation_p.V315M	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	286	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGAGTTCCTGGTGGTCAGCGA	0.602																																					p.V315M		Atlas-SNP	.											.	COASY	45	.	0			c.G943A						PASS	.						48	49	49					17																	40716134		2203	4300	6503	SO:0001583	missense	80347	exon4			TTCCTGGTGGTCA	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.856G>A	17.37:g.40716134G>A	ENSP00000377406:p.Val286Met	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	123	28	0.227642	NM_001042532	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070898	0.93950	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818	D;D	0.97575	-4.44;-4.44	5.23	5.23	0.72850	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.99289	1.0898	10	0.87932	D	0	-20.9887	16.6827	0.85297	0.0:0.0:1.0:0.0	.	315;286	Q13057-2;Q13057	.;COASY_HUMAN	M	315;286;286	ENSP00000413338:V286M;ENSP00000377406:V286M	ENSP00000377406:V286M	V	+	1	0	COASY	37969660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.436000	0.97532	2.882000	0.98803	0.655000	0.94253	GTG	.	.	none		0.602	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		A	40716134	G	A	40716134	3	1	30	1	0	0	0	0	1	0	0	0	3652	1261	44	2	953	2	COASY	17	40716134	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	2471615	40716134	40479076	77	22628										
ICT1	3396	hgsc.bcm.edu	37	chr17	73008803	73008803	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tggcggccaccaggtgcctgCgctggggcctgagccgagcc	17	15	0	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:73008803C>G	ENST00000301585.5	+	1	35	c.22C>G	c.(22-24)Cgc>Ggc	p.R8G		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	8			R -> P (in dbSNP:rs3744206).		mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CAGGTGCCTGCGCTGGGGCCT	0.697											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R8G		Atlas-SNP	.											ICT1,NS,carcinoma,-1,1	ICT1	17	1	0			c.C22G						PASS	.						10	9	9					17																	73008803		2150	4208	6358	SO:0001583	missense	3396	exon1			TGCCTGCGCTGGG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.22C>G	17.37:g.73008803C>G	ENSP00000301585:p.Arg8Gly	Somatic	40	0	0	1142	WXS	Illumina HiSeq	Phase_I	35	7	0.2	NM_001545	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274396	0.23307	.	.	ENSG00000167862	ENST00000301585	T	0.26810	1.71	5.58	4.33	0.51752	.	0.565130	0.17342	N	0.177719	T	0.17789	0.0427	N	0.24115	0.695	0.09310	N	0.999997	B	0.28055	0.199	B	0.24974	0.057	T	0.16158	-1.0412	10	0.62326	D	0.03	-4.1944	10.3113	0.43710	0.0:0.8818:0.0:0.1182	.	8	Q14197	ICT1_HUMAN	G	8	ENSP00000301585:R8G	ENSP00000301585:R8G	R	+	1	0	ICT1	70520398	0.002000	0.14202	0.649000	0.29536	0.023000	0.10783	0.523000	0.22925	0.962000	0.38057	0.655000	0.94253	CGC	.	.	none		0.697	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		G	73008803	C	G	73008803	3	3	30	1	0	0	0	0	1	0	0	0	7488	768	27	4	24	4	ICT1	17	73008803	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	32292669	73008803	8186407	78	22629										
ENPP7	339221	hgsc.bcm.edu	37	chr17	77704925	77704925	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	agaggcctggccgtcctcctCactgtggctctggccacgct	12	16	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr17:77704925C>T	ENST00000328313.5	+	1	245	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGTCCTCCTCACTGTGGCTC	0.657																																					p.L8L		Atlas-SNP	.											.	ENPP7	63	.	0			c.C24T						PASS	.						15	16	16					17																	77704925		2173	4242	6415	SO:0001819	synonymous_variant	339221	exon1			CCTCCTCACTGTG	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.24C>T	17.37:g.77704925C>T		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_178543		Silent	SNP	ENST00000328313.5	37	CCDS11763.1																																																																																			.	.	none		0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		T	77704925	C	T	77704925	2	4	30	1	0	0	0	0	0	0	0	1	5135	813	29	2		2	ENPP7	17	77704925	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	4696122	77704925	3490285	79	22630										
DSC2	1824	hgsc.bcm.edu	37	chr18	28662381	28662381	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	actgtattttcttccactgaTgtcacatactaaaataataa	3	8	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr18:28662381T>G	ENST00000280904.6	-	9	1529	c.1086A>C	c.(1084-1086)acA>acC	p.T362T	DSC2_ENST00000251081.6_Silent_p.T362T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTCCACTGATGTCACATACT	0.318																																					p.T362T		Atlas-SNP	.											DSC2_ENST00000251081,NS,carcinoma,0,2	DSC2	168	2	0			c.A1086C						PASS	.						69	66	67					18																	28662381		2200	4299	6499	SO:0001819	synonymous_variant	1824	exon9			CACTGATGTCACA	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1086A>C	18.37:g.28662381T>G		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	221	27	0.122172	NM_024422		Silent	SNP	ENST00000280904.6	37	CCDS11892.1																																																																																			.	.	none		0.318	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		G	28662381	T	G	28662381	2	3	30	1	0	0	0	0	0	0	0	1	4766	1451	51	5		5	DSC2	18	28662381	Silent	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10		28662381	49414867	80	22631										
DSG1	1828	hgsc.bcm.edu	37	chr18	28911696	28911696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgatactcaatgctactgacGcagatgaaccgaacaatttg	8	9	1	4			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr18:28911696G>A	ENST00000257192.4	+	6	762	c.550G>A	c.(550-552)Gca>Aca	p.A184T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTACTGACGCAGATGAACC	0.333																																					p.A184T		Atlas-SNP	.											DSG1,colon,carcinoma,0,1	DSG1	176	1	0			c.G550A						PASS	.						74	68	70					18																	28911696		2203	4299	6502	SO:0001583	missense	1828	exon6			ACTGACGCAGATG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.550G>A	18.37:g.28911696G>A	ENSP00000257192:p.Ala184Thr	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	299	31	0.103679	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283521	0.95489	.	.	ENSG00000134760	ENST00000257192	T	0.61859	0.07	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000016	T	0.82029	0.4948	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84483	0.0606	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	184	Q02413	DSG1_HUMAN	T	184	ENSP00000257192:A184T	ENSP00000257192:A184T	A	+	1	0	DSG1	27165694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.063000	0.89482	2.780000	0.95670	0.655000	0.94253	GCA	.	.	none		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28911696	G	A	28911696	3	1	30	1	0	0	0	0	1	0	0	0	4776	1087	38	1	572	1	DSG1	18	28911696	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	249315	28911696	49165552	81	22632										
SERPINB3	6317	hgsc.bcm.edu	37	chr18	61323022	61323022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tgatccgaatcctactacagCggtggcagctgcagcttctg	11	12	1	1	rs111442409		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr18:61323022C>T	ENST00000283752.5	-	8	1185	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.A296T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	348					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTACTACAGCGGTGGCAGCT	0.498													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19839	0.0		0.0	False		,,,				2504	0.0				p.A348T		Atlas-SNP	.											.	SERPINB3	90	.	0			c.G1042A						PASS	.						110	116	114					18																	61323022		2203	4300	6503	SO:0001583	missense	6317	exon8			CTACAGCGGTGGC	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1042G>A	18.37:g.61323022C>T	ENSP00000283752:p.Ala348Thr	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	404	48	0.118812	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.32	1.901744	0.33535	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.83506	-1.73;-1.73	3.06	1.15	0.20763	Serpin domain (3);	0.530994	0.15710	N	0.248470	T	0.71813	0.3384	L	0.41710	1.295	0.09310	N	1	B;B	0.34264	0.446;0.002	B;B	0.29440	0.102;0.001	T	0.61407	-0.7069	10	0.52906	T	0.07	.	8.2078	0.31465	0.0:0.7806:0.0:0.2194	.	296;348	P29508-2;P29508	.;SPB3_HUMAN	T	348;296	ENSP00000283752:A348T;ENSP00000329498:A296T	ENSP00000283752:A348T	A	-	1	0	SERPINB3	59474002	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.304000	0.08199	0.300000	0.22699	-0.384000	0.06662	GCT	C|0.999;T|0.001	0.001	strong		0.498	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		T	61323022	C	T	61323022	3	4	30	1	0	0	0	0	1	0	0	0	14102	768	27	1	134	1	SERPINB3	18	61323022	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	32411326	61323022	16754226	82	22633										
MADCAM1	8174	hgsc.bcm.edu	37	chr19	501801	501801	+	Missense_Mutation	SNP	A	A	C													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ctccccggagcctcccgacaAgacctccccggagcccgccc					rs76476234		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:501801A>C	ENST00000215637.3	+	4	846	c.800A>C	c.(799-801)aAg>aCg	p.K267T	MADCAM1_ENST00000587541.1_Missense_Mutation_p.K48T|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	267	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CCTCCCGACAAGACCTCCCCG	0.726																																					p.K267T		Atlas-SNP	.											MADCAM1,rectum,carcinoma,0,1	MADCAM1	29	1	0			c.A800C						scavenged	.						12	14	13					19																	501801		2117	4144	6261	SO:0001583	missense	8174	exon4			CCGACAAGACCTC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.800A>C	19.37:g.501801A>C	ENSP00000215637:p.Lys267Thr	Somatic	49	5	0.102041		WXS	Illumina HiSeq	Phase_I	49	7	0.142857	NM_130760	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	N	1.280	-0.610573	0.03690	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.09538	2.97	2.48	-2.54	0.06307	.	2.146880	0.03414	N	0.205240	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	10	0.13108	T	0.6	.	1.2163	0.01915	0.159:0.2278:0.1571:0.4562	.	267	Q13477	MADCA_HUMAN	T	291;283;275;267	ENSP00000215637:K267T	ENSP00000215637:K267T	K	+	2	0	MADCAM1	452801	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.457000	0.06745	-0.940000	0.03705	-1.725000	0.00704	AAG	A|0.500;C|0.500	0.500	weak		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		C	501801	A	C	501801	3	2	30	1	0	0	0	0	1	0	0	0	9151	72	3	5	814	5	MADCAM1	19	501801	Missense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10		501801	58627182	83	22634	461	2								
MADCAM1	8174	hgsc.bcm.edu	37	chr19	501802	501802	+	Missense_Mutation	SNP	G	G	C													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tccccggagcctcccgacaaGacctccccggagcccgcccc					rs75905809		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:501802G>C	ENST00000215637.3	+	4	847	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MADCAM1_ENST00000587541.1_Missense_Mutation_p.K48N|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	267	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CTCCCGACAAGACCTCCCCGG	0.721																																					p.K267N		Atlas-SNP	.											MADCAM1,rectum,carcinoma,+1,1	MADCAM1	29	1	0			c.G801C						scavenged	.						12	14	13					19																	501802		2117	4139	6256	SO:0001583	missense	8174	exon4			CGACAAGACCTCC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.801G>C	19.37:g.501802G>C	ENSP00000215637:p.Lys267Asn	Somatic	50	5	0.1		WXS	Illumina HiSeq	Phase_I	51	7	0.137255	NM_130760	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	g	1.225	-0.625782	0.03610	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10573	2.86	3.12	-6.25	0.02039	.	2.146880	0.03414	N	0.205240	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	10	0.16896	T	0.51	.	3.4407	0.07462	0.2616:0.3054:0.3464:0.0866	.	267	Q13477	MADCA_HUMAN	N	291;283;275;267	ENSP00000215637:K267N	ENSP00000215637:K267N	K	+	3	2	MADCAM1	452802	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.864000	0.00347	-2.471000	0.00529	-1.635000	0.00777	AAG	G|0.500;C|0.500	0.500	weak		0.721	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		C	501802	G	C	501802	3	2	30	1	0	0	0	0	1	0	0	0	9151	933	33	4	815	4	MADCAM1	19	501802	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	1	501802	58627181	84	22635	461	2								
STK11	6794	hgsc.bcm.edu	37	chr19	1219343	1219343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gtatatggtgatggagtactGcgtgtgtggcatgcaggaaa	16	4	0	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:1219343G>T	ENST00000326873.7	+	3	1568	c.395G>T	c.(394-396)tGc>tTc	p.C132F	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGAGTACTGCGTGTGTGGC	0.672		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.C132F		Atlas-SNP	.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	STK11,colon,carcinoma,-1,2	STK11	410	2	22	Whole gene deletion(20)|Unknown(2)	cervix(15)|lung(3)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	c.G395T						scavenged	.						47	50	49					19																	1219343		2186	4289	6475	SO:0001583	missense	6794	exon3	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	AGTACTGCGTGTG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.395G>T	19.37:g.1219343G>T	ENSP00000324856:p.Cys132Phe	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	207	5	0.0241546	NM_000455	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529816	0.85706	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.83673	-1.75	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92373	0.5907	10	0.87932	D	0	-44.8643	16.9932	0.86359	0.0:0.0:1.0:0.0	.	132	Q15831	STK11_HUMAN	F	132	ENSP00000324856:C132F	ENSP00000324856:C132F	C	+	2	0	STK11	1170343	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	9.533000	0.98059	2.270000	0.75569	0.491000	0.48974	TGC	.	.	none		0.672	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1219343	G	T	1219343	3	4	30	1	0	0	0	0	1	0	0	0	15286	1319	46	4	405	4	STK11	19	1219343	Missense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	717541	1219343	57909640	85	22636										
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																					p.Y290Y		Atlas-SNP	.											OR7A5,NS,carcinoma,0,1	OR7A5	43	1	2	Substitution - coding silent(2)	kidney(2)	c.T870C						scavenged	.						74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659	exon1			CAGACTATAGATA	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	109	3	0.0275229	NM_017506	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			A|0.999;G|0.001	0.001	weak		0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938184	A	G	14938184	2	3	30	1	0	0	0	0	0	0	0	1	11216	456	16	2		2	OR7A5	19	14938184	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	13718841	14938184	44190799	86	22637										
CYP4F12	66002	hgsc.bcm.edu	37	chr19	15794330	15794330	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	agtgaatatattgccaccatCttggagctcagtgcccttgt	9	10	2	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:15794330C>A	ENST00000550308.1	+	7	1055	c.675C>A	c.(673-675)atC>atA	p.I225I	CYP4F12_ENST00000324632.10_Silent_p.I225I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	225					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTGCCACCATCTTGGAGCTCA	0.542																																					p.I225I		Atlas-SNP	.											.	CYP4F12	89	.	0			c.C675A						PASS	.						71	71	71					19																	15794330		2201	4300	6501	SO:0001819	synonymous_variant	66002	exon7			CACCATCTTGGAG	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.675C>A	19.37:g.15794330C>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	96	20	0.208333	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			.	.	none		0.542	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			A	15794330	C	A	15794330	2	1	30	1	0	0	0	0	0	0	0	1	4187	903	32	4		4	CYP4F12	19	15794330	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	856146	15794330	43334653	87	22638										
UNC13A	23025	hgsc.bcm.edu	37	chr19	17751347	17751347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ttggaggcggcgaagcggtcGgaggcagacacgttggtgga	20	7	0	1	rs371816774		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:17751347G>A	ENST00000519716.2	-	22	2759	c.2760C>T	c.(2758-2760)tcC>tcT	p.S920S	UNC13A_ENST00000550896.1_Silent_p.S918S|UNC13A_ENST00000552293.1_Silent_p.S920S|UNC13A_ENST00000252773.7_Silent_p.S920S|UNC13A_ENST00000551649.1_Silent_p.S920S|UNC13A_ENST00000428389.2_Silent_p.S1008S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	920					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGAAGCGGTCGGAGGCAGACA	0.582																																					p.S920S		Atlas-SNP	.											.	UNC13A	299	.	0			c.C2760T						PASS	.	G		1,4327		0,1,2163	51	62	58		2760	-2.7	1	19		58	0,8492		0,0,4246	no	coding-synonymous	UNC13A	NM_001080421.2		0,1,6409	AA,AG,GG		0.0,0.0231,0.0078		920/1704	17751347	1,12819	2164	4246	6410	SO:0001819	synonymous_variant	23025	exon21			GCGGTCGGAGGCA	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2760C>T	19.37:g.17751347G>A		Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	89	19	0.213483	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																			.	.	weak		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17751347	G	A	17751347	2	1	30	1	0	0	0	0	0	0	0	1	16981	1103	39	1		1	UNC13A	19	17751347	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	1957017	17751347	41377636	88	22639										
ISYNA1	51477	hgsc.bcm.edu	37	chr19	18546466	18546466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cgcttgctgtcacccacgtaCggcacatacttgatgaccac	8	15	1	2			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:18546466C>T	ENST00000338128.8	-	9	1378	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	ISYNA1_ENST00000317018.6_Silent_p.P185P|ISYNA1_ENST00000457269.4_Silent_p.P333P|ISYNA1_ENST00000578963.1_Silent_p.P259P|ISYNA1_ENST00000545187.1_Silent_p.P237P	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	387					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CACCCACGTACGGCACATACT	0.672																																					p.P387P		Atlas-SNP	.											.	ISYNA1	31	.	0			c.G1161A						PASS	.						60	46	51					19																	18546466		2201	4300	6501	SO:0001819	synonymous_variant	51477	exon9			CACGTACGGCACA		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1161G>A	19.37:g.18546466C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	60	17	0.283333	NM_016368	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			.	.	none		0.672	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		T	18546466	C	T	18546466	2	4	30	1	0	0	0	0	0	0	0	1	7867	523	19	1		1	ISYNA1	19	18546466	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	795119	18546466	40582517	89	22640										
RHPN2	85415	hgsc.bcm.edu	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	9	16	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M		Atlas-SNP	.											RHPN2,face,carcinoma,0,2	RHPN2	107	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A						scavenged	.						84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met	Somatic	23	1	0.0434783		WXS	Illumina HiSeq	Phase_I	24	3	0.125	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG	.	.	none		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		T	33517507	C	T	33517507	3	4	30	1	0	0	0	0	1	0	0	0	13351	565	20	2	1895	2	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	14971041	33517507	25611476	90	22641										
CYP2A6	1548	hgsc.bcm.edu	37	chr19	41355765	41355765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gaaggtggcttgctcgcctcGcccgctgaactcctcagcct	11	16	1	1	rs199545200		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:41355765G>A	ENST00000301141.5	-	2	321	c.301C>T	c.(301-303)Cga>Tga	p.R101*	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	101					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGCTCGCCTCGCCCGCTGAAC	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		18422	0.001		0.0	False		,,,				2504	0.0				p.R101X		Atlas-SNP	.											CYP2A6,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	CYP2A6	69	1	0			c.C301T	GRCh37	CM057912	CYP2A6	M		scavenged	.						68	65	66					19																	41355765		2203	4297	6500	SO:0001587	stop_gained	1548	exon2			CGCCTCGCCCGCT	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.301C>T	19.37:g.41355765G>A	ENSP00000301141:p.Arg101*	Somatic	209	4	0.0191388		WXS	Illumina HiSeq	Phase_I	247	13	0.0526316	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Nonsense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	20.8	4.055138	0.75960	.	.	ENSG00000255974	ENST00000301141	.	.	.	2.72	1.61	0.23674	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0179	0.30391	0.0:0.0:0.396:0.604	.	.	.	.	X	101	.	ENSP00000301141:R101X	R	-	1	2	CYP2A6	46047605	0.004000	0.15560	0.122000	0.21767	0.368000	0.29767	-0.012000	0.12699	0.289000	0.22422	0.185000	0.17295	CGA	G|1.000;A|0.000	0.000	strong		0.632	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		A	41355765	G	A	41355765	4	1	30	1	0	0	0	0	0	1	0	0	4162	1095	38	1	1215	1	CYP2A6	19	41355765	Nonsense_Mutation	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	7838258	41355765	17773218	91	22642										
SLC6A16	28968	hgsc.bcm.edu	37	chr19	49812603	49812603	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccaaattttgccccttccagGagtagagtccggatgaagaa	10	10	0	3			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:49812603G>A	ENST00000335875.4	-	6	1183	c.942C>T	c.(940-942)ctC>ctT	p.L314L	SLC6A16_ENST00000454748.3_Silent_p.L314L|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	314					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCCTTCCAGGAGTAGAGTCC	0.507																																					p.L314L		Atlas-SNP	.											.	SLC6A16	62	.	0			c.C942T						PASS	.						71	72	71					19																	49812603		1926	4128	6054	SO:0001819	synonymous_variant	28968	exon6			TTCCAGGAGTAGA	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.942C>T	19.37:g.49812603G>A		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	140	10	0.0714286	NM_014037	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																			.	.	none		0.507	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		A	49812603	G	A	49812603	2	1	30	1	0	0	0	0	0	0	0	1	14679	1161	41	2		2	SLC6A16	19	49812603	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	8456838	49812603	9316380	92	22643										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51920119	51920119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gggggtggacattcctcaaaGgcccagttaaacacacagat	11	10	1	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:51920119G>A	ENST00000339313.5	-	3	623	c.507C>T	c.(505-507)gcC>gcT	p.A169A	SIGLEC10_ENST00000525998.1_Silent_p.A169A|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Silent_p.A169A|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.A169A			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	169	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATTCCTCAAAGGCCCAGTTAA	0.597																																					p.A169A		Atlas-SNP	.											SIGLEC10,NS,carcinoma,-1,1	SIGLEC10	112	1	0			c.C507T						scavenged	.						98	99	98					19																	51920119		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon3			CTCAAAGGCCCAG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.507C>T	19.37:g.51920119G>A		Somatic	143	1	0.00699301		WXS	Illumina HiSeq	Phase_I	176	8	0.0454545	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			.	.	none		0.597	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51920119	G	A	51920119	2	1	30	1	0	0	0	0	0	0	0	1	14306	987	35	2		2	SIGLEC10	19	51920119	Silent	SNP	G	TCGA-GS-A9TU-01A-11D-A382-10	2107516	51920119	7208864	93	22644										
ZNF880	400713	hgsc.bcm.edu	37	chr19	52887146	52887146	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	atgccggaaacaagtctcttAaaaatcaacttggattaacc	6	9	2	0	rs398101268|rs34470614		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:52887146A>T	ENST00000422689.2	+	4	328	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	105					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAAGTCTCTTAAAAATCAACT	0.368																																					p.K105X		Atlas-SNP	.											ZNF880,colon,carcinoma,-1,1	ZNF880	45	1	0			c.A313T						scavenged	.						61	45	50					19																	52887146		690	1569	2259	SO:0001587	stop_gained	400713	exon4			TCTCTTAAAAATC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.313A>T	19.37:g.52887146A>T	ENSP00000406318:p.Lys105*	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	221	9	0.040724	NM_001145434	B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	8.517	0.867766	0.17250	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.6	-2.54	0.06307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7816	0.03033	0.4842:0.0:0.2398:0.276	.	.	.	.	X	105	.	ENSP00000406318:K105X	K	+	1	0	ZNF880	57578958	0.000000	0.05858	0.006000	0.13384	0.124000	0.20399	-1.231000	0.02939	-0.761000	0.04670	0.368000	0.22195	AAA	.	.	none		0.368	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		T	52887146	A	T	52887146	4	4	30	1	0	0	0	0	0	1	0	0	18194	363	13	5	327	5	ZNF880	19	52887146	Nonsense_Mutation	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	967027	52887146	6241837	94	22645										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	272	38	0.139706	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	30	1	0	0	0	0	1	0	0	0	18173	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	5498647	58385793	743190	95	22646	462	3								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						scavenged	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	250	36	0.144	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	30	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	5	58385798	743185	96	22647	462	3								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						scavenged	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	186	1	0.00537634		WXS	Illumina HiSeq	Phase_I	247	36	0.145749	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	30	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	1	58385799	743184	97	22648	462	3								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385867	58385867	+	Missense_Mutation	SNP	T	T	A													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gatttcccacattctccacaTtcatgttttttttcagtgtg							TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:58385867T>A	ENST00000435989.2	-	3	1125	c.891A>T	c.(889-891)gaA>gaT	p.E297D	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTCTCCACATTCATGTTTTT	0.363																																					p.E297D		Atlas-SNP	.											ZNF814,NS,carcinoma,-2,1	ZNF814	93	1	0			c.A891T						scavenged	.						5	4	4					19																	58385867		510	1081	1591	SO:0001583	missense	730051	exon3			TCCACATTCATGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.891A>T	19.37:g.58385867T>A	ENSP00000410545:p.Glu297Asp	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	104	11	0.105769	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554325	0.27739	.	.	ENSG00000204514	ENST00000435989	T	0.22134	1.97	1.93	-3.87	0.04218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	L	0.47078	1.49	0.09310	N	1	P	0.36048	0.534	B	0.39738	0.308	T	0.22208	-1.0223	9	0.40728	T	0.16	.	3.3223	0.07054	0.3234:0.181:0.0:0.4956	.	297	B7Z6K7	ZN814_HUMAN	D	297	ENSP00000410545:E297D	ENSP00000410545:E297D	E	-	3	2	ZNF814	63077679	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-2.601000	0.00892	-0.795000	0.04462	0.102000	0.15555	GAA	.	.	none		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385867	T	A	58385867	3	1	30	1	0	0	0	0	1	0	0	0	18173	1490	52	5	1680	5	ZNF814	19	58385867	Missense_Mutation	SNP	T	TCGA-GS-A9TU-01A-11D-A382-10	68	58385867	743116	98	22649	463	2								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385869	58385869	+	Nonsense_Mutation	SNP	C	C	A													0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	tttcccacattctccacattCatgttttttttcagtgtgaa					rs199684163|rs10687775|rs55789144|rs66767659	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr19:58385869C>A	ENST00000435989.2	-	3	1123	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTT	0.363																																					p.E297X		Atlas-SNP	.											ZNF814,NS,carcinoma,0,1	ZNF814	93	1	0			c.G889T						scavenged	.						5	4	5					19																	58385869		591	1308	1899	SO:0001587	stop_gained	730051	exon3			CACATTCATGTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.889G>T	19.37:g.58385869C>A	ENSP00000410545:p.Glu297*	Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	111	24	0.216216	NM_001144989	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839119	0.91117	.	.	ENSG00000204514	ENST00000435989	.	.	.	1.93	-3.87	0.04218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6944	0.00896	0.1754:0.2303:0.1739:0.4204	.	.	.	.	X	297	.	ENSP00000410545:E297X	E	-	1	0	ZNF814	63077681	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-0.792000	0.04594	-0.856000	0.04120	0.121000	0.15741	GAA	.	.	weak		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385869	C	A	58385869	4	1	30	1	0	0	0	0	0	1	0	0	18173	835	29	4	1682	4	ZNF814	19	58385869	Nonsense_Mutation	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10	2	58385869	743114	99	22650	463	2								
SNX21	90203	hgsc.bcm.edu	37	chr20	44469595	44469595	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	agcctcacctgtactggcctCtatcgtgaggctctggcact	10	14	3	1			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr20:44469595C>T	ENST00000491381.1	+	4	833	c.765C>T	c.(763-765)ctC>ctT	p.L255L	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372542.1_Silent_p.L246L|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	255					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GTACTGGCCTCTATCGTGAGG	0.692																																					p.L255L		Atlas-SNP	.											.	SNX21	23	.	0			c.C765T						PASS	.						15	18	17					20																	44469595		2192	4258	6450	SO:0001819	synonymous_variant	90203	exon4			TGGCCTCTATCGT	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.765C>T	20.37:g.44469595C>T		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	64	17	0.265625	NM_033421	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	CCDS13377.1																																																																																			.	.	none		0.692	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		T	44469595	C	T	44469595	2	4	30	1	0	0	0	0	0	0	0	1	14893	900	32	2		2	SNX21	20	44469595	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		44469595	18555925	100	22651										
POTEH	23784	hgsc.bcm.edu	37	chr22	16277852	16277852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	agaaggctgactatacttgcCgatccacaacatacagcaag	8	11	0	2	rs11489067	byFrequency	TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr22:16277852C>T	ENST00000343518.6	-	5	1113	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	354										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATACTTGCCGATCCACAAC	0.363																																					p.S354S		Atlas-SNP	.											POTEH,NS,carcinoma,0,1	POTEH	114	1	0			c.G1062A						scavenged	.						2	2	2					22																	16277852		390	826	1216	SO:0001819	synonymous_variant	23784	exon5			ACTTGCCGATCCA	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1062G>A	22.37:g.16277852C>T		Somatic	809	157	0.194067		WXS	Illumina HiSeq	Phase_I	722	134	0.185596	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	CCDS46658.1																																																																																			C|0.816;T|0.184	0.184	strong		0.363	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16277852	C	T	16277852	2	4	30	1	0	0	0	0	0	0	0	1	12267	639	23	1		1	POTEH	22	16277852	Silent	SNP	C	TCGA-GS-A9TU-01A-11D-A382-10		16277852	35026714	101	22652										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230413	23230413	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0421052631578947	4	1	0.67994227994228	0	0.764935064935065	0.06993006993007	0.204795204795205	0	gcctcagttggaagcagccgAtccagcctgcggagcctgtg	14	13	1	0			TCGA-GS-A9TU-01A-11D-A382-10	TCGA-GS-A9TU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a588279b-b306-445f-9584-61586da9887f	758b8554-5e4a-469e-92dd-c459fbcd4e0e	g.chr22:23230413A>G	ENST00000526893.1	+	1	454	c.180A>G	c.(178-180)cgA>cgG	p.R60R	IGLL5_ENST00000531372.1_Silent_p.R60R|IGLL5_ENST00000532223.2_Silent_p.R60R|hsa-mir-5571_ENST00000577998.1_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	60						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAAGCAGCCGATCCAGCCTGC	0.647																																					p.D25G		Atlas-SNP	.											.	IGLL5	26	.	0			c.A74G						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			CAGCCGATCCAGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.180A>G	22.37:g.23230413A>G		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	103	54	0.524272	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.647	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		G	23230413	A	G	23230413	2	3	30	1	0	0	0	0	0	0	0	1	7594	320	12	2		2	IGLL5	22	23230413	Silent	SNP	A	TCGA-GS-A9TU-01A-11D-A382-10	6952561	23230413	28074153	102	22653										
EPS15	2060	hgsc.bcm.edu	37	chr1	51860102	51860102	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccaggagcaaaaggatcattGtgcttcaacgtttctaccta	8	10	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:51860102G>T	ENST00000371733.3	-	21	2166	c.2070C>A	c.(2068-2070)caC>caA	p.H690Q	EPS15_ENST00000371730.2_Missense_Mutation_p.H556Q|EPS15_ENST00000396122.4_Missense_Mutation_p.H367Q	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	690	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AAGGATCATTGTGCTTCAACG	0.353			T	MLL	ALL																																p.H690Q		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	EPS15,caecum,carcinoma,-1,1	EPS15	72	1	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.C2070A						scavenged	.						75	69	71					1																	51860102		2203	4300	6503	SO:0001583	missense	2060	exon21			ATCATTGTGCTTC	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2070C>A	1.37:g.51860102G>T	ENSP00000360798:p.His690Gln	Somatic	481	2	0.004158		WXS	Illumina HiSeq	Phase_I	425	7	0.0164706	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	6.116	0.389642	0.11581	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.16743	2.32;2.32;2.32	4.77	2.8	0.32819	.	0.000000	0.34002	N	0.004348	T	0.07908	0.0198	N	0.22421	0.69	0.30520	N	0.768492	B;B;B	0.19583	0.037;0.037;0.013	B;B;B	0.17098	0.017;0.017;0.007	T	0.20672	-1.0268	10	0.13853	T	0.58	.	1.4628	0.02399	0.1962:0.1673:0.4638:0.1727	.	556;690;376	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	Q	556;690;367	ENSP00000360795:H556Q;ENSP00000360798:H690Q;ENSP00000379428:H367Q	ENSP00000360795:H556Q	H	-	3	2	EPS15	51632690	1.000000	0.71417	0.999000	0.59377	0.539000	0.34962	1.042000	0.30303	0.662000	0.31006	-0.467000	0.05162	CAC	.	.	none		0.353	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		T	51860102	G	T	51860102	3	4	31	1	0	0	0	0	1	0	0	0	5192	1368	48	4	640	4	EPS15	1	51860102	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10		51860102	197390519	1	22654										
RBMXL1	494115	hgsc.bcm.edu	37	chr1	89448539	89448539	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggctgcttgagtaactgtctCgacttccaccatatccatca	7	13	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:89448539C>G	ENST00000321792.5	-	2	1398	c.971G>C	c.(970-972)cGa>cCa	p.R324P	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R324P|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	324	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTAACTGTCTCGACTTCCACC	0.517																																					p.R324P		Atlas-SNP	.											CCBL2,NS,carcinoma,-1,1	.	.	1	0			c.G971C						scavenged	.						185	184	184					1																	89448539		2203	4300	6503	SO:0001583	missense	494115	exon3			CTGTCTCGACTTC	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.971G>C	1.37:g.89448539C>G	ENSP00000318415:p.Arg324Pro	Somatic	245	2	0.00816326		WXS	Illumina HiSeq	Phase_I	197	7	0.035533	NM_001162536		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844738	0.51164	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77358	-1.09;-1.09	1.89	0.895	0.19247	.	0.070349	0.64402	D	0.000016	T	0.62925	0.2468	M	0.65498	2.005	0.33162	D	0.547093	D	0.55172	0.97	P	0.46796	0.527	T	0.60667	-0.7218	10	0.52906	T	0.07	-3.2327	6.12	0.20148	0.0:0.8158:0.0:0.1842	.	324	Q96E39	RBMXL_HUMAN	P	324	ENSP00000318415:R324P;ENSP00000446099:R324P	ENSP00000318415:R324P	R	-	2	0	RBMXL1	89221127	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	4.995000	0.63908	0.128000	0.18479	0.306000	0.20318	CGA	.	.	none		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448539	C	G	89448539	3	3	31	1	0	0	0	0	1	0	0	0	13153	884	31	4	205	4	RBMXL1	1	89448539	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	37588437	89448539	159802082	2	22655										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120846059	120846059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gtcttccttcctgcaacaacGgacacttctggatgtttcac	7	13	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:120846059G>A	ENST00000369390.3	+	3	1124	c.295G>A	c.(295-297)Gga>Aga	p.G99R	FAM72B_ENST00000355228.4_Missense_Mutation_p.G59R|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	99										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCAACAACGGACACTTCTG	0.388																																					p.G99R		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.G295A						scavenged	.						345	316	325					1																	120846059		1870	4114	5984	SO:0001583	missense	653820	exon3			AACAACGGACACT	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.295G>A	1.37:g.120846059G>A	ENSP00000358397:p.Gly99Arg	Somatic	847	8	0.0094451		WXS	Illumina HiSeq	Phase_I	689	13	0.0188679	NM_001100910	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	g	18.03	3.532588	0.64972	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.38401	1.14;1.14;1.14	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.36166	0.0957	M	0.83603	2.65	0.54753	D	0.999989	D;B	0.63880	0.993;0.295	P;B	0.49361	0.608;0.056	T	0.42548	-0.9445	10	0.54805	T	0.06	.	10.8119	0.46551	0.0:0.0:1.0:0.0	.	99;59	Q86X60;Q86X60-2	FA72B_HUMAN;.	R	70;99;70;59	ENSP00000358397:G99R;ENSP00000392882:G70R;ENSP00000347368:G59R	ENSP00000347368:G59R	G	+	1	0	FAM72B	120647582	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.236000	0.78154	1.431000	0.47355	0.398000	0.26397	GGA	.	.	weak		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			A	120846059	G	A	120846059	3	1	31	1	0	0	0	0	1	0	0	0	5615	1117	39	1	305	1	FAM72B	1	120846059	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	31397520	120846059	128404562	3	22656										
FLG	2312	hgsc.bcm.edu	37	chr1	152280084	152280084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gtcccggtccgtccatgggcGgactcagactgttcatgagt	13	12	2	2	rs200015722		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:152280084G>A	ENST00000368799.1	-	3	7313	c.7278C>T	c.(7276-7278)tcC>tcT	p.S2426S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2426	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.602									Ichthyosis																												p.S2426S		Atlas-SNP	.											.	FLG	900	.	0			c.C7278T						PASS	.	A		3,4403	825.6+/-416.5	0,3,2200	245	231	236		7278	-9.1	0	1		236	3,8597	819.0+/-406.8	0,3,4297	no	coding-synonymous	FLG	NM_002016.1		0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461		2426/4062	152280084	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ATGGGCGGACTCA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7278C>T	1.37:g.152280084G>A		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	199	15	0.0753769	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			G|0.999;A|0.001	0.001	weak		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152280084	G	A	152280084	2	1	31	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152280084	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	31434025	152280084	96970537	4	22657										
FLG	2312	hgsc.bcm.edu	37	chr1	152284823	152284823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctgccttcctcttctgcttgAccccgggtgtccacgaatgg	10	15	2	1	rs74129459	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:152284823A>G	ENST00000368799.1	-	3	2574	c.2539T>C	c.(2539-2541)Tca>Cca	p.S847P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	847	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTTGACCCCGGGTGT	0.582									Ichthyosis																												p.S847P		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.T2539C						scavenged	.						322	322	322					1																	152284823		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTTGACCCCGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2539T>C	1.37:g.152284823A>G	ENSP00000357789:p.Ser847Pro	Somatic	213	2	0.00938967		WXS	Illumina HiSeq	Phase_I	166	4	0.0240964	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.279	0.608792	0.14066	.	.	ENSG00000143631	ENST00000368799	T	0.03772	3.81	3.63	2.44	0.29823	.	.	.	.	.	T	0.05731	0.0150	L	0.58428	1.81	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.31530	-0.9940	9	0.34782	T	0.22	.	6.6957	0.23197	0.7566:0.2434:0.0:0.0	.	847	P20930	FILA_HUMAN	P	847	ENSP00000357789:S847P	ENSP00000357789:S847P	S	-	1	0	FLG	150551447	0.001000	0.12720	0.003000	0.11579	0.020000	0.10135	0.252000	0.18278	0.443000	0.26582	0.392000	0.25879	TCA	A|0.984;T|0.016	.	alt		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284823	A	G	152284823	3	3	31	1	0	0	0	0	1	0	0	0	5922	275	10	2	9650	2	FLG	1	152284823	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	4739	152284823	96965798	5	22658										
KPRP	448834	hgsc.bcm.edu	37	chr1	152733644	152733644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	acaccgcctagacaccgaagCtccctactgtggcccatcca	7	18	0	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:152733644C>G	ENST00000606109.1	+	1	1608	c.1580C>G	c.(1579-1581)gCt>gGt	p.A527G	KPRP_ENST00000368773.1_Missense_Mutation_p.A527G			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	527						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACACCGAAGCTCCCTACTGT	0.602																																					p.A527G		Atlas-SNP	.											.	KPRP	152	.	0			c.C1580G						PASS	.						74	70	71					1																	152733644		2203	4300	6503	SO:0001583	missense	448834	exon2			CCGAAGCTCCCTA	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1580C>G	1.37:g.152733644C>G	ENSP00000475216:p.Ala527Gly	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	83	6	0.0722892	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348734	0.24426	.	.	ENSG00000203786	ENST00000368773	T	0.12984	2.63	4.61	1.46	0.22682	.	0.519669	0.16240	N	0.223183	T	0.02083	0.0065	N	0.21194	0.64	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46925	-0.9156	10	0.22706	T	0.39	-2.3812	4.8838	0.13692	0.0:0.5548:0.2368:0.2084	.	527	Q5T749	KPRP_HUMAN	G	527	ENSP00000357762:A527G	ENSP00000357762:A527G	A	+	2	0	KPRP	151000268	0.848000	0.29623	0.007000	0.13788	0.317000	0.28152	1.056000	0.30480	0.224000	0.20940	0.462000	0.41574	GCT	.	.	none		0.602	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		G	152733644	C	G	152733644	3	3	31	1	0	0	0	0	1	0	0	0	8436	797	28	4	1582	4	KPRP	1	152733644	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	448821	152733644	96516977	6	22659										
INTS3	65123	hgsc.bcm.edu	37	chr1	153741377	153741377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttttccatttagtttccagaTgaaaccttgaggagcggaga	10	7	0	4	rs372522734		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:153741377T>G	ENST00000318967.2	+	22	2821	c.2253T>G	c.(2251-2253)gaT>gaG	p.D751E	INTS3_ENST00000456435.1_Missense_Mutation_p.D545E|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.D545E|INTS3_ENST00000435409.2_Missense_Mutation_p.D751E	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	752					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTTTCCAGATGAAACCTTGA	0.488																																					p.D751E		Atlas-SNP	.											.	INTS3	83	.	0			c.T2253G						PASS	.						93	89	90					1																	153741377		2203	4300	6503	SO:0001583	missense	65123	exon22			TCCAGATGAAACC	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2253T>G	1.37:g.153741377T>G	ENSP00000318641:p.Asp751Glu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	84	4	0.047619	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979299	0.34942	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.46	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	N	0.10874	0.06	0.44085	D	0.996848	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.75484	0.986;0.935;0.971	T	0.24728	-1.0152	9	0.19590	T	0.45	.	9.4306	0.38608	0.0:0.0845:0.0:0.9155	.	545;752;751	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	E	751;545;751;545	.	ENSP00000318641:D751E	D	+	3	2	INTS3	152008001	0.997000	0.39634	1.000000	0.80357	0.968000	0.65278	0.276000	0.18716	0.920000	0.36970	0.482000	0.46254	GAT	.	.	none		0.488	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		G	153741377	T	G	153741377	3	3	31	1	0	0	0	0	1	0	0	0	7779	1461	51	5	2339	5	INTS3	1	153741377	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	1007733	153741377	95509244	7	22660										
HSD17B7	51478	hgsc.bcm.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																					p.S173N		Atlas-SNP	.											HSD17B7,NS,carcinoma,0,5	HSD17B7	25	5	4	Substitution - Missense(4)	kidney(2)|endometrium(2)	c.G518A						scavenged	.						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478	exon5			CTCGCAGTGCAAG	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn	Somatic	435	6	0.0137931		WXS	Illumina HiSeq	Phase_I	364	9	0.0247253	NM_016371	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT	.	.	none		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		A	162769603	G	A	162769603	3	1	31	1	0	0	0	0	1	0	0	0	7388	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	9028226	162769603	86481018	8	22661										
USH2A	7399	hgsc.bcm.edu	37	chr1	216424362	216424362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gccatcaggatccaactcttGtagattgtagaatccattct	7	10	3	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:216424362G>T	ENST00000307340.3	-	12	2436	c.2050C>A	c.(2050-2052)Caa>Aaa	p.Q684K	USH2A_ENST00000366942.3_Missense_Mutation_p.Q684K|USH2A_ENST00000366943.2_Missense_Mutation_p.Q684K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	684	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAACTCTTGTAGATTGTAG	0.458										HNSCC(13;0.011)																											p.Q684K		Atlas-SNP	.											.	USH2A	1168	.	0			c.C2050A						PASS	.						152	127	136					1																	216424362		2203	4300	6503	SO:0001583	missense	7399	exon12			ACTCTTGTAGATT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2050C>A	1.37:g.216424362G>T	ENSP00000305941:p.Gln684Lys	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	103	7	0.0679612	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	2.472	-0.321570	0.05386	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.60548	0.18;0.18;0.18	5.26	4.34	0.51931	EGF-like, laminin (4);	0.000000	0.42172	D	0.000754	T	0.53222	0.1783	M	0.69248	2.105	0.09310	N	1	B;B	0.30146	0.061;0.27	B;B	0.34931	0.041;0.192	T	0.42565	-0.9444	10	0.18710	T	0.47	.	8.7337	0.34514	0.0764:0.0:0.7737:0.1499	.	684;684	O75445-2;O75445	.;USH2A_HUMAN	K	684	ENSP00000305941:Q684K;ENSP00000355910:Q684K;ENSP00000355909:Q684K	ENSP00000305941:Q684K	Q	-	1	0	USH2A	214490985	0.947000	0.32204	0.009000	0.14445	0.997000	0.91878	3.904000	0.56325	1.209000	0.43321	0.655000	0.94253	CAA	.	.	none		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216424362	G	T	216424362	3	4	31	1	0	0	0	0	1	0	0	0	17033	1386	48	4	13816	4	USH2A	1	216424362	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	53654759	216424362	32826259	9	22662										
RYR2	6262	hgsc.bcm.edu	37	chr1	237872827	237872827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	agaagcagaggagctcttccGcatggtggctgaagtgttta	14	7	1	3			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:237872827G>T	ENST00000366574.2	+	70	10507	c.10190G>T	c.(10189-10191)cGc>cTc	p.R3397L	RYR2_ENST00000542537.1_Missense_Mutation_p.R3381L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3395L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3397					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCTCTTCCGCATGGTGGCT	0.438																																					p.R3397L		Atlas-SNP	.											RYR2,NS,carcinoma,0,1	RYR2	1273	1	0			c.G10190T						scavenged	.						95	94	94					1																	237872827		1937	4135	6072	SO:0001583	missense	6262	exon70			TCTTCCGCATGGT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10190G>T	1.37:g.237872827G>T	ENSP00000355533:p.Arg3397Leu	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	148	3	0.0202703	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983443	0.53827	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96716	-0.18;-4.1;-0.18	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000005	D	0.97945	0.9324	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97812	1.0251	10	0.45353	T	0.12	-10.8144	19.3938	0.94596	0.0:0.0:1.0:0.0	.	3397	Q92736	RYR2_HUMAN	L	3397;3395;3381;352	ENSP00000355533:R3397L;ENSP00000353174:R3395L;ENSP00000443798:R3381L	ENSP00000353174:R3395L	R	+	2	0	RYR2	235939450	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	5.425000	0.66470	2.576000	0.86940	0.655000	0.94253	CGC	.	.	none		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237872827	G	T	237872827	3	4	31	1	0	0	0	0	1	0	0	0	13769	1087	38	4	10468	4	RYR2	1	237872827	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	21448465	237872827	11377794	10	22663										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525639	248525639	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tttcaagctcctatttactcAtcctcctcaccatccacggg	4	16	3	0	rs34079073|rs76878172	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr1:248525639A>T	ENST00000366475.1	+	1	757	c.757A>T	c.(757-759)Atc>Ttc	p.I253F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CTATTTACTCATCCTCCTCAC	0.522																																					p.I253F		Atlas-SNP	.											OR2T4,brain,glioma,0,1	OR2T4	126	1	0			c.A757T						scavenged	.						94	74	81					1																	248525639		2024	3426	5450	SO:0001583	missense	127074	exon1			TTACTCATCCTCC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757A>T	1.37:g.248525639A>T	ENSP00000355431:p.Ile253Phe	Somatic	605	599	0.990083		WXS	Illumina HiSeq	Phase_I	486	467	0.960905	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250012	0.39797	.	.	ENSG00000196944	ENST00000366475	T	0.00414	7.52	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01835	0.0058	H	0.96142	3.775	0.40727	D	0.98271	D	0.89917	1.0	D	0.85130	0.997	T	0.25117	-1.0141	10	0.87932	D	0	.	11.1471	0.48436	1.0:0.0:0.0:0.0	.	253	Q8NH00	OR2T4_HUMAN	F	253	ENSP00000355431:I253F	ENSP00000355431:I253F	I	+	1	0	OR2T4	246592262	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	7.329000	0.79170	1.264000	0.44198	0.477000	0.44152	ATC	.	.	alt		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525639	A	T	248525639	3	4	31	1	0	0	0	0	1	0	0	0	11027	217	8	5	759	5	OR2T4	1	248525639	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	10652812	248525639	724982	11	22664										
C2orf44	80304	hgsc.bcm.edu	37	chr2	24253911	24253911	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gcacctggactgtgagaaaaAgagtctctgaagacatctga	11	8	2	5			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:24253911A>G	ENST00000295148.4	-	4	2115	c.2058T>C	c.(2056-2058)tcT>tcC	p.S686S	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	686									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAGAAAAAGAGTCTCTGA	0.473			T	ALK	NSCLC																																p.S686S		Atlas-SNP	.		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	C2orf44,bladder,carcinoma,-1,1	C2orf44	56	1	0			c.T2058C						scavenged	.						100	97	98					2																	24253911		2203	4300	6503	SO:0001819	synonymous_variant	80304	exon4			AGAAAAAGAGTCT	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.2058T>C	2.37:g.24253911A>G		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	256	4	0.015625	NM_025203	D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																			.	.	none		0.473	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		G	24253911	A	G	24253911	2	3	31	1	0	0	0	0	0	0	0	1	2168	59	3	3		3	C2orf44	2	24253911	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10		24253911	218945462	12	22665										
VIT	5212	hgsc.bcm.edu	37	chr2	37035632	37035632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	taggccgtgtgcagaacaaaCggcttctactcgctccacgt	10	13	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:37035632C>T	ENST00000389975.3	+	14	1664	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	VIT_ENST00000401530.1_Silent_p.N433N|VIT_ENST00000379242.3_Silent_p.N469N|VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000404084.1_Silent_p.N406N|VIT_ENST00000497382.1_Silent_p.N123N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	454	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622																																					p.N469N		Atlas-SNP	.											.	VIT	138	.	0			c.C1407T						PASS	.						33	29	30					2																	37035632		2203	4300	6503	SO:0001819	synonymous_variant	5212	exon15			AACAAACGGCTTC	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1362C>T	2.37:g.37035632C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	95	8	0.0842105	NM_053276	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	CCDS54347.1																																																																																			.	.	none		0.622	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				T	37035632	C	T	37035632	2	4	31	1	0	0	0	0	0	0	0	1	17168	535	19	1		1	VIT	2	37035632	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	12781721	37035632	206163741	13	22666										
XPO1	7514	hgsc.bcm.edu	37	chr2	61719472	61719472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	agatttaccatgcatgaattCgaacagcttgttaactacag	7	8	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:61719472C>T	ENST00000401558.2	-	15	2438	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	XPO1_ENST00000406957.1_Missense_Mutation_p.E571K|XPO1_ENST00000404992.2_Missense_Mutation_p.E571K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	571	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.E571K(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGCATGAATTCGAACAGCTTG	0.313			Mis		CLL																																p.E571K		Atlas-SNP	.	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	XPO1,NS,carcinoma,0,17	XPO1	108	17	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|prostate(1)|endometrium(1)	c.G1711A						scavenged	.						66	63	64					2																	61719472		2203	4300	6503	SO:0001583	missense	7514	exon15			TGAATTCGAACAG	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1711G>A	2.37:g.61719472C>T	ENSP00000384863:p.Glu571Lys	Somatic	269	0	0		WXS	Illumina HiSeq	Phase_I	262	8	0.0305344	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629400	0.96671	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88632	0.3170	10	0.66056	D	0.02	-19.4383	20.0572	0.97657	0.0:1.0:0.0:0.0	.	218;571	B3KWD0;O14980	.;XPO1_HUMAN	K	571	ENSP00000384863:E571K;ENSP00000385942:E571K;ENSP00000385559:E571K	ENSP00000384863:E571K	E	-	1	0	XPO1	61572976	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.722000	0.84778	2.826000	0.97356	0.655000	0.94253	GAA	.	.	none		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		T	61719472	C	T	61719472	3	4	31	1	0	0	0	0	1	0	0	0	17442	893	31	1	1548	1	XPO1	2	61719472	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	24683840	61719472	181479901	14	22667										
PROKR1	10887	hgsc.bcm.edu	37	chr2	68882188	68882188	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatcttctgcggccagatctGgcctgtggaccagcagctct	12	13	4	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:68882188G>A	ENST00000303786.3	+	3	1082	c.662G>A	c.(661-663)tGg>tAg	p.W221*	PROKR1_ENST00000394342.2_Nonsense_Mutation_p.W221*			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	221					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGCCAGATCTGGCCTGTGGAC	0.552																																					p.W221X		Atlas-SNP	.											.	PROKR1	69	.	0			c.G662A						PASS	.						152	140	144					2																	68882188		2203	4300	6503	SO:0001587	stop_gained	10887	exon2			AGATCTGGCCTGT	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.662G>A	2.37:g.68882188G>A	ENSP00000303775:p.Trp221*	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	88	6	0.0681818	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Nonsense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765035	0.90020	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	.	.	.	4.55	4.55	0.56014	.	0.050126	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6333	0.76929	0.0:0.0:1.0:0.0	.	.	.	.	X	221	.	ENSP00000303775:W221X	W	+	2	0	PROKR1	68735692	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.297000	0.96120	2.816000	0.96949	0.563000	0.77884	TGG	.	.	none		0.552	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			A	68882188	G	A	68882188	4	1	31	1	0	0	0	0	0	1	0	0	12552	1357	47	2	668	2	PROKR1	2	68882188	Nonsense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	7162716	68882188	174317185	15	22668										
LRRTM4	80059	hgsc.bcm.edu	37	chr2	77745507	77745507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatccattaaccgatatatcCatggtctcagagtttgtagg	9	8	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:77745507C>T	ENST00000409093.1	-	3	1824	c.1488G>A	c.(1486-1488)atG>atA	p.M496I	LRRTM4_ENST00000409088.3_Missense_Mutation_p.M496I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M497I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M496I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M497I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	496					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.M496I(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGATATATCCATGGTCTCAG	0.458																																					p.M496I		Atlas-SNP	.											LRRTM4_ENST00000409093,larynx,carcinoma,0,2	LRRTM4	334	2	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)	c.G1488A						scavenged	.						90	88	88					2																	77745507		1882	4122	6004	SO:0001583	missense	80059	exon3			TATATCCATGGTC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1488G>A	2.37:g.77745507C>T	ENSP00000386357:p.Met496Ile	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	92	2	0.0217391	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871162	0.33069	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.50277	0.75;0.77;0.77;0.87;0.88	5.54	5.54	0.83059	.	0.038849	0.85682	D	0.000000	T	0.47248	0.1435	L	0.54323	1.7	0.58432	D	0.999999	B;B;B	0.28082	0.126;0.2;0.128	B;B;B	0.26770	0.033;0.073;0.048	T	0.43442	-0.9391	10	0.51188	T	0.08	.	18.0311	0.89285	0.0:1.0:0.0:0.0	.	497;496;496	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	497;496;496;496;497	ENSP00000387228:M497I;ENSP00000387297:M496I;ENSP00000386357:M496I;ENSP00000386236:M496I;ENSP00000386286:M497I	ENSP00000386236:M496I	M	-	3	0	LRRTM4	77599015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.992000	0.70609	2.592000	0.87571	0.551000	0.68910	ATG	.	.	none		0.458	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77745507	C	T	77745507	3	4	31	1	0	0	0	0	1	0	0	0	9042	594	21	2	298	2	LRRTM4	2	77745507	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	8863319	77745507	165453866	16	22669										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109392255	109392255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aggtgggactgaagtgatggTaccttctttctgtaaatctg	12	6	3	2	rs367864778		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:109392255T>G	ENST00000283195.6	+	24	8486	c.8360T>G	c.(8359-8361)gTa>gGa	p.V2787G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2787					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGTGATGGTACCTTCTTTC	0.383																																					p.V2787G		Atlas-SNP	.											.	RANBP2	488	.	0			c.T8360G						PASS	.	T	GLY/VAL	0,4406		0,0,2203	172	170	171		8360	-3.3	0	2		171	1,8599	1.2+/-3.3	0,1,4299	no	missense	RANBP2	NM_006267.4	109	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	2787/3225	109392255	1,13005	2203	4300	6503	SO:0001583	missense	5903	exon24			TGATGGTACCTTC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8360T>G	2.37:g.109392255T>G	ENSP00000283195:p.Val2787Gly	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	100	5	0.05	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904645	0.33628	0.0	1.16E-4	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27720	1.65	5.58	-3.34	0.04943	.	.	.	.	.	T	0.21590	0.0520	L	0.47716	1.5	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.33929	-0.9849	9	0.17369	T	0.5	2.9813	9.2618	0.37616	0.1243:0.6276:0.0:0.248	.	2787	P49792	RBP2_HUMAN	G	1811;2787	ENSP00000283195:V2787G	ENSP00000283195:V2787G	V	+	2	0	RANBP2	108758687	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.045000	0.01410	-0.487000	0.06735	-0.250000	0.11733	GTA	.	.	weak		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109392255	T	G	109392255	3	3	31	1	0	0	0	0	1	0	0	0	13028	1638	57	5	8454	5	RANBP2	2	109392255	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	31646748	109392255	133807118	17	22670										
GPD2	2820	hgsc.bcm.edu	37	chr2	157369859	157369859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctgtaggtggtggcagttacCttactactgggtaggaatca	13	7	1	0	rs143467322		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:157369859C>T	ENST00000310454.6	+	6	884	c.512C>T	c.(511-513)cCt>cTt	p.P171L	GPD2_ENST00000438166.2_Missense_Mutation_p.P171L|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000540309.1_Missense_Mutation_p.P171L|GPD2_ENST00000409674.1_Missense_Mutation_p.P171L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	171					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGGCAGTTACCTTACTACTGG	0.393																																					p.P171L		Atlas-SNP	.											.	GPD2	59	.	0			c.C512T						PASS	.	C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	153	142	146		512,512	5	1	2	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPD2	NM_000408.4,NM_001083112.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	171/728,171/728	157369859	1,13005	2203	4300	6503	SO:0001583	missense	2820	exon6			AGTTACCTTACTA		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.512C>T	2.37:g.157369859C>T	ENSP00000308610:p.Pro171Leu	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	166	7	0.0421687	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385374	0.82792	0.0	1.16E-4	ENSG00000115159	ENST00000310454;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.99	4.99	0.66335	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	M	0.71036	2.16	0.80722	D	1	B	0.27140	0.169	P	0.46885	0.53	D	0.87211	0.2247	10	0.66056	D	0.02	.	18.6714	0.91513	0.0:1.0:0.0:0.0	.	171	P43304	GPDM_HUMAN	L	171	ENSP00000308610:P171L;ENSP00000409708:P171L;ENSP00000440892:P171L;ENSP00000386425:P171L	ENSP00000308610:P171L	P	+	2	0	GPD2	157078105	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.489000	0.83994	0.655000	0.94253	CCT	C|1.000;T|0.000	0.000	weak		0.393	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			T	157369859	C	T	157369859	3	4	31	1	0	0	0	0	1	0	0	0	6606	681	24	2	530	2	GPD2	2	157369859	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	47977604	157369859	85829514	18	22671										
TTN	7273	hgsc.bcm.edu	37	chr2	179429212	179429212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	taaagctggctttcatccagCggccatcaggtagatctttc	9	11	3	1	rs371910831		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:179429212C>A	ENST00000591111.1	-	276	76948	c.76724G>T	c.(76723-76725)cGc>cTc	p.R25575L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343L|TTN_ENST00000589042.1_Missense_Mutation_p.R27216L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18151L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276L|TTN_ENST00000342992.6_Missense_Mutation_p.R24648L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368																																					p.R27216L		Atlas-SNP	.											TTN_ENST00000359218,colon,carcinoma,-1,6	TTN	18412	6	0			c.G81647T						scavenged	.						70	66	67					2																	179429212		1863	4106	5969	SO:0001583	missense	7273	exon326			ATCCAGCGGCCAT	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.76724G>T	2.37:g.179429212C>A	ENSP00000465570:p.Arg25575Leu	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	211	3	0.014218	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	37		.	.	.	.	.	.	.	.	.	.	C	15.85	2.953735	0.53293	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71459	0.3342	L	0.53671	1.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70421	-0.4876	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	24648;18151;18343;18276;18149	ENSP00000343764:R24648L;ENSP00000434586:R18151L;ENSP00000340554:R18343L;ENSP00000352154:R18276L	ENSP00000340554:R18343L	R	-	2	0	TTN	179137458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGC	.	.	alt		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179429212	C	A	179429212	3	1	31	1	0	0	0	0	1	0	0	0	16732	768	27	4	26480	4	TTN	2	179429212	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	22059353	179429212	63770161	19	22672										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186671112	186671112	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatgttttagaactatcttcTtctccagaaccagcatatta	5	9	3	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:186671112T>G	ENST00000424728.1	+	17	17079	c.17079T>G	c.(17077-17079)tcT>tcG	p.S5693S	FSIP2_ENST00000343098.5_Silent_p.S5782S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5693										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACTATCTTCTTCTCCAGAAC	0.373																																					p.S5782S		Atlas-SNP	.											.	FSIP2	251	.	0			c.T17346G						PASS	.						91	85	87					2																	186671112		1827	4088	5915	SO:0001819	synonymous_variant	401024	exon17			ATCTTCTTCTCCA	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17079T>G	2.37:g.186671112T>G		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	195	8	0.0410256	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																				.	.	none		0.373	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186671112	T	G	186671112	2	3	31	1	0	0	0	0	0	0	0	1	6075	1596	56	5		5	FSIP2	2	186671112	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	7241900	186671112	56528261	20	22673										
PIKFYVE	200576	hgsc.bcm.edu	37	chr2	209218719	209218719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gctagatgaaaatctcctaaAgatggttcgagacaaccctc	8	10	1	4			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:209218719A>G	ENST00000264380.4	+	40	6100	c.5942A>G	c.(5941-5943)aAg>aGg	p.K1981R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1981	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AATCTCCTAAAGATGGTTCGA	0.418																																					p.K1981R		Atlas-SNP	.											.	PIKFYVE	223	.	0			c.A5942G						PASS	.						142	145	144					2																	209218719		2203	4300	6503	SO:0001583	missense	200576	exon40			TCCTAAAGATGGT	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5942A>G	2.37:g.209218719A>G	ENSP00000264380:p.Lys1981Arg	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	128	7	0.0546875	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651372	0.88056	.	.	ENSG00000115020	ENST00000264380	T	0.30182	1.54	6.17	6.17	0.99709	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.28458	0.855	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.39860	-0.9593	10	0.59425	D	0.04	-24.4674	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1981	Q9Y2I7	FYV1_HUMAN	R	1981	ENSP00000264380:K1981R	ENSP00000264380:K1981R	K	+	2	0	PIKFYVE	208926964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.401000	0.79962	2.371000	0.80710	0.533000	0.62120	AAG	.	.	none		0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209218719	A	G	209218719	3	3	31	1	0	0	0	0	1	0	0	0	11924	72	3	3	6107	3	PIKFYVE	2	209218719	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	22547607	209218719	33980654	21	22674										
ABCA12	26154	hgsc.bcm.edu	37	chr2	215855677	215855677	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aatgatgaggatcacgatggTaaccagtaaaaatccaacac	8	8	1	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:215855677T>G	ENST00000272895.7	-	24	3592	c.3373A>C	c.(3373-3375)Acc>Ccc	p.T1125P	ABCA12_ENST00000389661.4_Missense_Mutation_p.T807P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1125					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCACGATGGTAACCAGTAAA	0.388																																					p.T1125P	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.A3373C						PASS	.						100	102	101					2																	215855677		2203	4300	6503	SO:0001583	missense	26154	exon24			CGATGGTAACCAG	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3373A>C	2.37:g.215855677T>G	ENSP00000272895:p.Thr1125Pro	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	87	4	0.045977	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767808	0.69878	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85773	-2.03;-2.03	5.39	5.39	0.77823	.	0.158061	0.45361	D	0.000373	D	0.92172	0.7518	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.976	D;D	0.70487	0.969;0.937	D	0.93226	0.6613	10	0.87932	D	0	.	15.5646	0.76281	0.0:0.0:0.0:1.0	.	1125;807	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	1125;807	ENSP00000272895:T1125P;ENSP00000374312:T807P	ENSP00000272895:T1125P	T	-	1	0	ABCA12	215563922	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.832000	0.86757	2.263000	0.75096	0.528000	0.53228	ACC	.	.	none		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215855677	T	G	215855677	3	3	31	1	0	0	0	0	1	0	0	0	30	1638	57	5	4534	5	ABCA12	2	215855677	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	6636958	215855677	27343696	22	22675										
GPR55	9290	hgsc.bcm.edu	37	chr2	231774792	231774792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gtgggccctgatgttcatgcGgaattctttgatgacaaagt	12	7	2	3			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr2:231774792G>A	ENST00000392040.1	-	2	1078	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	GPR55_ENST00000392039.2_Missense_Mutation_p.R296C|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	296					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGTTCATGCGGAATTCTTTG	0.532																																					p.R296C		Atlas-SNP	.											GPR55,colon,carcinoma,+1,1	GPR55	46	1	0			c.C886T						PASS	.						83	85	84					2																	231774792		2203	4300	6503	SO:0001583	missense	9290	exon2			TCATGCGGAATTC	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.886C>T	2.37:g.231774792G>A	ENSP00000375894:p.Arg296Cys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	80	4	0.05	NM_005683	Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650184	0.67472	.	.	ENSG00000135898	ENST00000392040;ENST00000392039	T;T	0.58358	0.34;0.34	4.6	3.65	0.41850	.	0.057515	0.64402	D	0.000002	T	0.49029	0.1533	N	0.08118	0	0.48975	D	0.999738	D	0.89917	1.0	D	0.65874	0.939	T	0.57516	-0.7798	10	0.87932	D	0	-42.499	11.8792	0.52564	0.0:0.0:0.8252:0.1748	.	296	Q9Y2T6	GPR55_HUMAN	C	296	ENSP00000375894:R296C;ENSP00000375893:R296C	ENSP00000375893:R296C	R	-	1	0	GPR55	231483036	0.999000	0.42202	0.980000	0.43619	0.953000	0.61014	2.382000	0.44345	2.522000	0.85027	0.561000	0.74099	CGC	.	.	none		0.532	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		A	231774792	G	A	231774792	3	1	31	1	0	0	0	0	1	0	0	0	6699	1116	39	1	77	1	GPR55	2	231774792	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	15919115	231774792	11424581	23	22676										
OGG1	4968	hgsc.bcm.edu	37	chr3	9792009	9792009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctgcccaggcgcatggggcaTcgtactctagcctccactcc	10	17	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:9792009T>G	ENST00000344629.7	+	1	382	c.39T>G	c.(37-39)caT>caG	p.H13Q	OGG1_ENST00000449570.2_Missense_Mutation_p.H13Q|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000383826.5_Missense_Mutation_p.H13Q|OGG1_ENST00000339511.5_Missense_Mutation_p.H13Q|OGG1_ENST00000349503.5_Missense_Mutation_p.H13Q|OGG1_ENST00000302036.7_Missense_Mutation_p.H13Q|OGG1_ENST00000302008.8_Missense_Mutation_p.H13Q|OGG1_ENST00000302003.7_Missense_Mutation_p.H13Q			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	13					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCATGGGGCATCGTACTCTAG	0.667								Base excision repair (BER), DNA glycosylases																													p.H13Q		Atlas-SNP	.											.	OGG1	57	.	0			c.T39G						PASS	.						51	46	48					3																	9792009		2203	4300	6503	SO:0001583	missense	4968	exon1			GGGGCATCGTACT	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.39T>G	3.37:g.9792009T>G	ENSP00000342851:p.His13Gln	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	119	12	0.10084	NM_016819	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645755	0.87958	.	.	ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.85	-2.38	0.06622	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.044063	0.85682	D	0.000000	T	0.62441	0.2428	M	0.61703	1.905	0.36706	D	0.88038	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.993;0.996;0.994;0.996	D;D;P;P;P;P;P;P	0.65573	0.915;0.936;0.892;0.765;0.701;0.764;0.832;0.843	T	0.67776	-0.5583	10	0.72032	D	0.01	-25.825	12.1556	0.54074	0.0:0.6561:0.1289:0.215	.	13;13;13;13;13;13;13;13	E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.;.;.;.;.;.;OGG1_HUMAN;.	Q	13	ENSP00000305584:H13Q;ENSP00000342851:H13Q;ENSP00000306561:H13Q;ENSP00000303132:H13Q;ENSP00000345520:H13Q;ENSP00000403598:H13Q;ENSP00000305527:H13Q;ENSP00000373337:H13Q	ENSP00000305584:H13Q	H	+	3	2	OGG1	9767009	0.905000	0.30787	0.598000	0.28837	0.920000	0.55202	-0.374000	0.07484	-0.414000	0.07495	0.533000	0.62120	CAT	.	.	none		0.667	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		G	9792009	T	G	9792009	3	3	31	1	0	0	0	0	1	0	0	0	10845	1432	50	5	41	5	OGG1	3	9792009	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		9792009	188230421	24	22677										
KAT2B	8850	hgsc.bcm.edu	37	chr3	20178459	20178459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tggaacacacctgatgaatcAtttgaaagaatatcacataa	6	7	2	4			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:20178459A>G	ENST00000263754.4	+	12	2230	c.1775A>G	c.(1774-1776)cAt>cGt	p.H592R	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	592	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTGATGAATCATTTGAAAGAA	0.353																																					p.H592R		Atlas-SNP	.											KAT2B,trunk,malignant_melanoma,+1,1	KAT2B	73	1	0			c.A1775G						PASS	.						129	112	118					3																	20178459		2203	4300	6503	SO:0001583	missense	8850	exon12			TGAATCATTTGAA	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1775A>G	3.37:g.20178459A>G	ENSP00000263754:p.His592Arg	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	100	7	0.07	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709027	0.89018	.	.	ENSG00000114166	ENST00000263754	T	0.24908	1.83	5.66	5.66	0.87406	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.61657	-0.7018	10	0.87932	D	0	-21.8842	16.2026	0.82095	1.0:0.0:0.0:0.0	.	592	Q92831	KAT2B_HUMAN	R	592	ENSP00000263754:H592R	ENSP00000263754:H592R	H	+	2	0	KAT2B	20153463	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.285000	0.76669	0.533000	0.62120	CAT	.	.	none		0.353	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		G	20178459	A	G	20178459	3	3	31	1	0	0	0	0	1	0	0	0	7982	217	8	2	1821	2	KAT2B	3	20178459	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	10386450	20178459	177843971	25	22678										
MST1	327	hgsc.bcm.edu	37	chr3	49723881	49723881	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tcccgcggaagcagctgacaGttgtggcctcttggcggggc	16	12	1	1	rs6777426	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:49723881G>C	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.T294S|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_Missense_Mutation_p.T219S|MST1_ENST00000545762.1_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.T280S(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTGACAGTTGTGGCCTC	0.652																																					p.T294S		Atlas-SNP	.											MST1,extremity,malignant_melanoma,0,1	MST1	84	1	1	Substitution - Missense(1)	skin(1)	c.C881G						scavenged	.						33	36	35					3																	49723881		2201	4298	6499	SO:0001628	intergenic_variant	4485	exon8			CTGACAGTTGTGG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723881G>C		Somatic	80	1	0.0125		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_020998	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417297	0.83449	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	D;T	0.87887	-2.31;-0.48	5.67	4.75	0.60458	Kringle (1);	0.339887	0.21177	N	0.078900	T	0.81545	0.4845	L	0.33137	0.985	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.77723	-0.2481	10	0.54805	T	0.06	.	14.5452	0.68024	0.0:0.0:0.8533:0.1467	rs6777426	280;294	P26927;G3XAK1	HGFL_HUMAN;.	S	294;219	ENSP00000414287:T294S;ENSP00000373234:T219S	ENSP00000373234:T219S	T	-	2	0	MST1	49698885	1.000000	0.71417	0.025000	0.17156	0.854000	0.48673	6.531000	0.73820	2.673000	0.90976	0.655000	0.94253	ACT	G|0.986;C|0.014	0.014	strong		0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49723881	G	C	49723881	1	2	31	0	1	0	0	0	0	0	0	0	9890	1029	36	4		4	MST1	3	49723881	IGR	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	29545422	49723881	148298549	26	22679										
MAGI1	9223	hgsc.bcm.edu	37	chr3	65425603	65425603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgctgctgttgctgctgctgTtgctgctgctgctgctgctc	13	12	0	0	rs113562374|rs62642828	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:65425603T>C	ENST00000497477.2	-	9	1220	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q407Q|MAGI1_ENST00000402939.2_Silent_p.Q407Q|MAGI1_ENST00000330909.8_Silent_p.Q407Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	407	Poly-Gln.				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)		gctgctgctgttgctgctgct	0.532											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q407Q		Atlas-SNP	.											.	MAGI1	481	.	0			c.A1221G						PASS	.						77	69	72					3																	65425603		2202	4299	6501	SO:0001819	synonymous_variant	9223	exon9			CTGCTGTTGCTGC	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.1221A>G	3.37:g.65425603T>C		Somatic	122	0	0	1084	WXS	Illumina HiSeq	Phase_I	123	6	0.0487805	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324601	0.05350	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.74	-1.34	0.09143	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.28889	N	0.893947	.	.	.	.	.	.	T	0.31668	-0.9935	4	.	.	.	2.613	7.1494	0.25601	0.123:0.2818:0.0:0.5952	.	.	.	.	S	288	.	.	N	-	2	0	MAGI1	65400643	0.949000	0.32298	0.008000	0.14137	0.009000	0.06853	-0.343000	0.07791	-1.060000	0.03189	-1.632000	0.00781	AAC	T|0.742;C|0.258	0.258	strong		0.532	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		C	65425603	T	C	65425603	2	2	31	1	0	0	0	0	0	0	0	1	9190	1722	60	2		2	MAGI1	3	65425603	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	15701722	65425603	132596827	27	22680										
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851659	97851659	+	Missense_Mutation	SNP	A	A	T													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	taatatatctcatcaccatcAtggggaatcttggtctgatt					rs199787047	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																					p.M40L		Atlas-SNP	.											OR5H1,NS,carcinoma,-2,7	OR5H1	71	7	3	Substitution - Missense(3)	kidney(2)|endometrium(1)	c.A118T						scavenged	.						45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341	exon1			ACCATCATGGGGA	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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu	Somatic	546	4	0.00732601		WXS	Illumina HiSeq	Phase_I	526	7	0.013308	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG	A|0.978;T|0.022	0.022	strong		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	31	1	0	0	0	0	1	0	0	0	11159	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	32426056	97851659	100170771	28	22681	464	2								
OR5H1	26341	hgsc.bcm.edu	37	chr3	97851661	97851661	+	Missense_Mutation	SNP	G	G	T													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	atatatctcatcaccatcatGgggaatcttggtctgattgc					rs200721525	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:97851661G>T	ENST00000354565.2	+	1	120	c.120G>T	c.(118-120)atG>atT	p.M40I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40I(4)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCACCATCATGGGGAATCTTG	0.413																																					p.M40I		Atlas-SNP	.											OR5H1,NS,carcinoma,0,7	OR5H1	71	7	4	Substitution - Missense(4)	endometrium(2)|kidney(2)	c.G120T						scavenged	.						46	50	48					3																	97851661		2173	4250	6423	SO:0001583	missense	26341	exon1			CATCATGGGGAAT	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.120G>T	3.37:g.97851661G>T	ENSP00000346575:p.Met40Ile	Somatic	559	4	0.00715563		WXS	Illumina HiSeq	Phase_I	540	7	0.012963	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108676	0.06924	.	.	ENSG00000231192	ENST00000354565	T	0.00433	7.43	3.63	2.75	0.32379	.	0.578292	0.14348	N	0.325303	T	0.00178	0.0005	N	0.02842	-0.48	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.29882	-0.9997	10	0.33940	T	0.23	.	8.5896	0.33679	0.1182:0.0:0.8818:0.0	.	40	A6NKK0	OR5H1_HUMAN	I	40	ENSP00000346575:M40I	ENSP00000346575:M40I	M	+	3	0	OR5H1	99334351	0.002000	0.14202	0.678000	0.29963	0.118000	0.20060	-0.111000	0.10807	0.729000	0.32403	0.195000	0.17529	ATG	G|0.982;T|0.018	0.018	strong		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851661	G	T	97851661	3	4	31	1	0	0	0	0	1	0	0	0	11159	1348	47	4	122	4	OR5H1	3	97851661	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	2	97851661	100170769	29	22682	464	2								
CD200R1L	344807	hgsc.bcm.edu	37	chr3	112546302	112546302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccgtcatgagtggtgtccacCggacgaatctgaaggtccga	13	11	2	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:112546302C>T	ENST00000398214.1	-	3	567	c.342G>A	c.(340-342)ccG>ccA	p.P114P	CD200R1L_ENST00000448932.1_Silent_p.P93P|CD200R1L_ENST00000488794.1_Silent_p.P93P	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	114	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGGTGTCCACCGGACGAATCT	0.458																																					p.P114P		Atlas-SNP	.											CD200R1L,colon,carcinoma,-1,1	CD200R1L	47	1	0			c.G342A						scavenged	.						145	140	142					3																	112546302		2203	4300	6503	SO:0001819	synonymous_variant	344807	exon3			GTCCACCGGACGA	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.342G>A	3.37:g.112546302C>T		Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	297	4	0.013468	NM_001008784	Q6WHB7	Silent	SNP	ENST00000398214.1	37	CCDS43131.1																																																																																			.	.	none		0.458	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		T	112546302	C	T	112546302	2	4	31	1	0	0	0	0	0	0	0	1	2982	639	23	1		1	CD200R1L	3	112546302	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	14694641	112546302	85476128	30	22683										
EIF2B5	8893	hgsc.bcm.edu	37	chr3	183853228	183853228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tggttagtcgggctaacaagCgcagcggcgcggggccggga	19	10	0	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:183853228C>T	ENST00000273783.3	+	1	177	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-778D9.13_ENST00000609288.1_lincRNA|RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000444495.1_Missense_Mutation_p.R19C|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000432569.1_Missense_Mutation_p.R19C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	19					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGCTAACAAGCGCAGCGGCGC	0.687											OREG0015363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R19C		Atlas-SNP	.											.	EIF2B5	62	.	0			c.C55T						PASS	.						6	8	7					3																	183853228		2147	4220	6367	SO:0001583	missense	8893	exon1			AACAAGCGCAGCG	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.55C>T	3.37:g.183853228C>T	ENSP00000273783:p.Arg19Cys	Somatic	171	0	0	1987	WXS	Illumina HiSeq	Phase_I	151	7	0.0463576	NM_003907	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	15.18	2.756467	0.49362	.	.	ENSG00000145191	ENST00000273783;ENST00000432569;ENST00000444495	D;D;D	0.98150	-4.74;-4.08;-4.75	4.93	4.93	0.64822	.	0.270105	0.30959	N	0.008529	D	0.94666	0.8280	N	0.08118	0	0.54753	D	0.999983	D	0.76494	0.999	P	0.50754	0.649	D	0.95051	0.8187	10	0.66056	D	0.02	-12.6109	13.4835	0.61351	0.0:0.8436:0.1564:0.0	.	19	Q13144	EI2BE_HUMAN	C	19	ENSP00000273783:R19C;ENSP00000414775:R19C;ENSP00000409142:R19C	ENSP00000273783:R19C	R	+	1	0	EIF2B5	185335922	1.000000	0.71417	0.995000	0.50966	0.168000	0.22595	2.282000	0.43461	2.719000	0.93026	0.650000	0.86243	CGC	.	.	none		0.687	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183853228	C	T	183853228	3	4	31	1	0	0	0	0	1	0	0	0	5004	768	27	1	57	1	EIF2B5	3	183853228	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	71306926	183853228	14169202	31	22684										
RFC4	5984	hgsc.bcm.edu	37	chr3	186507948	186507948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tacggcaagtttttctgtgaTaatagacttctgtttatcag	8	6	3	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:186507948T>C	ENST00000392481.2	-	10	1260	c.979A>G	c.(979-981)Atc>Gtc	p.I327V	SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Missense_Mutation_p.I300V|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000296273.2_Missense_Mutation_p.I327V	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	327					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTTTCTGTGATAATAGACTTC	0.353																																					p.I327V		Atlas-SNP	.											.	RFC4	54	.	0			c.A979G						PASS	.						107	103	105					3																	186507948		2203	4300	6503	SO:0001583	missense	5984	exon10			CTGTGATAATAGA		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.979A>G	3.37:g.186507948T>C	ENSP00000376272:p.Ile327Val	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	241	20	0.0829876	NM_181573	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966155	0.53507	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000417876	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.85	5.85	0.93711	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.81802	2.56	0.80722	D	1	B	0.16802	0.019	B	0.31614	0.133	T	0.57516	-0.7798	10	0.59425	D	0.04	-17.5765	14.1937	0.65656	0.0:0.0:0.0:1.0	.	327	P35249	RFC4_HUMAN	V	300;327;327;102	ENSP00000399769:I300V;ENSP00000376272:I327V;ENSP00000296273:I327V;ENSP00000401429:I102V	ENSP00000296273:I327V	I	-	1	0	RFC4	187990642	1.000000	0.71417	0.268000	0.24571	0.954000	0.61252	5.725000	0.68507	2.229000	0.72834	0.533000	0.62120	ATC	.	.	none		0.353	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		C	186507948	T	C	186507948	3	2	31	1	0	0	0	0	1	0	0	0	13247	1406	49	2	120	2	RFC4	3	186507948	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	2654720	186507948	11514482	32	22685										
WDR53	348793	hgsc.bcm.edu	37	chr3	196281315	196281315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cttcctgtgggtacgttttgTgggactcttctgttttttct	10	8	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr3:196281315T>C	ENST00000332629.5	-	4	1411	c.844A>G	c.(844-846)Aca>Gca	p.T282A	WDR53_ENST00000433160.1_Missense_Mutation_p.T123A|WDR53_ENST00000429115.1_Missense_Mutation_p.T121A	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	282										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GTACGTTTTGTGGGACTCTTC	0.443																																					p.T282A		Atlas-SNP	.											.	WDR53	26	.	0			c.A844G						PASS	.						244	210	221					3																	196281315		2203	4300	6503	SO:0001583	missense	348793	exon4			GTTTTGTGGGACT	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"WD repeat domain containing"	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.844A>G	3.37:g.196281315T>C	ENSP00000328079:p.Thr282Ala	Somatic	669	0	0		WXS	Illumina HiSeq	Phase_I	619	28	0.0452342	NM_182627	A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	T	0.841	-0.742019	0.03088	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.72505	-0.66;1.24;1.24	5.67	1.29	0.21616	.	0.959404	0.08745	N	0.899979	T	0.47154	0.1430	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	10	0.14656	T	0.56	-7.5464	8.8373	0.35119	0.0:0.6094:0.0:0.3906	.	282	Q7Z5U6	WDR53_HUMAN	A	282;121;123	ENSP00000328079:T282A;ENSP00000396668:T121A;ENSP00000410677:T123A	ENSP00000328079:T282A	T	-	1	0	WDR53	197765712	0.000000	0.05858	0.008000	0.14137	0.027000	0.11550	0.693000	0.25497	0.229000	0.21039	0.528000	0.53228	ACA	.	.	none		0.443	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		C	196281315	T	C	196281315	3	2	31	1	0	0	0	0	1	0	0	0	17302	1696	59	2	236	2	WDR53	3	196281315	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	9773367	196281315	1741115	33	22686										
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		Atlas-SNP	.											CRIPAK,rectum,carcinoma,0,1	CRIPAK	185	1	0			c.T675C						scavenged	.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	47	8	0.170213		WXS	Illumina HiSeq	Phase_I	42	8	0.190476	NM_175918	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000	1.000	weak		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	31	1	0	0	0	0	0	0	0	1	3877	1461	51	2		2	CRIPAK	4	1388974	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		1388974	189765302	34	22687										
BTC	685	hgsc.bcm.edu	37	chr4	75681165	75681165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	acctagagaagtggcctttcCgctttgattgtgtggtggta	13	7	0	2	rs375367986		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr4:75681165C>T	ENST00000395743.3	-	3	545	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	62					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)			GTGGCCTTTCCGCTTTGATTG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20016	0.0		0.0	False		,,,				2504	0.001				p.R62Q		Atlas-SNP	.											BTC,NS,carcinoma,-1,3	BTC	23	3	0			c.G185A						scavenged	.	C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	228	211	217		185	2	0	4		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	BTC	NM_001729.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	62/179	75681165	1,13005	2203	4300	6503	SO:0001583	missense	685	exon3			CCTTTCCGCTTTG	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.185G>A	4.37:g.75681165C>T	ENSP00000379092:p.Arg62Gln	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	276	6	0.0217391	NM_001729	Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	CCDS3566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.24|11.24	1.581121|1.581121	0.28180|0.28180	0.0|0.0	1.16E-4|1.16E-4	ENSG00000174808|ENSG00000174808	ENST00000512743|ENST00000395743	.|T	.|0.14391	.|2.51	4.69|4.69	1.96|1.96	0.26148|0.26148	.|.	.|0.483385	.|0.23847	.|N	.|0.043992	T|T	0.11410|0.11410	0.0278|0.0278	L|L	0.57536|0.57536	1.79|1.79	0.22050|0.22050	N|N	0.999393|0.999393	.|P	.|0.52577	.|0.954	.|B	.|0.41332	.|0.354	T|T	0.21211|0.21211	-1.0252|-1.0252	5|10	.|0.23891	.|T	.|0.37	-8.4393|-8.4393	5.219|5.219	0.15358|0.15358	0.1475:0.6263:0.1427:0.0835|0.1475:0.6263:0.1427:0.0835	.|.	.|62	.|P35070	.|BTC_HUMAN	R|Q	41|62	.|ENSP00000379092:R62Q	.|ENSP00000379092:R62Q	G|R	-|-	1|2	0|0	BTC|BTC	75900189|75900189	0.002000|0.002000	0.14202|0.14202	0.029000|0.029000	0.17559|0.17559	0.599000|0.599000	0.36880|0.36880	0.463000|0.463000	0.21972|0.21972	0.265000|0.265000	0.21872|0.21872	-0.123000|-0.123000	0.14984|0.14984	GGA|CGG	.	.	weak		0.428	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			T	75681165	C	T	75681165	3	4	31	1	0	0	0	0	1	0	0	0	1549	652	23	1	363	1	BTC	4	75681165	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	74292191	75681165	115473111	35	22688										
EPB41L4A	64097	hgsc.bcm.edu	37	chr5	111500816	111500817	+	Splice_Site	INS	-	-	TAAAA													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctttagacccatttcttctcINStaaaatatatttgaaaaatg					rs145708081|rs369027426		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr5:111500816_111500817insTAAAA	ENST00000261486.5	-	23	2209		c.e23-1		EPB41L4A-AS1_ENST00000413221.2_lincRNA|EPB41L4A_ENST00000507810.1_Intron	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CATTTCTTCTCTAAAATATATT	0.317																																					.		Atlas-Indel	.											.	EPB41L4A	130	.	0			c.1933-1->TTTTA						PASS	.			3408,36		1689,30,3						5.3	1		dbSNP_134	59	7446,316		3600,246,35	no	splice-3	EPB41L4A	NM_022140.3		5289,276,38	A1A1,A1R,RR		4.0711,1.0453,3.1412				10854,352				SO:0001630	splice_region_variant	64097	exon24			.	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1933-1->TTTTA	5.37:g.111500817_111500821dupTAAAA		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	232	25	0.107759	NM_022140	A4FUI6	Splice_Site	INS	ENST00000261486.5	37	CCDS43350.1																																																																																			-|0.025;TAAAA|0.975	0.975	strong		0.317	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Intron	TAAAA	111500817	-	TAAAA	111500816	8	5	31	1	0	1	1	0	0	0	1	0	5155	927	32	0	132	0	EPB41L4A	5	111500816	Splice_Site	INS	-	TCGA-GS-A9TV-01A-11D-A382-10		111500816	69414444	36	22689										
PDLIM4	8572	hgsc.bcm.edu	37	chr5	131607911	131607911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgtaccccaatgccaaggtgGaactcgtctgagctgggacc	12	12	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr5:131607911G>A	ENST00000253754.3	+	7	1046	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	PDLIM4_ENST00000379018.3_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	328							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCAAGGTGGAACTCGTCTG	0.607																																					p.E328K		Atlas-SNP	.											.	PDLIM4	22	.	0			c.G982A						PASS	.						44	45	45					5																	131607911		2203	4300	6503	SO:0001583	missense	8572	exon7			AAGGTGGAACTCG	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.982G>A	5.37:g.131607911G>A	ENSP00000253754:p.Glu328Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	52	6	0.115385	NM_003687	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192528	0.94960	.	.	ENSG00000131435	ENST00000253754	T	0.14516	2.5	5.05	4.16	0.48862	.	0.276256	0.34435	N	0.003965	T	0.28001	0.0690	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02526	-1.1146	10	0.87932	D	0	-8.9848	15.2133	0.73244	0.0:0.1416:0.8584:0.0	.	328	P50479	PDLI4_HUMAN	K	328	ENSP00000253754:E328K	ENSP00000253754:E328K	E	+	1	0	PDLIM4	131635810	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.617000	0.98361	1.068000	0.40764	0.655000	0.94253	GAA	.	.	none		0.607	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		A	131607911	G	A	131607911	3	1	31	1	0	0	0	0	1	0	0	0	11682	1175	41	2	1008	2	PDLIM4	5	131607911	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	20107095	131607911	49307349	37	22690										
PCDHA2	56146	hgsc.bcm.edu	37	chr5	140175218	140175218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gggggcaaacctgagctcacGggcaccgttcaaatacttat	11	11	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr5:140175218G>A	ENST00000526136.1	+	1	669	c.669G>A	c.(667-669)acG>acA	p.T223T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.T223T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.T223T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGCTCACGGGCACCGTTC	0.418																																					p.T223T		Atlas-SNP	.											PCDHA2_ENST00000526136,NS,carcinoma,+1,2	PCDHA2	404	2	0			c.G669A						scavenged	.						80	90	86					5																	140175218		2202	4300	6502	SO:0001819	synonymous_variant	56146	exon1			GCTCACGGGCACC	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.669G>A	5.37:g.140175218G>A		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	73	2	0.0273973	NM_031495	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																			.	.	none		0.418	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140175218	G	A	140175218	2	1	31	1	0	0	0	0	0	0	0	1	11524	1103	39	1		1	PCDHA2	5	140175218	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	8567307	140175218	40740042	38	22691										
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140552992	140552992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggggaggggaatatctatccCgaattggtgctgaatcaagt	14	6	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr5:140552992C>T	ENST00000231137.3	+	1	750	c.576C>T	c.(574-576)ccC>ccT	p.P192P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATCTATCCCGAATTGGTGC	0.493																																					p.P192P		Atlas-SNP	.											PCDHB7,bladder,carcinoma,0,1	PCDHB7	231	1	0			c.C576T						scavenged	.						69	66	67					5																	140552992		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			CTATCCCGAATTG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.576C>T	5.37:g.140552992C>T		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	121	4	0.0330578	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.	.	none		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140552992	C	T	140552992	2	4	31	1	0	0	0	0	0	0	0	1	11547	639	23	1		1	PCDHB7	5	140552992	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	377774	140552992	40362268	39	22692										
FBXO38	81545	hgsc.bcm.edu	37	chr5	147813265	147813265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttgtggaatcacagatctagTgctaaaagactgtccaaaga	9	7	2	3			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr5:147813265T>C	ENST00000340253.5	+	17	2990	c.2822T>C	c.(2821-2823)gTg>gCg	p.V941A	FBXO38_ENST00000394370.3_Missense_Mutation_p.V866A|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Missense_Mutation_p.V696A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V696A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	941					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)			ACAGATCTAGTGCTAAAAGAC	0.328																																					p.V866A		Atlas-SNP	.											.	FBXO38	115	.	0			c.T2597C						PASS	.						147	150	149					5																	147813265		2203	4300	6503	SO:0001583	missense	81545	exon17			ATCTAGTGCTAAA	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.2822T>C	5.37:g.147813265T>C	ENSP00000342023:p.Val941Ala	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	226	10	0.0442478	NM_030793	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.426516	0.83667	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38240	1.15;1.24;1.21;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.34521	1.04	0.35153	D	0.769977	P;D;D	0.71674	0.954;0.998;0.998	D;D;D	0.77557	0.932;0.979;0.99	T	0.62431	-0.6856	10	0.87932	D	0	-14.1344	14.1172	0.65161	0.0:0.0:0.0:1.0	.	696;866;941	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	A	941;696;866;696	ENSP00000342023:V941A;ENSP00000296701:V696A;ENSP00000377895:V866A;ENSP00000426410:V696A	ENSP00000296701:V696A	V	+	2	0	FBXO38	147793458	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	7.679000	0.84048	2.069000	0.61940	0.460000	0.39030	GTG	.	.	none		0.328	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		C	147813265	T	C	147813265	3	2	31	1	0	0	0	0	1	0	0	0	5746	1696	59	2	2884	2	FBXO38	5	147813265	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	7260273	147813265	33101995	40	22693										
DSP	1832	hgsc.bcm.edu	37	chr6	7584037	7584037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tccagtcaccaaaaagaaggTcagttacgtgcagctgaagg	11	9	2	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:7584037T>G	ENST00000379802.3	+	24	6883	c.6542T>G	c.(6541-6543)gTc>gGc	p.V2181G	DSP_ENST00000418664.2_Missense_Mutation_p.V1582G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2181	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAAGAAGGTCAGTTACGTG	0.478																																					p.V2181G		Atlas-SNP	.											.	DSP	306	.	0			c.T6542G						PASS	.						103	101	102					6																	7584037		2203	4300	6503	SO:0001583	missense	1832	exon24			AGAAGGTCAGTTA	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6542T>G	6.37:g.7584037T>G	ENSP00000369129:p.Val2181Gly	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	57	6	0.105263	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275748	0.40294	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70749	-0.51;-0.51	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000058	T	0.62950	0.2470	L	0.55990	1.75	0.41567	D	0.988661	P;D	0.56521	0.925;0.976	P;B	0.46758	0.526;0.335	T	0.67078	-0.5761	10	0.46703	T	0.11	.	15.6695	0.77262	0.0:0.0:0.0:1.0	.	1629;2181	Q4LE79;P15924	.;DESP_HUMAN	G	2181;1582	ENSP00000369129:V2181G;ENSP00000396591:V1582G	ENSP00000369129:V2181G	V	+	2	0	DSP	7529036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.250000	0.72435	2.178000	0.69098	0.533000	0.62120	GTC	.	.	none		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7584037	T	G	7584037	3	3	31	1	0	0	0	0	1	0	0	0	4781	1667	58	5	6636	5	DSP	6	7584037	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		7584037	163531030	41	22694										
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327915	16327915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgctgctgctgctgatgctgAtgctgctgctgctgctgctg	14	11	0	2	rs11969612|rs369629396	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:16327915A>C	ENST00000244769.4	-	8	1563	c.627T>G	c.(625-627)caT>caG	p.H209Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H209Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgct	0.667																																					p.H209Q		Atlas-SNP	.											ATXN1,colon,carcinoma,0,1	ATXN1	117	1	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.T627G						scavenged	.						4	8	7					6																	16327915		1573	3520	5093	SO:0001583	missense	6310	exon7			ATGCTGATGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.627T>G	6.37:g.16327915A>C	ENSP00000244769:p.His209Gln	Somatic	37	1	0.027027		WXS	Illumina HiSeq	Phase_I	58	16	0.275862	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	A	0.432	-0.902695	0.02453	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.31510	1.49;1.49	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	P	0.34662	0.462	B	0.36534	0.227	T	0.35724	-0.9777	8	0.19147	T	0.46	.	.	.	.	rs11969612	209	P54253	ATX1_HUMAN	Q	209	ENSP00000244769:H209Q;ENSP00000416360:H209Q	ENSP00000244769:H209Q	H	-	3	2	ATXN1	16435894	0.098000	0.21812	0.014000	0.15608	0.050000	0.14768	-1.578000	0.02125	-1.642000	0.01521	-1.674000	0.00743	CAT	A|0.571;C|0.429	0.429	strong		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16327915	A	C	16327915	3	2	31	1	0	0	0	0	1	0	0	0	1209	330	12	5	1828	5	ATXN1	6	16327915	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	8743878	16327915	154787152	42	22695										
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234939	26234939	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatacggctgttgtttttttCtacatcgtagccagcagccg	10	10	1	0	rs2050949	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:26234939C>T	ENST00000244534.5	-	1	277	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	75	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.		E -> K (in dbSNP:rs2050949).		nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTGTTTTTTTCTACATCGTAG	0.532													C|||	439	0.0876597	0.0348	0.1037	5008	,	,		15763	0.2113		0.1004	False		,,,				2504	0.0072				p.E75K		Atlas-SNP	.											HIST1H1D,colon,carcinoma,+2,1	HIST1H1D	40	1	0			c.G223A						scavenged	.						71	80	77					6																	26234939		2203	4300	6503	SO:0001583	missense	3007	exon1			TTTTTTCTACATC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.223G>A	6.37:g.26234939C>T	ENSP00000244534:p.Glu75Lys	Somatic	201	1	0.00497512		WXS	Illumina HiSeq	Phase_I	195	10	0.0512821	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.269948	0.80469	.	.	ENSG00000124575	ENST00000244534	T	0.09255	3.0	5.23	5.23	0.72850	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.262738	0.43110	D	0.000603	T	0.17066	0.0410	L	0.54908	1.71	0.80722	D	1	B	0.29188	0.236	P	0.48304	0.573	T	0.02966	-1.1088	10	0.59425	D	0.04	-77.8298	18.1633	0.89717	0.0:1.0:0.0:0.0	rs2050949;rs2050949	75	P16402	H13_HUMAN	K	75	ENSP00000244534:E75K	ENSP00000244534:E75K	E	-	1	0	HIST1H1D	26342918	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	4.012000	0.57131	2.623000	0.88846	0.655000	0.94253	GAA	C|0.998;T|0.002	0.002	strong		0.532	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		T	26234939	C	T	26234939	3	4	31	1	0	0	0	0	1	0	0	0	7125	922	32	2	446	2	HIST1H1D	6	26234939	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	9907024	26234939	144880128	43	22696										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910335	29910335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tccccagacgccgaggatggCcgtcatggcgccccgaaccc	12	18	1	1	rs200058378		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:29910335C>T	ENST00000396634.1	+	3	346	c.5C>T	c.(4-6)gCc>gTc	p.A2V	HLA-A_ENST00000376809.5_Missense_Mutation_p.A2V|HLA-A_ENST00000376802.2_Missense_Mutation_p.A2V|HLA-A_ENST00000376806.5_Missense_Mutation_p.A2V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	2					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGAGGATGGCCGTCATGGCG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A2V		Atlas-SNP	.											HLA-A,NS,carcinoma,-1,1	HLA-A	89	1	0			c.C5T						scavenged	.						36	38	37					6																	29910335		2201	4296	6497	SO:0001583	missense	3105	exon1	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GGATGGCCGTCAT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.5C>T	6.37:g.29910335C>T	ENSP00000379873:p.Ala2Val	Somatic	89	1	0.011236		WXS	Illumina HiSeq	Phase_I	67	5	0.0746269	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	8.183	0.794292	0.16327	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00662	5.94;5.93;5.94;5.94	2.6	-4.04	0.04010	.	.	.	.	.	T	0.00552	0.0018	L	0.27053	0.805	0.09310	N	1	D;B;D;B	0.76494	0.999;0.003;0.997;0.001	D;B;D;B	0.75484	0.986;0.014;0.986;0.014	T	0.50065	-0.8871	9	0.56958	D	0.05	.	4.6272	0.12484	0.4071:0.1733:0.4196:0.0	.	2;2;2;2	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	V	2	ENSP00000379873:A2V;ENSP00000366002:A2V;ENSP00000366005:A2V;ENSP00000365998:A2V	ENSP00000348012:A2V	A	+	2	0	HLA-A	30018314	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.890000	0.01613	-0.952000	0.03649	-0.531000	0.04308	GCC	C|0.999;T|0.001	0.001	weak		0.672	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29910335	C	T	29910335	3	4	31	1	0	0	0	0	1	0	0	0	7195	739	26	2	7	2	HLA-A	6	29910335	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	3675396	29910335	141204732	44	22697										
LTB	4050	hgsc.bcm.edu	37	chr6	31548738	31548738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccccccgcccggtacagagaGctgcgcagcgtgaccgagcg	14	17	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:31548738G>A	ENST00000429299.2	-	4	490	c.483C>T	c.(481-483)agC>agT	p.S161S	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	161					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTACAGAGAGCTGCGCAGCG	0.746																																					p.S161S		Atlas-SNP	.											.	LTB	19	.	0			c.C483T						PASS	.						4	4	4					6																	31548738		1367	2501	3868	SO:0001819	synonymous_variant	4050	exon4			CAGAGAGCTGCGC	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.483C>T	6.37:g.31548738G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	51	4	0.0784314	NM_002341	P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	CCDS4703.1																																																																																			.	.	none		0.746	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			A	31548738	G	A	31548738	2	1	31	1	0	0	0	0	0	0	0	1	9070	962	34	2		2	LTB	6	31548738	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	1638403	31548738	139566329	45	22698										
DOPEY1	23033	hgsc.bcm.edu	37	chr6	83849764	83849764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccaccagatatgattcttacTcttttggaagggattacagc	8	9	2	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:83849764T>C	ENST00000349129.2	+	22	5426	c.5166T>C	c.(5164-5166)acT>acC	p.T1722T	DOPEY1_ENST00000369739.3_Silent_p.T1713T|DOPEY1_ENST00000237163.5_Silent_p.T1703T|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1722					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATTCTTACTCTTTTGGAAG	0.338																																					p.T1722T		Atlas-SNP	.											.	DOPEY1	190	.	0			c.T5166C						PASS	.						141	130	134					6																	83849764		2203	4300	6503	SO:0001819	synonymous_variant	23033	exon22			TCTTACTCTTTTG	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5166T>C	6.37:g.83849764T>C		Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	169	8	0.0473373	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																			.	.	none		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		C	83849764	T	C	83849764	2	2	31	1	0	0	0	0	0	0	0	1	4707	1538	54	3		3	DOPEY1	6	83849764	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	52301026	83849764	87265303	46	22699										
SMPDL3A	10924	hgsc.bcm.edu	37	chr6	123116916	123116916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gcttcatctaaaggtgcaaaTgcctccaaccctggcccttt	7	14	2	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr6:123116916T>C	ENST00000368440.4	+	2	384	c.207T>C	c.(205-207)aaT>aaC	p.N69N	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	69					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AAGGTGCAAATGCCTCCAACC	0.403																																					p.N69N		Atlas-SNP	.											.	SMPDL3A	31	.	0			c.T207C						PASS	.						167	149	155					6																	123116916		2203	4300	6503	SO:0001819	synonymous_variant	10924	exon2			TGCAAATGCCTCC	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.207T>C	6.37:g.123116916T>C		Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	242	10	0.0413223	NM_006714	B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	37	CCDS5128.1																																																																																			.	.	none		0.403	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		C	123116916	T	C	123116916	2	2	31	1	0	0	0	0	0	0	0	1	14808	1461	51	2		2	SMPDL3A	6	123116916	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	39267152	123116916	47998151	47	22700										
ZNF680	340252	hgsc.bcm.edu	37	chr7	63981682	63981682	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gtagggtttctctctagcatGaattctcttatgattagcaa	8	7	3	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr7:63981682G>T	ENST00000309683.6	-	4	1601	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	484					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)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTCTAGCATGAATTCTCTTA	0.368																																					p.H484N		Atlas-SNP	.											ZNF680,mucosal,malignant_melanoma,0,1	ZNF680	58	1	0			c.C1450A						scavenged	.						64	65	64					7																	63981682		2203	4300	6503	SO:0001583	missense	340252	exon4			TAGCATGAATTCT	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1450C>A	7.37:g.63981682G>T	ENSP00000309330:p.His484Asn	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	185	4	0.0216216	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.627846	0.46944	.	.	ENSG00000173041	ENST00000309683	T	0.26660	1.72	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50446	0.1616	M	0.90483	3.12	0.80722	D	1	D	0.58620	0.983	D	0.71656	0.974	T	0.51725	-0.8669	9	0.87932	D	0	.	5.9584	0.19286	0.0:0.0:1.0:0.0	.	484	Q8NEM1	ZN680_HUMAN	N	484	ENSP00000309330:H484N	ENSP00000309330:H484N	H	-	1	0	ZNF680	63619117	1.000000	0.71417	0.113000	0.21522	0.733000	0.41908	4.987000	0.63857	0.690000	0.31570	0.478000	0.44815	CAT	.	.	none		0.368	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		T	63981682	G	T	63981682	3	4	31	1	0	0	0	0	1	0	0	0	18084	1290	45	4	146	4	ZNF680	7	63981682	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10		63981682	95156981	48	22701										
PMPCB	9512	hgsc.bcm.edu	37	chr7	102937911	102937911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cttccttctagcagaaatggCggctgcggcggctcgagtgg	15	11	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr7:102937911C>T	ENST00000249269.4	+	1	43	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.A2V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	2					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGAAATGGCGGCTGCGGCG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2V		Atlas-SNP	.											.	PMPCB	35	.	0			c.C5T						PASS	.						31	38	35					7																	102937911		2203	4300	6503	SO:0001583	missense	9512	exon1			AAATGGCGGCTGC	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.5C>T	7.37:g.102937911C>T	ENSP00000249269:p.Ala2Val	Somatic	93	0	0	1370	WXS	Illumina HiSeq	Phase_I	95	9	0.0947368	NM_004279	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	.	14.40	2.525458	0.44969	.	.	ENSG00000105819	ENST00000249269;ENST00000428154	T;T	0.13196	2.64;2.61	5.07	4.19	0.49359	.	0.385387	0.27577	N	0.018746	T	0.07503	0.0189	N	0.08118	0	0.80722	D	1	B;B;B	0.30146	0.176;0.176;0.27	B;B;B	0.28991	0.018;0.027;0.097	T	0.24657	-1.0154	10	0.87932	D	0	.	9.924	0.41481	0.0:0.9072:0.0:0.0928	.	2;2;2	B3KM34;O75439;G3V0E4	.;MPPB_HUMAN;.	V	2	ENSP00000249269:A2V;ENSP00000390035:A2V	ENSP00000249269:A2V	A	+	2	0	PMPCB	102725147	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	1.682000	0.37628	1.512000	0.48834	0.650000	0.86243	GCG	.	.	none		0.652	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		T	102937911	C	T	102937911	3	4	31	1	0	0	0	0	1	0	0	0	12141	768	27	1	7	1	PMPCB	7	102937911	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	38956229	102937911	56200752	49	22702										
BCAP29	55973	hgsc.bcm.edu	37	chr7	107236323	107236323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttttcttagagttttgagacGtctggttacgcttattactc	8	7	2	2	rs115169101		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr7:107236323G>A	ENST00000005259.4	+	5	695	c.356G>A	c.(355-357)cGt>cAt	p.R119H	BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_Missense_Mutation_p.R25H|BCAP29_ENST00000445771.2_Missense_Mutation_p.R119H|BCAP29_ENST00000379121.2_Missense_Mutation_p.R25H|BCAP29_ENST00000379117.2_Missense_Mutation_p.R119H|BCAP29_ENST00000379119.2_Missense_Mutation_p.R119H	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	119					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						GTTTTGAGACGTCTGGTTACG	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15250	0.0		0.0	False		,,,				2504	0.0				p.R119H		Atlas-SNP	.											BCAP29,colon,carcinoma,+1,1	BCAP29	46	1	0			c.G356A						PASS	.	G	HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	112	108	109		356,356	4.6	1	7	dbSNP_132	109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAP29	NM_001008405.2,NM_018844.3	29,29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	119/349,119/242	107236323	2,13002	2202	4300	6502	SO:0001583	missense	55973	exon5			TGAGACGTCTGGT		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.356G>A	7.37:g.107236323G>A	ENSP00000005259:p.Arg119His	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	202	10	0.049505	NM_018844	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323123	0.81580	2.27E-4	1.16E-4	ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.	.	.	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87335	0.2327	9	0.87932	D	0	0.1468	13.3198	0.60426	0.0778:0.0:0.9222:0.0	.	119;119;119	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	H	119;25;119;119;119;119;119;119;76;25	.	ENSP00000005259:R119H	R	+	2	0	BCAP29	107023559	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.256000	0.72473	1.444000	0.47605	0.650000	0.86243	CGT	G|1.000;A|0.000	0.000	strong		0.338	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		A	107236323	G	A	107236323	3	1	31	1	0	0	0	0	1	0	0	0	1346	1145	40	1	370	1	BCAP29	7	107236323	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	4298412	107236323	51902340	50	22703										
IRF5	3663	hgsc.bcm.edu	37	chr7	128587381	128587381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccgcccactctgcggccgccTactctgcagccgcccactct	8	22	3	0	rs199508964|rs79724471|rs60344245	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr7:128587381T>C	ENST00000402030.2	+	6	603	c.531T>C	c.(529-531)ccT>ccC	p.P177P	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000473745.1_Silent_p.P177P|IRF5_ENST00000357234.5_Silent_p.P193P|IRF5_ENST00000249375.4_Silent_p.P177P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	177					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCGGCCGCCTACTCTGCAGC	0.657																																					p.P193P		Atlas-SNP	.											.	IRF5	40	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.T579C						PASS	.	T	,,,,	881,2925		144,593,1166	5	7	6		531,579,531,,531		0.1	7	dbSNP_131	6	1628,6000		358,912,2544	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	,,,,	502,1505,3710	CC,CT,TT		21.3424,23.1477,21.9433	,,,,	177/499,193/515,177/499,,177/499	128587381	2509,8925	1903	3814	5717	SO:0001819	synonymous_variant	3663	exon6			GCCGCCTACTCTG		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.531T>C	7.37:g.128587381T>C		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	70	14	0.2	NM_001098629	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	CCDS5808.1	740	0.33882783882783885	191	0.3882113821138211	85	0.23480662983425415	170	0.2972027972027972	294	0.38786279683377306	T	2.949	-0.217149	0.06101	0.231477	0.213424	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.44667	-0.9313	1	.	.	.	.	.	.	.	.	166	E9PC81	.	P	166	.	.	L	+	2	0	IRF5	128374617	0.027000	0.19231	0.110000	0.21437	0.055000	0.15305	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	CTA	T|0.661;C|0.339	0.339	strong		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		C	128587381	T	C	128587381	2	2	31	1	0	0	0	0	0	0	0	1	7833	1509	53	3		3	IRF5	7	128587381	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	21351058	128587381	30551282	51	22704										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	7	7	3	1	rs200377849		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTTATGAAATTTCTAAGTG	0.388																																					p.N257K		Atlas-SNP	.											PCMTD1,trunk,malignant_melanoma,0,1	PCMTD1	73	1	1	Substitution - Missense(1)	skin(1)	c.T771G						scavenged	.						78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294	exon6			TATGAAATTTCTA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys	Somatic	247	3	0.0121457		WXS	Illumina HiSeq	Phase_I	231	4	0.017316	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT	.	.	weak		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	31	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10		52733214	93630808	52	22705										
RNF19A	25897	hgsc.bcm.edu	37	chr8	101276899	101276899	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	acttttcagcattttcttacCtacagtcactgcagctacta	4	12	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr8:101276899C>T	ENST00000519449.1	-	7	1622	c.1306G>A	c.(1306-1308)Ggt>Agt	p.G436S	RNF19A_ENST00000341084.2_Splice_Site_p.G436S|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	436					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTTTCTTACCTACAGTCACT	0.353																																					p.G436S		Atlas-SNP	.											.	RNF19A	67	.	0			c.G1306A						PASS	.						175	155	162					8																	101276899		2203	4300	6503	SO:0001630	splice_region_variant	25897	exon7			TCTTACCTACAGT	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1306+1G>A	8.37:g.101276899C>T		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	108	8	0.0740741	NM_015435	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552861	0.96501	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.86097	-2.07;-2.07	5.41	5.41	0.78517	.	0.046563	0.85682	D	0.000000	D	0.91112	0.7202	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89895	0.4040	9	.	.	.	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	436	Q9NV58	RN19A_HUMAN	S	436	ENSP00000428968:G436S;ENSP00000342667:G436S	.	G	-	1	0	RNF19A	101346075	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.699000	0.92147	0.650000	0.86243	GGT	.	.	none		0.353	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	Missense_Mutation	T	101276899	C	T	101276899	5	4	31	1	0	0	0	0	0	0	1	0	13470	695	24	2	1230	2	RNF19A	8	101276899	Splice_Site	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	48543685	101276899	45087123	53	22706										
ZFPM2	23414	hgsc.bcm.edu	37	chr8	106813894	106813894	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gaactggtgcatcggcgactGaggcatggcagtagtagcta	15	8	0	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr8:106813894G>T	ENST00000407775.2	+	8	1834	c.1584G>T	c.(1582-1584)ctG>ctT	p.L528L	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.L396L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L396L|ZFPM2_ENST00000378472.4_Silent_p.L259L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	528					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)			ATCGGCGACTGAGGCATGGCA	0.463																																					p.L528L		Atlas-SNP	.											ZFPM2,NS,carcinoma,+2,1	ZFPM2	219	1	0			c.G1584T						scavenged	.						91	93	93					8																	106813894		1940	4129	6069	SO:0001819	synonymous_variant	23414	exon8			GCGACTGAGGCAT	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.1584G>T	8.37:g.106813894G>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	78	3	0.0384615	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			.	.	none		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106813894	G	T	106813894	2	4	31	1	0	0	0	0	0	0	0	1	17655	1277	45	4		4	ZFPM2	8	106813894	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	5536995	106813894	39550128	54	22707										
MYC	4609	hgsc.bcm.edu	37	chr8	128751013	128751013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cgaaccccgcccgcggccacAgcgtctgctccacctccagc	9	22	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr8:128751013A>T	ENST00000259523.6	+	2	1710	c.505A>T	c.(505-507)Agc>Tgc	p.S169C	MYC_ENST00000377970.2_Missense_Mutation_p.S184C|MYC_ENST00000524013.1_Missense_Mutation_p.S183C			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	169					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCGCGGCCACAGCGTCTGCTC	0.677		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S184C		Atlas-SNP	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	.	MYC	168	.	0			c.A550T						PASS	.						20	22	21					8																	128751013		2203	4298	6501	SO:0001583	missense	4609	exon2			GGCCACAGCGTCT		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.505A>T	8.37:g.128751013A>T	ENSP00000259523:p.Ser169Cys	Somatic	56	0	0	1567	WXS	Illumina HiSeq	Phase_I	53	4	0.0754717	NM_002467	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.	.	.	.	.	.	.	.	.	.	A	15.75	2.926604	0.52759	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.25749	2.14;1.78;2.14;2.14	4.78	-3.13	0.05266	Transcription regulator Myc, N-terminal (1);	0.630931	0.16999	N	0.190997	T	0.28234	0.0697	L	0.52573	1.65	0.21020	N	0.99981	P	0.50156	0.932	P	0.55455	0.776	T	0.12863	-1.0531	10	0.62326	D	0.03	-9.1089	3.8255	0.08852	0.5346:0.1046:0.2554:0.1053	.	169	P01106	MYC_HUMAN	C	169;183;184;183;150	ENSP00000259523:S169C;ENSP00000429441:S183C;ENSP00000367207:S184C;ENSP00000430235:S183C	ENSP00000259523:S169C	S	+	1	0	MYC	128820195	0.000000	0.05858	0.819000	0.32651	0.693000	0.40251	-0.773000	0.04689	-0.571000	0.06014	0.459000	0.35465	AGC	.	.	none		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			T	128751013	A	T	128751013	3	4	31	1	0	0	0	0	1	0	0	0	10016	188	7	5	556	5	MYC	8	128751013	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	21937119	128751013	17613009	55	22708										
UNC13B	10497	hgsc.bcm.edu	37	chr9	35399645	35399645	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gctgctgatttctctgaacaGgatcacatggtacgagagga	12	8	2	3			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr9:35399645G>T	ENST00000378495.3	+	35	4230		c.e35-1		UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCTGAACAGGATCACATGG	0.532																																					.		Atlas-SNP	.											.	UNC13B	153	.	0			c.4009-1G>T						PASS	.						249	228	235					9																	35399645		2203	4300	6503	SO:0001630	splice_region_variant	10497	exon35			TGAACAGGATCAC	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4009-1G>T	9.37:g.35399645G>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	61	6	0.0983607	NM_006377	Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611073	0.87258	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4471	0.94852	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35389645	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.267000	0.95665	2.824000	0.97209	0.655000	0.94253	.	.	.	none		0.532	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	T	35399645	G	T	35399645	5	4	31	1	0	0	0	0	0	0	1	0	16982	1014	35	4	4146	4	UNC13B	9	35399645	Splice_Site	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10		35399645	105813786	56	22709										
FAM120A	23196	hgsc.bcm.edu	37	chr9	96318697	96318697	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	atccccgaggaattcagctaTcagctctcttcatgagtgga	9	11	4	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr9:96318697T>G	ENST00000277165.6	+	13	2502	c.2308T>G	c.(2308-2310)Tca>Gca	p.S770A	FAM120A_ENST00000333936.5_Missense_Mutation_p.S798A|FAM120A_ENST00000340893.4_Missense_Mutation_p.S770A	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	770						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTCAGCTATCAGCTCTCTT	0.393																																					p.S770A		Atlas-SNP	.											.	FAM120A	105	.	0			c.T2308G						PASS	.						135	138	137					9																	96318697		2203	4300	6503	SO:0001583	missense	23196	exon13			CAGCTATCAGCTC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2308T>G	9.37:g.96318697T>G	ENSP00000277165:p.Ser770Ala	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	171	15	0.0877193	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643701	0.29246	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000010	T	0.12860	0.0312	N	0.00661	-1.28	0.40403	D	0.979668	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.13407	0.004;0.007;0.009	T	0.27971	-1.0058	10	0.02654	T	1	-11.3047	11.8715	0.52523	0.0:0.0:0.1456:0.8543	.	770;798;770	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	A	770;798;770;192	ENSP00000277165:S770A;ENSP00000334918:S798A;ENSP00000344698:S770A;ENSP00000412440:S192A	ENSP00000277165:S770A	S	+	1	0	FAM120A	95358518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.176000	0.65026	2.172000	0.68678	0.533000	0.62120	TCA	.	.	none		0.393	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		G	96318697	T	G	96318697	3	3	31	1	0	0	0	0	1	0	0	0	5415	1435	50	5	2358	5	FAM120A	9	96318697	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	60919052	96318697	44894734	57	22710										
FBP2	8789	hgsc.bcm.edu	37	chr9	97346890	97346890	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tggcaaagatggttccgatgGaggccaggcagtcaatattg	14	7	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr9:97346890G>C	ENST00000375337.3	-	3	461	c.395C>G	c.(394-396)tCc>tGc	p.S132C		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	132					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTTCCGATGGAGGCCAGGCA	0.483																																					p.S132C		Atlas-SNP	.											.	FBP2	26	.	0			c.C395G						PASS	.						150	122	132					9																	97346890		2203	4300	6503	SO:0001583	missense	8789	exon3			CCGATGGAGGCCA	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.395C>G	9.37:g.97346890G>C	ENSP00000364486:p.Ser132Cys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	78	8	0.102564	NM_003837	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555699	0.86231	.	.	ENSG00000130957	ENST00000375337	T	0.79454	-1.27	4.87	4.87	0.63330	.	0.169189	0.53938	D	0.000045	D	0.89543	0.6745	M	0.88640	2.97	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	D	0.91770	0.5427	10	0.87932	D	0	-19.1055	18.3657	0.90390	0.0:0.0:1.0:0.0	.	132	O00757	F16P2_HUMAN	C	132	ENSP00000364486:S132C	ENSP00000364486:S132C	S	-	2	0	FBP2	96386711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.542000	0.98086	2.397000	0.81536	0.655000	0.94253	TCC	.	.	none		0.483	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		C	97346890	G	C	97346890	3	2	31	1	0	0	0	0	1	0	0	0	5706	1174	41	4	644	4	FBP2	9	97346890	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	1028193	97346890	43866541	58	22711										
PPP3R2	116443	hgsc.bcm.edu	37	chr9	104356771	104356771	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctcaaaggatatcttcccatCgccatccttgtccaggatga	7	13	2	1	rs140969417		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr9:104356771C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D148N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D148N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATCTTCCCATCGCCATCCTTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19615	0.0		0.001	False		,,,				2504	0.0				p.D148N		Atlas-SNP	.											PPP3R2,caecum,carcinoma,+2,2	PPP3R2	38	2	1	Substitution - Missense(1)	skin(1)	c.G442A						scavenged	.						127	108	114					9																	104356771		2203	4300	6503	SO:0001627	intron_variant	5535	exon1			TCCCATCGCCATC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15129G>A	9.37:g.104356771C>T		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	126	4	0.031746	NM_147180	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.6	4.751382	0.89753	.	.	ENSG00000188386	ENST00000374806	T	0.79352	-1.26	4.15	4.15	0.48705	EF-hand-like domain (1);	0.000000	0.43579	D	0.000545	D	0.85687	0.5754	M	0.64997	1.995	0.46260	D	0.998958	D	0.89917	1.0	D	0.85130	0.997	D	0.87008	0.2121	10	0.87932	D	0	-22.173	14.7505	0.69522	0.0:1.0:0.0:0.0	.	145	Q96LZ3	CANB2_HUMAN	N	148	ENSP00000363939:D148N	ENSP00000363939:D148N	D	-	1	0	PPP3R2	103396592	1.000000	0.71417	0.044000	0.18714	0.925000	0.55904	7.410000	0.80065	2.610000	0.88304	0.563000	0.77884	GAT	C|1.000;T|0.000	0.000	strong		0.517	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104356771	C	T	104356771	1	4	31	0	1	0	0	0	0	0	0	0	12401	884	31	1		1	PPP3R2	9	104356771	Intron	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	7009881	104356771	36856660	59	22712										
GRIN3A	116443	hgsc.bcm.edu	37	chr9	104449271	104449271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggaagctcaagaggtcctggGtggaggggaggttagcggtg	21	5	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr9:104449271G>A	ENST00000361820.3	-	2	1511	c.911C>T	c.(910-912)aCc>aTc	p.T304I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	304					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GAGGTCCTGGGTGGAGGGGAG	0.507																																					p.T304I		Atlas-SNP	.											.	GRIN3A	186	.	0			c.C911T						PASS	.						125	114	118					9																	104449271		2203	4300	6503	SO:0001583	missense	116443	exon2			TCCTGGGTGGAGG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.911C>T	9.37:g.104449271G>A	ENSP00000355155:p.Thr304Ile	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	172	12	0.0697674	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220762	0.22457	.	.	ENSG00000198785	ENST00000361820	D	0.86562	-2.14	5.82	3.79	0.43588	.	0.741427	0.13472	N	0.385327	T	0.81158	0.4764	L	0.36672	1.1	0.37462	D	0.915272	B	0.14012	0.009	B	0.10450	0.005	T	0.76830	-0.2814	10	0.34782	T	0.22	.	12.3574	0.55184	0.0:0.242:0.6501:0.108	.	304	Q8TCU5	NMD3A_HUMAN	I	304	ENSP00000355155:T304I	ENSP00000355155:T304I	T	-	2	0	GRIN3A	103489092	0.033000	0.19621	0.999000	0.59377	0.882000	0.50991	0.538000	0.23160	2.759000	0.94783	0.557000	0.71058	ACC	.	.	none		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104449271	G	A	104449271	3	1	31	1	0	0	0	0	1	0	0	0	6783	1261	44	2	2468	2	GRIN3A	9	104449271	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	92500	104449271	36764160	60	22713										
AGAP6	414189	hgsc.bcm.edu	37	chr10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	actattcctcctccattccaTcgactcccagcaccagccag	4	19	0	0	rs368970869		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr10:51768543T>C	ENST00000374056.4	+	7	987	c.589T>C	c.(589-591)Tcg>Ccg	p.S197P	AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	197					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S220P(3)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTCCATTCCATCGACTCCCAG	0.532																																					p.S220P		Atlas-SNP	.											AGAP6,NS,carcinoma,0,3	AGAP6	53	3	3	Substitution - Missense(3)	endometrium(2)|NS(1)	c.T658C						scavenged	.																																			SO:0001583	missense	414189	exon8			ATTCCATCGACTC		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.589T>C	10.37:g.51768543T>C	ENSP00000363168:p.Ser197Pro	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	116	3	0.0258621	NM_001077665		Missense_Mutation	SNP	ENST00000374056.4	37		.	.	.	.	.	.	.	.	.	.	.	7.332	0.619129	0.14129	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	T	0.56776	0.44	0.0465	0.0465	0.14256	.	0.149774	0.46145	D	0.000318	T	0.42314	0.1197	M	0.65498	2.005	0.37828	D	0.92861	B	0.14012	0.009	B	0.13407	0.009	T	0.20140	-1.0284	10	0.31617	T	0.26	.	4.565	0.12180	0.0:6.0E-4:0.0:0.9994	.	220	C9IYN2	.	P	220;197	ENSP00000400972:S197P	ENSP00000363168:S220P	S	+	1	0	AGAP6	51438549	1.000000	0.71417	0.059000	0.19551	0.060000	0.15804	3.691000	0.54720	0.115000	0.18071	0.113000	0.15668	TCG	T|0.500;C|0.500	0.500	weak		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		C	51768543	T	C	51768543	3	2	31	1	0	0	0	0	1	0	0	0	372	1435	50	2	688	2	AGAP6	10	51768543	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		51768543	83766204	61	22714										
FAM13C	220965	hgsc.bcm.edu	37	chr10	61022354	61022354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gctcacacaacaggtttctaGgtggacctttgggagcactc	11	11	2	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr10:61022354G>A	ENST00000373868.2	-	10	1163	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	FAM13C_ENST00000422313.2_Missense_Mutation_p.P359L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P380L|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Missense_Mutation_p.P276L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P276L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P380L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P359L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	359								p.P359R(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGTTTCTAGGTGGACCTTT	0.493																																					p.P359L		Atlas-SNP	.											FAM13C_ENST00000422313,NS,carcinoma,0,2	FAM13C	124	2	1	Substitution - Missense(1)	lung(1)	c.C1076T						PASS	.						89	89	89					10																	61022354		2203	4300	6503	SO:0001583	missense	220965	exon10			TTTCTAGGTGGAC	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1076C>T	10.37:g.61022354G>A	ENSP00000362975:p.Pro359Leu	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	159	10	0.0628931	NM_198215	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930800	0.18131	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.72	1.65	0.23941	.	0.704485	0.13552	N	0.379439	T	0.61035	0.2315	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.11235	0.003;0.001;0.004;0.001	B;B;B;B	0.14023	0.004;0.006;0.01;0.003	T	0.52719	-0.8538	10	0.48119	T	0.1	-0.0153	1.2001	0.01883	0.162:0.2361:0.3334:0.2684	.	359;276;359;359	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	L	276;359;380;380;276;359;359	ENSP00000362974:P276L;ENSP00000362975:P359L;ENSP00000395661:P380L;ENSP00000277705:P380L;ENSP00000423896:P276L;ENSP00000392302:P359L;ENSP00000400241:P359L	ENSP00000277705:P380L	P	-	2	0	FAM13C	60692360	0.287000	0.24315	0.110000	0.21437	0.648000	0.38561	0.848000	0.27710	0.306000	0.22856	0.563000	0.77884	CCT	.	.	none		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			A	61022354	G	A	61022354	3	1	31	1	0	0	0	0	1	0	0	0	5454	1000	35	2	701	2	FAM13C	10	61022354	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	9253811	61022354	74512393	62	22715										
TET1	80312	hgsc.bcm.edu	37	chr10	70405864	70405864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aagggcacaatacaacagaaAccaccttcaagtgtacacaa	6	11	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr10:70405864A>G	ENST00000373644.4	+	4	3587	c.3378A>G	c.(3376-3378)aaA>aaG	p.K1126K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1126					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACAACAGAAACCACCTTCAA	0.388																																					p.K1126K		Atlas-SNP	.											.	TET1	255	.	0			c.A3378G						PASS	.						89	77	81					10																	70405864		2203	4300	6503	SO:0001819	synonymous_variant	80312	exon4			ACAGAAACCACCT	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3378A>G	10.37:g.70405864A>G		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	121	14	0.115702	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																			.	.	none		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70405864	A	G	70405864	2	3	31	1	0	0	0	0	0	0	0	1	15766	40	2	2		2	TET1	10	70405864	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	9383510	70405864	65128883	63	22716										
SH3PXD2A	9644	hgsc.bcm.edu	37	chr10	105362350	105362350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aacctcacataccaccacccGctctcctgcttctccagcac	3	21	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr10:105362350G>A	ENST00000369774.4	-	15	2901	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	SH3PXD2A_ENST00000538130.1_Silent_p.S710S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000540321.1_Silent_p.S742S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	875	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617																																					p.S847S		Atlas-SNP	.											.	SH3PXD2A	90	.	0			c.C2541T						PASS	.						50	51	51					10																	105362350		2203	4300	6503	SO:0001819	synonymous_variant	9644	exon14			CCACCCGCTCTCC	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2625C>T	10.37:g.105362350G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	104	5	0.0480769	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914168	0.02415	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.59	-2.81	0.05805	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55976	-0.8055	4	.	.	.	-16.5179	11.8174	0.52218	0.728:0.0:0.272:0.0	.	.	.	.	W	802	.	.	R	-	1	2	SH3PXD2A	105352340	0.038000	0.19896	0.854000	0.33618	0.429000	0.31625	-0.502000	0.06390	-0.468000	0.06922	-0.258000	0.10820	CGG	.	.	none		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		A	105362350	G	A	105362350	2	1	31	1	0	0	0	0	0	0	0	1	14256	1078	38	1		1	SH3PXD2A	10	105362350	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	34956486	105362350	30172397	64	22717										
MUC6	4588	hgsc.bcm.edu	37	chr11	1018511	1018511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatggggttggataggtagtGgtggcatggaaagatgttgc	19	2	0	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:1018511G>A	ENST00000421673.2	-	31	4340	c.4290C>T	c.(4288-4290)acC>acT	p.T1430T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1430	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATAGGTAGTGGTGGCATGGA	0.572																																					p.T1430T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	0			c.C4290T						scavenged	.						295	292	293					11																	1018511		2173	4264	6437	SO:0001819	synonymous_variant	4588	exon31			GGTAGTGGTGGCA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4290C>T	11.37:g.1018511G>A		Somatic	378	1	0.0026455		WXS	Illumina HiSeq	Phase_I	335	5	0.0149254	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018511	G	A	1018511	2	1	31	1	0	0	0	0	0	0	0	1	9980	1335	47	2		2	MUC6	11	1018511	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10		1018511	133988005	65	22718										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1258241	1258241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cggtccgtggtgggggacgcActggagtttgggaacagctg	19	8	0	0	rs79773885		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:1258241A>G	ENST00000529681.1	+	25	3202	c.3144A>G	c.(3142-3144)gcA>gcG	p.A1048A	MUC5B_ENST00000447027.1_Silent_p.A1051A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGGACGCACTGGAGTTTG	0.672																																					p.A1048A		Atlas-SNP	.											MUC5B,NS,carcinoma,+2,2	MUC5B	473	2	0			c.A3144G						scavenged	.						39	55	50					11																	1258241		2117	4226	6343	SO:0001819	synonymous_variant	727897	exon25			GGACGCACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3144A>G	11.37:g.1258241A>G		Somatic	43	5	0.116279		WXS	Illumina HiSeq	Phase_I	38	5	0.131579	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.500;G|0.500	0.500	weak		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1258241	A	G	1258241	2	3	31	1	0	0	0	0	0	0	0	1	9979	146	6	2		2	MUC5B	11	1258241	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	239730	1258241	133748275	66	22719										
RBMXL2	27288	hgsc.bcm.edu	37	chr11	7110751	7110751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccgatgatgacggcggctacAcggcggatttcgacctgcgg	15	12	0	2	rs11041171	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:7110751A>G	ENST00000306904.5	+	1	587	c.400A>G	c.(400-402)Acg>Gcg	p.T134A		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	134	Arg/Gly/Pro-rich.		T -> A (in dbSNP:rs11041171). {ECO:0000269|PubMed:10958650, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCGGCTACACGGCGGATTT	0.786													G|||	4837	0.965855	0.8744	0.9928	5008	,	,		3958	1.0		1.0	False		,,,				2504	1.0				p.T134A		Atlas-SNP	.											.	RBMXL2	47	.	0			c.A400G						PASS	.						1	1	1					11																	7110751		553	1369	1922	SO:0001583	missense	27288	exon1			GGCTACACGGCGG	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.400A>G	11.37:g.7110751A>G	ENSP00000304139:p.Thr134Ala	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_014469	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	CCDS7777.1	2013	0.9217032967032966	395	0.8028455284552846	339	0.93646408839779	560	0.9790209790209791	719	0.9485488126649076	G	0.046	-1.264680	0.01433	.	.	ENSG00000170748	ENST00000306904	T	0.75050	-0.9	2.1	-2.91	0.05631	.	0.996198	0.08132	N	0.993048	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	9	0.14252	T	0.57	.	1.3858	0.02240	0.2169:0.2957:0.3372:0.1502	rs11041171;rs17857473	134	O75526	HNRGT_HUMAN	A	134	ENSP00000304139:T134A	ENSP00000304139:T134A	T	+	1	0	RBMXL2	7067327	0.014000	0.17966	0.000000	0.03702	0.013000	0.08279	-1.159000	0.03150	-1.383000	0.02106	-2.179000	0.00317	ACG	A|0.078;G|0.922	0.922	strong		0.786	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		G	7110751	A	G	7110751	3	3	31	1	0	0	0	0	1	0	0	0	13154	159	6	2	402	2	RBMXL2	11	7110751	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	5852510	7110751	127895765	67	22720										
OR4C3	256144	hgsc.bcm.edu	37	chr11	48346855	48346855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	agaaccatctcttatgagtgCtgcatggctcagctctttgg	10	10	3	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:48346855C>T	ENST00000319856.4	+	1	384	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	94						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTTATGAGTGCTGCATGGCTC	0.458																																					p.C121C		Atlas-SNP	.											OR4C3,NS,carcinoma,0,1	OR4C3	75	1	0			c.C363T						scavenged	.						264	251	256					11																	48346855		2201	4298	6499	SO:0001819	synonymous_variant	256144	exon1			TGAGTGCTGCATG	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.363C>T	11.37:g.48346855C>T		Somatic	330	1	0.0030303		WXS	Illumina HiSeq	Phase_I	349	7	0.0200573	NM_001004702	B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	CCDS31489.1																																																																																			.	.	none		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		T	48346855	C	T	48346855	2	4	31	1	0	0	0	0	0	0	0	1	11050	805	28	2		2	OR4C3	11	48346855	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	41236104	48346855	86659661	68	22721										
OR4C13	283092	hgsc.bcm.edu	37	chr11	49974680	49974680	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aggcaaggcacgaagccctcTctacctgtgtctcccacatc	8	16	2	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:49974680T>A	ENST00000555099.1	+	1	738	c.706T>A	c.(706-708)Tct>Act	p.S236T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CGAAGCCCTCTCTACCTGTGT	0.463																																					p.S236T		Atlas-SNP	.											.	OR4C13	96	.	0			c.T706A						PASS	.						181	155	164					11																	49974680		2201	4296	6497	SO:0001583	missense	283092	exon1			GCCCTCTCTACCT	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.706T>A	11.37:g.49974680T>A	ENSP00000452277:p.Ser236Thr	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	185	9	0.0486486	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.238	1.037466	0.19669	.	.	ENSG00000258817	ENST00000555099	T	0.00295	8.25	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000319	T	0.00695	0.0023	M	0.88031	2.925	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25222	-1.0138	9	.	.	.	.	9.2733	0.37684	0.0:0.0:0.0:1.0	.	236	Q8NGP0	OR4CD_HUMAN	T	236	ENSP00000452277:S236T	.	S	+	1	0	OR4C13	49931256	0.000000	0.05858	0.955000	0.39395	0.029000	0.11900	0.475000	0.22164	1.342000	0.45619	0.156000	0.16432	TCT	.	.	none		0.463	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		A	49974680	T	A	49974680	3	1	31	1	0	0	0	0	1	0	0	0	11047	1551	54	5	708	5	OR4C13	11	49974680	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	1627825	49974680	85031836	69	22722										
TRIM48	79097	hgsc.bcm.edu	37	chr11	55032609	55032609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gaagaagatggcttcccttgCcagaaaagccagtctctggc	11	11	1	3	rs146290222	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:55032609C>T	ENST00000417545.2	+	2	364	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	77						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTTCCCTTGCCAGAAAAGCC	0.448													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17310	0.0		0.001	False		,,,				2504	0.0				p.A93V		Atlas-SNP	.											TRIM48_ENST00000417545,NS,carcinoma,0,2	TRIM48	149	2	0			c.C278T						scavenged	.	C	VAL/ALA	1,4377	2.1+/-5.4	0,1,2188	117	113	114		278	0.6	0.2	11	dbSNP_134	114	25,8489	17.9+/-57.8	3,19,4235	no	missense	TRIM48	NM_024114.3	64	3,20,6423	TT,TC,CC		0.2936,0.0228,0.2017	benign	93/225	55032609	26,12866	2189	4257	6446	SO:0001583	missense	79097	exon2			CCCTTGCCAGAAA	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.278C>T	11.37:g.55032609C>T	ENSP00000402414:p.Ala93Val	Somatic	613	2	0.00326264		WXS	Illumina HiSeq	Phase_I	467	5	0.0107066	NM_024114	Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	14.30	2.494114	0.44352	2.28E-4	0.002936	ENSG00000150244	ENST00000417545	D	0.83335	-1.71	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.71762	0.3378	L	0.33137	0.985	0.19575	N	0.999961	B	0.27656	0.184	B	0.27608	0.081	T	0.59941	-0.7359	9	0.38643	T	0.18	.	7.1377	0.25537	0.0:0.9999:0.0:1.0E-4	.	77	Q8IWZ4	TRI48_HUMAN	V	93	ENSP00000402414:A93V	ENSP00000402414:A93V	A	+	2	0	TRIM48	54789185	0.000000	0.05858	0.165000	0.22776	0.335000	0.28730	-0.841000	0.04359	0.629000	0.30376	0.413000	0.27773	GCC	C|0.997;T|0.003	0.003	strong		0.448	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			T	55032609	C	T	55032609	3	4	31	1	0	0	0	0	1	0	0	0	16520	739	26	2	284	2	TRIM48	11	55032609	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	5057929	55032609	79973907	70	22723										
OR4D10	390197	hgsc.bcm.edu	37	chr11	59244978	59244978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	agaatcgggaagtgagcttaGtcttatttcttttcctactc	8	8	2	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr11:59244978G>C	ENST00000530162.1	+	1	133	c.76G>C	c.(76-78)Gtc>Ctc	p.V26L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGAGCTTAGTCTTATTTCT	0.433																																					p.V26L		Atlas-SNP	.											.	OR4D10	120	.	0			c.G76C						PASS	.						107	110	109					11																	59244978		2053	4220	6273	SO:0001583	missense	390197	exon1			AGCTTAGTCTTAT	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.76G>C	11.37:g.59244978G>C	ENSP00000436424:p.Val26Leu	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	175	17	0.0971429	NM_001004705	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	2.795	-0.250377	0.05867	.	.	ENSG00000254466	ENST00000530162	T	0.00063	8.78	4.2	-8.41	0.00961	.	.	.	.	.	T	0.00073	0.0002	N	0.02286	-0.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18967	-1.0320	9	0.33940	T	0.23	.	8.643	0.33989	0.0831:0.1004:0.6209:0.1956	.	26	Q8NGI6	OR4DA_HUMAN	L	26	ENSP00000436424:V26L	ENSP00000436424:V26L	V	+	1	0	OR4D10	59001554	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.203000	0.00076	-1.731000	0.01360	-1.107000	0.02091	GTC	.	.	none		0.433	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		C	59244978	G	C	59244978	3	2	31	1	0	0	0	0	1	0	0	0	11054	1029	36	4	78	4	OR4D10	11	59244978	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	4212369	59244978	75761538	71	22724										
CACNA1C	775	hgsc.bcm.edu	37	chr12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgacgaaaatcggcaactgaCgctcccagaggaggacaaga	12	10	0	4	rs201777030		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C-AS1_ENST00000501371.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																					p.T1953M		Atlas-SNP	.											Q6YL47_HUMAN,trunk,malignant_melanoma,0,3	CACNA1C	1023	3	3	Substitution - Missense(3)	skin(3)	c.C5858T						scavenged	.						49	49	49					12																	2794937		2012	4159	6171	SO:0001583	missense	775	exon47			AACTGACGCTCCC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met	Somatic	62	5	0.0806452		WXS	Illumina HiSeq	Phase_I	53	6	0.113208	NM_199460	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG	.	.	weak		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2794937	C	T	2794937	3	4	31	1	0	0	0	0	1	0	0	0	2540	536	19	1	6492	1	CACNA1C	12	2794937	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		2794937	131056958	72	22725										
PRB4	5545	hgsc.bcm.edu	37	chr12	11461566	11461566	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggtggtctttctggctttccTggaggaggtggggtaccttg	17	7	2	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:11461566T>C	ENST00000535904.1	-	3	384	c.351A>G	c.(349-351)ccA>ccG	p.P117P	PRB4_ENST00000279575.1_Silent_p.P117P|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	138	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGCTTTCCTGGAGGAGGTG	0.602										HNSCC(22;0.051)																											p.P117P		Atlas-SNP	.											PRB4,caecum,carcinoma,-1,2	PRB4	59	2	0			c.A351G						scavenged	.						146	162	157					12																	11461566		2203	4300	6503	SO:0001819	synonymous_variant	5545	exon3			CTTTCCTGGAGGA		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.351A>G	12.37:g.11461566T>C		Somatic	235	2	0.00851064		WXS	Illumina HiSeq	Phase_I	190	4	0.0210526	NM_002723	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	CCDS8641.1																																																																																			.	.	none		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		C	11461566	T	C	11461566	2	2	31	1	0	0	0	0	0	0	0	1	12445	1567	55	3		3	PRB4	12	11461566	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	8666629	11461566	122390329	73	22726										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546314	11546314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctggaggagatcgggcacttTgggacttgttgtctccttgt	14	8	1	1	rs34305575	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:11546314T>C	ENST00000389362.4	-	3	733	c.698A>G	c.(697-699)cAa>cGa	p.Q233R	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	233	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].		Q -> R (in dbSNP:rs34305575).			extracellular region (GO:0005576)		p.Q233R(1)|p.Q212R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGCACTTTGGGACTTGTT	0.602													t|||	1065	0.21266	0.525	0.1513	5008	,	,		19415	0.0942		0.0298	False		,,,				2504	0.1442				p.Q233R		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	prostate(2)	c.A698G						scavenged	.	C	ARG/GLN	2053,2353		493,1067,643	246	269	261		698	-1.2	0	12	dbSNP_126	261	255,8339		12,231,4054	no	missense	PRB2	NM_006248.3	43	505,1298,4697	CC,CT,TT		2.9672,46.5956,17.7538	benign	233/417	11546314	2308,10692	2203	4297	6500	SO:0001583	missense	653247	exon3			GCACTTTGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.698A>G	12.37:g.11546314T>C	ENSP00000374013:p.Gln233Arg	Somatic	946	10	0.0105708		WXS	Illumina HiSeq	Phase_I	896	21	0.0234375	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	336	0.15384615384615385	207	0.42073170731707316	55	0.15193370165745856	57	0.09965034965034965	17	0.022427440633245383	.	1.619	-0.522010	0.04171	0.465956	0.029672	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.17	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.14252	T	0.57	.	5.1581	0.15046	0.0:0.2047:0.0:0.7953	rs34305575	233	P02812	PRB2_HUMAN	R	233	ENSP00000374013:Q233R	ENSP00000374013:Q233R	Q	-	2	0	PRB2	11437581	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-0.886000	0.03966	-1.635000	0.00777	CAA	T|0.891;C|0.109	0.109	strong		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546314	T	C	11546314	3	2	31	1	0	0	0	0	1	0	0	0	12443	1812	63	2	556	2	PRB2	12	11546314	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	84748	11546314	122305581	74	22727										
PLCZ1	89869	hgsc.bcm.edu	37	chr12	18841114	18841114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aatgaatcacctttgttagaTgatgaatgagtaagaggcaa	10	4	1	6			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:18841114T>C	ENST00000538330.1	-	9	1227	c.846A>G	c.(844-846)tcA>tcG	p.S282S	PLCZ1_ENST00000447925.2_Silent_p.S498S|PLCZ1_ENST00000266505.7_Silent_p.S500S|PLCZ1_ENST00000435379.1_Silent_p.S305S|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Silent_p.S363S|PLCZ1_ENST00000539875.1_Silent_p.S307S					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)					CTTTGTTAGATGATGAATGAG	0.318																																					p.S500S		Atlas-SNP	.											.	PLCZ1	107	.	0			c.A1500G						PASS	.						94	103	100					12																	18841114		2203	4298	6501	SO:0001819	synonymous_variant	89869	exon13			GTTAGATGATGAA	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	ENST00000538330.1:c.846A>G	12.37:g.18841114T>C		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	93	7	0.0752688	NM_033123		Silent	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	T	1.226	-0.625562	0.03610	.	.	ENSG00000139151	ENST00000536023	.	.	.	5.39	0.37	0.16160	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	.	2.5671	0.04785	0.1216:0.0984:0.3429:0.4371	.	.	.	.	V	70	.	.	I	-	1	0	PLCZ1	18732381	0.003000	0.15002	0.004000	0.12327	0.331000	0.28603	-0.103000	0.10940	0.407000	0.25591	0.260000	0.18958	ATC	.	.	none		0.318	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		C	18841114	T	C	18841114	2	2	31	1	0	0	0	0	0	0	0	1	12044	1451	51	2		2	PLCZ1	12	18841114	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	7294800	18841114	115010781	75	22728										
ERGIC2	51290	hgsc.bcm.edu	37	chr12	29514613	29514613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgctgtggtgaaagatcaaaTactgtctgaaatgaaagaaa	10	4	2	5			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:29514613T>C	ENST00000360150.4	-	6	414	c.339A>G	c.(337-339)gtA>gtG	p.V113V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	113					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					AAAGATCAAATACTGTCTGAA	0.308																																					p.V113V		Atlas-SNP	.											ERGIC2,NS,carcinoma,-2,1	ERGIC2	29	1	0			c.A339G						PASS	.						146	146	146					12																	29514613		1833	4083	5916	SO:0001819	synonymous_variant	51290	exon6			ATCAAATACTGTC	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.339A>G	12.37:g.29514613T>C		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	143	8	0.0559441	NM_016570	A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	CCDS41765.1																																																																																			.	.	none		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		C	29514613	T	C	29514613	2	2	31	1	0	0	0	0	0	0	0	1	5224	1393	49	2		2	ERGIC2	12	29514613	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	10673499	29514613	104337282	76	22729										
CS	1431	hgsc.bcm.edu	37	chr12	56676233	56676233	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cttggttcggctgataccctGtgcatatgctcgggcaaagt	12	10	0	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:56676233G>A	ENST00000351328.3	-	6	749	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	CS_ENST00000548567.1_Nonsense_Mutation_p.Q121*|CS_ENST00000542324.2_Nonsense_Mutation_p.Q174*	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	187				Q -> R (in Ref. 1; AAC25560). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTGATACCCTGTGCATATGCT	0.507																																					p.Q187X		Atlas-SNP	.											CS,NS,adenoma,+1,1	CS	44	1	0			c.C559T						scavenged	.						102	77	86					12																	56676233		2203	4300	6503	SO:0001587	stop_gained	1431	exon6			TACCCTGTGCATA		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.559C>T	12.37:g.56676233G>A	ENSP00000342056:p.Gln187*	Somatic	192	1	0.00520833		WXS	Illumina HiSeq	Phase_I	185	12	0.0648649	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Nonsense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444473	0.83993	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554	.	.	.	4.79	2.95	0.34219	.	0.098661	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4858	14.6063	0.68481	0.0:0.7188:0.2812:0.0	.	.	.	.	X	121;187;174;112;121;121;121;121;151;137	.	ENSP00000342056:Q187X	Q	-	1	0	CS	54962500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.603000	0.61105	0.695000	0.31675	-0.139000	0.14373	CAG	.	.	none		0.507	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		A	56676233	G	A	56676233	4	1	31	1	0	0	0	0	0	1	0	0	3924	1386	48	2	865	2	CS	12	56676233	Nonsense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	27161620	56676233	77175662	77	22730										
LLPH	84298	hgsc.bcm.edu	37	chr12	66522820	66522820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aagcctgctggcctcctttgGggcattcttttttctctttt	8	11	2	0	rs574607020	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:66522820G>C	ENST00000266604.2	-	2	137	c.67C>G	c.(67-69)Cca>Gca	p.P23A	RP11-745O10.2_ENST00000510317.2_RNA|LLPH_ENST00000446587.2_Missense_Mutation_p.P23A|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	23	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTCCTTTGGGGCATTCTTT	0.393													G|||	17	0.00339457	0.0129	0.0	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.0				p.P23A		Atlas-SNP	.											LLPH,NS,carcinoma,0,1	LLPH	25	1	0			c.C67G						scavenged	.						90	87	88					12																	66522820		2203	4297	6500	SO:0001583	missense	84298	exon2			CCTTTGGGGCATT	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.67C>G	12.37:g.66522820G>C	ENSP00000266604:p.Pro23Ala	Somatic	458	19	0.0414847		WXS	Illumina HiSeq	Phase_I	464	23	0.049569	NM_032338	Q3B766	Missense_Mutation	SNP	ENST00000266604.2	37	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269830	0.59540	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74822	-0.3534	8	.	.	.	-12.6244	16.9492	0.86239	0.0:0.0:1.0:0.0	.	23	Q9BRT6	LLPH_HUMAN	A	23	.	.	P	-	1	0	LLPH	64809087	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.494000	0.90477	2.283000	0.76528	0.467000	0.42956	CCA	.	.	none		0.393	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		C	66522820	G	C	66522820	3	2	31	1	0	0	0	0	1	0	0	0	8835	1232	43	4	330	4	LLPH	12	66522820	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	9846587	66522820	67329075	78	22731										
GNPTAB	79158	hgsc.bcm.edu	37	chr12	102158979	102158979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gcaccttcaactcctcttttGgctacttctgcaaagctgaa	6	13	3	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr12:102158979G>A	ENST00000299314.7	-	13	1978	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	572					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTCCTCTTTTGGCTACTTCTG	0.393																																					p.A572A		Atlas-SNP	.											GNPTAB,NS,carcinoma,-1,1	GNPTAB	120	1	0			c.C1716T						PASS	.						186	174	178					12																	102158979		2203	4300	6503	SO:0001819	synonymous_variant	79158	exon13			TCTTTTGGCTACT	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1716C>T	12.37:g.102158979G>A		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	158	11	0.0696203	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	CCDS9088.1																																																																																			.	.	none		0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102158979	G	A	102158979	2	1	31	1	0	0	0	0	0	0	0	1	6545	1335	47	2		2	GNPTAB	12	102158979	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	35636159	102158979	31692916	79	22732										
NUBPL	80224	hgsc.bcm.edu	37	chr14	32142594	32142594	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gcctctcttgaattatggtaTtgcttggtgagcatatatat	9	6	1	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr14:32142594T>G	ENST00000281081.7	+	5	461	c.416T>G	c.(415-417)aTt>aGt	p.I139S	NUBPL_ENST00000536705.1_Missense_Mutation_p.I43S	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	139					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTATGGTATTGCTTGGTGA	0.279																																					p.I139S		Atlas-SNP	.											.	NUBPL	21	.	0			c.T416G						PASS	.						46	42	43					14																	32142594		1788	4062	5850	SO:0001583	missense	80224	exon5			ATGGTATTGCTTG	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.416T>G	14.37:g.32142594T>G	ENSP00000281081:p.Ile139Ser	Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	353	17	0.0481586	NM_025152	B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132126	0.77662	.	.	ENSG00000151413	ENST00000281081;ENST00000551314;ENST00000536705	T;T;T	0.49432	0.78;0.87;0.78	5.53	5.53	0.82687	.	0.096119	0.64402	D	0.000001	T	0.67144	0.2862	H	0.96015	3.755	0.48135	D	0.99959	P;P	0.40578	0.586;0.722	B;B	0.43809	0.375;0.432	T	0.77395	-0.2604	10	0.87932	D	0	0.811	13.3964	0.60856	0.0:0.0:0.0:1.0	.	43;139	B4DWB0;Q8TB37	.;NUBPL_HUMAN	S	139;87;43	ENSP00000281081:I139S;ENSP00000447234:I87S;ENSP00000439286:I43S	ENSP00000281081:I139S	I	+	2	0	NUBPL	31212345	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.612000	0.74187	2.097000	0.63578	0.455000	0.32223	ATT	.	.	none		0.279	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		G	32142594	T	G	32142594	3	3	31	1	0	0	0	0	1	0	0	0	10717	1493	52	5	434	5	NUBPL	14	32142594	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		32142594	75206946	80	22733										
FOXN3	1112	hgsc.bcm.edu	37	chr14	89628930	89628930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gtctctttttgaggggcagtGtgtcgctggggaccttcctg	15	9	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr14:89628930G>T	ENST00000345097.4	-	7	1417	c.1301C>A	c.(1300-1302)aCa>aAa	p.T434K	FOXN3_ENST00000555353.1_Missense_Mutation_p.T412K|FOXN3_ENST00000261302.5_Missense_Mutation_p.T434K|FOXN3_ENST00000557258.1_Missense_Mutation_p.T412K	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	434					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T412I(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGGGGCAGTGTGTCGCTGGG	0.612																																					p.T434K		Atlas-SNP	.											FOXN3,NS,carcinoma,0,1	FOXN3	78	1	1	Substitution - Missense(1)	ovary(1)	c.C1301A						scavenged	.						94	86	89					14																	89628930		2203	4300	6503	SO:0001583	missense	1112	exon7			GGCAGTGTGTCGC		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1301C>A	14.37:g.89628930G>T	ENSP00000343288:p.Thr434Lys	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	151	5	0.0331126	NM_001085471	Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	9.922	1.212523	0.22289	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.95	5.95	0.96441	.	0.114128	0.64402	D	0.000017	T	0.57695	0.2071	L	0.40543	1.245	0.58432	D	0.999998	P;P	0.40515	0.561;0.719	B;B	0.44085	0.079;0.44	T	0.53078	-0.8489	10	0.02654	T	1	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	434;412	O00409;O00409-2	FOXN3_HUMAN;.	K	434;434;412;412	ENSP00000343288:T434K;ENSP00000261302:T434K;ENSP00000452005:T412K;ENSP00000452227:T412K	ENSP00000261302:T434K	T	-	2	0	FOXN3	88698683	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.816000	0.99350	2.824000	0.97209	0.655000	0.94253	ACA	.	.	none		0.612	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		T	89628930	G	T	89628930	3	4	31	1	0	0	0	0	1	0	0	0	6021	1377	48	4	175	4	FOXN3	14	89628930	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	57486336	89628930	17720610	81	22734										
CCDC88C	440193	hgsc.bcm.edu	37	chr14	91883122	91883122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	caaaaagatgccgtccactaAatccatgtacatagtcaggt	7	10	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr14:91883122A>C	ENST00000389857.6	-	2	207	c.121T>G	c.(121-123)Tta>Gta	p.L41V	CCDC88C_ENST00000389856.5_Missense_Mutation_p.L33V|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L41V|RP11-895M11.3_ENST00000557524.1_lincRNA	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	41					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCGTCCACTAAATCCATGTAC	0.473																																					p.L41V		Atlas-SNP	.											.	CCDC88C	192	.	0			c.T121G						PASS	.						56	54	54					14																	91883122		1952	4139	6091	SO:0001583	missense	440193	exon2			CCACTAAATCCAT		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.121T>G	14.37:g.91883122A>C	ENSP00000374507:p.Leu41Val	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	88	6	0.0681818	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789352	0.70337	.	.	ENSG00000015133	ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403	T;T;T	0.65732	-0.17;-0.17;-0.17	5.18	1.39	0.22231	.	0.000000	0.30329	U	0.009879	T	0.73845	0.3639	M	0.86864	2.845	0.80722	D	1	D;D	0.65815	0.971;0.995	D;P	0.64506	0.926;0.894	T	0.70781	-0.4779	10	0.87932	D	0	-4.4737	2.9797	0.05949	0.4867:0.0:0.3289:0.1844	.	41;41	Q9P219;G3V3S0	DAPLE_HUMAN;.	V	41;5;33;41	ENSP00000374507:L41V;ENSP00000374506:L33V;ENSP00000451392:L41V	ENSP00000374506:L33V	L	-	1	2	CCDC88C	90952875	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.407000	0.34657	0.333000	0.23563	0.379000	0.24179	TTA	.	.	none		0.473	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		C	91883122	A	C	91883122	3	2	31	1	0	0	0	0	1	0	0	0	2865	11	1	5	6081	5	CCDC88C	14	91883122	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	2254192	91883122	15466418	82	22735										
TECPR2	9895	hgsc.bcm.edu	37	chr14	102894692	102894692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggaacattataagaatttcaAgcaggcctgaaggattaaca	9	6	1	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr14:102894692A>G	ENST00000359520.7	+	7	1283	c.1057A>G	c.(1057-1059)Agc>Ggc	p.S353G	TECPR2_ENST00000558678.1_Missense_Mutation_p.S353G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	353					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AAGAATTTCAAGCAGGCCTGA	0.338																																					p.S353G		Atlas-SNP	.											.	TECPR2	114	.	0			c.A1057G						PASS	.						69	75	73					14																	102894692		2203	4300	6503	SO:0001583	missense	9895	exon7			ATTTCAAGCAGGC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1057A>G	14.37:g.102894692A>G	ENSP00000352510:p.Ser353Gly	Somatic	305	0	0		WXS	Illumina HiSeq	Phase_I	297	14	0.047138	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779964	0.70222	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15487	2.42	5.31	5.31	0.75309	.	0.087074	0.85682	D	0.000000	T	0.22475	0.0542	L	0.51422	1.61	0.38609	D	0.950842	P;P	0.49447	0.86;0.924	B;P	0.45167	0.243;0.472	T	0.03933	-1.0991	10	0.56958	D	0.05	.	15.3084	0.74011	1.0:0.0:0.0:0.0	.	353;353	A5PKY3;O15040	.;TCPR2_HUMAN	G	353	ENSP00000352510:S353G	ENSP00000352510:S353G	S	+	1	0	TECPR2	101964445	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	8.560000	0.90712	2.029000	0.59856	0.472000	0.43445	AGC	.	.	none		0.338	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		G	102894692	A	G	102894692	3	3	31	1	0	0	0	0	1	0	0	0	15741	72	3	3	1079	3	TECPR2	14	102894692	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	11011570	102894692	4454848	83	22736										
B2M	567	hgsc.bcm.edu	37	chr15	45003779	45003779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggccttagctgtgctcgcgcTactctctctttctggcctgg	11	14	3	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr15:45003779T>C	ENST00000558401.1	+	1	105	c.35T>C	c.(34-36)cTa>cCa	p.L12P	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Missense_Mutation_p.L12P|B2M_ENST00000544417.1_Missense_Mutation_p.L12P	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	12					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.A11fs*42(1)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTGCTCGCGCTACTCTCTCTT	0.617																																					p.L12P		Atlas-SNP	.											B2M,colon,carcinoma,0,2	B2M	99	2	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	c.T35C						PASS	.						132	94	107					15																	45003779		2198	4298	6496	SO:0001583	missense	567	exon1			TCGCGCTACTCTC	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.35T>C	15.37:g.45003779T>C	ENSP00000452780:p.Leu12Pro	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	95	7	0.0736842	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443926	0.63067	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01388	4.95	5.35	5.35	0.76521	.	9.011740	0.00721	U	0.000881	T	0.10809	0.0264	M	0.74647	2.275	0.29321	N	0.867335	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.17107	-1.0380	10	0.87932	D	0	.	11.9001	0.52678	0.0:0.0:0.0:1.0	.	12;12;12	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	P	12	ENSP00000437604:L12P	ENSP00000340858:L12P	L	+	2	0	B2M	42791071	0.253000	0.23982	0.051000	0.19133	0.007000	0.05969	3.556000	0.53734	2.371000	0.80710	0.533000	0.62120	CTA	.	.	none		0.617	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		C	45003779	T	C	45003779	3	2	31	1	0	0	0	0	1	0	0	0	1244	1522	53	3	37	3	B2M	15	45003779	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		45003779	57527613	84	22737										
UACA	55075	hgsc.bcm.edu	37	chr15	70976724	70976724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	caagcttatatcagcaccatTtttaattaagacttctactg	4	9	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr15:70976724T>C	ENST00000322954.6	-	8	849	c.664A>G	c.(664-666)Aat>Gat	p.N222D	UACA_ENST00000539319.1_Intron|UACA_ENST00000560441.1_Missense_Mutation_p.N209D|UACA_ENST00000379983.2_Missense_Mutation_p.N209D|UACA_ENST00000559183.1_5'Flank	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	222					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGCACCATTTTTAATTAAG	0.403																																					p.N222D		Atlas-SNP	.											UACA_ENST00000322954,colon,carcinoma,+1,2	UACA	235	2	0			c.A664G						PASS	.						180	172	175					15																	70976724		2199	4297	6496	SO:0001583	missense	55075	exon8			CACCATTTTTAAT	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.664A>G	15.37:g.70976724T>C	ENSP00000314556:p.Asn222Asp	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	140	7	0.05	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.870855	0.72065	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	T;T	0.64618	-0.11;-0.11	5.4	5.4	0.78164	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000015	T	0.68604	0.3019	L	0.42744	1.35	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.976;0.976;0.997	T	0.65356	-0.6188	10	0.25751	T	0.34	-31.1748	9.4231	0.38563	0.0:0.0794:0.0:0.9206	.	222;222;209	B7ZKM6;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	D	222;209;209	ENSP00000314556:N222D;ENSP00000369319:N209D	ENSP00000314556:N222D	N	-	1	0	UACA	68763778	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.516000	0.53436	2.176000	0.68965	0.379000	0.24179	AAT	.	.	none		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70976724	T	C	70976724	3	2	31	1	0	0	0	0	1	0	0	0	16821	1841	64	2	3634	2	UACA	15	70976724	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	25972945	70976724	31554668	85	22738										
KIAA0174	9798	hgsc.bcm.edu	37	chr16	71956517	71956517	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatggaacggtgccaatgccCatgcccatgcccatgcctat	10	14	0	0	rs549750934|rs372825060	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr16:71956517C>A	ENST00000378799.6	+	7	1049	c.693C>A	c.(691-693)ccC>ccA	p.P231P	IST1_ENST00000535424.1_Silent_p.P244P|IST1_ENST00000329908.8_Silent_p.P231P|IST1_ENST00000544564.1_Silent_p.P231P|IST1_ENST00000541571.2_Silent_p.P231P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000606369.1_Silent_p.P83P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Silent_p.P231P|IST1_ENST00000538850.1_Silent_p.P83P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	229	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgccaatgcccatgcccatgc	0.498																																					p.P244P		Atlas-SNP	.											KIAA0174,rectum,carcinoma,0,1	.	.	1	0			c.C732A						scavenged	.						102	70	81					16																	71956517		2198	4300	6498	SO:0001819	synonymous_variant	9798	exon8			AATGCCCATGCCC	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.693C>A	16.37:g.71956517C>A		Somatic	69	2	0.0289855		WXS	Illumina HiSeq	Phase_I	64	8	0.125	NM_001270976	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	C	7.943	0.743115	0.15642	.	.	ENSG00000182149	ENST00000541848	.	.	.	5.54	-4.88	0.03113	.	0.046113	0.85682	D	0.000000	T	0.58750	0.2144	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.60454	-0.7260	6	0.62326	D	0.03	-2.7071	8.7497	0.34609	0.1145:0.2195:0.0:0.666	.	.	.	.	Q	118	.	ENSP00000437499:P118Q	P	+	2	0	KIAA0174	70514018	0.000000	0.05858	0.488000	0.27440	0.917000	0.54804	-3.886000	0.00342	-0.979000	0.03529	-0.122000	0.15005	CCA	.	.	none		0.498	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		A	71956517	C	A	71956517	2	1	31	1	0	0	0	0	0	0	0	1	8158	581	21	4		4	KIAA0174	16	71956517	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		71956517	18398236	86	22739										
ZFHX3	463	hgsc.bcm.edu	37	chr16	72831382	72831382	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgttgttgttgttgttgttgTtgttgctgttgctgctgctg	14	4	0	0	rs112722798	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr16:72831382T>C	ENST00000268489.5	-	9	5871	c.5199A>G	c.(5197-5199)caA>caG	p.Q1733Q	ZFHX3_ENST00000397992.5_Silent_p.Q819Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1733	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgttgctgtt	0.532																																					p.Q1733Q		Atlas-SNP	.											ZFHX3,NS,carcinoma,0,1	ZFHX3	404	1	0			c.A5199G						scavenged	.	T	,	2,4394	2.1+/-5.4	0,2,2196	44	41	42		2457,5199	-9.9	0.5	16	dbSNP_132	42	9,8591	3.7+/-12.6	0,9,4291	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,11,6487	CC,CT,TT		0.1047,0.0455,0.0846	,	819/2790,1733/3704	72831382	11,12985	2198	4300	6498	SO:0001819	synonymous_variant	463	exon9			TTGTTGTTGTTGC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5199A>G	16.37:g.72831382T>C		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	112	3	0.0267857	NM_006885	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																			T|0.999;C|0.001	0.001	strong		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72831382	T	C	72831382	2	2	31	1	0	0	0	0	0	0	0	1	17631	1722	60	2		2	ZFHX3	16	72831382	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	874865	72831382	17523371	87	22740										
ZC3H18	124245	hgsc.bcm.edu	37	chr16	88675458	88675461	+	Splice_Site	DEL	GAGT	GAGT	-													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	agagccgtatcataattaccGagtaagtatgacttcaatat							TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	GAGT	GAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr16:88675458_88675461delGAGT	ENST00000301011.5	+	7	1405_1406	c.1205_1206delGAGT	c.(1204-1206)cga>c	p.R402fs	ZC3H18_ENST00000452588.2_Splice_Site_p.R426fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	402						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CATAATTACCGAGTAAGTATGACT	0.363																																					p.402_402del	Ovarian(121;375 2276 20373 38669)	Atlas-Indel	.											.	ZC3H18	90	.	0			c.1204_1206del						PASS	.																																			SO:0001630	splice_region_variant	124245	exon7			.	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1206+1GAGT>-	16.37:g.88675458_88675461delGAGT		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	131	13	0.0992366	NM_144604	Q96DG4|Q96MP7	In_Frame_Del	DEL	ENST00000301011.5	37	CCDS10967.1																																																																																			.	.	none		0.363	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Frame_Shift_Del	-	88675461	GAGT	-	88675458	8	5	31	1	0	1	0	1	0	0	1	0	17565	1072	37	0	1227	0	ZC3H18	16	88675458	Splice_Site	DEL	GAGT	TCGA-GS-A9TV-01A-11D-A382-10	15844076	88675458	1679295	88	22741										
GALNS	2588	hgsc.bcm.edu	37	chr16	88901673	88901673	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttgtccgacgtgaagaagacGaaggtgttgtccgcgacgtg	15	8	0	3	rs35232749	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr16:88901673G>A	ENST00000268695.5	-	8	934	c.846C>T	c.(844-846)ttC>ttT	p.F282F	GALNS_ENST00000542788.1_Silent_p.F207F	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	282	Catalytic domain.		Missing (in MPS4A; mild form).		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TGAAGAAGACGAAGGTGTTGT	0.592													G|||	225	0.0449281	0.0242	0.072	5008	,	,		17284	0.0228		0.0358	False		,,,				2504	0.0859				p.F282F	GBM(129;1929 2344 25209 33204)	Atlas-SNP	.											.	GALNS	37	.	0			c.C846T						PASS	.	G		153,4241	103.8+/-142.4	0,153,2044	145	103	117		846	-7.7	0.1	16	dbSNP_126	117	316,8284	111.4+/-171.7	3,310,3987	no	coding-synonymous	GALNS	NM_000512.4		3,463,6031	AA,AG,GG		3.6744,3.482,3.6094		282/523	88901673	469,12525	2197	4300	6497	SO:0001819	synonymous_variant	2588	exon8			GAAGACGAAGGTG	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.846C>T	16.37:g.88901673G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	60	5	0.0833333	NM_000512	Q86VK3	Silent	SNP	ENST00000268695.5	37	CCDS10970.1																																																																																			G|0.965;A|0.035	0.035	strong		0.592	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			A	88901673	G	A	88901673	2	1	31	1	0	0	0	0	0	0	0	1	6206	1049	37	1		1	GALNS	16	88901673	Silent	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	226215	88901673	1453080	89	22742										
TP53	7157	hgsc.bcm.edu	37	chr17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgccgcccatgcaggaactgTtacacatgtagttgtagtgg	12	9	0	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGGAACTGTTACACATGTA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.N239S	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,carcinoma,-1,145	TP53	33396	145	76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(1)	c.A716G						scavenged	.						135	105	115					17																	7577565		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GAACTGTTACACA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	84	3	0.0357143	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC	.	.	none		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577565	T	C	7577565	3	2	31	1	0	0	0	0	1	0	0	0	16378	1725	60	2	574	2	TP53	17	7577565	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10		7577565	73617645	90	22743										
COPS3	8533	hgsc.bcm.edu	37	chr17	17163724	17163724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgtgcttattcaccaggtttCggagttctgaggggttgttg	14	6	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:17163724C>T	ENST00000268717.5	-	8	933	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	COPS3_ENST00000539941.2_Missense_Mutation_p.R256Q|COPS3_ENST00000439936.2_Intron	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	276	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CACCAGGTTTCGGAGTTCTGA	0.418																																					p.R276Q		Atlas-SNP	.											.	COPS3	41	.	0			c.G827A						PASS	.						223	186	198					17																	17163724		2203	4300	6503	SO:0001583	missense	8533	exon8			AGGTTTCGGAGTT	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.827G>A	17.37:g.17163724C>T	ENSP00000268717:p.Arg276Gln	Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	173	19	0.109827	NM_003653	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527788	0.64860	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352	T;T	0.29917	1.55;1.55	5.47	4.5	0.54988	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	L	0.35723	1.085	0.80722	D	1	B	0.27853	0.191	B	0.26416	0.069	T	0.03212	-1.1060	10	0.10377	T	0.69	-10.3403	13.1739	0.59615	0.0:0.9235:0.0:0.0765	.	276	Q9UNS2	CSN3_HUMAN	Q	276;256;307	ENSP00000268717:R276Q;ENSP00000437606:R256Q	ENSP00000268717:R276Q	R	-	2	0	COPS3	17104449	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.481000	0.81124	1.306000	0.44926	0.655000	0.94253	CGA	.	.	none		0.418	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			T	17163724	C	T	17163724	3	4	31	1	0	0	0	0	1	0	0	0	3734	884	31	1	464	1	COPS3	17	17163724	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	9586159	17163724	64031486	91	22744										
SARM1	7448	hgsc.bcm.edu	37	chr17	26699195	26699196	+	5'Flank	INS	-	-	G													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	atggtgggctgcgggtggccINScgggcccgcgaaagtgtcgc					rs67356455|rs200078932|rs11437592		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:26699195_26699196insG	ENST00000226218.4	-	0	0				TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_Frame_Shift_Ins_p.R15fs|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TGCGGGTGGCCCGGGCCCGCGA	0.767													G|-|G|deletion	5008	1.0	1.0	1.0	5008	,	,		9018	1.0		1.0	False		,,,				2504	1.0				p.P48fs		Atlas-Indel	.											.	SARM1	40	.	0			c.142_143insG						PASS	.			901,19		450,1,9						3.8	1		dbSNP_130	1	1901,43		949,3,20	no	frameshift	SARM1	NM_015077.2		1399,4,29	A1A1,A1R,RR		2.2119,2.0652,2.1648				2802,62				SO:0001631	upstream_gene_variant	23098	exon1			.	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699195_26699196insG	Exception_encountered	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	12	11	0.916667	NM_015077	B2R7G0|P01141|Q9BSH7	Frame_Shift_Ins	INS	ENST00000226218.4	37	CCDS11229.1																																																																																			-|0.010;G|0.990	0.990	strong		0.767	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		G	26699196	-	G	26699195	6	5	31	0	1	1	1	0	0	0	0	0	13842	623	22	0		0	SARM1	17	26699195	5'Flank	INS	-	TCGA-GS-A9TV-01A-11D-A382-10	9535471	26699195	54496015	92	22745	465	2								
SARM1	7448	hgsc.bcm.edu	37	chr17	26699199	26699200	+	5'Flank	INS	-	-	C													0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgggctgcgggtggcccgggINScccgcgaaagtgtcgccggg					rs71135830|rs112387743	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:26699199_26699200insC	ENST00000226218.4	-	0	0				TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_Frame_Shift_Ins_p.A16fs|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGTGGCCCGGGCCCGCGAAAGT	0.777													CCCC|CCC|CCCC|deletion	4982	0.994808	0.9887	1.0	5008	,	,		9313	1.0		0.9891	False		,,,				2504	1.0				p.G49fs		Atlas-Indel	.											.	SARM1	40	.	0			c.146_147insC						PASS	.			606,4		303,0,2						0	1		dbSNP_130	1	1168,14		582,4,5	no	frameshift	SARM1	NM_015077.2		885,4,7	A1A1,A1R,RR		1.1844,0.6557,1.0045				1774,18				SO:0001631	upstream_gene_variant	23098	exon1			.	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699202_26699202dupC	Exception_encountered	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	12	10	0.833333	NM_015077	B2R7G0|P01141|Q9BSH7	Frame_Shift_Ins	INS	ENST00000226218.4	37	CCDS11229.1																																																																																			C|1.000;|0.000	1.000	strong		0.777	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699200	-	C	26699199	6	5	31	0	1	1	1	0	0	0	0	0	13842	1203	42	0		0	SARM1	17	26699199	5'Flank	INS	-	TCGA-GS-A9TV-01A-11D-A382-10	4	26699199	54496011	93	22746	465	2								
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240796	39240796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gcccacctgctgccgccccaGctgctgccgcccctgctgct	10	22	0	0	rs553572799|rs199957151	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:39240796G>C	ENST00000391417.4	+	1	338	c.338G>C	c.(337-339)aGc>aCc	p.S113T		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccgccccagctgctgccgc	0.667																																					p.S113T		Atlas-SNP	.											KRTAP4-7,NS,carcinoma,+1,1	KRTAP4-7	49	1	2	Unknown(1)|Deletion - In frame(1)	NS(2)	c.G338C						scavenged	.																																			SO:0001583	missense	100132476	exon1			GCCCCAGCTGCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.338G>C	17.37:g.39240796G>C	ENSP00000375236:p.Ser113Thr	Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	33	4	0.121212	NM_033061	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263726	0.01433	.	.	ENSG00000240871	ENST00000391417	T	0.00627	6.12	2.73	1.66	0.24008	.	2.038930	0.02697	N	0.111300	T	0.00552	0.0018	.	.	.	0.21290	N	0.999731	B	0.13145	0.007	B	0.12837	0.008	T	0.47222	-0.9134	9	0.17832	T	0.49	.	5.1702	0.15107	0.0:0.2319:0.5315:0.2367	.	168	Q9BYR0	KRA47_HUMAN	T	113	ENSP00000375236:S113T	ENSP00000375236:S113T	S	+	2	0	KRTAP4-7	36494322	0.010000	0.17322	0.067000	0.19924	0.024000	0.10985	-0.517000	0.06275	0.191000	0.20236	0.289000	0.19496	AGC	.	.	weak		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			C	39240796	G	C	39240796	3	2	31	1	0	0	0	0	1	0	0	0	8555	971	34	4	340	4	KRTAP4-7	17	39240796	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	12541597	39240796	41954414	94	22747										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000531206.1_Missense_Mutation_p.T167S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.T106S|CDC27_ENST00000527547.1_Missense_Mutation_p.T167S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	261	4	0.0153257		WXS	Illumina HiSeq	Phase_I	213	9	0.0422535	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	31	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	5993931	45234727	35960483	95	22748										
ANKRD30B	374860	hgsc.bcm.edu	37	chr18	14797834	14797834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	aaagccttagaattaaaggaCagagaaacactcaaagcagg	9	7	1	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr18:14797834C>T	ENST00000358984.4	+	20	2190	c.2010C>T	c.(2008-2010)gaC>gaT	p.D670D	ANKRD30B_ENST00000579292.1_3'UTR	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	670										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATTAAAGGACAGAGAAACAC	0.308																																					p.D670D		Atlas-SNP	.											.	ANKRD30B	237	.	0			c.C2010T						PASS	.						60	47	51					18																	14797834		692	1587	2279	SO:0001819	synonymous_variant	374860	exon20			AAAGGACAGAGAA	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.2010C>T	18.37:g.14797834C>T		Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	258	19	0.0736434	NM_001145029	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.	.	none		0.308	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		T	14797834	C	T	14797834	2	4	31	1	0	0	0	0	0	0	0	1	659	477	17	2		2	ANKRD30B	18	14797834	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		14797834	63279414	96	22749										
ASXL3	80816	hgsc.bcm.edu	37	chr18	31326209	31326209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgctttctgagccacaaaagCcttttacccaattagctgct	6	12	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr18:31326209C>T	ENST00000269197.5	+	12	6397	c.6397C>T	c.(6397-6399)Cct>Tct	p.P2133S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2133					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCACAAAAGCCTTTTACCCA	0.398																																					p.P2133S		Atlas-SNP	.											.	ASXL3	405	.	0			c.C6397T						PASS	.						82	87	85					18																	31326209		1892	4117	6009	SO:0001583	missense	80816	exon12			CAAAAGCCTTTTA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6397C>T	18.37:g.31326209C>T	ENSP00000269197:p.Pro2133Ser	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	110	7	0.0636364	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938029	0.73557	.	.	ENSG00000141431	ENST00000269197	T	0.15718	2.4	6.17	6.17	0.99709	.	.	.	.	.	T	0.23965	0.0580	N	0.24115	0.695	0.52501	D	0.999954	D	0.59767	0.986	P	0.55615	0.78	T	0.01363	-1.1374	9	0.17369	T	0.5	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2133	Q9C0F0	ASXL3_HUMAN	S	2133	ENSP00000269197:P2133S	ENSP00000269197:P2133S	P	+	1	0	ASXL3	29580207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.078000	0.57606	2.941000	0.99782	0.655000	0.94253	CCT	.	.	none		0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31326209	C	T	31326209	3	4	31	1	0	0	0	0	1	0	0	0	1068	739	26	2	6443	2	ASXL3	18	31326209	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	16528375	31326209	46751039	97	22750										
ZNF407	55628	hgsc.bcm.edu	37	chr18	72347482	72347482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	attctgaacagaatttatttTtacatattaaaggacagcat	5	5	1	2	rs12327359	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr18:72347482T>C	ENST00000299687.5	+	1	4507	c.4507T>C	c.(4507-4509)Tta>Cta	p.L1503L	ZNF407_ENST00000309902.6_Silent_p.L1503L|ZNF407_ENST00000582337.1_Silent_p.L1503L|ZNF407_ENST00000577538.1_Silent_p.L1503L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1503L(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATTTATTTTTACATATTAA	0.473													C|||	2123	0.423922	0.7201	0.3271	5008	,	,		19354	0.1845		0.4175	False		,,,				2504	0.3456				p.L1503L		Atlas-SNP	.											ZNF407,NS,carcinoma,0,1	ZNF407	231	1	1	Substitution - coding silent(1)	prostate(1)	c.T4507C						PASS	.	C	,,	2571,1165		885,801,182	41	43	43		4507,4507,4507	4.8	0.9	18	dbSNP_120	43	3538,4686		754,2030,1328	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	1639,2831,1510	CC,CT,TT		43.0204,31.1831,48.9214	,,	1503/1816,1503/1661,1503/2249	72347482	6109,5851	1868	4112	5980	SO:0001819	synonymous_variant	55628	exon1			TTATTTTTACATA	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4507T>C	18.37:g.72347482T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	95	5	0.0526316	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			T|0.567;C|0.433	0.433	strong		0.473	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72347482	T	C	72347482	2	2	31	1	0	0	0	0	0	0	0	1	17884	1838	64	2		2	ZNF407	18	72347482	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	41021273	72347482	5729766	98	22751										
MUC16	94025	hgsc.bcm.edu	37	chr19	9002597	9002597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ccagtacagccgctctctgtCcagtccagggcttttggggt	12	13	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr19:9002597C>T	ENST00000397910.4	-	51	40422	c.40219G>A	c.(40219-40221)Gac>Aac	p.D13407N	MUC16_ENST00000380951.5_Missense_Mutation_p.D48N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13409	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTCTCTGTCCAGTCCAGGG	0.592																																					p.D13407N		Atlas-SNP	.											MUC16_ENST00000397910,NS,lymphoid_neoplasm,0,2	MUC16	4315	2	0			c.G40219A						scavenged	.																																			SO:0001583	missense	94025	exon51			CTCTGTCCAGTCC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40219G>A	19.37:g.9002597C>T	ENSP00000381008:p.Asp13407Asn	Somatic	140	13	0.0928571		WXS	Illumina HiSeq	Phase_I	118	12	0.101695	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.51|11.51	1.659878|1.659878	0.29515|0.29515	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.839|-0.839	0.10759|0.10759	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	L|L	0.52759|0.52759	1.655|1.655	.|.	.|.	.|.	B;D|.	0.60575|.	0.007;0.988|.	B;D|.	0.75020|.	0.014;0.985|.	T|.	0.51236|.	-0.8731|.	8|.	0.54805|.	T|.	0.06|.	-11.8857|-11.8857	6.8102|6.8102	0.23801|0.23801	0.0:0.8029:0.0:0.1971|0.0:0.8029:0.0:0.1971	.|.	21052;13407|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13407;48|246	ENSP00000381008:D13407N;ENSP00000370338:D48N|.	ENSP00000370338:D48N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8863597|8863597	0.045000|0.045000	0.20229|0.20229	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.258000|1.258000	0.32944|0.32944	-0.029000|-0.029000	0.13827|0.13827	-3.921000|-3.921000	0.00016|0.00016	GAC|TGG	.	.	none		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002597	C	T	9002597	3	4	31	1	0	0	0	0	1	0	0	0	9973	855	30	2	3440	2	MUC16	19	9002597	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		9002597	50126386	99	22752										
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363610	22363610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttgtagggtttctctccagtAtgaattctcttatgttccat	7	8	2	1	rs201622264	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGTATGAATTCTCT	0.443																																					p.H303H		Atlas-SNP	.											ZNF676,rectum,carcinoma,0,2	ZNF676	146	2	0			c.T909C						scavenged	.						81	83	83					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223	exon3			TCCAGTATGAATT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.909T>C	19.37:g.22363610A>G		Somatic	75	10	0.133333		WXS	Illumina HiSeq	Phase_I	52	11	0.211538	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			A|0.793;G|0.207	0.207	strong		0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363610	A	G	22363610	2	3	31	1	0	0	0	0	0	0	0	1	18080	446	16	2		2	ZNF676	19	22363610	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	13361013	22363610	36765373	100	22753										
ZNF607	84775	hgsc.bcm.edu	37	chr19	38189064	38189064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgtatactaagttcatggctActattaaaagctttcccaca	5	9	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr19:38189064A>C	ENST00000355202.4	-	5	2563	c.1968T>G	c.(1966-1968)agT>agG	p.S656R	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.S655R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GTTCATGGCTACTATTAAAAG	0.393																																					p.S656R		Atlas-SNP	.											.	ZNF607	82	.	0			c.T1968G						PASS	.						106	103	104					19																	38189064		2203	4300	6503	SO:0001583	missense	84775	exon5			ATGGCTACTATTA	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1968T>G	19.37:g.38189064A>C	ENSP00000347338:p.Ser656Arg	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	188	8	0.0425532	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	7.766	0.706483	0.15239	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.28069	1.63;1.63	1.83	-3.66	0.04489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	N	0.11698	0.16	0.09310	N	1	B;B	0.26081	0.141;0.068	B;B	0.29077	0.098;0.062	T	0.26395	-1.0104	9	0.12430	T	0.62	.	0.6026	0.00747	0.2396:0.2281:0.3116:0.2206	.	656;655	Q96SK3;F5H141	ZN607_HUMAN;.	R	656;655	ENSP00000347338:S656R;ENSP00000438015:S655R	ENSP00000347338:S656R	S	-	3	2	ZNF607	42880904	0.000000	0.05858	0.000000	0.03702	0.929000	0.56500	-1.367000	0.02583	-2.253000	0.00698	0.260000	0.18958	AGT	.	.	none		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		C	38189064	A	C	38189064	3	2	31	1	0	0	0	0	1	0	0	0	18030	388	14	5	126	5	ZNF607	19	38189064	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	15825454	38189064	20939919	101	22754										
ZNF343	79175	hgsc.bcm.edu	37	chr20	2464182	2464182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	acaaggaggagtgatttccgActaaagcctcggccacactc	10	12	0	1	rs528685225	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527													A|||	5	0.000998403	0.003	0.0	5008	,	,		22125	0.0		0.0	False		,,,				2504	0.001				p.S475S		Atlas-SNP	.											ZNF343,NS,carcinoma,0,1	ZNF343	47	1	2	Substitution - coding silent(2)	lung(1)|kidney(1)	c.T1425C						scavenged	.						113	95	101					20																	2464182		2203	4300	6503	SO:0001819	synonymous_variant	79175	exon6			TTTCCGACTAAAG	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1425T>C	20.37:g.2464182A>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	85	3	0.0352941	NM_024325	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	CCDS13028.1																																																																																			.	.	none		0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		G	2464182	A	G	2464182	2	3	31	1	0	0	0	0	0	0	0	1	17855	272	10	2		2	ZNF343	20	2464182	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10		2464182	60561338	102	22755										
PLCB1	23236	hgsc.bcm.edu	37	chr20	8352096	8352096	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gagacacgccaaagctcccaAggtaggaggttgagtgttgt	14	8	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:8352096A>C	ENST00000338037.6	+	3	272	c.245A>C	c.(244-246)aAg>aCg	p.K82T	PLCB1_ENST00000378637.2_Splice_Site_p.K82T|PLCB1_ENST00000378641.3_Splice_Site_p.K82T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	82					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.K82T(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGCTCCCAAGGTAGGAGGT	0.448																																					p.E82A		Atlas-SNP	.											PLCB1_ENST00000378641,caecum,carcinoma,0,2	PLCB1	394	2	2	Substitution - Missense(2)	large_intestine(2)	c.A245C						PASS	.						157	127	137					20																	8352096		2203	4300	6503	SO:0001630	splice_region_variant	23236	exon3			CTCCCAAGGTAGG	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.246+1A>C	20.37:g.8352096A>C		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	86	5	0.0581395	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337731	0.81911	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.52	5.52	0.82312	.	0.058303	0.64402	D	0.000004	T	0.75774	0.3895	M	0.88979	2.995	0.80722	D	1	B;D;D	0.63880	0.048;0.993;0.993	B;P;D	0.74023	0.034;0.849;0.982	T	0.80830	-0.1207	10	0.87932	D	0	.	13.4657	0.61251	1.0:0.0:0.0:0.0	.	82;82;81	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	T	82;82;82;81	ENSP00000367908:K82T;ENSP00000338185:K82T;ENSP00000367904:K82T;ENSP00000384001:K81T	ENSP00000338185:K82T	K	+	2	0	PLCB1	8300096	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.240000	0.65378	2.216000	0.71823	0.533000	0.62120	AAG	.	.	none		0.448	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Missense_Mutation	C	8352096	A	C	8352096	5	2	31	1	0	0	0	0	0	0	1	0	12027	86	3	5	255	5	PLCB1	20	8352096	Splice_Site	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	5887914	8352096	54673424	103	22756										
JAG1	182	hgsc.bcm.edu	37	chr20	10620386	10620386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	attttggagttcttgttctcAtaatccttgatggggaccgt	10	7	2	1	rs1051419	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:10620386A>G	ENST00000254958.5	-	26	3932	c.3417T>C	c.(3415-3417)taT>taC	p.Y1139Y	JAG1_ENST00000423891.2_Silent_p.Y980Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1139					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.Y1139Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTTGTTCTCATAATCCTTGA	0.483									Alagille Syndrome				G|||	3569	0.71266	0.9289	0.6326	5008	,	,		19004	0.494		0.6481	False		,,,				2504	0.7689				p.Y1139Y		Atlas-SNP	.											JAG1_ENST00000254958,NS,carcinoma,0,1	JAG1	213	1	1	Substitution - coding silent(1)	stomach(1)	c.T3417C						scavenged	.	G		3962,444	214.8+/-234.0	1781,400,22	149	147	148		3417	-1.1	1	20	dbSNP_86	148	5496,3104	474.2+/-368.8	1737,2022,541	no	coding-synonymous	JAG1	NM_000214.2		3518,2422,563	GG,GA,AA		36.093,10.0772,27.2797		1139/1219	10620386	9458,3548	2203	4300	6503	SO:0001819	synonymous_variant	182	exon26	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GTTCTCATAATCC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3417T>C	20.37:g.10620386A>G		Somatic	484	0	0		WXS	Illumina HiSeq	Phase_I	468	6	0.0128205	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			G|0.694;C|0.000;A|0.306	0.694	strong		0.483	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		G	10620386	A	G	10620386	2	3	31	1	0	0	0	0	0	0	0	1	7934	224	8	2		2	JAG1	20	10620386	Silent	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	2268290	10620386	52405134	104	22757										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52193210	52193210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttttactcaaagaaattgccGggcaattgtgaagagccccc	9	10	1	3	rs369074794		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:52193210G>A	ENST00000371471.2	-	4	2518	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L	ZNF217_ENST00000302342.3_Missense_Mutation_p.P698L|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	698					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P698Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGAAATTGCCGGGCAATTGTG	0.428																																					p.P698L		Atlas-SNP	.											.	ZNF217	227	.	2	Substitution - Missense(2)	lung(2)	c.C2093T						PASS	.	G	LEU/PRO	0,4406		0,0,2203	74	83	80		2093	4.2	0	20		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF217	NM_006526.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	698/1049	52193210	1,13005	2203	4300	6503	SO:0001583	missense	7764	exon3			ATTGCCGGGCAAT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2093C>T	20.37:g.52193210G>A	ENSP00000360526:p.Pro698Leu	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	160	18	0.1125	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366604	0.24771	0.0	1.16E-4	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08984	3.03;3.03	5.18	4.22	0.49857	.	0.790776	0.11324	N	0.575710	T	0.06735	0.0172	L	0.34521	1.04	0.20196	N	0.999922	B	0.18166	0.026	B	0.08055	0.003	T	0.34378	-0.9831	10	0.10636	T	0.68	-6.4731	10.3081	0.43693	0.1521:0.0:0.8479:0.0	.	698	O75362	ZN217_HUMAN	L	698	ENSP00000360526:P698L;ENSP00000304308:P698L	ENSP00000304308:P698L	P	-	2	0	ZNF217	51626617	0.963000	0.33076	0.029000	0.17559	0.089000	0.18198	3.870000	0.56070	2.411000	0.81874	0.555000	0.69702	CCG	.	.	weak		0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		A	52193210	G	A	52193210	3	1	31	1	0	0	0	0	1	0	0	0	17769	1116	39	1	1061	1	ZNF217	20	52193210	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	41572824	52193210	10832310	105	22758										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52198348	52198348	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ttgcgagaggcctgcacaacTgcccttatttgtttctccaa	8	12	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:52198348T>A	ENST00000371471.2	-	2	1443	c.1018A>T	c.(1018-1020)Agt>Tgt	p.S340C	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.S340C			O75362	ZN217_HUMAN	zinc finger protein 217	340					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTGCACAACTGCCCTTATTT	0.542																																					p.S340C		Atlas-SNP	.											.	ZNF217	227	.	0			c.A1018T						PASS	.						126	128	128					20																	52198348		2203	4300	6503	SO:0001583	missense	7764	exon1			CACAACTGCCCTT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1018A>T	20.37:g.52198348T>A	ENSP00000360526:p.Ser340Cys	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	259	24	0.0926641	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	8.872	0.949551	0.18356	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10099	2.91;2.91	5.7	0.987	0.19790	.	0.778438	0.12010	N	0.507981	T	0.09686	0.0238	L	0.40543	1.245	0.09310	N	1	P	0.47106	0.89	B	0.40101	0.319	T	0.18935	-1.0321	10	0.66056	D	0.02	-9.5155	9.5173	0.39113	0.0:0.5469:0.0:0.4531	.	340	O75362	ZN217_HUMAN	C	340	ENSP00000360526:S340C;ENSP00000304308:S340C	ENSP00000304308:S340C	S	-	1	0	ZNF217	51631755	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.015000	0.13355	-0.056000	0.13221	-0.376000	0.06991	AGT	.	.	none		0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		A	52198348	T	A	52198348	3	1	31	1	0	0	0	0	1	0	0	0	17769	1580	55	5	2144	5	ZNF217	20	52198348	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	5138	52198348	10827172	106	22759										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52198483	52198483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cagctgccaagcctggaaggTggtgaacggatcgagctgag	16	9	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:52198483T>G	ENST00000371471.2	-	2	1308	c.883A>C	c.(883-885)Acc>Ccc	p.T295P	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.T295P			O75362	ZN217_HUMAN	zinc finger protein 217	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCTGGAAGGTGGTGAACGGA	0.532																																					p.T295P		Atlas-SNP	.											.	ZNF217	227	.	0			c.A883C						PASS	.						122	114	117					20																	52198483		2203	4300	6503	SO:0001583	missense	7764	exon1			GGAAGGTGGTGAA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.883A>C	20.37:g.52198483T>G	ENSP00000360526:p.Thr295Pro	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	155	10	0.0645161	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386055	0.82902	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10382	2.88;2.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06092	-1.0846	10	0.49607	T	0.09	-39.6624	15.6258	0.76855	0.0:0.0:0.0:1.0	.	295	O75362	ZN217_HUMAN	P	295	ENSP00000360526:T295P;ENSP00000304308:T295P	ENSP00000304308:T295P	T	-	1	0	ZNF217	51631890	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.585000	0.82584	2.170000	0.68504	0.482000	0.46254	ACC	.	.	none		0.532	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		G	52198483	T	G	52198483	3	3	31	1	0	0	0	0	1	0	0	0	17769	1696	59	5	2279	5	ZNF217	20	52198483	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	135	52198483	10827037	107	22760										
ADRM1	11047	hgsc.bcm.edu	37	chr20	60878686	60878686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ctctcggggcgcctccaacaAgtacttggtggagtttcggg	14	11	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:60878686A>G	ENST00000253003.2	+	2	108	c.62A>G	c.(61-63)aAg>aGg	p.K21R	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	21	Interaction with PSMD1.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCCTCCAACAAGTACTTGGTG	0.622																																					p.K21R		Atlas-SNP	.											.	ADRM1	28	.	0			c.A62G						PASS	.						78	86	83					20																	60878686		2203	4299	6502	SO:0001583	missense	11047	exon2			CCAACAAGTACTT	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.62A>G	20.37:g.60878686A>G	ENSP00000253003:p.Lys21Arg	Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	35	6	0.171429	NM_175573	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834980	0.71373	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	L	0.41632	1.29	0.80722	D	1	B;P	0.48350	0.018;0.909	B;D	0.63957	0.046;0.92	T	0.64622	-0.6364	9	0.39692	T	0.17	-25.6551	13.6872	0.62524	1.0:0.0:0.0:0.0	.	21;21	B4DMP7;Q16186	.;ADRM1_HUMAN	R	21	.	ENSP00000253003:K21R	K	+	2	0	ADRM1	60312081	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	7.101000	0.76997	1.707000	0.51288	0.459000	0.35465	AAG	.	.	none		0.622	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			G	60878686	A	G	60878686	3	3	31	1	0	0	0	0	1	0	0	0	345	72	3	3	64	3	ADRM1	20	60878686	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	8680203	60878686	2146834	108	22761										
ADRM1	11047	hgsc.bcm.edu	37	chr20	60878716	60878716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggagtttcgggcgggaaagaTgtccctgaaggggaccaccg	17	9	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr20:60878716T>G	ENST00000253003.2	+	2	138	c.92T>G	c.(91-93)aTg>aGg	p.M31R	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	31	Interaction with PSMD1.|PH.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCGGGAAAGATGTCCCTGAAG	0.587																																					p.M31R		Atlas-SNP	.											.	ADRM1	28	.	0			c.T92G						PASS	.						79	84	82					20																	60878716		2203	4300	6503	SO:0001583	missense	11047	exon2			GAAAGATGTCCCT	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.92T>G	20.37:g.60878716T>G	ENSP00000253003:p.Met31Arg	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	37	7	0.189189	NM_175573	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849175	0.71603	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.90145	3.09	0.80722	D	1	D;P	0.65815	0.995;0.935	D;D	0.76575	0.988;0.971	D	0.87579	0.2483	9	0.87932	D	0	-22.7347	13.6872	0.62524	0.0:0.0:0.0:1.0	.	31;31	B4DMP7;Q16186	.;ADRM1_HUMAN	R	31	.	ENSP00000253003:M31R	M	+	2	0	ADRM1	60312111	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	7.676000	0.84012	1.707000	0.51288	0.459000	0.35465	ATG	.	.	none		0.587	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			G	60878716	T	G	60878716	3	3	31	1	0	0	0	0	1	0	0	0	345	1464	51	5	94	5	ADRM1	20	60878716	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	30	60878716	2146804	109	22762										
SIM2	6493	hgsc.bcm.edu	37	chr21	38072069	38072069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gaaggagaagtccaagaatgCggccaagaccaggagggaga	16	7	0	4			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chr21:38072069C>T	ENST00000290399.6	+	1	636	c.23C>T	c.(22-24)gCg>gTg	p.A8V	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Missense_Mutation_p.A8V	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	8	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TCCAAGAATGCGGCCAAGACC	0.657																																					p.A8V		Atlas-SNP	.											.	SIM2	55	.	0			c.C23T						PASS	.						120	94	103					21																	38072069		2202	4300	6502	SO:0001583	missense	6493	exon1			AGAATGCGGCCAA		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.23C>T	21.37:g.38072069C>T	ENSP00000290399:p.Ala8Val	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	92	5	0.0543478	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244806	0.95272	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;D	0.97850	2.88;-4.57	4.41	3.52	0.40303	Helix-loop-helix DNA-binding (4);	0.056007	0.64402	N	0.000001	D	0.98836	0.9607	M	0.92367	3.3	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99449	1.0940	10	0.87932	D	0	.	12.3321	0.55046	0.0:0.9181:0.0:0.0819	.	8;8	Q14190;Q14190-2	SIM2_HUMAN;.	V	8	ENSP00000290399:A8V;ENSP00000404176:A8V	ENSP00000290399:A8V	A	+	2	0	SIM2	36993939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.443000	0.80521	1.084000	0.41184	0.563000	0.77884	GCG	.	.	none		0.657	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		T	38072069	C	T	38072069	3	4	31	1	0	0	0	0	1	0	0	0	14324	768	27	1	25	1	SIM2	21	38072069	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		38072069	10057826	110	22763										
TMSB4X	7114	hgsc.bcm.edu	37	chrX	12994394	12994394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cgcaaccatgtctgacaaacCcgatatggctgagatcgaga	10	11	1	3			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:12994394C>G	ENST00000380635.1	+	2	230	c.14C>G	c.(13-15)cCc>cGc	p.P5R	TMSB4X_ENST00000380636.1_Missense_Mutation_p.P5R|TMSB4X_ENST00000380633.1_Missense_Mutation_p.P5R|TMSB4X_ENST00000451311.2_Missense_Mutation_p.P5R			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	5					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						TCTGACAAACCCGATATGGCT	0.542																																					p.P5R		Atlas-SNP	.											.	TMSB4X	3	.	0			c.C14G						PASS	.						66	64	65					X																	12994394		2203	4300	6503	SO:0001583	missense	7114	exon2			ACAAACCCGATAT		CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.14C>G	X.37:g.12994394C>G	ENSP00000370009:p.Pro5Arg	Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	323	20	0.0619195	NM_021109	P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	ENST00000380635.1	37	CCDS35202.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023167	0.75275	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000010	T	0.68476	0.3005	.	.	.	0.58432	D	0.99999	P	0.49307	0.922	P	0.51895	0.683	T	0.74685	-0.3582	9	0.87932	D	0	-6.1801	16.7451	0.85470	0.0:1.0:0.0:0.0	.	5	P62328	TYB4_HUMAN	R	5	ENSP00000414376:P5R;ENSP00000370010:P5R;ENSP00000370009:P5R;ENSP00000370007:P5R	ENSP00000370007:P5R	P	+	2	0	TMSB4X	12904315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.929000	0.75852	2.064000	0.61679	0.600000	0.82982	CCC	.	.	none		0.542	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055779.1	NM_021109		G	12994394	C	G	12994394	3	3	31	1	0	0	0	0	1	0	0	0	16254	623	22	4	16	4	TMSB4X	23	12994394	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10		12994394	142276166	111	22764										
DCAF8L2	347442	hgsc.bcm.edu	37	chrX	27766417	27766417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gatttaagggacacagaaatAataccacagtcaaaggtgtt	9	6	1	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:27766417A>G	ENST00000451261.2	+	5	1804	c.1405A>G	c.(1405-1407)Aat>Gat	p.N469D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	469										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ACACAGAAATAATACCACAGT	0.443																																					p.N469D		Atlas-SNP	.											.	DCAF8L2	79	.	0			c.A1405G						PASS	.						84	56	65					X																	27766417		692	1591	2283	SO:0001583	missense	347442	exon1			AGAAATAATACCA		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1405A>G	X.37:g.27766417A>G	ENSP00000462745:p.Asn469Asp	Somatic	265	0	0		WXS	Illumina HiSeq	Phase_I	227	14	0.061674	NM_001136533	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.	.	none		0.443	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		G	27766417	A	G	27766417	3	3	31	1	0	0	0	0	1	0	0	0	4278	362	13	2	1407	2	DCAF8L2	23	27766417	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	14772023	27766417	127504143	112	22765										
GPR82	27197	hgsc.bcm.edu	37	chrX	41586752	41586752	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgctagaaaactatgcatttAcatatggggagttgtactgg	11	5	0	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:41586752A>C	ENST00000302548.4	+	3	713	c.473A>C	c.(472-474)tAc>tCc	p.Y158S	CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATGCATTTACATATGGGGA	0.408																																					p.Y158S		Atlas-SNP	.											.	GPR82	52	.	0			c.A473C						PASS	.						59	58	58					X																	41586752		2202	4299	6501	SO:0001583	missense	27197	exon3			GCATTTACATATG	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.473A>C	X.37:g.41586752A>C	ENSP00000303549:p.Tyr158Ser	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	208	18	0.0865385	NM_080817	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	A	4.819	0.152221	0.09185	.	.	ENSG00000171657	ENST00000302548	T	0.36340	1.26	5.73	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.469762	0.19219	N	0.119739	T	0.33411	0.0862	L	0.34521	1.04	0.09310	N	1	P	0.51933	0.949	P	0.54815	0.761	T	0.08289	-1.0729	10	0.22706	T	0.39	-4.4926	4.8507	0.13535	0.5399:0.0:0.0899:0.3702	.	158	Q96P67	GPR82_HUMAN	S	158	ENSP00000303549:Y158S	ENSP00000303549:Y158S	Y	+	2	0	GPR82	41471696	0.014000	0.17966	0.138000	0.22173	0.818000	0.46254	0.717000	0.25851	0.766000	0.33244	0.486000	0.48141	TAC	.	.	none		0.408	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		C	41586752	A	C	41586752	3	2	31	1	0	0	0	0	1	0	0	0	6712	391	14	5	475	5	GPR82	23	41586752	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	13820335	41586752	113683808	113	22766			1	100		2	2	24	A		9.063859e-05
GPR82	27197	hgsc.bcm.edu	37	chrX	41586775	41586775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tatggggagttgtactgggcAtaatcattccagttaccgta	11	7	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:41586775A>G	ENST00000302548.4	+	3	736	c.496A>G	c.(496-498)Ata>Gta	p.I166V	CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TGTACTGGGCATAATCATTCC	0.408																																					p.I166V		Atlas-SNP	.											.	GPR82	52	.	0			c.A496G						PASS	.						69	67	67					X																	41586775		2203	4300	6503	SO:0001583	missense	27197	exon3			CTGGGCATAATCA	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.496A>G	X.37:g.41586775A>G	ENSP00000303549:p.Ile166Val	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	192	16	0.0833333	NM_080817	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	A	0.372	-0.933289	0.02359	.	.	ENSG00000171657	ENST00000302548	T	0.72051	-0.62	5.62	-6.3	0.02007	GPCR, rhodopsin-like superfamily (1);	0.298098	0.25604	N	0.029527	T	0.35770	0.0943	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46965	-0.9153	10	0.02654	T	1	-6.7524	9.1887	0.37187	0.2148:0.3218:0.4634:0.0	.	166	Q96P67	GPR82_HUMAN	V	166	ENSP00000303549:I166V	ENSP00000303549:I166V	I	+	1	0	GPR82	41471719	0.000000	0.05858	0.015000	0.15790	0.245000	0.25701	-2.276000	0.01161	-1.138000	0.02884	-0.314000	0.08810	ATA	.	.	none		0.408	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		G	41586775	A	G	41586775	3	3	31	1	0	0	0	0	1	0	0	0	6712	217	8	2	498	2	GPR82	23	41586775	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	23	41586775	113683785	114	22767			1	100		2	2	24	A		9.063859e-05
RBM10	8241	hgsc.bcm.edu	37	chrX	47045745	47045745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tgggctggaaagagggcagcGgcctgggccgcaagaagcag	19	9	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:47045745G>A	ENST00000377604.3	+	23	3368	c.2626G>A	c.(2626-2628)Ggc>Agc	p.G876S	RBM10_ENST00000329236.7_Missense_Mutation_p.G798S|RBM10_ENST00000345781.6_Missense_Mutation_p.G799S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	876	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGAGGGCAGCGGCCTGGGCCG	0.647																																					p.G941S	Melanoma(171;120 2705 19495 39241)	Atlas-SNP	.											.	RBM10	117	.	0			c.G2821A						PASS	.						56	53	54					X																	47045745		2199	4292	6491	SO:0001583	missense	8241	exon23			GGCAGCGGCCTGG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2626G>A	X.37:g.47045745G>A	ENSP00000366829:p.Gly876Ser	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	204	16	0.0784314	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006668	0.93287	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.80994	-1.44;-1.44;-1.44	5.53	5.53	0.82687	D111/G-patch (3);	0.000000	0.56097	D	0.000033	D	0.91442	0.7299	M	0.90425	3.115	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.998	D	0.93001	0.6423	10	0.87932	D	0	-22.4447	16.0209	0.80493	0.0:0.0:1.0:0.0	.	799;941;875;798;876	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	S	876;798;799	ENSP00000366829:G876S;ENSP00000328848:G798S;ENSP00000329659:G799S	ENSP00000328848:G798S	G	+	1	0	RBM10	46930689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.359000	0.97115	2.471000	0.83476	0.600000	0.82982	GGC	.	.	none		0.647	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		A	47045745	G	A	47045745	3	1	31	1	0	0	0	0	1	0	0	0	13111	1116	39	1	2712	1	RBM10	23	47045745	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	5458970	47045745	108224815	115	22768										
FAM123B	139285	hgsc.bcm.edu	37	chrX	63412763	63412763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tggagcctgtctccaaagccCcatgggcactctgagagctg	12	13	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:63412763C>A	ENST00000330258.3	-	2	676	c.404G>T	c.(403-405)gGg>gTg	p.G135V	AMER1_ENST00000403336.1_Missense_Mutation_p.G135V|AMER1_ENST00000374869.3_Missense_Mutation_p.G135V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	135					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTCCAAAGCCCCATGGGCACT	0.547																																					p.G135V		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.G404T						PASS	.						52	48	49					X																	63412763		2203	4300	6503	SO:0001583	missense	139285	exon2			AAAGCCCCATGGG	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.404G>T	X.37:g.63412763C>A	ENSP00000329117:p.Gly135Val	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	125	10	0.08	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181715	0.21787	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18338	2.22;2.22;2.22	4.59	2.79	0.32731	.	0.360426	0.27807	N	0.017766	T	0.10637	0.0260	L	0.43152	1.355	0.20703	N	0.999866	B	0.23854	0.092	B	0.23574	0.047	T	0.26467	-1.0102	10	0.17369	T	0.5	-4.6723	1.1464	0.01776	0.1844:0.4399:0.1755:0.2003	.	135	Q5JTC6	F123B_HUMAN	V	135	ENSP00000364003:G135V;ENSP00000329117:G135V;ENSP00000384722:G135V	ENSP00000329117:G135V	G	-	2	0	FAM123B	63329488	0.000000	0.05858	0.010000	0.14722	0.766000	0.43426	0.351000	0.20096	0.641000	0.30601	0.600000	0.82982	GGG	.	.	none		0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63412763	C	A	63412763	3	1	31	1	0	0	0	0	1	0	0	0	5423	623	22	4	3007	4	FAM123B	23	63412763	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	16367018	63412763	91857797	116	22769										
ATRX	546	hgsc.bcm.edu	37	chrX	76907651	76907651	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cctctcagcaatacgttttcGtctctcttcctcttccttaa	3	15	4	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:76907651G>A	ENST00000373344.5	-	15	4724	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1466*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATACGTTTTCGTCTCTCTTCC	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.R1504X		Atlas-SNP	.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833	.	1	Unknown(1)	bone(1)	c.C4510T						PASS	.						346	308	321					X																	76907651		2203	4300	6503	SO:0001587	stop_gained	546	exon15			GTTTTCGTCTCTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4510C>T	X.37:g.76907651G>A	ENSP00000362441:p.Arg1504*	Somatic	303	0	0		WXS	Illumina HiSeq	Phase_I	255	15	0.0588235	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	46	12.165867	0.99642	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	4.9	2.85	0.33270	.	0.066609	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0156	10.5199	0.44912	0.0:0.0:0.3258:0.6742	.	.	.	.	X	1504;1466	.	ENSP00000362441:R1504X	R	-	1	2	ATRX	76794307	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.678000	0.46900	0.817000	0.34445	0.594000	0.82650	CGA	.	.	none		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76907651	G	A	76907651	4	1	31	1	0	0	0	0	0	1	0	0	1208	1153	40	1	3052	1	ATRX	23	76907651	Nonsense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	13494888	76907651	78362909	117	22770										
TBC1D8B	54885	hgsc.bcm.edu	37	chrX	106116883	106116883	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	tcattatatcaagccattgcTgttgtaaccagccttttact	5	10	2	0	rs140391999	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:106116883T>A	ENST00000357242.5	+	21	3225	c.3051T>A	c.(3049-3051)gcT>gcA	p.A1017A	TBC1D8B_ENST00000276175.3_Silent_p.A1011A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1017							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGCCATTGCTGTTGTAACCA	0.403																																					p.A1017A		Atlas-SNP	.											.	TBC1D8B	181	.	0			c.T3051A						PASS	.						126	122	123					X																	106116883		2203	4300	6503	SO:0001819	synonymous_variant	54885	exon21			CATTGCTGTTGTA	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3051T>A	X.37:g.106116883T>A		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	236	20	0.0847458	NM_017752	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	CCDS14522.1																																																																																			T|0.999;C|0.001	.	alt		0.403	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106116883	T	A	106116883	2	1	31	1	0	0	0	0	0	0	0	1	15623	1567	55	5		5	TBC1D8B	23	106116883	Silent	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	29209232	106116883	49153677	118	22771										
ATG4A	115201	hgsc.bcm.edu	37	chrX	107396261	107396261	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	attagttcagaaacatccatCacactggcctccctttgtac	5	13	2	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:107396261C>T	ENST00000372232.3	+	12	1229	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	ATG4A_ENST00000372254.3_Missense_Mutation_p.S333L|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000545696.1_Missense_Mutation_p.S218L|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.S295L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	357					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAACATCCATCACACTGGCCT	0.428																																					p.S357L		Atlas-SNP	.											.	ATG4A	68	.	0			c.C1070T						PASS	.						72	58	63					X																	107396261		2203	4300	6503	SO:0001583	missense	115201	exon12			ATCCATCACACTG	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"AUT-like 2, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog A (S. cerevisiae)", "ATG4 autophagy related 4 homolog A (S. cerevisiae)"	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.1070C>T	X.37:g.107396261C>T	ENSP00000361306:p.Ser357Leu	Somatic	565	0	0		WXS	Illumina HiSeq	Phase_I	469	33	0.0703625	NM_052936	A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323638	0.60634	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696	T;T;T;T	0.46819	0.86;0.88;0.87;0.89	5.88	5.88	0.94601	.	0.358447	0.29080	N	0.013207	T	0.42517	0.1206	L	0.41824	1.3	0.80722	D	1	B;B;B	0.25169	0.119;0.001;0.002	B;B;B	0.19666	0.026;0.002;0.002	T	0.17776	-1.0358	10	0.25751	T	0.34	-2.0371	19.2176	0.93783	0.0:1.0:0.0:0.0	.	218;295;357	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	L	357;295;333;218	ENSP00000361306:S357L;ENSP00000298131:S295L;ENSP00000361328:S333L;ENSP00000438936:S218L	ENSP00000298131:S295L	S	+	2	0	ATG4A	107282917	0.998000	0.40836	0.986000	0.45419	0.985000	0.73830	6.135000	0.71696	2.489000	0.83994	0.600000	0.82982	TCA	.	.	none		0.428	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		T	107396261	C	T	107396261	3	4	31	1	0	0	0	0	1	0	0	0	1096	838	29	2	1116	2	ATG4A	23	107396261	Missense_Mutation	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	1279378	107396261	47874299	119	22772										
IL13RA1	3597	hgsc.bcm.edu	37	chrX	117907928	117907928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	caatcatagtactcctgcttTacctaaaaaggtaaggtagc	7	9	1	0			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:117907928T>A	ENST00000371666.3	+	9	1163	c.1096T>A	c.(1096-1098)Tac>Aac	p.Y366N	IL13RA1_ENST00000371637.3_Missense_Mutation_p.Y165N	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	366					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ACTCCTGCTTTACCTAAAAAG	0.428																																					p.Y366N		Atlas-SNP	.											.	IL13RA1	41	.	0			c.T1096A						PASS	.						178	150	160					X																	117907928		2203	4300	6503	SO:0001583	missense	3597	exon9			CTGCTTTACCTAA	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1096T>A	X.37:g.117907928T>A	ENSP00000360730:p.Tyr366Asn	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	92	6	0.0652174	NM_001560	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143297	0.57044	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.90732	-2.72	5.54	4.37	0.52481	.	0.089367	0.49305	D	0.000160	D	0.93504	0.7927	M	0.72894	2.215	0.40981	D	0.984779	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	D	0.92830	0.6279	10	0.87932	D	0	-17.3933	7.6269	0.28218	0.0:0.0979:0.0:0.9021	.	366;366	Q5JSL4;P78552	.;I13R1_HUMAN	N	366;165	ENSP00000360730:Y366N	ENSP00000360700:Y165N	Y	+	1	0	IL13RA1	117791956	1.000000	0.71417	0.856000	0.33681	0.596000	0.36781	4.240000	0.58701	0.834000	0.34852	0.439000	0.28862	TAC	.	.	none		0.428	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		A	117907928	T	A	117907928	3	1	31	1	0	0	0	0	1	0	0	0	7629	1754	61	5	1130	5	IL13RA1	23	117907928	Missense_Mutation	SNP	T	TCGA-GS-A9TV-01A-11D-A382-10	10511667	117907928	37362632	120	22773										
ELF4	2000	hgsc.bcm.edu	37	chrX	129201410	129201410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	ggaggcccattggtcagcacCgtggtcagtgggatcgtctg	16	10	3	0	rs369363653		TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:129201410C>T	ENST00000308167.5	-	9	1657	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	ELF4_ENST00000335997.7_Silent_p.T426T	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGTCAGCACCGTGGTCAGTG	0.597			T	ERG	AML																																p.T426T		Atlas-SNP	.		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4	67	.	0			c.G1278A						PASS	.		,	1,3834		0,0,1,1632,570	66	62	63		1278,1278	-0.1	1	X		63	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	ELF4	NM_001127197.1,NM_001421.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	426/664,426/664	129201410	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2000	exon9			CAGCACCGTGGTC	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1278G>A	X.37:g.129201410C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	146	9	0.0616438	NM_001421		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																			.	.	weak		0.597	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		T	129201410	C	T	129201410	2	4	31	1	0	0	0	0	0	0	0	1	5056	639	23	1		1	ELF4	23	129201410	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	11293482	129201410	26069150	121	22774										
HTATSF1	27336	hgsc.bcm.edu	37	chrX	135593333	135593333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gctgccccaaaagagggtttGaaggcagctgctcccaaaaa	11	11	0	2			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:135593333G>A	ENST00000218364.4	+	9	1603	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E477K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	477	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAGAGGGTTTGAAGGCAGCTG	0.443																																					p.E477K		Atlas-SNP	.											.	HTATSF1	66	.	0			c.G1429A						PASS	.						46	50	49					X																	135593333		2193	4279	6472	SO:0001583	missense	27336	exon10			GGGTTTGAAGGCA	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1429G>A	X.37:g.135593333G>A	ENSP00000218364:p.Glu477Lys	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	139	10	0.0719424	NM_001163280	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253360	0.10185	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04360	3.64;3.64	4.38	2.61	0.31194	.	0.642678	0.16646	N	0.205430	T	0.03477	0.0100	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40440	-0.9563	10	0.41790	T	0.15	-2.2713	5.8919	0.18917	0.3322:0.0:0.6678:0.0	.	477	O43719	HTSF1_HUMAN	K	477	ENSP00000442699:E477K;ENSP00000218364:E477K	ENSP00000218364:E477K	E	+	1	0	HTATSF1	135420999	0.007000	0.16637	0.001000	0.08648	0.006000	0.05464	1.430000	0.34914	0.607000	0.29982	0.523000	0.50628	GAA	.	.	none		0.443	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		A	135593333	G	A	135593333	3	1	31	1	0	0	0	0	1	0	0	0	7433	1291	45	2	1463	2	HTATSF1	23	135593333	Missense_Mutation	SNP	G	TCGA-GS-A9TV-01A-11D-A382-10	6391923	135593333	19677227	122	22775										
VMA21	203547	hgsc.bcm.edu	37	chrX	150573449	150573449	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	gctattgttgcagtggtcgcCgtccatgtggtgctggccct	14	11	0	0	rs139323488	byFrequency	TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:150573449C>G	ENST00000330374.6	+	3	330	c.225C>G	c.(223-225)gcC>gcG	p.A75A	VMA21_ENST00000370361.1_Silent_p.A130A|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						CAGTGGTCGCCGTCCATGTGG	0.458																																					p.A75A		Atlas-SNP	.											.	VMA21	17	.	0			c.C225G						PASS	.						137	108	118					X																	150573449		2203	4300	6503	SO:0001819	synonymous_variant	203547	exon3			GGTCGCCGTCCAT	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"myopathy with excessive autophagy"	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.225C>G	X.37:g.150573449C>G		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	179	11	0.0614525	NM_001017980		Silent	SNP	ENST00000330374.6	37	CCDS35430.1																																																																																			C|0.996;T|0.004	.	alt		0.458	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		G	150573449	C	G	150573449	2	3	31	1	0	0	0	0	0	0	0	1	17172	639	23	4		4	VMA21	23	150573449	Silent	SNP	C	TCGA-GS-A9TV-01A-11D-A382-10	14980116	150573449	4697111	123	22776										
F8	2157	hgsc.bcm.edu	37	chrX	154221377	154221377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0245901639344262	3	1	0.431099575271354	0	0.521329718932801	0.166666666666667	0.427083333333334	0	cttccaccagggaagactttAtcatcttctttctccctttg	5	13	4	1			TCGA-GS-A9TV-01A-11D-A382-10	TCGA-GS-A9TV-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	856d7068-5d31-4bc0-b50c-e02ed89ced3f	a592e794-fb42-4d16-95b3-c2059390b14c	g.chrX:154221377A>T	ENST00000360256.4	-	4	635	c.435T>A	c.(433-435)gaT>gaA	p.D145E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	145	F5/8 type A 1.|Plastocyanin-like 1.		D -> H (in HEMA; moderate). {ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.D145D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAAGACTTTATCATCTTCTT	0.423																																					p.D145E		Atlas-SNP	.											.	F8	646	.	2	Substitution - coding silent(2)	endometrium(2)	c.T435A						PASS	.						228	210	217					X																	154221377		2203	4300	6503	SO:0001583	missense	2157	exon4			GACTTTATCATCT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.435T>A	X.37:g.154221377A>T	ENSP00000353393:p.Asp145Glu	Somatic	320	0	0		WXS	Illumina HiSeq	Phase_I	231	16	0.0692641	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513344	0.64522	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99462	-5.43;-5.43;-5.94	5.35	-1.68	0.08212	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.145374	0.64402	D	0.000012	D	0.99290	0.9752	M	0.82433	2.59	0.23550	N	0.997433	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99628	1.0985	10	0.87932	D	0	-6.3892	9.7796	0.40640	0.4251:0.0:0.5749:0.0	.	110;145	B1B0G8;P00451	.;FA8_HUMAN	E	145;110;139	ENSP00000353393:D145E;ENSP00000409446:D110E;ENSP00000389153:D139E	ENSP00000353393:D145E	D	-	3	2	F8	153874571	0.337000	0.24766	0.482000	0.27366	0.727000	0.41649	0.869000	0.27996	-0.449000	0.07117	-0.520000	0.04383	GAT	.	.	none		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154221377	A	T	154221377	3	4	31	1	0	0	0	0	1	0	0	0	5350	446	16	5	6740	5	F8	23	154221377	Missense_Mutation	SNP	A	TCGA-GS-A9TV-01A-11D-A382-10	3647928	154221377	1049183	124	22777										
PER3	8863	hgsc.bcm.edu	37	chr1	7890024	7890024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtccacaggatcgcctcccaTgaagaatccatcccatccta	6	16	0	2	rs201662971|rs57875989		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:7890024T>G	ENST00000361923.2	+	18	3165	c.2990T>G	c.(2989-2991)aTg>aGg	p.M997R	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.M1006R	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	997	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.M997R(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCTCCCATGAAGAATCCA	0.582																																					p.M997R		Atlas-SNP	.											PER3,NS,carcinoma,0,3	PER3	95	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.T2990G						scavenged	.						85	70	75					1																	7890024		2001	3894	5895	SO:0001583	missense	8863	exon18			CTCCCATGAAGAA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2990T>G	1.37:g.7890024T>G	ENSP00000355031:p.Met997Arg	Somatic	114	6	0.0526316		WXS	Illumina HiSeq	Phase_I	86	6	0.0697674	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.321421	0.01320	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14640	2.49;2.49	.	.	.	Period circadian-like, C-terminal (1);	31.945600	0.01768	N	0.031022	T	0.04861	0.0131	N	0.04508	-0.205	0.09310	N	1	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	0.25152	-1.0140	8	0.11485	T	0.65	.	.	.	.	.	997;1006;1006;997	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	R	1006;997	ENSP00000366755:M1006R;ENSP00000355031:M997R	ENSP00000355031:M997R	M	+	2	0	PER3	7812611	0.004000	0.15560	0.012000	0.15200	0.013000	0.08279	-1.043000	0.03535	-1.402000	0.02056	-1.459000	0.01027	ATG	.	.	weak		0.582	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890024	T	G	7890024	3	3	32	1	0	0	0	0	1	0	0	0	11731	1464	51	5	3060	5	PER3	1	7890024	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10		7890024	241360597	1	22778										
SRM	6723	hgsc.bcm.edu	37	chr1	11115065	11115065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aggcggcgcggtgcacgtcgGagttgtagtacttcagctgc	16	10	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:11115065G>C	ENST00000376957.2	-	7	922	c.842C>G	c.(841-843)tCc>tGc	p.S281C		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	281					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	GTGCACGTCGGAGTTGTAGTA	0.682																																					p.S281C		Atlas-SNP	.											SRM,NS,carcinoma,+1,1	SRM	18	1	0			c.C842G						PASS	.						41	44	43					1																	11115065		2203	4300	6503	SO:0001583	missense	6723	exon7			ACGTCGGAGTTGT	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.842C>G	1.37:g.11115065G>C	ENSP00000366156:p.Ser281Cys	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	118	20	0.169492	NM_003132	B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357565	0.82243	.	.	ENSG00000116649	ENST00000376957	T	0.77098	-1.07	5.29	4.38	0.52667	.	0.244273	0.42821	D	0.000659	D	0.87297	0.6142	M	0.90483	3.12	0.54753	D	0.99998	D	0.71674	0.998	P	0.57101	0.813	D	0.89582	0.3821	10	0.87932	D	0	.	12.9435	0.58359	0.0784:0.0:0.9216:0.0	.	281	P19623	SPEE_HUMAN	C	281	ENSP00000366156:S281C	ENSP00000366156:S281C	S	-	2	0	SRM	11037652	1.000000	0.71417	0.225000	0.23894	0.864000	0.49448	9.099000	0.94207	1.226000	0.43582	0.561000	0.74099	TCC	.	.	none		0.682	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11115065	G	C	11115065	3	2	32	1	0	0	0	0	1	0	0	0	15150	1174	41	4	74	4	SRM	1	11115065	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3225041	11115065	238135556	2	22779										
CTRC	11330	hgsc.bcm.edu	37	chr1	15771170	15771170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggatcacgccacgtgctccaGgattgactggtggggcttca	14	11	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:15771170G>A	ENST00000375949.4	+	6	589	c.563G>A	c.(562-564)aGg>aAg	p.R188K	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	188	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTGCTCCAGGATTGACTGG	0.612																																					p.R188K		Atlas-SNP	.											.	CTRC	28	.	0			c.G563A						PASS	.						82	75	77					1																	15771170		2203	4300	6503	SO:0001583	missense	11330	exon6			GCTCCAGGATTGA	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.563G>A	1.37:g.15771170G>A	ENSP00000365116:p.Arg188Lys	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	101	10	0.0990099	NM_007272	A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	CCDS156.1	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881497	0.02530	.	.	ENSG00000162438	ENST00000375949	D	0.88818	-2.43	5.13	-1.03	0.10102	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.672011	0.15148	N	0.277902	T	0.76666	0.4019	N	0.26162	0.8	0.09310	N	0.999999	B	0.06786	0.001	B	0.15484	0.013	T	0.59553	-0.7433	10	0.20519	T	0.43	-10.5099	5.303	0.15788	0.5736:0.0:0.2879:0.1384	.	188	Q99895	CTRC_HUMAN	K	188	ENSP00000365116:R188K	ENSP00000365116:R188K	R	+	2	0	CTRC	15643757	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.177000	0.16801	-0.046000	0.13446	-0.367000	0.07326	AGG	.	.	none		0.612	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		A	15771170	G	A	15771170	3	1	32	1	0	0	0	0	1	0	0	0	4027	1000	35	2	585	2	CTRC	1	15771170	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	4656105	15771170	233479451	3	22780										
KIAA0090	23065	hgsc.bcm.edu	37	chr1	19559222	19559222	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggcttgacattgggtagatActgtttccacaggatggtgc	13	7	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:19559222A>T	ENST00000477853.1	-	15	1720	c.1678T>A	c.(1678-1680)Tat>Aat	p.Y560N	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.Y538N|EMC1_ENST00000375199.3_Missense_Mutation_p.Y559N	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	560						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TTGGGTAGATACTGTTTCCAC	0.473																																					p.Y560N		Atlas-SNP	.											.	.	.	.	0			c.T1678A						PASS	.						179	176	177					1																	19559222		2203	4300	6503	SO:0001583	missense	23065	exon15			GTAGATACTGTTT		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1678T>A	1.37:g.19559222A>T	ENSP00000420608:p.Tyr560Asn	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	162	43	0.265432	NM_015047	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.347263|4.347263	0.82022|0.82022	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.24723	.|1.85;1.85;1.84	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49660|0.49660	0.1570|0.1570	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.981;0.991;0.999;0.999	.|D;D;D;D	.|0.71656	.|0.923;0.947;0.974;0.942	T|T	0.42515|0.42515	-0.9447|-0.9447	5|10	.|0.27785	.|T	.|0.31	-13.0003|-13.0003	15.2191|15.2191	0.73296|0.73296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|538;559;559;560	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	E|N	293|560;559;538	.|ENSP00000420608:Y560N;ENSP00000364345:Y559N;ENSP00000364354:Y538N	.|ENSP00000364345:Y559N	V|Y	-|-	2|1	0|0	KIAA0090|KIAA0090	19431809|19431809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.711000|8.711000	0.91396|0.91396	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	GTA|TAT	.	.	none		0.473	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19559222	A	T	19559222	3	4	32	1	0	0	0	0	1	0	0	0	8153	391	14	5	1339	5	KIAA0090	1	19559222	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	3788052	19559222	229691399	4	22781										
PINK1	65018	hgsc.bcm.edu	37	chr1	20975644	20975644	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gccgcagctaccaagaggctCagctacctgcactgcccgag	11	16	1	1	rs45499196		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:20975644C>T	ENST00000321556.4	+	7	1502	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAAGAGGCTCAGCTACCTGC	0.617																																					p.Q470X	Esophageal Squamous(145;853 1803 8146 34412 35011)	Atlas-SNP	.											.	PINK1	37	.	0			c.C1408T						PASS	.						61	54	56					1																	20975644		2203	4300	6503	SO:0001587	stop_gained	65018	exon7			GAGGCTCAGCTAC	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1408C>T	1.37:g.20975644C>T	ENSP00000364204:p.Gln470*	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	148	40	0.27027	NM_032409	Q8N6T9|Q8NBU3|Q96DE4	Nonsense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	38	6.772314	0.97829	.	.	ENSG00000158828	ENST00000321556	.	.	.	6.17	6.17	0.99709	.	0.054055	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.4969	16.3795	0.83443	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000364204:Q470X	Q	+	1	0	PINK1	20848231	0.999000	0.42202	0.999000	0.59377	0.690000	0.40134	3.349000	0.52217	2.941000	0.99782	0.655000	0.94253	CAG	.	.	none		0.617	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		T	20975644	C	T	20975644	4	4	32	1	0	0	0	0	0	1	0	0	11932	827	29	2	1434	2	PINK1	1	20975644	Nonsense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1416422	20975644	228274977	5	22782										
ZBTB40	9923	hgsc.bcm.edu	37	chr1	22838349	22838349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agagaaagaggcttcagcctCcccagaccctgccaagaaga	10	13	1	5			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:22838349C>T	ENST00000375647.4	+	11	2390	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S728F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S616F	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	728					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTTCAGCCTCCCCAGACCCT	0.542																																					p.S728F		Atlas-SNP	.											.	ZBTB40	87	.	0			c.C2183T						PASS	.						62	57	59					1																	22838349		2203	4300	6503	SO:0001583	missense	9923	exon12			CAGCCTCCCCAGA	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2183C>T	1.37:g.22838349C>T	ENSP00000364798:p.Ser728Phe	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	104	33	0.317308	NM_001083621	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591720	0.46214	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.76060	-0.99;-0.99;-0.99	5.73	5.73	0.89815	.	0.117441	0.38720	N	0.001590	D	0.84488	0.5483	M	0.65677	2.01	0.35211	D	0.775199	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	D	0.88729	0.3235	10	0.66056	D	0.02	-19.9926	15.4065	0.74884	0.0:1.0:0.0:0.0	.	616;728	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	728;728;616	ENSP00000384527:S728F;ENSP00000364798:S728F;ENSP00000363782:S616F	ENSP00000363782:S616F	S	+	2	0	ZBTB40	22710936	0.984000	0.35163	1.000000	0.80357	0.562000	0.35680	1.157000	0.31724	2.693000	0.91896	0.655000	0.94253	TCC	.	.	none		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22838349	C	T	22838349	3	4	32	1	0	0	0	0	1	0	0	0	17539	855	30	2	2221	2	ZBTB40	1	22838349	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1862705	22838349	226412272	6	22783										
RUNX3	864	hgsc.bcm.edu	37	chr1	25256143	25256143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagcacggagcagaggaagtTggggctgtcggtgcgcacga	18	9	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:25256143T>A	ENST00000308873.6	-	1	225	c.217A>T	c.(217-219)Aac>Tac	p.N73Y	RUNX3_ENST00000338888.3_Missense_Mutation_p.N87Y|RUNX3_ENST00000399916.1_Missense_Mutation_p.N87Y|RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000496967.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	73	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CAGAGGAAGTTGGGGCTGTCG	0.756																																					p.N87Y		Atlas-SNP	.											.	RUNX3	72	.	0			c.A259T						PASS	.						34	30	31					1																	25256143		2201	4298	6499	SO:0001583	missense	864	exon2			GGAAGTTGGGGCT	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.217A>T	1.37:g.25256143T>A	ENSP00000308051:p.Asn73Tyr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	62	24	0.387097	NM_001031680	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802911	0.50315	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000428150	D;D;D	0.99483	-5.99;-5.99;-5.99	3.37	2.2	0.27929	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.184695	0.45361	N	0.000371	D	0.98979	0.9652	L	0.52126	1.63	0.80722	D	1	D;D;D;P	0.89917	0.983;1.0;1.0;0.719	P;D;D;P	0.78314	0.905;0.985;0.991;0.472	D	0.98235	1.0485	10	0.51188	T	0.08	-19.8886	7.7574	0.28932	0.1874:0.0:0.0:0.8126	.	73;87;87;73	E9PH34;Q13761-2;B1AJV5;Q13761	.;.;.;RUNX3_HUMAN	Y	87;73;87;73	ENSP00000382800:N87Y;ENSP00000308051:N73Y;ENSP00000343477:N87Y	ENSP00000308051:N73Y	N	-	1	0	RUNX3	25128730	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	5.566000	0.67372	0.376000	0.24707	0.402000	0.26972	AAC	.	.	none		0.756	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		A	25256143	T	A	25256143	3	1	32	1	0	0	0	0	1	0	0	0	13749	1812	63	5	1050	5	RUNX3	1	25256143	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	2417794	25256143	223994478	7	22784										
CCDC21	64793	hgsc.bcm.edu	37	chr1	26601519	26601519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cctgagagaggaggcccagcGaagggattcagccctgcagc	15	12	1	2	rs201784964		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:26601519G>T	ENST00000252992.4	+	12	1990	c.1859G>T	c.(1858-1860)cGa>cTa	p.R620L	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.R569L	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	620						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GAGGCCCAGCGAAGGGATTCA	0.532																																					p.R620L		Atlas-SNP	.											.	CEP85	61	.	0			c.G1859T						PASS	.						51	47	48					1																	26601519		2188	4284	6472	SO:0001583	missense	64793	exon12			CCCAGCGAAGGGA	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1859G>T	1.37:g.26601519G>T	ENSP00000252992:p.Arg620Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	103	33	0.320388	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.355206|3.355206	0.61293|0.61293	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.11821	.|2.74;2.74	5.57|5.57	3.69|3.69	0.42338|0.42338	.|.	.|0.266541	.|0.43919	.|D	.|0.000505	.|T	.|0.14141	.|0.0342	L|L	0.54323|0.54323	1.7|1.7	0.42111|0.42111	D|D	0.991387|0.991387	.|B;B;P	.|0.36438	.|0.021;0.086;0.553	.|B;B;B	.|0.34418	.|0.014;0.058;0.182	.|T	.|0.04650	.|-1.0936	.|10	.|0.52906	.|T	.|0.07	-14.5059|-14.5059	11.5657|11.5657	0.50805|0.50805	0.144:0.0:0.856:0.0|0.144:0.0:0.856:0.0	.|.	.|569;620;620	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	X|L	294|569;620	.|ENSP00000417002:R569L;ENSP00000252992:R620L	.|ENSP00000252992:R620L	E|R	+|+	1|2	0|0	CEP85|CEP85	26474106|26474106	0.955000|0.955000	0.32602|0.32602	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	0.919000|0.919000	0.28692|0.28692	1.363000|1.363000	0.46019|0.46019	0.561000|0.561000	0.74099|0.74099	GAA|CGA	G|0.998;A|0.002	.	alt		0.532	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		T	26601519	G	T	26601519	3	4	32	1	0	0	0	0	1	0	0	0	2796	1058	37	4	1901	4	CCDC21	1	26601519	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1345376	26601519	222649102	8	22785										
IQCC	55721	hgsc.bcm.edu	37	chr1	32672879	32672879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acactgagatccccagaggcGggcccgatcagagaggaacc	13	13	1	3	rs201910762		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:32672879G>A	ENST00000291358.6	+	5	618	c.597G>A	c.(595-597)gcG>gcA	p.A199A	IQCC_ENST00000537469.1_Silent_p.A279A|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	199										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCAGAGGCGGGCCCGATCA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18496	0.0		0.0	False		,,,				2504	0.0				p.A279A		Atlas-SNP	.											.	IQCC	46	.	0			c.G837A						PASS	.						68	76	74					1																	32672879		2203	4300	6503	SO:0001819	synonymous_variant	55721	exon5			AGAGGCGGGCCCG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.597G>A	1.37:g.32672879G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	76	30	0.394737	NM_001160042	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	CCDS355.1																																																																																			G|1.000;A|0.000	0.000	strong		0.567	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		A	32672879	G	A	32672879	2	1	32	1	0	0	0	0	0	0	0	1	7804	1103	39	1		1	IQCC	1	32672879	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	6071360	32672879	216577742	9	22786										
ZSCAN20	7579	hgsc.bcm.edu	37	chr1	33960285	33960285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctttagtgaccattctaatCtcatcactcaccagagaatt	5	11	4	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:33960285C>T	ENST00000361328.3	+	8	2494	c.2341C>T	c.(2341-2343)Ctc>Ttc	p.L781F		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	781					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCATTCTAATCTCATCACTCA	0.438																																					p.L781F		Atlas-SNP	.											.	ZSCAN20	107	.	0			c.C2341T						PASS	.						77	82	80					1																	33960285		2110	4257	6367	SO:0001583	missense	7579	exon8			TCTAATCTCATCA	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2341C>T	1.37:g.33960285C>T	ENSP00000355053:p.Leu781Phe	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	90	32	0.355556	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287144	0.40494	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168641	0.29403	N	0.012248	T	0.61110	0.2321	L	0.56280	1.765	0.28900	N	0.893326	P;D	0.89917	0.755;1.0	B;D	0.97110	0.31;1.0	T	0.57376	-0.7822	9	0.51188	T	0.08	-15.1702	10.8189	0.46593	0.0:0.8458:0.0:0.1542	.	780;781	P17040-3;P17040	.;ZSC20_HUMAN	F	781;715;715	.	ENSP00000324450:L781F	L	+	1	0	ZSCAN20	33732872	0.913000	0.31002	0.034000	0.17996	0.809000	0.45718	2.193000	0.42658	0.828000	0.34709	0.561000	0.74099	CTC	.	.	none		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		T	33960285	C	T	33960285	3	4	32	1	0	0	0	0	1	0	0	0	18229	913	32	2	2367	2	ZSCAN20	1	33960285	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1287406	33960285	215290336	10	22787										
USP24	23358	hgsc.bcm.edu	37	chr1	55549034	55549034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagatctccagccctaattcCttgctgtcacaagatattga	6	11	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:55549034C>T	ENST00000294383.6	-	58	6885	c.6886G>A	c.(6886-6888)Gga>Aga	p.G2296R	USP24_ENST00000407756.1_Missense_Mutation_p.G2136R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2296					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						GCCCTAATTCCTTGCTGTCAC	0.398																																					p.G2296R		Atlas-SNP	.											.	USP24	323	.	0			c.G6886A						PASS	.						74	70	71					1																	55549034		1903	4128	6031	SO:0001583	missense	23358	exon58			TAATTCCTTGCTG	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.6886G>A	1.37:g.55549034C>T	ENSP00000294383:p.Gly2296Arg	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	64	9	0.140625	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628881	0.46944	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.03920	3.76;3.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.06142	0.0159	L	0.35341	1.055	0.58432	D	0.999996	P	0.36438	0.553	B	0.32465	0.146	T	0.34976	-0.9807	10	0.56958	D	0.05	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	2136	B7WPF4	.	R	2296;2136	ENSP00000294383:G2296R;ENSP00000385700:G2136R	ENSP00000294383:G2296R	G	-	1	0	USP24	55321622	1.000000	0.71417	0.993000	0.49108	0.502000	0.33828	5.981000	0.70524	2.647000	0.89833	0.650000	0.86243	GGA	.	.	none		0.398	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			T	55549034	C	T	55549034	3	4	32	1	0	0	0	0	1	0	0	0	17052	690	24	2	1020	2	USP24	1	55549034	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	21588749	55549034	193701587	11	22788										
USP24	23358	hgsc.bcm.edu	37	chr1	55587126	55587126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tacctcagcacttggtgatcCgagcagaatatcaatgatga	9	9	2	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:55587126C>T	ENST00000294383.6	-	37	4329	c.4330G>A	c.(4330-4332)Gga>Aga	p.G1444R	USP24_ENST00000407756.1_Missense_Mutation_p.G1284R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1444					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						CTTGGTGATCCGAGCAGAATA	0.413																																					p.G1444R		Atlas-SNP	.											.	USP24	323	.	0			c.G4330A						PASS	.						104	102	102					1																	55587126		1910	4135	6045	SO:0001583	missense	23358	exon37			GTGATCCGAGCAG	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.4330G>A	1.37:g.55587126C>T	ENSP00000294383:p.Gly1444Arg	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	198	49	0.247475	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996122	0.74703	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02258	4.37;4.38	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.06325	0.0163	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.59337	-0.7473	10	0.11794	T	0.64	.	18.0452	0.89330	0.0:1.0:0.0:0.0	.	1284	B7WPF4	.	R	1444;1284	ENSP00000294383:G1444R;ENSP00000385700:G1284R	ENSP00000294383:G1444R	G	-	1	0	USP24	55359714	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	6.971000	0.76105	2.499000	0.84300	0.650000	0.86243	GGA	.	.	none		0.413	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			T	55587126	C	T	55587126	3	4	32	1	0	0	0	0	1	0	0	0	17052	661	23	1	3660	1	USP24	1	55587126	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	38092	55587126	193663495	12	22789										
LEPR	3953	hgsc.bcm.edu	37	chr1	66101961	66101961	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcctgaaacaatttcagaaGatatcagtgttgatacatca	7	7	3	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:66101961G>A	ENST00000349533.6	+	20	2946	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.D921Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATTTCAGAAGATATCAGTGT	0.373																																					p.D921N		Atlas-SNP	.											LEPR_ENST00000349533,colon,carcinoma,0,1	LEPR	284	1	1	Substitution - Missense(1)	large_intestine(1)	c.G2761A						PASS	.						149	153	152					1																	66101961		2203	4300	6503	SO:0001583	missense	3953	exon20			TCAGAAGATATCA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2761G>A	1.37:g.66101961G>A	ENSP00000330393:p.Asp921Asn	Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	239	43	0.179916	NM_002303	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888719	0.91814	.	.	ENSG00000116678	ENST00000349533	T	0.57273	0.41	5.79	5.79	0.91817	.	0.259962	0.42420	D	0.000718	T	0.67144	0.2862	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	T	0.69157	-0.5219	10	0.66056	D	0.02	-17.0787	20.0281	0.97530	0.0:0.0:1.0:0.0	.	921	P48357	LEPR_HUMAN	N	921	ENSP00000330393:D921N	ENSP00000330393:D921N	D	+	1	0	LEPR	65874549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.681000	0.74523	2.727000	0.93392	0.655000	0.94253	GAT	.	.	none		0.373	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		A	66101961	G	A	66101961	3	1	32	1	0	0	0	0	1	0	0	0	8728	942	33	2	3061	2	LEPR	1	66101961	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	10514835	66101961	183148660	13	22790										
DPYD	1806	hgsc.bcm.edu	37	chr1	98187169	98187169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagaggttggacataccattCcacaagtcagaccaagtggg	11	10	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:98187169C>T	ENST00000370192.3	-	5	480	c.380G>A	c.(379-381)gGa>gAa	p.G127E	DPYD_ENST00000423006.2_Missense_Mutation_p.G90E|DPYD_ENST00000306031.5_Missense_Mutation_p.G127E|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	127					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACATACCATTCCACAAGTCAG	0.353																																					p.G127E		Atlas-SNP	.											.	DPYD	219	.	0			c.G380A						PASS	.						105	101	103					1																	98187169		2203	4299	6502	SO:0001583	missense	1806	exon5			ACCATTCCACAAG	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.380G>A	1.37:g.98187169C>T	ENSP00000359211:p.Gly127Glu	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	182	61	0.335165	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090406	0.94149	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.81163	-1.46;-1.46;-1.46	6.06	6.06	0.98353	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94584	0.7782	10	0.87932	D	0	-17.6068	20.6397	0.99537	0.0:1.0:0.0:0.0	.	127;127	E9PFN1;Q12882	.;DPYD_HUMAN	E	127;90;127	ENSP00000359211:G127E;ENSP00000398884:G90E;ENSP00000307107:G127E	ENSP00000307107:G127E	G	-	2	0	DPYD	97959757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GGA	.	.	none		0.353	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		T	98187169	C	T	98187169	3	4	32	1	0	0	0	0	1	0	0	0	4745	855	30	2	2816	2	DPYD	1	98187169	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	32085208	98187169	151063452	14	22791										
CD1A	909	hgsc.bcm.edu	37	chr1	158226646	158226646	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctgcagcttgtgtgccatgtCtcaggattctacccaaagcc	9	13	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:158226646C>G	ENST00000289429.5	+	4	1208	c.675C>G	c.(673-675)gtC>gtG	p.V225V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	225	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGTGCCATGTCTCAGGATTCT	0.587																																					p.V225V		Atlas-SNP	.											.	CD1A	88	.	0			c.C675G						PASS	.						83	80	81					1																	158226646		2203	4300	6503	SO:0001819	synonymous_variant	909	exon4			CCATGTCTCAGGA	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.675C>G	1.37:g.158226646C>G		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	245	71	0.289796	NM_001763	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																			.	.	none		0.587	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		G	158226646	C	G	158226646	2	3	32	1	0	0	0	0	0	0	0	1	2974	900	32	4		4	CD1A	1	158226646	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	60039477	158226646	91023975	15	22792										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158614070	158614070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtgattgctttgtccaaatcGtcccgtttcttcatcaaagc	7	11	3	1	rs189877287	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:158614070G>A	ENST00000368147.4	-	30	4491	c.4311C>T	c.(4309-4311)gaC>gaT	p.D1437D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1437					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1437D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTCCAAATCGTCCCGTTTCT	0.403													g|||	4	0.000798722	0.0015	0.0	5008	,	,		17322	0.0		0.0	False		,,,				2504	0.002				p.D1437D		Atlas-SNP	.											SPTA1,NS,carcinoma,0,1	SPTA1	720	1	1	Substitution - coding silent(1)	endometrium(1)	c.C4311T						PASS	.	T		7,3797		0,7,1895	99	95	96		4311	-1	0.7	1		96	0,8222		0,0,4111	no	coding-synonymous	SPTA1	NM_003126.2		0,7,6006	AA,AG,GG		0.0,0.184,0.0582		1437/2420	158614070	7,12019	1902	4111	6013	SO:0001819	synonymous_variant	6708	exon30			CAAATCGTCCCGT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4311C>T	1.37:g.158614070G>A		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	145	17	0.117241	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			G|1.000;A|0.000	0.000	strong		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158614070	G	A	158614070	2	1	32	1	0	0	0	0	0	0	0	1	15115	1136	40	1		1	SPTA1	1	158614070	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	387424	158614070	90636551	16	22793										
SPTA1	6708	hgsc.bcm.edu	37	chr1	158622386	158622386	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	taggccaataaaaattcattAtaacgttgcaatagacgacg	7	7	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:158622386A>T	ENST00000368147.4	-	23	3426	c.3246T>A	c.(3244-3246)taT>taA	p.Y1082*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1082					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAATTCATTATAACGTTGCA	0.438																																					p.Y1082X		Atlas-SNP	.											.	SPTA1	720	.	0			c.T3246A						PASS	.						123	114	117					1																	158622386		1900	4119	6019	SO:0001587	stop_gained	6708	exon23			TTCATTATAACGT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3246T>A	1.37:g.158622386A>T	ENSP00000357129:p.Tyr1082*	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	161	23	0.142857	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	43	9.888015	0.99288	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.3	2.46	0.29980	.	0.000000	0.29699	N	0.011431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3384	0.38065	0.233:0.0:0.767:0.0	.	.	.	.	X	1082	.	ENSP00000357129:Y1082X	Y	-	3	2	SPTA1	156889010	1.000000	0.71417	0.994000	0.49952	0.821000	0.46438	2.557000	0.45871	0.403000	0.25479	-0.132000	0.14878	TAT	.	.	none		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158622386	A	T	158622386	4	4	32	1	0	0	0	0	0	1	0	0	15115	456	16	5	4133	5	SPTA1	1	158622386	Nonsense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	8316	158622386	90628235	17	22794										
SDHC	6391	hgsc.bcm.edu	37	chr1	161298187	161298187	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cggtctggttttattttagtGctgttcctttgggaaccacg	11	8	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:161298187G>A	ENST00000367975.2	+	3	228	c.79G>A	c.(79-81)Gct>Act	p.A27T	SDHC_ENST00000392169.2_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Splice_Site_p.A27T|SDHC_ENST00000432287.2_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	27					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTATTTTAGTGCTGTTCCTTT	0.368			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																												p.A27T		Atlas-SNP	.	yes	Rec		Familial paraganglioma	1	1q21	6391	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"		O	.	SDHC	19	.	0			c.G79A						PASS	.						114	119	117					1																	161298187		2203	4300	6503	SO:0001630	splice_region_variant	6391	exon3	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	TTTAGTGCTGTTC	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.78-1G>A	1.37:g.161298187G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	58	17	0.293103	NM_001035511	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752903	0.69648	.	.	ENSG00000143252	ENST00000367975;ENST00000342751	D;D	0.97328	-4.34;-4.34	5.72	5.72	0.89469	.	0.211314	0.48767	D	0.000168	D	0.97133	0.9063	M	0.68952	2.095	.	.	.	D;P	0.57257	0.979;0.877	P;B	0.54270	0.747;0.417	D	0.97053	0.9765	9	0.56958	D	0.05	.	17.3691	0.87371	0.0:0.0:1.0:0.0	.	27;27	Q99643-2;Q99643	.;C560_HUMAN	T	27	ENSP00000356953:A27T;ENSP00000356952:A27T	ENSP00000356952:A27T	A	+	1	0	SDHC	159564811	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.880000	0.39628	2.699000	0.92147	0.591000	0.81541	GCT	.	.	none		0.368	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Missense_Mutation	A	161298187	G	A	161298187	5	1	32	1	0	0	0	0	0	0	1	0	13966	1333	46	2	89	2	SDHC	1	161298187	Splice_Site	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	2675801	161298187	87952434	18	22795										
SELL	6402	hgsc.bcm.edu	37	chr1	169677562	169677562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcttgtcactccctacctgtGtaacagagggctgcctttag	9	12	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:169677562G>A	ENST00000236147.4	-	3	667	c.507C>T	c.(505-507)taC>taT	p.Y169Y	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	156	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CCCTACCTGTGTAACAGAGGG	0.502																																					p.Y169Y		Atlas-SNP	.											.	SELL	43	.	0			c.C507T						PASS	.						98	93	95					1																	169677562		1975	4151	6126	SO:0001819	synonymous_variant	6402	exon3			ACCTGTGTAACAG	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.507C>T	1.37:g.169677562G>A		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	146	41	0.280822	NM_000655	B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	CCDS53427.1																																																																																			.	.	none		0.502	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		A	169677562	G	A	169677562	2	1	32	1	0	0	0	0	0	0	0	1	14016	1372	48	2		2	SELL	1	169677562	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	8379375	169677562	79573059	19	22796										
C1orf112	55732	hgsc.bcm.edu	37	chr1	169821960	169821960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaaagagctcgtcaggagttCccctgggaagaagagtacag	13	8	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:169821960C>A	ENST00000286031.6	+	24	3094	c.2394C>A	c.(2392-2394)ttC>ttA	p.F798L	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.F798L|SCYL3_ENST00000367772.4_3'UTR|SCYL3_ENST00000367771.6_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	798										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCAGGAGTTCCCCTGGGAAG	0.443																																					p.F798L		Atlas-SNP	.											.	C1orf112	74	.	0			c.C2394A						PASS	.						85	96	92					1																	169821960		2203	4300	6503	SO:0001583	missense	55732	exon24			GGAGTTCCCCTGG	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2394C>A	1.37:g.169821960C>A	ENSP00000286031:p.Phe798Leu	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	119	31	0.260504	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156280	0.21454	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.40225	1.04;1.04	5.42	1.96	0.26148	.	1.278610	0.04710	N	0.417527	T	0.04998	0.0134	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24905	-1.0147	10	0.06236	T	0.91	9.7704	6.7373	0.23417	0.0:0.5238:0.3553:0.1209	.	798	Q9NSG2	CA112_HUMAN	L	798	ENSP00000352276:F798L;ENSP00000286031:F798L	ENSP00000286031:F798L	F	+	3	2	C1orf112	168088584	0.000000	0.05858	0.002000	0.10522	0.469000	0.32828	-0.140000	0.10342	0.589000	0.29677	0.591000	0.81541	TTC	.	.	none		0.443	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169821960	C	A	169821960	3	1	32	1	0	0	0	0	1	0	0	0	1985	854	30	4	2480	4	C1orf112	1	169821960	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	144398	169821960	79428661	20	22797										
RGS8	85397	hgsc.bcm.edu	37	chr1	182640795	182640795	+	5'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcaaaggcaatactcactgtCtttggccagtcctcatggcc	9	13	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:182640795C>A	ENST00000483095.2	-	0	151				RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.R26I|RGS8_ENST00000367556.1_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TACTCACTGTCTTTGGCCAGT	0.448																																					p.R26I	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											.	RGS8	51	.	0			c.G77T						PASS	.						153	155	154					1																	182640795		2203	4300	6503	SO:0001623	5_prime_UTR_variant	85397	exon2			CACTGTCTTTGGC	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.-107G>T	1.37:g.182640795C>A		Somatic	279	0	0		WXS	Illumina HiSeq	Phase_I	223	73	0.327354	NM_033345	B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168356	0.57584	.	.	ENSG00000135824	ENST00000258302	T	0.46063	0.88	5.28	2.37	0.29283	.	4.860240	0.00357	N	0.000025	T	0.34366	0.0895	.	.	.	0.80722	D	1	P	0.35982	0.531	B	0.31245	0.126	T	0.02829	-1.1105	9	0.40728	T	0.16	.	8.5475	0.33430	0.0:0.7619:0.0:0.238	.	26	P57771-2	.	I	26	ENSP00000258302:R26I	ENSP00000258302:R26I	R	-	2	0	RGS8	180907418	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.286000	0.33273	0.219000	0.20840	0.563000	0.77884	AGA	.	.	none		0.448	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		A	182640795	C	A	182640795	1	1	32	0	1	0	0	0	0	0	0	0	13312	913	32	4		4	RGS8	1	182640795	5'UTR	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	12818835	182640795	66609826	21	22798										
HMCN1	83872	hgsc.bcm.edu	37	chr1	185953339	185953339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atcactgtgcgcagtgatggGagcctccatattgaaagagt	12	8	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:185953339G>A	ENST00000271588.4	+	19	3058	c.2829G>A	c.(2827-2829)ggG>ggA	p.G943G	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.G943G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	943	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAGTGATGGGAGCCTCCATA	0.388																																					p.G943G		Atlas-SNP	.											.	HMCN1	797	.	0			c.G2829A						PASS	.						175	170	172					1																	185953339		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon19			TGATGGGAGCCTC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2829G>A	1.37:g.185953339G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	171	32	0.187135	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.	.	none		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185953339	G	A	185953339	2	1	32	1	0	0	0	0	0	0	0	1	7220	1161	41	2		2	HMCN1	1	185953339	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3312544	185953339	63297282	22	22799										
TPR	7175	hgsc.bcm.edu	37	chr1	186313566	186313566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctccaacaactgtgattctgCtttctgtgttgtttcttcca	6	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:186313566C>T	ENST00000367478.4	-	25	3654	c.3358G>A	c.(3358-3360)Gca>Aca	p.A1120T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1120					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTGATTCTGCTTTCTGTGTT	0.403			T	NTRK1	papillary thyroid																																p.A1120T		Atlas-SNP	.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR	441	.	0			c.G3358A						PASS	.						274	250	257					1																	186313566		1924	4146	6070	SO:0001583	missense	7175	exon25			ATTCTGCTTTCTG	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3358G>A	1.37:g.186313566C>T	ENSP00000356448:p.Ala1120Thr	Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	152	20	0.131579	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274866	0.80580	.	.	ENSG00000047410	ENST00000367478	T	0.37235	1.21	5.22	5.22	0.72569	Tetratricopeptide, MLP1/MLP2-like (1);	0.109197	0.64402	D	0.000010	T	0.37571	0.1008	L	0.45470	1.425	0.49687	D	0.99981	B	0.30326	0.276	B	0.32393	0.145	T	0.20874	-1.0262	10	0.49607	T	0.09	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	1120	P12270	TPR_HUMAN	T	1120	ENSP00000356448:A1120T	ENSP00000356448:A1120T	A	-	1	0	TPR	184580189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.108000	0.57817	2.447000	0.82792	0.561000	0.74099	GCA	.	.	none		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186313566	C	T	186313566	3	4	32	1	0	0	0	0	1	0	0	0	16413	797	28	2	3841	2	TPR	1	186313566	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	360227	186313566	62937055	23	22800										
UCHL5	51377	hgsc.bcm.edu	37	chr1	193020942	193020942	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttcttctacttgggctcctcGgcaacctgaaataataaatt	6	10	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:193020942G>A	ENST00000367455.4	-	2	317	c.82C>T	c.(82-84)Cga>Tga	p.R28*	UCHL5_ENST00000367454.1_Nonsense_Mutation_p.R28*|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367448.1_Nonsense_Mutation_p.R28*|UCHL5_ENST00000367449.1_Nonsense_Mutation_p.R28*|UCHL5_ENST00000367451.4_Nonsense_Mutation_p.R28*|UCHL5_ENST00000530098.2_5'UTR	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	28					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TGGGCTCCTCGGCAACCTGAA	0.264																																					p.R28X		Atlas-SNP	.											UCHL5,NS,carcinoma,+1,1	UCHL5	41	1	0			c.C82T						scavenged	.						42	47	45					1																	193020942		2191	4266	6457	SO:0001587	stop_gained	51377	exon2			CTCCTCGGCAACC		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"INO80 complex subunits"	19678	protein-coding gene	gene with protein product	"INO80 complex subunit R"	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.82C>T	1.37:g.193020942G>A	ENSP00000356425:p.Arg28*	Somatic	931	4	0.00429646		WXS	Illumina HiSeq	Phase_I	879	12	0.0136519	NM_001199261	Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Nonsense_Mutation	SNP	ENST00000367455.4	37	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769529	0.69992	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683;ENST00000417752	.	.	.	5.29	4.35	0.52113	.	0.057725	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-1.5603	12.7016	0.57035	0.0:0.0:0.7016:0.2984	.	.	.	.	X	28;28;40;28;28;28;18;19;159	.	ENSP00000356418:R28X	R	-	1	2	UCHL5	191287565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.726000	0.61986	1.326000	0.45319	0.650000	0.86243	CGA	.	.	none		0.264	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		A	193020942	G	A	193020942	4	1	32	1	0	0	0	0	0	1	0	0	16919	1124	39	1	947	1	UCHL5	1	193020942	Nonsense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	6707376	193020942	56229679	24	22801										
PTPRC	5788	hgsc.bcm.edu	37	chr1	198685901	198685901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atatgttttatcattacatgCctacatcattgcaaaagtgc	5	8	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:198685901C>T	ENST00000367376.2	+	13	1547	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	PTPRC_ENST00000348564.6_Missense_Mutation_p.A300V|PTPRC_ENST00000594404.1_Missense_Mutation_p.A298V|PTPRC_ENST00000352140.3_Missense_Mutation_p.A411V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A461V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	459	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCATTACATGCCTACATCATT	0.313																																					p.A461V		Atlas-SNP	.											.	PTPRC	229	.	0			c.C1382T						PASS	.						81	83	82					1																	198685901		2202	4300	6502	SO:0001583	missense	5788	exon13			TACATGCCTACAT	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1376C>T	1.37:g.198685901C>T	ENSP00000356346:p.Ala459Val	Somatic	554	1	0.00180505		WXS	Illumina HiSeq	Phase_I	499	156	0.312625	NM_002838	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	18.56	3.650718	0.67472	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.68624	-0.34	4.43	4.43	0.53597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000129	T	0.77948	0.4207	M	0.64404	1.975	0.23628	N	0.997254	D;D;D;D;D	0.89917	0.984;0.997;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.926;0.974;0.994;0.994;0.994	T	0.68899	-0.5287	10	0.87932	D	0	.	12.8585	0.57899	0.0:1.0:0.0:0.0	.	395;395;300;411;459	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	V	461;395;411;411;345;459;393;298	ENSP00000193532:A411V	ENSP00000306782:A298V	A	+	2	0	PTPRC	196952524	0.391000	0.25221	0.192000	0.23308	0.044000	0.14063	2.994000	0.49433	2.741000	0.93983	0.650000	0.86243	GCC	.	.	none		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198685901	C	T	198685901	3	4	32	1	0	0	0	0	1	0	0	0	12797	739	26	2	1433	2	PTPRC	1	198685901	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	5664959	198685901	50564720	25	22802										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226924346	226924346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccttttgtcaatttccatagCtgtgggtgagccacagcggg	12	10	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:226924346C>T	ENST00000272117.3	-	1	813	c.814G>A	c.(814-816)Gct>Act	p.A272T	ITPKB_ENST00000366784.1_Missense_Mutation_p.A272T|ITPKB_ENST00000429204.1_Missense_Mutation_p.A272T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	272					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATTTCCATAGCTGTGGGTGAG	0.602																																					p.A272T	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.G814A						PASS	.						44	48	46					1																	226924346		2203	4300	6503	SO:0001583	missense	3707	exon2			CCATAGCTGTGGG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.814G>A	1.37:g.226924346C>T	ENSP00000272117:p.Ala272Thr	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	67	25	0.373134	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864168	0.32977	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.23147	1.95;1.95;1.92	4.6	-2.09	0.07232	.	1.387480	0.04488	N	0.378907	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.24621	-1.0155	10	0.11182	T	0.66	.	5.7879	0.18343	0.0:0.3502:0.3657:0.2841	.	272	P27987	IP3KB_HUMAN	T	272	ENSP00000272117:A272T;ENSP00000411152:A272T;ENSP00000355748:A272T	ENSP00000272117:A272T	A	-	1	0	ITPKB	224990969	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	-0.766000	0.04725	-0.214000	0.10078	0.561000	0.74099	GCT	.	.	none		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		T	226924346	C	T	226924346	3	4	32	1	0	0	0	0	1	0	0	0	7918	797	28	2	2054	2	ITPKB	1	226924346	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	28238445	226924346	22326275	26	22803										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226924770	226924770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcgcgctgcaagatccgcagCttcctcttggcctcctccgg	10	17	1	1	rs144653273	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:226924770C>T	ENST00000272117.3	-	1	389	c.390G>A	c.(388-390)aaG>aaA	p.K130K	ITPKB_ENST00000366784.1_Silent_p.K130K|ITPKB_ENST00000429204.1_Silent_p.K130K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	130					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGATCCGCAGCTTCCTCTTGG	0.652													C|||	4	0.000798722	0.0	0.0	5008	,	,		14921	0.004		0.0	False		,,,				2504	0.0				p.K130K	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.G390A						PASS	.						59	60	60					1																	226924770		2180	4279	6459	SO:0001819	synonymous_variant	3707	exon2			CCGCAGCTTCCTC	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.390G>A	1.37:g.226924770C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	48	17	0.354167	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																			C|1.000;T|0.000	0.000	strong		0.652	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		T	226924770	C	T	226924770	2	4	32	1	0	0	0	0	0	0	0	1	7918	796	28	2		2	ITPKB	1	226924770	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	424	226924770	22325851	27	22804										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228471339	228471339	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cctcttggagctacgggcctCagggaagcaccagcccagcc	12	16	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr1:228471339C>T	ENST00000422127.1	+	33	8917	c.8873C>T	c.(8872-8874)tCa>tTa	p.S2958L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S77L|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1805L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S3387L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2958L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S77L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2958	Ig-like 29.				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)				CTACGGGCCTCAGGGAAGCAC	0.647																																					p.S3387L		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C10160T						PASS	.						32	38	36					1																	228471339		2129	4236	6365	SO:0001583	missense	84033	exon38			GGGCCTCAGGGAA	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.8873C>T	1.37:g.228471339C>T	ENSP00000409493:p.Ser2958Leu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	77	23	0.298701	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	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.436810	0.83885	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.302534	0.25613	N	0.029461	T	0.22282	0.0537	M	0.89030	3	0.26131	N	0.980411	P;P;P	0.49358	0.785;0.923;0.887	P;P;P	0.51582	0.674;0.56;0.511	T	0.14699	-1.0463	10	0.66056	D	0.02	.	14.2576	0.66062	0.0:0.7337:0.2663:0.0	.	2958;2958;2958	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	L	2958;2958;77;77;1805;657;364	ENSP00000284548:S2958L;ENSP00000409493:S2958L;ENSP00000355668:S77L;ENSP00000355670:S77L;ENSP00000352613:S1805L	ENSP00000284548:S2958L	S	+	2	0	OBSCN	226537962	0.996000	0.38824	0.806000	0.32338	0.095000	0.18619	4.055000	0.57441	2.673000	0.90976	0.550000	0.68814	TCA	.	.	none		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228471339	C	T	228471339	3	4	32	1	0	0	0	0	1	0	0	0	10812	838	29	2	8999	2	OBSCN	1	228471339	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1546569	228471339	20779282	28	22805										
MYT1L	23040	hgsc.bcm.edu	37	chr2	1926161	1926161	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcctcatatgacctcatattGtccctcctcccagcttccat	3	17	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:1926161G>C	ENST00000399161.2	-	10	2127	c.1380C>G	c.(1378-1380)gaC>gaG	p.D460E	MYT1L_ENST00000428368.2_Missense_Mutation_p.D460E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	460					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCTCATATTGTCCCTCCTCC	0.522																																					p.D460E		Atlas-SNP	.											.	MYT1L	241	.	0			c.C1380G						PASS	.						186	179	181					2																	1926161		1995	4157	6152	SO:0001583	missense	23040	exon10			CATATTGTCCCTC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1380C>G	2.37:g.1926161G>C	ENSP00000382114:p.Asp460Glu	Somatic	268	0	0		WXS	Illumina HiSeq	Phase_I	203	58	0.285714	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	4.141	0.024540	0.08054	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.42900	0.96;0.97	5.91	-1.63	0.08345	.	0.204264	0.53938	N	0.000057	T	0.19446	0.0467	N	0.19112	0.55	0.28153	N	0.929329	B;B	0.15141	0.012;0.01	B;B	0.13407	0.006;0.009	T	0.07501	-1.0769	10	0.25106	T	0.35	-41.3752	3.7061	0.08401	0.4795:0.1027:0.3136:0.1041	.	460;460	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	E	460;408;460	ENSP00000382114:D460E;ENSP00000396103:D460E	ENSP00000295067:D408E	D	-	3	2	MYT1L	1905168	1.000000	0.71417	0.017000	0.16124	0.017000	0.09413	1.033000	0.30191	-0.339000	0.08401	0.655000	0.94253	GAC	.	.	none		0.522	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		C	1926161	G	C	1926161	3	2	32	1	0	0	0	0	1	0	0	0	10107	1368	48	4	2238	4	MYT1L	2	1926161	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		1926161	241273212	29	22806										
COLEC11	78989	hgsc.bcm.edu	37	chr2	3691387	3691387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaggagaagcgctacgcggaCgcccagctgtcctgccaggg	16	13	0	1	rs545129835		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:3691387C>T	ENST00000349077.4	+	7	598	c.495C>T	c.(493-495)gaC>gaT	p.D165D	COLEC11_ENST00000382062.2_Silent_p.D141D|COLEC11_ENST00000402922.1_Silent_p.D115D|COLEC11_ENST00000403096.3_Silent_p.D139D|COLEC11_ENST00000402794.1_Silent_p.D115D|COLEC11_ENST00000236693.7_Silent_p.D162D|COLEC11_ENST00000404205.1_Silent_p.D91D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.D179D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTACGCGGACGCCCAGCTGT	0.662																																					p.D179D		Atlas-SNP	.											.	COLEC11	93	.	0			c.C537T						PASS	.						38	40	39					2																	3691387		2203	4298	6501	SO:0001819	synonymous_variant	78989	exon8			CGCGGACGCCCAG	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.495C>T	2.37:g.3691387C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	70	16	0.228571	NM_001255985	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	CCDS1649.1																																																																																			.	.	none		0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		T	3691387	C	T	3691387	2	4	32	1	0	0	0	0	0	0	0	1	3711	535	19	1		1	COLEC11	2	3691387	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1765226	3691387	239507986	30	22807										
APOB	338	hgsc.bcm.edu	37	chr2	21241888	21241888	+	Frame_Shift_Del	DEL	G	G	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgcttgagttacaaacttcaGggtatccaccaaggctctgt							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:21241888delG	ENST00000233242.1	-	20	3224	c.3097delC	c.(3097-3099)ctgfs	p.L1033fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1033					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAACTTCAGGGTATCCACC	0.473																																					p.L1033fs		Atlas-Indel	.											APOB,caecum,carcinoma,+1,1	APOB	761	1	0			c.3098delT						PASS	.						133	123	127					2																	21241888		2203	4300	6503	SO:0001589	frameshift_variant	338	exon20			.	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3097delC	2.37:g.21241888delG	ENSP00000233242:p.Leu1033fs	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	132	34	0.257576	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																			.	.	none		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21241888	G	-	21241888	7	5	32	1	0	1	0	1	0	0	0	0	785	991	35	0	10634	0	APOB	2	21241888	Frame_Shift_Del	DEL	G	TCGA-GS-A9TW-01A-11D-A382-10	17550501	21241888	221957485	31	22808	466	3								
APOB	338	hgsc.bcm.edu	37	chr2	21241889	21241890	+	Frame_Shift_Del	DEL	GG	GG	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcttgagttacaaacttcagGgtatccaccaaggctctgtc							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:21241889_21241890delGG	ENST00000233242.1	-	20	3222_3223	c.3095_3096delCC	c.(3094-3096)accfs	p.T1032fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1032					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTTCAGGGTATCCACCAA	0.47																																					p.1032_1033del		Pindel	.											APOB,caecum,carcinoma,+2,1	APOB	761	1	0			c.3096_3097del						PASS	.																																			SO:0001589	frameshift_variant	338	exon20			.	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3095_3096delCC	2.37:g.21241889_21241890delGG	ENSP00000233242:p.Thr1032fs	Somatic	197	.	.		WXS	Illumina HiSeq	Phase_I	131	27	0.206	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																			.	.	none		0.47	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21241890	GG	-	21241889	7	5	32	1	0	1	0	1	0	0	0	0	785	1219	43	0	10635	0	APOB	2	21241889	Frame_Shift_Del	DEL	GG	TCGA-GS-A9TW-01A-11D-A382-10	1	21241889	221957484	32	22809	466	3								
APOB	338	hgsc.bcm.edu	37	chr2	21241890	21241890	+	Missense_Mutation	SNP	G	G	C													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttgagttacaaacttcaggGtatccaccaaggctctgtcc							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:21241890G>C	ENST00000233242.1	-	20	3222	c.3095C>G	c.(3094-3096)aCc>aGc	p.T1032S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1032					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTTCAGGGTATCCACCAA	0.473																																					p.T1032S		Atlas-SNP	.											.	APOB	761	.	0			c.C3095G						PASS	.						134	124	128					2																	21241890		2203	4300	6503	SO:0001583	missense	338	exon20			TTCAGGGTATCCA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3095C>G	2.37:g.21241890G>C	ENSP00000233242:p.Thr1032Ser	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	132	34	0.257576	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507504	0.44558	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00717	5.79	4.3	-0.221	0.13126	Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.291638	0.24067	N	0.041848	T	0.00608	0.0020	N	0.26042	0.785	0.80722	D	1	B	0.24963	0.115	B	0.25140	0.058	T	0.62959	-0.6743	10	0.21014	T	0.42	.	6.8881	0.24214	0.1539:0.2639:0.5821:0.0	.	1032	P04114	APOB_HUMAN	S	1032	ENSP00000233242:T1032S	ENSP00000233242:T1032S	T	-	2	0	APOB	21095395	0.998000	0.40836	0.437000	0.26809	0.982000	0.71751	2.741000	0.47426	0.121000	0.18284	0.460000	0.39030	ACC	.	.	none		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21241890	G	C	21241890	3	2	32	1	0	0	0	0	1	0	0	0	785	1261	44	4	10636	4	APOB	2	21241890	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1	21241890	221957483	33	22810	466	3								
C2orf39	92749	hgsc.bcm.edu	37	chr2	26652610	26652610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agaatgtgatgaaaacctttCgtgaggagctctataacatt	9	6	1	4	rs577516330	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:26652610C>T	ENST00000288710.2	+	5	729	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	219					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GAAAACCTTTCGTGAGGAGCT	0.473													C|||	6	0.00119808	0.0	0.0	5008	,	,		17363	0.0		0.0	False		,,,				2504	0.0061				p.R219C		Atlas-SNP	.											.	CCDC164	84	.	0			c.C655T						PASS	.						108	107	107					2																	26652610		2203	4300	6503	SO:0001583	missense	92749	exon5			ACCTTTCGTGAGG	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.655C>T	2.37:g.26652610C>T	ENSP00000288710:p.Arg219Cys	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	96	32	0.333333	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987275	0.53934	.	.	ENSG00000157856	ENST00000288710	T	0.17528	2.27	5.35	5.35	0.76521	.	0.053346	0.64402	D	0.000001	T	0.41880	0.1178	M	0.83012	2.62	0.50313	D	0.99986	D	0.71674	0.998	P	0.62813	0.907	T	0.40979	-0.9534	10	0.87932	D	0	-10.8199	12.8901	0.58066	0.1629:0.8371:0.0:0.0	.	219	Q96MC2	CC164_HUMAN	C	219	ENSP00000288710:R219C	ENSP00000288710:R219C	R	+	1	0	CCDC164	26506114	0.848000	0.29623	0.782000	0.31804	0.377000	0.30045	1.849000	0.39318	2.506000	0.84524	0.563000	0.77884	CGT	.	.	none		0.473	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26652610	C	T	26652610	3	4	32	1	0	0	0	0	1	0	0	0	2164	884	31	1	673	1	C2orf39	2	26652610	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	5410720	26652610	216546763	34	22811										
ZNF513	130557	hgsc.bcm.edu	37	chr2	27601207	27601207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctggcaccacctggtggcacAtggaggctcaaatctggaag	13	11	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:27601207A>G	ENST00000323703.6	-	4	1029	c.831T>C	c.(829-831)caT>caC	p.H277H	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.H215H	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	277					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCACATGGAGGCTCA	0.592																																					p.H277H		Atlas-SNP	.											.	ZNF513	45	.	0			c.T831C						PASS	.						34	37	36					2																	27601207		2203	4300	6503	SO:0001819	synonymous_variant	130557	exon4			TGGCACATGGAGG	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.831T>C	2.37:g.27601207A>G		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	22	7	0.318182	NM_144631	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	CCDS1751.1																																																																																			.	.	none		0.592	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		G	27601207	A	G	27601207	2	3	32	1	0	0	0	0	0	0	0	1	17955	214	8	2		2	ZNF513	2	27601207	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	948597	27601207	215598166	35	22812										
SLC4A1AP	22950	hgsc.bcm.edu	37	chr2	27886844	27886844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gacctcagtggggacttcaaGaagccagctctgccggtgtc	13	12	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:27886844G>A	ENST00000326019.6	+	1	507	c.225G>A	c.(223-225)aaG>aaA	p.K75K	SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	75						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGGACTTCAAGAAGCCAGCTC	0.597																																					p.K75K		Atlas-SNP	.											.	SLC4A1AP	63	.	0			c.G225A						PASS	.						60	63	62					2																	27886844		2203	4300	6503	SO:0001819	synonymous_variant	22950	exon1			CTTCAAGAAGCCA		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.225G>A	2.37:g.27886844G>A		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	62	19	0.306452	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	CCDS33166.1																																																																																			.	.	none		0.597	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		A	27886844	G	A	27886844	2	1	32	1	0	0	0	0	0	0	0	1	14653	933	33	2		2	SLC4A1AP	2	27886844	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	285637	27886844	215312529	36	22813										
FANCL	55120	hgsc.bcm.edu	37	chr2	58459217	58459217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttcagttgtaaatcttcagGcaacactatcctaaggtgga	8	9	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:58459217G>A	ENST00000233741.4	-	2	163	c.127C>T	c.(127-129)Cct>Tct	p.P43S	FANCL_ENST00000540646.1_Missense_Mutation_p.P43S|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000481670.1_5'Flank|FANCL_ENST00000402135.3_Missense_Mutation_p.P43S|FANCL_ENST00000403295.3_Missense_Mutation_p.P43S	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	43					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AAATCTTCAGGCAACACTATC	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.P43S		Atlas-SNP	.											.	FANCL	35	.	0			c.C127T						PASS	.						122	105	111					2																	58459217		2201	4300	6501	SO:0001583	missense	55120	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CTTCAGGCAACAC	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.127C>T	2.37:g.58459217G>A	ENSP00000233741:p.Pro43Ser	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	126	40	0.31746	NM_018062	Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	CCDS1860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.898417|3.898417	0.72639|0.72639	.|.	.|.	ENSG00000115392|ENSG00000115392	ENST00000427708|ENST00000403295;ENST00000233741;ENST00000402135;ENST00000540646	.|T;T;T;T	.|0.77489	.|-1.1;-1.1;-1.1;-1.1	6.01|6.01	6.01|6.01	0.97437|0.97437	.|Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87034|0.87034	0.6077|0.6077	M|M	0.69248|0.69248	2.105|2.105	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|0.981;1.0;1.0	.|P;D;D	.|0.81914	.|0.869;0.991;0.995	D|D	0.86133|0.86133	0.1576|0.1576	5|10	.|0.49607	.|T	.|0.09	-21.5012|-21.5012	17.4309|17.4309	0.87539|0.87539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|43;43;43	.|B5MC31;Q9NW38-2;Q9NW38	.|.;.;FANCL_HUMAN	V|S	42|43	.|ENSP00000386097:P43S;ENSP00000233741:P43S;ENSP00000385021:P43S;ENSP00000441431:P43S	.|ENSP00000233741:P43S	A|P	-|-	2|1	0|0	FANCL|FANCL	58312721|58312721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	5.093000|5.093000	0.64517|0.64517	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	GCC|CCT	.	.	none		0.348	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		A	58459217	G	A	58459217	3	1	32	1	0	0	0	0	1	0	0	0	5670	1203	42	2	1067	2	FANCL	2	58459217	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	30572373	58459217	184740156	37	22814										
XPO1	7514	hgsc.bcm.edu	37	chr2	61719472	61719472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agatttaccatgcatgaattCgaacagcttgttaactacag	7	8	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:61719472C>T	ENST00000401558.2	-	15	2438	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	XPO1_ENST00000406957.1_Missense_Mutation_p.E571K|XPO1_ENST00000404992.2_Missense_Mutation_p.E571K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	571	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.E571K(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGCATGAATTCGAACAGCTTG	0.313			Mis		CLL																																p.E571K		Atlas-SNP	.	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	XPO1,NS,carcinoma,0,17	XPO1	108	17	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|prostate(1)|endometrium(1)	c.G1711A						PASS	.						66	63	64					2																	61719472		2203	4300	6503	SO:0001583	missense	7514	exon15			TGAATTCGAACAG	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1711G>A	2.37:g.61719472C>T	ENSP00000384863:p.Glu571Lys	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	278	84	0.302158	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629400	0.96671	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88632	0.3170	10	0.66056	D	0.02	-19.4383	20.0572	0.97657	0.0:1.0:0.0:0.0	.	218;571	B3KWD0;O14980	.;XPO1_HUMAN	K	571	ENSP00000384863:E571K;ENSP00000385942:E571K;ENSP00000385559:E571K	ENSP00000384863:E571K	E	-	1	0	XPO1	61572976	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.722000	0.84778	2.826000	0.97356	0.655000	0.94253	GAA	.	.	none		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		T	61719472	C	T	61719472	3	4	32	1	0	0	0	0	1	0	0	0	17442	893	31	1	1548	1	XPO1	2	61719472	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3260255	61719472	181479901	38	22815										
SPRED2	200734	hgsc.bcm.edu	37	chr2	65561836	65561836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccaaacttcctattatcgacCttccagtgatgaaacgttgg	7	11	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:65561836C>G	ENST00000356388.4	-	3	465	c.276G>C	c.(274-276)aaG>aaC	p.K92N	SPRED2_ENST00000443619.2_Missense_Mutation_p.K89N|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	92	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATTATCGACCTTCCAGTGAT	0.453																																					p.K92N		Atlas-SNP	.											.	SPRED2	70	.	0			c.G276C						PASS	.						212	198	202					2																	65561836		2203	4300	6503	SO:0001583	missense	200734	exon3			ATCGACCTTCCAG	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.276G>C	2.37:g.65561836C>G	ENSP00000348753:p.Lys92Asn	Somatic	189	0	0		WXS	Illumina HiSeq	Phase_I	162	51	0.314815	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630623	0.46944	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.28	-0.546	0.11840	EVH1 (2);Pleckstrin homology-type (1);	0.144353	0.64402	D	0.000010	D	0.97498	0.9181	M	0.73962	2.25	0.51482	D	0.999928	B;B	0.22146	0.065;0.049	B;B	0.34418	0.182;0.112	D	0.93945	0.7227	10	0.72032	D	0.01	-18.6884	9.8976	0.41329	0.0:0.329:0.0:0.671	.	89;92	E9PEP0;Q7Z698	.;SPRE2_HUMAN	N	92;89;107;24;92	ENSP00000348753:K92N;ENSP00000393697:K89N;ENSP00000390595:K107N;ENSP00000407627:K24N;ENSP00000406481:K92N	ENSP00000348753:K92N	K	-	3	2	SPRED2	65415340	0.976000	0.34144	0.998000	0.56505	0.993000	0.82548	0.200000	0.17257	-0.033000	0.13736	-0.136000	0.14681	AAG	.	.	none		0.453	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			G	65561836	C	G	65561836	3	3	32	1	0	0	0	0	1	0	0	0	15092	680	24	4	996	4	SPRED2	2	65561836	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3842364	65561836	177637537	39	22816										
KDM3A	55818	hgsc.bcm.edu	37	chr2	86669185	86669185	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaaaccatggtgctcacgctCggagaaagttggccggtatt	13	9	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:86669185C>T	ENST00000409556.1	+	3	380	c.15C>T	c.(13-15)ctC>ctT	p.L5L	KDM3A_ENST00000312912.5_Silent_p.L5L|KDM3A_ENST00000409064.1_Silent_p.L5L|KDM3A_ENST00000542128.1_Silent_p.L5L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	5					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TGCTCACGCTCGGAGAAAGTT	0.642																																					p.L5L	NSCLC(96;1150 1523 6936 46253 49736)	Atlas-SNP	.											.	KDM3A	179	.	0			c.C15T						PASS	.						96	99	98					2																	86669185		2203	4300	6503	SO:0001819	synonymous_variant	55818	exon2			CACGCTCGGAGAA	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.15C>T	2.37:g.86669185C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	51	20	0.392157	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																			.	.	none		0.642	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		T	86669185	C	T	86669185	2	4	32	1	0	0	0	0	0	0	0	1	8126	871	31	1		1	KDM3A	2	86669185	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	21107349	86669185	156530188	40	22817										
FAM178B	51252	hgsc.bcm.edu	37	chr2	97637661	97637661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggggccgcagcctgctggcTcaggcctgacgtgttccaga	15	13	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:97637661T>C	ENST00000417561.3	-	7	984	c.985A>G	c.(985-987)Agc>Ggc	p.S329G	FAM178B_ENST00000490605.2_Missense_Mutation_p.S181G|FAM178B_ENST00000327896.3_Missense_Mutation_p.S149G			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	329										large_intestine(1)|ovary(1)	2						GCCTGCTGGCTCAGGCCTGAC	0.617																																					p.S181G		Atlas-SNP	.											.	FAM178B	35	.	0			c.A541G						PASS	.						16	26	23					2																	97637661		692	1590	2282	SO:0001583	missense	51252	exon3			GCTGGCTCAGGCC	AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.985A>G	2.37:g.97637661T>C	ENSP00000413245:p.Ser329Gly	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	124	46	0.370968	NM_001122646	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	T	9.337	1.062118	0.19987	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.51574	0.7;0.77;0.75	4.23	1.8	0.24995	.	1.317100	0.05971	U	0.642372	T	0.30727	0.0774	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.21793	-1.0235	8	0.11485	T	0.65	-1.5505	2.919	0.05762	0.212:0.1255:0.0:0.6625	.	.	.	.	G	329;149;181	ENSP00000413245:S329G;ENSP00000333553:S149G;ENSP00000429896:S181G	ENSP00000333553:S149G	S	-	1	0	FAM178B	97001388	0.007000	0.16637	0.002000	0.10522	0.008000	0.06430	1.048000	0.30379	0.393000	0.25203	-0.336000	0.08194	AGC	.	.	none		0.617	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		C	97637661	T	C	97637661	3	2	32	1	0	0	0	0	1	0	0	0	5504	1551	54	3	1589	3	FAM178B	2	97637661	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	10968476	97637661	145561712	41	22818										
SH3RF3	344558	hgsc.bcm.edu	37	chr2	110049003	110049003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cccagaagagtgacgagctgGagctgcacaagggagagatg	16	8	0	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:110049003G>A	ENST00000309415.6	+	6	1450	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	484	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TGACGAGCTGGAGCTGCACAA	0.637																																					p.E484K		Atlas-SNP	.											.	SH3RF3	62	.	0			c.G1450A						PASS	.						39	45	43					2																	110049003		2020	4203	6223	SO:0001583	missense	344558	exon6			GAGCTGGAGCTGC	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1450G>A	2.37:g.110049003G>A	ENSP00000309186:p.Glu484Lys	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	41	15	0.365854	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	G	34	5.408357	0.96051	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.29917	1.55;1.55	4.9	4.9	0.64082	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61173	-0.7116	9	0.54805	T	0.06	-50.5295	18.6073	0.91271	0.0:0.0:1.0:0.0	.	484	Q8TEJ3	SH3R3_HUMAN	K	484	ENSP00000414997:E484K;ENSP00000309186:E484K	ENSP00000309186:E484K	E	+	1	0	SH3RF3	109415435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.271000	0.95698	2.688000	0.91661	0.561000	0.74099	GAG	.	.	none		0.637	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		A	110049003	G	A	110049003	3	1	32	1	0	0	0	0	1	0	0	0	14260	1175	41	2	1472	2	SH3RF3	2	110049003	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	12411342	110049003	133150370	42	22819										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147666	113147666	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccacggcccttcttccggccCctaatatcctgagcctgtaa	7	17	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:113147666C>A	ENST00000302558.3	-	20	3047	c.2856G>T	c.(2854-2856)agG>agT	p.R952S	RGPD8_ENST00000409750.1_Missense_Mutation_p.R812S	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	952					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTTCCGGCCCCTAATATCCT	0.413																																					p.R952S		Atlas-SNP	.											RGPD8_ENST00000302558,NS,carcinoma,-1,2	RGPD8	81	2	0			c.G2856T						scavenged	.						170	130	143					2																	113147666		688	1572	2260	SO:0001583	missense	727851	exon20			CCGGCCCCTAATA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2856G>T	2.37:g.113147666C>A	ENSP00000306637:p.Arg952Ser	Somatic	1142	92	0.0805604		WXS	Illumina HiSeq	Phase_I	1160	89	0.0767241	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.797847	0.00004	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36340	1.26;1.26	2.33	2.33	0.28932	.	.	.	.	.	T	0.05410	0.0143	N	0.00067	-2.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	9	0.05525	T	0.97	-3.6976	3.1911	0.06618	0.5145:0.2459:0.0:0.2395	.	952	O14715	RGPD8_HUMAN	S	952;812	ENSP00000306637:R952S;ENSP00000386511:R812S	ENSP00000306637:R952S	R	-	3	2	RGPD8	112864137	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	0.325000	0.19628	0.153000	0.19213	-1.882000	0.00544	AGG	C|0.500;A|0.500	0.500	weak		0.413	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		A	113147666	C	A	113147666	3	1	32	1	0	0	0	0	1	0	0	0	13289	622	22	4	13471	4	RGPD5	2	113147666	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3098663	113147666	130051707	43	22820										
SLC20A1	6574	hgsc.bcm.edu	37	chr2	113404650	113404650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttactgggggccaaagtgaGcgaaaccatccggaagggct	14	10	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:113404650G>C	ENST00000272542.3	+	2	784	c.245G>C	c.(244-246)aGc>aCc	p.S82T	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	82					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCCAAAGTGAGCGAAACCATC	0.527																																					p.S82T		Atlas-SNP	.											.	SLC20A1	59	.	0			c.G245C						PASS	.						137	125	129					2																	113404650		2203	4300	6503	SO:0001583	missense	6574	exon2			AAGTGAGCGAAAC		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.245G>C	2.37:g.113404650G>C	ENSP00000272542:p.Ser82Thr	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	147	47	0.319728	NM_005415	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562548	0.45694	.	.	ENSG00000144136	ENST00000272542	D	0.90069	-2.61	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	N	0.17631	0.505	0.80722	D	1	B	0.25441	0.126	B	0.30316	0.114	T	0.80779	-0.1230	10	0.54805	T	0.06	-21.2441	17.2043	0.86914	0.0:0.0:1.0:0.0	.	82	Q8WUM9	S20A1_HUMAN	T	82	ENSP00000272542:S82T	ENSP00000272542:S82T	S	+	2	0	SLC20A1	113121121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.806000	0.99153	2.733000	0.93635	0.591000	0.81541	AGC	.	.	none		0.527	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		C	113404650	G	C	113404650	3	2	32	1	0	0	0	0	1	0	0	0	14438	971	34	4	247	4	SLC20A1	2	113404650	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	256984	113404650	129794723	44	22821										
FOXD4L1	200350	hgsc.bcm.edu	37	chr2	114256859	114256859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cctgccaagagctgagcgccCtcgctccacaccgcagcgca	10	19	0	2	rs189095552	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:114256859C>T	ENST00000306507.5	+	1	199	c.26C>T	c.(25-27)cCt>cTt	p.P9L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	9					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P9L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCTGAGCGCCCTCGCTCCACA	0.647																																					p.P9L		Atlas-SNP	.											FOXD4L1,NS,malignant_melanoma,0,2	FOXD4L1	48	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C26T						scavenged	.						24	34	31					2																	114256859		2142	4164	6306	SO:0001583	missense	200350	exon1			AGCGCCCTCGCTC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.26C>T	2.37:g.114256859C>T	ENSP00000302756:p.Pro9Leu	Somatic	175	8	0.0457143		WXS	Illumina HiSeq	Phase_I	162	12	0.0740741	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	265	0.12133699633699634	29	0.05894308943089431	63	0.17403314917127072	122	0.21328671328671328	51	0.06728232189973615	.	0	-2.671754	0.00104	.	.	ENSG00000184492	ENST00000306507	D	0.93307	-3.2	2.57	0.149	0.14863	.	.	.	.	.	T	0.00178	0.0005	N	0.01168	-0.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.18276	T	0.48	.	6.9208	0.24387	0.0:0.5889:0.0:0.4111	rs2757969;rs4644326	9	Q9NU39	FX4L1_HUMAN	L	9	ENSP00000302756:P9L	ENSP00000302756:P9L	P	+	2	0	FOXD4L1	113973329	0.000000	0.05858	0.270000	0.24601	0.060000	0.15804	-0.419000	0.07071	-0.116000	0.11893	-1.461000	0.01025	CCT	.	.	weak		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		T	114256859	C	T	114256859	3	4	32	1	0	0	0	0	1	0	0	0	6000	681	24	2	28	2	FOXD4L1	2	114256859	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	852209	114256859	128942514	45	22822										
IFIH1	64135	hgsc.bcm.edu	37	chr2	163144683	163144684	+	Frame_Shift_Ins	INS	-	-	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acttttccaggctcagatgcINSttttttcttcttgtctaagt							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:163144683_163144684insT	ENST00000263642.2	-	5	1451_1452	c.1056_1057insA	c.(1054-1059)aaagcafs	p.A353fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	353	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.A353T(1)|p.K352N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGCTCAGATGCTTTTTTCTTCT	0.366																																					p.A353fs		Pindel,Atlas-Indel	.											IFIH1,scalp,carcinoma,0,1	IFIH1	102	1	2	Substitution - Missense(2)	kidney(1)|skin(1)	c.1057_1058insA						PASS	.																																			SO:0001589	frameshift_variant	64135	exon5			.	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1057dupA	2.37:g.163144689_163144689dupT	ENSP00000263642:p.Ala353fs	Somatic	365	.	.		WXS	Illumina HiSeq	Phase_I	334	53	0.159	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Ins	INS	ENST00000263642.2	37	CCDS2217.1																																																																																			.	.	none		0.366	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		T	163144684	-	T	163144683	7	5	32	1	0	1	1	0	0	0	0	0	7520	797	28	0	2068	0	IFIH1	2	163144683	Frame_Shift_Ins	INS	-	TCGA-GS-A9TW-01A-11D-A382-10	48887824	163144683	80054690	46	22823										
SCN7A	6332	hgsc.bcm.edu	37	chr2	167298253	167298253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccaatactttcccaacttgaAaattcttaactaatagagca	3	10	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:167298253A>T	ENST00000409855.1	-	14	1936	c.1810T>A	c.(1810-1812)Ttc>Atc	p.F604I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	604					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCCAACTTGAAAATTCTTAAC	0.353																																					p.F604I		Atlas-SNP	.											.	SCN7A	410	.	0			c.T1810A						PASS	.						72	69	70					2																	167298253		1889	4124	6013	SO:0001583	missense	6332	exon14			ACTTGAAAATTCT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1810T>A	2.37:g.167298253A>T	ENSP00000386796:p.Phe604Ile	Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	172	47	0.273256	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137203	0.77775	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98474	-4.95;-4.95	4.78	3.59	0.41128	Ion transport (1);	0.113989	0.40302	N	0.001126	D	0.95156	0.8430	L	0.34521	1.04	0.36641	D	0.876824	B	0.29162	0.235	B	0.29524	0.103	D	0.94194	0.7444	10	0.87932	D	0	.	8.9138	0.35570	0.827:0.0:0.0:0.173	.	604	Q01118	SCN7A_HUMAN	I	604	ENSP00000386796:F604I;ENSP00000413699:F604I	ENSP00000259060:F604I	F	-	1	0	SCN7A	167006499	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.203000	0.77864	0.917000	0.36895	0.477000	0.44152	TTC	.	.	none		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167298253	A	T	167298253	3	4	32	1	0	0	0	0	1	0	0	0	13923	14	1	5	3286	5	SCN7A	2	167298253	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	4153570	167298253	75901120	47	22824										
CDCA7	83879	hgsc.bcm.edu	37	chr2	174224116	174224116	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccattgtggatttttacagaAaccaaggccagatgtcacta	8	9	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:174224116A>G	ENST00000347703.3	+	2	291				CDCA7_ENST00000306721.3_Missense_Mutation_p.K94R|CDCA7_ENST00000410101.3_Splice_Site_p.K50R|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTTTTACAGAAACCAAGGCCA	0.413																																					p.K94R		Atlas-SNP	.											.	CDCA7	48	.	0			c.A281G						PASS	.						99	100	99					2																	174224116		2203	4300	6503	SO:0001627	intron_variant	83879	exon3			TACAGAAACCAAG	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.147+551A>G	2.37:g.174224116A>G		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	232	71	0.306034	NM_031942	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470673	0.43942	.	.	ENSG00000144354	ENST00000306721;ENST00000410101	T;T	0.48522	0.81;0.81	6.06	6.06	0.98353	.	0.219733	0.31772	N	0.007090	T	0.49081	0.1536	.	.	.	0.80722	D	1	D;B	0.62365	0.991;0.2	P;B	0.47603	0.551;0.051	T	0.43310	-0.9399	9	0.31617	T	0.26	-21.9646	14.8662	0.70419	1.0:0.0:0.0:0.0	.	50;94	B4DV66;Q9BWT1-2	.;.	R	94;50	ENSP00000306968:K94R;ENSP00000386656:K50R	ENSP00000306968:K94R	K	+	2	0	CDCA7	173932362	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.236000	0.65354	2.323000	0.78572	0.528000	0.53228	AAA	.	.	none		0.413	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		G	174224116	A	G	174224116	1	3	32	0	1	0	0	0	0	0	0	0	3090	14	1	2		2	CDCA7	2	174224116	Intron	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	6925863	174224116	68975257	48	22825										
SPATS2L	26010	hgsc.bcm.edu	37	chr2	201284179	201284179	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cctcgtgagaaaaagatctcGatacttgaggaaccttcaaa	8	9	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:201284179G>C	ENST00000358677.5	+	6	652	c.405G>C	c.(403-405)tcG>tcC	p.S135S	SPATS2L_ENST00000409385.1_Silent_p.S75S|SPATS2L_ENST00000409718.1_Silent_p.S135S|SPATS2L_ENST00000451764.2_Silent_p.S135S|SPATS2L_ENST00000409755.3_Silent_p.S165S|SPATS2L_ENST00000409140.3_Silent_p.S135S|SPATS2L_ENST00000360760.5_Silent_p.S135S|SPATS2L_ENST00000409151.1_Silent_p.S143S|SPATS2L_ENST00000409988.3_Silent_p.S135S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	135						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAAAGATCTCGATACTTGAGG	0.463																																					p.S135S		Atlas-SNP	.											.	SPATS2L	88	.	0			c.G405C						PASS	.						43	44	44					2																	201284179		1937	4129	6066	SO:0001819	synonymous_variant	26010	exon6			GATCTCGATACTT	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.405G>C	2.37:g.201284179G>C		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	90	31	0.344444	NM_001100423	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	CCDS46483.1																																																																																			.	.	none		0.463	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		C	201284179	G	C	201284179	2	2	32	1	0	0	0	0	0	0	0	1	15019	1045	37	4		4	SPATS2L	2	201284179	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	27060063	201284179	41915194	49	22826										
PARD3B	117583	hgsc.bcm.edu	37	chr2	206166288	206166288	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaggacatggaaaataaagcCaggaaagtcaaaaaaacgaa	10	5	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:206166288C>A	ENST00000406610.2	+	18	2700	c.2493C>A	c.(2491-2493)gcC>gcA	p.A831A	PARD3B_ENST00000358768.2_Silent_p.A769A|PARD3B_ENST00000351153.1_Silent_p.A762A|PARD3B_ENST00000349953.3_Silent_p.A831A|PARD3B_ENST00000462231.1_Silent_p.A831A	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	831	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAATAAAGCCAGGAAAGTCA	0.443																																					p.A831A		Atlas-SNP	.											.	PARD3B	314	.	0			c.C2493A						PASS	.						78	76	77					2																	206166288		1813	4088	5901	SO:0001819	synonymous_variant	117583	exon18			TAAAGCCAGGAAA	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2493C>A	2.37:g.206166288C>A		Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	273	41	0.150183	NM_205863	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				.	.	none		0.443	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206166288	C	A	206166288	2	1	32	1	0	0	0	0	0	0	0	1	11444	581	21	4		4	PARD3B	2	206166288	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	4882109	206166288	37033085	50	22827										
ACSL3	2181	hgsc.bcm.edu	37	chr2	223787815	223787815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtcttcaaaaattaaaaaagGaagcaaaggggatacatcca	8	6	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:223787815G>A	ENST00000357430.3	+	10	1631	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	ACSL3_ENST00000392066.3_Missense_Mutation_p.G367E	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	367					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTAAAAAAGGAAGCAAAGGG	0.318			T	ETV1	prostate																																p.G367E		Atlas-SNP	.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3	107	.	0			c.G1100A						PASS	.						47	50	49					2																	223787815		2200	4299	6499	SO:0001583	missense	2181	exon9			AAAAAGGAAGCAA	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1100G>A	2.37:g.223787815G>A	ENSP00000350012:p.Gly367Glu	Somatic	596	1	0.00167785		WXS	Illumina HiSeq	Phase_I	525	122	0.232381	NM_203372	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746451	0.89663	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.72835	1.32;1.32;-0.69	5.36	5.36	0.76844	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80251	-0.1460	10	0.23302	T	0.38	-18.0091	19.0985	0.93265	0.0:0.0:1.0:0.0	.	367	O95573	ACSL3_HUMAN	E	367;367;137	ENSP00000350012:G367E;ENSP00000375918:G367E;ENSP00000404182:G137E	ENSP00000350012:G367E	G	+	2	0	ACSL3	223496059	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.325000	0.96381	2.524000	0.85096	0.655000	0.94253	GGA	.	.	none		0.318	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		A	223787815	G	A	223787815	3	1	32	1	0	0	0	0	1	0	0	0	178	1174	41	2	1126	2	ACSL3	2	223787815	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	17621527	223787815	19411558	51	22828										
CXCR7	57007	hgsc.bcm.edu	37	chr2	237489798	237489798	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cccttctccattatcgctgtCttctacttcctgctggccag	6	16	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr2:237489798C>A	ENST00000272928.3	+	2	1000	c.690C>A	c.(688-690)gtC>gtA	p.V230V		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	230					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TTATCGCTGTCTTCTACTTCC	0.567																																					p.V230V		Atlas-SNP	.											.	CXCR7	72	.	0			c.C690A						PASS	.						102	86	92					2																	237489798		2203	4300	6503	SO:0001819	synonymous_variant	57007	exon2			CGCTGTCTTCTAC	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.690C>A	2.37:g.237489798C>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	115	24	0.208696	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	CCDS2516.1																																																																																			.	.	none		0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		A	237489798	C	A	237489798	2	1	32	1	0	0	0	0	0	0	0	1	4096	900	32	4		4	CXCR7	2	237489798	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	13701983	237489798	5709575	52	22829										
LRRN1	57633	hgsc.bcm.edu	37	chr3	3888234	3888234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagcccttgctgcagtaatgGggtctatgtttgccgtcatt	11	10	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:3888234G>C	ENST00000319331.3	+	2	2670	c.1909G>C	c.(1909-1911)Ggg>Cgg	p.G637R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	637						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCAGTAATGGGGTCTATGTT	0.428																																					p.G637R		Atlas-SNP	.											.	LRRN1	82	.	0			c.G1909C						PASS	.						92	90	91					3																	3888234		2203	4300	6503	SO:0001583	missense	57633	exon2			GTAATGGGGTCTA	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1909G>C	3.37:g.3888234G>C	ENSP00000314901:p.Gly637Arg	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	128	26	0.203125	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013600	0.75161	.	.	ENSG00000175928	ENST00000319331	T	0.43294	0.95	5.35	5.35	0.76521	.	0.101437	0.64402	D	0.000002	T	0.62429	0.2427	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.64618	-0.6365	10	0.87932	D	0	.	19.4437	0.94838	0.0:0.0:1.0:0.0	.	637	Q6UXK5	LRRN1_HUMAN	R	637	ENSP00000314901:G637R	ENSP00000314901:G637R	G	+	1	0	LRRN1	3863234	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.338000	0.96553	2.661000	0.90470	0.650000	0.86243	GGG	.	.	none		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		C	3888234	G	C	3888234	3	2	32	1	0	0	0	0	1	0	0	0	9034	1232	43	4	1911	4	LRRN1	3	3888234	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		3888234	194134196	53	22830										
KCNH8	131096	hgsc.bcm.edu	37	chr3	19322823	19322823	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccagaagataaaaaagaaggTttgtaccgttttcagaaaac	8	6	1	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:19322823T>C	ENST00000328405.2	+	3	708		c.e3+2			NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8						potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAAAGAAGGTTTGTACCGTT	0.308																																					.	NSCLC(124;1625 1765 8018 24930 42026)	Atlas-SNP	.											.	KCNH8	189	.	0			c.442+2T>C						PASS	.						65	72	69					3																	19322823		2203	4297	6500	SO:0001630	splice_region_variant	131096	exon3			AGAAGGTTTGTAC	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.442+2T>C	3.37:g.19322823T>C		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	129	39	0.302326	NM_144633	B7Z2I7|Q59GQ6	Splice_Site	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487429	0.84854	.	.	ENSG00000183960	ENST00000328405	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH8	19297827	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	.	.	.	none		0.308	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	Intron	C	19322823	T	C	19322823	5	2	32	1	0	0	0	0	0	0	1	0	8038	1739	60	2	454	2	KCNH8	3	19322823	Splice_Site	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	15434589	19322823	178699607	54	22831										
ZNF445	353274	hgsc.bcm.edu	37	chr3	44488625	44488625	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttttacgtgtaaaggttttCccacattcttgacaccaaaa	5	10	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:44488625C>A	ENST00000396077.2	-	8	2885	c.2538G>T	c.(2536-2538)ggG>ggT	p.G846G	ZNF445_ENST00000425708.2_Silent_p.G846G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	846					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TAAAGGTTTTCCCACATTCTT	0.373																																					p.G846G		Atlas-SNP	.											.	ZNF445	91	.	0			c.G2538T						PASS	.						126	131	129					3																	44488625		2203	4300	6503	SO:0001819	synonymous_variant	353274	exon8			GGTTTTCCCACAT	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2538G>T	3.37:g.44488625C>A		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	235	75	0.319149	NM_181489	Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																			.	.	none		0.373	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		A	44488625	C	A	44488625	2	1	32	1	0	0	0	0	0	0	0	1	17915	842	30	4		4	ZNF445	3	44488625	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	25165802	44488625	153533805	55	22832										
ZNF501	115560	hgsc.bcm.edu	37	chr3	44776170	44776170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgtaatgaatgtgagaaagCctttcaaacaaaagcaattc	7	6	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:44776170C>T	ENST00000396048.2	+	3	694	c.257C>T	c.(256-258)gCc>gTc	p.A86V	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TGTGAGAAAGCCTTTCAAACA	0.368																																					p.A86V		Atlas-SNP	.											.	ZNF501	27	.	0			c.C257T						PASS	.						81	94	90					3																	44776170		2194	4297	6491	SO:0001583	missense	115560	exon3			AGAAAGCCTTTCA	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.257C>T	3.37:g.44776170C>T	ENSP00000379363:p.Ala86Val	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	94	16	0.170213	NM_001258280	B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370854	0.61624	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.01043	5.41	3.07	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.17312	0.475	0.26468	N	0.975336	D;D	0.71674	0.998;0.997	D;D	0.68483	0.948;0.958	T	0.55036	-0.8203	9	0.62326	D	0.03	.	10.2687	0.43470	0.0:0.7964:0.2036:0.0	.	86;86	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	V	86	ENSP00000379363:A86V	ENSP00000330388:A86V	A	+	2	0	ZNF501	44751174	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.075000	0.11431	1.717000	0.51406	0.563000	0.77884	GCC	.	.	none		0.368	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		T	44776170	C	T	44776170	3	4	32	1	0	0	0	0	1	0	0	0	17946	739	26	2	259	2	ZNF501	3	44776170	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	287545	44776170	153246260	56	22833										
CACNA2D2	9254	hgsc.bcm.edu	37	chr3	50405270	50405270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gatcctggtccctccacacaCgctctaccagctgctgcgtg	9	17	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:50405270C>T	ENST00000479441.1	-	26	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R736H|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R736H|XXcos-LUCA11.5_ENST00000606589.1_3'UTR|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R743H|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R743H|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R667H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R736H|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R736H			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	743					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCTCCACACACGCTCTACCAG	0.627																																					p.R743H		Atlas-SNP	.											CACNA2D2,colon,carcinoma,-1,2	CACNA2D2	82	2	0			c.G2228A						scavenged	.						72	57	62					3																	50405270		2203	4299	6502	SO:0001583	missense	9254	exon26			CACACACGCTCTA	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2228G>A	3.37:g.50405270C>T	ENSP00000418081:p.Arg743His	Somatic	132	1	0.00757576		WXS	Illumina HiSeq	Phase_I	134	21	0.156716	NM_001174051	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252687	0.59212	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.12	4.11	0.48088	.	0.233753	0.28572	N	0.014878	T	0.68632	0.3022	L	0.51422	1.61	0.09310	N	0.999998	P;D	0.57571	0.944;0.98	B;P	0.49708	0.321;0.62	T	0.62172	-0.6910	10	0.45353	T	0.12	-7.0292	9.6929	0.40139	0.0:0.8325:0.0:0.1675	.	743;736	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	H	743;736;736;667;743;736;736;743	ENSP00000407393:R743H;ENSP00000404631:R736H;ENSP00000266039:R736H;ENSP00000354228:R667H;ENSP00000390526:R743H;ENSP00000378519:R736H;ENSP00000390329:R736H;ENSP00000418081:R743H	ENSP00000266039:R736H	R	-	2	0	CACNA2D2	50380274	0.938000	0.31826	0.971000	0.41717	0.961000	0.63080	2.318000	0.43779	2.399000	0.81585	0.462000	0.41574	CGT	.	.	none		0.627	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50405270	C	T	50405270	3	4	32	1	0	0	0	0	1	0	0	0	2549	536	19	1	1286	1	CACNA2D2	3	50405270	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	5629100	50405270	147617160	57	22834										
MAGI1	9223	hgsc.bcm.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccagattttaaaaggatctgGttttttctggccagagctgt	10	7	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					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)	p.P789T(2)		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)		AAAGGATCTGGTTTTTTCTGG	0.567																																					p.P789T		Atlas-SNP	.											MAGI1_ENST00000402939,NS,lymphoid_neoplasm,0,4	MAGI1	481	4	2	Substitution - Missense(2)	large_intestine(2)	c.C2365A						PASS	.						96	96	96					3																	65376868		2203	4300	6503	SO:0001583	missense	9223	exon14			GATCTGGTTTTTT	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.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	138	45	0.326087	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA	.	.	none		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65376868	G	T	65376868	3	4	32	1	0	0	0	0	1	0	0	0	9190	1261	44	4	2297	4	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	14971598	65376868	132645562	58	22835										
FRMD4B	23150	hgsc.bcm.edu	37	chr3	69237039	69237039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgaggtactgaacttgatcGctgcccaggaaaagtgaagg	13	7	0	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:69237039G>A	ENST00000398540.3	-	19	1884	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	FRMD4B_ENST00000478263.1_Nonsense_Mutation_p.R253*|FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.R547*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	601					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GAACTTGATCGCTGCCCAGGA	0.378																																					p.R601X		Atlas-SNP	.											.	FRMD4B	90	.	0			c.C1801T						PASS	.						43	41	42					3																	69237039		1860	4089	5949	SO:0001587	stop_gained	23150	exon19			TTGATCGCTGCCC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1801C>T	3.37:g.69237039G>A	ENSP00000381549:p.Arg601*	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	110	24	0.218182	NM_015123	Q8TAI3	Nonsense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	37	6.631150	0.97718	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	.	.	.	6.02	4.21	0.49690	.	0.064071	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9519	8.9524	0.35796	0.0686:0.0:0.5937:0.3377	.	.	.	.	X	601;547;253	.	ENSP00000381549:R601X	R	-	1	2	FRMD4B	69319729	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.858000	0.39408	0.854000	0.35336	0.591000	0.81541	CGA	.	.	none		0.378	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			A	69237039	G	A	69237039	4	1	32	1	0	0	0	0	0	1	0	0	6052	1095	38	1	1323	1	FRMD4B	3	69237039	Nonsense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3860171	69237039	128785391	59	22836										
OR5H14	403273	hgsc.bcm.edu	37	chr3	97868377	97868377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttggtctgattgctgtcatcTggaaagaccctcatcttcat	8	10	6	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:97868377T>C	ENST00000437310.1	+	1	208	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	50						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGTCATCTGGAAAGACCC	0.403																																					p.W50R		Atlas-SNP	.											OR5H14,NS,malignant_melanoma,-2,1	OR5H14	56	1	0			c.T148C						scavenged	.						311	313	312					3																	97868377		2203	4300	6503	SO:0001583	missense	403273	exon1			GTCATCTGGAAAG		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.148T>C	3.37:g.97868377T>C	ENSP00000401706:p.Trp50Arg	Somatic	530	4	0.00754717		WXS	Illumina HiSeq	Phase_I	494	12	0.0242915	NM_001005514	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	3.061	-0.193169	0.06259	.	.	ENSG00000236032	ENST00000437310	T	0.03801	3.8	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.993003	0.08167	N	0.987570	T	0.06142	0.0159	N	0.10760	0.04	0.09310	N	1	D	0.56968	0.978	P	0.58266	0.836	T	0.50101	-0.8867	10	0.25106	T	0.35	.	8.4219	0.32705	0.0:0.0:0.0:1.0	.	50	A6NHG9	O5H14_HUMAN	R	50	ENSP00000401706:W50R	ENSP00000401706:W50R	W	+	1	0	OR5H14	99351067	0.000000	0.05858	0.995000	0.50966	0.396000	0.30629	-0.007000	0.12810	1.132000	0.42129	0.164000	0.16699	TGG	.	.	none		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97868377	T	C	97868377	3	2	32	1	0	0	0	0	1	0	0	0	11160	1580	55	3	150	3	OR5H14	3	97868377	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	28631338	97868377	100154053	60	22837										
GTPBP8	29083	hgsc.bcm.edu	37	chr3	112719765	112719765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgtaacaggaagtcttgactAatggttcccggtttagctga	11	7	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:112719765A>G	ENST00000383678.2	+	6	936	c.854A>G	c.(853-855)tAa>tGa	p.*285*	GTPBP8_ENST00000473129.1_Silent_p.*135*|GTPBP8_ENST00000383677.3_Silent_p.*252*|GTPBP8_ENST00000467752.1_Silent_p.*174*	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	0					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGTCTTGACTAATGGTTCCCG	0.338																																					p.X285X		Atlas-SNP	.											.	GTPBP8	22	.	0			c.A854G						PASS	.						97	94	95					3																	112719765		2203	4300	6503	SO:0001819	synonymous_variant	29083	exon6			TTGACTAATGGTT	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.854A>G	3.37:g.112719765A>G		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	99	32	0.323232	NM_014170	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Silent	SNP	ENST00000383678.2	37	CCDS33820.1																																																																																			.	.	none		0.338	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		G	112719765	A	G	112719765	2	3	32	1	0	0	0	0	0	0	0	1	6884	369	13	2		2	GTPBP8	3	112719765	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	14851388	112719765	85302665	61	22838										
DTX3L	151636	hgsc.bcm.edu	37	chr3	122288596	122288596	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gttctgaggcctcagaactgGacaagaaggaaaagggcatc	13	8	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:122288596G>C	ENST00000296161.4	+	3	1849	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	554					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CTCAGAACTGGACAAGAAGGA	0.468																																					p.D554H		Atlas-SNP	.											.	DTX3L	59	.	0			c.G1660C						PASS	.						76	79	78					3																	122288596		2203	4300	6503	SO:0001583	missense	151636	exon3			GAACTGGACAAGA		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1660G>C	3.37:g.122288596G>C	ENSP00000296161:p.Asp554His	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	81	29	0.358025	NM_138287	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481645	0.12581	.	.	ENSG00000163840	ENST00000296161	T	0.68765	-0.35	1.83	0.902	0.19290	.	0.659026	0.14112	N	0.340641	T	0.57036	0.2026	L	0.57536	1.79	0.21697	N	0.99958	B	0.26635	0.155	B	0.27887	0.084	T	0.46898	-0.9158	10	0.33940	T	0.23	-3.1283	6.0444	0.19752	0.0:0.3269:0.6731:0.0	.	554	Q8TDB6	DTX3L_HUMAN	H	554	ENSP00000296161:D554H	ENSP00000296161:D554H	D	+	1	0	DTX3L	123771286	0.175000	0.23083	0.031000	0.17742	0.128000	0.20619	0.852000	0.27764	0.304000	0.22809	-0.315000	0.08773	GAC	.	.	none		0.468	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		C	122288596	G	C	122288596	3	2	32	1	0	0	0	0	1	0	0	0	4796	1174	41	4	1670	4	DTX3L	3	122288596	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	9568831	122288596	75733834	62	22839										
RAB6B	51560	hgsc.bcm.edu	37	chr3	133557035	133557035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcacgttgtagccagtcttcGcactggtctcaatgaacatg	9	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:133557035G>A	ENST00000285208.4	-	6	819	c.470C>T	c.(469-471)gCg>gTg	p.A157V	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.A144V|RAB6B_ENST00000543906.1_Missense_Mutation_p.A157V	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	157					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCCAGTCTTCGCACTGGTCTC	0.617																																					p.A157V		Atlas-SNP	.											RAB6B,NS,carcinoma,+1,1	RAB6B	36	1	0			c.C470T						PASS	.						167	153	158					3																	133557035		2203	4300	6503	SO:0001583	missense	51560	exon6			GTCTTCGCACTGG	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.470C>T	3.37:g.133557035G>A	ENSP00000285208:p.Ala157Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	63	21	0.333333	NM_016577	B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080334	0.94050	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.47	4.47	0.54385	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.96189	0.9136	10	0.87932	D	0	-3.3637	16.4243	0.83809	0.0:0.0:1.0:0.0	.	144;157	B7Z337;Q9NRW1	.;RAB6B_HUMAN	V	157;157;144;124	ENSP00000285208:A157V;ENSP00000437797:A157V;ENSP00000419381:A144V;ENSP00000419941:A124V	ENSP00000285208:A157V	A	-	2	0	RAB6B	135039725	1.000000	0.71417	0.282000	0.24776	0.841000	0.47740	8.857000	0.92250	2.490000	0.84030	0.655000	0.94253	GCG	.	.	none		0.617	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			A	133557035	G	A	133557035	3	1	32	1	0	0	0	0	1	0	0	0	12952	1087	38	1	168	1	RAB6B	3	133557035	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	11268439	133557035	64465395	63	22840										
ATR	545	hgsc.bcm.edu	37	chr3	142281284	142281284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acacagagtttttccagcagCatatttaaatagacaggttc	7	8	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:142281284C>A	ENST00000350721.4	-	4	1081	c.960G>T	c.(958-960)atG>atT	p.M320I	ATR_ENST00000383101.3_Missense_Mutation_p.M320I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	320					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCCAGCAGCATATTTAAAT	0.373								Other conserved DNA damage response genes																													p.M320I		Atlas-SNP	.											.	ATR	285	.	0			c.G960T						PASS	.						83	90	88					3																	142281284		2203	4300	6503	SO:0001583	missense	545	exon4			CAGCAGCATATTT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.960G>T	3.37:g.142281284C>A	ENSP00000343741:p.Met320Ile	Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	177	61	0.344633	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280953	0.40394	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.66099	-0.19;-0.19	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.486681	0.24384	N	0.038987	T	0.48484	0.1502	L	0.29908	0.895	0.27328	N	0.956866	B	0.02656	0.0	B	0.04013	0.001	T	0.27773	-1.0064	10	0.20046	T	0.44	-8.2121	13.1607	0.59542	0.0:0.9229:0.0:0.0771	.	320	Q13535	ATR_HUMAN	I	320;320;1	ENSP00000343741:M320I;ENSP00000372581:M320I	ENSP00000343741:M320I	M	-	3	0	ATR	143763974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.388000	0.52509	2.445000	0.82738	0.591000	0.81541	ATG	.	.	none		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142281284	C	A	142281284	3	1	32	1	0	0	0	0	1	0	0	0	1204	710	25	4	7150	4	ATR	3	142281284	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	8724249	142281284	55741146	64	22841										
PAK2	5062	hgsc.bcm.edu	37	chr3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttcataattctgaatcatgtCtgataacggagaactggaag	9	6	4	3	rs67093638		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																					p.S2C		Atlas-SNP	.											PAK2_ENST00000327134,NS,carcinoma,0,4	PAK2	113	4	2	Substitution - Missense(2)	prostate(2)	c.C5G						scavenged	.						81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062	exon2			TCATGTCTGATAA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys	Somatic	177	1	0.00564972		WXS	Illumina HiSeq	Phase_I	186	9	0.0483871	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT	C|0.986;G|0.014	0.014	strong		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	32	1	0	0	0	0	1	0	0	0	11401	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	54228238	196509522	1512908	65	22842										
EVC	2121	hgsc.bcm.edu	37	chr4	5811258	5811258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atttcaggaagctgaacagaActtcatctccgagctggcag	10	10	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:5811258A>C	ENST00000264956.6	+	19	2886	c.2702A>C	c.(2701-2703)aAc>aCc	p.N901T	EVC_ENST00000382674.2_Missense_Mutation_p.N901T	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	901					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCTGAACAGAACTTCATCTCC	0.537																																					p.N901T		Atlas-SNP	.											.	EVC	90	.	0			c.A2702C						PASS	.						93	81	85					4																	5811258		2203	4300	6503	SO:0001583	missense	2121	exon19			AACAGAACTTCAT	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2702A>C	4.37:g.5811258A>C	ENSP00000264956:p.Asn901Thr	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	55	18	0.327273	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.766954	0.00645	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.49432	0.78;0.78	4.78	-9.56	0.00566	.	0.707365	0.13224	N	0.404137	T	0.15825	0.0381	N	0.12182	0.205	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.13124	-1.0521	10	0.17832	T	0.49	.	1.2746	0.02027	0.3732:0.3068:0.1372:0.1828	.	901	P57679	EVC_HUMAN	T	901	ENSP00000264956:N901T;ENSP00000372120:N901T	ENSP00000264956:N901T	N	+	2	0	EVC	5862159	0.458000	0.25760	0.121000	0.21740	0.021000	0.10359	-0.389000	0.07342	-1.901000	0.01096	-1.151000	0.01829	AAC	.	.	none		0.537	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			C	5811258	A	C	5811258	3	2	32	1	0	0	0	0	1	0	0	0	5285	43	2	5	2776	5	EVC	4	5811258	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10		5811258	185343018	66	22843										
EVC	2121	hgsc.bcm.edu	37	chr4	5811337	5811337	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cctgctaagcgtgggctgctAggtgagtcacagatgcttga	14	9	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:5811337A>G	ENST00000264956.6	+	19	2965	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L	EVC_ENST00000382674.2_Splice_Site_p.L927L	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	927					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGGCTGCTAGGTGAGTCAc	0.542																																					p.L927L		Atlas-SNP	.											EVC,right_lower_lobe,carcinoma,0,1	EVC	90	1	0			c.A2781G						PASS	.						73	59	64					4																	5811337		2203	4300	6503	SO:0001630	splice_region_variant	2121	exon19			GCTGCTAGGTGAG	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2782+1A>G	4.37:g.5811337A>G		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	53	16	0.301887	NM_153717		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																			.	.	none		0.542	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		Silent	G	5811337	A	G	5811337	5	3	32	1	0	0	0	0	0	0	1	0	5285	434	15	3	2855	3	EVC	4	5811337	Splice_Site	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	79	5811337	185342939	67	22844										
SULT1B1	27284	hgsc.bcm.edu	37	chr4	70615486	70615486	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aggaagaagatcagtcggtaGatgtgttttcacaatccggg	13	6	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:70615486G>A	ENST00000310613.3	-	4	625	c.328C>T	c.(328-330)Cta>Tta	p.L110L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	110					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCAGTCGGTAGATGTGTTTTC	0.393																																					p.L110L		Atlas-SNP	.											.	SULT1B1	46	.	0			c.C328T						PASS	.						162	168	166					4																	70615486		2203	4300	6503	SO:0001819	synonymous_variant	27284	exon4			TCGGTAGATGTGT	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.328C>T	4.37:g.70615486G>A		Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	231	38	0.164502	NM_014465	O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	CCDS3530.1																																																																																			.	.	none		0.393	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		A	70615486	G	A	70615486	2	1	32	1	0	0	0	0	0	0	0	1	15373	933	33	2		2	SULT1B1	4	70615486	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	64804149	70615486	120538790	68	22845										
FAM190A	401145	hgsc.bcm.edu	37	chr4	91230610	91230610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctggggacaaactccccaaGgaaacttggattttatgagc	11	9	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:91230610G>A	ENST00000509176.1	+	2	1463	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	CCSER1_ENST00000333691.8_Missense_Mutation_p.R392K|CCSER1_ENST00000432775.2_Missense_Mutation_p.R392K	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	392																	AACTCCCCAAGGAAACTTGGA	0.393																																					p.R392K		Atlas-SNP	.											.	.	.	.	0			c.G1175A						PASS	.						124	120	121					4																	91230610		1849	4089	5938	SO:0001583	missense	401145	exon2			CCCCAAGGAAACT		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1175G>A	4.37:g.91230610G>A	ENSP00000425040:p.Arg392Lys	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	145	21	0.144828	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570881	0.13623	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.41065	1.55;1.01;1.55	4.96	3.24	0.37175	.	0.506740	0.20055	N	0.100219	T	0.21227	0.0511	N	0.25647	0.755	0.23126	N	0.998254	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30679	-0.9970	10	0.02654	T	1	-11.0531	4.6727	0.12698	0.3615:0.1536:0.4849:0.0	.	392;392;392	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	K	392	ENSP00000425040:R392K;ENSP00000389283:R392K;ENSP00000329482:R392K	ENSP00000329482:R392K	R	+	2	0	FAM190A	91449633	0.991000	0.36638	0.994000	0.49952	0.436000	0.31835	0.953000	0.29162	0.769000	0.33313	0.585000	0.79938	AGG	.	.	none		0.393	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		A	91230610	G	A	91230610	3	1	32	1	0	0	0	0	1	0	0	0	5521	1000	35	2	1177	2	FAM190A	4	91230610	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	20615124	91230610	99923666	69	22846										
C4orf17	84103	hgsc.bcm.edu	37	chr4	100461611	100461618	+	Splice_Site	DEL	AGGTTAAG	AGGTTAAG	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaaaacaaggaagtaccaaaAggttaagtacagtttttggt							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	AGGTTAAG	AGGTTAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:100461611_100461618delAGGTTAAG	ENST00000326581.4	+	8	1241_1242	c.879_880delAGGTTAAG	c.(877-882)aaaggt>aagt	p.G294fs	C4orf17_ENST00000514652.1_Stop_Codon_Del	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	294										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGTACCAAAAGGTTAAGTACAGTTTTT	0.317																																					p.293_294del		Pindel,Atlas-Indel	.											.	C4orf17	42	.	0			c.878_880del						PASS	.																																			SO:0001630	splice_region_variant	84103	exon8			.	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.880+1AGGTTAAG>-	4.37:g.100461611_100461618delAGGTTAAG		Somatic	137	.	.		WXS	Illumina HiSeq	Phase_I	114	25	0.219	NM_032149	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	In_Frame_Del	DEL	ENST00000326581.4	37	CCDS3649.1																																																																																			.	.	none		0.317	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149	Frame_Shift_Del	-	100461618	AGGTTAAG	-	100461611	8	5	32	1	0	1	0	1	0	0	1	0	2252	86	3	0	905	0	C4orf17	4	100461611	Splice_Site	DEL	AGGTTAAG	TCGA-GS-A9TW-01A-11D-A382-10	9231001	100461611	90692665	70	22847										
MANBA	4126	hgsc.bcm.edu	37	chr4	103585914	103585914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgtagattggccggtcagtGaaactgatatgataccaatt	10	6	1	4	rs547084645		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:103585914G>A	ENST00000226578.4	-	11	1512	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	MANBA_ENST00000505239.1_Silent_p.F414F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	471					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCCGGTCAGTGAAACTGATAT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16638	0.0		0.0	False		,,,				2504	0.001				p.F471F		Atlas-SNP	.											.	MANBA	78	.	0			c.C1413T						PASS	.						130	124	126					4																	103585914		2203	4300	6503	SO:0001819	synonymous_variant	4126	exon11			GTCAGTGAAACTG		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1413C>T	4.37:g.103585914G>A		Somatic	288	0	0		WXS	Illumina HiSeq	Phase_I	251	79	0.314741	NM_005908	Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	CCDS3658.1																																																																																			.	.	none		0.388	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			A	103585914	G	A	103585914	2	1	32	1	0	0	0	0	0	0	0	1	9219	1281	45	2		2	MANBA	4	103585914	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3124303	103585914	87568362	71	22848										
QRFPR	84109	hgsc.bcm.edu	37	chr4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gggaaaactttgctttcttcCgcatcattgtaattcctgaa	7	9	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCTTTCTTCCGCATCATTGT	0.378																																					p.R371Q		Atlas-SNP	.											QRFPR,NS,carcinoma,-1,1	QRFPR	65	1	0			c.G1112A						scavenged	.						192	190	191					4																	122250653		2203	4300	6503	SO:0001583	missense	84109	exon6			TTCTTCCGCATCA	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1112G>A	4.37:g.122250653C>T	ENSP00000377948:p.Arg371Gln	Somatic	385	1	0.0025974		WXS	Illumina HiSeq	Phase_I	298	28	0.0939597	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578442	0.03854	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.0	-1.01	0.10169	.	0.634163	0.16362	N	0.217722	T	0.34774	0.0909	N	0.02539	-0.55	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.25106	T	0.35	.	2.3119	0.04188	0.1146:0.2239:0.1177:0.5438	.	371	Q96P65	QRFPR_HUMAN	Q	371	ENSP00000377948:R371Q	ENSP00000377948:R371Q	R	-	2	0	QRFPR	122470103	0.949000	0.32298	0.157000	0.22605	0.088000	0.18126	0.537000	0.23144	0.018000	0.15052	-0.573000	0.04149	CGG	.	.	none		0.378	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		T	122250653	C	T	122250653	3	4	32	1	0	0	0	0	1	0	0	0	12878	652	23	1	187	1	QRFPR	4	122250653	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	18664739	122250653	68903623	72	22849										
KIAA0922	23240	hgsc.bcm.edu	37	chr4	154525477	154525477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccgagttcaaggaacgggagCtctgtccactgaagacctcc	11	13	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:154525477C>A	ENST00000409663.3	+	25	3362	c.3310C>A	c.(3310-3312)Ctc>Atc	p.L1104I	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1021I|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1105I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1104						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGAACGGGAGCTCTGTCCACT	0.428																																					p.L1105I		Atlas-SNP	.											.	KIAA0922	214	.	0			c.C3313A						PASS	.						52	53	52					4																	154525477		2203	4300	6503	SO:0001583	missense	23240	exon25			CGGGAGCTCTGTC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3310C>A	4.37:g.154525477C>A	ENSP00000386574:p.Leu1104Ile	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	204	55	0.269608	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037062	0.19669	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.20069	2.38;2.1;2.37;2.11	5.79	4.95	0.65309	.	0.405134	0.27886	N	0.017441	T	0.20088	0.0483	L	0.44542	1.39	0.23238	N	0.998066	P;B;B	0.44281	0.831;0.136;0.083	P;B;B	0.45610	0.487;0.071;0.032	T	0.09684	-1.0663	10	0.22706	T	0.39	-4.7104	7.468	0.27332	0.0:0.6985:0.1573:0.1442	.	1021;1105;1104	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	1104;1021;1105;882	ENSP00000386574:L1104I;ENSP00000409663:L1021I;ENSP00000386787:L1105I;ENSP00000240487:L882I	ENSP00000240487:L882I	L	+	1	0	KIAA0922	154744927	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	0.619000	0.24388	1.434000	0.47414	0.655000	0.94253	CTC	.	.	none		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		A	154525477	C	A	154525477	3	1	32	1	0	0	0	0	1	0	0	0	8201	797	28	4	3411	4	KIAA0922	4	154525477	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	32274824	154525477	36628799	73	22850										
ACCN5	51802	hgsc.bcm.edu	37	chr4	156757920	156757920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggaaaagaggaataagaaaTagtggccgggtattctattt	12	3	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr4:156757920T>G	ENST00000537611.2	-	8	1202	c.1156A>C	c.(1156-1158)Att>Ctt	p.I386L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	386					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GAATAAGAAATAGTGGCCGGG	0.358																																					p.I386L		Atlas-SNP	.											.	.	.	.	0			c.A1156C						PASS	.						72	80	77					4																	156757920		2203	4300	6503	SO:0001583	missense	51802	exon8			AAGAAATAGTGGC	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1156A>C	4.37:g.156757920T>G	ENSP00000442477:p.Ile386Leu	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	138	46	0.333333	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350945	0.24512	.	.	ENSG00000256394	ENST00000537611	T	0.61742	0.08	4.8	-0.965	0.10323	.	0.519192	0.17888	N	0.158638	T	0.34193	0.0889	N	0.20483	0.58	0.09310	N	0.999997	B	0.09022	0.002	B	0.15484	0.013	T	0.14924	-1.0455	10	0.22706	T	0.39	-13.9873	6.8804	0.24170	0.0:0.2563:0.1169:0.6268	.	386	Q9NY37	ACCN5_HUMAN	L	386	ENSP00000442477:I386L	ENSP00000264432:I386L	I	-	1	0	ACCN5	156977370	0.013000	0.17824	0.049000	0.19019	0.972000	0.66771	-0.092000	0.11129	-0.199000	0.10317	0.533000	0.62120	ATT	.	.	none		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			G	156757920	T	G	156757920	3	3	32	1	0	0	0	0	1	0	0	0	132	1406	49	5	373	5	ACCN5	4	156757920	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	2232443	156757920	34396356	74	22851										
IRX2	153572	hgsc.bcm.edu	37	chr5	2749795	2749795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggcgtcccgcgtggcgttcTtgcggtacgcggggtcgttg	18	11	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:2749795T>C	ENST00000382611.6	-	2	604	c.356A>G	c.(355-357)aAg>aGg	p.K119R	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.K119R|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	119					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTGGCGTTCTTGCGGTACGC	0.667																																					p.K119R		Atlas-SNP	.											.	IRX2	60	.	0			c.A356G						PASS	.						125	99	108					5																	2749795		2203	4300	6503	SO:0001583	missense	153572	exon2			GCGTTCTTGCGGT	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.356A>G	5.37:g.2749795T>C	ENSP00000372056:p.Lys119Arg	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	137	28	0.20438	NM_001134222	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	T	33	5.248878	0.95305	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83419	-1.72;-1.72;-1.72	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.82193	2.58	0.80722	D	1	P	0.44478	0.836	P	0.53490	0.727	D	0.88990	0.3414	10	0.40728	T	0.16	-25.838	14.441	0.67318	0.0:0.0:0.0:1.0	.	119	Q9BZI1	IRX2_HUMAN	R	119;119;26	ENSP00000372056:K119R;ENSP00000307006:K119R;ENSP00000426151:K26R	ENSP00000307006:K119R	K	-	2	0	IRX2	2802795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.663000	0.83820	1.817000	0.53016	0.533000	0.62120	AAG	.	.	none		0.667	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			C	2749795	T	C	2749795	3	2	32	1	0	0	0	0	1	0	0	0	7844	1609	56	3	1071	3	IRX2	5	2749795	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10		2749795	178165465	75	22852										
ISL1	3670	hgsc.bcm.edu	37	chr5	50683348	50683348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tacgggatcaaatgcgccaaGtgcagcatcggcttcagcaa	11	11	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:50683348G>A	ENST00000230658.7	+	3	828	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.K81K	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	81	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AATGCGCCAAGTGCAGCATCG	0.627																																					p.K81K		Atlas-SNP	.											.	ISL1	65	.	0			c.G243A						PASS	.						35	37	37					5																	50683348		2052	4189	6241	SO:0001819	synonymous_variant	3670	exon3			CGCCAAGTGCAGC	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.243G>A	5.37:g.50683348G>A		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	147	18	0.122449	NM_002202	P20663|P47894	Silent	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283104	0.23392	.	.	ENSG00000016082	ENST00000505475	T	0.56776	0.44	5.51	4.61	0.57282	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63616	-0.6597	6	0.87932	D	0	.	8.5384	0.33377	0.2478:0.0:0.7522:0.0	.	.	.	.	M	28	ENSP00000421737:V28M	ENSP00000421737:V28M	V	+	1	0	ISL1	50719105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.379000	0.34340	1.272000	0.44329	0.505000	0.49811	GTG	.	.	none		0.627	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		A	50683348	G	A	50683348	2	1	32	1	0	0	0	0	0	0	0	1	7856	1020	36	2		2	ISL1	5	50683348	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	47933553	50683348	130231912	76	22853										
ZNF366	167465	hgsc.bcm.edu	37	chr5	71756780	71756780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaaggggaacatgaggcccgGgtggactttggggtagtagg	20	5	0	1	rs140439481	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:71756780G>C	ENST00000318442.5	-	2	1034	c.544C>G	c.(544-546)Ccg>Gcg	p.P182A		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	182					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATGAGGCCCGGGTGGACTTTG	0.672													G|||	4	0.000798722	0.003	0.0	5008	,	,		16364	0.0		0.0	False		,,,				2504	0.0				p.P182A		Atlas-SNP	.											.	ZNF366	108	.	0			c.C544G						PASS	.	G	ALA/PRO	5,4401	9.9+/-24.2	0,5,2198	99	107	104		544	4.1	0.8	5	dbSNP_134	104	0,8600		0,0,4300	yes	missense	ZNF366	NM_152625.1	27	0,5,6498	CC,CG,GG		0.0,0.1135,0.0384	possibly-damaging	182/745	71756780	5,13001	2203	4300	6503	SO:0001583	missense	167465	exon2			GGCCCGGGTGGAC	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.544C>G	5.37:g.71756780G>C	ENSP00000313158:p.Pro182Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	73	40	0.547945	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956642	0.53293	0.001135	0.0	ENSG00000178175	ENST00000318442	T	0.09445	2.98	5.92	4.06	0.47325	.	0.388965	0.25253	N	0.032014	T	0.10380	0.0254	L	0.34521	1.04	0.46927	D	0.999256	B	0.14012	0.009	B	0.12837	0.008	T	0.07121	-1.0789	10	0.27082	T	0.32	-27.0902	16.3517	0.83215	0.0:0.2494:0.7506:0.0	.	182	Q8N895	ZN366_HUMAN	A	182	ENSP00000313158:P182A	ENSP00000313158:P182A	P	-	1	0	ZNF366	71792536	1.000000	0.71417	0.812000	0.32479	0.962000	0.63368	6.566000	0.73978	0.769000	0.33313	0.561000	0.74099	CCG	G|1.000;C|0.000	0.000	strong		0.672	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			C	71756780	G	C	71756780	3	2	32	1	0	0	0	0	1	0	0	0	17867	1232	43	4	1706	4	ZNF366	5	71756780	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	21073432	71756780	109158480	77	22854										
TNPO1	3842	hgsc.bcm.edu	37	chr5	72189245	72189245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	caatatgaagctccagataaAgattttatgatagtggctct	8	6	1	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:72189245A>C	ENST00000337273.5	+	17	2364	c.1938A>C	c.(1936-1938)aaA>aaC	p.K646N	TNPO1_ENST00000506351.2_Missense_Mutation_p.K638N|TNPO1_ENST00000523768.1_Missense_Mutation_p.K596N|TNPO1_ENST00000454282.1_Missense_Mutation_p.K596N	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	646					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCCAGATAAAGATTTTATGA	0.373																																					p.K646N		Atlas-SNP	.											.	TNPO1	90	.	0			c.A1938C						PASS	.						56	59	58					5																	72189245		2203	4298	6501	SO:0001583	missense	3842	exon17			AGATAAAGATTTT	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1938A>C	5.37:g.72189245A>C	ENSP00000336712:p.Lys646Asn	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	105	13	0.12381	NM_002270	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388130	0.82902	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	H	0.95004	3.61	0.80722	D	1	D;D	0.67145	0.97;0.996	D;D	0.64776	0.92;0.929	T	0.79245	-0.1883	10	0.87932	D	0	-7.2071	12.0175	0.53321	0.9305:0.0:0.0695:0.0	.	596;646	Q92973-3;Q92973	.;TNPO1_HUMAN	N	646;596;596;638;157	ENSP00000336712:K646N;ENSP00000398524:K596N;ENSP00000428899:K596N;ENSP00000425118:K638N	ENSP00000336712:K646N	K	+	3	2	TNPO1	72225001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.461000	0.53035	2.260000	0.74910	0.528000	0.53228	AAA	.	.	none		0.373	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		C	72189245	A	C	72189245	3	2	32	1	0	0	0	0	1	0	0	0	16332	69	3	5	2004	5	TNPO1	5	72189245	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	432465	72189245	108726015	78	22855										
AP3B1	8546	hgsc.bcm.edu	37	chr5	77412011	77412011	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gattcagaataaaacttcttAgcagaattctcttgctttgc	6	8	3	2	rs42360	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:77412011A>T	ENST00000255194.6	-	18	2191	c.2016T>A	c.(2014-2016)gcT>gcA	p.A672A	AP3B1_ENST00000519295.1_Silent_p.A623A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	672					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAAACTTCTTAGCAGAATTCT	0.338									Hermansky-Pudlak syndrome																												p.A672A		Atlas-SNP	.											AP3B1,NS,carcinoma,0,1	AP3B1	94	1	0			c.T2016A						PASS	.						87	91	89					5																	77412011		2203	4300	6503	SO:0001819	synonymous_variant	8546	exon18	Familial Cancer Database	HPS, HPS1-8	CTTCTTAGCAGAA	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2016T>A	5.37:g.77412011A>T		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	147	15	0.102041	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	CCDS4041.1																																																																																			A|0.776;C|0.001	.	alt		0.338	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			T	77412011	A	T	77412011	2	4	32	1	0	0	0	0	0	0	0	1	744	407	15	5		5	AP3B1	5	77412011	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	5222766	77412011	103503249	79	22856										
GPR98	84059	hgsc.bcm.edu	37	chr5	90052843	90052843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaggtgcctccacccttgaaCgttcttcaagttcctgtagt	9	12	2	1	rs144269892	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:90052843C>T	ENST00000405460.2	+	57	11901	c.11805C>T	c.(11803-11805)aaC>aaT	p.N3935N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3935	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCCTTGAACGTTCTTCAAG	0.443													C|||	6	0.00119808	0.0045	0.0	5008	,	,		15792	0.0		0.0	False		,,,				2504	0.0				p.N3935N		Atlas-SNP	.											.	GPR98	605	.	0			c.C11805T						PASS	.	C		10,3696		0,10,1843	101	98	99		11805	-9.8	0	5	dbSNP_134	99	0,8178		0,0,4089	no	coding-synonymous	GPR98	NM_032119.3		0,10,5932	TT,TC,CC		0.0,0.2698,0.0841		3935/6307	90052843	10,11874	1853	4089	5942	SO:0001819	synonymous_variant	84059	exon57			CTTGAACGTTCTT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11805C>T	5.37:g.90052843C>T		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	192	26	0.135417	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	4	0.0018315018315018315	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	1.028	-0.682857	0.03353	0.002698	0.0	ENSG00000164199	ENST00000509621	.	.	.	5.3	-9.79	0.00494	.	.	.	.	.	T	0.63745	0.2537	.	.	.	0.35190	D	0.773244	.	.	.	.	.	.	T	0.71297	-0.4635	4	.	.	.	.	19.5309	0.95228	0.0:0.1654:0.0:0.8346	.	.	.	.	M	1501	.	.	T	+	2	0	GPR98	90088599	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-0.645000	0.05409	-2.179000	0.00767	-0.670000	0.03821	ACG	C|0.998;T|0.002	0.002	strong		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90052843	C	T	90052843	2	4	32	1	0	0	0	0	0	0	0	1	6721	535	19	1		1	GPR98	5	90052843	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	12640832	90052843	90862417	80	22857										
GPR98	84059	hgsc.bcm.edu	37	chr5	90151709	90151709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcttcacttctggatttataTgtatctcaggtcagtgacag	8	8	5	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:90151709T>C	ENST00000405460.2	+	82	17842	c.17746T>C	c.(17746-17748)Tgt>Cgt	p.C5916R	GPR98_ENST00000425867.2_Missense_Mutation_p.C1577R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5916					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATTTATATGTATCTCAGG	0.363																																					p.C5916R		Atlas-SNP	.											.	GPR98	605	.	0			c.T17746C						PASS	.						158	146	150					5																	90151709		1888	4110	5998	SO:0001583	missense	84059	exon82			TTTATATGTATCT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17746T>C	5.37:g.90151709T>C	ENSP00000384582:p.Cys5916Arg	Somatic	230	0	0		WXS	Illumina HiSeq	Phase_I	225	115	0.511111	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817395	0.70912	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.43294	0.95;0.95	5.49	5.49	0.81192	GPCR, family 2-like (1);	0.041679	0.85682	D	0.000000	T	0.60117	0.2244	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.71414	0.96;0.973;0.933	T	0.58858	-0.7562	9	.	.	.	.	15.8828	0.79216	0.0:0.0:0.0:1.0	.	1577;5916;1577	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	5916;5916;1577	ENSP00000384582:C5916R;ENSP00000392618:C1577R	.	C	+	1	0	GPR98	90187465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.552000	0.67281	2.213000	0.71641	0.477000	0.44152	TGT	.	.	none		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90151709	T	C	90151709	3	2	32	1	0	0	0	0	1	0	0	0	6721	1464	51	2	18072	2	GPR98	5	90151709	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	98866	90151709	90763551	81	22858										
SLC22A4	6583	hgsc.bcm.edu	37	chr5	131630330	131630330	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgcgggactacgacgaggtGatcgccttcctgggcgagtg	16	10	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:131630330G>A	ENST00000200652.3	+	1	195	c.21G>A	c.(19-21)gtG>gtA	p.V7V	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	7					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ACGACGAGGTGATCGCCTTCC	0.592																																					p.V7V		Atlas-SNP	.											.	SLC22A4	45	.	0			c.G21A						PASS	.						78	84	82					5																	131630330		2203	4300	6503	SO:0001819	synonymous_variant	6583	exon1			CGAGGTGATCGCC	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.21G>A	5.37:g.131630330G>A		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	107	15	0.140187	NM_003059	O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																			.	.	none		0.592	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		A	131630330	G	A	131630330	2	1	32	1	0	0	0	0	0	0	0	1	14456	1277	45	2		2	SLC22A4	5	131630330	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	41478621	131630330	49284930	82	22859										
ABLIM3	22885	hgsc.bcm.edu	37	chr5	148620293	148620293	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccagttagatgtgaggtcctCcactccaacctcttaccagg	8	14	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:148620293C>G	ENST00000506113.1	+	13	1741	c.1259C>G	c.(1258-1260)tCc>tGc	p.S420C	ABLIM3_ENST00000517451.1_5'Flank|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S420C|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	420					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGTCCTCCACTCCAACC	0.577																																					p.S420C		Atlas-SNP	.											.	ABLIM3	91	.	0			c.C1259G						PASS	.						126	116	119					5																	148620293		2203	4300	6503	SO:0001583	missense	22885	exon14			GGTCCTCCACTCC	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1259C>G	5.37:g.148620293C>G	ENSP00000425394:p.Ser420Cys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	71	43	0.605634	NM_014945	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221000	0.79464	.	.	ENSG00000173210	ENST00000309868;ENST00000506113	T;T	0.45276	0.9;0.9	5.73	5.73	0.89815	.	0.304822	0.35970	N	0.002864	T	0.52996	0.1769	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	P	0.58721	0.844	T	0.48833	-0.9000	10	0.52906	T	0.07	.	19.8552	0.96755	0.0:1.0:0.0:0.0	.	420	O94929	ABLM3_HUMAN	C	420	ENSP00000310309:S420C;ENSP00000425394:S420C	ENSP00000310309:S420C	S	+	2	0	ABLIM3	148600486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.375000	0.52410	2.861000	0.98227	0.655000	0.94253	TCC	.	.	none		0.577	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		G	148620293	C	G	148620293	3	3	32	1	0	0	0	0	1	0	0	0	96	855	30	4	1309	4	ABLIM3	5	148620293	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	16989963	148620293	32294967	83	22860										
ATP10B	23120	hgsc.bcm.edu	37	chr5	160025799	160025799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagagttctggccactcttgTatagctcaggcaatgccagg	11	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:160025799T>G	ENST00000327245.5	-	22	4388	c.3542A>C	c.(3541-3543)tAc>tCc	p.Y1181S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1181					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACTCTTGTATAGCTCAGG	0.493																																					p.Y1181S		Atlas-SNP	.											.	ATP10B	201	.	0			c.A3542C						PASS	.						268	254	258					5																	160025799		1939	4133	6072	SO:0001583	missense	23120	exon22			CTCTTGTATAGCT	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3542A>C	5.37:g.160025799T>G	ENSP00000313600:p.Tyr1181Ser	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	117	14	0.119658	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698292	0.88830	.	.	ENSG00000118322	ENST00000327245	T	0.75821	-0.97	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95706	0.8753	9	.	.	.	.	14.8727	0.70471	0.0:0.0:0.0:1.0	.	1181	O94823	AT10B_HUMAN	S	1181	ENSP00000313600:Y1181S	.	Y	-	2	0	ATP10B	159958377	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.946000	0.87746	2.107000	0.64212	0.533000	0.62120	TAC	.	.	none		0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		G	160025799	T	G	160025799	3	3	32	1	0	0	0	0	1	0	0	0	1117	1638	57	5	863	5	ATP10B	5	160025799	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	11405506	160025799	20889461	84	22861										
ATP10B	23120	hgsc.bcm.edu	37	chr5	160047422	160047422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggtgtagacaacaatctcgCcagtcagtgggtgcctcaca	11	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:160047422C>T	ENST00000327245.5	-	15	3194	c.2348G>A	c.(2347-2349)gGc>gAc	p.G783D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	783					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAATCTCGCCAGTCAGTGG	0.592																																					p.G783D		Atlas-SNP	.											.	ATP10B	201	.	0			c.G2348A						PASS	.						52	55	54					5																	160047422		2094	4205	6299	SO:0001583	missense	23120	exon15			ATCTCGCCAGTCA	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2348G>A	5.37:g.160047422C>T	ENSP00000313600:p.Gly783Asp	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	141	15	0.106383	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	0.612	-0.824493	0.02755	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.71934	-0.61;-0.61	5.48	1.49	0.22878	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.165400	0.05887	N	0.627584	T	0.56381	0.1981	L	0.31476	0.935	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.12156	0.007;0.005	T	0.39014	-0.9634	9	.	.	.	.	5.6592	0.17660	0.0:0.5569:0.1414:0.3017	.	391;783	Q2YDW8;O94823	.;AT10B_HUMAN	D	783;391	ENSP00000313600:G783D;ENSP00000431081:G391D	.	G	-	2	0	ATP10B	159980000	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	0.064000	0.14437	0.680000	0.31366	0.644000	0.83932	GGC	.	.	none		0.592	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160047422	C	T	160047422	3	4	32	1	0	0	0	0	1	0	0	0	1117	739	26	2	2085	2	ATP10B	5	160047422	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	21623	160047422	20867838	85	22862										
CLTB	1212	hgsc.bcm.edu	37	chr5	175824641	175824641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgttcttctctacttgttcaCtctggcgctggttccactcc	7	14	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:175824641C>T	ENST00000310418.4	-	4	636	c.431G>A	c.(430-432)aGt>aAt	p.S144N	CLTB_ENST00000345807.2_Missense_Mutation_p.S144N	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	144	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TACTTGTTCACTCTGGCGCTG	0.572																																					p.S144N		Atlas-SNP	.											.	CLTB	17	.	0			c.G431A						PASS	.						207	186	193					5																	175824641		2203	4300	6503	SO:0001583	missense	1212	exon4			TGTTCACTCTGGC	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.431G>A	5.37:g.175824641C>T	ENSP00000309415:p.Ser144Asn	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	133	15	0.112782	NM_001834	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	c	8.653	0.898825	0.17686	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.16	3.11	0.35812	.	0.215561	0.49916	D	0.000121	T	0.11707	0.0285	N	0.01515	-0.825	0.33890	D	0.637256	B;B	0.13145	0.001;0.007	B;B	0.16289	0.003;0.015	T	0.31752	-0.9932	9	0.02654	T	1	.	5.0552	0.14529	0.0:0.6844:0.0:0.3156	.	144;144	P09497-2;P09497	.;CLCB_HUMAN	N	144	.	ENSP00000309415:S144N	S	-	2	0	CLTB	175757247	0.306000	0.24490	0.999000	0.59377	0.974000	0.67602	0.716000	0.25836	1.850000	0.53721	0.298000	0.19748	AGT	.	.	none		0.572	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			T	175824641	C	T	175824641	3	4	32	1	0	0	0	0	1	0	0	0	3565	565	20	2	270	2	CLTB	5	175824641	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	15777219	175824641	5090619	86	22863										
FAF2	23197	hgsc.bcm.edu	37	chr5	175913491	175913491	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tctcaagacctcaaccaaggGcaagttatttcatagctggg	9	10	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr5:175913491G>A	ENST00000261942.6	+	3	320		c.e3+1		FAF2_ENST00000510446.1_Splice_Site	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2						lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCAACCAAGGGCAAGTTATTT	0.418																																					.		Atlas-SNP	.											.	FAF2	38	.	0			c.267+1G>A						PASS	.						114	99	104					5																	175913491		2203	4300	6503	SO:0001630	splice_region_variant	23197	exon3			CCAAGGGCAAGTT	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.267+1G>A	5.37:g.175913491G>A		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	108	45	0.416667	NM_014613	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Splice_Site	SNP	ENST00000261942.6	37	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961376	0.92791	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAF2	175846097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.313000	0.96297	2.879000	0.98667	0.650000	0.86243	.	.	.	none		0.418	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613	Intron	A	175913491	G	A	175913491	5	1	32	1	0	0	0	0	0	0	1	0	5370	1217	42	2	278	2	FAF2	5	175913491	Splice_Site	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	88850	175913491	5001769	87	22864										
JARID2	3720	hgsc.bcm.edu	37	chr6	15504821	15504821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcctgccccagccgaaatcGaggtgagagaaggggcccct	14	13	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:15504821G>A	ENST00000341776.2	+	9	2783	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	JARID2_ENST00000541660.1_Missense_Mutation_p.E809K|JARID2_ENST00000397311.3_Missense_Mutation_p.E675K|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	847					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGCCGAAATCGAGGTGAGAGA	0.557																																					p.E847K		Atlas-SNP	.											.	JARID2	135	.	0			c.G2539A						PASS	.						51	56	54					6																	15504821		2203	4300	6503	SO:0001583	missense	3720	exon9			GAAATCGAGGTGA	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2539G>A	6.37:g.15504821G>A	ENSP00000341280:p.Glu847Lys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	43	23	0.534884	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552389	0.96501	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.96522	-3.28;-3.28;-4.04	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	D	0.99624	1.0984	10	0.87932	D	0	-21.4897	18.8078	0.92045	0.0:0.0:1.0:0.0	.	809;847	F5H590;Q92833	.;JARD2_HUMAN	K	847;675;809	ENSP00000341280:E847K;ENSP00000380478:E675K;ENSP00000444623:E809K	ENSP00000341280:E847K	E	+	1	0	JARID2	15612800	1.000000	0.71417	0.985000	0.45067	0.750000	0.42670	9.544000	0.98092	2.435000	0.82474	0.561000	0.74099	GAG	.	.	none		0.557	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		A	15504821	G	A	15504821	3	1	32	1	0	0	0	0	1	0	0	0	7945	1059	37	1	2573	1	JARID2	6	15504821	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		15504821	155610246	88	22865										
HIST1H3D	8351	hgsc.bcm.edu	37	chr6	26197219	26197219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcagcgccatcaccgccgagCtctgaaaacgcagatcagtc	10	15	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:26197219C>G	ENST00000356476.2	-	1	259	c.260G>C	c.(259-261)aGc>aCc	p.S87T	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.S87T			P68431	H31_HUMAN	histone cluster 1, H3d	87					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CACCGCCGAGCTCTGAAAACG	0.587																																					p.S87T	GBM(108;3816 4467)	Atlas-SNP	.											.	HIST1H3D	31	.	0			c.G260C						PASS	.						74	72	73					6																	26197219		2203	4300	6503	SO:0001583	missense	8351	exon2			GCCGAGCTCTGAA	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.260G>C	6.37:g.26197219C>G	ENSP00000366999:p.Ser87Thr	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	132	21	0.159091	NM_003530	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325234	0.24080	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.71341	-0.56;-0.56	4.28	3.41	0.39046	.	.	.	.	.	T	0.63295	0.2499	.	.	.	0.31814	N	0.6269	.	.	.	.	.	.	T	0.63001	-0.6734	6	0.66056	D	0.02	.	11.3981	0.49854	0.0:0.9105:0.0:0.0895	.	.	.	.	T	87	ENSP00000366999:S87T;ENSP00000367062:S87T	ENSP00000366999:S87T	S	-	2	0	HIST1H3D	26305198	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	7.428000	0.80296	0.915000	0.36847	0.655000	0.94253	AGC	.	.	none		0.587	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		G	26197219	C	G	26197219	3	3	32	1	0	0	0	0	1	0	0	0	7158	797	28	4	154	4	HIST1H3D	6	26197219	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	10692398	26197219	144917848	89	22866										
ABT1	29777	hgsc.bcm.edu	37	chr6	26598677	26598677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccctgctcgcccagatggctCctggacatttgcccagcgtc	10	17	0	1	rs367868700		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:26598677C>T	ENST00000274849.1	+	3	654	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAGATGGCTCCTGGACATTT	0.617																																					p.S208F		Atlas-SNP	.											.	ABT1	39	.	0			c.C623T						PASS	.						37	39	38					6																	26598677		2203	4300	6503	SO:0001583	missense	29777	exon3			ATGGCTCCTGGAC	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.623C>T	6.37:g.26598677C>T	ENSP00000274849:p.Ser208Phe	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	116	51	0.439655	NM_013375		Missense_Mutation	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080257	0.76528	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.49	5.49	0.81192	.	0.354787	0.30602	N	0.009280	T	0.61400	0.2344	L	0.57536	1.79	0.42957	D	0.994399	P	0.41569	0.755	P	0.48141	0.568	T	0.64812	-0.6319	9	0.59425	D	0.04	-9.8858	17.2409	0.87013	0.0:1.0:0.0:0.0	.	208	Q9ULW3	ABT1_HUMAN	F	208	.	ENSP00000274849:S208F	S	+	2	0	ABT1	26706656	0.982000	0.34865	0.938000	0.37757	0.698000	0.40448	1.381000	0.34362	2.741000	0.93983	0.655000	0.94253	TCC	.	.	alt		0.617	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			T	26598677	C	T	26598677	3	4	32	1	0	0	0	0	1	0	0	0	101	855	30	2	633	2	ABT1	6	26598677	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	401458	26598677	144516390	90	22867										
KCTD20	222658	hgsc.bcm.edu	37	chr6	36447473	36447473	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	attttgacttcaacactatcCgatgtcaagatctgagtaag	7	8	3	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:36447473C>T	ENST00000373731.2	+	5	1034	c.643C>T	c.(643-645)Cga>Tga	p.R215*	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000536244.1_Nonsense_Mutation_p.R70*|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	215					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAACACTATCCGATGTCAAGA	0.378																																					p.R215X		Atlas-SNP	.											KCTD20,rectum,carcinoma,-1,1	KCTD20	37	1	0			c.C643T						PASS	.						78	72	74					6																	36447473		2203	4300	6503	SO:0001587	stop_gained	222658	exon5			ACTATCCGATGTC	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.643C>T	6.37:g.36447473C>T	ENSP00000362836:p.Arg215*	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	29	0.453125	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Nonsense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	C	37	6.388762	0.97529	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	.	.	.	4.72	2.74	0.32292	.	0.178769	0.34700	N	0.003742	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-9.9284	11.2051	0.48765	0.5758:0.4242:0.0:0.0	.	.	.	.	X	215;70	.	ENSP00000362836:R215X	R	+	1	2	KCTD20	36555451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.532000	0.60608	1.189000	0.43028	0.591000	0.81541	CGA	.	.	none		0.378	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		T	36447473	C	T	36447473	4	4	32	1	0	0	0	0	0	1	0	0	8108	644	23	1	657	1	KCTD20	6	36447473	Nonsense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	9848796	36447473	134667594	91	22868										
HSP90AB1	3326	hgsc.bcm.edu	37	chr6	44218144	44218144	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagatcgaagatgtgggttcAgatgaggaggatgacagcgg	17	4	1	5			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:44218144A>C	ENST00000371554.1	+	6	979	c.765A>C	c.(763-765)tcA>tcC	p.S255S	HSP90AB1_ENST00000371646.5_Silent_p.S255S|HSP90AB1_ENST00000353801.3_Silent_p.S255S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	255					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			atgtgggttcagatgaggagg	0.383																																					p.S255S		Atlas-SNP	.											.	HSP90AB1	83	.	0			c.A765C						PASS	.						52	52	52					6																	44218144		2203	4300	6503	SO:0001819	synonymous_variant	3326	exon6			GGGTTCAGATGAG	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.765A>C	6.37:g.44218144A>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	119	16	0.134454	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	CCDS4909.1																																																																																			.	.	none		0.383	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		C	44218144	A	C	44218144	2	2	32	1	0	0	0	0	0	0	0	1	7402	175	7	5		5	HSP90AB1	6	44218144	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	7770671	44218144	126896923	92	22869										
AARS2	57505	hgsc.bcm.edu	37	chr6	44274068	44274068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagagtccgatcaatgatccGcctaccccgctccagggagg	11	15	1	2	rs143703625	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:44274068G>A	ENST00000244571.4	-	9	1251	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAATGATCCGCCTACCCCGC	0.597																																					p.R417W		Atlas-SNP	.											.	AARS2	77	.	0			c.C1249T						PASS	.						102	98	99					6																	44274068		2203	4300	6503	SO:0001583	missense	57505	exon9			TGATCCGCCTACC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1249C>T	6.37:g.44274068G>A	ENSP00000244571:p.Arg417Trp	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	72	12	0.166667	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830210	0.71258	.	.	ENSG00000124608	ENST00000244571	T	0.58940	0.3	4.41	4.41	0.53225	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.226724	0.43579	D	0.000545	T	0.74604	0.3738	M	0.91818	3.245	0.42141	D	0.991513	D	0.76494	0.999	P	0.59643	0.861	T	0.82458	-0.0447	10	0.87932	D	0	-10.4928	17.1894	0.86875	0.0:0.0:1.0:0.0	.	417	Q5JTZ9	SYAM_HUMAN	W	417	ENSP00000244571:R417W	ENSP00000244571:R417W	R	-	1	2	AARS2	44382046	0.993000	0.37304	0.997000	0.53966	0.846000	0.48090	4.028000	0.57246	2.301000	0.77427	0.655000	0.94253	CGG	G|0.999;T|0.001	.	alt		0.597	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		A	44274068	G	A	44274068	3	1	32	1	0	0	0	0	1	0	0	0	20	1086	38	1	1764	1	AARS2	6	44274068	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	55924	44274068	126840999	93	22870										
BAI3	577	hgsc.bcm.edu	37	chr6	70098685	70098685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	caatcaatgtcttagacacaGaggcaaaggatgctttggaa	10	7	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:70098685G>A	ENST00000370598.1	+	32	5292	c.4471G>A	c.(4471-4473)Gag>Aag	p.E1491K	BAI3_ENST00000238918.8_Missense_Mutation_p.E697K|BAI3_ENST00000546190.1_Missense_Mutation_p.E455K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1491					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTAGACACAGAGGCAAAGGA	0.453																																					p.E1491K		Atlas-SNP	.											BAI3,colon,carcinoma,0,1	BAI3	451	1	0			c.G4471A						PASS	.						112	96	101					6																	70098685		2203	4300	6503	SO:0001583	missense	577	exon32			GACACAGAGGCAA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4471G>A	6.37:g.70098685G>A	ENSP00000359630:p.Glu1491Lys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	81	35	0.432099	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778507	0.49786	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.42513	2.13;2.73;0.97	5.94	5.94	0.96194	.	0.045450	0.85682	D	0.000000	T	0.16514	0.0397	N	0.19112	0.55	0.58432	D	0.999991	P;P	0.37781	0.608;0.608	B;B	0.29862	0.108;0.108	T	0.04427	-1.0952	10	0.21014	T	0.42	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	697;1491	B7Z356;O60242	.;BAI3_HUMAN	K	1491;697;455	ENSP00000359630:E1491K;ENSP00000238918:E697K;ENSP00000441821:E455K	ENSP00000238918:E697K	E	+	1	0	BAI3	70155406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.220000	0.95180	2.823000	0.97156	0.643000	0.83706	GAG	.	.	none		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	70098685	G	A	70098685	3	1	32	1	0	0	0	0	1	0	0	0	1300	943	33	2	4589	2	BAI3	6	70098685	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	25824617	70098685	101016382	94	22871										
RIMS1	22999	hgsc.bcm.edu	37	chr6	72596832	72596832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccgaagaggagaggaacattAtcatggcagtgatggaccgg	15	7	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:72596832A>G	ENST00000521978.1	+	1	106	c.106A>G	c.(106-108)Atc>Gtc	p.I36V	RIMS1_ENST00000517960.1_Missense_Mutation_p.I36V|RIMS1_ENST00000491071.2_Missense_Mutation_p.I36V|RIMS1_ENST00000264839.7_Missense_Mutation_p.I36V|RIMS1_ENST00000520567.1_Missense_Mutation_p.I36V|RIMS1_ENST00000522291.1_Missense_Mutation_p.I36V|RIMS1_ENST00000518273.1_Missense_Mutation_p.I36V|RIMS1_ENST00000348717.5_Missense_Mutation_p.I36V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	36	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGAACATTATCATGGCAGT	0.642																																					p.I36V		Atlas-SNP	.											.	RIMS1	278	.	0			c.A106G						PASS	.						40	51	48					6																	72596832		2097	4223	6320	SO:0001583	missense	22999	exon1			AACATTATCATGG	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.106A>G	6.37:g.72596832A>G	ENSP00000428417:p.Ile36Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	48	22	0.458333	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673997	0.47781	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.05	3.85	0.44370	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.48767	D	0.000176	D	0.84238	0.5428	M	0.84948	2.725	0.80722	D	1	P	0.51351	0.944	D	0.68621	0.959	D	0.85939	0.1457	10	0.72032	D	0.01	-4.4049	11.053	0.47901	0.8441:0.1559:0.0:0.0	.	36	Q86UR5	RIMS1_HUMAN	V	36	ENSP00000430101:I36V;ENSP00000275037:I36V;ENSP00000264839:I36V;ENSP00000429959:I36V;ENSP00000430408:I36V;ENSP00000430502:I36V;ENSP00000430932:I36V;ENSP00000428417:I36V	ENSP00000264839:I36V	I	+	1	0	RIMS1	72653553	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	8.781000	0.91805	0.730000	0.32425	0.454000	0.30748	ATC	.	.	none		0.642	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72596832	A	G	72596832	3	3	32	1	0	0	0	0	1	0	0	0	13367	449	16	2	108	2	RIMS1	6	72596832	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	2498147	72596832	98518235	95	22872										
NR2E1	7101	hgsc.bcm.edu	37	chr6	108499427	108499427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agtgtgccagccttctccacGctgtctttgcaagaccaggt	10	13	2	1	rs561977068	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:108499427G>A	ENST00000368986.4	+	5	1332	c.624G>A	c.(622-624)acG>acA	p.T208T	NR2E1_ENST00000368983.3_Silent_p.T245T	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	208	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCTTCTCCACGCTGTCTTTGC	0.507													G|||	8	0.00159744	0.0	0.0	5008	,	,		18263	0.0		0.0	False		,,,				2504	0.0082				p.T208T		Atlas-SNP	.											NR2E1,NS,carcinoma,0,1	NR2E1	57	1	0			c.G624A						PASS	.						98	81	87					6																	108499427		2203	4300	6503	SO:0001819	synonymous_variant	7101	exon5			CTCCACGCTGTCT	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.624G>A	6.37:g.108499427G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	89	19	0.213483	NM_003269	Q6ZMP8	Silent	SNP	ENST00000368986.4	37	CCDS5063.1																																																																																			.	.	none		0.507	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			A	108499427	G	A	108499427	2	1	32	1	0	0	0	0	0	0	0	1	10625	1074	38	1		1	NR2E1	6	108499427	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	35902595	108499427	62615640	96	22873										
REV3L	5980	hgsc.bcm.edu	37	chr6	111685068	111685068	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agttttacctcatgtaaagcTtttgcctcctgtaagttttg	7	8	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:111685068T>C	ENST00000358835.3	-	17	7321	c.6867A>G	c.(6865-6867)aaA>aaG	p.K2289K	REV3L_ENST00000435970.1_Silent_p.K2211K|REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000368802.3_Silent_p.K2289K|REV3L_ENST00000368805.1_Silent_p.K2289K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2289					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)		CATGTAAAGCTTTTGCCTCCT	0.333								DNA polymerases (catalytic subunits)																													p.K2289K		Atlas-SNP	.											.	REV3L	386	.	0			c.A6867G						PASS	.						178	160	166					6																	111685068		2202	4299	6501	SO:0001819	synonymous_variant	5980	exon16			TAAAGCTTTTGCC	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.6867A>G	6.37:g.111685068T>C		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	190	25	0.131579	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																			.	.	none		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		C	111685068	T	C	111685068	2	2	32	1	0	0	0	0	0	0	0	1	13240	1606	56	3		3	REV3L	6	111685068	Silent	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	3185641	111685068	59429999	97	22874										
FAM26E	254228	hgsc.bcm.edu	37	chr6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctcaccacatgttatgctcGctgccgatctaaagttagct	8	12	2	0	rs571775020		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.001				p.R202H		Atlas-SNP	.											FAM26E,NS,carcinoma,+1,1	FAM26E	26	1	0			c.G605A						PASS	.						154	155	155					6																	116836827		2203	4300	6503	SO:0001583	missense	254228	exon2			ATGCTCGCTGCCG	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.605G>A	6.37:g.116836827G>A	ENSP00000357588:p.Arg202His	Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	224	62	0.276786	NM_153711	B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158090	0.57368	.	.	ENSG00000178033	ENST00000368599	T	0.19250	2.16	6.03	6.03	0.97812	.	0.106321	0.64402	D	0.000002	T	0.23289	0.0563	L	0.43152	1.355	0.45464	D	0.99843	D	0.69078	0.997	P	0.58873	0.847	T	0.00436	-1.1740	10	0.46703	T	0.11	-4.565	12.8091	0.57629	0.0738:0.0:0.9262:0.0	.	202	Q8N5C1	FA26E_HUMAN	H	202	ENSP00000357588:R202H	ENSP00000357588:R202H	R	+	2	0	FAM26E	116943520	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	6.809000	0.75211	2.854000	0.98071	0.655000	0.94253	CGC	.	.	none		0.413	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		A	116836827	G	A	116836827	3	1	32	1	0	0	0	0	1	0	0	0	5550	1087	38	1	611	1	FAM26E	6	116836827	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	5151759	116836827	54278240	98	22875										
OPRM1	4988	hgsc.bcm.edu	37	chr6	154411241	154411241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaaatgccaaaattatcaatGtctgcaactggatcctctct	6	10	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr6:154411241G>A	ENST00000330432.7	+	2	808	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	OPRM1_ENST00000522236.1_Missense_Mutation_p.V91I|OPRM1_ENST00000428397.2_Missense_Mutation_p.V191I|OPRM1_ENST00000434900.2_Missense_Mutation_p.V284I|OPRM1_ENST00000435918.2_Missense_Mutation_p.V191I|OPRM1_ENST00000520708.1_Missense_Mutation_p.V91I|OPRM1_ENST00000360422.4_Missense_Mutation_p.V191I|OPRM1_ENST00000337049.4_Missense_Mutation_p.V191I|OPRM1_ENST00000229768.5_Missense_Mutation_p.V191I|OPRM1_ENST00000518759.1_Missense_Mutation_p.V110I|OPRM1_ENST00000419506.2_Missense_Mutation_p.V191I|OPRM1_ENST00000524163.1_Missense_Mutation_p.V191I|OPRM1_ENST00000452687.2_Missense_Mutation_p.V191I|OPRM1_ENST00000522555.1_Missense_Mutation_p.V91I|OPRM1_ENST00000414028.2_Missense_Mutation_p.V191I	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	191					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AATTATCAATGTCTGCAACTG	0.468																																					p.V284I		Atlas-SNP	.											.	OPRM1	241	.	0			c.G850A						PASS	.						161	153	155					6																	154411241		2052	4235	6287	SO:0001583	missense	4988	exon4			ATCAATGTCTGCA	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.571G>A	6.37:g.154411241G>A	ENSP00000328264:p.Val191Ile	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	82	36	0.439024	NM_001145279	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	8.766	0.924735	0.18056	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.8	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.108809	0.64402	N	0.000008	T	0.09642	0.0237	N	0.14661	0.345	0.41124	D	0.985834	B;B;B;B;B;B;B;B;B;B;B;B;B	0.19073	0.007;0.001;0.001;0.019;0.033;0.005;0.004;0.001;0.004;0.001;0.002;0.018;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B	0.29353	0.013;0.027;0.014;0.034;0.101;0.074;0.027;0.045;0.044;0.024;0.019;0.071;0.014	T	0.10268	-1.0637	10	0.22109	T	0.4	.	10.791	0.46432	0.213:0.0:0.787:0.0	.	191;191;191;191;284;110;191;91;191;191;191;191;191	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	I	284;91;110;191;191;191;191;191;191;191;191;191;191;91;91	ENSP00000394624:V284I;ENSP00000430876:V91I;ENSP00000430260:V110I;ENSP00000328264:V191I;ENSP00000353598:V191I;ENSP00000411903:V191I;ENSP00000410497:V191I;ENSP00000229768:V191I;ENSP00000403549:V191I;ENSP00000430097:V191I;ENSP00000399359:V191I;ENSP00000413752:V191I;ENSP00000338381:V191I;ENSP00000429719:V91I;ENSP00000429373:V91I	ENSP00000229768:V191I	V	+	1	0	OPRM1	154452934	1.000000	0.71417	0.938000	0.37757	0.998000	0.95712	2.492000	0.45311	0.317000	0.23160	0.655000	0.94253	GTC	.	.	none		0.468	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154411241	G	A	154411241	3	1	32	1	0	0	0	0	1	0	0	0	10887	1377	48	2	911	2	OPRM1	6	154411241	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	37574414	154411241	16703826	99	22876										
KLHL7	55975	hgsc.bcm.edu	37	chr7	23165412	23165412	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagttgatcagagccttccaGagtgtggtatgcttttcact	10	8	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:23165412G>A	ENST00000339077.5	+	4	685				KLHL7_ENST00000322275.5_Missense_Mutation_p.E159K|KLHL7_ENST00000322231.7_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.E137K|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000479288.1_Intron	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTTCCAGAGTGTGGTAT	0.413																																					p.E159K		Atlas-SNP	.											.	KLHL7	102	.	0			c.G475A						PASS	.																																			SO:0001627	intron_variant	55975	exon5			CTTCCAGAGTGTG		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.442+621G>A	7.37:g.23165412G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	84	42	0.5	NM_001172428	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743932	0.15642	.	.	ENSG00000122550	ENST00000322275;ENST00000410047	T;T	0.73897	-0.73;-0.79	2.26	0.299	0.15771	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50030	-0.8875	8	0.59425	D	0.04	.	4.0126	0.09629	0.4137:0.0:0.5863:0.0	.	159;137	Q8IXQ5-3;Q8IXQ5-4	.;.	K	159;137	ENSP00000323270:E159K;ENSP00000386999:E137K	ENSP00000323270:E159K	E	+	1	0	KLHL7	23131937	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	-0.620000	0.05565	0.064000	0.16427	0.563000	0.77884	GAG	.	.	none		0.413	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		A	23165412	G	A	23165412	1	1	32	0	1	0	0	0	0	0	0	0	8394	943	33	2		2	KLHL7	7	23165412	Intron	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		23165412	135973251	100	22877										
ZNF107	51427	hgsc.bcm.edu	37	chr7	64168429	64168429	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gagagaacctctacaaatttGaagaacatggaaaagctttt	8	6	1	3	rs77575429	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:64168429G>A	ENST00000395391.1	+	4	3122	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	ZNF107_ENST00000423627.1_Missense_Mutation_p.E583K|ZNF107_ENST00000344930.3_Missense_Mutation_p.E583K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTACAAATTTGAAGAACATGG	0.343													g|||	4	0.000798722	0.0	0.0	5008	,	,		17991	0.0		0.004	False		,,,				2504	0.0				p.E583K		Atlas-SNP	.											.	ZNF107	107	.	0			c.G1747A						PASS	.	G	LYS/GLU,LYS/GLU	9,4389		0,9,2190	45	52	50		1747,1747	-2.1	0	7	dbSNP_131	50	61,8529		0,61,4234	yes	missense,missense	ZNF107	NM_001013746.1,NM_016220.3	56,56	0,70,6424	AA,AG,GG		0.7101,0.2046,0.539	possibly-damaging,possibly-damaging	583/784,583/784	64168429	70,12918	2199	4295	6494	SO:0001583	missense	51427	exon7			AAATTTGAAGAAC	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1747G>A	7.37:g.64168429G>A	ENSP00000378789:p.Glu583Lys	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	126	27	0.214286	NM_016220		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	0.124	-1.121605	0.01785	0.002046	0.007101	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.15256	2.44;2.44;2.44	1.27	-2.14	0.07123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.11000	0.08	0.09310	N	1	P	0.50819	0.939	P	0.57425	0.82	T	0.15809	-1.0424	8	.	.	.	.	2.6796	0.05090	0.4658:0.266:0.2682:0.0	.	583	Q9UII5	ZN107_HUMAN	K	583	ENSP00000343443:E583K;ENSP00000400037:E583K;ENSP00000378789:E583K	.	E	+	1	0	ZNF107	63805864	0.000000	0.05858	0.002000	0.10522	0.234000	0.25298	-5.878000	0.00093	-0.186000	0.10533	0.313000	0.20887	GAA	G|0.997;A|0.003	0.003	strong		0.343	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		A	64168429	G	A	64168429	3	1	32	1	0	0	0	0	1	0	0	0	17712	1291	45	2	1753	2	ZNF107	7	64168429	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	41003017	64168429	94970234	101	22878										
PCLO	27445	hgsc.bcm.edu	37	chr7	82584908	82584908	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tccctctgcttttcttgctcCtttaataattcttcttcctc	2	14	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:82584908C>G	ENST00000333891.9	-	5	5698	c.5361G>C	c.(5359-5361)aaG>aaC	p.K1787N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1787N	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						TTTCTTGCTCCTTTAATAATT	0.403																																					p.K1787N		Atlas-SNP	.											.	PCLO	1506	.	0			c.G5361C						PASS	.						90	83	85					7																	82584908		1837	4081	5918	SO:0001583	missense	27445	exon5			TTGCTCCTTTAAT	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.5361G>C	7.37:g.82584908C>G	ENSP00000334319:p.Lys1787Asn	Somatic	505	1	0.0019802		WXS	Illumina HiSeq	Phase_I	331	96	0.29003	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.765	0.325561	0.10900	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19938	2.11;2.11	5.56	2.63	0.31362	.	.	.	.	.	T	0.13200	0.0320	N	0.08118	0	0.80722	D	1	P;P	0.41848	0.763;0.763	P;P	0.44897	0.463;0.463	T	0.09378	-1.0677	9	0.87932	D	0	.	8.1683	0.31239	0.0:0.5911:0.0:0.4089	.	1787;1787	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1718;1787;1787	ENSP00000334319:K1787N;ENSP00000388393:K1787N	ENSP00000334319:K1787N	K	-	3	2	PCLO	82422844	0.989000	0.36119	0.956000	0.39512	0.996000	0.88848	0.330000	0.19715	0.238000	0.21222	0.650000	0.86243	AAG	.	.	none		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82584908	C	G	82584908	3	3	32	1	0	0	0	0	1	0	0	0	11583	680	24	4	10168	4	PCLO	7	82584908	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	18416479	82584908	76553755	102	22879										
BAIAP2L1	55971	hgsc.bcm.edu	37	chr7	97991678	97991678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aacagacttaccgtttacagCtttctcataatttttcccca	3	12	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:97991678C>A	ENST00000005260.8	-	2	333	c.118G>T	c.(118-120)Gct>Tct	p.A40S	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	40	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCGTTTACAGCTTTCTCATAA	0.284																																					p.A40S		Atlas-SNP	.											BAIAP2L1,right_upper_lobe,carcinoma,0,1	BAIAP2L1	61	1	0			c.G118T						PASS	.						75	82	80					7																	97991678		2202	4300	6502	SO:0001583	missense	55971	exon2			TTACAGCTTTCTC	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.118G>T	7.37:g.97991678C>A	ENSP00000005260:p.Ala40Ser	Somatic	411	0	0		WXS	Illumina HiSeq	Phase_I	351	59	0.168091	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556132	0.65425	.	.	ENSG00000006453	ENST00000005260	T	0.31247	1.5	5.45	5.45	0.79879	IRSp53/MIM homology domain (IMD) (3);	0.167136	0.53938	D	0.000051	T	0.42063	0.1186	L	0.43923	1.385	0.54753	D	0.999981	D	0.61080	0.989	P	0.57283	0.817	T	0.10064	-1.0646	10	0.42905	T	0.14	-18.9119	14.7855	0.69800	0.0:1.0:0.0:0.0	.	40	Q9UHR4	BI2L1_HUMAN	S	40	ENSP00000005260:A40S	ENSP00000005260:A40S	A	-	1	0	AC093799.1	97829614	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.770000	0.38532	2.575000	0.86900	0.591000	0.81541	GCT	.	.	none		0.284	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		A	97991678	C	A	97991678	3	1	32	1	0	0	0	0	1	0	0	0	1302	797	28	4	1469	4	BAIAP2L1	7	97991678	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	15406770	97991678	61146985	103	22880										
SMURF1	57154	hgsc.bcm.edu	37	chr7	98652487	98652487	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctgtctcgtgtctgtaaactGactaaaagagaaaagaacga	9	7	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:98652487G>C	ENST00000361125.1	-	6	724	c.405C>G	c.(403-405)gtC>gtG	p.V135V	SMURF1_ENST00000361368.2_Splice_Site_p.V135V|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	135					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCTGTAAACTGACTAAAAGAG	0.413																																					p.V135V		Atlas-SNP	.											.	SMURF1	58	.	0			c.C405G						PASS	.						96	99	98					7																	98652487		2203	4300	6503	SO:0001630	splice_region_variant	57154	exon6			TAAACTGACTAAA	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.404-1C>G	7.37:g.98652487G>C		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	60	16	0.266667	NM_020429	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	CCDS34690.1																																																																																			.	.	none		0.413	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	Silent	C	98652487	G	C	98652487	5	2	32	1	0	0	0	0	0	0	1	0	14819	1304	45	4	1924	4	SMURF1	7	98652487	Splice_Site	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	660809	98652487	60486176	104	22881										
MET	4233	hgsc.bcm.edu	37	chr7	116422095	116422095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttcaagtagccaaaggcatGaaatatcttgcaagcaaaaa	7	8	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:116422095G>A	ENST00000318493.6	+	18	3817	c.3630G>A	c.(3628-3630)atG>atA	p.M1210I	MET_ENST00000539704.1_Missense_Mutation_p.M62I|MET_ENST00000397752.3_Missense_Mutation_p.M1192I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCAAAGGCATGAAATATCTTG	0.373			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.M1210I		Atlas-SNP	.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	MET	412	.	0			c.G3630A						PASS	.						60	58	58					7																	116422095		1831	4083	5914	SO:0001583	missense	4233	exon18	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	AGGCATGAAATAT	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3630G>A	7.37:g.116422095G>A	ENSP00000317272:p.Met1210Ile	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	120	21	0.175	NM_001127500	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799113	0.90538	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.34072	1.38;1.38;1.38	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.992	T	0.64292	-0.6442	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1210;1192	P08581-2;P08581	.;MET_HUMAN	I	1192;1210;62	ENSP00000380860:M1192I;ENSP00000317272:M1210I;ENSP00000445020:M62I	ENSP00000317272:M1210I	M	+	3	0	MET	116209331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.941000	0.99782	0.655000	0.94253	ATG	.	.	none		0.373	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116422095	G	A	116422095	3	1	32	1	0	0	0	0	1	0	0	0	9485	1290	45	2	3696	2	MET	7	116422095	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	17769608	116422095	42716568	105	22882										
CTTNBP2	83992	hgsc.bcm.edu	37	chr7	117400606	117400606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agagattgcctggaaatgatTtgtcagagcttgactcactg	11	7	2	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:117400606T>G	ENST00000160373.3	-	10	3146	c.3055A>C	c.(3055-3057)Aat>Cat	p.N1019H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1019					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAAATGATTTGTCAGAGCT	0.418																																					p.N1019H		Atlas-SNP	.											.	CTTNBP2	200	.	0			c.A3055C						PASS	.						235	213	220					7																	117400606		2203	4300	6503	SO:0001583	missense	83992	exon10			AATGATTTGTCAG		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3055A>C	7.37:g.117400606T>G	ENSP00000160373:p.Asn1019His	Somatic	313	0	0		WXS	Illumina HiSeq	Phase_I	191	74	0.387435	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.2|20.2|20.2	3.957458|3.957458|3.957458	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.68479|.	.|-0.33|.	5.72|5.72|5.72	4.56|4.56|4.56	0.56223|0.56223|0.56223	.|.|.	.|0.312530|.	.|0.37906|.	.|N|.	.|0.001891|.	T|T|T	0.74831|0.74831|0.74831	0.3768|0.3768|0.3768	M|M|M	0.82630|0.82630|0.82630	2.6|2.6|2.6	0.37453|0.37453|0.37453	D|D|D	0.9149|0.9149|0.9149	.|D|.	.|0.53462|.	.|0.96|.	.|P|.	.|0.57204|.	.|0.815|.	T|T|T	0.79451|0.79451|0.79451	-0.1798|-0.1798|-0.1798	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-0.6073|-0.6073|-0.6073	11.8043|11.8043|11.8043	0.52145|0.52145|0.52145	0.0:0.0687:0.0:0.9313|0.0:0.0687:0.0:0.9313|0.0:0.0687:0.0:0.9313	.|.|.	.|1019|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	T|H|H	506|1019|32;14	.|ENSP00000160373:N1019H|.	.|ENSP00000160373:N1019H|.	K|N|Q	-|-|-	2|1|3	0|0|2	CTTNBP2|CTTNBP2|CTTNBP2	117187842|117187842|117187842	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	2.678000|2.678000|2.678000	0.46900|0.46900|0.46900	1.096000|1.096000|1.096000	0.41439|0.41439|0.41439	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	AAA|AAT|CAA	.	.	none		0.418	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		G	117400606	T	G	117400606	3	3	32	1	0	0	0	0	1	0	0	0	4045	1841	64	5	1992	5	CTTNBP2	7	117400606	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	978511	117400606	41738057	106	22883										
AASS	10157	hgsc.bcm.edu	37	chr7	121726174	121726174	+	Frame_Shift_Del	DEL	A	A	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccttccaaatttaatcctggAaaaaaatccatggacgtaac							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:121726174delA	ENST00000393376.1	-	18	2171	c.2076delT	c.(2074-2076)tttfs	p.F692fs	AASS_ENST00000417368.2_Frame_Shift_Del_p.F692fs|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	692	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.P693fs*3(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTAATCCTGGAAAAAAATCCA	0.443																																					p.P693fs		Pindel,Atlas-Indel	.											.	AASS	123	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2077delC						PASS	.						81	79	80					7																	121726174		2203	4300	6503	SO:0001589	frameshift_variant	10157	exon19			.	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2076delT	7.37:g.121726174delA	ENSP00000377040:p.Phe692fs	Somatic	126	.	.		WXS	Illumina HiSeq	Phase_I	66	16	0.242	NM_005763	O95462	Frame_Shift_Del	DEL	ENST00000393376.1	37	CCDS5783.1																																																																																			.	.	none		0.443	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		-	121726174	A	-	121726174	7	5	32	1	0	1	0	1	0	0	0	0	24	243	9	0	728	0	AASS	7	121726174	Frame_Shift_Del	DEL	A	TCGA-GS-A9TW-01A-11D-A382-10	4325568	121726174	37412489	107	22884										
EXOC4	60412	hgsc.bcm.edu	37	chr7	132959870	132959870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagaattgacgacagccattCgcacataccagagcatcaca	7	13	1	3	rs201300506		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:132959870C>T	ENST00000253861.4	+	2	249	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EXOC4_ENST00000393161.2_Missense_Mutation_p.R74C|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	74					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACAGCCATTCGCACATACCA	0.468																																					p.R74C		Atlas-SNP	.											EXOC4,NS,carcinoma,-1,2	EXOC4	118	2	0			c.C220T						PASS	.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	132	116	122		220,220	5.5	1	7		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EXOC4	NM_001037126.1,NM_021807.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	74/474,74/975	132959870	1,13005	2203	4300	6503	SO:0001583	missense	60412	exon2			GCCATTCGCACAT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.220C>T	7.37:g.132959870C>T	ENSP00000253861:p.Arg74Cys	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	72	16	0.222222	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599554	0.87055	0.0	1.16E-4	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.926	T	0.74396	-0.3679	9	0.52906	T	0.07	.	19.3733	0.94498	0.0:1.0:0.0:0.0	.	74;74	Q96A65;Q8TAR2	EXOC4_HUMAN;.	C	74	.	ENSP00000253861:R74C	R	+	1	0	EXOC4	132610410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.534000	0.53568	2.579000	0.87056	0.650000	0.86243	CGC	C|0.999;T|0.001	0.001	weak		0.468	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		T	132959870	C	T	132959870	3	4	32	1	0	0	0	0	1	0	0	0	5306	884	31	1	226	1	EXOC4	7	132959870	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	11233696	132959870	26178793	108	22885										
OR2A25	392138	hgsc.bcm.edu	37	chr7	143771336	143771336	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gggggaaatcagacttccatCacagagttcctcctactggg	11	11	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:143771336C>T	ENST00000408898.2	+	1	62	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGACTTCCATCACAGAGTTCC	0.468																																					p.I8I		Atlas-SNP	.											OR2A25,caecum,carcinoma,+2,1	OR2A25	66	1	0			c.C24T						PASS	.						75	83	80					7																	143771336		2201	4299	6500	SO:0001819	synonymous_variant	392138	exon1			TTCCATCACAGAG		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.24C>T	7.37:g.143771336C>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	146	26	0.178082	NM_001004488	B2RNC9	Silent	SNP	ENST00000408898.2	37	CCDS43669.1																																																																																			.	.	none		0.468	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			T	143771336	C	T	143771336	2	4	32	1	0	0	0	0	0	0	0	1	10978	816	29	2		2	OR2A25	7	143771336	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	10811466	143771336	15367327	109	22886										
ABCB8	11194	hgsc.bcm.edu	37	chr7	150733637	150733637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cccctctcctgcaggcatggTcttgggtaccctatttattg	9	13	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:150733637T>G	ENST00000297504.6	+	10	1235	c.1169T>G	c.(1168-1170)gTc>gGc	p.V390G	ABCB8_ENST00000477719.1_Missense_Mutation_p.V373G|ABCB8_ENST00000477092.1_Missense_Mutation_p.V373G|ABCB8_ENST00000542328.1_Missense_Mutation_p.V285G|ABCB8_ENST00000356058.4_Missense_Mutation_p.V410G|ABCB8_ENST00000498578.1_Missense_Mutation_p.V373G|ABCB8_ENST00000358849.4_Missense_Mutation_p.V373G			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	390	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GCAGGCATGGTCTTGGGTACC	0.617																																					p.V373G		Atlas-SNP	.											.	ABCB8	65	.	0			c.T1118G						PASS	.						108	98	101					7																	150733637		2203	4300	6503	SO:0001583	missense	11194	exon9			GCATGGTCTTGGG	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1169T>G	7.37:g.150733637T>G	ENSP00000297504:p.Val390Gly	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_007188	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020757	0.75275	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.17	5.17	0.71159	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.999;0.998;1.0;1.0	D;D;D;D;D;D	0.83275	0.958;0.991;0.991;0.984;0.996;0.996	D	0.95696	0.8745	10	0.56958	D	0.05	1.0E-4	12.955	0.58421	0.0:0.0:0.0:1.0	.	285;373;390;373;373;410	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;.;ABCB8_HUMAN;.;.;.	G	373;356;390;285;373;410;373;373	ENSP00000351717:V373G;ENSP00000297504:V390G;ENSP00000438776:V285G;ENSP00000418271:V373G;ENSP00000348353:V410G;ENSP00000419891:V373G;ENSP00000419558:V373G	ENSP00000297504:V390G	V	+	2	0	ABCB8	150364570	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.085000	0.76875	1.954000	0.56735	0.459000	0.35465	GTC	.	.	none		0.617	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		G	150733637	T	G	150733637	3	3	32	1	0	0	0	0	1	0	0	0	47	1667	58	5	1152	5	ABCB8	7	150733637	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	6962301	150733637	8405026	110	22887										
MLL3	58508	hgsc.bcm.edu	37	chr7	151902302	151902302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tctttgccgcaccataaatcCaccaatacctatccaaaaaa	2	14	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr7:151902302C>T	ENST00000262189.6	-	25	4068	c.3850G>A	c.(3850-3852)Gga>Aga	p.G1284R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G1284R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1284					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)									ACCATAAATCCACCAATACCT	0.383																																					p.G1284R		Atlas-SNP	.											.	MLL3	1564	.	1	Unknown(1)	large_intestine(1)	c.G3850A						PASS	.						72	69	70					7																	151902302		2203	4300	6503	SO:0001583	missense	58508	exon25			TAAATCCACCAAT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3850G>A	7.37:g.151902302C>T	ENSP00000262189:p.Gly1284Arg	Somatic	306	0	0		WXS	Illumina HiSeq	Phase_I	234	74	0.316239	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944042	0.73672	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86956	-2.19;-2.19	5.71	5.71	0.89125	.	0.000000	0.43260	D	0.000591	D	0.94291	0.8166	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94459	0.7674	10	0.87932	D	0	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	1284;345	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	R	1284	ENSP00000262189:G1284R;ENSP00000347325:G1284R	ENSP00000262189:G1284R	G	-	1	0	MLL3	151533235	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.993000	0.76245	2.699000	0.92147	0.650000	0.86243	GGA	.	.	none		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151902302	C	T	151902302	3	4	32	1	0	0	0	0	1	0	0	0	9622	603	21	2	11025	2	MLL3	7	151902302	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1168665	151902302	7236361	111	22888										
REEP4	80346	hgsc.bcm.edu	37	chr8	21996529	21996529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtcagagatggagcgcaggtCctgcatggagaagctccgca	15	10	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:21996529C>T	ENST00000306306.3	-	6	931	c.463G>A	c.(463-465)Gac>Aac	p.D155N	REEP4_ENST00000523293.1_Missense_Mutation_p.D155N|REEP4_ENST00000334530.5_Intron	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	155					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GAGCGCAGGTCCTGCATGGAG	0.677																																					p.D155N		Atlas-SNP	.											.	REEP4	13	.	0			c.G463A						PASS	.						21	21	21					8																	21996529		2202	4296	6498	SO:0001583	missense	80346	exon6			GCAGGTCCTGCAT	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.463G>A	8.37:g.21996529C>T	ENSP00000303482:p.Asp155Asn	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	39	20	0.512821	NM_025232	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	CCDS6024.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400018	0.96030	.	.	ENSG00000168476	ENST00000306306;ENST00000523293;ENST00000518664	D;D;D	0.90444	-2.25;-2.67;-2.64	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000019	D	0.95063	0.8401	M	0.80183	2.485	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.95497	0.8574	10	0.62326	D	0.03	-24.4594	15.1447	0.72641	0.0:1.0:0.0:0.0	.	155	Q9H6H4	REEP4_HUMAN	N	155	ENSP00000303482:D155N;ENSP00000428709:D155N;ENSP00000428160:D155N	ENSP00000303482:D155N	D	-	1	0	REEP4	22052474	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.547000	0.82146	2.156000	0.67533	0.655000	0.94253	GAC	.	.	none		0.677	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		T	21996529	C	T	21996529	3	4	32	1	0	0	0	0	1	0	0	0	13207	855	30	2	322	2	REEP4	8	21996529	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10		21996529	124367493	112	22889										
RHOBTB2	23221	hgsc.bcm.edu	37	chr8	22865187	22865187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgaggccttcatgaaccagGagatcaccaaggccttccac	9	13	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:22865187G>A	ENST00000251822.6	+	5	1966	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.E499K|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.E484K	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	477					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CATGAACCAGGAGATCACCAA	0.542																																					p.E499K		Atlas-SNP	.											.	RHOBTB2	67	.	0			c.G1495A						PASS	.						106	103	104					8																	22865187		2203	4300	6503	SO:0001583	missense	23221	exon7			AACCAGGAGATCA	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1429G>A	8.37:g.22865187G>A	ENSP00000251822:p.Glu477Lys	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453804	0.84209	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.10573	2.86;2.87;2.87	5.35	4.47	0.54385	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.82323	2.585	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.14448	-1.0472	10	0.72032	D	0.01	.	13.2086	0.59811	0.0797:0.0:0.9203:0.0	.	484;477;499	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	K	499;484;477	ENSP00000427926:E499K;ENSP00000429141:E484K;ENSP00000251822:E477K	ENSP00000251822:E477K	E	+	1	0	RHOBTB2	22921132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.476000	0.83614	0.655000	0.94253	GAG	.	.	none		0.542	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			A	22865187	G	A	22865187	3	1	32	1	0	0	0	0	1	0	0	0	13334	1175	41	2	1528	2	RHOBTB2	8	22865187	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	868658	22865187	123498835	113	22890										
TGS1	96764	hgsc.bcm.edu	37	chr8	56715141	56715141	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acaggctcttctcccgttttGatgatgggattaagttggac	11	8	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:56715141G>C	ENST00000260129.5	+	9	2452	c.1975G>C	c.(1975-1977)Gat>Cat	p.D659H		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	659	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTCCCGTTTTGATGATGGGAT	0.373																																					p.D659H	Esophageal Squamous(34;275 823 4842 34837 48447)	Atlas-SNP	.											.	TGS1	66	.	0			c.G1975C						PASS	.						100	94	96					8																	56715141		2203	4300	6503	SO:0001583	missense	96764	exon9			CGTTTTGATGATG	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1975G>C	8.37:g.56715141G>C	ENSP00000260129:p.Asp659His	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	69	11	0.15942	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947691	0.92593	.	.	ENSG00000137574	ENST00000260129	T	0.49139	0.79	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.84845	0.0810	10	0.87932	D	0	-34.8829	20.4192	0.99033	0.0:0.0:1.0:0.0	.	659;659	B2RBJ7;Q96RS0	.;TGS1_HUMAN	H	659	ENSP00000260129:D659H	ENSP00000260129:D659H	D	+	1	0	TGS1	56877695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.831000	0.97527	0.650000	0.86243	GAT	.	.	none		0.373	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		C	56715141	G	C	56715141	3	2	32	1	0	0	0	0	1	0	0	0	15834	1290	45	4	2009	4	TGS1	8	56715141	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	33849954	56715141	89648881	114	22891										
RPL7	6129	hgsc.bcm.edu	37	chr8	74204061	74204061	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgttaatcgaagccttgttGagcttcacaaaggttccatt	8	8	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:74204061G>C	ENST00000352983.2	-	4	660	c.375C>G	c.(373-375)ctC>ctG	p.L125L	RPL7_ENST00000396465.1_Silent_p.L85L|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396467.1_Silent_p.L85L|RPL7_ENST00000396466.1_Silent_p.L85L|RDH10_ENST00000240285.5_5'Flank			P18124	RL7_HUMAN	ribosomal protein L7	125					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			AAGCCTTGTTGAGCTTCACAA	0.413																																					p.L125L		Atlas-SNP	.											.	RPL7	20	.	0			c.C375G						PASS	.						91	90	90					8																	74204061		2203	4297	6500	SO:0001819	synonymous_variant	6129	exon4			CTTGTTGAGCTTC	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.375C>G	8.37:g.74204061G>C		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	97	21	0.216495	NM_000971	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	ENST00000352983.2	37	CCDS6212.1																																																																																			.	.	none		0.413	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		C	74204061	G	C	74204061	2	2	32	1	0	0	0	0	0	0	0	1	13599	1277	45	4		4	RPL7	8	74204061	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	17488920	74204061	72159961	115	22892										
SLC26A7	115111	hgsc.bcm.edu	37	chr8	92301369	92301369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tagtcttcttcacaggattgGcctttgctgttctctcatct	7	11	6	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:92301369G>A	ENST00000276609.3	+	3	438	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	SLC26A7_ENST00000523719.1_Missense_Mutation_p.A67T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.A67T	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CACAGGATTGGCCTTTGCTGT	0.393																																					p.A67T		Atlas-SNP	.											SLC26A7_ENST00000309536,rectum,carcinoma,-1,2	SLC26A7	207	2	0			c.G199A						PASS	.						235	212	220					8																	92301369		2203	4300	6503	SO:0001583	missense	115111	exon3			GGATTGGCCTTTG	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.199G>A	8.37:g.92301369G>A	ENSP00000276609:p.Ala67Thr	Somatic	425	1	0.00235294		WXS	Illumina HiSeq	Phase_I	466	124	0.266094	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372351	0.82573	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	6.17	3.25	0.37280	.	0.338048	0.28198	N	0.016238	D	0.95332	0.8485	M	0.93106	3.38	0.27340	N	0.956538	P;P	0.40000	0.51;0.698	B;B	0.38803	0.154;0.282	D	0.89804	0.3977	10	0.72032	D	0.01	.	14.3597	0.66764	0.0:0.0:0.5817:0.4183	.	67;67	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	67	ENSP00000428881:A67T;ENSP00000428849:A67T;ENSP00000276609:A67T;ENSP00000309504:A67T	ENSP00000276609:A67T	A	+	1	0	SLC26A7	92370545	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.242000	0.43106	0.380000	0.24823	0.655000	0.94253	GCC	.	.	none		0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			A	92301369	G	A	92301369	3	1	32	1	0	0	0	0	1	0	0	0	14522	1203	42	2	205	2	SLC26A7	8	92301369	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	18097308	92301369	54062653	116	22893										
PDP1	54704	hgsc.bcm.edu	37	chr8	94935821	94935821	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtcttcctgaagagcttgctCgaatgtacagagatgacatt	10	8	1	4	rs202225648		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:94935821C>T	ENST00000297598.4	+	2	1803	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	PDP1_ENST00000396200.3_Nonsense_Mutation_p.R537*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.R512*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.R512*	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	512					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						AGAGCTTGCTCGAATGTACAG	0.453																																					p.R537X		Atlas-SNP	.											PDP1,rectum,carcinoma,-1,1	PDP1	97	1	0			c.C1609T						PASS	.						106	96	99					8																	94935821		2203	4300	6503	SO:0001587	stop_gained	54704	exon3			CTTGCTCGAATGT	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1534C>T	8.37:g.94935821C>T	ENSP00000297598:p.Arg512*	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	127	14	0.110236	NM_001161780	B3KX71|J3KPU0|Q5U5K1	Nonsense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	38	6.810033	0.97853	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	.	.	.	6.17	5.3	0.74995	.	0.058646	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9484	17.1598	0.86801	0.1273:0.8727:0.0:0.0	.	.	.	.	X	512;512;537;512	.	ENSP00000297598:R512X	R	+	1	2	PDP1	95004997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.804000	0.55568	1.623000	0.50342	0.655000	0.94253	CGA	C|0.999;T|0.001	0.001	weak		0.453	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		T	94935821	C	T	94935821	4	4	32	1	0	0	0	0	0	1	0	0	11685	876	31	1	1717	1	PDP1	8	94935821	Nonsense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	2634452	94935821	51428201	117	22894										
ESRP1	54845	hgsc.bcm.edu	37	chr8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	taacaccgtagtcagggcacGaggtttaccatggcagtctt	11	10	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:95676969G>A	ENST00000433389.2	+	7	879	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	230	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383																																					p.R230Q		Atlas-SNP	.											ESRP1_ENST00000433389,NS,carcinoma,+1,2	ESRP1	148	2	0			c.G689A						PASS	.						137	127	130					8																	95676969		1924	4146	6070	SO:0001583	missense	54845	exon7			GGGCACGAGGTTT	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.689G>A	8.37:g.95676969G>A	ENSP00000405738:p.Arg230Gln	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	145	59	0.406897	NM_001122827	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754248	0.96890	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	T;T;T;T;T;T	0.09723	2.95;3.31;3.31;2.95;2.95;3.31	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.28138	-1.0053	10	0.87932	D	0	-9.7887	19.798	0.96494	0.0:0.0:1.0:0.0	.	230;230;230;230;230;230	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	Q	230;230;230;230;13;89	ENSP00000407349:R230Q;ENSP00000405738:R230Q;ENSP00000351168:R230Q;ENSP00000402766:R230Q;ENSP00000428490:R13Q;ENSP00000429125:R89Q	ENSP00000351168:R230Q	R	+	2	0	ESRP1	95746145	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.869000	0.99810	2.677000	0.91161	0.563000	0.77884	CGA	.	.	none		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		A	95676969	G	A	95676969	3	1	32	1	0	0	0	0	1	0	0	0	5258	1058	37	1	715	1	ESRP1	8	95676969	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	741148	95676969	50687053	118	22895										
STK3	6788	hgsc.bcm.edu	37	chr8	99591963	99591963	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agctttgatctccatagcttCtgtgatcaggtctcttaata	7	9	4	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:99591963C>T	ENST00000419617.2	-	8	1017	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	STK3_ENST00000523601.1_Missense_Mutation_p.E321K	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	293					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCATAGCTTCTGTGATCAGG	0.318																																					p.E321K		Atlas-SNP	.											.	STK3	47	.	0			c.G961A						PASS	.						155	148	150					8																	99591963		1818	4093	5911	SO:0001583	missense	6788	exon10			TAGCTTCTGTGAT	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.877G>A	8.37:g.99591963C>T	ENSP00000390500:p.Glu293Lys	Somatic	344	0	0		WXS	Illumina HiSeq	Phase_I	398	33	0.0829146	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413500	0.83449	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.72505	-0.66;-0.65;0.08	5.69	5.69	0.88448	Protein kinase-like domain (1);	0.054980	0.64402	D	0.000001	T	0.73393	0.3581	M	0.74467	2.265	0.80722	D	1	B;B;B	0.29862	0.155;0.035;0.259	B;B;B	0.28638	0.023;0.023;0.092	T	0.72814	-0.4179	10	0.54805	T	0.06	.	19.8097	0.96542	0.0:1.0:0.0:0.0	.	182;293;321	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	K	293;321;182	ENSP00000390500:E293K;ENSP00000429744:E321K;ENSP00000428014:E182K	ENSP00000390500:E293K	E	-	1	0	STK3	99661139	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.346000	0.79347	2.685000	0.91497	0.484000	0.47621	GAA	.	.	none		0.318	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		T	99591963	C	T	99591963	3	4	32	1	0	0	0	0	1	0	0	0	15294	922	32	2	614	2	STK3	8	99591963	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3914994	99591963	46772059	119	22896										
TM7SF4	81501	hgsc.bcm.edu	37	chr8	105367391	105367391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctgggagaagtcaaaagacGgctgagtctctatcttacaa	11	8	3	3	rs139698540		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:105367391G>A	ENST00000297581.2	+	3	1365	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	439					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GTCAAAAGACGGCTGAGTCTC	0.478																																					p.R439Q		Atlas-SNP	.											.	.	.	.	0			c.G1316A						PASS	.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	47	49	49		1316	3.8	0	8	dbSNP_134	49	0,8600		0,0,4300	no	missense	TM7SF4	NM_030788.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	439/471	105367391	1,13005	2203	4300	6503	SO:0001583	missense	81501	exon3			AAAGACGGCTGAG	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1316G>A	8.37:g.105367391G>A	ENSP00000297581:p.Arg439Gln	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	109	10	0.0917431	NM_030788	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	6.779	0.512749	0.12944	2.27E-4	0.0	ENSG00000164935	ENST00000297581	T	0.33654	1.4	5.04	3.81	0.43845	.	0.727973	0.14085	N	0.342420	T	0.17450	0.0419	N	0.08118	0	0.09310	N	0.999997	B	0.29671	0.254	B	0.17098	0.017	T	0.12192	-1.0557	10	0.39692	T	0.17	-1.5907	8.648	0.34018	0.9091:0.0:0.0909:0.0	.	439	Q9H295	TM7S4_HUMAN	Q	439	ENSP00000297581:R439Q	ENSP00000297581:R439Q	R	+	2	0	TM7SF4	105436567	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	1.796000	0.38794	0.865000	0.35603	-0.290000	0.09829	CGG	G|1.000;A|0.000	0.000	weak		0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		A	105367391	G	A	105367391	3	1	32	1	0	0	0	0	1	0	0	0	15973	1116	39	1	1322	1	TM7SF4	8	105367391	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	5775428	105367391	40996631	120	22897										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121219248	121219248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgaagtcactgccagaagctTtatggttaactggactcatg	10	8	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:121219248T>G	ENST00000297848.3	+	10	1376	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	COL14A1_ENST00000537875.1_Missense_Mutation_p.F369C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.F369C|COL14A1_ENST00000247781.3_Missense_Mutation_p.F274C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCAGAAGCTTTATGGTTAAC	0.433																																					p.F369C		Atlas-SNP	.											.	COL14A1	292	.	0			c.T1106G						PASS	.						72	67	69					8																	121219248		2203	4300	6503	SO:0001583	missense	7373	exon10			GAAGCTTTATGGT		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1106T>G	8.37:g.121219248T>G	ENSP00000297848:p.Phe369Cys	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	208	68	0.326923	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947976	0.73787	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.89904	3.07	0.47819	D	0.999524	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83146	-0.0106	10	0.87932	D	0	.	15.8462	0.78895	0.0:0.0:0.0:1.0	.	369;369	Q05707-2;Q05707	.;COEA1_HUMAN	C	369;369;369;274;182	ENSP00000443974:F369C;ENSP00000311809:F369C;ENSP00000297848:F369C;ENSP00000247781:F274C;ENSP00000409461:F182C	ENSP00000247781:F274C	F	+	2	0	COL14A1	121288429	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.881000	0.69706	2.143000	0.66587	0.482000	0.46254	TTT	.	.	none		0.433	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		G	121219248	T	G	121219248	3	3	32	1	0	0	0	0	1	0	0	0	3671	1841	64	5	1140	5	COL14A1	8	121219248	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	15851857	121219248	25144774	121	22898										
COL14A1	7373	hgsc.bcm.edu	37	chr8	121219273	121219273	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gttaactggactcatgccccAggaaatgtggaaaaatacag	10	8	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr8:121219273A>T	ENST00000297848.3	+	10	1401	c.1131A>T	c.(1129-1131)ccA>ccT	p.P377P	COL14A1_ENST00000537875.1_Silent_p.P377P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.P377P|COL14A1_ENST00000247781.3_Silent_p.P282P	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCATGCCCCAGGAAATGTGG	0.433																																					p.P377P		Atlas-SNP	.											.	COL14A1	292	.	0			c.A1131T						PASS	.						66	62	63					8																	121219273		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon10			TGCCCCAGGAAAT		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1131A>T	8.37:g.121219273A>T		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	183	65	0.355191	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271484	0.23221	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.82	4.65	0.58169	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55173	-0.8182	4	.	.	.	.	7.6498	0.28342	0.788:0.1422:0.0698:0.0	.	.	.	.	W	134	.	.	R	+	1	2	COL14A1	121288454	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	0.568000	0.23623	1.013000	0.39391	0.482000	0.46254	AGG	.	.	none		0.433	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121219273	A	T	121219273	2	4	32	1	0	0	0	0	0	0	0	1	3671	175	7	5		5	COL14A1	8	121219273	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	25	121219273	25144749	122	22899										
FREM1	158326	hgsc.bcm.edu	37	chr9	14775791	14775791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgtttttcatacttgcctgaAtggtgaataaaacaggttct	8	6	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:14775791A>C	ENST00000380880.3	-	25	5636	c.4853T>G	c.(4852-4854)aTt>aGt	p.I1618S	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.I154S|FREM1_ENST00000380881.4_Missense_Mutation_p.I1619S|FREM1_ENST00000422223.2_Missense_Mutation_p.I1618S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1618					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACTTGCCTGAATGGTGAATAA	0.393																																					p.I1618S		Atlas-SNP	.											.	FREM1	261	.	0			c.T4853G						PASS	.						59	55	56					9																	14775791		1885	4123	6008	SO:0001583	missense	158326	exon26			GCCTGAATGGTGA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4853T>G	9.37:g.14775791A>C	ENSP00000370262:p.Ile1618Ser	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	261	54	0.206897	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.765498	0.69878	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.93	5.93	0.95920	.	0.262356	0.38272	N	0.001744	T	0.72614	0.3482	M	0.78801	2.425	0.54753	D	0.999982	D;D	0.67145	0.996;0.995	D;P	0.65874	0.939;0.878	T	0.76435	-0.2960	10	0.87932	D	0	-20.0105	16.3943	0.83563	1.0:0.0:0.0:0.0	.	1618;154	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	S	1619;1618;154;1618	ENSP00000370263:I1619S;ENSP00000412940:I1618S;ENSP00000370278:I154S;ENSP00000370262:I1618S	ENSP00000370262:I1618S	I	-	2	0	FREM1	14765791	1.000000	0.71417	0.979000	0.43373	0.336000	0.28762	8.677000	0.91203	2.281000	0.76405	0.533000	0.62120	ATT	.	.	none		0.393	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14775791	A	C	14775791	3	2	32	1	0	0	0	0	1	0	0	0	6044	101	4	5	1738	5	FREM1	9	14775791	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10		14775791	126437640	123	22900										
IFNA14	3448	hgsc.bcm.edu	37	chr9	21239704	21239704	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atcatctcatggaggacagaGatggcttgagctttctggaa	12	7	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:21239704G>A	ENST00000380222.2	-	1	274	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	77					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGGACAGAGATGGCTTGAG	0.463																																					p.I77I		Atlas-SNP	.											.	IFNA14	29	.	0			c.C231T						PASS	.						115	113	114					9																	21239704		2203	4300	6503	SO:0001819	synonymous_variant	3448	exon1			GACAGAGATGGCT		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.231C>T	9.37:g.21239704G>A		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	178	41	0.230337	NM_002172	Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	CCDS6501.1																																																																																			.	.	none		0.463	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		A	21239704	G	A	21239704	2	1	32	1	0	0	0	0	0	0	0	1	7534	932	33	2		2	IFNA14	9	21239704	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	6463913	21239704	119973727	124	22901										
TLN1	7094	hgsc.bcm.edu	37	chr9	35704399	35704399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggcgaacatgatggtggtgtCgaggtcagcaatgataccag	15	7	1	2	rs149639715	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:35704399C>T	ENST00000314888.9	-	45	6330	c.5977G>A	c.(5977-5979)Gac>Aac	p.D1993N	TLN1_ENST00000540444.1_Missense_Mutation_p.D1887N|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1993					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGTGGTGTCGAGGTCAGCA	0.602													C|||	6	0.00119808	0.0045	0.0	5008	,	,		21474	0.0		0.0	False		,,,				2504	0.0				p.D1993N		Atlas-SNP	.											.	TLN1	185	.	0			c.G5977A						PASS	.	C	ASN/ASP	32,4374	36.8+/-68.6	0,32,2171	154	134	141		5977	5	0.9	9	dbSNP_134	141	0,8600		0,0,4300	yes	missense	TLN1	NM_006289.3	23	0,32,6471	TT,TC,CC		0.0,0.7263,0.246	probably-damaging	1993/2542	35704399	32,12974	2203	4300	6503	SO:0001583	missense	7094	exon45			TGGTGTCGAGGTC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5977G>A	9.37:g.35704399C>T	ENSP00000316029:p.Asp1993Asn	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	148	15	0.101351	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	32	5.139301	0.94560	0.007263	0.0	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.81163	-1.46;-1.34	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90568	0.4520	10	0.87932	D	0	-19.3792	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1993	Q9Y490	TLN1_HUMAN	N	1993;1887	ENSP00000316029:D1993N;ENSP00000442981:D1887N	ENSP00000316029:D1993N	D	-	1	0	TLN1	35694399	1.000000	0.71417	0.932000	0.37286	0.965000	0.64279	7.795000	0.85887	2.319000	0.78375	0.561000	0.74099	GAC	C|0.998;T|0.002	0.002	strong		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35704399	C	T	35704399	3	4	32	1	0	0	0	0	1	0	0	0	15944	884	31	1	1700	1	TLN1	9	35704399	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	14464695	35704399	105509032	125	22902										
INVS	27130	hgsc.bcm.edu	37	chr9	103054777	103054777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggcttcgtgaagcagccctcCtgtatcagggtggctgggcc	15	12	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:103054777C>T	ENST00000262457.2	+	14	2423	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Silent_p.S650S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	746					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGCAGCCCTCCTGTATCAGGG	0.612																																					p.S746S		Atlas-SNP	.											.	INVS	81	.	0			c.C2238T						PASS	.						56	50	52					9																	103054777		2203	4300	6503	SO:0001819	synonymous_variant	27130	exon14			GCCCTCCTGTATC	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2238C>T	9.37:g.103054777C>T		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	174	47	0.270115	NM_014425	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																			.	.	none		0.612	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103054777	C	T	103054777	2	4	32	1	0	0	0	0	0	0	0	1	7787	668	24	2		2	INVS	9	103054777	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	67350378	103054777	38158654	126	22903										
SMC2	10592	hgsc.bcm.edu	37	chr9	106875690	106875690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctacaggaaggatcaagaaGctctagaagctgtaaaaaga	11	6	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:106875690G>T	ENST00000286398.7	+	11	1636	c.1348G>T	c.(1348-1350)Gct>Tct	p.A450S	SMC2_ENST00000374787.3_Missense_Mutation_p.A450S|SMC2_ENST00000303219.8_Missense_Mutation_p.A450S|SMC2_ENST00000374793.3_Missense_Mutation_p.A450S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	450					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGATCAAGAAGCTCTAGAAGC	0.353																																					p.A450S		Atlas-SNP	.											.	SMC2	127	.	0			c.G1348T						PASS	.						68	70	69					9																	106875690		2203	4299	6502	SO:0001583	missense	10592	exon11			CAAGAAGCTCTAG	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1348G>T	9.37:g.106875690G>T	ENSP00000286398:p.Ala450Ser	Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	279	104	0.37276	NM_006444	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923235	0.18056	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.79653	-1.18;-1.18;-1.29;-1.18	4.86	3.96	0.45880	RecF/RecN/SMC (1);	0.210974	0.49916	D	0.000137	T	0.71213	0.3313	L	0.52011	1.625	0.32986	D	0.524259	B;B;B	0.22983	0.045;0.037;0.078	B;B;B	0.25759	0.055;0.021;0.063	T	0.66333	-0.5950	10	0.09590	T	0.72	-11.9229	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	450;450;450	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	S	450	ENSP00000286398:A450S;ENSP00000363925:A450S;ENSP00000306152:A450S;ENSP00000363919:A450S	ENSP00000286398:A450S	A	+	1	0	SMC2	105915511	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.795000	0.47861	1.265000	0.44215	0.650000	0.86243	GCT	.	.	none		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			T	106875690	G	T	106875690	3	4	32	1	0	0	0	0	1	0	0	0	14783	971	34	4	1386	4	SMC2	9	106875690	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3820913	106875690	34337741	127	22904										
C9orf5	23731	hgsc.bcm.edu	37	chr9	111849490	111849490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acaagaattttccaagcccgAcaatgggccaaggcgcgaga	11	11	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:111849490A>C	ENST00000374586.3	-	6	1314	c.1283T>G	c.(1282-1284)gTc>gGc	p.V428G		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	428						integral component of membrane (GO:0016021)											TCCAAGCCCGACAATGGGCCA	0.443																																					p.V428G		Atlas-SNP	.											.	.	.	.	0			c.T1283G						PASS	.						93	92	92					9																	111849490		1829	4088	5917	SO:0001583	missense	23731	exon6			AGCCCGACAATGG	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1283T>G	9.37:g.111849490A>C	ENSP00000363714:p.Val428Gly	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	129	45	0.348837	NM_032012	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.382|9.382	1.073379|1.073379	0.20147|0.20147	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000413712|ENST00000374587;ENST00000374586;ENST00000223608	.|T	.|0.21734	.|1.99	5.83|5.83	4.67|4.67	0.58626|0.58626	.|.	.|0.366676	.|0.33075	.|N	.|0.005301	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.20459	.|0.045;0.039	.|B;B	.|0.18561	.|0.022;0.01	T|T	0.19257|0.19257	-1.0311|-1.0311	5|10	.|0.45353	.|T	.|0.12	-2.8289|-2.8289	5.8357|5.8357	0.18605|0.18605	0.6029:0.2488:0.1483:0.0|0.6029:0.2488:0.1483:0.0	.|.	.|428;428	.|Q9H330-2;Q9H330	.|.;CI005_HUMAN	W|G	28|428	.|ENSP00000363714:V428G	.|ENSP00000223608:V428G	C|V	-|-	3|2	2|0	C9orf5|C9orf5	110889311|110889311	0.233000|0.233000	0.23772|0.23772	0.003000|0.003000	0.11579|0.11579	0.793000|0.793000	0.44817|0.44817	2.435000|2.435000	0.44811|0.44811	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TGT|GTC	.	.	none		0.443	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		C	111849490	A	C	111849490	3	2	32	1	0	0	0	0	1	0	0	0	2486	275	10	5	1408	5	C9orf5	9	111849490	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	4973800	111849490	29363941	128	22905										
MUSK	4593	hgsc.bcm.edu	37	chr9	113538189	113538189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgtccgtgccagaatgcagcAagcttcccagcatgcattgg	11	12	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:113538189A>C	ENST00000374448.4	+	10	1440	c.1306A>C	c.(1306-1308)Aag>Cag	p.K436Q	MUSK_ENST00000189978.5_Missense_Mutation_p.K436Q|MUSK_ENST00000416899.2_Missense_Mutation_p.K436Q|MUSK_ENST00000374438.1_Missense_Mutation_p.Q27P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	436	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGAATGCAGCAAGCTTCCCAG	0.512																																					p.K436Q		Atlas-SNP	.											.	MUSK	112	.	0			c.A1306C						PASS	.						134	131	132					9																	113538189		1935	4146	6081	SO:0001583	missense	4593	exon9			TGCAGCAAGCTTC	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1306A>C	9.37:g.113538189A>C	ENSP00000363571:p.Lys436Gln	Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	326	92	0.282209	NM_005592	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.18|14.18	2.458644|2.458644	0.43634|0.43634	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.76186|0.81579	-1.0|-1.51	5.74|5.74	5.74|5.74	0.90152|0.90152	Frizzled domain (2);|.	0.216683|.	0.49305|.	D|.	0.000156|.	D|D	0.84338|0.84338	0.5450|0.5450	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B|.	0.29612|.	0.251|.	B|.	0.34931|.	0.192|.	T|T	0.83225|0.83225	-0.0066|-0.0066	10|7	0.27082|0.36615	T|T	0.32|0.2	.|.	15.2145|15.2145	0.73254|0.73254	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	436|.	O15146|.	MUSK_HUMAN|.	Q|P	442;436;436;358;358;442|27	ENSP00000363571:K436Q|ENSP00000363561:Q27P	ENSP00000189978:K442Q|ENSP00000363561:Q27P	K|Q	+|+	1|2	0|0	MUSK|MUSK	112578010|112578010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.960000|3.960000	0.56752|0.56752	2.189000|2.189000	0.69895|0.69895	0.459000|0.459000	0.35465|0.35465	AAG|CAA	.	.	none		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	113538189	A	C	113538189	3	2	32	1	0	0	0	0	1	0	0	0	9989	131	5	5	1376	5	MUSK	9	113538189	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	1688699	113538189	27675242	129	22906										
TTF1	7270	hgsc.bcm.edu	37	chr9	135261984	135261984	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcccagtctatttcattagtAtcttccacatttatttcata	2	10	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr9:135261984A>T	ENST00000334270.2	-	9	2376	c.2337T>A	c.(2335-2337)gaT>gaA	p.D779E		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	779					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCATTAGTATCTTCCACAT	0.299																																					p.D779E		Atlas-SNP	.											.	TTF1	82	.	0			c.T2337A						PASS	.						63	68	66					9																	135261984		2202	4300	6502	SO:0001583	missense	7270	exon9			ATTAGTATCTTCC	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2337T>A	9.37:g.135261984A>T	ENSP00000333920:p.Asp779Glu	Somatic	375	0	0		WXS	Illumina HiSeq	Phase_I	408	86	0.210784	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155583	0.38021	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11063	2.81	5.81	-3.64	0.04515	.	0.207027	0.38164	N	0.001784	T	0.05090	0.0136	L	0.46741	1.465	0.22629	N	0.998911	P	0.43750	0.816	B	0.32762	0.152	T	0.34403	-0.9830	10	0.33940	T	0.23	.	2.1505	0.03798	0.4398:0.1188:0.313:0.1284	.	779	Q15361	TTF1_HUMAN	E	779	ENSP00000333920:D779E	ENSP00000245588:D779E	D	-	3	2	TTF1	134251805	0.800000	0.28916	0.174000	0.22961	0.833000	0.47200	0.086000	0.14935	-0.353000	0.08224	0.533000	0.62120	GAT	.	.	none		0.299	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		T	135261984	A	T	135261984	3	4	32	1	0	0	0	0	1	0	0	0	16715	446	16	5	392	5	TTF1	9	135261984	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	21723795	135261984	5951447	130	22907										
OPTN	10133	hgsc.bcm.edu	37	chr10	13167997	13167997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aacaagcttcttcaagaacaTaataatgcattgaaaacaat	4	7	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:13167997T>G	ENST00000378748.3	+	12	1562	c.1200T>G	c.(1198-1200)caT>caG	p.H400Q	OPTN_ENST00000378764.2_Missense_Mutation_p.H394Q|OPTN_ENST00000378757.2_Missense_Mutation_p.H400Q|OPTN_ENST00000378747.3_Missense_Mutation_p.H400Q|OPTN_ENST00000378752.3_Missense_Mutation_p.H394Q|OPTN_ENST00000263036.5_Missense_Mutation_p.H400Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	400					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCAAGAACATAATAATGCAT	0.313																																					p.H400Q		Atlas-SNP	.											OPTN,colon,carcinoma,+1,1	OPTN	57	1	0			c.T1200G						PASS	.						79	78	78					10																	13167997		2203	4299	6502	SO:0001583	missense	10133	exon11			AGAACATAATAAT	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1200T>G	10.37:g.13167997T>G	ENSP00000368022:p.His400Gln	Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	220	33	0.15	NM_001008212	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	T	7.760	0.705124	0.15172	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87103	-2.2;-2.21;-2.2;-2.21;-2.2;-2.2	5.57	-0.125	0.13519	.	0.329091	0.37809	N	0.001921	T	0.81192	0.4771	L	0.47716	1.5	0.09310	N	1	P;P	0.44195	0.828;0.736	B;B	0.43783	0.431;0.352	T	0.72727	-0.4206	10	0.51188	T	0.08	-3.8413	6.6495	0.22955	0.0:0.4744:0.1352:0.3903	.	394;400	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	Q	400;394;400;394;400;400	ENSP00000263036:H400Q;ENSP00000368040:H394Q;ENSP00000368032:H400Q;ENSP00000368027:H394Q;ENSP00000368022:H400Q;ENSP00000368021:H400Q	ENSP00000263036:H400Q	H	+	3	2	OPTN	13208003	0.787000	0.28750	0.052000	0.19188	0.032000	0.12392	0.195000	0.17155	0.003000	0.14656	-0.280000	0.10049	CAT	.	.	none		0.313	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		G	13167997	T	G	13167997	3	3	32	1	0	0	0	0	1	0	0	0	10889	1403	49	5	1234	5	OPTN	10	13167997	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10		13167997	122366750	131	22908										
HSPA14	51182	hgsc.bcm.edu	37	chr10	14893270	14893270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgcgattaattcacgaaccgTctgcagctcttcttgcttat	7	11	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:14893270T>C	ENST00000378372.3	+	7	759	c.520T>C	c.(520-522)Tct>Cct	p.S174P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	174					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TCACGAACCGTCTGCAGCTCT	0.358																																					p.S174P		Atlas-SNP	.											.	HSPA14	42	.	0			c.T520C						PASS	.						137	135	136					10																	14893270		2203	4300	6503	SO:0001583	missense	51182	exon7			GAACCGTCTGCAG	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.520T>C	10.37:g.14893270T>C	ENSP00000367623:p.Ser174Pro	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	97	14	0.14433	NM_016299	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411879	0.83340	.	.	ENSG00000187522	ENST00000378372	T	0.01034	5.42	5.62	5.62	0.85841	.	0.052571	0.85682	D	0.000000	T	0.03434	0.0099	L	0.58101	1.795	0.80722	D	1	D	0.60575	0.988	P	0.56343	0.796	T	0.49916	-0.8888	10	0.87932	D	0	-17.0919	15.8307	0.78749	0.0:0.0:0.0:1.0	.	174	Q0VDF9	HSP7E_HUMAN	P	174	ENSP00000367623:S174P	ENSP00000367623:S174P	S	+	1	0	HSPA14	14933276	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	4.081000	0.57627	2.118000	0.64928	0.528000	0.53228	TCT	.	.	none		0.358	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		C	14893270	T	C	14893270	3	2	32	1	0	0	0	0	1	0	0	0	7407	1667	58	2	546	2	HSPA14	10	14893270	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	1725273	14893270	120641477	132	22909										
NEBL	10529	hgsc.bcm.edu	37	chr10	21309114	21309114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atctgccaccgtggtgaaggActgcttcgggtagtgtctgt	14	9	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:21309114A>G	ENST00000417816.2	-	3	534	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P	NEBL_ENST00000377159.4_Missense_Mutation_p.S27P	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	106					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGTGAAGGACTGCTTCGGG	0.413																																					p.S61P		Atlas-SNP	.											.	NEBL	199	.	0			c.T181C						PASS	.						102	96	98					10																	21309114		2203	4300	6503	SO:0001583	missense	10529	exon3			TGAAGGACTGCTT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.181T>C	10.37:g.21309114A>G	ENSP00000393896:p.Ser61Pro	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	171	48	0.280702	NM_001173484	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	a	14.03	2.414610	0.42817	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.36157	1.27;1.73	5.24	4.11	0.48088	.	.	.	.	.	T	0.35828	0.0945	M	0.76838	2.35	0.29217	N	0.874206	P	0.36990	0.577	B	0.26310	0.068	T	0.37979	-0.9682	9	0.59425	D	0.04	.	10.3484	0.43920	0.9204:0.0:0.0796:0.0	.	61	Q70I54	.	P	61;27	ENSP00000393896:S61P;ENSP00000366364:S27P	ENSP00000366364:S27P	S	-	1	0	NEBL	21349120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.287000	0.59001	0.932000	0.37266	0.529000	0.55759	TCC	.	.	none		0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		G	21309114	A	G	21309114	3	3	32	1	0	0	0	0	1	0	0	0	10303	275	10	2	3340	2	NEBL	10	21309114	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	6415844	21309114	114225633	133	22910										
JMJD1C	221037	hgsc.bcm.edu	37	chr10	64967691	64967691	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agagttggaggcttctgtgaTtcttgaactttaccaccagc	10	9	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:64967691T>A	ENST00000399262.2	-	10	3956	c.3738A>T	c.(3736-3738)gaA>gaT	p.E1246D	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1027D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1064D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E1027D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1246					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTCTGTGATTCTTGAACTT	0.443																																					p.E1246D		Atlas-SNP	.											.	JMJD1C	347	.	0			c.A3738T						PASS	.						90	86	87					10																	64967691		1851	4104	5955	SO:0001583	missense	221037	exon10			CTGTGATTCTTGA	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3738A>T	10.37:g.64967691T>A	ENSP00000382204:p.Glu1246Asp	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	193	48	0.248705	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912957	0.33815	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.60672	0.52;0.17;1.99;0.53	5.58	1.88	0.25563	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.62723	1.935	0.43761	D	0.996277	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.83275	0.996;0.942;0.92	T	0.65853	-0.6067	10	0.49607	T	0.09	-20.8338	11.4093	0.49917	0.0:0.3183:0.0:0.6817	.	787;1246;1064	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1246;1027;1027;1064	ENSP00000382204:E1246D;ENSP00000384990:E1027D;ENSP00000382195:E1027D;ENSP00000444682:E1064D	ENSP00000382195:E1027D	E	-	3	2	JMJD1C	64637697	1.000000	0.71417	0.996000	0.52242	0.585000	0.36419	0.869000	0.27996	-0.168000	0.10853	-1.773000	0.00660	GAA	.	.	none		0.443	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64967691	T	A	64967691	3	1	32	1	0	0	0	0	1	0	0	0	7950	1490	52	5	3952	5	JMJD1C	10	64967691	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	43658577	64967691	70567056	134	22911										
HKDC1	80201	hgsc.bcm.edu	37	chr10	70998835	70998835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gacaaaaaagtttaaggcacGaggagttcaggacacggatg	13	6	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:70998835G>A	ENST00000354624.5	+	5	666	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	HKDC1_ENST00000395086.2_Missense_Mutation_p.R178Q	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	178	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTTAAGGCACGAGGAGTTCAG	0.522																																					p.R178Q		Atlas-SNP	.											HKDC1,NS,carcinoma,+1,2	HKDC1	98	2	0			c.G533A						PASS	.						88	78	81					10																	70998835		2203	4300	6503	SO:0001583	missense	80201	exon5			AGGCACGAGGAGT		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.533G>A	10.37:g.70998835G>A	ENSP00000346643:p.Arg178Gln	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	88	28	0.318182	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242803	0.39598	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98968	-5.28;-5.28	4.92	4.92	0.64577	Hexokinase, N-terminal (1);	0.060279	0.64402	D	0.000004	D	0.96476	0.8850	N	0.25789	0.76	0.19300	N	0.999972	B	0.14805	0.011	B	0.14023	0.01	D	0.90277	0.4312	10	0.72032	D	0.01	-15.4141	18.6753	0.91526	0.0:0.0:1.0:0.0	.	178	Q2TB90	HKDC1_HUMAN	Q	178	ENSP00000346643:R178Q;ENSP00000378521:R178Q	ENSP00000346643:R178Q	R	+	2	0	HKDC1	70668841	0.844000	0.29557	0.186000	0.23195	0.199000	0.23934	4.461000	0.60115	2.708000	0.92522	0.655000	0.94253	CGA	.	.	none		0.522	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		A	70998835	G	A	70998835	3	1	32	1	0	0	0	0	1	0	0	0	7193	1058	37	1	551	1	HKDC1	10	70998835	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	6031144	70998835	64535912	135	22912										
SGPL1	8879	hgsc.bcm.edu	37	chr10	72633215	72633215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagggtggcatctatgcttcCccaaccatcgcaggctcacg	10	15	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:72633215C>T	ENST00000373202.3	+	12	1367	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	389					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TCTATGCTTCCCCAACCATCG	0.512																																					p.S389S	Colon(151;1054 2458 6676 40971)	Atlas-SNP	.											.	SGPL1	37	.	0			c.C1167T						PASS	.						151	130	137					10																	72633215		2203	4300	6503	SO:0001819	synonymous_variant	8879	exon12			TGCTTCCCCAACC	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1167C>T	10.37:g.72633215C>T		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	113	13	0.115044	NM_003901	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	CCDS31216.1																																																																																			.	.	none		0.512	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		T	72633215	C	T	72633215	2	4	32	1	0	0	0	0	0	0	0	1	14218	610	22	2		2	SGPL1	10	72633215	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1634380	72633215	62901532	136	22913										
CAMK2G	818	hgsc.bcm.edu	37	chr10	75608359	75608359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggacaagtaacctggggtgcCagcaaaacctgtagcaaaag	12	9	0	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:75608359C>T	ENST00000351293.3	-	8	583	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.G176S|CAMK2G_ENST00000394762.2_Missense_Mutation_p.G176S|CAMK2G_ENST00000372765.1_Missense_Mutation_p.G176S|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322635.3_Missense_Mutation_p.G176S|CAMK2G_ENST00000423381.1_Missense_Mutation_p.G176S|CAMK2G_ENST00000322680.3_Missense_Mutation_p.G176S	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CCTGGGGTGCCAGCAAAACCT	0.517											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G176S		Atlas-SNP	.											.	CAMK2G	79	.	0			c.G526A						PASS	.						46	44	44					10																	75608359		2203	4300	6503	SO:0001583	missense	818	exon8			GGGTGCCAGCAAA	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.526G>A	10.37:g.75608359C>T	ENSP00000277853:p.Gly176Ser	Somatic	71	0	0	1161	WXS	Illumina HiSeq	Phase_I	85	22	0.258824	NM_172170	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280223	0.80692	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.62	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127013	0.52532	D	0.000064	T	0.73682	0.3618	M	0.93594	3.435	0.80722	D	1	D;D;D;P;D;D;D;D	0.89917	0.993;0.997;0.968;0.863;0.974;1.0;0.998;0.999	D;D;P;P;D;D;D;D	0.97110	0.964;0.983;0.893;0.677;0.935;1.0;0.977;1.0	T	0.82559	-0.0397	10	0.87932	D	0	.	16.5573	0.84488	0.0:0.8693:0.1307:0.0	.	168;176;176;176;176;176;176;176	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	S	176;176;176;176;176;176;111;176;176	ENSP00000277853:G176S;ENSP00000315599:G176S;ENSP00000410298:G176S;ENSP00000319060:G176S;ENSP00000378243:G176S;ENSP00000393784:G111S;ENSP00000307082:G176S;ENSP00000361851:G176S	ENSP00000307082:G176S	G	-	1	0	CAMK2G	75278365	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.818000	0.86416	1.351000	0.45789	-0.176000	0.13171	GGC	.	.	none		0.517	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		T	75608359	C	T	75608359	3	4	32	1	0	0	0	0	1	0	0	0	2602	594	21	2	1300	2	CAMK2G	10	75608359	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	2975144	75608359	59926388	137	22914										
GRID1	2894	hgsc.bcm.edu	37	chr10	87898678	87898678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tctgtcttcatcgtggtgaaGaggctggtgaatacgtggct	14	7	3	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:87898678G>A	ENST00000327946.7	-	4	709	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	208					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCGTGGTGAAGAGGCTGGTGA	0.577										Multiple Myeloma(13;0.14)																											p.L208L		Atlas-SNP	.											.	GRID1	204	.	0			c.C624T						PASS	.						226	197	207					10																	87898678		2203	4300	6503	SO:0001819	synonymous_variant	2894	exon4			GGTGAAGAGGCTG	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.624C>T	10.37:g.87898678G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	70	14	0.2	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																			.	.	none		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87898678	G	A	87898678	2	1	32	1	0	0	0	0	0	0	0	1	6771	929	33	2		2	GRID1	10	87898678	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	12290319	87898678	47636069	138	22915										
C10orf137	26098	hgsc.bcm.edu	37	chr10	127429569	127429569	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttccctccctttctaaacaGatacttattgctgcctctgc	4	15	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr10:127429569G>A	ENST00000356792.4	+	17	2402		c.e17-1		C10orf137_ENST00000337623.3_Splice_Site	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN							regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCTAAACAGATACTTATTG	0.378																																					.		Atlas-SNP	.											.	C10orf137	153	.	0			c.2171-1G>A						PASS	.						123	125	124					10																	127429569		2203	4300	6503	SO:0001630	splice_region_variant	26098	exon17			TAAACAGATACTT																												ENST00000356792.4:c.2171-1G>A	10.37:g.127429569G>A		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	209	50	0.239234	NM_001202438	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062592	0.36373	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf137	127419559	1.000000	0.71417	0.954000	0.39281	0.103000	0.19146	9.476000	0.97823	2.596000	0.87737	0.650000	0.86243	.	.	.	none		0.378	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Intron	A	127429569	G	A	127429569	5	1	32	1	0	0	0	0	0	0	1	0	1594	956	33	2	2130	2	C10orf137	10	127429569	Splice_Site	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	39530891	127429569	8105178	139	22916										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	19	4	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																					p.P2011S		Atlas-SNP	.											MUC6_ENST00000421673,extremity,malignant_melanoma,0,1	MUC6	408	1	1	Substitution - Missense(1)	skin(1)	c.C6031T						scavenged	.																																			SO:0001583	missense	4588	exon31			AGAAAGGTGGAAC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic	576	6	0.0104167		WXS	Illumina HiSeq	Phase_I	531	17	0.0320151	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT	.	.	none		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	32	1	0	0	0	0	1	0	0	0	9980	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		1016770	133989746	140	22917										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtctggaaggatgttgcagtCataggacctgtggaagagaa							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	619	31	0.0500808		WXS	Illumina HiSeq	Phase_I	592	26	0.0439189	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	32	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	79	1016849	133989667	141	22918	467	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1016851	1016851	+	Missense_Mutation	SNP	T	T	C													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctggaaggatgttgcagtcaTaggacctgtggaagagaagg							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:1016851T>C	ENST00000421673.2	-	31	6000	c.5950A>G	c.(5950-5952)Atg>Gtg	p.M1984V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGCAGTCATAGGACCTGTG	0.582																																					p.M1984V		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,+2,2	MUC6	408	2	0			c.A5950G						scavenged	.						1531	1522	1525					11																	1016851		2203	4298	6501	SO:0001583	missense	4588	exon31			CAGTCATAGGACC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5950A>G	11.37:g.1016851T>C	ENSP00000406861:p.Met1984Val	Somatic	609	31	0.0509031		WXS	Illumina HiSeq	Phase_I	584	24	0.0410959	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487796	0.04352	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.75	-1.23	0.09465	.	.	.	.	.	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.06365	T	0.9	.	7.0983	0.25321	0.0:0.1589:0.2688:0.5723	.	1984	Q6W4X9	MUC6_HUMAN	V	1984	ENSP00000406861:M1984V	ENSP00000406861:M1984V	M	-	1	0	MUC6	1006851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-0.732000	0.04856	-2.319000	0.00253	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016851	T	C	1016851	3	2	32	1	0	0	0	0	1	0	0	0	9980	1406	49	2	1381	2	MUC6	11	1016851	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	2	1016851	133989665	142	22919	467	2								
OR56A3	390083	hgsc.bcm.edu	37	chr11	5968801	5968801	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctcctctccctgctggacatCgtgctctgcctcactgtcat	7	17	4	0	rs200944882		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:5968801C>G	ENST00000329564.6	+	1	232	c.225C>G	c.(223-225)atC>atG	p.I75M	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGACATCGTGCTCTGCC	0.592																																					p.I75M		Atlas-SNP	.											.	OR56A3	81	.	0			c.C225G						PASS	.						143	138	140					11																	5968801		2201	4296	6497	SO:0001583	missense	390083	exon1			GGACATCGTGCTC		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.225C>G	11.37:g.5968801C>G	ENSP00000331572:p.Ile75Met	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	142	57	0.401408	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.606553	0.00121	.	.	ENSG00000184478	ENST00000329564	T	0.04809	3.55	5.13	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	0.200388	0.34628	N	0.003816	T	0.02688	0.0081	L	0.31120	0.905	0.18873	N	0.999985	B	0.19073	0.033	B	0.23419	0.046	T	0.54788	-0.8241	10	0.72032	D	0.01	-6.3985	4.617	0.12432	0.1316:0.3919:0.315:0.1615	.	75	Q8NH54	O56A3_HUMAN	M	75	ENSP00000331572:I75M	ENSP00000331572:I75M	I	+	3	3	OR56A3	5925377	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-7.065000	0.00045	-6.004000	0.00007	-1.847000	0.00572	ATC	C|1.000;T|0.000	.	alt		0.592	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		G	5968801	C	G	5968801	3	3	32	1	0	0	0	0	1	0	0	0	11134	874	31	4	227	4	OR56A3	11	5968801	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	4951950	5968801	129037715	143	22920										
DNHD1	144132	hgsc.bcm.edu	37	chr11	6567484	6567484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	actgtaccaggaggcttcccGaaacacaagcaccatagacc	8	14	0	1	rs553002964		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:6567484G>A	ENST00000527990.2	+	19	5315	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1772Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1772					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGGCTTCCCGAAACACAAGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20636	0.001		0.0	False		,,,				2504	0.0				p.R1772Q		Atlas-SNP	.											DNHD1,NS,carcinoma,+1,2	DNHD1	198	2	0			c.G5315A						PASS	.						41	38	39					11																	6567484		692	1591	2283	SO:0001583	missense	144132	exon21			CTTCCCGAAACAC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5315G>A	11.37:g.6567484G>A	ENSP00000436180:p.Arg1772Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	107	53	0.495327	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	6.129	0.391949	0.11581	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.56444	0.46;0.46	5.23	-1.78	0.07957	.	0.765678	0.12088	N	0.500700	T	0.39118	0.1066	L	0.46157	1.445	0.09310	N	0.999997	B	0.28512	0.214	B	0.22601	0.04	T	0.25779	-1.0122	10	0.16896	T	0.51	.	11.3716	0.49702	0.4825:0.0:0.5175:0.0	.	1772	Q96M86	DNHD1_HUMAN	Q	1772;1772;63	ENSP00000254579:R1772Q;ENSP00000436180:R1772Q	ENSP00000254579:R1772Q	R	+	2	0	DNHD1	6524060	0.055000	0.20627	0.403000	0.26384	0.455000	0.32408	-0.215000	0.09279	-0.191000	0.10448	-0.345000	0.07892	CGA	.	.	none		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6567484	G	A	6567484	3	1	32	1	0	0	0	0	1	0	0	0	4668	1058	37	1	5398	1	DNHD1	11	6567484	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	598683	6567484	128439032	144	22921										
ILK	3611	hgsc.bcm.edu	37	chr11	6629314	6629314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccccttgcactgggcctgccGagagggccgctctgctgtgg	15	15	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:6629314G>A	ENST00000396751.2	+	2	584	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Missense_Mutation_p.R43Q|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_Missense_Mutation_p.R43Q|ILK_ENST00000299421.4_Missense_Mutation_p.R43Q	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	43	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGGGCCTGCCGAGAGGGCCGC	0.582																																					p.R43Q		Atlas-SNP	.											ILK_ENST00000299421,NS,malignant_melanoma,0,1	ILK	41	1	0			c.G128A						PASS	.						66	62	63					11																	6629314		2201	4296	6497	SO:0001583	missense	3611	exon3			CCTGCCGAGAGGG	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.128G>A	11.37:g.6629314G>A	ENSP00000379975:p.Arg43Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	81	12	0.148148	NM_001014794	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633208	0.87660	.	.	ENSG00000166333	ENST00000299421;ENST00000420936;ENST00000528995;ENST00000396751	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.73	5.73	0.89815	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	N	0.25031	0.7	0.80722	D	1	B;P	0.38504	0.077;0.634	B;B	0.38428	0.273;0.038	T	0.56733	-0.7930	10	0.52906	T	0.07	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	43;43	B7Z418;Q13418	.;ILK_HUMAN	Q	43	ENSP00000299421:R43Q;ENSP00000403487:R43Q;ENSP00000435323:R43Q;ENSP00000379975:R43Q	ENSP00000299421:R43Q	R	+	2	0	ILK	6585890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	CGA	.	.	none		0.582	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		A	6629314	G	A	6629314	3	1	32	1	0	0	0	0	1	0	0	0	7713	1058	37	1	134	1	ILK	11	6629314	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	61830	6629314	128377202	145	22922										
SWAP70	23075	hgsc.bcm.edu	37	chr11	9761816	9761816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acgggagctggaagacatgtAcctaaagctgcaggaggctc	14	9	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:9761816A>G	ENST00000318950.6	+	9	1380	c.1277A>G	c.(1276-1278)tAc>tGc	p.Y426C	SWAP70_ENST00000447399.2_Missense_Mutation_p.Y368C	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	426					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGACATGTACCTAAAGCTG	0.493																																					p.Y426C		Atlas-SNP	.											.	SWAP70	40	.	0			c.A1277G						PASS	.						102	97	98					11																	9761816		2201	4294	6495	SO:0001583	missense	23075	exon9			ACATGTACCTAAA	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1277A>G	11.37:g.9761816A>G	ENSP00000315630:p.Tyr426Cys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	67	25	0.373134	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948666	0.73787	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.21734	1.99;1.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.22173	-1.0224	10	0.45353	T	0.12	-10.3002	15.2595	0.73610	1.0:0.0:0.0:0.0	.	368;426;368	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	C	368;426	ENSP00000399056:Y368C;ENSP00000315630:Y426C	ENSP00000315630:Y426C	Y	+	2	0	SWAP70	9718392	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.962000	0.93254	2.006000	0.58801	0.402000	0.26972	TAC	.	.	none		0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		G	9761816	A	G	9761816	3	3	32	1	0	0	0	0	1	0	0	0	15422	391	14	2	1311	2	SWAP70	11	9761816	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	3132502	9761816	125244700	146	22923										
ANO3	63982	hgsc.bcm.edu	37	chr11	26538445	26538445	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gacacgctgtgcaagtatgcAgagaggctgaatatcaggat	13	7	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:26538445A>C	ENST00000256737.3	+	6	1515	c.663A>C	c.(661-663)gcA>gcC	p.A221A	ANO3_ENST00000537978.1_Silent_p.A205A|ANO3_ENST00000525139.1_Silent_p.A205A|ANO3_ENST00000531568.1_Silent_p.A75A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	221					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAAGTATGCAGAGAGGCTGA	0.363																																					p.A221A		Atlas-SNP	.											.	ANO3	145	.	0			c.A663C						PASS	.						84	83	84					11																	26538445		2203	4299	6502	SO:0001819	synonymous_variant	63982	exon6			GTATGCAGAGAGG	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.663A>C	11.37:g.26538445A>C		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	182	55	0.302198	NM_031418	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																			.	.	none		0.363	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		C	26538445	A	C	26538445	2	2	32	1	0	0	0	0	0	0	0	1	698	175	7	5		5	ANO3	11	26538445	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	16776629	26538445	108468071	147	22924										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	448	16	0.0357143		WXS	Illumina HiSeq	Phase_I	378	19	0.0502645	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	32	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	29117152	55655597	79350919	148	22925										
C11orf87	399947	hgsc.bcm.edu	37	chr11	109294503	109294503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggcagcggcacctgcatcacGcaggtgggacagcagctctt	14	13	2	0	rs558968039		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:109294503G>A	ENST00000327419.6	+	2	547	c.144G>A	c.(142-144)acG>acA	p.T48T	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17890	0.001		0.0	False		,,,				2504	0.0				p.T48T		Atlas-SNP	.											C11orf87,NS,carcinoma,+1,1	C11orf87	37	1	0			c.G144A						scavenged	.						128	101	110					11																	109294503		2201	4298	6499	SO:0001819	synonymous_variant	399947	exon2			CATCACGCAGGTG	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.144G>A	11.37:g.109294503G>A		Somatic	219	1	0.00456621		WXS	Illumina HiSeq	Phase_I	139	23	0.165468	NM_207645	B4E169	Silent	SNP	ENST00000327419.6	37	CCDS31672.1																																																																																			.	.	none		0.637	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		A	109294503	G	A	109294503	2	1	32	1	0	0	0	0	0	0	0	1	1669	1074	38	1		1	C11orf87	11	109294503	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	53638906	109294503	25712013	149	22926										
ROBO3	64221	hgsc.bcm.edu	37	chr11	124748633	124748633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tccacagccactcttacaccCtcacctcctgaccctcccca	2	23	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr11:124748633C>T	ENST00000397801.1	+	23	3666	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Silent_p.P1136P|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1158					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCTTACACCCTCACCTCCTG	0.592																																					p.P1158P		Atlas-SNP	.											.	ROBO3	199	.	0			c.C3474T						PASS	.						61	72	68					11																	124748633		2034	4171	6205	SO:0001819	synonymous_variant	64221	exon23			TACACCCTCACCT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3474C>T	11.37:g.124748633C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	24	9	0.375	NM_022370		Silent	SNP	ENST00000397801.1	37	CCDS44755.1																																																																																			.	.	none		0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		T	124748633	C	T	124748633	2	4	32	1	0	0	0	0	0	0	0	1	13515	668	24	2		2	ROBO3	11	124748633	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	15454130	124748633	10257883	150	22927										
LRRC23	10233	hgsc.bcm.edu	37	chr12	7016547	7016547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcctgcacacagtggagcttCgggggaaccagctggaaagc	15	11	0	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:7016547C>T	ENST00000007969.8	+	5	779	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Missense_Mutation_p.R187W|LRRC23_ENST00000443597.2_Missense_Mutation_p.R187W|LRRC23_ENST00000323702.5_Missense_Mutation_p.R187W|LRRC23_ENST00000433346.1_Missense_Mutation_p.R187W	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	187										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGTGGAGCTTCGGGGGAACCA	0.572																																					p.R187W		Atlas-SNP	.											LRRC23,colon,carcinoma,0,2	LRRC23	46	2	0			c.C559T						PASS	.						123	119	120					12																	7016547		2203	4300	6503	SO:0001583	missense	10233	exon5			GAGCTTCGGGGGA	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.559C>T	12.37:g.7016547C>T	ENSP00000007969:p.Arg187Trp	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	85	28	0.329412	NM_001135217	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291656	0.80914	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.63096	1.88;-0.02;2.17;-0.02;2.18	5.59	5.59	0.84812	.	.	.	.	.	D	0.82953	0.5149	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.998;0.998	D	0.85330	0.1089	9	0.72032	D	0.01	-26.1317	19.586	0.95490	0.0:1.0:0.0:0.0	.	187;187;187;187;187	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	W	187	ENSP00000402554:R187W;ENSP00000007969:R187W;ENSP00000317464:R187W;ENSP00000390932:R187W;ENSP00000396049:R187W	ENSP00000007969:R187W	R	+	1	2	LRRC23	6886808	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.769000	0.62300	2.624000	0.88883	0.462000	0.41574	CGG	.	.	none		0.572	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		T	7016547	C	T	7016547	3	4	32	1	0	0	0	0	1	0	0	0	8978	875	31	1	573	1	LRRC23	12	7016547	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10		7016547	126835348	151	22928										
CLEC7A	64581	hgsc.bcm.edu	37	chr12	10278006	10278006	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaatagataacagctcttctCatatataatccaattaggag	6	7	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:10278006C>A	ENST00000304084.8	-	4	536	c.382G>T	c.(382-384)Gag>Tag	p.E128*	CLEC7A_ENST00000298523.5_Nonsense_Mutation_p.E82*|CLEC7A_ENST00000533022.1_Nonsense_Mutation_p.E128*|CLEC7A_ENST00000353231.5_Nonsense_Mutation_p.E82*|CLEC7A_ENST00000396484.2_Nonsense_Mutation_p.E49*	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CAGCTCTTCTCATATATAATC	0.398																																					p.E128X		Atlas-SNP	.											.	CLEC7A	55	.	0			c.G382T						PASS	.						68	67	67					12																	10278006		2203	4300	6503	SO:0001587	stop_gained	64581	exon4			TCTTCTCATATAT	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.382G>T	12.37:g.10278006C>A	ENSP00000302569:p.Glu128*	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	56	20	0.357143	NM_197947	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Nonsense_Mutation	SNP	ENST00000304084.8	37	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166740	0.57476	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022	.	.	.	4.68	1.88	0.25563	.	0.545935	0.16857	N	0.196677	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.8851	0.13699	0.0:0.6358:0.1758:0.1884	.	.	.	.	X	82;82;49;128;128	.	ENSP00000298523:E82X	E	-	1	0	CLEC7A	10169273	0.004000	0.15560	0.001000	0.08648	0.738000	0.42128	0.694000	0.25512	0.452000	0.26830	0.650000	0.86243	GAG	.	.	none		0.398	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		A	10278006	C	A	10278006	4	1	32	1	0	0	0	0	0	1	0	0	3521	835	29	4	373	4	CLEC7A	12	10278006	Nonsense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3261459	10278006	123573889	152	22929										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506288	11506288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	19	6	0	1	rs140825288	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:11506288T>C	ENST00000500254.2	-	4	387	c.350A>G	c.(349-351)aAa>aGa	p.K117R	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.K117R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.612													t|||	39	0.00778754	0.0106	0.0086	5008	,	,		16399	0.0079		0.0099	False		,,,				2504	0.001				p.K117R		Atlas-SNP	.											PRB1,NS,carcinoma,0,2	PRB1	33	2	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.A350G						scavenged	.						92	112	105					12																	11506288		2098	4245	6343	SO:0001583	missense	5542	exon4			TGAGGTTTGTTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.350A>G	12.37:g.11506288T>C	ENSP00000420826:p.Lys117Arg	Somatic	565	8	0.0141593		WXS	Illumina HiSeq	Phase_I	524	13	0.0248092	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.431560	0.01108	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.04119	3.7;3.7	1.29	-1.39	0.08997	.	.	.	.	.	T	0.03871	0.0109	L	0.39147	1.195	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.44544	-0.9321	8	.	.	.	.	5.2744	0.15641	0.0:0.2701:0.0:0.7299	.	257;117	Q86YA1;G3V1M9	.;.	R	117	ENSP00000420826:K117R;ENSP00000442127:K117R	.	K	-	2	0	PRB1	11397555	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.188000	0.17018	-0.320000	0.08640	0.113000	0.15668	AAA	.	.	weak		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506288	T	C	11506288	3	2	32	1	0	0	0	0	1	0	0	0	12442	1841	64	2	250	2	PRB1	12	11506288	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	1228282	11506288	122345607	153	22930										
PRB1	5542	hgsc.bcm.edu	37	chr12	11508468	11508468	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcagggccagcaaggccactGacagcagaatcaacagcatc	10	13	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:11508468G>T	ENST00000500254.2	-	1	57	c.20C>A	c.(19-21)tCa>tAa	p.S7*	PRB1_ENST00000545626.1_Nonsense_Mutation_p.S7*|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CAAGGCCACTGACAGCAGAAT	0.498																																					p.S7X		Atlas-SNP	.											.	PRB1	33	.	0			c.C20A						PASS	.						79	77	78					12																	11508468		2180	4276	6456	SO:0001587	stop_gained	5542	exon1			GCCACTGACAGCA		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.20C>A	12.37:g.11508468G>T	ENSP00000420826:p.Ser7*	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	138	27	0.195652	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Nonsense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061179	0.36373	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	.	.	.	1.39	-2.22	0.06952	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4435	0.16521	0.6557:0.0:0.3443:0.0	.	.	.	.	X	7	.	ENSP00000420826:S7X	S	-	2	0	PRB1	11399735	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.518000	0.22847	-0.773000	0.04596	-0.259000	0.10710	TCA	.	.	none		0.498	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11508468	G	T	11508468	4	4	32	1	0	0	0	0	0	1	0	0	12442	1294	45	4	987	4	PRB1	12	11508468	Nonsense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	2180	11508468	122343427	154	22931										
DUSP16	80824	hgsc.bcm.edu	37	chr12	12653527	12653527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tggcccaatgttggcaacagGtaagcaaggctgagaaatgc	13	8	0	1	rs369986596		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:12653527G>C	ENST00000228862.2	-	4	1088	c.457C>G	c.(457-459)Cct>Gct	p.P153A	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	153					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGGCAACAGGTAAGCAAGGC	0.468																																					p.P153A	Ovarian(158;443 1896 15437 36069 46477)	Atlas-SNP	.											.	DUSP16	64	.	0			c.C457G						PASS	.	G	ALA/PRO	0,4406		0,0,2203	117	104	108		457	5.2	1	12		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP16	NM_030640.2	27	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	153/666	12653527	1,13005	2203	4300	6503	SO:0001583	missense	80824	exon4			CAACAGGTAAGCA	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.457C>G	12.37:g.12653527G>C	ENSP00000228862:p.Pro153Ala	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	114	38	0.333333	NM_030640	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622442	0.87460	0.0	1.16E-4	ENSG00000111266	ENST00000228862	T	0.59364	0.27	5.24	5.24	0.73138	.	0.260739	0.37393	N	0.002114	T	0.59985	0.2234	L	0.59436	1.845	0.80722	D	1	P	0.38455	0.632	B	0.39339	0.297	T	0.65352	-0.6189	10	0.72032	D	0.01	.	19.1583	0.93520	0.0:0.0:1.0:0.0	.	153	Q9BY84	DUS16_HUMAN	A	153	ENSP00000228862:P153A	ENSP00000228862:P153A	P	-	1	0	DUSP16	12544794	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.929000	0.70096	2.606000	0.88127	0.551000	0.68910	CCT	.	.	weak		0.468	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		C	12653527	G	C	12653527	3	2	32	1	0	0	0	0	1	0	0	0	4816	1261	44	4	1556	4	DUSP16	12	12653527	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1145059	12653527	121198368	155	22932										
GRIN2B	2904	hgsc.bcm.edu	37	chr12	13717016	13717016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcggagcggatcaagtcgtcGtggccactgtagcggtcgct	15	11	1	0	rs543452359		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:13717016G>A	ENST00000609686.1	-	13	3365	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1052					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCAAGTCGTCGTGGCCACTGT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17988	0.001		0.0	False		,,,				2504	0.0				p.H1052H		Atlas-SNP	.											.	GRIN2B	303	.	0			c.C3156T						PASS	.						61	52	55					12																	13717016		2203	4300	6503	SO:0001819	synonymous_variant	2904	exon13			GTCGTCGTGGCCA		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3156C>T	12.37:g.13717016G>A		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	167	27	0.161677	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																			.	.	none		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13717016	G	A	13717016	2	1	32	1	0	0	0	0	0	0	0	1	6780	1136	40	1		1	GRIN2B	12	13717016	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1063489	13717016	120134879	156	22933										
HIST4H4	121504	hgsc.bcm.edu	37	chr12	14923847	14923847	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctccaggaagactttgaggaCtccccgggtctcctcgtaga	11	13	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:14923847C>G	ENST00000539745.1	-	1	218	c.172G>C	c.(172-174)Gtc>Ctc	p.V58L	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	58					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						ACTTTGAGGACTCCCCGGGTC	0.597											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V58L		Atlas-SNP	.											.	HIST4H4	13	.	0			c.G172C						PASS	.						83	70	74					12																	14923847		2203	4300	6503	SO:0001583	missense	121504	exon1			TGAGGACTCCCCG	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.172G>C	12.37:g.14923847C>G	ENSP00000443017:p.Val58Leu	Somatic	116	0	0	698	WXS	Illumina HiSeq	Phase_I	83	12	0.144578	NM_175054	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442037	0.83993	.	.	ENSG00000197837	ENST00000539745	T	0.71222	-0.55	4.08	4.08	0.47627	.	0.000000	0.39407	U	0.001377	T	0.79551	0.4465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82265	-0.0543	7	0.66056	D	0.02	.	14.2139	0.65781	0.0:1.0:0.0:0.0	.	.	.	.	L	58	ENSP00000443017:V58L	ENSP00000350767:V58L	V	-	1	0	HIST4H4	14815114	1.000000	0.71417	0.694000	0.30210	0.948000	0.59901	5.385000	0.66231	2.285000	0.76669	0.585000	0.79938	GTC	.	.	none		0.597	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		G	14923847	C	G	14923847	3	3	32	1	0	0	0	0	1	0	0	0	7185	565	20	4	143	4	HIST4H4	12	14923847	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1206831	14923847	118928048	157	22934										
HOXC13	3229	hgsc.bcm.edu	37	chr12	54339026	54339026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcaaatcgaaagcgcctcatCtccactccacctgaccaccc	5	19	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:54339026C>T	ENST00000243056.3	+	2	1135	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	327					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						AGCGCCTCATCTCCACTCCAC	0.577			T	NUP98	AML																																p.L327F		Atlas-SNP	.		Dom	yes		12	12q13.3	3229	homeo box C13		L	.	HOXC13	24	.	0			c.C979T						PASS	.						70	71	71					12																	54339026		2203	4300	6503	SO:0001583	missense	3229	exon2			CCTCATCTCCACT		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.979C>T	12.37:g.54339026C>T	ENSP00000243056:p.Leu327Phe	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940705	0.52972	.	.	ENSG00000123364	ENST00000243056	D	0.93712	-3.27	4.57	3.68	0.42216	Homeodomain-like (1);	0.067197	0.56097	D	0.000026	D	0.90184	0.6932	L	0.54863	1.705	0.44694	D	0.997683	B	0.29432	0.244	B	0.26969	0.075	D	0.88725	0.3232	10	0.46703	T	0.11	.	12.2927	0.54827	0.0:0.9148:0.0:0.0851	.	327	P31276	HXC13_HUMAN	F	327	ENSP00000243056:L327F	ENSP00000243056:L327F	L	+	1	0	HOXC13	52625293	.	.	0.997000	0.53966	0.984000	0.73092	.	.	1.530000	0.49136	0.655000	0.94253	CTC	.	.	none		0.577	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			T	54339026	C	T	54339026	3	4	32	1	0	0	0	0	1	0	0	0	7312	913	32	2	985	2	HOXC13	12	54339026	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	39415179	54339026	79512869	158	22935										
PDE1B	5153	hgsc.bcm.edu	37	chr12	54963009	54963009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cgagctgcaggagctgcggtCagatgccgtgccttcggagg	17	11	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:54963009C>T	ENST00000243052.3	+	4	705	c.269C>T	c.(268-270)tCa>tTa	p.S90L	PDE1B_ENST00000550620.1_Missense_Mutation_p.S70L|PDE1B_ENST00000538346.1_Missense_Mutation_p.S49L|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	90					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAGCTGCGGTCAGATGCCGTG	0.637																																					p.S90L		Atlas-SNP	.											.	PDE1B	76	.	0			c.C269T						PASS	.						67	70	69					12																	54963009		2203	4300	6503	SO:0001583	missense	5153	exon4			TGCGGTCAGATGC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.269C>T	12.37:g.54963009C>T	ENSP00000243052:p.Ser90Leu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	79	38	0.481013	NM_000924	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	37	6.389836	0.97529	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70164	-0.46;-0.43;-0.44	4.97	4.97	0.65823	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.162433	0.42682	D	0.000677	T	0.71074	0.3297	L	0.45581	1.43	0.58432	D	0.999992	P;P	0.43701	0.779;0.815	P;P	0.52189	0.484;0.692	T	0.70285	-0.4914	10	0.40728	T	0.16	.	16.096	0.81123	0.0:1.0:0.0:0.0	.	70;90	Q01064-2;Q01064	.;PDE1B_HUMAN	L	90;49;70	ENSP00000243052:S90L;ENSP00000442559:S49L;ENSP00000448519:S70L	ENSP00000243052:S90L	S	+	2	0	PDE1B	53249276	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.653000	0.83643	2.459000	0.83118	0.655000	0.94253	TCA	.	.	none		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			T	54963009	C	T	54963009	3	4	32	1	0	0	0	0	1	0	0	0	11634	838	29	2	336	2	PDE1B	12	54963009	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	623983	54963009	78888886	159	22936										
AVIL	10677	hgsc.bcm.edu	37	chr12	58197374	58197374	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctcggctggctcctggccctCggccacagtgttctcgctgc	12	17	1	0	rs143313987	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:58197374C>A	ENST00000257861.3	-	14	2180	c.1750G>T	c.(1750-1752)Gag>Tag	p.E584*	RP11-571M6.17_ENST00000602802.1_lincRNA|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000550083.1_Intron|AVIL_ENST00000537081.1_Nonsense_Mutation_p.E577*|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	584	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCTGGCCCTCGGCCACAGTG	0.602											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E584X		Atlas-SNP	.											.	AVIL	60	.	0			c.G1750T						PASS	.						44	40	41					12																	58197374		2203	4300	6503	SO:0001587	stop_gained	10677	exon14			GGCCCTCGGCCAC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1750G>T	12.37:g.58197374C>A	ENSP00000257861:p.Glu584*	Somatic	101	0	0	1029	WXS	Illumina HiSeq	Phase_I	98	21	0.214286	NM_006576	B2RAU7|Q2NKM9	Nonsense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	38	6.941279	0.97952	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	.	.	.	4.86	3.95	0.45737	.	0.098954	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.788	13.9775	0.64282	0.0:0.8466:0.1534:0.0	.	.	.	.	X	577;584	.	ENSP00000257861:E584X	E	-	1	0	AVIL	56483641	1.000000	0.71417	0.982000	0.44146	0.197000	0.23852	5.839000	0.69395	1.216000	0.43427	0.561000	0.74099	GAG	C|1.000;T|0.000	.	alt		0.602	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58197374	C	A	58197374	4	1	32	1	0	0	0	0	0	1	0	0	1227	893	31	4	733	4	AVIL	12	58197374	Nonsense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3234365	58197374	75654521	160	22937										
PTPRR	5801	hgsc.bcm.edu	37	chr12	71092083	71092083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcgatttttagttccatgaCgcggaatatcaatttctttg	8	7	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:71092083C>T	ENST00000283228.2	-	8	1693	c.1241G>A	c.(1240-1242)cGt>cAt	p.R414H	PTPRR_ENST00000549308.1_Missense_Mutation_p.R169H|PTPRR_ENST00000440835.2_Missense_Mutation_p.R169H|PTPRR_ENST00000342084.4_Missense_Mutation_p.R302H|PTPRR_ENST00000378778.1_Missense_Mutation_p.R208H	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	414	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGTTCCATGACGCGGAATATC	0.348																																					p.R414H		Atlas-SNP	.											PTPRR,NS,carcinoma,0,1	PTPRR	109	1	0			c.G1241A						PASS	.						86	88	87					12																	71092083		2202	4300	6502	SO:0001583	missense	5801	exon8			CCATGACGCGGAA	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1241G>A	12.37:g.71092083C>T	ENSP00000283228:p.Arg414His	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	84	25	0.297619	NM_002849	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303861	0.60305	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.245199	0.28940	N	0.013652	T	0.24812	0.0602	N	0.11756	0.17	0.34452	D	0.700805	P;P;D;P	0.58970	0.921;0.86;0.984;0.863	B;B;B;B	0.44044	0.092;0.136;0.439;0.094	T	0.21586	-1.0241	10	0.49607	T	0.09	-5.594	20.0341	0.97551	0.0:1.0:0.0:0.0	.	263;302;208;414	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	H	169;414;208;302;169;169	ENSP00000391750:R169H;ENSP00000283228:R414H;ENSP00000368054:R208H;ENSP00000339605:R302H;ENSP00000446943:R169H;ENSP00000449616:R169H	ENSP00000283228:R414H	R	-	2	0	PTPRR	69378350	0.993000	0.37304	0.998000	0.56505	0.955000	0.61496	3.121000	0.50438	2.753000	0.94483	0.555000	0.69702	CGT	.	.	none		0.348	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71092083	C	T	71092083	3	4	32	1	0	0	0	0	1	0	0	0	12810	536	19	1	760	1	PTPRR	12	71092083	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	12894709	71092083	62759812	161	22938										
ZFC3H1	196441	hgsc.bcm.edu	37	chr12	72038798	72038798	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccattttttactggctgactGaagagccaaaaggcgaagct	10	9	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:72038798G>A	ENST00000378743.3	-	4	1496	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	380					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGGCTGACTGAAGAGCCAAA	0.333																																					p.Q380X		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.C1138T						PASS	.						100	87	91					12																	72038798		1825	4087	5912	SO:0001587	stop_gained	196441	exon4			CTGACTGAAGAGC	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1138C>T	12.37:g.72038798G>A	ENSP00000368017:p.Gln380*	Somatic	469	0	0		WXS	Illumina HiSeq	Phase_I	376	118	0.31383	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417400	0.97550	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.5809	0.95467	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000368017:Q380X	Q	-	1	0	ZFC3H1	70325065	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.519000	0.90563	2.629000	0.89072	0.650000	0.86243	CAG	.	.	none		0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72038798	G	A	72038798	4	1	32	1	0	0	0	0	0	1	0	0	17630	1299	45	2	4959	2	ZFC3H1	12	72038798	Nonsense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	946715	72038798	61813097	162	22939										
LRRIQ1	84125	hgsc.bcm.edu	37	chr12	85449643	85449643	+	Frame_Shift_Del	DEL	A	A	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcaaaaggaagaggaaaggAaaaggagagaaaaagaatat							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:85449643delA	ENST00000393217.2	+	8	1133	c.1072delA	c.(1072-1074)aaafs	p.K358fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	358	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		agaggaaaggaaaaggagaga	0.318																																					p.R357fs		Pindel,Atlas-Indel	.											.	LRRIQ1	512	.	0			c.1071delG						PASS	.						19	21	20					12																	85449643		2186	4268	6454	SO:0001589	frameshift_variant	84125	exon8			.	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1072delA	12.37:g.85449643delA	ENSP00000376910:p.Lys358fs	Somatic	110	.	.		WXS	Illumina HiSeq	Phase_I	96	16	0.167	NM_001079910	Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	CCDS41816.1																																																																																			.	.	none		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		-	85449643	A	-	85449643	7	5	32	1	0	1	0	1	0	0	0	0	9029	247	9	0	1098	0	LRRIQ1	12	85449643	Frame_Shift_Del	DEL	A	TCGA-GS-A9TW-01A-11D-A382-10	13410845	85449643	48402252	163	22940										
ALX1	8092	hgsc.bcm.edu	37	chr12	85677538	85677538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aacggaggcaccgaaccaccTtcaccagtttgcagctagag	10	13	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:85677538T>G	ENST00000316824.3	+	2	570	c.415T>G	c.(415-417)Ttc>Gtc	p.F139V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	139					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCGAACCACCTTCACCAGTTT	0.488																																					p.F139V		Atlas-SNP	.											.	ALX1	61	.	0			c.T415G						PASS	.						133	129	130					12																	85677538		2203	4300	6503	SO:0001583	missense	8092	exon2			ACCACCTTCACCA	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.415T>G	12.37:g.85677538T>G	ENSP00000315417:p.Phe139Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	118	27	0.228814	NM_006982	Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509296	0.85282	.	.	ENSG00000180318	ENST00000316824	D	0.97186	-4.28	5.59	5.59	0.84812	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.98629	4.285	0.80722	D	1	D	0.64830	0.994	D	0.68039	0.955	D	0.99097	1.0842	10	0.87932	D	0	.	16.1145	0.81295	0.0:0.0:0.0:1.0	.	139	Q15699	ALX1_HUMAN	V	139	ENSP00000315417:F139V	ENSP00000315417:F139V	F	+	1	0	ALX1	84201669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.260000	0.74910	0.529000	0.55759	TTC	.	.	none		0.488	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		G	85677538	T	G	85677538	3	3	32	1	0	0	0	0	1	0	0	0	556	1609	56	5	421	5	ALX1	12	85677538	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	227895	85677538	48174357	164	22941										
NT5DC3	51559	hgsc.bcm.edu	37	chr12	104186994	104186994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcctgaacaatgaccacatCgaacaggtccctccagtctt	7	14	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:104186994C>A	ENST00000392876.3	-	9	1007	c.967G>T	c.(967-969)Gat>Tat	p.D323Y		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	323						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D248N(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATGACCACATCGAACAGGTCC	0.428																																					p.D323Y		Atlas-SNP	.											NT5DC3,rectum,carcinoma,0,1	NT5DC3	113	1	1	Substitution - Missense(1)	large_intestine(1)	c.G967T						PASS	.						194	204	200					12																	104186994		2203	4300	6503	SO:0001583	missense	51559	exon9			CCACATCGAACAG	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.967G>T	12.37:g.104186994C>A	ENSP00000376615:p.Asp323Tyr	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	154	42	0.272727	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058257	0.93846	.	.	ENSG00000111696	ENST00000392876	T	0.52057	0.68	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83164	-0.0097	10	0.87932	D	0	-34.2755	20.4777	0.99188	0.0:1.0:0.0:0.0	.	323	Q86UY8	NT5D3_HUMAN	Y	323	ENSP00000376615:D323Y	ENSP00000376615:D323Y	D	-	1	0	NT5DC3	102711124	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAT	.	.	none		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104186994	C	A	104186994	3	1	32	1	0	0	0	0	1	0	0	0	10692	884	31	4	703	4	NT5DC3	12	104186994	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	18509456	104186994	29664901	165	22942										
ZCCHC8	55596	hgsc.bcm.edu	37	chr12	122962423	122962423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgtcggcgggagatcccgctGagttgctttcattcttctgc	12	11	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:122962423G>A	ENST00000336229.4	-	13	1440	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.S199L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S48L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S199L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	437					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCCGCTGAGTTGCTTTC	0.458																																					p.S437L		Atlas-SNP	.											.	ZCCHC8	56	.	0			c.C1310T						PASS	.						90	93	92					12																	122962423		1868	4103	5971	SO:0001583	missense	55596	exon13			CCCGCTGAGTTGC	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1310C>T	12.37:g.122962423G>A	ENSP00000337313:p.Ser437Leu	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	119	31	0.260504	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	9.319	1.057609	0.19907	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054	T;T;T;T	0.47177	0.85;0.85;0.86;0.89	5.8	0.785	0.18584	.	0.920654	0.09181	N	0.837368	T	0.33206	0.0855	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24048	-1.0171	10	0.42905	T	0.14	0.0801	8.1198	0.30965	0.2073:0.1097:0.683:0.0	.	437	Q6NZY4	ZCHC8_HUMAN	L	199;199;437;48;48;199	ENSP00000441423:S199L;ENSP00000438993:S199L;ENSP00000337313:S437L;ENSP00000440028:S48L	ENSP00000337313:S437L	S	-	2	0	ZCCHC8	121528376	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	0.208000	0.17415	-0.120000	0.11809	0.650000	0.86243	TCA	.	.	none		0.458	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		A	122962423	G	A	122962423	3	1	32	1	0	0	0	0	1	0	0	0	17591	1294	45	2	821	2	ZCCHC8	12	122962423	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	18775429	122962423	10889472	166	22943										
KNTC1	9735	hgsc.bcm.edu	37	chr12	123107092	123107092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaatactttcaaatgttgaaGatgcatgcgatgaataccaa	7	6	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:123107092G>A	ENST00000333479.7	+	62	6630	c.6453G>A	c.(6451-6453)aaG>aaA	p.K2151K	KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000534995.1_Silent_p.K72K|KNTC1_ENST00000450485.2_Silent_p.K1076K|KNTC1_ENST00000436959.3_Silent_p.K72K|HCAR1_ENST00000356987.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2151					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAATGTTGAAGATGCATGCGA	0.303																																					p.K2151K		Atlas-SNP	.											.	KNTC1	182	.	0			c.G6453A						PASS	.						48	45	46					12																	123107092		1849	4087	5936	SO:0001819	synonymous_variant	9735	exon62			GTTGAAGATGCAT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6453G>A	12.37:g.123107092G>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	192	58	0.302083	NM_014708	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																			.	.	none		0.303	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123107092	G	A	123107092	2	1	32	1	0	0	0	0	0	0	0	1	8428	933	33	2		2	KNTC1	12	123107092	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	144669	123107092	10744803	167	22944										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124272402	124272402	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttggaagccaggaacaccctCaggctgtggaaaaaggccta	12	10	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:124272402C>T	ENST00000409039.3	+	10	1315	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	430	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAACACCCTCAGGCTGTGGA	0.582																																					p.L430L		Atlas-SNP	.											.	DNAH10	888	.	0			c.C1290T						PASS	.						53	52	52					12																	124272402		2203	4300	6503	SO:0001819	synonymous_variant	196385	exon10			CACCCTCAGGCTG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1290C>T	12.37:g.124272402C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	61	11	0.180328	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			.	.	none		0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124272402	C	T	124272402	2	4	32	1	0	0	0	0	0	0	0	1	4598	813	29	2		2	DNAH10	12	124272402	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1165310	124272402	9579493	168	22945										
DNAH10	196385	hgsc.bcm.edu	37	chr12	124359986	124359986	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cttcaatgtgccatttccttCagaggagtctctgcatttaa	7	10	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr12:124359986C>T	ENST00000409039.3	+	46	7818	c.7793C>T	c.(7792-7794)tCa>tTa	p.S2598L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2598	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATTTCCTTCAGAGGAGTCT	0.443																																					p.S2598L		Atlas-SNP	.											.	DNAH10	888	.	0			c.C7793T						PASS	.						130	120	123					12																	124359986		1884	4112	5996	SO:0001583	missense	196385	exon46			TTCCTTCAGAGGA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7793C>T	12.37:g.124359986C>T	ENSP00000386770:p.Ser2598Leu	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	143	38	0.265734	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652837	0.88056	.	.	ENSG00000197653	ENST00000409039	T	0.36157	1.27	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.314931	0.25839	U	0.027979	T	0.70254	0.3203	H	0.94847	3.59	0.47621	D	0.999473	D	0.57571	0.98	P	0.62184	0.899	T	0.78800	-0.2062	10	0.66056	D	0.02	.	19.6104	0.95604	0.0:1.0:0.0:0.0	.	2598	Q8IVF4	DYH10_HUMAN	L	2598	ENSP00000386770:S2598L	ENSP00000386770:S2598L	S	+	2	0	DNAH10	122925939	0.989000	0.36119	0.924000	0.36721	0.866000	0.49608	3.370000	0.52372	2.702000	0.92279	0.558000	0.71614	TCA	.	.	none		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124359986	C	T	124359986	3	4	32	1	0	0	0	0	1	0	0	0	4598	838	29	2	7975	2	DNAH10	12	124359986	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	87584	124359986	9491909	169	22946										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25672209	25672209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cccagaaagcagttaacagtGctaccggtgttccaactgtt	9	11	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:25672209G>A	ENST00000281589.3	+	1	1910	c.1873G>A	c.(1873-1875)Gct>Act	p.A625T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	625					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTTAACAGTGCTACCGGTGT	0.428																																					p.A625T		Atlas-SNP	.											.	PABPC3	129	.	0			c.G1873A						PASS	.						99	106	104					13																	25672209		2203	4300	6503	SO:0001583	missense	5042	exon1			AACAGTGCTACCG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1873G>A	13.37:g.25672209G>A	ENSP00000281589:p.Ala625Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	48	21	0.4375	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059714	0.19987	.	.	ENSG00000151846	ENST00000281589	T	0.42131	0.98	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.289642	0.23338	U	0.049266	T	0.19565	0.0470	N	0.08118	0	0.25795	N	0.984574	B	0.02656	0.0	B	0.04013	0.001	T	0.15983	-1.0418	10	0.42905	T	0.14	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	625	Q9H361	PABP3_HUMAN	T	625	ENSP00000281589:A625T	ENSP00000281589:A625T	A	+	1	0	PABPC3	24570209	0.671000	0.27521	0.772000	0.31596	0.202000	0.24057	2.323000	0.43823	0.759000	0.33084	0.313000	0.20887	GCT	.	.	none		0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25672209	G	A	25672209	3	1	32	1	0	0	0	0	1	0	0	0	11365	1319	46	2	1875	2	PABPC3	13	25672209	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		25672209	89497669	170	22947										
DCLK1	9201	hgsc.bcm.edu	37	chr13	36428729	36428729	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgactaccaggggttccattAactagaaatacaaagaatca	7	8	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:36428729A>G	ENST00000360631.3	-	6	1153	c.942T>C	c.(940-942)gtT>gtC	p.V314V	DCLK1_ENST00000379893.1_Splice_Site_p.V7V|DCLK1_ENST00000255448.4_Splice_Site_p.V314V|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379892.4_Splice_Site_p.V314V			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	314	Pro/Ser-rich.				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)		GGGTTCCATTAACTAGAAATA	0.453																																					p.V314V		Atlas-SNP	.											.	DCLK1	350	.	0			c.T942C						PASS	.						74	74	74					13																	36428729		2203	4300	6503	SO:0001630	splice_region_variant	9201	exon6			TCCATTAACTAGA	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.941-1T>C	13.37:g.36428729A>G		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	82	21	0.256098	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																				.	.	none		0.453	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Silent	G	36428729	A	G	36428729	5	3	32	1	0	0	0	0	0	0	1	0	4291	376	13	2	1299	2	DCLK1	13	36428729	Splice_Site	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	10756520	36428729	78741149	171	22948										
FREM2	341640	hgsc.bcm.edu	37	chr13	39262600	39262600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagggctacttggtgagcacCgatgatcgcagcctgcccct	12	14	0	2	rs558517957		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:39262600C>T	ENST00000280481.7	+	1	1335	c.1119C>T	c.(1117-1119)acC>acT	p.T373T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	373					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGAGCACCGATGATCGCA	0.582																																					p.T373T		Atlas-SNP	.											.	FREM2	385	.	0			c.C1119T						PASS	.						107	104	105					13																	39262600		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			GAGCACCGATGAT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1119C>T	13.37:g.39262600C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	56	11	0.196429	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.	.	none		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39262600	C	T	39262600	2	4	32	1	0	0	0	0	0	0	0	1	6045	639	23	1		1	FREM2	13	39262600	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	2833871	39262600	75907278	172	22949										
MYCBP2	23077	hgsc.bcm.edu	37	chr13	77754319	77754319	+	De_novo_Start_OutOfFrame	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgctggccagtaatccacaGgtgttagagacgaggtggga	15	7	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:77754319G>T	ENST00000360084.5	-	0	5054				MYCBP2_ENST00000544440.2_Silent_p.T1654T|MYCBP2_ENST00000407578.2_Silent_p.T1692T|MYCBP2_ENST00000357337.6_Silent_p.T1654T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAATCCACAGGTGTTAGAGA	0.458																																					p.T1692T		Atlas-SNP	.											.	MYCBP2	1029	.	0			c.C5076A						PASS	.						140	136	137					13																	77754319		2203	4300	6503			23077	exon34			TCCACAGGTGTTA	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.-2650C>A	13.37:g.77754319G>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	206	62	0.300971	NM_015057		Silent	SNP	ENST00000360084.5	37																																																																																				.	.	none		0.458	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		T	77754319	G	T	77754319	1	4	32	1	0	1	0	0	0	0	0	0	10018	987	35	4		4	MYCBP2	13	77754319	De_novo_Start_OutOfFrame	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	38491719	77754319	37415559	173	22950										
SLITRK5	26050	hgsc.bcm.edu	37	chr13	88328058	88328058	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggagattgcatctaaacaatAataaactggaacttctgcga	8	7	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:88328058A>C	ENST00000325089.6	+	2	634	c.415A>C	c.(415-417)Aat>Cat	p.N139H	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	139					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTAAACAATAATAAACTGGA	0.463																																					p.N139H		Atlas-SNP	.											.	SLITRK5	192	.	0			c.A415C						PASS	.						94	92	93					13																	88328058		2203	4300	6503	SO:0001583	missense	26050	exon2			AACAATAATAAAC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.415A>C	13.37:g.88328058A>C	ENSP00000366283:p.Asn139His	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	148	29	0.195946	NM_015567	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630913	0.46944	.	.	ENSG00000165300	ENST00000325089	T	0.74526	-0.85	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94065	0.7330	9	.	.	.	-10.4756	14.1162	0.65154	1.0:0.0:0.0:0.0	.	139	O94991	SLIK5_HUMAN	H	139	ENSP00000366283:N139H	.	N	+	1	0	SLITRK5	87126059	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.339000	0.96797	2.225000	0.72522	0.379000	0.24179	AAT	.	.	none		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			C	88328058	A	C	88328058	3	2	32	1	0	0	0	0	1	0	0	0	14746	362	13	5	417	5	SLITRK5	13	88328058	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	10573739	88328058	26841820	174	22951										
GPR183	1880	hgsc.bcm.edu	37	chr13	99948277	99948277	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cccacgagcccaatgatgaaGacgaggctgtaatgcagagg	13	10	0	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr13:99948277G>C	ENST00000376414.4	-	2	206	c.123C>G	c.(121-123)gtC>gtG	p.V41V	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	41					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CAATGATGAAGACGAGGCTGT	0.458																																					p.V41V		Atlas-SNP	.											GPR183,NS,carcinoma,-2,1	GPR183	38	1	0			c.C123G						scavenged	.						79	75	77					13																	99948277		2203	4300	6503	SO:0001819	synonymous_variant	1880	exon2			GATGAAGACGAGG	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.123C>G	13.37:g.99948277G>C		Somatic	218	1	0.00458716		WXS	Illumina HiSeq	Phase_I	173	41	0.236994	NM_004951	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	CCDS9492.1																																																																																			.	.	none		0.458	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		C	99948277	G	C	99948277	2	2	32	1	0	0	0	0	0	0	0	1	6678	929	33	4		4	GPR183	13	99948277	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	11620219	99948277	15221601	175	22952										
RNASE3	6037	hgsc.bcm.edu	37	chr14	21360199	21360199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctcataaatccaggtgcacaGaatatttcaaactgcacgta	6	10	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:21360199G>A	ENST00000304639.3	+	2	412	c.354G>A	c.(352-354)caG>caA	p.Q118Q		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	118					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CAGGTGCACAGAATATTTCAA	0.468																																					p.Q118Q		Atlas-SNP	.											.	RNASE3	24	.	0			c.G354A						PASS	.						90	91	91					14																	21360199		2189	4300	6489	SO:0001819	synonymous_variant	6037	exon2			TGCACAGAATATT	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"Ribonucleases, RNase A"	10046	protein-coding gene	gene with protein product	"eosinophil cationic protein"	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.354G>A	14.37:g.21360199G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	129	42	0.325581	NM_002935	Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Silent	SNP	ENST00000304639.3	37	CCDS9560.1																																																																																			.	.	none		0.468	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		A	21360199	G	A	21360199	2	1	32	1	0	0	0	0	0	0	0	1	13405	933	33	2		2	RNASE3	14	21360199	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		21360199	85989341	176	22953										
HECTD1	25831	hgsc.bcm.edu	37	chr14	31598245	31598247	+	In_Frame_Del	DEL	GGA	GGA	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaggtgctggtgcttgcactGgaagatgaccctacttctgt							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:31598245_31598247delGGA	ENST00000399332.1	-	25	4818_4820	c.4330_4332delTCC	c.(4330-4332)tccdel	p.S1445del	HECTD1_ENST00000553700.1_In_Frame_Del_p.S1445del	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1445	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.S1444S(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGCTTGCACTGGAAGATGACCCT	0.458																																					p.1444_1445del		Atlas-Indel	.											.	HECTD1	159	.	1	Substitution - coding silent(1)	lung(1)	c.4331_4333del						PASS	.																																			SO:0001651	inframe_deletion	25831	exon25			.	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4330_4332delTCC	14.37:g.31598245_31598247delGGA	ENSP00000382269:p.Ser1445del	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	208	27	0.129808	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	In_Frame_Del	DEL	ENST00000399332.1	37	CCDS41939.1																																																																																			.	.	none		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			-	31598247	GGA	-	31598245	7	5	32	1	0	1	0	1	0	0	0	0	7039	1335	47	0	3576	0	HECTD1	14	31598245	In_Frame_Del	DEL	GGA	TCGA-GS-A9TW-01A-11D-A382-10	10238046	31598245	75751295	177	22954	468	3								
HECTD1	25831	hgsc.bcm.edu	37	chr14	31598249	31598250	+	Frame_Shift_Ins	INS	-	-	C													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctggtgcttgcactggaagINSatgaccctacttctgtttga							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:31598249_31598250insC	ENST00000399332.1	-	25	4815_4816	c.4327_4328insG	c.(4327-4329)tctfs	p.S1443fs	HECTD1_ENST00000553700.1_Frame_Shift_Ins_p.S1443fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1443	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGCACTGGAAGATGACCCTACT	0.45																																					p.S1443fs		Atlas-Indel	.											.	HECTD1	159	.	0			c.4328_4329insG						PASS	.																																			SO:0001589	frameshift_variant	25831	exon25			.	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4327_4328insG	14.37:g.31598249_31598250insC	ENSP00000382269:p.Ser1443fs	Somatic	290	0	0		WXS	Illumina HiSeq	Phase_I	206	28	0.135922	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Ins	INS	ENST00000399332.1	37	CCDS41939.1																																																																																			.	.	none		0.45	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			C	31598250	-	C	31598249	7	5	32	1	0	1	1	0	0	0	0	0	7039	942	33	0	3580	0	HECTD1	14	31598249	Frame_Shift_Ins	INS	-	TCGA-GS-A9TW-01A-11D-A382-10	4	31598249	75751291	178	22955	468	3								
HECTD1	25831	hgsc.bcm.edu	37	chr14	31598253	31598253	+	Missense_Mutation	SNP	A	A	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggtgcttgcactggaagatgAccctacttctgtttgaggga							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:31598253A>T	ENST00000399332.1	-	25	4812	c.4324T>A	c.(4324-4326)Tca>Aca	p.S1442T	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1442T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1442	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGGAAGATGACCCTACTTCT	0.448																																					p.S1442T		Atlas-SNP	.											.	HECTD1	159	.	0			c.T4324A						PASS	.						144	130	134					14																	31598253		1964	4151	6115	SO:0001583	missense	25831	exon25			AAGATGACCCTAC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4324T>A	14.37:g.31598253A>T	ENSP00000382269:p.Ser1442Thr	Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	211	34	0.161137	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804577	0.16467	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.39997	1.05;1.05;1.15	5.86	5.86	0.93980	.	0.808994	0.10739	U	0.639730	T	0.28067	0.0692	N	0.08118	0	0.46356	D	0.999009	B;B	0.32620	0.378;0.378	B;B	0.32211	0.142;0.142	T	0.15350	-1.0440	10	0.23891	T	0.37	-9.1577	16.5602	0.84551	1.0:0.0:0.0:0.0	.	1442;1442	D3DS86;Q9ULT8	.;HECD1_HUMAN	T	1442;1444;1442;869	ENSP00000450697:S1442T;ENSP00000382269:S1442T;ENSP00000451860:S869T	ENSP00000261312:S1444T	S	-	1	0	HECTD1	30668004	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.678000	0.91211	2.367000	0.80283	0.528000	0.53228	TCA	.	.	none		0.448	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31598253	A	T	31598253	3	4	32	1	0	0	0	0	1	0	0	0	7039	275	10	5	3584	5	HECTD1	14	31598253	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	4	31598253	75751287	179	22956	468	3								
C14orf106	55320	hgsc.bcm.edu	37	chr14	45693171	45693171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cattccttatcctgaattaaAccaggtaagcattctaaggg	7	9	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:45693171A>G	ENST00000310806.4	-	11	3077	c.2619T>C	c.(2617-2619)ggT>ggC	p.G873G		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	873					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTGAATTAAACCAGGTAAGC	0.383																																					p.G873G		Atlas-SNP	.											.	MIS18BP1	92	.	0			c.T2619C						PASS	.						87	83	84					14																	45693171		2203	4300	6503	SO:0001819	synonymous_variant	55320	exon11			AATTAAACCAGGT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2619T>C	14.37:g.45693171A>G		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	140	42	0.3	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	CCDS9684.1																																																																																			.	.	none		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			G	45693171	A	G	45693171	2	3	32	1	0	0	0	0	0	0	0	1	1738	30	2	2		2	C14orf106	14	45693171	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	14094918	45693171	61656369	180	22957										
RPL10L	140801	hgsc.bcm.edu	37	chr14	47120688	47120688	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agccgcactcgcatgtgaaaGccatctctgccacaactttt	7	14	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:47120688G>C	ENST00000298283.3	-	1	340	c.252C>G	c.(250-252)ggC>ggG	p.G84G		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	84					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCATGTGAAAGCCATCTCTGC	0.527																																					p.G84G		Atlas-SNP	.											.	RPL10L	64	.	0			c.C252G						PASS	.						71	69	70					14																	47120688		2203	4300	6503	SO:0001819	synonymous_variant	140801	exon1			GTGAAAGCCATCT	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.252C>G	14.37:g.47120688G>C		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_080746	Q8IUD1	Silent	SNP	ENST00000298283.3	37	CCDS32071.1																																																																																			.	.	none		0.527	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			C	47120688	G	C	47120688	2	2	32	1	0	0	0	0	0	0	0	1	13556	958	34	4		4	RPL10L	14	47120688	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1427517	47120688	60228852	181	22958										
CDKL1	8814	hgsc.bcm.edu	37	chr14	50808859	50808859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcaatactcactcaaaagccGagcaaatccaaagtcacaaa	4	12	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:50808859G>A	ENST00000216378.2	-	5	1092	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	CDKL1_ENST00000395834.1_Missense_Mutation_p.R150W|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CTCAAAAGCCGAGCAAATCCA	0.328																																					p.R150W		Atlas-SNP	.											CDKL1_ENST00000395834,NS,carcinoma,0,2	CDKL1	50	2	0			c.C448T						PASS	.						120	103	109					14																	50808859		2203	4300	6503	SO:0001583	missense	8814	exon4			AAAGCCGAGCAAA	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.448C>T	14.37:g.50808859G>A	ENSP00000216378:p.Arg150Trp	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	133	43	0.323308	NM_004196	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37		.	.	.	.	.	.	.	.	.	.	G	19.86	3.904913	0.72868	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.68025	-0.3;-0.3	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84723	0.5535	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87607	0.2501	9	0.87932	D	0	.	14.1742	0.65529	0.0:0.0:0.85:0.15	.	821;149	Q00532-2;Q00532	.;CDKL1_HUMAN	W	150	ENSP00000379176:R150W;ENSP00000216378:R150W	ENSP00000216378:R150W	R	-	1	2	CDKL1	49878609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.593000	0.61034	2.723000	0.93209	0.655000	0.94253	CGG	.	.	none		0.328	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			A	50808859	G	A	50808859	3	1	32	1	0	0	0	0	1	0	0	0	3153	1057	37	1	652	1	CDKL1	14	50808859	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3688171	50808859	56540681	182	22959										
TRMT5	145389	hgsc.bcm.edu	37	chr14	61446275	61446275	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggcgctgcaatgctgcccttTttagggatcgcatcaattta	10	10	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:61446275T>C	ENST00000267488.4	+	0	0				SLC38A6_ENST00000456840.2_5'Flank|SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.K114R|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGCTGCCCTTTTTAGGGATCG	0.383																																					p.K114R		Atlas-SNP	.											.	TRMT5	44	.	0			c.A341G						PASS	.						178	180	179					14																	61446275		2203	4300	6503	SO:0001631	upstream_gene_variant	57570	exon2			GCCCTTTTTAGGG	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446275T>C	Exception_encountered	Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	238	28	0.117647	NM_020810	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	T	9.300	1.052932	0.19907	.	.	ENSG00000126814	ENST00000261249;ENST00000553903;ENST00000555420	T	0.25250	1.81	4.54	2.16	0.27623	.	0.208180	0.49916	N	0.000135	T	0.19604	0.0471	L	0.41236	1.265	0.30390	N	0.781102	B	0.06786	0.001	B	0.12837	0.008	T	0.13282	-1.0515	10	0.30078	T	0.28	-15.4659	10.5438	0.45047	0.0:0.1521:0.0:0.8479	.	114	Q32P41	TRM5_HUMAN	R	114;142;141	ENSP00000261249:K114R	ENSP00000261249:K114R	K	-	2	0	TRMT5	60516028	1.000000	0.71417	0.945000	0.38365	0.511000	0.34104	1.923000	0.40055	0.039000	0.15632	-1.139000	0.01908	AAA	.	.	none		0.383	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			C	61446275	T	C	61446275	1	2	32	0	1	0	0	0	0	0	0	0	16564	1841	64	2		2	TRMT5	14	61446275	5'Flank	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	10637416	61446275	45903265	183	22960										
SIPA1L1	26037	hgsc.bcm.edu	37	chr14	72152170	72152172	+	In_Frame_Del	DEL	AAC	AAC	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agtttcccttccgaaataatAacaagtggcagaggaacgcc							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:72152170_72152172delAAC	ENST00000555818.1	+	10	3544_3546	c.3196_3198delAAC	c.(3196-3198)aacdel	p.N1066del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.N1066del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.N541del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.N1066del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1066					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCGAAATAATAACAAGTGGCAGA	0.498																																					p.1065_1066del		Pindel,Atlas-Indel	.											.	SIPA1L1	219	.	0			c.3195_3197del						PASS	.																																			SO:0001651	inframe_deletion	26037	exon10			.	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3196_3198delAAC	14.37:g.72152170_72152172delAAC	ENSP00000450832:p.Asn1066del	Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	94	28	0.298	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	CCDS9807.1																																																																																			.	.	none		0.498	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		-	72152172	AAC	-	72152170	7	5	32	1	0	1	0	1	0	0	0	0	14329	362	13	0	3230	0	SIPA1L1	14	72152170	In_Frame_Del	DEL	AAC	TCGA-GS-A9TW-01A-11D-A382-10	10705895	72152170	35197370	184	22961										
KCNK13	56659	hgsc.bcm.edu	37	chr14	90650648	90650648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gccctgccccaggagagcctGaaggatgcggggcagtgtga	17	11	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:90650648G>A	ENST00000282146.4	+	2	969	c.528G>A	c.(526-528)ctG>ctA	p.L176L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	176					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGGAGAGCCTGAAGGATGCGG	0.617																																					p.L176L		Atlas-SNP	.											.	KCNK13	76	.	0			c.G528A						PASS	.						81	78	79					14																	90650648		2203	4300	6503	SO:0001819	synonymous_variant	56659	exon2			GAGCCTGAAGGAT	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.528G>A	14.37:g.90650648G>A		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	88	26	0.295455	NM_022054	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																			.	.	none		0.617	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		A	90650648	G	A	90650648	2	1	32	1	0	0	0	0	0	0	0	1	8061	1277	45	2		2	KCNK13	14	90650648	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	18498478	90650648	16698892	185	22962										
C14orf68	283600	hgsc.bcm.edu	37	chr14	100795800	100795800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agtcgagactgcaggcagacGggcagggccagaggcgctac	17	11	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr14:100795800G>A	ENST00000361529.3	+	6	823	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	SLC25A47_ENST00000557052.1_Missense_Mutation_p.G103R	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	249					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCAGGCAGACGGGCAGGGCCA	0.657																																					p.G249R	GBM(11;1289 1351)	Atlas-SNP	.											.	SLC25A47	36	.	0			c.G745A						PASS	.						52	55	54					14																	100795800		2203	4300	6503	SO:0001583	missense	283600	exon6			GCAGACGGGCAGG		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.745G>A	14.37:g.100795800G>A	ENSP00000354886:p.Gly249Arg	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	56	12	0.214286	NM_207117	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357420	0.61293	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.78816	-1.21;-1.21	5.39	4.5	0.54988	Mitochondrial carrier domain (2);	0.047683	0.85682	D	0.000000	D	0.85813	0.5784	M	0.63428	1.95	0.52501	D	0.999953	D	0.89917	1.0	D	0.87578	0.998	D	0.87017	0.2126	10	0.72032	D	0.01	-2.6913	14.0535	0.64751	0.0727:0.0:0.9273:0.0	.	249	Q6Q0C1	S2547_HUMAN	R	249;103	ENSP00000354886:G249R;ENSP00000451078:G103R	ENSP00000354886:G249R	G	+	1	0	SLC25A47	99865553	1.000000	0.71417	0.609000	0.28983	0.110000	0.19582	6.251000	0.72441	1.271000	0.44313	0.561000	0.74099	GGG	.	.	none		0.657	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			A	100795800	G	A	100795800	3	1	32	1	0	0	0	0	1	0	0	0	1778	1116	39	1	767	1	C14orf68	14	100795800	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	10145152	100795800	6553740	186	22963										
PGBD4	161779	hgsc.bcm.edu	37	chr15	34396402	34396402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ggatggcaagaagatccggaAagaaacgcgctatttttgtg	13	6	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:34396402A>G	ENST00000397766.2	+	1	2129	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	557										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGATCCGGAAAGAAACGCGC	0.438																																					p.K557R		Atlas-SNP	.											.	PGBD4	58	.	0			c.A1670G						PASS	.						137	115	122					15																	34396402		2201	4298	6499	SO:0001583	missense	161779	exon1			TCCGGAAAGAAAC	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1670A>G	15.37:g.34396402A>G	ENSP00000380872:p.Lys557Arg	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	46	14	0.304348	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	a	0.042	-1.280633	0.01398	.	.	ENSG00000182405	ENST00000397766	T	0.19394	2.15	0.978	-0.492	0.12041	.	0.402218	0.14585	U	0.310592	T	0.06005	0.0156	N	0.11560	0.145	0.09310	N	1	P	0.40398	0.716	B	0.35039	0.194	T	0.24621	-1.0155	10	0.02654	T	1	.	3.1695	0.06548	0.7014:0.0:0.2986:0.0	.	557	Q96DM1	PGBD4_HUMAN	R	557	ENSP00000380872:K557R	ENSP00000380872:K557R	K	+	2	0	PGBD4	32183694	0.982000	0.34865	0.004000	0.12327	0.140000	0.21249	-0.042000	0.12063	-0.140000	0.11394	0.255000	0.18592	AAA	.	.	none		0.438	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			G	34396402	A	G	34396402	3	3	32	1	0	0	0	0	1	0	0	0	11783	14	1	2	1672	2	PGBD4	15	34396402	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10		34396402	68134990	187	22964										
B2M	567	hgsc.bcm.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccttagctgtgctcgcgctaCtctctctttctggcctggag							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614																																					p.12_13del		Atlas-Indel	.											B2M,colon,carcinoma,+1,2	B2M	99	2	6	Deletion - Frameshift(5)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|skin(1)	c.36_37del						PASS	.																																			SO:0001589	frameshift_variant	567	exon1			.	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.37_38delCT	15.37:g.45003787_45003788delCT	ENSP00000452780:p.Leu13fs	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	57	13	0.22807	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																			.	.	none		0.614	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45003782	CT	-	45003781	7	5	32	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-GS-A9TW-01A-11D-A382-10	10607379	45003781	57527611	188	22965										
UACA	55075	hgsc.bcm.edu	37	chr15	70961075	70961076	+	Frame_Shift_Ins	INS	-	-	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tctctttccatttctactaaINStttttttgctttctcattca							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:70961075_70961076insT	ENST00000322954.6	-	16	2132_2133	c.1947_1948insA	c.(1945-1950)aaattafs	p.L650fs	UACA_ENST00000560441.1_Frame_Shift_Ins_p.L635fs|UACA_ENST00000379983.2_Frame_Shift_Ins_p.L637fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.L541fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	650					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTCTACTAATTTTTTTGCTT	0.351																																					p.L650fs		Pindel,Atlas-Indel	.											.	UACA	235	.	0			c.1948_1949insA						PASS	.																																			SO:0001589	frameshift_variant	55075	exon16			.	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1948dupA	15.37:g.70961082_70961082dupT	ENSP00000314556:p.Leu650fs	Somatic	504	.	.		WXS	Illumina HiSeq	Phase_I	424	80	0.189	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Ins	INS	ENST00000322954.6	37	CCDS10235.1																																																																																			.	.	none		0.351	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70961076	-	T	70961075	7	5	32	1	0	1	1	0	0	0	0	0	16821	98	4	0	2318	0	UACA	15	70961075	Frame_Shift_Ins	INS	-	TCGA-GS-A9TW-01A-11D-A382-10	25957294	70961075	31570317	189	22966										
LMAN1L	79748	hgsc.bcm.edu	37	chr15	75108518	75108518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	acgccatcctgggcctggagGaagtgcggctgacgccatcc	14	14	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:75108518G>A	ENST00000309664.5	+	2	335	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	LMAN1L_ENST00000379709.3_Missense_Mutation_p.E66K	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	66	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCTGGAGGAAGTGCGGCT	0.647																																					p.E66K		Atlas-SNP	.											.	LMAN1L	43	.	0			c.G196A						PASS	.						30	26	27					15																	75108518		2147	4214	6361	SO:0001583	missense	79748	exon2			CTGGAGGAAGTGC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.196G>A	15.37:g.75108518G>A	ENSP00000310431:p.Glu66Lys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	31	15	0.483871	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201208	0.79015	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.62639	0.01;0.01	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.073354	0.56097	D	0.000040	T	0.75975	0.3923	L	0.61218	1.895	0.42178	D	0.99167	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75393	-0.3333	10	0.42905	T	0.14	.	14.8695	0.70444	0.0:0.0:1.0:0.0	.	66;66	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	K	66	ENSP00000310431:E66K;ENSP00000369031:E66K	ENSP00000310431:E66K	E	+	1	0	LMAN1L	72895571	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	2.160000	0.42348	2.596000	0.87737	0.484000	0.47621	GAA	.	.	none		0.647	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75108518	G	A	75108518	3	1	32	1	0	0	0	0	1	0	0	0	8837	1175	41	2	202	2	LMAN1L	15	75108518	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	4147443	75108518	27422874	190	22967										
KIAA1024	23251	hgsc.bcm.edu	37	chr15	79749276	79749276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaaggaatatcttcaaagagGattttcacaatttgatggca	8	5	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:79749276G>A	ENST00000305428.3	+	2	862	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	263						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTTCAAAGAGGATTTTCACAA	0.493																																					p.D263N		Atlas-SNP	.											KIAA1024,NS,carcinoma,0,1	KIAA1024	146	1	0			c.G787A						PASS	.						75	85	81					15																	79749276		2196	4293	6489	SO:0001583	missense	23251	exon2			AAAGAGGATTTTC	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.787G>A	15.37:g.79749276G>A	ENSP00000307461:p.Asp263Asn	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	138	18	0.130435	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003181	0.74932	.	.	ENSG00000169330	ENST00000305428	T	0.38240	1.15	5.29	5.29	0.74685	.	0.049295	0.85682	D	0.000000	T	0.53417	0.1795	M	0.71581	2.175	0.58432	D	0.999997	D	0.59767	0.986	P	0.53954	0.738	T	0.54009	-0.8357	9	.	.	.	.	18.9224	0.92530	0.0:0.0:1.0:0.0	.	263	Q9UPX6	K1024_HUMAN	N	263	ENSP00000307461:D263N	.	D	+	1	0	KIAA1024	77536331	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	7.146000	0.77373	2.454000	0.82982	0.591000	0.81541	GAT	.	.	none		0.493	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		A	79749276	G	A	79749276	3	1	32	1	0	0	0	0	1	0	0	0	8205	1174	41	2	789	2	KIAA1024	15	79749276	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	4640758	79749276	22782116	191	22968										
ABHD2	11057	hgsc.bcm.edu	37	chr15	89694933	89694933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttccaccgttgatctgggggAaaagtggacacatccagaca	11	10	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:89694933A>G	ENST00000352732.5	+	4	740	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K74E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K74E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	74					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATCTGGGGGAAAAGTGGACA	0.458																																					p.K74E	Colon(11;252 417 24570 33239 41878)	Atlas-SNP	.											.	ABHD2	55	.	0			c.A220G						PASS	.						147	133	138					15																	89694933		2200	4299	6499	SO:0001583	missense	11057	exon8			TGGGGGAAAAGTG	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.220A>G	15.37:g.89694933A>G	ENSP00000268129:p.Lys74Glu	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	123	46	0.373984	NM_007011	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.288792	0.80914	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.14144	2.53;2.53	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.60455	1.87	0.80722	D	1	P	0.39326	0.668	B	0.42188	0.379	T	0.01670	-1.1299	10	0.25106	T	0.35	-0.2077	16.5655	0.84588	1.0:0.0:0.0:0.0	.	74	P08910	ABHD2_HUMAN	E	74	ENSP00000268129:K74E;ENSP00000347217:K74E	ENSP00000268129:K74E	K	+	1	0	ABHD2	87495937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.937000	0.92936	2.302000	0.77476	0.533000	0.62120	AAA	.	.	none		0.458	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			G	89694933	A	G	89694933	3	3	32	1	0	0	0	0	1	0	0	0	82	247	9	2	226	2	ABHD2	15	89694933	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	9945657	89694933	12836459	192	22969										
NR2F2	7026	hgsc.bcm.edu	37	chr15	96877601	96877615	+	In_Frame_Del	DEL	CTCACCTGGAGCGAG	CTCACCTGGAGCGAG	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	accaggtggccctgcttcgcCtcacctggagcgagctgttt							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	CTCACCTGGAGCGAG	CTCACCTGGAGCGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr15:96877601_96877615delCTCACCTGGAGCGAG	ENST00000394166.3	+	2	2128_2142	c.739_753delCTCACCTGGAGCGAG	c.(739-753)ctcacctggagcgagdel	p.LTWSE247del	NR2F2_ENST00000453270.2_In_Frame_Del_p.LTWSE94del|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_In_Frame_Del_p.LTWSE114del|NR2F2_ENST00000394171.2_In_Frame_Del_p.LTWSE94del	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	247	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGCTTCGCCTCACCTGGAGCGAGCTGTTTGTGT	0.688																																					p.246_251del		Pindel,Atlas-Indel	.											.	NR2F2	35	.	0			c.738_752del						PASS	.																																			SO:0001651	inframe_deletion	7026	exon2			.	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.739_753delCTCACCTGGAGCGAG	15.37:g.96877601_96877615delCTCACCTGGAGCGAG	ENSP00000377721:p.Leu247_Glu251del	Somatic	74	.	.		WXS	Illumina HiSeq	Phase_I	55	11	0.2	NM_021005	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	In_Frame_Del	DEL	ENST00000394166.3	37	CCDS10375.1																																																																																			.	.	none		0.688	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			-	96877615	CTCACCTGGAGCGAG	-	96877601	7	5	32	1	0	1	0	1	0	0	0	0	10628	681	24	0	792	0	NR2F2	15	96877601	In_Frame_Del	DEL	CTCACCTGGAGCGAG	TCGA-GS-A9TW-01A-11D-A382-10	7182668	96877601	5653791	193	22970										
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1268451	1268451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gagtgcacgccgggtggacgCggacaggcctcccttgcccc	15	16	0	0	rs35828403|rs139080716		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:1268451C>T	ENST00000348261.5	+	33	5935	c.5687C>T	c.(5686-5688)gCg>gTg	p.A1896V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1890V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1890V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1896					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGGGTGGACGCGGACAGGCCT	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14672	0.0		0.0	False		,,,				2504	0.0				p.A1896V		Atlas-SNP	.											.	CACNA1H	317	.	0			c.C5687T						PASS	.						28	36	33					16																	1268451		2040	4074	6114	SO:0001583	missense	8912	exon33			TGGACGCGGACAG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5687C>T	16.37:g.1268451C>T	ENSP00000334198:p.Ala1896Val	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	49	20	0.408163	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.801	0.332173	0.10956	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96554	-4.05;-4.0	2.6	-0.801	0.10893	.	3.511550	0.00951	N	0.002976	D	0.89291	0.6673	N	0.22421	0.69	0.09310	N	1	B;B;B;B;P	0.36768	0.002;0.0;0.0;0.087;0.569	B;B;B;B;B	0.21708	0.001;0.001;0.001;0.006;0.036	D	0.83591	0.0123	10	0.49607	T	0.09	.	0.331	0.00318	0.2142:0.3259:0.193:0.2669	.	642;631;637;1890;1896	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	V	1896;1890	ENSP00000334198:A1896V;ENSP00000351401:A1890V	ENSP00000334198:A1896V	A	+	2	0	CACNA1H	1208452	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.123000	0.11745	-0.643000	0.03959	GCG	C|0.999;T|0.001	0.001	strong		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1268451	C	T	1268451	3	4	32	1	0	0	0	0	1	0	0	0	2545	768	27	1	5813	1	CACNA1H	16	1268451	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10		1268451	89086302	194	22971										
ZNF434	54925	hgsc.bcm.edu	37	chr16	3433530	3433530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgggatggggttttctcctcActctcccctggagaatttct	10	11	4	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:3433530A>G	ENST00000396852.4	-	7	1723	c.1416T>C	c.(1414-1416)agT>agC	p.S472S	ZSCAN32_ENST00000304926.3_Silent_p.S260S|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000396846.3_Silent_p.S472S|ZSCAN32_ENST00000439568.2_Silent_p.S183S	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	472					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TTTTCTCCTCACTCTCCCCTG	0.473																																					p.S260S		Atlas-SNP	.											.	.	.	.	0			c.T780C						PASS	.						108	102	104					16																	3433530		2197	4300	6497	SO:0001819	synonymous_variant	54925	exon6			CTCCTCACTCTCC	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1416T>C	16.37:g.3433530A>G		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	124	22	0.177419	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37																																																																																				.	.	none		0.473	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		G	3433530	A	G	3433530	2	3	32	1	0	0	0	0	0	0	0	1	17905	156	6	2		2	ZNF434	16	3433530	Silent	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	2165079	3433530	86921223	195	22972										
TNRC6A	27327	hgsc.bcm.edu	37	chr16	24804956	24804956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagctctgttggtccacaagCattaagcaaatctggtaagt	9	9	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:24804956C>A	ENST00000395799.3	+	7	3467	c.3338C>A	c.(3337-3339)gCa>gAa	p.A1113E	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1113E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1113	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGTCCACAAGCATTAAGCAAA	0.483																																					p.A1113E		Atlas-SNP	.											.	TNRC6A	171	.	0			c.C3338A						PASS	.						76	77	77					16																	24804956		2197	4300	6497	SO:0001583	missense	27327	exon7			CACAAGCATTAAG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3338C>A	16.37:g.24804956C>A	ENSP00000379144:p.Ala1113Glu	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	43	14	0.325581	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099624	0.37048	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.44083	0.93;0.93	6.06	3.07	0.35406	Argonaute hook domain (1);	0.704740	0.14503	N	0.315630	T	0.37598	0.1009	L	0.58810	1.83	0.45076	D	0.998093	B;B	0.27910	0.02;0.193	B;B	0.27608	0.06;0.081	T	0.06409	-1.0828	10	0.27082	T	0.32	0.0162	9.747	0.40453	0.0:0.7572:0.1163:0.1264	.	860;1113	Q8NDV7-2;Q8NDV7	.;TNR6A_HUMAN	E	1113	ENSP00000326900:A1113E;ENSP00000379144:A1113E	ENSP00000326900:A1113E	A	+	2	0	TNRC6A	24712457	0.103000	0.21917	0.092000	0.20876	0.896000	0.52359	0.835000	0.27531	0.444000	0.26612	0.650000	0.86243	GCA	.	.	none		0.483	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24804956	C	A	24804956	3	1	32	1	0	0	0	0	1	0	0	0	16337	710	25	4	3364	4	TNRC6A	16	24804956	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	21371426	24804956	65549797	196	22973										
NFATC2IP	84901	hgsc.bcm.edu	37	chr16	28962525	28962525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttctggaggtcgccaccgctCgcggtgccgcggacgaggtt	16	13	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:28962525C>T	ENST00000320805.4	+	1	268	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	65					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CGCCACCGCTCGCGGTGCCGC	0.687																																					p.R65C		Atlas-SNP	.											.	NFATC2IP	24	.	0			c.C193T						PASS	.						7	6	6					16																	28962525		1747	3277	5024	SO:0001583	missense	84901	exon1			ACCGCTCGCGGTG	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.193C>T	16.37:g.28962525C>T	ENSP00000324792:p.Arg65Cys	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	182	25	0.137363	NM_032815	B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	4.485	0.089866	0.08632	.	.	ENSG00000176953	ENST00000320805	T	0.21031	2.03	2.95	-3.58	0.04597	.	2.704170	0.02280	N	0.069349	T	0.11793	0.0287	N	0.17474	0.49	0.09310	N	0.999995	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.22173	-1.0224	10	0.39692	T	0.17	.	3.5809	0.07952	0.189:0.2928:0.0:0.5182	.	65;65	B7Z8Y9;Q8NCF5	.;NF2IP_HUMAN	C	65	ENSP00000324792:R65C	ENSP00000324792:R65C	R	+	1	0	NFATC2IP	28870026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.829000	0.04415	-0.514000	0.06488	-0.459000	0.05422	CGC	.	.	none		0.687	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		T	28962525	C	T	28962525	3	4	32	1	0	0	0	0	1	0	0	0	10363	884	31	1	195	1	NFATC2IP	16	28962525	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	4157569	28962525	61392228	197	22974										
CX3CL1	6376	hgsc.bcm.edu	37	chr16	57416809	57416809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gccttccttggcctcctcttCtgcctgggggtggccatgtt	12	14	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:57416809C>G	ENST00000006053.6	+	3	1170	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	CX3CL1_ENST00000563383.1_Missense_Mutation_p.F359L|CX3CL1_ENST00000565912.1_Missense_Mutation_p.F315L	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	353					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCTCCTCTTCTGCCTGGGGG	0.672																																					p.F353L		Atlas-SNP	.											.	CX3CL1	27	.	0			c.C1059G						PASS	.						51	55	53					16																	57416809		2198	4300	6498	SO:0001583	missense	6376	exon3			CCTCTTCTGCCTG	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1059C>G	16.37:g.57416809C>G	ENSP00000006053:p.Phe353Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	39	11	0.282051	NM_002996	O00672	Missense_Mutation	SNP	ENST00000006053.6	37	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380265	0.82682	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	4.14	0.48551	.	0.352416	0.20775	N	0.085910	T	0.22475	0.0542	L	0.36672	1.1	0.36879	D	0.889303	D	0.76494	0.999	D	0.78314	0.991	T	0.06534	-1.0821	10	0.87932	D	0	-9.3444	5.7989	0.18401	0.0:0.8319:0.0:0.1681	.	353	P78423	X3CL1_HUMAN	L	353	ENSP00000006053:F353L	ENSP00000006053:F353L	F	+	3	2	CX3CL1	55974310	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.420000	0.21263	2.412000	0.81896	0.558000	0.71614	TTC	.	.	none		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		G	57416809	C	G	57416809	3	3	32	1	0	0	0	0	1	0	0	0	4074	912	32	4	1069	4	CX3CL1	16	57416809	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	28454284	57416809	32937944	198	22975										
BANP	54971	hgsc.bcm.edu	37	chr16	88039846	88039846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cagagcatcgggagcaacgtCacgctcatcaccctgaactc	9	15	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:88039846C>T	ENST00000393207.1	+	6	827	c.606C>T	c.(604-606)gtC>gtT	p.V202V	BANP_ENST00000479780.2_Silent_p.V171V|BANP_ENST00000393208.2_Silent_p.V171V|BANP_ENST00000355022.4_Silent_p.V171V|BANP_ENST00000355163.5_Silent_p.V177V|BANP_ENST00000538234.1_Silent_p.V210V|BANP_ENST00000286122.7_Silent_p.V202V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	202	Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GGAGCAACGTCACGCTCATCA	0.582																																					p.V210V		Atlas-SNP	.											.	BANP	67	.	0			c.C630T						PASS	.						78	78	78					16																	88039846		2198	4300	6498	SO:0001819	synonymous_variant	54971	exon6			CAACGTCACGCTC	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.606C>T	16.37:g.88039846C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	58	15	0.258621	NM_001173542	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																			.	.	none		0.582	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		T	88039846	C	T	88039846	2	4	32	1	0	0	0	0	0	0	0	1	1310	813	29	2		2	BANP	16	88039846	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	30623037	88039846	2314907	199	22976										
CBFA2T3	863	hgsc.bcm.edu	37	chr16	89043112	89043112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtgcggagcagccggcagatGccaggaggccgctctccagc	16	14	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr16:89043112G>A	ENST00000268679.4	-	1	500	c.104C>T	c.(103-105)gCa>gTa	p.A35V	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A35V|CBFA2T3_ENST00000360302.2_5'UTR|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A35V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	35	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCCGGCAGATGCCAGGAGGCC	0.697			T	RUNX1	AML																																p.A35V		Atlas-SNP	.		Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	.	CBFA2T3	47	.	0			c.C104T						PASS	.						16	16	16					16																	89043112		2158	4249	6407	SO:0001583	missense	863	exon1			GCAGATGCCAGGA	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.104C>T	16.37:g.89043112G>A	ENSP00000268679:p.Ala35Val	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	102	38	0.372549	NM_005187	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	1.357	-0.589751	0.03799	.	.	ENSG00000129993	ENST00000268679;ENST00000436887;ENST00000448839	T;T;T	0.45668	0.96;0.89;1.22	2.41	0.253	0.15551	.	10.454500	0.01079	U	0.004953	T	0.20129	0.0484	N	0.08118	0	0.20196	N	0.999927	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23833	-1.0177	10	0.02654	T	1	.	5.1646	0.15079	0.3359:0.0:0.6641:0.0	.	35;35	B2RBQ7;O75081	.;MTG16_HUMAN	V	35	ENSP00000268679:A35V;ENSP00000395739:A35V;ENSP00000401254:A35V	ENSP00000268679:A35V	A	-	2	0	CBFA2T3	87570613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	-0.072000	0.12864	-0.657000	0.03884	GCA	.	.	none		0.697	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		A	89043112	G	A	89043112	3	1	32	1	0	0	0	0	1	0	0	0	2698	1319	46	2	1905	2	CBFA2T3	16	89043112	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1003266	89043112	1311641	200	22977										
GEMIN4	50628	hgsc.bcm.edu	37	chr17	648463	648463	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agactgccacagaggagtttGaccacgtggttccagccttc	11	12	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:648463G>C	ENST00000319004.5	-	2	2938	c.2820C>G	c.(2818-2820)gtC>gtG	p.V940V	GEMIN4_ENST00000576778.1_Silent_p.V929V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	940					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGGAGTTTGACCACGTGGT	0.582																																					p.V940V		Atlas-SNP	.											.	GEMIN4	116	.	0			c.C2820G						PASS	.						16	17	17					17																	648463		1953	4136	6089	SO:0001819	synonymous_variant	50628	exon2			GAGTTTGACCACG	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2820C>G	17.37:g.648463G>C		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	CCDS45559.1																																																																																			.	.	none		0.582	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		C	648463	G	C	648463	2	2	32	1	0	0	0	0	0	0	0	1	6330	1277	45	4		4	GEMIN4	17	648463	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		648463	80546747	201	22978										
METT10D	79066	hgsc.bcm.edu	37	chr17	2371109	2371109	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttgcacatgcaaaagtcataGattatctcagattcttcttt	5	8	4	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:2371109G>C	ENST00000263092.6	-	5	658	c.531C>G	c.(529-531)atC>atG	p.I177M	METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	177							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AAAAGTCATAGATTATCTCAG	0.388																																					p.I177M		Atlas-SNP	.											.	METTL16	75	.	0			c.C531G						PASS	.						119	109	112					17																	2371109		1852	4093	5945	SO:0001583	missense	79066	exon5			GTCATAGATTATC	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.531C>G	17.37:g.2371109G>C	ENSP00000263092:p.Ile177Met	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	176	37	0.210227	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680847	0.29872	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.16897	2.31	5.45	0.758	0.18432	.	0.104656	0.64402	D	0.000004	T	0.08268	0.0206	N	0.10916	0.065	0.80722	D	1	B;B	0.27264	0.003;0.173	B;B	0.32022	0.005;0.139	T	0.26883	-1.0090	10	0.33141	T	0.24	-15.0476	6.5513	0.22436	0.5681:0.0:0.4319:0.0	.	177;177	Q86W50-2;Q86W50	.;MET16_HUMAN	M	177	ENSP00000263092:I177M	ENSP00000263092:I177M	I	-	3	3	METTL16	2317859	0.998000	0.40836	0.999000	0.59377	0.974000	0.67602	0.534000	0.23098	0.281000	0.22233	0.491000	0.48974	ATC	.	.	none		0.388	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		C	2371109	G	C	2371109	3	2	32	1	0	0	0	0	1	0	0	0	9490	932	33	4	1181	4	METT10D	17	2371109	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1722646	2371109	78824101	202	22979										
UBB	7314	hgsc.bcm.edu	37	chr17	16285294	16285294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agcccagtgacaccatcgaaAatgtgaaggccaagatccag	10	11	0	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:16285294A>T	ENST00000395837.1	+	2	254	c.73A>T	c.(73-75)Aat>Tat	p.N25Y	UBB_ENST00000395839.1_Missense_Mutation_p.N25Y|UBB_ENST00000535788.1_Missense_Mutation_p.N25Y|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Missense_Mutation_p.N25Y|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	25	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CACCATCGAAAATGTGAAGGC	0.488																																					p.N25Y	Melanoma(163;1126 3406 34901)	Atlas-SNP	.											.	UBB	30	.	0			c.A73T						PASS	.						91	89	90					17																	16285294		2203	4300	6503	SO:0001583	missense	7314	exon2			ATCGAAAATGTGA		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.73A>T	17.37:g.16285294A>T	ENSP00000379178:p.Asn25Tyr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	93	20	0.215054	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018466	0.54576	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.53938	U	0.000048	D	0.84497	0.5485	M	0.67517	2.055	0.80722	D	1	B	0.33413	0.411	P	0.58331	0.837	D	0.85769	0.1354	10	0.87932	D	0	.	12.5442	0.56190	1.0:0.0:0.0:0.0	.	25	P0CG47	UBB_HUMAN	Y	25	ENSP00000304697:N25Y;ENSP00000437475:N25Y;ENSP00000379180:N25Y;ENSP00000379178:N25Y	ENSP00000304697:N25Y	N	+	1	0	UBB	16226019	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	8.435000	0.90297	1.619000	0.50296	0.524000	0.50904	AAT	.	.	none		0.488	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		T	16285294	A	T	16285294	3	4	32	1	0	0	0	0	1	0	0	0	16838	14	1	5	75	5	UBB	17	16285294	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	13914185	16285294	64909916	203	22980										
PHF12	57649	hgsc.bcm.edu	37	chr17	27248804	27248804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tttttccctgtggtttcctcCtttcttctcctcttgctaga	5	13	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:27248804C>G	ENST00000332830.4	-	5	1548	c.738G>C	c.(736-738)aaG>aaC	p.K246N	PHF12_ENST00000268756.3_Missense_Mutation_p.K246N|PHF12_ENST00000577226.1_Missense_Mutation_p.K246N|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGTTTCCTCCTTTCTTCTCC	0.433																																					p.K246N		Atlas-SNP	.											.	PHF12	69	.	0			c.G738C						PASS	.						225	202	210					17																	27248804		2203	4300	6503	SO:0001583	missense	57649	exon5			TTCCTCCTTTCTT	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.738G>C	17.37:g.27248804C>G	ENSP00000329933:p.Lys246Asn	Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	235	74	0.314894	NM_020889		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114878	0.56505	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.95238	-3.62;-3.65;-3.65	5.3	0.225	0.15325	.	0.094754	0.64402	D	0.000001	D	0.95030	0.8391	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;P;D	0.76494	0.998;0.999;0.998;0.875;0.998	D;D;D;B;D	0.83275	0.991;0.996;0.991;0.357;0.991	D	0.92271	0.5825	10	0.40728	T	0.16	-22.7995	9.6823	0.40078	0.0:0.5558:0.0:0.4442	.	228;246;246;246;246	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	N	246	ENSP00000329933:K246N;ENSP00000368157:K246N;ENSP00000268756:K246N	ENSP00000268756:K246N	K	-	3	2	PHF12	24272930	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.047000	0.30367	0.186000	0.20125	-0.345000	0.07892	AAG	.	.	none		0.433	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		G	27248804	C	G	27248804	3	3	32	1	0	0	0	0	1	0	0	0	11823	680	24	4	2346	4	PHF12	17	27248804	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	10963510	27248804	53946406	204	22981										
DNAJC7	7266	hgsc.bcm.edu	37	chr17	40128785	40128785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaaagaaattccctggaccaGatgctgaaagagaaaagagg	11	6	0	5			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:40128785G>C	ENST00000457167.4	-	14	1687	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	DNAJC7_ENST00000426588.3_Missense_Mutation_p.S428C|CNP_ENST00000393892.3_3'UTR|DNAJC7_ENST00000316603.7_Missense_Mutation_p.S428C	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	484					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CCCTGGACCAGATGCTGAAAG	0.408																																					p.S484C	Colon(63;618 1117 8600 10857 19751)	Atlas-SNP	.											.	DNAJC7	51	.	0			c.C1451G						PASS	.						129	122	124					17																	40128785		1835	4091	5926	SO:0001583	missense	7266	exon14			GGACCAGATGCTG	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1451C>G	17.37:g.40128785G>C	ENSP00000406463:p.Ser484Cys	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	58	21	0.362069	NM_003315	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941364	0.92526	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.73363	-0.74;-0.74;-0.74	5.92	5.92	0.95590	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.985;0.996	P;P	0.56700	0.628;0.804	T	0.78031	-0.2363	10	0.72032	D	0.01	-12.1202	20.3248	0.98698	0.0:0.0:1.0:0.0	.	428;484	Q7Z784;Q99615	.;DNJC7_HUMAN	C	484;428;428	ENSP00000406463:S484C;ENSP00000394327:S428C;ENSP00000313311:S428C	ENSP00000313311:S428C	S	-	2	0	DNAJC7	37382311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.447000	0.97595	2.818000	0.97014	0.655000	0.94253	TCT	.	.	none		0.408	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			C	40128785	G	C	40128785	3	2	32	1	0	0	0	0	1	0	0	0	4654	942	33	4	37	4	DNAJC7	17	40128785	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	12879981	40128785	41066425	205	22982										
TRIM25	7706	hgsc.bcm.edu	37	chr17	54969281	54969281	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cgttattgtgccaggcagagAtcttggtgttgaaccactcc	11	10	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:54969281A>T	ENST00000316881.4	-	9	1722	c.1673T>A	c.(1672-1674)aTc>aAc	p.I558N	TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Missense_Mutation_p.I558N|MIR3614_ENST00000581261.1_RNA|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	558	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CCAGGCAGAGATCTTGGTGTT	0.602																																					p.I558N		Atlas-SNP	.											.	TRIM25	52	.	0			c.T1673A						PASS	.						86	76	79					17																	54969281		2203	4300	6503	SO:0001583	missense	7706	exon9			GCAGAGATCTTGG	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1673T>A	17.37:g.54969281A>T	ENSP00000323889:p.Ile558Asn	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	82	29	0.353659	NM_005082		Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296090	0.81025	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.70399	-0.48;-0.48	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.102449	0.42821	D	0.000652	T	0.77980	0.4212	L	0.48642	1.525	0.38408	D	0.945854	D	0.67145	0.996	D	0.65323	0.934	T	0.80790	-0.1225	10	0.51188	T	0.08	.	14.5814	0.68295	1.0:0.0:0.0:0.0	.	558	Q14258	TRI25_HUMAN	N	558	ENSP00000323889:I558N;ENSP00000445961:I558N	ENSP00000323889:I558N	I	-	2	0	TRIM25	52324280	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.136000	0.77285	1.849000	0.53698	0.418000	0.28097	ATC	.	.	none		0.602	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		T	54969281	A	T	54969281	3	4	32	1	0	0	0	0	1	0	0	0	16496	333	12	5	223	5	TRIM25	17	54969281	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	14840496	54969281	26225929	206	22983										
RNFT1	51136	hgsc.bcm.edu	37	chr17	58034594	58034594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgttacctacttttaatatGaggtagagtaaagccagcag	9	6	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:58034594G>A	ENST00000305783.8	-	6	1051	c.996C>T	c.(994-996)ctC>ctT	p.L332L	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	332						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CTTTTAATATGAGGTAGAGTA	0.358																																					p.L332L		Atlas-SNP	.											RNFT1_ENST00000305783,NS,carcinoma,0,1	RNFT1	30	1	0			c.C996T						PASS	.						93	84	87					17																	58034594		1890	4107	5997	SO:0001819	synonymous_variant	51136	exon6			TAATATGAGGTAG	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"RING-type (C3HC4) zinc fingers"	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.996C>T	17.37:g.58034594G>A		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	142	61	0.429577	NM_016125	Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	CCDS11622.2																																																																																			.	.	none		0.358	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		A	58034594	G	A	58034594	2	1	32	1	0	0	0	0	0	0	0	1	13501	1277	45	2		2	RNFT1	17	58034594	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3065313	58034594	23160616	207	22984										
GRIN2C	2905	hgsc.bcm.edu	37	chr17	72846900	72846900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	taggacgccatgctcccagcGccccacctgtggagggtgac	13	15	0	1	rs539229067	byFrequency	TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr17:72846900G>A	ENST00000293190.5	-	5	1266	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.R374C	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	374					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTCCCAGCGCCCCACCTGT	0.652													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0				p.R374C		Atlas-SNP	.											.	GRIN2C	144	.	0			c.C1120T						PASS	.						41	26	31					17																	72846900		2203	4298	6501	SO:0001583	missense	2905	exon5			CCCAGCGCCCCAC		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1120C>T	17.37:g.72846900G>A	ENSP00000293190:p.Arg374Cys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	58	18	0.310345	NM_000835	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745671	0.30955	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.08634	3.07	4.3	4.3	0.51218	.	0.187992	0.44483	D	0.000450	T	0.15998	0.0385	L	0.48642	1.525	0.43054	D	0.994663	D;D	0.76494	0.989;0.999	P;P	0.55871	0.676;0.786	T	0.00357	-1.1792	10	0.66056	D	0.02	.	11.8257	0.52265	0.0:0.0:0.824:0.1759	.	408;374	Q8IW23;Q14957	.;NMDE3_HUMAN	C	374;408	ENSP00000293190:R374C	ENSP00000293190:R374C	R	-	1	0	GRIN2C	70358495	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.479000	0.60236	2.387000	0.81309	0.555000	0.69702	CGC	.	.	none		0.652	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72846900	G	A	72846900	3	1	32	1	0	0	0	0	1	0	0	0	6781	1087	38	1	2617	1	GRIN2C	17	72846900	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	14812306	72846900	8348310	208	22985										
ENOSF1	55556	hgsc.bcm.edu	37	chr18	697244	697244	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaaataggtcccttacccatCtgagctgcccatcacttgtg	7	13	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr18:697244C>A	ENST00000251101.7	-	3	393	c.305G>T	c.(304-306)aGa>aTa	p.R102I	ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123I|ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102I|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	102					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTTACCCATCTGAGCTGCCC	0.448																																					p.R123I		Atlas-SNP	.											.	ENOSF1	44	.	0			c.G368T						PASS	.						223	228	226					18																	697244		2203	4300	6503	SO:0001583	missense	55556	exon3			ACCCATCTGAGCT	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.305G>T	18.37:g.697244C>A	ENSP00000251101:p.Arg102Ile	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	141	50	0.35461	NM_202758	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947632	0.92593	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.50001	0.76;0.76;0.76	5.43	5.43	0.79202	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.105878	0.64402	D	0.000001	T	0.79046	0.4380	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.99;0.996	D	0.85450	0.1160	10	0.87932	D	0	.	18.1826	0.89783	0.0:1.0:0.0:0.0	.	123;147;102	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	I	102;123;102	ENSP00000251101:R102I;ENSP00000345974:R123I;ENSP00000446321:R102I	ENSP00000251101:R102I	R	-	2	0	ENOSF1	687244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.550000	0.60733	2.595000	0.87683	0.644000	0.83932	AGA	.	.	none		0.448	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	697244	C	A	697244	3	1	32	1	0	0	0	0	1	0	0	0	5125	913	32	4	1082	4	ENOSF1	18	697244	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10		697244	77380004	209	22986										
YES1	7525	hgsc.bcm.edu	37	chr18	743032	743032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctgagcttcttgaaggaaagCttctggcatcattgtacctg	10	9	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr18:743032C>T	ENST00000584307.1	-	8	1116	c.946G>A	c.(946-948)Gct>Act	p.A316T	YES1_ENST00000314574.4_Missense_Mutation_p.A316T|YES1_ENST00000577961.1_Missense_Mutation_p.A321T			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGAAGGAAAGCTTCTGGCATC	0.323																																					p.A316T		Atlas-SNP	.											.	YES1	50	.	0			c.G946A						PASS	.						117	112	114					18																	743032		2203	4299	6502	SO:0001583	missense	7525	exon8			GGAAAGCTTCTGG	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.946G>A	18.37:g.743032C>T	ENSP00000462468:p.Ala316Thr	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	293	25	0.0853242	NM_005433	A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903597	0.92035	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83419	-1.72	5.78	5.78	0.91487	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.45581	1.43	0.80722	D	1	D	0.58268	0.982	P	0.61533	0.89	D	0.88448	0.3047	10	0.72032	D	0.01	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	316	P07947	YES_HUMAN	T	316	ENSP00000324740:A316T	ENSP00000324740:A316T	A	-	1	0	YES1	733032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.638000	0.83328	2.735000	0.93741	0.650000	0.86243	GCT	.	.	none		0.323	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		T	743032	C	T	743032	3	4	32	1	0	0	0	0	1	0	0	0	17471	797	28	2	705	2	YES1	18	743032	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	45788	743032	77334216	210	22987										
CDH2	1000	hgsc.bcm.edu	37	chr18	25563042	25563042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccataccacaaacatcagcaCaaggactaggtagaaaaata	6	10	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr18:25563042C>A	ENST00000269141.3	-	14	2638	c.2215G>T	c.(2215-2217)Gtg>Ttg	p.V739L	CDH2_ENST00000399380.3_Missense_Mutation_p.V708L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	739					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AACATCAGCACAAGGACTAGG	0.313																																					p.V739L		Atlas-SNP	.											.	CDH2	194	.	0			c.G2215T						PASS	.						91	92	92					18																	25563042		2203	4300	6503	SO:0001583	missense	1000	exon14			TCAGCACAAGGAC	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2215G>T	18.37:g.25563042C>A	ENSP00000269141:p.Val739Leu	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	177	20	0.112994	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297604	0.40694	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.58506	0.37;0.33	5.82	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.67700	2.07	0.80722	D	1	B;D	0.89917	0.394;1.0	B;D	0.78314	0.228;0.991	T	0.68903	-0.5286	10	0.12103	T	0.63	.	17.0408	0.86489	0.0:0.8729:0.1271:0.0	.	708;739	A8MWK3;P19022	.;CADH2_HUMAN	L	739;708	ENSP00000269141:V739L;ENSP00000382312:V708L	ENSP00000269141:V739L	V	-	1	0	CDH2	23817040	1.000000	0.71417	0.975000	0.42487	0.958000	0.62258	7.487000	0.81328	1.453000	0.47775	0.655000	0.94253	GTG	.	.	none		0.313	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		A	25563042	C	A	25563042	3	1	32	1	0	0	0	0	1	0	0	0	3105	478	17	4	517	4	CDH2	18	25563042	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	24820010	25563042	52514206	211	22988										
C18orf54	162681	hgsc.bcm.edu	37	chr18	51904570	51904570	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcaccatttatctcgcctgaGagacctggttgatgatacga	10	10	1	4			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr18:51904570G>C	ENST00000300091.5	+	8	1405	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	C18orf54_ENST00000382911.4_Missense_Mutation_p.R519T|C18orf54_ENST00000578138.1_Missense_Mutation_p.R137T|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	358						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TCTCGCCTGAGAGACCTGGTT	0.378																																					p.R358T		Atlas-SNP	.											.	C18orf54	40	.	0			c.G1073C						PASS	.						76	70	72					18																	51904570		2203	4300	6503	SO:0001583	missense	162681	exon8			GCCTGAGAGACCT	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.1073G>C	18.37:g.51904570G>C	ENSP00000300091:p.Arg358Thr	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	172	40	0.232558	NM_173529	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908213	0.33721	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.38077	1.19;1.16	5.55	5.55	0.83447	.	0.064020	0.64402	D	0.000010	T	0.54854	0.1884	M	0.72118	2.19	0.26124	N	0.980503	D;D	0.89917	0.999;1.0	D;D	0.71870	0.973;0.975	T	0.54146	-0.8337	10	0.72032	D	0.01	0.02	8.9048	0.35517	0.1603:0.0:0.8397:0.0	.	519;358	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	T	358;519	ENSP00000300091:R358T;ENSP00000372368:R519T	ENSP00000300091:R358T	R	+	2	0	C18orf54	50158568	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.933000	0.56545	2.755000	0.94549	0.655000	0.94253	AGA	.	.	none		0.378	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		C	51904570	G	C	51904570	3	2	32	1	0	0	0	0	1	0	0	0	1904	942	33	4	1099	4	C18orf54	18	51904570	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	26341528	51904570	26172678	212	22989										
MUM1	84939	hgsc.bcm.edu	37	chr19	1357062	1357062	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agagaagaaaggaatattttCtagctgtgcaaatcctctct	8	7	2	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:1357062C>G	ENST00000415183.3	+	2	141	c.115C>G	c.(115-117)Cta>Gta	p.L39V	MUM1_ENST00000344663.3_Missense_Mutation_p.L39V|MUM1_ENST00000591806.1_Missense_Mutation_p.L39V|MUM1_ENST00000311401.5_5'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	38					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|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)		GGAATATTTTCTAGCTGTGCA	0.358																																					p.L39V		Atlas-SNP	.											MUM1,colon,carcinoma,0,1	MUM1	54	1	0			c.C115G						PASS	.						143	145	144					19																	1357062		2203	4300	6503	SO:0001583	missense	84939	exon3			TATTTTCTAGCTG	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.115C>G	19.37:g.1357062C>G	ENSP00000394925:p.Leu39Val	Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	240	70	0.291667	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	C	14.00	2.404734	0.42613	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.33865	1.39;1.39	5.2	2.95	0.34219	.	0.135832	0.32655	N	0.005814	T	0.52075	0.1712	M	0.75085	2.285	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.80764	0.818;0.994	T	0.52335	-0.8589	10	0.54805	T	0.06	.	5.3523	0.16042	0.2025:0.6961:0.0:0.1014	.	39;38	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	39;65;39	ENSP00000345789:L39V;ENSP00000394925:L39V	ENSP00000345789:L39V	L	+	1	2	MUM1	1308062	0.999000	0.42202	0.971000	0.41717	0.319000	0.28217	1.134000	0.31442	2.581000	0.87130	0.655000	0.94253	CTA	.	.	none		0.358	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		G	1357062	C	G	1357062	3	3	32	1	0	0	0	0	1	0	0	0	9985	912	32	4	121	4	MUM1	19	1357062	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10		1357062	57771921	213	22990										
STAP2	55620	hgsc.bcm.edu	37	chr19	4333777	4333777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccagggaatctcatctgtgaGtttctcaaatgctcccaagt	8	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:4333777G>C	ENST00000594605.1	-	3	334	c.211C>G	c.(211-213)Ctc>Gtc	p.L71V	STAP2_ENST00000600324.1_Missense_Mutation_p.L71V	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	71	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCTGTGAGTTTCTCAAAT	0.567																																					p.L71V		Atlas-SNP	.											.	STAP2	38	.	0			c.C211G						PASS	.						96	88	91					19																	4333777		2203	4300	6503	SO:0001583	missense	55620	exon3			CTGTGAGTTTCTC	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.211C>G	19.37:g.4333777G>C	ENSP00000471052:p.Leu71Val	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	63	15	0.238095	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	G	2.350	-0.349058	0.05208	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.02	1.66	0.24008	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.554688	0.18063	N	0.152891	T	0.39911	0.1096	L	0.58428	1.81	0.22610	N	0.998936	B;B	0.23891	0.093;0.015	B;B	0.23419	0.033;0.046	T	0.39840	-0.9594	9	0.87932	D	0	-2.2117	5.3364	0.15959	0.1854:0.1667:0.6479:0.0	.	71;71	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	V	71	.	ENSP00000317912:L71V	L	-	1	0	STAP2	4284777	0.990000	0.36364	0.204000	0.23530	0.006000	0.05464	1.303000	0.33470	0.170000	0.19704	-0.294000	0.09567	CTC	.	.	none		0.567	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		C	4333777	G	C	4333777	3	2	32	1	0	0	0	0	1	0	0	0	15252	1029	36	4	1182	4	STAP2	19	4333777	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	2976715	4333777	54795206	214	22991										
ZNF266	10781	hgsc.bcm.edu	37	chr19	9524292	9524292	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tttaccacattccaggcactCaaagggcttctctccagtgt	7	13	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:9524292C>G	ENST00000592904.1	-	5	3385	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	ZNF266_ENST00000361451.2_Missense_Mutation_p.E437Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.E437Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.E437Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.E437Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.E437Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.E437Q			Q14584	ZN266_HUMAN	zinc finger protein 266	437					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						TCCAGGCACTCAAAGGGCTTC	0.433																																					p.E437Q		Atlas-SNP	.											.	ZNF266	65	.	0			c.G1309C						PASS	.						65	62	63					19																	9524292		2203	4300	6503	SO:0001583	missense	10781	exon11			GGCACTCAAAGGG	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.1309G>C	19.37:g.9524292C>G	ENSP00000466714:p.Glu437Gln	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	100	34	0.34	NM_001271314	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347587	0.61183	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07444	3.19;3.19	2.53	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	N	0.04335	-0.225	0.09310	N	1	B	0.30634	0.288	B	0.25884	0.064	T	0.39840	-0.9594	9	0.45353	T	0.12	.	1.6977	0.02866	0.1866:0.3032:0.3688:0.1413	.	437	Q14584	ZN266_HUMAN	Q	437	ENSP00000354680:E437Q;ENSP00000355047:E437Q	ENSP00000355047:E437Q	E	-	1	0	ZNF266	9385292	0.000000	0.05858	0.001000	0.08648	0.894000	0.52154	-4.155000	0.00284	-0.243000	0.09653	0.555000	0.69702	GAG	.	.	none		0.433	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			G	9524292	C	G	9524292	3	3	32	1	0	0	0	0	1	0	0	0	17802	835	29	4	344	4	ZNF266	19	9524292	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	5190515	9524292	49604691	215	22992										
ZNF439	90594	hgsc.bcm.edu	37	chr19	11979140	11979140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	taagcaatgtgggaaagcctTcagatctgccccaaatcttc	8	11	3	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:11979140T>C	ENST00000304030.2	+	3	1456	c.1256T>C	c.(1255-1257)tTc>tCc	p.F419S	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.F283S	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGGAAAGCCTTCAGATCTGCC	0.453																																					p.F419S		Atlas-SNP	.											.	ZNF439	67	.	0			c.T1256C						PASS	.						70	66	68					19																	11979140		2203	4300	6503	SO:0001583	missense	90594	exon3			AAGCCTTCAGATC	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1256T>C	19.37:g.11979140T>C	ENSP00000305077:p.Phe419Ser	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	98	20	0.204082	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	t	14.29	2.490541	0.44249	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.44482	0.92;0.92	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63954	0.2555	M	0.88906	2.99	0.33673	D	0.611198	D	0.89917	1.0	D	0.85130	0.997	T	0.70114	-0.4961	9	0.87932	D	0	.	6.7827	0.23654	0.0:0.0:0.0:1.0	.	419	Q8NDP4	ZN439_HUMAN	S	283;419	ENSP00000395632:F283S;ENSP00000305077:F419S	ENSP00000305077:F419S	F	+	2	0	ZNF439	11840140	1.000000	0.71417	0.016000	0.15963	0.049000	0.14656	4.420000	0.59841	0.485000	0.27652	0.163000	0.16589	TTC	.	.	none		0.453	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			C	11979140	T	C	11979140	3	2	32	1	0	0	0	0	1	0	0	0	17908	1783	62	2	1266	2	ZNF439	19	11979140	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	2454848	11979140	47149843	216	22993										
MLL4	9757	hgsc.bcm.edu	37	chr19	36218067	36218067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctttctctaggaaactactgCccgatctgtacacgctgcta	7	13	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:36218067C>T	ENST00000222270.7	+	15	4014	c.4014C>T	c.(4012-4014)tgC>tgT	p.C1338C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.C1338C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1338					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)										GAAACTACTGCCCGATCTGTA	0.527																																					p.C1338C		Atlas-SNP	.											.	MLL4	229	.	0			c.C4014T						PASS	.						41	43	42					19																	36218067		2149	4270	6419	SO:0001819	synonymous_variant	8085	exon15			CTACTGCCCGATC	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.4014C>T	19.37:g.36218067C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	65	17	0.261538	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																			.	.	none		0.527	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36218067	C	T	36218067	2	4	32	1	0	0	0	0	0	0	0	1	9623	747	26	2		2	MLL4	19	36218067	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	24238927	36218067	22910916	217	22994										
NUP62	23636	hgsc.bcm.edu	37	chr19	50412090	50412090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgcgcgtaggtcatggcggaGctggcagccgcccctgcagc	16	14	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:50412090G>A	ENST00000596217.1	-	2	2862	c.975C>T	c.(973-975)agC>agT	p.S325S	NUP62_ENST00000597029.1_Silent_p.S325S|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000422090.2_Silent_p.S325S|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.S325S|NUP62_ENST00000413454.1_Silent_p.S325S|NUP62_ENST00000600583.1_5'Flank			P37198	NUP62_HUMAN	nucleoporin 62kDa	325	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCATGGCGGAGCTGGCAGCCG	0.642																																					p.S325S		Atlas-SNP	.											.	NUP62	50	.	0			c.C975T						PASS	.						33	40	38					19																	50412090		2195	4296	6491	SO:0001819	synonymous_variant	23636	exon3			GGCGGAGCTGGCA	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.975C>T	19.37:g.50412090G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	44	16	0.363636	NM_153719	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	CCDS12788.1																																																																																			.	.	none		0.642	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		A	50412090	G	A	50412090	2	1	32	1	0	0	0	0	0	0	0	1	10768	962	34	2		2	NUP62	19	50412090	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	14194023	50412090	8716893	218	22995										
ZNF160	90338	hgsc.bcm.edu	37	chr19	53573446	53573446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtctttccaacaccactgtgTggaatactgcttctgtactg	8	11	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:53573446T>C	ENST00000429604.1	-	7	756	c.341A>G	c.(340-342)cAc>cGc	p.H114R	ZNF160_ENST00000601421.1_Missense_Mutation_p.H78R|ZNF160_ENST00000599056.1_Missense_Mutation_p.H114R|ZNF160_ENST00000418871.1_Missense_Mutation_p.H114R	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	114					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACCACTGTGTGGAATACTGC	0.393																																					p.H114R		Atlas-SNP	.											.	ZNF160	75	.	0			c.A341G						PASS	.						122	116	118					19																	53573446		2203	4300	6503	SO:0001583	missense	90338	exon7			ACTGTGTGGAATA	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.341A>G	19.37:g.53573446T>C	ENSP00000406201:p.His114Arg	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	181	28	0.154696	NM_001102603	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	T	7.078	0.569697	0.13560	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.06449	3.3;3.3	2.39	1.33	0.21861	.	.	.	.	.	T	0.05181	0.0138	L	0.38175	1.15	0.23758	N	0.996924	B	0.16396	0.017	B	0.14023	0.01	T	0.42032	-0.9475	9	0.30854	T	0.27	.	5.2183	0.15354	0.0:0.1543:0.0:0.8457	.	114	Q9HCG1	ZN160_HUMAN	R	114	ENSP00000406201:H114R;ENSP00000409597:H114R	ENSP00000409597:H114R	H	-	2	0	ZNF160	58265258	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.037000	0.13840	0.166000	0.19597	-0.379000	0.06801	CAC	.	.	none		0.393	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		C	53573446	T	C	53573446	3	2	32	1	0	0	0	0	1	0	0	0	17736	1696	59	2	2119	2	ZNF160	19	53573446	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	3161356	53573446	5555537	219	22996										
ZFP28	140612	hgsc.bcm.edu	37	chr19	57065996	57065996	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttaaggattcatactggggaGaagccttttgaatgtgcgga	13	5	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:57065996G>A	ENST00000301318.3	+	8	1913	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATACTGGGGAGAAGCCTTTTG	0.428																																					p.E614E	Ovarian(124;554 1662 19430 21141 52494)	Atlas-SNP	.											.	ZFP28	99	.	0			c.G1842A						PASS	.						97	108	104					19																	57065996		2203	4300	6503	SO:0001819	synonymous_variant	140612	exon8			TGGGGAGAAGCCT		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1842G>A	19.37:g.57065996G>A		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	137	36	0.262774	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	CCDS12946.1																																																																																			.	.	none		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57065996	G	A	57065996	2	1	32	1	0	0	0	0	0	0	0	1	17639	933	33	2		2	ZFP28	19	57065996	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3492550	57065996	2062987	220	22997										
PEG3	5178	hgsc.bcm.edu	37	chr19	57325865	57325865	+	Frame_Shift_Del	DEL	A	A	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gtaagaaatgaggtgtgagtAtaggaggacccgtactcata							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:57325865delA	ENST00000326441.9	-	10	4308	c.3945delT	c.(3943-3945)tatfs	p.Y1315fs	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.Y1191fs|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.Y1315fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.Y1189fs|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1315					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGTGTGAGTATAGGAGGACC	0.438																																					p.T1316fs		Atlas-Indel	.											.	PEG3	414	.	0			c.3946delA						PASS	.						103	99	101					19																	57325865		2203	4300	6503	SO:0001589	frameshift_variant	5178	exon9			.	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3945delT	19.37:g.57325865delA	ENSP00000326581:p.Tyr1315fs	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	118	23	0.194915	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	CCDS12948.1																																																																																			.	.	none		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			-	57325865	A	-	57325865	7	5	32	1	0	1	0	1	0	0	0	0	11720	456	16	0	825	0	PEG3	19	57325865	Frame_Shift_Del	DEL	A	TCGA-GS-A9TW-01A-11D-A382-10	259869	57325865	1803118	221	22998										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	211	20	0.0947867	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	32	1	0	0	0	0	1	0	0	0	18173	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1059925	58385790	743193	222	22999	469	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	205	21	0.102439	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	32	1	0	0	0	0	1	0	0	0	18173	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	3	58385793	743190	223	23000	469	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						scavenged	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	199	2	0.0100503		WXS	Illumina HiSeq	Phase_I	193	21	0.108808	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	32	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	5	58385798	743185	224	23001	469	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						PASS	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	192	21	0.109375	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	32	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1	58385799	743184	225	23002	469	4								
SLC32A1	140679	hgsc.bcm.edu	37	chr20	37356863	37356863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccgtggtcaacatctttctgGtggccaaggcgctgttgtcc	12	12	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr20:37356863G>A	ENST00000217420.1	+	2	1422	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	387					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CATCTTTCTGGTGGCCAAGGC	0.622																																					p.V387M		Atlas-SNP	.											.	SLC32A1	81	.	0			c.G1159A						PASS	.						79	77	78					20																	37356863		2203	4300	6503	SO:0001583	missense	140679	exon2			TTTCTGGTGGCCA	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1159G>A	20.37:g.37356863G>A	ENSP00000217420:p.Val387Met	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	101	27	0.267327	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402399	0.62288	.	.	ENSG00000101438	ENST00000217420	T	0.02837	4.14	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	M	0.71206	2.165	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.00398	-1.1764	10	0.66056	D	0.02	-20.6777	14.9208	0.70835	0.0:0.0:1.0:0.0	.	387	Q9H598	VIAAT_HUMAN	M	387	ENSP00000217420:V387M	ENSP00000217420:V387M	V	+	1	0	SLC32A1	36790277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.788000	0.99064	2.202000	0.70862	0.563000	0.77884	GTG	.	.	none		0.622	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37356863	G	A	37356863	3	1	32	1	0	0	0	0	1	0	0	0	14565	1261	44	2	1165	2	SLC32A1	20	37356863	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		37356863	25668657	226	23003										
ZNF217	7764	hgsc.bcm.edu	37	chr20	52198236	52198236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagctttgccgcactcggagCagtgagtgggcttctccttg	13	11	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr20:52198236C>T	ENST00000371471.2	-	2	1555	c.1130G>A	c.(1129-1131)tGc>tAc	p.C377Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.C377Y|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	377					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCACTCGGAGCAGTGAGTGGG	0.612																																					p.C377Y		Atlas-SNP	.											.	ZNF217	227	.	0			c.G1130A						PASS	.						96	99	98					20																	52198236		2203	4300	6503	SO:0001583	missense	7764	exon1			TCGGAGCAGTGAG	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1130G>A	20.37:g.52198236C>T	ENSP00000360526:p.Cys377Tyr	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	132	50	0.378788	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689039	0.68271	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.58358	0.34;0.34	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77308	-0.2636	10	0.87932	D	0	-29.0809	19.4277	0.94751	0.0:1.0:0.0:0.0	.	377	O75362	ZN217_HUMAN	Y	377	ENSP00000360526:C377Y;ENSP00000304308:C377Y	ENSP00000304308:C377Y	C	-	2	0	ZNF217	51631643	1.000000	0.71417	0.591000	0.28745	0.413000	0.31143	7.387000	0.79785	2.686000	0.91538	0.591000	0.81541	TGC	.	.	none		0.612	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		T	52198236	C	T	52198236	3	4	32	1	0	0	0	0	1	0	0	0	17769	710	25	2	2032	2	ZNF217	20	52198236	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	14841373	52198236	10827284	227	23004										
LAMA5	3911	hgsc.bcm.edu	37	chr20	60909029	60909029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cacactcatggccccccggtTgacgtatcggaagacgagcc	11	15	1	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr20:60909029T>C	ENST00000252999.3	-	23	2872	c.2806A>G	c.(2806-2808)Aac>Gac	p.N936D	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	936	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCCCCCGGTTGACGTATCGG	0.672																																					p.N936D		Atlas-SNP	.											.	LAMA5	268	.	0			c.A2806G						PASS	.						37	32	34					20																	60909029		2201	4296	6497	SO:0001583	missense	3911	exon23			CCCGGTTGACGTA	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2806A>G	20.37:g.60909029T>C	ENSP00000252999:p.Asn936Asp	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	97	35	0.360825	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.709053	0.48517	.	.	ENSG00000130702	ENST00000252999	T	0.20881	2.04	4.54	4.54	0.55810	.	0.047534	0.85682	U	0.000000	T	0.30854	0.0778	M	0.78456	2.415	0.80722	D	1	P	0.51791	0.948	P	0.46237	0.508	T	0.17623	-1.0363	10	0.66056	D	0.02	.	10.6683	0.45743	0.0:0.0:0.1605:0.8394	.	936	O15230	LAMA5_HUMAN	D	936	ENSP00000252999:N936D	ENSP00000252999:N936D	N	-	1	0	LAMA5	60342424	1.000000	0.71417	0.705000	0.30386	0.132000	0.20833	5.130000	0.64745	1.665000	0.50811	0.444000	0.29173	AAC	.	.	none		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		C	60909029	T	C	60909029	3	2	32	1	0	0	0	0	1	0	0	0	8609	1812	63	2	8513	2	LAMA5	20	60909029	Missense_Mutation	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	8710793	60909029	2116491	228	23005										
NCAM2	4685	hgsc.bcm.edu	37	chr21	22881298	22881299	+	Frame_Shift_Ins	INS	-	-	C													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgtgggttgctgatgtgcatINScactaggagaatgtgtggaa							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr21:22881298_22881299insC	ENST00000400546.1	+	16	2453_2454	c.2204_2205insC	c.(2203-2208)atcactfs	p.T736fs	NCAM2_ENST00000284894.7_Frame_Shift_Ins_p.T594fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	736					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGATGTGCATCACTAGGAGAA	0.465																																					p.I735fs		Atlas-Indel	.											.	NCAM2	220	.	0			c.2204_2205insC						PASS	.																																			SO:0001589	frameshift_variant	4685	exon16			.		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2205dupC	21.37:g.22881299_22881299dupC	ENSP00000383392:p.Thr736fs	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	167	25	0.149701	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Ins	INS	ENST00000400546.1	37	CCDS42910.1																																																																																			.	.	none		0.465	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		C	22881299	-	C	22881298	7	5	32	1	0	1	1	0	0	0	0	0	10203	1435	50	0	2266	0	NCAM2	21	22881298	Frame_Shift_Ins	INS	-	TCGA-GS-A9TW-01A-11D-A382-10		22881298	25248597	229	23006	470	2								
NCAM2	4685	hgsc.bcm.edu	37	chr21	22881305	22881306	+	Frame_Shift_Del	DEL	GA	GA	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttgctgatgtgcatcactagGagaatgtgtggaaagaaaag							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr21:22881305_22881306delGA	ENST00000400546.1	+	16	2460_2461	c.2211_2212delGA	c.(2209-2214)aggagafs	p.RR737fs	NCAM2_ENST00000284894.7_Frame_Shift_Del_p.RR595fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	737					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCATCACTAGGAGAATGTGTGG	0.45																																					p.737_737del		Atlas-Indel	.											NCAM2,NS,carcinoma,+1,1	NCAM2	220	1	0			c.2210_2211del						PASS	.																																			SO:0001589	frameshift_variant	4685	exon16			.		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2211_2212delGA	21.37:g.22881307_22881308delGA	ENSP00000383392:p.Arg737fs	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	159	21	0.132075	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	ENST00000400546.1	37	CCDS42910.1																																																																																			.	.	none		0.45	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		-	22881306	GA	-	22881305	7	5	32	1	0	1	0	1	0	0	0	0	10203	1165	41	0	2273	0	NCAM2	21	22881305	Frame_Shift_Del	DEL	GA	TCGA-GS-A9TW-01A-11D-A382-10	7	22881305	25248590	230	23007	470	2								
TTC3	7267	hgsc.bcm.edu	37	chr21	38520899	38520899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aaaatagaatttcacatgaaTtgctggaagaagttaaaaac	7	4	1	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr21:38520899T>C	ENST00000399017.2	+	23	4817	c.2070T>C	c.(2068-2070)aaT>aaC	p.N690N	TTC3_ENST00000354749.2_Silent_p.N690N|TTC3_ENST00000540756.1_Silent_p.N380N|TTC3_ENST00000355666.1_Silent_p.N690N|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	690					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCACATGAATTGCTGGAAGA	0.299																																					p.N690N	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.T2070C						PASS	.						71	79	77					21																	38520899		2203	4296	6499	SO:0001819	synonymous_variant	7267	exon23			CATGAATTGCTGG	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2070T>C	21.37:g.38520899T>C		Somatic	331	0	0		WXS	Illumina HiSeq	Phase_I	353	89	0.252125	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	CCDS13651.1																																																																																			.	.	none		0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			C	38520899	T	C	38520899	2	2	32	1	0	0	0	0	0	0	0	1	16694	1490	52	2		2	TTC3	21	38520899	Silent	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	15639594	38520899	9608996	231	23008										
DSCAM	1826	hgsc.bcm.edu	37	chr21	41648055	41648055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aggtacatggacttgctgacGtctgcgcccacatcgttgct	11	12	1	1	rs372175757		TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr21:41648055G>A	ENST00000400454.1	-	11	2802	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	775	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTGCTGACGTCTGCGCCCA	0.468																																					p.D775D	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											DSCAM,colon,carcinoma,0,1	DSCAM	347	1	0			c.C2325T						PASS	.	G		0,4152		0,0,2076	95	101	99		2325	4.7	1	21		99	1,8507		0,1,4253	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6329	AA,AG,GG		0.0118,0.0,0.0079		775/2013	41648055	1,12659	2076	4254	6330	SO:0001819	synonymous_variant	1826	exon11			GCTGACGTCTGCG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2325C>T	21.37:g.41648055G>A		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	123	45	0.365854	NM_001271534	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																			.	.	weak		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41648055	G	A	41648055	2	1	32	1	0	0	0	0	0	0	0	1	4768	1136	40	1		1	DSCAM	21	41648055	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	3127156	41648055	6481840	232	23009										
UMODL1	89766	hgsc.bcm.edu	37	chr21	43547122	43547122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcttcctcttgcagggtttaCaccatcatcgaggacctcca	8	14	2	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr21:43547122C>T	ENST00000408910.2	+	19	3300	c.3300C>T	c.(3298-3300)taC>taT	p.Y1100Y	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.Y1156Y|UMODL1_ENST00000400424.2_Silent_p.Y1028Y|UMODL1_ENST00000408989.2_Silent_p.Y1228Y	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1100	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAGGGTTTACACCATCATCG	0.522																																					p.Y1228Y	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Atlas-SNP	.											.	UMODL1	186	.	0			c.C3684T						PASS	.						92	93	93					21																	43547122		1990	4164	6154	SO:0001819	synonymous_variant	89766	exon18			GGTTTACACCATC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3300C>T	21.37:g.43547122C>T		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	106	33	0.311321	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			.	.	none		0.522	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43547122	C	T	43547122	2	4	32	1	0	0	0	0	0	0	0	1	16977	489	17	2		2	UMODL1	21	43547122	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	1899067	43547122	4582773	233	23010										
DGCR2	9993	hgsc.bcm.edu	37	chr22	19029399	19029399	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atgaagagcagcagtgacagGatgaggaaggaggagatgca	17	4	0	5			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:19029399G>A	ENST00000263196.7	-	8	1327	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.I319I	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	360					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCAGTGACAGGATGAGGAAGG	0.627																																					p.I360I		Atlas-SNP	.											.	DGCR2	45	.	0			c.C1080T						PASS	.						90	72	78					22																	19029399		2203	4300	6503	SO:0001819	synonymous_variant	9993	exon8			TGACAGGATGAGG	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1080C>T	22.37:g.19029399G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_005137	A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	CCDS33598.1																																																																																			.	.	none		0.627	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		A	19029399	G	A	19029399	2	1	32	1	0	0	0	0	0	0	0	1	4461	1164	41	2		2	DGCR2	22	19029399	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10		19029399	32275167	234	23011										
SERPIND1	3053	hgsc.bcm.edu	37	chr22	21133944	21133944	+	Frame_Shift_Del	DEL	A	A	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gagtgctgggaacatcctccAgctttttcatggcaagagcc							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:21133944delA	ENST00000215727.5	+	2	627	c.344delA	c.(343-345)cagfs	p.Q115fs	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Del_p.Q115fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	115					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	AACATCCTCCAGCTTTTTCAT	0.502																																					p.Q115fs		Pindel,Atlas-Indel	.											.	SERPIND1	92	.	0			c.343delC						PASS	.						75	67	69					22																	21133944		2203	4300	6503	SO:0001589	frameshift_variant	3053	exon2			.	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.344delA	22.37:g.21133944delA	ENSP00000215727:p.Gln115fs	Somatic	95	.	.		WXS	Illumina HiSeq	Phase_I	114	27	0.237	NM_000185	B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Del	DEL	ENST00000215727.5	37	CCDS13783.1																																																																																			.	.	none		0.502	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		-	21133944	A	-	21133944	7	5	32	1	0	1	0	1	0	0	0	0	14110	188	7	0	346	0	SERPIND1	22	21133944	Frame_Shift_Del	DEL	A	TCGA-GS-A9TW-01A-11D-A382-10	2104545	21133944	30170622	235	23012										
CHEK2	11200	hgsc.bcm.edu	37	chr22	29130412	29130412	+	Nonsense_Mutation	SNP	G	G	A													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagattggcaaatccatcctGaagggcccataatcgagccc							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:29130412G>A	ENST00000405598.1	-	3	489	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	CHEK2_ENST00000404276.1_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000382566.1_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000382565.1_Nonsense_Mutation_p.Q100*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.Q100*			O96017	CHK2_HUMAN	checkpoint kinase 2	100					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AATCCATCCTGAAGGGCCCAT	0.473			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.Q100X		Atlas-SNP	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2	438	.	0			c.C298T						PASS	.						42	47	45					22																	29130412		2203	4300	6503	SO:0001587	stop_gained	11200	exon2			CATCCTGAAGGGC	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.298C>T	22.37:g.29130412G>A	ENSP00000386087:p.Gln100*	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	78	20	0.25641	NM_145862	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126742	0.94429	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	.	.	.	5.42	4.35	0.52113	.	0.399138	0.30356	N	0.009817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7639	14.3897	0.66970	0.0:0.2582:0.7418:0.0	.	.	.	.	X	100;100;100;100;100;100;100;100;100;100;100;100;110	.	ENSP00000329178:Q100X	Q	-	1	0	CHEK2	27460412	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.141000	0.50593	2.704000	0.92352	0.655000	0.94253	CAG	.	.	none		0.473	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		A	29130412	G	A	29130412	4	1	32	1	0	0	0	0	0	1	0	0	3335	1299	45	2	1522	2	CHEK2	22	29130412	Nonsense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	7996468	29130412	22174154	236	23013	471	2								
CHEK2	11200	hgsc.bcm.edu	37	chr22	29130418	29130419	+	Frame_Shift_Ins	INS	-	-	AT													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gcaaatccatcctgaagggcINSccataatcgagcccaggggg							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:29130418_29130419insAT	ENST00000405598.1	-	3	482_483	c.291_292insAT	c.(289-294)tgggccfs	p.A98fs	CHEK2_ENST00000404276.1_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000382566.1_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000348295.3_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000403642.1_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000382578.1_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000544772.1_De_novo_Start_OutOfFrame|CHEK2_ENST00000328354.6_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000382580.2_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000382565.1_Frame_Shift_Ins_p.A98fs|CHEK2_ENST00000402731.1_Frame_Shift_Ins_p.A98fs			O96017	CHK2_HUMAN	checkpoint kinase 2	98					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TCCTGAAGGGCCCATAATCGAG	0.47			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.A98fs		Pindel,Atlas-Indel	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2	438	.	0			c.292_293insAT						PASS	.																																			SO:0001589	frameshift_variant	11200	exon2			.	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.291_292insAT	22.37:g.29130418_29130419insAT	ENSP00000386087:p.Ala98fs	Somatic	71	.	.		WXS	Illumina HiSeq	Phase_I	84	15	0.179	NM_007194	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Ins	INS	ENST00000405598.1	37	CCDS13843.1																																																																																			.	.	none		0.47	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		AT	29130419	-	AT	29130418	7	5	32	1	0	1	1	0	0	0	0	0	3335	739	26	0	1528	0	CHEK2	22	29130418	Frame_Shift_Ins	INS	-	TCGA-GS-A9TW-01A-11D-A382-10	6	29130418	22174148	237	23014	471	2								
FOXRED2	80020	hgsc.bcm.edu	37	chr22	36886232	36886232	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgccaaaggctctcggtactCacgagtccctgcatcctcag	9	15	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:36886232C>G	ENST00000397224.4	-	9	1971	c.1878G>C	c.(1876-1878)gtG>gtC	p.V626V	FOXRED2_ENST00000216187.6_Silent_p.V626V|FOXRED2_ENST00000366463.3_Silent_p.V178V|FOXRED2_ENST00000397223.4_Silent_p.V626V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	626					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTCGGTACTCACGAGTCCCT	0.612																																					p.V626V		Atlas-SNP	.											FOXRED2,right_upper_lobe,carcinoma,0,1	FOXRED2	48	1	0			c.G1878C						PASS	.						99	101	100					22																	36886232		2203	4300	6503	SO:0001819	synonymous_variant	80020	exon9			GGTACTCACGAGT	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1878G>C	22.37:g.36886232C>G		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	49	14	0.285714	NM_001102371	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	CCDS13929.1																																																																																			.	.	none		0.612	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		G	36886232	C	G	36886232	2	3	32	1	0	0	0	0	0	0	0	1	6034	813	29	4		4	FOXRED2	22	36886232	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	7755814	36886232	14418334	238	23015										
TMPRSS6	164656	hgsc.bcm.edu	37	chr22	37485626	37485626	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccagggactcacgaggtgatGagcctcttctccaggggccc	13	14	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:37485626G>A	ENST00000346753.3	-	7	971	c.855C>T	c.(853-855)ctC>ctT	p.L285L	TMPRSS6_ENST00000442782.2_Silent_p.L285L|TMPRSS6_ENST00000406725.1_Silent_p.L276L|TMPRSS6_ENST00000406856.1_Silent_p.L276L|TMPRSS6_ENST00000381792.2_Silent_p.L276L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	285	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACGAGGTGATGAGCCTCTTCT	0.602																																					p.L285L		Atlas-SNP	.											.	TMPRSS6	99	.	0			c.C855T						PASS	.						21	20	21					22																	37485626		2201	4298	6499	SO:0001819	synonymous_variant	164656	exon7			GGTGATGAGCCTC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.855C>T	22.37:g.37485626G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	87	27	0.310345	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			.	.	none		0.602	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		A	37485626	G	A	37485626	2	1	32	1	0	0	0	0	0	0	0	1	16248	1277	45	2		2	TMPRSS6	22	37485626	Silent	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	599394	37485626	13818940	239	23016										
EIF3L	51386	hgsc.bcm.edu	37	chr22	38270414	38270414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctggggagtatgggcggcaCtccctctacaaaatgcttgg	14	10	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:38270414C>A	ENST00000412331.2	+	9	1371	c.789C>A	c.(787-789)caC>caA	p.H263Q	EIF3L_ENST00000381683.6_Missense_Mutation_p.H215Q|EIF3L_ENST00000406934.1_Missense_Mutation_p.H165Q	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGGGCGGCACTCCCTCTACA	0.552																																					p.H263Q		Atlas-SNP	.											.	EIF3L	35	.	0			c.C789A						PASS	.						216	170	186					22																	38270414		2203	4300	6503	SO:0001583	missense	51386	exon9			GCGGCACTCCCTC	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.789C>A	22.37:g.38270414C>A	ENSP00000416892:p.His263Gln	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	161	49	0.304348	NM_016091		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406613	0.62399	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.40476	1.03;1.03;1.03	5.57	4.54	0.55810	.	0.099918	0.64402	D	0.000001	T	0.58424	0.2121	M	0.78049	2.395	0.58432	D	0.999997	P;P;D;D	0.58620	0.539;0.748;0.966;0.983	P;P;P;D	0.63877	0.486;0.588;0.859;0.919	T	0.58493	-0.7627	10	0.14252	T	0.57	-33.9179	11.9022	0.52690	0.0:0.8588:0.0:0.1412	.	215;165;263;306	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	Q	263;306;215;230;165	ENSP00000416892:H263Q;ENSP00000371099:H215Q;ENSP00000384634:H165Q	ENSP00000262832:H230Q	H	+	3	2	EIF3L	36600360	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.779000	0.38624	1.368000	0.46115	0.573000	0.79308	CAC	.	.	none		0.552	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		A	38270414	C	A	38270414	3	1	32	1	0	0	0	0	1	0	0	0	5022	564	20	4	823	4	EIF3L	22	38270414	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	784788	38270414	13034152	240	23017										
PNPLA5	150379	hgsc.bcm.edu	37	chr22	44280171	44280171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcagcacctgtccaggccccGagtgccagaagcgggcccac	12	17	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chr22:44280171G>A	ENST00000597664.1	-	7	1133	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PNPLA5_ENST00000216177.4_Missense_Mutation_p.S335L|PNPLA5_ENST00000593866.1_Missense_Mutation_p.S221L|PNPLA5_ENST00000381198.2_Missense_Mutation_p.S221L			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	335					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.S335L(1)		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)				TCCAGGCCCCGAGTGCCAGAA	0.627											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S335L		Atlas-SNP	.											PNPLA5,NS,carcinoma,0,1	PNPLA5	46	1	1	Substitution - Missense(1)	endometrium(1)	c.C1004T						PASS	.						90	90	90					22																	44280171		2203	4300	6503	SO:0001583	missense	150379	exon7			GGCCCCGAGTGCC	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.1004C>T	22.37:g.44280171G>A	ENSP00000471069:p.Ser335Leu	Somatic	78	0	0	922	WXS	Illumina HiSeq	Phase_I	52	17	0.326923	NM_138814	B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37		.	.	.	.	.	.	.	.	.	.	G	4.655	0.121721	0.08931	.	.	ENSG00000100341	ENST00000216177;ENST00000381198;ENST00000438734	T;T;T	0.39056	1.56;1.1;1.94	3.9	1.76	0.24704	.	0.316936	0.21366	N	0.075714	T	0.38825	0.1055	L	0.31926	0.97	0.09310	N	1	D;D;D	0.76494	0.996;0.999;0.998	P;D;P	0.64687	0.823;0.928;0.688	T	0.31888	-0.9927	10	0.02654	T	1	-4.6125	6.2816	0.21011	0.2326:0.0:0.7674:0.0	.	243;221;335	E9PGS4;Q7Z6Z6-2;Q7Z6Z6	.;.;PLPL5_HUMAN	L	335;221;243	ENSP00000216177:S335L;ENSP00000370595:S221L;ENSP00000405732:S243L	ENSP00000216177:S335L	S	-	2	0	PNPLA5	42611504	0.075000	0.21258	0.001000	0.08648	0.010000	0.07245	1.941000	0.40233	0.427000	0.26145	0.313000	0.20887	TCG	.	.	none		0.627	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		A	44280171	G	A	44280171	3	1	32	1	0	0	0	0	1	0	0	0	12168	1059	37	1	297	1	PNPLA5	22	44280171	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	6009757	44280171	7024395	241	23018										
P2RY8	286530	hgsc.bcm.edu	37	chrX	1584685	1584685	+	Missense_Mutation	SNP	A	A	G													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcacgatgtgcgccaggagcAcgaagttgttgggggcgaag							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:1584685A>G	ENST00000381297.4	-	2	977	c.767T>C	c.(766-768)gTg>gCg	p.V256A	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCCAGGAGCACGAAGTTGTT	0.647			T	CRLF2	"B-ALL, Downs associated ALL"																																p.V256A		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.T767C						PASS	.						72	69	70					X																	1584685		2203	4296	6499	SO:0001583	missense	286530	exon2			AGGAGCACGAAGT	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.767T>C	X.37:g.1584685A>G	ENSP00000370697:p.Val256Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	61	28	0.459016	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	15.47	2.841842	0.51057	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.235347	0.27618	U	0.018564	T	0.61615	0.2361	L	0.38175	1.15	0.09310	N	1	P	0.44090	0.826	B	0.44315	0.446	T	0.52540	-0.8562	10	0.33141	T	0.24	.	10.658	0.45686	1.0:0.0:0.0:0.0	.	256	Q86VZ1	P2RY8_HUMAN	A	256	ENSP00000370697:V256A	ENSP00000370697:V256A	V	-	2	0	P2RY8	1544685	1.000000	0.71417	0.981000	0.43875	0.668000	0.39293	5.411000	0.66386	0.823000	0.34589	0.230000	0.17803	GTG	.	.	none		0.647	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		G	1584685	A	G	1584685	3	3	32	1	0	0	0	0	1	0	0	0	11355	159	6	2	316	2	P2RY8	23	1584685	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10		1584685	153685875	242	23019	472	2								
P2RY8	286530	hgsc.bcm.edu	37	chrX	1584688	1584688	+	Missense_Mutation	SNP	A	A	G													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cgatgtgcgccaggagcacgAagttgttgggggcgaagcag							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:1584688A>G	ENST00000381297.4	-	2	974	c.764T>C	c.(763-765)tTc>tCc	p.F255S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGAGCACGAAGTTGTTGGG	0.652			T	CRLF2	"B-ALL, Downs associated ALL"																																p.F255S		Atlas-SNP	.		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	P2RY8	53	.	0			c.T764C						PASS	.						68	65	66					X																	1584688		2203	4296	6499	SO:0001583	missense	286530	exon2			AGCACGAAGTTGT	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.764T>C	X.37:g.1584688A>G	ENSP00000370697:p.Phe255Ser	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	54	26	0.481481	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	15.15	2.746727	0.49257	.	.	ENSG00000182162	ENST00000381297	T	0.71698	-0.59	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.072053	0.49916	U	0.000127	T	0.63861	0.2547	N	0.20766	0.605	0.09310	N	1	D	0.53312	0.959	P	0.52343	0.696	T	0.58239	-0.7671	10	0.72032	D	0.01	.	10.658	0.45686	1.0:0.0:0.0:0.0	.	255	Q86VZ1	P2RY8_HUMAN	S	255	ENSP00000370697:F255S	ENSP00000370697:F255S	F	-	2	0	P2RY8	1544688	1.000000	0.71417	0.986000	0.45419	0.716000	0.41182	4.106000	0.57804	0.823000	0.34589	0.230000	0.17803	TTC	.	.	none		0.652	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		G	1584688	A	G	1584688	3	3	32	1	0	0	0	0	1	0	0	0	11355	246	9	2	319	2	P2RY8	23	1584688	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	3	1584688	153685872	243	23020	472	2								
SFRS17A	8227	hgsc.bcm.edu	37	chrX	1712439	1712439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttgtacctgaagcccatcacCaagatgaccatcagcgtggc	9	13	2	3			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:1712439C>T	ENST00000313871.3	+	2	280	c.84C>T	c.(82-84)acC>acT	p.T28T	AKAP17A_ENST00000381261.3_Silent_p.T28T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	28					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGCCCATCACCAAGATGACCA	0.617																																					p.T28T		Atlas-SNP	.											.	AKAP17A	46	.	0			c.C84T						PASS	.						129	113	118					X																	1712439		2203	4296	6499	SO:0001819	synonymous_variant	8227	exon2			CATCACCAAGATG	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.84C>T	X.37:g.1712439C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	144	37	0.256944	NM_005088	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	CCDS14116.1																																																																																			.	.	none		0.617	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		T	1712439	C	T	1712439	2	4	32	1	0	0	0	0	0	0	0	1	14173	581	21	2		2	SFRS17A	23	1712439	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	127751	1712439	153558121	244	23021										
FAM9A	171482	hgsc.bcm.edu	37	chrX	8763298	8763298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctcctcttcgtcttctactaCtattacttctgctgctgctg	5	14	4	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:8763298C>G	ENST00000543214.1	-	7	787	c.652G>C	c.(652-654)Gta>Cta	p.V218L	FAM9A_ENST00000381003.3_Missense_Mutation_p.V218L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	218	Glu-rich.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttctACTACTATTACTTct	0.517																																					p.V218L		Atlas-SNP	.											.	FAM9A	57	.	0			c.G652C						PASS	.						21	19	20					X																	8763298		2191	4281	6472	SO:0001583	missense	171482	exon7			CTACTACTATTAC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.652G>C	X.37:g.8763298C>G	ENSP00000440163:p.Val218Leu	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	30	0.4	NM_174951	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	1.212	-0.629328	0.03610	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.392	-0.652	0.11450	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.26845	0.161	B	0.23852	0.049	T	0.18366	-1.0339	7	0.36615	T	0.2	.	.	.	.	.	218	Q8IZU1	FAM9A_HUMAN	L	218	.	ENSP00000370391:V218L	V	-	1	0	FAM9A	8723298	0.001000	0.12720	0.012000	0.15200	0.011000	0.07611	-0.729000	0.04920	-0.488000	0.06726	-0.481000	0.04817	GTA	.	.	none		0.517	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		G	8763298	C	G	8763298	3	3	32	1	0	0	0	0	1	0	0	0	5659	565	20	4	358	4	FAM9A	23	8763298	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	7050859	8763298	146507262	245	23022										
TMSB4X	7114	hgsc.bcm.edu	37	chrX	12994405	12994410	+	In_Frame_Del	DEL	GAGATC	GAGATC	-													0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctgacaaacccgatatggctGagatcgagaaattcgataag							TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	GAGATC	GAGATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:12994405_12994410delGAGATC	ENST00000380635.1	+	2	241_246	c.25_30delGAGATC	c.(25-30)gagatcdel	p.EI9del	TMSB4X_ENST00000380633.1_In_Frame_Del_p.EI9del|TMSB4X_ENST00000380636.1_In_Frame_Del_p.EI9del|TMSB4X_ENST00000451311.2_In_Frame_Del_p.EI9del			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	9					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						CGATATGGCTGAGATCGAGAAATTCG	0.529																																					p.8_10del		Atlas-Indel	.											.	TMSB4X	3	.	0			c.24_29del						PASS	.																																			SO:0001651	inframe_deletion	7114	exon2			.		CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.25_30delGAGATC	X.37:g.12994405_12994410delGAGATC	ENSP00000370009:p.Glu9_Ile10del	Somatic	400	0	0		WXS	Illumina HiSeq	Phase_I	312	41	0.13141	NM_021109	P01253|P01254|Q546P5|Q63576|Q9UE55	In_Frame_Del	DEL	ENST00000380635.1	37	CCDS35202.1																																																																																			.	.	none		0.529	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055779.1	NM_021109		-	12994410	GAGATC	-	12994405	7	5	32	1	0	1	0	1	0	0	0	0	16254	1291	45	0	27	0	TMSB4X	23	12994405	In_Frame_Del	DEL	GAGATC	TCGA-GS-A9TW-01A-11D-A382-10	4231107	12994405	142276155	246	23023										
RAB9A	9367	hgsc.bcm.edu	37	chrX	13727323	13727323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	cgactatccttattttgaaaCaagtgcaaaagatgccacaa	6	9	0	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:13727323C>T	ENST00000464506.1	+	3	737	c.458C>T	c.(457-459)aCa>aTa	p.T153I	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	153					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TATTTTGAAACAAGTGCAAAA	0.473																																					p.T153I		Atlas-SNP	.											.	RAB9A	17	.	0			c.C458T						PASS	.						93	94	93					X																	13727323		2203	4300	6503	SO:0001583	missense	9367	exon3			TTGAAACAAGTGC	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.458C>T	X.37:g.13727323C>T	ENSP00000420127:p.Thr153Ile	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	145	22	0.151724	NM_004251	A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398162	0.83120	.	.	ENSG00000123595	ENST00000464506	T	0.80653	-1.4	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91021	0.4857	9	.	.	.	-12.6253	18.4388	0.90656	0.0:1.0:0.0:0.0	.	153	P51151	RAB9A_HUMAN	I	153	ENSP00000420127:T153I	.	T	+	2	0	RAB9A	13637244	1.000000	0.71417	0.987000	0.45799	0.901000	0.52897	7.618000	0.83043	2.296000	0.77279	0.594000	0.82650	ACA	.	.	none		0.473	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		T	13727323	C	T	13727323	3	4	32	1	0	0	0	0	1	0	0	0	12958	478	17	2	460	2	RAB9A	23	13727323	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	732918	13727323	141543237	247	23024										
FAM120C	54954	hgsc.bcm.edu	37	chrX	54209068	54209068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tgcgctgtctgccgctcggcCtggcaccgacggccccactc	12	19	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:54209068C>T	ENST00000375180.2	-	1	620	c.564G>A	c.(562-564)caG>caA	p.Q188Q	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Silent_p.Q188Q|FAM120C_ENST00000477084.1_Silent_p.Q188Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	188							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCGCTCGGCCTGGCACCGAC	0.711																																					p.Q188Q		Atlas-SNP	.											.	FAM120C	89	.	0			c.G564A						PASS	.						21	16	18					X																	54209068		2171	4260	6431	SO:0001819	synonymous_variant	54954	exon1			CTCGGCCTGGCAC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.564G>A	X.37:g.54209068C>T		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	74	27	0.364865	NM_017848	B2RMT7	Silent	SNP	ENST00000375180.2	37	CCDS14356.1																																																																																			.	.	none		0.711	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		T	54209068	C	T	54209068	2	4	32	1	0	0	0	0	0	0	0	1	5418	680	24	2		2	FAM120C	23	54209068	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	40481745	54209068	101061492	248	23025										
AR	367	hgsc.bcm.edu	37	chrX	66937418	66937418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	gctggcgatccttcaccaatGtcaactccaggatgctctac	8	14	3	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:66937418G>C	ENST00000374690.3	+	5	2796	c.2272G>C	c.(2272-2274)Gtc>Ctc	p.V758L	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Missense_Mutation_p.V226L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	757	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		N -> T (in PAIS; 50% reduction in transactivation). {ECO:0000269|PubMed:9607727}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTTCACCAATGTCAACTCCAG	0.537									Androgen Insensitivity Syndrome																												p.V758L		Atlas-SNP	.											.	AR	249	.	0			c.G2272C						PASS	.						141	99	113					X																	66937418		2203	4300	6503	SO:0001583	missense	367	exon5	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	ACCAATGTCAACT	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2272G>C	X.37:g.66937418G>C	ENSP00000363822:p.Val758Leu	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	109	15	0.137615	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	16.67	3.187222	0.57909	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.96136	-3.92;-3.92	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.060824	0.64402	D	0.000003	D	0.95072	0.8404	M	0.63428	1.95	0.80722	D	1	B;D	0.54207	0.005;0.965	B;P	0.47673	0.02;0.554	D	0.95438	0.8523	10	0.72032	D	0.01	.	14.7147	0.69259	0.0:0.0:1.0:0.0	.	226;757	F1D8N5;P10275	.;ANDR_HUMAN	L	568;758;226	ENSP00000363822:V758L;ENSP00000379358:V226L	ENSP00000363822:V758L	V	+	1	0	AR	66854143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.449000	0.73473	2.351000	0.79841	0.597000	0.82753	GTC	.	.	none		0.537	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		C	66937418	G	C	66937418	3	2	32	1	0	0	0	0	1	0	0	0	836	1377	48	4	2314	4	AR	23	66937418	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	12728350	66937418	88333142	249	23026										
EDA	1896	hgsc.bcm.edu	37	chrX	69253328	69253328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	agctacatccccgcagcgggGagctggaggtactggtggac	16	11	0	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:69253328G>C	ENST00000374552.4	+	7	1116	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	EDA_ENST00000374553.2_Missense_Mutation_p.E292Q|EDA_ENST00000524573.1_Missense_Mutation_p.E289Q	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	292					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E292K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCGCAGCGGGGAGCTGGAGGT	0.502											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E292Q		Atlas-SNP	.											.	EDA	61	.	2	Substitution - Missense(2)	endometrium(2)	c.G874C						PASS	.						121	98	106					X																	69253328		2203	4300	6503	SO:0001583	missense	1896	exon7			AGCGGGGAGCTGG	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.874G>C	X.37:g.69253328G>C	ENSP00000363680:p.Glu292Gln	Somatic	139	0	0	1113	WXS	Illumina HiSeq	Phase_I	74	21	0.283784	NM_001399	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462303	0.63513	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.94931	-3.56;-3.56;-3.56	5.48	5.48	0.80851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.062571	0.64402	D	0.000007	D	0.91798	0.7405	N	0.17723	0.515	0.80722	D	1	P;P;P	0.37466	0.541;0.596;0.541	B;B;B	0.43331	0.292;0.416;0.292	D	0.92537	0.6038	10	0.59425	D	0.04	-14.3379	17.2271	0.86973	0.0:0.0:1.0:0.0	.	289;292;292	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	Q	292;292;289	ENSP00000363680:E292Q;ENSP00000363681:E292Q;ENSP00000432585:E289Q	ENSP00000363680:E292Q	E	+	1	0	EDA	69170053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.062000	0.71155	2.279000	0.76181	0.600000	0.82982	GAG	.	.	none		0.502	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		C	69253328	G	C	69253328	3	2	32	1	0	0	0	0	1	0	0	0	4903	1175	41	4	1036	4	EDA	23	69253328	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	2315910	69253328	86017232	250	23027										
ERCC6L	54821	hgsc.bcm.edu	37	chrX	71426262	71426262	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	atactggagagatcttgtttCtcaccctctttgggcagatc	9	10	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:71426262C>T	ENST00000334463.3	-	2	2490	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	ERCC6L_ENST00000373657.1_Silent_p.E662E|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	785					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GATCTTGTTTCTCACCCTCTT	0.423																																					p.E785E		Atlas-SNP	.											.	ERCC6L	98	.	0			c.G2355A						PASS	.						128	118	121					X																	71426262		2203	4299	6502	SO:0001819	synonymous_variant	54821	exon2			TTGTTTCTCACCC	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2355G>A	X.37:g.71426262C>T		Somatic	273	0	0		WXS	Illumina HiSeq	Phase_I	225	64	0.284444	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																			.	.	none		0.423	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71426262	C	T	71426262	2	4	32	1	0	0	0	0	0	0	0	1	5218	912	32	2		2	ERCC6L	23	71426262	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	2172934	71426262	83844298	251	23028										
POU3F4	5456	hgsc.bcm.edu	37	chrX	82764220	82764220	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aagggcgtactggagacgcaTttcctcaagtgtcccaagcc	11	12	1	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:82764220T>C	ENST00000373200.2	+	1	952	c.888T>C	c.(886-888)caT>caC	p.H296H	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	296					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGGAGACGCATTTCCTCAAGT	0.592																																					p.H296H		Atlas-SNP	.											.	POU3F4	136	.	0			c.T888C						PASS	.						47	35	39					X																	82764220		2203	4300	6503	SO:0001819	synonymous_variant	5456	exon1			GACGCATTTCCTC	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.888T>C	X.37:g.82764220T>C		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	113	19	0.168142	NM_000307	B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	CCDS14450.1																																																																																			.	.	none		0.592	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		C	82764220	T	C	82764220	2	2	32	1	0	0	0	0	0	0	0	1	12277	1490	52	2		2	POU3F4	23	82764220	Silent	SNP	T	TCGA-GS-A9TW-01A-11D-A382-10	11337958	82764220	72506340	252	23029										
PCDH11X	27328	hgsc.bcm.edu	37	chrX	91134203	91134203	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	tcctcaagcagttcagatccCtacagcgtttctgactgtgg	9	12	3	2			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:91134203C>A	ENST00000373094.1	+	2	3809	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	PCDH11X_ENST00000361724.1_Silent_p.P988P|PCDH11X_ENST00000298274.8_Silent_p.P988P|PCDH11X_ENST00000361655.2_Silent_p.P988P|PCDH11X_ENST00000395337.2_Silent_p.P988P|PCDH11X_ENST00000373097.1_Silent_p.P988P|PCDH11X_ENST00000406881.1_Silent_p.P988P|PCDH11X_ENST00000373088.1_Silent_p.P988P|PCDH11X_ENST00000504220.2_Silent_p.P988P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTTCAGATCCCTACAGCGTTT	0.493																																					p.P988P	NSCLC(38;925 1092 2571 38200 45895)	Atlas-SNP	.											.	PCDH11X	714	.	0			c.C2964A						PASS	.						238	182	201					X																	91134203		2203	4300	6503	SO:0001819	synonymous_variant	27328	exon2			AGATCCCTACAGC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2964C>A	X.37:g.91134203C>A		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	175	27	0.154286	NM_001168363	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			.	.	none		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91134203	C	A	91134203	2	1	32	1	0	0	0	0	0	0	0	1	11508	668	24	4		4	PCDH11X	23	91134203	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	8369983	91134203	64136357	253	23030										
PCDH11X	27328	hgsc.bcm.edu	37	chrX	91518117	91518117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttttatcctaaatcagcggaAatctgaagggaaagtggcag	11	6	2	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:91518117A>T	ENST00000373094.1	+	4	3964	c.3119A>T	c.(3118-3120)aAa>aTa	p.K1040I	PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K1040I|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K1040I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1040					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATCAGCGGAAATCTGAAGGG	0.328																																					p.K1040I	NSCLC(38;925 1092 2571 38200 45895)	Atlas-SNP	.											.	PCDH11X	714	.	0			c.A3119T						PASS	.						45	40	42					X																	91518117		2200	4299	6499	SO:0001583	missense	27328	exon4			AGCGGAAATCTGA	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3119A>T	X.37:g.91518117A>T	ENSP00000362186:p.Lys1040Ile	Somatic	873	0	0		WXS	Illumina HiSeq	Phase_I	583	183	0.313894	NM_001168361	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	3.420	-0.118458	0.06838	.	.	ENSG00000102290	ENST00000373094;ENST00000504220;ENST00000406881;ENST00000356934	T;T;T	0.55930	0.49;0.58;0.51	4.37	1.99	0.26369	.	2.689910	0.01979	U	0.044639	T	0.48429	0.1499	L	0.27053	0.805	0.18873	N	0.999984	P;P;P	0.48503	0.852;0.911;0.856	P;P;B	0.47705	0.555;0.555;0.352	T	0.31364	-0.9946	10	0.66056	D	0.02	.	5.1595	0.15054	0.735:0.0:0.265:0.0	.	1040;1040;1040	Q9BZA7-6;Q9BZA7-8;Q9BZA7	.;.;PC11X_HUMAN	I	1040	ENSP00000362186:K1040I;ENSP00000423762:K1040I;ENSP00000384758:K1040I	ENSP00000349408:K1040I	K	+	2	0	PCDH11X	91404773	0.968000	0.33430	0.142000	0.22268	0.048000	0.14542	0.914000	0.28624	0.034000	0.15491	0.339000	0.21740	AAA	.	.	none		0.328	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91518117	A	T	91518117	3	4	32	1	0	0	0	0	1	0	0	0	11508	14	1	5	3215	5	PCDH11X	23	91518117	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	383914	91518117	63752443	254	23031										
NRK	203447	hgsc.bcm.edu	37	chrX	105153118	105153118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	aggcttctgcaggtacagtcCcaggtatccaaaaagcagca	10	11	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:105153118C>T	ENST00000243300.9	+	13	1788	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	NRK_ENST00000428173.2_Silent_p.S496S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	495	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGGTACAGTCCCAGGTATCCA	0.542										HNSCC(51;0.14)																											p.S495S		Atlas-SNP	.											.	NRK	321	.	0			c.C1485T						PASS	.						53	54	53					X																	105153118		2025	4166	6191	SO:0001819	synonymous_variant	203447	exon13			ACAGTCCCAGGTA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1485C>T	X.37:g.105153118C>T		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	161	15	0.0931677	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37																																																																																				.	.	none		0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105153118	C	T	105153118	2	4	32	1	0	0	0	0	0	0	0	1	10655	610	22	2		2	NRK	23	105153118	Silent	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	13635001	105153118	50117442	255	23032										
GPC3	2719	hgsc.bcm.edu	37	chrX	132833966	132833966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ttcatgttctacatgagcaaCttttaatactttcttgtcaa	4	8	4	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:132833966C>A	ENST00000370818.3	-	4	1568	c.1123G>T	c.(1123-1125)Gtt>Ttt	p.V375F	GPC3_ENST00000543339.1_Missense_Mutation_p.V321F|GPC3_ENST00000394299.2_Missense_Mutation_p.V398F	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	375					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACATGAGCAACTTTTAATACT	0.333			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.V398F		Atlas-SNP	.	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88	.	0			c.G1192T						PASS	.						66	60	62					X																	132833966		2203	4298	6501	SO:0001583	missense	2719	exon5	Familial Cancer Database	SGBS	GAGCAACTTTTAA	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1123G>T	X.37:g.132833966C>A	ENSP00000359854:p.Val375Phe	Somatic	976	2	0.00204918		WXS	Illumina HiSeq	Phase_I	583	200	0.343053	NM_001164617	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077701|4.077701	0.76528|0.76528	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	T|T;T;T	0.52526|0.51817	0.66|0.69;0.69;0.69	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.546935	.|0.17892	.|N	.|0.158471	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.47716|0.47716	1.5|1.5	0.39149|0.39149	D|D	0.962187|0.962187	.|D;D;P;P	.|0.67145	.|0.984;0.996;0.872;0.647	.|D;D;P;P	.|0.65140	.|0.932;0.93;0.593;0.593	T|T	0.57780|0.57780	-0.7752|-0.7752	7|10	0.29301|0.33141	T|T	0.29|0.24	.|.	15.0436|15.0436	0.71811|0.71811	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|359;321;398;375	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	N|F	104|375;398;321	ENSP00000385307:K104N|ENSP00000359854:V375F;ENSP00000377836:V398F;ENSP00000444222:V321F	ENSP00000385307:K104N|ENSP00000359854:V375F	K|V	-|-	3|1	2|0	GPC3|GPC3	132661632|132661632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	2.376000|2.376000	0.44292|0.44292	2.194000|2.194000	0.70268|0.70268	0.429000|0.429000	0.28392|0.28392	AAG|GTT	.	.	none		0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		A	132833966	C	A	132833966	3	1	32	1	0	0	0	0	1	0	0	0	6599	565	20	4	639	4	GPC3	23	132833966	Missense_Mutation	SNP	C	TCGA-GS-A9TW-01A-11D-A382-10	27680848	132833966	22436594	256	23033										
MTMR1	8776	hgsc.bcm.edu	37	chrX	149899968	149899968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ccaaatgagagttggaaaatAtccaaaataaacagtaatta	6	5	0	1			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:149899968A>G	ENST00000370390.3	+	8	901	c.744A>G	c.(742-744)atA>atG	p.I248M	MTMR1_ENST00000542156.1_Missense_Mutation_p.I248M|MTMR1_ENST00000451863.2_Missense_Mutation_p.I248M|MTMR1_ENST00000445323.2_Missense_Mutation_p.I256M|MTMR1_ENST00000541925.1_Missense_Mutation_p.I154M|MTMR1_ENST00000538506.1_Missense_Mutation_p.I135M|MTMR1_ENST00000544228.1_Missense_Mutation_p.I248M	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	248	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGGAAAATATCCAAAATAA	0.388																																					p.I248M		Atlas-SNP	.											.	MTMR1	82	.	0			c.A744G						PASS	.						128	122	124					X																	149899968		2203	4300	6503	SO:0001583	missense	8776	exon8			GAAAATATCCAAA	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.744A>G	X.37:g.149899968A>G	ENSP00000359417:p.Ile248Met	Somatic	317	0	0		WXS	Illumina HiSeq	Phase_I	219	74	0.3379	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678394	0.47886	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-2.85	5.78	1.79	0.24919	Myotubularin phosphatase domain (1);	0.038960	0.85682	D	0.000000	D	0.92996	0.7771	M	0.82433	2.59	0.51767	D	0.999939	B;P;B	0.40180	0.218;0.705;0.368	B;B;B	0.35510	0.09;0.186;0.204	D	0.89151	0.3523	9	.	.	.	.	12.7558	0.57335	0.613:0.387:0.0:0.0	.	248;256;248	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	M	154;248;248;256;248;248;135	ENSP00000441879:I154M;ENSP00000445281:I248M;ENSP00000359417:I248M;ENSP00000414178:I256M;ENSP00000440534:I248M;ENSP00000387446:I248M;ENSP00000443444:I135M	.	I	+	3	3	MTMR1	149650626	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.089000	0.30890	0.013000	0.14918	0.441000	0.28932	ATA	.	.	none		0.388	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		G	149899968	A	G	149899968	3	3	32	1	0	0	0	0	1	0	0	0	9938	439	16	2	774	2	MTMR1	23	149899968	Missense_Mutation	SNP	A	TCGA-GS-A9TW-01A-11D-A382-10	17066002	149899968	5370592	257	23034										
GABRQ	55879	hgsc.bcm.edu	37	chrX	151817742	151817742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182186234817814	45	8.45056383143173e-05	1.99254026189043	2.67443181818182	1.78679711990596	0.00118237692784816	0.00605968175522182	22	ctacagcagcttgttccctgGatctgcataaattccctatg	7	12	1	0			TCGA-GS-A9TW-01A-11D-A382-10	TCGA-GS-A9TW-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c78bd1a-f7eb-4456-8210-f115aa079df5	e592ed1e-4fa3-459e-8256-01b5e2dc09ce	g.chrX:151817742G>C	ENST00000370306.2	+	5	576	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	186					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGTTCCCTGGATCTGCATAA	0.507																																					p.D186H		Atlas-SNP	.											.	GABRQ	131	.	0			c.G556C						PASS	.						188	147	161					X																	151817742		2203	4300	6503	SO:0001583	missense	55879	exon5			TCCCTGGATCTGC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.556G>C	X.37:g.151817742G>C	ENSP00000359329:p.Asp186His	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	153	60	0.392157	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676104	0.47886	.	.	ENSG00000147402	ENST00000370306	T	0.81415	-1.49	5.8	1.89	0.25635	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.399455	0.21498	N	0.073562	D	0.84656	0.5520	L	0.50847	1.595	0.35231	D	0.776932	D	0.76494	0.999	D	0.69824	0.966	D	0.85842	0.1398	10	0.66056	D	0.02	.	11.1219	0.48296	0.2236:0.0:0.7764:0.0	.	186	Q9UN88	GBRT_HUMAN	H	186	ENSP00000359329:D186H	ENSP00000359329:D186H	D	+	1	0	GABRQ	151568398	1.000000	0.71417	0.116000	0.21606	0.233000	0.25261	2.860000	0.48372	-0.063000	0.13065	0.600000	0.82982	GAT	.	.	none		0.507	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151817742	G	C	151817742	3	2	32	1	0	0	0	0	1	0	0	0	6175	1174	41	4	574	4	GABRQ	23	151817742	Missense_Mutation	SNP	G	TCGA-GS-A9TW-01A-11D-A382-10	1917774	151817742	3452818	258	23035										
NRD1	4898	hgsc.bcm.edu	37	chr1	52306075	52306075	+	Silent	SNP	T	T	C													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	tcatcatcatcttcttcttcTtcctccacctcctcttcttc					rs78724482	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr1:52306075T>C	ENST00000354831.7	-	2	642	c.453A>G	c.(451-453)gaA>gaG	p.E151E	NRD1_ENST00000352171.7_Silent_p.E151E|NRD1_ENST00000539524.1_Silent_p.E19E|NRD1_ENST00000544028.1_Silent_p.E19E|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						cttcttcttcttcctccacct	0.388																																					p.E151E		Atlas-SNP	.											.	NRD1	89	.	0			c.A453G						PASS	.						165	136	146					1																	52306075		2203	4300	6503	SO:0001819	synonymous_variant	4898	exon2			TTCTTCTTCCTCC	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.453A>G	1.37:g.52306075T>C		Somatic	356	0	0		WXS	Illumina HiSeq	Phase_I	370	35	0.0945946	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	CCDS559.1																																																																																			T|0.952;C|0.048	0.048	strong		0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		C	52306075	T	C	52306075	2	2	33	1	0	0	0	0	0	0	0	1	10645	1606	56	3		3	NRD1	1	52306075	Silent	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10		52306075	196944546	1	23036	473	2								
NRD1	4898	hgsc.bcm.edu	37	chr1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	catcatcttcttcttcttccTccacctcctcttcttcttca					rs62648104		TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000352171.7_Missense_Mutation_p.E150V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|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						PASS	.						163	138	146					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	1.37:g.52306079T>A	ENSP00000346890:p.Glu150Val	Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	366	26	0.0710383	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	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	0.976	weak		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		A	52306079	T	A	52306079	3	1	33	1	0	0	0	0	1	0	0	0	10645	1551	54	5	3338	5	NRD1	1	52306079	Missense_Mutation	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10	4	52306079	196944542	2	23037	473	2								
IGSF3	3321	hgsc.bcm.edu	37	chr1	117122285	117122285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gttgggtcgtcgtcgtcgtcGtcgtcctcctcctcctcctc	10	17	0	0	rs576658823|rs114915440	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr1:117122285G>C	ENST00000369486.3	-	10	3828	c.3063C>G	c.(3061-3063)gaC>gaG	p.D1021E	IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1021	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1041D(1)|p.D1021D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcgtcgtcctcct	0.632																																					p.D1041E		Atlas-SNP	.											IGSF3_ENST00000369483,NS,carcinoma,0,4	IGSF3	294	4	2	Substitution - coding silent(2)	prostate(2)	c.C3123G						scavenged	.						28	28	28					1																	117122285		2203	4300	6503	SO:0001583	missense	3321	exon11			GTCGTCGTCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3063C>G	1.37:g.117122285G>C	ENSP00000358498:p.Asp1021Glu	Somatic	80	2	0.025		WXS	Illumina HiSeq	Phase_I	90	16	0.177778	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.470330	0.00011	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02890	4.12;4.12;4.12	0.329	0.329	0.15924	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.329841	0.23883	N	0.043632	T	0.00468	0.0015	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46925	-0.9156	8	0.02654	T	1	-2.9576	.	.	.	.	1021;1041	O75054;A6NJZ6	IGSF3_HUMAN;.	E	1021;1041;1041	ENSP00000358498:D1021E;ENSP00000358495:D1041E;ENSP00000321184:D1041E	ENSP00000321184:D1041E	D	-	3	2	IGSF3	116923808	0.026000	0.19158	0.036000	0.18154	0.121000	0.20230	-1.340000	0.02650	-0.471000	0.06891	-0.473000	0.04963	GAC	.	.	weak		0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		C	117122285	G	C	117122285	3	2	33	1	0	0	0	0	1	0	0	0	7601	1136	40	4	529	4	IGSF3	1	117122285	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	64816206	117122285	132128336	3	23038										
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749008	152749009	+	In_Frame_Ins	INS	-	-	CAGCTCTGGGGGCTGCTG													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	tccggaggctgctgtggctcINScagctctgggggctgctgca					rs544759833|rs200931119	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr1:152749008_152749009insCAGCTCTGGGGGCTGCTG	ENST00000334371.2	+	1	161_162	c.161_162insCAGCTCTGGGGGCTGCTG	c.(160-165)tccagc>tcCAGCTCTGGGGGCTGCTGcagc	p.61_62insSGGCCS		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	61					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGCTCCAGCTCTGGGG	0.683																																					p.S54delinsSSSGGCC		Atlas-Indel	.											LCE1F,colon,carcinoma,0,2	LCE1F	42	2	0			c.161_162insCAGCTCTGGGGGCTGCTG						PASS	.																																			SO:0001652	inframe_insertion	353137	exon1			.		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.162_179dupCAGCTCTGGGGGCTGCTG	1.37:g.152749008_152749009insCAGCTCTGGGGGCTGCTG	ENSP00000334187:p.Ser56_Ser61dup	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	158	25	0.158228	NM_178354		In_Frame_Ins	INS	ENST00000334371.2	37	CCDS1023.1																																																																																			.	.	none		0.683	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		CAGCTCTGGGGGCTGCTG	152749009	-	CAGCTCTGGGGGCTGCTG	152749008	7	5	33	1	0	1	1	0	0	0	0	0	8664	855	30	0	163	0	LCE1F	1	152749008	In_Frame_Ins	INS	-	TCGA-GS-A9TX-01A-11D-A382-10	35626723	152749008	96501613	4	23039										
OR2L2	26246	hgsc.bcm.edu	37	chr1	248202348	248202348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ctttgcttatacctatgtacGtccaagatccctgcgatctc	6	13	1	1	rs138166879		TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr1:248202348G>A	ENST00000366479.2	+	1	875	c.779G>A	c.(778-780)cGt>cAt	p.R260H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCTATGTACGTCCAAGATCC	0.493																																					p.R260H		Atlas-SNP	.											OR2L2,right_upper_lobe,carcinoma,+1,2	OR2L2	115	2	0			c.G779A						PASS	.	G	HIS/ARG,	1,4405		0,1,2202	149	135	139		779,	-0.3	0	1	dbSNP_134	139	1,8599		0,1,4299	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	29,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,	260/313,	248202348	2,13004	2203	4300	6503	SO:0001583	missense	26246	exon1			ATGTACGTCCAAG	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.779G>A	1.37:g.248202348G>A	ENSP00000355435:p.Arg260His	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	116	18	0.155172	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	7.027	0.559906	0.13436	2.27E-4	1.16E-4	ENSG00000203663	ENST00000366479	T	0.37752	1.18	1.9	-0.295	0.12828	GPCR, rhodopsin-like superfamily (1);	1.359230	0.05838	N	0.618748	T	0.15652	0.0377	N	0.02876	-0.465	0.09310	N	1	B	0.18741	0.03	B	0.20955	0.032	T	0.24728	-1.0152	10	0.27785	T	0.31	.	5.8101	0.18462	0.6147:0.0:0.3853:0.0	.	260	Q8NH16	OR2L2_HUMAN	H	260	ENSP00000355435:R260H	ENSP00000355435:R260H	R	+	2	0	OR2L2	246268971	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-0.108000	0.10857	0.035000	0.15519	0.194000	0.17425	CGT	G|1.000;A|0.000	0.000	weak		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		A	248202348	G	A	248202348	3	1	33	1	0	0	0	0	1	0	0	0	11007	1145	40	1	781	1	OR2L2	1	248202348	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	95453340	248202348	1048273	5	23040										
ASXL2	55252	hgsc.bcm.edu	37	chr2	25966225	25966225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	tttctgttgtgttggtagctAtgagcgctcccatccccctt	9	12	1	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:25966225A>T	ENST00000435504.4	-	13	3274	c.2981T>A	c.(2980-2982)aTa>aAa	p.I994K	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.I966K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	994					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)					GTTGGTAGCTATGAGCGCTCC	0.478																																					p.I994K		Atlas-SNP	.											.	ASXL2	217	.	0			c.T2981A						PASS	.						69	71	70					2																	25966225		1942	4150	6092	SO:0001583	missense	55252	exon12			GTAGCTATGAGCG			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.2981T>A	2.37:g.25966225A>T	ENSP00000391447:p.Ile994Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	74	14	0.189189	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	A	1.432	-0.570090	0.03910	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.22134	1.97;1.97	5.94	2.99	0.34606	.	1.396170	0.03804	N	0.264897	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	0.999999	B	0.15473	0.013	B	0.12156	0.007	T	0.25779	-1.0122	10	0.87932	D	0	6.8419	5.2126	0.15325	0.2217:0.3059:0.4723:0.0	.	994	Q76L83	ASXL2_HUMAN	K	994;966	ENSP00000391447:I994K;ENSP00000337250:I966K	ENSP00000337250:I966K	I	-	2	0	ASXL2	25819729	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.088000	0.14979	0.775000	0.33450	0.460000	0.39030	ATA	.	.	none		0.478	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25966225	A	T	25966225	3	4	33	1	0	0	0	0	1	0	0	0	1067	449	16	5	1330	5	ASXL2	2	25966225	Missense_Mutation	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10		25966225	217233148	6	23041			1	101		3	3	54	N	T_A	1.761397e-09
ASXL2	55252	hgsc.bcm.edu	37	chr2	25966254	25966254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	cccatccccctttcctctttTgcagtcagtggaaccgtttt	6	15	2	0			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:25966254T>C	ENST00000435504.4	-	13	3245	c.2952A>G	c.(2950-2952)gcA>gcG	p.A984A	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Silent_p.A956A			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	984					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)					TTTCCTCTTTTGCAGTCAGTG	0.473																																					p.A984A		Atlas-SNP	.											.	ASXL2	217	.	0			c.A2952G						PASS	.						82	82	82					2																	25966254		1908	4135	6043	SO:0001819	synonymous_variant	55252	exon12			CTCTTTTGCAGTC			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.2952A>G	2.37:g.25966254T>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	16	0.207792	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																				.	.	none		0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25966254	T	C	25966254	2	2	33	1	0	0	0	0	0	0	0	1	1067	1799	63	2		2	ASXL2	2	25966254	Silent	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10	29	25966254	217233119	7	23042			1	101		3	3	54	N	T_A	1.761397e-09
ASXL2	55252	hgsc.bcm.edu	37	chr2	25966278	25966278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gtcagtggaaccgttttcatTtcaactttggtgagaggttt	11	6	3	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:25966278T>C	ENST00000435504.4	-	13	3221	c.2928A>G	c.(2926-2928)gaA>gaG	p.E976E	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Silent_p.E948E			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	976					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)					CCGTTTTCATTTCAACTTTGG	0.448																																					p.E976E		Atlas-SNP	.											.	ASXL2	217	.	0			c.A2928G						PASS	.						108	107	107					2																	25966278		1893	4115	6008	SO:0001819	synonymous_variant	55252	exon12			TTTCATTTCAACT			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.2928A>G	2.37:g.25966278T>C		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	89	14	0.157303	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																				.	.	none		0.448	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25966278	T	C	25966278	2	2	33	1	0	0	0	0	0	0	0	1	1067	1838	64	2		2	ASXL2	2	25966278	Silent	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10	24	25966278	217233095	8	23043			1	101		3	3	54	N	T_A	1.761397e-09
USP39	10713	hgsc.bcm.edu	37	chr2	85857936	85857936	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ccaggggatatcatgttcttGttggtccagcgttttggaga	13	7	2	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:85857936G>C	ENST00000323701.6	+	6	826	c.816G>C	c.(814-816)ttG>ttC	p.L272F	USP39_ENST00000409025.1_Missense_Mutation_p.L272F|USP39_ENST00000409766.3_Missense_Mutation_p.L272F|USP39_ENST00000450066.2_Missense_Mutation_p.L169F|USP39_ENST00000409470.1_Missense_Mutation_p.L272F|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	272	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCATGTTCTTGTTGGTCCAGC	0.438																																					p.L272F		Atlas-SNP	.											.	USP39	33	.	0			c.G816C						PASS	.						147	148	148					2																	85857936		2203	4300	6503	SO:0001583	missense	10713	exon6			GTTCTTGTTGGTC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.816G>C	2.37:g.85857936G>C	ENSP00000312981:p.Leu272Phe	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	258	67	0.25969	NM_001256725	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518167	0.64634	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.32272	1.46;4.1;1.46;1.46;1.46	5.97	0.741	0.18336	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	M	0.84219	2.685	0.49798	D	0.999825	D;P;D;D;D;D	0.71674	0.972;0.738;0.995;0.998;0.992;0.969	D;P;D;D;D;D	0.71414	0.924;0.738;0.918;0.973;0.933;0.924	T	0.47611	-0.9104	10	0.56958	D	0.05	-5.3478	6.4861	0.22089	0.2936:0.123:0.5834:0.0	.	169;194;272;272;272;272	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	F	169;272;272;272;272;272	ENSP00000396133:L169F;ENSP00000386572:L272F;ENSP00000386864:L272F;ENSP00000312981:L272F;ENSP00000386803:L272F	ENSP00000312981:L272F	L	+	3	2	USP39	85711447	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.904000	0.28491	0.421000	0.25980	-0.229000	0.12294	TTG	.	.	none		0.438	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		C	85857936	G	C	85857936	3	2	33	1	0	0	0	0	1	0	0	0	17067	1368	48	4	838	4	USP39	2	85857936	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	59891658	85857936	157341437	9	23044										
REV1	51455	hgsc.bcm.edu	37	chr2	100065955	100065955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	cattagttttctcaattcctCagcggaaggatctgcaaaat	7	9	3	0			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:100065955C>T	ENST00000258428.3	-	4	421	c.193G>A	c.(193-195)Gag>Aag	p.E65K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.E65K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	65	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCAATTCCTCAGCGGAAGGA	0.318								Direct reversal of damage																													p.E65K		Atlas-SNP	.											.	REV1	100	.	0			c.G193A						PASS	.						79	80	80					2																	100065955		2203	4300	6503	SO:0001583	missense	51455	exon4			ATTCCTCAGCGGA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.193G>A	2.37:g.100065955C>T	ENSP00000258428:p.Glu65Lys	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	126	27	0.214286	NM_001037872	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794160	0.90453	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.79940	-1.32;-1.32	6.07	6.07	0.98685	BRCT (4);	0.145050	0.64402	D	0.000009	T	0.79534	0.4462	L	0.52126	1.63	0.52501	D	0.999959	P;B;B	0.43352	0.804;0.389;0.029	B;B;B	0.39840	0.311;0.21;0.036	T	0.80538	-0.1338	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	44;65;65	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	K	65	ENSP00000377091:E65K;ENSP00000258428:E65K	ENSP00000258428:E65K	E	-	1	0	REV1	99432387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.885000	0.99019	0.655000	0.94253	GAG	.	.	none		0.318	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100065955	C	T	100065955	3	4	33	1	0	0	0	0	1	0	0	0	13239	835	29	2	3642	2	REV1	2	100065955	Missense_Mutation	SNP	C	TCGA-GS-A9TX-01A-11D-A382-10	14208019	100065955	143133418	10	23045										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141819775	141819775	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	tgaatcaattatccttgttcGgttcatcccatccatgtcac	5	12	3	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr2:141819775G>T	ENST00000389484.3	-	8	2052	c.1081C>A	c.(1081-1083)Cga>Aga	p.R361R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	361					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCTTGTTCGGTTCATCCCA	0.413										TSP Lung(27;0.18)																											p.R361R	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											LRP1B,NS,carcinoma,+1,3	LRP1B	1315	3	0			c.C1081A						PASS	.						153	134	140					2																	141819775		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon8			TTGTTCGGTTCAT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1081C>A	2.37:g.141819775G>T		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	141	26	0.184397	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.	.	none		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141819775	G	T	141819775	2	4	33	1	0	0	0	0	0	0	0	1	8955	1124	39	4		4	LRP1B	2	141819775	Silent	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	41753820	141819775	101379598	11	23046										
SETMAR	6419	hgsc.bcm.edu	37	chr3	4354652	4354652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	aataacctttcccggatgcaTttgtgtcaaaactccctgcc	6	13	1	0			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr3:4354652T>C	ENST00000358065.4	+	2	294	c.227T>C	c.(226-228)aTt>aCt	p.I76T	SETMAR_ENST00000430981.1_Missense_Mutation_p.I76T|SETMAR_ENST00000425863.1_Missense_Mutation_p.I76T|SETMAR_ENST00000462115.1_3'UTR|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	76	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CCCGGATGCATTTGTGTCAAA	0.458								Chromatin Structure																													p.I76T		Atlas-SNP	.											.	SETMAR	30	.	0			c.T227C						PASS	.						113	107	109					3																	4354652		2203	4300	6503	SO:0001583	missense	6419	exon2			GATGCATTTGTGT	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.227T>C	3.37:g.4354652T>C	ENSP00000373354:p.Ile76Thr	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	171	50	0.292398	NM_001243723	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	T	8.760	0.923452	0.18056	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	D;D;T	0.88354	-2.37;-2.37;-1.26	5.13	-7.57	0.01318	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.	.	.	.	T	0.75459	0.3852	N	0.20685	0.6	0.09310	N	1	B;B;B	0.16396	0.017;0.006;0.0	B;B;B	0.22753	0.031;0.041;0.008	T	0.60576	-0.7236	9	0.23302	T	0.38	.	7.2937	0.26380	0.0851:0.536:0.1722:0.2066	.	76;63;76	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	T	76	ENSP00000373354:I76T;ENSP00000403000:I76T;ENSP00000403145:I76T	ENSP00000373354:I76T	I	+	2	0	SETMAR	4329652	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-2.058000	0.01394	-1.487000	0.01849	0.455000	0.32223	ATT	.	.	none		0.458	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		C	4354652	T	C	4354652	3	2	33	1	0	0	0	0	1	0	0	0	14140	1493	52	2	233	2	SETMAR	3	4354652	Missense_Mutation	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10		4354652	193667778	12	23047										
TRAK1	22906	hgsc.bcm.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					p.T688delinsTE	GBM(44;195 884 22595 31865 41850)	Pindel	.											TRAK1,caecum,carcinoma,0,1	TRAK1	188	1	1	Deletion - In frame(1)	kidney(1)	c.2063_2064insGGA						PASS	.																																			SO:0001627	intron_variant	22906	exon14			.		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA		Somatic	58	.	.		WXS	Illumina HiSeq	Phase_I	78	12	0.154	NM_001265608	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	ENST00000327628.5	37	CCDS43072.1																																																																																			.	.	strong		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		GGA	42251578	-	GGA	42251577	6	5	33	0	1	1	1	0	0	0	0	0	16446	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-GS-A9TX-01A-11D-A382-10	37896925	42251577	155770853	13	23048										
CELSR3	1951	hgsc.bcm.edu	37	chr3	48698377	48698377	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	cagtggccgtgacgcgcagcAcgactgtgtgggggcgcaca	17	12	0	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr3:48698377A>C	ENST00000164024.4	-	1	1971	c.1691T>G	c.(1690-1692)gTg>gGg	p.V564G	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.V564G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	564	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACGCGCAGCACGACTGTGTG	0.587																																					p.V564G		Atlas-SNP	.											.	CELSR3	237	.	0			c.T1691G						PASS	.						69	49	56					3																	48698377		2203	4300	6503	SO:0001583	missense	1951	exon1			CGCAGCACGACTG	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1691T>G	3.37:g.48698377A>C	ENSP00000164024:p.Val564Gly	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	81	15	0.185185	NM_001407	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607092	0.87157	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.02103	4.45;4.45	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.18002	0.0432	M	0.92970	3.365	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.939	T	0.02144	-1.1206	9	0.87932	D	0	.	15.8125	0.78576	1.0:0.0:0.0:0.0	.	564;634	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	G	564	ENSP00000164024:V564G;ENSP00000445694:V564G	ENSP00000164024:V564G	V	-	2	0	CELSR3	48673381	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.277000	0.95755	2.134000	0.65973	0.533000	0.62120	GTG	.	.	none		0.587	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		C	48698377	A	C	48698377	3	2	33	1	0	0	0	0	1	0	0	0	3223	159	6	5	8387	5	CELSR3	3	48698377	Missense_Mutation	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10	6446800	48698377	149324053	14	23049										
SLC7A14	57709	hgsc.bcm.edu	37	chr3	170198934	170198934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	accactggtgtctctgtgtaGgagctgacgtgagccaggaa	14	9	1	2			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr3:170198934G>A	ENST00000231706.5	-	7	1452	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	379					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCTCTGTGTAGGAGCTGACGT	0.572																																					p.S379S		Atlas-SNP	.											.	SLC7A14	110	.	0			c.C1137T						PASS	.						33	29	31					3																	170198934		2203	4300	6503	SO:0001819	synonymous_variant	57709	exon7			TGTGTAGGAGCTG	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1137C>T	3.37:g.170198934G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	49	7	0.142857	NM_020949	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																			.	.	none		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170198934	G	A	170198934	2	1	33	1	0	0	0	0	0	0	0	1	14696	987	35	2		2	SLC7A14	3	170198934	Silent	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	121500557	170198934	27823496	15	23050										
KCNMB3	27094	hgsc.bcm.edu	37	chr3	178960904	178960904	+	Frame_Shift_Del	DEL	T	T	-													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ccaaaataaacagtggaagaTagccatttggtcatactttt							TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr3:178960904delT	ENST00000314235.5	-	4	1139	c.628delA	c.(628-630)atcfs	p.I210fs	KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_Frame_Shift_Del_p.I206fs|KCNMB3_ENST00000349697.2_Frame_Shift_Del_p.I208fs|KCNMB3_ENST00000485523.1_Frame_Shift_Del_p.I188fs	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	210					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	CAGTGGAAGATAGCCATTTGG	0.418																																					p.I210fs		Atlas-Indel	.											.	KCNMB3	46	.	0			c.629delT						PASS	.						15	16	16					3																	178960904		2135	4244	6379	SO:0001589	frameshift_variant	27094	exon4			.	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.628delA	3.37:g.178960904delT	ENSP00000319370:p.Ile210fs	Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	452	47	0.103982	NM_014407	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Frame_Shift_Del	DEL	ENST00000314235.5	37	CCDS3226.1																																																																																			.	.	none		0.418	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			-	178960904	T	-	178960904	7	5	33	1	0	1	0	1	0	0	0	0	8076	1406	49	0	288	0	KCNMB3	3	178960904	Frame_Shift_Del	DEL	T	TCGA-GS-A9TX-01A-11D-A382-10	8761970	178960904	19061526	16	23051										
UBA6	55236	hgsc.bcm.edu	37	chr4	68530944	68530944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gagtcttaacttggacagctAtgcctccatgtaaatatggt	9	8	1	0			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr4:68530944A>G	ENST00000322244.5	-	10	919	c.860T>C	c.(859-861)aTa>aCa	p.I287T	UBA6_ENST00000420827.2_Missense_Mutation_p.I287T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	287					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTGGACAGCTATGCCTCCATG	0.308																																					p.I287T		Atlas-SNP	.											.	UBA6	98	.	0			c.T860C						PASS	.						77	83	81					4																	68530944		2203	4297	6500	SO:0001583	missense	55236	exon10			ACAGCTATGCCTC	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.860T>C	4.37:g.68530944A>G	ENSP00000313454:p.Ile287Thr	Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	396	60	0.151515	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892823	0.52121	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.55760	0.5;0.5	5.37	5.37	0.77165	Molybdenum cofactor biosynthesis, MoeB (1);	0.046676	0.85682	D	0.000000	T	0.52613	0.1745	L	0.60957	1.885	0.50632	D	0.999888	P;P;P	0.43885	0.724;0.82;0.803	B;B;B	0.42062	0.259;0.374;0.232	T	0.56092	-0.8036	10	0.45353	T	0.12	-15.3972	15.3307	0.74208	1.0:0.0:0.0:0.0	.	287;287;287	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	T	287	ENSP00000313454:I287T;ENSP00000399234:I287T	ENSP00000313454:I287T	I	-	2	0	UBA6	68213539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.799000	0.69101	2.173000	0.68751	0.377000	0.23210	ATA	.	.	none		0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		G	68530944	A	G	68530944	3	3	33	1	0	0	0	0	1	0	0	0	16829	449	16	2	2394	2	UBA6	4	68530944	Missense_Mutation	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10		68530944	122623332	17	23052										
PTPN13	5783	hgsc.bcm.edu	37	chr4	87696720	87696720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	atgtcatccattatgtgaacGgagtcagcacacaaggaatg	10	8	2	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr4:87696720G>A	ENST00000411767.2	+	35	5869	c.5806G>A	c.(5806-5808)Gga>Aga	p.G1936R	PTPN13_ENST00000316707.6_Missense_Mutation_p.G1745R|PTPN13_ENST00000436978.1_Missense_Mutation_p.G1941R|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1941R|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1917R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1936	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTATGTGAACGGAGTCAGCAC	0.408																																					p.G1941R		Atlas-SNP	.											.	PTPN13	203	.	0			c.G5821A						PASS	.						83	84	84					4																	87696720		2174	4282	6456	SO:0001583	missense	5783	exon35			GTGAACGGAGTCA		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5806G>A	4.37:g.87696720G>A	ENSP00000407249:p.Gly1936Arg	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	132	22	0.166667	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981634	0.93044	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.000000	0.47852	D	0.000211	T	0.76835	0.4043	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82321	-0.0515	10	0.87932	D	0	.	19.2786	0.94042	0.0:0.0:1.0:0.0	.	1745;1917;1936;1941	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	1917;1941;1745;1936;1941;1885	ENSP00000408368:G1917R;ENSP00000394794:G1941R;ENSP00000322675:G1745R;ENSP00000407249:G1936R;ENSP00000426626:G1941R	ENSP00000322675:G1745R	G	+	1	0	PTPN13	87915744	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.930000	0.92872	2.552000	0.86080	0.460000	0.39030	GGA	.	.	none		0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87696720	G	A	87696720	3	1	33	1	0	0	0	0	1	0	0	0	12782	1117	39	1	5955	1	PTPN13	4	87696720	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	19165776	87696720	103457556	18	23053										
SLC27A6	28965	hgsc.bcm.edu	37	chr5	128301873	128301873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ttctaggggctggaatggtcGtcctgcacttcttgcagaaa	12	9	2	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr5:128301873G>A	ENST00000262462.4	+	1	1053	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.V15I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V15I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	15					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGAATGGTCGTCCTGCACTT	0.507																																					p.V15I		Atlas-SNP	.											.	SLC27A6	112	.	0			c.G43A						PASS	.						70	68	69					5																	128301873		2203	4300	6503	SO:0001583	missense	28965	exon1			ATGGTCGTCCTGC	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.43G>A	5.37:g.128301873G>A	ENSP00000262462:p.Val15Ile	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	234	31	0.132479	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432019	0.01108	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52526	0.66;0.66;0.66	4.32	-1.02	0.10135	.	0.885476	0.10248	N	0.697577	T	0.18923	0.0454	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.27468	-1.0073	10	0.07325	T	0.83	-9.4273	11.1007	0.48172	0.0:0.0714:0.6016:0.327	.	15	Q9Y2P4	S27A6_HUMAN	I	15	ENSP00000262462:V15I;ENSP00000378684:V15I;ENSP00000421024:V15I	ENSP00000262462:V15I	V	+	1	0	SLC27A6	128329772	0.000000	0.05858	0.026000	0.17262	0.533000	0.34776	-1.019000	0.03622	-0.143000	0.11334	-0.518000	0.04402	GTC	.	.	none		0.507	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		A	128301873	G	A	128301873	3	1	33	1	0	0	0	0	1	0	0	0	14530	1145	40	1	45	1	SLC27A6	5	128301873	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10		128301873	52613387	19	23054										
HIST1H2BL	8340	hgsc.bcm.edu	37	chr6	27775319	27775319	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	agaatttacttggagctggtGtacttggtgacggccttggt	14	6	0	2	rs141178835	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr6:27775319G>T	ENST00000377401.2	-	1	390	c.366C>A	c.(364-366)taC>taA	p.Y122*	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	122					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGGAGCTGGTGTACTTGGTGA	0.562																																					p.Y122X		Atlas-SNP	.											HIST1H2BL,NS,carcinoma,0,2	HIST1H2BL	48	2	0			c.C366A						PASS	.						81	83	82					6																	27775319		2203	4300	6503	SO:0001587	stop_gained	8340	exon1			GCTGGTGTACTTG	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.366C>A	6.37:g.27775319G>T	ENSP00000366618:p.Tyr122*	Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	139	17	0.122302	NM_003519	B2R5A3|Q52LW9	Nonsense_Mutation	SNP	ENST00000377401.2	37	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456850	0.63401	.	.	ENSG00000185130	ENST00000377401	.	.	.	4.35	1.58	0.23477	.	0.163302	0.23690	U	0.045538	.	.	.	.	.	.	0.33563	D	0.597642	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4147	0.38514	0.2395:0.0:0.7605:0.0	.	.	.	.	X	122	.	ENSP00000366618:Y122X	Y	-	3	2	HIST1H2BL	27883298	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.813000	0.48002	0.180000	0.19960	-0.768000	0.03414	TAC	G|1.000;A|0.000	.	alt		0.562	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		T	27775319	G	T	27775319	4	4	33	1	0	0	0	0	0	1	0	0	7151	1372	48	4	18	4	HIST1H2BL	6	27775319	Nonsense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10		27775319	143339748	20	23055										
LTB	4050	hgsc.bcm.edu	37	chr6	31549350	31549350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ccttacctatgaggtgggcaGctgggagcccggggctgaga	17	10	0	2			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr6:31549350G>A	ENST00000429299.2	-	3	273	c.266C>T	c.(265-267)gCt>gTt	p.A89V	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_Silent_p.L74L	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	89					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GAGGTGGGCAGCTGGGAGCCC	0.567																																					p.A89V		Atlas-SNP	.											.	LTB	19	.	0			c.C266T						PASS	.						97	115	108					6																	31549350		1511	2708	4219	SO:0001583	missense	4050	exon3			TGGGCAGCTGGGA	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.266C>T	6.37:g.31549350G>A	ENSP00000410481:p.Ala89Val	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	123	19	0.154472	NM_002341	P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088790	0.76756	.	.	ENSG00000227507	ENST00000429299	T	0.24908	1.83	5.26	5.26	0.73747	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.184906	0.37955	N	0.001867	T	0.33294	0.0858	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03922	-1.0992	9	0.19147	T	0.46	-7.4596	14.3569	0.66742	0.0:0.0:1.0:0.0	.	89	Q06643	TNFC_HUMAN	V	89	ENSP00000410481:A89V	ENSP00000410481:A89V	A	-	2	0	LTB	31657329	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	3.084000	0.50143	2.434000	0.82447	0.655000	0.94253	GCT	.	.	none		0.567	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			A	31549350	G	A	31549350	3	1	33	1	0	0	0	0	1	0	0	0	9070	971	34	2	476	2	LTB	6	31549350	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	3774031	31549350	139565717	21	23056										
TTBK1	84630	hgsc.bcm.edu	37	chr6	43250767	43250767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaagaggagga	23	0	0	4			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr6:43250767G>A	ENST00000259750.4	+	14	2372	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	763	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aggaagaagaggaggaggagg	0.587																																					p.E763E		Atlas-SNP	.											.	TTBK1	124	.	0			c.G2289A						PASS	.						14	14	14					6																	43250767		2201	4297	6498	SO:0001819	synonymous_variant	84630	exon14			AGAAGAGGAGGAG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2289G>A	6.37:g.43250767G>A		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	32	7	0.21875	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	CCDS34455.1																																																																																			.	.	none		0.587	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			A	43250767	G	A	43250767	2	1	33	1	0	0	0	0	0	0	0	1	16673	991	35	2		2	TTBK1	6	43250767	Silent	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	11701417	43250767	127864300	22	23057										
B3GAT2	135152	hgsc.bcm.edu	37	chr6	71571677	71571677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	atgacttgaagacttacagcAaatcctttgtgaaaaataaa	6	6	0	4			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr6:71571677A>G	ENST00000230053.6	-	3	1349	c.741T>C	c.(739-741)ttT>ttC	p.F247F	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	247					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GACTTACAGCAAATCCTTTGT	0.328																																					p.F247F		Atlas-SNP	.											.	B3GAT2	33	.	0			c.T741C						PASS	.						54	57	56					6																	71571677		2203	4300	6503	SO:0001819	synonymous_variant	135152	exon3			TACAGCAAATCCT	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.741T>C	6.37:g.71571677A>G		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	217	28	0.129032	NM_080742	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																			.	.	none		0.328	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		G	71571677	A	G	71571677	2	3	33	1	0	0	0	0	0	0	0	1	1254	127	5	2		2	B3GAT2	6	71571677	Silent	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10	28320910	71571677	99543390	23	23058										
GTF2IRD2	84163	hgsc.bcm.edu	37	chr7	74211819	74211819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ccgggagcatatccagttcaCggacttcactaccacgtcca	8	15	2	0			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr7:74211819C>T	ENST00000405086.2	-	16	2221	c.2032G>A	c.(2032-2034)Gtg>Atg	p.V678M	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.V225M	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	678					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						atccagttcacggacttcact	0.507																																					p.V678M	NSCLC(40;560 1096 7501 40315 49546)	Atlas-SNP	.											GTF2IRD2,NS,carcinoma,+2,1	GTF2IRD2	38	1	0			c.G2032A						scavenged	.						48	42	44					7																	74211819		2200	4297	6497	SO:0001583	missense	84163	exon16			AGTTCACGGACTT	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2032G>A	7.37:g.74211819C>T	ENSP00000385491:p.Val678Met	Somatic	411	1	0.00243309		WXS	Illumina HiSeq	Phase_I	503	11	0.0218688	NM_173537	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	ENST00000405086.2	37	CCDS5576.1	.	.	.	.	.	.	.	.	.	.	c	13.20	2.165726	0.38217	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.26067	1.76;1.76	1.74	1.74	0.24563	Ribonuclease H-like (1);	.	.	.	.	T	0.47820	0.1466	M	0.84082	2.675	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.50750	-0.8791	9	0.87932	D	0	-10.5608	7.1297	0.25493	0.0:1.0:0.0:0.0	.	678	Q86UP8	GTD2A_HUMAN	M	678;225	ENSP00000385491:V678M;ENSP00000406723:V225M	ENSP00000385491:V678M	V	-	1	0	GTF2IRD2	73849755	0.838000	0.29461	0.710000	0.30468	0.827000	0.46813	1.812000	0.38952	1.317000	0.45149	0.442000	0.29010	GTG	.	.	none		0.507	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74211819	C	T	74211819	3	4	33	1	0	0	0	0	1	0	0	0	6869	536	19	1	821	1	GTF2IRD2	7	74211819	Missense_Mutation	SNP	C	TCGA-GS-A9TX-01A-11D-A382-10		74211819	84926844	24	23059										
CACNA2D1	781	hgsc.bcm.edu	37	chr7	81642816	81642818	+	In_Frame_Del	DEL	ATA	ATA	-													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gcaccaatggaaggaatttcAtaataataacctgaaatata							TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr7:81642816_81642818delATA	ENST00000356253.5	-	14	1486_1488	c.1231_1233delTAT	c.(1231-1233)tatdel	p.Y411del	MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_In_Frame_Del_p.Y411del			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	411	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGGAATTTCATAATAATAACCT	0.197																																					p.411_412del		Atlas-Indel	.											.	CACNA2D1	191	.	0			c.1232_1234del						PASS	.																																			SO:0001651	inframe_deletion	781	exon14			.	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1231_1233delTAT	7.37:g.81642822_81642824delATA	ENSP00000348589:p.Tyr411del	Somatic	416	0	0		WXS	Illumina HiSeq	Phase_I	524	54	0.103053	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	In_Frame_Del	DEL	ENST00000356253.5	37																																																																																				.	.	none		0.197	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				-	81642818	ATA	-	81642816	7	5	33	1	0	1	0	1	0	0	0	0	2548	224	8	0	2146	0	CACNA2D1	7	81642816	In_Frame_Del	DEL	ATA	TCGA-GS-A9TX-01A-11D-A382-10	7430997	81642816	77495847	25	23060										
MGC26647	219557	hgsc.bcm.edu	37	chr7	88424178	88424178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	aaagtgcaggtaattgctacGtgggacttggagaaaaagaa	13	4	0	2			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr7:88424178G>A	ENST00000297203.2	-	2	264	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	27										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAATTGCTACGTGGGACTTGG	0.418																																					p.R27C		Atlas-SNP	.											C7orf62,right_upper_lobe,carcinoma,0,2	C7orf62	63	2	0			c.C79T						scavenged	.																																			SO:0001583	missense	219557	exon2			TGCTACGTGGGAC	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.79C>T	7.37:g.88424178G>A	ENSP00000297203:p.Arg27Cys	Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	460	8	0.0173913	NM_152706		Missense_Mutation	SNP	ENST00000297203.2	37	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446869	0.84101	.	.	ENSG00000164645	ENST00000297203	T	0.23348	1.91	6.16	6.16	0.99307	.	0.149795	0.46758	D	0.000264	T	0.52933	0.1765	M	0.73598	2.24	0.50171	D	0.999855	D	0.89917	1.0	D	0.97110	1.0	T	0.51076	-0.8751	10	0.72032	D	0.01	-6.0823	16.3599	0.83257	0.0:0.0:1.0:0.0	.	27	Q8TBZ9	CG062_HUMAN	C	27	ENSP00000297203:R27C	ENSP00000297203:R27C	R	-	1	0	C7orf62	88262114	1.000000	0.71417	0.946000	0.38457	0.827000	0.46813	2.999000	0.49473	2.937000	0.99478	0.650000	0.86243	CGT	.	.	none		0.418	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		A	88424178	G	A	88424178	3	1	33	1	0	0	0	0	1	0	0	0	9550	1145	40	1	686	1	MGC26647	7	88424178	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	6781362	88424178	70714485	26	23061										
ZDHHC6	64429	hgsc.bcm.edu	37	chr10	114200386	114200386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	atgcagctaatccaaatggaAcaattggaagaggatctctc	9	8	1	1			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr10:114200386A>C	ENST00000369405.3	-	5	1010	c.587T>G	c.(586-588)gTt>gGt	p.V196G	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.V192G	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	196					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCCAAATGGAACAATTGGAAG	0.458																																					p.V196G		Atlas-SNP	.											.	ZDHHC6	32	.	0			c.T587G						PASS	.						172	155	161					10																	114200386		2203	4300	6503	SO:0001583	missense	64429	exon5			AATGGAACAATTG	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.587T>G	10.37:g.114200386A>C	ENSP00000358413:p.Val196Gly	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	96	17	0.177083	NM_022494	D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880428	0.72294	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.66815	0.51;-0.23	5.92	5.92	0.95590	.	0.364419	0.32343	N	0.006237	T	0.65291	0.2677	L	0.49699	1.58	0.80722	D	1	B;B	0.26672	0.156;0.029	B;B	0.32805	0.153;0.11	T	0.62011	-0.6944	10	0.38643	T	0.18	-12.459	16.3492	0.83195	1.0:0.0:0.0:0.0	.	192;196	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	G	196;192	ENSP00000358413:V196G;ENSP00000358412:V192G	ENSP00000358412:V192G	V	-	2	0	ZDHHC6	114190376	1.000000	0.71417	0.267000	0.24556	0.872000	0.50106	9.300000	0.96151	2.266000	0.75297	0.528000	0.53228	GTT	.	.	none		0.458	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		C	114200386	A	C	114200386	3	2	33	1	0	0	0	0	1	0	0	0	17616	43	2	5	682	5	ZDHHC6	10	114200386	Missense_Mutation	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10		114200386	21334361	27	23062										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092618	1092619	+	In_Frame_Ins	INS	-	-	CCA													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	caaccaccactcccagccctINSccaaccaccactcccagccc					rs201595190|rs201608750|rs547682241	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr11:1092618_1092619insCCA	ENST00000441003.2	+	30	4464_4465	c.4437_4438insCCA	c.(4438-4440)cca>CCAcca	p.1480_1480P>PP	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_In_Frame_Ins_p.1481_1481P>PP|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4215	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)	ctcccagccctccaaccaccac	0.639																																					p.P1479delinsPP		Atlas-Indel	.											.	MUC2	614	.	0			c.4437_4438insCCA						PASS	.																																			SO:0001652	inframe_insertion	4583	exon30			.	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.4438_4440dupCCA	11.37:g.1092619_1092621dupCCA	ENSP00000415183:p.Pro1480dup	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	58	19	0.327586	NM_002457	Q14878	In_Frame_Ins	INS	ENST00000441003.2	37																																																																																				.	.	none		0.639	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		CCA	1092619	-	CCA	1092618	7	5	33	1	0	1	1	0	0	0	0	0	9975	1538	54	0	4555	0	MUC2	11	1092618	In_Frame_Ins	INS	-	TCGA-GS-A9TX-01A-11D-A382-10		1092618	133913898	28	23063										
OR52I2	143502	hgsc.bcm.edu	37	chr11	4608393	4608393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	atggtgagcatcttctgctcAggagacagctcaatcagctt	10	10	5	2	rs56002758	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr11:4608393A>G	ENST00000312614.4	+	1	373	c.351A>G	c.(349-351)tcA>tcG	p.S117S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCAGGAGACAGCT	0.512													A|||	138	0.0275559	0.0915	0.0029	5008	,	,		24334	0.0109		0.0	False		,,,				2504	0.0041				p.S117S		Atlas-SNP	.											OR52I2,NS,carcinoma,0,1	OR52I2	50	1	0			c.A351G						scavenged	.						202	191	195					11																	4608393		2201	4298	6499	SO:0001819	synonymous_variant	143502	exon1			CTGCTCAGGAGAC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.351A>G	11.37:g.4608393A>G		Somatic	270	19	0.0703704		WXS	Illumina HiSeq	Phase_I	295	23	0.0779661	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																			A|0.972;G|0.028	0.028	strong		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		G	4608393	A	G	4608393	2	3	33	1	0	0	0	0	0	0	0	1	11121	175	7	3		3	OR52I2	11	4608393	Silent	SNP	A	TCGA-GS-A9TX-01A-11D-A382-10	3515775	4608393	130398123	29	23064										
FAT3	120114	hgsc.bcm.edu	37	chr11	92533495	92533495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	cattttatctgggaatgaccGgacgagctttctgatggaca	11	8	2	2	rs149993900		TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr11:92533495G>A	ENST00000298047.6	+	9	7333	c.7316G>A	c.(7315-7317)cGg>cAg	p.R2439Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R2439Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R2289Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2439	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAATGACCGGACGAGCTTT	0.493										TCGA Ovarian(4;0.039)			G|||	1	0.000199681	0.0	0.0	5008	,	,		21024	0.0		0.001	False		,,,				2504	0.0				p.R2439Q		Atlas-SNP	.											.	FAT3	1822	.	0			c.G7316A						PASS	.	G	GLN/ARG	0,3892		0,0,1946	94	90	91		7316	4.9	0.9	11	dbSNP_134	91	5,8277		0,5,4136	yes	missense	FAT3	NM_001008781.2	43	0,5,6082	AA,AG,GG		0.0604,0.0,0.0411	possibly-damaging	2439/4558	92533495	5,12169	1946	4141	6087	SO:0001583	missense	120114	exon9			ATGACCGGACGAG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7316G>A	11.37:g.92533495G>A	ENSP00000298047:p.Arg2439Gln	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	96	12	0.125	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.46	1.644572	0.29246	0.0	6.04E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51325	0.71;0.71;0.71	5.82	4.91	0.64330	.	.	.	.	.	T	0.36608	0.0973	N	0.04162	-0.26	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	T	0.20505	-1.0273	9	0.11182	T	0.66	.	14.4549	0.67409	0.0698:0.0:0.9302:0.0	.	2439	Q8TDW7-3	.	Q	2439;2439;2289	ENSP00000298047:R2439Q;ENSP00000387040:R2439Q;ENSP00000432586:R2289Q	ENSP00000298047:R2439Q	R	+	2	0	FAT3	92173143	1.000000	0.71417	0.925000	0.36789	0.967000	0.64934	5.115000	0.64655	1.468000	0.48064	0.561000	0.74099	CGG	G|1.000;A|0.000	0.000	strong		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92533495	G	A	92533495	3	1	33	1	0	0	0	0	1	0	0	0	5691	1116	39	1	7350	1	FAT3	11	92533495	Missense_Mutation	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10	87925102	92533495	42473021	30	23065										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3781324	3781326	+	In_Frame_Del	DEL	AGG	AGG	-													0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	ggaccacttggagcggcgcaAggaggagaactcccagtgct							TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr16:3781324_3781326delAGG	ENST00000262367.5	-	30	5848_5850	c.5039_5041delCCT	c.(5038-5043)tccttg>ttg	p.S1680del	CREBBP_ENST00000382070.3_In_Frame_Del_p.S1642del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1680	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1680delS(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGCGGCGCAAGGAGGAGAACTC	0.645			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.1680_1681del		Pindel,Atlas-Indel	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	1	Deletion - In frame(1)	large_intestine(1)	c.5040_5042del	GRCh37	CD084702	CREBBP	D		PASS	.																																			SO:0001651	inframe_deletion	1387	exon30			.	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5039_5041delCCT	16.37:g.3781327_3781329delAGG	ENSP00000262367:p.Ser1680del	Somatic	111	.	.		WXS	Illumina HiSeq	Phase_I	103	21	0.204	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	In_Frame_Del	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																			.	.	none		0.645	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		-	3781326	AGG	-	3781324	7	5	33	1	0	1	0	1	0	0	0	0	3861	69	3	0	2295	0	CREBBP	16	3781324	In_Frame_Del	DEL	AGG	TCGA-GS-A9TX-01A-11D-A382-10		3781324	86573429	31	23066										
LPCAT2	54947	hgsc.bcm.edu	37	chr16	55608567	55608567	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	atgatggcagcattgacttcCgagagtatgtgattggcctg	13	7	0	4			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr16:55608567C>T	ENST00000262134.5	+	12	1424	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	414	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CATTGACTTCCGAGAGTATGT	0.448																																					p.R414X		Atlas-SNP	.											.	LPCAT2	35	.	0			c.C1240T						PASS	.						169	131	144					16																	55608567		2198	4300	6498	SO:0001587	stop_gained	54947	exon12			GACTTCCGAGAGT	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1240C>T	16.37:g.55608567C>T	ENSP00000262134:p.Arg414*	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	179	21	0.117318	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	37	6.602750	0.97697	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.84	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8774	12.3155	0.54953	0.5722:0.4278:0.0:0.0	.	.	.	.	X	414	.	ENSP00000262134:R414X	R	+	1	2	LPCAT2	54166068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.870000	0.48451	1.463000	0.47967	0.655000	0.94253	CGA	.	.	none		0.448	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		T	55608567	C	T	55608567	4	4	33	1	0	0	0	0	0	1	0	0	8911	644	23	1	1286	1	LPCAT2	16	55608567	Nonsense_Mutation	SNP	C	TCGA-GS-A9TX-01A-11D-A382-10	51827243	55608567	34746186	32	23067										
CCDC144A	9720	hgsc.bcm.edu	37	chr17	16610838	16610838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	caagaaagacttaaaggatgCgaaaataagcagccacaggt	10	7	0	2			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr17:16610838C>T	ENST00000360524.8	+	4	796	c.720C>T	c.(718-720)tgC>tgT	p.C240C	CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.C240C|CCDC144A_ENST00000399273.1_Silent_p.C240C|CCDC144A_ENST00000340621.5_Silent_p.C239C|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000456009.1_Silent_p.C240C|CCDC144A_ENST00000443444.2_Silent_p.C240C	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	240								p.C240C(1)									TTAAAGGATGCGAAAATAAGC	0.348																																					p.C240C		Atlas-SNP	.											CCDC144B,colon,carcinoma,0,2	CCDC144A	53	2	1	Substitution - coding silent(1)	ovary(1)	c.C720T						scavenged	.						36	38	37					17																	16610838		1828	4078	5906	SO:0001819	synonymous_variant	9720	exon4			AGGATGCGAAAAT	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.720C>T	17.37:g.16610838C>T		Somatic	968	2	0.00206612		WXS	Illumina HiSeq	Phase_I	1054	13	0.012334	NM_014695	O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	1.236	-0.622772	0.03636	.	.	ENSG00000170160	ENST00000328495	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	.	3.7817	0.08683	0.0:0.2187:0.0:0.7813	.	.	.	.	V	4	.	.	A	+	2	0	CCDC144A	16551563	0.111000	0.22076	0.001000	0.08648	0.020000	0.10135	0.866000	0.27954	-0.038000	0.13624	-1.514000	0.00941	GCG	.	.	none		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			T	16610838	C	T	16610838	2	4	33	1	0	0	0	0	0	0	0	1	2777	776	27	1		1	CCDC144A	17	16610838	Silent	SNP	C	TCGA-GS-A9TX-01A-11D-A382-10		16610838	64584372	33	23068										
CDC27	996	hgsc.bcm.edu	37	chr17	45234727	45234727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	taaagatgtgaatttaaatgTttggtcaggatctggctttt	10	3	2	2			TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr17:45234727T>A	ENST00000066544.3	-	6	592	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CDC27_ENST00000527547.1_Missense_Mutation_p.T167S|CDC27_ENST00000531206.1_Missense_Mutation_p.T167S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.T106S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATTTAAATGTTTGGTCAGGA	0.368																																					p.T167S		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,+2,10	CDC27	337	10	0			c.A499T						scavenged	.						73	73	73					17																	45234727		2203	4300	6503	SO:0001583	missense	996	exon6			TAAATGTTTGGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.499A>T	17.37:g.45234727T>A	ENSP00000066544:p.Thr167Ser	Somatic	225	1	0.00444444		WXS	Illumina HiSeq	Phase_I	228	12	0.0526316	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623232	0.46840	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.25;0.04;-0.25;0.89	5.39	5.39	0.77823	.	0.119985	0.64402	D	0.000020	T	0.47192	0.1432	N	0.08118	0	0.39122	D	0.961682	P;P;P;B	0.38677	0.475;0.528;0.642;0.211	B;B;B;B	0.36092	0.049;0.217;0.204;0.067	T	0.59762	-0.7393	10	0.72032	D	0.01	-19.1215	13.3763	0.60741	0.0:0.0:0.0:1.0	.	106;167;167;167	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	167;167;106;167;167	ENSP00000066544:T167S;ENSP00000434614:T167S;ENSP00000392802:T106S;ENSP00000437339:T167S;ENSP00000432105:T167S	ENSP00000066544:T167S	T	-	1	0	CDC27	42589726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.053000	0.61076	0.528000	0.53228	ACA	.	.	none		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234727	T	A	45234727	3	1	33	1	0	0	0	0	1	0	0	0	3066	1725	60	5	2049	5	CDC27	17	45234727	Missense_Mutation	SNP	T	TCGA-GS-A9TX-01A-11D-A382-10	28623889	45234727	35960483	34	23069										
PREX1	57580	hgsc.bcm.edu	37	chr20	47262400	47262400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	gacacccacctgtaggagtcGcgataactcatggtgtcgtg	12	11	1	0	rs141398646	byFrequency	TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr20:47262400G>A	ENST00000371941.3	-	26	3523	c.3501C>T	c.(3499-3501)cgC>cgT	p.R1167R	PREX1_ENST00000396220.1_Silent_p.R1167R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1167					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTAGGAGTCGCGATAACTCA	0.602													g|||	2	0.000399361	0.0008	0.0	5008	,	,		22326	0.001		0.0	False		,,,				2504	0.0				p.R1167R		Atlas-SNP	.											.	PREX1	441	.	0			c.C3501T						PASS	.	A		7,4399	11.4+/-27.6	0,7,2196	125	86	99		3501	-9.6	0.5	20	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	PREX1	NM_020820.3		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		1167/1660	47262400	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	57580	exon26			GGAGTCGCGATAA	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3501C>T	20.37:g.47262400G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	54	12	0.222222	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																			G|0.999;A|0.001	0.001	strong		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47262400	G	A	47262400	2	1	33	1	0	0	0	0	0	0	0	1	12476	1074	38	1		1	PREX1	20	47262400	Silent	SNP	G	TCGA-GS-A9TX-01A-11D-A382-10		47262400	15763120	35	23070										
FAM118A	55007	hgsc.bcm.edu	37	chr22	45723920	45723920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.465	0	0.531428571428571	1	1	0	cagaacaagcccatggagtcCctggacttgaaggacaagac	11	11	0	3	rs111386114		TCGA-GS-A9TX-01A-11D-A382-10	TCGA-GS-A9TX-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c4c499f3-91c4-400e-9d4c-34cc4ba25efd	5d6e6d97-dba3-4087-ba36-3840e5b33520	g.chr22:45723920C>T	ENST00000216214.3	+	5	1332	c.498C>T	c.(496-498)tcC>tcT	p.S166S	FAM118A_ENST00000405673.1_Silent_p.S166S|FAM118A_ENST00000441876.2_Silent_p.S166S|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	166						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCATGGAGTCCCTGGACTTGA	0.617																																					p.S166S		Atlas-SNP	.											FAM118A,brain,glioma,0,1	FAM118A	32	1	0			c.C498T						scavenged	.						11	10	10					22																	45723920		2198	4293	6491	SO:0001819	synonymous_variant	55007	exon4			GGAGTCCCTGGAC	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.498C>T	22.37:g.45723920C>T		Somatic	50	9	0.18		WXS	Illumina HiSeq	Phase_I	43	18	0.418605	NM_017911	B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																			C|0.500;T|0.500	0.500	weak		0.617	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		T	45723920	C	T	45723920	2	4	33	1	0	0	0	0	0	0	0	1	5411	610	22	2		2	FAM118A	22	45723920	Silent	SNP	C	TCGA-GS-A9TX-01A-11D-A382-10		45723920	5580646	36	23071										
CHD5	26038	hgsc.bcm.edu	37	chr1	6208928	6208928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	actcacagtacagcgcgggcAgagccattcaccgtttggga	12	12	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:6208928A>T	ENST00000262450.3	-	9	1468	c.1369T>A	c.(1369-1371)Tgc>Agc	p.C457S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCGCGGGCAGAGCCATTCA	0.721																																					p.C457S		Atlas-SNP	.											.	CHD5	267	.	0			c.T1369A						PASS	.						49	55	53					1																	6208928		2202	4300	6502	SO:0001583	missense	26038	exon9			GCGGGCAGAGCCA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1369T>A	1.37:g.6208928A>T	ENSP00000262450:p.Cys457Ser	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	77	51	0.662338	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693706	0.88735	.	.	ENSG00000116254	ENST00000262450	D	0.99252	-5.63	3.56	3.56	0.40772	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Chromo domain-like (1);	0.000000	0.85682	U	0.000000	D	0.99521	0.9829	H	0.98682	4.3	0.80722	D	1	D	0.63046	0.992	P	0.57244	0.816	D	0.98206	1.0470	10	0.87932	D	0	-21.3112	12.1231	0.53903	1.0:0.0:0.0:0.0	.	457	Q8TDI0	CHD5_HUMAN	S	457	ENSP00000262450:C457S	ENSP00000262450:C457S	C	-	1	0	CHD5	6131515	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.355000	0.79434	1.410000	0.46936	0.260000	0.18958	TGC	.	.	none		0.721	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6208928	A	T	6208928	3	4	34	1	0	0	0	0	1	0	0	0	3328	188	7	5	4627	5	CHD5	1	6208928	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10		6208928	243041693	1	23072										
CHD5	26038	hgsc.bcm.edu	37	chr1	6208973	6208973	+	De_novo_Start_OutOfFrame	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gggcagcggcgggttgaggcAatgcaggtggtaggaggagg	23	5	0	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:6208973A>C	ENST00000378021.1	-	0	1423				CHD5_ENST00000262450.3_Missense_Mutation_p.C442G			O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGTTGAGGCAATGCAGGTGG	0.697																																					p.C442G		Atlas-SNP	.											.	CHD5	267	.	0			c.T1324G						PASS	.						49	52	51					1																	6208973		2201	4300	6501			26038	exon9			TGAGGCAATGCAG	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000378021.1:c.-2106T>G	1.37:g.6208973A>C		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	95	58	0.610526	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000378021.1	37		.	.	.	.	.	.	.	.	.	.	A	18.99	3.738941	0.69304	.	.	ENSG00000116254	ENST00000262450	D	0.99252	-5.63	3.56	3.56	0.40772	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Chromo domain-like (1);	0.000000	0.85682	U	0.000000	D	0.99687	0.9882	H	0.99609	4.655	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97244	0.9893	10	0.72032	D	0.01	-21.1597	12.1231	0.53903	1.0:0.0:0.0:0.0	.	442	Q8TDI0	CHD5_HUMAN	G	442	ENSP00000262450:C442G	ENSP00000262450:C442G	C	-	1	0	CHD5	6131560	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.157000	0.94714	1.410000	0.46936	0.260000	0.18958	TGC	.	.	none		0.697	CHD5-201	KNOWN	basic	protein_coding	protein_coding		NM_015557		C	6208973	A	C	6208973	1	2	34	1	0	1	0	0	0	0	0	0	3328	130	5	5		5	CHD5	1	6208973	De_novo_Start_OutOfFrame	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	45	6208973	243041648	2	23073										
UBR4	23352	hgsc.bcm.edu	37	chr1	19403339	19403339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gatgggcatgtcgttgtggcGgatgtactcagcgagagagc	17	7	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:19403339G>A	ENST00000375254.3	-	105	15409	c.15382C>T	c.(15382-15384)Cgc>Tgc	p.R5128C	RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375217.2_Missense_Mutation_p.R5121C|UBR4_ENST00000375267.2_Missense_Mutation_p.R5149C|UBR4_ENST00000429347.2_Missense_Mutation_p.R651C|UBR4_ENST00000375226.2_Missense_Mutation_p.R5104C|UBR4_ENST00000375225.3_Missense_Mutation_p.R203C|UBR4_ENST00000375224.1_Missense_Mutation_p.R835C|UBR4_ENST00000543981.1_Missense_Mutation_p.R792C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5128					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGTTGTGGCGGATGTACTCA	0.537																																					p.R5128C		Atlas-SNP	.											.	UBR4	415	.	0			c.C15382T						PASS	.						190	163	172					1																	19403339		2203	4300	6503	SO:0001583	missense	23352	exon105			TGTGGCGGATGTA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15382C>T	1.37:g.19403339G>A	ENSP00000364403:p.Arg5128Cys	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	97	22	0.226804	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598627	0.87055	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.993;0.995;0.988	T	0.66448	-0.5921	10	0.87932	D	0	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	792;651;5128;5104	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	C	5128;5149;5121;5104;203;835;651;792	ENSP00000364403:R5128C;ENSP00000364416:R5149C;ENSP00000364365:R5121C;ENSP00000364374:R5104C;ENSP00000364373:R203C;ENSP00000364372:R835C;ENSP00000394173:R651C;ENSP00000444070:R792C	ENSP00000364365:R5121C	R	-	1	0	UBR4	19275926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.323000	0.65858	2.793000	0.96121	0.655000	0.94253	CGC	.	.	none		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19403339	G	A	19403339	3	1	34	1	0	0	0	0	1	0	0	0	16901	1116	39	1	177	1	UBR4	1	19403339	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	13194366	19403339	229847282	3	23074										
PSMB2	5690	hgsc.bcm.edu	37	chr1	36101985	36101986	+	Frame_Shift_Del	DEL	AC	AC	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cagtgtctccagcctctccaAcacacaggagtaatatcttt					rs139138858		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:36101985_36101986delAC	ENST00000373237.3	-	2	550_551	c.139_140delGT	c.(139-141)gttfs	p.V47fs		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	AGCCTCTCCAACACACAGGAGT	0.381																																					p.47_47del		Pindel,Atlas-Indel	.											.	PSMB2	9	.	0			c.140_141del						PASS	.																																			SO:0001589	frameshift_variant	5690	exon2			.	D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"Proteasome (prosome, macropain) subunits"	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.139_140delGT	1.37:g.36101989_36101990delAC	ENSP00000362334:p.Val47fs	Somatic	247	.	.		WXS	Illumina HiSeq	Phase_I	181	54	0.298	NM_002794	D3DPS0|P31145|Q9BWZ9	Frame_Shift_Del	DEL	ENST00000373237.3	37	CCDS394.1																																																																																			.	.	none		0.381	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012016.1	NM_002794		-	36101986	AC	-	36101985	7	5	34	1	0	1	0	1	0	0	0	0	12677	43	2	0	485	0	PSMB2	1	36101985	Frame_Shift_Del	DEL	AC	TCGA-GS-A9TY-01A-11D-A38X-10	16698646	36101985	213148636	4	23075										
PDE4DIP	9659	hgsc.bcm.edu	37	chr1	145075675	145075675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctgcttcttcctcctcggccGctgctgcccagctcccggct	9	20	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:145075675G>A	ENST00000530740.1	-	1	226	c.188C>T	c.(187-189)gCg>gTg	p.A63V	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.A63V|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.A63V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A63V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCTCGGCCGCTGCTGCCCA	0.716			T	PDGFRB	MPD																																p.A63V		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.C188T						PASS	.						38	48	45					1																	145075675		2192	4281	6473	SO:0001583	missense	9659	exon1			TCGGCCGCTGCTG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.188C>T	1.37:g.145075675G>A	ENSP00000435654:p.Ala63Val	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	270	27	0.1	NM_022359	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37		.	.	.	.	.	.	.	.	.	.	G	9.842	1.191237	0.21954	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.15487	3.79;3.76;2.42	3.6	2.68	0.31781	.	.	.	.	.	T	0.04679	0.0127	N	0.24115	0.695	0.09310	N	1	D;P	0.65815	0.995;0.926	B;B	0.43155	0.41;0.117	T	0.23084	-1.0198	9	0.87932	D	0	.	6.8328	0.23919	0.1306:0.0:0.8694:0.0	.	63;63	Q5TB27;E9PJ64	.;.	V	63	ENSP00000435654:A63V;ENSP00000358366:A63V;ENSP00000358354:A63V	ENSP00000358351:A63V	A	-	2	0	PDE4DIP	143787032	0.056000	0.20664	0.012000	0.15200	0.095000	0.18619	0.881000	0.28173	0.849000	0.35215	0.561000	0.74099	GCG	.	.	none		0.716	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		A	145075675	G	A	145075675	3	1	34	1	0	0	0	0	1	0	0	0	11643	1087	38	1	8624	1	PDE4DIP	1	145075675	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	108973690	145075675	104174946	5	23076										
HRNR	388697	hgsc.bcm.edu	37	chr1	152187437	152187437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	11	10	1	6			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:152187437A>G	ENST00000368801.2	-	3	6743	c.6668T>C	c.(6667-6669)gTc>gCc	p.V2223A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2223					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.567																																					p.V2223A		Atlas-SNP	.											HRNR,NS,carcinoma,0,1	HRNR	403	1	0			c.T6668C						scavenged	.						2	1	1					1																	152187437		896	1896	2792	SO:0001583	missense	388697	exon3			CCAAAGACAGAAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6668T>C	1.37:g.152187437A>G	ENSP00000357791:p.Val2223Ala	Somatic	282	18	0.0638298		WXS	Illumina HiSeq	Phase_I	397	31	0.0780856	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	12.54	1.967822	0.34754	.	.	ENSG00000197915	ENST00000368801	T	0.15834	2.39	2.79	-1.81	0.07882	.	.	.	.	.	T	0.01905	0.0060	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	9	0.08381	T	0.77	.	0.7951	0.01065	0.1625:0.2182:0.3221:0.2972	.	2223	Q86YZ3	HORN_HUMAN	A	2223	ENSP00000357791:V2223A	ENSP00000357791:V2223A	V	-	2	0	HRNR	150454061	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.394000	0.07296	-0.638000	0.05509	-2.011000	0.00436	GTC	.	.	none		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152187437	A	G	152187437	3	3	34	1	0	0	0	0	1	0	0	0	7359	275	10	2	1888	2	HRNR	1	152187437	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	7111762	152187437	97063184	6	23077										
ARHGEF2	9181	hgsc.bcm.edu	37	chr1	155928159	155928159	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttttcctggagaaacaccagTacatctgtcatcagcagcac	7	12	3	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:155928159T>G	ENST00000361247.4	-	12	1596	c.1497A>C	c.(1495-1497)gtA>gtC	p.V499V	ARHGEF2_ENST00000368316.1_Silent_p.V471V|ARHGEF2_ENST00000368315.4_Silent_p.V500V|ARHGEF2_ENST00000462460.2_Silent_p.V544V|ARHGEF2_ENST00000313667.4_Silent_p.V498V|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Silent_p.V471V	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	499	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAACACCAGTACATCTGTCA	0.488																																					p.V499V	Melanoma(178;35 2768 6610 28839)	Atlas-SNP	.											.	ARHGEF2	81	.	0			c.A1497C						PASS	.						126	101	110					1																	155928159		2203	4300	6503	SO:0001819	synonymous_variant	9181	exon12			CACCAGTACATCT	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1497A>C	1.37:g.155928159T>G		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	106	25	0.235849	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																			.	.	none		0.488	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		G	155928159	T	G	155928159	2	3	34	1	0	0	0	0	0	0	0	1	903	1625	57	5		5	ARHGEF2	1	155928159	Silent	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	3740722	155928159	93322462	7	23078										
SMG5	23381	hgsc.bcm.edu	37	chr1	156221239	156221239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcttatgccgctcaaagctcTttcccacctctttctggcag	7	15	4	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:156221239T>C	ENST00000361813.5	-	20	2927	c.2783A>G	c.(2782-2784)aAg>aGg	p.K928R	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	928	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CTCAAAGCTCTTTCCCACCTC	0.557																																					p.K928R		Atlas-SNP	.											.	SMG5	98	.	0			c.A2783G						PASS	.						200	193	195					1																	156221239		2203	4300	6503	SO:0001583	missense	23381	exon20			AAGCTCTTTCCCA	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2783A>G	1.37:g.156221239T>C	ENSP00000355261:p.Lys928Arg	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	128	24	0.1875	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886395	0.33348	.	.	ENSG00000198952	ENST00000361813	T	0.29142	1.58	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.065325	0.64402	D	0.000017	T	0.05364	0.0142	N	0.04508	-0.205	0.80722	D	1	B	0.21381	0.055	B	0.19391	0.025	T	0.19582	-1.0301	10	0.08381	T	0.77	-14.5089	13.2101	0.59819	0.0:0.0:0.0:1.0	.	928	Q9UPR3	SMG5_HUMAN	R	928	ENSP00000355261:K928R	ENSP00000355261:K928R	K	-	2	0	SMG5	154487863	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.513000	0.45494	2.062000	0.61559	0.459000	0.35465	AAG	.	.	none		0.557	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		C	156221239	T	C	156221239	3	2	34	1	0	0	0	0	1	0	0	0	14796	1609	56	3	279	3	SMG5	1	156221239	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	293080	156221239	93029382	8	23079										
PEX19	5824	hgsc.bcm.edu	37	chr1	160252238	160252238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tggcatttttggctaatccaCttagtgtttcctttaggcaa	8	8	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:160252238C>T	ENST00000368072.5	-	4	422	c.401G>A	c.(400-402)aGt>aAt	p.S134N	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_Missense_Mutation_p.S44N|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	134					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTAATCCACTTAGTGTTTC	0.458																																					p.S134N		Atlas-SNP	.											.	PEX19	34	.	0			c.G401A						PASS	.						129	121	124					1																	160252238		2203	4300	6503	SO:0001583	missense	5824	exon4			AATCCACTTAGTG	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.401G>A	1.37:g.160252238C>T	ENSP00000357051:p.Ser134Asn	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	287	57	0.198606	NM_002857	D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712935	0.48517	.	.	ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	.	.	.	5.5	5.5	0.81552	.	0.261768	0.45361	D	0.000379	T	0.25901	0.0631	N	0.16743	0.435	0.37882	D	0.930421	B	0.02656	0.0	B	0.11329	0.006	T	0.07849	-1.0751	9	0.26408	T	0.33	-7.953	13.885	0.63704	0.0:0.8471:0.1528:0.0	.	134	P40855	PEX19_HUMAN	N	4;134;114;44;114	.	ENSP00000357051:S134N	S	-	2	0	RP11-574F21.3;PEX19	158518862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.956000	0.49129	2.584000	0.87258	0.563000	0.77884	AGT	.	.	none		0.458	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		T	160252238	C	T	160252238	3	4	34	1	0	0	0	0	1	0	0	0	11744	565	20	2	518	2	PEX19	1	160252238	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	4030999	160252238	88998383	9	23080										
PRG4	10216	hgsc.bcm.edu	37	chr1	186276268	186276291	+	In_Frame_Del	DEL	GAGCCTGCACCCACCACTCCCAAA	GAGCCTGCACCCACCACTCCCAAA	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agcctgcacccaccaccaagGagcctgcacccaccactccc					rs200031345|rs145095882|rs150525354|rs148782347|rs151267614|rs139523351|rs143141440|rs199919275|rs146673354|rs138528418	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	GAGCCTGCACCCACCACTCCCAAA	GAGCCTGCACCCACCACTCCCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:186276268_186276291delGAGCCTGCACCCACCACTCCCAAA	ENST00000445192.2	+	7	1462_1485	c.1417_1440delGAGCCTGCACCCACCACTCCCAAA	c.(1417-1440)gagcctgcacccaccactcccaaadel	p.EPAPTTPK473del	PRG4_ENST00000367483.4_In_Frame_Del_p.EPAPTTPK432del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.EPAPTTPK430del|PRG4_ENST00000367485.4_In_Frame_Del_p.EPAPTTPK380del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	473	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E473K(2)|p.P479delP(1)|p.K480K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGGAGCCTGCACCCACCACTCCCAAAGAGCCTGCAC	0.656																																					p.472_480del		Pindel	.											PRG4,NS,carcinoma,0,1	PRG4	259	1	4	Substitution - Missense(2)|Substitution - coding silent(1)|Deletion - In frame(1)	endometrium(2)|large_intestine(1)|prostate(1)	c.1416_1439del						PASS	.		,,,	544,3718		18,508,1605					,,,	-6.5	0			91	1331,6903		89,1153,2875	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	107,1661,4480	A1A1,A1R,RR		16.1647,12.764,15.0048	,,,	,,,		1875,10621				SO:0001651	inframe_deletion	10216	exon7			.	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1417_1440delGAGCCTGCACCCACCACTCCCAAA	1.37:g.186276268_186276291delGAGCCTGCACCCACCACTCCCAAA	ENSP00000399679:p.Glu473_Lys480del	Somatic	17	.	.		WXS	Illumina HiSeq	Phase_I	29	11	0.379	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																			.	.	none		0.656	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		-	186276291	GAGCCTGCACCCACCACTCCCAAA	-	186276268	7	5	34	1	0	1	0	1	0	0	0	0	12481	1175	41	0	1439	0	PRG4	1	186276268	In_Frame_Del	DEL	GAGCCTGCACCCACCACTCCCAAA	TCGA-GS-A9TY-01A-11D-A38X-10	26024030	186276268	62974353	10	23081										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274870	203274870	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcggggcgctccaggaggcaCtcacaggtgagcgcatgccg	17	13	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:203274870C>G	ENST00000290551.4	+	1	207	c.136C>G	c.(136-138)Ctc>Gtc	p.L46V	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	46					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCAGGAGGCACTCACAGGTGA	0.706																																					p.L46V		Atlas-SNP	.											.	BTG2	16	.	0			c.C136G						PASS	.						11	13	12					1																	203274870		2008	3922	5930	SO:0001583	missense	7832	exon1			GAGGCACTCACAG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.136C>G	1.37:g.203274870C>G	ENSP00000290551:p.Leu46Val	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	80	50	0.625	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996025	0.54147	.	.	ENSG00000159388	ENST00000290551	T	0.38077	1.16	4.4	3.48	0.39840	Anti-proliferative protein (3);	0.000000	0.51477	D	0.000083	T	0.59514	0.2199	M	0.91818	3.245	0.39613	D	0.969913	D	0.55800	0.973	P	0.61275	0.886	T	0.64841	-0.6312	10	0.87932	D	0	-5.3352	6.4668	0.21985	0.1795:0.7256:0.0:0.0949	.	46	P78543	BTG2_HUMAN	V	46	ENSP00000290551:L46V	ENSP00000290551:L46V	L	+	1	0	BTG2	201541493	0.941000	0.31946	0.225000	0.23894	0.595000	0.36748	0.961000	0.29267	1.064000	0.40671	0.471000	0.43371	CTC	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		G	203274870	C	G	203274870	3	3	34	1	0	0	0	0	1	0	0	0	1554	565	20	4	138	4	BTG2	1	203274870	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	16998602	203274870	45975751	11	23082										
SLC41A1	254428	hgsc.bcm.edu	37	chr1	205768918	205768918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccatgttcccagtgatcatcCgccagagctccttgggtgtg	11	13	1	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:205768918C>T	ENST00000367137.3	-	4	1535	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	174					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTGATCATCCGCCAGAGCTC	0.572																																					p.R174Q		Atlas-SNP	.											.	SLC41A1	46	.	0			c.G521A						PASS	.						129	98	109					1																	205768918		2203	4300	6503	SO:0001583	missense	254428	exon4			ATCATCCGCCAGA	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.521G>A	1.37:g.205768918C>T	ENSP00000356105:p.Arg174Gln	Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	167	38	0.227545	NM_173854	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539952	0.85917	.	.	ENSG00000133065	ENST00000367137	T	0.32753	1.44	5.99	4.9	0.64082	MgtE magnesium transporter, integral membrane (1);	0.213578	0.46145	D	0.000304	T	0.16769	0.0403	N	0.25286	0.73	0.34459	D	0.70156	B	0.33940	0.433	B	0.29862	0.108	T	0.14559	-1.0468	10	0.30854	T	0.27	-13.7793	6.4586	0.21944	0.0:0.6766:0.1902:0.1332	.	174	Q8IVJ1	S41A1_HUMAN	Q	174	ENSP00000356105:R174Q	ENSP00000356105:R174Q	R	-	2	0	SLC41A1	204035541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.886000	0.39688	2.843000	0.97960	0.655000	0.94253	CGG	.	.	none		0.572	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			T	205768918	C	T	205768918	3	4	34	1	0	0	0	0	1	0	0	0	14629	652	23	1	1052	1	SLC41A1	1	205768918	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	2494048	205768918	43481703	12	23083										
SPATA17	128153	hgsc.bcm.edu	37	chr1	217915347	217915347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gaggagtttgcagaaatgaaAgaaagagaagagaagaaggc	15	2	0	6			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:217915347A>T	ENST00000366933.4	+	6	481	c.426A>T	c.(424-426)aaA>aaT	p.K142N		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	142						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CAGAAATGAAAGAAAGAGAAG	0.393																																					p.K142N		Atlas-SNP	.											.	SPATA17	59	.	0			c.A426T						PASS	.						122	113	116					1																	217915347		2203	4300	6503	SO:0001583	missense	128153	exon6			AATGAAAGAAAGA	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.426A>T	1.37:g.217915347A>T	ENSP00000355900:p.Lys142Asn	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	34	0.918919	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308373	0.40895	.	.	ENSG00000162814	ENST00000366933	T	0.47869	0.83	5.84	2.25	0.28309	.	0.498628	0.23552	N	0.046960	T	0.34308	0.0893	L	0.41027	1.25	0.30875	N	0.732086	B	0.14438	0.01	B	0.14578	0.011	T	0.26052	-1.0114	10	0.40728	T	0.16	-9.0478	6.8947	0.24249	0.6022:0.0:0.3978:0.0	.	142	Q96L03	SPT17_HUMAN	N	142	ENSP00000355900:K142N	ENSP00000355900:K142N	K	+	3	2	SPATA17	215981970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.766000	0.26560	0.483000	0.27608	0.533000	0.62120	AAA	.	.	none		0.393	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		T	217915347	A	T	217915347	3	4	34	1	0	0	0	0	1	0	0	0	15001	69	3	5	448	5	SPATA17	1	217915347	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	12146429	217915347	31335274	13	23084										
OR2T2	401992	hgsc.bcm.edu	37	chr1	248616764	248616764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tctgtctcctacacgcacatCctcctgactgtccacaggat	6	16	2	1	rs376553658		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																					p.I222I		Atlas-SNP	.											OR2T2,NS,carcinoma,0,1	OR2T2	73	1	0			c.C666T						scavenged	.						182	125	144					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	401992	exon1			GCACATCCTCCTG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T		Somatic	187	5	0.026738		WXS	Illumina HiSeq	Phase_I	143	18	0.125874	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																			C|0.500;T|0.500	0.500	strong		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616764	C	T	248616764	2	4	34	1	0	0	0	0	0	0	0	1	11020	845	30	2		2	OR2T2	1	248616764	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	30701417	248616764	633857	14	23085										
OR14I1	401994	hgsc.bcm.edu	37	chr1	248845140	248845140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaacatgttgccagtgtggaCggctgcgtaggaaaagcagc	14	8	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr1:248845140C>T	ENST00000342623.3	-	1	489	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CCAGTGTGGACGGCTGCGTAG	0.547																																					p.V156I		Atlas-SNP	.											.	OR14I1	64	.	0			c.G466A						PASS	.						91	81	84					1																	248845140		2203	4300	6503	SO:0001583	missense	401994	exon1			TGTGGACGGCTGC		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.466G>A	1.37:g.248845140C>T	ENSP00000339726:p.Val156Ile	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	138	27	0.195652	NM_001004734		Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535424	0.27475	.	.	ENSG00000189181	ENST00000342623	T	0.37058	1.22	3.48	-2.84	0.05751	GPCR, rhodopsin-like superfamily (1);	0.376195	0.19197	N	0.120265	T	0.16085	0.0387	N	0.25201	0.72	0.09310	N	1	B	0.23937	0.094	B	0.22880	0.042	T	0.08229	-1.0732	10	0.32370	T	0.25	.	1.6843	0.02838	0.3234:0.2438:0.3194:0.1135	.	156	A6ND48	O14I1_HUMAN	I	156	ENSP00000339726:V156I	ENSP00000339726:V156I	V	-	1	0	OR14I1	246911763	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-3.169000	0.00574	-0.144000	0.11314	0.536000	0.68110	GTC	.	.	none		0.547	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		T	248845140	C	T	248845140	3	4	34	1	0	0	0	0	1	0	0	0	10947	536	19	1	473	1	OR14I1	1	248845140	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	228376	248845140	405481	15	23086										
CD8B	926	hgsc.bcm.edu	37	chr2	87085358	87085358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccgtggatagtcccttttgcGgaatcccagagggccaggaa	13	11	0	1	rs139740563		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:87085358G>A	ENST00000390655.6	-	2	283	c.225C>T	c.(223-225)tcC>tcT	p.S75S	CD8B_ENST00000393761.2_Silent_p.S75S|CD8B_ENST00000393759.2_Silent_p.S75S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Silent_p.S75S|CD8B_ENST00000349455.3_Silent_p.S75S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	75	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TCCCTTTTGCGGAATCCCAGA	0.547																																					p.S75S		Atlas-SNP	.											.	CD8B	37	.	0			c.C225T						PASS	.						111	100	103					2																	87085358		2203	4300	6503	SO:0001819	synonymous_variant	926	exon2			TTTTGCGGAATCC		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.225C>T	2.37:g.87085358G>A		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	331	69	0.208459	NM_004931	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			G|0.999;A|0.001	0.001	weak		0.547	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		A	87085358	G	A	87085358	2	1	34	1	0	0	0	0	0	0	0	1	3045	1103	39	1		1	CD8B	2	87085358	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		87085358	156114015	16	23087										
SMYD1	150572	hgsc.bcm.edu	37	chr2	88402591	88402591	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcccagccctctcaggaagtGgtgaaggagatgatacaatt	11	9	1	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:88402591G>T	ENST00000419482.2	+	7	988	c.903G>T	c.(901-903)gtG>gtT	p.V301V	SMYD1_ENST00000444564.2_Silent_p.V288V|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	301					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTCAGGAAGTGGTGAAGGAGA	0.428																																					p.V301V		Atlas-SNP	.											.	SMYD1	95	.	0			c.G903T						PASS	.						94	91	92					2																	88402591		2203	4300	6503	SO:0001819	synonymous_variant	150572	exon7			GGAAGTGGTGAAG	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.903G>T	2.37:g.88402591G>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	91	16	0.175824	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																			.	.	none		0.428	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		T	88402591	G	T	88402591	2	4	34	1	0	0	0	0	0	0	0	1	14821	1335	47	4		4	SMYD1	2	88402591	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	1317233	88402591	154796782	17	23088										
MARCO	8685	hgsc.bcm.edu	37	chr2	119739789	119739789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgcagtgggacacccaggtgCcaagggtgagcctggcagtg	17	10	0	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:119739789C>A	ENST00000327097.4	+	11	1094	c.959C>A	c.(958-960)gCc>gAc	p.A320D	MARCO_ENST00000541757.1_Missense_Mutation_p.A242D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	320	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CACCCAGGTGCCAAGGGTGAG	0.622																																					p.A320D	GBM(8;18 374 7467 11269 32796)	Atlas-SNP	.											MARCO,pharynx,carcinoma,-1,1	MARCO	120	1	0			c.C959A						PASS	.						67	72	70					2																	119739789		2203	4300	6503	SO:0001583	missense	8685	exon11			CAGGTGCCAAGGG	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.959C>A	2.37:g.119739789C>A	ENSP00000318916:p.Ala320Asp	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	71	17	0.239437	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023855	0.19433	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83837	-1.77;-1.77	4.66	3.78	0.43462	.	0.966899	0.08556	N	0.928317	T	0.74321	0.3701	N	0.17278	0.47	0.33498	D	0.589607	P	0.52316	0.952	P	0.46585	0.521	T	0.70908	-0.4744	9	.	.	.	.	8.2489	0.31706	0.0:0.893:0.0:0.107	.	320	Q9UEW3	MARCO_HUMAN	D	320;320;242	ENSP00000318916:A320D;ENSP00000441769:A242D	.	A	+	2	0	MARCO	119456259	0.592000	0.26832	0.971000	0.41717	0.539000	0.34962	1.088000	0.30877	1.188000	0.43014	0.462000	0.41574	GCC	.	.	none		0.622	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		A	119739789	C	A	119739789	3	1	34	1	0	0	0	0	1	0	0	0	9311	739	26	4	1001	4	MARCO	2	119739789	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	31337198	119739789	123459584	18	23089										
POTEF	728378	hgsc.bcm.edu	37	chr2	130877802	130877802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agcaccacttgcccatcttgTtcctgagtgtcttcatagca	7	13	3	1	rs574377005		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:130877802T>C	ENST00000409914.2	-	3	686	c.287A>G	c.(286-288)aAc>aGc	p.N96S	POTEF_ENST00000357462.5_Missense_Mutation_p.N96S|POTEF_ENST00000361163.4_Missense_Mutation_p.N96S|POTEF_ENST00000360967.5_Missense_Mutation_p.N96S	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCCCATCTTGTTCCTGAGTGT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		22288	0.0		0.0	False		,,,				2504	0.0				p.N96S		Atlas-SNP	.											POTEF,NS,carcinoma,0,6	POTEF	140	6	0			c.A287G						scavenged	.						105	129	120					2																	130877802		2203	4296	6499	SO:0001583	missense	728378	exon3			ATCTTGTTCCTGA	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.287A>G	2.37:g.130877802T>C	ENSP00000386786:p.Asn96Ser	Somatic	224	2	0.00892857		WXS	Illumina HiSeq	Phase_I	215	5	0.0232558	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.487228	0.00161	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.75154	-0.91;-0.91;1.92;1.97	0.562	-1.07	0.09968	.	.	.	.	.	T	0.28896	0.0717	N	0.00268	-1.735	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40270	-0.9572	8	0.02654	T	1	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	S	96	ENSP00000350052:N96S;ENSP00000386786:N96S;ENSP00000354232:N96S;ENSP00000355012:N96S	ENSP00000350052:N96S	N	-	2	0	POTEF	130594272	0.003000	0.15002	0.082000	0.20525	0.089000	0.18198	0.016000	0.13377	-0.316000	0.08690	0.063000	0.15292	AAC	.	.	none		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130877802	T	C	130877802	3	2	34	1	0	0	0	0	1	0	0	0	12265	1725	60	2	3000	2	POTEF	2	130877802	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	11138013	130877802	112321571	19	23090										
GLS	2744	hgsc.bcm.edu	37	chr2	191746033	191746033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcgcgcggggcctgtccagcTctccttcggagatcttgcag	13	14	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:191746033T>G	ENST00000320717.3	+	1	481	c.223T>G	c.(223-225)Tct>Gct	p.S75A	GLS_ENST00000338435.4_Missense_Mutation_p.S75A|AC005540.3_ENST00000413911.1_RNA	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	75					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ccTGTCCAGCTCTCCTTCGGA	0.806																																					p.S75A		Atlas-SNP	.											.	GLS	47	.	0			c.T223G						PASS	.						2	3	3					2																	191746033		1153	2110	3263	SO:0001583	missense	2744	exon1			TCCAGCTCTCCTT	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.223T>G	2.37:g.191746033T>G	ENSP00000317379:p.Ser75Ala	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	26	15	0.576923	NM_014905	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.549476	0.45383	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.46451	0.98;0.87	3.58	3.58	0.41010	.	0.391203	0.18719	U	0.133071	T	0.26955	0.0660	N	0.24115	0.695	0.80722	D	1	B;B;P	0.35872	0.013;0.023;0.525	B;B;B	0.35353	0.006;0.07;0.201	T	0.05886	-1.0858	10	0.36615	T	0.2	-7.0459	8.6962	0.34298	0.0:0.0:0.0:1.0	.	75;75;75	O94925;O94925-3;O94925-2	GLSK_HUMAN;.;.	A	75	ENSP00000317379:S75A;ENSP00000340689:S75A	ENSP00000317379:S75A	S	+	1	0	GLS	191454278	0.983000	0.35010	0.645000	0.29479	0.495000	0.33615	2.600000	0.46240	1.623000	0.50342	0.402000	0.26972	TCT	.	.	none		0.806	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			G	191746033	T	G	191746033	3	3	34	1	0	0	0	0	1	0	0	0	6463	1551	54	5	225	5	GLS	2	191746033	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	60868231	191746033	51453340	20	23091										
RAPH1	65059	hgsc.bcm.edu	37	chr2	204304543	204304543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gctatcattccgtttgggtcGtgtgggtggaggggccttct	16	8	2	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:204304543G>A	ENST00000319170.5	-	14	3669	c.3370C>T	c.(3370-3372)Cga>Tga	p.R1124*	RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R1176*|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1124					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTTGGGTCGTGTGGGTGGA	0.512																																					p.R1124X		Atlas-SNP	.											.	RAPH1	118	.	0			c.C3370T						PASS	.						119	106	110					2																	204304543		2203	4300	6503	SO:0001587	stop_gained	65059	exon14			TGGGTCGTGTGGG	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3370C>T	2.37:g.204304543G>A	ENSP00000316543:p.Arg1124*	Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	273	116	0.424908	NM_213589	Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	37	6.353621	0.97498	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	.	.	.	4.94	4.02	0.46733	.	0.000000	0.31721	U	0.007163	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2851	12.5109	0.56005	0.0:0.0:0.7007:0.2993	.	.	.	.	X	1124;1176	.	ENSP00000316543:R1124X	R	-	1	2	RAPH1	204012788	0.997000	0.39634	0.971000	0.41717	0.666000	0.39218	2.781000	0.47750	2.288000	0.76882	0.563000	0.77884	CGA	.	.	none		0.512	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		A	204304543	G	A	204304543	4	1	34	1	0	0	0	0	0	1	0	0	13050	1153	40	1	386	1	RAPH1	2	204304543	Nonsense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	12558510	204304543	38894830	21	23092										
RAPH1	65059	hgsc.bcm.edu	37	chr2	204305402	204305402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgttgcttgggtaatgttggCgggggtactggaacaggagg	19	4	0	0	rs144494517	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:204305402C>T	ENST00000319170.5	-	14	2810	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	RAPH1_ENST00000374493.3_Silent_p.P889P|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	837					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAATGTTGGCGGGGGTACTG	0.582													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		8603	0.0		0.001	False		,,,				2504	0.0				p.P837P		Atlas-SNP	.											.	RAPH1	118	.	0			c.G2511A						PASS	.	C		1,4403		0,1,2201	44	52	50		2511	-5.8	0	2	dbSNP_134	50	1,8599		0,1,4299	no	coding-synonymous	RAPH1	NM_213589.1		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		837/1251	204305402	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	65059	exon14			TGTTGGCGGGGGT	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2511G>A	2.37:g.204305402C>T		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	78	15	0.192308	NM_213589	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																			C|0.999;T|0.001	0.001	strong		0.582	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204305402	C	T	204305402	2	4	34	1	0	0	0	0	0	0	0	1	13050	755	27	1		1	RAPH1	2	204305402	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	859	204305402	38893971	22	23093										
CPS1	1373	hgsc.bcm.edu	37	chr2	211481148	211481148	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tctcttctcctcttggcaggCcattgatgacaacatgtccc	7	14	3	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:211481148C>A	ENST00000233072.5	+	21	2766	c.2570C>A	c.(2569-2571)gCc>gAc	p.A857D	CPS1_ENST00000430249.2_Splice_Site_p.A863D|CPS1_ENST00000451903.2_Splice_Site_p.A406D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	857					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCTTGGCAGGCCATTGATGAC	0.353																																					p.A863D		Atlas-SNP	.											.	CPS1	485	.	0			c.C2588A						PASS	.						151	148	149					2																	211481148		2203	4300	6503	SO:0001630	splice_region_variant	1373	exon22			GGCAGGCCATTGA	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2569-1C>A	2.37:g.211481148C>A		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	57	21	0.368421	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653451	0.67472	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.99070	-5.39;-5.39;-5.39	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.096332	0.64402	D	0.000001	D	0.99518	0.9828	H	0.97315	3.98	0.49051	D	0.999744	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	D	0.98128	1.0429	10	0.87932	D	0	-0.0201	15.0894	0.72180	0.0:0.8586:0.1414:0.0	.	867;857	Q59HF8;P31327	.;CPSM_HUMAN	D	863;865;857;406	ENSP00000402608:A863D;ENSP00000233072:A857D;ENSP00000406136:A406D	ENSP00000233072:A857D	A	+	2	0	CPS1	211189393	1.000000	0.71417	0.981000	0.43875	0.626000	0.37791	7.198000	0.77823	2.686000	0.91538	0.655000	0.94253	GCC	.	.	none		0.353	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	A	211481148	C	A	211481148	5	1	34	1	0	0	0	0	0	0	1	0	3823	753	26	4	2674	4	CPS1	2	211481148	Splice_Site	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	7175746	211481148	31718225	23	23094										
XRCC5	7520	hgsc.bcm.edu	37	chr2	216983663	216983769	+	Splice_Site	DEL	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	taatcacatttattaactctAgatccatttctaagcttctc					rs55885859|rs201183966|rs560904622|rs181615100|rs375440774|rs575986003		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:216983663_216983769delAGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	ENST00000392133.3	+	7	829_833	c.368_372delAGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	c.(367-372)aagatc>a	p.KI123fs	XRCC5_ENST00000392132.2_Splice_Site_p.KI123fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	123					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TATTAACTCTAGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGAAAGAAGTTTG	0.322								Non-homologous end-joining																													p.123_124del		Pindel	.											.	XRCC5	64	.	0			c.369_371del						PASS	.																																			SO:0001630	splice_region_variant	7520	exon5			.	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.369-1AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA>-	2.37:g.216983663_216983769delAGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA		Somatic	178	.	.		WXS	Illumina HiSeq	Phase_I	136	37	0.272	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	In_Frame_Del	DEL	ENST00000392133.3	37	CCDS2402.1																																																																																			.	.	none		0.322	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	Frame_Shift_Del	-	216983769	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	-	216983663	8	5	34	1	0	1	0	1	0	0	1	0	17453	435	15	0		0	XRCC5	2	216983663	Splice_Site	DEL	AGATCCATTTCTAAGCTTCTCTCCTCAGTGACCAAGTGTATTTGAATTTGTAGAAAAATAATTCAGGAGAATGATTTCTTAATATGATAACTCTCTCTTTTAGAGGA	TCGA-GS-A9TY-01A-11D-A38X-10	5502515	216983663	26215710	24	23095										
XRCC5	7520	hgsc.bcm.edu	37	chr2	216983862	216983862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	attataattcatagcttgaaGaaatgtgacatctccctgca	6	8	2	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:216983862G>C	ENST00000392133.3	+	7	926	c.465G>C	c.(463-465)aaG>aaC	p.K155N	XRCC5_ENST00000392132.2_Missense_Mutation_p.K155N			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	155	Leucine-zipper.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATAGCTTGAAGAAATGTGACA	0.368								Non-homologous end-joining																													p.K155N		Atlas-SNP	.											.	XRCC5	64	.	0			c.G465C						PASS	.						72	74	73					2																	216983862		2203	4300	6503	SO:0001583	missense	7520	exon5			CTTGAAGAAATGT	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.465G>C	2.37:g.216983862G>C	ENSP00000375978:p.Lys155Asn	Somatic	243	1	0.00411523		WXS	Illumina HiSeq	Phase_I	222	99	0.445946	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763741	0.69878	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.34859	1.34;1.34	5.38	5.38	0.77491	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.64997	1.995	0.58432	D	0.999992	D	0.71674	0.998	D	0.64506	0.926	T	0.34650	-0.9820	10	0.23302	T	0.38	.	11.6821	0.51463	0.0793:0.0:0.9207:0.0	.	155	P13010	XRCC5_HUMAN	N	155	ENSP00000375978:K155N;ENSP00000375977:K155N	ENSP00000375977:K155N	K	+	3	2	XRCC5	216692107	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	2.124000	0.42006	2.793000	0.96121	0.655000	0.94253	AAG	.	.	none		0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		C	216983862	G	C	216983862	3	2	34	1	0	0	0	0	1	0	0	0	17453	933	33	4	483	4	XRCC5	2	216983862	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	199	216983862	26215511	25	23096										
CCDC108	255101	hgsc.bcm.edu	37	chr2	219883882	219883883	+	Frame_Shift_Ins	INS	-	-	G													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agccttaaaggggtgaggacINSgggggggatctggctcatgc					rs568903495|rs189561241	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:219883882_219883883insG	ENST00000341552.5	-	21	3575_3576	c.3492_3493insC	c.(3490-3495)cccgtcfs	p.V1165fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.V1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.V1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1165						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATCT	0.614																																					p.V1165fs		Pindel,Atlas-Indel	.											.	CCDC108	208	.	0			c.3493_3494insC						PASS	.			4,4248		0,4,2122						-2.8	0			53	5,8229		0,5,4112	no	frameshift	CCDC108	NM_194302.2		0,9,6234	A1A1,A1R,RR		0.0607,0.0941,0.0721				9,12477				SO:0001589	frameshift_variant	255101	exon21			.	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3493dupC	2.37:g.219883889_219883889dupG	ENSP00000340776:p.Val1165fs	Somatic	91	.	.		WXS	Illumina HiSeq	Phase_I	94	30	0.319	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	CCDS2430.2																																																																																			.	.	none		0.614	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		G	219883883	-	G	219883882	7	5	34	1	0	1	1	0	0	0	0	0	2743	536	19	0	2344	0	CCDC108	2	219883882	Frame_Shift_Ins	INS	-	TCGA-GS-A9TY-01A-11D-A38X-10	2900020	219883882	23315491	26	23097										
DIS3L2	129563	hgsc.bcm.edu	37	chr2	233001289	233001289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaatacgccctgttttctccCtcagaccaccgagtgcctag	7	15	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:233001289C>T	ENST00000360410.4	+	9	1145	c.869C>T	c.(868-870)cCt>cTt	p.P290L	DIS3L2_ENST00000273009.6_Silent_p.P270P|DIS3L2_ENST00000325385.7_Silent_p.P270P|DIS3L2_ENST00000409307.1_Silent_p.P270P					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGTTTTCTCCCTCAGACCACC	0.483																																					p.P270P		Atlas-SNP	.											.	DIS3L2	77	.	0			c.C810T						PASS	.						196	181	186					2																	233001289		1890	4127	6017	SO:0001583	missense	129563	exon8			TTCTCCCTCAGAC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000360410.4:c.869C>T	2.37:g.233001289C>T	ENSP00000353584:p.Pro290Leu	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	160	61	0.38125	NM_152383		Silent	SNP	ENST00000360410.4	37		.	.	.	.	.	.	.	.	.	.	C	18.38	3.611078	0.66558	.	.	ENSG00000144535	ENST00000360410	T	0.41758	0.99	6.07	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	.	.	.	0.36177	D	0.849142	.	.	.	.	.	.	T	0.58346	-0.7652	7	0.87932	D	0	-18.9098	8.845	0.35164	0.0:0.5387:0.0:0.4613	.	.	.	.	L	290	ENSP00000353584:P290L	ENSP00000353584:P290L	P	+	2	0	DIS3L2	232709533	0.559000	0.26562	0.999000	0.59377	0.998000	0.95712	-0.207000	0.09384	0.234000	0.21139	0.585000	0.79938	CCT	.	.	none		0.483	DIS3L2-202	KNOWN	basic	protein_coding	protein_coding		NM_152383		T	233001289	C	T	233001289	3	4	34	1	0	0	0	0	1	0	0	0	4537	668	24	2	836	2	DIS3L2	2	233001289	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	13117407	233001289	10198084	27	23098										
NGEF	25791	hgsc.bcm.edu	37	chr2	233759514	233759514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cgttggagaagaggatgtgcGcctcggacgggtgcaggatc	18	8	0	2	rs183477550	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr2:233759514G>A	ENST00000264051.3	-	6	1219	c.941C>T	c.(940-942)gCg>gTg	p.A314V	NGEF_ENST00000409079.1_Missense_Mutation_p.A222V|NGEF_ENST00000373552.4_Missense_Mutation_p.A222V|NGEF_ENST00000539537.1_Missense_Mutation_p.A37V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	314	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGATGTGCGCCTCGGACGG	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17319	0.001		0.0	False		,,,				2504	0.0				p.A314V		Atlas-SNP	.											.	NGEF	198	.	0			c.C941T						PASS	.						110	94	100					2																	233759514		2203	4299	6502	SO:0001583	missense	25791	exon6			ATGTGCGCCTCGG	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.941C>T	2.37:g.233759514G>A	ENSP00000264051:p.Ala314Val	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	115	12	0.104348	NM_019850	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.58	2.279274	0.40294	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.479329	0.23496	N	0.047544	T	0.27524	0.0676	N	0.03608	-0.345	0.29453	N	0.858306	B;B;P	0.34800	0.045;0.044;0.469	B;B;B	0.19148	0.013;0.021;0.024	T	0.14364	-1.0475	10	0.18276	T	0.48	-26.6423	12.1758	0.54184	0.078:0.0:0.922:0.0	.	222;222;314	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	V	314;222;204;37;37;37;222	ENSP00000264051:A314V;ENSP00000362653:A222V;ENSP00000439035:A37V;ENSP00000401063:A37V;ENSP00000412614:A37V;ENSP00000387033:A222V	ENSP00000264051:A314V	A	-	2	0	NGEF	233467758	0.424000	0.25490	0.940000	0.37924	0.791000	0.44710	2.309000	0.43699	2.440000	0.82611	0.655000	0.94253	GCG	G|1.000;A|0.000	0.000	strong		0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233759514	G	A	233759514	3	1	34	1	0	0	0	0	1	0	0	0	10394	1087	38	1	1231	1	NGEF	2	233759514	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	758225	233759514	9439859	28	23099										
TRNT1	51095	hgsc.bcm.edu	37	chr3	3182323	3182323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gagatctcactataaattctAtgtttttaggtaatatttgc	6	5	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr3:3182323A>C	ENST00000251607.6	+	4	574	c.472A>C	c.(472-474)Atg>Ctg	p.M158L	TRNT1_ENST00000280591.6_Missense_Mutation_p.M158L	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	158					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TATAAATTCTATGTTTTTAGG	0.368																																					p.M158L		Atlas-SNP	.											.	TRNT1	34	.	0			c.A472C						PASS	.						75	77	76					3																	3182323		2203	4300	6503	SO:0001583	missense	51095	exon4			AATTCTATGTTTT	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.472A>C	3.37:g.3182323A>C	ENSP00000251607:p.Met158Leu	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	149	32	0.214765	NM_182916	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	37	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670644	0.67814	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.31247	1.53;1.5	5.71	5.71	0.89125	Poly A polymerase, head domain (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	N	0.17248	0.465	0.80722	D	1	B;B	0.18461	0.007;0.028	B;B	0.28385	0.028;0.089	T	0.05419	-1.0886	10	0.06099	T	0.92	0.0631	15.9869	0.80160	1.0:0.0:0.0:0.0	.	158;158	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	L	158	ENSP00000251607:M158L;ENSP00000280591:M158L	ENSP00000251607:M158L	M	+	1	0	TRNT1	3157323	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.125000	0.94402	2.171000	0.68590	0.533000	0.62120	ATG	.	.	none		0.368	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			C	3182323	A	C	3182323	3	2	34	1	0	0	0	0	1	0	0	0	16570	449	16	5	482	5	TRNT1	3	3182323	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10		3182323	194840107	29	23100										
QARS	5859	hgsc.bcm.edu	37	chr3	49136098	49136098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcccacaggctggccccaagCcaggcgcttaaatcctggct	11	16	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr3:49136098C>A	ENST00000306125.6	-	20	2228	c.1891G>T	c.(1891-1893)Gct>Tct	p.A631S	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.A620S			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	631					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGCCCCAAGCCAGGCGCTTA	0.582																																					p.A631S		Atlas-SNP	.											.	QARS	55	.	0			c.G1891T						PASS	.						17	19	18					3																	49136098		2202	4299	6501	SO:0001583	missense	5859	exon20			CCCAAGCCAGGCG	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1891G>T	3.37:g.49136098C>A	ENSP00000307567:p.Ala631Ser	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	58	14	0.241379	NM_005051	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992316	0.35131	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.25250	1.81;1.81	5.74	3.95	0.45737	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.052310	0.85682	D	0.000000	T	0.21227	0.0511	L	0.46567	1.45	0.80722	D	1	B;B	0.27997	0.197;0.197	B;B	0.26614	0.071;0.071	T	0.04537	-1.0944	10	0.38643	T	0.18	-7.9256	8.9136	0.35568	0.0:0.7747:0.0:0.2253	.	620;631	B4DWJ2;P47897	.;SYQ_HUMAN	S	151;631;620	ENSP00000307567:A631S;ENSP00000390015:A620S	ENSP00000307567:A631S	A	-	1	0	QARS	49111102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.822000	0.48073	1.429000	0.47314	0.561000	0.74099	GCT	.	.	none		0.582	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		A	49136098	C	A	49136098	3	1	34	1	0	0	0	0	1	0	0	0	12871	739	26	4	456	4	QARS	3	49136098	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	45953775	49136098	148886332	30	23101										
PBRM1	55193	hgsc.bcm.edu	37	chr3	52712591	52712591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tatagtctcggatggtattaTagagttcatggcacacggca	11	7	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr3:52712591T>C	ENST00000296302.7	-	2	162	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	PBRM1_ENST00000337303.4_Missense_Mutation_p.Y54C|PBRM1_ENST00000356770.4_Missense_Mutation_p.Y54C|PBRM1_ENST00000409114.3_Missense_Mutation_p.Y54C|PBRM1_ENST00000409057.1_Missense_Mutation_p.Y54C|PBRM1_ENST00000410007.1_Missense_Mutation_p.Y54C|PBRM1_ENST00000394830.3_Missense_Mutation_p.Y54C|PBRM1_ENST00000409767.1_Missense_Mutation_p.Y54C			Q86U86	PB1_HUMAN	polybromo 1	54					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GATGGTATTATAGAGTTCATG	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.Y54C		Atlas-SNP	.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252	.	0			c.A161G						PASS	.						122	110	114					3																	52712591		2203	4300	6503	SO:0001583	missense	55193	exon3			GTATTATAGAGTT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.161A>G	3.37:g.52712591T>C	ENSP00000296302:p.Tyr54Cys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	91	54	0.593407	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	19.44	3.827120	0.71143	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	T;T;T;T;T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.2	5.2	0.72013	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.992;0.999;0.992;0.969;0.99;0.997;0.974;1.0	T	0.63620	-0.6596	10	0.87932	D	0	.	15.0658	0.71992	0.0:0.0:0.0:1.0	.	54;54;54;54;54;54;54;54	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	C	54	ENSP00000349213:Y54C;ENSP00000378307:Y54C;ENSP00000296302:Y54C;ENSP00000338302:Y54C;ENSP00000386593:Y54C;ENSP00000386529:Y54C;ENSP00000386643:Y54C;ENSP00000386601:Y54C;ENSP00000387775:Y54C;ENSP00000409939:Y54C;ENSP00000389390:Y54C;ENSP00000412401:Y54C;ENSP00000416851:Y54C	ENSP00000296302:Y54C	Y	-	2	0	PBRM1	52687631	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.598000	0.54038	1.968000	0.57251	0.377000	0.23210	TAT	.	.	none		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52712591	T	C	52712591	3	2	34	1	0	0	0	0	1	0	0	0	11491	1406	49	2	4855	2	PBRM1	3	52712591	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	3576493	52712591	145309839	31	23102										
MSL2	55167	hgsc.bcm.edu	37	chr3	135871364	135871364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aagaacagtcaactgcttctAttatatcccgtgccagtgta	7	10	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr3:135871364A>G	ENST00000309993.2	-	2	1091	c.359T>C	c.(358-360)aTa>aCa	p.I120T	MSL2_ENST00000434835.2_Missense_Mutation_p.I46T	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	120					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AACTGCTTCTATTATATCCCG	0.378																																					p.I120T		Atlas-SNP	.											.	MSL2	63	.	0			c.T359C						PASS	.						168	157	161					3																	135871364		2203	4300	6503	SO:0001583	missense	55167	exon2			GCTTCTATTATAT	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.359T>C	3.37:g.135871364A>G	ENSP00000311827:p.Ile120Thr	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	148	62	0.418919	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	A	3.117	-0.181422	0.06340	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050;ENST00000473093	.	.	.	6.17	5.01	0.66863	.	0.114979	0.64402	D	0.000013	T	0.37679	0.1012	N	0.24115	0.695	0.35088	D	0.764059	B	0.10296	0.003	B	0.09377	0.004	T	0.40701	-0.9549	9	0.29301	T	0.29	-11.1528	11.7296	0.51728	0.9316:0.0:0.0683:0.0	.	120	Q9HCI7	MSL2_HUMAN	T	120;46;46;46;46	.	ENSP00000311827:I120T	I	-	2	0	MSL2	137354054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.691000	0.61738	1.146000	0.42352	0.533000	0.62120	ATA	.	.	none		0.378	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		G	135871364	A	G	135871364	3	3	34	1	0	0	0	0	1	0	0	0	9878	449	16	2	1378	2	MSL2	3	135871364	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	83158773	135871364	62151066	32	23103										
KCNMB3	5290	hgsc.bcm.edu	37	chr3	178957851	178957851	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctctgcagtctgtaacatcaCgctgtttattaaaaaaaaaa	5	8	3	0	rs3914675		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr3:178957851C>T	ENST00000263967.3	+	0	9063				RP11-245C23.3_ENST00000609807.1_RNA|KCNMB3_ENST00000486944.1_5'UTR|KCNMB3_ENST00000497599.1_Splice_Site_p.R152H	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R152H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGTAACATCACGCTGTTTATT	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R152H	Colon(199;1504 1750 3362 26421 31210 32040)	Atlas-SNP	.		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	KCNMB3_ENST00000497599,NS,carcinoma,0,1	KCNMB3	46	1	1	Substitution - Missense(1)	endometrium(1)	c.G455A						scavenged	.						180	136	149					3																	178957851		692	1591	2283	SO:0001624	3_prime_UTR_variant	27094	exon4			ACATCACGCTGTT		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.*5699C>T	3.37:g.178957851C>T		Somatic	329	1	0.00303951		WXS	Illumina HiSeq	Phase_I	269	8	0.0297398	NM_001163677	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	9.687	1.150899	0.21371	.	.	ENSG00000171121	ENST00000497599	T	0.09350	2.99	4.49	-3.14	0.05250	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.20703	N	0.999861	B	0.10296	0.003	B	0.06405	0.002	T	0.38929	-0.9638	9	0.87932	D	0	.	6.3342	0.21287	0.146:0.2228:0.0:0.6313	rs3914675	152	E9PER5	.	H	152	ENSP00000417091:R152H	ENSP00000417091:R152H	R	-	2	0	KCNMB3	180440545	0.984000	0.35163	0.009000	0.14445	0.978000	0.69477	0.180000	0.16860	-0.586000	0.05898	-0.459000	0.05422	CGT	C|0.998;T|0.002	0.002	weak		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178957851	C	T	178957851	1	4	34	0	1	0	0	0	0	0	0	0	8076	550	19	1		1	KCNMB3	3	178957851	3'UTR	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	43086487	178957851	19064579	33	23104										
HS3ST1	9957	hgsc.bcm.edu	37	chr4	11401388	11401388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ggacctcgttctccgcggccGccacgtcggggtgcaggctg	16	15	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:11401388G>A	ENST00000002596.5	-	2	1416	c.242C>T	c.(241-243)gCg>gTg	p.A81V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	81					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CTCCGCGGCCGCCACGTCGGG	0.657																																					p.A81V		Atlas-SNP	.											.	HS3ST1	41	.	0			c.C242T						PASS	.						61	52	55					4																	11401388		2203	4300	6503	SO:0001583	missense	9957	exon2			GCGGCCGCCACGT	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.242C>T	4.37:g.11401388G>A	ENSP00000002596:p.Ala81Val	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	64	28	0.4375	NM_005114	B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096989	0.56075	.	.	ENSG00000002587	ENST00000002596;ENST00000514690;ENST00000510712	T;T;T	0.55234	0.53;0.53;0.53	5.81	5.81	0.92471	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	N	0.20610	0.595	0.80722	D	1	P	0.52692	0.955	P	0.44394	0.448	T	0.18840	-1.0324	10	0.13853	T	0.58	.	19.0707	0.93134	0.0:0.0:1.0:0.0	.	81	O14792	HS3S1_HUMAN	V	81	ENSP00000002596:A81V;ENSP00000425673:A81V;ENSP00000422629:A81V	ENSP00000002596:A81V	A	-	2	0	HS3ST1	11010486	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.006000	0.88564	2.746000	0.94184	0.655000	0.94253	GCG	.	.	none		0.657	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		A	11401388	G	A	11401388	3	1	34	1	0	0	0	0	1	0	0	0	7363	1087	38	1	685	1	HS3ST1	4	11401388	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		11401388	179752888	34	23105										
PHOX2B	8929	hgsc.bcm.edu	37	chr4	41748171	41748171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gggggtggggttgggattggGacctgggcccccagtgctgt	21	8	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:41748171G>A	ENST00000226382.2	-	3	957	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	200					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TTGGGATTGGGACCTGGGCCC	0.731			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.P200S		Atlas-SNP	.	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	PHOX2B	53	.	0			c.C598T						PASS	.						44	43	43					4																	41748171		2203	4300	6503	SO:0001583	missense	8929	exon3	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GATTGGGACCTGG	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.598C>T	4.37:g.41748171G>A	ENSP00000226382:p.Pro200Ser	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	46	25	0.543478	NM_003924	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	7.728	0.698662	0.15106	.	.	ENSG00000109132	ENST00000226382	D	0.90563	-2.69	4.69	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.19112	0.55	0.42186	D	0.991702	B	0.26935	0.164	B	0.19946	0.027	T	0.71768	-0.4493	10	0.30078	T	0.28	.	4.8021	0.13301	0.0832:0.1498:0.6123:0.1547	.	200	Q99453	PHX2B_HUMAN	S	200	ENSP00000226382:P200S	ENSP00000226382:P200S	P	-	1	0	PHOX2B	41442928	1.000000	0.71417	0.114000	0.21550	0.004000	0.04260	6.516000	0.73755	1.173000	0.42796	-0.165000	0.13383	CCC	.	.	none		0.731	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			A	41748171	G	A	41748171	3	1	34	1	0	0	0	0	1	0	0	0	11859	1174	41	2	350	2	PHOX2B	4	41748171	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	30346783	41748171	149406105	35	23106										
CXCL5	6374	hgsc.bcm.edu	37	chr4	74863788	74863788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcttctggatcaagacaaatTtccttcccgttcttcaggga	8	11	4	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:74863788T>C	ENST00000296027.4	-	3	464	c.267A>G	c.(265-267)gaA>gaG	p.E89E		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	89					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)			CAAGACAAATTTCCTTCCCGT	0.428																																					p.E89E		Atlas-SNP	.											CXCL5,NS,carcinoma,-2,1	CXCL5	15	1	0			c.A267G						scavenged	.						84	92	89					4																	74863788		2203	4300	6503	SO:0001819	synonymous_variant	6374	exon3			ACAAATTTCCTTC	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.267A>G	4.37:g.74863788T>C		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	171	3	0.0175439	NM_002994	Q96QE1	Silent	SNP	ENST00000296027.4	37	CCDS34006.1																																																																																			.	.	none		0.428	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		C	74863788	T	C	74863788	2	2	34	1	0	0	0	0	0	0	0	1	4087	1838	64	2		2	CXCL5	4	74863788	Silent	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	33115617	74863788	116290488	36	23107										
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga					rs367717407|rs373805744	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	DSPP_ENST00000399271.1_Silent_p.S1088S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.T3264C						scavenged	.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	6	3	0.5		WXS	Illumina HiSeq	Phase_I	28	19	0.678571	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537078	T	C	88537078	2	2	34	1	0	0	0	0	0	0	0	1	4782	1693	59	2		2	DSPP	4	88537078	Silent	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	13673290	88537078	102617198	37	23108	474	2								
DSPP	1834	hgsc.bcm.edu	37	chr4	88537081	88537081	+	Silent	SNP	C	C	T													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gaaagcagtgatagcagtgaCagcagcaatagcagtgacag					rs367717407|rs370267258	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		Atlas-SNP	.											.	DSPP	174	.	0			c.C3267T						PASS	.	C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	20	11	0.55	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	34	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88537081	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	3	88537081	102617195	38	23109	474	2								
CLGN	1047	hgsc.bcm.edu	37	chr4	141313740	141313740	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aggaaatccattttctttacCtttacttttcttggccaaca	4	10	2	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:141313740C>T	ENST00000325617.5	-	12	1931	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	CLGN_ENST00000414773.1_Splice_Site_p.K497K|CLGN_ENST00000537281.1_Splice_Site_p.K497K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	497					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTTTCTTTACCTTTACTTTTC	0.343																																					p.K497K		Atlas-SNP	.											.	CLGN	76	.	0			c.G1491A						PASS	.						60	58	59					4																	141313740		2203	4300	6503	SO:0001630	splice_region_variant	1047	exon13			CTTTACCTTTACT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1491+1G>A	4.37:g.141313740C>T		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	170	26	0.152941	NM_001130675	B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	CCDS3751.1																																																																																			.	.	none		0.343	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	Silent	T	141313740	C	T	141313740	5	4	34	1	0	0	0	0	0	0	1	0	3524	695	24	2	357	2	CLGN	4	141313740	Splice_Site	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	52776659	141313740	49840536	39	23110										
DDX60	55601	hgsc.bcm.edu	37	chr4	169212958	169212958	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agtgatgactctagcacaagCtctttgagaaagaggcagat	11	7	2	5			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr4:169212958C>G	ENST00000393743.3	-	8	1273	c.982G>C	c.(982-984)Gct>Cct	p.A328P		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	328					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTAGCACAAGCTCTTTGAGAA	0.388																																					p.A328P		Atlas-SNP	.											.	DDX60	304	.	0			c.G982C						PASS	.						97	97	97					4																	169212958		2203	4300	6503	SO:0001583	missense	55601	exon8			CACAAGCTCTTTG	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.982G>C	4.37:g.169212958C>G	ENSP00000377344:p.Ala328Pro	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	91	40	0.43956	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969121	0.53614	.	.	ENSG00000137628	ENST00000393743	T	0.23348	1.91	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000012	T	0.51210	0.1661	M	0.75264	2.295	0.39673	D	0.970785	D	0.89917	1.0	D	0.79108	0.992	T	0.56220	-0.8015	10	0.59425	D	0.04	.	15.7864	0.78306	0.0:1.0:0.0:0.0	.	328	Q8IY21	DDX60_HUMAN	P	328	ENSP00000377344:A328P	ENSP00000377344:A328P	A	-	1	0	DDX60	169449533	1.000000	0.71417	0.997000	0.53966	0.192000	0.23643	3.850000	0.55918	2.510000	0.84645	0.563000	0.77884	GCT	.	.	none		0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		G	169212958	C	G	169212958	3	3	34	1	0	0	0	0	1	0	0	0	4378	797	28	4	4280	4	DDX60	4	169212958	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	27899218	169212958	21941318	40	23111										
SDHA	6389	hgsc.bcm.edu	37	chr5	236617	236617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ggggaggccgcctgtgcctcGgtacatggtgccaaccgcct	15	14	0	0	rs200223188	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000504309.1_Silent_p.S445S|SDHA_ENST00000510361.1_Silent_p.S397S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial Paragangliomas				G|||	2	0.000399361	0.0015	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0				p.S445S		Atlas-SNP	.											SDHA,NS,carcinoma,0,1	SDHA	80	1	1	Substitution - coding silent(1)	breast(1)	c.G1335T						scavenged	.						73	67	69					5																	236617		2203	4300	6503	SO:0001819	synonymous_variant	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCTCGGTACAT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1335G>T	5.37:g.236617G>T		Somatic	210	4	0.0190476		WXS	Illumina HiSeq	Phase_I	267	49	0.183521	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	CCDS3853.1																																																																																			A|0.002;G|0.988;T|0.011	0.011	strong		0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	236617	G	T	236617	2	4	34	1	0	0	0	0	0	0	0	1	13963	1103	39	4		4	SDHA	5	236617	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		236617	180678643	41	23112										
MYO10	4651	hgsc.bcm.edu	37	chr5	16762224	16762225	+	Splice_Site	INS	-	-	A													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cacataaaagtggttattctINSaaaaaaaaaaaaaaaaaaaa							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:16762224_16762225insA	ENST00000513610.1	-	16	2042		c.e16-2			NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTGGTTATTCTaaaaaaaaaaa	0.292																																					.		Atlas-Indel	.											.	MYO10	198	.	0			c.1588-2->T						PASS	.																																			SO:0001630	splice_region_variant	4651	exon17			.	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1588-2->T	5.37:g.16762235_16762235dupA		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	186	17	0.0913979	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Splice_Site	INS	ENST00000513610.1	37	CCDS54834.1																																																																																			.	.	none		0.292	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	Intron	A	16762225	-	A	16762224	8	5	34	1	0	1	1	0	0	0	1	0	10062	1536	53	0	4694	0	MYO10	5	16762224	Splice_Site	INS	-	TCGA-GS-A9TY-01A-11D-A38X-10	16525607	16762224	164153036	42	23113										
FST	10468	hgsc.bcm.edu	37	chr5	52778714	52778714	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccttgtctcttcacagctggGaactgctggctccgtcaagc	10	14	3	0	rs201482393	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:52778714G>C	ENST00000256759.3	+	2	473	c.90G>C	c.(88-90)ggG>ggC	p.G30G	FST_ENST00000396947.3_Silent_p.G30G	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	30	TB.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TCACAGCTGGGAACTGCTGGC	0.652											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G30G		Atlas-SNP	.											.	FST	42	.	0			c.G90C						PASS	.						39	37	38					5																	52778714		2203	4300	6503	SO:0001819	synonymous_variant	10468	exon2			AGCTGGGAACTGC	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.90G>C	5.37:g.52778714G>C		Somatic	150	0	0	987	WXS	Illumina HiSeq	Phase_I	127	34	0.267717	NM_013409	B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	CCDS3959.1																																																																																			G|1.000;T|0.000	.	alt		0.652	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		C	52778714	G	C	52778714	2	2	34	1	0	0	0	0	0	0	0	1	6076	1161	41	4		4	FST	5	52778714	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	36016490	52778714	128136546	43	23114										
SKIV2L2	23517	hgsc.bcm.edu	37	chr5	54635973	54635973	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttgatgactggtgatgttacTattaatcctacggcatcttg	9	7	1	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:54635973T>G	ENST00000230640.5	+	6	905	c.651T>G	c.(649-651)acT>acG	p.T217T	SKIV2L2_ENST00000545714.1_Silent_p.T116T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	217	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTGATGTTACTATTAATCCTA	0.348																																					p.T217T	Melanoma(2;92 134 23744 29976 33782)	Atlas-SNP	.											.	SKIV2L2	104	.	0			c.T651G						PASS	.						173	171	172					5																	54635973		2203	4300	6503	SO:0001819	synonymous_variant	23517	exon6			TGTTACTATTAAT	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.651T>G	5.37:g.54635973T>G		Somatic	209	1	0.00478469		WXS	Illumina HiSeq	Phase_I	202	99	0.490099	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																			.	.	none		0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			G	54635973	T	G	54635973	2	3	34	1	0	0	0	0	0	0	0	1	14360	1509	53	5		5	SKIV2L2	5	54635973	Silent	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	1857259	54635973	126279287	44	23115										
TRIM23	373	hgsc.bcm.edu	37	chr5	64905170	64905170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgagccaaatcaatttttcaCgaacatgagcatcaacaaca	5	10	3	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:64905170C>T	ENST00000231524.9	-	6	1315	c.944G>A	c.(943-945)cGt>cAt	p.R315H	TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.R315H|TRIM23_ENST00000381018.3_Missense_Mutation_p.R315H	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	315					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CAATTTTTCACGAACATGAGC	0.418																																					p.R315H		Atlas-SNP	.											.	TRIM23	73	.	0			c.G944A						PASS	.						121	111	114					5																	64905170		2203	4300	6503	SO:0001583	missense	373	exon6			TTTTCACGAACAT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.944G>A	5.37:g.64905170C>T	ENSP00000231524:p.Arg315His	Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	265	82	0.309434	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101218	0.94245	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.75367	-0.84;-0.84;-0.93	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.85178	0.1002	10	0.54805	T	0.06	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	315;315;315	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	H	315	ENSP00000231524:R315H;ENSP00000370406:R315H;ENSP00000274327:R315H	ENSP00000231524:R315H	R	-	2	0	TRIM23	64940926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.685000	0.91497	0.655000	0.94253	CGT	.	.	none		0.418	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		T	64905170	C	T	64905170	3	4	34	1	0	0	0	0	1	0	0	0	16494	536	19	1	871	1	TRIM23	5	64905170	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	10269197	64905170	116010090	45	23116										
MAST4	375449	hgsc.bcm.edu	37	chr5	66350237	66350237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctttctttttgatagttgccGaacaagcaaccggaaaagct	8	9	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:66350237G>A	ENST00000403625.2	+	5	975	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	MAST4_ENST00000490016.2_Missense_Mutation_p.R38Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R33Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R38Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R45Q|MAST4_ENST00000404260.3_Missense_Mutation_p.R227Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	227						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R227Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATAGTTGCCGAACAAGCAAC	0.423																																					p.R227Q		Atlas-SNP	.											MAST4_ENST00000404260,rectum,carcinoma,0,1	MAST4	218	1	1	Substitution - Missense(1)	large_intestine(1)	c.G680A						PASS	.						72	68	69					5																	66350237		1883	4100	5983	SO:0001583	missense	375449	exon5			GTTGCCGAACAAG	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.680G>A	5.37:g.66350237G>A	ENSP00000385727:p.Arg227Gln	Somatic	194	1	0.00515464		WXS	Illumina HiSeq	Phase_I	140	117	0.835714	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288148	0.95517	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000432426;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T	0.74106	-0.32;-0.32;1.26;-0.79;-0.81;-0.65	5.77	5.77	0.91146	.	0.225364	0.25089	U	0.033232	D	0.86012	0.5831	M	0.69358	2.11	0.32854	D	0.507104	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.991	D;D;D;D;P	0.78314	0.941;0.987;0.973;0.991;0.716	D	0.88093	0.2814	10	0.72032	D	0.01	-4.4909	19.9894	0.97361	0.0:0.0:1.0:0.0	.	45;227;33;38;38	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	Q	227;227;38;38;45;18;45;33;33;33	ENSP00000385048:R227Q;ENSP00000385727:R227Q;ENSP00000421739:R38Q;ENSP00000384313:R38Q;ENSP00000384099:R45Q;ENSP00000261569:R33Q	ENSP00000261569:R33Q	R	+	2	0	MAST4	66385993	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.398000	0.90195	2.726000	0.93360	0.561000	0.74099	CGA	.	.	none		0.423	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66350237	G	A	66350237	3	1	34	1	0	0	0	0	1	0	0	0	9327	1058	37	1	828	1	MAST4	5	66350237	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	1445067	66350237	114565023	46	23117										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71495764	71495764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cccacagacaaaactgtcacGtacaaacacatggacccacc	5	16	1	1	rs368060624		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:71495764G>A	ENST00000296755.7	+	5	6880	c.6582G>A	c.(6580-6582)acG>acA	p.T2194T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2194					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAACTGTCACGTACAAACACA	0.587																																					p.T2194T	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.G6582A						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	142	128	133		6582	-11.9	0.1	5		133	0,8600		0,0,4300	no	coding-synonymous	MAP1B	NM_005909.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2194/2469	71495764	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4131	exon5			TGTCACGTACAAA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6582G>A	5.37:g.71495764G>A		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	56	23	0.410714	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																			.	.	weak		0.587	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71495764	G	A	71495764	2	1	34	1	0	0	0	0	0	0	0	1	9228	1132	40	1		1	MAP1B	5	71495764	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	5145527	71495764	109419496	47	23118										
ZNF608	57507	hgsc.bcm.edu	37	chr5	124080282	124080282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cttggacttcctgcctcttgCcagtgctgctgatctcggga	11	13	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:124080282C>T	ENST00000306315.5	-	1	836	c.401G>A	c.(400-402)gGc>gAc	p.G134D	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	134							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527																																					p.G134D		Atlas-SNP	.											.	ZNF608	117	.	0			c.G401A						PASS	.						71	70	71					5																	124080282		2203	4300	6503	SO:0001583	missense	57507	exon1			CTCTTGCCAGTGC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.401G>A	5.37:g.124080282C>T	ENSP00000307746:p.Gly134Asp	Somatic	124	1	0.00806452		WXS	Illumina HiSeq	Phase_I	131	112	0.854962	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152626	0.57259	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.55052	0.54	5.33	4.46	0.54185	.	0.287027	0.30446	N	0.009608	T	0.44244	0.1284	L	0.48642	1.525	0.80722	D	1	B	0.16802	0.019	B	0.19946	0.027	T	0.34825	-0.9813	10	0.37606	T	0.19	-16.5901	9.4407	0.38666	0.0:0.7796:0.1439:0.0765	.	134	Q9ULD9	ZN608_HUMAN	D	134	ENSP00000307746:G134D	ENSP00000307746:G134D	G	-	2	0	ZNF608	124108181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.891000	0.48617	1.381000	0.46364	0.655000	0.94253	GGC	.	.	none		0.527	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		T	124080282	C	T	124080282	3	4	34	1	0	0	0	0	1	0	0	0	18031	739	26	2	4173	2	ZNF608	5	124080282	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	52584518	124080282	56834978	48	23119										
RGS14	10636	hgsc.bcm.edu	37	chr5	176795190	176795190	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctgcaaacgccgccttgcgcCgagagtctcagggctccctc	11	17	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr5:176795190C>T	ENST00000408923.3	+	8	960	c.772C>T	c.(772-774)Cga>Tga	p.R258*		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	258					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCTTGCGCCGAGAGTCTCA	0.632																																					p.R258X	NSCLC(47;353 1896 28036)	Atlas-SNP	.											.	RGS14	34	.	0			c.C772T						PASS	.						56	61	60					5																	176795190		2014	4168	6182	SO:0001587	stop_gained	10636	exon8			TTGCGCCGAGAGT	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.772C>T	5.37:g.176795190C>T	ENSP00000386229:p.Arg258*	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	65	10	0.153846	NM_006480	O43565|Q506M1|Q6ZWA4|Q8TD62	Nonsense_Mutation	SNP	ENST00000408923.3	37	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607138	0.87157	.	.	ENSG00000169220	ENST00000408923	.	.	.	4.14	1.12	0.20585	.	0.072462	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6275	13.4062	0.60915	0.5852:0.4148:0.0:0.0	.	.	.	.	X	258	.	ENSP00000386229:R258X	R	+	1	2	RGS14	176727796	0.164000	0.22935	0.937000	0.37676	0.925000	0.55904	-0.314000	0.08092	0.010000	0.14839	0.491000	0.48974	CGA	.	.	none		0.632	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		T	176795190	C	T	176795190	4	4	34	1	0	0	0	0	0	1	0	0	13297	644	23	1	802	1	RGS14	5	176795190	Nonsense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	52714908	176795190	4120070	49	23120										
RREB1	6239	hgsc.bcm.edu	37	chr6	7230225	7230225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gccttcatgacagcgcccggCggcaagaagacgcccgccat	12	16	1	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:7230225C>T	ENST00000349384.6	+	10	2207	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RREB1_ENST00000379938.2_Silent_p.G631G|RREB1_ENST00000379933.3_Silent_p.G631G|RREB1_ENST00000334984.6_Silent_p.G631G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	631					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCGCCCGGCGGCAAGAAGA	0.637																																					p.G631G		Atlas-SNP	.											.	RREB1	242	.	0			c.C1893T						PASS	.						21	23	22					6																	7230225		2202	4297	6499	SO:0001819	synonymous_variant	6239	exon10			GCCCGGCGGCAAG	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1893C>T	6.37:g.7230225C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	68	41	0.602941	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																			.	.	none		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230225	C	T	7230225	2	4	34	1	0	0	0	0	0	0	0	1	13679	755	27	1		1	RREB1	6	7230225	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		7230225	163884842	50	23121										
ALDH5A1	7915	hgsc.bcm.edu	37	chr6	24522996	24523012	+	Splice_Site	DEL	CTTGTGTTTGCTCAAAC	CTTGTGTTTGCTCAAAC	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtttttgtctcctgtccagaCttgtgtttgctcaaaccaat					rs551402692		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	CTTGTGTTTGCTCAAAC	CTTGTGTTTGCTCAAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:24522996_24523012delCTTGTGTTTGCTCAAAC	ENST00000357578.3	+	7	1161_1177	c.1016_1032delCTTGTGTTTGCTCAAAC	c.(1015-1032)acttgtgtttgctcaaac>a	p.TCVCSN339fs	ALDH5A1_ENST00000546278.1_Splice_Site_p.TCVCSN251fs|ALDH5A1_ENST00000348925.2_Splice_Site_p.TCVCSN352fs|ALDH5A1_ENST00000491546.1_Splice_Site_p.TCVCSN311fs	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	339					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CCTGTCCAGACTTGTGTTTGCTCAAACCAATTCTTGG	0.493																																					p.352_357del		Pindel,Atlas-Indel	.											.	ALDH5A1	42	.	0			c.1054_1070del						PASS	.																																			SO:0001630	splice_region_variant	7915	exon8			.	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1015-1CTTGTGTTTGCTCAAAC>-	6.37:g.24522996_24523012delCTTGTGTTTGCTCAAAC		Somatic	179	.	.		WXS	Illumina HiSeq	Phase_I	108	30	0.278	NM_170740	B2RD26|G5E949|Q546H9|Q8N3W6	Frame_Shift_Del	DEL	ENST00000357578.3	37	CCDS4555.1																																																																																			.	.	none		0.493	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		Frame_Shift_Del	-	24523012	CTTGTGTTTGCTCAAAC	-	24522996	8	5	34	1	0	1	0	1	0	0	1	0	502	579	20	0	1085	0	ALDH5A1	6	24522996	Splice_Site	DEL	CTTGTGTTTGCTCAAAC	TCGA-GS-A9TY-01A-11D-A38X-10	17292771	24522996	146592071	51	23122										
HIST1H2BJ	8970	hgsc.bcm.edu	37	chr6	27100189	27100219	+	Frame_Shift_Del	DEL	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tggtgacggccttagtacccTcggacacggcgtgcttggcc					rs2272811|rs145874703	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:27100189_27100219delTCGGACACGGCGTGCTTGGCCAACTCCCCAG	ENST00000607124.1	-	1	310_340	c.311_341delCTGGGGAGTTGGCCAAGCACGCCGTGTCCGA	c.(310-342)cctggggagttggccaagcacgccgtgtccgagfs	p.PGELAKHAVSE104fs	HIST1H2BJ_ENST00000339812.2_Frame_Shift_Del_p.PGELAKHAVSE104fs|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Frame_Shift_Del_p.PGELAKHAVSE104fs			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	104					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114K(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTTAGTACCCTCGGACACGGCGTGCTTGGCCAACTCCCCAGGCAGCAGCAG	0.584																																					p.104_114del		Pindel	.											HIST1H2BJ,NS,malignant_melanoma,-2,3	HIST1H2BJ	21	3	1	Substitution - Missense(1)	breast(1)	c.312_342del						PASS	.																																			SO:0001589	frameshift_variant	8970	exon1			.	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.311_341delCTGGGGAGTTGGCCAAGCACGCCGTGTCCGA	6.37:g.27100189_27100219delTCGGACACGGCGTGCTTGGCCAACTCCCCAG	ENSP00000476136:p.Pro104fs	Somatic	99	.	.		WXS	Illumina HiSeq	Phase_I	72	13	0.181	NM_021058	B2R4J4|O60816	Frame_Shift_Del	DEL	ENST00000607124.1	37	CCDS4618.1																																																																																			.	.	none		0.584	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		-	27100219	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	-	27100189	7	5	34	1	0	1	0	1	0	0	0	0	7149	1551	54	0	43	0	HIST1H2BJ	6	27100189	Frame_Shift_Del	DEL	TCGGACACGGCGTGCTTGGCCAACTCCCCAG	TCGA-GS-A9TY-01A-11D-A38X-10	2577193	27100189	144014878	52	23123										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138571	37138571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaggagaaggagcccctggaGtcgcagtaccaggtgggccc	16	11	0	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:37138571G>A	ENST00000373509.5	+	2	478	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	126					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGCCCCTGGAGTCGCAGTACC	0.711			T	BCL6	NHL																																p.E126E		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G378A						PASS	.						21	31	28					6																	37138571		2163	4266	6429	SO:0001819	synonymous_variant	5292	exon2			CCTGGAGTCGCAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.105G>A	6.37:g.37138571G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	75	19	0.253333	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.711	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138571	G	A	37138571	2	1	34	1	0	0	0	0	0	0	0	1	11927	1020	36	2		2	PIM1	6	37138571	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	10038382	37138571	133976496	53	23124										
PIM1	5292	hgsc.bcm.edu	37	chr6	37139092	37139092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gccctgcaagaggagctggcCcgcagcttcttctggcaggt	14	13	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:37139092C>T	ENST00000373509.5	+	4	805	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Y -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGGAGCTGGCCCGCAGCTTCT	0.612			T	BCL6	NHL																																p.A235A		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C705T						PASS	.						54	65	61					6																	37139092		2203	4300	6503	SO:0001819	synonymous_variant	5292	exon4			GCTGGCCCGCAGC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.432C>T	6.37:g.37139092C>T		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	129	27	0.209302	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.612	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37139092	C	T	37139092	2	4	34	1	0	0	0	0	0	0	0	1	11927	610	22	2		2	PIM1	6	37139092	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	521	37139092	133975975	54	23125										
COL21A1	81578	hgsc.bcm.edu	37	chr6	55939040	55939040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcatatttaccttagatcccGgtgttccaggctggcctggt	10	11	1	1	rs368711091	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:55939040G>T	ENST00000244728.5	-	20	2352	c.1955C>A	c.(1954-1956)cCg>cAg	p.P652Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.P649Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.P652Q|COL21A1_ENST00000370808.2_Missense_Mutation_p.P52Q|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	652					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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTAGATCCCGGTGTTCCAGG	0.328																																					p.P652Q		Atlas-SNP	.											.	COL21A1	201	.	0			c.C1955A						PASS	.						87	86	86					6																	55939040		1810	4063	5873	SO:0001583	missense	81578	exon20			GATCCCGGTGTTC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1955C>A	6.37:g.55939040G>T	ENSP00000244728:p.Pro652Gln	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	204	69	0.338235	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585584	0.28268	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.98684	-5.07;-4.1;-5.07;-5.07	4.56	3.66	0.41972	.	0.246146	0.28161	N	0.016380	D	0.97673	0.9237	M	0.66506	2.035	0.26532	N	0.974238	B;B;D	0.69078	0.102;0.062;0.997	B;B;P	0.59703	0.031;0.014;0.862	D	0.94533	0.7738	10	0.42905	T	0.14	.	9.9388	0.41567	0.0:0.0:0.7963:0.2037	.	52;652;652	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	Q	652;649;652;649;52	ENSP00000244728:P652Q;ENSP00000359855:P649Q;ENSP00000444384:P652Q;ENSP00000359844:P52Q	ENSP00000244728:P652Q	P	-	2	0	COL21A1	56046999	0.999000	0.42202	0.516000	0.27786	0.808000	0.45660	2.261000	0.43276	0.962000	0.38057	0.655000	0.94253	CCG	.	.	alt		0.328	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	55939040	G	T	55939040	3	4	34	1	0	0	0	0	1	0	0	0	3680	1116	39	4	962	4	COL21A1	6	55939040	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	18799948	55939040	115176027	55	23126										
DST	667	hgsc.bcm.edu	37	chr6	56505292	56505292	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctgagtttaaactttgagtGattcctgatatcatgagctt	8	7	1	5			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:56505292G>A	ENST00000361203.3	-	14	1513	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	DST_ENST00000446842.2_Silent_p.I176I|DST_ENST00000312431.6_Silent_p.I502I|DST_ENST00000370765.6_Silent_p.I176I|DST_ENST00000370769.4_Silent_p.I502I|DST_ENST00000518935.1_Silent_p.I176I|DST_ENST00000370754.5_Silent_p.I680I|DST_ENST00000421834.2_Silent_p.I502I|DST_ENST00000370788.2_Silent_p.I502I|DST_ENST00000244364.6_Silent_p.I176I			Q03001	DYST_HUMAN	dystonin	502					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTTGAGTGATTCCTGATA	0.438																																					p.I176I		Atlas-SNP	.											DST_ENST00000370769,NS,carcinoma,0,5	DST	1427	5	0			c.C528T						scavenged	.						122	122	122					6																	56505292		2203	4300	6503	SO:0001819	synonymous_variant	667	exon4			TTGAGTGATTCCT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1506C>T	6.37:g.56505292G>A		Somatic	331	1	0.00302115		WXS	Illumina HiSeq	Phase_I	527	145	0.275142	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																				.	.	none		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56505292	G	A	56505292	2	1	34	1	0	0	0	0	0	0	0	1	4783	1280	45	2		2	DST	6	56505292	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	566252	56505292	114609775	56	23127										
ZNF292	23036	hgsc.bcm.edu	37	chr6	87969497	87969497	+	Frame_Shift_Del	DEL	T	T	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cttgtagaaaaaaaaagtccTgacaaaacagaaagttcttt							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:87969497delT	ENST00000369577.3	+	8	6193	c.6150delT	c.(6148-6150)cctfs	p.P2050fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.P2045fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2050						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAAAAGTCCTGACAAAACAG	0.373																																					p.P2050fs		Pindel	.											.	ZNF292	479	.	0			c.6149delC						PASS	.						31	28	29					6																	87969497		1804	4065	5869	SO:0001589	frameshift_variant	23036	exon8			.	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6150delT	6.37:g.87969497delT	ENSP00000358590:p.Pro2050fs	Somatic	247	.	.		WXS	Illumina HiSeq	Phase_I	152	64	0.421	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	CCDS47457.1																																																																																			.	.	none		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		-	87969497	T	-	87969497	7	5	34	1	0	1	0	1	0	0	0	0	17823	1567	55	0	6180	0	ZNF292	6	87969497	Frame_Shift_Del	DEL	T	TCGA-GS-A9TY-01A-11D-A38X-10	31464205	87969497	83145570	57	23128										
SMPD2	6610	hgsc.bcm.edu	37	chr6	109764547	109764547	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctcacaggggcacccccctCtctgatcatgaagccctgat	8	17	3	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:109764547C>T	ENST00000258052.3	+	9	1166	c.807C>T	c.(805-807)ctC>ctT	p.L269L	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	269					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GCACCCCCCTCTCTGATCATG	0.542																																					p.L269L		Atlas-SNP	.											.	SMPD2	25	.	0			c.C807T						PASS	.						77	81	80					6																	109764547		2203	4300	6503	SO:0001819	synonymous_variant	6610	exon9			CCCCCTCTCTGAT	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.807C>T	6.37:g.109764547C>T		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	94	69	0.734043	NM_003080	Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	C	3.719	-0.057929	0.07317	.	.	ENSG00000135587	ENST00000458487	.	.	.	5.95	0.892	0.19230	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17440	-1.0369	4	.	.	.	-6.5899	1.8071	0.03083	0.1417:0.4848:0.1377:0.2358	.	.	.	.	F	166	.	.	S	+	2	0	SMPD2	109871240	0.987000	0.35691	0.922000	0.36590	0.668000	0.39293	0.475000	0.22164	0.089000	0.17243	-0.136000	0.14681	TCT	.	.	none		0.542	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			T	109764547	C	T	109764547	2	4	34	1	0	0	0	0	0	0	0	1	14805	900	32	2		2	SMPD2	6	109764547	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	21795050	109764547	61350520	58	23129										
SLC16A10	117247	hgsc.bcm.edu	37	chr6	111543327	111543327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	catagtaagaagcaaagagaGatcagtaaaaccactggaaa	9	6	1	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:111543327G>A	ENST00000368851.5	+	6	1612	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	SLC16A10_ENST00000368850.3_Silent_p.E165E	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	479					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AGCAAAGAGAGATCAGTAAAA	0.433																																					p.E479E		Atlas-SNP	.											SLC16A10,NS,carcinoma,+2,1	SLC16A10	33	1	0			c.G1437A						PASS	.						127	127	127					6																	111543327		2203	4300	6503	SO:0001819	synonymous_variant	117247	exon6			AAGAGAGATCAGT	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1437G>A	6.37:g.111543327G>A		Somatic	196	1	0.00510204		WXS	Illumina HiSeq	Phase_I	152	118	0.776316	NM_018593	B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	CCDS5089.1																																																																																			.	.	none		0.433	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			A	111543327	G	A	111543327	2	1	34	1	0	0	0	0	0	0	0	1	14403	933	33	2		2	SLC16A10	6	111543327	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	1778780	111543327	59571740	59	23130										
RNF217	154214	hgsc.bcm.edu	37	chr6	125397811	125397811	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttgctgatacagatccacatCcagcgaactgaaggatgtga	10	9	0	4			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:125397811C>T	ENST00000521654.2	+	4	1290	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.I138I|RNF217_ENST00000275184.6_Silent_p.I74I|RNF217_ENST00000560949.1_Silent_p.I195I			Q8TC41	RN217_HUMAN	ring finger protein 217	430					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCACATCCAGCGAACTG	0.408																																					p.I138I		Atlas-SNP	.											.	RNF217	64	.	0			c.C414T						PASS	.						115	100	105					6																	125397811		2203	4300	6503	SO:0001819	synonymous_variant	154214	exon6			CCACATCCAGCGA	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1290C>T	6.37:g.125397811C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	69	21	0.304348	NM_152553	H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37																																																																																				.	.	none		0.408	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		T	125397811	C	T	125397811	2	4	34	1	0	0	0	0	0	0	0	1	13481	845	30	2		2	RNF217	6	125397811	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	13854484	125397811	45717256	60	23131										
SASH1	23328	hgsc.bcm.edu	37	chr6	148865065	148865065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctcccagtttccatctgccGgagctgtgagaccctggagg	12	14	1	1	rs144633784	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:148865065G>A	ENST00000367467.3	+	18	2934	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	820					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCATCTGCCGGAGCTGTGAG	0.592													G|||	11	0.00219649	0.0	0.0	5008	,	,		8739	0.0		0.004	False		,,,				2504	0.0072				p.R820Q		Atlas-SNP	.											SASH1,mouth,carcinoma,+1,1	SASH1	123	1	0			c.G2459A						PASS	.	G	GLN/ARG	0,4406		0,0,2203	106	120	116		2459	5.3	1	6	dbSNP_134	116	17,8583	11.9+/-42.8	0,17,4283	yes	missense	SASH1	NM_015278.3	43	0,17,6486	AA,AG,GG		0.1977,0.0,0.1307	probably-damaging	820/1248	148865065	17,12989	2203	4300	6503	SO:0001583	missense	23328	exon18			TCTGCCGGAGCTG	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2459G>A	6.37:g.148865065G>A	ENSP00000356437:p.Arg820Gln	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	60	43	0.716667	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	34	5.322345	0.95708	0.0	0.001977	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.42900	0.96	5.26	5.26	0.73747	.	0.053272	0.85682	D	0.000000	T	0.55784	0.1942	M	0.62723	1.935	0.49299	D	0.999772	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.59484	-0.7446	10	0.72032	D	0.01	-20.5504	17.0537	0.86527	0.0:0.0:1.0:0.0	.	801;820	Q6P4R9;O94885	.;SASH1_HUMAN	Q	820;581;230	ENSP00000356437:R820Q	ENSP00000356437:R820Q	R	+	2	0	SASH1	148906758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.454000	0.82982	0.650000	0.86243	CGG	G|0.998;A|0.002	0.002	strong		0.592	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		A	148865065	G	A	148865065	3	1	34	1	0	0	0	0	1	0	0	0	13848	1116	39	1	2529	1	SASH1	6	148865065	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	23467254	148865065	22250002	61	23132										
C6orf211	79624	hgsc.bcm.edu	37	chr6	151789707	151789707	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	atttgagcttgttacagattTaatattagccgacttcttgt	7	6	1	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:151789707T>A	ENST00000367294.3	+	5	1047	c.788T>A	c.(787-789)tTa>tAa	p.L263*	C6orf211_ENST00000545879.1_Nonsense_Mutation_p.L144*	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	263										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)		GTTACAGATTTAATATTAGCC	0.348																																					p.L263X		Atlas-SNP	.											.	C6orf211	30	.	0			c.T788A						PASS	.						134	139	137					6																	151789707		2203	4300	6503	SO:0001587	stop_gained	79624	exon5			CAGATTTAATATT	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.788T>A	6.37:g.151789707T>A	ENSP00000356263:p.Leu263*	Somatic	353	0	0		WXS	Illumina HiSeq	Phase_I	194	154	0.793814	NM_024573	Q96FC6|Q9UFY5	Nonsense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	T	37	6.256437	0.97417	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	.	.	.	6.02	6.02	0.97574	.	0.264665	0.33075	N	0.005317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	.	.	.	X	263;144	.	ENSP00000356263:L263X	L	+	2	0	C6orf211	151831400	1.000000	0.71417	0.593000	0.28771	0.819000	0.46315	7.963000	0.87922	2.299000	0.77371	0.528000	0.53228	TTA	.	.	none		0.348	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		A	151789707	T	A	151789707	4	1	34	1	0	0	0	0	0	1	0	0	2354	1764	61	5	806	5	C6orf211	6	151789707	Nonsense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	2924642	151789707	19325360	62	23133										
C6orf211	79624	hgsc.bcm.edu	37	chr6	151789728	151789728	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aatattagccgacttcttgtTgtcctctgaactggctactg	8	10	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:151789728T>A	ENST00000367294.3	+	5	1068	c.809T>A	c.(808-810)tTg>tAg	p.L270*	C6orf211_ENST00000545879.1_Nonsense_Mutation_p.L151*	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	270										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)		GACTTCTTGTTGTCCTCTGAA	0.328																																					p.L270X		Atlas-SNP	.											.	C6orf211	30	.	0			c.T809A						PASS	.						131	137	135					6																	151789728		2203	4300	6503	SO:0001587	stop_gained	79624	exon5			TCTTGTTGTCCTC	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.809T>A	6.37:g.151789728T>A	ENSP00000356263:p.Leu270*	Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	179	136	0.759777	NM_024573	Q96FC6|Q9UFY5	Nonsense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	T	38	6.806416	0.97853	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	.	.	.	6.02	6.02	0.97574	.	0.324258	0.29791	N	0.011196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	.	.	.	X	270;151	.	ENSP00000356263:L270X	L	+	2	0	C6orf211	151831421	1.000000	0.71417	0.774000	0.31636	0.994000	0.84299	6.221000	0.72243	2.299000	0.77371	0.528000	0.53228	TTG	.	.	none		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		A	151789728	T	A	151789728	4	1	34	1	0	0	0	0	0	1	0	0	2354	1821	63	5	827	5	C6orf211	6	151789728	Nonsense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	21	151789728	19325339	63	23134										
EZR	7430	hgsc.bcm.edu	37	chr6	159188112	159188113	+	Splice_Site	DEL	TG	TG	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acagctcgctgctcagcgtcTgtaacattaagcagcattgg							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr6:159188112_159188113delTG	ENST00000367075.3	-	14	1765		c.e14-2		EZR_ENST00000392177.4_Splice_Site|MIR3918_ENST00000581555.1_RNA|EZR_ENST00000337147.7_Splice_Site	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTCAGCGTCTGTAACATTAAG	0.579			T	ROS1	NSCLC																																.		Pindel,Atlas-Indel	.		Dom	yes		6	6q25.3	7430	ezrin		E	.	EZR	44	.	0			.						PASS	.																																			SO:0001630	splice_region_variant	7430	.			.	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1597-2CA>-	6.37:g.159188112_159188113delTG		Somatic	191	.	.		WXS	Illumina HiSeq	Phase_I	111	52	0.468	.	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Splice_Site	DEL	ENST00000367075.3	37	CCDS5258.1																																																																																			.	.	none		0.579	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	Intron	-	159188113	TG	-	159188112	8	5	34	1	0	1	0	1	0	0	1	0	5335	1594	55	0	169	0	EZR	6	159188112	Splice_Site	DEL	TG	TCGA-GS-A9TY-01A-11D-A38X-10	7398384	159188112	11926955	64	23135										
CARD11	84433	hgsc.bcm.edu	37	chr7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctcgtcattgtagctgtcccGctcttccttcatcttgtagt	7	13	4	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:2983971G>A	ENST00000396946.4	-	5	962	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	187					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL																																p.R187W		Atlas-SNP	.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	CARD11,NS,carcinoma,0,1	CARD11	339	1	0			c.C559T						scavenged	.						248	154	186					7																	2983971		2203	4300	6503	SO:0001583	missense	84433	exon5			TGTCCCGCTCTTC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.559C>T	7.37:g.2983971G>A	ENSP00000380150:p.Arg187Trp	Somatic	190	1	0.00526316		WXS	Illumina HiSeq	Phase_I	260	106	0.407692	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710363	0.48517	.	.	ENSG00000198286	ENST00000396946	T	0.36157	1.27	4.46	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.20881	0.62	0.52099	D	0.999945	B	0.27971	0.196	B	0.17722	0.019	T	0.05632	-1.0873	10	0.37606	T	0.19	-27.5118	7.2254	0.26012	0.0992:0.0:0.6097:0.2911	.	187	Q9BXL7	CAR11_HUMAN	W	187	ENSP00000380150:R187W	ENSP00000380150:R187W	R	-	1	2	CARD11	2950497	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.135000	0.42112	1.000000	0.39049	0.561000	0.74099	CGG	.	.	none		0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2983971	G	A	2983971	3	1	34	1	0	0	0	0	1	0	0	0	2645	1086	38	1	2989	1	CARD11	7	2983971	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		2983971	156154692	65	23136										
ABCB5	340273	hgsc.bcm.edu	37	chr7	20768004	20768004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agccatgcctttatatatttTgcctatgcggcagggtttcg	10	9	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:20768004T>A	ENST00000404938.2	+	23	3445	c.2793T>A	c.(2791-2793)ttT>ttA	p.F931L	ABCB5_ENST00000258738.6_Missense_Mutation_p.F486L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	931	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTATATATTTTGCCTATGCGG	0.418																																					p.F931L		Atlas-SNP	.											.	ABCB5	357	.	0			c.T2793A						PASS	.						131	134	133					7																	20768004		2203	4300	6503	SO:0001583	missense	340273	exon23			ATATTTTGCCTAT	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2793T>A	7.37:g.20768004T>A	ENSP00000384881:p.Phe931Leu	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	181	67	0.370166	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824361	0.71143	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88664	-2.41;-2.41	3.91	-1.39	0.08997	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.102767	0.39544	N	0.001337	D	0.89153	0.6634	L	0.54965	1.715	0.41601	D	0.988854	B;D;P	0.65815	0.303;0.995;0.871	B;D;P	0.69654	0.282;0.965;0.714	D	0.84074	0.0381	10	0.39692	T	0.17	.	4.9214	0.13871	0.0:0.3962:0.176:0.4278	.	931;109;486	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	L	931;486	ENSP00000384881:F931L;ENSP00000258738:F486L	ENSP00000258738:F486L	F	+	3	2	ABCB5	20734529	0.992000	0.36948	0.995000	0.50966	0.967000	0.64934	0.073000	0.14640	-0.238000	0.09724	0.533000	0.62120	TTT	.	.	none		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20768004	T	A	20768004	3	1	34	1	0	0	0	0	1	0	0	0	44	1809	63	5	2920	5	ABCB5	7	20768004	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	17784033	20768004	138370659	66	23137										
IL6	3569	hgsc.bcm.edu	37	chr7	22767218	22767218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gaattgacaaacaaattcggTacatcctcgacggcatctca	7	11	1	1	rs201822486		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:22767218T>C	ENST00000404625.1	+	3	634	c.175T>C	c.(175-177)Tac>Cac	p.Y59H	IL6_ENST00000401630.3_Missense_Mutation_p.Y36H|IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.Y59H|IL6_ENST00000420258.2_Missense_Mutation_p.Y113H|IL6_ENST00000406575.1_Missense_Mutation_p.Y59H			P05231	IL6_HUMAN	interleukin 6	59					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	ACAAATTCGGTACATCCTCGA	0.582																																					p.Y59H	Esophageal Squamous(47;342 1214 13936 33513)	Atlas-SNP	.											.	IL6	30	.	0			c.T175C						PASS	.						105	100	102					7																	22767218		2203	4300	6503	SO:0001583	missense	3569	exon2			ATTCGGTACATCC	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.175T>C	7.37:g.22767218T>C	ENSP00000385675:p.Tyr59His	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	132	80	0.606061	NM_000600	Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232174	0.39498	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.73	-5.7	0.02421	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.669760	0.02407	N	0.081299	T	0.11110	0.0271	N	0.16903	0.455	0.09310	N	1	B;B;B	0.27882	0.192;0.152;0.039	B;B;B	0.36719	0.231;0.133;0.037	T	0.28235	-1.0050	10	0.25751	T	0.34	-1.1849	5.1132	0.14821	0.2499:0.4044:0.0:0.3457	.	113;59;59	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	H	59;59;59;113;36;59	ENSP00000385675:Y59H;ENSP00000405150:Y59H;ENSP00000258743:Y59H;ENSP00000405994:Y113H;ENSP00000384928:Y36H;ENSP00000385227:Y59H	ENSP00000258743:Y59H	Y	+	1	0	IL6	22733743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.787000	0.04618	-0.714000	0.04975	-0.375000	0.07067	TAC	.	.	weak		0.582	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		C	22767218	T	C	22767218	3	2	34	1	0	0	0	0	1	0	0	0	7701	1638	57	2	181	2	IL6	7	22767218	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	1999214	22767218	136371445	67	23138			1	102		2	2	13	N	T_G	6.008213e-05
IL6	3569	hgsc.bcm.edu	37	chr7	22767230	22767230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaattcggtacatcctcgacGgcatctcagccctgagaaag	9	12	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:22767230G>A	ENST00000404625.1	+	3	646	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	IL6_ENST00000401630.3_Missense_Mutation_p.G40S|IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.G63S|IL6_ENST00000420258.2_Missense_Mutation_p.G117S|IL6_ENST00000406575.1_Missense_Mutation_p.G63S			P05231	IL6_HUMAN	interleukin 6	63					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.G63S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CATCCTCGACGGCATCTCAGC	0.592																																					p.G63S	Esophageal Squamous(47;342 1214 13936 33513)	Atlas-SNP	.											IL6,colon,carcinoma,0,1	IL6	30	1	1	Substitution - Missense(1)	large_intestine(1)	c.G187A						PASS	.						93	88	90					7																	22767230		2203	4300	6503	SO:0001583	missense	3569	exon2			CTCGACGGCATCT	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.187G>A	7.37:g.22767230G>A	ENSP00000385675:p.Gly63Ser	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	125	35	0.28	NM_000600	Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624986	0.66901	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	5.73	-7.63	0.01290	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.051350	0.07276	N	0.869904	T	0.11623	0.0283	N	0.14661	0.345	0.09310	N	1	D;D;P	0.58970	0.983;0.984;0.933	P;P;B	0.52758	0.708;0.645;0.43	T	0.16689	-1.0394	10	0.22706	T	0.39	-0.2201	7.1005	0.25333	0.4851:0.2042:0.3107:0.0	.	117;63;63	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	S	63;63;63;117;40;63	ENSP00000385675:G63S;ENSP00000405150:G63S;ENSP00000258743:G63S;ENSP00000405994:G117S;ENSP00000384928:G40S;ENSP00000385227:G63S	ENSP00000258743:G63S	G	+	1	0	IL6	22733755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.387000	0.07361	-1.013000	0.03383	-0.300000	0.09419	GGC	.	.	none		0.592	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		A	22767230	G	A	22767230	3	1	34	1	0	0	0	0	1	0	0	0	7701	1116	39	1	193	1	IL6	7	22767230	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	12	22767230	136371433	68	23139			1	102		2	2	13	N	T_G	6.008213e-05
SEMA3C	10512	hgsc.bcm.edu	37	chr7	80374533	80374533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cttgaaactattttctgtagCaatgcagtgataaagtcctt	7	7	1	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:80374533C>A	ENST00000265361.3	-	18	2494	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A645S|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A663S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	645	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTGTAGCAATGCAGTGA	0.433																																					p.A645S		Atlas-SNP	.											.	SEMA3C	106	.	0			c.G1933T						PASS	.						78	75	76					7																	80374533		2203	4300	6503	SO:0001583	missense	10512	exon18			CTGTAGCAATGCA	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1933G>T	7.37:g.80374533C>A	ENSP00000265361:p.Ala645Ser	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	140	60	0.428571	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951421	0.53186	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.76578	-1.03;-1.03;-1.03	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.096714	0.64402	D	0.000001	T	0.74412	0.3713	L	0.39692	1.235	0.80722	D	1	B;P	0.39782	0.3;0.688	B;B	0.42625	0.106;0.393	T	0.69789	-0.5050	10	0.18710	T	0.47	.	19.5309	0.95228	0.0:1.0:0.0:0.0	.	663;645	F5H1Z7;Q99985	.;SEM3C_HUMAN	S	645;645;663	ENSP00000265361:A645S;ENSP00000411193:A645S;ENSP00000445649:A663S	ENSP00000265361:A645S	A	-	1	0	SEMA3C	80212469	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	5.641000	0.67881	2.636000	0.89361	0.650000	0.86243	GCT	.	.	none		0.433	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80374533	C	A	80374533	3	1	34	1	0	0	0	0	1	0	0	0	14026	710	25	4	326	4	SEMA3C	7	80374533	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	57607303	80374533	78764130	69	23140										
MUC17	140453	hgsc.bcm.edu	37	chr7	100695189	100695189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgagcctggcttcagtgtctCcaagaactgtaacctcggca	10	12	2	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:100695189C>A	ENST00000306151.4	+	9	13113	c.13049C>A	c.(13048-13050)tCc>tAc	p.S4350Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4350					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)					TTCAGTGTCTCCAAGAACTGT	0.572																																					p.S4350Y		Atlas-SNP	.											.	MUC17	804	.	0			c.C13049A						PASS	.						188	167	174					7																	100695189		2203	4300	6503	SO:0001583	missense	140453	exon9			GTGTCTCCAAGAA	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.13049C>A	7.37:g.100695189C>A	ENSP00000302716:p.Ser4350Tyr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	35	0.416667	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.810	0.333824	0.11013	.	.	ENSG00000169876	ENST00000306151	T	0.52057	0.68	4.26	3.34	0.38264	.	.	.	.	.	T	0.52158	0.1717	L	0.28556	0.865	0.09310	N	1	D	0.63046	0.992	D	0.64506	0.926	T	0.36261	-0.9755	9	0.66056	D	0.02	.	9.2479	0.37539	0.2158:0.7842:0.0:0.0	.	4350	Q685J3	MUC17_HUMAN	Y	4350	ENSP00000302716:S4350Y	ENSP00000302716:S4350Y	S	+	2	0	MUC17	100481909	0.058000	0.20735	0.004000	0.12327	0.003000	0.03518	3.104000	0.50306	1.079000	0.41038	0.561000	0.74099	TCC	.	.	none		0.572	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100695189	C	A	100695189	3	1	34	1	0	0	0	0	1	0	0	0	9974	855	30	4	13083	4	MUC17	7	100695189	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	20320656	100695189	58443474	70	23141										
PIK3CG	5294	hgsc.bcm.edu	37	chr7	106523531	106523531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttgccaaaattcagcaaagcAcagtgggcaacacgggagca	11	10	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:106523531A>G	ENST00000359195.3	+	8	2993	c.2683A>G	c.(2683-2685)Aca>Gca	p.T895A	PIK3CG_ENST00000496166.1_Missense_Mutation_p.T895A|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T895A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	895	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAGCAAAGCACAGTGGGCAA	0.463																																					p.T895A		Atlas-SNP	.											.	PIK3CG	279	.	0			c.A2683G						PASS	.						159	155	156					7																	106523531		2203	4300	6503	SO:0001583	missense	5294	exon8			CAAAGCACAGTGG		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2683A>G	7.37:g.106523531A>G	ENSP00000352121:p.Thr895Ala	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348050	0.24426	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.1	5.1	0.69264	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.097763	0.64402	D	0.000001	T	0.68430	0.3000	N	0.25890	0.77	0.54753	D	0.999984	B	0.11235	0.004	B	0.20384	0.029	T	0.62793	-0.6779	10	0.07325	T	0.83	-20.0097	15.0634	0.71973	1.0:0.0:0.0:0.0	.	895	P48736	PK3CG_HUMAN	A	895;895;168;895	ENSP00000392258:T895A;ENSP00000419260:T895A;ENSP00000417623:T168A;ENSP00000352121:T895A	ENSP00000352121:T895A	T	+	1	0	PIK3CG	106310767	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	6.652000	0.74377	2.131000	0.65755	0.459000	0.35465	ACA	.	.	none		0.463	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			G	106523531	A	G	106523531	3	3	34	1	0	0	0	0	1	0	0	0	11916	159	6	2	2709	2	PIK3CG	7	106523531	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	5828342	106523531	52615132	71	23142										
AASS	10157	hgsc.bcm.edu	37	chr7	121738881	121738881	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccagatccaagaaccaaaacCtttctcctggtgcccattga	6	14	1	3	rs549330560		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:121738881C>G	ENST00000393376.1	-	13	1541	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.K482N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	482	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GAACCAAAACCTTTCTCCTGG	0.313																																					p.K482N		Atlas-SNP	.											.	AASS	123	.	0			c.G1446C						PASS	.						62	67	66					7																	121738881		2203	4299	6502	SO:0001583	missense	10157	exon14			CAAAACCTTTCTC	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1446G>C	7.37:g.121738881C>G	ENSP00000377040:p.Lys482Asn	Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	137	49	0.357664	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884697	0.51908	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.96	4.9	0.64082	NAD(P)-binding domain (1);	0.189513	0.56097	D	0.000031	T	0.38639	0.1048	N	0.08118	0	0.45477	D	0.998446	B	0.06786	0.001	B	0.12837	0.008	T	0.20174	-1.0283	9	0.41790	T	0.15	-16.3813	14.9791	0.71299	0.0:0.9183:0.0:0.0817	.	482	Q9UDR5	AASS_HUMAN	N	482	.	ENSP00000351834:K482N	K	-	3	2	AASS	121526117	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	0.796000	0.26986	2.823000	0.97156	0.650000	0.86243	AAG	.	.	none		0.313	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121738881	C	G	121738881	3	3	34	1	0	0	0	0	1	0	0	0	24	680	24	4	1378	4	AASS	7	121738881	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	15215350	121738881	37399782	72	23143										
LUC7L2	100996928	hgsc.bcm.edu	37	chr7	139102385	139102385	+	Frame_Shift_Del	DEL	G	G	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ggagaaacgccatcgccacaGgtcccgctccagcagccgta							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:139102385delG	ENST00000354926.4	+	9	1265	c.911delG	c.(910-912)aggfs	p.R304fs	C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.R301fs|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.R303fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.R370fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CATCGCCACAGGTCCCGCTCC	0.562																																					p.R370fs		Pindel,Atlas-Indel	.											.	.	.	.	0			c.1108delA						PASS	.						56	67	63					7																	139102385		2127	4228	6355	SO:0001589	frameshift_variant	100996928	exon10			.		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.911delG	7.37:g.139102385delG	ENSP00000347005:p.Arg304fs	Somatic	81	.	.		WXS	Illumina HiSeq	Phase_I	59	32	0.542	NM_001244584		Frame_Shift_Del	DEL	ENST00000354926.4	37	CCDS43656.1																																																																																			.	.	none		0.562	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			-	139102385	G	-	139102385	7	5	34	1	0	1	0	1	0	0	0	0	9083	1000	35	0	945	0	LUC7L2	7	139102385	Frame_Shift_Del	DEL	G	TCGA-GS-A9TY-01A-11D-A38X-10	17363504	139102385	20036278	73	23144										
PARP12	64761	hgsc.bcm.edu	37	chr7	139734083	139734083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gagacacgtatttgggtctgCggcaaacctttttagttgtg	12	7	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:139734083C>T	ENST00000263549.3	-	8	2246	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	458	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTTGGGTCTGCGGCAAACCTT	0.443																																					p.R458H		Atlas-SNP	.											.	PARP12	59	.	0			c.G1373A						PASS	.						86	79	81					7																	139734083		2203	4300	6503	SO:0001583	missense	64761	exon8			GGTCTGCGGCAAA	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1373G>A	7.37:g.139734083C>T	ENSP00000263549:p.Arg458His	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	100	36	0.36	NM_022750	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110229	0.94292	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.72725	-0.25;-0.68	5.84	5.84	0.93424	WWE domain (1);	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	M	0.87180	2.865	0.53688	D	0.999975	D	0.89917	1.0	D	0.87578	0.998	D	0.88096	0.2816	10	0.72032	D	0.01	.	18.3385	0.90297	0.0:1.0:0.0:0.0	.	458	Q9H0J9	PAR12_HUMAN	H	458;96	ENSP00000263549:R458H;ENSP00000417606:R96H	ENSP00000263549:R458H	R	-	2	0	PARP12	139380552	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.991000	0.70602	2.767000	0.95098	0.555000	0.69702	CGC	.	.	none		0.443	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139734083	C	T	139734083	3	4	34	1	0	0	0	0	1	0	0	0	11457	768	27	1	752	1	PARP12	7	139734083	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	631698	139734083	19404580	74	23145										
MGAM	8972	hgsc.bcm.edu	37	chr7	141805676	141805676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aattttacttcattgacgtgGataagcactctgtgaatttt	7	6	2	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr7:141805676G>T	ENST00000549489.2	+	48	5654	c.5559G>T	c.(5557-5559)tgG>tgT	p.W1853C	MGAM_ENST00000475668.2_Missense_Mutation_p.W2749C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1853					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTGACGTGGATAAGCACTC	0.348																																					p.W1853C		Atlas-SNP	.											.	MGAM	767	.	0			c.G5559T						PASS	.						122	115	117					7																	141805676		1854	4099	5953	SO:0001583	missense	8972	exon48			GACGTGGATAAGC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5559G>T	7.37:g.141805676G>T	ENSP00000447378:p.Trp1853Cys	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	122	44	0.360656	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133003	0.56828	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.90133	-2.62	5.43	4.56	0.56223	.	.	.	.	.	D	0.94420	0.8205	M	0.84683	2.71	0.45150	D	0.998161	D	0.67145	0.996	D	0.63033	0.91	D	0.94592	0.7788	9	0.87932	D	0	.	10.0176	0.42024	0.0904:0.0:0.9096:0.0	.	1853	O43451	MGA_HUMAN	C	1853;2750	ENSP00000447378:W1853C	ENSP00000373973:W1853C	W	+	3	0	MGAM	141452145	0.998000	0.40836	0.736000	0.30914	0.028000	0.11728	4.135000	0.57997	1.535000	0.49220	0.655000	0.94253	TGG	.	.	none		0.348	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141805676	G	T	141805676	3	4	34	1	0	0	0	0	1	0	0	0	9541	1183	41	4	5745	4	MGAM	7	141805676	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	2071593	141805676	17332987	75	23146										
TRIM55	84675	hgsc.bcm.edu	37	chr8	67067878	67067878	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gagttagtaatctgcctagcGcttttggcttttcttattct	8	8	3	0	rs373183172		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr8:67067878G>A	ENST00000315962.4	+	9	1897				TRIM55_ENST00000276573.7_Silent_p.A515A|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCTGCCTAGCGCTTTTGGCTT	0.318																																					p.A515A		Atlas-SNP	.											.	TRIM55	91	.	0			c.G1545A						PASS	.	G	,,,	0,4404		0,0,2202	164	155	158		1545,,,	1.8	1	8		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron	TRIM55	NM_033058.2,NM_184085.1,NM_184086.1,NM_184087.1	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	515/541,,,	67067878	1,13003	2202	4300	6502	SO:0001627	intron_variant	84675	exon10			CCTAGCGCTTTTG	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1524+1309G>A	8.37:g.67067878G>A		Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	237	44	0.185654	NM_033058	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	CCDS6184.1																																																																																			.	.	weak		0.318	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		A	67067878	G	A	67067878	1	1	34	0	1	0	0	0	0	0	0	0	16526	1074	38	1		1	TRIM55	8	67067878	Intron	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		67067878	79296144	76	23147										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77618778	77618778	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcctcgccccggcggaagcaGagctttatcagtactaccta	10	14	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr8:77618778G>T	ENST00000521891.2	+	2	2903	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E819*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E819*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E819*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	819					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)			GGCGGAAGCAGAGCTTTATCA	0.507										HNSCC(33;0.089)																											p.E819X		Atlas-SNP	.											.	ZFHX4	878	.	0			c.G2455T						PASS	.						20	20	20					8																	77618778		2019	4178	6197	SO:0001587	stop_gained	79776	exon2			GAAGCAGAGCTTT		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.2455G>T	8.37:g.77618778G>T	ENSP00000430497:p.Glu819*	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	71	36	0.507042	NM_024721	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	38	6.790914	0.97841	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.91	4.91	0.64330	.	0.000000	0.43579	U	0.000548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6385	0.91386	0.0:0.0:1.0:0.0	.	.	.	.	X	819	.	ENSP00000050961:E819X	E	+	1	0	ZFHX4	77781333	1.000000	0.71417	0.976000	0.42696	0.921000	0.55340	9.559000	0.98135	2.699000	0.92147	0.585000	0.79938	GAG	.	.	none		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77618778	G	T	77618778	4	4	34	1	0	0	0	0	0	1	0	0	17632	943	33	4	2457	4	ZFHX4	8	77618778	Nonsense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	10550900	77618778	68745244	77	23148										
RUNX1T1	862	hgsc.bcm.edu	37	chr8	93026977	93026977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ggaggaagaagaggaaggccCattgctgaagccattgggtg	17	6	0	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr8:93026977C>T	ENST00000523629.1	-	4	752	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G63R|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.G63R|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G73R|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G63R|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G63R|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G100R|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G73R|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G111R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	100					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAGGAAGGCCCATTGCTGAAG	0.532																																					p.G159R		Atlas-SNP	.											.	RUNX1T1	516	.	0			c.G475A						PASS	.						58	60	59					8																	93026977		2203	4300	6503	SO:0001583	missense	862	exon4			AAGGCCCATTGCT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.298G>A	8.37:g.93026977C>T	ENSP00000428543:p.Gly100Arg	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	52	22	0.423077	NM_001198679	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322905	0.95708	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823	T;T;T;T;T;T;T;T;T;T;T	0.48836	1.36;1.37;1.36;1.38;1.38;1.38;1.36;1.37;0.82;0.8;1.42	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;1.0;0.986;1.0;0.994	T	0.65071	-0.6257	10	0.52906	T	0.07	-18.8339	20.6013	0.99457	0.0:1.0:0.0:0.0	.	111;111;73;100;73	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	R	100;73;100;63;63;63;111;73;63;100;63;100;63;100;100;73;63;63;100;100;73	ENSP00000428543:G100R;ENSP00000379520:G73R;ENSP00000265814:G100R;ENSP00000353504:G63R;ENSP00000390137:G63R;ENSP00000428742:G63R;ENSP00000402257:G111R;ENSP00000430728:G73R;ENSP00000429728:G63R;ENSP00000431094:G100R;ENSP00000427763:G63R	ENSP00000265814:G100R	G	-	1	0	RUNX1T1	93096153	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.783000	0.85696	2.878000	0.98634	0.650000	0.86243	GGG	.	.	none		0.532	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		T	93026977	C	T	93026977	3	4	34	1	0	0	0	0	1	0	0	0	13747	594	21	2	1552	2	RUNX1T1	8	93026977	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	15408199	93026977	53337045	78	23149										
TMEM74	157753	hgsc.bcm.edu	37	chr8	109796609	109796609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acaggatgacgccccccagcGtgaggaggcagagccccgca	14	15	0	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr8:109796609G>A	ENST00000297459.3	-	2	897	c.719C>T	c.(718-720)aCg>aTg	p.T240M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	240					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T240M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCCCCCCAGCGTGAGGAGGCA	0.587																																					p.T240M		Atlas-SNP	.											TMEM74,NS,carcinoma,0,6	TMEM74	70	6	1	Substitution - Missense(1)	prostate(1)	c.C719T						PASS	.						64	62	63					8																	109796609		2203	4300	6503	SO:0001583	missense	157753	exon2			CCCAGCGTGAGGA	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.719C>T	8.37:g.109796609G>A	ENSP00000297459:p.Thr240Met	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	58	17	0.293103	NM_153015		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318149	0.81469	.	.	ENSG00000164841	ENST00000297459	T	0.19394	2.15	5.42	5.42	0.78866	.	0.102142	0.64402	D	0.000003	T	0.48040	0.1478	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	10	0.87932	D	0	-17.0071	19.416	0.94700	0.0:0.0:1.0:0.0	.	240	Q96NL1	TMM74_HUMAN	M	240	ENSP00000297459:T240M	ENSP00000297459:T240M	T	-	2	0	TMEM74	109865785	1.000000	0.71417	0.973000	0.42090	0.826000	0.46750	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	ACG	.	.	none		0.587	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		A	109796609	G	A	109796609	3	1	34	1	0	0	0	0	1	0	0	0	16199	1145	40	1	202	1	TMEM74	8	109796609	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	16769632	109796609	36567413	79	23150										
TSNARE1	203062	hgsc.bcm.edu	37	chr8	143356150	143356150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acacggacttacttggtgccGgctggctccagccaggagct	13	13	0	0	rs546251254		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr8:143356150G>A	ENST00000307180.3	-	12	1555	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	TSNARE1_ENST00000519651.1_Missense_Mutation_p.R261W|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R479W|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R480W	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	480					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)					ACTTGGTGCCGGCTGGCTCCA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16768	0.0		0.001	False		,,,				2504	0.0				p.R480W		Atlas-SNP	.											.	TSNARE1	59	.	0			c.C1438T						PASS	.						11	15	14					8																	143356150		2174	4272	6446	SO:0001583	missense	203062	exon12			GGTGCCGGCTGGC			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.1438C>T	8.37:g.143356150G>A	ENSP00000303437:p.Arg480Trp	Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	152	25	0.164474	NM_145003	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188182	0.38609	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.35236	2.61;2.61;2.61;1.32	2.4	2.4	0.29515	Target SNARE coiled-coil domain (1);	.	.	.	.	T	0.61375	0.2342	M	0.86502	2.82	0.27569	N	0.949932	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.68483	0.958;0.925;0.958;0.958	T	0.53982	-0.8361	9	0.87932	D	0	.	10.9101	0.47103	0.0:0.0:1.0:0.0	.	479;261;480;481	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	W	479;480;480;261	ENSP00000428763:R479W;ENSP00000303437:R480W;ENSP00000427770:R480W;ENSP00000429679:R261W	ENSP00000303437:R480W	R	-	1	2	TSNARE1	143354057	0.862000	0.29867	1.000000	0.80357	0.213000	0.24496	0.786000	0.26844	1.272000	0.44329	0.462000	0.41574	CGG	.	.	none		0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143356150	G	A	143356150	3	1	34	1	0	0	0	0	1	0	0	0	16627	1115	39	1	111	1	TSNARE1	8	143356150	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	33559541	143356150	3007872	80	23151										
FRMPD1	22844	hgsc.bcm.edu	37	chr9	37746410	37746410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	actttaccgaaagccggagcCgcctctgcatgggctcccag	11	15	1	0	rs199593687		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr9:37746410C>T	ENST00000539465.1	+	16	4974	c.4381C>T	c.(4381-4383)Cgc>Tgc	p.R1461C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1461C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1461						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)		AAGCCGGAGCCGCCTCTGCAT	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16762	0.0		0.0	False		,,,				2504	0.0				p.R1461C		Atlas-SNP	.											.	FRMPD1	237	.	0			c.C4381T						PASS	.						20	23	22					9																	37746410		2202	4299	6501	SO:0001583	missense	22844	exon16			CGGAGCCGCCTCT	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.4381C>T	9.37:g.37746410C>T	ENSP00000444411:p.Arg1461Cys	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	22	14	0.636364	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.19	3.325729	0.60743	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07444	3.19;3.19	5.67	3.13	0.36017	.	0.672742	0.15711	N	0.248395	T	0.06371	0.0164	L	0.29908	0.895	0.80722	D	1	B	0.16603	0.018	B	0.08055	0.003	T	0.21895	-1.0232	10	0.46703	T	0.11	-8.2395	7.7661	0.28980	0.23:0.6848:0.0:0.0852	.	1461	Q5SYB0	FRPD1_HUMAN	C	1461	ENSP00000366995:R1461C;ENSP00000444411:R1461C	ENSP00000366995:R1461C	R	+	1	0	FRMPD1	37736410	0.387000	0.25188	1.000000	0.80357	0.998000	0.95712	0.559000	0.23485	2.672000	0.90937	0.655000	0.94253	CGC	C|1.000;T|0.000	0.000	strong		0.572	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37746410	C	T	37746410	3	4	34	1	0	0	0	0	1	0	0	0	6057	652	23	1	4439	1	FRMPD1	9	37746410	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		37746410	103467021	81	23152										
PCSK5	5125	hgsc.bcm.edu	37	chr9	78796464	78796464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tttctgaatgaagaaaccaaCagctgtgttactcactgccc	7	11	2	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr9:78796464C>G	ENST00000545128.1	+	16	2692	c.2154C>G	c.(2152-2154)aaC>aaG	p.N718K	PCSK5_ENST00000376752.4_Missense_Mutation_p.N718K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	718	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGAAACCAACAGCTGTGTTA	0.453																																					p.N718K		Atlas-SNP	.											.	PCSK5	329	.	0			c.C2154G						PASS	.						131	113	119					9																	78796464		2203	4300	6503	SO:0001583	missense	5125	exon16			AACCAACAGCTGT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2154C>G	9.37:g.78796464C>G	ENSP00000446280:p.Asn718Lys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	127	34	0.267717	NM_006200	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193932	0.38707	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;D;T	0.85484	-0.14;-1.99;-0.09	6.06	3.92	0.45320	.	0.166330	0.64402	D	0.000004	T	0.79969	0.4538	L	0.54908	1.71	0.37334	D	0.910111	B	0.21147	0.052	B	0.21917	0.037	T	0.78453	-0.2198	10	0.46703	T	0.11	-19.0967	7.7085	0.28663	0.0:0.6627:0.1411:0.1962	.	718	Q92824-2	.	K	718;421;718;391	ENSP00000446280:N718K;ENSP00000365943:N718K;ENSP00000411654:N391K	ENSP00000365943:N718K	N	+	3	2	PCSK5	77986284	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	0.911000	0.28584	1.581000	0.49865	0.655000	0.94253	AAC	.	.	none		0.453	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	78796464	C	G	78796464	3	3	34	1	0	0	0	0	1	0	0	0	11603	477	17	4	2216	4	PCSK5	9	78796464	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	41050054	78796464	62416967	82	23153										
MED22	6837	hgsc.bcm.edu	37	chr9	136213400	136213400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccaccccacccccaccttggCggtcttgatgatctcggtga	9	17	2	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr9:136213400C>T	ENST00000491289.1	-	2	699	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	MED22_ENST00000344469.5_Missense_Mutation_p.A40T|MED22_ENST00000476080.1_Missense_Mutation_p.A40T|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000343730.5_Missense_Mutation_p.A40T|RPL7A_ENST00000315731.4_5'Flank|MED22_ENST00000371999.1_Missense_Mutation_p.A40T|MED22_ENST00000471524.1_Intron|RPL7A_ENST00000323345.6_5'Flank			Q15528	MED22_HUMAN	mediator complex subunit 22	40						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CCCACCTTGGCGGTCTTGATG	0.592																																					p.A40T		Atlas-SNP	.											.	MED22	13	.	0			c.G118A						PASS	.						140	123	129					9																	136213400		2203	4300	6503	SO:0001583	missense	6837	exon2			CCTTGGCGGTCTT		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.118G>A	9.37:g.136213400C>T	ENSP00000420393:p.Ala40Thr	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	155	92	0.593548	NM_181491	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832980	0.91036	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.01	3.17	0.36434	.	0.050283	0.85682	D	0.000000	T	0.62986	0.2473	M	0.70842	2.15	0.80722	D	1	P;D	0.57571	0.923;0.98	P;P	0.50490	0.563;0.642	T	0.65150	-0.6238	9	0.72032	D	0.01	-21.2717	10.5851	0.45278	0.0:0.8424:0.0:0.1576	.	40;40	Q15528-2;Q15528	.;MED22_HUMAN	T	40	.	ENSP00000342343:A40T	A	-	1	0	MED22	135203221	1.000000	0.71417	0.928000	0.36995	0.948000	0.59901	5.942000	0.70203	0.519000	0.28406	0.491000	0.48974	GCC	.	.	none		0.592	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		T	136213400	C	T	136213400	3	4	34	1	0	0	0	0	1	0	0	0	9440	768	27	1	510	1	MED22	9	136213400	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	57416936	136213400	5000031	83	23154										
C10orf18	54906	hgsc.bcm.edu	37	chr10	5790878	5790878	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aactctctggagattctgatCtagacctgcttggtgattgt	10	8	3	4			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr10:5790878C>G	ENST00000328090.5	+	15	6119	c.5494C>G	c.(5494-5496)Cta>Gta	p.L1832V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1832																	AGATTCTGATCTAGACCTGCT	0.478																																					p.L1832V		Atlas-SNP	.											.	.	.	.	0			c.C5494G						PASS	.						67	66	66					10																	5790878		1873	4124	5997	SO:0001583	missense	54906	exon15			TCTGATCTAGACC	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5494C>G	10.37:g.5790878C>G	ENSP00000328426:p.Leu1832Val	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	87	73	0.83908	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006421	0.19199	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04234	3.67	5.71	-3.08	0.05347	.	1.613740	0.03359	N	0.197302	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	B	0.22604	0.072	B	0.18871	0.023	T	0.45366	-0.9266	10	0.07813	T	0.8	.	11.99	0.53169	0.2271:0.2164:0.5565:0.0	.	1832	Q5VWN6	F208B_HUMAN	V	1832;1027	ENSP00000328426:L1832V	ENSP00000328426:L1832V	L	+	1	2	C10orf18	5830884	0.359000	0.24955	0.000000	0.03702	0.089000	0.18198	0.425000	0.21346	-0.953000	0.03645	0.563000	0.77884	CTA	.	.	none		0.478	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		G	5790878	C	G	5790878	3	3	34	1	0	0	0	0	1	0	0	0	1596	912	32	4	5540	4	C10orf18	10	5790878	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		5790878	129743869	84	23155										
SYT15	83849	hgsc.bcm.edu	37	chr10	46965887	46965888	+	Splice_Site	INS	-	-	G													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gatggtcttgctggacacctINSgggggggacaaggacaccag					rs368272154|rs112965082		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr10:46965887_46965888insG	ENST00000374321.4	-	5	718		c.e5-2		SYT15_ENST00000503753.1_Splice_Site|SYT15_ENST00000374323.4_Splice_Site|SYT15_ENST00000374325.3_Splice_Site|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTGGACACCTGGGGGGGACAA	0.604																																					.	Ovarian(57;1152 1428 19651 37745)	Pindel	.											.	SYT15	165	.	0			c.652-2->C						PASS	.																																			SO:0001630	splice_region_variant	83849	exon6			.	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.652-2->C	10.37:g.46965894_46965894dupG		Somatic	40	.	.		WXS	Illumina HiSeq	Phase_I	27	11	0.407	NM_181519	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Splice_Site	INS	ENST00000374321.4	37	CCDS44376.1																																																																																			-|0.500;G|0.500	0.500	weak		0.604	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	Intron	G	46965888	-	G	46965887	8	5	34	1	0	1	1	0	0	0	1	0	15468	1594	55	0	685	0	SYT15	10	46965887	Splice_Site	INS	-	TCGA-GS-A9TY-01A-11D-A38X-10	41175009	46965887	88568860	85	23156										
OR10A4	283297	hgsc.bcm.edu	37	chr11	6898788	6898788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aagtgaaggctgcactgaagCggcttatccacaggaccctg	12	11	0	2	rs146085036	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:6898788C>T	ENST00000379829.2	+	1	933	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	304					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCACTGAAGCGGCTTATCCA	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		19920	0.002		0.0	False		,,,				2504	0.0				p.R304W		Atlas-SNP	.											.	OR10A4	65	.	0			c.C910T						PASS	.		TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	82	82	82		910	2	0.1	11	dbSNP_134	82	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR10A4	NM_207186.2	101	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	304/316	6898788	2,12992	2201	4296	6497	SO:0001583	missense	283297	exon1			CTGAAGCGGCTTA	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.910C>T	11.37:g.6898788C>T	ENSP00000369157:p.Arg304Trp	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	44	26	0.590909	NM_207186	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	CCDS7774.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	11.99	1.802297	0.31869	2.27E-4	1.16E-4	ENSG00000170782	ENST00000379829	T	0.41758	0.99	3.99	2.01	0.26516	.	0.000000	0.40385	N	0.001120	T	0.39172	0.1068	M	0.65975	2.015	0.20563	N	0.999889	B	0.18968	0.032	B	0.20184	0.028	T	0.42599	-0.9442	10	0.87932	D	0	.	8.8618	0.35263	0.4398:0.5602:0.0:0.0	.	304	Q9H209	O10A4_HUMAN	W	304	ENSP00000369157:R304W	ENSP00000369157:R304W	R	+	1	2	OR10A4	6855364	0.001000	0.12720	0.064000	0.19789	0.163000	0.22366	1.026000	0.30103	0.580000	0.29522	0.651000	0.88453	CGG	C|1.000;T|0.000	0.000	strong		0.448	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		T	6898788	C	T	6898788	3	4	34	1	0	0	0	0	1	0	0	0	10892	759	27	1	912	1	OR10A4	11	6898788	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		6898788	128107728	86	23157										
ANO5	203859	hgsc.bcm.edu	37	chr11	22249091	22249091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aggagctcttcctcatcgaaGatcaggcaaccttctttcca	7	13	4	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:22249091G>T	ENST00000324559.8	+	7	924	c.607G>T	c.(607-609)Gat>Tat	p.D203Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	203					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCATCGAAGATCAGGCAAC	0.458																																					p.D203Y		Atlas-SNP	.											.	ANO5	162	.	0			c.G607T						PASS	.						98	96	97					11																	22249091		2203	4300	6503	SO:0001583	missense	203859	exon7			ATCGAAGATCAGG	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.607G>T	11.37:g.22249091G>T	ENSP00000315371:p.Asp203Tyr	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	86	50	0.581395	NM_213599		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651987	0.67472	.	.	ENSG00000171714	ENST00000324559	T	0.65916	-0.18	5.69	4.78	0.61160	.	0.174317	0.64402	D	0.000009	D	0.82388	0.5026	M	0.92317	3.295	0.58432	D	0.999994	D	0.71674	0.998	D	0.64506	0.926	D	0.87157	0.2212	10	0.87932	D	0	.	14.8589	0.70362	0.0693:0.0:0.9307:0.0	.	203	Q75V66	ANO5_HUMAN	Y	203	ENSP00000315371:D203Y	ENSP00000315371:D203Y	D	+	1	0	ANO5	22205667	1.000000	0.71417	0.390000	0.26220	0.843000	0.47879	3.119000	0.50422	1.409000	0.46915	0.650000	0.86243	GAT	.	.	none		0.458	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		T	22249091	G	T	22249091	3	4	34	1	0	0	0	0	1	0	0	0	700	942	33	4	633	4	ANO5	11	22249091	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	15350303	22249091	112757425	87	23158										
HARBI1	283254	hgsc.bcm.edu	37	chr11	46637180	46637180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tactgagggaagactgctgcAgcacagcacagtcctgtagg	13	10	0	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:46637180A>G	ENST00000326737.3	-	2	855	c.608T>C	c.(607-609)cTg>cCg	p.L203P	ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000530500.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	203						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGACTGCTGCAGCACAGCACA	0.493																																					p.L203P		Atlas-SNP	.											.	HARBI1	19	.	0			c.T608C						PASS	.						115	118	117					11																	46637180		2201	4299	6500	SO:0001583	missense	283254	exon2			TGCTGCAGCACAG	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.608T>C	11.37:g.46637180A>G	ENSP00000317743:p.Leu203Pro	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	125	75	0.6	NM_173811	D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158679	0.78226	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.23	5.23	0.72850	.	0.141737	0.48767	D	0.000171	D	0.83663	0.5303	M	0.89601	3.045	0.80722	D	1	D	0.58970	0.984	D	0.64237	0.923	D	0.87380	0.2356	9	0.72032	D	0.01	-12.4836	15.1287	0.72503	1.0:0.0:0.0:0.0	.	203	Q96MB7	HARB1_HUMAN	P	203	.	ENSP00000317743:L203P	L	-	2	0	HARBI1	46593756	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.918000	0.92759	1.967000	0.57214	0.533000	0.62120	CTG	.	.	none		0.493	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		G	46637180	A	G	46637180	3	3	34	1	0	0	0	0	1	0	0	0	6958	188	7	3	449	3	HARBI1	11	46637180	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	24388089	46637180	88369336	88	23159										
FLRT1	28992	hgsc.bcm.edu	37	chr11	63884662	63884662	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtccaacaacaacctgaccaCgctgccccgcggcctgttcg	9	18	0	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:63884662C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.T308M	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AACCTGACCACGCTGCCCCGC	0.617																																					p.T308M		Atlas-SNP	.											.	FLRT1	46	.	0			c.C923T						PASS	.						56	48	51					11																	63884662		2201	4297	6498	SO:0001627	intron_variant	23769	exon2			TGACCACGCTGCC	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34048G>A	11.37:g.63884662C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	65	34	0.523077	NM_013280	Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848171	0.32699	.	.	ENSG00000126500	ENST00000246841	T	0.59906	0.23	5.07	3.14	0.36123	.	0.133754	0.49305	D	0.000152	T	0.60805	0.2297	L	0.57536	1.79	0.50039	D	0.99984	D	0.61697	0.99	P	0.56042	0.79	T	0.55425	-0.8143	10	0.20519	T	0.43	-19.8004	8.6572	0.34071	0.1515:0.767:0.0:0.0815	.	280	Q9NZU1	FLRT1_HUMAN	M	308	ENSP00000246841:T308M	ENSP00000246841:T308M	T	+	2	0	FLRT1	63641238	0.849000	0.29639	0.841000	0.33234	0.916000	0.54674	1.646000	0.37249	0.492000	0.27815	0.484000	0.47621	ACG	.	.	none		0.617	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		T	63884662	C	T	63884662	1	4	34	0	1	0	0	0	0	0	0	0	5938	536	19	1		1	FLRT1	11	63884662	Intron	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	17247482	63884662	71121854	89	23160										
ODZ4	26011	hgsc.bcm.edu	37	chr11	78369308	78369308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tctgctgctcgcgggcccacGcttggcgcacggctctctgc	13	17	2	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:78369308G>A	ENST00000278550.7	-	34	8567	c.8105C>T	c.(8104-8106)gCg>gTg	p.A2702V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2702					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)										GCGGGCCCACGCTTGGCGCAC	0.672																																					p.A2702V		Atlas-SNP	.											ODZ4_ENST00000278550,colon,carcinoma,+1,2	.	.	2	0			c.C8105T						PASS	.						39	45	43					11																	78369308		2029	4182	6211	SO:0001583	missense	26011	exon34			GCCCACGCTTGGC	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.8105C>T	11.37:g.78369308G>A	ENSP00000278550:p.Ala2702Val	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	71	28	0.394366	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589110	0.86851	.	.	ENSG00000149256	ENST00000278550	D	0.92911	-3.13	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.94982	0.8126	9	.	.	.	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	2702	Q6N022	TEN4_HUMAN	V	2702	ENSP00000278550:A2702V	.	A	-	2	0	ODZ4	78046956	1.000000	0.71417	0.972000	0.41901	0.607000	0.37147	9.601000	0.98297	2.884000	0.98904	0.655000	0.94253	GCG	.	.	none		0.672	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78369308	G	A	78369308	3	1	34	1	0	0	0	0	1	0	0	0	10837	1087	38	1	208	1	ODZ4	11	78369308	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	14484646	78369308	56637208	90	23161										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108385451	108385451	+	Frame_Shift_Del	DEL	T	T	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttggaagtttcattatagtgTtttttgtgcctttctgtgat							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:108385451delT	ENST00000265843.4	-	6	893	c.783delA	c.(781-783)aaafs	p.K261fs	EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K185fs|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K254fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.K73fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	261					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATTATAGTGTTTTTTGTGCC	0.383																																					p.H262fs		Pindel	.											EXPH5,NS,carcinoma,+2,1	EXPH5	193	1	0			c.784delC						PASS	.						146	135	139					11																	108385451		2201	4298	6499	SO:0001589	frameshift_variant	23086	exon6			.		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.783delA	11.37:g.108385451delT	ENSP00000265843:p.Lys261fs	Somatic	331	.	.		WXS	Illumina HiSeq	Phase_I	450	102	0.227	NM_015065	Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	CCDS8341.1																																																																																			.	.	none		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		-	108385451	T	-	108385451	7	5	34	1	0	1	0	1	0	0	0	0	5322	1722	60	0	5190	0	EXPH5	11	108385451	Frame_Shift_Del	DEL	T	TCGA-GS-A9TY-01A-11D-A38X-10	30016143	108385451	26621065	91	23162										
OR8B3	390271	hgsc.bcm.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	8	4	1	4	rs142812088		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																					p.F107F		Atlas-SNP	.											OR8B3,NS,carcinoma,0,1	OR8B3	36	1	0			c.T321C						scavenged	.						78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			GATGACAAAAAAG	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G		Somatic	274	7	0.0255474		WXS	Illumina HiSeq	Phase_I	317	20	0.0630915	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			A|1.000;G|0.000	0.000	weak		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	34	1	0	0	0	0	0	0	0	1	11228	127	5	2		2	OR8B3	11	124266927	Silent	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	15881476	124266927	10739589	92	23163										
SLC2A14	144195	hgsc.bcm.edu	37	chr12	7970447	7970447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agcagcagaggggaagagcaAtccgactaggaagttggagg	17	6	0	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:7970447A>C	ENST00000543909.1	-	15	2083	c.1324T>G	c.(1324-1326)Ttg>Gtg	p.L442V	SLC2A14_ENST00000340749.5_Missense_Mutation_p.L419V|SLC2A14_ENST00000542505.1_Missense_Mutation_p.L83V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L442V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L457V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L333V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L419V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L333V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GGGAAGAGCAATCCGACTAGG	0.483																																					p.L442V		Atlas-SNP	.											.	SLC2A14	78	.	0			c.T1324G						PASS	.						50	51	51					12																	7970447		2203	4300	6503	SO:0001583	missense	144195	exon11			AGAGCAATCCGAC	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1324T>G	12.37:g.7970447A>C	ENSP00000440480:p.Leu442Val	Somatic	158	1	0.00632911		WXS	Illumina HiSeq	Phase_I	96	80	0.833333	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325096	0.41197	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	3.31	-2.39	0.06602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.356645	0.29260	N	0.012680	T	0.73892	0.3645	M	0.76938	2.355	0.32386	N	0.553901	P;P;P;P	0.49358	0.923;0.866;0.545;0.549	P;P;B;B	0.52672	0.706;0.619;0.248;0.34	T	0.72090	-0.4395	10	0.66056	D	0.02	.	1.8486	0.03164	0.1194:0.1529:0.244:0.4836	.	457;333;419;442	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	419;442;419;83;442;333;333;457	ENSP00000340450:L419V;ENSP00000440480:L442V;ENSP00000407287:L419V;ENSP00000438484:L83V;ENSP00000379834:L442V;ENSP00000440492:L333V;ENSP00000443903:L333V;ENSP00000445929:L457V	ENSP00000340450:L419V	L	-	1	2	SLC2A14	7861714	0.023000	0.18921	0.519000	0.27824	0.790000	0.44656	0.099000	0.15210	-0.335000	0.08451	0.164000	0.16699	TTG	.	.	none		0.483	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		C	7970447	A	C	7970447	3	2	34	1	0	0	0	0	1	0	0	0	14543	98	4	5	246	5	SLC2A14	12	7970447	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10		7970447	125881448	93	23164										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546314	11546314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctggaggagatcgggcacttTgggacttgttgtctccttgt	14	8	1	1	rs34305575	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:11546314T>C	ENST00000389362.4	-	3	733	c.698A>G	c.(697-699)cAa>cGa	p.Q233R	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	233	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].		Q -> R (in dbSNP:rs34305575).			extracellular region (GO:0005576)		p.Q233R(1)|p.Q212R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGCACTTTGGGACTTGTT	0.602													t|||	1065	0.21266	0.525	0.1513	5008	,	,		19415	0.0942		0.0298	False		,,,				2504	0.1442				p.Q233R		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	prostate(2)	c.A698G						scavenged	.	C	ARG/GLN	2053,2353		493,1067,643	246	269	261		698	-1.2	0	12	dbSNP_126	261	255,8339		12,231,4054	no	missense	PRB2	NM_006248.3	43	505,1298,4697	CC,CT,TT		2.9672,46.5956,17.7538	benign	233/417	11546314	2308,10692	2203	4297	6500	SO:0001583	missense	653247	exon3			GCACTTTGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.698A>G	12.37:g.11546314T>C	ENSP00000374013:p.Gln233Arg	Somatic	1303	18	0.0138143		WXS	Illumina HiSeq	Phase_I	1118	25	0.0223614	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	336	0.15384615384615385	207	0.42073170731707316	55	0.15193370165745856	57	0.09965034965034965	17	0.022427440633245383	.	1.619	-0.522010	0.04171	0.465956	0.029672	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.17	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.14252	T	0.57	.	5.1581	0.15046	0.0:0.2047:0.0:0.7953	rs34305575	233	P02812	PRB2_HUMAN	R	233	ENSP00000374013:Q233R	ENSP00000374013:Q233R	Q	-	2	0	PRB2	11437581	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-0.886000	0.03966	-1.635000	0.00777	CAA	T|0.891;C|0.109	0.109	strong		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546314	T	C	11546314	3	2	34	1	0	0	0	0	1	0	0	0	12443	1812	63	2	556	2	PRB2	12	11546314	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	3575867	11546314	122305581	94	23165										
MGP	4256	hgsc.bcm.edu	37	chr12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	atccataaaccatggcgtagCgttcgcaaagtctgtagtca	9	10	2	0	rs375828646		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:15035143C>T	ENST00000539261.1	-	4	376	c.242G>A	c.(241-243)cGc>cAc	p.R81H	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.R106H	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	81	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463																																					p.R106H		Atlas-SNP	.											MGP,colon,carcinoma,-1,3	MGP	16	3	0			c.G317A						PASS	.						156	148	151					12																	15035143		2203	4300	6503	SO:0001583	missense	4256	exon5			GCGTAGCGTTCGC	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.242G>A	12.37:g.15035143C>T	ENSP00000445907:p.Arg81His	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	137	11	0.080292	NM_001190839	A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662123	0.67700	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	D;D	0.99220	-5.58;-5.58	5.13	4.24	0.50183	Gamma-carboxyglutamic acid-rich (GLA) domain (5);	0.299010	0.32218	N	0.006413	D	0.98538	0.9512	L	0.61036	1.89	0.34062	D	0.657446	D	0.64830	0.994	P	0.55667	0.781	D	0.99940	1.1398	10	0.15066	T	0.55	-1.3297	9.507	0.39053	0.0:0.9048:0.0:0.0952	.	81	P08493	MGP_HUMAN	H	81;106	ENSP00000445907:R81H;ENSP00000228938:R106H	ENSP00000228938:R106H	R	-	2	0	MGP	14926410	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	0.727000	0.25999	1.532000	0.49169	0.655000	0.94253	CGC	.	.	alt		0.463	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		T	15035143	C	T	15035143	3	4	34	1	0	0	0	0	1	0	0	0	9558	768	27	1	73	1	MGP	12	15035143	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	3488829	15035143	118816752	95	23166										
KCNJ8	3764	hgsc.bcm.edu	37	chr12	21918851	21918851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctgaataaggatggaaggttTctcatccagctctcgggcac	11	10	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:21918851T>G	ENST00000240662.2	-	3	1426	c.1081A>C	c.(1081-1083)Aaa>Caa	p.K361Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	361					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	ATGGAAGGTTTCTCATCCAGC	0.458																																					p.K361Q		Atlas-SNP	.											.	KCNJ8	59	.	0			c.A1081C						PASS	.						145	145	145					12																	21918851		2203	4300	6503	SO:0001583	missense	3764	exon3			AAGGTTTCTCATC	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1081A>C	12.37:g.21918851T>G	ENSP00000240662:p.Lys361Gln	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	164	9	0.054878	NM_004982	O00657	Missense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913406	0.72983	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.94138	-3.36	5.43	5.43	0.79202	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	0.94275	0.8161	L	0.48986	1.54	0.54753	D	0.99998	D	0.55800	0.973	P	0.58266	0.836	D	0.92996	0.6419	10	0.29301	T	0.29	.	15.6454	0.77046	0.0:0.0:0.0:1.0	.	361	Q15842	IRK8_HUMAN	Q	361	ENSP00000240662:K361Q	ENSP00000240662:K361Q	K	-	1	0	KCNJ8	21810118	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.010000	0.70753	2.279000	0.76181	0.533000	0.62120	AAA	.	.	none		0.458	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		G	21918851	T	G	21918851	3	3	34	1	0	0	0	0	1	0	0	0	8056	1792	62	5	197	5	KCNJ8	12	21918851	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	6883708	21918851	111933044	96	23167										
DENND5B	160518	hgsc.bcm.edu	37	chr12	31555505	31555505	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccagctctcctgatacacagAtccaagggtttgatgtgatt	9	10	1	4			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:31555505A>T	ENST00000389082.5	-	15	3140	c.2876T>A	c.(2875-2877)aTc>aAc	p.I959N	DENND5B_ENST00000536562.1_Missense_Mutation_p.I994N|DENND5B_ENST00000306833.6_Missense_Mutation_p.I994N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	959	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGATACACAGATCCAAGGGTT	0.403																																					p.I959N		Atlas-SNP	.											.	DENND5B	114	.	0			c.T2876A						PASS	.						168	165	166					12																	31555505		1882	4122	6004	SO:0001583	missense	160518	exon15			ACACAGATCCAAG	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2876T>A	12.37:g.31555505A>T	ENSP00000373734:p.Ile959Asn	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	265	125	0.471698	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193138	0.78902	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.69561	-0.41;-0.41;-0.41	4.2	4.2	0.49525	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.162227	0.43747	D	0.000534	D	0.83608	0.5291	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;D	0.72075	0.976;0.959	D	0.87352	0.2338	10	0.87932	D	0	-21.976	13.4458	0.61140	1.0:0.0:0.0:0.0	.	959;994	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	N	959;994;994	ENSP00000373734:I959N;ENSP00000306482:I994N;ENSP00000444889:I994N	ENSP00000306482:I994N	I	-	2	0	DENND5B	31446772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.831000	0.92068	1.766000	0.52107	0.533000	0.62120	ATC	.	.	none		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		T	31555505	A	T	31555505	3	4	34	1	0	0	0	0	1	0	0	0	4437	333	12	5	976	5	DENND5B	12	31555505	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	9636654	31555505	102296390	97	23168										
ADAMTS20	80070	hgsc.bcm.edu	37	chr12	43846488	43846488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcccacacagtaatttcctcCgtttcttggcctagtcaaat	6	13	2	0	rs375621283		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:43846488C>T	ENST00000389420.3	-	13	1770	c.1771G>A	c.(1771-1773)Gga>Aga	p.G591R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G591R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	591	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G591R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATTTCCTCCGTTTCTTGGC	0.393																																					p.G591R		Atlas-SNP	.											ADAMTS20_ENST00000389420,NS,malignant_melanoma,0,4	ADAMTS20	635	4	2	Substitution - Missense(2)	skin(2)	c.G1771A						PASS	.	C	ARG/GLY	0,4406		0,0,2203	60	52	55		1771	4.7	1	12		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	591/1911	43846488	1,13005	2203	4300	6503	SO:0001583	missense	80070	exon13			TTCCTCCGTTTCT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1771G>A	12.37:g.43846488C>T	ENSP00000374071:p.Gly591Arg	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	86	41	0.476744	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692176	0.88735	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.09163	3.01;3.01	4.7	4.7	0.59300	.	0.000000	0.49916	D	0.000124	T	0.47655	0.1457	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65516	-0.6149	10	0.87932	D	0	.	18.5382	0.91018	0.0:1.0:0.0:0.0	.	591	P59510	ATS20_HUMAN	R	591	ENSP00000374071:G591R;ENSP00000448341:G591R	ENSP00000374068:G591R	G	-	1	0	ADAMTS20	42132755	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.536000	0.85505	0.563000	0.77884	GGA	.	.	weak		0.393	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43846488	C	T	43846488	3	4	34	1	0	0	0	0	1	0	0	0	266	661	23	1	4068	1	ADAMTS20	12	43846488	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	12290983	43846488	90005407	98	23169										
MLL2	8085	hgsc.bcm.edu	37	chr12	49427324	49427324	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	catacgttgctgctgcagctGcagctgcctttcctgtaaaa	9	12	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:49427324G>A	ENST00000301067.7	-	39	11163	c.11164C>T	c.(11164-11166)Cag>Tag	p.Q3722*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3722	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCTGCAGCTGCAGCTGCCTT	0.592																																					p.Q3722X		Atlas-SNP	.											.	MLL2	1173	.	0			c.C11164T						PASS	.						23	28	27					12																	49427324		2182	4289	6471	SO:0001587	stop_gained	8085	exon39			GCAGCTGCAGCTG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11164C>T	12.37:g.49427324G>A	ENSP00000301067:p.Gln3722*	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	38	25	0.657895	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	18.529697	0.99906	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.33180	N	0.005192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6784	0.88236	0.0:0.0:1.0:0.0	.	.	.	.	X	3722	.	ENSP00000301067:Q3722X	Q	-	1	0	MLL2	47713591	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.317000	0.96327	2.547000	0.85894	0.462000	0.41574	CAG	.	.	none		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49427324	G	A	49427324	4	1	34	1	0	0	0	0	0	1	0	0	9621	1328	46	2	5513	2	MLL2	12	49427324	Nonsense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	5580836	49427324	84424571	99	23170										
CELA1	1990	hgsc.bcm.edu	37	chr12	51736400	51736400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttccagtatggatgcaccacGatcttctgcacactcacgta	7	13	3	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:51736400G>A	ENST00000293636.1	-	4	325	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	95	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GATGCACCACGATCTTCTGCA	0.582																																					p.I95I		Atlas-SNP	.											CELA1,NS,carcinoma,0,1	CELA1	39	1	0			c.C285T						PASS	.						197	146	163					12																	51736400		2203	4300	6503	SO:0001819	synonymous_variant	1990	exon4			CACCACGATCTTC		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.285C>T	12.37:g.51736400G>A		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	96	16	0.166667	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	CCDS8812.1																																																																																			.	.	none		0.582	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		A	51736400	G	A	51736400	2	1	34	1	0	0	0	0	0	0	0	1	3210	1048	37	1		1	CELA1	12	51736400	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	2309076	51736400	82115495	100	23171										
KRT86	3892	hgsc.bcm.edu	37	chr12	52699033	52699033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acctcctgcaggagatccgcGttctccagtcccacatctca	7	17	2	1	rs61914259	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:52699033G>A	ENST00000423955.2	+	7	923	c.745G>A	c.(745-747)Gtt>Att	p.V249I	KRT86_ENST00000544024.1_Missense_Mutation_p.V249I|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.V249I			O43790	KRT86_HUMAN	keratin 86	249	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGATCCGCGTTCTCCAGTC	0.567																																					p.V249I		Atlas-SNP	.											KRT86,NS,carcinoma,0,1	KRT86	33	1	0			c.G745A						scavenged	.						146	126	133					12																	52699033		2203	4300	6503	SO:0001583	missense	3892	exon5			ATCCGCGTTCTCC	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.745G>A	12.37:g.52699033G>A	ENSP00000444533:p.Val249Ile	Somatic	93	3	0.0322581		WXS	Illumina HiSeq	Phase_I	115	16	0.13913	NM_002284	P78387	Missense_Mutation	SNP	ENST00000423955.2	37	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123100	0.20959	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.88741	-2.42;-2.42;-2.42	4.69	0.639	0.17747	Filament (1);	0.200519	0.24003	N	0.042444	T	0.79545	0.4464	L	0.39566	1.225	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.61019	-0.7147	10	0.19147	T	0.46	.	5.6128	0.17414	0.3148:0.1288:0.5563:0.0	rs61914259	249	O43790	KRT86_HUMAN	I	249	ENSP00000443169:V249I;ENSP00000444533:V249I;ENSP00000293525:V249I	ENSP00000293525:V249I	V	+	1	0	AC021066.1;KRT86	50985300	0.534000	0.26362	0.012000	0.15200	0.332000	0.28634	2.299000	0.43611	0.091000	0.17302	-0.317000	0.08691	GTT	G|0.695;A|0.305	0.305	strong		0.567	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		A	52699033	G	A	52699033	3	1	34	1	0	0	0	0	1	0	0	0	8500	1145	40	1	763	1	KRT86	12	52699033	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	962633	52699033	81152862	101	23172										
TENC1	23371	hgsc.bcm.edu	37	chr12	53454755	53454756	+	Frame_Shift_Ins	INS	-	-	C													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccctggcaaggccctcgaggINScccccccgacagcccagatg					rs376940195|rs372006021		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:53454755_53454756insC	ENST00000314250.6	+	20	3355_3356	c.3065_3066insC	c.(3064-3069)ggccccfs	p.GP1022fs	TENC1_ENST00000451358.1_Frame_Shift_Ins_p.GP1012fs|TENC1_ENST00000314276.3_Frame_Shift_Ins_p.GP1032fs|TENC1_ENST00000549700.1_Frame_Shift_Ins_p.GP957fs|TENC1_ENST00000379902.3_Frame_Shift_Ins_p.GP898fs|TENC1_ENST00000552570.1_Frame_Shift_Ins_p.GP1022fs|TENC1_ENST00000546602.1_Frame_Shift_Ins_p.GP925fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1022	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCCTCGAGGCCCCCCCGACA	0.688																																					p.G1032fs		Pindel,Atlas-Indel	.											.	TENC1	148	.	0			c.3095_3096insC						PASS	.																																			SO:0001589	frameshift_variant	23371	exon20			.	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3072dupC	12.37:g.53454762_53454762dupC	ENSP00000319684:p.Gly1022fs	Somatic	53	.	.		WXS	Illumina HiSeq	Phase_I	76	18	0.237	NM_015319	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Ins	INS	ENST00000314250.6	37	CCDS8843.1																																																																																			.	.	none		0.688	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		C	53454756	-	C	53454755	7	5	34	1	0	1	1	0	0	0	0	0	15755	1203	42	0	3252	0	TENC1	12	53454755	Frame_Shift_Ins	INS	-	TCGA-GS-A9TY-01A-11D-A38X-10	755722	53454755	80397140	102	23173										
MYL6B	140465	hgsc.bcm.edu	37	chr12	56548600	56548600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcttttttcttccacagatcGagtttaacaaggaccagctg	8	10	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr12:56548600G>A	ENST00000553066.1	+	3	600	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.E60K|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000552568.1_Missense_Mutation_p.E60K|MYL6B_ENST00000550443.1_Missense_Mutation_p.E60K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	60					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TCCACAGATCGAGTTTAACAA	0.532																																					p.E60K		Atlas-SNP	.											.	MYL6B	12	.	0			c.G178A						PASS	.						196	194	195					12																	56548600		2203	4300	6503	SO:0001583	missense	140465	exon3			CAGATCGAGTTTA	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"Myosins / Light chain", "EF-hand domain containing"	29823	protein-coding gene	gene with protein product	"myosin light chain 1 slow a"	609930	"myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.178G>A	12.37:g.56548600G>A	ENSP00000450385:p.Glu60Lys	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	151	61	0.403974	NM_001199629		Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549050	0.45383	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.08	3.16	0.36331	.	0.372052	0.29059	N	0.013270	T	0.78451	0.4285	L	0.49126	1.545	0.43907	D	0.996548	P;B	0.38922	0.651;0.256	B;B	0.31245	0.126;0.024	T	0.79067	-0.1955	10	0.72032	D	0.01	-19.8264	11.6215	0.51121	0.0:0.182:0.818:0.0	.	60;60	B4E368;P14649	.;MYL6B_HUMAN	K	60	ENSP00000450385:E60K;ENSP00000446643:E60K;ENSP00000207437:E60K;ENSP00000446965:E60K	ENSP00000207437:E60K	E	+	1	0	MYL6B	54834867	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.257000	0.72480	1.016000	0.39470	0.491000	0.48974	GAG	.	.	none		0.532	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		A	56548600	G	A	56548600	3	1	34	1	0	0	0	0	1	0	0	0	10052	1059	37	1	184	1	MYL6B	12	56548600	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	3093845	56548600	77303295	103	23174										
PCDH17	27253	hgsc.bcm.edu	37	chr13	58208450	58208450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtgctccccacgctgcagaaCgacaccgcggagctgcaggt	13	15	0	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr13:58208450C>T	ENST00000377918.3	+	1	1796	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCTGCAGAACGACACCGCGG	0.672																																					p.N590N	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.C1770T						PASS	.						33	32	32					13																	58208450		2203	4300	6503	SO:0001819	synonymous_variant	27253	exon1			GCAGAACGACACC	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1770C>T	13.37:g.58208450C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	25	10	0.4	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																			.	.	none		0.672	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		T	58208450	C	T	58208450	2	4	34	1	0	0	0	0	0	0	0	1	11512	535	19	1		1	PCDH17	13	58208450	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		58208450	56961428	104	23175										
HOMEZ	57594	hgsc.bcm.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001				p.E536E		Atlas-SNP	.											.	HOMEZ	80	.	0			c.G1608A						PASS	.						32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	57594	exon2			ATCTTCCTCCTCC	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	70	10	0.142857	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.	.	weak		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744829	C	T	23744829	2	4	34	1	0	0	0	0	0	0	0	1	7281	680	24	2		2	HOMEZ	14	23744829	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		23744829	83604711	105	23176										
SIX4	51804	hgsc.bcm.edu	37	chr14	61186927	61186927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgggtccctgaataaaagaaTttccattaaggaagacaggt	10	6	0	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr14:61186927T>C	ENST00000216513.4	-	2	1159	c.1100A>G	c.(1099-1101)aAt>aGt	p.N367S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	367					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AATAAAAGAATTTCCATTAAG	0.388																																					p.N367S		Atlas-SNP	.											.	SIX4	69	.	0			c.A1100G						PASS	.						83	80	81					14																	61186927		2203	4300	6503	SO:0001583	missense	51804	exon2			AAAGAATTTCCAT	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1100A>G	14.37:g.61186927T>C	ENSP00000216513:p.Asn367Ser	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	142	40	0.28169	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	2.699	-0.271504	0.05716	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.89746	-2.56;1.13	5.62	4.49	0.54785	.	0.333671	0.31624	N	0.007327	T	0.66587	0.2804	N	0.02916	-0.46	0.28150	N	0.929414	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.57429	-0.7813	10	0.06625	T	0.88	.	3.2835	0.06924	0.0:0.2058:0.2126:0.5816	.	359;367	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	367;40;359	ENSP00000216513:N367S;ENSP00000451537:N40S	ENSP00000216513:N367S	N	-	2	0	SIX4	60256680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.575000	0.46025	2.150000	0.67090	0.533000	0.62120	AAT	.	.	none		0.388	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			C	61186927	T	C	61186927	3	2	34	1	0	0	0	0	1	0	0	0	14349	1493	52	2	1253	2	SIX4	14	61186927	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	37442098	61186927	46162613	106	23177										
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641823	99641823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cacttgtagggcttctcgccCgtgtgactgcgccggtgcac	13	14	1	1	rs375880436		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr14:99641823C>T	ENST00000357195.3	-	4	1359	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	BCL11B_ENST00000345514.2_Silent_p.T379T|BCL11B_ENST00000443726.2_Silent_p.T256T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	450					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647			T	TLX3	T-ALL																																p.T450T		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B	108	.	0			c.G1350A						PASS	.	C	,	1,4403	2.1+/-5.4	0,1,2201	29	29	29		1137,1350	0.4	1	14		29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCL11B	NM_022898.1,NM_138576.2	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	379/824,450/895	99641823	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	64919	exon4			CTCGCCCGTGTGA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1350G>A	14.37:g.99641823C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	58	38	0.655172	NM_138576	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.	.	weak		0.647	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99641823	C	T	99641823	2	4	34	1	0	0	0	0	0	0	0	1	1364	639	23	1		1	BCL11B	14	99641823	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	38454896	99641823	7707717	107	23178										
TJP1	7082	hgsc.bcm.edu	37	chr15	30011279	30011279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtgccctgggtgactaacggCtggctgtttcaaaacatggt	13	9	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr15:30011279C>G	ENST00000346128.6	-	21	3541	c.3067G>C	c.(3067-3069)Gcc>Ccc	p.A1023P	TJP1_ENST00000400011.2_Missense_Mutation_p.A947P|TJP1_ENST00000545208.2_Missense_Mutation_p.A943P|TJP1_ENST00000356107.6_Missense_Mutation_p.A1023P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1023					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGACTAACGGCTGGCTGTTTC	0.458																																					p.A1023P	Melanoma(77;681 1843 6309 6570)	Atlas-SNP	.											TJP1,NS,NS,+2,1	TJP1	140	1	0			c.G3067C						PASS	.						194	196	195					15																	30011279		1987	4164	6151	SO:0001583	missense	7082	exon21			TAACGGCTGGCTG		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3067G>C	15.37:g.30011279C>G	ENSP00000281537:p.Ala1023Pro	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	137	111	0.810219	NM_003257	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025747	0.19512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.34	5.93	-0.696	0.11287	.	0.381382	0.27429	N	0.019405	T	0.06280	0.0162	L	0.45581	1.43	0.18873	N	0.999988	B;B;B;B	0.12013	0.005;0.001;0.002;0.0	B;B;B;B	0.09377	0.004;0.002;0.002;0.003	T	0.26950	-1.0088	10	0.40728	T	0.16	.	4.3747	0.11265	0.1004:0.5365:0.1958:0.1673	.	1016;943;1023;947	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1023;947;1023;943;943	ENSP00000281537:A1023P;ENSP00000382890:A947P	ENSP00000281537:A1023P	A	-	1	0	TJP1	27798571	0.070000	0.21116	0.219000	0.23793	0.897000	0.52465	-0.263000	0.08670	0.126000	0.18424	0.563000	0.77884	GCC	.	.	none		0.458	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		G	30011279	C	G	30011279	3	3	34	1	0	0	0	0	1	0	0	0	15926	797	28	4	2211	4	TJP1	15	30011279	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		30011279	72520113	108	23179										
SEMA6D	80031	hgsc.bcm.edu	37	chr15	48062799	48062799	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tttgggggcattcattgcagGtgtggcagtatactgctatc	13	7	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr15:48062799G>C	ENST00000316364.5	+	19	2478	c.2039G>C	c.(2038-2040)gGt>gCt	p.G680A	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G618A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G605A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G680A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G637A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G618A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G661A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G624A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G618A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	680					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCATTGCAGGTGTGGCAGTA	0.483																																					p.G680A		Atlas-SNP	.											SEMA6D_ENST00000558014,NS,adenocarcinoma,0,2	SEMA6D	322	2	0			c.G2039C						PASS	.						140	134	136					15																	48062799		2198	4297	6495	SO:0001583	missense	80031	exon19			TTGCAGGTGTGGC	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2039G>C	15.37:g.48062799G>C	ENSP00000324857:p.Gly680Ala	Somatic	258	1	0.00387597		WXS	Illumina HiSeq	Phase_I	173	141	0.815029	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021097	0.75275	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.993;0.993;1.0;0.993	P;P;D;P	0.91635	0.822;0.822;0.999;0.822	D	0.83718	0.0191	10	0.62326	D	0.03	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	605;624;680;618	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	A	618;680;680;661;637;624;618;605	ENSP00000442040:G618A;ENSP00000446152:G680A;ENSP00000324857:G680A;ENSP00000374084:G661A;ENSP00000374083:G637A;ENSP00000346786:G624A;ENSP00000350770:G618A;ENSP00000374079:G605A	ENSP00000324857:G680A	G	+	2	0	SEMA6D	45850091	1.000000	0.71417	0.947000	0.38551	0.934000	0.57294	7.515000	0.81761	2.850000	0.98022	0.655000	0.94253	GGT	.	.	none		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		C	48062799	G	C	48062799	3	2	34	1	0	0	0	0	1	0	0	0	14042	1261	44	4	2152	4	SEMA6D	15	48062799	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	18051520	48062799	54468593	109	23180										
IDH3A	3419	hgsc.bcm.edu	37	chr15	78453926	78453926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tttcttctgtataacaggccCtttgaagaccccaatagcag	7	11	2	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr15:78453926C>T	ENST00000299518.2	+	5	376	c.293C>T	c.(292-294)cCt>cTt	p.P98L	IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_5'UTR|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	98					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						ATAACAGGCCCTTTGAAGACC	0.468																																					p.P98L		Atlas-SNP	.											.	IDH3A	24	.	0			c.C293T						PASS	.						94	86	89					15																	78453926		2196	4293	6489	SO:0001583	missense	3419	exon5			CAGGCCCTTTGAA		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.293C>T	15.37:g.78453926C>T	ENSP00000299518:p.Pro98Leu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	45	15	0.333333	NM_005530	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253008	0.80135	.	.	ENSG00000166411	ENST00000299518	T	0.71222	-0.55	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91725	0.5392	10	0.87932	D	0	-13.8159	19.5254	0.95203	0.0:1.0:0.0:0.0	.	98	P50213	IDH3A_HUMAN	L	98	ENSP00000299518:P98L	ENSP00000299518:P98L	P	+	2	0	IDH3A	76240981	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.608000	0.82898	2.857000	0.98124	0.650000	0.86243	CCT	.	.	none		0.468	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		T	78453926	C	T	78453926	3	4	34	1	0	0	0	0	1	0	0	0	7496	681	24	2	311	2	IDH3A	15	78453926	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	30391127	78453926	24077466	110	23181										
IFT140	9742	hgsc.bcm.edu	37	chr16	1652418	1652418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	actggggctccaacggagcaCggtgatgtcggctgtgtgtg	17	9	0	1	rs146128830	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr16:1652418C>T	ENST00000426508.2	-	4	685	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	108					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAACGGAGCACGGTGATGTCG	0.582													C|||	14	0.00279553	0.0023	0.0029	5008	,	,		17970	0.0		0.007	False		,,,				2504	0.002				p.V108M		Atlas-SNP	.											IFT140,NS,carcinoma,0,1	IFT140	128	1	0			c.G322A						PASS	.	C	MET/VAL	12,4386	19.1+/-41.9	0,12,2187	110	80	90		322	-1.2	0	16	dbSNP_134	90	81,8519	47.6+/-106.9	0,81,4219	yes	missense	IFT140	NM_014714.3	21	0,93,6406	TT,TC,CC		0.9419,0.2729,0.7155	possibly-damaging	108/1463	1652418	93,12905	2199	4300	6499	SO:0001583	missense	9742	exon4			GGAGCACGGTGAT	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.322G>A	16.37:g.1652418C>T	ENSP00000406012:p.Val108Met	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	94	38	0.404255	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	11.51	1.660137	0.29515	0.002729	0.009419	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.60299	0.7;0.2	4.83	-1.19	0.09585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.456706	0.22233	N	0.062786	T	0.56790	0.2009	M	0.78801	2.425	0.24640	N	0.993577	D	0.59357	0.985	P	0.56042	0.79	T	0.58126	-0.7691	10	0.32370	T	0.25	.	9.8005	0.40761	0.0:0.4051:0.0:0.5949	.	108	Q96RY7	IF140_HUMAN	M	108	ENSP00000380562:V108M;ENSP00000406012:V108M	ENSP00000380562:V108M	V	-	1	0	IFT140	1592419	0.004000	0.15560	0.008000	0.14137	0.004000	0.04260	-0.032000	0.12266	-0.555000	0.06142	0.561000	0.74099	GTG	C|0.993;T|0.007	0.007	strong		0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1652418	C	T	1652418	3	4	34	1	0	0	0	0	1	0	0	0	7556	536	19	1	4178	1	IFT140	16	1652418	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		1652418	88702335	111	23182										
CP110	9738	hgsc.bcm.edu	37	chr16	19554242	19554242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	caaaatttaacaaaataactGcagtggcaaaaggatttctt	6	6	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr16:19554242G>C	ENST00000381396.5	+	8	2657	c.2410G>C	c.(2410-2412)Gca>Cca	p.A804P	CCP110_ENST00000396212.2_Missense_Mutation_p.A804P|CCP110_ENST00000396208.2_Missense_Mutation_p.A804P	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	804	Calmodulin-binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAAATAACTGCAGTGGCAAA	0.333																																					p.A804P		Atlas-SNP	.											.	CCP110	57	.	0			c.G2410C						PASS	.						96	97	97					16																	19554242		2197	4300	6497	SO:0001583	missense	9738	exon8			ATAACTGCAGTGG	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2410G>C	16.37:g.19554242G>C	ENSP00000370803:p.Ala804Pro	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	183	10	0.0546448	NM_001199022	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534605	0.85812	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.46819	0.87;0.86;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75614	-0.3257	10	0.87932	D	0	-0.8444	19.7559	0.96291	0.0:0.0:1.0:0.0	.	804;804	O43303;O43303-2	CP110_HUMAN;.	P	804	ENSP00000379515:A804P;ENSP00000370803:A804P;ENSP00000379511:A804P	ENSP00000370803:A804P	A	+	1	0	CCP110	19461743	1.000000	0.71417	0.970000	0.41538	0.899000	0.52679	7.591000	0.82666	2.656000	0.90262	0.655000	0.94253	GCA	.	.	none		0.333	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		C	19554242	G	C	19554242	3	2	34	1	0	0	0	0	1	0	0	0	3788	1319	46	4	2436	4	CP110	16	19554242	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	17901824	19554242	70800511	112	23183										
SCNN1G	6340	hgsc.bcm.edu	37	chr16	23200702	23200702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	accttggcaggtacagcaccGttcgccaccttctagctgac	9	15	1	1	rs147276737	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr16:23200702G>A	ENST00000300061.2	+	3	471	c.328G>A	c.(328-330)Gtt>Att	p.V110I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	110					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTACAGCACCGTTCGCCACCT	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		17010	0.0		0.0	False		,,,				2504	0.0031				p.V110I		Atlas-SNP	.											.	SCNN1G	82	.	0			c.G328A						PASS	.	G	ILE/VAL	1,4393	2.1+/-5.4	0,1,2196	65	68	67		328	6	0.1	16	dbSNP_134	67	0,8600		0,0,4300	yes	missense	SCNN1G	NM_001039.3	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	110/650	23200702	1,12993	2197	4300	6497	SO:0001583	missense	6340	exon3			AGCACCGTTCGCC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.328G>A	16.37:g.23200702G>A	ENSP00000300061:p.Val110Ile	Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	25	13	0.52	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	2.346	-0.349973	0.05173	2.28E-4	0.0	ENSG00000166828	ENST00000300061	T	0.63096	-0.02	6.04	6.04	0.98038	.	0.247869	0.34603	N	0.003824	T	0.39009	0.1062	N	0.11927	0.2	0.27873	N	0.939975	B	0.24882	0.113	B	0.15484	0.013	T	0.20472	-1.0274	10	0.11485	T	0.65	-2.2978	10.7521	0.46216	0.0889:0.0:0.9111:0.0	.	110	P51170	SCNNG_HUMAN	I	110	ENSP00000300061:V110I	ENSP00000300061:V110I	V	+	1	0	SCNN1G	23108203	0.998000	0.40836	0.088000	0.20740	0.251000	0.25915	3.219000	0.51200	2.873000	0.98535	0.561000	0.74099	GTT	G|1.000;A|0.000	0.000	weak		0.607	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23200702	G	A	23200702	3	1	34	1	0	0	0	0	1	0	0	0	13930	1145	40	1	334	1	SCNN1G	16	23200702	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	3646460	23200702	67154051	113	23184										
IRF8	3394	hgsc.bcm.edu	37	chr16	85942659	85942659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctgaaccagccacttggaagAcgaggttacgctgtgctttg	12	10	0	2	rs397514711		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr16:85942659A>G	ENST00000268638.5	+	3	660	c.238A>G	c.(238-240)Acg>Gcg	p.T80A	IRF8_ENST00000563180.1_Missense_Mutation_p.T80A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	80			T -> A (in IMD32A; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA). {ECO:0000269|PubMed:21524210}.		cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CACTTGGAAGACGAGGTTACG	0.458																																					p.T80A		Atlas-SNP	.											IRF8,NS,neuroblastoma,-1,1	IRF8	65	1	0			c.A238G						scavenged	.						74	76	75					16																	85942659		2198	4300	6498	SO:0001583	missense	3394	exon3			TGGAAGACGAGGT	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.238A>G	16.37:g.85942659A>G	ENSP00000268638:p.Thr80Ala	Somatic	88	1	0.0113636		WXS	Illumina HiSeq	Phase_I	101	64	0.633663	NM_002163	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763543	0.69878	.	.	ENSG00000140968	ENST00000268638	D	0.97688	-4.49	4.88	4.88	0.63580	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.046894	0.85682	D	0.000000	D	0.97791	0.9275	L	0.45470	1.425	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.996	D	0.97383	0.9984	10	0.30854	T	0.27	-15.9347	14.7789	0.69751	1.0:0.0:0.0:0.0	.	80;80	B2R8V7;Q02556	.;IRF8_HUMAN	A	80	ENSP00000268638:T80A	ENSP00000268638:T80A	T	+	1	0	IRF8	84500160	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.780000	0.91799	1.973000	0.57446	0.397000	0.26171	ACG	.	.	none		0.458	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		G	85942659	A	G	85942659	3	3	34	1	0	0	0	0	1	0	0	0	7836	275	10	2	244	2	IRF8	16	85942659	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	62741957	85942659	4412094	114	23185										
ANKFY1	51479	hgsc.bcm.edu	37	chr17	4071128	4071128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaatgttgcaaacccgcacaGgcttgttcagatcaaacttt	7	10	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:4071128G>A	ENST00000341657.4	-	25	3490	c.3455C>T	c.(3454-3456)cCt>cTt	p.P1152L	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P1194L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.P1153L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1152					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AACCCGCACAGGCTTGTTCAG	0.502																																					p.P1194L		Atlas-SNP	.											.	ANKFY1	81	.	0			c.C3581T						PASS	.						62	67	65					17																	4071128		1883	4107	5990	SO:0001583	missense	51479	exon25			CGCACAGGCTTGT	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3455C>T	17.37:g.4071128G>A	ENSP00000343362:p.Pro1152Leu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	27	0.72973	NM_001257999	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.788564	0.90367	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.88	4.88	0.63580	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86167	0.1597	9	0.72032	D	0.01	-14.4331	17.5598	0.87902	0.0:0.0:1.0:0.0	.	1094;1152;1153;1194	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	L	1153;1094	.	ENSP00000343362:P1153L	P	-	2	0	ANKFY1	4017877	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.567000	0.98161	2.697000	0.92050	0.563000	0.77884	CCT	.	.	none		0.502	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		A	4071128	G	A	4071128	3	1	34	1	0	0	0	0	1	0	0	0	626	1000	35	2	58	2	ANKFY1	17	4071128	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		4071128	77124082	115	23186										
TP53	7157	hgsc.bcm.edu	37	chr17	7577586	7577586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tacacatgtagttgtagtggAtggtggtacagtcagagcca	13	6	1	1	rs587781589		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:7577586A>G	ENST00000269305.4	-	7	884	c.695T>C	c.(694-696)aTc>aCc	p.I232T	TP53_ENST00000445888.2_Missense_Mutation_p.I232T|TP53_ENST00000455263.2_Missense_Mutation_p.I232T|TP53_ENST00000420246.2_Missense_Mutation_p.I232T|TP53_ENST00000413465.2_Missense_Mutation_p.I232T|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.I232T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGTAGTGGATGGTGGTACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.I232T	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,carcinoma,0,67	TP53	33396	67	46	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Insertion - In frame(4)|Insertion - Frameshift(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|endometrium(4)|breast(4)|NS(4)|bone(4)|lung(3)|oesophagus(3)|liver(3)|stomach(2)|central_nervous_system(2)|ovary(2)|thymus(1)	c.T695C						PASS	.						113	90	98					17																	7577586		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	TAGTGGATGGTGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.695T>C	17.37:g.7577586A>G	ENSP00000269305:p.Ile232Thr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	40	34	0.85	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370793	0.82573	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99807	-6.85;-6.85;-6.85;-6.85;-6.85;-6.85;-6.85;-6.85	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.174276	0.51477	D	0.000096	D	0.99697	0.9885	M	0.85630	2.765	0.53005	D	0.99996	B;B;B;B;B;B	0.32781	0.327;0.032;0.106;0.12;0.21;0.384	P;B;B;P;P;B	0.53401	0.601;0.065;0.193;0.725;0.614;0.153	D	0.96603	0.9446	10	0.72032	D	0.01	-25.5076	12.3101	0.54924	1.0:0.0:0.0:0.0	.	232;232;139;232;232;232	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	T	232;232;232;232;232;232;221;139;100;139	ENSP00000410739:I232T;ENSP00000352610:I232T;ENSP00000269305:I232T;ENSP00000398846:I232T;ENSP00000391127:I232T;ENSP00000391478:I232T;ENSP00000425104:I100T;ENSP00000423862:I139T	ENSP00000269305:I232T	I	-	2	0	TP53	7518311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.061000	0.93913	2.074000	0.62210	0.379000	0.24179	ATC	.	.	none		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577586	A	G	7577586	3	3	34	1	0	0	0	0	1	0	0	0	16378	333	12	2	595	2	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	3506458	7577586	73617624	116	23187										
CHD3	1107	hgsc.bcm.edu	37	chr17	7798425	7798425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcattgtctaaaccctccccTgcctgacattcccaatggtg	6	15	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:7798425T>C	ENST00000330494.7	+	9	1610	c.1460T>C	c.(1459-1461)cTg>cCg	p.L487P	CHD3_ENST00000358181.4_Missense_Mutation_p.L487P|CHD3_ENST00000380358.4_Missense_Mutation_p.L546P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	487					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AACCCTCCCCTGCCTGACATT	0.557																																					p.L546P		Atlas-SNP	.											.	CHD3	169	.	0			c.T1637C						PASS	.						257	184	209					17																	7798425		2203	4300	6503	SO:0001583	missense	1107	exon9			CTCCCCTGCCTGA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1460T>C	17.37:g.7798425T>C	ENSP00000332628:p.Leu487Pro	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	51	37	0.72549	NM_001005271	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077973	0.36662	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.55930	0.49;0.49;0.49	5.01	5.01	0.66863	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Chromo domain-like (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.32231	N	0.006382	T	0.80844	0.4701	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	-13.9037	14.5551	0.68094	0.0:0.0:0.0:1.0	.	487;487;546	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	546;487;487	ENSP00000369716:L546P;ENSP00000350907:L487P;ENSP00000332628:L487P	ENSP00000332628:L487P	L	+	2	0	CHD3	7739150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.110000	0.64415	0.459000	0.35465	CTG	.	.	none		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		C	7798425	T	C	7798425	3	2	34	1	0	0	0	0	1	0	0	0	3326	1580	55	3	1775	3	CHD3	17	7798425	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	220839	7798425	73396785	117	23188										
DRG2	1819	hgsc.bcm.edu	37	chr17	18003008	18003008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gctgacgtcatcatcatgatGctggatgccaccaagggaga	12	10	3	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:18003008G>A	ENST00000225729.3	+	5	576	c.438G>A	c.(436-438)atG>atA	p.M146I	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.M146I	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	146	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TCATCATGATGCTGGATGCCA	0.617																																					p.M146I		Atlas-SNP	.											.	DRG2	27	.	0			c.G438A						PASS	.						56	41	46					17																	18003008		2203	4300	6503	SO:0001583	missense	1819	exon5			CATGATGCTGGAT	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.438G>A	17.37:g.18003008G>A	ENSP00000225729:p.Met146Ile	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	67	52	0.776119	NM_001388	B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708499	0.68615	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.15834	2.39;2.39	5.6	5.6	0.85130	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.13098	0.295	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.28709	0.093;0.056	T	0.10132	-1.0643	10	0.52906	T	0.07	-40.0835	19.5973	0.95546	0.0:0.0:1.0:0.0	.	146;146	A8MZF9;P55039	.;DRG2_HUMAN	I	146	ENSP00000379076:M146I;ENSP00000225729:M146I	ENSP00000225729:M146I	M	+	3	0	DRG2	17943733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.744000	0.98853	2.640000	0.89533	0.467000	0.42956	ATG	.	.	none		0.617	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		A	18003008	G	A	18003008	3	1	34	1	0	0	0	0	1	0	0	0	4762	1319	46	2	456	2	DRG2	17	18003008	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	10204583	18003008	63192202	118	23189										
SMCR8	140775	hgsc.bcm.edu	37	chr17	18220580	18220580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aatctgacagccaggcaagcCtcacagtaccattgagcccc	8	15	2	2	rs113043428		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:18220580C>T	ENST00000406438.3	+	1	1957	c.1477C>T	c.(1477-1479)Ctc>Ttc	p.L493F	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	493						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGCAAGCCTCACAGTACC	0.517																																					p.L493F		Atlas-SNP	.											.	SMCR8	62	.	0			c.C1477T						PASS	.						58	61	60					17																	18220580		2203	4300	6503	SO:0001583	missense	140775	exon1			GCAAGCCTCACAG	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1477C>T	17.37:g.18220580C>T	ENSP00000385025:p.Leu493Phe	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	29	24	0.827586	NM_144775	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705015	0.48412	.	.	ENSG00000176994	ENST00000406438	T	0.26223	1.75	5.73	4.68	0.58851	.	0.165285	0.39020	N	0.001492	T	0.30978	0.0782	L	0.32530	0.975	0.34570	D	0.713376	D	0.71674	0.998	P	0.61940	0.896	T	0.32824	-0.9892	10	0.44086	T	0.13	-37.0014	6.4655	0.21980	0.0:0.7155:0.0:0.2845	.	493	Q8TEV9	SMCR8_HUMAN	F	493	ENSP00000385025:L493F	ENSP00000385025:L493F	L	+	1	0	SMCR8	18161305	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.932000	0.40143	2.700000	0.92200	0.655000	0.94253	CTC	C|0.500;T|0.500	0.500	weak		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		T	18220580	C	T	18220580	3	4	34	1	0	0	0	0	1	0	0	0	14792	681	24	2	1479	2	SMCR8	17	18220580	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	217572	18220580	62974630	119	23190										
CWC25	54883	hgsc.bcm.edu	37	chr17	36971290	36971290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gggcgccccagcaggtactcGtcacggttcaccatcccacc	10	18	2	0	rs202146970		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:36971290G>A	ENST00000225428.5	-	3	549	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CWC25_ENST00000536127.1_Silent_p.D21D	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	84										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCAGGTACTCGTCACGGTTCA	0.463																																					p.D84D		Atlas-SNP	.											.	CWC25	24	.	0			c.C252T						PASS	.						134	135	135					17																	36971290		1907	4114	6021	SO:0001819	synonymous_variant	54883	exon3			GTACTCGTCACGG	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.252C>T	17.37:g.36971290G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	112	93	0.830357	NM_017748	A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	CCDS45663.1																																																																																			G|0.998;A|0.002	0.002	weak		0.463	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		A	36971290	G	A	36971290	2	1	34	1	0	0	0	0	0	0	0	1	4069	1136	40	1		1	CWC25	17	36971290	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	18750710	36971290	44223920	120	23191										
BRCA1	672	hgsc.bcm.edu	37	chr17	41234477	41234477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctcaagggcagaagagtcaCttatgatggaagggtagctg	14	7	2	3	rs80357790		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:41234477C>T	ENST00000357654.3	-	12	4419	c.4301G>A	c.(4300-4302)aGt>aAt	p.S1434N	BRCA1_ENST00000351666.3_Missense_Mutation_p.S251N|BRCA1_ENST00000471181.2_Missense_Mutation_p.S1434N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S1138N|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1434N|BRCA1_ENST00000352993.3_Missense_Mutation_p.S292N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1387N|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1434N|BRCA1_ENST00000468300.1_Missense_Mutation_p.S331N|BRCA1_ENST00000491747.2_Missense_Mutation_p.S331N|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1434					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGAGTCACTTATGATGGA	0.438			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.S1434N		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	BRCA1,colon,carcinoma,+1,1	BRCA1	304	1	0			c.G4301A	GRCh37	CI992787	BRCA1	I	rs80357790	PASS	.						231	200	211					17																	41234477		2203	4300	6503	SO:0001583	missense	672	exon12	Familial Cancer Database		GAGTCACTTATGA	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4301G>A	17.37:g.41234477C>T	ENSP00000350283:p.Ser1434Asn	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	113	67	0.59292	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.24|13.24	2.177284|2.177284	0.38413|0.38413	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825|ENST00000461574	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56444|.	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46|.	5.36|5.36	-0.256|-0.256	0.12984|0.12984	.|.	1.181740|.	0.06245|.	N|.	0.691021|.	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.25007|.	0.023;0.026;0.007;0.116;0.007;0.003;0.007;0.005|.	B;B;B;B;B;B;B;B|.	0.26310|.	0.006;0.022;0.003;0.068;0.006;0.006;0.006;0.014|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.87932|.	D|.	0|.	0.1751|0.1751	4.5419|4.5419	0.12061|0.12061	0.0744:0.3923:0.3021:0.2313|0.0744:0.3923:0.3021:0.2313	.|.	330;284;330;331;331;1434;1434;1434|.	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;BRCA1_HUMAN;.|.	N|M	1434;1434;1434;292;1434;251;1138;331;284;1434;1387;330;330;205;284;206|199	ENSP00000350283:S1434N;ENSP00000326002:S1434N;ENSP00000312236:S292N;ENSP00000246907:S1434N;ENSP00000338007:S251N;ENSP00000310938:S1138N;ENSP00000417148:S331N;ENSP00000377294:S284N;ENSP00000418960:S1434N;ENSP00000418775:S1387N;ENSP00000420412:S330N;ENSP00000419481:S205N;ENSP00000418819:S284N;ENSP00000418212:S206N|.	ENSP00000310938:S1138N|.	S|V	-|-	2|1	0|0	BRCA1|BRCA1	38488003|38488003	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.169000|0.169000	0.22640|0.22640	-0.157000|-0.157000	0.10085|0.10085	-0.122000|-0.122000	0.11766|0.11766	-0.133000|-0.133000	0.14855|0.14855	AGT|GTG	.	.	none		0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		T	41234477	C	T	41234477	3	4	34	1	0	0	0	0	1	0	0	0	1498	565	20	2	1408	2	BRCA1	17	41234477	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	4263187	41234477	39960733	121	23192										
HOXB5	3215	hgsc.bcm.edu	37	chr17	46669811	46669811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcccttttcccgtccggcccGgtcatatctggagcagatag	11	14	2	1	rs201570571		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:46669811G>A	ENST00000239151.5	-	2	848	c.570C>T	c.(568-570)acC>acT	p.T190T	HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000460160.1_5'Flank|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000476342.1_5'Flank	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	190					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						CGTCCGGCCCGGTCATATCTG	0.642																																					p.T190T		Atlas-SNP	.											.	HOXB5	20	.	0			c.C570T						PASS	.						37	38	37					17																	46669811		2203	4300	6503	SO:0001819	synonymous_variant	3215	exon2			CGGCCCGGTCATA		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.570C>T	17.37:g.46669811G>A		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	60	29	0.483333	NM_002147	B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	CCDS11530.1																																																																																			G|1.000;C|0.000	.	alt		0.642	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			A	46669811	G	A	46669811	2	1	34	1	0	0	0	0	0	0	0	1	7304	1103	39	1		1	HOXB5	17	46669811	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	5435334	46669811	34525399	122	23193										
EXOC7	23265	hgsc.bcm.edu	37	chr17	74093984	74093984	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctcctgggcctccagatcaTcgtcaccactgatcagatcc	7	17	3	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:74093984T>A	ENST00000335146.7	-	5	586	c.533A>T	c.(532-534)gAt>gTt	p.D178V	EXOC7_ENST00000332065.5_Missense_Mutation_p.D178V|EXOC7_ENST00000411744.2_Missense_Mutation_p.D178V|EXOC7_ENST00000467929.2_Missense_Mutation_p.D137V|EXOC7_ENST00000405575.4_Missense_Mutation_p.D178V|EXOC7_ENST00000607838.1_Missense_Mutation_p.D178V|EXOC7_ENST00000589210.1_Missense_Mutation_p.D178V			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	178					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCAGATCATCGTCACCACT	0.622																																					p.D178V		Atlas-SNP	.											.	EXOC7	47	.	0			c.A533T						PASS	.						118	99	105					17																	74093984		2203	4300	6503	SO:0001583	missense	23265	exon5			AGATCATCGTCAC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.533A>T	17.37:g.74093984T>A	ENSP00000334100:p.Asp178Val	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	120	45	0.375	NM_001145298	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739769	0.69304	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.99	4.99	0.66335	Cullin repeat-like-containing domain (1);	0.157795	0.56097	D	0.000037	T	0.50956	0.1646	L	0.34521	1.04	0.80722	D	1	B;B;B;B;P;B;P;B	0.48089	0.04;0.001;0.007;0.244;0.675;0.043;0.905;0.073	B;B;B;B;B;B;P;B	0.50270	0.233;0.007;0.037;0.224;0.228;0.117;0.636;0.18	T	0.49123	-0.8972	9	0.38643	T	0.18	-16.317	13.4177	0.60979	0.0:0.0:0.0:1.0	.	178;178;137;137;178;178;178;178	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	V	178;98;178;178;178;137;178;178;63	.	ENSP00000333806:D178V	D	-	2	0	EXOC7	71605579	1.000000	0.71417	0.266000	0.24541	0.420000	0.31355	5.760000	0.68793	2.101000	0.63845	0.460000	0.39030	GAT	.	.	none		0.622	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74093984	T	A	74093984	3	1	34	1	0	0	0	0	1	0	0	0	5310	1435	50	5	1738	5	EXOC7	17	74093984	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	27424173	74093984	7101226	123	23194										
FAM100B	283991	hgsc.bcm.edu	37	chr17	74262008	74262008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	accgcgctgagcacgttcttCcaagaaaccaacattcccaa	6	15	1	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:74262008C>T	ENST00000327490.6	+	2	445	c.141C>T	c.(139-141)ttC>ttT	p.F47F	UBALD2_ENST00000589240.1_5'UTR	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	47																	GCACGTTCTTCCAAGAAACCA	0.701																																					p.F47F		Atlas-SNP	.											.	.	.	.	0			c.C141T						PASS	.						31	28	29					17																	74262008		2199	4297	6496	SO:0001819	synonymous_variant	283991	exon2			GTTCTTCCAAGAA		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.141C>T	17.37:g.74262008C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	57	10	0.175439	NM_182565		Silent	SNP	ENST00000327490.6	37	CCDS11742.1																																																																																			.	.	none		0.701	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		T	74262008	C	T	74262008	2	4	34	1	0	0	0	0	0	0	0	1	5379	854	30	2		2	FAM100B	17	74262008	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	168024	74262008	6933202	124	23195										
CCDC40	55036	hgsc.bcm.edu	37	chr17	78032381	78032381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gacatgcgtgacgacatccgCgtgatgacacaagtggtaaa	12	9	0	3	rs375199947		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr17:78032381C>T	ENST00000397545.4	+	8	1275	c.1248C>T	c.(1246-1248)cgC>cgT	p.R416R	CCDC40_ENST00000374876.4_Silent_p.R416R|CCDC40_ENST00000269318.5_Silent_p.R416R|CCDC40_ENST00000374877.3_Silent_p.R416R	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	416					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACGACATCCGCGTGATGACAC	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21045	0.0		0.0	False		,,,				2504	0.0				p.R416R		Atlas-SNP	.											.	CCDC40	198	.	0			c.C1248T						PASS	.	C		1,4213		0,1,2106	67	71	70		1248	-7.1	0	17		70	4,8450		0,4,4223	no	coding-synonymous	CCDC40	NM_017950.3		0,5,6329	TT,TC,CC		0.0473,0.0237,0.0395		416/1143	78032381	5,12663	2107	4227	6334	SO:0001819	synonymous_variant	55036	exon8			CATCCGCGTGATG	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1248C>T	17.37:g.78032381C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	84	48	0.571429	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																			.	.	weak		0.532	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78032381	C	T	78032381	2	4	34	1	0	0	0	0	0	0	0	1	2812	755	27	1		1	CCDC40	17	78032381	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	3770373	78032381	3162829	125	23196										
KIAA1468	57614	hgsc.bcm.edu	37	chr18	59936160	59936160	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtccccatttatgcaacaggAgtccttacgtgttatattca	7	10	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr18:59936160A>T	ENST00000398130.2	+	20	2971	c.2739A>T	c.(2737-2739)ggA>ggT	p.G913G	KIAA1468_ENST00000256858.6_Silent_p.G913G	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	913										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATGCAACAGGAGTCCTTACGT	0.318																																					p.G913G		Atlas-SNP	.											.	KIAA1468	93	.	0			c.A2739T						PASS	.						48	49	48					18																	59936160		2203	4298	6501	SO:0001819	synonymous_variant	57614	exon20			AACAGGAGTCCTT	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2739A>T	18.37:g.59936160A>T		Somatic	521	0	0		WXS	Illumina HiSeq	Phase_I	285	216	0.757895	NM_020854		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																			.	.	none		0.318	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		T	59936160	A	T	59936160	2	4	34	1	0	0	0	0	0	0	0	1	8236	291	11	5		5	KIAA1468	18	59936160	Silent	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10		59936160	18141088	126	23197										
ZADH2	284273	hgsc.bcm.edu	37	chr18	72914061	72914061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	accagcagggtaagatactcGggtttcactgagggcactgg	14	9	1	2	rs370732101		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr18:72914061G>A	ENST00000322342.3	-	2	733	c.444C>T	c.(442-444)ccC>ccT	p.P148P	ZADH2_ENST00000537114.2_Silent_p.P25P	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	148						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.P148P(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TAAGATACTCGGGTTTCACTG	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.0				p.P148P		Atlas-SNP	.											.	ZADH2	25	.	1	Substitution - coding silent(1)	lung(1)	c.C444T						PASS	.	G		0,4406		0,0,2203	242	251	248		444	-10.9	0.3	18		248	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZADH2	NM_175907.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		148/378	72914061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284273	exon2			ATACTCGGGTTTC	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.444C>T	18.37:g.72914061G>A		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	50	16	0.32	NM_175907	A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	CCDS12008.1																																																																																			.	.	weak		0.527	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		A	72914061	G	A	72914061	2	1	34	1	0	0	0	0	0	0	0	1	17508	1103	39	1		1	ZADH2	18	72914061	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	12977901	72914061	5163187	127	23198										
CD320	51293	hgsc.bcm.edu	37	chr19	8369939	8369939	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ctcctcctcatcgctgccatCgctgcagtccaagtccctgt	7	18	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:8369939C>G	ENST00000301458.5	-	2	308	c.244G>C	c.(244-246)Gat>Cat	p.D82H	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	82	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TCGCTGCCATCGCTGCAGTCC	0.687																																					p.D82H		Atlas-SNP	.											.	CD320	20	.	0			c.G244C						PASS	.						50	48	49					19																	8369939		2203	4300	6503	SO:0001583	missense	51293	exon2			TGCCATCGCTGCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.244G>C	19.37:g.8369939C>G	ENSP00000301458:p.Asp82His	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	26	9	0.346154	NM_016579	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860981	0.51482	.	.	ENSG00000167775	ENST00000301458	D	0.97620	-4.46	4.87	4.87	0.63330	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.136815	0.33591	N	0.004757	D	0.98741	0.9577	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99184	1.0868	10	0.87932	D	0	-17.2415	14.2342	0.65913	0.0:1.0:0.0:0.0	.	82	Q9NPF0	CD320_HUMAN	H	82	ENSP00000301458:D82H	ENSP00000301458:D82H	D	-	1	0	CD320	8275939	0.938000	0.31826	0.648000	0.29521	0.001000	0.01503	2.947000	0.49058	2.644000	0.89710	0.655000	0.94253	GAT	.	.	none		0.687	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		G	8369939	C	G	8369939	3	3	34	1	0	0	0	0	1	0	0	0	3004	884	31	4	620	4	CD320	19	8369939	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10		8369939	50759044	128	23199										
MBD3L1	85509	hgsc.bcm.edu	37	chr19	8953842	8953845	+	Frame_Shift_Del	DEL	CAGT	CAGT	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acaggaagggaaagtgaagaCagtcagagagagactcgcaa							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	CAGT	CAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:8953842_8953845delCAGT	ENST00000595891.1	+	3	719_722	c.488_491delCAGT	c.(487-492)acagtcfs	p.TV163fs	MBD3L1_ENST00000305625.2_Frame_Shift_Del_p.TV163fs			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						AAAGTGAAGACAGTCAGAGAGAGA	0.471																																					p.163_164del		Pindel,Atlas-Indel	.											.	MBD3L1	24	.	0			c.487_490del						PASS	.																																			SO:0001589	frameshift_variant	85509	exon1			.	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.488_491delCAGT	19.37:g.8953842_8953845delCAGT	ENSP00000471575:p.Thr163fs	Somatic	58	.	.		WXS	Illumina HiSeq	Phase_I	70	16	0.229	NM_145208	B5BUM6|Q2M291	Frame_Shift_Del	DEL	ENST00000595891.1	37	CCDS12209.1																																																																																			.	.	none		0.471	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		-	8953845	CAGT	-	8953842	7	5	34	1	0	1	0	1	0	0	0	0	9345	478	17	0	490	0	MBD3L1	19	8953842	Frame_Shift_Del	DEL	CAGT	TCGA-GS-A9TY-01A-11D-A38X-10	583903	8953842	50175141	129	23200										
MUC16	94025	hgsc.bcm.edu	37	chr19	9033694	9033694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcgtactgcaggttggtgatGgtgaagttgagggtgaatgg	18	3	0	4	rs200620444	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:9033694G>A	ENST00000397910.4	-	9	36446	c.36243C>T	c.(36241-36243)acC>acT	p.T12081T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12083	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGGTGATGGTGAAGTTGA	0.557																																					p.T12081T		Atlas-SNP	.											.	MUC16	4315	.	0			c.C36243T						PASS	.						136	133	134					19																	9033694		2107	4236	6343	SO:0001819	synonymous_variant	94025	exon9			GGTGATGGTGAAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36243C>T	19.37:g.9033694G>A		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	99	43	0.434343	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			G|0.757;A|0.243	0.243	strong		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9033694	G	A	9033694	2	1	34	1	0	0	0	0	0	0	0	1	9973	1335	47	2		2	MUC16	19	9033694	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	79852	9033694	50095289	130	23201										
COL5A3	50509	hgsc.bcm.edu	37	chr19	10103700	10103700	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agggatccctgatactcaccGgctccccagcctggccagtg	11	16	1	1	rs147814824		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:10103700G>A	ENST00000264828.3	-	20	1878	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	598	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GATACTCACCGGCTCCCCAGC	0.632																																					p.P598L		Atlas-SNP	.											.	COL5A3	243	.	0			c.C1793T						PASS	.	G	LEU/PRO	1,4405		0,1,2202	21	23	22		1793	4.2	1	19	dbSNP_134	22	1,8599		0,1,4299	yes	missense-near-splice	COL5A3	NM_015719.3	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	598/1746	10103700	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	50509	exon20			CTCACCGGCTCCC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1794+1C>T	19.37:g.10103700G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	68	23	0.338235	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160144	0.38119	2.27E-4	1.16E-4	ENSG00000080573	ENST00000264828	D	0.93488	-3.23	4.2	4.2	0.49525	.	0.075522	0.53938	D	0.000050	D	0.92080	0.7490	N	0.21240	0.645	0.51767	D	0.99993	D	0.76494	0.999	P	0.61800	0.894	D	0.91127	0.4934	10	0.38643	T	0.18	.	11.9061	0.52713	0.0:0.0:1.0:0.0	.	598	P25940	CO5A3_HUMAN	L	598	ENSP00000264828:P598L	ENSP00000264828:P598L	P	-	2	0	COL5A3	9964700	0.997000	0.39634	0.999000	0.59377	0.982000	0.71751	2.523000	0.45580	2.176000	0.68965	0.561000	0.74099	CCG	G|1.000;A|0.000	0.000	weak		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Missense_Mutation	A	10103700	G	A	10103700	5	1	34	1	0	0	0	0	0	0	1	0	3698	1130	39	1	3636	1	COL5A3	19	10103700	Splice_Site	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	1070006	10103700	49025283	131	23202										
ZNF440	126070	hgsc.bcm.edu	37	chr19	11941439	11941439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtctgtattttaggaaaaagGtggaaagaccagaacattga	11	4	1	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:11941439G>T	ENST00000304060.5	+	3	302	c.138G>T	c.(136-138)agG>agT	p.R46S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAGGAAAAAGGTGGAAAGACC	0.363																																					p.R46S		Atlas-SNP	.											.	ZNF440	56	.	0			c.G138T						PASS	.						85	85	85					19																	11941439		2203	4300	6503	SO:0001583	missense	126070	exon3			AAAAAGGTGGAAA	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.138G>T	19.37:g.11941439G>T	ENSP00000305373:p.Arg46Ser	Somatic	434	1	0.00230415		WXS	Illumina HiSeq	Phase_I	452	207	0.457965	NM_152357	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.686073	0.00738	.	.	ENSG00000171295	ENST00000304060;ENST00000427505;ENST00000414255	T;T;T	0.00776	5.71;5.71;5.71	1.15	-2.29	0.06805	Krueppel-associated box (3);	.	.	.	.	T	0.00384	0.0012	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	9	0.16896	T	0.51	.	0.5479	0.00657	0.1891:0.1734:0.3025:0.335	.	46	Q8IYI8	ZN440_HUMAN	S	46;49;48	ENSP00000305373:R46S;ENSP00000393489:R49S;ENSP00000411974:R48S	ENSP00000305373:R46S	R	+	3	2	ZNF440	11802439	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.503000	0.00965	-2.524000	0.00495	-2.989000	0.00078	AGG	.	.	none		0.363	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		T	11941439	G	T	11941439	3	4	34	1	0	0	0	0	1	0	0	0	17910	1252	44	4	148	4	ZNF440	19	11941439	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	1837739	11941439	47187544	132	23203										
SLC27A1	376497	hgsc.bcm.edu	37	chr19	17615344	17615344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cagaccggctcttcttcctgGacctgaagcagggccactac	10	15	2	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:17615344G>A	ENST00000252595.7	+	12	1961	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.D443N|SLC27A1_ENST00000442725.1_Missense_Mutation_p.D622N	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	622					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTTCTTCCTGGACCTGAAGCA	0.597																																					p.D622N		Atlas-SNP	.											.	SLC27A1	97	.	0			c.G1864A						PASS	.						84	71	75					19																	17615344		2203	4300	6503	SO:0001583	missense	376497	exon12			TTCCTGGACCTGA	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1864G>A	19.37:g.17615344G>A	ENSP00000252595:p.Asp622Asn	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	15	0.223881	NM_198580	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097728	0.37048	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.48201	0.82;0.82	4.13	4.13	0.48395	.	0.056406	0.64402	D	0.000001	T	0.31575	0.0801	N	0.17594	0.5	0.38800	D	0.955185	B;B	0.28667	0.008;0.219	B;B	0.27380	0.016;0.079	T	0.19712	-1.0297	10	0.30078	T	0.28	-8.2526	13.8877	0.63719	0.0:0.0:1.0:0.0	.	443;622	B7Z662;Q6PCB7	.;S27A1_HUMAN	N	622	ENSP00000413424:D622N;ENSP00000252595:D622N	ENSP00000252595:D622N	D	+	1	0	SLC27A1	17476344	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.864000	0.69575	1.831000	0.53308	0.561000	0.74099	GAC	.	.	none		0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		A	17615344	G	A	17615344	3	1	34	1	0	0	0	0	1	0	0	0	14525	1174	41	2	1910	2	SLC27A1	19	17615344	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	5673905	17615344	41513639	133	23204										
ZNF536	9745	hgsc.bcm.edu	37	chr19	30934652	30934652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	aaccccgaggagaagcccccCgcatccctggaggagaaggc	13	15	0	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:30934652C>T	ENST00000355537.3	+	2	330	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	61					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P61P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGCCCCCCGCATCCCTGG	0.672																																					p.P61P		Atlas-SNP	.											.	ZNF536	424	.	1	Substitution - coding silent(1)	lung(1)	c.C183T						PASS	.						40	44	42					19																	30934652		2203	4300	6503	SO:0001819	synonymous_variant	9745	exon2			GCCCCCCGCATCC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.183C>T	19.37:g.30934652C>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	45	11	0.244444	NM_014717	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																			.	.	none		0.672	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30934652	C	T	30934652	2	4	34	1	0	0	0	0	0	0	0	1	17971	639	23	1		1	ZNF536	19	30934652	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	13319308	30934652	28194331	134	23205										
MEGF8	1954	hgsc.bcm.edu	37	chr19	42859915	42859915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cctctctcttcacagggctgCtcgtgctgcactgggaggcc	12	15	3	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:42859915C>T	ENST00000251268.6	+	24	4150	c.4150C>T	c.(4150-4152)Ctc>Ttc	p.L1384F	MEGF8_ENST00000334370.4_Missense_Mutation_p.L1317F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1384	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACAGGGCTGCTCGTGCTGCA	0.637																																					p.L1384F		Atlas-SNP	.											.	MEGF8	358	.	0			c.C4150T						PASS	.						18	13	15					19																	42859915		2201	4300	6501	SO:0001583	missense	1954	exon24			GGGCTGCTCGTGC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4150C>T	19.37:g.42859915C>T	ENSP00000251268:p.Leu1384Phe	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	66	53	0.80303	NM_001271938	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	13.61	2.288997	0.40494	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.35789	1.29;1.29	4.74	4.74	0.60224	CUB (1);	0.172164	0.38897	N	0.001533	T	0.43523	0.1251	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.63793	0.858;0.918	T	0.43605	-0.9381	10	0.52906	T	0.07	-20.7852	16.6455	0.85176	0.0:1.0:0.0:0.0	.	1384;1317	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	F	1317;1384	ENSP00000334219:L1317F;ENSP00000251268:L1384F	ENSP00000251268:L1384F	L	+	1	0	MEGF8	47551755	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.448000	0.52943	2.481000	0.83766	0.655000	0.94253	CTC	.	.	none		0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42859915	C	T	42859915	3	4	34	1	0	0	0	0	1	0	0	0	9463	797	28	2	4039	2	MEGF8	19	42859915	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	11925263	42859915	16269068	135	23206										
RTN2	6253	hgsc.bcm.edu	37	chr19	45991939	45991939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgaagatggcacccacgaagGtcaagatgtagaagaggagg	15	6	1	5	rs190900651		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:45991939G>T	ENST00000245923.4	-	8	1641	c.1406C>A	c.(1405-1407)aCc>aAc	p.T469N	RTN2_ENST00000590526.1_Missense_Mutation_p.T195N|PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000430715.2_Missense_Mutation_p.T129N|RTN2_ENST00000344680.4_Missense_Mutation_p.T396N	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	469	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACCCACGAAGGTCAAGATGTA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18946	0.0		0.0	False		,,,				2504	0.0				p.T469N		Atlas-SNP	.											.	RTN2	45	.	0			c.C1406A						PASS	.						41	40	41					19																	45991939		2203	4300	6503	SO:0001583	missense	6253	exon8			ACGAAGGTCAAGA	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1406C>A	19.37:g.45991939G>T	ENSP00000245923:p.Thr469Asn	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	46	7	0.152174	NM_005619	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.3	4.722770	0.89298	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.48201	0.82;0.82;0.82	5.58	5.58	0.84498	.	0.106863	0.64402	D	0.000006	T	0.67739	0.2925	M	0.72479	2.2	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.973;0.998	T	0.69161	-0.5218	10	0.59425	D	0.04	-25.1144	15.1396	0.72601	0.0:0.0:1.0:0.0	.	396;469	O75298-2;O75298	.;RTN2_HUMAN	N	396;469;129	ENSP00000345127:T396N;ENSP00000245923:T469N;ENSP00000398178:T129N	ENSP00000245923:T469N	T	-	2	0	RTN2	50683779	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.591000	0.90824	2.649000	0.89929	0.650000	0.86243	ACC	G|1.000;T|0.000	0.000	strong		0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45991939	G	T	45991939	3	4	34	1	0	0	0	0	1	0	0	0	13726	1261	44	4	247	4	RTN2	19	45991939	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	3132024	45991939	13137044	136	23207										
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47575929	47575931	+	In_Frame_Del	DEL	CTT	CTT	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ttcttcagttcctccacctcCttctcatcctcggcacctgc							TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:47575929_47575931delCTT	ENST00000253048.5	-	12	1517_1519	c.1480_1482delAAG	c.(1480-1482)aagdel	p.K494del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	494							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCACCTCCTTCTCATCCTCG	0.631																																					p.494_495del		Atlas-Indel	.											.	ZC3H4	96	.	0			c.1481_1483del						PASS	.																																			SO:0001651	inframe_deletion	23211	exon12			.	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1480_1482delAAG	19.37:g.47575929_47575931delCTT	ENSP00000253048:p.Lys494del	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_015168	Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	CCDS42582.1																																																																																			.	.	none		0.631	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			-	47575931	CTT	-	47575929	7	5	34	1	0	1	0	1	0	0	0	0	17567	680	24	0	2445	0	ZC3H4	19	47575929	In_Frame_Del	DEL	CTT	TCGA-GS-A9TY-01A-11D-A38X-10	1583990	47575929	11553054	137	23208										
LAIR2	3904	hgsc.bcm.edu	37	chr19	55014155	55014155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	atgtctccacacctcactgcTctcctgggcctaggtgagtc	9	15	3	1	rs143266047		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr19:55014155T>C	ENST00000301202.2	+	1	143	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LAIR2_ENST00000351841.2_Silent_p.A7A	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	7						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACCTCACTGCTCTCCTGGGCC	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		16035	0.0		0.0	False		,,,				2504	0.001				p.A7A		Atlas-SNP	.											LAIR2,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	LAIR2	30	1	0			c.T21C						scavenged	.	T	,	0,4406		0,0,2203	86	77	80		21,21	-0.2	0	19	dbSNP_134	80	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous	LAIR2	NM_002288.4,NM_021270.3	,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,	7/153,7/136	55014155	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3904	exon1			CACTGCTCTCCTG	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.21T>C	19.37:g.55014155T>C		Somatic	101	2	0.019802		WXS	Illumina HiSeq	Phase_I	108	8	0.0740741	NM_002288	Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																			T|1.000;C|0.000	0.000	weak		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			C	55014155	T	C	55014155	2	2	34	1	0	0	0	0	0	0	0	1	8603	1538	54	3		3	LAIR2	19	55014155	Silent	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	7438226	55014155	4114828	138	23209										
CDH26	60437	hgsc.bcm.edu	37	chr20	58558068	58558068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tcagtgatgtgaatgatcatGcaccccagtttccagagaag	10	9	2	4			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr20:58558068G>T	ENST00000244047.5	+	5	795	c.484G>T	c.(484-486)Gca>Tca	p.A162S	CDH26_ENST00000348616.4_Missense_Mutation_p.A162S			Q8IXH8	CAD26_HUMAN	cadherin 26	162	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAATGATCATGCACCCCAGTT	0.463																																					p.A162S		Atlas-SNP	.											.	CDH26	229	.	0			c.G484T						PASS	.						156	161	160					20																	58558068		2203	4300	6503	SO:0001583	missense	60437	exon5			GATCATGCACCCC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.484G>T	20.37:g.58558068G>T	ENSP00000244047:p.Ala162Ser	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	104	23	0.221154	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.	.	.	.	.	.	.	.	.	.	G	17.28	3.350695	0.61183	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61742	0.08;0.08	4.91	3.97	0.46021	.	0.356242	0.29948	N	0.010794	T	0.71771	0.3379	M	0.73962	2.25	0.40699	D	0.982466	D	0.69078	0.997	D	0.73708	0.981	T	0.71623	-0.4537	10	0.38643	T	0.18	.	10.4423	0.44472	0.0927:0.0:0.9073:0.0	.	162	Q8IXH8-4	.	S	162	ENSP00000244047:A162S;ENSP00000339390:A162S	ENSP00000244047:A162S	A	+	1	0	CDH26	57991463	0.502000	0.26107	0.006000	0.13384	0.964000	0.63967	1.962000	0.40442	1.057000	0.40506	0.591000	0.81541	GCA	.	.	none		0.463	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58558068	G	T	58558068	3	4	34	1	0	0	0	0	1	0	0	0	3110	1319	46	4	502	4	CDH26	20	58558068	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		58558068	4467452	139	23210										
DIDO1	11083	hgsc.bcm.edu	37	chr20	61526223	61526223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tggcctcctgcctgggggccGtcttcttgctttcattgtgc	12	13	3	0	rs139525718		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr20:61526223G>T	ENST00000266070.4	-	10	2700	c.2375C>A	c.(2374-2376)aCg>aAg	p.T792K	DIDO1_ENST00000395340.1_Missense_Mutation_p.T792K|DIDO1_ENST00000395335.2_Missense_Mutation_p.T792K|DIDO1_ENST00000395343.1_Missense_Mutation_p.T792K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	792					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTGGGGGCCGTCTTCTTGCT	0.498																																					p.T792K	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.C2375A						PASS	.						75	83	80					20																	61526223		2203	4300	6503	SO:0001583	missense	11083	exon10			GGGGCCGTCTTCT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2375C>A	20.37:g.61526223G>T	ENSP00000266070:p.Thr792Lys	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	83	47	0.566265	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594885	0.46318	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.14640	2.91;2.91;2.49;2.49	5.5	2.33	0.28932	.	0.567818	0.14596	N	0.309931	T	0.08714	0.0216	L	0.44542	1.39	0.09310	N	0.999998	B;P	0.34724	0.302;0.465	B;B	0.23150	0.04;0.044	T	0.28964	-1.0027	10	0.34782	T	0.22	-2.3923	4.5074	0.11894	0.3162:0.0:0.5279:0.1559	.	792;792	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	792	ENSP00000266070:T792K;ENSP00000378752:T792K;ENSP00000378749:T792K;ENSP00000378744:T792K	ENSP00000266070:T792K	T	-	2	0	DIDO1	60996668	0.001000	0.12720	0.000000	0.03702	0.582000	0.36321	1.120000	0.31271	0.212000	0.20703	0.462000	0.41574	ACG	G|0.999;A|0.001	.	alt		0.498	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61526223	G	T	61526223	3	4	34	1	0	0	0	0	1	0	0	0	4522	1145	40	4	4404	4	DIDO1	20	61526223	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	2968155	61526223	1499297	140	23211										
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gggggacccggcgggggacgGcgtagaagcgggggtcccgg					rs557556798|rs548102329|rs13049745|rs369616665|rs62213790|rs13048804	byFrequency	TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggcgtagaagcgggggtcccggcgggggacagc>ggc	p.VEAGVPAGDS260del	CLIC6_ENST00000349499.2_In_Frame_Del_p.VEAGVPAGDS260del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	260	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761														964	0.192492	0.1551	0.1599	5008	,	,		8557	0.1835		0.2127	False		,,,				2504	0.2546				p.259_268del		Atlas-Indel	.											.	CLIC6	49	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.775_804del						PASS	.			159,961		56,47,457						2.8	0		dbSNP_130	2	659,2423		241,177,1123	no	coding	CLIC6	NM_053277.1		297,224,1580	A1A1,A1R,RR		21.3822,14.1964,19.4669				818,3384				SO:0001651	inframe_deletion	54102	exon1			.	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	21.37:g.36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENSP00000353959:p.Val260_Ser269del	Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	25	16	0.64	NM_053277	A8K0U8|Q8IX31	In_Frame_Del	DEL	ENST00000360731.3	37																																																																																				.	.	none		0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			-	36042492	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	36042463	7	5	34	1	0	1	0	1	0	0	0	0	3530	1203	42	0	778	0	CLIC6	21	36042463	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	TCGA-GS-A9TY-01A-11D-A38X-10		36042463	12087432	141	23212										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43161043	43161043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gtggcggcggggccatggccGccctggaacttgaggctctg	18	12	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr21:43161043G>A	ENST00000352483.2	-	9	2518	c.2454C>T	c.(2452-2454)ggC>ggT	p.G818G	RIPK4_ENST00000542057.1_Silent_p.G707G|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.G707G|RIPK4_ENST00000332512.3_Silent_p.G770G			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	818					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCCATGGCCGCCCTGGAACT	0.697																																					p.G770G		Atlas-SNP	.											.	RIPK4	151	.	0			c.C2310T						PASS	.						31	31	31					21																	43161043		2200	4294	6494	SO:0001819	synonymous_variant	54101	exon8			ATGGCCGCCCTGG	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2454C>T	21.37:g.43161043G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	105	57	0.542857	NM_020639	Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																				.	.	none		0.697	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161043	G	A	43161043	2	1	34	1	0	0	0	0	0	0	0	1	13383	1074	38	1		1	RIPK4	21	43161043	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	7118580	43161043	4968852	142	23213										
KRTAP10-4	386672	hgsc.bcm.edu	37	chr21	45994237	45994237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cccctgccaatcaggctgcaTcagctcctgcacgccctcgt	8	19	2	0	rs202043408		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr21:45994237T>C	ENST00000400374.3	+	1	632	c.602T>C	c.(601-603)aTc>aCc	p.I201T	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	201	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I201T(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCAGGCTGCATCAGCTCCTGC	0.657																																					p.I201T		Atlas-SNP	.											KRTAP10-4,NS,malignant_melanoma,0,1	KRTAP10-4	44	1	1	Substitution - Missense(1)	NS(1)	c.T602C						scavenged	.						29	33	32					21																	45994237		2188	4271	6459	SO:0001583	missense	386672	exon1			GCTGCATCAGCTC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.602T>C	21.37:g.45994237T>C	ENSP00000383225:p.Ile201Thr	Somatic	182	9	0.0494506		WXS	Illumina HiSeq	Phase_I	269	29	0.107807	NM_198687	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.752054	0.00085	.	.	ENSG00000215454	ENST00000400374	T	0.00700	5.82	1.96	1.04	0.20106	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.20074	N	0.999935	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	9	0.15066	T	0.55	.	6.5648	0.22505	0.0:0.8319:0.0:0.1681	.	201	P60372	KR104_HUMAN	T	201	ENSP00000383225:I201T	ENSP00000383225:I201T	I	+	2	0	KRTAP10-4	44818665	0.000000	0.05858	0.324000	0.25361	0.224000	0.24922	0.098000	0.15189	0.147000	0.19030	-0.584000	0.04131	ATC	.	.	weak		0.657	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		C	45994237	T	C	45994237	3	2	34	1	0	0	0	0	1	0	0	0	8511	1435	50	2	604	2	KRTAP10-4	21	45994237	Missense_Mutation	SNP	T	TCGA-GS-A9TY-01A-11D-A38X-10	2833194	45994237	2135658	143	23214										
MYO18B	84700	hgsc.bcm.edu	37	chr22	26291160	26291160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	cgcttcgactgtgctcagatGgagaacgagttcctcagaaa	11	10	2	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr22:26291160G>A	ENST00000407587.2	+	28	4753	c.4584G>A	c.(4582-4584)atG>atA	p.M1528I	CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.M1527I|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.M1527I|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1527	Tail.					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						GTGCTCAGATGGAGAACGAGT	0.542																																					p.M1527I		Atlas-SNP	.											.	MYO18B	322	.	0			c.G4581A						PASS	.						40	44	43					22																	26291160		2180	4283	6463	SO:0001583	missense	84700	exon28			TCAGATGGAGAAC	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.4584G>A	22.37:g.26291160G>A	ENSP00000386096:p.Met1528Ile	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	15.44	2.833067	0.50951	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86297	-2.1;-2.1;-1.12	5.26	1.83	0.25207	.	0.303395	0.30704	N	0.009056	T	0.79868	0.4520	L	0.51422	1.61	0.30516	N	0.76893	B;B;P;P	0.35774	0.274;0.384;0.458;0.519	B;B;B;B	0.38264	0.112;0.138;0.194;0.269	T	0.73382	-0.4000	10	0.36615	T	0.2	.	2.7126	0.05179	0.173:0.1451:0.5328:0.1491	.	1040;1527;1528;1527	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1527;1527;1528	ENSP00000441229:M1527I;ENSP00000334563:M1527I;ENSP00000386096:M1528I	ENSP00000334563:M1527I	M	+	3	0	MYO18B	24621160	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	0.315000	0.19451	1.221000	0.43506	0.563000	0.77884	ATG	.	.	none		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26291160	G	A	26291160	3	1	34	1	0	0	0	0	1	0	0	0	10066	1348	47	2	4687	2	MYO18B	22	26291160	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		26291160	25013406	144	23215										
NEFH	4744	hgsc.bcm.edu	37	chr22	29884844	29884844	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gatccatcctgcagaaaactCctggaaggtgaagagtgtcg	12	9	0	3			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chr22:29884844C>T	ENST00000310624.6	+	4	1248	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	405	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCAGAAAACTCCTGGAAGGTG	0.463																																					p.L405L		Atlas-SNP	.											.	NEFH	178	.	0			c.C1215T						PASS	.						71	74	73					22																	29884844		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			AAAACTCCTGGAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1215C>T	22.37:g.29884844C>T		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	57	22	0.385965	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	none		0.463	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29884844	C	T	29884844	2	4	34	1	0	0	0	0	0	0	0	1	10314	842	30	2		2	NEFH	22	29884844	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	3593684	29884844	21419722	145	23216										
NHS	4810	hgsc.bcm.edu	37	chrX	17750129	17750129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ccaacagccagaggtctcctGgtctcatataccgaaatgcc	8	14	2	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:17750129G>A	ENST00000380060.3	+	8	4776	c.4438G>A	c.(4438-4440)Ggt>Agt	p.G1480S	NHS_ENST00000398097.3_Missense_Mutation_p.G1324S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1501	Poly-Ser.				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGGTCTCCTGGTCTCATATA	0.493																																					p.G1480S		Atlas-SNP	.											.	NHS	302	.	0			c.G4438A						PASS	.						155	136	142					X																	17750129		2203	4300	6503	SO:0001583	missense	4810	exon8			TCTCCTGGTCTCA		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4438G>A	X.37:g.17750129G>A	ENSP00000369400:p.Gly1480Ser	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	127	35	0.275591	NM_198270	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793800	0.90453	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.61392	0.11;0.13	5.79	5.79	0.91817	.	0.102979	0.64402	D	0.000003	T	0.73651	0.3614	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D	0.69078	0.976;0.976;0.976;0.997	P;P;P;D	0.74348	0.698;0.698;0.698;0.983	T	0.68191	-0.5474	10	0.19147	T	0.46	-19.5354	18.9979	0.92821	0.0:0.0:1.0:0.0	.	1501;1322;1324;1480	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1480;1324;1322	ENSP00000369400:G1480S;ENSP00000381170:G1324S	ENSP00000369397:G1322S	G	+	1	0	NHS	17660050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.404000	0.79996	2.435000	0.82474	0.600000	0.82982	GGT	.	.	none		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		A	17750129	G	A	17750129	3	1	34	1	0	0	0	0	1	0	0	0	10411	1348	47	2	4573	2	NHS	23	17750129	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10		17750129	137520431	146	23217										
CXorf22	170063	hgsc.bcm.edu	37	chrX	35970007	35970007	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acatagatactactatcattAtctcctgtcttcctaatgaa	3	10	3	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:35970007A>T	ENST00000297866.5	+	6	1039	c.973A>T	c.(973-975)Atc>Ttc	p.I325F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	325										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTATCATTATCTCCTGTCT	0.284																																					p.I325F		Atlas-SNP	.											.	CXorf22	272	.	0			c.A973T						PASS	.						56	54	55					X																	35970007		2194	4246	6440	SO:0001583	missense	170063	exon6			ATCATTATCTCCT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.973A>T	X.37:g.35970007A>T	ENSP00000297866:p.Ile325Phe	Somatic	876	0	0		WXS	Illumina HiSeq	Phase_I	782	311	0.397698	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066679	0.55539	.	.	ENSG00000165164	ENST00000297866	T	0.60040	0.22	5.76	4.57	0.56435	.	0.189713	0.46758	N	0.000266	T	0.67050	0.2852	M	0.74258	2.255	0.32724	N	0.509944	D	0.64830	0.994	D	0.65010	0.931	T	0.68853	-0.5299	10	0.02654	T	1	-22.2371	10.4909	0.44750	0.8525:0.0:0.0:0.1475	.	325	Q6ZTR5	CX022_HUMAN	F	325	ENSP00000297866:I325F	ENSP00000297866:I325F	I	+	1	0	CXorf22	35879928	1.000000	0.71417	0.915000	0.36163	0.503000	0.33858	3.555000	0.53727	0.766000	0.33244	0.417000	0.27973	ATC	.	.	none		0.284	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35970007	A	T	35970007	3	4	34	1	0	0	0	0	1	0	0	0	4102	449	16	5	995	5	CXorf22	23	35970007	Missense_Mutation	SNP	A	TCGA-GS-A9TY-01A-11D-A38X-10	18219878	35970007	119300553	147	23218										
AKAP4	8852	hgsc.bcm.edu	37	chrX	49961619	49961619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	acttcccaggtttaagttgcCttctgagctggaactagcag	10	10	1	1			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:49961619C>T	ENST00000376056.2	-	4	322	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	AKAP4_ENST00000376064.3_Missense_Mutation_p.G58S|AKAP4_ENST00000358526.2_Missense_Mutation_p.G67S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.G58S					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTAAGTTGCCTTCTGAGCTG	0.433																																					p.G67S		Atlas-SNP	.											.	AKAP4	131	.	0			c.G199A						PASS	.						174	144	154					X																	49961619		2203	4300	6503	SO:0001583	missense	8852	exon4			AGTTGCCTTCTGA	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.172G>A	X.37:g.49961619C>T	ENSP00000365224:p.Gly58Ser	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	283	108	0.381625	NM_003886		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200104	0.06219	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T	0.32272	2.7;1.46;2.7;2.7;1.46	4.35	2.5	0.30297	.	0.504572	0.16825	N	0.198005	T	0.25082	0.0609	L	0.57536	1.79	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.15052	0.006;0.012	T	0.23797	-1.0178	9	.	.	.	-0.9557	4.6452	0.12568	0.2165:0.6629:0.0:0.1206	.	67;58	Q5JQC9;A6ND82	AKAP4_HUMAN;.	S	58;58;67;58;58;58	ENSP00000365224:G58S;ENSP00000365226:G58S;ENSP00000351327:G67S;ENSP00000365232:G58S;ENSP00000412279:G58S	.	G	-	1	0	AKAP4	49848359	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.471000	0.22100	0.234000	0.21139	0.513000	0.50165	GGC	.	.	none		0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		T	49961619	C	T	49961619	3	4	34	1	0	0	0	0	1	0	0	0	453	681	24	2	2377	2	AKAP4	23	49961619	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	13991612	49961619	105308941	148	23219										
SPIN3	169981	hgsc.bcm.edu	37	chrX	57021350	57021350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gcccgtcctggaccgctgccCtgcagctgcctttccaaacg	10	18	0	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:57021350C>A	ENST00000374919.3	-	2	353	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	11					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GACCGCTGCCCTGCAGCTGCC	0.557																																					p.G11W		Atlas-SNP	.											.	SPIN3	33	.	0			c.G31T						PASS	.						37	37	37					X																	57021350		2059	4167	6226	SO:0001583	missense	169981	exon2			GCTGCCCTGCAGC	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.31G>T	X.37:g.57021350C>A	ENSP00000364054:p.Gly11Trp	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	127	27	0.212598	NM_001010862	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315986	0.60524	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.46063	0.88	2.32	2.32	0.28847	.	.	.	.	.	T	0.44329	0.1288	L	0.46157	1.445	0.24883	N	0.992217	D	0.61697	0.99	P	0.50659	0.647	T	0.29549	-1.0008	9	0.87932	D	0	-1.0721	9.9797	0.41806	0.0:1.0:0.0:0.0	.	11	Q5JUX0	SPIN3_HUMAN	W	11	ENSP00000364054:G11W	ENSP00000364050:G11W	G	-	1	0	SPIN3	57038075	0.171000	0.23029	0.509000	0.27700	0.071000	0.16799	1.058000	0.30504	1.449000	0.47699	0.513000	0.50165	GGG	.	.	none		0.557	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		A	57021350	C	A	57021350	3	1	34	1	0	0	0	0	1	0	0	0	15054	681	24	4	749	4	SPIN3	23	57021350	Missense_Mutation	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	7059731	57021350	98249210	149	23220										
AR	367	hgsc.bcm.edu	37	chrX	66765158	66765159	+	In_Frame_Ins	INS	-	-	GCAGCA													0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	ggcgccagtttgctgctgctINSgcagcagcagcagcagcagc					rs78686797|rs3032358|rs4045402		TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:66765158_66765159insGCAGCA	ENST00000374690.3	+	1	694_695	c.170_171insGCAGCA	c.(169-174)ctgcag>ctGCAGCAgcag	p.80_81insQQ	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Ins_p.80_81insQQ|AR_ENST00000396044.3_In_Frame_Ins_p.80_81insQQ	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcagc	0.668									Androgen Insensitivity Syndrome																												p.L57delinsLQQ		Atlas-Indel	.											.	AR	249	.	3	Substitution - Missense(3)	lung(1)|endometrium(1)|central_nervous_system(1)	c.170_171insGCAGCA						PASS	.																																			SO:0001652	inframe_insertion	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	.	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.231_236dupGCAGCA	X.37:g.66765159_66765164dupGCAGCA	ENSP00000363822:p.Gln79_Gln80dup	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	114	16	0.140351	NM_000044	A2RUN2|B1AKD7|Q9UD95	In_Frame_Ins	INS	ENST00000374690.3	37	CCDS14387.1																																																																																			.	.	alt		0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		GCAGCA	66765159	-	GCAGCA	66765158	7	5	34	1	0	1	1	0	0	0	0	0	836	1580	55	0	172	0	AR	23	66765158	In_Frame_Ins	INS	-	TCGA-GS-A9TY-01A-11D-A38X-10	9743808	66765158	88505402	150	23221										
DGAT2L6	347516	hgsc.bcm.edu	37	chrX	69424307	69424307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tttctgtaccttccatggccGgggcttcactcgcggatcct	10	14	2	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:69424307G>A	ENST00000333026.3	+	6	900	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	267					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTCCATGGCCGGGGCTTCACT	0.502																																					p.R267Q		Atlas-SNP	.											.	DGAT2L6	40	.	0			c.G800A						PASS	.						74	68	70					X																	69424307		2203	4300	6503	SO:0001583	missense	347516	exon6			ATGGCCGGGGCTT	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.800G>A	X.37:g.69424307G>A	ENSP00000328036:p.Arg267Gln	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	208	45	0.216346	NM_198512	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402595	0.25291	.	.	ENSG00000184210	ENST00000333026	T	0.24723	1.84	4.98	1.19	0.21007	.	0.300803	0.27567	N	0.018792	T	0.36220	0.0959	M	0.88241	2.94	0.26196	N	0.979515	P	0.47191	0.891	P	0.45343	0.477	T	0.29761	-1.0001	10	0.49607	T	0.09	-17.6492	8.4724	0.32993	0.3533:0.0:0.6467:0.0	.	267	Q6ZPD8	DG2L6_HUMAN	Q	267	ENSP00000328036:R267Q	ENSP00000328036:R267Q	R	+	2	0	DGAT2L6	69341032	0.982000	0.34865	0.170000	0.22879	0.003000	0.03518	3.486000	0.53215	0.167000	0.19631	-0.208000	0.12717	CGG	.	.	none		0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69424307	G	A	69424307	3	1	34	1	0	0	0	0	1	0	0	0	4459	1116	39	1	822	1	DGAT2L6	23	69424307	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	2659149	69424307	85846253	151	23222										
MAGT1	84061	hgsc.bcm.edu	37	chrX	77112935	77112935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tgtaactcatatgtatcaccCcgtttgggtttcccttttgc	7	11	2	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:77112935C>T	ENST00000358075.6	-	4	632	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	150					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)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ATGTATCACCCCGTTTGGGTT	0.423																																					p.R182R		Atlas-SNP	.											.	MAGT1	51	.	0			c.G546A						PASS	.						148	137	141					X																	77112935		2203	4296	6499	SO:0001819	synonymous_variant	84061	exon4			ATCACCCCGTTTG		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.546G>A	X.37:g.77112935C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	146	16	0.109589	NM_032121	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000358075.6	37	CCDS14436.2																																																																																			.	.	none		0.423	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		T	77112935	C	T	77112935	2	4	34	1	0	0	0	0	0	0	0	1	9196	610	22	2		2	MAGT1	23	77112935	Silent	SNP	C	TCGA-GS-A9TY-01A-11D-A38X-10	7688628	77112935	78157625	152	23223										
DACH2	117154	hgsc.bcm.edu	37	chrX	85950135	85950135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	tggccagccaggcattggggGtgctccaaccctcaatccac	11	15	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:85950135G>T	ENST00000373125.4	+	5	884	c.884G>T	c.(883-885)gGt>gTt	p.G295V	DACH2_ENST00000510272.1_Missense_Mutation_p.G76V|DACH2_ENST00000508860.1_Missense_Mutation_p.G128V|DACH2_ENST00000373131.1_Missense_Mutation_p.G282V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	295					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCATTGGGGGTGCTCCAACC	0.498																																					p.G295V		Atlas-SNP	.											.	DACH2	263	.	0			c.G884T						PASS	.						64	47	53					X																	85950135		2203	4300	6503	SO:0001583	missense	117154	exon5			TTGGGGGTGCTCC	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.884G>T	X.37:g.85950135G>T	ENSP00000362217:p.Gly295Val	Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	678	152	0.224189	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	g	0.282	-0.985447	0.02180	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.81996	-1.56;-1.56	4.99	3.16	0.36331	.	0.450888	0.22302	N	0.061844	T	0.64560	0.2609	N	0.11427	0.14	0.44780	D	0.997788	B;B;B	0.30236	0.085;0.274;0.091	B;B;B	0.27887	0.022;0.084;0.007	T	0.53739	-0.8396	10	0.27082	T	0.32	.	8.6822	0.34216	0.0813:0.0:0.767:0.1516	.	161;282;295	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	295;282;295;128;76;128	ENSP00000362223:G282V;ENSP00000362217:G295V	ENSP00000345134:G295V	G	+	2	0	DACH2	85836791	1.000000	0.71417	0.012000	0.15200	0.005000	0.04900	3.040000	0.49799	0.320000	0.23234	0.509000	0.49947	GGT	.	.	none		0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	85950135	G	T	85950135	3	4	34	1	0	0	0	0	1	0	0	0	4221	1261	44	4	902	4	DACH2	23	85950135	Missense_Mutation	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	8837200	85950135	69320425	153	23224										
GLUD2	2747	hgsc.bcm.edu	37	chrX	120182459	120182459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gataaaacatttgttgttcaGggatttggtaatgtgggcct	12	4	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:120182459G>A	ENST00000328078.1	+	1	998	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	307					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TTGTTGTTCAGGGATTTGGTA	0.393																																					p.Q307Q		Atlas-SNP	.											.	GLUD2	89	.	0			c.G921A						PASS	.						226	206	213					X																	120182459		2203	4300	6503	SO:0001819	synonymous_variant	2747	exon1			TGTTCAGGGATTT	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.921G>A	X.37:g.120182459G>A		Somatic	472	0	0		WXS	Illumina HiSeq	Phase_I	409	235	0.574572	NM_012084	B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	CCDS14603.1																																																																																			.	.	none		0.393	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		A	120182459	G	A	120182459	2	1	34	1	0	0	0	0	0	0	0	1	6477	991	35	2		2	GLUD2	23	120182459	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	34232324	120182459	35088101	154	23225										
TFDP3	51270	hgsc.bcm.edu	37	chrX	132351082	132351082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	agaggacgtcagtcatcctcGtcattctcactgaggtcgtc	10	12	4	2			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:132351082G>A	ENST00000310125.4	-	1	1294	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	402	Asp/Glu-rich (acidic; NCB domain).				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AGTCATCCTCGTCATTCTCAC	0.468																																					p.D402D		Atlas-SNP	.											.	TFDP3	92	.	0			c.C1206T						PASS	.						86	85	85					X																	132351082		2198	4290	6488	SO:0001819	synonymous_variant	51270	exon1			ATCCTCGTCATTC	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1206C>T	X.37:g.132351082G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	52	41	0.788462	NM_016521	Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	CCDS14636.2																																																																																			.	.	none		0.468	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		A	132351082	G	A	132351082	2	1	34	1	0	0	0	0	0	0	0	1	15796	1136	40	1		1	TFDP3	23	132351082	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	12168623	132351082	22919478	155	23226										
MAGEC2	51438	hgsc.bcm.edu	37	chrX	141291747	141291747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	5	1	0.435579404175463	1.37801484230056	0.299174274973147	1	1	0	gagtcgttgtcaacgttgcgGaatggaacgcctggaacggg	16	8	1	0			TCGA-GS-A9TY-01A-11D-A38X-10	TCGA-GS-A9TY-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efd48c02-60c4-4db1-9c40-8ffcac8b4991	9dba8651-a374-4e47-862f-f91f46c7bd4d	g.chrX:141291747G>A	ENST00000247452.3	-	3	374	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	9					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CAACGTTGCGGAATGGAACGC	0.537										HNSCC(46;0.14)																											p.F9F		Atlas-SNP	.											.	MAGEC2	102	.	0			c.C27T						PASS	.						117	106	110					X																	141291747		2203	4300	6503	SO:0001819	synonymous_variant	51438	exon3			GTTGCGGAATGGA	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.27C>T	X.37:g.141291747G>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	54	43	0.796296	NM_016249	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	CCDS14678.1																																																																																			.	.	none		0.537	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		A	141291747	G	A	141291747	2	1	34	1	0	0	0	0	0	0	0	1	9181	1165	41	2		2	MAGEC2	23	141291747	Silent	SNP	G	TCGA-GS-A9TY-01A-11D-A38X-10	8940665	141291747	13978813	156	23227										
DVL1	1855	hgsc.bcm.edu	37	chr1	1273785	1273785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgctccttgaagccctccacGtgtgtgtacagccagtccac	9	16	0	1	rs151161721		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:1273785G>A	ENST00000378888.5	-	13	1655	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	DVL1_ENST00000378891.5_Silent_p.H432H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	457	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCCTCCACGTGTGTGTACA	0.682																																					p.H432H		Atlas-SNP	.											.	DVL1	36	.	0			c.C1296T						PASS	.	G		0,4404		0,0,2202	35	34	34		1296	-1.9	0.9	1	dbSNP_134	34	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	DVL1	NM_004421.2		0,2,6494	AA,AG,GG		0.0233,0.0,0.0154		432/671	1273785	2,12990	2202	4294	6496	SO:0001819	synonymous_variant	1855	exon13			CTCCACGTGTGTG	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1371C>T	1.37:g.1273785G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	21	0.328125	NM_004421	Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37																																																																																				G|1.000;A|0.000	0.000	weak		0.682	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		A	1273785	G	A	1273785	2	1	35	1	0	0	0	0	0	0	0	1	4835	1136	40	1		1	DVL1	1	1273785	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		1273785	247976836	1	23228										
MIB2	142678	hgsc.bcm.edu	37	chr1	1565043	1565043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgcgcgcaggatgaagaagtGcatcaggtgccaggtggtcg	17	9	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:1565043G>A	ENST00000357210.4	+	19	2978	c.2762G>A	c.(2761-2763)tGc>tAc	p.C921Y	MMP23B_ENST00000378675.3_5'Flank|MIB2_ENST00000360522.4_Missense_Mutation_p.C886Y|MIB2_ENST00000355826.5_Missense_Mutation_p.C964Y|MIB2_ENST00000505820.2_Missense_Mutation_p.C978Y|MIB2_ENST00000378712.1_Silent_p.V737V|MIB2_ENST00000378708.1_Missense_Mutation_p.C827Y|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000518681.1_Missense_Mutation_p.C913Y|MIB2_ENST00000520777.1_Missense_Mutation_p.C974Y|MIB2_ENST00000378710.3_Missense_Mutation_p.C885Y|MIB2_ENST00000504599.1_Missense_Mutation_p.C877Y	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	921					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGAAGAAGTGCATCAGGTGC	0.701																																					p.C978Y		Atlas-SNP	.											MIB2,NS,carcinoma,-1,1	MIB2	62	1	0			c.G2933A						PASS	.						34	41	39					1																	1565043		2090	4210	6300	SO:0001583	missense	142678	exon19			AGAAGTGCATCAG	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2762G>A	1.37:g.1565043G>A	ENSP00000349741:p.Cys921Tyr	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	139	16	0.115108	NM_080875	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37		.	.	.	.	.	.	.	.	.	.	g	20.5	3.999930	0.74818	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000504599;ENST00000378708	D;D;D;D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31	3.25	3.25	0.37280	Zinc finger, RING-type (2);	0.051571	0.85682	U	0.000000	D	0.99704	0.9887	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.976;0.999;1.0;0.999;0.999;1.0	D	0.97157	0.9835	10	0.87932	D	0	-6.0944	13.9945	0.64388	0.0:0.0:1.0:0.0	.	886;827;913;974;907;921	Q96AX9-5;F2Z2L2;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;MIB2_HUMAN	Y	974;921;886;885;964;913;978;877;827	ENSP00000428660:C974Y;ENSP00000349741:C921Y;ENSP00000353713:C886Y;ENSP00000367982:C885Y;ENSP00000348081:C964Y;ENSP00000428264:C913Y;ENSP00000426103:C978Y;ENSP00000426128:C877Y;ENSP00000367980:C827Y	ENSP00000348081:C964Y	C	+	2	0	MIB2	1554906	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.562000	0.90719	1.802000	0.52723	0.450000	0.29827	TGC	.	.	none		0.701	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		A	1565043	G	A	1565043	3	1	35	1	0	0	0	0	1	0	0	0	9567	1319	46	2	3007	2	MIB2	1	1565043	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	291258	1565043	247685578	2	23229										
PRDM16	63976	hgsc.bcm.edu	37	chr1	3321441	3321441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaacgcttcgaatgtgaaaaCtgcgtgaaggtaacctgcgg	12	8	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:3321441C>G	ENST00000270722.5	+	7	1072	c.1023C>G	c.(1021-1023)aaC>aaG	p.N341K	PRDM16_ENST00000378391.2_Missense_Mutation_p.N341K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.N342K|PRDM16_ENST00000511072.1_Missense_Mutation_p.N342K|PRDM16_ENST00000442529.2_Missense_Mutation_p.N341K|PRDM16_ENST00000441472.2_Missense_Mutation_p.N341K|PRDM16_ENST00000514189.1_Missense_Mutation_p.N342K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	341					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AATGTGAAAACTGCGTGAAGG	0.642			T	EVI1	"MDS, AML"																																p.N341K		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.C1023G						PASS	.						61	66	64					1																	3321441		2145	4267	6412	SO:0001583	missense	63976	exon7			TGAAAACTGCGTG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1023C>G	1.37:g.3321441C>G	ENSP00000270722:p.Asn341Lys	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	44	11	0.25	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759552	0.69763	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21	4.63	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.988944	0.08186	U	0.984619	T	0.10551	0.0258	N	0.04655	-0.195	0.44194	D	0.997016	D;P;D;D	0.71674	0.998;0.952;0.996;0.988	D;P;D;P	0.69654	0.965;0.636;0.917;0.901	T	0.38993	-0.9635	10	0.52906	T	0.07	.	7.3185	0.26513	0.0:0.7186:0.0:0.2814	.	341;341;341;341	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	342;342;341;341;341;342;341;157;157;150	ENSP00000426975:N342K;ENSP00000367651:N342K;ENSP00000407968:N341K;ENSP00000405253:N341K;ENSP00000367643:N341K;ENSP00000421400:N342K;ENSP00000270722:N341K;ENSP00000422504:N157K;ENSP00000425796:N150K	ENSP00000270722:N341K	N	+	3	2	PRDM16	3311301	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.212000	0.32394	0.928000	0.37168	0.467000	0.42956	AAC	.	.	none		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		G	3321441	C	G	3321441	3	3	35	1	0	0	0	0	1	0	0	0	12457	564	20	4	1049	4	PRDM16	1	3321441	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1756398	3321441	245929180	3	23230										
PRDM2	7799	hgsc.bcm.edu	37	chr1	14105995	14105995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctctgaaaacttaaattacTatattgatggtaaaattcaa	4	5	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:14105995T>C	ENST00000235372.7	+	8	2561	c.1705T>C	c.(1705-1707)Tat>Cat	p.Y569H	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Y368H|PRDM2_ENST00000413440.1_Missense_Mutation_p.Y368H|PRDM2_ENST00000311066.5_Missense_Mutation_p.Y569H|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTAAATTACTATATTGATGG	0.383																																					p.Y569H		Atlas-SNP	.											.	PRDM2	147	.	0			c.T1705C						PASS	.						51	55	53					1																	14105995		2203	4300	6503	SO:0001583	missense	7799	exon8			AATTACTATATTG	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1705T>C	1.37:g.14105995T>C	ENSP00000235372:p.Tyr569His	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	74	12	0.162162	NM_015866	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963193	0.53507	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.03181	4.16;4.05;4.02;4.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.74881	2.28	0.58432	D	0.999993	D;D;D;D	0.89917	0.968;1.0;0.985;0.981	P;D;P;D	0.87578	0.885;0.998;0.888;0.946	T	0.00116	-1.2037	10	0.87932	D	0	.	14.651	0.68797	0.0:0.0:0.0:1.0	.	569;427;569;569	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	H	569;569;569;368;368	ENSP00000235372:Y569H;ENSP00000312352:Y569H;ENSP00000411103:Y368H;ENSP00000341621:Y368H	ENSP00000235372:Y569H	Y	+	1	0	PRDM2	13978582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.129000	0.65627	0.533000	0.62120	TAT	.	.	none		0.383	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		C	14105995	T	C	14105995	3	2	35	1	0	0	0	0	1	0	0	0	12458	1522	53	3	1731	3	PRDM2	1	14105995	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	10784554	14105995	235144626	4	23231										
HSPG2	3339	hgsc.bcm.edu	37	chr1	22183832	22183832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctccggggcgcacgctctgGctccgctgctcctccacagt	12	18	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:22183832G>A	ENST00000374695.3	-	43	5419	c.5340C>T	c.(5338-5340)agC>agT	p.S1780S	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1780	Ig-like C2-type 3.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCACGCTCTGGCTCCGCTGCT	0.647																																					p.S1780S		Atlas-SNP	.											.	HSPG2	311	.	0			c.C5340T						PASS	.						89	89	89					1																	22183832		2203	4300	6503	SO:0001819	synonymous_variant	3339	exon43			GCTCTGGCTCCGC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5340C>T	1.37:g.22183832G>A		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	60	18	0.3	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			.	.	none		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22183832	G	A	22183832	2	1	35	1	0	0	0	0	0	0	0	1	7430	1194	42	2		2	HSPG2	1	22183832	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8077837	22183832	227066789	5	23232										
ZBTB8OS	5928	hgsc.bcm.edu	37	chr1	33116071	33116071	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	actggcggatacttggccttGatcgccttctgttcttcagt	10	11	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:33116071G>A	ENST00000373493.5	+	0	0				RBBP4_ENST00000414241.3_5'Flank|ZBTB8OS_ENST00000341885.5_Silent_p.I32I|RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000492007.1_5'UTR|RBBP4_ENST00000373485.1_5'Flank|ZBTB8OS_ENST00000373501.2_Silent_p.I20I|RBBP4_ENST00000458695.2_5'Flank|ZBTB8OS_ENST00000468695.1_Silent_p.I32I	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTTGGCCTTGATCGCCTTCT	0.488																																					p.I32I		Atlas-SNP	.											.	ZBTB8OS	9	.	0			c.C96T						PASS	.						225	170	189					1																	33116071		2203	4300	6503	SO:0001631	upstream_gene_variant	339487	exon1			GGCCTTGATCGCC	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116071G>A	Exception_encountered	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	123	46	0.373984	NM_178547	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819270	0.32145	.	.	ENSG00000176261	ENST00000436661	.	.	.	5.66	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2676	10.2329	0.43266	0.0761:0.1463:0.7776:0.0	.	.	.	.	X	31	.	.	Q	-	1	0	ZBTB8OS	32888658	0.991000	0.36638	0.979000	0.43373	0.993000	0.82548	0.908000	0.28545	1.533000	0.49186	0.655000	0.94253	CAA	.	.	none		0.488	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		A	33116071	G	A	33116071	1	1	35	0	1	0	0	0	0	0	0	0	17554	1280	45	2		2	ZBTB8OS	1	33116071	5'Flank	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10932239	33116071	216134550	6	23233										
RLF	6018	hgsc.bcm.edu	37	chr1	40697260	40697262	+	In_Frame_Del	DEL	GTC	GTC	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agatacttttttggagcgctGtcgtcagtttggtgtcatag							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:40697260_40697262delGTC	ENST00000372771.4	+	7	1046_1048	c.1019_1021delGTC	c.(1018-1023)tgtcgt>tgt	p.R341del		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	341					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTGGAGCGCTGTCGTCAGTTTGG	0.365																																					p.340_340del		Pindel,Atlas-Indel	.											.	RLF	152	.	0			c.1018_1020del						PASS	.																																			SO:0001651	inframe_deletion	6018	exon7			.		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1019_1021delGTC	1.37:g.40697263_40697265delGTC	ENSP00000361857:p.Arg341del	Somatic	200	.	.		WXS	Illumina HiSeq	Phase_I	179	36	0.201	NM_012421	Q14CQ1|Q9NU60	In_Frame_Del	DEL	ENST00000372771.4	37	CCDS448.1																																																																																			.	.	none		0.365	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		-	40697262	GTC	-	40697260	7	5	35	1	0	1	0	1	0	0	0	0	13389	1377	48	0	1045	0	RLF	1	40697260	In_Frame_Del	DEL	GTC	TCGA-GS-A9TZ-01A-11D-A38X-10	7581189	40697260	208553361	7	23234										
EBNA1BP2	10969	hgsc.bcm.edu	37	chr1	43637173	43637173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcatctctcgctggaagtcGtcttctggatcaacagcttt	8	12	5	0	rs367548162		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:43637173G>A	ENST00000236051.2	-	3	441	c.300C>T	c.(298-300)gaC>gaT	p.D100D	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.D155D	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	100					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGGAAGTCGTCTTCTGGAT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19764	0.0		0.0	False		,,,				2504	0.0				p.D155D		Atlas-SNP	.											.	EBNA1BP2	37	.	0			c.C465T						PASS	.	G	,	1,4405	2.1+/-5.4	0,1,2202	135	130	132		465,300	-1.7	1	1		132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EBNA1BP2	NM_001159936.1,NM_006824.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	155/362,100/307	43637173	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10969	exon4			GAAGTCGTCTTCT	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.300C>T	1.37:g.43637173G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	125	37	0.296	NM_001159936	Q96A66	Silent	SNP	ENST00000236051.2	37	CCDS478.1																																																																																			.	.	none		0.493	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			A	43637173	G	A	43637173	2	1	35	1	0	0	0	0	0	0	0	1	4885	1136	40	1		1	EBNA1BP2	1	43637173	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2939913	43637173	205613448	8	23235										
ATPAF1	64756	hgsc.bcm.edu	37	chr1	47110904	47110904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tacaaaaaactcataaccttCccttcttggcagagcacata	4	12	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:47110904C>T	ENST00000371937.4	-	7	717	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ATPAF1_ENST00000542495.1_Missense_Mutation_p.E54K|ATPAF1_ENST00000576409.1_Missense_Mutation_p.E228K|ATPAF1_ENST00000532925.1_Missense_Mutation_p.E117K|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	205					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TCATAACCTTCCCTTCTTGGC	0.393																																					p.E228K	Melanoma(138;107 1777 21672 30337 52312)	Atlas-SNP	.											.	ATPAF1	19	.	0			c.G682A						PASS	.						158	150	153					1																	47110904		2203	4300	6503	SO:0001583	missense	64756	exon7			AACCTTCCCTTCT	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"Mitochondrial respiratory chain complex assembly factors"	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.613G>A	1.37:g.47110904C>T	ENSP00000361005:p.Glu205Lys	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	54	19	0.351852	NM_022745	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052768	0.75960	.	.	ENSG00000123472	ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	T	0.49139	0.79	5.81	4.9	0.64082	.	0.088508	0.85682	N	0.000000	T	0.47248	0.1435	L	0.50333	1.59	0.58432	D	0.999992	P;P	0.40578	0.505;0.722	B;B	0.42625	0.158;0.393	T	0.42189	-0.9466	10	0.36615	T	0.2	-8.6794	14.9549	0.71104	0.0:0.9317:0.0:0.0683	.	117;205	B7Z7I6;Q5TC12	.;ATPF1_HUMAN	K	205;9;54;117	ENSP00000361005:E205K	ENSP00000361005:E205K	E	-	1	0	ATPAF1	46883491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.021000	0.76425	1.470000	0.48102	0.650000	0.86243	GAA	.	.	none		0.393	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		T	47110904	C	T	47110904	3	4	35	1	0	0	0	0	1	0	0	0	1200	864	30	2	385	2	ATPAF1	1	47110904	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3473731	47110904	202139717	9	23236										
HOOK1	51361	hgsc.bcm.edu	37	chr1	60325900	60325900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aacatgaaaataagatgcttCgcttacagcaagaaggctct	8	8	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:60325900C>T	ENST00000371208.3	+	15	1689	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	HOOK1_ENST00000395561.2_Missense_Mutation_p.R436C|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	478	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TAAGATGCTTCGCTTACAGCA	0.353																																					p.R478C		Atlas-SNP	.											.	HOOK1	54	.	0			c.C1432T						PASS	.						108	112	111					1																	60325900		2203	4300	6503	SO:0001583	missense	51361	exon15			ATGCTTCGCTTAC	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1432C>T	1.37:g.60325900C>T	ENSP00000360252:p.Arg478Cys	Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	169	42	0.248521	NM_015888	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220105	0.79464	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.23348	1.91;1.91	4.95	4.95	0.65309	.	0.171400	0.51477	D	0.000098	T	0.48259	0.1490	M	0.69823	2.125	0.80722	D	1	D	0.60575	0.988	P	0.58820	0.846	T	0.50242	-0.8851	10	0.72032	D	0.01	.	18.7375	0.91761	0.0:1.0:0.0:0.0	.	478	Q9UJC3	HOOK1_HUMAN	C	478;436	ENSP00000360252:R478C;ENSP00000378928:R436C	ENSP00000360252:R478C	R	+	1	0	HOOK1	60098488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.167000	0.50793	2.733000	0.93635	0.655000	0.94253	CGC	.	.	none		0.353	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		T	60325900	C	T	60325900	3	4	35	1	0	0	0	0	1	0	0	0	7282	884	31	1	1490	1	HOOK1	1	60325900	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13214996	60325900	188924721	10	23237										
SGIP1	84251	hgsc.bcm.edu	37	chr1	67133214	67133214	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcctttttgctgatcacagaGgcgcagcccggtaagaactc	10	12	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:67133214G>C	ENST00000371037.4	+	9	550	c.473G>C	c.(472-474)aGg>aCg	p.R158T	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Splice_Site_p.R162T|SGIP1_ENST00000371035.3_Splice_Site_p.R115T|SGIP1_ENST00000371039.1_Intron|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	158					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGATCACAGAGGCGCAGCCCG	0.423																																					p.R158T		Atlas-SNP	.											.	SGIP1	272	.	0			c.G473C						PASS	.						171	173	172					1																	67133214		2203	4300	6503	SO:0001630	splice_region_variant	84251	exon9			CACAGAGGCGCAG	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.472-1G>C	1.37:g.67133214G>C		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	90	20	0.222222	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974426	0.74246	.	.	ENSG00000118473	ENST00000237247;ENST00000371035;ENST00000371037	T;T;T	0.17528	2.27;2.27;2.27	6.01	6.01	0.97437	.	1.194550	0.05982	N	0.644385	T	0.28928	0.0718	L	0.50333	1.59	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.00484	-1.1712	10	0.29301	T	0.29	0.4172	18.015	0.89236	0.0:0.0:1.0:0.0	.	158	Q9BQI5	SGIP1_HUMAN	T	162;115;158	ENSP00000237247:R162T;ENSP00000360074:R115T;ENSP00000360076:R158T	ENSP00000237247:R162T	R	+	2	0	SGIP1	66905802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.078000	0.76821	2.861000	0.98227	0.650000	0.86243	AGG	.	.	none		0.423	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Missense_Mutation	C	67133214	G	C	67133214	5	2	35	1	0	0	0	0	0	0	1	0	14206	1014	35	4	507	4	SGIP1	1	67133214	Splice_Site	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	6807314	67133214	182117407	11	23238										
TGFBR3	7049	hgsc.bcm.edu	37	chr1	92161330	92161330	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttagggtgtccagaccatggAaaattgctataaaggagaga	12	5	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:92161330A>T	ENST00000525962.1	-	15	2397	c.2336T>A	c.(2335-2337)tTc>tAc	p.F779Y	TGFBR3_ENST00000370399.2_Missense_Mutation_p.F778Y|TGFBR3_ENST00000212355.4_Missense_Mutation_p.F779Y			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	779					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CAGACCATGGAAAATTGCTAT	0.443																																					p.F779Y		Atlas-SNP	.											.	TGFBR3	103	.	0			c.T2336A						PASS	.						106	101	103					1																	92161330		2203	4300	6503	SO:0001583	missense	7049	exon16			CCATGGAAAATTG	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2336T>A	1.37:g.92161330A>T	ENSP00000436127:p.Phe779Tyr	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	124	32	0.258065	NM_003243	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923604	0.92319	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.5	5.5	0.81552	.	0.171303	0.52532	D	0.000075	T	0.25005	0.0607	L	0.51422	1.61	0.45822	D	0.998696	P;P;P	0.51653	0.824;0.947;0.824	B;P;B	0.51550	0.258;0.673;0.258	T	0.03296	-1.1051	10	0.14656	T	0.56	-19.6117	15.6091	0.76699	1.0:0.0:0.0:0.0	.	779;778;779	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	Y	779;778;779;778	ENSP00000212355:F779Y;ENSP00000359426:F778Y;ENSP00000436127:F779Y;ENSP00000432638:F778Y	ENSP00000212355:F779Y	F	-	2	0	TGFBR3	91933918	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	5.420000	0.66441	2.090000	0.63153	0.460000	0.39030	TTC	.	.	none		0.443	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92161330	A	T	92161330	3	4	35	1	0	0	0	0	1	0	0	0	15820	246	9	5	227	5	TGFBR3	1	92161330	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	25028116	92161330	157089291	12	23239										
LRRC39	127495	hgsc.bcm.edu	37	chr1	100623819	100623819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atcacatatatctctgttaaCagccagttctagtttctcca	4	11	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:100623819C>A	ENST00000370137.1	-	6	679	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	LRRC39_ENST00000370138.1_Missense_Mutation_p.V161F|LRRC39_ENST00000342895.3_Missense_Mutation_p.V161F	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	161										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TCTCTGTTAACAGCCAGTTCT	0.398																																					p.V161F		Atlas-SNP	.											LRRC39,caecum,carcinoma,+1,1	LRRC39	37	1	0			c.G481T						PASS	.						180	186	184					1																	100623819		2203	4300	6503	SO:0001583	missense	127495	exon6			TGTTAACAGCCAG	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.481G>T	1.37:g.100623819C>A	ENSP00000359156:p.Val161Phe	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	179	44	0.24581	NM_144620	B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	CCDS766.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734973	0.48939	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.17528	2.27;2.27;2.27	5.36	5.36	0.76844	.	0.000000	0.52532	D	0.000062	T	0.25269	0.0614	L	0.51422	1.61	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;P	0.66979	0.948;0.888	T	0.00939	-1.1507	10	0.20046	T	0.44	.	19.4651	0.94934	0.0:1.0:0.0:0.0	.	161;161	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	F	161	ENSP00000359156:V161F;ENSP00000359157:V161F;ENSP00000344470:V161F	ENSP00000344470:V161F	V	-	1	0	LRRC39	100396407	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.784000	0.62411	2.671000	0.90904	0.655000	0.94253	GTT	.	.	none		0.398	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		A	100623819	C	A	100623819	3	1	35	1	0	0	0	0	1	0	0	0	8995	478	17	4	546	4	LRRC39	1	100623819	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	8462489	100623819	148626802	13	23240										
FNDC7	163479	hgsc.bcm.edu	37	chr1	109265194	109265194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggatctagcaaatcatcttCagcaatgaccctgaaaactg	7	10	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:109265194C>T	ENST00000370017.3	+	5	1113	c.836C>T	c.(835-837)tCa>tTa	p.S279L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S280L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	279	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AAATCATCTTCAGCAATGACC	0.448																																					p.S279L		Atlas-SNP	.											.	FNDC7	113	.	0			c.C836T						PASS	.						72	63	66					1																	109265194		2203	4300	6503	SO:0001583	missense	163479	exon5			CATCTTCAGCAAT		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.836C>T	1.37:g.109265194C>T	ENSP00000359034:p.Ser279Leu	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	113	33	0.292035	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277637	0.40294	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.22134	1.97;1.97	5.91	4.94	0.65067	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.688360	0.15255	N	0.272122	T	0.06508	0.0167	L	0.44542	1.39	0.09310	N	1	B;P	0.40000	0.349;0.698	B;B	0.27380	0.079;0.079	T	0.16364	-1.0405	10	0.25751	T	0.34	-6.6208	12.3366	0.55071	0.3228:0.6772:0.0:0.0	.	280;279	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	L	279;280	ENSP00000359034:S279L;ENSP00000271311:S280L	ENSP00000271311:S280L	S	+	2	0	FNDC7	109066717	0.798000	0.28890	0.279000	0.24732	0.776000	0.43924	3.242000	0.51384	2.807000	0.96579	0.555000	0.69702	TCA	.	.	none		0.448	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		T	109265194	C	T	109265194	3	4	35	1	0	0	0	0	1	0	0	0	5973	838	29	2	854	2	FNDC7	1	109265194	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	8641375	109265194	139985427	14	23241										
STXBP3	6814	hgsc.bcm.edu	37	chr1	109289364	109289364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccgcagtgtcgggaagatggCgccgccggtggcagagaggg	20	10	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:109289364C>T	ENST00000370008.3	+	1	55	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	2	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGGAAGATGGCGCCGCCGGTG	0.687											OREG0013625	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2V		Atlas-SNP	.											.	STXBP3	44	.	0			c.C5T						PASS	.						22	28	26					1																	109289364		2035	3903	5938	SO:0001583	missense	6814	exon1			AGATGGCGCCGCC	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.5C>T	1.37:g.109289364C>T	ENSP00000359025:p.Ala2Val	Somatic	138	0	0	1418	WXS	Illumina HiSeq	Phase_I	93	29	0.311828	NM_007269	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549245	0.86127	.	.	ENSG00000116266	ENST00000370008	T	0.73469	-0.75	4.22	4.22	0.49857	.	0.230025	0.40064	N	0.001189	T	0.72366	0.3451	L	0.36672	1.1	0.39234	D	0.963721	D	0.76494	0.999	D	0.65874	0.939	T	0.77143	-0.2696	10	0.87932	D	0	-4.7439	11.9693	0.53055	0.0:1.0:0.0:0.0	.	2	O00186	STXB3_HUMAN	V	2	ENSP00000359025:A2V	ENSP00000359025:A2V	A	+	2	0	STXBP3	109090887	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.716000	0.54904	2.192000	0.70111	0.305000	0.20034	GCG	.	.	none		0.687	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		T	109289364	C	T	109289364	3	4	35	1	0	0	0	0	1	0	0	0	15353	768	27	1	7	1	STXBP3	1	109289364	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	24170	109289364	139961257	15	23242										
ST7L	54879	hgsc.bcm.edu	37	chr1	113126634	113126634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggactttggtgctggcactgCtgtgactgcctataaattgt	12	8	0	1	rs200595897		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:113126634C>A	ENST00000358039.4	-	7	1120	c.816G>T	c.(814-816)caG>caT	p.Q272H	ST7L_ENST00000369668.2_Missense_Mutation_p.Q272H|ST7L_ENST00000538187.1_Missense_Mutation_p.Q216H|ST7L_ENST00000369669.1_Missense_Mutation_p.Q89H|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Missense_Mutation_p.Q255H|ST7L_ENST00000360743.4_Missense_Mutation_p.Q272H|ST7L_ENST00000543570.1_Missense_Mutation_p.Q255H|ST7L_ENST00000544629.1_Missense_Mutation_p.Q207H|ST7L_ENST00000343210.7_Missense_Mutation_p.Q272H|ST7L_ENST00000490067.1_Missense_Mutation_p.Q255H	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	272					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGGCACTGCTGTGACTGCC	0.408																																					p.Q272H		Atlas-SNP	.											.	ST7L	31	.	0			c.G816T						PASS	.						179	160	166					1																	113126634		2203	4300	6503	SO:0001583	missense	54879	exon7			GCACTGCTGTGAC	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.816G>T	1.37:g.113126634C>A	ENSP00000350734:p.Gln272His	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	164	46	0.280488	NM_138729	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.673767|2.673767	0.47781|0.47781	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664|ENST00000418497	T;T;T;T;T;T;T;T;T;T;T|.	0.75704|.	-0.96;2.18;-0.96;-0.96;2.18;2.18;2.18;2.18;2.18;-0.96;2.18|.	5.66|5.66	1.52|1.52	0.23074|0.23074	Tetratricopeptide-like helical (1);|.	0.475023|.	0.24191|.	N|.	0.040710|.	T|T	0.47507|0.47507	0.1449|0.1449	M|M	0.62723|0.62723	1.935|1.935	0.45946|0.45946	D|D	0.998775|0.998775	D;P;P;B;B;B;B;B|.	0.64830|.	0.994;0.882;0.593;0.14;0.14;0.14;0.14;0.169|.	P;P;B;B;B;B;B;B|.	0.62491|.	0.903;0.579;0.187;0.077;0.132;0.132;0.132;0.125|.	T|T	0.44159|0.44159	-0.9346|-0.9346	10|5	0.51188|.	T|.	0.08|.	-8.5894|-8.5894	9.5348|9.5348	0.39216|0.39216	0.0:0.6983:0.0:0.3017|0.0:0.6983:0.0:0.3017	.|.	255;216;207;272;255;255;272;272|.	B7Z8V6;B7Z7D4;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;.;ST7L_HUMAN|.	H|I	272;272;150;207;89;255;272;272;255;216;255;150;216|144	ENSP00000350734:Q272H;ENSP00000353972:Q272H;ENSP00000445499:Q207H;ENSP00000358683:Q89H;ENSP00000417140:Q255H;ENSP00000358682:Q272H;ENSP00000345312:Q272H;ENSP00000358680:Q255H;ENSP00000444021:Q216H;ENSP00000444088:Q255H;ENSP00000358678:Q216H|.	ENSP00000345312:Q272H|.	Q|S	-|-	3|2	2|0	ST7L|ST7L	112928157|112928157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	0.888000|0.888000	0.28268|0.28268	0.273000|0.273000	0.22049|0.22049	0.563000|0.563000	0.77884|0.77884	CAG|AGC	C|0.999;T|0.001	.	alt		0.408	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			A	113126634	C	A	113126634	3	1	35	1	0	0	0	0	1	0	0	0	15229	796	28	4	986	4	ST7L	1	113126634	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3837270	113126634	136123987	16	23243										
ITGA10	8515	hgsc.bcm.edu	37	chr1	145537774	145537774	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtggaatgtgccgccccttCtgctcatgcccggctctgca	12	15	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:145537774C>T	ENST00000369304.3	+	21	2787	c.2612C>T	c.(2611-2613)tCt>tTt	p.S871F	ITGA10_ENST00000539363.1_Missense_Mutation_p.S728F|ITGA10_ENST00000538811.1_Missense_Mutation_p.S740F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	871					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCGCCCCTTCTGCTCATGCC	0.592																																					p.S871F		Atlas-SNP	.											.	ITGA10	131	.	0			c.C2612T						PASS	.						62	65	64					1																	145537774		2203	4300	6503	SO:0001583	missense	8515	exon21			CCCCTTCTGCTCA	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2612C>T	1.37:g.145537774C>T	ENSP00000358310:p.Ser871Phe	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	80	18	0.225	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002323	0.35320	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.48201	0.82;0.82;0.82	5.71	4.8	0.61643	Integrin alpha-2 (1);	0.906824	0.09669	N	0.771322	T	0.33933	0.0880	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44877	0.708;0.708;0.845;0.752	P;P;P;P	0.51266	0.664;0.567;0.664;0.595	T	0.35375	-0.9791	10	0.59425	D	0.04	.	12.2744	0.54726	0.0:0.9179:0.0:0.0821	.	837;740;728;871	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	F	871;837;728;740	ENSP00000358310:S871F;ENSP00000439894:S728F;ENSP00000440011:S740F	ENSP00000358310:S871F	S	+	2	0	ITGA10	144249131	0.018000	0.18449	0.006000	0.13384	0.468000	0.32798	2.425000	0.44723	1.423000	0.47198	0.655000	0.94253	TCT	.	.	none		0.592	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		T	145537774	C	T	145537774	3	4	35	1	0	0	0	0	1	0	0	0	7873	913	32	2	2694	2	ITGA10	1	145537774	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	32411140	145537774	103712847	17	23244										
DCST1	149095	hgsc.bcm.edu	37	chr1	155013976	155013976	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggctacacgcctgaggataCcatggactcaggggagacag	15	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:155013976C>G	ENST00000295542.1	+	7	731	c.635C>G	c.(634-636)aCc>aGc	p.T212S	DCST1_ENST00000392480.1_Missense_Mutation_p.T212S|DCST1_ENST00000423025.2_Missense_Mutation_p.T187S|DCST1_ENST00000368419.2_Missense_Mutation_p.T212S	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	212						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGAGGATACCATGGACTCA	0.577																																					p.T212S		Atlas-SNP	.											.	DCST1	69	.	0			c.C635G						PASS	.						53	53	53					1																	155013976		2203	4300	6503	SO:0001583	missense	149095	exon7			AGGATACCATGGA	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.635C>G	1.37:g.155013976C>G	ENSP00000295542:p.Thr212Ser	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	76	25	0.328947	NM_152494	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	C	0.205	-1.041740	0.02013	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.27	-0.463	0.12164	.	3.667800	0.01104	N	0.005440	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.04229	-1.0967	10	0.17832	T	0.49	-0.0307	2.1458	0.03787	0.1423:0.455:0.2238:0.1789	.	187;237;212	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	S	212;212;187;212	ENSP00000295542:T212S;ENSP00000376271:T212S;ENSP00000387369:T187S;ENSP00000357404:T212S	ENSP00000295542:T212S	T	+	2	0	DCST1	153280600	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-0.171000	0.10797	-0.379000	0.06801	ACC	.	.	none		0.577	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		G	155013976	C	G	155013976	3	3	35	1	0	0	0	0	1	0	0	0	4302	507	18	4	657	4	DCST1	1	155013976	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	9476202	155013976	94236645	18	23245										
IQGAP3	128239	hgsc.bcm.edu	37	chr1	156502774	156502774	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaggctggcatcacccacctCagaagcaggctacgggtgtt	13	12	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:156502774C>T	ENST00000361170.2	-	32	4111	c.4101G>A	c.(4099-4101)ctG>ctA	p.L1367L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1367					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACCCACCTCAGAAGCAGGC	0.562																																					p.L1367L		Atlas-SNP	.											.	IQGAP3	146	.	0			c.G4101A						PASS	.						169	135	146					1																	156502774		2203	4300	6503	SO:0001819	synonymous_variant	128239	exon32			CCACCTCAGAAGC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4101G>A	1.37:g.156502774C>T		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	88	25	0.284091	NM_178229	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																			.	.	none		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156502774	C	T	156502774	2	4	35	1	0	0	0	0	0	0	0	1	7816	813	29	2		2	IQGAP3	1	156502774	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1488798	156502774	92747847	19	23246										
LY9	4063	hgsc.bcm.edu	37	chr1	160783595	160783595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aatggaggctccattcttacCgtctcccgaacaccatgtga	8	13	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:160783595C>T	ENST00000263285.6	+	3	654	c.624C>T	c.(622-624)acC>acT	p.T208T	LY9_ENST00000368037.5_Silent_p.T208T|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.T168T|LY9_ENST00000341032.4_Silent_p.T208T|LY9_ENST00000392203.4_Silent_p.T208T|LY9_ENST00000471816.1_3'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	208	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCATTCTTACCGTCTCCCGAA	0.562																																					p.T208T		Atlas-SNP	.											.	LY9	115	.	0			c.C624T						PASS	.						172	164	167					1																	160783595		2203	4300	6503	SO:0001819	synonymous_variant	4063	exon3			TCTTACCGTCTCC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.624C>T	1.37:g.160783595C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	58	11	0.189655	NM_001261457	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	CCDS30916.1																																																																																			.	.	none		0.562	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		T	160783595	C	T	160783595	2	4	35	1	0	0	0	0	0	0	0	1	9101	639	23	1		1	LY9	1	160783595	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4280821	160783595	88467026	20	23247										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186077619	186077619	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctaatattgctggaactgatGagccccgggatatcactgtg	11	9	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:186077619G>A	ENST00000271588.4	+	71	11108	c.10879G>A	c.(10879-10881)Gag>Aag	p.E3627K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3627K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3627	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAACTGATGAGCCCCGGGA	0.423																																					p.E3627K		Atlas-SNP	.											.	HMCN1	797	.	0			c.G10879A						PASS	.						117	107	110					1																	186077619		2203	4300	6503	SO:0001583	missense	83872	exon71			ACTGATGAGCCCC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10879G>A	1.37:g.186077619G>A	ENSP00000271588:p.Glu3627Lys	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	55	10	0.181818	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654284	0.47467	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.398703	0.29508	N	0.011949	T	0.53786	0.1818	L	0.31752	0.955	0.09310	N	1	P	0.36837	0.571	P	0.44860	0.462	T	0.46247	-0.9205	10	0.05620	T	0.96	.	14.7159	0.69269	0.069:0.0:0.931:0.0	.	3627	Q96RW7	HMCN1_HUMAN	K	3627	ENSP00000271588:E3627K;ENSP00000356462:E3627K	ENSP00000271588:E3627K	E	+	1	0	HMCN1	184344242	1.000000	0.71417	0.787000	0.31911	0.930000	0.56654	4.165000	0.58196	2.941000	0.99782	0.655000	0.94253	GAG	.	.	none		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186077619	G	A	186077619	3	1	35	1	0	0	0	0	1	0	0	0	7220	1291	45	2	11161	2	HMCN1	1	186077619	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	25294024	186077619	63173002	21	23248										
PTGS2	5743	hgsc.bcm.edu	37	chr1	186648465	186648465	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caaacttacgtgttgagcagTtttctccatagaatcctgtc	7	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:186648465T>A	ENST00000367468.5	-	2	294	c.158A>T	c.(157-159)aAc>aTc	p.N53I	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	53	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TGTTGAGCAGTTTTCTCCATA	0.433																																					p.N53I		Atlas-SNP	.											.	PTGS2	144	.	0			c.A158T						PASS	.						137	115	122					1																	186648465		2203	4300	6503	SO:0001583	missense	5743	exon2			GAGCAGTTTTCTC	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.158A>T	1.37:g.186648465T>A	ENSP00000356438:p.Asn53Ile	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	152	26	0.171053	NM_000963	A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006720	0.93287	.	.	ENSG00000073756	ENST00000367468	T	0.69306	-0.39	5.27	5.27	0.74061	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.83543	0.0097	10	0.87932	D	0	-28.3851	14.879	0.70516	0.0:0.0:0.0:1.0	.	53	P35354	PGH2_HUMAN	I	53	ENSP00000356438:N53I	ENSP00000356438:N53I	N	-	2	0	PTGS2	184915088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.807000	0.86032	1.979000	0.57680	0.533000	0.62120	AAC	.	.	none		0.433	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		A	186648465	T	A	186648465	3	1	35	1	0	0	0	0	1	0	0	0	12756	1725	60	5	1692	5	PTGS2	1	186648465	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	570846	186648465	62602156	22	23249										
ASPM	259266	hgsc.bcm.edu	37	chr1	197093397	197093397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagatattgttttctttataCtctttgtgtgttttagaaag	8	3	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:197093397C>T	ENST00000367409.4	-	13	3489	c.3233G>A	c.(3232-3234)aGt>aAt	p.S1078N	ASPM_ENST00000367408.1_Missense_Mutation_p.S328N|ASPM_ENST00000294732.7_Missense_Mutation_p.S1078N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1078					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCTTTATACTCTTTGTGTG	0.289																																					p.S1078N		Atlas-SNP	.											.	ASPM	444	.	0			c.G3233A						PASS	.						79	81	80					1																	197093397		2202	4283	6485	SO:0001583	missense	259266	exon13			TTTATACTCTTTG	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3233G>A	1.37:g.197093397C>T	ENSP00000356379:p.Ser1078Asn	Somatic	765	0	0		WXS	Illumina HiSeq	Phase_I	579	154	0.265976	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	3.744	-0.052963	0.07362	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58060	0.36;1.62;1.29	5.53	-0.305	0.12784	Calponin homology domain (1);	0.516189	0.20992	N	0.082012	T	0.15609	0.0376	N	0.01267	-0.92	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.17806	-1.0357	10	0.13853	T	0.58	.	2.2892	0.04134	0.1201:0.3525:0.1182:0.4092	.	1078;1078	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1078;1078;328	ENSP00000356379:S1078N;ENSP00000294732:S1078N;ENSP00000356378:S328N	ENSP00000294732:S1078N	S	-	2	0	ASPM	195360020	0.000000	0.05858	0.001000	0.08648	0.861000	0.49209	0.013000	0.13310	0.101000	0.17610	0.585000	0.79938	AGT	.	.	none		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197093397	C	T	197093397	3	4	35	1	0	0	0	0	1	0	0	0	1056	565	20	2	7264	2	ASPM	1	197093397	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	10444932	197093397	52157224	23	23250										
PLXNA2	5362	hgsc.bcm.edu	37	chr1	208216538	208216538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcattgatatccgtctggagCtcagcaaaagctatgagaat	9	8	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:208216538C>T	ENST00000367033.3	-	21	4642	c.3885G>A	c.(3883-3885)gaG>gaA	p.E1295E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1295					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGTCTGGAGCTCAGCAAAAG	0.552																																					p.E1295E		Atlas-SNP	.											.	PLXNA2	178	.	0			c.G3885A						PASS	.						76	73	74					1																	208216538		2203	4300	6503	SO:0001819	synonymous_variant	5362	exon21			CTGGAGCTCAGCA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3885G>A	1.37:g.208216538C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	70	10	0.142857	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	CCDS31013.1																																																																																			.	.	none		0.552	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208216538	C	T	208216538	2	4	35	1	0	0	0	0	0	0	0	1	12120	796	28	2		2	PLXNA2	1	208216538	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	11123141	208216538	41034083	24	23251										
DTL	51514	hgsc.bcm.edu	37	chr1	212218054	212218054	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aatgaagaaggctttgttcgAttgtataacacagaatcaca	8	6	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:212218054A>C	ENST00000366991.4	+	3	545	c.231A>C	c.(229-231)cgA>cgC	p.R77R	DTL_ENST00000542077.1_Silent_p.R35R|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	77					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCTTTGTTCGATTGTATAACA	0.303																																					p.R77R		Atlas-SNP	.											DTL,colon,carcinoma,+1,3	DTL	52	3	0			c.A231C						PASS	.						70	72	72					1																	212218054		2203	4300	6503	SO:0001819	synonymous_variant	51514	exon3			TGTTCGATTGTAT	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.231A>C	1.37:g.212218054A>C		Somatic	724	0	0		WXS	Illumina HiSeq	Phase_I	584	66	0.113014	NM_016448	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	CCDS1502.1																																																																																			.	.	none		0.303	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		C	212218054	A	C	212218054	2	2	35	1	0	0	0	0	0	0	0	1	4787	320	12	5		5	DTL	1	212218054	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	4001516	212218054	37032567	25	23252										
HHIPL2	79802	hgsc.bcm.edu	37	chr1	222721252	222721252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaagggggcccgtaatccagGcactgggggtgtccctgcag	16	11	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:222721252G>A	ENST00000343410.6	-	1	193	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	45					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGTAATCCAGGCACTGGGGGT	0.607																																					p.C45C		Atlas-SNP	.											.	HHIPL2	122	.	0			c.C135T						PASS	.						31	35	34					1																	222721252		1918	4130	6048	SO:0001819	synonymous_variant	79802	exon1			ATCCAGGCACTGG	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.135C>T	1.37:g.222721252G>A		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	69	22	0.318841	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																			.	.	none		0.607	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222721252	G	A	222721252	2	1	35	1	0	0	0	0	0	0	0	1	7094	1195	42	2		2	HHIPL2	1	222721252	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10503198	222721252	26529369	26	23253										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226924300	226924300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccaatgagggagctaggcagCtccgagttcccggggtagga	16	10	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:226924300C>T	ENST00000272117.3	-	1	859	c.860G>A	c.(859-861)aGc>aAc	p.S287N	ITPKB_ENST00000366784.1_Missense_Mutation_p.S287N|ITPKB_ENST00000429204.1_Missense_Mutation_p.S287N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	287					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGCTAGGCAGCTCCGAGTTCC	0.577																																					p.S287N	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.G860A						PASS	.						47	52	50					1																	226924300		2203	4300	6503	SO:0001583	missense	3707	exon2			AGGCAGCTCCGAG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.860G>A	1.37:g.226924300C>T	ENSP00000272117:p.Ser287Asn	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	47	11	0.234043	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837740	0.32513	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25250	1.82;1.82;1.81	4.21	2.28	0.28536	.	0.705821	0.13409	N	0.389999	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37009	-0.9724	10	0.13853	T	0.58	.	7.0283	0.24952	0.0:0.7728:0.0:0.2272	.	287	P27987	IP3KB_HUMAN	N	287	ENSP00000272117:S287N;ENSP00000411152:S287N;ENSP00000355748:S287N	ENSP00000272117:S287N	S	-	2	0	ITPKB	224990923	0.021000	0.18746	0.002000	0.10522	0.102000	0.19082	1.392000	0.34486	0.387000	0.25024	0.561000	0.74099	AGC	.	.	none		0.577	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		T	226924300	C	T	226924300	3	4	35	1	0	0	0	0	1	0	0	0	7918	797	28	2	2008	2	ITPKB	1	226924300	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4203048	226924300	22326321	27	23254										
GGPS1	9453	hgsc.bcm.edu	37	chr1	235505867	235505867	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttggtcaaggcctgaaagcaCccaggtgcagaatatcttgc	11	10	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:235505867C>G	ENST00000282841.5	+	4	915	c.683C>G	c.(682-684)aCc>aGc	p.T228S	GGPS1_ENST00000391855.2_Missense_Mutation_p.T174S|GGPS1_ENST00000476121.1_Missense_Mutation_p.T228S|GGPS1_ENST00000358966.2_Missense_Mutation_p.T228S|GGPS1_ENST00000488594.1_Missense_Mutation_p.T228S			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	228					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	CCTGAAAGCACCCAGGTGCAG	0.363																																					p.T228S		Atlas-SNP	.											.	GGPS1	23	.	0			c.C683G						PASS	.						70	74	73					1																	235505867		2203	4300	6503	SO:0001583	missense	9453	exon4			AAAGCACCCAGGT	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.683C>G	1.37:g.235505867C>G	ENSP00000282841:p.Thr228Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	106	34	0.320755	NM_001037277	A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163108	0.21538	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.76316	0.06;0.02;0.06;0.06;0.06;0.06;-1.01	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	N	0.16098	0.37	0.80722	D	1	B	0.18741	0.03	B	0.23275	0.045	T	0.60591	-0.7233	10	0.09084	T	0.74	-11.438	20.8794	0.99867	0.0:1.0:0.0:0.0	.	228	O95749	GGPPS_HUMAN	S	228;228;228;228;174;228;228	ENSP00000418690:T228S;ENSP00000417772:T228S;ENSP00000351852:T228S;ENSP00000282841:T228S;ENSP00000375728:T174S;ENSP00000420183:T228S;ENSP00000417865:T228S	ENSP00000282841:T228S	T	+	2	0	GGPS1	233572490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.932000	0.63476	2.941000	0.99782	0.655000	0.94253	ACC	.	.	none		0.363	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		G	235505867	C	G	235505867	3	3	35	1	0	0	0	0	1	0	0	0	6360	507	18	4	693	4	GGPS1	1	235505867	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	8581567	235505867	13744754	28	23255										
LYST	1130	hgsc.bcm.edu	37	chr1	235966354	235966354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggatgacaattcttctgcaGattgatgactctataaatca	8	7	4	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:235966354G>C	ENST00000389794.3	-	8	3740	c.3566C>G	c.(3565-3567)tCt>tGt	p.S1189C	LYST_ENST00000389793.2_Missense_Mutation_p.S1189C|LYST_ENST00000536965.1_Missense_Mutation_p.S1189C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1189					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTCTGCAGATTGATGACT	0.328																																					p.S1189C		Atlas-SNP	.											.	LYST	370	.	0			c.C3566G						PASS	.						59	57	58					1																	235966354		2203	4300	6503	SO:0001583	missense	1130	exon8			TCTGCAGATTGAT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3566C>G	1.37:g.235966354G>C	ENSP00000374444:p.Ser1189Cys	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	92	35	0.380435	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727281	0.48833	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63417	-0.04;-0.04;1.13	5.2	5.2	0.72013	.	1.585600	0.03487	N	0.216015	T	0.67683	0.2919	N	0.22421	0.69	0.28915	N	0.892491	D;P	0.61697	0.99;0.77	P;P	0.52031	0.688;0.497	T	0.68281	-0.5450	10	0.59425	D	0.04	.	18.7355	0.91753	0.0:0.0:1.0:0.0	.	1189;1189	Q99698-3;Q99698	.;LYST_HUMAN	C	1189	ENSP00000374444:S1189C;ENSP00000374443:S1189C;ENSP00000438315:S1189C	ENSP00000374443:S1189C	S	-	2	0	LYST	234032977	0.699000	0.27786	0.992000	0.48379	0.504000	0.33889	1.100000	0.31025	2.452000	0.82932	0.655000	0.94253	TCT	.	.	none		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235966354	G	C	235966354	3	2	35	1	0	0	0	0	1	0	0	0	9128	942	33	4	8023	4	LYST	1	235966354	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	460487	235966354	13284267	29	23256										
CHRM3	1131	hgsc.bcm.edu	37	chr1	240071401	240071401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgttggaaagagaactgtgcCtccgggagagtgcttcattc	13	8	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:240071401C>A	ENST00000255380.4	+	5	1429	c.650C>A	c.(649-651)cCt>cAt	p.P217H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	217					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGAACTGTGCCTCCGGGAGAG	0.483																																					p.P217H		Atlas-SNP	.											CHRM3,NS,malignant_melanoma,0,2	CHRM3	118	2	0			c.C650A						PASS	.						156	161	160					1																	240071401		2203	4300	6503	SO:0001583	missense	1131	exon5			CTGTGCCTCCGGG	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.650C>A	1.37:g.240071401C>A	ENSP00000255380:p.Pro217His	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	160	22	0.1375	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704655	0.68615	.	.	ENSG00000133019	ENST00000255380	T	0.38560	1.13	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.182925	0.47852	D	0.000212	T	0.57829	0.2080	L	0.56280	1.765	0.80722	D	1	D	0.64830	0.994	P	0.62491	0.903	T	0.58272	-0.7665	10	0.72032	D	0.01	-22.6919	15.6263	0.76859	0.1379:0.8621:0.0:0.0	.	217	P20309	ACM3_HUMAN	H	217	ENSP00000255380:P217H	ENSP00000255380:P217H	P	+	2	0	CHRM3	238138024	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	4.831000	0.62752	2.731000	0.93534	0.650000	0.86243	CCT	.	.	none		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240071401	C	A	240071401	3	1	35	1	0	0	0	0	1	0	0	0	3378	681	24	4	652	4	CHRM3	1	240071401	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4105047	240071401	9179220	30	23257										
OR2AK2	391191	hgsc.bcm.edu	37	chr1	248129487	248129487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctccttgcgttccccttcacGggataaggcggtggcagtat	12	12	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:248129487G>A	ENST00000366480.3	+	1	953	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			TCCCCTTCACGGGATAAGGCG	0.502																																					p.R285Q	Melanoma(45;390 1181 23848 28461 41504)	Atlas-SNP	.											.	OR2AK2	90	.	0			c.G854A						PASS	.						144	115	124					1																	248129487		2203	4300	6503	SO:0001583	missense	391191	exon1			CTTCACGGGATAA	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.854G>A	1.37:g.248129487G>A	ENSP00000355436:p.Arg285Gln	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	167	27	0.161677	NM_001004491	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.303766	0.01353	.	.	ENSG00000187080	ENST00000366480	T	0.00044	8.83	3.04	-1.76	0.08006	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00446	-1.495	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42616	-0.9441	9	0.02654	T	1	.	0.2301	0.00179	0.2893:0.1425:0.247:0.3211	.	285	Q8NG84	O2AK2_HUMAN	Q	285	ENSP00000355436:R285Q	ENSP00000355436:R285Q	R	+	2	0	OR2AK2	246196110	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.412000	0.01039	-0.016000	0.14127	-0.672000	0.03802	CGG	.	.	none		0.502	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		A	248129487	G	A	248129487	3	1	35	1	0	0	0	0	1	0	0	0	10986	1116	39	1	856	1	OR2AK2	1	248129487	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8058086	248129487	1121134	31	23258										
OR2M2	391194	hgsc.bcm.edu	37	chr1	248343746	248343746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttctcctggatcctgggctcTacagatggaatcattgatgc	10	10	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr1:248343746T>C	ENST00000359682.2	+	1	459	c.459T>C	c.(457-459)tcT>tcC	p.S153S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			TCCTGGGCTCTACAGATGGAA	0.438																																					p.S153S		Atlas-SNP	.											.	OR2M2	149	.	0			c.T459C						PASS	.						183	187	185					1																	248343746		2203	4300	6503	SO:0001819	synonymous_variant	391194	exon1			GGGCTCTACAGAT	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.459T>C	1.37:g.248343746T>C		Somatic	376	0	0		WXS	Illumina HiSeq	Phase_I	258	71	0.275194	NM_001004688	A3KFT4	Silent	SNP	ENST00000359682.2	37	CCDS31106.1																																																																																			.	.	none		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		C	248343746	T	C	248343746	2	2	35	1	0	0	0	0	0	0	0	1	11010	1509	53	3		3	OR2M2	1	248343746	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	214259	248343746	906875	32	23259										
TPO	7173	hgsc.bcm.edu	37	chr2	1440080	1440080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acatgtctggatgtctccctTacatgctgcccccaaaatgc	7	14	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:1440080T>C	ENST00000345913.4	+	5	497	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	TPO_ENST00000382198.1_Missense_Mutation_p.Y136H|TPO_ENST00000349624.3_Missense_Mutation_p.Y136H|TPO_ENST00000539820.1_Missense_Mutation_p.Y136H|TPO_ENST00000329066.4_Missense_Mutation_p.Y136H|TPO_ENST00000382269.3_Missense_Mutation_p.Y136H|TPO_ENST00000337415.3_Missense_Mutation_p.Y136H|TPO_ENST00000346956.3_Missense_Mutation_p.Y136H|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.Y136H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	136					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTCTCCCTTACATGCTGCC	0.428																																					p.Y136H		Atlas-SNP	.											.	TPO	224	.	0			c.T406C						PASS	.						148	139	142					2																	1440080		2203	4300	6503	SO:0001583	missense	7173	exon5			CTCCCTTACATGC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.406T>C	2.37:g.1440080T>C	ENSP00000318820:p.Tyr136His	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	107	34	0.317757	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	T	0.627	-0.818619	0.02776	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.35	1.28	0.21552	.	1.077190	0.06972	N	0.818284	T	0.28267	0.0698	N	0.04018	-0.295	0.09310	N	1	B;B;B;B;B	0.16166	0.007;0.002;0.016;0.007;0.004	B;B;B;B;B	0.16722	0.009;0.004;0.016;0.005;0.002	T	0.22836	-1.0205	10	0.15952	T	0.53	-12.0061	7.5539	0.27812	0.0:0.2707:0.0:0.7293	.	136;136;136;136;136	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	H	136;136;136;136;136;136;136;136;136;136;65	ENSP00000371704:Y136H;ENSP00000337263:Y136H;ENSP00000318820:Y136H;ENSP00000263886:Y136H;ENSP00000332044:Y136H;ENSP00000444840:Y136H;ENSP00000329869:Y136H;ENSP00000371636:Y136H;ENSP00000390994:Y136H;ENSP00000371633:Y136H;ENSP00000405788:Y65H	ENSP00000329869:Y136H	Y	+	1	0	TPO	1419087	0.007000	0.16637	0.078000	0.20375	0.040000	0.13550	-0.165000	0.09968	-0.013000	0.14199	0.260000	0.18958	TAC	.	.	none		0.428	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1440080	T	C	1440080	3	2	35	1	0	0	0	0	1	0	0	0	16407	1754	61	2	420	2	TPO	2	1440080	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10		1440080	241759293	33	23260										
PXDN	7837	hgsc.bcm.edu	37	chr2	1652954	1652954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gccccgctcctggcccgggaGtcattgggggggatcatgac	16	13	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:1652954G>T	ENST00000252804.4	-	17	2648	c.2598C>A	c.(2596-2598)gaC>gaA	p.D866E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	866					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCCGGGAGTCATTGGGGG	0.657																																					p.D866E		Atlas-SNP	.											.	PXDN	255	.	0			c.C2598A						PASS	.						16	19	18					2																	1652954		2106	4209	6315	SO:0001583	missense	7837	exon17			CCGGGAGTCATTG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2598C>A	2.37:g.1652954G>T	ENSP00000252804:p.Asp866Glu	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622388	0.66787	.	.	ENSG00000130508	ENST00000252804	D	0.84800	-1.9	5.36	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	H	0.94222	3.51	0.53005	D	0.999969	D	0.71674	0.998	D	0.75484	0.986	D	0.94094	0.7356	10	0.66056	D	0.02	-61.9551	10.546	0.45060	0.172:0.0:0.828:0.0	.	866	Q92626	PXDN_HUMAN	E	866	ENSP00000252804:D866E	ENSP00000252804:D866E	D	-	3	2	PXDN	1631961	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.692000	0.61746	1.376000	0.46267	0.558000	0.71614	GAC	.	.	none		0.657	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		T	1652954	G	T	1652954	3	4	35	1	0	0	0	0	1	0	0	0	12847	1020	36	4	1869	4	PXDN	2	1652954	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	212874	1652954	241546419	34	23261										
PXDN	7837	hgsc.bcm.edu	37	chr2	1653227	1653227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgatgccccgaggggtgttGaagccattctcgtacacgga	13	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:1653227G>A	ENST00000252804.4	-	17	2375	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	775					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGGGGTGTTGAAGCCATTCT	0.652																																					p.F775F		Atlas-SNP	.											.	PXDN	255	.	0			c.C2325T						PASS	.						88	103	98					2																	1653227		2054	4195	6249	SO:0001819	synonymous_variant	7837	exon17			GGTGTTGAAGCCA	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2325C>T	2.37:g.1653227G>A		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	101	25	0.247525	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																			.	.	none		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1653227	G	A	1653227	2	1	35	1	0	0	0	0	0	0	0	1	12847	1281	45	2		2	PXDN	2	1653227	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	273	1653227	241546146	35	23262										
CNRIP1	25927	hgsc.bcm.edu	37	chr2	68521067	68521067	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcattcatactcaatgacaGagaaggggcttccccactgg	10	11	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:68521067G>A	ENST00000263655.3	-	3	1027	c.422C>T	c.(421-423)tCt>tTt	p.S141F	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	141										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTCAATGACAGAGAAGGGGCT	0.507																																					p.S141F		Atlas-SNP	.											.	CNRIP1	45	.	0			c.C422T						PASS	.						145	117	126					2																	68521067		2203	4300	6503	SO:0001583	missense	25927	exon3			ATGACAGAGAAGG	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.422C>T	2.37:g.68521067G>A	ENSP00000263655:p.Ser141Phe	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	131	34	0.259542	NM_015463	B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504342	0.44558	.	.	ENSG00000119865	ENST00000263655	.	.	.	5.42	5.42	0.78866	.	0.327702	0.34959	N	0.003560	T	0.48857	0.1523	N	0.24115	0.695	0.80722	D	1	B	0.24963	0.115	B	0.34138	0.176	T	0.50189	-0.8857	9	0.56958	D	0.05	-7.1396	13.8208	0.63320	0.0:0.2784:0.7216:0.0	.	141	Q96F85	CNRP1_HUMAN	F	141	.	ENSP00000263655:S141F	S	-	2	0	CNRIP1	68374571	0.945000	0.32115	0.978000	0.43139	0.959000	0.62525	1.594000	0.36697	2.538000	0.85594	0.650000	0.86243	TCT	.	.	none		0.507	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		A	68521067	G	A	68521067	3	1	35	1	0	0	0	0	1	0	0	0	3633	942	33	2	137	2	CNRIP1	2	68521067	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	66867840	68521067	174678306	36	23263										
LRRTM1	347730	hgsc.bcm.edu	37	chr2	80529909	80529909	+	Nonsense_Mutation	SNP	C	C	A													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtcctcgccctgtgcgtactCcgggctggcgcactgcaagt							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:80529909C>A	ENST00000295057.3	-	2	1692	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.E346*|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	346	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGTGCGTACTCCGGGCTGGCG	0.677										HNSCC(69;0.2)																											p.E346X		Atlas-SNP	.											.	LRRTM1	251	.	0			c.G1036T						PASS	.						23	22	22					2																	80529909		2203	4299	6502	SO:0001587	stop_gained	347730	exon2			CGTACTCCGGGCT	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1036G>T	2.37:g.80529909C>A	ENSP00000295057:p.Glu346*	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	58	20	0.344828	NM_178839	A8K397|D6W5K1|Q96DN1	Nonsense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	38	7.030314	0.98013	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	.	.	.	5.32	5.32	0.75619	.	0.123786	0.52532	U	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	.	.	.	X	346	.	.	E	-	1	0	LRRTM1	80383420	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	4.909000	0.63314	2.452000	0.82932	0.655000	0.94253	GAG	.	.	none		0.677	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		A	80529909	C	A	80529909	4	1	35	1	0	0	0	0	0	1	0	0	9039	864	30	4	536	4	LRRTM1	2	80529909	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12008842	80529909	162669464	37	23264	475	2								
LRRTM1	347730	hgsc.bcm.edu	37	chr2	80529910	80529910	+	Silent	SNP	C	C	A													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcctcgccctgtgcgtactcCgggctggcgcactgcaagtt							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:80529910C>A	ENST00000295057.3	-	2	1691	c.1035G>T	c.(1033-1035)ccG>ccT	p.P345P	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P345P|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	345	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTGCGTACTCCGGGCTGGCGC	0.677										HNSCC(69;0.2)																											p.P345P		Atlas-SNP	.											.	LRRTM1	251	.	0			c.G1035T						PASS	.						23	22	22					2																	80529910		2203	4299	6502	SO:0001819	synonymous_variant	347730	exon2			GTACTCCGGGCTG	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1035G>T	2.37:g.80529910C>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	60	21	0.35	NM_178839	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	CCDS1966.1																																																																																			.	.	none		0.677	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		A	80529910	C	A	80529910	2	1	35	1	0	0	0	0	0	0	0	1	9039	639	23	4		4	LRRTM1	2	80529910	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1	80529910	162669463	38	23265	475	2								
ST6GAL2	84620	hgsc.bcm.edu	37	chr2	107460134	107460134	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcaaacccatcttgggactgGgcccatttctgcaggtctcc	9	14	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:107460134G>T	ENST00000409382.3	-	2	910	c.300C>A	c.(298-300)gcC>gcA	p.A100A	ST6GAL2_ENST00000409087.3_Silent_p.A100A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.A100A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	100					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTGGGACTGGGCCCATTTCT	0.587																																					p.A100A		Atlas-SNP	.											.	ST6GAL2	159	.	0			c.C300A						PASS	.						41	50	47					2																	107460134		2190	4288	6478	SO:0001819	synonymous_variant	84620	exon2			GGACTGGGCCCAT	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.300C>A	2.37:g.107460134G>T		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	185	69	0.372973	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																			.	.	none		0.587	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460134	G	T	107460134	2	4	35	1	0	0	0	0	0	0	0	1	15221	1219	43	4		4	ST6GAL2	2	107460134	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	26930224	107460134	135739239	39	23266										
DBI	1622	hgsc.bcm.edu	37	chr2	120124666	120124666	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgcacagccaggctgcgaaGgtgcagcgggcgggaggccc	19	12	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:120124666G>T	ENST00000355857.3	+	1	140				C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000542275.1_5'Flank|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000409094.1_Intron|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000535757.1_5'UTR|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000393103.2_5'Flank|C2orf76_ENST00000409877.1_5'Flank|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000535617.1_Intron|DBI_ENST00000311521.4_5'UTR	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						AGGCTGCGAAGGTGCAGCGGG	0.662																																					p.K13N		Atlas-SNP	.											.	DBI	10	.	0			c.G39T						PASS	.						21	24	23					2																	120124666		2055	4193	6248	SO:0001627	intron_variant	1622	exon1			TGCGAAGGTGCAG	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.9+30G>T	2.37:g.120124666G>T		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	102	43	0.421569	NM_001178043	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	CCDS42740.1																																																																																			.	.	none		0.662	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		T	120124666	G	T	120124666	1	4	35	0	1	0	0	0	0	0	0	0	4251	1014	35	4		4	DBI	2	120124666	Intron	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	12664532	120124666	123074707	40	23267										
CNTNAP5	129684	hgsc.bcm.edu	37	chr2	125530582	125530582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcgactgcagctgaacagcCagttgtttgtaggtagggga	14	7	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:125530582C>A	ENST00000431078.1	+	17	3101	c.2737C>A	c.(2737-2739)Cag>Aag	p.Q913K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	913	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTGAACAGCCAGTTGTTTGT	0.507																																					p.Q913K		Atlas-SNP	.											.	CNTNAP5	405	.	0			c.C2737A						PASS	.						100	95	97					2																	125530582		1909	4127	6036	SO:0001583	missense	129684	exon17			AACAGCCAGTTGT	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2737C>A	2.37:g.125530582C>A	ENSP00000399013:p.Gln913Lys	Somatic	250	0	0		WXS	Illumina HiSeq	Phase_I	230	49	0.213043	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	c	31	5.067704	0.93950	.	.	ENSG00000155052	ENST00000431078	T	0.48836	0.8	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.151491	0.29868	N	0.010984	T	0.72922	0.3521	M	0.88842	2.985	0.58432	D	0.999999	D	0.69078	0.997	D	0.67231	0.95	T	0.72924	-0.4144	10	0.31617	T	0.26	.	18.7016	0.91621	0.0:1.0:0.0:0.0	.	913	Q8WYK1	CNTP5_HUMAN	K	913	ENSP00000399013:Q913K	ENSP00000399013:Q913K	Q	+	1	0	CNTNAP5	125247052	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.686000	0.84128	2.664000	0.90586	0.645000	0.84053	CAG	.	.	none		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125530582	C	A	125530582	3	1	35	1	0	0	0	0	1	0	0	0	3650	595	21	4	2803	4	CNTNAP5	2	125530582	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5405916	125530582	117668791	41	23268										
CYP27C1	339761	hgsc.bcm.edu	37	chr2	127957076	127957076	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tccggcctcggtccatttggTactgtatgtccctcaacttg	9	13	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:127957076T>A	ENST00000335247.7	-	4	558	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	CYP27C1_ENST00000409327.1_Missense_Mutation_p.Y143F	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	143						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTCCATTTGGTACTGTATGTC	0.483																																					p.Y143F		Atlas-SNP	.											.	CYP27C1	52	.	0			c.A428T						PASS	.						128	111	117					2																	127957076		2203	4300	6503	SO:0001583	missense	339761	exon4			ATTTGGTACTGTA	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.428A>T	2.37:g.127957076T>A	ENSP00000334128:p.Tyr143Phe	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	92	30	0.326087	NM_001001665	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652546	0.29336	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.68624	-0.34;-0.34	4.27	1.04	0.20106	.	0.423021	0.24864	N	0.034983	T	0.40670	0.1126	N	0.08118	0	0.20403	N	0.9999	B	0.09022	0.002	B	0.10450	0.005	T	0.30090	-0.9990	10	0.59425	D	0.04	-25.285	5.7206	0.17985	0.0:0.2811:0.4352:0.2837	.	143	Q4G0S4	C27C1_HUMAN	F	143	ENSP00000334128:Y143F;ENSP00000387198:Y143F	ENSP00000334128:Y143F	Y	-	2	0	CYP27C1	127673546	1.000000	0.71417	0.865000	0.33974	0.468000	0.32798	1.167000	0.31847	0.201000	0.20466	0.460000	0.39030	TAC	.	.	none		0.483	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		A	127957076	T	A	127957076	3	1	35	1	0	0	0	0	1	0	0	0	4160	1638	57	5	710	5	CYP27C1	2	127957076	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2426494	127957076	115242297	42	23269										
LRP1B	53353	hgsc.bcm.edu	37	chr2	141660530	141660530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgtctacatccagcttccaaCcttcataacatgagcacttg	5	14	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:141660530C>A	ENST00000389484.3	-	23	4696	c.3725G>T	c.(3724-3726)gGt>gTt	p.G1242V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1242	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCTTCCAACCTTCATAACA	0.358										TSP Lung(27;0.18)																											p.G1242V	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											LRP1B,NS,carcinoma,-1,1	LRP1B	1315	1	0			c.G3725T						PASS	.						156	144	148					2																	141660530		2203	4300	6503	SO:0001583	missense	53353	exon23			TTCCAACCTTCAT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3725G>T	2.37:g.141660530C>A	ENSP00000374135:p.Gly1242Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	158	43	0.272152	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203252	0.95033	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92752	-3.1;-3.1	5.44	5.44	0.79542	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99368	1.0919	10	0.87932	D	0	.	19.6316	0.95708	0.0:1.0:0.0:0.0	.	425;1242	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1242;1180;387	ENSP00000374135:G1242V;ENSP00000413239:G387V	ENSP00000374135:G1242V	G	-	2	0	LRP1B	141377000	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.729000	0.84864	2.708000	0.92522	0.585000	0.79938	GGT	.	.	none		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141660530	C	A	141660530	3	1	35	1	0	0	0	0	1	0	0	0	8955	507	18	4	10350	4	LRP1B	2	141660530	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13703454	141660530	101538843	43	23270										
TTC21B	79809	hgsc.bcm.edu	37	chr2	166770146	166770146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccgagggttagccattctttCagcaatttctctggaaatca	8	10	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:166770146C>T	ENST00000243344.7	-	16	2286	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	717					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GCCATTCTTTCAGCAATTTCT	0.308																																					p.E717K		Atlas-SNP	.											.	TTC21B	130	.	0			c.G2149A						PASS	.						96	98	98					2																	166770146		2203	4300	6503	SO:0001583	missense	79809	exon16			TTCTTTCAGCAAT	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2149G>A	2.37:g.166770146C>T	ENSP00000243344:p.Glu717Lys	Somatic	381	0	0		WXS	Illumina HiSeq	Phase_I	295	54	0.183051	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216990	0.95104	.	.	ENSG00000123607	ENST00000243344	T	0.61158	0.13	5.39	5.39	0.77823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.172662	0.56097	D	0.000029	T	0.62134	0.2403	M	0.71581	2.175	0.80722	D	1	P	0.48911	0.917	B	0.43950	0.437	T	0.62248	-0.6894	10	0.27785	T	0.31	-20.5549	19.1426	0.93451	0.0:1.0:0.0:0.0	.	717	Q7Z4L5	TT21B_HUMAN	K	717	ENSP00000243344:E717K	ENSP00000243344:E717K	E	-	1	0	TTC21B	166478392	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.487000	0.81328	2.512000	0.84698	0.591000	0.81541	GAA	.	.	none		0.308	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166770146	C	T	166770146	3	4	35	1	0	0	0	0	1	0	0	0	16685	835	29	2	1857	2	TTC21B	2	166770146	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	25109616	166770146	76429227	44	23271										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167145040	167145040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcaatgtttgcctggttctgTtcttcatatgccatggcaac	8	10	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:167145040T>G	ENST00000409435.1	-	9	1220	c.1221A>C	c.(1219-1221)gaA>gaC	p.E407D	SCN9A_ENST00000375387.4_Missense_Mutation_p.E408D|SCN9A_ENST00000303354.6_Missense_Mutation_p.E408D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E407D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	407					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTGGTTCTGTTCTTCATATG	0.393																																					p.E407D		Atlas-SNP	.											SCN9A,colon,carcinoma,-2,1	SCN9A	296	1	0			c.A1221C						PASS	.						127	127	127					2																	167145040		1853	4113	5966	SO:0001583	missense	6335	exon10			GTTCTGTTCTTCA	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1221A>C	2.37:g.167145040T>G	ENSP00000386330:p.Glu407Asp	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	199	44	0.221106	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964450	0.74131	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.74	4.6	0.57074	.	0.087668	0.49305	N	0.000141	D	0.98492	0.9497	M	0.87971	2.92	0.45515	D	0.998479	D;D;D	0.89917	1.0;1.0;0.976	D;D;P	0.91635	0.989;0.999;0.881	D	0.98776	1.0730	10	0.62326	D	0.03	.	8.4814	0.33045	0.0:0.1451:0.0:0.8549	.	407;407;408	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	D	407;408;408;407;272;272	ENSP00000386306:E407D;ENSP00000364536:E408D;ENSP00000304748:E408D;ENSP00000386330:E407D;ENSP00000413212:E272D;ENSP00000393141:E272D	ENSP00000304748:E408D	E	-	3	2	SCN9A	166853286	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.437000	0.21543	2.190000	0.69967	0.528000	0.53228	GAA	.	.	none		0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		G	167145040	T	G	167145040	3	3	35	1	0	0	0	0	1	0	0	0	13925	1722	60	5	4784	5	SCN9A	2	167145040	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	374894	167145040	76054333	45	23272										
XIRP2	129446	hgsc.bcm.edu	37	chr2	168106466	168106466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcaccaaaggtcgtcaagcAaaaggttatcgatgcacatc	9	10	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:168106466A>G	ENST00000409195.1	+	9	8653	c.8564A>G	c.(8563-8565)cAa>cGa	p.Q2855R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2633R|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2855R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2680					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCGTCAAGCAAAAGGTTATC	0.378																																					p.Q2855R		Atlas-SNP	.											XIRP2,NS,carcinoma,0,1	XIRP2	914	1	0			c.A8564G						scavenged	.						118	114	116					2																	168106466		1885	4112	5997	SO:0001583	missense	129446	exon9			TCAAGCAAAAGGT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8564A>G	2.37:g.168106466A>G	ENSP00000386840:p.Gln2855Arg	Somatic	340	2	0.00588235		WXS	Illumina HiSeq	Phase_I	352	114	0.323864	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940991	0.34283	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	5.82	4.64	0.57946	.	0.577929	0.18468	N	0.140332	T	0.07773	0.0195	M	0.67953	2.075	0.09310	N	0.999998	P;P;P	0.49090	0.868;0.919;0.919	B;P;P	0.48795	0.386;0.59;0.59	T	0.08166	-1.0735	10	0.66056	D	0.02	-5.8378	12.1135	0.53852	0.8561:0.1439:0.0:0.0	.	2680;2680;2633	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2855;2855;2633;269	ENSP00000386840:Q2855R;ENSP00000295237:Q2855R;ENSP00000387255:Q2633R	ENSP00000295237:Q2855R	Q	+	2	0	XIRP2	167814712	0.995000	0.38212	0.041000	0.18516	0.307000	0.27823	1.995000	0.40767	1.001000	0.39076	0.533000	0.62120	CAA	.	.	none		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168106466	A	G	168106466	3	3	35	1	0	0	0	0	1	0	0	0	17427	130	5	2	8594	2	XIRP2	2	168106466	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	961426	168106466	75092907	46	23273										
LRP2	4036	hgsc.bcm.edu	37	chr2	170101220	170101220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tactgcagttcttttcatcaGatccatccccacaatcattg	4	13	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:170101220G>A	ENST00000263816.3	-	22	3698	c.3413C>T	c.(3412-3414)tCt>tTt	p.S1138F	LRP2_ENST00000443831.1_Missense_Mutation_p.S1001F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1138	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	CTTTTCATCAGATCCATCCCC	0.453																																					p.S1138F		Atlas-SNP	.											.	LRP2	751	.	0			c.C3413T						PASS	.						158	147	151					2																	170101220		2203	4300	6503	SO:0001583	missense	4036	exon22			TCATCAGATCCAT		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.3413C>T	2.37:g.170101220G>A	ENSP00000263816:p.Ser1138Phe	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	137	44	0.321168	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062054	0.93846	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97870	-4.58;-4.58	5.93	5.93	0.95920	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98640	1.0675	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1001;1138	E9PC35;P98164	.;LRP2_HUMAN	F	1138;1001	ENSP00000263816:S1138F;ENSP00000409813:S1001F	ENSP00000263816:S1138F	S	-	2	0	LRP2	169809466	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.793000	0.99091	2.805000	0.96524	0.655000	0.94253	TCT	.	.	none		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170101220	G	A	170101220	3	1	35	1	0	0	0	0	1	0	0	0	8956	942	33	2	10786	2	LRP2	2	170101220	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1994754	170101220	73098153	47	23274										
HOXD1	3231	hgsc.bcm.edu	37	chr2	177053759	177053759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcggccgtccgtaccgcctcCggccgcgccccagtacgcgc	13	21	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:177053759C>T	ENST00000331462.4	+	1	453	c.230C>T	c.(229-231)cCg>cTg	p.P77L	HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000413969.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	77					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		gtaccgcctccggccgcgccc	0.786																																					p.P77L		Atlas-SNP	.											.	HOXD1	33	.	0			c.C230T						PASS	.						1	1	1					2																	177053759		653	1642	2295	SO:0001583	missense	3231	exon1			CGCCTCCGGCCGC		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.230C>T	2.37:g.177053759C>T	ENSP00000328598:p.Pro77Leu	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	23	7	0.304348	NM_024501	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186401	0.21870	.	.	ENSG00000128645	ENST00000331462	D	0.92699	-3.09	3.21	1.19	0.21007	.	0.231155	0.22488	N	0.059410	T	0.80752	0.4683	N	0.24115	0.695	0.09310	N	0.999994	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.62263	-0.6891	10	0.10377	T	0.69	.	4.8389	0.13478	0.0:0.6184:0.176:0.2056	.	77;77	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	L	77	ENSP00000328598:P77L	ENSP00000328598:P77L	P	+	2	0	HOXD1	176762005	0.000000	0.05858	0.030000	0.17652	0.267000	0.26476	-0.349000	0.07731	0.530000	0.28619	0.491000	0.48974	CCG	.	.	none		0.786	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			T	177053759	C	T	177053759	3	4	35	1	0	0	0	0	1	0	0	0	7318	652	23	1	232	1	HOXD1	2	177053759	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6952539	177053759	66145614	48	23275										
NCKAP1	10787	hgsc.bcm.edu	37	chr2	183822287	183822287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttttgatttcttattcactGcttgactgatagttttggca	7	6	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:183822287G>A	ENST00000361354.4	-	19	2291	c.1919C>T	c.(1918-1920)gCa>gTa	p.A640V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A646V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	640					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTATTCACTGCTTGACTGAT	0.383																																					p.A646V		Atlas-SNP	.											.	NCKAP1	105	.	0			c.C1937T						PASS	.						161	141	148					2																	183822287		2203	4300	6503	SO:0001583	missense	10787	exon20			TTCACTGCTTGAC	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1919C>T	2.37:g.183822287G>A	ENSP00000355348:p.Ala640Val	Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	297	23	0.0774411	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213566	0.58452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31247	1.5;1.5	5.39	4.5	0.54988	.	0.046925	0.85682	D	0.000000	T	0.33498	0.0865	N	0.16656	0.425	0.80722	D	1	D;D	0.57899	0.981;0.976	P;P	0.60117	0.869;0.793	T	0.05886	-1.0858	10	0.17832	T	0.49	-15.0139	15.3439	0.74320	0.0:0.0:0.859:0.141	.	640;646	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	640;646	ENSP00000355348:A640V;ENSP00000354251:A646V	ENSP00000354251:A646V	A	-	2	0	NCKAP1	183530532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	1.230000	0.43646	0.655000	0.94253	GCA	.	.	none		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		A	183822287	G	A	183822287	3	1	35	1	0	0	0	0	1	0	0	0	10221	1319	46	2	1519	2	NCKAP1	2	183822287	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	6768528	183822287	59377086	49	23276										
NCKAP1	10787	hgsc.bcm.edu	37	chr2	183866768	183866768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccaaggcgtgggtattctctGtcacttaaaacagacatatc	8	10	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:183866768G>A	ENST00000361354.4	-	6	888	c.516C>T	c.(514-516)gaC>gaT	p.D172D	NCKAP1_ENST00000360982.2_Silent_p.D178D	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	172					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGTATTCTCTGTCACTTAAAA	0.368																																					p.D178D		Atlas-SNP	.											.	NCKAP1	105	.	0			c.C534T						PASS	.						142	142	142					2																	183866768		2203	4300	6503	SO:0001819	synonymous_variant	10787	exon7			TTCTCTGTCACTT	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.516C>T	2.37:g.183866768G>A		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	237	51	0.21519	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																			.	.	none		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		A	183866768	G	A	183866768	2	1	35	1	0	0	0	0	0	0	0	1	10221	1368	48	2		2	NCKAP1	2	183866768	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	44481	183866768	59332605	50	23277										
FSIP2	401024	hgsc.bcm.edu	37	chr2	186671505	186671505	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagcaaaatcaagccaaactCtatgacactgctatgaaact	5	10	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:186671505C>G	ENST00000424728.1	+	17	17472	c.17472C>G	c.(17470-17472)ctC>ctG	p.L5824L	FSIP2_ENST00000343098.5_Silent_p.L5913L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5824				L -> P (in Ref. 2; CAI46017). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGCCAAACTCTATGACACTG	0.358																																					p.L5913L		Atlas-SNP	.											FSIP2_ENST00000343098,NS,carcinoma,+2,2	FSIP2	251	2	0			c.C17739G						PASS	.						89	83	85					2																	186671505		1854	4092	5946	SO:0001819	synonymous_variant	401024	exon17			CAAACTCTATGAC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17472C>G	2.37:g.186671505C>G		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	201	57	0.283582	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																				.	.	none		0.358	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186671505	C	G	186671505	2	3	35	1	0	0	0	0	0	0	0	1	6075	900	32	4		4	FSIP2	2	186671505	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2804737	186671505	56527868	51	23278										
COL5A2	1290	hgsc.bcm.edu	37	chr2	189916123	189916123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggtcctcgatctcccacacGcccatgagagccagggtccc	10	17	1	1	rs199530997	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:189916123G>A	ENST00000374866.3	-	42	3128	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	952					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTCCCACACGCCCATGAGAG	0.617													G|||	3	0.000599042	0.0	0.0	5008	,	,		13494	0.003		0.0	False		,,,				2504	0.0				p.R952C		Atlas-SNP	.											.	COL5A2	230	.	0			c.C2854T						PASS	.						71	71	71					2																	189916123		2203	4300	6503	SO:0001583	missense	1290	exon42			CCACACGCCCATG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2854C>T	2.37:g.189916123G>A	ENSP00000364000:p.Arg952Cys	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	129	36	0.27907	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.93	3.728045	0.69074	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93604	-3.25	5.83	4.95	0.65309	.	0.319446	0.22337	N	0.061388	D	0.94331	0.8178	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;D	0.66084	0.818;0.941	D	0.93512	0.6854	9	.	.	.	.	16.5704	0.84611	0.0:0.0:0.8688:0.1312	.	592;952	Q5PR22;P05997	.;CO5A2_HUMAN	C	952;592	ENSP00000364000:R952C	.	R	-	1	0	COL5A2	189624368	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	3.115000	0.50391	1.454000	0.47793	0.644000	0.83932	CGT	G|0.999;A|0.001	0.001	strong		0.617	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		A	189916123	G	A	189916123	3	1	35	1	0	0	0	0	1	0	0	0	3697	1087	38	1	1697	1	COL5A2	2	189916123	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3244618	189916123	53283250	52	23279										
STAT1	6772	hgsc.bcm.edu	37	chr2	191873810	191873810	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaaaacggatggtggcaaatGaaacatcattggcagcgtgc	13	7	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:191873810G>A	ENST00000361099.3	-	4	539	c.152C>T	c.(151-153)tCa>tTa	p.S51L	STAT1_ENST00000392322.3_Missense_Mutation_p.S51L|STAT1_ENST00000392323.2_Missense_Mutation_p.S53L|STAT1_ENST00000540176.1_Missense_Mutation_p.S51L|STAT1_ENST00000409465.1_Missense_Mutation_p.S51L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	51					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GGTGGCAAATGAAACATCATT	0.378																																					p.S51L		Atlas-SNP	.											.	STAT1	93	.	0			c.C152T						PASS	.						113	106	108					2																	191873810		2203	4300	6503	SO:0001583	missense	6772	exon4			GCAAATGAAACAT		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.152C>T	2.37:g.191873810G>A	ENSP00000354394:p.Ser51Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	118	22	0.186441	NM_007315	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469238	0.96274	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.52	5.52	0.82312	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.82630	2.6	0.80722	D	1	D;P	0.89917	1.0;0.883	D;P	0.91635	0.999;0.771	T	0.78934	-0.2008	10	0.66056	D	0.02	-14.2715	18.4444	0.90678	0.0:0.0:1.0:0.0	.	51;51	P42224-2;P42224	.;STAT1_HUMAN	L	51;51;51;51;53;51;51;51	ENSP00000354394:S51L;ENSP00000386244:S51L;ENSP00000438703:S51L;ENSP00000376136:S51L;ENSP00000376137:S53L;ENSP00000402548:S51L;ENSP00000411398:S51L;ENSP00000416019:S51L	ENSP00000354394:S51L	S	-	2	0	STAT1	191582055	1.000000	0.71417	0.909000	0.35828	0.913000	0.54294	9.869000	0.99810	2.602000	0.87976	0.557000	0.71058	TCA	.	.	none		0.378	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		A	191873810	G	A	191873810	3	1	35	1	0	0	0	0	1	0	0	0	15263	1294	45	2	2192	2	STAT1	2	191873810	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1957687	191873810	51325563	53	23280										
PLCL1	5334	hgsc.bcm.edu	37	chr2	198950643	198950643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccgttttgttgttctggatgAtgactacattggggatgagt	13	5	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:198950643A>T	ENST00000428675.1	+	2	2800	c.2402A>T	c.(2401-2403)gAt>gTt	p.D801V	PLCL1_ENST00000437704.2_Missense_Mutation_p.D703V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	801	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTCTGGATGATGACTACATT	0.418																																					p.D801V		Atlas-SNP	.											.	PLCL1	358	.	0			c.A2402T						PASS	.						181	168	173					2																	198950643		2203	4300	6503	SO:0001583	missense	5334	exon2			TGGATGATGACTA	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2402A>T	2.37:g.198950643A>T	ENSP00000402861:p.Asp801Val	Somatic	301	0	0		WXS	Illumina HiSeq	Phase_I	306	78	0.254902	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292444	0.59976	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70164	-0.46;-0.46	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	D	0.83362	0.5238	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85396	0.1128	9	.	.	.	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	801;727	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	801;703	ENSP00000402861:D801V;ENSP00000414138:D703V	.	D	+	2	0	PLCL1	198658888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.127000	0.94417	2.308000	0.77769	0.533000	0.62120	GAT	.	.	none		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198950643	A	T	198950643	3	4	35	1	0	0	0	0	1	0	0	0	12039	333	12	5	2408	5	PLCL1	2	198950643	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	7076833	198950643	44248730	54	23281										
PARD3B	117583	hgsc.bcm.edu	37	chr2	206041194	206041194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcagagtgtggggcattttCcaagccatgctttgagaact	12	8	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:206041194C>T	ENST00000406610.2	+	13	2024	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	PARD3B_ENST00000358768.2_Missense_Mutation_p.S544F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S606F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S606F|PARD3B_ENST00000349953.3_Missense_Mutation_p.S606F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	606					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGGCATTTTCCAAGCCATGC	0.393																																					p.S606F		Atlas-SNP	.											.	PARD3B	314	.	0			c.C1817T						PASS	.						82	75	77					2																	206041194		1855	4099	5954	SO:0001583	missense	117583	exon13			CATTTTCCAAGCC	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1817C>T	2.37:g.206041194C>T	ENSP00000385848:p.Ser606Phe	Somatic	360	0	0		WXS	Illumina HiSeq	Phase_I	302	61	0.201987	NM_205863	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		.	.	.	.	.	.	.	.	.	.	C	18.46	3.628482	0.67015	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13089	2.85;2.62;2.85;2.85	6.03	5.11	0.69529	.	0.225498	0.32593	N	0.005900	T	0.24236	0.0587	L	0.44542	1.39	0.35016	D	0.757362	D;D;D;P;P	0.65815	0.995;0.991;0.967;0.941;0.941	P;P;P;P;P	0.59643	0.861;0.736;0.682;0.571;0.555	T	0.06643	-1.0815	10	0.59425	D	0.04	.	11.9098	0.52733	0.2451:0.7549:0.0:0.0	.	606;606;606;544;606	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	F	606;544;606;606	ENSP00000385848:S606F;ENSP00000351618:S544F;ENSP00000317261:S606F;ENSP00000340280:S606F	ENSP00000340280:S606F	S	+	2	0	PARD3B	205749439	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	1.791000	0.38744	2.854000	0.98071	0.655000	0.94253	TCC	.	.	none		0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		T	206041194	C	T	206041194	3	4	35	1	0	0	0	0	1	0	0	0	11444	855	30	2	1867	2	PARD3B	2	206041194	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7090551	206041194	37158179	55	23282										
INO80D	54891	hgsc.bcm.edu	37	chr2	206921607	206921607	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acctcatctataggatcattCtttttcttcctctctttttt	2	11	6	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:206921607C>A	ENST00000403263.1	-	4	683	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	93					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TAGGATCATTCTTTTTCTTCC	0.463																																					p.K93N		Atlas-SNP	.											.	INO80D	134	.	0			c.G279T						PASS	.						133	118	123					2																	206921607		1943	4138	6081	SO:0001583	missense	54891	exon4			ATCATTCTTTTTC		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.279G>T	2.37:g.206921607C>A	ENSP00000384198:p.Lys93Asn	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	184	60	0.326087	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218033	0.79352	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.36157	1.27	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000004	T	0.50120	0.1597	L	0.27053	0.805	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	T	0.53365	-0.8449	10	0.66056	D	0.02	.	19.1182	0.93351	0.0:1.0:0.0:0.0	.	93	Q53TQ3-2	.	N	93	ENSP00000384198:K93N	ENSP00000233270:K93N	K	-	3	2	INO80D	206629852	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.759000	0.62227	2.522000	0.85027	0.462000	0.41574	AAG	.	.	none		0.463	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		A	206921607	C	A	206921607	3	1	35	1	0	0	0	0	1	0	0	0	7749	912	32	4	2836	4	INO80D	2	206921607	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	880413	206921607	36277766	56	23283										
ERBB4	2066	hgsc.bcm.edu	37	chr2	213403208	213403208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgggctggacggtccccgccGccacgagaaggctcacccag	14	16	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:213403208G>A	ENST00000342788.4	-	1	357	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ERBB4_ENST00000436443.1_Missense_Mutation_p.A16V|ERBB4_ENST00000402597.1_Missense_Mutation_p.A16V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	16					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGTCCCCGCCGCCACGAGAAG	0.612										TSP Lung(8;0.080)																											p.A16V		Atlas-SNP	.											ERBB4,NS,carcinoma,0,1	ERBB4	480	1	0			c.C47T						PASS	.						65	80	75					2																	213403208		2203	4300	6503	SO:0001583	missense	2066	exon1			CCCGCCGCCACGA	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.47C>T	2.37:g.213403208G>A	ENSP00000342235:p.Ala16Val	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	100	47	0.47	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.672|3.672	-0.067305|-0.067305	0.07273|0.07273	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.74526|.	-0.85;-0.85;-0.84|.	5.87|5.87	3.77|3.77	0.43336|0.43336	.|.	0.200683|.	0.32593|.	N|.	0.005888|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.08118|0.08118	0|0	0.26490|0.26490	N|N	0.974959|0.974959	B;B;B;B|.	0.25850|.	0.009;0.136;0.009;0.005|.	B;B;B;B|.	0.19148|.	0.008;0.024;0.008;0.003|.	T|T	0.17289|0.17289	-1.0374|-1.0374	10|5	0.02654|.	T|.	1|.	.|.	9.3157|9.3157	0.37932|0.37932	0.1874:0.0:0.8126:0.0|0.1874:0.0:0.8126:0.0	.|.	16;16;16;16|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	V|W	16|16	ENSP00000342235:A16V;ENSP00000403204:A16V;ENSP00000385565:A16V|.	ENSP00000342235:A16V|.	A|R	-|-	2|1	0|2	ERBB4|ERBB4	213111453|213111453	0.904000|0.904000	0.30761|0.30761	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	0.897000|0.897000	0.28390|0.28390	1.510000|1.510000	0.48803|0.48803	-0.467000|-0.467000	0.05162|0.05162	GCG|CGG	.	.	none		0.612	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	213403208	G	A	213403208	3	1	35	1	0	0	0	0	1	0	0	0	5209	1087	38	1	3991	1	ERBB4	2	213403208	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	6481601	213403208	29796165	57	23284										
DOCK10	55619	hgsc.bcm.edu	37	chr2	225637895	225637895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcacgctgacacttccttgCagtttgagctgcagtctgat	9	11	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:225637895C>T	ENST00000258390.7	-	53	6250	c.6183G>A	c.(6181-6183)ctG>ctA	p.L2061L	DOCK10_ENST00000409592.3_Silent_p.L2055L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2061	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACTTCCTTGCAGTTTGAGCT	0.458																																					p.L2061L		Atlas-SNP	.											.	DOCK10	308	.	0			c.G6183A						PASS	.						87	85	86					2																	225637895		2176	4280	6456	SO:0001819	synonymous_variant	55619	exon53			TCCTTGCAGTTTG	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6183G>A	2.37:g.225637895C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	94	10	0.106383	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																			.	.	none		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225637895	C	T	225637895	2	4	35	1	0	0	0	0	0	0	0	1	4685	697	25	2		2	DOCK10	2	225637895	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12234687	225637895	17561478	58	23285										
AGFG1	3267	hgsc.bcm.edu	37	chr2	228401667	228401667	+	Missense_Mutation	SNP	T	T	G													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgctggtccttctgtggcaTcttctacaaacccatttcag							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:228401667T>G	ENST00000310078.8	+	10	1596	c.1336T>G	c.(1336-1338)Tct>Gct	p.S446A	AGFG1_ENST00000409315.1_Missense_Mutation_p.S425A|AGFG1_ENST00000409171.1_Missense_Mutation_p.S446A|AGFG1_ENST00000409979.2_Missense_Mutation_p.S470A|AGFG1_ENST00000373671.3_Missense_Mutation_p.S406A	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	446					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCTGTGGCATCTTCTACAAA	0.368																																					p.S470A		Atlas-SNP	.											.	AGFG1	80	.	0			c.T1408G						PASS	.						95	98	97					2																	228401667		2203	4300	6503	SO:0001583	missense	3267	exon11			GTGGCATCTTCTA		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1336T>G	2.37:g.228401667T>G	ENSP00000312059:p.Ser446Ala	Somatic	293	0	0		WXS	Illumina HiSeq	Phase_I	261	61	0.233716	NM_001135187	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179454	0.38511	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.22539	2.0;2.02;2.02;1.95;2.03	6.06	6.06	0.98353	.	0.104141	0.64402	D	0.000004	T	0.09158	0.0226	N	0.08118	0	0.26605	N	0.972954	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.34354	-0.9832	10	0.10111	T	0.7	-17.8795	7.4788	0.27393	0.0:0.1168:0.0:0.8832	.	406;446;470;446	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	A	470;455;446;425;406;446	ENSP00000387282:S470A;ENSP00000312059:S446A;ENSP00000387154:S425A;ENSP00000362775:S406A;ENSP00000387218:S446A	ENSP00000312059:S446A	S	+	1	0	AGFG1	228109911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.649000	0.37281	2.327000	0.79052	0.533000	0.62120	TCT	.	.	none		0.368	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		G	228401667	T	G	228401667	3	3	35	1	0	0	0	0	1	0	0	0	380	1435	50	5	1450	5	AGFG1	2	228401667	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2763772	228401667	14797706	59	23286	476	2								
AGFG1	3267	hgsc.bcm.edu	37	chr2	228401669	228401669	+	Silent	SNP	T	T	C													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctggtccttctgtggcatcTtctacaaacccatttcagac					rs144069697	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:228401669T>C	ENST00000310078.8	+	10	1598	c.1338T>C	c.(1336-1338)tcT>tcC	p.S446S	AGFG1_ENST00000409315.1_Silent_p.S425S|AGFG1_ENST00000409171.1_Silent_p.S446S|AGFG1_ENST00000409979.2_Silent_p.S470S|AGFG1_ENST00000373671.3_Silent_p.S406S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	446					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTGTGGCATCTTCTACAAACC	0.373																																					p.S470S		Atlas-SNP	.											.	AGFG1	80	.	0			c.T1410C						PASS	.						94	96	96					2																	228401669		2203	4300	6503	SO:0001819	synonymous_variant	3267	exon11			GGCATCTTCTACA		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1338T>C	2.37:g.228401669T>C		Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	257	60	0.233463	NM_001135187	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	CCDS2467.1																																																																																			T|1.000;G|0.000	.	alt		0.373	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		C	228401669	T	C	228401669	2	2	35	1	0	0	0	0	0	0	0	1	380	1596	56	3		3	AGFG1	2	228401669	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2	228401669	14797704	60	23287	476	2								
ALPPL2	251	hgsc.bcm.edu	37	chr2	233272600	233272600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cacacgggtgcagcatgcctCgccagccggcgcctacgccc	12	19	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:233272600C>T	ENST00000295453.3	+	5	573	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	174					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAGCATGCCTCGCCAGCCGGC	0.647																																					p.S174L		Atlas-SNP	.											.	ALPPL2	36	.	0			c.C521T						PASS	.						61	64	63					2																	233272600		2203	4300	6503	SO:0001583	missense	251	exon5			ATGCCTCGCCAGC	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.521C>T	2.37:g.233272600C>T	ENSP00000295453:p.Ser174Leu	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	87	24	0.275862	NM_031313	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	15.41	2.826270	0.50739	.	.	ENSG00000163286	ENST00000295453	D	0.96685	-4.09	2.71	2.71	0.32032	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.96208	3.785	0.58432	D	0.999998	D	0.76494	0.999	D	0.69824	0.966	D	0.99323	1.0907	10	0.87932	D	0	.	13.8099	0.63256	0.0:1.0:0.0:0.0	.	174	P10696	PPBN_HUMAN	L	174	ENSP00000295453:S174L	ENSP00000295453:S174L	S	+	2	0	ALPPL2	232980844	0.997000	0.39634	0.221000	0.23827	0.012000	0.07955	7.137000	0.77295	1.499000	0.48617	0.205000	0.17691	TCG	.	.	none		0.647	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233272600	C	T	233272600	3	4	35	1	0	0	0	0	1	0	0	0	549	893	31	1	539	1	ALPPL2	2	233272600	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4870931	233272600	9926773	61	23288										
OR6B3	150681	hgsc.bcm.edu	37	chr2	240984801	240984801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctctccagcagccggtggccGaggggatgcgcaggacagcc	16	14	1	0	rs371957226		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr2:240984801G>A	ENST00000319423.4	-	1	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCCGGTGGCCGAGGGGATGCG	0.582																																					p.S230L		Atlas-SNP	.											.	OR6B3	37	.	0			c.C689T						PASS	.	G	LEU/SER	0,4234		0,0,2117	49	56	54		689	4.1	0.9	2		54	1,8477		0,1,4238	no	missense	OR6B3	NM_173351.1	145	0,1,6355	AA,AG,GG		0.0118,0.0,0.0079	benign	230/332	240984801	1,12711	2117	4239	6356	SO:0001583	missense	150681	exon1			GTGGCCGAGGGGA		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.689C>T	2.37:g.240984801G>A	ENSP00000322435:p.Ser230Leu	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	178	53	0.297753	NM_173351	Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.347601	0.24426	0.0	1.18E-4	ENSG00000178586	ENST00000319423	T	0.00330	8.08	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.397274	0.18439	N	0.141189	T	0.00666	0.0022	M	0.93678	3.445	0.09310	N	1	P	0.34522	0.455	B	0.40285	0.325	T	0.05131	-1.0904	10	0.87932	D	0	.	14.6272	0.68629	0.0:0.0:1.0:0.0	.	230	Q8NGW1	OR6B3_HUMAN	L	230	ENSP00000322435:S230L	ENSP00000322435:S230L	S	-	2	0	OR6B3	240633474	0.415000	0.25416	0.900000	0.35374	0.073000	0.16967	1.832000	0.39151	2.540000	0.85666	0.603000	0.83216	TCG	.	.	weak		0.582	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			A	240984801	G	A	240984801	3	1	35	1	0	0	0	0	1	0	0	0	11189	1059	37	1	309	1	OR6B3	2	240984801	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	7712201	240984801	2214572	62	23289										
MTMR14	64419	hgsc.bcm.edu	37	chr3	9695364	9695364	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgagactactgtttcagcgtGattccaaacacgaatgggga	11	9	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:9695364G>C	ENST00000296003.4	+	2	341	c.219G>C	c.(217-219)gtG>gtC	p.V73V	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.V73V|MTMR14_ENST00000351233.5_Silent_p.V73V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	73					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTTTCAGCGTGATTCCAAACA	0.498																																					p.V73V		Atlas-SNP	.											.	MTMR14	43	.	0			c.G219C						PASS	.						168	163	164					3																	9695364		1990	4170	6160	SO:0001819	synonymous_variant	64419	exon2			CAGCGTGATTCCA	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.219G>C	3.37:g.9695364G>C		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	132	22	0.166667	NM_022485	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	CCDS43043.1																																																																																			.	.	none		0.498	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		C	9695364	G	C	9695364	2	2	35	1	0	0	0	0	0	0	0	1	9942	1277	45	4		4	MTMR14	3	9695364	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		9695364	188327066	63	23290										
RPUSD3	285367	hgsc.bcm.edu	37	chr3	9885228	9885228	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttggcagcagccccgcgaaGggctggtccccgaggggccc	16	15	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:9885228G>T	ENST00000383820.5	-	2	184	c.183C>A	c.(181-183)ccC>ccA	p.P61P	RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000424438.1_Silent_p.P29P|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Silent_p.P61P	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	61					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GCCCCGCGAAGGGCTGGTCCC	0.667																																					p.P61P		Atlas-SNP	.											.	RPUSD3	19	.	0			c.C183A						PASS	.						26	29	28					3																	9885228		2203	4298	6501	SO:0001819	synonymous_variant	285367	exon2			CGCGAAGGGCTGG	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.183C>A	3.37:g.9885228G>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	117	30	0.25641	NM_001142547	B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	CCDS2586.2	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644836	0.47258	.	.	ENSG00000156990	ENST00000427174	T	0.47528	0.84	4.77	-4.74	0.03249	.	0.288732	0.33959	N	0.004381	T	0.32615	0.0835	.	.	.	0.25345	N	0.988917	.	.	.	.	.	.	T	0.32455	-0.9906	7	0.87932	D	0	.	0.3873	0.00405	0.382:0.1558:0.2102:0.252	.	.	.	.	H	52	ENSP00000400397:P52H	ENSP00000400397:P52H	P	-	2	0	RPUSD3	9860228	0.045000	0.20229	0.031000	0.17742	0.805000	0.45488	-0.355000	0.07671	-1.117000	0.02965	0.655000	0.94253	CCT	.	.	none		0.667	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		T	9885228	G	T	9885228	2	4	35	1	0	0	0	0	0	0	0	1	13668	987	35	4		4	RPUSD3	3	9885228	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	189864	9885228	188137202	64	23291										
STAC	6769	hgsc.bcm.edu	37	chr3	36422176	36422176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccgcgaggacggcgtggacgGgctgcccaaggaggcggtgg	21	11	0	0	rs143848363	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:36422176G>A	ENST00000273183.3	+	1	341	c.41G>A	c.(40-42)gGg>gAg	p.G14E	STAC_ENST00000457375.2_Missense_Mutation_p.G14E|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	14					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCGTGGACGGGCTGCCCAAG	0.692													G|||	7	0.00139776	0.0	0.0043	5008	,	,		13727	0.0		0.004	False		,,,				2504	0.0				p.G14E		Atlas-SNP	.											.	STAC	78	.	0			c.G41A						PASS	.	G	GLU/GLY	0,4384		0,0,2192	17	15	16		41	4.1	1	3	dbSNP_134	16	6,8552		0,6,4273	no	missense	STAC	NM_003149.1	98	0,6,6465	AA,AG,GG		0.0701,0.0,0.0464	possibly-damaging	14/403	36422176	6,12936	2192	4279	6471	SO:0001583	missense	6769	exon1			TGGACGGGCTGCC	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.41G>A	3.37:g.36422176G>A	ENSP00000273183:p.Gly14Glu	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_003149	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	G	18.22	3.574826	0.65878	0.0	7.01E-4	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.77877	-1.13;0.62;0.32	4.96	4.08	0.47627	.	0.202960	0.40064	N	0.001190	T	0.69806	0.3152	L	0.44542	1.39	0.35585	D	0.806587	B;D	0.59767	0.006;0.986	B;P	0.50860	0.008;0.652	T	0.80973	-0.1143	10	0.72032	D	0.01	.	11.0518	0.47894	0.0898:0.0:0.9102:0.0	.	14;14	E9PEA7;Q99469	.;STAC_HUMAN	E	14	ENSP00000273183:G14E;ENSP00000393713:G14E;ENSP00000398403:G14E	ENSP00000273183:G14E	G	+	2	0	STAC	36397180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.713000	0.47194	1.400000	0.46741	0.650000	0.86243	GGG	G|0.999;A|0.001	0.001	strong		0.692	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		A	36422176	G	A	36422176	3	1	35	1	0	0	0	0	1	0	0	0	15238	1232	43	2	43	2	STAC	3	36422176	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	26536948	36422176	161600254	65	23292										
TRANK1	9881	hgsc.bcm.edu	37	chr3	36896835	36896835	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgtgtcccccgtgaggaacaTagagttggggtcattgatgc	14	9	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:36896835T>A	ENST00000429976.2	-	12	4493	c.4246A>T	c.(4246-4248)Atg>Ttg	p.M1416L	TRANK1_ENST00000428977.2_Missense_Mutation_p.M866L|TRANK1_ENST00000301807.6_Missense_Mutation_p.M866L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1416							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTGAGGAACATAGAGTTGGGG	0.552																																					p.M1416L		Atlas-SNP	.											.	TRANK1	398	.	0			c.A4246T						PASS	.						134	131	132					3																	36896835		2076	4222	6298	SO:0001583	missense	9881	exon12			GGAACATAGAGTT	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4246A>T	3.37:g.36896835T>A	ENSP00000416168:p.Met1416Leu	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	111	43	0.387387	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861750	0.32884	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.76968	-1.06;-1.06;-1.06	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	T	0.65154	0.2664	N	0.03177	-0.4	0.46203	D	0.99892	B	0.28178	0.202	B	0.40285	0.325	T	0.64833	-0.6314	10	0.27785	T	0.31	.	15.7204	0.77705	0.0:0.0:0.0:1.0	.	1416	O15050	TRNK1_HUMAN	L	866;1416;866	ENSP00000416826:M866L;ENSP00000416168:M1416L;ENSP00000301807:M866L	ENSP00000301807:M866L	M	-	1	0	TRANK1	36871839	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.193000	0.72075	2.180000	0.69256	0.459000	0.35465	ATG	.	.	none		0.552	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36896835	T	A	36896835	3	1	35	1	0	0	0	0	1	0	0	0	16451	1406	49	5	4579	5	TRANK1	3	36896835	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	474659	36896835	161125595	66	23293										
ZNF167	55888	hgsc.bcm.edu	37	chr3	44612048	44612048	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttactcagagttcccgactCactgaccaccagagaaccca	6	15	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:44612048C>G	ENST00000273320.3	+	6	1875	c.1446C>G	c.(1444-1446)ctC>ctG	p.L482L	ZKSCAN7_ENST00000426540.1_Silent_p.L482L|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	482					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)										GTTCCCGACTCACTGACCACC	0.468																																					p.L482L		Atlas-SNP	.											.	.	.	.	0			c.C1446G						PASS	.						94	96	95					3																	44612048		2203	4300	6503	SO:0001819	synonymous_variant	55888	exon6			CCGACTCACTGAC	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1446C>G	3.37:g.44612048C>G		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	88	23	0.261364	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	CCDS2715.1																																																																																			.	.	none		0.468	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		G	44612048	C	G	44612048	2	3	35	1	0	0	0	0	0	0	0	1	17738	813	29	4		4	ZNF167	3	44612048	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7715213	44612048	153410382	67	23294										
ATRIP	84126	hgsc.bcm.edu	37	chr3	48501189	48501189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	catcttgtcttctgcaggttCcattttgataaacctgctcc	6	12	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:48501189C>T	ENST00000320211.3	+	7	1042	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ATRIP_ENST00000412052.1_Missense_Mutation_p.S217F|ATRIP_ENST00000346691.4_Missense_Mutation_p.S310F|ATRIP_ENST00000357105.6_Missense_Mutation_p.S183F	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	310					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCAGGTTCCATTTTGATA	0.483								Other conserved DNA damage response genes																													p.S310F		Atlas-SNP	.											ATRIP,upper_leg,malignant_melanoma,0,1	ATRIP	41	1	0			c.C929T						PASS	.						129	139	136					3																	48501189		2203	4300	6503	SO:0001583	missense	84126	exon7			CAGGTTCCATTTT	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.929C>T	3.37:g.48501189C>T	ENSP00000323099:p.Ser310Phe	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	67	24	0.358209	NM_130384	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466426	0.63625	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.54866	1.12;1.09;0.55;1.12	5.75	5.75	0.90469	.	0.221381	0.48286	D	0.000200	T	0.71779	0.3380	M	0.70275	2.135	0.47819	D	0.999525	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73959	-0.3818	10	0.87932	D	0	-17.7002	15.4526	0.75285	0.0:1.0:0.0:0.0	.	310;310	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	F	310;310;183;217	ENSP00000323099:S310F;ENSP00000302338:S310F;ENSP00000349620:S183F;ENSP00000400930:S217F	ENSP00000323099:S310F	S	+	2	0	ATRIP	48476193	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.600000	0.46240	2.719000	0.93026	0.655000	0.94253	TCC	.	.	none		0.483	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		T	48501189	C	T	48501189	3	4	35	1	0	0	0	0	1	0	0	0	1205	855	30	2	955	2	ATRIP	3	48501189	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3889141	48501189	149521241	68	23295										
CISH	1154	hgsc.bcm.edu	37	chr3	50645816	50645816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agactcaccagattcccgaaGgtaggagaaggtcttggcta	12	9	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:50645816G>T	ENST00000348721.3	-	2	409	c.229C>A	c.(229-231)Ctt>Att	p.L77I	CISH_ENST00000443053.2_Missense_Mutation_p.L94I	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	77					intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GATTCCCGAAGGTAGGAGAAG	0.567																																					p.L94I		Atlas-SNP	.											.	CISH	27	.	0			c.C280A						PASS	.						71	62	65					3																	50645816		2203	4300	6503	SO:0001583	missense	1154	exon3			CCCGAAGGTAGGA	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.229C>A	3.37:g.50645816G>T	ENSP00000294173:p.Leu77Ile	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	35	12	0.342857	NM_013324	B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833132	0.91036	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.65732	-0.17;-0.12	6.03	6.03	0.97812	SH2 motif (1);	0.066847	0.64402	N	0.000007	T	0.79997	0.4543	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.75619	-0.3255	10	0.33141	T	0.24	-0.1319	20.177	0.98182	0.0:0.0:1.0:0.0	.	94;77	G5E9R1;Q9NSE2	.;CISH_HUMAN	I	94;77	ENSP00000409346:L94I;ENSP00000294173:L77I	ENSP00000294173:L77I	L	-	1	0	CISH	50620820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	2.854000	0.98071	0.655000	0.94253	CTT	.	.	none		0.567	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		T	50645816	G	T	50645816	3	4	35	1	0	0	0	0	1	0	0	0	3437	1000	35	4	555	4	CISH	3	50645816	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2144627	50645816	147376614	69	23296										
ADAMTS9	56999	hgsc.bcm.edu	37	chr3	64606792	64606792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagaaaacagtggcccacctCaggtcacagtctgtaccaca	9	13	3	1	rs373590492		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:64606792C>T	ENST00000498707.1	-	19	3153	c.2811G>A	c.(2809-2811)ctG>ctA	p.L937L	ADAMTS9_ENST00000295903.4_Silent_p.L909L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	937					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCCCACCTCAGGTCACAGT	0.512																																					p.L937L		Atlas-SNP	.											.	ADAMTS9	206	.	0			c.G2811A						PASS	.	C		0,4406		0,0,2203	74	75	75		2811	-0.9	1	3		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS9	NM_182920.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		937/1936	64606792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56999	exon19			CCACCTCAGGTCA	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2811G>A	3.37:g.64606792C>T		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	68	10	0.147059	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1																																																																																			.	.	weak		0.512	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64606792	C	T	64606792	2	4	35	1	0	0	0	0	0	0	0	1	273	813	29	2		2	ADAMTS9	3	64606792	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13960976	64606792	133415638	70	23297										
MITF	4286	hgsc.bcm.edu	37	chr3	69915452	69915452	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggaaaaaagatggaggcgcTtagagttcagatgttcatgc	13	5	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:69915452T>C	ENST00000448226.2	+	2	231				MITF_ENST00000314589.5_Missense_Mutation_p.L4P|MITF_ENST00000472437.1_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000352241.4_Intron			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGGAGGCGCTTAGAGTTCAG	0.453			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														p.L4P	Melanoma(29;269 969 31479 41502 42961)	Atlas-SNP	.		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	MITF	156	.	0			c.T11C						PASS	.						168	169	169					3																	69915452		1868	4113	5981	SO:0001627	intron_variant	4286	exon1			AGGCGCTTAGAGT		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.105-12833T>C	3.37:g.69915452T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	90	9	0.1	NM_198177	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	T	19.91	3.913765	0.72983	.	.	ENSG00000187098	ENST00000451708;ENST00000314589	T;T	0.27720	1.65;2.46	5.93	5.93	0.95920	.	.	.	.	.	T	0.37892	0.1020	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.25082	-1.0142	8	.	.	.	.	15.3592	0.74457	0.0:0.0:0.0:1.0	.	4	O75030-8	.	P	4	ENSP00000398639:L4P;ENSP00000324443:L4P	.	L	+	2	0	MITF	69998142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.555000	0.67301	2.263000	0.75096	0.533000	0.62120	CTT	.	.	none		0.453	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		C	69915452	T	C	69915452	1	2	35	0	1	0	0	0	0	0	0	0	9596	1609	56	3		3	MITF	3	69915452	Intron	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	5308660	69915452	128106978	71	23298										
DTX3L	151636	hgsc.bcm.edu	37	chr3	122288257	122288257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgcaagtttcatcgatgccTttcaacatgcctcatgtcag	7	11	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:122288257T>A	ENST00000296161.4	+	3	1510	c.1321T>A	c.(1321-1323)Ttt>Att	p.F441I	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	441					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CATCGATGCCTTTCAACATGC	0.423																																					p.F441I		Atlas-SNP	.											.	DTX3L	59	.	0			c.T1321A						PASS	.						133	125	128					3																	122288257		2203	4300	6503	SO:0001583	missense	151636	exon3			GATGCCTTTCAAC		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1321T>A	3.37:g.122288257T>A	ENSP00000296161:p.Phe441Ile	Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	158	46	0.291139	NM_138287	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371401	0.61624	.	.	ENSG00000163840	ENST00000296161	T	0.50548	0.74	5.65	3.26	0.37387	.	0.523151	0.17799	N	0.161628	T	0.35248	0.0925	L	0.39898	1.24	0.80722	D	1	P	0.46277	0.875	B	0.41440	0.357	T	0.04537	-1.0944	10	0.30854	T	0.27	-34.6537	6.3834	0.21548	0.0:0.08:0.1591:0.7609	.	441	Q8TDB6	DTX3L_HUMAN	I	441	ENSP00000296161:F441I	ENSP00000296161:F441I	F	+	1	0	DTX3L	123770947	1.000000	0.71417	0.983000	0.44433	0.710000	0.40934	1.590000	0.36654	0.553000	0.29044	0.533000	0.62120	TTT	.	.	none		0.423	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		A	122288257	T	A	122288257	3	1	35	1	0	0	0	0	1	0	0	0	4796	1609	56	5	1331	5	DTX3L	3	122288257	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	52372805	122288257	75734173	72	23299										
PRR23A	729627	hgsc.bcm.edu	37	chr3	138724565	138724565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggctgaacatacttctggcGgaggagtagagcccagcggc	16	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:138724565G>A	ENST00000383163.2	-	1	545	c.546C>T	c.(544-546)tcC>tcT	p.S182S	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	182										endometrium(3)|kidney(1)|lung(7)	11						TACTTCTGGCGGAGGAGTAGA	0.667																																					p.S182S		Atlas-SNP	.											.	PRR23A	35	.	0			c.C546T						PASS	.						21	27	25					3																	138724565		692	1591	2283	SO:0001819	synonymous_variant	729627	exon1			TCTGGCGGAGGAG		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.546C>T	3.37:g.138724565G>A		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	130	17	0.130769	NM_001134659		Silent	SNP	ENST00000383163.2	37	CCDS46923.1																																																																																			.	.	none		0.667	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138724565	G	A	138724565	2	1	35	1	0	0	0	0	0	0	0	1	12594	1103	39	1		1	PRR23A	3	138724565	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	16436308	138724565	59297865	73	23300										
ATR	545	hgsc.bcm.edu	37	chr3	142286975	142286975	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cttggcttctgtacaactgtAttatattcctctggtgtggc	9	9	2	0	rs545455583		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:142286975A>T	ENST00000350721.4	-	2	202	c.81T>A	c.(79-81)aaT>aaA	p.N27K	ATR_ENST00000383101.3_Missense_Mutation_p.N27K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	27					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTACAACTGTATTATATTCCT	0.299								Other conserved DNA damage response genes																													p.N27K		Atlas-SNP	.											ATR,NS,carcinoma,-1,1	ATR	285	1	0			c.T81A						PASS	.						68	71	70					3																	142286975		2203	4293	6496	SO:0001583	missense	545	exon2			AACTGTATTATAT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.81T>A	3.37:g.142286975A>T	ENSP00000343741:p.Asn27Lys	Somatic	639	0	0		WXS	Illumina HiSeq	Phase_I	452	49	0.108407	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477270	0.63849	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.35048	1.33;1.33	4.94	-1.9	0.07665	.	0.051950	0.85682	D	0.000000	T	0.39759	0.1090	L	0.57536	1.79	0.24160	N	0.995664	D	0.58268	0.982	P	0.50109	0.631	T	0.47898	-0.9081	10	0.59425	D	0.04	-16.858	13.1989	0.59756	0.4646:0.0:0.5354:0.0	.	27	Q13535	ATR_HUMAN	K	27	ENSP00000343741:N27K;ENSP00000372581:N27K	ENSP00000343741:N27K	N	-	3	2	ATR	143769665	1.000000	0.71417	0.920000	0.36463	0.854000	0.48673	1.322000	0.33689	-0.230000	0.09840	0.383000	0.25322	AAT	.	.	none		0.299	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142286975	A	T	142286975	3	4	35	1	0	0	0	0	1	0	0	0	1204	446	16	5	8037	5	ATR	3	142286975	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	3562410	142286975	55735455	74	23301										
SIAH2	6478	hgsc.bcm.edu	37	chr3	150480589	150480589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggctgcggcggcggctgcttGctgcagggtttattagcgct	17	10	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:150480589G>A	ENST00000312960.3	-	1	575	c.48C>T	c.(46-48)agC>agT	p.S16S	SIAH2-AS1_ENST00000461943.1_RNA|SIAH2_ENST00000472885.1_Intron	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	16					axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGCTGCTTGCTGCAGGGTT	0.771																																					p.S16S		Atlas-SNP	.											.	SIAH2	33	.	0			c.C48T						PASS	.						4	5	5					3																	150480589		1114	2511	3625	SO:0001819	synonymous_variant	6478	exon1			CTGCTTGCTGCAG	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.48C>T	3.37:g.150480589G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	30	0.340909	NM_005067	O43270	Silent	SNP	ENST00000312960.3	37	CCDS3152.1																																																																																			.	.	none		0.771	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		A	150480589	G	A	150480589	2	1	35	1	0	0	0	0	0	0	0	1	14300	1310	46	2		2	SIAH2	3	150480589	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8193614	150480589	47541841	75	23302										
MME	4311	hgsc.bcm.edu	37	chr3	154860063	154860063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtcctggagattcataatgGatcttgtaagcagcctcagc	10	9	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:154860063G>A	ENST00000460393.1	+	12	1252	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	MME_ENST00000360490.2_Missense_Mutation_p.D378N|MME_ENST00000462745.1_Missense_Mutation_p.D378N|MME_ENST00000493237.1_Missense_Mutation_p.D378N|MME_ENST00000492661.1_Missense_Mutation_p.D378N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	378					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATTCATAATGGATCTTGTAAG	0.398																																					p.D378N		Atlas-SNP	.											.	MME	133	.	0			c.G1132A						PASS	.						85	90	88					3																	154860063		2203	4300	6503	SO:0001583	missense	4311	exon12			ATAATGGATCTTG		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1132G>A	3.37:g.154860063G>A	ENSP00000418525:p.Asp378Asn	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	133	39	0.293233	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287676	0.59976	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.93	5.93	0.95920	Peptidase M13 (1);	0.217410	0.47455	D	0.000221	T	0.66954	0.2842	N	0.17564	0.495	0.45791	D	0.998674	B	0.23185	0.081	B	0.32928	0.155	T	0.60505	-0.7250	10	0.35671	T	0.21	-39.6187	20.3397	0.98756	0.0:0.0:1.0:0.0	.	378	P08473	NEP_HUMAN	N	378	ENSP00000420389:D378N;ENSP00000418525:D378N;ENSP00000419653:D378N;ENSP00000417079:D378N;ENSP00000353679:D378N	ENSP00000353679:D378N	D	+	1	0	MME	156342757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.449000	0.73473	2.803000	0.96430	0.585000	0.79938	GAT	.	.	none		0.398	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154860063	G	A	154860063	3	1	35	1	0	0	0	0	1	0	0	0	9645	1174	41	2	1174	2	MME	3	154860063	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4379474	154860063	43162367	76	23303										
LEKR1	389170	hgsc.bcm.edu	37	chr3	156742690	156742690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	taatccaaaagtataagaaaGaacaagaggaactacaaatg	7	5	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:156742690G>A	ENST00000470811.1	+	12	1768	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E449K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	145										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTATAAGAAAGAACAAGAGGA	0.303																																					p.E449K		Atlas-SNP	.											.	LEKR1	66	.	0			c.G1345A						PASS	.						55	57	57					3																	156742690		2203	4300	6503	SO:0001583	missense	389170	exon11			AAGAAAGAACAAG	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.433G>A	3.37:g.156742690G>A	ENSP00000418214:p.Glu145Lys	Somatic	274	0	0		WXS	Illumina HiSeq	Phase_I	283	40	0.141343	NM_001004316		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	G	18.14	3.558339	0.65538	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.57107	0.47;0.42	5.63	5.63	0.86233	.	0.102632	0.43110	D	0.000612	T	0.68897	0.3051	M	0.69823	2.125	0.37085	D	0.899169	D	0.64830	0.994	D	0.65773	0.938	T	0.68089	-0.5501	10	0.21014	T	0.42	-10.1711	16.6082	0.84836	0.0:0.0:1.0:0.0	.	145	Q6ZMV7	LEKR1_HUMAN	K	145;449	ENSP00000418214:E145K;ENSP00000348936:E449K	ENSP00000348936:E449K	E	+	1	0	LEKR1	158225384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.743000	0.68655	2.644000	0.89710	0.563000	0.77884	GAA	.	.	none		0.303	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		A	156742690	G	A	156742690	3	1	35	1	0	0	0	0	1	0	0	0	8717	943	33	2	1383	2	LEKR1	3	156742690	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1882627	156742690	41279740	77	23304										
SI	6476	hgsc.bcm.edu	37	chr3	164733862	164733862	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtagtcaatgtctgtgtactGaacatcctgaaatatccaaa	7	8	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:164733862G>T	ENST00000264382.3	-	32	3828	c.3766C>A	c.(3766-3768)Cag>Aag	p.Q1256K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGTGTACTGAACATCCTGA	0.333										HNSCC(35;0.089)																											p.Q1256K		Atlas-SNP	.											SI,NS,carcinoma,0,1	SI	500	1	2	Substitution - Missense(2)	lung(2)	c.C3766A						PASS	.						149	160	156					3																	164733862		2203	4300	6503	SO:0001583	missense	6476	exon32			TGTACTGAACATC	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3766C>A	3.37:g.164733862G>T	ENSP00000264382:p.Gln1256Lys	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	95	26	0.273684	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279792	0.80692	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	4.93	4.93	0.64822	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.94021	3.485	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.98111	1.0420	10	0.87932	D	0	.	18.3199	0.90234	0.0:0.0:1.0:0.0	.	1256	P14410	SUIS_HUMAN	K	1256	ENSP00000264382:Q1256K	ENSP00000264382:Q1256K	Q	-	1	0	SI	166216556	1.000000	0.71417	0.981000	0.43875	0.730000	0.41778	7.112000	0.77086	2.557000	0.86248	0.585000	0.79938	CAG	.	.	none		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164733862	G	T	164733862	3	4	35	1	0	0	0	0	1	0	0	0	14297	1299	45	4	1785	4	SI	3	164733862	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	7991172	164733862	33288568	78	23305										
CCDC39	339829	hgsc.bcm.edu	37	chr3	180334082	180334082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgcttaccttgctgatagtgAagtatgtgaaggagatctag	12	6	1	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr3:180334082A>G	ENST00000442201.2	-	19	2775	c.2656T>C	c.(2656-2658)Tca>Cca	p.S886P	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	886	Ser-rich.				axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTGATAGTGAAGTATGTGAA	0.428																																					p.S886P		Atlas-SNP	.											.	CCDC39	242	.	0			c.T2656C						PASS	.						124	114	117					3																	180334082		1901	4119	6020	SO:0001583	missense	339829	exon19			ATAGTGAAGTATG	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2656T>C	3.37:g.180334082A>G	ENSP00000405708:p.Ser886Pro	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	118	31	0.262712	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401054	0.25291	.	.	ENSG00000145075	ENST00000489868;ENST00000442201	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.79100	0.4389	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79909	-0.1604	8	0.41790	T	0.15	.	14.2533	0.66035	1.0:0.0:0.0:0.0	.	886	Q9UFE4	CCD39_HUMAN	P	58;886	.	ENSP00000405708:S886P	S	-	1	0	CCDC39	181816776	0.998000	0.40836	0.868000	0.34077	0.145000	0.21501	3.682000	0.54656	2.101000	0.63845	0.374000	0.22700	TCA	.	.	none		0.428	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		G	180334082	A	G	180334082	3	3	35	1	0	0	0	0	1	0	0	0	2811	246	9	2	177	2	CCDC39	3	180334082	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	15600220	180334082	17688348	79	23306										
TAPT1	202018	hgsc.bcm.edu	37	chr4	16168278	16168278	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgagagggtttacatttgttCtgtgatttactggacggctt	12	5	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:16168278C>T	ENST00000405303.2	-	13	1535	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Silent_p.Q373Q	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	484					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TACATTTGTTCTGTGATTTAC	0.453																																					p.Q484Q		Atlas-SNP	.											.	TAPT1	31	.	0			c.G1452A						PASS	.						182	196	191					4																	16168278		1980	4169	6149	SO:0001819	synonymous_variant	202018	exon13			TTTGTTCTGTGAT	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1452G>A	4.37:g.16168278C>T		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	146	64	0.438356	NM_153365	Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																			.	.	none		0.453	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		T	16168278	C	T	16168278	2	4	35	1	0	0	0	0	0	0	0	1	15551	912	32	2		2	TAPT1	4	16168278	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		16168278	174985998	80	23307										
NCAPG	64151	hgsc.bcm.edu	37	chr4	17843962	17843962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagtgacagtttcagctaggAcgaacaggaggtgtcagact	13	7	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:17843962A>C	ENST00000251496.2	+	20	3060	c.2884A>C	c.(2884-2886)Acg>Ccg	p.T962P	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	962					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTCAGCTAGGACGAACAGGAG	0.368																																					p.T962P		Atlas-SNP	.											.	NCAPG	76	.	0			c.A2884C						PASS	.						85	82	83					4																	17843962		2203	4299	6502	SO:0001583	missense	64151	exon20			GCTAGGACGAACA	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2884A>C	4.37:g.17843962A>C	ENSP00000251496:p.Thr962Pro	Somatic	252	0	0		WXS	Illumina HiSeq	Phase_I	209	84	0.401914	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	A	4.242	0.043803	0.08196	.	.	ENSG00000109805	ENST00000251496	T	0.30981	1.51	5.35	3.2	0.36748	.	1.403140	0.04112	N	0.314705	T	0.26810	0.0656	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.28530	T	0.3	1.9728	4.3865	0.11319	0.6264:0.0:0.3736:0.0	.	962	Q9BPX3	CND3_HUMAN	P	962	ENSP00000251496:T962P	ENSP00000251496:T962P	T	+	1	0	NCAPG	17453060	0.057000	0.20700	0.011000	0.14972	0.298000	0.27526	0.865000	0.27940	0.527000	0.28560	0.533000	0.62120	ACG	.	.	none		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		C	17843962	A	C	17843962	3	2	35	1	0	0	0	0	1	0	0	0	10207	275	10	5	2962	5	NCAPG	4	17843962	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1675684	17843962	173310314	81	23308										
PHOX2B	8929	hgsc.bcm.edu	37	chr4	41747879	41747879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caccgttgggtctttggagcGaagataggacgctggcgaag	16	8	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:41747879G>A	ENST00000226382.2	-	3	1249	c.890C>T	c.(889-891)tCg>tTg	p.S297L	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	297					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTTTGGAGCGAAGATAGGAC	0.682			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.S297L		Atlas-SNP	.	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	PHOX2B	53	.	0			c.C890T						PASS	.						24	34	31					4																	41747879		2203	4300	6503	SO:0001583	missense	8929	exon3	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TGGAGCGAAGATA	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.890C>T	4.37:g.41747879G>A	ENSP00000226382:p.Ser297Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_003924	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522757	0.64747	.	.	ENSG00000109132	ENST00000226382	D	0.91631	-2.88	3.93	3.93	0.45458	.	0.065830	0.64402	D	0.000006	D	0.91815	0.7410	N	0.19112	0.55	0.58432	D	0.999999	D	0.69078	0.997	D	0.67725	0.953	D	0.93125	0.6528	10	0.66056	D	0.02	.	14.8458	0.70259	0.0:0.0:1.0:0.0	.	297	Q99453	PHX2B_HUMAN	L	297	ENSP00000226382:S297L	ENSP00000226382:S297L	S	-	2	0	PHOX2B	41442636	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.197000	0.65141	2.019000	0.59389	0.313000	0.20887	TCG	.	.	none		0.682	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			A	41747879	G	A	41747879	3	1	35	1	0	0	0	0	1	0	0	0	11859	1059	37	1	58	1	PHOX2B	4	41747879	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	23903917	41747879	149406397	82	23309										
POLR2B	5431	hgsc.bcm.edu	37	chr4	57871515	57871515	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggtgttactaaagagaaaaGaattaaatatgcaaaggaag	10	2	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:57871515G>T	ENST00000381227.1	+	9	1417	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	POLR2B_ENST00000314595.5_Missense_Mutation_p.R335I|POLR2B_ENST00000441246.2_Missense_Mutation_p.R328I|RNU6-998P_ENST00000515894.1_RNA|POLR2B_ENST00000431623.2_Missense_Mutation_p.R260I			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	335					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.R335I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAAGAGAAAAGAATTAAATAT	0.363																																					p.R335I		Atlas-SNP	.											POLR2B,NS,carcinoma,0,1	POLR2B	108	1	1	Substitution - Missense(1)	lung(1)	c.G1004T						PASS	.						93	95	94					4																	57871515		2203	4299	6502	SO:0001583	missense	5431	exon8			AGAAAAGAATTAA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1004G>T	4.37:g.57871515G>T	ENSP00000370625:p.Arg335Ile	Somatic	474	0	0		WXS	Illumina HiSeq	Phase_I	326	155	0.47546	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294439	0.95546	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88811	0.6538	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90815	0.4704	10	0.54805	T	0.06	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	260;335	C9J4M6;P30876	.;RPB2_HUMAN	I	335;260;328;335	ENSP00000370625:R335I;ENSP00000391096:R260I;ENSP00000391452:R328I;ENSP00000312735:R335I	ENSP00000312735:R335I	R	+	2	0	POLR2B	57566272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.831000	0.86748	2.890000	0.99128	0.650000	0.86243	AGA	.	.	none		0.363	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		T	57871515	G	T	57871515	3	4	35	1	0	0	0	0	1	0	0	0	12215	942	33	4	1034	4	POLR2B	4	57871515	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	16123636	57871515	133282761	83	23310										
PRDM8	56978	hgsc.bcm.edu	37	chr4	81123614	81123614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgctggtctggtagggggccGgggccgcttcgtagagcggc	20	11	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:81123614G>A	ENST00000504452.1	+	8	1837	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	PRDM8_ENST00000339711.4_Missense_Mutation_p.R333Q|PRDM8_ENST00000415738.2_Missense_Mutation_p.R333Q			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	333	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GTAGGGGGCCGGGGCCGCTTC	0.701																																					p.R333Q		Atlas-SNP	.											.	PRDM8	44	.	0			c.G998A						PASS	.						2	2	2					4																	81123614		1024	2626	3650	SO:0001583	missense	56978	exon4			GGGGCCGGGGCCG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.998G>A	4.37:g.81123614G>A	ENSP00000423985:p.Arg333Gln	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	43	25	0.581395	NM_001099403	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494241	0.26774	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65549	-0.16;0.39;-0.16;-0.16	4.28	3.41	0.39046	.	0.462300	0.18430	N	0.141459	T	0.46580	0.1400	N	0.24115	0.695	0.29957	N	0.819696	B	0.23058	0.079	B	0.12156	0.007	T	0.49523	-0.8931	10	0.59425	D	0.04	.	11.106	0.48203	0.0:0.1879:0.8121:0.0	.	333	Q9NQV8	PRDM8_HUMAN	Q	333	ENSP00000423985:R333Q;ENSP00000425149:R333Q;ENSP00000339764:R333Q;ENSP00000406998:R333Q	ENSP00000339764:R333Q	R	+	2	0	PRDM8	81342638	0.971000	0.33674	0.998000	0.56505	0.274000	0.26718	-0.370000	0.07523	0.967000	0.38186	0.491000	0.48974	CGG	.	.	none		0.701	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			A	81123614	G	A	81123614	3	1	35	1	0	0	0	0	1	0	0	0	12462	1116	39	1	1008	1	PRDM8	4	81123614	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	23252099	81123614	110030662	84	23311										
UNC5C	8633	hgsc.bcm.edu	37	chr4	96222814	96222814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acccgcggagctccaggccaCacactggcaccagtaatctt	9	16	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:96222814C>T	ENST00000453304.1	-	3	781	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	UNC5C_ENST00000504962.1_Missense_Mutation_p.V145M|UNC5C_ENST00000506749.1_Missense_Mutation_p.V145M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	145	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCCAGGCCACACACTGGCAC	0.507																																					p.V145M		Atlas-SNP	.											.	UNC5C	141	.	0			c.G433A						PASS	.						94	79	84					4																	96222814		2203	4300	6503	SO:0001583	missense	8633	exon3			AGGCCACACACTG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.433G>A	4.37:g.96222814C>T	ENSP00000406022:p.Val145Met	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289972	0.95546	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.57	5.57	0.84162	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.99	D;D;D	0.80764	0.971;0.994;0.979	T	0.76119	-0.3076	10	0.87932	D	0	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	145;145;145	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	M	145;104;145;145;145	ENSP00000406022:V145M;ENSP00000426924:V145M;ENSP00000426153:V145M;ENSP00000425117:V145M	ENSP00000328673:V104M	V	-	1	0	UNC5C	96441837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.626000	0.88956	0.650000	0.86243	GTG	.	.	none		0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96222814	C	T	96222814	3	4	35	1	0	0	0	0	1	0	0	0	16990	478	17	2	2418	2	UNC5C	4	96222814	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	15099200	96222814	94931462	85	23312										
SYNPO2	171024	hgsc.bcm.edu	37	chr4	119978995	119978995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggcttcaagaaatgattctgCaatcatgtccatggaaacca	8	9	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:119978995C>T	ENST00000307142.4	+	5	3888	c.3692C>T	c.(3691-3693)gCa>gTa	p.A1231V	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AATGATTCTGCAATCATGTCC	0.423																																					p.A1231V		Atlas-SNP	.											.	SYNPO2	353	.	0			c.C3692T						PASS	.						83	77	79					4																	119978995		2203	4300	6503	SO:0001583	missense	171024	exon5			ATTCTGCAATCAT	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3692C>T	4.37:g.119978995C>T	ENSP00000306015:p.Ala1231Val	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	119	14	0.117647	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349191	0.41599	.	.	ENSG00000172403	ENST00000307142	T	0.08370	3.1	5.76	1.99	0.26369	.	0.491893	0.17073	N	0.188101	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.001;0.002	T	0.46857	-0.9161	9	.	.	.	-3.5532	7.5195	0.27620	0.6482:0.2283:0.1235:0.0	.	1231;1231	B9EG60;Q9UMS6-2	.;.	V	1231	ENSP00000306015:A1231V	.	A	+	2	0	SYNPO2	120198443	0.227000	0.23707	0.001000	0.08648	0.000000	0.00434	2.008000	0.40893	-0.094000	0.12374	-2.788000	0.00116	GCA	.	.	none		0.423	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			T	119978995	C	T	119978995	3	4	35	1	0	0	0	0	1	0	0	0	15454	710	25	2	3822	2	SYNPO2	4	119978995	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	23756181	119978995	71175281	86	23313										
FAT4	79633	hgsc.bcm.edu	37	chr4	126240717	126240717	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttggcatattcccagatggtCaattgtatataaaaagtgaa	8	5	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:126240717C>T	ENST00000394329.3	+	1	3164	c.3151C>T	c.(3151-3153)Caa>Taa	p.Q1051*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1051	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCAGATGGTCAATTGTATAT	0.408																																					p.Q1051X		Atlas-SNP	.											FAT4_ENST00000394329,colon,carcinoma,0,2	FAT4	1752	2	0			c.C3151T						PASS	.						117	110	112					4																	126240717		1863	4101	5964	SO:0001587	stop_gained	79633	exon1			GATGGTCAATTGT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3151C>T	4.37:g.126240717C>T	ENSP00000377862:p.Gln1051*	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	148	23	0.155405	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	42	9.324994	0.99137	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.56	4.56	0.56223	.	0.000000	0.32852	U	0.005574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.5378	0.87837	0.0:1.0:0.0:0.0	.	.	.	.	X	1051	.	ENSP00000377862:Q1051X	Q	+	1	0	FAT4	126460167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.495000	0.81514	2.354000	0.79902	0.462000	0.41574	CAA	.	.	none		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126240717	C	T	126240717	4	4	35	1	0	0	0	0	0	1	0	0	5692	827	29	2	3153	2	FAT4	4	126240717	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6261722	126240717	64913559	87	23314										
TBC1D9	23158	hgsc.bcm.edu	37	chr4	141560570	141560570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcaatcaaatctgcccggaTagttccgaatttctgtaaag	7	9	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:141560570T>G	ENST00000442267.2	-	14	2424	c.2350A>C	c.(2350-2352)Atc>Ctc	p.I784L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	784							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTGCCCGGATAGTTCCGAAT	0.433																																					p.I784L		Atlas-SNP	.											.	TBC1D9	198	.	0			c.A2350C						PASS	.						60	58	59					4																	141560570		1893	4113	6006	SO:0001583	missense	23158	exon14			CCCGGATAGTTCC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2350A>C	4.37:g.141560570T>G	ENSP00000411197:p.Ile784Leu	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	45	0.394737	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641600	0.29157	.	.	ENSG00000109436	ENST00000442267	T	0.08896	3.04	5.12	5.12	0.69794	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.05227	0.0139	N	0.05592	-0.015	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.45145	-0.9281	10	0.20519	T	0.43	-10.5614	15.2296	0.73378	0.0:0.0:0.0:1.0	.	784	Q6ZT07	TBCD9_HUMAN	L	784	ENSP00000411197:I784L	ENSP00000411197:I784L	I	-	1	0	TBC1D9	141780020	1.000000	0.71417	0.964000	0.40570	0.998000	0.95712	7.897000	0.87356	2.052000	0.61016	0.533000	0.62120	ATC	.	.	none		0.433	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		G	141560570	T	G	141560570	3	3	35	1	0	0	0	0	1	0	0	0	15624	1406	49	5	1482	5	TBC1D9	4	141560570	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	15319853	141560570	49593706	88	23315										
FAM198B	51313	hgsc.bcm.edu	37	chr4	159092202	159092202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcgcttggagcgtagggtaAtgtacaccacattgggctgc	14	9	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:159092202A>G	ENST00000296530.8	-	2	947	c.326T>C	c.(325-327)aTt>aCt	p.I109T	FAM198B_ENST00000393807.5_Missense_Mutation_p.I109T|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.I109T|FAM198B_ENST00000585682.1_Missense_Mutation_p.I109T|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	109						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCGTAGGGTAATGTACACCAC	0.622																																					p.I109T		Atlas-SNP	.											.	FAM198B	134	.	0			c.T326C						PASS	.						80	78	79					4																	159092202		2203	4300	6503	SO:0001583	missense	51313	exon2			AGGGTAATGTACA		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.326T>C	4.37:g.159092202A>G	ENSP00000296530:p.Ile109Thr	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	60	23	0.383333	NM_016613	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.223908	0.79576	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.47869	0.88;0.83	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70876	-0.4753	10	0.87932	D	0	-4.8854	15.0035	0.71492	1.0:0.0:0.0:0.0	.	109;109;109	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	T	109	ENSP00000296530:I109T;ENSP00000377396:I109T	ENSP00000296530:I109T	I	-	2	0	FAM198B	159311652	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.113000	0.89568	2.140000	0.66376	0.533000	0.62120	ATT	.	.	none		0.622	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		G	159092202	A	G	159092202	3	3	35	1	0	0	0	0	1	0	0	0	5529	101	4	2	1354	2	FAM198B	4	159092202	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	17531632	159092202	32062074	89	23316										
FAT1	2195	hgsc.bcm.edu	37	chr4	187524408	187524408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtgctgtgtgttgacatcaCactttcatccacagacacct	7	12	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:187524408C>T	ENST00000441802.2	-	19	11481	c.11272G>A	c.(11272-11274)Gtg>Atg	p.V3758M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3758					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGACATCACACTTTCATCC	0.502										HNSCC(5;0.00058)																											p.V3758M	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.G11272A						PASS	.						69	66	67					4																	187524408		2030	4189	6219	SO:0001583	missense	2195	exon19			ACATCACACTTTC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11272G>A	4.37:g.187524408C>T	ENSP00000406229:p.Val3758Met	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	151	66	0.437086	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822774	0.32237	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.30182	1.54	3.98	3.11	0.35812	.	0.268968	0.35805	N	0.002973	T	0.27349	0.0671	L	0.46157	1.445	0.28142	N	0.929741	P	0.36354	0.549	B	0.38880	0.284	T	0.11567	-1.0582	10	0.42905	T	0.14	.	9.5639	0.39387	0.0:0.8051:0.0:0.1949	.	3758	Q14517	FAT1_HUMAN	M	3758;3760	ENSP00000406229:V3758M	ENSP00000260147:V3760M	V	-	1	0	FAT1	187761402	0.035000	0.19736	0.009000	0.14445	0.913000	0.54294	0.593000	0.23999	0.992000	0.38840	0.557000	0.71058	GTG	.	.	none		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187524408	C	T	187524408	3	4	35	1	0	0	0	0	1	0	0	0	5689	478	17	2	2530	2	FAT1	4	187524408	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	28432206	187524408	3629868	90	23317										
FAT1	2195	hgsc.bcm.edu	37	chr4	187542336	187542336	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tacaagcaaagcatttgagtCtttatcagcatcagctgctc	7	10	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr4:187542336C>G	ENST00000441802.2	-	10	5613	c.5404G>C	c.(5404-5406)Gac>Cac	p.D1802H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1802	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCATTTGAGTCTTTATCAGCA	0.398										HNSCC(5;0.00058)																											p.D1802H	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.G5404C						PASS	.						87	83	84					4																	187542336		1963	4160	6123	SO:0001583	missense	2195	exon10			TTGAGTCTTTATC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5404G>C	4.37:g.187542336C>G	ENSP00000406229:p.Asp1802His	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	108	18	0.166667	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173534	0.21704	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.145249	0.64402	D	0.000010	T	0.46560	0.1399	L	0.42529	1.33	0.58432	D	0.999999	B	0.17667	0.023	B	0.21708	0.036	T	0.37430	-0.9706	10	0.62326	D	0.03	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1802	Q14517	FAT1_HUMAN	H	1802;1804	ENSP00000406229:D1802H	ENSP00000260147:D1804H	D	-	1	0	FAT1	187779330	1.000000	0.71417	0.693000	0.30195	0.030000	0.12068	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	GAC	.	.	none		0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187542336	C	G	187542336	3	3	35	1	0	0	0	0	1	0	0	0	5689	913	32	4	8434	4	FAT1	4	187542336	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	17928	187542336	3611940	91	23318										
CTNND2	1501	hgsc.bcm.edu	37	chr5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	catagggggcttctgatagaCgcggtcttcatagatgggat	14	7	3	3	rs148824970	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617																																					p.V428I		Atlas-SNP	.											CTNND2,NS,carcinoma,0,1	CTNND2	289	1	1	Substitution - Missense(1)	lung(1)	c.G1282A						PASS	.	C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	50	54	53		1282	4.6	1	5	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CTNND2	NM_001332.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	428/1226	11364898	4,13002	2203	4300	6503	SO:0001583	missense	1501	exon8			GATAGACGCGGTC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1282G>A	5.37:g.11364898C>T	ENSP00000307134:p.Val428Ile	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	77	26	0.337662	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977602	0.92982	6.81E-4	1.16E-4	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.78707	-1.08;-1.15;-1.09;-1.2	5.47	4.6	0.57074	.	0.086833	0.45361	N	0.000371	D	0.84129	0.5404	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72982	0.959;0.979	D	0.85369	0.1112	10	0.66056	D	0.02	-16.9562	13.9713	0.64242	0.0:0.9272:0.0:0.0728	.	91;428	B4DRK2;Q9UQB3	.;CTND2_HUMAN	I	428;428;337;91;168	ENSP00000307134:V428I;ENSP00000352661:V428I;ENSP00000426510:V337I;ENSP00000426887:V91I	ENSP00000307134:V428I	V	-	1	0	CTNND2	11417898	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.748000	0.68697	1.313000	0.45069	0.655000	0.94253	GTC	C|0.999;T|0.001	0.001	strong		0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11364898	C	T	11364898	3	4	35	1	0	0	0	0	1	0	0	0	4020	536	19	1	2455	1	CTNND2	5	11364898	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		11364898	169550362	92	23319										
TRIO	7204	hgsc.bcm.edu	37	chr5	14397228	14397228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gatgctcagcgtgccgaagcGagccaatgatgccatgcacc	12	13	1	1	rs373502206		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:14397228G>A	ENST00000344204.4	+	29	4412	c.4388G>A	c.(4387-4389)cGa>cAa	p.R1463Q	TRIO_ENST00000537187.1_Missense_Mutation_p.R1463Q|TRIO_ENST00000509967.2_Missense_Mutation_p.R1414Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1463	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGCCGAAGCGAGCCAATGAT	0.493																																					p.R1463Q		Atlas-SNP	.											.	TRIO	305	.	0			c.G4388A						PASS	.	G	GLN/ARG	0,4406		0,0,2203	97	87	91		4388	5.7	1	5		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	TRIO	NM_007118.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1463/3098	14397228	1,13003	2203	4299	6502	SO:0001583	missense	7204	exon29			CGAAGCGAGCCAA	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4388G>A	5.37:g.14397228G>A	ENSP00000339299:p.Arg1463Gln	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	118	11	0.0932203	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409928	0.83340	0.0	1.16E-4	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.61980	0.06;0.06;0.06	5.65	5.65	0.86999	Dbl homology (DH) domain (5);	0.058548	0.64402	D	0.000002	T	0.65954	0.2741	L	0.48260	1.515	0.58432	D	0.999997	P;D;D	0.64830	0.931;0.979;0.994	P;B;P	0.48571	0.485;0.34;0.582	T	0.67906	-0.5549	10	0.59425	D	0.04	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1414;1463;1463	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	1463;1463;1414;1150	ENSP00000339299:R1463Q;ENSP00000446348:R1463Q;ENSP00000445592:R1414Q	ENSP00000339299:R1463Q	R	+	2	0	TRIO	14450228	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.018000	0.57174	2.824000	0.97209	0.655000	0.94253	CGA	.	.	weak		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14397228	G	A	14397228	3	1	35	1	0	0	0	0	1	0	0	0	16549	1058	37	1	4502	1	TRIO	5	14397228	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3032330	14397228	166518032	93	23320										
OXCT1	5019	hgsc.bcm.edu	37	chr5	41870421	41870421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agatccgcgggcagaggcgcAgagccgaagcccggaggaga	18	11	0	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:41870421A>G	ENST00000196371.5	-	1	200	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	14					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCAGAGGCGCAGAGCCGAAGC	0.652																																					p.C14R		Atlas-SNP	.											.	OXCT1	54	.	0			c.T40C						PASS	.						58	53	54					5																	41870421		2203	4300	6503	SO:0001583	missense	5019	exon1			AGGCGCAGAGCCG	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.40T>C	5.37:g.41870421A>G	ENSP00000196371:p.Cys14Arg	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	21	0.247059	NM_000436	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447431	0.43429	.	.	ENSG00000083720	ENST00000196371	D	0.84298	-1.83	4.71	-1.41	0.08941	.	0.617047	0.17164	N	0.184532	T	0.61173	0.2326	N	0.08118	0	0.39676	D	0.970823	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	10	0.23302	T	0.38	2.3307	1.5265	0.02526	0.411:0.3174:0.0974:0.1742	.	14	P55809	SCOT1_HUMAN	R	14	ENSP00000196371:C14R	ENSP00000196371:C14R	C	-	1	0	OXCT1	41906178	0.941000	0.31946	0.426000	0.26672	0.821000	0.46438	0.003000	0.13083	-0.023000	0.13963	0.533000	0.62120	TGC	.	.	none		0.652	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		G	41870421	A	G	41870421	3	3	35	1	0	0	0	0	1	0	0	0	11329	188	7	3	1590	3	OXCT1	5	41870421	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	27473193	41870421	139044839	94	23321										
HCN1	348980	hgsc.bcm.edu	37	chr5	45262330	45262330	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	catggggcagcgagggctgcGaggcggagagtggcctgact	20	9	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:45262330G>C	ENST00000303230.4	-	8	2423	c.2366C>G	c.(2365-2367)tCg>tGg	p.S789W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	789				S -> W (in Ref. 2; AAC39759). {ECO:0000305}.	apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S789L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGAGGGCTGCGAGGCGGAGAG	0.627																																					p.S789W		Atlas-SNP	.											HCN1,NS,carcinoma,0,2	HCN1	298	2	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C2366G						PASS	.						64	61	62					5																	45262330		2203	4300	6503	SO:0001583	missense	348980	exon8			GGCTGCGAGGCGG	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2366C>G	5.37:g.45262330G>C	ENSP00000307342:p.Ser789Trp	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	88	28	0.318182	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431846	0.62844	.	.	ENSG00000164588	ENST00000303230	T	0.77620	-1.11	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000034	D	0.82898	0.5137	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.84674	0.0713	10	0.62326	D	0.03	.	18.7131	0.91666	0.0:0.0:1.0:0.0	.	789	O60741	HCN1_HUMAN	W	789	ENSP00000307342:S789W	ENSP00000307342:S789W	S	-	2	0	HCN1	45298087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.689000	0.98673	2.491000	0.84063	0.655000	0.94253	TCG	.	.	none		0.627	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		C	45262330	G	C	45262330	3	2	35	1	0	0	0	0	1	0	0	0	6996	1059	37	4	310	4	HCN1	5	45262330	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3391909	45262330	135652930	95	23322										
ITGA2	3673	hgsc.bcm.edu	37	chr5	52347391	52347391	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagcaattcaatatgcaaggTaagttttggtgctaataggc	11	5	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:52347391T>A	ENST00000296585.5	+	7	922		c.e7+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATATGCAAGGTAAGTTTTGGT	0.313																																					.		Atlas-SNP	.											.	ITGA2	211	.	0			c.779+2T>A						PASS	.						98	95	96					5																	52347391		2203	4300	6503	SO:0001630	splice_region_variant	3673	exon7			GCAAGGTAAGTTT		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.779+2T>A	5.37:g.52347391T>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	154	18	0.116883	NM_002203	Q14595	Splice_Site	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482598	0.84747	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0828	0.81017	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA2	52383148	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	7.642000	0.83385	2.199000	0.70637	0.528000	0.53228	.	.	.	none		0.313	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	Intron	A	52347391	T	A	52347391	5	1	35	1	0	0	0	0	0	0	1	0	7875	1652	57	5	807	5	ITGA2	5	52347391	Splice_Site	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	7085061	52347391	128567869	96	23323										
ERBB2IP	55914	hgsc.bcm.edu	37	chr5	65374285	65374285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttttataaatattgaacatgGacaagcagtgtccttgctaa	7	6	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:65374285G>A	ENST00000284037.5	+	26	4555	c.4166G>A	c.(4165-4167)gGa>gAa	p.G1389E	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.G1279E|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.G1344E|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.G587E|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.G1279E|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.G1337E|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.G1323E|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.G1396E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.G1348E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.G1317E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1389	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTGAACATGGACAAGCAGTG	0.348																																					p.G1396E		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.G4187A						PASS	.						66	68	67					5																	65374285		2203	4300	6503	SO:0001583	missense	55914	exon26			AACATGGACAAGC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.4166G>A	5.37:g.65374285G>A	ENSP00000284037:p.Gly1389Glu	Somatic	341	1	0.00293255		WXS	Illumina HiSeq	Phase_I	376	162	0.430851	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	6.208	0.406620	0.11754	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.35605	2.0;2.0;2.0;2.0;2.0;2.0;1.3;2.0;2.0;2.0	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.131866	0.49916	D	0.000133	T	0.28067	0.0692	N	0.01522	-0.82	0.25967	N	0.982556	P;D;D;D;D;D;D;D	0.89917	0.78;0.997;0.998;0.996;1.0;0.993;0.992;1.0	P;D;D;D;D;D;P;D	0.97110	0.533;0.951;0.971;0.971;1.0;0.939;0.9;1.0	T	0.35351	-0.9792	10	0.02654	T	1	.	15.2084	0.73198	0.0:0.1401:0.8599:0.0	.	587;1323;1396;1396;1344;1389;1279;1348	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	E	1389;1348;587;1337;1317;1279;1323;1344;1396;1279	ENSP00000284037:G1389E;ENSP00000370330:G1348E;ENSP00000397833:G587E;ENSP00000370326:G1337E;ENSP00000370323:G1317E;ENSP00000370322:G1279E;ENSP00000370325:G1323E;ENSP00000422766:G1344E;ENSP00000426632:G1396E;ENSP00000422015:G1279E	ENSP00000284037:G1389E	G	+	2	0	ERBB2IP	65410041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.464000	0.66719	2.650000	0.89964	0.655000	0.94253	GGA	.	.	none		0.348	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		A	65374285	G	A	65374285	3	1	35	1	0	0	0	0	1	0	0	0	5207	1174	41	2	4133	2	ERBB2IP	5	65374285	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	13026894	65374285	115540975	97	23324										
MAST4	375449	hgsc.bcm.edu	37	chr5	66462503	66462503	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggagcttccagcccccagcaAcagggaccataggaaggctc	12	14	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:66462503A>T	ENST00000403625.2	+	29	7791	c.7496A>T	c.(7495-7497)aAc>aTc	p.N2499I	MAST4_ENST00000405643.1_Missense_Mutation_p.N2320I|MAST4_ENST00000261569.7_Missense_Mutation_p.N2305I|MAST4_ENST00000403666.1_Missense_Mutation_p.N2310I|MAST4_ENST00000404260.3_Missense_Mutation_p.N2502I	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2502						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCCCCAGCAACAGGGACCAT	0.657											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N2499I		Atlas-SNP	.											.	MAST4	218	.	0			c.A7496T						PASS	.						17	24	22					5																	66462503		1957	4169	6126	SO:0001583	missense	375449	exon29			CCAGCAACAGGGA	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7496A>T	5.37:g.66462503A>T	ENSP00000385727:p.Asn2499Ile	Somatic	108	0	0	1092	WXS	Illumina HiSeq	Phase_I	128	31	0.242188	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.708585|2.708585	0.48517|0.48517	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.64260|.	-0.06;-0.06;-0.09;-0.08;-0.06|.	4.64|4.64	-8.76|-8.76	0.00830|0.00830	.|.	1.480450|.	0.03942|.	N|.	0.287123|.	T|T	0.25005|0.25005	0.0607|0.0607	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.26483|.	0.092;0.15|.	B;B|.	0.26614|.	0.032;0.071|.	T|T	0.34054|0.34054	-0.9844|-0.9844	10|5	0.36615|.	T|.	0.2|.	-1.2165|-1.2165	11.4774|11.4774	0.50306|0.50306	0.1289:0.3279:0.5432:0.0|0.1289:0.3279:0.5432:0.0	.|.	2502;2310|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	I|H	2502;2499;2310;2320;2320;2305|1555	ENSP00000385048:N2502I;ENSP00000385727:N2499I;ENSP00000384313:N2310I;ENSP00000384099:N2320I;ENSP00000261569:N2305I|.	ENSP00000261569:N2305I|.	N|Q	+|+	2|3	0|2	MAST4|MAST4	66498259|66498259	0.000000|0.000000	0.05858|0.05858	0.138000|0.138000	0.22173|0.22173	0.228000|0.228000	0.25075|0.25075	-1.297000|-1.297000	0.02759|0.02759	-1.305000|-1.305000	0.02327|0.02327	0.379000|0.379000	0.24179|0.24179	AAC|CAA	.	.	none		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66462503	A	T	66462503	3	4	35	1	0	0	0	0	1	0	0	0	9327	43	2	5	7740	5	MAST4	5	66462503	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1088218	66462503	114452757	98	23325										
PAPD4	167153	hgsc.bcm.edu	37	chr5	78915498	78915498	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccaaactcaattttgggtcgCccacccttcactccaaatca	4	16	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:78915498C>A	ENST00000296783.3	+	3	326	c.27C>A	c.(25-27)cgC>cgA	p.R9R	PAPD4_ENST00000453514.1_Silent_p.R9R|PAPD4_ENST00000428308.2_Silent_p.R9R|PAPD4_ENST00000423041.2_Silent_p.R9R|PAPD4_ENST00000504233.1_Silent_p.R9R			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	9				R -> H (in Ref. 1; BAC04629). {ECO:0000305}.	hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTTTGGGTCGCCCACCCTTCA	0.358																																					p.R9R		Atlas-SNP	.											.	PAPD4	51	.	0			c.C27A						PASS	.						104	101	102					5																	78915498		2203	4300	6503	SO:0001819	synonymous_variant	167153	exon3			GGGTCGCCCACCC	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.27C>A	5.37:g.78915498C>A		Somatic	354	0	0		WXS	Illumina HiSeq	Phase_I	413	169	0.409201	NM_173797	Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	37	CCDS4048.1																																																																																			.	.	none		0.358	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		A	78915498	C	A	78915498	2	1	35	1	0	0	0	0	0	0	0	1	11424	726	26	4		4	PAPD4	5	78915498	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12452995	78915498	101999762	99	23326										
CMYA5	202333	hgsc.bcm.edu	37	chr5	79028813	79028813	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cactggtaacatctgcagatGaacattcagttcttgcagaa	8	9	3	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:79028813G>T	ENST00000446378.2	+	2	4256	c.4225G>T	c.(4225-4227)Gaa>Taa	p.E1409*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1409					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCTGCAGATGAACATTCAGT	0.418																																					p.E1409X		Atlas-SNP	.											CMYA5_ENST00000446378,colon,carcinoma,-1,2	CMYA5	643	2	0			c.G4225T						PASS	.						34	34	34					5																	79028813		1884	4105	5989	SO:0001587	stop_gained	202333	exon2			GCAGATGAACATT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4225G>T	5.37:g.79028813G>T	ENSP00000394770:p.Glu1409*	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	141	20	0.141844	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	39	7.514731	0.98332	.	.	ENSG00000164309	ENST00000446378	.	.	.	6.08	3.18	0.36537	.	0.675838	0.12870	N	0.432326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.2941	0.15743	0.1919:0.165:0.6431:0.0	.	.	.	.	X	1409	.	ENSP00000394770:E1409X	E	+	1	0	CMYA5	79064569	0.126000	0.22350	0.005000	0.12908	0.228000	0.25075	1.662000	0.37418	0.364000	0.24374	0.650000	0.86243	GAA	.	.	none		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79028813	G	T	79028813	4	4	35	1	0	0	0	0	0	1	0	0	3590	1291	45	4	4231	4	CMYA5	5	79028813	Nonsense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	113315	79028813	101886447	100	23327										
CCNH	902	hgsc.bcm.edu	37	chr5	86708576	86708576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agctgctcctcgctggagaaGgtccagtgccgcttctgact	12	13	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:86708576G>A	ENST00000256897.4	-	1	260	c.36C>T	c.(34-36)acC>acT	p.T12T	CCNH_ENST00000508855.1_5'Flank|CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	12					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CGCTGGAGAAGGTCCAGTGCC	0.577								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.T12T		Atlas-SNP	.											.	CCNH	40	.	0			c.C36T						PASS	.						96	74	82					5																	86708576		2203	4300	6503	SO:0001819	synonymous_variant	902	exon1			GGAGAAGGTCCAG	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.36C>T	5.37:g.86708576G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	64	26	0.40625	NM_001239	Q53X72|Q8TBL9	Silent	SNP	ENST00000256897.4	37	CCDS4064.1																																																																																			.	.	none		0.577	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		A	86708576	G	A	86708576	2	1	35	1	0	0	0	0	0	0	0	1	2925	987	35	2		2	CCNH	5	86708576	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	7679763	86708576	94206684	101	23328										
LOX	4015	hgsc.bcm.edu	37	chr5	121412595	121412595	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tatcagcccgtacctggccaGacagttttcctccgccgcgc	9	17	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:121412595G>C	ENST00000231004.4	-	2	1032	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	LOX_ENST00000513319.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	245	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TACCTGGCCAGACAGTTTTCC	0.612											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L245V		Atlas-SNP	.											LOX,NS,carcinoma,+1,1	LOX	29	1	0			c.C733G						PASS	.						108	104	105					5																	121412595		2203	4300	6503	SO:0001583	missense	4015	exon2			TGGCCAGACAGTT		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.733C>G	5.37:g.121412595G>C	ENSP00000231004:p.Leu245Val	Somatic	24	0	0	1511	WXS	Illumina HiSeq	Phase_I	44	5	0.113636	NM_002317	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804101	0.50315	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.43688	0.94	5.45	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.58583	1.82	0.43724	D	0.996202	D	0.56287	0.975	D	0.67382	0.951	T	0.52563	-0.8559	10	0.87932	D	0	.	6.351	0.21375	0.5873:0.0:0.4127:0.0	.	245	P28300	LYOX_HUMAN	V	245;205	ENSP00000231004:L245V	ENSP00000231004:L245V	L	-	1	2	LOX	121440494	0.996000	0.38824	0.986000	0.45419	0.951000	0.60555	1.336000	0.33850	0.554000	0.29061	0.555000	0.69702	CTG	.	.	none		0.612	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			C	121412595	G	C	121412595	3	2	35	1	0	0	0	0	1	0	0	0	8898	933	33	4	544	4	LOX	5	121412595	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	34704019	121412595	59502665	102	23329										
CSNK1G3	1456	hgsc.bcm.edu	37	chr5	122881389	122881389	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaagaaagacaaggacaaatCagatgatagaatggcacgac	10	6	1	5			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:122881389C>G	ENST00000361991.2	+	1	62	c.32C>G	c.(31-33)tCa>tGa	p.S11*	CSNK1G3_ENST00000360683.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000510842.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000521364.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395412.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395411.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000345990.4_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000511130.2_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	11					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGGACAAATCAGATGATAGA	0.408																																					p.S11X	Pancreas(187;2868 2964 4353 6297)	Atlas-SNP	.											CSNK1G3,bladder,carcinoma,0,1	CSNK1G3	42	1	0			c.C32G						PASS	.						120	102	108					5																	122881389		2203	4300	6503	SO:0001587	stop_gained	1456	exon1			ACAAATCAGATGA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.32C>G	5.37:g.122881389C>G	ENSP00000354942:p.Ser11*	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	184	30	0.163043	NM_001270572	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Nonsense_Mutation	SNP	ENST00000361991.2	37	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255040	0.97417	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	.	.	.	5.2	4.32	0.51571	.	2.335320	0.01492	N	0.017111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	13.6746	0.62447	0.0:0.9229:0.0:0.0771	.	.	.	.	X	11	.	ENSP00000334735:S11X	S	+	2	0	CSNK1G3	122909288	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.943000	0.49026	2.805000	0.96524	0.655000	0.94253	TCA	.	.	none		0.408	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		G	122881389	C	G	122881389	4	3	35	1	0	0	0	0	0	1	0	0	3956	838	29	4	34	4	CSNK1G3	5	122881389	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1468794	122881389	58033871	103	23330										
PCBD2	84105	hgsc.bcm.edu	37	chr5	134296332	134296332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgaccaaaaaagatgtgaaGctggccaagtttattgaaaa	9	6	0	4	rs144454290		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:134296332G>A	ENST00000512783.1	+	4	374	c.354G>A	c.(352-354)aaG>aaA	p.K118K	PCBD2_ENST00000254908.6_Silent_p.K118K			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	118					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGATGTGAAGCTGGCCAAGT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		19140	0.0		0.001	False		,,,				2504	0.0				p.K118K		Atlas-SNP	.											.	PCBD2	3	.	0			c.G354A						PASS	.	G		0,3672		0,0,1836	81	74	76		354	-4.9	0.7	5	dbSNP_134	76	2,8194		0,2,4096	no	coding-synonymous	PCBD2	NM_032151.4		0,2,5932	AA,AG,GG		0.0244,0.0,0.0169		118/131	134296332	2,11866	1836	4098	5934	SO:0001819	synonymous_variant	84105	exon4			TGTGAAGCTGGCC	AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.354G>A	5.37:g.134296332G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	219	10	0.0456621	NM_032151	Q8TD40	Silent	SNP	ENST00000512783.1	37	CCDS43364.1																																																																																			G|1.000;A|0.000	0.000	strong		0.373	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371578.1	NM_032151		A	134296332	G	A	134296332	2	1	35	1	0	0	0	0	0	0	0	1	11499	962	34	2		2	PCBD2	5	134296332	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	11414943	134296332	46618928	104	23331										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140186916	140186916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggcaccttcgtgggccgcatCgcgcaggacctgggactgga	16	13	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:140186916C>T	ENST00000530339.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA4_ENST00000356878.4_Silent_p.I48I|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.I48I|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.652																																					p.I48I		Atlas-SNP	.											.	PCDHA4	419	.	0			c.C144T						PASS	.						54	61	58					5																	140186916		2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			CCGCATCGCGCAG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.144C>T	5.37:g.140186916C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	117	41	0.350427	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.	.	none		0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140186916	C	T	140186916	2	4	35	1	0	0	0	0	0	0	0	1	11526	874	31	1		1	PCDHA4	5	140186916	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5890584	140186916	40728344	105	23332										
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140201800	140201800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cattttagagtcaagaatgcCagattcgcggtttccgctag	10	9	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:140201800C>T	ENST00000529859.1	+	1	440	c.440C>T	c.(439-441)cCa>cTa	p.P147L	PCDHA5_ENST00000529619.1_Missense_Mutation_p.P147L|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P147L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	147					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGAATGCCAGATTCGCGG	0.433																																					p.P147L		Atlas-SNP	.											.	PCDHA5	361	.	0			c.C440T						PASS	.						50	55	54					5																	140201800		2203	4300	6503	SO:0001583	missense	56143	exon1			GAATGCCAGATTC	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.440C>T	5.37:g.140201800C>T	ENSP00000436557:p.Pro147Leu	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	149	38	0.255034	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	1.960	-0.439103	0.04636	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.21031	2.03;2.03;2.03	4.02	-0.26	0.12967	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.14098	0.0341	L	0.35644	1.08	0.09310	N	1	B;B;B	0.16603	0.012;0.01;0.018	B;B;B	0.32289	0.143;0.008;0.008	T	0.44329	-0.9335	9	0.07813	T	0.8	.	5.1007	0.14759	0.1425:0.6129:0.0:0.2446	.	147;147;147	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	147	ENSP00000433416:P147L;ENSP00000436557:P147L;ENSP00000367366:P147L	ENSP00000367366:P147L	P	+	2	0	PCDHA5	140181984	0.000000	0.05858	0.826000	0.32828	0.990000	0.78478	-1.759000	0.01808	0.004000	0.14682	0.591000	0.81541	CCA	.	.	none		0.433	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140201800	C	T	140201800	3	4	35	1	0	0	0	0	1	0	0	0	11527	594	21	2	442	2	PCDHA5	5	140201800	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	14884	140201800	40713460	106	23333										
SH3RF2	153769	hgsc.bcm.edu	37	chr5	145428733	145428733	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cctggggaagtgccaggacgGctggctcaggggcgtctcct	17	12	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:145428733G>C	ENST00000511217.1	+	6	1299	c.1247G>C	c.(1246-1248)gGc>gCc	p.G416A	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G416A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	416	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCAGGACGGCTGGCTCAGG	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G416A		Atlas-SNP	.											.	SH3RF2	58	.	0			c.G1247C						PASS	.						65	66	65					5																	145428733		2203	4300	6503	SO:0001583	missense	153769	exon7			AGGACGGCTGGCT	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1247G>C	5.37:g.145428733G>C	ENSP00000424497:p.Gly416Ala	Somatic	101	0	0	1694	WXS	Illumina HiSeq	Phase_I	101	23	0.227723	NM_152550	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309463	0.81247	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	Src homology-3 domain (4);	0.070489	0.64402	D	0.000018	T	0.58047	0.2095	M	0.91300	3.195	0.80722	D	1	P	0.36753	0.568	B	0.38225	0.268	T	0.68330	-0.5437	10	0.87932	D	0	-25.1307	18.1751	0.89759	0.0:0.0:1.0:0.0	.	416	Q8TEC5	SH3R2_HUMAN	A	416	ENSP00000352028:G416A;ENSP00000424497:G416A	ENSP00000352028:G416A	G	+	2	0	SH3RF2	145408926	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.687000	0.98667	2.587000	0.87381	0.484000	0.47621	GGC	.	.	none		0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		C	145428733	G	C	145428733	3	2	35	1	0	0	0	0	1	0	0	0	14259	1203	42	4	1269	4	SH3RF2	5	145428733	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	5226933	145428733	35486527	107	23334										
ATP10B	23120	hgsc.bcm.edu	37	chr5	160071166	160071166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcatagatgacaatgccaaCagccatctcggtgtttctga	9	10	2	3	rs369830205		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:160071166C>T	ENST00000327245.5	-	9	1693	c.847G>A	c.(847-849)Gtt>Att	p.V283I		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	283					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAATGCCAACAGCCATCTCG	0.488																																					p.V283I		Atlas-SNP	.											.	ATP10B	201	.	0			c.G847A						PASS	.						129	131	131					5																	160071166		2003	4177	6180	SO:0001583	missense	23120	exon9			TGCCAACAGCCAT	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.847G>A	5.37:g.160071166C>T	ENSP00000313600:p.Val283Ile	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	77	33	0.428571	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046598	0.36085	.	.	ENSG00000118322	ENST00000327245	T	0.72942	-0.7	4.9	2.14	0.27477	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.319926	0.29348	N	0.012417	T	0.47303	0.1438	N	0.11870	0.19	0.09310	N	1	B;B;B;B	0.31227	0.02;0.002;0.314;0.014	B;B;B;B	0.29077	0.044;0.012;0.098;0.028	T	0.28808	-1.0032	9	.	.	.	.	9.5577	0.39348	0.0:0.6982:0.0:0.3018	.	327;283;255;283	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	I	283	ENSP00000313600:V283I	.	V	-	1	0	ATP10B	160003744	0.000000	0.05858	0.723000	0.30687	0.996000	0.88848	-0.043000	0.12043	0.132000	0.18615	0.563000	0.77884	GTT	.	.	alt		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160071166	C	T	160071166	3	4	35	1	0	0	0	0	1	0	0	0	1117	478	17	2	3610	2	ATP10B	5	160071166	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	14642433	160071166	20844094	108	23335										
CPEB4	80315	hgsc.bcm.edu	37	chr5	173317237	173317237	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcgcatcgtctcttactggTttcagtaactggtcagcagc	10	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:173317237T>C	ENST00000265085.5	+	1	1955	c.501T>C	c.(499-501)ggT>ggC	p.G167G	CPEB4_ENST00000519835.1_Silent_p.G167G|CPEB4_ENST00000334035.5_Silent_p.G167G|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Silent_p.G167G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	167					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTCTTACTGGTTTCAGTAACT	0.493																																					p.G167G		Atlas-SNP	.											CPEB4,NS,carcinoma,+2,1	CPEB4	54	1	0			c.T501C						scavenged	.						89	93	92					5																	173317237		2203	4300	6503	SO:0001819	synonymous_variant	80315	exon1			TACTGGTTTCAGT	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.501T>C	5.37:g.173317237T>C		Somatic	129	1	0.00775194		WXS	Illumina HiSeq	Phase_I	153	36	0.235294	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	CCDS4390.1																																																																																			.	.	none		0.493	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		C	173317237	T	C	173317237	2	2	35	1	0	0	0	0	0	0	0	1	3803	1712	60	2		2	CPEB4	5	173317237	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	13246071	173317237	7598023	109	23336										
CPEB4	80315	hgsc.bcm.edu	37	chr5	173317293	173317293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctctacaataatcaatgaagAtgcaagtttctttcaccagg	6	9	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:173317293A>C	ENST00000265085.5	+	1	2011	c.557A>C	c.(556-558)gAt>gCt	p.D186A	CPEB4_ENST00000519835.1_Missense_Mutation_p.D186A|CPEB4_ENST00000334035.5_Missense_Mutation_p.D186A|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.D186A	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	186					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCAATGAAGATGCAAGTTTC	0.488																																					p.D186A		Atlas-SNP	.											.	CPEB4	54	.	0			c.A557C						PASS	.						70	75	73					5																	173317293		2203	4300	6503	SO:0001583	missense	80315	exon1			ATGAAGATGCAAG	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.557A>C	5.37:g.173317293A>C	ENSP00000265085:p.Asp186Ala	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	189	40	0.21164	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851834	0.51270	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.29908	0.895	0.80722	D	1	P;P;B;P	0.52316	0.884;0.93;0.413;0.952	B;P;B;P	0.47827	0.355;0.558;0.214;0.449	T	0.38714	-0.9648	10	0.72032	D	0.01	-20.7982	16.1839	0.81934	1.0:0.0:0.0:0.0	.	186;186;186;186	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	A	186	ENSP00000265085:D186A;ENSP00000429092:D186A;ENSP00000334533:D186A;ENSP00000429048:D186A	ENSP00000265085:D186A	D	+	2	0	CPEB4	173249899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.222000	0.72286	0.533000	0.62120	GAT	.	.	none		0.488	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		C	173317293	A	C	173317293	3	2	35	1	0	0	0	0	1	0	0	0	3803	333	12	5	559	5	CPEB4	5	173317293	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	56	173317293	7597967	110	23337										
FGFR4	2264	hgsc.bcm.edu	37	chr5	176516652	176516652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcctgctgagtgtgcctgggCctccagtcttgtccctggag	13	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:176516652C>T	ENST00000292408.4	+	2	294	c.49C>T	c.(49-51)Cct>Tct	p.P17S	FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393637.1_Missense_Mutation_p.P17S|FGFR4_ENST00000502906.1_Missense_Mutation_p.P17S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P17S|FGFR4_ENST00000292410.3_Missense_Mutation_p.P17S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	17					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TGTGCCTGGGCCTCCAGTCTT	0.632										TSP Lung(9;0.080)																											p.P17S		Atlas-SNP	.											.	FGFR4	174	.	0			c.C49T						PASS	.						62	57	58					5																	176516652		2203	4300	6503	SO:0001583	missense	2264	exon1			CCTGGGCCTCCAG	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.49C>T	5.37:g.176516652C>T	ENSP00000292408:p.Pro17Ser	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	159	76	0.477987	NM_022963	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.210794	0.01555	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000514472;ENST00000502906;ENST00000292410;ENST00000510911;ENST00000513166;ENST00000393637	T;T;T;D;T;T;T;D;T	0.87966	-1.06;-0.77;-1.02;-2.32;-1.06;-1.07;1.04;-2.25;-1.07	4.26	-0.824	0.10812	.	.	.	.	.	T	0.70954	0.3283	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.57033	-0.7880	9	0.42905	T	0.14	.	1.7718	0.03013	0.1123:0.1673:0.312:0.4083	.	17;17;17;17;17	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	S	17	ENSP00000292408:P17S;ENSP00000424905:P17S;ENSP00000377259:P17S;ENSP00000426492:P17S;ENSP00000424960:P17S;ENSP00000292410:P17S;ENSP00000427222:P17S;ENSP00000422889:P17S;ENSP00000377254:P17S	ENSP00000292408:P17S	P	+	1	0	FGFR4	176449258	0.462000	0.25791	0.417000	0.26559	0.235000	0.25334	0.500000	0.22562	0.049000	0.15920	-0.479000	0.04858	CCT	.	.	none		0.632	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			T	176516652	C	T	176516652	3	4	35	1	0	0	0	0	1	0	0	0	5868	739	26	2	51	2	FGFR4	5	176516652	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3199359	176516652	4398608	111	23338										
LMAN2	10960	hgsc.bcm.edu	37	chr5	176778602	176778602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaagcccaggccttcccaggCaccgccggccccagccccaa	10	21	0	0	rs143985896	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:176778602C>T	ENST00000303127.7	-	1	251	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	LMAN2_ENST00000515209.1_Missense_Mutation_p.C16Y|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	16					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTTCCCAGGCACCGCCGGCC	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15298	0.0		0.0	False		,,,				2504	0.0				p.C16Y		Atlas-SNP	.											.	LMAN2	35	.	0			c.G47A						PASS	.	C	TYR/CYS	10,4396	15.5+/-35.6	0,10,2193	22	28	26		47	3.4	1	5	dbSNP_134	26	0,8600		0,0,4300	yes	missense	LMAN2	NM_006816.2	194	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	16/357	176778602	10,12996	2203	4300	6503	SO:0001583	missense	10960	exon1			CCCAGGCACCGCC	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.47G>A	5.37:g.176778602C>T	ENSP00000303366:p.Cys16Tyr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	79	13	0.164557	NM_006816	Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	CCDS4417.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.76	2.929099	0.52759	0.00227	0.0	ENSG00000169223	ENST00000303127;ENST00000515209;ENST00000514458;ENST00000502560	T;T;T;T	0.64085	-0.02;-0.04;-0.08;-0.02	5.25	3.44	0.39384	.	0.338095	0.32372	N	0.006186	T	0.36826	0.0981	N	0.08118	0	0.28596	N	0.909398	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19353	-1.0308	10	0.38643	T	0.18	-16.1925	6.4711	0.22009	0.1786:0.7304:0.0:0.0909	.	16;16	Q12907;D6RBV2	LMAN2_HUMAN;.	Y	16	ENSP00000303366:C16Y;ENSP00000423998:C16Y;ENSP00000424132:C16Y;ENSP00000425229:C16Y	ENSP00000303366:C16Y	C	-	2	0	LMAN2	176711208	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.282000	0.33226	0.769000	0.33313	0.644000	0.83932	TGC	C|0.999;T|0.001	0.001	strong		0.647	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		T	176778602	C	T	176778602	3	4	35	1	0	0	0	0	1	0	0	0	8838	710	25	2	1055	2	LMAN2	5	176778602	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	261950	176778602	4136658	112	23339										
COL23A1	91522	hgsc.bcm.edu	37	chr5	177695744	177695744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cacttaccttttcccctttcGggcctggaagtccctggaaa	8	14	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:177695744G>A	ENST00000390654.3	-	7	839	c.482C>T	c.(481-483)cCg>cTg	p.P161L	COL23A1_ENST00000407622.1_Missense_Mutation_p.P125L	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	161	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCCTTTCGGGCCTGGAAG	0.572																																					p.P161L		Atlas-SNP	.											.	COL23A1	47	.	0			c.C482T						PASS	.						66	69	68					5																	177695744		1960	4149	6109	SO:0001583	missense	91522	exon7			CCTTTCGGGCCTG	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.482C>T	5.37:g.177695744G>A	ENSP00000375069:p.Pro161Leu	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	54	8	0.148148	NM_173465	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700780	0.48307	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.95885	-3.2;-3.84	4.9	4.9	0.64082	.	0.288677	0.27971	N	0.017120	D	0.91415	0.7291	L	0.41632	1.29	0.58432	D	0.999998	B	0.23128	0.08	B	0.04013	0.001	D	0.87953	0.2725	10	0.18276	T	0.48	1.1631	13.9866	0.64339	0.0:0.0:1.0:0.0	.	161	Q86Y22	CONA1_HUMAN	L	161;125	ENSP00000375069:P161L;ENSP00000385092:P125L	ENSP00000375069:P161L	P	-	2	0	COL23A1	177628350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.625000	0.54238	2.442000	0.82660	0.555000	0.69702	CCG	.	.	none		0.572	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		A	177695744	G	A	177695744	3	1	35	1	0	0	0	0	1	0	0	0	3682	1116	39	1	1232	1	COL23A1	5	177695744	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	917142	177695744	3219516	113	23340										
ZNF454	285676	hgsc.bcm.edu	37	chr5	178373943	178373943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gttttcccagctagaaaaaaGggaagtgtggatgccagagg	14	6	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr5:178373943G>A	ENST00000320129.3	+	4	509	c.206G>A	c.(205-207)aGg>aAg	p.R69K	ZNF454_ENST00000519564.1_Missense_Mutation_p.R69K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		CTAGAAAAAAGGGAAGTGTGG	0.483																																					p.R69K		Atlas-SNP	.											.	ZNF454	99	.	0			c.G206A						PASS	.						123	123	123					5																	178373943		2203	4300	6503	SO:0001583	missense	285676	exon4			AAAAAAGGGAAGT	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.206G>A	5.37:g.178373943G>A	ENSP00000326249:p.Arg69Lys	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	136	58	0.426471	NM_001178089	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	2.179	-0.387938	0.04932	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.00801	5.68;5.68	4.15	1.23	0.21249	Krueppel-associated box (3);	0.848058	0.09606	U	0.779552	T	0.00784	0.0026	L	0.27975	0.815	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.48625	-0.9019	10	0.21540	T	0.41	.	3.4847	0.07615	0.2209:0.0:0.5716:0.2075	.	69	Q8N9F8	ZN454_HUMAN	K	69	ENSP00000326249:R69K;ENSP00000430354:R69K	ENSP00000326249:R69K	R	+	2	0	ZNF454	178306549	0.016000	0.18221	0.003000	0.11579	0.013000	0.08279	0.214000	0.17541	0.128000	0.18479	0.563000	0.77884	AGG	.	.	none		0.483	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		A	178373943	G	A	178373943	3	1	35	1	0	0	0	0	1	0	0	0	17920	1000	35	2	216	2	ZNF454	5	178373943	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	678199	178373943	2541317	114	23341										
CD83	9308	hgsc.bcm.edu	37	chr6	14118269	14118269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	accgccccctgggatccgcaGgttccctacacggtctcctg	10	18	1	0	rs199841901		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:14118269G>C	ENST00000379153.3	+	2	297	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	42	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGATCCGCAGGTTCCCTACA	0.617																																					p.Q42H		Atlas-SNP	.											CD83,NS,lymphoid_neoplasm,0,1	CD83	23	1	0			c.G126C						PASS	.						27	28	28					6																	14118269		2203	4300	6503	SO:0001583	missense	9308	exon2			TCCGCAGGTTCCC	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.126G>C	6.37:g.14118269G>C	ENSP00000368450:p.Gln42His	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	25	7	0.28	NM_004233	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.529	0.658198	0.14645	.	.	ENSG00000112149	ENST00000379153	T	0.66280	-0.2	4.56	2.7	0.31948	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.543413	0.18136	N	0.150580	T	0.32133	0.0819	L	0.58101	1.795	0.09310	N	1	B	0.18013	0.025	B	0.19946	0.027	T	0.25710	-1.0124	10	0.27082	T	0.32	-2.8511	6.4298	0.21790	0.103:0.1834:0.7136:0.0	.	42	Q01151	CD83_HUMAN	H	42	ENSP00000368450:Q42H	ENSP00000368450:Q42H	Q	+	3	2	CD83	14226248	0.001000	0.12720	0.010000	0.14722	0.232000	0.25224	-0.028000	0.12350	0.324000	0.23333	0.491000	0.48974	CAG	G|1.000;C|0.000	0.000	strong		0.617	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			C	14118269	G	C	14118269	3	2	35	1	0	0	0	0	1	0	0	0	3041	991	35	4	132	4	CD83	6	14118269	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		14118269	156996798	115	23342										
C6orf62	81688	hgsc.bcm.edu	37	chr6	24718818	24718818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cttgaagtcaaactggtcagCtagagattcttttttctttc	7	8	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:24718818C>T	ENST00000378119.4	-	1	2246	c.79G>A	c.(79-81)Gct>Act	p.A27T	C6orf62_ENST00000540769.1_Intron|C6orf62_ENST00000378102.3_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	27						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						AACTGGTCAGCTAGAGATTCT	0.373																																					p.A27T		Atlas-SNP	.											.	C6orf62	18	.	0			c.G79A						PASS	.						95	95	95					6																	24718818		2203	4300	6503	SO:0001583	missense	81688	exon1			GGTCAGCTAGAGA	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.79G>A	6.37:g.24718818C>T	ENSP00000367359:p.Ala27Thr	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	165	17	0.10303	NM_030939	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037187	0.93630	.	.	ENSG00000112308	ENST00000378119	T	0.39592	1.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	N	0.24115	0.695	0.80722	D	1	P	0.40731	0.728	B	0.37888	0.26	T	0.13229	-1.0517	10	0.87932	D	0	-10.7654	19.8215	0.96599	0.0:1.0:0.0:0.0	.	27	Q9GZU0	CF062_HUMAN	T	27	ENSP00000367359:A27T	ENSP00000367359:A27T	A	-	1	0	C6orf62	24826797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.251000	0.78297	2.679000	0.91253	0.650000	0.86243	GCT	.	.	none		0.373	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		T	24718818	C	T	24718818	3	4	35	1	0	0	0	0	1	0	0	0	2368	797	28	2	630	2	C6orf62	6	24718818	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	10600549	24718818	146396249	116	23343										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156900	26156900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgagcaagggcaccctggtGcagaccaagggcaccggcgc	16	13	0	2	rs549787183		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:26156900G>A	ENST00000304218.3	+	1	342	c.282G>A	c.(280-282)gtG>gtA	p.V94V	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	94	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCACCCTGGTGCAGACCAAGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		15327	0.0		0.001	False		,,,				2504	0.0				p.V94V		Atlas-SNP	.											HIST1H1E,NS,carcinoma,+2,1	HIST1H1E	69	1	0			c.G282A						PASS	.						51	55	53					6																	26156900		2203	4300	6503	SO:0001819	synonymous_variant	3008	exon1			CCTGGTGCAGACC	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.282G>A	6.37:g.26156900G>A		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	91	22	0.241758	NM_005321	Q4VB25	Silent	SNP	ENST00000304218.3	37	CCDS4586.1																																																																																			.	.	none		0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26156900	G	A	26156900	2	1	35	1	0	0	0	0	0	0	0	1	7126	1306	46	2		2	HIST1H1E	6	26156900	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1438082	26156900	144958167	117	23344										
HIST1H2AD	3013	hgsc.bcm.edu	37	chr6	26199193	26199193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttacccagcaacttgtttagCtcctcgtcgttgcggatggc	10	12	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:26199193C>T	ENST00000341023.1	-	1	278	c.279G>A	c.(277-279)gaG>gaA	p.E93E	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E93D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				ACTTGTTTAGCTCCTCGTCGT	0.602																																					p.E93E		Atlas-SNP	.											HIST1H2AD,NS,lymphoid_neoplasm,0,1	HIST1H2AD	20	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G279A						scavenged	.						128	121	123					6																	26199193		2203	4300	6503	SO:0001819	synonymous_variant	3013	exon1			GTTTAGCTCCTCG	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.279G>A	6.37:g.26199193C>T		Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	195	53	0.271795	NM_021065	A0PK91|P57754|Q6FGY6	Silent	SNP	ENST00000341023.1	37	CCDS4591.1																																																																																			.	.	none		0.602	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		T	26199193	C	T	26199193	2	4	35	1	0	0	0	0	0	0	0	1	7131	796	28	2		2	HIST1H2AD	6	26199193	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	42293	26199193	144915874	118	23345										
HIST1H2BJ	8970	hgsc.bcm.edu	37	chr6	27100437	27100437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tagctctccttgcggctgcgCttgcgcttcttgccgtcttt	10	14	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:27100437C>T	ENST00000607124.1	-	1	92	c.93G>A	c.(91-93)aaG>aaA	p.K31K	HIST1H2BJ_ENST00000541790.1_Silent_p.K31K|HIST1H2BJ_ENST00000339812.2_Silent_p.K31K|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	31				KRKRS -> SAAH (in Ref. 1; CAA24950). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TGCGGCTGCGCTTGCGCTTCT	0.557																																					p.K31K		Atlas-SNP	.											.	HIST1H2BJ	21	.	0			c.G93A						PASS	.						163	156	158					6																	27100437		2203	4300	6503	SO:0001819	synonymous_variant	8970	exon1			GCTGCGCTTGCGC	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.93G>A	6.37:g.27100437C>T		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	129	13	0.100775	NM_021058	B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	CCDS4618.1																																																																																			.	.	none		0.557	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		T	27100437	C	T	27100437	2	4	35	1	0	0	0	0	0	0	0	1	7149	796	28	2		2	HIST1H2BJ	6	27100437	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	901244	27100437	144014630	119	23346										
HIST1H2AK	8330	hgsc.bcm.edu	37	chr6	27805994	27805994	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgctccggcaccgacccgctCagcgtagttgcccttgcgga	12	17	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:27805994C>A	ENST00000330180.2	-	1	123	c.124G>T	c.(124-126)Gag>Tag	p.E42*	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	42						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CCGACCCGCTCAGCGTAGTTG	0.657																																					p.E42X		Atlas-SNP	.											HIST1H2AK,bladder,carcinoma,0,1	HIST1H2AK	28	1	0			c.G124T						PASS	.						39	42	41					6																	27805994		2203	4300	6503	SO:0001587	stop_gained	8330	exon1			CCCGCTCAGCGTA	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.124G>T	6.37:g.27805994C>A	ENSP00000330307:p.Glu42*	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	120	38	0.316667	NM_003510	P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	ENST00000330180.2	37	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	14.23	2.474898	0.43942	.	.	ENSG00000184348	ENST00000330180	.	.	.	4.42	3.54	0.40534	.	0.000000	0.31381	U	0.007755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.5482	0.27778	0.0:0.737:0.1708:0.0922	.	.	.	.	X	42	.	ENSP00000330307:E42X	E	-	1	0	HIST1H2AK	27913973	0.693000	0.27728	0.921000	0.36526	0.242000	0.25591	1.349000	0.33998	2.369000	0.80426	0.655000	0.94253	GAG	.	.	none		0.657	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		A	27805994	C	A	27805994	4	1	35	1	0	0	0	0	0	1	0	0	7137	835	29	4	272	4	HIST1H2AK	6	27805994	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	705557	27805994	143309073	120	23347										
HIST1H1B	3009	hgsc.bcm.edu	37	chr6	27835055	27835055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caccaagctcttgaggcccaGcttaatgcggctgttattct	9	12	2	1	rs116008322	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:27835055G>A	ENST00000331442.3	-	1	304	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	85	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGAGGCCCAGCTTAATGCGG	0.577													G|||	45	0.00898562	0.0038	0.0101	5008	,	,		16701	0.004		0.0278	False		,,,				2504	0.001				p.L85L		Atlas-SNP	.											.	HIST1H1B	54	.	0			c.C253T						PASS	.	G		40,4366	43.8+/-77.6	0,40,2163	124	135	131		253	3.7	1	6	dbSNP_132	131	238,8362	96.6+/-158.3	4,230,4066	no	coding-synonymous	HIST1H1B	NM_005322.2		4,270,6229	AA,AG,GG		2.7674,0.9079,2.1375		85/227	27835055	278,12728	2203	4300	6503	SO:0001819	synonymous_variant	3009	exon1			GGCCCAGCTTAAT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.253C>T	6.37:g.27835055G>A		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	149	15	0.100671	NM_005322	Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	CCDS4635.1																																																																																			G|0.982;A|0.018	0.018	strong		0.577	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		A	27835055	G	A	27835055	2	1	35	1	0	0	0	0	0	0	0	1	7123	962	34	2		2	HIST1H1B	6	27835055	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	29061	27835055	143280012	121	23348										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910559	29910565	+	Frame_Shift_Del	DEL	CACATCC	CACATCC	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cactccatgaggtatttcttCacatccgtgtcccggcccgg					rs41562020|rs41543612|rs199474355|rs1059418|rs281864725|rs199474356	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	CACATCC	CACATCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:29910559_29910565delCACATCC	ENST00000396634.1	+	4	440_446	c.99_105delCACATCC	c.(97-105)ttcacatccfs	p.FTS33fs	HLA-A_ENST00000376802.2_Frame_Shift_Del_p.FTS33fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.FTS33fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.FTS33fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	33	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGTATTTCTTCACATCCGTGTCCCGGC	0.72									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.33_35del		Pindel,Atlas-Indel	.											HLA-A,NS,lymphoid_neoplasm,0,1	HLA-A	89	1	0			c.98_104del						PASS	.																																			SO:0001589	frameshift_variant	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	.	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.99_105delCACATCC	6.37:g.29910559_29910565delCACATCC	ENSP00000379873:p.Phe33fs	Somatic	83	.	.		WXS	Illumina HiSeq	Phase_I	52	14	0.269	NM_002116	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	CCDS34373.1																																																																																			.	.	none		0.72	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		-	29910565	CACATCC	-	29910559	7	5	35	1	0	1	0	1	0	0	0	0	7195	825	29	0	105	0	HLA-A	6	29910559	Frame_Shift_Del	DEL	CACATCC	TCGA-GS-A9TZ-01A-11D-A38X-10	2075504	29910559	141204508	122	23349										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911109	29911109	+	Silent	SNP	G	G	A													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gacgggcgcttcctccgcggGtaccggcaggacgcctacga					rs61760917		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:29911109G>A	ENST00000396634.1	+	5	749	c.408G>A	c.(406-408)ggG>ggA	p.G136G	HLA-A_ENST00000376802.2_Silent_p.G136G|HLA-A_ENST00000376806.5_Silent_p.G136G|HLA-A_ENST00000376809.5_Silent_p.G136G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	136	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCCTCCGCGGGTACCGGCAGG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.G136G		Atlas-SNP	.											HLA-A,colon,carcinoma,+2,1	HLA-A	89	1	0			c.G408A						PASS	.						33	25	28					6																	29911109		1500	2695	4195	SO:0001819	synonymous_variant	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CCGCGGGTACCGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.408G>A	6.37:g.29911109G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																			.	.	weak		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29911109	G	A	29911109	2	1	35	1	0	0	0	0	0	0	0	1	7195	1248	44	2		2	HLA-A	6	29911109	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	550	29911109	141203958	123	23350	477	2								
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911113	29911115	+	In_Frame_Del	DEL	CGG	CGG	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggcgcttcctccgcgggtacCggcaggacgcctacgacggc					rs3173420|rs41540315|rs66488547|rs1059498|rs12721717	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:29911113_29911115delCGG	ENST00000396634.1	+	5	753_755	c.412_414delCGG	c.(412-414)cggdel	p.R138del	HLA-A_ENST00000376802.2_In_Frame_Del_p.R138del|HLA-A_ENST00000376806.5_In_Frame_Del_p.R138del|HLA-A_ENST00000376809.5_In_Frame_Del_p.R138del			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	138	Alpha-2.		Q -> R (in allele A*31:03, allele A*31:04 and allele A*31:06).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCGCGGGTACCGGCAGGACGCCT	0.665									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.137_138del		Pindel,Atlas-Indel	.											.	HLA-A	89	.	0			c.411_413del						PASS	.																																			SO:0001651	inframe_deletion	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	.	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.412_414delCGG	6.37:g.29911113_29911115delCGG	ENSP00000379873:p.Arg138del	Somatic	171	.	.		WXS	Illumina HiSeq	Phase_I	67	24	0.358	NM_002116	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	In_Frame_Del	DEL	ENST00000396634.1	37	CCDS34373.1																																																																																			.	.	none		0.665	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		-	29911115	CGG	-	29911113	7	5	35	1	0	1	0	1	0	0	0	0	7195	643	23	0	422	0	HLA-A	6	29911113	In_Frame_Del	DEL	CGG	TCGA-GS-A9TZ-01A-11D-A38X-10	4	29911113	141203954	124	23351	477	2								
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324195	31324201	+	Frame_Shift_Del	DEL	TACATGC	TACATGC	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccggccccacgtcgcagccgTacatgctctggagggtgtga					rs151341218|rs1071652|rs151341216|rs151341217|rs41545614|rs1140412|rs41547332|rs41562913	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	TACATGC	TACATGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:31324195_31324201delTACATGC	ENST00000412585.2	-	3	390_396	c.362_368delGCATGTA	c.(361-369)agcatgtacfs	p.SMY121fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	121	Alpha-2.		S -> R (in allele B*48:03).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTCGCAGCCGTACATGCTCTGGAGGGT	0.71									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.121_123del		Pindel,Atlas-Indel	.											.	HLA-B	54	.	0			c.363_369del						PASS	.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	.	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.362_368delGCATGTA	6.37:g.31324195_31324201delTACATGC	ENSP00000399168:p.Ser121fs	Somatic	55	.	.		WXS	Illumina HiSeq	Phase_I	36	13	0.361	NM_005514	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.	.	alt		0.71	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31324201	TACATGC	-	31324195	7	5	35	1	0	1	0	1	0	0	0	0	7196	1638	57	0	740	0	HLA-B	6	31324195	Frame_Shift_Del	DEL	TACATGC	TCGA-GS-A9TZ-01A-11D-A38X-10	1413082	31324195	139790872	125	23352										
BAT2	7916	hgsc.bcm.edu	37	chr6	31602134	31602134	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccctcacatctggaaccgttTacatactggtgagtaaagct	8	11	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:31602134T>G	ENST00000376033.2	+	19	5075	c.4841T>G	c.(4840-4842)tTa>tGa	p.L1614*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.L1614*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1614	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGAACCGTTTACATACTGGT	0.522																																					p.L1614X		Atlas-SNP	.											.	PRRC2A	152	.	0			c.T4841G						PASS	.						156	182	173					6																	31602134		1511	2709	4220	SO:0001587	stop_gained	7916	exon19			ACCGTTTACATAC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4841T>G	6.37:g.31602134T>G	ENSP00000365201:p.Leu1614*	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	64	27	0.421875	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	T	47	13.600033	0.99752	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.31	5.31	0.75309	.	0.151859	0.30809	N	0.008826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.4528	12.8775	0.57998	0.0:0.0:0.0:1.0	.	.	.	.	X	1608;1597;1614;1614;839	.	ENSP00000365175:L1614X	L	+	2	0	PRRC2A	31710113	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.955000	0.56715	2.234000	0.73211	0.459000	0.35465	TTA	.	.	none		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31602134	T	G	31602134	4	3	35	1	0	0	0	0	0	1	0	0	1319	1764	61	5	4911	5	BAT2	6	31602134	Nonsense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	277939	31602134	139512933	126	23353										
BRD2	6046	hgsc.bcm.edu	37	chr6	32948431	32948431	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tagcgcttccagctccagctCagattccagctcctcctctt	6	17	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:32948431C>G	ENST00000374825.4	+	13	4043	c.2342C>G	c.(2341-2343)tCa>tGa	p.S781*	BRD2_ENST00000374831.4_Nonsense_Mutation_p.S781*|BRD2_ENST00000395289.2_Nonsense_Mutation_p.S816*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.S734*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.S816*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.S661*	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	781	Poly-Ser.|Ser-rich.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGCTCCAGCTCAGATTCCAGC	0.537																																					p.S816X		Atlas-SNP	.											.	BRD2	70	.	0			c.C2447G						PASS	.						110	90	97					6																	32948431		1511	2709	4220	SO:0001587	stop_gained	6046	exon13			CCAGCTCAGATTC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2342C>G	6.37:g.32948431C>G	ENSP00000363958:p.Ser781*	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	56	17	0.303571	NM_001199455	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Nonsense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	19.565009|19.565009	0.99921|0.99921	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|.	.|.	.|.	6.15|6.15	6.15|6.15	0.99193|0.99193	.|.	.|0.000000	.|0.42420	.|D	.|0.000718	T|.	0.68824|.	0.3043|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64347|.	-0.6429|.	4|.	.|0.38643	.|T	.|0.18	-12.1118|-12.1118	18.3325|18.3325	0.90274|0.90274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	787|781;781;816;661;816;734	.|.	.|ENSP00000363958:S781X	Q|S	+|+	1|2	0|0	BRD2|BRD2	33056409|33056409	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.967000|0.967000	0.64934|0.64934	6.781000|6.781000	0.75068|0.75068	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	CAG|TCA	.	.	none		0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			G	32948431	C	G	32948431	4	3	35	1	0	0	0	0	0	1	0	0	1502	838	29	4	2388	4	BRD2	6	32948431	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1346297	32948431	138166636	127	23354										
TBCC	6903	hgsc.bcm.edu	37	chr6	42713452	42713452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgctcggccaaggccgcctgCagccgcgccagcgcctcttg	13	19	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:42713452C>T	ENST00000372876.1	-	1	382	c.360G>A	c.(358-360)ctG>ctA	p.L120L	TBCC_ENST00000244625.2_Silent_p.L120L	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	120					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGGCCGCCTGCAGCCGCGCCA	0.627																																					p.L120L		Atlas-SNP	.											.	TBCC	31	.	0			c.G360A						PASS	.						18	24	22					6																	42713452		2172	4260	6432	SO:0001819	synonymous_variant	6903	exon1			CGCCTGCAGCCGC	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.360G>A	6.37:g.42713452C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	41	13	0.317073	NM_003192	Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	CCDS4872.1																																																																																			.	.	none		0.627	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		T	42713452	C	T	42713452	2	4	35	1	0	0	0	0	0	0	0	1	15628	697	25	2		2	TBCC	6	42713452	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	9765021	42713452	128401615	128	23355										
PGK2	5232	hgsc.bcm.edu	37	chr6	49754100	49754100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtgctttggccatgatatcTttaacgatcttggctccctc	8	11	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:49754100T>G	ENST00000304801.3	-	1	953	c.801A>C	c.(799-801)aaA>aaC	p.K267N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	267					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCATGATATCTTTAACGATCT	0.418																																					p.K267N		Atlas-SNP	.											.	PGK2	87	.	0			c.A801C						PASS	.						135	128	130					6																	49754100		2203	4300	6503	SO:0001583	missense	5232	exon1			GATATCTTTAACG	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.801A>C	6.37:g.49754100T>G	ENSP00000305995:p.Lys267Asn	Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	186	56	0.301075	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	T	2.954	-0.216024	0.06101	.	.	ENSG00000170950	ENST00000304801	D	0.92495	-3.05	4.09	-6.89	0.01660	Phosphoglycerate kinase, C-terminal (1);	0.232879	0.49916	N	0.000136	T	0.67841	0.2936	L	0.38531	1.155	0.38455	D	0.947053	B	0.06786	0.001	B	0.08055	0.003	T	0.39860	-0.9593	10	0.31617	T	0.26	-0.3183	1.399	0.02267	0.3607:0.3258:0.1225:0.1911	.	267	P07205	PGK2_HUMAN	N	267	ENSP00000305995:K267N	ENSP00000305995:K267N	K	-	3	2	PGK2	49862059	0.831000	0.29352	0.519000	0.27824	0.334000	0.28698	-0.119000	0.10676	-1.401000	0.02058	0.477000	0.44152	AAA	.	.	none		0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			G	49754100	T	G	49754100	3	3	35	1	0	0	0	0	1	0	0	0	11791	1606	56	5	456	5	PGK2	6	49754100	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	7040648	49754100	121360967	129	23356										
BAI3	577	hgsc.bcm.edu	37	chr6	70070955	70070955	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acatgcccatgagtatgaatGagcttagcaatccatgtttg	9	8	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:70070955G>A	ENST00000370598.1	+	29	4611	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	BAI3_ENST00000238918.8_Missense_Mutation_p.E470K|BAI3_ENST00000546190.1_Missense_Mutation_p.E228K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1264					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTATGAATGAGCTTAGCAA	0.413																																					p.E1264K		Atlas-SNP	.											BAI3,right_upper_lobe,carcinoma,-2,1	BAI3	451	1	0			c.G3790A						PASS	.						92	85	87					6																	70070955		2203	4299	6502	SO:0001583	missense	577	exon29			ATGAATGAGCTTA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3790G>A	6.37:g.70070955G>A	ENSP00000359630:p.Glu1264Lys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	95	25	0.263158	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512258	0.64522	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.48201	1.97;2.58;0.82	5.58	5.58	0.84498	.	0.052110	0.85682	D	0.000000	T	0.29491	0.0735	L	0.32530	0.975	0.47009	D	0.999288	B;P	0.46395	0.319;0.877	B;B	0.37731	0.055;0.257	T	0.27502	-1.0072	10	0.72032	D	0.01	.	19.9199	0.97084	0.0:0.0:1.0:0.0	.	470;1264	B7Z356;O60242	.;BAI3_HUMAN	K	1264;470;228	ENSP00000359630:E1264K;ENSP00000238918:E470K;ENSP00000441821:E228K	ENSP00000238918:E470K	E	+	1	0	BAI3	70127676	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.174000	0.94824	2.781000	0.95711	0.591000	0.81541	GAG	.	.	none		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	70070955	G	A	70070955	3	1	35	1	0	0	0	0	1	0	0	0	1300	1291	45	2	3896	2	BAI3	6	70070955	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	20316855	70070955	101044112	130	23357										
TMEM30A	55754	hgsc.bcm.edu	37	chr6	75969173	75969173	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagcgataggtataggataaGaatcattgccaatgagaaac	10	5	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:75969173G>C	ENST00000230461.6	-	5	904	c.575C>G	c.(574-576)tCt>tGt	p.S192C	TMEM30A_ENST00000475111.2_Missense_Mutation_p.S156C|TMEM30A_ENST00000370050.5_Missense_Mutation_p.S73C	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	192					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATAGGATAAGAATCATTGCC	0.353																																					p.S192C		Atlas-SNP	.											.	TMEM30A	40	.	0			c.C575G						PASS	.						81	81	81					6																	75969173		2203	4295	6498	SO:0001583	missense	55754	exon5			GGATAAGAATCAT	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.575C>G	6.37:g.75969173G>C	ENSP00000230461:p.Ser192Cys	Somatic	348	0	0		WXS	Illumina HiSeq	Phase_I	262	59	0.225191	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850681	0.71719	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	5.31	5.31	0.75309	.	0.374161	0.30565	N	0.009358	T	0.74966	0.3786	M	0.83012	2.62	0.38661	D	0.952079	D;D	0.63046	0.982;0.992	P;P	0.58520	0.753;0.84	T	0.78409	-0.2215	9	0.59425	D	0.04	.	19.3389	0.94334	0.0:0.0:1.0:0.0	.	156;192	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	C	192;176;73;156;73	.	ENSP00000230461:S192C	S	-	2	0	TMEM30A	76025893	0.987000	0.35691	0.954000	0.39281	0.425000	0.31504	3.458000	0.53014	2.650000	0.89964	0.655000	0.94253	TCT	.	.	none		0.353	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		C	75969173	G	C	75969173	3	2	35	1	0	0	0	0	1	0	0	0	16150	942	33	4	522	4	TMEM30A	6	75969173	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	5898218	75969173	95145894	131	23358										
UBE2J1	51465	hgsc.bcm.edu	37	chr6	90062277	90062277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccggactcttcaggttgtaGcgggtctccatggtgggtcg	15	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:90062277G>A	ENST00000435041.2	-	1	290	c.12C>T	c.(10-12)cgC>cgT	p.R4R		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	4					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCAGGTTGTAGCGGGTCTCCA	0.761																																					p.R4R		Atlas-SNP	.											.	UBE2J1	28	.	0			c.C12T						PASS	.						17	18	17					6																	90062277		2192	4280	6472	SO:0001819	synonymous_variant	51465	exon1			GTTGTAGCGGGTC	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.12C>T	6.37:g.90062277G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	48	16	0.333333	NM_016021	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	37	CCDS5021.1																																																																																			.	.	none		0.761	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		A	90062277	G	A	90062277	2	1	35	1	0	0	0	0	0	0	0	1	16857	958	34	2		2	UBE2J1	6	90062277	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	14093104	90062277	81052790	132	23359										
BACH2	60468	hgsc.bcm.edu	37	chr6	90660815	90660815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagaccttaagcaggagggcGaggccacgctcctggatctc	14	12	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:90660815G>A	ENST00000257749.4	-	7	1717	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	BACH2_ENST00000343122.3_Missense_Mutation_p.S337L|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.S337L|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	337						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCAGGAGGGCGAGGCCACGCT	0.642																																					p.S337L		Atlas-SNP	.											.	BACH2	224	.	0			c.C1010T						PASS	.						40	44	43					6																	90660815		2203	4299	6502	SO:0001583	missense	60468	exon5			GAGGGCGAGGCCA	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1010C>T	6.37:g.90660815G>A	ENSP00000257749:p.Ser337Leu	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	77	21	0.272727	NM_001170794	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870621	0.72065	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.55930	0.49;0.49;0.49	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.27053	0.805	0.51233	D	0.999915	D	0.89917	1.0	D	0.80764	0.994	T	0.62343	-0.6874	10	0.87932	D	0	-0.1721	19.5375	0.95260	0.0:0.0:1.0:0.0	.	337	Q9BYV9	BACH2_HUMAN	L	337	ENSP00000257749:S337L;ENSP00000437473:S337L;ENSP00000345642:S337L	ENSP00000257749:S337L	S	-	2	0	BACH2	90717536	1.000000	0.71417	0.921000	0.36526	0.606000	0.37113	9.230000	0.95299	2.620000	0.88729	0.655000	0.94253	TCG	.	.	none		0.642	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90660815	G	A	90660815	3	1	35	1	0	0	0	0	1	0	0	0	1284	1059	37	1	1527	1	BACH2	6	90660815	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	598538	90660815	80454252	133	23360										
BACH2	60468	hgsc.bcm.edu	37	chr6	90718537	90718537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gactcatacacatacatgggGgagtcaggcttctcatccac	9	12	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:90718537G>A	ENST00000257749.4	-	6	734	c.27C>T	c.(25-27)tcC>tcT	p.S9S	BACH2_ENST00000343122.3_Silent_p.S9S|BACH2_ENST00000537989.1_Silent_p.S9S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CATACATGGGGGAGTCAGGCT	0.478																																					p.S9S		Atlas-SNP	.											.	BACH2	224	.	0			c.C27T						PASS	.						141	133	136					6																	90718537		2203	4300	6503	SO:0001819	synonymous_variant	60468	exon4			CATGGGGGAGTCA	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.27C>T	6.37:g.90718537G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	67	15	0.223881	NM_001170794	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																			.	.	none		0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90718537	G	A	90718537	2	1	35	1	0	0	0	0	0	0	0	1	1284	1219	43	2		2	BACH2	6	90718537	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	57722	90718537	80396530	134	23361										
ASCC3	10973	hgsc.bcm.edu	37	chr6	101037846	101037846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctccaatttcaatacagtagGaaagttccaattcaatcagg	6	9	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:101037846G>A	ENST00000369162.2	-	35	5737	c.5393C>T	c.(5392-5394)tCc>tTc	p.S1798F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1798					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)		AATACAGTAGGAAAGTTCCAA	0.358																																					p.S1798F		Atlas-SNP	.											.	ASCC3	205	.	0			c.C5393T						PASS	.						82	80	81					6																	101037846		2203	4300	6503	SO:0001583	missense	10973	exon35			CAGTAGGAAAGTT	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.5393C>T	6.37:g.101037846G>A	ENSP00000358159:p.Ser1798Phe	Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	171	31	0.181287	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581274	0.86748	.	.	ENSG00000112249	ENST00000369162	T	0.42513	0.97	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.72327	-0.4327	10	0.87932	D	0	.	19.2468	0.93905	0.0:0.0:1.0:0.0	.	1798	Q8N3C0	HELC1_HUMAN	F	1798	ENSP00000358159:S1798F	ENSP00000358159:S1798F	S	-	2	0	ASCC3	101144567	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.802000	0.91910	2.558000	0.86282	0.579000	0.79373	TCC	.	.	none		0.358	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101037846	G	A	101037846	3	1	35	1	0	0	0	0	1	0	0	0	1033	1174	41	2	1247	2	ASCC3	6	101037846	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10319309	101037846	70077221	135	23362										
POPDC3	64208	hgsc.bcm.edu	37	chr6	105607586	105607586	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtgttctggtatcccttacCtgaaaaatgccttcctctgt	7	11	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:105607586C>T	ENST00000254765.3	-	3	872	c.594G>A	c.(592-594)caG>caA	p.Q198Q	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	198					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TATCCCTTACCTGAAAAATGC	0.398																																					p.Q198Q		Atlas-SNP	.											.	POPDC3	47	.	0			c.G594A						PASS	.						82	78	80					6																	105607586		2203	4300	6503	SO:0001630	splice_region_variant	64208	exon3			CCTTACCTGAAAA	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.594+1G>A	6.37:g.105607586C>T		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	166	43	0.259036	NM_022361	B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	CCDS5052.1																																																																																			.	.	none		0.398	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	Silent	T	105607586	C	T	105607586	5	4	35	1	0	0	0	0	0	0	1	0	12256	695	24	2	289	2	POPDC3	6	105607586	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4569740	105607586	65507481	136	23363										
AIM1	202	hgsc.bcm.edu	37	chr6	106968516	106968516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgccatgcctcctattcacGaagaccatttagaaaaggtg	8	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:106968516G>A	ENST00000369066.3	+	2	2696	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K		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)		TCCTATTCACGAAGACCATTT	0.433																																					p.E737K		Atlas-SNP	.											.	AIM1	161	.	0			c.G2209A						PASS	.						62	66	64					6																	106968516		2203	4300	6503	SO:0001583	missense	202	exon2			ATTCACGAAGACC	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.2209G>A	6.37:g.106968516G>A	ENSP00000358062:p.Glu737Lys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	81	17	0.209877	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970040	0.92855	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.83992	-1.79	6.16	6.16	0.99307	.	0.329901	0.30374	N	0.009768	D	0.91002	0.7170	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90292	0.4323	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	737	Q9Y4K1	AIM1_HUMAN	K	1145;737	ENSP00000358062:E737K	ENSP00000285105:E1145K	E	+	1	0	AIM1	107075209	1.000000	0.71417	0.992000	0.48379	0.704000	0.40688	7.927000	0.87577	2.937000	0.99478	0.650000	0.86243	GAA	.	.	none		0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			A	106968516	G	A	106968516	3	1	35	1	0	0	0	0	1	0	0	0	430	1059	37	1	2215	1	AIM1	6	106968516	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1360930	106968516	64146551	137	23364										
OSTM1	28962	hgsc.bcm.edu	37	chr6	108370472	108370472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cttacgcagaatgagtttgcGtttcttttgctctgagtgaa	10	7	2	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:108370472G>A	ENST00000193322.3	-	5	1019	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	312					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		ATGAGTTTGCGTTTCTTTTGC	0.338																																					p.R312C	Melanoma(162;1427 1909 3096 17430 21396)	Atlas-SNP	.											.	OSTM1	22	.	0			c.C934T						PASS	.						58	54	56					6																	108370472		2203	4300	6503	SO:0001583	missense	28962	exon5			GTTTGCGTTTCTT	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"CLCN7 accessory beta subunit"	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.934C>T	6.37:g.108370472G>A	ENSP00000193322:p.Arg312Cys	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	130	20	0.153846	NM_014028	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899649	0.72754	.	.	ENSG00000081087	ENST00000193322;ENST00000440575	T	0.55234	0.53	5.59	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74466	-0.3656	10	0.87932	D	0	-10.502	17.1745	0.86838	0.0:0.0:0.8652:0.1348	.	312	Q86WC4	OSTM1_HUMAN	C	312;165	ENSP00000193322:R312C	ENSP00000193322:R312C	R	-	1	0	OSTM1	108477165	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.544000	0.82117	2.635000	0.89317	0.650000	0.86243	CGC	.	.	none		0.338	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		A	108370472	G	A	108370472	3	1	35	1	0	0	0	0	1	0	0	0	11298	1145	40	1	78	1	OSTM1	6	108370472	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1401956	108370472	62744595	138	23365										
REV3L	5980	hgsc.bcm.edu	37	chr6	111656671	111656671	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcaagaaaactgatttcccaCctgtgaaccccttgtcagta	7	12	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:111656671C>T	ENST00000358835.3	-	23	8135		c.e23+1		REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000435970.1_Splice_Site|REV3L_ENST00000368805.1_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						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)		TGATTTCCCACCTGTGAACCC	0.388								DNA polymerases (catalytic subunits)																													.		Atlas-SNP	.											.	REV3L	386	.	0			c.7680+1G>A						PASS	.						128	125	126					6																	111656671		2203	4300	6503	SO:0001630	splice_region_variant	5980	exon23			TTCCCACCTGTGA	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.7680+1G>A	6.37:g.111656671C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	84	20	0.238095	NM_002912	O43214|Q5TC33	Splice_Site	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872625	0.91587	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4635	0.94929	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REV3L	111763364	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.814000	0.86154	2.585000	0.87301	0.460000	0.39030	.	.	.	none		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	Intron	T	111656671	C	T	111656671	5	4	35	1	0	0	0	0	0	0	1	0	13240	521	18	2	1755	2	REV3L	6	111656671	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3286199	111656671	59458396	139	23366										
GOPC	57120	hgsc.bcm.edu	37	chr6	117894665	117894665	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgcattggtcgtttcaagtCattacgtcctctgcaggctc	9	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:117894665C>A	ENST00000368498.2	-	5	856	c.781G>T	c.(781-783)Gac>Tac	p.D261Y	GOPC_ENST00000052569.6_Missense_Mutation_p.D253Y|GOPC_ENST00000535237.1_Missense_Mutation_p.D261Y|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	261					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CGTTTCAAGTCATTACGTCCT	0.448			O	ROS1	glioblastoma																																p.D261Y		Atlas-SNP	.		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	.	GOPC	29	.	0			c.G781T						PASS	.						273	209	231					6																	117894665		2203	4300	6503	SO:0001583	missense	57120	exon5			TCAAGTCATTACG	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.781G>T	6.37:g.117894665C>A	ENSP00000357484:p.Asp261Tyr	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	164	50	0.304878	NM_020399	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998376	0.93227	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.17691	2.26;2.27;2.27	6.06	6.06	0.98353	PDZ/DHR/GLGF (1);	0.098800	0.64402	D	0.000002	T	0.27663	0.0680	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.993	P;P;P	0.59221	0.846;0.854;0.747	T	0.00494	-1.1706	10	0.72032	D	0.01	-13.5307	20.6208	0.99490	0.0:1.0:0.0:0.0	.	253;261;261	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	Y	253;261;261	ENSP00000052569:D253Y;ENSP00000357484:D261Y;ENSP00000445690:D261Y	ENSP00000052569:D253Y	D	-	1	0	GOPC	118001358	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	6.089000	0.71384	2.882000	0.98803	0.655000	0.94253	GAC	.	.	none		0.448	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		A	117894665	C	A	117894665	3	1	35	1	0	0	0	0	1	0	0	0	6573	826	29	4	627	4	GOPC	6	117894665	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6237994	117894665	53220402	140	23367										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138200319	138200319	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcccctccccgcattcttgCcacagagctggaaacgacgc	9	17	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:138200319C>A	ENST00000237289.4	+	7	1803	c.1737C>A	c.(1735-1737)tgC>tgA	p.C579*		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	579	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CGCATTCTTGCCACAGAGCTG	0.657			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.C579X	GBM(130;153 1739 22295 28918 47987)	Atlas-SNP	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	c.C1737A						PASS	.						48	54	52					6																	138200319		2203	4300	6503	SO:0001587	stop_gained	7128	exon7			TTCTTGCCACAGA	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1737C>A	6.37:g.138200319C>A	ENSP00000237289:p.Cys579*	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	40	11	0.275	NM_001270507	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Nonsense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062660	0.76187	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	.	.	.	5.58	3.81	0.43845	.	0.307688	0.37053	N	0.002263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4105	10.5766	0.45231	0.0:0.8502:0.0:0.1498	.	.	.	.	X	579	.	ENSP00000237289:C579X	C	+	3	2	TNFAIP3	138242012	0.641000	0.27251	1.000000	0.80357	0.025000	0.11179	0.166000	0.16583	0.733000	0.32492	-0.254000	0.11334	TGC	.	.	none		0.657	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			A	138200319	C	A	138200319	4	1	35	1	0	0	0	0	0	1	0	0	16271	747	26	4	1759	4	TNFAIP3	6	138200319	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	20305654	138200319	32914748	141	23368										
TNFAIP3	7128	hgsc.bcm.edu	37	chr6	138202395	138202395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccccgcctgtgatcattttgGcaatgccaagtgcaacggct	10	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr6:138202395G>A	ENST00000237289.4	+	9	2378	c.2312G>A	c.(2311-2313)gGc>gAc	p.G771D		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	771	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GATCATTTTGGCAATGCCAAG	0.617			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.G771D	GBM(130;153 1739 22295 28918 47987)	Atlas-SNP	.		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	.	TNFAIP3	340	.	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	c.G2312A						PASS	.						71	78	76					6																	138202395		2202	4299	6501	SO:0001583	missense	7128	exon9			ATTTTGGCAATGC	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2312G>A	6.37:g.138202395G>A	ENSP00000237289:p.Gly771Asp	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	116	37	0.318966	NM_001270507	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684692	0.88639	.	.	ENSG00000118503	ENST00000237289	T	0.69175	-0.38	5.66	5.66	0.87406	Zinc finger, A20-type (3);	0.050625	0.85682	D	0.000000	T	0.76751	0.4031	M	0.61703	1.905	0.54753	D	0.999986	D	0.89917	1.0	D	0.79784	0.993	T	0.77370	-0.2613	10	0.59425	D	0.04	-15.7251	17.9235	0.88975	0.0:0.0:1.0:0.0	.	771	P21580	TNAP3_HUMAN	D	771	ENSP00000237289:G771D	ENSP00000237289:G771D	G	+	2	0	TNFAIP3	138244088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.625000	0.74248	2.668000	0.90789	0.557000	0.71058	GGC	.	.	none		0.617	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			A	138202395	G	A	138202395	3	1	35	1	0	0	0	0	1	0	0	0	16271	1203	42	2	2342	2	TNFAIP3	6	138202395	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2076	138202395	32912672	142	23369										
ACTB	60	hgsc.bcm.edu	37	chr7	5568300	5568300	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaggcgtacagggatagcacAgcctggatagcaacgtacat	13	9	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:5568300A>T	ENST00000331789.5	-	4	605	c.414T>A	c.(412-414)gcT>gcA	p.A138A	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	138					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGATAGCACAGCCTGGATAG	0.577																																					p.A138A		Atlas-SNP	.											.	ACTB	45	.	0			c.T414A						PASS	.						106	107	107					7																	5568300		2203	4300	6503	SO:0001819	synonymous_variant	60	exon4			TAGCACAGCCTGG	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.414T>A	7.37:g.5568300A>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	69	18	0.26087	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	CCDS5341.1																																																																																			.	.	none		0.577	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		T	5568300	A	T	5568300	2	4	35	1	0	0	0	0	0	0	0	1	193	175	7	5		5	ACTB	7	5568300	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10		5568300	153570363	143	23370			1	103		3	3	952	N	C_A	7.443358e-05
ACTB	60	hgsc.bcm.edu	37	chr7	5568897	5568897	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcattgtagaaggtgtggtgCcagattttctccatgtcgtc	11	8	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:5568897C>G	ENST00000331789.5	-	3	449	c.258G>C	c.(256-258)tgG>tgC	p.W86C	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	86					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGTGTGGTGCCAGATTTTCT	0.612																																					p.W86C		Atlas-SNP	.											.	ACTB	45	.	0			c.G258C						PASS	.						66	65	66					7																	5568897		2203	4300	6503	SO:0001583	missense	60	exon3			GTGGTGCCAGATT	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.258G>C	7.37:g.5568897C>G	ENSP00000349960:p.Trp86Cys	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	72	16	0.222222	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643886	0.47258	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588;ENST00000443528;ENST00000417101	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.01	5.01	0.66863	.	0.316889	0.27375	N	0.019646	D	0.99105	0.9692	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98789	1.0735	10	0.87932	D	0	.	15.8267	0.78711	0.0:1.0:0.0:0.0	.	86	P60709	ACTB_HUMAN	C	86;86;58;5;86;86;89	ENSP00000349960:W86C;ENSP00000407473:W86C;ENSP00000393951:W86C;ENSP00000399487:W89C	ENSP00000440549:W5C	W	-	3	0	ACTB	5535423	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.868000	0.69605	2.312000	0.78011	0.563000	0.77884	TGG	.	.	none		0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		G	5568897	C	G	5568897	3	3	35	1	0	0	0	0	1	0	0	0	193	740	26	4	885	4	ACTB	7	5568897	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	597	5568897	153569766	144	23371			1	103		3	3	952	N	C_A	7.443358e-05
ACTB	60	hgsc.bcm.edu	37	chr7	5569251	5569251	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cggccttgcacatgccggagCcgttgtcgacgacgagcgcg	15	14	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:5569251C>G	ENST00000331789.5	-	2	229	c.38G>C	c.(37-39)gGc>gCc	p.G13A	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	13					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CATGCCGGAGCCGTTGTCGAC	0.706																																					p.G13A		Atlas-SNP	.											.	ACTB	45	.	0			c.G38C						PASS	.						19	22	21					7																	5569251		2164	4231	6395	SO:0001583	missense	60	exon2			CCGGAGCCGTTGT	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.38G>C	7.37:g.5569251C>G	ENSP00000349960:p.Gly13Ala	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	56	7	0.125	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650746	0.67472	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.99905	-7.72;-7.72;-6.54;-6.54;-6.54	4.69	3.79	0.43588	.	0.000000	0.64402	D	0.000008	D	0.99928	0.9967	H	0.98388	4.22	0.45205	D	0.998217	P	0.48503	0.911	P	0.61477	0.889	D	0.95933	0.8940	10	0.87932	D	0	.	11.9093	0.52729	0.1757:0.8243:0.0:0.0	.	13	P60709	ACTB_HUMAN	A	13;13;13;13;13;16;13	ENSP00000349960:G13A;ENSP00000407473:G13A;ENSP00000393951:G13A;ENSP00000399487:G16A;ENSP00000401032:G13A	ENSP00000349960:G13A	G	-	2	0	ACTB	5535777	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	5.726000	0.68515	0.945000	0.37605	0.557000	0.71058	GGC	.	.	none		0.706	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		G	5569251	C	G	5569251	3	3	35	1	0	0	0	0	1	0	0	0	193	739	26	4	1109	4	ACTB	7	5569251	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	354	5569251	153569412	145	23372			1	103		3	3	952	N	C_A	7.443358e-05
HDAC9	9734	hgsc.bcm.edu	37	chr7	18674253	18674253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcacaatatttttcagaatCctcagtcagtagcagttctc	5	10	5	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:18674253C>T	ENST00000432645.2	+	7	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F	HDAC9_ENST00000456174.2_Missense_Mutation_p.S236F|HDAC9_ENST00000405010.3_Missense_Mutation_p.S264F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S223F|HDAC9_ENST00000406072.1_Missense_Mutation_p.S251F|HDAC9_ENST00000406451.4_Missense_Mutation_p.S264F|HDAC9_ENST00000428307.2_Missense_Mutation_p.S220F|HDAC9_ENST00000524023.1_Missense_Mutation_p.S187F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S267F|HDAC9_ENST00000417496.2_Missense_Mutation_p.S262F	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	264	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTTTCAGAATCCTCAGTCAGT	0.418																																					p.S267F		Atlas-SNP	.											.	HDAC9	560	.	0			c.C800T						PASS	.						75	70	71					7																	18674253		1872	4103	5975	SO:0001583	missense	9734	exon7			CAGAATCCTCAGT	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.791C>T	7.37:g.18674253C>T	ENSP00000410337:p.Ser264Phe	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	116	33	0.284483	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712624	0.89112	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.68765	0.17;0.55;0.04;0.21;0.18;-0.35;0.04;0.04;0.55;0.22	5.51	5.51	0.81932	.	0.112732	0.40302	N	0.001132	D	0.82375	0.5023	M	0.82323	2.585	0.80722	D	1	D;D;D;P;D;D;P;D;D;D;P;D;D;D	0.71674	0.971;0.989;0.982;0.948;0.971;0.99;0.94;0.99;0.983;0.998;0.94;0.983;0.993;0.97	B;P;P;B;P;D;P;P;P;D;P;P;P;P	0.63488	0.446;0.768;0.875;0.446;0.548;0.912;0.641;0.875;0.735;0.915;0.641;0.735;0.884;0.754	D	0.84982	0.0889	10	0.87932	D	0	-29.5288	17.5956	0.88011	0.0:1.0:0.0:0.0	.	187;236;264;251;262;264;267;223;267;264;236;264;264;242	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	F	262;265;264;264;220;251;223;264;267;236;187;264	ENSP00000401669:S262F;ENSP00000384382:S264F;ENSP00000384657:S264F;ENSP00000395655:S220F;ENSP00000384017:S251F;ENSP00000383912:S223F;ENSP00000410337:S264F;ENSP00000408617:S267F;ENSP00000388568:S236F;ENSP00000430036:S187F	ENSP00000262069:S265F	S	+	2	0	HDAC9	18640778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.790000	0.75115	2.600000	0.87896	0.650000	0.86243	TCC	.	.	none		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18674253	C	T	18674253	3	4	35	1	0	0	0	0	1	0	0	0	7014	855	30	2	826	2	HDAC9	7	18674253	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13105002	18674253	140464410	146	23373										
MACC1	346389	hgsc.bcm.edu	37	chr7	20199461	20199461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agccattttataagcctcccGatcatttttaagccactcta	4	12	2	0	rs200826339	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:20199461G>A	ENST00000400331.5	-	5	831	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	MACC1_ENST00000332878.4_Missense_Mutation_p.R175W|MACC1_ENST00000589011.1_Missense_Mutation_p.R175W	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	175					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAAGCCTCCCGATCATTTTTA	0.468													G|||	3	0.000599042	0.0	0.0043	5008	,	,		18694	0.0		0.0	False		,,,				2504	0.0				p.R175W		Atlas-SNP	.											MACC1,bladder,carcinoma,+2,1	MACC1	99	1	0			c.C523T						PASS	.						74	71	72					7																	20199461		2203	4300	6503	SO:0001583	missense	346389	exon5			CCTCCCGATCATT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.523C>T	7.37:g.20199461G>A	ENSP00000383185:p.Arg175Trp	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	105	9	0.0857143	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.92	2.974997	0.53720	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.25749	1.78;1.78	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58584	-0.7611	10	0.87932	D	0	-14.655	15.8848	0.79238	0.0:0.0:0.8633:0.1367	.	175	Q6ZN28	MACC1_HUMAN	W	175	ENSP00000383185:R175W;ENSP00000328410:R175W	ENSP00000328410:R175W	R	-	1	2	MACC1	20165986	1.000000	0.71417	0.909000	0.35828	0.882000	0.50991	2.367000	0.44213	1.349000	0.45751	0.585000	0.79938	CGG	A|0.000;G|0.999;T|0.000	0.000	strong		0.468	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		A	20199461	G	A	20199461	3	1	35	1	0	0	0	0	1	0	0	0	9143	1057	37	1	2047	1	MACC1	7	20199461	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1525208	20199461	138939202	147	23374										
CCDC129	223075	hgsc.bcm.edu	37	chr7	31614238	31614238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtgctgatgagccagacatCtgcatgcaaatcccagccag	11	12	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:31614238C>T	ENST00000407970.3	+	7	518	c.480C>T	c.(478-480)atC>atT	p.I160I	CCDC129_ENST00000451887.2_Silent_p.I186I|CCDC129_ENST00000409210.1_Silent_p.I68I|CCDC129_ENST00000319386.3_Silent_p.I160I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	160										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCCAGACATCTGCATGCAAA	0.463																																					p.I186I		Atlas-SNP	.											.	CCDC129	127	.	0			c.C558T						PASS	.						130	136	134					7																	31614238		2203	4300	6503	SO:0001819	synonymous_variant	223075	exon7			AGACATCTGCATG	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.480C>T	7.37:g.31614238C>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	120	38	0.316667	NM_001257968	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																			.	.	none		0.463	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31614238	C	T	31614238	2	4	35	1	0	0	0	0	0	0	0	1	2764	903	32	2		2	CCDC129	7	31614238	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	11414777	31614238	127524425	148	23375										
FKBP9	11328	hgsc.bcm.edu	37	chr7	33044805	33044805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agttctcagagtacattcacGcccaggtggcatctggcaaa	10	11	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:33044805G>A	ENST00000242209.4	+	10	1724	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	FKBP9_ENST00000490776.2_Missense_Mutation_p.A287T|FKBP9_ENST00000538443.1_Missense_Mutation_p.A381T|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.A572T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	519	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A519T(2)|p.A287T(2)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTACATTCACGCCCAGGTGGC	0.537																																					p.A519T		Atlas-SNP	.											FKBP9_ENST00000490776,NS,carcinoma,0,4	FKBP9	335	4	4	Substitution - Missense(4)	lung(2)|endometrium(2)	c.G1555A						PASS	.						46	45	45					7																	33044805		2203	4297	6500	SO:0001583	missense	11328	exon10			ATTCACGCCCAGG	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1555G>A	7.37:g.33044805G>A	ENSP00000242209:p.Ala519Thr	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	94	21	0.223404	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210625	0.39102	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.55234	0.53;0.53;0.53;2.25	5.07	5.07	0.68467	EF-hand-like domain (1);	0.271361	0.37348	N	0.002127	T	0.39410	0.1077	L	0.29908	0.895	0.32052	N	0.596862	B;B;B	0.26400	0.004;0.148;0.051	B;B;B	0.14578	0.001;0.011;0.006	T	0.46884	-0.9159	10	0.32370	T	0.25	-10.8601	13.7806	0.63081	0.0761:0.0:0.9239:0.0	.	287;572;519	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	T	519;572;381;287	ENSP00000242209:A519T;ENSP00000439250:A572T;ENSP00000437504:A381T;ENSP00000441317:A287T	ENSP00000242209:A519T	A	+	1	0	FKBP9	33011330	0.934000	0.31675	0.976000	0.42696	0.969000	0.65631	3.364000	0.52328	2.371000	0.80710	0.555000	0.69702	GCC	.	.	none		0.537	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33044805	G	A	33044805	3	1	35	1	0	0	0	0	1	0	0	0	5915	1087	38	1	1593	1	FKBP9	7	33044805	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1430567	33044805	126093858	149	23376										
ABCA13	154664	hgsc.bcm.edu	37	chr7	48312478	48312478	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caaacagctgctcataattgAtgaagattttcgtatttctt	6	7	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:48312478A>T	ENST00000435803.1	+	17	3239	c.3215A>T	c.(3214-3216)gAt>gTt	p.D1072V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1072					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						CTCATAATTGATGAAGATTTT	0.378																																					p.D1072V		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A3215T						PASS	.						37	34	35					7																	48312478		1822	4083	5905	SO:0001583	missense	154664	exon17			TAATTGATGAAGA	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.3215A>T	7.37:g.48312478A>T	ENSP00000411096:p.Asp1072Val	Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	148	43	0.290541	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271306	0.40194	.	.	ENSG00000179869	ENST00000435803	D	0.89810	-2.57	5.7	5.7	0.88788	.	0.124747	0.36200	N	0.002738	D	0.92466	0.7608	M	0.64997	1.995	0.29721	N	0.838639	D	0.76494	0.999	D	0.68765	0.96	D	0.89650	0.3869	10	0.87932	D	0	.	11.3534	0.49602	0.8491:0.1509:0.0:0.0	.	1072	Q86UQ4	ABCAD_HUMAN	V	1072	ENSP00000411096:D1072V	ENSP00000411096:D1072V	D	+	2	0	ABCA13	48283024	0.926000	0.31397	0.068000	0.19968	0.512000	0.34134	3.568000	0.53820	2.297000	0.77311	0.533000	0.62120	GAT	.	.	none		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48312478	A	T	48312478	3	4	35	1	0	0	0	0	1	0	0	0	31	333	12	5	3110	5	ABCA13	7	48312478	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	15267673	48312478	110826185	150	23377										
CASD1	64921	hgsc.bcm.edu	37	chr7	94173774	94173774	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggttgctgcatatttatttCagacagggtatgggcatttc	11	6	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:94173774C>T	ENST00000297273.4	+	11	1695	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	470						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)			ATATTTATTTCAGACAGGGTA	0.368																																					p.Q470X		Atlas-SNP	.											.	CASD1	70	.	0			c.C1408T						PASS	.						152	143	146					7																	94173774		2203	4298	6501	SO:0001587	stop_gained	64921	exon11			TTATTTCAGACAG	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.1408C>T	7.37:g.94173774C>T	ENSP00000297273:p.Gln470*	Somatic	384	0	0		WXS	Illumina HiSeq	Phase_I	313	81	0.258786	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Nonsense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	38	6.872998	0.97901	.	.	ENSG00000127995	ENST00000297273	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1737	0.89754	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000297273:Q470X	Q	+	1	0	CASD1	94011710	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.782000	0.85680	2.377000	0.81083	0.455000	0.32223	CAG	.	.	none		0.368	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		T	94173774	C	T	94173774	4	4	35	1	0	0	0	0	0	1	0	0	2664	827	29	2	1450	2	CASD1	7	94173774	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	45861296	94173774	64964889	151	23378										
SLC25A13	10165	hgsc.bcm.edu	37	chr7	95864216	95864216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcaaaggcaacaaattcttGaaaagatattaatctgcaac	5	7	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:95864216G>A	ENST00000265631.5	-	4	362	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.Q76*|SLC25A13_ENST00000542654.1_Intron			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	76	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACAAATTCTTGAAAAGATATT	0.363																																					p.Q76X		Atlas-SNP	.											.	SLC25A13	131	.	0			c.C226T						PASS	.						74	70	71					7																	95864216		2203	4300	6503	SO:0001587	stop_gained	10165	exon4			ATTCTTGAAAAGA	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.226C>T	7.37:g.95864216G>A	ENSP00000265631:p.Gln76*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	52	15	0.288462	NM_001160210	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	37	6.087648	0.97271	.	.	ENSG00000004864	ENST00000265631;ENST00000416240	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-11.302	19.1939	0.93679	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000265631:Q76X	Q	-	1	0	SLC25A13	95702152	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.657000	0.98554	2.846000	0.97976	0.650000	0.86243	CAA	.	.	none		0.363	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		A	95864216	G	A	95864216	4	1	35	1	0	0	0	0	0	1	0	0	14475	1299	45	2	1864	2	SLC25A13	7	95864216	Nonsense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1690442	95864216	63274447	152	23379										
MEPCE	56257	hgsc.bcm.edu	37	chr7	100028402	100028402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggccatgtagttcttgcttCgccactcaagactggtcgga	12	11	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:100028402C>T	ENST00000310512.2	+	1	1149	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	254					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTCTTGCTTCGCCACTCAAG	0.592																																					p.S254L		Atlas-SNP	.											.	MEPCE	52	.	0			c.C761T						PASS	.						129	141	137					7																	100028402		2203	4300	6503	SO:0001583	missense	56257	exon1			TTGCTTCGCCACT	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.761C>T	7.37:g.100028402C>T	ENSP00000308546:p.Ser254Leu	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	32	8	0.25	NM_019606	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458824	0.84317	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.69342	0.3100	L	0.49126	1.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.71679	-0.4520	9	0.56958	D	0.05	-2.8836	14.0318	0.64619	0.0:1.0:0.0:0.0	.	254	Q7L2J0	MEPCE_HUMAN	L	254	.	ENSP00000308546:S254L	S	+	2	0	MEPCE	99866338	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	6.607000	0.74163	2.164000	0.68074	0.313000	0.20887	TCG	.	.	none		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			T	100028402	C	T	100028402	3	4	35	1	0	0	0	0	1	0	0	0	9477	893	31	1	763	1	MEPCE	7	100028402	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4164186	100028402	59110261	153	23380										
LRWD1	222229	hgsc.bcm.edu	37	chr7	102113388	102113388	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccccagccctgggcccttggCcaggtggtgaccaagaccat	12	16	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:102113388C>A	ENST00000292616.5	+	15	1988	c.1836C>A	c.(1834-1836)ggC>ggA	p.G612G	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	612					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGGCCCTTGGCCAGGTGGTGA	0.642																																					p.G612G		Atlas-SNP	.											.	LRWD1	41	.	0			c.C1836A						PASS	.						79	70	73					7																	102113388		2203	4300	6503	SO:0001819	synonymous_variant	222229	exon15			CCTTGGCCAGGTG	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1836C>A	7.37:g.102113388C>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	66	20	0.30303	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.493029	0.04322	.	.	ENSG00000161036	ENST00000468175	.	.	.	5.41	0.334	0.15948	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.23221	N	0.998094	.	.	.	.	.	.	T	0.33111	-0.9881	4	.	.	.	-17.3779	12.6444	0.56725	0.0:0.3065:0.6198:0.0737	.	.	.	.	D	207	.	.	A	+	2	0	LRWD1	101900393	0.697000	0.27767	0.046000	0.18839	0.325000	0.28411	-0.137000	0.10389	-0.100000	0.12241	0.561000	0.74099	GCC	.	.	none		0.642	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102113388	C	A	102113388	2	1	35	1	0	0	0	0	0	0	0	1	9047	726	26	4		4	LRWD1	7	102113388	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2084986	102113388	57025275	154	23381										
SLC26A4	5172	hgsc.bcm.edu	37	chr7	107330631	107330631	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttctcttgttttgtggccacCactgctctttcccgcacggc	8	15	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:107330631C>A	ENST00000265715.3	+	10	1436	c.1212C>A	c.(1210-1212)acC>acA	p.T404T	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	404					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGTGGCCACCACTGCTCTTT	0.478									Pendred syndrome																												p.T404T		Atlas-SNP	.											.	SLC26A4	117	.	0			c.C1212A						PASS	.						165	149	155					7																	107330631		2203	4300	6503	SO:0001819	synonymous_variant	5172	exon10	Familial Cancer Database	Goiter-Deafness syndrome	GGCCACCACTGCT	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1212C>A	7.37:g.107330631C>A		Somatic	258	0	0		WXS	Illumina HiSeq	Phase_I	244	22	0.0901639	NM_000441	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																			.	.	none		0.478	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107330631	C	A	107330631	2	1	35	1	0	0	0	0	0	0	0	1	14519	581	21	4		4	SLC26A4	7	107330631	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5217243	107330631	51808032	155	23382										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110763595	110763595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	taaagtaccccatgttgctcTtcaaaaagttgtaaatctca	5	9	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:110763595T>C	ENST00000422987.3	+	2	1598	c.767T>C	c.(766-768)cTt>cCt	p.L256P	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L256P|LRRN3_ENST00000308478.5_Missense_Mutation_p.L256P|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	256					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATGTTGCTCTTCAAAAAGTT	0.333																																					p.L256P		Atlas-SNP	.											.	LRRN3	132	.	0			c.T767C						PASS	.						44	49	47					7																	110763595		2203	4295	6498	SO:0001583	missense	54674	exon2			TTGCTCTTCAAAA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.767T>C	7.37:g.110763595T>C	ENSP00000412417:p.Leu256Pro	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	148	38	0.256757	NM_018334	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.227203	0.58668	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.87	5.87	0.94306	.	0.000000	0.52532	D	0.000069	D	0.85927	0.5811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90388	0.4393	10	0.87932	D	0	.	16.2662	0.82581	0.0:0.0:0.0:1.0	.	256	Q9H3W5	LRRN3_HUMAN	P	256	ENSP00000312001:L256P;ENSP00000397312:L256P;ENSP00000412417:L256P;ENSP00000407927:L256P	ENSP00000312001:L256P	L	+	2	0	LRRN3	110550831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.247000	0.74100	0.528000	0.53228	CTT	.	.	none		0.333	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110763595	T	C	110763595	3	2	35	1	0	0	0	0	1	0	0	0	9036	1609	56	3	769	3	LRRN3	7	110763595	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	3432964	110763595	48375068	156	23383										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110764124	110764124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagagctttccttctaatctAaatgtagaagctgggagcta	10	7	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:110764124A>G	ENST00000422987.3	+	2	2127	c.1296A>G	c.(1294-1296)ctA>ctG	p.L432L	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Silent_p.L432L|LRRN3_ENST00000308478.5_Silent_p.L432L|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	432	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTTCTAATCTAAATGTAGAAG	0.438																																					p.L432L		Atlas-SNP	.											LRRN3,caecum,carcinoma,+2,2	LRRN3	132	2	0			c.A1296G						PASS	.						111	118	115					7																	110764124		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			TAATCTAAATGTA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1296A>G	7.37:g.110764124A>G		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	54	13	0.240741	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			.	.	none		0.438	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		G	110764124	A	G	110764124	2	3	35	1	0	0	0	0	0	0	0	1	9036	349	13	2		2	LRRN3	7	110764124	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	529	110764124	48374539	157	23384										
NAA38	84316	hgsc.bcm.edu	37	chr7	117832025	117832025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcttgatttggggaatattcGagcagaacctttaaattctg	10	6	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:117832025G>A	ENST00000249299.2	+	4	452	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	NAA38_ENST00000424702.1_3'UTR|NAA38_ENST00000422760.1_Missense_Mutation_p.R66Q	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	0					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GGGAATATTCGAGCAGAACCT	0.343																																					p.R87Q		Atlas-SNP	.											NAA38,NS,carcinoma,+1,1	NAA38	16	1	0			c.G260A						scavenged	.						96	99	98					7																	117832025		2203	4299	6502	SO:0001583	missense	51691	exon4			ATATTCGAGCAGA		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"N(alpha)-acetyltransferase subunits"	28212	protein-coding gene	gene with protein product			"LSM domain containing 1"	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.260G>A	7.37:g.117832025G>A	ENSP00000249299:p.Arg87Gln	Somatic	141	1	0.0070922		WXS	Illumina HiSeq	Phase_I	119	31	0.260504	NM_016200	Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	37	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575046	0.86542	.	.	ENSG00000128534	ENST00000249299;ENST00000422760	.	.	.	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	.	.	.	0.80722	D	1	P	0.51653	0.947	B	0.42771	0.397	T	0.60835	-0.7184	8	0.56958	D	0.05	-10.2314	14.6387	0.68708	0.0697:0.0:0.9303:0.0	.	87	O95777	NAA38_HUMAN	Q	87;66	.	ENSP00000249299:R87Q	R	+	2	0	NAA38	117619261	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.868000	0.92320	1.444000	0.47605	0.655000	0.94253	CGA	.	.	none		0.343	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		A	117832025	G	A	117832025	3	1	35	1	0	0	0	0	1	0	0	0	10124	1058	37	1	274	1	NAA38	7	117832025	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	7067901	117832025	41306638	158	23385										
FAM40B	57464	hgsc.bcm.edu	37	chr7	129104487	129104487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agagcatgaagctgggcatcGatgtgaacaggcacaaggag	15	7	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:129104487G>A	ENST00000249344.2	+	16	1724	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	STRIP2_ENST00000435494.2_Missense_Mutation_p.D562N	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	562					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GCTGGGCATCGATGTGAACAG	0.483																																					p.D562N		Atlas-SNP	.											.	.	.	.	0			c.G1684A						PASS	.						155	145	149					7																	129104487		2203	4300	6503	SO:0001583	missense	57464	exon16			GGCATCGATGTGA	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1684G>A	7.37:g.129104487G>A	ENSP00000249344:p.Asp562Asn	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	93	27	0.290323	NM_020704	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625599	0.96671	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.68331	-0.32;-0.32	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.89283	0.3613	10	0.87932	D	0	-20.2128	18.6487	0.91421	0.0:0.0:1.0:0.0	.	562;562	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	N	562	ENSP00000249344:D562N;ENSP00000392393:D562N	ENSP00000249344:D562N	D	+	1	0	FAM40B	128891723	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GAT	.	.	none		0.483	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		A	129104487	G	A	129104487	3	1	35	1	0	0	0	0	1	0	0	0	5561	1058	37	1	1746	1	FAM40B	7	129104487	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	11272462	129104487	30034176	159	23386										
SLC37A3	84255	hgsc.bcm.edu	37	chr7	140045717	140045717	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cagaagcagactcagggcaaGaaccggcgctctcttctgta	11	12	3	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:140045717G>A	ENST00000326232.9	-	11	1281	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	SLC37A3_ENST00000447932.2_Missense_Mutation_p.L360F|SLC37A3_ENST00000340308.3_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	360					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTCAGGGCAAGAACCGGCGCT	0.463																																					p.L360F	Esophageal Squamous(133;211 1716 4665 11387 37873)	Atlas-SNP	.											.	SLC37A3	80	.	0			c.C1078T						PASS	.						105	110	108					7																	140045717		2203	4300	6503	SO:0001583	missense	84255	exon11			GGGCAAGAACCGG	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1078C>T	7.37:g.140045717G>A	ENSP00000321498:p.Leu360Phe	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	106	29	0.273585	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526203	0.27299	.	.	ENSG00000157800	ENST00000447932;ENST00000326232	T;T	0.62498	0.02;0.25	4.98	-2.26	0.06867	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.160257	0.38164	N	0.001783	T	0.66187	0.2764	L	0.43923	1.385	0.80722	D	1	P;D	0.57257	0.951;0.979	P;D	0.65573	0.802;0.936	T	0.65240	-0.6216	10	0.52906	T	0.07	-20.8561	12.608	0.56535	0.4046:0.0:0.5954:0.0	.	360;360	Q8NCC5-2;Q8NCC5	.;SPX3_HUMAN	F	360	ENSP00000397481:L360F;ENSP00000321498:L360F	ENSP00000321498:L360F	L	-	1	0	SLC37A3	139692186	0.004000	0.15560	0.064000	0.19789	0.046000	0.14306	-0.181000	0.09740	-0.309000	0.08779	-0.471000	0.05019	CTT	.	.	none		0.463	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		A	140045717	G	A	140045717	3	1	35	1	0	0	0	0	1	0	0	0	14599	942	33	2	575	2	SLC37A3	7	140045717	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10941230	140045717	19092946	160	23387										
ZNF425	155054	hgsc.bcm.edu	37	chr7	148801312	148801312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggacactggaagggctcctCgccactgtgaagcctcgtgt	14	12	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:148801312C>T	ENST00000378061.2	-	4	1783	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	551					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAGGGCTCCTCGCCACTGTGA	0.632																																					p.E551K		Atlas-SNP	.											.	ZNF425	99	.	0			c.G1651A						PASS	.						33	33	33					7																	148801312		2202	4296	6498	SO:0001583	missense	155054	exon4			GCTCCTCGCCACT	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1651G>A	7.37:g.148801312C>T	ENSP00000367300:p.Glu551Lys	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_001001661	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870096	0.33069	.	.	ENSG00000204947	ENST00000378061	T	0.24350	1.86	3.15	3.15	0.36227	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41305	0.1153	M	0.62266	1.93	0.30830	N	0.736807	D	0.63880	0.993	P	0.61397	0.888	T	0.40831	-0.9542	9	0.87932	D	0	.	8.417	0.32676	0.0:0.7575:0.2424:0.0	.	551	Q6IV72	ZN425_HUMAN	K	551	ENSP00000367300:E551K	ENSP00000367300:E551K	E	-	1	0	ZNF425	148432245	0.027000	0.19231	0.073000	0.20177	0.298000	0.27526	1.318000	0.33643	1.770000	0.52166	0.655000	0.94253	GAG	.	.	none		0.632	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148801312	C	T	148801312	3	4	35	1	0	0	0	0	1	0	0	0	17896	893	31	1	611	1	ZNF425	7	148801312	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	8755595	148801312	10337351	161	23388										
GALNT11	63917	hgsc.bcm.edu	37	chr7	151818708	151818708	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgggtcagaagggctctgtCgccatggcgatctgcgatgg	16	10	3	1	rs368113531		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr7:151818708C>T	ENST00000434507.1	+	14	2210	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	GALNT11_ENST00000430044.2_Silent_p.V591V|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.V510V|GALNT11_ENST00000320311.2_Silent_p.V591V			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	591	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V591V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGGCTCTGTCGCCATGGCGA	0.532																																					p.V591V		Atlas-SNP	.											GALNT11,NS,carcinoma,0,1	GALNT11	59	1	2	Substitution - coding silent(2)	lung(2)	c.C1773T						PASS	.	T		1,4405	2.1+/-5.4	0,1,2202	126	101	110		1773	-10.4	0	7		110	0,8600		0,0,4300	no	coding-synonymous	GALNT11	NM_022087.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		591/609	151818708	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63917	exon12			CTCTGTCGCCATG	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1773C>T	7.37:g.151818708C>T		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	165	49	0.29697	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	CCDS5930.1																																																																																			.	.	weak		0.532	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		T	151818708	C	T	151818708	2	4	35	1	0	0	0	0	0	0	0	1	6209	871	31	1		1	GALNT11	7	151818708	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3017396	151818708	7319955	162	23389										
CSMD1	64478	hgsc.bcm.edu	37	chr8	2966134	2966134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aatcaactgaccgtggaaatTgaggacaaagaagcctccat	9	9	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:2966134T>C	ENST00000520002.1	-	45	7303	c.6748A>G	c.(6748-6750)Aat>Gat	p.N2250D	CSMD1_ENST00000537824.1_Missense_Mutation_p.N2249D|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2249D|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2250D|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2250D|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2250D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2250	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTGGAAATTGAGGACAAAG	0.478																																					p.N2249D		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A6745G						PASS	.						71	71	71					8																	2966134		1938	4145	6083	SO:0001583	missense	64478	exon44			GGAAATTGAGGAC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6748A>G	8.37:g.2966134T>C	ENSP00000430733:p.Asn2250Asp	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	45	20	0.444444	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.32|10.32	1.317341|1.317341	0.23908|0.23908	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23|.	4.95|4.95	4.95|4.95	0.65309|0.65309	CUB (3);|.	0.127016|.	0.49916|.	D|.	0.000128|.	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.35854|0.35854	1.095|1.095	0.80722|0.80722	D|D	1|1	D;B;D|.	0.76494|.	0.992;0.012;0.999|.	D;B;D|.	0.85130|.	0.987;0.021;0.997|.	T|T	0.54516|0.54516	-0.8282|-0.8282	10|5	0.16420|.	T|.	0.52|.	.|.	14.8886|14.8886	0.70590|0.70590	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2250;2250;2249|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	D|R	2250;2250;2111;2249;2249|1729	ENSP00000383047:N2250D;ENSP00000430733:N2250D;ENSP00000441462:N2249D;ENSP00000446243:N2249D|.	ENSP00000320445:N2111D|.	N|Q	-|-	1|2	0|0	CSMD1|CSMD1	2953541|2953541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.184000|0.184000	0.23303|0.23303	4.667000|4.667000	0.61561|0.61561	1.971000|1.971000	0.57363|0.57363	0.472000|0.472000	0.43445|0.43445	AAT|CAA	.	.	none		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2966134	T	C	2966134	3	2	35	1	0	0	0	0	1	0	0	0	3944	1812	63	2	4057	2	CSMD1	8	2966134	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10		2966134	143397888	163	23390										
XPO7	23039	hgsc.bcm.edu	37	chr8	21856273	21856273	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctctctgctcaggtcccagCgactccagtttgatgtctct	9	14	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:21856273C>T	ENST00000252512.9	+	22	2453	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*	XPO7_ENST00000433566.4_Nonsense_Mutation_p.R786*|XPO7_ENST00000434536.1_Nonsense_Mutation_p.R794*	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	785					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGTCCCAGCGACTCCAGTT	0.478																																					p.R785X		Atlas-SNP	.											XPO7,NS,carcinoma,0,1	XPO7	79	1	0			c.C2353T						PASS	.						117	108	111					8																	21856273		1984	4183	6167	SO:0001587	stop_gained	23039	exon22			TCCCAGCGACTCC	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2353C>T	8.37:g.21856273C>T	ENSP00000252512:p.Arg785*	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	74	24	0.324324	NM_015024	O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	39	7.638127	0.98406	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566;ENST00000517551	.	.	.	5.95	4.07	0.47477	.	0.051284	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1099	14.1003	0.65051	0.5454:0.4546:0.0:0.0	.	.	.	.	X	794;785;786;95	.	ENSP00000252512:R785X	R	+	1	2	XPO7	21912219	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	0.895000	0.28363	0.757000	0.33036	0.655000	0.94253	CGA	.	.	none		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		T	21856273	C	T	21856273	4	4	35	1	0	0	0	0	0	1	0	0	17446	760	27	1	2491	1	XPO7	8	21856273	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	18890139	21856273	124507749	164	23391										
ASH2L	9070	hgsc.bcm.edu	37	chr8	37963905	37963905	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttatcttatagggaggcaaaCttggtcgatgtaagcggtgg	14	5	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:37963905C>G	ENST00000343823.6	+	2	507	c.198C>G	c.(196-198)aaC>aaG	p.N66K	ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR|ASH2L_ENST00000250635.7_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	66					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGGAGGCAAACTTGGTCGATG	0.368																																					p.N66K		Atlas-SNP	.											.	ASH2L	62	.	0			c.C198G						PASS	.						170	173	172					8																	37963905		2203	4300	6503	SO:0001583	missense	9070	exon2			GGCAAACTTGGTC	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.198C>G	8.37:g.37963905C>G	ENSP00000340896:p.Asn66Lys	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	130	16	0.123077	NM_004674	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325738	0.41197	.	.	ENSG00000129691	ENST00000343823	T	0.18174	2.23	5.99	2.1	0.27182	.	0.338836	0.35013	N	0.003507	T	0.07908	0.0198	N	0.08118	0	0.58432	D	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.22452	-1.0216	10	0.38643	T	0.18	.	8.2691	0.31833	0.0:0.588:0.0:0.412	.	66	Q9UBL3	ASH2L_HUMAN	K	66	ENSP00000340896:N66K	ENSP00000340896:N66K	N	+	3	2	ASH2L	38083062	0.003000	0.15002	0.906000	0.35671	0.074000	0.17049	-0.047000	0.11963	0.389000	0.25086	0.655000	0.94253	AAC	.	.	none		0.368	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		G	37963905	C	G	37963905	3	3	35	1	0	0	0	0	1	0	0	0	1042	564	20	4	204	4	ASH2L	8	37963905	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	16107632	37963905	108400117	165	23392										
SNTG1	54212	hgsc.bcm.edu	37	chr8	51705325	51705325	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggaccctctatttttaggcaAtcaagctactgcttctactg	7	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:51705325A>T	ENST00000522124.1	+	19	2151	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I	SNTG1_ENST00000517473.1_Missense_Mutation_p.N460I|SNTG1_ENST00000518864.1_Missense_Mutation_p.N497I|SNTG1_ENST00000276467.5_Missense_Mutation_p.N460I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	497					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTTTAGGCAATCAAGCTACT	0.418																																					p.N497I		Atlas-SNP	.											SNTG1_ENST00000518864,NS,carcinoma,-1,2	SNTG1	304	2	0			c.A1490T						scavenged	.						180	167	172					8																	51705325		2203	4300	6503	SO:0001583	missense	54212	exon19			TAGGCAATCAAGC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1490A>T	8.37:g.51705325A>T	ENSP00000429842:p.Asn497Ile	Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	366	6	0.0163934	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562069	0.45590	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.28895	1.59;1.59;2.26;2.26	5.56	-8.56	0.00904	.	0.246709	0.53938	D	0.000053	T	0.27384	0.0672	L	0.29908	0.895	0.27046	N	0.963887	P;B	0.39535	0.677;0.01	P;B	0.44518	0.452;0.026	T	0.35871	-0.9771	10	0.87932	D	0	-1.7108	23.2356	0.99981	0.1296:0.0:0.8704:0.0	.	460;497	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	497;497;460;460	ENSP00000429276:N497I;ENSP00000429842:N497I;ENSP00000431123:N460I;ENSP00000276467:N460I	ENSP00000276467:N460I	N	+	2	0	SNTG1	51867878	1.000000	0.71417	0.008000	0.14137	0.476000	0.33039	1.180000	0.32005	-1.754000	0.01321	-0.276000	0.10085	AAT	.	.	none		0.418	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51705325	A	T	51705325	3	4	35	1	0	0	0	0	1	0	0	0	14874	101	4	5	1556	5	SNTG1	8	51705325	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	13741420	51705325	94658697	166	23393										
OPRK1	4986	hgsc.bcm.edu	37	chr8	54147398	54147398	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agccagatgcagatattgatGatctttgccttcaagggtgt	11	7	2	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:54147398G>A	ENST00000265572.3	-	3	828	c.531C>T	c.(529-531)atC>atT	p.I177I	OPRK1_ENST00000524278.1_Silent_p.I88I|OPRK1_ENST00000520287.1_Silent_p.I177I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGATATTGATGATCTTTGCCT	0.517																																					p.I177I		Atlas-SNP	.											.	OPRK1	90	.	0			c.C531T						PASS	.						117	102	107					8																	54147398		2203	4300	6503	SO:0001819	synonymous_variant	4986	exon3			ATTGATGATCTTT		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.531C>T	8.37:g.54147398G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	85	20	0.235294	NM_000912	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			.	.	none		0.517	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54147398	G	A	54147398	2	1	35	1	0	0	0	0	0	0	0	1	10885	1280	45	2		2	OPRK1	8	54147398	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2442073	54147398	92216624	167	23394										
MYBL1	4603	hgsc.bcm.edu	37	chr8	67479124	67479124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agattacctcttgtttgcagCttttgtaagcaggttcatct	8	8	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:67479124C>T	ENST00000522677.3	-	13	2242	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	MYBL1_ENST00000517885.1_Missense_Mutation_p.S269N|MYBL1_ENST00000522419.1_5'UTR|MYBL1_ENST00000524176.2_Missense_Mutation_p.S611N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	611					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTGTTTGCAGCTTTTGTAAGC	0.348																																					p.S611N		Atlas-SNP	.											.	MYBL1	73	.	0			c.G1832A						PASS	.						117	104	108					8																	67479124		1804	4076	5880	SO:0001583	missense	4603	exon13			TTGCAGCTTTTGT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1832G>A	8.37:g.67479124C>T	ENSP00000429633:p.Ser611Asn	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	328	138	0.420732	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477707	0.26511	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.29142	1.58;1.58;1.58	5.48	3.69	0.42338	C-myb, C-terminal (1);	0.366974	0.34580	N	0.003860	T	0.21387	0.0515	L	0.34521	1.04	0.33887	D	0.636893	B;B;B	0.15930	0.015;0.005;0.015	B;B;B	0.18561	0.015;0.022;0.015	T	0.14671	-1.0464	10	0.46703	T	0.11	-0.9074	6.6436	0.22923	0.0:0.6574:0.1288:0.2137	.	611;610;611	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	N	611;269;611	ENSP00000429633:S611N;ENSP00000428265:S269N;ENSP00000428011:S611N	ENSP00000428265:S269N	S	-	2	0	MYBL1	67641678	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.830000	0.27462	0.674000	0.31244	-0.142000	0.14014	AGC	.	.	none		0.348	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		T	67479124	C	T	67479124	3	4	35	1	0	0	0	0	1	0	0	0	10009	797	28	2	442	2	MYBL1	8	67479124	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13331726	67479124	78884898	168	23395										
VCPIP1	80124	hgsc.bcm.edu	37	chr8	67577327	67577327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagtttcattgcaacatcgtAaacattactattcaaagatg	5	7	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:67577327A>T	ENST00000310421.4	-	1	2125	c.1867T>A	c.(1867-1869)Tac>Aac	p.Y623N	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	623					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCAACATCGTAAACATTACTA	0.383																																					p.Y623N	NSCLC(179;265 2915 6144 43644)	Atlas-SNP	.											.	VCPIP1	110	.	0			c.T1867A						PASS	.						120	124	123					8																	67577327		2203	4300	6503	SO:0001583	missense	80124	exon1			CATCGTAAACATT	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1867T>A	8.37:g.67577327A>T	ENSP00000309031:p.Tyr623Asn	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	180	76	0.422222	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132876	0.56828	.	.	ENSG00000175073	ENST00000310421	T	0.39997	1.05	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.64728	-0.6339	10	0.87932	D	0	-11.2244	15.7082	0.77602	1.0:0.0:0.0:0.0	.	623	Q96JH7	VCIP1_HUMAN	N	623	ENSP00000309031:Y623N	ENSP00000309031:Y623N	Y	-	1	0	VCPIP1	67739881	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.163000	0.67991	0.533000	0.62120	TAC	.	.	none		0.383	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			T	67577327	A	T	67577327	3	4	35	1	0	0	0	0	1	0	0	0	17138	362	13	5	1813	5	VCPIP1	8	67577327	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	98203	67577327	78786695	169	23396										
VCPIP1	80124	hgsc.bcm.edu	37	chr8	67577531	67577531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtctccatccaaatacacaaTagacccatctcctctgacct	3	16	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:67577531T>C	ENST00000310421.4	-	1	1921	c.1663A>G	c.(1663-1665)Att>Gtt	p.I555V	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	555					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAATACACAATAGACCCATCT	0.433																																					p.I555V	NSCLC(179;265 2915 6144 43644)	Atlas-SNP	.											.	VCPIP1	110	.	0			c.A1663G						PASS	.						188	165	173					8																	67577531		2203	4300	6503	SO:0001583	missense	80124	exon1			ACACAATAGACCC	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1663A>G	8.37:g.67577531T>C	ENSP00000309031:p.Ile555Val	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	158	76	0.481013	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.447137	0.01089	.	.	ENSG00000175073	ENST00000310421	T	0.28255	1.62	4.98	3.65	0.41850	.	0.057027	0.64402	D	0.000001	T	0.09992	0.0245	N	0.02391	-0.57	0.43390	D	0.995508	B	0.02656	0.0	B	0.01281	0.0	T	0.15665	-1.0429	10	0.17369	T	0.5	-12.0027	5.1154	0.14831	0.0:0.2193:0.0:0.7807	.	555	Q96JH7	VCIP1_HUMAN	V	555	ENSP00000309031:I555V	ENSP00000309031:I555V	I	-	1	0	VCPIP1	67740085	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.772000	0.47678	1.988000	0.58038	0.528000	0.53228	ATT	.	.	none		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			C	67577531	T	C	67577531	3	2	35	1	0	0	0	0	1	0	0	0	17138	1406	49	2	2017	2	VCPIP1	8	67577531	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	204	67577531	78786491	170	23397										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77616687	77616687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agatcagcgagttagaggacAgtgacgtggaaaatctaaca	12	6	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:77616687A>T	ENST00000521891.2	+	2	812	c.364A>T	c.(364-366)Agt>Tgt	p.S122C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S122C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S122C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S122C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	122					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)			GTTAGAGGACAGTGACGTGGA	0.483										HNSCC(33;0.089)																											p.S122C		Atlas-SNP	.											ZFHX4,colon,carcinoma,-1,1	ZFHX4	878	1	0			c.A364T						PASS	.						139	134	135					8																	77616687		1975	4171	6146	SO:0001583	missense	79776	exon2			GAGGACAGTGACG		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.364A>T	8.37:g.77616687A>T	ENSP00000430497:p.Ser122Cys	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	99	42	0.424242	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538749	0.65085	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.42	5.42	0.78866	.	0.000000	0.52532	U	0.000073	T	0.60157	0.2247	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.998	T	0.63808	-0.6553	10	0.72032	D	0.01	.	15.6293	0.76888	1.0:0.0:0.0:0.0	.	122;122;122;122	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	122	ENSP00000430497:S122C;ENSP00000399605:S122C;ENSP00000050961:S122C;ENSP00000428525:S122C;ENSP00000427775:S122C;ENSP00000427739:S122C;ENSP00000430848:S122C	ENSP00000050961:S122C	S	+	1	0	ZFHX4	77779242	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.106000	0.94253	2.276000	0.75962	0.528000	0.53228	AGT	.	.	none		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77616687	A	T	77616687	3	4	35	1	0	0	0	0	1	0	0	0	17632	188	7	5	366	5	ZFHX4	8	77616687	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	10039156	77616687	68747335	171	23398										
CA3	761	hgsc.bcm.edu	37	chr8	86352126	86352127	+	Frame_Shift_Ins	INS	-	-	A													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agttgtatttgatgatacttINSatgataggtcaagtaagtat							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:86352126_86352127insA	ENST00000285381.2	+	2	303_304	c.220_221insA	c.(220-222)tatfs	p.Y74fs	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	74					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TGATGATACTTATGATAGGTCA	0.411																																					p.Y74_D75delinsX		Pindel,Atlas-Indel	.											.	CA3	47	.	0			c.220_221insA						PASS	.																																			SO:0001589	frameshift_variant	761	exon2			.	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.221dupA	8.37:g.86352127_86352127dupA	ENSP00000285381:p.Tyr74fs	Somatic	29	.	.		WXS	Illumina HiSeq	Phase_I	52	18	0.346	NM_005181	B2R867|B3KUC8|O60842	Frame_Shift_Ins	INS	ENST00000285381.2	37	CCDS6238.1																																																																																			.	.	none		0.411	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		A	86352127	-	A	86352126	7	5	35	1	0	1	1	0	0	0	0	0	2517	1754	61	0	226	0	CA3	8	86352126	Frame_Shift_Ins	INS	-	TCGA-GS-A9TZ-01A-11D-A38X-10	8735439	86352126	60011896	172	23399										
OXR1	55074	hgsc.bcm.edu	37	chr8	107695483	107695483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagtttgatacaacacctaaCgaacttgttcaattaaataa	4	7	1	1	rs537961089		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:107695483C>T	ENST00000442977.2	+	4	462	c.363C>T	c.(361-363)aaC>aaT	p.N121N	OXR1_ENST00000531443.1_Silent_p.N120N|OXR1_ENST00000497705.1_Silent_p.N53N|OXR1_ENST00000445937.1_Silent_p.N120N|OXR1_ENST00000312046.6_Silent_p.N113N|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Silent_p.N120N	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	121					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAACACCTAACGAACTTGTTC	0.299																																					p.N121N		Atlas-SNP	.											.	OXR1	190	.	0			c.C363T						PASS	.						80	82	81					8																	107695483		2203	4293	6496	SO:0001819	synonymous_variant	55074	exon4			ACCTAACGAACTT	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.363C>T	8.37:g.107695483C>T		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	186	41	0.22043	NM_001198532	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028124	0.19512	.	.	ENSG00000164830	ENST00000517455	.	.	.	5.4	-4.2	0.03823	.	.	.	.	.	T	0.62539	0.2436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61466	-0.7057	4	.	.	.	-10.1915	13.5748	0.61868	0.0:0.472:0.0:0.528	.	.	.	.	M	37	.	.	T	+	2	0	OXR1	107764659	0.752000	0.28338	0.927000	0.36925	0.971000	0.66376	-0.143000	0.10296	-0.951000	0.03654	-0.350000	0.07774	ACG	.	.	none		0.299	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		T	107695483	C	T	107695483	2	4	35	1	0	0	0	0	0	0	0	1	11334	535	19	1		1	OXR1	8	107695483	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	21343357	107695483	38668539	173	23400										
PKHD1L1	93035	hgsc.bcm.edu	37	chr8	110535472	110535472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttttttttagggtaactgtgTatcagttggaattactgcac	9	5	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:110535472T>C	ENST00000378402.5	+	76	12445	c.12341T>C	c.(12340-12342)gTa>gCa	p.V4114A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4114					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTAACTGTGTATCAGTTGGA	0.313										HNSCC(38;0.096)																											p.V4114A		Atlas-SNP	.											.	PKHD1L1	522	.	0			c.T12341C						PASS	.						81	73	76					8																	110535472		1834	4082	5916	SO:0001583	missense	93035	exon76			ACTGTGTATCAGT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12341T>C	8.37:g.110535472T>C	ENSP00000367655:p.Val4114Ala	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	80	17	0.2125	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566189	0.65651	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.89617	-2.54;-2.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	M	0.76574	2.34	0.35150	D	0.769649	D	0.71674	0.998	D	0.66196	0.942	D	0.96101	0.9069	10	0.54805	T	0.06	.	13.8903	0.63736	0.0:0.0:0.0:1.0	.	4114	Q86WI1	PKHL1_HUMAN	A	4114;1042	ENSP00000367655:V4114A;ENSP00000437376:V1042A	ENSP00000367655:V4114A	V	+	2	0	PKHD1L1	110604648	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	6.141000	0.71744	2.167000	0.68274	0.528000	0.53228	GTA	.	.	none		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110535472	T	C	110535472	3	2	35	1	0	0	0	0	1	0	0	0	11972	1638	57	2	12643	2	PKHD1L1	8	110535472	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2839989	110535472	35828550	174	23401										
ZNF572	137209	hgsc.bcm.edu	37	chr8	125989683	125989683	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agatgttgtgaatgtgggaaGagttttggccttagctccca	13	6	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:125989683G>A	ENST00000319286.5	+	3	1327	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	391					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)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATGTGGGAAGAGTTTTGGCC	0.403										HNSCC(60;0.17)																											p.K391K		Atlas-SNP	.											ZNF572,parotid,carcinoma,+2,1	ZNF572	82	1	0			c.G1173A						PASS	.						96	91	93					8																	125989683		2203	4300	6503	SO:0001819	synonymous_variant	137209	exon3			TGGGAAGAGTTTT	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1173G>A	8.37:g.125989683G>A		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	115	56	0.486957	NM_152412	A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																			.	.	none		0.403	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		A	125989683	G	A	125989683	2	1	35	1	0	0	0	0	0	0	0	1	18001	933	33	2		2	ZNF572	8	125989683	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	15454211	125989683	20374339	175	23402										
EPPK1	83481	hgsc.bcm.edu	37	chr8	144942991	144942991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgccgcttgtcagcgccaacGtattcggagagcagcaggtc	13	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr8:144942991G>A	ENST00000525985.1	-	2	4502	c.4431C>T	c.(4429-4431)taC>taT	p.Y1477Y				P58107	EPIPL_HUMAN	epiplakin 1	1477						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCGCCAACGTATTCGGAGA	0.662																																					p.Y1477Y		Atlas-SNP	.											.	EPPK1	199	.	0			c.C4431T						PASS	.						29	33	32					8																	144942991		2189	4283	6472	SO:0001819	synonymous_variant	83481	exon1			GCCAACGTATTCG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4431C>T	8.37:g.144942991G>A		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	37	20	0.540541	NM_031308	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.	.	none		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144942991	G	A	144942991	2	1	35	1	0	0	0	0	0	0	0	1	5190	1140	40	1		1	EPPK1	8	144942991	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	18953308	144942991	1421031	176	23403										
PTPRD	5789	hgsc.bcm.edu	37	chr9	8504278	8504278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tacttgactgcatggttctaGctgatatttctgcagtagaa	9	7	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:8504278G>A	ENST00000381196.4	-	20	2348	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	PTPRD_ENST00000397611.3_Missense_Mutation_p.A599V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A592V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A602V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A602V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A602V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A589V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A599V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A592V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A589V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A602V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	602	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATGGTTCTAGCTGATATTTC	0.458										TSP Lung(15;0.13)																											p.A602V		Atlas-SNP	.											.	PTPRD	1348	.	0			c.C1805T						PASS	.						194	175	181					9																	8504278		2203	4300	6503	SO:0001583	missense	5789	exon12			GTTCTAGCTGATA	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1805C>T	9.37:g.8504278G>A	ENSP00000370593:p.Ala602Val	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	192	12	0.0625	NM_130392	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395997	0.25205	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.72;0.72;0.72;0.72;0.68;0.72;0.72	5.53	5.53	0.82687	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.16368	0.405	0.50171	D	0.999852	B;B;B;B;B;B;B;B;B	0.33212	0.01;0.029;0.402;0.104;0.022;0.041;0.073;0.047;0.02	B;B;B;B;B;B;B;B;B	0.33690	0.027;0.046;0.168;0.04;0.086;0.087;0.057;0.036;0.012	T	0.11012	-1.0605	9	.	.	.	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	592;596;602;602;599;599;589;602;602	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	602;602;589;589;602;592;599;599;602;602;602;592	ENSP00000370593:A602V;ENSP00000348812:A602V;ENSP00000353187:A589V;ENSP00000351293:A589V;ENSP00000347373:A602V;ENSP00000380741:A592V;ENSP00000380735:A599V;ENSP00000440515:A599V;ENSP00000438164:A602V;ENSP00000417093:A602V;ENSP00000380731:A592V	.	A	-	2	0	PTPRD	8494278	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.602000	0.87976	0.467000	0.42956	GCT	.	.	none		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8504278	G	A	8504278	3	1	35	1	0	0	0	0	1	0	0	0	12799	971	34	2	4097	2	PTPRD	9	8504278	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		8504278	132709153	177	23404										
TYRP1	7306	hgsc.bcm.edu	37	chr9	12702305	12702305	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccaattaggagaaatccagcTggaaatgtggccagaccaat	10	9	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:12702305T>A	ENST00000388918.5	+	5	1077	c.948T>A	c.(946-948)gcT>gcA	p.A316A	TYRP1_ENST00000381137.2_Silent_p.A26A|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.A26A	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	316					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GAAATCCAGCTGGAAATGTGG	0.448									Oculocutaneous Albinism																												p.A316A		Atlas-SNP	.											.	TYRP1	60	.	0			c.T948A						PASS	.						122	107	112					9																	12702305		2203	4300	6503	SO:0001819	synonymous_variant	7306	exon5	Familial Cancer Database		TCCAGCTGGAAAT	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.948T>A	9.37:g.12702305T>A		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	199	36	0.180905	NM_000550	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																			.	.	none		0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12702305	T	A	12702305	2	1	35	1	0	0	0	0	0	0	0	1	16813	1567	55	5		5	TYRP1	9	12702305	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	4198027	12702305	128511126	178	23405										
FREM1	158326	hgsc.bcm.edu	37	chr9	14750210	14750210	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagttcagaattacttcaaaGacctcatcatcttcctctaa	4	11	6	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:14750210G>T	ENST00000380880.3	-	30	6255	c.5472C>A	c.(5470-5472)gtC>gtA	p.V1824V	FREM1_ENST00000422223.2_Silent_p.V1824V|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380894.1_Silent_p.V360V|FREM1_ENST00000380881.4_Silent_p.V1825V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1824	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTACTTCAAAGACCTCATCAT	0.358																																					p.V1824V		Atlas-SNP	.											FREM1_ENST00000380894,NS,carcinoma,0,2	FREM1	261	2	0			c.C5472A						PASS	.						147	137	140					9																	14750210		1858	4092	5950	SO:0001819	synonymous_variant	158326	exon31			TTCAAAGACCTCA	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5472C>A	9.37:g.14750210G>T		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	277	17	0.0613718	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			.	.	none		0.358	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		T	14750210	G	T	14750210	2	4	35	1	0	0	0	0	0	0	0	1	6044	929	33	4		4	FREM1	9	14750210	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2047905	14750210	126463221	179	23406										
CNTLN	54875	hgsc.bcm.edu	37	chr9	17135148	17135148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccccacgtgttgggcggggaGctgaagtacacgcaatgcgc	15	12	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:17135148G>A	ENST00000380647.3	+	1	169	c.85G>A	c.(85-87)Gct>Act	p.A29T	CNTLN_ENST00000425824.1_Missense_Mutation_p.A29T|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Missense_Mutation_p.A29T|CNTLN_ENST00000380641.4_Missense_Mutation_p.A29T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	29					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGGGCGGGGAGCTGAAGTACA	0.677																																					p.A29T		Atlas-SNP	.											.	CNTLN	128	.	0			c.G85A						PASS	.						12	16	15					9																	17135148		1956	4128	6084	SO:0001583	missense	54875	exon1			CGGGGAGCTGAAG	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.85G>A	9.37:g.17135148G>A	ENSP00000370021:p.Ala29Thr	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	163	33	0.202454	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614003	0.66672	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.07	2.1	0.27182	.	.	.	.	.	T	0.11239	0.0274	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.20550	0.017;0.017;0.002;0.046	B;B;B;B	0.18871	0.005;0.005;0.002;0.023	T	0.26573	-1.0099	9	0.87932	D	0	.	7.3253	0.26551	0.0906:0.3251:0.5843:0.0	.	29;29;29;29	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	T	29	ENSP00000370021:A29T;ENSP00000392798:A29T;ENSP00000262360:A29T;ENSP00000370015:A29T	ENSP00000262360:A29T	A	+	1	0	CNTLN	17125148	0.188000	0.23250	0.014000	0.15608	0.985000	0.73830	0.310000	0.19356	0.217000	0.20800	-0.315000	0.08773	GCT	.	.	none		0.677	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17135148	G	A	17135148	3	1	35	1	0	0	0	0	1	0	0	0	3639	971	34	2	87	2	CNTLN	9	17135148	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2384938	17135148	124078283	180	23407										
C9orf24	84688	hgsc.bcm.edu	37	chr9	34379662	34379662	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acctaaggttcggatatgggTagtatgacggcgggggagtt	17	5	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:34379662T>A	ENST00000297623.2	-	6	969	c.771A>T	c.(769-771)ctA>ctT	p.L257L	KIAA1161_ENST00000297625.7_5'Flank|C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_Silent_p.L122L|C9orf24_ENST00000379124.1_Missense_Mutation_p.Y124F|C9orf24_ENST00000379126.3_Missense_Mutation_p.Y71F|C9orf24_ENST00000379127.1_Missense_Mutation_p.Y124F	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	257					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CGGATATGGGTAGTATGACGG	0.587											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y124F		Atlas-SNP	.											.	C9orf24	15	.	0			c.A371T						PASS	.						134	125	128					9																	34379662		2203	4300	6503	SO:0001819	synonymous_variant	84688	exon4			TATGGGTAGTATG	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.771A>T	9.37:g.34379662T>A		Somatic	96	0	0	847	WXS	Illumina HiSeq	Phase_I	128	30	0.234375	NM_001252195	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826730	0.50739	.	.	ENSG00000164972	ENST00000379126;ENST00000379127;ENST00000379112;ENST00000379124	T;T	0.52057	0.68;0.68	4.73	0.955	0.19602	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.20403	N	0.999906	B	0.11235	0.004	B	0.12837	0.008	T	0.19614	-1.0300	8	0.25106	T	0.35	-7.9938	3.6798	0.08306	0.1602:0.1789:0.0:0.661	.	71	Q8NCR6-3	.	F	71;124;54;124	ENSP00000368422:Y124F;ENSP00000368419:Y124F	ENSP00000368407:Y54F	Y	-	2	0	C9orf24	34369662	0.975000	0.34042	0.730000	0.30809	0.465000	0.32709	-0.176000	0.09811	0.060000	0.16281	-0.411000	0.06167	TAC	.	.	none		0.587	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		A	34379662	T	A	34379662	2	1	35	1	0	0	0	0	0	0	0	1	2475	1638	57	5		5	C9orf24	9	34379662	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	17244514	34379662	106833769	181	23408										
NPR2	4882	hgsc.bcm.edu	37	chr9	35792654	35792654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagtacctggcaccgctgagCgctgtggacctcaagctgta	13	12	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:35792654C>A	ENST00000342694.2	+	1	504	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	83					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACCGCTGAGCGCTGTGGACC	0.657																																					p.S83R		Atlas-SNP	.											.	NPR2	162	.	0			c.C249A						PASS	.						104	96	98					9																	35792654		2203	4300	6503	SO:0001583	missense	4882	exon1			GCTGAGCGCTGTG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.249C>A	9.37:g.35792654C>A	ENSP00000341083:p.Ser83Arg	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	134	36	0.268657	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	6.986	0.551947	0.13374	.	.	ENSG00000159899	ENST00000342694	D	0.83914	-1.78	3.93	1.05	0.20165	Extracellular ligand-binding receptor (1);	0.669254	0.13196	N	0.406396	T	0.65943	0.2740	N	0.24115	0.695	0.23972	N	0.996303	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.47169	-0.9138	10	0.13470	T	0.59	.	4.9576	0.14050	0.0:0.5488:0.1602:0.291	.	83;83	P20594-2;P20594	.;ANPRB_HUMAN	R	83	ENSP00000341083:S83R	ENSP00000341083:S83R	S	+	3	2	NPR2	35782654	0.011000	0.17503	1.000000	0.80357	0.976000	0.68499	-0.047000	0.11963	0.432000	0.26286	0.563000	0.77884	AGC	.	.	none		0.657	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			A	35792654	C	A	35792654	3	1	35	1	0	0	0	0	1	0	0	0	10595	767	27	4	251	4	NPR2	9	35792654	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1412992	35792654	105420777	182	23409										
FRMPD1	22844	hgsc.bcm.edu	37	chr9	37745741	37745741	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctaaccatgtgacagggcaaGatatagcccctagggacagc	11	11	0	2	rs62640014	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:37745741G>C	ENST00000539465.1	+	16	4305	c.3712G>C	c.(3712-3714)Gat>Cat	p.D1238H	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1238H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1238						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D1238Y(1)		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)		GACAGGGCAAGATATAGCCCC	0.522																																					p.D1238H		Atlas-SNP	.											FRMPD1,colon,carcinoma,-1,3	FRMPD1	237	3	1	Substitution - Missense(1)	ovary(1)	c.G3712C						PASS	.						82	82	82					9																	37745741		2203	4300	6503	SO:0001583	missense	22844	exon16			GGGCAAGATATAG	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.3712G>C	9.37:g.37745741G>C	ENSP00000444411:p.Asp1238His	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	91	18	0.197802	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068314	0.55539	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.09911	2.93;2.93	5.29	1.08	0.20341	.	0.978445	0.08425	N	0.947715	T	0.12518	0.0304	L	0.27053	0.805	0.09310	N	1	D	0.56968	0.978	P	0.54460	0.753	T	0.28681	-1.0036	10	0.48119	T	0.1	-1.2993	4.6247	0.12472	0.2747:0.1612:0.564:0.0	.	1238	Q5SYB0	FRPD1_HUMAN	H	1238	ENSP00000366995:D1238H;ENSP00000444411:D1238H	ENSP00000366995:D1238H	D	+	1	0	FRMPD1	37735741	0.091000	0.21658	0.001000	0.08648	0.113000	0.19764	1.983000	0.40648	0.641000	0.30601	0.556000	0.70494	GAT	G|0.998;T|0.002	.	alt		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		C	37745741	G	C	37745741	3	2	35	1	0	0	0	0	1	0	0	0	6057	942	33	4	3770	4	FRMPD1	9	37745741	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1953087	37745741	103467690	183	23410										
TMEM2	23670	hgsc.bcm.edu	37	chr9	74361164	74361164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cggtggcgtctgaggtcagaCggagcatatctccctccttg	13	12	3	2	rs200303233		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:74361164C>T	ENST00000377044.4	-	3	964	c.425G>A	c.(424-426)cGt>cAt	p.R142H	TMEM2_ENST00000377066.5_Missense_Mutation_p.R142H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	142	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGAGGTCAGACGGAGCATATC	0.463																																					p.R142H		Atlas-SNP	.											.	TMEM2	112	.	0			c.G425A						PASS	.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	157	143	148		425,425	4.5	1	9		148	0,8600		0,0,4300	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	142/1321,142/1384	74361164	1,13005	2203	4300	6503	SO:0001583	missense	23670	exon3			GTCAGACGGAGCA		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.425G>A	9.37:g.74361164C>T	ENSP00000366243:p.Arg142His	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	207	16	0.0772947	NM_001135820	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994358	0.74703	2.27E-4	0.0	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89050	-2.46;-2.46	5.4	4.5	0.54988	G8 domain (2);	0.097616	0.64402	D	0.000001	D	0.92506	0.7620	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.69479	0.964;0.884	D	0.92993	0.6416	10	0.72032	D	0.01	.	14.0641	0.64817	0.0:0.9271:0.0:0.0729	.	142;142	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	142	ENSP00000366243:R142H;ENSP00000366266:R142H	ENSP00000366243:R142H	R	-	2	0	TMEM2	73550984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.481000	0.66826	1.288000	0.44600	-0.142000	0.14014	CGT	C|0.999;T|0.001	0.001	weak		0.463	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74361164	C	T	74361164	3	4	35	1	0	0	0	0	1	0	0	0	16118	536	19	1	3814	1	TMEM2	9	74361164	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	36615423	74361164	66852267	184	23411										
FAM108B1	51104	hgsc.bcm.edu	37	chr9	74489813	74489813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acactcaatagcatctttttCtctagaagaatactgccagt	5	10	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:74489813C>G	ENST00000333421.6	-	2	295	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	ABHD17B_ENST00000377041.2_Missense_Mutation_p.E62Q	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	62						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCATCTTTTTCTCTAGAAGAA	0.413																																					p.E62Q		Atlas-SNP	.											.	FAM108B1	24	.	0			c.G184C						PASS	.						154	142	146					9																	74489813		2203	4300	6503	SO:0001583	missense	51104	exon2			CTTTTTCTCTAGA	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.184G>C	9.37:g.74489813C>G	ENSP00000330222:p.Glu62Gln	Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	222	45	0.202703	NM_016014	A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612627	0.66672	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.43294	0.95;0.95	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.77103	2.36	0.80722	D	1	B;D	0.55800	0.312;0.973	B;P	0.61275	0.175;0.886	T	0.67515	-0.5651	10	0.48119	T	0.1	6.6998	17.7372	0.88397	0.0:0.8776:0.1223:0.0	.	62;62	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Q	62	ENSP00000366240:E62Q;ENSP00000330222:E62Q	ENSP00000330222:E62Q	E	-	1	0	FAM108B1	73679633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.959000	0.70339	1.611000	0.50210	0.655000	0.94253	GAA	.	.	none		0.413	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		G	74489813	C	G	74489813	3	3	35	1	0	0	0	0	1	0	0	0	5392	922	32	4	725	4	FAM108B1	9	74489813	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	128649	74489813	66723618	185	23412										
C9orf41	138199	hgsc.bcm.edu	37	chr9	77632226	77632226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caatcattcacaatggtcagTagtatttcttgattatgatc	6	7	4	2	rs541125527		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:77632226T>C	ENST00000376834.3	-	2	521	c.369A>G	c.(367-369)ctA>ctG	p.L123L	C9orf41_ENST00000376830.3_Silent_p.L123L|C9orf41_ENST00000376837.3_Silent_p.L123L|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	123										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CAATGGTCAGTAGTATTTCTT	0.338																																					p.L123L		Atlas-SNP	.											.	C9orf41	57	.	0			c.A369G						PASS	.						127	116	120					9																	77632226		2203	4300	6503	SO:0001819	synonymous_variant	138199	exon2			GGTCAGTAGTATT	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.369A>G	9.37:g.77632226T>C		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	157	45	0.286624	NM_152420	Q7Z383|Q8N7C5	Silent	SNP	ENST00000376834.3	37	CCDS6649.1																																																																																			.	.	none		0.338	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		C	77632226	T	C	77632226	2	2	35	1	0	0	0	0	0	0	0	1	2482	1625	57	2		2	C9orf41	9	77632226	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	3142413	77632226	63581205	186	23413										
ZNF189	7743	hgsc.bcm.edu	37	chr9	104170419	104170419	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaaataccaagggaatctttGacccaggaacagagaatgtt	10	7	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:104170419G>A	ENST00000339664.2	+	3	498	c.369G>A	c.(367-369)ttG>ttA	p.L123L	ZNF189_ENST00000374861.3_Silent_p.L109L|ZNF189_ENST00000259395.4_Silent_p.L81L	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	123					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGAATCTTTGACCCAGGAAC	0.383																																					p.L123L		Atlas-SNP	.											.	ZNF189	79	.	0			c.G369A						PASS	.						67	65	66					9																	104170419		2203	4300	6503	SO:0001819	synonymous_variant	7743	exon3			ATCTTTGACCCAG	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.369G>A	9.37:g.104170419G>A		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	165	12	0.0727273	NM_003452	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	CCDS6754.1																																																																																			.	.	none		0.383	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		A	104170419	G	A	104170419	2	1	35	1	0	0	0	0	0	0	0	1	17751	1281	45	2		2	ZNF189	9	104170419	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	26538193	104170419	37043012	187	23414										
OR13C9	286362	hgsc.bcm.edu	37	chr9	107380179	107380179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtccccatggccaagccaaGgaacatctgcactgcacagc	9	15	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:107380179G>A	ENST00000259362.1	-	1	306	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCCAAGCCAAGGAACATCTGC	0.502																																					p.L103F		Atlas-SNP	.											.	OR13C9	42	.	0			c.C307T						PASS	.						118	136	130					9																	107380179		2203	4300	6503	SO:0001583	missense	286362	exon1			AGCCAAGGAACAT		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.307C>T	9.37:g.107380179G>A	ENSP00000259362:p.Leu103Phe	Somatic	319	0	0		WXS	Illumina HiSeq	Phase_I	361	168	0.465374	NM_001001956	Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459517	0.12342	.	.	ENSG00000136839	ENST00000259362	T	0.00307	8.17	4.64	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.338611	0.21256	N	0.077542	T	0.00073	0.0002	N	0.03967	-0.31	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.12837	-1.0532	10	0.25106	T	0.35	.	4.164	0.10298	0.1843:0.0:0.5256:0.2901	.	103	Q8NGT0	O13C9_HUMAN	F	103	ENSP00000259362:L103F	ENSP00000259362:L103F	L	-	1	0	OR13C9	106420000	0.000000	0.05858	0.964000	0.40570	0.797000	0.45037	0.461000	0.21940	0.575000	0.29434	0.637000	0.83480	CTT	.	.	none		0.502	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			A	107380179	G	A	107380179	3	1	35	1	0	0	0	0	1	0	0	0	10939	1000	35	2	652	2	OR13C9	9	107380179	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3209760	107380179	33833252	188	23415										
PAPPA	5069	hgsc.bcm.edu	37	chr9	119097230	119097230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctaccacagccaggcggtacGtgtgagcttcagttcgcccc	11	15	1	1	rs138956040	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:119097230G>A	ENST00000328252.3	+	13	3857	c.3488G>A	c.(3487-3489)cGt>cAt	p.R1163H	PAPPA_ENST00000534838.1_Missense_Mutation_p.R201H	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1163					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGGCGGTACGTGTGAGCTTC	0.622													G|||	4	0.000798722	0.0	0.0	5008	,	,		16541	0.004		0.0	False		,,,				2504	0.0				p.R1163H		Atlas-SNP	.											.	PAPPA	243	.	0			c.G3488A						PASS	.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114	93	100		3488	1.6	1	9	dbSNP_134	100	0,8600		0,0,4300	yes	missense	PAPPA	NM_002581.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1163/1628	119097230	1,13005	2203	4300	6503	SO:0001583	missense	5069	exon13			CGGTACGTGTGAG		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3488G>A	9.37:g.119097230G>A	ENSP00000330658:p.Arg1163His	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	11	0.122222	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610298	0.46527	2.27E-4	0.0	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03717	4.62;3.83	5.86	1.59	0.23543	.	0.220749	0.48767	N	0.000178	T	0.02304	0.0071	N	0.19112	0.55	0.27531	N	0.951088	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.37606	T	0.19	-8.6133	4.3967	0.11367	0.2709:0.0:0.4076:0.3215	.	201;1163	F5GZ19;Q13219	.;PAPP1_HUMAN	H	1163;201	ENSP00000330658:R1163H;ENSP00000441461:R201H	ENSP00000330658:R1163H	R	+	2	0	PAPPA	118137051	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	4.471000	0.60182	0.385000	0.24970	-0.137000	0.14449	CGT	G|1.000;A|0.000	0.000	weak		0.622	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	119097230	G	A	119097230	3	1	35	1	0	0	0	0	1	0	0	0	11432	1145	40	1	3538	1	PAPPA	9	119097230	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	11717051	119097230	22116201	189	23416										
TLR4	7099	hgsc.bcm.edu	37	chr9	120476234	120476234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagttgaacgaatggaatgtGcaacaccttcagataagcag	10	7	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:120476234G>T	ENST00000355622.6	+	3	1929	c.1828G>T	c.(1828-1830)Gca>Tca	p.A610S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A570S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	610	LRRCT.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AATGGAATGTGCAACACCTTC	0.463																																					p.A610S		Atlas-SNP	.											.	TLR4	220	.	0			c.G1828T						PASS	.						154	131	139					9																	120476234		2203	4300	6503	SO:0001583	missense	7099	exon3			GAATGTGCAACAC	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1828G>T	9.37:g.120476234G>T	ENSP00000363089:p.Ala610Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	86	20	0.232558	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	5.591	0.293758	0.10567	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.35421	1.58;1.31	6.02	-1.48	0.08745	Cysteine-rich flanking region, C-terminal (1);	1.168330	0.06040	N	0.654752	T	0.28699	0.0711	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32877	-0.9890	10	0.09084	T	0.74	.	8.608	0.33784	0.4529:0.1351:0.4121:0.0	.	610	O00206	TLR4_HUMAN	S	570;610	ENSP00000377997:A570S;ENSP00000363089:A610S	ENSP00000363089:A610S	A	+	1	0	TLR4	119516055	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.510000	0.06328	-0.155000	0.11098	0.650000	0.86243	GCA	.	.	none		0.463	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		T	120476234	G	T	120476234	3	4	35	1	0	0	0	0	1	0	0	0	15950	1319	46	4	1838	4	TLR4	9	120476234	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1379004	120476234	20737197	190	23417										
PHF19	26147	hgsc.bcm.edu	37	chr9	123632173	123632173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcagaaccaaggtgtgagcaGgggctggtcagcactgcccg	16	11	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:123632173G>A	ENST00000373896.3	-	5	667	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000312189.6_Silent_p.L139L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	139					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGTGAGCAGGGGCTGGTCA	0.652																																					p.L139L		Atlas-SNP	.											.	PHF19	47	.	0			c.C415T						PASS	.						36	30	32					9																	123632173		2199	4299	6498	SO:0001819	synonymous_variant	26147	exon5			TGAGCAGGGGCTG	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.415C>T	9.37:g.123632173G>A		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	57	9	0.157895	NM_015651	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	CCDS35116.1																																																																																			.	.	none		0.652	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		A	123632173	G	A	123632173	2	1	35	1	0	0	0	0	0	0	0	1	11829	991	35	2		2	PHF19	9	123632173	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3155939	123632173	17581258	191	23418										
NUP188	23511	hgsc.bcm.edu	37	chr9	131768932	131768932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctgatccagttggtgcaggCgtttgtccggcatatgcaaa	12	9	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:131768932C>T	ENST00000372577.2	+	44	5246	c.5225C>T	c.(5224-5226)gCg>gTg	p.A1742V	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1742					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTGGTGCAGGCGTTTGTCCGG	0.627											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1742V		Atlas-SNP	.											.	NUP188	140	.	0			c.C5225T						PASS	.						117	109	112					9																	131768932		2203	4300	6503	SO:0001583	missense	23511	exon44			TGCAGGCGTTTGT	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5225C>T	9.37:g.131768932C>T	ENSP00000361658:p.Ala1742Val	Somatic	59	0	0	1590	WXS	Illumina HiSeq	Phase_I	51	14	0.27451	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101219	0.76983	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.36340	1.26	5.22	5.22	0.72569	.	0.104805	0.64402	D	0.000004	T	0.56630	0.1998	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.58521	-0.7622	10	0.66056	D	0.02	-4.3736	17.7677	0.88483	0.0:1.0:0.0:0.0	.	1742	Q5SRE5	NU188_HUMAN	V	1631;1742	ENSP00000361658:A1742V	ENSP00000349125:A1631V	A	+	2	0	NUP188	130808753	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.263000	0.78421	2.423000	0.82170	0.561000	0.74099	GCG	.	.	none		0.627	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			T	131768932	C	T	131768932	3	4	35	1	0	0	0	0	1	0	0	0	10758	768	27	1	5399	1	NUP188	9	131768932	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	8136759	131768932	9444499	192	23419										
BAT2L1	84726	hgsc.bcm.edu	37	chr9	134319653	134319653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agctggagggcaggacaaggCtggcaaagaaaagggcgtct	17	7	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:134319653C>T	ENST00000357304.4	+	5	606	c.551C>T	c.(550-552)gCt>gTt	p.A184V	PRRC2B_ENST00000405995.1_Missense_Mutation_p.A184V|PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A184V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	184							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGACAAGGCTGGCAAAGAA	0.557																																					p.A184V		Atlas-SNP	.											.	PRRC2B	266	.	0			c.C551T						PASS	.						52	54	54					9																	134319653		2027	4190	6217	SO:0001583	missense	84726	exon5			ACAAGGCTGGCAA	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.551C>T	9.37:g.134319653C>T	ENSP00000349856:p.Ala184Val	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	52	18	0.346154	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863201	0.71949	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.27256	1.68;1.68;1.68	5.54	4.53	0.55603	BAT2, N-terminal (1);	0.190217	0.24359	U	0.039207	T	0.15046	0.0363	N	0.20401	0.57	0.80722	D	1	B	0.17038	0.02	B	0.20184	0.028	T	0.08269	-1.0730	10	0.30078	T	0.28	-32.5767	7.4546	0.27258	0.0:0.8271:0.0:0.1729	.	184	Q5JSZ5	PRC2B_HUMAN	V	184	ENSP00000384606:A184V;ENSP00000349856:A184V;ENSP00000398853:A184V	ENSP00000349856:A184V	A	+	2	0	PRRC2B	133309474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.821000	0.39041	2.618000	0.88619	0.462000	0.41574	GCT	.	.	none		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	134319653	C	T	134319653	3	4	35	1	0	0	0	0	1	0	0	0	1320	797	28	2	569	2	BAT2L1	9	134319653	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2550721	134319653	6893778	193	23420										
AGPAT2	10555	hgsc.bcm.edu	37	chr9	139568309	139568309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcccggtggcaggtgtccacGagcgcagggacgtccgccgc	17	15	0	0	rs200288462		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:139568309G>A	ENST00000371696.2	-	6	797	c.732C>T	c.(730-732)ctC>ctT	p.L244L	AGPAT2_ENST00000371694.3_Silent_p.L212L|AGPAT2_ENST00000538402.1_Silent_p.L244L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	244					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGGTGTCCACGAGCGCAGGGA	0.682																																					p.L244L		Atlas-SNP	.											.	AGPAT2	17	.	0			c.C732T						PASS	.	G	,	0,4388		0,0,2194	41	41	41		636,732	-6.7	0	9		41	3,8587		0,3,4292	no	coding-synonymous,coding-synonymous	AGPAT2	NM_001012727.1,NM_006412.3	,	0,3,6486	AA,AG,GG		0.0349,0.0,0.0231	,	212/247,244/279	139568309	3,12975	2194	4295	6489	SO:0001819	synonymous_variant	10555	exon6			GTCCACGAGCGCA	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.732C>T	9.37:g.139568309G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	71	25	0.352113	NM_006412	O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	CCDS7003.1																																																																																			G|0.997;A|0.003	0.003	weak		0.682	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		A	139568309	G	A	139568309	2	1	35	1	0	0	0	0	0	0	0	1	387	1045	37	1		1	AGPAT2	9	139568309	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	5248656	139568309	1645122	194	23421										
ABCA2	20	hgsc.bcm.edu	37	chr9	139909868	139909869	+	Frame_Shift_Ins	INS	-	-	G													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcagcttcaacacagaccttINSgggggccccccggctcggcg							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr9:139909868_139909869insG	ENST00000371605.3	-	23	3838_3839	c.3691_3692insC	c.(3691-3693)caafs	p.Q1231fs	ABCA2_ENST00000341511.6_Frame_Shift_Ins_p.Q1232fs|ABCA2_ENST00000265662.5_Frame_Shift_Ins_p.Q1232fs|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1231					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACACAGACCTTGGGGGCCCCCC	0.678																																					p.Q1262fs		Atlas-Indel	.											.	ABCA2	113	.	0			c.3785_3786insC						PASS	.																																			SO:0001589	frameshift_variant	20	exon24			.	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3692dupC	9.37:g.139909873_139909873dupG	ENSP00000360666:p.Gln1231fs	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	47	10	0.212766	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Frame_Shift_Ins	INS	ENST00000371605.3	37																																																																																				.	.	none		0.678	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		G	139909869	-	G	139909868	7	5	35	1	0	1	1	0	0	0	0	0	32	1812	63	0	3719	0	ABCA2	9	139909868	Frame_Shift_Ins	INS	-	TCGA-GS-A9TZ-01A-11D-A38X-10	341559	139909868	1303563	195	23422										
MCM10	55388	hgsc.bcm.edu	37	chr10	13222489	13222489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaacaagaaaatgaccggccGaaaactgatcagactgtctc	9	10	2	4	rs556697001		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:13222489G>A	ENST00000484800.2	+	7	918	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MCM10_ENST00000378714.3_Missense_Mutation_p.R271Q|MCM10_ENST00000378694.1_Missense_Mutation_p.R271Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	272	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ATGACCGGCCGAAAACTGATC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16663	0.0		0.0	False		,,,				2504	0.001				p.R272Q		Atlas-SNP	.											.	MCM10	76	.	0			c.G815A						PASS	.						110	107	108					10																	13222489		2203	4300	6503	SO:0001583	missense	55388	exon7			CCGGCCGAAAACT	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.815G>A	10.37:g.13222489G>A	ENSP00000418268:p.Arg272Gln	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	106	15	0.141509	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892283	0.97074	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.17370	2.29;2.3;2.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.994	T	0.54022	-0.8355	10	0.48119	T	0.1	-24.3162	20.0953	0.97838	0.0:0.0:1.0:0.0	.	271;271;272	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Q	271;272;272;271	ENSP00000367986:R271Q;ENSP00000418268:R272Q;ENSP00000367966:R271Q	ENSP00000354945:R272Q	R	+	2	0	MCM10	13262495	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.236000	0.95360	2.767000	0.95098	0.655000	0.94253	CGA	.	.	none		0.413	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		A	13222489	G	A	13222489	3	1	35	1	0	0	0	0	1	0	0	0	9385	1058	37	1	837	1	MCM10	10	13222489	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		13222489	122312258	196	23423										
CUBN	8029	hgsc.bcm.edu	37	chr10	16967409	16967409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagggtggagaacagatatcAggaccatttcttagctggaa	12	6	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:16967409A>G	ENST00000377833.4	-	43	6542	c.6477T>C	c.(6475-6477)ccT>ccC	p.P2159P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2159	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACAGATATCAGGACCATTTC	0.408																																					p.P2159P		Atlas-SNP	.											CUBN,NS,carcinoma,0,1	CUBN	515	1	0			c.T6477C						scavenged	.						46	47	47					10																	16967409		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon43			GATATCAGGACCA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6477T>C	10.37:g.16967409A>G		Somatic	245	1	0.00408163		WXS	Illumina HiSeq	Phase_I	193	26	0.134715	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			.	.	none		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16967409	A	G	16967409	2	3	35	1	0	0	0	0	0	0	0	1	4051	175	7	3		3	CUBN	10	16967409	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	3744920	16967409	118567338	197	23424										
SVIL	6840	hgsc.bcm.edu	37	chr10	29751241	29751241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcgatgtcctctctgtgctCccagctgggaaacatattgg	11	11	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:29751241C>G	ENST00000355867.4	-	36	7119	c.6367G>C	c.(6367-6369)Gag>Cag	p.E2123Q	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1697Q|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.E2123Q|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E1037Q	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2123					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTGTGCTCCCAGCTGGGA	0.502																																					p.E2123Q		Atlas-SNP	.											.	SVIL	226	.	0			c.G6367C						PASS	.						143	136	139					10																	29751241		2203	4300	6503	SO:0001583	missense	6840	exon36			TGTGCTCCCAGCT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6367G>C	10.37:g.29751241C>G	ENSP00000348128:p.Glu2123Gln	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	109	29	0.266055	NM_021738	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908113	0.92107	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.14391	2.63;2.65;2.65;2.51	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.62723	1.935	0.80722	D	1	D;P;P	0.76494	0.999;0.5;0.865	D;B;P	0.76071	0.987;0.336;0.594	T	0.14811	-1.0459	10	0.72032	D	0.01	-23.7608	17.4772	0.87662	0.0:1.0:0.0:0.0	.	1037;1697;2123	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	Q	1697;2123;2123;1037	ENSP00000364549:E1697Q;ENSP00000364547:E2123Q;ENSP00000348128:E2123Q;ENSP00000445472:E1037Q	ENSP00000348128:E2123Q	E	-	1	0	SVIL	29791247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.339000	0.79563	0.561000	0.74099	GAG	.	.	none		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29751241	C	G	29751241	3	3	35	1	0	0	0	0	1	0	0	0	15418	864	30	4	289	4	SVIL	10	29751241	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12783832	29751241	105783506	198	23425										
PARD3	56288	hgsc.bcm.edu	37	chr10	34648142	34648142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcgtttattgccttcagtaGacatagaccttcttagggtt	8	9	2	2	rs142553947		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:34648142G>C	ENST00000374789.3	-	14	2325	c.2000C>G	c.(1999-2001)tCt>tGt	p.S667C	PARD3_ENST00000374794.3_Missense_Mutation_p.S610C|PARD3_ENST00000350537.4_Missense_Mutation_p.S654C|PARD3_ENST00000346874.4_Missense_Mutation_p.S667C|PARD3_ENST00000545693.1_Missense_Mutation_p.S654C|PARD3_ENST00000544292.1_Missense_Mutation_p.S384C|PARD3_ENST00000374776.1_Missense_Mutation_p.S654C|PARD3_ENST00000374768.1_Missense_Mutation_p.S105C|PARD3_ENST00000545260.1_Missense_Mutation_p.S610C|PARD3_ENST00000374790.3_Missense_Mutation_p.S610C|PARD3_ENST00000340077.5_Missense_Mutation_p.S667C|PARD3_ENST00000374773.1_Missense_Mutation_p.S667C|PARD3_ENST00000374788.3_Missense_Mutation_p.S667C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	667	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCTTCAGTAGACATAGACCT	0.413																																					p.S667C		Atlas-SNP	.											.	PARD3	131	.	0			c.C2000G						PASS	.						213	195	201					10																	34648142		2203	4300	6503	SO:0001583	missense	56288	exon14			TCAGTAGACATAG	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2000C>G	10.37:g.34648142G>C	ENSP00000363921:p.Ser667Cys	Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	290	69	0.237931	NM_001184792	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659053	0.88154	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.74	5.74	0.90152	PDZ/DHR/GLGF (2);	0.102934	0.64402	D	0.000001	T	0.52058	0.1711	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.998;1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.984;0.996;0.997;0.996;0.998;0.998;0.972;0.955;0.998;0.999;0.989;0.954;0.999;0.989	T	0.58983	-0.7539	10	0.87932	D	0	.	19.9192	0.97079	0.0:0.0:1.0:0.0	.	610;610;654;654;654;667;667;667;610;654;667;667;654;667;384	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	654;610;667;667;667;610;654;610;654;667;667;384;105	ENSP00000443147:S654C;ENSP00000440857:S610C;ENSP00000363921:S667C;ENSP00000363920:S667C;ENSP00000340591:S667C;ENSP00000363926:S610C;ENSP00000311986:S654C;ENSP00000363922:S610C;ENSP00000363908:S654C;ENSP00000341844:S667C;ENSP00000363905:S667C;ENSP00000444429:S384C;ENSP00000363900:S105C	ENSP00000341844:S667C	S	-	2	0	PARD3	34688148	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	TCT	G|1.000;C|0.000	0.000	weak		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		C	34648142	G	C	34648142	3	2	35	1	0	0	0	0	1	0	0	0	11443	942	33	4	2153	4	PARD3	10	34648142	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4896901	34648142	100886605	199	23426										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55782695	55782695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cagctggcaaattctcttcaAcaaggacagtgtatgttgaa	9	8	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:55782695A>G	ENST00000320301.6	-	19	2877	c.2483T>C	c.(2482-2484)gTt>gCt	p.V828A	PCDH15_ENST00000395432.2_Missense_Mutation_p.V791A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V828A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V439A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V835A|PCDH15_ENST00000361849.3_Missense_Mutation_p.V828A|PCDH15_ENST00000414778.1_Missense_Mutation_p.V833A|PCDH15_ENST00000373965.2_Missense_Mutation_p.V835A|PCDH15_ENST00000437009.1_Missense_Mutation_p.V757A|PCDH15_ENST00000373955.1_Missense_Mutation_p.V828A|PCDH15_ENST00000395438.1_Missense_Mutation_p.V828A|PCDH15_ENST00000395433.1_Missense_Mutation_p.V806A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	828	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCTCTTCAACAAGGACAGT	0.413										HNSCC(58;0.16)																											p.V833A		Atlas-SNP	.											.	PCDH15	1715	.	0			c.T2498C						PASS	.						167	151	157					10																	55782695		2203	4300	6503	SO:0001583	missense	65217	exon20			TCTTCAACAAGGA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2483T>C	10.37:g.55782695A>G	ENSP00000322604:p.Val828Ala	Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	165	42	0.254545	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676898	0.67928	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73690	0.3619	M	0.81614	2.55	0.58432	D	0.999998	D;D;D;P;D;D;D;P;D;D;D;P;P;D	0.69078	0.992;0.997;0.997;0.873;0.996;0.993;0.967;0.932;0.975;0.986;0.975;0.605;0.917;0.986	D;D;D;P;D;D;P;P;P;D;P;B;P;D	0.72075	0.944;0.957;0.976;0.846;0.973;0.963;0.901;0.717;0.858;0.932;0.734;0.257;0.539;0.932	T	0.78006	-0.2373	9	0.87932	D	0	.	15.5913	0.76530	1.0:0.0:0.0:0.0	.	806;828;828;833;757;791;828;828;835;835;828;833;828;828	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	835;833;828;828;439;835;791;828;806;828;828;833;757;828	ENSP00000363076:V835A;ENSP00000410304:V833A;ENSP00000378826:V828A;ENSP00000386693:V439A;ENSP00000378832:V835A;ENSP00000378820:V791A;ENSP00000354950:V828A;ENSP00000378821:V806A;ENSP00000322604:V828A;ENSP00000378818:V828A;ENSP00000412628:V757A;ENSP00000363066:V828A	ENSP00000322604:V828A	V	-	2	0	PCDH15	55452701	1.000000	0.71417	0.991000	0.47740	0.361000	0.29550	9.287000	0.95975	2.225000	0.72522	0.477000	0.44152	GTT	.	.	none		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55782695	A	G	55782695	3	3	35	1	0	0	0	0	1	0	0	0	11511	43	2	2	5063	2	PCDH15	10	55782695	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	21134553	55782695	79752052	200	23427										
PCDH15	65217	hgsc.bcm.edu	37	chr10	55943228	55943228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgacactgtccccaggtctCatgtctgtataaacatacac	6	12	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:55943228C>T	ENST00000320301.6	-	13	1960	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000373965.2_Missense_Mutation_p.M529I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCAGGTCTCATGTCTGTAT	0.378										HNSCC(58;0.16)																											p.M527I		Atlas-SNP	.											.	PCDH15	1715	.	0			c.G1581A						PASS	.						225	197	207					10																	55943228		2203	4300	6503	SO:0001583	missense	65217	exon14			AGGTCTCATGTCT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1566G>A	10.37:g.55943228C>T	ENSP00000322604:p.Met522Ile	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	128	32	0.25	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727702	0.30593	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45196	0.1330	L	0.31476	0.935	0.80722	D	1	P;B;B;B;P;P;P;B;B;B;B;B;B;B;B	0.43024	0.771;0.333;0.392;0.392;0.798;0.592;0.771;0.099;0.182;0.182;0.044;0.099;0.028;0.094;0.333	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.48334	0.574;0.241;0.173;0.348;0.326;0.241;0.574;0.085;0.241;0.173;0.101;0.058;0.03;0.05;0.241	T	0.42582	-0.9443	9	0.56958	D	0.05	.	12.7668	0.57396	0.1643:0.8357:0.0:0.0	.	500;522;522;527;522;485;522;522;529;529;522;527;522;500;522	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	529;527;522;522;133;529;522;485;522;500;500;522;522;527;522;522	ENSP00000363076:M529I;ENSP00000410304:M527I;ENSP00000378826:M522I;ENSP00000386693:M133I;ENSP00000378832:M529I;ENSP00000378833:M522I;ENSP00000378820:M485I;ENSP00000354950:M522I;ENSP00000378821:M500I;ENSP00000363068:M500I;ENSP00000322604:M522I;ENSP00000378818:M522I;ENSP00000412628:M522I;ENSP00000363066:M522I	ENSP00000322604:M522I	M	-	3	0	PCDH15	55613234	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	5.624000	0.67764	2.546000	0.85860	0.655000	0.94253	ATG	.	.	none		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55943228	C	T	55943228	3	4	35	1	0	0	0	0	1	0	0	0	11511	826	29	2	6004	2	PCDH15	10	55943228	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	160533	55943228	79591519	201	23428										
ARID5B	84159	hgsc.bcm.edu	37	chr10	63662068	63662068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgatttgcatagcggagctcCagctgttgtgggaagagagg	16	7	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:63662068C>T	ENST00000279873.7	+	2	582	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	58					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGCGGAGCTCCAGCTGTTGTG	0.473																																					p.Q58X		Atlas-SNP	.											.	ARID5B	125	.	0			c.C172T						PASS	.						70	75	73					10																	63662068		2203	4300	6503	SO:0001587	stop_gained	84159	exon2			GAGCTCCAGCTGT	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.172C>T	10.37:g.63662068C>T	ENSP00000279873:p.Gln58*	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	117	18	0.153846	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	41	8.590846	0.98877	.	.	ENSG00000150347	ENST00000279873	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.6758	18.7313	0.91736	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000279873:Q58X	Q	+	1	0	ARID5B	63332074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.006000	0.63978	2.716000	0.92895	0.655000	0.94253	CAG	.	.	none		0.473	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63662068	C	T	63662068	4	4	35	1	0	0	0	0	0	1	0	0	922	595	21	2	178	2	ARID5B	10	63662068	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7718840	63662068	71872679	202	23429										
EGR2	1959	hgsc.bcm.edu	37	chr10	64575715	64575715	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcgaggtcctccaccgggtaGatgttgtcagacagctggtg	15	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:64575715G>A	ENST00000242480.3	-	1	400	c.75C>T	c.(73-75)atC>atT	p.I25I	EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000439032.1_Silent_p.I25I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCACCGGGTAGATGTTGTCAG	0.577																																					p.I25I		Atlas-SNP	.											EGR2,NS,carcinoma,-1,1	EGR2	77	1	0			c.C75T						scavenged	.						191	172	178					10																	64575715		2203	4300	6503	SO:0001819	synonymous_variant	1959	exon1			CGGGTAGATGTTG	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.75C>T	10.37:g.64575715G>A		Somatic	73	2	0.0273973		WXS	Illumina HiSeq	Phase_I	63	18	0.285714	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	CCDS7267.1																																																																																			.	.	none		0.577	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		A	64575715	G	A	64575715	2	1	35	1	0	0	0	0	0	0	0	1	4972	932	33	2		2	EGR2	10	64575715	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	913647	64575715	70959032	203	23430										
HERC4	26091	hgsc.bcm.edu	37	chr10	69695935	69695935	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgtttgttaacagctgtgtCtgcaccatttagaaccagct	8	9	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:69695935C>G	ENST00000395198.3	-	23	2900	c.2653G>C	c.(2653-2655)Gac>Cac	p.D885H	HERC4_ENST00000277817.6_Missense_Mutation_p.D775H|HERC4_ENST00000373700.4_Missense_Mutation_p.D877H|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.D807H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACAGCTGTGTCTGCACCATTT	0.338																																					p.D885H		Atlas-SNP	.											.	HERC4	78	.	0			c.G2653C						PASS	.						181	169	173					10																	69695935		2203	4299	6502	SO:0001583	missense	26091	exon23			CTGTGTCTGCACC	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2653G>C	10.37:g.69695935C>G	ENSP00000378624:p.Asp885His	Somatic	267	0	0		WXS	Illumina HiSeq	Phase_I	188	49	0.260638	NM_022079	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506093	0.44558	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.2	5.2	0.72013	HECT (4);	0.293542	0.41097	D	0.000954	T	0.48003	0.1476	L	0.39514	1.22	0.80722	D	1	B;B;B;B;B	0.24963	0.115;0.005;0.007;0.003;0.007	B;B;B;B;B	0.34779	0.189;0.008;0.021;0.012;0.021	T	0.43893	-0.9363	10	0.46703	T	0.11	.	19.1052	0.93291	0.0:1.0:0.0:0.0	.	807;775;735;877;885	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	H	775;807;885;877	ENSP00000277817:D775H;ENSP00000416504:D807H;ENSP00000378624:D885H;ENSP00000362804:D877H	ENSP00000277817:D775H	D	-	1	0	HERC4	69365941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.779000	0.47734	2.568000	0.86640	0.460000	0.39030	GAC	.	.	none		0.338	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		G	69695935	C	G	69695935	3	3	35	1	0	0	0	0	1	0	0	0	7060	913	32	4	536	4	HERC4	10	69695935	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5120220	69695935	65838812	204	23431										
AP3M1	26985	hgsc.bcm.edu	37	chr10	75896531	75896531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tatgaccacattatccttaaTtgcagcctctgaacactcac	4	13	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:75896531T>C	ENST00000355264.4	-	3	615	c.304A>G	c.(304-306)Att>Gtt	p.I102V	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.I102V	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	102					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TTATCCTTAATTGCAGCCTCT	0.348																																					p.I102V		Atlas-SNP	.											.	AP3M1	28	.	0			c.A304G						PASS	.						105	97	100					10																	75896531		2203	4300	6503	SO:0001583	missense	26985	exon4			CCTTAATTGCAGC	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.304A>G	10.37:g.75896531T>C	ENSP00000347408:p.Ile102Val	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	141	48	0.340426	NM_207012	Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134462	0.56828	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.81739	-1.53;-1.53	5.88	4.75	0.60458	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	L	0.52823	1.66	0.58432	D	0.999999	B	0.20550	0.046	B	0.30495	0.116	T	0.71859	-0.4465	10	0.36615	T	0.2	.	11.7276	0.51718	0.0:0.0685:0.0:0.9315	.	102	Q9Y2T2	AP3M1_HUMAN	V	102	ENSP00000347408:I102V;ENSP00000361831:I102V	ENSP00000347408:I102V	I	-	1	0	AP3M1	75566537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.755000	0.62198	1.060000	0.40578	0.533000	0.62120	ATT	.	.	none		0.348	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			C	75896531	T	C	75896531	3	2	35	1	0	0	0	0	1	0	0	0	747	1493	52	2	980	2	AP3M1	10	75896531	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	6200596	75896531	59638216	205	23432										
SFTPA1	653509	hgsc.bcm.edu	37	chr10	81373777	81373777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	accgaggggagcccgcaggtCggggaaaagagcagtgtgtg	19	8	0	1	rs4253527	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:81373777C>T	ENST00000398636.3	+	6	793	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	SFTPA1_ENST00000428376.2_Missense_Mutation_p.R219W|SFTPA1_ENST00000372308.3_Missense_Mutation_p.R219W|SFTPA1_ENST00000372313.5_Missense_Mutation_p.R160W|SFTPA1_ENST00000419470.2_Missense_Mutation_p.R234W	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	219	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527). {ECO:0000269|PubMed:13680361, ECO:0000269|PubMed:19100526, ECO:0000269|PubMed:20693318, ECO:0000269|Ref.5}.		lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCCCGCAGGTCGGGGAAAAGA	0.567													c|||	577	0.115216	0.0779	0.1052	5008	,	,		19579	0.244		0.0934	False		,,,				2504	0.0624				p.R234W		Atlas-SNP	.											.	SFTPA1	23	.	0			c.C700T	GRCh37	CM033026	SFTPA1	M	rs4253527	PASS	.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	353,4053		14,325,1864	182	177	179	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	700,655,553,508,655,655	1.9	0	10	dbSNP_111	179	746,7846		34,678,3584	no	missense,missense,missense,missense,missense,missense	SFTPA1	NM_001093770.2,NM_001164644.1,NM_001164645.1,NM_001164646.1,NM_001164647.1,NM_005411.4	101,101,101,101,101,101	48,1003,5448	TT,TC,CC		8.6825,8.0118,8.4551	benign,benign,benign,benign,benign,benign	234/264,219/249,185/215,170/200,219/249,219/249	81373777	1099,11899	2203	4296	6499	SO:0001583	missense	653509	exon6			GCAGGTCGGGGAA	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.655C>T	10.37:g.81373777C>T	ENSP00000381633:p.Arg219Trp	Somatic	420	0	0		WXS	Illumina HiSeq	Phase_I	328	45	0.137195	NM_001093770	A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	CCDS44445.1	284	0.13003663003663005	33	0.06707317073170732	37	0.10220994475138122	140	0.24475524475524477	74	0.09762532981530343	.	1.011	-0.687855	0.03328	0.080118	0.086825	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	2.89	1.94	0.25998	C-type lectin fold (2);C-type lectin-like (2);C-type lectin (6);	1.014370	0.07895	N	0.971754	T	0.00012	0.0000	L	0.52266	1.64	0.80722	P	0.0	B;B;B	0.18310	0.026;0.027;0.026	B;B;B	0.12156	0.007;0.006;0.007	T	0.25012	-1.0144	9	0.49607	T	0.09	-0.026	7.4659	0.27322	0.4692:0.5308:0.0:0.0	.	219;234;219	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	W	219;219;219;160;234;219	ENSP00000361382:R219W;ENSP00000381633:R219W;ENSP00000411102:R219W;ENSP00000361387:R160W;ENSP00000397082:R234W	ENSP00000361382:R219W	R	+	1	2	SFTPA1	81043783	0.003000	0.15002	0.013000	0.15412	0.028000	0.11728	0.051000	0.14141	0.741000	0.32674	0.297000	0.19635	CGG	C|0.901;T|0.099	0.099	strong		0.567	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		T	81373777	C	T	81373777	3	4	35	1	0	0	0	0	1	0	0	0	14189	875	31	1	718	1	SFTPA1	10	81373777	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5477246	81373777	54160970	206	23433										
FAM35A	54537	hgsc.bcm.edu	37	chr10	88939926	88939926	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctcacagttctctgaagagTattttttcttctcttcccaa	5	11	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:88939926T>G	ENST00000298784.1	+	7	2172	c.2058T>G	c.(2056-2058)agT>agG	p.S686R	FAM35A_ENST00000298786.4_Missense_Mutation_p.S755R	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	686										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTCTGAAGAGTATTTTTTCTT	0.388																																					p.S686R	Ovarian(175;703 2004 25460 32514 43441)	Atlas-SNP	.											FAM35A,NS,carcinoma,+1,1	FAM35A	48	1	0			c.T2058G						scavenged	.						75	75	75					10																	88939926		2203	4300	6503	SO:0001583	missense	54537	exon7			GAAGAGTATTTTT	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2058T>G	10.37:g.88939926T>G	ENSP00000298784:p.Ser686Arg	Somatic	454	2	0.00440529		WXS	Illumina HiSeq	Phase_I	406	112	0.275862	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.059|6.059	0.379258|0.379258	0.11466|0.11466	.|.	.|.	ENSG00000122376|ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313|ENST00000342900	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	2.87|2.87	-2.2|-2.2	0.06994|0.06994	.|.	0.554910|.	0.20762|.	N|.	0.086141|.	T|T	0.37652|0.37652	0.1011|0.1011	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	B;P|.	0.48016|.	0.001;0.904|.	B;P|.	0.46718|.	0.001;0.525|.	T|T	0.37865|0.37865	-0.9687|-0.9687	10|5	0.29301|.	T|.	0.29|.	-0.2296|-0.2296	3.8924|3.8924	0.09125|0.09125	0.0:0.2922:0.1808:0.527|0.0:0.2922:0.1808:0.527	.|.	409;686|.	Q5VSZ0;Q86V20|.	.;FA35A_HUMAN|.	R|D	755;686;686|410	ENSP00000298786:S755R;ENSP00000298784:S686R;ENSP00000351064:S686R|.	ENSP00000298784:S686R|.	S|Y	+|+	3|1	2|0	FAM35A|FAM35A	88929906|88929906	0.002000|0.002000	0.14202|0.14202	0.009000|0.009000	0.14445|0.14445	0.937000|0.937000	0.57800|0.57800	-0.235000|-0.235000	0.09016|0.09016	-0.554000|-0.554000	0.06150|0.06150	0.352000|0.352000	0.21897|0.21897	AGT|TAT	.	.	none		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88939926	T	G	88939926	3	3	35	1	0	0	0	0	1	0	0	0	5553	1635	57	5	2076	5	FAM35A	10	88939926	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	7566149	88939926	46594821	207	23434										
PLCE1	51196	hgsc.bcm.edu	37	chr10	96018781	96018781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cctcattcagtgtcaggagcCgcaaggacctgaaggatctg	12	11	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:96018781C>T	ENST00000371380.3	+	12	3923	c.3688C>T	c.(3688-3690)Cgc>Tgc	p.R1230C	PLCE1_ENST00000371385.3_Missense_Mutation_p.R922C|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1230C|PLCE1_ENST00000371375.1_Missense_Mutation_p.R922C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1230				SR -> QA (in Ref. 8; AAF22005). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTCAGGAGCCGCAAGGACCT	0.463																																					p.R1230C		Atlas-SNP	.											PLCE1_ENST00000371375,NS,carcinoma,-1,3	PLCE1	543	3	0			c.C3688T						PASS	.						125	119	121					10																	96018781		1957	4149	6106	SO:0001583	missense	51196	exon13			AGGAGCCGCAAGG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3688C>T	10.37:g.96018781C>T	ENSP00000360431:p.Arg1230Cys	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	126	39	0.309524	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410254	0.83340	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77416	-0.2596	10	0.87932	D	0	.	16.238	0.82389	0.1339:0.8661:0.0:0.0	.	1214;922;1230	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	1230;1230;922;922	ENSP00000260766:R1230C;ENSP00000360431:R1230C;ENSP00000360438:R922C;ENSP00000360426:R922C	ENSP00000260766:R1230C	R	+	1	0	PLCE1	96008771	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.002000	0.57053	1.420000	0.47138	0.555000	0.69702	CGC	.	.	none		0.463	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	96018781	C	T	96018781	3	4	35	1	0	0	0	0	1	0	0	0	12034	652	23	1	4020	1	PLCE1	10	96018781	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7078855	96018781	39515966	208	23435										
HPSE2	60495	hgsc.bcm.edu	37	chr10	100249925	100249925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agactttggggccgatcaggCgcttgtagaggagagagagc	17	7	1	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:100249925C>T	ENST00000370552.3	-	10	1408	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	HPSE2_ENST00000404542.1_Missense_Mutation_p.R338H|HPSE2_ENST00000370549.1_Missense_Mutation_p.R392H|HPSE2_ENST00000370546.1_Missense_Mutation_p.R450H	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	450					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCGATCAGGCGCTTGTAGAG	0.557																																					p.R450H		Atlas-SNP	.											.	HPSE2	203	.	0			c.G1349A						PASS	.						81	82	82					10																	100249925		2203	4300	6503	SO:0001583	missense	60495	exon10			ATCAGGCGCTTGT	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1349G>A	10.37:g.100249925C>T	ENSP00000359583:p.Arg450His	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	85	26	0.305882	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332532	0.60853	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.82	5.82	0.92795	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.065719	0.64402	D	0.000012	T	0.32102	0.0818	L	0.48935	1.535	0.42422	D	0.992648	B;B;B;B	0.28667	0.01;0.219;0.054;0.032	B;B;B;B	0.21360	0.005;0.034;0.017;0.007	T	0.09618	-1.0666	10	0.56958	D	0.05	-8.8517	13.3123	0.60386	0.0:0.9279:0.0:0.0721	.	338;450;392;450	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	H	450;392;450;338	ENSP00000359583:R450H;ENSP00000359580:R392H;ENSP00000359577:R450H;ENSP00000384384:R338H	ENSP00000359577:R450H	R	-	2	0	HPSE2	100239915	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.720000	0.54933	2.755000	0.94549	0.591000	0.81541	CGC	.	.	none		0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100249925	C	T	100249925	3	4	35	1	0	0	0	0	1	0	0	0	7345	768	27	1	479	1	HPSE2	10	100249925	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4231144	100249925	35284822	209	23436										
SORCS1	114815	hgsc.bcm.edu	37	chr10	108389123	108389123	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccatcgccaaagtccacttgGatgagtgtccgctgaacatc	9	13	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:108389123G>A	ENST00000263054.6	-	19	2506	c.2499C>T	c.(2497-2499)atC>atT	p.I833I	SORCS1_ENST00000344440.6_Silent_p.I833I|SORCS1_ENST00000369698.1_Silent_p.I368I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	833	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCCACTTGGATGAGTGTCC	0.507																																					p.I833I		Atlas-SNP	.											.	SORCS1	534	.	0			c.C2499T						PASS	.						132	96	108					10																	108389123		2203	4300	6503	SO:0001819	synonymous_variant	114815	exon19			CACTTGGATGAGT	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2499C>T	10.37:g.108389123G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	63	18	0.285714	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			.	.	none		0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108389123	G	A	108389123	2	1	35	1	0	0	0	0	0	0	0	1	14930	1164	41	2		2	SORCS1	10	108389123	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8139198	108389123	27145624	210	23437										
C10orf81	79949	hgsc.bcm.edu	37	chr10	115531832	115531832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaatcattatcttactcctcGaagtgttcttttagaggtaa	7	7	3	1	rs267602368		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:115531832G>A	ENST00000369310.3	+	7	1200	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.R33Q|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.R219Q|PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R131Q	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	213																	CTTACTCCTCGAAGTGTTCTT	0.368																																					p.R219Q		Atlas-SNP	.											C10orf81_ENST00000369312,colon,carcinoma,0,2	PLEKHS1	19	2	0			c.G656A						PASS	.						155	142	147					10																	115531832		2203	4300	6503	SO:0001583	missense	79949	exon8			CTCCTCGAAGTGT	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.638G>A	10.37:g.115531832G>A	ENSP00000358316:p.Arg213Gln	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	99	29	0.292929	NM_024889	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420531	0.62622	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.63	4.73	0.59995	.	0.148213	0.42964	N	0.000628	T	0.26376	0.0644	L	0.39397	1.21	0.35931	D	0.832512	D;D;P;P	0.57571	0.974;0.98;0.862;0.945	B;B;B;B	0.43867	0.286;0.372;0.322;0.434	T	0.29731	-1.0002	10	0.36615	T	0.2	-34.6782	10.4632	0.44592	0.0895:0.0:0.9105:0.0	.	213;213;213;219	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	Q	219;131;213;33	ENSP00000354332:R219Q;ENSP00000358318:R131Q;ENSP00000358316:R213Q;ENSP00000358315:R33Q	ENSP00000354332:R219Q	R	+	2	0	C10orf81	115521822	0.999000	0.42202	0.879000	0.34478	0.678000	0.39670	1.486000	0.35530	1.389000	0.46526	0.650000	0.86243	CGA	.	.	none		0.368	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		A	115531832	G	A	115531832	3	1	35	1	0	0	0	0	1	0	0	0	1619	1058	37	1	682	1	C10orf81	10	115531832	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	7142709	115531832	20002915	211	23438										
FGFR2	2263	hgsc.bcm.edu	37	chr10	123325112	123325112	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aagtgcaccccatccttagtCcaactgatcacggcggcatc	8	15	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:123325112C>G	ENST00000358487.5	-	3	488	c.216G>C	c.(214-216)tgG>tgC	p.W72C	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000359354.2_Missense_Mutation_p.W72C|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.W72C|FGFR2_ENST00000369056.1_Missense_Mutation_p.W72C|FGFR2_ENST00000346997.2_Missense_Mutation_p.W72C|FGFR2_ENST00000369061.4_Missense_Mutation_p.W72C|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.W72C|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.W72C	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	72	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATCCTTAGTCCAACTGATCA	0.552		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																												p.W72C		Atlas-SNP	.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	FGFR2	758	.	0			c.G216C						PASS	.						168	145	153					10																	123325112		2203	4300	6503	SO:0001583	missense	2263	exon3	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	CTTAGTCCAACTG	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.216G>C	10.37:g.123325112C>G	ENSP00000351276:p.Trp72Cys	Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	146	47	0.321918	NM_022970	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182891	0.78677	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000369056;ENST00000369058;ENST00000359354	D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.24	5.24	0.73138	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.98936	4.375	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;0.998;1.0;1.0;1.0	D	0.98786	1.0734	10	0.87932	D	0	.	17.3711	0.87377	0.0:1.0:0.0:0.0	.	91;91;72;91;72;72;91;72	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802;D3DRE0;P21802-17	.;.;.;.;.;FGFR2_HUMAN;.;.	C	72	ENSP00000358057:W72C;ENSP00000351276:W72C;ENSP00000358056:W72C;ENSP00000263451:W72C;ENSP00000410294:W72C;ENSP00000309878:W72C;ENSP00000358052:W72C;ENSP00000358054:W72C;ENSP00000352309:W72C	ENSP00000263451:W72C	W	-	3	0	FGFR2	123315102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.587000	0.87381	0.643000	0.83706	TGG	.	.	none		0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		G	123325112	C	G	123325112	3	3	35	1	0	0	0	0	1	0	0	0	5866	856	30	4	2569	4	FGFR2	10	123325112	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7793280	123325112	12209635	212	23439										
TACC2	10579	hgsc.bcm.edu	37	chr10	124009153	124009153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggagcagctgcgagtggacGccctggaaaggacgctggag	18	9	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:124009153G>A	ENST00000369005.1	+	22	9095	c.8755G>A	c.(8755-8757)Gcc>Acc	p.A2919T	TACC2_ENST00000369004.3_Missense_Mutation_p.A979T|TACC2_ENST00000358010.1_Missense_Mutation_p.A1065T|TACC2_ENST00000513429.1_Missense_Mutation_p.A1065T|TACC2_ENST00000369001.1_Missense_Mutation_p.A546T|TACC2_ENST00000334433.3_Missense_Mutation_p.A2919T|TACC2_ENST00000360561.3_Missense_Mutation_p.A967T|TACC2_ENST00000369000.1_Missense_Mutation_p.A542T|TACC2_ENST00000515603.1_Missense_Mutation_p.A2797T|TACC2_ENST00000368999.1_Missense_Mutation_p.A1009T|TACC2_ENST00000453444.2_Missense_Mutation_p.A2846T|TACC2_ENST00000260733.3_Missense_Mutation_p.A997T|TACC2_ENST00000515273.1_Missense_Mutation_p.A2846T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2919					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCGAGTGGACGCCCTGGAAAG	0.662																																					p.A2919T		Atlas-SNP	.											.	TACC2	271	.	0			c.G8755A						PASS	.						28	30	29					10																	124009153		2203	4300	6503	SO:0001583	missense	10579	exon22			GTGGACGCCCTGG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8755G>A	10.37:g.124009153G>A	ENSP00000358001:p.Ala2919Thr	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	128	33	0.257812	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006134	0.54361	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.16	4.26	0.50523	.	0.000000	0.36703	N	0.002443	T	0.52289	0.1725	N	0.17474	0.49	0.46849	D	0.999228	D;D;D;D;D;P;B;P;D	0.89917	1.0;1.0;1.0;1.0;0.998;0.539;0.434;0.862;1.0	D;D;D;D;D;B;B;B;D	0.91635	0.994;0.999;0.994;0.996;0.921;0.237;0.151;0.39;0.997	T	0.58177	-0.7682	10	0.59425	D	0.04	-14.2358	13.9465	0.64089	0.0734:0.0:0.9265:0.0	.	2846;979;2797;2846;967;997;542;1065;2919	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	T	2919;1065;2846;2797;2919;1065;2846;2832;546;542;967;1009;979;997	ENSP00000358001:A2919T;ENSP00000425062:A1065T;ENSP00000424467:A2846T;ENSP00000427618:A2797T;ENSP00000334280:A2919T;ENSP00000350701:A1065T;ENSP00000395048:A2846T;ENSP00000357997:A546T;ENSP00000357996:A542T;ENSP00000353763:A967T;ENSP00000357995:A1009T;ENSP00000422815:A979T;ENSP00000260733:A997T	ENSP00000260733:A997T	A	+	1	0	TACC2	123999143	1.000000	0.71417	0.249000	0.24280	0.041000	0.13682	5.747000	0.68689	1.322000	0.45245	-0.136000	0.14681	GCC	.	.	none		0.662	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	124009153	G	A	124009153	3	1	35	1	0	0	0	0	1	0	0	0	15499	1087	38	1	8909	1	TACC2	10	124009153	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	684041	124009153	11525594	213	23440										
ACADSB	36	hgsc.bcm.edu	37	chr10	124810591	124810591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caacaccaagtggctcacgtGgccacccagctggaagctgc	11	15	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr10:124810591G>A	ENST00000358776.4	+	9	1031	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	ACADSB_ENST00000368869.4_Silent_p.V237V	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	339					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TGGCTCACGTGGCCACCCAGC	0.458																																					p.V339V		Atlas-SNP	.											.	ACADSB	45	.	0			c.G1017A						PASS	.						41	41	41					10																	124810591		2203	4300	6503	SO:0001819	synonymous_variant	36	exon9			TCACGTGGCCACC	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1017G>A	10.37:g.124810591G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	CCDS7634.1																																																																																			.	.	none		0.458	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		A	124810591	G	A	124810591	2	1	35	1	0	0	0	0	0	0	0	1	115	1335	47	2		2	ACADSB	10	124810591	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	801438	124810591	10724156	214	23441										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1272843	1272843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acccctgcagtgctccccagCagcctgccaaccttcagcgt	8	19	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:1272843C>T	ENST00000529681.1	+	31	14791	c.14733C>T	c.(14731-14733)agC>agT	p.S4911S	MUC5B_ENST00000447027.1_Silent_p.S4914S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4911	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCTCCCCAGCAGCCTGCCAA	0.637																																					p.S4911S		Atlas-SNP	.											.	MUC5B	473	.	0			c.C14733T						PASS	.						53	63	60					11																	1272843		2167	4248	6415	SO:0001819	synonymous_variant	727897	exon31			CCCCAGCAGCCTG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14733C>T	11.37:g.1272843C>T		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	33	16	0.484848	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	none		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1272843	C	T	1272843	2	4	35	1	0	0	0	0	0	0	0	1	9979	709	25	2		2	MUC5B	11	1272843	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		1272843	133733673	215	23442										
EIF3F	8665	hgsc.bcm.edu	37	chr11	8016899	8016899	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gatgactttgagaccatgctCaacagcaacatcaatgtgag	9	9	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:8016899C>G	ENST00000533626.1	+	9	1607	c.981C>G	c.(979-981)ctC>ctG	p.L327L	EIF3F_ENST00000449102.2_Silent_p.L178L|EIF3F_ENST00000537635.1_Silent_p.L342L|EIF3F_ENST00000309828.4_Silent_p.L327L					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACCATGCTCAACAGCAACA	0.498																																					p.L327L		Atlas-SNP	.											.	EIF3F	23	.	0			c.C981G						PASS	.						174	164	168					11																	8016899		2201	4296	6497	SO:0001819	synonymous_variant	8665	exon7			CATGCTCAACAGC	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.981C>G	11.37:g.8016899C>G		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	81	45	0.555556	NM_003754		Silent	SNP	ENST00000533626.1	37	CCDS7785.1																																																																																			.	.	none		0.498	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		G	8016899	C	G	8016899	2	3	35	1	0	0	0	0	0	0	0	1	5016	813	29	4		4	EIF3F	11	8016899	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6744056	8016899	126989617	216	23443										
CALCA	796	hgsc.bcm.edu	37	chr11	14989251	14989251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	attcagctgctcaggcttgaAggtccctgcggcgcctgcca	12	14	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:14989251A>C	ENST00000486207.1	-	3	385	c.377T>G	c.(376-378)cTt>cGt	p.L126R	CALCA_ENST00000361010.3_Missense_Mutation_p.L126R|CALCB_ENST00000523376.1_Intron			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	126					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TCAGGCTTGAAGGTCCCTGCG	0.537																																					p.L126R		Atlas-SNP	.											.	CALCA	30	.	0			c.T377G						PASS	.						61	58	59					11																	14989251		2200	4294	6494	SO:0001583	missense	796	exon4			GCTTGAAGGTCCC	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.377T>G	11.37:g.14989251A>C	ENSP00000417833:p.Leu126Arg	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	52	10	0.192308	NM_001033953	Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615604	0.66672	.	.	ENSG00000110680	ENST00000486207;ENST00000361010	T;T	0.32515	1.45;1.45	4.65	3.5	0.40072	.	.	.	.	.	T	0.54240	0.1846	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58707	-0.7589	9	0.72032	D	0.01	.	11.7799	0.52008	0.8182:0.1818:0.0:0.0	.	126	P06881	CALCA_HUMAN	R	126	ENSP00000417833:L126R;ENSP00000354286:L126R	ENSP00000354286:L126R	L	-	2	0	CALCA	14945827	0.889000	0.30405	0.186000	0.23195	0.179000	0.23085	1.028000	0.30128	1.033000	0.39918	0.533000	0.62120	CTT	.	.	none		0.537	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		C	14989251	A	C	14989251	3	2	35	1	0	0	0	0	1	0	0	0	2575	72	3	5	13	5	CALCA	11	14989251	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	6972352	14989251	120017265	217	23444										
PLEKHA7	144100	hgsc.bcm.edu	37	chr11	17035910	17035910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cacaccccgtaggaccaatgCtcaggtaaagtgtcccgccc	9	16	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:17035910C>T	ENST00000355661.3	-	1	49	c.39G>A	c.(37-39)gaG>gaA	p.E13E	PLEKHA7_ENST00000532079.1_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.E13E|PLEKHA7_ENST00000531066.1_Silent_p.E13E|OR7E14P_ENST00000530490.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	13	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGACCAATGCTCAGGTAAAG	0.781																																					p.E13E		Atlas-SNP	.											.	PLEKHA7	120	.	0			c.G39A						PASS	.						4	3	4					11																	17035910		1811	3701	5512	SO:0001819	synonymous_variant	144100	exon1			CCAATGCTCAGGT	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.39G>A	11.37:g.17035910C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	29	15	0.517241	NM_175058	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																			.	.	none		0.781	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	17035910	C	T	17035910	2	4	35	1	0	0	0	0	0	0	0	1	12061	796	28	2		2	PLEKHA7	11	17035910	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2046659	17035910	117970606	218	23445										
MUC15	143662	hgsc.bcm.edu	37	chr11	26584710	26584710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gccgatgggaaaatgaatccGttttcctttttccacacaac	7	11	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:26584710G>A	ENST00000455601.2	-	3	915	c.797C>T	c.(796-798)aCg>aTg	p.T266M	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.T293M|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000529533.1_Missense_Mutation_p.T293M|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	266					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AAATGAATCCGTTTTCCTTTT	0.393																																					p.T293M		Atlas-SNP	.											MUC15,NS,carcinoma,0,1	MUC15	88	1	0			c.C878T						PASS	.						117	119	118					11																	26584710		2203	4300	6503	SO:0001583	missense	143662	exon4			GAATCCGTTTTCC	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.797C>T	11.37:g.26584710G>A	ENSP00000397339:p.Thr266Met	Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	91	53	0.582418	NM_001135091	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505843	0.44558	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000529533	T;T;T	0.26518	1.75;1.73;1.73	4.52	-0.183	0.13284	.	0.441624	0.19223	N	0.119636	T	0.11196	0.0273	L	0.27053	0.805	0.18873	N	0.999989	P;P	0.37398	0.593;0.593	B;B	0.24848	0.056;0.056	T	0.16988	-1.0384	10	0.66056	D	0.02	-1.4965	3.6308	0.08131	0.0809:0.2526:0.4092:0.2573	.	266;293	Q8N387;E9PII6	MUC15_HUMAN;.	M	266;293;293	ENSP00000397339:T266M;ENSP00000416753:T293M;ENSP00000431983:T293M	ENSP00000416753:T293M	T	-	2	0	MUC15	26541286	0.035000	0.19736	0.271000	0.24616	0.908000	0.53690	0.250000	0.18235	0.063000	0.16370	-0.898000	0.02899	ACG	.	.	none		0.393	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		A	26584710	G	A	26584710	3	1	35	1	0	0	0	0	1	0	0	0	9972	1145	40	1	215	1	MUC15	11	26584710	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	9548800	26584710	108421806	219	23446										
OR5M8	219484	hgsc.bcm.edu	37	chr11	56258097	56258097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgaagaaaagggttgcataGaatatagtgacagctgtcag	12	4	1	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:56258097G>T	ENST00000327216.2	-	1	774	c.750C>A	c.(748-750)ttC>ttA	p.F250L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	250						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(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGGTTGCATAGAATATAGTGA	0.418																																					p.F250L		Atlas-SNP	.											.	OR5M8	74	.	0			c.C750A						PASS	.						37	40	39					11																	56258097		2201	4296	6497	SO:0001583	missense	219484	exon1			TGCATAGAATATA	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.750C>A	11.37:g.56258097G>T	ENSP00000323354:p.Phe250Leu	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	82	39	0.47561	NM_001005282	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483308	0.44147	.	.	ENSG00000181371	ENST00000327216	T	0.00285	8.3	4.26	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	U	0.001119	T	0.00496	0.0016	M	0.71581	2.175	0.33824	D	0.629419	D	0.89917	1.0	D	0.91635	0.999	T	0.63129	-0.6706	10	0.59425	D	0.04	-32.5199	7.1207	0.25442	0.375:0.0:0.625:0.0	.	250	Q8NGP6	OR5M8_HUMAN	L	250	ENSP00000323354:F250L	ENSP00000323354:F250L	F	-	3	2	OR5M8	56014673	0.001000	0.12720	0.978000	0.43139	0.568000	0.35870	-0.517000	0.06275	0.066000	0.16515	-1.079000	0.02226	TTC	.	.	none		0.418	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		T	56258097	G	T	56258097	3	4	35	1	0	0	0	0	1	0	0	0	11176	933	33	4	189	4	OR5M8	11	56258097	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	29673387	56258097	78748419	220	23447										
OR5M1	390168	hgsc.bcm.edu	37	chr11	56380719	56380719	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggagatggtcttctgttctGagaggaaattgtgcagcata	13	5	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:56380719G>A	ENST00000526538.1	-	1	259	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTCTGTTCTGAGAGGAAATT	0.448																																					p.S87L		Atlas-SNP	.											.	OR5M1	92	.	0			c.C260T						PASS	.						145	136	139					11																	56380719		1908	4127	6035	SO:0001583	missense	390168	exon1			TGTTCTGAGAGGA	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.260C>T	11.37:g.56380719G>A	ENSP00000435416:p.Ser87Leu	Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	174	100	0.574713	NM_001004740	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328996	0.24167	.	.	ENSG00000255012	ENST00000526538	T	0.01335	5.0	3.71	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.244803	0.21257	N	0.077529	T	0.02012	0.0063	M	0.64630	1.985	0.09310	N	1	B	0.25850	0.136	B	0.30782	0.12	T	0.42430	-0.9452	10	0.22706	T	0.39	-28.6778	6.4532	0.21916	0.0:0.2037:0.5864:0.2099	.	87	Q8NGP8	OR5M1_HUMAN	L	87	ENSP00000435416:S87L	ENSP00000435416:S87L	S	-	2	0	OR5M1	56137295	0.000000	0.05858	0.617000	0.29091	0.796000	0.44982	0.694000	0.25512	0.775000	0.33450	0.280000	0.19369	TCA	.	.	none		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		A	56380719	G	A	56380719	3	1	35	1	0	0	0	0	1	0	0	0	11172	1294	45	2	691	2	OR5M1	11	56380719	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	122622	56380719	78625797	221	23448										
AHNAK	79026	hgsc.bcm.edu	37	chr11	62284325	62284325	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtcgggacttcttagaggccAgggacaccccactcccctgt	11	15	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:62284325A>T	ENST00000378024.4	-	5	17838	c.17564T>A	c.(17563-17565)cTg>cAg	p.L5855Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5855					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTAGAGGCCAGGGACACCCC	0.527																																					p.L5855Q		Atlas-SNP	.											.	AHNAK	532	.	0			c.T17564A						PASS	.						196	174	181					11																	62284325		2202	4299	6501	SO:0001583	missense	79026	exon5			GAGGCCAGGGACA	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17564T>A	11.37:g.62284325A>T	ENSP00000367263:p.Leu5855Gln	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	138	78	0.565217	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803170	0.31869	.	.	ENSG00000124942	ENST00000378024	T	0.03065	4.06	4.89	3.75	0.43078	.	.	.	.	.	T	0.02418	0.0074	N	0.12182	0.205	0.32889	D	0.511639	B	0.32753	0.383	B	0.27608	0.081	T	0.40887	-0.9539	9	0.38643	T	0.18	-0.5722	10.1511	0.42794	0.9194:0.0:0.0806:0.0	.	5855	Q09666	AHNK_HUMAN	Q	5855	ENSP00000367263:L5855Q	ENSP00000367263:L5855Q	L	-	2	0	AHNAK	62040901	0.979000	0.34478	0.998000	0.56505	0.991000	0.79684	2.803000	0.47924	0.711000	0.32018	0.448000	0.29417	CTG	.	.	none		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62284325	A	T	62284325	3	4	35	1	0	0	0	0	1	0	0	0	414	188	7	5	228	5	AHNAK	11	62284325	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	5903606	62284325	72722191	222	23449										
SLC22A9	114571	hgsc.bcm.edu	37	chr11	63137598	63137598	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agatccttcagactgtttttCtctcaatctttgctgttgct	6	10	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:63137598C>A	ENST00000279178.3	+	1	319	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.L24I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	24					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GACTGTTTTTCTCTCAATCTT	0.483																																					p.L24I		Atlas-SNP	.											SLC22A9,NS,carcinoma,0,1	SLC22A9	77	1	0			c.C70A						PASS	.						165	164	164					11																	63137598		2201	4298	6499	SO:0001583	missense	114571	exon1			GTTTTTCTCTCAA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.70C>A	11.37:g.63137598C>A	ENSP00000279178:p.Leu24Ile	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	223	112	0.502242	NM_080866	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291568	0.23564	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.38240	1.15;1.15	3.48	-3.73	0.04398	.	0.525769	0.17727	N	0.164008	T	0.22085	0.0532	L	0.41236	1.265	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.11131	-1.0600	10	0.40728	T	0.16	.	6.0315	0.19683	0.0:0.3744:0.1409:0.4847	.	24	Q8IVM8	S22A9_HUMAN	I	24	ENSP00000311527:L24I;ENSP00000279178:L24I	ENSP00000279178:L24I	L	+	1	0	SLC22A9	62894174	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-2.654000	0.00855	-0.613000	0.05694	0.134000	0.15878	CTC	.	.	none		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63137598	C	A	63137598	3	1	35	1	0	0	0	0	1	0	0	0	14461	913	32	4	72	4	SLC22A9	11	63137598	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	853273	63137598	71868918	223	23450										
CCDC88B	283234	hgsc.bcm.edu	37	chr11	64121559	64121559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccctggggggctgcgcctggGggccgatggggctggcagca	21	12	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:64121559G>A	ENST00000356786.5	+	24	4060	c.4016G>A	c.(4015-4017)gGg>gAg	p.G1339E	CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Intron	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1339						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctgcgcctgggggccgATGGG	0.741																																					p.G1339E		Atlas-SNP	.											.	CCDC88B	89	.	0			c.G4016A						PASS	.						5	6	6					11																	64121559		1975	3971	5946	SO:0001583	missense	283234	exon24			GCCTGGGGGCCGA	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.4016G>A	11.37:g.64121559G>A	ENSP00000349238:p.Gly1339Glu	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	73	38	0.520548	NM_032251	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	17.82	3.482314	0.63962	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.22945	1.93	2.87	2.87	0.33458	.	.	.	.	.	T	0.33177	0.0854	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.963;0.999	T	0.05435	-1.0885	9	0.12766	T	0.61	.	9.3241	0.37982	0.0:0.0:1.0:0.0	.	1339;1221;1339	B2RTU8;A6NC98-4;A6NC98	.;.;CC88B_HUMAN	E	1221;1339	ENSP00000349238:G1339E	ENSP00000349238:G1339E	G	+	2	0	CCDC88B	63878135	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.486000	0.22340	1.582000	0.49881	0.457000	0.33378	GGG	.	.	none		0.741	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64121559	G	A	64121559	3	1	35	1	0	0	0	0	1	0	0	0	2864	1232	43	2	4110	2	CCDC88B	11	64121559	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	983961	64121559	70884957	224	23451										
PPP1CA	5499	hgsc.bcm.edu	37	chr11	67168324	67168324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccccagaaagaggtagttgCtctcgggagggaaaccgcca	13	12	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:67168324C>G	ENST00000376745.4	-	3	402	c.254G>C	c.(253-255)aGc>aCc	p.S85T	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.S96T|PPP1CA_ENST00000358239.4_Missense_Mutation_p.S41T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	85					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GAGGTAGTTGCTCTCGGGAGG	0.542																																					p.S96T		Atlas-SNP	.											.	PPP1CA	83	.	0			c.G287C						PASS	.						109	105	106					11																	67168324		2200	4295	6495	SO:0001583	missense	5499	exon3			TAGTTGCTCTCGG		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.254G>C	11.37:g.67168324C>G	ENSP00000365936:p.Ser85Thr	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	82	17	0.207317	NM_001008709	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093159	0.56075	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.08	3.19	0.36642	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	N	0.12569	0.235	0.52501	D	0.999958	B;B;B;B;B;B	0.18863	0.031;0.031;0.0;0.008;0.0;0.001	B;B;B;B;B;B	0.24269	0.052;0.03;0.006;0.014;0.006;0.01	T	0.58446	-0.7635	10	0.59425	D	0.04	.	9.3804	0.38311	0.0:0.7739:0.1456:0.0805	.	182;182;85;41;96;94	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	96;182;85;41;85	ENSP00000326031:S96T;ENSP00000365936:S85T;ENSP00000350974:S41T;ENSP00000431146:S85T	ENSP00000326031:S96T	S	-	2	0	PPP1CA	66924900	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	4.884000	0.63135	0.522000	0.28464	0.563000	0.77884	AGC	.	.	none		0.542	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		G	67168324	C	G	67168324	3	3	35	1	0	0	0	0	1	0	0	0	12349	797	28	4	758	4	PPP1CA	11	67168324	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	3046765	67168324	67838192	225	23452										
TBC1D10C	374403	hgsc.bcm.edu	37	chr11	67176563	67176563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cactgggagcccttcgagccAtcccccccgcgcagctgcag	11	19	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:67176563A>G	ENST00000542590.1	+	8	966	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.I318V|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.H253R			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTCGAGCCATCCCCCCCGC	0.687																																					p.I318V		Atlas-SNP	.											.	TBC1D10C	42	.	0			c.A952G						PASS	.						19	20	20					11																	67176563		2194	4291	6485	SO:0001583	missense	374403	exon9			CGAGCCATCCCCC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.952A>G	11.37:g.67176563A>G	ENSP00000443654:p.Ile318Val	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	149	68	0.456376	NM_198517	G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.51|11.51	1.660112|1.660112	0.29515|0.29515	.|.	.|.	ENSG00000175463|ENSG00000175463	ENST00000526387|ENST00000312390;ENST00000542590	.|T;T	.|0.07114	.|3.22;3.22	4.94|4.94	3.69|3.69	0.42338|0.42338	.|Rab-GAP/TBC domain (1);	.|0.145274	.|0.31660	.|N	.|0.007262	T|T	0.07999|0.07999	0.0200|0.0200	L|L	0.55481|0.55481	1.735|1.735	0.31201|0.31201	N|N	0.69976|0.69976	B|B	0.21071|0.18610	0.051|0.029	B|B	0.16722|0.20184	0.016|0.028	T|T	0.12091|0.12091	-1.0561|-1.0561	8|10	0.87932|0.27785	D|T	0|0.31	.|.	4.707|4.707	0.12855|0.12855	0.6934:0.1811:0.1254:0.0|0.6934:0.1811:0.1254:0.0	.|.	253|318	G3V1D6|Q8IV04	.|TB10C_HUMAN	R|V	253|318	.|ENSP00000310193:I318V;ENSP00000443654:I318V	ENSP00000435543:H253R|ENSP00000310193:I318V	H|I	+|+	2|1	0|0	TBC1D10C|TBC1D10C	66933139|66933139	0.978000|0.978000	0.34361|0.34361	0.794000|0.794000	0.32065|0.32065	0.508000|0.508000	0.34012|0.34012	2.081000|2.081000	0.41596|0.41596	0.785000|0.785000	0.33685|0.33685	0.459000|0.459000	0.35465|0.35465	CAT|ATC	.	.	none		0.687	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		G	67176563	A	G	67176563	3	3	35	1	0	0	0	0	1	0	0	0	15597	217	8	2	982	2	TBC1D10C	11	67176563	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	8239	67176563	67829953	226	23453										
INPPL1	3636	hgsc.bcm.edu	37	chr11	71949157	71949157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agtgcctggctgcgggccatCggcttggagcgctatgagga	17	10	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:71949157C>T	ENST00000298229.2	+	27	3828	c.3624C>T	c.(3622-3624)atC>atT	p.I1208I	INPPL1_ENST00000541756.1_Silent_p.I966I|INPPL1_ENST00000538751.1_Silent_p.I966I|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1208	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCGGGCCATCGGCTTGGAGC	0.711											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I1208I		Atlas-SNP	.											INPPL1,bladder,carcinoma,0,1	INPPL1	120	1	0			c.C3624T						scavenged	.						20	21	21					11																	71949157		2198	4289	6487	SO:0001819	synonymous_variant	3636	exon27			GGCCATCGGCTTG	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3624C>T	11.37:g.71949157C>T		Somatic	121	1	0.00826446	1133	WXS	Illumina HiSeq	Phase_I	95	51	0.536842	NM_001567	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.273590	0.23221	.	.	ENSG00000165458	ENST00000320683	.	.	.	4.84	-0.416	0.12351	.	.	.	.	.	T	0.44456	0.1294	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	.	4.3982	0.11374	0.0:0.3624:0.171:0.4666	.	.	.	.	L	70	.	.	S	+	2	0	INPPL1	71626805	0.980000	0.34600	1.000000	0.80357	0.975000	0.68041	0.085000	0.14912	0.257000	0.21650	-0.218000	0.12543	TCG	.	.	none		0.711	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		T	71949157	C	T	71949157	2	4	35	1	0	0	0	0	0	0	0	1	7761	874	31	1		1	INPPL1	11	71949157	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4772594	71949157	63057359	227	23454										
ARHGEF17	9828	hgsc.bcm.edu	37	chr11	73073580	73073580	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gacgaggaagccgcgacgctCgcggagccggggccgcagcc	18	15	0	0	rs76764824	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:73073580C>T	ENST00000263674.3	+	14	5147	c.4797C>T	c.(4795-4797)ctC>ctT	p.L1599L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1599					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						CCGCGACGCTCGCGGAGCCGG	0.731													C|||	239	0.0477236	0.0272	0.0403	5008	,	,		12983	0.0099		0.0895	False		,,,				2504	0.0767				p.L1599L		Atlas-SNP	.											ARHGEF17,bladder,carcinoma,+2,1	ARHGEF17	117	1	0			c.C4797T						PASS	.	C		151,4157		0,151,2003	10	15	14		4797	-1.5	0	11	dbSNP_132	14	789,7685		40,709,3488	no	coding-synonymous	ARHGEF17	NM_014786.3		40,860,5491	TT,TC,CC		9.3108,3.5051,7.3541		1599/2064	73073580	940,11842	2154	4237	6391	SO:0001819	synonymous_variant	9828	exon14			GACGCTCGCGGAG	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.4797C>T	11.37:g.73073580C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	47	27	0.574468	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																			C|0.953;T|0.047	0.047	strong		0.731	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73073580	C	T	73073580	2	4	35	1	0	0	0	0	0	0	0	1	900	871	31	1		1	ARHGEF17	11	73073580	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1124423	73073580	61932936	228	23455										
TMEM135	65084	hgsc.bcm.edu	37	chr11	86782566	86782566	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttccaaatttgaatttcaggAagatacttggaaaattctac	6	6	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:86782566A>T	ENST00000305494.5	+	3	310	c.271A>T	c.(271-273)Aag>Tag	p.K91*	TMEM135_ENST00000340353.7_Splice_Site_p.K91*|TMEM135_ENST00000355734.4_Splice_Site_p.K91*|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_De_novo_Start_OutOfFrame	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	91					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAATTTCAGGAAGATACTTGG	0.358																																					p.K91X		Atlas-SNP	.											.	TMEM135	40	.	0			c.A271T						PASS	.						62	65	64					11																	86782566		2201	4299	6500	SO:0001630	splice_region_variant	65084	exon3			TTCAGGAAGATAC	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.270-1A>T	11.37:g.86782566A>T		Somatic	229	0	0		WXS	Illumina HiSeq	Phase_I	227	107	0.471366	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Nonsense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	A	40	8.079601	0.98643	.	.	ENSG00000166575	ENST00000340353;ENST00000525018;ENST00000355734;ENST00000305494	.	.	.	5.39	5.39	0.77823	.	0.270861	0.41712	D	0.000840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.2891	14.5832	0.68305	1.0:0.0:0.0:0.0	.	.	.	.	X	91	.	.	K	+	1	0	TMEM135	86460214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.369000	0.90118	2.048000	0.60808	0.533000	0.62120	AAG	.	.	none		0.358	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	Nonsense_Mutation	T	86782566	A	T	86782566	5	4	35	1	0	0	0	0	0	0	1	0	16048	260	9	5	281	5	TMEM135	11	86782566	Splice_Site	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	13708986	86782566	48223950	229	23456										
CNTN5	53942	hgsc.bcm.edu	37	chr11	100211841	100211841	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcagctcctagtcaagcaccTagcaacctcaggtgggagca	11	13	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:100211841T>A	ENST00000524871.1	+	23	3224	c.2934T>A	c.(2932-2934)ccT>ccA	p.P978P	CNTN5_ENST00000528682.1_Silent_p.P978P|CNTN5_ENST00000279463.3_Silent_p.P978P|CNTN5_ENST00000418526.2_Silent_p.P904P|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTCAAGCACCTAGCAACCTCA	0.423																																					p.P978P		Atlas-SNP	.											.	CNTN5	324	.	0			c.T2934A						PASS	.						121	117	118					11																	100211841		1848	4097	5945	SO:0001819	synonymous_variant	53942	exon22			AGCACCTAGCAAC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2934T>A	11.37:g.100211841T>A		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	130	12	0.0923077	NM_001243270	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																			.	.	none		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100211841	T	A	100211841	2	1	35	1	0	0	0	0	0	0	0	1	3644	1509	53	5		5	CNTN5	11	100211841	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	13429275	100211841	34794675	230	23457										
ZBTB16	7704	hgsc.bcm.edu	37	chr11	114027086	114027086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cacagtgggatgaagacgtaCgggtgcgagctctgcgggaa	17	8	1	2	rs148436647	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:114027086C>T	ENST00000335953.4	+	3	1676	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	ZBTB16_ENST00000392996.2_Silent_p.Y432Y	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	432					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGAAGACGTACGGGTGCGAGC	0.572																																					p.Y432Y		Atlas-SNP	.											.	ZBTB16	101	.	0			c.C1296T						PASS	.	C	,	0,4402		0,0,2201	149	112	125		1296,1296	3.9	1	11	dbSNP_134	125	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ZBTB16	NM_001018011.1,NM_006006.4	,	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	,	432/674,432/674	114027086	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	7704	exon3			GACGTACGGGTGC	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1296C>T	11.37:g.114027086C>T		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	69	13	0.188406	NM_006006	Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																			C|1.000;T|0.000	0.000	strong		0.572	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	114027086	C	T	114027086	2	4	35	1	0	0	0	0	0	0	0	1	17523	547	19	1		1	ZBTB16	11	114027086	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	13815245	114027086	20979430	231	23458										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118780644	118780644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgtcttgttagccaggatcCtcatggctcccacacacagt	8	13	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr11:118780644C>T	ENST00000334801.3	-	1	969	c.5G>A	c.(4-6)aGg>aAg	p.R2K	BCL9L_ENST00000526143.1_Intron|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	2					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCCAGGATCCTCATGGCTCC	0.637																																					p.R2K		Atlas-SNP	.											.	BCL9L	254	.	0			c.G5A						PASS	.						213	128	157					11																	118780644		2200	4295	6495	SO:0001583	missense	283149	exon1			AGGATCCTCATGG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.5G>A	11.37:g.118780644C>T	ENSP00000335320:p.Arg2Lys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	63	29	0.460317	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648175	0.67358	.	.	ENSG00000186174	ENST00000334801;ENST00000392849;ENST00000431085;ENST00000532899	T	0.65916	-0.18	4.35	4.35	0.52113	.	0.000000	0.41712	D	0.000826	T	0.41604	0.1166	N	0.08118	0	0.26380	N	0.976745	B;B	0.24651	0.108;0.066	B;B	0.19391	0.025;0.011	T	0.46541	-0.9184	10	0.87932	D	0	-23.7519	12.56	0.56275	0.0:1.0:0.0:0.0	.	2;2	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	K	2	ENSP00000335320:R2K	ENSP00000335320:R2K	R	-	2	0	BCL9L	118285854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.249000	0.32839	2.415000	0.81967	0.555000	0.69702	AGG	.	.	none		0.637	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118780644	C	T	118780644	3	4	35	1	0	0	0	0	1	0	0	0	1382	681	24	2	4526	2	BCL9L	11	118780644	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4753558	118780644	16225872	232	23459										
PHC1	1911	hgsc.bcm.edu	37	chr12	9089488	9089488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaatctcctgaagtgcgagtActgtgggaagtacgcccccg	13	11	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:9089488A>C	ENST00000543824.1	+	13	2737	c.2405A>C	c.(2404-2406)tAc>tCc	p.Y802S	PHC1_ENST00000536844.1_Missense_Mutation_p.Y408S|PHC1_ENST00000433083.2_Missense_Mutation_p.Y757S|PHC1_ENST00000544916.1_Missense_Mutation_p.Y802S			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	802					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AAGTGCGAGTACTGTGGGAAG	0.522																																					p.Y802S		Atlas-SNP	.											.	PHC1	67	.	0			c.A2405C						PASS	.						97	83	88					12																	9089488		2203	4300	6503	SO:0001583	missense	1911	exon12			GCGAGTACTGTGG	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2405A>C	12.37:g.9089488A>C	ENSP00000440674:p.Tyr802Ser	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	101	18	0.178218	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353101	0.61293	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.48201	1.78;1.78;1.75;1.78;0.82	5.03	5.03	0.67393	Zinc finger, FCS-type (1);Zinc finger, MYM-type (1);	0.181694	0.38897	N	0.001525	T	0.51261	0.1664	L	0.33485	1.01	0.80722	D	1	D	0.63046	0.992	P	0.59357	0.856	T	0.52786	-0.8529	10	0.56958	D	0.05	-11.3051	10.5323	0.44983	0.8553:0.0:0.0:0.1447	.	802	P78364	PHC1_HUMAN	S	802;802;757;802;408	ENSP00000440674:Y802S;ENSP00000251757:Y802S;ENSP00000399194:Y757S;ENSP00000437659:Y802S;ENSP00000440488:Y408S	ENSP00000251757:Y802S	Y	+	2	0	PHC1	8980755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.484000	0.66844	2.114000	0.64651	0.459000	0.35465	TAC	.	.	none		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		C	9089488	A	C	9089488	3	2	35	1	0	0	0	0	1	0	0	0	11816	391	14	5	2447	5	PHC1	12	9089488	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10		9089488	124762407	233	23460										
KLRK1	22914	hgsc.bcm.edu	37	chr12	10539559	10539559	+	Frame_Shift_Del	DEL	A	A	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgcttttgccatcgtgttgAaaaatcactcttcttcagat							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:10539559delA	ENST00000240618.6	-	3	231	c.91delT	c.(91-93)tcafs	p.S31fs	KLRK1_ENST00000540818.1_Frame_Shift_Del_p.S31fs|KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	31					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CATCGTGTTGAAAAATCACTC	0.343																																					p.S31X		Atlas-Indel	.											.	.	.	.	0			c.92delC						PASS	.						173	161	165					12																	10539559		2203	4298	6501	SO:0001589	frameshift_variant	0	exon8			.	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.91delT	12.37:g.10539559delA	ENSP00000240618:p.Ser31fs	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	260	59	0.226923	NM_001199805	A8K7K5|A8K7P4|Q9NR41	Frame_Shift_Del	DEL	ENST00000240618.6	37	CCDS8623.1																																																																																			.	.	none		0.343	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		-	10539559	A	-	10539559	7	5	35	1	0	1	0	1	0	0	0	0	8423	246	9	0	583	0	KLRK1	12	10539559	Frame_Shift_Del	DEL	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1450071	10539559	123312336	234	23461										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546314	11546314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctggaggagatcgggcacttTgggacttgttgtctccttgt	14	8	1	1	rs34305575	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:11546314T>C	ENST00000389362.4	-	3	733	c.698A>G	c.(697-699)cAa>cGa	p.Q233R	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	233	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].		Q -> R (in dbSNP:rs34305575).			extracellular region (GO:0005576)		p.Q233R(1)|p.Q212R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGCACTTTGGGACTTGTT	0.602													t|||	1065	0.21266	0.525	0.1513	5008	,	,		19415	0.0942		0.0298	False		,,,				2504	0.1442				p.Q233R		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	prostate(2)	c.A698G						scavenged	.	C	ARG/GLN	2053,2353		493,1067,643	246	269	261		698	-1.2	0	12	dbSNP_126	261	255,8339		12,231,4054	no	missense	PRB2	NM_006248.3	43	505,1298,4697	CC,CT,TT		2.9672,46.5956,17.7538	benign	233/417	11546314	2308,10692	2203	4297	6500	SO:0001583	missense	653247	exon3			GCACTTTGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.698A>G	12.37:g.11546314T>C	ENSP00000374013:p.Gln233Arg	Somatic	921	10	0.0108578		WXS	Illumina HiSeq	Phase_I	935	22	0.0235294	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	336	0.15384615384615385	207	0.42073170731707316	55	0.15193370165745856	57	0.09965034965034965	17	0.022427440633245383	.	1.619	-0.522010	0.04171	0.465956	0.029672	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.17	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.14252	T	0.57	.	5.1581	0.15046	0.0:0.2047:0.0:0.7953	rs34305575	233	P02812	PRB2_HUMAN	R	233	ENSP00000374013:Q233R	ENSP00000374013:Q233R	Q	-	2	0	PRB2	11437581	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-0.886000	0.03966	-1.635000	0.00777	CAA	T|0.891;C|0.109	0.109	strong		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546314	T	C	11546314	3	2	35	1	0	0	0	0	1	0	0	0	12443	1812	63	2	556	2	PRB2	12	11546314	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	1006755	11546314	122305581	235	23462										
DDX47	51202	hgsc.bcm.edu	37	chr12	12966365	12966365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agccgattgtggaagaggagGaaactaaaacatttaaagac	11	5	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:12966365G>C	ENST00000358007.3	+	1	86	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	DDX47_ENST00000352940.4_Missense_Mutation_p.E22Q	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	22					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GGAAGAGGAGGAAACTAAAAC	0.557											OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E22Q		Atlas-SNP	.											.	DDX47	37	.	0			c.G64C						PASS	.						66	64	65					12																	12966365		2203	4300	6503	SO:0001583	missense	51202	exon1			GAGGAGGAAACTA	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.64G>C	12.37:g.12966365G>C	ENSP00000350698:p.Glu22Gln	Somatic	53	0	0	683	WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_201224	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608805	0.28623	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.43688	0.94;1.66;0.94	4.98	4.98	0.66077	.	0.054639	0.64402	D	0.000001	T	0.30603	0.0770	N	0.21545	0.675	0.43622	D	0.996008	B;B;B;B	0.15141	0.008;0.012;0.009;0.003	B;B;B;B	0.12837	0.008;0.007;0.007;0.002	T	0.06698	-1.0812	10	0.16420	T	0.52	-14.5554	17.5534	0.87884	0.0:0.0:1.0:0.0	.	22;22;22;22	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	Q	22	ENSP00000319578:E22Q;ENSP00000350698:E22Q;ENSP00000444000:E22Q	ENSP00000319578:E22Q	E	+	1	0	DDX47	12857632	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	3.126000	0.50477	2.756000	0.94617	0.655000	0.94253	GAA	.	.	none		0.557	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		C	12966365	G	C	12966365	3	2	35	1	0	0	0	0	1	0	0	0	4365	1175	41	4	66	4	DDX47	12	12966365	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1420051	12966365	120885530	236	23463										
PTPRO	5800	hgsc.bcm.edu	37	chr12	15677869	15677869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgcttcactggatggtggtTgcagaaggaaaaaagaaaat	12	4	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:15677869T>C	ENST00000281171.4	+	11	2343	c.2013T>C	c.(2011-2013)gtT>gtC	p.V671V	PTPRO_ENST00000348962.2_Silent_p.V671V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	671	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGATGGTGGTTGCAGAAGGAA	0.353																																					p.V671V		Atlas-SNP	.											.	PTPRO	148	.	0			c.T2013C						PASS	.						84	85	84					12																	15677869		2203	4300	6503	SO:0001819	synonymous_variant	5800	exon11			GGTGGTTGCAGAA	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2013T>C	12.37:g.15677869T>C		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	83	32	0.385542	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																			.	.	none		0.353	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			C	15677869	T	C	15677869	2	2	35	1	0	0	0	0	0	0	0	1	12809	1799	63	2		2	PTPRO	12	15677869	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2711504	15677869	118174026	237	23464										
KCNJ8	3764	hgsc.bcm.edu	37	chr12	21926491	21926491	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgcgcggcttgcgcaggttCtctgcggcgatgcgcgccag	16	13	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:21926491C>G	ENST00000240662.2	-	2	405	c.60G>C	c.(58-60)gaG>gaC	p.E20D		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	20					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TGCGCAGGTTCTCTGCGGCGA	0.617											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E20D		Atlas-SNP	.											.	KCNJ8	59	.	0			c.G60C						PASS	.						74	76	76					12																	21926491		2203	4299	6502	SO:0001583	missense	3764	exon2			CAGGTTCTCTGCG	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.60G>C	12.37:g.21926491C>G	ENSP00000240662:p.Glu20Asp	Somatic	72	0	0	752	WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_004982	O00657	Missense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518644	0.27211	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.91792	-2.39;-2.91	4.88	3.98	0.46160	.	0.202455	0.43919	D	0.000516	D	0.86326	0.5906	L	0.46157	1.445	0.33357	D	0.571788	B	0.06786	0.001	B	0.04013	0.001	T	0.80688	-0.1271	10	0.11485	T	0.65	.	9.2742	0.37690	0.0:0.7776:0.1447:0.0777	.	20	Q15842	IRK8_HUMAN	D	20	ENSP00000240662:E20D;ENSP00000440012:E20D	ENSP00000240662:E20D	E	-	3	2	KCNJ8	21817758	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.560000	0.36331	1.253000	0.44018	0.591000	0.81541	GAG	.	.	none		0.617	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		G	21926491	C	G	21926491	3	3	35	1	0	0	0	0	1	0	0	0	8056	912	32	4	1222	4	KCNJ8	12	21926491	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6248622	21926491	111925404	238	23465										
ESPL1	9700	hgsc.bcm.edu	37	chr12	53683328	53683328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttggaatctggccacttccCccagcctgaaaaggagagtt	10	11	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:53683328C>T	ENST00000257934.4	+	22	5154	c.5063C>T	c.(5062-5064)cCc>cTc	p.P1688L	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1688L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1688					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCCACTTCCCCCAGCCTGAA	0.612																																					p.P1688L	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.C5063T						PASS	.						46	49	48					12																	53683328		2203	4300	6503	SO:0001583	missense	9700	exon22			ACTTCCCCCAGCC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5063C>T	12.37:g.53683328C>T	ENSP00000257934:p.Pro1688Leu	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	58	25	0.431034	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559608	0.65538	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17370	2.28;2.28	5.26	5.26	0.73747	.	0.123552	0.53938	D	0.000041	T	0.30008	0.0751	L	0.34521	1.04	0.58432	D	0.999998	D	0.76494	0.999	D	0.68765	0.96	T	0.01143	-1.1438	10	0.87932	D	0	.	14.2504	0.66016	0.0:1.0:0.0:0.0	.	1688	Q14674	ESPL1_HUMAN	L	1688;1363;1688	ENSP00000257934:P1688L;ENSP00000449831:P1688L	ENSP00000257934:P1688L	P	+	2	0	ESPL1	51969595	0.950000	0.32346	1.000000	0.80357	0.345000	0.29048	1.549000	0.36212	2.735000	0.93741	0.563000	0.77884	CCC	.	.	none		0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53683328	C	T	53683328	3	4	35	1	0	0	0	0	1	0	0	0	5253	623	22	2	5145	2	ESPL1	12	53683328	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	31756837	53683328	80168567	239	23466										
MYL6	4637	hgsc.bcm.edu	37	chr12	56554083	56554083	+	Frame_Shift_Del	DEL	A	A	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggcagggcatgaggacagcAatggttgtatcaactatgaa							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:56554083delA	ENST00000550697.1	+	5	647	c.406delA	c.(406-408)aatfs	p.N136fs	MYL6_ENST00000548293.1_Frame_Shift_Del_p.N136fs|MYL6_ENST00000548400.1_Frame_Shift_Del_p.N100fs|MYL6_ENST00000536128.1_Frame_Shift_Del_p.N229fs|MYL6_ENST00000549017.1_Frame_Shift_Del_p.N32fs|MYL6_ENST00000293422.5_Frame_Shift_Del_p.N137fs|MYL6_ENST00000548580.1_Frame_Shift_Del_p.N88fs|MYL6_ENST00000348108.4_Frame_Shift_Del_p.N137fs|RP11-977G19.5_ENST00000553176.1_RNA|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_Frame_Shift_Del_p.N136fs|MYL6_ENST00000547408.1_Frame_Shift_Del_p.N136fs|MYL6_ENST00000549566.1_Frame_Shift_Del_p.N181fs|MYL6_ENST00000551589.1_Frame_Shift_Del_p.N136fs	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TGAGGACAGCAATGGTTGTAT	0.483																																					p.S135fs		Atlas-Indel	.											.	MYL6	16	.	0			c.405delC						PASS	.						79	71	74					12																	56554083		2203	4300	6503	SO:0001589	frameshift_variant	4637	exon5			.	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.406delA	12.37:g.56554083delA	ENSP00000446955:p.Asn136fs	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	77	12	0.155844	NM_079423	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Frame_Shift_Del	DEL	ENST00000550697.1	37	CCDS8906.1																																																																																			.	.	none		0.483	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			-	56554083	A	-	56554083	7	5	35	1	0	1	0	1	0	0	0	0	10051	130	5	0	424	0	MYL6	12	56554083	Frame_Shift_Del	DEL	A	TCGA-GS-A9TZ-01A-11D-A38X-10	2870755	56554083	77297812	240	23467										
NACA	4666	hgsc.bcm.edu	37	chr12	57118252	57118252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctacctgtctcagcctggggCtgcggcaactcctgctctgt	11	15	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:57118252C>T	ENST00000454682.1	-	2	335	c.54G>A	c.(52-54)caG>caA	p.Q18Q	NACA_ENST00000546392.1_Silent_p.Q18Q|NACA_ENST00000552540.1_Silent_p.Q18Q|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000356769.3_Silent_p.Q18Q|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000393891.4_Silent_p.Q18Q|NACA_ENST00000550952.1_Silent_p.Q18Q	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGCCTGGGGCTGCGGCAACT	0.488			T	BCL6	NHL																																p.Q18Q		Atlas-SNP	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	NACA_ENST00000454682,NS,carcinoma,-1,2	NACA	131	2	0			c.G54A						PASS	.						34	31	32					12																	57118252		2203	4300	6503	SO:0001819	synonymous_variant	4666	exon2			CTGGGGCTGCGGC	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.54G>A	12.37:g.57118252C>T		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	68	31	0.455882	NM_001113202		Silent	SNP	ENST00000454682.1	37																																																																																				.	.	none		0.488	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		T	57118252	C	T	57118252	2	4	35	1	0	0	0	0	0	0	0	1	10133	796	28	2		2	NACA	12	57118252	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	564169	57118252	76733643	241	23468										
TAC3	6866	hgsc.bcm.edu	37	chr12	57407443	57407443	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctctggagcagctggtagaGatctggatccctctagggaa	13	9	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:57407443G>A	ENST00000458521.2	-	3	286	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	TAC3_ENST00000415231.1_Missense_Mutation_p.L43F|TAC3_ENST00000441881.1_Missense_Mutation_p.L43F	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	43					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGCTGGTAGAGATCTGGATCC	0.567																																					p.L43F		Atlas-SNP	.											.	TAC3	11	.	0			c.C127T						PASS	.						40	42	41					12																	57407443		2203	4300	6503	SO:0001583	missense	6866	exon3			GGTAGAGATCTGG	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.127C>T	12.37:g.57407443G>A	ENSP00000404056:p.Leu43Phe	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	38	19	0.5	NM_013251	Q6IAG2|Q71BC6|Q71BC9	Missense_Mutation	SNP	ENST00000458521.2	37	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686261	0.47991	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	D;D;D	0.86297	-2.1;-1.95;-2.1	6.02	2.15	0.27550	.	0.345998	0.26528	N	0.023870	T	0.76314	0.3970	L	0.34521	1.04	0.09310	N	1	P;P	0.39326	0.668;0.617	B;B	0.36808	0.233;0.15	T	0.66143	-0.5997	10	0.44086	T	0.13	-0.3145	5.0391	0.14449	0.1546:0.0:0.5513:0.2942	.	43;43	Q9UHF0;Q9UHF0-3	TKNK_HUMAN;.	F	43	ENSP00000404056:L43F;ENSP00000408208:L43F;ENSP00000402995:L43F	ENSP00000300108:L43F	L	-	1	0	TAC3	55693710	0.002000	0.14202	0.000000	0.03702	0.016000	0.09150	0.337000	0.19841	0.130000	0.18549	-0.181000	0.13052	CTC	.	.	none		0.567	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		A	57407443	G	A	57407443	3	1	35	1	0	0	0	0	1	0	0	0	15496	942	33	2	254	2	TAC3	12	57407443	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	289191	57407443	76444452	242	23469										
STAT6	6778	hgsc.bcm.edu	37	chr12	57492825	57492825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cggtcatcttgatggtagctGggacataacccctgccatcc	10	13	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:57492825G>A	ENST00000300134.3	-	17	2253	c.1928C>T	c.(1927-1929)cCa>cTa	p.P643L	STAT6_ENST00000537215.2_Missense_Mutation_p.P533L|STAT6_ENST00000454075.3_Missense_Mutation_p.P643L|STAT6_ENST00000543873.2_Missense_Mutation_p.P643L|STAT6_ENST00000556155.1_Missense_Mutation_p.P643L|STAT6_ENST00000538913.2_Missense_Mutation_p.P533L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	643					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATGGTAGCTGGGACATAACC	0.537																																					p.P643L		Atlas-SNP	.											.	STAT6	69	.	0			c.C1928T						PASS	.						279	231	247					12																	57492825		2203	4300	6503	SO:0001583	missense	6778	exon17			GTAGCTGGGACAT	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1928C>T	12.37:g.57492825G>A	ENSP00000300134:p.Pro643Leu	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	71	18	0.253521	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639707	0.87760	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.77	5.77	0.91146	SH2 motif (1);	0.058012	0.64402	D	0.000002	D	0.95010	0.8385	N	0.24115	0.695	0.80722	D	1	P;P	0.52577	0.745;0.954	B;P	0.53450	0.351;0.726	D	0.95186	0.8304	10	0.56958	D	0.05	-3.6578	15.4962	0.75653	0.0:0.0:1.0:0.0	.	643;643	A8K4S9;P42226	.;STAT6_HUMAN	L	643;533;533;643;643;533;643;533;71;643	ENSP00000300134:P643L;ENSP00000445409:P533L;ENSP00000438451:P643L;ENSP00000451742:P643L;ENSP00000444530:P533L;ENSP00000401486:P643L;ENSP00000450428:P71L	ENSP00000300134:P643L	P	-	2	0	STAT6	55779092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.807000	0.69157	2.744000	0.94065	0.561000	0.74099	CCA	.	.	none		0.537	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		A	57492825	G	A	57492825	3	1	35	1	0	0	0	0	1	0	0	0	15269	1348	47	2	639	2	STAT6	12	57492825	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	85382	57492825	76359070	243	23470										
STAT6	6778	hgsc.bcm.edu	37	chr12	57496658	57496658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggatagtggctttggcattgTtgtcttggttgccatggacg	15	6	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:57496658T>C	ENST00000300134.3	-	12	1584	c.1259A>G	c.(1258-1260)aAc>aGc	p.N420S	STAT6_ENST00000537215.2_Missense_Mutation_p.N310S|STAT6_ENST00000454075.3_Missense_Mutation_p.N420S|STAT6_ENST00000543873.2_Missense_Mutation_p.N420S|STAT6_ENST00000556155.1_Missense_Mutation_p.N420S|STAT6_ENST00000538913.2_Missense_Mutation_p.N310S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	420					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TTTGGCATTGTTGTCTTGGTT	0.507																																					p.N420S		Atlas-SNP	.											.	STAT6	69	.	0			c.A1259G						PASS	.						144	116	125					12																	57496658		2203	4300	6503	SO:0001583	missense	6778	exon12			GCATTGTTGTCTT	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1259A>G	12.37:g.57496658T>C	ENSP00000300134:p.Asn420Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	84	11	0.130952	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159974	0.78226	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.44	5.44	0.79542	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.044809	0.85682	D	0.000000	D	0.87220	0.6123	N	0.17082	0.46	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.978	D	0.86277	0.1665	10	0.31617	T	0.26	-29.4754	13.4858	0.61364	0.0:0.0:0.0:1.0	.	420;420	A8K4S9;P42226	.;STAT6_HUMAN	S	420;310;310;420;420;310;420;310;420	ENSP00000300134:N420S;ENSP00000445409:N310S;ENSP00000438451:N420S;ENSP00000451742:N420S;ENSP00000444530:N310S;ENSP00000401486:N420S	ENSP00000300134:N420S	N	-	2	0	STAT6	55782925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.728000	0.62000	2.285000	0.76669	0.528000	0.53228	AAC	.	.	none		0.507	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		C	57496658	T	C	57496658	3	2	35	1	0	0	0	0	1	0	0	0	15269	1725	60	2	1328	2	STAT6	12	57496658	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	3833	57496658	76355237	244	23471										
TSPAN31	6302	hgsc.bcm.edu	37	chr12	58139640	58139640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggagtcttccttctccttaTtgcagtggctggactggtgg	14	9	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:58139640T>C	ENST00000257910.3	+	2	450	c.176T>C	c.(175-177)aTt>aCt	p.I59T	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000547992.1_Missense_Mutation_p.I59T|TSPAN31_ENST00000553221.1_3'UTR	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	59					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCTCCTTATTGCAGTGGCT	0.582																																					p.I59T		Atlas-SNP	.											.	TSPAN31	20	.	0			c.T176C						PASS	.						105	94	98					12																	58139640		2203	4300	6503	SO:0001583	missense	6302	exon2			TCCTTATTGCAGT		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.176T>C	12.37:g.58139640T>C	ENSP00000257910:p.Ile59Thr	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	162	80	0.493827	NM_005981	O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566696	0.86439	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.80653	-1.4	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.88829	0.6543	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.85130	0.978;0.997	D	0.88313	0.2957	10	0.36615	T	0.2	-6.2344	13.35	0.60597	0.0:0.0:0.0:1.0	.	59;59	F8VS78;Q12999	.;TSN31_HUMAN	T	59	ENSP00000257910:I59T	ENSP00000257910:I59T	I	+	2	0	TSPAN31	56425907	1.000000	0.71417	0.934000	0.37439	0.960000	0.62799	7.506000	0.81665	2.053000	0.61076	0.377000	0.23210	ATT	.	.	none		0.582	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			C	58139640	T	C	58139640	3	2	35	1	0	0	0	0	1	0	0	0	16643	1493	52	2	182	2	TSPAN31	12	58139640	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	642982	58139640	75712255	245	23472										
C12orf66	144577	hgsc.bcm.edu	37	chr12	64587914	64587914	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtcgctgggcagagacactAcagctggatactggtccaca	12	11	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:64587914A>T	ENST00000398055.3	-	3	1099	c.1046T>A	c.(1045-1047)gTa>gAa	p.V349E	C12orf66_ENST00000544871.1_Missense_Mutation_p.V296E|C12orf66_ENST00000311915.8_Missense_Mutation_p.V349E	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	349										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAGACACTACAGCTGGATA	0.522																																					p.V349E		Atlas-SNP	.											.	C12orf66	28	.	0			c.T1046A						PASS	.						83	81	81					12																	64587914		1984	4157	6141	SO:0001583	missense	144577	exon3			GACACTACAGCTG		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1046T>A	12.37:g.64587914A>T	ENSP00000381132:p.Val349Glu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	110	14	0.127273	NM_152440	C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200407	0.58126	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.41065	1.01;1.01;1.01	6.07	6.07	0.98685	.	0.109673	0.64402	D	0.000006	T	0.56673	0.2001	M	0.63843	1.955	0.80722	D	1	P;P	0.49783	0.852;0.928	P;P	0.54965	0.555;0.765	T	0.54036	-0.8353	9	.	.	.	-18.644	16.6406	0.85098	1.0:0.0:0.0:0.0	.	296;349	F5H2Q3;Q96MD2	.;CL066_HUMAN	E	349;296;349	ENSP00000311486:V349E;ENSP00000445481:V296E;ENSP00000381132:V349E	.	V	-	2	0	C12orf66	62874181	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	9.262000	0.95591	2.326000	0.78906	0.533000	0.62120	GTA	.	.	none		0.522	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		T	64587914	A	T	64587914	3	4	35	1	0	0	0	0	1	0	0	0	1709	391	14	5	295	5	C12orf66	12	64587914	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	6448274	64587914	69263981	246	23473										
LEMD3	23592	hgsc.bcm.edu	37	chr12	65564345	65564345	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcgatgaatgacagggcggcGgctgccgggagtctagacag	18	9	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:65564345G>T	ENST00000308330.2	+	1	995	c.969G>T	c.(967-969)gcG>gcT	p.A323A	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	323	Poly-Ala.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		ACAGGGCGGCGGCTGCCGGGA	0.642																																					p.A323A		Atlas-SNP	.											.	LEMD3	68	.	0			c.G969T						PASS	.						22	26	25					12																	65564345		2203	4300	6503	SO:0001819	synonymous_variant	23592	exon1			GGCGGCGGCTGCC	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.969G>T	12.37:g.65564345G>T		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	32	16	0.5	NM_001167614	Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	CCDS8972.1																																																																																			.	.	none		0.642	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			T	65564345	G	T	65564345	2	4	35	1	0	0	0	0	0	0	0	1	8721	1103	39	4		4	LEMD3	12	65564345	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	976431	65564345	68287550	247	23474										
CNOT2	4848	hgsc.bcm.edu	37	chr12	70724111	70724111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaatatgatgaaccactcccAggttggtcagggcattggaa	12	8	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:70724111A>G	ENST00000418359.3	+	7	882	c.431A>G	c.(430-432)cAg>cGg	p.Q144R	CNOT2_ENST00000229195.3_Missense_Mutation_p.Q144R|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	144					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AACCACTCCCAGGTTGGTCAG	0.418																																					p.Q144R		Atlas-SNP	.											CNOT2,colon,carcinoma,-1,1	CNOT2	53	1	0			c.A431G						PASS	.						112	106	108					12																	70724111		2203	4300	6503	SO:0001583	missense	4848	exon7			ACTCCCAGGTTGG	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.431A>G	12.37:g.70724111A>G	ENSP00000412091:p.Gln144Arg	Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	163	64	0.392638	NM_001199302	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385262	0.61956	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.46063	0.88;0.88;0.89;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.32530	0.975	0.80722	D	1	D	0.58268	0.982	P	0.54270	0.747	T	0.17868	-1.0355	10	0.16896	T	0.51	-2.8571	15.9985	0.80270	1.0:0.0:0.0:0.0	.	144	Q9NZN8	CNOT2_HUMAN	R	144;144;144;124;135;144;144;59;144	ENSP00000229195:Q144R;ENSP00000412091:Q144R;ENSP00000449659:Q135R;ENSP00000449260:Q144R	ENSP00000229195:Q144R	Q	+	2	0	CNOT2	69010378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.233000	0.73108	0.455000	0.32223	CAG	.	.	none		0.418	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			G	70724111	A	G	70724111	3	3	35	1	0	0	0	0	1	0	0	0	3619	188	7	3	449	3	CNOT2	12	70724111	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	5159766	70724111	63127784	248	23475										
TRHDE	29953	hgsc.bcm.edu	37	chr12	73046814	73046814	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggcttctaaatctgtcactGaattctgaggtggtgctgga	12	7	4	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:73046814G>A	ENST00000261180.4	+	17	2823	c.2727G>A	c.(2725-2727)ctG>ctA	p.L909L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	909					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCTGTCACTGAATTCTGAGG	0.343																																					p.L909L		Atlas-SNP	.											.	TRHDE	194	.	0			c.G2727A						PASS	.						75	75	75					12																	73046814		2203	4300	6503	SO:0001819	synonymous_variant	29953	exon17			GTCACTGAATTCT	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2727G>A	12.37:g.73046814G>A		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	134	60	0.447761	NM_013381	A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	CCDS9004.1																																																																																			.	.	none		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73046814	G	A	73046814	2	1	35	1	0	0	0	0	0	0	0	1	16476	1277	45	2		2	TRHDE	12	73046814	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2322703	73046814	60805081	249	23476										
ZDHHC17	23390	hgsc.bcm.edu	37	chr12	77243231	77243231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	actttaaagtcacaacaacgTctattgaaagcccattcaag	5	10	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:77243231T>G	ENST00000426126.2	+	16	2390	c.1741T>G	c.(1741-1743)Tct>Gct	p.S581A	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.S581A	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	581					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CACAACAACGTCTATTGAAAG	0.294																																					p.S581A		Atlas-SNP	.											.	ZDHHC17	45	.	0			c.T1741G						PASS	.						55	53	54					12																	77243231		1808	4057	5865	SO:0001583	missense	23390	exon16			ACAACGTCTATTG	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1741T>G	12.37:g.77243231T>G	ENSP00000403397:p.Ser581Ala	Somatic	342	0	0		WXS	Illumina HiSeq	Phase_I	328	38	0.115854	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178323	0.38511	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.32515	1.45;1.45	5.62	5.62	0.85841	.	.	.	.	.	T	0.25827	0.0629	L	0.36672	1.1	0.80722	D	1	P	0.40931	0.733	B	0.39935	0.314	T	0.03354	-1.1045	9	0.11794	T	0.64	-13.0474	15.8846	0.79238	0.0:0.0:0.0:1.0	.	581	Q8IUH5	ZDH17_HUMAN	A	581	ENSP00000403397:S581A;ENSP00000334868:S581A	ENSP00000334868:S581A	S	+	1	0	ZDHHC17	75767362	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.082000	0.71318	2.159000	0.67721	0.373000	0.22412	TCT	.	.	none		0.294	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77243231	T	G	77243231	3	3	35	1	0	0	0	0	1	0	0	0	17604	1667	58	5	1803	5	ZDHHC17	12	77243231	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	4196417	77243231	56608664	250	23477										
CCDC41	10154	hgsc.bcm.edu	37	chr12	94702622	94702622	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gatccaagttcctctagttgTtttctttgtgttgtttccag	8	8	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:94702622T>C	ENST00000258526.4	+	0	7346				CCDC41_ENST00000339839.5_Silent_p.K691K|CCDC41_ENST00000397809.5_Silent_p.K691K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						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)	p.K691K(1)		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						CCTCTAGTTGTTTTCTTTGTG	0.388																																					p.K691K		Atlas-SNP	.											CCDC41,NS,carcinoma,0,1	CCDC41	59	1	1	Substitution - coding silent(1)	kidney(1)	c.A2073G						PASS	.						218	195	202					12																	94702622		1864	4101	5965	SO:0001628	intergenic_variant	51134	exon17			TAGTTGTTTTCTT	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		12.37:g.94702622T>C		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	370	49	0.132432	NM_016122	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																			.	.	none		0.388	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			C	94702622	T	C	94702622	1	2	35	0	1	0	0	0	0	0	0	0	2813	1722	60	2		2	CCDC41	12	94702622	IGR	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	17459391	94702622	39149273	251	23478										
ACACB	32	hgsc.bcm.edu	37	chr12	109616950	109616950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgaagctggcccagcacgccCgtcacctggaagttcagatc	11	14	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:109616950C>T	ENST00000338432.7	+	10	1614	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ACACB_ENST00000377848.3_Missense_Mutation_p.R499C|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.R499C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	499	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAGCACGCCCGTCACCTGGA	0.572																																					p.R499C		Atlas-SNP	.											.	ACACB	330	.	0			c.C1495T						PASS	.						63	52	55					12																	109616950		2203	4300	6503	SO:0001583	missense	32	exon9			CACGCCCGTCACC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1495C>T	12.37:g.109616950C>T	ENSP00000341044:p.Arg499Cys	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	72	9	0.125	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365697	0.82463	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97941	-4.62;-4.62;-4.62	5.2	5.2	0.72013	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.106857	0.64402	D	0.000005	D	0.99369	0.9778	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98128	1.0429	10	0.87932	D	0	.	15.1597	0.72775	0.1415:0.8585:0.0:0.0	.	499	O00763	ACACB_HUMAN	C	499	ENSP00000341044:R499C;ENSP00000367079:R499C;ENSP00000367085:R499C	ENSP00000341044:R499C	R	+	1	0	ACACB	108101333	0.998000	0.40836	0.970000	0.41538	0.999000	0.98932	4.030000	0.57260	2.428000	0.82296	0.643000	0.83706	CGT	.	.	none		0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109616950	C	T	109616950	3	4	35	1	0	0	0	0	1	0	0	0	107	652	23	1	1529	1	ACACB	12	109616950	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	14914328	109616950	24234945	252	23479										
MYO1H	283446	hgsc.bcm.edu	37	chr12	109858795	109858795	+	Frame_Shift_Del	DEL	A	A	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgttttacaggattcttggAaaaaaacaatgatcttcttt							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:109858795delA	ENST00000431443.2	+	15	1589	c.1589delA	c.(1588-1590)gaafs	p.E530fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.E520fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	530	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.N522fs*9(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGATTCTTGGAAAAAAACAAT	0.303																																					p.E520fs		Atlas-Indel	.											.	MYO1H	98	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1558delG						PASS	.						66	64	64					12																	109858795		1793	4065	5858	SO:0001589	frameshift_variant	283446	exon15			.		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1589delA	12.37:g.109858795delA	ENSP00000444076:p.Glu530fs	Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	194	15	0.0773196	NM_001101421	F5H3C6	Frame_Shift_Del	DEL	ENST00000431443.2	37																																																																																				.	.	none		0.303	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		-	109858795	A	-	109858795	7	5	35	1	0	1	0	1	0	0	0	0	10075	246	9	0	1617	0	MYO1H	12	109858795	Frame_Shift_Del	DEL	A	TCGA-GS-A9TZ-01A-11D-A38X-10	241845	109858795	23993100	253	23480										
EP400	57634	hgsc.bcm.edu	37	chr12	132498342	132498342	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgacacagccatttattttGaggagaactaagagagatgt	11	5	0	5			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr12:132498342G>A	ENST00000333577.4	+	20	4024	c.3915G>A	c.(3913-3915)ttG>ttA	p.L1305L	EP400_ENST00000389561.2_Silent_p.L1269L|EP400_ENST00000330386.6_Silent_p.L1269L|EP400_ENST00000389562.2_Silent_p.L1268L|EP400_ENST00000332482.4_Silent_p.L1232L			Q96L91	EP400_HUMAN	E1A binding protein p400	1305	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATTTATTTTGAGGAGAACTA	0.363																																					p.L1269L		Atlas-SNP	.											.	EP400	370	.	0			c.G3807A						PASS	.						109	106	107					12																	132498342		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon19			TATTTTGAGGAGA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3915G>A	12.37:g.132498342G>A		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	84	35	0.416667	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.	.	none		0.363	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132498342	G	A	132498342	2	1	35	1	0	0	0	0	0	0	0	1	5149	1281	45	2		2	EP400	12	132498342	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	22639547	132498342	1353553	254	23481										
ATP12A	479	hgsc.bcm.edu	37	chr13	25285537	25285537	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cggaagctcttcatcaggctCtaccctggaagtgagtagcc	11	12	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:25285537C>T	ENST00000381946.3	+	22	3248	c.3081C>T	c.(3079-3081)ctC>ctT	p.L1027L	ATP12A_ENST00000218548.6_Silent_p.L1033L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	1027					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCATCAGGCTCTACCCTGGAA	0.498																																					p.L1033L	Pancreas(156;1582 1935 18898 22665 26498)	Atlas-SNP	.											.	ATP12A	172	.	0			c.C3099T						PASS	.						109	97	101					13																	25285537		2203	4300	6503	SO:0001819	synonymous_variant	479	exon22			CAGGCTCTACCCT	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.3081C>T	13.37:g.25285537C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	111	21	0.189189	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																			.	.	none		0.498	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25285537	C	T	25285537	2	4	35	1	0	0	0	0	0	0	0	1	1122	900	32	2		2	ATP12A	13	25285537	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		25285537	89884341	255	23482										
FLT1	2321	hgsc.bcm.edu	37	chr13	28886173	28886173	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aatcacctagtttttccacaAgttctgcaaatcttggcctt	5	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:28886173A>C	ENST00000282397.4	-	26	3700	c.3449T>G	c.(3448-3450)cTt>cGt	p.L1150R	FLT1_ENST00000543394.1_Missense_Mutation_p.L173R|FLT1_ENST00000540678.1_Missense_Mutation_p.L368R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTCCACAAGTTCTGCAAA	0.413																																					p.L1150R		Atlas-SNP	.											.	FLT1	393	.	0			c.T3449G						PASS	.						109	106	107					13																	28886173		2203	4300	6503	SO:0001583	missense	2321	exon26			TCCACAAGTTCTG	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3449T>G	13.37:g.28886173A>C	ENSP00000282397:p.Leu1150Arg	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	65	15	0.230769	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607815	0.87258	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.91124	-2.79;-2.79;-2.79	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.96355	0.8811	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97128	0.9816	10	0.87932	D	0	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	1150	P17948	VGFR1_HUMAN	R	1150;173;368	ENSP00000282397:L1150R;ENSP00000437841:L173R;ENSP00000443311:L368R	ENSP00000282397:L1150R	L	-	2	0	FLT1	27784173	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	9.310000	0.96267	2.271000	0.75665	0.533000	0.62120	CTT	.	.	none		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28886173	A	C	28886173	3	2	35	1	0	0	0	0	1	0	0	0	5941	72	3	5	587	5	FLT1	13	28886173	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	3600636	28886173	86283705	256	23483										
BRCA2	675	hgsc.bcm.edu	37	chr13	32906689	32906689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tactcatttgtatctgaagtGgaaccaaatgatactgatcc	7	8	2	3	rs276174805		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:32906689G>A	ENST00000380152.3	+	10	1307	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V	BRCA2_ENST00000544455.1_Silent_p.V358V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	358					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATCTGAAGTGGAACCAAATG	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.V358V	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	.	BRCA2	812	.	0			c.G1074A						PASS	.						140	159	153					13																	32906689		2194	4296	6490	SO:0001819	synonymous_variant	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	TGAAGTGGAACCA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1074G>A	13.37:g.32906689G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	89	14	0.157303	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																			.	.	alt		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32906689	G	A	32906689	2	1	35	1	0	0	0	0	0	0	0	1	1499	1335	47	2		2	BRCA2	13	32906689	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4020516	32906689	82263189	257	23484										
ENOX1	55068	hgsc.bcm.edu	37	chr13	43918835	43918835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcgccgattcacttcccctCgttcaatccaggaaagcagc	8	15	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:43918835C>T	ENST00000261488.6	-	9	1452	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	ENOX1_ENST00000540032.1_Missense_Mutation_p.R105Q|ENOX1_ENST00000412891.1_Missense_Mutation_p.R292Q	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	292					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CACTTCCCCTCGTTCAATCCA	0.478																																					p.R292Q		Atlas-SNP	.											ENOX1_ENST00000261488,NS,malignant_melanoma,0,2	ENOX1	158	2	0			c.G875A						PASS	.						120	110	113					13																	43918835		2203	4300	6503	SO:0001583	missense	55068	exon9			TCCCCTCGTTCAA	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.875G>A	13.37:g.43918835C>T	ENSP00000261488:p.Arg292Gln	Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	128	42	0.328125	NM_017993	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827798	0.90955	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.61040	0.14;0.14	5.92	5.08	0.68730	.	0.129804	0.51477	D	0.000083	T	0.76278	0.3965	M	0.78637	2.42	0.52501	D	0.999951	D;P	0.89917	1.0;0.725	D;B	0.87578	0.998;0.116	T	0.79792	-0.1654	10	0.72032	D	0.01	0.0067	14.8382	0.70201	0.0:0.9314:0.0:0.0686	.	105;292	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	Q	292;292;105	ENSP00000261488:R292Q;ENSP00000415054:R292Q	ENSP00000261488:R292Q	R	-	2	0	ENOX1	42816835	1.000000	0.71417	0.382000	0.26119	0.968000	0.65278	7.487000	0.81328	1.502000	0.48669	0.655000	0.94253	CGA	.	.	none		0.478	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		T	43918835	C	T	43918835	3	4	35	1	0	0	0	0	1	0	0	0	5126	884	31	1	1092	1	ENOX1	13	43918835	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	11012146	43918835	71251043	258	23485										
KLHL1	57626	hgsc.bcm.edu	37	chr13	70681527	70681527	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caggagccccttgctgcagcCtcgtggcaactggaagcagg	14	13	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:70681527C>G	ENST00000377844.4	-	1	1064	c.305G>C	c.(304-306)aGg>aCg	p.R102T	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	102					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGCTGCAGCCTCGTGGCAAC	0.592																																					p.R102T		Atlas-SNP	.											.	KLHL1	164	.	0			c.G305C						PASS	.						51	52	52					13																	70681527		2203	4300	6503	SO:0001583	missense	57626	exon1			TGCAGCCTCGTGG	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.305G>C	13.37:g.70681527C>G	ENSP00000367075:p.Arg102Thr	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	90	14	0.155556	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263076	0.39995	.	.	ENSG00000150361	ENST00000377844	T	0.74315	-0.83	5.45	4.6	0.57074	.	4.002300	0.00166	N	0.000008	T	0.68476	0.3005	L	0.36672	1.1	0.80722	D	1	B;B	0.32324	0.364;0.111	B;B	0.27170	0.077;0.026	T	0.32214	-0.9915	10	0.15952	T	0.53	.	13.6724	0.62434	0.1547:0.8452:0.0:0.0	.	102;102	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	T	102	ENSP00000367075:R102T	ENSP00000367075:R102T	R	-	2	0	KLHL1	69579528	0.999000	0.42202	0.901000	0.35422	0.991000	0.79684	3.513000	0.53414	1.279000	0.44446	0.655000	0.94253	AGG	.	.	none		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		G	70681527	C	G	70681527	3	3	35	1	0	0	0	0	1	0	0	0	8365	681	24	4	1985	4	KLHL1	13	70681527	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	26762692	70681527	44488351	259	23486										
SPRY2	10253	hgsc.bcm.edu	37	chr13	80911241	80911241	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caaaggcactgcttgtcgcaGatccagtctgatggcagagg	13	10	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:80911241G>T	ENST00000377102.1	-	2	1577	c.600C>A	c.(598-600)atC>atA	p.I200I	SPRY2_ENST00000377104.3_Silent_p.I200I|SPRY2_ENST00000540649.1_Silent_p.I200I			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	200	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GCTTGTCGCAGATCCAGTCTG	0.512																																					p.I200I		Atlas-SNP	.											.	SPRY2	28	.	0			c.C600A						PASS	.						111	95	100					13																	80911241		2203	4300	6503	SO:0001819	synonymous_variant	10253	exon2			GTCGCAGATCCAG	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.600C>A	13.37:g.80911241G>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	65	12	0.184615	NM_005842	B2R9J9|Q5T6Z7	Silent	SNP	ENST00000377102.1	37	CCDS9463.1																																																																																			.	.	none		0.512	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			T	80911241	G	T	80911241	2	4	35	1	0	0	0	0	0	0	0	1	15105	932	33	4		4	SPRY2	13	80911241	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10229714	80911241	34258637	260	23487										
MCF2L	23263	hgsc.bcm.edu	37	chr13	113724398	113724398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tggcccagctgaacgaaaccGaggctgccttcgatgagttc	12	12	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr13:113724398G>A	ENST00000375608.3	+	10	1055	c.997G>A	c.(997-999)Gag>Aag	p.E333K	MCF2L_ENST00000442652.2_Missense_Mutation_p.E333K|MCF2L_ENST00000375601.3_Missense_Mutation_p.E307K|MCF2L_ENST00000397030.1_Missense_Mutation_p.E336K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E301K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E309K|MCF2L_ENST00000423482.2_Missense_Mutation_p.E301K|MCF2L_ENST00000421756.1_Missense_Mutation_p.E307K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E360K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E303K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	333					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAACGAAACCGAGGCTGCCTT	0.622																																					p.E303K		Atlas-SNP	.											.	MCF2L	182	.	0			c.G907A						PASS	.						122	97	106					13																	113724398		2203	4300	6503	SO:0001583	missense	23263	exon9			GAAACCGAGGCTG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.997G>A	13.37:g.113724398G>A	ENSP00000364758:p.Glu333Lys	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	31	12	0.387097	NM_001112732	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.551254	0.86127	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.58	4.74	0.60224	.	0.053333	0.64402	N	0.000001	T	0.62816	0.2459	M	0.84511	2.7	0.47441	D	0.999425	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.994;0.983;0.994	D;D;D;P;P;P	0.68943	0.916;0.961;0.916;0.711;0.78;0.827	T	0.70153	-0.4950	10	0.87932	D	0	.	14.1951	0.65664	0.0719:0.0:0.9281:0.0	.	301;303;360;265;301;333	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	K	333;333;360;336;303;307;307;309;301;301;144	ENSP00000364758:E333K;ENSP00000401422:E333K;ENSP00000364754:E360K;ENSP00000380225:E336K;ENSP00000440374:E303K;ENSP00000397285:E307K;ENSP00000364751:E307K;ENSP00000407722:E309K;ENSP00000405639:E301K;ENSP00000364747:E301K	ENSP00000364747:E301K	E	+	1	0	MCF2L	112772399	1.000000	0.71417	0.871000	0.34182	0.522000	0.34438	9.180000	0.94867	1.356000	0.45884	0.655000	0.94253	GAG	.	.	none		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			A	113724398	G	A	113724398	3	1	35	1	0	0	0	0	1	0	0	0	9379	1059	37	1	1207	1	MCF2L	13	113724398	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	32813157	113724398	1445480	261	23488										
OR6S1	341799	hgsc.bcm.edu	37	chr14	21109391	21109391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	accaagcacagggacgagtcCccccacccagcaggccaagg	11	17	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:21109391C>T	ENST00000320704.3	-	1	459	c.460G>A	c.(460-462)Gga>Aga	p.G154R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGGACGAGTCCCCCCACCCAG	0.607																																					p.G154R		Atlas-SNP	.											.	OR6S1	49	.	0			c.G460A						PASS	.						84	68	73					14																	21109391		2203	4300	6503	SO:0001583	missense	341799	exon1			CGAGTCCCCCCAC	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.460G>A	14.37:g.21109391C>T	ENSP00000313110:p.Gly154Arg	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	53	15	0.283019	NM_001001968	Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554076	0.45487	.	.	ENSG00000181803	ENST00000320704	T	0.40476	1.03	5.76	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.71031	0.3292	M	0.92268	3.29	0.35185	D	0.772818	D	0.89917	1.0	D	0.87578	0.998	D	0.83841	0.0257	10	0.87932	D	0	-6.6133	12.5635	0.56295	0.0:0.9197:0.0:0.0803	.	154	Q8NH40	OR6S1_HUMAN	R	154	ENSP00000313110:G154R	ENSP00000313110:G154R	G	-	1	0	OR6S1	20179231	0.032000	0.19561	0.995000	0.50966	0.276000	0.26787	1.890000	0.39728	1.443000	0.47586	-0.136000	0.14681	GGA	.	.	none		0.607	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			T	21109391	C	T	21109391	3	4	35	1	0	0	0	0	1	0	0	0	11209	632	22	2	539	2	OR6S1	14	21109391	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		21109391	86240149	262	23489										
CTAGE5	4253	hgsc.bcm.edu	37	chr14	39819363	39819363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccccaagacctggatttttCcccccacccccacattctga	4	20	1	2	rs529369922		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:39819363C>A	ENST00000280083.3	+	24	2624	c.2310C>A	c.(2308-2310)ttC>ttA	p.F770L	CTAGE5_ENST00000348007.3_Missense_Mutation_p.F727L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F695L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F690L|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F758L|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.F1305L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F741L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F741L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F741L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F775L			O15320	CTGE5_HUMAN	CTAGE family, member 5	770	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CTGGATTTTTCCCCCCACCCC	0.448																																					p.F775L		Atlas-SNP	.											CTAGE5,colon,carcinoma,0,1	CTAGE5	75	1	0			c.C2325A						scavenged	.																																			SO:0001583	missense	4253	exon24			ATTTTTCCCCCCA	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2310C>A	14.37:g.39819363C>A	ENSP00000280083:p.Phe770Leu	Somatic	190	2	0.0105263		WXS	Illumina HiSeq	Phase_I	144	53	0.368056	NM_001247989	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238787	0.22711	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T	0.08102	3.29;3.13;3.13;3.15;3.43;3.43;3.14;3.45;3.15	5.24	0.284	0.15701	.	0.224065	0.22932	N	0.053900	T	0.04543	0.0124	L	0.31664	0.95	0.23076	N	0.998332	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.004	T	0.39251	-0.9623	9	.	.	.	.	2.0465	0.03561	0.1196:0.458:0.1299:0.2924	.	775;727;770;698;758	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	L	1305;758;690;638;741;775;770;695;727;741	ENSP00000452252:F1305L;ENSP00000343897:F758L;ENSP00000450869:F690L;ENSP00000379468:F741L;ENSP00000379462:F775L;ENSP00000280083:F770L;ENSP00000452562:F695L;ENSP00000343912:F727L;ENSP00000450449:F741L	.	F	+	3	2	CTAGE5;RP11-407N17.3	38889114	0.007000	0.16637	0.137000	0.22149	0.838000	0.47535	-0.443000	0.06862	-0.253000	0.09514	-0.261000	0.10672	TTC	.	.	none		0.448	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		A	39819363	C	A	39819363	3	1	35	1	0	0	0	0	1	0	0	0	3994	854	30	4	2435	4	CTAGE5	14	39819363	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	18709972	39819363	67530177	263	23490										
C14orf138	79609	hgsc.bcm.edu	37	chr14	50583173	50583173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aacccacgccaccggagctaTactgctgtagtcgtagcact	9	14	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:50583173T>C	ENST00000395860.2	-	1	102	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	VCPKMT_ENST00000395859.2_Missense_Mutation_p.Y33C	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN	valosin containing protein lysine (K) methyltransferase	33					peptidyl-lysine trimethylation (GO:0018023)	cytoplasm (GO:0005737)	protein-lysine N-methyltransferase activity (GO:0016279)										ACCGGAGCTATACTGCTGTAG	0.592																																					p.Y33C		Atlas-SNP	.											.	METTL21D	11	.	0			c.A98G						PASS	.						60	64	63					14																	50583173		2203	4300	6503	SO:0001583	missense	79609	exon1			GAGCTATACTGCT	AK023982	CCDS9696.2, CCDS41951.1	14q21.3	2013-09-30	2013-09-30	2013-09-30	ENSG00000100483	ENSG00000100483			20352	protein-coding gene	gene with protein product		615260	"chromosome 14 open reading frame 138", "methyltransferase like 21D"	C14orf138, METTL21D		22948820	Standard	NR_049738		Approved	VCP-KMT	uc001wxo.1	Q9H867	OTTHUMG00000029531	ENST00000395860.2:c.98A>G	14.37:g.50583173T>C	ENSP00000379201:p.Tyr33Cys	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_024558	B7ZLA3|B7ZLA4|Q2M2X3|Q86T12	Missense_Mutation	SNP	ENST00000395860.2	37	CCDS9696.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595533	0.46318	.	.	ENSG00000100483	ENST00000395859;ENST00000395860	T;T	0.06528	3.29;3.29	6.06	6.06	0.98353	.	0.404301	0.27821	N	0.017709	T	0.03263	0.0095	N	0.05414	-0.055	0.35578	D	0.806016	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.002	T	0.39313	-0.9620	10	0.38643	T	0.18	-3.7456	4.4545	0.11637	0.1689:0.1059:0.0:0.7251	.	33;33	B7ZLA4;Q9H867	.;MT21D_HUMAN	C	33	ENSP00000379200:Y33C;ENSP00000379201:Y33C	ENSP00000379200:Y33C	Y	-	2	0	METTL21D	49652923	0.996000	0.38824	0.966000	0.40874	0.953000	0.61014	3.034000	0.49751	2.323000	0.78572	0.528000	0.53228	TAT	.	.	none		0.592	VCPKMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276877.1	NM_024558		C	50583173	T	C	50583173	3	2	35	1	0	0	0	0	1	0	0	0	1746	1406	49	2	615	2	C14orf138	14	50583173	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	10763810	50583173	56766367	264	23491										
KCNH5	27133	hgsc.bcm.edu	37	chr14	63175121	63175121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggtcacctcattcttctgcCggaggcgctcctcctcctct	9	17	5	0	rs200737420		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:63175121C>T	ENST00000322893.7	-	11	2340	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	691					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATTCTTCTGCCGGAGGCGCTC	0.512																																					p.R691Q		Atlas-SNP	.											KCNH5,NS,malignant_melanoma,-1,5	KCNH5	320	5	0			c.G2072A						PASS	.						91	97	95					14																	63175121		2203	4300	6503	SO:0001583	missense	27133	exon11			TTCTGCCGGAGGC	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2072G>A	14.37:g.63175121C>T	ENSP00000321427:p.Arg691Gln	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	75	12	0.16	NM_139318	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462267	0.63513	.	.	ENSG00000140015	ENST00000322893	T	0.16073	2.37	5.72	5.72	0.89469	.	0.061597	0.64402	D	0.000005	T	0.21841	0.0526	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	B	0.39503	0.301	T	0.02603	-1.1135	10	0.37606	T	0.19	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	691	Q8NCM2	KCNH5_HUMAN	Q	691	ENSP00000321427:R691Q	ENSP00000321427:R691Q	R	-	2	0	KCNH5	62244874	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	5.970000	0.70431	2.717000	0.92951	0.655000	0.94253	CGG	C|0.999;T|0.001	0.001	weak		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63175121	C	T	63175121	3	4	35	1	0	0	0	0	1	0	0	0	8035	652	23	1	898	1	KCNH5	14	63175121	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12591948	63175121	44174419	265	23492										
C14orf50	145376	hgsc.bcm.edu	37	chr14	65016722	65016722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tccagggcgaggccatgtacCgggtgcccgagttttatgcg	15	11	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:65016722C>T	ENST00000298705.1	+	1	103	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	3					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCCATGTACCGGGTGCCCGA	0.692																																					p.R3W		Atlas-SNP	.											C14orf50,NS,malignant_melanoma,0,1	.	.	1	0			c.C7T						PASS	.						36	27	30					14																	65016722		2185	4278	6463	SO:0001583	missense	145376	exon1			ATGTACCGGGTGC		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.7C>T	14.37:g.65016722C>T	ENSP00000298705:p.Arg3Trp	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	51	8	0.156863	NM_172365	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517625	0.27123	.	.	ENSG00000165807	ENST00000298705	T	0.32753	1.44	3.21	-0.892	0.10570	.	4.411120	0.00859	N	0.001907	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23119	-1.0197	10	0.66056	D	0.02	5.66	0.6167	0.00771	0.1968:0.3735:0.192:0.2377	.	3	Q96LQ0	PPR36_HUMAN	W	3	ENSP00000298705:R3W	ENSP00000298705:R3W	R	+	1	2	C14orf50	64086475	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.007000	0.12810	-0.198000	0.10333	-0.136000	0.14681	CGG	.	.	none		0.692	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		T	65016722	C	T	65016722	3	4	35	1	0	0	0	0	1	0	0	0	1777	643	23	1	9	1	C14orf50	14	65016722	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1841601	65016722	42332818	266	23493										
YLPM1	56252	hgsc.bcm.edu	37	chr14	75248627	75248627	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcccaccattgtcttcagcTacacctcctccaggaatacc	4	18	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:75248627T>C	ENST00000238571.3	+	4	1420	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	YLPM1_ENST00000552421.1_Silent_p.A627A|YLPM1_ENST00000325680.7_Silent_p.A627A			P49750	YLPM1_HUMAN	YLP motif containing 1	432					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGTCTTCAGCTACACCTCCTC	0.577																																					p.A627A		Atlas-SNP	.											.	YLPM1	298	.	0			c.T1881C						PASS	.						93	97	96					14																	75248627		2023	4188	6211	SO:0001630	splice_region_variant	56252	exon4			TTCAGCTACACCT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000238571.3:c.1295-1T>C	14.37:g.75248627T>C		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	144	24	0.166667	NM_019589	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000238571.3	37																																																																																				.	.	none		0.577	YLPM1-201	KNOWN	basic	protein_coding	protein_coding		NM_019589	Silent	C	75248627	T	C	75248627	5	2	35	1	0	0	0	0	0	0	1	0	17483	1509	53	3	1895	3	YLPM1	14	75248627	Splice_Site	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	10231905	75248627	32100913	267	23494										
RPS6KA5	9252	hgsc.bcm.edu	37	chr14	91367011	91367011	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggacgttcaactcccatgtGaaactgaagagggtctatga	11	8	2	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:91367011G>A	ENST00000261991.3	-	10	1362	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.H318Y|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.H397Y	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	397					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTCCCATGTGAAACTGAAGA	0.388																																					p.H397Y		Atlas-SNP	.											.	RPS6KA5	135	.	0			c.C1189T						PASS	.						80	75	77					14																	91367011		2203	4300	6503	SO:0001583	missense	9252	exon10			CCATGTGAAACTG	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1189C>T	14.37:g.91367011G>A	ENSP00000261991:p.His397Tyr	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	42	13	0.309524	NM_182398	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216402	0.09810	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.23754	1.89;1.89;1.89	4.9	4.9	0.64082	.	0.160682	0.64402	D	0.000020	T	0.12902	0.0313	N	0.12182	0.205	0.34711	D	0.727707	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.20840	-1.0263	10	0.15066	T	0.55	.	9.8505	0.41055	0.1294:0.0:0.8706:0.0	.	397;397	O75582-2;O75582	.;KS6A5_HUMAN	Y	397;318;397	ENSP00000261991:H397Y;ENSP00000442803:H318Y;ENSP00000402787:H397Y	ENSP00000261991:H397Y	H	-	1	0	RPS6KA5	90436764	0.982000	0.34865	0.518000	0.27811	0.650000	0.38633	3.427000	0.52785	2.424000	0.82194	0.655000	0.94253	CAC	.	.	none		0.388	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		A	91367011	G	A	91367011	3	1	35	1	0	0	0	0	1	0	0	0	13654	1290	45	2	1257	2	RPS6KA5	14	91367011	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	16118384	91367011	15982529	268	23495										
IFI27L2	83982	hgsc.bcm.edu	37	chr14	94594298	94594298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gacccaacagaggccaggagGatgttggatgatgtggagag	17	6	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:94594298G>A	ENST00000238609.3	-	4	330	c.231C>T	c.(229-231)atC>atT	p.I77I	IFI27L2_ENST00000556727.1_Silent_p.I52I	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	77						integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						AGGCCAGGAGGATGTTGGATG	0.582																																					p.I77I		Atlas-SNP	.											IFI27L2,NS,carcinoma,-2,1	IFI27L2	14	1	0			c.C231T						PASS	.						72	72	72					14																	94594298		2203	4300	6503	SO:0001819	synonymous_variant	83982	exon4			CAGGAGGATGTTG	AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"family with sequence similarity 14, member A"	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.231C>T	14.37:g.94594298G>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	110	17	0.154545	NM_032036	Q8TBD7|Q9NYL0	Silent	SNP	ENST00000238609.3	37	CCDS9920.1																																																																																			.	.	none		0.582	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036		A	94594298	G	A	94594298	2	1	35	1	0	0	0	0	0	0	0	1	7514	1164	41	2		2	IFI27L2	14	94594298	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3227287	94594298	12755242	269	23496										
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641876	99641876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctggaacttgaaggtcttgcCgcagaactcgcacgacttgc	11	12	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:99641876C>T	ENST00000357195.3	-	4	1306	c.1297G>A	c.(1297-1299)Ggc>Agc	p.G433S	BCL11B_ENST00000345514.2_Missense_Mutation_p.G362S|BCL11B_ENST00000443726.2_Missense_Mutation_p.G239S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	433					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AAGGTCTTGCCGCAGAACTCG	0.677			T	TLX3	T-ALL																																p.G433S		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,NS,carcinoma,+1,1	BCL11B	108	1	0			c.G1297A						PASS	.						24	26	26					14																	99641876		2201	4299	6500	SO:0001583	missense	64919	exon4			TCTTGCCGCAGAA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1297G>A	14.37:g.99641876C>T	ENSP00000349723:p.Gly433Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	40	19	0.475	NM_138576	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502207	0.85176	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.01455	4.87;4.87;4.87	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.075279	0.51477	D	0.000092	T	0.08670	0.0215	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.07233	-1.0783	10	0.87932	D	0	-14.2957	16.7085	0.85378	0.0:1.0:0.0:0.0	.	362;433	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	S	433;362;239	ENSP00000349723:G433S;ENSP00000280435:G362S;ENSP00000387419:G239S	ENSP00000280435:G362S	G	-	1	0	BCL11B	98711629	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.540000	0.82074	1.995000	0.58328	0.491000	0.48974	GGC	.	.	none		0.677	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99641876	C	T	99641876	3	4	35	1	0	0	0	0	1	0	0	0	1364	652	23	1	1391	1	BCL11B	14	99641876	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5047578	99641876	7707664	270	23497										
DYNC1H1	1778	hgsc.bcm.edu	37	chr14	102452967	102452967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggaggagcggaacaccatttCccttttggtggctggcttga	14	9	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr14:102452967C>T	ENST00000360184.4	+	8	2569	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	802	Interaction with DYNC1LI2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACACCATTTCCCTTTTGGTG	0.527																																					p.S802F		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.C2405T						PASS	.						140	130	134					14																	102452967		2203	4300	6503	SO:0001583	missense	1778	exon8			CCATTTCCCTTTT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2405C>T	14.37:g.102452967C>T	ENSP00000348965:p.Ser802Phe	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	120	38	0.316667	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298198	0.40694	.	.	ENSG00000197102	ENST00000360184	T	0.55052	0.54	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.059633	0.64402	D	0.000001	T	0.56934	0.2019	M	0.61703	1.905	0.58432	D	0.999999	P	0.38195	0.622	B	0.42422	0.387	T	0.59963	-0.7355	10	0.59425	D	0.04	.	15.3008	0.73949	0.0:0.8606:0.1394:0.0	.	802	Q14204	DYHC1_HUMAN	F	802	ENSP00000348965:S802F	ENSP00000348965:S802F	S	+	2	0	DYNC1H1	101522720	1.000000	0.71417	0.837000	0.33122	0.405000	0.30901	5.618000	0.67722	2.767000	0.95098	0.655000	0.94253	TCC	.	.	none		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102452967	C	T	102452967	3	4	35	1	0	0	0	0	1	0	0	0	4841	855	30	2	2435	2	DYNC1H1	14	102452967	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2811091	102452967	4896573	271	23498										
OR4N4	283694	hgsc.bcm.edu	37	chr15	22382649	22382649	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cctgggctcacagcccccctCtatttatttctgggcaactt	7	15	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:22382649C>G	ENST00000328795.4	+	1	268	c.177C>G	c.(175-177)ctC>ctG	p.L59L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	59						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGCCCCCCTCTATTTATTTC	0.453																																					p.L59L		Atlas-SNP	.											.	OR4N4	108	.	0			c.C177G						PASS	.						132	137	135					15																	22382649		2200	4292	6492	SO:0001819	synonymous_variant	283694	exon1			CCCCCTCTATTTA	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.177C>G	15.37:g.22382649C>G		Somatic	447	0	0		WXS	Illumina HiSeq	Phase_I	409	59	0.144254	NM_001005241	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																			.	.	none		0.453	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22382649	C	G	22382649	2	3	35	1	0	0	0	0	0	0	0	1	11078	900	32	4		4	OR4N4	15	22382649	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		22382649	80148743	272	23499										
ARHGAP11A	9824	hgsc.bcm.edu	37	chr15	32929606	32929606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcaaatcagtgagctgtgacGgtgctctttcctcttgtata	9	9	4	2	rs144493501		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:32929606G>A	ENST00000361627.3	+	12	3354	c.2632G>A	c.(2632-2634)Ggt>Agt	p.G878S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.G689S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.G689S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	878					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAGCTGTGACGGTGCTCTTTC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		20692	0.0		0.001	False		,,,				2504	0.0				p.G878S	Colon(45;757 1134 30003 36652)	Atlas-SNP	.											.	ARHGAP11A	84	.	0			c.G2632A						PASS	.						129	135	133					15																	32929606		2201	4300	6501	SO:0001583	missense	9824	exon12			TGTGACGGTGCTC	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2632G>A	15.37:g.32929606G>A	ENSP00000355090:p.Gly878Ser	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	140	24	0.171429	NM_014783	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.014	-1.575382	0.00887	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.04551	3.6	5.67	-0.974	0.10293	.	0.628015	0.15860	N	0.241064	T	0.01092	0.0036	N	0.01048	-1.04	0.20563	N	0.999884	B	0.20550	0.046	B	0.10450	0.005	T	0.45071	-0.9286	10	0.02654	T	1	.	3.1354	0.06437	0.5049:0.1006:0.2866:0.108	.	878	Q6P4F7	RHGBA_HUMAN	S	878;689	ENSP00000355090:G878S	ENSP00000355090:G878S	G	+	1	0	ARHGAP11A	30716898	0.224000	0.23674	0.980000	0.43619	0.254000	0.26022	0.774000	0.26675	0.099000	0.17552	-1.320000	0.01293	GGT	G|1.000;A|0.000	0.000	strong		0.413	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		A	32929606	G	A	32929606	3	1	35	1	0	0	0	0	1	0	0	0	863	1116	39	1	2701	1	ARHGAP11A	15	32929606	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10546957	32929606	69601786	273	23500										
CDAN1	146059	hgsc.bcm.edu	37	chr15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccggcgggcctgcagccctCgctgcagcagagtccgcaca	13	18	0	1	rs201057681	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:43022925C>T	ENST00000356231.3	-	14	2068	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682					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)		p.R682Q(1)		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)		CTGCAGCCCTCGCTGCAGCAG	0.637													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17535	0.001		0.0	False		,,,				2504	0.0				p.R682Q		Atlas-SNP	.											CDAN1,bladder,carcinoma,0,1	CDAN1	70	1	1	Substitution - Missense(1)	urinary_tract(1)	c.G2045A						scavenged	.	C	GLN/ARG	0,4396		0,0,2198	19	22	21		2045	4.7	1	15		21	1,8571		0,1,4285	no	missense	CDAN1	NM_138477.2	43	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	benign	682/1228	43022925	1,12967	2198	4286	6484	SO:0001583	missense	146059	exon14			AGCCCTCGCTGCA	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.2045G>A	15.37:g.43022925C>T	ENSP00000348564:p.Arg682Gln	Somatic	71	1	0.0140845		WXS	Illumina HiSeq	Phase_I	65	21	0.323077	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.674	0.687680	0.14973	0.0	1.17E-4	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89343	-2.5	5.77	4.66	0.58398	.	0.414368	0.29053	N	0.013297	T	0.73087	0.3542	N	0.11651	0.15	0.27851	N	0.940738	B	0.06786	0.001	B	0.06405	0.002	T	0.57751	-0.7757	10	0.02654	T	1	-7.5903	8.3942	0.32546	0.0:0.2218:0.0:0.7782	.	682	Q8IWY9	CDAN1_HUMAN	Q	682;680	ENSP00000348564:R682Q	ENSP00000267892:R680Q	R	-	2	0	CDAN1	40810217	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.741000	0.26202	1.022000	0.39626	-0.302000	0.09304	CGA	C|1.000;T|0.000	0.000	strong		0.637	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		T	43022925	C	T	43022925	3	4	35	1	0	0	0	0	1	0	0	0	3054	884	31	1	1698	1	CDAN1	15	43022925	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	10093319	43022925	59508467	274	23501										
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814162	45814162	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagttggcaacacaactcacCtacaagttctccaatcatga	6	12	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814162C>G	ENST00000261867.4	-	2	705	c.391G>C	c.(391-393)Ggt>Cgt	p.G131R	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	131					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CACAACTCACCTACAAGTTCT	0.448																																					p.G131R		Atlas-SNP	.											.	SLC30A4	25	.	0			c.G391C						PASS	.						143	121	128					15																	45814162		2198	4298	6496	SO:0001630	splice_region_variant	7782	exon2			ACTCACCTACAAG		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.391+1G>C	15.37:g.45814162C>G		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	142	43	0.302817	NM_013309	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116162	0.94339	.	.	ENSG00000104154	ENST00000261867	T	0.64260	-0.09	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90865	0.4741	9	.	.	.	-18.5553	18.2257	0.89916	0.0:1.0:0.0:0.0	.	131	O14863	ZNT4_HUMAN	R	131	ENSP00000261867:G131R	.	G	-	1	0	SLC30A4	43601454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.307000	0.72815	2.653000	0.90120	0.655000	0.94253	GGT	.	.	none		0.448	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1		Missense_Mutation	G	45814162	C	G	45814162	5	3	35	1	0	0	0	0	0	0	1	0	14557	695	24	4	926	4	SLC30A4	15	45814162	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2791237	45814162	56717230	275	23502			2	104		6	5	332	N	T_G_C_A	1.350843e-11
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814226	45814226	+	Missense_Mutation	SNP	C	C	G													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atggtcaacctggctttcacCtttctctgcttcagtatctc							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814226C>G	ENST00000261867.4	-	2	641	c.327G>C	c.(325-327)aaG>aaC	p.K109N	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	109					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGGCTTTCACCTTTCTCTGCT	0.458																																					p.K109N		Atlas-SNP	.											.	SLC30A4	25	.	0			c.G327C						PASS	.						210	177	188					15																	45814226		2198	4298	6496	SO:0001583	missense	7782	exon2			TTTCACCTTTCTC		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.327G>C	15.37:g.45814226C>G	ENSP00000261867:p.Lys109Asn	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	155	32	0.206452	NM_013309	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776836	0.70107	.	.	ENSG00000104154	ENST00000261867	T	0.63913	-0.07	5.34	4.4	0.53042	.	0.239529	0.38005	N	0.001851	T	0.55369	0.1916	L	0.27053	0.805	0.50813	D	0.999898	P	0.50066	0.931	P	0.46629	0.522	T	0.59434	-0.7455	10	0.54805	T	0.06	-3.2851	14.5615	0.68140	0.0:0.8525:0.1474:0.0	.	109	O14863	ZNT4_HUMAN	N	109	ENSP00000261867:K109N	ENSP00000261867:K109N	K	-	3	2	SLC30A4	43601518	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.601000	0.36773	1.217000	0.43442	0.655000	0.94253	AAG	.	.	none		0.458	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			G	45814226	C	G	45814226	3	3	35	1	0	0	0	0	1	0	0	0	14557	680	24	4	990	4	SLC30A4	15	45814226	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	64	45814226	56717166	276	23503	478	2	2	104		6	5	332	N	T_G_C_A	1.350843e-11
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814228	45814228	+	Missense_Mutation	SNP	T	T	C													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtcaacctggctttcacctTtctctgcttcagtatctctc							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814228T>C	ENST00000261867.4	-	2	639	c.325A>G	c.(325-327)Aag>Gag	p.K109E	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	109					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GCTTTCACCTTTCTCTGCTTC	0.463																																					p.K109E		Atlas-SNP	.											.	SLC30A4	25	.	0			c.A325G						PASS	.						211	178	189					15																	45814228		2198	4298	6496	SO:0001583	missense	7782	exon2			TCACCTTTCTCTG		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.325A>G	15.37:g.45814228T>C	ENSP00000261867:p.Lys109Glu	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	153	32	0.20915	NM_013309	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283621	0.59867	.	.	ENSG00000104154	ENST00000261867	T	0.63417	-0.04	5.34	4.19	0.49359	.	0.239529	0.38005	N	0.001851	T	0.44993	0.1320	L	0.27053	0.805	0.40913	D	0.984245	P	0.42871	0.792	B	0.35182	0.197	T	0.43015	-0.9417	10	0.45353	T	0.12	-3.2851	11.2473	0.49004	0.0:0.0:0.1537:0.8463	.	109	O14863	ZNT4_HUMAN	E	109	ENSP00000261867:K109E	ENSP00000261867:K109E	K	-	1	0	SLC30A4	43601520	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.716000	0.54904	0.838000	0.34948	0.533000	0.62120	AAG	.	.	none		0.463	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			C	45814228	T	C	45814228	3	2	35	1	0	0	0	0	1	0	0	0	14557	1850	64	2	992	2	SLC30A4	15	45814228	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2	45814228	56717164	277	23504	478	2	2	104		6	5	332	N	T_G_C_A	1.350843e-11
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814252	45814252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgcttcagtatctctctctGtttgctgcagttgtcacagg	9	11	4	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814252G>T	ENST00000261867.4	-	2	615	c.301C>A	c.(301-303)Cag>Aag	p.Q101K	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	101					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATCTCTCTCTGTTTGCTGCAG	0.483																																					p.Q101K		Atlas-SNP	.											SLC30A4,bladder,carcinoma,+2,1	SLC30A4	25	1	0			c.C301A						PASS	.						202	176	185					15																	45814252		2198	4298	6496	SO:0001583	missense	7782	exon2			CTCTCTGTTTGCT		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.301C>A	15.37:g.45814252G>T	ENSP00000261867:p.Gln101Lys	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	143	30	0.20979	NM_013309	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312051	0.23821	.	.	ENSG00000104154	ENST00000261867	T	0.62364	0.03	5.23	5.23	0.72850	.	0.430782	0.27437	N	0.019367	T	0.44201	0.1282	N	0.12182	0.205	0.26034	N	0.981701	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.13470	T	0.59	-0.0024	17.3837	0.87411	0.0:0.0:1.0:0.0	.	101	O14863	ZNT4_HUMAN	K	101	ENSP00000261867:Q101K	ENSP00000261867:Q101K	Q	-	1	0	SLC30A4	43601544	1.000000	0.71417	0.046000	0.18839	0.932000	0.56968	5.303000	0.65738	2.449000	0.82847	0.655000	0.94253	CAG	.	.	none		0.483	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			T	45814252	G	T	45814252	3	4	35	1	0	0	0	0	1	0	0	0	14557	1386	48	4	1016	4	SLC30A4	15	45814252	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	24	45814252	56717140	278	23505			2	104		6	5	332	N	T_G_C_A	1.350843e-11
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814311	45814311	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctgactgttggtcaaaggtAagtcttggtccagtaaggaa	13	6	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814311A>T	ENST00000261867.4	-	2	556	c.242T>A	c.(241-243)tTa>tAa	p.L81*	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	81	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GGTCAAAGGTAAGTCTTGGTC	0.547																																					p.L81X		Atlas-SNP	.											.	SLC30A4	25	.	0			c.T242A						PASS	.						158	150	152					15																	45814311		2198	4298	6496	SO:0001587	stop_gained	7782	exon2			AAAGGTAAGTCTT		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.242T>A	15.37:g.45814311A>T	ENSP00000261867:p.Leu81*	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	97	27	0.278351	NM_013309	Q8TC39	Nonsense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	A	38	7.239480	0.98157	.	.	ENSG00000104154	ENST00000261867	.	.	.	5.23	1.3	0.21679	.	0.228496	0.38217	N	0.001763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-2.4494	7.0695	0.25171	0.6784:0.2421:0.0796:0.0	.	.	.	.	X	81	.	ENSP00000261867:L81X	L	-	2	0	SLC30A4	43601603	0.016000	0.18221	0.042000	0.18584	0.991000	0.79684	1.812000	0.38952	0.844000	0.35094	0.533000	0.62120	TTA	.	.	none		0.547	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			T	45814311	A	T	45814311	4	4	35	1	0	0	0	0	0	1	0	0	14557	372	13	5	1075	5	SLC30A4	15	45814311	Nonsense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	59	45814311	56717081	279	23506			2	104		6	5	332	N	T_G_C_A	1.350843e-11
SLC30A4	7782	hgsc.bcm.edu	37	chr15	45814493	45814493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctggtgtcatttaaaaacagCggcgcatcatccttccttag	8	11	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:45814493C>T	ENST00000261867.4	-	2	374	c.60G>A	c.(58-60)ccG>ccA	p.P20P	SLC30A4_ENST00000559667.1_5'Flank|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	20	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TTAAAAACAGCGGCGCATCAT	0.602																																					p.P20P		Atlas-SNP	.											.	SLC30A4	25	.	0			c.G60A						PASS	.						32	38	36					15																	45814493		2197	4298	6495	SO:0001819	synonymous_variant	7782	exon2			AAACAGCGGCGCA		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.60G>A	15.37:g.45814493C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_013309	Q8TC39	Silent	SNP	ENST00000261867.4	37	CCDS10125.1																																																																																			.	.	none		0.602	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			T	45814493	C	T	45814493	2	4	35	1	0	0	0	0	0	0	0	1	14557	755	27	1		1	SLC30A4	15	45814493	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	182	45814493	56716899	280	23507			2	104		6	5	332	N	T_G_C_A	1.350843e-11
UNC13C	440279	hgsc.bcm.edu	37	chr15	54860103	54860103	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtctttatacccaaactactGatgccttgataaagaaattc	5	9	1	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:54860103G>A	ENST00000260323.11	+	29	6064	c.6064G>A	c.(6064-6066)Gat>Aat	p.D2022N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D2022N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2020N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2022	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAAACTACTGATGCCTTGAT	0.358																																					p.D2022N		Atlas-SNP	.											.	UNC13C	674	.	0			c.G6064A						PASS	.						60	57	58					15																	54860103		1805	4071	5876	SO:0001583	missense	440279	exon28			ACTACTGATGCCT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6064G>A	15.37:g.54860103G>A	ENSP00000260323:p.Asp2022Asn	Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	175	48	0.274286	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271380	0.95429	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	5.81	0.92471	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88178	0.2869	10	0.59425	D	0.04	.	19.0637	0.93101	0.0:0.0:1.0:0.0	.	2022	Q8NB66	UN13C_HUMAN	N	2022;2022;2020	ENSP00000260323:D2022N;ENSP00000438156:D2022N;ENSP00000442569:D2020N	ENSP00000260323:D2022N	D	+	1	0	UNC13C	52647395	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.799000	0.99117	2.749000	0.94314	0.460000	0.39030	GAT	.	.	none		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54860103	G	A	54860103	3	1	35	1	0	0	0	0	1	0	0	0	16983	1290	45	2	6174	2	UNC13C	15	54860103	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	9045610	54860103	47671289	281	23508										
UACA	55075	hgsc.bcm.edu	37	chr15	70959921	70959926	+	In_Frame_Del	DEL	CTTTAA	CTTTAA	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgaagggtaaaaatctccttCtttaacttgtcattctcttg							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	CTTTAA	CTTTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:70959921_70959926delCTTTAA	ENST00000322954.6	-	16	3282_3287	c.3097_3102delTTAAAG	c.(3097-3102)ttaaagdel	p.LK1033del	UACA_ENST00000560441.1_In_Frame_Del_p.LK1018del|UACA_ENST00000379983.2_In_Frame_Del_p.LK1020del|UACA_ENST00000539319.1_In_Frame_Del_p.LK924del	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1033					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAATCTCCTTCTTTAACTTGTCATTC	0.364																																					p.1033_1035del		Pindel,Atlas-Indel	.											.	UACA	235	.	0			c.3098_3103del						PASS	.																																			SO:0001651	inframe_deletion	55075	exon16			.	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3097_3102delTTAAAG	15.37:g.70959921_70959926delCTTTAA	ENSP00000314556:p.Leu1033_Lys1034del	Somatic	266	.	.		WXS	Illumina HiSeq	Phase_I	218	33	0.151	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	In_Frame_Del	DEL	ENST00000322954.6	37	CCDS10235.1																																																																																			.	.	none		0.364	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			-	70959926	CTTTAA	-	70959921	7	5	35	1	0	1	0	1	0	0	0	0	16821	912	32	0	1164	0	UACA	15	70959921	In_Frame_Del	DEL	CTTTAA	TCGA-GS-A9TZ-01A-11D-A38X-10	16099818	70959921	31571471	282	23509										
UACA	55075	hgsc.bcm.edu	37	chr15	70961044	70961044	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	actgtctaatttcactaagtGatttttcatgttctctttcc	4	9	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:70961044G>A	ENST00000322954.6	-	16	2164	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	UACA_ENST00000560441.1_Missense_Mutation_p.S645L|UACA_ENST00000379983.2_Missense_Mutation_p.S647L|UACA_ENST00000539319.1_Missense_Mutation_p.S551L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	660					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCACTAAGTGATTTTTCATG	0.348																																					p.S660L		Atlas-SNP	.											.	UACA	235	.	0			c.C1979T						PASS	.						93	92	92					15																	70961044		2199	4297	6496	SO:0001583	missense	55075	exon16			CTAAGTGATTTTT	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1979C>T	15.37:g.70961044G>A	ENSP00000314556:p.Ser660Leu	Somatic	460	0	0		WXS	Illumina HiSeq	Phase_I	358	100	0.27933	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335587	0.24253	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.31247	1.5;1.52;2.0	5.61	4.68	0.58851	.	0.467858	0.18621	N	0.135860	T	0.18593	0.0446	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.007;0.006	B;B;B;B	0.15484	0.013;0.004;0.004;0.009	T	0.13818	-1.0495	10	0.42905	T	0.14	-4.9607	3.2938	0.06958	0.1074:0.1691:0.5488:0.1747	.	551;660;660;647	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	L	660;647;551	ENSP00000314556:S660L;ENSP00000369319:S647L;ENSP00000438667:S551L	ENSP00000314556:S660L	S	-	2	0	UACA	68748098	0.998000	0.40836	0.023000	0.16930	0.955000	0.61496	5.638000	0.67861	1.334000	0.45468	0.491000	0.48974	TCA	.	.	none		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			A	70961044	G	A	70961044	3	1	35	1	0	0	0	0	1	0	0	0	16821	1294	45	2	2287	2	UACA	15	70961044	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1123	70961044	31570348	283	23510										
MYO9A	4649	hgsc.bcm.edu	37	chr15	72338093	72338093	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctggtccagctccaagaataAtctgttctactccactggca	7	13	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:72338093A>C	ENST00000356056.5	-	2	1284	c.812T>G	c.(811-813)aTt>aGt	p.I271S	MYO9A_ENST00000564571.1_Missense_Mutation_p.I271S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I271S|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.I271S|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	271	Myosin motor.				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						TCCAAGAATAATCTGTTCTAC	0.388																																					p.I271S		Atlas-SNP	.											.	MYO9A	203	.	0			c.T812G						PASS	.						69	68	69					15																	72338093		2199	4297	6496	SO:0001583	missense	4649	exon2			AGAATAATCTGTT	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.812T>G	15.37:g.72338093A>C	ENSP00000348349:p.Ile271Ser	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	62	25	0.403226	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544760	0.65198	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86497	-2.13;-2.13;-2.13	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	D	0.89726	0.6798	L	0.45051	1.395	0.80722	D	1	P;P;P	0.45957	0.575;0.753;0.869	B;B;P	0.56865	0.205;0.406;0.808	D	0.89772	0.3955	9	0.51188	T	0.08	.	16.4074	0.83684	1.0:0.0:0.0:0.0	.	271;271;271	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	S	271	ENSP00000348349:I271S;ENSP00000399162:I271S;ENSP00000398250:I271S	ENSP00000261864:I271S	I	-	2	0	MYO9A	70125147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.275000	0.75901	0.529000	0.55759	ATT	.	.	none		0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72338093	A	C	72338093	3	2	35	1	0	0	0	0	1	0	0	0	10084	101	4	5	6998	5	MYO9A	15	72338093	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1377049	72338093	30193299	284	23511										
SEMA7A	8482	hgsc.bcm.edu	37	chr15	74708989	74708989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caggattgtcctctcggaagAagtagtagatcttgtcatcg	11	8	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:74708989A>T	ENST00000261918.4	-	7	1276	c.728T>A	c.(727-729)tTc>tAc	p.F243Y	SEMA7A_ENST00000543145.2_Missense_Mutation_p.F229Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.F78Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCTCGGAAGAAGTAGTAGAT	0.577																																					p.F243Y		Atlas-SNP	.											.	SEMA7A	58	.	0			c.T728A						PASS	.						327	280	295					15																	74708989		2197	4296	6493	SO:0001583	missense	8482	exon7			CGGAAGAAGTAGT	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.728T>A	15.37:g.74708989A>T	ENSP00000261918:p.Phe243Tyr	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	163	44	0.269939	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.985194	0.93044	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.36157	1.27;1.27;1.27	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73084	-0.4094	10	0.87932	D	0	-28.8004	13.6573	0.62346	1.0:0.0:0.0:0.0	.	229;243	F5H1S0;O75326	.;SEM7A_HUMAN	Y	243;229;78	ENSP00000261918:F243Y;ENSP00000438966:F229Y;ENSP00000441493:F78Y	ENSP00000261918:F243Y	F	-	2	0	SEMA7A	72496042	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.167000	0.77562	2.043000	0.60533	0.533000	0.62120	TTC	.	.	none		0.577	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		T	74708989	A	T	74708989	3	4	35	1	0	0	0	0	1	0	0	0	14043	246	9	5	1304	5	SEMA7A	15	74708989	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	2370896	74708989	27822403	285	23512										
PTPN9	5780	hgsc.bcm.edu	37	chr15	75762326	75762326	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aactggaagtgggtcacctgGcgtttctgccgttccttaga	12	10	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:75762326G>T	ENST00000306726.2	-	12	1886	c.1374C>A	c.(1372-1374)cgC>cgA	p.R458R		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	458	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGTCACCTGGCGTTTCTGCC	0.488																																					p.R458R		Atlas-SNP	.											.	PTPN9	53	.	0			c.C1374A						PASS	.						93	73	79					15																	75762326		2197	4294	6491	SO:0001819	synonymous_variant	5780	exon12			CACCTGGCGTTTC		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1374C>A	15.37:g.75762326G>T		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	100	25	0.25	NM_002833	Q53XR9	Silent	SNP	ENST00000306726.2	37	CCDS10280.1																																																																																			.	.	none		0.488	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			T	75762326	G	T	75762326	2	4	35	1	0	0	0	0	0	0	0	1	12794	1190	42	4		4	PTPN9	15	75762326	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1053337	75762326	26769066	286	23513										
BCL2A1	597	hgsc.bcm.edu	37	chr15	80263370	80263370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtagcactctggacgttttgCttggacctgatccaggttgt	12	9	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:80263370C>T	ENST00000267953.3	-	1	418	c.92G>A	c.(91-93)aGc>aAc	p.S31N	BCL2A1_ENST00000335661.6_Missense_Mutation_p.S31N	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	31	Ala/Pro-rich.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGACGTTTTGCTTGGACCTGA	0.438																																					p.S31N		Atlas-SNP	.											.	BCL2A1	28	.	0			c.G92A						PASS	.						126	115	118					15																	80263370		2203	4300	6503	SO:0001583	missense	597	exon1			GTTTTGCTTGGAC		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.92G>A	15.37:g.80263370C>T	ENSP00000267953:p.Ser31Asn	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	212	35	0.165094	NM_001114735	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792023	0.31685	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.19105	2.17;2.17	5.63	3.42	0.39159	.	0.384799	0.28016	N	0.016930	T	0.18045	0.0433	L	0.52364	1.645	0.09310	N	1	B;B	0.20261	0.019;0.043	B;B	0.11329	0.005;0.006	T	0.12785	-1.0534	10	0.40728	T	0.16	-9.7726	8.3084	0.32055	0.0:0.6889:0.1444:0.1667	.	31;31	Q86W13;Q16548	.;B2LA1_HUMAN	N	31	ENSP00000267953:S31N;ENSP00000335250:S31N	ENSP00000267953:S31N	S	-	2	0	BCL2A1	78050425	0.946000	0.32159	0.171000	0.22900	0.008000	0.06430	1.337000	0.33862	1.382000	0.46385	0.655000	0.94253	AGC	.	.	none		0.438	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		T	80263370	C	T	80263370	3	4	35	1	0	0	0	0	1	0	0	0	1366	797	28	2	503	2	BCL2A1	15	80263370	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4501044	80263370	22268022	287	23514										
MESDC2	23184	hgsc.bcm.edu	37	chr15	81271791	81271791	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcccatcgcgaagcatgaaGatagcacggtctgatcccac	9	14	1	3	rs372944817		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:81271791G>A	ENST00000261758.4	-	3	560	c.474C>T	c.(472-474)atC>atT	p.I158I	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	158	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GAAGCATGAAGATAGCACGGT	0.537																																					p.I158I		Atlas-SNP	.											.	MESDC2	23	.	0			c.C474T						PASS	.						71	67	69					15																	81271791		2203	4300	6503	SO:0001819	synonymous_variant	23184	exon3			CATGAAGATAGCA	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.474C>T	15.37:g.81271791G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	42	12	0.285714	NM_015154	B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	CCDS32308.1																																																																																			.	.	weak		0.537	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		A	81271791	G	A	81271791	2	1	35	1	0	0	0	0	0	0	0	1	9481	932	33	2		2	MESDC2	15	81271791	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1008421	81271791	21259601	288	23515										
IQGAP1	8826	hgsc.bcm.edu	37	chr15	90976986	90976986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	actacagatatctatgatcgAaagaacatgccaagatgtat	7	7	1	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:90976986A>G	ENST00000268182.5	+	5	550	c.426A>G	c.(424-426)cgA>cgG	p.R142R	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	142	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCTATGATCGAAAGAACATGC	0.338																																					p.R142R		Atlas-SNP	.											.	IQGAP1	140	.	0			c.A426G						PASS	.						128	126	127					15																	90976986		2198	4298	6496	SO:0001819	synonymous_variant	8826	exon5			TGATCGAAAGAAC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.426A>G	15.37:g.90976986A>G		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	175	49	0.28	NM_003870	A7MBM3	Silent	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																			.	.	none		0.338	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		G	90976986	A	G	90976986	2	3	35	1	0	0	0	0	0	0	0	1	7814	233	9	2		2	IQGAP1	15	90976986	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	9705195	90976986	11554406	289	23516										
CHD2	1106	hgsc.bcm.edu	37	chr15	93552523	93552523	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgagtgccttaaagcctactCagatcaggagcacatcaaac	8	12	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr15:93552523C>G	ENST00000394196.4	+	35	5630	c.4562C>G	c.(4561-4563)tCa>tGa	p.S1521*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.S1521*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1521					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGCCTACTCAGATCAGGAG	0.502																																					p.S1521X		Atlas-SNP	.											.	CHD2	280	.	0			c.C4562G						PASS	.						80	68	72					15																	93552523		2197	4298	6495	SO:0001587	stop_gained	1106	exon35			CCTACTCAGATCA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4562C>G	15.37:g.93552523C>G	ENSP00000377747:p.Ser1521*	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	47	17	0.361702	NM_001271	C6G482|Q96IP5	Nonsense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	50	16.405875	0.99862	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	.	.	.	5.69	5.69	0.88448	.	0.313373	0.17353	U	0.177306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-8.3814	16.1069	0.81230	0.1342:0.8658:0.0:0.0	.	.	.	.	X	1521;1521;46	.	ENSP00000377747:S1521X	S	+	2	0	CHD2	91353527	0.930000	0.31532	1.000000	0.80357	0.996000	0.88848	1.336000	0.33850	2.678000	0.91216	0.655000	0.94253	TCA	.	.	none		0.502	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		G	93552523	C	G	93552523	4	3	35	1	0	0	0	0	0	1	0	0	3325	838	29	4	4700	4	CHD2	15	93552523	Nonsense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2575537	93552523	8978869	290	23517										
WDR24	84219	hgsc.bcm.edu	37	chr16	735417	735417	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggctgtcgtagagcgcgtgtGagacagacaggagcgagaag	18	7	0	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:735417G>C	ENST00000248142.6	-	11	2248	c.2249C>G	c.(2248-2250)tCa>tGa	p.S750*	JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.S620*|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	750										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GAGCGCGTGTGAGACAGACAG	0.677																																					p.S620X		Atlas-SNP	.											.	WDR24	111	.	0			c.C1859G						PASS	.						36	46	43					16																	735417		2200	4298	6498	SO:0001587	stop_gained	84219	exon7			GCGTGTGAGACAG	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2249C>G	16.37:g.735417G>C	ENSP00000248142:p.Ser750*	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	48	9	0.1875	NM_032259	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Nonsense_Mutation	SNP	ENST00000248142.6	37		.	.	.	.	.	.	.	.	.	.	G	44	10.866820	0.99480	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-11.9116	16.9554	0.86258	0.0:0.0:1.0:0.0	.	.	.	.	X	750;620	.	ENSP00000248142:S750X	S	-	2	0	WDR24	675418	1.000000	0.71417	0.067000	0.19924	0.526000	0.34562	9.182000	0.94881	2.484000	0.83849	0.511000	0.50034	TCA	.	.	none		0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		C	735417	G	C	735417	4	2	35	1	0	0	0	0	0	1	0	0	17278	1294	45	4	525	4	WDR24	16	735417	Nonsense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		735417	89619336	291	23518										
NTHL1	7249	hgsc.bcm.edu	37	chr16	2094643	2094643	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggctcaccctccagaaaccGacggggtagatgagcttgcc	13	13	1	3	rs140211154		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:2094643G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Silent_p.V179V|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCCAGAAACCGACGGGGTAGA	0.682			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.V179V		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	NTHL1	24	.	0			c.C537T						PASS	.	G		0,4396		0,0,2198	53	47	49		537	-5.8	0.9	16	dbSNP_134	49	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	NTHL1	NM_002528.5		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		179/313	2094643	2,12992	2198	4299	6497	SO:0001631	upstream_gene_variant	4913	exon3	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GAAACCGACGGGG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094643G>A	Exception_encountered	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	39	14	0.358974	NM_002528	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																			G|1.000;A|0.000	0.000	weak		0.682	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2094643	G	A	2094643	1	1	35	0	1	0	0	0	0	0	0	0	10698	1045	37	1		1	NTHL1	16	2094643	5'Flank	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1359226	2094643	88260110	292	23519										
PKD1	5310	hgsc.bcm.edu	37	chr16	2161349	2161349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcggggctggccgcacccacGgtcactgtgcagttctgtgc	15	14	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:2161349G>A	ENST00000262304.4	-	15	4027	c.3819C>T	c.(3817-3819)acC>acT	p.T1273T	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.T1273T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1273	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGCACCCACGGTCACTGTGC	0.687																																					p.T1273T		Atlas-SNP	.											.	PKD1	184	.	0			c.C3819T						PASS	.						12	13	12					16																	2161349		2081	4116	6197	SO:0001819	synonymous_variant	5310	exon15			ACCCACGGTCACT	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3819C>T	16.37:g.2161349G>A		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	46	17	0.369565	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			.	.	none		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2161349	G	A	2161349	2	1	35	1	0	0	0	0	0	0	0	1	11963	1103	39	1		1	PKD1	16	2161349	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	66706	2161349	88193404	293	23520										
CASKIN1	57524	hgsc.bcm.edu	37	chr16	2239543	2239543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tccttccggccctgccaggcCgcatagtgcagcggccgcat	12	17	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:2239543C>T	ENST00000343516.6	-	4	359	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	89					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCTGCCAGGCCGCATAGTGCA	0.687																																					p.A89A		Atlas-SNP	.											.	CASKIN1	130	.	0			c.G267A						PASS	.						16	19	18					16																	2239543		1958	4121	6079	SO:0001819	synonymous_variant	57524	exon4			CCAGGCCGCATAG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.267G>A	16.37:g.2239543C>T		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	47	16	0.340426	NM_020764	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																			.	.	none		0.687	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		T	2239543	C	T	2239543	2	4	35	1	0	0	0	0	0	0	0	1	2666	639	23	1		1	CASKIN1	16	2239543	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	78194	2239543	88115210	294	23521										
FAM86A	196483	hgsc.bcm.edu	37	chr16	5141837	5141837	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgggtggactccttggccatCagggtctccgccagcgcttc	13	14	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:5141837C>T	ENST00000427587.4	-	4	368	c.300G>A	c.(298-300)ctG>ctA	p.L100L	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	100						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCTTGGCCATCAGGGTCTCCG	0.587																																					p.L100L		Atlas-SNP	.											.	FAM86A	32	.	0			c.G300A						PASS	.						38	37	37					16																	5141837		2197	4300	6497	SO:0001819	synonymous_variant	196483	exon4			GGCCATCAGGGTC	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.300G>A	16.37:g.5141837C>T		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	156	54	0.346154	NM_201400	D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	CCDS10529.1																																																																																			.	.	none		0.587	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		T	5141837	C	T	5141837	2	4	35	1	0	0	0	0	0	0	0	1	5643	813	29	2		2	FAM86A	16	5141837	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2902294	5141837	85212916	295	23522										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348767	11348767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgagggggatgcgagccaggTtctcgcggcccacggtggcc	18	12	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348767T>C	ENST00000332029.2	-	2	719	c.569A>G	c.(568-570)aAc>aGc	p.N190S	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	190	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.A184_L191del(2)|p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GCGAGCCAGGTTCTCGCGGCC	0.726			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.N190S	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	4	Deletion - In frame(3)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(4)	c.A569G						PASS	.						11	11	11					16																	11348767		2173	4276	6449	SO:0001583	missense	8651	exon2			GCCAGGTTCTCGC	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.569A>G	16.37:g.11348767T>C	ENSP00000329418:p.Asn190Ser	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	20	0.25641	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459110	0.43634	.	.	ENSG00000185338	ENST00000332029	T	0.42900	0.96	4.25	3.14	0.36123	SOCS protein, C-terminal (4);	0.312361	0.34223	N	0.004146	T	0.24812	0.0602	N	0.19112	0.55	0.39165	D	0.962486	B	0.18310	0.027	B	0.26416	0.069	T	0.06752	-1.0809	10	0.07990	T	0.79	-4.2762	10.1694	0.42900	0.0:0.0:0.168:0.832	.	190	O15524	SOCS1_HUMAN	S	190	ENSP00000329418:N190S	ENSP00000329418:N190S	N	-	2	0	SOCS1	11256268	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.092000	0.50207	0.666000	0.31087	-0.466000	0.05196	AAC	.	.	none		0.726	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			C	11348767	T	C	11348767	3	2	35	1	0	0	0	0	1	0	0	0	14913	1725	60	2	70	2	SOCS1	16	11348767	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	6206930	11348767	79005986	296	23523			3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348807	11348807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cacgatgcgctggcggcacaGctcctgcagcggccgcacgc	14	17	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348807G>A	ENST00000332029.2	-	2	679	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	177	Interaction with Elongin BC complex. {ECO:0000250}.|SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.E176fs*35(3)|p.Y64fs*1(1)|p.R127_*212del(1)|p.V171_R179del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						TGGCGGCACAGCTCCTGCAGC	0.726			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.L177L	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	7	Deletion - Frameshift(4)|Deletion - In frame(2)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(7)	c.C529T						PASS	.						7	7	7					16																	11348807		2133	4196	6329	SO:0001819	synonymous_variant	8651	exon2			GGCACAGCTCCTG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.529C>T	16.37:g.11348807G>A		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	59	18	0.305085	NM_003745	O15097|Q9NSA7	Silent	SNP	ENST00000332029.2	37	CCDS10546.1																																																																																			.	.	none		0.726	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11348807	G	A	11348807	2	1	35	1	0	0	0	0	0	0	0	1	14913	962	34	2		2	SOCS1	16	11348807	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	40	11348807	79005946	297	23524			3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348889	11348889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gccacgtagtgctccagcagCtcgaagaggcagtcgaagct	13	12	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348889C>G	ENST00000332029.2	-	2	597	c.447G>C	c.(445-447)gaG>gaC	p.E149D	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.F144fs*34(1)|p.D145_L150>EV(1)|p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GCTCCAGCAGCTCGAAGAGGC	0.721			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.E149D	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	5	Deletion - Frameshift(2)|Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)	c.G447C						PASS	.						11	13	12					16																	11348889		2160	4263	6423	SO:0001583	missense	8651	exon2			CAGCAGCTCGAAG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.447G>C	16.37:g.11348889C>G	ENSP00000329418:p.Glu149Asp	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	67	20	0.298507	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041146	0.19669	.	.	ENSG00000185338	ENST00000332029	D	0.89050	-2.46	4.06	3.11	0.35812	SH2 motif (4);	0.549051	0.19105	U	0.122583	T	0.78175	0.4242	N	0.16862	0.45	0.28270	N	0.924431	B	0.21821	0.061	B	0.22152	0.038	T	0.63152	-0.6701	10	0.14252	T	0.57	-16.6032	11.0722	0.48010	0.0:0.9084:0.0:0.0916	.	149	O15524	SOCS1_HUMAN	D	149	ENSP00000329418:E149D	ENSP00000329418:E149D	E	-	3	2	SOCS1	11256390	0.998000	0.40836	1.000000	0.80357	0.838000	0.47535	1.217000	0.32455	0.930000	0.37217	-0.448000	0.05591	GAG	.	.	none		0.721	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			G	11348889	C	G	11348889	3	3	35	1	0	0	0	0	1	0	0	0	14913	796	28	4	192	4	SOCS1	16	11348889	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	82	11348889	79005864	298	23525			3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348920	11348920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agtcgaagctctcgcggctgCcatccaggtgaaagcggccg	14	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348920C>T	ENST00000332029.2	-	2	566	c.416G>A	c.(415-417)gGc>gAc	p.G139D	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	139	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CTCGCGGCTGCCATCCAGGTG	0.697			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.G139D	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	3	Whole gene deletion(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	c.G416A						PASS	.						14	16	15					16																	11348920		2182	4284	6466	SO:0001583	missense	8651	exon2			CGGCTGCCATCCA	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.416G>A	16.37:g.11348920C>T	ENSP00000329418:p.Gly139Asp	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	64	20	0.3125	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324652	0.60634	.	.	ENSG00000185338	ENST00000332029	D	0.88277	-2.36	4.19	3.22	0.36961	SH2 motif (4);	0.109277	0.64402	D	0.000007	D	0.89336	0.6686	L	0.52905	1.665	0.80722	D	1	P	0.37548	0.599	P	0.48189	0.57	D	0.87457	0.2405	10	0.41790	T	0.15	-29.8658	12.3946	0.55378	0.1695:0.8305:0.0:0.0	.	139	O15524	SOCS1_HUMAN	D	139	ENSP00000329418:G139D	ENSP00000329418:G139D	G	-	2	0	SOCS1	11256421	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	1.156000	0.31712	0.963000	0.38082	-0.314000	0.08810	GGC	.	.	none		0.697	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			T	11348920	C	T	11348920	3	4	35	1	0	0	0	0	1	0	0	0	14913	739	26	2	223	2	SOCS1	16	11348920	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	31	11348920	79005833	299	23526			3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348978	11348978	+	Missense_Mutation	SNP	C	C	T													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gatgctcgtgggtcccgaggCcatcttcacgctaagggcga							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348978C>T	ENST00000332029.2	-	2	508	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	120	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.V117fs*93(2)|p.R107_I126del(1)|p.Y64fs*1(1)|p.K118_P123>T(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GGTCCCGAGGCCATCTTCACG	0.682			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.A120T	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,NS,lymphoid_neoplasm,+2,1	SOCS1	84	1	6	Deletion - Frameshift(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(6)	c.G358A						scavenged	.						17	19	18					16																	11348978		2190	4294	6484	SO:0001583	missense	8651	exon2			CCGAGGCCATCTT	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.358G>A	16.37:g.11348978C>T	ENSP00000329418:p.Ala120Thr	Somatic	38	1	0.0263158		WXS	Illumina HiSeq	Phase_I	40	8	0.2	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851001	0.71719	.	.	ENSG00000185338	ENST00000332029	D	0.88509	-2.39	4.19	3.22	0.36961	SH2 motif (4);	0.585977	0.17953	N	0.156430	D	0.84474	0.5480	L	0.42686	1.345	0.44181	D	0.996992	B	0.32968	0.392	B	0.37989	0.262	T	0.77008	-0.2747	10	0.13108	T	0.6	-33.1096	12.3697	0.55248	0.1698:0.8302:0.0:0.0	.	120	O15524	SOCS1_HUMAN	T	120	ENSP00000329418:A120T	ENSP00000329418:A120T	A	-	1	0	SOCS1	11256479	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	1.808000	0.38912	0.952000	0.37798	0.561000	0.74099	GCC	.	.	none		0.682	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			T	11348978	C	T	11348978	3	4	35	1	0	0	0	0	1	0	0	0	14913	739	26	2	281	2	SOCS1	16	11348978	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	58	11348978	79005775	300	23527	479	2	3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11348988	11348988	+	Silent	SNP	G	G	A													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtcccgaggccatcttcacGctaagggcgaaaaagcagtt							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11348988G>A	ENST00000332029.2	-	2	498	c.348C>T	c.(346-348)agC>agT	p.S116S	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	116	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R107_I126del(1)|p.Y64fs*1(1)|p.0?(1)|p.L115fs*1(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCATCTTCACGCTAAGGGCGA	0.687			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.S116S	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,NS,lymphoid_neoplasm,0,2	SOCS1	84	2	4	Deletion - Frameshift(2)|Whole gene deletion(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)	c.C348T						PASS	.						16	17	17					16																	11348988		2188	4291	6479	SO:0001819	synonymous_variant	8651	exon2			CTTCACGCTAAGG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.348C>T	16.37:g.11348988G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	40	11	0.275	NM_003745	O15097|Q9NSA7	Silent	SNP	ENST00000332029.2	37	CCDS10546.1																																																																																			.	.	none		0.687	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11348988	G	A	11348988	2	1	35	1	0	0	0	0	0	0	0	1	14913	1078	38	1		1	SOCS1	16	11348988	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10	11348988	79005765	301	23528	479	2	3	105		7	6	336	N	TC_T_G_C	1.209392e-14
SOCS1	8651	hgsc.bcm.edu	37	chr16	11349102	11349103	+	Frame_Shift_Del	DEL	TC	TC	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcaggggcccccagtagaaTccgcaggcgtccaggagcgc							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:11349102_11349103delTC	ENST00000332029.2	-	2	383_384	c.233_234delGA	c.(232-234)ggafs	p.G78fs	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	78	Extended SH2 subdomain (ESS).				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)|p.S71fs*29(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCCAGTAGAATCCGCAGGCGTC	0.743			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.78_79del	Colon(177;456 3548 27231)	Atlas-Indel	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	SOCS1,lymph_node,lymphoid_neoplasm,+1,1	SOCS1	84	1	4	Deletion - Frameshift(2)|Whole gene deletion(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)	c.234_235del						PASS	.																																			SO:0001589	frameshift_variant	8651	exon2			.	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.233_234delGA	16.37:g.11349102_11349103delTC	ENSP00000329418:p.Gly78fs	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	21	10	0.47619	NM_003745	O15097|Q9NSA7	Frame_Shift_Del	DEL	ENST00000332029.2	37	CCDS10546.1																																																																																			.	.	none		0.743	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			-	11349103	TC	-	11349102	7	5	35	1	0	1	0	1	0	0	0	0	14913	1422	50	0	405	0	SOCS1	16	11349102	Frame_Shift_Del	DEL	TC	TCGA-GS-A9TZ-01A-11D-A38X-10	114	11349102	79005651	302	23529			3	105		7	6	336	N	TC_T_G_C	1.209392e-14
PALB2	79728	hgsc.bcm.edu	37	chr16	23614908	23614908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaggagggcagtacactgacCgagaagtaagtcccaaatgg	14	8	0	2	rs180177137		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:23614908C>T	ENST00000261584.4	-	13	3585	c.3433G>A	c.(3433-3435)Ggt>Agt	p.G1145S	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1145	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTACACTGACCGAGAAGTAAG	0.473			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																													p.G1145S		Atlas-SNP	.	yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	.	PALB2	108	.	0			c.G3433A						PASS	.						112	96	102					16																	23614908		2197	4300	6497	SO:0001583	missense	79728	exon13			ACTGACCGAGAAG		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3433G>A	16.37:g.23614908C>T	ENSP00000261584:p.Gly1145Ser	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	94	18	0.191489	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658675	0.67586	.	.	ENSG00000083093	ENST00000261584	T	0.34667	1.35	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.134831	0.51477	D	0.000093	T	0.50360	0.1611	L	0.49126	1.545	0.41857	D	0.990202	D	0.89917	1.0	D	0.76575	0.988	T	0.38757	-0.9646	10	0.30854	T	0.27	-18.4454	10.8436	0.46730	0.0:0.9148:0.0:0.0852	.	1145	Q86YC2	PALB2_HUMAN	S	1145	ENSP00000261584:G1145S	ENSP00000261584:G1145S	G	-	1	0	PALB2	23522409	0.936000	0.31750	0.572000	0.28498	0.702000	0.40608	3.044000	0.49830	2.737000	0.93849	0.561000	0.74099	GGT	.	.	alt		0.473	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		T	23614908	C	T	23614908	3	4	35	1	0	0	0	0	1	0	0	0	11406	652	23	1	131	1	PALB2	16	23614908	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	12265806	23614908	66739845	303	23530										
XPO6	23214	hgsc.bcm.edu	37	chr16	28187332	28187332	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtaaggtaaggttttatggtGagccaaaaggagtttgggca	15	3	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:28187332G>A	ENST00000304658.5	-	4	792	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	XPO6_ENST00000565698.1_Missense_Mutation_p.H84Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	98					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTTTATGGTGAGCCAAAAGG	0.408																																					p.H98Y		Atlas-SNP	.											.	XPO6	177	.	0			c.C292T						PASS	.						90	83	85					16																	28187332		1864	4102	5966	SO:0001583	missense	23214	exon4			TATGGTGAGCCAA	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.292C>T	16.37:g.28187332G>A	ENSP00000302790:p.His98Tyr	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	116	9	0.0775862	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505413	0.64410	.	.	ENSG00000169180	ENST00000304658	T	0.44083	0.93	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.048798	0.85682	D	0.000000	T	0.27384	0.0672	N	0.14661	0.345	0.54753	D	0.999981	B;B	0.12630	0.006;0.006	B;B	0.16722	0.003;0.016	T	0.08994	-1.0695	10	0.11182	T	0.66	-18.2154	17.0597	0.86543	0.0:0.0:1.0:0.0	.	98;98	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	98	ENSP00000302790:H98Y	ENSP00000302790:H98Y	H	-	1	0	XPO6	28094833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.842000	0.86851	2.698000	0.92095	0.655000	0.94253	CAC	.	.	none		0.408	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28187332	G	A	28187332	3	1	35	1	0	0	0	0	1	0	0	0	17445	1290	45	2	3169	2	XPO6	16	28187332	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4572424	28187332	62167421	304	23531										
CORO1A	11151	hgsc.bcm.edu	37	chr16	30199792	30199792	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggcccctcctcatctccctCaaggatggctacgtaccccc	8	19	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:30199792C>G	ENST00000219150.5	+	10	1481	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Silent_p.L392L	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	392					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TCATCTCCCTCAAGGATGGCT	0.697																																					p.L392L		Atlas-SNP	.											.	CORO1A	36	.	0			c.C1176G						PASS	.						32	36	34					16																	30199792		2197	4299	6496	SO:0001819	synonymous_variant	11151	exon10			CTCCCTCAAGGAT	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1176C>G	16.37:g.30199792C>G		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	80	32	0.4	NM_007074	B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	CCDS10673.1																																																																																			.	.	none		0.697	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		G	30199792	C	G	30199792	2	3	35	1	0	0	0	0	0	0	0	1	3753	813	29	4		4	CORO1A	16	30199792	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2012460	30199792	60154961	305	23532										
SETD1A	9739	hgsc.bcm.edu	37	chr16	30976634	30976634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cagcatggtccttggggccaGagatacagggagtgaggtgc	17	8	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:30976634G>C	ENST00000262519.8	+	7	2257	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	524	Pro-rich. {ECO:0000255}.				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 methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTTGGGGCCAGAGATACAGGG	0.602																																					p.R524T		Atlas-SNP	.											.	SETD1A	143	.	0			c.G1571C						PASS	.						58	62	61					16																	30976634		2197	4300	6497	SO:0001583	missense	9739	exon7			GGGCCAGAGATAC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1571G>C	16.37:g.30976634G>C	ENSP00000262519:p.Arg524Thr	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	64	27	0.421875	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655738	0.14580	.	.	ENSG00000099381	ENST00000262519	D	0.94457	-3.43	5.69	4.73	0.59995	.	0.299822	0.30060	N	0.010511	D	0.88005	0.6321	L	0.29908	0.895	0.31246	N	0.694563	P	0.35433	0.501	B	0.22386	0.039	D	0.87028	0.2133	10	0.32370	T	0.25	.	12.9443	0.58364	0.081:0.0:0.919:0.0	.	524	O15047	SET1A_HUMAN	T	524	ENSP00000262519:R524T	ENSP00000262519:R524T	R	+	2	0	SETD1A	30884135	1.000000	0.71417	0.974000	0.42286	0.082000	0.17680	3.760000	0.55235	2.681000	0.91329	0.561000	0.74099	AGA	.	.	none		0.602	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30976634	G	C	30976634	3	2	35	1	0	0	0	0	1	0	0	0	14130	942	33	4	1593	4	SETD1A	16	30976634	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	776842	30976634	59378119	306	23533										
C16orf58	64755	hgsc.bcm.edu	37	chr16	31502228	31502228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acctctagctggtgcttctcGgtcttccagccggcatcctg	10	15	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:31502228G>A	ENST00000327237.2	-	13	1374	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_Silent_p.T400T|C16orf58_ENST00000570164.1_Silent_p.T443T			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	445						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GGTGCTTCTCGGTCTTCCAGC	0.622																																					p.G445G		Atlas-SNP	.											C16orf58,NS,carcinoma,0,1	C16orf58	28	1	0			c.G1335T						scavenged	.						79	67	71					16																	31502228		2197	4300	6497	SO:0001819	synonymous_variant	64755	exon13			CTTCTCGGTCTTC	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.1335C>T	16.37:g.31502228G>A		Somatic	64	1	0.015625		WXS	Illumina HiSeq	Phase_I	55	15	0.272727	NM_022744	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	ENST00000327237.2	37	CCDS10715.1																																																																																			.	.	none		0.622	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		A	31502228	G	A	31502228	2	1	35	1	0	0	0	0	0	0	0	1	1822	1103	39	1		1	C16orf58	16	31502228	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	525594	31502228	58852525	307	23534										
VPS35	55737	hgsc.bcm.edu	37	chr16	46706252	46706252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	caactcatgctctttctggaCtcgtagtcaaagtactcaaa	6	11	5	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:46706252C>T	ENST00000299138.7	-	11	1351	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	431					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTTTCTGGACTCGTAGTCAA	0.348																																					p.E431E		Atlas-SNP	.											VPS35,NS,carcinoma,-2,1	VPS35	49	1	0			c.G1293A						PASS	.						82	82	82					16																	46706252		2203	4300	6503	SO:0001819	synonymous_variant	55737	exon11			TCTGGACTCGTAG	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1293G>A	16.37:g.46706252C>T		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	165	15	0.0909091	NM_018206	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	CCDS10721.1																																																																																			.	.	none		0.348	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			T	46706252	C	T	46706252	2	4	35	1	0	0	0	0	0	0	0	1	17200	564	20	2		2	VPS35	16	46706252	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	15204024	46706252	43648501	308	23535										
SALL1	6299	hgsc.bcm.edu	37	chr16	51175656	51175664	+	In_Frame_Del	DEL	GCTGCTGCT	GCTGCTGCT	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs139646526|rs372299573	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	GCTGCTGCT	GCTGCTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:51175656_51175664delGCTGCTGCT	ENST00000251020.4	-	2	502_510	c.469_477delAGCAGCAGC	c.(469-477)agcagcagcdel	p.SSS157del	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.SSS60del|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	157	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)|p.S157G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctgctgctg	0.627																																					p.157_160del	GBM(103;1352 1446 1855 4775 8890)	Atlas-Indel	.											.	SALL1	301	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.470_478del						PASS	.																																			SO:0001651	inframe_deletion	6299	exon2			.	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.469_477delAGCAGCAGC	16.37:g.51175665_51175673delGCTGCTGCT	ENSP00000251020:p.Ser157_Ser159del	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	125	25	0.2	NM_002968	Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	CCDS10747.1																																																																																			-|0.500;GCC|0.250;GCT|0.250	0.500	strong		0.627	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		-	51175664	GCTGCTGCT	-	51175656	7	5	35	1	0	1	0	1	0	0	0	0	13810	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCTGCTGCT	TCGA-GS-A9TZ-01A-11D-A38X-10	4469404	51175656	39179097	309	23536										
PHLPP2	23035	hgsc.bcm.edu	37	chr16	71683436	71683436	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gccgctctggcctcggaagcAaggcagtgtccaggccccca	13	16	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:71683436A>T	ENST00000568954.1	-	19	3707	c.3329T>A	c.(3328-3330)tTg>tAg	p.L1110*	PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.L1110*|PHLPP2_ENST00000393524.2_Nonsense_Mutation_p.L1043*|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.L1145*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1110					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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCTCGGAAGCAAGGCAGTGTC	0.592																																					p.L1110X		Atlas-SNP	.											.	PHLPP2	96	.	0			c.T3329A						PASS	.						55	56	55					16																	71683436		2198	4300	6498	SO:0001587	stop_gained	23035	exon18			GGAAGCAAGGCAG	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3329T>A	16.37:g.71683436A>T	ENSP00000457991:p.Leu1110*	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	15	0.234375	NM_015020	A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	38	6.724567	0.97792	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-7.6795	15.7393	0.77876	1.0:0.0:0.0:0.0	.	.	.	.	X	1110;1043	.	ENSP00000348611:L1110X	L	-	2	0	PHLPP2	70240937	0.999000	0.42202	0.996000	0.52242	0.565000	0.35776	3.591000	0.53986	2.308000	0.77769	0.533000	0.62120	TTG	.	.	none		0.592	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		T	71683436	A	T	71683436	4	4	35	1	0	0	0	0	0	1	0	0	11855	131	5	5	646	5	PHLPP2	16	71683436	Nonsense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	20507780	71683436	18671317	310	23537										
CHST6	4166	hgsc.bcm.edu	37	chr16	75512714	75512714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgcggcggatcttggcaaagGgcagcgcatggcgccaggcc	17	13	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:75512714G>A	ENST00000332272.4	-	3	1192	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	CHST6_ENST00000390664.2_Missense_Mutation_p.P338L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	338					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTGGCAAAGGGCAGCGCATG	0.652																																					p.P338L		Atlas-SNP	.											.	CHST6	57	.	0			c.C1013T						PASS	.						61	56	58					16																	75512714		2198	4300	6498	SO:0001583	missense	4166	exon3			GCAAAGGGCAGCG	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1013C>T	16.37:g.75512714G>A	ENSP00000328983:p.Pro338Leu	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	25	0.347222	NM_021615	D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064439	0.76187	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99766	-6.69;-6.69	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.182083	0.49305	D	0.000151	D	0.99694	0.9884	M	0.83953	2.67	0.53005	D	0.999964	P	0.50710	0.938	P	0.62491	0.903	D	0.97282	0.9918	10	0.56958	D	0.05	.	15.563	0.76266	0.0:0.0:1.0:0.0	.	338	Q9GZX3	CHST6_HUMAN	L	338	ENSP00000328983:P338L;ENSP00000375079:P338L	ENSP00000328983:P338L	P	-	2	0	CHST6	74070215	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.425000	0.73370	2.278000	0.76064	0.591000	0.81541	CCC	.	.	none		0.652	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		A	75512714	G	A	75512714	3	1	35	1	0	0	0	0	1	0	0	0	3408	1232	43	2	178	2	CHST6	16	75512714	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3829278	75512714	14842039	311	23538										
CHST5	23563	hgsc.bcm.edu	37	chr16	75563924	75563924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccatgtcgcacaaaaagataGagcgcatcaggtcgcgcacg	11	12	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:75563924G>A	ENST00000336257.3	-	3	1753	c.359C>T	c.(358-360)tCt>tTt	p.S120F	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.S126F	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	120					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAAAAAGATAGAGCGCATCAG	0.612																																					p.S120F		Atlas-SNP	.											.	CHST5	47	.	0			c.C359T						PASS	.						70	61	64					16																	75563924		2198	4300	6498	SO:0001583	missense	23563	exon3			AAGATAGAGCGCA	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.359C>T	16.37:g.75563924G>A	ENSP00000338783:p.Ser120Phe	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743665	0.30865	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.81078	-1.45;-1.45	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.115412	0.64402	D	0.000017	D	0.88239	0.6383	M	0.79123	2.44	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89413	0.3704	10	0.72032	D	0.01	.	12.3965	0.55389	0.0:0.0:1.0:0.0	.	126;120	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	F	120;126	ENSP00000338783:S120F;ENSP00000441220:S126F	ENSP00000338783:S120F	S	-	2	0	CHST5	74121425	1.000000	0.71417	0.769000	0.31535	0.031000	0.12232	6.803000	0.75180	1.514000	0.48869	0.313000	0.20887	TCT	.	.	none		0.612	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		A	75563924	G	A	75563924	3	1	35	1	0	0	0	0	1	0	0	0	3407	942	33	2	880	2	CHST5	16	75563924	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	51210	75563924	14790829	312	23539										
CNTNAP4	85445	hgsc.bcm.edu	37	chr16	76389398	76389398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaaacaatatcgccaagaggAcagcatctgggtatgttctt	10	8	2	1	rs139740249		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:76389398A>C	ENST00000476707.1	+	2	528	c.389A>C	c.(388-390)gAc>gCc	p.D130A	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D102A|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D126A|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D126A			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	127	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGCCAAGAGGACAGCATCTGG	0.438																																					p.D102A		Atlas-SNP	.											.	CNTNAP4	600	.	0			c.A305C						PASS	.						86	82	84					16																	76389398		2198	4300	6498	SO:0001583	missense	85445	exon3			AAGAGGACAGCAT	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.389A>C	16.37:g.76389398A>C	ENSP00000417628:p.Asp130Ala	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	83	24	0.289157	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	A	17.37	3.373308	0.61624	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.335067	0.21454	N	0.074283	D	0.97860	0.9297	.	.	.	0.37784	D	0.927109	D;D;P;P	0.56521	0.976;0.961;0.767;0.88	P;P;P;P	0.62560	0.904;0.85;0.752;0.685	D	0.99632	1.0986	9	0.54805	T	0.06	.	12.6038	0.56511	1.0:0.0:0.0:0.0	.	102;130;102;127	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	A	126;126;102;130	ENSP00000306893:D126A;ENSP00000439733:D126A;ENSP00000418741:D102A;ENSP00000417628:D130A	ENSP00000306893:D126A	D	+	2	0	CNTNAP4	74946899	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.028000	0.70889	2.145000	0.66743	0.482000	0.46254	GAC	A|1.000;G|0.000	.	alt		0.438	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		C	76389398	A	C	76389398	3	2	35	1	0	0	0	0	1	0	0	0	3649	275	10	5	403	5	CNTNAP4	16	76389398	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	825474	76389398	13965355	313	23540										
ADAD2	161931	hgsc.bcm.edu	37	chr16	84228066	84228066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggtccctgcttccccttctCggtgagcgcggaactggatg	13	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:84228066C>T	ENST00000315906.5	+	2	489	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.S218L|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	146	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TTCCCCTTCTCGGTGAGCGCG	0.647																																					p.S218L		Atlas-SNP	.											.	ADAD2	46	.	0			c.C653T						PASS	.						27	29	28					16																	84228066		2200	4300	6500	SO:0001583	missense	161931	exon3			CCTTCTCGGTGAG	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.437C>T	16.37:g.84228066C>T	ENSP00000325153:p.Ser146Leu	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	43	9	0.209302	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923087	0.33908	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.78003	-1.14;-1.14	4.33	3.36	0.38483	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.50627	D	0.000113	T	0.62901	0.2466	L	0.34521	1.04	0.30049	N	0.811913	P;P	0.49862	0.929;0.733	B;B	0.37267	0.245;0.154	T	0.64837	-0.6313	10	0.49607	T	0.09	-16.5901	10.2642	0.43445	0.0:0.7989:0.2011:0.0	.	146;218	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	L	146;218	ENSP00000325153:S146L;ENSP00000268624:S218L	ENSP00000268624:S218L	S	+	2	0	ADAD2	82785567	0.985000	0.35326	0.771000	0.31576	0.338000	0.28826	3.491000	0.53252	1.141000	0.42275	0.511000	0.50034	TCG	.	.	none		0.647	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		T	84228066	C	T	84228066	3	4	35	1	0	0	0	0	1	0	0	0	232	893	31	1	663	1	ADAD2	16	84228066	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7838668	84228066	6126687	314	23541										
IRF8	3394	hgsc.bcm.edu	37	chr16	85942692	85942692	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgctttgaataagagcccaGattttgaggaagtgacggac	13	6	0	5			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:85942692G>A	ENST00000268638.5	+	3	693	c.271G>A	c.(271-273)Gat>Aat	p.D91N	IRF8_ENST00000563180.1_Missense_Mutation_p.D91N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	91					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TAAGAGCCCAGATTTTGAGGA	0.458																																					p.D91N		Atlas-SNP	.											.	IRF8	65	.	0			c.G271A						PASS	.						75	74	74					16																	85942692		2198	4300	6498	SO:0001583	missense	3394	exon3			AGCCCAGATTTTG	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.271G>A	16.37:g.85942692G>A	ENSP00000268638:p.Asp91Asn	Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	90	33	0.366667	NM_002163	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339716	0.95783	.	.	ENSG00000140968	ENST00000268638	D	0.98090	-4.71	4.88	4.88	0.63580	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.996	D	0.98988	1.0807	10	0.49607	T	0.09	-19.2746	18.3888	0.90475	0.0:0.0:1.0:0.0	.	91;91	B2R8V7;Q02556	.;IRF8_HUMAN	N	91	ENSP00000268638:D91N	ENSP00000268638:D91N	D	+	1	0	IRF8	84500193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.282000	0.95840	2.438000	0.82558	0.484000	0.47621	GAT	.	.	none		0.458	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		A	85942692	G	A	85942692	3	1	35	1	0	0	0	0	1	0	0	0	7836	942	33	2	277	2	IRF8	16	85942692	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1714626	85942692	4412061	315	23542										
IRF8	3394	hgsc.bcm.edu	37	chr16	85942775	85942775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	attgttcctgaggaagagcaAaaatgtaactatcctttatg	8	6	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr16:85942775A>G	ENST00000268638.5	+	3	776	c.354A>G	c.(352-354)caA>caG	p.Q118Q	IRF8_ENST00000563180.1_Silent_p.Q118Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	118					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGGAAGAGCAAAAATGTAACT	0.493																																					p.Q118Q		Atlas-SNP	.											.	IRF8	65	.	0			c.A354G						PASS	.						48	47	47					16																	85942775		2198	4300	6498	SO:0001819	synonymous_variant	3394	exon3			AGAGCAAAAATGT	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.354A>G	16.37:g.85942775A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	75	27	0.36	NM_002163	A0AV82	Silent	SNP	ENST00000268638.5	37	CCDS10956.1																																																																																			.	.	none		0.493	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		G	85942775	A	G	85942775	2	3	35	1	0	0	0	0	0	0	0	1	7836	11	1	2		2	IRF8	16	85942775	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	83	85942775	4411978	316	23543										
SLC16A13	201232	hgsc.bcm.edu	37	chr17	6941796	6941796	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctccgttacactgttgccctCaccctgatcaacactggcta	6	16	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:6941796C>T	ENST00000308027.6	+	3	977	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	223						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTGTTGCCCTCACCCTGATCA	0.612																																					p.L223L		Atlas-SNP	.											.	SLC16A13	28	.	0			c.C669T						PASS	.						159	139	146					17																	6941796		2203	4300	6503	SO:0001819	synonymous_variant	201232	exon3			TGCCCTCACCCTG	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.669C>T	17.37:g.6941796C>T		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	97	41	0.42268	NM_201566	A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	CCDS11085.1																																																																																			.	.	none		0.612	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			T	6941796	C	T	6941796	2	4	35	1	0	0	0	0	0	0	0	1	14406	813	29	2		2	SLC16A13	17	6941796	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		6941796	74253414	317	23544										
DNAH2	146754	hgsc.bcm.edu	37	chr17	7662326	7662326	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tatacagggacctggaatttGaagaggaccaaagagagcat	12	6	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:7662326G>A	ENST00000572933.1	+	15	3792	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E778K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	778	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)				CCTGGAATTTGAAGAGGACCA	0.512																																					p.E778K		Atlas-SNP	.											.	DNAH2	498	.	0			c.G2332A						PASS	.						97	86	90					17																	7662326		2203	4300	6503	SO:0001583	missense	146754	exon14			GAATTTGAAGAGG	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.2332G>A	17.37:g.7662326G>A	ENSP00000458355:p.Glu778Lys	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	56	17	0.303571	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582224	0.46006	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23348	1.91	5.42	5.42	0.78866	.	0.228580	0.35936	N	0.002888	T	0.24160	0.0585	L	0.46157	1.445	0.80722	D	1	B	0.17268	0.021	B	0.19148	0.024	T	0.02893	-1.1097	10	0.27082	T	0.32	.	13.709	0.62656	0.0:0.1549:0.8451:0.0	.	778	Q9P225	DYH2_HUMAN	K	778	ENSP00000373825:E778K	ENSP00000353818:E778K	E	+	1	0	DNAH2	7603051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.091000	0.64505	2.535000	0.85469	0.555000	0.69702	GAA	.	.	none		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7662326	G	A	7662326	3	1	35	1	0	0	0	0	1	0	0	0	4602	1291	45	2	2386	2	DNAH2	17	7662326	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	720530	7662326	73532884	318	23545										
KCNAB3	9196	hgsc.bcm.edu	37	chr17	7832622	7832622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggccagaccctccacccccCggaggattcccgtgcccccc	10	22	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:7832622C>T	ENST00000303790.2	-	1	131	c.132G>A	c.(130-132)ccG>ccA	p.P44P	CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_Intron	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	44					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CTCCACCCCCCGGAGGATTCC	0.761																																					p.P44P		Atlas-SNP	.											.	KCNAB3	30	.	0			c.G132A						PASS	.						3	5	4					17																	7832622		1903	3833	5736	SO:0001819	synonymous_variant	9196	exon1			ACCCCCCGGAGGA	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.132G>A	17.37:g.7832622C>T		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	28	0.411765	NM_004732	Q4VAW0	Silent	SNP	ENST00000303790.2	37	CCDS11124.1																																																																																			.	.	none		0.761	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		T	7832622	C	T	7832622	2	4	35	1	0	0	0	0	0	0	0	1	8011	639	23	1		1	KCNAB3	17	7832622	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	170296	7832622	73362588	319	23546										
WDR16	146845	hgsc.bcm.edu	37	chr17	9515643	9515643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaggaagattcagttacaagGcggcatcacttctatcacac	8	10	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:9515643G>A	ENST00000352665.5	+	8	941	c.872G>A	c.(871-873)gGc>gAc	p.G291D	WDR16_ENST00000396219.3_Missense_Mutation_p.G223D|WDR16_ENST00000299764.5_Missense_Mutation_p.G301D	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGTTACAAGGCGGCATCACT	0.428																																					p.G291D		Atlas-SNP	.											.	WDR16	67	.	0			c.G872A						PASS	.						123	108	113					17																	9515643		2203	4300	6503	SO:0001583	missense	146845	exon8			TACAAGGCGGCAT	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.872G>A	17.37:g.9515643G>A	ENSP00000339449:p.Gly291Asp	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	61	19	0.311475	NM_145054		Missense_Mutation	SNP	ENST00000352665.5	37	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944743	0.73672	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.18016	2.47;2.84;2.24	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.097447	0.64402	D	0.000001	T	0.31451	0.0797	M	0.83603	2.65	0.80722	D	1	P;P;D	0.53885	0.79;0.87;0.963	B;P;P	0.45558	0.377;0.453;0.485	T	0.16041	-1.0416	10	0.37606	T	0.19	-21.2963	18.2327	0.89939	0.0:0.0:1.0:0.0	.	301;223;291	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	D	291;223;301	ENSP00000339449:G291D;ENSP00000379521:G223D;ENSP00000299764:G301D	ENSP00000299764:G301D	G	+	2	0	WDR16	9456368	1.000000	0.71417	0.993000	0.49108	0.591000	0.36615	7.220000	0.78008	2.585000	0.87301	0.557000	0.71058	GGC	.	.	none		0.428	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		A	9515643	G	A	9515643	3	1	35	1	0	0	0	0	1	0	0	0	17273	1203	42	2	902	2	WDR16	17	9515643	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1683021	9515643	71679567	320	23547										
DNAH9	1770	hgsc.bcm.edu	37	chr17	11608409	11608409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttgggatgacgaggtcaaacActgctttgccaacatctgtg	11	9	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:11608409A>C	ENST00000262442.4	+	26	5527	c.5459A>C	c.(5458-5460)cAc>cCc	p.H1820P	DNAH9_ENST00000454412.2_Missense_Mutation_p.H1820P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1820	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGTCAAACACTGCTTTGCC	0.502																																					p.H1820P		Atlas-SNP	.											.	DNAH9	695	.	0			c.A5459C						PASS	.						222	171	188					17																	11608409		2203	4300	6503	SO:0001583	missense	1770	exon26			TCAAACACTGCTT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5459A>C	17.37:g.11608409A>C	ENSP00000262442:p.His1820Pro	Somatic	246	0	0		WXS	Illumina HiSeq	Phase_I	172	45	0.261628	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413784	0.83449	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26373	1.78;1.74	5.73	5.73	0.89815	.	0.817102	0.11759	N	0.532278	T	0.58264	0.2110	M	0.89840	3.065	0.80722	D	1	D	0.59357	0.985	P	0.61070	0.883	T	0.61584	-0.7033	10	0.59425	D	0.04	.	16.0174	0.80450	1.0:0.0:0.0:0.0	.	1820	Q9NYC9	DYH9_HUMAN	P	1820;1820;402	ENSP00000262442:H1820P;ENSP00000414874:H1820P	ENSP00000262442:H1820P	H	+	2	0	DNAH9	11549134	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.287000	0.95975	2.186000	0.69663	0.533000	0.62120	CAC	.	.	none		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11608409	A	C	11608409	3	2	35	1	0	0	0	0	1	0	0	0	4608	159	6	5	5561	5	DNAH9	17	11608409	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	2092766	11608409	69586801	321	23548										
SHMT1	6470	hgsc.bcm.edu	37	chr17	18259246	18259246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgccagcatcttgtcatgtGaggaccacaggtcagcatcc	11	12	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:18259246G>A	ENST00000316694.3	-	2	184	c.50C>T	c.(49-51)tCa>tTa	p.S17L	SHMT1_ENST00000539052.1_5'UTR|SHMT1_ENST00000354098.3_Missense_Mutation_p.S17L|SHMT1_ENST00000352886.6_Missense_Mutation_p.S17L	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	17					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CTTGTCATGTGAGGACCACAG	0.463																																					p.S17L		Atlas-SNP	.											.	SHMT1	36	.	0			c.C50T						PASS	.						104	88	94					17																	18259246		2203	4300	6503	SO:0001583	missense	6470	exon2			TCATGTGAGGACC		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.50C>T	17.37:g.18259246G>A	ENSP00000318868:p.Ser17Leu	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	70	10	0.142857	NM_148918	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738814	0.49045	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000354098;ENST00000395685;ENST00000395682	T;T;T	0.28454	1.61;1.61;1.61	5.13	4.15	0.48705	Pyridoxal phosphate-dependent transferase, major domain (1);	0.055757	0.64402	N	0.000001	T	0.31638	0.0803	L	0.57536	1.79	0.80722	D	1	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.15052	0.002;0.002;0.012;0.001	T	0.12604	-1.0541	10	0.54805	T	0.06	-34.6932	13.0663	0.59036	0.0785:0.0:0.9215:0.0	.	17;17;17;17	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	L	17	ENSP00000318868:S17L;ENSP00000345881:S17L;ENSP00000318805:S17L	ENSP00000318868:S17L	S	-	2	0	SHMT1	18199971	1.000000	0.71417	0.735000	0.30896	0.974000	0.67602	3.637000	0.54324	1.288000	0.44600	0.650000	0.86243	TCA	.	.	none		0.463	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		A	18259246	G	A	18259246	3	1	35	1	0	0	0	0	1	0	0	0	14285	1294	45	2	1445	2	SHMT1	17	18259246	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	6650837	18259246	62935964	322	23549										
SPAG5	10615	hgsc.bcm.edu	37	chr17	26919738	26919738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acctgtctcccatgcagggtGccacctcctctctcaccaga	7	18	3	1	rs149403082		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:26919738G>A	ENST00000321765.5	-	3	856	c.524C>T	c.(523-525)gCa>gTa	p.A175V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	175					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CATGCAGGGTGCCACCTCCTC	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21845	0.0		0.0	False		,,,				2504	0.0				p.A175V		Atlas-SNP	.											.	SPAG5	92	.	0			c.C524T						PASS	.	G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	128	127	128		524	1.6	0	17	dbSNP_134	128	0,8600		0,0,4300	no	missense	SPAG5	NM_006461.3	64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	175/1194	26919738	4,13002	2203	4300	6503	SO:0001583	missense	10615	exon3			CAGGGTGCCACCT	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.524C>T	17.37:g.26919738G>A	ENSP00000323300:p.Ala175Val	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	103	37	0.359223	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	3.453	-0.111589	0.06881	9.08E-4	0.0	ENSG00000076382	ENST00000321765	T	0.25414	1.8	5.89	1.63	0.23807	.	0.635159	0.14929	N	0.290200	T	0.23054	0.0557	M	0.62723	1.935	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.25117	-1.0141	10	0.72032	D	0.01	-0.0103	5.0763	0.14632	0.2345:0.0:0.6218:0.1437	.	175	Q96R06	SPAG5_HUMAN	V	175	ENSP00000323300:A175V	ENSP00000323300:A175V	A	-	2	0	SPAG5	23943865	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.541000	0.23207	0.383000	0.24910	0.655000	0.94253	GCA	G|1.000;A|0.000	0.000	strong		0.463	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26919738	G	A	26919738	3	1	35	1	0	0	0	0	1	0	0	0	14981	1319	46	2	3145	2	SPAG5	17	26919738	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8660492	26919738	54275472	323	23550										
FBXL20	84961	hgsc.bcm.edu	37	chr17	37557627	37557627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcacacctcaaacctgctcTtggtcactccgttcacgtcc	5	18	5	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:37557627T>G	ENST00000264658.6	-	1	289	c.29A>C	c.(28-30)aAg>aCg	p.K10T	FBXL20_ENST00000583610.1_Missense_Mutation_p.K10T|FBXL20_ENST00000577399.1_Intron|FBXL20_ENST00000394294.3_Missense_Mutation_p.K10T|CTB-131K11.1_ENST00000582842.1_RNA	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	10					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AAACCTGCTCTTGGTCACTCC	0.726																																					p.K10T		Atlas-SNP	.											.	FBXL20	36	.	0			c.A29C						PASS	.						48	32	38					17																	37557627		2201	4297	6498	SO:0001583	missense	84961	exon1			CTGCTCTTGGTCA	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.29A>C	17.37:g.37557627T>G	ENSP00000264658:p.Lys10Thr	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	107	33	0.308411	NM_001184906	A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655110	0.47467	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12147	2.72;2.71	3.8	3.8	0.43715	.	0.421938	0.23213	U	0.050657	T	0.09113	0.0225	L	0.34521	1.04	0.80722	D	1	B;B	0.13145	0.007;0.003	B;B	0.14023	0.01;0.004	T	0.15723	-1.0427	10	0.15066	T	0.55	.	7.424	0.27088	0.0:0.1063:0.0:0.8937	.	10;10	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	T	10	ENSP00000264658:K10T;ENSP00000377832:K10T	ENSP00000264658:K10T	K	-	2	0	FBXL20	34811153	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.098000	0.41757	1.703000	0.51240	0.397000	0.26171	AAG	.	.	none		0.726	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		G	37557627	T	G	37557627	3	3	35	1	0	0	0	0	1	0	0	0	5717	1609	56	5	1341	5	FBXL20	17	37557627	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	10637889	37557627	43637583	324	23551										
CDK12	51755	hgsc.bcm.edu	37	chr17	37627743	37627743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcagacaccccctttgccacCtttgcctccaataccagctc	4	19	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:37627743C>T	ENST00000447079.4	+	2	1691	c.1658C>T	c.(1657-1659)cCt>cTt	p.P553L	CDK12_ENST00000430627.2_Missense_Mutation_p.P553L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	553					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTTTGCCACCTTTGCCTCCA	0.547			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																											p.P553L		Atlas-SNP	.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	CDK12	161	.	0			c.C1658T						PASS	.						211	198	203					17																	37627743		2203	4300	6503	SO:0001583	missense	51755	exon2			TGCCACCTTTGCC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1658C>T	17.37:g.37627743C>T	ENSP00000398880:p.Pro553Leu	Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	166	60	0.361446	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013687	0.54468	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72615	-0.64;-0.67	5.89	5.89	0.94794	.	0.000000	0.48767	D	0.000165	T	0.72779	0.3503	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.63906	-0.6531	10	0.02654	T	1	-10.7187	19.2499	0.93919	0.0:1.0:0.0:0.0	.	552;553;553	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	553	ENSP00000407720:P553L;ENSP00000398880:P553L	ENSP00000407720:P553L	P	+	2	0	CDK12	34881269	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.871000	0.69628	2.793000	0.96121	0.655000	0.94253	CCT	.	.	none		0.547	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37627743	C	T	37627743	3	4	35	1	0	0	0	0	1	0	0	0	3128	681	24	2	1664	2	CDK12	17	37627743	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	70116	37627743	43567467	325	23552										
KRT23	25984	hgsc.bcm.edu	37	chr17	39092714	39092714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gggtgggcagctccgcgtggTgaaggacagggagatgcggg	22	7	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:39092714T>C	ENST00000209718.3	-	2	566	c.142A>G	c.(142-144)Acc>Gcc	p.T48A	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	48	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTCCGCGTGGTGAAGGACAGG	0.677																																					p.T48A		Atlas-SNP	.											.	KRT23	59	.	0			c.A142G						PASS	.						42	48	46					17																	39092714		2203	4300	6503	SO:0001583	missense	25984	exon2			GCGTGGTGAAGGA	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.142A>G	17.37:g.39092714T>C	ENSP00000209718:p.Thr48Ala	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	69	9	0.130435	NM_015515	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	T	4.039	0.004794	0.07866	.	.	ENSG00000108244	ENST00000209718	D	0.81579	-1.51	5.73	0.828	0.18841	.	0.380192	0.22341	N	0.061323	T	0.53916	0.1826	N	0.08118	0	0.37959	D	0.932911	B	0.06786	0.001	B	0.04013	0.001	T	0.22626	-1.0211	10	0.14252	T	0.57	.	3.9587	0.09401	0.3632:0.2514:0.0:0.3854	.	48	Q9C075	K1C23_HUMAN	A	48	ENSP00000209718:T48A	ENSP00000209718:T48A	T	-	1	0	KRT23	36346240	0.023000	0.18921	0.806000	0.32338	0.292000	0.27327	-0.784000	0.04633	-0.152000	0.11156	0.455000	0.32223	ACC	.	.	none		0.677	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			C	39092714	T	C	39092714	3	2	35	1	0	0	0	0	1	0	0	0	8460	1696	59	2	1158	2	KRT23	17	39092714	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	1464971	39092714	42102496	326	23553										
ATP6V0A1	535	hgsc.bcm.edu	37	chr17	40666448	40666448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cctgatcatggagggcctctCggcctttctccacgcactgc	10	16	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:40666448C>T	ENST00000343619.4	+	21	2513	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S748L|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S791L|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S754L|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S798L|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S797L|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S443L|RP11-400F19.18_ENST00000591237.1_RNA	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	797					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GAGGGCCTCTCGGCCTTTCTC	0.612																																					p.S798L		Atlas-SNP	.											.	ATP6V0A1	67	.	0			c.C2393T						PASS	.						143	121	128					17																	40666448		2203	4300	6503	SO:0001583	missense	535	exon20			GCCTCTCGGCCTT	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2390C>T	17.37:g.40666448C>T	ENSP00000342951:p.Ser797Leu	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	80	11	0.1375	NM_001130020	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	34	5.303011	0.95601	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.97829	4.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.999;0.998;0.999;1.0	D	0.99013	1.0815	10	0.87932	D	0	-9.722	17.5259	0.87800	0.0:1.0:0.0:0.0	.	748;754;798;797;791	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	L	797;797;791;798;748;443	ENSP00000342951:S797L;ENSP00000444676:S797L;ENSP00000377415:S791L;ENSP00000264649:S798L;ENSP00000443991:S748L;ENSP00000446377:S443L	ENSP00000264649:S798L	S	+	2	0	ATP6V0A1	37919974	1.000000	0.71417	0.953000	0.39169	0.939000	0.58152	7.643000	0.83403	2.390000	0.81377	0.561000	0.74099	TCG	.	.	none		0.612	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		T	40666448	C	T	40666448	3	4	35	1	0	0	0	0	1	0	0	0	1168	893	31	1	2489	1	ATP6V0A1	17	40666448	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1573734	40666448	40528762	327	23554										
BRCA1	672	hgsc.bcm.edu	37	chr17	41245531	41245531	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cttggctccagttgcaggttCtttaccttccatgagttgta	9	10	1	1	rs80357638|rs80357391		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:41245531C>T	ENST00000357654.3	-	10	2135	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E377K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E673K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E673K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E626K|BRCA1_ENST00000354071.3_Missense_Mutation_p.E673K|BRCA1_ENST00000468300.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	673					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTGCAGGTTCTTTACCTTCC	0.408			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.E673K		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	BRCA1,NS,carcinoma,0,1	BRCA1	304	1	0			c.G2017A						PASS	.						111	98	103					17																	41245531		2202	4300	6502	SO:0001583	missense	672	exon10	Familial Cancer Database		CAGGTTCTTTACC	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2017G>A	17.37:g.41245531C>T	ENSP00000350283:p.Glu673Lys	Somatic	323	0	0		WXS	Illumina HiSeq	Phase_I	223	40	0.179372	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925121	0.52759	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000028	D	0.93054	0.7789	M	0.92555	3.32	0.36954	D	0.893016	D;D;D;P;P;P	0.89917	1.0;1.0;0.987;0.877;0.707;0.851	D;D;D;P;P;P	0.97110	1.0;1.0;0.963;0.627;0.838;0.55	D	0.95953	0.8956	10	0.87932	D	0	.	16.5462	0.84446	0.0:1.0:0.0:0.0	.	673;632;673;673;673;673	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	K	673;673;673;673;377;673;626	ENSP00000350283:E673K;ENSP00000326002:E673K;ENSP00000246907:E673K;ENSP00000310938:E377K;ENSP00000418960:E673K;ENSP00000418775:E626K	ENSP00000310938:E377K	E	-	1	0	BRCA1	38499057	0.991000	0.36638	0.596000	0.28811	0.097000	0.18754	3.270000	0.51600	2.581000	0.87130	0.561000	0.74099	GAA	.	.	alt		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		T	41245531	C	T	41245531	3	4	35	1	0	0	0	0	1	0	0	0	1498	922	32	2	3700	2	BRCA1	17	41245531	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	579083	41245531	39949679	328	23555										
NPEPPS	9520	hgsc.bcm.edu	37	chr17	45699275	45699275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttcagcggaaggcctcaccaCccacagtgtgaatcctgagg	11	13	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:45699275C>G	ENST00000322157.4	+	23	2986	c.2749C>G	c.(2749-2751)Ccc>Gcc	p.P917A	NPEPPS_ENST00000544660.1_Missense_Mutation_p.P837A|RP11-580I16.2_ENST00000584391.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.P913A|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	917					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCTCACCACCCACAGTGTG	0.527																																					p.P917A		Atlas-SNP	.											.	NPEPPS	59	.	0			c.C2749G						PASS	.						35	35	35					17																	45699275		1964	4166	6130	SO:0001583	missense	9520	exon23			TCACCACCCACAG	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2749C>G	17.37:g.45699275C>G	ENSP00000320324:p.Pro917Ala	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	62	14	0.225806	NM_006310	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	5.074	0.199356	0.09652	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660;ENST00000528565	T;T;T;T	0.45668	5.14;5.15;5.03;0.89	5.8	3.78	0.43462	.	0.259526	0.39020	N	0.001489	T	0.24774	0.0601	N	0.22421	0.69	0.21527	N	0.999656	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13388	-1.0511	10	0.34782	T	0.22	.	5.2014	0.15267	0.1937:0.3949:0.3422:0.0692	.	913;917	E9PLK3;P55786	.;PSA_HUMAN	A	913;917;837;167	ENSP00000433287:P913A;ENSP00000320324:P917A;ENSP00000442461:P837A;ENSP00000433549:P167A	ENSP00000320324:P917A	P	+	1	0	NPEPPS	43054274	0.798000	0.28890	0.059000	0.19551	0.487000	0.33371	1.145000	0.31577	0.761000	0.33130	0.561000	0.74099	CCC	.	.	none		0.527	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		G	45699275	C	G	45699275	3	3	35	1	0	0	0	0	1	0	0	0	10575	507	18	4	2839	4	NPEPPS	17	45699275	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	4453744	45699275	35495935	329	23556										
KIF2B	84643	hgsc.bcm.edu	37	chr17	51900705	51900705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cttggctctggcgccctcttCggccatcagggaccagcgta	12	15	3	0	rs371085430		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:51900705C>T	ENST00000268919.4	+	1	467	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGCCCTCTTCGGCCATCAGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15275	0.001		0.0	False		,,,				2504	0.0				p.S104L		Atlas-SNP	.											KIF2B,NS,carcinoma,-1,2	KIF2B	254	2	0			c.C311T						scavenged	.	C	LEU/SER	0,4406		0,0,2203	89	98	95		311	2.9	0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	104/674	51900705	1,13005	2203	4300	6503	SO:0001583	missense	84643	exon1			CCTCTTCGGCCAT	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.311C>T	17.37:g.51900705C>T	ENSP00000268919:p.Ser104Leu	Somatic	62	1	0.016129		WXS	Illumina HiSeq	Phase_I	47	12	0.255319	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.340855	0.05243	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74106	-0.81	4.96	2.93	0.34026	.	1.236910	0.06126	U	0.669728	T	0.64605	0.2613	L	0.49778	1.585	0.09310	N	1	P	0.37731	0.607	B	0.29785	0.107	T	0.49844	-0.8896	10	0.23891	T	0.37	.	7.475	0.27371	0.1646:0.7497:0.0:0.0857	.	104	Q8N4N8	KIF2B_HUMAN	L	104;27	ENSP00000268919:S104L	ENSP00000268919:S104L	S	+	2	0	KIF2B	49255704	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.901000	0.39838	0.763000	0.33175	0.655000	0.94253	TCG	.	.	weak		0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900705	C	T	51900705	3	4	35	1	0	0	0	0	1	0	0	0	8298	893	31	1	313	1	KIF2B	17	51900705	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6201430	51900705	29294505	330	23557										
GH1	2688	hgsc.bcm.edu	37	chr17	61995272	61995272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gagcagcagggagatgcggaGcagctctaggttctgcaggg	18	8	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:61995272G>A	ENST00000323322.5	-	4	346	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	GH1_ENST00000342364.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.L87F|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.L62F	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	102					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GAGATGCGGAGCAGCTCTAGG	0.642																																					p.L102F		Atlas-SNP	.											.	GH1	39	.	0			c.C304T						PASS	.						71	73	72					17																	61995272		2203	4300	6503	SO:0001583	missense	2688	exon4			TGCGGAGCAGCTC	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.304C>T	17.37:g.61995272G>A	ENSP00000312673:p.Leu102Phe	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	75	20	0.266667	NM_000515	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.255074	0.39896	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.92752	-3.1;-3.1;-3.1	2.86	2.86	0.33363	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000001	D	0.96466	0.8847	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.95291	0.8395	10	0.87932	D	0	.	5.8888	0.18896	0.151:0.0:0.849:0.0	.	102;62;102;87	C9JYZ1;A6NEF6;P01241;B1A4G7	.;.;SOMA_HUMAN;.	F	102;87;62	ENSP00000312673:L102F;ENSP00000408486:L87F;ENSP00000343791:L62F	ENSP00000312673:L102F	L	-	1	0	GH1	59349004	1.000000	0.71417	0.991000	0.47740	0.430000	0.31655	4.851000	0.62896	1.594000	0.50039	0.298000	0.19748	CTC	.	.	none		0.642	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		A	61995272	G	A	61995272	3	1	35	1	0	0	0	0	1	0	0	0	6367	971	34	2	357	2	GH1	17	61995272	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	10094567	61995272	19199938	331	23558										
FAM104A	84923	hgsc.bcm.edu	37	chr17	71228291	71228291	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcggcgccgctccgcgaagaGagggaacagagggggttgtg	20	9	0	2	rs569512877		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:71228291G>A	ENST00000403627.3	-	1	215	c.155C>T	c.(154-156)tCt>tTt	p.S52F	C17orf80_ENST00000268942.8_5'Flank|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000405159.3_Missense_Mutation_p.S52F|C17orf80_ENST00000359042.2_5'Flank|C17orf80_ENST00000577615.1_5'Flank|C17orf80_ENST00000535032.2_5'Flank|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000583024.1_Missense_Mutation_p.S52F|FAM104A_ENST00000581110.1_Missense_Mutation_p.S52F|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000255557.4_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	52										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCCGCGAAGAGAGGGAACAGA	0.706																																					p.S52F		Atlas-SNP	.											.	FAM104A	15	.	0			c.C155T						PASS	.						18	22	20					17																	71228291		2200	4297	6497	SO:0001583	missense	84923	exon1			CGAAGAGAGGGAA	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.155C>T	17.37:g.71228291G>A	ENSP00000384648:p.Ser52Phe	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	93	29	0.311828	NM_032837	B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965297	0.34659	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.50813	0.76;0.73	4.75	1.61	0.23674	.	.	.	.	.	T	0.24928	0.0605	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.19484	-1.0304	9	0.62326	D	0.03	.	4.6392	0.12540	0.2012:0.1899:0.609:0.0	.	52;52	Q969W3-2;Q969W3	.;F104A_HUMAN	F	52	ENSP00000384648:S52F;ENSP00000384832:S52F	ENSP00000384648:S52F	S	-	2	0	FAM104A	68739886	0.671000	0.27521	0.000000	0.03702	0.019000	0.09904	2.392000	0.44433	0.209000	0.20645	0.655000	0.94253	TCT	.	.	none		0.706	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		A	71228291	G	A	71228291	3	1	35	1	0	0	0	0	1	0	0	0	5385	942	33	2	484	2	FAM104A	17	71228291	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	9233019	71228291	9966919	332	23559										
C1QTNF1	114897	hgsc.bcm.edu	37	chr17	77043849	77043849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acggagttcgtgaacctctaCgaccacttcaacatgttcac	7	13	3	1	rs566729160		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:77043849C>T	ENST00000339142.2	+	5	1080	c.525C>T	c.(523-525)taC>taT	p.Y175Y	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Silent_p.Y93Y|C1QTNF1_ENST00000354124.3_Silent_p.Y185Y|C1QTNF1_ENST00000583904.1_Silent_p.Y175Y|C1QTNF1_ENST00000580454.1_Silent_p.Y175Y|C1QTNF1_ENST00000581774.1_Silent_p.Y175Y|C1QTNF1_ENST00000392445.2_Silent_p.Y175Y|C1QTNF1_ENST00000579760.1_Silent_p.Y175Y|C1QTNF1_ENST00000578229.1_Silent_p.Y93Y|C1QTNF1_ENST00000580474.1_Silent_p.Y175Y	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	175	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGAACCTCTACGACCACTTCA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19992	0.0		0.001	False		,,,				2504	0.0				p.Y175Y		Atlas-SNP	.											.	C1QTNF1	62	.	0			c.C525T						PASS	.						161	146	151					17																	77043849		2203	4300	6503	SO:0001819	synonymous_variant	114897	exon4			CCTCTACGACCAC	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.525C>T	17.37:g.77043849C>T		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	60	24	0.4	NM_030968	Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	CCDS11761.1																																																																																			.	.	none		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		T	77043849	C	T	77043849	2	4	35	1	0	0	0	0	0	0	0	1	1962	547	19	1		1	C1QTNF1	17	77043849	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5815558	77043849	4151361	333	23560										
ACTG1	71	hgsc.bcm.edu	37	chr17	79479257	79479257	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccgcggcgccatccactcaCctggtgtctggggcgcccga	13	18	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:79479257C>T	ENST00000575842.1	-	1	550		c.e1+1		ACTG1_ENST00000575087.1_Splice_Site|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Splice_Site|ACTG1_ENST00000573283.1_Splice_Site|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CATCCACTCACCTGGTGTCTG	0.672																																					.		Atlas-SNP	.											.	ACTG1	55	.	0			c.123+1G>A						PASS	.						41	50	47					17																	79479257		2202	4300	6502	SO:0001630	splice_region_variant	71	exon3			CACTCACCTGGTG		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.123+1G>A	17.37:g.79479257C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	97	10	0.103093	NM_001199954	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Splice_Site	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172931	0.38413	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3213	0.66489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTG1	77093852	1.000000	0.71417	0.965000	0.40720	0.234000	0.25298	5.468000	0.66743	1.871000	0.54225	0.563000	0.77884	.	.	.	none		0.672	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614	Intron	T	79479257	C	T	79479257	5	4	35	1	0	0	0	0	0	0	1	0	196	521	18	2	1023	2	ACTG1	17	79479257	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2435408	79479257	1715953	334	23561										
HGS	9146	hgsc.bcm.edu	37	chr17	79663744	79663744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cagacggtccagatgcgcgcGcagatgcccgccttccccct	11	18	0	3	rs190451033	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:79663744G>A	ENST00000329138.4	+	17	1809	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	558	Gln-rich.|Interaction with NF2.|Interaction with STAM1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGATGCGCGCGCAGATGCCCG	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		14915	0.0		0.001	False		,,,				2504	0.001				p.A558A		Atlas-SNP	.											.	HGS	54	.	0			c.G1674A						PASS	.	G		0,4406		0,0,2203	44	55	51		1674	-2.9	0.9	17		51	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HGS	NM_004712.4		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		558/778	79663744	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9146	exon17			GCGCGCGCAGATG	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1674G>A	17.37:g.79663744G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_004712	Q9NR36	Silent	SNP	ENST00000329138.4	37	CCDS11784.1																																																																																			G|1.000;A|0.000	0.000	strong		0.662	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		A	79663744	G	A	79663744	2	1	35	1	0	0	0	0	0	0	0	1	7087	1074	38	1		1	HGS	17	79663744	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	184487	79663744	1531466	335	23562										
DYSFIP1	116729	hgsc.bcm.edu	37	chr17	79791648	79791648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agagctccaccagctccttgTagtccgggtcgatgaggtcg	13	12	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:79791648T>C	ENST00000330261.4	-	3	501	c.422A>G	c.(421-423)tAc>tGc	p.Y141C	FAM195B_ENST00000573478.1_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|FAM195B_ENST00000572645.1_5'Flank|PPP1R27_ENST00000573182.1_5'UTR|PPP1R27_ENST00000570394.1_3'UTR|FAM195B_ENST00000538396.1_5'Flank|FAM195B_ENST00000455127.2_5'Flank	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	141					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGCTCCTTGTAGTCCGGGTC	0.662																																					p.Y141C		Atlas-SNP	.											.	.	.	.	0			c.A422G						PASS	.						73	50	58					17																	79791648		2174	4259	6433	SO:0001583	missense	116729	exon3			TCCTTGTAGTCCG	AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	16813	protein-coding gene	gene with protein product			"dysferlin-interacting protein 1 (toonin)", "dysferlin interacting protein 1 (toonin)", "dysferlin interacting protein 1"	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.422A>G	17.37:g.79791648T>C	ENSP00000331065:p.Tyr141Cys	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	17	0.314815	NM_001007533		Missense_Mutation	SNP	ENST00000330261.4	37	CCDS32767.1	.	.	.	.	.	.	.	.	.	.	t	10.85	1.466188	0.26335	.	.	ENSG00000182676	ENST00000330261	T	0.61859	0.07	4.6	2.22	0.28083	.	0.335152	0.31601	N	0.007361	T	0.31606	0.0802	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04373	-1.0956	10	0.27785	T	0.31	.	7.7153	0.28700	0.4418:0.0:0.0:0.5582	.	141	Q86WC6	PPR27_HUMAN	C	141	ENSP00000331065:Y141C	ENSP00000331065:Y141C	Y	-	2	0	DYSFIP1	77384937	0.885000	0.30320	0.999000	0.59377	0.615000	0.37417	0.378000	0.20569	0.601000	0.29879	-0.425000	0.05940	TAC	.	.	none		0.662	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533		C	79791648	T	C	79791648	3	2	35	1	0	0	0	0	1	0	0	0	4860	1638	57	2	46	2	DYSFIP1	17	79791648	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	127904	79791648	1403562	336	23563										
FASN	2194	hgsc.bcm.edu	37	chr17	80046669	80046669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcctgccgatgccggccagGaagaactccaggttgtccct	12	14	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr17:80046669G>T	ENST00000306749.2	-	15	2606	c.2388C>A	c.(2386-2388)ttC>ttA	p.F796L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	796	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGCCGGCCAGGAAGAACTCCA	0.682																																					p.F796L	Colon(59;314 1043 11189 28578 32273)	Atlas-SNP	.											.	FASN	154	.	0			c.C2388A						PASS	.						41	43	42					17																	80046669		2202	4296	6498	SO:0001583	missense	2194	exon15			GGCCAGGAAGAAC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2388C>A	17.37:g.80046669G>T	ENSP00000304592:p.Phe796Leu	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	51	19	0.372549	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841118	0.51057	.	.	ENSG00000169710	ENST00000306749	T	0.47869	0.83	4.16	1.42	0.22433	Acyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.21448	0.665	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.27054	-1.0085	10	0.17832	T	0.49	-23.5367	7.5118	0.27577	0.1229:0.1518:0.7253:0.0	.	796	P49327	FAS_HUMAN	L	796	ENSP00000304592:F796L	ENSP00000304592:F796L	F	-	3	2	FASN	77639958	1.000000	0.71417	0.958000	0.39756	0.212000	0.24457	4.590000	0.61013	0.100000	0.17581	0.462000	0.41574	TTC	.	.	none		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80046669	G	T	80046669	3	4	35	1	0	0	0	0	1	0	0	0	5683	1165	41	4	5263	4	FASN	17	80046669	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	255021	80046669	1148541	337	23564										
LRRC30	339291	hgsc.bcm.edu	37	chr18	7231257	7231257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgctctcgggaagggacccgCggtccctgctgaagcggggc	17	13	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr18:7231257C>T	ENST00000383467.2	+	1	135	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	41										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGGACCCGCGGTCCCTGCT	0.617																																					p.R41W		Atlas-SNP	.											.	LRRC30	68	.	0			c.C121T						PASS	.						69	74	72					18																	7231257		1973	4153	6126	SO:0001583	missense	339291	exon1			GACCCGCGGTCCC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.121C>T	18.37:g.7231257C>T	ENSP00000372959:p.Arg41Trp	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	39	10	0.25641	NM_001105581		Missense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678390	0.47886	.	.	ENSG00000206422	ENST00000383467	T	0.47528	0.84	5.65	0.876	0.19138	.	0.050447	0.64402	D	0.000001	T	0.50735	0.1633	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.61722	0.893	T	0.52087	-0.8622	10	0.66056	D	0.02	.	13.9302	0.63991	0.7158:0.2841:0.0:0.0	.	41	A6NM36	LRC30_HUMAN	W	41	ENSP00000372959:R41W	ENSP00000372959:R41W	R	+	1	2	LRRC30	7221257	0.337000	0.24766	0.022000	0.16811	0.671000	0.39405	0.831000	0.27476	0.343000	0.23821	0.650000	0.86243	CGG	.	.	none		0.617	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		T	7231257	C	T	7231257	3	4	35	1	0	0	0	0	1	0	0	0	8985	759	27	1	123	1	LRRC30	18	7231257	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		7231257	70845991	338	23565										
PSMG2	56984	hgsc.bcm.edu	37	chr18	12720538	12720538	+	Frame_Shift_Del	DEL	C	C	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccggtacctacttacaccttCcatgcaaaaaagtgttcaaa							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr18:12720538delC	ENST00000317615.6	+	5	1119	c.437delC	c.(436-438)tccfs	p.S146fs	PSMG2_ENST00000590217.1_Frame_Shift_Del_p.S146fs|PSMG2_ENST00000585331.2_Frame_Shift_Del_p.S115fs	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						CTTACACCTTCCATGCAAAAA	0.338																																					p.S146fs		Atlas-Indel	.											.	PSMG2	17	.	0			c.436delT						PASS	.						55	55	55					18																	12720538		2203	4300	6503	SO:0001589	frameshift_variant	56984	exon5			.	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"hepatocellular carcinoma susceptibility protein", "CD40 ligand-activated specific transcript 3"	609702	"tumor necrosis factor superfamily, member 5-induced protein 1"	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.437delC	18.37:g.12720538delC	ENSP00000325919:p.Ser146fs	Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	144	17	0.118056	NM_020232		Frame_Shift_Del	DEL	ENST00000317615.6	37	CCDS11862.1																																																																																			.	.	none		0.338	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		-	12720538	C	-	12720538	7	5	35	1	0	1	0	1	0	0	0	0	12712	855	30	0	455	0	PSMG2	18	12720538	Frame_Shift_Del	DEL	C	TCGA-GS-A9TZ-01A-11D-A38X-10	5489281	12720538	65356710	339	23566										
PTPN2	5771	hgsc.bcm.edu	37	chr18	12884137	12884137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcccgctcgatggtggtggGcatggctgcgggagcgagct	18	11	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr18:12884137G>A	ENST00000309660.5	-	1	97	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S	PTPN2_ENST00000591115.1_Missense_Mutation_p.P2S|PTPN2_ENST00000353319.4_Missense_Mutation_p.P2S|PTPN2_ENST00000327283.3_Missense_Mutation_p.P2S	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	2					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				ATGGTGGTGGGCATGGCTGCG	0.711																																					p.P2S		Atlas-SNP	.											.	PTPN2	37	.	0			c.C4T						PASS	.						17	15	15					18																	12884137		2178	4288	6466	SO:0001583	missense	5771	exon1			TGGTGGGCATGGC	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.4C>T	18.37:g.12884137G>A	ENSP00000311857:p.Pro2Ser	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	80	15	0.1875	NM_001207013	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.685979	0.00738	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000309660	T;T;T	0.04049	3.73;3.74;3.72	3.74	0.301	0.15781	.	0.171955	0.27577	N	0.018760	T	0.01254	0.0041	N	0.02011	-0.69	0.20975	N	0.999813	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	0.44605	-0.9317	10	0.02654	T	1	.	3.1224	0.06396	0.5705:0.2244:0.2051:0.0	.	2;2;2;2	P17706;P17706-2;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.	S	2	ENSP00000320298:P2S;ENSP00000320546:P2S;ENSP00000311857:P2S	ENSP00000311857:P2S	P	-	1	0	PTPN2	12874137	0.989000	0.36119	0.526000	0.27913	0.038000	0.13279	0.352000	0.20113	-0.103000	0.12175	0.306000	0.20318	CCC	.	.	none		0.711	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		A	12884137	G	A	12884137	3	1	35	1	0	0	0	0	1	0	0	0	12785	1203	42	2	1305	2	PTPN2	18	12884137	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	163599	12884137	65193111	340	23567										
HCN2	610	hgsc.bcm.edu	37	chr19	608077	608077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	atgacggacatctggctgacCatgctcagcatgattgtggg	13	9	2	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:608077C>T	ENST00000251287.2	+	4	1385	c.1332C>T	c.(1330-1332)acC>acT	p.T444T		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	444					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		TCTGGCTGACCATGCTCAGCA	0.622																																					p.T444T	Melanoma(145;1175 2427 8056 36306)	Atlas-SNP	.											HCN2,NS,carcinoma,+1,1	HCN2	36	1	0			c.C1332T						PASS	.						99	80	87					19																	608077		2203	4300	6503	SO:0001819	synonymous_variant	610	exon4			GCTGACCATGCTC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1332C>T	19.37:g.608077C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	49	16	0.326531	NM_001194	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																			.	.	none		0.622	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		T	608077	C	T	608077	2	4	35	1	0	0	0	0	0	0	0	1	6997	581	21	2		2	HCN2	19	608077	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		608077	58520906	341	23568										
HMHA1	23526	hgsc.bcm.edu	37	chr19	1081892	1081892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggccttcgagaacggcaagGagctggtcgagctgtcgcag	16	10	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:1081892G>A	ENST00000313093.2	+	19	2680	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	HMHA1_ENST00000590214.1_Missense_Mutation_p.E844K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E685K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E821K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E452K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E833K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E700K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	817	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		GAACGGCAAGGAGCTGGTCGA	0.662																																					p.E833K		Atlas-SNP	.											.	HMHA1	78	.	0			c.G2497A						PASS	.						74	54	61					19																	1081892		2203	4300	6503	SO:0001583	missense	23526	exon19			GGCAAGGAGCTGG	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2449G>A	19.37:g.1081892G>A	ENSP00000316772:p.Glu817Lys	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	29	9	0.310345	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	35	5.582067	0.96578	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.73	4.73	0.59995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.50993	1.605	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.974;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.932;0.998;0.999	T	0.28396	-1.0045	10	0.56958	D	0.05	-33.2846	16.7261	0.85422	0.0:0.0:1.0:0.0	.	685;833;452;700;817	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	K	833;817;817;685;811;700	ENSP00000439601:E833K;ENSP00000316772:E817K;ENSP00000445109:E685K;ENSP00000438979:E700K	ENSP00000316772:E817K	E	+	1	0	HMHA1	1032892	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.247000	0.95444	2.175000	0.68902	0.550000	0.68814	GAG	.	.	none		0.662	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1081892	G	A	1081892	3	1	35	1	0	0	0	0	1	0	0	0	7240	1175	41	2	2523	2	HMHA1	19	1081892	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	473815	1081892	58047091	342	23569										
C19orf26	255057	hgsc.bcm.edu	37	chr19	1235089	1235089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cccgtggagctggtggacagGaagcgttcggtctccgcatc	15	12	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:1235089G>T	ENST00000382477.2	-	5	622	c.348C>A	c.(346-348)ttC>ttA	p.F116L	C19orf26_ENST00000590083.1_Missense_Mutation_p.F122L|C19orf26_ENST00000215376.6_Missense_Mutation_p.F116L			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	116						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		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)		TGGTGGACAGGAAGCGTTCGG	0.706										HNSCC(14;0.022)																											p.F122L		Atlas-SNP	.											.	C19orf26	31	.	0			c.C366A						PASS	.						25	27	26					19																	1235089		2197	4294	6491	SO:0001583	missense	255057	exon5			GGACAGGAAGCGT	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.348C>A	19.37:g.1235089G>T	ENSP00000371917:p.Phe116Leu	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	91	21	0.230769	NM_152769	O43385	Missense_Mutation	SNP	ENST00000382477.2	37		.	.	.	.	.	.	.	.	.	.	G	13.90	2.373884	0.42105	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.062767	0.64402	D	0.000004	T	0.64316	0.2587	L	0.29908	0.895	0.58432	D	0.999994	D	0.67145	0.996	D	0.77557	0.99	T	0.68591	-0.5368	9	0.62326	D	0.03	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	116	Q8N350-2	.	L	116	.	ENSP00000215376:F116L	F	-	3	2	C19orf26	1186089	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	4.074000	0.57577	2.026000	0.59711	0.561000	0.74099	TTC	.	.	none		0.706	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		T	1235089	G	T	1235089	3	4	35	1	0	0	0	0	1	0	0	0	1916	1165	41	4	1015	4	C19orf26	19	1235089	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	153197	1235089	57893894	343	23570										
LINGO3	645191	hgsc.bcm.edu	37	chr19	2290848	2290848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcccaggaaggcctgcggctCcaccacagccagcagggccc	13	18	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:2290848C>T	ENST00000585527.1	-	1	1175	c.928G>A	c.(928-930)Gag>Aag	p.E310K	LINGO3_ENST00000404279.1_Missense_Mutation_p.E310K			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	310						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GCCTGCGGCTCCACCACAGCC	0.682																																					p.E310K		Atlas-SNP	.											.	LINGO3	19	.	0			c.G928A						PASS	.						13	17	16					19																	2290848		1958	4125	6083	SO:0001583	missense	645191	exon2			GCGGCTCCACCAC	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.928G>A	19.37:g.2290848C>T	ENSP00000467753:p.Glu310Lys	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	128	39	0.304688	NM_001101391		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.624090	0.87560	.	.	ENSG00000220008	ENST00000404279	T	0.79940	-1.32	4.62	4.62	0.57501	.	.	.	.	.	D	0.86464	0.5939	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.86507	0.1807	9	0.44086	T	0.13	.	16.0085	0.80380	0.0:1.0:0.0:0.0	.	310	P0C6S8	LIGO3_HUMAN	K	310	ENSP00000384979:E310K	ENSP00000384979:E310K	E	-	1	0	LINGO3	2241848	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.841000	0.55850	2.102000	0.63906	0.462000	0.41574	GAG	.	.	none		0.682	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		T	2290848	C	T	2290848	3	4	35	1	0	0	0	0	1	0	0	0	8816	864	30	2	854	2	LINGO3	19	2290848	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1055759	2290848	56838135	344	23571										
MUC16	94025	hgsc.bcm.edu	37	chr19	9006370	9006370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaggtcagtctgcagccagaAtacagagggccaacactggt	12	10	2	2	rs79341062	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:9006370A>G	ENST00000397910.4	-	45	39851	c.39648T>C	c.(39646-39648)taT>taC	p.Y13216Y	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13218	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGCCAGAATACAGAGGGC	0.522																																					p.Y13216Y		Atlas-SNP	.											MUC16_ENST00000397910,NS,carcinoma,-2,2	MUC16	4315	2	0			c.T39648C						scavenged	.						104	85	91					19																	9006370		2007	4178	6185	SO:0001819	synonymous_variant	94025	exon45			GCCAGAATACAGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39648T>C	19.37:g.9006370A>G		Somatic	36	2	0.0555556		WXS	Illumina HiSeq	Phase_I	31	5	0.16129	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.163	-0.391777	0.04932	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.73	-2.09	0.07232	.	.	.	.	.	T	0.36799	0.0980	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44544	-0.9321	3	.	.	.	-18.4462	7.5909	0.28021	0.6138:0.0:0.3862:0.0	.	.	.	.	T	56	.	.	I	-	2	0	MUC16	8867370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.632000	0.00870	-0.715000	0.04968	-2.373000	0.00235	ATT	A|0.500;G|0.500	0.500	strong		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9006370	A	G	9006370	2	3	35	1	0	0	0	0	0	0	0	1	9973	108	4	2		2	MUC16	19	9006370	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	6715522	9006370	50122613	345	23572										
SMARCA4	6597	hgsc.bcm.edu	37	chr19	11134230	11134230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggaaaccattctcatcatcCggcgtctccacaaagtgctg	8	13	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:11134230C>T	ENST00000429416.3	+	21	3177	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R966W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R966W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R966W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R966W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R966W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	966					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R966W(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTCATCATCCGGCGTCTCCA	0.567			"F, N, Mis"		NSCLC																																p.R966W		Atlas-SNP	.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	SMARCA4_ENST00000358026,caecum,carcinoma,-1,7	SMARCA4	502	7	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	c.C2896T						PASS	.						68	61	63					19																	11134230		2203	4300	6503	SO:0001583	missense	6597	exon20			ATCATCCGGCGTC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2896C>T	19.37:g.11134230C>T	ENSP00000395654:p.Arg966Trp	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649626	0.87958	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.88906	2.99	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.994;0.965;0.999;0.999	D	0.97864	1.0282	10	0.87932	D	0	-18.8931	16.9975	0.86372	0.0:1.0:0.0:0.0	.	966;966;966;966;966;186;966;966	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	966;966;1030;966;966;966;966;966	ENSP00000395654:R966W;ENSP00000350720:R966W;ENSP00000343896:R966W;ENSP00000445036:R966W;ENSP00000392837:R966W;ENSP00000397783:R966W;ENSP00000414727:R966W	ENSP00000343896:R966W	R	+	1	2	SMARCA4	10995230	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.576000	0.60915	2.542000	0.85734	0.655000	0.94253	CGG	.	.	none		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11134230	C	T	11134230	3	4	35	1	0	0	0	0	1	0	0	0	14770	643	23	1	2970	1	SMARCA4	19	11134230	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2127860	11134230	47994753	346	23573										
DOCK6	57572	hgsc.bcm.edu	37	chr19	11325005	11325005	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgctgcaagaagagggcactCtgggcactgcccaggctgta	14	11	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:11325005C>T	ENST00000294618.7	-	34	4295	c.4284G>A	c.(4282-4284)caG>caA	p.Q1428Q	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.Q767Q	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1428					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGAGGGCACTCTGGGCACTGC	0.582																																					p.Q1428Q		Atlas-SNP	.											.	DOCK6	104	.	0			c.G4284A						PASS	.						42	44	43					19																	11325005		1986	4158	6144	SO:0001819	synonymous_variant	57572	exon34			GGCACTCTGGGCA		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4284G>A	19.37:g.11325005C>T		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	60	19	0.316667	NM_020812	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	CCDS45975.1																																																																																			.	.	none		0.582	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		T	11325005	C	T	11325005	2	4	35	1	0	0	0	0	0	0	0	1	4691	912	32	2		2	DOCK6	19	11325005	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	190775	11325005	47803978	347	23574										
ZNF490	57474	hgsc.bcm.edu	37	chr19	12692409	12692409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcatgaagacttccccacaCacactgcagtcacatggttt	7	13	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:12692409C>T	ENST00000311437.6	-	5	602	c.480G>A	c.(478-480)gtG>gtA	p.V160V	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V160V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCCCACACACACTGCAGT	0.433																																					p.V160V		Atlas-SNP	.											ZNF490,NS,carcinoma,0,1	ZNF490	42	1	1	Substitution - coding silent(1)	lung(1)	c.G480A						PASS	.						195	169	178					19																	12692409		2203	4300	6503	SO:0001819	synonymous_variant	57474	exon5			CCCACACACACTG	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.480G>A	19.37:g.12692409C>T		Somatic	340	0	0		WXS	Illumina HiSeq	Phase_I	288	74	0.256944	NM_020714		Silent	SNP	ENST00000311437.6	37	CCDS12272.1																																																																																			.	.	none		0.433	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		T	12692409	C	T	12692409	2	4	35	1	0	0	0	0	0	0	0	1	17938	465	17	2		2	ZNF490	19	12692409	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1367404	12692409	46436574	348	23575										
BRD4	23476	hgsc.bcm.edu	37	chr19	15366921	15366921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttcttcgtctttttaggagGaggttccttggctttgcttt	10	7	2	0	rs201937726		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:15366921G>A	ENST00000263377.2	-	9	1926	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	BRD4_ENST00000371835.4_Missense_Mutation_p.P569S|BRD4_ENST00000360016.5_Missense_Mutation_p.P569S|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	569	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tttttaggaggaggttccttg	0.428			T	C15orf55	lethal midline carcinoma of young people																																p.P569S		Atlas-SNP	.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	BRD4_ENST00000263377,NS,carcinoma,+2,2	BRD4	172	2	0			c.C1705T						PASS	.						288	255	266					19																	15366921		2203	4300	6503	SO:0001583	missense	23476	exon9			TAGGAGGAGGTTC	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1705C>T	19.37:g.15366921G>A	ENSP00000263377:p.Pro569Ser	Somatic	648	0	0		WXS	Illumina HiSeq	Phase_I	541	133	0.245841	NM_058243	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375762	0.42105	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.10477	2.87;4.39;4.39	5.05	3.98	0.46160	.	0.202174	0.35320	N	0.003284	T	0.13756	0.0333	M	0.75615	2.305	0.35607	D	0.808345	B;B;B	0.34103	0.437;0.16;0.267	B;B;B	0.30401	0.115;0.06;0.055	T	0.15321	-1.0441	10	0.16896	T	0.51	-8.0525	14.2679	0.66133	0.0:0.1503:0.8497:0.0	.	569;569;569	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	569	ENSP00000263377:P569S;ENSP00000360901:P569S;ENSP00000353112:P569S	ENSP00000263377:P569S	P	-	1	0	BRD4	15227921	1.000000	0.71417	0.984000	0.44739	0.813000	0.45954	6.325000	0.72901	1.088000	0.41272	0.561000	0.74099	CCT	.	.	weak		0.428	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15366921	G	A	15366921	3	1	35	1	0	0	0	0	1	0	0	0	1504	1174	41	2	2446	2	BRD4	19	15366921	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2674512	15366921	43762062	349	23576										
IL12RB1	3594	hgsc.bcm.edu	37	chr19	18174694	18174694	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccctccactcaccgatgctgAagcgctggggctggctccag	12	16	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:18174694A>T	ENST00000600835.2	-	14	1908	c.1610T>A	c.(1609-1611)tTc>tAc	p.F537Y	IL12RB1_ENST00000593993.2_Missense_Mutation_p.F537Y			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	537	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACCGATGCTGAAGCGCTGGGG	0.612																																					p.F537Y		Atlas-SNP	.											.	IL12RB1	92	.	0			c.T1610A						PASS	.						28	32	31					19																	18174694		2091	4228	6319	SO:0001583	missense	3594	exon13			ATGCTGAAGCGCT	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1610T>A	19.37:g.18174694A>T	ENSP00000470788:p.Phe537Tyr	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	12	0.27907	NM_005535	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291175	0.59976	.	.	ENSG00000096996	ENST00000430026	T	0.55930	0.49	3.21	3.21	0.36854	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000093	T	0.63977	0.2557	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.989	T	0.66027	-0.6025	10	0.07325	T	0.83	-29.046	8.1692	0.31245	1.0:0.0:0.0:0.0	.	537;537	P42701-2;P42701	.;I12R1_HUMAN	Y	537	ENSP00000403103:F537Y	ENSP00000403103:F537Y	F	-	2	0	IL12RB1	18035694	0.927000	0.31430	0.630000	0.29268	0.790000	0.44656	3.390000	0.52523	1.697000	0.51169	0.402000	0.26972	TTC	.	.	none		0.612	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			T	18174694	A	T	18174694	3	4	35	1	0	0	0	0	1	0	0	0	7626	246	9	5	398	5	IL12RB1	19	18174694	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	2807773	18174694	40954289	350	23577										
UPF1	5976	hgsc.bcm.edu	37	chr19	18965440	18965440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgagatcgccattgagctgcGgagcagcgtgggtgcacctg	16	10	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:18965440G>A	ENST00000599848.1	+	9	1429	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	UPF1_ENST00000262803.5_Missense_Mutation_p.R396Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	407	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATTGAGCTGCGGAGCAGCGTG	0.537																																					p.R396Q		Atlas-SNP	.											.	UPF1	88	.	0			c.G1187A						PASS	.						197	195	196					19																	18965440		2203	4300	6503	SO:0001583	missense	5976	exon9			AGCTGCGGAGCAG	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1220G>A	19.37:g.18965440G>A	ENSP00000470142:p.Arg407Gln	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	82	23	0.280488	NM_002911	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	19.55	3.847933	0.71603	.	.	ENSG00000005007	ENST00000262803	D	0.90197	-2.63	5.02	3.98	0.46160	.	0.052869	0.64402	D	0.000001	D	0.86838	0.6029	L	0.49126	1.545	0.80722	D	1	B;B	0.27229	0.108;0.172	B;B	0.16722	0.011;0.016	D	0.84750	0.0756	10	0.72032	D	0.01	-42.4753	12.6337	0.56671	0.0813:0.0:0.9187:0.0	.	407;396	Q92900;Q92900-2	RENT1_HUMAN;.	Q	396	ENSP00000262803:R396Q	ENSP00000262803:R396Q	R	+	2	0	UPF1	18826440	1.000000	0.71417	0.959000	0.39883	0.846000	0.48090	9.429000	0.97481	1.117000	0.41842	0.655000	0.94253	CGG	.	.	none		0.537	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		A	18965440	G	A	18965440	3	1	35	1	0	0	0	0	1	0	0	0	17000	1116	39	1	1221	1	UPF1	19	18965440	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	790746	18965440	40163543	351	23578										
ZNF708	7562	hgsc.bcm.edu	37	chr19	21477477	21477477	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccatatcttctcagtatcacTtgttggaaagaattttttat	5	7	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:21477477T>G	ENST00000356929.3	-	4	488	c.291A>C	c.(289-291)caA>caC	p.Q97H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCAGTATCACTTGTTGGAAAG	0.353																																					p.Q97H		Atlas-SNP	.											.	ZNF708	66	.	0			c.A291C						PASS	.						80	80	80					19																	21477477		2203	4299	6502	SO:0001583	missense	7562	exon4			TATCACTTGTTGG	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.291A>C	19.37:g.21477477T>G	ENSP00000349401:p.Gln97His	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	182	42	0.230769	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	5.752	0.323255	0.10900	.	.	ENSG00000182141	ENST00000356929	T	0.06528	3.29	0.449	-0.676	0.11361	.	.	.	.	.	T	0.09113	0.0225	L	0.43152	1.355	0.09310	N	1	B	0.27351	0.176	B	0.42738	0.396	T	0.48399	-0.9039	8	0.54805	T	0.06	.	.	.	.	.	97	P17019	ZN708_HUMAN	H	97	ENSP00000349401:Q97H	ENSP00000349401:Q97H	Q	-	3	2	ZNF708	21269317	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.386000	0.07370	-0.428000	0.07339	-0.436000	0.05848	CAA	.	.	none		0.353	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		G	21477477	T	G	21477477	3	3	35	1	0	0	0	0	1	0	0	0	18109	1606	56	5	1404	5	ZNF708	19	21477477	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2512037	21477477	37651506	352	23579										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22155873	22155873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tccagcatgaattgccttatGtgtagtaagggttgagacct	11	7	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:22155873G>T	ENST00000397126.4	-	4	2111	c.1963C>A	c.(1963-1965)Cat>Aat	p.H655N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	655					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTGCCTTATGTGTAGTAAGG	0.383																																					p.H655N		Atlas-SNP	.											.	ZNF208	817	.	0			c.C1963A						PASS	.						84	90	88					19																	22155873		2099	4256	6355	SO:0001583	missense	7757	exon4			CCTTATGTGTAGT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1963C>A	19.37:g.22155873G>T	ENSP00000380315:p.His655Asn	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	120	29	0.241667	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	9.493	1.101239	0.20632	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86865	-2.18	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92299	0.7557	.	.	.	0.24812	N	0.992636	D	0.89917	1.0	D	0.91635	0.999	D	0.83937	0.0309	8	0.87932	D	0	.	11.6277	0.51156	0.0:0.0:1.0:0.0	.	555	O43345	ZN208_HUMAN	N	655;555	ENSP00000380315:H655N	ENSP00000380315:H655N	H	-	1	0	ZNF208	21947713	0.987000	0.35691	0.002000	0.10522	0.002000	0.02628	3.980000	0.56895	0.923000	0.37045	0.289000	0.19496	CAT	.	.	none		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155873	G	T	22155873	3	4	35	1	0	0	0	0	1	0	0	0	17763	1377	48	4	1883	4	ZNF208	19	22155873	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	678396	22155873	36973110	353	23580										
ZNF257	113835	hgsc.bcm.edu	37	chr19	22271296	22271296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcacaccttactcaacataaGgtaattcatactagagagaa	5	9	3	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:22271296G>A	ENST00000594947.1	+	4	888	c.744G>A	c.(742-744)aaG>aaA	p.K248K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCAACATAAGGTAATTCATA	0.388																																					p.K248K		Atlas-SNP	.											.	ZNF257	156	.	0			c.G744A						PASS	.						37	40	39					19																	22271296		2124	4259	6383	SO:0001819	synonymous_variant	113835	exon4			ACATAAGGTAATT	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.744G>A	19.37:g.22271296G>A		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	197	52	0.263959	NM_033468	B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	CCDS46030.1																																																																																			.	.	none		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22271296	G	A	22271296	2	1	35	1	0	0	0	0	0	0	0	1	17797	991	35	2		2	ZNF257	19	22271296	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	115423	22271296	36857687	354	23581										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgctgccaccactgttgccaCtgctgccaccactgctgccg					rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000472252.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																					p.274_290del		Atlas-Indel	.											.	DMKN	116	.	1	Deletion - In frame(1)	ovary(1)	c.820_870del						PASS	.		,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				SO:0001651	inframe_deletion	93099	exon5			.	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	38	13	0.342105	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	none		0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		-	36002412	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	36002362	7	5	35	1	0	1	0	1	0	0	0	0	4582	565	20	0	926	0	DMKN	19	36002362	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	TCGA-GS-A9TZ-01A-11D-A38X-10	13731066	36002362	23126621	355	23582										
PAK4	10298	hgsc.bcm.edu	37	chr19	39660292	39660292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cagcacgagcagaagttcacGgggctgccccgccagtggca	14	14	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:39660292G>A	ENST00000593690.1	+	4	526	c.99G>A	c.(97-99)acG>acA	p.T33T	PAK4_ENST00000321944.4_Silent_p.T33T|PAK4_ENST00000358301.3_Silent_p.T33T|PAK4_ENST00000360442.3_Silent_p.T33T|PAK4_ENST00000435673.2_Silent_p.T33T|PAK4_ENST00000599386.1_Silent_p.T33T|PAK4_ENST00000599470.1_Silent_p.T33T	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	33	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGAAGTTCACGGGGCTGCCCC	0.682																																					p.T33T		Atlas-SNP	.											.	PAK4	40	.	0			c.G99A						PASS	.						37	40	39					19																	39660292		2202	4300	6502	SO:0001819	synonymous_variant	10298	exon2			GTTCACGGGGCTG	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.99G>A	19.37:g.39660292G>A		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	73	18	0.246575	NM_001014832	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	CCDS12528.1																																																																																			.	.	none		0.682	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39660292	G	A	39660292	2	1	35	1	0	0	0	0	0	0	0	1	11403	1103	39	1		1	PAK4	19	39660292	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3657930	39660292	19468691	356	23583										
DYRK1B	9149	hgsc.bcm.edu	37	chr19	40317311	40317311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttgggcacctgggcacccaCcagaactggagatggagctg	14	11	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:40317311C>T	ENST00000593685.1	-	9	1880		c.e9+1		DYRK1B_ENST00000597639.1_Splice_Site|DYRK1B_ENST00000430012.2_Splice_Site|DYRK1B_ENST00000323039.5_Splice_Site|DYRK1B_ENST00000348817.3_Splice_Site			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B						adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGGCACCCACCAGAACTGGA	0.672																																					.		Atlas-SNP	.											.	DYRK1B	114	.	0			c.1291+1G>A						PASS	.						12	9	10					19																	40317311		2001	3978	5979	SO:0001630	splice_region_variant	9149	exon10			CACCCACCAGAAC	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1411+1G>A	19.37:g.40317311C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	74	20	0.27027	NM_006483	O75258|O75788|O75789	Splice_Site	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742056	0.69418	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9869	0.71356	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYRK1B	45009151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.413000	0.80104	2.096000	0.63516	0.563000	0.77884	.	.	.	none		0.672	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	Intron	T	40317311	C	T	40317311	5	4	35	1	0	0	0	0	0	0	1	0	4855	521	18	2	489	2	DYRK1B	19	40317311	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	657019	40317311	18811672	357	23584										
CD79A	973	hgsc.bcm.edu	37	chr19	42381447	42381447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcttcctgctgtctgctgtcTacctgggtatgtggccaaag	11	11	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:42381447T>A	ENST00000221972.3	+	1	258	c.73T>A	c.(73-75)Tac>Aac	p.Y25N	CD79A_ENST00000444740.2_Missense_Mutation_p.Y25N	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	25					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCTGCTGTCTACCTGGGTAT	0.612			"O, S"		DLBCL																																p.Y25N		Atlas-SNP	.		Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	.	CD79A	25	.	0			c.T73A						PASS	.						145	109	121					19																	42381447		2203	4300	6503	SO:0001583	missense	973	exon1			GCTGTCTACCTGG	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.73T>A	19.37:g.42381447T>A	ENSP00000221972:p.Tyr25Asn	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	87	19	0.218391	NM_021601	A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	T	5.787	0.329487	0.10956	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.76186	-1.0	3.61	-1.13	0.09775	.	0.545236	0.15449	N	0.261790	T	0.45875	0.1364	N	0.08118	0	0.09310	N	1	B;B	0.27068	0.003;0.167	B;B	0.20767	0.002;0.031	T	0.27157	-1.0082	10	0.27785	T	0.31	-1.8651	5.5865	0.17277	0.1758:0.0:0.596:0.2282	.	25;25	P11912;A0N775	CD79A_HUMAN;.	N	25	ENSP00000221972:Y25N	ENSP00000221972:Y25N	Y	+	1	0	CD79A	47073287	0.002000	0.14202	0.008000	0.14137	0.816000	0.46133	0.755000	0.26405	-0.168000	0.10853	0.449000	0.29647	TAC	.	.	none		0.612	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			A	42381447	T	A	42381447	3	1	35	1	0	0	0	0	1	0	0	0	3036	1522	53	5	75	5	CD79A	19	42381447	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	2064136	42381447	16747536	358	23585										
ZNF234	10780	hgsc.bcm.edu	37	chr19	44661323	44661323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	taagggtttcatttacagttCaagttttcaggcccatcagg	9	8	4	0	rs191045580		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:44661323C>T	ENST00000426739.2	+	6	1412	c.1154C>T	c.(1153-1155)tCa>tTa	p.S385L	ZNF234_ENST00000592437.1_Missense_Mutation_p.S385L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	385					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTTACAGTTCAAGTTTTCAG	0.428																																					p.S385L		Atlas-SNP	.											.	ZNF234	132	.	0			c.C1154T						PASS	.						59	62	61					19																	44661323		2149	4280	6429	SO:0001583	missense	10780	exon6			ACAGTTCAAGTTT	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1154C>T	19.37:g.44661323C>T	ENSP00000400878:p.Ser385Leu	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	119	27	0.226891	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990174	0.54041	.	.	ENSG00000167380	ENST00000426739	T	0.36520	1.25	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55417	0.1919	M	0.62088	1.915	0.09310	N	1	D	0.63880	0.993	D	0.72338	0.977	T	0.41945	-0.9480	9	0.72032	D	0.01	.	11.8477	0.52393	0.0:0.8215:0.1785:0.0	.	385	Q14588	ZN234_HUMAN	L	385	ENSP00000400878:S385L	ENSP00000400878:S385L	S	+	2	0	ZNF226	49353163	0.000000	0.05858	0.125000	0.21846	0.988000	0.76386	0.053000	0.14184	2.175000	0.68902	0.591000	0.81541	TCA	C|0.999;A|0.001	.	alt		0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44661323	C	T	44661323	3	4	35	1	0	0	0	0	1	0	0	0	17784	838	29	2	1168	2	ZNF234	19	44661323	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	2279876	44661323	14467660	359	23586										
ZNF234	10780	hgsc.bcm.edu	37	chr19	44661732	44661732	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gaggagtgtgggaaggtcttCagtcaggcctcgcatcttct	14	9	5	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:44661732C>T	ENST00000426739.2	+	6	1821	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ZNF234_ENST00000592437.1_Silent_p.F521F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	521					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAAGGTCTTCAGTCAGGCCT	0.463																																					p.F521F		Atlas-SNP	.											.	ZNF234	132	.	0			c.C1563T						PASS	.						84	90	88					19																	44661732		2181	4285	6466	SO:0001819	synonymous_variant	10780	exon6			GGTCTTCAGTCAG	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1563C>T	19.37:g.44661732C>T		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	95	22	0.231579	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	CCDS46101.1																																																																																			.	.	none		0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44661732	C	T	44661732	2	4	35	1	0	0	0	0	0	0	0	1	17784	825	29	2		2	ZNF234	19	44661732	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	409	44661732	14467251	360	23587										
SHANK1	50944	hgsc.bcm.edu	37	chr19	51169477	51169477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgcagggaggaggtcctctCggggacatagctggctcccc	15	13	1	0	rs549051295		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:51169477C>T	ENST00000293441.1	-	22	5758	c.5740G>A	c.(5740-5742)Gag>Aag	p.E1914K	SHANK1_ENST00000391813.1_Missense_Mutation_p.E1301K|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1905K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1922K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1914					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGTCCTCTCGGGGACATAG	0.687																																					p.E1914K		Atlas-SNP	.											SHANK1,caecum,carcinoma,0,1	SHANK1	210	1	0			c.G5740A						scavenged	.						14	12	13					19																	51169477		2197	4289	6486	SO:0001583	missense	50944	exon22			TCCTCTCGGGGAC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5740G>A	19.37:g.51169477C>T	ENSP00000293441:p.Glu1914Lys	Somatic	66	1	0.0151515		WXS	Illumina HiSeq	Phase_I	49	14	0.285714	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	9.758	1.169414	0.21621	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39229	1.21;1.67;1.2;1.09	2.46	2.46	0.29980	.	0.963048	0.08427	U	0.947541	T	0.38746	0.1052	L	0.46157	1.445	0.35068	D	0.762213	D;D	0.67145	0.993;0.996	B;P	0.48030	0.361;0.564	T	0.42310	-0.9459	10	0.07175	T	0.84	.	10.6653	0.45726	0.0:1.0:0.0:0.0	.	1914;1301	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	K	1914;1301;1905;1922	ENSP00000293441:E1914K;ENSP00000375689:E1301K;ENSP00000351984:E1905K;ENSP00000375690:E1922K	ENSP00000293441:E1914K	E	-	1	0	SHANK1	55861289	0.997000	0.39634	0.872000	0.34217	0.521000	0.34408	4.778000	0.62368	1.682000	0.51000	0.195000	0.17529	GAG	.	.	none		0.687	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		T	51169477	C	T	51169477	3	4	35	1	0	0	0	0	1	0	0	0	14264	893	31	1	753	1	SHANK1	19	51169477	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6507745	51169477	7959506	361	23588										
ZNF649	65251	hgsc.bcm.edu	37	chr19	52394595	52394595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggaaggctttcccacattcaCtgcacccgtatggtttctct	8	13	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:52394595C>G	ENST00000354957.3	-	5	1078	c.794G>C	c.(793-795)aGt>aCt	p.S265T	ZNF649_ENST00000600738.1_Missense_Mutation_p.S237T|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCCACATTCACTGCACCCGTA	0.502																																					p.S265T		Atlas-SNP	.											.	ZNF649	72	.	0			c.G794C						PASS	.						116	117	116					19																	52394595		2203	4300	6503	SO:0001583	missense	65251	exon5			CATTCACTGCACC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.794G>C	19.37:g.52394595C>G	ENSP00000347043:p.Ser265Thr	Somatic	316	0	0		WXS	Illumina HiSeq	Phase_I	273	76	0.278388	NM_023074	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	2.723	-0.266213	0.05754	.	.	ENSG00000198093	ENST00000354957	T	0.07567	3.18	2.25	-4.49	0.03504	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.20845	0.615	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42515	-0.9447	9	0.33141	T	0.24	.	1.7035	0.02877	0.2242:0.4224:0.1926:0.1609	.	265	Q9BS31	ZN649_HUMAN	T	265	ENSP00000347043:S265T	ENSP00000347043:S265T	S	-	2	0	ZNF649	57086407	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-12.841000	0.00001	-0.804000	0.04410	-0.714000	0.03626	AGT	.	.	none		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		G	52394595	C	G	52394595	3	3	35	1	0	0	0	0	1	0	0	0	18061	565	20	4	727	4	ZNF649	19	52394595	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	1225118	52394595	6734388	362	23589										
ZNF615	284370	hgsc.bcm.edu	37	chr19	52497677	52497677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctctgatgatcaataaactGagacaacttgaggaaggctt	9	7	2	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:52497677G>C	ENST00000602063.1	-	6	1001	c.652C>G	c.(652-654)Cag>Gag	p.Q218E	ZNF615_ENST00000391795.3_Missense_Mutation_p.Q223E|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q229E|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q218E|ZNF615_ENST00000598071.1_Missense_Mutation_p.Q229E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCAATAAACTGAGACAACTTG	0.408																																					p.Q229E		Atlas-SNP	.											.	ZNF615	111	.	0			c.C685G						PASS	.						190	183	185					19																	52497677		2203	4300	6503	SO:0001583	missense	284370	exon7			TAAACTGAGACAA	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.652C>G	19.37:g.52497677G>C	ENSP00000473089:p.Gln218Glu	Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	252	66	0.261905	NM_001199324	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.511184	0.00984	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.27720	1.65;1.65	3.2	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14442	0.0349	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27732	0.118;0.187;0.187;0.118	B;B;B;B	0.24155	0.023;0.051;0.051;0.023	T	0.32824	-0.9892	9	0.08599	T	0.76	.	4.8415	0.13492	0.5616:0.1784:0.26:0.0	.	223;225;229;218	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	218;228;223;228	ENSP00000365906:Q218E;ENSP00000375672:Q223E	ENSP00000347019:Q228E	Q	-	1	0	ZNF615	57189489	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.995000	0.01472	-0.067000	0.12976	0.655000	0.94253	CAG	.	.	none		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		C	52497677	G	C	52497677	3	2	35	1	0	0	0	0	1	0	0	0	18037	1299	45	4	1547	4	ZNF615	19	52497677	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	103082	52497677	6631306	363	23590										
ZNF616	90317	hgsc.bcm.edu	37	chr19	52618943	52618943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acattcattgcatttgtaagGtttctctccagtatgaattc	6	8	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:52618943G>A	ENST00000600228.1	-	4	1735	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CATTTGTAAGGTTTCTCTCCA	0.408																																					p.P492S		Atlas-SNP	.											.	ZNF616	109	.	0			c.C1474T						PASS	.						106	99	102					19																	52618943		2203	4300	6503	SO:0001583	missense	90317	exon4			TGTAAGGTTTCTC	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1474C>T	19.37:g.52618943G>A	ENSP00000471000:p.Pro492Ser	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	128	38	0.296875	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120924	0.56613	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-0.00954	0.14000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49304	0.1549	L	0.59912	1.85	0.20196	N	0.999921	D	0.65815	0.995	P	0.59357	0.856	T	0.35076	-0.9803	8	0.59425	D	0.04	.	5.0165	0.14339	0.2201:0.0:0.7799:0.0	.	492	Q08AN1	ZN616_HUMAN	S	492	.	ENSP00000328722:P492S	P	-	1	0	ZNF616	57310755	0.995000	0.38212	0.008000	0.14137	0.900000	0.52787	3.357000	0.52277	0.031000	0.15407	0.305000	0.20034	CCT	.	.	none		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		A	52618943	G	A	52618943	3	1	35	1	0	0	0	0	1	0	0	0	18038	1261	44	2	875	2	ZNF616	19	52618943	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	121266	52618943	6510040	364	23591										
ZNF836	162962	hgsc.bcm.edu	37	chr19	52659320	52659320	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ttaaatgtcttacaaggcatGaattttcactaaagaccttt	5	7	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:52659320G>A	ENST00000322146.8	-	5	2137	c.1616C>T	c.(1615-1617)tCa>tTa	p.S539L	ZNF836_ENST00000597252.1_Missense_Mutation_p.S539L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	539					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(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACAAGGCATGAATTTTCACT	0.383																																					p.S539L		Atlas-SNP	.											.	ZNF836	158	.	0			c.C1616T						PASS	.						116	127	123					19																	52659320		2080	4245	6325	SO:0001583	missense	162962	exon5			AGGCATGAATTTT	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1616C>T	19.37:g.52659320G>A	ENSP00000325038:p.Ser539Leu	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	164	55	0.335366	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270902	0.40194	.	.	ENSG00000196267	ENST00000322146	T	0.07444	3.19	2.09	-0.172	0.13327	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17152	0.0412	L	0.54863	1.705	0.09310	N	1	D	0.63880	0.993	D	0.72338	0.977	T	0.14337	-1.0476	9	0.66056	D	0.02	.	2.8352	0.05512	0.4341:0.2455:0.3204:0.0	.	539	Q6ZNA1	ZN836_HUMAN	L	539	ENSP00000325038:S539L	ENSP00000325038:S539L	S	-	2	0	ZNF836	57351132	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.484000	0.06528	0.207000	0.20607	0.484000	0.47621	TCA	.	.	none		0.383	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		A	52659320	G	A	52659320	3	1	35	1	0	0	0	0	1	0	0	0	18184	1294	45	2	1196	2	ZNF836	19	52659320	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	40377	52659320	6469663	365	23592										
NCR1	9437	hgsc.bcm.edu	37	chr19	55423582	55423582	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	accacagagacgggactccaGaaaggtaagtagacagctgg	13	9	0	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:55423582G>A	ENST00000291890.4	+	6	767	c.729G>A	c.(727-729)caG>caA	p.Q243Q	NCR1_ENST00000357397.5_Silent_p.Q136Q|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Silent_p.Q148Q|NCR1_ENST00000447255.1_Silent_p.Q242Q|NCR1_ENST00000594765.1_Silent_p.Q242Q|NCR1_ENST00000598576.1_Silent_p.Q230Q	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	243					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CGGGACTCCAGAAAGGTAAGT	0.512																																					p.Q243Q		Atlas-SNP	.											.	NCR1	60	.	0			c.G729A						PASS	.						118	110	113					19																	55423582		2203	4300	6503	SO:0001819	synonymous_variant	9437	exon6			ACTCCAGAAAGGT	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.729G>A	19.37:g.55423582G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	84	34	0.404762	NM_004829	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	CCDS12911.1																																																																																			.	.	none		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			A	55423582	G	A	55423582	2	1	35	1	0	0	0	0	0	0	0	1	10237	933	33	2		2	NCR1	19	55423582	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2764262	55423582	3705401	366	23593										
ZIM3	114026	hgsc.bcm.edu	37	chr19	57646662	57646662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctcatgatcgatgacattgGatttctgggaaaaggccttc	10	8	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:57646662G>C	ENST00000269834.1	-	5	1428	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATGACATTGGATTTCTGGGA	0.388																																					p.S348C		Atlas-SNP	.											.	ZIM3	107	.	0			c.C1043G						PASS	.						168	164	165					19																	57646662		2203	4300	6503	SO:0001583	missense	114026	exon5			ACATTGGATTTCT	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1043C>G	19.37:g.57646662G>C	ENSP00000269834:p.Ser348Cys	Somatic	322	0	0		WXS	Illumina HiSeq	Phase_I	285	79	0.277193	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	9.453	1.090990	0.20471	.	.	ENSG00000141946	ENST00000269834	T	0.08008	3.14	2.29	2.29	0.28610	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25158	0.0611	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02144	-1.1206	9	0.87932	D	0	.	10.2276	0.43236	0.0:0.0:1.0:0.0	.	348	Q96PE6	ZIM3_HUMAN	C	348	ENSP00000269834:S348C	ENSP00000269834:S348C	S	-	2	0	ZIM3	62338474	0.000000	0.05858	0.774000	0.31636	0.297000	0.27493	-1.288000	0.02783	1.266000	0.44231	0.313000	0.20887	TCC	.	.	none		0.388	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			C	57646662	G	C	57646662	3	2	35	1	0	0	0	0	1	0	0	0	17682	1174	41	4	379	4	ZIM3	19	57646662	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	2223080	57646662	1482321	367	23594										
VN1R1	57191	hgsc.bcm.edu	37	chr19	57967400	57967400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ccatccacctgcatatactgGggttgagcttaatggcttgg	11	10	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr19:57967400G>T	ENST00000321039.3	-	1	454	c.455C>A	c.(454-456)cCc>cAc	p.P152H	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	152					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCATATACTGGGGTTGAGCTT	0.463																																					p.P152H		Atlas-SNP	.											.	VN1R1	48	.	0			c.C455A						PASS	.						99	91	94					19																	57967400		2203	4300	6503	SO:0001583	missense	57191	exon1			ATACTGGGGTTGA	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.455C>A	19.37:g.57967400G>T	ENSP00000322339:p.Pro152His	Somatic	214	0	0		WXS	Illumina HiSeq	Phase_I	171	43	0.251462	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602874	0.46423	.	.	ENSG00000178201	ENST00000321039	T	0.10763	2.84	4.24	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39937	0.1097	H	0.94503	3.545	0.09310	N	1	D	0.55172	0.97	D	0.64042	0.921	T	0.28138	-1.0053	9	0.66056	D	0.02	.	10.4287	0.44393	0.0977:0.0:0.9023:0.0	.	152	Q9GZP7	VN1R1_HUMAN	H	152	ENSP00000322339:P152H	ENSP00000322339:P152H	P	-	2	0	VN1R1	62659212	0.904000	0.30761	0.002000	0.10522	0.008000	0.06430	1.682000	0.37628	1.140000	0.42260	0.644000	0.83932	CCC	.	.	none		0.463	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		T	57967400	G	T	57967400	3	4	35	1	0	0	0	0	1	0	0	0	17175	1232	43	4	610	4	VN1R1	19	57967400	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	320738	57967400	1161583	368	23595										
CSNK2A1	1457	hgsc.bcm.edu	37	chr20	472918	472918	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctgatagtctacaagtagctCaggacctttgaagtatcggg	11	8	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:472918C>T	ENST00000217244.3	-	9	976	c.601G>A	c.(601-603)Gag>Aag	p.E201K	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.E65K|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.E201K|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.E201K	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACAAGTAGCTCAGGACCTTTG	0.388																																					p.E201K		Atlas-SNP	.											.	CSNK2A1	36	.	0			c.G601A						PASS	.						88	81	83					20																	472918		2203	4300	6503	SO:0001583	missense	1457	exon8			GTAGCTCAGGACC	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.601G>A	20.37:g.472918C>T	ENSP00000217244:p.Glu201Lys	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	59	13	0.220339	NM_001895	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500490	0.96355	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.71103	1.52;1.52;1.52;-0.54	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	H	0.98295	4.195	0.80722	D	1	P	0.48089	0.905	P	0.49085	0.6	D	0.91949	0.5569	10	0.87932	D	0	-5.5019	17.4514	0.87593	0.0:1.0:0.0:0.0	.	201	P68400	CSK21_HUMAN	K	201;201;201;201;65	ENSP00000383086:E201K;ENSP00000339247:E201K;ENSP00000217244:E201K;ENSP00000383076:E65K	ENSP00000217244:E201K	E	-	1	0	CSNK2A1	420918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	2.674000	0.91012	0.650000	0.86243	GAG	.	.	none		0.388	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		T	472918	C	T	472918	3	4	35	1	0	0	0	0	1	0	0	0	3957	835	29	2	598	2	CSNK2A1	20	472918	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10		472918	62552602	369	23596										
CSNK2A1	1457	hgsc.bcm.edu	37	chr20	485848	485848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttacctcggcctaattttcGaaccagctggtagtcatctt	7	11	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:485848G>A	ENST00000217244.3	-	4	502	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R43*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R43*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CCTAATTTTCGAACCAGCTGG	0.338																																					p.R43X		Atlas-SNP	.											.	CSNK2A1	36	.	0			c.C127T						PASS	.						79	66	70					20																	485848		2203	4299	6502	SO:0001587	stop_gained	1457	exon3			ATTTTCGAACCAG	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.127C>T	20.37:g.485848G>A	ENSP00000217244:p.Arg43*	Somatic	567	1	0.00176367		WXS	Illumina HiSeq	Phase_I	421	105	0.249406	NM_001895	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	37	6.022125	0.97211	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	4.56	1.35	0.21983	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2591	13.1247	0.59346	0.0:0.0:0.4164:0.5836	.	.	.	.	X	43	.	ENSP00000217244:R43X	R	-	1	2	CSNK2A1	433848	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.156000	0.31712	0.210000	0.20664	0.555000	0.69702	CGA	.	.	none		0.338	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		A	485848	G	A	485848	4	1	35	1	0	0	0	0	0	1	0	0	3957	1066	37	1	1092	1	CSNK2A1	20	485848	Nonsense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	12930	485848	62539672	370	23597										
HAO1	54363	hgsc.bcm.edu	37	chr20	7920952	7920952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cctggaaaatgctgcaatatTatcagccaaagtttcttcat	6	9	3	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:7920952T>G	ENST00000378789.3	-	1	169	c.118A>C	c.(118-120)Aat>Cat	p.N40H		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	40	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGCAATATTATCAGCCAAA	0.303																																					p.N40H		Atlas-SNP	.											.	HAO1	71	.	0			c.A118C						PASS	.						58	56	57					20																	7920952		2203	4300	6503	SO:0001583	missense	54363	exon1			CAATATTATCAGC	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.118A>C	20.37:g.7920952T>G	ENSP00000368066:p.Asn40His	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	87	14	0.16092	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412595	0.62511	.	.	ENSG00000101323	ENST00000378789	T	0.51574	0.7	5.16	5.16	0.70880	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.043429	0.85682	D	0.000000	T	0.79393	0.4438	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86768	0.1971	10	0.87932	D	0	0.3185	14.2604	0.66080	0.0:0.0:0.0:1.0	.	40;40	A8K058;Q9UJM8	.;HAOX1_HUMAN	H	40	ENSP00000368066:N40H	ENSP00000368066:N40H	N	-	1	0	HAO1	7868952	1.000000	0.71417	0.992000	0.48379	0.745000	0.42441	6.312000	0.72840	2.060000	0.61445	0.459000	0.35465	AAT	.	.	none		0.303	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			G	7920952	T	G	7920952	3	3	35	1	0	0	0	0	1	0	0	0	6951	1754	61	5	1026	5	HAO1	20	7920952	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	7435104	7920952	55104568	371	23598										
CSRP2BP	57325	hgsc.bcm.edu	37	chr20	18131484	18131484	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtcgtcatgttggcaatgtAcaacttgtctctggaaggaa	12	7	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:18131484A>T	ENST00000435364.3	+	3	739	c.398A>T	c.(397-399)tAc>tTc	p.Y133F	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.Y5F|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.Y133F	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	133					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTGGCAATGTACAACTTGTCT	0.413																																					p.Y133F		Atlas-SNP	.											.	CSRP2BP	80	.	0			c.A398T						PASS	.						264	246	252					20																	18131484		2203	4300	6503	SO:0001583	missense	57325	exon3			CAATGTACAACTT	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.398A>T	20.37:g.18131484A>T	ENSP00000392318:p.Tyr133Phe	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	186	54	0.290323	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737051	0.89482	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.36878	1.84;1.84;1.84;1.23	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.58510	1.815	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.70935	0.971;0.956	T	0.58962	-0.7543	10	0.66056	D	0.02	-6.9195	15.1792	0.72941	1.0:0.0:0.0:0.0	.	5;133	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	F	133;133;133;5	ENSP00000278816:Y133F;ENSP00000366909:Y133F;ENSP00000392318:Y133F;ENSP00000425909:Y5F	ENSP00000278816:Y133F	Y	+	2	0	CSRP2BP	18079484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.564000	0.90726	2.044000	0.60594	0.455000	0.32223	TAC	.	.	none		0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		T	18131484	A	T	18131484	3	4	35	1	0	0	0	0	1	0	0	0	3968	391	14	5	408	5	CSRP2BP	20	18131484	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	10210532	18131484	44894036	372	23599										
CSRP2BP	57325	hgsc.bcm.edu	37	chr20	18131517	18131517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggaaggaagtggacgtcaagGttatttcaggtggaaagaag	16	3	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:18131517G>C	ENST00000435364.3	+	3	772	c.431G>C	c.(430-432)gGt>gCt	p.G144A	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.G16A|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.G144A	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	144					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGACGTCAAGGTTATTTCAGG	0.378																																					p.G144A		Atlas-SNP	.											.	CSRP2BP	80	.	0			c.G431C						PASS	.						250	233	239					20																	18131517		2203	4300	6503	SO:0001583	missense	57325	exon3			GTCAAGGTTATTT	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.431G>C	20.37:g.18131517G>C	ENSP00000392318:p.Gly144Ala	Somatic	209	0	0		WXS	Illumina HiSeq	Phase_I	186	55	0.295699	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738635	0.89573	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.20069	2.38;2.37;2.38;2.1	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.995	T	0.38887	-0.9640	10	0.56958	D	0.05	-8.237	18.8794	0.92351	0.0:0.0:1.0:0.0	.	16;144	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	A	144;144;144;16	ENSP00000278816:G144A;ENSP00000366909:G144A;ENSP00000392318:G144A;ENSP00000425909:G16A	ENSP00000278816:G144A	G	+	2	0	CSRP2BP	18079517	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.052000	0.93855	2.527000	0.85204	0.557000	0.71058	GGT	.	.	none		0.378	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18131517	G	C	18131517	3	2	35	1	0	0	0	0	1	0	0	0	3968	1261	44	4	441	4	CSRP2BP	20	18131517	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	33	18131517	44894003	373	23600										
SEC23B	10483	hgsc.bcm.edu	37	chr20	18492908	18492908	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aaactttgggcctgtaatttCtgttttcaaagaaatcaggt	8	6	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:18492908C>T	ENST00000336714.3	+	3	693	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SEC23B_ENST00000377465.1_Silent_p.F87F|SEC23B_ENST00000377475.3_Silent_p.F87F|SEC23B_ENST00000262544.2_Silent_p.F87F|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	87					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCTGTAATTTCTGTTTTCAAA	0.229																																					p.F87F		Atlas-SNP	.											.	SEC23B	70	.	0			c.C261T						PASS	.						28	30	29					20																	18492908		2198	4287	6485	SO:0001819	synonymous_variant	10483	exon3			TAATTTCTGTTTT	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.261C>T	20.37:g.18492908C>T		Somatic	866	1	0.00115473		WXS	Illumina HiSeq	Phase_I	700	82	0.117143	NM_032985	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	CCDS13137.1																																																																																			.	.	none		0.229	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			T	18492908	C	T	18492908	2	4	35	1	0	0	0	0	0	0	0	1	13992	912	32	2		2	SEC23B	20	18492908	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	361391	18492908	44532612	374	23601										
RIN2	54453	hgsc.bcm.edu	37	chr20	19977369	19977369	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggagcactttctctgataaaGaatttccaagaagaacaagc	8	8	1	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:19977369G>T	ENST00000255006.6	+	11	2543	c.2394G>T	c.(2392-2394)aaG>aaT	p.K798N	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.K316N	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	749	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CTCTGATAAAGAATTTCCAAG	0.532																																					p.K798N		Atlas-SNP	.											.	RIN2	126	.	0			c.G2394T						PASS	.						72	77	75					20																	19977369		1969	4164	6133	SO:0001583	missense	54453	exon11			GATAAAGAATTTC	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2394G>T	20.37:g.19977369G>T	ENSP00000255006:p.Lys798Asn	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	118	34	0.288136	NM_001242581	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677559	0.88445	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.32515	1.45;1.45	5.69	5.69	0.88448	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.052451	0.85682	D	0.000000	T	0.60248	0.2254	M	0.80508	2.5	0.80722	D	1	P;D	0.89917	0.883;1.0	B;D	0.79784	0.444;0.993	T	0.60301	-0.7290	9	.	.	.	-35.8035	19.4007	0.94629	0.0:0.0:1.0:0.0	.	316;749	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	N	798;316	ENSP00000255006:K798N;ENSP00000391239:K316N	.	K	+	3	2	RIN2	19925369	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.072000	0.57563	2.682000	0.91365	0.655000	0.94253	AAG	.	.	none		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19977369	G	T	19977369	3	4	35	1	0	0	0	0	1	0	0	0	13372	933	33	4	2285	4	RIN2	20	19977369	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1484461	19977369	43048151	375	23602										
C20orf186	149954	hgsc.bcm.edu	37	chr20	31671452	31671452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtgggcaggcttcaccggcGagagctgcagcctggagaaa	16	10	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:31671452G>A	ENST00000375483.3	+	3	449	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	150	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTTCACCGGCGAGAGCTGCAG	0.642																																					p.R150Q		Atlas-SNP	.											C20orf186,NS,carcinoma,+1,1	.	.	1	0			c.G449A						scavenged	.						43	44	44					20																	31671452		2203	4300	6503	SO:0001583	missense	149954	exon3			ACCGGCGAGAGCT	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.449G>A	20.37:g.31671452G>A	ENSP00000364632:p.Arg150Gln	Somatic	138	2	0.0144928		WXS	Illumina HiSeq	Phase_I	100	27	0.27	NM_182519	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769766	0.31320	.	.	ENSG00000186191	ENST00000375483	T	0.01495	4.83	3.28	2.32	0.28847	.	0.230809	0.28883	N	0.013835	T	0.01661	0.0053	L	0.32530	0.975	0.18873	N	0.999989	B	0.21147	0.052	B	0.08055	0.003	T	0.44421	-0.9329	10	0.87932	D	0	-7.3415	6.7308	0.23383	0.1358:0.0:0.8642:0.0	.	150	P59827	BPIB4_HUMAN	Q	150	ENSP00000364632:R150Q	ENSP00000364632:R150Q	R	+	2	0	BPIFB4	31135113	0.088000	0.21588	0.762000	0.31397	0.036000	0.12997	1.645000	0.37238	0.715000	0.32103	-0.369000	0.07265	CGA	.	.	none		0.642	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		A	31671452	G	A	31671452	3	1	35	1	0	0	0	0	1	0	0	0	2098	1058	37	1	459	1	C20orf186	20	31671452	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	11694083	31671452	31354068	376	23603										
TGIF2	60436	hgsc.bcm.edu	37	chr20	35219312	35219312	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggtcttgtatattcattccaGatatgtaactggttcatcaa	7	7	4	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:35219312G>T	ENST00000373874.2	+	3	391		c.e3-1		TGIF2-C20orf24_ENST00000558530.1_Intron|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Splice_Site	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2						gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ATTCATTCCAGATATGTAACT	0.502																																					.		Atlas-SNP	.											.	TGIF2	26	.	0			c.193-1G>T						PASS	.						137	153	148					20																	35219312		2203	4300	6503	SO:0001630	splice_region_variant	60436	exon3			ATTCCAGATATGT	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.193-1G>T	20.37:g.35219312G>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	84	19	0.22619	NM_001199513	B2R9U3|E1P5T9|H0YNI0	Splice_Site	SNP	ENST00000373874.2	37	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736257	0.69189	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3415	0.60547	0.0756:0.0:0.9244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGIF2	34652726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.414000	0.97362	1.366000	0.46076	0.561000	0.74099	.	.	.	none		0.502	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809	Intron	T	35219312	G	T	35219312	5	4	35	1	0	0	0	0	0	0	1	0	15823	956	33	4	198	4	TGIF2	20	35219312	Splice_Site	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	3547860	35219312	27806208	377	23604										
NFATC2	4773	hgsc.bcm.edu	37	chr20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtgagtagtggatcacaggcGaggcctgctggttggtcgga	18	7	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:50048903G>A	ENST00000396009.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000371564.3_Missense_Mutation_p.S808L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647																																					p.S808L		Atlas-SNP	.											NFATC2,NS,carcinoma,0,2	NFATC2	112	2	2	Substitution - Missense(2)	lung(2)	c.C2423T						PASS	.						47	50	49					20																	50048903		2203	4300	6503	SO:0001583	missense	4773	exon9			ACAGGCGAGGCCT	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2423C>T	20.37:g.50048903G>A	ENSP00000379330:p.Ser808Leu	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	65	22	0.338462	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780159	0.49891	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18960	2.19;2.18;2.21	5.45	5.45	0.79879	.	0.135690	0.50627	D	0.000108	T	0.15003	0.0362	L	0.36672	1.1	0.48901	D	0.999727	P;P;D;P	0.54601	0.931;0.913;0.967;0.931	B;B;B;B	0.34489	0.081;0.17;0.173;0.184	T	0.12400	-1.0549	10	0.11794	T	0.64	-4.4372	19.296	0.94122	0.0:0.0:1.0:0.0	.	788;788;808;808	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	808;808;788	ENSP00000360619:S808L;ENSP00000379330:S808L;ENSP00000396471:S788L	ENSP00000360619:S808L	S	-	2	0	NFATC2	49482310	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	9.452000	0.97615	2.563000	0.86464	0.650000	0.86243	TCG	.	.	none		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		A	50048903	G	A	50048903	3	1	35	1	0	0	0	0	1	0	0	0	10362	1059	37	1	410	1	NFATC2	20	50048903	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	14829591	50048903	12976617	378	23605										
BMP7	655	hgsc.bcm.edu	37	chr20	55748291	55748291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggcgtggttggtggcgttcaTgtaggagttcagagggaagg	20	4	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:55748291T>C	ENST00000395863.3	-	6	1616	c.1111A>G	c.(1111-1113)Atg>Gtg	p.M371V	BMP7_ENST00000450594.2_Missense_Mutation_p.M371V|BMP7_ENST00000395864.3_Missense_Mutation_p.M305V|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	371					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTGGCGTTCATGTAGGAGTTC	0.632																																					p.M371V		Atlas-SNP	.											.	BMP7	60	.	0			c.A1111G						PASS	.						214	132	160					20																	55748291		2203	4300	6503	SO:0001583	missense	655	exon6			CGTTCATGTAGGA		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1111A>G	20.37:g.55748291T>C	ENSP00000379204:p.Met371Val	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	39	15	0.384615	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.7|24.7	4.564597|4.564597	0.86439|0.86439	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|D;D;D	.|0.88124	.|-2.34;-2.34;-2.34	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Transforming growth factor-beta, C-terminal (3);	.|0.034872	.|0.85682	.|D	.|0.000000	D|D	0.90338|0.90338	0.6977|0.6977	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.902;0.994;0.999	.|P;D;D	.|0.91635	.|0.795;0.913;0.999	D|D	0.91561|0.91561	0.5264|0.5264	5|10	.|0.87932	.|D	.|0	.|.	14.7165|14.7165	0.69272|0.69272	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|305;371;371	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	R|V	292|371;305;371	.|ENSP00000379204:M371V;ENSP00000379205:M305V;ENSP00000398687:M371V	.|ENSP00000379204:M371V	H|M	-|-	2|1	0|0	BMP7|BMP7	55181698|55181698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.930000|7.930000	0.87610|0.87610	1.946000|1.946000	0.56461|0.56461	0.482000|0.482000	0.46254|0.46254	CAT|ATG	.	.	none		0.632	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			C	55748291	T	C	55748291	3	2	35	1	0	0	0	0	1	0	0	0	1465	1464	51	2	192	2	BMP7	20	55748291	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	5699388	55748291	7277229	379	23606										
RAB22A	57403	hgsc.bcm.edu	37	chr20	56929269	56929269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctattcatgcaatttttgtAgagaccagcgcaaaaaacgc	7	9	2	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:56929269A>G	ENST00000244040.3	+	6	716	c.435A>G	c.(433-435)gtA>gtG	p.V145V		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	145					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CAATTTTTGTAGAGACCAGCG	0.393																																					p.V145V		Atlas-SNP	.											.	RAB22A	15	.	0			c.A435G						PASS	.						93	92	93					20																	56929269		2203	4300	6503	SO:0001819	synonymous_variant	57403	exon6			TTTTGTAGAGACC	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"RAB, member RAS oncogene"	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.435A>G	20.37:g.56929269A>G		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	73	14	0.191781	NM_020673	B3KR86|E1P605|Q8TF12|Q9H4E6	Silent	SNP	ENST00000244040.3	37	CCDS33497.1																																																																																			.	.	none		0.393	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			G	56929269	A	G	56929269	2	3	35	1	0	0	0	0	0	0	0	1	12909	407	15	3		3	RAB22A	20	56929269	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1180978	56929269	6096251	380	23607										
STX16	8675	hgsc.bcm.edu	37	chr20	57227077	57227077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgagacatggccaccaggcgTttaaccgacgctttcttgtt	10	11	1	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:57227077T>C	ENST00000371141.4	+	1	739	c.15T>C	c.(13-15)cgT>cgC	p.R5R	STX16-NPEPL1_ENST00000530122.1_Silent_p.R5R|STX16_ENST00000361770.5_Silent_p.R5R|STX16_ENST00000371132.4_Silent_p.R5R|STX16_ENST00000358029.4_Silent_p.R5R|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361830.3_Silent_p.R5R|STX16_ENST00000359617.4_Intron|STX16_ENST00000355957.5_Silent_p.R5R	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	5					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CCACCAGGCGTTTAACCGACG	0.542																																					p.R5R		Atlas-SNP	.											.	STX16	36	.	0			c.T15C						PASS	.						104	100	101					20																	57227077		2203	4300	6503	SO:0001819	synonymous_variant	8675	exon1			CAGGCGTTTAACC	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.15T>C	20.37:g.57227077T>C		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	42	10	0.238095	NM_001134772	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	CCDS13468.1																																																																																			.	.	none		0.542	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		C	57227077	T	C	57227077	2	2	35	1	0	0	0	0	0	0	0	1	15338	1712	60	2		2	STX16	20	57227077	Silent	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10	297808	57227077	5798443	381	23608										
OGFR	11054	hgsc.bcm.edu	37	chr20	61443664	61443664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agcacttccaggcgccgctgGtccgcttcttcctggaggag	13	14	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:61443664G>A	ENST00000290291.6	+	7	722	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	OGFR_ENST00000370461.1_Missense_Mutation_p.V181I	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	233					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGCGCCGCTGGTCCGCTTCTT	0.672																																					p.V233I		Atlas-SNP	.											.	OGFR	63	.	0			c.G697A						PASS	.						20	17	18					20																	61443664		2123	4194	6317	SO:0001583	missense	11054	exon7			CCGCTGGTCCGCT	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.697G>A	20.37:g.61443664G>A	ENSP00000290291:p.Val233Ile	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	73	22	0.30137	NM_007346	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272510	0.40194	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.53857	1.49;0.6;1.18	4.72	3.53	0.40419	Opioid growth factor receptor (OGFr) conserved domain (1);	0.250853	0.38778	N	0.001574	T	0.46946	0.1419	L	0.37750	1.13	0.28516	N	0.913283	P;B;B	0.42908	0.793;0.029;0.029	P;B;B	0.45449	0.481;0.037;0.037	T	0.41734	-0.9492	10	0.29301	T	0.29	-15.2161	13.7306	0.62785	0.0901:0.0:0.9099:0.0	.	233;216;233	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	I	233;233;233;88;181	ENSP00000290291:V233I;ENSP00000359499:V233I;ENSP00000359491:V181I	ENSP00000290291:V233I	V	+	1	0	OGFR	60914109	1.000000	0.71417	0.308000	0.25141	0.523000	0.34469	7.454000	0.80714	2.129000	0.65627	0.561000	0.74099	GTC	.	.	none		0.672	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			A	61443664	G	A	61443664	3	1	35	1	0	0	0	0	1	0	0	0	10843	1261	44	2	723	2	OGFR	20	61443664	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4216587	61443664	1581856	382	23609										
ZNF512B	57473	hgsc.bcm.edu	37	chr20	62597525	62597525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	actgttcctccctgtggcacGaggtgctttgttctccgacc	10	14	1	0	rs371234637		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr20:62597525G>A	ENST00000450537.1	-	5	1063	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	335					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGTGGCACGAGGTGCTTTG	0.582																																					p.R335C		Atlas-SNP	.											ZNF512B,NS,lymphoid_neoplasm,+1,1	ZNF512B	72	1	0			c.C1003T						PASS	.	G	CYS/ARG	2,4402	6.2+/-15.9	0,2,2200	76	72	73		1003	4.4	0.1	20		73	0,8600		0,0,4300	no	missense	ZNF512B	NM_020713.1	180	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	335/893	62597525	2,13002	2202	4300	6502	SO:0001583	missense	57473	exon5			TGGCACGAGGTGC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1003C>T	20.37:g.62597525G>A	ENSP00000393795:p.Arg335Cys	Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	133	25	0.18797	NM_020713	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551719	0.27739	4.54E-4	0.0	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26810	1.71;1.71;1.71	5.43	4.42	0.53409	.	0.669254	0.14337	N	0.325977	T	0.34832	0.0911	L	0.47716	1.5	0.09310	N	0.999999	D	0.76494	0.999	P	0.54924	0.764	T	0.11227	-1.0596	10	0.87932	D	0	-18.6947	10.2751	0.43506	0.0:0.0:0.6755:0.3245	.	335	Q96KM6	Z512B_HUMAN	C	335	ENSP00000358904:R335C;ENSP00000393795:R335C;ENSP00000217130:R335C	ENSP00000217130:R335C	R	-	1	0	ZNF512B	62067969	0.026000	0.19158	0.119000	0.21687	0.022000	0.10575	2.040000	0.41203	2.532000	0.85374	0.585000	0.79938	CGT	.	.	weak		0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62597525	G	A	62597525	3	1	35	1	0	0	0	0	1	0	0	0	17954	1058	37	1	1727	1	ZNF512B	20	62597525	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1153861	62597525	427995	383	23610										
NCAM2	4685	hgsc.bcm.edu	37	chr21	22710786	22710786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cactcgtatgtgatgcggaaGgggagcctattccagaaatc	12	9	0	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr21:22710786G>A	ENST00000400546.1	+	8	1225	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	NCAM2_ENST00000535285.1_Missense_Mutation_p.G351R|NCAM2_ENST00000284894.7_Missense_Mutation_p.G184R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	326	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGATGCGGAAGGGGAGCCTAT	0.388																																					p.G326R		Atlas-SNP	.											.	NCAM2	220	.	0			c.G976A						PASS	.						69	66	67					21																	22710786		1894	4116	6010	SO:0001583	missense	4685	exon8			GCGGAAGGGGAGC		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.976G>A	21.37:g.22710786G>A	ENSP00000383392:p.Gly326Arg	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	156	39	0.25	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852909	0.91355	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.79940	-1.32;-1.32;-1.32	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.046370	0.85682	D	0.000000	D	0.93835	0.8028	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95498	0.8575	10	0.87932	D	0	-16.7196	18.6141	0.91296	0.0:0.0:1.0:0.0	.	351;184;326	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	R	326;184;351	ENSP00000383392:G326R;ENSP00000284894:G184R;ENSP00000441887:G351R	ENSP00000284894:G184R	G	+	1	0	NCAM2	21632657	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.717000	0.74707	2.736000	0.93811	0.591000	0.81541	GGG	.	.	none		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		A	22710786	G	A	22710786	3	1	35	1	0	0	0	0	1	0	0	0	10203	1000	35	2	1006	2	NCAM2	21	22710786	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		22710786	25419109	384	23611										
SON	6651	hgsc.bcm.edu	37	chr21	34924682	34924682	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgtcagcctacgagcgctctAtgatgtcccctatggctgag	11	12	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr21:34924682A>C	ENST00000356577.4	+	3	3620	c.3145A>C	c.(3145-3147)Atg>Ctg	p.M1049L	SON_ENST00000290239.6_Missense_Mutation_p.M1049L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M1049L|SON_ENST00000300278.4_Missense_Mutation_p.M1049L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1049	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGAGCGCTCTATGATGTCCCC	0.502																																					p.M1049L		Atlas-SNP	.											.	SON	343	.	0			c.A3145C						PASS	.						103	96	99					21																	34924682		2203	4300	6503	SO:0001583	missense	6651	exon3			CGCTCTATGATGT	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3145A>C	21.37:g.34924682A>C	ENSP00000348984:p.Met1049Leu	Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	129	46	0.356589	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493740	0.64186	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	T	0.51534	0.1680	M	0.68593	2.085	0.33298	D	0.564499	P;P;P;P;P	0.52577	0.93;0.885;0.954;0.93;0.93	P;P;P;P;P	0.62435	0.902;0.801;0.711;0.902;0.902	T	0.64630	-0.6362	10	0.51188	T	0.08	.	14.5614	0.68140	1.0:0.0:0.0:0.0	.	1049;1049;730;1049;1049	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	L	1049	ENSP00000348984:M1049L;ENSP00000290239:M1049L;ENSP00000300278:M1049L;ENSP00000371095:M1049L	ENSP00000290239:M1049L	M	+	1	0	SON	33846552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.024000	0.64090	2.324000	0.78689	0.533000	0.62120	ATG	.	.	none		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34924682	A	C	34924682	3	2	35	1	0	0	0	0	1	0	0	0	14926	449	16	5	3155	5	SON	21	34924682	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	12213896	34924682	13205213	385	23612										
POTEH	23784	hgsc.bcm.edu	37	chr22	16287562	16287562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ctcttgccgctccccctgcaGcaggggaagcagtggcagca	13	15	1	0	rs202187764	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:16287562G>C	ENST00000343518.6	-	1	375	c.324C>G	c.(322-324)tgC>tgG	p.C108W		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	108										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCAGCAGGGGAAGC	0.587																																					p.C108W		Atlas-SNP	.											POTEH,NS,carcinoma,0,1	POTEH	114	1	0			c.C324G						scavenged	.						97	113	107					22																	16287562		2057	3890	5947	SO:0001583	missense	23784	exon1			CCTGCAGCAGGGG	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.324C>G	22.37:g.16287562G>C	ENSP00000340610:p.Cys108Trp	Somatic	166	23	0.138554		WXS	Illumina HiSeq	Phase_I	106	21	0.198113	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.136	0.023586	0.08006	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.37411	1.2	.	.	.	.	.	.	.	.	T	0.40297	0.1111	L	0.53249	1.67	0.09310	N	1	P	0.46578	0.88	P	0.51615	0.675	T	0.21314	-1.0249	7	0.38643	T	0.18	.	.	.	.	.	108	Q6S545	POTEH_HUMAN	W	108	ENSP00000340610:C108W	ENSP00000340610:C108W	C	-	3	2	POTEH	14667562	0.075000	0.21258	0.021000	0.16686	0.022000	0.10575	0.263000	0.18478	0.269000	0.21961	0.274000	0.19336	TGC	G|0.975;C|0.025	0.025	strong		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287562	G	C	16287562	3	2	35	1	0	0	0	0	1	0	0	0	12267	963	34	4	1353	4	POTEH	22	16287562	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10		16287562	35017004	386	23613										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230415	23230416	+	In_Frame_Ins	INS	-	-	CAG													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tcagttggaagcagccgatcINScagcctgcggagcctgtggg					rs180844836	byFrequency	TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:23230415_23230416insCAG	ENST00000526893.1	+	1	456_457	c.182_183insCAG	c.(181-186)tccagc>tcCAGcagc	p.61_62SS>SSS	IGLL5_ENST00000532223.2_In_Frame_Ins_p.61_62SS>SSS|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_In_Frame_Ins_p.61_62SS>SSS	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	61						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGCAGCCGATCCAGCCTGCGGA	0.653																																					p.S61delinsSS		Pindel,Atlas-Indel	.											.	IGLL5	26	.	0			c.182_183insCAG						PASS	.																																			SO:0001652	inframe_insertion	100423062	exon1			.	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.183_185dupCAG	22.37:g.23230416_23230418dupCAG	ENSP00000431254:p.Ser61_Ser61dup	Somatic	113	.	.		WXS	Illumina HiSeq	Phase_I	65	14	0.215	NM_001178126		In_Frame_Ins	INS	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.653	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		CAG	23230416	-	CAG	23230415	7	5	35	1	0	1	1	0	0	0	0	0	7594	855	30	0	184	0	IGLL5	22	23230415	In_Frame_Ins	INS	-	TCGA-GS-A9TZ-01A-11D-A38X-10	6942853	23230415	28074151	387	23614										
RHBDD3	25807	hgsc.bcm.edu	37	chr22	29660104	29660104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tgcaggaatctcagcgtgccCaggtggcactcctgctgcca	12	14	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:29660104C>T	ENST00000216085.7	-	4	676	c.252G>A	c.(250-252)ctG>ctA	p.L84L	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	84					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						TCAGCGTGCCCAGGTGGCACT	0.697																																					p.L84L		Atlas-SNP	.											.	RHBDD3	17	.	0			c.G252A						PASS	.						10	10	10					22																	29660104		2180	4269	6449	SO:0001819	synonymous_variant	25807	exon4			CGTGCCCAGGTGG	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.252G>A	22.37:g.29660104C>T		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	73	27	0.369863	NM_012265	Q6I9X3|Q9UGQ7	Silent	SNP	ENST00000216085.7	37	CCDS13850.1																																																																																			.	.	none		0.697	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		T	29660104	C	T	29660104	2	4	35	1	0	0	0	0	0	0	0	1	13318	581	21	2		2	RHBDD3	22	29660104	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6429689	29660104	21644462	388	23615										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa	11	11	1	1	rs147489453|rs75808076|rs59279731		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						scavenged	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	48	5	0.104167	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	35	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	225463	29885567	21418999	389	23616										
THOC5	8563	hgsc.bcm.edu	37	chr22	29938874	29938876	+	In_Frame_Del	DEL	CTT	CTT	-													0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tccaaacatttggtgatctcCttctgtaggtgcatcacctc							TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:29938874_29938876delCTT	ENST00000490103.1	-	5	546_548	c.424_426delAAG	c.(424-426)aagdel	p.K142del	THOC5_ENST00000397871.1_In_Frame_Del_p.K142del|THOC5_ENST00000397872.1_In_Frame_Del_p.K142del|THOC5_ENST00000397873.2_In_Frame_Del_p.K142del	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	142	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGTGATCTCCTTCTGTAGGTGC	0.453																																					p.142_143del		Atlas-Indel	.											.	THOC5	58	.	0			c.425_427del						PASS	.																																			SO:0001651	inframe_deletion	8563	exon5			.	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.424_426delAAG	22.37:g.29938874_29938876delCTT	ENSP00000420306:p.Lys142del	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	64	15	0.234375	NM_001002879	O60839|Q9UPZ5	In_Frame_Del	DEL	ENST00000490103.1	37	CCDS13859.1																																																																																			.	.	none		0.453	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		-	29938876	CTT	-	29938874	7	5	35	1	0	1	0	1	0	0	0	0	15865	680	24	0	1689	0	THOC5	22	29938874	In_Frame_Del	DEL	CTT	TCGA-GS-A9TZ-01A-11D-A38X-10	53307	29938874	21365692	390	23617										
PNPLA5	150379	hgsc.bcm.edu	37	chr22	44287689	44287689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggcattcggtggcgcccacGtggtgggcgcccaggtagcc	17	13	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:44287689G>A	ENST00000597664.1	-	1	201	c.72C>T	c.(70-72)caC>caT	p.H24H	PNPLA5_ENST00000381198.2_Silent_p.H24H|PNPLA5_ENST00000216177.4_Silent_p.H24H|PNPLA5_ENST00000593866.1_Silent_p.H24H			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	24	Patatin.				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)				TGGCGCCCACGTGGTGGGCGC	0.711																																					p.H24H		Atlas-SNP	.											.	PNPLA5	46	.	0			c.C72T						PASS	.						4	5	5					22																	44287689		1620	3066	4686	SO:0001819	synonymous_variant	150379	exon1			GCCCACGTGGTGG	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.72C>T	22.37:g.44287689G>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	83	21	0.253012	NM_138814	B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	37																																																																																				.	.	none		0.711	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		A	44287689	G	A	44287689	2	1	35	1	0	0	0	0	0	0	0	1	12168	1136	40	1		1	PNPLA5	22	44287689	Silent	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	14348815	44287689	7016877	391	23618										
SMC1B	27127	hgsc.bcm.edu	37	chr22	45789587	45789587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gctgacgttttccctcatggGtatcaatcccagcattctgc	8	13	3	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:45789587G>A	ENST00000357450.4	-	9	1471	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I	SMC1B_ENST00000404354.3_Missense_Mutation_p.T491I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	491	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCCTCATGGGTATCAATCCC	0.348																																					p.T491I		Atlas-SNP	.											.	SMC1B	215	.	0			c.C1472T						PASS	.						134	119	124					22																	45789587		1849	4099	5948	SO:0001583	missense	27127	exon9			TCATGGGTATCAA	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1472C>T	22.37:g.45789587G>A	ENSP00000350036:p.Thr491Ile	Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	270	76	0.281481	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764130	0.31228	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85013	-1.93;-1.93	6.07	-11.8	0.00035	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.886598	0.09782	N	0.756484	T	0.67702	0.2921	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19445	0.019;0.036;0.036	B;B;B	0.18871	0.006;0.023;0.023	T	0.54925	-0.8220	10	0.45353	T	0.12	.	10.1489	0.42780	0.1425:0.0951:0.6149:0.1475	.	491;491;491	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	I	491	ENSP00000350036:T491I;ENSP00000385902:T491I	ENSP00000350036:T491I	T	-	2	0	SMC1B	44168251	0.000000	0.05858	0.001000	0.08648	0.680000	0.39746	-1.271000	0.02828	-2.950000	0.00293	-0.375000	0.07067	ACC	.	.	none		0.348	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		A	45789587	G	A	45789587	3	1	35	1	0	0	0	0	1	0	0	0	14782	1261	44	2	2303	2	SMC1B	22	45789587	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	1501898	45789587	5514979	392	23619										
FBLN1	2192	hgsc.bcm.edu	37	chr22	45958992	45958992	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggagggctttttcaccacccGgaaggtgagcccccacagtg	13	13	1	1	rs11551		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chr22:45958992G>A	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Missense_Mutation_p.R671Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.R633Q	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCACCACCCGGAAGGTGAGC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13832	0.0		0.0	False		,,,				2504	0.0				p.R633Q		Atlas-SNP	.											.	FBLN1	143	.	0			c.G1898A						PASS	.	G	GLN/ARG,,	1,4405	2.1+/-5.4	0,1,2202	43	48	46		1898,,	-3	1	22	dbSNP_52	46	0,8600		0,0,4300	no	missense,intron,intron	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2	43,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	633/684,,	45958992	1,13005	2203	4300	6503	SO:0001627	intron_variant	2192	exon15			CCACCCGGAAGGT		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11399G>A	22.37:g.45958992G>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	81	26	0.320988	NM_001996	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981906	0.34942	2.27E-4	0.0	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.86030	-2.06;-1.93	4.72	-3.03	0.05429	.	.	.	.	.	T	0.69806	0.3152	N	0.17248	0.465	0.58432	D	0.999998	B;B	0.20052	0.041;0.038	B;B	0.08055	0.002;0.003	T	0.48387	-0.9040	9	0.25751	T	0.34	.	11.7537	0.51863	0.8271:0.0:0.1729:0.0	.	671;633	B1AHL2;P23142-4	.;.	Q	671;633	ENSP00000385521:R671Q;ENSP00000262722:R633Q	ENSP00000262722:R633Q	R	+	2	0	FBLN1	44337656	0.998000	0.40836	0.977000	0.42913	0.972000	0.66771	1.151000	0.31651	-0.447000	0.07138	-0.444000	0.05651	CGG	G|1.000	.	weak		0.667	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		A	45958992	G	A	45958992	1	1	35	0	1	0	0	0	0	0	0	0	5698	1116	39	1		1	FBLN1	22	45958992	Intron	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	169405	45958992	5345574	393	23620										
FRMPD4	9758	hgsc.bcm.edu	37	chrX	12728588	12728588	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gacggctggatactaccggcTgcttgttgattccaggaggt	14	9	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:12728588T>A	ENST00000380682.1	+	14	2047	c.1541T>A	c.(1540-1542)cTg>cAg	p.L514Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	514	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TACTACCGGCTGCTTGTTGAT	0.473																																					p.L514Q		Atlas-SNP	.											.	FRMPD4	214	.	0			c.T1541A						PASS	.						166	154	158					X																	12728588		2203	4300	6503	SO:0001583	missense	9758	exon14			ACCGGCTGCTTGT	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1541T>A	X.37:g.12728588T>A	ENSP00000370057:p.Leu514Gln	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	67	47	0.701493	NM_014728	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993601	0.54041	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.26957	1.7	5.47	5.47	0.80525	FERM domain (1);	0.000000	0.64402	D	0.000015	T	0.53786	0.1818	M	0.80422	2.495	0.45097	D	0.998116	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.60316	-0.7287	10	0.87932	D	0	.	14.5914	0.68368	0.0:0.0:0.0:1.0	.	506;514	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	514;505;503	ENSP00000370057:L514Q	ENSP00000304583:L503Q	L	+	2	0	FRMPD4	12638509	1.000000	0.71417	0.086000	0.20670	0.057000	0.15508	7.621000	0.83083	1.825000	0.53177	0.486000	0.48141	CTG	.	.	none		0.473	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12728588	T	A	12728588	3	1	35	1	0	0	0	0	1	0	0	0	6059	1580	55	5	1595	5	FRMPD4	23	12728588	Missense_Mutation	SNP	T	TCGA-GS-A9TZ-01A-11D-A38X-10		12728588	142541972	394	23621										
PDHA1	5160	hgsc.bcm.edu	37	chrX	19369482	19369482	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgggctcacggctttactttCacccggggcctttccgtccg	11	16	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:19369482C>T	ENST00000422285.2	+	4	480	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PDHA1_ENST00000379805.3_Silent_p.F125F|PDHA1_ENST00000540249.1_Silent_p.F125F|PDHA1_ENST00000545074.1_Silent_p.F132F|PDHA1_ENST00000379806.5_Silent_p.F163F			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	125					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GCTTTACTTTCACCCGGGGCC	0.502																																					p.F163F		Atlas-SNP	.											.	PDHA1	85	.	0			c.C489T						PASS	.						104	97	99					X																	19369482		2203	4300	6503	SO:0001819	synonymous_variant	5160	exon5			TACTTTCACCCGG		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.375C>T	X.37:g.19369482C>T		Somatic	245	0	0		WXS	Illumina HiSeq	Phase_I	273	181	0.663004	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	CCDS14192.1																																																																																			.	.	none		0.502	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			T	19369482	C	T	19369482	2	4	35	1	0	0	0	0	0	0	0	1	11664	825	29	2		2	PDHA1	23	19369482	Silent	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	6640894	19369482	135901078	395	23622										
MAP7D2	256714	hgsc.bcm.edu	37	chrX	20074801	20074801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggcaaccctacactcaccatCatgtcctccgggtccaatgg	8	16	2	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:20074801C>T	ENST00000379651.3	-	4	499	c.481G>A	c.(481-483)Gat>Aat	p.D161N	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D161N|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D117N|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D32N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D161N	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	161					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CACTCACCATCATGTCCTCCG	0.587																																					p.D161N		Atlas-SNP	.											.	MAP7D2	165	.	0			c.G481A						PASS	.						115	74	88					X																	20074801		2203	4300	6503	SO:0001583	missense	256714	exon4			CACCATCATGTCC	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.481G>A	X.37:g.20074801C>T	ENSP00000368972:p.Asp161Asn	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	44	30	0.681818	NM_001168466	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295847	0.40594	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.03	5.03	0.67393	.	0.081663	0.49916	D	0.000125	T	0.16685	0.0401	L	0.32530	0.975	0.42193	D	0.991732	P;P;P;P;P;P	0.51351	0.906;0.835;0.944;0.734;0.906;0.9	B;P;P;P;B;P	0.47645	0.444;0.553;0.553;0.549;0.351;0.553	T	0.03025	-1.1081	10	0.29301	T	0.29	.	17.726	0.88365	0.0:1.0:0.0:0.0	.	161;117;161;161;161;32	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	N	161;161;32;161;117;161	ENSP00000368972:D161N;ENSP00000368964:D161N;ENSP00000440691:D32N;ENSP00000388239:D161N;ENSP00000413301:D117N	ENSP00000332677:D161N	D	-	1	0	MAP7D2	19984722	0.992000	0.36948	0.623000	0.29173	0.295000	0.27426	3.135000	0.50546	2.204000	0.70986	0.506000	0.49869	GAT	.	.	none		0.587	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		T	20074801	C	T	20074801	3	4	35	1	0	0	0	0	1	0	0	0	9268	826	29	2	1892	2	MAP7D2	23	20074801	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	705319	20074801	135195759	396	23623										
DMD	1756	hgsc.bcm.edu	37	chrX	33146262	33146262	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	tttatctgcagcttttactcAccagatgagacctcagacat	6	11	3	3			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:33146262A>G	ENST00000378677.2	-	1	214		c.e1+1		DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTTTACTCACCAGATGAGA	0.418																																					.		Atlas-SNP	.											.	DMD	2127	.	0			c.19+2T>C						PASS	.						112	90	97					X																	33146262		1857	4091	5948	SO:0001630	splice_region_variant	1756	exon2			TTACTCACCAGAT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000378677.2:c.19+1T>C	X.37:g.33146262A>G		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	99	63	0.636364	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000378677.2	37	CCDS55395.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754929	0.49362	.	.	ENSG00000198947	ENST00000378677	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0527	0.53515	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	33056183	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.789000	0.69029	2.056000	0.61249	0.441000	0.28932	.	.	.	none		0.418	DMD-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056187.2	NM_004006	Intron	G	33146262	A	G	33146262	5	3	35	1	0	0	0	0	0	0	1	0	4580	173	6	2	11583	2	DMD	23	33146262	Splice_Site	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	13071461	33146262	122124298	397	23624										
DDX3X	1654	hgsc.bcm.edu	37	chrX	41206603	41206603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gtttggtgccagagactaccGacaaagtagcggtgccagca	13	10	0	1			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:41206603G>A	ENST00000399959.2	+	16	2663	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.R587Q	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	603	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGAGACTACCGACAAagtagc	0.502										HNSCC(61;0.18)																											p.R603Q		Atlas-SNP	.											.	DDX3X	138	.	0			c.G1808A						PASS	.						66	73	70					X																	41206603		2188	4289	6477	SO:0001583	missense	1654	exon16			ACTACCGACAAAG	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1808G>A	X.37:g.41206603G>A	ENSP00000382840:p.Arg603Gln	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	126	83	0.65873	NM_001356	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.505398	0.85282	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.24538	1.85;1.87	5.48	5.48	0.80851	.	0.055112	0.85682	D	0.000000	T	0.58906	0.2155	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.61201	0.885;0.885;0.885;0.885	T	0.70055	-0.4977	10	0.87932	D	0	-29.9248	18.4946	0.90860	0.0:0.0:1.0:0.0	.	473;587;615;603	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	Q	603;587	ENSP00000382840:R603Q;ENSP00000392494:R587Q	ENSP00000382840:R603Q	R	+	2	0	DDX3X	41091547	1.000000	0.71417	0.978000	0.43139	0.970000	0.65996	9.431000	0.97494	2.309000	0.77851	0.591000	0.81541	CGA	.	.	none		0.502	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		A	41206603	G	A	41206603	3	1	35	1	0	0	0	0	1	0	0	0	4358	1058	37	1	1870	1	DDX3X	23	41206603	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	8060341	41206603	114063957	398	23625										
PIM2	11040	hgsc.bcm.edu	37	chrX	48775891	48775891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	aggagggggccgagtcgataCtcggcctcgaacgcttcccg	15	13	0	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:48775891C>G	ENST00000376509.4	-	2	282	c.93G>C	c.(91-93)gaG>gaC	p.E31D		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	31					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						CGAGTCGATACTCGGCCTCGA	0.667																																					p.E31D		Atlas-SNP	.											.	PIM2	31	.	0			c.G93C						PASS	.						35	32	33					X																	48775891		2202	4300	6502	SO:0001583	missense	11040	exon2			TCGATACTCGGCC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.93G>C	X.37:g.48775891C>G	ENSP00000365692:p.Glu31Asp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	109	85	0.779817	NM_006875	A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944106	0.18281	.	.	ENSG00000102096	ENST00000376509	T	0.12569	2.67	3.9	-1.03	0.10102	Protein kinase-like domain (1);	0.277470	0.28989	N	0.013499	T	0.06645	0.0170	N	0.19112	0.55	0.28880	N	0.894448	B	0.18968	0.032	B	0.15484	0.013	T	0.39292	-0.9621	10	0.15952	T	0.53	.	8.1126	0.30924	0.0:0.4588:0.0:0.5412	.	31	Q9P1W9	PIM2_HUMAN	D	31	ENSP00000365692:E31D	ENSP00000365692:E31D	E	-	3	2	PIM2	48660835	0.001000	0.12720	0.982000	0.44146	0.965000	0.64279	-1.883000	0.01623	-0.398000	0.07679	0.544000	0.68410	GAG	.	.	none		0.667	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			G	48775891	C	G	48775891	3	3	35	1	0	0	0	0	1	0	0	0	11928	564	20	4	862	4	PIM2	23	48775891	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	7569288	48775891	106494669	399	23626										
FGF16	8823	hgsc.bcm.edu	37	chrX	76709750	76709750	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	gcgaggagaactctatgggtCggtaagtttaaggttttttt	13	4	1	1	rs376876932		TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:76709750C>T	ENST00000439435.1	+	1	103	c.103C>T	c.(103-105)Cga>Tga	p.R35*				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						CTCTATGGGTCGGTAAGTTTA	0.393																																					p.S35L		Atlas-SNP	.											.	FGF16	16	.	0			c.C104T						PASS	.	C	LEU/SER	0,3122		0,0,1276,570	72	61	64		106	4.3	1	X		64	1,6376		0,1,2302,1771	no	missense-near-splice	FGF16	NM_003868.1	145	0,1,3578,2341	TT,TC,CC,C		0.0157,0.0,0.0105	probably-damaging	126/208	76709750	1,9498	1846	4074	5920	SO:0001630	splice_region_variant	8823	exon1			ATGGGTCGGTAAG	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"metacarpal 4-5 fusion"	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.104+1C>T	X.37:g.76709750C>T		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	130	81	0.623077	NM_003868		Missense_Mutation	SNP	ENST00000439435.1	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.727957	0.89390	0.0	1.57E-4	ENSG00000196468	ENST00000439435	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3197	0.82945	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	FGF16	76596406	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.567000	0.82357	2.107000	0.64212	0.600000	0.82982	CGA	.	.	weak		0.393	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868	Nonsense_Mutation	T	76709750	C	T	76709750	5	4	35	1	0	0	0	0	0	0	1	0	5844	898	31	1	106	1	FGF16	23	76709750	Splice_Site	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	27933859	76709750	78560810	400	23627										
KCNE1L	23630	hgsc.bcm.edu	37	chrX	108867913	108867913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	ggagcccgcggcagcctcggCgtcggcggtcagggcgcctc	18	16	1	0			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:108867913C>T	ENST00000372101.2	-	1	480	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	113					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCAGCCTCGGCGTCGGCGGTC	0.746																																					p.A113T		Atlas-SNP	.											.	KCNE1L	8	.	0			c.G337A						PASS	.						4	4	4					X																	108867913		1938	3803	5741	SO:0001583	missense	23630	exon1			CCTCGGCGTCGGC	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.337G>A	X.37:g.108867913C>T	ENSP00000361173:p.Ala113Thr	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	50	36	0.72	NM_012282		Missense_Mutation	SNP	ENST00000372101.2	37	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	c	9.703	1.154965	0.21371	.	.	ENSG00000176076	ENST00000372101	T	0.70399	-0.48	4.31	2.5	0.30297	.	0.407802	0.20787	N	0.085687	T	0.50667	0.1629	L	0.27053	0.805	0.20074	N	0.999935	B	0.31125	0.309	B	0.23852	0.049	T	0.42899	-0.9424	10	0.52906	T	0.07	-10.0695	5.8092	0.18457	0.0:0.651:0.1631:0.1859	.	113	Q9UJ90	KCE1L_HUMAN	T	113	ENSP00000361173:A113T	ENSP00000361173:A113T	A	-	1	0	KCNE1L	108754569	0.083000	0.21467	0.399000	0.26333	0.231000	0.25187	0.510000	0.22723	0.546000	0.28920	0.597000	0.82753	GCC	.	.	none		0.746	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		T	108867913	C	T	108867913	3	4	35	1	0	0	0	0	1	0	0	0	8022	768	27	1	95	1	KCNE1L	23	108867913	Missense_Mutation	SNP	C	TCGA-GS-A9TZ-01A-11D-A38X-10	32158163	108867913	46402647	401	23628										
AFF2	2334	hgsc.bcm.edu	37	chrX	147743486	147743486	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	acacgcttggaaactatgatGaaatgaagaatttgctaact	8	6	0	4			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:147743486G>A	ENST00000370460.2	+	3	717	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AFF2_ENST00000370458.1_Missense_Mutation_p.E76K|AFF2_ENST00000370457.5_Missense_Mutation_p.E76K|AFF2_ENST00000342251.3_Missense_Mutation_p.E76K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	80					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTATGATGAAATGAAGAA	0.403																																					p.E80K		Atlas-SNP	.											.	AFF2	679	.	0			c.G238A						PASS	.						124	124	124					X																	147743486		2203	4300	6503	SO:0001583	missense	2334	exon3			TATGATGAAATGA	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.238G>A	X.37:g.147743486G>A	ENSP00000359489:p.Glu80Lys	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	272	193	0.709559	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513184	0.85389	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.49	5.49	0.81192	.	0.057352	0.64402	D	0.000003	D	0.86740	0.6005	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D;D	0.89917	0.971;0.971;0.971;0.971;0.977;1.0	P;P;P;P;P;D	0.87578	0.783;0.783;0.783;0.783;0.862;0.998	D	0.87917	0.2701	10	0.87932	D	0	.	18.4456	0.90682	0.0:0.0:1.0:0.0	.	80;76;76;76;80;76	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	K	80;76;76;76	ENSP00000359489:E80K;ENSP00000359486:E76K;ENSP00000345459:E76K;ENSP00000359487:E76K	ENSP00000345459:E76K	E	+	1	0	AFF2	147551178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.490000	0.97952	2.297000	0.77311	0.600000	0.82982	GAA	.	.	none		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	147743486	G	A	147743486	3	1	35	1	0	0	0	0	1	0	0	0	357	1291	45	2	248	2	AFF2	23	147743486	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	38875573	147743486	7527074	402	23629										
NSDHL	50814	hgsc.bcm.edu	37	chrX	152034408	152034408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	agaagaatttcttaaccacaGccatccgccctcatggcatt	6	13	2	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:152034408G>A	ENST00000370274.3	+	6	783	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A197T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	197					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAACCACAGCCATCCGCCC	0.567																																					p.A197T		Atlas-SNP	.											.	NSDHL	33	.	0			c.G589A						PASS	.						123	112	116					X																	152034408		2203	4300	6503	SO:0001583	missense	50814	exon6			ACCACAGCCATCC	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.589G>A	X.37:g.152034408G>A	ENSP00000359297:p.Ala197Thr	Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	43	27	0.627907	NM_015922	D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711312	0.89112	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.90955	-2.76;-2.76;-2.76	5.89	5.02	0.67125	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95132	0.8256	10	0.66056	D	0.02	-0.1274	13.7626	0.62975	0.0:0.1506:0.8494:0.0	.	197	Q15738	NSDHL_HUMAN	T	197	ENSP00000359297:A197T;ENSP00000391854:A197T;ENSP00000396266:A197T	ENSP00000359297:A197T	A	+	1	0	NSDHL	151785064	1.000000	0.71417	0.832000	0.32986	0.674000	0.39518	9.869000	0.99810	1.239000	0.43787	0.529000	0.55759	GCC	.	.	none		0.567	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		A	152034408	G	A	152034408	3	1	35	1	0	0	0	0	1	0	0	0	10670	971	34	2	607	2	NSDHL	23	152034408	Missense_Mutation	SNP	G	TCGA-GS-A9TZ-01A-11D-A38X-10	4290922	152034408	3236152	403	23630										
FAM50A	9130	hgsc.bcm.edu	37	chrX	153674051	153674051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.182957393483709	73	1.07034188252736e-08	2.14970706136294	3.62612480026911	1.84614453560653	2.57654446828659e-06	3.52127743999167e-05	39	cgcggtggaggcagagctcaAgtccagcaccgtgggtgagc	17	11	1	2			TCGA-GS-A9TZ-01A-11D-A38X-10	TCGA-GS-A9TZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	93217755-b79d-4e32-8e97-76bcd262bae8	96fefcbd-9bc5-4473-be47-0f4c19aa6e57	g.chrX:153674051A>G	ENST00000393600.3	+	2	292	c.182A>G	c.(181-183)aAg>aGg	p.K61R		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	61					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGAGCTCAAGTCCAGCACC	0.627																																					p.K61R		Atlas-SNP	.											.	FAM50A	32	.	0			c.A182G						PASS	.						67	53	57					X																	153674051		2203	4300	6503	SO:0001583	missense	9130	exon2			AGCTCAAGTCCAG	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.182A>G	X.37:g.153674051A>G	ENSP00000377225:p.Lys61Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	67	0.705263	NM_004699	A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754495	0.69648	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	4.71	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.62154	1.92	0.51012	D	0.999904	B	0.31548	0.328	B	0.25506	0.061	T	0.51044	-0.8755	9	0.38643	T	0.18	-43.1027	9.473	0.38853	0.8403:0.0:0.0:0.1597	.	61	Q14320	FA50A_HUMAN	R	61;21	.	ENSP00000158526:K21R	K	+	2	0	FAM50A	153327245	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.688000	0.68227	1.658000	0.50742	0.430000	0.28490	AAG	.	.	none		0.627	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		G	153674051	A	G	153674051	3	3	35	1	0	0	0	0	1	0	0	0	5577	72	3	3	188	3	FAM50A	23	153674051	Missense_Mutation	SNP	A	TCGA-GS-A9TZ-01A-11D-A38X-10	1639643	153674051	1596509	404	23631										
PTCHD2	57540	hgsc.bcm.edu	37	chr1	11595630	11595630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccatcctcgttggctcctccGtggattactgcgtccacctg	9	16	0	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:11595630G>A	ENST00000294484.6	+	20	3883	c.3745G>A	c.(3745-3747)Gtg>Atg	p.V1249M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1249					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTCCTCCGTGGATTACTG	0.647																																					p.V1249M		Atlas-SNP	.											PTCHD2,NS,carcinoma,-2,1	PTCHD2	193	1	0			c.G3745A						PASS	.						68	80	76					1																	11595630		2133	4230	6363	SO:0001583	missense	57540	exon20			TCCTCCGTGGATT	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3745G>A	1.37:g.11595630G>A	ENSP00000294484:p.Val1249Met	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	48	5	0.104167	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.552516|3.552516	0.65425|0.65425	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.94457	.|-3.43;-2.84	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.97334|0.97334	0.9128|0.9128	M|M	0.81802|0.81802	2.56|2.56	0.48185|0.48185	D|D	0.999605|0.999605	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97740|0.97740	1.0208|1.0208	6|10	0.87932|0.72032	D|D	0|0.01	-24.6787|-24.6787	18.4583|18.4583	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1249	.|Q9P2K9	.|PTHD2_HUMAN	H|M	135|1249	.|ENSP00000294484:V1249M;ENSP00000374226:V1249M	ENSP00000303400:R135H|ENSP00000294484:V1249M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11518217|11518217	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.766000|0.766000	0.43426|0.43426	7.578000|7.578000	0.82498|0.82498	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	CGT|GTG	.	.	none		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11595630	G	A	11595630	3	1	36	1	0	0	0	0	1	0	0	0	12733	1145	40	1	3819	1	PTCHD2	1	11595630	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		11595630	237654991	1	23632										
CCDC21	64793	hgsc.bcm.edu	37	chr1	26584680	26584680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agcagaaagtgcgagagagcGaactgcaagtccacagtgcc	13	10	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:26584680G>A	ENST00000252992.4	+	6	1215	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CEP85_ENST00000451429.2_Missense_Mutation_p.E311K	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	362						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCGAGAGAGCGAACTGCAAGT	0.547																																					p.E362K		Atlas-SNP	.											.	CEP85	61	.	0			c.G1084A						PASS	.						127	114	118					1																	26584680		2203	4300	6503	SO:0001583	missense	64793	exon6			GAGAGCGAACTGC	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1084G>A	1.37:g.26584680G>A	ENSP00000252992:p.Glu362Lys	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	85	17	0.2	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790414	0.96945	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.11604	2.76;2.76	6.04	6.04	0.98038	.	0.047882	0.85682	D	0.000000	T	0.34542	0.0901	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.981;0.991;1.0	P;P;D	0.77557	0.572;0.653;0.99	T	0.00166	-1.1965	10	0.44086	T	0.13	-16.1413	20.5948	0.99439	0.0:0.0:1.0:0.0	.	311;362;362	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	K	311;362	ENSP00000417002:E311K;ENSP00000252992:E362K	ENSP00000252992:E362K	E	+	1	0	CEP85	26457267	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GAA	.	.	none		0.547	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		A	26584680	G	A	26584680	3	1	36	1	0	0	0	0	1	0	0	0	2796	1059	37	1	1102	1	CCDC21	1	26584680	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	14989050	26584680	222665941	2	23633										
SPOCD1	90853	hgsc.bcm.edu	37	chr1	32258931	32258931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gctgggccctggcccggaacCgcttgatggagaacatgtcc	14	13	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:32258931C>T	ENST00000360482.2	-	13	2762	c.2633G>A	c.(2632-2634)cGg>cAg	p.R878Q	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R371Q|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R878Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	878	SPOC.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCCCGGAACCGCTTGATGGA	0.647																																					p.R878Q		Atlas-SNP	.											.	SPOCD1	109	.	0			c.G2633A						PASS	.						33	29	30					1																	32258931		2199	4298	6497	SO:0001583	missense	90853	exon13			CGGAACCGCTTGA	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2633G>A	1.37:g.32258931C>T	ENSP00000353670:p.Arg878Gln	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	150	28	0.186667	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.837206|2.837206	0.50951|0.50951	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	.|T;T;T;T	.|0.43688	.|0.94;1.94;0.95;1.95	5.73|5.73	-0.674|-0.674	0.11369|0.11369	.|Spen paralogue and orthologue SPOC, C-terminal (1);	.|.	.|.	.|.	.|.	T|T	0.22003|0.22003	0.0530|0.0530	L|L	0.39633|0.39633	1.23|1.23	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.40398	.|0.669;0.515;0.716	.|B;B;B	.|0.25405	.|0.053;0.06;0.06	T|T	0.05767|0.05767	-1.0865|-1.0865	5|9	.|0.37606	.|T	.|0.19	-11.3723|-11.3723	5.2404|5.2404	0.15469|0.15469	0.0:0.4735:0.1415:0.385|0.0:0.4735:0.1415:0.385	.|.	.|878;314;878	.|Q6ZMY3-2;E9PPM7;Q6ZMY3	.|.;.;SPOC1_HUMAN	S|Q	252|371;878;238;314;878	.|ENSP00000257100:R371Q;ENSP00000353670:R878Q;ENSP00000399778:R314Q;ENSP00000435851:R878Q	.|ENSP00000257100:R371Q	G|R	-|-	1|2	0|0	SPOCD1|SPOCD1	32031518|32031518	0.006000|0.006000	0.16342|0.16342	0.935000|0.935000	0.37517|0.37517	0.999000|0.999000	0.98932|0.98932	-0.937000|-0.937000	0.03942|0.03942	-0.063000|-0.063000	0.13065|0.13065	0.655000|0.655000	0.94253|0.94253	GGT|CGG	.	.	none		0.647	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32258931	C	T	32258931	3	4	36	1	0	0	0	0	1	0	0	0	15077	652	23	1	1033	1	SPOCD1	1	32258931	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	5674251	32258931	216991690	3	23634										
C1orf173	127254	hgsc.bcm.edu	37	chr1	75038599	75038599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cagccaccccaccctcagccTctccctcctccgatgtcgct	5	23	2	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:75038599T>C	ENST00000326665.5	-	14	3013	c.2795A>G	c.(2794-2796)gAg>gGg	p.E932G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		932	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCCTCAGCCTCTCCCTCCTC	0.542																																					p.E932G		Atlas-SNP	.											.	C1orf173	380	.	0			c.A2795G						PASS	.						133	136	135					1																	75038599		2203	4300	6503	SO:0001583	missense	127254	exon14			TCAGCCTCTCCCT																												ENST00000326665.5:c.2795A>G	1.37:g.75038599T>C	ENSP00000322609:p.Glu932Gly	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	79	16	0.202532	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786245	0.49997	.	.	ENSG00000178965	ENST00000326665	T	0.18174	2.23	4.73	0.749	0.18381	.	.	.	.	.	T	0.03695	0.0105	L	0.36672	1.1	0.09310	N	1	B	0.21225	0.053	B	0.21917	0.037	T	0.42241	-0.9463	9	0.44086	T	0.13	-6.2511	2.33	0.04233	0.1433:0.085:0.2952:0.4765	.	932	Q5RHP9	CA173_HUMAN	G	932	ENSP00000322609:E932G	ENSP00000322609:E932G	E	-	2	0	C1orf173	74811187	0.000000	0.05858	0.063000	0.19743	0.011000	0.07611	0.421000	0.21280	0.174000	0.19809	-0.460000	0.05396	GAG	.	.	none		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			C	75038599	T	C	75038599	3	2	36	1	0	0	0	0	1	0	0	0	2014	1551	54	3	1801	3	C1orf173	1	75038599	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	42779668	75038599	174212022	4	23635										
PIP5K1A	8394	hgsc.bcm.edu	37	chr1	151206713	151206713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gactttgctgcctaaattctAtggactgtactgtgtgcagg	11	8	1	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:151206713A>G	ENST00000368888.4	+	8	1102	c.680A>G	c.(679-681)tAt>tGt	p.Y227C	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.Y214C|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.Y215C|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.Y215C	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	227	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTAAATTCTATGGACTGTAC	0.418																																					p.Y227C	Pancreas(80;36 1443 2325 16095 21302)	Atlas-SNP	.											.	PIP5K1A	61	.	0			c.A680G						PASS	.						108	99	102					1																	151206713		2203	4300	6503	SO:0001583	missense	8394	exon8			AATTCTATGGACT	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.680A>G	1.37:g.151206713A>G	ENSP00000357883:p.Tyr227Cys	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	218	70	0.321101	NM_001135638	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358986	0.82353	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.88	4.88	0.63580	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.84773	2.715	0.80722	D	1	B;D;P;D	0.89917	0.152;1.0;0.881;1.0	P;D;P;D	0.71414	0.511;0.957;0.745;0.973	T	0.68834	-0.5304	10	0.87932	D	0	.	14.6488	0.68780	1.0:0.0:0.0:0.0	.	215;214;227;214	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	C	214;215;215;214;227	ENSP00000271663:Y214C;ENSP00000386432:Y215C;ENSP00000415648:Y215C;ENSP00000357885:Y214C;ENSP00000357883:Y227C	ENSP00000271663:Y214C	Y	+	2	0	PIP5K1A	149473337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.051000	0.93849	2.196000	0.70406	0.473000	0.43528	TAT	.	.	none		0.418	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		G	151206713	A	G	151206713	3	3	36	1	0	0	0	0	1	0	0	0	11939	449	16	2	710	2	PIP5K1A	1	151206713	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	76168114	151206713	98043908	5	23636										
FLG	2312	hgsc.bcm.edu	37	chr1	152284823	152284823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ctgccttcctcttctgcttgAccccgggtgtccacgaatgg	10	15	2	1	rs74129459	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:152284823A>G	ENST00000368799.1	-	3	2574	c.2539T>C	c.(2539-2541)Tca>Cca	p.S847P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	847	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTTGACCCCGGGTGT	0.582									Ichthyosis																												p.S847P		Atlas-SNP	.											FLG,NS,carcinoma,0,1	FLG	900	1	0			c.T2539C						scavenged	.						322	322	322					1																	152284823		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCTTGACCCCGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2539T>C	1.37:g.152284823A>G	ENSP00000357789:p.Ser847Pro	Somatic	135	4	0.0296296		WXS	Illumina HiSeq	Phase_I	170	5	0.0294118	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.279	0.608792	0.14066	.	.	ENSG00000143631	ENST00000368799	T	0.03772	3.81	3.63	2.44	0.29823	.	.	.	.	.	T	0.05731	0.0150	L	0.58428	1.81	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.31530	-0.9940	9	0.34782	T	0.22	.	6.6957	0.23197	0.7566:0.2434:0.0:0.0	.	847	P20930	FILA_HUMAN	P	847	ENSP00000357789:S847P	ENSP00000357789:S847P	S	-	1	0	FLG	150551447	0.001000	0.12720	0.003000	0.11579	0.020000	0.10135	0.252000	0.18278	0.443000	0.26582	0.392000	0.25879	TCA	A|0.984;T|0.016	.	alt		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152284823	A	G	152284823	3	3	36	1	0	0	0	0	1	0	0	0	5922	275	10	2	9650	2	FLG	1	152284823	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	1078110	152284823	96965798	6	23637										
LY9	4063	hgsc.bcm.edu	37	chr1	160794028	160794028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccacaatctactgctccataCggaaacctcaggtggtgaga	9	12	2	1	rs374075565		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:160794028C>T	ENST00000263285.6	+	9	1918	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	LY9_ENST00000368037.5_Missense_Mutation_p.R616W|LY9_ENST00000392203.4_Missense_Mutation_p.R540W|LY9_ENST00000341032.4_Missense_Mutation_p.R496W|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.R500W			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	630					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGCTCCATACGGAAACCTCA	0.488																																					p.R630W		Atlas-SNP	.											.	LY9	115	.	0			c.C1888T						PASS	.	C	TRP/ARG	0,4406		0,0,2203	168	161	163		1888	1.7	0	1		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	LY9	NM_002348.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/656	160794028	1,13005	2203	4300	6503	SO:0001583	missense	4063	exon9			TCCATACGGAAAC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1888C>T	1.37:g.160794028C>T	ENSP00000263285:p.Arg630Trp	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	84	26	0.309524	NM_002348	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	8.482	0.859951	0.17178	0.0	1.16E-4	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.35973	1.34;1.28	3.57	1.66	0.24008	.	1.958810	0.03098	N	0.160758	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;D;D	0.65815	0.0;0.995;0.991	B;P;B	0.50708	0.0;0.648;0.446	T	0.15350	-1.0440	10	0.87932	D	0	-6.4141	5.0343	0.14426	0.0:0.6336:0.2444:0.122	.	496;616;630	E7EME5;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	W	630;496;630;500;576;398	ENSP00000342921:R496W;ENSP00000263285:R630W	ENSP00000263285:R630W	R	+	1	2	LY9	159060652	0.013000	0.17824	0.011000	0.14972	0.006000	0.05464	0.283000	0.18846	0.467000	0.27218	-0.214000	0.12660	CGG	.	.	none		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		T	160794028	C	T	160794028	3	4	36	1	0	0	0	0	1	0	0	0	9101	527	19	1	2054	1	LY9	1	160794028	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	8509205	160794028	88456593	7	23638										
POGK	57645	hgsc.bcm.edu	37	chr1	166818482	166818482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aacaactgccaggctgccaaGcagtttggagtattggaaaa	11	8	0	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:166818482G>A	ENST00000367875.1	+	5	1026	c.666G>A	c.(664-666)aaG>aaA	p.K222K	POGK_ENST00000367876.4_Silent_p.K222K|POGK_ENST00000537173.1_Silent_p.K104K|POGK_ENST00000536514.1_Silent_p.K137K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AGGCTGCCAAGCAGTTTGGAG	0.552																																					p.K222K	GBM(76;192 1530 30153 48742)	Atlas-SNP	.											.	POGK	54	.	0			c.G666A						PASS	.						49	51	50					1																	166818482		2203	4300	6503	SO:0001819	synonymous_variant	57645	exon5			TGCCAAGCAGTTT	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.666G>A	1.37:g.166818482G>A		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	95	9	0.0947368	NM_017542	Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	CCDS1254.1																																																																																			.	.	none		0.552	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		A	166818482	G	A	166818482	2	1	36	1	0	0	0	0	0	0	0	1	12185	962	34	2		2	POGK	1	166818482	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	6024454	166818482	82432139	8	23639										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525060	248525060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccaaacatccagcactacttTgtgtggtcatttttgtggtt	8	9	1	0	rs28491677	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:248525060T>A	ENST00000366475.1	+	1	178	c.178T>A	c.(178-180)Tgt>Agt	p.C60S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			AGCACTACTTTGTGTGGTCAT	0.488													t|||	1477	0.294928	0.2421	0.2709	5008	,	,		20455	0.4276		0.1809	False		,,,				2504	0.364				p.C60S		Atlas-SNP	.											OR2T4,NS,carcinoma,-1,1	OR2T4	126	1	0			c.T178A						scavenged	.						176	175	175					1																	248525060		2203	4300	6503	SO:0001583	missense	127074	exon1			CTACTTTGTGTGG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.178T>A	1.37:g.248525060T>A	ENSP00000355431:p.Cys60Ser	Somatic	479	4	0.00835073		WXS	Illumina HiSeq	Phase_I	489	9	0.0184049	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	500	0.22893772893772893	101	0.20528455284552846	72	0.19889502762430938	210	0.36713286713286714	117	0.15435356200527706	t	9.676	1.147970	0.21288	.	.	ENSG00000196944	ENST00000366475	T	0.02944	4.1	3.48	2.33	0.28932	.	0.441217	0.19340	N	0.116665	T	0.00012	0.0000	N	0.00746	-1.225	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.41574	-0.9501	9	0.59425	D	0.04	.	8.6683	0.34134	0.1713:0.0:0.0:0.8287	rs28491677;rs58960769	60	Q8NH00	OR2T4_HUMAN	S	60	ENSP00000355431:C60S	ENSP00000355431:C60S	C	+	1	0	OR2T4	246591683	0.044000	0.20184	0.001000	0.08648	0.025000	0.11179	2.832000	0.48152	0.248000	0.21435	-0.510000	0.04470	TGT	T|0.787;A|0.213	0.213	strong		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525060	T	A	248525060	3	1	36	1	0	0	0	0	1	0	0	0	11027	1812	63	5	180	5	OR2T4	1	248525060	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	81706578	248525060	725561	9	23640										
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525639	248525639	+	Missense_Mutation	SNP	A	A	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tttcaagctcctatttactcAtcctcctcaccatccacggg					rs34079073|rs76878172	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:248525639A>T	ENST00000366475.1	+	1	757	c.757A>T	c.(757-759)Atc>Ttc	p.I253F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			CTATTTACTCATCCTCCTCAC	0.522																																					p.I253F		Atlas-SNP	.											OR2T4,brain,glioma,0,1	OR2T4	126	1	0			c.A757T						scavenged	.						94	74	81					1																	248525639		2024	3426	5450	SO:0001583	missense	127074	exon1			TTACTCATCCTCC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757A>T	1.37:g.248525639A>T	ENSP00000355431:p.Ile253Phe	Somatic	419	410	0.97852		WXS	Illumina HiSeq	Phase_I	454	437	0.962555	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250012	0.39797	.	.	ENSG00000196944	ENST00000366475	T	0.00414	7.52	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01835	0.0058	H	0.96142	3.775	0.40727	D	0.98271	D	0.89917	1.0	D	0.85130	0.997	T	0.25117	-1.0141	10	0.87932	D	0	.	11.1471	0.48436	1.0:0.0:0.0:0.0	.	253	Q8NH00	OR2T4_HUMAN	F	253	ENSP00000355431:I253F	ENSP00000355431:I253F	I	+	1	0	OR2T4	246592262	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	7.329000	0.79170	1.264000	0.44198	0.477000	0.44152	ATC	.	.	alt		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525639	A	T	248525639	3	4	36	1	0	0	0	0	1	0	0	0	11027	217	8	5	759	5	OR2T4	1	248525639	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	579	248525639	724982	10	23641	480	2								
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525640	248525640	+	Missense_Mutation	SNP	T	T	C													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ttcaagctcctatttactcaTcctcctcaccatccacggga							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr1:248525640T>C	ENST00000366475.1	+	1	758	c.758T>C	c.(757-759)aTc>aCc	p.I253T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			TATTTACTCATCCTCCTCACC	0.517																																					p.I253T		Atlas-SNP	.											OR2T4,brain,glioma,+1,1	OR2T4	126	1	0			c.T758C						PASS	.						135	130	132					1																	248525640		2203	4300	6503	SO:0001583	missense	127074	exon1			TACTCATCCTCCT	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.758T>C	1.37:g.248525640T>C	ENSP00000355431:p.Ile253Thr	Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	47	24	0.510638	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315398	0.23908	.	.	ENSG00000196944	ENST00000366475	T	0.00402	7.56	3.09	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01523	0.0049	H	0.95151	3.63	0.33277	D	0.561816	D	0.89917	1.0	D	0.85130	0.997	T	0.11299	-1.0593	10	0.87932	D	0	.	7.6506	0.28346	0.0:0.1075:0.0:0.8925	.	253	Q8NH00	OR2T4_HUMAN	T	253	ENSP00000355431:I253T	ENSP00000355431:I253T	I	+	2	0	OR2T4	246592263	1.000000	0.71417	0.061000	0.19648	0.014000	0.08584	4.666000	0.61554	0.295000	0.22570	-0.361000	0.07541	ATC	.	.	none		0.517	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525640	T	C	248525640	3	2	36	1	0	0	0	0	1	0	0	0	11027	1435	50	2	760	2	OR2T4	1	248525640	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	1	248525640	724981	11	23642	480	2								
GPR113	165082	hgsc.bcm.edu	37	chr2	26534617	26534617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcagaaggtggtccagttttCgcagcaccaggctagtaata	12	9	0	1	rs201936475	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:26534617C>T	ENST00000311519.1	-	11	1978	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	GPR113_ENST00000333478.6_Missense_Mutation_p.R461Q|GPR113_ENST00000541401.1_Missense_Mutation_p.R263Q|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R591Q	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	660					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGTTTTCGCAGCACCAG	0.547													C|||	4	0.000798722	0.0	0.0043	5008	,	,		21134	0.0		0.0	False		,,,				2504	0.001				p.R660Q		Atlas-SNP	.											GPR113_ENST00000311519,NS,malignant_melanoma,0,5	GPR113	134	5	0			c.G1979A						PASS	.						49	49	49					2																	26534617		2203	4300	6503	SO:0001583	missense	165082	exon11			AGTTTTCGCAGCA	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1979G>A	2.37:g.26534617C>T	ENSP00000307831:p.Arg660Gln	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	41	12	0.292683	NM_001145168	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.197	-1.048092	0.01981	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.84	-0.949	0.10376	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.02727	0.0082	N	0.00554	-1.385	0.09310	N	0.999999	B;B;B;B	0.18013	0.025;0.02;0.025;0.02	B;B;B;B	0.19148	0.01;0.024;0.019;0.006	T	0.47824	-0.9087	9	0.15499	T	0.54	-0.1341	10.2306	0.43253	0.0:0.4465:0.0:0.5535	.	591;461;660;263	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	Q	263;461;591;660	ENSP00000445729:R263Q;ENSP00000327396:R461Q;ENSP00000388537:R591Q;ENSP00000307831:R660Q	ENSP00000307831:R660Q	R	-	2	0	GPR113	26388121	0.000000	0.05858	0.032000	0.17829	0.051000	0.14879	-1.851000	0.01669	-0.127000	0.11661	-1.110000	0.02074	CGA	C|1.000;T|0.000	0.000	strong		0.547	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		T	26534617	C	T	26534617	3	4	36	1	0	0	0	0	1	0	0	0	6630	884	31	1	1361	1	GPR113	2	26534617	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10		26534617	216664756	12	23643										
PLEKHH2	130271	hgsc.bcm.edu	37	chr2	43919728	43919728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agacaagattatataataagTgtcaagatctggagtcgcta	9	5	2	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:43919728T>C	ENST00000282406.4	+	4	372	c.262T>C	c.(262-264)Tgt>Cgt	p.C88R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	88					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATATAATAAGTGTCAAGATCT	0.313																																					p.C88R		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.T262C						PASS	.						82	88	86					2																	43919728		2203	4300	6503	SO:0001583	missense	130271	exon4			AATAAGTGTCAAG	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.262T>C	2.37:g.43919728T>C	ENSP00000282406:p.Cys88Arg	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	217	41	0.18894	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	T	7.732	0.699411	0.15106	.	.	ENSG00000152527	ENST00000282406	T	0.28895	1.59	5.48	5.48	0.80851	.	0.053195	0.85682	D	0.000000	T	0.38081	0.1027	L	0.48642	1.525	0.80722	D	1	B;P	0.48640	0.437;0.913	B;P	0.53593	0.201;0.73	T	0.08046	-1.0741	10	0.31617	T	0.26	-15.4001	10.7541	0.46225	0.1418:0.0:0.0:0.8582	.	88;88	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	R	88	ENSP00000282406:C88R	ENSP00000282406:C88R	C	+	1	0	PLEKHH2	43773232	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.392000	0.59659	2.077000	0.62373	0.460000	0.39030	TGT	.	.	none		0.313	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		C	43919728	T	C	43919728	3	2	36	1	0	0	0	0	1	0	0	0	12077	1696	59	2	272	2	PLEKHH2	2	43919728	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	17385111	43919728	199279645	13	23644										
MRPL19	9801	hgsc.bcm.edu	37	chr2	75879766	75879766	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agctactttcatccttaggaAtgttatcgaaggacaaggta	9	7	1	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:75879766A>T	ENST00000393909.2	+	4	483	c.458A>T	c.(457-459)aAt>aTt	p.N153I	MRPL19_ENST00000358788.6_Missense_Mutation_p.N153I|MRPL19_ENST00000409374.1_Missense_Mutation_p.N153I	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	153					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						ATCCTTAGGAATGTTATCGAA	0.388																																					p.N153I		Atlas-SNP	.											.	MRPL19	21	.	0			c.A458T						PASS	.						131	117	121					2																	75879766		1846	4091	5937	SO:0001583	missense	9801	exon4			TTAGGAATGTTAT	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.458A>T	2.37:g.75879766A>T	ENSP00000377486:p.Asn153Ile	Somatic	266	0	0		WXS	Illumina HiSeq	Phase_I	229	32	0.139738	NM_014763	Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237813	0.58886	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88718	0.3227	9	0.87932	D	0	-33.2818	13.6754	0.62451	1.0:0.0:0.0:0.0	.	153	P49406	RM19_HUMAN	I	153	.	ENSP00000377486:N153I	N	+	2	0	MRPL19	75733274	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	8.779000	0.91792	2.187000	0.69744	0.528000	0.53228	AAT	.	.	none		0.388	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		T	75879766	A	T	75879766	3	4	36	1	0	0	0	0	1	0	0	0	9784	101	4	5	472	5	MRPL19	2	75879766	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	31960038	75879766	167319607	14	23645										
FAM171B	165215	hgsc.bcm.edu	37	chr2	187559047	187559047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	caacagcagcagcagcagcaGcaacaacaacaacaacagca	7	14	0	0	rs73979342|rs144403657|rs71017336	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:187559047G>A	ENST00000304698.5	+	1	350	c.147G>A	c.(145-147)caG>caA	p.Q49Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	49	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcagcagcaacaacaac	0.632																																					p.Q49Q		Atlas-SNP	.											FAM171B,NS,carcinoma,0,1	FAM171B	146	1	0			c.G147A						PASS	.						23	26	25					2																	187559047		2202	4300	6502	SO:0001819	synonymous_variant	165215	exon1			GCAGCAGCAACAA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.147G>A	2.37:g.187559047G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																			G|0.500;A|0.500	0.500	weak		0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187559047	G	A	187559047	2	1	36	1	0	0	0	0	0	0	0	1	5491	962	34	2		2	FAM171B	2	187559047	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	111679281	187559047	55640326	15	23646										
DNAH7	56171	hgsc.bcm.edu	37	chr2	196651835	196651835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccctaggggtccaaatttccGtctttcttgtaccaaagcat	7	12	2	0	rs200008102	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:196651835G>A	ENST00000312428.6	-	58	10877	c.10777C>T	c.(10777-10779)Cgg>Tgg	p.R3593W	DNAH7_ENST00000409063.1_Missense_Mutation_p.R76W	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3593	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAAATTTCCGTCTTTCTTGT	0.413													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18598	0.0		0.0	False		,,,				2504	0.0				p.R3593W		Atlas-SNP	.											.	DNAH7	512	.	0			c.C10777T						PASS	.						110	103	105					2																	196651835		1906	4145	6051	SO:0001583	missense	56171	exon58			ATTTCCGTCTTTC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10777C>T	2.37:g.196651835G>A	ENSP00000311273:p.Arg3593Trp	Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	198	29	0.146465	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.54	3.846185	0.71603	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.11604	2.76;2.76	4.34	3.43	0.39272	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73369	-0.4004	10	0.87932	D	0	.	13.35	0.60597	0.0:0.0:0.8406:0.1594	.	3593	Q8WXX0	DYH7_HUMAN	W	3593;76	ENSP00000311273:R3593W;ENSP00000386912:R76W	ENSP00000311273:R3593W	R	-	1	2	DNAH7	196360080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.696000	0.47052	1.120000	0.41904	0.555000	0.69702	CGG	G|1.000;A|0.000	0.000	strong		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196651835	G	A	196651835	3	1	36	1	0	0	0	0	1	0	0	0	4606	1144	40	1	1329	1	DNAH7	2	196651835	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	9092788	196651835	46547538	16	23647										
TNS1	7145	hgsc.bcm.edu	37	chr2	218712997	218712997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcagctggggttcagcttccGaaaaggattgagagcggaac	15	8	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr2:218712997G>A	ENST00000171887.4	-	17	2320	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.S623L|TNS1_ENST00000430930.1_Missense_Mutation_p.S623L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	623					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCAGCTTCCGAAAAGGATTG	0.652																																					p.S623L		Atlas-SNP	.											.	TNS1	251	.	0			c.C1868T						PASS	.						53	45	47					2																	218712997		2202	4300	6502	SO:0001583	missense	7145	exon17			GCTTCCGAAAAGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1868C>T	2.37:g.218712997G>A	ENSP00000171887:p.Ser623Leu	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	61	9	0.147541	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053240	0.36181	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.81;-2.82;-2.82;-3.3	4.57	4.57	0.56435	.	0.441217	0.24465	N	0.038288	D	0.86070	0.5845	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.23891	0.036;0.0;0.093;0.059;0.059	B;B;B;B;B	0.15870	0.009;0.001;0.014;0.01;0.006	T	0.82955	-0.0200	10	0.48119	T	0.1	.	17.539	0.87842	0.0:0.0:1.0:0.0	.	623;677;623;623;623	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	623;623;623;748	ENSP00000171887:S623L;ENSP00000408724:S623L;ENSP00000406016:S623L;ENSP00000405460:S748L	ENSP00000171887:S623L	S	-	2	0	TNS1	218421242	0.980000	0.34600	0.937000	0.37676	0.979000	0.70002	1.802000	0.38853	2.370000	0.80446	0.561000	0.74099	TCG	.	.	none		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218712997	G	A	218712997	3	1	36	1	0	0	0	0	1	0	0	0	16340	1059	37	1	3407	1	TNS1	2	218712997	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	22061162	218712997	24486376	17	23648										
PLCL2	23228	hgsc.bcm.edu	37	chr3	17051505	17051505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gtgcgttttccgtcatatatGgagagaattatgagtcactg	11	6	2	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:17051505G>A	ENST00000418129.2	+	2	754	c.289G>A	c.(289-291)Gga>Aga	p.G97R	PLCL2_ENST00000432376.1_Missense_Mutation_p.G97R|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.G97R	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	223					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGTCATATATGGAGAGAATTA	0.418																																					p.G97R		Atlas-SNP	.											.	PLCL2	145	.	0			c.G289A						PASS	.						123	123	123					3																	17051505		2203	4300	6503	SO:0001583	missense	23228	exon2			ATATATGGAGAGA	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.289G>A	3.37:g.17051505G>A	ENSP00000409637:p.Gly97Arg	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	107	11	0.102804	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283509	0.59867	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.66099	-0.19;-0.19;-0.19	5.33	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.045302	0.85682	D	0.000000	T	0.79782	0.4505	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82520	-0.0416	9	0.59425	D	0.04	.	15.4192	0.74997	0.0:0.0:0.8598:0.1402	.	223;97	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	R	97;224;97;97	ENSP00000409637:G97R;ENSP00000379979:G97R;ENSP00000412836:G97R	ENSP00000285094:G224R	G	+	1	0	PLCL2	17026509	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.869000	0.99810	1.240000	0.43803	0.561000	0.74099	GGA	.	.	none		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			A	17051505	G	A	17051505	3	1	36	1	0	0	0	0	1	0	0	0	12040	1349	47	2	667	2	PLCL2	3	17051505	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		17051505	180970925	18	23649										
LIMD1	8994	hgsc.bcm.edu	37	chr3	45636379	45636379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	acctgtctgcagcatggataAgtatgacgacctgggcctgg	13	10	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:45636379A>T	ENST00000273317.4	+	1	29	c.8A>T	c.(7-9)aAg>aTg	p.K3M	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Missense_Mutation_p.K3M|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	3					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGCATGGATAAGTATGACGAC	0.557																																					p.K3M		Atlas-SNP	.											.	LIMD1	34	.	0			c.A8T						PASS	.						68	71	70					3																	45636379		2203	4300	6503	SO:0001583	missense	8994	exon1			TGGATAAGTATGA	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.8A>T	3.37:g.45636379A>T	ENSP00000273317:p.Lys3Met	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	73	8	0.109589	NM_014240	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630201	0.67015	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.71103	-0.54;-0.3	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	N	0.19112	0.55	0.43936	D	0.996592	D	0.71674	0.998	D	0.77557	0.99	T	0.74003	-0.3804	10	0.87932	D	0	.	9.5521	0.39317	0.8229:0.177:0.0:0.0	.	3	Q9UGP4	LIMD1_HUMAN	M	3	ENSP00000394537:K3M;ENSP00000273317:K3M	ENSP00000273317:K3M	K	+	2	0	LIMD1	45611383	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.879000	0.75572	1.520000	0.48965	0.379000	0.24179	AAG	.	.	none		0.557	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		T	45636379	A	T	45636379	3	4	36	1	0	0	0	0	1	0	0	0	8798	72	3	5	10	5	LIMD1	3	45636379	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	28584874	45636379	152386051	19	23650										
MST1R	4486	hgsc.bcm.edu	37	chr3	49940010	49940010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cacaaagaccccaaatagtaCttcctggccctcggcgatgc	8	15	0	1	rs367549694		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:49940010C>T	ENST00000296474.3	-	1	1060	c.1033G>A	c.(1033-1035)Gta>Ata	p.V345I	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.V345I|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	345	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCAAATAGTACTTCCTGGCCC	0.617																																					p.V345I		Atlas-SNP	.											.	MST1R	205	.	0			c.G1033A						PASS	.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	146	143	144		1033	4.9	1	3		144	0,8600		0,0,4300	no	missense	MST1R	NM_002447.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	345/1401	49940010	1,13005	2203	4300	6503	SO:0001583	missense	4486	exon1			ATAGTACTTCCTG	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1033G>A	3.37:g.49940010C>T	ENSP00000296474:p.Val345Ile	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	112	18	0.160714	NM_001244937	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834437	0.50951	2.27E-4	0.0	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.13420	2.59;2.59	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.057844	0.64402	D	0.000002	T	0.23410	0.0566	L	0.32530	0.975	0.43439	D	0.995613	P;D;P;P;D	0.76494	0.867;0.996;0.867;0.867;0.999	P;D;P;P;D	0.85130	0.47;0.99;0.47;0.673;0.997	T	0.01545	-1.1328	10	0.02654	T	1	-18.159	17.7272	0.88368	0.0:1.0:0.0:0.0	.	345;345;345;345;345	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	I	345	ENSP00000296474:V345I;ENSP00000341325:V345I	ENSP00000296474:V345I	V	-	1	0	MST1R	49915014	0.976000	0.34144	0.994000	0.49952	0.660000	0.38997	2.258000	0.43249	2.268000	0.75426	0.561000	0.74099	GTA	.	.	weak		0.617	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			T	49940010	C	T	49940010	3	4	36	1	0	0	0	0	1	0	0	0	9891	565	20	2	3249	2	MST1R	3	49940010	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	4303631	49940010	148082420	20	23651										
EPHA6	285220	hgsc.bcm.edu	37	chr3	96706499	96706499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccagatggatttgggtgatcGcatcctcaaactcaacactg	9	11	2	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:96706499G>A	ENST00000389672.5	+	3	814	c.776G>A	c.(775-777)cGc>cAc	p.R259H	EPHA6_ENST00000470610.2_Missense_Mutation_p.R259H|EPHA6_ENST00000542517.1_Missense_Mutation_p.R165H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	165						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGGTGATCGCATCCTCAAA	0.443																																					p.R259H		Atlas-SNP	.											EPHA6_ENST00000389672,colon,carcinoma,+1,9	EPHA6	439	9	0			c.G776A						PASS	.						203	209	207					3																	96706499		1900	4141	6041	SO:0001583	missense	285220	exon3			GTGATCGCATCCT	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.776G>A	3.37:g.96706499G>A	ENSP00000374323:p.Arg259His	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	155	28	0.180645	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677321	0.88445	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.03920	3.76;3.76;3.76	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000013	T	0.30665	0.0772	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.24476	-1.0159	10	0.87932	D	0	.	18.3424	0.90309	0.0:0.0:1.0:0.0	.	259;259	B3KS12;E7EU71	.;.	H	259;259;165	ENSP00000420598:R259H;ENSP00000374323:R259H;ENSP00000439758:R165H	ENSP00000374323:R259H	R	+	2	0	EPHA6	98189189	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.554000	0.86153	0.655000	0.94253	CGC	.	.	none		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		A	96706499	G	A	96706499	3	1	36	1	0	0	0	0	1	0	0	0	5171	1087	38	1	786	1	EPHA6	3	96706499	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	46766489	96706499	101315931	21	23652										
OR5H15	403274	hgsc.bcm.edu	37	chr3	97887970	97887970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tgaccaatggactgtgcatcCggctattaatcttgtcatat	8	9	2	1	rs72933946	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:97887970C>T	ENST00000356526.2	+	1	427	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACTGTGCATCCGGCTATTAAT	0.373																																					p.R143W		Atlas-SNP	.											OR5H15,NS,carcinoma,-2,1	OR5H15	70	1	0			c.C427T						scavenged	.						73	72	72					3																	97887970		2203	4297	6500	SO:0001583	missense	403274	exon1			TGCATCCGGCTAT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.427C>T	3.37:g.97887970C>T	ENSP00000373195:p.Arg143Trp	Somatic	392	2	0.00510204		WXS	Illumina HiSeq	Phase_I	543	8	0.014733	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.344	0.063283	0.08388	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00130	8.69	2.48	-0.601	0.11638	GPCR, rhodopsin-like superfamily (1);	1.476590	0.04503	N	0.381661	T	0.00109	0.0003	L	0.34521	1.04	0.09310	N	1	B	0.18166	0.026	B	0.15870	0.014	T	0.19516	-1.0303	10	0.34782	T	0.22	.	3.5209	0.07741	0.0:0.4065:0.1978:0.3956	.	143	A6NDH6	O5H15_HUMAN	W	143	ENSP00000373195:R143W	ENSP00000373195:R143W	R	+	1	2	OR5H15	99370660	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.931000	0.01556	-0.339000	0.08401	-1.206000	0.01644	CGG	C|0.965;A|0.035	.	alt		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			T	97887970	C	T	97887970	3	4	36	1	0	0	0	0	1	0	0	0	11161	643	23	1	429	1	OR5H15	3	97887970	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	1181471	97887970	100134460	22	23653										
CCRL1	51554	hgsc.bcm.edu	37	chr3	132319910	132319910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ggggtgtgctactttatcacAgcaaggacactcatgaagat	11	8	2	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:132319910A>G	ENST00000249887.2	+	2	765	c.669A>G	c.(667-669)acA>acG	p.T223T	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.T223T(1)									ACTTTATCACAGCAAGGACAC	0.388																																					p.T223T		Atlas-SNP	.											CCRL1,NS,carcinoma,0,1	CCRL1	30	1	1	Substitution - coding silent(1)	endometrium(1)	c.A669G						scavenged	.						82	81	81					3																	132319910		2203	4298	6501	SO:0001819	synonymous_variant	51554	exon1			TATCACAGCAAGG	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.669A>G	3.37:g.132319910A>G		Somatic	355	10	0.028169		WXS	Illumina HiSeq	Phase_I	506	20	0.0395257	NM_178445	B2R9U7	Silent	SNP	ENST00000249887.2	37	CCDS3075.1																																																																																			A|0.500;G|0.500	0.500	weak		0.388	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		G	132319910	A	G	132319910	2	3	36	1	0	0	0	0	0	0	0	1	2949	175	7	3		3	CCRL1	3	132319910	Silent	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	34431940	132319910	65702520	23	23654										
PAK2	5062	hgsc.bcm.edu	37	chr3	196529982	196529982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ggctgtgctggatgtcctaaAgttctacgactccaacacag	10	11	1	0	rs78043821	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:196529982A>G	ENST00000327134.3	+	4	705	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	128	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GATGTCCTAAAGTTCTACGAC	0.463																																					p.K128R		Atlas-SNP	.											PAK2_ENST00000327134,NS,lymphoid_neoplasm,0,2	PAK2	113	2	0			c.A383G						PASS	.						107	95	99					3																	196529982		2203	4300	6503	SO:0001583	missense	5062	exon4			TCCTAAAGTTCTA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.383A>G	3.37:g.196529982A>G	ENSP00000314067:p.Lys128Arg	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	84	5	0.0595238	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176399	0.78564	.	.	ENSG00000180370	ENST00000327134	D	0.86230	-2.09	5.27	5.27	0.74061	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.55743	1.74	0.80722	D	1	P	0.37015	0.578	B	0.43155	0.41	D	0.86926	0.2070	10	0.48119	T	0.1	.	14.3609	0.66771	1.0:0.0:0.0:0.0	.	128	Q13177	PAK2_HUMAN	R	128	ENSP00000314067:K128R	ENSP00000314067:K128R	K	+	2	0	PAK2	198014379	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	6.986000	0.76200	2.002000	0.58637	0.460000	0.39030	AAG	A|0.915;G|0.084	0.084	strong		0.463	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196529982	A	G	196529982	3	3	36	1	0	0	0	0	1	0	0	0	11401	72	3	3	393	3	PAK2	3	196529982	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	64210072	196529982	1492448	24	23655										
PAK2	5062	hgsc.bcm.edu	37	chr3	196530022	196530022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gtgaagcagaaatatctgagCtttactcctcctggtaagag	10	8	1	4	rs115224945	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																					p.S141S		Atlas-SNP	.											PAK2_ENST00000327134,rectum,carcinoma,0,2	PAK2	113	2	0			c.C423T						scavenged	.						85	79	81					3																	196530022		2203	4300	6503	SO:0001819	synonymous_variant	5062	exon4			TCTGAGCTTTACT	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T		Somatic	32	1	0.03125		WXS	Illumina HiSeq	Phase_I	68	5	0.0735294	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																			C|0.986;T|0.015	0.015	strong		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196530022	C	T	196530022	2	4	36	1	0	0	0	0	0	0	0	1	11401	796	28	2		2	PAK2	3	196530022	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	40	196530022	1492408	25	23656										
ANKRD50	57182	hgsc.bcm.edu	37	chr4	125590963	125590963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agaactaaaagcatgagtagGcccattaggtaaaccacgta	9	8	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr4:125590963G>A	ENST00000504087.1	-	4	4506	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P978S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1157	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATGAGTAGGCCCATTAGGT	0.403																																					p.P1157S		Atlas-SNP	.											.	ANKRD50	136	.	0			c.C3469T						PASS	.						128	125	126					4																	125590963		2203	4300	6503	SO:0001583	missense	57182	exon4			GAGTAGGCCCATT	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3469C>T	4.37:g.125590963G>A	ENSP00000425658:p.Pro1157Ser	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	72	11	0.152778	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425738	0.43020	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66638	-0.22;-0.2	5.19	5.19	0.71726	.	0.052846	0.85682	D	0.000000	T	0.69833	0.3155	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61192	-0.7112	10	0.06757	T	0.87	.	18.8923	0.92410	0.0:0.0:1.0:0.0	.	1157	Q9ULJ7	ANR50_HUMAN	S	1157;978	ENSP00000425658:P1157S;ENSP00000425355:P978S	ENSP00000425658:P1157S	P	-	1	0	ANKRD50	125810413	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	9.060000	0.93907	2.698000	0.92095	0.561000	0.74099	CCT	.	.	none		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		A	125590963	G	A	125590963	3	1	36	1	0	0	0	0	1	0	0	0	677	1203	42	2	824	2	ANKRD50	4	125590963	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		125590963	65563313	26	23657										
GYPA	2994	hgsc.bcm.edu	37	chr4	145041720	145041720	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	7	10	2	1	rs7682260	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr4:145041720A>G	ENST00000283126.7	-	1	93				GYPA_ENST00000360771.4_Missense_Mutation_p.L20S|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.L20S|GYPA_ENST00000535709.1_5'UTR|GYPA_ENST00000512064.1_Missense_Mutation_p.L20S|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.L20S			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353													G|||	1428	0.285144	0.1944	0.3545	5008	,	,		12360	0.3125		0.2813	False		,,,				2504	0.3344				p.L20S		Atlas-SNP	.											GYPA,NS,carcinoma,0,1	GYPA	27	1	0			c.T59C						scavenged	.	G	SER/LEU	737,3513		243,251,1631	57	30	39		59	-3.4	0	4	dbSNP_116	39	1997,6329		706,585,2872	no	missense	GYPA	NM_002099.6	145	949,836,4503	GG,GA,AA		23.9851,17.3412,21.7398	benign	20/151	145041720	2734,9842	2125	4163	6288	SO:0001627	intron_variant	2993	exon2			GTACTTAATGCTG		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+20031T>C	4.37:g.145041720A>G		Somatic	50	49	0.98		WXS	Illumina HiSeq	Phase_I	72	70	0.972222	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	G	2.787	-0.252207	0.05829	0.173412	0.239851	ENSG00000170180	ENST00000360771;ENST00000512064;ENST00000504786;ENST00000503627;ENST00000394119	T;T;T;T	0.04809	4.59;4.61;4.54;3.55	1.71	-3.42	0.04825	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46555	-0.9183	7	0.52906	T	0.07	.	0.8306	0.01129	0.3297:0.3169:0.194:0.1595	rs7682260;rs17845377;rs17858231	20;20;20	E9PD10;E7EQF3;Q16336	.;.;.	S	20	ENSP00000354003:L20S;ENSP00000426130:L20S;ENSP00000425549:L20S;ENSP00000421243:L20S	ENSP00000354003:L20S	L	-	2	0	GYPA	145261170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-2.458000	0.00538	-2.395000	0.00226	TTA	A|0.519;G|0.481	0.481	strong		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		G	145041720	A	G	145041720	1	3	36	0	1	0	0	0	0	0	0	0	6908	372	13	2		2	GYPA	4	145041720	Intron	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	19450757	145041720	46112556	27	23658										
AGA	175	hgsc.bcm.edu	37	chr4	178355570	178355570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	catcaatatatcaccattccCagtggctgcggctgcccctg	8	15	2	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr4:178355570C>T	ENST00000264595.2	-	7	899	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	258	Substrate binding.				protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCACCATTCCCAGTGGCTGCG	0.443																																					p.G258R		Atlas-SNP	.											.	AGA	39	.	0			c.G772A						PASS	.						118	116	117					4																	178355570		2203	4300	6503	SO:0001583	missense	175	exon7			CATTCCCAGTGGC	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.772G>A	4.37:g.178355570C>T	ENSP00000264595:p.Gly258Arg	Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	213	18	0.084507	NM_000027	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756271	0.69648	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.98822	-5.16;-5.16	5.68	5.68	0.88126	.	0.048505	0.85682	D	0.000000	D	0.99603	0.9856	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97590	1.0116	10	0.87932	D	0	-28.7267	19.3909	0.94583	0.0:1.0:0.0:0.0	.	258	P20933	ASPG_HUMAN	R	258;115	ENSP00000264595:G258R;ENSP00000423798:G115R	ENSP00000264595:G258R	G	-	1	0	AGA	178592564	1.000000	0.71417	0.483000	0.27378	0.099000	0.18886	7.350000	0.79385	2.695000	0.91970	0.650000	0.86243	GGG	.	.	none		0.443	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		T	178355570	C	T	178355570	3	4	36	1	0	0	0	0	1	0	0	0	365	594	21	2	280	2	AGA	4	178355570	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	33313850	178355570	12798706	28	23659										
AHRR	57491	hgsc.bcm.edu	37	chr5	427978	427978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ggacagaagaagaaggcgccGtcaggagccatgctcccgcc	14	13	1	3	rs371473301		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:427978G>A	ENST00000505113.1	+	8	821	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AHRR_ENST00000316418.5_Silent_p.P277P|AHRR_ENST00000512529.1_Silent_p.P105P|AHRR_ENST00000506456.1_Silent_p.P115P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	259					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGAAGGCGCCGTCAGGAGCCA	0.557																																					p.P277P		Atlas-SNP	.											.	AHRR	67	.	0			c.G831A						PASS	.		,	0,3748		0,0,1874	25	29	27		777,831	-9.8	0	5		27	2,8210		0,2,4104	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,2,5978	AA,AG,GG		0.0244,0.0,0.0167	,	259/702,277/720	427978	2,11958	1874	4106	5980	SO:0001819	synonymous_variant	57491	exon9			GGCGCCGTCAGGA	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.777G>A	5.37:g.427978G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	93	22	0.236559	NM_020731	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																			.	.	weak		0.557	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		A	427978	G	A	427978	2	1	36	1	0	0	0	0	0	0	0	1	417	1132	40	1		1	AHRR	5	427978	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		427978	180487282	29	23660										
ADAMTS19	171019	hgsc.bcm.edu	37	chr5	128863470	128863470	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cttttccaacacaagagtctGagtgtgcaggtcaatcttcg	9	10	3	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:128863470G>C	ENST00000274487.4	+	5	1243	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	366	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAAGAGTCTGAGTGTGCAGG	0.308																																					p.L366L		Atlas-SNP	.											ADAMTS19,NS,carcinoma,+2,1	ADAMTS19	216	1	0			c.G1098C						PASS	.						86	91	89					5																	128863470		2203	4300	6503	SO:0001819	synonymous_variant	171019	exon5			GAGTCTGAGTGTG	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1098G>C	5.37:g.128863470G>C		Somatic	369	0	0		WXS	Illumina HiSeq	Phase_I	399	18	0.0451128	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																			.	.	none		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		C	128863470	G	C	128863470	2	2	36	1	0	0	0	0	0	0	0	1	264	1277	45	4		4	ADAMTS19	5	128863470	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	128435492	128863470	52051790	30	23661										
PCDHA2	56146	hgsc.bcm.edu	37	chr5	140174824	140174824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tgtgaattctcggatcgaccGggaggagctgtgcgggcgga	18	8	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:140174824G>A	ENST00000526136.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R92Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R92Q	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.587																																					p.R92Q		Atlas-SNP	.											.	PCDHA2	404	.	0			c.G275A						PASS	.						103	119	114					5																	140174824		2203	4300	6503	SO:0001583	missense	56146	exon1			TCGACCGGGAGGA	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.275G>A	5.37:g.140174824G>A	ENSP00000431748:p.Arg92Gln	Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	86	13	0.151163	NM_031495	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.752294	0.89753	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.63;0.63;0.63	3.98	3.02	0.34903	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.38381	U	0.001708	T	0.81716	0.4881	H	0.99740	4.74	0.32371	N	0.555858	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.89310	0.3632	10	0.87932	D	0	.	14.2561	0.66053	0.0:0.1501:0.8499:0.0	.	92;92;92	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	Q	92	ENSP00000430584:R92Q;ENSP00000367372:R92Q;ENSP00000431748:R92Q	ENSP00000367372:R92Q	R	+	2	0	PCDHA2	140155008	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.604000	0.82830	2.234000	0.73211	0.644000	0.83932	CGG	.	.	none		0.587	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140174824	G	A	140174824	3	1	36	1	0	0	0	0	1	0	0	0	11524	1116	39	1	277	1	PCDHA2	5	140174824	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	11311354	140174824	40740436	31	23662										
PCDHA10	56139	hgsc.bcm.edu	37	chr5	140236219	140236219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aattcccagtgcttgttctgCggaagctgctggatcgtgaa	12	9	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:140236219C>T	ENST00000307360.5	+	1	586	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R196W	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTTCTGCGGAAGCTGCT	0.393																																					p.R196W		Atlas-SNP	.											.	PCDHA10	358	.	0			c.C586T						PASS	.						88	90	90					5																	140236219		2196	4267	6463	SO:0001583	missense	56139	exon1			GTTCTGCGGAAGC	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.586C>T	5.37:g.140236219C>T	ENSP00000304234:p.Arg196Trp	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	171	26	0.152047	NM_031859	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465536	0.26335	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.21031	2.03;2.03	4.45	-3.91	0.04168	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25938	0.0632	M	0.85197	2.74	0.09310	N	1	B;B;B	0.33919	0.432;0.137;0.111	B;B;B	0.31290	0.127;0.015;0.03	T	0.34825	-0.9813	9	0.72032	D	0.01	.	10.9471	0.47306	0.6677:0.1603:0.1719:0.0	.	196;196;196	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	W	196	ENSP00000421030:R196W;ENSP00000304234:R196W	ENSP00000304234:R196W	R	+	1	2	PCDHA10	140216403	0.000000	0.05858	0.336000	0.25522	0.972000	0.66771	-1.579000	0.02123	-0.500000	0.06614	0.561000	0.74099	CGG	.	.	none		0.393	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140236219	C	T	140236219	3	4	36	1	0	0	0	0	1	0	0	0	11520	759	27	1	588	1	PCDHA10	5	140236219	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	61395	140236219	40679041	32	23663										
PCDHB1	29930	hgsc.bcm.edu	37	chr5	140431538	140431538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cagagcgcccaggatctggaCgtgggccttaacggtctcca	13	13	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:140431538C>T	ENST00000306549.3	+	1	560	c.483C>T	c.(481-483)gaC>gaT	p.D161D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGATCTGGACGTGGGCCTTA	0.547																																					p.D161D		Atlas-SNP	.											.	PCDHB1	148	.	0			c.C483T						PASS	.						47	49	48					5																	140431538		2203	4300	6503	SO:0001819	synonymous_variant	29930	exon1			TCTGGACGTGGGC	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.483C>T	5.37:g.140431538C>T		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	96	18	0.1875	NM_013340	Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																			.	.	none		0.547	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		T	140431538	C	T	140431538	2	4	36	1	0	0	0	0	0	0	0	1	11534	535	19	1		1	PCDHB1	5	140431538	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	195319	140431538	40483722	33	23664										
C1QTNF2	114898	hgsc.bcm.edu	37	chr5	159781844	159781844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tttgccaggaaagcccattcGtcccatcattcctgagggcc	9	14	1	1	rs144600396		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr5:159781844G>A	ENST00000393975.3	-	2	313	c.310C>T	c.(310-312)Cga>Tga	p.R104*		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	59	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCCATTCGTCCCATCATT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		9581	0.0		0.0	False		,,,				2504	0.001				p.R104X		Atlas-SNP	.											.	C1QTNF2	33	.	0			c.C310T						PASS	.	G	stop/ARG	0,4406		0,0,2203	28	25	26		310	2.6	1	5	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C1QTNF2	NM_031908.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		104/331	159781844	1,13005	2203	4300	6503	SO:0001587	stop_gained	114898	exon2			CCATTCGTCCCAT	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.310C>T	5.37:g.159781844G>A	ENSP00000377545:p.Arg104*	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	68	10	0.147059	NM_031908		Nonsense_Mutation	SNP	ENST00000393975.3	37	CCDS4351.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860499	0.91433	0.0	1.16E-4	ENSG00000145861	ENST00000393975	.	.	.	5.16	2.62	0.31277	.	0.300113	0.33515	N	0.004835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7246	0.46061	0.0:0.0:0.3199:0.6801	.	.	.	.	X	104	.	ENSP00000377545:R104X	R	-	1	2	C1QTNF2	159714422	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	1.207000	0.32333	0.802000	0.34089	0.313000	0.20887	CGA	G|1.000;A|0.000	0.000	strong		0.662	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			A	159781844	G	A	159781844	4	1	36	1	0	0	0	0	0	1	0	0	1963	1153	40	1	690	1	C1QTNF2	5	159781844	Nonsense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	19350306	159781844	21133416	34	23665										
HIST1H1B	3009	hgsc.bcm.edu	37	chr6	27835042	27835042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gggtgcccttgctcaccaagCtcttgaggcccagcttaatg	11	13	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr6:27835042C>T	ENST00000331442.3	-	1	317	c.266G>A	c.(265-267)aGc>aAc	p.S89N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	89	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTCACCAAGCTCTTGAGGCC	0.577																																					p.S89N		Atlas-SNP	.											.	HIST1H1B	54	.	0			c.G266A						PASS	.						130	141	138					6																	27835042		2203	4300	6503	SO:0001583	missense	3009	exon1			ACCAAGCTCTTGA	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.266G>A	6.37:g.27835042C>T	ENSP00000330074:p.Ser89Asn	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	151	27	0.178808	NM_005322	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550368	0.65311	.	.	ENSG00000184357	ENST00000331442	T	0.09630	2.96	5.43	5.43	0.79202	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.352440	0.35615	N	0.003089	T	0.12518	0.0304	L	0.45422	1.42	0.37742	D	0.925646	P	0.38048	0.616	P	0.51355	0.667	T	0.00855	-1.1539	10	0.54805	T	0.06	-25.9517	14.2524	0.66028	0.0:0.8513:0.1487:0.0	.	89	P16401	H15_HUMAN	N	89	ENSP00000330074:S89N	ENSP00000330074:S89N	S	-	2	0	HIST1H1B	27943021	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	1.955000	0.40372	2.716000	0.92895	0.655000	0.94253	AGC	.	.	none		0.577	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		T	27835042	C	T	27835042	3	4	36	1	0	0	0	0	1	0	0	0	7123	797	28	2	418	2	HIST1H1B	6	27835042	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10		27835042	143280025	35	23666										
ABCF1	23	hgsc.bcm.edu	37	chr6	30553108	30553108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cctggacctcaacgctgtcaTctggcttaataagtgcgtta	9	11	3	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr6:30553108T>A	ENST00000326195.8	+	15	1575	c.1463T>A	c.(1462-1464)aTc>aAc	p.I488N	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Missense_Mutation_p.I450N|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	488	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AACGCTGTCATCTGGCTTAAT	0.557																																					p.I488N		Atlas-SNP	.											.	ABCF1	61	.	0			c.T1463A						PASS	.						210	153	173					6																	30553108		1511	2709	4220	SO:0001583	missense	23	exon15			CTGTCATCTGGCT	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1463T>A	6.37:g.30553108T>A	ENSP00000313603:p.Ile488Asn	Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	109	24	0.220183	NM_001025091	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337644	0.81911	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.90620	-2.5;-2.7	5.01	5.01	0.66863	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.053150	0.85682	D	0.000000	D	0.90748	0.7096	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.984;0.961;0.961	D	0.92519	0.6023	10	0.87932	D	0	-18.381	13.843	0.63451	0.0:0.0:0.0:1.0	.	450;488;488	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	N	488;450	ENSP00000313603:I488N;ENSP00000365728:I450N	ENSP00000313603:I488N	I	+	2	0	ABCF1	30661087	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	7.367000	0.79558	2.107000	0.64212	0.379000	0.24179	ATC	.	.	none		0.557	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			A	30553108	T	A	30553108	3	1	36	1	0	0	0	0	1	0	0	0	65	1435	50	5	1521	5	ABCF1	6	30553108	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	2718066	30553108	140561959	36	23667										
MUC21	394263	hgsc.bcm.edu	37	chr6	30954414	30954414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agcacagccaccaactctgaCtccagcacaacctccagtga	6	17	1	2	rs138015704	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr6:30954414C>G	ENST00000376296.3	+	2	703	c.462C>G	c.(460-462)gaC>gaG	p.D154E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	154	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D154E(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAACTCTGACTCCAGCACAA	0.612																																					p.D154E		Atlas-SNP	.											MUC21,NS,carcinoma,0,2	MUC21	98	2	1	Substitution - Missense(1)	prostate(1)	c.C462G						scavenged	.						150	141	144					6																	30954414		2203	4300	6503	SO:0001583	missense	394263	exon2			CTCTGACTCCAGC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.462C>G	6.37:g.30954414C>G	ENSP00000365473:p.Asp154Glu	Somatic	28	1	0.0357143		WXS	Illumina HiSeq	Phase_I	28	5	0.178571	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859428	0.00552	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01572	4.76	3.52	-7.04	0.01578	.	.	.	.	.	T	0.00178	0.0005	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35276	-0.9795	8	.	.	.	2.0437	7.1844	0.25791	0.108:0.4767:0.3341:0.0812	.	154	Q5SSG8	MUC21_HUMAN	E	154	ENSP00000365473:D154E	.	D	+	3	2	MUC21	31062393	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.637000	0.00407	-4.956000	0.00026	-2.421000	0.00218	GAC	C|0.993;G|0.007	0.007	strong		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954414	C	G	30954414	3	3	36	1	0	0	0	0	1	0	0	0	9977	564	20	4	468	4	MUC21	6	30954414	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	401306	30954414	140160653	37	23668										
COL9A1	1297	hgsc.bcm.edu	37	chr6	70991128	70991128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcctggaactccaggggggcCcggaggcccgggaggaccct	18	14	0	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr6:70991128C>A	ENST00000357250.6	-	8	999	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	COL9A1_ENST00000320755.7_Missense_Mutation_p.G38C|COL9A1_ENST00000370499.4_Missense_Mutation_p.G38C|COL9A1_ENST00000370496.3_Missense_Mutation_p.G281C|COL9A1_ENST00000489611.1_5'Flank	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	281	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGGGGCCCGGAGGCCCG	0.597																																					p.G281C		Atlas-SNP	.											COL9A1_ENST00000320755,NS,carcinoma,+1,2	COL9A1	228	2	0			c.G841T						PASS	.						22	26	25					6																	70991128		2203	4300	6503	SO:0001583	missense	1297	exon8			GGGGGCCCGGAGG		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.841G>T	6.37:g.70991128C>A	ENSP00000349790:p.Gly281Cys	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	72	12	0.166667	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923575	0.33908	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.74	5.74	0.90152	.	0.095514	0.64402	D	0.000001	D	0.99802	0.9915	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96865	0.9635	10	0.87932	D	0	.	18.8993	0.92435	0.0:1.0:0.0:0.0	.	281;38	P20849;P20849-2	CO9A1_HUMAN;.	C	281;38;38;281	ENSP00000349790:G281C;ENSP00000315252:G38C;ENSP00000359530:G38C;ENSP00000359527:G281C	ENSP00000315252:G38C	G	-	1	0	COL9A1	71047849	0.997000	0.39634	0.196000	0.23383	0.014000	0.08584	5.631000	0.67812	2.722000	0.93159	0.591000	0.81541	GGC	.	.	none		0.597	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70991128	C	A	70991128	3	1	36	1	0	0	0	0	1	0	0	0	3707	623	22	4	2048	4	COL9A1	6	70991128	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	40036714	70991128	100123939	38	23669										
NMBR	4829	hgsc.bcm.edu	37	chr6	142400028	142400028	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tgcatgtccatggggttaacGatggctctgtacctgggaaa	13	8	1	0	rs147371910		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr6:142400028G>T	ENST00000258042.1	-	2	575	c.435C>A	c.(433-435)atC>atA	p.I145I	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	145					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGGGTTAACGATGGCTCTGT	0.458																																					p.I145I		Atlas-SNP	.											.	NMBR	62	.	0			c.C435A						PASS	.						51	43	46					6																	142400028		2203	4300	6503	SO:0001819	synonymous_variant	4829	exon2			GTTAACGATGGCT		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.435C>A	6.37:g.142400028G>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	88	21	0.238636	NM_002511	E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	CCDS5196.1																																																																																			G|1.000;A|0.000	.	alt		0.458	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			T	142400028	G	T	142400028	2	4	36	1	0	0	0	0	0	0	0	1	10487	1048	37	4		4	NMBR	6	142400028	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	71408900	142400028	28715039	39	23670										
SEC61G	23480	hgsc.bcm.edu	37	chr7	54823513	54823513	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	atatggatcaatttcacaaaGaagccaatgaatcccattat	5	8	2	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr7:54823513G>A	ENST00000415949.1	-	4	522	c.156C>T	c.(154-156)ttC>ttT	p.F52F	SEC61G_ENST00000395535.3_Silent_p.F52F|SEC61G_ENST00000450622.1_Silent_p.F52F|SEC61G_ENST00000352861.4_Silent_p.F52F			P60059	SC61G_HUMAN	Sec61 gamma subunit	52					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)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			ATTTCACAAAGAAGCCAATGA	0.313																																					p.F52F		Atlas-SNP	.											.	SEC61G	10	.	0			c.C156T						PASS	.						98	97	98					7																	54823513		2203	4300	6503	SO:0001819	synonymous_variant	23480	exon3			CACAAAGAAGCCA	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.156C>T	7.37:g.54823513G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	80	9	0.1125	NM_001012456	B2R4J0|P38384|Q6IB25	Silent	SNP	ENST00000415949.1	37	CCDS5513.1																																																																																			.	.	none		0.313	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		A	54823513	G	A	54823513	2	1	36	1	0	0	0	0	0	0	0	1	14003	933	33	2		2	SEC61G	7	54823513	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		54823513	104315150	40	23671										
RSBN1L	222194	hgsc.bcm.edu	37	chr7	77378893	77378893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tctgctcaggattgctaactGatgttgaagatcaagcagcc	10	9	3	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr7:77378893G>A	ENST00000334955.8	+	3	883	c.856G>A	c.(856-858)Gat>Aat	p.D286N	RSBN1L_ENST00000445288.1_Missense_Mutation_p.D16N	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	286						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGCTAACTGATGTTGAAGA	0.353																																					p.D286N		Atlas-SNP	.											.	RSBN1L	74	.	0			c.G856A						PASS	.						107	98	101					7																	77378893		1854	4109	5963	SO:0001583	missense	222194	exon3			CTAACTGATGTTG	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.856G>A	7.37:g.77378893G>A	ENSP00000334040:p.Asp286Asn	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	87	16	0.183908	NM_198467	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147805	0.78001	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	T	0.08193	3.12	5.58	5.58	0.84498	.	0.052712	0.85682	D	0.000000	T	0.20495	0.0493	L	0.43152	1.355	0.33216	D	0.554005	D	0.56968	0.978	D	0.63488	0.915	T	0.05273	-1.0895	10	0.18710	T	0.47	-19.8707	19.578	0.95452	0.0:0.0:1.0:0.0	.	286	Q6PCB5	RSBNL_HUMAN	N	286;16	ENSP00000334040:D286N	ENSP00000334040:D286N	D	+	1	0	RSBN1L	77216829	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.973000	0.76116	2.628000	0.89032	0.655000	0.94253	GAT	.	.	none		0.353	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		A	77378893	G	A	77378893	3	1	36	1	0	0	0	0	1	0	0	0	13697	1290	45	2	866	2	RSBN1L	7	77378893	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	22555380	77378893	81759770	41	23672										
MLL3	58508	hgsc.bcm.edu	37	chr7	151932991	151932991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tcctgcacctcgaggtctccGctttcctggaaatccagacc	8	16	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr7:151932991G>A	ENST00000262189.6	-	16	2898	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGAGGTCTCCGCTTTCCTGGA	0.507																																					p.R894W		Atlas-SNP	.											MLL3_ENST00000355193,NS,malignant_melanoma,+2,4	MLL3	1564	4	0			c.C2680T						scavenged	.						32	34	33					7																	151932991		2203	4295	6498	SO:0001583	missense	58508	exon16			GTCTCCGCTTTCC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2680C>T	7.37:g.151932991G>A	ENSP00000262189:p.Arg894Trp	Somatic	129	5	0.0387597		WXS	Illumina HiSeq	Phase_I	145	8	0.0551724	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.896744|2.896744	0.52121|0.52121	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.89875	.|-2.57;-2.58	5.1|5.1	2.1|2.1	0.27182|0.27182	.|.	.|0.000000	.|0.42294	.|D	.|0.000721	D|D	0.91952|0.91952	0.7451|0.7451	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	D|D	0.91065|0.91065	0.4888|0.4888	5|10	.|0.87932	.|D	.|0	.|.	9.9957|9.9957	0.41898|0.41898	0.0:0.1323:0.5941:0.2736|0.0:0.1323:0.5941:0.2736	.|.	.|894	.|Q8NEZ4	.|MLL3_HUMAN	V|W	49|894	.|ENSP00000262189:R894W;ENSP00000347325:R894W	.|ENSP00000262189:R894W	A|R	-|-	2|1	0|2	MLL3|MLL3	151563924|151563924	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.946000|0.946000	0.59487|0.59487	2.043000|2.043000	0.41231|0.41231	0.653000|0.653000	0.30826|0.30826	-0.885000|-0.885000	0.02943|0.02943	GCG|CGG	.	.	none		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151932991	G	A	151932991	3	1	36	1	0	0	0	0	1	0	0	0	9622	1086	38	1	12231	1	MLL3	7	151932991	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	74554098	151932991	7205672	42	23673										
DOCK5	80005	hgsc.bcm.edu	37	chr8	25230091	25230091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccaggctcctagaacattgcCggaaacacaaatacctctcc	6	15	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr8:25230091C>T	ENST00000276440.7	+	35	3585	c.3541C>T	c.(3541-3543)Cgg>Tgg	p.R1181W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1181					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAACATTGCCGGAAACACAA	0.552																																					p.R1181W	Pancreas(145;34 1887 3271 10937 30165)	Atlas-SNP	.											.	DOCK5	167	.	0			c.C3541T						PASS	.						68	65	66					8																	25230091		2203	4300	6503	SO:0001583	missense	80005	exon35			CATTGCCGGAAAC		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3541C>T	8.37:g.25230091C>T	ENSP00000276440:p.Arg1181Trp	Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	64	9	0.140625	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.987709|3.987709	0.74589|0.74589	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.67523	.|-0.27	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80025|0.80025	0.4548|0.4548	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;D	.|0.65684	.|0.937;0.889;0.937	T|T	0.81722|0.81722	-0.0803|-0.0803	5|10	.|0.72032	.|D	.|0.01	.|.	15.8389|15.8389	0.78824|0.78824	0.1362:0.8638:0.0:0.0|0.1362:0.8638:0.0:0.0	.|.	.|1171;956;1181	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	L|W	952|1181	.|ENSP00000276440:R1181W	.|ENSP00000276440:R1181W	P|R	+|+	2|1	0|2	DOCK5|DOCK5	25286008|25286008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.952000|1.952000	0.40343|0.40343	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	CCG|CGG	.	.	none		0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25230091	C	T	25230091	3	4	36	1	0	0	0	0	1	0	0	0	4690	643	23	1	3679	1	DOCK5	8	25230091	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10		25230091	121133931	43	23674										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52252217	52252217	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gctgtgatggtttcctgaatTtccgctgcaaacgtgctgaa	11	9	0	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr8:52252217T>A	ENST00000356297.4	-	21	4213	c.4113A>T	c.(4111-4113)gaA>gaT	p.E1371D	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1371					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)				TTTCCTGAATTTCCGCTGCAA	0.373																																					p.E1371D		Atlas-SNP	.											.	PXDNL	414	.	0			c.A4113T						PASS	.						139	136	137					8																	52252217		1879	4103	5982	SO:0001583	missense	137902	exon21			CTGAATTTCCGCT		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.4113A>T	8.37:g.52252217T>A	ENSP00000348645:p.Glu1371Asp	Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	138	19	0.137681	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.130|8.130	0.782774|0.782774	0.16189|0.16189	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.64803|.	-0.12|.	5.0|5.0	2.54|2.54	0.30619|0.30619	.|.	.|.	.|.	.|.	.|.	T|T	0.35068|0.35068	0.0919|0.0919	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.05517|0.05517	-1.0880|-1.0880	9|5	0.45353|.	T|.	0.12|.	.|.	4.3388|4.3388	0.11099|0.11099	0.174:0.0969:0.0:0.7291|0.174:0.0969:0.0:0.7291	.|.	1371|.	A1KZ92|.	PXDNL_HUMAN|.	D|I	1371|445	ENSP00000348645:E1371D|.	ENSP00000348645:E1371D|.	E|K	-|-	3|2	2|0	PXDNL|PXDNL	52414770|52414770	0.998000|0.998000	0.40836|0.40836	0.935000|0.935000	0.37517|0.37517	0.044000|0.044000	0.14063|0.14063	1.971000|1.971000	0.40530|0.40530	0.224000|0.224000	0.20940|0.20940	0.482000|0.482000	0.46254|0.46254	GAA|AAA	.	.	none		0.373	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52252217	T	A	52252217	3	1	36	1	0	0	0	0	1	0	0	0	12848	1838	64	5	290	5	PXDNL	8	52252217	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	27022126	52252217	94111805	44	23675										
RP1	6101	hgsc.bcm.edu	37	chr8	55533908	55533908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gtcggcgcccgcggccctggCtcagcagccgggccattagc	15	17	1	0	rs147116231	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr8:55533908C>T	ENST00000220676.1	+	2	530	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	128					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGCCCTGGCTCAGCAGCCG	0.697																																					p.L128F	Colon(91;1014 1389 7634 14542 40420)	Atlas-SNP	.											.	RP1	429	.	0			c.C382T						PASS	.						26	33	30					8																	55533908		2194	4294	6488	SO:0001583	missense	6101	exon2			CCCTGGCTCAGCA	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.382C>T	8.37:g.55533908C>T	ENSP00000220676:p.Leu128Phe	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	62	14	0.225806	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211455	0.39102	.	.	ENSG00000104237	ENST00000220676	D	0.87650	-2.28	4.9	4.9	0.64082	Doublecortin domain (1);	0.532611	0.16143	N	0.227643	D	0.88518	0.6458	M	0.63428	1.95	0.42132	D	0.991472	P	0.49961	0.93	P	0.48030	0.564	D	0.86910	0.2060	10	0.27082	T	0.32	0.1336	18.0907	0.89475	0.0:1.0:0.0:0.0	.	128	P56715	RP1_HUMAN	F	128	ENSP00000220676:L128F	ENSP00000220676:L128F	L	+	1	0	RP1	55696461	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.568000	0.45965	2.273000	0.75805	0.650000	0.86243	CTC	C|0.998;A|0.002	.	alt		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55533908	C	T	55533908	3	4	36	1	0	0	0	0	1	0	0	0	13532	797	28	2	384	2	RP1	8	55533908	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	3281691	55533908	90830114	45	23676										
TMEM70	54968	hgsc.bcm.edu	37	chr8	74893545	74893545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ttacggtgatcaccccagtgCtgcttcactttattacaaaa	6	11	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr8:74893545C>T	ENST00000312184.5	+	3	545	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	TMEM70_ENST00000517439.1_3'UTR|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	158					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CACCCCAGTGCTGCTTCACTT	0.393																																					p.L158L		Atlas-SNP	.											.	TMEM70	12	.	0			c.C472T						PASS	.						166	155	158					8																	74893545		2203	4300	6503	SO:0001819	synonymous_variant	54968	exon3			CCAGTGCTGCTTC	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.472C>T	8.37:g.74893545C>T		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	180	19	0.105556	NM_017866	E9PDY9|Q9NWY5	Silent	SNP	ENST00000312184.5	37	CCDS6215.1																																																																																			.	.	none		0.393	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		T	74893545	C	T	74893545	2	4	36	1	0	0	0	0	0	0	0	1	16196	796	28	2		2	TMEM70	8	74893545	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	19359637	74893545	71470477	46	23677										
ZFHX4	79776	hgsc.bcm.edu	37	chr8	77767750	77767750	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aggtctgcgatgacaaatttCtcttttctctcacaagccca	6	12	4	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr8:77767750C>A	ENST00000521891.2	+	10	9041	c.8593C>A	c.(8593-8595)Ctc>Atc	p.L2865I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2820I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2820I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2839I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2820					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)	p.L2849I(1)		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)			TGACAAATTTCTCTTTTCTCT	0.488										HNSCC(33;0.089)																											p.L2865I		Atlas-SNP	.											ZFHX4,caecum,carcinoma,0,2	ZFHX4	878	2	1	Substitution - Missense(1)	large_intestine(1)	c.C8593A						PASS	.						94	96	95					8																	77767750		1969	4146	6115	SO:0001583	missense	79776	exon10			AAATTTCTCTTTT		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.8593C>A	8.37:g.77767750C>A	ENSP00000430497:p.Leu2865Ile	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	41	8	0.195122	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744269	0.15710	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.84;0.81;0.8	5.25	4.35	0.52113	.	0.000000	0.40144	U	0.001178	T	0.31734	0.0806	N	0.22421	0.69	0.25788	N	0.984655	B;B;B	0.22080	0.038;0.064;0.064	B;B;B	0.30251	0.032;0.07;0.113	T	0.20505	-1.0273	10	0.18276	T	0.48	.	8.0132	0.30365	0.2859:0.641:0.0:0.0731	.	2820;2820;2865	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2865;2849;2820;2820;2839	ENSP00000430497:L2865I;ENSP00000399605:L2820I;ENSP00000050961:L2820I;ENSP00000430848:L2839I	ENSP00000050961:L2820I	L	+	1	0	ZFHX4	77930305	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	3.209000	0.51122	1.397000	0.46682	0.561000	0.74099	CTC	.	.	none		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77767750	C	A	77767750	3	1	36	1	0	0	0	0	1	0	0	0	17632	913	32	4	8627	4	ZFHX4	8	77767750	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	2874205	77767750	68596272	47	23678										
TJP2	9414	hgsc.bcm.edu	37	chr9	71836110	71836110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcgcacccgagaccgcagccGtggccggagcctggagcggg	18	15	0	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr9:71836110G>A	ENST00000377245.4	+	5	858	c.650G>A	c.(649-651)cGt>cAt	p.R217H	TJP2_ENST00000265384.7_Missense_Mutation_p.R217H|TJP2_ENST00000535702.1_Missense_Mutation_p.R221H|TJP2_ENST00000348208.4_Missense_Mutation_p.R217H|TJP2_ENST00000539225.1_Missense_Mutation_p.R248H|TJP2_ENST00000453658.2_Missense_Mutation_p.R194H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	217					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GACCGCAGCCGTGGCCGGAGC	0.751																																					p.R248H		Atlas-SNP	.											.	TJP2	120	.	0			c.G743A						PASS	.						10	16	14					9																	71836110		2154	4213	6367	SO:0001583	missense	9414	exon5			GCAGCCGTGGCCG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.650G>A	9.37:g.71836110G>A	ENSP00000366453:p.Arg217His	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	59	9	0.152542	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249862	0.80024	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.11	4.19	0.49359	.	0.100863	0.64402	D	0.000005	T	0.68128	0.2967	M	0.72894	2.215	0.51482	D	0.99992	D;D;D;D;D	0.89917	0.997;1.0;0.988;1.0;0.989	P;D;P;P;P	0.64877	0.892;0.93;0.742;0.891;0.682	T	0.69487	-0.5132	9	.	.	.	.	14.4752	0.67541	0.075:0.0:0.925:0.0	.	248;221;217;217;217	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	194;217;217;217;221;248	ENSP00000392178:R194H;ENSP00000366453:R217H;ENSP00000345893:R217H;ENSP00000265384:R217H;ENSP00000442090:R221H;ENSP00000438262:R248H	.	R	+	2	0	TJP2	71025930	0.885000	0.30320	0.508000	0.27688	0.547000	0.35210	2.779000	0.47734	2.531000	0.85337	0.591000	0.81541	CGT	.	.	none		0.751	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		A	71836110	G	A	71836110	3	1	36	1	0	0	0	0	1	0	0	0	15927	1145	40	1	825	1	TJP2	9	71836110	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		71836110	69377321	48	23679										
PAPPA	5069	hgsc.bcm.edu	37	chr9	119097144	119097144	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ctgtctcccctgacaggcctCcatgtcctgagctgcaggaa	10	15	1	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr9:119097144C>T	ENST00000328252.3	+	13	3771	c.3402C>T	c.(3400-3402)ctC>ctT	p.L1134L	PAPPA_ENST00000534838.1_Silent_p.L172L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1134					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGACAGGCCTCCATGTCCTGA	0.622																																					p.L1134L		Atlas-SNP	.											.	PAPPA	243	.	0			c.C3402T						PASS	.						51	45	47					9																	119097144		2203	4300	6503	SO:0001819	synonymous_variant	5069	exon13			AGGCCTCCATGTC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3402C>T	9.37:g.119097144C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	53	11	0.207547	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																			.	.	none		0.622	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	119097144	C	T	119097144	2	4	36	1	0	0	0	0	0	0	0	1	11432	842	30	2		2	PAPPA	9	119097144	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	47261034	119097144	22116287	49	23680										
FAS	355	hgsc.bcm.edu	37	chr10	90773975	90773975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tggtgtcaatgaagccaaaaTagatgagatcaagaatgaca	10	5	2	5			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr10:90773975T>C	ENST00000355740.2	+	9	996	c.776T>C	c.(775-777)aTa>aCa	p.I259T	FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.I238T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GAAGCCAAAATAGATGAGATC	0.383																																					p.I259T		Atlas-SNP	.											.	FAS	47	.	0			c.T776C	GRCh37	CM033041|CM994522	FAS	M		PASS	.						121	114	116					10																	90773975		2203	4300	6503	SO:0001583	missense	355	exon9			CCAAAATAGATGA	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.776T>C	10.37:g.90773975T>C	ENSP00000347979:p.Ile259Thr	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	66	15	0.227273	NM_000043	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355740.2	37	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717060	0.68844	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.97378	-4.36;-4.36	4.65	4.65	0.58169	Death (3);DEATH-like (2);	0.172999	0.47093	D	0.000242	D	0.98093	0.9371	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98611	1.0663	10	0.87932	D	0	-24.7594	11.0512	0.47893	0.0:0.0:0.0:1.0	.	238;259	P25445-6;P25445	.;TNR6_HUMAN	T	286;259;238	ENSP00000347979:I259T;ENSP00000349896:I238T	ENSP00000347979:I259T	I	+	2	0	FAS	90763955	0.993000	0.37304	0.956000	0.39512	0.989000	0.77384	3.843000	0.55865	2.042000	0.60477	0.528000	0.53228	ATA	.	.	none		0.383	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3			C	90773975	T	C	90773975	3	2	36	1	0	0	0	0	1	0	0	0	5681	1406	49	2	810	2	FAS	10	90773975	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10		90773975	44760772	50	23681										
SLC16A12	387700	hgsc.bcm.edu	37	chr10	91195994	91195994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cacgagcagagggagactttGaagcattgggaggcagagat	16	6	0	4			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr10:91195994G>A	ENST00000341233.4	-	7	1411	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.Q371*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	341						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGGAGACTTTGAAGCATTGGG	0.478																																					p.Q371X		Atlas-SNP	.											.	SLC16A12	40	.	0			c.C1111T						PASS	.						134	112	119					10																	91195994		2203	4300	6503	SO:0001587	stop_gained	387700	exon7			GACTTTGAAGCAT		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1021C>T	10.37:g.91195994G>A	ENSP00000343022:p.Gln341*	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	69	12	0.173913	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Nonsense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	G	39	7.589363	0.98374	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	.	.	.	5.91	5.91	0.95273	.	0.434509	0.27362	N	0.019717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	341;371	.	ENSP00000343022:Q341X	Q	-	1	0	SLC16A12	91185974	0.979000	0.34478	0.987000	0.45799	0.729000	0.41735	3.908000	0.56355	2.793000	0.96121	0.655000	0.94253	CAA	.	.	none		0.478	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		A	91195994	G	A	91195994	4	1	36	1	0	0	0	0	0	1	0	0	14405	1299	45	2	447	2	SLC16A12	10	91195994	Nonsense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	422019	91195994	44338753	51	23682										
TLL2	7093	hgsc.bcm.edu	37	chr10	98170201	98170201	+	Frame_Shift_Del	DEL	C	C	-													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aaccaggtgcagaaaagtttCccgttgtgtcctgcagggtc							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr10:98170201delC	ENST00000357947.3	-	9	1304	c.1079delG	c.(1078-1080)ggafs	p.G360fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	360	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAAAAGTTTCCCGTTGTGTC	0.582																																					p.G360fs		Atlas-Indel	.											TLL2,NS,malignant_melanoma,-2,1	TLL2	122	1	0			c.1080delA						PASS	.						96	85	88					10																	98170201		2203	4300	6503	SO:0001589	frameshift_variant	7093	exon9			.	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1079delG	10.37:g.98170201delC	ENSP00000350630:p.Gly360fs	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	77	13	0.168831	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Del	DEL	ENST00000357947.3	37	CCDS7449.1																																																																																			.	.	none		0.582	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			-	98170201	C	-	98170201	7	5	36	1	0	1	0	1	0	0	0	0	15943	855	30	0	2020	0	TLL2	10	98170201	Frame_Shift_Del	DEL	C	TCGA-GS-A9U3-01A-11D-A38X-10	6974207	98170201	37364546	52	23683										
CNNM2	54805	hgsc.bcm.edu	37	chr10	104679785	104679785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cccctgaaaaccatcaccaaAttttataaccaccccttgca	2	16	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr10:104679785A>G	ENST00000369878.4	+	1	1736	c.1548A>G	c.(1546-1548)aaA>aaG	p.K516K	CNNM2_ENST00000433628.2_Silent_p.K516K|CNNM2_ENST00000369875.3_Silent_p.K516K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	516					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCATCACCAAATTTTATAACC	0.453																																					p.K516K		Atlas-SNP	.											.	CNNM2	119	.	0			c.A1548G						PASS	.						121	131	128					10																	104679785		2203	4300	6503	SO:0001819	synonymous_variant	54805	exon1			CACCAAATTTTAT	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1548A>G	10.37:g.104679785A>G		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	167	9	0.0538922	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	CCDS44474.1																																																																																			.	.	none		0.453	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		G	104679785	A	G	104679785	2	3	36	1	0	0	0	0	0	0	0	1	3613	98	4	2		2	CNNM2	10	104679785	Silent	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	6509584	104679785	30854962	53	23684										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	19	4	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																					p.P2011S		Atlas-SNP	.											MUC6_ENST00000421673,extremity,malignant_melanoma,0,1	MUC6	408	1	1	Substitution - Missense(1)	skin(1)	c.C6031T						scavenged	.																																			SO:0001583	missense	4588	exon31			AGAAAGGTGGAAC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic	430	3	0.00697674		WXS	Illumina HiSeq	Phase_I	447	11	0.0246085	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT	.	.	none		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	36	1	0	0	0	0	1	0	0	0	9980	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		1016770	133989746	54	23685										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	405	53	0.130864		WXS	Illumina HiSeq	Phase_I	433	57	0.13164	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	36	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	298	1017068	133989448	55	23686										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092978	1092978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	accccaaccccaacacccacCggcacacagaccccaaccac	3	24	0	1	rs111170567		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:1092978C>T	ENST00000441003.2	+	30	4824	c.4797C>T	c.(4795-4797)acC>acT	p.T1599T	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	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)	caacacccaccggcacacaga	0.632																																					p.T1599T		Atlas-SNP	.											.	MUC2	614	.	0			c.C4797T						PASS	.						43	80	67					11																	1092978		1784	3257	5041	SO:0001819	synonymous_variant	4583	exon30			ACCCACCGGCACA	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.4797C>T	11.37:g.1092978C>T		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	16	6	0.375	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.	.	weak		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092978	C	T	1092978	2	4	36	1	0	0	0	0	0	0	0	1	9975	639	23	1		1	MUC2	11	1092978	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	75910	1092978	133913538	56	23687										
OR52L1	338751	hgsc.bcm.edu	37	chr11	6007398	6007398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agagccacatgtgctaaacgCcttaagtcgggcctcactcc	9	14	1	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:6007398C>T	ENST00000332249.4	-	1	817	c.763G>A	c.(763-765)Gcg>Acg	p.A255T		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTAAACGCCTTAAGTCGG	0.512																																					p.A255T	Melanoma(121;653 1666 10547 22796 51255)	Atlas-SNP	.											.	OR52L1	100	.	0			c.G763A						PASS	.						160	156	157					11																	6007398		2072	4222	6294	SO:0001583	missense	338751	exon1			TAAACGCCTTAAG	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.763G>A	11.37:g.6007398C>T	ENSP00000330338:p.Ala255Thr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	77	13	0.168831	NM_001005173	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	6.616	0.482107	0.12581	.	.	ENSG00000183313	ENST00000332249	T	0.00357	7.89	3.95	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000558	T	0.00412	0.0013	M	0.79123	2.44	0.31266	N	0.692361	P	0.34955	0.477	B	0.37888	0.26	T	0.25117	-1.0141	10	0.42905	T	0.14	.	14.9281	0.70896	0.0:1.0:0.0:0.0	.	255	Q8NGH7	O52L1_HUMAN	T	255	ENSP00000330338:A255T	ENSP00000330338:A255T	A	-	1	0	OR52L1	5963974	0.522000	0.26266	0.997000	0.53966	0.072000	0.16883	1.327000	0.33746	1.914000	0.55421	0.313000	0.20887	GCG	.	.	none		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		T	6007398	C	T	6007398	3	4	36	1	0	0	0	0	1	0	0	0	11125	739	26	2	230	2	OR52L1	11	6007398	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	4914420	6007398	128999118	57	23688										
RBMXL2	27288	hgsc.bcm.edu	37	chr11	7111164	7111164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ggtcgcgaccgtgactacggGgatcatctgagcagaggctc	15	11	2	3	rs138708788		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:7111164G>A	ENST00000306904.5	+	1	1000	c.813G>A	c.(811-813)ggG>ggA	p.G271G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	271	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGACTACGGGGATCATCTGA	0.657																																					p.G271G		Atlas-SNP	.											.	RBMXL2	47	.	0			c.G813A						PASS	.	G		2,4390		0,2,2194	26	30	29		813	-1.5	0	11	dbSNP_134	29	0,8582		0,0,4291	no	coding-synonymous	RBMXL2	NM_014469.4		0,2,6485	AA,AG,GG		0.0,0.0455,0.0154		271/393	7111164	2,12972	2196	4291	6487	SO:0001819	synonymous_variant	27288	exon1			CTACGGGGATCAT	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.813G>A	11.37:g.7111164G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	68	14	0.205882	NM_014469	Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	CCDS7777.1																																																																																			G|1.000;A|0.000	0.000	weak		0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		A	7111164	G	A	7111164	2	1	36	1	0	0	0	0	0	0	0	1	13154	1219	43	2		2	RBMXL2	11	7111164	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	1103766	7111164	127895352	58	23689										
OR4A15	81328	hgsc.bcm.edu	37	chr11	55135959	55135959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ctccctttctgtggacccaaTgtcattgacaacttcctgtg	7	13	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:55135959T>C	ENST00000314706.3	+	1	600	c.600T>C	c.(598-600)aaT>aaC	p.N200N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	200						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(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTGGACCCAATGTCATTGACA	0.433																																					p.N200N		Atlas-SNP	.											.	OR4A15	161	.	0			c.T600C						PASS	.						139	128	132					11																	55135959		2200	4276	6476	SO:0001819	synonymous_variant	81328	exon1			ACCCAATGTCATT	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.600T>C	11.37:g.55135959T>C		Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	314	49	0.156051	NM_001005275	Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	CCDS31500.1																																																																																			.	.	none		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		C	55135959	T	C	55135959	2	2	36	1	0	0	0	0	0	0	0	1	11040	1461	51	2		2	OR4A15	11	55135959	Silent	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	48024795	55135959	79870557	59	23690										
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579056	55579056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cttctcatctatggagtcacGttgttagccaacctgggcat	9	11	3	0	rs147224918		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:55579056G>A	ENST00000333973.2	+	1	203	c.114G>A	c.(112-114)acG>acA	p.T38T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATGGAGTCACGTTGTTAGCCA	0.502													N|||	1	0.000199681	0.0008	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.0				p.T38T		Atlas-SNP	.											OR5L1,colon,carcinoma,+2,2	OR5L1	145	2	1	Substitution - coding silent(1)	ovary(1)	c.G114A						scavenged	.	G		1,4399	2.1+/-5.4	0,1,2199	304	268	280		114	-8.6	0	11	dbSNP_134	280	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	OR5L1	NM_001004738.1		0,5,6491	AA,AG,GG		0.0466,0.0227,0.0385		38/312	55579056	5,12987	2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			AGTCACGTTGTTA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.114G>A	11.37:g.55579056G>A		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	155	28	0.180645	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			G|1.000;A|0.000	0.000	weak		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		A	55579056	G	A	55579056	2	1	36	1	0	0	0	0	0	0	0	1	11170	1132	40	1		1	OR5L1	11	55579056	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	443097	55579056	79427460	60	23691										
PCNXL3	399909	hgsc.bcm.edu	37	chr11	65388334	65388334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcattcctccagcttccactCggctgatgtccctgaggcta	9	15	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:65388334C>T	ENST00000355703.3	+	10	2671	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	711						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTTCCACTCGGCTGATGTC	0.682																																					p.S711L		Atlas-SNP	.											.	PCNXL3	140	.	0			c.C2132T						PASS	.						16	20	18					11																	65388334		2029	4170	6199	SO:0001583	missense	399909	exon10			TCCACTCGGCTGA	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2132C>T	11.37:g.65388334C>T	ENSP00000347931:p.Ser711Leu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	66	12	0.181818	NM_032223	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576123	0.65878	.	.	ENSG00000197136	ENST00000355703	T	0.27557	1.66	5.41	4.49	0.54785	.	.	.	.	.	T	0.29524	0.0736	M	0.64404	1.975	0.38704	D	0.953055	B	0.18310	0.027	B	0.06405	0.002	T	0.10405	-1.0631	9	0.31617	T	0.26	.	10.5747	0.45221	0.0:0.9076:0.0:0.0924	.	711	Q9H6A9	PCX3_HUMAN	L	711	ENSP00000347931:S711L	ENSP00000347931:S711L	S	+	2	0	PCNXL3	65144910	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	6.243000	0.72384	2.536000	0.85505	0.555000	0.69702	TCG	.	.	none		0.682	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65388334	C	T	65388334	3	4	36	1	0	0	0	0	1	0	0	0	11593	893	31	1	2170	1	PCNXL3	11	65388334	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	9809278	65388334	69618182	61	23692										
BBS1	582	hgsc.bcm.edu	37	chr11	66299440	66299440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aggtgctggtgcttcgagaaGgccaaagtgcacccctgctg	14	11	0	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:66299440G>A	ENST00000318312.7	+	17	1765	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.G609S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.G475S	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	572					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCTTCGAGAAGGCCAAAGTGC	0.642									Bardet-Biedl syndrome																												p.G572S	GBM(152;173 2612 9770 10137)	Atlas-SNP	.											.	BBS1	58	.	0			c.G1714A						PASS	.						45	39	41					11																	66299440		2196	4293	6489	SO:0001583	missense	582	exon17	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	CGAGAAGGCCAAA	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1714G>A	11.37:g.66299440G>A	ENSP00000317469:p.Gly572Ser	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	46	10	0.217391	NM_024649	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828530	0.90955	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	D;D;D	0.96856	-4.08;-4.15;-3.97	5.14	5.14	0.70334	.	.	.	.	.	D	0.95671	0.8592	L	0.43152	1.355	0.80722	D	1	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.54060	0.741;0.629;0.741	D	0.93872	0.7163	9	0.22109	T	0.4	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	475;572;609	E7EQH1;Q8NFJ9;Q8NFJ9-2	.;BBS1_HUMAN;.	S	609;572;475	ENSP00000398526:G609S;ENSP00000317469:G572S;ENSP00000405764:G475S	ENSP00000317469:G572S	G	+	1	0	BBS1;CTD-3074O7.11	66056016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.211000	0.89754	2.682000	0.91365	0.585000	0.79938	GGC	.	.	none		0.642	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			A	66299440	G	A	66299440	3	1	36	1	0	0	0	0	1	0	0	0	1335	1000	35	2	1780	2	BBS1	11	66299440	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	911106	66299440	68707076	62	23693										
P4HA3	283208	hgsc.bcm.edu	37	chr11	73997431	73997431	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cctggccatcctcttattatCtgggcctggaagaaatcaga	9	11	3	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:73997431C>T	ENST00000331597.4	-	6	820	c.775G>A	c.(775-777)Gat>Aat	p.D259N	P4HA3_ENST00000427714.2_Missense_Mutation_p.D259N	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	259						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCTTATTATCTGGGCCTGGA	0.498																																					p.D259N		Atlas-SNP	.											.	P4HA3	43	.	0			c.G775A						PASS	.						83	90	88					11																	73997431		2200	4293	6493	SO:0001583	missense	283208	exon6			TATTATCTGGGCC	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.775G>A	11.37:g.73997431C>T	ENSP00000332170:p.Asp259Asn	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	112	28	0.25	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642375	0.29246	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.60920	0.15;0.15	5.56	3.67	0.42095	Tetratricopeptide-like helical (1);	0.972834	0.08531	N	0.932012	T	0.43366	0.1244	L	0.28344	0.845	0.30401	N	0.779985	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	T	0.33828	-0.9853	10	0.13108	T	0.6	-9.1567	10.8359	0.46688	0.0:0.842:0.0:0.158	.	259;259	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	N	259	ENSP00000332170:D259N;ENSP00000401749:D259N	ENSP00000332170:D259N	D	-	1	0	P4HA3	73675079	0.177000	0.23109	0.998000	0.56505	0.982000	0.71751	0.753000	0.26376	1.379000	0.46325	0.644000	0.83932	GAT	.	.	none		0.498	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		T	73997431	C	T	73997431	3	4	36	1	0	0	0	0	1	0	0	0	11358	913	32	2	891	2	P4HA3	11	73997431	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	7697991	73997431	61009085	63	23694										
CARD17	440068	hgsc.bcm.edu	37	chr11	104970112	104970112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aggaaggaagtactatttgaGaatcttgtgtagtaaggtga	13	2	1	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:104970112G>A	ENST00000375707.1	-	3	327	c.311C>T	c.(310-312)tCt>tTt	p.S104F	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	104					regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						TACTATTTGAGAATCTTGTGT	0.383																																					p.S104F		Atlas-SNP	.											.	CARD17	15	.	0			c.C311T						PASS	.						124	119	121					11																	104970112		2202	4299	6501	SO:0001583	missense	440068	exon3			ATTTGAGAATCTT		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.311C>T	11.37:g.104970112G>A	ENSP00000364859:p.Ser104Phe	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	34	8	0.235294	NM_001007232		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	2.868	-0.234690	0.05983	.	.	ENSG00000255221	ENST00000375707	T	0.19394	2.15	1.6	0.655	0.17839	.	.	.	.	.	T	0.16128	0.0388	M	0.64567	1.98	0.09310	N	1	B	0.19706	0.038	B	0.14023	0.01	T	0.39099	-0.9630	9	0.10111	T	0.7	.	3.8812	0.09079	0.2387:0.0:0.7613:0.0	.	104	Q5XLA6	CAR17_HUMAN	F	104	ENSP00000364859:S104F	ENSP00000364859:S104F	S	-	2	0	CARD17	104475322	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.215000	0.17562	0.225000	0.20959	0.430000	0.28490	TCT	.	.	none		0.383	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104970112	G	A	104970112	3	1	36	1	0	0	0	0	1	0	0	0	2648	942	33	2	25	2	CARD17	11	104970112	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	30972681	104970112	30036404	64	23695										
ALG9	91893	hgsc.bcm.edu	37	chr11	111742146	111742146	+	IGR	DEL	G	G	-													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agcttgtccgcagccggggcGcgtatccccactgctggccc					rs10708475		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr11:111742146delG	ENST00000260257.4	-	0	2789				ALG9_ENST00000527377.1_5'UTR|ALG9_ENST00000531154.1_5'Flank|ALG9_ENST00000524880.1_Frame_Shift_Del_p.R254fs|ALG9_ENST00000398006.2_5'Flank|ALG9_ENST00000527228.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1						phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CAGCCGGGGCGCGTATCCCCA	0.706													-|G|-|insertion	5008	1.0	1.0	1.0	5008	,	,		10686	1.0		1.0	False		,,,				2504	1.0				p.A21fs		Pindel	.											.	ALG9	77	.	0			c.61delG						PASS	.		,	1444,2		722,0,1	1	1	1		,	1	0.1	11	dbSNP_119	1	3620,0		1810,0,0	no	frameshift,frameshift	ALG9	NM_024740.2,NM_001077690.1	,	2532,0,1	A1A1,A1R,RR		0.0,0.1383,0.0395	,	,	111742146	5064,2	138	312	450	SO:0001628	intergenic_variant	79796	exon2			.		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795		11.37:g.111742146delG		Somatic	5	.	.		WXS	Illumina HiSeq	Phase_I	13	12	0.923	NM_024740	A0PJW7|B4DUU2	Frame_Shift_Del	DEL	ENST00000260257.4	37	CCDS44729.1																																																																																			G|0.006;-|0.994	0.994	strong		0.706	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		-	111742146	G	-	111742146	6	5	36	0	1	1	0	1	0	0	0	0	524	1087	38	0		0	ALG9	11	111742146	IGR	DEL	G	TCGA-GS-A9U3-01A-11D-A38X-10	6772034	111742146	23264370	65	23696										
PRB1	5542	hgsc.bcm.edu	37	chr12	11506837	11506837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	19	6	0	1	rs200080540		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr12:11506837T>C	ENST00000500254.2	-	3	237	c.200A>G	c.(199-201)aAa>aGa	p.K67R	PRB1_ENST00000546254.1_Missense_Mutation_p.K67R|PRB1_ENST00000545626.1_Missense_Mutation_p.K67R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)		p.K67R(5)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.607																																					p.K67R		Atlas-SNP	.											PRB1,NS,carcinoma,-1,6	PRB1	33	6	5	Substitution - Missense(5)	kidney(4)|skin(1)	c.A200G						scavenged	.						117	147	137					12																	11506837		2154	4254	6408	SO:0001583	missense	5542	exon3			TGAGGTTTGTTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.200A>G	12.37:g.11506837T>C	ENSP00000420826:p.Lys67Arg	Somatic	287	4	0.0139373		WXS	Illumina HiSeq	Phase_I	347	7	0.0201729	NM_199353	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.147353	0.00328	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04194	3.68;3.68;3.68	1.44	-2.87	0.05700	.	.	.	.	.	T	0.03220	0.0094	L	0.45228	1.405	0.09310	N	1	B;B;B	0.31174	0.311;0.311;0.311	B;B;B	0.24394	0.036;0.053;0.053	T	0.46693	-0.9173	9	0.05959	T	0.93	.	7.8249	0.29309	0.0:0.0:0.6974:0.3026	.	74;67;67	Q86YA1;G3V1R1;G3V1M9	.;.;.	R	67	ENSP00000444249:K67R;ENSP00000420826:K67R;ENSP00000442127:K67R	ENSP00000420826:K67R	K	-	2	0	PRB1	11398104	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.162000	0.10012	-1.259000	0.02468	-0.662000	0.03851	AAA	.	.	weak		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506837	T	C	11506837	3	2	36	1	0	0	0	0	1	0	0	0	12442	1841	64	2	799	2	PRB1	12	11506837	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10		11506837	122345058	66	23697										
GLIPR1L2	144321	hgsc.bcm.edu	37	chr12	75816842	75816843	+	Intron	INS	-	-	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aataagcgattgaacactagINSttttttatggtcatgttaat							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr12:75816842_75816843insT	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000320460.4_Frame_Shift_Ins_p.SF248fs|GLIPR1L2_ENST00000378692.3_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGAACACTAGTTTTTTATGGT	0.292																																					p.S248fs		Atlas-Indel	.											.	GLIPR1L2	54	.	0			c.743_744insT						PASS	.																																			SO:0001627	intron_variant	144321	exon4			.	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+73->T	12.37:g.75816848_75816848dupT		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	11	0.125	NM_152436	Q6MZS1|Q8N6N0|Q8NA43	Frame_Shift_Ins	INS	ENST00000550916.1	37	CCDS58258.1																																																																																			.	.	none		0.292	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		T	75816843	-	T	75816842	6	5	36	0	1	1	1	0	0	0	0	0	6443	1029	36	0		0	GLIPR1L2	12	75816842	Intron	INS	-	TCGA-GS-A9U3-01A-11D-A38X-10	64310005	75816842	58035053	67	23698										
SETD8	387893	hgsc.bcm.edu	37	chr12	123892235	123892235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcttccattgaagcccacccGtggctgaagcattaaccggt	10	13	0	2	rs61955128	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr12:123892235G>A	ENST00000402868.3	+	8	1470	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	SETD8_ENST00000330479.4_Silent_p.P348P			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	389	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAGCCCACCCGTGGCTGAAGC	0.562													G|||	26	0.00519169	0.0083	0.0014	5008	,	,		14479	0.003		0.003	False		,,,				2504	0.0082				p.P348P		Atlas-SNP	.											SETD8,NS,neuroblastoma,0,1	SETD8	35	1	0			c.G1044A						scavenged	.						15	15	15					12																	123892235		2194	4279	6473	SO:0001819	synonymous_variant	387893	exon8			CCACCCGTGGCTG	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.1044G>A	12.37:g.123892235G>A		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	61	5	0.0819672	NM_020382	A8K9D0|Q86W83|Q8TD09	Silent	SNP	ENST00000402868.3	37	CCDS9247.1																																																																																			G|0.999;A|0.001	0.001	strong		0.562	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		A	123892235	G	A	123892235	2	1	36	1	0	0	0	0	0	0	0	1	14137	1132	40	1		1	SETD8	12	123892235	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	48075393	123892235	9959660	68	23699										
FZD10	11211	hgsc.bcm.edu	37	chr12	130649024	130649024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tgaagatctttatgctgctgGtggtggggatcaccagcggg	16	7	2	2	rs369465643		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr12:130649024G>C	ENST00000229030.4	+	1	2021	c.1537G>C	c.(1537-1539)Gtg>Ctg	p.V513L	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	513					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TATGCTGCTGGTGGTGGGGAT	0.542																																					p.V513L		Atlas-SNP	.											.	FZD10	95	.	0			c.G1537C						PASS	.						42	43	42					12																	130649024		2203	4300	6503	SO:0001583	missense	11211	exon1			CTGCTGGTGGTGG	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1537G>C	12.37:g.130649024G>C	ENSP00000229030:p.Val513Leu	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	40	7	0.175	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266811	0.40095	.	.	ENSG00000111432	ENST00000229030	D	0.82081	-1.57	4.87	3.97	0.46021	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000002	T	0.75034	0.3795	L	0.28556	0.865	0.54753	D	0.999985	P	0.35107	0.484	B	0.38225	0.268	T	0.70066	-0.4974	10	0.25751	T	0.34	.	13.0162	0.58759	0.0787:0.0:0.9213:0.0	.	513	Q9ULW2	FZD10_HUMAN	L	513	ENSP00000229030:V513L	ENSP00000229030:V513L	V	+	1	0	FZD10	129214977	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	4.761000	0.62243	1.027000	0.39758	0.561000	0.74099	GTG	.	.	alt		0.542	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	130649024	G	C	130649024	3	2	36	1	0	0	0	0	1	0	0	0	6129	1261	44	4	1539	4	FZD10	12	130649024	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	6756789	130649024	3202871	69	23700										
SACS	26278	hgsc.bcm.edu	37	chr13	23908091	23908091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcatttggaaaaactgcaatGtgcataaggctgagaggaag	13	5	0	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr13:23908091G>A	ENST00000382292.3	-	9	10197	c.9924C>T	c.(9922-9924)caC>caT	p.H3308H	SACS_ENST00000402364.1_Silent_p.H2558H|SACS_ENST00000382298.3_Silent_p.H3308H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3308					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACTGCAATGTGCATAAGGC	0.418																																					p.H3308H		Atlas-SNP	.											.	SACS	871	.	0			c.C9924T						PASS	.						79	71	74					13																	23908091		2203	4299	6502	SO:0001819	synonymous_variant	26278	exon10			TGCAATGTGCATA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9924C>T	13.37:g.23908091G>A		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	107	20	0.186916	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			.	.	none		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23908091	G	A	23908091	2	1	36	1	0	0	0	0	0	0	0	1	13804	1368	48	2		2	SACS	13	23908091	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		23908091	91261787	70	23701										
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	caacacagacagtgggtccaCgtcctgcagctgctgctgct	11	14	0	1	rs113416318	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491				p.R487C		Atlas-SNP	.											PABPC3,rectum,carcinoma,0,1	PABPC3	129	1	0			c.C1459T						scavenged	.																																			SO:0001583	missense	5042	exon1			GGTCCACGTCCTG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	69	6	0.0869565	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT	C|0.988;T|0.012	0.012	strong		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	36	1	0	0	0	0	1	0	0	0	11365	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	1763704	25671795	89498083	71	23702										
CSNK1A1L	122011	hgsc.bcm.edu	37	chr13	37679015	37679015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tagaaaattctttgtatgcaCgtattcaattctgctgatca	6	7	4	2	rs558439842		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr13:37679015C>T	ENST00000379800.3	-	1	788	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTTGTATGCACGTATTCAATT	0.403																																					p.V127M		Atlas-SNP	.											.	CSNK1A1L	69	.	0			c.G379A						PASS	.						184	168	173					13																	37679015		2203	4300	6503	SO:0001583	missense	122011	exon1			TATGCACGTATTC	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.379G>A	13.37:g.37679015C>T	ENSP00000369126:p.Val127Met	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	165	27	0.163636	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368569	0.24771	.	.	ENSG00000180138	ENST00000379800	T	0.19105	2.17	1.01	1.01	0.19927	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.130073	0.51477	D	0.000098	T	0.19046	0.0457	L	0.37561	1.115	0.37424	D	0.913758	D	0.61080	0.989	P	0.50405	0.64	T	0.11518	-1.0584	10	0.27785	T	0.31	.	7.8591	0.29499	0.0:1.0:0.0:0.0	.	127	Q8N752	KC1AL_HUMAN	M	127	ENSP00000369126:V127M	ENSP00000369126:V127M	V	-	1	0	CSNK1A1L	36577015	1.000000	0.71417	0.490000	0.27465	0.493000	0.33554	1.450000	0.35134	0.825000	0.34637	0.561000	0.74099	GTG	.	.	none		0.403	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		T	37679015	C	T	37679015	3	4	36	1	0	0	0	0	1	0	0	0	3951	536	19	1	638	1	CSNK1A1L	13	37679015	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	12007220	37679015	77490863	72	23703										
HTR2A	3356	hgsc.bcm.edu	37	chr13	47409701	47409701	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aggacaaagttatcatcggcGagtaagcaactcccctcctt	8	12	1	0	rs141413930		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr13:47409701G>T	ENST00000378688.4	-	3	818	c.687C>A	c.(685-687)ctC>ctA	p.L229L	HTR2A_ENST00000543956.1_Silent_p.L145L|HTR2A_ENST00000542664.1_Silent_p.L229L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	229					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TATCATCGGCGAGTAAGCAAC	0.428																																					p.L229L		Atlas-SNP	.											.	HTR2A	98	.	0			c.C687A						PASS	.						76	74	75					13																	47409701		2203	4300	6503	SO:0001819	synonymous_variant	3356	exon4			ATCGGCGAGTAAG	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.687C>A	13.37:g.47409701G>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	85	22	0.258824	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																			G|0.999;A|0.001	.	alt		0.428	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		T	47409701	G	T	47409701	2	4	36	1	0	0	0	0	0	0	0	1	7441	1045	37	4		4	HTR2A	13	47409701	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	9730686	47409701	67760177	73	23704										
GABRG3	2567	hgsc.bcm.edu	37	chr15	27772692	27772692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tgaccgtgtgcttcctgtttGtcttcgccgcgctgatggag	13	11	1	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr15:27772692G>A	ENST00000333743.6	+	8	1233	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	327					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCCTGTTTGTCTTCGCCGC	0.547																																					p.V327I	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.G979A						PASS	.						130	119	123					15																	27772692		2165	4275	6440	SO:0001583	missense	2567	exon8			CTGTTTGTCTTCG		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.979G>A	15.37:g.27772692G>A	ENSP00000331912:p.Val327Ile	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	74	8	0.108108	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738335	0.89573	.	.	ENSG00000182256	ENST00000333743	D	0.88354	-2.37	5.48	4.57	0.56435	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	L	0.39020	1.185	0.80722	D	1	D	0.55385	0.971	D	0.63033	0.91	D	0.91243	0.5023	10	0.87932	D	0	.	13.4198	0.60989	0.0754:0.0:0.9246:0.0	.	327	Q99928	GBRG3_HUMAN	I	327	ENSP00000331912:V327I	ENSP00000331912:V327I	V	+	1	0	GABRG3	25446287	1.000000	0.71417	0.977000	0.42913	0.838000	0.47535	9.402000	0.97298	1.312000	0.45043	0.563000	0.77884	GTC	.	.	none		0.547	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			A	27772692	G	A	27772692	3	1	36	1	0	0	0	0	1	0	0	0	6173	1377	48	2	1009	2	GABRG3	15	27772692	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		27772692	74758700	74	23705										
UBE2Q2	92912	hgsc.bcm.edu	37	chr15	76161328	76161330	+	In_Frame_Del	DEL	GAA	GAA	-													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aagtgacttcagaagaagagGaagaagaagaagagatggct							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr15:76161328_76161330delGAA	ENST00000267938.4	+	4	806_808	c.424_426delGAA	c.(424-426)gaadel	p.E146del	UBE2Q2_ENST00000561851.1_In_Frame_Del_p.E130del|UBE2Q2_ENST00000338677.4_In_Frame_Del_p.E146del|UBE2Q2_ENST00000569423.1_In_Frame_Del_p.E111del	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	146	Glu-rich.				protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						agaagaagaggaagaagaagaag	0.335																																					p.141_142del		Atlas-Indel	.											.	UBE2Q2	26	.	0			c.423_425del						PASS	.																																			SO:0001651	inframe_deletion	92912	exon4			.	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"Ubiquitin-conjugating enzymes E2"	19248	protein-coding gene	gene with protein product		612501	"ubiquitin-conjugating enzyme E2Q (putative) 2"			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.424_426delGAA	15.37:g.76161337_76161339delGAA	ENSP00000267938:p.Glu146del	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	194	38	0.195876	NM_173469	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	In_Frame_Del	DEL	ENST00000267938.4	37	CCDS10286.1																																																																																			.	.	none		0.335	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		-	76161330	GAA	-	76161328	7	5	36	1	0	1	0	1	0	0	0	0	16867	1175	41	0	574	0	UBE2Q2	15	76161328	In_Frame_Del	DEL	GAA	TCGA-GS-A9U3-01A-11D-A38X-10	48388636	76161328	26370064	75	23706										
PKD1	5310	hgsc.bcm.edu	37	chr16	2152129	2152129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cggccccgctgcccacagaaAgggatggcgcggccccggct	15	17	0	1	rs144582212	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr16:2152129A>G	ENST00000262304.4	-	26	9538	c.9330T>C	c.(9328-9330)ccT>ccC	p.P3110P	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.P3110P	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3110					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCACAGAAAGGGATGGCGC	0.667													g|||	695	0.138778	0.3911	0.0994	5008	,	,		16303	0.0		0.0815	False		,,,				2504	0.0276				p.P3110P		Atlas-SNP	.											PKD1,NS,carcinoma,0,1	PKD1	184	1	0			c.T9330C						scavenged	.																																			SO:0001819	synonymous_variant	5310	exon26			ACAGAAAGGGATG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9330T>C	16.37:g.2152129A>G		Somatic	34	5	0.147059		WXS	Illumina HiSeq	Phase_I	39	10	0.25641	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.500;G|0.500	0.500	weak		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2152129	A	G	2152129	2	3	36	1	0	0	0	0	0	0	0	1	11963	59	3	3		3	PKD1	16	2152129	Silent	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10		2152129	88202624	76	23707										
PPP4C	5531	hgsc.bcm.edu	37	chr16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ctgttccccaggtgtgcggcGacatccatggacaattctat	10	12	1	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522																																					p.D54N		Atlas-SNP	.											.	PPP4C	25	.	0			c.G160A						PASS	.						104	89	94					16																	30093814		2197	4300	6497	SO:0001583	missense	5531	exon4			TGCGGCGACATCC		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.160G>A	16.37:g.30093814G>A	ENSP00000279387:p.Asp54Asn	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	60	8	0.133333	NM_002720	P33172	Missense_Mutation	SNP	ENST00000279387.7	37	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450968	0.63290	.	.	ENSG00000149923	ENST00000279387	D	0.99842	-7.1	5.88	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97783	4.075	0.80722	D	1	D	0.55385	0.971	P	0.51657	0.676	D	0.96754	0.9556	10	0.66056	D	0.02	-1.226	15.362	0.74483	0.0:0.0:0.8591:0.1409	.	54	P60510	PP4C_HUMAN	N	54	ENSP00000279387:D54N	ENSP00000279387:D54N	D	+	1	0	PPP4C	30001315	1.000000	0.71417	0.849000	0.33467	0.366000	0.29705	9.363000	0.97131	1.489000	0.48450	0.561000	0.74099	GAC	.	.	none		0.522	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		A	30093814	G	A	30093814	3	1	36	1	0	0	0	0	1	0	0	0	12402	1058	37	1	170	1	PPP4C	16	30093814	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	27941685	30093814	60260939	77	23708										
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240794	39240794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cagcccacctgctgccgcccCagctgctgccgcccctgctg	10	22	0	0	rs9894106|rs553572799	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																					p.P112P		Atlas-SNP	.											KRTAP4-7,NS,carcinoma,0,3	KRTAP4-7	49	3	3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	NS(2)|prostate(1)	c.C336A						scavenged	.						13	14	14					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476	exon1			CCGCCCCAGCTGC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	9	6	0.666667	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.	.	weak		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			A	39240794	C	A	39240794	2	1	36	1	0	0	0	0	0	0	0	1	8555	581	21	4		4	KRTAP4-7	17	39240794	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10		39240794	41954416	78	23709										
FAM117A	81558	hgsc.bcm.edu	37	chr17	47799869	47799869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gtgggtagctacctcttttcGgtggtctgtgctgccccagg	14	11	2	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr17:47799869G>A	ENST00000240364.2	-	3	533	c.454C>T	c.(454-456)Cga>Tga	p.R152*	FAM117A_ENST00000514018.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	152										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ACCTCTTTTCGGTGGTCTGTG	0.582																																					p.R152X		Atlas-SNP	.											.	FAM117A	45	.	0			c.C454T						PASS	.						129	95	106					17																	47799869		2203	4300	6503	SO:0001587	stop_gained	81558	exon3			CTTTTCGGTGGTC	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.454C>T	17.37:g.47799869G>A	ENSP00000240364:p.Arg152*	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	63	9	0.142857	NM_030802	B7Z7Q3	Nonsense_Mutation	SNP	ENST00000240364.2	37	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870750	0.72065	.	.	ENSG00000121104	ENST00000240364;ENST00000511743	.	.	.	5.22	4.24	0.50183	.	0.096296	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-13.8172	13.1594	0.59537	0.0:0.0:0.8398:0.1602	.	.	.	.	X	152;42	.	ENSP00000240364:R152X	R	-	1	2	FAM117A	45154868	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.596000	0.61055	1.400000	0.46741	0.655000	0.94253	CGA	.	.	none		0.582	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		A	47799869	G	A	47799869	4	1	36	1	0	0	0	0	0	1	0	0	5409	1124	39	1	931	1	FAM117A	17	47799869	Nonsense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	8559075	47799869	33395341	79	23710										
SSTR2	6752	hgsc.bcm.edu	37	chr17	71166537	71166537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cacggagacccagaggacccTcctcaatggagacctccaaa	9	15	1	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr17:71166537T>C	ENST00000357585.2	+	2	1448	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	360					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CAGAGGACCCTCCTCAATGGA	0.567																																					p.L360P		Atlas-SNP	.											.	SSTR2	27	.	0			c.T1079C						PASS	.						48	46	47					17																	71166537		2203	4300	6503	SO:0001583	missense	6752	exon2			GGACCCTCCTCAA		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.1079T>C	17.37:g.71166537T>C	ENSP00000350198:p.Leu360Pro	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_001050	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956312	0.34565	.	.	ENSG00000180616	ENST00000357585	T	0.73575	-0.76	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.68007	0.2954	L	0.46157	1.445	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.63287	-0.6671	10	0.27082	T	0.32	.	15.0092	0.71536	0.0:0.0:0.0:1.0	.	360	P30874	SSR2_HUMAN	P	360	ENSP00000350198:L360P	ENSP00000350198:L360P	L	+	2	0	SSTR2	68678132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.940000	0.70187	2.084000	0.62774	0.533000	0.62120	CTC	.	.	none		0.567	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			C	71166537	T	C	71166537	3	2	36	1	0	0	0	0	1	0	0	0	15197	1551	54	3	1081	3	SSTR2	17	71166537	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	23366668	71166537	10028673	80	23711										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542891	14542891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ttcataaaggagttgtcatgGtctccagaagtgcccacgtt	10	9	3	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr18:14542891G>A	ENST00000358970.5	-	1	254	c.255C>T	c.(253-255)gaC>gaT	p.D85D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	85										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTTGTCATGGTCTCCAGAAG	0.592																																					p.D85D		Atlas-SNP	.											POTEC,NS,carcinoma,0,1	POTEC	129	1	0			c.C255T						PASS	.						48	53	52					18																	14542891		692	1591	2283	SO:0001819	synonymous_variant	388468	exon1			GTCATGGTCTCCA	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.255C>T	18.37:g.14542891G>A		Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	275	28	0.101818	NM_001137671		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																			.	.	none		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		A	14542891	G	A	14542891	2	1	36	1	0	0	0	0	0	0	0	1	12262	1252	44	2		2	POTEC	18	14542891	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		14542891	63534357	81	23712										
DSG3	1830	hgsc.bcm.edu	37	chr18	29039873	29039873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	accacttgaattctaaaattGccttcaaaattgtctctcag	4	10	4	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr18:29039873G>T	ENST00000257189.4	+	6	666	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTAAAATTGCCTTCAAAAT	0.418																																					p.A195S		Atlas-SNP	.											DSG3,colon,carcinoma,0,1	DSG3	172	1	0			c.G583T						scavenged	.						87	82	84					18																	29039873		2203	4300	6503	SO:0001583	missense	1830	exon6			AAAATTGCCTTCA	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.583G>T	18.37:g.29039873G>T	ENSP00000257189:p.Ala195Ser	Somatic	60	2	0.0333333		WXS	Illumina HiSeq	Phase_I	90	12	0.133333	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021035	0.54576	.	.	ENSG00000134757	ENST00000257189	T	0.49432	0.78	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.000000	0.46758	D	0.000263	T	0.54515	0.1863	L	0.37466	1.105	0.39402	D	0.966605	P	0.50710	0.938	P	0.61397	0.888	T	0.44236	-0.9341	10	0.20046	T	0.44	.	15.4834	0.75545	0.0:0.1389:0.8611:0.0	.	195	P32926	DSG3_HUMAN	S	195	ENSP00000257189:A195S	ENSP00000257189:A195S	A	+	1	0	DSG3	27293871	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.366000	0.59492	2.698000	0.92095	0.561000	0.74099	GCC	.	.	none		0.418	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29039873	G	T	29039873	3	4	36	1	0	0	0	0	1	0	0	0	4778	1319	46	4	605	4	DSG3	18	29039873	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	14496982	29039873	49037375	82	23713										
PSG1	5669	hgsc.bcm.edu	37	chr19	43382402	43382402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	atcgtgacttgggcagtggtGggcaggttccagaagtttaa	15	6	0	2	rs17423717	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:43382402G>A	ENST00000436291.2	-	2	209	c.93C>T	c.(91-93)ccC>ccT	p.P31P	PSG1_ENST00000595356.1_Silent_p.P31P|PSG1_ENST00000403380.3_Silent_p.P31P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Silent_p.P31P|PSG1_ENST00000244296.2_Silent_p.P31P|PSG1_ENST00000312439.6_Silent_p.P31P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	31					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGGCAGTGGTGGGCAGGTTCC	0.493													.|||	52	0.0103834	0.0212	0.0072	5008	,	,		19198	0.005		0.002	False		,,,				2504	0.0123				p.P31P		Atlas-SNP	.											PSG1_ENST00000312439,NS,carcinoma,-1,4	PSG1	196	4	0			c.C93T						scavenged	.						142	154	150					19																	43382402		2203	4299	6502	SO:0001819	synonymous_variant	5669	exon2			AGTGGTGGGCAGG		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.93C>T	19.37:g.43382402G>A		Somatic	118	1	0.00847458		WXS	Illumina HiSeq	Phase_I	112	5	0.0446429	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																			G|0.996;A|0.004	0.004	strong		0.493	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43382402	G	A	43382402	2	1	36	1	0	0	0	0	0	0	0	1	12653	1335	47	2		2	PSG1	19	43382402	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		43382402	15746581	83	23714										
SHANK1	50944	hgsc.bcm.edu	37	chr19	51165532	51165532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cgagccccccggatatccccGggtgtggcggcacaaagact	13	15	0	1	rs571797572		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:51165532G>A	ENST00000293441.1	-	23	6194	c.6176C>T	c.(6175-6177)cCg>cTg	p.P2059L	SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Missense_Mutation_p.P2067L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.P2050L|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1446L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2059					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGATATCCCCGGGTGTGGCGG	0.701													g|||	1	0.000199681	0.0	0.0	5008	,	,		12621	0.001		0.0	False		,,,				2504	0.0				p.P2059L		Atlas-SNP	.											.	SHANK1	210	.	0			c.C6176T						PASS	.																																			SO:0001583	missense	50944	exon23			ATCCCCGGGTGTG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6176C>T	19.37:g.51165532G>A	ENSP00000293441:p.Pro2059Leu	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	68	15	0.220588	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	9.125	1.010036	0.19277	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37584	1.31;1.76;1.3;1.19	3.55	2.5	0.30297	.	0.169189	0.38436	U	0.001681	T	0.28366	0.0701	L	0.52573	1.65	0.43485	D	0.995716	B;B	0.23490	0.052;0.086	B;B	0.10450	0.002;0.005	T	0.10660	-1.0620	10	0.52906	T	0.07	.	7.0697	0.25171	0.1295:0.0:0.8705:0.0	.	2059;1446	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	2059;1446;2050;2067	ENSP00000293441:P2059L;ENSP00000375689:P1446L;ENSP00000351984:P2050L;ENSP00000375690:P2067L	ENSP00000293441:P2059L	P	-	2	0	SHANK1	55857344	0.985000	0.35326	0.735000	0.30896	0.825000	0.46686	0.923000	0.28757	0.845000	0.35118	0.450000	0.29827	CCG	.	.	none		0.701	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51165532	G	A	51165532	3	1	36	1	0	0	0	0	1	0	0	0	14264	1116	39	1	313	1	SHANK1	19	51165532	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	7783130	51165532	7963451	84	23715										
ZSCAN5A	79149	hgsc.bcm.edu	37	chr19	56736100	56736100	+	Missense_Mutation	SNP	T	T	C													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcagctctgcacaccgttcaTcatgactaagacctggagct					rs200493184		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:56736100T>C	ENST00000587340.1	-	4	1011	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M106V|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M106V|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M106V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACACCGTTCATCATGACTAAG	0.547																																					p.M106V		Atlas-SNP	.											ZSCAN5A,trunk,malignant_melanoma,0,2	ZSCAN5A	118	2	2	Substitution - Missense(2)	skin(2)	c.A316G						scavenged	.						19	19	19					19																	56736100		2139	4211	6350	SO:0001583	missense	79149	exon2			CGTTCATCATGAC	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.316A>G	19.37:g.56736100T>C	ENSP00000467631:p.Met106Val	Somatic	319	6	0.0188088		WXS	Illumina HiSeq	Phase_I	390	13	0.0333333	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.996233	0.00435	.	.	ENSG00000131848	ENST00000391713	T	0.04083	3.71	2.27	0.0345	0.14184	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02119	0.0066	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47142	-0.9140	9	0.29301	T	0.29	.	4.2945	0.10895	0.0:0.6121:0.0:0.3879	.	106	Q9BUG6	ZSA5A_HUMAN	V	106	ENSP00000375593:M106V	ENSP00000375593:M106V	M	-	1	0	ZSCAN5A	61427912	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.069000	0.14552	0.068000	0.16574	-0.415000	0.06103	ATG	.	.	weak		0.547	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		C	56736100	T	C	56736100	3	2	36	1	0	0	0	0	1	0	0	0	18235	1435	50	2	1190	2	ZSCAN5A	19	56736100	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	5570568	56736100	2392883	85	23716	481	2								
ZSCAN5A	79149	hgsc.bcm.edu	37	chr19	56736102	56736102	+	Missense_Mutation	SNP	A	A	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agctctgcacaccgttcatcAtgactaagacctggagctcc					rs201600248		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:56736102A>T	ENST00000587340.1	-	4	1009	c.314T>A	c.(313-315)aTg>aAg	p.M105K	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M105K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M105K|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M105K(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACCGTTCATCATGACTAAGAC	0.552																																					p.M105K		Atlas-SNP	.											ZSCAN5A,trunk,malignant_melanoma,0,2	ZSCAN5A	118	2	2	Substitution - Missense(2)	skin(2)	c.T314A						scavenged	.						19	19	19					19																	56736102		2141	4214	6355	SO:0001583	missense	79149	exon2			TTCATCATGACTA	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.314T>A	19.37:g.56736102A>T	ENSP00000467631:p.Met105Lys	Somatic	322	5	0.015528		WXS	Illumina HiSeq	Phase_I	395	12	0.0303797	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.262023	0.00262	.	.	ENSG00000131848	ENST00000391713	T	0.03745	3.82	2.27	-1.24	0.09435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.00637	0.0021	N	0.00086	-2.195	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44817	-0.9303	9	0.02654	T	1	.	2.254	0.04051	0.2591:0.3296:0.0:0.4112	.	105	Q9BUG6	ZSA5A_HUMAN	K	105	ENSP00000375593:M105K	ENSP00000375593:M105K	M	-	2	0	ZSCAN5A	61427914	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.751000	0.00792	-0.413000	0.07507	-0.669000	0.03829	ATG	.	.	weak		0.552	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		T	56736102	A	T	56736102	3	4	36	1	0	0	0	0	1	0	0	0	18235	217	8	5	1192	5	ZSCAN5A	19	56736102	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	2	56736102	2392881	86	23717	481	2								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	189	28	0.148148	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	36	1	0	0	0	0	1	0	0	0	18173	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	1649688	58385790	743193	87	23718	482	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	179	25	0.139665	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	36	1	0	0	0	0	1	0	0	0	18173	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	3	58385793	743190	88	23719	482	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385798	+	Silent	SNP	C	C	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385798C>T	ENST00000435989.2	-	3	1194	c.960G>A	c.(958-960)ggG>ggA	p.G320G	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAA	0.353																																					p.G320G		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ZNF814	93	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G960A						PASS	.						14	11	12					19																	58385798		687	1560	2247	SO:0001819	synonymous_variant	730051	exon3			TCTTTTCCCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.960G>A	19.37:g.58385798C>T		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	163	24	0.147239	NM_001144989	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.	.	none		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385798	C	T	58385798	2	4	36	1	0	0	0	0	0	0	0	1	18173	842	30	2		2	ZNF814	19	58385798	Silent	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	5	58385798	743185	89	23720	482	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385799	58385799	+	Missense_Mutation	SNP	C	C	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cacattcataaggtcttttcCcagtgtgaactctctgatga							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385799C>T	ENST00000435989.2	-	3	1193	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGGTCTTTTCCCAGTGTGAAC	0.358																																					p.G320E		Atlas-SNP	.											ZNF814,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,2	ZNF814	93	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G959A						scavenged	.						14	11	12					19																	58385799		687	1560	2247	SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959G>A	19.37:g.58385799C>T	ENSP00000410545:p.Gly320Glu	Somatic	152	1	0.00657895		WXS	Illumina HiSeq	Phase_I	161	24	0.149068	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650166	0.14516	.	.	ENSG00000204514	ENST00000435989	T	0.25749	1.78	2.37	-4.23	0.03789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.41824	1.3	0.09310	N	0.999992	D	0.76494	0.999	D	0.65573	0.936	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.112	0.03705	0.1507:0.4859:0.1487:0.2147	.	320	B7Z6K7	ZN814_HUMAN	E	320	ENSP00000410545:G320E	ENSP00000410545:G320E	G	-	2	0	ZNF814	63077611	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.267000	0.08619	-0.341000	0.08376	-3.844000	0.00018	GGG	.	.	none		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385799	C	T	58385799	3	4	36	1	0	0	0	0	1	0	0	0	18173	623	22	2	1612	2	ZNF814	19	58385799	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	1	58385799	743184	90	23721	482	4								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385867	58385867	+	Missense_Mutation	SNP	T	T	A													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gatttcccacattctccacaTtcatgttttttttcagtgtg							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385867T>A	ENST00000435989.2	-	3	1125	c.891A>T	c.(889-891)gaA>gaT	p.E297D	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTCTCCACATTCATGTTTTT	0.363																																					p.E297D		Atlas-SNP	.											ZNF814,NS,carcinoma,-2,1	ZNF814	93	1	0			c.A891T						scavenged	.						5	4	4					19																	58385867		510	1081	1591	SO:0001583	missense	730051	exon3			TCCACATTCATGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.891A>T	19.37:g.58385867T>A	ENSP00000410545:p.Glu297Asp	Somatic	58	1	0.0172414		WXS	Illumina HiSeq	Phase_I	79	11	0.139241	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554325	0.27739	.	.	ENSG00000204514	ENST00000435989	T	0.22134	1.97	1.93	-3.87	0.04218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	L	0.47078	1.49	0.09310	N	1	P	0.36048	0.534	B	0.39738	0.308	T	0.22208	-1.0223	9	0.40728	T	0.16	.	3.3223	0.07054	0.3234:0.181:0.0:0.4956	.	297	B7Z6K7	ZN814_HUMAN	D	297	ENSP00000410545:E297D	ENSP00000410545:E297D	E	-	3	2	ZNF814	63077679	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-2.601000	0.00892	-0.795000	0.04462	0.102000	0.15555	GAA	.	.	none		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385867	T	A	58385867	3	1	36	1	0	0	0	0	1	0	0	0	18173	1490	52	5	1680	5	ZNF814	19	58385867	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10	68	58385867	743116	91	23722	483	2								
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385869	58385869	+	Nonsense_Mutation	SNP	C	C	A													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tttcccacattctccacattCatgttttttttcagtgtgaa					rs199684163|rs10687775|rs55789144|rs66767659	byFrequency	TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr19:58385869C>A	ENST00000435989.2	-	3	1123	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTT	0.363																																					p.E297X		Atlas-SNP	.											ZNF814,NS,carcinoma,0,1	ZNF814	93	1	0			c.G889T						scavenged	.						5	4	5					19																	58385869		591	1308	1899	SO:0001587	stop_gained	730051	exon3			CACATTCATGTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.889G>T	19.37:g.58385869C>A	ENSP00000410545:p.Glu297*	Somatic	57	2	0.0350877		WXS	Illumina HiSeq	Phase_I	79	23	0.291139	NM_001144989	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839119	0.91117	.	.	ENSG00000204514	ENST00000435989	.	.	.	1.93	-3.87	0.04218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6944	0.00896	0.1754:0.2303:0.1739:0.4204	.	.	.	.	X	297	.	ENSP00000410545:E297X	E	-	1	0	ZNF814	63077681	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-0.792000	0.04594	-0.856000	0.04120	0.121000	0.15741	GAA	.	.	weak		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385869	C	A	58385869	4	1	36	1	0	0	0	0	0	1	0	0	18173	835	29	4	1682	4	ZNF814	19	58385869	Nonsense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	2	58385869	743114	92	23723	483	2								
THBD	7056	hgsc.bcm.edu	37	chr20	23028813	23028813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aagccgccgttttcgcactcGtcgatgtccgtgcagatgaa	11	12	0	2			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr20:23028813G>A	ENST00000377103.2	-	1	1565	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	443	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TTTCGCACTCGTCGATGTCCG	0.637																																					p.D443D		Atlas-SNP	.											.	THBD	26	.	0			c.C1329T						PASS	.						51	47	49					20																	23028813		2203	4300	6503	SO:0001819	synonymous_variant	7056	exon1			GCACTCGTCGATG		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1329C>T	20.37:g.23028813G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	72	9	0.125	NM_000361	Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	CCDS13148.1																																																																																			.	.	none		0.637	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			A	23028813	G	A	23028813	2	1	36	1	0	0	0	0	0	0	0	1	15849	1136	40	1		1	THBD	20	23028813	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10		23028813	39996707	93	23724										
KRTAP11-1	337880	hgsc.bcm.edu	37	chr21	32253665	32253665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ggcaagcagtgggctcacagCaggtctcttgacagtggtcc	14	11	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr21:32253665C>A	ENST00000332378.4	-	1	209	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	60						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGGCTCACAGCAGGTCTCTTG	0.562																																					p.C60F		Atlas-SNP	.											KRTAP11-1,NS,carcinoma,+1,1	KRTAP11-1	46	1	0			c.G179T						PASS	.						74	69	71					21																	32253665		2203	4300	6503	SO:0001583	missense	337880	exon1			TCACAGCAGGTCT	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.179G>T	21.37:g.32253665C>A	ENSP00000330720:p.Cys60Phe	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	74	27	0.364865	NM_175858	A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	6.705	0.498771	0.12762	.	.	ENSG00000182591	ENST00000332378	T	0.04015	3.73	5.4	0.0314	0.14171	.	1.043570	0.07461	N	0.900691	T	0.07143	0.0181	M	0.71581	2.175	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41716	-0.9493	10	0.59425	D	0.04	3.1197	3.5867	0.07973	0.1227:0.3415:0.3867:0.1491	.	60	Q8IUC1	KR111_HUMAN	F	60	ENSP00000330720:C60F	ENSP00000330720:C60F	C	-	2	0	KRTAP11-1	31175536	0.064000	0.20934	0.001000	0.08648	0.538000	0.34931	-0.002000	0.12924	-0.184000	0.10567	0.650000	0.86243	TGC	.	.	none		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			A	32253665	C	A	32253665	3	1	36	1	0	0	0	0	1	0	0	0	8517	710	25	4	316	4	KRTAP11-1	21	32253665	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10		32253665	15876230	94	23725										
PCNT	5116	hgsc.bcm.edu	37	chr21	47754488	47754488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	agcgtgggatgttcacagtcAgtgaccacccaccagaacag	11	12	2	2	rs111737555		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr21:47754488A>G	ENST00000359568.5	+	3	552	c.445A>G	c.(445-447)Agt>Ggt	p.S149G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	149					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.557																																					p.S149G		Atlas-SNP	.											PCNT,NS,carcinoma,0,1	PCNT	283	1	0			c.A445G						scavenged	.						192	121	145					21																	47754488		2203	4300	6503	SO:0001583	missense	5116	exon3			ACAGTCAGTGACC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.445A>G	21.37:g.47754488A>G	ENSP00000352572:p.Ser149Gly	Somatic	64	3	0.046875		WXS	Illumina HiSeq	Phase_I	92	9	0.0978261	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.108	-1.142997	0.01728	.	.	ENSG00000160299	ENST00000359568	T	0.01705	4.68	0.428	0.428	0.16499	.	.	.	.	.	T	0.02380	0.0073	L	0.36672	1.1	0.21355	N	0.999717	P;B	0.46395	0.877;0.208	P;B	0.51866	0.682;0.016	T	0.25187	-1.0139	8	0.06625	T	0.88	.	.	.	.	.	31;149	O95613-2;O95613	.;PCNT_HUMAN	G	149	ENSP00000352572:S149G	ENSP00000352572:S149G	S	+	1	0	PCNT	46578916	0.150000	0.22732	0.070000	0.20053	0.032000	0.12392	1.190000	0.32126	0.380000	0.24823	0.172000	0.16884	AGT	A|0.999;T|0.001	.	alt		0.557	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47754488	A	G	47754488	3	3	36	1	0	0	0	0	1	0	0	0	11590	188	7	3	455	3	PCNT	21	47754488	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	15500823	47754488	375407	95	23726										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23237676	23237677	+	Frame_Shift_Ins	INS	-	-	T													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cgggagctgtgacagtggccINStggaaggcagatggcagccc							TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr22:23237676_23237677insT	ENST00000526893.1	+	3	721_722	c.447_448insT	c.(448-450)tggfs	p.W150fs	IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Frame_Shift_Ins_p.W151fs|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	150	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGACAGTGGCCTGGAAGGCAGA	0.594																																					p.A149fs		Atlas-Indel	.											.	IGLL5	26	.	0			c.447_448insT						PASS	.																																			SO:0001589	frameshift_variant	100423062	exon3			.	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.448dupT	22.37:g.23237677_23237677dupT	ENSP00000431254:p.Trp150fs	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	171	28	0.163743	NM_001178126		Frame_Shift_Ins	INS	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.594	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23237677	-	T	23237676	7	5	36	1	0	1	1	0	0	0	0	0	7594	668	24	0	457	0	IGLL5	22	23237676	Frame_Shift_Ins	INS	-	TCGA-GS-A9U3-01A-11D-A38X-10		23237676	28066890	96	23727										
NEFH	4744	hgsc.bcm.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc					rs202065964|rs371230849		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1935G						scavenged	.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	40	6	0.15	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	36	1	0	0	0	0	0	0	0	1	10314	69	3	3		3	NEFH	22	29885564	Silent	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	6647888	29885564	21419002	97	23728	484	2								
NEFH	4744	hgsc.bcm.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C													0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa					rs147489453|rs75808076|rs59279731		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		Atlas-SNP	.											NEFH,rectum,carcinoma,0,1	NEFH	178	1	0			c.A1938C						scavenged	.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	42	8	0.190476	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.	.	weak		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	36	1	0	0	0	0	0	0	0	1	10314	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	3	29885567	21418999	98	23729	484	2								
KIAA1644	85352	hgsc.bcm.edu	37	chr22	44681413	44681413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gcgggcctgggggaggctgcGgctgtggggcccgctgaccc	21	13	0	1	rs372785890		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr22:44681413G>A	ENST00000381176.4	-	4	626	c.494C>T	c.(493-495)cCg>cTg	p.P165L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	165						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGGAGGCTGCGGCTGTGGGGC	0.701													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11290	0.0		0.0	False		,,,				2504	0.0				p.P165L		Atlas-SNP	.											.	KIAA1644	39	.	0			c.C494T						PASS	.	G	LEU/PRO	0,3994		0,0,1997	34	40	38		494	5.1	1	22		38	1,8323		0,1,4161	no	missense	KIAA1644	NM_001099294.1	98	0,1,6158	AA,AG,GG		0.012,0.0,0.0081	benign	165/200	44681413	1,12317	1997	4162	6159	SO:0001583	missense	85352	exon4			GGCTGCGGCTGTG	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.494C>T	22.37:g.44681413G>A	ENSP00000370568:p.Pro165Leu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	81	11	0.135802	NM_001099294	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223504	0.58668	0.0	1.2E-4	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.127367	0.53938	D	0.000058	T	0.39172	0.1068	N	0.19112	0.55	0.30929	N	0.727169	B	0.26708	0.157	B	0.22386	0.039	T	0.50759	-0.8790	8	0.46703	T	0.11	-21.0547	15.5806	0.76432	0.0:0.0:1.0:0.0	.	165	Q3SXP7	K1644_HUMAN	L	165	.	ENSP00000370568:P165L	P	-	2	0	KIAA1644	43012746	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.558000	0.53749	2.345000	0.79718	0.561000	0.74099	CCG	.	.	weak		0.701	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		A	44681413	G	A	44681413	3	1	36	1	0	0	0	0	1	0	0	0	8250	1116	39	1	113	1	KIAA1644	22	44681413	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	14795846	44681413	6623153	99	23730										
CELSR1	9620	hgsc.bcm.edu	37	chr22	46860090	46860090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cttggtggtggacagcacggCggccaccccctccacgaaga	13	15	0	1	rs200980049		TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chr22:46860090C>T	ENST00000262738.3	-	2	3696	c.3697G>A	c.(3697-3699)Gcc>Acc	p.A1233T	CELSR1_ENST00000395964.1_Missense_Mutation_p.A1233T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1233					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACAGCACGGCGGCCACCCCC	0.612																																					p.A1233T		Atlas-SNP	.											CELSR1,NS,carcinoma,+2,1	CELSR1	242	1	0			c.G3697A						PASS	.	C	THR/ALA	0,4406		0,0,2203	72	65	67		3697	-2.1	0.9	22		67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CELSR1	NM_014246.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1233/3015	46860090	1,13005	2203	4300	6503	SO:0001583	missense	9620	exon2			GCACGGCGGCCAC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3697G>A	22.37:g.46860090C>T	ENSP00000262738:p.Ala1233Thr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	58	8	0.137931	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013015	0.35511	0.0	1.16E-4	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.68025	-0.3;0.02	4.75	-2.12	0.07165	.	0.352176	0.25214	N	0.032288	T	0.50905	0.1643	L	0.47716	1.5	0.09310	N	1	B	0.27656	0.184	B	0.15870	0.014	T	0.36432	-0.9748	10	0.26408	T	0.33	.	11.2292	0.48901	0.0:0.4283:0.0:0.5717	.	1233	Q9NYQ6	CELR1_HUMAN	T	1233	ENSP00000262738:A1233T;ENSP00000379293:A1233T	ENSP00000262738:A1233T	A	-	1	0	CELSR1	45238754	0.657000	0.27393	0.930000	0.37139	0.954000	0.61252	0.849000	0.27723	-0.358000	0.08162	-0.302000	0.09304	GCC	.	.	weak		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46860090	C	T	46860090	3	4	36	1	0	0	0	0	1	0	0	0	3221	768	27	1	5483	1	CELSR1	22	46860090	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	2178677	46860090	4444476	100	23731										
USP9X	8239	hgsc.bcm.edu	37	chrX	41075218	41075218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ttgctatacaactaaagcgaTttgactatgactgggaaaga	9	6	0	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:41075218T>G	ENST00000324545.8	+	35	6031	c.5398T>G	c.(5398-5400)Ttt>Gtt	p.F1800V	USP9X_ENST00000378308.2_Missense_Mutation_p.F1800V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1800	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|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 protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTAAAGCGATTTGACTATGA	0.383																																					p.F1800V	Ovarian(172;1807 2695 35459 49286)	Atlas-SNP	.											.	USP9X	385	.	0			c.T5398G						PASS	.						82	78	79					X																	41075218		2067	4244	6311	SO:0001583	missense	8239	exon35			AAGCGATTTGACT	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5398T>G	X.37:g.41075218T>G	ENSP00000316357:p.Phe1800Val	Somatic	357	0	0		WXS	Illumina HiSeq	Phase_I	289	62	0.214533	NM_001039591	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129933	0.77549	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.41400	1.0;1.0	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.92923	3.36	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.69479	0.818;0.964	T	0.79804	-0.1649	10	0.87932	D	0	.	14.935	0.70948	0.0:0.0:0.0:1.0	.	1800;1800	Q93008-1;Q93008	.;USP9X_HUMAN	V	1800	ENSP00000367558:F1800V;ENSP00000316357:F1800V	ENSP00000316357:F1800V	F	+	1	0	USP9X	40960162	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	1.909000	0.55274	0.486000	0.48141	TTT	.	.	none		0.383	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41075218	T	G	41075218	3	3	36	1	0	0	0	0	1	0	0	0	17087	1493	52	5	5532	5	USP9X	23	41075218	Missense_Mutation	SNP	T	TCGA-GS-A9U3-01A-11D-A38X-10		41075218	114195342	101	23732										
ZC4H2	55906	hgsc.bcm.edu	37	chrX	64141833	64141833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cctcaaactcagccttcaaaCgagccttgatcttctccatc	4	16	5	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:64141833C>T	ENST00000374839.3	-	2	195	c.89G>A	c.(88-90)cGt>cAt	p.R30H	ZC4H2_ENST00000545618.1_Missense_Mutation_p.R25H|ZC4H2_ENST00000447788.2_Missense_Mutation_p.R30H|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.R7H	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	30					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGCCTTCAAACGAGCCTTGAT	0.488													C|||	1	0.000264901	0.0	0.0	3775	,	,		14356	0.001		0.0	False		,,,				2504	0.0				p.R30H		Atlas-SNP	.											.	ZC4H2	64	.	0			c.G89A						PASS	.						129	94	106					X																	64141833		2203	4300	6503	SO:0001583	missense	55906	exon2			TTCAAACGAGCCT	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.89G>A	X.37:g.64141833C>T	ENSP00000363972:p.Arg30His	Somatic	382	0	0		WXS	Illumina HiSeq	Phase_I	438	76	0.173516	NM_018684	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151734	0.94645	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.856	T	0.79047	-0.1963	9	0.72032	D	0.01	.	15.669	0.77258	0.0:1.0:0.0:0.0	.	30;30	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	H	30;25;30;7	.	ENSP00000338650:R7H	R	-	2	0	ZC4H2	64058558	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.555000	0.82223	2.384000	0.81235	0.529000	0.55759	CGT	.	.	none		0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		T	64141833	C	T	64141833	3	4	36	1	0	0	0	0	1	0	0	0	17575	536	19	1	620	1	ZC4H2	23	64141833	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	23066615	64141833	91128727	102	23733										
POF1B	79983	hgsc.bcm.edu	37	chrX	84586065	84586065	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	ctggggtccaatttttcaggGccatcatcctgaattatcac	8	11	3	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:84586065G>T	ENST00000262753.4	-	7	889	c.744C>A	c.(742-744)ggC>ggA	p.G248G	POF1B_ENST00000373145.3_Silent_p.G248G	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	248						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATTTTTCAGGGCCATCATCCT	0.353																																					p.G248G		Atlas-SNP	.											.	POF1B	77	.	0			c.C744A						PASS	.						92	77	82					X																	84586065		2203	4300	6503	SO:0001819	synonymous_variant	79983	exon7			TTCAGGGCCATCA	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.744C>A	X.37:g.84586065G>T		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	357	58	0.162465	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	CCDS14452.1																																																																																			.	.	none		0.353	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		T	84586065	G	T	84586065	2	4	36	1	0	0	0	0	0	0	0	1	12182	1190	42	4		4	POF1B	23	84586065	Silent	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	20444232	84586065	70684495	103	23734										
CHM	1121	hgsc.bcm.edu	37	chrX	85119697	85119697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	cttgaaagtctccgagttagCctctggtatggcactggatt	11	9	2	1			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:85119697C>A	ENST00000357749.2	-	15	1929	c.1900G>T	c.(1900-1902)Gct>Tct	p.A634S	CHM_ENST00000537751.1_Missense_Mutation_p.A486S|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	634					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCCGAGTTAGCCTCTGGTATG	0.443																																					p.A634S		Atlas-SNP	.											.	CHM	57	.	0			c.G1900T						PASS	.						79	66	71					X																	85119697		2203	4300	6503	SO:0001583	missense	1121	exon15			AGTTAGCCTCTGG	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1900G>T	X.37:g.85119697C>A	ENSP00000350386:p.Ala634Ser	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	210	16	0.0761905	NM_000390	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.336006	0.05278	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.88509	-2.39;-2.07	4.13	-3.43	0.04810	.	1.119830	0.06565	N	0.747470	T	0.80003	0.4544	L	0.42245	1.32	0.09310	N	1	B	0.18166	0.026	B	0.18263	0.021	T	0.60510	-0.7249	10	0.20519	T	0.43	0.7097	2.0276	0.03523	0.1101:0.2218:0.3252:0.3429	.	634	P24386	RAE1_HUMAN	S	634;486	ENSP00000350386:A634S;ENSP00000441728:A486S	ENSP00000350386:A634S	A	-	1	0	CHM	85006353	0.000000	0.05858	0.005000	0.12908	0.230000	0.25150	-0.820000	0.04457	-0.680000	0.05211	-0.366000	0.07423	GCT	.	.	none		0.443	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		A	85119697	C	A	85119697	3	1	36	1	0	0	0	0	1	0	0	0	3350	739	26	4	65	4	CHM	23	85119697	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	533632	85119697	70150863	104	23735										
MID2	11043	hgsc.bcm.edu	37	chrX	107147248	107147248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	gtgacgagttggtagagatcAtccagcagaggaagcaaatg	14	6	1	3			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:107147248A>G	ENST00000262843.6	+	4	1425	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	MID2_ENST00000443968.2_Missense_Mutation_p.I293V|RP6-191P20.4_ENST00000430140.1_RNA|Y_RNA_ENST00000384633.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	293					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GGTAGAGATCATCCAGCAGAG	0.413																																					p.I293V		Atlas-SNP	.											.	MID2	122	.	0			c.A877G						PASS	.						139	115	123					X																	107147248		2203	4300	6503	SO:0001583	missense	11043	exon4			GAGATCATCCAGC		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.877A>G	X.37:g.107147248A>G	ENSP00000262843:p.Ile293Val	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	240	39	0.1625	NM_012216	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674540	0.47781	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.60299	0.2;0.22	5.23	5.23	0.72850	B-box, C-terminal (1);	0.119673	0.56097	N	0.000025	T	0.45296	0.1335	L	0.31664	0.95	0.53688	D	0.999972	B;P	0.39480	0.303;0.675	B;B	0.37346	0.085;0.247	T	0.46665	-0.9175	10	0.46703	T	0.11	.	12.0069	0.53265	1.0:0.0:0.0:0.0	.	293;293	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	V	293	ENSP00000262843:I293V;ENSP00000413976:I293V	ENSP00000262843:I293V	I	+	1	0	MID2	107033904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.700000	0.91322	1.738000	0.51689	0.486000	0.48141	ATC	.	.	none		0.413	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		G	107147248	A	G	107147248	3	3	36	1	0	0	0	0	1	0	0	0	9578	217	8	2	891	2	MID2	23	107147248	Missense_Mutation	SNP	A	TCGA-GS-A9U3-01A-11D-A38X-10	22027551	107147248	48123312	105	23736										
GPR50	9248	hgsc.bcm.edu	37	chrX	150348455	150348455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	actgctacatctgccacagcCtccagtacgaacggatcttc	7	15	2	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:150348455C>T	ENST00000218316.3	+	2	469	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	134					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCACAGCCTCCAGTACGA	0.542																																					p.L134F		Atlas-SNP	.											.	GPR50	195	.	0			c.C400T						PASS	.						122	122	122					X																	150348455		2203	4300	6503	SO:0001583	missense	9248	exon2			CACAGCCTCCAGT	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.400C>T	X.37:g.150348455C>T	ENSP00000218316:p.Leu134Phe	Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	152	27	0.177632	NM_004224	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318460	0.40996	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.51071	0.72	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.35249	1.045	0.45852	D	0.998714	B;P	0.37423	0.026;0.594	B;B	0.40940	0.064;0.344	T	0.11891	-1.0569	10	0.29301	T	0.29	-19.0452	7.6173	0.28165	0.0:0.8782:0.0:0.1218	.	87;134	F5H1S3;Q13585	.;MTR1L_HUMAN	F	87;134	ENSP00000218316:L134F	ENSP00000218316:L134F	L	+	1	0	GPR50	150099113	1.000000	0.71417	0.999000	0.59377	0.720000	0.41350	2.687000	0.46976	1.838000	0.53458	0.523000	0.50628	CTC	.	.	none		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150348455	C	T	150348455	3	4	36	1	0	0	0	0	1	0	0	0	6697	681	24	2	406	2	GPR50	23	150348455	Missense_Mutation	SNP	C	TCGA-GS-A9U3-01A-11D-A38X-10	43201207	150348455	4922105	106	23737										
VMA21	203547	hgsc.bcm.edu	37	chrX	150573426	150573426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.06	6	1	0.864035087719298	2.88011695906433	0.757925515543244	0.102564102564103	0.280341880341882	0	atagggacagctatttttacGctgctattgttgcagtggtc	11	7	0	0			TCGA-GS-A9U3-01A-11D-A38X-10	TCGA-GS-A9U3-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	50af794e-c494-4546-be75-32392cfe1183	112ae0ce-a64e-4c94-92bc-27be6b47b249	g.chrX:150573426G>A	ENST00000330374.6	+	3	307	c.202G>A	c.(202-204)Gct>Act	p.A68T	VMA21_ENST00000370361.1_Missense_Mutation_p.A123T|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)									p.A68T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						CTATTTTTACGCTGCTATTGT	0.448																																					p.A68T		Atlas-SNP	.											.	VMA21	17	.	1	Substitution - Missense(1)	endometrium(1)	c.G202A						PASS	.						143	114	124					X																	150573426		2203	4300	6503	SO:0001583	missense	203547	exon3			TTTTACGCTGCTA	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"myopathy with excessive autophagy"	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.202G>A	X.37:g.150573426G>A	ENSP00000333255:p.Ala68Thr	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	146	35	0.239726	NM_001017980		Missense_Mutation	SNP	ENST00000330374.6	37	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	.	35	5.500966	0.96371	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.8	5.8	0.92144	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86029	0.1512	9	0.72032	D	0.01	-6.2343	16.2228	0.82267	0.0:0.0:1.0:0.0	.	68	Q3ZAQ7	VMA21_HUMAN	T	123;68	.	ENSP00000333255:A68T	A	+	1	0	VMA21	150324084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.823000	0.99369	2.434000	0.82447	0.600000	0.82982	GCT	.	.	none		0.448	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		A	150573426	G	A	150573426	3	1	36	1	0	0	0	0	1	0	0	0	17172	1087	38	1	212	1	VMA21	23	150573426	Missense_Mutation	SNP	G	TCGA-GS-A9U3-01A-11D-A38X-10	224971	150573426	4697134	107	23738										
CAMTA1	23261	hgsc.bcm.edu	37	chr1	7796527	7796527	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tgatccactcaaagactttcCgcggaatgaccctactccac	6	15	1	3			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:7796527C>G	ENST00000303635.7	+	13	3397	c.3190C>G	c.(3190-3192)Cgc>Ggc	p.R1064G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1064G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1064					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAGACTTTCCGCGGAATGAC	0.597			T	WWTR1	epitheliod hemangioendothelioma																																p.R1064G		Atlas-SNP	.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1	226	.	0			c.C3190G						PASS	.						136	122	127					1																	7796527		2203	4300	6503	SO:0001583	missense	23261	exon13			ACTTTCCGCGGAA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3190C>G	1.37:g.7796527C>G	ENSP00000306522:p.Arg1064Gly	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	92	9	0.0978261	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617775	0.66787	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	L	0.41824	1.3	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.995;0.998;0.991	T	0.52741	-0.8535	10	0.48119	T	0.1	-10.5237	14.4254	0.67212	0.1473:0.8526:0.0:0.0	.	1064;151;20;1064	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	G	1064;1064;151;20	ENSP00000306522:R1064G;ENSP00000402561:R1064G	ENSP00000306522:R1064G	R	+	1	0	CAMTA1	7719114	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	4.842000	0.62831	2.624000	0.88883	0.655000	0.94253	CGC	.	.	none		0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		G	7796527	C	G	7796527	3	3	37	1	0	0	0	0	1	0	0	0	2613	652	23	4	3240	4	CAMTA1	1	7796527	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10		7796527	241454094	1	23739										
DLGAP3	58512	hgsc.bcm.edu	37	chr1	35370945	35370945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ttggtcagcaaagcgggctgGgcggggatggctgcctcggt	19	9	1	0			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:35370945G>A	ENST00000373347.1	-	3	308	c.40C>T	c.(40-42)Cca>Tca	p.P14S	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.P14S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	14					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGCGGGCTGGGCGGGGATGG	0.642																																					p.P14S		Atlas-SNP	.											.	DLGAP3	107	.	0			c.C40T						PASS	.						4	4	4					1																	35370945		2095	4128	6223	SO:0001583	missense	58512	exon1			GGGCTGGGCGGGG	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.40C>T	1.37:g.35370945G>A	ENSP00000362444:p.Pro14Ser	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	63	8	0.126984	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	g	7.354	0.623400	0.14193	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25579	1.79;1.79	4.49	3.57	0.40892	.	0.177561	0.37483	N	0.002071	T	0.16342	0.0393	L	0.27053	0.805	0.33953	D	0.644702	B	0.26081	0.141	B	0.20955	0.032	T	0.17379	-1.0371	10	0.28530	T	0.3	-3.2976	10.9404	0.47270	0.0919:0.0:0.9081:0.0	.	14	O95886	DLGP3_HUMAN	S	14	ENSP00000362444:P14S;ENSP00000235180:P14S	ENSP00000235180:P14S	P	-	1	0	DLGAP3	35143532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.279000	0.51670	2.054000	0.61138	0.457000	0.33378	CCA	.	.	none		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35370945	G	A	35370945	3	1	37	1	0	0	0	0	1	0	0	0	4561	1232	43	2	2939	2	DLGAP3	1	35370945	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	27574418	35370945	213879676	2	23740										
HHLA3	11147	hgsc.bcm.edu	37	chr1	70832174	70832174	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ccagaccccaagagagcattCttggatctcttgcaagaaag	9	11	2	3	rs143161214		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:70832174C>G	ENST00000359875.5	+	2	445	c.305C>G	c.(304-306)tCt>tGt	p.S102C	HHLA3_ENST00000432224.1_Missense_Mutation_p.L103V|HHLA3_ENST00000361764.4_Missense_Mutation_p.F68L|HHLA3_ENST00000531950.1_Missense_Mutation_p.S102C|HHLA3_ENST00000370940.5_Missense_Mutation_p.L70V	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	102										large_intestine(3)|lung(1)	4						agagagcattcttggatctct	0.368																																					p.S102C		Atlas-SNP	.											.	HHLA3	11	.	0			c.C305G						PASS	.						13	15	14					1																	70832174		2182	4265	6447	SO:0001583	missense	11147	exon2			AGCATTCTTGGAT	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.305C>G	1.37:g.70832174C>G	ENSP00000352938:p.Ser102Cys	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	140	8	0.0571429	NM_001036645	D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	37	CCDS30753.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	3.184|3.184|3.184	-0.167279|-0.167279|-0.167279	0.06461|0.06461|0.06461	.|.|.	.|.|.	ENSG00000197568|ENSG00000197568|ENSG00000197568	ENST00000361764|ENST00000370940;ENST00000432224|ENST00000359875;ENST00000531950	.|.|.	.|.|.	.|.|.	0.137|0.137|0.137	0.137|0.137|0.137	0.14787|0.14787|0.14787	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.37019|0.37019|0.37019	0.0988|0.0988|0.0988	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|P|P	0.28667|0.37398|0.49696	0.219|0.593|0.927	B|P|P	0.39217|0.48114|0.58660	0.294|0.567|0.843	T|T|T	0.14559|0.14559|0.14559	-1.0468|-1.0468|-1.0468	6|6|6	0.02654|0.87932|0.87932	T|D|D	1|0|0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	68|70|102	Q9XRX5-3|Q9XRX5-2|Q9XRX5	.|.|HHLA3_HUMAN	L|V|C	68|70;103|102	.|.|.	ENSP00000354815:F68L|ENSP00000359978:L70V|ENSP00000352938:S102C	F|L|S	+|+|+	3|1|2	2|0|0	HHLA3|HHLA3|HHLA3	70604762|70604762|70604762	0.005000|0.005000|0.005000	0.15991|0.15991|0.15991	0.015000|0.015000|0.015000	0.15790|0.15790|0.15790	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	-0.771000|-0.771000|-0.771000	0.04699|0.04699|0.04699	0.291000|0.291000|0.291000	0.22468|0.22468|0.22468	0.297000|0.297000|0.297000	0.19635|0.19635|0.19635	TTC|CTT|TCT	C|1.000;A|0.000	.	alt		0.368	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		G	70832174	C	G	70832174	3	3	37	1	0	0	0	0	1	0	0	0	7096	913	32	4	311	4	HHLA3	1	70832174	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	35461229	70832174	178418447	3	23741										
PKN2	5586	hgsc.bcm.edu	37	chr1	89271287	89271287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	attctggcaccttcagccctCaagctcctgtgcctactaca	6	16	3	0			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:89271287C>G	ENST00000370521.3	+	11	1968	c.1609C>G	c.(1609-1611)Caa>Gaa	p.Q537E	PKN2_ENST00000370513.5_Missense_Mutation_p.Q489E|PKN2_ENST00000316005.7_Missense_Mutation_p.Q537E|PKN2_ENST00000544045.1_Missense_Mutation_p.Q211E|PKN2_ENST00000370505.3_Missense_Mutation_p.Q380E	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	537					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTTCAGCCCTCAAGCTCCTGT	0.443																																					p.Q537E		Atlas-SNP	.											.	PKN2	109	.	0			c.C1609G						PASS	.						67	66	67					1																	89271287		1960	4158	6118	SO:0001583	missense	5586	exon11			AGCCCTCAAGCTC	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1609C>G	1.37:g.89271287C>G	ENSP00000359552:p.Gln537Glu	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	122	8	0.0655738	NM_006256	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090208	0.08632	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.02	6.02	0.97574	.	0.000000	0.43260	U	0.000595	T	0.15219	0.0367	L	0.38175	1.15	0.48632	D	0.999685	B;B;B;B	0.20368	0.002;0.001;0.044;0.025	B;B;B;B	0.18561	0.002;0.002;0.022;0.02	T	0.19160	-1.0314	10	0.02654	T	1	.	20.5269	0.99230	0.0:1.0:0.0:0.0	.	521;489;537;537	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	E	537;537;380;489;211	ENSP00000359552:Q537E;ENSP00000317851:Q537E;ENSP00000359536:Q380E;ENSP00000359544:Q489E;ENSP00000439643:Q211E	ENSP00000317851:Q537E	Q	+	1	0	PKN2	89043875	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.144000	0.77357	2.859000	0.98148	0.591000	0.81541	CAA	.	.	none		0.443	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		G	89271287	C	G	89271287	3	3	37	1	0	0	0	0	1	0	0	0	11980	827	29	4	1651	4	PKN2	1	89271287	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	18439113	89271287	159979334	4	23742										
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842243	154842243	+	Silent	SNP	A	A	C													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tgctgctgctgctgctgctgAagctgcggaggctgaggctg							TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:154842243A>C	ENST00000271915.4	-	1	513	c.198T>G	c.(196-198)ctT>ctG	p.L66L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggag	0.701																																					p.L66L		Atlas-SNP	.											KCNN3,NS,carcinoma,0,3	KCNN3	141	3	0			c.T198G						scavenged	.						6	4	5					1																	154842243		1926	3811	5737	SO:0001819	synonymous_variant	3782	exon1			CTGCTGAAGCTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.198T>G	1.37:g.154842243A>C		Somatic	42	10	0.238095		WXS	Illumina HiSeq	Phase_I	46	12	0.26087	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842243	A	C	154842243	2	2	37	1	0	0	0	0	0	0	0	1	8080	233	9	5		5	KCNN3	1	154842243	Silent	SNP	A	TCGA-GS-A9U4-01A-11D-A38X-10	65570956	154842243	94408378	5	23743	485	2								
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc							TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																					p.L66H		Atlas-SNP	.											KCNN3,NS,carcinoma,+1,3	KCNN3	141	3	0			c.T197A						scavenged	.																																			SO:0001583	missense	3782	exon1			TGCTGAAGCTGCG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic	43	10	0.232558		WXS	Illumina HiSeq	Phase_I	46	12	0.26087	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	.	.	none		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842244	A	T	154842244	3	4	37	1	0	0	0	0	1	0	0	0	8080	72	3	5	2052	5	KCNN3	1	154842244	Missense_Mutation	SNP	A	TCGA-GS-A9U4-01A-11D-A38X-10	1	154842244	94408377	6	23744	485	2								
RANBP2	5903	hgsc.bcm.edu	37	chr2	109371659	109371659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ccaaaacaccacctcgatggGcagaagatcagaattcttta	7	11	2	3			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr2:109371659G>A	ENST00000283195.6	+	17	2536	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	804					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTCGATGGGCAGAAGATCA	0.308																																					p.A804T		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,2	RANBP2	488	2	0			c.G2410A						scavenged	.						140	163	155					2																	109371659		2199	4297	6496	SO:0001583	missense	5903	exon17			CGATGGGCAGAAG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2410G>A	2.37:g.109371659G>A	ENSP00000283195:p.Ala804Thr	Somatic	594	4	0.00673401		WXS	Illumina HiSeq	Phase_I	487	7	0.0143737	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919938	0.92249	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.19105	2.17	5.8	5.8	0.92144	.	.	.	.	.	T	0.34337	0.0894	L	0.34521	1.04	0.49130	D	0.999754	D	0.67145	0.996	P	0.58331	0.837	T	0.01532	-1.1331	9	0.54805	T	0.06	-13.8517	20.0609	0.97674	0.0:0.0:1.0:0.0	.	804	P49792	RBP2_HUMAN	T	804	ENSP00000283195:A804T	ENSP00000283195:A804T	A	+	1	0	RANBP2	108738091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.714000	0.74692	2.737000	0.93849	0.542000	0.68232	GCA	.	.	none		0.308	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109371659	G	A	109371659	3	1	37	1	0	0	0	0	1	0	0	0	13028	1203	42	2	2476	2	RANBP2	2	109371659	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		109371659	133827714	7	23745										
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147666	113147666	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ccacggcccttcttccggccCctaatatcctgagcctgtaa	7	17	1	1			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr2:113147666C>A	ENST00000302558.3	-	20	3047	c.2856G>T	c.(2854-2856)agG>agT	p.R952S	RGPD8_ENST00000409750.1_Missense_Mutation_p.R812S	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	952					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTTCCGGCCCCTAATATCCT	0.413																																					p.R952S		Atlas-SNP	.											RGPD8_ENST00000302558,NS,carcinoma,-1,2	RGPD8	81	2	0			c.G2856T						scavenged	.						170	130	143					2																	113147666		688	1572	2260	SO:0001583	missense	727851	exon20			CCGGCCCCTAATA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2856G>T	2.37:g.113147666C>A	ENSP00000306637:p.Arg952Ser	Somatic	793	52	0.0655738		WXS	Illumina HiSeq	Phase_I	684	63	0.0921053	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.797847	0.00004	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36340	1.26;1.26	2.33	2.33	0.28932	.	.	.	.	.	T	0.05410	0.0143	N	0.00067	-2.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	9	0.05525	T	0.97	-3.6976	3.1911	0.06618	0.5145:0.2459:0.0:0.2395	.	952	O14715	RGPD8_HUMAN	S	952;812	ENSP00000306637:R952S;ENSP00000386511:R812S	ENSP00000306637:R952S	R	-	3	2	RGPD8	112864137	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	0.325000	0.19628	0.153000	0.19213	-1.882000	0.00544	AGG	C|0.500;A|0.500	0.500	weak		0.413	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		A	113147666	C	A	113147666	3	1	37	1	0	0	0	0	1	0	0	0	13289	622	22	4	13471	4	RGPD5	2	113147666	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	3776007	113147666	130051707	8	23746										
JAKMIP1	152789	hgsc.bcm.edu	37	chr4	6086694	6086695	+	Splice_Site	INS	-	-	AA													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ctcgtccatatgttgatcctINSaaaaaaaaaaaaaaaaaaaa					rs56874913|rs67017941|rs144071388		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr4:6086694_6086695insAA	ENST00000282924.5	-	5	1320		c.e5-2		JAKMIP1_ENST00000457227.2_Splice_Site|JAKMIP1_ENST00000409831.1_Splice_Site|JAKMIP1_ENST00000410077.2_Splice_Site|JAKMIP1_ENST00000409021.3_Splice_Site|JAKMIP1_ENST00000409371.3_Splice_Site	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTTGATCCTaaaaaaaaaaa	0.351																																					.		Atlas-Indel	.											.	JAKMIP1	250	.	0			c.835-2->TT						PASS	.		,	1744,1548		789,166,691					,	4.8	1		dbSNP_130	65	4103,2451		1866,371,1040	no	splice-3,splice-3	JAKMIP1	NM_144720.3,NM_001099433.1	,	2655,537,1731	A1A1,A1R,RR		37.397,47.0231,40.6155	,	,		5847,3999				SO:0001630	splice_region_variant	152789	exon6			.	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.835-2->TT	4.37:g.6086703_6086704dupAA		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	46	11	0.23913	NM_001099433	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Splice_Site	INS	ENST00000282924.5	37	CCDS3385.1																																																																																			.	.	none		0.351	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	Intron	AA	6086695	-	AA	6086694	8	5	37	1	0	1	1	0	0	0	1	0	7940	1536	53	0	1805	0	JAKMIP1	4	6086694	Splice_Site	INS	-	TCGA-GS-A9U4-01A-11D-A38X-10		6086694	185067582	9	23747										
NEK1	4750	hgsc.bcm.edu	37	chr4	170509869	170509869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	atggggtccctatgcaagttCgagccagctctacagtacta	10	11	1	0			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr4:170509869C>T	ENST00000439128.2	-	7	1122	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	NEK1_ENST00000511633.1_Missense_Mutation_p.R161Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R161Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R161Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R161Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TATGCAAGTTCGAGCCAGCTC	0.343																																					p.R161Q		Atlas-SNP	.											.	NEK1	203	.	0			c.G482A						PASS	.						43	42	42					4																	170509869		1718	3745	5463	SO:0001583	missense	4750	exon8			CAAGTTCGAGCCA	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.482G>A	4.37:g.170509869C>T	ENSP00000408020:p.Arg161Gln	Somatic	275	0	0		WXS	Illumina HiSeq	Phase_I	176	23	0.130682	NM_001199399	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	36	5.684701	0.96784	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	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);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000023	T	0.66636	0.2809	N	0.11255	0.115	0.80722	D	1	D;D;D;D;D;D	0.89917	0.97;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.637;0.998;0.999;0.999;0.999;0.999	T	0.70594	-0.4829	10	0.48119	T	0.1	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	161;161;161;161;161;161	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	Q	161	ENSP00000408020:R161Q;ENSP00000423332:R161Q;ENSP00000427653:R161Q;ENSP00000424757:R161Q;ENSP00000424938:R161Q	ENSP00000408020:R161Q	R	-	2	0	NEK1	170746444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.492000	0.81482	2.857000	0.98124	0.650000	0.86243	CGA	.	.	none		0.343	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			T	170509869	C	T	170509869	3	4	37	1	0	0	0	0	1	0	0	0	10321	884	31	1	3406	1	NEK1	4	170509869	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	164423175	170509869	20644407	10	23748										
RPL37	6167	hgsc.bcm.edu	37	chr5	40832665	40832665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tttaggtgttgttccttcacGgaatccatgcctgcaggatg	11	9	1	0	rs368304251		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr5:40832665G>A	ENST00000274242.5	-	4	384	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000509877.1_Silent_p.S50S|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				GTTCCTTCACGGAATCCATGC	0.383																																					p.R79C	Colon(188;1411 2035 4978 19588 31462)	Atlas-SNP	.											RPL37,NS,carcinoma,0,1	RPL37	7	1	0			c.C235T						PASS	.	G	CYS/ARG	0,4406		0,0,2203	180	184	183		235	3.9	1	5		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	RPL37	NM_000997.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	79/98	40832665	1,13005	2203	4300	6503	SO:0001583	missense	6167	exon4			CTTCACGGAATCC	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"L ribosomal proteins"	10347	protein-coding gene	gene with protein product	"60S ribosomal protein L37a"	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.235C>T	5.37:g.40832665G>A	ENSP00000274242:p.Arg79Cys	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	145	8	0.0551724	NM_000997	B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919716	0.52653	0.0	1.16E-4	ENSG00000145592	ENST00000274242	T	0.53423	0.62	4.81	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.39253	0.1071	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20672	-1.0268	9	0.46703	T	0.11	.	12.9052	0.58147	0.0788:0.0:0.9212:0.0	.	79	P61927	RL37_HUMAN	C	79	ENSP00000274242:R79C	ENSP00000274242:R79C	R	-	1	0	RPL37	40868422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.595000	0.82710	1.023000	0.39654	0.563000	0.77884	CGT	.	.	weak		0.383	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		A	40832665	G	A	40832665	3	1	37	1	0	0	0	0	1	0	0	0	13589	1116	39	1	62	1	RPL37	5	40832665	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		40832665	140082595	11	23749										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71495880	71495880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	cattgagcagaacctgggcaAagctctaaagaaagatctga	10	8	2	5			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr5:71495880A>C	ENST00000296755.7	+	5	6996	c.6698A>C	c.(6697-6699)aAa>aCa	p.K2233T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2233					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AACCTGGGCAAAGCTCTAAAG	0.522																																					p.K2233T	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.A6698C						PASS	.						101	102	101					5																	71495880		2203	4300	6503	SO:0001583	missense	4131	exon5			TGGGCAAAGCTCT	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6698A>C	5.37:g.71495880A>C	ENSP00000296755:p.Lys2233Thr	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	50	5	0.1	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089024	0.55968	.	.	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.15696	0.0378	L	0.52364	1.645	0.51767	D	0.999934	D;D	0.61697	0.99;0.979	D;P	0.63957	0.92;0.702	T	0.00303	-1.1833	10	0.48119	T	0.1	-23.3459	16.1303	0.81428	1.0:0.0:0.0:0.0	.	2107;2233	A2BDK6;P46821	.;MAP1B_HUMAN	T	2233	ENSP00000296755:K2233T	ENSP00000296755:K2233T	K	+	2	0	MAP1B	71531636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.846000	0.92159	2.218000	0.71995	0.533000	0.62120	AAA	.	.	none		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		C	71495880	A	C	71495880	3	2	37	1	0	0	0	0	1	0	0	0	9228	14	1	5	6716	5	MAP1B	5	71495880	Missense_Mutation	SNP	A	TCGA-GS-A9U4-01A-11D-A38X-10	30663215	71495880	109419380	12	23750										
MICA	100507436	hgsc.bcm.edu	37	chr6	31380153	31380153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gacattccatgtttctgctgTtgctgctggctgctgctatt	10	10	1	0	rs199843678	byFrequency	TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr6:31380153T>C	ENST00000449934.2	+	5	998	c.944T>C	c.(943-945)gTt>gCt	p.V315A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GTTTCTGCTGTTGCTGCTGGC	0.458																																					p.V315A		Atlas-SNP	.											MICA,uveal_tract,malignant_melanoma,0,1	MICA	21	1	0			c.T944C						scavenged	.						288	263	270					6																	31380153		692	1591	2283	SO:0001583	missense	100507436	exon5			CTGCTGTTGCTGC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.944T>C	6.37:g.31380153T>C	ENSP00000413079:p.Val315Ala	Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	76	10	0.131579	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	-	2.519	-0.311081	0.05458	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01203	5.61;5.18	1.55	-2.91	0.05631	.	.	.	.	.	T	0.00178	0.0005	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27226	-1.0080	9	0.38643	T	0.18	.	6.6027	0.22708	0.0:0.3216:0.0:0.6784	.	177;315	Q5SS58;Q96QC4	.;.	A	177;315;272;315;206	ENSP00000413079:V315A;ENSP00000402410:V206A	ENSP00000365394:V315A	V	+	2	0	MICA	31488132	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-3.279000	0.00529	-0.980000	0.03524	-0.576000	0.04144	GTT	T|0.973;C|0.027	0.027	strong		0.458	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		C	31380153	T	C	31380153	3	2	37	1	0	0	0	0	1	0	0	0	9568	1725	60	2	962	2	MICA	6	31380153	Missense_Mutation	SNP	T	TCGA-GS-A9U4-01A-11D-A38X-10		31380153	139734914	13	23751										
HLA-DQA1	3117	hgsc.bcm.edu	37	chr6	32609169	32609169	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	acccatgaatttgatggagaTgagcagttctacgtggacct	11	8	1	4	rs1048027	byFrequency	TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr6:32609169T>C	ENST00000343139.5	+	2	267	c.165T>C	c.(163-165)gaT>gaC	p.D55D	HLA-DQA1_ENST00000374949.2_Silent_p.D55D|HLA-DQA1_ENST00000395363.1_Silent_p.D55D	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	55	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGATGGAGATGAGCAGTTCT	0.517													.|||	1615	0.322484	0.2693	0.4121	5008	,	,		13724	0.3442		0.3191	False		,,,				2504	0.3119				p.D55D		Atlas-SNP	.											HLA-DQA1,NS,neuroblastoma,+2,1	HLA-DQA1	52	1	0			c.T165C						scavenged	.						126	105	112					6																	32609169		2202	4278	6480	SO:0001819	synonymous_variant	3117	exon2			TGGAGATGAGCAG		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.165T>C	6.37:g.32609169T>C		Somatic	13	13	1		WXS	Illumina HiSeq	Phase_I	25	25	1	NM_002122	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	CCDS4752.1	683	0.31272893772893773	115	0.23373983739837398	132	0.36464088397790057	205	0.3583916083916084	231	0.30474934036939316	.	0.220	-1.029390	0.02045	.	.	ENSG00000196735	ENST00000486548	.	.	.	3.83	-6.07	0.02158	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.09310	P	0.999999999792641	.	.	.	.	.	.	T	0.20840	-1.0263	3	.	.	.	.	6.7941	0.23715	0.0:0.3362:0.1216:0.5422	rs1048027;rs1142322;rs3188013;rs3205984;rs3208180;rs9469265;rs28383444;rs33909584	.	.	.	T	28	.	.	M	+	2	0	HLA-DQA1	32717147	0.108000	0.22018	0.384000	0.26145	0.019000	0.09904	-1.829000	0.01701	-1.362000	0.02166	-1.294000	0.01345	ATG	T|0.665;C|0.335	0.335	strong		0.517	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609169	T	C	32609169	2	2	37	1	0	0	0	0	0	0	0	1	7204	1461	51	2		2	HLA-DQA1	6	32609169	Silent	SNP	T	TCGA-GS-A9U4-01A-11D-A38X-10	1229016	32609169	138505898	14	23752										
GAL3ST4	79690	hgsc.bcm.edu	37	chr7	99757593	99757593	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gtcttgaggggcagtgagacGgtaggggggaactgcttggc	20	6	1	2			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr7:99757593G>C	ENST00000360039.4	-	4	1811	c.1419C>G	c.(1417-1419)acC>acG	p.T473T	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000413800.1_Silent_p.T473T|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000426974.2_Silent_p.T411T	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	473					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTGAGACGGTAGGGGGGA	0.537																																					p.T473T		Atlas-SNP	.											.	GAL3ST4	59	.	0			c.C1419G						PASS	.						94	81	85					7																	99757593		2203	4300	6503	SO:0001819	synonymous_variant	79690	exon4			TGAGACGGTAGGG	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1419C>G	7.37:g.99757593G>C		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	63	6	0.0952381	NM_024637	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	CCDS5688.1																																																																																			.	.	none		0.537	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		C	99757593	G	C	99757593	2	2	37	1	0	0	0	0	0	0	0	1	6200	1103	39	4		4	GAL3ST4	7	99757593	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		99757593	59381070	15	23753										
UBE2R2	54926	hgsc.bcm.edu	37	chr9	33900200	33900200	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tgtatgcatttcgattcttcAtccgcctgtagatgacccac	7	12	2	2			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr9:33900200A>T	ENST00000263228.3	+	3	484	c.293A>T	c.(292-294)cAt>cTt	p.H98L		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	98					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TCGATTCTTCATCCGCCTGTA	0.403																																					p.H98L		Atlas-SNP	.											UBE2R2,NS,carcinoma,+1,1	UBE2R2	19	1	0			c.A293T						PASS	.						154	146	149					9																	33900200		2203	4300	6503	SO:0001583	missense	54926	exon3			TTCTTCATCCGCC	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.293A>T	9.37:g.33900200A>T	ENSP00000263228:p.His98Leu	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	153	11	0.0718954	NM_017811	D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	A	32	5.129742	0.94473	.	.	ENSG00000107341	ENST00000263228	T	0.37915	1.17	5.73	5.73	0.89815	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.71048	-0.4705	10	0.87932	D	0	-12.1031	15.6837	0.77393	1.0:0.0:0.0:0.0	.	98	Q712K3	UB2R2_HUMAN	L	98	ENSP00000263228:H98L	ENSP00000263228:H98L	H	+	2	0	UBE2R2	33890200	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.770000	0.91746	2.182000	0.69389	0.528000	0.53228	CAT	.	.	none		0.403	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		T	33900200	A	T	33900200	3	4	37	1	0	0	0	0	1	0	0	0	16868	217	8	5	303	5	UBE2R2	9	33900200	Missense_Mutation	SNP	A	TCGA-GS-A9U4-01A-11D-A38X-10		33900200	107313231	16	23754										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73225579	73225579	+	Silent	SNP	G	G	T													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tagaattcatagatttttctGccgagggggattaaccggtg							TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr9:73225579G>T	ENST00000377111.2	-	18	2820	c.2577C>A	c.(2575-2577)ggC>ggA	p.G859G	TRPM3_ENST00000377106.1_Silent_p.G731G|TRPM3_ENST00000357533.2_Silent_p.G863G|TRPM3_ENST00000396285.1_Silent_p.G706G|TRPM3_ENST00000358082.3_Silent_p.G721G|TRPM3_ENST00000423814.3_Silent_p.G886G|TRPM3_ENST00000360823.2_Silent_p.G721G|TRPM3_ENST00000396280.5_Silent_p.G708G|TRPM3_ENST00000396292.4_Silent_p.G731G|TRPM3_ENST00000377105.1_Silent_p.G718G|TRPM3_ENST00000377110.3_Silent_p.G859G|TRPM3_ENST00000408909.2_Silent_p.G718G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGATTTTTCTGCCGAGGGGGA	0.478																																					p.G859G		Atlas-SNP	.											TRPM3_ENST00000423814,NS,carcinoma,-2,3	TRPM3	700	3	0			c.C2577A						PASS	.						212	190	197					9																	73225579		2203	4300	6503	SO:0001819	synonymous_variant	80036	exon18			TTTTCTGCCGAGG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2577C>A	9.37:g.73225579G>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	99	9	0.0909091	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	9.856	1.195023	0.22037	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	4.21	0.49690	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51942	-0.8641	4	.	.	.	-26.6526	5.2178	0.15352	0.1719:0.0:0.5664:0.2617	.	.	.	.	K	708	.	.	Q	-	1	0	TRPM3	72415399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.191000	0.32138	1.631000	0.50456	0.655000	0.94253	CAG	.	.	none		0.478	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73225579	G	T	73225579	2	4	37	1	0	0	0	0	0	0	0	1	16584	1306	46	4		4	TRPM3	9	73225579	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	39325379	73225579	67987852	17	23755	486	2								
TRPM3	80036	hgsc.bcm.edu	37	chr9	73225580	73225580	+	Missense_Mutation	SNP	C	C	G													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	agaattcatagatttttctgCcgagggggattaaccggtgc							TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr9:73225580C>G	ENST00000377111.2	-	18	2819	c.2576G>C	c.(2575-2577)gGc>gCc	p.G859A	TRPM3_ENST00000377106.1_Missense_Mutation_p.G731A|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863A|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706A|TRPM3_ENST00000358082.3_Missense_Mutation_p.G721A|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886A|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721A|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708A|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731A|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718A|TRPM3_ENST00000377110.3_Missense_Mutation_p.G859A|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATTTTTCTGCCGAGGGGGAT	0.473																																					p.G859A		Atlas-SNP	.											TRPM3_ENST00000423814,NS,carcinoma,-1,3	TRPM3	700	3	0			c.G2576C						PASS	.						211	190	197					9																	73225580		2203	4300	6503	SO:0001583	missense	80036	exon18			TTTCTGCCGAGGG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2576G>C	9.37:g.73225580C>G	ENSP00000366315:p.Gly859Ala	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	100	9	0.09	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	C	16.76	3.211406	0.58343	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	D;D;D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	M	0.69823	2.125	0.80722	D	1	B;B;D;B;B;D;B;B	0.64830	0.049;0.021;0.994;0.066;0.066;0.981;0.336;0.354	B;B;D;B;B;P;B;B	0.64687	0.061;0.022;0.928;0.046;0.016;0.742;0.17;0.138	T	0.82682	-0.0336	10	0.15499	T	0.54	-26.6526	20.8794	0.99867	0.0:1.0:0.0:0.0	.	859;859;849;863;721;718;831;706	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	A	859;859;731;721;718;863;718;706;731;721;886	ENSP00000366315:G859A;ENSP00000366314:G859A;ENSP00000366310:G731A;ENSP00000354066:G721A;ENSP00000366309:G718A;ENSP00000350140:G863A;ENSP00000386127:G718A;ENSP00000379581:G706A;ENSP00000379587:G731A;ENSP00000350791:G721A;ENSP00000389542:G886A	ENSP00000350140:G863A	G	-	2	0	TRPM3	72415400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC	.	.	none		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		G	73225580	C	G	73225580	3	3	37	1	0	0	0	0	1	0	0	0	16584	739	26	4	2579	4	TRPM3	9	73225580	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	1	73225580	67987851	18	23756	486	2								
MUC6	4588	hgsc.bcm.edu	37	chr11	1017068	1017068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	agggatgtagaagttttggcCgtgctaaatgagcttgggga	16	4	0	2	rs78992004		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTTTTGGCCGTGCTAAATG	0.552																																					p.T1911T		Atlas-SNP	.											MUC6,NS,carcinoma,-1,1	MUC6	408	1	0			c.G5733A						scavenged	.																																			SO:0001819	synonymous_variant	4588	exon31			TTTGGCCGTGCTA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5733G>A	11.37:g.1017068C>T		Somatic	442	62	0.140271		WXS	Illumina HiSeq	Phase_I	332	47	0.141566	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			C|0.500;T|0.500	0.500	weak		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	37	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10		1017068	133989448	19	23757										
TRIM22	10346	hgsc.bcm.edu	37	chr11	5730437	5730437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ggctgccaatatttctcttcGgggaaatattactgggaagt	11	7	1	0	rs140700337	byFrequency	TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr11:5730437G>A	ENST00000379965.3	+	8	1333	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATTTCTCTTCGGGGAAATATT	0.413													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0				p.S352S	GBM(104;491 2336 5222)	Atlas-SNP	.											.	TRIM22	66	.	0			c.G1056A						PASS	.	G	,	17,3647		0,17,1815	131	123	126		1044,1056	2.5	0.6	11	dbSNP_134	126	0,8182		0,0,4091	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	0,17,5906	AA,AG,GG		0.0,0.464,0.1435	,	348/495,352/499	5730437	17,11829	1832	4091	5923	SO:0001819	synonymous_variant	10346	exon8			CTCTTCGGGGAAA	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1056G>A	11.37:g.5730437G>A		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	116	11	0.0948276	NM_006074	Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	CCDS41612.1																																																																																			G|0.993;A|0.007	0.007	strong		0.413	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		A	5730437	G	A	5730437	2	1	37	1	0	0	0	0	0	0	0	1	16493	1103	39	1		1	TRIM22	11	5730437	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	4713369	5730437	129276079	20	23758										
C11orf41	25758	hgsc.bcm.edu	37	chr11	33581343	33581343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	cagtcaccttggtgtacgtcGtgggcaatcagagcacattc	11	11	2	1	rs369439478		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr11:33581343G>A	ENST00000321505.4	+	6	3193	c.3013G>A	c.(3013-3015)Gtg>Atg	p.V1005M	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1011M|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1011M			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1005						integral component of membrane (GO:0016021)											GGTGTACGTCGTGGGCAATCA	0.582																																					p.V1005M		Atlas-SNP	.											.	.	.	.	0			c.G3013A						PASS	.	G	MET/VAL	0,4294		0,0,2147	102	102	102		3013	4.5	1	11		102	1,8491		0,1,4245	no	missense	C11orf41	NM_012194.2	21	0,1,6392	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	1005/1850	33581343	1,12785	2147	4246	6393	SO:0001583	missense	25758	exon6			TACGTCGTGGGCA	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3013G>A	11.37:g.33581343G>A	ENSP00000315295:p.Val1005Met	Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	53	9	0.169811	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291386	0.80914	0.0	1.18E-4	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.42	4.49	0.54785	.	0.119417	0.56097	D	0.000022	T	0.73590	0.3606	M	0.80847	2.515	0.29328	N	0.866907	D;D	0.89917	1.0;0.999	D;P	0.78314	0.991;0.814	T	0.73984	-0.3810	9	0.87932	D	0	-9.1816	15.7714	0.78173	0.0:0.0:0.8626:0.1374	.	1011;1011	E9PAT2;Q6ZVL6-2	.;.	M	1005;1011;1011;844	.	ENSP00000265654:V1011M	V	+	1	0	C11orf41	33537919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.357000	0.73051	1.389000	0.46526	0.573000	0.79308	GTG	.	.	weak		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33581343	G	A	33581343	3	1	37	1	0	0	0	0	1	0	0	0	1640	1145	40	1	3053	1	C11orf41	11	33581343	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	27850906	33581343	101425173	21	23759										
TNKS1BP1	85456	hgsc.bcm.edu	37	chr11	57081004	57081004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tcgatcaggggccggggtgaGgtggcagggggctgatccag	21	8	1	2			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr11:57081004G>A	ENST00000532437.1	-	4	1469	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.T386T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	386	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCGGGGTGAGGTGGCAGGGG	0.701																																					p.T386T		Atlas-SNP	.											.	TNKS1BP1	148	.	0			c.C1158T						PASS	.						14	16	15					11																	57081004		2187	4268	6455	SO:0001819	synonymous_variant	85456	exon5			GGGTGAGGTGGCA	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1158C>T	11.37:g.57081004G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	50	13	0.26	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																			.	.	none		0.701	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		A	57081004	G	A	57081004	2	1	37	1	0	0	0	0	0	0	0	1	16317	987	35	2		2	TNKS1BP1	11	57081004	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	23499661	57081004	77925512	22	23760										
PRB4	5545	hgsc.bcm.edu	37	chr12	11461738	11461738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ggtttcctccttgtgggggtGgtccttgtggctttcctgga	15	9	0	0	rs79562958		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr12:11461738G>C	ENST00000535904.1	-	3	212	c.179C>G	c.(178-180)cCa>cGa	p.P60R	PRB4_ENST00000279575.1_Missense_Mutation_p.P60R|PRB4_ENST00000445719.2_Missense_Mutation_p.P60R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	81	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTGGGGGTGGTCCTTGTGG	0.627										HNSCC(22;0.051)																											p.P60R		Atlas-SNP	.											PRB4,NS,carcinoma,0,1	PRB4	59	1	0			c.C179G						scavenged	.						209	226	220					12																	11461738		2201	4296	6497	SO:0001583	missense	5545	exon3			GGGGGTGGTCCTT		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.179C>G	12.37:g.11461738G>C	ENSP00000442834:p.Pro60Arg	Somatic	197	10	0.0507614		WXS	Illumina HiSeq	Phase_I	143	9	0.0629371	NM_001261399	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	1.271	-0.613089	0.03690	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05786	3.39;3.39;3.39	0.956	0.01	0.14081	.	.	.	.	.	T	0.03348	0.0097	N	0.25286	0.73	0.19300	N	0.999979	B	0.11235	0.004	B	0.06405	0.002	T	0.48091	-0.9065	9	0.07644	T	0.81	.	4.8976	0.13759	0.0:0.3926:0.6074:0.0	.	60	E9PAL0	.	R	60	ENSP00000279575:P60R;ENSP00000442834:P60R;ENSP00000412740:P60R	ENSP00000279575:P60R	P	-	2	0	PRB4	11353005	0.008000	0.16893	0.012000	0.15200	0.040000	0.13550	-0.216000	0.09266	-0.009000	0.14296	-1.127000	0.01993	CCA	C|1.000;|0.000	1.000	weak		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		C	11461738	G	C	11461738	3	2	37	1	0	0	0	0	1	0	0	0	12445	1348	47	4	568	4	PRB4	12	11461738	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		11461738	122390157	23	23761										
C12orf64	283310	hgsc.bcm.edu	37	chr12	80714313	80714313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ggcgaattcagcctttcatcGgagagcaacatttttccacc	8	12	2	1	rs369089877		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr12:80714313G>A	ENST00000547103.1	+	33	3893	c.3887G>A	c.(3886-3888)cGg>cAg	p.R1296Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.R1296Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1296					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCCTTTCATCGGAGAGCAACA	0.433																																					p.R1296Q		Atlas-SNP	.											OTOGL_ENST00000458043,NS,carcinoma,+1,1	OTOGL	235	1	0			c.G3887A						PASS	.	G	GLN/ARG	1,3779		0,1,1889	80	76	78		3887	-4.1	0.3	12		78	0,8246		0,0,4123	no	missense	OTOGL	NM_173591.3	43	0,1,6012	AA,AG,GG		0.0,0.0265,0.0083		1296/2345	80714313	1,12025	1890	4123	6013	SO:0001583	missense	283310	exon33			TTCATCGGAGAGC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3887G>A	12.37:g.80714313G>A	ENSP00000447211:p.Arg1296Gln	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	93	9	0.0967742	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	5.435	0.265401	0.10294	2.65E-4	0.0	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15718	2.4;2.4	5.53	-4.09	0.03951	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42396	-0.9454	7	0.07175	T	0.84	.	6.9939	0.24772	0.5056:0.0:0.3838:0.1106	.	.	.	.	Q	1296	ENSP00000447211:R1296Q;ENSP00000400895:R1296Q	ENSP00000400895:R1296Q	R	+	2	0	OTOGL	79238444	0.029000	0.19370	0.264000	0.24511	0.877000	0.50540	0.314000	0.19432	-0.957000	0.03627	-0.755000	0.03482	CGG	.	.	weak		0.433	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80714313	G	A	80714313	3	1	37	1	0	0	0	0	1	0	0	0	1707	1116	39	1	4017	1	C12orf64	12	80714313	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	69252575	80714313	53137582	24	23762										
KTN1	3895	hgsc.bcm.edu	37	chr14	56079010	56079010	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ccgactctgagagtgtacctCgagactttaaattatcagat	8	9	2	3			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr14:56079010C>T	ENST00000395314.3	+	2	312	c.244C>T	c.(244-246)Cga>Tga	p.R82*	KTN1_ENST00000416613.1_Nonsense_Mutation_p.R82*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.R82*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.R82*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.R82*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.R82*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.R82*	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	82					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						GAGTGTACCTCGAGACTTTAA	0.363			T	RET	papillary thryoid																																p.R82X		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1	147	.	0			c.C244T						PASS	.						74	78	77					14																	56079010		2203	4300	6503	SO:0001587	stop_gained	3895	exon2			GTACCTCGAGACT		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.244C>T	14.37:g.56079010C>T	ENSP00000378725:p.Arg82*	Somatic	188	0	0		WXS	Illumina HiSeq	Phase_I	145	19	0.131034	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Nonsense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445114	0.96187	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.63	4.75	0.60458	.	0.296616	0.24176	N	0.040855	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.098	14.4179	0.67163	0.0:0.9292:0.0:0.0708	.	.	.	.	X	82	.	ENSP00000378719:R82X	R	+	1	2	KTN1	55148763	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.425000	0.44723	1.379000	0.46325	0.591000	0.81541	CGA	.	.	none		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			T	56079010	C	T	56079010	4	4	37	1	0	0	0	0	0	1	0	0	8585	876	31	1	246	1	KTN1	14	56079010	Nonsense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10		56079010	51270530	25	23763										
MESP2	145873	hgsc.bcm.edu	37	chr15	90320146	90320146	+	Silent	SNP	G	G	A													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	caggggcaagggcaggggcaGgggcaggggcaagggcaggg					rs56192595|rs199821487|rs28546919		TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr15:90320146G>A	ENST00000341735.3	+	1	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	186	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ggcaggggcaggggcaggggc	0.781																																					p.Q186Q		Atlas-SNP	.											.	MESP2	20	.	0			c.G558A						PASS	.						2	2	2					15																	90320146		1056	2363	3419	SO:0001819	synonymous_variant	145873	exon1			GGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.558G>A	15.37:g.90320146G>A		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	24	17	0.708333	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			A|1.000;|0.000	1.000	weak		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320146	G	A	90320146	2	1	37	1	0	0	0	0	0	0	0	1	9483	991	35	2		2	MESP2	15	90320146	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		90320146	12211246	26	23764	487	2								
MESP2	145873	hgsc.bcm.edu	37	chr15	90320149	90320149	+	Silent	SNP	G	G	A													0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gggcaagggcaggggcagggGcaggggcaagggcaggggca							TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr15:90320149G>A	ENST00000341735.3	+	1	561	c.561G>A	c.(559-561)ggG>ggA	p.G187G	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	187	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaggggcaggggcaag	0.781																																					p.G187G		Atlas-SNP	.											.	MESP2	20	.	0			c.G561A						PASS	.						2	3	3					15																	90320149		1334	3199	4533	SO:0001819	synonymous_variant	145873	exon1			GCAGGGGCAGGGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.561G>A	15.37:g.90320149G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	22	8	0.363636	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																			.	.	none		0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320149	G	A	90320149	2	1	37	1	0	0	0	0	0	0	0	1	9483	1190	42	2		2	MESP2	15	90320149	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	3	90320149	12211243	27	23765	487	2								
GRIN2A	2903	hgsc.bcm.edu	37	chr16	9916205	9916205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gcatgtagggatagttattcCgaatgtttctctccgtgctt	10	8	1	0			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr16:9916205C>T	ENST00000396573.2	-	11	2393	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R695Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R695Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R538Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R695Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R695Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	695					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATAGTTATTCCGAATGTTTCT	0.458																																					p.R695Q		Atlas-SNP	.											.	GRIN2A	366	.	0			c.G2084A						PASS	.						167	142	150					16																	9916205		2197	4300	6497	SO:0001583	missense	2903	exon11			TTATTCCGAATGT		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2084G>A	16.37:g.9916205C>T	ENSP00000379818:p.Arg695Gln	Somatic	177	0	0		WXS	Illumina HiSeq	Phase_I	127	7	0.0551181	NM_000833	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	36	5.757827	0.96898	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	L	0.52266	1.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.921;0.953;0.992	T	0.34950	-0.9808	9	.	.	.	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	538;695;695	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Q	695;695;538;695;695	ENSP00000379818:R695Q;ENSP00000385872:R695Q;ENSP00000441572:R538Q;ENSP00000332549:R695Q;ENSP00000379820:R695Q	.	R	-	2	0	GRIN2A	9823706	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.943000	0.70211	2.655000	0.90218	0.655000	0.94253	CGG	.	.	none		0.458	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9916205	C	T	9916205	3	4	37	1	0	0	0	0	1	0	0	0	6779	652	23	1	2326	1	GRIN2A	16	9916205	Missense_Mutation	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10		9916205	80438548	28	23766										
CNGB1	1258	hgsc.bcm.edu	37	chr16	57918303	57918303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tggcggcctcctttgggtgcGtgtgctggtctggggcggcg	20	10	1	0			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr16:57918303G>A	ENST00000251102.8	-	33	3581	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M	CNGB1_ENST00000564448.1_Missense_Mutation_p.T1168M	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1174					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTTTGGGTGCGTGTGCTGGTC	0.701																																					p.T1174M	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.C3521T						PASS	.						21	23	23					16																	57918303		1970	4139	6109	SO:0001583	missense	1258	exon33			GGGTGCGTGTGCT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3521C>T	16.37:g.57918303G>A	ENSP00000251102:p.Thr1174Met	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	64	16	0.25	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798004	0.31777	.	.	ENSG00000070729	ENST00000251102	D	0.96716	-4.1	4.33	-1.25	0.09405	.	1.568360	0.04324	N	0.351159	D	0.88444	0.6438	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.002	T	0.79167	-0.1915	10	0.45353	T	0.12	.	0.7321	0.00959	0.292:0.1654:0.3729:0.1697	.	546;1174	Q14028-2;Q14028	.;CNGB1_HUMAN	M	1174	ENSP00000251102:T1174M	ENSP00000251102:T1174M	T	-	2	0	CNGB1	56475804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.110000	0.15437	-0.050000	0.13356	-0.982000	0.02568	ACG	.	.	none		0.701	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57918303	G	A	57918303	3	1	37	1	0	0	0	0	1	0	0	0	3600	1145	40	1	238	1	CNGB1	16	57918303	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	48002098	57918303	32436450	29	23767										
CDH3	1001	hgsc.bcm.edu	37	chr16	68712537	68712537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	gttgaataagccactggaccGggaggagattgccaagtatg	14	7	0	2			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr16:68712537G>A	ENST00000264012.4	+	5	1068	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	CDH3_ENST00000429102.2_Missense_Mutation_p.R175Q|CDH3_ENST00000581171.1_Missense_Mutation_p.R120Q	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	175	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACTGGACCGGGAGGAGATT	0.572																																					p.R175Q		Atlas-SNP	.											.	CDH3	68	.	2	Unknown(2)	breast(2)	c.G524A						PASS	.						89	92	91					16																	68712537		2198	4300	6498	SO:0001583	missense	1001	exon5			TGGACCGGGAGGA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.524G>A	16.37:g.68712537G>A	ENSP00000264012:p.Arg175Gln	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	35	6	0.171429	NM_001793	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512360	0.96402	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.59364	0.27;0.27	5.64	5.64	0.86602	Cadherin (5);Cadherin-like (1);	0.000000	0.38837	N	0.001542	D	0.84424	0.5469	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88804	0.3287	10	0.87932	D	0	.	17.243	0.87019	0.0:0.0:1.0:0.0	.	175	P22223	CADH3_HUMAN	Q	175;175;120	ENSP00000398485:R175Q;ENSP00000264012:R175Q	ENSP00000264012:R175Q	R	+	2	0	CDH3	67270038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.625000	0.98406	2.937000	0.99478	0.650000	0.86243	CGG	.	.	none		0.572	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		A	68712537	G	A	68712537	3	1	37	1	0	0	0	0	1	0	0	0	3111	1116	39	1	542	1	CDH3	16	68712537	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	10794234	68712537	21642216	30	23768										
PMFBP1	83449	hgsc.bcm.edu	37	chr16	72198813	72198813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	acttctctgtctctctccccCgcctaggcagccagaaaaac	6	17	3	1	rs550862432	byFrequency	TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr16:72198813C>T	ENST00000237353.10	-	3	276	c.15G>A	c.(13-15)gcG>gcA	p.A5A	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Silent_p.A5A|PMFBP1_ENST00000543746.1_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	5						cytoplasm (GO:0005737)		p.A5A(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCTCTCCCCCGCCTAGGCAG	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		20548	0.0		0.0	False		,,,				2504	0.002				p.A5A		Atlas-SNP	.											PMFBP1,NS,carcinoma,-1,2	PMFBP1	101	2	1	Substitution - coding silent(1)	endometrium(1)	c.G15A						PASS	.						51	48	49					16																	72198813		2198	4300	6498	SO:0001819	synonymous_variant	83449	exon3			CTCCCCCGCCTAG	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.15G>A	16.37:g.72198813C>T		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	33	6	0.181818	NM_031293	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	CCDS32483.1																																																																																			.	.	none		0.443	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		T	72198813	C	T	72198813	2	4	37	1	0	0	0	0	0	0	0	1	12134	639	23	1		1	PMFBP1	16	72198813	Silent	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10	3486276	72198813	18155940	31	23769										
MYH10	4628	hgsc.bcm.edu	37	chr17	8455392	8455392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	tgttctcctgctccagataaCaactggtaaaagatatgaaa	7	8	1	3			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr17:8455392C>T	ENST00000269243.4	-	8	999	c.861G>A	c.(859-861)ttG>ttA	p.L287L	MYH10_ENST00000379980.4_Silent_p.L303L|MYH10_ENST00000360416.3_Silent_p.L297L|MYH10_ENST00000396239.1_Silent_p.L287L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	287	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCAGATAACAACTGGTAAA	0.313																																					p.L297L		Atlas-SNP	.											.	MYH10	148	.	0			c.G891A						PASS	.						46	48	47					17																	8455392		2203	4300	6503	SO:0001819	synonymous_variant	4628	exon9			AGATAACAACTGG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.861G>A	17.37:g.8455392C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	161	15	0.0931677	NM_001256012	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																			.	.	none		0.313	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			T	8455392	C	T	8455392	2	4	37	1	0	0	0	0	0	0	0	1	10030	477	17	2		2	MYH10	17	8455392	Silent	SNP	C	TCGA-GS-A9U4-01A-11D-A38X-10		8455392	72739818	32	23770										
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385714	58385714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ccacattcataatgttttttTtcagtgtgaactctctgatg	6	8	3	2			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr19:58385714T>G	ENST00000435989.2	-	3	1278	c.1044A>C	c.(1042-1044)gaA>gaC	p.E348D	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	348					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTTTCAGTGTGAA	0.368																																					p.E348D		Atlas-SNP	.											ZNF814,NS,carcinoma,0,2	ZNF814	93	2	0			c.A1044C						scavenged	.						192	147	160					19																	58385714		692	1591	2283	SO:0001583	missense	730051	exon3			TTTTTTTTCAGTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1044A>C	19.37:g.58385714T>G	ENSP00000410545:p.Glu348Asp	Somatic	442	4	0.00904977		WXS	Illumina HiSeq	Phase_I	343	4	0.0116618	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	13.49	2.252737	0.39797	.	.	ENSG00000204514	ENST00000435989	T	0.18502	2.21	2.01	0.932	0.19466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.13371	0.34	0.19775	N	0.999954	B	0.15473	0.013	B	0.13407	0.009	T	0.30650	-0.9971	9	0.66056	D	0.02	.	5.8021	0.18420	0.0:0.152:0.0:0.848	.	348	B7Z6K7	ZN814_HUMAN	D	348	ENSP00000410545:E348D	ENSP00000410545:E348D	E	-	3	2	ZNF814	63077526	0.000000	0.05858	0.013000	0.15412	0.381000	0.30169	-0.928000	0.03980	0.089000	0.17243	0.113000	0.15668	GAA	.	.	none		0.368	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385714	T	G	58385714	3	3	37	1	0	0	0	0	1	0	0	0	18173	1838	64	5	1527	5	ZNF814	19	58385714	Missense_Mutation	SNP	T	TCGA-GS-A9U4-01A-11D-A38X-10		58385714	743269	33	23771										
MYH7B	26133	hgsc.bcm.edu	37	chr20	33588659	33588659	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ggaggctgcacaggagaggcGggaggctgaggagaaggcca	21	7	0	3			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chr20:33588659G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1798Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGGAGAGGCGGGAGGCTGAG	0.612																																					p.R1798Q		Atlas-SNP	.											MYH7B,NS,carcinoma,+1,1	MYH7B	145	1	0			c.G5393A						PASS	.						45	64	58					20																	33588659		2134	4257	6391	SO:0001628	intergenic_variant	57644	exon40			AGAGGCGGGAGGC	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588659G>A		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	6	0.142857	NM_020884	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692707	0.68271	.	.	ENSG00000078814	ENST00000262873	T	0.78246	-1.16	4.65	4.65	0.58169	Myosin tail (1);	0.000000	0.34580	N	0.003843	D	0.88779	0.6529	M	0.85859	2.78	0.49389	D	0.999786	D	0.76494	0.999	D	0.80764	0.994	D	0.88397	0.3012	10	0.35671	T	0.21	.	17.7847	0.88534	0.0:0.0:1.0:0.0	.	1756	A7E2Y1	MYH7B_HUMAN	Q	1798	ENSP00000262873:R1798Q	ENSP00000262873:R1798Q	R	+	2	0	MYH7B	33052320	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.797000	0.85911	2.433000	0.82419	0.558000	0.71614	CGG	.	.	none		0.612	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		A	33588659	G	A	33588659	1	1	37	0	1	0	0	0	0	0	0	0	10040	1116	39	1		1	MYH7B	20	33588659	IGR	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		33588659	29436861	34	23772										
MED12	9968	hgsc.bcm.edu	37	chrX	70352367	70352367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	ttcctcttcacgcaaagaacGtgatcgacaaaagcagaaga	8	10	2	4			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chrX:70352367G>A	ENST00000374080.3	+	31	4426	c.4394G>A	c.(4393-4395)cGt>cAt	p.R1465H	MED12_ENST00000374102.1_Missense_Mutation_p.R1465H|MED12_ENST00000333646.6_Missense_Mutation_p.R1465H			Q93074	MED12_HUMAN	mediator complex subunit 12	1465					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGCAAAGAACGTGATCGACAA	0.522			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.R1465H		Atlas-SNP	.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	.	0			c.G4394A						PASS	.						50	46	47					X																	70352367		1904	4122	6026	SO:0001583	missense	9968	exon31			AAGAACGTGATCG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4394G>A	X.37:g.70352367G>A	ENSP00000363193:p.Arg1465His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	106	11	0.103774	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673341	0.88445	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84873	-1.91;-1.91;-1.91;-1.91;1.26	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.74348	0.983;0.968;0.977;0.961	D	0.92570	0.6065	10	0.72032	D	0.01	-10.5615	16.1804	0.81895	0.0:0.0:1.0:0.0	.	1465;1312;1465;1465	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	1465;1465;1465;1465;1433;210	ENSP00000333125:R1465H;ENSP00000363215:R1465H;ENSP00000363193:R1465H;ENSP00000414203:R1433H;ENSP00000408388:R210H	ENSP00000333125:R1465H	R	+	2	0	MED12	70269092	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	8.933000	0.92911	2.071000	0.62044	0.523000	0.50628	CGT	.	.	none		0.522	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70352367	G	A	70352367	3	1	37	1	0	0	0	0	1	0	0	0	9428	1145	40	1	4516	1	MED12	23	70352367	Missense_Mutation	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10		70352367	84918193	35	23773										
RAB40A	142684	hgsc.bcm.edu	37	chrX	102755451	102755451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.613693153423288	2.82298850574713	0	0.333333333333333	0.621212121212121	0	cgagagtaggagcggaatatGgtacaaaatcttccctgccc	11	10	1	1			TCGA-GS-A9U4-01A-11D-A38X-10	TCGA-GS-A9U4-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4b7512d6-8e65-47d9-98ca-1fe4bd7c455f	22fb535e-5b36-4add-ba3f-997cb70efcff	g.chrX:102755451G>A	ENST00000372633.1	-	1	2352	c.234C>T	c.(232-234)acC>acT	p.T78T	RAB40A_ENST00000304236.1_Silent_p.T78T|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	78					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AGCGGAATATGGTACAAAATC	0.542																																					p.T78T		Atlas-SNP	.											.	RAB40A	30	.	0			c.C234T						PASS	.						67	60	62					X																	102755451		2202	4279	6481	SO:0001819	synonymous_variant	142684	exon3			GAATATGGTACAA	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.234C>T	X.37:g.102755451G>A		Somatic	461	0	0		WXS	Illumina HiSeq	Phase_I	350	25	0.0714286	NM_080879	O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	CCDS35357.1																																																																																			.	.	none		0.542	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			A	102755451	G	A	102755451	2	1	37	1	0	0	0	0	0	0	0	1	12939	1335	47	2		2	RAB40A	23	102755451	Silent	SNP	G	TCGA-GS-A9U4-01A-11D-A38X-10	32403084	102755451	52515109	36	23774										
SLC45A1	50651	hgsc.bcm.edu	37	chr1	8390800	8390800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cggcttctaccgccaggaccGtggacttctggagggcagag	15	12	2	1	rs370439504		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:8390800G>A	ENST00000471889.1	+	5	1632	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R416H|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R450H|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	416					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCAGGACCGTGGACTTCTG	0.687																																					p.R416H		Atlas-SNP	.											.	SLC45A1	85	.	0			c.G1247A						PASS	.	G	HIS/ARG	0,4404		0,0,2202	30	32	32		1247	-0.2	0.1	1		32	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A1	NM_001080397.1	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	416/749	8390800	1,13003	2202	4300	6502	SO:0001583	missense	50651	exon4			AGGACCGTGGACT	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1247G>A	1.37:g.8390800G>A	ENSP00000418096:p.Arg416His	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	59	34	0.576271	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349538	0.24426	0.0	1.16E-4	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.18174	2.24;2.23;2.24	4.8	-0.234	0.13074	.	1.040590	0.07531	N	0.912288	T	0.14570	0.0352	L	0.36672	1.1	0.19775	N	0.999954	B	0.06786	0.001	B	0.01281	0.0	T	0.34725	-0.9817	10	0.45353	T	0.12	-10.1951	9.9895	0.41863	0.8358:0.0:0.1642:0.0	.	416	Q9Y2W3	S45A1_HUMAN	H	416;450;416	ENSP00000418096:R416H;ENSP00000366699:R450H;ENSP00000289877:R416H	ENSP00000289877:R416H	R	+	2	0	SLC45A1	8313387	0.006000	0.16342	0.068000	0.19968	0.535000	0.34838	0.743000	0.26231	-0.196000	0.10366	0.561000	0.74099	CGT	.	.	none		0.687	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			A	8390800	G	A	8390800	3	1	38	1	0	0	0	0	1	0	0	0	14640	1145	40	1	1261	1	SLC45A1	1	8390800	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		8390800	240859821	1	23775										
SLC45A1	50651	hgsc.bcm.edu	37	chr1	8399646	8399646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggggaccgggcttgccacccTctccaggaacctctacgtgg	13	15	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:8399646T>C	ENST00000471889.1	+	8	2253	c.1868T>C	c.(1867-1869)cTc>cCc	p.L623P	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L657P|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L623P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	623					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCCACCCTCTCCAGGAAC	0.577																																					p.L623P		Atlas-SNP	.											.	SLC45A1	85	.	0			c.T1868C						PASS	.						176	158	164					1																	8399646		2203	4300	6503	SO:0001583	missense	50651	exon7			CCACCCTCTCCAG	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1868T>C	1.37:g.8399646T>C	ENSP00000418096:p.Leu623Pro	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	95	4	0.0421053	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471360	0.63737	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92858	-3.12;-3.12;-3.12	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);	0.075695	0.64402	D	0.000012	D	0.96005	0.8699	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96576	0.9427	10	0.87932	D	0	-36.5672	14.0943	0.65010	0.0:0.0:0.0:1.0	.	623	Q9Y2W3	S45A1_HUMAN	P	623;657;623	ENSP00000418096:L623P;ENSP00000366699:L657P;ENSP00000289877:L623P	ENSP00000289877:L623P	L	+	2	0	SLC45A1	8322233	1.000000	0.71417	0.841000	0.33234	0.417000	0.31264	7.574000	0.82434	1.908000	0.55244	0.454000	0.30748	CTC	.	.	none		0.577	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			C	8399646	T	C	8399646	3	2	38	1	0	0	0	0	1	0	0	0	14640	1551	54	3	1894	3	SLC45A1	1	8399646	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	8846	8399646	240850975	2	23776										
TIE1	7075	hgsc.bcm.edu	37	chr1	43779453	43779453	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctctcactgtgtccagggctGcaggctgagggcccagtcca	13	14	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:43779453G>T	ENST00000372476.3	+	14	2302	c.2223G>T	c.(2221-2223)ctG>ctT	p.L741L	TIE1_ENST00000433781.2_Silent_p.L386L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	741					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCCAGGGCTGCAGGCTGAGG	0.637																																					p.L741L		Atlas-SNP	.											.	TIE1	132	.	0			c.G2223T						PASS	.						22	25	24					1																	43779453		2203	4300	6503	SO:0001819	synonymous_variant	7075	exon14			AGGGCTGCAGGCT	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2223G>T	1.37:g.43779453G>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	49	31	0.632653	NM_005424	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																			.	.	none		0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		T	43779453	G	T	43779453	2	4	38	1	0	0	0	0	0	0	0	1	15890	1306	46	4		4	TIE1	1	43779453	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	35379807	43779453	205471168	3	23777										
TMEM59	9528	hgsc.bcm.edu	37	chr1	54509073	54509073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ataactatttttccgtcatcGgcttgaagataaaaagtcca	6	8	1	2	rs202004864	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:54509073G>T	ENST00000234831.5	-	4	765	c.516C>A	c.(514-516)gcC>gcA	p.A172A	TMEM59_ENST00000371348.1_Silent_p.A41A|TMEM59_ENST00000371341.1_Silent_p.A41A|TMEM59_ENST00000371344.1_Silent_p.A41A	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	172					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TTCCGTCATCGGCTTGAAGAT	0.388																																					p.A172A		Atlas-SNP	.											TMEM59,NS,carcinoma,0,1	TMEM59	28	1	0			c.C516A						scavenged	.						80	83	82					1																	54509073		2203	4300	6503	SO:0001819	synonymous_variant	9528	exon4			GTCATCGGCTTGA	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.516C>A	1.37:g.54509073G>T		Somatic	257	0	0		WXS	Illumina HiSeq	Phase_I	192	3	0.015625	NM_004872	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	ENST00000234831.5	37	CCDS586.1																																																																																			G|1.000;A|0.000	.	alt		0.388	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		T	54509073	G	T	54509073	2	4	38	1	0	0	0	0	0	0	0	1	16182	1103	39	4		4	TMEM59	1	54509073	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	10729620	54509073	194741548	4	23778										
USP24	23358	hgsc.bcm.edu	37	chr1	55622939	55622939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcaacttaccttccagtgcAatcgacagaactgagttttc	7	11	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:55622939A>C	ENST00000294383.6	-	11	1331	c.1332T>G	c.(1330-1332)atT>atG	p.I444M	USP24_ENST00000407756.1_Missense_Mutation_p.I332M	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	444					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						CTTCCAGTGCAATCGACAGAA	0.289																																					p.I444M		Atlas-SNP	.											.	USP24	323	.	0			c.T1332G						PASS	.						74	68	70					1																	55622939		1813	4073	5886	SO:0001583	missense	23358	exon11			CAGTGCAATCGAC	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.1332T>G	1.37:g.55622939A>C	ENSP00000294383:p.Ile444Met	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	159	97	0.610063	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340683	0.41498	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.80033	-1.33;-1.33	5.93	0.863	0.19062	.	0.057109	0.64402	D	0.000003	T	0.71005	0.3289	L	0.49126	1.545	0.35414	D	0.792651	P	0.44578	0.838	B	0.42422	0.387	T	0.69632	-0.5093	10	0.46703	T	0.11	.	4.0534	0.09806	0.5186:0.0:0.2415:0.2399	.	332	B7WPF4	.	M	444;332	ENSP00000294383:I444M;ENSP00000385700:I332M	ENSP00000294383:I444M	I	-	3	3	USP24	55395527	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	2.338000	0.43957	0.140000	0.18849	-1.518000	0.00936	ATT	.	.	none		0.289	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55622939	A	C	55622939	3	2	38	1	0	0	0	0	1	0	0	0	17052	126	5	5	6762	5	USP24	1	55622939	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	1113866	55622939	193627682	5	23779										
C8A	731	hgsc.bcm.edu	37	chr1	57378088	57378088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcccacagatgcagcctatcCacgaggtgctgcggcacaca	11	15	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:57378088C>T	ENST00000361249.3	+	10	1489	c.1393C>T	c.(1393-1395)Cac>Tac	p.H465Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	465	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGCCTATCCACGAGGTGCT	0.617																																					p.H465Y		Atlas-SNP	.											.	C8A	103	.	0			c.C1393T						PASS	.						38	40	39					1																	57378088		2203	4299	6502	SO:0001583	missense	731	exon10			CCTATCCACGAGG	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1393C>T	1.37:g.57378088C>T	ENSP00000354458:p.His465Tyr	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	79	47	0.594937	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	0.288	-0.981797	0.02197	.	.	ENSG00000157131	ENST00000361249	D	0.83837	-1.77	5.55	-5.79	0.02354	Membrane attack complex component/perforin (MACPF) domain (3);	0.486260	0.24917	N	0.034574	T	0.54127	0.1839	N	0.05383	-0.06	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.56829	-0.7914	10	0.02654	T	1	-3.2246	9.1379	0.36886	0.0:0.3531:0.1005:0.5464	.	465	P07357	CO8A_HUMAN	Y	465	ENSP00000354458:H465Y	ENSP00000354458:H465Y	H	+	1	0	C8A	57150676	0.000000	0.05858	0.012000	0.15200	0.003000	0.03518	-0.562000	0.05950	-0.689000	0.05149	-0.748000	0.03510	CAC	.	.	none		0.617	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57378088	C	T	57378088	3	4	38	1	0	0	0	0	1	0	0	0	2416	594	21	2	1431	2	C8A	1	57378088	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1755149	57378088	191872533	6	23780										
GPR88	54112	hgsc.bcm.edu	37	chr1	101004706	101004706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcgtgtcgtccttccgaaagCtgcagaccaccagcaacgcc	9	16	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:101004706C>T	ENST00000315033.4	+	2	623	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	62					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CTTCCGAAAGCTGCAGACCAC	0.677																																					p.L62L		Atlas-SNP	.											.	GPR88	17	.	0			c.C184T						PASS	.						40	37	38					1																	101004706		2203	4300	6503	SO:0001819	synonymous_variant	54112	exon2			CGAAAGCTGCAGA	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.184C>T	1.37:g.101004706C>T		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	94	40	0.425532	NM_022049	Q29S24|Q6VN48	Silent	SNP	ENST00000315033.4	37	CCDS772.1																																																																																			.	.	none		0.677	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049		T	101004706	C	T	101004706	2	4	38	1	0	0	0	0	0	0	0	1	6717	796	28	2		2	GPR88	1	101004706	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	43626618	101004706	148245915	7	23781										
C1orf183	55924	hgsc.bcm.edu	37	chr1	112269753	112269753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcttcttgaccttctgtgagCggccggttcgggactcaggg	15	11	3	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:112269753C>T	ENST00000357260.5	-	2	912	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.R229H	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	244										cervix(1)|endometrium(1)	2						CTTCTGTGAGCGGCCGGTTCG	0.617																																					p.R244H		Atlas-SNP	.											.	FAM212B	17	.	0			c.G731A						PASS	.						61	66	64					1																	112269753		2203	4300	6503	SO:0001583	missense	55924	exon2			TGTGAGCGGCCGG	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.731G>A	1.37:g.112269753C>T	ENSP00000349805:p.Arg244His	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	56	39	0.696429	NM_019099	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696087	0.48202	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	4.93	4.93	0.64822	.	0.061291	0.64402	D	0.000012	T	0.51092	0.1654	L	0.32530	0.975	0.34183	D	0.671209	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.56823	-0.7915	9	0.51188	T	0.08	-18.9743	13.6697	0.62418	0.0:1.0:0.0:0.0	.	229;244	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	H	244;229	.	ENSP00000349805:R244H	R	-	2	0	C1orf183	112071276	1.000000	0.71417	0.569000	0.28460	0.039000	0.13416	6.056000	0.71111	2.287000	0.76781	0.555000	0.69702	CGC	.	.	none		0.617	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		T	112269753	C	T	112269753	3	4	38	1	0	0	0	0	1	0	0	0	2019	768	27	1	166	1	C1orf183	1	112269753	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	11265047	112269753	136980868	8	23782										
UBAP2L	9898	hgsc.bcm.edu	37	chr1	154209612	154209612	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttgaaccagatgatgggacgAgtgagtgaccatttatcatt	11	6	1	5			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:154209612A>G	ENST00000361546.2	+	7	745	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	UBAP2L_ENST00000271877.7_Splice_Site_p.S246G|UBAP2L_ENST00000428931.1_Splice_Site_p.S235G|UBAP2L_ENST00000343815.6_Splice_Site_p.S235G			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	235					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGGGACGAGTGAGTGACC	0.398																																					p.S235G		Atlas-SNP	.											.	UBAP2L	197	.	0			c.A703G						PASS	.						125	102	110					1																	154209612		2203	4300	6503	SO:0001630	splice_region_variant	9898	exon8			GGGACGAGTGAGT	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.703+1A>G	1.37:g.154209612A>G		Somatic	273	1	0.003663		WXS	Illumina HiSeq	Phase_I	183	98	0.535519	NM_001127320	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574611	0.13623	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000361546	T;T;T;T;T;T;T	0.41400	2.87;2.87;2.84;1.01;1.02;1.0;2.87	5.68	5.68	0.88126	.	0.281854	0.44285	D	0.000464	T	0.08088	0.0202	N	0.01242	-0.935	0.31470	N	0.668466	P;B;P;P;P	0.49783	0.882;0.008;0.928;0.928;0.788	B;B;P;P;B	0.46975	0.332;0.004;0.533;0.533;0.287	T	0.10894	-1.0610	10	0.02654	T	1	0.5595	15.1058	0.72322	1.0:0.0:0.0:0.0	.	149;246;228;235;235	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	G	235;235;246;235;246;228;235	ENSP00000345308:S235G;ENSP00000389445:S235G;ENSP00000271877:S246G;ENSP00000389052:S235G;ENSP00000357490:S246G;ENSP00000389717:S228G;ENSP00000355343:S235G	ENSP00000271877:S246G	S	+	1	0	UBAP2L	152476236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.569000	0.60865	2.161000	0.67846	0.482000	0.46254	AGT	.	.	none		0.398	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	Missense_Mutation	G	154209612	A	G	154209612	5	3	38	1	0	0	0	0	0	0	1	0	16835	318	11	3	729	3	UBAP2L	1	154209612	Splice_Site	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	41939859	154209612	95041009	9	23783										
FCRL3	115352	hgsc.bcm.edu	37	chr1	157665375	157665375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gccctgggagccctgaaggtGaggacagggtgagataccgg	18	9	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:157665375G>A	ENST00000368184.3	-	8	1446	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.L385L|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	385	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCCTGAAGGTGAGGACAGGGT	0.562																																					p.L385L		Atlas-SNP	.											.	FCRL3	163	.	0			c.C1155T						PASS	.						38	39	39					1																	157665375		2203	4300	6503	SO:0001819	synonymous_variant	115352	exon8			GAAGGTGAGGACA	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1155C>T	1.37:g.157665375G>A		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	100	56	0.56	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																			.	.	none		0.562	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		A	157665375	G	A	157665375	2	1	38	1	0	0	0	0	0	0	0	1	5796	1277	45	2		2	FCRL3	1	157665375	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3455763	157665375	91585246	10	23784										
IGSF8	93185	hgsc.bcm.edu	37	chr1	160063649	160063649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cccctactaccatgcggtacCgatcggtcccttccttgccc	7	19	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:160063649C>T	ENST00000368086.1	-	3	971	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	IGSF8_ENST00000314485.7_Missense_Mutation_p.R252Q|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	252	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATGCGGTACCGATCGGTCCC	0.642																																					p.R252Q		Atlas-SNP	.											.	IGSF8	59	.	0			c.G755A						PASS	.						65	54	58					1																	160063649		2203	4300	6503	SO:0001583	missense	93185	exon3			CGGTACCGATCGG	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.755G>A	1.37:g.160063649C>T	ENSP00000357065:p.Arg252Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	58	33	0.568965	NM_052868	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902158	0.17760	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.21191	2.02;2.02;2.02	3.74	1.85	0.25348	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.515891	0.17879	N	0.158924	T	0.02119	0.0066	N	0.08118	0	0.24433	N	0.994565	B	0.20164	0.042	B	0.08055	0.003	T	0.44236	-0.9341	10	0.15499	T	0.54	-16.8689	3.1886	0.06609	0.0:0.4775:0.2166:0.3059	.	252	Q969P0	IGSF8_HUMAN	Q	252	ENSP00000316664:R252Q;ENSP00000357065:R252Q;ENSP00000397464:R252Q	ENSP00000316664:R252Q	R	-	2	0	IGSF8	158330273	0.001000	0.12720	0.694000	0.30210	0.499000	0.33736	0.560000	0.23500	0.930000	0.37217	0.491000	0.48974	CGG	.	.	none		0.642	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		T	160063649	C	T	160063649	3	4	38	1	0	0	0	0	1	0	0	0	7604	652	23	1	1102	1	IGSF8	1	160063649	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2398274	160063649	89186972	11	23785										
CRB1	23418	hgsc.bcm.edu	37	chr1	197390429	197390429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccacactttcatttgagggcGatggcttcctgtgggtcaaa	11	10	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:197390429G>A	ENST00000367400.3	+	6	1606	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	CRB1_ENST00000367399.2_Missense_Mutation_p.D379N|CRB1_ENST00000367397.1_De_novo_Start_OutOfFrame|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.D190N|CRB1_ENST00000538660.1_Missense_Mutation_p.D491N|CRB1_ENST00000535699.1_Missense_Mutation_p.D422N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	491	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		D -> V (found in a patient with early- onset retinal dystrophy; unknown pathological significance). {ECO:0000269|PubMed:20683928}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D491N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGAGGGCGATGGCTTCCT	0.517																																					p.D491N		Atlas-SNP	.											CRB1,bladder,carcinoma,0,1	CRB1	284	1	1	Substitution - Missense(1)	urinary_tract(1)	c.G1471A						PASS	.						108	97	101					1																	197390429		2203	4300	6503	SO:0001583	missense	23418	exon6			GAGGGCGATGGCT		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1471G>A	1.37:g.197390429G>A	ENSP00000356370:p.Asp491Asn	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	69	40	0.57971	NM_001257966	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.762289	0.00651	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.82	-0.494	0.12034	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.35828	0.0945	N	0.00193	-1.875	0.28017	N	0.934662	B;B;B;B;B	0.10296	0.002;0.0;0.003;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.0	T	0.40701	-0.9549	9	0.11182	T	0.66	.	7.0169	0.24892	0.6755:0.112:0.2124:0.0	.	491;422;379;140;491	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	N	422;491;491;379;190;140	ENSP00000438786:D422N;ENSP00000438091:D491N;ENSP00000356370:D491N;ENSP00000356369:D379N;ENSP00000439579:D190N	ENSP00000356369:D379N	D	+	1	0	CRB1	195657052	0.013000	0.17824	0.007000	0.13788	0.001000	0.01503	0.490000	0.22403	-0.339000	0.08401	-1.283000	0.01379	GAT	.	.	none		0.517	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197390429	G	A	197390429	3	1	38	1	0	0	0	0	1	0	0	0	3848	1058	37	1	1493	1	CRB1	1	197390429	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	37326780	197390429	51860192	12	23786										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274836	203274836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggctgcgtgagcgagcagagGcttaaggtcttcagcggggc	18	9	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:203274836G>A	ENST00000290551.4	+	1	173	c.102G>A	c.(100-102)agG>agA	p.R34R	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	34					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCGAGCAGAGGCTTAAGGTCT	0.716																																					p.R34R		Atlas-SNP	.											.	BTG2	16	.	0			c.G102A						PASS	.						15	16	15					1																	203274836		2144	4202	6346	SO:0001819	synonymous_variant	7832	exon1			GCAGAGGCTTAAG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.102G>A	1.37:g.203274836G>A		Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	78	27	0.346154	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.716	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		A	203274836	G	A	203274836	2	1	38	1	0	0	0	0	0	0	0	1	1554	1194	42	2		2	BTG2	1	203274836	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5884407	203274836	45975785	13	23787										
RCOR3	55758	hgsc.bcm.edu	37	chr1	211486068	211486068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actttgccttccaggtgtccGcaaatatggtaaagattttc	8	9	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr1:211486068G>A	ENST00000367005.4	+	10	1049	c.908G>A	c.(907-909)cGc>cAc	p.R303H	RCOR3_ENST00000452621.2_Missense_Mutation_p.R361H|RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Missense_Mutation_p.R361H|RCOR3_ENST00000526255.1_3'UTR	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	303	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCAGGTGTCCGCAAATATGGT	0.398																																					p.R361H		Atlas-SNP	.											RCOR3,NS,carcinoma,+1,1	RCOR3	51	1	0			c.G1082A						scavenged	.						101	102	101					1																	211486068		2203	4300	6503	SO:0001583	missense	55758	exon11			GTGTCCGCAAATA	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.908G>A	1.37:g.211486068G>A	ENSP00000355972:p.Arg303His	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	120	4	0.0333333	NM_001136223	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865091	0.71949	.	.	ENSG00000117625	ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.22	5.22	0.72569	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.90483	3.12	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.985;0.999;0.998	T	0.77859	-0.2431	10	0.59425	D	0.04	-5.1021	19.1219	0.93365	0.0:0.0:1.0:0.0	.	361;303;361	Q9P2K3-3;Q9P2K3;Q9P2K3-4	.;RCOR3_HUMAN;.	H	361;361;303;121	ENSP00000398558:R361H;ENSP00000413929:R361H;ENSP00000355972:R303H;ENSP00000437048:R121H	ENSP00000355972:R303H	R	+	2	0	RCOR3	209552691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.685000	0.98661	2.590000	0.87494	0.650000	0.86243	CGC	.	.	none		0.398	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		A	211486068	G	A	211486068	3	1	38	1	0	0	0	0	1	0	0	0	13184	1087	38	1	1124	1	RCOR3	1	211486068	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	8211232	211486068	37764553	14	23788										
PLB1	151056	hgsc.bcm.edu	37	chr2	28772953	28772953	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	accccaagacaagcttgaggTaaggaaaggttttctgtaat	10	7	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:28772953T>G	ENST00000327757.5	+	16	1127		c.e16+2		PLB1_ENST00000329020.6_Splice_Site|PLB1_ENST00000422425.2_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGCTTGAGGTAAGGAAAGGT	0.448																																					.		Atlas-SNP	.											.	PLB1	255	.	0			c.1083+2T>G						PASS	.						76	67	70					2																	28772953		2203	4300	6503	SO:0001630	splice_region_variant	151056	exon16			TTGAGGTAAGGAA		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1083+2T>G	2.37:g.28772953T>G		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	87	26	0.298851	NM_153021	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822878	0.32237	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000404858;ENST00000436544;ENST00000329020	.	.	.	4.97	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8203	0.23852	0.0:0.1043:0.0:0.8957	.	.	.	.	.	-1	.	.	.	+	.	.	PLB1	28626457	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	2.145000	0.42207	1.997000	0.58415	0.459000	0.35465	.	.	.	none		0.448	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Intron	G	28772953	T	G	28772953	5	3	38	1	0	0	0	0	0	0	1	0	12024	1652	57	5	1180	5	PLB1	2	28772953	Splice_Site	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10		28772953	214426420	15	23789										
ALMS1	7840	hgsc.bcm.edu	37	chr2	73646370	73646370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtgacagacttcccctctctGgaggagggcatattgacgca	12	11	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:73646370G>A	ENST00000264448.6	+	3	681	c.570G>A	c.(568-570)ctG>ctA	p.L190L	ALMS1_ENST00000409009.1_Silent_p.L148L|ALMS1_ENST00000377715.1_Silent_p.L190L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	190					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCCCTCTCTGGAGGAGGGCA	0.433																																					p.L190L		Atlas-SNP	.											.	ALMS1	384	.	0			c.G570A						PASS	.						131	124	126					2																	73646370		1849	4096	5945	SO:0001819	synonymous_variant	7840	exon3			CTCTCTGGAGGAG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.570G>A	2.37:g.73646370G>A		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	92	28	0.304348	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			.	.	none		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73646370	G	A	73646370	2	1	38	1	0	0	0	0	0	0	0	1	535	1335	47	2		2	ALMS1	2	73646370	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	44873417	73646370	169553003	16	23790										
REEP1	65055	hgsc.bcm.edu	37	chr2	86459825	86459825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgctggcccgcccagaccccGgtggtggggggcccgaggga	19	15	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:86459825G>A	ENST00000165698.5	-	6	661	c.518C>T	c.(517-519)cCg>cTg	p.P173L	REEP1_ENST00000541910.1_Missense_Mutation_p.R95W|REEP1_ENST00000535845.1_Missense_Mutation_p.P146L|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000540790.1_Missense_Mutation_p.P152L|REEP1_ENST00000538924.1_Missense_Mutation_p.P180L	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	173	Poly-Pro.				cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCCAGACCCCGGTGGTGGGGG	0.647																																					p.P180L		Atlas-SNP	.											.	REEP1	22	.	0			c.C539T						PASS	.						34	33	33					2																	86459825		2203	4300	6503	SO:0001583	missense	65055	exon6			GACCCCGGTGGTG	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.518C>T	2.37:g.86459825G>A	ENSP00000165698:p.Pro173Leu	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	33	9	0.272727	NM_001164730	B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.729874|2.729874	0.48833|0.48833	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231|ENST00000541910;ENST00000437769	D;D;D;D;D|D;D	0.88354|0.95001	-2.35;-2.37;-1.53;-1.53;-2.32|-3.58;-3.52	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.302480|.	0.28760|.	N|.	0.014224|.	D|D	0.90356|0.90356	0.6982|0.6982	N|N	0.22421|0.22421	0.69|0.69	0.21290|0.21290	N|N	0.999732|0.999732	B;B;B|D	0.20887|0.56968	0.012;0.049;0.012|0.978	B;B;B|B	0.19148|0.43623	0.003;0.024;0.003|0.425	D|D	0.83759|0.83759	0.0213|0.0213	10|9	0.17369|0.62326	T|D	0.5|0.03	.|.	13.2924|13.2924	0.60278|0.60278	0.0:0.0:0.8413:0.1587|0.0:0.0:0.8413:0.1587	.|.	146;152;173|95	B7Z5R9;F5H7Z9;Q9H902|B7Z4D7	.;.;REEP1_HUMAN|.	L|W	173;180;146;152;180|95	ENSP00000165698:P173L;ENSP00000438346:P180L;ENSP00000437567:P146L;ENSP00000443831:P152L;ENSP00000392197:P180L|ENSP00000442681:R95W;ENSP00000401140:R95W	ENSP00000165698:P173L|ENSP00000401140:R95W	P|R	-|-	2|1	0|2	REEP1|REEP1	86313336|86313336	0.994000|0.994000	0.37717|0.37717	0.134000|0.134000	0.22075|0.22075	0.187000|0.187000	0.23431|0.23431	5.056000|5.056000	0.64287|0.64287	1.430000|1.430000	0.47334|0.47334	0.655000|0.655000	0.94253|0.94253	CCG|CGG	.	.	none		0.647	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		A	86459825	G	A	86459825	3	1	38	1	0	0	0	0	1	0	0	0	13204	1116	39	1	156	1	REEP1	2	86459825	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	12813455	86459825	156739548	17	23791										
GLI2	2736	hgsc.bcm.edu	37	chr2	121708912	121708912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cctggggagtcccccttcaaCgccccccacccgtacgtgaa	9	19	1	1	rs140711756		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:121708912C>T	ENST00000452319.1	+	4	408	c.348C>T	c.(346-348)aaC>aaT	p.N116N	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.N116N					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCCCTTCAACGCCCCCCACC	0.667																																					p.N116N		Atlas-SNP	.											GLI2,NS,adenocarcinoma,0,1	GLI2	187	1	0			c.C348T						PASS	.	C		6,4400	12.9+/-30.5	0,6,2197	61	66	64		348	-5	0.2	2	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	GLI2	NM_005270.4		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		116/1587	121708912	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2736	exon3			CTTCAACGCCCCC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.348C>T	2.37:g.121708912C>T		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	111	21	0.189189	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																			C|1.000;T|0.000	0.000	weak		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121708912	C	T	121708912	2	4	38	1	0	0	0	0	0	0	0	1	6438	535	19	1		1	GLI2	2	121708912	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	35249087	121708912	121490461	18	23792										
CNTNAP5	129684	hgsc.bcm.edu	37	chr2	125627339	125627339	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcaccttgggcaaagtcacaGgtatgttgttctagttcata	9	8	4	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:125627339G>T	ENST00000431078.1	+	21	3797	c.3433G>T	c.(3433-3435)Gag>Tag	p.E1145*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1145	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAAAGTCACAGGTATGTTGTT	0.403																																					p.E1145X		Atlas-SNP	.											.	CNTNAP5	405	.	0			c.G3433T						PASS	.						72	69	70					2																	125627339		1870	4105	5975	SO:0001630	splice_region_variant	129684	exon21			GTCACAGGTATGT	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3433+1G>T	2.37:g.125627339G>T		Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	150	15	0.1	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	45	11.607466	0.99582	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.57	5.57	0.84162	.	0.270733	0.25535	N	0.030011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	15.1209	0.72441	0.0:0.0:1.0:0.0	.	.	.	.	X	1145	.	ENSP00000399013:E1145X	E	+	1	0	CNTNAP5	125343809	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.395000	0.66291	2.610000	0.88304	0.558000	0.71614	GAG	.	.	none		0.403	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Nonsense_Mutation	T	125627339	G	T	125627339	5	4	38	1	0	0	0	0	0	0	1	0	3650	1014	35	4	3515	4	CNTNAP5	2	125627339	Splice_Site	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3918427	125627339	117572034	19	23793										
POTEF	728378	hgsc.bcm.edu	37	chr2	130872871	130872871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agttttactacttctgaattCccattggcagaggccagatg	9	9	1	3	rs199770435		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000361163.4_Silent_p.G184G|POTEF_ENST00000357462.5_Silent_p.G184G|POTEF_ENST00000360967.5_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTGAATTCCCATTGGCAG	0.423																																					p.G184G		Atlas-SNP	.											POTEF,NS,carcinoma,0,5	POTEF	140	5	2	Substitution - coding silent(2)	prostate(2)	c.G552A						scavenged	.						45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378	exon4			TGAATTCCCATTG	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.552G>A	2.37:g.130872871C>T		Somatic	712	16	0.0224719		WXS	Illumina HiSeq	Phase_I	597	14	0.0234506	NM_001099771	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																			C|0.998;T|0.002	0.002	weak		0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	38	1	0	0	0	0	0	0	0	1	12265	842	30	2		2	POTEF	2	130872871	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	5245532	130872871	112326502	20	23794										
NEB	4703	hgsc.bcm.edu	37	chr2	152420390	152420390	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aacaatgggaatgtagcgctCatccagggtgtagccatagg	13	8	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:152420390C>T	ENST00000172853.10	-	90	13570	c.13423G>A	c.(13423-13425)Gag>Aag	p.E4475K	NEB_ENST00000603639.1_Missense_Mutation_p.E6176K|NEB_ENST00000397345.3_Missense_Mutation_p.E6176K|NEB_ENST00000409198.1_Missense_Mutation_p.E4475K|NEB_ENST00000604864.1_Missense_Mutation_p.E6176K|NEB_ENST00000427231.2_Missense_Mutation_p.E6176K			P20929	NEBU_HUMAN	nebulin	4475					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTAGCGCTCATCCAGGGTG	0.463																																					p.E6176K		Atlas-SNP	.											.	NEB	1697	.	0			c.G18526A						PASS	.						71	71	71					2																	152420390		1965	4171	6136	SO:0001583	missense	4703	exon118			AGCGCTCATCCAG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13423G>A	2.37:g.152420390C>T	ENSP00000172853:p.Glu4475Lys	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	129	23	0.178295	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	16.23	3.064033	0.55432	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06528	3.4;3.39;3.39;3.29;3.4	5.67	5.67	0.87782	.	0.178823	0.50627	D	0.000102	T	0.06508	0.0167	N	0.25647	0.755	0.80722	D	1	B;P	0.37573	0.043;0.6	B;B	0.42625	0.179;0.393	T	0.29610	-1.0006	10	0.06625	T	0.88	.	14.9243	0.70866	0.0:0.7397:0.2603:0.0	.	4475;906	P20929;Q14215	NEBU_HUMAN;.	K	4475;6176;6176;524;906;4475	ENSP00000386259:E4475K;ENSP00000380505:E6176K;ENSP00000416578:E6176K;ENSP00000410961:E906K;ENSP00000172853:E4475K	ENSP00000172853:E4475K	E	-	1	0	NEB	152128636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.020000	0.49643	2.834000	0.97654	0.650000	0.86243	GAG	.	.	none		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152420390	C	T	152420390	3	4	38	1	0	0	0	0	1	0	0	0	10302	835	29	2	7420	2	NEB	2	152420390	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	21547519	152420390	90778983	21	23795										
RAPGEF4	11069	hgsc.bcm.edu	37	chr2	173882186	173882186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttgcaacagttcaatacgggCgatgagagagcccagaagcg	13	9	1	3	rs549829112		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:173882186C>T	ENST00000397081.3	+	21	2105	c.1962C>T	c.(1960-1962)ggC>ggT	p.G654G	RAPGEF4_ENST00000397087.3_Silent_p.G510G|RAPGEF4_ENST00000540783.1_Silent_p.G501G|RAPGEF4_ENST00000264111.6_Silent_p.G653G|RAPGEF4_ENST00000409036.1_Silent_p.G654G|RAPGEF4_ENST00000538974.1_Silent_p.G483G|RAPGEF4_ENST00000535187.1_Silent_p.G434G|RAPGEF4_ENST00000539331.1_Silent_p.G501G	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	654					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G654G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAATACGGGCGATGAGAGAG	0.468													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17335	0.0		0.0	False		,,,				2504	0.0				p.G654G		Atlas-SNP	.											RAPGEF4,NS,carcinoma,0,2	RAPGEF4	103	2	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962T						PASS	.						72	70	71					2																	173882186		1905	4124	6029	SO:0001819	synonymous_variant	11069	exon21			TACGGGCGATGAG	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1962C>T	2.37:g.173882186C>T		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	50	10	0.2	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																			.	.	none		0.468	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		T	173882186	C	T	173882186	2	4	38	1	0	0	0	0	0	0	0	1	13046	755	27	1		1	RAPGEF4	2	173882186	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	21461796	173882186	69317187	22	23796										
NMUR1	10316	hgsc.bcm.edu	37	chr2	232393132	232393132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acgtgcagctgccggatgccGtgcaggctggtgttgggcag	18	10	0	0	rs370312738		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:232393132G>A	ENST00000305141.4	-	2	733	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	200					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCCGGATGCCGTGCAGGCTGG	0.672																																					p.H200H		Atlas-SNP	.											.	NMUR1	46	.	0			c.C600T						PASS	.	G		0,4404		0,0,2202	30	29	29		600	-2.6	0.8	2		29	1,8595		0,1,4297	no	coding-synonymous	NMUR1	NM_006056.4		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		200/427	232393132	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	10316	exon2			GATGCCGTGCAGG	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.600C>T	2.37:g.232393132G>A		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_006056	O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	CCDS2486.1																																																																																			.	.	weak		0.672	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		A	232393132	G	A	232393132	2	1	38	1	0	0	0	0	0	0	0	1	10506	1136	40	1		1	NMUR1	2	232393132	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	58510946	232393132	10806241	23	23797										
ECEL1	9427	hgsc.bcm.edu	37	chr2	233348784	233348784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccatgccaaagtggcgattgGcctggcccaagcagacccgg	13	14	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:233348784G>T	ENST00000304546.1	-	7	1544	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	ECEL1_ENST00000409941.1_Missense_Mutation_p.A445D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	445					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGGCGATTGGCCTGGCCCAA	0.622																																					p.A445D		Atlas-SNP	.											ECEL1,right_upper_lobe,carcinoma,-1,2	ECEL1	73	2	0			c.C1334A						scavenged	.						76	80	79					2																	233348784		2203	4300	6503	SO:0001583	missense	9427	exon7			CGATTGGCCTGGC	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1334C>A	2.37:g.233348784G>T	ENSP00000302051:p.Ala445Asp	Somatic	193	17	0.0880829		WXS	Illumina HiSeq	Phase_I	152	19	0.125	NM_004826	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771640	0.90108	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74526	-0.85;-0.85	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061073	0.64402	D	0.000002	D	0.83115	0.5184	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.63283	0.571;0.913	D	0.84714	0.0736	10	0.87932	D	0	-0.9223	19.0163	0.92896	0.0:0.0:1.0:0.0	.	445;445	O95672-2;O95672	.;ECEL1_HUMAN	D	445	ENSP00000302051:A445D;ENSP00000386333:A445D	ENSP00000302051:A445D	A	-	2	0	ECEL1	233057028	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.005000	0.88553	2.503000	0.84419	0.557000	0.71058	GCC	.	.	none		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		T	233348784	G	T	233348784	3	4	38	1	0	0	0	0	1	0	0	0	4891	1203	42	4	1041	4	ECEL1	2	233348784	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	955652	233348784	9850589	24	23798										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagagcacagacctgcaaagCgttgatgagctgccggtctt	12	11	1	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557																																					p.A2554T		Atlas-SNP	.											COL6A3,NS,carcinoma,0,1	COL6A3	608	1	0			c.G7660A						PASS	.						151	155	154					2																	238253001		2203	4300	6503	SO:0001583	missense	1293	exon36			GCAAAGCGTTGAT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7660G>A	2.37:g.238253001C>T	ENSP00000295550:p.Ala2554Thr	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	47	7	0.148936	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881687	0.51908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.90335	0.6976	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.88468	0.3060	10	0.30854	T	0.27	.	18.8647	0.92287	0.0:1.0:0.0:0.0	.	1947;1947;2348;2554	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	2554;2353;2348;1947;2348;2354	ENSP00000295550:A2554T;ENSP00000315609:A2353T;ENSP00000315873:A2348T;ENSP00000418285:A1947T;ENSP00000386844:A2348T;ENSP00000295546:A2354T	ENSP00000295550:A2554T	A	-	1	0	COL6A3	237917740	1.000000	0.71417	0.210000	0.23637	0.878000	0.50629	7.308000	0.78929	2.507000	0.84556	0.655000	0.94253	GCT	.	.	none		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238253001	C	T	238253001	3	4	38	1	0	0	0	0	1	0	0	0	3701	768	27	1	1909	1	COL6A3	2	238253001	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	4904217	238253001	4946372	25	23799										
PER2	8864	hgsc.bcm.edu	37	chr2	239162025	239162025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctggaggtccacgggcacaGcaggcactgtgaagctggcg	17	11	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr2:239162025G>A	ENST00000254657.3	-	19	2918	c.2639C>T	c.(2638-2640)gCt>gTt	p.A880V	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	880	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CACGGGCACAGCAGGCACTGT	0.637																																					p.A880V		Atlas-SNP	.											.	PER2	85	.	0			c.C2639T						PASS	.						30	31	31					2																	239162025		2203	4299	6502	SO:0001583	missense	8864	exon19			GGCACAGCAGGCA	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2639C>T	2.37:g.239162025G>A	ENSP00000254657:p.Ala880Val	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	53	22	0.415094	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	1.276	-0.611740	0.03690	.	.	ENSG00000132326	ENST00000254657	T	0.11169	2.8	2.97	0.428	0.16499	.	1.738710	0.03244	N	0.180882	T	0.04952	0.0133	N	0.03115	-0.41	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.35624	-0.9781	10	0.15952	T	0.53	.	6.0569	0.19816	0.397:0.0:0.603:0.0	.	880;880	B4DH14;O15055	.;PER2_HUMAN	V	880	ENSP00000254657:A880V	ENSP00000254657:A880V	A	-	2	0	PER2	238826764	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.969000	0.29370	0.299000	0.22661	0.561000	0.74099	GCT	.	.	none		0.637	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239162025	G	A	239162025	3	1	38	1	0	0	0	0	1	0	0	0	11730	971	34	2	1148	2	PER2	2	239162025	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	909024	239162025	4037348	26	23800										
MYD88	4615	hgsc.bcm.edu	37	chr3	38182641	38182641	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aggtgcccatcagaagcgacTgatccccatcaagtacaagg	10	12	2	2	rs387907272		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:38182641T>C	ENST00000495303.1	+	3	483	c.478T>C	c.(478-480)Tga>Cga	p.*160R	MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.L220P|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.L265P(188)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAAGCGACTGATCCCCATC	0.552			Mis		ABC-DLBCL								T|||	1	0.000199681	0.0	0.0	5008	,	,		22034	0.0		0.001	False		,,,				2504	0.0				p.X205R		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	MYD88,NS,lymphoid_neoplasm,0,828	MYD88	900	828	188	Substitution - Missense(188)	haematopoietic_and_lymphoid_tissue(188)	c.T613C						PASS	.						148	119	129					3																	38182641		2203	4300	6503	SO:0001578	stop_lost	4615	exon4			AGCGACTGATCCC	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.478T>C	3.37:g.38182641T>C	ENSP00000417848:p.*160Argext*8	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	80	30	0.375	NM_001172569	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.710754|3.710754	0.68730|0.68730	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.15487|.	2.42;2.42;2.42;2.42|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71676|.	0.3368|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.70626|.	-0.4820|.	9|.	0.87932|.	D|.	0|.	-17.9268|-17.9268	15.535|15.535	0.75996|0.75996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207;252;241|.	Q99836-2;Q99836;B4E3D6|.	.;MYD88_HUMAN;.|.	P|R	273;265;220;272;241|160;205	ENSP00000401399:L273P;ENSP00000379625:L265P;ENSP00000389979:L220P;ENSP00000391753:L272P|.	ENSP00000379625:L265P|.	L|X	+|+	2|1	0|0	MYD88|MYD88	38157645|38157645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.639000|7.639000	0.83342|0.83342	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CTG|TGA	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		C	38182641	T	C	38182641	4	2	38	1	0	0	0	0	0	0	0	0	10023	1593	55	3	836	3	MYD88	3	38182641	Nonstop_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10		38182641	159839789	27	23801										
ITIH1	3697	hgsc.bcm.edu	37	chr3	52817273	52817273	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctccggggaattgagatcttGaaccaagttcaggaaagcct	11	9	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:52817273G>T	ENST00000273283.2	+	10	1167	c.1143G>T	c.(1141-1143)ttG>ttT	p.L381F	ITIH1_ENST00000540715.1_Missense_Mutation_p.L239F|ITIH1_ENST00000542827.1_Missense_Mutation_p.L381F|ITIH1_ENST00000537050.1_Missense_Mutation_p.L93F	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	381	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)		TTGAGATCTTGAACCAAGTTC	0.517																																					p.L381F		Atlas-SNP	.											.	ITIH1	108	.	0			c.G1143T						PASS	.						95	81	86					3																	52817273		2203	4300	6503	SO:0001583	missense	3697	exon10			GATCTTGAACCAA		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.1143G>T	3.37:g.52817273G>T	ENSP00000273283:p.Leu381Phe	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	113	50	0.442478	NM_002215	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003520	0.74932	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.8	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.63169	1.94	0.40406	D	0.979707	D	0.89917	1.0	D	0.87578	0.998	D	0.91687	0.5363	10	0.87932	D	0	-18.3723	9.4229	0.38561	0.0769:0.1441:0.779:0.0	.	381	P19827	ITIH1_HUMAN	F	381;381;239;93	ENSP00000442584:L381F;ENSP00000273283:L381F;ENSP00000443973:L239F;ENSP00000443847:L93F	ENSP00000273283:L381F	L	+	3	2	ITIH1	52792313	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.777000	0.55364	1.456000	0.47831	0.650000	0.86243	TTG	.	.	none		0.517	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52817273	G	T	52817273	3	4	38	1	0	0	0	0	1	0	0	0	7903	1281	45	4	1181	4	ITIH1	3	52817273	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	14634632	52817273	145205157	28	23802										
ROBO2	6092	hgsc.bcm.edu	37	chr3	77693936	77693936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aggaacagcttcttctaaggGatccactggacctaggaaaa	10	9	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:77693936G>T	ENST00000461745.1	+	25	4916	c.4016G>T	c.(4015-4017)gGa>gTa	p.G1339V	ROBO2_ENST00000487694.3_Missense_Mutation_p.G1355V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1400V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1339					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTTCTAAGGGATCCACTGGA	0.517																																					p.G1339V		Atlas-SNP	.											ROBO2_ENST00000487694,colon,carcinoma,-1,3	ROBO2	527	3	0			c.G4016T						scavenged	.						85	87	87					3																	77693936		2017	4172	6189	SO:0001583	missense	6092	exon25			CTAAGGGATCCAC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4016G>T	3.37:g.77693936G>T	ENSP00000417164:p.Gly1339Val	Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	58	23	0.396552	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382918	0.61845	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.70516	-0.27;-0.23;-0.49	5.85	5.85	0.93711	.	0.000000	0.45126	D	0.000396	T	0.71962	0.3402	L	0.49778	1.585	0.34784	D	0.735015	P;P;P	0.41131	0.622;0.739;0.622	B;P;B	0.46917	0.33;0.531;0.33	T	0.79822	-0.1641	9	0.66056	D	0.02	.	13.3754	0.60736	0.0716:0.0:0.9284:0.0	.	1355;1400;1339	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	1355;1355;1339;1400	ENSP00000417335:G1355V;ENSP00000417164:G1339V;ENSP00000327536:G1400V	ENSP00000327536:G1400V	G	+	2	0	ROBO2	77776626	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	7.394000	0.79862	2.775000	0.95449	0.655000	0.94253	GGA	.	.	none		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77693936	G	T	77693936	3	4	38	1	0	0	0	0	1	0	0	0	13514	1174	41	4	4116	4	ROBO2	3	77693936	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	24876663	77693936	120328494	29	23803										
H1FOO	132243	hgsc.bcm.edu	37	chr3	129266464	129266464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgctggccactggcatgcgcCgtggcctcctcgccaggccc	13	19	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:129266464C>T	ENST00000324382.2	+	2	324	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	H1FOO_ENST00000503977.1_5'Flank	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	107	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						TGGCATGCGCCGTGGCCTCCT	0.622																																					p.R107C		Atlas-SNP	.											.	H1FOO	20	.	0			c.C319T						PASS	.						12	8	9					3																	129266464		1984	3937	5921	SO:0001583	missense	132243	exon2			ATGCGCCGTGGCC	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"Histones / Replication-independent"	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.319C>T	3.37:g.129266464C>T	ENSP00000319799:p.Arg107Cys	Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	24	0.510638	NM_153833	Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569113	0.28003	.	.	ENSG00000178804	ENST00000324382	T	0.22743	1.94	5.56	3.63	0.41609	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.569731	0.17640	N	0.167052	T	0.25382	0.0617	M	0.64404	1.975	0.09310	N	1	P	0.52061	0.95	P	0.47206	0.541	T	0.16482	-1.0401	10	0.87932	D	0	-3.2272	5.9767	0.19385	0.2261:0.5766:0.1234:0.074	.	107	Q8IZA3	H1FOO_HUMAN	C	107	ENSP00000319799:R107C	ENSP00000319799:R107C	R	+	1	0	H1FOO	130749154	0.000000	0.05858	0.015000	0.15790	0.063000	0.16089	0.176000	0.16782	1.323000	0.45263	0.655000	0.94253	CGT	.	.	none		0.622	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		T	129266464	C	T	129266464	3	4	38	1	0	0	0	0	1	0	0	0	6922	652	23	1	325	1	H1FOO	3	129266464	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	51572528	129266464	68755966	30	23804										
XRN1	54464	hgsc.bcm.edu	37	chr3	142123761	142123761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aacattaccttgtacaacatCgttctatggcagggaacttt	7	9	1	0	rs150688965		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:142123761C>T	ENST00000264951.4	-	16	1988	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	RNU6-1294P_ENST00000515995.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.R624Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	624					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGTACAACATCGTTCTATGGC	0.418																																					p.R624Q		Atlas-SNP	.											.	XRN1	138	.	0			c.G1871A						PASS	.	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	98	85	89		1871,1871	3.4	0.8	3	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	XRN1	NM_001042604.1,NM_019001.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	624/1694,624/1707	142123761	2,13004	2203	4300	6503	SO:0001583	missense	54464	exon16			CAACATCGTTCTA	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1871G>A	3.37:g.142123761C>T	ENSP00000264951:p.Arg624Gln	Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	157	32	0.203822	NM_001042604	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538979	0.45176	4.54E-4	0.0	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.22945	1.93;1.93	5.53	3.41	0.39046	.	0.475762	0.20827	N	0.084957	T	0.19248	0.0462	L	0.39397	1.21	0.19945	N	0.999948	B;B;B	0.21905	0.021;0.062;0.037	B;B;B	0.19946	0.002;0.027;0.012	T	0.18587	-1.0332	10	0.13470	T	0.59	-1.414	11.6559	0.51318	0.0:0.7832:0.0:0.2168	.	485;624;624	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	Q	624	ENSP00000264951:R624Q;ENSP00000376707:R624Q	ENSP00000264951:R624Q	R	-	2	0	XRN1	143606451	0.041000	0.20044	0.845000	0.33349	0.932000	0.56968	0.215000	0.17562	1.332000	0.45431	0.650000	0.86243	CGA	C|1.000;T|0.000	0.000	weak		0.418	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142123761	C	T	142123761	3	4	38	1	0	0	0	0	1	0	0	0	17456	884	31	1	3357	1	XRN1	3	142123761	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	12857297	142123761	55898669	31	23805										
P2RY1	5028	hgsc.bcm.edu	37	chr3	152553954	152553954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgccatgtgtaaactgcagaGgttcatctttcatgtgaacc	9	9	3	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:152553954G>A	ENST00000305097.3	+	1	1219	c.383G>A	c.(382-384)aGg>aAg	p.R128K		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	128					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517																																					p.R128K		Atlas-SNP	.											.	P2RY1	49	.	0			c.G383A						PASS	.						80	78	78					3																	152553954		2203	4300	6503	SO:0001583	missense	5028	exon1			TGCAGAGGTTCAT	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.383G>A	3.37:g.152553954G>A	ENSP00000304767:p.Arg128Lys	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	83	37	0.445783	NM_002563		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443803	0.96187	.	.	ENSG00000169860	ENST00000305097	T	0.37058	1.22	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.78801	2.425	0.58432	D	0.999999	D	0.63046	0.992	D	0.77004	0.989	T	0.55036	-0.8203	10	0.21014	T	0.42	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	128	P47900	P2RY1_HUMAN	K	128	ENSP00000304767:R128K	ENSP00000304767:R128K	R	+	2	0	P2RY1	154036644	1.000000	0.71417	0.878000	0.34440	0.992000	0.81027	7.731000	0.84895	2.706000	0.92434	0.655000	0.94253	AGG	.	.	none		0.517	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		A	152553954	G	A	152553954	3	1	38	1	0	0	0	0	1	0	0	0	11346	1000	35	2	385	2	P2RY1	3	152553954	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	10430193	152553954	45468476	32	23806										
GPR149	344758	hgsc.bcm.edu	37	chr3	154147154	154147154	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaaacatgaagatggtcaccGacaggacgctcatgagatca	10	9	3	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:154147154G>T	ENST00000389740.2	-	1	350	c.251C>A	c.(250-252)tCg>tAg	p.S84*		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	84					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATGGTCACCGACAGGACGCT	0.478																																					p.S84X		Atlas-SNP	.											GPR149,caecum,carcinoma,0,4	GPR149	134	4	0			c.C251A						scavenged	.						94	98	97					3																	154147154		2055	4210	6265	SO:0001587	stop_gained	344758	exon1			GTCACCGACAGGA	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.251C>A	3.37:g.154147154G>T	ENSP00000374390:p.Ser84*	Somatic	306	1	0.00326797		WXS	Illumina HiSeq	Phase_I	386	5	0.0129534	NM_001038705		Nonsense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	39	7.689902	0.98434	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.91	5.91	0.95273	.	0.183813	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.7955	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000374390:S84X	S	-	2	0	GPR149	155629848	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.032000	0.93736	2.793000	0.96121	0.655000	0.94253	TCG	.	.	none		0.478	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154147154	G	T	154147154	4	4	38	1	0	0	0	0	0	1	0	0	6654	1059	37	4	1960	4	GPR149	3	154147154	Nonsense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1593200	154147154	43875276	33	23807										
TBL1XR1	79718	hgsc.bcm.edu	37	chr3	176750838	176750838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caggactgaaagctacactgTacacaggctcttggtgtttt	10	9	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr3:176750838T>C	ENST00000430069.1	-	14	1596	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Y446C			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	446					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGCTACACTGTACACAGGCTC	0.423																																					p.Y446C		Atlas-SNP	.											.	TBL1XR1	87	.	0			c.A1337G						PASS	.						119	117	118					3																	176750838		1942	4178	6120	SO:0001583	missense	79718	exon14			ACACTGTACACAG	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1337A>G	3.37:g.176750838T>C	ENSP00000405574:p.Tyr446Cys	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	316	124	0.392405	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339487	0.81911	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.60299	0.2;0.2	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.202715	0.44483	D	0.000449	T	0.72550	0.3474	M	0.71581	2.175	0.80722	D	1	P	0.50943	0.94	P	0.61070	0.883	T	0.75439	-0.3317	10	0.62326	D	0.03	-3.9263	14.8126	0.70006	0.0:0.0:0.0:1.0	.	446	Q9BZK7	TBL1R_HUMAN	C	446;446;308	ENSP00000405574:Y446C;ENSP00000413251:Y446C	ENSP00000405574:Y446C	Y	-	2	0	TBL1XR1	178233532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.098000	0.63641	0.533000	0.62120	TAC	.	.	none		0.423	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		C	176750838	T	C	176750838	3	2	38	1	0	0	0	0	1	0	0	0	15637	1638	57	2	219	2	TBL1XR1	3	176750838	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	22603684	176750838	21271592	34	23808										
ZBTB49	166793	hgsc.bcm.edu	37	chr4	4322555	4322555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aggagctcagccaagccatcGagacctccgacctcgagaaa	10	14	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:4322555G>A	ENST00000337872.4	+	8	1931	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E87K|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E482K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCAAGCCATCGAGACCTCCGA	0.577																																					p.E604K		Atlas-SNP	.											.	ZBTB49	63	.	0			c.G1810A						PASS	.						59	54	56					4																	4322555		2203	4300	6503	SO:0001583	missense	166793	exon8			GCCATCGAGACCT	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1810G>A	4.37:g.4322555G>A	ENSP00000338807:p.Glu604Lys	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	74	14	0.189189	NM_145291	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604935	0.46423	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14516	2.5;2.89;3.13	4.57	2.62	0.31277	.	0.279254	0.25197	N	0.032418	T	0.10809	0.0264	M	0.62723	1.935	0.09310	N	1	P;P	0.49862	0.601;0.929	B;B	0.33392	0.07;0.163	T	0.28839	-1.0031	10	0.21014	T	0.42	.	10.6094	0.45412	0.0:0.1439:0.7069:0.1491	.	482;604	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	K	482;604;87	ENSP00000348091:E482K;ENSP00000338807:E604K;ENSP00000445653:E87K	ENSP00000338807:E604K	E	+	1	0	ZBTB49	4373456	0.202000	0.23423	0.003000	0.11579	0.269000	0.26545	1.500000	0.35682	1.016000	0.39470	0.455000	0.32223	GAG	.	.	none		0.577	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		A	4322555	G	A	4322555	3	1	38	1	0	0	0	0	1	0	0	0	17547	1059	37	1	1836	1	ZBTB49	4	4322555	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		4322555	186831721	35	23809										
SPATA18	132671	hgsc.bcm.edu	37	chr4	52926593	52926593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttgcccttgcagacaaacacGtgtgatcaaaatctaaacca	6	11	2	2	rs141339947	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:52926593G>T	ENST00000295213.4	+	2	470	c.96G>T	c.(94-96)acG>acT	p.T32T	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Silent_p.T32T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	32					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGACAAACACGTGTGATCAAA	0.507																																					p.T32T		Atlas-SNP	.											SPATA18_ENST00000295213,NS,carcinoma,+1,2	SPATA18	222	2	0			c.G96T						scavenged	.						97	88	91					4																	52926593		2203	4300	6503	SO:0001819	synonymous_variant	132671	exon2			AAACACGTGTGAT	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.96G>T	4.37:g.52926593G>T		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	224	3	0.0133929	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																			G|0.999;A|0.001	.	alt		0.507	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		T	52926593	G	T	52926593	2	4	38	1	0	0	0	0	0	0	0	1	15002	1132	40	4		4	SPATA18	4	52926593	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	48604038	52926593	138227683	36	23810										
KDR	3791	hgsc.bcm.edu	37	chr4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggtgatgctgtccaagcgccGtttcagatccacagggattg	13	10	1	2	rs530419081		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:55961059G>A	ENST00000263923.4	-	21	3176	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	961	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R961W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18407	0.0		0.0	False		,,,				2504	0.001				p.R961W		Atlas-SNP	.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	KDR,NS,carcinoma,0,1	KDR	307	1	1	Substitution - Missense(1)	breast(1)	c.C2881T						PASS	.						122	112	115					4																	55961059		2203	4300	6503	SO:0001583	missense	3791	exon21			AGCGCCGTTTCAG	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2881C>T	4.37:g.55961059G>A	ENSP00000263923:p.Arg961Trp	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	105	23	0.219048	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111932	0.77210	.	.	ENSG00000128052	ENST00000263923	T	0.77620	-1.11	5.87	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.331135	0.32258	N	0.006349	T	0.77011	0.4068	L	0.42245	1.32	0.38997	D	0.959262	D	0.76494	0.999	P	0.53185	0.72	T	0.78303	-0.2256	10	0.72032	D	0.01	.	9.5094	0.39067	0.0669:0.0:0.679:0.2541	.	961	P35968	VGFR2_HUMAN	W	961	ENSP00000263923:R961W	ENSP00000263923:R961W	R	-	1	2	KDR	55655816	1.000000	0.71417	0.974000	0.42286	0.668000	0.39293	3.418000	0.52721	0.755000	0.32990	0.655000	0.94253	CGG	.	.	none		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55961059	G	A	55961059	3	1	38	1	0	0	0	0	1	0	0	0	8139	1144	40	1	1229	1	KDR	4	55961059	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3034466	55961059	135193217	37	23811										
GC	2638	hgsc.bcm.edu	37	chr4	72620785	72620785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agtaccttactgaggaatacTtccggaagatgagtccttct	9	9	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:72620785T>G	ENST00000273951.8	-	9	1417	c.1074A>C	c.(1072-1074)gaA>gaC	p.E358D	GC_ENST00000513476.1_Missense_Mutation_p.E358D|GC_ENST00000504199.1_Missense_Mutation_p.E377D|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	358	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TGAGGAATACTTCCGGAAGAT	0.348																																					p.E377D		Atlas-SNP	.											.	GC	132	.	0			c.A1131C						PASS	.						123	115	118					4																	72620785		2203	4300	6503	SO:0001583	missense	2638	exon10			GAATACTTCCGGA	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1074A>C	4.37:g.72620785T>G	ENSP00000273951:p.Glu358Asp	Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	279	93	0.333333	NM_001204307	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	T	9.556	1.117265	0.20795	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.73152	-0.72;-0.72;-0.72	4.81	3.65	0.41850	.	0.246243	0.36066	N	0.002815	T	0.64659	0.2618	L	0.61036	1.89	0.31742	N	0.635658	P;P	0.40476	0.718;0.513	B;B	0.42771	0.255;0.397	T	0.63994	-0.6511	10	0.20519	T	0.43	.	5.9139	0.19043	0.0:0.13:0.0:0.87	.	377;358	D6RAK8;D6RF35	.;.	D	358;377;358	ENSP00000273951:E358D;ENSP00000421725:E377D;ENSP00000426683:E358D	ENSP00000273951:E358D	E	-	3	2	GC	72839649	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	0.421000	0.21280	0.953000	0.37825	0.459000	0.35465	GAA	.	.	none		0.348	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			G	72620785	T	G	72620785	3	3	38	1	0	0	0	0	1	0	0	0	6282	1606	56	5	366	5	GC	4	72620785	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	16659726	72620785	118533491	38	23812										
DSPP	1834	hgsc.bcm.edu	37	chr4	88536448	88536448	+	Silent	SNP	C	C	T													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gacagcagcaacagcagtgaCagcagtgatagcagtgacag					rs111205175		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D878D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																					p.D878D		Atlas-SNP	.											.	DSPP	174	.	0			c.C2634T						PASS	.						70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	240	20	0.0833333	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	38	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88536448	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	15915663	88536448	102617828	39	23813	488	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536451	88536451	+	Silent	SNP	C	C	T													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcagcaacagcagtgacagCagtgatagcagtgacagcaa					rs111205176|rs149201255		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S879S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																					p.S879S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.C2637T						PASS	.						71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834	exon5			TGACAGCAGTGAT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	237	26	0.109705	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	38	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536451	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	3	88536451	102617825	40	23814	488	3								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536460	88536460	+	Silent	SNP	C	C	T													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcagtgacagcagtgatagCagtgacagcaacgaaagcag					rs199691318		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S882S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																					p.S882S		Atlas-SNP	.											.	DSPP	174	.	0			c.C2646T						PASS	.						73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834	exon5			TGATAGCAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	236	27	0.114407	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	38	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536460	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	9	88536460	102617816	41	23815	488	3								
FAT4	79633	hgsc.bcm.edu	37	chr4	126329648	126329648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gatgatgactctggtgtgaaTggagaaattacatatattgt	11	3	1	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:126329648T>A	ENST00000394329.3	+	4	5632	c.5619T>A	c.(5617-5619)aaT>aaA	p.N1873K	FAT4_ENST00000335110.5_Missense_Mutation_p.N171K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1873	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGTGTGAATGGAGAAATTA	0.323																																					p.N1873K		Atlas-SNP	.											.	FAT4	1752	.	0			c.T5619A						PASS	.						114	117	116					4																	126329648		2203	4300	6503	SO:0001583	missense	79633	exon4			TGTGAATGGAGAA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5619T>A	4.37:g.126329648T>A	ENSP00000377862:p.Asn1873Lys	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	118	14	0.118644	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621835	0.66787	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59906	0.23;0.23	5.03	2.62	0.31277	Cadherin (4);Cadherin-like (1);	0.000000	0.36519	U	0.002554	T	0.79828	0.4513	H	0.95187	3.635	0.58432	D	0.999995	D;D	0.76494	0.995;0.999	D;D	0.80764	0.98;0.994	T	0.81389	-0.0955	10	0.72032	D	0.01	.	8.8314	0.35087	0.0:0.1539:0.0:0.8461	.	171;1873	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	K	1873;171	ENSP00000377862:N1873K;ENSP00000335169:N171K	ENSP00000335169:N171K	N	+	3	2	FAT4	126549098	0.989000	0.36119	1.000000	0.80357	0.969000	0.65631	0.128000	0.15810	0.761000	0.33130	0.482000	0.46254	AAT	.	.	none		0.323	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126329648	T	A	126329648	3	1	38	1	0	0	0	0	1	0	0	0	5692	1461	51	5	5633	5	FAT4	4	126329648	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	37793188	126329648	64824628	42	23816										
FAT4	79633	hgsc.bcm.edu	37	chr4	126384754	126384754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttcagtcaattactgtgaatGcaacccctgctttaatggtg	8	9	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:126384754G>A	ENST00000394329.3	+	10	11844	c.11831G>A	c.(11830-11832)tGc>tAc	p.C3944Y	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3944	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTGTGAATGCAACCCCTGC	0.308																																					p.C3944Y		Atlas-SNP	.											.	FAT4	1752	.	0			c.G11831A						PASS	.						142	121	127					4																	126384754		1568	3582	5150	SO:0001583	missense	79633	exon10			GTGAATGCAACCC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11831G>A	4.37:g.126384754G>A	ENSP00000377862:p.Cys3944Tyr	Somatic	243	0	0		WXS	Illumina HiSeq	Phase_I	189	57	0.301587	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933600	0.73442	.	.	ENSG00000196159	ENST00000394329	T	0.74002	-0.8	5.34	5.34	0.76211	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37857	U	0.001912	T	0.71617	0.3361	N	0.04746	-0.17	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.59703	0.862;0.773	T	0.78708	-0.2099	10	0.56958	D	0.05	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	3944;3944	Q6V0I7;Q6V0I7-3	FAT4_HUMAN;.	Y	3944	ENSP00000377862:C3944Y	ENSP00000377862:C3944Y	C	+	2	0	FAT4	126604204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.460000	0.80816	2.489000	0.83994	0.650000	0.86243	TGC	.	.	none		0.308	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126384754	G	A	126384754	3	1	38	1	0	0	0	0	1	0	0	0	5692	1319	46	2	11869	2	FAT4	4	126384754	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	55106	126384754	64769522	43	23817										
FHDC1	85462	hgsc.bcm.edu	37	chr4	153875426	153875426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaaagtgagcattatggatcAgagaccttgcgagaatttct	10	6	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:153875426A>G	ENST00000511601.1	+	4	806	c.618A>G	c.(616-618)tcA>tcG	p.S206S	FHDC1_ENST00000260008.3_Silent_p.S206S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	206	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATTATGGATCAGAGACCTTGC	0.383																																					p.S206S		Atlas-SNP	.											.	FHDC1	102	.	0			c.A618G						PASS	.						113	117	116					4																	153875426		2203	4300	6503	SO:0001819	synonymous_variant	85462	exon3			TGGATCAGAGACC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.618A>G	4.37:g.153875426A>G		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	93	18	0.193548	NM_033393		Silent	SNP	ENST00000511601.1	37	CCDS34081.1																																																																																			.	.	none		0.383	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153875426	A	G	153875426	2	3	38	1	0	0	0	0	0	0	0	1	5876	175	7	3		3	FHDC1	4	153875426	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	27490672	153875426	37278850	44	23818										
IRF2	3660	hgsc.bcm.edu	37	chr4	185309962	185309962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	atccgatgttttcttgatgaCgctggcccgggtctcccggt	12	12	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:185309962C>T	ENST00000393593.3	-	9	1207	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	334					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTCTTGATGACGCTGGCCCGG	0.572																																					p.V334I		Atlas-SNP	.											IRF2,caecum,carcinoma,0,1	IRF2	53	1	0			c.G1000A						PASS	.						65	76	72					4																	185309962		2203	4300	6503	SO:0001583	missense	3660	exon9			TGATGACGCTGGC		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.1000G>A	4.37:g.185309962C>T	ENSP00000377218:p.Val334Ile	Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	70	19	0.271429	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664083	0.88251	.	.	ENSG00000168310	ENST00000393593	D	0.98822	-5.16	5.08	5.08	0.68730	.	0.615176	0.15998	N	0.234496	D	0.98937	0.9639	L	0.61218	1.895	0.54753	D	0.999988	D	0.89917	1.0	D	0.79108	0.992	D	0.99911	1.1201	10	0.87932	D	0	-14.8728	18.6427	0.91400	0.0:1.0:0.0:0.0	.	334	P14316	IRF2_HUMAN	I	334	ENSP00000377218:V334I	ENSP00000377218:V334I	V	-	1	0	IRF2	185546956	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	5.799000	0.69101	2.646000	0.89796	0.561000	0.74099	GTC	.	.	none		0.572	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			T	185309962	C	T	185309962	3	4	38	1	0	0	0	0	1	0	0	0	7828	536	19	1	53	1	IRF2	4	185309962	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	31434536	185309962	5844314	45	23819										
FAT1	2195	hgsc.bcm.edu	37	chr4	187530476	187530476	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cggcatcatcggccataaccTagaacacaccacactcctgt	6	16	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:187530476T>C	ENST00000441802.2	-	16	10278		c.e16-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCCATAACCTAGAACACACC	0.433										HNSCC(5;0.00058)																											.	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.10069-2A>G						PASS	.						92	85	87					4																	187530476		1938	4155	6093	SO:0001630	splice_region_variant	2195	exon17			ATAACCTAGAACA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10069-2A>G	4.37:g.187530476T>C		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	106	37	0.349057	NM_005245		Splice_Site	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008466	0.35415	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187767470	1.000000	0.71417	0.998000	0.56505	0.160000	0.22226	7.977000	0.88081	2.030000	0.59900	0.533000	0.62120	.	.	.	none		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	C	187530476	T	C	187530476	5	2	38	1	0	0	0	0	0	0	1	0	5689	1536	53	3	3747	3	FAT1	4	187530476	Splice_Site	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	2220514	187530476	3623800	46	23820										
FAT1	2195	hgsc.bcm.edu	37	chr4	187539926	187539926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctttagcagcactggacccgAtattcacttcgtatttggtt	8	10	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr4:187539926A>T	ENST00000441802.2	-	10	8023	c.7814T>A	c.(7813-7815)aTc>aAc	p.I2605N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2605	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGGACCCGATATTCACTTC	0.468										HNSCC(5;0.00058)																											p.I2605N	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.T7814A						PASS	.						56	55	56					4																	187539926		1986	4156	6142	SO:0001583	missense	2195	exon10			GACCCGATATTCA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7814T>A	4.37:g.187539926A>T	ENSP00000406229:p.Ile2605Asn	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	101	26	0.257426	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420334	0.42918	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01854	4.6	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.158326	0.56097	D	0.000030	T	0.19327	0.0464	H	0.95539	3.685	0.58432	D	0.999999	D	0.64830	0.994	D	0.66716	0.946	T	0.09465	-1.0673	10	0.87932	D	0	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	2605	Q14517	FAT1_HUMAN	N	2605;2607	ENSP00000406229:I2605N	ENSP00000260147:I2607N	I	-	2	0	FAT1	187776920	1.000000	0.71417	0.445000	0.26908	0.015000	0.08874	9.139000	0.94554	2.263000	0.75096	0.533000	0.62120	ATC	.	.	none		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187539926	A	T	187539926	3	4	38	1	0	0	0	0	1	0	0	0	5689	333	12	5	6024	5	FAT1	4	187539926	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	9450	187539926	3614350	47	23821										
MTRR	4552	hgsc.bcm.edu	37	chr5	7875473	7875473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tttctatgacactggacatgCagatgactgtgtagggtaag	12	6	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:7875473C>T	ENST00000264668.2	+	4	497	c.467C>T	c.(466-468)gCa>gTa	p.A156V	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.A129V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	156	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.		A -> T (in HMAE). {ECO:0000269|PubMed:10484769}.		cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTGGACATGCAGATGACTGT	0.423																																					p.A156V		Atlas-SNP	.											.	MTRR	74	.	0			c.C467T						PASS	.						138	146	143					5																	7875473		2203	4300	6503	SO:0001583	missense	4552	exon4			GACATGCAGATGA	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.467C>T	5.37:g.7875473C>T	ENSP00000264668:p.Ala156Val	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	105	35	0.333333	NM_024010	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174970	0.94807	.	.	ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550	T;T;T	0.71817	-0.6;-0.6;-0.6	5.37	5.37	0.77165	Flavodoxin/nitric oxide synthase (2);	0.051018	0.85682	N	0.000000	T	0.81987	0.4939	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80872	-0.1188	10	0.45353	T	0.12	-31.5321	19.4731	0.94971	0.0:1.0:0.0:0.0	.	156	Q9UBK8	MTRR_HUMAN	V	156;129;129	ENSP00000264668:A156V;ENSP00000402510:A129V;ENSP00000424599:A129V	ENSP00000264668:A156V	A	+	2	0	MTRR	7928473	1.000000	0.71417	0.592000	0.28758	0.990000	0.78478	6.576000	0.74023	2.659000	0.90383	0.655000	0.94253	GCA	.	.	none		0.423	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			T	7875473	C	T	7875473	3	4	38	1	0	0	0	0	1	0	0	0	9961	710	25	2	481	2	MTRR	5	7875473	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		7875473	173039787	48	23822										
MARCH11	441061	hgsc.bcm.edu	37	chr5	16091041	16091041	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccatacattccatagcagatCtgaaaaaggatgtccttcct	6	11	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:16091041C>T	ENST00000332432.8	-	3	1042	c.843G>A	c.(841-843)caG>caA	p.Q281Q	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	281					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CATAGCAGATCTGAAAAAGGA	0.448																																					p.Q281Q		Atlas-SNP	.											.	MARCH11	50	.	0			c.G843A						PASS	.						99	97	98					5																	16091041		2004	4181	6185	SO:0001819	synonymous_variant	441061	exon3			GCAGATCTGAAAA	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.843G>A	5.37:g.16091041C>T		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	95	10	0.105263	NM_001102562	A7E2S6	Silent	SNP	ENST00000332432.8	37	CCDS47192.1																																																																																			.	.	none		0.448	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		T	16091041	C	T	16091041	2	4	38	1	0	0	0	0	0	0	0	1	9300	912	32	2		2	MARCH11	5	16091041	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	8215568	16091041	164824219	49	23823										
PRDM9	56979	hgsc.bcm.edu	37	chr5	23523413	23523413	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aactcagatcaccaaggggaGaaactgctatgagtatgtgg	12	7	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:23523413G>T	ENST00000296682.3	+	9	1078	c.896G>T	c.(895-897)aGa>aTa	p.R299I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	299	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCAAGGGGAGAAACTGCTAT	0.433										HNSCC(3;0.000094)																											p.R299I		Atlas-SNP	.											.	PRDM9	344	.	0			c.G896T						PASS	.						129	125	126					5																	23523413		2203	4300	6503	SO:0001583	missense	56979	exon9			AGGGGAGAAACTG	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.896G>T	5.37:g.23523413G>T	ENSP00000296682:p.Arg299Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	140	45	0.321429	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	g	15.01	2.707568	0.48412	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.38722	1.12	3.72	2.82	0.32997	SET domain (2);	0.189395	0.26045	N	0.026680	T	0.41558	0.1164	L	0.51853	1.615	0.45227	D	0.998238	D	0.61080	0.989	P	0.50708	0.648	T	0.37820	-0.9689	10	0.72032	D	0.01	-20.6175	6.2592	0.20891	0.1394:0.0:0.8606:0.0	.	299	Q9NQV7	PRDM9_HUMAN	I	299;93	ENSP00000296682:R299I	ENSP00000253473:R93I	R	+	2	0	PRDM9	23559170	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.460000	0.45031	2.009000	0.58944	0.592000	0.82586	AGA	.	.	none		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23523413	G	T	23523413	3	4	38	1	0	0	0	0	1	0	0	0	12463	942	33	4	926	4	PRDM9	5	23523413	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	7432372	23523413	157391847	50	23824										
C7	730	hgsc.bcm.edu	37	chr5	40936442	40936442	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gatttctctggtgttcaggtCagtgcatcagcaaatcattg	10	8	5	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:40936442C>T	ENST00000313164.9	+	5	642	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	95	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GTGTTCAGGTCAGTGCATCAG	0.463																																					p.Q95X		Atlas-SNP	.											.	C7	136	.	0			c.C283T						PASS	.						104	101	102					5																	40936442		1993	4174	6167	SO:0001587	stop_gained	730	exon5			TCAGGTCAGTGCA	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.283C>T	5.37:g.40936442C>T	ENSP00000322061:p.Gln95*	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	124	34	0.274194	NM_000587	Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	37	6.596583	0.97692	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	.	.	.	5.02	5.02	0.67125	.	0.058459	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-15.7368	18.483	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000322061:Q95X	Q	+	1	0	C7	40972199	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.560000	0.67332	2.779000	0.95612	0.491000	0.48974	CAG	.	.	none		0.463	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			T	40936442	C	T	40936442	4	4	38	1	0	0	0	0	0	1	0	0	2375	827	29	2	301	2	C7	5	40936442	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	17413029	40936442	139978818	51	23825										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950750	79950750	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcgcccccagcgcccccagcTcccgccttcccgccccagct	8	26	0	0	rs144629981|rs3045983|rs1047489	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:79950750T>G	ENST00000265081.6	+	1	284	c.204T>G	c.(202-204)gcT>gcG	p.A68A	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	68					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCCCCCAGCTCCCGCCTTCC	0.741								Mismatch excision repair (MMR)																													p.A68A	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.T204G						PASS	.						3	3	3					5																	79950750		1568	3264	4832	SO:0001819	synonymous_variant	4437	exon1			CCCAGCTCCCGCC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.204T>G	5.37:g.79950750T>G		Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	18	15	0.833333	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			.	.	weak		0.741	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79950750	T	G	79950750	2	3	38	1	0	0	0	0	0	0	0	1	9871	1538	54	5		5	MSH3	5	79950750	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	39014308	79950750	100964510	52	23826										
CAST	831	hgsc.bcm.edu	37	chr5	96073629	96073629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aactgaagaagaaaatacaaCgtatactggaccagaagttt	8	6	0	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:96073629C>T	ENST00000341926.3	+	9	689	c.527C>T	c.(526-528)aCg>aTg	p.T176M	CAST_ENST00000511782.1_Missense_Mutation_p.T162M|CAST_ENST00000508830.1_Missense_Mutation_p.T259M|CAST_ENST00000359176.4_Missense_Mutation_p.T240M|CAST_ENST00000509903.1_Missense_Mutation_p.T154M|CAST_ENST00000395813.1_Missense_Mutation_p.T259M|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000511049.1_Missense_Mutation_p.T162M|CAST_ENST00000504465.1_Missense_Mutation_p.T104M|CAST_ENST00000309190.5_Missense_Mutation_p.T154M|CAST_ENST00000510756.1_Missense_Mutation_p.T237M|CAST_ENST00000338252.3_Missense_Mutation_p.T176M|CAST_ENST00000508608.1_Missense_Mutation_p.T222M|CAST_ENST00000325674.7_Missense_Mutation_p.T237M|CAST_ENST00000395812.2_Missense_Mutation_p.T218M			P20810	ICAL_HUMAN	calpastatin	176					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.T154M(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAAATACAACGTATACTGGA	0.373																																					p.T218M		Atlas-SNP	.											CAST,NS,carcinoma,0,2	CAST	58	2	1	Substitution - Missense(1)	endometrium(1)	c.C653T						PASS	.						119	126	123					5																	96073629		2203	4300	6503	SO:0001583	missense	831	exon9			ATACAACGTATAC	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.527C>T	5.37:g.96073629C>T	ENSP00000339914:p.Thr176Met	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	61	17	0.278689	NM_001042440	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.531|9.531	1.110739|1.110739	0.20714|0.20714	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000512620|ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508197	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.17370	.|2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.4|5.4	2.27|2.27	0.28462|0.28462	.|.	.|1.563230	.|0.03377	.|N	.|0.199788	T|T	0.28034|0.28034	0.0691|0.0691	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|D;P;B;D;P;D;D;D;D;D;D;D;D;D	.|0.64830	.|0.988;0.905;0.04;0.994;0.942;0.99;0.988;0.971;0.988;0.989;0.994;0.985;0.98;0.982	.|P;P;B;P;P;P;P;P;P;P;P;P;P;P	.|0.58013	.|0.727;0.607;0.017;0.787;0.714;0.686;0.682;0.714;0.76;0.747;0.831;0.599;0.747;0.686	T|T	0.07233|0.07233	-1.0783|-1.0783	5|10	.|0.46703	.|T	.|0.11	1.6995|1.6995	4.6011|4.6011	0.12354|0.12354	0.1838:0.5991:0.1273:0.0898|0.1838:0.5991:0.1273:0.0898	.|.	.|104;24;154;222;154;154;135;176;237;218;240;237;259;176	.|E9PDE4;B7Z8S8;B7Z5T6;B7Z468;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.|.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	C|M	193|254;176;259;237;259;240;237;218;240;237;222;176;162;154;176;104;154;162;127	.|ENSP00000422957:T254M;ENSP00000343421:T176M;ENSP00000425721:T259M;ENSP00000422951:T237M;ENSP00000379158:T259M;ENSP00000352098:T240M;ENSP00000320319:T237M;ENSP00000379157:T218M;ENSP00000396558:T240M;ENSP00000422176:T237M;ENSP00000422677:T222M;ENSP00000339914:T176M;ENSP00000421130:T162M;ENSP00000312523:T154M;ENSP00000422325:T176M;ENSP00000425670:T104M;ENSP00000426946:T154M;ENSP00000423638:T162M;ENSP00000422831:T127M	.|ENSP00000312523:T154M	R|T	+|+	1|2	0|0	CAST|CAST	96099385|96099385	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.049000|0.049000	0.14656|0.14656	-1.415000|-1.415000	0.02469|0.02469	0.641000|0.641000	0.30601|0.30601	0.655000|0.655000	0.94253|0.94253	CGT|ACG	.	.	none		0.373	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		T	96073629	C	T	96073629	3	4	38	1	0	0	0	0	1	0	0	0	2684	536	19	1	818	1	CAST	5	96073629	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	16122879	96073629	84841631	53	23827										
PCDHA7	56141	hgsc.bcm.edu	37	chr5	140216133	140216133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctgctgtacacggcgttgcGgtgctcagcgccgtcctctg	14	14	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:140216133G>T	ENST00000525929.1	+	1	2165	c.2165G>T	c.(2164-2166)cGg>cTg	p.R722L	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R722L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	722					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCGTTGCGGTGCTCAGCG	0.617																																					p.R722L	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											PCDHA7_ENST00000525929,NS,carcinoma,+1,2	PCDHA7	367	2	0			c.G2165T						scavenged	.						98	83	88					5																	140216133		2203	4300	6503	SO:0001583	missense	56141	exon1			CGTTGCGGTGCTC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2165G>T	5.37:g.140216133G>T	ENSP00000436426:p.Arg722Leu	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	94	3	0.0319149	NM_031852	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055633	0.55325	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.17213	2.29;2.29	3.57	3.57	0.40892	.	0.000000	0.29431	U	0.012169	T	0.45478	0.1344	M	0.93594	3.435	0.29044	N	0.884948	P;D	0.60160	0.906;0.987	P;P	0.60789	0.733;0.879	T	0.52953	-0.8506	10	0.87932	D	0	.	10.5413	0.45035	0.1008:0.0:0.8992:0.0	.	722;722	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	722	ENSP00000436426:R722L;ENSP00000367365:R722L	ENSP00000367365:R722L	R	+	2	0	PCDHA7	140196317	0.826000	0.29277	0.959000	0.39883	0.458000	0.32498	1.299000	0.33424	1.968000	0.57251	0.462000	0.41574	CGG	.	.	none		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		T	140216133	G	T	140216133	3	4	38	1	0	0	0	0	1	0	0	0	11529	1116	39	4	2167	4	PCDHA7	5	140216133	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	44142504	140216133	40699127	54	23828										
PCDHAC2	56134	hgsc.bcm.edu	37	chr5	140346765	140346765	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcgccgttgaggtggaaatAttggacatcaacgacaactc	11	9	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:140346765A>T	ENST00000289269.5	+	1	946	c.414A>T	c.(412-414)atA>atT	p.I138I	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	138	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGAAATATTGGACATCA	0.612																																					p.I138I	Melanoma(190;638 2083 3390 11909 52360)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.A414T						PASS	.						39	42	41					5																	140346765		2203	4300	6503	SO:0001819	synonymous_variant	56134	exon1			GGAAATATTGGAC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.414A>T	5.37:g.140346765A>T		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	155	47	0.303226	NM_031883	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																			.	.	none		0.612	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		T	140346765	A	T	140346765	2	4	38	1	0	0	0	0	0	0	0	1	11533	439	16	5		5	PCDHAC2	5	140346765	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	130632	140346765	40568495	55	23829										
KIF4B	285643	hgsc.bcm.edu	37	chr5	154394117	154394117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgacaagaattgcagctttcGctccaagctgcatcttgtag	9	10	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:154394117G>T	ENST00000435029.4	+	1	858	c.698G>T	c.(697-699)cGc>cTc	p.R233L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R233H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGCTTTCGCTCCAAGCTG	0.458																																					p.R233L		Atlas-SNP	.											KIF4B,NS,carcinoma,0,1	KIF4B	307	1	1	Substitution - Missense(1)	ovary(1)	c.G698T						scavenged	.						102	100	101					5																	154394117		2203	4300	6503	SO:0001583	missense	285643	exon1			GCTTTCGCTCCAA	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.698G>T	5.37:g.154394117G>T	ENSP00000387875:p.Arg233Leu	Somatic	285	0	0		WXS	Illumina HiSeq	Phase_I	269	4	0.0148699	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	6.664	0.491122	0.12702	.	.	ENSG00000226650	ENST00000435029	T	0.71934	-0.61	1.73	0.812	0.18744	Kinesin, motor domain (4);	.	.	.	.	T	0.55909	0.1950	L	0.41415	1.275	0.28492	N	0.914443	B	0.14012	0.009	B	0.23852	0.049	T	0.43589	-0.9382	9	0.14656	T	0.56	.	6.2361	0.20764	0.1823:0.0:0.8177:0.0	.	233	Q2VIQ3	KIF4B_HUMAN	L	233	ENSP00000387875:R233L	ENSP00000387875:R233L	R	+	2	0	KIF4B	154374310	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.239000	0.32719	0.293000	0.22520	0.655000	0.94253	CGC	.	.	none		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154394117	G	T	154394117	3	4	38	1	0	0	0	0	1	0	0	0	8304	1087	38	4	700	4	KIF4B	5	154394117	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	14047352	154394117	26521143	56	23830										
PWWP2A	114825	hgsc.bcm.edu	37	chr5	159520910	159520910	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctttcagccaagctcagctcGggatgcgggacaggagaagg	15	10	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:159520910G>T	ENST00000307063.7	-	2	781	c.747C>A	c.(745-747)ccC>ccA	p.P249P	PWWP2A_ENST00000523662.1_Silent_p.P249P|PWWP2A_ENST00000456329.3_Silent_p.P249P	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	249	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCAGCTCGGGATGCGGGA	0.507																																					p.P249P		Atlas-SNP	.											PWWP2A_ENST00000456329,caecum,carcinoma,0,3	PWWP2A	64	3	0			c.C747A						scavenged	.						119	118	118					5																	159520910		1977	4143	6120	SO:0001819	synonymous_variant	114825	exon2			CAGCTCGGGATGC		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.747C>A	5.37:g.159520910G>T		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	162	3	0.0185185	NM_052927	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	37	CCDS47332.1																																																																																			.	.	none		0.507	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			T	159520910	G	T	159520910	2	4	38	1	0	0	0	0	0	0	0	1	12845	1103	39	4		4	PWWP2A	5	159520910	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5126793	159520910	21394350	57	23831										
GABRA1	2554	hgsc.bcm.edu	37	chr5	161300240	161300240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caagtaaaatctggactccgGacacatttttccacaatgga	7	10	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:161300240G>A	ENST00000428797.2	+	6	728	c.373G>A	c.(373-375)Gac>Aac	p.D125N	GABRA1_ENST00000444819.1_Missense_Mutation_p.D125N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D125N|GABRA1_ENST00000437025.2_Missense_Mutation_p.D125N|GABRA1_ENST00000393943.4_Missense_Mutation_p.D125N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D125N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	125					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGGACTCCGGACACATTTTT	0.443																																					p.D125N		Atlas-SNP	.											.	GABRA1	132	.	0			c.G373A						PASS	.						74	71	72					5																	161300240		2203	4300	6503	SO:0001583	missense	2554	exon6			ACTCCGGACACAT		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.373G>A	5.37:g.161300240G>A	ENSP00000393097:p.Asp125Asn	Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	139	25	0.179856	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667549	0.96745	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel ligand-binding (3);	0.107767	0.64402	D	0.000006	D	0.94735	0.8301	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.95296	0.8399	10	0.87932	D	0	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	125	P14867	GBRA1_HUMAN	N	125	ENSP00000023897:D125N;ENSP00000393097:D125N;ENSP00000377517:D125N;ENSP00000415441:D125N;ENSP00000408041:D125N;ENSP00000414232:D125N	ENSP00000023897:D125N	D	+	1	0	GABRA1	161232818	1.000000	0.71417	0.947000	0.38551	0.873000	0.50193	9.751000	0.98889	2.773000	0.95371	0.585000	0.79938	GAC	.	.	none		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161300240	G	A	161300240	3	1	38	1	0	0	0	0	1	0	0	0	6160	1174	41	2	387	2	GABRA1	5	161300240	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1779330	161300240	19615020	58	23832										
GABRP	2568	hgsc.bcm.edu	37	chr5	170235620	170235620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcaggaaattacactagattGgtcttacagtttgagcttcg	9	7	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr5:170235620G>A	ENST00000518525.1	+	9	1160	c.696G>A	c.(694-696)ttG>ttA	p.L232L	GABRP_ENST00000265294.4_Silent_p.L232L|GABRP_ENST00000519385.1_Silent_p.L232L|GABRP_ENST00000519598.1_Silent_p.L232L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	232					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACACTAGATTGGTCTTACAGT	0.398																																					p.L232L		Atlas-SNP	.											.	GABRP	65	.	0			c.G696A						PASS	.						184	164	170					5																	170235620		2203	4300	6503	SO:0001819	synonymous_variant	2568	exon8			TAGATTGGTCTTA	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.696G>A	5.37:g.170235620G>A		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	87	13	0.149425	NM_014211	A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	CCDS4375.1																																																																																			.	.	none		0.398	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		A	170235620	G	A	170235620	2	1	38	1	0	0	0	0	0	0	0	1	6174	1339	47	2		2	GABRP	5	170235620	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	8935380	170235620	10679640	59	23833										
IRF4	3662	hgsc.bcm.edu	37	chr6	393159	393159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acggcacgcggggcatgaacCtggagggcggcggccgaggc	20	12	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:393159C>G	ENST00000380956.4	+	2	133	c.7C>G	c.(7-9)Ctg>Gtg	p.L3V	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	3					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGCATGAACCTGGAGGGCGG	0.721			T	IGH@	MM																																p.L3V		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C7G						PASS	.						13	17	16					6																	393159		2057	4045	6102	SO:0001583	missense	3662	exon2			ATGAACCTGGAGG	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.7C>G	6.37:g.393159C>G	ENSP00000370343:p.Leu3Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	74	17	0.22973	NM_001195286	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903550	0.52333	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97430	-4.38	5.0	-4.42	0.03579	.	2.154200	0.02356	N	0.076424	D	0.90212	0.6940	L	0.36672	1.1	0.42989	D	0.994487	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.38500	0.142;0.275;0.142	T	0.81324	-0.0984	10	0.51188	T	0.08	-13.6896	8.239	0.31650	0.0:0.1841:0.1273:0.6886	.	3;3;3	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	V	3;33	ENSP00000370343:L3V	ENSP00000370343:L3V	L	+	1	2	IRF4	338159	0.419000	0.25449	0.985000	0.45067	0.673000	0.39480	-0.471000	0.06631	-0.533000	0.06323	-0.683000	0.03753	CTG	.	.	none		0.721	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			G	393159	C	G	393159	3	3	38	1	0	0	0	0	1	0	0	0	7832	680	24	4	9	4	IRF4	6	393159	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		393159	170721908	60	23834										
SSR1	6745	hgsc.bcm.edu	37	chr6	7295651	7295651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gattcaatgtttcctgaggaAtccaactcatgtcaacatca	6	10	4	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:7295651A>G	ENST00000244763.4	-	7	853	c.767T>C	c.(766-768)aTt>aCt	p.I256T	RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000479365.1_Missense_Mutation_p.I256T|SSR1_ENST00000474597.1_Missense_Mutation_p.I256T|SSR1_ENST00000489567.1_Missense_Mutation_p.I188T|SSR1_ENST00000534851.1_Missense_Mutation_p.I229T|SSR1_ENST00000397511.2_Missense_Mutation_p.I256T	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	256					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					TTCCTGAGGAATCCAACTCAT	0.333																																					p.I256T		Atlas-SNP	.											.	SSR1	21	.	0			c.T767C						PASS	.						128	115	119					6																	7295651		2202	4300	6502	SO:0001583	missense	6745	exon7			TGAGGAATCCAAC		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.767T>C	6.37:g.7295651A>G	ENSP00000244763:p.Ile256Thr	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	103	11	0.106796	NM_003144	A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495748	0.85069	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567;ENST00000479365;ENST00000479485	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.74674	0.98;0.937;0.984	T	0.76323	-0.3001	10	0.87932	D	0	.	14.6236	0.68605	1.0:0.0:0.0:0.0	.	256;188;256	C9J5W0;C9JBX5;P43307	.;.;SSRA_HUMAN	T	256;256;256;229;188;256;93	ENSP00000418617:I256T;ENSP00000244763:I256T;ENSP00000380647:I256T;ENSP00000443020:I229T;ENSP00000420730:I188T;ENSP00000417911:I256T;ENSP00000419953:I93T	ENSP00000244763:I256T	I	-	2	0	SSR1	7240650	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.747000	0.91610	2.055000	0.61198	0.528000	0.53228	ATT	.	.	none		0.333	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2			G	7295651	A	G	7295651	3	3	38	1	0	0	0	0	1	0	0	0	15189	101	4	2	101	2	SSR1	6	7295651	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	6902492	7295651	163819416	61	23835										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156757	26156757	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgtccgagctcattactaaaGctgttgccgcctccaaggag	10	12	1	0	rs547695315		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:26156757G>C	ENST00000304218.3	+	1	199	c.139G>C	c.(139-141)Gct>Cct	p.A47P	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	47	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CATTACTAAAGCTGTTGCCGC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14468	0.0		0.0	False		,,,				2504	0.0				p.A47P		Atlas-SNP	.											HIST1H1E,NS,lymphoid_neoplasm,-1,1	HIST1H1E	69	1	0			c.G139C						PASS	.						22	27	25					6																	26156757		2203	4300	6503	SO:0001583	missense	3008	exon1			ACTAAAGCTGTTG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.139G>C	6.37:g.26156757G>C	ENSP00000307705:p.Ala47Pro	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	60	8	0.133333	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.954554	0.53293	.	.	ENSG00000168298	ENST00000304218	T	0.55760	0.5	5.49	5.49	0.81192	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.170654	0.52532	D	0.000080	D	0.83436	0.5254	H	0.99156	4.45	0.51482	D	0.999923	D	0.76494	0.999	D	0.79784	0.993	D	0.90132	0.4207	10	0.87932	D	0	-2.8941	18.7044	0.91632	0.0:0.0:1.0:0.0	.	47	P10412	H14_HUMAN	P	47	ENSP00000307705:A47P	ENSP00000307705:A47P	A	+	1	0	HIST1H1E	26264736	1.000000	0.71417	0.980000	0.43619	0.175000	0.22909	4.733000	0.62036	2.727000	0.93392	0.655000	0.94253	GCT	.	.	none		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		C	26156757	G	C	26156757	3	2	38	1	0	0	0	0	1	0	0	0	7126	971	34	4	141	4	HIST1H1E	6	26156757	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	18861106	26156757	144958310	62	23836			1	106		3	3	221	N	G_C	1.531848e-06
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156929	26156929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gggcaccggcgcgtcgggttCcttcaaactcaacaagaagg	13	12	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:26156929C>G	ENST00000304218.3	+	1	371	c.311C>G	c.(310-312)tCc>tGc	p.S104C	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	104	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGTCGGGTTCCTTCAAACTC	0.602																																					p.S104C		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.C311G						PASS	.						39	45	43					6																	26156929		2203	4300	6503	SO:0001583	missense	3008	exon1			CGGGTTCCTTCAA	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.311C>G	6.37:g.26156929C>G	ENSP00000307705:p.Ser104Cys	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	127	43	0.338583	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	19.18	3.777704	0.70107	.	.	ENSG00000168298	ENST00000304218	T	0.10960	2.82	5.35	5.35	0.76521	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	H	0.95850	3.73	0.80722	D	1	D	0.56287	0.975	D	0.64410	0.925	T	0.58725	-0.7586	10	0.87932	D	0	-5.7108	18.4042	0.90528	0.0:1.0:0.0:0.0	.	104	P10412	H14_HUMAN	C	104	ENSP00000307705:S104C	ENSP00000307705:S104C	S	+	2	0	HIST1H1E	26264908	1.000000	0.71417	0.711000	0.30485	0.551000	0.35334	7.751000	0.85126	2.658000	0.90341	0.561000	0.74099	TCC	.	.	none		0.602	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		G	26156929	C	G	26156929	3	3	38	1	0	0	0	0	1	0	0	0	7126	855	30	4	313	4	HIST1H1E	6	26156929	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	172	26156929	144958138	63	23837			1	106		3	3	221	N	G_C	1.531848e-06
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156977	26156977	+	Frame_Shift_Del	DEL	C	C	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggggaagccaagcctaaggCtaaaaaggcaggcgcggcca							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:26156977delC	ENST00000304218.3	+	1	419	c.359delC	c.(358-360)gctfs	p.A120fs	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	120					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGCCTAAGGCTAAAAAGGCA	0.642																																					p.A120fs		Pindel,Atlas-Indel	.											.	HIST1H1E	69	.	0			c.358delG						PASS	.						21	28	26					6																	26156977		2203	4300	6503	SO:0001589	frameshift_variant	3008	exon1			.	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.359delC	6.37:g.26156977delC	ENSP00000307705:p.Ala120fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	11	11	1	NM_005321	Q4VB25	Frame_Shift_Del	DEL	ENST00000304218.3	37	CCDS4586.1																																																																																			.	.	none		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		-	26156977	C	-	26156977	7	5	38	1	0	1	0	1	0	0	0	0	7126	797	28	0	361	0	HIST1H1E	6	26156977	Frame_Shift_Del	DEL	C	TCGA-RQ-A68N-01A-11D-A31X-10	48	26156977	144958090	64	23838			1	106		3	3	221	N	G_C	1.531848e-06
HIST1H2AE	3012	hgsc.bcm.edu	37	chr6	26217410	26217410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcttagagctagctggcaacGcggctcgcgacaataagaag	12	10	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:26217410G>A	ENST00000303910.2	+	1	246	c.208G>A	c.(208-210)Gcg>Acg	p.A70T	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	70						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGCTGGCAACGCGGCTCGCGA	0.592																																					p.A70T		Atlas-SNP	.											.	HIST1H2AE	25	.	0			c.G208A						PASS	.						60	61	61					6																	26217410		2203	4300	6503	SO:0001583	missense	3012	exon1			GGCAACGCGGCTC	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.208G>A	6.37:g.26217410G>A	ENSP00000303373:p.Ala70Thr	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	106	13	0.122642	NM_021052	P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	19.05	3.751476	0.69533	.	.	ENSG00000168274	ENST00000303910	T	0.69685	-0.42	4.07	4.07	0.47477	.	0.000000	0.33732	U	0.004605	T	0.80670	0.4667	M	0.89658	3.05	0.52099	D	0.999946	.	.	.	.	.	.	D	0.85308	0.1077	8	0.72032	D	0.01	.	15.7762	0.78220	0.0:0.0:1.0:0.0	.	.	.	.	T	70	ENSP00000303373:A70T	ENSP00000303373:A70T	A	+	1	0	HIST1H2AE	26325389	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.549000	0.82163	2.263000	0.75096	0.650000	0.86243	GCG	.	.	none		0.592	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		A	26217410	G	A	26217410	3	1	38	1	0	0	0	0	1	0	0	0	7132	1087	38	1	210	1	HIST1H2AE	6	26217410	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	60433	26217410	144897657	65	23839										
HIST1H2BM	8342	hgsc.bcm.edu	37	chr6	27782969	27782969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acaaggtgctgaagcaggtcCaccccgacaccggcatctct	10	15	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:27782969C>T	ENST00000359465.4	+	1	148	c.148C>T	c.(148-150)Cac>Tac	p.H50Y	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	50					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H50Y(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCAGGTCCACCCCGACAC	0.542																																					p.H50Y		Atlas-SNP	.											HIST1H2BM,NS,malignant_melanoma,0,1	HIST1H2BM	36	1	1	Substitution - Missense(1)	NS(1)	c.C148T						PASS	.						198	187	191					6																	27782969		2203	4300	6503	SO:0001583	missense	8342	exon1			CAGGTCCACCCCG	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.148C>T	6.37:g.27782969C>T	ENSP00000352442:p.His50Tyr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	65	17	0.261538	NM_003521	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	5.665	0.307325	0.10733	.	.	ENSG00000196374	ENST00000359465	T	0.23754	1.89	4.29	2.43	0.29744	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000009	T	0.29850	0.0746	M	0.94021	3.485	0.51482	D	0.999929	P	0.36535	0.557	B	0.41917	0.37	T	0.23404	-1.0189	10	0.66056	D	0.02	.	10.2104	0.43136	0.1534:0.6988:0.1478:0.0	.	50	Q99879	H2B1M_HUMAN	Y	50	ENSP00000352442:H50Y	ENSP00000352442:H50Y	H	+	1	0	HIST1H2BM	27890948	1.000000	0.71417	0.954000	0.39281	0.007000	0.05969	5.538000	0.67193	0.512000	0.28257	-0.309000	0.09137	CAC	.	.	none		0.542	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		T	27782969	C	T	27782969	3	4	38	1	0	0	0	0	1	0	0	0	7152	594	21	2	150	2	HIST1H2BM	6	27782969	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1565559	27782969	143332098	66	23840										
HIST1H4K	8362	hgsc.bcm.edu	37	chr6	27799131	27799131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gttctccaggaacaccttcaGcaccccgcgagtctcctcgt	8	17	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:27799131G>A	ENST00000357549.2	-	1	174	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AACACCTTCAGCACCCCGCGA	0.637																																					p.L59L		Atlas-SNP	.											HIST1H4K,NS,carcinoma,+2,1	HIST1H4K	15	1	0			c.C175T						scavenged	.						10	12	11					6																	27799131		2147	4241	6388	SO:0001819	synonymous_variant	8362	exon1			CCTTCAGCACCCC	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.175C>T	6.37:g.27799131G>A		Somatic	358	0	0		WXS	Illumina HiSeq	Phase_I	292	23	0.0787671	NM_003541	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000357549.2	37	CCDS4631.1																																																																																			.	.	none		0.637	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		A	27799131	G	A	27799131	2	1	38	1	0	0	0	0	0	0	0	1	7175	962	34	2		2	HIST1H4K	6	27799131	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	16162	27799131	143315936	67	23841										
HIST1H2AM	8336	hgsc.bcm.edu	37	chr6	27860580	27860580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctctcagtcttcttggggagCagtacggcctggatgttagg	14	9	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:27860580C>T	ENST00000359611.2	-	1	383	c.348G>A	c.(346-348)ctG>ctA	p.L116L	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	116						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TCTTGGGGAGCAGTACGGCCT	0.502																																					p.L116L		Atlas-SNP	.											.	HIST1H2AM	27	.	0			c.G348A						PASS	.						131	126	128					6																	27860580		2203	4300	6503	SO:0001819	synonymous_variant	8336	exon1			GGGGAGCAGTACG	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.348G>A	6.37:g.27860580C>T		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	182	25	0.137363	NM_003514	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	CCDS4639.1																																																																																			.	.	none		0.502	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		T	27860580	C	T	27860580	2	4	38	1	0	0	0	0	0	0	0	1	7139	697	25	2		2	HIST1H2AM	6	27860580	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	61449	27860580	143254487	68	23842										
OR12D2	26529	hgsc.bcm.edu	37	chr6	29365028	29365028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gatattaagccattgctaaaGctggcctgtgggaacactga	11	8	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:29365028G>A	ENST00000383555.2	+	1	613	c.552G>A	c.(550-552)aaG>aaA	p.K184K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CATTGCTAAAGCTGGCCTGTG	0.473																																					p.K184K		Atlas-SNP	.											.	OR12D2	42	.	0			c.G552A						PASS	.						165	168	167					6																	29365028		1511	2709	4220	SO:0001819	synonymous_variant	26529	exon1			GCTAAAGCTGGCC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.552G>A	6.37:g.29365028G>A		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	101	17	0.168317	NM_013936	B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	CCDS4659.1																																																																																			.	.	none		0.473	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			A	29365028	G	A	29365028	2	1	38	1	0	0	0	0	0	0	0	1	10931	962	34	2		2	OR12D2	6	29365028	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1504448	29365028	141750039	69	23843										
RNF39	80352	hgsc.bcm.edu	37	chr6	30039324	30039324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggccggccccgaagccctgcGcacccagcacagctgggagc	14	18	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:30039324G>A	ENST00000244360.6	-	4	924	c.827C>T	c.(826-828)gCg>gTg	p.A276V	RNF39_ENST00000376751.3_Missense_Mutation_p.A276V	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	276	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GAAGCCCTGCGCACCCAGCAC	0.716																																					p.A276V	NSCLC(8;188 360 1520 20207 31481)	Atlas-SNP	.											.	RNF39	27	.	0			c.C827T						PASS	.						3	3	3					6																	30039324		1332	2321	3653	SO:0001583	missense	80352	exon4			CCCTGCGCACCCA	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.827C>T	6.37:g.30039324G>A	ENSP00000244360:p.Ala276Val	Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	16	6	0.375	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.518055	0.85495	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10860	2.83;2.83	4.54	4.54	0.55810	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.43919	D	0.000520	T	0.15955	0.0384	L	0.47716	1.5	0.41952	D	0.990666	D;D	0.69078	0.996;0.997	P;D	0.63488	0.853;0.915	T	0.00857	-1.1538	10	0.56958	D	0.05	-16.6616	15.217	0.73277	0.0:0.0:1.0:0.0	.	276;276	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	V	276	ENSP00000365942:A276V;ENSP00000244360:A276V	ENSP00000244360:A276V	A	-	2	0	RNF39	30147303	0.000000	0.05858	0.882000	0.34594	0.806000	0.45545	0.239000	0.18023	2.252000	0.74401	0.282000	0.19409	GCG	.	.	none		0.716	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		A	30039324	G	A	30039324	3	1	38	1	0	0	0	0	1	0	0	0	13491	1087	38	1	439	1	RNF39	6	30039324	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	674296	30039324	141075743	70	23844										
SPDEF	25803	hgsc.bcm.edu	37	chr6	34511927	34511927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggcaccaagtccaggctgccCgctggggcttggctgtcaat	14	13	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:34511927C>T	ENST00000374037.3	-	2	720	c.306G>A	c.(304-306)gcG>gcA	p.A102A	SPDEF_ENST00000544425.1_Silent_p.A102A	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCAGGCTGCCCGCTGGGGCTT	0.672																																					p.A102A		Atlas-SNP	.											SPDEF,colon,carcinoma,0,1	SPDEF	34	1	0			c.G306A						PASS	.						36	37	37					6																	34511927		2203	4300	6503	SO:0001819	synonymous_variant	25803	exon2			GCTGCCCGCTGGG	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.306G>A	6.37:g.34511927C>T		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	43	9	0.209302	NM_001252294	B4DWH8|F5H778	Silent	SNP	ENST00000374037.3	37	CCDS4794.1																																																																																			.	.	none		0.672	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		T	34511927	C	T	34511927	2	4	38	1	0	0	0	0	0	0	0	1	15025	639	23	1		1	SPDEF	6	34511927	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	4472603	34511927	136603140	71	23845										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138355	37138355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acatcctggaggttgggatgCtcttgtccaaaatcaactcg	10	10	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:37138355C>G	ENST00000373509.5	+	1	377	c.4C>G	c.(4-6)Ctc>Gtc	p.L2V		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	93					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.L2V(1)|p.L2F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGTTGGGATGCTCTTGTCCAA	0.701			T	BCL6	NHL																																p.L93V		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,3	PIM1	71	3	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C277G						scavenged	.						30	30	30					6																	37138355		2201	4298	6499	SO:0001583	missense	5292	exon1			GGGATGCTCTTGT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.4C>G	6.37:g.37138355C>G	ENSP00000362608:p.Leu2Val	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	44	7	0.159091	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688054	0.88639	.	.	ENSG00000137193	ENST00000373509	T	0.70164	-0.46	4.05	4.05	0.47172	.	0.000000	0.32147	N	0.006517	T	0.36468	0.0968	N	0.08118	0	0.45390	D	0.998372	P	0.38020	0.615	B	0.37091	0.241	T	0.55198	-0.8178	10	0.72032	D	0.01	.	16.7252	0.85419	0.0:1.0:0.0:0.0	.	93	P11309	PIM1_HUMAN	V	2	ENSP00000362608:L2V	ENSP00000362608:L2V	L	+	1	0	PIM1	37246333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.672000	0.61597	2.211000	0.71520	0.542000	0.68232	CTC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			G	37138355	C	G	37138355	3	3	38	1	0	0	0	0	1	0	0	0	11927	797	28	4	6	4	PIM1	6	37138355	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2626428	37138355	133976712	72	23846			2	107	10981378	4	4	599	N	G_C	1.794933e-08
PIM1	5292	hgsc.bcm.edu	37	chr6	37138549	37138549	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgtgcttccccctttcctagGcaaggagaaggagcccctgg	12	14	0	1	rs377274719		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:37138549G>A	ENST00000373509.5	+	2	456	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	119					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCTTTCCTAGGCAAGGAGAAG	0.721			T	BCL6	NHL																																p.G119D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,3	PIM1	71	3	0			c.G356A						scavenged	.	G	ASP/GLY	1,4257		0,1,2128	18	26	23		83	3.8	1	6		23	0,8506		0,0,4253	no	missense-near-splice	PIM1	NM_002648.3	94	0,1,6381	AA,AG,GG		0.0,0.0235,0.0078	probably-damaging	28/314	37138549	1,12763	2129	4253	6382	SO:0001630	splice_region_variant	5292	exon2			TCCTAGGCAAGGA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.83-1G>A	6.37:g.37138549G>A		Somatic	53	1	0.0188679		WXS	Illumina HiSeq	Phase_I	56	6	0.107143	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215565	0.39102	2.35E-4	0.0	ENSG00000137193	ENST00000373509	T	0.69306	-0.39	3.83	3.83	0.44106	Protein kinase-like domain (1);	0.187844	0.33772	N	0.004562	T	0.23330	0.0564	N	0.08118	0	0.30455	N	0.774827	P	0.42827	0.791	B	0.36719	0.231	T	0.07083	-1.0791	9	.	.	.	.	9.7286	0.40348	0.0983:0.0:0.9017:0.0	.	119	P11309	PIM1_HUMAN	D	28	ENSP00000362608:G28D	.	G	+	2	0	PIM1	37246527	0.119000	0.22226	0.998000	0.56505	0.963000	0.63663	-0.036000	0.12185	2.138000	0.66242	0.549000	0.68633	GGC	.	.	weak		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		Missense_Mutation	A	37138549	G	A	37138549	5	1	38	1	0	0	0	0	0	0	1	0	11927	1217	42	2	89	2	PIM1	6	37138549	Splice_Site	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	194	37138549	133976518	73	23847			2	107	10981378	4	4	599	N	G_C	1.794933e-08
PIM1	5292	hgsc.bcm.edu	37	chr6	37138791	37138791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgtggagaaggaccggatttCcgactggggagagctggtga	18	7	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:37138791C>T	ENST00000373509.5	+	3	597	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	166					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.S75F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GACCGGATTTCCGACTGGGGA	0.701			T	BCL6	NHL																																p.S166F		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,carcinoma,0,1	PIM1	71	1	1	Substitution - Missense(1)	lung(1)	c.C497T						PASS	.						53	55	55					6																	37138791		2203	4300	6503	SO:0001583	missense	5292	exon3			GGATTTCCGACTG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.224C>T	6.37:g.37138791C>T	ENSP00000362608:p.Ser75Phe	Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	143	28	0.195804	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566693	0.28003	.	.	ENSG00000137193	ENST00000373509	T	0.67171	-0.25	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073980	0.53938	D	0.000044	T	0.47764	0.1463	L	0.47716	1.5	0.47621	D	0.999477	B	0.29270	0.24	B	0.29663	0.105	T	0.48747	-0.9008	10	0.25751	T	0.34	.	17.2083	0.86924	0.0:1.0:0.0:0.0	.	166	P11309	PIM1_HUMAN	F	75	ENSP00000362608:S75F	ENSP00000362608:S75F	S	+	2	0	PIM1	37246769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.030000	0.76484	2.468000	0.83385	0.549000	0.68633	TCC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138791	C	T	37138791	3	4	38	1	0	0	0	0	1	0	0	0	11927	855	30	2	234	2	PIM1	6	37138791	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	242	37138791	133976276	74	23848			2	107	10981378	4	4	599	N	G_C	1.794933e-08
PIM1	5292	hgsc.bcm.edu	37	chr6	37138953	37138953	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cctgctgaagaaggtgagctCgggtttctccggcgtcatta	13	10	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:37138953C>A	ENST00000373509.5	+	4	666	c.293C>A	c.(292-294)tCg>tAg	p.S98*		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	189					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AAGGTGAGCTCGGGTTTCTCC	0.647			T	BCL6	NHL																																p.S189X		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C566A						PASS	.						84	94	90					6																	37138953		2203	4300	6503	SO:0001587	stop_gained	5292	exon4			TGAGCTCGGGTTT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.293C>A	6.37:g.37138953C>A	ENSP00000362608:p.Ser98*	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	87	23	0.264368	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Nonsense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	40	8.002206	0.98605	.	.	ENSG00000137193	ENST00000373509	.	.	.	4.28	4.28	0.50868	.	0.237529	0.32769	N	0.005670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8746	0.86048	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000362608:S98X	S	+	2	0	PIM1	37246931	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.684000	0.61686	2.371000	0.80710	0.549000	0.68633	TCG	.	.	none		0.647	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138953	C	A	37138953	4	1	38	1	0	0	0	0	0	1	0	0	11927	893	31	4	307	4	PIM1	6	37138953	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	162	37138953	133976114	75	23849			2	107	10981378	4	4	599	N	G_C	1.794933e-08
GPR116	221395	hgsc.bcm.edu	37	chr6	46845956	46845956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cacctggaatatttatttttCcttcctgcttccattctact	3	12	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:46845956C>A	ENST00000283296.7	-	10	1511	c.1223G>T	c.(1222-1224)gGa>gTa	p.G408V	GPR116_ENST00000265417.7_Missense_Mutation_p.G408V|GPR116_ENST00000362015.4_Missense_Mutation_p.G408V|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	408	Ig-like 2.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTTATTTTTCCTTCCTGCTT	0.408																																					p.G408V	NSCLC(59;410 1274 8751 36715 50546)	Atlas-SNP	.											GPR116,NS,malignant_melanoma,-1,1	GPR116	133	1	0			c.G1223T						PASS	.						153	147	149					6																	46845956		2203	4300	6503	SO:0001583	missense	221395	exon10			ATTTTTCCTTCCT	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1223G>T	6.37:g.46845956C>A	ENSP00000283296:p.Gly408Val	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	171	29	0.169591	NM_015234	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497890	0.64186	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.43688	0.94;1.39;0.94	6.02	6.02	0.97574	Immunoglobulin-like (1);	0.000000	0.64402	D	0.000007	T	0.58409	0.2120	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.59225	-0.7494	10	0.66056	D	0.02	-21.2525	16.0408	0.80680	0.0:1.0:0.0:0.0	.	408;408;408	E9PBS6;A8K0D8;Q8IZF2	.;.;GP116_HUMAN	V	408	ENSP00000283296:G408V;ENSP00000354563:G408V;ENSP00000265417:G408V	ENSP00000265417:G408V	G	-	2	0	GPR116	46953915	0.275000	0.24201	0.316000	0.25252	0.830000	0.47004	2.146000	0.42216	2.865000	0.98341	0.655000	0.94253	GGA	.	.	none		0.408	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46845956	C	A	46845956	3	1	38	1	0	0	0	0	1	0	0	0	6633	855	30	4	2865	4	GPR116	6	46845956	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	9707003	46845956	124269111	76	23850										
DST	667	hgsc.bcm.edu	37	chr6	56350230	56350230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcctgtagggcatctgtgaaTtgtccagaaaataacagggc	12	8	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:56350230T>G	ENST00000361203.3	-	83	20134	c.20127A>C	c.(20125-20127)caA>caC	p.Q6709H	DST_ENST00000446842.2_Missense_Mutation_p.Q6494H|DST_ENST00000370788.2_Missense_Mutation_p.Q4623H|DST_ENST00000421834.2_Missense_Mutation_p.Q4732H|DST_ENST00000370769.4_Missense_Mutation_p.Q6820H|DST_ENST00000370754.5_Missense_Mutation_p.Q6998H|DST_ENST00000244364.6_Missense_Mutation_p.Q4406H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6708					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTGTGAATTGTCCAGAAA	0.408																																					p.Q4406H		Atlas-SNP	.											.	DST	1427	.	0			c.A13218C						PASS	.						60	58	59					6																	56350230		1822	4072	5894	SO:0001583	missense	667	exon69			TGTGAATTGTCCA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20127A>C	6.37:g.56350230T>G	ENSP00000354508:p.Gln6709His	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	103	21	0.203883	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	14.11	2.438295	0.43326	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.76	0.0736	0.14391	.	0.000000	0.52532	D	0.000071	T	0.59088	0.2168	M	0.78456	2.415	0.32844	D	0.505733	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.94;0.999;0.998	T	0.64993	-0.6276	9	0.62326	D	0.03	.	11.513	0.50504	0.0:0.4674:0.0:0.5326	.	4732;6820;6998;102;6818;4406	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	H	4406;6998;6820;4732;6494;4623;6709	ENSP00000244364:Q4406H;ENSP00000359790:Q6998H;ENSP00000359805:Q6820H;ENSP00000400883:Q4732H;ENSP00000393645:Q6494H;ENSP00000359824:Q4623H;ENSP00000354508:Q6709H	ENSP00000244364:Q4406H	Q	-	3	2	DST	56458189	0.986000	0.35501	0.997000	0.53966	0.669000	0.39330	0.216000	0.17585	-0.125000	0.11703	-0.263000	0.10527	CAA	.	.	none		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56350230	T	G	56350230	3	3	38	1	0	0	0	0	1	0	0	0	4783	1490	52	5	2361	5	DST	6	56350230	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	9504274	56350230	114764837	77	23851										
MDN1	23195	hgsc.bcm.edu	37	chr6	90423000	90423000	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tctggattagagttgatacaGaagatgttggagaacctatt	11	4	1	5			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:90423000G>A	ENST00000369393.3	-	47	7200	c.7085C>T	c.(7084-7086)tCt>tTt	p.S2362F	MDN1_ENST00000428876.1_Missense_Mutation_p.S2362F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2362					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTGATACAGAAGATGTTGG	0.383																																					p.S2362F		Atlas-SNP	.											.	MDN1	478	.	0			c.C7085T						PASS	.						122	132	129					6																	90423000		2203	4300	6503	SO:0001583	missense	23195	exon47			GATACAGAAGATG	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7085C>T	6.37:g.90423000G>A	ENSP00000358400:p.Ser2362Phe	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	54	25	0.462963	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234635	0.22626	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03580	3.88;3.88	5.94	4.12	0.48240	.	0.137285	0.51477	D	0.000097	T	0.06325	0.0163	M	0.68952	2.095	0.47476	D	0.999437	D	0.60575	0.988	P	0.57679	0.825	T	0.04268	-1.0964	10	0.87932	D	0	.	11.7102	0.51620	0.0665:0.1243:0.8092:0.0	.	2362	Q9NU22	MDN1_HUMAN	F	2362	ENSP00000358400:S2362F;ENSP00000413970:S2362F	ENSP00000358400:S2362F	S	-	2	0	MDN1	90479721	0.999000	0.42202	0.218000	0.23776	0.721000	0.41392	4.186000	0.58337	0.809000	0.34255	-0.262000	0.10625	TCT	.	.	none		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90423000	G	A	90423000	3	1	38	1	0	0	0	0	1	0	0	0	9415	942	33	2	9929	2	MDN1	6	90423000	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	34072770	90423000	80692067	78	23852										
PRDM1	639	hgsc.bcm.edu	37	chr6	106553289	106553289	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aagttcctcttgcccccctaCggcatgaattgtaatggcct	8	13	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:106553289C>G	ENST00000369096.4	+	5	1488	c.1254C>G	c.(1252-1254)taC>taG	p.Y418*	PRDM1_ENST00000369091.2_Nonsense_Mutation_p.Y382*|PRDM1_ENST00000369089.3_Nonsense_Mutation_p.Y284*	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	418					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCCCCCCTACGGCATGAATT	0.587			"D, N, Mis, F, S"		DLBCL																																p.Y418X		Atlas-SNP	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	.	PRDM1	195	.	0			c.C1254G						PASS	.						77	58	65					6																	106553289		2203	4300	6503	SO:0001587	stop_gained	639	exon5			CCCCTACGGCATG		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1254C>G	6.37:g.106553289C>G	ENSP00000358092:p.Tyr418*	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	33	21	0.636364	NM_001198	B2REA6|E1P5E0|Q86WM7	Nonsense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	35	5.568123	0.96540	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	.	.	.	5.32	-4.24	0.03777	.	0.055914	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8074	15.6863	0.77411	0.0:0.3976:0.0:0.6024	.	.	.	.	X	382;418;382;284	.	ENSP00000358085:Y284X	Y	+	3	2	PRDM1	106659982	0.001000	0.12720	0.465000	0.27155	0.971000	0.66376	-1.479000	0.02327	-0.847000	0.04168	-0.150000	0.13652	TAC	.	.	none		0.587	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			G	106553289	C	G	106553289	4	3	38	1	0	0	0	0	0	1	0	0	12450	547	19	4	1285	4	PRDM1	6	106553289	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	16130289	106553289	64561778	79	23853										
SERINC1	57515	hgsc.bcm.edu	37	chr6	122766211	122766211	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agtcaaaatcacgatttgtaAgaacaagtggtgccacgagt	10	7	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:122766211A>C	ENST00000339697.4	-	10	1424	c.1340T>G	c.(1339-1341)cTt>cGt	p.L447R		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	447					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ACGATTTGTAAGAACAAGTGG	0.413																																					p.L447R		Atlas-SNP	.											.	SERINC1	39	.	0			c.T1340G						PASS	.						97	86	89					6																	122766211		2203	4300	6503	SO:0001583	missense	57515	exon10			TTTGTAAGAACAA	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1340T>G	6.37:g.122766211A>C	ENSP00000342962:p.Leu447Arg	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	43	24	0.55814	NM_020755	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722297	0.89298	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.19250	2.16;2.16	5.59	5.59	0.84812	.	0.125021	0.56097	D	0.000040	T	0.44912	0.1316	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.55457	-0.8138	10	0.87932	D	0	-16.0237	15.7663	0.78128	1.0:0.0:0.0:0.0	.	447	Q9NRX5	SERC1_HUMAN	R	447	ENSP00000342962:L447R;ENSP00000357439:L447R	ENSP00000342962:L447R	L	-	2	0	SERINC1	122807910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.315000	0.96313	2.124000	0.65301	0.533000	0.62120	CTT	.	.	none		0.413	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		C	122766211	A	C	122766211	3	2	38	1	0	0	0	0	1	0	0	0	14079	72	3	5	25	5	SERINC1	6	122766211	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	16212922	122766211	48348856	80	23854										
KIAA1244	57221	hgsc.bcm.edu	37	chr6	138645253	138645253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgtcctcctccccaagtgccGaggccgagtactggcgcatc	11	17	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:138645253G>A	ENST00000251691.4	+	31	5129	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCAAGTGCCGAGGCCGAGTA	0.647																																					p.E1655K		Atlas-SNP	.											.	KIAA1244	236	.	0			c.G4963A						PASS	.						37	42	40					6																	138645253		2203	4299	6502	SO:0001583	missense	57221	exon31			AGTGCCGAGGCCG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4963G>A	6.37:g.138645253G>A	ENSP00000251691:p.Glu1655Lys	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	43	7	0.162791	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898200	0.91962	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.07233	-1.0783	10	0.66056	D	0.02	-15.4417	19.6229	0.95667	0.0:0.0:1.0:0.0	.	1655	Q5TH69	BIG3_HUMAN	K	1655	ENSP00000251691:E1655K	ENSP00000251691:E1655K	E	+	1	0	KIAA1244	138686946	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.388000	0.97237	2.708000	0.92522	0.650000	0.86243	GAG	.	.	none		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138645253	G	A	138645253	3	1	38	1	0	0	0	0	1	0	0	0	8217	1059	37	1	5085	1	KIAA1244	6	138645253	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	15879042	138645253	32469814	81	23855										
TBP	6908	hgsc.bcm.edu	37	chr6	170871044	170871046	+	In_Frame_Del	DEL	CAA	CAA	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcagcagcagcagcaacagCaacagcagcagcagcagcag					rs369312237|rs62430309	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr6:170871044_170871046delCAA	ENST00000392092.2	+	3	499_501	c.220_222delCAA	c.(220-222)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcaacagcaacagcagcagc	0.567																																					p.73_74del		Atlas-Indel	.											TBP,NS,carcinoma,0,1	TBP	58	1	0			c.219_221del						PASS	.																																			SO:0001651	inframe_deletion	6908	exon3			.	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.220_222delCAA	6.37:g.170871044_170871046delCAA	ENSP00000375942:p.Gln95del	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	22	14	0.636364	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	CCDS5315.1																																																																																			.	.	none		0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		-	170871046	CAA	-	170871044	7	5	38	1	0	1	0	1	0	0	0	0	15641	711	25	0	226	0	TBP	6	170871044	In_Frame_Del	DEL	CAA	TCGA-RQ-A68N-01A-11D-A31X-10	32225791	170871044	244023	82	23856										
AMZ1	155185	hgsc.bcm.edu	37	chr7	2748854	2748854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgggccctgtgcttcagtgcCctggggatggttcagtgctg	16	10	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:2748854C>T	ENST00000312371.4	+	5	1115	c.747C>T	c.(745-747)gcC>gcT	p.A249A	AMZ1_ENST00000407112.1_Intron|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	249							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCTTCAGTGCCCTGGGGATGG	0.682																																					p.A249A		Atlas-SNP	.											.	AMZ1	41	.	0			c.C747T						PASS	.						16	20	18					7																	2748854		2196	4292	6488	SO:0001819	synonymous_variant	155185	exon5			CAGTGCCCTGGGG	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.747C>T	7.37:g.2748854C>T		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	37	9	0.243243	NM_133463	B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	CCDS34589.1																																																																																			.	.	none		0.682	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		T	2748854	C	T	2748854	2	4	38	1	0	0	0	0	0	0	0	1	596	610	22	2		2	AMZ1	7	2748854	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		2748854	156389809	83	23857										
IGF2BP3	10643	hgsc.bcm.edu	37	chr7	23353246	23353246	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctaacaaagttttcttctttAatttttccataaattcttcc	1	9	3	0	rs199812608		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:23353246A>C	ENST00000258729.3	-	13	1778	c.1422T>G	c.(1420-1422)atT>atG	p.I474M		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	474					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.I474M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTCTTCTTTAATTTTTCCAT	0.383																																					p.I474M		Atlas-SNP	.											IGF2BP3,NS,carcinoma,0,1	IGF2BP3	71	1	1	Substitution - Missense(1)	endometrium(1)	c.T1422G						scavenged	.						87	84	85					7																	23353246		2203	4300	6503	SO:0001583	missense	10643	exon13			TTCTTTAATTTTT	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1422T>G	7.37:g.23353246A>C	ENSP00000258729:p.Ile474Met	Somatic	75	1	0.0133333		WXS	Illumina HiSeq	Phase_I	73	3	0.0410959	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582136	0.28180	.	.	ENSG00000136231	ENST00000258729	T	0.65916	-0.18	5.55	1.78	0.24846	K Homology (1);	0.172230	0.51477	D	0.000097	T	0.28764	0.0713	N	0.04880	-0.145	0.35528	D	0.802005	P	0.37158	0.585	B	0.32090	0.14	T	0.14392	-1.0474	10	0.22109	T	0.4	-2.3591	2.611	0.04891	0.6156:0.126:0.1369:0.1214	.	474	O00425	IF2B3_HUMAN	M	474	ENSP00000258729:I474M	ENSP00000258729:I474M	I	-	3	3	IGF2BP3	23319771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.434000	0.34958	0.449000	0.26747	0.533000	0.62120	ATT	.	.	weak		0.383	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		C	23353246	A	C	23353246	3	2	38	1	0	0	0	0	1	0	0	0	7575	358	13	5	329	5	IGF2BP3	7	23353246	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	20604392	23353246	135785417	84	23858										
PEX1	5189	hgsc.bcm.edu	37	chr7	92146905	92146905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aatacatgaatggcacagtgTttatgaaaaacagaggttgc	10	5	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:92146905T>C	ENST00000248633.4	-	5	1019	c.924A>G	c.(922-924)aaA>aaG	p.K308K	PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Silent_p.K308K|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	308					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGGCACAGTGTTTATGAAAAA	0.383																																					p.K308K		Atlas-SNP	.											.	PEX1	102	.	0			c.A924G						PASS	.						73	68	69					7																	92146905		2203	4300	6503	SO:0001819	synonymous_variant	5189	exon5			ACAGTGTTTATGA	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.924A>G	7.37:g.92146905T>C		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	119	76	0.638655	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																			.	.	none		0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		C	92146905	T	C	92146905	2	2	38	1	0	0	0	0	0	0	0	1	11735	1722	60	2		2	PEX1	7	92146905	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	68793659	92146905	66991758	85	23859										
MUC17	140453	hgsc.bcm.edu	37	chr7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagcaccacgccagtggccaTtcctgaggctagcacccttt	9	16	0	1	rs145514577		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	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)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0				p.I3060S		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	0			c.T9179G						scavenged	.						275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453	exon3			TGGCCATTCCTGA	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.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser	Somatic	32	3	0.09375		WXS	Illumina HiSeq	Phase_I	23	4	0.173913	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT	.	.	weak		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100683876	T	G	100683876	3	3	38	1	0	0	0	0	1	0	0	0	9974	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	8536971	100683876	58454787	86	23860										
DGKI	9162	hgsc.bcm.edu	37	chr7	137092719	137092719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cctgaattagcagactgcctCcatttttatagctttctatt	5	10	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:137092719C>G	ENST00000288490.5	-	31	2846	c.2846G>C	c.(2845-2847)gGa>gCa	p.G949A	DGKI_ENST00000424189.2_Missense_Mutation_p.G962A|DGKI_ENST00000446122.1_Missense_Mutation_p.G931A|DGKI_ENST00000453654.2_Missense_Mutation_p.G618A|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	949					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						CAGACTGCCTCCATTTTTATA	0.433																																					p.G949A		Atlas-SNP	.											.	DGKI	335	.	0			c.G2846C						PASS	.						151	139	143					7																	137092719		2203	4300	6503	SO:0001583	missense	9162	exon31			CTGCCTCCATTTT	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.2846G>C	7.37:g.137092719C>G	ENSP00000288490:p.Gly949Ala	Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	113	62	0.548673	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252341	0.80135	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.49720	0.77;0.77;0.77	5.6	5.6	0.85130	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.969;0.985	P;P	0.59948	0.776;0.866	T	0.57900	-0.7731	10	0.66056	D	0.02	.	17.8057	0.88600	0.0:1.0:0.0:0.0	.	618;949	E9PFX6;O75912	.;DGKI_HUMAN	A	618;866;952;949;931	ENSP00000392161:G618A;ENSP00000288490:G949A;ENSP00000399131:G931A	ENSP00000288490:G949A	G	-	2	0	DGKI	136743259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.019000	0.64060	2.636000	0.89361	0.655000	0.94253	GGA	.	.	none		0.433	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		G	137092719	C	G	137092719	3	3	38	1	0	0	0	0	1	0	0	0	4471	855	30	4	367	4	DGKI	7	137092719	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	36408843	137092719	22045944	87	23861										
TAS2R39	259285	hgsc.bcm.edu	37	chr7	142881334	142881334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcattctctacattttcaatGcagttgctctgtttatctac	4	10	5	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:142881334G>A	ENST00000446620.1	+	1	823	c.823G>A	c.(823-825)Gca>Aca	p.A275T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	275					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CATTTTCAATGCAGTTGCTCT	0.488																																					p.A275T		Atlas-SNP	.											.	TAS2R39	42	.	0			c.G823A						PASS	.						147	136	139					7																	142881334		1923	4142	6065	SO:0001583	missense	259285	exon1			TTCAATGCAGTTG	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.823G>A	7.37:g.142881334G>A	ENSP00000405095:p.Ala275Thr	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	82	57	0.695122	NM_176881	A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	8.428	0.847872	0.17034	.	.	ENSG00000236398	ENST00000446620	T	0.37584	1.19	4.62	1.55	0.23275	.	.	.	.	.	T	0.35451	0.0932	L	0.55481	1.735	0.21064	N	0.999792	P	0.39883	0.693	B	0.41619	0.361	T	0.15292	-1.0442	9	0.27785	T	0.31	.	12.1023	0.53792	0.0:0.0:0.3507:0.6493	.	275	P59534	T2R39_HUMAN	T	275	ENSP00000405095:A275T	ENSP00000405095:A275T	A	+	1	0	TAS2R39	142591456	0.450000	0.25697	0.353000	0.25747	0.529000	0.34654	1.145000	0.31577	0.656000	0.30886	0.650000	0.86243	GCA	.	.	none		0.488	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		A	142881334	G	A	142881334	3	1	38	1	0	0	0	0	1	0	0	0	15573	1319	46	2	825	2	TAS2R39	7	142881334	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5788615	142881334	16257329	88	23862										
LRRC61	65999	hgsc.bcm.edu	37	chr7	150034703	150034703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gagcaggtactcagctctgcGggccccacctcttccttcgt	10	16	3	0	rs149223172	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:150034703G>A	ENST00000359623.4	+	3	1341	c.753G>A	c.(751-753)gcG>gcA	p.A251A	LRRC61_ENST00000323078.7_Silent_p.A251A|LRRC61_ENST00000493307.1_Silent_p.A251A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	251										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGCTCTGCGGGCCCCACCT	0.682													G|||	12	0.00239617	0.0	0.0014	5008	,	,		17182	0.0		0.001	False		,,,				2504	0.0102				p.A251A		Atlas-SNP	.											.	LRRC61	17	.	0			c.G753A						PASS	.	G	,	0,4224		0,0,2112	15	15	15		753,753	-7.9	0	7	dbSNP_134	15	18,8284		0,18,4133	no	coding-synonymous,coding-synonymous	LRRC61	NM_001142928.1,NM_023942.2	,	0,18,6245	AA,AG,GG		0.2168,0.0,0.1437	,	251/260,251/260	150034703	18,12508	2112	4151	6263	SO:0001819	synonymous_variant	65999	exon2			CTCTGCGGGCCCC	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.753G>A	7.37:g.150034703G>A		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	33	16	0.484848	NM_023942	B3KUW0|D3DWY8	Silent	SNP	ENST00000359623.4	37	CCDS5901.1																																																																																			G|0.998;A|0.002	0.002	strong		0.682	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		A	150034703	G	A	150034703	2	1	38	1	0	0	0	0	0	0	0	1	9017	1103	39	1		1	LRRC61	7	150034703	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	7153369	150034703	9103960	89	23863										
PTPRN2	5799	hgsc.bcm.edu	37	chr7	157931091	157931091	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcgagctactccatggtccaCgccttgcatcaggccagcca	9	16	1	0	rs3752368	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr7:157931091C>G	ENST00000389418.4	-	7	1036	c.1027G>C	c.(1027-1029)Gtg>Ctg	p.V343L	PTPRN2_ENST00000389416.4_Missense_Mutation_p.V326L|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V305L|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V366L|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V343L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	343			V -> M (in dbSNP:rs3752368).		negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCATGGTCCACGCCTTGCATC	0.667																																					p.V343L		Atlas-SNP	.											.	PTPRN2	243	.	0			c.G1027C						PASS	.						68	70	69					7																	157931091		2203	4300	6503	SO:0001583	missense	5799	exon7			GGTCCACGCCTTG	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1027G>C	7.37:g.157931091C>G	ENSP00000374069:p.Val343Leu	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	41	28	0.682927	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956399	0.18507	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03124	4.04;4.04;4.05;4.05;4.04	4.15	2.14	0.27477	.	5.222610	0.01476	N	0.016495	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.18741	0.03;0.007;0.012;0.007;0.007	B;B;B;B;B	0.16289	0.015;0.007;0.015;0.007;0.007	T	0.46162	-0.9211	10	0.17369	T	0.5	.	9.3148	0.37928	0.1426:0.7662:0.0:0.0912	.	366;305;343;326;343	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	L	305;343;326;343;366	ENSP00000387114:V305L;ENSP00000374064:V343L;ENSP00000374067:V326L;ENSP00000374069:V343L;ENSP00000385464:V366L	ENSP00000374064:V343L	V	-	1	0	PTPRN2	157623852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.799000	0.27028	0.316000	0.23135	-0.797000	0.03246	GTG	C|0.987;T|0.013	.	alt		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			G	157931091	C	G	157931091	3	3	38	1	0	0	0	0	1	0	0	0	12808	536	19	4	2088	4	PTPRN2	7	157931091	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	7896388	157931091	1207572	90	23864										
DLGAP2	9228	hgsc.bcm.edu	37	chr8	1624701	1624701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgttctctgttgaattaggtGgaaacggccacagattctga	11	8	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:1624701G>A	ENST00000421627.2	+	8	2099	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	734					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAATTAGGTGGAAACGGCCA	0.493																																					p.V655V		Atlas-SNP	.											.	DLGAP2	292	.	0			c.G1965A						PASS	.						32	35	34					8																	1624701		1887	4107	5994	SO:0001819	synonymous_variant	9228	exon8			TTAGGTGGAAACG	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1965G>A	8.37:g.1624701G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	91	37	0.406593	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939412	0.18281	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.51	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.356	13.4157	0.60968	0.0769:0.0:0.9231:0.0	.	.	.	.	X	658	.	.	W	+	2	0	DLGAP2	1612108	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	4.906000	0.63293	1.292000	0.44672	0.563000	0.77884	TGG	.	.	none		0.493	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1624701	G	A	1624701	2	1	38	1	0	0	0	0	0	0	0	1	4560	1335	47	2		2	DLGAP2	8	1624701	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		1624701	144739321	91	23865										
FAM86B1	85002	hgsc.bcm.edu	37	chr8	12044264	12044264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttctgcaaggtagagggcggCatcccatgtgaccaggcctg	14	11	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:12044264C>T	ENST00000448228.2	-	4	368	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	FAM86B1_ENST00000321602.8_Start_Codon_SNP_p.M1I|FAM86B1_ENST00000533852.2_Missense_Mutation_p.A141T|FAM86B1_ENST00000534520.1_Missense_Mutation_p.A107T|FAM86B1_ENST00000533513.1_Missense_Mutation_p.A141T	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	107										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TAGAGGGCGGCATCCCATGTG	0.612																																					p.A107T		Atlas-SNP	.											FAM86B1,NS,carcinoma,+2,1	FAM86B1	7	1	0			c.G319A						scavenged	.						1	1	1					8																	12044264		461	1070	1531	SO:0001583	missense	85002	exon4			GGGCGGCATCCCA	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.319G>A	8.37:g.12044264C>T	ENSP00000407067:p.Ala107Thr	Somatic	238	27	0.113445		WXS	Illumina HiSeq	Phase_I	236	11	0.0466102	NM_001083537		Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.97|11.97	1.796969|1.796969	0.31777|0.31777	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000431227;ENST00000340537;ENST00000448228;ENST00000534520;ENST00000526708;ENST00000524571;ENST00000533513|ENST00000321602;ENST00000526802	T;T;T;T;T|T	0.36340|0.24350	1.26;2.52;1.26;1.56;4.06|1.86	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	10.022600|.	0.01570|.	U|.	0.020538|.	T|T	0.33731|0.33731	0.0873|0.0873	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	P;P|B;B	0.46457|0.15719	0.878;0.749|0.014;0.003	D;P|B;B	0.64144|0.08055	0.922;0.624|0.003;0.002	T|T	0.42050|0.42050	-0.9474|-0.9474	10|9	0.72032|0.87932	D|D	0.01|0	.|.	8.2654|8.2654	0.31810|0.31810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107;141|1;38	Q8N7N1;E9PN63|F6QN85;Q4KMP3	F86B1_HUMAN;.|.;.	T|I	141;107;107;107;141;79;141|1;102	ENSP00000342610:A107T;ENSP00000407067:A107T;ENSP00000431362:A107T;ENSP00000432790:A79T;ENSP00000435201:A141T|ENSP00000439686:M1I	ENSP00000342610:A107T|ENSP00000439686:M1I	A|M	-|-	1|3	0|0	FAM86B1|FAM86B1	12081673|12081673	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.049000|0.049000	0.14656|0.14656	6.283000|6.283000	0.72646|0.72646	0.950000|0.950000	0.37743|0.37743	0.173000|0.173000	0.16961|0.16961	GCC|ATG	.	.	none		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		T	12044264	C	T	12044264	3	4	38	1	0	0	0	0	1	0	0	0	5644	710	25	2	587	2	FAM86B1	8	12044264	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	10419563	12044264	134319758	92	23866										
NEFL	4747	hgsc.bcm.edu	37	chr8	24813640	24813640	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcccggaagcgggatggctcGgagtgcttctggcgcagcac	17	12	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:24813640G>A	ENST00000221169.5	-	0	984				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGGATGGCTCGGAGTGCTTCT	0.662																																					p.S130S		Atlas-SNP	.											.	NEFL	47	.	0			c.C390T						PASS	.						12	13	13					8																	24813640		2075	4213	6288			4747	exon1			TGGCTCGGAGTGC		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813640G>A		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	37	15	0.405405	NM_006158	B9ZVN2|Q16154|Q8IU72	Silent	SNP	ENST00000221169.5	37																																																																																				.	.	none		0.662	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813640	G	A	24813640	1	1	38	0	1	0	0	0	0	0	0	0	10315	1103	39	1		1	NEFL	8	24813640	RNA	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	12769376	24813640	121550382	93	23867										
ANK1	286	hgsc.bcm.edu	37	chr8	41577226	41577226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tttatccagaaggaccttagCcaccctgtggtgtccacagt	9	12	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:41577226C>T	ENST00000347528.4	-	10	1143	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	ANK1_ENST00000396945.1_Missense_Mutation_p.A354T|ANK1_ENST00000352337.4_Missense_Mutation_p.A354T|ANK1_ENST00000396942.1_Missense_Mutation_p.A354T|ANK1_ENST00000379758.2_Missense_Mutation_p.A354T|ANK1_ENST00000289734.7_Missense_Mutation_p.A354T|ANK1_ENST00000265709.8_Missense_Mutation_p.A387T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	354	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTAGCCACCCTGTGG	0.622																																					p.A387T		Atlas-SNP	.											.	ANK1	497	.	0			c.G1159A						PASS	.						196	180	186					8																	41577226		2203	4300	6503	SO:0001583	missense	286	exon10			CCTTAGCCACCCT	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1060G>A	8.37:g.41577226C>T	ENSP00000339620:p.Ala354Thr	Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	68	38	0.558824	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470456	0.84533	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.76	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.107603	0.64402	D	0.000006	T	0.67496	0.2899	L	0.31845	0.965	0.80722	D	1	D;D;P;D;D	0.67145	0.996;0.982;0.794;0.994;0.996	D;P;B;P;D	0.70016	0.967;0.883;0.363;0.837;0.967	T	0.63211	-0.6688	10	0.20046	T	0.44	.	14.6541	0.68820	0.0:0.9304:0.0:0.0696	.	387;354;354;354;354	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	354;354;354;354;354;354;387;354	ENSP00000339620:A354T;ENSP00000289734:A354T;ENSP00000369082:A354T;ENSP00000380149:A354T;ENSP00000380147:A354T;ENSP00000309131:A354T;ENSP00000265709:A387T	ENSP00000265709:A387T	A	-	1	0	ANK1	41696383	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.086000	0.71352	1.460000	0.47911	0.555000	0.69702	GCT	.	.	none		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41577226	C	T	41577226	3	4	38	1	0	0	0	0	1	0	0	0	620	739	26	2	5071	2	ANK1	8	41577226	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	16763586	41577226	104786796	94	23868										
PXDNL	137902	hgsc.bcm.edu	37	chr8	52321593	52321593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggcacacgcggggctggagCgcgcgaagagcatgcagggc	19	11	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:52321593C>T	ENST00000356297.4	-	17	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63L(1)|p.R864L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGGCTGGAGCGCGCGAAGAG	0.662																																					p.R864H		Atlas-SNP	.											PXDNL_ENST00000356297,colon,carcinoma,-1,3	PXDNL	414	3	2	Substitution - Missense(2)	lung(2)	c.G2591A						PASS	.						23	27	25					8																	52321593		2024	4155	6179	SO:0001583	missense	137902	exon17			CTGGAGCGCGCGA		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2591G>A	8.37:g.52321593C>T	ENSP00000348645:p.Arg864His	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	54	24	0.444444	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420939	0.42918	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84660	-1.88;-1.88	3.31	2.41	0.29592	.	0.272281	0.26156	N	0.026002	D	0.94991	0.8379	H	0.99286	4.5	0.35901	D	0.830399	D	0.89917	1.0	D	0.87578	0.998	D	0.95258	0.8366	10	0.87932	D	0	.	9.6539	0.39914	0.2105:0.7895:0.0:0.0	.	864	A1KZ92	PXDNL_HUMAN	H	864	ENSP00000348645:R864H;ENSP00000444865:R864H	ENSP00000348645:R864H	R	-	2	0	PXDNL	52484146	1.000000	0.71417	0.249000	0.24280	0.019000	0.09904	5.019000	0.64060	0.487000	0.27698	0.650000	0.86243	CGC	.	.	none		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52321593	C	T	52321593	3	4	38	1	0	0	0	0	1	0	0	0	12848	768	27	1	1828	1	PXDNL	8	52321593	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	10744367	52321593	94042429	95	23869										
PCMTD1	115294	hgsc.bcm.edu	37	chr8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	7	7	3	1	rs200377849		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTTATGAAATTTCTAAGTG	0.388																																					p.N257K		Atlas-SNP	.											PCMTD1,trunk,malignant_melanoma,0,1	PCMTD1	73	1	1	Substitution - Missense(1)	skin(1)	c.T771G						scavenged	.						78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294	exon6			TATGAAATTTCTA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys	Somatic	221	2	0.00904977		WXS	Illumina HiSeq	Phase_I	180	5	0.0277778	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT	.	.	weak		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	38	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	411621	52733214	93630808	96	23870										
RPS20	6224	hgsc.bcm.edu	37	chr8	56985814	56985814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcaccacaaggagtttttctTgtagtgattctcaaagtctg	8	8	4	1	rs1050403	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:56985814T>C	ENST00000521262.1	-	4	448	c.195A>G	c.(193-195)acA>acG	p.T65T	RPS20_ENST00000524349.1_Silent_p.T10T|RPS20_ENST00000520490.1_5'UTR|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000519807.1_Silent_p.T65T|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520627.1_Silent_p.T10T|RPS20_ENST00000519606.1_Missense_Mutation_p.K41E|RPS20_ENST00000009589.3_Silent_p.T65T			P60866	RS20_HUMAN	ribosomal protein S20	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			GAGTTTTTCTTGTAGTGATTC	0.373													T|||	446	0.0890575	0.0234	0.1571	5008	,	,		21606	0.002		0.2266	False		,,,				2504	0.0777				p.T65T		Atlas-SNP	.											.	RPS20	16	.	0			c.A195G						PASS	.	T	,	201,3951		4,193,1879	83	87	86		195,195	-10.2	0.8	8	dbSNP_86	86	1752,6150		194,1364,2393	no	coding-synonymous,coding-synonymous	RPS20	NM_001023.3,NM_001146227.1	,	198,1557,4272	CC,CT,TT		22.1716,4.841,16.2021	,	65/120,65/143	56985814	1953,10101	2076	3951	6027	SO:0001819	synonymous_variant	6224	exon4			TTTTCTTGTAGTG	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.195A>G	8.37:g.56985814T>C		Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	10	7	0.7	NM_001146227	B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	ENST00000521262.1	37		241	0.11034798534798534	13	0.026422764227642278	69	0.19060773480662985	0	0.0	159	0.20976253298153033	T	11.86	1.764707	0.31228	0.04841	0.221716	ENSG00000008988	ENST00000519606	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.25984	-1.0116	4	0.87932	D	0	-25.2257	3.7165	0.08439	0.0927:0.2245:0.3814:0.3015	rs2976047;rs2976047	.	.	.	E	41	.	ENSP00000429333:K41E	K	-	1	0	RPS20	57148368	0.016000	0.18221	0.787000	0.31911	0.702000	0.40608	-0.858000	0.04281	-1.780000	0.01279	0.482000	0.46254	AAG	T|0.863;C|0.137	0.137	strong		0.373	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		C	56985814	T	C	56985814	2	2	38	1	0	0	0	0	0	0	0	1	13632	1799	63	2		2	RPS20	8	56985814	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	4252600	56985814	89378208	97	23871										
SLC7A13	157724	hgsc.bcm.edu	37	chr8	87235201	87235201	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttagccatttgcatacaaacCtgaagagagaatttccctgg	8	9	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:87235201C>A	ENST00000297524.3	-	2	920	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	SLC7A13_ENST00000419776.2_Splice_Site_p.D264Y|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	273						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCATACAAACCTGAAGAGAGA	0.373																																					p.D273Y		Atlas-SNP	.											.	SLC7A13	97	.	0			c.G817T						PASS	.						114	117	116					8																	87235201		2203	4300	6503	SO:0001630	splice_region_variant	157724	exon2			ACAAACCTGAAGA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.817+1G>T	8.37:g.87235201C>A		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	86	16	0.186047	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209895	0.58343	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90620	-2.7;-2.7	4.36	4.36	0.52297	Amino acid permease domain (1);	0.363429	0.26019	N	0.026835	D	0.95089	0.8409	M	0.83774	2.66	0.36861	D	0.888401	D;D	0.89917	0.989;1.0	D;D	0.79108	0.947;0.992	D	0.96707	0.9522	9	.	.	.	.	14.4409	0.67318	0.0:1.0:0.0:0.0	.	264;273	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	Y	273;264	ENSP00000297524:D273Y;ENSP00000410982:D264Y	.	D	-	1	0	SLC7A13	87304317	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	3.140000	0.50585	2.266000	0.75297	0.650000	0.86243	GAT	.	.	none		0.373	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	Missense_Mutation	A	87235201	C	A	87235201	5	1	38	1	0	0	0	0	0	0	1	0	14695	695	24	4	607	4	SLC7A13	8	87235201	Splice_Site	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	30249387	87235201	59128821	98	23872										
CNGB3	54714	hgsc.bcm.edu	37	chr8	87638258	87638258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctgaagttcacatcaatggCgagggctaactggaccgtag	13	9	2	1	rs150642676	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:87638258C>A	ENST00000320005.5	-	13	1578	c.1531G>T	c.(1531-1533)Gcc>Tcc	p.A511S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	511					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACATCAATGGCGAGGGCTAAC	0.373																																					p.A511S		Atlas-SNP	.											.	CNGB3	176	.	0			c.G1531T						PASS	.						123	112	115					8																	87638258		2203	4300	6503	SO:0001583	missense	54714	exon13			CAATGGCGAGGGC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1531G>T	8.37:g.87638258C>A	ENSP00000316605:p.Ala511Ser	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	98	17	0.173469	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346934	0.61183	.	.	ENSG00000170289	ENST00000320005	D	0.96745	-4.11	5.37	2.47	0.30058	Cyclic nucleotide-binding-like (1);	0.202097	0.41194	D	0.000925	D	0.98204	0.9406	M	0.92268	3.29	0.80722	D	1	D;D	0.59357	0.985;0.975	D;P	0.63597	0.916;0.826	D	0.98338	1.0537	10	0.72032	D	0.01	.	14.4978	0.67700	0.0:0.9177:0.0:0.0823	.	511;511	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	S	511	ENSP00000316605:A511S	ENSP00000316605:A511S	A	-	1	0	CNGB3	87707374	0.999000	0.42202	0.003000	0.11579	0.482000	0.33219	3.118000	0.50414	0.198000	0.20407	0.650000	0.86243	GCC	C|0.999;T|0.001	.	alt		0.373	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		A	87638258	C	A	87638258	3	1	38	1	0	0	0	0	1	0	0	0	3601	768	27	4	922	4	CNGB3	8	87638258	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	403057	87638258	58725764	99	23873										
VPS13B	157680	hgsc.bcm.edu	37	chr8	100829995	100829995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggtcaagagatgtgtgcctGgaatccaaagcccctgagta	12	9	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:100829995G>A	ENST00000358544.2	+	45	8511	c.8400G>A	c.(8398-8400)ctG>ctA	p.L2800L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L2775L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2800					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGTGTGCCTGGAATCCAAAG	0.413																																					p.L2800L	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.G8400A						PASS	.						139	130	133					8																	100829995		2203	4300	6503	SO:0001819	synonymous_variant	157680	exon45			GTGCCTGGAATCC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8400G>A	8.37:g.100829995G>A		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	90	21	0.233333	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																			.	.	none		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100829995	G	A	100829995	2	1	38	1	0	0	0	0	0	0	0	1	17187	1335	47	2		2	VPS13B	8	100829995	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	13191737	100829995	45534027	100	23874										
RGS22	26166	hgsc.bcm.edu	37	chr8	101016183	101016183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgagtctcaagaaactgacgGaaatgttcaaactccagttt	8	8	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:101016183G>T	ENST00000360863.6	-	17	2792	c.2598C>A	c.(2596-2598)ttC>ttA	p.F866L	RGS22_ENST00000523287.1_Missense_Mutation_p.F685L|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.F854L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	866	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)			GAAACTGACGGAAATGTTCAA	0.333																																					p.F866L		Atlas-SNP	.											.	RGS22	319	.	0			c.C2598A						PASS	.						132	122	125					8																	101016183		1850	4091	5941	SO:0001583	missense	26166	exon17			CTGACGGAAATGT	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.2598C>A	8.37:g.101016183G>T	ENSP00000354109:p.Phe866Leu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	91	12	0.131868	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749832	0.69533	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.49	0.68	0.17980	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.62723	1.935	0.33255	D	0.558978	D;D;P	0.76494	0.999;0.999;0.734	D;D;B	0.83275	0.996;0.996;0.391	T	0.73538	-0.3951	10	0.40728	T	0.16	.	9.3926	0.38383	0.358:0.0:0.642:0.0	.	854;866;685	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	866;854;685;854;181	ENSP00000354109:F866L;ENSP00000429382:F685L;ENSP00000428212:F854L;ENSP00000427754:F181L	ENSP00000354109:F866L	F	-	3	2	RGS22	101085359	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	0.755000	0.26405	-0.163000	0.10946	0.655000	0.94253	TTC	.	.	none		0.333	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		T	101016183	G	T	101016183	3	4	38	1	0	0	0	0	1	0	0	0	13305	1165	41	4	1240	4	RGS22	8	101016183	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	186188	101016183	45347839	101	23875										
EXT1	2131	hgsc.bcm.edu	37	chr8	118830723	118830723	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcacagcagtggcaggccagCggtgtttggctggtaggggc	19	9	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:118830723C>G	ENST00000378204.2	-	7	2389	c.1583G>C	c.(1582-1584)cGc>cCc	p.R528P		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	528					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGCAGGCCAGCGGTGTTTGGC	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.R528P		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	EXT1	98	.	0			c.G1583C						PASS	.						131	131	131					8																	118830723		2203	4300	6503	SO:0001583	missense	2131	exon7	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	GGCCAGCGGTGTT	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1583G>C	8.37:g.118830723C>G	ENSP00000367446:p.Arg528Pro	Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	56	15	0.267857	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	c	32	5.188410	0.94923	.	.	ENSG00000182197	ENST00000378204	T	0.77750	-1.12	5.44	5.44	0.79542	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.82517	2.595	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	D	0.88651	0.3182	10	0.48119	T	0.1	1.1966	19.6267	0.95680	0.0:1.0:0.0:0.0	.	528	Q16394	EXT1_HUMAN	P	528	ENSP00000367446:R528P	ENSP00000367446:R528P	R	-	2	0	EXT1	118899904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.712000	0.92718	0.563000	0.77884	CGC	.	.	none		0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		G	118830723	C	G	118830723	3	3	38	1	0	0	0	0	1	0	0	0	5323	768	27	4	677	4	EXT1	8	118830723	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	17814540	118830723	27533299	102	23876										
WISP1	8840	hgsc.bcm.edu	37	chr8	134225357	134225357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctgtgactacagcggggaccGcccgaggtacgcaataggag	15	11	0	1	rs536884015		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:134225357G>A	ENST00000250160.6	+	2	426	c.320G>A	c.(319-321)cGc>cAc	p.R107H	WISP1_ENST00000517423.1_Missense_Mutation_p.R107H|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.R107H	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	107	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGCGGGGACCGCCCGAGGTAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		15051	0.0		0.0	False		,,,				2504	0.001				p.R107H		Atlas-SNP	.											.	WISP1	64	.	0			c.G320A						PASS	.						63	62	62					8																	134225357		2203	4300	6503	SO:0001583	missense	8840	exon2			GGGACCGCCCGAG	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.320G>A	8.37:g.134225357G>A	ENSP00000250160:p.Arg107His	Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	104	18	0.173077	NM_003882	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886789	0.51908	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.63417	-0.04;-0.04;-0.04	5.27	3.36	0.38483	Insulin-like growth factor-binding protein, IGFBP (2);	0.480222	0.24615	N	0.037015	T	0.71333	0.3327	L	0.59436	1.845	0.80722	D	1	B;D;B	0.89917	0.01;1.0;0.018	B;D;B	0.71870	0.003;0.975;0.002	T	0.70004	-0.4991	10	0.44086	T	0.13	-31.2725	9.5448	0.39273	0.0784:0.1429:0.7787:0.0	.	107;107;107	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	H	107	ENSP00000250160:R107H;ENSP00000427744:R107H;ENSP00000220856:R107H	ENSP00000220856:R107H	R	+	2	0	WISP1	134294539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.732000	0.62029	1.221000	0.43506	0.542000	0.68232	CGC	.	.	none		0.617	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		A	134225357	G	A	134225357	3	1	38	1	0	0	0	0	1	0	0	0	17369	1087	38	1	326	1	WISP1	8	134225357	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	15394634	134225357	12138665	103	23877										
PLEC	5339	hgsc.bcm.edu	37	chr8	144994192	144994192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gacgcaacagctcctgccgcTgctccgcagtgaagtactca	10	15	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:144994192T>C	ENST00000322810.4	-	32	10377	c.10208A>G	c.(10207-10209)cAg>cGg	p.Q3403R	PLEC_ENST00000354958.2_Missense_Mutation_p.Q3244R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3270R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3266R|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3252R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3234R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3293R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3289R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3266R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3403	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCTGCCGCTGCTCCGCAGT	0.597																																					p.Q3403R		Atlas-SNP	.											.	PLEC	1144	.	0			c.A10208G						PASS	.						57	65	62					8																	144994192		2176	4269	6445	SO:0001583	missense	5339	exon32			TGCCGCTGCTCCG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10208A>G	8.37:g.144994192T>C	ENSP00000323856:p.Gln3403Arg	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	58	12	0.206897	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	7.769	0.707022	0.15239	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76709	-1.01;-1.01;-1.04;-1.04;-1.02;-1.01;-1.01;-1.01;-1.01	4.76	1.01	0.19927	.	0.000000	0.64402	U	0.000010	T	0.63367	0.2505	L	0.41356	1.27	0.42614	D	0.993327	B;B;B;B;B;B;B;B	0.12630	0.005;0.005;0.005;0.006;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.53851	-0.8380	10	0.48119	T	0.1	.	4.852	0.13542	0.1389:0.1579:0.0:0.7033	.	3293;3252;3244;3403;3234;3266;3270;3266	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	3266;3270;3266;3234;3403;3244;3252;3293;3289	ENSP00000344848:Q3266R;ENSP00000350277:Q3270R;ENSP00000346602:Q3266R;ENSP00000381756:Q3234R;ENSP00000323856:Q3403R;ENSP00000347044:Q3244R;ENSP00000348702:Q3252R;ENSP00000388180:Q3293R;ENSP00000434583:Q3289R	ENSP00000323856:Q3403R	Q	-	2	0	PLEC	145066180	1.000000	0.71417	0.988000	0.46212	0.551000	0.35334	4.721000	0.61951	0.252000	0.21531	0.368000	0.22195	CAG	.	.	none		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		C	144994192	T	C	144994192	3	2	38	1	0	0	0	0	1	0	0	0	12052	1580	55	3	3850	3	PLEC	8	144994192	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	10768835	144994192	1369830	104	23878										
PLEC	5339	hgsc.bcm.edu	37	chr8	145010055	145010055	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cattgaagaggcggccgtctCtccagctggaggtgaagttg	15	9	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr8:145010055C>T	ENST00000322810.4	-	6	1143	c.974G>A	c.(973-975)aGa>aAa	p.R325K	PLEC_ENST00000354958.2_Missense_Mutation_p.R166K|PLEC_ENST00000357649.2_Missense_Mutation_p.R192K|PLEC_ENST00000354589.3_Missense_Mutation_p.R188K|PLEC_ENST00000356346.3_Missense_Mutation_p.R174K|PLEC_ENST00000398774.2_Missense_Mutation_p.R156K|PLEC_ENST00000436759.2_Missense_Mutation_p.R215K|PLEC_ENST00000527096.1_Missense_Mutation_p.R215K|PLEC_ENST00000345136.3_Missense_Mutation_p.R188K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	325	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGCCGTCTCTCCAGCTGGA	0.657																																					p.R325K		Atlas-SNP	.											.	PLEC	1144	.	0			c.G974A						PASS	.						53	65	61					8																	145010055		2088	4210	6298	SO:0001583	missense	5339	exon6			CCGTCTCTCCAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.974G>A	8.37:g.145010055C>T	ENSP00000323856:p.Arg325Lys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	68	13	0.191176	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721462	0.68959	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416	D;D;D;D;D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	4.39	4.39	0.52855	Calponin homology domain (5);	0.000000	0.64402	U	0.000012	D	0.94850	0.8336	L	0.35249	1.045	0.53688	D	0.99997	D;P;P;D;P;P;D;D	0.56968	0.971;0.949;0.949;0.958;0.949;0.949;0.978;0.978	D;D;D;D;D;D;D;D	0.69307	0.963;0.927;0.927;0.957;0.927;0.927;0.946;0.946	D	0.95054	0.8189	10	0.52906	T	0.07	.	14.4611	0.67450	0.0:1.0:0.0:0.0	.	215;174;166;325;156;188;192;188	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	188;192;188;156;325;166;174;215;215;232;165	ENSP00000344848:R188K;ENSP00000350277:R192K;ENSP00000346602:R188K;ENSP00000381756:R156K;ENSP00000323856:R325K;ENSP00000347044:R166K;ENSP00000348702:R174K;ENSP00000388180:R215K;ENSP00000434583:R215K;ENSP00000437303:R232K;ENSP00000433557:R165K	ENSP00000323856:R325K	R	-	2	0	PLEC	145082043	1.000000	0.71417	0.909000	0.35828	0.884000	0.51177	4.835000	0.62781	1.995000	0.58328	0.462000	0.41574	AGA	.	.	none		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145010055	C	T	145010055	3	4	38	1	0	0	0	0	1	0	0	0	12052	913	32	2	13188	2	PLEC	8	145010055	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	15863	145010055	1353967	105	23879										
CNTLN	54875	hgsc.bcm.edu	37	chr9	17135258	17135258	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggtgaagaagggtcagggggCcggcgagggcctgggggggc	25	7	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:17135258C>A	ENST00000380647.3	+	1	279	c.195C>A	c.(193-195)ggC>ggA	p.G65G	CNTLN_ENST00000262360.5_Silent_p.G65G|CNTLN_ENST00000425824.1_Silent_p.G65G|CNTLN_ENST00000380641.4_Silent_p.G65G|CNTLN_ENST00000484374.1_3'UTR			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	65					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGTCAGGGGGCCGGCGAGGGC	0.682																																					p.G65G		Atlas-SNP	.											.	CNTLN	128	.	0			c.C195A						PASS	.						12	17	16					9																	17135258		1913	4098	6011	SO:0001819	synonymous_variant	54875	exon1			AGGGGGCCGGCGA	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.195C>A	9.37:g.17135258C>A		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	83	25	0.301205	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	CCDS43789.1																																																																																			.	.	none		0.682	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17135258	C	A	17135258	2	1	38	1	0	0	0	0	0	0	0	1	3639	726	26	4		4	CNTLN	9	17135258	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		17135258	124078173	106	23880										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73461506	73461506	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tatcaaaagatactcgcacaTactggaagaagaaaggacat	8	7	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:73461506T>C	ENST00000377111.2	-	4	707	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	TRPM3_ENST00000396292.4_Splice_Site_p.Y2C|TRPM3_ENST00000357533.2_Splice_Site_p.Y157C|TRPM3_ENST00000377097.3_Splice_Site_p.Y2C|TRPM3_ENST00000408909.2_Splice_Site_p.Y2C|TRPM3_ENST00000358082.3_Splice_Site_p.Y2C|TRPM3_ENST00000396283.1_Splice_Site_p.Y2C|TRPM3_ENST00000396285.1_Splice_Site_p.Y2C|TRPM3_ENST00000361823.5_Splice_Site_p.Y2C|TRPM3_ENST00000423814.3_Splice_Site_p.Y157C|TRPM3_ENST00000396280.5_Splice_Site_p.Y2C|TRPM3_ENST00000377106.1_Splice_Site_p.Y2C|TRPM3_ENST00000377101.1_Splice_Site_p.Y2C|TRPM3_ENST00000377110.3_Splice_Site_p.Y155C|TRPM3_ENST00000360823.2_Splice_Site_p.Y2C|TRPM3_ENST00000377105.1_Splice_Site_p.Y2C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	155					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TACTCGCACATACTGGAAGAA	0.433																																					p.Y155C		Atlas-SNP	.											.	TRPM3	700	.	0			c.A464G						PASS	.						64	59	60					9																	73461506		2203	4300	6503	SO:0001630	splice_region_variant	80036	exon4			CGCACATACTGGA	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.463-1A>G	9.37:g.73461506T>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	79	58	0.734177	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.276497|4.276497	0.80580|0.80580	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86234|0.86234	0.5884|0.5884	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	.|D;D;D;D;D;D;D;D;D	.|0.85130	.|0.954;0.981;0.996;0.996;0.992;0.997;0.994;0.995;0.997	D|D	0.89433|0.89433	0.3718|0.3718	5|10	.|0.87932	.|D	.|0	-6.475|-6.475	16.5285|16.5285	0.84344|0.84344	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|155;157;2;155;155;155;157;2;2	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.	V|C	45|155;155;2;2;2;157;2;2;2;2;157;2;2;2;2	.|ENSP00000366315:Y155C;ENSP00000366314:Y155C;ENSP00000366310:Y2C;ENSP00000354066:Y2C;ENSP00000366309:Y2C;ENSP00000350140:Y157C;ENSP00000386127:Y2C;ENSP00000379581:Y2C;ENSP00000379587:Y2C;ENSP00000350791:Y2C;ENSP00000389542:Y157C;ENSP00000366305:Y2C;ENSP00000379579:Y2C;ENSP00000355395:Y2C	.|ENSP00000350140:Y157C	M|Y	-|-	1|2	0|0	TRPM3|TRPM3	72651326|72651326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	7.960000|7.960000	0.87893|0.87893	2.307000|2.307000	0.77673|0.77673	0.528000|0.528000	0.53228|0.53228	ATG|TAT	.	.	none		0.433	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Missense_Mutation	C	73461506	T	C	73461506	5	2	38	1	0	0	0	0	0	0	1	0	16584	1420	49	2	4870	2	TRPM3	9	73461506	Splice_Site	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	56326248	73461506	67751925	107	23881										
TRPM3	80036	hgsc.bcm.edu	37	chr9	73477848	73477848	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctttgttggaatggccaccTccttggaactcaatggtccc	10	12	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:73477848T>A	ENST00000377111.2	-	3	681	c.438A>T	c.(436-438)ggA>ggT	p.G146G	TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000357533.2_Silent_p.G148G|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000423814.3_Silent_p.G148G|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377110.3_Silent_p.G146G|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377105.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	146					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AATGGCCACCTCCTTGGAACT	0.488																																					p.G146G		Atlas-SNP	.											TRPM3_ENST00000423814,NS,carcinoma,-2,2	TRPM3	700	2	0			c.A438T						PASS	.						210	198	202					9																	73477848		2203	4300	6503	SO:0001819	synonymous_variant	80036	exon3			GCCACCTCCTTGG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.438A>T	9.37:g.73477848T>A		Somatic	254	0	0		WXS	Illumina HiSeq	Phase_I	181	123	0.679558	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	T	11.19	1.566901	0.28003	.	.	ENSG00000083067	ENST00000377097	.	.	.	5.95	3.44	0.39384	.	.	.	.	.	T	0.60431	0.2268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57165	-0.7858	4	.	.	.	-14.1673	10.6299	0.45530	0.3559:0.0:0.0:0.6441	.	.	.	.	V	36	.	.	E	-	2	0	TRPM3	72667668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.519000	0.35888	1.034000	0.39945	0.533000	0.62120	GAG	.	.	none		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73477848	T	A	73477848	2	1	38	1	0	0	0	0	0	0	0	1	16584	1538	54	5		5	TRPM3	9	73477848	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	16342	73477848	67735583	108	23882										
C9orf41	138199	hgsc.bcm.edu	37	chr9	77614780	77614780	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	accagaatatttactttagaAggatccctgaaatgaaataa	6	6	0	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:77614780A>G	ENST00000376834.3	-	4	749	c.597T>C	c.(595-597)ccT>ccC	p.P199P	C9orf41_ENST00000376837.3_Intron	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	199										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTACTTTAGAAGGATCCCTGA	0.368																																					p.P199P		Atlas-SNP	.											.	C9orf41	57	.	0			c.T597C						PASS	.						83	83	83					9																	77614780		2203	4300	6503	SO:0001819	synonymous_variant	138199	exon4			TTTAGAAGGATCC	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.597T>C	9.37:g.77614780A>G		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	108	32	0.296296	NM_152420	Q7Z383|Q8N7C5	Silent	SNP	ENST00000376834.3	37	CCDS6649.1																																																																																			.	.	none		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		G	77614780	A	G	77614780	2	3	38	1	0	0	0	0	0	0	0	1	2482	59	3	3		3	C9orf41	9	77614780	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	4136932	77614780	63598651	109	23883										
UBQLN1	29979	hgsc.bcm.edu	37	chr9	86322427	86322427	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggcctcacctgctggacggaGctattctcgggcacggcgaa	14	13	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:86322427G>C	ENST00000376395.4	-	1	691	c.168C>G	c.(166-168)agC>agG	p.S56R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S56R|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	56	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCTGGACGGAGCTATTCTCGG	0.692																																					p.S56R	Melanoma(186;1284 2073 12755 14558 18426)	Atlas-SNP	.											.	UBQLN1	49	.	0			c.C168G						PASS	.						21	22	21					9																	86322427		2201	4298	6499	SO:0001583	missense	29979	exon1			GACGGAGCTATTC	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.168C>G	9.37:g.86322427G>C	ENSP00000365576:p.Ser56Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	79	12	0.151899	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833689	0.71258	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80123	-0.8;-0.8;-1.34	3.88	2.97	0.34412	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.64402	D	0.000001	D	0.84224	0.5425	L	0.51853	1.615	0.46586	D	0.999117	D;D	0.76494	0.993;0.999	D;D	0.79108	0.949;0.992	T	0.83041	-0.0157	10	0.54805	T	0.06	.	8.8201	0.35020	0.1097:0.0:0.8903:0.0	.	56;56	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	R	56;56;30	ENSP00000365576:S56R;ENSP00000257468:S56R;ENSP00000434194:S30R	ENSP00000257468:S56R	S	-	3	2	UBQLN1	85512247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.822000	0.48073	0.956000	0.37904	0.561000	0.74099	AGC	.	.	none		0.692	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		C	86322427	G	C	86322427	3	2	38	1	0	0	0	0	1	0	0	0	16893	962	34	4	1645	4	UBQLN1	9	86322427	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	8707647	86322427	54891004	110	23884										
ANKS6	203286	hgsc.bcm.edu	37	chr9	101498863	101498863	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actgctctcaaaggaagagtGaaagttgtgaatggtttcct	11	6	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:101498863G>A	ENST00000353234.4	-	15	2601	c.2554C>T	c.(2554-2556)Cac>Tac	p.H852Y	ANKS6_ENST00000375018.1_Missense_Mutation_p.H853Y|ANKS6_ENST00000540940.1_Missense_Mutation_p.H657Y|ANKS6_ENST00000375019.2_Missense_Mutation_p.H551Y			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	852						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AAGGAAGAGTGAAAGTTGTGA	0.483																																					p.H852Y		Atlas-SNP	.											.	ANKS6	59	.	0			c.C2554T						PASS	.						84	87	86					9																	101498863		1936	4135	6071	SO:0001583	missense	203286	exon15			AAGAGTGAAAGTT	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2554C>T	9.37:g.101498863G>A	ENSP00000297837:p.His852Tyr	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	102	28	0.27451	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.850167|4.850167	0.91277|0.91277	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.69435|.	1.78;-0.4;-0.4;2.03|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.049154|.	0.85682|.	D|.	0.000000|.	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.19112|0.19112	0.55|0.55	0.45439|0.45439	D|D	0.998416|0.998416	D;D|.	0.63880|.	0.993;0.988|.	D;D|.	0.73708|.	0.981;0.957|.	T|T	0.46512|0.46512	-0.9186|-0.9186	10|5	0.87932|.	D|.	0|.	-21.0365|-21.0365	16.8343|16.8343	0.85953|0.85953	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	853;852|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	Y|L	551;853;852;657|321	ENSP00000364159:H551Y;ENSP00000364158:H853Y;ENSP00000297837:H852Y;ENSP00000442189:H657Y|.	ENSP00000297837:H852Y|.	H|S	-|-	1|2	0|0	ANKS6|ANKS6	100538684|100538684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.692000|8.692000	0.91284|0.91284	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CAC|TCA	.	.	none		0.483	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		A	101498863	G	A	101498863	3	1	38	1	0	0	0	0	1	0	0	0	692	1290	45	2	65	2	ANKS6	9	101498863	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	15176436	101498863	39714568	111	23885										
OLFM1	10439	hgsc.bcm.edu	37	chr9	138011665	138011665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acgagagcgggctgtgggccGtgtacgccaccaaccagaac	14	13	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:138011665G>A	ENST00000371793.3	+	6	1350	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	OLFM1_ENST00000252854.4_Missense_Mutation_p.V349M|OLFM1_ENST00000371796.3_Missense_Mutation_p.V340M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCTGTGGGCCGTGTACGCCAC	0.627																																					p.V349M		Atlas-SNP	.											.	OLFM1	57	.	0			c.G1045A						PASS	.						77	60	66					9																	138011665		2203	4300	6503	SO:0001583	missense	10439	exon6			TGGGCCGTGTACG	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1099G>A	9.37:g.138011665G>A	ENSP00000360858:p.Val367Met	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	85	59	0.694118	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190584	0.78789	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90676	-2.71;-2.71;-2.71	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.061993	0.64402	D	0.000004	D	0.95089	0.8409	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.74348	0.874;0.983	D	0.95612	0.8673	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	367;349	Q99784;Q6IMJ8	NOE1_HUMAN;.	M	349;340;367	ENSP00000252854:V349M;ENSP00000360861:V340M;ENSP00000360858:V367M	ENSP00000252854:V349M	V	+	1	0	OLFM1	137151486	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GTG	.	.	none		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		A	138011665	G	A	138011665	3	1	38	1	0	0	0	0	1	0	0	0	10852	1145	40	1	1077	1	OLFM1	9	138011665	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	36512802	138011665	3201766	112	23886										
SOHLH1	402381	hgsc.bcm.edu	37	chr9	138590933	138590933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggcgggcccgagccccgggcCgagtcctcgcagcaggagag	18	15	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:138590933C>T	ENST00000298466.5	-	2	165	c.105G>A	c.(103-105)tcG>tcA	p.S35S	SOHLH1_ENST00000425225.1_Silent_p.S35S	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	35					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGCCCCGGGCCGAGTCCTCGC	0.701																																					p.S35S		Atlas-SNP	.											.	SOHLH1	70	.	0			c.G105A						PASS	.						12	14	13					9																	138590933		2184	4273	6457	SO:0001819	synonymous_variant	402381	exon2			CCGGGCCGAGTCC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.105G>A	9.37:g.138590933C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	52	38	0.730769	NM_001012415	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	CCDS35174.1																																																																																			.	.	none		0.701	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		T	138590933	C	T	138590933	2	4	38	1	0	0	0	0	0	0	0	1	14923	639	23	1		1	SOHLH1	9	138590933	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	579268	138590933	2622498	113	23887										
DPP7	29952	hgsc.bcm.edu	37	chr9	140009157	140009157	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aggaccggggcccagggagcGgagcccatgtcgccttccgc	16	15	0	0	rs557666825	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:140009157G>T	ENST00000371579.2	-	1	13	c.9C>A	c.(7-9)tcC>tcA	p.S3S		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	3						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)		CCCAGGGAGCGGAGCCCATGT	0.811													G|||	3	0.000599042	0.0	0.0	5008	,	,		6530	0.0		0.001	False		,,,				2504	0.002				p.S3S		Atlas-SNP	.											.	DPP7	22	.	0			c.C9A						PASS	.						1	1	1					9																	140009157		671	1474	2145	SO:0001819	synonymous_variant	29952	exon1			GGGAGCGGAGCCC	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.9C>A	9.37:g.140009157G>T		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_013379	A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	37	CCDS7030.1																																																																																			.	.	none		0.811	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		T	140009157	G	T	140009157	2	4	38	1	0	0	0	0	0	0	0	1	4731	1103	39	4		4	DPP7	9	140009157	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1418224	140009157	1204274	114	23888										
COBRA1	25920	hgsc.bcm.edu	37	chr9	140158730	140158730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggacgcctgcatccgagagCggttcgtggacagcaagagg	16	10	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr9:140158730C>T	ENST00000343053.4	+	6	1154	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	273					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATCCGAGAGCGGTTCGTGGA	0.657																																					p.R273W		Atlas-SNP	.											.	.	.	.	0			c.C817T						PASS	.						51	48	49					9																	140158730		2200	4299	6499	SO:0001583	missense	25920	exon6			CGAGAGCGGTTCG	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.817C>T	9.37:g.140158730C>T	ENSP00000339495:p.Arg273Trp	Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	33	10	0.30303	NM_015456	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917586	0.73098	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.85	2.75	0.32379	.	0.107079	0.64402	D	0.000008	T	0.55657	0.1934	L	0.38175	1.15	0.35791	D	0.822412	D	0.65815	0.995	P	0.59889	0.865	T	0.66232	-0.5975	9	0.87932	D	0	-52.3267	10.4259	0.44378	0.5916:0.4084:0.0:0.0	.	273	Q8WX92	NELFB_HUMAN	W	273	.	ENSP00000339495:R273W	R	+	1	2	COBRA1	139278551	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.438000	0.59961	1.001000	0.39076	0.313000	0.20887	CGG	.	.	none		0.657	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		T	140158730	C	T	140158730	3	4	38	1	0	0	0	0	1	0	0	0	3655	759	27	1	839	1	COBRA1	9	140158730	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	149573	140158730	1054701	115	23889										
ARHGAP21	57584	hgsc.bcm.edu	37	chr10	24880821	24880821	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gaagcatgaacttacgtgctGgatgagcgtttctacaatct	10	8	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:24880821G>A	ENST00000396432.2	-	22	4483	c.3997C>T	c.(3997-3999)Cag>Tag	p.Q1333*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.Q1120*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTACGTGCTGGATGAGCGTT	0.458																																					p.Q1333X		Atlas-SNP	.											.	ARHGAP21	185	.	0			c.C3997T						PASS	.						235	192	207					10																	24880821		2203	4300	6503	SO:0001587	stop_gained	57584	exon22			CGTGCTGGATGAG	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3997C>T	10.37:g.24880821G>A	ENSP00000379709:p.Gln1333*	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	72	9	0.125	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.326684|10.326684	0.99383|0.99383	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76586|.	0.4008|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76727|.	-0.2853|.	3|.	.|0.49607	.|T	.|0.09	.|.	19.294|19.294	0.94115|0.94115	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	146|1333;782;1120	.|.	.|ENSP00000365604:Q1120X	P|Q	-|-	2|1	0|0	ARHGAP21|ARHGAP21	24920827|24920827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	9.805000|9.805000	0.99149|0.99149	2.642000|2.642000	0.89623|0.89623	0.563000|0.563000	0.77884|0.77884	CCA|CAG	.	.	none		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		A	24880821	G	A	24880821	4	1	38	1	0	0	0	0	0	1	0	0	871	1357	47	2	1899	2	ARHGAP21	10	24880821	Nonsense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		24880821	110653926	116	23890										
GPR158	57512	hgsc.bcm.edu	37	chr10	25886831	25886831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttccatcatgagacgcattaCggagatcccagagacagtca	9	11	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:25886831C>A	ENST00000376351.3	+	11	2635	c.2276C>A	c.(2275-2277)aCg>aAg	p.T759K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	759					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T759K(1)|p.T759M(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACGCATTACGGAGATCCCA	0.527																																					p.T759K		Atlas-SNP	.											GPR158,NS,carcinoma,0,2	GPR158	255	2	2	Substitution - Missense(2)	lung(1)|pancreas(1)	c.C2276A						scavenged	.						102	114	110					10																	25886831		2203	4300	6503	SO:0001583	missense	57512	exon11			GCATTACGGAGAT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2276C>A	10.37:g.25886831C>A	ENSP00000365529:p.Thr759Lys	Somatic	145	1	0.00689655		WXS	Illumina HiSeq	Phase_I	126	4	0.031746	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825537	0.90955	.	.	ENSG00000151025	ENST00000376351	T	0.63417	-0.04	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.77170	0.4091	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.77874	-0.2425	10	0.62326	D	0.03	.	19.4771	0.94994	0.0:1.0:0.0:0.0	.	759	Q5T848	GP158_HUMAN	K	759	ENSP00000365529:T759K	ENSP00000365529:T759K	T	+	2	0	GPR158	25926837	1.000000	0.71417	0.692000	0.30179	0.625000	0.37756	7.487000	0.81328	2.606000	0.88127	0.650000	0.86243	ACG	.	.	none		0.527	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25886831	C	A	25886831	3	1	38	1	0	0	0	0	1	0	0	0	6663	536	19	4	2318	4	GPR158	10	25886831	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1006010	25886831	109647916	117	23891										
MYO3A	53904	hgsc.bcm.edu	37	chr10	26446318	26446318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	catcaaaccaaatagtgagcGtcaggcaagaaaatatgaca	8	8	2	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:26446318G>A	ENST00000265944.5	+	26	3039	c.2873G>A	c.(2872-2874)cGt>cAt	p.R958H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	958	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R958H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATAGTGAGCGTCAGGCAAGA	0.408																																					p.R958H		Atlas-SNP	.											MYO3A,caecum,carcinoma,0,3	MYO3A	371	3	1	Substitution - Missense(1)	breast(1)	c.G2873A						PASS	.						139	131	133					10																	26446318		2203	4300	6503	SO:0001583	missense	53904	exon26			GTGAGCGTCAGGC	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2873G>A	10.37:g.26446318G>A	ENSP00000265944:p.Arg958His	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	153	71	0.464052	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320239	0.95682	.	.	ENSG00000095777	ENST00000265944	D	0.87887	-2.31	5.31	5.31	0.75309	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94022	0.7293	10	0.72032	D	0.01	.	19.3468	0.94367	0.0:0.0:1.0:0.0	.	958	Q8NEV4	MYO3A_HUMAN	H	958	ENSP00000265944:R958H	ENSP00000265944:R958H	R	+	2	0	MYO3A	26486324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.640000	0.89533	0.655000	0.94253	CGT	.	.	none		0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26446318	G	A	26446318	3	1	38	1	0	0	0	0	1	0	0	0	10076	1145	40	1	2967	1	MYO3A	10	26446318	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	559487	26446318	109088429	118	23892										
FAM13C	220965	hgsc.bcm.edu	37	chr10	61028362	61028362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cttcaaatttccgaattttcCgcttgaggctctggatgtgc	9	10	2	1	rs534813877		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:61028362C>T	ENST00000373868.2	-	8	980	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	FAM13C_ENST00000373867.3_Missense_Mutation_p.R215Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.R319Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.R319Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.R298Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.R298Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.R298Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.R215Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	298								p.R298L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGAATTTTCCGCTTGAGGCT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18151	0.0		0.0	False		,,,				2504	0.0				p.R298Q		Atlas-SNP	.											FAM13C,mouth,carcinoma,0,1	FAM13C	124	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G893A						PASS	.						70	69	69					10																	61028362		2203	4300	6503	SO:0001583	missense	220965	exon8			ATTTTCCGCTTGA	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.893G>A	10.37:g.61028362C>T	ENSP00000362975:p.Arg298Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	50	11	0.22	NM_198215	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178996	0.94846	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;0.9;-1.12;-1.12;-1.12;-1.12	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.86768	0.6012	L	0.55834	1.745	0.39444	D	0.967292	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.978;0.993;0.984;0.998	D	0.84996	0.0897	10	0.45353	T	0.12	-9.5074	20.8794	0.99867	0.0:1.0:0.0:0.0	.	298;215;298;298;298	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Q	215;298;319;319;298;215;298;298;76	ENSP00000362974:R215Q;ENSP00000362975:R298Q;ENSP00000395661:R319Q;ENSP00000277705:R319Q;ENSP00000391993:R298Q;ENSP00000423896:R215Q;ENSP00000392302:R298Q;ENSP00000400241:R298Q;ENSP00000445068:R76Q	ENSP00000277705:R319Q	R	-	2	0	FAM13C	60698368	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.452000	0.52971	2.941000	0.99782	0.655000	0.94253	CGG	.	.	none		0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			T	61028362	C	T	61028362	3	4	38	1	0	0	0	0	1	0	0	0	5454	652	23	1	892	1	FAM13C	10	61028362	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	34582044	61028362	74506385	119	23893										
CTNNA3	29119	hgsc.bcm.edu	37	chr10	68940122	68940122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctgaagagcctggcgaatggCgttgcattctgcgataatcc	12	10	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:68940122C>T	ENST00000433211.2	-	7	1174	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A334T|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A334T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A334T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGGCGAATGGCGTTGCATTCT	0.517																																					p.A334T		Atlas-SNP	.											CTNNA3_ENST00000433211,colon,carcinoma,0,2	CTNNA3	401	2	2	Substitution - Missense(2)	large_intestine(2)	c.G1000A						PASS	.						133	114	120					10																	68940122		2203	4300	6503	SO:0001583	missense	29119	exon7			GAATGGCGTTGCA	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1000G>A	10.37:g.68940122C>T	ENSP00000389714:p.Ala334Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	78	11	0.141026	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396049	0.62177	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38401	1.14;1.14;1.23	5.83	4.85	0.62838	.	0.000000	0.50627	D	0.000112	T	0.59128	0.2171	M	0.86573	2.825	0.36848	D	0.887738	D;D;D;P	0.56746	0.977;0.977;0.965;0.74	P;P;P;B	0.56343	0.604;0.604;0.796;0.157	T	0.71111	-0.4687	10	0.62326	D	0.03	-9.5472	14.885	0.70560	0.2138:0.7862:0.0:0.0	.	334;334;334;334	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	334	ENSP00000389714:A334T;ENSP00000362849:A334T;ENSP00000441444:A334T	ENSP00000362849:A334T	A	-	1	0	CTNNA3	68610128	0.937000	0.31787	0.885000	0.34714	0.939000	0.58152	2.034000	0.41145	2.753000	0.94483	0.585000	0.79938	GCC	.	.	none		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	68940122	C	T	68940122	3	4	38	1	0	0	0	0	1	0	0	0	4014	768	27	1	1735	1	CTNNA3	10	68940122	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	7911760	68940122	66594625	120	23894										
CDH23	414152	hgsc.bcm.edu	37	chr10	73498388	73498388	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caaggcctgggaccctgatgCtggcagcaatgggcaggtgg	17	10	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:73498388C>T	ENST00000398786.2	-	0	0				CDH23_ENST00000224721.6_Missense_Mutation_p.A1453V	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GACCCTGATGCTGGCAGCAAT	0.647																																					p.A1448V		Atlas-SNP	.											.	CDH23	365	.	0			c.C4343T						PASS	.						40	46	44					10																	73498388		2075	4228	6303	SO:0001631	upstream_gene_variant	64072	exon33			CTGATGCTGGCAG	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73498388C>T	Exception_encountered	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	33	7	0.212121	NM_022124		Missense_Mutation	SNP	ENST00000398786.2	37	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011477	0.54468	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.38	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.198265	0.42420	D	0.000712	T	0.47414	0.1444	N	0.25094	0.71	0.80722	D	1	B;B	0.28026	0.009;0.198	B;B	0.39152	0.022;0.292	T	0.45352	-0.9267	9	0.40728	T	0.16	.	9.8858	0.41260	0.1395:0.7872:0.0:0.0733	.	268;1448	E7ERT0;Q9H251	.;CAD23_HUMAN	V	1453;1448;1451;268	.	ENSP00000224721:A1453V	A	+	2	0	CDH23	73168394	0.998000	0.40836	0.076000	0.20297	0.710000	0.40934	4.206000	0.58473	2.683000	0.91414	0.561000	0.74099	GCT	.	.	none		0.647	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		T	73498388	C	T	73498388	1	4	38	0	1	0	0	0	0	0	0	0	3108	797	28	2		2	CDH23	10	73498388	5'Flank	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	4558266	73498388	62036359	121	23895										
NFKB2	4791	hgsc.bcm.edu	37	chr10	104160708	104160708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctgctcgcacccccagctccGggccaacgtgaacgctcgca	10	19	0	1	rs574309302		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:104160708G>A	ENST00000369966.3	+	18	2223	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	NFKB2_ENST00000428099.1_Missense_Mutation_p.R658Q|NFKB2_ENST00000189444.6_Missense_Mutation_p.R658Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	658			Missing (in truncated form EB308).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCCCAGCTCCGGGCCAACGTG	0.667			T	IGH@	B-NHL								g|||	1	0.000199681	0.0008	0.0	5008	,	,		16003	0.0		0.0	False		,,,				2504	0.0				p.R658Q		Atlas-SNP	.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	NFKB2,NS,carcinoma,+1,1	NFKB2	48	1	0			c.G1973A						scavenged	.						28	35	33					10																	104160708		2129	4229	6358	SO:0001583	missense	4791	exon18			AGCTCCGGGCCAA	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1973G>A	10.37:g.104160708G>A	ENSP00000358983:p.Arg658Gln	Somatic	97	2	0.0206186		WXS	Illumina HiSeq	Phase_I	90	27	0.3	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	11.98	1.801863	0.31869	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.63913	-0.07;-0.07;-0.07	4.52	-0.74	0.11115	Ankyrin repeat-containing domain (4);	0.547844	0.19667	N	0.108844	T	0.34250	0.0891	N	0.08118	0	0.20489	N	0.999895	B;B	0.28820	0.224;0.224	B;B	0.21546	0.035;0.035	T	0.15954	-1.0419	10	0.35671	T	0.21	.	8.7763	0.34765	0.6305:0.0:0.3695:0.0	.	658;658	Q00653;A8K9D9	NFKB2_HUMAN;.	Q	658	ENSP00000410256:R658Q;ENSP00000358983:R658Q;ENSP00000189444:R658Q	ENSP00000189444:R658Q	R	+	2	0	NFKB2	104150698	0.989000	0.36119	0.926000	0.36857	0.560000	0.35617	1.729000	0.38115	-0.235000	0.09767	-0.330000	0.08379	CGG	.	.	none		0.667	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			A	104160708	G	A	104160708	3	1	38	1	0	0	0	0	1	0	0	0	10376	1116	39	1	2039	1	NFKB2	10	104160708	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	30662320	104160708	31374039	122	23896										
NRAP	4892	hgsc.bcm.edu	37	chr10	115412746	115412746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tttgataagcaggtgtgatcAtggctggaaagctccccttg	12	8	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:115412746A>G	ENST00000359988.3	-	6	762	c.518T>C	c.(517-519)aTg>aCg	p.M173T	NRAP_ENST00000369360.3_Missense_Mutation_p.M173T|NRAP_ENST00000369358.4_Missense_Mutation_p.M173T|NRAP_ENST00000360478.3_Missense_Mutation_p.M173T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGGTGTGATCATGGCTGGAAA	0.463																																					p.M173T		Atlas-SNP	.											.	NRAP	208	.	0			c.T518C						PASS	.						179	156	164					10																	115412746		2203	4300	6503	SO:0001583	missense	4892	exon6			GTGATCATGGCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.518T>C	10.37:g.115412746A>G	ENSP00000353078:p.Met173Thr	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	77	28	0.363636	NM_001261463		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	6.482	0.457167	0.12283	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16897	2.56;2.52;2.44;2.31	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	L	0.42245	1.32	0.49483	D	0.999797	B;B;B	0.19706	0.038;0.02;0.017	B;B;B	0.21708	0.024;0.036;0.016	T	0.06391	-1.0829	10	0.07813	T	0.8	.	16.3782	0.83418	1.0:0.0:0.0:0.0	.	173;173;173	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	T	173	ENSP00000358365:M173T;ENSP00000358367:M173T;ENSP00000353078:M173T;ENSP00000353666:M173T	ENSP00000353078:M173T	M	-	2	0	NRAP	115402736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.287000	0.72671	2.277000	0.76020	0.528000	0.53228	ATG	.	.	none		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		G	115412746	A	G	115412746	3	3	38	1	0	0	0	0	1	0	0	0	10638	217	8	2	4822	2	NRAP	10	115412746	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	11252038	115412746	20122001	123	23897										
TCERG1L	256536	hgsc.bcm.edu	37	chr10	132896590	132896590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgggagacactttagattccTctagaagtttcttgaattct	8	7	3	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr10:132896590T>G	ENST00000368642.4	-	11	1668	c.1583A>C	c.(1582-1584)gAg>gCg	p.E528A	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	528	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTTAGATTCCTCTAGAAGTTT	0.368																																					p.E528A		Atlas-SNP	.											.	TCERG1L	91	.	0			c.A1583C						PASS	.						75	65	69					10																	132896590		2157	4224	6381	SO:0001583	missense	256536	exon11			GATTCCTCTAGAA	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1583A>C	10.37:g.132896590T>G	ENSP00000357631:p.Glu528Ala	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	45	14	0.311111	NM_174937	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022569	0.75275	.	.	ENSG00000176769	ENST00000368642	T	0.32753	1.44	4.83	4.83	0.62350	FF domain (4);	0.000000	0.64402	D	0.000003	T	0.47691	0.1459	L	0.53671	1.685	0.80722	D	1	D	0.61697	0.99	D	0.64410	0.925	T	0.45906	-0.9229	10	0.54805	T	0.06	-8.1045	13.2339	0.59958	0.0:0.0:0.0:1.0	.	528	Q5VWI1	TCRGL_HUMAN	A	528	ENSP00000357631:E528A	ENSP00000357631:E528A	E	-	2	0	TCERG1L	132786580	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.505000	0.73708	1.806000	0.52798	0.460000	0.39030	GAG	.	.	none		0.368	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		G	132896590	T	G	132896590	3	3	38	1	0	0	0	0	1	0	0	0	15683	1551	54	5	185	5	TCERG1L	10	132896590	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	17483844	132896590	2638157	124	23898										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016849	1016849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtctggaaggatgttgcagtCataggacctgtggaagagaa	15	5	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:1016849C>G	ENST00000421673.2	-	31	6002	c.5952G>C	c.(5950-5952)atG>atC	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																					p.M1984I		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	2	2	Substitution - Missense(2)	lung(2)	c.G5952C						scavenged	.						1544	1533	1537					11																	1016849		2203	4298	6501	SO:0001583	missense	4588	exon31			TGCAGTCATAGGA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>C	11.37:g.1016849C>G	ENSP00000406861:p.Met1984Ile	Somatic	785	14	0.0178344		WXS	Illumina HiSeq	Phase_I	766	34	0.0443864	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.959077	0.02267	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG	.	.	none		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016849	C	G	1016849	3	3	38	1	0	0	0	0	1	0	0	0	9980	826	29	4	1379	4	MUC6	11	1016849	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		1016849	133989667	125	23899										
MUC6	4588	hgsc.bcm.edu	37	chr11	1017566	1017566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgtgaatgtagggatgtagaGgttttggccgtgctaaatga	15	3	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:1017566G>A	ENST00000421673.2	-	31	5285	c.5235C>T	c.(5233-5235)acC>acT	p.T1745T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1745	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGTAGAGGTTTTGGCCG	0.547																																					p.T1745T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,-2,2	MUC6	408	2	0			c.C5235T						scavenged	.						769	740	750					11																	1017566		2199	4287	6486	SO:0001819	synonymous_variant	4588	exon31			TGTAGAGGTTTTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5235C>T	11.37:g.1017566G>A		Somatic	253	10	0.0395257		WXS	Illumina HiSeq	Phase_I	271	24	0.0885609	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.	.	none		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017566	G	A	1017566	2	1	38	1	0	0	0	0	0	0	0	1	9980	987	35	2		2	MUC6	11	1017566	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	717	1017566	133988950	126	23900										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1264581	1264581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcaactcctgggacaactccCatccccccagtgctgaccac	6	19	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:1264581C>T	ENST00000529681.1	+	31	6529	c.6471C>T	c.(6469-6471)ccC>ccT	p.P2157P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P2160P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2157	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ggacaactcccatccccccag	0.647																																					p.P2157P		Atlas-SNP	.											MUC5B,NS,carcinoma,+1,2	MUC5B	473	2	0			c.C6471T						scavenged	.						105	136	126					11																	1264581		2094	4146	6240	SO:0001819	synonymous_variant	727897	exon31			AACTCCCATCCCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6471C>T	11.37:g.1264581C>T		Somatic	415	4	0.00963855		WXS	Illumina HiSeq	Phase_I	394	4	0.0101523	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.	.	none		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1264581	C	T	1264581	2	4	38	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC5B	11	1264581	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	247015	1264581	133741935	127	23901										
KRTAP5-5	439915	hgsc.bcm.edu	37	chr11	1651442	1651442	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggctgtggctcctgtgggggGtccaaggggggctgtggctc	21	9	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:1651442G>C	ENST00000399676.2	+	1	410	c.372G>C	c.(370-372)ggG>ggC	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.692																																					p.G124G		Atlas-SNP	.											KRTAP5-5,bladder,carcinoma,0,4	KRTAP5-5	86	4	2	Substitution - coding silent(2)	prostate(2)	c.G372C						scavenged	.																																			SO:0001819	synonymous_variant	439915	exon1			TGGGGGGTCCAAG	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.372G>C	11.37:g.1651442G>C		Somatic	38	3	0.0789474		WXS	Illumina HiSeq	Phase_I	41	6	0.146341	NM_001001480	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.	.	none		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			C	1651442	G	C	1651442	2	2	38	1	0	0	0	0	0	0	0	1	8564	1248	44	4		4	KRTAP5-5	11	1651442	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	386861	1651442	133355074	128	23902										
OR52W1	120787	hgsc.bcm.edu	37	chr11	6221264	6221264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acctcacacaccgctttggtCatcacactgtcccaaagcct	5	17	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:6221264C>T	ENST00000311352.2	+	1	889	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCTTTGGTCATCACACTGT	0.542																																					p.H271Y		Atlas-SNP	.											.	OR52W1	33	.	0			c.C811T						PASS	.						446	414	425					11																	6221264		2201	4296	6497	SO:0001583	missense	120787	exon1			TTTGGTCATCACA	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"GPCR / Class A : Olfactory receptors"	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.811C>T	11.37:g.6221264C>T	ENSP00000309673:p.His271Tyr	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	50	8	0.16	NM_001005178	Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	6.164	0.398365	0.11696	.	.	ENSG00000175485	ENST00000311352	T	0.37058	1.22	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.392383	0.18710	N	0.133340	T	0.19366	0.0465	N	0.08118	0	0.22811	N	0.998706	P	0.41313	0.745	B	0.38428	0.273	T	0.08027	-1.0742	10	0.48119	T	0.1	.	10.3227	0.43775	0.1965:0.8035:0.0:0.0	.	271	Q6IF63	O52W1_HUMAN	Y	271	ENSP00000309673:H271Y	ENSP00000309673:H271Y	H	+	1	0	OR52W1	6177840	0.023000	0.18921	0.991000	0.47740	0.037000	0.13140	3.010000	0.49559	2.518000	0.84900	0.563000	0.77884	CAT	.	.	none		0.542	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		T	6221264	C	T	6221264	3	4	38	1	0	0	0	0	1	0	0	0	11132	826	29	2	813	2	OR52W1	11	6221264	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	4569822	6221264	128785252	129	23903										
COPB1	1315	hgsc.bcm.edu	37	chr11	14501262	14501263	+	Splice_Site	INS	-	-	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actgagaaattccattaactINSaaaagaaaaaaaaaaaaaag							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:14501262_14501263insA	ENST00000249923.3	-	11	1513		c.e11-2		COPB1_ENST00000439561.2_Splice_Site|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCCATTAACTAAAAGAAAAAA	0.307																																					.		Pindel	.											.	COPB1	81	.	0			c.1213-2->T						PASS	.																																			SO:0001630	splice_region_variant	1315	exon12			.	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1213-2->T	11.37:g.14501266_14501266dupA		Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_001144062	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Splice_Site	INS	ENST00000249923.3	37	CCDS7815.1																																																																																			.	.	none		0.307	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	Intron	A	14501263	-	A	14501262	8	5	38	1	0	1	1	0	0	0	1	0	3728	1536	53	0	1698	0	COPB1	11	14501262	Splice_Site	INS	-	TCGA-RQ-A68N-01A-11D-A31X-10	8279998	14501262	120505254	130	23904										
SLC5A12	159963	hgsc.bcm.edu	37	chr11	26700336	26700336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgtagtaaaggtaggagatcGagtaccaggtatcagctatt	12	5	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:26700336G>A	ENST00000396005.3	-	13	1811	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	501					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTAGGAGATCGAGTACCAGGT	0.468																																					p.S501L		Atlas-SNP	.											.	SLC5A12	134	.	0			c.C1502T						PASS	.						122	121	121					11																	26700336		1978	4171	6149	SO:0001583	missense	159963	exon13			GAGATCGAGTACC	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1502C>T	11.37:g.26700336G>A	ENSP00000379326:p.Ser501Leu	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	107	7	0.0654206	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102821	0.76983	.	.	ENSG00000148942	ENST00000396005	T	0.77750	-1.12	5.95	5.95	0.96441	.	0.451885	0.21540	N	0.072906	D	0.84406	0.5465	M	0.72576	2.205	0.80722	D	1	D	0.56035	0.974	P	0.55391	0.775	D	0.85350	0.1101	10	0.72032	D	0.01	.	14.7327	0.69393	0.0:0.1448:0.8552:0.0	.	501	Q1EHB4	SC5AC_HUMAN	L	501	ENSP00000379326:S501L	ENSP00000379326:S501L	S	-	2	0	SLC5A12	26656912	1.000000	0.71417	0.842000	0.33263	0.625000	0.37756	5.509000	0.67012	2.825000	0.97269	0.655000	0.94253	TCG	.	.	none		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		A	26700336	G	A	26700336	3	1	38	1	0	0	0	0	1	0	0	0	14664	1059	37	1	366	1	SLC5A12	11	26700336	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	12199074	26700336	108306180	131	23905										
SLC5A12	159963	hgsc.bcm.edu	37	chr11	26743090	26743090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agctgacatgaagctggctgTcagagacaagccgacagggc	14	10	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:26743090T>C	ENST00000396005.3	-	1	481	c.172A>G	c.(172-174)Aca>Gca	p.T58A	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T58A	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	58					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAGCTGGCTGTCAGAGACAAG	0.517																																					p.T58A		Atlas-SNP	.											.	SLC5A12	134	.	0			c.A172G						PASS	.						68	68	68					11																	26743090		2203	4299	6502	SO:0001583	missense	159963	exon1			TGGCTGTCAGAGA	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.172A>G	11.37:g.26743090T>C	ENSP00000379326:p.Thr58Ala	Somatic	207	1	0.00483092		WXS	Illumina HiSeq	Phase_I	218	107	0.490826	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845233	0.51164	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.86497	-2.13;-2.13	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	L	0.39514	1.22	0.58432	D	0.999997	B;P	0.43701	0.074;0.815	B;P	0.54706	0.043;0.759	D	0.85149	0.0985	10	0.19147	T	0.46	.	15.7638	0.78110	0.0:0.0:0.0:1.0	.	58;58	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	A	58	ENSP00000379326:T58A;ENSP00000280467:T58A	ENSP00000280467:T58A	T	-	1	0	SLC5A12	26699666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.066000	0.64351	2.135000	0.66039	0.477000	0.44152	ACA	.	.	none		0.517	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		C	26743090	T	C	26743090	3	2	38	1	0	0	0	0	1	0	0	0	14664	1667	58	2	1744	2	SLC5A12	11	26743090	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	42754	26743090	108263426	132	23906										
OR4C3	256144	hgsc.bcm.edu	37	chr11	48346815	48346815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tatggctcctaaactcattgCtgactcattgtatgagggga	10	8	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:48346815C>A	ENST00000319856.4	+	1	344	c.323C>A	c.(322-324)gCt>gAt	p.A108D		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAACTCATTGCTGACTCATTG	0.463																																					p.A108D		Atlas-SNP	.											OR4C3,mouth,carcinoma,0,1	OR4C3	75	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C323A						PASS	.						210	199	202					11																	48346815		2201	4298	6499	SO:0001583	missense	256144	exon1			TCATTGCTGACTC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.323C>A	11.37:g.48346815C>A	ENSP00000321419:p.Ala108Asp	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	109	9	0.0825688	NM_001004702	B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431927	0.43122	.	.	ENSG00000176547	ENST00000319856	T	0.00912	5.55	5.78	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.123186	0.37219	N	0.002190	T	0.01421	0.0046	L	0.51914	1.62	0.09310	N	1	P	0.43857	0.819	B	0.43867	0.434	T	0.46555	-0.9183	10	0.72032	D	0.01	.	7.969	0.30117	0.0:0.6612:0.0:0.3388	.	81	Q8NH37	OR4C3_HUMAN	D	108	ENSP00000321419:A108D	ENSP00000321419:A108D	A	+	2	0	OR4C3	48303391	0.000000	0.05858	0.987000	0.45799	0.357000	0.29423	-0.501000	0.06398	0.778000	0.33520	0.478000	0.44815	GCT	.	.	none		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		A	48346815	C	A	48346815	3	1	38	1	0	0	0	0	1	0	0	0	11050	797	28	4	325	4	OR4C3	11	48346815	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	21603725	48346815	86659701	133	23907										
OR8I2	120586	hgsc.bcm.edu	37	chr11	55860964	55860964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcttcacacccctatgtacTttttcctgagcaatttagca	5	12	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:55860964T>C	ENST00000302124.2	+	1	212	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CCCTATGTACTTTTTCCTGAG	0.378																																					p.F61L		Atlas-SNP	.											.	OR8I2	119	.	0			c.T181C						PASS	.						242	232	236					11																	55860964		2201	4296	6497	SO:0001583	missense	120586	exon1			ATGTACTTTTTCC	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.181T>C	11.37:g.55860964T>C	ENSP00000303864:p.Phe61Leu	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	104	29	0.278846	NM_001003750	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801602	0.31869	.	.	ENSG00000172154	ENST00000302124	T	0.00551	6.65	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000876	T	0.00754	0.0025	M	0.71036	2.16	0.09310	N	1	B	0.19073	0.033	B	0.14023	0.01	T	0.39014	-0.9634	10	0.66056	D	0.02	-19.7083	9.6379	0.39822	0.0:0.0:0.1757:0.8243	.	61	Q8N0Y5	OR8I2_HUMAN	L	61	ENSP00000303864:F61L	ENSP00000303864:F61L	F	+	1	0	OR8I2	55617540	0.014000	0.17966	0.905000	0.35620	0.031000	0.12232	1.570000	0.36439	1.803000	0.52742	0.362000	0.22060	TTT	.	.	none		0.378	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		C	55860964	T	C	55860964	3	2	38	1	0	0	0	0	1	0	0	0	11240	1609	56	3	183	3	OR8I2	11	55860964	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	7514149	55860964	79145552	134	23908										
GLYATL1	92292	hgsc.bcm.edu	37	chr11	58722739	58722739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gagagcactcctcttggttaCggaagatattctgaagctca	10	9	3	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:58722739C>T	ENST00000317391.4	+	7	744	c.404C>T	c.(403-405)aCg>aTg	p.T135M	RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.T166M|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTCTTGGTTACGGAAGATATT	0.443																																					p.T166M		Atlas-SNP	.											GLYATL1_ENST00000317391,colon,carcinoma,0,2	GLYATL1	89	2	0			c.C497T						scavenged	.						93	90	91					11																	58722739		2201	4295	6496	SO:0001583	missense	92292	exon6			TGGTTACGGAAGA	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.404C>T	11.37:g.58722739C>T	ENSP00000322223:p.Thr135Met	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	277	4	0.0144404	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	3.196	-0.164779	0.06502	.	.	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	T;T;T	0.18338	2.22;2.22;2.22	1.78	-0.476	0.12100	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	2.418270	0.02861	N	0.130319	T	0.10380	0.0254	N	0.20986	0.625	0.09310	N	1	B;B	0.31241	0.315;0.237	B;B	0.24701	0.048;0.055	T	0.20338	-1.0278	10	0.25751	T	0.34	.	4.3613	0.11203	0.0:0.5649:0.0:0.4351	.	166;135	Q969I3-2;Q969I3	.;GLYL1_HUMAN	M	158;112;135;166	ENSP00000434652:T158M;ENSP00000322223:T135M;ENSP00000300079:T166M	ENSP00000300079:T166M	T	+	2	0	GLYATL1	58479315	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.860000	0.04272	-0.032000	0.13758	0.411000	0.27672	ACG	.	.	none		0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58722739	C	T	58722739	3	4	38	1	0	0	0	0	1	0	0	0	6480	536	19	1	519	1	GLYATL1	11	58722739	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2861775	58722739	76283777	135	23909										
NUDT22	84304	hgsc.bcm.edu	37	chr11	63994599	63994599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tacctggtgggcaccctgagCctcaggtgagattccaggct	13	12	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:63994599C>A	ENST00000279206.3	+	2	631	c.475C>A	c.(475-477)Cct>Act	p.P159T	TRPT1_ENST00000317459.6_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000546089.1_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.P159T|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000540472.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	159	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GCACCCTGAGCCTCAGGTGAG	0.622																																					p.P159T		Atlas-SNP	.											.	NUDT22	24	.	0			c.C475A						PASS	.						8	10	9					11																	63994599		2097	4232	6329	SO:0001583	missense	84304	exon2			CCTGAGCCTCAGG	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"Nudix motif containing"	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.475C>A	11.37:g.63994599C>A	ENSP00000279206:p.Pro159Thr	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	42	14	0.333333	NM_001128613	C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098505	0.94197	.	.	ENSG00000149761	ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T	0.49139	0.79;0.79;0.79	4.55	4.55	0.56014	NUDIX hydrolase domain (1);	0.052647	0.85682	D	0.000000	T	0.70491	0.3230	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75654	-0.3243	10	0.87932	D	0	-5.8406	16.6018	0.84817	0.0:1.0:0.0:0.0	.	159;159;159	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	T	159	ENSP00000279206:P159T;ENSP00000407970:P159T;ENSP00000401085:P159T	ENSP00000279206:P159T	P	+	1	0	NUDT22	63751175	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.990000	0.76225	2.528000	0.85240	0.491000	0.48974	CCT	.	.	none		0.622	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		A	63994599	C	A	63994599	3	1	38	1	0	0	0	0	1	0	0	0	10739	739	26	4	477	4	NUDT22	11	63994599	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	5271860	63994599	71011917	136	23910										
ATG2A	23130	hgsc.bcm.edu	37	chr11	64662599	64662599	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggggcagctggcggatcacgCcccccacggcgcccgtcagc	15	18	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:64662599C>G	ENST00000377264.3	-	41	5775	c.5663G>C	c.(5662-5664)gGc>gCc	p.G1888A	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1890A	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1888					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCGGATCACGCCCCCCACGGC	0.672																																					p.G1888A		Atlas-SNP	.											.	ATG2A	133	.	0			c.G5663C						PASS	.						39	38	39					11																	64662599		2200	4295	6495	SO:0001583	missense	23130	exon41			ATCACGCCCCCCA		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5663G>C	11.37:g.64662599C>G	ENSP00000366475:p.Gly1888Ala	Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	51	14	0.27451	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524797	0.44969	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.05996	3.36;3.36	3.99	3.06	0.35304	Autophagy-related, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.14227	0.0344	L	0.47078	1.49	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.14811	-1.0459	10	0.12103	T	0.63	.	10.8388	0.46702	0.1905:0.8095:0.0:0.0	.	1888;1890	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	A	1890;281;1888	ENSP00000410522:G1890A;ENSP00000366475:G1888A	ENSP00000366473:G281A	G	-	2	0	ATG2A	64419175	1.000000	0.71417	0.846000	0.33378	0.094000	0.18550	5.489000	0.66875	0.999000	0.39023	0.561000	0.74099	GGC	.	.	none		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		G	64662599	C	G	64662599	3	3	38	1	0	0	0	0	1	0	0	0	1093	739	26	4	157	4	ATG2A	11	64662599	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	668000	64662599	70343917	137	23911										
CTTN	2017	hgsc.bcm.edu	37	chr11	70265880	70265880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaaggtttcggcggcaaataCggtatcgacaaggacaaagt	12	7	0	0	rs35414621	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:70265880C>T	ENST00000301843.8	+	9	803	c.597C>T	c.(595-597)taC>taT	p.Y199Y	CTTN_ENST00000346329.3_Silent_p.Y199Y|CTTN_ENST00000376561.3_Silent_p.Y199Y|CTTN_ENST00000538675.1_5'Flank	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	199					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCGGCAAATACGGTATCGACA	0.413													C|||	49	0.00978435	0.0	0.0086	5008	,	,		18676	0.0		0.0119	False		,,,				2504	0.0317				p.Y199Y		Atlas-SNP	.											.	CTTN	162	.	0			c.C597T						PASS	.	C	,,	8,4392	14.3+/-33.2	0,8,2192	74	70	71		597,597,597	-7.3	0.2	11	dbSNP_126	71	113,8475	60.6+/-122.4	1,111,4182	no	coding-synonymous,coding-synonymous,coding-synonymous	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	,,	1,119,6374	TT,TC,CC		1.3158,0.1818,0.9316	,,	199/635,199/551,199/514	70265880	121,12867	2200	4294	6494	SO:0001819	synonymous_variant	2017	exon9			CAAATACGGTATC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.597C>T	11.37:g.70265880C>T		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	150	31	0.206667	NM_001184740	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	C	0.906	-0.720787	0.03182	0.001818	0.013158	ENSG00000085733	ENST00000415461	.	.	.	4.92	-7.32	0.01436	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67345	-0.5694	4	.	.	.	-15.9401	17.09	0.86619	0.0:0.2583:0.0:0.7417	rs35414621;rs61749188	.	.	.	M	181	.	.	T	+	2	0	CTTN	69943528	0.004000	0.15560	0.164000	0.22755	0.079000	0.17450	-1.423000	0.02450	-1.404000	0.02050	-0.971000	0.02607	ACG	C|0.993;T|0.007	0.007	strong		0.413	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		T	70265880	C	T	70265880	2	4	38	1	0	0	0	0	0	0	0	1	4044	547	19	1		1	CTTN	11	70265880	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	5603281	70265880	64740636	138	23912										
MAML2	84441	hgsc.bcm.edu	37	chr11	95825260	95825260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgctgctgctgctgctgttgTtgctgctgctgctgctgttg	14	10	0	0	rs537179849	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:95825260T>C	ENST00000524717.1	-	2	3219	c.1935A>G	c.(1933-1935)caA>caG	p.Q645Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	645					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)	p.Q645Q(1)	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)				gctgctgttgttgctgctgct	0.517			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q645Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,colon,carcinoma,0,1	MAML2	94	1	1	Substitution - coding silent(1)	large_intestine(1)	c.A1935G						scavenged	.						39	43	42					11																	95825260		2089	4107	6196	SO:0001819	synonymous_variant	84441	exon2			CTGTTGTTGCTGC	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.1935A>G	11.37:g.95825260T>C		Somatic	62	3	0.0483871		WXS	Illumina HiSeq	Phase_I	62	3	0.0483871	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.	.	none		0.517	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825260	T	C	95825260	2	2	38	1	0	0	0	0	0	0	0	1	9206	1722	60	2		2	MAML2	11	95825260	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	25559380	95825260	39181256	139	23913										
CASP1	834	hgsc.bcm.edu	37	chr11	104899975	104899975	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actcctactgaatctttaaaCcacaccacaccagggctgtc	5	15	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:104899975C>T	ENST00000533400.1	-	7	917	c.882G>A	c.(880-882)tgG>tgA	p.W294*	CASP1_ENST00000436863.3_Nonsense_Mutation_p.W294*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.W273*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.W294*|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Nonsense_Mutation_p.W273*|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000527979.1_Nonsense_Mutation_p.W257*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.W201*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.W255*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.W273*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	294					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	AATCTTTAAACCACACCACAC	0.393																																					p.W294X	NSCLC(41;1246 1743 4934)	Atlas-SNP	.											.	CASP1	53	.	0			c.G882A						PASS	.						65	59	61					11																	104899975		2202	4299	6501	SO:0001587	stop_gained	834	exon7			TTTAAACCACACC	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.882G>A	11.37:g.104899975C>T	ENSP00000433138:p.Trp294*	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	89	15	0.168539	NM_001257118	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.503509	0.85176	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	4.25	4.25	0.50352	.	0.813732	0.11570	N	0.550882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	12.3575	0.55184	0.0:1.0:0.0:0.0	.	.	.	.	X	143;201;257;294;294;273;273;255	.	ENSP00000376844:W273X	W	-	3	0	CASP1	104405185	0.002000	0.14202	0.067000	0.19924	0.030000	0.12068	0.280000	0.18790	2.370000	0.80446	0.557000	0.71058	TGG	.	.	none		0.393	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		T	104899975	C	T	104899975	4	4	38	1	0	0	0	0	0	1	0	0	2668	508	18	2	344	2	CASP1	11	104899975	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	9074715	104899975	30106541	140	23914										
EXPH5	23086	hgsc.bcm.edu	37	chr11	108380629	108380629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cctgggacctgtttttgtccCgctgcgataagcccaacttt	9	13	0	0	rs181581015		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:108380629C>T	ENST00000265843.4	-	6	5715	c.5605G>A	c.(5605-5607)Ggg>Agg	p.G1869R	EXPH5_ENST00000428840.1_Missense_Mutation_p.G1793R|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1862R|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1681R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1869					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTTTTGTCCCGCTGCGATAA	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19294	0.0		0.0	False		,,,				2504	0.0				p.G1869R		Atlas-SNP	.											.	EXPH5	193	.	0			c.G5605A						PASS	.	C	ARG/GLY	2,4400	4.2+/-10.8	0,2,2199	60	59	60		5605	-0.9	0	11		60	0,8596		0,0,4298	no	missense	EXPH5	NM_015065.2	125	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	1869/1990	108380629	2,12996	2201	4298	6499	SO:0001583	missense	23086	exon6			TTGTCCCGCTGCG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5605G>A	11.37:g.108380629C>T	ENSP00000265843:p.Gly1869Arg	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	180	47	0.261111	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.195634	0.00299	4.54E-4	0.0	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.02737	4.4;4.33;4.18;4.4	5.95	-0.868	0.10652	.	0.272209	0.32372	N	0.006197	T	0.00580	0.0019	N	0.00104	-2.125	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45818	-0.9235	10	0.05351	T	0.99	-1.6345	8.4291	0.32746	0.0:0.177:0.1025:0.7206	.	1869	Q8NEV8	EXPH5_HUMAN	R	1869;1793;1681;1862;699	ENSP00000265843:G1869R;ENSP00000391966:G1793R;ENSP00000411390:G1681R;ENSP00000432546:G1862R	ENSP00000265843:G1869R	G	-	1	0	EXPH5	107885839	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.794000	0.26958	-0.340000	0.08388	-1.090000	0.02178	GGG	C|1.000;T|0.000	0.000	strong		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108380629	C	T	108380629	3	4	38	1	0	0	0	0	1	0	0	0	5322	652	23	1	368	1	EXPH5	11	108380629	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	3480654	108380629	26625887	141	23915										
CADM1	23705	hgsc.bcm.edu	37	chr11	115110994	115110994	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctatagagatggaaacttacGcctgaagtccctgaaataaa	8	8	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:115110994G>A	ENST00000452722.3	-	2	291	c.271C>T	c.(271-273)Cct>Tct	p.P91S	CADM1_ENST00000542447.2_Splice_Site_p.P91S|CADM1_ENST00000537058.1_Splice_Site_p.P91S|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Splice_Site_p.P91S|CADM1_ENST00000331581.6_Splice_Site_p.P91S	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GGAAACTTACGCCTGAAGTCC	0.398																																					p.P91S		Atlas-SNP	.											.	CADM1	74	.	0			c.C271T						PASS	.						79	73	75					11																	115110994		2201	4296	6497	SO:0001630	splice_region_variant	23705	exon2			ACTTACGCCTGAA	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.271+1C>T	11.37:g.115110994G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	85	30	0.352941	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981333|3.981333	0.74474|0.74474	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094	.|T;T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78253|0.78253	0.4254|0.4254	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D	.|0.89917	.|1.0;1.0;1.0;0.635;0.995	.|D;D;D;B;P	.|0.91635	.|0.998;0.998;0.999;0.364;0.691	T|T	0.75703|0.75703	-0.3225|-0.3225	5|9	.|.	.|.	.|.	.|.	15.856|15.856	0.78977|0.78977	0.0:0.1349:0.8651:0.0|0.0:0.1349:0.8651:0.0	.|.	.|91;91;92;91;91	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	V|S	89|91;91;91;91;50;91;58	.|ENSP00000439176:P91S;ENSP00000395359:P91S;ENSP00000439817:P91S;ENSP00000440322:P91S;ENSP00000329797:P91S;ENSP00000439696:P58S	.|.	A|P	-|-	2|1	0|0	CADM1|CADM1	114616204|114616204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.434000|9.434000	0.97515|0.97515	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GCC|CCT	.	.	none		0.398	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	Missense_Mutation	A	115110994	G	A	115110994	5	1	38	1	0	0	0	0	0	0	1	0	2566	1101	38	1	1093	1	CADM1	11	115110994	Splice_Site	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	6730365	115110994	19895522	142	23916										
ARCN1	372	hgsc.bcm.edu	37	chr11	118463477	118463477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcagagtctctaattggcctGaagaatccagagaagtcatt	10	8	2	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:118463477G>A	ENST00000264028.4	+	7	1133	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	ARCN1_ENST00000359415.4_Silent_p.L387L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.L258L|RNU6-1157P_ENST00000384456.1_RNA	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	346	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TAATTGGCCTGAAGAATCCAG	0.423																																					p.L346L		Atlas-SNP	.											.	ARCN1	33	.	0			c.G1038A						PASS	.						179	186	184					11																	118463477		2200	4295	6495	SO:0001819	synonymous_variant	372	exon7			TGGCCTGAAGAAT	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1038G>A	11.37:g.118463477G>A		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	140	42	0.3	NM_001655	B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	CCDS8400.1																																																																																			.	.	none		0.423	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			A	118463477	G	A	118463477	2	1	38	1	0	0	0	0	0	0	0	1	842	1277	45	2		2	ARCN1	11	118463477	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3352483	118463477	16543039	143	23917										
TECTA	7007	hgsc.bcm.edu	37	chr11	121008699	121008699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccgtgtttggctacagcatcGtgatccaccgagcttacaag	10	12	0	1	rs186780639	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr11:121008699G>A	ENST00000392793.1	+	11	3782	c.3511G>A	c.(3511-3513)Gtg>Atg	p.V1171M	TECTA_ENST00000264037.2_Missense_Mutation_p.V1171M			O75443	TECTA_HUMAN	tectorin alpha	1171	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTACAGCATCGTGATCCACCG	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		20826	0.004		0.0	False		,,,				2504	0.0				p.V1171M		Atlas-SNP	.											.	TECTA	329	.	0			c.G3511A						PASS	.						58	47	51					11																	121008699		2203	4299	6502	SO:0001583	missense	7007	exon10			AGCATCGTGATCC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3511G>A	11.37:g.121008699G>A	ENSP00000376543:p.Val1171Met	Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	123	28	0.227642	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	15.87	2.959524	0.53400	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59906	0.23;0.23	4.63	4.63	0.57726	von Willebrand factor, type D domain (3);	0.143107	0.47455	D	0.000237	T	0.50803	0.1637	L	0.55213	1.73	0.36863	D	0.888532	D	0.55800	0.973	P	0.50270	0.636	T	0.62077	-0.6930	10	0.35671	T	0.21	.	11.3966	0.49845	0.0837:0.0:0.9163:0.0	.	1171	O75443	TECTA_HUMAN	M	1171	ENSP00000376543:V1171M;ENSP00000264037:V1171M	ENSP00000264037:V1171M	V	+	1	0	TECTA	120513909	0.998000	0.40836	0.967000	0.41034	0.957000	0.61999	2.702000	0.47102	2.267000	0.75376	0.655000	0.94253	GTG	G|0.998;A|0.002	0.002	strong		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121008699	G	A	121008699	3	1	38	1	0	0	0	0	1	0	0	0	15744	1145	40	1	3549	1	TECTA	11	121008699	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	2545222	121008699	13997817	144	23918										
KLRC4	8302	hgsc.bcm.edu	37	chr12	10560927	10560927	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acattgacaatcataatgtaCctttctgcattcttctattc	3	10	4	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:10560927C>G	ENST00000309384.1	-	3	522		c.e3+1		KLRC4-KLRK1_ENST00000539300.1_Splice_Site	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4						cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TCATAATGTACCTTTCTGCAT	0.279																																					.		Atlas-SNP	.											.	KLRC4	23	.	0			c.340+1G>C						PASS	.						71	68	69					12																	10560927		2200	4280	6480	SO:0001630	splice_region_variant	8302	exon4			AATGTACCTTTCT	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"Killer cell lectin-like receptors"	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.340+1G>C	12.37:g.10560927C>G		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	189	53	0.280423	NM_013431	O60851	Splice_Site	SNP	ENST00000309384.1	37	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	C	4.834	0.155014	0.09236	.	.	ENSG00000183542	ENST00000309384	.	.	.	3.2	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.25354	N	0.988846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5561	0.27824	0.2554:0.7445:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLRC4	10452194	0.098000	0.21812	0.116000	0.21606	0.016000	0.09150	1.254000	0.32897	0.878000	0.35920	0.585000	0.79938	.	.	.	none		0.279	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431	Intron	G	10560927	C	G	10560927	5	3	38	1	0	0	0	0	0	0	1	0	8418	521	18	4	143	4	KLRC4	12	10560927	Splice_Site	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		10560927	123290968	145	23919										
CPNE8	144402	hgsc.bcm.edu	37	chr12	39299291	39299291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgggatggcagcgctcagctGgttcaagtccccgatgcccg	14	14	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:39299291G>T	ENST00000331366.5	-	1	142	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	CPNE8_ENST00000360449.3_Intron|RP11-396F22.1_ENST00000551152.1_RNA	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	16	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GCGCTCAGCTGGTTCAAGTCC	0.662																																					p.Q16K		Atlas-SNP	.											.	CPNE8	66	.	0			c.C46A						PASS	.						59	50	53					12																	39299291		2200	4295	6495	SO:0001583	missense	144402	exon1			TCAGCTGGTTCAA	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.46C>A	12.37:g.39299291G>T	ENSP00000329748:p.Gln16Lys	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_153634	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748722	0.49257	.	.	ENSG00000139117	ENST00000331366	T	0.23348	1.91	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	1.034400	0.07657	N	0.932936	T	0.13970	0.0338	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.10823	-1.0613	10	0.49607	T	0.09	-3.0068	9.6428	0.39850	0.098:0.0:0.902:0.0	.	16	Q86YQ8	CPNE8_HUMAN	K	16	ENSP00000329748:Q16K	ENSP00000329748:Q16K	Q	-	1	0	CPNE8	37585558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.799000	0.38824	2.555000	0.86185	0.563000	0.77884	CAG	.	.	none		0.662	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		T	39299291	G	T	39299291	3	4	38	1	0	0	0	0	1	0	0	0	3818	1357	47	4	1728	4	CPNE8	12	39299291	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	28738364	39299291	94552604	146	23920										
C12orf40	283461	hgsc.bcm.edu	37	chr12	40044041	40044041	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cttcaaattttttttttcagCgcagtactgttaactgttct	5	8	3	0	rs568770394		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:40044041C>T	ENST00000324616.5	+	7	725	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	C12orf40_ENST00000405531.3_Splice_Site_p.R191C|C12orf40_ENST00000398716.1_Splice_Site_p.R114C	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	191								p.R191C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTTTTTCAGCGCAGTACTGT	0.269													C|||	1	0.000199681	0.0	0.0	5008	,	,		12472	0.0		0.0	False		,,,				2504	0.001				p.R191C		Atlas-SNP	.											C12orf40,NS,carcinoma,0,1	C12orf40	118	1	1	Substitution - Missense(1)	endometrium(1)	c.C571T						scavenged	.						74	64	67					12																	40044041		1784	4060	5844	SO:0001630	splice_region_variant	283461	exon7			TTTCAGCGCAGTA	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.571-1C>T	12.37:g.40044041C>T		Somatic	291	0	0		WXS	Illumina HiSeq	Phase_I	245	6	0.0244898	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298950	0.10622	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.61	0.31194	.	0.479030	0.15666	N	0.250646	T	0.18800	0.0451	N	0.08118	0	0.26580	N	0.973408	B	0.24368	0.102	B	0.06405	0.002	T	0.15694	-1.0428	9	.	.	.	.	7.3809	0.26856	0.0:0.876:0.0:0.124	.	191	Q86WS4	CL040_HUMAN	C	191;114;191	ENSP00000383897:R191C;ENSP00000317671:R191C	.	R	+	1	0	C12orf40	38330308	0.027000	0.19231	0.785000	0.31869	0.303000	0.27691	-0.145000	0.10265	1.031000	0.39867	0.650000	0.86243	CGC	.	.	none		0.269	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	Missense_Mutation	T	40044041	C	T	40044041	5	4	38	1	0	0	0	0	0	0	1	0	1686	782	27	1	597	1	C12orf40	12	40044041	Splice_Site	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	744750	40044041	93807854	147	23921										
KRT81	3887	hgsc.bcm.edu	37	chr12	52684932	52684934	+	In_Frame_Del	DEL	CTC	CTC	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agggacttgatctgctccttCtcctcctgcttcacgcactg							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:52684932_52684934delCTC	ENST00000327741.5	-	1	384_386	c.316_318delGAG	c.(316-318)gagdel	p.E106del	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	106	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCTCCTTCTCCTCCTGCTTC	0.616																																					p.106_107del		Atlas-Indel	.											.	KRT81	46	.	0			c.317_319del						PASS	.																																			SO:0001651	inframe_deletion	3887	exon1			.	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.316_318delGAG	12.37:g.52684935_52684937delCTC	ENSP00000369349:p.Glu106del	Somatic	461	0	0		WXS	Illumina HiSeq	Phase_I	527	44	0.0834915	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	In_Frame_Del	DEL	ENST00000327741.5	37	CCDS31805.1																																																																																			.	.	none		0.616	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		-	52684934	CTC	-	52684932	7	5	38	1	0	1	0	1	0	0	0	0	8495	912	32	0	1235	0	KRT81	12	52684932	In_Frame_Del	DEL	CTC	TCGA-RQ-A68N-01A-11D-A31X-10	12640891	52684932	81166963	148	23922										
KRT86	3892	hgsc.bcm.edu	37	chr12	52696011	52696013	+	In_Frame_Del	DEL	AGG	AGG	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caacgcgcagtgcgtgaagcAggaggagaaggagcagatca							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:52696011_52696013delAGG	ENST00000423955.2	+	3	489_491	c.311_313delAGG	c.(310-315)caggag>cag	p.E106del	KRT86_ENST00000544024.1_In_Frame_Del_p.E106del|KRT86_ENST00000293525.5_In_Frame_Del_p.E106del			O43790	KRT86_HUMAN	keratin 86	106	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCGTGAAGCAGGAGGAGAAGGA	0.621																																					p.104_104del		Atlas-Indel	.											.	KRT86	33	.	0			c.310_312del						PASS	.																																			SO:0001651	inframe_deletion	3892	exon1			.	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.311_313delAGG	12.37:g.52696014_52696016delAGG	ENSP00000444533:p.Glu106del	Somatic	483	0	0		WXS	Illumina HiSeq	Phase_I	526	55	0.104563	NM_002284	P78387	In_Frame_Del	DEL	ENST00000423955.2	37	CCDS41785.1																																																																																			.	.	none		0.621	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		-	52696013	AGG	-	52696011	7	5	38	1	0	1	0	1	0	0	0	0	8500	188	7	0	313	0	KRT86	12	52696011	In_Frame_Del	DEL	AGG	TCGA-RQ-A68N-01A-11D-A31X-10	11079	52696011	81155884	149	23923										
KRT85	3891	hgsc.bcm.edu	37	chr12	52761179	52761179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctgagctgatcctgtaggagCggcacgacatcgtgtgaggc	15	10	0	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:52761179C>T	ENST00000257901.3	-	1	86	c.11G>A	c.(10-12)cGc>cAc	p.R4H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	4	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGTAGGAGCGGCACGACAT	0.632																																					p.R4H		Atlas-SNP	.											.	KRT85	78	.	0			c.G11A						PASS	.						32	31	32					12																	52761179		2203	4300	6503	SO:0001583	missense	3891	exon1			TAGGAGCGGCACG	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.11G>A	12.37:g.52761179C>T	ENSP00000257901:p.Arg4His	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	99	26	0.262626	NM_002283	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.823096	0.32237	.	.	ENSG00000135443	ENST00000257901	D	0.83506	-1.73	4.63	1.68	0.24146	.	0.354724	0.24647	N	0.036744	T	0.73992	0.3658	L	0.50333	1.59	0.80722	D	1	B	0.21905	0.062	B	0.15870	0.014	T	0.67558	-0.5640	10	0.51188	T	0.08	.	5.8657	0.18773	0.4318:0.4532:0.0:0.1149	.	4	P78386	KRT85_HUMAN	H	4	ENSP00000257901:R4H	ENSP00000257901:R4H	R	-	2	0	KRT85	51047446	0.838000	0.29461	0.998000	0.56505	0.906000	0.53458	0.695000	0.25527	0.611000	0.30052	0.561000	0.74099	CGC	.	.	none		0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		T	52761179	C	T	52761179	3	4	38	1	0	0	0	0	1	0	0	0	8499	768	27	1	1548	1	KRT85	12	52761179	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	65168	52761179	81090716	150	23924										
AGAP2	116986	hgsc.bcm.edu	37	chr12	58131511	58131511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	accttgagcctccggctgccGgtgccagggtgcggagagga	17	12	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:58131511G>A	ENST00000547588.1	-	1	518	c.519C>T	c.(517-519)acC>acT	p.T173T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	173					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCGGCTGCCGGTGCCAGGGT	0.766																																					p.T173T		Atlas-SNP	.											.	AGAP2	167	.	0			c.C519T						PASS	.						2	2	2					12																	58131511		1052	2723	3775	SO:0001819	synonymous_variant	116986	exon1			GCTGCCGGTGCCA	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.519C>T	12.37:g.58131511G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	50	7	0.14	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	g	3.978	-0.007039	0.07773	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.07	-0.962	0.10333	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47446	-0.9117	4	.	.	.	.	8.364	0.32376	0.5943:0.0:0.4057:0.0	.	.	.	.	W	37	.	.	R	-	1	2	AGAP2	56417778	0.000000	0.05858	0.991000	0.47740	0.624000	0.37722	-3.808000	0.00361	-0.164000	0.10927	-0.372000	0.07161	CGG	.	.	none		0.766	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		A	58131511	G	A	58131511	2	1	38	1	0	0	0	0	0	0	0	1	368	1103	39	1		1	AGAP2	12	58131511	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5370332	58131511	75720384	151	23925										
PPFIA2	8499	hgsc.bcm.edu	37	chr12	81688639	81688639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gagatgttggaggagctgaaGgacttgttagggaaaccatc	15	5	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:81688639G>T	ENST00000549396.1	-	24	3060	c.2900C>A	c.(2899-2901)cCt>cAt	p.P967H	PPFIA2_ENST00000549325.1_Missense_Mutation_p.P952H|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P184H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P893H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P967H|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P534H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P868H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P967H|PPFIA2_ENST00000550584.2_Missense_Mutation_p.P967H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P814H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P952H	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	967					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.P967H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGGAGCTGAAGGACTTGTTAG	0.453																																					p.P967H		Atlas-SNP	.											PPFIA2,colon,carcinoma,0,1	PPFIA2	207	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2900A						scavenged	.						118	116	116					12																	81688639		2012	4178	6190	SO:0001583	missense	8499	exon23			GCTGAAGGACTTG	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2900C>A	12.37:g.81688639G>T	ENSP00000450337:p.Pro967His	Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	150	3	0.02	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670971|4.670971	0.88348|0.88348	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T;T;T	.|0.17854	.|2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Sterile alpha motif/pointed domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46678|0.46678	0.1405|0.1405	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.45041|0.45041	-0.9288|-0.9288	5|10	.|0.87932	.|D	.|0	-15.976|-15.976	19.6517|19.6517	0.95819|0.95819	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967	.|O75334	.|LIPA2_HUMAN	I|H	101|967;952;534;184;893;978;952;967;868;967	.|ENSP00000450337:P967H;ENSP00000450298:P952H;ENSP00000438337:P534H;ENSP00000445532:P184H;ENSP00000385093:P893H;ENSP00000327416:P952H;ENSP00000449338:P967H;ENSP00000388373:P868H;ENSP00000447868:P967H	.|ENSP00000327416:P952H	L|P	-|-	1|2	0|0	PPFIA2|PPFIA2	80212770|80212770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CTT|CCT	.	.	none		0.453	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			T	81688639	G	T	81688639	3	4	38	1	0	0	0	0	1	0	0	0	12310	1000	35	4	909	4	PPFIA2	12	81688639	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	23557128	81688639	52163256	152	23926										
C12orf12	196477	hgsc.bcm.edu	37	chr12	91348068	91348068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aggagtggcgagggtggtggCgcaggccgcggcctctgcgg	22	10	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:91348068C>T	ENST00000358859.2	-	1	885	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	151																	AGGGTGGTGGCGCAGGCCGCG	0.697																																					p.R151H		Atlas-SNP	.											.	.	.	.	0			c.G452A						PASS	.						16	19	18					12																	91348068		2195	4288	6483	SO:0001583	missense	196477	exon1			TGGTGGCGCAGGC	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.452G>A	12.37:g.91348068C>T	ENSP00000351727:p.Arg151His	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	19	6	0.315789	NM_152638	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917602	0.73098	.	.	ENSG00000197651	ENST00000358859	T	0.38240	1.15	4.49	4.49	0.54785	.	0.000000	0.35040	N	0.003499	T	0.45054	0.1323	L	0.27053	0.805	0.33723	D	0.617254	D	0.89917	1.0	D	0.74348	0.983	T	0.59048	-0.7527	10	0.87932	D	0	-16.1942	12.5539	0.56242	0.0:1.0:0.0:0.0	.	151	Q8TC90	CL012_HUMAN	H	151	ENSP00000351727:R151H	ENSP00000351727:R151H	R	-	2	0	C12orf12	89872199	0.987000	0.35691	1.000000	0.80357	0.598000	0.36846	1.586000	0.36611	2.311000	0.77944	0.313000	0.20887	CGC	.	.	none		0.697	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		T	91348068	C	T	91348068	3	4	38	1	0	0	0	0	1	0	0	0	1676	768	27	1	772	1	C12orf12	12	91348068	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	9659429	91348068	42503827	153	23927										
BTG1	694	hgsc.bcm.edu	37	chr12	92539171	92539171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcgccctgctcacctgccagCagctcctgcaggctctggct	10	18	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:92539171C>T	ENST00000256015.3	-	1	502	c.141G>A	c.(139-141)ctG>ctA	p.L47L	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	47					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CACCTGCCAGCAGCTCCTGCA	0.701			T	MYC	BCLL																																p.L47L		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	.	BTG1	30	.	0			c.G141A						PASS	.						28	30	30					12																	92539171		2201	4299	6500	SO:0001819	synonymous_variant	694	exon1			TGCCAGCAGCTCC		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.141G>A	12.37:g.92539171C>T		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	110	48	0.436364	NM_001731	P31607	Silent	SNP	ENST00000256015.3	37	CCDS9043.1																																																																																			.	.	none		0.701	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			T	92539171	C	T	92539171	2	4	38	1	0	0	0	0	0	0	0	1	1553	697	25	2		2	BTG1	12	92539171	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1191103	92539171	41312724	154	23928										
ACACB	32	hgsc.bcm.edu	37	chr12	109625822	109625822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agggttttaagccgagctccGggactgtccaggaactgaat	13	9	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:109625822G>A	ENST00000338432.7	+	13	2118	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	ACACB_ENST00000377848.3_Missense_Mutation_p.G667R|ACACB_ENST00000377854.5_Missense_Mutation_p.G667R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	667	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCCGAGCTCCGGGACTGTCCA	0.493																																					p.G667R		Atlas-SNP	.											.	ACACB	330	.	0			c.G1999A						PASS	.						76	78	77					12																	109625822		2203	4300	6503	SO:0001583	missense	32	exon12			AGCTCCGGGACTG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1999G>A	12.37:g.109625822G>A	ENSP00000341044:p.Gly667Arg	Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	135	17	0.125926	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.997239	0.74818	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.81499	-1.5;-1.5;-1.5	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.049617	0.85682	D	0.000000	D	0.88862	0.6552	H	0.95043	3.615	0.80722	D	1	P	0.45672	0.864	P	0.44696	0.458	D	0.92298	0.5847	10	0.87932	D	0	.	18.6174	0.91308	0.0:0.0:1.0:0.0	.	667	O00763	ACACB_HUMAN	R	667	ENSP00000341044:G667R;ENSP00000367079:G667R;ENSP00000367085:G667R	ENSP00000341044:G667R	G	+	1	0	ACACB	108110205	1.000000	0.71417	0.448000	0.26945	0.454000	0.32378	9.778000	0.99011	2.509000	0.84616	0.531000	0.56144	GGG	.	.	none		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109625822	G	A	109625822	3	1	38	1	0	0	0	0	1	0	0	0	107	1116	39	1	2045	1	ACACB	12	109625822	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	17086651	109625822	24226073	155	23929										
FZD10	11211	hgsc.bcm.edu	37	chr12	130648918	130648918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tactggaagatcctggcggcGcagcacaagtgcaaaatgaa	12	9	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr12:130648918G>A	ENST00000229030.4	+	1	1915	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.A445T			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	477					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCTGGCGGCGCAGCACAAGT	0.547																																					p.A477A		Atlas-SNP	.											.	FZD10	95	.	0			c.G1431A						PASS	.						80	79	79					12																	130648918		2203	4300	6503	SO:0001819	synonymous_variant	11211	exon1			GGCGGCGCAGCAC	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1431G>A	12.37:g.130648918G>A		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	77	10	0.12987	NM_007197		Silent	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	7.448	0.642158	0.14451	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.98	1.95	0.26073	.	3.678390	0.02114	N	0.055040	T	0.59183	0.2175	.	.	.	0.43439	D	0.995613	.	.	.	.	.	.	T	0.53415	-0.8442	6	0.87932	D	0	.	3.0754	0.06245	0.1715:0.2875:0.4239:0.1172	.	.	.	.	T	445	.	ENSP00000438460:A445T	A	+	1	0	FZD10	129214871	0.000000	0.05858	0.884000	0.34674	0.978000	0.69477	-0.874000	0.04210	0.468000	0.27243	-0.254000	0.11334	GCA	.	.	none		0.547	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	130648918	G	A	130648918	2	1	38	1	0	0	0	0	0	0	0	1	6129	1074	38	1		1	FZD10	12	130648918	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	21023096	130648918	3202977	156	23930										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	708	8	0.0112994		WXS	Illumina HiSeq	Phase_I	675	12	0.0177778	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	38	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10		20056679	95113199	157	23931										
FLT1	2321	hgsc.bcm.edu	37	chr13	28971155	28971155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actttattggaagctatgcaAatgtagattccagaaattct	7	6	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:28971155A>C	ENST00000282397.4	-	12	1853	c.1602T>G	c.(1600-1602)atT>atG	p.I534M	FLT1_ENST00000541932.1_Missense_Mutation_p.I534M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	534	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCTATGCAAATGTAGATTC	0.408																																					p.I534M		Atlas-SNP	.											.	FLT1	393	.	0			c.T1602G						PASS	.						125	115	118					13																	28971155		2203	4300	6503	SO:0001583	missense	2321	exon12			TATGCAAATGTAG	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1602T>G	13.37:g.28971155A>C	ENSP00000282397:p.Ile534Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	90	16	0.177778	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575330	0.45902	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.36157	1.27;2.7	5.87	2.26	0.28386	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.367956	0.33272	N	0.005099	T	0.18551	0.0445	N	0.17474	0.49	0.80722	D	1	B;B;B	0.23249	0.082;0.01;0.025	B;B;B	0.15870	0.014;0.005;0.009	T	0.05533	-1.0879	10	0.29301	T	0.29	.	6.7504	0.23483	0.5627:0.0:0.4373:0.0	.	534;534;534	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	534	ENSP00000282397:I534M;ENSP00000437631:I534M	ENSP00000282397:I534M	I	-	3	3	FLT1	27869155	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.203000	0.32284	0.497000	0.27926	0.533000	0.62120	ATT	.	.	none		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28971155	A	C	28971155	3	2	38	1	0	0	0	0	1	0	0	0	5941	10	1	5	2675	5	FLT1	13	28971155	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	8914476	28971155	86198723	158	23932										
KBTBD6	89890	hgsc.bcm.edu	37	chr13	41705897	41705897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	actgggaccccgctctttggGagcagcctccagccactgca	11	16	1	0	rs150633583	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:41705897G>C	ENST00000379485.1	-	1	985	c.751C>G	c.(751-753)Ccc>Gcc	p.P251A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	251								p.P251A(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCTCTTTGGGAGCAGCCTCC	0.587													G|||	4	0.000798722	0.003	0.0	5008	,	,		19033	0.0		0.0	False		,,,				2504	0.0				p.P251A		Atlas-SNP	.											KBTBD6,trunk,malignant_melanoma,0,2	KBTBD6	83	2	1	Substitution - Missense(1)	skin(1)	c.C751G						scavenged	.	G	ALA/PRO	14,4392	19.1+/-41.9	0,14,2189	64	65	65		751	3.7	1	13	dbSNP_134	65	0,8600		0,0,4300	yes	missense	KBTBD6	NM_152903.4	27	0,14,6489	CC,CG,GG		0.0,0.3177,0.1076	benign	251/675	41705897	14,12992	2203	4300	6503	SO:0001583	missense	89890	exon1			CTTTGGGAGCAGC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.751C>G	13.37:g.41705897G>C	ENSP00000368799:p.Pro251Ala	Somatic	160	2	0.0125		WXS	Illumina HiSeq	Phase_I	113	2	0.0176991	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	3.422	-0.117976	0.06838	0.003177	0.0	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.67523	-0.27;-0.27	3.68	3.68	0.42216	BTB/Kelch-associated (2);	0.074945	0.53938	D	0.000048	T	0.51193	0.1660	L	0.31926	0.97	0.38217	D	0.940638	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.006	T	0.48328	-0.9045	10	0.08837	T	0.75	.	13.263	0.60117	0.0:0.0:1.0:0.0	.	185;251	F5GZN7;Q86V97	.;KBTB6_HUMAN	A	251;185	ENSP00000368799:P251A;ENSP00000444326:P185A	ENSP00000368799:P251A	P	-	1	0	KBTBD6	40603897	0.817000	0.29147	0.996000	0.52242	0.966000	0.64601	1.519000	0.35888	2.060000	0.61445	0.455000	0.32223	CCC	G|0.998;C|0.002	0.002	strong		0.587	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41705897	G	C	41705897	3	2	38	1	0	0	0	0	1	0	0	0	7997	1174	41	4	1277	4	KBTBD6	13	41705897	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	12734742	41705897	73463981	159	23933										
ZC3H13	23091	hgsc.bcm.edu	37	chr13	46543189	46543189	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgtctctactttttctactcGtgttctgtggcattttctgt	7	10	4	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:46543189G>A	ENST00000242848.4	-	14	3838	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1164*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R120*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1164							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1164*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTACTCGTGTTCTGTGG	0.488																																					p.R1164X	Esophageal Squamous(187;747 2077 11056 31291 44172)	Atlas-SNP	.											ZC3H13,colon,carcinoma,0,1	ZC3H13	197	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3490T						PASS	.						187	181	183					13																	46543189		2203	4300	6503	SO:0001587	stop_gained	23091	exon14			CTACTCGTGTTCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3490C>T	13.37:g.46543189G>A	ENSP00000242848:p.Arg1164*	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	94	11	0.117021	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	43	10.293987	0.99377	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.52	4.56	0.56223	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3895	0.49806	0.0:0.0:0.6178:0.3821	.	.	.	.	X	1164;120;1164	.	ENSP00000242848:R1164X	R	-	1	2	ZC3H13	45441190	0.999000	0.42202	0.964000	0.40570	0.505000	0.33919	3.399000	0.52586	2.756000	0.94617	0.655000	0.94253	CGA	.	.	none		0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		A	46543189	G	A	46543189	4	1	38	1	0	0	0	0	0	1	0	0	17562	1153	40	1	1220	1	ZC3H13	13	46543189	Nonsense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	4837292	46543189	68626689	160	23934										
LRCH1	23143	hgsc.bcm.edu	37	chr13	47224430	47224430	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tatcacaactgtatcagagtCattcctgaggccatcgttaa	7	10	3	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:47224430C>A	ENST00000389798.3	+	2	599	c.402C>A	c.(400-402)gtC>gtA	p.V134V	LRCH1_ENST00000389797.3_Silent_p.V134V|LRCH1_ENST00000311191.6_Silent_p.V134V	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	134										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTATCAGAGTCATTCCTGAGG	0.338																																					p.V134V		Atlas-SNP	.											.	LRCH1	104	.	0			c.C402A						PASS	.						90	82	85					13																	47224430		2203	4300	6503	SO:0001819	synonymous_variant	23143	exon2			CAGAGTCATTCCT	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.402C>A	13.37:g.47224430C>A		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	98	18	0.183673	NM_015116	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	CCDS31972.1																																																																																			.	.	none		0.338	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		A	47224430	C	A	47224430	2	1	38	1	0	0	0	0	0	0	0	1	8932	813	29	4		4	LRCH1	13	47224430	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	681241	47224430	67945448	161	23935										
HTR2A	3356	hgsc.bcm.edu	37	chr13	47409325	47409325	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagggccccaatgacatcctCattgcaggactctttgcaga	9	13	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:47409325C>A	ENST00000378688.4	-	3	1194	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	HTR2A_ENST00000543956.1_Nonsense_Mutation_p.E271*|HTR2A_ENST00000542664.1_Nonsense_Mutation_p.E355*			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	355					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGACATCCTCATTGCAGGAC	0.478																																					p.E355X		Atlas-SNP	.											.	HTR2A	98	.	0			c.G1063T						PASS	.						128	114	118					13																	47409325		2203	4300	6503	SO:0001587	stop_gained	3356	exon4			CATCCTCATTGCA	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1063G>T	13.37:g.47409325C>A	ENSP00000367959:p.Glu355*	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	113	17	0.150442	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Nonsense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708347	0.89018	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	.	.	.	5.86	5.02	0.67125	.	0.164517	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.4486	0.67370	0.0:0.9297:0.0:0.0703	.	.	.	.	X	355;271;355	.	ENSP00000367959:E355X	E	-	1	0	HTR2A	46307326	0.002000	0.14202	0.220000	0.23810	0.682000	0.39822	0.639000	0.24690	1.630000	0.50440	0.650000	0.86243	GAG	.	.	none		0.478	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		A	47409325	C	A	47409325	4	1	38	1	0	0	0	0	0	1	0	0	7441	835	29	4	356	4	HTR2A	13	47409325	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	184895	47409325	67760553	162	23936										
PCDH9	5101	hgsc.bcm.edu	37	chr13	67205459	67205459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgagatcagggttccactacCcaccggctcatggtctccta	9	14	3	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:67205459C>A	ENST00000377865.2	-	3	3357	c.3223G>T	c.(3223-3225)Ggt>Tgt	p.G1075C	PCDH9_ENST00000456367.1_Missense_Mutation_p.G1041C|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1041C|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1075C			Q9HC56	PCDH9_HUMAN	protocadherin 9	1075					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTCCACTACCCACCGGCTCA	0.552																																					p.G1075C		Atlas-SNP	.											PCDH9,NS,carcinoma,+1,1	PCDH9	252	1	0			c.G3223T						PASS	.						129	111	117					13																	67205459		2203	4300	6503	SO:0001583	missense	5101	exon4			CACTACCCACCGG	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3223G>T	13.37:g.67205459C>A	ENSP00000367096:p.Gly1075Cys	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	70	25	0.357143	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857443	0.91433	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.56776	0.54;0.54;0.44;0.44	5.63	5.63	0.86233	.	0.175226	0.28403	N	0.015463	T	0.68293	0.2985	L	0.47190	1.495	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.947	T	0.69277	-0.5187	10	0.72032	D	0.01	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	1041;1075	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	C	1075;1075;1041;1041	ENSP00000442186:G1075C;ENSP00000367096:G1075C;ENSP00000401699:G1041C;ENSP00000332060:G1041C	ENSP00000332060:G1041C	G	-	1	0	PCDH9	66103460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.652000	0.90054	0.655000	0.94253	GGT	.	.	none		0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67205459	C	A	67205459	3	1	38	1	0	0	0	0	1	0	0	0	11518	623	22	4	498	4	PCDH9	13	67205459	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	19796134	67205459	47964419	163	23937										
SLITRK1	114798	hgsc.bcm.edu	37	chr13	84454325	84454325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagccccgcgaatttctcccGggacagcgtgtccaggtaat	11	14	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:84454325G>A	ENST00000377084.2	-	1	2203	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	440					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.R440R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATTTCTCCCGGGACAGCGTG	0.502																																					p.R440W		Atlas-SNP	.											SLITRK1,NS,carcinoma,0,1	SLITRK1	196	1	1	Substitution - coding silent(1)	lung(1)	c.C1318T						scavenged	.						122	115	118					13																	84454325		2203	4300	6503	SO:0001583	missense	114798	exon1			TCTCCCGGGACAG	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1318C>T	13.37:g.84454325G>A	ENSP00000366288:p.Arg440Trp	Somatic	107	1	0.00934579		WXS	Illumina HiSeq	Phase_I	84	32	0.380952	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493804	0.44352	.	.	ENSG00000178235	ENST00000377084	T	0.57436	0.4	5.22	5.22	0.72569	.	0.138450	0.49305	D	0.000152	T	0.61502	0.2352	L	0.45581	1.43	0.51482	D	0.99992	D	0.57899	0.981	P	0.54629	0.757	T	0.64875	-0.6304	10	0.87932	D	0	-11.4904	17.693	0.88273	0.0:0.0:1.0:0.0	.	440	Q96PX8	SLIK1_HUMAN	W	440	ENSP00000366288:R440W	ENSP00000366288:R440W	R	-	1	2	SLITRK1	83352326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.086000	0.64474	2.603000	0.88011	0.655000	0.94253	CGG	.	.	none		0.502	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454325	G	A	84454325	3	1	38	1	0	0	0	0	1	0	0	0	14742	1115	39	1	776	1	SLITRK1	13	84454325	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	17248866	84454325	30715553	164	23938										
FARP1	10160	hgsc.bcm.edu	37	chr13	99091388	99091388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acgtcctgctatacacgagcCgggggctgacggcctccaat	12	14	0	1	rs142251812		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:99091388C>T	ENST00000319562.6	+	21	2636	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	FARP1_ENST00000376586.2_Missense_Mutation_p.R822W|FARP1_ENST00000595437.1_Missense_Mutation_p.R822W	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	791	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R791W(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATACACGAGCCGGGGGCTGAC	0.592																																					p.R791W		Atlas-SNP	.											FARP1,scalp,carcinoma,0,1	FARP1	207	1	1	Substitution - Missense(1)	skin(1)	c.C2371T						PASS	.	C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	163	158	160		2371	-3.3	0.9	13	dbSNP_134	160	0,8600		0,0,4300	no	missense	FARP1	NM_005766.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	791/1046	99091388	2,13004	2203	4300	6503	SO:0001583	missense	10160	exon21			ACGAGCCGGGGGC	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2371C>T	13.37:g.99091388C>T	ENSP00000322926:p.Arg791Trp	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	89	32	0.359551	NM_005766	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703907	0.48412	4.54E-4	0.0	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75821	-0.97;-0.97	5.57	-3.34	0.04943	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067341	0.64402	D	0.000018	D	0.84933	0.5582	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.86106	0.1559	10	0.87932	D	0	.	18.5771	0.91159	0.7275:0.2725:0.0:0.0	.	791;822	Q9Y4F1;C9JME2	FARP1_HUMAN;.	W	822;791	ENSP00000365771:R822W;ENSP00000322926:R791W	ENSP00000322926:R791W	R	+	1	2	FARP1	97889389	1.000000	0.71417	0.857000	0.33713	0.044000	0.14063	1.152000	0.31663	-0.545000	0.06224	-0.262000	0.10625	CGG	C|1.000;T|0.000	0.000	weak		0.592	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	99091388	C	T	99091388	3	4	38	1	0	0	0	0	1	0	0	0	5676	643	23	1	2672	1	FARP1	13	99091388	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	14637063	99091388	16078490	165	23939										
CDC16	8881	hgsc.bcm.edu	37	chr13	115004951	115004951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	atccttccagcgactgggaaAtgtcacagtcttcagtaagt	9	10	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr13:115004951A>T	ENST00000356221.3	+	5	475	c.367A>T	c.(367-369)Atg>Ttg	p.M123L	CDC16_ENST00000252457.5_Missense_Mutation_p.M122L|CDC16_ENST00000375312.3_Missense_Mutation_p.M29L|CDC16_ENST00000252458.6_Missense_Mutation_p.M29L|CDC16_ENST00000375310.1_Missense_Mutation_p.M29L|CDC16_ENST00000360383.3_Missense_Mutation_p.M123L|CDC16_ENST00000375308.1_Missense_Mutation_p.M29L			Q13042	CDC16_HUMAN	cell division cycle 16	123					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CGACTGGGAAATGTCACAGTC	0.418																																					p.M123L		Atlas-SNP	.											.	CDC16	50	.	0			c.A367T						PASS	.						39	43	42					13																	115004951		2203	4300	6503	SO:0001583	missense	8881	exon5			TGGGAAATGTCAC	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.367A>T	13.37:g.115004951A>T	ENSP00000348554:p.Met123Leu	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	106	19	0.179245	NM_003903	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	A	6.976	0.550066	0.13374	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	5.73	3.32	0.38043	Tetratricopeptide-like helical (1);	0.110567	0.85682	D	0.000000	T	0.37461	0.1004	N	0.19112	0.55	0.43168	D	0.994969	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.09058	-1.0692	8	.	.	.	-28.7507	9.0916	0.36614	0.7929:0.0:0.2071:0.0	.	123;122;122;123	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	L	123;29;123;29;122;29;29	.	.	M	+	1	0	CDC16	114023053	1.000000	0.71417	0.801000	0.32222	0.154000	0.21943	5.567000	0.67378	0.457000	0.26962	-0.376000	0.06991	ATG	.	.	none		0.418	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115004951	A	T	115004951	3	4	38	1	0	0	0	0	1	0	0	0	3058	101	4	5	385	5	CDC16	13	115004951	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	15913563	115004951	164927	166	23940										
C14orf21	161424	hgsc.bcm.edu	37	chr14	24771450	24771450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtccctagtcccctactgctAtttctccgagatcagacgag	8	14	2	2	rs182491838		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:24771450A>G	ENST00000267425.3	+	5	1056	c.963A>G	c.(961-963)ctA>ctG	p.L321L	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Silent_p.L321L|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	321							poly(A) RNA binding (GO:0044822)										CCCTACTGCTATTTCTCCGAG	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		21836	0.0		0.001	False		,,,				2504	0.0				p.L321L		Atlas-SNP	.											.	.	.	.	0			c.A963G						PASS	.						278	276	277					14																	24771450		2203	4300	6503	SO:0001819	synonymous_variant	161424	exon5			ACTGCTATTTCTC		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.963A>G	14.37:g.24771450A>G		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	47	18	0.382979	NM_174913	A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	CCDS9624.1																																																																																			A|1.000;G|0.000	0.000	strong		0.522	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			G	24771450	A	G	24771450	2	3	38	1	0	0	0	0	0	0	0	1	1769	436	16	2		2	C14orf21	14	24771450	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10		24771450	82578090	167	23941										
SYNE2	23224	hgsc.bcm.edu	37	chr14	64519861	64519861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaaagctcctgatagctctcCggaaagcagacggctcaatg	10	11	2	2	rs200742016	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:64519861C>T	ENST00000344113.4	+	48	9442	c.9230C>T	c.(9229-9231)cCg>cTg	p.P3077L	SYNE2_ENST00000358025.3_Missense_Mutation_p.P3077L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P3110L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3077					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAGCTCTCCGGAAAGCAGA	0.338													C|||	4	0.000798722	0.0	0.0014	5008	,	,		18796	0.0		0.002	False		,,,				2504	0.001				p.P3077L		Atlas-SNP	.											SYNE2,NS,carcinoma,-1,1	SYNE2	577	1	0			c.C9230T						scavenged	.	C	LEU/PRO,LEU/PRO	4,3616		0,4,1806	46	45	45		9230,9230	4.8	0.5	14	dbSNP_134	45	16,8132		0,16,4058	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	98,98	0,20,5864	TT,TC,CC		0.1964,0.1105,0.17	possibly-damaging,possibly-damaging	3077/6886,3077/6908	64519861	20,11748	1810	4074	5884	SO:0001583	missense	23224	exon48			GCTCTCCGGAAAG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9230C>T	14.37:g.64519861C>T	ENSP00000341781:p.Pro3077Leu	Somatic	408	0	0		WXS	Illumina HiSeq	Phase_I	488	5	0.0102459	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	8.986	0.976576	0.18736	0.001105	0.001964	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58210	0.74;0.74;0.35	5.69	4.8	0.61643	.	0.000000	0.56097	D	0.000025	T	0.49474	0.1559	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.51582	0.674;0.661	T	0.39187	-0.9626	10	0.22109	T	0.4	.	14.4958	0.67685	0.1468:0.8532:0.0:0.0	.	3077;3077	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3077;3077;3110;3110	ENSP00000350719:P3077L;ENSP00000341781:P3077L;ENSP00000452570:P3110L	ENSP00000261678:P3110L	P	+	2	0	SYNE2	63589614	0.728000	0.28080	0.505000	0.27651	0.011000	0.07611	3.490000	0.53245	1.397000	0.46682	0.462000	0.41574	CCG	C|0.999;T|0.001	0.001	strong		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64519861	C	T	64519861	3	4	38	1	0	0	0	0	1	0	0	0	15443	652	23	1	9416	1	SYNE2	14	64519861	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	39748411	64519861	42829679	168	23942										
FUT8	2530	hgsc.bcm.edu	37	chr14	66209049	66209049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caacaggaaattgggaaggaCgggcctatatccctcctaca	10	11	0	0	rs149328619	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:66209049C>A	ENST00000360689.5	+	11	3376	c.1649C>A	c.(1648-1650)aCg>aAg	p.T550K	FUT8_ENST00000394586.2_Missense_Mutation_p.T550K|FUT8_ENST00000394585.1_Missense_Mutation_p.T550K|FUT8_ENST00000358307.2_Missense_Mutation_p.T421K|FUT8_ENST00000417683.1_Missense_Mutation_p.T144K|FUT8_ENST00000557164.1_Missense_Mutation_p.T387K	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	550	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGAAGGACGGGCCTATAT	0.443																																					p.T550K		Atlas-SNP	.											.	FUT8	101	.	0			c.C1649A						PASS	.						77	77	77					14																	66209049		2203	4300	6503	SO:0001583	missense	2530	exon11			GAAGGACGGGCCT	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1649C>A	14.37:g.66209049C>A	ENSP00000353910:p.Thr550Lys	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	147	6	0.0408163	NM_178155	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406205	0.25378	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.04	5.16	0.70880	Src homology-3 domain (2);	0.043935	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31157	0.91	0.80722	D	1	P;P;P	0.38420	0.595;0.587;0.63	B;B;B	0.34931	0.122;0.051;0.192	T	0.10590	-1.0623	10	0.07175	T	0.84	-5.1746	13.1167	0.59303	0.0:0.9232:0.0:0.0768	.	144;421;550	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	K	550;550;387;550;421;144	ENSP00000353910:T550K;ENSP00000378087:T550K;ENSP00000452433:T387K;ENSP00000378086:T550K;ENSP00000351057:T421K;ENSP00000396770:T144K	ENSP00000351057:T421K	T	+	2	0	FUT8	65278802	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.089000	0.71384	1.578000	0.49821	-0.253000	0.11424	ACG	C|0.999;T|0.001	.	alt		0.443	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		A	66209049	C	A	66209049	3	1	38	1	0	0	0	0	1	0	0	0	6110	536	19	4	1782	4	FUT8	14	66209049	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1689188	66209049	41140491	169	23943										
GPHN	10243	hgsc.bcm.edu	37	chr14	67147830	67147830	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cccatttctatttagtgagtGatagttgcttcaggaatctt	8	7	3	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:67147830G>T	ENST00000315266.5	+	2	1191	c.70G>T	c.(70-72)Gat>Tat	p.D24Y	GPHN_ENST00000478722.1_Missense_Mutation_p.D24Y|GPHN_ENST00000459628.1_Missense_Mutation_p.D24Y|GPHN_ENST00000305960.9_Missense_Mutation_p.D24Y|GPHN_ENST00000543237.1_Missense_Mutation_p.D24Y	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	24	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)		TTTAGTGAGTGATAGTTGCTT	0.323			T	MLL	AL																																p.D24Y		Atlas-SNP	.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	GPHN	79	.	0			c.G70T						PASS	.						74	76	75					14																	67147830		2203	4300	6503	SO:0001583	missense	10243	exon2			GTGAGTGATAGTT	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.70G>T	14.37:g.67147830G>T	ENSP00000312771:p.Asp24Tyr	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	114	18	0.157895	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890906	0.52014	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.11	5.11	0.69529	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	H	0.96748	3.875	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;1.0;0.997;0.999;1.0	D	0.95993	0.8987	10	0.87932	D	0	-7.1651	16.0118	0.80409	0.0:0.0:1.0:0.0	.	24;24;24;24;24	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	Y	24	ENSP00000312771:D24Y;ENSP00000417901:D24Y;ENSP00000452220:D24Y;ENSP00000438404:D24Y;ENSP00000303019:D24Y	ENSP00000303019:D24Y	D	+	1	0	GPHN	66217583	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.659000	0.91116	2.374000	0.81015	0.579000	0.79373	GAT	.	.	none		0.323	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		T	67147830	G	T	67147830	3	4	38	1	0	0	0	0	1	0	0	0	6610	1290	45	4	76	4	GPHN	14	67147830	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	938781	67147830	40201710	170	23944										
PCNX	22990	hgsc.bcm.edu	37	chr14	71500228	71500228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agtgtcttaccatctcagccGacaaagcagtgatccatctg	8	12	3	1	rs201430424		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:71500228G>A	ENST00000304743.2	+	17	4087	c.3641G>A	c.(3640-3642)cGa>cAa	p.R1214Q	PCNX_ENST00000439984.3_Missense_Mutation_p.R1103Q|PCNX_ENST00000238570.5_Missense_Mutation_p.R1214Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1214						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATCTCAGCCGACAAAGCAGT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		15772	0.001		0.0	False		,,,				2504	0.0				p.R1214Q		Atlas-SNP	.											.	PCNX	198	.	0			c.G3641A						PASS	.						149	132	138					14																	71500228		2203	4300	6503	SO:0001583	missense	22990	exon17			TCAGCCGACAAAG	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3641G>A	14.37:g.71500228G>A	ENSP00000304192:p.Arg1214Gln	Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	154	38	0.246753	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	34|34	5.349420|5.349420	0.95830|0.95830	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.21361	.|2.3;2.18;2.01	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.057498	.|0.64402	.|D	.|0.000001	T|T	0.55146|0.55146	0.1902|0.1902	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.987;0.999	.|D;P;D	.|0.75484	.|0.986;0.746;0.978	T|T	0.60747|0.60747	-0.7202|-0.7202	5|10	.|0.72032	.|D	.|0.01	.|.	19.8731|19.8731	0.96858|0.96858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1214;1103;1214	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	N|Q	273|1214;1214;1103	.|ENSP00000304192:R1214Q;ENSP00000238570:R1214Q;ENSP00000396617:R1103Q	.|ENSP00000238570:R1214Q	D|R	+|+	1|2	0|0	PCNX|PCNX	70569981|70569981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.148000|9.148000	0.94652|0.94652	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GAC|CGA	G|1.000;A|0.000	0.000	strong		0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71500228	G	A	71500228	3	1	38	1	0	0	0	0	1	0	0	0	11591	1058	37	1	3707	1	PCNX	14	71500228	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	4352398	71500228	35849312	171	23945										
ACOT1	641371	hgsc.bcm.edu	37	chr14	74008216	74008216	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gaacctgggccctttcctggCattgtggacatgttcggaac	12	11	0	0	rs201966235	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:74008216C>G	ENST00000311148.4	+	2	785	c.477C>G	c.(475-477)ggC>ggG	p.G159G	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.G159G	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	159					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.G159G(1)		endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCTTTCCTGGCATTGTGGACA	0.463													-|||	62	0.0123802	0.0257	0.0115	5008	,	,		11074	0.002		0.0139	False		,,,				2504	0.0041				p.G159G		Atlas-SNP	.											ACOT1,NS,carcinoma,0,1	ACOT1	12	1	1	Substitution - coding silent(1)	endometrium(1)	c.C477G						scavenged	.						170	130	144					14																	74008216		1974	3593	5567	SO:0001819	synonymous_variant	641371	exon2			TCCTGGCATTGTG	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.477C>G	14.37:g.74008216C>G		Somatic	3	1	0.333333		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001037161	A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	CCDS32117.1																																																																																			C|0.785;G|0.215	0.215	strong		0.463	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		G	74008216	C	G	74008216	2	3	38	1	0	0	0	0	0	0	0	1	148	697	25	4		4	ACOT1	14	74008216	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2507988	74008216	33341324	172	23946										
LTBP2	4053	hgsc.bcm.edu	37	chr14	74970174	74970174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acgctcaggcccactcacccGtgctgctggtgctgttcatg	11	15	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:74970174G>A	ENST00000261978.4	-	32	5104	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M	LTBP2_ENST00000556690.1_Missense_Mutation_p.T1529M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1573					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCACTCACCCGTGCTGCTGGT	0.677																																					p.T1573M		Atlas-SNP	.											.	LTBP2	158	.	0			c.C4718T						PASS	.						42	36	38					14																	74970174		2202	4300	6502	SO:0001583	missense	4053	exon32			TCACCCGTGCTGC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4718C>T	14.37:g.74970174G>A	ENSP00000261978:p.Thr1573Met	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	9	0.209302	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.194	0.221357	0.09863	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78924	-1.22;-1.22	4.86	-6.15	0.02105	.	2.988510	0.01279	N	0.009675	T	0.68961	0.3058	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.57015	-0.7883	10	0.45353	T	0.12	.	14.329	0.66541	0.6899:0.0:0.3101:0.0	.	1573	Q14767	LTBP2_HUMAN	M	1573;1529	ENSP00000261978:T1573M;ENSP00000451477:T1529M	ENSP00000261978:T1573M	T	-	2	0	LTBP2	74039927	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-0.517000	0.06275	-1.200000	0.02662	-0.224000	0.12420	ACG	.	.	none		0.677	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74970174	G	A	74970174	3	1	38	1	0	0	0	0	1	0	0	0	9074	1145	40	1	767	1	LTBP2	14	74970174	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	961958	74970174	32379366	173	23947										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctgctgctgctgctgctgcTgttgctgctgctgctgctgc					rs377151545|rs28718623|rs71125518	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.7																																					p.115_115del		Atlas-Indel	.											.	IRF2BPL	40	.	0			c.343_345del						PASS	.			1119,1147		390,339,404						-1.3	0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				SO:0001651	inframe_deletion	64207	exon1			.	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del	Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	15	10	0.666667	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	weak		0.7	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		-	77493794	TGT	-	77493792	7	5	38	1	0	1	0	1	0	0	0	0	1773	1580	55	0	2050	0	C14orf4	14	77493792	In_Frame_Del	DEL	TGT	TCGA-RQ-A68N-01A-11D-A31X-10	2523618	77493792	29855748	174	23948										
POMT2	29954	hgsc.bcm.edu	37	chr14	77762563	77762563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtgcctgtgggagtgcagatAgccgatggccatccggaggt	17	9	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:77762563A>G	ENST00000261534.4	-	9	1262	c.1060T>C	c.(1060-1062)Tat>Cat	p.Y354H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	354	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAGTGCAGATAGCCGATGGCC	0.602																																					p.Y354H		Atlas-SNP	.											.	POMT2	47	.	0			c.T1060C						PASS	.						99	67	78					14																	77762563		2203	4300	6503	SO:0001583	missense	29954	exon9			GCAGATAGCCGAT	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1060T>C	14.37:g.77762563A>G	ENSP00000261534:p.Tyr354His	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	51	7	0.137255	NM_013382	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753167	0.69648	.	.	ENSG00000009830	ENST00000261534	D	0.88509	-2.39	4.98	4.98	0.66077	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.88842	2.985	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95884	0.8901	10	0.87932	D	0	-7.1602	14.6543	0.68823	1.0:0.0:0.0:0.0	.	354	Q9UKY4	POMT2_HUMAN	H	354	ENSP00000261534:Y354H	ENSP00000261534:Y354H	Y	-	1	0	POMT2	76832316	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	9.179000	0.94861	1.859000	0.53934	0.379000	0.24179	TAT	.	.	none		0.602	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		G	77762563	A	G	77762563	3	3	38	1	0	0	0	0	1	0	0	0	12246	420	15	3	1244	3	POMT2	14	77762563	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	268771	77762563	29586977	175	23949										
NRXN3	9369	hgsc.bcm.edu	37	chr14	79432416	79432416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggagttccacaacattgaaaCgggaatcatgactgagaaac	10	8	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:79432416C>T	ENST00000554719.1	+	9	1816	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	NRXN3_ENST00000335750.5_Missense_Mutation_p.T442M	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	211					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACATTGAAACGGGAATCATG	0.433																																					p.T442M		Atlas-SNP	.											.	NRXN3	342	.	0			c.C1325T						PASS	.						117	104	108					14																	79432416		2203	4300	6503	SO:0001583	missense	9369	exon9			TTGAAACGGGAAT	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1325C>T	14.37:g.79432416C>T	ENSP00000451648:p.Thr442Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	87	17	0.195402	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752562	0.69533	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78246	-1.16;-1.16	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87752	0.2592	8	.	.	.	.	19.3296	0.94280	0.0:1.0:0.0:0.0	.	815;442	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	M	815;804;442;442	ENSP00000451648:T442M;ENSP00000338349:T442M	.	T	+	2	0	NRXN3	78502169	1.000000	0.71417	0.951000	0.38953	0.381000	0.30169	7.609000	0.82925	2.873000	0.98535	0.563000	0.77884	ACG	.	.	none		0.433	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		T	79432416	C	T	79432416	3	4	38	1	0	0	0	0	1	0	0	0	10667	536	19	1	1351	1	NRXN3	14	79432416	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1669853	79432416	27917124	176	23950										
DDX24	57062	hgsc.bcm.edu	37	chr14	94545834	94545834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gactttccctcctcctcctcCtcttcttctgaaacagcttg	4	17	3	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:94545834C>T	ENST00000330836.5	-	2	386	c.255G>A	c.(253-255)gaG>gaA	p.E85E	IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|DDX24_ENST00000555054.1_Silent_p.E42E|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	85	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCTCCTCCTCCTCTTCTTCTG	0.438																																					p.E85E		Atlas-SNP	.											DDX24,NS,carcinoma,-2,1	DDX24	82	1	0			c.G255A						scavenged	.						165	161	163					14																	94545834		2203	4300	6503	SO:0001819	synonymous_variant	57062	exon2			CTCCTCCTCTTCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.255G>A	14.37:g.94545834C>T		Somatic	69	1	0.0144928		WXS	Illumina HiSeq	Phase_I	91	4	0.043956	NM_020414	E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																			.	.	none		0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		T	94545834	C	T	94545834	2	4	38	1	0	0	0	0	0	0	0	1	4351	680	24	2		2	DDX24	14	94545834	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	15113418	94545834	12803706	177	23951										
BCL11B	64919	hgsc.bcm.edu	37	chr14	99640652	99640652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cccgtgcgtcttcatgtggcGcgtgagcttgctgctctgcg	14	13	3	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr14:99640652G>A	ENST00000357195.3	-	4	2530	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	BCL11B_ENST00000345514.2_Missense_Mutation_p.R770C|BCL11B_ENST00000443726.2_Missense_Mutation_p.R647C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	841					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCATGTGGCGCGTGAGCTTG	0.622			T	TLX3	T-ALL																																p.R841C		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,NS,carcinoma,+1,2	BCL11B	108	2	0			c.C2521T						PASS	.						78	62	68					14																	99640652		2203	4300	6503	SO:0001583	missense	64919	exon4			TGTGGCGCGTGAG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2521C>T	14.37:g.99640652G>A	ENSP00000349723:p.Arg841Cys	Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	25	6	0.24	NM_138576	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343578	0.82022	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07688	3.17;3.17;3.17	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.318118	0.23997	N	0.042508	T	0.24431	0.0592	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01033	-1.1474	10	0.72032	D	0.01	-19.448	17.9731	0.89119	0.0:0.0:1.0:0.0	.	770;841	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	C	841;770;647	ENSP00000349723:R841C;ENSP00000280435:R770C;ENSP00000387419:R647C	ENSP00000280435:R770C	R	-	1	0	BCL11B	98710405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.331000	0.79229	0.462000	0.41574	CGC	.	.	none		0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99640652	G	A	99640652	3	1	38	1	0	0	0	0	1	0	0	0	1364	1087	38	1	167	1	BCL11B	14	99640652	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5094818	99640652	7708888	178	23952										
GOLGA8A	23015	hgsc.bcm.edu	37	chr15	34676192	34676192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgtcctttcagcagtatctgCtcccgtatggactgctctaa	8	12	3	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:34676192C>T	ENST00000359187.4	-	8	688	c.624G>A	c.(622-624)gaG>gaA	p.E208E	GOLGA8A_ENST00000432566.2_Silent_p.E238E|GOLGA8A_ENST00000360553.3_Silent_p.E208E|GOLGA8A_ENST00000543376.1_Silent_p.E65E|MIR1233-1_ENST00000408722.1_RNA	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	236						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTATCTGCTCCCGTATGG	0.562																																					p.E208E		Atlas-SNP	.											GOLGA8A,NS,carcinoma,0,1	GOLGA8A	8	1	0			c.G624A						scavenged	.						1	1	1					15																	34676192		819	2154	2973	SO:0001819	synonymous_variant	23015	exon8			TATCTGCTCCCGT	BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.624G>A	15.37:g.34676192C>T		Somatic	183	51	0.278689		WXS	Illumina HiSeq	Phase_I	179	41	0.22905	NM_181077	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Silent	SNP	ENST00000359187.4	37	CCDS10038.1																																																																																			.	.	none		0.562	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251830.2	NM_181076		T	34676192	C	T	34676192	2	4	38	1	0	0	0	0	0	0	0	1	6563	796	28	2		2	GOLGA8A	15	34676192	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		34676192	67855200	179	23953										
USP3	9960	hgsc.bcm.edu	37	chr15	63829314	63829314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gaaaagcaagataaagttcaGcacacagtatgtatggattg	10	5	1	1	rs567231691	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:63829314G>T	ENST00000380324.3	+	3	372	c.243G>T	c.(241-243)caG>caT	p.Q81H	USP3_ENST00000536001.1_Missense_Mutation_p.Q81H|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000558285.1_Missense_Mutation_p.Q64H|USP3_ENST00000268049.7_Missense_Mutation_p.Q59H	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	81					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATAAAGTTCAGCACACAGTAT	0.368																																					p.Q81H		Atlas-SNP	.											.	USP3	37	.	0			c.G243T						PASS	.						121	93	102					15																	63829314		2203	4300	6503	SO:0001583	missense	9960	exon3			AGTTCAGCACACA	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.243G>T	15.37:g.63829314G>T	ENSP00000369681:p.Gln81His	Somatic	311	0	0		WXS	Illumina HiSeq	Phase_I	278	97	0.348921	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780649	0.31502	.	.	ENSG00000140455	ENST00000380324;ENST00000268049;ENST00000536001	T;T;T	0.30448	1.53;1.53;1.53	5.73	2.82	0.32997	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.051593	0.85682	D	0.000000	T	0.23965	0.0580	L	0.37507	1.11	0.80722	D	1	B;B	0.24258	0.026;0.1	B;B	0.23419	0.037;0.046	T	0.07065	-1.0792	10	0.51188	T	0.08	.	10.8979	0.47034	0.2634:0.0:0.7366:0.0	.	59;81	Q6JHV3;Q9Y6I4	.;UBP3_HUMAN	H	81;59;81	ENSP00000369681:Q81H;ENSP00000268049:Q59H;ENSP00000445615:Q81H	ENSP00000268049:Q59H	Q	+	3	2	USP3	61616367	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.505000	0.35736	0.891000	0.36235	-0.150000	0.13652	CAG	.	.	none		0.368	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			T	63829314	G	T	63829314	3	4	38	1	0	0	0	0	1	0	0	0	17057	962	34	4	253	4	USP3	15	63829314	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	29153122	63829314	38702078	180	23954										
C15orf39	56905	hgsc.bcm.edu	37	chr15	75500343	75500343	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctctgtggccttcatgttcCgaaagttcaagatcctccgt	9	12	3	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:75500343C>T	ENST00000360639.2	+	2	2274	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	C15orf39_ENST00000567617.1_Nonsense_Mutation_p.R652*|C15orf39_ENST00000394987.4_Nonsense_Mutation_p.R652*			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	652						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTTCATGTTCCGAAAGTTCAA	0.602																																					p.R652X		Atlas-SNP	.											.	C15orf39	64	.	0			c.C1954T						PASS	.						99	85	90					15																	75500343		2197	4295	6492	SO:0001587	stop_gained	56905	exon2			ATGTTCCGAAAGT	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1954C>T	15.37:g.75500343C>T	ENSP00000353854:p.Arg652*	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	60	19	0.316667	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Nonsense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	42	9.497434	0.99187	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	.	.	.	5.64	3.67	0.42095	.	0.378991	0.25701	N	0.028880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1494	8.5421	0.33399	0.3109:0.5386:0.1506:0.0	.	.	.	.	X	652;652;50	.	ENSP00000353854:R652X	R	+	1	2	C15orf39	73287396	0.996000	0.38824	0.974000	0.42286	0.996000	0.88848	1.192000	0.32150	0.667000	0.31107	0.655000	0.94253	CGA	.	.	none		0.602	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		T	75500343	C	T	75500343	4	4	38	1	0	0	0	0	0	1	0	0	1793	644	23	1	1956	1	C15orf39	15	75500343	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	11671029	75500343	27031049	181	23955										
KIAA1199	57214	hgsc.bcm.edu	37	chr15	81188310	81188310	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaacctggagataccctggtCattgccagtactgattactc	8	11	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:81188310C>T	ENST00000394685.3	+	12	1739	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	KIAA1199_ENST00000220244.3_Silent_p.V440V|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.V440V			Q8WUJ3	CEMIP_HUMAN		440	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATACCCTGGTCATTGCCAGTA	0.507																																					p.V440V		Atlas-SNP	.											.	KIAA1199	118	.	0			c.C1320T						PASS	.						164	138	147					15																	81188310		2203	4300	6503	SO:0001819	synonymous_variant	57214	exon11			CCTGGTCATTGCC																												ENST00000394685.3:c.1320C>T	15.37:g.81188310C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	118	30	0.254237	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.	.	none		0.507	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81188310	C	T	81188310	2	4	38	1	0	0	0	0	0	0	0	1	8213	813	29	2		2	KIAA1199	15	81188310	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	5687967	81188310	21343082	182	23956										
WHAMM	123720	hgsc.bcm.edu	37	chr15	83499809	83499809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctgagcgaccacgtgactcCttggaaagtttttcatgtcc	10	11	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:83499809C>T	ENST00000286760.4	+	9	2199	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	700	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CACGTGACTCCTTGGAAAGTT	0.498																																					p.S700S		Atlas-SNP	.											.	WHAMM	63	.	0			c.C2100T						PASS	.						113	119	117					15																	83499809		2165	4279	6444	SO:0001819	synonymous_variant	123720	exon9			TGACTCCTTGGAA	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2100C>T	15.37:g.83499809C>T		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	17	7	0.411765	NM_001080435	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																			.	.	none		0.498	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			T	83499809	C	T	83499809	2	4	38	1	0	0	0	0	0	0	0	1	17358	668	24	2		2	WHAMM	15	83499809	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2311499	83499809	19031583	183	23957										
BNC1	646	hgsc.bcm.edu	37	chr15	83932823	83932823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccttagggagctgaacaccaTgttacacccttcgatggtgc	10	12	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:83932823T>A	ENST00000345382.2	-	4	1265	c.1180A>T	c.(1180-1182)Atg>Ttg	p.M394L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.M387L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	394					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTGAACACCATGTTACACCCT	0.507																																					p.M394L		Atlas-SNP	.											.	BNC1	149	.	0			c.A1180T						PASS	.						156	142	147					15																	83932823		2203	4300	6503	SO:0001583	missense	646	exon4			ACACCATGTTACA	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1180A>T	15.37:g.83932823T>A	ENSP00000307041:p.Met394Leu	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	124	33	0.266129	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455053	0.84209	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.26810	1.71	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.078751	0.85682	D	0.000000	T	0.54431	0.1858	M	0.80183	2.485	0.80722	D	1	D;P	0.59357	0.985;0.882	D;P	0.74674	0.984;0.858	T	0.59878	-0.7371	10	0.87932	D	0	-37.7656	16.0707	0.80928	0.0:0.0:0.0:1.0	.	387;394	F5GY04;Q01954	.;BNC1_HUMAN	L	394;387	ENSP00000307041:M394L	ENSP00000307041:M394L	M	-	1	0	BNC1	81723827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.194000	0.70268	0.533000	0.62120	ATG	.	.	none		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		A	83932823	T	A	83932823	3	1	38	1	0	0	0	0	1	0	0	0	1474	1464	51	5	1812	5	BNC1	15	83932823	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	433014	83932823	18598569	184	23958										
ARRDC4	91947	hgsc.bcm.edu	37	chr15	98504326	98504326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcccccgcgcctcggccagcAccgcggccctggctgtcttc	12	21	1	0	rs12101554	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr15:98504326A>G	ENST00000268042.6	+	1	399	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	79			T -> A (in dbSNP:rs12101554). {ECO:0000269|PubMed:15489334}.		positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CTCGGCCAGCACCGCGGCCCT	0.786													g|||	3817	0.762181	0.5976	0.7118	5008	,	,		7745	0.88		0.7485	False		,,,				2504	0.9131				p.T79A		Atlas-SNP	.											.	ARRDC4	30	.	0			c.A235G						PASS	.		ALA/THR	934,448		327,280,84	1	1	1		235	0.8	0	15	dbSNP_120	1	2287,687		920,447,120	no	missense	ARRDC4	NM_183376.2	58	1247,727,204	GG,GA,AA		23.1002,32.4168,26.056	benign	79/419	98504326	3221,1135	691	1487	2178	SO:0001583	missense	91947	exon1			GCCAGCACCGCGG	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.235A>G	15.37:g.98504326A>G	ENSP00000268042:p.Thr79Ala	Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	8	7	0.875	NM_183376	Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	CCDS10377.1	1613	0.7385531135531136	289	0.5873983739837398	255	0.7044198895027625	512	0.8951048951048951	557	0.7348284960422163	g	3.442	-0.113882	0.06881	0.675832	0.768998	ENSG00000140450	ENST00000268042	T	0.07567	3.18	4.08	0.777	0.18538	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.46222	P	0.0010670000000000401	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.02654	T	1	-4.3851	2.5111	0.04657	0.2812:0.0:0.3307:0.3881	rs12101554;rs17845860;rs17858835;rs57152335	79	Q8NCT1	ARRD4_HUMAN	A	79	ENSP00000268042:T79A	ENSP00000268042:T79A	T	+	1	0	ARRDC4	96305330	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	-0.193000	0.09573	0.288000	0.22398	-0.370000	0.07254	ACC	A|0.263;G|0.737	0.737	strong		0.786	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		G	98504326	A	G	98504326	3	3	38	1	0	0	0	0	1	0	0	0	985	159	6	2	237	2	ARRDC4	15	98504326	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	14571503	98504326	4027066	185	23959										
NARFL	64428	hgsc.bcm.edu	37	chr16	787323	787323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cttctccagcctccgggtccCgccgtcctacaagggagaag	11	16	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:787323C>G	ENST00000251588.2	-	3	185	c.169G>C	c.(169-171)Ggg>Cgg	p.G57R	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.G57R|NARFL_ENST00000568545.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	57					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CTCCGGGTCCCGCCGTCCTAC	0.617																																					p.G57R		Atlas-SNP	.											NARFL,NS,carcinoma,0,1	NARFL	31	1	0			c.G169C						PASS	.						63	64	63					16																	787323		2200	4299	6499	SO:0001583	missense	64428	exon3			GGGTCCCGCCGTC	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.169G>C	16.37:g.787323C>G	ENSP00000251588:p.Gly57Arg	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	67	32	0.477612	NM_022493	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964176	0.18583	.	.	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.25912	1.77;1.77	4.29	2.31	0.28768	.	0.195215	0.43919	N	0.000519	T	0.15262	0.0368	L	0.28694	0.88	0.09310	N	0.999999	B;B;B	0.31174	0.311;0.311;0.002	B;B;B	0.30251	0.113;0.113;0.002	T	0.23368	-1.0190	10	0.16896	T	0.51	-28.7067	8.6826	0.34218	0.0:0.8105:0.0:0.1895	.	57;57;57	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	R	57	ENSP00000251588:G57R;ENSP00000301694:G57R	ENSP00000251588:G57R	G	-	1	0	NARFL	727324	0.475000	0.25894	0.026000	0.17262	0.467000	0.32768	3.402000	0.52608	0.455000	0.26910	-0.192000	0.12808	GGG	.	.	none		0.617	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		G	787323	C	G	787323	3	3	38	1	0	0	0	0	1	0	0	0	10168	652	23	4	1297	4	NARFL	16	787323	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		787323	89567430	186	23960										
PKD1	5310	hgsc.bcm.edu	37	chr16	2166542	2166542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccgactacctccacgggctcGtgcggggctgagaggccgtc	15	15	0	1	rs367983387	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:2166542G>A	ENST00000262304.4	-	8	1918	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.H570H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	570					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGGGCTCGTGCGGGGCTG	0.687													g|||	17	0.00339457	0.0	0.0014	5008	,	,		12902	0.001		0.0149	False		,,,				2504	0.0				p.H570H		Atlas-SNP	.											.	PKD1	184	.	0			c.C1710T						PASS	.	G	,	3,4305		0,3,2151	7	8	8		1710,1710	0.9	0	16		8	40,8422		0,40,4191	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,43,6342	AA,AG,GG		0.4727,0.0696,0.3367	,	570/4303,570/4304	2166542	43,12727	2154	4231	6385	SO:0001819	synonymous_variant	5310	exon8			GGGCTCGTGCGGG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1710C>T	16.37:g.2166542G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	62	28	0.451613	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			.	.	weak		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2166542	G	A	2166542	2	1	38	1	0	0	0	0	0	0	0	1	11963	1136	40	1		1	PKD1	16	2166542	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1379219	2166542	88188211	187	23961										
ACSM5	54988	hgsc.bcm.edu	37	chr16	20441084	20441084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gagaagtggaaacaccagacTggtgtggagctgtacgaagg	16	6	0	2	rs8063682	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:20441084T>C	ENST00000331849.4	+	8	1233	c.1086T>C	c.(1084-1086)acT>acC	p.T362T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	362					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AACACCAGACTGGTGTGGAGC	0.597													C|||	2717	0.542532	0.7428	0.2867	5008	,	,		16542	0.755		0.3211	False		,,,				2504	0.4622				p.T362T		Atlas-SNP	.											ACSM5,right_upper_lobe,carcinoma,+2,1	ACSM5	101	1	0			c.T1086C						scavenged	.	C		2925,1481		1058,809,336	81	86	84		1086	-8.9	0.1	16	dbSNP_116	84	2735,5861		558,1619,2121	no	coding-synonymous	ACSM5	NM_017888.2		1616,2428,2457	CC,CT,TT		31.8171,33.6133,43.5318		362/580	20441084	5660,7342	2203	4298	6501	SO:0001819	synonymous_variant	54988	exon8			CCAGACTGGTGTG		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1086T>C	16.37:g.20441084T>C		Somatic	35	4	0.114286		WXS	Illumina HiSeq	Phase_I	46	12	0.26087	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	CCDS10585.1																																																																																			T|0.550;C|0.450	0.450	strong		0.597	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		C	20441084	T	C	20441084	2	2	38	1	0	0	0	0	0	0	0	1	187	1567	55	3		3	ACSM5	16	20441084	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	18274542	20441084	69913669	188	23962										
GGA2	23062	hgsc.bcm.edu	37	chr16	23498055	23498055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttgaccaaattcttgattaaCcggtttgcagcctgaaggtc	9	9	1	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:23498055C>T	ENST00000309859.4	-	7	718	c.636G>A	c.(634-636)cgG>cgA	p.R212R	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	212	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCTTGATTAACCGGTTTGCAG	0.493																																					p.R212R		Atlas-SNP	.											.	GGA2	49	.	0			c.G636A						PASS	.						288	275	279					16																	23498055		2197	4300	6497	SO:0001819	synonymous_variant	23062	exon7			GATTAACCGGTTT	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.636G>A	16.37:g.23498055C>T		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	102	25	0.245098	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																			.	.	none		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			T	23498055	C	T	23498055	2	4	38	1	0	0	0	0	0	0	0	1	6353	494	18	2		2	GGA2	16	23498055	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	3056971	23498055	66856698	189	23963										
ZNF785	146540	hgsc.bcm.edu	37	chr16	30594344	30594344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agcacgcgtaaggcttctccCcggtgtgagcccgcctgtgg	14	14	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:30594344C>T	ENST00000395216.2	-	3	914	c.755G>A	c.(754-756)gGg>gAg	p.G252E	AC002310.7_ENST00000486926.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.G237E	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	252					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)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGCTTCTCCCCGGTGTGAGC	0.657																																					p.G252E		Atlas-SNP	.											ZNF785,NS,carcinoma,+1,1	ZNF785	30	1	0			c.G755A						PASS	.						43	39	40					16																	30594344		2197	4300	6497	SO:0001583	missense	146540	exon3			TTCTCCCCGGTGT	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.755G>A	16.37:g.30594344C>T	ENSP00000378642:p.Gly252Glu	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	87	12	0.137931	NM_152458	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.333110	0.81801	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.25749	1.78;1.78	3.48	2.53	0.30540	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37972	0.1023	L	0.38531	1.155	0.25695	N	0.985645	D;D;D	0.89917	0.981;1.0;0.977	P;D;B	0.91635	0.51;0.999;0.376	T	0.09207	-1.0685	9	0.87932	D	0	.	9.2692	0.37661	0.0:0.8899:0.0:0.1101	.	217;252;237	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	E	237;217;252	ENSP00000420340:G237E;ENSP00000378642:G252E	ENSP00000378642:G252E	G	-	2	0	ZNF785	30501845	0.938000	0.31826	0.229000	0.23960	0.537000	0.34900	3.507000	0.53371	1.077000	0.40990	-0.152000	0.13540	GGG	.	.	none		0.657	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		T	30594344	C	T	30594344	3	4	38	1	0	0	0	0	1	0	0	0	18154	623	22	2	466	2	ZNF785	16	30594344	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	7096289	30594344	59760409	190	23964										
ZNF319	57567	hgsc.bcm.edu	37	chr16	58030541	58030541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgctccccgcaccatacacaCttgaactgctgctcgcgggc	9	18	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:58030541C>T	ENST00000299237.2	-	2	2251	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						ACCATACACACTTGAACTGCT	0.662																																					p.K543K		Atlas-SNP	.											.	ZNF319	42	.	0			c.G1629A						PASS	.						42	35	37					16																	58030541		2198	4300	6498	SO:0001819	synonymous_variant	57567	exon2			TACACACTTGAAC	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1629G>A	16.37:g.58030541C>T		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	60	7	0.116667	NM_020807	Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																			.	.	none		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			T	58030541	C	T	58030541	2	4	38	1	0	0	0	0	0	0	0	1	17834	564	20	2		2	ZNF319	16	58030541	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	27436197	58030541	32324212	191	23965										
IL34	146433	hgsc.bcm.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agagccctcattgcagtatgCggccacccagctgtaccctc	9	16	1	1	rs201277640		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0				p.A208V		Atlas-SNP	.											IL34,bladder,carcinoma,0,3	IL34	26	3	1	Substitution - Missense(1)	urinary_tract(1)	c.C623T						scavenged	.	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433	exon7			AGTATGCGGCCAC	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val	Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	209	6	0.0287081	NM_152456	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG	C|1.000;T|0.000	0.000	strong		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		T	70693984	C	T	70693984	3	4	38	1	0	0	0	0	1	0	0	0	7694	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	12663443	70693984	19660769	192	23966										
HYDIN	54768	hgsc.bcm.edu	37	chr16	70993566	70993566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ctacctgacaagggtgtcccAtgaatgataatggcgatgcc	11	10	0	3	rs1774266	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:70993566A>G	ENST00000393567.2	-	39	6276	c.6126T>C	c.(6124-6126)caT>caC	p.H2042H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2042					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGTGTCCCATGAATGATAA	0.537													G|||	2199	0.439097	0.8608	0.3919	5008	,	,		10800	0.3968		0.164	False		,,,				2504	0.229				p.H2042H		Atlas-SNP	.											LOC652153,NS,carcinoma,0,2	HYDIN	788	2	0			c.T6126C						scavenged	.						26	61	54					16																	70993566		879	3631	4510	SO:0001819	synonymous_variant	54768	exon39			TGTCCCATGAATG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6126T>C	16.37:g.70993566A>G		Somatic	14	13	0.928571		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																			A|0.400;G|0.600	0.600	strong		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70993566	A	G	70993566	2	3	38	1	0	0	0	0	0	0	0	1	7467	214	8	2		2	HYDIN	16	70993566	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	299582	70993566	19361187	193	23967										
ZDHHC7	55625	hgsc.bcm.edu	37	chr16	85024162	85024162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gacgatgaagagtcatagttGtcattttcagccaggagagg	13	6	3	3			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr16:85024162G>A	ENST00000313732.4	-	3	415	c.63C>T	c.(61-63)gaC>gaT	p.D21D	ZDHHC7_ENST00000564466.1_Silent_p.D21D|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	21					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						AGTCATAGTTGTCATTTTCAG	0.592																																					p.D21D		Atlas-SNP	.											.	ZDHHC7	55	.	0			c.C63T						PASS	.						103	82	89					16																	85024162		2199	4300	6499	SO:0001819	synonymous_variant	55625	exon3			ATAGTTGTCATTT	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.63C>T	16.37:g.85024162G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	62	27	0.435484	NM_001145548	D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	37	CCDS10950.1																																																																																			.	.	none		0.592	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		A	85024162	G	A	85024162	2	1	38	1	0	0	0	0	0	0	0	1	17617	1368	48	2		2	ZDHHC7	16	85024162	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	14030596	85024162	5330591	194	23968										
ACADVL	37	hgsc.bcm.edu	37	chr17	7124102	7124103	+	Frame_Shift_Del	DEL	AC	AC	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagtgctcaacgaagagcagAcacagtttcttaaagagctg							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:7124102_7124103delAC	ENST00000356839.5	+	5	474_475	c.295_296delAC	c.(295-297)acafs	p.T99fs	ACADVL_ENST00000581562.1_3'UTR|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Frame_Shift_Del_p.T77fs|ACADVL_ENST00000543245.2_Frame_Shift_Del_p.T122fs|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	99	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CGAAGAGCAGACACAGTTTCTT	0.574																																					p.121_122del		Pindel,Atlas-Indel	.											ACADVL,NS,carcinoma,0,1	ACADVL	43	1	0			c.363_364del						PASS	.																																			SO:0001589	frameshift_variant	37	exon6			.	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.295_296delAC	17.37:g.7124104_7124105delAC	ENSP00000349297:p.Thr99fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	13	13	1	NM_001270447	B4DEB6|F5H2A9|O76056|Q8WUL0	Frame_Shift_Del	DEL	ENST00000356839.5	37	CCDS11090.1																																																																																			.	.	none		0.574	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		-	7124103	AC	-	7124102	7	5	38	1	0	1	0	1	0	0	0	0	116	275	10	0	313	0	ACADVL	17	7124102	Frame_Shift_Del	DEL	AC	TCGA-RQ-A68N-01A-11D-A31X-10		7124102	74071108	195	23969										
NEURL4	84461	hgsc.bcm.edu	37	chr17	7221436	7221436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caaagggcatggtactcgcaGctctttagaggactagcggc	13	10	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:7221436G>C	ENST00000399464.2	-	25	4023	c.4008C>G	c.(4006-4008)agC>agG	p.S1336R	NEURL4_ENST00000570460.1_Missense_Mutation_p.S1312R|NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000391950.3_5'Flank|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1334R|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.A150G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1336						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						GGTACTCGCAGCTCTTTAGAG	0.597																																					p.S1336R		Atlas-SNP	.											.	NEURL4	192	.	0			c.C4008G						PASS	.						97	108	105					17																	7221436		2064	4205	6269	SO:0001583	missense	84461	exon25			CTCGCAGCTCTTT		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.4008C>G	17.37:g.7221436G>C	ENSP00000382390:p.Ser1336Arg	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	46	5	0.108696	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355021	0.41700	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32515	1.45;1.45	5.03	1.81	0.25067	.	0.098701	0.64402	D	0.000002	T	0.26774	0.0655	L	0.59436	1.845	0.30519	N	0.768615	P;P	0.47677	0.899;0.838	B;B	0.39258	0.295;0.154	T	0.33854	-0.9852	10	0.66056	D	0.02	-29.3741	9.9785	0.41800	0.2648:0.0:0.7352:0.0	.	1334;1336	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	R	1334;1336	ENSP00000319826:S1334R;ENSP00000382390:S1336R	ENSP00000319826:S1334R	S	-	3	2	NEURL4	7162160	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.751000	0.38339	0.727000	0.32360	0.305000	0.20034	AGC	.	.	none		0.597	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		C	7221436	G	C	7221436	3	2	38	1	0	0	0	0	1	0	0	0	10347	962	34	4	700	4	NEURL4	17	7221436	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	97334	7221436	73973774	196	23970										
C17orf48	56985	hgsc.bcm.edu	37	chr17	10608524	10608524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aaagtccctagaacttgttaTggacatgttcaagaggctta	9	7	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:10608524T>C	ENST00000379774.4	+	2	372	c.281T>C	c.(280-282)aTg>aCg	p.M94T	ADPRM_ENST00000609540.1_Missense_Mutation_p.M94T	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	94							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										GAACTTGTTATGGACATGTTC	0.378																																					p.M94T		Atlas-SNP	.											.	.	.	.	0			c.T281C						PASS	.						102	96	98					17																	10608524		2203	4300	6503	SO:0001583	missense	56985	exon2			TTGTTATGGACAT	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.281T>C	17.37:g.10608524T>C	ENSP00000369099:p.Met94Thr	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	100	6	0.06	NM_020233	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387844	0.42308	.	.	ENSG00000170222	ENST00000379774	D	0.84589	-1.87	5.65	5.65	0.86999	Metallophosphoesterase domain (1);	0.252882	0.47093	D	0.000257	D	0.87450	0.6180	L	0.37561	1.115	0.80722	D	1	B	0.30634	0.288	P	0.52424	0.698	T	0.82339	-0.0506	10	0.16420	T	0.52	-16.4474	15.7104	0.77623	0.0:0.0:0.0:1.0	.	94	Q3LIE5	ADPRM_HUMAN	T	94	ENSP00000369099:M94T	ENSP00000369099:M94T	M	+	2	0	C17orf48	10549249	1.000000	0.71417	0.815000	0.32552	0.716000	0.41182	7.127000	0.77210	2.371000	0.80710	0.533000	0.62120	ATG	.	.	none		0.378	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		C	10608524	T	C	10608524	3	2	38	1	0	0	0	0	1	0	0	0	1859	1464	51	2	283	2	C17orf48	17	10608524	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	3387088	10608524	70586686	197	23971										
MAP2K4	6416	hgsc.bcm.edu	37	chr17	12044515	12044515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtgccgttgaggtcgcatgcTatgtttgtaaaatcctggat	12	7	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:12044515T>C	ENST00000353533.5	+	11	1201	c.1138T>C	c.(1138-1140)Tat>Cat	p.Y380H	MAP2K4_ENST00000415385.3_Missense_Mutation_p.Y391H	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	380	DVD domain.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GGTCGCATGCTATGTTTGTAA	0.408			"D, Mis, N"		"pancreatic, breast, colorectal"																																p.Y380H		Atlas-SNP	.		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	MAP2K4	176	.	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)	c.T1138C						PASS	.						151	131	138					17																	12044515		2203	4300	6503	SO:0001583	missense	6416	exon11			GCATGCTATGTTT	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1138T>C	17.37:g.12044515T>C	ENSP00000262445:p.Tyr380His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	78	4	0.0512821	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467476	0.84533	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.20200	2.09;2.09	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.76071	0.909;0.987;0.971	T	0.41395	-0.9511	10	0.87932	D	0	.	14.7836	0.69784	0.0:0.0:0.0:1.0	.	252;391;380	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	H	380;391;357;252	ENSP00000262445:Y380H;ENSP00000410402:Y391H	ENSP00000262445:Y380H	Y	+	1	0	MAP2K4	11985240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.864000	0.87037	2.322000	0.78497	0.528000	0.53228	TAT	.	.	none		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			C	12044515	T	C	12044515	3	2	38	1	0	0	0	0	1	0	0	0	9239	1522	53	3	1180	3	MAP2K4	17	12044515	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	1435991	12044515	69150695	198	23972										
ACCN1	40	hgsc.bcm.edu	37	chr17	31618815	31618815	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gctgagccagtagagcaagcGgttcgaggaccaggacagca	15	10	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:31618815G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Missense_Mutation_p.R107C	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TAGAGCAAGCGGTTCGAGGAC	0.672																																					p.R107C		Atlas-SNP	.											.	.	.	.	0			c.C319T						PASS	.						36	36	36					17																	31618815		2203	4297	6500	SO:0001627	intron_variant	40	exon1			GCAAGCGGTTCGA	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179730C>T	17.37:g.31618815G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	36	4	0.111111	NM_183377	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058468	0.55325	.	.	ENSG00000108684	ENST00000225823	T	0.65916	-0.18	4.73	3.74	0.42951	.	0.065766	0.56097	D	0.000040	T	0.65647	0.2711	M	0.79258	2.445	0.80722	D	1	P	0.50369	0.934	P	0.47044	0.535	T	0.65533	-0.6145	10	0.38643	T	0.18	-3.7744	10.0793	0.42379	0.0:0.0:0.635:0.365	.	107	E9PBX2	.	C	107	ENSP00000225823:R107C	ENSP00000225823:R107C	R	-	1	0	ACCN1	28642928	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.203000	0.65174	0.937000	0.37394	0.313000	0.20887	CGC	.	.	none		0.672	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		A	31618815	G	A	31618815	1	1	38	0	1	0	0	0	0	0	0	0	128	1116	39	1		1	ACCN1	17	31618815	Intron	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	19574300	31618815	49576395	199	23973										
ACACA	31	hgsc.bcm.edu	37	chr17	35609904	35609904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	taacaatttgatcaggtattCaactgtagttcgaaagtcac	7	7	3	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:35609904C>T	ENST00000394406.2	-	15	1964	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ACACA_ENST00000335166.5_Missense_Mutation_p.E514K|ACACA_ENST00000360679.3_Missense_Mutation_p.E534K|ACACA_ENST00000353139.5_Missense_Mutation_p.E629K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	592	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCAGGTATTCAACTGTAGTT	0.423																																					p.E629K	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Atlas-SNP	.											.	ACACA	395	.	0			c.G1885A						PASS	.						159	155	156					17																	35609904		2203	4300	6503	SO:0001583	missense	31	exon15			GGTATTCAACTGT	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1774G>A	17.37:g.35609904C>T	ENSP00000377928:p.Glu592Lys	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	91	17	0.186813	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.896819	0.97081	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.04	6.04	0.98038	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.82056	2.57	0.80722	D	1	D;D;D	0.60575	0.984;0.988;0.984	D;D;P	0.71414	0.973;0.934;0.891	T	0.68808	-0.5311	10	0.59425	D	0.04	-18.994	19.5674	0.95401	0.0:1.0:0.0:0.0	.	629;592;534	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	K	629;534;592;616;514	ENSP00000344789:E629K;ENSP00000353898:E534K;ENSP00000377928:E592K;ENSP00000335323:E514K	ENSP00000335323:E514K	E	-	1	0	ACACA	32684017	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAA	.	.	none		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35609904	C	T	35609904	3	4	38	1	0	0	0	0	1	0	0	0	106	835	29	2	5434	2	ACACA	17	35609904	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	3991089	35609904	45585306	200	23974										
KRTAP1-1	81851	hgsc.bcm.edu	37	chr17	39197248	39197248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gggggtgtgcagctcaccacGcagcaggggggcaggcaggt	20	10	1	0	rs570985299	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:39197248G>A	ENST00000306271.4	-	1	465	c.402C>T	c.(400-402)tgC>tgT	p.C134C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	134						keratin filament (GO:0045095)		p.C134C(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTCACCACGCAGCAGGGGG	0.672													a|||	3	0.000599042	0.0008	0.0	5008	,	,		16961	0.0		0.0	False		,,,				2504	0.002				p.C134C		Atlas-SNP	.											KRTAP1-1,NS,carcinoma,0,1	KRTAP1-1	23	1	1	Substitution - coding silent(1)	endometrium(1)	c.C402T						scavenged	.						24	29	27					17																	39197248		2078	4173	6251	SO:0001819	synonymous_variant	81851	exon1			CACCACGCAGCAG	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.402C>T	17.37:g.39197248G>A		Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	138	3	0.0217391	NM_030967	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																			.	.	none		0.672	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197248	G	A	39197248	2	1	38	1	0	0	0	0	0	0	0	1	8502	1079	38	1		1	KRTAP1-1	17	39197248	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3587344	39197248	41997962	201	23975										
STAT3	6774	hgsc.bcm.edu	37	chr17	40485746	40485746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gacgaggggccggtcaggatGcatgggcatgcagggctgcc	19	10	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:40485746G>A	ENST00000264657.5	-	10	1306	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	STAT3_ENST00000585517.1_Missense_Mutation_p.H332Y|STAT3_ENST00000404395.3_Missense_Mutation_p.H332Y|STAT3_ENST00000389272.3_Missense_Mutation_p.H234Y|STAT3_ENST00000588969.1_Missense_Mutation_p.H332Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	332					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CGGTCAGGATGCATGGGCATG	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.H332Y		Atlas-SNP	.											.	STAT3	268	.	0			c.C994T	GRCh37	CM085729	STAT3	M		PASS	.						72	65	67					17																	40485746		2203	4300	6503	SO:0001583	missense	6774	exon10	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	CAGGATGCATGGG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.994C>T	17.37:g.40485746G>A	ENSP00000264657:p.His332Tyr	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	71	24	0.338028	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310461	0.95629	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88586	-2.4;-2.4;-2.4	5.41	5.41	0.78517	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	L	0.48362	1.52	0.80722	D	1	D;D;D	0.58268	0.978;0.982;0.982	D;D;D	0.71414	0.955;0.973;0.973	D	0.92482	0.5993	10	0.51188	T	0.08	-37.9112	19.1988	0.93701	0.0:0.0:1.0:0.0	.	332;332;332	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Y	332;234;332	ENSP00000264657:H332Y;ENSP00000373923:H234Y;ENSP00000384943:H332Y	ENSP00000264657:H332Y	H	-	1	0	STAT3	37739272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.531000	0.85337	0.655000	0.94253	CAT	.	.	none		0.577	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		A	40485746	G	A	40485746	3	1	38	1	0	0	0	0	1	0	0	0	15265	1319	46	2	1378	2	STAT3	17	40485746	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1288498	40485746	40709464	202	23976										
PLEKHM1	9842	hgsc.bcm.edu	37	chr17	43552790	43552790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gagggtccagctcagaaagcGggcaaagcccagacagggcc	15	12	1	2	rs147167801		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:43552790G>T	ENST00000430334.3	-	4	732	c.599C>A	c.(598-600)cCg>cAg	p.P200Q	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P111Q	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	200					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTCAGAAAGCGGGCAAAGCCC	0.532																																					p.P200Q		Atlas-SNP	.											PLEKHM1,colon,carcinoma,+1,1	PLEKHM1	69	1	0			c.C599A						scavenged	.						51	47	48					17																	43552790		2201	4290	6491	SO:0001583	missense	9842	exon4			GAAAGCGGGCAAA	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.599C>A	17.37:g.43552790G>T	ENSP00000389913:p.Pro200Gln	Somatic	181	1	0.00552486		WXS	Illumina HiSeq	Phase_I	167	2	0.011976	NM_014798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193235	0.38707	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.71817	-0.53;-0.6	5.03	5.03	0.67393	.	0.199334	0.44097	D	0.000500	T	0.75664	0.3880	L	0.27053	0.805	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.78396	-0.2220	10	0.72032	D	0.01	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	111;200	F8W648;Q9Y4G2	.;PKHM1_HUMAN	Q	200;149;111	ENSP00000389913:P200Q;ENSP00000414352:P111Q	ENSP00000414352:P111Q	P	-	2	0	PLEKHM1	40908573	1.000000	0.71417	0.957000	0.39632	0.855000	0.48748	8.612000	0.90909	2.608000	0.88229	0.655000	0.94253	CCG	G|1.000;A|0.000	.	alt		0.532	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		T	43552790	G	T	43552790	3	4	38	1	0	0	0	0	1	0	0	0	12080	1116	39	4	2607	4	PLEKHM1	17	43552790	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3067044	43552790	37642420	203	23977										
NPEPPS	9520	hgsc.bcm.edu	37	chr17	45669428	45669429	+	Splice_Site	INS	-	-	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gactacattggggataaggtINSaaaaaaaaactttaaatatt					rs59875832	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:45669428_45669429insA	ENST00000322157.4	+	11	1602		c.e11+2		NPEPPS_ENST00000525037.1_Splice_Site|NPEPPS_ENST00000530173.1_Splice_Site|NPEPPS_ENST00000544660.1_Splice_Site	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGATAAGGTAAAAAAAAACT	0.337													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	2727	0.544529	0.3767	0.6527	5008	,	,		20630	0.6647		0.5358	False		,,,				2504	0.5798				.		Pindel	.											.	NPEPPS	59	.	0			c.1365+2->A						PASS	.			18,1379,2111		0,6,12,257,859,620						5.4	1		dbSNP_130	43	52,3927,3819		2,20,28,949,2009,891	no	intron	NPEPPS	NM_006310.3		2,26,40,1206,2868,1511	A1A1,A1A2,A1R,A2A2,A2R,RR		49.6409,39.8233,47.55				70,5306,5930				SO:0001630	splice_region_variant	9520	exon11			.	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1365+2->A	17.37:g.45669437_45669437dupA		Somatic	0	0	0		WXS	Illumina HiSeq	Phase_I	38	38	1	NM_006310	B7Z463|Q6P145|Q9NP16|Q9UEM2	Splice_Site	INS	ENST00000322157.4	37	CCDS45721.1																																																																																			A|0.500;AAA|0.500	0.500	strong		0.337	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	Intron	A	45669429	-	A	45669428	8	5	38	1	0	1	1	0	0	0	1	0	10575	1652	57	0	1409	0	NPEPPS	17	45669428	Splice_Site	INS	-	TCGA-RQ-A68N-01A-11D-A31X-10	2116638	45669428	35525782	204	23978										
KCNH6	81033	hgsc.bcm.edu	37	chr17	61622590	61622590	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cggagacgacgagtccagggCccaggctgccccagggcttt	15	14	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:61622590C>G	ENST00000583023.1	+	13	2667	c.2656C>G	c.(2656-2658)Ccc>Gcc	p.P886A	KCNH6_ENST00000581784.1_Missense_Mutation_p.P797A|KCNH6_ENST00000456941.2_Missense_Mutation_p.P797A|KCNH6_ENST00000314672.5_Missense_Mutation_p.P850A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	886					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAGTCCAGGGCCCAGGCTGCC	0.632																																					p.P886A		Atlas-SNP	.											.	KCNH6	122	.	0			c.C2656G						PASS	.						53	54	54					17																	61622590		2203	4300	6503	SO:0001583	missense	81033	exon13			CCAGGGCCCAGGC	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2656C>G	17.37:g.61622590C>G	ENSP00000463533:p.Pro886Ala	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	45	22	0.488889	NM_030779	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745821	0.15710	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99220	-5.58	4.82	1.64	0.23874	.	1.794330	0.02752	N	0.117564	D	0.96759	0.8942	L	0.29908	0.895	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	D	0.93664	0.6984	10	0.10377	T	0.69	.	4.0312	0.09710	0.1928:0.5845:0.1298:0.0929	.	727;850;797;886	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	A	886;797	ENSP00000396900:P797A	ENSP00000318212:P886A	P	+	1	0	KCNH6	58976322	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	0.146000	0.16180	0.253000	0.21552	0.655000	0.94253	CCC	.	.	none		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		G	61622590	C	G	61622590	3	3	38	1	0	0	0	0	1	0	0	0	8036	739	26	4	2706	4	KCNH6	17	61622590	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	15953162	61622590	19572620	205	23979										
CD79B	974	hgsc.bcm.edu	37	chr17	62006799	62006799	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgcccctctccttacctcgtAggtgtgatcttcctccatgc	7	16	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:62006799A>T	ENST00000006750.3	-	5	678	c.586T>A	c.(586-588)Tac>Aac	p.Y196N	CD79B_ENST00000392795.3_Missense_Mutation_p.Y197N|CD79B_ENST00000349817.2_Missense_Mutation_p.Y92N	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	196	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y196H(2)|p.Y196N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CTTACCTCGTAGGTGTGATCT	0.632			"Mis, O"		DLBCL																																p.Y197N		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,lymphoid_neoplasm,0,13	CD79B	38	13	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.T589A						PASS	.						94	74	81					17																	62006799		2203	4300	6503	SO:0001583	missense	974	exon5			CCTCGTAGGTGTG	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.586T>A	17.37:g.62006799A>T	ENSP00000006750:p.Tyr196Asn	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	29	0.402778	NM_001039933	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539798	0.45176	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	D;D;D	0.96651	-4.08;-4.08;-4.08	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.95601	0.8570	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.95387	0.8478	10	0.87932	D	0	-12.4743	9.5967	0.39578	1.0:0.0:0.0:0.0	.	92;196	P40259-2;P40259	.;CD79B_HUMAN	N	92;197;196	ENSP00000245862:Y92N;ENSP00000376544:Y197N;ENSP00000006750:Y196N	ENSP00000006750:Y196N	Y	-	1	0	CD79B	59360531	1.000000	0.71417	0.995000	0.50966	0.298000	0.27526	4.559000	0.60796	1.782000	0.52362	0.358000	0.22013	TAC	.	.	none		0.632	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			T	62006799	A	T	62006799	3	4	38	1	0	0	0	0	1	0	0	0	3037	420	15	5	111	5	CD79B	17	62006799	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	384209	62006799	19188411	206	23980										
CD79B	974	hgsc.bcm.edu	37	chr17	62006833	62006833	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tccatgccagccttgctgtcAtcctgggggcggagagggat	15	11	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:62006833A>G	ENST00000006750.3	-	5	644	c.552T>C	c.(550-552)gaT>gaC	p.D184D	CD79B_ENST00000392795.3_Silent_p.D185D|CD79B_ENST00000349817.2_Silent_p.D80D	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	184					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CCTTGCTGTCATCCTGGGGGC	0.647			"Mis, O"		DLBCL																																p.D185D		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	.	CD79B	38	.	0			c.T555C						PASS	.						77	59	65					17																	62006833		2203	4300	6503	SO:0001819	synonymous_variant	974	exon5			GCTGTCATCCTGG	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.552T>C	17.37:g.62006833A>G		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	69	27	0.391304	NM_001039933	Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	CCDS11655.1																																																																																			.	.	none		0.647	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			G	62006833	A	G	62006833	2	3	38	1	0	0	0	0	0	0	0	1	3037	214	8	2		2	CD79B	17	62006833	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	34	62006833	19188377	207	23981										
CCDC57	284001	hgsc.bcm.edu	37	chr17	80121138	80121138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tctgtccccgagcttcctgaGtgccagtccagaggatactg	11	13	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr17:80121138G>A	ENST00000389641.4	-	13	2014	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392343.3_Missense_Mutation_p.L660F|CCDC57_ENST00000392347.1_Missense_Mutation_p.L660F|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	660										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGCTTCCTGAGTGCCAGTCCA	0.582																																					p.L660F		Atlas-SNP	.											.	CCDC57	102	.	0			c.C1978T						PASS	.						124	129	127					17																	80121138		2022	4182	6204	SO:0001583	missense	284001	exon13			TCCTGAGTGCCAG	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1978C>T	17.37:g.80121138G>A	ENSP00000374292:p.Leu660Phe	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	84	30	0.357143	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.19|10.19	1.281031|1.281031	0.23392|0.23392	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	T;T;T|.	0.54071|.	1.93;1.93;0.59|.	2.86|2.86	-0.301|-0.301	0.12800|0.12800	.|.	0.893166|.	0.09083|.	N|.	0.851066|.	T|T	0.43010|0.43010	0.1228|0.1228	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B|.	0.27498|.	0.18;0.09|.	B;B|.	0.31442|.	0.13;0.046|.	T|T	0.38972|0.38972	-0.9636|-0.9636	10|5	0.66056|.	D|.	0.02|.	-0.0705|-0.0705	5.0858|5.0858	0.14680|0.14680	0.4431:0.0:0.5569:0.0|0.4431:0.0:0.5569:0.0	.|.	660;660|.	Q2TAC2-2;Q2TAC2|.	.;CCD57_HUMAN|.	F|I	660;660;168;660|5	ENSP00000374292:L660F;ENSP00000376158:L660F;ENSP00000376154:L660F|.	ENSP00000315967:L168F|.	L|T	-|-	1|2	0|0	CCDC57|CCDC57	77714427|77714427	0.115000|0.115000	0.22152|0.22152	0.001000|0.001000	0.08648|0.08648	0.047000|0.047000	0.14425|0.14425	1.267000|1.267000	0.33050|0.33050	-0.017000|-0.017000	0.14103|0.14103	-0.262000|-0.262000	0.10625|0.10625	CTC|ACT	.	.	none		0.582	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		A	80121138	G	A	80121138	3	1	38	1	0	0	0	0	1	0	0	0	2827	1029	36	2	789	2	CCDC57	17	80121138	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	18114305	80121138	1074072	208	23982										
L3MBTL4	91133	hgsc.bcm.edu	37	chr18	6138191	6138191	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	acttaaataagaaaaatgttAcctgtgatgtcccgaataac	6	7	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr18:6138191A>G	ENST00000284898.6	-	14	1400		c.e14+1		L3MBTL4_ENST00000535782.1_Splice_Site|L3MBTL4_ENST00000400104.3_Splice_Site|L3MBTL4_ENST00000400105.2_Splice_Site|L3MBTL4_ENST00000317931.7_Splice_Site	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)						chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GAAAAATGTTACCTGTGATGT	0.463																																					.	Esophageal Squamous(41;748 902 17366 28959 43175)	Atlas-SNP	.											.	L3MBTL4	87	.	0			c.1199+2T>C						PASS	.						53	47	49					18																	6138191		2203	4300	6503	SO:0001630	splice_region_variant	91133	exon15			AATGTTACCTGTG	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1199+1T>C	18.37:g.6138191A>G		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	43	14	0.325581	NM_173464	A8MTL8|Q8IXS3	Splice_Site	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889732	0.52014	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5945	0.45329	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	L3MBTL4	6128191	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.228000	0.58619	1.773000	0.52216	0.528000	0.53228	.	.	.	none		0.463	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	Intron	G	6138191	A	G	6138191	5	3	38	1	0	0	0	0	0	0	1	0	8594	405	14	2	698	2	L3MBTL4	18	6138191	Splice_Site	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10		6138191	71939057	209	23983										
POTEC	388468	hgsc.bcm.edu	37	chr18	14542888	14542888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gtcttcataaaggagttgtcAtggtctccagaagtgcccac	10	10	4	1	rs543140115	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr18:14542888A>G	ENST00000358970.5	-	1	257	c.258T>C	c.(256-258)caT>caC	p.H86H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTTGTCATGGTCTCCAG	0.587													.|||	10	0.00199681	0.0076	0.0	5008	,	,		28860	0.0		0.0	False		,,,				2504	0.0				p.H86H		Atlas-SNP	.											POTEC,NS,carcinoma,-2,1	POTEC	129	1	0			c.T258C						scavenged	.						51	57	55					18																	14542888		692	1591	2283	SO:0001819	synonymous_variant	388468	exon1			GTTGTCATGGTCT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.258T>C	18.37:g.14542888A>G		Somatic	305	3	0.00983607		WXS	Illumina HiSeq	Phase_I	259	3	0.011583	NM_001137671		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																			.	.	weak		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14542888	A	G	14542888	2	3	38	1	0	0	0	0	0	0	0	1	12262	214	8	2		2	POTEC	18	14542888	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	8404697	14542888	63534360	210	23984										
DSC3	1825	hgsc.bcm.edu	37	chr18	28576767	28576767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggaaactcacttcaccgagaCggggttgagtaaaactgtgc	12	9	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr18:28576767C>T	ENST00000360428.4	-	15	2563	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	DSC3_ENST00000434452.1_Missense_Mutation_p.R828H	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	828					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCACCGAGACGGGGTTGAGT	0.433																																					p.R828H		Atlas-SNP	.											DSC3_ENST00000434452,colon,carcinoma,-1,2	DSC3	225	2	0			c.G2483A						PASS	.						80	71	74					18																	28576767		2203	4300	6503	SO:0001583	missense	1825	exon15			CCGAGACGGGGTT	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2483G>A	18.37:g.28576767C>T	ENSP00000353608:p.Arg828His	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	65	16	0.246154	NM_024423	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209685	0.22289	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.76448	-1.02;0.28	4.64	3.77	0.43336	Cadherin, cytoplasmic domain (1);	0.000000	0.32287	N	0.006305	T	0.65780	0.2724	L	0.39898	1.24	0.39448	D	0.967356	P;P	0.45634	0.616;0.863	B;B	0.37888	0.167;0.26	T	0.67647	-0.5617	10	0.45353	T	0.12	.	9.6501	0.39892	0.0:0.8391:0.0:0.1609	.	828;828	Q14574;Q14574-2	DSC3_HUMAN;.	H	828	ENSP00000353608:R828H;ENSP00000392068:R828H	ENSP00000353608:R828H	R	-	2	0	DSC3	26830765	0.994000	0.37717	0.965000	0.40720	0.627000	0.37826	2.519000	0.45546	1.296000	0.44742	-0.150000	0.13652	CGT	.	.	none		0.433	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28576767	C	T	28576767	3	4	38	1	0	0	0	0	1	0	0	0	4767	536	19	1	246	1	DSC3	18	28576767	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	14033879	28576767	49500481	211	23985										
C3	718	hgsc.bcm.edu	37	chr19	6696418	6696418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	agaattctggtctcagactcGgtgtccgggacttggtcact	12	10	3	2	rs139152390		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:6696418G>A	ENST00000245907.6	-	23	3014	c.2922C>T	c.(2920-2922)acC>acT	p.T974T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	974					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCTCAGACTCGGTGTCCGGGA	0.572																																					p.T974T		Atlas-SNP	.											.	C3	192	.	0			c.C2922T						PASS	.	A		1,4405	2.1+/-5.4	0,1,2202	167	124	138		2922	-11.9	0	19	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	C3	NM_000064.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		974/1664	6696418	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	718	exon23			AGACTCGGTGTCC	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2922C>T	19.37:g.6696418G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	77	6	0.0779221	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			G|1.000;A|0.000	0.000	weak		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6696418	G	A	6696418	2	1	38	1	0	0	0	0	0	0	0	1	2204	1103	39	1		1	C3	19	6696418	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		6696418	52432565	212	23986										
MUC16	94025	hgsc.bcm.edu	37	chr19	9070331	9070331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcatgcatggcttctgtgtgCgcagtgtctttgtaagtggt	14	7	2	0	rs186109841	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:9070331C>T	ENST00000397910.4	-	3	17318	c.17115G>A	c.(17113-17115)gcG>gcA	p.A5705A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5707	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGTGTGCGCAGTGTCTT	0.507													a|||	2	0.000399361	0.0008	0.0	5008	,	,		21807	0.001		0.0	False		,,,				2504	0.0				p.A5705A		Atlas-SNP	.											.	MUC16	4315	.	0			c.G17115A						PASS	.	C		5,4193		0,5,2094	166	161	163		17115	-3.1	0	19		163	7,8421		0,7,4207	no	coding-synonymous	MUC16	NM_024690.2		0,12,6301	TT,TC,CC		0.0831,0.1191,0.095		5705/14508	9070331	12,12614	2099	4214	6313	SO:0001819	synonymous_variant	94025	exon3			TGTGTGCGCAGTG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17115G>A	19.37:g.9070331C>T		Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	136	82	0.602941	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			C|1.000;T|0.000	0.000	strong		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9070331	C	T	9070331	2	4	38	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9070331	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2373913	9070331	50058652	213	23987										
FCHO1	23149	hgsc.bcm.edu	37	chr19	17897428	17897428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggaggcttccagatgtgtcCgaggcaggcggtgagctgtg	18	8	0	2	rs370950809		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:17897428C>T	ENST00000596536.1	+	27	2755	c.2472C>T	c.(2470-2472)tcC>tcT	p.S824S	FCHO1_ENST00000539407.1_Silent_p.S824S|FCHO1_ENST00000596951.1_Silent_p.S824S|FCHO1_ENST00000252771.7_Silent_p.S824S|FCHO1_ENST00000595033.1_Silent_p.S774S|FCHO1_ENST00000594202.1_Silent_p.S824S|FCHO1_ENST00000600676.1_Silent_p.S824S|FCHO1_ENST00000597512.1_Silent_p.S831S|FCHO1_ENST00000389133.4_Silent_p.S824S	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	824	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGATGTGTCCGAGGCAGGCG	0.562																																					p.S824S		Atlas-SNP	.											.	FCHO1	69	.	0			c.C2472T						PASS	.	C	,,,	0,4406		0,0,2203	59	61	60		2472,2472,2322,2472	-4.7	1	19		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FCHO1	NM_001161357.1,NM_001161358.1,NM_001161359.1,NM_015122.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	824/892,824/890,774/840,824/890	17897428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23149	exon26			TGTGTCCGAGGCA	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2472C>T	19.37:g.17897428C>T		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	35	27	0.771429	NM_001161358	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	CCDS32955.1																																																																																			.	.	weak		0.562	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		T	17897428	C	T	17897428	2	4	38	1	0	0	0	0	0	0	0	1	5787	639	23	1		1	FCHO1	19	17897428	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	8827097	17897428	41231555	214	23988										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22156967	22156967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccttactaaaggctttgccaCattcttcacatttgttgggt	7	10	2	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:22156967C>T	ENST00000397126.4	-	4	1017	c.869G>A	c.(868-870)tGt>tAt	p.C290Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGCTTTGCCACATTCTTCACA	0.388																																					p.C290Y		Atlas-SNP	.											.	ZNF208	817	.	0			c.G869A						PASS	.						48	52	51					19																	22156967		2144	4264	6408	SO:0001583	missense	7757	exon4			TTGCCACATTCTT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.869G>A	19.37:g.22156967C>T	ENSP00000380315:p.Cys290Tyr	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	38	21	0.552632	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596455	0.46318	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85861	-2.04	2.89	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90689	0.7079	.	.	.	0.34667	D	0.723249	D	0.89917	1.0	D	0.78314	0.991	D	0.91372	0.5120	8	0.62326	D	0.03	.	10.3364	0.43852	0.0:0.7964:0.2036:0.0	.	290	O43345	ZN208_HUMAN	Y	290	ENSP00000380315:C290Y	ENSP00000380315:C290Y	C	-	2	0	ZNF208	21948807	0.925000	0.31364	0.001000	0.08648	0.023000	0.10783	2.741000	0.47426	0.187000	0.20147	0.306000	0.20318	TGT	.	.	none		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22156967	C	T	22156967	3	4	38	1	0	0	0	0	1	0	0	0	17763	478	17	2	2977	2	ZNF208	19	22156967	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	4259539	22156967	36972016	215	23989										
WDR88	126248	hgsc.bcm.edu	37	chr19	33642122	33642122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccatcacgtcatgctgctttGaccccgacagccagagggtg	11	14	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:33642122G>T	ENST00000355868.3	+	6	791	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	WDR88_ENST00000361680.2_Missense_Mutation_p.D239Y	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	239										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATGCTGCTTTGACCCCGACAG	0.557																																					p.D239Y		Atlas-SNP	.											.	WDR88	50	.	0			c.G715T						PASS	.						149	90	110					19																	33642122		2203	4300	6503	SO:0001583	missense	126248	exon6			TGCTTTGACCCCG	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.715G>T	19.37:g.33642122G>T	ENSP00000348129:p.Asp239Tyr	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	61	39	0.639344	NM_173479	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744689	0.69418	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.60920	0.15;0.15	5.89	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	3.304740	0.00998	N	0.003621	T	0.77485	0.4137	L	0.59436	1.845	0.32073	N	0.594173	D	0.89917	1.0	D	0.85130	0.997	T	0.63554	-0.6611	10	0.66056	D	0.02	.	14.6624	0.68882	0.0826:0.0:0.9174:0.0	.	239	Q6ZMY6	WDR88_HUMAN	Y	239	ENSP00000348129:D239Y;ENSP00000355148:D239Y	ENSP00000348129:D239Y	D	+	1	0	WDR88	38333962	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.586000	0.60984	2.783000	0.95769	0.655000	0.94253	GAC	.	.	none		0.557	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		T	33642122	G	T	33642122	3	4	38	1	0	0	0	0	1	0	0	0	17332	1290	45	4	737	4	WDR88	19	33642122	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	11485155	33642122	25486861	216	23990										
KIAA0355	9710	hgsc.bcm.edu	37	chr19	34791796	34791796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cggccataaagcctgagatcGccaagatgctaatggaactt	10	10	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:34791796G>A	ENST00000299505.6	+	2	1291	c.418G>A	c.(418-420)Gcc>Acc	p.A140T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	140								p.A140T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCTGAGATCGCCAAGATGCT	0.488																																					p.A140T		Atlas-SNP	.											KIAA0355,NS,carcinoma,0,1	KIAA0355	105	1	1	Substitution - Missense(1)	endometrium(1)	c.G418A						scavenged	.						56	46	49					19																	34791796		2203	4300	6503	SO:0001583	missense	9710	exon2			GAGATCGCCAAGA		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.418G>A	19.37:g.34791796G>A	ENSP00000299505:p.Ala140Thr	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	29	5	0.172414	NM_014686	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905079	0.92035	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.055990	0.64402	D	0.000001	T	0.61060	0.2317	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	T	0.66292	-0.5960	9	0.87932	D	0	-14.461	19.2076	0.93739	0.0:0.0:1.0:0.0	.	140	O15063	K0355_HUMAN	T	140	.	ENSP00000299505:A140T	A	+	1	0	KIAA0355	39483636	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.420000	0.97426	2.607000	0.88179	0.561000	0.74099	GCC	.	.	none		0.488	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		A	34791796	G	A	34791796	3	1	38	1	0	0	0	0	1	0	0	0	8170	1087	38	1	420	1	KIAA0355	19	34791796	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1149674	34791796	24337187	217	23991										
PLA2G4C	8605	hgsc.bcm.edu	37	chr19	48609797	48609797	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	accttcccatggtgcactgcGgtcagaaaattctcagtcct	8	13	2	1	rs570635333		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:48609797G>A	ENST00000599921.1	-	0	347				PLA2G4C_ENST00000413144.2_5'Flank|PLA2G4C_ENST00000599111.1_Silent_p.T17T|PLA2G4C_ENST00000354276.3_5'UTR			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)						arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGTGCACTGCGGTCAGAAAAT	0.517																																					p.T17T		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.C51T						PASS	.						157	130	140					19																	48609797		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8605	exon2			CACTGCGGTCAGA	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.-11C>T	19.37:g.48609797G>A		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	65	41	0.630769	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																			.	.	none		0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			A	48609797	G	A	48609797	1	1	38	0	1	0	0	0	0	0	0	0	12003	1103	39	1		1	PLA2G4C	19	48609797	5'UTR	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	13818001	48609797	10519186	218	23992										
PRKCG	5582	hgsc.bcm.edu	37	chr19	54392899	54392899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tctctgcccccaggacccccGgaacaaacacaagttccgcc	7	19	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:54392899G>A	ENST00000263431.3	+	4	575	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	98					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CAGGACCCCCGGAACAAACAC	0.602																																					p.R98Q		Atlas-SNP	.											.	PRKCG	246	.	0			c.G293A						PASS	.						57	50	52					19																	54392899		2203	4300	6503	SO:0001583	missense	5582	exon4			ACCCCCGGAACAA	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.293G>A	19.37:g.54392899G>A	ENSP00000263431:p.Arg98Gln	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	84	60	0.714286	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574096	0.65765	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.84370	-1.84;-1.84;-1.84	4.54	4.54	0.55810	.	.	.	.	.	D	0.82499	0.5050	M	0.74881	2.28	0.80722	D	1	P;B;P;P	0.43701	0.769;0.425;0.815;0.679	B;B;B;B	0.33121	0.149;0.066;0.111;0.158	D	0.84896	0.0839	9	0.45353	T	0.12	.	15.2147	0.73254	0.0:0.0:1.0:0.0	.	98;98;98;98	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	Q	98;98;98;121	ENSP00000440541:R98Q;ENSP00000443493:R98Q;ENSP00000263431:R98Q	ENSP00000263431:R98Q	R	+	2	0	PRKCG	59084711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.260000	0.74910	0.644000	0.83932	CGG	.	.	none		0.602	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54392899	G	A	54392899	3	1	38	1	0	0	0	0	1	0	0	0	12512	1116	39	1	307	1	PRKCG	19	54392899	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	5783102	54392899	4736084	219	23993										
CNOT3	4849	hgsc.bcm.edu	37	chr19	54648016	54648016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gcaggtggaccagtttgagaGtgaagtggagtcactgtcag	16	6	2	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:54648016G>A	ENST00000406403.1	+	6	2034	c.431G>A	c.(430-432)aGt>aAt	p.S144N	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S144N			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	144					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGTTTGAGAGTGAAGTGGAG	0.567																																					p.S144N		Atlas-SNP	.											.	CNOT3	133	.	0			c.G431A						PASS	.						149	111	124					19																	54648016		2203	4300	6503	SO:0001583	missense	4849	exon7			TTGAGAGTGAAGT	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.431G>A	19.37:g.54648016G>A	ENSP00000383954:p.Ser144Asn	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	166	35	0.210843	NM_014516	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.452152|5.452152	0.96223|0.96223	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403|ENST00000440571	T;T|.	0.46063|.	0.88;0.88|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.999|.	D;D;D|.	0.83275|.	0.996;0.992;0.996|.	T|T	0.72686|0.72686	-0.4218|-0.4218	10|5	0.51188|.	T|.	0.08|.	-14.3079|-14.3079	18.2928|18.2928	0.90136|0.90136	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	144;144;68|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	N|M	144|65	ENSP00000221232:S144N;ENSP00000383954:S144N|.	ENSP00000221232:S144N|.	S|V	+|+	2|1	0|0	CNOT3|CNOT3	59339828|59339828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.224000|9.224000	0.95209|0.95209	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	AGT|GTG	.	.	none		0.567	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		A	54648016	G	A	54648016	3	1	38	1	0	0	0	0	1	0	0	0	3620	1029	36	2	453	2	CNOT3	19	54648016	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	255117	54648016	4480967	220	23994										
KIR2DL3	3804	hgsc.bcm.edu	37	chr19	55255378	55255378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggagggggaggcccatgaacGtaggttctctgcagggccca	17	10	1	1	rs199625806	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr19:55255378G>C	ENST00000342376.3	+	4	537	c.506G>C	c.(505-507)cGt>cCt	p.R169P	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.R169P|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	169	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GCCCATGAACGTAGGTTCTCT	0.607													.|||	66	0.0131789	0.0	0.085	5008	,	,		10870	0.0069		0.0	False		,,,				2504	0.0				p.R169P		Atlas-SNP	.											KIR2DL3,NS,carcinoma,+1,1	KIR2DL3	68	1	0			c.G506C						scavenged	.	G	PRO/ARG	1,2109		0,1,1054	15	17	16		506	-1.4	0	19		16	1,4355		0,1,2177	no	missense	KIR2DL3	NM_015868.2	103	0,2,3231	CC,CG,GG		0.023,0.0474,0.0309		169/342	55255378	2,6464	1055	2178	3233	SO:0001583	missense	3804	exon4			ATGAACGTAGGTT	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.506G>C	19.37:g.55255378G>C	ENSP00000342215:p.Arg169Pro	Somatic	26	9	0.346154		WXS	Illumina HiSeq	Phase_I	27	26	0.962963	NM_015868	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	g	0.236	-1.017638	0.02078	4.74E-4	2.3E-4	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00678	5.87;5.87	0.682	-1.36	0.09085	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00524	0.0017	N	0.11870	0.19	0.09310	N	1	B;B;B	0.19817	0.039;0.004;0.004	B;B;B	0.20184	0.028;0.009;0.009	T	0.51180	-0.8738	8	0.72032	D	0.01	.	.	.	.	.	169;169;169	E3NZD7;P43628;E3NZD8	.;KI2L3_HUMAN;.	P	169	ENSP00000342215:R169P;ENSP00000415758:R169P	ENSP00000342215:R169P	R	+	2	0	KIR2DL3	59947190	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.580000	0.02121	-2.644000	0.00427	-3.498000	0.00033	CGT	.	.	weak		0.607	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			C	55255378	G	C	55255378	3	2	38	1	0	0	0	0	1	0	0	0	8317	1145	40	4	520	4	KIR2DL3	19	55255378	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	607362	55255378	3873605	221	23995										
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895963	1895963	+	Missense_Mutation	SNP	A	A	G													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tttcagacctcacaaagagaAacaacatggacttttccatc					rs373583167|rs386811662|rs17855613	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:1895963A>G	ENST00000358771.4	+	2	450	c.298A>G	c.(298-300)Aac>Gac	p.N100D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CACAAAGAGAAACAACATGGA	0.522																																					p.N100D	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,-2,4	SIRPA	83	4	0			c.A298G						scavenged	.																																			SO:0001583	missense	140885	exon3			AAGAGAAACAACA	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.298A>G	20.37:g.1895963A>G	ENSP00000351621:p.Asn100Asp	Somatic	139	10	0.0719424		WXS	Illumina HiSeq	Phase_I	132	11	0.0833333	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430951	0.25726	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02236	4.38;4.38;4.38	5.11	-5.69	0.02428	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.03651	0.0104	L	0.55481	1.735	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.0	B;B;B	0.24701	0.004;0.055;0.007	T	0.41875	-0.9484	10	0.51188	T	0.08	.	10.2665	0.43457	0.2384:0.1377:0.6239:0.0	rs17855613	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	100	ENSP00000382941:N100D;ENSP00000348307:N100D;ENSP00000351621:N100D	ENSP00000348307:N100D	N	+	1	0	SIRPA	1843963	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.479000	0.02327	-1.294000	0.02360	-0.388000	0.06559	AAC	.	.	weak		0.522	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895963	A	G	1895963	3	3	38	1	0	0	0	0	1	0	0	0	14332	14	1	2	304	2	SIRPA	20	1895963	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10		1895963	61129557	222	23996	489	2								
SIRPA	140885	hgsc.bcm.edu	37	chr20	1895965	1895965	+	Missense_Mutation	SNP	C	C	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tcagacctcacaaagagaaaCaacatggacttttccatccg					rs17855614|rs373583167|rs386811662	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:1895965C>A	ENST00000358771.4	+	2	452	c.300C>A	c.(298-300)aaC>aaA	p.N100K	SIRPA_ENST00000356025.3_Missense_Mutation_p.N100K|SIRPA_ENST00000400068.3_Missense_Mutation_p.N100K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	100	Ig-like V-type.		N -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAAAGAGAAACAACATGGACT	0.517													C|||	480	0.0958466	0.0386	0.1095	5008	,	,		14804	0.1835		0.0537	False		,,,				2504	0.1166				p.N100K	GBM(155;1668 1920 5945 42733 48121)	Atlas-SNP	.											SIRPA,brain,glioma,0,4	SIRPA	83	4	0			c.C300A						scavenged	.																																			SO:0001583	missense	140885	exon3			GAGAAACAACATG	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.300C>A	20.37:g.1895965C>A	ENSP00000351621:p.Asn100Lys	Somatic	138	10	0.0724638		WXS	Illumina HiSeq	Phase_I	131	11	0.0839695	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533326	0.27387	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02158	4.42;4.42;4.42	5.11	0.771	0.18504	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.743450	0.02696	N	0.111247	T	0.04634	0.0126	M	0.65975	2.015	0.09310	N	1	B;B;B	0.33299	0.003;0.407;0.039	B;B;B	0.31812	0.056;0.136;0.082	T	0.44345	-0.9334	10	0.72032	D	0.01	.	8.1767	0.31285	0.0:0.4423:0.4696:0.0881	rs17855614	80;100;100	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	K	100	ENSP00000382941:N100K;ENSP00000348307:N100K;ENSP00000351621:N100K	ENSP00000348307:N100K	N	+	3	2	SIRPA	1843965	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.328000	0.07945	0.028000	0.15324	-0.315000	0.08773	AAC	.	.	weak		0.517	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1895965	C	A	1895965	3	1	38	1	0	0	0	0	1	0	0	0	14332	477	17	4	306	4	SIRPA	20	1895965	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2	1895965	61129555	223	23997	489	2								
TGM3	7053	hgsc.bcm.edu	37	chr20	2312744	2312744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttcaatgggtttggaaacagAggaacaggagcccagcatca	12	8	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:2312744A>G	ENST00000381458.5	+	10	1493	c.1430A>G	c.(1429-1431)gAg>gGg	p.E477G		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	477					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTGGAAACAGAGGAACAGGAG	0.522																																					p.E477G		Atlas-SNP	.											.	TGM3	105	.	0			c.A1430G						PASS	.						77	67	71					20																	2312744		2203	4300	6503	SO:0001583	missense	7053	exon10			AAACAGAGGAACA	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1430A>G	20.37:g.2312744A>G	ENSP00000370867:p.Glu477Gly	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	169	64	0.378698	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.360470	0.24598	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.80393	-1.37	5.14	1.38	0.22167	.	1.225800	0.05291	N	0.521192	T	0.65228	0.2671	N	0.22421	0.69	0.09310	N	1	B	0.23128	0.08	B	0.15484	0.013	T	0.49234	-0.8961	10	0.25106	T	0.35	-13.1893	2.8138	0.05450	0.6238:0.1494:0.0829:0.1439	.	477	Q08188	TGM3_HUMAN	G	477	ENSP00000370867:E477G	ENSP00000370867:E477G	E	+	2	0	TGM3	2260744	0.002000	0.14202	0.003000	0.11579	0.016000	0.09150	0.221000	0.17680	0.403000	0.25479	0.533000	0.62120	GAG	.	.	none		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		G	2312744	A	G	2312744	3	3	38	1	0	0	0	0	1	0	0	0	15828	304	11	3	1468	3	TGM3	20	2312744	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	416779	2312744	60712776	224	23998										
LRRN4	164312	hgsc.bcm.edu	37	chr20	6033004	6033004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggcgagcgccagggcgcggaGgctgctcagcgcgggcccgg	21	14	1	0	rs6117050	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:6033004G>A	ENST00000378858.4	-	2	666	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	148					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGCGCGGAGGCTGCTCAGC	0.771													G|||	1252	0.25	0.0295	0.3804	5008	,	,		12105	0.4266		0.2455	False		,,,				2504	0.2781				p.L148F		Atlas-SNP	.											.	LRRN4	54	.	0			c.C442T						PASS	.	G	PHE/LEU	84,1652		0,84,784	2	2	2		442	5.3	0.5	20	dbSNP_114	2	753,3819		28,697,1561	no	missense	LRRN4	NM_152611.3	22	28,781,2345	AA,AG,GG		16.4698,4.8387,13.2689	probably-damaging	148/741	6033004	837,5471	868	2286	3154	SO:0001583	missense	164312	exon2			CGCGGAGGCTGCT	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.442C>T	20.37:g.6033004G>A	ENSP00000368135:p.Leu148Phe	Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	9	7	0.777778	NM_152611	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	CCDS13097.1	576	0.26373626373626374	16	0.032520325203252036	140	0.3867403314917127	236	0.4125874125874126	184	0.24274406332453827	G	17.75	3.466009	0.63625	0.048387	0.164698	ENSG00000125872	ENST00000378858	T	0.27256	1.68	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000039	T	0.00012	0.0000	H	0.95539	3.685	0.21897	P	0.99948733	D;D	0.89917	0.999;1.0	D;D	0.91635	0.977;0.999	T	0.38001	-0.9681	9	0.87932	D	0	-23.9152	14.8611	0.70382	0.0:0.1434:0.8566:0.0	rs6117050;rs60034875	148;148	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	F	148	ENSP00000368135:L148F	ENSP00000368135:L148F	L	-	1	0	LRRN4	5981004	1.000000	0.71417	0.524000	0.27887	0.152000	0.21847	3.302000	0.51849	2.629000	0.89072	0.591000	0.81541	CTC	G|0.736;A|0.264	0.264	strong		0.771	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		A	6033004	G	A	6033004	3	1	38	1	0	0	0	0	1	0	0	0	9037	1000	35	2	1796	2	LRRN4	20	6033004	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	3720260	6033004	56992516	225	23999										
TMX4	56255	hgsc.bcm.edu	37	chr20	7967957	7967957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gacccataaaaaggccaaaaAccaaggtggctatgacgaaa	9	9	0	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:7967957A>G	ENST00000246024.2	-	6	808	c.593T>C	c.(592-594)gTt>gCt	p.V198A	TMX4_ENST00000530935.1_5'Flank	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	198					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						AAGGCCAAAAACCAAGGTGGC	0.353																																					p.V198A		Atlas-SNP	.											.	TMX4	39	.	0			c.T593C						PASS	.						75	73	73					20																	7967957		2203	4300	6503	SO:0001583	missense	56255	exon6			CCAAAAACCAAGG		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.593T>C	20.37:g.7967957A>G	ENSP00000246024:p.Val198Ala	Somatic	540	0	0		WXS	Illumina HiSeq	Phase_I	445	120	0.269663	NM_021156	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309628	0.40895	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.41400	1.0;1.0	6.16	5.07	0.68467	.	0.500444	0.20258	N	0.095924	T	0.30916	0.0780	L	0.34521	1.04	0.25773	N	0.984812	B	0.21147	0.052	B	0.15870	0.014	T	0.18178	-1.0345	10	0.39692	T	0.17	-5.7309	9.0628	0.36444	0.9179:0.0:0.0821:0.0	.	198	Q9H1E5	TMX4_HUMAN	A	198;170	ENSP00000246024:V198A;ENSP00000435735:V170A	ENSP00000246024:V198A	V	-	2	0	TMX4	7915957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.750000	0.62162	1.148000	0.42385	0.528000	0.53228	GTT	.	.	none		0.353	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		G	7967957	A	G	7967957	3	3	38	1	0	0	0	0	1	0	0	0	16266	43	2	2	468	2	TMX4	20	7967957	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	1934953	7967957	55057563	226	24000										
PLCB1	23236	hgsc.bcm.edu	37	chr20	8741074	8741074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gttctgtaaaggcacctgccAaaacagaagatcttattcag	8	9	3	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:8741074A>C	ENST00000338037.6	+	25	2704	c.2677A>C	c.(2677-2679)Aaa>Caa	p.K893Q	PLCB1_ENST00000378641.3_Missense_Mutation_p.K893Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.K893Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	893					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGCACCTGCCAAAACAGAAGA	0.353																																					p.Q893Q		Atlas-SNP	.											.	PLCB1	394	.	0			c.C2677C						PASS	.						52	51	52					20																	8741074		2203	4300	6503	SO:0001583	missense	23236	exon25			CCTGCCAAAACAG	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2677A>C	20.37:g.8741074A>C	ENSP00000338185:p.Lys893Gln	Somatic	521	0	0		WXS	Illumina HiSeq	Phase_I	461	75	0.16269	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887080	0.33348	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.18960	2.18;2.18;2.18	6.07	6.07	0.98685	.	0.054036	0.64402	D	0.000001	T	0.15003	0.0362	N	0.25144	0.715	0.53688	D	0.999978	B;B	0.28378	0.209;0.02	B;B	0.24394	0.031;0.053	T	0.10847	-1.0612	10	0.13470	T	0.59	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	893;893	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Q	893;893;893;813;813	ENSP00000367908:K893Q;ENSP00000338185:K893Q;ENSP00000367904:K893Q	ENSP00000338185:K893Q	K	+	1	0	PLCB1	8689074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.476000	0.90421	2.326000	0.78906	0.533000	0.62120	AAA	.	.	none		0.353	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			C	8741074	A	C	8741074	3	2	38	1	0	0	0	0	1	0	0	0	12027	131	5	5	2775	5	PLCB1	20	8741074	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	773117	8741074	54284446	227	24001										
PLCB4	5332	hgsc.bcm.edu	37	chr20	9288481	9288481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	catggccaaaccttatgaatTtaactggcagaaggaagttc	9	8	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:9288481T>G	ENST00000378493.1	+	1	35	c.20T>G	c.(19-21)tTt>tGt	p.F7C	PLCB4_ENST00000378473.3_Missense_Mutation_p.F7C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.F7C|PLCB4_ENST00000334005.3_Missense_Mutation_p.F7C|PLCB4_ENST00000278655.4_Missense_Mutation_p.F7C|PLCB4_ENST00000414679.2_Missense_Mutation_p.F7C			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	7					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTTATGAATTTAACTGGCAG	0.328																																					p.F7C		Atlas-SNP	.											.	PLCB4	204	.	0			c.T20G						PASS	.						61	57	59					20																	9288481		2203	4299	6502	SO:0001583	missense	5332	exon2			ATGAATTTAACTG		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.20T>G	20.37:g.9288481T>G	ENSP00000367754:p.Phe7Cys	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	78	20	0.25641	NM_182797	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041460	0.75732	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000416836;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T;T	0.68765	0.5;0.51;1.84;1.87;0.37;-0.35;1.85;1.85;1.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81583	0.4853	M	0.75615	2.305	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.998;0.971;1.0	D	0.83766	0.0217	10	0.87932	D	0	.	15.2632	0.73640	0.0:0.0:0.0:1.0	.	7;7;7	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	C	7	ENSP00000385805:F7C;ENSP00000412982:F7C;ENSP00000334105:F7C;ENSP00000367734:F7C;ENSP00000391614:F7C;ENSP00000395753:F7C;ENSP00000278655:F7C;ENSP00000367754:F7C;ENSP00000367762:F7C	ENSP00000278655:F7C	F	+	2	0	PLCB4	9236481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.792000	0.69052	2.248000	0.74166	0.533000	0.62120	TTT	.	.	none		0.328	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			G	9288481	T	G	9288481	3	3	38	1	0	0	0	0	1	0	0	0	12030	1841	64	5	22	5	PLCB4	20	9288481	Missense_Mutation	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	547407	9288481	53737039	228	24002										
NINL	22981	hgsc.bcm.edu	37	chr20	25457204	25457204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccactccacagggctgcatgCgtgaccacctctctgagggg	12	15	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:25457204C>T	ENST00000278886.6	-	17	2796	c.2723G>A	c.(2722-2724)cGc>cAc	p.R908H	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	908					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						GGGCTGCATGCGTGACCACCT	0.711																																					p.R908H		Atlas-SNP	.											.	NINL	148	.	0			c.G2723A						PASS	.						10	13	12					20																	25457204		2045	4077	6122	SO:0001583	missense	22981	exon17			TGCATGCGTGACC		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.2723G>A	20.37:g.25457204C>T	ENSP00000278886:p.Arg908His	Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172044	0.06421	.	.	ENSG00000101004	ENST00000278886	T	0.23754	1.89	2.27	-4.54	0.03452	.	7.030270	0.00166	N	0.000001	T	0.11024	0.0269	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	10	0.33141	T	0.24	6.6904	5.9106	0.19027	0.0:0.5264:0.1852:0.2884	.	908	Q9Y2I6	NINL_HUMAN	H	908	ENSP00000278886:R908H	ENSP00000278886:R908H	R	-	2	0	NINL	25405204	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.476000	0.01874	-2.579000	0.00168	CGC	.	.	none		0.711	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25457204	C	T	25457204	3	4	38	1	0	0	0	0	1	0	0	0	10420	768	27	1	1457	1	NINL	20	25457204	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	16168723	25457204	37568316	229	24003										
EPB41L1	2036	hgsc.bcm.edu	37	chr20	34775618	34775618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggggatgaccccgggagaagCagaaatccacttcttagaga	13	9	1	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:34775618C>T	ENST00000338074.2	+	8	967	c.806C>T	c.(805-807)gCa>gTa	p.A269V	EPB41L1_ENST00000202028.5_Missense_Mutation_p.A207V|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A238V|EPB41L1_ENST00000373941.1_Missense_Mutation_p.A269V|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A207V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A172V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	269	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCGGGAGAAGCAGAAATCCAC	0.537																																					p.A269V		Atlas-SNP	.											.	EPB41L1	111	.	0			c.C806T						PASS	.						64	57	59					20																	34775618		2203	4300	6503	SO:0001583	missense	2036	exon9			GAGAAGCAGAAAT	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.806C>T	20.37:g.34775618C>T	ENSP00000337168:p.Ala269Val	Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	78	18	0.230769	NM_001258329	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	36	5.903422	0.97087	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	6.17	6.17	0.99709	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	.	.	.	.	D	0.93877	0.8041	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.969;0.999;0.914;0.998;0.996;0.955	D	0.94417	0.7637	9	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	269;269;238;172;172;207	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	V	207;207;172;269;172;207;238;269;269	ENSP00000202028:A207V;ENSP00000404341:A207V;ENSP00000363061:A172V;ENSP00000399214:A207V;ENSP00000363057:A238V;ENSP00000337168:A269V;ENSP00000363052:A269V	ENSP00000202028:A207V	A	+	2	0	EPB41L1	34239032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCA	.	.	none		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		T	34775618	C	T	34775618	3	4	38	1	0	0	0	0	1	0	0	0	5152	710	25	2	832	2	EPB41L1	20	34775618	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	9318414	34775618	28249902	230	24004										
TNFRSF6B	8771	hgsc.bcm.edu	37	chr20	62328311	62328311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tgtgcagcggccgtgccgccGagacagccccacgacgtgtg	15	15	0	1	rs61760056		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr20:62328311G>T	ENST00000369996.1	+	1	291	c.191G>T	c.(190-192)cGa>cTa	p.R64L	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P1366P|RTEL1_ENST00000318100.4_Silent_p.P1366P	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	64					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCGTGCCGCCGAGACAGCCCC	0.687																																					p.R64L		Atlas-SNP	.											.	TNFRSF6B	22	.	0			c.G191T						PASS	.						19	22	21					20																	62328311		2180	4277	6457	SO:0001583	missense	8771	exon1			GCCGCCGAGACAG	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.191G>T	20.37:g.62328311G>T	ENSP00000359013:p.Arg64Leu	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	62	20	0.322581	NM_003823		Missense_Mutation	SNP	ENST00000369996.1	37	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	8.280	0.815343	0.16607	.	.	ENSG00000243509	ENST00000370006;ENST00000369996;ENST00000342852	T	0.75704	-0.96	3.89	-1.07	0.09968	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.56790	0.2009	L	0.38531	1.155	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.43877	-0.9364	9	0.40728	T	0.16	-8.2878	1.7996	0.03068	0.2662:0.2449:0.3654:0.1235	.	64	O95407	TNF6B_HUMAN	L	64	ENSP00000359013:R64L	ENSP00000342328:R64L	R	+	2	0	TNFRSF6B	61798755	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.243000	0.08915	0.132000	0.18615	0.561000	0.74099	CGA	.	.	alt		0.687	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			T	62328311	G	T	62328311	3	4	38	1	0	0	0	0	1	0	0	0	16295	1058	37	4	193	4	TNFRSF6B	20	62328311	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	27552693	62328311	697209	231	24005										
HUNK	30811	hgsc.bcm.edu	37	chr21	33318469	33318469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aagaaatacggccccaaaatCgatgtctggtccatgtgagt	10	9	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr21:33318469C>T	ENST00000270112.2	+	4	1092	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCCCAAAATCGATGTCTGGT	0.527																																					p.I244I		Atlas-SNP	.											.	HUNK	74	.	0			c.C732T						PASS	.						89	76	80					21																	33318469		2203	4300	6503	SO:0001819	synonymous_variant	30811	exon4			CAAAATCGATGTC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.732C>T	21.37:g.33318469C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	62	11	0.177419	NM_014586		Silent	SNP	ENST00000270112.2	37	CCDS13610.1																																																																																			.	.	none		0.527	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		T	33318469	C	T	33318469	2	4	38	1	0	0	0	0	0	0	0	1	7458	874	31	1		1	HUNK	21	33318469	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		33318469	14811426	232	24006										
RIPK4	54101	hgsc.bcm.edu	37	chr21	43161063	43161063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gccctggaacttgaggctctGcaggttgatgtgggccccat	14	11	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr21:43161063G>T	ENST00000352483.2	-	9	2498	c.2434C>A	c.(2434-2436)Cag>Aag	p.Q812K	RIPK4_ENST00000542057.1_Missense_Mutation_p.Q701K|RIPK4_ENST00000332512.3_Missense_Mutation_p.Q764K|RIPK4_ENST00000544709.1_Missense_Mutation_p.Q701K|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	812					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGAGGCTCTGCAGGTTGATG	0.711																																					p.Q764K		Atlas-SNP	.											.	RIPK4	151	.	0			c.C2290A						PASS	.						41	40	40					21																	43161063		2202	4298	6500	SO:0001583	missense	54101	exon8			GGCTCTGCAGGTT	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2434C>A	21.37:g.43161063G>T	ENSP00000330161:p.Gln812Lys	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	45	18	0.4	NM_020639	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	G	14.76	2.631833	0.46944	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	4.8	4.8	0.61643	.	0.000000	0.49916	D	0.000129	T	0.46889	0.1416	N	0.12471	0.22	0.29208	N	0.874744	P	0.36837	0.571	B	0.39027	0.288	T	0.43163	-0.9408	10	0.22109	T	0.4	-41.9581	16.842	0.85971	0.0:0.0:1.0:0.0	.	764	P57078-2	.	K	764;812;701;701	ENSP00000332454:Q764K;ENSP00000330161:Q812K;ENSP00000441754:Q701K;ENSP00000442901:Q701K	ENSP00000332454:Q764K	Q	-	1	0	RIPK4	42034132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.202000	0.70862	0.655000	0.94253	CAG	.	.	none		0.711	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		T	43161063	G	T	43161063	3	4	38	1	0	0	0	0	1	0	0	0	13383	1328	46	4	68	4	RIPK4	21	43161063	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	9842594	43161063	4968832	233	24007										
PRDM15	63977	hgsc.bcm.edu	37	chr21	43256244	43256244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cgttcctgctgtgcttgtagGaaacgtgctgctttaggctc	12	10	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr21:43256244G>A	ENST00000269844.3	-	17	2464	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	PRDM15_ENST00000398548.1_Missense_Mutation_p.S456F|PRDM15_ENST00000447207.2_Missense_Mutation_p.S419F|PRDM15_ENST00000538201.1_Missense_Mutation_p.S419F|PRDM15_ENST00000422911.1_Missense_Mutation_p.S456F	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	785					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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCTTGTAGGAAACGTGCTG	0.488																																					p.S785F		Atlas-SNP	.											.	PRDM15	110	.	0			c.C2354T						PASS	.						254	186	209					21																	43256244		2203	4300	6503	SO:0001583	missense	63977	exon17			TTGTAGGAAACGT	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2354C>T	21.37:g.43256244G>A	ENSP00000269844:p.Ser785Phe	Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	133	28	0.210526	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	17.29	3.353248	0.61293	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;3.06	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86585	0.5968	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.88273	0.2931	9	0.66056	D	0.02	-23.6982	15.9984	0.80268	0.0:0.0:1.0:0.0	.	785;456;456	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	F	456;456;419;419;785;419	ENSP00000408592:S456F;ENSP00000381556:S456F;ENSP00000444044:S419F;ENSP00000390245:S419F;ENSP00000269844:S785F	ENSP00000269844:S785F	S	-	2	0	PRDM15	42129313	1.000000	0.71417	0.737000	0.30932	0.077000	0.17291	9.586000	0.98226	1.998000	0.58463	0.651000	0.88453	TCC	.	.	none		0.488	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43256244	G	A	43256244	3	1	38	1	0	0	0	0	1	0	0	0	12456	1174	41	2	2229	2	PRDM15	21	43256244	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	95181	43256244	4873651	234	24008										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230302	23230302	+	Silent	SNP	C	C	T													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggccctggtcccaggcagcgCtggcccctgctgctgctggg					rs546631945		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230302C>T	ENST00000526893.1	+	1	343	c.69C>T	c.(67-69)cgC>cgT	p.R23R	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.R23R|IGLL5_ENST00000532223.2_Silent_p.R23R	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	23						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAGGCAGCGCTGGCCCCTGC	0.672																																					p.R23R		Atlas-SNP	.											.	IGLL5	26	.	0			c.C69T						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GCAGCGCTGGCCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.69C>T	22.37:g.23230302C>T		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	155	51	0.329032	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230302	C	T	23230302	2	4	38	1	0	0	0	0	0	0	0	1	7594	784	28	2		2	IGLL5	22	23230302	Silent	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10		23230302	28074264	235	24009	490	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230311	23230311	+	Silent	SNP	G	G	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cccaggcagcgctggcccctGctgctgctgggtctggccat					rs551962377	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230311G>A	ENST00000526893.1	+	1	352	c.78G>A	c.(76-78)ctG>ctA	p.L26L	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.L26L|IGLL5_ENST00000532223.2_Silent_p.L26L	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	26						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCTGGCCCCTGCTGCTGCTGG	0.667																																					p.L26L		Atlas-SNP	.											.	IGLL5	26	.	0			c.G78A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GCCCCTGCTGCTG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.78G>A	22.37:g.23230311G>A		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	146	49	0.335616	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230311	G	A	23230311	2	1	38	1	0	0	0	0	0	0	0	1	7594	1306	46	2		2	IGLL5	22	23230311	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	9	23230311	28074255	236	24010	490	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230326	23230326	+	Silent	SNP	G	G	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cccctgctgctgctgggtctGgccatggtcgcccatggcct							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230326G>A	ENST00000526893.1	+	1	367	c.93G>A	c.(91-93)ctG>ctA	p.L31L	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.L31L|IGLL5_ENST00000532223.2_Silent_p.L31L	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	31						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGCTGGGTCTGGCCATGGTCG	0.667																																					p.L31L		Atlas-SNP	.											.	IGLL5	26	.	0			c.G93A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			GGGTCTGGCCATG	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.93G>A	22.37:g.23230326G>A		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	139	31	0.223022	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.667	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230326	G	A	23230326	2	1	38	1	0	0	0	0	0	0	0	1	7594	1335	47	2		2	IGLL5	22	23230326	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	15	23230326	28074240	237	24011	491	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230328	23230328	+	Missense_Mutation	SNP	C	C	T													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cctgctgctgctgggtctggCcatggtcgcccatggcctgc					rs545109780	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230328C>T	ENST00000526893.1	+	1	369	c.95C>T	c.(94-96)gCc>gTc	p.A32V	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.A32V|IGLL5_ENST00000532223.2_Missense_Mutation_p.A32V	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	32						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTGGGTCTGGCCATGGTCGCC	0.672													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		12180	0.0		0.0	False		,,,				2504	0.0				p.A32V		Atlas-SNP	.											.	IGLL5	26	.	0			c.C95T						PASS	.																																			SO:0001583	missense	100423062	exon1			GTCTGGCCATGGT	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.95C>T	22.37:g.23230328C>T	ENSP00000431254:p.Ala32Val	Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	134	30	0.223881	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463570	0.26248	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00569	6.52;6.52	3.92	-1.21	0.09524	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.42155	-0.9468	9	0.46703	T	0.11	.	0.7979	0.01069	0.1873:0.383:0.2094:0.2203	.	32	B9A064	IGLL5_HUMAN	V	32	ENSP00000436353:A32V;ENSP00000431254:A32V	ENSP00000431254:A32V	A	+	2	0	IGLL5	21560328	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.047000	0.11963	-0.086000	0.12550	0.643000	0.83706	GCC	.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23230328	C	T	23230328	3	4	38	1	0	0	0	0	1	0	0	0	7594	739	26	2	97	2	IGLL5	22	23230328	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	2	23230328	28074238	238	24012	491	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230359	23230359	+	Missense_Mutation	SNP	G	G	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	catggcctgctgcgcccaatGgttgcaccgcaaagcgggga					rs536568891	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230359G>A	ENST00000526893.1	+	1	400	c.126G>A	c.(124-126)atG>atA	p.M42I	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.M42I|IGLL5_ENST00000532223.2_Missense_Mutation_p.M42I	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	42						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGCGCCCAATGGTTGCACCGC	0.672													G|||	2	0.000399361	0.0008	0.0	5008	,	,		11398	0.001		0.0	False		,,,				2504	0.0				p.W7X		Atlas-SNP	.											.	IGLL5	26	.	0			c.G20A						PASS	.																																			SO:0001583	missense	100423062	exon1			CCCAATGGTTGCA	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.126G>A	22.37:g.23230359G>A	ENSP00000431254:p.Met42Ile	Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	124	29	0.233871	NM_001256296		Nonsense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503640	0.26949	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00558	6.61;6.61	3.81	-7.61	0.01299	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.43956	-0.9359	9	0.52906	T	0.07	.	6.9861	0.24729	0.6223:0.0:0.1512:0.2265	.	42	B9A064	IGLL5_HUMAN	I	42	ENSP00000436353:M42I;ENSP00000431254:M42I	ENSP00000431254:M42I	M	+	3	0	IGLL5	21560359	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.041000	0.00632	-2.254000	0.00697	0.643000	0.83706	ATG	.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230359	G	A	23230359	3	1	38	1	0	0	0	0	1	0	0	0	7594	1348	47	2	128	2	IGLL5	22	23230359	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	31	23230359	28074207	239	24013	492	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230360	23230360	+	Missense_Mutation	SNP	G	G	A													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	atggcctgctgcgcccaatgGttgcaccgcaaagcggggac					rs6003368	byFrequency	TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230360G>A	ENST00000526893.1	+	1	401	c.127G>A	c.(127-129)Gtt>Att	p.V43I	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.V43I|IGLL5_ENST00000532223.2_Missense_Mutation_p.V43I	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	43						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCGCCCAATGGTTGCACCGCA	0.672																																					p.W7X		Atlas-SNP	.											.	IGLL5	26	.	0			c.G21A						PASS	.																																			SO:0001583	missense	100423062	exon1			CCAATGGTTGCAC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.127G>A	22.37:g.23230360G>A	ENSP00000431254:p.Val43Ile	Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	121	28	0.231405	NM_001256296		Nonsense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187440	0.21870	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00568	6.53;6.53	3.92	0.473	0.16763	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.44034	-0.9354	9	0.49607	T	0.09	.	2.3416	0.04261	0.1095:0.1927:0.4993:0.1985	rs6003368;rs6003368	43	B9A064	IGLL5_HUMAN	I	43	ENSP00000436353:V43I;ENSP00000431254:V43I	ENSP00000431254:V43I	V	+	1	0	IGLL5	21560360	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.128000	0.03247	0.192000	0.20272	0.643000	0.83706	GTT	G|1.000;|0.000	.	weak		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230360	G	A	23230360	3	1	38	1	0	0	0	0	1	0	0	0	7594	1261	44	2	129	2	IGLL5	22	23230360	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	1	23230360	28074206	240	24014	492	2	3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230389	23230389	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	caaagcggggacccagacccTggagcctcagttggaagcag	14	12	1	1	rs576960332		TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230389T>A	ENST00000526893.1	+	1	430	c.156T>A	c.(154-156)ccT>ccA	p.P52P	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.P52P|IGLL5_ENST00000532223.2_Silent_p.P52P	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	52						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						ACCCAGACCCTGGAGCCTCAG	0.677																																					p.L17Q		Atlas-SNP	.											.	IGLL5	26	.	0			c.T50A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			AGACCCTGGAGCC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.156T>A	22.37:g.23230389T>A		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	115	22	0.191304	NM_001256296		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.677	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230389	T	A	23230389	2	1	38	1	0	0	0	0	0	0	0	1	7594	1567	55	5		5	IGLL5	22	23230389	Silent	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	29	23230389	28074177	241	24015			3	108		8	5	108	N	T_G_C	2.090165e-14
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230409	23230409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggagcctcagttggaagcaGccgatccagcctgcggagcc	14	13	1	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:23230409G>A	ENST00000526893.1	+	1	450	c.176G>A	c.(175-177)aGc>aAc	p.S59N	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.S59N|IGLL5_ENST00000532223.2_Missense_Mutation_p.S59N	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	59						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GTTGGAAGCAGCCGATCCAGC	0.657																																					p.S59N		Atlas-SNP	.											.	IGLL5	26	.	0			c.G176A						PASS	.																																			SO:0001583	missense	100423062	exon1			GAAGCAGCCGATC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.176G>A	22.37:g.23230409G>A	ENSP00000431254:p.Ser59Asn	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	98	36	0.367347	NM_001178126		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267343	0.23136	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00583	6.41;6.41	3.92	-0.797	0.10909	.	.	.	.	.	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.17098	0.017	T	0.45056	-0.9287	9	0.59425	D	0.04	.	3.0635	0.06207	0.2132:0.0:0.4153:0.3715	.	59	B9A064	IGLL5_HUMAN	N	59	ENSP00000436353:S59N;ENSP00000431254:S59N	ENSP00000431254:S59N	S	+	2	0	IGLL5	21560409	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.100000	0.10990	-0.036000	0.13669	-0.196000	0.12772	AGC	.	.	none		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230409	G	A	23230409	3	1	38	1	0	0	0	0	1	0	0	0	7594	971	34	2	178	2	IGLL5	22	23230409	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	20	23230409	28074157	242	24016			3	108		8	5	108	N	T_G_C	2.090165e-14
SUSD2	56241	hgsc.bcm.edu	37	chr22	24583607	24583607	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	tggtccacaacttcctgtacCaacccaagcacgaccccacc	5	19	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:24583607C>T	ENST00000358321.3	+	12	2221	c.1960C>T	c.(1960-1962)Caa>Taa	p.Q654*		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	654	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTTCCTGTACCAACCCAAGCA	0.607																																					p.Q654X		Atlas-SNP	.											.	SUSD2	68	.	0			c.C1960T						PASS	.						170	136	148					22																	24583607		2203	4300	6503	SO:0001587	stop_gained	56241	exon12			CTGTACCAACCCA	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1960C>T	22.37:g.24583607C>T	ENSP00000351075:p.Gln654*	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	92	30	0.326087	NM_019601	Q9H5Y6	Nonsense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727593	0.97792	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.52	-4.27	0.03744	.	0.879590	0.09795	N	0.754864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.0961	12.2189	0.54423	0.1287:0.2034:0.6679:0.0	.	.	.	.	X	654	.	ENSP00000351075:Q654X	Q	+	1	0	SUSD2	22913607	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	0.100000	0.15231	-0.175000	0.10725	0.505000	0.49811	CAA	.	.	none		0.607	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		T	24583607	C	T	24583607	4	4	38	1	0	0	0	0	0	1	0	0	15405	595	21	2	2006	2	SUSD2	22	24583607	Nonsense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	1353198	24583607	26720959	243	24017										
BPIL2	254240	hgsc.bcm.edu	37	chr22	32841910	32841910	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cagggtaggatgaccaaagtCatttcgggttaggataatga	13	5	1	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:32841910C>A	ENST00000397452.1	-	5	558	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.D150Y|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	150						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGACCAAAGTCATTTCGGGTT	0.498																																					p.D150Y		Atlas-SNP	.											BPIL2,NS,carcinoma,0,1	.	.	1	0			c.G448T						PASS	.						88	91	90					22																	32841910		2203	4300	6503	SO:0001583	missense	254240	exon4			CAAAGTCATTTCG	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.448G>T	22.37:g.32841910C>A	ENSP00000380594:p.Asp150Tyr	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	113	15	0.132743	NM_174932	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013664	0.35511	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05855	3.38;3.38	5.71	2.48	0.30137	.	0.908340	0.09747	N	0.761146	T	0.13670	0.0331	M	0.75447	2.3	0.09310	N	0.999999	P	0.48589	0.912	P	0.47528	0.549	T	0.14924	-1.0455	10	0.66056	D	0.02	-2.0646	8.4699	0.32980	0.0:0.7511:0.0:0.2489	.	150	Q8NFQ6	BPIFC_HUMAN	Y	150	ENSP00000380594:D150Y;ENSP00000300399:D150Y	ENSP00000300399:D150Y	D	-	1	0	BPIFC	31171910	0.000000	0.05858	0.506000	0.27664	0.169000	0.22640	-0.863000	0.04259	0.792000	0.33850	0.650000	0.86243	GAC	.	.	none		0.498	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		A	32841910	C	A	32841910	3	1	38	1	0	0	0	0	1	0	0	0	1492	826	29	4	1123	4	BPIL2	22	32841910	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	8258303	32841910	18462656	244	24018										
CYTH4	27128	hgsc.bcm.edu	37	chr22	37707035	37707035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttggccttgcgcagggggccGcgtgaagacgtggaaacggc	18	10	0	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:37707035G>T	ENST00000248901.6	+	10	1002	c.815G>T	c.(814-816)cGc>cTc	p.R272L		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	272	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Phosphatidylinositol 3,4,5-trisphosphate binding. {ECO:0000250}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCAGGGGGCCGCGTGAAGACG	0.617																																					p.R272L		Atlas-SNP	.											CYTH4,NS,carcinoma,+1,1	CYTH4	51	1	0			c.G815T						scavenged	.						150	124	133					22																	37707035		2203	4300	6503	SO:0001583	missense	27128	exon10			GGGGCCGCGTGAA	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.815G>T	22.37:g.37707035G>T	ENSP00000248901:p.Arg272Leu	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	63	2	0.031746	NM_013385	Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117334	0.77323	.	.	ENSG00000100055	ENST00000248901	T	0.74002	-0.8	4.52	4.52	0.55395	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.60957	1.885	0.80722	D	1	B	0.28552	0.215	B	0.35510	0.204	T	0.74697	-0.3578	10	0.46703	T	0.11	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	272	Q9UIA0	CYH4_HUMAN	L	272	ENSP00000248901:R272L	ENSP00000248901:R272L	R	+	2	0	CYTH4	36036981	0.998000	0.40836	0.989000	0.46669	0.982000	0.71751	7.930000	0.87610	2.200000	0.70718	0.655000	0.94253	CGC	.	.	none		0.617	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			T	37707035	G	T	37707035	3	4	38	1	0	0	0	0	1	0	0	0	4206	1087	38	4	853	4	CYTH4	22	37707035	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	4865125	37707035	13597531	245	24019										
TYMP	1890	hgsc.bcm.edu	37	chr22	50966942	50966942	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	gatccgtggcgccccgtaccTgctctgggctctggatgaca	13	14	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chr22:50966942T>A	ENST00000252029.3	-	4	677	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	SCO2_ENST00000395693.3_5'Flank|TYMP_ENST00000395680.1_Splice_Site_p.Q172L|SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Splice_Site_p.Q172L|TYMP_ENST00000395681.1_Splice_Site_p.Q172L|SCO2_ENST00000535425.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	172					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GCCCCGTACCTGCTCTGGGCT	0.527																																					p.Q172L		Atlas-SNP	.											TYMP,NS,carcinoma,-1,1	TYMP	25	1	0			c.A515T						PASS	.						108	81	90					22																	50966942		2203	4300	6503	SO:0001630	splice_region_variant	1890	exon4			CGTACCTGCTCTG	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.516+1A>T	22.37:g.50966942T>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	44	14	0.318182	NM_001257989	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544117	0.65198	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	4.66	4.66	0.58398	Glycosyl transferase, family 3 (3);	0.068178	0.64402	D	0.000011	D	0.96172	0.8752	L	0.57536	1.79	0.54753	D	0.999983	P;P;P	0.45531	0.86;0.563;0.563	B;B;B	0.37015	0.239;0.159;0.159	D	0.96009	0.9000	10	0.72032	D	0.01	-6.6403	12.0967	0.53758	0.0:0.0:0.0:1.0	.	172;172;172	B4DVR2;E5KRG5;P19971	.;.;TYPH_HUMAN	L	172	ENSP00000379037:Q172L;ENSP00000379038:Q172L;ENSP00000252029:Q172L;ENSP00000379036:Q172L	ENSP00000252029:Q172L	Q	-	2	0	TYMP	49313808	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.408000	0.73285	1.961000	0.56991	0.454000	0.30748	CAG	.	.	none		0.527	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	Missense_Mutation	A	50966942	T	A	50966942	5	1	38	1	0	0	0	0	0	0	1	0	16808	1594	55	5	961	5	TYMP	22	50966942	Splice_Site	SNP	T	TCGA-RQ-A68N-01A-11D-A31X-10	13259907	50966942	337624	246	24020										
NR0B1	190	hgsc.bcm.edu	37	chrX	30326889	30326889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ttcaccgcaaaagcagcagcGgtacagaagcgccgtggccc	12	14	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:30326889G>A	ENST00000378970.4	-	1	826	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.R198C	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	198	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AAGCAGCAGCGGTACAGAAGC	0.701											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R198C		Atlas-SNP	.											.	NR0B1	61	.	0			c.C592T						PASS	.						10	8	8					X																	30326889		2170	4233	6403	SO:0001583	missense	190	exon1			AGCAGCGGTACAG	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.592C>T	X.37:g.30326889G>A	ENSP00000368253:p.Arg198Cys	Somatic	86	0	0	816	WXS	Illumina HiSeq	Phase_I	128	99	0.773438	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636797	0.29068	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98207	-3.84;-4.79	3.84	1.96	0.26148	.	0.363841	0.22773	N	0.055806	D	0.98419	0.9474	M	0.71581	2.175	0.19775	N	0.999955	D	0.89917	1.0	D	0.73708	0.981	D	0.95009	0.8150	10	0.87932	D	0	-22.9197	11.7993	0.52118	0.0:0.3317:0.6683:0.0	.	198	P51843	NR0B1_HUMAN	C	198	ENSP00000368253:R198C;ENSP00000396403:R198C	ENSP00000368253:R198C	R	-	1	0	NR0B1	30236810	.	.	0.104000	0.21259	0.483000	0.33249	.	.	0.381000	0.24851	0.466000	0.42574	CGC	.	.	none		0.701	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		A	30326889	G	A	30326889	3	1	38	1	0	0	0	0	1	0	0	0	10613	1116	39	1	828	1	NR0B1	23	30326889	Missense_Mutation	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10		30326889	124943671	247	24021										
LANCL3	347404	hgsc.bcm.edu	37	chrX	37431669	37431669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggttacctgtgtgccgcgctGgtgctcaagcagaaactcgc	13	12	1	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:37431669G>A	ENST00000378619.3	+	1	765	c.546G>A	c.(544-546)ctG>ctA	p.L182L	LANCL3_ENST00000378621.3_Silent_p.L182L|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	182							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GTGCCGCGCTGGTGCTCAAGC	0.711																																					p.L182L		Atlas-SNP	.											.	LANCL3	42	.	0			c.G546A						PASS	.						4	5	5					X																	37431669		2102	4096	6198	SO:0001819	synonymous_variant	347404	exon1			CGCGCTGGTGCTC	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.546G>A	X.37:g.37431669G>A		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	75	61	0.813333	NM_001170331	A6NHE3	Silent	SNP	ENST00000378619.3	37	CCDS55398.1																																																																																			.	.	none		0.711	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		A	37431669	G	A	37431669	2	1	38	1	0	0	0	0	0	0	0	1	8622	1335	47	2		2	LANCL3	23	37431669	Silent	SNP	G	TCGA-RQ-A68N-01A-11D-A31X-10	7104780	37431669	117838891	248	24022										
FAM104B	90736	hgsc.bcm.edu	37	chrX	55187411	55187411	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ccggccaacactgtcacctgCaggtcatgagagccgagcgc	12	15	2	1			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:55187411C>T	ENST00000358460.4	-	1	174				FAM104B_ENST00000477847.2_Missense_Mutation_p.C3Y|FAM104B_ENST00000472571.2_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_5'UTR|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000425133.2_Intron			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTGTCACCTGCAGGTCATGAG	0.592																																					p.C3Y		Atlas-SNP	.											.	FAM104B	28	.	0			c.G8A						PASS	.						44	44	44					X																	55187411		692	1591	2283	SO:0001627	intron_variant	90736	exon1			CACCTGCAGGTCA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.20+158G>A	X.37:g.55187411C>T		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	32	25	0.78125	NM_001166702	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	6.691	0.496119	0.12762	.	.	ENSG00000182518	ENST00000477847	T	0.41400	1.0	1.76	-0.296	0.12824	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.09310	N	0.999992	.	.	.	.	.	.	T	0.27706	-1.0066	6	.	.	.	.	7.3096	0.26467	0.0:0.4049:0.5951:0.0	.	.	.	.	Y	3	ENSP00000421161:C3Y	.	C	-	2	0	FAM104B	55204136	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.057000	0.01395	-0.167000	0.10871	0.292000	0.19580	TGC	.	.	none		0.592	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		T	55187411	C	T	55187411	1	4	38	0	1	0	0	0	0	0	0	0	5386	710	25	2		2	FAM104B	23	55187411	Intron	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	17755742	55187411	100083149	249	24023										
CPXCR1	53336	hgsc.bcm.edu	37	chrX	88009293	88009293	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	cacttactctgaattaagacAacattcatgcagctcttctg	5	11	4	2			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:88009293A>T	ENST00000276127.4	+	3	1137	c.878A>T	c.(877-879)cAa>cTa	p.Q293L	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q293L	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	293							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GAATTAAGACAACATTCATGC	0.299																																					p.Q293L		Atlas-SNP	.											.	CPXCR1	83	.	0			c.A878T						PASS	.						40	40	40					X																	88009293		2198	4294	6492	SO:0001583	missense	53336	exon3			TAAGACAACATTC	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.878A>T	X.37:g.88009293A>T	ENSP00000276127:p.Gln293Leu	Somatic	166	0	0		WXS	Illumina HiSeq	Phase_I	170	51	0.3	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	0.749	-0.773453	0.02951	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.01527	4.8;4.8	3.42	0.89	0.19218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	1.490400	0.04667	N	0.409900	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.49588	-0.8924	9	.	.	.	2.5471	4.0038	0.09592	0.695:0.0:0.1198:0.1852	.	293	Q8N123	CPXCR_HUMAN	L	293	ENSP00000276127:Q293L;ENSP00000362203:Q293L	.	Q	+	2	0	CPXCR1	87895949	0.028000	0.19301	0.002000	0.10522	0.000000	0.00434	0.297000	0.19101	-0.207000	0.10187	-1.278000	0.01390	CAA	.	.	none		0.299	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		T	88009293	A	T	88009293	3	4	38	1	0	0	0	0	1	0	0	0	3836	130	5	5	880	5	CPXCR1	23	88009293	Missense_Mutation	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	32821882	88009293	67261267	250	24024										
COL4A5	1287	hgsc.bcm.edu	37	chrX	107816878	107816878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	ggatatccaggtcctcctggAatacaagtaagtatccagtg	10	9	0	0			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:107816878A>G	ENST00000361603.2	+	9	784	c.540A>G	c.(538-540)ggA>ggG	p.G180G	COL4A5_ENST00000328300.6_Silent_p.G180G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	180	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTCCTGGAATACAAGTAA	0.378									Alport syndrome with Diffuse Leiomyomatosis																												p.G180G		Atlas-SNP	.											.	COL4A5	262	.	0			c.A540G						PASS	.						111	105	107					X																	107816878		2203	4300	6503	SO:0001819	synonymous_variant	1287	exon9	Familial Cancer Database		TCCTGGAATACAA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.540A>G	X.37:g.107816878A>G		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	142	12	0.084507	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																			.	.	none		0.378	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107816878	A	G	107816878	2	3	38	1	0	0	0	0	0	0	0	1	3694	233	9	2		2	COL4A5	23	107816878	Silent	SNP	A	TCGA-RQ-A68N-01A-11D-A31X-10	19807585	107816878	47453682	251	24025										
SLC25A5	292	hgsc.bcm.edu	37	chrX	118603681	118603681	+	Frame_Shift_Del	DEL	T	T	-													0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	aatacaaaggcattatagacTgcgtggtccgtattcccaag							TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:118603681delT	ENST00000317881.8	+	2	285	c.169delT	c.(169-171)tgcfs	p.C57fs	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	57					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CATTATAGACTGCGTGGTCCG	0.512																																					p.D56fs		Pindel	.											.	SLC25A5	33	.	0			c.168delC						PASS	.						211	203	206					X																	118603681		2203	4300	6503	SO:0001589	frameshift_variant	292	exon2			.	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.169delT	X.37:g.118603681delT	ENSP00000360671:p.Cys57fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	24	24	1	NM_001152	B2RCV1|O43350	Frame_Shift_Del	DEL	ENST00000317881.8	37	CCDS14578.1																																																																																			.	.	none		0.512	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		-	118603681	T	-	118603681	7	5	38	1	0	1	0	1	0	0	0	0	14512	1580	55	0	175	0	SLC25A5	23	118603681	Frame_Shift_Del	DEL	T	TCGA-RQ-A68N-01A-11D-A31X-10	10786803	118603681	36666879	252	24026										
GPR101	83550	hgsc.bcm.edu	37	chrX	136113230	136113230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.048582995951417	12	1	0.698593073593074	0.441216678058783	0.737714285714286	0.00109803113140154	0.00605968175522182	0	catgacaatcagtggaatgaCgatgaaggacaccacgctga	11	9	1	4			TCGA-RQ-A68N-01A-11D-A31X-10	TCGA-RQ-A68N-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f0f86783-1a4a-4b9c-a8aa-6b06f57ab5c9	8e299ec1-c619-4564-80cd-223c3c960027	g.chrX:136113230C>T	ENST00000298110.1	-	1	603	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGTGGAATGACGATGAAGGAC	0.567																																					p.V202I		Atlas-SNP	.											.	GPR101	96	.	0			c.G604A						PASS	.						78	66	70					X																	136113230		2203	4300	6503	SO:0001583	missense	83550	exon1			GAATGACGATGAA	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.604G>A	X.37:g.136113230C>T	ENSP00000298110:p.Val202Ile	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	46	38	0.826087	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.499489	0.01001	.	.	ENSG00000165370	ENST00000298110	T	0.73152	-0.72	5.13	-1.89	0.07689	GPCR, rhodopsin-like superfamily (1);	0.589703	0.12687	N	0.447441	T	0.51907	0.1702	N	0.26042	0.785	0.19300	N	0.99997	B	0.11235	0.004	B	0.06405	0.002	T	0.37686	-0.9695	10	0.54805	T	0.06	-6.8495	6.9808	0.24702	0.0:0.3125:0.1519:0.5356	.	202	Q96P66	GP101_HUMAN	I	202	ENSP00000298110:V202I	ENSP00000298110:V202I	V	-	1	0	GPR101	135940896	0.594000	0.26849	0.042000	0.18584	0.676000	0.39594	-0.176000	0.09811	-0.530000	0.06349	-0.208000	0.12717	GTC	.	.	none		0.567	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			T	136113230	C	T	136113230	3	4	38	1	0	0	0	0	1	0	0	0	6622	536	19	1	925	1	GPR101	23	136113230	Missense_Mutation	SNP	C	TCGA-RQ-A68N-01A-11D-A31X-10	17509549	136113230	19157330	253	24027										
HES3	390992	hgsc.bcm.edu	37	chr1	6305292	6305292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcctgcgctgccccctggtgCccgagagcgccgccggcagc	15	19	0	1	rs61760836	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:6305292C>A	ENST00000377898.3	+	4	351	c.286C>A	c.(286-288)Ccc>Acc	p.P96T		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	96	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCCCCTGGTGCCCGAGAGCGC	0.751													C|||	2794	0.557907	0.3079	0.755	5008	,	,		7447	0.5615		0.6849	False		,,,				2504	0.6217				p.P96T		Atlas-SNP	.											.	HES3	3	.	0			c.C286A						PASS	.	C	THR/PRO	1430,1518		391,648,435	2	3	2		286	2.4	0.2	1	dbSNP_129	2	4911,1731		1926,1059,336	no	missense	HES3	NM_001024598.3	38	2317,1707,771	AA,AC,CC		26.0614,48.5075,33.879	benign	96/187	6305292	6341,3249	1474	3321	4795	SO:0001583	missense	390992	exon4			CTGGTGCCCGAGA		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.286C>A	1.37:g.6305292C>A	ENSP00000367130:p.Pro96Thr	Somatic	2	0	0		WXS	Illumina HiSeq	Phase_I	4	4	1	NM_001024598	Q5TGS0	Missense_Mutation	SNP	ENST00000377898.3	37	CCDS41238.1	1241	0.5682234432234432	158	0.32113821138211385	254	0.7016574585635359	313	0.5472027972027972	516	0.6807387862796834	C	2.270	-0.367136	0.05069	0.485075	0.739386	ENSG00000173673	ENST00000377898	T	0.29397	1.57	3.31	2.4	0.29515	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.22003	0.063	B	0.17098	0.017	T	0.30765	-0.9967	8	0.11794	T	0.64	-26.1056	6.4315	0.21798	0.0:0.8639:0.0:0.1361	rs61760836	96	Q5TGS1	HES3_HUMAN	T	96	ENSP00000367130:P96T	ENSP00000367130:P96T	P	+	1	0	HES3	6227879	0.724000	0.28038	0.207000	0.23584	0.040000	0.13550	1.220000	0.32491	0.982000	0.38575	0.289000	0.19496	CCC	C|0.430;A|0.570	0.570	strong		0.751	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305292	C	A	6305292	3	1	39	1	0	0	0	0	1	0	0	0	7067	739	26	4	296	4	HES3	1	6305292	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		6305292	242945329	1	24028										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907708	12907708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtgtttcctgatagacgttgAcgtttcgagggcactacagc	12	9	0	3	rs4026149	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:12907708A>G	ENST00000317869.6	-	2	660	c.435T>C	c.(433-435)cgT>cgC	p.R145R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAGACGTTGACGTTTCGAGG	0.483																																					p.R145R		Atlas-SNP	.											HNRNPCL1,NS,carcinoma,-1,1	HNRNPCL1	68	1	0			c.T435C						scavenged	.						120	124	122					1																	12907708		2201	4297	6498	SO:0001819	synonymous_variant	343069	exon2			ACGTTGACGTTTC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.435T>C	1.37:g.12907708A>G		Somatic	204	15	0.0735294		WXS	Illumina HiSeq	Phase_I	199	26	0.130653	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			A|0.667;G|0.333	0.333	strong		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		G	12907708	A	G	12907708	2	3	39	1	0	0	0	0	0	0	0	1	7263	262	10	2		2	HNRNPCL1	1	12907708	Silent	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	6602416	12907708	236342913	2	24029										
UBXN11	91544	hgsc.bcm.edu	37	chr1	26608885	26608885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	accgggactggggccgggacCgggaccgggacagggaccag	20	12	0	0	rs201454352	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:26608885C>T	ENST00000374222.1	-	16	1932	c.1468G>A	c.(1468-1470)Ggt>Agt	p.G490S	UBXN11_ENST00000374217.2_Missense_Mutation_p.G457S|UBXN11_ENST00000374223.1_Missense_Mutation_p.G247S|UBXN11_ENST00000374221.3_Missense_Mutation_p.G490S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G457S|UBXN11_ENST00000314675.7_Missense_Mutation_p.G370S			Q5T124	UBX11_HUMAN	UBX domain protein 11	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggccgggaccgggaccggga	0.711																																					p.G490S		Atlas-SNP	.											UBXN11,NS,carcinoma,0,2	UBXN11	54	2	1	Deletion - In frame(1)	ovary(1)	c.G1468A						scavenged	.						40	50	47					1																	26608885		1828	4053	5881	SO:0001583	missense	91544	exon16			CGGGACCGGGACC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1468G>A	1.37:g.26608885C>T	ENSP00000363339:p.Gly490Ser	Somatic	32	3	0.09375		WXS	Illumina HiSeq	Phase_I	39	8	0.205128	NM_183008	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	-	2.886	-0.230636	0.05983	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.22945	1.93;2.02;2.37;2.3;2.3;2.37	2.5	-2.32	0.06745	.	2.616560	0.01918	N	0.040283	T	0.06096	0.0158	N	0.00926	-1.1	0.09310	N	0.999997	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28004	-1.0057	10	0.02654	T	1	.	0.4862	0.00556	0.1926:0.2649:0.1644:0.378	.	457;452;370;490	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	370;247;457;490;490;457	ENSP00000324721:G370S;ENSP00000363340:G247S;ENSP00000349601:G457S;ENSP00000363338:G490S;ENSP00000363339:G490S;ENSP00000363334:G457S	ENSP00000324721:G370S	G	-	1	0	UBXN11	26481472	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-1.097000	0.03349	-0.363000	0.08101	0.472000	0.43445	GGT	A|0.009;C|0.939;T|0.052	0.052	strong		0.711	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		T	26608885	C	T	26608885	3	4	39	1	0	0	0	0	1	0	0	0	16910	652	23	1	98	1	UBXN11	1	26608885	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	13701177	26608885	222641736	3	24030										
MARCKSL1	65108	hgsc.bcm.edu	37	chr1	32800454	32800454	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cagaagaatcacccccacccTccttccgatttctcttgaag	5	16	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:32800454T>A	ENST00000329421.7	-	2	677	c.332A>T	c.(331-333)gAg>gTg	p.E111V		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	111					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCCCACCCTCCTTCCGATT	0.572																																					p.E111V		Atlas-SNP	.											.	MARCKSL1	17	.	0			c.A332T						PASS	.						45	45	45					1																	32800454		2203	4300	6503	SO:0001583	missense	65108	exon2			CCACCCTCCTTCC	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"MARCKS-like protein"	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.332A>T	1.37:g.32800454T>A	ENSP00000362638:p.Glu111Val	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	48	13	0.270833	NM_023009	D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	CCDS361.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858221	0.71834	.	.	ENSG00000175130	ENST00000329421	T	0.47528	0.84	5.17	4.04	0.47022	.	0.310671	0.35805	N	0.002978	T	0.52041	0.1710	L	0.52011	1.625	0.41063	D	0.985396	D	0.53462	0.96	P	0.52386	0.697	T	0.55250	-0.8170	10	0.87932	D	0	-5.9678	11.0117	0.47667	0.0:0.0745:0.0:0.9254	.	111	P49006	MRP_HUMAN	V	111	ENSP00000362638:E111V	ENSP00000362638:E111V	E	-	2	0	MARCKSL1	32573041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.764000	0.55264	0.923000	0.37045	0.459000	0.35465	GAG	.	.	none		0.572	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		A	32800454	T	A	32800454	3	1	39	1	0	0	0	0	1	0	0	0	9310	1551	54	5	259	5	MARCKSL1	1	32800454	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	6191569	32800454	216450167	4	24031										
ZSCAN20	7579	hgsc.bcm.edu	37	chr1	33956948	33956948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atcgggccattgcagagcagCtaagggcaaggggcttcctg	15	10	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:33956948C>T	ENST00000361328.3	+	6	1243	c.1090C>T	c.(1090-1092)Cta>Tta	p.L364L	ZSCAN20_ENST00000373413.2_Silent_p.L310L	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	364					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCAGAGCAGCTAAGGGCAAG	0.532																																					p.L364L		Atlas-SNP	.											.	ZSCAN20	107	.	0			c.C1090T						PASS	.						94	98	97					1																	33956948		1957	4167	6124	SO:0001819	synonymous_variant	7579	exon6			GAGCAGCTAAGGG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1090C>T	1.37:g.33956948C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	107	42	0.392523	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	CCDS41300.1																																																																																			.	.	none		0.532	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		T	33956948	C	T	33956948	2	4	39	1	0	0	0	0	0	0	0	1	18229	796	28	2		2	ZSCAN20	1	33956948	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	1156494	33956948	215293673	5	24032										
KCNQ4	9132	hgsc.bcm.edu	37	chr1	41296932	41296932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gagcttcaatgaccgcacccGcttccgggcatctctgagac	10	15	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:41296932G>A	ENST00000347132.5	+	10	1551	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R436H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	490					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GACCGCACCCGCTTCCGGGCA	0.667																																					p.R490H		Atlas-SNP	.											KCNQ4,NS,carcinoma,+1,1	KCNQ4	58	1	0			c.G1469A						scavenged	.						39	34	36					1																	41296932		2203	4298	6501	SO:0001583	missense	9132	exon10			GCACCCGCTTCCG	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1469G>A	1.37:g.41296932G>A	ENSP00000262916:p.Arg490His	Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	228	3	0.0131579	NM_004700	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658340	0.88154	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99745	-6.61;-6.61	5.13	4.19	0.49359	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	M	0.73962	2.25	0.50171	D	0.999856	D;B	0.89917	1.0;0.159	D;B	0.67900	0.954;0.039	D	0.98243	1.0489	10	0.54805	T	0.06	-25.8458	12.8442	0.57821	0.0:0.0:0.8355:0.1645	.	436;490	P56696-2;P56696	.;KCNQ4_HUMAN	H	490;436	ENSP00000262916:R490H;ENSP00000423756:R436H	ENSP00000262916:R490H	R	+	2	0	KCNQ4	41069519	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.619000	0.98369	1.246000	0.43901	0.543000	0.68304	CGC	.	.	none		0.667	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		A	41296932	G	A	41296932	3	1	39	1	0	0	0	0	1	0	0	0	8085	1087	38	1	1507	1	KCNQ4	1	41296932	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	7339984	41296932	207953689	6	24033										
ZYG11B	79699	hgsc.bcm.edu	37	chr1	53287248	53287248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcttagaaaaacacattgtgCgccatgggaggccacctccc	10	13	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:53287248C>T	ENST00000294353.6	+	14	2327	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658C	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	728										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACACATTGTGCGCCATGGGAG	0.418																																					p.R728C		Atlas-SNP	.											ZYG11B,NS,carcinoma,-1,1	ZYG11B	61	1	0			c.C2182T						scavenged	.						88	81	83					1																	53287248		2203	4300	6503	SO:0001583	missense	79699	exon14			ATTGTGCGCCATG	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2182C>T	1.37:g.53287248C>T	ENSP00000294353:p.Arg728Cys	Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	210	6	0.0285714	NM_024646	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576884	0.86645	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T	0.48522	0.81	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.51422	1.61	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.66847	0.947;0.736	T	0.62905	-0.6755	10	0.66056	D	0.02	.	14.2158	0.65792	0.1493:0.8507:0.0:0.0	.	658;728	B4DK95;Q9C0D3	.;ZY11B_HUMAN	C	658;728	ENSP00000294353:R728C	ENSP00000294353:R728C	R	+	1	0	ZYG11B	53059836	0.993000	0.37304	0.996000	0.52242	0.997000	0.91878	2.987000	0.49378	2.567000	0.86603	0.591000	0.81541	CGC	.	.	none		0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		T	53287248	C	T	53287248	3	4	39	1	0	0	0	0	1	0	0	0	18250	768	27	1	2236	1	ZYG11B	1	53287248	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	11990316	53287248	195963373	7	24034										
IGSF3	3321	hgsc.bcm.edu	37	chr1	117150572	117150572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctctctacttactgagggggAggactatgatggggatgttc	14	7	1	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:117150572A>G	ENST00000369486.3	-	5	1979	c.1214T>C	c.(1213-1215)cTc>cCc	p.L405P	IGSF3_ENST00000369483.1_Missense_Mutation_p.L405P|IGSF3_ENST00000318837.6_Missense_Mutation_p.L405P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	405	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTGAGGGGGAGGACTATGAT	0.517																																					p.L405P		Atlas-SNP	.											IGSF3_ENST00000369483,NS,carcinoma,+1,2	IGSF3	294	2	0			c.T1214C						scavenged	.						96	106	103					1																	117150572		2203	4300	6503	SO:0001583	missense	3321	exon5			AGGGGGAGGACTA	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1214T>C	1.37:g.117150572A>G	ENSP00000358498:p.Leu405Pro	Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	247	3	0.0121457	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184701	0.57909	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03065	4.08;4.06;4.06	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075884	0.56097	D	0.000026	T	0.04998	0.0134	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.993	D;D;P	0.68621	0.929;0.959;0.851	T	0.51474	-0.8701	10	0.39692	T	0.17	-41.7205	12.3628	0.55213	1.0:0.0:0.0:0.0	.	405;405;405	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	P	405	ENSP00000358498:L405P;ENSP00000358495:L405P;ENSP00000321184:L405P	ENSP00000321184:L405P	L	-	2	0	IGSF3	116952095	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.645000	0.61404	2.078000	0.62432	0.455000	0.32223	CTC	.	.	none		0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117150572	A	G	117150572	3	3	39	1	0	0	0	0	1	0	0	0	7601	304	11	3	2462	3	IGSF3	1	117150572	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	63863324	117150572	132100049	8	24035										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299805	145299805	+	Missense_Mutation	SNP	A	A	C													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tttgtccagcgagaaggcagAgatgaacattctagaaatca					rs61814629	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491				p.E285A		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	skin(2)	c.A854C						scavenged	.						9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406	exon6			AGGCAGAGATGAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala	Somatic	70	2	0.0285714		WXS	Illumina HiSeq	Phase_I	80	3	0.0375	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG	A|0.999;G|0.001	.	weak		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	39	1	0	0	0	0	1	0	0	0	10193	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	28149233	145299805	103950816	9	24036	493	2								
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299809	145299809	+	Missense_Mutation	SNP	G	G	A													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tccagcgagaaggcagagatGaacattctagaaatcaatga					rs61814630	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:145299809G>A	ENST00000369338.1	+	2	235	c.45G>A	c.(43-45)atG>atA	p.M15I	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.M286I|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	286						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.M15I(1)|p.M286I(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGCAGAGATGAACATTCTAG	0.502													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		41767	0.0635		0.0487	False		,,,				2504	0.0491				p.M286I		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,3	NBPF10	221	3	2	Substitution - Missense(2)	skin(2)	c.G858A						scavenged	.																																			SO:0001583	missense	100132406	exon6			AGAGATGAACATT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.45G>A	1.37:g.145299809G>A	ENSP00000358344:p.Met15Ile	Somatic	69	3	0.0434783		WXS	Illumina HiSeq	Phase_I	78	3	0.0384615	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	10.66	1.411877	0.25465	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.02863	4.13;4.13	1.05	-0.082	0.13700	.	.	.	.	.	T	0.01092	0.0036	L	0.49350	1.555	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.44544	-0.9321	9	0.56958	D	0.05	.	4.7437	0.13028	0.0:0.404:0.596:0.0	rs61814630	15	Q86T75-2	.	I	211;15;15;286	ENSP00000358344:M15I;ENSP00000345684:M286I	ENSP00000345684:M286I	M	+	3	0	NBPF10	144011166	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-1.452000	0.02385	-0.014000	0.14175	0.281000	0.19383	ATG	.	.	weak		0.502	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		A	145299809	G	A	145299809	3	1	39	1	0	0	0	0	1	0	0	0	10193	1290	45	2	880	2	NBPF10	1	145299809	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	4	145299809	103950812	10	24037	493	2								
NBPF14	25832	hgsc.bcm.edu	37	chr1	148010926	148010926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	aacacgctgttgctccaataTgtaaaaggcacttctgtagg	9	9	1	0	rs369015353		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:148010926T>C	ENST00000369219.1	-	14	1712	c.1696A>G	c.(1696-1698)Ata>Gta	p.I566V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	566	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTCCAATATGTAAAAGGCA	0.463																																					p.I566V		Atlas-SNP	.											NBPF14,NS,lymphoid_neoplasm,+1,1	NBPF14	107	1	0			c.A1696G						scavenged	.						2	1	1					1																	148010926		381	1089	1470	SO:0001583	missense	25832	exon14			CCAATATGTAAAA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1696A>G	1.37:g.148010926T>C	ENSP00000358221:p.Ile566Val	Somatic	420	0	0		WXS	Illumina HiSeq	Phase_I	401	4	0.00997506	NM_015383	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.078	-1.188628	0.01607	.	.	ENSG00000122497	ENST00000369219	T	0.05996	3.36	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46693	-0.9173	7	0.38643	T	0.18	.	.	.	.	.	680;566	Q8IX74;Q5TI25	.;NBPFE_HUMAN	V	566	ENSP00000358221:I566V	ENSP00000358221:I566V	I	-	1	0	NBPF14	146477550	0.966000	0.33281	0.014000	0.15608	0.014000	0.08584	-2.021000	0.01440	-2.094000	0.00854	-2.075000	0.00382	ATA	.	.	none		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148010926	T	C	148010926	3	2	39	1	0	0	0	0	1	0	0	0	10194	1464	51	2	1105	2	NBPF14	1	148010926	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	2711117	148010926	101239695	11	24038										
FCER1G	2207	hgsc.bcm.edu	37	chr1	161187859	161187859	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcctcaccctcctctactgtCgactgaaggtagcgctgggc	10	15	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:161187859C>A	ENST00000289902.1	+	2	158	c.133C>A	c.(133-135)Cga>Aga	p.R45R	FCER1G_ENST00000490414.1_Intron|AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Silent_p.R45R	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	45					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 II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCTCTACTGTCGACTGAAGGT	0.562																																					p.R45R		Atlas-SNP	.											FCER1G,NS,carcinoma,-1,2	FCER1G	11	2	0			c.C133A						PASS	.						145	133	137					1																	161187859		2203	4300	6503	SO:0001819	synonymous_variant	2207	exon2			TACTGTCGACTGA		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.133C>A	1.37:g.161187859C>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	74	24	0.324324	NM_004106	Q5VTW4	Silent	SNP	ENST00000289902.1	37	CCDS1225.1																																																																																			.	.	none		0.562	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		A	161187859	C	A	161187859	2	1	39	1	0	0	0	0	0	0	0	1	5775	876	31	4		4	FCER1G	1	161187859	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	13176933	161187859	88062762	12	24039										
TNN	63923	hgsc.bcm.edu	37	chr1	175049323	175049323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caccccacagggcctgcagcTgctcaagaacacggaggatt	11	14	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:175049323T>C	ENST00000239462.4	+	4	922	c.809T>C	c.(808-810)cTg>cCg	p.L270P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	270	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCTGCAGCTGCTCAAGAAC	0.607																																					p.L270P		Atlas-SNP	.											.	TNN	297	.	0			c.T809C						PASS	.						49	51	50					1																	175049323		2203	4300	6503	SO:0001583	missense	63923	exon4			TGCAGCTGCTCAA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.809T>C	1.37:g.175049323T>C	ENSP00000239462:p.Leu270Pro	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	40	14	0.35	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159759	0.78226	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58940	0.3	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.146450	0.47455	D	0.000233	T	0.76884	0.4050	M	0.81802	2.56	0.80722	D	1	D;B	0.76494	0.999;0.118	D;B	0.73708	0.981;0.118	T	0.80246	-0.1462	10	0.66056	D	0.02	.	15.4264	0.75055	0.0:0.0:0.0:1.0	.	270;270	B3KXB6;Q9UQP3	.;TENN_HUMAN	P	270	ENSP00000239462:L270P	ENSP00000239462:L270P	L	+	2	0	TNN	173315946	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.954000	0.56708	2.119000	0.64992	0.528000	0.53228	CTG	.	.	none		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175049323	T	C	175049323	3	2	39	1	0	0	0	0	1	0	0	0	16320	1580	55	3	819	3	TNN	1	175049323	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	13861464	175049323	74201298	13	24040										
USH2A	7399	hgsc.bcm.edu	37	chr1	216251568	216251568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtccattcacacttgctgatAtgaaagagccttccttttta	6	10	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:216251568A>C	ENST00000307340.3	-	27	5821	c.5435T>G	c.(5434-5436)aTa>aGa	p.I1812R	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1812R|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1812	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTGCTGATATGAAAGAGCC	0.438										HNSCC(13;0.011)																											p.I1812R		Atlas-SNP	.											.	USH2A	1168	.	0			c.T5435G						PASS	.						156	158	158					1																	216251568		2203	4300	6503	SO:0001583	missense	7399	exon27			GCTGATATGAAAG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5435T>G	1.37:g.216251568A>C	ENSP00000305941:p.Ile1812Arg	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	114	39	0.342105	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586819	0.66105	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79141	-1.24;-1.24	5.01	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.468184	0.17640	N	0.167065	D	0.82706	0.5095	M	0.66939	2.045	0.09310	N	1	P	0.47484	0.896	P	0.55455	0.776	T	0.73858	-0.3850	10	0.72032	D	0.01	.	10.3204	0.43762	0.922:0.0:0.078:0.0	.	1812	O75445	USH2A_HUMAN	R	1812	ENSP00000305941:I1812R;ENSP00000355910:I1812R	ENSP00000305941:I1812R	I	-	2	0	USH2A	214318191	0.191000	0.23288	0.001000	0.08648	0.523000	0.34469	4.275000	0.58927	0.772000	0.33382	0.528000	0.53228	ATA	.	.	none		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216251568	A	C	216251568	3	2	39	1	0	0	0	0	1	0	0	0	17033	449	16	5	10357	5	USH2A	1	216251568	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	41202245	216251568	32999053	14	24041										
FMN2	56776	hgsc.bcm.edu	37	chr1	240370997	240370997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tccgccccctcttcccggggCaggcataccccttcctcccc	7	23	1	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr1:240370997C>A	ENST00000319653.9	+	5	3115	c.2885C>A	c.(2884-2886)gCa>gAa	p.A962E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	962	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCGGGGCAGGCATACCC	0.697																																					p.A962E		Atlas-SNP	.											FMN2,NS,carcinoma,-1,2	FMN2	451	2	0			c.C2885A						scavenged	.						20	23	22					1																	240370997		2200	4297	6497	SO:0001583	missense	56776	exon5			CCGGGGCAGGCAT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2885C>A	1.37:g.240370997C>A	ENSP00000318884:p.Ala962Glu	Somatic	93	1	0.0107527		WXS	Illumina HiSeq	Phase_I	96	64	0.666667	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.783	0.709962	0.15239	.	.	ENSG00000155816	ENST00000319653	T	0.56941	0.43	3.8	-3.7	0.04437	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.31295	0.0792	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22173	-1.0224	8	.	.	.	.	0.4251	0.00462	0.2272:0.1627:0.2561:0.3541	.	962	Q9NZ56	FMN2_HUMAN	E	962	ENSP00000318884:A962E	.	A	+	2	0	FMN2	238437620	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-6.269000	0.00073	-0.532000	0.06332	-0.878000	0.02970	GCA	.	.	none		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240370997	C	A	240370997	3	1	39	1	0	0	0	0	1	0	0	0	5950	710	25	4	2903	4	FMN2	1	240370997	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	24119429	240370997	8879624	15	24042										
TMEM177	80775	hgsc.bcm.edu	37	chr2	120438454	120438454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caggtcccctgtggcggaccGcagcatttgtgcagagacac	13	13	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr2:120438454G>A	ENST00000424086.1	+	2	498	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMEM177_ENST00000409951.1_Missense_Mutation_p.A9T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A9T|TMEM177_ENST00000272521.6_Missense_Mutation_p.A9T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	9						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGGCGGACCGCAGCATTTGT	0.577																																					p.A9T		Atlas-SNP	.											.	TMEM177	26	.	0			c.G25A						PASS	.						31	32	32					2																	120438454		2203	4300	6503	SO:0001583	missense	80775	exon2			CGGACCGCAGCAT	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.25G>A	2.37:g.120438454G>A	ENSP00000402661:p.Ala9Thr	Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	98	37	0.377551	NM_030577	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.212	-0.161456	0.06502	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.05	-1.07	0.09968	.	0.587988	0.18617	N	0.135983	T	0.10380	0.0254	L	0.47716	1.5	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.003	T	0.25257	-1.0137	10	0.26408	T	0.33	.	0.9877	0.01450	0.3926:0.1542:0.296:0.1572	.	9;9	B8ZZT5;Q53S58	.;TM177_HUMAN	T	9	ENSP00000385966:A9T;ENSP00000402661:A9T;ENSP00000272521:A9T;ENSP00000405898:A9T;ENSP00000386430:A9T	ENSP00000272521:A9T	A	+	1	0	TMEM177	120154924	0.001000	0.12720	0.000000	0.03702	0.267000	0.26476	-0.011000	0.12721	-0.221000	0.09973	0.549000	0.68633	GCA	.	.	none		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		A	120438454	G	A	120438454	3	1	39	1	0	0	0	0	1	0	0	0	16091	1087	38	1	27	1	TMEM177	2	120438454	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		120438454	122760919	16	24043										
SCN9A	6335	hgsc.bcm.edu	37	chr2	167163537	167163537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agcatatataaagcaggtgtGgcattgaaacggaagattgt	12	4	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr2:167163537G>T	ENST00000409435.1	-	2	305	c.306C>A	c.(304-306)gcC>gcA	p.A102A	SCN9A_ENST00000303354.6_Silent_p.A102A|SCN9A_ENST00000375387.4_Silent_p.A102A|SCN9A_ENST00000409672.1_Silent_p.A102A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	102					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCAGGTGTGGCATTGAAAC	0.318																																					p.A102A		Atlas-SNP	.											SCN9A,colon,carcinoma,-1,1	SCN9A	296	1	0			c.C306A						scavenged	.						83	81	81					2																	167163537		1835	4091	5926	SO:0001819	synonymous_variant	6335	exon3			AGGTGTGGCATTG	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.306C>A	2.37:g.167163537G>T		Somatic	470	0	0		WXS	Illumina HiSeq	Phase_I	436	6	0.0137615	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																			.	.	none		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167163537	G	T	167163537	2	4	39	1	0	0	0	0	0	0	0	1	13925	1335	47	4		4	SCN9A	2	167163537	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	46725083	167163537	76035836	17	24044										
ITGAV	3685	hgsc.bcm.edu	37	chr2	187533626	187533626	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	aactgcacttcagatatggaGatcaaccctttgagaattaa	7	8	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr2:187533626G>A	ENST00000261023.3	+	25	2845	c.2571G>A	c.(2569-2571)gaG>gaA	p.E857E	ITGAV_ENST00000474571.1_3'UTR|ITGAV_ENST00000433736.2_Silent_p.E811E|ITGAV_ENST00000374907.3_Silent_p.E821E|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	857					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)	CAGATATGGAGATCAACCCTT	0.323																																					p.E857E	Melanoma(58;108 1995 6081)	Atlas-SNP	.											.	ITGAV	124	.	0			c.G2571A						PASS	.						116	114	115					2																	187533626		2203	4300	6503	SO:0001819	synonymous_variant	3685	exon25			TATGGAGATCAAC		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.2571G>A	2.37:g.187533626G>A		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	174	60	0.344828	NM_002210	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	8.464	0.856071	0.17106	.	.	ENSG00000138448	ENST00000430709	.	.	.	5.54	3.75	0.43078	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54302	-0.8314	4	.	.	.	.	9.257	0.37590	0.2825:0.0:0.7175:0.0	.	.	.	.	K	8	.	.	R	+	2	0	ITGAV	187241871	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.129000	0.31381	0.716000	0.32124	-0.143000	0.13931	AGA	.	.	none		0.323	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187533626	G	A	187533626	2	1	39	1	0	0	0	0	0	0	0	1	7888	933	33	2		2	ITGAV	2	187533626	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	20370089	187533626	55665747	18	24045										
EFHD1	80303	hgsc.bcm.edu	37	chr2	233546429	233546429	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	aaggccaacttcaatacataGtcctgctgaccttgccctct	6	14	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr2:233546429G>T	ENST00000264059.3	+	4	1197	c.720G>T	c.(718-720)taG>taT	p.*240Y	EFHD1_ENST00000409613.1_Nonstop_Mutation_p.*144Y|EFHD1_ENST00000409708.1_Nonstop_Mutation_p.*128Y|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_Nonstop_Mutation_p.*128Y	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	0					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)		TCAATACATAGTCCTGCTGAC	0.582																																					p.X240Y		Atlas-SNP	.											.	EFHD1	28	.	0			c.G720T						PASS	.						71	61	64					2																	233546429		2203	4300	6503	SO:0001578	stop_lost	80303	exon4			TACATAGTCCTGC		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.720G>T	2.37:g.233546429G>T	ENSP00000264059:p.*240Tyrext*3	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	45	13	0.288889	NM_025202	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899836	0.72754	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	.	.	.	5.59	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0595	0.25117	0.0907:0.1752:0.7341:0.0	.	.	.	.	Y	144;240;143;128;128	.	.	X	+	3	2	EFHD1	233254673	0.965000	0.33210	0.119000	0.21687	0.759000	0.43091	2.287000	0.43505	1.345000	0.45676	0.591000	0.81541	TAG	.	.	none		0.582	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		T	233546429	G	T	233546429	4	4	39	1	0	0	0	0	0	0	0	0	4948	1024	36	4	734	4	EFHD1	2	233546429	Nonstop_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	46012803	233546429	9652944	19	24046										
MYD88	4615	hgsc.bcm.edu	37	chr3	38181908	38181908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctgagcgtttcgatgccttcAtctgctattgccccagcgac	9	14	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:38181908A>G	ENST00000396334.3	+	3	716	c.532A>G	c.(532-534)Atc>Gtc	p.I178V	MYD88_ENST00000443433.2_Intron|MYD88_ENST00000417037.2_Missense_Mutation_p.I178V|MYD88_ENST00000424893.1_Missense_Mutation_p.I133V|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_Intron	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	165	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGATGCCTTCATCTGCTATTG	0.552			Mis		ABC-DLBCL																																p.I178V		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	.	MYD88	900	.	0			c.A532G						PASS	.						118	91	100					3																	38181908		2203	4300	6503	SO:0001583	missense	4615	exon3			GCCTTCATCTGCT	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.532A>G	3.37:g.38181908A>G	ENSP00000379625:p.Ile178Val	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	40	27	0.675	NM_002468	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805447	0.50315	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.61	5.61	0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.43701	1.375	0.80722	D	1	B;B;B	0.22909	0.077;0.031;0.031	B;B;B	0.29077	0.086;0.098;0.098	T	0.05550	-1.0878	10	0.14252	T	0.57	.	15.3005	0.73945	1.0:0.0:0.0:0.0	.	120;165;154	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	V	178;178;133;177;154	ENSP00000401399:I178V;ENSP00000379625:I178V;ENSP00000389979:I133V;ENSP00000391753:I177V	ENSP00000379625:I178V	I	+	1	0	MYD88	38156912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.964000	0.76061	2.281000	0.76405	0.533000	0.62120	ATC	.	.	none		0.552	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		G	38181908	A	G	38181908	3	3	39	1	0	0	0	0	1	0	0	0	10023	217	8	2	542	2	MYD88	3	38181908	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10		38181908	159840522	20	24047										
XIRP1	165904	hgsc.bcm.edu	37	chr3	39230658	39230658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttctcaaagatccagcgcatGcactgaacgtcaccctcggt	8	14	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:39230658G>A	ENST00000340369.3	-	2	507	c.279C>T	c.(277-279)tgC>tgT	p.C93C	XIRP1_ENST00000396251.1_Silent_p.C93C|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	93					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCAGCGCATGCACTGAACGT	0.607																																					p.C93C		Atlas-SNP	.											.	XIRP1	173	.	0			c.C279T						PASS	.						72	70	71					3																	39230658		2203	4300	6503	SO:0001819	synonymous_variant	165904	exon2			GCGCATGCACTGA	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.279C>T	3.37:g.39230658G>A		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	63	6	0.0952381	NM_001198621	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																			.	.	none		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39230658	G	A	39230658	2	1	39	1	0	0	0	0	0	0	0	1	17426	1311	46	2		2	XIRP1	3	39230658	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	1048750	39230658	158791772	21	24048										
VPRBP	9730	hgsc.bcm.edu	37	chr3	51497147	51497147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	taccttttcttgaaagacgaCagcagtttccagccctggca	8	12	1	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:51497147C>T	ENST00000335891.5	-	4	367	c.358G>A	c.(358-360)Gtc>Atc	p.V120I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	120					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGAAAGACGACAGCAGTTTCC	0.373																																					p.V120I		Atlas-SNP	.											VPRBP,colon,carcinoma,+1,1	VPRBP	107	1	0			c.G358A						scavenged	.						56	52	53					3																	51497147		1903	4142	6045	SO:0001583	missense	9730	exon6			AGACGACAGCAGT	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.358G>A	3.37:g.51497147C>T	ENSP00000338857:p.Val120Ile	Somatic	83	1	0.0120482		WXS	Illumina HiSeq	Phase_I	100	38	0.38	NM_014703	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825197	0.90955	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.57595	0.39;0.81	5.51	5.51	0.81932	Armadillo-type fold (1);	0.057232	0.64402	D	0.000002	T	0.54711	0.1875	M	0.65975	2.015	0.30565	N	0.764119	P	0.41784	0.762	B	0.38327	0.271	T	0.63506	-0.6622	10	0.51188	T	0.08	-11.4123	19.0105	0.92871	0.0:1.0:0.0:0.0	.	120	Q9Y4B6	VPRBP_HUMAN	I	120	ENSP00000338857:V120I;ENSP00000421724:V120I	ENSP00000338857:V120I	V	-	1	0	VPRBP	51472187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.332000	0.79203	2.589000	0.87451	0.561000	0.74099	GTC	.	.	none		0.373	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		T	51497147	C	T	51497147	3	4	39	1	0	0	0	0	1	0	0	0	17182	478	17	2	4082	2	VPRBP	3	51497147	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	12266489	51497147	146525283	22	24049										
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113380105	113380105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	aataatttttttttgaacctGgtcactaggaataacaacag	6	6	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:113380105G>T	ENST00000478658.1	-	5	441	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q142K|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	142						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTTGAACCTGGTCACTAGGA	0.368																																					p.Q142K		Atlas-SNP	.											KIAA2018,NS,carcinoma,+2,1	KIAA2018	180	1	0			c.C424A						scavenged	.						92	88	89					3																	113380105		1812	4073	5885	SO:0001583	missense	205717	exon7			GAACCTGGTCACT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.424C>A	3.37:g.113380105G>T	ENSP00000420721:p.Gln142Lys	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	189	2	0.010582	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154726	0.57259	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15718	2.4;2.4	5.81	5.81	0.92471	.	0.142736	0.47455	D	0.000226	T	0.17195	0.0413	L	0.29908	0.895	0.43559	D	0.995871	B	0.22346	0.068	B	0.15870	0.014	T	0.02917	-1.1094	10	0.87932	D	0	-1.3537	20.0628	0.97684	0.0:0.0:1.0:0.0	.	142	Q68DE3	K2018_HUMAN	K	142	ENSP00000320794:Q142K;ENSP00000420721:Q142K	ENSP00000320794:Q142K	Q	-	1	0	KIAA2018	114862795	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.888000	0.69758	2.745000	0.94114	0.655000	0.94253	CAG	.	.	none		0.368	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113380105	G	T	113380105	3	4	39	1	0	0	0	0	1	0	0	0	8268	1357	47	4	6317	4	KIAA2018	3	113380105	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	61882958	113380105	84642325	23	24050										
KALRN	8997	hgsc.bcm.edu	37	chr3	124175525	124175525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cgggaggtcaagctgcgggaCgccaaccacgaagtcaatga	14	11	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:124175525C>T	ENST00000240874.3	+	23	3955	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	KALRN_ENST00000460856.1_Silent_p.D1257D|KALRN_ENST00000360013.3_Silent_p.D1266D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1266					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCGGGACGCCAACCACG	0.557																																					p.D1266D		Atlas-SNP	.											.	KALRN	556	.	0			c.C3798T						PASS	.						105	100	102					3																	124175525		2203	4300	6503	SO:0001819	synonymous_variant	8997	exon23			GCGGGACGCCAAC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3798C>T	3.37:g.124175525C>T		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	174	51	0.293103	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176432	0.21704	.	.	ENSG00000160145	ENST00000354186	.	.	.	4.88	-9.12	0.00707	.	.	.	.	.	T	0.59972	0.2233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68401	-0.5418	4	.	.	.	.	15.3034	0.73972	0.0:0.5754:0.0:0.4246	.	.	.	.	M	1235	.	.	T	+	2	0	KALRN	125658215	0.014000	0.17966	0.808000	0.32385	0.960000	0.62799	-0.945000	0.03909	-1.767000	0.01300	-0.966000	0.02617	ACG	.	.	none		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124175525	C	T	124175525	2	4	39	1	0	0	0	0	0	0	0	1	7975	535	19	1		1	KALRN	3	124175525	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	10795420	124175525	73846905	24	24051										
PAK2	5062	hgsc.bcm.edu	37	chr3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttcataattctgaatcatgtCtgataacggagaactggaag	9	6	4	3	rs67093638		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																					p.S2C		Atlas-SNP	.											PAK2_ENST00000327134,NS,carcinoma,0,4	PAK2	113	4	2	Substitution - Missense(2)	prostate(2)	c.C5G						scavenged	.						81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062	exon2			TCATGTCTGATAA	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys	Somatic	220	1	0.00454545		WXS	Illumina HiSeq	Phase_I	220	5	0.0227273	NM_002577	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT	C|0.986;G|0.014	0.014	strong		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	39	1	0	0	0	0	1	0	0	0	11401	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	72333997	196509522	1512908	25	24052										
PAK2	5062	hgsc.bcm.edu	37	chr3	196530022	196530022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtgaagcagaaatatctgagCtttactcctcctggtaagag	10	8	1	4	rs115224945	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																					p.S141S		Atlas-SNP	.											PAK2_ENST00000327134,rectum,carcinoma,0,2	PAK2	113	2	0			c.C423T						scavenged	.						85	79	81					3																	196530022		2203	4300	6503	SO:0001819	synonymous_variant	5062	exon4			TCTGAGCTTTACT	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T		Somatic	44	2	0.0454545		WXS	Illumina HiSeq	Phase_I	66	9	0.136364	NM_002577	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																			C|0.986;T|0.015	0.015	strong		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196530022	C	T	196530022	2	4	39	1	0	0	0	0	0	0	0	1	11401	796	28	2		2	PAK2	3	196530022	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	20500	196530022	1492408	26	24053										
ATOH1	474	hgsc.bcm.edu	37	chr4	94751127	94751127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cattcccattacagtgactcGgatgaggcaagttaggaagg	12	8	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr4:94751127G>A	ENST00000306011.3	+	1	1086	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	350					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		ACAGTGACTCGGATGAGGCAA	0.547																																					p.S350S		Atlas-SNP	.											.	ATOH1	40	.	0			c.G1050A						PASS	.						53	57	56					4																	94751127		2203	4294	6497	SO:0001819	synonymous_variant	474	exon1			TGACTCGGATGAG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.1050G>A	4.37:g.94751127G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	83	23	0.277108	NM_005172	Q14CT9	Silent	SNP	ENST00000306011.3	37	CCDS3638.1																																																																																			.	.	none		0.547	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		A	94751127	G	A	94751127	2	1	39	1	0	0	0	0	0	0	0	1	1112	1103	39	1		1	ATOH1	4	94751127	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		94751127	96403149	27	24054										
PDHA2	5161	hgsc.bcm.edu	37	chr4	96761963	96761963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	accttgtgttttcatctgtgAgaataacctatatggaatgg	9	6	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr4:96761963A>G	ENST00000295266.4	+	1	725	c.662A>G	c.(661-663)gAg>gGg	p.E221G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	221					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTCATCTGTGAGAATAACCTA	0.453																																					p.E221G		Atlas-SNP	.											.	PDHA2	118	.	0			c.A662G						PASS	.						80	83	82					4																	96761963		2203	4300	6503	SO:0001583	missense	5161	exon1			TCTGTGAGAATAA		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.662A>G	4.37:g.96761963A>G	ENSP00000295266:p.Glu221Gly	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	47	19	0.404255	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145730	0.77888	.	.	ENSG00000163114	ENST00000295266	D	0.96522	-4.04	4.7	4.7	0.59300	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98794	1.0737	10	0.87932	D	0	-26.8347	12.4398	0.55619	1.0:0.0:0.0:0.0	.	221	P29803	ODPAT_HUMAN	G	221	ENSP00000295266:E221G	ENSP00000295266:E221G	E	+	2	0	PDHA2	96980986	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.369000	0.90118	2.103000	0.63969	0.383000	0.25322	GAG	.	.	none		0.453	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			G	96761963	A	G	96761963	3	3	39	1	0	0	0	0	1	0	0	0	11665	304	11	3	664	3	PDHA2	4	96761963	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	2010836	96761963	94392313	28	24055										
CISD2	493856	hgsc.bcm.edu	37	chr4	103806567	103806567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttactaaagcagcttattgtAggtgttggcgttctaaaacg	10	6	1	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr4:103806567A>T	ENST00000273986.4	+	2	405	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	CISD2_ENST00000503643.1_Missense_Mutation_p.R110W|SLC9B1_ENST00000394789.3_Intron	NM_001008388.4	NP_001008389.1	Q8N5K1	CISD2_HUMAN	CDGSH iron sulfur domain 2	100					mitochondrion degradation (GO:0000422)|multicellular organismal aging (GO:0010259)|regulation of autophagy (GO:0010506)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		AGCTTATTGTAGGTGTTGGCG	0.343																																					p.R100W		Atlas-SNP	.											.	CISD2	9	.	0			c.A298T						PASS	.						53	51	52					4																	103806567		2203	4300	6503	SO:0001583	missense	493856	exon2			TATTGTAGGTGTT	BX537971	CCDS34040.1	4q24	2009-03-25	2007-08-10	2007-08-10	ENSG00000145354	ENSG00000145354		"CDGSH iron sulfur domain containing"	24212	protein-coding gene	gene with protein product	"mitoNEET related 1", "endoplasmic reticulum intermembrane small protein"	611507	"zinc finger, CDGSH-type domain 2", "Wolfram syndrome 2"	ZCD2, WFS2		17376863, 17584744, 17846994	Standard	NM_001008388		Approved	Miner1, ERIS	uc003hwt.4	Q8N5K1	OTTHUMG00000161014	ENST00000273986.4:c.298A>T	4.37:g.103806567A>T	ENSP00000273986:p.Arg100Trp	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	97	34	0.350515	NM_001008388	Q7Z3D5	Missense_Mutation	SNP	ENST00000273986.4	37	CCDS34040.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460468	0.84317	.	.	ENSG00000145354	ENST00000273986;ENST00000503643	.	.	.	6.17	2.16	0.27623	Iron sulphur-containing domain, CDGSH-type, subfamily (1);Iron sulphur-containing domain, CDGSH-type (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85812	0.1380	9	0.87932	D	0	-30.1136	14.2849	0.66240	0.4988:0.5012:0.0:0.0	.	100	Q8N5K1	CISD2_HUMAN	W	100;110	.	ENSP00000273986:R100W	R	+	1	2	CISD2	104026002	0.999000	0.42202	0.964000	0.40570	0.979000	0.70002	1.460000	0.35244	0.142000	0.18901	0.533000	0.62120	AGG	.	.	none		0.343	CISD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363417.2	NM_001008388		T	103806567	A	T	103806567	3	4	39	1	0	0	0	0	1	0	0	0	3436	411	15	5	304	5	CISD2	4	103806567	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	7044604	103806567	87347709	29	24056										
MARCH1	55016	hgsc.bcm.edu	37	chr4	164466777	164466777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgccttgcttgatttcctccGctgtccggtctatcaataca	7	13	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr4:164466777G>A	ENST00000503008.1	-	7	1518	c.542C>T	c.(541-543)gCg>gTg	p.A181V	MARCH1_ENST00000274056.7_Missense_Mutation_p.A181V|MARCH1_ENST00000339875.5_Missense_Mutation_p.A164V|MARCH1_ENST00000514618.1_Missense_Mutation_p.A437V	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	181					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A164E(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATTTCCTCCGCTGTCCGGTC	0.433																																					p.A181V		Atlas-SNP	.											MARCH1,NS,carcinoma,0,1	MARCH1	83	1	1	Substitution - Missense(1)	lung(1)	c.C542T						scavenged	.						233	178	196					4																	164466777		2203	4300	6503	SO:0001583	missense	55016	exon7			TCCTCCGCTGTCC	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.542C>T	4.37:g.164466777G>A	ENSP00000427223:p.Ala181Val	Somatic	119	1	0.00840336		WXS	Illumina HiSeq	Phase_I	163	2	0.0122699	NM_001166373	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681862	0.68042	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.36340	1.68;1.68;1.26;1.3	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.38214	0.1032	L	0.60455	1.87	0.80722	D	1	P;P	0.49635	0.85;0.926	B;B	0.42282	0.142;0.382	T	0.21211	-1.0252	10	0.22706	T	0.39	.	18.346	0.90322	0.0:0.0:1.0:0.0	.	181;164	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	V	181;181;437;164	ENSP00000274056:A181V;ENSP00000427223:A181V;ENSP00000421322:A437V;ENSP00000345676:A164V	ENSP00000274056:A181V	A	-	2	0	MARCH1	164686227	1.000000	0.71417	0.210000	0.23637	0.634000	0.38068	9.476000	0.97823	2.331000	0.79229	0.655000	0.94253	GCG	.	.	none		0.433	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		A	164466777	G	A	164466777	3	1	39	1	0	0	0	0	1	0	0	0	9298	1087	38	1	335	1	MARCH1	4	164466777	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	60660210	164466777	26687499	30	24057										
HELT	391723	hgsc.bcm.edu	37	chr4	185941741	185941741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctttcccctggccgcctggcGcggcccgcagccccgcgctg	13	21	0	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr4:185941741G>A	ENST00000515777.1	+	4	632	c.544G>A	c.(544-546)Gcg>Acg	p.A182T	HELT_ENST00000338875.4_Missense_Mutation_p.A267T|HELT_ENST00000505610.1_Missense_Mutation_p.A181T			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	182	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCCGCCTGGCGCGGCCCGCAG	0.756																																					p.A267T		Atlas-SNP	.											.	HELT	34	.	0			c.G799A						PASS	.						7	9	8					4																	185941741		2021	4009	6030	SO:0001583	missense	391723	exon4			CCTGGCGCGGCCC	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.544G>A	4.37:g.185941741G>A	ENSP00000426033:p.Ala182Thr	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	21	11	0.52381	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37		.	.	.	.	.	.	.	.	.	.	G	5.378	0.255065	0.10185	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.64260	-0.08;-0.09;1.92	4.96	1.05	0.20165	.	0.293161	0.33916	N	0.004423	T	0.31796	0.0808	N	0.12182	0.205	0.28373	N	0.919909	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06588	-1.0818	10	0.13853	T	0.58	.	1.5726	0.02618	0.3402:0.3161:0.2239:0.1198	.	267;182;181	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	T	181;182;267	ENSP00000422140:A181T;ENSP00000426033:A182T;ENSP00000343464:A267T	ENSP00000343464:A267T	A	+	1	0	HELT	186178735	0.996000	0.38824	0.101000	0.21167	0.038000	0.13279	0.539000	0.23175	0.138000	0.18790	0.561000	0.74099	GCG	.	.	none		0.756	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		A	185941741	G	A	185941741	3	1	39	1	0	0	0	0	1	0	0	0	7048	1087	38	1	813	1	HELT	4	185941741	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	21474964	185941741	5212535	31	24058										
C5orf42	65250	hgsc.bcm.edu	37	chr5	37224369	37224369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcttacctttctcttcgattTcttgtagagcttttttccac	4	11	3	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr5:37224369T>C	ENST00000508244.1	-	13	2660	c.2567A>G	c.(2566-2568)gAa>gGa	p.E856G	C5orf42_ENST00000425232.2_Missense_Mutation_p.E856G|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	856						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTTCGATTTCTTGTAGAGC	0.328																																					p.E856G		Atlas-SNP	.											.	C5orf42	422	.	0			c.A2567G						PASS	.						266	193	215					5																	37224369		692	1588	2280	SO:0001583	missense	65250	exon14			TCGATTTCTTGTA		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2567A>G	5.37:g.37224369T>C	ENSP00000421690:p.Glu856Gly	Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	123	39	0.317073	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603999	0.66445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.27402	1.67;1.67	5.38	5.38	0.77491	.	0.192036	0.31821	U	0.007004	T	0.55081	0.1898	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58335	-0.7654	10	0.62326	D	0.03	-11.8602	15.3477	0.74355	0.0:0.0:0.0:1.0	.	856	E9PH94	.	G	856	ENSP00000421690:E856G;ENSP00000389014:E856G	ENSP00000389014:E856G	E	-	2	0	C5orf42	37260126	1.000000	0.71417	0.986000	0.45419	0.706000	0.40770	3.584000	0.53936	2.175000	0.68902	0.533000	0.62120	GAA	.	.	none		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37224369	T	C	37224369	3	2	39	1	0	0	0	0	1	0	0	0	2301	1783	62	2	7182	2	C5orf42	5	37224369	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10		37224369	143690891	32	24059										
FAM81B	153643	hgsc.bcm.edu	37	chr5	94764428	94764428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	aaactctttccaagaacttgGacatgaaggtaattgaaaat	7	6	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr5:94764428G>A	ENST00000283357.5	+	6	824	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	260						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAAGAACTTGGACATGAAGGT	0.408																																					p.D260N		Atlas-SNP	.											FAM81B,NS,carcinoma,0,1	FAM81B	51	1	0			c.G778A						scavenged	.						115	106	109					5																	94764428		1844	4088	5932	SO:0001583	missense	153643	exon6			AACTTGGACATGA		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.778G>A	5.37:g.94764428G>A	ENSP00000283357:p.Asp260Asn	Somatic	180	1	0.00555556		WXS	Illumina HiSeq	Phase_I	195	67	0.34359	NM_152548		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860601	0.71834	.	.	ENSG00000153347	ENST00000283357;ENST00000512365	T	0.21361	2.01	5.87	5.87	0.94306	.	0.251835	0.40469	N	0.001099	T	0.47266	0.1436	M	0.69823	2.125	0.36848	D	0.887755	D	0.76494	0.999	D	0.69479	0.964	T	0.46679	-0.9174	10	0.46703	T	0.11	-11.1539	18.9772	0.92742	0.0:0.0:1.0:0.0	.	260	Q96LP2	FA81B_HUMAN	N	260;16	ENSP00000283357:D260N	ENSP00000283357:D260N	D	+	1	0	FAM81B	94790184	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.789000	0.69029	2.780000	0.95670	0.655000	0.94253	GAC	.	.	none		0.408	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94764428	G	A	94764428	3	1	39	1	0	0	0	0	1	0	0	0	5629	1174	41	2	800	2	FAM81B	5	94764428	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	57540059	94764428	86150832	33	24060										
PPP2CA	5515	hgsc.bcm.edu	37	chr5	133561476	133561476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cgcagaggctcttgacctggGactcggacagctgcttgcac	13	13	1	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr5:133561476G>A	ENST00000481195.1	-	1	357	c.77C>T	c.(76-78)tCc>tTc	p.S26F	CTD-2410N18.5_ENST00000519718.1_Missense_Mutation_p.S26F|CTD-2410N18.4_ENST00000518409.1_RNA|PPP2CA_ENST00000231504.5_5'UTR|MIR3661_ENST00000577394.1_RNA|CDKL3_ENST00000609383.1_Intron|CTD-2410N18.3_ENST00000602919.1_lincRNA|CDKL3_ENST00000609654.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	26					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CTTGACCTGGGACTCGGACAG	0.662																																					p.S26F		Atlas-SNP	.											.	PPP2CA	29	.	0			c.C77T						PASS	.						76	68	71					5																	133561476		2203	4300	6503	SO:0001583	missense	5515	exon1			ACCTGGGACTCGG		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.77C>T	5.37:g.133561476G>A	ENSP00000418447:p.Ser26Phe	Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	37	17	0.459459	NM_002715	P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453473	0.63290	.	.	ENSG00000113558;ENSG00000113575	ENST00000519718;ENST00000481195	T;T	0.46819	0.86;0.95	5.1	5.1	0.69264	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.390870	0.24755	N	0.035880	T	0.47967	0.1474	M	0.79011	2.435	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.52704	-0.8540	10	0.72032	D	0.01	-1.9595	8.9806	0.35964	0.0:0.205:0.6547:0.1403	.	26	P67775	PP2AA_HUMAN	F	26	ENSP00000430774:S26F;ENSP00000418447:S26F	ENSP00000418447:S26F	S	-	2	0	PPP2CA;SKP1	133589375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.051000	0.49885	2.653000	0.90120	0.655000	0.94253	TCC	.	.	none		0.662	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		A	133561476	G	A	133561476	3	1	39	1	0	0	0	0	1	0	0	0	12380	1174	41	2	880	2	PPP2CA	5	133561476	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	38797048	133561476	47353784	34	24061										
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140563728	140563728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gggagttcgagttccgcgtgAgcgccacagaccgcggctcc	15	14	0	2	rs2697532	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr5:140563728A>G	ENST00000361016.2	+	1	2749	c.1594A>G	c.(1594-1596)Agc>Ggc	p.S532G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> G (in dbSNP:rs2697532). {ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334}.		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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGAGCGCCACAGA	0.682													G|||	939	0.1875	0.1339	0.1931	5008	,	,		10582	0.1855		0.2863	False		,,,				2504	0.1564				p.S532G		Atlas-SNP	.											PCDHB16,NS,carcinoma,0,1	PCDHB16	159	1	0			c.A1594G						scavenged	.						35	38	37					5																	140563728		1856	3453	5309	SO:0001583	missense	57717	exon1			CGCGTGAGCGCCA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1594A>G	5.37:g.140563728A>G	ENSP00000354293:p.Ser532Gly	Somatic	41	2	0.0487805		WXS	Illumina HiSeq	Phase_I	35	7	0.2	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	N	0.027	-1.361903	0.01235	.	.	ENSG00000196963	ENST00000361016	T	0.01804	4.63	4.26	-1.08	0.09936	Cadherin (5);Cadherin-like (1);	0.236103	0.21995	N	0.066089	T	0.00967	0.0032	N	0.25201	0.72	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.02654	T	1	.	3.6001	0.08021	0.2321:0.5022:0.139:0.1267	rs61743494	532	Q9NRJ7	PCDBG_HUMAN	G	532	ENSP00000354293:S532G	ENSP00000354293:S532G	S	+	1	0	PCDHB16	140543912	0.000000	0.05858	0.984000	0.44739	0.358000	0.29455	-1.167000	0.03126	-0.365000	0.08076	-0.204000	0.12730	AGC	A|0.667;G|0.333	0.333	strong		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140563728	A	G	140563728	3	3	39	1	0	0	0	0	1	0	0	0	11541	304	11	3	1596	3	PCDHB16	5	140563728	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	7002252	140563728	40351532	35	24062										
NSD1	64324	hgsc.bcm.edu	37	chr5	176638303	176638303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cacacacaattcagagaaaaAgggagatggcactcagaact	9	9	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr5:176638303A>G	ENST00000439151.2	+	5	2948	c.2903A>G	c.(2902-2904)aAg>aGg	p.K968R	NSD1_ENST00000361032.4_Missense_Mutation_p.K865R|NSD1_ENST00000354179.4_Missense_Mutation_p.K699R|NSD1_ENST00000347982.4_Missense_Mutation_p.K699R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	968					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGAAAAAGGGAGATGGC	0.517			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.K968R		Atlas-SNP	.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	NSD1_ENST00000439151,colon,carcinoma,0,2	NSD1	416	2	0			c.A2903G						scavenged	.						65	66	66					5																	176638303		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AGAAAAAGGGAGA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2903A>G	5.37:g.176638303A>G	ENSP00000395929:p.Lys968Arg	Somatic	193	0	0		WXS	Illumina HiSeq	Phase_I	242	3	0.0123967	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.316745	0.01331	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93133	-3.07;-3.07;-3.07;-3.17	4.83	-1.98	0.07480	.	0.630400	0.15556	N	0.256168	T	0.78266	0.4256	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19817	0.039;0.039;0.023	B;B;B	0.18871	0.023;0.023;0.006	T	0.68074	-0.5505	9	.	.	.	.	5.4943	0.16793	0.5017:0.1509:0.3473:0.0	.	699;865;968	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	699;968;699;865	ENSP00000346111:K699R;ENSP00000395929:K968R;ENSP00000343209:K699R;ENSP00000354310:K865R	.	K	+	2	0	NSD1	176570909	0.976000	0.34144	0.030000	0.17652	0.107000	0.19398	0.281000	0.18810	-0.407000	0.07576	-0.250000	0.11733	AAG	.	.	none		0.517	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		G	176638303	A	G	176638303	3	3	39	1	0	0	0	0	1	0	0	0	10669	72	3	3	2917	3	NSD1	5	176638303	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	36074575	176638303	4276957	36	24063										
OR10C1	442194	hgsc.bcm.edu	37	chr6	29407999	29407999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cgcaccctctcggccttggaGattggctatacgtctgtcac	10	14	3	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29407999G>C	ENST00000444197.2	+	1	917	c.207G>C	c.(205-207)gaG>gaC	p.E69D	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGCCTTGGAGATTGGCTATA	0.572																																					p.E69D		Atlas-SNP	.											.	OR10C1	58	.	0			c.G207C						PASS	.						176	154	161					6																	29407999		1511	2708	4219	SO:0001583	missense	442194	exon1			CTTGGAGATTGGC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.207G>C	6.37:g.29407999G>C	ENSP00000419119:p.Glu69Asp	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	74	28	0.378378	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	3.194	-0.165267	0.06461	.	.	ENSG00000206474	ENST00000444197	T	0.00008	9.61	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001313	T	0.00012	0.0000	N	0.21240	0.645	0.22975	N	0.998488	B	0.18461	0.028	B	0.24394	0.053	T	0.49835	-0.8897	10	0.15499	T	0.54	.	2.6706	0.05066	0.1058:0.1827:0.5232:0.1884	.	69	Q96KK4	O10C1_HUMAN	D	69	ENSP00000419119:E69D	ENSP00000419119:E69D	E	+	3	2	OR10C1	29515978	0.000000	0.05858	0.633000	0.29310	0.011000	0.07611	-0.801000	0.04550	2.008000	0.58898	0.430000	0.28490	GAG	.	.	none		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			C	29407999	G	C	29407999	3	2	39	1	0	0	0	0	1	0	0	0	10898	933	33	4	209	4	OR10C1	6	29407999	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		29407999	141707068	37	24064										
HLA-G	3135	hgsc.bcm.edu	37	chr6	29797406	29797406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtggtggtgccttctggagaGgagcagagatacacgtgcca	16	8	1	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29797406G>A	ENST00000360323.6	+	4	855	c.831G>A	c.(829-831)gaG>gaA	p.E277E	HLA-G_ENST00000376818.3_Silent_p.E185E|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.E282E|HLA-G_ENST00000428701.1_Silent_p.E277E			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	277	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E277E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTTCTGGAGAGGAGCAGAGAT	0.607																																					p.E277E		Atlas-SNP	.											HLA-G,NS,carcinoma,0,1	HLA-G	90	1	1	Substitution - coding silent(1)	prostate(1)	c.G831A						scavenged	.						62	58	59					6																	29797406		2203	4298	6501	SO:0001819	synonymous_variant	3135	exon5			TGGAGAGGAGCAG		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.831G>A	6.37:g.29797406G>A		Somatic	100	1	0.01		WXS	Illumina HiSeq	Phase_I	130	12	0.0923077	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			.	.	weak		0.607	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		A	29797406	G	A	29797406	2	1	39	1	0	0	0	0	0	0	0	1	7212	991	35	2		2	HLA-G	6	29797406	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	389407	29797406	141317661	38	24065										
HLA-G	3135	hgsc.bcm.edu	37	chr6	29797436	29797436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tacacgtgccatgtgcagcaTgaggggctgccggagcccct	14	13	0	1	rs74547057	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29797436T>C	ENST00000360323.6	+	4	885	c.861T>C	c.(859-861)caT>caC	p.H287H	HLA-G_ENST00000376818.3_Silent_p.H195H|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.H292H|HLA-G_ENST00000428701.1_Silent_p.H287H			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	287	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.H287H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ATGTGCAGCATGAGGGGCTGC	0.577																																					p.H287H		Atlas-SNP	.											HLA-G,NS,carcinoma,0,1	HLA-G	90	1	1	Substitution - coding silent(1)	prostate(1)	c.T861C						scavenged	.						55	57	56					6																	29797436		2203	4300	6503	SO:0001819	synonymous_variant	3135	exon5			GCAGCATGAGGGG		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.861T>C	6.37:g.29797436T>C		Somatic	94	1	0.0106383		WXS	Illumina HiSeq	Phase_I	140	12	0.0857143	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																			T|0.985;C|0.015	0.015	strong		0.577	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		C	29797436	T	C	29797436	2	2	39	1	0	0	0	0	0	0	0	1	7212	1461	51	2		2	HLA-G	6	29797436	Silent	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	30	29797436	141317631	39	24066										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910557	29910557	+	Missense_Mutation	SNP	T	T	C													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cccactccatgaggtatttcTtcacatccgtgtcccggccc					rs386698549|rs1136659	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29910557T>C	ENST00000396634.1	+	4	438	c.97T>C	c.(97-99)Ttc>Ctc	p.F33L	HLA-A_ENST00000376809.5_Missense_Mutation_p.F33L|HLA-A_ENST00000376802.2_Missense_Mutation_p.F33L|HLA-A_ENST00000376806.5_Missense_Mutation_p.F33L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	33	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAGGTATTTCTTCACATCCGT	0.721									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.F33L		Atlas-SNP	.											HLA-A,NS,lymphoid_neoplasm,-1,1	HLA-A	89	1	0			c.T97C						scavenged	.						16	15	15					6																	29910557		2182	4266	6448	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TATTTCTTCACAT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.97T>C	6.37:g.29910557T>C	ENSP00000379873:p.Phe33Leu	Somatic	125	2	0.016		WXS	Illumina HiSeq	Phase_I	129	5	0.0387597	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	4.503	0.093287	0.08632	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00008	9.56;9.56;9.56;9.56	3.72	-7.44	0.01379	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	20.031000	0.00447	U	0.000090	T	0.00039	0.0001	M	0.76170	2.325	0.09310	N	1	B;B;B	0.20988	0.049;0.025;0.05	B;B;B	0.30782	0.12;0.066;0.066	T	0.33954	-0.9848	10	0.87932	D	0	.	3.506	0.07691	0.123:0.4384:0.2366:0.202	.	33;33;33	Q5SRN7;Q5SRN5;P04439	.;.;1A03_HUMAN	L	33	ENSP00000379873:F33L;ENSP00000366002:F33L;ENSP00000366005:F33L;ENSP00000365998:F33L	ENSP00000348012:F33L	F	+	1	0	HLA-A	30018536	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-9.226000	0.00013	-2.974000	0.00285	-0.712000	0.03635	TTC	A|0.086;T|0.914	.	strong		0.721	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29910557	T	C	29910557	3	2	39	1	0	0	0	0	1	0	0	0	7195	1609	56	3	103	3	HLA-A	6	29910557	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	113121	29910557	141204510	40	24067	494	2								
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910558	29910558	+	Missense_Mutation	SNP	T	T	A													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccactccatgaggtatttctTcacatccgtgtcccggcccg					rs386698549|rs2075684	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29910558T>A	ENST00000396634.1	+	4	439	c.98T>A	c.(97-99)tTc>tAc	p.F33Y	HLA-A_ENST00000376809.5_Missense_Mutation_p.F33Y|HLA-A_ENST00000376802.2_Missense_Mutation_p.F33Y|HLA-A_ENST00000376806.5_Missense_Mutation_p.F33Y			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	33	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.F33S(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGGTATTTCTTCACATCCGTG	0.726									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			N|||	1103	0.220248	0.1641	0.1556	5008	,	,		13512	0.3333		0.1471	False		,,,				2504	0.3006				p.F33Y		Atlas-SNP	.											HLA-A,NS,lymphoid_neoplasm,0,1	HLA-A	89	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.T98A						scavenged	.						16	15	15					6																	29910558		2180	4265	6445	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	ATTTCTTCACATC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.98T>A	6.37:g.29910558T>A	ENSP00000379873:p.Phe33Tyr	Somatic	128	2	0.015625		WXS	Illumina HiSeq	Phase_I	129	5	0.0387597	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	3.323	-0.138290	0.06669	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00008	9.61;9.61;9.61;9.61	3.72	-2.31	0.06765	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	20.031000	0.00447	N	0.000090	T	0.00012	0.0000	.	.	.	0.09310	N	1	B;B;B	0.24092	0.097;0.0;0.0	B;B;B	0.42062	0.374;0.002;0.002	T	0.28902	-1.0029	9	0.02654	T	1	.	5.7818	0.18310	0.2651:0.4571:0.0:0.2778	rs2075684;rs3179175;rs17423951;rs41542415	33;33;33	Q5SRN7;Q5SRN5;P04439	.;.;1A03_HUMAN	Y	33	ENSP00000379873:F33Y;ENSP00000366002:F33Y;ENSP00000366005:F33Y;ENSP00000365998:F33Y	ENSP00000348012:F33Y	F	+	2	0	HLA-A	30018537	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-6.129000	0.00079	-0.931000	0.03746	-4.308000	0.00007	TTC	T|0.574;C|0.414;A|0.012	0.012	strong		0.726	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910558	T	A	29910558	3	1	39	1	0	0	0	0	1	0	0	0	7195	1783	62	5	104	5	HLA-A	6	29910558	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	1	29910558	141204509	41	24068	494	2								
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910609	29910609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gccccgcttcatcgccgtggGctacgtggacgacacgcagt	13	15	1	0	rs199474372		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:29910609G>T	ENST00000396634.1	+	4	490	c.149G>T	c.(148-150)gGc>gTc	p.G50V	HLA-A_ENST00000376809.5_Missense_Mutation_p.G50V|HLA-A_ENST00000376802.2_Missense_Mutation_p.G50V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G50V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	50	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATCGCCGTGGGCTACGTGGAC	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.G50V		Atlas-SNP	.											.	HLA-A	89	.	0			c.G149T						PASS	.						38	33	35					6																	29910609		2202	4299	6501	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CCGTGGGCTACGT	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.149G>T	6.37:g.29910609G>T	ENSP00000379873:p.Gly50Val	Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	200	107	0.535	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.768304	0.49680	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01438	4.89;4.89;4.89;4.89	3.72	3.72	0.42706	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.000000	0.34110	U	0.004248	T	0.12817	0.0311	H	0.99859	4.855	0.48975	D	0.999735	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;1.0;0.999;1.0;0.999	T	0.14727	-1.0462	10	0.87932	D	0	.	11.3314	0.49479	0.0:0.0:1.0:0.0	.	50;50;50;50;50	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	V	50	ENSP00000379873:G50V;ENSP00000366002:G50V;ENSP00000366005:G50V;ENSP00000365998:G50V	ENSP00000348012:G50V	G	+	2	0	HLA-A	30018588	0.997000	0.39634	0.992000	0.48379	0.629000	0.37895	2.884000	0.48562	2.112000	0.64535	0.478000	0.44815	GGC	.	.	alt		0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29910609	G	T	29910609	3	4	39	1	0	0	0	0	1	0	0	0	7195	1203	42	4	155	4	HLA-A	6	29910609	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	51	29910609	141204458	42	24069										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238009	31238009	+	Silent	SNP	T	T	C													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cagctcagggtgaggggctcTtgcagcccctcgtgctgcat					rs1131014	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497				p.Q291Q		Atlas-SNP	.											HLA-C_ENST00000383329,colon,carcinoma,0,2	HLA-C	92	2	0			c.A873G						scavenged	.						23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107	exon4			GGGCTCTTGCAGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.873A>G	6.37:g.31238009T>C		Somatic	81	20	0.246914		WXS	Illumina HiSeq	Phase_I	56	44	0.785714	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG	T|0.651;C|0.349	0.349	strong		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	39	1	0	0	0	0	0	0	0	1	7197	1606	56	3		3	HLA-C	6	31238009	Silent	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	1327400	31238009	139877058	43	24070	495	2	1	109		4	3	998	N	T_G	7.945161e-06
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238010	31238010	+	Missense_Mutation	SNP	T	T	G													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agctcagggtgaggggctctTgcagcccctcgtgctgcata					rs1131015	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:31238010T>G	ENST00000376228.5	-	4	886	c.872A>C	c.(871-873)cAa>cCa	p.Q291P	HLA-C_ENST00000383329.3_Missense_Mutation_p.Q291P	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGGGGCTCTTGCAGCCCCTC	0.587													g|||	3612	0.721246	0.6891	0.7723	5008	,	,		13143	0.7758		0.6909	False		,,,				2504	0.7035				p.Q291P		Atlas-SNP	.											HLA-C_ENST00000383329,colon,carcinoma,+1,2	HLA-C	92	2	0			c.A872C						scavenged	.						23	30	28					6																	31238010		2131	4204	6335	SO:0001583	missense	3107	exon4			GGCTCTTGCAGCC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.872A>C	6.37:g.31238010T>G	ENSP00000365402:p.Gln291Pro	Somatic	81	20	0.246914		WXS	Illumina HiSeq	Phase_I	58	46	0.793103	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	1245|1245	0.570054945054945|0.570054945054945	247|247	0.5020325203252033|0.5020325203252033	233|233	0.643646408839779|0.643646408839779	365|365	0.6381118881118881|0.6381118881118881	400|400	0.5277044854881267|0.5277044854881267	.|.	0.011|0.011	-1.716298|-1.716298	0.00706|0.00706	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.02787	.|4.16;4.16	2.67|2.67	-1.54|-1.54	0.08584|0.08584	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|0.909660	.|0.08985	.|N	.|0.865274	T|T	0.00300|0.00300	0.0009|0.0009	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|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|T	0.44205|0.44205	-0.9343|-0.9343	3|8	.|0.02654	.|T	.|1	.|.	3.57|3.57	0.07913|0.07913	0.2392:0.0:0.4421:0.3187|0.2392:0.0:0.4421:0.3187	rs2308624;rs2308625;rs9264631|rs2308624;rs2308625;rs9264631	.|291;291;291;291	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	Q|P	255|291;291;291;328	.|ENSP00000365402:Q291P;ENSP00000372819:Q291P	.|ENSP00000365402:Q291P	K|Q	-|-	1|2	0|0	HLA-C|HLA-C	31345989|31345989	0.015000|0.015000	0.18098|0.18098	0.113000|0.113000	0.21522|0.21522	0.012000|0.012000	0.07955|0.07955	0.038000|0.038000	0.13862|0.13862	-0.793000|-0.793000	0.04475|0.04475	-2.419000|-2.419000	0.00218|0.00218	AAG|CAA	T|0.429;G|0.571	0.571	strong		0.587	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31238010	T	G	31238010	3	3	39	1	0	0	0	0	1	0	0	0	7197	1812	63	5	248	5	HLA-C	6	31238010	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	1	31238010	139877057	44	24071	495	2	1	109		4	3	998	N	T_G	7.945161e-06
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238983	31238983	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cgctgggtgatctgagccgcGgtgtccgcggcggtccagga	18	12	1	2	rs200155513|rs2308585	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:31238983G>C	ENST00000376228.5	-	3	500	c.486C>G	c.(484-486)acC>acG	p.T162T	HLA-C_ENST00000383329.3_Silent_p.T162T	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	162	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGAGCCGCGGTGTCCGCGG	0.692													N|||	2273	0.453874	0.4728	0.4424	5008	,	,		10880	0.4563		0.4056	False		,,,				2504	0.4836				p.T162T		Atlas-SNP	.											HLA-C_ENST00000383329,NS,carcinoma,0,2	HLA-C	92	2	0			c.C486G						scavenged	.						30	22	25					6																	31238983		2142	4169	6311	SO:0001819	synonymous_variant	3107	exon3			AGCCGCGGTGTCC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.486C>G	6.37:g.31238983G>C		Somatic	121	3	0.0247934		WXS	Illumina HiSeq	Phase_I	156	17	0.108974	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	1058	0.48443223443223443	236	0.4796747967479675	198	0.5469613259668509	283	0.49475524475524474	341	0.449868073878628	.	5.989	0.366349	0.11352	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	-2.02	0.07388	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.44605	-0.9317	3	.	.	.	.	15.0314	0.71710	0.0:0.2262:0.7738:0.0	rs2308585;rs9264657	.	.	.	G	162	.	.	R	-	1	0	HLA-C	31346962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.817000	0.00359	-0.877000	0.04012	-0.676000	0.03789	CGC	G|0.514;C|0.486	0.486	strong		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238983	G	C	31238983	2	2	39	1	0	0	0	0	0	0	0	1	7197	1103	39	4		4	HLA-C	6	31238983	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	973	31238983	139876084	45	24072			1	109		4	3	998	N	T_G	7.945161e-06
HLA-C	3107	hgsc.bcm.edu	37	chr6	31239006	31239006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtccgcggcggtccaggagcGcaggtcctcgttcagggcga	17	13	1	0	rs76907552		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:31239006G>T	ENST00000376228.5	-	3	477	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	HLA-C_ENST00000383329.3_Missense_Mutation_p.R155S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	155	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.R155S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCCAGGAGCGCAGGTCCTCG	0.697																																					p.R155S		Atlas-SNP	.											HLA-C,trunk,malignant_melanoma,0,1	HLA-C	92	1	1	Substitution - Missense(1)	skin(1)	c.C463A						scavenged	.						35	27	30					6																	31239006		2178	4236	6414	SO:0001583	missense	3107	exon3			AGGAGCGCAGGTC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.463C>A	6.37:g.31239006G>T	ENSP00000365402:p.Arg155Ser	Somatic	112	3	0.0267857		WXS	Illumina HiSeq	Phase_I	161	18	0.111801	NM_002117	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	539|539	0.2467948717948718|0.2467948717948718	144|144	0.2926829268292683|0.2926829268292683	105|105	0.2900552486187845|0.2900552486187845	109|109	0.19055944055944055|0.19055944055944055	181|181	0.23878627968337732|0.23878627968337732	.|.	13.99|13.99	2.401987|2.401987	0.42613|0.42613	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00753	.|5.74;5.74	2.81|2.81	0.177|0.177	0.15054|0.15054	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.196610	.|0.06966	.|N	.|0.817182	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.71206|0.71206	2.165|2.165	0.42157|0.42157	P|P	0.008411999999999975|0.008411999999999975	.|D;B;D;B	.|0.63046	.|0.992;0.016;0.992;0.005	.|D;B;D;B	.|0.85130	.|0.997;0.103;0.997;0.049	T|T	0.46898|0.46898	-0.9158|-0.9158	4|9	.|0.54805	.|T	.|0.06	.|.	5.7525|5.7525	0.18154|0.18154	0.0:0.1715:0.3014:0.5271|0.0:0.1715:0.3014:0.5271	.|.	.|155;155;155;155	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	E|S	154|155;155;155;192	.|ENSP00000365402:R155S;ENSP00000372819:R155S	.|ENSP00000365402:R155S	A|R	-|-	2|1	0|0	HLA-C|HLA-C	31346985|31346985	0.000000|0.000000	0.05858|0.05858	0.994000|0.994000	0.49952|0.49952	0.090000|0.090000	0.18270|0.18270	-1.467000|-1.467000	0.02352|0.02352	0.025000|0.025000	0.15241|0.15241	-0.692000|-0.692000	0.03713|0.03713	GCG|CGC	G|0.754;T|0.246	0.246	strong		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239006	G	T	31239006	3	4	39	1	0	0	0	0	1	0	0	0	7197	1087	38	4	661	4	HLA-C	6	31239006	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	23	31239006	139876061	46	24073			1	109		4	3	998	N	T_G	7.945161e-06
RUNX2	860	hgsc.bcm.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																					p.Q71E		Atlas-SNP	.											RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2	128	2	0			c.C211G						scavenged	.						6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860	exon3			CAGCAGCAGGAGG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu	Somatic	17	1	0.0588235		WXS	Illumina HiSeq	Phase_I	24	2	0.0833333	NM_001024630	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG	.	.	none		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45390482	C	G	45390482	3	3	39	1	0	0	0	0	1	0	0	0	13748	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	14151476	45390482	125724585	47	24074										
CRISP3	10321	hgsc.bcm.edu	37	chr6	49704124	49704124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	catcttcagcatgtttctggCagggggagatactgctctcc	11	11	4	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:49704124C>A	ENST00000393666.1	-	2	175	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000433368.2_Missense_Mutation_p.A80S|CRISP3_ENST00000263045.4_Missense_Mutation_p.A70S|CRISP3_ENST00000371159.4_Missense_Mutation_p.A88S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	57	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATGTTTCTGGCAGGGGGAGAT	0.458																																					p.A80S		Atlas-SNP	.											.	CRISP3	67	.	0			c.G238T						PASS	.						183	163	170					6																	49704124		2203	4300	6503	SO:0001583	missense	10321	exon3			TTCTGGCAGGGGG	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.169G>T	6.37:g.49704124C>A	ENSP00000377274:p.Ala57Ser	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	107	37	0.345794	NM_001190986	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		.	.	.	.	.	.	.	.	.	.	C	17.17	3.321590	0.60634	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.9	4.02	0.46733	CAP domain (3);	0.000000	0.64402	U	0.000005	T	0.54565	0.1866	H	0.94222	3.51	0.80722	D	1	P	0.50943	0.94	D	0.66602	0.945	T	0.67059	-0.5766	10	0.87932	D	0	.	11.4692	0.50257	0.0:0.8177:0.1823:0.0	.	57	P54108	CRIS3_HUMAN	S	70;80;57;88;80	ENSP00000263045:A70S;ENSP00000389026:A80S;ENSP00000377274:A57S;ENSP00000360201:A88S;ENSP00000346636:A80S	ENSP00000263045:A70S	A	-	1	0	CRISP3	49812083	0.735000	0.28153	0.754000	0.31244	0.652000	0.38707	1.138000	0.31491	1.179000	0.42884	0.561000	0.74099	GCC	.	.	none		0.458	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		A	49704124	C	A	49704124	3	1	39	1	0	0	0	0	1	0	0	0	3881	710	25	4	592	4	CRISP3	6	49704124	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	4313642	49704124	121410943	48	24075										
CTGF	1490	hgsc.bcm.edu	37	chr6	132271952	132271952	+	Missense_Mutation	SNP	G	G	C													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gttggccggggagccgaagtGacagaataggcccttgtgcg					rs7451102		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:132271952G>C	ENST00000367976.3	-	2	447	c.247C>G	c.(247-249)Cac>Gac	p.H83D	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	83	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.		H -> D (in dbSNP:rs7451102). {ECO:0000269|PubMed:1293144, ECO:0000269|PubMed:1654338, ECO:0000269|PubMed:9054739, ECO:0000269|Ref.12, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GAGCCGAAGTGACAGAATAGG	0.711													C|||	5007	0.9998	1.0	1.0	5008	,	,		8487	1.0		0.999	False		,,,				2504	1.0				p.H83D	Esophageal Squamous(127;510 1660 12817 24400 38449)	Atlas-SNP	.											.	CTGF	36	.	0			c.C247G						PASS	.						7	8	7					6																	132271952		2119	4187	6306	SO:0001583	missense	1490	exon2			CGAAGTGACAGAA	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.247C>G	6.37:g.132271952G>C	ENSP00000356954:p.His83Asp	Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_001901	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	2184	1.0	492	1.0	362	1.0	572	1.0	758	1.0	C	8.018	0.758919	0.15846	.	.	ENSG00000118523	ENST00000367976	T	0.62232	0.04	5.28	5.28	0.74379	Insulin-like growth factor-binding protein, IGFBP (2);	0.048665	0.85682	N	0.000000	T	0.06781	0.0173	N	0.00042	-2.475	0.40675	P	0.017750000000000044	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.02654	T	1	.	15.7931	0.78384	0.0:0.863:0.137:0.0	rs7451102;rs59294435	83	P29279	CTGF_HUMAN	D	83	ENSP00000356954:H83D	ENSP00000356954:H83D	H	-	1	0	CTGF	132313645	1.000000	0.71417	0.923000	0.36655	0.645000	0.38454	4.000000	0.57039	1.236000	0.43740	-0.293000	0.09583	CAC	G|0.000;C|1.000	1.000	strong		0.711	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		C	132271952	G	C	132271952	3	2	39	1	0	0	0	0	1	0	0	0	4008	1290	45	4	818	4	CTGF	6	132271952	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	82567828	132271952	38843115	49	24076	496	2								
CTGF	1490	hgsc.bcm.edu	37	chr6	132271959	132271959	+	Silent	SNP	T	T	G													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ggggagccgaagtgacagaaTaggcccttgtgcgggtcgca					rs12206231		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr6:132271959T>G	ENST00000367976.3	-	2	440	c.240A>C	c.(238-240)ctA>ctC	p.L80L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		AGTGACAGAATAGGCCCTTGT	0.701													G|||	5008	1.0	1.0	1.0	5008	,	,		8368	1.0		1.0	False		,,,				2504	1.0				p.L80L	Esophageal Squamous(127;510 1660 12817 24400 38449)	Atlas-SNP	.											.	CTGF	36	.	0			c.A240C						PASS	.						7	8	7					6																	132271959		2127	4192	6319	SO:0001819	synonymous_variant	1490	exon2			ACAGAATAGGCCC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.240A>C	6.37:g.132271959T>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	5	5	1	NM_001901	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000	1.000	strong		0.701	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271959	T	G	132271959	2	3	39	1	0	0	0	0	0	0	0	1	4008	1393	49	5		5	CTGF	6	132271959	Silent	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	7	132271959	38843108	50	24077	496	2								
ADAM22	53616	hgsc.bcm.edu	37	chr7	87765308	87765308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctcttaggtgaatgtaaatgCgaggacacgtggtccgggtg	15	7	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr7:87765308C>T	ENST00000265727.7	+	14	1261	c.1182C>T	c.(1180-1182)tgC>tgT	p.C394C	ADAM22_ENST00000398204.4_Silent_p.C394C|ADAM22_ENST00000315984.7_Silent_p.C394C|ADAM22_ENST00000398201.4_Silent_p.C394C|ADAM22_ENST00000398209.3_Silent_p.C394C			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	394	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AATGTAAATGCGAGGACACGT	0.383																																					p.C394C		Atlas-SNP	.											.	ADAM22	280	.	0			c.C1182T						PASS	.						177	167	170					7																	87765308		1890	4107	5997	SO:0001819	synonymous_variant	53616	exon14			TAAATGCGAGGAC	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1182C>T	7.37:g.87765308C>T		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	72	19	0.263889	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																			.	.	none		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		T	87765308	C	T	87765308	2	4	39	1	0	0	0	0	0	0	0	1	244	776	27	1		1	ADAM22	7	87765308	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		87765308	71373355	51	24078										
AHCYL2	23382	hgsc.bcm.edu	37	chr7	129028933	129028933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tagctctgatgatgagacatCgcccagggacaagcagcaaa	11	10	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr7:129028933C>T	ENST00000325006.3	+	3	566	c.512C>T	c.(511-513)tCg>tTg	p.S171L	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S69L|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S170L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S90L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	171					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GATGAGACATCGCCCAGGGAC	0.398																																					p.S171L	Pancreas(160;1736 1964 29875 40941 45605)	Atlas-SNP	.											AHCYL2,caecum,carcinoma,-1,1	AHCYL2	79	1	0			c.C512T						scavenged	.						100	94	96					7																	129028933		2203	4300	6503	SO:0001583	missense	23382	exon3			AGACATCGCCCAG	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.512C>T	7.37:g.129028933C>T	ENSP00000315931:p.Ser171Leu	Somatic	175	1	0.00571429		WXS	Illumina HiSeq	Phase_I	180	77	0.427778	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.086009|5.086009	0.94100|0.94100	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.15;-1.14;-1.14;-1.14;-0.96	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85039|0.85039	0.5606|0.5606	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.996;0.996;0.996;0.996;0.998	D|D	0.86023|0.86023	0.1508|0.1508	5|10	.|0.87932	.|D	.|0	-15.2176|-15.2176	18.6782|18.6782	0.91537|0.91537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|68;69;171;68;170	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	C|L	78|171;170;90;69;68;69;68;69	.|ENSP00000315931:S171L;ENSP00000413639:S170L;ENSP00000431787:S90L;ENSP00000420459:S68L;ENSP00000405267:S69L;ENSP00000420801:S68L;ENSP00000419608:S69L	.|ENSP00000315931:S171L	R|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128816169|128816169	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	7.776000|7.776000	0.85560|0.85560	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	CGC|TCG	.	.	none		0.398	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129028933	C	T	129028933	3	4	39	1	0	0	0	0	1	0	0	0	411	893	31	1	644	1	AHCYL2	7	129028933	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	41263625	129028933	30109730	52	24079										
TNFRSF10C	8794	hgsc.bcm.edu	37	chr8	22974315	22974315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agctgctgaagagacaatgaAcaccagcccggggactcctg	12	12	0	3	rs61736405		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:22974315A>C	ENST00000356864.3	+	5	1083	c.551A>C	c.(550-552)aAc>aCc	p.N184T	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.N82T	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	184					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.N184T(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGACAATGAACACCAGCCCG	0.602																																					p.N184T		Atlas-SNP	.											TNFRSF10C,trunk,malignant_melanoma,0,1	TNFRSF10C	30	1	1	Substitution - Missense(1)	skin(1)	c.A551C						scavenged	.						68	80	76					8																	22974315		2203	4297	6500	SO:0001583	missense	8794	exon5			CAATGAACACCAG	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.551A>C	8.37:g.22974315A>C	ENSP00000349324:p.Asn184Thr	Somatic	132	3	0.0227273		WXS	Illumina HiSeq	Phase_I	108	4	0.037037	NM_003841	O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	A	1.881	-0.457883	0.04508	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.62788	0.0;1.25	.	.	.	.	0.568776	0.17737	U	0.163718	T	0.28400	0.0702	N	0.03608	-0.345	0.22213	N	0.999289	P	0.38110	0.618	B	0.33690	0.168	T	0.14924	-1.0455	9	0.37606	T	0.19	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	rs61736405	184	O14798	TR10C_HUMAN	T	184;82;184	ENSP00000349324:N184T;ENSP00000437612:N82T	ENSP00000349324:N184T	N	+	2	0	TNFRSF10C	23030260	0.001000	0.12720	0.054000	0.19295	0.104000	0.19210	0.918000	0.28678	0.077000	0.16863	0.076000	0.15429	AAC	A|0.013;C|0.987	0.987	weak		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			C	22974315	A	C	22974315	3	2	39	1	0	0	0	0	1	0	0	0	16279	43	2	5	569	5	TNFRSF10C	8	22974315	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10		22974315	123389707	53	24080										
SLC25A37	51312	hgsc.bcm.edu	37	chr8	23429084	23429084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcatctcaggcgggctggccGgggccctcgccgcggccgcc	16	18	2	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:23429084G>A	ENST00000519973.1	+	4	931	c.733G>A	c.(733-735)Ggg>Agg	p.G245R	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	245					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.G245W(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CGGGCTGGCCGGGGCCCTCGC	0.652																																					p.G245R		Atlas-SNP	.											SLC25A37,NS,carcinoma,0,1	SLC25A37	27	1	1	Substitution - Missense(1)	lung(1)	c.G733A						PASS	.						25	29	28					8																	23429084		1907	4113	6020	SO:0001583	missense	51312	exon4			CTGGCCGGGGCCC	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.733G>A	8.37:g.23429084G>A	ENSP00000429200:p.Gly245Arg	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	86	35	0.406977	NM_016612	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004468	0.93287	.	.	ENSG00000147454	ENST00000519973	D	0.85339	-1.97	5.8	5.8	0.92144	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94984	0.8377	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.95928	0.8936	10	0.87932	D	0	-3.0931	18.6148	0.91299	0.0:0.0:1.0:0.0	.	245	Q9NYZ2	MFRN1_HUMAN	R	245	ENSP00000429200:G245R	ENSP00000429200:G245R	G	+	1	0	SLC25A37	23485029	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.460000	0.97641	2.740000	0.93945	0.650000	0.86243	GGG	.	.	none		0.652	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		A	23429084	G	A	23429084	3	1	39	1	0	0	0	0	1	0	0	0	14501	1116	39	1	747	1	SLC25A37	8	23429084	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	454769	23429084	122934938	54	24081										
EPHX2	2053	hgsc.bcm.edu	37	chr8	27382956	27382956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ggagagtatcaaagccaaccCagtatttgattaccagctct	8	10	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:27382956C>T	ENST00000521400.1	+	12	1566	c.1136C>T	c.(1135-1137)cCa>cTa	p.P379L	EPHX2_ENST00000517536.1_Missense_Mutation_p.P196L|EPHX2_ENST00000518379.1_Missense_Mutation_p.P347L|EPHX2_ENST00000380476.3_Missense_Mutation_p.P326L|EPHX2_ENST00000521780.1_Missense_Mutation_p.P313L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	379	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		AAAGCCAACCCAGTATTTGAT	0.478																																					p.P379L		Atlas-SNP	.											EPHX2,NS,carcinoma,-1,1	EPHX2	57	1	0			c.C1136T						PASS	.						161	143	149					8																	27382956		2203	4300	6503	SO:0001583	missense	2053	exon12			CCAACCCAGTATT	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1136C>T	8.37:g.27382956C>T	ENSP00000430269:p.Pro379Leu	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	154	55	0.357143	NM_001979	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470626	0.63625	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93	5.24	4.35	0.52113	Alpha/beta hydrolase fold-1 (1);	2.166600	0.01505	N	0.017652	T	0.21347	0.0514	M	0.81802	2.56	0.49582	D	0.999806	D;D;D	0.89917	0.993;0.998;1.0	D;D;D	0.74023	0.978;0.944;0.982	T	0.02868	-1.1100	10	0.24483	T	0.36	-1.3552	12.0912	0.53728	0.0:0.9128:0.0:0.0872	.	347;379;379	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	L	379;196;313;326;326;347	ENSP00000430269:P379L;ENSP00000428875:P196L;ENSP00000430302:P313L;ENSP00000369843:P326L;ENSP00000427956:P347L	ENSP00000369843:P326L	P	+	2	0	EPHX2	27438873	0.977000	0.34250	0.428000	0.26697	0.035000	0.12851	3.791000	0.55469	2.421000	0.82119	0.563000	0.77884	CCA	.	.	none		0.478	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			T	27382956	C	T	27382956	3	4	39	1	0	0	0	0	1	0	0	0	5180	594	21	2	1182	2	EPHX2	8	27382956	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	3953872	27382956	118981066	55	24082										
KIAA0146	23514	hgsc.bcm.edu	37	chr8	48614293	48614293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atttaaacagataaaaactcAtctgcctcctccagccttgt	4	12	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:48614293A>C	ENST00000297423.4	+	13	2168	c.1784A>C	c.(1783-1785)cAt>cCt	p.H595P	SPIDR_ENST00000517693.1_Missense_Mutation_p.H70P|SPIDR_ENST00000541342.1_Missense_Mutation_p.H525P|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.H535P	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	595					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											ATAAAAACTCATCTGCCTCCT	0.348																																					p.H595P		Atlas-SNP	.											KIAA0146,bladder,carcinoma,+1,1	KIAA0146	64	1	0			c.A1784C						PASS	.						129	121	124					8																	48614293		1882	4119	6001	SO:0001583	missense	23514	exon13			AAACTCATCTGCC	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1784A>C	8.37:g.48614293A>C	ENSP00000297423:p.His595Pro	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	111	40	0.36036	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.029|9.029	0.986713|0.986713	0.18889|0.18889	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362|ENST00000519401	.|.	.|.	.|.	5.4|5.4	2.96|2.96	0.34315|0.34315	.|.	0.536026|.	0.20846|.	N|.	0.084612|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.23442|.	0.001;0.001;0.013;0.011;0.085;0.009;0.001;0.05|.	B;B;B;B;B;B;B;B|.	0.18561|.	0.001;0.001;0.014;0.012;0.014;0.007;0.001;0.022|.	T|T	0.21861|0.21861	-1.0233|-1.0233	9|5	0.48119|.	T|.	0.1|.	.|.	6.9387|6.9387	0.24481|0.24481	0.7729:0.1496:0.0775:0.0|0.7729:0.1496:0.0775:0.0	.|.	85;100;535;525;595;284;70;595|.	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159|.	.;.;.;.;.;.;.;K0146_HUMAN|.	P|L	595;535;525;100;70;70|277	.|.	ENSP00000297423:H595P|.	H|I	+|+	2|1	0|0	KIAA0146|KIAA0146	48776846|48776846	0.000000|0.000000	0.05858|0.05858	0.056000|0.056000	0.19401|0.19401	0.921000|0.921000	0.55340|0.55340	0.966000|0.966000	0.29331|0.29331	0.336000|0.336000	0.23639|0.23639	0.528000|0.528000	0.53228|0.53228	CAT|ATC	.	.	none		0.348	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		C	48614293	A	C	48614293	3	2	39	1	0	0	0	0	1	0	0	0	8157	217	8	5	1834	5	KIAA0146	8	48614293	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	21231337	48614293	97749729	56	24083										
MOS	4342	hgsc.bcm.edu	37	chr8	57026520	57026520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctcgctccggaggtaggggcGtagggccaggggcgagggca	21	10	0	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:57026520G>A	ENST00000311923.1	-	1	21	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	8					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGTAGGGGCGTAGGGCCAGG	0.642																																					p.R8C	Esophageal Squamous(124;373 2870 4778)	Atlas-SNP	.											.	MOS	63	.	0			c.C22T						PASS	.						14	17	16					8																	57026520		2187	4271	6458	SO:0001583	missense	4342	exon1			AGGGGCGTAGGGC		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.22C>T	8.37:g.57026520G>A	ENSP00000310722:p.Arg8Cys	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	112	33	0.294643	NM_005372	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763732	0.31228	.	.	ENSG00000172680	ENST00000311923	D	0.81739	-1.53	5.14	0.608	0.17569	.	0.727768	0.12172	N	0.492935	T	0.53254	0.1785	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46219	-0.9207	10	0.62326	D	0.03	.	0.6283	0.00789	0.1882:0.23:0.3053:0.2765	.	8	P00540	MOS_HUMAN	C	8	ENSP00000310722:R8C	ENSP00000310722:R8C	R	-	1	0	MOS	57189074	0.028000	0.19301	0.000000	0.03702	0.008000	0.06430	2.093000	0.41710	0.541000	0.28827	0.557000	0.71058	CGC	.	.	none		0.642	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		A	57026520	G	A	57026520	3	1	39	1	0	0	0	0	1	0	0	0	9712	1145	40	1	1021	1	MOS	8	57026520	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	8412227	57026520	89337502	57	24084										
C8orf84	157869	hgsc.bcm.edu	37	chr8	73993379	73993379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcaccgagcgcctccgcacaCgggttgtaggcttgcactgg	14	14	0	0	rs34728970		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:73993379C>T	ENST00000297354.6	-	2	488	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	95	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CCTCCGCACACGGGTTGTAGG	0.652																																					p.R95H		Atlas-SNP	.											C8orf84,NS,carcinoma,-1,1	.	.	1	0			c.G284A						scavenged	.						65	72	70					8																	73993379		2021	4174	6195	SO:0001583	missense	157869	exon2			CGCACACGGGTTG		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.284G>A	8.37:g.73993379C>T	ENSP00000297354:p.Arg95His	Somatic	151	1	0.00662252		WXS	Illumina HiSeq	Phase_I	170	59	0.347059	NM_153225	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888198	0.91814	.	.	ENSG00000164764	ENST00000297354	T	0.21191	2.02	5.29	4.4	0.53042	.	0.118037	0.56097	D	0.000031	T	0.44117	0.1278	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.52026	-0.8630	10	0.66056	D	0.02	-5.0986	15.3079	0.74008	0.1412:0.8588:0.0:0.0	.	95	Q8IVN8	RPESP_HUMAN	H	95	ENSP00000297354:R95H	ENSP00000297354:R95H	R	-	2	0	C8orf84	74155933	1.000000	0.71417	0.971000	0.41717	0.926000	0.56050	5.388000	0.66249	1.204000	0.43247	0.591000	0.81541	CGT	.	.	none		0.652	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		T	73993379	C	T	73993379	3	4	39	1	0	0	0	0	1	0	0	0	2440	536	19	1	526	1	C8orf84	8	73993379	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	16966859	73993379	72370643	58	24085										
STK3	6788	hgsc.bcm.edu	37	chr8	99608261	99608261	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcgaggcacaagcactgaccTgtaaaagttgtgttgcagta	11	8	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:99608261T>C	ENST00000419617.2	-	7	961	c.821A>G	c.(820-822)cAg>cGg	p.Q274R	STK3_ENST00000521768.1_5'UTR|STK3_ENST00000523601.1_Splice_Site_p.Q302R	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AGCACTGACCTGTAAAAGTTG	0.403																																					p.Q302R		Atlas-SNP	.											STK3,NS,carcinoma,+1,1	STK3	47	1	0			c.A905G						scavenged	.						67	64	65					8																	99608261		1906	4103	6009	SO:0001630	splice_region_variant	6788	exon9			CTGACCTGTAAAA	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.822+1A>G	8.37:g.99608261T>C		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	121	3	0.0247934	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311827	0.60414	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.66099	-0.19;-0.19;-0.19	5.28	4.1	0.47936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058483	0.64402	D	0.000001	T	0.45054	0.1323	N	0.11427	0.14	0.53688	D	0.999976	P;B;P	0.40282	0.49;0.344;0.711	B;B;B	0.41646	0.162;0.273;0.362	T	0.46582	-0.9181	10	0.48119	T	0.1	.	11.701	0.51571	0.1327:0.0:0.0:0.8673	.	163;274;302	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	R	274;302;163	ENSP00000390500:Q274R;ENSP00000429744:Q302R;ENSP00000428014:Q163R	ENSP00000390500:Q274R	Q	-	2	0	STK3	99677437	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.997000	0.88414	0.929000	0.37192	0.383000	0.25322	CAG	.	.	none		0.403	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	Missense_Mutation	C	99608261	T	C	99608261	5	2	39	1	0	0	0	0	0	0	1	0	15294	1594	55	3	674	3	STK3	8	99608261	Splice_Site	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	25614882	99608261	46755761	59	24086										
ZHX2	22882	hgsc.bcm.edu	37	chr8	123966206	123966206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcaggctgcggcagaaggtgTgtcggaactggctgaatcag	16	8	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr8:123966206T>C	ENST00000314393.4	+	3	3291	c.2456T>C	c.(2455-2457)gTg>gCg	p.V819A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	819					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGAAGGTGTGTCGGAACTG	0.597																																					p.V819A	Esophageal Squamous(94;1056 1388 11767 13799 49639)	Atlas-SNP	.											.	ZHX2	106	.	0			c.T2456C						PASS	.						101	73	82					8																	123966206		2203	4300	6503	SO:0001583	missense	22882	exon3			AAGGTGTGTCGGA	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2456T>C	8.37:g.123966206T>C	ENSP00000314709:p.Val819Ala	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	98	50	0.510204	NM_014943		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.328921	0.00229	.	.	ENSG00000178764	ENST00000314393	T	0.16073	2.37	6.04	-2.28	0.06826	.	2.219640	0.01526	N	0.018567	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	10	0.08179	T	0.78	0.1412	0.4746	0.00538	0.2626:0.3085:0.1678:0.2611	.	819	Q9Y6X8	ZHX2_HUMAN	A	819	ENSP00000314709:V819A	ENSP00000314709:V819A	V	+	2	0	ZHX2	124035387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.290000	0.18975	-0.298000	0.08921	-2.109000	0.00356	GTG	.	.	none		0.597	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		C	123966206	T	C	123966206	3	2	39	1	0	0	0	0	1	0	0	0	17673	1696	59	2	2458	2	ZHX2	8	123966206	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	24357945	123966206	22397816	60	24087										
KDM4C	23081	hgsc.bcm.edu	37	chr9	6986601	6986601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atgtggagagccatgggaatGgccttgaacctggggaaatc	15	7	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr9:6986601G>T	ENST00000381309.3	+	11	2177	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C	KDM4C_ENST00000543771.1_Missense_Mutation_p.G538C|KDM4C_ENST00000536108.1_Missense_Mutation_p.G357C|KDM4C_ENST00000381306.3_Missense_Mutation_p.G538C|KDM4C_ENST00000535193.1_Missense_Mutation_p.G560C|KDM4C_ENST00000428870.2_Missense_Mutation_p.G225C|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	538					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CCATGGGAATGGCCTTGAACC	0.478																																					p.G560C		Atlas-SNP	.											KDM4C_ENST00000381306,right_upper_lobe,carcinoma,-2,2	KDM4C	186	2	0			c.G1678T						scavenged	.						89	80	83					9																	6986601		2203	4300	6503	SO:0001583	missense	23081	exon11			GGGAATGGCCTTG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1612G>T	9.37:g.6986601G>T	ENSP00000370710:p.Gly538Cys	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	141	2	0.0141844	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086548	0.55861	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.3	1.31	0.21738	.	2.090350	0.01795	N	0.032526	T	0.61476	0.2350	L	0.53249	1.67	0.27106	N	0.962497	D;D;B;D	0.69078	0.997;0.988;0.005;0.973	P;P;B;P	0.58873	0.847;0.8;0.006;0.724	T	0.43491	-0.9388	10	0.59425	D	0.04	-0.0306	9.2199	0.37370	0.4198:0.0:0.5802:0.0	.	538;560;538;538	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	C	560;538;538;538;357;225	ENSP00000442382:G560C;ENSP00000445427:G538C;ENSP00000370710:G538C;ENSP00000370707:G538C;ENSP00000440656:G357C;ENSP00000405739:G225C	ENSP00000370707:G538C	G	+	1	0	KDM4C	6976601	0.977000	0.34250	0.142000	0.22268	0.835000	0.47333	0.803000	0.27083	0.068000	0.16574	0.655000	0.94253	GGC	.	.	none		0.478	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	6986601	G	T	6986601	3	4	39	1	0	0	0	0	1	0	0	0	8130	1348	47	4	1720	4	KDM4C	9	6986601	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		6986601	134226830	61	24088										
MURC	347273	hgsc.bcm.edu	37	chr9	103348299	103348299	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttgacaagaaagtgaacagaAttagaactagaatagtgacc	9	5	0	7			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr9:103348299A>T	ENST00000307584.5	+	2	726	c.661A>T	c.(661-663)Att>Ttt	p.I221F		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	221					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGTGAACAGAATTAGAACTAG	0.478																																					p.I221F		Atlas-SNP	.											.	MURC	43	.	0			c.A661T						PASS	.						110	118	115					9																	103348299		2203	4300	6503	SO:0001583	missense	347273	exon2			AACAGAATTAGAA	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.661A>T	9.37:g.103348299A>T	ENSP00000418668:p.Ile221Phe	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	115	38	0.330435	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955464	0.53293	.	.	ENSG00000170681	ENST00000307584	T	0.61274	0.12	5.27	4.09	0.47781	.	0.186907	0.46758	D	0.000270	T	0.51466	0.1676	L	0.49126	1.545	0.44603	D	0.997578	P	0.41131	0.739	B	0.40066	0.318	T	0.52548	-0.8561	10	0.56958	D	0.05	-8.7658	10.5979	0.45349	0.838:0.162:0.0:0.0	.	221	Q5BKX8	MURC_HUMAN	F	221	ENSP00000418668:I221F	ENSP00000418668:I221F	I	+	1	0	MURC	102388120	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.488000	0.45276	0.905000	0.36596	0.459000	0.35465	ATT	.	.	none		0.478	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		T	103348299	A	T	103348299	3	4	39	1	0	0	0	0	1	0	0	0	9987	101	4	5	667	5	MURC	9	103348299	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	96361698	103348299	37865132	62	24089										
PTPN3	5774	hgsc.bcm.edu	37	chr9	112225710	112225710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccaacgcacgtaaccgggagGtcataactatcgctgaataa	9	11	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr9:112225710G>C	ENST00000374541.2	-	2	109	c.5C>G	c.(4-6)aCc>aGc	p.T2S	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	2					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAACCGGGAGGTCATAACTAT	0.408																																					p.T2S		Atlas-SNP	.											.	PTPN3	106	.	0			c.C5G						PASS	.						100	99	100					9																	112225710		2203	4300	6503	SO:0001583	missense	5774	exon2			CGGGAGGTCATAA		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.5C>G	9.37:g.112225710G>C	ENSP00000363667:p.Thr2Ser	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	103	36	0.349515	NM_001145368	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799131	0.50208	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.70749	-0.51	5.25	4.23	0.50019	.	0.157695	0.41396	D	0.000896	T	0.49932	0.1586	N	0.17082	0.46	0.80722	D	1	B;P;B	0.35612	0.172;0.512;0.067	B;B;B	0.31442	0.058;0.13;0.034	T	0.50363	-0.8837	10	0.29301	T	0.29	.	10.8355	0.46685	0.0:0.0:0.6104:0.3896	.	2;2;2	B7Z9V1;Q45VJ3;P26045	.;.;PTN3_HUMAN	S	2	ENSP00000363667:T2S	ENSP00000363667:T2S	T	-	2	0	PTPN3	111265531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.591000	0.53986	2.604000	0.88044	0.557000	0.71058	ACC	.	.	none		0.408	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			C	112225710	G	C	112225710	3	2	39	1	0	0	0	0	1	0	0	0	12789	1261	44	4	2836	4	PTPN3	9	112225710	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	8877411	112225710	28987721	63	24090										
MEGF9	1955	hgsc.bcm.edu	37	chr9	123367753	123367753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atgttaaattgggtccatgaTacatcagctaaagctgaagt	9	6	1	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr9:123367753T>C	ENST00000373930.3	-	6	1635	c.1524A>G	c.(1522-1524)gtA>gtG	p.V508V	MEGF9_ENST00000426959.1_Silent_p.V545V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	508						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGGTCCATGATACATCAGCTA	0.423																																					p.V508V		Atlas-SNP	.											.	MEGF9	33	.	0			c.A1524G						PASS	.						95	90	92					9																	123367753		1927	4140	6067	SO:0001819	synonymous_variant	1955	exon6			CCATGATACATCA	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1524A>G	9.37:g.123367753T>C		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	202	74	0.366337	NM_001080497	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																			.	.	none		0.423	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		C	123367753	T	C	123367753	2	2	39	1	0	0	0	0	0	0	0	1	9464	1393	49	2		2	MEGF9	9	123367753	Silent	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	11142043	123367753	17845678	64	24091										
DPP7	29952	hgsc.bcm.edu	37	chr9	140006642	140006644	+	In_Frame_Del	DEL	GTC	GTC	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctgtggtagagccggtagatGtcgtagcagtgctcggagcc					rs199861431		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr9:140006642_140006644delGTC	ENST00000371579.2	-	9	974_976	c.970_972delGAC	c.(970-972)gacdel	p.D324del		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	324						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)		GCCGGTAGATGTCGTAGCAGTGC	0.709																																					p.324_325del		Pindel	.											.	DPP7	22	.	0			c.971_973del						PASS	.																																			SO:0001651	inframe_deletion	29952	exon9			.	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.970_972delGAC	9.37:g.140006642_140006644delGTC	ENSP00000360635:p.Asp324del	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	24	24	1	NM_013379	A8K7U7|Q5VSF1|Q969X4	In_Frame_Del	DEL	ENST00000371579.2	37	CCDS7030.1																																																																																			.	.	none		0.709	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		-	140006644	GTC	-	140006642	7	5	39	1	0	1	0	1	0	0	0	0	4731	1368	48	0	526	0	DPP7	9	140006642	In_Frame_Del	DEL	GTC	TCGA-RQ-A6JB-01A-11D-A31X-10	16638889	140006642	1206789	65	24092										
NUDT5	11164	hgsc.bcm.edu	37	chr10	12215729	12215729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ataccaacctggagaacattCggcaatgtcccctttgtagc	8	12	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr10:12215729C>T	ENST00000491614.1	-	6	768	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	NUDT5_ENST00000378940.3_Missense_Mutation_p.E125K|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Missense_Mutation_p.E125K|NUDT5_ENST00000378937.3_Missense_Mutation_p.E138K|NUDT5_ENST00000537776.1_Missense_Mutation_p.E125K			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	125	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GGAGAACATTCGGCAATGTCC	0.463																																					p.E125K		Atlas-SNP	.											.	NUDT5	10	.	0			c.G373A						PASS	.						180	176	178					10																	12215729		2203	4300	6503	SO:0001583	missense	11164	exon6			AACATTCGGCAAT	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.373G>A	10.37:g.12215729C>T	ENSP00000419628:p.Glu125Lys	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	60	21	0.35	NM_014142	A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279041	0.80692	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.047168	0.85682	D	0.000000	T	0.18002	0.0432	L	0.28776	0.89	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	P;P	0.62491	0.903;0.707	T	0.01557	-1.1325	10	0.28530	T	0.3	-33.9397	20.3242	0.98691	0.0:1.0:0.0:0.0	.	125;125	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	K	125;125;138;125;125;125	ENSP00000419628:E125K;ENSP00000368219:E138K;ENSP00000445116:E125K;ENSP00000368222:E125K;ENSP00000368209:E125K	ENSP00000368209:E125K	E	-	1	0	NUDT5	12255735	1.000000	0.71417	0.984000	0.44739	0.547000	0.35210	6.507000	0.73717	2.882000	0.98803	0.655000	0.94253	GAA	.	.	none		0.463	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			T	12215729	C	T	12215729	3	4	39	1	0	0	0	0	1	0	0	0	10742	893	31	1	306	1	NUDT5	10	12215729	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		12215729	123319018	66	24093										
C10orf71	118461	hgsc.bcm.edu	37	chr10	50534484	50534486	+	In_Frame_Del	DEL	CTT	CTT	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctccaggtgaaaatcaagacCttctatgacccagagacggg							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr10:50534484_50534486delCTT	ENST00000374144.3	+	3	4182_4184	c.3894_3896delCTT	c.(3892-3897)accttc>acc	p.F1299del	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1299										endometrium(1)	1						AAATCAAGACCTTCTATGACCCA	0.64																																					p.1298_1299del		Pindel,Atlas-Indel	.											.	C10orf71	179	.	0			c.3893_3895del						PASS	.																																			SO:0001651	inframe_deletion	118461	exon3			.	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3894_3896delCTT	10.37:g.50534484_50534486delCTT	ENSP00000363259:p.Phe1299del	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	19	19	1	NM_001135196	A0AVL8	In_Frame_Del	DEL	ENST00000374144.3	37	CCDS44387.1																																																																																			.	.	none		0.64	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		-	50534486	CTT	-	50534484	7	5	39	1	0	1	0	1	0	0	0	0	1614	668	24	0	3896	0	C10orf71	10	50534484	In_Frame_Del	DEL	CTT	TCGA-RQ-A6JB-01A-11D-A31X-10	38318755	50534484	85000263	67	24094										
ZWINT	11130	hgsc.bcm.edu	37	chr10	58120984	58120984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctgcagcttccgcctctgtcTccgctgcctccatctttcca	6	19	3	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr10:58120984T>C	ENST00000373944.3	-	1	52	c.14A>G	c.(13-15)gAg>gGg	p.E5G	ZWINT_ENST00000361148.6_Missense_Mutation_p.E5G|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000395405.1_Missense_Mutation_p.E5G|ZWINT_ENST00000318387.2_5'Flank			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	5					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CGCCTCTGTCTCCGCTGCCTC	0.587																																					p.E5G		Atlas-SNP	.											.	ZWINT	39	.	0			c.A14G						PASS	.						37	35	36					10																	58120984		2203	4300	6503	SO:0001583	missense	11130	exon1			TCTGTCTCCGCTG	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.14A>G	10.37:g.58120984T>C	ENSP00000363055:p.Glu5Gly	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	27	16	0.592593	NM_007057	A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737651	0.30774	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000373940;ENST00000361148	T;T;T	0.38401	1.14;1.14;1.17	4.03	-2.36	0.06663	.	0.931407	0.08897	N	0.877771	T	0.25754	0.0627	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.27123	-1.0083	10	0.38643	T	0.18	0.0641	5.5396	0.17031	0.0:0.4279:0.1986:0.3735	.	5;5	A6NNV6;O95229	.;ZWINT_HUMAN	G	5	ENSP00000363055:E5G;ENSP00000378801:E5G;ENSP00000354921:E5G	ENSP00000354921:E5G	E	-	2	0	ZWINT	57790990	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.057000	0.14279	-0.452000	0.07087	-0.256000	0.11100	GAG	.	.	none		0.587	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			C	58120984	T	C	58120984	3	2	39	1	0	0	0	0	1	0	0	0	18246	1551	54	3	851	3	ZWINT	10	58120984	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	7586500	58120984	77413763	68	24095										
CYP2C8	1558	hgsc.bcm.edu	37	chr10	96802724	96802724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ggtggggacaaggtcactgtAtctctggatctcgtgcacta	13	9	3	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr10:96802724A>G	ENST00000371270.3	-	7	1166	c.1072T>C	c.(1072-1074)Tac>Cac	p.Y358H	CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y272H|CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y256H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	358					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AGGTCACTGTATCTCTGGATC	0.498																																					p.Y358H		Atlas-SNP	.											.	CYP2C8	73	.	0			c.T1072C						PASS	.						273	218	236					10																	96802724		2203	4300	6503	SO:0001583	missense	1558	exon7			CACTGTATCTCTG	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1072T>C	10.37:g.96802724A>G	ENSP00000360317:p.Tyr358His	Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	133	49	0.368421	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531632	0.27387	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.69806	-0.43;-0.43;-0.43	4.49	3.32	0.38043	.	0.348041	0.24856	U	0.035053	T	0.58352	0.2116	L	0.31845	0.965	0.25918	N	0.983155	B;P;P;B	0.45594	0.426;0.862;0.554;0.303	B;P;P;B	0.46237	0.282;0.508;0.462;0.329	T	0.53330	-0.8454	10	0.72032	D	0.01	.	8.5378	0.33373	0.8271:0.0:0.0:0.1729	.	272;256;326;358	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	H	358;325;256;272	ENSP00000360317:Y358H;ENSP00000445062:Y256H;ENSP00000442343:Y272H	ENSP00000360317:Y358H	Y	-	1	0	CYP2C8	96792714	1.000000	0.71417	0.923000	0.36655	0.130000	0.20726	4.231000	0.58639	0.725000	0.32318	0.477000	0.44152	TAC	.	.	none		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		G	96802724	A	G	96802724	3	3	39	1	0	0	0	0	1	0	0	0	4167	449	16	2	412	2	CYP2C8	10	96802724	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	38681740	96802724	38732023	69	24096										
FRG2B	441581	hgsc.bcm.edu	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	accaagctttttcgaattgaCggtgtttggactcctagggc	11	9	0	1	rs200793608		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCGAATTGACGGTGTTTGGA	0.552																																					p.P169P		Atlas-SNP	.											FRG2B,colon,carcinoma,-1,1	FRG2B	47	1	0			c.G507A						scavenged	.						126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581	exon4			AATTGACGGTGTT	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T		Somatic	317	3	0.00946372		WXS	Illumina HiSeq	Phase_I	310	6	0.0193548	NM_001080998	Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																			C|0.996;T|0.004	0.004	weak		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	39	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	38636209	135438933	95814	70	24097										
MUC6	4588	hgsc.bcm.edu	37	chr11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	19	4	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																					p.P2011S		Atlas-SNP	.											MUC6_ENST00000421673,extremity,malignant_melanoma,0,1	MUC6	408	1	1	Substitution - Missense(1)	skin(1)	c.C6031T						scavenged	.																																			SO:0001583	missense	4588	exon31			AGAAAGGTGGAAC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic	562	8	0.0142349		WXS	Illumina HiSeq	Phase_I	534	14	0.0262172	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT	.	.	none		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	39	1	0	0	0	0	1	0	0	0	9980	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		1016770	133989746	71	24098										
MUC2	4583	hgsc.bcm.edu	37	chr11	1092890	1092890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caccaccaccaccacggtgaCcccaaccccaacacccaccg	4	24	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:1092890C>T	ENST00000441003.2	+	30	4736	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1571I	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)	ACCACGGTGaccccaacccca	0.637																																					p.T1570I		Atlas-SNP	.											MUC2_ENST00000441003,NS,carcinoma,-1,2	MUC2	614	2	0			c.C4709T						scavenged	.						119	156	143					11																	1092890		1961	3652	5613	SO:0001583	missense	4583	exon30			CGGTGACCCCAAC	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.4709C>T	11.37:g.1092890C>T	ENSP00000415183:p.Thr1570Ile	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	77	3	0.038961	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536608	0.04082	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15487	2.42;3.24	1.3	-2.33	0.06724	.	0.589600	0.12692	U	0.447130	T	0.07548	0.0190	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.21546	0.035	T	0.24799	-1.0150	9	0.38643	T	0.18	.	4.395	0.11358	0.3284:0.4793:0.1923:0.0	.	1570	E7EUV1	.	I	1570;1571	ENSP00000415183:T1570I;ENSP00000351956:T1571I	ENSP00000351956:T1571I	T	+	2	0	MUC2	1082890	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.404000	0.20999	-0.107000	0.12088	0.064000	0.15345	ACC	.	.	none		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092890	C	T	1092890	3	4	39	1	0	0	0	0	1	0	0	0	9975	507	18	2	4827	2	MUC2	11	1092890	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	76120	1092890	133913626	72	24099										
CTSD	1509	hgsc.bcm.edu	37	chr11	1780809	1780809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caggttggaggagcccgtgtCgaagacgactgtgaagcact	15	9	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:1780809C>T	ENST00000236671.2	-	3	421	c.289G>A	c.(289-291)Gac>Aac	p.D97N	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	97					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAGCCCGTGTCGAAGACGACT	0.657																																					p.D97N		Atlas-SNP	.											.	CTSD	26	.	0			c.G289A						PASS	.						65	63	64					11																	1780809		2202	4299	6501	SO:0001583	missense	1509	exon3			CCGTGTCGAAGAC	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.289G>A	11.37:g.1780809C>T	ENSP00000236671:p.Asp97Asn	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	23	7	0.304348	NM_001909	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.994971	0.93167	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	D;T;D	0.84944	-1.92;-1.39;-1.83	4.2	4.2	0.49525	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.052549	0.64402	D	0.000001	D	0.96027	0.8706	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98537	1.0630	10	0.87932	D	0	.	16.9432	0.86224	0.0:1.0:0.0:0.0	.	97	P07339	CATD_HUMAN	N	97;82;62	ENSP00000236671:D97N;ENSP00000415036:D82N;ENSP00000356164:D62N	ENSP00000236671:D97N	D	-	1	0	CTSD	1737385	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.980000	0.76160	2.061000	0.61500	0.486000	0.48141	GAC	.	.	none		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		T	1780809	C	T	1780809	3	4	39	1	0	0	0	0	1	0	0	0	4032	884	31	1	977	1	CTSD	11	1780809	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	687919	1780809	133225707	73	24100										
SPRYD5	84767	hgsc.bcm.edu	37	chr11	55655597	55655597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gaagagcaacatcacttggaAaggctgcgaaaggagggcga	15	7	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:55655597A>G	ENST00000449290.2	+	4	689	c.597A>G	c.(595-597)gaA>gaG	p.E199E	TRIM51_ENST00000244891.3_Silent_p.E56E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCACTTGGAAAGGCTGCGAA	0.433																																					p.E199E		Atlas-SNP	.											SPRYD5_ENST00000327733,NS,carcinoma,+2,2	.	.	2	0			c.A597G						scavenged	.						61	58	59					11																	55655597		2201	4296	6497	SO:0001819	synonymous_variant	84767	exon4			CTTGGAAAGGCTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.597A>G	11.37:g.55655597A>G		Somatic	557	20	0.0359066		WXS	Illumina HiSeq	Phase_I	514	30	0.0583658	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.	.	none		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55655597	A	G	55655597	2	3	39	1	0	0	0	0	0	0	0	1	15110	11	1	2		2	SPRYD5	11	55655597	Silent	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	53874788	55655597	79350919	74	24101										
OR1S2	219958	hgsc.bcm.edu	37	chr11	57971190	57971190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	acgagatgactgtgagcaaaGtgccgaacctggcccgcatg	13	11	0	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																					p.T155I		Atlas-SNP	.											OR1S2,trunk,malignant_melanoma,0,1	OR1S2	119	1	1	Substitution - Missense(1)	skin(1)	c.C464T						scavenged	.						183	172	176					11																	57971190		2201	4296	6497	SO:0001583	missense	219958	exon1			AGCAAAGTGCCGA	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	157	3	0.0191083	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT	.	.	none		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971190	G	A	57971190	3	1	39	1	0	0	0	0	1	0	0	0	10973	1029	36	2	516	2	OR1S2	11	57971190	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	2315593	57971190	77035326	75	24102										
APOA1	335	hgsc.bcm.edu	37	chr11	116707093	116707093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcgcagcttgctgaaggtggAggtcacgctgtcccagttgt	15	10	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:116707093A>G	ENST00000236850.4	-	4	600	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	APOA1_ENST00000375323.1_Missense_Mutation_p.S79P|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Missense_Mutation_p.S79P|APOA1_ENST00000375329.2_Missense_Mutation_p.S57P|APOA1_ENST00000375320.1_Missense_Mutation_p.S79P	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	79	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTGAAGGTGGAGGTCACGCTG	0.612																																					p.S79P		Atlas-SNP	.											.	APOA1	19	.	0			c.T235C						PASS	.						50	48	48					11																	116707093		2201	4292	6493	SO:0001583	missense	335	exon4			AGGTGGAGGTCAC	X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"Apolipoproteins"	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.235T>C	11.37:g.116707093A>G	ENSP00000236850:p.Ser79Pro	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	78	32	0.410256	NM_000039	A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378823	0.42207	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.38	-7.41	0.01392	Apolipoprotein/apolipophorin (1);	0.971554	0.08387	N	0.953551	T	0.58878	0.2153	L	0.55743	1.74	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.51301	-0.8723	10	0.45353	T	0.12	-4.2027	1.3102	0.02096	0.4455:0.194:0.0931:0.2674	.	79	P02647	APOA1_HUMAN	P	79;79;57;79;79	ENSP00000364469:S79P;ENSP00000352471:S79P;ENSP00000364478:S57P;ENSP00000364472:S79P;ENSP00000236850:S79P	ENSP00000236850:S79P	S	-	1	0	APOA1	116212303	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.029000	0.03585	-0.810000	0.04375	-0.379000	0.06801	TCC	.	.	none		0.612	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		G	116707093	A	G	116707093	3	3	39	1	0	0	0	0	1	0	0	0	780	304	11	3	572	3	APOA1	11	116707093	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	58735903	116707093	18299423	76	24103										
NTM	50863	hgsc.bcm.edu	37	chr11	132016345	132016345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atgtgtatgacgagggccctTacacctgctcggtgcagaca	12	11	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr11:132016345T>A	ENST00000374786.1	+	2	816	c.337T>A	c.(337-339)Tac>Aac	p.Y113N	NTM_ENST00000374784.1_Missense_Mutation_p.Y113N|NTM_ENST00000425719.2_Missense_Mutation_p.Y113N|NTM_ENST00000374791.3_Missense_Mutation_p.Y113N|NTM_ENST00000427481.2_Missense_Mutation_p.Y104N|NTM_ENST00000539799.1_Missense_Mutation_p.Y113N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	113	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGAGGGCCCTTACACCTGCTC	0.587																																					p.Y113N		Atlas-SNP	.											.	NTM	253	.	0			c.T337A						PASS	.						162	112	129					11																	132016345		2201	4297	6498	SO:0001583	missense	50863	exon2			GGCCCTTACACCT	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.337T>A	11.37:g.132016345T>A	ENSP00000363918:p.Tyr113Asn	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	116	41	0.353448	NM_001144059	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301473	0.81136	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.305913	0.36268	N	0.002692	D	0.90191	0.6934	H	0.96633	3.855	0.52501	D	0.999958	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.997;0.999;1.0	D;D;D;D;D;D	0.85130	0.997;0.993;0.995;0.997;0.982;0.995	D	0.92723	0.6193	10	0.87932	D	0	-20.7387	12.0456	0.53477	0.1289:0.0:0.0:0.8711	.	113;104;113;113;113;113	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	N	113;113;104;104;113;113;113	ENSP00000363923:Y113N;ENSP00000437668:Y113N;ENSP00000448104:Y104N;ENSP00000416320:Y104N;ENSP00000363918:Y113N;ENSP00000396722:Y113N;ENSP00000363916:Y113N	ENSP00000363916:Y113N	Y	+	1	0	NTM	131521555	1.000000	0.71417	0.916000	0.36221	0.950000	0.60333	8.026000	0.88783	2.126000	0.65437	0.533000	0.62120	TAC	.	.	none		0.587	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		A	132016345	T	A	132016345	3	1	39	1	0	0	0	0	1	0	0	0	10699	1754	61	5	429	5	NTM	11	132016345	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	15309252	132016345	2990171	77	24104										
CACNA2D4	93589	hgsc.bcm.edu	37	chr12	1993483	1993483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caatgaggtaagtgaaaactCggacctaacccacaagacac	8	11	0	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:1993483C>T	ENST00000382722.5	-	12	1639	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R426Q|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R426Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R362Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R362Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTGAAAACTCGGACCTAACC	0.478																																					p.R426Q	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.G1277A						PASS	.						78	85	82					12																	1993483		2017	4193	6210	SO:0001583	missense	93589	exon12			AAAACTCGGACCT	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1277G>A	12.37:g.1993483C>T	ENSP00000372169:p.Arg426Gln	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	78	28	0.358974	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206269	0.95033	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09163	3.01	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.90082	3.085	0.80722	D	1	D	0.69078	0.997	P	0.59424	0.857	T	0.50118	-0.8865	10	0.87932	D	0	.	18.4934	0.90855	0.0:1.0:0.0:0.0	.	426	Q7Z3S7	CA2D4_HUMAN	Q	362;426;426	ENSP00000372169:R426Q	ENSP00000280663:R426Q	R	-	2	0	CACNA2D4	1863744	1.000000	0.71417	0.834000	0.33040	0.831000	0.47069	7.780000	0.85658	2.463000	0.83235	0.603000	0.83216	CGA	.	.	none		0.478	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	1993483	C	T	1993483	3	4	39	1	0	0	0	0	1	0	0	0	2551	884	31	1	2244	1	CACNA2D4	12	1993483	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		1993483	131858412	78	24105										
SCNN1A	6337	hgsc.bcm.edu	37	chr12	6471387	6471387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gagtatgtctggtagaagcaGtccgatttgttctggttgca	13	6	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:6471387G>A	ENST00000228916.2	-	4	803	c.705C>T	c.(703-705)gaC>gaT	p.D235D	SCNN1A_ENST00000360168.3_Silent_p.D294D|SCNN1A_ENST00000543768.1_Silent_p.D258D|SCNN1A_ENST00000396966.2_Silent_p.D235D|SCNN1A_ENST00000358945.3_Silent_p.D235D|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	235					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGTAGAAGCAGTCCGATTTGT	0.562																																					p.D294D		Atlas-SNP	.											SCNN1A,NS,adenocarcinoma,-2,1	SCNN1A	54	1	0			c.C882T						PASS	.						158	112	128					12																	6471387		2203	4300	6503	SO:0001819	synonymous_variant	6337	exon3			GAAGCAGTCCGAT	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.705C>T	12.37:g.6471387G>A		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	97	24	0.247423	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	CCDS8543.1																																																																																			.	.	none		0.562	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			A	6471387	G	A	6471387	2	1	39	1	0	0	0	0	0	0	0	1	13927	1020	36	2		2	SCNN1A	12	6471387	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	4477904	6471387	127380508	79	24106										
TSPAN31	6302	hgsc.bcm.edu	37	chr12	58140844	58140844	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	atgccagatgtgtggagaaaAgtttcttaagcattcagacg	11	6	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:58140844A>C	ENST00000257910.3	+	5	762	c.488A>C	c.(487-489)aAg>aCg	p.K163T	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Missense_Mutation_p.K79T|TSPAN31_ENST00000547472.1_Missense_Mutation_p.K80T|CDK4_ENST00000551888.1_5'Flank	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	163					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGTGGAGAAAAGTTTCTTAAG	0.438																																					p.K163T		Atlas-SNP	.											.	TSPAN31	20	.	0			c.A488C						PASS	.						128	133	131					12																	58140844		2203	4300	6503	SO:0001583	missense	6302	exon5			GAGAAAAGTTTCT		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.488A>C	12.37:g.58140844A>C	ENSP00000257910:p.Lys163Thr	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	164	64	0.390244	NM_005981	O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296104	0.40594	.	.	ENSG00000135452	ENST00000257910;ENST00000547992;ENST00000547472;ENST00000548167	T;T	0.80566	-1.39;-1.39	5.03	2.65	0.31530	.	0.157358	0.53938	N	0.000054	T	0.72326	0.3446	M	0.73962	2.25	0.46028	D	0.99882	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.58244	-0.7670	10	0.13853	T	0.58	-5.5034	3.0344	0.06117	0.6323:0.1468:0.0797:0.1412	.	79;163	F8VS78;Q12999	.;TSN31_HUMAN	T	163;79;80;85	ENSP00000257910:K163T;ENSP00000449199:K80T	ENSP00000257910:K163T	K	+	2	0	TSPAN31	56427111	0.931000	0.31567	0.895000	0.35142	0.995000	0.86356	1.087000	0.30865	0.483000	0.27608	0.459000	0.35465	AAG	.	.	none		0.438	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			C	58140844	A	C	58140844	3	2	39	1	0	0	0	0	1	0	0	0	16643	72	3	5	506	5	TSPAN31	12	58140844	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	51669457	58140844	75711051	80	24107										
RASSF9	9182	hgsc.bcm.edu	37	chr12	86198771	86198771	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctgtatttaatctctttctgGatgccactcaaatgagagtg	8	8	3	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:86198771G>A	ENST00000361228.3	-	2	1385	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	339					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTTTCTGGATGCCACTCA	0.373																																					p.I339I		Atlas-SNP	.											.	RASSF9	100	.	0			c.C1017T						PASS	.						179	182	181					12																	86198771		1854	4089	5943	SO:0001819	synonymous_variant	9182	exon2			TTTCTGGATGCCA		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1017C>T	12.37:g.86198771G>A		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	113	45	0.39823	NM_005447	B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	CCDS44950.1																																																																																			.	.	none		0.373	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			A	86198771	G	A	86198771	2	1	39	1	0	0	0	0	0	0	0	1	13093	1164	41	2		2	RASSF9	12	86198771	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	28057927	86198771	47653124	81	24108										
EPYC	1833	hgsc.bcm.edu	37	chr12	91365657	91365657	+	Frame_Shift_Del	DEL	C	C	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgtcaaagtggttggcaattCtgggagctgccttattttgt							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:91365657delC	ENST00000261172.3	-	5	714	c.622delG	c.(622-624)gaafs	p.E208fs		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	208					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTTGGCAATTCTGGGAGCTGC	0.363																																					p.E208fs		Pindel	.											.	EPYC	35	.	0			c.623delA						PASS	.						99	92	95					12																	91365657		2203	4300	6503	SO:0001589	frameshift_variant	1833	exon5			.	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.622delG	12.37:g.91365657delC	ENSP00000261172:p.Glu208fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	29	29	1	NM_004950	A8K3M7|Q8NEJ5	Frame_Shift_Del	DEL	ENST00000261172.3	37	CCDS31870.1																																																																																			.	.	none		0.363	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		-	91365657	C	-	91365657	7	5	39	1	0	1	0	1	0	0	0	0	5201	922	32	0	358	0	EPYC	12	91365657	Frame_Shift_Del	DEL	C	TCGA-RQ-A6JB-01A-11D-A31X-10	5166886	91365657	42486238	82	24109										
GPN3	51184	hgsc.bcm.edu	37	chr12	110902947	110902947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gttgaagtgttctgctgctgGatccaggtttacaacttgga	12	7	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr12:110902947G>A	ENST00000228827.3	-	2	183	c.121C>T	c.(121-123)Cca>Tca	p.P41S	GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_Missense_Mutation_p.P51S|GPN3_ENST00000543199.1_Missense_Mutation_p.P80S	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TCTGCTGCTGGATCCAGGTTT	0.537																																					p.P80S		Atlas-SNP	.											.	GPN3	37	.	0			c.C238T						PASS	.						197	157	170					12																	110902947		2203	4300	6503	SO:0001583	missense	51184	exon2			CTGCTGGATCCAG	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"GPN-loop GTPases"	30186	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member C"	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.121C>T	12.37:g.110902947G>A	ENSP00000228827:p.Pro41Ser	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	87	37	0.425287	NM_001164372		Missense_Mutation	SNP	ENST00000228827.3	37	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541728	0.96474	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.92738	3.34	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.79108	0.987;0.992	T	0.82172	-0.0589	10	0.87932	D	0	-14.8795	20.3789	0.98926	0.0:0.0:1.0:0.0	.	51;41	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	S	41;80;51;19	ENSP00000228827:P41S;ENSP00000442770:P80S;ENSP00000443068:P51S;ENSP00000447480:P19S	ENSP00000228827:P41S	P	-	1	0	GPN3	109387330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.221000	0.95188	2.826000	0.97356	0.563000	0.77884	CCA	.	.	none		0.537	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		A	110902947	G	A	110902947	3	1	39	1	0	0	0	0	1	0	0	0	6619	1174	41	2	761	2	GPN3	12	110902947	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	19537290	110902947	22948948	83	24110										
TUBA3C	7278	hgsc.bcm.edu	37	chr13	19751301	19751301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gccttctcggctgagatgacCggggcgtaggtggccagggg	19	10	1	2	rs140548354		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAGATGACCGGGGCGTAGG	0.607																																					p.P274P		Atlas-SNP	.											TUBA3C,bladder,carcinoma,-2,1	TUBA3C	166	1	0			c.G822A						scavenged	.						123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			GATGACCGGGGCG	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.822G>A	13.37:g.19751301C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	124	6	0.0483871	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			C|0.999;T|0.001	0.001	weak		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	39	1	0	0	0	0	0	0	0	1	16743	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		19751301	95418577	84	24111										
PARP4	143	hgsc.bcm.edu	37	chr13	25060323	25060323	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	taccgacacaagattcccacGatgttttgtacaggagaacc	8	11	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr13:25060323G>T	ENST00000381989.3	-	11	1440	c.1335C>A	c.(1333-1335)atC>atA	p.I445I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	445	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)	p.I445I(1)		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)		AGATTCCCACGATGTTTTGTA	0.373																																					p.I445I		Atlas-SNP	.											PARP4,rectum,carcinoma,0,1	PARP4	142	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335A						scavenged	.						105	92	97					13																	25060323		2203	4300	6503	SO:0001819	synonymous_variant	143	exon11			TCCCACGATGTTT	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.1335C>A	13.37:g.25060323G>T		Somatic	499	1	0.00200401		WXS	Illumina HiSeq	Phase_I	498	5	0.0100402	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																			.	.	none		0.373	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25060323	G	T	25060323	2	4	39	1	0	0	0	0	0	0	0	1	11463	1048	37	4		4	PARP4	13	25060323	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	5309022	25060323	90109555	85	24112										
STARD13	90627	hgsc.bcm.edu	37	chr13	33684064	33684064	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccatgctgttcagcacatacTggtagatctctgtttgcctg	9	11	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr13:33684064T>A	ENST00000336934.5	-	12	3109	c.2993A>T	c.(2992-2994)cAg>cTg	p.Q998L	STARD13_ENST00000399365.3_Missense_Mutation_p.Q880L|STARD13_ENST00000255486.4_Missense_Mutation_p.Q990L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	998	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAGCACATACTGGTAGATCTC	0.527											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q998L		Atlas-SNP	.											.	STARD13	100	.	0			c.A2993T						PASS	.						233	186	202					13																	33684064		2203	4300	6503	SO:0001583	missense	90627	exon12			ACATACTGGTAGA	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2993A>T	13.37:g.33684064T>A	ENSP00000338785:p.Gln998Leu	Somatic	81	0	0	841	WXS	Illumina HiSeq	Phase_I	81	32	0.395062	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812965	0.70912	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.29397	1.57;1.57;1.57	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.053876	0.85682	D	0.000000	T	0.48677	0.1513	M	0.84683	2.71	0.80722	D	1	B;B;B	0.32653	0.107;0.379;0.215	B;B;B	0.40901	0.11;0.343;0.139	T	0.54070	-0.8348	10	0.87932	D	0	.	16.255	0.82510	0.0:0.0:0.0:1.0	.	963;998;990	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	L	880;990;998	ENSP00000382300:Q880L;ENSP00000255486:Q990L;ENSP00000338785:Q998L	ENSP00000255486:Q990L	Q	-	2	0	STARD13	32582064	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.950000	0.87804	2.240000	0.73641	0.533000	0.62120	CAG	.	.	none		0.527	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33684064	T	A	33684064	3	1	39	1	0	0	0	0	1	0	0	0	15255	1580	55	5	360	5	STARD13	13	33684064	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	8623741	33684064	81485814	86	24113										
RNASE4	6038	hgsc.bcm.edu	37	chr14	21167775	21167775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgaagatatctggaacattcGtagtatctgcagcaccacca	8	10	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr14:21167775G>A	ENST00000555835.1	+	2	921	c.245G>A	c.(244-246)cGt>cAt	p.R82H	RNASE4_ENST00000397995.2_Missense_Mutation_p.R82H|RNASE4_ENST00000304704.4_Missense_Mutation_p.R82H|RNASE4_ENST00000555597.1_Missense_Mutation_p.R82H|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	82					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGAACATTCGTAGTATCTGC	0.463																																					p.R82H	Esophageal Squamous(59;1059 1362 26290 51151)	Atlas-SNP	.											RNASE4,caecum,carcinoma,+1,2	RNASE4	18	2	0			c.G245A						PASS	.						165	134	145					14																	21167775		2203	4300	6503	SO:0001583	missense	6038	exon2			ACATTCGTAGTAT	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"Ribonucleases, RNase A"	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.245G>A	14.37:g.21167775G>A	ENSP00000452245:p.Arg82His	Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	34	8	0.235294	NM_002937		Missense_Mutation	SNP	ENST00000555835.1	37	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021831	0.35701	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.81	-3.72	0.04411	Ribonuclease A, domain (4);	0.988640	0.08242	N	0.975881	T	0.61689	0.2367	L	0.48877	1.53	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52193	-0.8608	10	0.56958	D	0.05	-2.1766	4.7289	0.12955	0.4995:0.0:0.2424:0.2581	.	82	P34096	RNAS4_HUMAN	H	82	ENSP00000452245:R82H;ENSP00000381081:R82H;ENSP00000451624:R82H;ENSP00000381087:R82H;ENSP00000307096:R82H;ENSP00000381085:R82H	ENSP00000307096:R82H	R	+	2	0	AL163636.2;RNASE4	20237615	0.000000	0.05858	0.001000	0.08648	0.915000	0.54546	-0.828000	0.04419	-0.537000	0.06290	-0.899000	0.02877	CGT	.	.	none		0.463	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			A	21167775	G	A	21167775	3	1	39	1	0	0	0	0	1	0	0	0	13406	1145	40	1	247	1	RNASE4	14	21167775	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		21167775	86181765	87	24114										
CIDEB	27141	hgsc.bcm.edu	37	chr14	24775219	24775219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agtagagcccgtagaatgtgGctttgacattcaggctgcca	12	9	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr14:24775219G>A	ENST00000336557.5	-	7	1763	c.461C>T	c.(460-462)gCc>gTc	p.A154V	NOP9_ENST00000267425.3_3'UTR|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000554411.1_Missense_Mutation_p.A154V|CIDEB_ENST00000258807.5_Missense_Mutation_p.A154V			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	154					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTAGAATGTGGCTTTGACATT	0.512																																					p.A154V		Atlas-SNP	.											.	CIDEB	17	.	0			c.C461T						PASS	.						160	146	151					14																	24775219		2203	4300	6503	SO:0001583	missense	27141	exon6			AATGTGGCTTTGA	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.461C>T	14.37:g.24775219G>A	ENSP00000337731:p.Ala154Val	Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	65	23	0.353846	NM_014430	D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	ENST00000336557.5	37	CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325029	0.95708	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	D;D;D	0.84516	-1.86;-1.86;-1.86	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93644	0.6967	10	0.87932	D	0	-23.741	17.4084	0.87480	0.0:0.0:1.0:0.0	.	154	Q9UHD4	CIDEB_HUMAN	V	154	ENSP00000451089:A154V;ENSP00000337731:A154V;ENSP00000258807:A154V	ENSP00000258807:A154V	A	-	2	0	CIDEB	23845059	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.787000	0.75099	2.654000	0.90174	0.563000	0.77884	GCC	.	.	none		0.512	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			A	24775219	G	A	24775219	3	1	39	1	0	0	0	0	1	0	0	0	3426	1203	42	2	206	2	CIDEB	14	24775219	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	3607444	24775219	82574321	88	24115										
CGRRF1	10668	hgsc.bcm.edu	37	chr14	54997723	54997723	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tctcgctatccattggtagcGctattgaccttagctgatga	9	10	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr14:54997723G>T	ENST00000216420.7	+	4	657	c.525G>T	c.(523-525)gcG>gcT	p.A175A	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	175					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						CATTGGTAGCGCTATTGACCT	0.348																																					p.A175A		Atlas-SNP	.											CGRRF1,caecum,carcinoma,0,2	CGRRF1	30	2	0			c.G525T						scavenged	.						72	70	70					14																	54997723		2203	4300	6503	SO:0001819	synonymous_variant	10668	exon4			GGTAGCGCTATTG	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.525G>T	14.37:g.54997723G>T		Somatic	318	0	0		WXS	Illumina HiSeq	Phase_I	292	3	0.010274	NM_006568	Q96BX2	Silent	SNP	ENST00000216420.7	37	CCDS9719.1																																																																																			.	.	none		0.348	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		T	54997723	G	T	54997723	2	4	39	1	0	0	0	0	0	0	0	1	3306	1074	38	4		4	CGRRF1	14	54997723	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	30222504	54997723	52351817	89	24116										
CHP	11261	hgsc.bcm.edu	37	chr15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctcgggcctccacgttactgCgggacgaagagctcgaggag	15	12	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CHP1_ENST00000558351.1_Intron|EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|EXD1_ENST00000458580.2_5'Flank|EXD1_ENST00000314992.5_5'Flank	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677																																					p.R10W		Atlas-SNP	.											CHP,NS,carcinoma,0,1	.	.	1	1	Substitution - Missense(1)	prostate(1)	c.C28T						scavenged	.						35	24	28					15																	41523608		2198	4300	6498	SO:0001583	missense	11261	exon1			TTACTGCGGGACG		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.28C>T	15.37:g.41523608C>T	ENSP00000335632:p.Arg10Trp	Somatic	119	0	0		WXS	Illumina HiSeq	Phase_I	100	3	0.03	NM_007236	B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745030	0.89663	.	.	ENSG00000187446	ENST00000334660;ENST00000392151	T;T	0.68479	-0.33;-0.33	5.79	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.87758	2.905	0.80722	D	1	D	0.56521	0.976	P	0.50659	0.647	T	0.81673	-0.0826	10	0.72032	D	0.01	-10.8135	14.3342	0.66578	0.6356:0.3644:0.0:0.0	.	10	Q99653	CHP1_HUMAN	W	10	ENSP00000335632:R10W;ENSP00000440490:R10W	ENSP00000335632:R10W	R	+	1	2	AC012652.1	39310900	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.024000	0.13555	0.334000	0.23590	-0.277000	0.10078	CGG	.	.	none		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		T	41523608	C	T	41523608	3	4	39	1	0	0	0	0	1	0	0	0	3366	759	27	1	30	1	CHP	15	41523608	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		41523608	61007784	90	24117										
CTDSPL2	51496	hgsc.bcm.edu	37	chr15	44791936	44791937	+	Frame_Shift_Ins	INS	-	-	GT													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	attttaaggatgaaacactaINSgtgcattgtagtctaaatga							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr15:44791936_44791937insGT	ENST00000260327.4	+	8	1457_1458	c.894_895insGT	c.(895-897)gtgfs	p.V299fs	CTDSPL2_ENST00000558966.1_Frame_Shift_Ins_p.V299fs|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Frame_Shift_Ins_p.V227fs|CTDSPL2_ENST00000558373.1_Frame_Shift_Ins_p.V227fs	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	299	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ATGAAACACTAGTGCATTGTAG	0.287																																					p.L298fs		Pindel	.											.	CTDSPL2	31	.	0			c.894_895insGT						PASS	.																																			SO:0001589	frameshift_variant	51496	exon8			.	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.895_896dupGT	15.37:g.44791937_44791938dupGT	ENSP00000260327:p.Val299fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	32	32	1	NM_016396	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Frame_Shift_Ins	INS	ENST00000260327.4	37	CCDS10110.1																																																																																			.	.	none		0.287	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		GT	44791937	-	GT	44791936	7	5	39	1	0	1	1	0	0	0	0	0	4006	407	15	0	920	0	CTDSPL2	15	44791936	Frame_Shift_Ins	INS	-	TCGA-RQ-A6JB-01A-11D-A31X-10	3268328	44791936	57739456	91	24118										
B2M	567	hgsc.bcm.edu	37	chr15	45007714	45007714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtctgggtttcatccatccgAcattgaagttgacttactga	9	9	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr15:45007714A>T	ENST00000558401.1	+	2	231	c.161A>T	c.(160-162)gAc>gTc	p.D54V	B2M_ENST00000544417.1_Missense_Mutation_p.D54V|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.D54V	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	54	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CATCCATCCGACATTGAAGTT	0.413																																					p.D54V		Atlas-SNP	.											B2M,bladder,carcinoma,+1,1	B2M	99	1	0			c.A161T						scavenged	.						183	188	186					15																	45007714		2198	4298	6496	SO:0001583	missense	567	exon2			CATCCGACATTGA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.161A>T	15.37:g.45007714A>T	ENSP00000452780:p.Asp54Val	Somatic	106	1	0.00943396		WXS	Illumina HiSeq	Phase_I	67	35	0.522388	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124893	0.77436	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03212	4.01	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.936939	0.09208	N	0.833609	T	0.08891	0.0220	N	0.20328	0.56	0.20307	N	0.999913	P;P;P	0.50369	0.821;0.781;0.934	P;P;P	0.58331	0.6;0.721;0.837	T	0.49234	-0.8961	10	0.87932	D	0	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	54;54;54	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	V	54	ENSP00000437604:D54V	ENSP00000340858:D54V	D	+	2	0	B2M	42795006	0.302000	0.24454	0.009000	0.14445	0.002000	0.02628	5.095000	0.64529	2.308000	0.77769	0.533000	0.62120	GAC	.	.	none		0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		T	45007714	A	T	45007714	3	4	39	1	0	0	0	0	1	0	0	0	1244	275	10	5	167	5	B2M	15	45007714	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	215778	45007714	57523678	92	24119										
B2M	567	hgsc.bcm.edu	37	chr15	45007809	45007809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	actggtctttctatctcttgTactacactgaattcaccccc	4	14	4	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr15:45007809T>G	ENST00000558401.1	+	2	326	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	B2M_ENST00000544417.1_Missense_Mutation_p.Y86D|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.Y86D	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	86	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.Y86N(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CTATCTCTTGTACTACACTGA	0.423																																					p.Y86D		Atlas-SNP	.											B2M,NS,lymphoid_neoplasm,-2,2	B2M	99	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.T256G						scavenged	.						172	169	170					15																	45007809		2198	4298	6496	SO:0001583	missense	567	exon2			CTCTTGTACTACA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.256T>G	15.37:g.45007809T>G	ENSP00000452780:p.Tyr86Asp	Somatic	147	1	0.00680272		WXS	Illumina HiSeq	Phase_I	98	56	0.571429	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880536	0.51801	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.02709	4.19	6.03	0.942	0.19525	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.726338	0.14242	N	0.332034	T	0.02970	0.0088	N	0.08118	0	0.09310	N	0.999997	P;P	0.51537	0.946;0.57	P;P	0.56042	0.79;0.708	T	0.45920	-0.9228	10	0.59425	D	0.04	.	4.1475	0.10222	0.222:0.0:0.486:0.292	.	86;86	F5H6I0;P61769	.;B2MG_HUMAN	D	86	ENSP00000437604:Y86D	ENSP00000340858:Y86D	Y	+	1	0	B2M	42795101	0.992000	0.36948	0.077000	0.20336	0.001000	0.01503	2.183000	0.42565	-0.061000	0.13110	-1.392000	0.01152	TAC	.	.	none		0.423	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		G	45007809	T	G	45007809	3	3	39	1	0	0	0	0	1	0	0	0	1244	1638	57	5	262	5	B2M	15	45007809	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	95	45007809	57523583	93	24120										
RASL12	51285	hgsc.bcm.edu	37	chr15	65347441	65347441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tggggcagggccctctcctcGgagatgaagaggggccgggt	19	10	1	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr15:65347441G>A	ENST00000220062.4	-	5	873	c.597C>T	c.(595-597)tcC>tcT	p.S199S	RASL12_ENST00000421977.3_Silent_p.S180S|RASL12_ENST00000434605.2_Silent_p.S188S	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	199					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCCTCTCCTCGGAGATGAAGA	0.662																																					p.S199S		Atlas-SNP	.											.	RASL12	32	.	0			c.C597T						PASS	.						15	16	16					15																	65347441		2200	4298	6498	SO:0001819	synonymous_variant	51285	exon5			CTCCTCGGAGATG	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.597C>T	15.37:g.65347441G>A		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	49	16	0.326531	NM_016563	B2RC29|B4DJW2|B4DU82	Silent	SNP	ENST00000220062.4	37	CCDS10200.1																																																																																			.	.	none		0.662	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		A	65347441	G	A	65347441	2	1	39	1	0	0	0	0	0	0	0	1	13083	1103	39	1		1	RASL12	15	65347441	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	20339632	65347441	37183951	94	24121										
CREBBP	1387	hgsc.bcm.edu	37	chr16	3779057	3779057	+	Frame_Shift_Del	DEL	G	G	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cggggcacattcaggctcacGggggccatctggctccccgg					rs201101808	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr16:3779057delG	ENST00000262367.5	-	31	6800	c.5991delC	c.(5989-5991)cccfs	p.P1997fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P1959fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1997					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCAGGCTCACGGGGGCCATCT	0.697			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.V1998X		Pindel	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.5992delG						PASS	.						14	15	15					16																	3779057		2181	4290	6471	SO:0001589	frameshift_variant	1387	exon31			.	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5991delC	16.37:g.3779057delG	ENSP00000262367:p.Pro1997fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	19	19	1	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																			.	.	none		0.697	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		-	3779057	G	-	3779057	7	5	39	1	0	1	0	1	0	0	0	0	3861	1103	39	0	1341	0	CREBBP	16	3779057	Frame_Shift_Del	DEL	G	TCGA-RQ-A6JB-01A-11D-A31X-10		3779057	86575696	95	24122										
IQCK	124152	hgsc.bcm.edu	37	chr16	19800169	19800169	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttgcttttcagcccacggccGccaatcccactctcgctcct	6	19	2	0	rs143956012	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr16:19800169G>T	ENST00000320394.6	+	8	1314	c.615G>T	c.(613-615)ccG>ccT	p.P205P	IQCK_ENST00000564186.1_Silent_p.P205P|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000433597.2_Silent_p.P117P|IQCK_ENST00000541926.1_Intron	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	205										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCCCACGGCCGCCAATCCCAC	0.478																																					p.P205P		Atlas-SNP	.											IQCK,colon,carcinoma,0,1	IQCK	35	1	0			c.G615T						scavenged	.						111	111	111					16																	19800169		2197	4300	6497	SO:0001819	synonymous_variant	124152	exon8			ACGGCCGCCAATC	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.615G>T	16.37:g.19800169G>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	92	3	0.0326087	NM_153208	B2RDU0|O43327|Q8NFF4	Silent	SNP	ENST00000320394.6	37	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277519	0.40294	.	.	ENSG00000174628	ENST00000308214	T	0.24723	1.84	5.76	-10.7	0.00240	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.38554	D	0.94954	.	.	.	.	.	.	T	0.40496	-0.9560	5	.	.	.	-7.6728	5.8052	0.18436	0.4635:0.0:0.2779:0.2586	.	.	.	.	S	162	ENSP00000309261:A162S	.	A	+	1	0	IQCK	19707670	0.000000	0.05858	0.121000	0.21740	0.966000	0.64601	-2.048000	0.01406	-1.573000	0.01659	-0.290000	0.09829	GCC	G|0.999;A|0.001	.	alt		0.478	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		T	19800169	G	T	19800169	2	4	39	1	0	0	0	0	0	0	0	1	7813	1074	38	4		4	IQCK	16	19800169	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	16021112	19800169	70554584	96	24123										
HYDIN	54768	hgsc.bcm.edu	37	chr16	70989411	70989411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tcgatgctcaggcaggctgcGttgtagtacttggccacgct	13	11	1	0	rs375756894	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr16:70989411G>A	ENST00000393567.2	-	40	6333	c.6183C>T	c.(6181-6183)aaC>aaT	p.N2061N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2061					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCAGGCTGCGTTGTAGTACT	0.552													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19316	0.0		0.001	False		,,,				2504	0.0				p.N2061N		Atlas-SNP	.											.	HYDIN	788	.	0			c.C6183T						PASS	.	G		2,3706		0,2,1852	24	22	23		6180	-8	0	16		23	2,8124		0,2,4061	no	coding-synonymous	HYDIN	NM_032821.2		0,4,5913	AA,AG,GG		0.0246,0.0539,0.0338		2060/5121	70989411	4,11830	1854	4063	5917	SO:0001819	synonymous_variant	54768	exon40			GGCTGCGTTGTAG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6183C>T	16.37:g.70989411G>A		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	12	0.307692	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																			.	.	weak		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70989411	G	A	70989411	2	1	39	1	0	0	0	0	0	0	0	1	7467	1136	40	1		1	HYDIN	16	70989411	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	51189242	70989411	19365342	97	24124										
AP1G1	164	hgsc.bcm.edu	37	chr16	71808467	71808468	+	Frame_Shift_Ins	INS	-	-	G													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcgtttgtctgtaaatttttINSgagaggcaataagcttgagg							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr16:71808467_71808468insG	ENST00000299980.4	-	3	670_671	c.229_230insC	c.(229-231)caafs	p.Q77fs	AP1G1_ENST00000393512.3_Frame_Shift_Ins_p.Q77fs|AP1G1_ENST00000433195.2_Frame_Shift_Ins_p.Q100fs|AP1G1_ENST00000423132.2_Frame_Shift_Ins_p.Q77fs|AP1G1_ENST00000569748.1_Frame_Shift_Ins_p.Q77fs	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	77					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGTAAATTTTTGAGAGGCAATA	0.356																																					p.Q77fs		Pindel	.											.	AP1G1	83	.	0			c.230_231insC						PASS	.																																			SO:0001589	frameshift_variant	164	exon3			.	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.230dupC	16.37:g.71808468_71808468dupG	ENSP00000299980:p.Gln77fs	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	58	58	1	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Frame_Shift_Ins	INS	ENST00000299980.4	37	CCDS32480.1																																																																																			.	.	none		0.356	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			G	71808468	-	G	71808467	7	5	39	1	0	1	1	0	0	0	0	0	732	1812	63	0	2335	0	AP1G1	16	71808467	Frame_Shift_Ins	INS	-	TCGA-RQ-A6JB-01A-11D-A31X-10	819056	71808467	18546286	98	24125										
IRF8	3394	hgsc.bcm.edu	37	chr16	85936784	85936784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ataatcaggaagtggatgccTccatttttaaggtaaagagc	10	6	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr16:85936784T>G	ENST00000268638.5	+	2	585	c.163T>G	c.(163-165)Tcc>Gcc	p.S55A	IRF8_ENST00000563180.1_Missense_Mutation_p.S55A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	55					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.S55A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTGGATGCCTCCATTTTTAA	0.483																																					p.S55A		Atlas-SNP	.											IRF8,lymph_node,lymphoid_neoplasm,0,1	IRF8	65	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.T163G						PASS	.						74	70	71					16																	85936784		2198	4300	6498	SO:0001583	missense	3394	exon2			GATGCCTCCATTT	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.163T>G	16.37:g.85936784T>G	ENSP00000268638:p.Ser55Ala	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	88	69	0.784091	NM_002163	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	T	4.129	0.022168	0.08006	.	.	ENSG00000140968	ENST00000268638	D	0.97598	-4.45	5.58	5.58	0.84498	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.112568	0.64402	D	0.000006	D	0.89378	0.6698	N	0.00738	-1.235	0.80722	D	1	B;B	0.30973	0.302;0.041	B;B	0.43728	0.429;0.023	D	0.87510	0.2439	10	0.02654	T	1	-37.9646	11.4255	0.50007	0.0:0.0:0.1508:0.8491	.	55;55	B2R8V7;Q02556	.;IRF8_HUMAN	A	55	ENSP00000268638:S55A	ENSP00000268638:S55A	S	+	1	0	IRF8	84494285	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	3.823000	0.55715	2.122000	0.65172	0.454000	0.30748	TCC	.	.	none		0.483	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		G	85936784	T	G	85936784	3	3	39	1	0	0	0	0	1	0	0	0	7836	1551	54	5	165	5	IRF8	16	85936784	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	14128317	85936784	4417969	99	24126										
MYH13	8735	hgsc.bcm.edu	37	chr17	10236473	10236473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ctcgaggaccccgttacagcGcagctggtgcatgaccaagt	12	13	0	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr17:10236473G>A	ENST00000418404.3	-	18	2255	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R698C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	698	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGTTACAGCGCAGCTGGTGC	0.577																																					p.R698C		Atlas-SNP	.											MYH13_ENST00000252172,NS,carcinoma,0,2	MYH13	533	2	0			c.C2092T						scavenged	.						28	33	31					17																	10236473		1927	3907	5834	SO:0001583	missense	8735	exon19			TACAGCGCAGCTG	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2092C>T	17.37:g.10236473G>A	ENSP00000404570:p.Arg698Cys	Somatic	50	3	0.06		WXS	Illumina HiSeq	Phase_I	53	20	0.377358	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157304	0.78114	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.88896	-2.44	4.21	4.21	0.49690	Myosin head, motor domain (2);	.	.	.	.	D	0.96953	0.9005	H	0.99357	4.53	0.53688	D	0.999977	D	0.69078	0.997	D	0.70935	0.971	D	0.99016	1.0816	9	0.87932	D	0	.	17.1181	0.86694	0.0:0.0:1.0:0.0	.	698	Q9UKX3	MYH13_HUMAN	C	698;373	ENSP00000252172:R698C	ENSP00000252172:R698C	R	-	1	0	MYH13	10177198	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.219000	0.32479	2.333000	0.79357	0.561000	0.74099	CGC	.	.	none		0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10236473	G	A	10236473	3	1	39	1	0	0	0	0	1	0	0	0	10032	1087	38	1	3816	1	MYH13	17	10236473	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		10236473	70958737	100	24127										
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305774	39305775	+	In_Frame_Ins	INS	-	-	TGGCAGCAGCTGGGG													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tggtcctgcagcaggtggtcINStggcagcagcaggggcggca					rs137947981|rs535144703|rs141265645|rs58117746	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr17:39305774_39305775insTGGCAGCAGCTGGGG	ENST00000343246.4	-	1	279_280	c.245_246insCCCCAGCTGCTGCCA	c.(244-246)cag>caCCCCAGCTGCTGCCAg	p.81_82insHPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagca	0.653																																					p.Q82delinsHPSCCQ		Atlas-Indel	.											KRTAP4-5,NS,carcinoma,0,1	KRTAP4-5	34	1	1	Substitution - Missense(1)	lung(1)	c.246_247insCCCCAGCTGCTGCCA						PASS	.																																			SO:0001652	inframe_insertion	85289	exon1			.	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245_246insCCCCAGCTGCTGCCA	17.37:g.39305774_39305775insTGGCAGCAGCTGGGG	ENSP00000340546:p.Cys81_Gln82insHisProSerCysCys	Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	45	25	0.555556	NM_033188		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.	.	none		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			TGGCAGCAGCTGGGG	39305775	-	TGGCAGCAGCTGGGG	39305774	7	5	39	1	0	1	1	0	0	0	0	0	8554	912	32	0	303	0	KRTAP4-5	17	39305774	In_Frame_Ins	INS	-	TCGA-RQ-A6JB-01A-11D-A31X-10	29069301	39305774	41889436	101	24128										
STAT3	6774	hgsc.bcm.edu	37	chr17	40475061	40475063	+	In_Frame_Del	DEL	CTT	CTT	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccaagtgaaagtgacgcctcCttctttgctgctttcactga							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr17:40475061_40475063delCTT	ENST00000264657.5	-	20	2159_2161	c.1847_1849delAAG	c.(1846-1851)gaagga>gga	p.E616del	STAT3_ENST00000389272.3_In_Frame_Del_p.E518del|STAT3_ENST00000588969.1_In_Frame_Del_p.E616del|STAT3_ENST00000404395.3_In_Frame_Del_p.E616del|STAT3_ENST00000585517.1_In_Frame_Del_p.E616del	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	616	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GTGACGCCTCCTTCTTTGCTGCT	0.562									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.616_617del		Pindel,Atlas-Indel	.											.	STAT3	268	.	0			c.1848_1850del						PASS	.																																			SO:0001651	inframe_deletion	6774	exon20	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	.	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1847_1849delAAG	17.37:g.40475064_40475066delCTT	ENSP00000264657:p.Glu616del	Somatic	0	.	.	893	WXS	Illumina HiSeq	Phase_I	16	16	1	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	In_Frame_Del	DEL	ENST00000264657.5	37	CCDS32656.1																																																																																			.	.	none		0.562	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		-	40475063	CTT	-	40475061	7	5	39	1	0	1	0	1	0	0	0	0	15265	690	24	0	483	0	STAT3	17	40475061	In_Frame_Del	DEL	CTT	TCGA-RQ-A6JB-01A-11D-A31X-10	1169287	40475061	40720149	102	24129										
CDC27	996	hgsc.bcm.edu	37	chr17	45214527	45214527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttaccacttaccatgcattaTaatgtctaggattgactctg	6	9	2	1	rs62075618|rs200720095	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr17:45214527T>C	ENST00000066544.3	-	14	1997	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	CDC27_ENST00000531206.1_Missense_Mutation_p.Y641C|CDC27_ENST00000446365.2_Missense_Mutation_p.Y574C|CDC27_ENST00000527547.1_Missense_Mutation_p.Y634C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	635					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCATTATAATGTCTAGG	0.338																																					p.Y641C		Atlas-SNP	.											CDC27_ENST00000531206,colon,carcinoma,-1,2	CDC27	337	2	0			c.A1922G						scavenged	.						35	35	35					17																	45214527		2203	4300	6503	SO:0001583	missense	996	exon14			GCATTATAATGTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1904A>G	17.37:g.45214527T>C	ENSP00000066544:p.Tyr635Cys	Somatic	20	2	0.1		WXS	Illumina HiSeq	Phase_I	30	5	0.166667	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004463	0.93287	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	H	0.96943	3.91	0.09310	P	0.999999999633698	D;D;D;D	0.59357	0.985;0.982;0.982;0.969	P;P;P;P	0.56042	0.79;0.753;0.753;0.727	D	0.88807	0.3289	9	0.87932	D	0	-24.5847	14.4087	0.67101	0.0:0.0:0.0:1.0	rs62075618	574;634;641;635	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	635;641;574;634	ENSP00000066544:Y635C;ENSP00000434614:Y641C;ENSP00000392802:Y574C;ENSP00000437339:Y634C	ENSP00000066544:Y635C	Y	-	2	0	CDC27	42569526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.308000	0.72820	2.293000	0.77203	0.477000	0.44152	TAT	T|0.500;C|0.500	0.500	strong		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45214527	T	C	45214527	3	2	39	1	0	0	0	0	1	0	0	0	3066	1406	49	2	594	2	CDC27	17	45214527	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	4739466	45214527	35980683	103	24130										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76567366	76567366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gggtcacaggctcaccttcaGtgacgttggtgtaaacgttt	12	9	3	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr17:76567366G>A	ENST00000585328.1	-	5	951	c.827C>T	c.(826-828)aCt>aTt	p.T276I	DNAH17_ENST00000389840.5_Missense_Mutation_p.T276I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	276	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCACCTTCAGTGACGTTGGT	0.517																																					p.T276I		Atlas-SNP	.											.	DNAH17	347	.	0			c.C827T						PASS	.						80	82	82					17																	76567366		2151	4244	6395	SO:0001583	missense	8632	exon5			CCTTCAGTGACGT	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.827C>T	17.37:g.76567366G>A	ENSP00000465516:p.Thr276Ile	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	157	64	0.407643	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	10.10	1.258295	0.23051	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57107	0.42	4.31	2.14	0.27477	.	.	.	.	.	T	0.38746	0.1052	N	0.24115	0.695	0.23371	N	0.997811	.	.	.	.	.	.	T	0.21621	-1.0240	7	0.35671	T	0.21	.	6.7434	0.23449	0.0:0.3411:0.4984:0.1605	.	.	.	.	I	276	ENSP00000374490:T276I	ENSP00000300671:T276I	T	-	2	0	DNAH17	74078961	0.326000	0.24669	0.376000	0.26042	0.015000	0.08874	0.724000	0.25954	2.115000	0.64714	0.561000	0.74099	ACT	.	.	none		0.517	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76567366	G	A	76567366	3	1	39	1	0	0	0	0	1	0	0	0	4601	1029	36	2	12869	2	DNAH17	17	76567366	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	31352839	76567366	4627844	104	24131										
CDH2	1000	hgsc.bcm.edu	37	chr18	25583075	25583075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	acgattctgtacctcaacatCccattgagggcattgggatc	9	11	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr18:25583075C>T	ENST00000269141.3	-	7	1329	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CDH2_ENST00000399380.3_Silent_p.G271G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	302	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTCAACATCCCATTGAGGG	0.458																																					p.G302G		Atlas-SNP	.											CDH2,right_upper_lobe,carcinoma,-1,2	CDH2	194	2	0			c.G906A						scavenged	.						235	171	193					18																	25583075		2203	4300	6503	SO:0001819	synonymous_variant	1000	exon7			CAACATCCCATTG	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.906G>A	18.37:g.25583075C>T		Somatic	148	1	0.00675676		WXS	Illumina HiSeq	Phase_I	107	41	0.383178	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	CCDS11891.1																																																																																			.	.	none		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25583075	C	T	25583075	2	4	39	1	0	0	0	0	0	0	0	1	3105	842	30	2		2	CDH2	18	25583075	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		25583075	52494173	105	24132										
APBA3	9546	hgsc.bcm.edu	37	chr19	3751204	3751204	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cacctcgccataggcctcggTgagcagctcgatgatgcggg	14	13	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:3751204T>G	ENST00000316757.3	-	10	1839	c.1639A>C	c.(1639-1641)Acc>Ccc	p.T547P	AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	547	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGCCTCGGTGAGCAGCTCG	0.706																																					p.T547P		Atlas-SNP	.											.	APBA3	28	.	0			c.A1639C						PASS	.						15	14	14					19																	3751204		2142	4234	6376	SO:0001583	missense	9546	exon10			CCTCGGTGAGCAG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1639A>C	19.37:g.3751204T>G	ENSP00000315136:p.Thr547Pro	Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	33	10	0.30303	NM_004886	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801049	0.31869	.	.	ENSG00000011132	ENST00000316757	T	0.28069	1.63	4.68	3.66	0.41972	PDZ/DHR/GLGF (4);	0.126503	0.52532	D	0.000076	T	0.45558	0.1348	M	0.64997	1.995	0.47009	D	0.999282	D	0.76494	0.999	D	0.69824	0.966	T	0.37709	-0.9694	10	0.66056	D	0.02	.	5.0977	0.14742	0.1586:0.0873:0.0:0.7542	.	547	O96018	APBA3_HUMAN	P	547	ENSP00000315136:T547P	ENSP00000315136:T547P	T	-	1	0	APBA3	3702204	1.000000	0.71417	0.838000	0.33150	0.015000	0.08874	3.472000	0.53114	0.637000	0.30526	-0.441000	0.05720	ACC	.	.	none		0.706	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			G	3751204	T	G	3751204	3	3	39	1	0	0	0	0	1	0	0	0	758	1696	59	5	96	5	APBA3	19	3751204	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10		3751204	55377779	106	24133										
VAV1	7409	hgsc.bcm.edu	37	chr19	6772991	6772991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	accccatgccatcaacctgcGtgaggtcaacctgcgccccc	8	19	2	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:6772991G>T	ENST00000602142.1	+	1	255	c.173G>T	c.(172-174)cGt>cTt	p.R58L	VAV1_ENST00000596764.1_Missense_Mutation_p.R58L|VAV1_ENST00000539284.1_5'UTR|VAV1_ENST00000304076.2_Missense_Mutation_p.R58L	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	58	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATCAACCTGCGTGAGGTCAAC	0.652																																					p.R58L		Atlas-SNP	.											VAV1,NS,carcinoma,+1,1	VAV1	140	1	0			c.G173T						scavenged	.						135	102	113					19																	6772991		2203	4300	6503	SO:0001583	missense	7409	exon1			ACCTGCGTGAGGT		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.173G>T	19.37:g.6772991G>T	ENSP00000472929:p.Arg58Leu	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	95	3	0.0315789	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	g	18.18	3.567497	0.65651	.	.	ENSG00000141968	ENST00000304076	T	0.64260	-0.09	4.32	4.32	0.51571	Calponin homology domain (5);	0.194857	0.31450	U	0.007633	T	0.62380	0.2423	L	0.38838	1.175	0.80722	D	1	P;P	0.48503	0.911;0.75	P;P	0.51297	0.665;0.541	T	0.65026	-0.6268	10	0.49607	T	0.09	.	14.3169	0.66457	0.0:0.0:1.0:0.0	.	58;58	B2R8B5;P15498	.;VAV_HUMAN	L	58	ENSP00000302269:R58L	ENSP00000302269:R58L	R	+	2	0	VAV1	6723991	0.962000	0.33011	0.976000	0.42696	0.926000	0.56050	2.421000	0.44688	1.953000	0.56701	0.306000	0.20318	CGT	.	.	none		0.652	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6772991	G	T	6772991	3	4	39	1	0	0	0	0	1	0	0	0	17128	1145	40	4	175	4	VAV1	19	6772991	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	3021787	6772991	52355992	107	24134										
PNPLA6	10908	hgsc.bcm.edu	37	chr19	7620541	7620541	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcattagaggaggcgggggtCcccgtggacctggtgggcgg	21	9	0	1	rs572115607		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:7620541C>T	ENST00000221249.6	+	27	3302	c.2871C>T	c.(2869-2871)gtC>gtT	p.V957V	PNPLA6_ENST00000450331.3_Silent_p.V957V|PNPLA6_ENST00000414982.3_Silent_p.V1005V|PNPLA6_ENST00000600737.1_Silent_p.V995V|PNPLA6_ENST00000545201.2_Silent_p.V930V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	996					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGCGGGGGTCCCCGTGGACC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10953	0.0		0.0	False		,,,				2504	0.0				p.V1005V		Atlas-SNP	.											.	PNPLA6	163	.	0			c.C3015T						PASS	.						33	33	33					19																	7620541		2203	4300	6503	SO:0001819	synonymous_variant	10908	exon26			GGGGGTCCCCGTG	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2871C>T	19.37:g.7620541C>T		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	84	36	0.428571	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																			.	.	none		0.672	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7620541	C	T	7620541	2	4	39	1	0	0	0	0	0	0	0	1	12169	842	30	2		2	PNPLA6	19	7620541	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	847550	7620541	51508442	108	24135										
S1PR2	9294	hgsc.bcm.edu	37	chr19	10334795	10334795	+	Missense_Mutation	SNP	A	A	G													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tttgtagaggatcgggcaggAgtggacgggacaggcatagt							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:10334795A>G	ENST00000590320.1	-	2	897	c.787T>C	c.(787-789)Tcc>Ccc	p.S263P	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	263					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATCGGGCAGGAGTGGACGGGA	0.602																																					p.S263P	Pancreas(194;229 3020 15179 45747)	Atlas-SNP	.											.	S1PR2	36	.	0			c.T787C						PASS	.						79	67	71					19																	10334795		2203	4300	6503	SO:0001583	missense	9294	exon2			GGCAGGAGTGGAC	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.787T>C	19.37:g.10334795A>G	ENSP00000466933:p.Ser263Pro	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	18	8	0.444444	NM_004230	Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	A	7.551	0.662679	0.14645	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.63	-11.3	0.00108	GPCR, rhodopsin-like superfamily (1);	0.999489	0.08097	N	0.998495	T	0.23289	0.0563	N	0.13352	0.335	0.19775	N	0.999952	B	0.27316	0.175	B	0.31869	0.137	T	0.40136	-0.9579	9	0.12766	T	0.61	.	17.8161	0.88634	0.8127:0.1317:0.0:0.0557	.	263	O95136	S1PR2_HUMAN	P	263	.	ENSP00000322049:S263P	S	-	1	0	S1PR2	10195795	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.435000	0.00472	-2.793000	0.00355	-0.319000	0.08680	TCC	.	.	none		0.602	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		G	10334795	A	G	10334795	3	3	39	1	0	0	0	0	1	0	0	0	13794	304	11	3	278	3	S1PR2	19	10334795	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	2714254	10334795	48794188	109	24136	497	2								
S1PR2	9294	hgsc.bcm.edu	37	chr19	10334796	10334796	+	Missense_Mutation	SNP	G	G	T													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttgtagaggatcgggcaggaGtggacgggacaggcatagtc							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:10334796G>T	ENST00000590320.1	-	2	896	c.786C>A	c.(784-786)caC>caA	p.H262Q	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	262					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCGGGCAGGAGTGGACGGGAC	0.597																																					p.H262Q	Pancreas(194;229 3020 15179 45747)	Atlas-SNP	.											.	S1PR2	36	.	0			c.C786A						PASS	.						79	67	71					19																	10334796		2203	4300	6503	SO:0001583	missense	9294	exon2			GCAGGAGTGGACG	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.786C>A	19.37:g.10334796G>T	ENSP00000466933:p.His262Gln	Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	18	8	0.444444	NM_004230	Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263065	0.10294	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.63	-9.3	0.00649	GPCR, rhodopsin-like superfamily (1);	0.279293	0.32068	N	0.006628	T	0.15176	0.0366	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12811	-1.0533	9	0.36615	T	0.2	.	8.6306	0.33917	0.1406:0.6179:0.1056:0.136	.	262	O95136	S1PR2_HUMAN	Q	262	.	ENSP00000322049:H262Q	H	-	3	2	S1PR2	10195796	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.194000	0.01243	-0.667000	0.05303	-0.141000	0.14075	CAC	.	.	none		0.597	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		T	10334796	G	T	10334796	3	4	39	1	0	0	0	0	1	0	0	0	13794	1020	36	4	279	4	S1PR2	19	10334796	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	1	10334796	48794187	110	24137	497	2								
ZNF709	163051	hgsc.bcm.edu	37	chr19	12577645	12577645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gggtgaagttcacagccacaTcctcaaagaccactgagtcc	9	13	2	3			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:12577645T>C	ENST00000397732.3	-	2	194	c.23A>G	c.(22-24)gAt>gGt	p.D8G	CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.D8G|ZNF709_ENST00000428311.1_Missense_Mutation_p.D8G	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	8	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CACAGCCACATCCTCAAAGAC	0.473																																					p.D8G	GBM(33;565 669 12371 29134 51667)	Atlas-SNP	.											.	ZNF709	80	.	0			c.A23G						PASS	.						92	93	93					19																	12577645		2203	4300	6503	SO:0001583	missense	163051	exon2			GCCACATCCTCAA	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.23A>G	19.37:g.12577645T>C	ENSP00000380840:p.Asp8Gly	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	50	11	0.22	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525627	0.64860	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.11930	2.73;2.73;2.73	3.09	3.09	0.35607	Krueppel-associated box (4);	0.000000	0.34828	N	0.003641	T	0.48624	0.1510	H	0.97465	4.01	0.34327	D	0.687282	D	0.89917	1.0	D	0.97110	1.0	T	0.70608	-0.4825	10	0.87932	D	0	.	9.6307	0.39778	0.0:0.0:0.0:1.0	.	8	Q8N972	ZN709_HUMAN	G	8;37;8	ENSP00000380840:D8G;ENSP00000398085:D37G;ENSP00000404127:D8G	ENSP00000404127:D8G	D	-	2	0	ZNF709;CTD-2192J16.17	12438645	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	1.442000	0.35046	1.660000	0.50760	0.402000	0.26972	GAT	.	.	none		0.473	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		C	12577645	T	C	12577645	3	2	39	1	0	0	0	0	1	0	0	0	18110	1435	50	2	1914	2	ZNF709	19	12577645	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	2242849	12577645	46551338	111	24138										
RFX1	5989	hgsc.bcm.edu	37	chr19	14074787	14074787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttgagcgacgtgtagcgccgCagtgtctgcgcgaaggcgcc	16	12	1	1	rs137952654	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:14074787C>T	ENST00000254325.4	-	17	2478	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	748	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGTAGCGCCGCAGTGTCTGCG	0.697													C|||	16	0.00319489	0.0	0.0043	5008	,	,		9368	0.0		0.0119	False		,,,				2504	0.001				p.L748L		Atlas-SNP	.											RFX1,NS,carcinoma,0,1	RFX1	63	1	0			c.G2244A						scavenged	.	C		6,4174		0,6,2084	21	13	15		2244	1	1	19	dbSNP_134	15	48,8144		0,48,4048	no	coding-synonymous	RFX1	NM_002918.4		0,54,6132	TT,TC,CC		0.5859,0.1435,0.4365		748/980	14074787	54,12318	2090	4096	6186	SO:0001819	synonymous_variant	5989	exon17			GCGCCGCAGTGTC		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2244G>A	19.37:g.14074787C>T		Somatic	15	3	0.2		WXS	Illumina HiSeq	Phase_I	13	9	0.692308	NM_002918		Silent	SNP	ENST00000254325.4	37	CCDS12301.1																																																																																			C|0.996;T|0.004	0.004	strong		0.697	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		T	14074787	C	T	14074787	2	4	39	1	0	0	0	0	0	0	0	1	13262	697	25	2		2	RFX1	19	14074787	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	1497142	14074787	45054196	112	24139										
DMKN	93099	hgsc.bcm.edu	37	chr19	36002421	36002422	+	In_Frame_Ins	INS	-	-	CTGCTGCTG													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgctgccactgctgctgccaINSccactgctgctgccattgtt					rs72334573	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:36002421_36002422insCTGCTGCTG	ENST00000339686.3	-	5	985_986	c.809_810insCAGCAGCAG	c.(808-810)ggt>ggCAGCAGCAGt	p.270_271insSSS	DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Ins_p.270_271insSSS|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Ins_p.270_271insSSS|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_In_Frame_Ins_p.270_271insSSS|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000418261.1_In_Frame_Ins_p.270_271insSSS|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000424570.2_In_Frame_Ins_p.270_271insSSS|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	270	Gly-rich.			Missing (in Ref. 3; ABN11273/ABN11274). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			tgctgctgccaccactgctgct	0.653																																					p.G270delinsGSSS		Atlas-Indel	.											DMKN,colon,carcinoma,0,1	DMKN	116	1	0			c.810_811insCAGCAGCAG						PASS	.																																			SO:0001652	inframe_insertion	93099	exon5			.	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.809_810insCAGCAGCAG	19.37:g.36002421_36002422insCTGCTGCTG	ENSP00000342012:p.Gly270_Gly271insSerSerSer	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	47	14	0.297872	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Ins	INS	ENST00000339686.3	37	CCDS12463.1																																																																																			.	.	alt		0.653	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		CTGCTGCTG	36002422	-	CTGCTGCTG	36002421	7	5	39	1	0	1	1	0	0	0	0	0	4582	146	6	0	985	0	DMKN	19	36002421	In_Frame_Ins	INS	-	TCGA-RQ-A6JB-01A-11D-A31X-10	21927634	36002421	23126562	113	24140										
ZNF285	26974	hgsc.bcm.edu	37	chr19	44891010	44891010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgtgaagaacagagctatacGcaaaatcctttccacacaca	6	11	0	3	rs150792548	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G|ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																					p.A466G		Atlas-SNP	.											ZNF285,NS,carcinoma,+1,2	ZNF285	86	2	1	Substitution - Missense(1)	skin(1)	c.C1397G						scavenged	.						83	84	83					19																	44891010		2203	4300	6503	SO:0001583	missense	26974	exon4			CTATACGCAAAAT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly	Somatic	114	2	0.0175439		WXS	Illumina HiSeq	Phase_I	92	4	0.0434783	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG	A|0.002;C|0.002;G|0.995	0.002	strong		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891010	G	C	44891010	3	2	39	1	0	0	0	0	1	0	0	0	17819	1087	38	4	379	4	ZNF285	19	44891010	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	8888589	44891010	14237973	114	24141										
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cctcgctctctcctcctcctCctgctgcttctgctggatcc	6	20	2	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:47572412C>G	ENST00000253048.5	-	14	2372	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701																																					p.E779Q		Atlas-SNP	.											ZC3H4,colon,carcinoma,0,1	ZC3H4	96	1	0			c.G2335C						scavenged	.						60	69	66					19																	47572412		2082	4205	6287	SO:0001583	missense	23211	exon14			CCTCCTCCTGCTG	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2335G>C	19.37:g.47572412C>G	ENSP00000253048:p.Glu779Gln	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	35	2	0.0571429	NM_015168	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765923	0.90020	.	.	ENSG00000130749	ENST00000253048	T	0.21361	2.01	5.03	5.03	0.67393	.	0.259884	0.30043	N	0.010552	T	0.41305	0.1153	L	0.48642	1.525	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.13202	-1.0518	10	0.56958	D	0.05	.	17.2939	0.87164	0.0:1.0:0.0:0.0	.	779	Q9UPT8	ZC3H4_HUMAN	Q	779	ENSP00000253048:E779Q	ENSP00000253048:E779Q	E	-	1	0	ZC3H4	52264252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	2.619000	0.88677	0.491000	0.48974	GAG	.	.	none		0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			G	47572412	C	G	47572412	3	3	39	1	0	0	0	0	1	0	0	0	17567	864	30	4	1584	4	ZC3H4	19	47572412	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	2681402	47572412	11556571	115	24142										
SIGLEC10	89790	hgsc.bcm.edu	37	chr19	51920119	51920119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gggggtggacattcctcaaaGgcccagttaaacacacagat	11	10	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:51920119G>A	ENST00000339313.5	-	3	623	c.507C>T	c.(505-507)gcC>gcT	p.A169A	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000353836.5_Silent_p.A169A|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000525998.1_Silent_p.A169A|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.A169A|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	169	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATTCCTCAAAGGCCCAGTTAA	0.597																																					p.A169A		Atlas-SNP	.											SIGLEC10,NS,carcinoma,-1,1	SIGLEC10	112	1	0			c.C507T						scavenged	.						98	99	98					19																	51920119		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon3			CTCAAAGGCCCAG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.507C>T	19.37:g.51920119G>A		Somatic	176	2	0.0113636		WXS	Illumina HiSeq	Phase_I	197	6	0.0304569	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																			.	.	none		0.597	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51920119	G	A	51920119	2	1	39	1	0	0	0	0	0	0	0	1	14306	987	35	2		2	SIGLEC10	19	51920119	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	4347707	51920119	7208864	116	24143										
KIR3DL2	3812	hgsc.bcm.edu	37	chr19	55367311	55367311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cagatgcttcggctctttccGtgccctgccctgcgtgtggt	12	14	1	1	rs113800142	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:55367311G>A	ENST00000326321.3	+	5	926	c.893G>A	c.(892-894)cGt>cAt	p.R298H	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R298H	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	298	Ig-like C2-type 3.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGCTCTTTCCGTGCCCTGCCC	0.567													.|||	348	0.0694888	0.0794	0.0591	5008	,	,		10257	0.0397		0.0636	False		,,,				2504	0.1002				p.R298H		Atlas-SNP	.											KIR3DL2,NS,carcinoma,0,1	KIR3DL2	55	1	0			c.G893A						scavenged	.	G	HIS/ARG	173,3101		9,155,1473	5	6	6		893	-2	0	19	dbSNP_132	6	521,6479		39,443,3018	no	missense	KIR3DL2	NM_006737.3	29	48,598,4491	AA,AG,GG		7.4429,5.2841,6.7549	benign	298/456	55367311	694,9580	1637	3500	5137	SO:0001583	missense	3812	exon5			CTTTCCGTGCCCT	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.893G>A	19.37:g.55367311G>A	ENSP00000325525:p.Arg298His	Somatic	42	19	0.452381		WXS	Illumina HiSeq	Phase_I	33	23	0.69697	NM_001242867	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	0.311	-0.967828	0.02232	0.052841	0.074429	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00768	5.72;5.72	0.993	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00073	0.0002	L	0.43701	1.375	0.09310	N	1	B;B;B	0.15930	0.015;0.011;0.013	B;B;B	0.06405	0.002;0.001;0.0	T	0.44544	-0.9321	9	0.52906	T	0.07	.	2.9371	0.05818	0.3559:0.2417:0.4024:0.0	.	298;298;103	Q95366;P43630;B5MCJ6	.;KI3L2_HUMAN;.	H	298	ENSP00000325525:R298H;ENSP00000270442:R298H	ENSP00000270442:R298H	R	+	2	0	KIR3DL2	60059123	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.304000	0.00256	-1.364000	0.02161	-1.254000	0.01491	CGT	G|0.910;A|0.091	0.091	strong		0.567	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			A	55367311	G	A	55367311	3	1	39	1	0	0	0	0	1	0	0	0	8321	1145	40	1	911	1	KIR3DL2	19	55367311	Missense_Mutation	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	3447192	55367311	3761672	117	24144										
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		Atlas-SNP	.											.	PPP1R12C	46	.	0			c.T303C						PASS	.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	7	4	0.571429	NM_017607		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192	0.192	strong		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	39	1	0	0	0	0	0	0	0	1	12356	378	14	2		2	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	261298	55628609	3500374	118	24145										
PEG3	5178	hgsc.bcm.edu	37	chr19	57327786	57327786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccttattgtaagttttctgaCgccttttaagggactgacca	8	9	1	2	rs371769465		TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:57327786C>G	ENST00000326441.9	-	10	2387	c.2024G>C	c.(2023-2025)cGt>cCt	p.R675P	PEG3_ENST00000598410.1_Missense_Mutation_p.R551P|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R675P|PEG3_ENST00000593695.1_Missense_Mutation_p.R549P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	675					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGTTTTCTGACGCCTTTTAAG	0.423																																					p.R675P		Atlas-SNP	.											ZIM2_ENST00000326441,NS,carcinoma,0,4	PEG3	414	4	0			c.G2024C						PASS	.						106	108	107					19																	57327786		2203	4300	6503	SO:0001583	missense	5178	exon9			TTCTGACGCCTTT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2024G>C	19.37:g.57327786C>G	ENSP00000326581:p.Arg675Pro	Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	181	8	0.0441989	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872774	0.51695	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.05	0.0115	0.14087	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.662273	0.13428	N	0.388633	T	0.10165	0.0249	M	0.73962	2.25	.	.	.	D;D;D	0.71674	0.976;0.997;0.998	P;P;D	0.65323	0.706;0.902;0.934	T	0.10847	-1.0612	9	0.72032	D	0.01	-9.8771	6.8386	0.23951	0.0:0.4257:0.0:0.5743	.	551;675;610	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	P	675	ENSP00000326581:R675P;ENSP00000403051:R675P	ENSP00000326581:R675P	R	-	2	0	ZIM2	62019598	0.746000	0.28272	0.080000	0.20451	0.673000	0.39480	0.972000	0.29409	0.072000	0.16694	0.585000	0.79938	CGT	.	.	alt		0.423	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57327786	C	G	57327786	3	3	39	1	0	0	0	0	1	0	0	0	11720	536	19	4	2746	4	PEG3	19	57327786	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	1699177	57327786	1801197	119	24146										
ZNF547	284306	hgsc.bcm.edu	37	chr19	57889497	57889497	+	Missense_Mutation	SNP	A	A	G													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	agcagtgcagtgaatgtgggAaattctttaggtataactct							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:57889497A>G	ENST00000282282.3	+	4	1303	c.1153A>G	c.(1153-1155)Aaa>Gaa	p.K385E	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	385					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(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAATGTGGGAAATTCTTTAG	0.448																																					p.K385E		Atlas-SNP	.											ZNF547,NS,carcinoma,-1,1	ZNF547	45	1	0			c.A1153G						PASS	.						75	68	70					19																	57889497		2203	4300	6503	SO:0001583	missense	284306	exon4			TGTGGGAAATTCT	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.1153A>G	19.37:g.57889497A>G	ENSP00000282282:p.Lys385Glu	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	73	20	0.273973	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893684	0.52121	.	.	ENSG00000152433	ENST00000282282	T	0.60040	0.22	1.81	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59128	0.2171	M	0.75447	2.3	0.22354	N	0.999175	P	0.50369	0.934	P	0.45660	0.489	T	0.51973	-0.8637	8	.	.	.	.	8.9234	0.35625	1.0:0.0:0.0:0.0	.	385	Q8IVP9	ZN547_HUMAN	E	385	ENSP00000282282:K385E	.	K	+	1	0	ZNF547	62581309	0.987000	0.35691	0.383000	0.26132	0.685000	0.39939	0.230000	0.17852	1.088000	0.41272	0.397000	0.26171	AAA	.	.	none		0.448	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		G	57889497	A	G	57889497	3	3	39	1	0	0	0	0	1	0	0	0	17976	247	9	2	1163	2	ZNF547	19	57889497	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	561711	57889497	1239486	120	24147	498	2								
ZNF547	284306	hgsc.bcm.edu	37	chr19	57889498	57889498	+	Missense_Mutation	SNP	A	A	C													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcagtgcagtgaatgtgggaAattctttaggtataactcta							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr19:57889498A>C	ENST00000282282.3	+	4	1304	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K385R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATGTGGGAAATTCTTTAGG	0.448																																					p.K385T		Atlas-SNP	.											ZNF547,NS,carcinoma,0,1	ZNF547	45	1	1	Substitution - Missense(1)	endometrium(1)	c.A1154C						PASS	.						75	68	70					19																	57889498		2203	4300	6503	SO:0001583	missense	284306	exon4			GTGGGAAATTCTT	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.1154A>C	19.37:g.57889498A>C	ENSP00000282282:p.Lys385Thr	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	73	19	0.260274	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387608	0.61956	.	.	ENSG00000152433	ENST00000282282	T	0.60299	0.2	1.81	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75398	0.3844	M	0.92459	3.31	0.23144	N	0.998222	D	0.61697	0.99	P	0.58577	0.841	T	0.64300	-0.6440	8	.	.	.	.	8.9234	0.35625	1.0:0.0:0.0:0.0	.	385	Q8IVP9	ZN547_HUMAN	T	385	ENSP00000282282:K385T	.	K	+	2	0	ZNF547	62581310	0.988000	0.35896	0.327000	0.25402	0.678000	0.39670	0.685000	0.25378	1.088000	0.41272	0.397000	0.26171	AAA	.	.	none		0.448	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		C	57889498	A	C	57889498	3	2	39	1	0	0	0	0	1	0	0	0	17976	14	1	5	1164	5	ZNF547	19	57889498	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10	1	57889498	1239485	121	24148	498	2								
DUSP15	128853	hgsc.bcm.edu	37	chr20	30449325	30449325	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gcgcggcaccaggcgctgcaCggttccctcggaggctgctg	16	15	0	0	rs947310	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr20:30449325C>G	ENST00000278979.3	-	6	503				DUSP15_ENST00000339738.5_Missense_Mutation_p.V197L|DUSP15_ENST00000486996.1_Missense_Mutation_p.V94L|DUSP15_ENST00000398083.1_Missense_Mutation_p.V94L|DUSP15_ENST00000375966.4_Missense_Mutation_p.V194L|DUSP15_ENST00000493115.1_5'Flank|DUSP15_ENST00000398084.2_Missense_Mutation_p.V94L			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15						positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCGCTGCACGGTTCCCTCG	0.746													G|||	1767	0.352835	0.7625	0.3458	5008	,	,		10036	0.004		0.4066	False		,,,				2504	0.1084				p.V197L		Atlas-SNP	.											.	DUSP15	28	.	0			c.G589C						PASS	.	G	LEU/VAL,LEU/VAL,LEU/VAL	2270,1484		747,776,354	3	5	4		280,589,280	1.3	1	20	dbSNP_86	4	2513,5053		543,1427,1813	no	missense,missense,missense	DUSP15	NM_001012644.1,NM_080611.3,NM_177991.1	32,32,32	1290,2203,2167	GG,GC,CC		33.2144,39.5312,42.2527	benign,benign,benign	94/133,197/236,94/133	30449325	4783,6537	1877	3783	5660	SO:0001627	intron_variant	128853	exon7			GCTGCACGGTTCC		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16236	protein-coding gene	gene with protein product			"dual specificity phosphatase-like 15"			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.426+1048G>C	20.37:g.30449325C>G		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	6	6	1	NM_080611	A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37		795	0.364010989010989	359	0.7296747967479674	129	0.356353591160221	3	0.005244755244755245	304	0.40105540897097625	G	2.098	-0.406724	0.04832	0.604688	0.332144	ENSG00000149599	ENST00000398084;ENST00000339738;ENST00000486996;ENST00000375966;ENST00000398083	T;T;T;T;T	0.39787	1.06;3.96;1.06;3.96;1.06	3.38	1.28	0.21552	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.53688	P	2.1000000000048757E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39840	-0.9594	7	0.07990	T	0.79	.	4.2732	0.10796	0.2356:0.362:0.4024:0.0	rs947310;rs17857463;rs947310	197;94	Q9H1R2-3;A8MVC8	.;.	L	94;197;94;194;94	ENSP00000381158:V94L;ENSP00000341658:V197L;ENSP00000419818:V94L;ENSP00000365133:V194L;ENSP00000381157:V94L	ENSP00000341658:V197L	V	-	1	0	DUSP15	29912986	0.998000	0.40836	0.994000	0.49952	0.596000	0.36781	0.214000	0.17541	-0.127000	0.11661	-1.248000	0.01517	GTG	C|0.640;G|0.360	0.360	strong		0.746	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		G	30449325	C	G	30449325	1	3	39	0	1	0	0	0	0	0	0	0	4815	536	19	4		4	DUSP15	20	30449325	Intron	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		30449325	32576195	122	24149										
SALL4	57167	hgsc.bcm.edu	37	chr20	50408196	50408196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttggcttccagctttctggcTgagcaaagccacagctgcag	11	12	1	1			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr20:50408196T>G	ENST00000217086.4	-	2	937	c.826A>C	c.(826-828)Agc>Cgc	p.S276R	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.S276R	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	276					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTTTCTGGCTGAGCAAAGCC	0.607																																					p.S276R		Atlas-SNP	.											.	SALL4	168	.	0			c.A826C						PASS	.						53	44	47					20																	50408196		2203	4300	6503	SO:0001583	missense	57167	exon2			TCTGGCTGAGCAA	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.826A>C	20.37:g.50408196T>G	ENSP00000217086:p.Ser276Arg	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	29	8	0.275862	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481871	0.63849	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.70631	-0.5;-0.5	5.29	4.17	0.49024	.	0.116249	0.39759	N	0.001276	T	0.65302	0.2678	M	0.80028	2.48	0.80722	D	1	P;P	0.47302	0.893;0.744	B;B	0.39068	0.289;0.289	T	0.71199	-0.4663	10	0.87932	D	0	-37.3797	3.3042	0.06993	0.0:0.3594:0.0:0.6406	.	276;276	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	R	276	ENSP00000217086:S276R;ENSP00000379319:S276R	ENSP00000217086:S276R	S	-	1	0	SALL4	49841603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.877000	0.63086	1.996000	0.58369	0.533000	0.62120	AGC	.	.	none		0.607	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			G	50408196	T	G	50408196	3	3	39	1	0	0	0	0	1	0	0	0	13813	1580	55	5	2347	5	SALL4	20	50408196	Missense_Mutation	SNP	T	TCGA-RQ-A6JB-01A-11D-A31X-10	19958871	50408196	12617324	123	24150										
RNF160	26046	hgsc.bcm.edu	37	chr21	30365143	30365143	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ccatggtcgcggttgcagctGtactctgagcactcagaccc	11	14	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr21:30365143G>A	ENST00000361371.5	-	0	63				LTN1_ENST00000389194.2_Missense_Mutation_p.T41I|LTN1_ENST00000389195.2_Missense_Mutation_p.T41I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGTTGCAGCTGTACTCTGAGC	0.637																																					p.T41I		Atlas-SNP	.											.	LTN1	141	.	0			c.C122T						PASS	.						71	56	61					21																	30365143		2203	4300	6503	SO:0001623	5_prime_UTR_variant	26046	exon1			GCAGCTGTACTCT	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.-17C>T	21.37:g.30365143G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	27	0.321429	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744234	0.30865	.	.	ENSG00000198862	ENST00000389194;ENST00000389195	T;T	0.23950	2.24;1.88	4.49	-1.12	0.09808	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.20196	N	0.999928	.	.	.	.	.	.	T	0.29852	-0.9998	7	0.26408	T	0.33	.	2.0606	0.03591	0.314:0.1198:0.4439:0.1224	.	.	.	.	I	41	ENSP00000373846:T41I;ENSP00000373847:T41I	ENSP00000373846:T41I	T	-	2	0	LTN1	29287014	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-0.194000	0.09559	-0.140000	0.11394	-0.345000	0.07892	ACA	.	.	none		0.637	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30365143	G	A	30365143	1	1	39	0	1	0	0	0	0	0	0	0	13455	1377	48	2		2	RNF160	21	30365143	5'UTR	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10		30365143	17764752	124	24151										
RFPL3	10738	hgsc.bcm.edu	37	chr22	32756576	32756576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	gtgccgctgactttcctcttAgtagaccgcaagttacagcg	10	12	1	2	rs199572344	byFrequency	TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chr22:32756576A>C	ENST00000249007.4	+	2	916	c.711A>C	c.(709-711)ttA>ttC	p.L237F	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.L208F|RFPL3_ENST00000397468.1_Missense_Mutation_p.L208F|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	237	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTTCCTCTTAGTAGACCGCA	0.498													N|||	61	0.0121805	0.0174	0.0058	5008	,	,		21076	0.004		0.0288	False		,,,				2504	0.001				p.L237F		Atlas-SNP	.											RFPL3_ENST00000249007,NS,carcinoma,0,2	RFPL3	91	2	0			c.A711C						scavenged	.						116	105	109					22																	32756576		2203	4300	6503	SO:0001583	missense	10738	exon2			CCTCTTAGTAGAC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.711A>C	22.37:g.32756576A>C	ENSP00000249007:p.Leu237Phe	Somatic	217	4	0.0184332		WXS	Illumina HiSeq	Phase_I	235	13	0.0553191	NM_001098535	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.477361	0.01035	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.68479	-0.33;-0.33;-0.33	0.664	-1.33	0.09172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.42017	0.1184	N	0.21142	0.635	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.22765	-1.0207	9	0.10111	T	0.7	.	3.6544	0.08215	0.2182:0.2587:0.5231:0.0	.	237	O75679	RFPL3_HUMAN	F	208;237;208	ENSP00000380609:L208F;ENSP00000249007:L237F;ENSP00000371520:L208F	ENSP00000249007:L237F	L	+	3	2	RFPL3	31086576	0.000000	0.05858	0.001000	0.08648	0.283000	0.27025	-0.614000	0.05604	-1.459000	0.01914	-1.045000	0.02358	TTA	A|0.999;C|0.001	0.001	weak		0.498	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		C	32756576	A	C	32756576	3	2	39	1	0	0	0	0	1	0	0	0	13255	417	15	5	717	5	RFPL3	22	32756576	Missense_Mutation	SNP	A	TCGA-RQ-A6JB-01A-11D-A31X-10		32756576	18547990	125	24152										
CDKL5	6792	hgsc.bcm.edu	37	chrX	18671625	18671625	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	caggtaaaccaagctgcgctCctgacataccatgagaatgc	9	12	0	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chrX:18671625C>G	ENST00000379989.3	+	22	3339	c.3054C>G	c.(3052-3054)ctC>ctG	p.L1018L	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Silent_p.L1018L|RS1_ENST00000476595.1_5'Flank	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1018					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAGCTGCGCTCCTGACATACC	0.547																																					p.L1018L		Atlas-SNP	.											.	CDKL5	124	.	0			c.C3054G						PASS	.						70	52	58					X																	18671625		2203	4300	6503	SO:0001819	synonymous_variant	6792	exon21			TGCGCTCCTGACA	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3054C>G	X.37:g.18671625C>G		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	46	13	0.282609	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	CCDS14186.1																																																																																			.	.	none		0.547	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		G	18671625	C	G	18671625	2	3	39	1	0	0	0	0	0	0	0	1	3157	842	30	4		4	CDKL5	23	18671625	Silent	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10		18671625	136598935	126	24153										
FAAH2	158584	hgsc.bcm.edu	37	chrX	57515299	57515299	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ggaccctttaatgatcatctGaccctggctgtggcccagta	10	12	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chrX:57515299G>T	ENST00000374900.4	+	11	1653	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	511						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCATCTGACCCTGGCTG	0.527										HNSCC(52;0.14)																											p.L511L		Atlas-SNP	.											.	FAAH2	66	.	0			c.G1533T						PASS	.						85	74	78					X																	57515299		2203	4300	6503	SO:0001819	synonymous_variant	158584	exon11			TCATCTGACCCTG	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1533G>T	X.37:g.57515299G>T		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	130	34	0.261538	NM_174912	Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	37	CCDS14375.1																																																																																			.	.	none		0.527	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		T	57515299	G	T	57515299	2	4	39	1	0	0	0	0	0	0	0	1	5354	1277	45	4		4	FAAH2	23	57515299	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	38843674	57515299	97755261	127	24154										
ATRX	546	hgsc.bcm.edu	37	chrX	76778785	76778787	+	In_Frame_Del	DEL	TCT	TCT	-													0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	ttctttcttcttcagtcaacTcttcttcttctttgtggtcc							TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chrX:76778785_76778787delTCT	ENST00000373344.5	-	31	7006_7008	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.2226_2227EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2264	Interaction with MECP2.|Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCAGTCAACTCTTCTTCTTCTT	0.369			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.2265_2265del		Pindel	.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833	.	0			c.6793_6795del						PASS	.																																			SO:0001651	inframe_deletion	546	exon31			.	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6792_6794delAGA	X.37:g.76778794_76778796delTCT	ENSP00000362441:p.Glu2265del	Somatic	0	.	.		WXS	Illumina HiSeq	Phase_I	10	10	1	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																			.	.	none		0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76778787	TCT	-	76778785	7	5	39	1	0	1	0	1	0	0	0	0	1208	1551	54	0	704	0	ATRX	23	76778785	In_Frame_Del	DEL	TCT	TCGA-RQ-A6JB-01A-11D-A31X-10	19263486	76778785	78491775	128	24155										
DACH2	117154	hgsc.bcm.edu	37	chrX	85403679	85403679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	cttccagcggcgccggcgtcCcggggggcttattccgggcc	16	16	0	0			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chrX:85403679C>T	ENST00000373125.4	+	1	55	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	DACH2_ENST00000373131.1_Missense_Mutation_p.P19S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	19					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGCCGGCGTCCCGGGGGGCTT	0.582																																					p.P19S		Atlas-SNP	.											.	DACH2	263	.	0			c.C55T						PASS	.						17	17	17					X																	85403679		2201	4291	6492	SO:0001583	missense	117154	exon1			GGCGTCCCGGGGG	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.55C>T	X.37:g.85403679C>T	ENSP00000362217:p.Pro19Ser	Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	121	41	0.338843	NM_001139514	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578490	0.03854	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;T	0.81499	-1.5;-1.49	4.64	2.87	0.33458	.	0.669254	0.13433	N	0.388254	T	0.55337	0.1914	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.37572	-0.9700	10	0.10377	T	0.69	.	3.1449	0.06468	0.0:0.4362:0.2055:0.3583	.	19;19	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	S	19	ENSP00000362223:P19S;ENSP00000362217:P19S	ENSP00000345134:P19S	P	+	1	0	DACH2	85290335	0.011000	0.17503	0.888000	0.34837	0.009000	0.06853	0.048000	0.14078	0.409000	0.25649	-0.276000	0.10085	CCG	.	.	none		0.582	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	85403679	C	T	85403679	3	4	39	1	0	0	0	0	1	0	0	0	4221	623	22	2	57	2	DACH2	23	85403679	Missense_Mutation	SNP	C	TCGA-RQ-A6JB-01A-11D-A31X-10	8624894	85403679	69866881	129	24156										
MAGEC1	9947	hgsc.bcm.edu	37	chrX	140995449	140995449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032258064516129	4	1	0.590820786789704	1.71338028169014	0.356954225352113	1	1	0	tgctcctcctccacttctttGagtcttccccagagtttccc	5	17	2	2			TCGA-RQ-A6JB-01A-11D-A31X-10	TCGA-RQ-A6JB-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	820fd611-7c08-4a0a-8884-6d25954b28f4	47b47ec9-ab7b-47f1-b2f6-e76b3584891f	g.chrX:140995449G>A	ENST00000285879.4	+	4	2545	c.2259G>A	c.(2257-2259)ttG>ttA	p.L753L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	753										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCTTTGAGTCTTCCCC	0.552										HNSCC(15;0.026)																											p.L753L		Atlas-SNP	.											.	MAGEC1	317	.	0			c.G2259A						PASS	.						133	145	141					X																	140995449		2203	4300	6503	SO:0001819	synonymous_variant	9947	exon4			TTCTTTGAGTCTT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2259G>A	X.37:g.140995449G>A		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	49	17	0.346939	NM_005462	A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																			.	.	none		0.552	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140995449	G	A	140995449	2	1	39	1	0	0	0	0	0	0	0	1	9180	1281	45	2		2	MAGEC1	23	140995449	Silent	SNP	G	TCGA-RQ-A6JB-01A-11D-A31X-10	55591770	140995449	14275111	130	24157										
PLCH2	9651	hgsc.bcm.edu	37	chr1	2422698	2422698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggattccctcatcaaagagtCgaagattcgggactgtgagg	13	8	2	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:2422698C>T	ENST00000419816.2	+	11	1857	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	RP3-395M20.2_ENST00000424657.1_RNA|RP3-395M20.3_ENST00000442305.1_RNA|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.S528L|PLCH2_ENST00000378486.3_Missense_Mutation_p.S528L|PLCH2_ENST00000449969.1_Missense_Mutation_p.S501L			O75038	PLCH2_HUMAN	phospholipase C, eta 2	528					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ATCAAAGAGTCGAAGATTCGG	0.542																																					p.S528L		Atlas-SNP	.											.	PLCH2	131	.	0			c.C1583T						PASS	.						83	91	88					1																	2422698		1982	4152	6134	SO:0001583	missense	9651	exon11			AAGAGTCGAAGAT	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1583C>T	1.37:g.2422698C>T	ENSP00000389803:p.Ser528Leu	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	39	7	0.179487	NM_014638	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	C	18.90	3.722431	0.68959	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.46451	0.87;0.87;0.87	5.03	4.1	0.47936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.329188	0.28871	N	0.013871	T	0.63177	0.2489	M	0.81341	2.54	0.80722	D	1	D;P;D;P	0.71674	0.998;0.949;0.996;0.865	P;B;P;B	0.62184	0.899;0.275;0.819;0.233	T	0.69139	-0.5224	10	0.66056	D	0.02	.	14.474	0.67535	0.0:0.8518:0.1482:0.0	.	375;316;501;528	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	L	501;528;528;375;316	ENSP00000397289:S501L;ENSP00000367747:S528L;ENSP00000367749:S528L	ENSP00000278878:S316L	S	+	2	0	PLCH2	2412558	1.000000	0.71417	0.958000	0.39756	0.901000	0.52897	5.514000	0.67043	1.083000	0.41159	0.561000	0.74099	TCG	.	.	none		0.542	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		T	2422698	C	T	2422698	3	4	40	1	0	0	0	0	1	0	0	0	12038	893	31	1	1625	1	PLCH2	1	2422698	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		2422698	246827923	1	24158										
HNRNPCL1	343069	hgsc.bcm.edu	37	chr1	12907275	12907275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atgtgcttaagagtcatcctGgccattggtgctgtctctgt	11	9	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:12907275G>C	ENST00000317869.6	-	2	1093	c.868C>G	c.(868-870)Cag>Gag	p.Q290E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	290						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAGTCATCCTGGCCATTGGTG	0.443																																					p.Q290E		Atlas-SNP	.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	1	0			c.C868G						scavenged	.						125	135	132					1																	12907275		2203	4299	6502	SO:0001583	missense	343069	exon2			CATCCTGGCCATT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.868C>G	1.37:g.12907275G>C	ENSP00000365370:p.Gln290Glu	Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	104	2	0.0192308	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.135616	0.00001	.	.	ENSG00000179172	ENST00000317869	T	0.07216	3.21	1.09	-2.18	0.07037	.	0.420350	0.20880	N	0.084017	T	0.01353	0.0044	N	0.00583	-1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	.	2.6632	0.05032	0.0:0.3331:0.2756:0.3913	.	290	O60812	HNRCL_HUMAN	E	290	ENSP00000365370:Q290E	ENSP00000365370:Q290E	Q	-	1	0	HNRNPCL1	12829862	0.994000	0.37717	0.016000	0.15963	0.063000	0.16089	-0.019000	0.12546	-1.068000	0.03156	-0.786000	0.03341	CAG	.	.	none		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907275	G	C	12907275	3	2	40	1	0	0	0	0	1	0	0	0	7263	1357	47	4	15	4	HNRNPCL1	1	12907275	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	10484577	12907275	236343346	2	24159										
TGFBR3	7049	hgsc.bcm.edu	37	chr1	92262875	92262875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gctggccaggcccctggcctGcagtgcggagattcaggaca	15	13	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:92262875G>A	ENST00000525962.1	-	2	276	c.215C>T	c.(214-216)gCa>gTa	p.A72V	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A72V|TGFBR3_ENST00000212355.4_Missense_Mutation_p.A72V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	72					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCCCTGGCCTGCAGTGCGGAG	0.582																																					p.A72V		Atlas-SNP	.											.	TGFBR3	103	.	0			c.C215T						PASS	.						129	135	133					1																	92262875		2203	4300	6503	SO:0001583	missense	7049	exon4			TGGCCTGCAGTGC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.215C>T	1.37:g.92262875G>A	ENSP00000436127:p.Ala72Val	Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	147	63	0.428571	NM_001195684	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973422	0.34848	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.57	0.33	0.15929	.	1.116350	0.06529	N	0.741131	T	0.09730	0.0239	L	0.36672	1.1	0.09310	N	1	B;B	0.23249	0.082;0.037	B;B	0.28011	0.085;0.025	T	0.43475	-0.9389	10	0.59425	D	0.04	0.0	4.6991	0.12818	0.0674:0.2453:0.4336:0.2537	.	72;72	Q03167-2;Q03167	.;TGBR3_HUMAN	V	72	ENSP00000212355:A72V;ENSP00000359426:A72V;ENSP00000436127:A72V;ENSP00000432638:A72V	ENSP00000212355:A72V	A	-	2	0	TGFBR3	92035463	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.743000	0.26231	-0.177000	0.10690	-0.182000	0.12963	GCA	.	.	none		0.582	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		A	92262875	G	A	92262875	3	1	40	1	0	0	0	0	1	0	0	0	15820	1319	46	2	2400	2	TGFBR3	1	92262875	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	79355600	92262875	156987746	3	24160										
VANGL1	81839	hgsc.bcm.edu	37	chr1	116206843	116206843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgttcacgctgcaggtggtcCgctccaccgatggcgagtcc	13	14	1	0	rs199932833		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:116206843C>T	ENST00000355485.2	+	4	1037	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	VANGL1_ENST00000369509.1_Missense_Mutation_p.R256C|VANGL1_ENST00000310260.3_Missense_Mutation_p.R256C|VANGL1_ENST00000369510.4_Missense_Mutation_p.R254C	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	256					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCAGGTGGTCCGCTCCACCGA	0.597																																					p.R256C		Atlas-SNP	.											.	VANGL1	65	.	0			c.C766T						PASS	.						53	50	51					1																	116206843		2203	4300	6503	SO:0001583	missense	81839	exon4			GTGGTCCGCTCCA	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.766C>T	1.37:g.116206843C>T	ENSP00000347672:p.Arg256Cys	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	96	34	0.354167	NM_138959	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631358	0.87660	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94379	0.7603	10	0.87932	D	0	-0.3431	15.0586	0.71933	0.1419:0.8581:0.0:0.0	.	254;256	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	C	256;254;256;256	ENSP00000347672:R256C;ENSP00000358523:R254C;ENSP00000310800:R256C;ENSP00000358522:R256C	ENSP00000310800:R256C	R	+	1	0	VANGL1	116008366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.621000	0.67743	2.879000	0.98667	0.650000	0.86243	CGC	.	.	weak		0.597	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			T	116206843	C	T	116206843	3	4	40	1	0	0	0	0	1	0	0	0	17116	652	23	1	776	1	VANGL1	1	116206843	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	23943968	116206843	133043778	4	24161										
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		Atlas-SNP	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2,brain,glioma,0,1	NOTCH2	348	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						scavenged	.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	5	1	0.2		WXS	Illumina HiSeq	Phase_I	5	4	0.8	NM_001200001	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.681;C|0.319	0.319	strong		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	40	1	0	0	0	0	1	0	0	0	10548	1079	38	4	7494	4	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	4405121	120611964	128638657	5	24162										
NOTCH2NL	388677	hgsc.bcm.edu	37	chr1	145248876	145248876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aatgtgtgttacctaccacaAtggcacaggatactgcaagt	9	9	0	0	rs200866084		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:145248876A>G	ENST00000369340.3	+	3	464	c.20A>G	c.(19-21)aAt>aGt	p.N7S	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.N7S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.N7S			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	7	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N7S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCTACCACAATGGCACAGGA	0.348																																					p.N7S		Atlas-SNP	.											NOTCH2NL_ENST00000362074,colon,carcinoma,0,2	NOTCH2NL	100	2	2	Substitution - Missense(2)	large_intestine(2)	c.A20G						scavenged	.						11	10	10					1																	145248876		2011	4104	6115	SO:0001583	missense	388677	exon2			ACCACAATGGCAC		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.20A>G	1.37:g.145248876A>G	ENSP00000358346:p.Asn7Ser	Somatic	2693	459	0.170442		WXS	Illumina HiSeq	Phase_I	2613	440	0.168389	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596096	0.46318	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.63255	-0.03;-0.03;-0.03	3.15	3.15	0.36227	Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47432	0.1445	L	0.35793	1.09	0.22552	N	0.998997	D;D	0.63880	0.993;0.988	P;P	0.55391	0.775;0.6	T	0.26087	-1.0113	9	0.49607	T	0.09	.	7.9433	0.29971	1.0:0.0:0.0:0.0	.	7;7	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	S	7	ENSP00000354929:N7S;ENSP00000344557:N7S;ENSP00000358346:N7S	ENSP00000344557:N7S	N	+	2	0	NOTCH2NL	143960233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.487000	0.60293	1.439000	0.47511	0.329000	0.21502	AAT	.	.	weak		0.348	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		G	145248876	A	G	145248876	3	3	40	1	0	0	0	0	1	0	0	0	10549	101	4	2	22	2	NOTCH2NL	1	145248876	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	24636912	145248876	104001745	6	24163										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299906	145299906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aatgttttctaactcaactgTccggcttcctggccaaccaa	6	13	2	0	rs199863138		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:145299906T>G	ENST00000369338.1	+	2	332	c.142T>G	c.(142-144)Tcc>Gcc	p.S48A	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.S319A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	319						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACTCAACTGTCCGGCTTCCT	0.418																																					p.S319A		Atlas-SNP	.											NBPF10,NS,carcinoma,-2,1	NBPF10	221	1	0			c.T955G						scavenged	.						53	36	41					1																	145299906		692	1591	2283	SO:0001583	missense	100132406	exon6			CAACTGTCCGGCT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.142T>G	1.37:g.145299906T>G	ENSP00000358344:p.Ser48Ala	Somatic	25	8	0.32		WXS	Illumina HiSeq	Phase_I	24	4	0.166667	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	0.007	-1.951406	0.00470	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09255	3.0;4.33	1.05	-0.0548	0.13812	.	.	.	.	.	T	0.00784	0.0026	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47045	-0.9147	6	0.02654	T	1	.	5.2063	0.15293	0.0:0.0:0.4021:0.5979	.	.	.	.	A	244;48;48;319	ENSP00000358344:S48A;ENSP00000345684:S319A	ENSP00000345684:S319A	S	+	1	0	NBPF10	144011263	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.175000	0.09825	-0.480000	0.06803	-0.807000	0.03187	TCC	.	.	weak		0.418	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		G	145299906	T	G	145299906	3	3	40	1	0	0	0	0	1	0	0	0	10193	1667	58	5	977	5	NBPF10	1	145299906	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	51030	145299906	103950715	7	24164										
HIST2H2BE	8349	hgsc.bcm.edu	37	chr1	149857872	149857872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggacacggcgtgcttggccaGctcgccgggcagcagcaggc	17	14	0	0	rs587684290		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:149857872G>C	ENST00000369155.2	-	1	360	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	107					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCTTGGCCAGCTCGCCGGGC	0.687																																					p.L107V		Atlas-SNP	.											.	HIST2H2BE	33	.	0			c.C319G						PASS	.						23	28	26					1																	149857872		2197	4277	6474	SO:0001583	missense	8349	exon1			TGGCCAGCTCGCC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.319C>G	1.37:g.149857872G>C	ENSP00000358151:p.Leu107Val	Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	116	51	0.439655	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565889	0.65651	.	.	ENSG00000184678	ENST00000369155	T	0.50813	0.73	5.92	5.02	0.67125	Histone-fold (2);	0.000000	0.64402	D	0.000017	T	0.53674	0.1811	H	0.97940	4.11	0.34129	D	0.665045	B	0.34226	0.443	B	0.33295	0.161	T	0.69548	-0.5116	10	0.66056	D	0.02	.	13.8428	0.63449	0.0738:0.0:0.9262:0.0	.	107	Q16778	H2B2E_HUMAN	V	107	ENSP00000358151:L107V	ENSP00000358151:L107V	L	-	1	2	HIST2H2BE	148124496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.648000	0.67930	1.519000	0.48950	0.585000	0.79938	CTG	.	.	none		0.687	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		C	149857872	G	C	149857872	3	2	40	1	0	0	0	0	1	0	0	0	7179	962	34	4	65	4	HIST2H2BE	1	149857872	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	4557966	149857872	99392749	8	24165										
RFX5	5993	hgsc.bcm.edu	37	chr1	151318690	151318690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgagtacttacgaaatggtaCctcggagcctctgaagaagg	12	8	1	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:151318690C>T	ENST00000290524.4	-	3	285	c.107G>A	c.(106-108)gGt>gAt	p.G36D	RFX5_ENST00000368870.2_Missense_Mutation_p.G36D|RFX5_ENST00000452513.2_Missense_Mutation_p.G36D|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Missense_Mutation_p.G36D	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	36	N-terminal domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAATGGTACCTCGGAGCCT	0.547																																					p.G36D		Atlas-SNP	.											.	RFX5	69	.	0			c.G107A						PASS	.						119	120	120					1																	151318690		2203	4300	6503	SO:0001583	missense	5993	exon3			ATGGTACCTCGGA		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.107G>A	1.37:g.151318690C>T	ENSP00000290524:p.Gly36Asp	Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	89	16	0.179775	NM_000449	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383663	0.82792	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774;ENST00000437327;ENST00000436271	T;T;T;T;T;T;D;D	0.82167	0.31;0.31;0.31;0.28;0.32;-0.58;-1.58;-1.58	4.98	4.98	0.66077	.	0.118290	0.56097	D	0.000027	D	0.85561	0.5725	L	0.51422	1.61	0.47547	D	0.999453	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.96	D	0.85596	0.1249	10	0.49607	T	0.09	-8.8161	13.6052	0.62044	0.0:1.0:0.0:0.0	.	36;36	B7Z848;P48382	.;RFX5_HUMAN	D	36	ENSP00000290524:G36D;ENSP00000357864:G36D;ENSP00000389130:G36D;ENSP00000398388:G36D;ENSP00000376502:G36D;ENSP00000399095:G36D;ENSP00000398666:G36D;ENSP00000409187:G36D	ENSP00000290524:G36D	G	-	2	0	RFX5	149585314	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.461000	0.66699	2.591000	0.87537	0.491000	0.48974	GGT	.	.	none		0.547	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		T	151318690	C	T	151318690	3	4	40	1	0	0	0	0	1	0	0	0	13266	507	18	2	1779	2	RFX5	1	151318690	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	1460818	151318690	97931931	9	24166										
CGN	57530	hgsc.bcm.edu	37	chr1	151508789	151508789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tatccatccagattgaagacGagcggcagcatgtcaatgac	10	10	1	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:151508789G>A	ENST00000271636.7	+	19	3407	c.3274G>A	c.(3274-3276)Gag>Aag	p.E1092K		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1086					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATTGAAGACGAGCGGCAGCA	0.473																																					p.E1092K		Atlas-SNP	.											.	CGN	106	.	0			c.G3274A						PASS	.						64	65	64					1																	151508789		2203	4300	6503	SO:0001583	missense	57530	exon19			GAAGACGAGCGGC	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3274G>A	1.37:g.151508789G>A	ENSP00000271636:p.Glu1092Lys	Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	179	37	0.206704	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793437	0.90453	.	.	ENSG00000143375	ENST00000271636	T	0.80738	-1.41	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	M	0.85197	2.74	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.90900	0.4768	10	0.87932	D	0	-26.5062	18.2859	0.90114	0.0:0.0:1.0:0.0	.	1086	Q9P2M7	CING_HUMAN	K	1092	ENSP00000271636:E1092K	ENSP00000271636:E1092K	E	+	1	0	CGN	149775413	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.054000	0.93866	2.679000	0.91253	0.655000	0.94253	GAG	.	.	none		0.473	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		A	151508789	G	A	151508789	3	1	40	1	0	0	0	0	1	0	0	0	3303	1059	37	1	3344	1	CGN	1	151508789	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	190099	151508789	97741832	10	24167										
RPTN	126638	hgsc.bcm.edu	37	chr1	152128973	152128973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	taccagagctggagtcttgaCtttgtctctctgactgatca	9	10	4	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:152128973C>A	ENST00000316073.3	-	3	666	c.602G>T	c.(601-603)aGt>aTt	p.S201I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	201	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGAGTCTTGACTTTGTCTCTC	0.453																																					p.S201I		Atlas-SNP	.											.	RPTN	123	.	0			c.G602T						PASS	.						288	250	262					1																	152128973		1568	3582	5150	SO:0001583	missense	126638	exon3			TCTTGACTTTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.602G>T	1.37:g.152128973C>A	ENSP00000317895:p.Ser201Ile	Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	270	124	0.459259	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710731	0.30322	.	.	ENSG00000215853	ENST00000316073	T	0.14022	2.54	4.43	-0.543	0.11851	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	D	0.62365	0.991	P	0.53593	0.73	T	0.31280	-0.9949	9	0.35671	T	0.21	0.1604	6.4478	0.21885	0.0:0.4361:0.0:0.5639	.	201	Q6XPR3	RPTN_HUMAN	I	201	ENSP00000317895:S201I	ENSP00000317895:S201I	S	-	2	0	RPTN	150395597	0.048000	0.20356	0.000000	0.03702	0.024000	0.10985	0.878000	0.28126	0.008000	0.14787	0.442000	0.29010	AGT	.	.	none		0.453	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		A	152128973	C	A	152128973	3	1	40	1	0	0	0	0	1	0	0	0	13664	565	20	4	1756	4	RPTN	1	152128973	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	620184	152128973	97121648	11	24168										
HRNR	388697	hgsc.bcm.edu	37	chr1	152186614	152186614	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gctccatgttggccacagctCgatgactgtcctgatgtaga	11	11	0	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																					p.S2497S		Atlas-SNP	.											HRNR,NS,carcinoma,0,1	HRNR	403	1	0			c.G7491C						scavenged	.						1	1	1					1																	152186614		84	271	355	SO:0001819	synonymous_variant	388697	exon3			ACAGCTCGATGAC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G		Somatic	616	35	0.0568182		WXS	Illumina HiSeq	Phase_I	546	44	0.0805861	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			.	.	none		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152186614	C	G	152186614	2	3	40	1	0	0	0	0	0	0	0	1	7359	871	31	4		4	HRNR	1	152186614	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	57641	152186614	97064007	12	24169										
FAM189B	10712	hgsc.bcm.edu	37	chr1	155220451	155220451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	caggccacagtccaggctgaGgcagtagccggcacggctgc	15	14	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:155220451G>A	ENST00000361361.2	-	9	1635	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_Missense_Mutation_p.L358F|FAM189B_ENST00000350210.2_Missense_Mutation_p.L280F	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	376						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCAGGCTGAGGCAGTAGCCG	0.701																																					p.L376F		Atlas-SNP	.											.	FAM189B	51	.	0			c.C1126T						PASS	.						14	17	16					1																	155220451		2171	4254	6425	SO:0001583	missense	10712	exon9			GGCTGAGGCAGTA	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1126C>T	1.37:g.155220451G>A	ENSP00000354958:p.Leu376Phe	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	37	18	0.486486	NM_006589	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397776	0.83120	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361	T;T;T	0.19669	2.13;2.41;2.41	4.21	4.21	0.49690	.	0.237014	0.27319	N	0.019901	T	0.16811	0.0404	N	0.08118	0	0.35127	D	0.767568	D;D;D;D	0.89917	1.0;0.995;0.997;0.995	D;D;D;D	0.85130	0.997;0.979;0.986;0.969	T	0.21552	-1.0242	10	0.59425	D	0.04	.	14.442	0.67323	0.0:0.0:1.0:0.0	.	141;358;280;376	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	F	280;358;376;86	ENSP00000307128:L280F;ENSP00000357352:L358F;ENSP00000354958:L376F	ENSP00000323164:L86F	L	-	1	0	FAM189B	153487075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.426000	0.66476	2.351000	0.79841	0.563000	0.77884	CTC	.	.	none		0.701	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		A	155220451	G	A	155220451	3	1	40	1	0	0	0	0	1	0	0	0	5517	1000	35	2	896	2	FAM189B	1	155220451	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	3033837	155220451	94030170	13	24170										
PMF1	9673	hgsc.bcm.edu	37	chr1	156182902	156182902	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtgccacccggcactaccatTtcgagggtgaagctcctcga	11	14	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:156182902T>C	ENST00000359511.4	+	0	3482				PMF1_ENST00000368279.3_Silent_p.I32I|PMF1_ENST00000368277.3_Silent_p.I32I|PMF1-BGLAP_ENST00000490491.1_Silent_p.I32I|PMF1-BGLAP_ENST00000320139.5_Silent_p.I32I|PMF1_ENST00000368273.4_Silent_p.I32I|PMF1-BGLAP_ENST00000368276.4_Silent_p.I32I|PMF1_ENST00000567140.1_Silent_p.I32I|PMF1_ENST00000565805.1_Silent_p.I32I	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GCACTACCATTTCGAGGGTGA	0.572																																					p.I32I		Atlas-SNP	.											.	.	.	.	0			c.T96C						PASS	.						91	84	86					1																	156182902		2203	4300	6503	SO:0001628	intergenic_variant	100527963	exon1			TACCATTTCGAGG	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182902T>C		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	97	44	0.453608	NM_001199664	O75034	Silent	SNP	ENST00000359511.4	37	CCDS1133.1																																																																																			.	.	none		0.572	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		C	156182902	T	C	156182902	1	2	40	0	1	0	0	0	0	0	0	0	12133	1829	64	2		2	PMF1	1	156182902	IGR	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	962451	156182902	93067719	14	24171										
GPATCH4	54865	hgsc.bcm.edu	37	chr1	156565049	156565049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tccctggttccaccacctaaAagtttcctcacctctatctt	3	16	3	0	rs77528517|rs72559129	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:156565049A>C	ENST00000438976.2	-	8	1114	c.1084T>G	c.(1084-1086)Ttt>Gtt	p.F362V	GPATCH4_ENST00000368232.4_Missense_Mutation_p.F357V|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	357							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCACCTAAAAGTTTCCTCA	0.507																																					p.F362V		Atlas-SNP	.											.	GPATCH4	34	.	0			c.T1084G						PASS	.						192	192	192					1																	156565049		2203	4300	6503	SO:0001583	missense	54865	exon8			ACCTAAAAGTTTC	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.1084T>G	1.37:g.156565049A>C	ENSP00000396441:p.Phe362Val	Somatic	333	0	0		WXS	Illumina HiSeq	Phase_I	280	14	0.05	NM_015590	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	CCDS44245.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.368|0.368	-0.935701|-0.935701	0.02340|0.02340	.|.	.|.	ENSG00000160818|ENSG00000160818	ENST00000368229|ENST00000368232;ENST00000438976	.|.	.|.	.|.	3.86|3.86	-2.77|-2.77	0.05877|0.05877	.|.	.|.	.|.	.|.	.|.	.|T	.|0.03220	.|0.0094	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.13594	.|0.008	.|B	.|0.14023	.|0.01	.|T	.|0.41980	.|-0.9478	.|7	.|0.02654	.|T	.|1	.|.	6.2915|6.2915	0.21063|0.21063	0.4516:0.0:0.4207:0.1278|0.4516:0.0:0.4207:0.1278	.|.	.|362	.|E9PAV9	.|.	.|V	-1|357;362	.|.	.|ENSP00000357215:F357V	.|F	-|-	.|1	.|0	GPATCH4|GPATCH4	154831673|154831673	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.130000|0.130000	0.15850|0.15850	-0.571000|-0.571000	0.06014|0.06014	-0.379000|-0.379000	0.06801|0.06801	.|TTT	A|0.333;C|0.333;G|0.333	0.333	strong		0.507	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		C	156565049	A	C	156565049	3	2	40	1	0	0	0	0	1	0	0	0	6593	14	1	5	47	5	GPATCH4	1	156565049	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	382147	156565049	92685572	15	24172										
OR6N1	128372	hgsc.bcm.edu	37	chr1	158735736	158735736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	catagaagatgagaaccacaGtgaagtgggaggcacacgtg	14	7	0	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:158735736G>A	ENST00000335094.2	-	1	756	c.737C>T	c.(736-738)aCt>aTt	p.T246I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	246						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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAGAACCACAGTGAAGTGGGA	0.532																																					p.T246I		Atlas-SNP	.											.	OR6N1	96	.	0			c.C737T						PASS	.						170	159	163					1																	158735736		2203	4300	6503	SO:0001583	missense	128372	exon1			ACCACAGTGAAGT	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.737C>T	1.37:g.158735736G>A	ENSP00000335535:p.Thr246Ile	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	94	35	0.37234	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	7.489	0.650179	0.14516	.	.	ENSG00000197403	ENST00000335094	T	0.00350	7.98	4.74	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.159979	0.30227	N	0.010102	T	0.00073	0.0002	L	0.38692	1.165	0.26491	N	0.974945	B	0.22080	0.064	B	0.22152	0.038	T	0.27191	-1.0081	10	0.38643	T	0.18	-6.181	11.135	0.48368	0.0962:0.0:0.9038:0.0	.	246	Q8NGY5	OR6N1_HUMAN	I	246	ENSP00000335535:T246I	ENSP00000335535:T246I	T	-	2	0	OR6N1	157002360	0.000000	0.05858	0.998000	0.56505	0.513000	0.34164	0.272000	0.18644	1.129000	0.42072	0.655000	0.94253	ACT	.	.	none		0.532	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		A	158735736	G	A	158735736	3	1	40	1	0	0	0	0	1	0	0	0	11206	1029	36	2	204	2	OR6N1	1	158735736	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	2170687	158735736	90514885	16	24173										
UAP1	6675	hgsc.bcm.edu	37	chr1	162560143	162560143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtatatgaagtattgcgagaAgatgagttttccccactaaa	9	6	0	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:162560143A>T	ENST00000367925.1	+	7	1232	c.1200A>T	c.(1198-1200)gaA>gaT	p.E400D	UAP1_ENST00000367924.1_Missense_Mutation_p.E400D|UAP1_ENST00000271469.3_Missense_Mutation_p.E400D|RP11-359K18.4_ENST00000609669.1_RNA|UAP1_ENST00000367926.4_Missense_Mutation_p.E400D			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	400					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TATTGCGAGAAGATGAGTTTT	0.408																																					p.E400D		Atlas-SNP	.											UAP1,NS,carcinoma,0,1	UAP1	47	1	0			c.A1200T						scavenged	.						186	180	182					1																	162560143		2203	4300	6503	SO:0001583	missense	6675	exon8			GCGAGAAGATGAG	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1200A>T	1.37:g.162560143A>T	ENSP00000356902:p.Glu400Asp	Somatic	222	0	0		WXS	Illumina HiSeq	Phase_I	172	4	0.0232558	NM_003115	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37		.	.	.	.	.	.	.	.	.	.	A	17.86	3.491783	0.64074	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.93	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	L	0.60067	1.865	0.48975	D	0.999737	B	0.29136	0.234	B	0.37989	0.262	T	0.14392	-1.0474	9	0.33940	T	0.23	-30.3462	5.911	0.19029	0.7288:0.0:0.2712:0.0	.	400	Q16222-2	.	D	400	ENSP00000356903:E400D;ENSP00000271469:E400D;ENSP00000356902:E400D;ENSP00000356901:E400D	ENSP00000271469:E400D	E	+	3	2	UAP1	160826767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.324000	0.43831	0.921000	0.36994	0.533000	0.62120	GAA	.	.	none		0.408	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		T	162560143	A	T	162560143	3	4	40	1	0	0	0	0	1	0	0	0	16822	69	3	5	1226	5	UAP1	1	162560143	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	3824407	162560143	86690478	17	24174										
HMCN1	83872	hgsc.bcm.edu	37	chr1	186007087	186007087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	accacctagtctggaagatgCtggaaaaatgctgaatgaga	11	7	1	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:186007087C>G	ENST00000271588.4	+	37	6000	c.5771C>G	c.(5770-5772)gCt>gGt	p.A1924G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1924G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1924	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGAAGATGCTGGAAAAATG	0.383																																					p.A1924G		Atlas-SNP	.											.	HMCN1	797	.	0			c.C5771G						PASS	.						135	127	130					1																	186007087		2203	4300	6503	SO:0001583	missense	83872	exon37			AAGATGCTGGAAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5771C>G	1.37:g.186007087C>G	ENSP00000271588:p.Ala1924Gly	Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	88	16	0.181818	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	2.881	-0.231818	0.05983	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66099	-0.18;-0.19	5.52	4.6	0.57074	Immunoglobulin-like (1);	0.233532	0.43747	N	0.000525	T	0.35913	0.0948	N	0.01705	-0.755	0.37687	D	0.923692	B	0.09022	0.002	B	0.09377	0.004	T	0.22871	-1.0204	10	0.18710	T	0.47	.	16.2196	0.82251	0.0:0.867:0.133:0.0	.	1924	Q96RW7	HMCN1_HUMAN	G	1924	ENSP00000271588:A1924G;ENSP00000356462:A1924G	ENSP00000271588:A1924G	A	+	2	0	HMCN1	184273710	0.820000	0.29190	0.096000	0.21009	0.007000	0.05969	3.307000	0.51888	1.306000	0.44926	0.555000	0.69702	GCT	.	.	none		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186007087	C	G	186007087	3	3	40	1	0	0	0	0	1	0	0	0	7220	797	28	4	5917	4	HMCN1	1	186007087	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	23446944	186007087	63243534	18	24175										
BTG2	7832	hgsc.bcm.edu	37	chr1	203274827	203274827	+	Missense_Mutation	SNP	C	C	G													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggacccggggctgcgtgagCgagcagaggcttaaggtctt							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:203274827C>G	ENST00000290551.4	+	1	164	c.93C>G	c.(91-93)agC>agG	p.S31R	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	31					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCTGCGTGAGCGAGCAGAGGC	0.711																																					p.S31R		Atlas-SNP	.											.	BTG2	16	.	0			c.C93G						PASS	.						16	16	16					1																	203274827		2157	4235	6392	SO:0001583	missense	7832	exon1			CGTGAGCGAGCAG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.93C>G	1.37:g.203274827C>G	ENSP00000290551:p.Ser31Arg	Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	66	13	0.19697	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683961	0.47991	.	.	ENSG00000159388	ENST00000290551	T	0.23754	1.89	4.66	3.75	0.43078	Anti-proliferative protein (3);	0.175253	0.47455	D	0.000221	T	0.26304	0.0642	L	0.59436	1.845	0.37789	D	0.92728	B	0.16802	0.019	B	0.28916	0.096	T	0.14980	-1.0453	10	0.54805	T	0.06	-0.1987	7.4459	0.27211	0.0:0.7394:0.1689:0.0917	.	31	P78543	BTG2_HUMAN	R	31	ENSP00000290551:S31R	ENSP00000290551:S31R	S	+	3	2	BTG2	201541450	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	0.692000	0.25482	1.191000	0.43056	0.478000	0.44815	AGC	.	.	none		0.711	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		G	203274827	C	G	203274827	3	3	40	1	0	0	0	0	1	0	0	0	1554	767	27	4	95	4	BTG2	1	203274827	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	17267740	203274827	45975794	19	24176	499	2								
BTG2	7832	hgsc.bcm.edu	37	chr1	203274831	203274831	+	Missense_Mutation	SNP	C	C	A													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cccggggctgcgtgagcgagCagaggcttaaggtcttcagc					rs530501274		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:203274831C>A	ENST00000290551.4	+	1	168	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	33					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CGTGAGCGAGCAGAGGCTTAA	0.706																																					p.Q33K		Atlas-SNP	.											.	BTG2	16	.	0			c.C97A						PASS	.						15	16	16					1																	203274831		2150	4221	6371	SO:0001583	missense	7832	exon1			AGCGAGCAGAGGC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.97C>A	1.37:g.203274831C>A	ENSP00000290551:p.Gln33Lys	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	66	41	0.621212	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070481	0.55539	.	.	ENSG00000159388	ENST00000290551	T	0.22134	1.97	4.66	3.72	0.42706	Anti-proliferative protein (3);	0.270105	0.31145	N	0.008179	T	0.17959	0.0431	L	0.45581	1.43	0.42010	D	0.99093	B	0.24533	0.105	B	0.26094	0.066	T	0.05099	-1.0906	10	0.28530	T	0.3	-10.9891	8.7243	0.34460	0.1715:0.6626:0.1659:0.0	.	33	P78543	BTG2_HUMAN	K	33	ENSP00000290551:Q33K	ENSP00000290551:Q33K	Q	+	1	0	BTG2	201541454	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	2.921000	0.48852	1.144000	0.42321	0.478000	0.44815	CAG	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		A	203274831	C	A	203274831	3	1	40	1	0	0	0	0	1	0	0	0	1554	711	25	4	99	4	BTG2	1	203274831	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	4	203274831	45975790	20	24177	499	2								
BTG2	7832	hgsc.bcm.edu	37	chr1	203274867	203274867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tcagcggggcgctccaggagGcactcacaggtgagcgcatg	16	12	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:203274867G>C	ENST00000290551.4	+	1	204	c.133G>C	c.(133-135)Gca>Cca	p.A45P	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	45					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A45T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCTCCAGGAGGCACTCACAGG	0.706																																					p.A45P		Atlas-SNP	.											BTG2,lymph_node,lymphoid_neoplasm,-1,2	BTG2	16	2	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G133C						PASS	.						11	13	13					1																	203274867		2020	3950	5970	SO:0001583	missense	7832	exon1			CAGGAGGCACTCA		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.133G>C	1.37:g.203274867G>C	ENSP00000290551:p.Ala45Pro	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	53	14	0.264151	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163593	0.78226	.	.	ENSG00000159388	ENST00000290551	T	0.25085	1.82	4.4	4.4	0.53042	Anti-proliferative protein (3);	0.078518	0.49916	D	0.000121	T	0.52008	0.1708	M	0.82630	2.6	0.47374	D	0.999406	D	0.62365	0.991	D	0.64687	0.928	T	0.58222	-0.7674	10	0.51188	T	0.08	-33.413	15.7078	0.77598	0.0:0.0:1.0:0.0	.	45	P78543	BTG2_HUMAN	P	45	ENSP00000290551:A45P	ENSP00000290551:A45P	A	+	1	0	BTG2	201541490	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	4.326000	0.59241	2.282000	0.76494	0.471000	0.43371	GCA	.	.	none		0.706	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		C	203274867	G	C	203274867	3	2	40	1	0	0	0	0	1	0	0	0	1554	1203	42	4	135	4	BTG2	1	203274867	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	36	203274867	45975754	21	24178										
ITPKB	3707	hgsc.bcm.edu	37	chr1	226925103	226925103	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gggccgccgccgctcttcatCtcgttggcgctattcatgat	11	14	4	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr1:226925103C>T	ENST00000272117.3	-	1	56	c.57G>A	c.(55-57)gaG>gaA	p.E19E	ITPKB_ENST00000429204.1_Silent_p.E19E|ITPKB_ENST00000366784.1_Silent_p.E19E			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	19					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CGCTCTTCATCTCGTTGGCGC	0.697																																					p.E19E	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											ITPKB_ENST00000429204,scalp,carcinoma,-2,1	ITPKB	158	1	0			c.G57A						PASS	.						15	18	17					1																	226925103		2084	4139	6223	SO:0001819	synonymous_variant	3707	exon2			CTTCATCTCGTTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.57G>A	1.37:g.226925103C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	39	13	0.333333	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																			.	.	none		0.697	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		T	226925103	C	T	226925103	2	4	40	1	0	0	0	0	0	0	0	1	7918	912	32	2		2	ITPKB	1	226925103	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	23650236	226925103	22325518	22	24179										
C2orf71	388939	hgsc.bcm.edu	37	chr2	29296353	29296353	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atttggctgctcctggggctCtcttttcttcaaaggccaag	10	11	3	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:29296353C>T	ENST00000331664.5	-	1	774	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	259					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTGGGGCTCTCTTTTCTTC	0.562																																					p.E259K		Atlas-SNP	.											.	C2orf71	146	.	0			c.G775A						PASS	.						64	66	65					2																	29296353		1984	4173	6157	SO:0001583	missense	388939	exon1			GGGGCTCTCTTTT		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.775G>A	2.37:g.29296353C>T	ENSP00000332809:p.Glu259Lys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	53	8	0.150943	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581641	0.28180	.	.	ENSG00000179270	ENST00000331664	T	0.21932	1.98	5.62	5.62	0.85841	.	0.385689	0.28560	N	0.014902	T	0.22627	0.0546	L	0.45581	1.43	0.09310	N	1	P	0.39022	0.655	B	0.34452	0.183	T	0.13202	-1.0518	10	0.51188	T	0.08	-17.6579	19.6596	0.95859	0.0:1.0:0.0:0.0	.	259	A6NGG8	CB071_HUMAN	K	259	ENSP00000332809:E259K	ENSP00000332809:E259K	E	-	1	0	C2orf71	29149857	0.502000	0.26107	0.409000	0.26459	0.181000	0.23173	1.766000	0.38491	2.648000	0.89879	0.561000	0.74099	GAG	.	.	none		0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		T	29296353	C	T	29296353	3	4	40	1	0	0	0	0	1	0	0	0	2191	922	32	2	3099	2	C2orf71	2	29296353	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		29296353	213903020	23	24180										
PIGF	5281	hgsc.bcm.edu	37	chr2	46839367	46839367	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aatataaaattaaaacttacCcatttctactgaacactctt	1	9	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:46839367C>T	ENST00000281382.6	-	4	607	c.437G>A	c.(436-438)gGa>gAa	p.G146E	PIGF_ENST00000306465.4_Splice_Site_p.G146E|PIGF_ENST00000495933.1_5'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	146					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			taaaaCTTACCCATTTCTACT	0.284																																					p.G146E		Atlas-SNP	.											.	PIGF	9	.	0			c.G437A						PASS	.						15	13	14					2																	46839367		2052	4024	6076	SO:0001630	splice_region_variant	5281	exon4			ACTTACCCATTTC		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.437+1G>A	2.37:g.46839367C>T		Somatic	309	1	0.00323625		WXS	Illumina HiSeq	Phase_I	206	81	0.393204	NM_002643	Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693759	0.88735	.	.	ENSG00000151665	ENST00000281382;ENST00000306465	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.72982	0.979;0.895	T	0.76892	-0.2791	8	.	.	.	-9.518	19.9893	0.97361	0.0:1.0:0.0:0.0	.	146;146	Q07326;Q07326-2	PIGF_HUMAN;.	E	146	.	.	G	-	2	0	PIGF	46692871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.336000	0.72954	2.826000	0.97356	0.563000	0.77884	GGA	.	.	none		0.284	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074	Missense_Mutation	T	46839367	C	T	46839367	5	4	40	1	0	0	0	0	0	0	1	0	11887	637	22	2	313	2	PIGF	2	46839367	Splice_Site	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	17543014	46839367	196360006	24	24181										
BCL11A	53335	hgsc.bcm.edu	37	chr2	60688036	60688036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tccgaagctaaggaagggatCtttgagctgcctggaggccg	15	9	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:60688036C>T	ENST00000335712.6	-	4	2238	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	BCL11A_ENST00000538214.1_Missense_Mutation_p.D637N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.D637N|BCL11A_ENST00000537768.1_Missense_Mutation_p.D340N|BCL11A_ENST00000356842.4_Missense_Mutation_p.D671N|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	671					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGAAGGGATCTTTGAGCTGC	0.637			T	IGH@	B-CLL																																p.D671N		Atlas-SNP	.		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	BCL11A	298	.	0			c.G2011A						PASS	.						39	48	45					2																	60688036		2202	4295	6497	SO:0001583	missense	53335	exon4			AGGGATCTTTGAG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2011G>A	2.37:g.60688036C>T	ENSP00000338774:p.Asp671Asn	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	7	0.102941	NM_018014	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768661	0.49680	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.13307	2.6;3.28;2.72;3.32;3.23	5.93	5.93	0.95920	.	0.125598	0.51477	D	0.000100	T	0.30070	0.0753	L	0.50333	1.59	0.58432	D	0.999998	D;P;P;P;D	0.61697	0.99;0.805;0.61;0.947;0.969	P;B;B;P;P	0.61940	0.794;0.26;0.328;0.798;0.896	T	0.00677	-1.1614	10	0.16896	T	0.51	-2.2696	20.3465	0.98790	0.0:1.0:0.0:0.0	.	637;340;637;671;671	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	N	671;696;637;340;671;637	ENSP00000349300:D671N;ENSP00000438303:D637N;ENSP00000443712:D340N;ENSP00000338774:D671N;ENSP00000351307:D637N	ENSP00000338774:D671N	D	-	1	0	BCL11A	60541540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	GAT	.	.	none		0.637	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		T	60688036	C	T	60688036	3	4	40	1	0	0	0	0	1	0	0	0	1363	913	32	2	606	2	BCL11A	2	60688036	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	13848669	60688036	182511337	25	24182										
ETAA1	54465	hgsc.bcm.edu	37	chr2	67631813	67631813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agacatcagaaagtatatgtGagatcaataataattccgaa	7	5	2	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:67631813G>A	ENST00000272342.5	+	5	2129	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	667						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						AAGTATATGTGAGATCAATAA	0.343																																					p.E667K		Atlas-SNP	.											.	ETAA1	88	.	0			c.G1999A						PASS	.						83	88	86					2																	67631813		2202	4295	6497	SO:0001583	missense	54465	exon5			ATATGTGAGATCA	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.1999G>A	2.37:g.67631813G>A	ENSP00000272342:p.Glu667Lys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	100	42	0.42	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	-	11.45	1.642910	0.29246	.	.	ENSG00000143971	ENST00000272342	T	0.18960	2.18	4.65	-1.19	0.09585	.	1.031440	0.07617	N	0.926447	T	0.12603	0.0306	L	0.41236	1.265	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.38090	-0.9677	10	0.02654	T	1	-1.0365	5.2166	0.15346	0.4149:0.148:0.4372:0.0	.	667	Q9NY74	ETAA1_HUMAN	K	667	ENSP00000272342:E667K	ENSP00000272342:E667K	E	+	1	0	ETAA1	67485317	0.362000	0.24980	0.000000	0.03702	0.424000	0.31475	0.779000	0.26746	-0.078000	0.12730	0.467000	0.42956	GAG	.	.	none		0.343	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		A	67631813	G	A	67631813	3	1	40	1	0	0	0	0	1	0	0	0	5267	1291	45	2	2017	2	ETAA1	2	67631813	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	6943777	67631813	175567560	26	24183										
POU3F3	5455	hgsc.bcm.edu	37	chr2	105473228	105473228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gaggtgagcgtcaagggcgcGctggagagccacttcctcaa	15	11	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:105473228G>A	ENST00000361360.2	+	1	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	420					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAAGGGCGCGCTGGAGAGCC	0.657																																					p.A420A		Atlas-SNP	.											.	POU3F3	43	.	0			c.G1260A						PASS	.						36	37	37					2																	105473228		2203	4300	6503	SO:0001819	synonymous_variant	5455	exon1			GGGCGCGCTGGAG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1260G>A	2.37:g.105473228G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	87	33	0.37931	NM_006236	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																			.	.	none		0.657	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			A	105473228	G	A	105473228	2	1	40	1	0	0	0	0	0	0	0	1	12276	1074	38	1		1	POU3F3	2	105473228	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	37841415	105473228	137726145	27	24184										
RGPD4	285190	hgsc.bcm.edu	37	chr2	108443536	108443536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agggctccgccccgtcgcctCgaaaggtgagtggatctcga	14	13	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:108443536C>G	ENST00000408999.3	+	1	144	c.67C>G	c.(67-69)Cga>Gga	p.R23G	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.R23G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	23					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCCGTCGCCTCGAAAGGTGAG	0.701																																					p.R23G		Atlas-SNP	.											RGPD4,caecum,carcinoma,-1,1	RGPD4	112	1	0			c.C67G						scavenged	.						44	61	56					2																	108443536		692	1591	2283	SO:0001583	missense	285190	exon1			TCGCCTCGAAAGG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.67C>G	2.37:g.108443536C>G	ENSP00000386810:p.Arg23Gly	Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	138	2	0.0144928	NM_182588	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.319	-0.963323	0.02249	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.41065	1.01;1.01	2.33	1.42	0.22433	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.22666	0.0547	L	0.33485	1.01	0.09310	N	1	D	0.52996	0.957	B	0.30251	0.113	T	0.10109	-1.0644	9	0.51188	T	0.08	-2.4203	7.0687	0.25167	0.4799:0.5201:0.0:0.0	.	23	Q7Z3J3	RGPD4_HUMAN	G	23	ENSP00000347081:R23G;ENSP00000386810:R23G	ENSP00000347081:R23G	R	+	1	2	RGPD4	107809968	0.670000	0.27512	0.021000	0.16686	0.002000	0.02628	0.784000	0.26816	0.094000	0.17404	-1.276000	0.01395	CGA	.	.	none		0.701	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		G	108443536	C	G	108443536	3	3	40	1	0	0	0	0	1	0	0	0	13288	876	31	4	69	4	RGPD4	2	108443536	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	2970308	108443536	134755837	28	24185										
LRP2	4036	hgsc.bcm.edu	37	chr2	170060578	170060578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggttcttcacaacagtgttgAttcccctgggctgggagagc	13	10	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:170060578A>G	ENST00000263816.3	-	42	8204	c.7919T>C	c.(7918-7920)aTc>aCc	p.I2640T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2640					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)"	AACAGTGTTGATTCCCCTGGG	0.463																																					p.I2640T		Atlas-SNP	.											.	LRP2	751	.	0			c.T7919C						PASS	.						186	189	188					2																	170060578		2203	4300	6503	SO:0001583	missense	4036	exon42			GTGTTGATTCCCC		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.7919T>C	2.37:g.170060578A>G	ENSP00000263816:p.Ile2640Thr	Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	151	84	0.556291	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906247	0.52333	.	.	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.163861	0.52532	D	0.000062	D	0.94548	0.8244	H	0.97340	3.985	0.80722	D	1	P	0.47762	0.9	B	0.43225	0.412	D	0.95521	0.8594	10	0.51188	T	0.08	.	15.7383	0.77863	1.0:0.0:0.0:0.0	.	2640	P98164	LRP2_HUMAN	T	2640	ENSP00000263816:I2640T	ENSP00000263816:I2640T	I	-	2	0	LRP2	169768824	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	9.238000	0.95380	2.116000	0.64780	0.533000	0.62120	ATC	.	.	none		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170060578	A	G	170060578	3	3	40	1	0	0	0	0	1	0	0	0	8956	333	12	2	6200	2	LRP2	2	170060578	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	61617042	170060578	73138795	29	24186										
MFSD6	54842	hgsc.bcm.edu	37	chr2	191301341	191301341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tcaccatatcaccaaaaatgCgtgagaaaagaaaccttttg	6	9	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:191301341C>T	ENST00000392328.1	+	3	910	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	MFSD6_ENST00000281416.7_Missense_Mutation_p.R196C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	196					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAAAAATGCGTGAGAAAAG	0.458																																					p.R196C		Atlas-SNP	.											MFSD6,caecum,carcinoma,0,1	MFSD6	58	1	0			c.C586T						PASS	.						76	83	81					2																	191301341		2203	4300	6503	SO:0001583	missense	54842	exon3			AAAATGCGTGAGA		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.586C>T	2.37:g.191301341C>T	ENSP00000376141:p.Arg196Cys	Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	99	63	0.636364	NM_017694	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221465	0.22457	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.35048	1.33;1.33	5.39	3.57	0.40892	Major facilitator superfamily domain, general substrate transporter (1);	0.219617	0.41605	D	0.000844	T	0.37758	0.1015	L	0.48642	1.525	0.41426	D	0.987836	D	0.71674	0.998	P	0.49528	0.614	T	0.18272	-1.0342	10	0.54805	T	0.06	-5.0941	10.2208	0.43196	0.154:0.6982:0.1478:0.0	.	196	Q6ZSS7	MFSD6_HUMAN	C	196	ENSP00000376141:R196C;ENSP00000281416:R196C	ENSP00000281416:R196C	R	+	1	0	MFSD6	191009586	0.045000	0.20229	0.002000	0.10522	0.075000	0.17131	1.907000	0.39897	0.823000	0.34589	-0.133000	0.14855	CGT	.	.	none		0.458	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			T	191301341	C	T	191301341	3	4	40	1	0	0	0	0	1	0	0	0	9535	768	27	1	588	1	MFSD6	2	191301341	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	21240763	191301341	51898032	30	24187										
STAT4	6775	hgsc.bcm.edu	37	chr2	191905872	191905872	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tcttcagtcaccatgtgacaGccctaaggaagagagaaata	9	9	3	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:191905872G>T	ENST00000392320.2	-	15	1568	c.1254C>A	c.(1252-1254)ggC>ggA	p.G418G	STAT4_ENST00000358470.4_Silent_p.G418G|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	418					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G418G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCATGTGACAGCCCTAAGGAA	0.333																																					p.G418G		Atlas-SNP	.											STAT4,rectum,carcinoma,0,1	STAT4	85	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C1254A						PASS	.						103	97	99					2																	191905872		2203	4300	6503	SO:0001819	synonymous_variant	6775	exon15			GTGACAGCCCTAA		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1254C>A	2.37:g.191905872G>T		Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	158	32	0.202532	NM_001243835	Q96NZ6	Silent	SNP	ENST00000392320.2	37	CCDS2310.1																																																																																			.	.	none		0.333	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		T	191905872	G	T	191905872	2	4	40	1	0	0	0	0	0	0	0	1	15266	958	34	4		4	STAT4	2	191905872	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	604531	191905872	51293501	31	24188										
ERBB4	2066	hgsc.bcm.edu	37	chr2	212587162	212587162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctccatatgtgtactttgcaTtgaaattgtgctccagttga	8	8	0	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:212587162T>G	ENST00000342788.4	-	7	1149	c.839A>C	c.(838-840)aAt>aCt	p.N280T	ERBB4_ENST00000402597.1_Missense_Mutation_p.N280T|ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000436443.1_Missense_Mutation_p.N280T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	280	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTACTTTGCATTGAAATTGTG	0.378										TSP Lung(8;0.080)																											p.N280T		Atlas-SNP	.											.	ERBB4	480	.	0			c.A839C						PASS	.						180	164	170					2																	212587162		2203	4300	6503	SO:0001583	missense	2066	exon7			TTTGCATTGAAAT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.839A>C	2.37:g.212587162T>G	ENSP00000342235:p.Asn280Thr	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	128	21	0.164062	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.476435|2.476435	0.44044|0.44044	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.28255	.|1.62;1.62;1.62	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.175798	.|0.64402	.|D	.|0.000007	T|T	0.44519|0.44519	0.1297|0.1297	L|L	0.58428|0.58428	1.81|1.81	0.37517|0.37517	D|D	0.917396|0.917396	.|B;B;B;B;B	.|0.26635	.|0.021;0.15;0.155;0.021;0.026	.|B;B;B;B;B	.|0.43386	.|0.03;0.418;0.257;0.03;0.056	T|T	0.47005|0.47005	-0.9150|-0.9150	5|10	.|0.35671	.|T	.|0.21	.|.	16.1946|16.1946	0.82018|0.82018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|280;280;139;280;280	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	L|T	280|280	.|ENSP00000342235:N280T;ENSP00000403204:N280T;ENSP00000385565:N280T	.|ENSP00000342235:N280T	M|N	-|-	1|2	0|0	ERBB4|ERBB4	212295407|212295407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	6.018000|6.018000	0.70811|0.70811	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	ATG|AAT	.	.	none		0.378	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		G	212587162	T	G	212587162	3	3	40	1	0	0	0	0	1	0	0	0	5209	1493	52	5	3175	5	ERBB4	2	212587162	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	20681290	212587162	30612211	32	24189										
GBX2	2637	hgsc.bcm.edu	37	chr2	237076128	237076128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cgtctcggccgcggagaaggCgagcagcgagccctctttgg	16	13	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr2:237076128C>T	ENST00000306318.4	-	1	884	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GBX2_ENST00000551105.1_Missense_Mutation_p.A163T|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	163				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCGGAGAAGGCGAGCAGCGAG	0.756																																					p.A163T		Atlas-SNP	.											.	GBX2	20	.	0			c.G487A						PASS	.						13	13	13					2																	237076128		2138	4210	6348	SO:0001583	missense	2637	exon1			AGAAGGCGAGCAG	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.487G>A	2.37:g.237076128C>T	ENSP00000302251:p.Ala163Thr	Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	38	18	0.473684	NM_001485	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940228	0.52972	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.91894	-2.93	4.6	2.48	0.30137	.	0.334685	0.28360	N	0.015636	T	0.79112	0.4391	N	0.08118	0	0.32887	D	0.511398	B;B	0.30824	0.296;0.146	B;B	0.22601	0.04;0.011	T	0.77955	-0.2393	10	0.33141	T	0.24	-9.731	8.0352	0.30488	0.384:0.4985:0.1175:0.0	.	163;163	F8VY47;P52951	.;GBX2_HUMAN	T	163	ENSP00000302251:A163T	ENSP00000302251:A163T	A	-	1	0	GBX2	236740867	0.032000	0.19561	1.000000	0.80357	0.974000	0.67602	0.010000	0.13242	0.890000	0.36211	0.462000	0.41574	GCC	.	.	none		0.756	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		T	237076128	C	T	237076128	3	4	40	1	0	0	0	0	1	0	0	0	6281	768	27	1	567	1	GBX2	2	237076128	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	24488966	237076128	6123245	33	24190										
NGLY1	55768	hgsc.bcm.edu	37	chr3	25781094	25781094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aatcgattgctgaactggcaGgcatcacagtaatgatcttc	9	9	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:25781094G>A	ENST00000280700.5	-	5	1015	c.855C>T	c.(853-855)gcC>gcT	p.A285A	NGLY1_ENST00000417874.2_Silent_p.A243A|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000428257.1_Silent_p.A285A|NGLY1_ENST00000396649.3_Silent_p.A285A	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	285					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGAACTGGCAGGCATCACAGT	0.423																																					p.A285A		Atlas-SNP	.											.	NGLY1	57	.	0			c.C855T						PASS	.						154	121	132					3																	25781094		2203	4300	6503	SO:0001819	synonymous_variant	55768	exon5			CTGGCAGGCATCA	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.855C>T	3.37:g.25781094G>A		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	155	14	0.0903226	NM_018297	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	CCDS33719.1																																																																																			.	.	none		0.423	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			A	25781094	G	A	25781094	2	1	40	1	0	0	0	0	0	0	0	1	10398	987	35	2		2	NGLY1	3	25781094	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		25781094	172241336	34	24191										
MYD88	4615	hgsc.bcm.edu	37	chr3	38182641	38182641	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggtgcccatcagaagcgacTgatccccatcaagtacaagg	10	12	2	2	rs387907272		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:38182641T>C	ENST00000495303.1	+	3	483	c.478T>C	c.(478-480)Tga>Cga	p.*160R	MYD88_ENST00000424893.1_Missense_Mutation_p.L220P|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R|MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.L265P(188)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAAGCGACTGATCCCCATC	0.552			Mis		ABC-DLBCL								T|||	1	0.000199681	0.0	0.0	5008	,	,		22034	0.0		0.001	False		,,,				2504	0.0				p.X205R		Atlas-SNP	.		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	MYD88,NS,lymphoid_neoplasm,0,828	MYD88	900	828	188	Substitution - Missense(188)	haematopoietic_and_lymphoid_tissue(188)	c.T613C						PASS	.						148	119	129					3																	38182641		2203	4300	6503	SO:0001578	stop_lost	4615	exon4			AGCGACTGATCCC	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.478T>C	3.37:g.38182641T>C	ENSP00000417848:p.*160Argext*8	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	92	76	0.826087	NM_001172569	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000495303.1	37	CCDS54568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.710754|3.710754	0.68730|0.68730	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.15487|.	2.42;2.42;2.42;2.42|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71676|.	0.3368|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.70626|.	-0.4820|.	9|.	0.87932|.	D|.	0|.	-17.9268|-17.9268	15.535|15.535	0.75996|0.75996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207;252;241|.	Q99836-2;Q99836;B4E3D6|.	.;MYD88_HUMAN;.|.	P|R	273;265;220;272;241|160;205	ENSP00000401399:L273P;ENSP00000379625:L265P;ENSP00000389979:L220P;ENSP00000391753:L272P|.	ENSP00000379625:L265P|.	L|X	+|+	2|1	0|0	MYD88|MYD88	38157645|38157645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.639000|7.639000	0.83342|0.83342	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CTG|TGA	.	.	none		0.552	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000342700.1	NM_002468		C	38182641	T	C	38182641	4	2	40	1	0	0	0	0	0	0	0	0	10023	1593	55	3	836	3	MYD88	3	38182641	Nonstop_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	12401547	38182641	159839789	35	24192										
CACNA2D3	55799	hgsc.bcm.edu	37	chr3	54798316	54798316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aataccttcacgtgcttagcCggcccaaagtcatcgaccag	8	14	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:54798316C>T	ENST00000474759.1	+	13	1366	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R440W|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R346W|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R440W	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	440						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CGTGCTTAGCCGGCCCAAAGT	0.517																																					p.R440W		Atlas-SNP	.											CACNA2D3,caecum,carcinoma,-2,1	CACNA2D3	159	1	0			c.C1318T						PASS	.						136	132	133					3																	54798316		2065	4199	6264	SO:0001583	missense	55799	exon13			CTTAGCCGGCCCA	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1318C>T	3.37:g.54798316C>T	ENSP00000419101:p.Arg440Trp	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	46	12	0.26087	NM_018398	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857144	0.91433	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.14391	2.51;2.51;2.51;2.56	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	T	0.03296	-1.1051	10	0.87932	D	0	.	16.492	0.84203	0.1322:0.8678:0.0:0.0	.	440	Q8IZS8	CA2D3_HUMAN	W	440;440;440;346;346;345	ENSP00000389506:R440W;ENSP00000419101:R440W;ENSP00000288197:R440W;ENSP00000417279:R346W	ENSP00000288197:R440W	R	+	1	2	CACNA2D3	54773356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.348000	0.59379	1.502000	0.48669	0.650000	0.86243	CGG	.	.	none		0.517	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			T	54798316	C	T	54798316	3	4	40	1	0	0	0	0	1	0	0	0	2550	643	23	1	1368	1	CACNA2D3	3	54798316	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	16615675	54798316	143224114	36	24193										
MAGI1	9223	hgsc.bcm.edu	37	chr3	65415776	65415776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	caacttgagcatgtgtgtgtCccaaaacacaggtgtcattc	9	10	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:65415776C>T	ENST00000497477.2	-	12	1585	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	MAGI1_ENST00000483466.1_Missense_Mutation_p.G529E|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G529E|MAGI1_ENST00000330909.8_Missense_Mutation_p.G529E			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	529	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		ATGTGTGTGTCCCAAAACACA	0.468																																					p.G529E		Atlas-SNP	.											.	MAGI1	481	.	0			c.G1586A						PASS	.						87	72	77					3																	65415776		2203	4300	6503	SO:0001583	missense	9223	exon12			GTGTGTCCCAAAA	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.1586G>A	3.37:g.65415776C>T	ENSP00000424369:p.Gly529Glu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	49	30	0.612245	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.210525|5.210525	0.95069|0.95069	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.54479	.|0.57;0.57;0.57;0.57;0.57;0.57	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78375|0.78375	0.4273|0.4273	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;1.0	T|T	0.80271|0.80271	-0.1452|-0.1452	5|10	.|0.66056	.|D	.|0.02	-12.8008|-12.8008	20.3065|20.3065	0.98633|0.98633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|529;529;529;529;529	.|Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	N|E	410|529;529;425;404;529;529;315	.|ENSP00000385450:G529E;ENSP00000331157:G529E;ENSP00000418177:G404E;ENSP00000420323:G529E;ENSP00000424369:G529E;ENSP00000420796:G315E	.|ENSP00000331157:G529E	D|G	-|-	1|2	0|0	MAGI1|MAGI1	65390816|65390816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.809000|2.809000	0.96659|0.96659	0.650000|0.650000	0.86243|0.86243	GAC|GGA	.	.	none		0.468	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65415776	C	T	65415776	3	4	40	1	0	0	0	0	1	0	0	0	9190	855	30	2	3084	2	MAGI1	3	65415776	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	10617460	65415776	132606654	37	24194										
CHMP2B	25978	hgsc.bcm.edu	37	chr3	87295015	87295015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tacacaaacaaaagtgatgaAttcccaaatgaagatggctg	8	7	0	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:87295015A>G	ENST00000263780.4	+	3	516	c.278A>G	c.(277-279)aAt>aGt	p.N93S	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Missense_Mutation_p.N52S|CHMP2B_ENST00000494980.1_Intron	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	93					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAAGTGATGAATTCCCAAATG	0.323																																					p.N93S		Atlas-SNP	.											.	CHMP2B	28	.	0			c.A278G						PASS	.						81	87	85					3																	87295015		2203	4300	6503	SO:0001583	missense	25978	exon3			TGATGAATTCCCA	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.278A>G	3.37:g.87295015A>G	ENSP00000263780:p.Asn93Ser	Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	159	27	0.169811	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983107	0.34942	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.71817	-0.6;-0.6	5.02	5.02	0.67125	.	0.142259	0.64402	D	0.000006	T	0.57755	0.2075	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.52411	-0.8579	10	0.18710	T	0.47	-9.1359	9.2981	0.37829	0.9186:0.0:0.0814:0.0	.	52;93	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	S	52;93	ENSP00000419998:N52S;ENSP00000263780:N93S	ENSP00000263780:N93S	N	+	2	0	CHMP2B	87377705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.039000	0.70972	1.861000	0.53984	0.533000	0.62120	AAT	.	.	none		0.323	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		G	87295015	A	G	87295015	3	3	40	1	0	0	0	0	1	0	0	0	3355	101	4	2	288	2	CHMP2B	3	87295015	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	21879239	87295015	110727415	38	24195										
IGSF11	152404	hgsc.bcm.edu	37	chr3	118649074	118649074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctgctggctgaccccgggccAcctggatactcccagggctc	12	17	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:118649074A>G	ENST00000393775.2	-	2	406	c.101T>C	c.(100-102)gTg>gCg	p.V34A	IGSF11_ENST00000441144.2_Missense_Mutation_p.V33A|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Missense_Mutation_p.V34A|IGSF11_ENST00000491903.1_Missense_Mutation_p.V34A|IGSF11_ENST00000425327.2_Missense_Mutation_p.V33A|IGSF11_ENST00000354673.2_Missense_Mutation_p.V33A	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	34	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCCCGGGCCACCTGGATACT	0.557																																					p.V34A		Atlas-SNP	.											.	IGSF11	122	.	0			c.T101C						PASS	.						104	104	104					3																	118649074		2203	4300	6503	SO:0001583	missense	152404	exon2			CGGGCCACCTGGA	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.101T>C	3.37:g.118649074A>G	ENSP00000377370:p.Val34Ala	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	66	14	0.212121	NM_001015887	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357979	0.82243	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	L	0.37697	1.125	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.99;0.997;0.998;0.994	T	0.69045	-0.5249	10	0.23891	T	0.37	.	14.5182	0.67833	1.0:0.0:0.0:0.0	.	34;33;33;34;34	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	A	33;34;34;33;33;34	ENSP00000406092:V33A;ENSP00000377370:V34A;ENSP00000420486:V34A;ENSP00000346700:V33A;ENSP00000401240:V33A;ENSP00000417413:V34A	ENSP00000346700:V33A	V	-	2	0	IGSF11	120131764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.692000	0.91284	2.207000	0.71202	0.533000	0.62120	GTG	.	.	none		0.557	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			G	118649074	A	G	118649074	3	3	40	1	0	0	0	0	1	0	0	0	7598	159	6	2	1218	2	IGSF11	3	118649074	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	31354059	118649074	79373356	39	24196										
COL6A5	256076	hgsc.bcm.edu	37	chr3	130116569	130116569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atcaagggggtgagctgtggGgctggcacagaggcacaggt	19	7	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr3:130116569G>A	ENST00000432398.2	+	9	4205	c.3711G>A	c.(3709-3711)ggG>ggA	p.G1237G	COL6A5_ENST00000265379.6_Silent_p.G1237G	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1237	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAGCTGTGGGGCTGGCACAG	0.542																																					p.G1237G		Atlas-SNP	.											.	COL6A5	205	.	0			c.G3711A						PASS	.						103	94	97					3																	130116569		692	1591	2283	SO:0001819	synonymous_variant	256076	exon9			CTGTGGGGCTGGC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3711G>A	3.37:g.130116569G>A		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	94	42	0.446809	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																				.	.	none		0.542	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130116569	G	A	130116569	2	1	40	1	0	0	0	0	0	0	0	1	3702	1219	43	2		2	COL6A5	3	130116569	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	11467495	130116569	67905861	40	24197										
POLN	353497	hgsc.bcm.edu	37	chr4	2097647	2097647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgcgtgtgtcacctgttccaCgggcacatccttcctgcatg	10	14	1	0	rs571169469		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:2097647C>T	ENST00000511885.2	-	20	2349	c.1996G>A	c.(1996-1998)Gtg>Atg	p.V666M	POLN_ENST00000382865.1_Missense_Mutation_p.V666M			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	666					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACCTGTTCCACGGGCACATCC	0.597								DNA polymerases (catalytic subunits)																													p.V666M		Atlas-SNP	.											.	POLN	82	.	0			c.G1996A						PASS	.						225	169	187					4																	2097647		2203	4300	6503	SO:0001583	missense	353497	exon18			GTTCCACGGGCAC	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1996G>A	4.37:g.2097647C>T	ENSP00000435506:p.Val666Met	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	108	17	0.157407	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208765	0.09757	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96651	-4.08;-4.08	3.68	-6.39	0.01951	DNA-directed DNA polymerase, family A, palm domain (2);	1.857100	0.02434	N	0.083837	D	0.89574	0.6754	L	0.39085	1.19	0.09310	N	1	B;P;B	0.35807	0.025;0.522;0.007	B;B;B	0.18561	0.022;0.021;0.01	D	0.84221	0.0461	10	0.39692	T	0.17	0.6846	2.5723	0.04798	0.1033:0.4161:0.1645:0.3161	.	197;357;666	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	M	666;666;357;197	ENSP00000435506:V666M;ENSP00000372316:V666M	ENSP00000253313:V357M	V	-	1	0	POLN	2067445	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.471000	0.00990	-1.765000	0.01303	-1.332000	0.01269	GTG	.	.	none		0.597	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		T	2097647	C	T	2097647	3	4	40	1	0	0	0	0	1	0	0	0	12207	536	19	1	734	1	POLN	4	2097647	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		2097647	189056629	41	24198										
MAN2B2	23324	hgsc.bcm.edu	37	chr4	6612851	6612851	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctgtggaacaacttcgactgGgacctgggctacaacctcac	10	13	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:6612851G>C	ENST00000285599.3	+	15	2445	c.2409G>C	c.(2407-2409)tgG>tgC	p.W803C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.W752C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	803					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACTTCGACTGGGACCTGGGCT	0.652																																					p.W803C		Atlas-SNP	.											.	MAN2B2	80	.	0			c.G2409C						PASS	.						58	58	58					4																	6612851		2203	4300	6503	SO:0001583	missense	23324	exon15			CGACTGGGACCTG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2409G>C	4.37:g.6612851G>C	ENSP00000285599:p.Trp803Cys	Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	61	40	0.655738	NM_015274	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554295|2.554295	0.45487|0.45487	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|D;D	.|0.83591	.|-1.74;-1.74	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|0.126763	.|0.56097	.|D	.|0.000023	D|D	0.90164|0.90164	0.6926|0.6926	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.996	.|D;D;D	.|0.74348	.|0.974;0.983;0.917	D|D	0.90939|0.90939	0.4796|0.4796	5|10	.|0.59425	.|D	.|0.04	-9.7275|-9.7275	13.6149|13.6149	0.62101|0.62101	0.0:0.0:0.8445:0.1555|0.0:0.0:0.8445:0.1555	.|.	.|752;803;803	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	A|C	802|803;752	.|ENSP00000285599:W803C;ENSP00000423129:W752C	.|ENSP00000285599:W803C	G|W	+|+	2|3	0|0	MAN2B2|MAN2B2	6663752|6663752	1.000000|1.000000	0.71417|0.71417	0.019000|0.019000	0.16419|0.16419	0.679000|0.679000	0.39708|0.39708	6.770000|6.770000	0.74990|0.74990	2.260000|2.260000	0.74910|0.74910	0.555000|0.555000	0.69702|0.69702	GGG|TGG	.	.	none		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		C	6612851	G	C	6612851	3	2	40	1	0	0	0	0	1	0	0	0	9217	1241	43	4	2467	4	MAN2B2	4	6612851	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	4515204	6612851	184541425	42	24199										
TAPT1	202018	hgsc.bcm.edu	37	chr4	16165117	16165117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttttccttttgatgaataggTtgtttggtgatggaggcaga	13	3	0	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:16165117T>C	ENST00000405303.2	-	14	1601	c.1518A>G	c.(1516-1518)caA>caG	p.Q506Q	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Silent_p.Q395Q	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	506					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GATGAATAGGTTGTTTGGTGA	0.363																																					p.Q506Q		Atlas-SNP	.											.	TAPT1	31	.	0			c.A1518G						PASS	.						92	87	88					4																	16165117		1875	4124	5999	SO:0001819	synonymous_variant	202018	exon14			AATAGGTTGTTTG	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1518A>G	4.37:g.16165117T>C		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	209	45	0.215311	NM_153365	Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																			.	.	none		0.363	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		C	16165117	T	C	16165117	2	2	40	1	0	0	0	0	0	0	0	1	15551	1722	60	2		2	TAPT1	4	16165117	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	9552266	16165117	174989159	43	24200										
TAPT1	202018	hgsc.bcm.edu	37	chr4	16165144	16165144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtgatggaggcagacaggttTtcttctgtggaaaggcctgt	15	6	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:16165144T>C	ENST00000405303.2	-	14	1574	c.1491A>G	c.(1489-1491)gaA>gaG	p.E497E	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Silent_p.E386E	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	497					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CAGACAGGTTTTCTTCTGTGG	0.348																																					p.E497E		Atlas-SNP	.											.	TAPT1	31	.	0			c.A1491G						PASS	.						63	59	60					4																	16165144		1856	4112	5968	SO:0001819	synonymous_variant	202018	exon14			CAGGTTTTCTTCT	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1491A>G	4.37:g.16165144T>C		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	177	43	0.242938	NM_153365	Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																			.	.	none		0.348	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		C	16165144	T	C	16165144	2	2	40	1	0	0	0	0	0	0	0	1	15551	1838	64	2		2	TAPT1	4	16165144	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	27	16165144	174989132	44	24201										
GUF1	60558	hgsc.bcm.edu	37	chr4	44680787	44680787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gggctaccgacaggctctacAgctccgcagaattcaaggtg	12	12	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:44680787A>G	ENST00000281543.5	+	1	342	c.148A>G	c.(148-150)Agc>Ggc	p.S50G	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CAGGCTCTACAGCTCCGCAGA	0.622																																					p.S50G		Atlas-SNP	.											.	GUF1	72	.	0			c.A148G						PASS	.						13	15	15					4																	44680787		2199	4292	6491	SO:0001583	missense	60558	exon1			CTCTACAGCTCCG		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.148A>G	4.37:g.44680787A>G	ENSP00000281543:p.Ser50Gly	Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	242	37	0.152893	NM_021927		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607169	0.28623	.	.	ENSG00000151806	ENST00000281543	T	0.70164	-0.46	4.01	-5.1	0.02911	.	1.118960	0.06514	N	0.738611	T	0.36026	0.0952	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.32370	T	0.25	0.5496	0.4147	0.00447	0.2657:0.1519:0.2865:0.296	.	50	Q8N442	GUF1_HUMAN	G	50	ENSP00000281543:S50G	ENSP00000281543:S50G	S	+	1	0	GUF1	44375544	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	-0.295000	0.08298	-0.969000	0.03573	0.533000	0.62120	AGC	.	.	none		0.622	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		G	44680787	A	G	44680787	3	3	40	1	0	0	0	0	1	0	0	0	6899	188	7	3	150	3	GUF1	4	44680787	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	28515643	44680787	146473489	45	24202										
PDLIM5	10611	hgsc.bcm.edu	37	chr4	95575792	95575792	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gccaaaggaagatccttggaGtaagtattggaaacgttttt	11	5	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:95575792G>A	ENST00000317968.4	+	10	1600		c.e10+1		PDLIM5_ENST00000437932.1_Splice_Site|PDLIM5_ENST00000514743.1_Splice_Site|PDLIM5_ENST00000542407.1_Splice_Site|PDLIM5_ENST00000380176.3_Splice_Site	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GATCCTTGGAGTAAGTATTGG	0.348																																					.		Atlas-SNP	.											.	PDLIM5	76	.	0			c.1464+1G>A						PASS	.						110	112	111					4																	95575792		2203	4300	6503	SO:0001630	splice_region_variant	10611	exon10			CTTGGAGTAAGTA	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1464+1G>A	4.37:g.95575792G>A		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	200	45	0.225	NM_006457	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Splice_Site	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666750	0.88251	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDLIM5	95794815	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.832000	0.99423	2.838000	0.97847	0.591000	0.81541	.	.	.	none		0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		Intron	A	95575792	G	A	95575792	5	1	40	1	0	0	0	0	0	0	1	0	11683	1043	36	2	1659	2	PDLIM5	4	95575792	Splice_Site	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	50895005	95575792	95578484	46	24203										
DKK2	27123	hgsc.bcm.edu	37	chr4	107845787	107845787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	taatgaccgtggtttcgatcTctgtgccgagtaccatccag	10	11	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:107845787T>C	ENST00000285311.3	-	3	1149	c.444A>G	c.(442-444)agA>agG	p.R148R	DKK2_ENST00000510463.1_Silent_p.R102R|DKK2_ENST00000513208.1_Silent_p.R48R	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	148					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGTTTCGATCTCTGTGCCGAG	0.443																																					p.R148R		Atlas-SNP	.											.	DKK2	96	.	0			c.A444G						PASS	.						236	214	222					4																	107845787		2203	4300	6503	SO:0001819	synonymous_variant	27123	exon3			TCGATCTCTGTGC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.444A>G	4.37:g.107845787T>C		Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	224	152	0.678571	NM_014421	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																			.	.	none		0.443	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			C	107845787	T	C	107845787	2	2	40	1	0	0	0	0	0	0	0	1	4545	1548	54	3		3	DKK2	4	107845787	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	12269995	107845787	83308489	47	24204										
SEC24B	10427	hgsc.bcm.edu	37	chr4	110384430	110384430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gccatgtactctgccagctcTtctgttgcgtctcagggatt	10	12	4	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:110384430T>C	ENST00000265175.5	+	2	562	c.507T>C	c.(505-507)tcT>tcC	p.S169S	SEC24B_ENST00000504968.2_Silent_p.S200S|SEC24B_ENST00000399100.2_Silent_p.S169S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	169					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGCCAGCTCTTCTGTTGCGT	0.478																																					p.S169S		Atlas-SNP	.											.	SEC24B	186	.	0			c.T507C						PASS	.						328	314	318					4																	110384430		2031	4188	6219	SO:0001819	synonymous_variant	10427	exon2			CAGCTCTTCTGTT	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.507T>C	4.37:g.110384430T>C		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	187	38	0.203209	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	CCDS47124.1																																																																																			.	.	none		0.478	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			C	110384430	T	C	110384430	2	2	40	1	0	0	0	0	0	0	0	1	13995	1596	56	3		3	SEC24B	4	110384430	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	2538643	110384430	80769846	48	24205										
FGG	2266	hgsc.bcm.edu	37	chr4	155526109	155526109	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	attgtgagtctgttgaatggGattatcttcatagtggtttt	11	3	3	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:155526109G>T	ENST00000336098.3	-	9	1277	c.1239C>A	c.(1237-1239)atC>atA	p.I413I	FGG_ENST00000404648.3_Silent_p.I413I|FGG_ENST00000405164.1_Silent_p.I421I|FGG_ENST00000407946.1_Silent_p.I421I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	413	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|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)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGTTGAATGGGATTATCTTCA	0.458																																					p.I413I		Atlas-SNP	.											.	FGG	71	.	0			c.C1239A						PASS	.						202	184	190					4																	155526109		2203	4300	6503	SO:0001819	synonymous_variant	2266	exon9			GAATGGGATTATC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1239C>A	4.37:g.155526109G>T		Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	164	34	0.207317	NM_000509	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	CCDS3788.1																																																																																			.	.	none		0.458	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		T	155526109	G	T	155526109	2	4	40	1	0	0	0	0	0	0	0	1	5870	1164	41	4		4	FGG	4	155526109	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	45141679	155526109	35628167	49	24206										
GRIA2	2891	hgsc.bcm.edu	37	chr4	158142838	158142838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggggggctatttcctaggggCgccgatcaagaatacagtgc	15	9	1	1	rs371935251		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:158142838C>T	ENST00000264426.9	+	2	387	c.108C>T	c.(106-108)ggC>ggT	p.G36G	GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000296526.7_Silent_p.G36G|GRIA2_ENST00000507898.1_5'UTR	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	36					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G36G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCCTAGGGGCGCCGATCAAG	0.537																																					p.G36G		Atlas-SNP	.											GRIA2_ENST00000264426,NS,carcinoma,0,2	GRIA2	358	2	2	Substitution - coding silent(2)	kidney(2)	c.C108T						PASS	.						95	99	98					4																	158142838		2203	4300	6503	SO:0001819	synonymous_variant	2891	exon2			TAGGGGCGCCGAT		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.108C>T	4.37:g.158142838C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	83	17	0.204819	NM_000826	A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																			.	.	alt		0.537	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			T	158142838	C	T	158142838	2	4	40	1	0	0	0	0	0	0	0	1	6768	755	27	1		1	GRIA2	4	158142838	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	2616729	158142838	33011438	50	24207										
ETFDH	2110	hgsc.bcm.edu	37	chr4	159601621	159601621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttcgtaatttttgtgcagcaTatcagtgctttcatgcctta	7	8	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:159601621T>G	ENST00000511912.1	+	2	369	c.37T>G	c.(37-39)Tat>Gat	p.Y13D	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	13					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTGTGCAGCATATCAGTGCTT	0.308																																					p.Y13D		Atlas-SNP	.											.	ETFDH	57	.	0			c.T37G						PASS	.						69	65	66					4																	159601621		2203	4300	6503	SO:0001583	missense	2110	exon2			GCAGCATATCAGT	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.37T>G	4.37:g.159601621T>G	ENSP00000426638:p.Tyr13Asp	Somatic	374	0	0		WXS	Illumina HiSeq	Phase_I	339	209	0.616519	NM_004453	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.990778	0.35131	.	.	ENSG00000171503	ENST00000511912	D	0.97186	-4.28	5.63	1.57	0.23409	.	0.343116	0.34435	N	0.003961	D	0.92237	0.7538	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.85706	0.1316	10	0.36615	T	0.2	0.1782	7.7593	0.28942	0.0:0.403:0.0:0.597	.	13	Q16134	ETFD_HUMAN	D	13	ENSP00000426638:Y13D	ENSP00000426638:Y13D	Y	+	1	0	ETFDH	159821071	0.697000	0.27767	0.728000	0.30774	0.906000	0.53458	0.223000	0.17719	0.503000	0.28060	-0.376000	0.06991	TAT	.	.	none		0.308	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			G	159601621	T	G	159601621	3	3	40	1	0	0	0	0	1	0	0	0	5271	1406	49	5	43	5	ETFDH	4	159601621	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	1458783	159601621	31552655	51	24208										
ODZ3	55714	hgsc.bcm.edu	37	chr4	183650276	183650276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccttttatgatcgaatcagtTtccttataggatctgatagc	7	8	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr4:183650276T>G	ENST00000511685.1	+	14	2650	c.2527T>G	c.(2527-2529)Ttc>Gtc	p.F843V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.F843V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	843					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCGAATCAGTTTCCTTATAGG	0.418																																					p.F843V		Atlas-SNP	.											.	.	.	.	0			c.T2527G						PASS	.						113	110	111					4																	183650276		1918	4133	6051	SO:0001583	missense	55714	exon13			ATCAGTTTCCTTA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2527T>G	4.37:g.183650276T>G	ENSP00000424226:p.Phe843Val	Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	136	17	0.125	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367200	0.41902	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.89810	-2.57;-2.57	4.84	4.84	0.62591	.	.	.	.	.	D	0.94291	0.8166	M	0.85710	2.77	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.95185	0.8303	9	0.87932	D	0	.	14.8669	0.70422	0.0:0.0:0.0:1.0	.	843	Q9P273	TEN3_HUMAN	V	843	ENSP00000424226:F843V;ENSP00000385276:F843V	ENSP00000385276:F843V	F	+	1	0	ODZ3	183887270	1.000000	0.71417	0.946000	0.38457	0.603000	0.37013	5.991000	0.70602	2.154000	0.67381	0.460000	0.39030	TTC	.	.	none		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			G	183650276	T	G	183650276	3	3	40	1	0	0	0	0	1	0	0	0	10836	1841	64	5	2577	5	ODZ3	4	183650276	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	24048655	183650276	7504000	52	24209										
FAM105B	90268	hgsc.bcm.edu	37	chr5	14681631	14681631	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcgagtccgtggtgataattActgtgcactgagggccacgc	14	10	0	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:14681631A>T	ENST00000284274.4	+	4	461	c.383A>T	c.(382-384)tAc>tTc	p.Y128F		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		128	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GGTGATAATTACTGTGCACTG	0.562																																					p.Y128F		Atlas-SNP	.											.	FAM105B	36	.	0			c.A383T						PASS	.						76	83	81					5																	14681631		2080	4218	6298	SO:0001583	missense	90268	exon4			ATAATTACTGTGC																												ENST00000284274.4:c.383A>T	5.37:g.14681631A>T	ENSP00000284274:p.Tyr128Phe	Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	116	36	0.310345	NM_138348	D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542953	0.86022	.	.	ENSG00000154124	ENST00000284274	T	0.19532	2.14	5.82	5.82	0.92795	.	0.061315	0.64402	D	0.000002	T	0.41143	0.1146	M	0.68317	2.08	0.50813	D	0.999894	D	0.71674	0.998	D	0.63488	0.915	T	0.31558	-0.9939	10	0.87932	D	0	-16.5211	11.3113	0.49366	0.9272:0.0:0.0728:0.0	.	128	Q96BN8	F105B_HUMAN	F	128	ENSP00000284274:Y128F	ENSP00000284274:Y128F	Y	+	2	0	FAM105B	14734631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.027000	0.93706	2.225000	0.72522	0.460000	0.39030	TAC	.	.	none		0.562	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			T	14681631	A	T	14681631	3	4	40	1	0	0	0	0	1	0	0	0	5388	391	14	5	397	5	FAM105B	5	14681631	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10		14681631	166233629	53	24210										
MAP1B	4131	hgsc.bcm.edu	37	chr5	71492363	71492363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggctggtggtgccgaggagCagtatggattcctcaccaca	14	10	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:71492363C>A	ENST00000296755.7	+	5	3479	c.3181C>A	c.(3181-3183)Cag>Aag	p.Q1061K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1061					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGCCGAGGAGCAGTATGGATT	0.527																																					p.Q1061K	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.C3181A						PASS	.						102	106	104					5																	71492363		2203	4300	6503	SO:0001583	missense	4131	exon5			GAGGAGCAGTATG	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3181C>A	5.37:g.71492363C>A	ENSP00000296755:p.Gln1061Lys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	36	14	0.388889	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.783	-0.761567	0.02996	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.86	4.91	0.64330	.	0.186043	0.38164	N	0.001796	T	0.01730	0.0055	N	0.01874	-0.695	0.33778	D	0.623966	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44651	-0.9314	10	0.12430	T	0.62	-19.5589	13.6838	0.62504	0.2629:0.7371:0.0:0.0	.	935;1061	A2BDK6;P46821	.;MAP1B_HUMAN	K	1061	ENSP00000296755:Q1061K	ENSP00000296755:Q1061K	Q	+	1	0	MAP1B	71528119	0.918000	0.31147	0.998000	0.56505	0.626000	0.37791	1.922000	0.40045	2.784000	0.95788	0.655000	0.94253	CAG	.	.	none		0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71492363	C	A	71492363	3	1	40	1	0	0	0	0	1	0	0	0	9228	711	25	4	3199	4	MAP1B	5	71492363	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	56810732	71492363	109422897	54	24211										
MCC	4163	hgsc.bcm.edu	37	chr5	112419851	112419851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccgatcagatgatgacgattCggaccttgtctttgatagct	10	9	2	4	rs373730711		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:112419851C>T	ENST00000302475.4	-	8	1575	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	MCC_ENST00000408903.3_Missense_Mutation_p.E528K|MCC_ENST00000515367.2_Missense_Mutation_p.E275K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	338					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATGACGATTCGGACCTTGTC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19552	0.0		0.0	False		,,,				2504	0.001				p.E528K		Atlas-SNP	.											.	MCC	234	.	0			c.G1582A						PASS	.	C	LYS/GLU,LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	178	162	168		1582,1012	5.5	0.6	5		168	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	56,56	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	528/1020,338/830	112419851	1,13003	2202	4300	6502	SO:0001583	missense	4163	exon10			ACGATTCGGACCT		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1012G>A	5.37:g.112419851C>T	ENSP00000305617:p.Glu338Lys	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	94	30	0.319149	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836563	0.50951	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.33865	2.56;2.57;1.39	5.47	5.47	0.80525	.	0.060761	0.64402	D	0.000007	T	0.29976	0.0750	N	0.14661	0.345	0.58432	D	0.999998	P;P;D;P	0.56521	0.892;0.738;0.976;0.817	B;B;P;B	0.45856	0.099;0.139;0.495;0.099	T	0.05225	-1.0898	10	0.35671	T	0.21	-5.0905	19.3251	0.94258	0.0:1.0:0.0:0.0	.	338;300;528;338	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	338;275;528	ENSP00000305617:E338K;ENSP00000421615:E275K;ENSP00000386227:E528K	ENSP00000305617:E338K	E	-	1	0	MCC	112447750	1.000000	0.71417	0.619000	0.29118	0.283000	0.27025	5.961000	0.70356	2.574000	0.86865	0.563000	0.77884	GAA	.	.	weak		0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		T	112419851	C	T	112419851	3	4	40	1	0	0	0	0	1	0	0	0	9373	893	31	1	1517	1	MCC	5	112419851	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	40927488	112419851	68495409	55	24212										
LMNB1	4001	hgsc.bcm.edu	37	chr5	126113530	126113530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cagatcgagctgggcaagtgCaaggcggaacacgaccagct	14	11	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:126113530C>T	ENST00000261366.5	+	1	691	c.330C>T	c.(328-330)tgC>tgT	p.C110C	LMNB1_ENST00000395354.1_Silent_p.C110C|RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	110	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TGGGCAAGTGCAAGGCGGAAC	0.711																																					p.C110C		Atlas-SNP	.											.	LMNB1	49	.	0			c.C330T						PASS	.						4	4	4					5																	126113530		1956	3851	5807	SO:0001819	synonymous_variant	4001	exon1			CAAGTGCAAGGCG	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.330C>T	5.37:g.126113530C>T		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	24	10	0.416667	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	CCDS4140.1																																																																																			.	.	none		0.711	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		T	126113530	C	T	126113530	2	4	40	1	0	0	0	0	0	0	0	1	8849	718	25	2		2	LMNB1	5	126113530	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	13693679	126113530	54801730	56	24213										
PCDHA4	56144	hgsc.bcm.edu	37	chr5	140186856	140186856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcagcctgggaggcagggaaCggtcagctccactactcggt	15	12	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:140186856C>T	ENST00000530339.1	+	1	84	c.84C>T	c.(82-84)aaC>aaT	p.N28N	PCDHA4_ENST00000512229.2_Silent_p.N28N|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N28N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	28					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N28N(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGGGAACGGTCAGCTCC	0.627																																					p.N28N		Atlas-SNP	.											PCDHA4_ENST00000530339,colon,carcinoma,+1,5	PCDHA4	419	5	1	Substitution - coding silent(1)	ovary(1)	c.C84T						scavenged	.						64	71	69					5																	140186856		2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			AGGGAACGGTCAG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.84C>T	5.37:g.140186856C>T		Somatic	110	1	0.00909091		WXS	Illumina HiSeq	Phase_I	92	30	0.326087	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.	.	none		0.627	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140186856	C	T	140186856	2	4	40	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140186856	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	14073326	140186856	40728404	57	24214										
PCDHB5	26167	hgsc.bcm.edu	37	chr5	140517068	140517068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcccaggcccaggccgactcGctcactgtctacctggtggt	12	16	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:140517068G>A	ENST00000231134.5	+	1	2269	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	684					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(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCGACTCGCTCACTGTCT	0.697																																					p.S684S		Atlas-SNP	.											PCDHB5,NS,carcinoma,+1,1	PCDHB5	184	1	0			c.G2052A						PASS	.						68	72	70					5																	140517068		2199	4295	6494	SO:0001819	synonymous_variant	26167	exon1			CGACTCGCTCACT	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2052G>A	5.37:g.140517068G>A		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	56	24	0.428571	NM_015669	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																			.	.	none		0.697	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140517068	G	A	140517068	2	1	40	1	0	0	0	0	0	0	0	1	11545	1074	38	1		1	PCDHB5	5	140517068	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	330212	140517068	40398192	58	24215										
PCDHGA7	56108	hgsc.bcm.edu	37	chr5	140764507	140764507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	acctgggcagccttgagcccTccgacggtccttacaactat	9	15	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr5:140764507T>C	ENST00000518325.1	+	1	2041	c.2041T>C	c.(2041-2043)Tcc>Ccc	p.S681P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	681	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGAGCCCTCCGACGGTCC	0.627																																					p.S681P		Atlas-SNP	.											PCDHGA7,NS,carcinoma,-2,1	PCDHGA7	130	1	0			c.T2041C						scavenged	.						56	63	61					5																	140764507		2201	4299	6500	SO:0001583	missense	56108	exon1			GAGCCCTCCGACG	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2041T>C	5.37:g.140764507T>C	ENSP00000430024:p.Ser681Pro	Somatic	78	1	0.0128205		WXS	Illumina HiSeq	Phase_I	53	2	0.0377358	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.083	-0.188590	0.06299	.	.	ENSG00000253537	ENST00000518325	T	0.52754	0.65	5.12	-8.1	0.01086	Cadherin (1);	.	.	.	.	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.34675	-0.9819	9	0.02654	T	1	.	7.8448	0.29419	0.1708:0.3145:0.0:0.5147	.	681;681	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	P	681	ENSP00000430024:S681P	ENSP00000430024:S681P	S	+	1	0	PCDHGA7	140744691	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.178000	0.03093	-1.919000	0.01071	-0.256000	0.11100	TCC	.	.	none		0.627	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		C	140764507	T	C	140764507	3	2	40	1	0	0	0	0	1	0	0	0	11559	1551	54	3	2043	3	PCDHGA7	5	140764507	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	247439	140764507	40150753	59	24216										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056330	26056330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcttccccggaggctgccttCttgttgagtttaaaggagcc	12	11	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:26056330C>G	ENST00000343677.2	-	1	369	c.327G>C	c.(325-327)aaG>aaC	p.K109N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	109	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K109N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGGCTGCCTTCTTGTTGAGTT	0.557																																					p.K109N		Atlas-SNP	.											HIST1H1C,colon,carcinoma,0,2	HIST1H1C	80	2	1	Substitution - Missense(1)	ovary(1)	c.G327C						PASS	.						80	87	85					6																	26056330		2203	4300	6503	SO:0001583	missense	3006	exon1			TGCCTTCTTGTTG	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.327G>C	6.37:g.26056330C>G	ENSP00000339566:p.Lys109Asn	Somatic	183	0	0		WXS	Illumina HiSeq	Phase_I	180	38	0.211111	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746067	0.89663	.	.	ENSG00000187837	ENST00000343677	T	0.11821	2.74	5.54	5.54	0.83059	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107876	0.64402	D	0.000008	T	0.49029	0.1533	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66524	-0.5902	10	0.87932	D	0	-3.6427	18.8173	0.92081	0.0:1.0:0.0:0.0	.	109	P16403	H12_HUMAN	N	109	ENSP00000339566:K109N	ENSP00000339566:K109N	K	-	3	2	HIST1H1C	26164309	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.924000	0.56476	2.763000	0.94921	0.655000	0.94253	AAG	.	.	none		0.557	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		G	26056330	C	G	26056330	3	3	40	1	0	0	0	0	1	0	0	0	7124	912	32	4	318	4	HIST1H1C	6	26056330	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		26056330	145058737	60	24217										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156900	26156900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtgagcaagggcaccctggtGcagaccaagggcaccggcgc	16	13	0	2	rs549787183		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:26156900G>A	ENST00000304218.3	+	1	342	c.282G>A	c.(280-282)gtG>gtA	p.V94V	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	94	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCACCCTGGTGCAGACCAAGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		15327	0.0		0.001	False		,,,				2504	0.0				p.V94V		Atlas-SNP	.											HIST1H1E,NS,carcinoma,+2,1	HIST1H1E	69	1	0			c.G282A						PASS	.						51	55	53					6																	26156900		2203	4300	6503	SO:0001819	synonymous_variant	3008	exon1			CCTGGTGCAGACC	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.282G>A	6.37:g.26156900G>A		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	104	41	0.394231	NM_005321	Q4VB25	Silent	SNP	ENST00000304218.3	37	CCDS4586.1																																																																																			.	.	none		0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26156900	G	A	26156900	2	1	40	1	0	0	0	0	0	0	0	1	7126	1306	46	2		2	HIST1H1E	6	26156900	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	100570	26156900	144958167	61	24218			1	110		3	3	1627	N	G_C	3.336669e-05
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156969	26156969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcggcctctggggaagccaaGcctaaggctaaaaaggcagg	15	10	1	0	rs376044340		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:26156969G>A	ENST00000304218.3	+	1	411	c.351G>A	c.(349-351)aaG>aaA	p.K117K	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	117					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGGAAGCCAAGCCTAAGGCTA	0.642																																					p.K117K		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.G351A						PASS	.	G		0,4404		0,0,2202	24	31	29		351	1.7	1	6		29	2,8598		0,2,4298	no	coding-synonymous	HIST1H1E	NM_005321.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		117/220	26156969	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	3008	exon1			AGCCAAGCCTAAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.351G>A	6.37:g.26156969G>A		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	88	23	0.261364	NM_005321	Q4VB25	Silent	SNP	ENST00000304218.3	37	CCDS4586.1																																																																																			.	.	weak		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26156969	G	A	26156969	2	1	40	1	0	0	0	0	0	0	0	1	7126	962	34	2		2	HIST1H1E	6	26156969	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	69	26156969	144958098	62	24219			1	110		3	3	1627	N	G_C	3.336669e-05
HIST1H2BD	3017	hgsc.bcm.edu	37	chr6	26158526	26158526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agctattcagtgtatgtgtaCaaggtgctgaagcaggtcca	12	7	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:26158526C>T	ENST00000289316.2	+	1	153	c.129C>T	c.(127-129)taC>taT	p.Y43Y	HIST1H2BD_ENST00000377777.4_Silent_p.Y43Y	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	43					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGTATGTGTACAAGGTGCTGA	0.557																																					p.Y43Y		Atlas-SNP	.											.	HIST1H2BD	45	.	0			c.C129T						PASS	.						203	188	193					6																	26158526		2203	4300	6503	SO:0001819	synonymous_variant	3017	exon1			TGTGTACAAGGTG	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.129C>T	6.37:g.26158526C>T		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	121	20	0.165289	NM_021063		Silent	SNP	ENST00000289316.2	37	CCDS4587.1																																																																																			.	.	none		0.557	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		T	26158526	C	T	26158526	2	4	40	1	0	0	0	0	0	0	0	1	7143	489	17	2		2	HIST1H2BD	6	26158526	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	1557	26158526	144956541	63	24220			1	110		3	3	1627	N	G_C	3.336669e-05
LTB	4050	hgsc.bcm.edu	37	chr6	31549597	31549597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cagtctgctcttacccagtcCttgctgggcctgtgccccgg	11	16	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:31549597C>T	ENST00000429299.2	-	2	209	c.202G>A	c.(202-204)Gga>Aga	p.G68R	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	68				DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						TTACCCAGTCCTTGCTGGGCC	0.622																																					p.G68R		Atlas-SNP	.											LTB,NS,lymphoid_neoplasm,0,1	LTB	19	1	0			c.G202A						PASS	.						93	102	99					6																	31549597		1510	2708	4218	SO:0001583	missense	4050	exon2			CCAGTCCTTGCTG	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.202G>A	6.37:g.31549597C>T	ENSP00000410481:p.Gly68Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	83	34	0.409639	NM_002341	P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398347	0.25205	.	.	ENSG00000227507	ENST00000429299	T	0.20200	2.09	5.45	2.51	0.30379	.	1.717780	0.03086	N	0.159154	T	0.02230	0.0069	N	0.01668	-0.77	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.34725	-0.9817	10	0.15952	T	0.53	1.0706	8.1037	0.30872	0.0:0.5863:0.2923:0.1214	.	68	Q06643	TNFC_HUMAN	R	68	ENSP00000410481:G68R	ENSP00000410481:G68R	G	-	1	0	LTB	31657576	0.038000	0.19896	0.101000	0.21167	0.840000	0.47671	0.893000	0.28336	0.656000	0.30886	0.655000	0.94253	GGA	.	.	none		0.622	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			T	31549597	C	T	31549597	3	4	40	1	0	0	0	0	1	0	0	0	9070	690	24	2	544	2	LTB	6	31549597	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	5391071	31549597	139565470	64	24221										
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33041313	33041313	+	Missense_Mutation	SNP	G	G	C													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agagggctctcaagatcacaGctctgatatggaacattctg							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:33041313G>C	ENST00000419277.1	-	2	164	c.35C>G	c.(34-36)gCt>gGt	p.A12G	HLA-DPB1_ENST00000418931.2_5'Flank|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.A12G|HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPB1_ENST00000535465.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	12					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CAAGATCACAGCTCTGATATG	0.557																																					p.A12G		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.C35G						PASS	.						191	175	181					6																	33041313		1511	2709	4220	SO:0001583	missense	3113	exon1			ATCACAGCTCTGA	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.35C>G	6.37:g.33041313G>C	ENSP00000393566:p.Ala12Gly	Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	49	18	0.367347	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582133	0.28180	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337;ENST00000417724	T;T;T	0.02656	4.56;4.56;4.21	4.1	1.19	0.21007	.	0.640274	0.14756	U	0.300279	T	0.00875	0.0029	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47235	-0.9133	10	0.87932	D	0	.	3.6194	0.08090	0.2214:0.0:0.5695:0.2091	.	12	P20036	DPA1_HUMAN	G	12	ENSP00000393566:A12G;ENSP00000402872:A12G;ENSP00000390929:A12G	ENSP00000398134:A12G	A	-	2	0	HLA-DPA1	33149291	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.331000	0.07914	-0.010000	0.14271	-0.148000	0.13756	GCT	.	.	none		0.557	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33041313	G	C	33041313	3	2	40	1	0	0	0	0	1	0	0	0	7202	971	34	4	763	4	HLA-DPA1	6	33041313	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1491716	33041313	138073754	65	24222	500	2								
HLA-DPA1	3113	hgsc.bcm.edu	37	chr6	33041314	33041314	+	Missense_Mutation	SNP	C	C	T													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gagggctctcaagatcacagCtctgatatggaacattctgt							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:33041314C>T	ENST00000419277.1	-	2	163	c.34G>A	c.(34-36)Gct>Act	p.A12T	HLA-DPB1_ENST00000418931.2_5'Flank|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.A12T|HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPB1_ENST00000535465.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	12					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AAGATCACAGCTCTGATATGG	0.557																																					p.A12T		Atlas-SNP	.											.	HLA-DPA1	20	.	0			c.G34A						PASS	.						190	174	180					6																	33041314		1511	2709	4220	SO:0001583	missense	3113	exon1			TCACAGCTCTGAT	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.34G>A	6.37:g.33041314C>T	ENSP00000393566:p.Ala12Thr	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	47	17	0.361702	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392417	0.42410	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337;ENST00000417724	T;T;T	0.02552	4.6;4.6;4.25	4.1	-1.87	0.07737	.	0.640274	0.14756	N	0.300279	T	0.00998	0.0033	L	0.59436	1.845	0.09310	N	1	B	0.32717	0.381	B	0.32624	0.149	T	0.44483	-0.9325	10	0.87932	D	0	.	1.319	0.02112	0.1483:0.409:0.146:0.2967	.	12	P20036	DPA1_HUMAN	T	12	ENSP00000393566:A12T;ENSP00000402872:A12T;ENSP00000390929:A12T	ENSP00000398134:A12T	A	-	1	0	HLA-DPA1	33149292	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	0.524000	0.22940	-0.286000	0.09076	0.643000	0.83706	GCT	.	.	none		0.557	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33041314	C	T	33041314	3	4	40	1	0	0	0	0	1	0	0	0	7202	797	28	2	764	2	HLA-DPA1	6	33041314	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	1	33041314	138073753	66	24223	500	2								
PIM1	5292	hgsc.bcm.edu	37	chr6	37138402	37138402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cacctgcgcgccgcgccctgCaacgacctgcacgccaccaa	9	21	0	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:37138402C>T	ENST00000373509.5	+	1	424	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	108					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCGCGCCCTGCAACGACCTGC	0.721			T	BCL6	NHL																																p.C108C		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C324T						PASS	.						27	28	28					6																	37138402		2201	4296	6497	SO:0001819	synonymous_variant	5292	exon1			GCCCTGCAACGAC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.51C>T	6.37:g.37138402C>T		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	60	16	0.266667	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138402	C	T	37138402	2	4	40	1	0	0	0	0	0	0	0	1	11927	718	25	2		2	PIM1	6	37138402	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	4097088	37138402	133976665	67	24224			2	111	10979876	5	5	802	N	G_C	1.094312e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37138423	37138423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aacgacctgcacgccaccaaGctggcgcccggtgagagcac	12	16	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:37138423G>C	ENST00000373509.5	+	1	445	c.72G>C	c.(70-72)aaG>aaC	p.K24N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	115					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.K24N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACGCCACCAAGCTGGCGCCCG	0.726			T	BCL6	NHL																																p.K115N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G345C						PASS	.						22	25	24					6																	37138423		2197	4289	6486	SO:0001583	missense	5292	exon1			CACCAAGCTGGCG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.72G>C	6.37:g.37138423G>C	ENSP00000362608:p.Lys24Asn	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	59	15	0.254237	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014762	0.19355	.	.	ENSG00000137193	ENST00000373509	T	0.69685	-0.42	4.2	2.33	0.28932	Protein kinase-like domain (1);	0.226724	0.29775	N	0.011236	T	0.17280	0.0415	N	0.08118	0	0.26025	N	0.981812	B	0.33266	0.404	B	0.25759	0.063	T	0.21552	-1.0242	10	0.18276	T	0.48	.	8.2558	0.31756	0.2022:0.0:0.7978:0.0	.	115	P11309	PIM1_HUMAN	N	24	ENSP00000362608:K24N	ENSP00000362608:K24N	K	+	3	2	PIM1	37246401	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	1.199000	0.32235	0.461000	0.27071	-0.284000	0.09977	AAG	.	.	none		0.726	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37138423	G	C	37138423	3	2	40	1	0	0	0	0	1	0	0	0	11927	962	34	4	74	4	PIM1	6	37138423	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	21	37138423	133976644	68	24225			2	111	10979876	5	5	802	N	G_C	1.094312e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37138563	37138563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tcctaggcaaggagaaggagCccctggagtcgcagtaccag	14	11	0	1	rs34095970		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:37138563C>A	ENST00000373509.5	+	2	470	c.97C>A	c.(97-99)Ccc>Acc	p.P33T		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	124					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGAGAAGGAGCCCCTGGAGTC	0.701			T	BCL6	NHL																																p.P124T		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C370A						PASS	.						21	31	28					6																	37138563		2155	4262	6417	SO:0001583	missense	5292	exon2			AAGGAGCCCCTGG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.97C>A	6.37:g.37138563C>A	ENSP00000362608:p.Pro33Thr	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	73	15	0.205479	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517268	0.44763	.	.	ENSG00000137193	ENST00000373509	T	0.69040	-0.37	4.64	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.27419	0.0673	N	0.08118	0	0.48571	D	0.999676	B	0.09022	0.002	B	0.06405	0.002	T	0.11060	-1.0603	10	0.23302	T	0.38	.	12.1438	0.54012	0.0:0.9152:0.0:0.0848	.	124	P11309	PIM1_HUMAN	T	33	ENSP00000362608:P33T	ENSP00000362608:P33T	P	+	1	0	PIM1	37246541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.980000	0.40618	2.294000	0.77228	0.549000	0.68633	CCC	.	.	none		0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			A	37138563	C	A	37138563	3	1	40	1	0	0	0	0	1	0	0	0	11927	739	26	4	103	4	PIM1	6	37138563	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	140	37138563	133976504	69	24226			2	111	10979876	5	5	802	N	G_C	1.094312e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37139086	37139086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggggagccctgcaagaggaGctggcccgcagcttcttctg	15	12	2	1	rs33989191	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:37139086G>C	ENST00000373509.5	+	4	799	c.426G>C	c.(424-426)gaG>gaC	p.E142D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGCAAGAGGAGCTGGCCCGCA	0.617			T	BCL6	NHL								G|||	11	0.00219649	0.0083	0.0	5008	,	,		16103	0.0		0.0	False		,,,				2504	0.0				p.E233D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.G699C						PASS	.	G	ASP/GLU	38,4368	40.8+/-73.8	0,38,2165	59	70	66		426	3.3	1	6	dbSNP_126	66	0,8600		0,0,4300	yes	missense	PIM1	NM_002648.3	45	0,38,6465	CC,CG,GG		0.0,0.8625,0.2922	benign	142/314	37139086	38,12968	2203	4300	6503	SO:0001583	missense	5292	exon4			AGAGGAGCTGGCC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.426G>C	6.37:g.37139086G>C	ENSP00000362608:p.Glu142Asp	Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	80	14	0.175	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	2.740	-0.262501	0.05791	0.008625	0.0	ENSG00000137193	ENST00000373509	T	0.65916	-0.18	4.19	3.31	0.37934	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.26224	N	0.025611	T	0.17959	0.0431	N	0.04373	-0.215	0.38312	D	0.943293	B	0.02656	0.0	B	0.04013	0.001	T	0.07986	-1.0744	10	0.10902	T	0.67	.	13.2969	0.60303	0.0:0.4445:0.5555:0.0	rs33989191	233	P11309	PIM1_HUMAN	D	142	ENSP00000362608:E142D	ENSP00000362608:E142D	E	+	3	2	PIM1	37247064	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	2.500000	0.45381	0.949000	0.37715	0.448000	0.29417	GAG	G|0.998;C|0.002	0.002	strong		0.617	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37139086	G	C	37139086	3	2	40	1	0	0	0	0	1	0	0	0	11927	962	34	4	440	4	PIM1	6	37139086	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	523	37139086	133975981	70	24227			2	111	10979876	5	5	802	N	G_C	1.094312e-11
PIM1	5292	hgsc.bcm.edu	37	chr6	37139203	37139203	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atcgacctcaatcgcggcgaGctcaagctcatcgacttcgg	10	14	3	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:37139203G>C	ENST00000373509.5	+	4	916	c.543G>C	c.(541-543)gaG>gaC	p.E181D		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.E181D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATCGCGGCGAGCTCAAGCTCA	0.637			T	BCL6	NHL																																p.E272D		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	PIM1,NS,lymphoid_neoplasm,0,1	PIM1	71	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G816C						PASS	.						32	33	32					6																	37139203		2203	4300	6503	SO:0001583	missense	5292	exon4			CGGCGAGCTCAAG		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.543G>C	6.37:g.37139203G>C	ENSP00000362608:p.Glu181Asp	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	64	10	0.15625	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354972	0.24512	.	.	ENSG00000137193	ENST00000373509	T	0.66099	-0.19	4.36	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.207237	0.40554	N	0.001073	T	0.26412	0.0645	L	0.45698	1.435	0.33559	D	0.597158	B	0.13594	0.008	B	0.19946	0.027	T	0.07558	-1.0766	10	0.08837	T	0.75	.	5.5129	0.16890	0.3296:0.0:0.6704:0.0	.	272	P11309	PIM1_HUMAN	D	181	ENSP00000362608:E181D	ENSP00000362608:E181D	E	+	3	2	PIM1	37247181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.006000	0.40874	1.020000	0.39573	0.448000	0.29417	GAG	.	.	none		0.637	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			C	37139203	G	C	37139203	3	2	40	1	0	0	0	0	1	0	0	0	11927	962	34	4	557	4	PIM1	6	37139203	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	117	37139203	133975864	71	24228			2	111	10979876	5	5	802	N	G_C	1.094312e-11
KIF6	221458	hgsc.bcm.edu	37	chr6	39607449	39607449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atgcctctgtcactgtaacgCtctgcaccccctgtgatagt	8	14	3	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:39607449C>T	ENST00000287152.7	-	4	430	c.336G>A	c.(334-336)gaG>gaA	p.E112E	KIF6_ENST00000538893.1_Silent_p.E112E|KIF6_ENST00000373215.3_Silent_p.E112E|KIF6_ENST00000373216.3_Silent_p.E112E	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	112	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)|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						CACTGTAACGCTCTGCACCCC	0.413																																					p.E112E		Atlas-SNP	.											.	KIF6	233	.	0			c.G336A						PASS	.						184	137	153					6																	39607449		2203	4300	6503	SO:0001819	synonymous_variant	221458	exon4			GTAACGCTCTGCA	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.336G>A	6.37:g.39607449C>T		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	126	48	0.380952	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051571	0.19827	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.67	-0.341	0.12639	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41980	-0.9478	4	.	.	.	.	10.5753	0.45223	0.0:0.4399:0.0:0.5601	.	.	.	.	N	4	.	.	S	-	2	0	KIF6	39715427	0.985000	0.35326	0.989000	0.46669	0.921000	0.55340	0.304000	0.19228	-0.138000	0.11434	-0.736000	0.03550	AGC	.	.	none		0.413	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		T	39607449	C	T	39607449	2	4	40	1	0	0	0	0	0	0	0	1	8308	796	28	2		2	KIF6	6	39607449	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	2468246	39607449	131507618	72	24229										
PKHD1	5314	hgsc.bcm.edu	37	chr6	51523890	51523890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttgttacttgataaggatgaAatcattccagtgctccttac	7	8	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:51523890A>G	ENST00000371117.3	-	61	11309	c.11034T>C	c.(11032-11034)atT>atC	p.I3678I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3678					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAAGGATGAAATCATTCCAG	0.418																																					p.I3678I		Atlas-SNP	.											.	PKHD1	927	.	0			c.T11034C						PASS	.						173	161	165					6																	51523890		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon61			GGATGAAATCATT	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11034T>C	6.37:g.51523890A>G		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	88	15	0.170455	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.	.	none		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51523890	A	G	51523890	2	3	40	1	0	0	0	0	0	0	0	1	11971	10	1	2		2	PKHD1	6	51523890	Silent	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	11916441	51523890	119591177	73	24230										
LCA5	167691	hgsc.bcm.edu	37	chr6	80223259	80223259	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttcaaagatttattttctttTagcagctcagctaacttgac	5	8	3	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:80223259T>G	ENST00000392959.1	-	4	1001	c.390A>C	c.(388-390)ctA>ctC	p.L130L	LCA5_ENST00000467898.3_Silent_p.L130L|LCA5_ENST00000369846.4_Silent_p.L130L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	130					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TATTTTCTTTTAGCAGCTCAG	0.373																																					p.L130L		Atlas-SNP	.											.	LCA5	71	.	0			c.A390C						PASS	.						74	76	75					6																	80223259		2203	4299	6502	SO:0001819	synonymous_variant	167691	exon3			TTCTTTTAGCAGC		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.390A>C	6.37:g.80223259T>G		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	165	113	0.684848	NM_001122769	E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	CCDS4990.1																																																																																			.	.	none		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		G	80223259	T	G	80223259	2	3	40	1	0	0	0	0	0	0	0	1	8656	1741	61	5		5	LCA5	6	80223259	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	28699369	80223259	90891808	74	24231										
AIM1	202	hgsc.bcm.edu	37	chr6	106968969	106968969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agggtgccccgccctgtggtTtgaacaaagaacagtcaaat	11	10	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:106968969T>G	ENST00000369066.3	+	2	3149	c.2662T>G	c.(2662-2664)Ttg>Gtg	p.L888V		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)		GCCCTGTGGTTTGAACAAAGA	0.478																																					p.L888V		Atlas-SNP	.											.	AIM1	161	.	0			c.T2662G						PASS	.						79	84	83					6																	106968969		2203	4300	6503	SO:0001583	missense	202	exon2			TGTGGTTTGAACA	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.2662T>G	6.37:g.106968969T>G	ENSP00000358062:p.Leu888Val	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	65	56	0.861538	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	0.856	-0.736842	0.03111	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71341	-0.56	5.99	0.485	0.16830	.	1.843970	0.02402	N	0.080812	T	0.33089	0.0851	N	0.22421	0.69	0.09310	N	0.99999	B	0.17667	0.023	B	0.14023	0.01	T	0.08146	-1.0736	10	0.32370	T	0.25	.	5.9215	0.19084	0.2723:0.0:0.2831:0.4446	.	888	Q9Y4K1	AIM1_HUMAN	V	1296;888	ENSP00000358062:L888V	ENSP00000285105:L1296V	L	+	1	2	AIM1	107075662	0.951000	0.32395	0.000000	0.03702	0.986000	0.74619	0.678000	0.25277	-0.127000	0.11661	0.533000	0.62120	TTG	.	.	none		0.478	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			G	106968969	T	G	106968969	3	3	40	1	0	0	0	0	1	0	0	0	430	1838	64	5	2668	5	AIM1	6	106968969	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	26745710	106968969	64146098	75	24232										
ALDH8A1	64577	hgsc.bcm.edu	37	chr6	135239666	135239666	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gaaaggaaggttcagctcccTgatgagccagcagttggtcc	13	10	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:135239666T>A	ENST00000265605.2	-	7	1419	c.1351A>T	c.(1351-1353)Agg>Tgg	p.R451W	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R397W|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R401W	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	451					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TTCAGCTCCCTGATGAGCCAG	0.567																																					p.R451W		Atlas-SNP	.											.	ALDH8A1	68	.	0			c.A1351T						PASS	.						86	74	78					6																	135239666		2203	4300	6503	SO:0001583	missense	64577	exon7			GCTCCCTGATGAG	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1351A>T	6.37:g.135239666T>A	ENSP00000265605:p.Arg451Trp	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	51	39	0.764706	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709287	0.89018	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.76709	-1.04;1.54;-1.04	6.07	4.88	0.63580	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84435	0.0579	10	0.66056	D	0.02	.	13.3589	0.60644	0.0:0.0:0.1316:0.8684	.	401;397;451	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	W	451;397;401	ENSP00000265605:R451W;ENSP00000356819:R397W;ENSP00000356821:R401W	ENSP00000265605:R451W	R	-	1	2	ALDH8A1	135281359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.074000	0.41529	1.081000	0.41110	0.533000	0.62120	AGG	.	.	none		0.567	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			A	135239666	T	A	135239666	3	1	40	1	0	0	0	0	1	0	0	0	505	1579	55	5	116	5	ALDH8A1	6	135239666	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	28270697	135239666	35875401	76	24233										
REPS1	85021	hgsc.bcm.edu	37	chr6	139262508	139262508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atcaatcagtttgggcattaAgctttcaggaagtttttctg	9	6	4	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr6:139262508A>G	ENST00000450536.2	-	8	1673	c.1099T>C	c.(1099-1101)Tta>Cta	p.L367L	REPS1_ENST00000409812.2_Silent_p.L367L|REPS1_ENST00000367663.4_Silent_p.L367L|REPS1_ENST00000415951.2_Silent_p.L367L|REPS1_ENST00000258062.5_Silent_p.L367L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	367	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGGGCATTAAGCTTTCAGGA	0.398																																					p.L367L		Atlas-SNP	.											.	REPS1	58	.	0			c.T1099C						PASS	.						177	180	179					6																	139262508		2203	4300	6503	SO:0001819	synonymous_variant	85021	exon8			GCATTAAGCTTTC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1099T>C	6.37:g.139262508A>G		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	69	51	0.73913	NM_001128617	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37																																																																																				.	.	none		0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			G	139262508	A	G	139262508	2	3	40	1	0	0	0	0	0	0	0	1	13228	69	3	3		3	REPS1	6	139262508	Silent	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	4022842	139262508	31852559	77	24234										
EIF3B	8662	hgsc.bcm.edu	37	chr7	2409105	2409105	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	attttattttcctgttctgcAgagacttttcttggtctcct	6	9	3	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:2409105A>C	ENST00000360876.4	+	10	1459		c.e10-1		EIF3B_ENST00000397011.2_Splice_Site	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTGTTCTGCAGAGACTTTTC	0.423																																					.		Atlas-SNP	.											.	EIF3B	54	.	0			c.1404-2A>C						PASS	.						186	199	194					7																	2409105		2203	4300	6503	SO:0001630	splice_region_variant	8662	exon10			TTCTGCAGAGACT	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1404-1A>C	7.37:g.2409105A>C		Somatic	484	0	0		WXS	Illumina HiSeq	Phase_I	366	128	0.349727	NM_003751		Splice_Site	SNP	ENST00000360876.4	37	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.071841	0.55646	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8091	0.78543	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3B	2375631	1.000000	0.71417	0.958000	0.39756	0.625000	0.37756	9.048000	0.93830	2.192000	0.70111	0.459000	0.35465	.	.	.	none		0.423	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1		Intron	C	2409105	A	C	2409105	5	2	40	1	0	0	0	0	0	0	1	0	5013	202	7	5	1440	5	EIF3B	7	2409105	Splice_Site	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10		2409105	156729558	78	24235										
BMPER	168667	hgsc.bcm.edu	37	chr7	33945290	33945290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccgccgctcgcctgggattaCgtgctgcgtcttgctgctac	12	15	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:33945290C>T	ENST00000297161.2	+	2	439	c.65C>T	c.(64-66)aCg>aTg	p.T22M	BMPER_ENST00000426693.1_Missense_Mutation_p.T22M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	22					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTGGGATTACGTGCTGCGTC	0.657																																					p.T22M		Atlas-SNP	.											BMPER,NS,carcinoma,-1,1	BMPER	131	1	0			c.C65T						PASS	.						53	49	50					7																	33945290		2203	4300	6503	SO:0001583	missense	168667	exon2			GGATTACGTGCTG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.65C>T	7.37:g.33945290C>T	ENSP00000297161:p.Thr22Met	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	83	15	0.180723	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386045	0.61956	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	T;T	0.19532	2.14;2.14	3.65	3.65	0.41850	.	0.272984	0.29119	N	0.013098	T	0.21427	0.0516	L	0.39898	1.24	0.29655	N	0.843626	D	0.63046	0.992	P	0.47044	0.535	T	0.06935	-1.0799	10	0.66056	D	0.02	.	10.617	0.45456	0.1929:0.8071:0.0:0.0	.	22	Q8N8U9	BMPER_HUMAN	M	22	ENSP00000297161:T22M;ENSP00000393950:T22M	ENSP00000297161:T22M	T	+	2	0	BMPER	33911815	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.575000	0.53870	2.014000	0.59158	0.557000	0.71058	ACG	.	.	none		0.657	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		T	33945290	C	T	33945290	3	4	40	1	0	0	0	0	1	0	0	0	1468	536	19	1	67	1	BMPER	7	33945290	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	31536185	33945290	125193373	79	24236										
DPY19L1	23333	hgsc.bcm.edu	37	chr7	35009120	35009120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gaaatgcagagtgcaatcaaGcttcctctataaagttttgt	8	7	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:35009120G>A	ENST00000310974.4	-	9	864	c.720C>T	c.(718-720)agC>agT	p.S240S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	240						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S240S(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTGCAATCAAGCTTCCTCTAT	0.358																																					p.S240S		Atlas-SNP	.											DPY19L1,NS,carcinoma,0,2	DPY19L1	56	2	2	Substitution - coding silent(2)	kidney(2)	c.C720T						scavenged	.						81	76	77					7																	35009120		1833	4097	5930	SO:0001819	synonymous_variant	23333	exon9			AATCAAGCTTCCT	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.720C>T	7.37:g.35009120G>A		Somatic	466	14	0.0300429		WXS	Illumina HiSeq	Phase_I	432	15	0.0347222	NM_015283	O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																			.	.	none		0.358	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			A	35009120	G	A	35009120	2	1	40	1	0	0	0	0	0	0	0	1	4740	962	34	2		2	DPY19L1	7	35009120	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1063830	35009120	124129543	80	24237										
FZD1	8321	hgsc.bcm.edu	37	chr7	90894950	90894950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gttctggaccagcaaccctcAgcacggcggcggagggcacc	14	15	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:90894950A>G	ENST00000287934.2	+	1	1168	c.755A>G	c.(754-756)cAg>cGg	p.Q252R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	252					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGCAACCCTCAGCACGGCGGC	0.736																																					p.Q252R		Atlas-SNP	.											.	FZD1	64	.	0			c.A755G						PASS	.						8	9	8					7																	90894950		2150	4250	6400	SO:0001583	missense	8321	exon1			ACCCTCAGCACGG	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.755A>G	7.37:g.90894950A>G	ENSP00000287934:p.Gln252Arg	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	60	13	0.216667	NM_003505	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866343	0.32977	.	.	ENSG00000157240	ENST00000287934	T	0.76316	-1.01	4.73	4.73	0.59995	.	0.781766	0.10486	N	0.668960	T	0.55721	0.1938	N	0.02539	-0.55	0.41784	D	0.989832	B	0.02656	0.0	B	0.04013	0.001	T	0.47394	-0.9121	10	0.17369	T	0.5	.	14.0288	0.64601	1.0:0.0:0.0:0.0	.	252	Q9UP38	FZD1_HUMAN	R	252	ENSP00000287934:Q252R	ENSP00000287934:Q252R	Q	+	2	0	FZD1	90732886	0.733000	0.28132	1.000000	0.80357	0.985000	0.73830	0.944000	0.29043	1.985000	0.57927	0.418000	0.28097	CAG	.	.	none		0.736	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		G	90894950	A	G	90894950	3	3	40	1	0	0	0	0	1	0	0	0	6128	188	7	3	757	3	FZD1	7	90894950	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	55885830	90894950	68243713	81	24238										
LAMB1	3912	hgsc.bcm.edu	37	chr7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctttacctgtggctcgtagcGaattaggatgtcgtactcca	10	10	0	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:107603364G>A	ENST00000222399.6	-	15	2073	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	LAMB1_ENST00000393561.1_Missense_Mutation_p.R639C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R615C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	615	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCTCGTAGCGAATTAGGATG	0.453																																					p.R615C		Atlas-SNP	.											LAMB1,NS,carcinoma,0,1	LAMB1	185	1	1	Substitution - Missense(1)	lung(1)	c.C1843T						scavenged	.						83	83	83					7																	107603364		2203	4300	6503	SO:0001583	missense	3912	exon15			CGTAGCGAATTAG	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1843C>T	7.37:g.107603364G>A	ENSP00000222399:p.Arg615Cys	Somatic	216	2	0.00925926		WXS	Illumina HiSeq	Phase_I	203	51	0.251232	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688937	0.68271	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.52295	0.82;0.83;0.67	4.72	4.72	0.59763	Laminin IV (1);	.	.	.	.	T	0.68485	0.3006	M	0.77103	2.36	0.80722	D	1	D;P;B	0.89917	1.0;0.682;0.296	D;B;B	0.63488	0.915;0.107;0.055	T	0.74714	-0.3572	9	0.87932	D	0	.	17.7011	0.88295	0.0:0.0:1.0:0.0	.	615;615;639	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	C	639;615;615	ENSP00000377191:R639C;ENSP00000222399:R615C;ENSP00000377190:R615C	ENSP00000222399:R615C	R	-	1	0	LAMB1	107390600	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.480000	0.81109	2.181000	0.69327	0.563000	0.77884	CGC	.	.	none		0.453	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107603364	G	A	107603364	3	1	40	1	0	0	0	0	1	0	0	0	8610	1058	37	1	3597	1	LAMB1	7	107603364	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	16708414	107603364	51535299	82	24239										
KCND2	3751	hgsc.bcm.edu	37	chr7	119915438	119915438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tttgcttcgcctggctgcagCgcctagtcgttaccgttttg	11	12	0	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:119915438C>T	ENST00000331113.4	+	1	1717	c.752C>T	c.(751-753)gCg>gTg	p.A251V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	251					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGCTGCAGCGCCTAGTCGT	0.532																																					p.A251V		Atlas-SNP	.											.	KCND2	194	.	0			c.C752T						PASS	.						183	151	162					7																	119915438		2203	4300	6503	SO:0001583	missense	3751	exon1			CTGCAGCGCCTAG	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.752C>T	7.37:g.119915438C>T	ENSP00000333496:p.Ala251Val	Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	183	27	0.147541	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143439	0.77888	.	.	ENSG00000184408	ENST00000331113	D	0.97831	-4.56	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.67625	2.065	0.54753	D	0.999986	D	0.89917	1.0	D	0.78314	0.991	D	0.98623	1.0668	9	.	.	.	.	19.5635	0.95382	0.0:1.0:0.0:0.0	.	251	Q9NZV8	KCND2_HUMAN	V	251	ENSP00000333496:A251V	.	A	+	2	0	KCND2	119702674	1.000000	0.71417	0.195000	0.23364	0.955000	0.61496	5.999000	0.70665	2.636000	0.89361	0.557000	0.71058	GCG	.	.	none		0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915438	C	T	119915438	3	4	40	1	0	0	0	0	1	0	0	0	8019	768	27	1	754	1	KCND2	7	119915438	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	12312074	119915438	39223225	83	24240										
RBM33	155435	hgsc.bcm.edu	37	chr7	155532534	155532545	+	In_Frame_Del	DEL	CCCACCCCAGCA	CCCACCCCAGCA	-													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cccccgccccagcaccagccCccaccccagcacccaccaca							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	CCCACCCCAGCA	CCCACCCCAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr7:155532534_155532545delCCCACCCCAGCA	ENST00000401878.3	+	12	2061_2072	c.1863_1874delCCCACCCCAGCA	c.(1861-1875)cccccaccccagcac>ccc	p.PPQH630del		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	630	His-rich.|Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		agcaccagcccccaccccagcacccaccacag	0.708																																					p.621_625del		Atlas-Indel	.											.	RBM33	157	.	0			c.1862_1873del						PASS	.			77,2879		15,47,1416						5.1	0.2			6	120,5272		26,68,2602	no	coding	RBM33	NM_053043.2		41,115,4018	A1A1,A1R,RR		2.2255,2.6049,2.3598				197,8151				SO:0001651	inframe_deletion	155435	exon12			.	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1863_1874delCCCACCCCAGCA	7.37:g.155532534_155532545delCCCACCCCAGCA	ENSP00000384160:p.Pro630_His633del	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	25	13	0.52	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	In_Frame_Del	DEL	ENST00000401878.3	37	CCDS5941.2																																																																																			.	.	none		0.708	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		-	155532545	CCCACCCCAGCA	-	155532534	7	5	40	1	0	1	0	1	0	0	0	0	13130	610	22	0	1909	0	RBM33	7	155532534	In_Frame_Del	DEL	CCCACCCCAGCA	TCGA-RQ-AAAT-01A-11D-A38X-10	35617096	155532534	3606129	84	24241										
DLGAP2	9228	hgsc.bcm.edu	37	chr8	1497114	1497114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agcaccttcccgcggatgcaCtacagctcgcactacgacac	8	17	0	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:1497114C>A	ENST00000421627.2	+	2	389	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	164					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGCGGATGCACTACAGCTCGC	0.682																																					p.H85Q		Atlas-SNP	.											.	DLGAP2	292	.	0			c.C255A						PASS	.						18	20	19					8																	1497114		2176	4269	6445	SO:0001583	missense	9228	exon2			GATGCACTACAGC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.255C>A	8.37:g.1497114C>A	ENSP00000400258:p.His85Gln	Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	21	7	0.333333	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604713|4.604713	0.87157|0.87157	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.16743|.	2.32|.	5.43|5.43	4.56|4.56	0.56223|0.56223	.|.	0.101563|.	0.85682|.	D|.	0.000000|.	T|T	0.75339|0.75339	0.3836|0.3836	M|M	0.79926|0.79926	2.475|2.475	0.45806|0.45806	D|D	0.998684|0.998684	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	T|T	0.76889|0.76889	-0.2792|-0.2792	10|5	0.87932|.	D|.	0|.	-18.5305|-18.5305	14.0129|14.0129	0.64507|0.64507	0.0:0.9271:0.0:0.0729|0.0:0.9271:0.0:0.0729	.|.	164;164|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	Q|N	130;85|102	ENSP00000400258:H85Q|.	ENSP00000348366:H130Q|.	H|T	+|+	3|2	2|0	DLGAP2|DLGAP2	1484521|1484521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.532000|1.532000	0.36029|0.36029	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	CAC|ACT	.	.	none		0.682	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1497114	C	A	1497114	3	1	40	1	0	0	0	0	1	0	0	0	4560	564	20	4	257	4	DLGAP2	8	1497114	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		1497114	144866908	85	24242										
SOX7	83595	hgsc.bcm.edu	37	chr8	10587841	10587841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggagcccttgtcccccggggGccgggggacggccggcggcg	21	15	0	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:10587841G>A	ENST00000304501.1	-	1	181	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	35					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		Tcccccgggggccgggggacg	0.701																																					p.P35S		Atlas-SNP	.											.	SOX7	50	.	0			c.C103T						PASS	.						10	14	13					8																	10587841		2170	4260	6430	SO:0001583	missense	83595	exon1			CCGGGGGCCGGGG	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.103C>T	8.37:g.10587841G>A	ENSP00000301921:p.Pro35Ser	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	84	31	0.369048	NM_031439	B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	g	3.164	-0.171510	0.06421	.	.	ENSG00000171056	ENST00000304501	D	0.98531	-4.98	3.47	1.26	0.21427	High mobility group, superfamily (1);	0.278361	0.35407	U	0.003229	D	0.91294	0.7255	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83684	0.0173	10	0.08837	T	0.75	.	6.9316	0.24444	0.0:0.1745:0.6208:0.2047	.	35	Q9BT81	SOX7_HUMAN	S	35	ENSP00000301921:P35S	ENSP00000301921:P35S	P	-	1	0	SOX7	10625251	0.001000	0.12720	0.029000	0.17559	0.300000	0.27592	0.569000	0.23638	0.616000	0.30141	0.450000	0.29827	CCC	.	.	none		0.701	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			A	10587841	G	A	10587841	3	1	40	1	0	0	0	0	1	0	0	0	14956	1203	42	2	1071	2	SOX7	8	10587841	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	9090727	10587841	135776181	86	24243										
CHD7	55636	hgsc.bcm.edu	37	chr8	61714117	61714118	+	Frame_Shift_Ins	INS	-	-	A													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgcagaaggcccagtggtagINSaaaaaattatgagcagtcgt							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:61714117_61714118insA	ENST00000423902.2	+	6	2886_2887	c.2407_2408insA	c.(2407-2409)gaafs	p.E803fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.E803fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	803	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCAGTGGTAGAAAAAATTATG	0.391																																					p.E803fs		Pindel,Atlas-Indel	.											.	CHD7	534	.	1	Insertion - In frame(1)	lung(1)	c.2407_2408insA						PASS	.																																			SO:0001589	frameshift_variant	55636	exon6			.	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2413dupA	8.37:g.61714123_61714123dupA	ENSP00000392028:p.Glu803fs	Somatic	138	.	.		WXS	Illumina HiSeq	Phase_I	164	28	0.171	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	CCDS47865.1																																																																																			.	.	none		0.391	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61714118	-	A	61714117	7	5	40	1	0	1	1	0	0	0	0	0	3330	943	33	0	2425	0	CHD7	8	61714117	Frame_Shift_Ins	INS	-	TCGA-RQ-AAAT-01A-11D-A38X-10	51126276	61714117	84649905	87	24244										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101730000	101730000	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agctagatatttataacttaCactttgcgatcatttaggag	7	6	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:101730000C>A	ENST00000318607.5	-	3	1632		c.e3+1		PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTATAACTTACACTTTGCGAT	0.323																																					.		Atlas-SNP	.											.	PABPC1	76	.	0			c.503+1G>T						PASS	.						47	45	46					8																	101730000		2203	4299	6502	SO:0001630	splice_region_variant	26986	exon4			AACTTACACTTTG	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.503+1G>T	8.37:g.101730000C>A		Somatic	385	1	0.0025974		WXS	Illumina HiSeq	Phase_I	334	117	0.350299	NM_002568	Q15097|Q93004	Splice_Site	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499709	0.64298	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000519100;ENST00000523555	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5422	0.91033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PABPC1	101799176	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.756000	0.85195	2.456000	0.83038	0.563000	0.77884	.	.	.	none		0.323	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Intron	A	101730000	C	A	101730000	5	1	40	1	0	0	0	0	0	0	1	0	11363	492	17	4	1454	4	PABPC1	8	101730000	Splice_Site	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	40015883	101730000	44634022	88	24245										
PABPC1	26986	hgsc.bcm.edu	37	chr8	101730422	101730422	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gttgcctactccacttttgcGaagtgatggatcacgctgag	11	10	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:101730422G>C	ENST00000318607.5	-	2	1408	c.280C>G	c.(280-282)Cgc>Ggc	p.R94G	PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.R49G|PABPC1_ENST00000522387.1_Missense_Mutation_p.R94G	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCACTTTTGCGAAGTGATGGA	0.413																																					p.R94G		Atlas-SNP	.											PABPC1,NS,carcinoma,+2,2	PABPC1	76	2	0			c.C280G						scavenged	.						94	88	90					8																	101730422		2203	4300	6503	SO:0001583	missense	26986	exon2			TTTTGCGAAGTGA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.280C>G	8.37:g.101730422G>C	ENSP00000313007:p.Arg94Gly	Somatic	109	1	0.00917431		WXS	Illumina HiSeq	Phase_I	107	38	0.35514	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	g	19.43	3.826868	0.71143	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142	T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39	5.37	4.5	0.54988	.	0.086607	0.49916	N	0.000131	T	0.37237	0.0996	H	0.96889	3.9	0.47994	D	0.99956	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.63597	0.916;0.845;0.845	T	0.62412	-0.6860	10	0.87932	D	0	.	16.6119	0.84885	0.0:0.1303:0.8697:0.0	.	94;94;94	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	G	94;94;49;94;49;94;94	ENSP00000313007:R94G;ENSP00000429594:R49G;ENSP00000429395:R94G;ENSP00000430159:R49G;ENSP00000429119:R94G;ENSP00000430012:R94G	ENSP00000313007:R94G	R	-	1	0	PABPC1	101799598	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.090000	0.57693	1.421000	0.47157	-0.127000	0.14921	CGC	.	.	none		0.413	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101730422	G	C	101730422	3	2	40	1	0	0	0	0	1	0	0	0	11363	1058	37	4	1682	4	PABPC1	8	101730422	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	422	101730422	44633600	89	24246										
ENPP2	5168	hgsc.bcm.edu	37	chr8	120631489	120631489	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ataaaatacacttaccctgcAgggcattctgcggcctttat	7	11	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:120631489A>T	ENST00000075322.6	-	5	532	c.474T>A	c.(472-474)ccT>ccA	p.P158P	ENPP2_ENST00000522826.1_Silent_p.P158P|ENPP2_ENST00000427067.2_Silent_p.P154P|ENPP2_ENST00000259486.6_Silent_p.P158P	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	158					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTACCCTGCAGGGCATTCTG	0.348																																					p.P158P	Melanoma(20;305 879 2501 4818 31020)	Atlas-SNP	.											.	ENPP2	254	.	0			c.T474A						PASS	.						98	92	94					8																	120631489		2203	4300	6503	SO:0001819	synonymous_variant	5168	exon5			CCCTGCAGGGCAT	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.474T>A	8.37:g.120631489A>T		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	120	53	0.441667	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			.	.	none		0.348	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120631489	A	T	120631489	2	4	40	1	0	0	0	0	0	0	0	1	5130	175	7	5		5	ENPP2	8	120631489	Silent	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	18901067	120631489	25732533	90	24247										
GML	2765	hgsc.bcm.edu	37	chr8	143927837	143927837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	attctcgtgaactacttgttTataagaactgtacaaacaac	5	8	1	2	rs527963435		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr8:143927837T>C	ENST00000220940.1	+	4	298	c.208T>C	c.(208-210)Tat>Cat	p.Y70H		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	70	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTACTTGTTTATAAGAACTG	0.358																																					p.Y70H		Atlas-SNP	.											.	GML	34	.	0			c.T208C						PASS	.						47	50	49					8																	143927837		2203	4300	6503	SO:0001583	missense	2765	exon4			CTTGTTTATAAGA	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.208T>C	8.37:g.143927837T>C	ENSP00000220940:p.Tyr70His	Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	162	67	0.41358	NM_002066	A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	12.72	2.021959	0.35701	.	.	ENSG00000104499	ENST00000220940	T	0.22134	1.97	3.52	0.822	0.18806	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	0.882556	0.09431	N	0.803024	T	0.31857	0.0810	L	0.56769	1.78	0.09310	N	1	D	0.64830	0.994	P	0.61477	0.889	T	0.15464	-1.0436	10	0.38643	T	0.18	-9.9934	2.9907	0.05982	0.2121:0.122:0.0:0.6659	.	70	Q99445	GML_HUMAN	H	70	ENSP00000220940:Y70H	ENSP00000220940:Y70H	Y	+	1	0	GML	143924839	0.415000	0.25416	0.010000	0.14722	0.004000	0.04260	0.819000	0.27308	0.158000	0.19367	0.455000	0.32223	TAT	.	.	none		0.358	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		C	143927837	T	C	143927837	3	2	40	1	0	0	0	0	1	0	0	0	6492	1754	61	2	218	2	GML	8	143927837	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	23296348	143927837	2436185	91	24248										
FOXD4	2298	hgsc.bcm.edu	37	chr9	117303	117303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cttcggtgccccggcataggCgggggccgagagcagtaggt	18	11	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr9:117303C>T	ENST00000382500.2	-	1	1114	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	273	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGGCATAGGCGGGGGCCGAG	0.701																																					p.A273T		Atlas-SNP	.											.	FOXD4	75	.	0			c.G817A						PASS	.						21	29	26					9																	117303		1510	3118	4628	SO:0001583	missense	2298	exon1			CATAGGCGGGGGC	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.817G>A	9.37:g.117303C>T	ENSP00000371940:p.Ala273Thr	Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	16	5	0.3125	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	9.647	1.140578	0.21205	.	.	ENSG00000170122	ENST00000382500	D	0.95035	-3.59	2.41	0.42	0.16444	.	0.439500	0.16007	U	0.234007	D	0.86372	0.5917	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.75025	-0.3463	10	0.45353	T	0.12	.	3.4329	0.07434	0.0:0.5061:0.2126:0.2813	.	273	Q12950	FOXD4_HUMAN	T	273	ENSP00000371940:A273T	ENSP00000371940:A273T	A	-	1	0	FOXD4	107303	0.006000	0.16342	0.009000	0.14445	0.007000	0.05969	-0.062000	0.11674	-0.061000	0.13110	-0.751000	0.03497	GCC	.	.	none		0.701	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		T	117303	C	T	117303	3	4	40	1	0	0	0	0	1	0	0	0	5999	768	27	1	506	1	FOXD4	9	117303	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		117303	141096128	92	24249										
BNC2	54796	hgsc.bcm.edu	37	chr9	16727796	16727796	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aagaaagaaagtaacttaccTgttgggacattctgaataag	9	5	1	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr9:16727796T>A	ENST00000380672.4	-	3	386	c.329A>T	c.(328-330)cAg>cTg	p.Q110L	BNC2_ENST00000380666.2_Splice_Site_p.Q110L|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|RP11-62F24.2_ENST00000450445.1_RNA	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTAACTTACCTGTTGGGACAT	0.373																																					p.Q110L		Atlas-SNP	.											.	BNC2	166	.	0			c.A329T						PASS	.						176	168	171					9																	16727796		2203	4300	6503	SO:0001630	splice_region_variant	54796	exon3			CTTACCTGTTGGG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.330+1A>T	9.37:g.16727796T>A		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	99	45	0.454545	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089390	0.76756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	T;T;T	0.04015	3.73;3.73;3.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.63046	0.992;0.981;0.967;0.967	D;D;P;D	0.72982	0.979;0.969;0.901;0.932	T	0.00071	-1.2131	10	0.72032	D	0.01	-18.987	16.8222	0.85835	0.0:0.0:0.0:1.0	.	110;110;68;110	Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;BNC2_HUMAN	L	110;67;110;110;110;110	ENSP00000370047:Q110L;ENSP00000408370:Q67L;ENSP00000370041:Q110L	ENSP00000370041:Q110L	Q	-	2	0	BNC2	16717796	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.470000	0.80973	2.371000	0.80710	0.533000	0.62120	CAG	.	.	none		0.373	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	Missense_Mutation	A	16727796	T	A	16727796	5	1	40	1	0	0	0	0	0	0	1	0	1475	1594	55	5	2990	5	BNC2	9	16727796	Splice_Site	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	16610493	16727796	124485635	93	24250										
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18680514	18680514	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctggcacaggagtggtctccGgtaactgtgccttctttctt	11	11	3	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr9:18680514G>A	ENST00000380548.4	+	11	1680	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	ADAMTSL1_ENST00000276935.6_Splice_Site_p.P447P|ADAMTSL1_ENST00000327883.7_Splice_Site_p.P447P|ADAMTSL1_ENST00000380566.4_Silent_p.P430P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	447	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGTGGTCTCCGGTAACTGTGC	0.527																																					p.P447P		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.G1341A						PASS	.						116	112	114					9																	18680514		2203	4300	6503	SO:0001630	splice_region_variant	92949	exon11			GTCTCCGGTAACT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1341+1G>A	9.37:g.18680514G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	45	16	0.355556	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																			.	.	none		0.527	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Silent	A	18680514	G	A	18680514	5	1	40	1	0	0	0	0	0	0	1	0	274	1130	39	1	1383	1	ADAMTSL1	9	18680514	Splice_Site	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1952718	18680514	122532917	94	24251										
GCNT1	2650	hgsc.bcm.edu	37	chr9	79118237	79118237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agttgatggagtgggcacaaGacacatacagccctgatgag	13	8	0	4			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr9:79118237G>A	ENST00000376730.4	+	4	1423	c.940G>A	c.(940-942)Gac>Aac	p.D314N	GCNT1_ENST00000536223.1_Missense_Mutation_p.D314N|GCNT1_ENST00000444201.2_Missense_Mutation_p.D314N|GCNT1_ENST00000442371.1_Missense_Mutation_p.D314N	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	314	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGGGCACAAGACACATACAG	0.488																																					p.D314N		Atlas-SNP	.											.	GCNT1	52	.	0			c.G940A						PASS	.						74	74	74					9																	79118237		2203	4300	6503	SO:0001583	missense	2650	exon4			GCACAAGACACAT	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.940G>A	9.37:g.79118237G>A	ENSP00000365920:p.Asp314Asn	Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	116	53	0.456897	NM_001490	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	33	5.233247	0.95207	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21621	-1.0240	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	314	Q02742	GCNT1_HUMAN	N	314	ENSP00000440883:D314N;ENSP00000415454:D314N;ENSP00000390703:D314N;ENSP00000365920:D314N	.	D	+	1	0	GCNT1	78308057	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC	.	.	none		0.488	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		A	79118237	G	A	79118237	3	1	40	1	0	0	0	0	1	0	0	0	6300	942	33	2	942	2	GCNT1	9	79118237	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	60437723	79118237	62095194	95	24252										
FLJ46321	389763	hgsc.bcm.edu	37	chr9	84609323	84609323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggggatgcagggctggggaCatcccaacgcaggagaaaga	17	8	0	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr9:84609323C>T	ENST00000344803.2	+	4	3985	c.3938C>T	c.(3937-3939)aCa>aTa	p.T1313I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1313					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCTGGGGACATCCCAACGC	0.527																																					p.T1313I		Atlas-SNP	.											.	.	.	.	0			c.C3938T						PASS	.						30	30	30					9																	84609323		1936	4134	6070	SO:0001583	missense	389763	exon4			TGGGGACATCCCA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3938C>T	9.37:g.84609323C>T	ENSP00000341988:p.Thr1313Ile	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	77	43	0.558442	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396019	0.25205	.	.	ENSG00000214929	ENST00000344803	T	0.18016	2.24	3.02	-0.0902	0.13666	.	0.543984	0.13848	U	0.358549	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.33339	0.162	T	0.23762	-1.0179	10	0.35671	T	0.21	-4.7927	3.1663	0.06536	0.0:0.4943:0.229:0.2767	.	1313	Q6ZQQ2	F75D1_HUMAN	I	1313	ENSP00000341988:T1313I	ENSP00000341988:T1313I	T	+	2	0	FAM75D1	83799143	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.381000	0.07417	-0.010000	0.14271	0.655000	0.94253	ACA	.	.	none		0.527	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84609323	C	T	84609323	3	4	40	1	0	0	0	0	1	0	0	0	5932	478	17	2	3952	2	FLJ46321	9	84609323	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	5491086	84609323	56604108	96	24253										
TUBB8	347688	hgsc.bcm.edu	37	chr10	93876	93876	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tactcctcccggatcttactGagcagaagggtacccatccc	8	15	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr10:93876G>A	ENST00000309812.4	-	4	518	c.456C>T	c.(454-456)ctC>ctT	p.L152L	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Silent_p.L80L	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	152					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L152L(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATCTTACTGAGCAGAAGGG	0.592																																					p.L152L	Pancreas(192;2041 3010 9013 18103)	Atlas-SNP	.											TUBB8,NS,carcinoma,0,1	TUBB8	62	1	1	Substitution - coding silent(1)	cervix(1)	c.C456T						scavenged	.						106	94	98					10																	93876		2203	4300	6503	SO:0001819	synonymous_variant	347688	exon4			CTTACTGAGCAGA	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.456C>T	10.37:g.93876G>A		Somatic	95	1	0.0105263		WXS	Illumina HiSeq	Phase_I	67	7	0.104478	NM_177987	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			A|1.000;|0.000	1.000	weak		0.592	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	93876	G	A	93876	2	1	40	1	0	0	0	0	0	0	0	1	16758	1277	45	2		2	TUBB8	10	93876	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		93876	135440871	97	24254										
GRID1	2894	hgsc.bcm.edu	37	chr10	87614258	87614258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gagcctgaggcttaccttgcGcatgtctttgccaaaagtct	10	11	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr10:87614258G>A	ENST00000327946.7	-	8	1313	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTACCTTGCGCATGTCTTTG	0.512										Multiple Myeloma(13;0.14)																											p.R410C		Atlas-SNP	.											GRID1,right_upper_lobe,carcinoma,0,2	GRID1	204	2	1	Substitution - Missense(1)	lung(1)	c.C1228T						PASS	.						129	112	118					10																	87614258		2203	4300	6503	SO:0001583	missense	2894	exon8			CCTTGCGCATGTC	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1228C>T	10.37:g.87614258G>A	ENSP00000330148:p.Arg410Cys	Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	34	13	0.382353	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055667	0.75960	.	.	ENSG00000182771	ENST00000327946	D	0.86694	-2.16	5.79	3.93	0.45458	.	0.558823	0.17213	N	0.182625	T	0.78786	0.4338	N	0.24115	0.695	0.80722	D	1	B	0.15719	0.014	B	0.06405	0.002	T	0.72769	-0.4193	10	0.87932	D	0	.	10.416	0.44322	0.0696:0.0:0.7963:0.1341	.	410	Q9ULK0	GRID1_HUMAN	C	410	ENSP00000330148:R410C	ENSP00000330148:R410C	R	-	1	0	GRID1	87604238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	0.782000	0.33613	0.563000	0.77884	CGC	.	.	none		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87614258	G	A	87614258	3	1	40	1	0	0	0	0	1	0	0	0	6771	1087	38	1	1837	1	GRID1	10	87614258	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	87520382	87614258	47920489	98	24255										
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		Atlas-SNP	.											MUC5B,caecum,carcinoma,0,2	MUC5B	473	2	0			c.A2045G						scavenged	.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	66	2	0.030303		WXS	Illumina HiSeq	Phase_I	74	10	0.135135	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.	.	weak		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	40	1	0	0	0	0	1	0	0	0	9979	275	10	2	2120	2	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10		1253980	133752536	99	24256										
OR52R1	119695	hgsc.bcm.edu	37	chr11	4825232	4825232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gagtgggaagcagatagccaCgtagcagtccagggccatag	15	9	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:4825232C>T	ENST00000356069.2	-	1	378	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V206M	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	127						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATAGCCACGTAGCAGTCC	0.557																																					p.V127M		Atlas-SNP	.											.	OR52R1	81	.	0			c.G379A						PASS	.						127	113	118					11																	4825232		2201	4298	6499	SO:0001583	missense	119695	exon1			TAGCCACGTAGCA	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.379G>A	11.37:g.4825232C>T	ENSP00000348368:p.Val127Met	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	36	12	0.333333	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438113	0.43326	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00366	7.79;7.79	5.42	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.182661	0.26731	N	0.022798	T	0.00936	0.0031	M	0.84773	2.715	0.29270	N	0.870731	D	0.89917	1.0	D	0.72338	0.977	T	0.15292	-1.0442	10	0.72032	D	0.01	.	9.1316	0.36848	0.1468:0.7743:0.0:0.079	.	127	Q8NGF1	O52R1_HUMAN	M	127;206	ENSP00000348368:V127M;ENSP00000369742:V206M	ENSP00000348368:V127M	V	-	1	0	OR52R1	4781808	0.001000	0.12720	0.999000	0.59377	0.167000	0.22549	0.028000	0.13644	2.826000	0.97356	0.650000	0.86243	GTG	.	.	none		0.557	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		T	4825232	C	T	4825232	3	4	40	1	0	0	0	0	1	0	0	0	11131	536	19	1	571	1	OR52R1	11	4825232	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	3571252	4825232	130181284	100	24257										
OR51I2	390064	hgsc.bcm.edu	37	chr11	5475352	5475352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccacctttggcatggacctgTtttttatcttcctctcctat	5	13	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:5475352T>C	ENST00000341449.2	+	1	715	c.634T>C	c.(634-636)Ttt>Ctt	p.F212L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	212					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGACCTGTTTTTTATCTT	0.478																																					p.F212L		Atlas-SNP	.											.	OR51I2	76	.	0			c.T634C						PASS	.						382	325	345					11																	5475352		2201	4297	6498	SO:0001583	missense	390064	exon1			GACCTGTTTTTTA	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.634T>C	11.37:g.5475352T>C	ENSP00000341987:p.Phe212Leu	Somatic	359	0	0		WXS	Illumina HiSeq	Phase_I	338	51	0.150888	NM_001004754	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.840977	0.00573	.	.	ENSG00000187918	ENST00000341449	T	0.32515	1.45	5.58	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.199250	0.06023	N	0.651698	T	0.04363	0.0120	N	0.00358	-1.6	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17289	-1.0374	10	0.02654	T	1	.	3.6162	0.08078	0.2624:0.4828:0.0785:0.1763	.	212	Q9H344	O51I2_HUMAN	L	212	ENSP00000341987:F212L	ENSP00000341987:F212L	F	+	1	0	OR51I2	5431928	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.134000	0.00148	-1.504000	0.01810	-0.256000	0.11100	TTT	.	.	none		0.478	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		C	5475352	T	C	5475352	3	2	40	1	0	0	0	0	1	0	0	0	11101	1725	60	2	636	2	OR51I2	11	5475352	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	650120	5475352	129531164	101	24258										
IPO7	10527	hgsc.bcm.edu	37	chr11	9459505	9459505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttacacagtggcttaatgatGttgactgtttcttggggtaa	11	5	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:9459505G>A	ENST00000379719.3	+	21	2615	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	825					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTTAATGATGTTGACTGTTT	0.313																																					p.V825I		Atlas-SNP	.											IPO7,NS,carcinoma,-1,1	IPO7	72	1	0			c.G2473A						PASS	.						79	76	77					11																	9459505		2201	4294	6495	SO:0001583	missense	10527	exon21			AATGATGTTGACT	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2473G>A	11.37:g.9459505G>A	ENSP00000369042:p.Val825Ile	Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	218	23	0.105505	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978231	0.34942	.	.	ENSG00000205339	ENST00000379719	T	0.64260	-0.09	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.058434	0.64402	D	0.000002	T	0.34106	0.0886	N	0.01438	-0.865	0.48830	D	0.99971	B	0.09022	0.002	B	0.10450	0.005	T	0.37407	-0.9707	10	0.07325	T	0.83	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	825	O95373	IPO7_HUMAN	I	825	ENSP00000369042:V825I	ENSP00000369042:V825I	V	+	1	0	IPO7	9416081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.085000	0.64468	2.270000	0.75569	0.460000	0.39030	GTT	.	.	none		0.313	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		A	9459505	G	A	9459505	3	1	40	1	0	0	0	0	1	0	0	0	7797	1377	48	2	2555	2	IPO7	11	9459505	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	3984153	9459505	125547011	102	24259										
LRRC4C	57689	hgsc.bcm.edu	37	chr11	40137801	40137801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gccctgttaaacctaggaccTatcattatctgctgtggatg	9	10	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:40137801T>C	ENST00000278198.2	-	2	2005	c.42A>G	c.(40-42)atA>atG	p.I14M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.I14M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I14M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I14M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	14					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCTAGGACCTATCATTATCT	0.473																																					p.I14M		Atlas-SNP	.											LRRC4C,NS,carcinoma,-1,1	LRRC4C	190	1	0			c.A42G						scavenged	.						103	104	103					11																	40137801		2203	4300	6503	SO:0001583	missense	57689	exon7			AGGACCTATCATT	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.42A>G	11.37:g.40137801T>C	ENSP00000278198:p.Ile14Met	Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	206	3	0.0145631	NM_001258419	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157634	0.57368	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.76	5.76	0.90799	.	0.051765	0.64402	D	0.000001	T	0.35278	0.0926	N	0.14661	0.345	0.44539	D	0.997491	P	0.36616	0.561	B	0.32289	0.143	T	0.24870	-1.0148	10	0.35671	T	0.21	.	15.2431	0.73485	0.0:0.0:0.0:1.0	.	14	Q9HCJ2	LRC4C_HUMAN	M	14	ENSP00000278198:I14M;ENSP00000436976:I14M;ENSP00000437132:I14M;ENSP00000434761:I14M	ENSP00000278198:I14M	I	-	3	3	LRRC4C	40094377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.194000	0.70268	0.528000	0.53228	ATA	.	.	none		0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40137801	T	C	40137801	3	2	40	1	0	0	0	0	1	0	0	0	9008	1512	53	3	1884	3	LRRC4C	11	40137801	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	30678296	40137801	94868715	103	24260										
OR8K5	219453	hgsc.bcm.edu	37	chr11	55927085	55927085	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggaaccacatgtggagaaagCctttttcctgccctctgcag	10	12	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:55927085C>G	ENST00000313447.1	-	1	708	c.709G>C	c.(709-711)Gct>Cct	p.A237P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																					p.A237P		Atlas-SNP	.											OR8K5,NS,carcinoma,0,2	OR8K5	82	2	1	Substitution - Missense(1)	lung(1)	c.G709C						PASS	.						85	80	82					11																	55927085		2201	4296	6497	SO:0001583	missense	219453	exon1			AGAAAGCCTTTTT	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>C	11.37:g.55927085C>G	ENSP00000323853:p.Ala237Pro	Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	143	16	0.111888	NM_001004058	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500187	0.44455	.	.	ENSG00000181752	ENST00000313447	T	0.00363	7.83	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.01592	0.0051	H	0.99454	4.575	0.32250	N	0.571499	D	0.69078	0.997	D	0.67231	0.95	T	0.02766	-1.1113	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	P	237	ENSP00000323853:A237P	ENSP00000323853:A237P	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT	.	.	none		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		G	55927085	C	G	55927085	3	3	40	1	0	0	0	0	1	0	0	0	11245	739	26	4	217	4	OR8K5	11	55927085	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	15789284	55927085	79079431	104	24261										
SHANK2	22941	hgsc.bcm.edu	37	chr11	70505972	70505972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtccttagtccggcttgccaCgccaccccaccttcatccac	6	20	1	0	rs141960453		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:70505972C>T	ENST00000423696.2	-	7	921	c.885G>A	c.(883-885)gcG>gcA	p.A295A	SHANK2_ENST00000449833.2_Silent_p.A86A|SHANK2_ENST00000409530.1_Silent_p.A85A|SHANK2_ENST00000357171.3_Silent_p.A86A|SHANK2_ENST00000449116.2_Silent_p.A86A|SHANK2_ENST00000409161.1_Silent_p.A85A|SHANK2_ENST00000338508.4_Silent_p.A675A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	295	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCTTGCCACGCCACCCCAC	0.577																																					p.A86A		Atlas-SNP	.											.	SHANK2	340	.	0			c.G258A						PASS	.	T	,	4,4396	8.1+/-20.4	0,4,2196	129	105	113		1876,258	-10	0.2	11	dbSNP_134	113	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	SHANK2	NM_012309.3,NM_133266.3	,	0,4,6490	TT,TC,CC		0.0,0.0909,0.0308	,	674/1850,86/1262	70505972	4,12984	2200	4294	6494	SO:0001819	synonymous_variant	22941	exon2			TTGCCACGCCACC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.885G>A	11.37:g.70505972C>T		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	139	83	0.597122	NM_133266	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.731|9.731	1.162196|1.162196	0.21538|0.21538	9.09E-4|9.09E-4	0.0|0.0	ENSG00000162105|ENSG00000162105	ENST00000426687|ENST00000412252	.|.	.|.	.|.	5.0|5.0	-9.99|-9.99	0.00435|0.00435	.|.	.|.	.|.	.|.	.|.	T|T	0.35595|0.35595	0.0937|0.0937	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45920|0.45920	-0.9228|-0.9228	4|4	.|.	.|.	.|.	.|.	3.5758|3.5758	0.07934|0.07934	0.1331:0.0985:0.2003:0.5681|0.1331:0.0985:0.2003:0.5681	.|.	.|.	.|.	.|.	H|M	84|85	.|.	.|.	R|V	-|-	2|1	0|0	SHANK2|SHANK2	70183620|70183620	0.000000|0.000000	0.05858|0.05858	0.244000|0.244000	0.24202|0.24202	0.980000|0.980000	0.70556|0.70556	-1.990000|-1.990000	0.01479|0.01479	-3.107000|-3.107000	0.00243|0.00243	-0.733000|-0.733000	0.03571|0.03571	CGT|GTG	C|1.000;T|0.000	0.000	weak		0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		T	70505972	C	T	70505972	2	4	40	1	0	0	0	0	0	0	0	1	14265	523	19	1		1	SHANK2	11	70505972	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	14578887	70505972	64500544	105	24262										
FAM181B	220382	hgsc.bcm.edu	37	chr11	82444591	82444591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gagtagatcgcgggtggcctCgcgcacgtcccctccttcgg	14	15	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:82444591C>T	ENST00000329203.3	-	1	315	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	61										large_intestine(1)|lung(2)|prostate(1)	4						CGGGTGGCCTCGCGCACGTCC	0.662																																					p.E61K		Atlas-SNP	.											.	FAM181B	14	.	0			c.G181A						PASS	.						25	22	23					11																	82444591		2202	4300	6502	SO:0001583	missense	220382	exon1			TGGCCTCGCGCAC	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.181G>A	11.37:g.82444591C>T	ENSP00000365295:p.Glu61Lys	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	64	42	0.65625	NM_175885	B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253538	0.59212	.	.	ENSG00000182103	ENST00000329203	T	0.34275	1.37	3.79	2.88	0.33553	.	0.080008	0.48767	N	0.000165	T	0.31263	0.0791	L	0.50333	1.59	0.50632	D	0.999889	P	0.45902	0.868	B	0.40677	0.337	T	0.05468	-1.0883	9	.	.	.	.	11.2366	0.48944	0.0:0.9085:0.0:0.0915	.	61	A6NEQ2	F181B_HUMAN	K	61	ENSP00000365295:E61K	.	E	-	1	0	FAM181B	82122239	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	6.310000	0.72830	0.794000	0.33899	-0.391000	0.06502	GAG	.	.	none		0.662	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		T	82444591	C	T	82444591	3	4	40	1	0	0	0	0	1	0	0	0	5509	893	31	1	1103	1	FAM181B	11	82444591	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	11938619	82444591	52561925	106	24263										
DLG2	1740	hgsc.bcm.edu	37	chr11	83770527	83770527	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cgcaagatacaatcattgacCctgcaaggaaggaaaagagt	10	8	1	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:83770527C>T	ENST00000532653.1	-	6	737	c.435G>A	c.(433-435)agG>agA	p.R145R	DLG2_ENST00000398309.2_Splice_Site_p.R145R|DLG2_ENST00000280241.8_Splice_Site_p.R184R|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000418306.2_Splice_Site_p.R94R|DLG2_ENST00000543673.1_Splice_Site_p.R250R|DLG2_ENST00000524982.1_Splice_Site_p.R145R|DLG2_ENST00000398301.2_Splice_Site_p.R184R|DLG2_ENST00000376104.2_Splice_Site_p.R250R|DLG2_ENST00000330014.6_Splice_Site_p.R84R|DLG2_ENST00000531015.1_Splice_Site_p.R112R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCATTGACCCTGCAAGGAA	0.433																																					p.R250R		Atlas-SNP	.											.	DLG2	448	.	0			c.G750A						PASS	.						54	48	50					11																	83770527		1878	4117	5995	SO:0001630	splice_region_variant	1740	exon11			ATTGACCCTGCAA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.435-1G>A	11.37:g.83770527C>T		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	84	20	0.238095	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37																																																																																				.	.	none		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	Silent	T	83770527	C	T	83770527	5	4	40	1	0	0	0	0	0	0	1	0	4555	637	22	2	2299	2	DLG2	11	83770527	Splice_Site	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	1325936	83770527	51235989	107	24264										
CTSC	1075	hgsc.bcm.edu	37	chr11	88070757	88070757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggtcaagataggtgcagttGgcaggtgtgtcgcagcgcac	16	8	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:88070757G>A	ENST00000227266.5	-	1	198	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000524463.1_Silent_p.A28A|CTSC_ENST00000529974.1_Silent_p.A28A	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	28					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGTGCAGTTGGCAGGTGTGT	0.667																																					p.A28A		Atlas-SNP	.											.	CTSC	46	.	0			c.C84T						PASS	.						19	19	19					11																	88070757		2196	4287	6483	SO:0001819	synonymous_variant	1075	exon1			GCAGTTGGCAGGT	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.84C>T	11.37:g.88070757G>A		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	194	23	0.118557	NM_148170	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	CCDS8282.1																																																																																			.	.	none		0.667	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		A	88070757	G	A	88070757	2	1	40	1	0	0	0	0	0	0	0	1	4031	1335	47	2		2	CTSC	11	88070757	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	4300230	88070757	46935759	108	24265										
ABCG4	64137	hgsc.bcm.edu	37	chr11	119031694	119031694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gggagccacagagcatcctcCgagcgctggatgtggaggat	16	10	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:119031694C>T	ENST00000449422.2	+	15	2007	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	ABCG4_ENST00000531739.1_Nonsense_Mutation_p.R607*|ABCG4_ENST00000307417.3_Nonsense_Mutation_p.R607*	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	607	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGCATCCTCCGAGCGCTGGA	0.577																																					p.R607X		Atlas-SNP	.											.	ABCG4	77	.	0			c.C1819T						PASS	.						109	95	99					11																	119031694		2200	4295	6495	SO:0001587	stop_gained	64137	exon15			ATCCTCCGAGCGC	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1819C>T	11.37:g.119031694C>T	ENSP00000406874:p.Arg607*	Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	164	41	0.25	NM_022169	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Nonsense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	40	8.193064	0.98699	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	.	.	.	5.42	5.42	0.78866	.	0.245301	0.41605	D	0.000850	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-1.6587	14.8887	0.70590	0.144:0.856:0.0:0.0	.	.	.	.	X	607	.	ENSP00000304111:R607X	R	+	1	2	ABCG4	118536904	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.098000	0.50259	2.552000	0.86080	0.561000	0.74099	CGA	.	.	none		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119031694	C	T	119031694	4	4	40	1	0	0	0	0	0	1	0	0	70	644	23	1	1873	1	ABCG4	11	119031694	Nonsense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	30960937	119031694	15974822	109	24266										
RPUSD4	84881	hgsc.bcm.edu	37	chr11	126081386	126081386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ttcccgtttctgggctcggaGcttctccgctaatctctggg	11	13	3	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:126081386G>A	ENST00000298317.4	-	1	201	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	FAM118B_ENST00000533050.1_5'UTR|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000360194.4_5'Flank|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000534393.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.L50F	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	50					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TGGGCTCGGAGCTTCTCCGCT	0.572																																					p.L50F		Atlas-SNP	.											.	RPUSD4	36	.	0			c.C148T						PASS	.						147	156	153					11																	126081386		2201	4299	6500	SO:0001583	missense	84881	exon1			CTCGGAGCTTCTC	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.148C>T	11.37:g.126081386G>A	ENSP00000298317:p.Leu50Phe	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	74	36	0.486486	NM_001144827	E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493570	0.44352	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.43688	2.69;2.49;0.94	5.31	3.44	0.39384	.	0.671765	0.14801	N	0.297611	T	0.60090	0.2242	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.68943	0.866;0.961	T	0.56390	-0.7987	10	0.45353	T	0.12	-22.2246	7.8321	0.29349	0.1845:0.0:0.8155:0.0	.	50;50	E9PML2;Q96CM3	.;RUSD4_HUMAN	F	50	ENSP00000298317:L50F;ENSP00000433065:L50F;ENSP00000433709:L50F	ENSP00000298317:L50F	L	-	1	0	RPUSD4	125586596	0.960000	0.32886	0.643000	0.29450	0.026000	0.11368	1.570000	0.36439	0.809000	0.34255	0.650000	0.86243	CTC	.	.	none		0.572	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		A	126081386	G	A	126081386	3	1	40	1	0	0	0	0	1	0	0	0	13669	971	34	2	1013	2	RPUSD4	11	126081386	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	7049692	126081386	8925130	110	24267										
SRPR	6734	hgsc.bcm.edu	37	chr11	126134971	126134971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtgtagggcactcaaacgccGggtgtgtgtacgcagctgct	15	10	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:126134971G>A	ENST00000332118.6	-	11	1562	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R442W	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	470					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTCAAACGCCGGGTGTGTGTA	0.542																																					p.R470W		Atlas-SNP	.											.	SRPR	60	.	0			c.C1408T						PASS	.						67	61	63					11																	126134971		2201	4299	6500	SO:0001583	missense	6734	exon11			AACGCCGGGTGTG	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1408C>T	11.37:g.126134971G>A	ENSP00000328023:p.Arg470Trp	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	68	17	0.25	NM_003139	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364665	0.95877	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.112768	0.64402	D	0.000006	D	0.85596	0.5733	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.88160	0.2857	9	0.87932	D	0	-12.8572	19.0619	0.93096	0.0:0.0:1.0:0.0	.	442;470	E9PJS4;P08240	.;SRPR_HUMAN	W	470;442	.	ENSP00000328023:R470W	R	-	1	2	SRPR	125640181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.411000	0.97342	2.744000	0.94065	0.650000	0.86243	CGG	.	.	none		0.542	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		A	126134971	G	A	126134971	3	1	40	1	0	0	0	0	1	0	0	0	15161	1115	39	1	524	1	SRPR	11	126134971	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	53585	126134971	8871545	111	24268										
KIRREL3	84623	hgsc.bcm.edu	37	chr11	126299147	126299147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccttgtggacaatttccactCggatatcatttttggctgac	8	10	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr11:126299147C>T	ENST00000525144.2	-	15	1982	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R566Q|KIRREL3_ENST00000416561.2_Missense_Mutation_p.R45Q	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	578					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATTTCCACTCGGATATCATT	0.453																																					p.R578Q		Atlas-SNP	.											.	KIRREL3	183	.	0			c.G1733A						PASS	.						97	101	99					11																	126299147		1946	4141	6087	SO:0001583	missense	84623	exon15			TCCACTCGGATAT	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1733G>A	11.37:g.126299147C>T	ENSP00000435466:p.Arg578Gln	Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	108	19	0.175926	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627850	0.96671	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.79554	-0.67;-0.42;-1.28	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.86871	0.6037	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.71674	0.998;0.995	D;P	0.66602	0.945;0.837	D	0.87215	0.2250	10	0.66056	D	0.02	-4.7594	19.7415	0.96232	0.0:1.0:0.0:0.0	.	566;578	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	Q	578;566;45	ENSP00000435466:R578Q;ENSP00000434081:R566Q;ENSP00000408692:R45Q	ENSP00000408692:R45Q	R	-	2	0	KIRREL3	125804357	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.487000	0.81328	2.668000	0.90789	0.561000	0.74099	CGA	.	.	none		0.453	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126299147	C	T	126299147	3	4	40	1	0	0	0	0	1	0	0	0	8326	884	31	1	615	1	KIRREL3	11	126299147	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	164176	126299147	8707369	112	24269										
SCNN1A	6337	hgsc.bcm.edu	37	chr12	6457289	6457289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	accagtatcggcttcggaacCttcggagcagcatgaggaac	12	11	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:6457289C>T	ENST00000228916.2	-	13	1858	c.1760G>A	c.(1759-1761)aGg>aAg	p.R587K	SCNN1A_ENST00000358945.3_Missense_Mutation_p.R609K|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R610K|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R287K|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R646K|SCNN1A_ENST00000396966.2_3'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	587					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCTTCGGAACCTTCGGAGCAG	0.622																																					p.R646K		Atlas-SNP	.											.	SCNN1A	54	.	0			c.G1937A						PASS	.						53	53	53					12																	6457289		2203	4300	6503	SO:0001583	missense	6337	exon12			CGGAACCTTCGGA	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1760G>A	12.37:g.6457289C>T	ENSP00000228916:p.Arg587Lys	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	107	49	0.457944	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810468	0.50421	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.71817	-0.54;-0.6;-0.33;-0.5;-0.53	4.54	3.63	0.41609	.	0.092333	0.44688	D	0.000423	T	0.64789	0.2630	M	0.74881	2.28	0.25856	N	0.983882	B;B;B	0.28512	0.214;0.214;0.208	B;B;B	0.22152	0.031;0.018;0.038	T	0.58662	-0.7597	10	0.40728	T	0.16	-30.2911	7.5852	0.27989	0.0:0.7999:0.0:0.2001	.	610;587;646	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	K	646;609;287;587;610	ENSP00000353292:R646K;ENSP00000351825:R609K;ENSP00000440876:R287K;ENSP00000228916:R587K;ENSP00000438739:R610K	ENSP00000228916:R587K	R	-	2	0	SCNN1A	6327550	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	2.385000	0.44371	2.090000	0.63153	0.561000	0.74099	AGG	.	.	none		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6457289	C	T	6457289	3	4	40	1	0	0	0	0	1	0	0	0	13927	681	24	2	253	2	SCNN1A	12	6457289	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		6457289	127394606	113	24270										
C1S	716	hgsc.bcm.edu	37	chr12	7172542	7172542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccaagtggtggtgaccttgcGgagagaagattttgatgtgg	16	5	0	4	rs147341600		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:7172542G>A	ENST00000406697.1	+	9	1284	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	C1S_ENST00000402681.3_Missense_Mutation_p.R52Q|C1S_ENST00000360817.5_Missense_Mutation_p.R219Q|C1S_ENST00000328916.3_Missense_Mutation_p.R219Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	219	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGACCTTGCGGAGAGAAGAT	0.468																																					p.R219Q	GBM(156;750 1943 12971 24779 31015)	Atlas-SNP	.											.	C1S	93	.	0			c.G656A						PASS	.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	135	138	137		656,656	-2.4	0.1	12	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	C1S	NM_001734.3,NM_201442.2	43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	219/689,219/689	7172542	3,13003	2203	4300	6503	SO:0001583	missense	716	exon6			CCTTGCGGAGAGA		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.656G>A	12.37:g.7172542G>A	ENSP00000385035:p.Arg219Gln	Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	129	20	0.155039	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	0.179	-1.063860	0.01934	0.0	3.49E-4	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	6.17	-2.39	0.06602	CUB (5);	0.630882	0.13151	N	0.409855	T	0.07279	0.0184	N	0.12611	0.24	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.40194	-0.9576	10	0.02654	T	1	.	12.9992	0.58666	0.6693:0.0:0.3307:0.0	.	219	P09871	C1S_HUMAN	Q	219;219;219;52;52	ENSP00000385035:R219Q;ENSP00000328173:R219Q;ENSP00000354057:R219Q;ENSP00000384171:R52Q;ENSP00000442298:R52Q	ENSP00000328173:R219Q	R	+	2	0	C1S	7042803	0.001000	0.12720	0.060000	0.19600	0.161000	0.22273	-0.248000	0.08854	-0.286000	0.09076	-0.345000	0.07892	CGG	G|1.000;A|0.000	0.000	weak		0.468	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7172542	G	A	7172542	3	1	40	1	0	0	0	0	1	0	0	0	1974	1116	39	1	674	1	C1S	12	7172542	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	715253	7172542	126679353	114	24271										
PRB4	5545	hgsc.bcm.edu	37	chr12	11461692	11461692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggtcgtccttctggctttccTggaggaggtgggggaccttg	17	9	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:11461692T>C	ENST00000535904.1	-	3	258	c.225A>G	c.(223-225)ccA>ccG	p.P75P	PRB4_ENST00000445719.2_Silent_p.P75P|PRB4_ENST00000279575.1_Silent_p.P75P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	96	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGCTTTCCTGGAGGAGGTG	0.612										HNSCC(22;0.051)																											p.P75P		Atlas-SNP	.											PRB4,caecum,carcinoma,-1,2	PRB4	59	2	0			c.A225G						scavenged	.						291	319	310					12																	11461692		2203	4300	6503	SO:0001819	synonymous_variant	5545	exon3			CTTTCCTGGAGGA		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.225A>G	12.37:g.11461692T>C		Somatic	229	3	0.0131004		WXS	Illumina HiSeq	Phase_I	272	15	0.0551471	NM_001261399	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	CCDS8641.1																																																																																			.	.	none		0.612	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		C	11461692	T	C	11461692	2	2	40	1	0	0	0	0	0	0	0	1	12445	1567	55	3		3	PRB4	12	11461692	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	4289150	11461692	122390203	115	24272										
PRB2	653247	hgsc.bcm.edu	37	chr12	11545937	11545937	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctttcctggaggagatcgggCacttcgggacttgctgcctc	13	12	0	1	rs367874175	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:11545937C>G	ENST00000389362.4	-	3	1110	c.1075G>C	c.(1075-1077)Gcc>Ccc	p.A359P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	359	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATCGGGCACTTCGGGAC	0.602																																					p.A359P		Atlas-SNP	.											PRB2_ENST00000389362,brain,glioma,0,2	PRB2	168	2	0			c.G1075C						scavenged	.						206	230	222					12																	11545937		2203	4300	6503	SO:0001583	missense	653247	exon3			ATCGGGCACTTCG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1075G>C	12.37:g.11545937C>G	ENSP00000374013:p.Ala359Pro	Somatic	830	10	0.0120482		WXS	Illumina HiSeq	Phase_I	985	30	0.0304569	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.864195	0.00552	.	.	ENSG00000121335	ENST00000389362	T	0.03358	3.96	0.862	-1.72	0.08107	.	.	.	.	.	T	0.01387	0.0045	N	0.01705	-0.755	0.09310	N	1	B	0.20780	0.048	B	0.19391	0.025	T	0.46048	-0.9219	9	0.27785	T	0.31	.	4.4192	0.11472	0.3727:0.6273:0.0:0.0	.	359	P02812	PRB2_HUMAN	P	359	ENSP00000374013:A359P	ENSP00000374013:A359P	A	-	1	0	PRB2	11437204	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-2.967000	0.00669	-1.539000	0.01732	-1.549000	0.00901	GCC	.	.	weak		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		G	11545937	C	G	11545937	3	3	40	1	0	0	0	0	1	0	0	0	12443	710	25	4	179	4	PRB2	12	11545937	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	84245	11545937	122305958	116	24273										
NAV3	89795	hgsc.bcm.edu	37	chr12	78400358	78400358	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	acacagtgccacctccaccaTgttgactgtaaagcagtcaa	7	13	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:78400358T>A	ENST00000397909.2	+	8	1213	c.1040T>A	c.(1039-1041)aTg>aAg	p.M347K	NAV3_ENST00000536525.2_Missense_Mutation_p.M347K|NAV3_ENST00000266692.7_Missense_Mutation_p.M347K|NAV3_ENST00000228327.6_Missense_Mutation_p.M347K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	347						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCTCCACCATGTTGACTGTA	0.562										HNSCC(70;0.22)																											p.M347K		Atlas-SNP	.											.	NAV3	506	.	0			c.T1040A						PASS	.						61	63	62					12																	78400358		2101	4221	6322	SO:0001583	missense	89795	exon8			CCACCATGTTGAC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1040T>A	12.37:g.78400358T>A	ENSP00000381007:p.Met347Lys	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	89	16	0.179775	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.57|17.57	3.423239|3.423239	0.62733|0.62733	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.39592	.|1.07;1.07;1.07;1.07;1.07	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.48767	.|U	.|0.000174	T|T	0.57621|0.57621	0.2066|0.2066	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|D;D	.|0.62365	.|0.973;0.991	.|D;P	.|0.64042	.|0.921;0.73	T|T	0.60255|0.60255	-0.7299|-0.7299	5|10	.|0.72032	.|D	.|0.01	-19.3128|-19.3128	15.804|15.804	0.78477|0.78477	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|347;347	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	Q|K	170|347	.|ENSP00000446628:M347K;ENSP00000446132:M347K;ENSP00000381007:M347K;ENSP00000228327:M347K;ENSP00000266692:M347K	.|ENSP00000228327:M347K	H|M	+|+	3|2	2|0	NAV3|NAV3	76924489|76924489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.632000|0.632000	0.37999|0.37999	5.998000|5.998000	0.70653|0.70653	2.138000|2.138000	0.66242|0.66242	0.459000|0.459000	0.35465|0.35465	CAT|ATG	.	.	none		0.562	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78400358	T	A	78400358	3	1	40	1	0	0	0	0	1	0	0	0	10185	1464	51	5	1070	5	NAV3	12	78400358	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	66854421	78400358	55451537	117	24274										
LRRIQ1	84125	hgsc.bcm.edu	37	chr12	85459141	85459141	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cttcgacgctgtggattaacTtctttgcacagcctgagtaa	9	10	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:85459141T>G	ENST00000393217.2	+	9	2554	c.2493T>G	c.(2491-2493)acT>acG	p.T831T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	831										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGGATTAACTTCTTTGCACA	0.363																																					p.T831T		Atlas-SNP	.											.	LRRIQ1	512	.	0			c.T2493G						PASS	.						126	121	123					12																	85459141		2203	4300	6503	SO:0001819	synonymous_variant	84125	exon9			ATTAACTTCTTTG	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2493T>G	12.37:g.85459141T>G		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	96	28	0.291667	NM_001079910	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																			.	.	none		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		G	85459141	T	G	85459141	2	3	40	1	0	0	0	0	0	0	0	1	9029	1596	56	5		5	LRRIQ1	12	85459141	Silent	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	7058783	85459141	48392754	118	24275										
BTG1	694	hgsc.bcm.edu	37	chr12	92539203	92539203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gctctggctgaaggtctgcaGctgtcgctcgctcgtgagcc	14	13	2	2	rs369374957		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:92539203G>A	ENST00000256015.3	-	1	470	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	37					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.L37L(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				AAGGTCTGCAGCTGTCGCTCG	0.677			T	MYC	BCLL																																p.L37L		Atlas-SNP	.		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	BTG1,NS,lymphoid_neoplasm,0,3	BTG1	30	3	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C109T						PASS	.						38	41	40					12																	92539203		2203	4300	6503	SO:0001819	synonymous_variant	694	exon1			TCTGCAGCTGTCG		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.109C>T	12.37:g.92539203G>A		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	141	65	0.460993	NM_001731	P31607	Silent	SNP	ENST00000256015.3	37	CCDS9043.1																																																																																			.	.	alt		0.677	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			A	92539203	G	A	92539203	2	1	40	1	0	0	0	0	0	0	0	1	1553	962	34	2		2	BTG1	12	92539203	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	7080062	92539203	41312692	119	24276										
DTX1	1840	hgsc.bcm.edu	37	chr12	113496024	113496024	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cggccaggccacggtgggctGatgcctgtgaatggtctggg	18	10	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:113496024G>C	ENST00000257600.3	+	1	530	c.27G>C	c.(25-27)ctG>ctC	p.L9L		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	9					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACGGTGGGCTGATGCCTGTGA	0.697																																					p.L9L		Atlas-SNP	.											.	DTX1	83	.	0			c.G27C						PASS	.						48	39	42					12																	113496024		2200	4298	6498	SO:0001819	synonymous_variant	1840	exon1			TGGGCTGATGCCT	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.27G>C	12.37:g.113496024G>C		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	71	26	0.366197	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.	.	none		0.697	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			C	113496024	G	C	113496024	2	2	40	1	0	0	0	0	0	0	0	1	4793	1277	45	4		4	DTX1	12	113496024	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	20956821	113496024	20355871	120	24277			3	112		3	3	178	N	G_A	3.953106e-07
DTX1	1840	hgsc.bcm.edu	37	chr12	113496139	113496139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cggccaccgtgtgccaccacAttgagaacgtgctgaaggag	13	12	0	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:113496139A>T	ENST00000257600.3	+	1	645	c.142A>T	c.(142-144)Att>Ttt	p.I48F		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	48	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGCCACCACATTGAGAACGT	0.652																																					p.I48F		Atlas-SNP	.											.	DTX1	83	.	0			c.A142T						PASS	.						110	96	100					12																	113496139		2203	4300	6503	SO:0001583	missense	1840	exon1			CACCACATTGAGA	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.142A>T	12.37:g.113496139A>T	ENSP00000257600:p.Ile48Phe	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	61	19	0.311475	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824981	0.90955	.	.	ENSG00000135144	ENST00000257600	T	0.64438	-0.1	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.79275	0.4418	M	0.84683	2.71	0.53688	D	0.999976	D	0.69078	0.997	D	0.79108	0.992	T	0.82697	-0.0329	10	0.87932	D	0	-2.9711	11.9027	0.52692	1.0:0.0:0.0:0.0	.	48	Q86Y01	DTX1_HUMAN	F	48	ENSP00000257600:I48F	ENSP00000257600:I48F	I	+	1	0	DTX1	111980522	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	8.407000	0.90218	1.644000	0.50603	0.454000	0.30748	ATT	.	.	none		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113496139	A	T	113496139	3	4	40	1	0	0	0	0	1	0	0	0	4793	217	8	5	144	5	DTX1	12	113496139	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	115	113496139	20355756	121	24278			3	112		3	3	178	N	G_A	3.953106e-07
DTX1	1840	hgsc.bcm.edu	37	chr12	113496201	113496201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctggggcaggtggacgcccaGcttgtgccctacatcatcga	13	13	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:113496201G>A	ENST00000257600.3	+	1	707	c.204G>A	c.(202-204)caG>caA	p.Q68Q		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	68	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGGACGCCCAGCTTGTGCCCT	0.662																																					p.Q68Q		Atlas-SNP	.											DTX1,NS,lymphoid_neoplasm,+1,1	DTX1	83	1	0			c.G204A						PASS	.						124	114	117					12																	113496201		2203	4300	6503	SO:0001819	synonymous_variant	1840	exon1			CGCCCAGCTTGTG	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.204G>A	12.37:g.113496201G>A		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.	.	none		0.662	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			A	113496201	G	A	113496201	2	1	40	1	0	0	0	0	0	0	0	1	4793	962	34	2		2	DTX1	12	113496201	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	62	113496201	20355694	122	24279			3	112		3	3	178	N	G_A	3.953106e-07
PUS1	80324	hgsc.bcm.edu	37	chr12	132426407	132426407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cgcagccttcaaggaggagcAcatctaccccaccatcatcg	8	16	3	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr12:132426407A>G	ENST00000376649.3	+	5	1615	c.1115A>G	c.(1114-1116)cAc>cGc	p.H372R	PUS1_ENST00000542167.2_Missense_Mutation_p.H319R|PUS1_ENST00000443358.2_Missense_Mutation_p.H344R|PUS1_ENST00000440818.2_Missense_Mutation_p.H344R|PUS1_ENST00000535067.1_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	372					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGAGGAGCACATCTACCCC	0.612																																					p.H372R	Esophageal Squamous(102;671 2009 17384 45666)	Atlas-SNP	.											.	PUS1	47	.	0			c.A1115G						PASS	.						93	66	75					12																	132426407		2203	4300	6503	SO:0001583	missense	80324	exon5			AGGAGCACATCTA	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1115A>G	12.37:g.132426407A>G	ENSP00000365837:p.His372Arg	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	89	37	0.41573	NM_025215	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	A	12.24	1.877457	0.33162	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54675	0.57;0.56;0.57;0.57;0.56	5.17	5.17	0.71159	.	0.357746	0.33075	N	0.005309	T	0.49321	0.1550	L	0.51914	1.62	0.37582	D	0.919854	B;B	0.19073	0.016;0.033	B;B	0.19946	0.026;0.027	T	0.53005	-0.8499	10	0.48119	T	0.1	-8.4957	14.9932	0.71406	1.0:0.0:0.0:0.0	.	319;372	F5H1S9;Q9Y606	.;TRUA_HUMAN	R	344;372;344;344;319	ENSP00000392451:H344R;ENSP00000365837:H372R;ENSP00000324726:H344R;ENSP00000400032:H344R;ENSP00000438948:H319R	ENSP00000324726:H344R	H	+	2	0	PUS1	130992360	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	7.383000	0.79741	1.947000	0.56498	0.402000	0.26972	CAC	.	.	none		0.612	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		G	132426407	A	G	132426407	3	3	40	1	0	0	0	0	1	0	0	0	12830	159	6	2	1133	2	PUS1	12	132426407	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	18930206	132426407	1425488	123	24280										
TPTE2	93492	hgsc.bcm.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		Atlas-SNP	.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2	225	1	1	Substitution - Missense(1)	kidney(1)	c.A128C						scavenged	.						52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492	exon5			AGTCGTTCTAACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala	Somatic	346	3	0.00867052		WXS	Illumina HiSeq	Phase_I	234	6	0.025641	NM_199254	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA	.	.	weak		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	40	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10		20056679	95113199	124	24281										
SACS	26278	hgsc.bcm.edu	37	chr13	23913163	23913163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tacatctataaatggtttgaActgattaggaaattttctaa	6	4	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr13:23913163A>G	ENST00000382292.3	-	9	5125	c.4852T>C	c.(4852-4854)Ttc>Ctc	p.F1618L	SACS_ENST00000382298.3_Missense_Mutation_p.F1618L|SACS_ENST00000402364.1_Missense_Mutation_p.F868L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1618					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGGTTTGAACTGATTAGGA	0.338																																					p.F1618L		Atlas-SNP	.											.	SACS	871	.	0			c.T4852C						PASS	.						91	88	89					13																	23913163		2203	4299	6502	SO:0001583	missense	26278	exon10			GTTTGAACTGATT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4852T>C	13.37:g.23913163A>G	ENSP00000371729:p.Phe1618Leu	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	65	24	0.369231	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058297	0.76074	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94793	-3.52;-3.52;-3.52	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	L	0.55481	1.735	0.53688	D	0.999977	P	0.39717	0.684	P	0.48334	0.574	D	0.94681	0.7865	10	0.52906	T	0.07	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1618	Q9NZJ4	SACS_HUMAN	L	1618;868;1618	ENSP00000371729:F1618L;ENSP00000385844:F868L;ENSP00000371735:F1618L	ENSP00000371729:F1618L	F	-	1	0	SACS	22811163	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.962000	0.93254	2.228000	0.72767	0.533000	0.62120	TTC	.	.	none		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23913163	A	G	23913163	3	3	40	1	0	0	0	0	1	0	0	0	13804	43	2	2	8891	2	SACS	13	23913163	Missense_Mutation	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	3856484	23913163	91256715	125	24282										
SLITRK1	114798	hgsc.bcm.edu	37	chr13	84454425	84454425	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtagcgatgttattgttgccCagatccaacagaatgaggtt	11	7	0	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr13:84454425C>A	ENST00000377084.2	-	1	2103	c.1218G>T	c.(1216-1218)ctG>ctT	p.L406L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	406					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TATTGTTGCCCAGATCCAACA	0.453																																					p.L406L		Atlas-SNP	.											.	SLITRK1	196	.	0			c.G1218T						PASS	.						235	228	231					13																	84454425		2203	4300	6503	SO:0001819	synonymous_variant	114798	exon1			GTTGCCCAGATCC	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1218G>T	13.37:g.84454425C>A		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	106	33	0.311321	NM_052910	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																			.	.	none		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454425	C	A	84454425	2	1	40	1	0	0	0	0	0	0	0	1	14742	581	21	4		4	SLITRK1	13	84454425	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	60541262	84454425	30715453	126	24283										
VPS13C	54832	hgsc.bcm.edu	37	chr15	62256044	62256044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gaacttttaccttgaatcttGatttcggcgatattgttctt	7	7	2	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr15:62256044G>C	ENST00000261517.5	-	32	3394	c.3321C>G	c.(3319-3321)atC>atG	p.I1107M	VPS13C_ENST00000395896.4_Missense_Mutation_p.I1107M|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1064M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1064M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTGAATCTTGATTTCGGCGA	0.343																																					p.I1107M		Atlas-SNP	.											.	VPS13C	506	.	0			c.C3321G						PASS	.						117	107	110					15																	62256044		2202	4300	6502	SO:0001583	missense	54832	exon32			AATCTTGATTTCG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3321C>G	15.37:g.62256044G>C	ENSP00000261517:p.Ile1107Met	Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	149	127	0.852349	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.941870	0.53079	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46819	0.86;0.86;0.86	5.66	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.70595	2.14	0.51012	D	0.999901	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.976;0.986;0.99;0.997	T	0.68704	-0.5338	10	0.48119	T	0.1	.	17.3263	0.87248	0.0:0.0:0.8664:0.1336	.	1064;1107;1064;1107	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1064;1107;1107;1107	ENSP00000249837:I1064M;ENSP00000261517:I1107M;ENSP00000379233:I1107M	ENSP00000249837:I1064M	I	-	3	3	VPS13C	60043336	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.484000	0.45242	2.656000	0.90262	0.655000	0.94253	ATC	.	.	none		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62256044	G	C	62256044	3	2	40	1	0	0	0	0	1	0	0	0	17188	1280	45	4	8184	4	VPS13C	15	62256044	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		62256044	40275348	127	24284										
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1255246	1255246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	acccgtacaacatcttcgacGgcatcatcgtggtcatcagg	9	13	4	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr16:1255246G>A	ENST00000348261.5	+	11	2832	c.2584G>A	c.(2584-2586)Ggc>Agc	p.G862S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G862S|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G862S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	862					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCTTCGACGGCATCATCGT	0.602																																					p.G862S		Atlas-SNP	.											.	CACNA1H	317	.	0			c.G2584A						PASS	.						85	88	87					16																	1255246		2054	4196	6250	SO:0001583	missense	8912	exon11			TTCGACGGCATCA	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2584G>A	16.37:g.1255246G>A	ENSP00000334198:p.Gly862Ser	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	35	16	0.457143	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612304	0.28712	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98362	-4.89;-4.89	3.93	3.93	0.45458	Ion transport (1);	0.179382	0.49305	D	0.000150	D	0.97145	0.9067	L	0.47716	1.5	0.44302	D	0.997171	P;D	0.58268	0.808;0.982	B;P	0.50270	0.17;0.636	D	0.96334	0.9246	10	0.33940	T	0.23	.	15.1309	0.72523	0.0:0.0:1.0:0.0	.	862;862	O95180-2;O95180	.;CAC1H_HUMAN	S	862	ENSP00000334198:G862S;ENSP00000351401:G862S	ENSP00000334198:G862S	G	+	1	0	CACNA1H	1195247	0.999000	0.42202	0.721000	0.30653	0.300000	0.27592	2.892000	0.48625	2.034000	0.60081	0.655000	0.94253	GGC	.	.	none		0.602	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1255246	G	A	1255246	3	1	40	1	0	0	0	0	1	0	0	0	2545	1116	39	1	2622	1	CACNA1H	16	1255246	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		1255246	89099507	128	24285										
DNASE1L2	1775	hgsc.bcm.edu	37	chr16	2287821	2287821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgcagctatgtgcgggcgcaGgactgggccgccatccgtct	15	13	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr16:2287821G>A	ENST00000564065.1	+	5	1646	c.645G>A	c.(643-645)caG>caA	p.Q215Q	DNASE1L2_ENST00000567494.1_Silent_p.Q215Q|DNASE1L2_ENST00000382437.4_Silent_p.Q194Q|RP11-304L19.12_ENST00000564055.1_lincRNA|RP11-304L19.11_ENST00000565709.1_RNA|DNASE1L2_ENST00000320700.5_Silent_p.Q215Q			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	215					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						TGCGGGCGCAGGACTGGGCCG	0.672																																					p.Q215Q		Atlas-SNP	.											.	DNASE1L2	14	.	0			c.G645A						PASS	.						19	24	22					16																	2287821		2092	4205	6297	SO:0001819	synonymous_variant	1775	exon6			GGCGCAGGACTGG	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.645G>A	16.37:g.2287821G>A		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	50	20	0.4	NM_001374	E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	CCDS42105.1																																																																																			.	.	none		0.672	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374		A	2287821	G	A	2287821	2	1	40	1	0	0	0	0	0	0	0	1	4662	991	35	2		2	DNASE1L2	16	2287821	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1032575	2287821	88066932	129	24286										
TRIM72	260434	hgsc.bcm.edu	37	chr16	31230671	31230671	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gggcaagatgcgggtgttccTggctgcactggagggctcct	17	10	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr16:31230671T>C	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.L183P|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CGGGTGTTCCTGGCTGCACTG	0.652																																					p.L183P		Atlas-SNP	.											.	TRIM72	32	.	0			c.T548C						PASS	.						51	54	53					16																	31230671		2197	4299	6496	SO:0001631	upstream_gene_variant	493829	exon4			TGTTCCTGGCTGC		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230671T>C	Exception_encountered	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	62	11	0.177419	NM_001008274	B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242510	0.79912	.	.	ENSG00000177238	ENST00000322122	T	0.72725	-0.68	5.37	5.37	0.77165	.	0.117745	0.36893	N	0.002344	T	0.80470	0.4629	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	T	0.82806	-0.0275	10	0.87932	D	0	.	14.3504	0.66697	0.0:0.0:0.0:1.0	.	183	Q6ZMU5	TRI72_HUMAN	P	183	ENSP00000312675:L183P	ENSP00000312675:L183P	L	+	2	0	TRIM72	31138172	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	4.888000	0.63164	2.024000	0.59613	0.533000	0.62120	CTG	.	.	none		0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		C	31230671	T	C	31230671	1	2	40	0	1	0	0	0	0	0	0	0	16542	1580	55	3		3	TRIM72	16	31230671	5'Flank	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	28942850	31230671	59124082	130	24287										
ADAMTS18	170692	hgsc.bcm.edu	37	chr16	77401400	77401400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gatggtgatactctgtctctCgactctgagatgcatgggga	13	8	3	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr16:77401400C>T	ENST00000282849.5	-	4	1134	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	239					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCTGTCTCTCGACTCTGAGA	0.478																																					p.R239Q		Atlas-SNP	.											.	ADAMTS18	270	.	0			c.G716A						PASS	.						87	81	83					16																	77401400		2198	4300	6498	SO:0001583	missense	170692	exon4			GTCTCTCGACTCT	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.716G>A	16.37:g.77401400C>T	ENSP00000282849:p.Arg239Gln	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	127	63	0.496063	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000444	0.02128	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.60171	0.21;2.84	4.72	-5.52	0.02560	.	0.875294	0.10159	N	0.708571	T	0.16514	0.0397	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36065	-0.9763	10	0.05436	T	0.98	.	4.9243	0.13885	0.0857:0.2003:0.4601:0.2538	.	239	Q8TE60	ATS18_HUMAN	Q	239	ENSP00000282849:R239Q;ENSP00000392540:R239Q	ENSP00000282849:R239Q	R	-	2	0	ADAMTS18	75958901	0.001000	0.12720	0.013000	0.15412	0.205000	0.24178	-0.509000	0.06336	-0.592000	0.05851	-3.097000	0.00064	CGA	.	.	none		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77401400	C	T	77401400	3	4	40	1	0	0	0	0	1	0	0	0	263	884	31	1	3029	1	ADAMTS18	16	77401400	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	46170729	77401400	12953353	131	24288										
TP53	7157	hgsc.bcm.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R248W	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,adenocarcinoma,+1,1635	TP53	33396	1635	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	c.C742T	GRCh37	CM010465|CM900211	TP53	M	rs121912651	PASS	.						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GCCTCCGGTTCAT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	44	30	0.681818	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	.	.	weak		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	40	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		7577539	73617671	132	24289										
PER1	5187	hgsc.bcm.edu	37	chr17	8053822	8053822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aggaggagctgtgtgagctcCgctgagatgcgcctctagac	15	10	1	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:8053822C>T	ENST00000317276.4	-	2	440	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PER1_ENST00000354903.5_Missense_Mutation_p.R52Q|PER1_ENST00000581082.1_Missense_Mutation_p.R68Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	68	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGTGAGCTCCGCTGAGATGC	0.582			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																													p.R68Q		Atlas-SNP	.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	PER1	104	.	0			c.G203A						PASS	.						114	103	106					17																	8053822		2203	4300	6503	SO:0001583	missense	5187	exon2			GAGCTCCGCTGAG	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.203G>A	17.37:g.8053822C>T	ENSP00000314420:p.Arg68Gln	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	44	25	0.568182	NM_002616	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013101	0.54468	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.36699	2.65;1.24	5.16	3.97	0.46021	.	0.063176	0.64402	D	0.000013	T	0.14013	0.0339	N	0.11064	0.09	0.38309	D	0.943193	B;P;B	0.48640	0.028;0.913;0.44	B;B;B	0.36378	0.006;0.223;0.022	T	0.06789	-1.0807	10	0.13470	T	0.59	-18.8514	7.9228	0.29857	0.0:0.8031:0.0:0.1969	.	68;52;68	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	68;52	ENSP00000314420:R68Q;ENSP00000346979:R52Q	ENSP00000314420:R68Q	R	-	2	0	PER1	7994547	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	1.762000	0.38451	2.405000	0.81733	0.563000	0.77884	CGG	.	.	none		0.582	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			T	8053822	C	T	8053822	3	4	40	1	0	0	0	0	1	0	0	0	11729	652	23	1	3757	1	PER1	17	8053822	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	476283	8053822	73141388	133	24290										
STAT3	6774	hgsc.bcm.edu	37	chr17	40475063	40475063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	aagtgaaagtgacgcctcctTctttgctgctttcactgaat	8	10	2	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:40475063T>C	ENST00000264657.5	-	20	2159	c.1847A>G	c.(1846-1848)gAa>gGa	p.E616G	STAT3_ENST00000404395.3_Missense_Mutation_p.E616G|STAT3_ENST00000389272.3_Missense_Mutation_p.E518G|STAT3_ENST00000588969.1_Missense_Mutation_p.E616G|STAT3_ENST00000585517.1_Missense_Mutation_p.E616G	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	616	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GACGCCTCCTTCTTTGCTGCT	0.562									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E616G		Atlas-SNP	.											STAT3,NS,lymphoid_neoplasm,-1,1	STAT3	268	1	0			c.A1847G						PASS	.						129	120	123					17																	40475063		2203	4300	6503	SO:0001583	missense	6774	exon20	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	CCTCCTTCTTTGC	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1847A>G	17.37:g.40475063T>C	ENSP00000264657:p.Glu616Gly	Somatic	87	0	0	893	WXS	Illumina HiSeq	Phase_I	76	25	0.328947	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175244	0.78564	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.89343	-2.5;-2.5;-2.5	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	L	0.49126	1.545	0.80722	D	1	P;P;P	0.44344	0.8;0.833;0.833	B;B;B	0.39258	0.195;0.295;0.295	D	0.87270	0.2285	10	0.52906	T	0.07	-26.4272	15.3873	0.74711	0.0:0.0:0.0:1.0	.	616;616;616	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	G	616;518;616	ENSP00000264657:E616G;ENSP00000373923:E518G;ENSP00000384943:E616G	ENSP00000264657:E616G	E	-	2	0	STAT3	37728589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.846000	0.86887	2.221000	0.72209	0.533000	0.62120	GAA	.	.	none		0.562	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		C	40475063	T	C	40475063	3	2	40	1	0	0	0	0	1	0	0	0	15265	1783	62	2	485	2	STAT3	17	40475063	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	32421241	40475063	40720147	134	24291										
ITGB3	3690	hgsc.bcm.edu	37	chr17	45369814	45369814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtcagcccgtctgcagccagCggggcgagtgcctctgtggt	16	13	3	0	rs145572861	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:45369814C>T	ENST00000559488.1	+	10	1586	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	ITGB3_ENST00000435993.2_Missense_Mutation_p.R477W|ITGB3_ENST00000560629.1_Missense_Mutation_p.A512V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	524	Cysteine-rich tandem repeats.				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)	CTGCAGCCAGCGGGGCGAGTG	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18639	0.001		0.0	False		,,,				2504	0.0				p.R524W		Atlas-SNP	.											.	ITGB3	157	.	0			c.C1570T						PASS	.	C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	88	81	84		1570	4.4	1	17	dbSNP_134	84	0,8600		0,0,4300	yes	missense	ITGB3	NM_000212.2	101	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	524/789	45369814	5,13001	2203	4300	6503	SO:0001583	missense	3690	exon10			AGCCAGCGGGGCG		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.1570C>T	17.37:g.45369814C>T	ENSP00000452786:p.Arg524Trp	Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	41	17	0.414634	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.68	3.872407	0.72180	0.001135	0.0	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.99329	-5.75	5.38	4.39	0.52855	EGF, extracellular (1);	0.055231	0.64402	D	0.000002	D	0.99450	0.9805	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98771	1.0728	10	0.87932	D	0	.	11.7475	0.51828	0.4384:0.5616:0.0:0.0	.	524	P05106	ITB3_HUMAN	W	524;477	ENSP00000407801:R477W	ENSP00000262017:R524W	R	+	1	2	C17orf57	42724813	0.931000	0.31567	1.000000	0.80357	0.940000	0.58332	0.075000	0.14686	1.240000	0.43803	0.462000	0.41574	CGG	C|1.000;T|0.000	0.000	strong		0.617	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		T	45369814	C	T	45369814	3	4	40	1	0	0	0	0	1	0	0	0	7895	759	27	1	1608	1	ITGB3	17	45369814	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	4894751	45369814	35825396	135	24292										
SPATA20	64847	hgsc.bcm.edu	37	chr17	48631644	48631644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	cagagcccagcgccaattccGtgtcagcccacaacctgctc	8	18	1	1	rs200274697		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:48631644G>A	ENST00000356488.4	+	14	2025	c.1942G>A	c.(1942-1944)Gtg>Atg	p.V648M	CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000393244.3_Missense_Mutation_p.V604M|SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.V664M|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	648					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGCCAATTCCGTGTCAGCCCA	0.627																																					p.V664M		Atlas-SNP	.											.	SPATA20	59	.	0			c.G1990A						PASS	.						109	77	88					17																	48631644		2203	4300	6503	SO:0001583	missense	64847	exon15			AATTCCGTGTCAG		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1942G>A	17.37:g.48631644G>A	ENSP00000348878:p.Val648Met	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	75	38	0.506667	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	26.5	4.744792	0.89663	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.64085	-0.08;-0.08;-0.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.83774	2.66	0.80722	D	1	D;D	0.65815	0.995;0.972	P;P	0.55713	0.781;0.782	T	0.80865	-0.1191	10	0.56958	D	0.05	-22.9431	18.4943	0.90858	0.0:0.0:1.0:0.0	.	648;664	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	664;648;604	ENSP00000006658:V664M;ENSP00000348878:V648M;ENSP00000376935:V604M	ENSP00000006658:V664M	V	+	1	0	SPATA20	45986643	1.000000	0.71417	0.853000	0.33588	0.785000	0.44390	7.586000	0.82596	2.467000	0.83353	0.561000	0.74099	GTG	G|1.000;A|0.000	0.000	strong		0.627	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48631644	G	A	48631644	3	1	40	1	0	0	0	0	1	0	0	0	15005	1145	40	1	2048	1	SPATA20	17	48631644	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	3261830	48631644	32563566	136	24293										
CD79B	974	hgsc.bcm.edu	37	chr17	62006798	62006798	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctgcccctctccttacctcgTaggtgtgatcttcctccatg	7	16	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:62006798T>A	ENST00000006750.3	-	5	679	c.587A>T	c.(586-588)tAc>tTc	p.Y196F	CD79B_ENST00000392795.3_Missense_Mutation_p.Y197F|CD79B_ENST00000349817.2_Missense_Mutation_p.Y92F	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	196	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y196C(1)|p.Y196F(1)|p.Y196S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CCTTACCTCGTAGGTGTGATC	0.632			"Mis, O"		DLBCL																																p.Y197F		Atlas-SNP	.		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,NS,lymphoid_neoplasm,-1,13	CD79B	38	13	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.A590T						scavenged	.						93	74	81					17																	62006798		2203	4300	6503	SO:0001583	missense	974	exon5			ACCTCGTAGGTGT	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.587A>T	17.37:g.62006798T>A	ENSP00000006750:p.Tyr196Phe	Somatic	84	1	0.0119048		WXS	Illumina HiSeq	Phase_I	51	40	0.784314	NM_001039933	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930227	0.52866	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	D;D;D	0.96587	-4.06;-4.06;-4.06	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.95601	0.8570	N	0.24115	0.695	0.43426	D	0.995588	D;D	0.76494	0.996;0.999	D;D	0.85130	0.986;0.997	D	0.95387	0.8478	10	0.87932	D	0	-12.4743	9.5968	0.39578	0.0:0.0:0.0:1.0	.	92;196	P40259-2;P40259	.;CD79B_HUMAN	F	92;197;196	ENSP00000245862:Y92F;ENSP00000376544:Y197F;ENSP00000006750:Y196F	ENSP00000006750:Y196F	Y	-	2	0	CD79B	59360530	0.997000	0.39634	0.977000	0.42913	0.245000	0.25701	3.902000	0.56310	1.782000	0.52362	0.358000	0.22013	TAC	.	.	none		0.632	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			A	62006798	T	A	62006798	3	1	40	1	0	0	0	0	1	0	0	0	3037	1638	57	5	110	5	CD79B	17	62006798	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10	13375154	62006798	19188412	137	24294										
CCDC46	201134	hgsc.bcm.edu	37	chr17	64125942	64125942	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gattttttcgaataaacttcCtgaaatacaaaagggaaaaa	6	5	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:64125942C>A	ENST00000392769.2	-	6	783		c.e6-1		CEP112_ENST00000537949.1_Splice_Site|CEP112_ENST00000535342.2_Splice_Site	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa						receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AATAAACTTCCTGAAATACAa	0.333																																					.		Atlas-SNP	.											.	CEP112	192	.	0			c.565-1G>T						PASS	.						59	60	60					17																	64125942		2202	4299	6501	SO:0001630	splice_region_variant	201134	exon7			AACTTCCTGAAAT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.565-1G>T	17.37:g.64125942C>A		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	290	141	0.486207	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Splice_Site	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843859	0.32606	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5104	0.67784	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP112	61556404	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	4.453000	0.60061	2.493000	0.84123	0.650000	0.86243	.	.	.	none		0.333	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	Intron	A	64125942	C	A	64125942	5	1	40	1	0	0	0	0	0	0	1	0	2817	695	24	4	2557	4	CCDC46	17	64125942	Splice_Site	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	2119144	64125942	17069268	138	24295										
SDK2	54549	hgsc.bcm.edu	37	chr17	71434182	71434182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gcctcacactcgtagtagccGgcgtcactgccggtggggtt	14	13	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:71434182G>A	ENST00000392650.3	-	7	837	c.837C>T	c.(835-837)gcC>gcT	p.A279A	SDK2_ENST00000388726.3_Silent_p.A279A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	279	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGTAGTAGCCGGCGTCACTGC	0.632																																					p.A279A		Atlas-SNP	.											.	SDK2	219	.	0			c.C837T						PASS	.						28	38	35					17																	71434182		692	1591	2283	SO:0001819	synonymous_variant	54549	exon7			GTAGCCGGCGTCA	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.837C>T	17.37:g.71434182G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	48	20	0.416667	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	2.222	-0.378123	0.05000	.	.	ENSG00000069188	ENST00000416616	.	.	.	5.05	-0.688	0.11317	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44421	-0.9329	4	.	.	.	.	7.8147	0.29252	0.3879:0.104:0.5081:0.0	.	.	.	.	W	184	.	.	R	-	1	2	SDK2	68945777	0.123000	0.22298	0.968000	0.41197	0.041000	0.13682	-0.401000	0.07232	-0.292000	0.08999	-2.620000	0.00156	CGG	.	.	none		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71434182	G	A	71434182	2	1	40	1	0	0	0	0	0	0	0	1	13969	1103	39	1		1	SDK2	17	71434182	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	7308240	71434182	9761028	139	24296										
FADS6	283985	hgsc.bcm.edu	37	chr17	72889676	72889677	+	In_Frame_Ins	INS	-	-	GGCTCCGTAGGTTCCATC													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	tgggctccgtaggttccatgINSggctccgtgggttccatgga					rs4319809|rs1625113	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr17:72889676_72889677insGGCTCCGTAGGTTCCATC	ENST00000310226.6	-	1	31_32	c.17_18insGATGGAACCTACGGAGCC	c.(16-18)ccc>ccGATGGAACCTACGGAGCCc	p.6_6P>PMEPTEP		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	12	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TAGGTTCCATGGGCTCCGTGGG	0.728																																					p.P6delinsPMEPTEP		Pindel,Atlas-Indel	.											FADS6_ENST00000310226,caecum,carcinoma,0,2	FADS6	55	2	0			c.18_19insGATGGAACCTACGGAGCC						PASS	.																																			SO:0001652	inframe_insertion	283985	exon1			.	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.17_18insGATGGAACCTACGGAGCC	17.37:g.72889676_72889677insGGCTCCGTAGGTTCCATC	ENSP00000307821:p.MetGluProThrGluPro12dup	Somatic	106	.	.		WXS	Illumina HiSeq	Phase_I	70	22	0.314	NM_178128	Q17RQ7|Q6XYE1	In_Frame_Ins	INS	ENST00000310226.6	37	CCDS54163.1																																																																																			.	.	none		0.728	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			GGCTCCGTAGGTTCCATC	72889677	-	GGCTCCGTAGGTTCCATC	72889676	7	5	40	1	0	1	1	0	0	0	0	0	5368	1335	47	0	1058	0	FADS6	17	72889676	In_Frame_Ins	INS	-	TCGA-RQ-AAAT-01A-11D-A38X-10	1455494	72889676	8305534	140	24297										
NFATC1	4772	hgsc.bcm.edu	37	chr18	77156301	77156301	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ggtcttcgggagaggagaaaCtttggggcccgcgccgcgcg	18	11	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr18:77156301C>G	ENST00000427363.2	+	1	77	c.77C>G	c.(76-78)aCt>aGt	p.T26S	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.T26S|NFATC1_ENST00000542384.1_Missense_Mutation_p.T26S|NFATC1_ENST00000591814.1_Missense_Mutation_p.T26S|NFATC1_ENST00000253506.5_Missense_Mutation_p.T26S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	26					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AGAGGAGAAACTTTggggccc	0.731																																					p.T26S	GBM(151;1210 2593 28719 45011)	Atlas-SNP	.											.	NFATC1	105	.	0			c.C77G						PASS	.						6	6	6					18																	77156301		2092	4172	6264	SO:0001583	missense	4772	exon1			GAGAAACTTTGGG	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.77C>G	18.37:g.77156301C>G	ENSP00000389377:p.Thr26Ser	Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	96	23	0.239583	NM_172390	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	-	3.969	-0.008806	0.07727	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384	T;T	0.13538	3.0;2.58	2.46	-0.0619	0.13783	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.36432	-0.9748	9	0.22706	T	0.39	.	9.1199	0.36780	0.0:0.5714:0.4286:0.0	.	26;26;26;26	B5B2M6;O95644;B5B2M4;Q2M1S3	.;NFAC1_HUMAN;.;.	S	26	ENSP00000253506:T26S;ENSP00000442435:T26S	ENSP00000253506:T26S	T	+	2	0	NFATC1	75257289	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	0.909000	0.28558	0.139000	0.18822	0.437000	0.28790	ACT	.	.	none		0.731	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		G	77156301	C	G	77156301	3	3	40	1	0	0	0	0	1	0	0	0	10361	565	20	4	79	4	NFATC1	18	77156301	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		77156301	920947	141	24298										
ZNRF4	148066	hgsc.bcm.edu	37	chr19	5455866	5455866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	atctgccggcgctgttcggcGtccccctggcccccgagggc	14	18	1	0	rs375118147		TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:5455866G>A	ENST00000222033.4	+	1	441	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	122						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTGTTCGGCGTCCCCCTGGC	0.682																																					p.V122I		Atlas-SNP	.											.	ZNRF4	59	.	0			c.G364A						PASS	.	G	ILE/VAL	0,4210		0,0,2105	47	55	53		364	-0.8	0	19		53	1,8419		0,1,4209	no	missense	ZNRF4	NM_181710.3	29	0,1,6314	AA,AG,GG		0.0119,0.0,0.0079	benign	122/430	5455866	1,12629	2105	4210	6315	SO:0001583	missense	148066	exon1			TTCGGCGTCCCCC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.364G>A	19.37:g.5455866G>A	ENSP00000222033:p.Val122Ile	Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	26	7	0.269231	NM_181710	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237362	0.05944	0.0	1.19E-4	ENSG00000105428	ENST00000222033	T	0.04862	3.54	4.55	-0.827	0.10802	.	0.557882	0.16640	U	0.205677	T	0.04048	0.0113	L	0.40543	1.245	0.09310	N	1	B	0.30211	0.273	B	0.17722	0.019	T	0.35943	-0.9768	10	0.37606	T	0.19	.	3.753	0.08573	0.0962:0.4131:0.3402:0.1505	.	122	Q8WWF5	ZNRF4_HUMAN	I	122	ENSP00000222033:V122I	ENSP00000222033:V122I	V	+	1	0	ZNRF4	5406866	0.073000	0.21202	0.001000	0.08648	0.045000	0.14185	0.594000	0.24014	0.004000	0.14682	-0.424000	0.05967	GTC	.	.	weak		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		A	5455866	G	A	5455866	3	1	40	1	0	0	0	0	1	0	0	0	18211	1145	40	1	366	1	ZNRF4	19	5455866	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10		5455866	53673117	142	24299										
MCOLN1	57192	hgsc.bcm.edu	37	chr19	7593558	7593558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtccttcctcctctgcgcccGctcactccttcgaggcttcc	7	20	2	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:7593558G>A	ENST00000264079.6	+	8	1078	c.953G>A	c.(952-954)cGc>cAc	p.R318H		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	318					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTGCGCCCGCTCACTCCTT	0.637																																					p.R318H		Atlas-SNP	.											MCOLN1,colon,carcinoma,+1,1	MCOLN1	54	1	0			c.G953A						PASS	.						151	94	113					19																	7593558		2203	4300	6503	SO:0001583	missense	57192	exon8			GCGCCCGCTCACT	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.953G>A	19.37:g.7593558G>A	ENSP00000264079:p.Arg318His	Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	118	52	0.440678	NM_020533	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170229	0.78452	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.83992	-1.79	5.32	5.32	0.75619	.	0.050554	0.85682	D	0.000000	D	0.91436	0.7297	M	0.87682	2.9	0.80722	D	1	D;D	0.63880	0.993;0.976	D;P	0.63381	0.914;0.717	D	0.92856	0.6301	10	0.87932	D	0	.	16.4854	0.84183	0.0:0.0:1.0:0.0	.	283;318	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	H	318;283	ENSP00000264079:R318H	ENSP00000264079:R318H	R	+	2	0	MCOLN1	7499558	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.602000	0.82796	2.492000	0.84095	0.563000	0.77884	CGC	.	.	none		0.637	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		A	7593558	G	A	7593558	3	1	40	1	0	0	0	0	1	0	0	0	9395	1087	38	1	983	1	MCOLN1	19	7593558	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	2137692	7593558	51535425	143	24300										
CD97	976	hgsc.bcm.edu	37	chr19	14512523	14512523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtcactatgggtcagagcagCgcacgcatgaagctgaattg	13	9	2	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:14512523C>T	ENST00000242786.5	+	11	1214	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	CD97_ENST00000358600.3_Silent_p.S285S|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.S329S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	378					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTCAGAGCAGCGCACGCATGA	0.622																																					p.S378S		Atlas-SNP	.											.	CD97	86	.	0			c.C1134T						PASS	.						66	54	58					19																	14512523		2203	4300	6503	SO:0001819	synonymous_variant	976	exon11			GAGCAGCGCACGC		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1134C>T	19.37:g.14512523C>T		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	57	22	0.385965	NM_078481	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	CCDS32929.1																																																																																			.	.	none		0.622	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		T	14512523	C	T	14512523	2	4	40	1	0	0	0	0	0	0	0	1	3049	767	27	1		1	CD97	19	14512523	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	6918965	14512523	44616460	144	24301										
SLC1A6	6511	hgsc.bcm.edu	37	chr19	15073065	15073065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctggttccgttctccactgaGaatggaggaggcatggaggc	15	9	1	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:15073065G>T	ENST00000221742.3	-	5	691	c.684C>A	c.(682-684)ttC>ttA	p.F228L	SLC1A6_ENST00000598504.1_Missense_Mutation_p.F228L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.F164L|SLC1A6_ENST00000544886.2_Missense_Mutation_p.F228L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.F228L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	228					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCTCCACTGAGAATGGAGGAG	0.567																																					p.F228L		Atlas-SNP	.											.	SLC1A6	111	.	0			c.C684A						PASS	.						111	105	107					19																	15073065		2203	4300	6503	SO:0001583	missense	6511	exon8			CACTGAGAATGGA		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.684C>A	19.37:g.15073065G>T	ENSP00000221742:p.Phe228Leu	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	70	30	0.428571	NM_001272087	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	3.890	-0.024160	0.07634	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.69306	-0.39;0.67;1.4	4.42	0.947	0.19555	.	0.359970	0.28332	N	0.015725	T	0.31009	0.0783	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17098	0.017;0.0;0.0	T	0.25012	-1.0144	10	0.08179	T	0.78	-12.7775	5.5234	0.16945	0.3711:0.0:0.6289:0.0	.	164;228;228	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	L	164;228;228	ENSP00000409386:F164L;ENSP00000221742:F228L;ENSP00000446175:F228L	ENSP00000221742:F228L	F	-	3	2	SLC1A6	14934065	0.812000	0.29077	0.300000	0.25030	0.783000	0.44284	0.099000	0.15210	0.513000	0.28278	0.454000	0.30748	TTC	.	.	none		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15073065	G	T	15073065	3	4	40	1	0	0	0	0	1	0	0	0	14436	933	33	4	1030	4	SLC1A6	19	15073065	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	560542	15073065	44055918	145	24302										
MAP1S	55201	hgsc.bcm.edu	37	chr19	17838807	17838807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccctggcccgccccaactcaCgcgctgccgcccccaaagcc	8	24	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:17838807C>T	ENST00000324096.4	+	5	2765	c.2614C>T	c.(2614-2616)Cgc>Tgc	p.R872C	MAP1S_ENST00000544059.2_Missense_Mutation_p.R846C|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	872	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCCCAACTCACGCGCTGCCGC	0.682																																					p.R872C		Atlas-SNP	.											.	MAP1S	74	.	0			c.C2614T						PASS	.						8	10	10					19																	17838807		2151	4207	6358	SO:0001583	missense	55201	exon5			AACTCACGCGCTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2614C>T	19.37:g.17838807C>T	ENSP00000325313:p.Arg872Cys	Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	68	20	0.294118	NM_018174	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467034	0.43839	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19105	2.17;2.17	4.99	-3.27	0.05048	.	2.214490	0.01791	N	0.032329	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P;P	0.52692	0.955;0.955	B;B	0.41723	0.365;0.365	T	0.20874	-1.0262	10	0.56958	D	0.05	-1.5835	4.9983	0.14251	0.3404:0.2807:0.3789:0.0	.	846;872	B4DH53;Q66K74	.;MAP1S_HUMAN	C	872;846	ENSP00000325313:R872C;ENSP00000439243:R846C	ENSP00000325313:R872C	R	+	1	0	MAP1S	17699807	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.283000	0.18846	-0.338000	0.08413	-1.053000	0.02334	CGC	.	.	none		0.682	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17838807	C	T	17838807	3	4	40	1	0	0	0	0	1	0	0	0	9234	536	19	1	2632	1	MAP1S	19	17838807	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	2765742	17838807	41290176	146	24303										
CILP2	148113	hgsc.bcm.edu	37	chr19	19651184	19651184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gccgtccgccgtcggcgagcGcgtgcacttgaaccccacgc	13	18	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:19651184G>A	ENST00000291495.5	+	3	420	c.335G>A	c.(334-336)cGc>cAc	p.R112H	CILP2_ENST00000586018.1_Missense_Mutation_p.R118H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	112						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTCGGCGAGCGCGTGCACTTG	0.721																																					p.R112H		Atlas-SNP	.											.	CILP2	84	.	0			c.G335A						PASS	.						5	6	6					19																	19651184		2017	4033	6050	SO:0001583	missense	148113	exon3			GCGAGCGCGTGCA	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.335G>A	19.37:g.19651184G>A	ENSP00000291495:p.Arg112His	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	35	15	0.428571	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615674	0.87359	.	.	ENSG00000160161	ENST00000291495	T	0.17370	2.28	4.27	4.27	0.50696	.	0.142510	0.44097	D	0.000481	T	0.28632	0.0709	L	0.42245	1.32	0.35344	D	0.786743	D;D	0.71674	0.994;0.998	P;D	0.66716	0.866;0.946	T	0.25984	-1.0116	10	0.42905	T	0.14	-2.4888	9.6583	0.39939	0.0:0.0:0.7916:0.2083	.	112;112	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	112	ENSP00000291495:R112H	ENSP00000291495:R112H	R	+	2	0	CILP2	19512184	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.229000	0.51278	1.937000	0.56155	0.306000	0.20318	CGC	.	.	none		0.721	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19651184	G	A	19651184	3	1	40	1	0	0	0	0	1	0	0	0	3430	1087	38	1	345	1	CILP2	19	19651184	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1812377	19651184	39477799	147	24304										
LGALS13	29124	hgsc.bcm.edu	37	chr19	40095831	40095831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccctcagcaatgacccacagCtgcaggtggatttctacact	8	14	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:40095831C>A	ENST00000221797.4	+	3	151	c.106C>A	c.(106-108)Ctg>Atg	p.L36M		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	36	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGACCCACAGCTGCAGGTGGA	0.517																																					p.L36M		Atlas-SNP	.											.	LGALS13	22	.	0			c.C106A						PASS	.						143	112	122					19																	40095831		2203	4300	6503	SO:0001583	missense	29124	exon3			CCACAGCTGCAGG	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.106C>A	19.37:g.40095831C>A	ENSP00000221797:p.Leu36Met	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	78	19	0.24359	NM_013268	C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.562868	0.27915	.	.	ENSG00000105198	ENST00000221797	T	0.05996	3.36	0.744	-1.35	0.09114	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.15998	0.0385	M	0.66506	2.035	0.19775	N	0.99996	D	0.60160	0.987	D	0.65874	0.939	T	0.09015	-1.0694	8	0.56958	D	0.05	.	.	.	.	.	36	Q9UHV8	PP13_HUMAN	M	36	ENSP00000221797:L36M	ENSP00000221797:L36M	L	+	1	2	LGALS13	44787671	0.038000	0.19896	0.434000	0.26772	0.452000	0.32318	-1.528000	0.02225	-0.386000	0.07821	0.305000	0.20034	CTG	.	.	none		0.517	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		A	40095831	C	A	40095831	3	1	40	1	0	0	0	0	1	0	0	0	8740	796	28	4	116	4	LGALS13	19	40095831	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	20444647	40095831	19033152	148	24305										
ATP1A3	478	hgsc.bcm.edu	37	chr19	42485704	42485704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ctcagccactttcttgttgcGttcacgcatcagcttcacgg	8	14	5	0	rs150785666	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:42485704G>A	ENST00000302102.5	-	11	1537	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	ATP1A3_ENST00000602133.1_Missense_Mutation_p.R433C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.R476C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R474C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	463					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTCTTGTTGCGTTCACGCATC	0.552																																					p.R476C		Atlas-SNP	.											.	ATP1A3	117	.	0			c.C1426T						PASS	.	G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	113	96	102		1387	3.9	1	19	dbSNP_134	102	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ATP1A3	NM_152296.3	180	0,10,6493	AA,AG,GG		0.0814,0.0681,0.0769	possibly-damaging	463/1014	42485704	10,12996	2203	4300	6503	SO:0001583	missense	478	exon11			TGTTGCGTTCACG		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1387C>T	19.37:g.42485704G>A	ENSP00000302397:p.Arg463Cys	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	78	34	0.435897	NM_001256214	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824059	0.71143	6.81E-4	8.14E-4	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	3.88	3.88	0.44766	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.240845	0.39834	N	0.001256	D	0.94896	0.8350	L	0.37750	1.13	0.54753	D	0.999989	P;P;D;P	0.71674	0.951;0.628;0.998;0.679	P;P;P;P	0.62813	0.762;0.483;0.907;0.617	D	0.94166	0.7419	10	0.87932	D	0	.	9.0984	0.36653	0.0:0.0:0.7817:0.2183	.	476;474;463;463	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	463;463;476;433;207;474	ENSP00000302397:R463C;ENSP00000411503:R463C;ENSP00000444688:R476C;ENSP00000437577:R474C	ENSP00000302397:R463C	R	-	1	0	ATP1A3	47177544	0.309000	0.24518	0.966000	0.40874	0.990000	0.78478	2.548000	0.45794	2.449000	0.82847	0.561000	0.74099	CGC	G|0.999;A|0.001	0.001	strong		0.552	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42485704	G	A	42485704	3	1	40	1	0	0	0	0	1	0	0	0	1130	1145	40	1	1706	1	ATP1A3	19	42485704	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	2389873	42485704	16643279	149	24306										
ZNF552	79818	hgsc.bcm.edu	37	chr19	58320162	58320162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	catgcaacttacacctcttcGcaaacaacgcctcctcaaca	3	17	2	0	rs576029108	byFrequency	TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr19:58320162G>A	ENST00000391701.1	-	3	639	c.470C>T	c.(469-471)gCg>gTg	p.A157V	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACACCTCTTCGCAAACAACGC	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21428	0.0		0.0	False		,,,				2504	0.0				p.A157V		Atlas-SNP	.											ZNF552,NS,carcinoma,+1,1	ZNF552	32	1	0			c.C470T						PASS	.						162	155	157					19																	58320162		2203	4300	6503	SO:0001583	missense	79818	exon3			CTCTTCGCAAACA	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.470C>T	19.37:g.58320162G>A	ENSP00000375582:p.Ala157Val	Somatic	462	1	0.0021645		WXS	Illumina HiSeq	Phase_I	302	81	0.268212	NM_024762	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.870767	0.00542	.	.	ENSG00000178935	ENST00000391701	T	0.04083	3.71	1.96	-0.803	0.10886	.	.	.	.	.	T	0.01592	0.0051	N	0.04043	-0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46665	-0.9175	9	0.02654	T	1	.	2.7839	0.05368	0.6156:0.0:0.163:0.2214	.	153;157	B7Z1H1;Q9H707	.;ZN552_HUMAN	V	157	ENSP00000375582:A157V	ENSP00000375582:A157V	A	-	2	0	ZNF552	63011974	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.431000	0.06965	0.022000	0.15160	-1.451000	0.01035	GCG	.	.	none		0.478	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		A	58320162	G	A	58320162	3	1	40	1	0	0	0	0	1	0	0	0	17981	1087	38	1	757	1	ZNF552	19	58320162	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	15834458	58320162	808821	150	24307										
C20orf3	57136	hgsc.bcm.edu	37	chr20	24959519	24959519	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	agagcgggggttctttgaagCtgcaaaataatgcaattcca	11	7	1	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr20:24959519C>T	ENST00000217456.2	-	3	503		c.e3-1		APMAP_ENST00000447138.1_Splice_Site	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein						biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TTCTTTGAAGCTGCAAAATAA	0.438																																					.		Atlas-SNP	.											.	APMAP	3	.	0			c.213-1G>A						PASS	.						45	48	47					20																	24959519		2203	4300	6503	SO:0001630	splice_region_variant	57136	exon4			TTGAAGCTGCAAA	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.213-1G>A	20.37:g.24959519C>T		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	44	21	0.477273	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Splice_Site	SNP	ENST00000217456.2	37	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116208	0.77323	.	.	ENSG00000101474	ENST00000451442;ENST00000217456;ENST00000447138	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0204	0.80478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf3	24907519	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.018000	0.76406	2.642000	0.89623	0.561000	0.74099	.	.	.	none		0.438	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531	Intron	T	24959519	C	T	24959519	5	4	40	1	0	0	0	0	0	0	1	0	2109	811	28	2	1066	2	C20orf3	20	24959519	Splice_Site	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		24959519	38066001	151	24308										
RAB22A	57403	hgsc.bcm.edu	37	chr20	56928537	56928537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gaaagagcttcgacagcatgGcccacctaatattgtagttg	10	9	0	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr20:56928537G>A	ENST00000244040.3	+	5	601	c.320G>A	c.(319-321)gGc>gAc	p.G107D		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	107					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CGACAGCATGGCCCACCTAAT	0.368																																					p.G107D		Atlas-SNP	.											.	RAB22A	15	.	0			c.G320A						PASS	.						116	110	112					20																	56928537		2203	4300	6503	SO:0001583	missense	57403	exon5			AGCATGGCCCACC	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"RAB, member RAS oncogene"	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.320G>A	20.37:g.56928537G>A	ENSP00000244040:p.Gly107Asp	Somatic	213	0	0		WXS	Illumina HiSeq	Phase_I	207	84	0.405797	NM_020673	B3KR86|E1P605|Q8TF12|Q9H4E6	Missense_Mutation	SNP	ENST00000244040.3	37	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970755	0.92919	.	.	ENSG00000124209	ENST00000244040	T	0.76448	-1.02	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85299	0.1072	10	0.87932	D	0	-23.3447	20.3081	0.98638	0.0:0.0:1.0:0.0	.	107	Q9UL26	RB22A_HUMAN	D	107	ENSP00000244040:G107D	ENSP00000244040:G107D	G	+	2	0	RAB22A	56361943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.795000	0.96236	0.655000	0.94253	GGC	.	.	none		0.368	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			A	56928537	G	A	56928537	3	1	40	1	0	0	0	0	1	0	0	0	12909	1203	42	2	338	2	RAB22A	20	56928537	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	31969018	56928537	6096983	152	24309										
NPEPL1	79716	hgsc.bcm.edu	37	chr20	57269609	57269609	+	Silent	SNP	G	G	A													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	accgtggagtttttcctggtGggacaagacaacgggccggt							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr20:57269609G>A	ENST00000356091.6	+	3	756	c.468G>A	c.(466-468)gtG>gtA	p.V156V	NPEPL1_ENST00000525967.1_Silent_p.V128V|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.V108V	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	156						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TTTTCCTGGTGGGACAAGACA	0.667																																					p.V156V		Atlas-SNP	.											.	NPEPL1	36	.	0			c.G468A						PASS	.						30	32	32					20																	57269609		1950	4143	6093	SO:0001819	synonymous_variant	79716	exon3			CCTGGTGGGACAA	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.468G>A	20.37:g.57269609G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	72	31	0.430556	NM_024663	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	37	CCDS46621.1																																																																																			.	.	none		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		A	57269609	G	A	57269609	2	1	40	1	0	0	0	0	0	0	0	1	10574	1335	47	2		2	NPEPL1	20	57269609	Silent	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	341072	57269609	5755911	153	24310	501	2								
NPEPL1	79716	hgsc.bcm.edu	37	chr20	57269610	57269610	+	Missense_Mutation	SNP	G	G	A													0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccgtggagtttttcctggtgGgacaagacaacgggccggtg							TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr20:57269610G>A	ENST00000356091.6	+	3	757	c.469G>A	c.(469-471)Gga>Aga	p.G157R	NPEPL1_ENST00000525967.1_Missense_Mutation_p.G129R|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.G109R	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	157						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TTTCCTGGTGGGACAAGACAA	0.667																																					p.G157R		Atlas-SNP	.											.	NPEPL1	36	.	0			c.G469A						PASS	.						30	32	31					20																	57269610		1953	4145	6098	SO:0001583	missense	79716	exon3			CTGGTGGGACAAG	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.469G>A	20.37:g.57269610G>A	ENSP00000348395:p.Gly157Arg	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	71	31	0.43662	NM_024663	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742333	0.49151	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.32023	1.47;1.49;1.48	4.62	3.66	0.41972	.	0.052273	0.85682	D	0.000000	T	0.46639	0.1403	M	0.76328	2.33	0.51233	D	0.999914	P;P;P;D	0.54207	0.823;0.839;0.848;0.965	B;P;B;P	0.57283	0.374;0.583;0.374;0.817	T	0.41858	-0.9485	10	0.18710	T	0.47	-9.0519	13.1398	0.59428	0.0:0.0:0.8389:0.1611	.	157;109;129;157	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	R	129;109;157	ENSP00000434810:G129R;ENSP00000437112:G109R;ENSP00000348395:G157R	ENSP00000348395:G157R	G	+	1	0	NPEPL1	56703017	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	9.409000	0.97331	0.931000	0.37242	-0.320000	0.08662	GGA	.	.	none		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		A	57269610	G	A	57269610	3	1	40	1	0	0	0	0	1	0	0	0	10574	1233	43	2	325	2	NPEPL1	20	57269610	Missense_Mutation	SNP	G	TCGA-RQ-AAAT-01A-11D-A38X-10	1	57269610	5755910	154	24311	501	2								
SON	6651	hgsc.bcm.edu	37	chr21	34922547	34922547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtcatctgcaattgaagcgcTaagattgccagagcagcctg	11	10	2	3			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr21:34922547T>C	ENST00000356577.4	+	3	1485	c.1010T>C	c.(1009-1011)cTa>cCa	p.L337P	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.L337P|SON_ENST00000381679.4_Missense_Mutation_p.L337P|SON_ENST00000290239.6_Missense_Mutation_p.L337P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	337					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTGAAGCGCTAAGATTGCCA	0.502											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L337P		Atlas-SNP	.											.	SON	343	.	0			c.T1010C						PASS	.						105	110	108					21																	34922547		2203	4300	6503	SO:0001583	missense	6651	exon3			AAGCGCTAAGATT	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1010T>C	21.37:g.34922547T>C	ENSP00000348984:p.Leu337Pro	Somatic	70	0	0	851	WXS	Illumina HiSeq	Phase_I	67	21	0.313433	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672860	0.29693	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.16597	2.52;2.5;2.49;2.33	5.54	0.00568	0.14064	.	0.517188	0.16322	N	0.219526	T	0.21062	0.0507	L	0.29908	0.895	0.30562	N	0.764394	D;D;B	0.89917	0.999;1.0;0.126	D;D;B	0.69824	0.925;0.966;0.069	T	0.13872	-1.0493	10	0.36615	T	0.2	.	4.9548	0.14033	0.463:0.0843:0.0:0.4526	.	337;337;337	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	P	337	ENSP00000348984:L337P;ENSP00000290239:L337P;ENSP00000300278:L337P;ENSP00000371095:L337P	ENSP00000290239:L337P	L	+	2	0	SON	33844417	0.001000	0.12720	0.908000	0.35775	0.992000	0.81027	-0.017000	0.12590	0.059000	0.16252	-0.527000	0.04329	CTA	.	.	none		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34922547	T	C	34922547	3	2	40	1	0	0	0	0	1	0	0	0	14926	1522	53	3	1020	3	SON	21	34922547	Missense_Mutation	SNP	T	TCGA-RQ-AAAT-01A-11D-A38X-10		34922547	13207348	155	24312										
DEPDC5	9681	hgsc.bcm.edu	37	chr22	32257381	32257381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	ccttctttatggagtttgtcCgcagcccacgcacagcatcg	9	14	1	0			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chr22:32257381C>T	ENST00000382112.3	+	32	3335	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000539165.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R1020C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1098C|DEPDC5_ENST00000494060.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1098C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1098					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGAGTTTGTCCGCAGCCCACG	0.577																																					p.R1098C		Atlas-SNP	.											.	DEPDC5	266	.	0			c.C3292T						PASS	.						80	71	73					22																	32257381		692	1591	2283	SO:0001583	missense	9681	exon33			TTTGTCCGCAGCC	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3265C>T	22.37:g.32257381C>T	ENSP00000371546:p.Arg1089Cys	Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	115	38	0.330435	NM_001242896	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671763	0.88348	.	.	ENSG00000100150	ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111	T;T;T;T	0.35973	1.73;1.28;1.77;1.73	5.51	5.51	0.81932	.	0.000000	0.37437	U	0.002098	T	0.44456	0.1294	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.998;0.993	P;B;P;B	0.56700	0.731;0.446;0.804;0.348	T	0.36939	-0.9727	10	0.59425	D	0.04	.	17.9698	0.89110	0.0:1.0:0.0:0.0	.	419;1098;484;1089	B4DSS1;B9EGN9;O75140-7;A8MPX9	.;.;.;.	C	1098;1020;1089;1098	ENSP00000383105:R1098C;ENSP00000371539:R1020C;ENSP00000371546:R1089C;ENSP00000371545:R1098C	ENSP00000371539:R1020C	R	+	1	0	DEPDC5	30587381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.620000	0.61226	2.598000	0.87819	0.650000	0.86243	CGC	.	.	none		0.577	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32257381	C	T	32257381	3	4	40	1	0	0	0	0	1	0	0	0	4442	652	23	1	3409	1	DEPDC5	22	32257381	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		32257381	19047185	156	24313										
AKAP4	8852	hgsc.bcm.edu	37	chrX	49957130	49957130	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gatagttctgtggcattgcaCcactgtgaatgcatctggtg	12	8	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chrX:49957130C>G	ENST00000376056.2	-	5	2357	c.2207G>C	c.(2206-2208)gGt>gCt	p.G736A	AKAP4_ENST00000376058.2_Missense_Mutation_p.G362A|AKAP4_ENST00000358526.2_Missense_Mutation_p.G745A|AKAP4_ENST00000376064.3_Missense_Mutation_p.G736A|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGGCATTGCACCACTGTGAAT	0.483																																					p.G745A		Atlas-SNP	.											.	AKAP4	131	.	0			c.G2234C						PASS	.						103	68	80					X																	49957130		2203	4300	6503	SO:0001583	missense	8852	exon5			ATTGCACCACTGT	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2207G>C	X.37:g.49957130C>G	ENSP00000365224:p.Gly736Ala	Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	133	97	0.729323	NM_003886		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.311971	0.10789	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.3	-5.82	0.02333	A-kinase anchor 110kDa, C-terminal (1);	1.644940	0.03577	N	0.229552	T	0.01800	0.0057	N	0.01874	-0.695	0.09310	N	1	B;B	0.30326	0.001;0.276	B;B	0.32393	0.001;0.145	T	0.41142	-0.9525	9	.	.	.	1.0666	5.0654	0.14580	0.1045:0.144:0.5559:0.1956	.	745;362	Q5JQC9;A6ND82	AKAP4_HUMAN;.	A	736;362;745;736	ENSP00000365224:G736A;ENSP00000365226:G362A;ENSP00000351327:G745A;ENSP00000365232:G736A	.	G	-	2	0	AKAP4	49843870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.084000	0.01363	-1.165000	0.02786	-0.295000	0.09555	GGT	.	.	none		0.483	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		G	49957130	C	G	49957130	3	3	40	1	0	0	0	0	1	0	0	0	453	507	18	4	338	4	AKAP4	23	49957130	Missense_Mutation	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10		49957130	105313430	157	24314										
TEX13A	56157	hgsc.bcm.edu	37	chrX	104464743	104464743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	gtctcctgctgctccctgagCttcttcaggtctgatgccaa	9	14	4	2			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chrX:104464743C>T	ENST00000413579.1	-	2	450	c.339G>A	c.(337-339)aaG>aaA	p.K113K	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.K113K|TEX13A_ENST00000372575.1_Silent_p.K113K|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	113							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCTCCCTGAGCTTCTTCAGGT	0.607																																					p.K113K		Atlas-SNP	.											.	TEX13A	55	.	0			c.G339A						PASS	.						33	34	34					X																	104464743		2169	4253	6422	SO:0001819	synonymous_variant	56157	exon2			CCTGAGCTTCTTC	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.339G>A	X.37:g.104464743C>T		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	60	25	0.416667	NM_031274	B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																				.	.	none		0.607	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		T	104464743	C	T	104464743	2	4	40	1	0	0	0	0	0	0	0	1	15773	796	28	2		2	TEX13A	23	104464743	Silent	SNP	C	TCGA-RQ-AAAT-01A-11D-A38X-10	54507613	104464743	50805817	158	24315										
UBE2A	7319	hgsc.bcm.edu	37	chrX	118717088	118717088	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0576923076923077	9	1	0.815177478580171	1.35862913096695	0.679314565483476	0.369849964277209	0.631827022306899	0	attttaaaaattgtctctttAgtctctgttggatgaaccca	6	7	2	1			TCGA-RQ-AAAT-01A-11D-A38X-10	TCGA-RQ-AAAT-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e19f833b-db2a-411f-99fd-bd14d8527305	1a234e98-37da-4bcb-a68f-c1c5136ddf26	g.chrX:118717088A>C	ENST00000371558.2	+	6	504		c.e6-1		UBE2A_ENST00000371569.5_Splice_Site|UBE2A_ENST00000346330.3_Splice_Site	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TTGTCTCTTTAGTCTCTGTTG	0.388								Rad6 pathway																													.		Atlas-SNP	.											.	UBE2A	43	.	0			c.241-2A>C						PASS	.						99	89	93					X																	118717088		2203	4300	6503	SO:0001630	splice_region_variant	7319	exon5			CTCTTTAGTCTCT	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.331-1A>C	X.37:g.118717088A>C		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	42	34	0.809524	NM_181762	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Splice_Site	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362521	0.41902	.	.	ENSG00000077721	ENST00000371558;ENST00000346330;ENST00000371569	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3672	0.66815	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2A	118601116	1.000000	0.71417	0.966000	0.40874	0.444000	0.32077	9.329000	0.96413	1.992000	0.58205	0.412000	0.27726	.	.	.	none		0.388	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	Intron	C	118717088	A	C	118717088	5	2	40	1	0	0	0	0	0	0	1	0	16841	434	15	5	351	5	UBE2A	23	118717088	Splice_Site	SNP	A	TCGA-RQ-AAAT-01A-11D-A38X-10	14252345	118717088	36553472	159	24316										
CDK11A	728642	hgsc.bcm.edu	37	chr1	1647901	1647901	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgttcgtgctctctttctttCactctagcatgcttccctaa	5	14	4	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:1647901C>T	ENST00000378633.1	-	5	421	c.342G>A	c.(340-342)gtG>gtA	p.V114V	CDK11A_ENST00000378635.3_Silent_p.V114V|CDK11A_ENST00000404249.3_Silent_p.V124V|CDK11A_ENST00000378638.2_Silent_p.V90V|CDK11A_ENST00000356200.3_Silent_p.V90V|CDK11A_ENST00000358779.5_Silent_p.V114V|CDK11A_ENST00000357760.2_Silent_p.V114V|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	114	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTCTTTCTTTCACTCTAGCAT	0.483																																					p.V124V	Pancreas(186;965 2119 30274 40311 50569)	Atlas-SNP	.											.	CDK11B	37	.	0			c.G372A						PASS	.						124	116	118					1																	1647901		1896	4118	6014	SO:0001819	synonymous_variant	984	exon5			TTCTTTCACTCTA	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.342G>A	1.37:g.1647901C>T		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	238	14	0.0588235	NM_033486	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																				.	.	none		0.483	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		T	1647901	C	T	1647901	2	4	41	1	0	0	0	0	0	0	0	1	3126	813	29	2		2	CDK11A	1	1647901	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		1647901	247602720	1	24317										
NOL9	79707	hgsc.bcm.edu	37	chr1	6614339	6614339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tcgcggtgttgggtctccggGccgccgccgcgcgcgacacc	16	17	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:6614339G>C	ENST00000377705.5	-	1	256	c.224C>G	c.(223-225)gCc>gGc	p.A75G	TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	75					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCTCCGGGCCGCCGCCGC	0.736																																					p.A75G		Atlas-SNP	.											.	NOL9	49	.	0			c.C224G						PASS	.						7	5	5					1																	6614339		1475	3019	4494	SO:0001583	missense	79707	exon1			CTCCGGGCCGCCG	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.224C>G	1.37:g.6614339G>C	ENSP00000366934:p.Ala75Gly	Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	131	37	0.282443	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509501	0.27036	.	.	ENSG00000162408	ENST00000377705	T	0.18502	2.21	3.31	1.37	0.22104	.	7.427200	0.00166	N	0.000002	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.20273	-1.0280	10	0.23891	T	0.37	1.8366	3.9684	0.09443	0.1269:0.0:0.6398:0.2332	.	75	Q5SY16	NOL9_HUMAN	G	75	ENSP00000366934:A75G	ENSP00000366934:A75G	A	-	2	0	NOL9	6536926	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.197000	0.09518	0.388000	0.25054	0.407000	0.27541	GCC	.	.	none		0.736	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		C	6614339	G	C	6614339	3	2	41	1	0	0	0	0	1	0	0	0	10528	1203	42	4	1932	4	NOL9	1	6614339	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4966438	6614339	242636282	2	24318										
VPS13D	55187	hgsc.bcm.edu	37	chr1	12398337	12398337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agtacagccagtctgactaaCctagagcaccagatctatgc	8	12	2	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:12398337C>T	ENST00000358136.3	+	40	8731	c.8601C>T	c.(8599-8601)aaC>aaT	p.N2867N	VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTCTGACTAACCTAGAGCACC	0.408																																					p.N2867N		Atlas-SNP	.											.	VPS13D	316	.	0			c.C8601T						PASS	.						178	171	174					1																	12398337		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon40			GACTAACCTAGAG	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8601C>T	1.37:g.12398337C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	74	22	0.297297	NM_015378		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100178	0.20552	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.99	5.08	0.68730	.	.	.	.	.	T	0.71091	0.3299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70550	-0.4841	4	.	.	.	.	15.2099	0.73214	0.0:0.933:0.0:0.067	.	.	.	.	I	1690	.	.	T	+	2	0	VPS13D	12320924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.973000	0.49264	1.549000	0.49425	-0.136000	0.14681	ACC	.	.	none		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12398337	C	T	12398337	2	4	41	1	0	0	0	0	0	0	0	1	17189	506	18	2		2	VPS13D	1	12398337	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	5783998	12398337	236852284	3	24319										
PRAMEF1	65121	hgsc.bcm.edu	37	chr1	12854479	12854479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgaaggagatgaagaatcttCgcaaactcgttttctccagg	10	8	2	4	rs1063775	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:12854479C>G	ENST00000332296.7	+	3	806	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	235					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAATCTTCGCAAACTCGT	0.438													c|||	502	0.10024	0.115	0.0519	5008	,	,		29731	0.0685		0.0785	False		,,,				2504	0.1697				p.R235G		Atlas-SNP	.											PRAMEF1,NS,carcinoma,-1,2	PRAMEF1	78	2	0			c.C703G						scavenged	.						158	163	161					1																	12854479		2203	4300	6503	SO:0001583	missense	65121	exon3			AATCTTCGCAAAC	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.703C>G	1.37:g.12854479C>G	ENSP00000332134:p.Arg235Gly	Somatic	211	11	0.0521327		WXS	Illumina HiSeq	Phase_I	240	22	0.0916667	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	6.921	0.539576	0.13250	.	.	ENSG00000116721	ENST00000332296	T	0.21543	2.0	1.61	1.61	0.23674	.	2.269980	0.01911	N	0.039880	T	0.27594	0.0678	M	0.74467	2.265	0.09310	N	0.999992	B	0.09022	0.002	B	0.06405	0.002	T	0.26916	-1.0089	10	0.39692	T	0.17	.	6.6557	0.22986	0.0:1.0:0.0:0.0	.	235	O95521	PRAM1_HUMAN	G	235	ENSP00000332134:R235G	ENSP00000332134:R235G	R	+	1	0	PRAMEF1	12777066	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.124000	0.10595	1.196000	0.43129	0.436000	0.28706	CGC	C|0.811;G|0.187;T|0.002	0.187	strong		0.438	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		G	12854479	C	G	12854479	3	3	41	1	0	0	0	0	1	0	0	0	12425	884	31	4	709	4	PRAMEF1	1	12854479	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	456142	12854479	236396142	4	24320										
SPEN	23013	hgsc.bcm.edu	37	chr1	16256987	16256987	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gagaagacaagctacgtgagCgagatgaaagactctctagt	12	7	1	6			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:16256987C>T	ENST00000375759.3	+	11	4456	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1418					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTACGTGAGCGAGATGAAAG	0.398																																					p.R1418X		Atlas-SNP	.											.	SPEN	374	.	0			c.C4252T						PASS	.						88	88	88					1																	16256987		2203	4300	6503	SO:0001587	stop_gained	23013	exon11			CGTGAGCGAGATG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4252C>T	1.37:g.16256987C>T	ENSP00000364912:p.Arg1418*	Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	74	15	0.202703	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	42	9.732756	0.99251	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.42	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-8.429	11.7282	0.51722	0.1906:0.8094:0.0:0.0	.	.	.	.	X	1418	.	ENSP00000364912:R1418X	R	+	1	2	SPEN	16129574	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.391000	0.34475	1.427000	0.47276	0.563000	0.77884	CGA	.	.	none		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16256987	C	T	16256987	4	4	41	1	0	0	0	0	0	1	0	0	15037	760	27	1	4294	1	SPEN	1	16256987	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3402508	16256987	232993634	5	24321										
C1orf64	149563	hgsc.bcm.edu	37	chr1	16332643	16332643	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgggtgggggatgccttgcCcaggccagggccaccctgcc	16	14	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:16332643C>G	ENST00000329454.2	+	2	380	c.312C>G	c.(310-312)gcC>gcG	p.A104A	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	104										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCTTGCCCAGGCCAGGG	0.647																																					p.A104A		Atlas-SNP	.											.	C1orf64	16	.	0			c.C312G						PASS	.						50	51	51					1																	16332643		2203	4300	6503	SO:0001819	synonymous_variant	149563	exon2			CCTTGCCCAGGCC	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"ER-related factor"					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.312C>G	1.37:g.16332643C>G		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	94	16	0.170213	NM_178840	B3KXI9	Silent	SNP	ENST00000329454.2	37	CCDS166.1																																																																																			.	.	none		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		G	16332643	C	G	16332643	2	3	41	1	0	0	0	0	0	0	0	1	2054	610	22	4		4	C1orf64	1	16332643	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	75656	16332643	232917978	6	24322										
PAX7	5081	hgsc.bcm.edu	37	chr1	18962816	18962816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcggacaagaaggaggacgaCggcgaaaagaaggccaaaca	15	8	0	2	rs372598486		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:18962816C>T	ENST00000375375.3	+	4	1135	c.537C>T	c.(535-537)gaC>gaT	p.D179D	PAX7_ENST00000420770.2_Silent_p.D179D|PAX7_ENST00000400661.3_Silent_p.D177D	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	179	Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		aggaggacgacggcgaaaaga	0.557			T	FOXO1A	alveolar rhabdomyosarcoma																																p.D179D		Atlas-SNP	.		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	PAX7	127	.	0			c.C537T						PASS	.						232	198	209					1																	18962816		2203	4300	6503	SO:0001819	synonymous_variant	5081	exon4			GGACGACGGCGAA	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.537C>T	1.37:g.18962816C>T		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	90	21	0.233333	NM_002584	E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	CCDS186.1																																																																																			.	.	none		0.557	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		T	18962816	C	T	18962816	2	4	41	1	0	0	0	0	0	0	0	1	11484	535	19	1		1	PAX7	1	18962816	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	2630173	18962816	230287805	7	24323										
WDTC1	23038	hgsc.bcm.edu	37	chr1	27608772	27608772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtctggagtggaatgagaaaGgagagtaagtatgagctaga	16	2	1	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:27608772G>A	ENST00000319394.3	+	4	710	c.175G>A	c.(175-177)Gga>Aga	p.G59R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G59R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	59					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GAATGAGAAAGGAGAGTAAGT	0.517																																					p.G59R		Atlas-SNP	.											.	WDTC1	69	.	0			c.G175A						PASS	.						103	91	95					1																	27608772		2203	4300	6503	SO:0001583	missense	23038	exon4			GAGAAAGGAGAGT	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.175G>A	1.37:g.27608772G>A	ENSP00000317971:p.Gly59Arg	Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	44	17	0.386364	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.949156	0.92660	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.65549	-0.16;-0.16	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85399	0.1130	10	0.87932	D	0	.	17.1641	0.86810	0.0:0.0:1.0:0.0	.	59;59	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	R	59	ENSP00000317971:G59R;ENSP00000355317:G59R	ENSP00000317971:G59R	G	+	1	0	WDTC1	27481359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.976000	0.93442	2.612000	0.88384	0.655000	0.94253	GGA	.	.	none		0.517	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		A	27608772	G	A	27608772	3	1	41	1	0	0	0	0	1	0	0	0	17339	1001	35	2	185	2	WDTC1	1	27608772	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	8645956	27608772	221641849	8	24324										
SMPDL3B	27293	hgsc.bcm.edu	37	chr1	28282207	28282207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccttgtaggtgtacattgtcGgccacgtgcccccggggttc	13	13	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:28282207G>A	ENST00000373894.3	+	6	894	c.703G>A	c.(703-705)Ggc>Agc	p.G235S	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.G235S|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G187S	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	235					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTACATTGTCGGCCACGTGCC	0.527																																					p.G235S		Atlas-SNP	.											.	SMPDL3B	54	.	0			c.G703A						PASS	.						75	77	76					1																	28282207		2203	4300	6503	SO:0001583	missense	27293	exon6			ATTGTCGGCCACG	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.703G>A	1.37:g.28282207G>A	ENSP00000363001:p.Gly235Ser	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	68	16	0.235294	NM_001009568	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901958	0.72754	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.22	5.22	0.72569	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.73430	2.235	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.97750	1.0214	10	0.40728	T	0.16	-37.9539	18.7635	0.91862	0.0:0.0:1.0:0.0	.	187;235;235	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	S	235;265;265;235;187;187	ENSP00000363001:G235S;ENSP00000388092:G265S;ENSP00000362995:G235S;ENSP00000449450:G187S	ENSP00000362995:G235S	G	+	1	0	SMPDL3B	28154794	1.000000	0.71417	0.977000	0.42913	0.008000	0.06430	9.756000	0.98918	2.417000	0.82017	0.462000	0.41574	GGC	.	.	none		0.527	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		A	28282207	G	A	28282207	3	1	41	1	0	0	0	0	1	0	0	0	14809	1116	39	1	725	1	SMPDL3B	1	28282207	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	673435	28282207	220968414	9	24325										
MACF1	23499	hgsc.bcm.edu	37	chr1	39908411	39908411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aaaaaatgatgttttggctcAtcaagccacagtggaaacag	9	7	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:39908411A>G	ENST00000372915.3	+	77	18914	c.18827A>G	c.(18826-18828)cAt>cGt	p.H6276R	MACF1_ENST00000289893.4_Missense_Mutation_p.H4820R|MACF1_ENST00000564288.1_Missense_Mutation_p.H6377R|MACF1_ENST00000361689.2_Missense_Mutation_p.H4318R|MACF1_ENST00000545844.1_Missense_Mutation_p.H4318R|MACF1_ENST00000539005.1_Missense_Mutation_p.H4188R|MACF1_ENST00000317713.7_Missense_Mutation_p.H4318R|MACF1_ENST00000567887.1_Missense_Mutation_p.H6414R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6276					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTTTGGCTCATCAAGCCACA	0.398																																					p.H4318R		Atlas-SNP	.											.	MACF1	909	.	0			c.A12953G						PASS	.						51	49	50					1																	39908411		2203	4300	6503	SO:0001583	missense	23499	exon75			TGGCTCATCAAGC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18827A>G	1.37:g.39908411A>G	ENSP00000362006:p.His6276Arg	Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	113	30	0.265487	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	23.5	4.423174	0.83559	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.50813	1.3;0.73;1.3;1.3;1.3;0.73	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.61689	0.2367	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.64145	-0.6476	10	0.72032	D	0.01	.	16.1839	0.81934	1.0:0.0:0.0:0.0	.	6276;4318	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	R	4318;6276;4318;4318;4188;4820	ENSP00000439537:H4318R;ENSP00000362006:H6276R;ENSP00000354573:H4318R;ENSP00000313438:H4318R;ENSP00000444364:H4188R;ENSP00000289893:H4820R	ENSP00000289893:H4820R	H	+	2	0	MACF1	39680998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	CAT	.	.	none		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39908411	A	G	39908411	3	3	41	1	0	0	0	0	1	0	0	0	9144	217	8	2	19398	2	MACF1	1	39908411	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	11626204	39908411	209342210	10	24326										
ST6GALNAC5	81849	hgsc.bcm.edu	37	chr1	77334232	77334232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	accaccatgtgcaccagcttGttgctagtgtacagcagcct	9	13	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:77334232G>A	ENST00000477717.1	+	2	301	c.66G>A	c.(64-66)ttG>ttA	p.L22L	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	22					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCACCAGCTTGTTGCTAGTGT	0.672																																					p.L22L		Atlas-SNP	.											.	ST6GALNAC5	59	.	0			c.G66A						PASS	.						34	32	32					1																	77334232		2203	4299	6502	SO:0001819	synonymous_variant	81849	exon2			CAGCTTGTTGCTA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.66G>A	1.37:g.77334232G>A		Somatic	203	0	0		WXS	Illumina HiSeq	Phase_I	210	50	0.238095	NM_030965	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																			.	.	none		0.672	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		A	77334232	G	A	77334232	2	1	41	1	0	0	0	0	0	0	0	1	15226	1368	48	2		2	ST6GALNAC5	1	77334232	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	37425821	77334232	171916389	11	24327										
LPHN2	23266	hgsc.bcm.edu	37	chr1	82409302	82409302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atttataatacccgattaaaCcgaggagaatatgtagatgt	8	5	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:82409302C>A	ENST00000370728.1	+	8	1692	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	LPHN2_ENST00000359929.3_Missense_Mutation_p.N349K|LPHN2_ENST00000335786.5_Missense_Mutation_p.N349K|LPHN2_ENST00000370715.1_Missense_Mutation_p.N349K|LPHN2_ENST00000394879.1_Missense_Mutation_p.N349K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.N353K|LPHN2_ENST00000370723.1_Missense_Mutation_p.N349K|LPHN2_ENST00000370725.1_Missense_Mutation_p.N349K|LPHN2_ENST00000271029.4_Missense_Mutation_p.N349K|LPHN2_ENST00000370713.1_Missense_Mutation_p.N349K|LPHN2_ENST00000370730.1_Missense_Mutation_p.N349K|LPHN2_ENST00000370717.2_Missense_Mutation_p.N349K|LPHN2_ENST00000370727.1_Missense_Mutation_p.N349K|LPHN2_ENST00000319517.6_Missense_Mutation_p.N349K			O95490	LPHN2_HUMAN	latrophilin 2	349	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCCGATTAAACCGAGGAGAAT	0.383																																					p.N349K		Atlas-SNP	.											.	LPHN2	464	.	0			c.C1047A						PASS	.						155	154	154					1																	82409302		2203	4299	6502	SO:0001583	missense	23266	exon5			ATTAAACCGAGGA	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1047C>A	1.37:g.82409302C>A	ENSP00000359763:p.Asn349Lys	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	120	33	0.275	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.791|9.791	1.177918|1.177918	0.21787|0.21787	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41|.	5.54|5.54	4.62|4.62	0.57501|0.57501	.|.	0.160030|.	0.53938|.	D|.	0.000042|.	T|T	0.45337|0.45337	0.1337|0.1337	L|L	0.56396|0.56396	1.775|1.775	0.36629|0.36629	D|D	0.876203|0.876203	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.08055|.	0.003;0.002;0.001|.	T|T	0.50276|0.50276	-0.8847|-0.8847	10|5	0.62326|.	D|.	0.03|.	.|.	6.8169|6.8169	0.23835|0.23835	0.1426:0.7106:0.0:0.1468|0.1426:0.7106:0.0:0.1468	.|.	349;349;349|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	K|N	353;349;349;349;349;349;349;349;349;349;349;349;349;349|217	ENSP00000359756:N353K;ENSP00000359763:N349K;ENSP00000359765:N349K;ENSP00000359762:N349K;ENSP00000359760:N349K;ENSP00000359758:N349K;ENSP00000353006:N349K;ENSP00000359750:N349K;ENSP00000359748:N349K;ENSP00000322270:N349K;ENSP00000359752:N349K;ENSP00000378344:N349K;ENSP00000271029:N349K;ENSP00000337306:N349K|.	ENSP00000271029:N349K|.	N|T	+|+	3|2	2|0	LPHN2|LPHN2	82181890|82181890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	1.052000|1.052000	0.30429|0.30429	1.302000|1.302000	0.44855|0.44855	0.557000|0.557000	0.71058|0.71058	AAC|ACC	.	.	none		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		A	82409302	C	A	82409302	3	1	41	1	0	0	0	0	1	0	0	0	8916	506	18	4	1061	4	LPHN2	1	82409302	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	5075070	82409302	166841319	12	24328										
FAM72B	653820	hgsc.bcm.edu	37	chr1	120846059	120846059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtcttccttcctgcaacaacGgacacttctggatgtttcac	7	13	3	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:120846059G>A	ENST00000369390.3	+	3	1124	c.295G>A	c.(295-297)Gga>Aga	p.G99R	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.G59R	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	99										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCAACAACGGACACTTCTG	0.388																																					p.G99R		Atlas-SNP	.											FAM72B,NS,carcinoma,0,1	FAM72B	10	1	0			c.G295A						scavenged	.						345	316	325					1																	120846059		1870	4114	5984	SO:0001583	missense	653820	exon3			AACAACGGACACT	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.295G>A	1.37:g.120846059G>A	ENSP00000358397:p.Gly99Arg	Somatic	577	4	0.00693241		WXS	Illumina HiSeq	Phase_I	608	7	0.0115132	NM_001100910	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	g	18.03	3.532588	0.64972	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.38401	1.14;1.14;1.14	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.36166	0.0957	M	0.83603	2.65	0.54753	D	0.999989	D;B	0.63880	0.993;0.295	P;B	0.49361	0.608;0.056	T	0.42548	-0.9445	10	0.54805	T	0.06	.	10.8119	0.46551	0.0:0.0:1.0:0.0	.	99;59	Q86X60;Q86X60-2	FA72B_HUMAN;.	R	70;99;70;59	ENSP00000358397:G99R;ENSP00000392882:G70R;ENSP00000347368:G59R	ENSP00000347368:G59R	G	+	1	0	FAM72B	120647582	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.236000	0.78154	1.431000	0.47355	0.398000	0.26397	GGA	.	.	weak		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			A	120846059	G	A	120846059	3	1	41	1	0	0	0	0	1	0	0	0	5615	1117	39	1	305	1	FAM72B	1	120846059	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	38436757	120846059	128404562	13	24329										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	7	11	3	1	rs55936365		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V		Atlas-SNP	.											NBPF10,NS,carcinoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	kidney(2)	c.C130G						scavenged	.																																			SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val	Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	86	7	0.0813954	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT	.	.	weak		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145293535	C	G	145293535	3	3	41	1	0	0	0	0	1	0	0	0	10193	912	32	4	132	4	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	24447476	145293535	103957086	14	24330										
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299805	145299805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tttgtccagcgagaaggcagAgatgaacattctagaaatca	10	7	2	4	rs61814629	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491				p.E285A		Atlas-SNP	.											NBPF10_ENST00000369338,extremity,malignant_melanoma,0,2	NBPF10	221	2	2	Substitution - Missense(2)	skin(2)	c.A854C						scavenged	.						9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406	exon6			AGGCAGAGATGAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala	Somatic	108	5	0.0462963		WXS	Illumina HiSeq	Phase_I	120	9	0.075	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG	A|0.999;G|0.001	.	weak		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	41	1	0	0	0	0	1	0	0	0	10193	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	6270	145299805	103950816	15	24331										
HIST2H2BE	8349	hgsc.bcm.edu	37	chr1	149858047	149858047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgccggtgtcggggtggacCtgcttcagcaccttgtacac	13	12	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:149858047C>T	ENST00000369155.2	-	1	185	c.144G>A	c.(142-144)caG>caA	p.Q48Q	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	48					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGGGTGGACCTGCTTCAGCA	0.587																																					p.Q48Q		Atlas-SNP	.											.	HIST2H2BE	33	.	0			c.G144A						PASS	.						200	187	191					1																	149858047		2203	4300	6503	SO:0001819	synonymous_variant	8349	exon1			GTGGACCTGCTTC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.144G>A	1.37:g.149858047C>T		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	159	35	0.220126	NM_003528	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	ENST00000369155.2	37	CCDS936.1																																																																																			.	.	none		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		T	149858047	C	T	149858047	2	4	41	1	0	0	0	0	0	0	0	1	7179	680	24	2		2	HIST2H2BE	1	149858047	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4558242	149858047	99392574	16	24332										
MCL1	4170	hgsc.bcm.edu	37	chr1	150551347	150551347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gccgtctcgtggttgcgctgCacgccatccccaacccgtcg	11	18	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:150551347C>T	ENST00000369026.2	-	1	719	c.660G>A	c.(658-660)gtG>gtA	p.V220V	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.V220V	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	220					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGTTGCGCTGCACGCCATCCC	0.632																																					p.V220V		Atlas-SNP	.											MCL1,NS,carcinoma,0,1	MCL1	27	1	0			c.G660A						PASS	.						59	65	63					1																	150551347		2203	4300	6503	SO:0001819	synonymous_variant	4170	exon1			GCGCTGCACGCCA	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.660G>A	1.37:g.150551347C>T		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	63	15	0.238095	NM_182763	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	CCDS957.1																																																																																			.	.	none		0.632	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		T	150551347	C	T	150551347	2	4	41	1	0	0	0	0	0	0	0	1	9384	697	25	2		2	MCL1	1	150551347	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	693300	150551347	98699274	17	24333										
RPTN	126638	hgsc.bcm.edu	37	chr1	152128876	152128876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	taatgagaatcctgaattggTttttcacaccgatttaaggc	8	7	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:152128876T>G	ENST00000316073.3	-	3	763	c.699A>C	c.(697-699)aaA>aaC	p.K233N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	233	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTGAATTGGTTTTTCACACC	0.403																																					p.K233N		Atlas-SNP	.											RPTN,colon,carcinoma,0,1	RPTN	123	1	0			c.A699C						scavenged	.						253	212	224					1																	152128876		1568	3582	5150	SO:0001583	missense	126638	exon3			AATTGGTTTTTCA	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.699A>C	1.37:g.152128876T>G	ENSP00000317895:p.Lys233Asn	Somatic	259	1	0.003861		WXS	Illumina HiSeq	Phase_I	280	51	0.182143	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095250	0.20471	.	.	ENSG00000215853	ENST00000316073	T	0.13538	2.58	4.17	-1.53	0.08611	.	.	.	.	.	T	0.01976	0.0062	L	0.39020	1.185	0.09310	N	1	B	0.22146	0.065	B	0.14023	0.01	T	0.47142	-0.9140	9	0.18710	T	0.47	-3.9643	0.1266	0.00069	0.3014:0.1795:0.1654:0.3537	.	233	Q6XPR3	RPTN_HUMAN	N	233	ENSP00000317895:K233N	ENSP00000317895:K233N	K	-	3	2	RPTN	150395500	0.013000	0.17824	0.017000	0.16124	0.577000	0.36160	0.088000	0.14979	-0.152000	0.11156	0.363000	0.22086	AAA	.	.	none		0.403	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		G	152128876	T	G	152128876	3	3	41	1	0	0	0	0	1	0	0	0	13664	1722	60	5	1659	5	RPTN	1	152128876	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	1577529	152128876	97121745	18	24334										
LCE1A	353131	hgsc.bcm.edu	37	chr1	152800123	152800123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtggctccagctctgggggcGgctgcagctctgggggaggt	20	10	2	0	rs141081392	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:152800123G>A	ENST00000335123.2	+	1	175	c.175G>A	c.(175-177)Ggc>Agc	p.G59S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	59	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTGGGGGCGGCTGCAGCTC	0.667																																					p.G59S		Atlas-SNP	.											.	LCE1A	23	.	0			c.G175A						PASS	.	T	SER/GLY	0,4406		0,0,2203	35	41	39		175	-3.2	0.7	1	dbSNP_134	39	2,8598		0,2,4298	no	missense	LCE1A	NM_178348.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	59/111	152800123	2,13004	2203	4300	6503	SO:0001583	missense	353131	exon1			GGGGGCGGCTGCA		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.175G>A	1.37:g.152800123G>A	ENSP00000334869:p.Gly59Ser	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	162	34	0.209877	NM_178348		Missense_Mutation	SNP	ENST00000335123.2	37	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864213	0.32977	0.0	2.33E-4	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.02944	4.1;4.1	1.63	-3.25	0.05079	.	0.000000	0.38663	N	0.001619	T	0.00468	0.0015	N	0.14661	0.345	0.09310	N	1	P	0.35780	0.52	B	0.20767	0.031	T	0.49643	-0.8918	10	0.87932	D	0	.	7.2939	0.26383	0.0:0.0:0.4666:0.5334	.	59	Q5T7P2	LCE1A_HUMAN	S	59	ENSP00000357755:G59S;ENSP00000334869:G59S	ENSP00000334869:G59S	G	+	1	0	LCE1A	151066747	0.001000	0.12720	0.686000	0.30086	0.613000	0.37349	-0.661000	0.05311	-0.857000	0.04115	-1.275000	0.01399	GGC	A|0.000;G|0.999;T|0.000	0.000	strong		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		A	152800123	G	A	152800123	3	1	41	1	0	0	0	0	1	0	0	0	8659	1116	39	1	177	1	LCE1A	1	152800123	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	671247	152800123	96450498	19	24335										
FDPS	2224	hgsc.bcm.edu	37	chr1	155288031	155288031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atctaccgcctgctgaagctCtattgccgggagcagcccta	10	14	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:155288031C>T	ENST00000356657.6	+	6	795	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000447866.1_Silent_p.L145L|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Silent_p.L211L|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	211					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGCTGAAGCTCTATTGCCGGG	0.542																																					p.L211L		Atlas-SNP	.											FDPS,right_lower_lobe,carcinoma,0,1	FDPS	41	1	0			c.C633T						PASS	.						77	73	74					1																	155288031		2203	4300	6503	SO:0001819	synonymous_variant	2224	exon6			GAAGCTCTATTGC	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.633C>T	1.37:g.155288031C>T		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	73	20	0.273973	NM_001135821	D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	CCDS1110.1																																																																																			.	.	none		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		T	155288031	C	T	155288031	2	4	41	1	0	0	0	0	0	0	0	1	5803	900	32	2		2	FDPS	1	155288031	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	2487908	155288031	93962590	20	24336										
UAP1	6675	hgsc.bcm.edu	37	chr1	162549371	162549371	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aaaattattttggaagagaaGaacaaagtttctatggctcc	8	5	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:162549371G>A	ENST00000367925.1	+	3	671	c.639G>A	c.(637-639)aaG>aaA	p.K213K	UAP1_ENST00000271469.3_Silent_p.K213K|UAP1_ENST00000367926.4_Silent_p.K213K|UAP1_ENST00000367924.1_Silent_p.K213K			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	213					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGAAGAGAAGAACAAAGTTT	0.323																																					p.K213K		Atlas-SNP	.											.	UAP1	47	.	0			c.G639A						PASS	.						67	71	70					1																	162549371		2200	4300	6500	SO:0001819	synonymous_variant	6675	exon4			AGAGAAGAACAAA	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.639G>A	1.37:g.162549371G>A		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	38	10	0.263158	NM_003115	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37																																																																																				.	.	none		0.323	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		A	162549371	G	A	162549371	2	1	41	1	0	0	0	0	0	0	0	1	16822	933	33	2		2	UAP1	1	162549371	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	7261340	162549371	86701250	21	24337										
DUSP27	92235	hgsc.bcm.edu	37	chr1	167096795	167096795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	accacactgagctcacccgcGgaaagttgcagaagcaaagt	10	12	1	2	rs142434634	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:167096795G>A	ENST00000361200.2	+	6	2593	c.2427G>A	c.(2425-2427)gcG>gcA	p.A809A	DUSP27_ENST00000443333.1_Silent_p.A809A|DUSP27_ENST00000271385.5_Silent_p.A809A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	809					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTCACCCGCGGAAAGTTGCA	0.572													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22206	0.0		0.0	False		,,,				2504	0.0				p.A809A		Atlas-SNP	.											DUSP27,right_upper_lobe,carcinoma,0,1	DUSP27	235	1	0			c.G2427A						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	83	76	78		2427	-10.1	0	1	dbSNP_134	78	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	DUSP27	NM_001080426.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		809/1159	167096795	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	92235	exon5			ACCCGCGGAAAGT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2427G>A	1.37:g.167096795G>A		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	81	15	0.185185	NM_001080426	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																			G|0.999;A|0.001	0.001	strong		0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167096795	G	A	167096795	2	1	41	1	0	0	0	0	0	0	0	1	4824	1103	39	1		1	DUSP27	1	167096795	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4547424	167096795	82153826	22	24338										
C1orf114	57821	hgsc.bcm.edu	37	chr1	169391492	169391492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaatgccgtttggtgtgctcCattactgtctcattctcttt	8	10	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:169391492C>T	ENST00000367806.3	-	3	329	c.177G>A	c.(175-177)atG>atA	p.M59I	CCDC181_ENST00000367805.3_Missense_Mutation_p.M59I|CCDC181_ENST00000545005.1_Missense_Mutation_p.M59I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	59						nucleus (GO:0005634)											TGGTGTGCTCCATTACTGTCT	0.373																																					p.M59I		Atlas-SNP	.											.	C1orf114	67	.	0			c.G177A						PASS	.						107	98	101					1																	169391492		2202	4300	6502	SO:0001583	missense	57821	exon3			GTGCTCCATTACT	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.177G>A	1.37:g.169391492C>T	ENSP00000356780:p.Met59Ile	Somatic	357	0	0		WXS	Illumina HiSeq	Phase_I	441	87	0.197279	NM_021179	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384829	0.04966	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21031	2.04;2.04;2.04;2.03	5.27	-1.78	0.07957	.	1.412370	0.04011	N	0.298187	T	0.02267	0.0070	N	0.02011	-0.69	0.09310	N	0.999991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38394	-0.9663	9	0.36615	T	0.2	0.0962	6.7625	0.23548	0.0:0.1371:0.3585:0.5044	.	59;59;59	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	59	ENSP00000356779:M59I;ENSP00000356780:M59I;ENSP00000442297:M59I;ENSP00000411000:M59I	ENSP00000356779:M59I	M	-	3	0	C1orf114	167658116	0.731000	0.28111	0.094000	0.20943	0.052000	0.14988	0.854000	0.27791	-0.002000	0.14469	-0.414000	0.06135	ATG	.	.	none		0.373	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		T	169391492	C	T	169391492	3	4	41	1	0	0	0	0	1	0	0	0	1987	594	21	2	1365	2	C1orf114	1	169391492	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	2294697	169391492	79859129	23	24339										
FMO2	2327	hgsc.bcm.edu	37	chr1	171174750	171174750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aactgctgaacttcaagctcGttgggtgacaagagttttca	10	8	2	3	rs72549336|rs187393653		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:171174750G>A	ENST00000209929.7	+	7	1318	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	FMO2_ENST00000441535.1_Missense_Mutation_p.R387H|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	386					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCAAGCTCGTTGGGTGACA	0.468																																					p.R387H		Atlas-SNP	.											FMO2,NS,carcinoma,0,2	FMO2	66	2	0			c.G1160A						PASS	.						43	42	42					1																	171174750		2203	4299	6502	SO:0001583	missense	2327	exon7			AAGCTCGTTGGGT	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1160G>A	1.37:g.171174750G>A	ENSP00000209929:p.Arg387His	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	57	11	0.192982	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460870	0.96240	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.63580	-0.05;-0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	H	0.94385	3.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.85749	0.1342	10	0.72032	D	0.01	-17.9497	18.6468	0.91413	0.0:0.0:1.0:0.0	.	387	Q99518	FMO2_HUMAN	H	387	ENSP00000209929:R387H;ENSP00000405905:R387H	ENSP00000209929:R387H	R	+	2	0	FMO2	169441374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.732000	0.74790	2.768000	0.95171	0.655000	0.94253	CGT	G|1.000;T|0.000	.	alt		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		A	171174750	G	A	171174750	3	1	41	1	0	0	0	0	1	0	0	0	5955	1145	40	1	1182	1	FMO2	1	171174750	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	1783258	171174750	78075871	24	24340										
GPR52	9293	hgsc.bcm.edu	37	chr1	174418186	174418209	+	In_Frame_Del	DEL	AACTGTGTAATATACAGCCTCTCC	AACTGTGTAATATACAGCCTCTCC	-													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	caataagtaatagtttttgtAactgtgtaatatacagcctc					rs75331361|rs560667623		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	AACTGTGTAATATACAGCCTCTCC	AACTGTGTAATATACAGCCTCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:174418186_174418209delAACTGTGTAATATACAGCCTCTCC	ENST00000367685.2	+	1	975_998	c.937_960delAACTGTGTAATATACAGCCTCTCC	c.(937-960)aactgtgtaatatacagcctctccdel	p.NCVIYSLS313del	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	313					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TAGTTTTTGTAACTGTGTAATATACAGCCTCTCCAACAGCGTTT	0.442																																					p.312_320del	Ovarian(92;924 1390 1930 16467 40583)	Atlas-Indel	.											.	GPR52	40	.	0			c.936_959del						PASS	.																																			SO:0001651	inframe_deletion	9293	exon1			.	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.937_960delAACTGTGTAATATACAGCCTCTCC	1.37:g.174418186_174418209delAACTGTGTAATATACAGCCTCTCC	ENSP00000356658:p.Asn313_Ser320del	Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	143	17	0.118881	NM_005684	O75654|Q4VBL6|Q6ISM0	In_Frame_Del	DEL	ENST00000367685.2	37	CCDS30941.1																																																																																			.	.	none		0.442	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		-	174418209	AACTGTGTAATATACAGCCTCTCC	-	174418186	7	5	41	1	0	1	0	1	0	0	0	0	6698	362	13	0	939	0	GPR52	1	174418186	In_Frame_Del	DEL	AACTGTGTAATATACAGCCTCTCC	TCGA-VB-A8QN-01A-11D-A382-10	3243436	174418186	74832435	25	24341										
RGS8	85397	hgsc.bcm.edu	37	chr1	182638779	182638779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgcgtggcatcagtaaggcCgccatacaggcatcagctta	11	12	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:182638779C>T	ENST00000483095.2	-	3	263	c.6G>A	c.(4-6)gcG>gcA	p.A2A	RGS8_ENST00000367557.4_Silent_p.A2A|RGS8_ENST00000258302.4_Intron|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Silent_p.A2A			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	2					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TCAGTAAGGCCGCCATACAGG	0.517																																					p.A2A	Ovarian(189;1262 3804 41973)	Atlas-SNP	.											.	RGS8	51	.	0			c.G6A						PASS	.						134	143	140					1																	182638779		1971	4154	6125	SO:0001819	synonymous_variant	85397	exon3			TAAGGCCGCCATA	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.6G>A	1.37:g.182638779C>T		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	103	22	0.213592	NM_001102450	B4DGL9|Q3SYD2	Silent	SNP	ENST00000483095.2	37	CCDS41443.1																																																																																			.	.	none		0.517	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		T	182638779	C	T	182638779	2	4	41	1	0	0	0	0	0	0	0	1	13312	639	23	1		1	RGS8	1	182638779	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	8220593	182638779	66611842	26	24342										
CFH	3075	hgsc.bcm.edu	37	chr1	196716285	196716285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttatggaaaattataacataGcattaaggtggacagccaaa	8	5	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:196716285G>A	ENST00000367429.4	+	22	3778	c.3538G>A	c.(3538-3540)Gca>Aca	p.A1180T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1180	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATAACATAGCATTAAGGTG	0.343																																					p.A1180T		Atlas-SNP	.											.	CFH	251	.	0			c.G3538A						PASS	.						140	138	138					1																	196716285		2203	4300	6503	SO:0001583	missense	3075	exon22			AACATAGCATTAA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3538G>A	1.37:g.196716285G>A	ENSP00000356399:p.Ala1180Thr	Somatic	409	0	0		WXS	Illumina HiSeq	Phase_I	576	99	0.171875	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	3.487	-0.104608	0.06967	.	.	ENSG00000000971	ENST00000367429	D	0.82984	-1.67	4.48	-8.97	0.00758	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.53834	0.1821	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54016	-0.8356	9	0.13853	T	0.58	.	13.2549	0.60073	0.1389:0.2653:0.5958:0.0	.	1180	P08603	CFAH_HUMAN	T	1180	ENSP00000356399:A1180T	ENSP00000356399:A1180T	A	+	1	0	CFH	194982908	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.592000	0.00421	-2.554000	0.00477	-0.417000	0.06048	GCA	.	.	none		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196716285	G	A	196716285	3	1	41	1	0	0	0	0	1	0	0	0	3283	971	34	2	3642	2	CFH	1	196716285	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	14077506	196716285	52534336	27	24343										
IGFN1	91156	hgsc.bcm.edu	37	chr1	201182456	201182456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgggaggtcaggcaggaggcCtggctcactcaggagcaggt	18	9	3	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:201182456C>T	ENST00000335211.4	+	12	8565	c.8435C>T	c.(8434-8436)cCt>cTt	p.P2812L	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGGAGGCCTGGCTCACTC	0.637																																					p.P2812L		Atlas-SNP	.											.	IGFN1	220	.	0			c.C8435T						PASS	.						45	52	50					1																	201182456		692	1591	2283	SO:0001583	missense	91156	exon12			GGAGGCCTGGCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8435C>T	1.37:g.201182456C>T	ENSP00000334714:p.Pro2812Leu	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	135	25	0.185185	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372301	0.24857	.	.	ENSG00000163395	ENST00000335211	T	0.54071	0.59	3.54	-3.87	0.04218	.	.	.	.	.	T	0.34164	0.0888	N	0.22421	0.69	0.09310	N	0.999999	.	.	.	.	.	.	T	0.32929	-0.9888	7	0.48119	T	0.1	.	4.4927	0.11820	0.0:0.3952:0.2935:0.3113	.	.	.	.	L	2812	ENSP00000334714:P2812L	ENSP00000334714:P2812L	P	+	2	0	IGFN1	199449079	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.317000	0.02707	-0.920000	0.03799	-0.424000	0.05967	CCT	.	.	none		0.637	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201182456	C	T	201182456	3	4	41	1	0	0	0	0	1	0	0	0	7590	681	24	2	8477	2	IGFN1	1	201182456	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4466171	201182456	48068165	28	24344										
ADIPOR1	51094	hgsc.bcm.edu	37	chr1	202915676	202915676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgaccatgtagcagatagtcGttgtcctttagccagtcagg	11	9	1	2	rs377163409		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:202915676G>A	ENST00000340990.5	-	4	619	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ADIPOR1_ENST00000367254.3_Silent_p.N107N|ADIPOR1_ENST00000436244.1_Silent_p.N107N	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	107					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCAGATAGTCGTTGTCCTTTA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21433	0.0		0.0	False		,,,				2504	0.001				p.N107N		Atlas-SNP	.											ADIPOR1,NS,carcinoma,0,1	ADIPOR1	32	1	0			c.C321T						PASS	.						224	170	188					1																	202915676		2203	4300	6503	SO:0001819	synonymous_variant	51094	exon4			ATAGTCGTTGTCC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.321C>T	1.37:g.202915676G>A		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	109	17	0.155963	NM_015999	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	CCDS1430.1																																																																																			.	.	none		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		A	202915676	G	A	202915676	2	1	41	1	0	0	0	0	0	0	0	1	318	1136	40	1		1	ADIPOR1	1	202915676	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	1733220	202915676	46334945	29	24345										
BTG2	7832	hgsc.bcm.edu	37	chr1	203276387	203276387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	accagctgctgcccagcgagCtgaccctgtgggtggacccc	13	16	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:203276387C>T	ENST00000290551.4	+	2	369	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	100					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCCCAGCGAGCTGACCCTGTG	0.642																																					p.L100L		Atlas-SNP	.											.	BTG2	16	.	0			c.C298T						PASS	.						47	49	48					1																	203276387		2203	4300	6503	SO:0001819	synonymous_variant	7832	exon2			AGCGAGCTGACCC		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.298C>T	1.37:g.203276387C>T		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	57	8	0.140351	NM_006763	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.	.	none		0.642	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		T	203276387	C	T	203276387	2	4	41	1	0	0	0	0	0	0	0	1	1554	796	28	2		2	BTG2	1	203276387	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	360711	203276387	45974234	30	24346										
OBSCN	84033	hgsc.bcm.edu	37	chr1	228557697	228557697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaccgtgccaccctcctgaaCgtcctggaggggcgcgtgtc	14	15	0	1	rs200703788	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:228557697C>T	ENST00000422127.1	+	91	20066	c.20022C>T	c.(20020-20022)aaC>aaT	p.N6674N	OBSCN_ENST00000366707.4_Silent_p.N4308N|OBSCN_ENST00000570156.2_Silent_p.N7631N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6674	Protein kinase 1. {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)				CCCTCCTGAACGTCCTGGAGG	0.637																																					p.N7631N		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C22893T						PASS	.						67	69	68					1																	228557697		2005	4157	6162	SO:0001819	synonymous_variant	84033	exon102			CCTGAACGTCCTG	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.20022C>T	1.37:g.228557697C>T		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	73	17	0.232877	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	6.857	0.527360	0.13066	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.72	-7.4	0.01397	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.26941	N	0.966244	.	.	.	.	.	.	T	0.42916	-0.9423	4	.	.	.	.	16.4815	0.84159	0.0:0.2737:0.0:0.7263	.	.	.	.	C	1291	.	.	R	+	1	0	OBSCN	226624320	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	-1.550000	0.02180	-1.617000	0.01570	-0.463000	0.05309	CGT	C|0.996;G|0.004	.	alt		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228557697	C	T	228557697	2	4	41	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228557697	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	25281310	228557697	20692924	31	24347										
DISC1	27185	hgsc.bcm.edu	37	chr1	231931010	231931010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tccaggaaagaataaaatccCtcaacttgtcacttaaagaa	5	9	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:231931010C>A	ENST00000602281.1	+	7	1710	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.L553I|DISC1_ENST00000366636.4_Missense_Mutation_p.L553I|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.L553I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.L553I|DISC1_ENST00000366633.3_Missense_Mutation_p.L553I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	553	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AATAAAATCCCTCAACTTGTC	0.353																																					p.L585I		Atlas-SNP	.											.	DISC1	207	.	0			c.C1753A						PASS	.						84	85	85					1																	231931010		2203	4300	6503	SO:0001583	missense	27185	exon8			AAATCCCTCAACT	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1657C>A	1.37:g.231931010C>A	ENSP00000473425:p.Leu553Ile	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	102	24	0.235294	NM_001164537	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171714	0.57584	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633;ENST00000539444	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	4.72	3.8	0.43715	.	0.079041	0.51477	D	0.000093	D	0.86760	0.6010	L	0.54323	1.7	0.80722	D	1	D;D;D;P;D;D;P;D;D;P;P;D;P;D;P;P	0.76494	0.986;0.999;0.989;0.75;0.972;0.998;0.513;0.972;0.972;0.754;0.75;0.986;0.859;0.986;0.859;0.754	P;D;P;B;P;P;B;P;P;B;B;P;B;P;P;B	0.67725	0.799;0.953;0.846;0.292;0.536;0.885;0.191;0.536;0.536;0.37;0.292;0.683;0.435;0.683;0.586;0.37	D	0.86889	0.2047	10	0.72032	D	0.01	-7.753	9.8129	0.40835	0.0:0.8338:0.0:0.1662	.	585;431;585;553;553;431;553;553;553;553;553;553;553;553;553;553	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P095;C4P0B6;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	I	553;553;553;585;431;553;553;553	ENSP00000403888:L553I;ENSP00000355596:L553I;ENSP00000443996:L553I;ENSP00000355593:L553I;ENSP00000440953:L553I	ENSP00000355593:L553I	L	+	1	0	DISC1	229997633	0.837000	0.29446	0.983000	0.44433	0.993000	0.82548	1.489000	0.35562	1.312000	0.45043	0.557000	0.71058	CTC	.	.	none		0.353	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		A	231931010	C	A	231931010	3	1	41	1	0	0	0	0	1	0	0	0	4538	681	24	4	2056	4	DISC1	1	231931010	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3373313	231931010	17319611	32	24348										
FMN2	56776	hgsc.bcm.edu	37	chr1	240371409	240371409	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggagcgggcataccccctccGccccctctacccggagtggg	13	18	1	0	rs373533409	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:240371409G>T	ENST00000319653.9	+	5	3527	c.3297G>T	c.(3295-3297)ccG>ccT	p.P1099P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTAC	0.731																																					p.P1099P		Atlas-SNP	.											FMN2,NS,neuroblastoma,0,1	FMN2	451	1	0			c.G3297T						scavenged	.						6	8	8					1																	240371409		2016	4072	6088	SO:0001819	synonymous_variant	56776	exon5			CCCTCCGCCCCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3297G>T	1.37:g.240371409G>T		Somatic	23	2	0.0869565		WXS	Illumina HiSeq	Phase_I	49	4	0.0816327	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.	.	none		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371409	G	T	240371409	2	4	41	1	0	0	0	0	0	0	0	1	5950	1074	38	4		4	FMN2	1	240371409	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	8440399	240371409	8879212	33	24349										
FMN2	56776	hgsc.bcm.edu	37	chr1	240635709	240635709	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggtgtgtagacagaagaaaGgaaaatcactttataaaata	9	3	1	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:240635709G>T	ENST00000319653.9	+	17	5328	c.5098G>T	c.(5098-5100)Gga>Tga	p.G1700*	FMN2_ENST00000545751.1_Nonsense_Mutation_p.G296*|FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000543681.1_Nonsense_Mutation_p.G20*	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1700					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACAGAAGAAAGGAAAATCACT	0.318																																					p.G1700X		Atlas-SNP	.											.	FMN2	451	.	0			c.G5098T						PASS	.						77	85	82					1																	240635709		2203	4298	6501	SO:0001587	stop_gained	56776	exon17			AAGAAAGGAAAAT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5098G>T	1.37:g.240635709G>T	ENSP00000318884:p.Gly1700*	Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	172	32	0.186047	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	40	8.160609	0.98683	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993;ENST00000543681	.	.	.	5.83	5.83	0.93111	.	0.192599	0.35555	N	0.003121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.3013	0.90164	0.0:0.0:1.0:0.0	.	.	.	.	X	1700;296;327;176;20	.	ENSP00000318884:G1700X	G	+	1	0	FMN2	238702332	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.247000	0.72411	2.758000	0.94735	0.655000	0.94253	GGA	.	.	none		0.318	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240635709	G	T	240635709	4	4	41	1	0	0	0	0	0	1	0	0	5950	1001	35	4	5164	4	FMN2	1	240635709	Nonsense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	264300	240635709	8614912	34	24350										
C1orf101	257044	hgsc.bcm.edu	37	chr1	244769022	244769022	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgataatggctatgttaaaGacgttgaagcaaatttcata	8	4	1	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr1:244769022G>A	ENST00000366534.4	+	18	2383	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.D777N|C1orf101_ENST00000366531.3_Missense_Mutation_p.D626N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	777						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CTATGTTAAAGACGTTGAAGC	0.353																																					p.D777N		Atlas-SNP	.											.	C1orf101	158	.	0			c.G2329A						PASS	.						127	124	125					1																	244769022		2203	4300	6503	SO:0001583	missense	257044	exon18			GTTAAAGACGTTG	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2329G>A	1.37:g.244769022G>A	ENSP00000355492:p.Asp777Asn	Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	135	33	0.244444	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060538	0.36373	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.36	0.0116	0.14088	.	1.258880	0.05240	N	0.511932	T	0.40694	0.1127	L	0.53249	1.67	0.09310	N	1	B;P;D;D	0.76494	0.1;0.872;0.999;0.991	B;P;D;P	0.66351	0.046;0.529;0.943;0.883	T	0.20371	-1.0277	10	0.62326	D	0.03	.	4.3263	0.11041	0.2737:0.3237:0.4026:0.0	.	697;777;777;626	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	777;777;777;697;626	ENSP00000355492:D777N;ENSP00000355491:D777N;ENSP00000395796:D697N;ENSP00000355489:D626N	ENSP00000355489:D626N	D	+	1	0	C1orf101	242835645	0.865000	0.29922	0.001000	0.08648	0.005000	0.04900	0.641000	0.24720	-0.030000	0.13804	0.585000	0.79938	GAC	.	.	none		0.353	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		A	244769022	G	A	244769022	3	1	41	1	0	0	0	0	1	0	0	0	1976	942	33	2	2399	2	C1orf101	1	244769022	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4133313	244769022	4481599	35	24351										
TSSC1	7260	hgsc.bcm.edu	37	chr2	3261073	3261073	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aatatgcaaaatcctaccagGccatgttgccatgggctgtg	10	10	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:3261073G>C	ENST00000382125.4	-	4	605	c.413C>G	c.(412-414)gCc>gGc	p.A138G	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138G|TSSC1_ENST00000398659.4_Missense_Mutation_p.A165G	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATCCTACCAGGCCATGTTGCC	0.562																																					p.A138G	Colon(140;1261 1762 4183 34270 49743)	Atlas-SNP	.											.	TSSC1	39	.	0			c.C413G						PASS	.						89	80	83					2																	3261073		2203	4300	6503	SO:0001583	missense	7260	exon4			TACCAGGCCATGT	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.413C>G	2.37:g.3261073G>C	ENSP00000371559:p.Ala138Gly	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	60	13	0.216667	NM_003310	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914595	0.72983	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.13657	2.57;2.57;2.57	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.15825	0.0381	L	0.60455	1.87	0.80722	D	1	P	0.45902	0.868	B	0.37692	0.256	T	0.08289	-1.0729	10	0.18276	T	0.48	.	18.6315	0.91361	0.0:0.0:1.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	G	138;165;138	ENSP00000371559:A138G;ENSP00000381652:A165G;ENSP00000389080:A138G	ENSP00000371559:A138G	A	-	2	0	TSSC1	3240080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.626000	0.88956	0.650000	0.86243	GCC	.	.	none		0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		C	3261073	G	C	3261073	3	2	41	1	0	0	0	0	1	0	0	0	16663	1203	42	4	774	4	TSSC1	2	3261073	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		3261073	239938300	36	24352										
RHOB	388	hgsc.bcm.edu	37	chr2	20647760	20647760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gagacggccacgcgcgccgcGctgcagaagcgctacggctc	15	16	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:20647760G>A	ENST00000272233.4	+	1	926	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	178					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CGCGCGCCGCGCTGCAGAAGC	0.697																																					p.A178A		Atlas-SNP	.											.	RHOB	18	.	0			c.G534A						PASS	.						45	48	47					2																	20647760		2181	4268	6449	SO:0001819	synonymous_variant	388	exon1			CGCCGCGCTGCAG		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.534G>A	2.37:g.20647760G>A		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	56	16	0.285714	NM_004040	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	CCDS1699.1																																																																																			.	.	none		0.697	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		A	20647760	G	A	20647760	2	1	41	1	0	0	0	0	0	0	0	1	13332	1074	38	1		1	RHOB	2	20647760	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	17386687	20647760	222551613	37	24353										
TMEM214	54867	hgsc.bcm.edu	37	chr2	27260571	27260571	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cccctgagatgaagaaagagGtgaggatatggtgggaggct	17	5	0	5			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:27260571G>A	ENST00000238788.9	+	9	1214		c.e9+1		TMEM214_ENST00000404032.3_Splice_Site	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214						apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAAGAAAGAGGTGAGGATATG	0.557																																					.		Atlas-SNP	.											.	TMEM214	41	.	0			c.1017+1G>A						PASS	.						87	87	87					2																	27260571		1896	4122	6018	SO:0001630	splice_region_variant	54867	exon8			AAAGAGGTGAGGA		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1152+1G>A	2.37:g.27260571G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	150	40	0.266667	NM_001083590	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Splice_Site	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175815	0.78564	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000425720	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2941	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM214	27114075	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.222000	0.95196	2.700000	0.92200	0.561000	0.74099	.	.	.	none		0.557	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	Intron	A	27260571	G	A	27260571	5	1	41	1	0	0	0	0	0	0	1	0	16134	1275	44	2	1187	2	TMEM214	2	27260571	Splice_Site	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	6612811	27260571	215938802	38	24354										
DNAH6	1768	hgsc.bcm.edu	37	chr2	84921393	84921393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gattgctcggatgatacgtcAagaaagaggcaatgccctgc	12	9	1	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:84921393A>G	ENST00000237449.6	+	45	7321	c.7313A>G	c.(7312-7314)cAa>cGa	p.Q2438R	DNAH6_ENST00000398278.2_Missense_Mutation_p.Q2389R|DNAH6_ENST00000389394.3_Missense_Mutation_p.Q2438R|DNAH6_ENST00000602588.1_Missense_Mutation_p.Q410R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2438	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGATACGTCAAGAAAGAGGC	0.493																																					p.Q2438R		Atlas-SNP	.											.	DNAH6	194	.	0			c.A7313G						PASS	.						127	107	113					2																	84921393		692	1591	2283	SO:0001583	missense	1768	exon46			TACGTCAAGAAAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7313A>G	2.37:g.84921393A>G	ENSP00000237449:p.Gln2438Arg	Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	103	35	0.339806	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645427	0.87859	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.41400	1.0;1.0;1.0	5.47	5.47	0.80525	Dynein heavy chain, P-loop containing D4 domain (1);	.	.	.	.	T	0.72104	0.3419	M	0.92833	3.35	0.49130	D	0.999757	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.975	T	0.79550	-0.1757	9	0.66056	D	0.02	.	14.5287	0.67909	1.0:0.0:0.0:0.0	.	2438;2389	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	R	2438;2389;2438	ENSP00000374045:Q2438R;ENSP00000381326:Q2389R;ENSP00000237449:Q2438R	ENSP00000237449:Q2438R	Q	+	2	0	DNAH6	84774904	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.088000	0.89523	2.074000	0.62210	0.533000	0.62120	CAA	.	.	none		0.493	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84921393	A	G	84921393	3	3	41	1	0	0	0	0	1	0	0	0	4605	130	5	2	7491	2	DNAH6	2	84921393	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	57660822	84921393	158277980	39	24355										
RANBP2	5903	hgsc.bcm.edu	37	chr2	109371659	109371659	+	Missense_Mutation	SNP	G	G	A													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccaaaacaccacctcgatggGcagaagatcagaattcttta							TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:109371659G>A	ENST00000283195.6	+	17	2536	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	804					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTCGATGGGCAGAAGATCA	0.308																																					p.A804T		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,0,2	RANBP2	488	2	0			c.G2410A						scavenged	.						140	163	155					2																	109371659		2199	4297	6496	SO:0001583	missense	5903	exon17			CGATGGGCAGAAG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2410G>A	2.37:g.109371659G>A	ENSP00000283195:p.Ala804Thr	Somatic	598	5	0.0083612		WXS	Illumina HiSeq	Phase_I	662	12	0.0181269	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919938	0.92249	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.19105	2.17	5.8	5.8	0.92144	.	.	.	.	.	T	0.34337	0.0894	L	0.34521	1.04	0.49130	D	0.999754	D	0.67145	0.996	P	0.58331	0.837	T	0.01532	-1.1331	9	0.54805	T	0.06	-13.8517	20.0609	0.97674	0.0:0.0:1.0:0.0	.	804	P49792	RBP2_HUMAN	T	804	ENSP00000283195:A804T	ENSP00000283195:A804T	A	+	1	0	RANBP2	108738091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.714000	0.74692	2.737000	0.93849	0.542000	0.68232	GCA	.	.	none		0.308	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109371659	G	A	109371659	3	1	41	1	0	0	0	0	1	0	0	0	13028	1203	42	2	2476	2	RANBP2	2	109371659	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	24450266	109371659	133827714	40	24356	502	2								
RANBP2	5903	hgsc.bcm.edu	37	chr2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acctcgatgggcagaagatcAgaattctttactgaaaatga							TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGAAGATCAGAATTCTTTA	0.333																																					p.Q807R		Atlas-SNP	.											RANBP2_ENST00000283195,NS,carcinoma,-1,2	RANBP2	488	2	0			c.A2420G						scavenged	.						148	169	162					2																	109371669		2201	4299	6500	SO:0001583	missense	5903	exon17			AAGATCAGAATTC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2420A>G	2.37:g.109371669A>G	ENSP00000283195:p.Gln807Arg	Somatic	633	3	0.00473934		WXS	Illumina HiSeq	Phase_I	680	10	0.0147059	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.182482	0.57800	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25749	1.78	5.8	5.8	0.92144	.	.	.	.	.	T	0.30634	0.0771	L	0.36672	1.1	0.37082	D	0.89904	P	0.52463	0.953	P	0.50109	0.631	T	0.11251	-1.0595	9	0.30854	T	0.27	-7.4262	16.1496	0.81605	1.0:0.0:0.0:0.0	.	807	P49792	RBP2_HUMAN	R	807	ENSP00000283195:Q807R	ENSP00000283195:Q807R	Q	+	2	0	RANBP2	108738101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	CAG	.	.	none		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109371669	A	G	109371669	3	3	41	1	0	0	0	0	1	0	0	0	13028	188	7	3	2486	3	RANBP2	2	109371669	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	10	109371669	133827704	41	24357	502	2								
NCKAP5	344148	hgsc.bcm.edu	37	chr2	133636475	133636475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttttcattctccaaagccaaCgctgaattctctgcctgcag	6	13	3	1	rs200896980	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:133636475C>T	ENST00000409261.1	-	9	967	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NCKAP5_ENST00000409213.1_Silent_p.A198A|NCKAP5_ENST00000317721.6_Silent_p.A198A|NCKAP5_ENST00000405974.3_Silent_p.A198A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	198										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAAAGCCAACGCTGAATTCT	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19695	0.0		0.0	False		,,,				2504	0.0				p.A198A		Atlas-SNP	.											NCKAP5_ENST00000405974,colon,carcinoma,-1,2	NCKAP5	322	2	0			c.G594A						PASS	.	C	,	5,3941		0,5,1968	159	149	152		594,594	-11.1	0.7	2		152	0,8296		0,0,4148	no	coding-synonymous,coding-synonymous	NCKAP5	NM_207363.2,NM_207481.3	,	0,5,6116	TT,TC,CC		0.0,0.1267,0.0408	,	198/1910,198/591	133636475	5,12237	1973	4148	6121	SO:0001819	synonymous_variant	344148	exon9			AGCCAACGCTGAA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.594G>A	2.37:g.133636475C>T		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	94	25	0.265957	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																			C|1.000;T|0.000	0.000	strong		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133636475	C	T	133636475	2	4	41	1	0	0	0	0	0	0	0	1	10223	523	19	1		1	NCKAP5	2	133636475	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	24264806	133636475	109562898	42	24358										
KCNJ3	3760	hgsc.bcm.edu	37	chr2	155566166	155566166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cccttgaccaacttgaactgGatgtaggttttagtacaggg	11	8	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:155566166G>A	ENST00000295101.2	+	2	1231	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	252					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACTTGAACTGGATGTAGGTTT	0.463																																					p.D252N		Atlas-SNP	.											KCNJ3,NS,carcinoma,0,2	KCNJ3	126	2	0			c.G754A						PASS	.						118	113	115					2																	155566166		2203	4300	6503	SO:0001583	missense	3760	exon2			GAACTGGATGTAG	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.754G>A	2.37:g.155566166G>A	ENSP00000295101:p.Asp252Asn	Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	239	54	0.225941	NM_001260509	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933079	0.34096	.	.	ENSG00000162989	ENST00000295101	D	0.93604	-3.25	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.045255	0.85682	D	0.000000	D	0.83238	0.5211	N	0.01800	-0.715	0.80722	D	1	B	0.18166	0.026	B	0.26416	0.069	T	0.79322	-0.1851	10	0.07030	T	0.85	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	252	P48549	IRK3_HUMAN	N	252	ENSP00000295101:D252N	ENSP00000295101:D252N	D	+	1	0	KCNJ3	155274412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.831000	0.97527	0.650000	0.86243	GAT	.	.	none		0.463	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		A	155566166	G	A	155566166	3	1	41	1	0	0	0	0	1	0	0	0	8052	1174	41	2	760	2	KCNJ3	2	155566166	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	21929691	155566166	87633207	43	24359										
TTC30B	150737	hgsc.bcm.edu	37	chr2	178415820	178415820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aataccaaagtcataatttcCtttggcacaataaagagttc	5	8	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:178415820C>T	ENST00000408939.3	-	1	1922	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	558					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCATAATTTCCTTTGGCACAA	0.388																																					p.G558R		Atlas-SNP	.											.	TTC30B	44	.	0			c.G1672A						PASS	.						183	193	189					2																	178415820		2203	4300	6503	SO:0001583	missense	150737	exon1			AATTTCCTTTGGC	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1672G>A	2.37:g.178415820C>T	ENSP00000386181:p.Gly558Arg	Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	291	76	0.261168	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352187	0.61183	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.21031	2.03	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67465	-0.5664	10	0.87932	D	0	.	18.5618	0.91102	0.0:1.0:0.0:0.0	.	558	Q8N4P2	TT30B_HUMAN	R	511;558	ENSP00000386181:G558R	ENSP00000386181:G558R	G	-	1	0	TTC30B	178124066	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.918000	0.75788	2.675000	0.91044	0.655000	0.94253	GGA	.	.	none		0.388	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		T	178415820	C	T	178415820	3	4	41	1	0	0	0	0	1	0	0	0	16696	690	24	2	329	2	TTC30B	2	178415820	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	22849654	178415820	64783553	44	24360										
COL6A3	1293	hgsc.bcm.edu	37	chr2	238249705	238249705	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctaagatgaaagccatgtcGatgtccacatcgctccctgc	8	13	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:238249705G>A	ENST00000295550.4	-	38	8306	c.7854C>T	c.(7852-7854)atC>atT	p.I2618I	COL6A3_ENST00000346358.4_Silent_p.I2418I|COL6A3_ENST00000472056.1_Silent_p.I2011I|COL6A3_ENST00000353578.4_Silent_p.I2412I|COL6A3_ENST00000347401.3_Silent_p.I2417I|COL6A3_ENST00000409809.1_Silent_p.I2412I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2618	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCATGTCGATGTCCACAT	0.517																																					p.I2618I		Atlas-SNP	.											.	COL6A3	608	.	0			c.C7854T						PASS	.						175	171	172					2																	238249705		2203	4300	6503	SO:0001819	synonymous_variant	1293	exon38			CATGTCGATGTCC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7854C>T	2.37:g.238249705G>A		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	105	39	0.371429	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			.	.	none		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238249705	G	A	238249705	2	1	41	1	0	0	0	0	0	0	0	1	3701	1048	37	1		1	COL6A3	2	238249705	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	59833885	238249705	4949668	45	24361										
PRR21	643905	hgsc.bcm.edu	37	chr2	240982052	240982052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	21	5	0	4	rs77588089		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																					p.S116S		Atlas-SNP	.											PRR21,pharynx,carcinoma,0,4	PRR21	53	4	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)	c.G348C						scavenged	.						5	6	6					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905	exon1			CATGGACGAAGGG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	25	4	0.16	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			C|0.250;G|0.750	0.750	weak		0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982052	C	G	240982052	2	3	41	1	0	0	0	0	0	0	0	1	12592	523	19	4		4	PRR21	2	240982052	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	2732347	240982052	2217321	46	24362										
SCN5A	6331	hgsc.bcm.edu	37	chr3	38620946	38620946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggctccaggtcctggaatccGgaggggcctctgggccaccg	16	14	1	0	rs1805125	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:38620946G>A	ENST00000333535.4	-	18	3418	c.3269C>T	c.(3268-3270)cCg>cTg	p.P1090L	SCN5A_ENST00000423572.2_Missense_Mutation_p.P1089L|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1089L|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1090L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1089L|SCN5A_ENST00000413689.1_Missense_Mutation_p.P1090L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1090L|SCN5A_ENST00000450102.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1090			P -> L (in dbSNP:rs1805125). {ECO:0000269|PubMed:18368697}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGAATCCGGAGGGGCCTC	0.657													G|||	22	0.00439297	0.0	0.0	5008	,	,		17928	0.0198		0.001	False		,,,				2504	0.001				p.P1090L		Atlas-SNP	.											SCN5A,brain,primitive_neuroectodermal_tumour-medulloblastoma,+1,1	SCN5A	634	1	0			c.C3269T						PASS	.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,,LEU/PRO	1,4049		0,1,2024	18	21	20		3266,3269,3269,3266,,3269	-0.6	0	3	dbSNP_89	20	0,8396		0,0,4198	yes	missense,missense,missense,missense,intron,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	98,98,98,98,,98	0,1,6222	AA,AG,GG		0.0,0.0247,0.0080	,,,,,	1089/2016,1090/2017,1090/1999,1089/1984,,1090/2017	38620946	1,12445	2025	4198	6223	SO:0001583	missense	6331	exon18			GAATCCGGAGGGG	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3269C>T	3.37:g.38620946G>A	ENSP00000328968:p.Pro1090Leu	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	66	19	0.287879	NM_198056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	G	4.704	0.130956	0.08981	2.47E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624	D;D;D;D;D;D;D	0.95690	-3.68;-3.72;-3.7;-3.72;-3.68;-3.7;-3.78	4.3	-0.553	0.11815	Sodium ion transport-associated (1);	1.922100	0.02137	N	0.056824	D	0.86932	0.6052	L	0.53249	1.67	0.09310	N	1	B;B;B;B;B;B	0.21452	0.056;0.046;0.056;0.056;0.031;0.046	B;B;B;B;B;B	0.19946	0.027;0.024;0.027;0.027;0.014;0.016	T	0.74940	-0.3493	10	0.40728	T	0.16	.	0.7669	0.01016	0.1995:0.1546:0.3682:0.2777	rs1805125	1089;1090;1090;1090;1089;1090	E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	L	1090;1089;1090;1089;1090;1090;1089	ENSP00000398962:P1090L;ENSP00000398266:P1089L;ENSP00000410257:P1090L;ENSP00000397915:P1089L;ENSP00000416634:P1090L;ENSP00000328968:P1090L;ENSP00000399524:P1089L	ENSP00000328968:P1090L	P	-	2	0	SCN5A	38595950	0.020000	0.18652	0.007000	0.13788	0.179000	0.23085	-0.113000	0.10774	-0.096000	0.12329	-0.123000	0.14984	CCG	G|0.994;A|0.006	0.006	strong		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38620946	G	A	38620946	3	1	41	1	0	0	0	0	1	0	0	0	13922	1116	39	1	2825	1	SCN5A	3	38620946	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		38620946	159401484	47	24363										
ULK4	54986	hgsc.bcm.edu	37	chr3	41954353	41954353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgctccagcaaaagctttcTtccaaaatgaatgctgcagt	7	11	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:41954353T>C	ENST00000301831.4	-	9	1304	c.842A>G	c.(841-843)aAg>aGg	p.K281R	ULK4_ENST00000420927.1_Missense_Mutation_p.K281R	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	281					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAAAGCTTTCTTCCAAAATGA	0.373																																					p.K281R		Atlas-SNP	.											.	ULK4	150	.	0			c.A842G						PASS	.						91	86	87					3																	41954353		1872	4096	5968	SO:0001583	missense	54986	exon9			GCTTTCTTCCAAA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.842A>G	3.37:g.41954353T>C	ENSP00000301831:p.Lys281Arg	Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	88	24	0.272727	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	9.925	1.213261	0.22289	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.74106	-0.81;1.87	5.17	3.97	0.46021	Protein kinase-like domain (1);	0.592998	0.19166	N	0.121075	T	0.65984	0.2744	L	0.55103	1.725	0.80722	D	1	B;B	0.16396	0.017;0.007	B;B	0.12156	0.007;0.007	T	0.57888	-0.7733	10	0.29301	T	0.29	.	7.7383	0.28827	0.0:0.1693:0.0:0.8307	.	281;281	B4E2M4;Q96C45	.;ULK4_HUMAN	R	281	ENSP00000301831:K281R;ENSP00000412187:K281R	ENSP00000301831:K281R	K	-	2	0	ULK4	41929357	1.000000	0.71417	0.858000	0.33744	0.931000	0.56810	2.876000	0.48498	0.784000	0.33661	0.533000	0.62120	AAG	.	.	none		0.373	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41954353	T	C	41954353	3	2	41	1	0	0	0	0	1	0	0	0	16975	1609	56	3	3101	3	ULK4	3	41954353	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	3333407	41954353	156068077	48	24364										
CAMP	820	hgsc.bcm.edu	37	chr3	48265112	48265112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	caggtcctcagctacaaggaAgctgtgcttcgtgctataga	11	10	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:48265112A>G	ENST00000576243.1	+	1	251	c.111A>G	c.(109-111)gaA>gaG	p.E37E	CAMP_ENST00000296435.2_Silent_p.E40E			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	37					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTACAAGGAAGCTGTGCTTC	0.612																																					p.E40E		Atlas-SNP	.											.	CAMP	12	.	0			c.A120G						PASS	.						96	78	84					3																	48265112		2203	4300	6503	SO:0001819	synonymous_variant	820	exon1			CAAGGAAGCTGTG	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.111A>G	3.37:g.48265112A>G		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	78	18	0.230769	NM_004345	Q71SN9	Silent	SNP	ENST00000576243.1	37																																																																																				.	.	none		0.612	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		G	48265112	A	G	48265112	2	3	41	1	0	0	0	0	0	0	0	1	2610	69	3	3		3	CAMP	3	48265112	Silent	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	6310759	48265112	149757318	49	24365										
EPHA3	2042	hgsc.bcm.edu	37	chr3	89480468	89480468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tttctgatttcggactttcgCgtgtcctggaggatgaccca	11	10	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:89480468C>T	ENST00000336596.2	+	13	2530	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	EPHA3_ENST00000494014.1_Missense_Mutation_p.R769C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGGACTTTCGCGTGTCCTGGA	0.428										TSP Lung(6;0.00050)																											p.R769C		Atlas-SNP	.											EPHA3,colon,carcinoma,-1,5	EPHA3	501	5	0			c.C2305T						PASS	.						129	122	124					3																	89480468		2203	4300	6503	SO:0001583	missense	2042	exon13			CTTTCGCGTGTCC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2305C>T	3.37:g.89480468C>T	ENSP00000337451:p.Arg769Cys	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	94	23	0.244681	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152892	0.57259	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.85484	-1.99;-1.99	5.33	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94943	0.8093	9	.	.	.	.	15.9138	0.79496	0.1354:0.8646:0.0:0.0	.	769	P29320	EPHA3_HUMAN	C	769	ENSP00000337451:R769C;ENSP00000419190:R769C	.	R	+	1	0	EPHA3	89563158	0.992000	0.36948	0.994000	0.49952	0.272000	0.26649	3.027000	0.49697	2.648000	0.89879	0.585000	0.79938	CGT	.	.	none		0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89480468	C	T	89480468	3	4	41	1	0	0	0	0	1	0	0	0	5168	768	27	1	2381	1	EPHA3	3	89480468	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	41215356	89480468	108541962	50	24366										
EPHA6	285220	hgsc.bcm.edu	37	chr3	97466293	97466293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agagtcccctggtgaagttcCggaatatcctttgtttgtca	10	9	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:97466293C>T	ENST00000389672.5	+	17	3193	c.3155C>T	c.(3154-3156)cCg>cTg	p.P1052L		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	958						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTGAAGTTCCGGAATATCCT	0.393																																					p.P1052L		Atlas-SNP	.											.	EPHA6	439	.	0			c.C3155T						PASS	.						80	72	75					3																	97466293		1838	4102	5940	SO:0001583	missense	285220	exon17			AAGTTCCGGAATA	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3155C>T	3.37:g.97466293C>T	ENSP00000374323:p.Pro1052Leu	Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	123	19	0.154472	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375336	0.42105	.	.	ENSG00000080224	ENST00000389672	T	0.74737	-0.87	5.39	5.39	0.77823	.	.	.	.	.	T	0.75561	0.3866	N	0.25485	0.75	0.80722	D	1	.	.	.	.	.	.	T	0.77755	-0.2469	7	0.66056	D	0.02	.	19.5176	0.95170	0.0:1.0:0.0:0.0	.	.	.	.	L	1052	ENSP00000374323:P1052L	ENSP00000374323:P1052L	P	+	2	0	EPHA6	98948983	0.119000	0.22226	0.891000	0.34965	0.612000	0.37316	2.873000	0.48475	2.688000	0.91661	0.585000	0.79938	CCG	.	.	none		0.393	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		T	97466293	C	T	97466293	3	4	41	1	0	0	0	0	1	0	0	0	5171	652	23	1	3338	1	EPHA6	3	97466293	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	7985825	97466293	100556137	51	24367										
ST3GAL6	10402	hgsc.bcm.edu	37	chr3	98503792	98503792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtccatctgtccaacagcatAccctgtaaaaagtgtgtggt	9	10	1	0	rs112115496	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:98503792A>G	ENST00000483910.1	+	6	628	c.339A>G	c.(337-339)atA>atG	p.I113M	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.I113M|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	113					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCAACAGCATACCCTGTAAAA	0.378													A|||	151	0.0301518	0.0068	0.0159	5008	,	,		19968	0.0298		0.0447	False		,,,				2504	0.0573				p.I166M		Atlas-SNP	.											.	ST3GAL6	41	.	0			c.A498G						PASS	.	A	MET/ILE	58,4348	57.4+/-93.9	1,56,2146	94	100	98		339	2.3	0.8	3	dbSNP_132	98	424,8176	130.2+/-188.1	9,406,3885	yes	missense	ST3GAL6	NM_006100.2	10	10,462,6031	GG,GA,AA		4.9302,1.3164,3.706	benign	113/332	98503792	482,12524	2203	4300	6503	SO:0001583	missense	10402	exon6			CAGCATACCCTGT	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.339A>G	3.37:g.98503792A>G	ENSP00000417376:p.Ile113Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	82	21	0.256098	NM_001271145	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	57|57	0.0260989010989011|0.0260989010989011	3|3	0.006097560975609756|0.006097560975609756	5|5	0.013812154696132596|0.013812154696132596	17|17	0.02972027972027972|0.02972027972027972	32|32	0.04221635883905013|0.04221635883905013	A|A	10.14|10.14	1.269663|1.269663	0.23221|0.23221	0.013164|0.013164	0.049302|0.049302	ENSG00000064225|ENSG00000064225	ENST00000483910;ENST00000486334;ENST00000394162;ENST00000492254;ENST00000477574;ENST00000485145|ENST00000460774	T;T;T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57;1.57;1.57|.	5.1|5.1	2.3|2.3	0.28687|0.28687	.|.	0.540578|.	0.17790|.	N|.	0.161907|.	T|T	0.08670|0.08670	0.0215|0.0215	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P;B|.	0.39022|.	0.655;0.171|.	B;B|.	0.43413|.	0.419;0.058|.	T|T	0.05084|0.05084	-1.0907|-1.0907	10|6	0.46703|0.59425	T|D	0.11|0.04	-14.7663|-14.7663	3.8893|3.8893	0.09111|0.09111	0.2742:0.0:0.5599:0.1659|0.2742:0.0:0.5599:0.1659	.|.	136;113|.	C9J480;Q9Y274|.	.;SIA10_HUMAN|.	M|C	113;113;113;136;78;27|92	ENSP00000417376:I113M;ENSP00000418896:I113M;ENSP00000377717:I113M;ENSP00000417201:I136M;ENSP00000419987:I78M;ENSP00000419202:I27M|.	ENSP00000377717:I113M|ENSP00000419209:Y92C	I|Y	+|+	3|2	3|0	ST3GAL6|ST3GAL6	99986482|99986482	0.012000|0.012000	0.17670|0.17670	0.831000|0.831000	0.32960|0.32960	0.325000|0.325000	0.28411|0.28411	0.166000|0.166000	0.16583|0.16583	0.390000|0.390000	0.25115|0.25115	-0.242000|-0.242000	0.12053|0.12053	ATA|TAC	A|0.967;G|0.033	0.033	strong		0.378	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		G	98503792	A	G	98503792	3	3	41	1	0	0	0	0	1	0	0	0	15218	381	14	2	357	2	ST3GAL6	3	98503792	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	1037499	98503792	99518638	52	24368										
ZNF80	7634	hgsc.bcm.edu	37	chr3	113955390	113955390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agtgtgaatcttcatgtgccGggttaaggaagagttgtagt	14	4	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:113955390G>A	ENST00000482457.2	-	1	1035	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	178					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTCATGTGCCGGGTTAAGGAA	0.478																																					p.R178W	GBM(23;986 1114 21716)	Atlas-SNP	.											ZNF80,colon,carcinoma,+1,1	ZNF80	75	1	0			c.C532T						PASS	.						122	125	124					3																	113955390		2203	4300	6503	SO:0001583	missense	7634	exon1			TGTGCCGGGTTAA	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.532C>T	3.37:g.113955390G>A	ENSP00000417192:p.Arg178Trp	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	71	15	0.211268	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243323	0.58995	.	.	ENSG00000174255	ENST00000482457	T	0.26660	1.72	2.81	0.881	0.19166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43809	0.1264	M	0.76574	2.34	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.18587	-1.0332	9	0.72032	D	0.01	.	5.0015	0.14266	0.0:0.2352:0.3717:0.3931	.	178	P51504	ZNF80_HUMAN	W	178	ENSP00000417192:R178W	ENSP00000309812:R178W	R	-	1	2	ZNF80	115438080	0.000000	0.05858	0.000000	0.03702	0.781000	0.44180	-5.966000	0.00088	0.205000	0.20568	-0.314000	0.08810	CGG	.	.	none		0.478	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		A	113955390	G	A	113955390	3	1	41	1	0	0	0	0	1	0	0	0	18165	1115	39	1	293	1	ZNF80	3	113955390	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	15451598	113955390	84067040	53	24369										
KALRN	8997	hgsc.bcm.edu	37	chr3	124165041	124165041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gctcctgcagagggagaatcGcgtgctgcatttctggacct	13	11	1	2	rs375081975		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:124165041G>A	ENST00000240874.3	+	20	3498	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	KALRN_ENST00000360013.3_Missense_Mutation_p.R1114H|KALRN_ENST00000460856.1_Missense_Mutation_p.R1105H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1114					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGAGAATCGCGTGCTGCAT	0.557																																					p.R1114H		Atlas-SNP	.											.	KALRN	556	.	0			c.G3341A						PASS	.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	99	102		3341,3341	5.2	0.8	3		102	0,8600		0,0,4300	no	missense,missense	KALRN	NM_001024660.3,NM_003947.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1114/2987,1114/1664	124165041	1,13005	2203	4300	6503	SO:0001583	missense	8997	exon20			AGAATCGCGTGCT	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3341G>A	3.37:g.124165041G>A	ENSP00000240874:p.Arg1114His	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	59	10	0.169492	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.325430|5.325430	0.95708|0.95708	2.27E-4|2.27E-4	0.0|0.0	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.925;0.987;0.999	T|T	0.54873|0.54873	-0.8228|-0.8228	5|10	.|0.33940	.|T	.|0.23	.|.	18.9721|18.9721	0.92719|0.92719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1105;460;1114;1114	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	T|H	1083|1105;1114;1114	.|ENSP00000418611:R1105H;ENSP00000240874:R1114H;ENSP00000353109:R1114H	.|ENSP00000240874:R1114H	A|R	+|+	1|2	0|0	KALRN|KALRN	125647731|125647731	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.945000|0.945000	0.59286|0.59286	9.611000|9.611000	0.98342|0.98342	2.721000|2.721000	0.93114|0.93114	0.561000|0.561000	0.74099|0.74099	GCG|CGC	.	.	weak		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	124165041	G	A	124165041	3	1	41	1	0	0	0	0	1	0	0	0	7975	1087	38	1	3419	1	KALRN	3	124165041	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	10209651	124165041	73857389	54	24370										
TFDP2	7029	hgsc.bcm.edu	37	chr3	141688919	141688921	+	In_Frame_Del	DEL	AGG	AGG	-													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atctcggtatctttacctgtAggagaagttcttgcagctgg							TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:141688919_141688921delAGG	ENST00000489671.1	-	9	1156_1158	c.726_728delCCT	c.(724-729)ctccta>cta	p.242_243LL>L	TFDP2_ENST00000397991.4_In_Frame_Del_p.214_215LL>L|TFDP2_ENST00000477292.1_In_Frame_Del_p.106_107LL>L|TFDP2_ENST00000486111.1_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000467072.1_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000310282.6_In_Frame_Del_p.182_183LL>L|TFDP2_ENST00000479040.1_In_Frame_Del_p.181_182LL>L|TFDP2_ENST00000495310.1_In_Frame_Del_p.145_146LL>L|TFDP2_ENST00000317104.7_In_Frame_Del_p.166_167LL>L|TFDP2_ENST00000499676.2_In_Frame_Del_p.182_183LL>L			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	242	DCB1.|Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CTTTACCTGTAGGAGAAGTTCTT	0.429																																					p.243_243del		Pindel,Atlas-Indel	.											.	TFDP2	44	.	0			c.727_729del						PASS	.																																			SO:0001651	inframe_deletion	7029	exon9			.	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.726_728delCCT	3.37:g.141688919_141688921delAGG	ENSP00000420616:p.Leu243del	Somatic	164	.	.		WXS	Illumina HiSeq	Phase_I	165	31	0.188	NM_001178139	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	In_Frame_Del	DEL	ENST00000489671.1	37	CCDS54650.1																																																																																			.	.	none		0.429	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		-	141688921	AGG	-	141688919	7	5	41	1	0	1	0	1	0	0	0	0	15795	420	15	0	632	0	TFDP2	3	141688919	In_Frame_Del	DEL	AGG	TCGA-VB-A8QN-01A-11D-A382-10	17523878	141688919	56333511	55	24371										
PAQR9	344838	hgsc.bcm.edu	37	chr3	142681479	142681479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaacgggtaggtacaccagtCggtacggctcttgcagcagg	15	10	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:142681479C>A	ENST00000340634.3	-	1	699	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	234						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GTACACCAGTCGGTACGGCTC	0.657																																					p.D234Y		Atlas-SNP	.											.	PAQR9	57	.	0			c.G700T						PASS	.						63	59	60					3																	142681479		2203	4300	6503	SO:0001583	missense	344838	exon1			ACCAGTCGGTACG	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.700G>T	3.37:g.142681479C>A	ENSP00000341564:p.Asp234Tyr	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	79	25	0.316456	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599051	0.46318	.	.	ENSG00000188582	ENST00000340634	T	0.22945	1.93	5.22	5.22	0.72569	.	0.297111	0.29745	N	0.011320	T	0.15955	0.0384	N	0.04508	-0.205	0.21499	N	0.99967	B	0.14805	0.011	B	0.13407	0.009	T	0.23797	-1.0178	10	0.51188	T	0.08	-30.7356	19.1774	0.93607	0.0:1.0:0.0:0.0	.	234	Q6ZVX9	PAQR9_HUMAN	Y	234	ENSP00000341564:D234Y	ENSP00000341564:D234Y	D	-	1	0	PAQR9	144164169	0.989000	0.36119	0.990000	0.47175	0.896000	0.52359	2.616000	0.46376	2.595000	0.87683	0.655000	0.94253	GAC	.	.	none		0.657	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		A	142681479	C	A	142681479	3	1	41	1	0	0	0	0	1	0	0	0	11442	884	31	4	437	4	PAQR9	3	142681479	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	992560	142681479	55340951	56	24372										
GPR149	344758	hgsc.bcm.edu	37	chr3	154139035	154139035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtaatatcagtatttgtgcaTttgttgatgcctctttgtgt	9	5	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:154139035T>C	ENST00000389740.2	-	3	1515	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	472					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TATTTGTGCATTTGTTGATGC	0.398																																					p.K472K		Atlas-SNP	.											.	GPR149	134	.	0			c.A1416G						PASS	.						303	289	293					3																	154139035		1965	4147	6112	SO:0001819	synonymous_variant	344758	exon3			TGTGCATTTGTTG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1416A>G	3.37:g.154139035T>C		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	251	66	0.262948	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																			.	.	none		0.398	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154139035	T	C	154139035	2	2	41	1	0	0	0	0	0	0	0	1	6654	1490	52	2		2	GPR149	3	154139035	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	11457556	154139035	43883395	57	24373										
C3orf59	151963	hgsc.bcm.edu	37	chr3	192516412	192516412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gccttgacatgctcaatggcGgtgcgcaagtgctctgccgg	14	12	2	1	rs138837641	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr3:192516412G>A	ENST00000392452.2	-	2	1559	c.1239C>T	c.(1237-1239)acC>acT	p.T413T		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	413							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTCAATGGCGGTGCGCAAGT	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18319	0.001		0.0	False		,,,				2504	0.0				p.T413T		Atlas-SNP	.											MB21D2,NS,carcinoma,0,1	MB21D2	75	1	0			c.C1239T						PASS	.	G		1,4405	2.1+/-5.4	0,1,2202	53	50	51		1239	-10.5	0.1	3	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	MB21D2	NM_178496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		413/492	192516412	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151963	exon2			AATGGCGGTGCGC	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1239C>T	3.37:g.192516412G>A		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	59	21	0.355932	NM_178496	Q86VD8	Silent	SNP	ENST00000392452.2	37	CCDS3302.2																																																																																			G|1.000;A|0.000	0.000	strong		0.612	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		A	192516412	G	A	192516412	2	1	41	1	0	0	0	0	0	0	0	1	2237	1103	39	1		1	C3orf59	3	192516412	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	38377377	192516412	5506018	58	24374										
HTT	3064	hgsc.bcm.edu	37	chr4	3227419	3227419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agccacgagaagctgctgctAcagatcaaccccgagcggga	12	13	1	2	rs362273	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:3227419A>G	ENST00000355072.5	+	57	7942	c.7797A>G	c.(7795-7797)ctA>ctG	p.L2599L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2599					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTGCTGCTACAGATCAACC	0.647													G|||	1234	0.246406	0.1218	0.304	5008	,	,		14498	0.3393		0.3191	False		,,,				2504	0.2035				p.L2599L		Atlas-SNP	.											HTT,caecum,carcinoma,0,1	HTT	221	1	0			c.A7797G						scavenged	.	G		636,3396		56,524,1436	28	32	31		7797	3.1	1	4	dbSNP_79	31	2492,5908		355,1782,2063	no	coding-synonymous	HTT	NM_002111.6		411,2306,3499	GG,GA,AA		29.6667,15.7738,25.1609		2599/3143	3227419	3128,9304	2016	4200	6216	SO:0001819	synonymous_variant	3064	exon57			GCTGCTACAGATC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7797A>G	4.37:g.3227419A>G		Somatic	136	1	0.00735294		WXS	Illumina HiSeq	Phase_I	155	5	0.0322581	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																			A|0.737;G|0.263	0.263	strong		0.647	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3227419	A	G	3227419	2	3	41	1	0	0	0	0	0	0	0	1	7457	378	14	2		2	HTT	4	3227419	Silent	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10		3227419	187926857	59	24375										
RGS12	6002	hgsc.bcm.edu	37	chr4	3418713	3418713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gtaccaggaatgcatcctggCggaagtggagggccgtgcac	16	10	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:3418713C>T	ENST00000344733.5	+	8	3405	c.2501C>T	c.(2500-2502)gCg>gTg	p.A834V	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.A834V|RGS12_ENST00000306648.7_Missense_Mutation_p.A232V|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.A834V|RGS12_ENST00000338806.4_Missense_Mutation_p.A186V|RGS12_ENST00000538395.1_Missense_Mutation_p.A176V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	834					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582																																					p.A834V		Atlas-SNP	.											RGS12,NS,carcinoma,-1,2	RGS12	128	2	0			c.C2501T						PASS	.						63	68	66					4																	3418713		2203	4300	6503	SO:0001583	missense	6002	exon8			TCCTGGCGGAAGT	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2501C>T	4.37:g.3418713C>T	ENSP00000339381:p.Ala834Val	Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	113	32	0.283186	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595185	0.86953	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37	4.54	4.54	0.55810	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.999;0.999;0.999;0.987;0.997	P;P;D;P;D;D;D;P;P	0.65773	0.9;0.844;0.936;0.844;0.938;0.938;0.93;0.712;0.902	T	0.00802	-1.1560	10	0.66056	D	0.02	-27.9321	16.6416	0.85128	0.0:1.0:0.0:0.0	.	176;33;176;33;176;186;232;834;834	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	V	834;834;834;232;186;176	ENSP00000339381:A834V;ENSP00000338509:A834V;ENSP00000372238:A834V;ENSP00000304459:A232V;ENSP00000342133:A186V;ENSP00000438888:A176V	ENSP00000304459:A232V	A	+	2	0	RGS12	3388511	1.000000	0.71417	0.923000	0.36655	0.346000	0.29079	7.443000	0.80521	2.247000	0.74100	0.609000	0.83330	GCG	.	.	none		0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3418713	C	T	3418713	3	4	41	1	0	0	0	0	1	0	0	0	13295	768	27	1	2585	1	RGS12	4	3418713	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	191294	3418713	187735563	60	24376										
LNX1	84708	hgsc.bcm.edu	37	chr4	54362377	54362377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttccaagctgctcctcggggCtacttttgttgagaatcaca	9	11	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:54362377C>A	ENST00000263925.7	-	6	1477	c.1163G>T	c.(1162-1164)aGc>aTc	p.S388I	LNX1_ENST00000306888.2_Missense_Mutation_p.S292I|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	388	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCTCGGGGCTACTTTTGTT	0.527																																					p.S388I		Atlas-SNP	.											.	LNX1	139	.	0			c.G1163T						PASS	.						102	99	100					4																	54362377		2203	4300	6503	SO:0001583	missense	84708	exon6			TCGGGGCTACTTT	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1163G>T	4.37:g.54362377C>A	ENSP00000263925:p.Ser388Ile	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	89	24	0.269663	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049759	0.36181	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.32272	1.46;1.46	5.29	3.51	0.40186	PDZ/DHR/GLGF (3);	0.321656	0.41712	D	0.000835	T	0.46776	0.1410	M	0.76170	2.325	0.46774	D	0.999198	D;P	0.53745	0.962;0.696	P;B	0.53146	0.719;0.355	T	0.48445	-0.9035	10	0.38643	T	0.18	.	15.5056	0.75739	0.0:0.7374:0.2626:0.0	.	388;292	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	I	292;226;388	ENSP00000302879:S292I;ENSP00000263925:S388I	ENSP00000263925:S388I	S	-	2	0	LNX1	54057134	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	0.964000	0.29306	0.759000	0.33084	0.561000	0.74099	AGC	.	.	none		0.527	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			A	54362377	C	A	54362377	3	1	41	1	0	0	0	0	1	0	0	0	8865	797	28	4	1047	4	LNX1	4	54362377	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	50943664	54362377	136791899	61	24377										
UGT2B7	7364	hgsc.bcm.edu	37	chr4	69962771	69962771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctcagcttctctcctggctAcacttttgaaaagcatagtg	7	11	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:69962771A>G	ENST00000508661.1	+	1	560	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	UGT2B7_ENST00000305231.7_Missense_Mutation_p.Y178C|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	178					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCTCCTGGCTACACTTTTGAA	0.408																																					p.Y178C		Atlas-SNP	.											.	UGT2B7	79	.	0			c.A533G						PASS	.						126	125	126					4																	69962771		2203	4298	6501	SO:0001583	missense	7364	exon1			CTGGCTACACTTT	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.533A>G	4.37:g.69962771A>G	ENSP00000427659:p.Tyr178Cys	Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	205	48	0.234146	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	A	9.009	0.981926	0.18812	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.423820	0.17969	U	0.155940	T	0.61413	0.2345	L	0.37466	1.105	0.09310	N	1	D;B	0.67145	0.996;0.11	D;B	0.70016	0.967;0.292	T	0.47509	-0.9112	9	.	.	.	.	8.5583	0.33494	1.0:0.0:0.0:0.0	.	178;178	E9PBP8;P16662	.;UD2B7_HUMAN	C	178	ENSP00000304811:Y178C;ENSP00000427659:Y178C	.	Y	+	2	0	UGT2B7	69997360	0.008000	0.16893	0.002000	0.10522	0.005000	0.04900	2.511000	0.45476	1.157000	0.42530	0.260000	0.18958	TAC	.	.	none		0.408	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		G	69962771	A	G	69962771	3	3	41	1	0	0	0	0	1	0	0	0	16959	391	14	2	535	2	UGT2B7	4	69962771	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	15600394	69962771	121191505	62	24378										
DSPP	1834	hgsc.bcm.edu	37	chr4	88536448	88536448	+	Silent	SNP	C	C	T													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gacagcagcaacagcagtgaCagcagtgatagcagtgacag					rs111205175		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D878D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																					p.D878D		Atlas-SNP	.											.	DSPP	174	.	0			c.C2634T						PASS	.						70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	82	14	0.170732	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	41	1	0	0	0	0	0	0	0	1	4782	477	17	2		2	DSPP	4	88536448	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	18573677	88536448	102617828	63	24379	503	4								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536451	88536451	+	Silent	SNP	C	C	T													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agcagcaacagcagtgacagCagtgatagcagtgacagcaa					rs111205176|rs149201255		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S879S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																					p.S879S		Atlas-SNP	.											DSPP,colon,carcinoma,0,1	DSPP	174	1	0			c.C2637T						PASS	.						71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834	exon5			TGACAGCAGTGAT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	77	15	0.194805	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	41	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536451	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3	88536451	102617825	64	24380	503	4								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536457	88536457	+	Silent	SNP	T	T	C													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aacagcagtgacagcagtgaTagcagtgacagcaacgaaag					rs141186173|rs111205177|rs199994008	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:88536457T>C	ENST00000282478.7	+	4	2676	c.2643T>C	c.(2641-2643)gaT>gaC	p.D881D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D881D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	881	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D881_S882insSSD(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgatagcagtgaca	0.498																																					p.D881D		Atlas-SNP	.											.	DSPP	174	.	1	Insertion - In frame(1)	ovary(1)	c.T2643C						PASS	.						73	87	82					4																	88536457		1618	2922	4540	SO:0001819	synonymous_variant	1834	exon5			CAGTGATAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2643T>C	4.37:g.88536457T>C		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	80	25	0.3125	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88536457	T	C	88536457	2	2	41	1	0	0	0	0	0	0	0	1	4782	1403	49	2		2	DSPP	4	88536457	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	6	88536457	102617819	65	24381	503	4								
DSPP	1834	hgsc.bcm.edu	37	chr4	88536460	88536460	+	Silent	SNP	C	C	T													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agcagtgacagcagtgatagCagtgacagcaacgaaagcag					rs199691318		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S882S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																					p.S882S		Atlas-SNP	.											.	DSPP	174	.	0			c.C2646T						PASS	.						73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834	exon5			TGATAGCAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	81	26	0.320988	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.	.	weak		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	41	1	0	0	0	0	0	0	0	1	4782	709	25	2		2	DSPP	4	88536460	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3	88536460	102617816	66	24382	503	4								
OTUD4	54726	hgsc.bcm.edu	37	chr4	146059393	146059393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaactgggcctaagaatggaTtgggtccaaaagatggctgg	15	6	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:146059393T>C	ENST00000447906.2	-	21	2721	c.2534A>G	c.(2533-2535)aAt>aGt	p.N845S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.N780S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	845					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAGAATGGATTGGGTCCAAA	0.463																																					p.N780S		Atlas-SNP	.											.	OTUD4	120	.	0			c.A2339G						PASS	.						64	60	61					4																	146059393		2203	4298	6501	SO:0001583	missense	54726	exon21			AATGGATTGGGTC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2534A>G	4.37:g.146059393T>C	ENSP00000395487:p.Asn845Ser	Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	140	45	0.321429	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	T	3.667	-0.068360	0.07228	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.30981	1.51;1.51	5.89	-0.53	0.11898	.	0.310609	0.31188	N	0.008087	T	0.15349	0.0370	N	0.17082	0.46	0.21064	N	0.999798	B;B	0.29378	0.243;0.157	B;B	0.26310	0.068;0.031	T	0.26018	-1.0115	10	0.17832	T	0.49	-11.1144	11.9038	0.52699	0.0:0.4566:0.0:0.5433	.	845;844	G3V0I6;Q01804	.;OTUD4_HUMAN	S	780;845	ENSP00000409279:N780S;ENSP00000395487:N845S	ENSP00000395487:N845S	N	-	2	0	OTUD4	146278843	0.782000	0.28689	0.680000	0.29994	0.501000	0.33797	0.126000	0.15769	-0.066000	0.12998	-0.400000	0.06385	AAT	.	.	none		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		C	146059393	T	C	146059393	3	2	41	1	0	0	0	0	1	0	0	0	11314	1493	52	2	814	2	OTUD4	4	146059393	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	57522933	146059393	45094883	67	24383										
LRAT	9227	hgsc.bcm.edu	37	chr4	155665953	155665953	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccccctacagcctgctgtggAacaactgcgagcacttcgtg	10	15	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:155665953A>C	ENST00000336356.3	+	2	728	c.475A>C	c.(475-477)Aac>Cac	p.N159H	LRAT_ENST00000507827.1_Missense_Mutation_p.N159H	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	159					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CCTGCTGTGGAACAACTGCGA	0.592																																					p.N159H		Atlas-SNP	.											.	LRAT	29	.	0			c.A475C						PASS	.						73	78	76					4																	155665953		2203	4300	6503	SO:0001583	missense	9227	exon2			CTGTGGAACAACT	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.475A>C	4.37:g.155665953A>C	ENSP00000337224:p.Asn159His	Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	35	9	0.257143	NM_004744	A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748540	0.69533	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.27402	1.67;1.67	5.5	4.31	0.51392	NC (1);	0.082456	0.85682	D	0.000000	T	0.51295	0.1666	M	0.91510	3.215	0.48975	D	0.999739	P	0.43578	0.811	P	0.49561	0.615	T	0.56589	-0.7954	10	0.42905	T	0.14	-23.6927	11.4728	0.50280	0.9293:0.0:0.0707:0.0	.	159	O95237	LRAT_HUMAN	H	159	ENSP00000426761:N159H;ENSP00000337224:N159H	ENSP00000337224:N159H	N	+	1	0	LRAT	155885403	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.228000	0.78079	0.925000	0.37094	-0.462000	0.05337	AAC	.	.	none		0.592	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		C	155665953	A	C	155665953	3	2	41	1	0	0	0	0	1	0	0	0	8930	246	9	5	477	5	LRAT	4	155665953	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	9606560	155665953	35488323	68	24384										
FRG1	2483	hgsc.bcm.edu	37	chr4	190883051	190883051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	taaaattcttaaaaaggctcGgaaagatggatttttgcatg	9	4	1	1	rs1803593		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAAGGCTCGGAAAGATGGA	0.328																																					p.R235Q		Atlas-SNP	.											FRG1,NS,carcinoid-endocrine_tumour,0,1	FRG1	76	1	0			c.G704A						scavenged	.						81	99	93					4																	190883051		2158	4213	6371	SO:0001583	missense	2483	exon8			AGGCTCGGAAAGA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln	Somatic	126	16	0.126984		WXS	Illumina HiSeq	Phase_I	143	17	0.118881	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG	G|1.000;|0.000	.	weak		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883051	G	A	190883051	3	1	41	1	0	0	0	0	1	0	0	0	6046	1116	39	1	734	1	FRG1	4	190883051	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	35217098	190883051	271225	69	24385										
GHR	2690	hgsc.bcm.edu	37	chr5	42689036	42689036	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccaagtgccgttcacctgagCgagagactttttcatgccac	9	13	2	2	rs121909358		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:42689036C>T	ENST00000230882.4	+	4	371	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Nonsense_Mutation_p.R39*	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	61					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCACCTGAGCGAGAGACTTT	0.448																																					p.R68X		Atlas-SNP	.											.	GHR	94	.	0			c.C202T	GRCh37	CM910179	GHR	M	rs121909358	PASS	.						275	254	261					5																	42689036		2203	4300	6503	SO:0001587	stop_gained	2690	exon4			CCTGAGCGAGAGA		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.181C>T	5.37:g.42689036C>T	ENSP00000230882:p.Arg61*	Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	134	31	0.231343	NM_001242399	Q9HCX2	Nonsense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	37	6.363108	0.97507	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	.	.	.	5.66	5.66	0.87406	.	0.207702	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.9137	15.027	0.71677	0.1429:0.8571:0.0:0.0	.	.	.	.	X	61;39;61	.	ENSP00000230882:R61X	R	+	1	2	GHR	42724793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.554000	0.36266	2.657000	0.90304	0.655000	0.94253	CGA	.	.	weak		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		T	42689036	C	T	42689036	4	4	41	1	0	0	0	0	0	1	0	0	6371	760	27	1	191	1	GHR	5	42689036	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		42689036	138226224	70	24386										
MSH3	4437	hgsc.bcm.edu	37	chr5	79950750	79950750	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcgcccccagcgcccccagcTcccgccttcccgccccagct	8	26	0	0	rs144629981|rs3045983|rs1047489	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:79950750T>G	ENST00000265081.6	+	1	284	c.204T>G	c.(202-204)gcT>gcG	p.A68A	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	68					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCCCCCAGCTCCCGCCTTCC	0.741								Mismatch excision repair (MMR)																													p.A68A	Melanoma(88;1010 1399 13793 26548 36275)	Atlas-SNP	.											.	MSH3	129	.	0			c.T204G						PASS	.						3	3	3					5																	79950750		1568	3264	4832	SO:0001819	synonymous_variant	4437	exon1			CCCAGCTCCCGCC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.204T>G	5.37:g.79950750T>G		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	16	16	1	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																			.	.	weak		0.741	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79950750	T	G	79950750	2	3	41	1	0	0	0	0	0	0	0	1	9871	1538	54	5		5	MSH3	5	79950750	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	37261714	79950750	100964510	71	24387										
WDR36	134430	hgsc.bcm.edu	37	chr5	110428002	110428002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	actttatgtgttgcactgagGgcagtctccggaaacgcgat	12	9	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:110428002G>T	ENST00000513710.2	+	1	20	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	WDR36_ENST00000506538.2_Missense_Mutation_p.G6C|CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_5'Flank			Q8NI36	WDR36_HUMAN	WD repeat domain 36	6					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTGCACTGAGGGCAGTCTCCG	0.592																																					p.G6C		Atlas-SNP	.											.	WDR36	111	.	0			c.G16T						PASS	.						80	85	84					5																	110428002		2202	4300	6502	SO:0001583	missense	134430	exon1			ACTGAGGGCAGTC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.16G>T	5.37:g.110428002G>T	ENSP00000424628:p.Gly6Cys	Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	83	12	0.144578	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890516	0.33348	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.66815	-0.23;-0.23	5.33	-0.223	0.13118	.	2.121900	0.01992	N	0.045560	T	0.44871	0.1314	N	0.08118	0	0.09310	N	0.999995	P	0.35527	0.507	B	0.30105	0.111	T	0.44757	-0.9307	10	0.87932	D	0	5.157	6.0246	0.19648	0.3214:0.128:0.5506:0.0	.	6	Q8NI36	WDR36_HUMAN	C	6	ENSP00000423067:G6C;ENSP00000424628:G6C	ENSP00000423067:G6C	G	+	1	0	WDR36	110455901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.161000	0.16481	-0.142000	0.11354	0.655000	0.94253	GGC	.	.	none		0.592	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		T	110428002	G	T	110428002	3	4	41	1	0	0	0	0	1	0	0	0	17287	1232	43	4	18	4	WDR36	5	110428002	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	30477252	110428002	70487258	72	24388										
KCNN2	3781	hgsc.bcm.edu	37	chr5	113698763	113698763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggaggaggcggcggcggtggCgggagcgggcacggcagcag	25	9	0	0	rs368298090	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:113698763C>T	ENST00000512097.3	+	2	1309	c.291C>T	c.(289-291)ggC>ggT	p.G97G	KCNN2_ENST00000264773.3_Silent_p.G97G			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	97	Poly-Gly.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	gcggcggtggcgggagcgggc	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		12844	0.0		0.0	False		,,,				2504	0.0031				p.G97G		Atlas-SNP	.											.	KCNN2	144	.	0			c.C291T						PASS	.	C		0,4384		0,0,2192	23	24	24		291	-2.4	1	5		24	1,8587		0,1,4293	no	coding-synonymous	KCNN2	NM_021614.2		0,1,6485	TT,TC,CC		0.0116,0.0,0.0077		97/580	113698763	1,12971	2192	4294	6486	SO:0001819	synonymous_variant	3781	exon1			CGGTGGCGGGAGC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.291C>T	5.37:g.113698763C>T		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	49	9	0.183673	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	CCDS4114.1																																																																																			.	.	weak		0.637	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		T	113698763	C	T	113698763	2	4	41	1	0	0	0	0	0	0	0	1	8079	755	27	1		1	KCNN2	5	113698763	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3270761	113698763	67216497	73	24389										
DND1	373863	hgsc.bcm.edu	37	chr5	140050894	140050894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggagtcactgtttaaccatgGtacctgcctcagccccagca	9	14	2	0	rs201638404		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140050894G>C	ENST00000542735.1	-	4	1089	c.1046C>G	c.(1045-1047)aCc>aGc	p.T349S	WDR55_ENST00000520764.1_3'UTR|WDR55_ENST00000358337.5_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	349					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAACCATGGTACCTGCCTC	0.602																																					p.T349S		Atlas-SNP	.											DND1,NS,carcinoma,-1,1	DND1	15	1	0			c.C1046G						scavenged	.						75	61	66					5																	140050894		1959	3964	5923	SO:0001583	missense	373863	exon4			ACCATGGTACCTG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.1046C>G	5.37:g.140050894G>C	ENSP00000445366:p.Thr349Ser	Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	162	2	0.0123457	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043394	0.19748	.	.	ENSG00000256453	ENST00000542735	T	0.30182	1.54	4.97	0.117	0.14652	.	1.006470	0.07994	N	0.987573	T	0.16769	0.0403	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	10	0.27082	T	0.32	0.0017	3.9136	0.09213	0.3271:0.0:0.5115:0.1614	.	349	Q8IYX4	DND1_HUMAN	S	349	ENSP00000445366:T349S	ENSP00000445366:T349S	T	-	2	0	DND1	140031078	0.002000	0.14202	0.000000	0.03702	0.312000	0.27988	0.583000	0.23849	0.101000	0.17610	0.551000	0.68910	ACC	G|0.979;C|0.021	0.021	strong		0.602	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		C	140050894	G	C	140050894	3	2	41	1	0	0	0	0	1	0	0	0	4666	1261	44	4	19	4	DND1	5	140050894	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	26352131	140050894	40864366	74	24390										
PCDHA2	56146	hgsc.bcm.edu	37	chr5	140175767	140175767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	accttcaagaattactactcGttggtgctggacagcgccct	9	12	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140175767G>A	ENST00000526136.1	+	1	1218	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S	PCDHA2_ENST00000520672.2_Silent_p.S406S|PCDHA2_ENST00000378132.1_Silent_p.S406S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.622																																					p.S406S		Atlas-SNP	.											.	PCDHA2	404	.	0			c.G1218A						PASS	.						157	139	145					5																	140175767		2203	4300	6503	SO:0001819	synonymous_variant	56146	exon1			CTACTCGTTGGTG	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1218G>A	5.37:g.140175767G>A		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	81	20	0.246914	NM_031495	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																			.	.	none		0.622	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140175767	G	A	140175767	2	1	41	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA2	5	140175767	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	124873	140175767	40739493	75	24391										
PCDHA9	9752	hgsc.bcm.edu	37	chr5	140229661	140229661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagccgttggaccacgaggaGctggagctgctacagttcca	13	12	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140229661G>C	ENST00000532602.1	+	1	2614	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E527D|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGAGGAGCTGGAGCTGC	0.677																																					p.E527D	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHA9	373	.	0			c.G1581C						PASS	.						61	69	66					5																	140229661		2194	4269	6463	SO:0001583	missense	9752	exon1			CGAGGAGCTGGAG	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1581G>C	5.37:g.140229661G>C	ENSP00000436042:p.Glu527Asp	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	74	24	0.324324	NM_031857	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511932	0.64522	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	3.56	3.56	0.40772	Cadherin (5);Cadherin-like (1);	0.265650	0.18860	U	0.129149	T	0.62319	0.2418	L	0.46567	1.45	0.21105	N	0.99979	B;D	0.71674	0.383;0.998	B;D	0.77557	0.151;0.99	T	0.50566	-0.8813	10	0.87932	D	0	.	9.3017	0.37849	0.1035:0.0:0.8965:0.0	.	527;527	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	D	527	ENSP00000436042:E527D;ENSP00000367362:E527D	ENSP00000367362:E527D	E	+	3	2	PCDHA9	140209845	0.000000	0.05858	1.000000	0.80357	0.957000	0.61999	0.283000	0.18846	1.973000	0.57446	0.306000	0.20318	GAG	.	.	none		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		C	140229661	G	C	140229661	3	2	41	1	0	0	0	0	1	0	0	0	11531	962	34	4	1583	4	PCDHA9	5	140229661	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	53894	140229661	40685599	76	24392										
PCDHA11	56138	hgsc.bcm.edu	37	chr5	140251070	140251070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	caggagccagggtcaaatcaCcccggacaggtgagttttct	12	11	3	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140251070C>T	ENST00000398640.2	+	1	2382	c.2382C>T	c.(2380-2382)caC>caT	p.H794H	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	794	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCAAATCACCCCGGACAGG	0.453																																					p.H794H		Atlas-SNP	.											.	PCDHA11	209	.	0			c.C2382T						PASS	.						14	17	16					5																	140251070		2169	4291	6460	SO:0001819	synonymous_variant	56138	exon1			AAATCACCCCGGA	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2382C>T	5.37:g.140251070C>T		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	247	62	0.251012	NM_018902	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																			.	.	none		0.453	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140251070	C	T	140251070	2	4	41	1	0	0	0	0	0	0	0	1	11521	506	18	2		2	PCDHA11	5	140251070	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	21409	140251070	40664190	77	24393										
PCDHGA7	56108	hgsc.bcm.edu	37	chr5	140764414	140764414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggtggccgtccaggaccacGgtcagcctcctctgtcagcc	12	16	3	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:140764414G>A	ENST00000518325.1	+	1	1948	c.1948G>A	c.(1948-1950)Ggt>Agt	p.G650S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGACCACGGTCAGCCTCC	0.672																																					p.G650S		Atlas-SNP	.											PCDHGA7,NS,carcinoma,0,1	PCDHGA7	130	1	0			c.G1948A						PASS	.						35	42	40					5																	140764414		2198	4298	6496	SO:0001583	missense	56108	exon1			GACCACGGTCAGC	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1948G>A	5.37:g.140764414G>A	ENSP00000430024:p.Gly650Ser	Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	81	23	0.283951	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.362272	0.82353	.	.	ENSG00000253537	ENST00000518325	T	0.64260	-0.09	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85932	0.5812	H	0.96301	3.8	0.42286	D	0.992115	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.90975	0.4823	9	0.87932	D	0	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	650;650	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	650	ENSP00000430024:G650S	ENSP00000430024:G650S	G	+	1	0	PCDHGA7	140744598	1.000000	0.71417	0.726000	0.30738	0.831000	0.47069	7.575000	0.82447	2.413000	0.81919	0.655000	0.94253	GGT	.	.	none		0.672	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		A	140764414	G	A	140764414	3	1	41	1	0	0	0	0	1	0	0	0	11559	1116	39	1	1950	1	PCDHGA7	5	140764414	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	513344	140764414	40150846	78	24394										
GABRA1	2554	hgsc.bcm.edu	37	chr5	161317976	161317976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctttgttattcaaacataccTgccatgcataatgacagtga	6	9	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:161317976T>A	ENST00000428797.2	+	9	1131	c.776T>A	c.(775-777)cTg>cAg	p.L259Q	GABRA1_ENST00000437025.2_Missense_Mutation_p.L259Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.L259Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.L259Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.L259Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.L259Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	259					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAACATACCTGCCATGCATA	0.398																																					p.L259Q		Atlas-SNP	.											.	GABRA1	132	.	0			c.T776A						PASS	.						139	132	134					5																	161317976		2203	4300	6503	SO:0001583	missense	2554	exon9			CATACCTGCCATG		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.776T>A	5.37:g.161317976T>A	ENSP00000393097:p.Leu259Gln	Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	101	18	0.178218	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341635	0.81911	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000002	D	0.92987	0.7768	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93811	0.7110	10	0.87932	D	0	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	259	P14867	GBRA1_HUMAN	Q	259	ENSP00000023897:L259Q;ENSP00000393097:L259Q;ENSP00000377517:L259Q;ENSP00000415441:L259Q;ENSP00000408041:L259Q;ENSP00000414232:L259Q	ENSP00000023897:L259Q	L	+	2	0	GABRA1	161250554	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	7.903000	0.87398	2.105000	0.64084	0.528000	0.53228	CTG	.	.	none		0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161317976	T	A	161317976	3	1	41	1	0	0	0	0	1	0	0	0	6160	1580	55	5	802	5	GABRA1	5	161317976	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	20553562	161317976	19597284	79	24395										
FAM153B	202134	hgsc.bcm.edu	37	chr5	175528119	175528119	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggaagccacagaagttcacaTggtaaagtcgtcttctttcc	9	10	3	1	rs199710353		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:175528119T>C	ENST00000253490.4	+	11	689	c.632T>C	c.(631-633)aTg>aCg	p.M211T	FAM153B_ENST00000515817.1_Splice_Site_p.M134T|FAM153B_ENST00000510151.1_Splice_Site_p.M134T|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	211								p.M211T(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAGTTCACATGGTAAAGTCG	0.433													N|||	1	0.000199681	0.0	0.0014	5008	,	,		30376	0.0		0.0	False		,,,				2504	0.0				p.M134T		Atlas-SNP	.											FAM153B,NS,carcinoma,0,4	FAM153B	28	4	4	Substitution - Missense(4)	endometrium(3)|kidney(1)	c.T401C						scavenged	.						258	307	289					5																	175528119		1510	2708	4218	SO:0001630	splice_region_variant	202134	exon10			TTCACATGGTAAA	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.633+1T>C	5.37:g.175528119T>C		Somatic	461	2	0.00433839		WXS	Illumina HiSeq	Phase_I	463	8	0.0172786	NM_001265615	A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	T	0.008	-1.861446	0.00552	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.917	-0.575	0.11734	.	.	.	.	.	T	0.20292	0.0488	N	0.24115	0.695	0.09310	N	1	B	0.33528	0.416	B	0.35470	0.203	T	0.18618	-1.0331	8	0.35671	T	0.21	.	2.9058	0.05720	0.5811:0.0:0.0:0.4189	.	211	P0C7A2	F153B_HUMAN	T	134;211	.	ENSP00000253490:M211T	M	+	2	0	FAM153B	175460725	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	-0.418000	0.07080	-0.147000	0.11254	-0.935000	0.02700	ATG	T|0.500;C|0.500	0.500	weak		0.433	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529	Missense_Mutation	C	175528119	T	C	175528119	5	2	41	1	0	0	0	0	0	0	1	0	5461	1478	51	2	674	2	FAM153B	5	175528119	Splice_Site	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	14210143	175528119	5387141	80	24396										
ADAMTS2	9509	hgsc.bcm.edu	37	chr5	178549748	178549748	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagagcactggccgctcctgGgtgccgttgccacaggttac	13	14	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr5:178549748G>T	ENST00000251582.7	-	20	3086	c.2985C>A	c.(2983-2985)acC>acA	p.T995T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	995	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCGCTCCTGGGTGCCGTTGC	0.682																																					p.T995T		Atlas-SNP	.											.	ADAMTS2	190	.	0			c.C2985A						PASS	.						17	18	18					5																	178549748		2147	4234	6381	SO:0001819	synonymous_variant	9509	exon20			CTCCTGGGTGCCG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2985C>A	5.37:g.178549748G>T		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	79	17	0.21519	NM_014244		Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																			.	.	none		0.682	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178549748	G	T	178549748	2	4	41	1	0	0	0	0	0	0	0	1	265	1219	43	4		4	ADAMTS2	5	178549748	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	3021629	178549748	2365512	81	24397										
BMP6	654	hgsc.bcm.edu	37	chr6	7727271	7727271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgcgggcccccgccgctgcGgccgcccttgcccgctgccg	14	22	0	0	rs111588693	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:7727271G>A	ENST00000283147.6	+	1	242	c.83G>A	c.(82-84)cGg>cAg	p.R28Q		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	28					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ccgccgctgcggccgcccttg	0.841													G|||	1702	0.339856	0.2035	0.317	5008	,	,		4262	0.2371		0.4523	False		,,,				2504	0.5307				p.R28Q		Atlas-SNP	.											BMP6,brain,glioma,0,5	BMP6	67	5	0			c.G83A						PASS	.						1	1	1					6																	7727271		47	142	189	SO:0001583	missense	654	exon1			CGCTGCGGCCGCC	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.83G>A	6.37:g.7727271G>A	ENSP00000283147:p.Arg28Gln	Somatic	1	0	0		WXS	Illumina HiSeq	Phase_I	7	5	0.714286	NM_001718	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	739	0.3383699633699634	137	0.2784552845528455	124	0.3425414364640884	126	0.2202797202797203	352	0.46437994722955145	G	9.389	1.074989	0.20227	.	.	ENSG00000153162	ENST00000283147	T	0.73363	-0.74	3.1	-1.66	0.08265	.	0.611918	0.14710	N	0.303010	T	0.25344	0.0616	N	0.08118	0	0.53005	P	3.2000000000032E-5	B	0.17268	0.021	B	0.04013	0.001	T	0.03212	-1.1060	9	0.27785	T	0.31	.	5.1365	0.14937	0.0:0.336:0.2564:0.4076	.	28	P22004	BMP6_HUMAN	Q	28	ENSP00000283147:R28Q	ENSP00000283147:R28Q	R	+	2	0	BMP6	7672270	0.009000	0.17119	0.117000	0.21633	0.490000	0.33462	0.110000	0.15437	-0.043000	0.13513	0.462000	0.41574	CGG	G|0.662;A|0.338	0.338	strong		0.841	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		A	7727271	G	A	7727271	3	1	41	1	0	0	0	0	1	0	0	0	1464	1116	39	1	85	1	BMP6	6	7727271	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		7727271	163387796	82	24398										
HIST1H1C	3006	hgsc.bcm.edu	37	chr6	26056471	26056471	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcggcagccaacgcttttttCagagcagccagagaaactcc	10	13	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26056471C>G	ENST00000343677.2	-	1	228	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	62	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACGCTTTTTTCAGAGCAGCCA	0.567																																					p.L62L		Atlas-SNP	.											.	HIST1H1C	80	.	0			c.G186C						PASS	.						81	90	87					6																	26056471		2203	4300	6503	SO:0001819	synonymous_variant	3006	exon1			TTTTTTCAGAGCA	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.186G>C	6.37:g.26056471C>G		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	119	36	0.302521	NM_005319	A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																			.	.	none		0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		G	26056471	C	G	26056471	2	3	41	1	0	0	0	0	0	0	0	1	7124	813	29	4		4	HIST1H1C	6	26056471	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	18329200	26056471	145058596	83	24399										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26156985	26156985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccaagcctaaggctaaaaagGcaggcgcggccaaggccaag	13	12	0	0	rs199659170	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26156985G>C	ENST00000304218.3	+	1	427	c.367G>C	c.(367-369)Gca>Cca	p.A123P	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	123					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCTAAAAAGGCAGGCGCGGC	0.637																																					p.A123P		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.G367C						PASS	.						20	27	25					6																	26156985		2203	4300	6503	SO:0001583	missense	3008	exon1			AAAAAGGCAGGCG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.367G>C	6.37:g.26156985G>C	ENSP00000307705:p.Ala123Pro	Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	88	24	0.272727	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	4.950	0.176497	0.09443	.	.	ENSG00000168298	ENST00000304218	T	0.15487	2.42	5.51	2.52	0.30459	.	0.795350	0.11485	N	0.559313	T	0.02767	0.0083	N	0.19112	0.55	0.31036	N	0.71687	B	0.02656	0.0	B	0.01281	0.0	T	0.40757	-0.9546	10	0.33141	T	0.24	-0.0758	1.85	0.03167	0.1645:0.1346:0.4251:0.2758	.	123	P10412	H14_HUMAN	P	123	ENSP00000307705:A123P	ENSP00000307705:A123P	A	+	1	0	HIST1H1E	26264964	0.000000	0.05858	0.840000	0.33206	0.022000	0.10575	-0.096000	0.11059	0.756000	0.33013	0.561000	0.74099	GCA	G|1.000;A|0.000	.	alt		0.637	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		C	26156985	G	C	26156985	3	2	41	1	0	0	0	0	1	0	0	0	7126	1203	42	4	369	4	HIST1H1E	6	26156985	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	100514	26156985	144958082	84	24400										
HIST1H1E	3008	hgsc.bcm.edu	37	chr6	26157108	26157108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggcgaagaagccggctgcaGctgctggagccaaaaaagcg	15	10	0	1	rs201935674	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26157108G>A	ENST00000304218.3	+	1	550	c.490G>A	c.(490-492)Gct>Act	p.A164T	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	164					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A164P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCGGCTGCAGCTGCTGGAGC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		12111	0.0		0.002	False		,,,				2504	0.0				p.A164T		Atlas-SNP	.											HIST1H1E,NS,lymphoid_neoplasm,-1,3	HIST1H1E	69	3	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G490A						PASS	.						15	21	19					6																	26157108		2192	4287	6479	SO:0001583	missense	3008	exon1			GCTGCAGCTGCTG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.490G>A	6.37:g.26157108G>A	ENSP00000307705:p.Ala164Thr	Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	63	18	0.285714	NM_005321	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	13.33	2.206374	0.39003	.	.	ENSG00000168298	ENST00000304218	T	0.04862	3.54	5.49	5.49	0.81192	.	0.133164	0.49916	D	0.000129	T	0.04543	0.0124	L	0.37697	1.125	0.49798	D	0.99982	P	0.48911	0.917	P	0.51297	0.665	T	0.11324	-1.0592	10	0.02654	T	1	-2.5382	18.7205	0.91691	0.0:0.0:1.0:0.0	.	164	P10412	H14_HUMAN	T	164	ENSP00000307705:A164T	ENSP00000307705:A164T	A	+	1	0	HIST1H1E	26265087	0.970000	0.33590	0.822000	0.32727	0.970000	0.65996	2.285000	0.43487	2.723000	0.93209	0.655000	0.94253	GCT	G|0.999;A|0.001	0.001	strong		0.597	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26157108	G	A	26157108	3	1	41	1	0	0	0	0	1	0	0	0	7126	971	34	2	492	2	HIST1H1E	6	26157108	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	123	26157108	144957959	85	24401										
HIST1H1D	3007	hgsc.bcm.edu	37	chr6	26234976	26234976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gccgcaagcgctttcttaagCgcggccagagaaacgccgct	12	14	1	1	rs150400552		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:26234976C>T	ENST00000244534.5	-	1	240	c.186G>A	c.(184-186)gcG>gcA	p.A62A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	62	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTCTTAAGCGCGGCCAGAG	0.547																																					p.A62A		Atlas-SNP	.											.	HIST1H1D	40	.	0			c.G186A						PASS	.						82	89	87					6																	26234976		2203	4300	6503	SO:0001819	synonymous_variant	3007	exon1			CTTAAGCGCGGCC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.186G>A	6.37:g.26234976C>T		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	179	53	0.296089	NM_005320	B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	CCDS4597.1																																																																																			C|1.000;A|0.000	.	alt		0.547	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		T	26234976	C	T	26234976	2	4	41	1	0	0	0	0	0	0	0	1	7125	755	27	1		1	HIST1H1D	6	26234976	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	77868	26234976	144880091	86	24402										
HIST1H2AG	8969	hgsc.bcm.edu	37	chr6	27101120	27101120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctccaactggccatccgcaaCgacgaggagctcaacaagct	9	15	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27101120C>T	ENST00000359193.2	+	1	289	c.270C>T	c.(268-270)aaC>aaT	p.N90N	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	90						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCATCCGCAACGACGAGGAGC	0.612																																					p.N90N		Atlas-SNP	.											.	HIST1H2AG	37	.	0			c.C270T						PASS	.						115	110	111					6																	27101120		2203	4300	6503	SO:0001819	synonymous_variant	8969	exon1			CCGCAACGACGAG	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.270C>T	6.37:g.27101120C>T		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	156	36	0.230769	NM_021064	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	CCDS4619.1																																																																																			.	.	none		0.612	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		T	27101120	C	T	27101120	2	4	41	1	0	0	0	0	0	0	0	1	7133	535	19	1		1	HIST1H2AG	6	27101120	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	866144	27101120	144013947	87	24403										
HIST1H2BK	85236	hgsc.bcm.edu	37	chr6	27114200	27114200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acgcttacttggcaagtttaCttagcgctggtgtacttggt	11	8	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27114200C>T	ENST00000356950.1	-	1	377	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Silent_p.K126K			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	126					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGCAAGTTTACTTAGCGCTGG	0.542																																					p.K126K		Atlas-SNP	.											.	HIST1H2BK	68	.	0			c.G378A						PASS	.						82	89	87					6																	27114200		2202	4299	6501	SO:0001819	synonymous_variant	85236	exon1			AGTTTACTTAGCG	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.378G>A	6.37:g.27114200C>T		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	137	49	0.357664	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.	.	none		0.542	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		T	27114200	C	T	27114200	2	4	41	1	0	0	0	0	0	0	0	1	7150	564	20	2		2	HIST1H2BK	6	27114200	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	13080	27114200	144000867	88	24404										
HIST1H1B	3009	hgsc.bcm.edu	37	chr6	27834916	27834916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggcccccgcgggcttcttaGctttagcggcgcctgccttc	12	16	1	0	rs199758872		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:27834916G>A	ENST00000331442.3	-	1	443	c.392C>T	c.(391-393)gCt>gTt	p.A131V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	131					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGGCTTCTTAGCTTTAGCGGC	0.607																																					p.A131V		Atlas-SNP	.											.	HIST1H1B	54	.	0			c.C392T						PASS	.						81	96	91					6																	27834916		2203	4299	6502	SO:0001583	missense	3009	exon1			TTCTTAGCTTTAG	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.392C>T	6.37:g.27834916G>A	ENSP00000330074:p.Ala131Val	Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	136	40	0.294118	NM_005322	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.95	2.687908	0.48097	.	.	ENSG00000184357	ENST00000331442	T	0.16897	2.31	5.19	5.19	0.71726	.	0.194604	0.42548	D	0.000695	T	0.06096	0.0158	N	0.08118	0	0.50313	D	0.999862	B	0.23316	0.083	B	0.32090	0.14	T	0.32955	-0.9887	10	0.34782	T	0.22	-2.5827	18.087	0.89461	0.0:0.0:1.0:0.0	.	131	P16401	H15_HUMAN	V	131	ENSP00000330074:A131V	ENSP00000330074:A131V	A	-	2	0	HIST1H1B	27942895	0.843000	0.29541	0.031000	0.17742	0.597000	0.36814	4.678000	0.61641	2.600000	0.87896	0.655000	0.94253	GCT	G|1.000;A|0.000	0.000	strong		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		A	27834916	G	A	27834916	3	1	41	1	0	0	0	0	1	0	0	0	7123	971	34	2	292	2	HIST1H1B	6	27834916	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	720716	27834916	143280151	89	24405										
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911320	29911320	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggagacgctgcagcgcacgGgtaccaggggccacggggcg	19	12	0	1	rs62687162	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:29911320G>A	ENST00000396634.1	+	5	960	c.619G>A	c.(619-621)Gac>Aac	p.D207N	HLA-A_ENST00000376809.5_Splice_Site_p.D207N|HLA-A_ENST00000376802.2_Splice_Site_p.D207N|HLA-A_ENST00000376806.5_Splice_Site_p.D207N			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	207	Alpha-3.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCAGCGCACGGGTACCAGGGG	0.637									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.D207N		Atlas-SNP	.											.	HLA-A	89	.	0			c.G619A						PASS	.						46	41	43					6																	29911320		1505	2707	4212	SO:0001630	splice_region_variant	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	CGCACGGGTACCA	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.619+1G>A	6.37:g.29911320G>A		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.212672	0.58452	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00675	5.89;5.88;5.89;5.9	3.78	3.78	0.43462	MHC class I-like antigen recognition (4);	0.161083	0.28006	U	0.016978	T	0.03136	0.0092	M	0.90650	3.135	0.37209	D	0.904716	P;D;D;D;D;D;D	0.64830	0.861;0.991;0.994;0.993;0.994;0.979;0.993	P;D;D;D;D;D;D	0.85130	0.697;0.997;0.973;0.986;0.973;0.986;0.986	T	0.08229	-1.0732	10	0.87932	D	0	.	13.5444	0.61695	0.0:0.0:1.0:0.0	rs62687162	86;207;207;207;207;207;207	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	N	207	ENSP00000379873:D207N;ENSP00000366002:D207N;ENSP00000366005:D207N;ENSP00000365998:D207N	ENSP00000365998:D207N	D	+	1	0	HLA-A	30019299	1.000000	0.71417	0.983000	0.44433	0.330000	0.28571	6.398000	0.73244	2.106000	0.64143	0.485000	0.47835	GAC	G|0.996;T|0.004	.	strong		0.637	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Missense_Mutation	A	29911320	G	A	29911320	5	1	41	1	0	0	0	0	0	0	1	0	7195	1246	43	2	629	2	HLA-A	6	29911320	Splice_Site	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	2076404	29911320	141203747	90	24406										
HLA-C	3107	hgsc.bcm.edu	37	chr6	31238009	31238009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagctcagggtgaggggctcTtgcagcccctcgtgctgcat	14	13	2	1	rs1131014	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497				p.Q291Q		Atlas-SNP	.											HLA-C_ENST00000383329,colon,carcinoma,0,2	HLA-C	92	2	0			c.A873G						scavenged	.						23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107	exon4			GGGCTCTTGCAGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.873A>G	6.37:g.31238009T>C		Somatic	67	14	0.208955		WXS	Illumina HiSeq	Phase_I	82	21	0.256098	NM_002117	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG	T|0.651;C|0.349	0.349	strong		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	41	1	0	0	0	0	0	0	0	1	7197	1606	56	3		3	HLA-C	6	31238009	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	1326689	31238009	139877058	91	24407										
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324576	31324576	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccaatactccggcccctcctGctctatccacggcgcccgcg	8	21	1	0	rs151341159|rs281864598|rs41553618		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:31324576G>A	ENST00000412585.2	-	2	260	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCCCTCCTGCTCTATCCAC	0.637									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.Q78X		Atlas-SNP	.											.	HLA-B	54	.	0			c.C232T						PASS	.						49	48	48					6																	31324576		2149	4170	6319	SO:0001587	stop_gained	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CCTCCTGCTCTAT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.232C>T	6.37:g.31324576G>A	ENSP00000399168:p.Gln78*	Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	75	18	0.24	NM_005514	Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	14.19	2.460322	0.43736	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.16	3.16	0.36331	.	1.312210	0.06463	U	0.729762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	.	.	.	X	78;89	.	ENSP00000399168:Q78X	Q	-	1	0	HLA-B	31432555	0.000000	0.05858	0.581000	0.28614	0.013000	0.08279	-0.147000	0.10234	1.804000	0.52760	0.442000	0.29010	CAG	.	.	weak		0.637	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324576	G	A	31324576	4	1	41	1	0	0	0	0	0	1	0	0	7196	1328	46	2	880	2	HLA-B	6	31324576	Nonsense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	86567	31324576	139790491	92	24408										
HLA-DRB5	3127	hgsc.bcm.edu	37	chr6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgctgcctggatagaaaccaTtcacagagcagaccaggagg	12	10	1	3	rs114293611	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914				p.N149S		Atlas-SNP	.											HLA-DRB5,NS,lymphoid_neoplasm,0,1	HLA-DRB5	31	1	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A446G						scavenged	.	T	SER/ASN	1237,2619		353,531,1044	42	53	49		446	-9.4	0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127	exon3			AAACCATTCACAG		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser	Somatic	11	11	1		WXS	Illumina HiSeq	Phase_I	16	16	1	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT	T|0.525;C|0.475	0.475	strong		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487353	T	C	32487353	3	2	41	1	0	0	0	0	1	0	0	0	7209	1493	52	2	370	2	HLA-DRB5	6	32487353	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	1162777	32487353	138627714	93	24409										
HLA-DRB1	3123	hgsc.bcm.edu	37	chr6	32551949	32551949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctgcagtaggtgtccaccgCggcccgcgcctgctccagga	13	16	1	0	rs16822805	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:32551949C>G	ENST00000360004.5	-	2	412	c.307G>C	c.(307-309)Gcg>Ccg	p.A103P		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	103	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTGTCCACCGCGGCCCGCGCC	0.682										Multiple Myeloma(14;0.17)																											p.A103P		Atlas-SNP	.											HLA-DRB1,brain,glioma,+1,2	HLA-DRB1	41	2	0			c.G307C						scavenged	.						26	27	27					6																	32551949		2139	4247	6386	SO:0001583	missense	3123	exon2			CCACCGCGGCCCG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.307G>C	6.37:g.32551949C>G	ENSP00000353099:p.Ala103Pro	Somatic	9	7	0.777778		WXS	Illumina HiSeq	Phase_I	6	4	0.666667	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.344005	0.24339	.	.	ENSG00000196126	ENST00000360004	T	0.00289	8.28	3.52	0.631	0.17699	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.651270	0.02020	N	0.047686	T	0.00039	0.0001	N	0.16743	0.435	0.09310	N	1	B	0.29115	0.233	B	0.34824	0.19	T	0.22591	-1.0212	10	0.52906	T	0.07	.	3.4895	0.07632	0.1726:0.559:0.1675:0.1009	rs16822805;rs17878887;rs28993506;rs36102664	103	P01911	2B1F_HUMAN	P	103	ENSP00000353099:A103P	ENSP00000353099:A103P	A	-	1	0	HLA-DRB1	32659927	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-6.420000	0.00066	0.007000	0.14760	-1.585000	0.00851	GCG	G|0.114;C|0.886	0.114	strong		0.682	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32551949	C	G	32551949	3	3	41	1	0	0	0	0	1	0	0	0	7208	768	27	4	513	4	HLA-DRB1	6	32551949	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	64596	32551949	138563118	94	24410										
PIM1	5292	hgsc.bcm.edu	37	chr6	37138372	37138372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgctcttgtccaaaatcaaCtcgcttgcccacctgcgcgc	7	16	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:37138372C>T	ENST00000373509.5	+	1	394	c.21C>T	c.(19-21)aaC>aaT	p.N7N		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	98					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CCAAAATCAACTCGCTTGCCC	0.721			T	BCL6	NHL																																p.N98N		Atlas-SNP	.		Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	PIM1	71	.	0			c.C294T						PASS	.						31	31	31					6																	37138372		2202	4298	6500	SO:0001819	synonymous_variant	5292	exon1			AATCAACTCGCTT		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.21C>T	6.37:g.37138372C>T		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	44	10	0.227273	NM_001243186	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																			.	.	none		0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			T	37138372	C	T	37138372	2	4	41	1	0	0	0	0	0	0	0	1	11927	564	20	2		2	PIM1	6	37138372	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4586423	37138372	133976695	95	24411										
C6orf138	442213	hgsc.bcm.edu	37	chr6	47976501	47976501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggcccaggaagggcttactgCgcaagcagtccttcatggag	14	11	1	0	rs143420847	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:47976501C>T	ENST00000339488.4	-	2	809	c.776G>A	c.(775-777)cGc>cAc	p.R259H	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R242H	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	259	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGGCTTACTGCGCAAGCAGTC	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18423	0.0		0.001	False		,,,				2504	0.0				p.R259H		Atlas-SNP	.											.	.	.	.	0			c.G776A						PASS	.	C	HIS/ARG,HIS/ARG	1,4045		0,1,2022	58	59	59		776,776	6.2	1	6	dbSNP_134	59	0,8406		0,0,4203	no	missense,missense	C6orf138	NM_001013732.3,NM_207499.2	29,29	0,1,6225	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging,probably-damaging	259/847,259/312	47976501	1,12451	2023	4203	6226	SO:0001583	missense	442213	exon2			TTACTGCGCAAGC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.776G>A	6.37:g.47976501C>T	ENSP00000341914:p.Arg259His	Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	116	34	0.293103	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.8	5.039983	0.93630	2.47E-4	0.0	ENSG00000244694	ENST00000339488;ENST00000543600	D;D	0.86230	-2.09;-2.09	6.16	6.16	0.99307	Sterol-sensing domain (1);	0.049562	0.85682	D	0.000000	D	0.93051	0.7788	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91320	0.5081	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	259;242	Q6ZW05;B0QZ29	CF138_HUMAN;.	H	259;242	ENSP00000341914:R259H;ENSP00000439864:R242H	ENSP00000341914:R259H	R	-	2	0	C6orf138	48084460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGC	C|1.000;T|0.000	0.000	strong		0.557	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	47976501	C	T	47976501	3	4	41	1	0	0	0	0	1	0	0	0	2332	768	27	1	1772	1	C6orf138	6	47976501	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	10838129	47976501	123138566	96	24412										
EFHC1	114327	hgsc.bcm.edu	37	chr6	52288818	52288818	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gttcgacgtccaacagttggGataggcggagaccggctcca	14	11	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:52288818G>C	ENST00000371068.5	+	2	241	c.138G>C	c.(136-138)ggG>ggC	p.G46G	EFHC1_ENST00000538167.1_Silent_p.G27G|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	46						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAACAGTTGGGATAGGCGGAG	0.498																																					p.G46G		Atlas-SNP	.											EFHC1,right_lower_lobe,carcinoma,0,1	EFHC1	68	1	0			c.G138C						PASS	.						99	92	94					6																	52288818		2203	4300	6503	SO:0001819	synonymous_variant	114327	exon2			AGTTGGGATAGGC	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.138G>C	6.37:g.52288818G>C		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	58	13	0.224138	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	CCDS4942.1																																																																																			.	.	none		0.498	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		C	52288818	G	C	52288818	2	2	41	1	0	0	0	0	0	0	0	1	4946	1161	41	4		4	EFHC1	6	52288818	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4312317	52288818	118826249	97	24413										
DST	667	hgsc.bcm.edu	37	chr6	56483209	56483209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atctggtttgaaggtacagtCtttggctgtgctcttttttt	10	6	3	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:56483209C>T	ENST00000370765.6	-	23	5730	c.5623G>A	c.(5623-5625)Gac>Aac	p.D1875N	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGGTACAGTCTTTGGCTGTG	0.438																																					p.D1875N		Atlas-SNP	.											.	DST	1427	.	0			c.G5623A						PASS	.						71	72	71					6																	56483209		2203	4300	6503	SO:0001583	missense	667	exon23			TACAGTCTTTGGC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5623G>A	6.37:g.56483209C>T	ENSP00000359801:p.Asp1875Asn	Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	155	35	0.225806	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147806	0.37923	.	.	ENSG00000151914	ENST00000370765	T	0.34667	1.35	4.87	3.09	0.35607	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.22835	N	0.998678	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	7	0.52906	T	0.07	.	7.8725	0.29573	0.0:0.7476:0.0:0.2524	.	1875	Q03001-3	.	N	1875	ENSP00000359801:D1875N	ENSP00000359801:D1875N	D	-	1	0	DST	56591168	0.918000	0.31147	0.006000	0.13384	0.844000	0.47949	0.808000	0.27154	0.583000	0.29574	0.650000	0.86243	GAC	.	.	none		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56483209	C	T	56483209	3	4	41	1	0	0	0	0	1	0	0	0	4783	913	32	2	14780	2	DST	6	56483209	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4194391	56483209	114631858	98	24414										
KHDRBS2	202559	hgsc.bcm.edu	37	chr6	62887168	62887168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgatgacatcaagatacttCttttcttcgtcttccttttt	4	10	4	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:62887168C>A	ENST00000281156.4	-	2	419	c.141G>T	c.(139-141)aaG>aaT	p.K47N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.K47N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAAGATACTTCTTTTCTTCGT	0.338																																					p.K47N		Atlas-SNP	.											KHDRBS2,NS,carcinoma,0,1	KHDRBS2	103	1	1	Substitution - Missense(1)	endometrium(1)	c.G141T						PASS	.						130	119	123					6																	62887168		2200	4299	6499	SO:0001583	missense	202559	exon2			ATACTTCTTTTCT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.141G>T	6.37:g.62887168C>A	ENSP00000281156:p.Lys47Asn	Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	83	31	0.373494	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364326	0.24684	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.15952	2.38	5.25	4.38	0.52667	.	0.265109	0.42172	D	0.000744	T	0.06781	0.0173	L	0.51422	1.61	0.58432	D	0.999994	P	0.36683	0.565	B	0.33454	0.164	T	0.15636	-1.0430	10	0.19147	T	0.46	-3.2222	12.7929	0.57545	0.0:0.9205:0.0:0.0794	.	47	Q5VWX1	KHDR2_HUMAN	N	47	ENSP00000281156:K47N	ENSP00000281156:K47N	K	-	3	2	KHDRBS2	62945127	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.714000	0.54889	1.211000	0.43351	0.460000	0.39030	AAG	.	.	none		0.338	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62887168	C	A	62887168	3	1	41	1	0	0	0	0	1	0	0	0	8147	912	32	4	940	4	KHDRBS2	6	62887168	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	6403959	62887168	108227899	99	24415										
MDN1	23195	hgsc.bcm.edu	37	chr6	90466006	90466006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gggaacctactttatgattcCttgcactgtattcttgttca	7	9	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:90466006C>T	ENST00000369393.3	-	20	2921	c.2806G>A	c.(2806-2808)Gga>Aga	p.G936R	MDN1_ENST00000428876.1_Missense_Mutation_p.G936R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	936					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTATGATTCCTTGCACTGTA	0.333																																					p.G936R		Atlas-SNP	.											MDN1,NS,carcinoma,0,1	MDN1	478	1	0			c.G2806A						PASS	.						199	193	195					6																	90466006		2202	4296	6498	SO:0001583	missense	23195	exon20			TGATTCCTTGCAC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2806G>A	6.37:g.90466006C>T	ENSP00000358400:p.Gly936Arg	Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	129	34	0.263566	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402192	0.62288	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.38240	1.15;1.15;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	L	0.39085	1.19	0.80722	D	1	B;B	0.33345	0.409;0.308	B;B	0.37550	0.168;0.253	T	0.04400	-1.0954	10	0.17832	T	0.49	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	863;936	Q5T795;Q9NU22	.;MDN1_HUMAN	R	936;936;863	ENSP00000358400:G936R;ENSP00000413970:G936R;ENSP00000409664:G863R	ENSP00000358400:G936R	G	-	1	0	MDN1	90522727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.949000	0.75971	2.826000	0.97356	0.563000	0.77884	GGA	.	.	none		0.333	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90466006	C	T	90466006	3	4	41	1	0	0	0	0	1	0	0	0	9415	690	24	2	14316	2	MDN1	6	90466006	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	27578838	90466006	80649061	100	24416										
FAM120B	84498	hgsc.bcm.edu	37	chr6	170704591	170704591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acagggaggtggggaagacaGggctccagctaccacaggac	16	10	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr6:170704591G>A	ENST00000476287.1	+	9	2724	c.2616G>A	c.(2614-2616)caG>caA	p.Q872Q	FAM120B_ENST00000252510.9_Silent_p.Q204Q|FAM120B_ENST00000537664.1_Silent_p.Q895Q|FAM120B_ENST00000540480.1_Silent_p.Q884Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	872					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGGGAAGACAGGGCTCCAGCT	0.542																																					p.Q872Q		Atlas-SNP	.											.	FAM120B	108	.	0			c.G2616A						PASS	.						45	37	40					6																	170704591		2196	4293	6489	SO:0001819	synonymous_variant	84498	exon9			AAGACAGGGCTCC	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2616G>A	6.37:g.170704591G>A		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	61	20	0.327869	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																			.	.	none		0.542	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		A	170704591	G	A	170704591	2	1	41	1	0	0	0	0	0	0	0	1	5417	991	35	2		2	FAM120B	6	170704591	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	80238585	170704591	410476	101	24417										
ZNF273	10793	hgsc.bcm.edu	37	chr7	64388883	64388883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cctcaacccttactagacatAagatagttcatactggagag	7	10	2	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:64388883A>C	ENST00000476120.1	+	4	1248	c.1177A>C	c.(1177-1179)Aag>Cag	p.K393Q	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K328Q	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TACTAGACATAAGATAGTTCA	0.353																																					p.K393Q	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	Atlas-SNP	.											.	ZNF273	45	.	0			c.A1177C						PASS	.						49	53	52					7																	64388883		2201	4298	6499	SO:0001583	missense	10793	exon4			AGACATAAGATAG	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1177A>C	7.37:g.64388883A>C	ENSP00000418719:p.Lys393Gln	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	65	13	0.2	NM_021148	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	13.59	2.283312	0.40394	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07567	3.18;3.18	1.16	-0.975	0.10289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.11789	0.175	0.21105	N	0.999781	D	0.76494	0.999	D	0.74023	0.982	T	0.35076	-0.9803	9	0.13108	T	0.6	.	4.7908	0.13248	0.3721:0.6278:0.0:0.0	.	393	Q14593	ZN273_HUMAN	Q	393;328	ENSP00000418719:K393Q;ENSP00000324518:K328Q	ENSP00000324518:K328Q	K	+	1	0	ZNF273	64026318	0.000000	0.05858	0.786000	0.31890	0.785000	0.44390	-0.741000	0.04855	0.175000	0.19841	0.172000	0.16884	AAG	.	.	none		0.353	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			C	64388883	A	C	64388883	3	2	41	1	0	0	0	0	1	0	0	0	17805	363	13	5	1191	5	ZNF273	7	64388883	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10		64388883	94749780	102	24418										
SEMA3E	9723	hgsc.bcm.edu	37	chr7	83036446	83036446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccgaccctggtgtaaattgcGtgagcattgttttctgcctc	10	11	1	1	rs533306215		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:83036446G>A	ENST00000307792.3	-	7	1247	c.780C>T	c.(778-780)caC>caT	p.H260H	SEMA3E_ENST00000427262.1_Silent_p.H200H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTAAATTGCGTGAGCATTGT	0.403																																					p.H260H		Atlas-SNP	.											.	SEMA3E	125	.	0			c.C780T						PASS	.						116	108	111					7																	83036446		2203	4300	6503	SO:0001819	synonymous_variant	9723	exon7			AATTGCGTGAGCA	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.780C>T	7.37:g.83036446G>A		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	54	14	0.259259	NM_012431	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																			.	.	none		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83036446	G	A	83036446	2	1	41	1	0	0	0	0	0	0	0	1	14028	1136	40	1		1	SEMA3E	7	83036446	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	18647563	83036446	76102217	103	24419										
MUC17	140453	hgsc.bcm.edu	37	chr7	100682814	100682814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagcaccacgctgttggccaAttctgaggctagcacccttt	9	14	1	1	rs201007776		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:100682814A>G	ENST00000306151.4	+	3	8181	c.8117A>G	c.(8116-8118)aAt>aGt	p.N2706S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2706	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)					CTGTTGGCCAATTCTGAGGCT	0.493																																					p.N2706S		Atlas-SNP	.											MUC17,NS,carcinoma,0,1	MUC17	804	1	0			c.A8117G						scavenged	.						245	255	251					7																	100682814		2203	4300	6503	SO:0001583	missense	140453	exon3			TGGCCAATTCTGA	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.8117A>G	7.37:g.100682814A>G	ENSP00000302716:p.Asn2706Ser	Somatic	55	2	0.0363636		WXS	Illumina HiSeq	Phase_I	76	5	0.0657895	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274581	0.01410	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.37	-0.741	0.11112	.	.	.	.	.	T	0.00754	0.0025	N	0.02539	-0.55	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43065	-0.9414	9	0.06236	T	0.91	.	0.1449	0.00087	0.2508:0.246:0.2581:0.2451	.	2706	Q685J3	MUC17_HUMAN	S	2706	ENSP00000302716:N2706S	ENSP00000302716:N2706S	N	+	2	0	MUC17	100469534	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.783000	0.04638	-2.048000	0.00907	-1.389000	0.01157	AAT	A|0.999;G|0.001	0.001	weak		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100682814	A	G	100682814	3	3	41	1	0	0	0	0	1	0	0	0	9974	101	4	2	8127	2	MUC17	7	100682814	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	17646368	100682814	58455849	104	24420										
LRRN3	54674	hgsc.bcm.edu	37	chr7	110764565	110764565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctgatgtcaaggtatataaTcttactcatctgaatccatc	5	9	5	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:110764565T>C	ENST00000422987.3	+	2	2568	c.1737T>C	c.(1735-1737)aaT>aaC	p.N579N	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.N579N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Silent_p.N579N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	579	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGGTATATAATCTTACTCATC	0.343																																					p.N579N		Atlas-SNP	.											.	LRRN3	132	.	0			c.T1737C						PASS	.						52	49	50					7																	110764565		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			ATATAATCTTACT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1737T>C	7.37:g.110764565T>C		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	16	0.333333	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			.	.	none		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110764565	T	C	110764565	2	2	41	1	0	0	0	0	0	0	0	1	9036	1432	50	2		2	LRRN3	7	110764565	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	10081751	110764565	48374098	105	24421										
PPP1R3A	5506	hgsc.bcm.edu	37	chr7	113517882	113517882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cattaagtcataatggtagaCagttataagaaatatcagaa	7	4	2	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:113517882C>T	ENST00000284601.3	-	4	3333	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1089					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATGGTAGACAGTTATAAGA	0.348																																					p.V1089I		Atlas-SNP	.											PPP1R3A,caecum,carcinoma,+1,1	PPP1R3A	317	1	0			c.G3265A						PASS	.						84	86	86					7																	113517882		2202	4299	6501	SO:0001583	missense	5506	exon4			GGTAGACAGTTAT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3265G>A	7.37:g.113517882C>T	ENSP00000284601:p.Val1089Ile	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	81	20	0.246914	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782052	0.00634	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	5.85	-0.598	0.11649	.	0.641150	0.15224	N	0.273777	T	0.05410	0.0143	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.12766	T	0.61	0.3076	1.0196	0.01515	0.2055:0.2575:0.1164:0.4207	.	1089	Q16821	PPR3A_HUMAN	I	1089	ENSP00000284601:V1089I	ENSP00000284601:V1089I	V	-	1	0	PPP1R3A	113305118	0.942000	0.31987	0.951000	0.38953	0.577000	0.36160	0.348000	0.20031	-0.316000	0.08690	-0.247000	0.11927	GTC	.	.	none		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113517882	C	T	113517882	3	4	41	1	0	0	0	0	1	0	0	0	12371	478	17	2	107	2	PPP1R3A	7	113517882	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	2753317	113517882	45620781	106	24422										
TAS2R16	50833	hgsc.bcm.edu	37	chr7	122634896	122634896	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cattaagatgaaagcatagaCaaaagcttcccagacccata	6	10	0	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr7:122634896C>G	ENST00000249284.2	-	1	858	c.793G>C	c.(793-795)Gtc>Ctc	p.V265L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	265					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGCATAGACAAAAGCTTCC	0.398																																					p.V265L		Atlas-SNP	.											.	TAS2R16	57	.	0			c.G793C						PASS	.						128	126	127					7																	122634896		2203	4300	6503	SO:0001583	missense	50833	exon1			CATAGACAAAAGC	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.793G>C	7.37:g.122634896C>G	ENSP00000249284:p.Val265Leu	Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	69	29	0.42029	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288649	0.23478	.	.	ENSG00000128519	ENST00000249284	T	0.35973	1.28	4.68	2.13	0.27403	.	0.443137	0.20257	N	0.095949	T	0.21509	0.0518	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.16305	-1.0407	10	0.28530	T	0.3	.	6.2548	0.20867	0.0:0.2053:0.0:0.7947	.	265	Q9NYV7	T2R16_HUMAN	L	265	ENSP00000249284:V265L	ENSP00000249284:V265L	V	-	1	0	TAS2R16	122422132	0.933000	0.31639	0.003000	0.11579	0.021000	0.10359	2.498000	0.45363	0.385000	0.24970	-0.423000	0.05987	GTC	.	.	none		0.398	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		G	122634896	C	G	122634896	3	3	41	1	0	0	0	0	1	0	0	0	15566	478	17	4	86	4	TAS2R16	7	122634896	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	9117014	122634896	36503767	107	24423										
MYST3	7994	hgsc.bcm.edu	37	chr8	41834600	41834600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	attgctcagagtagtccaccActtccccccgagctttccgc	7	17	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:41834600A>G	ENST00000396930.3	-	8	1832	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	KAT6A_ENST00000485568.1_Missense_Mutation_p.V430A|KAT6A_ENST00000265713.2_Missense_Mutation_p.V430A|KAT6A_ENST00000406337.1_Missense_Mutation_p.V430A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	430	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTAGTCCACCACTTCCCCCCG	0.458																																					p.V430A		Atlas-SNP	.											.	.	.	.	0			c.T1289C						PASS	.						121	116	118					8																	41834600		2203	4300	6503	SO:0001583	missense	7994	exon8			TCCACCACTTCCC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1289T>C	8.37:g.41834600A>G	ENSP00000380136:p.Val430Ala	Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	221	64	0.289593	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211518	0.39102	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84730	0.11;0.11;0.11;-1.89	5.52	3.07	0.35406	.	0.274720	0.30732	N	0.008981	T	0.75177	0.3814	L	0.34521	1.04	0.37487	D	0.916244	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.66598	-0.5883	10	0.33940	T	0.23	-8.0183	8.4599	0.32921	0.7849:0.0:0.2151:0.0	.	430;430	A5PLL3;Q92794	.;KAT6A_HUMAN	A	430	ENSP00000265713:V430A;ENSP00000385888:V430A;ENSP00000380136:V430A;ENSP00000430606:V430A	ENSP00000265713:V430A	V	-	2	0	KAT6A	41953757	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.017000	0.64047	0.359000	0.24239	0.529000	0.55759	GTG	.	.	none		0.458	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41834600	A	G	41834600	3	3	41	1	0	0	0	0	1	0	0	0	10104	159	6	2	4769	2	MYST3	8	41834600	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10		41834600	104529422	108	24424										
EYA1	2138	hgsc.bcm.edu	37	chr8	72267114	72267114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctaccactcagacggctatgCgggctggttagatcctgcat	11	12	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:72267114C>T	ENST00000340726.3	-	3	666	c.27G>A	c.(25-27)ccG>ccA	p.P9P	EYA1_ENST00000303824.7_Silent_p.P9P|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Silent_p.P9P|EYA1_ENST00000388742.4_Silent_p.P9P|EYA1_ENST00000388743.2_Silent_p.P9P|EYA1_ENST00000388740.3_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	9					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GACGGCTATGCGGGCTGGTTA	0.453																																					p.P9P		Atlas-SNP	.											.	EYA1	108	.	0			c.G27A						PASS	.						171	168	169					8																	72267114		2203	4300	6503	SO:0001819	synonymous_variant	2138	exon2			GCTATGCGGGCTG	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.27G>A	8.37:g.72267114C>T		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	90	23	0.255556	NM_172059	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																			.	.	none		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72267114	C	T	72267114	2	4	41	1	0	0	0	0	0	0	0	1	5328	755	27	1		1	EYA1	8	72267114	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	30432514	72267114	74096908	109	24425										
ZFAT	57623	hgsc.bcm.edu	37	chr8	135612768	135612768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggtgggacacttcagcaagaTgttactgtgtttctgaatta	11	6	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:135612768T>C	ENST00000377838.3	-	7	2560	c.2386A>G	c.(2386-2388)Atc>Gtc	p.I796V	ZFAT_ENST00000523399.1_Missense_Mutation_p.I734V|ZFAT_ENST00000520356.1_Missense_Mutation_p.I784V|ZFAT_ENST00000520727.1_Missense_Mutation_p.I784V|ZFAT_ENST00000429442.2_Missense_Mutation_p.I784V|ZFAT_ENST00000520214.1_Missense_Mutation_p.I784V|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	796					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCAGCAAGATGTTACTGTGT	0.433																																					p.I796V		Atlas-SNP	.											.	ZFAT	265	.	0			c.A2386G						PASS	.						177	174	175					8																	135612768		1978	4157	6135	SO:0001583	missense	57623	exon7			GCAAGATGTTACT	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2386A>G	8.37:g.135612768T>C	ENSP00000367069:p.Ile796Val	Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	159	33	0.207547	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675100	0.47781	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.61	1.97	0.26223	.	0.297381	0.35805	N	0.002965	T	0.04137	0.0115	N	0.03917	-0.325	0.29344	N	0.865847	P;B;B;B	0.36412	0.552;0.192;0.009;0.001	B;B;B;B	0.27076	0.064;0.076;0.013;0.003	T	0.24154	-1.0168	10	0.66056	D	0.02	-19.3815	4.2442	0.10663	0.1385:0.2253:0.0:0.6362	.	734;784;784;796	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	784;784;784;796;784;683;734;784	ENSP00000427879:I784V;ENSP00000427831:I784V;ENSP00000394501:I784V;ENSP00000367069:I796V;ENSP00000428483:I784V;ENSP00000429091:I734V	ENSP00000326997:I683V	I	-	1	0	ZFAT	135681950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.914000	0.28624	0.502000	0.28037	0.533000	0.62120	ATC	.	.	none		0.433	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		C	135612768	T	C	135612768	3	2	41	1	0	0	0	0	1	0	0	0	17629	1464	51	2	1385	2	ZFAT	8	135612768	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	63345654	135612768	10751254	110	24426										
PLEC	5339	hgsc.bcm.edu	37	chr8	144997818	144997818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcctgcacccgggcctcctcCgcctcctcagccgcccgccg	10	24	1	0	rs539190005		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr8:144997818C>T	ENST00000322810.4	-	31	6859	c.6690G>A	c.(6688-6690)gcG>gcA	p.A2230A	PLEC_ENST00000357649.2_Silent_p.A2097A|PLEC_ENST00000354589.3_Silent_p.A2093A|PLEC_ENST00000436759.2_Silent_p.A2120A|PLEC_ENST00000345136.3_Silent_p.A2093A|PLEC_ENST00000356346.3_Silent_p.A2079A|PLEC_ENST00000354958.2_Silent_p.A2071A|PLEC_ENST00000398774.2_Silent_p.A2061A|PLEC_ENST00000527096.1_Silent_p.A2116A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2230	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGCCTCCTCCGCCTCCTCAG	0.736																																					p.A2230A		Atlas-SNP	.											.	PLEC	1144	.	0			c.G6690A						PASS	.						3	4	4					8																	144997818		1654	3519	5173	SO:0001819	synonymous_variant	5339	exon31			CTCCTCCGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6690G>A	8.37:g.144997818C>T		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	41	9	0.219512	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.	.	none		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144997818	C	T	144997818	2	4	41	1	0	0	0	0	0	0	0	1	12052	639	23	1		1	PLEC	8	144997818	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	9385050	144997818	1366204	111	24427										
TYRP1	7306	hgsc.bcm.edu	37	chr9	12694262	12694262	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggcagagatgatcgggaggTctggcccttgcgcttcttca	14	10	3	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:12694262T>A	ENST00000388918.5	+	2	395	c.266T>A	c.(265-267)gTc>gAc	p.V89D	TYRP1_ENST00000381137.2_De_novo_Start_InFrame|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	89					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATCGGGAGGTCTGGCCCTTG	0.587									Oculocutaneous Albinism																												p.V89D		Atlas-SNP	.											.	TYRP1	60	.	0			c.T266A						PASS	.						48	42	44					9																	12694262		2203	4300	6503	SO:0001583	missense	7306	exon2	Familial Cancer Database		GGGAGGTCTGGCC	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.266T>A	9.37:g.12694262T>A	ENSP00000373570:p.Val89Asp	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	41	11	0.268293	NM_000550	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	t	4.240	0.043527	0.08196	.	.	ENSG00000107165	ENST00000473763;ENST00000388918	T;D	0.83992	2.37;-1.79	5.5	-11.0	0.00169	Uncharacterised domain, di-copper centre (1);	0.887861	0.09965	N	0.732931	T	0.43077	0.1231	N	0.00771	-1.2	0.09310	N	1	B	0.17038	0.02	B	0.22386	0.039	T	0.49380	-0.8946	10	0.15499	T	0.54	-8.1282	2.5154	0.04667	0.2616:0.3919:0.1284:0.218	.	89	P17643	TYRP1_HUMAN	D	89	ENSP00000419006:V89D;ENSP00000373570:V89D	ENSP00000373570:V89D	V	+	2	0	TYRP1	12684262	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.596000	0.05720	-2.394000	0.00583	-2.484000	0.00197	GTC	.	.	none		0.587	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12694262	T	A	12694262	3	1	41	1	0	0	0	0	1	0	0	0	16813	1667	58	5	268	5	TYRP1	9	12694262	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10		12694262	128519169	112	24428										
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797962	33797962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aatgacatcatgctgatcaaActctcctcacctgccgtcat	5	14	5	2	rs374178684		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:33797962A>G	ENST00000361005.5	+	3	507	c.507A>G	c.(505-507)aaA>aaG	p.K169K	PRSS3_ENST00000429677.3_Silent_p.K105K|PRSS3_ENST00000342836.4_Silent_p.K126K|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.K112K	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGCTGATCAAACTCTCCTCAC	0.567																																					p.K169K		Atlas-SNP	.											PRSS3_ENST00000361005,NS,neuroblastoma,0,3	PRSS3	79	3	0			c.A507G						scavenged	.						266	201	223					9																	33797962		2203	4300	6503	SO:0001819	synonymous_variant	5646	exon3			GATCAAACTCTCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.507A>G	9.37:g.33797962A>G		Somatic	108	3	0.0277778		WXS	Illumina HiSeq	Phase_I	102	5	0.0490196	NM_007343	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																			.	.	weak		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		G	33797962	A	G	33797962	2	3	41	1	0	0	0	0	0	0	0	1	12622	40	2	2		2	PRSS3	9	33797962	Silent	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	21103700	33797962	107415469	113	24429										
DCAF12	25853	hgsc.bcm.edu	37	chr9	34125210	34125210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acttcccggttcttcaagtaGtatactaaggatctcttcac	6	11	4	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:34125210G>A	ENST00000361264.4	-	2	485	c.144C>T	c.(142-144)taC>taT	p.Y48Y	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	48					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCTTCAAGTAGTATACTAAGG	0.463																																					p.Y48Y		Atlas-SNP	.											.	DCAF12	37	.	0			c.C144T						PASS	.						90	85	86					9																	34125210		2203	4300	6503	SO:0001819	synonymous_variant	25853	exon2			CAAGTAGTATACT	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.144C>T	9.37:g.34125210G>A		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	83	24	0.289157	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	ENST00000361264.4	37	CCDS6549.1																																																																																			.	.	none		0.463	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		A	34125210	G	A	34125210	2	1	41	1	0	0	0	0	0	0	0	1	4263	1024	36	2		2	DCAF12	9	34125210	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	327248	34125210	107088221	114	24430										
ANKS6	203286	hgsc.bcm.edu	37	chr9	101558444	101558444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgcatgagcgcgctccagccGtagtggttgcggctgttgac	15	11	0	2	rs76903503	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:101558444G>A	ENST00000353234.4	-	1	377	c.330C>T	c.(328-330)taC>taT	p.Y110Y	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.Y110Y			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	110						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CGCTCCAGCCGTAGTGGTTGC	0.771													G|||	620	0.123802	0.0234	0.1657	5008	,	,		7372	0.2262		0.1193	False		,,,				2504	0.1288				p.Y110Y		Atlas-SNP	.											ANKS6,NS,carcinoma,0,1	ANKS6	59	1	0			c.C330T						scavenged	.						1	1	1					9																	101558444		681	1650	2331	SO:0001819	synonymous_variant	203286	exon1			CCAGCCGTAGTGG	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.330C>T	9.37:g.101558444G>A		Somatic	5	3	0.6		WXS	Illumina HiSeq	Phase_I	8	7	0.875	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	CCDS43856.1																																																																																			G|0.871;A|0.129	0.129	strong		0.771	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		A	101558444	G	A	101558444	2	1	41	1	0	0	0	0	0	0	0	1	692	1140	40	1		1	ANKS6	9	101558444	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	67433234	101558444	39654987	115	24431										
ZFP37	7539	hgsc.bcm.edu	37	chr9	115806008	115806008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggctgagaacctttccacatTgattacattcatagggtttc	8	9	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:115806008T>C	ENST00000374227.3	-	4	917	c.890A>G	c.(889-891)cAa>cGa	p.Q297R	ZFP37_ENST00000555206.1_Missense_Mutation_p.Q298R|ZFP37_ENST00000553380.1_Missense_Mutation_p.Q312R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTCCACATTGATTACATTC	0.393																																					p.Q297R		Atlas-SNP	.											ZFP37,NS,carcinoma,-1,1	ZFP37	93	1	0			c.A890G						scavenged	.						196	187	190					9																	115806008		2203	4300	6503	SO:0001583	missense	7539	exon4			CCACATTGATTAC	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.890A>G	9.37:g.115806008T>C	ENSP00000363344:p.Gln297Arg	Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	173	2	0.0115607	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	T	6.691	0.496181	0.12762	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.28895	1.59;1.59;1.59	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.550760	0.15217	N	0.274126	T	0.29620	0.0739	L	0.58810	1.83	0.09310	N	1	B;B;B	0.34015	0.435;0.435;0.412	B;B;B	0.28139	0.086;0.086;0.067	T	0.28396	-1.0045	10	0.87932	D	0	-2.5183	11.9346	0.52866	0.0:0.0:0.0:1.0	.	298;312;297	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	R	297;298;312	ENSP00000363344:Q297R;ENSP00000451310:Q298R;ENSP00000452552:Q312R	ENSP00000363344:Q297R	Q	-	2	0	ZFP37	114845829	0.014000	0.17966	0.563000	0.28383	0.548000	0.35241	1.785000	0.38684	2.141000	0.66446	0.533000	0.62120	CAA	.	.	none		0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		C	115806008	T	C	115806008	3	2	41	1	0	0	0	0	1	0	0	0	17645	1812	63	2	1006	2	ZFP37	9	115806008	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	14247564	115806008	25407423	116	24432										
C5	727	hgsc.bcm.edu	37	chr9	123783934	123783934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcattcagtgttactgggacTcctcctaccaactggtcaag	9	12	2	0	rs10985126	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr9:123783934T>C	ENST00000223642.1	-	11	1184	c.1155A>G	c.(1153-1155)ggA>ggG	p.G385G		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	385					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTACTGGGACTCCTCCTACCA	0.393													C|||	1208	0.241214	0.4418	0.1037	5008	,	,		19524	0.244		0.167	False		,,,				2504	0.1411				p.G385G		Atlas-SNP	.											C5,NS,adenoma,0,1	C5	124	1	0			c.A1155G						scavenged	.	C		1677,2729	653.1+/-399.5	318,1041,844	189	177	181		1155	1.9	0.2	9	dbSNP_120	181	1548,7052	745.4+/-407.3	141,1266,2893	no	coding-synonymous	C5	NM_001735.2		459,2307,3737	CC,CT,TT		18.0,38.0617,24.7962		385/1677	123783934	3225,9781	2203	4300	6503	SO:0001819	synonymous_variant	727	exon11			TGGGACTCCTCCT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1155A>G	9.37:g.123783934T>C		Somatic	232	1	0.00431034		WXS	Illumina HiSeq	Phase_I	239	5	0.0209205	NM_001735	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																			T|0.764;C|0.236	0.236	strong		0.393	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123783934	T	C	123783934	2	2	41	1	0	0	0	0	0	0	0	1	2280	1538	54	3		3	C5	9	123783934	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	7977926	123783934	17429497	117	24433										
ADARB2	105	hgsc.bcm.edu	37	chr10	1230952	1230952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgaaggggggcgacttccccGgctggcgcgcctcggcgtca	17	14	1	1	rs138785387		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:1230952G>A	ENST00000381312.1	-	9	2217	c.1892C>T	c.(1891-1893)cCg>cTg	p.P631L	ADARB2_ENST00000381305.1_Missense_Mutation_p.P33L|ADARB2_ENST00000381310.3_Missense_Mutation_p.P140L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	631	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGACTTCCCCGGCTGGCGCGC	0.682																																					p.P631L		Atlas-SNP	.											.	ADARB2	95	.	0			c.C1892T						PASS	.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	27	27	27		1892	4.8	0.9	10	dbSNP_134	27	2,8594	2.2+/-6.3	0,2,4296	yes	missense	ADARB2	NM_018702.3	98	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	631/740	1230952	3,12999	2203	4298	6501	SO:0001583	missense	105	exon9			TTCCCCGGCTGGC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1892C>T	10.37:g.1230952G>A	ENSP00000370713:p.Pro631Leu	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	73	24	0.328767	NM_018702	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714870	0.48622	2.27E-4	2.33E-4	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.93659	-3.26;-3.26;-3.26	4.81	4.81	0.61882	Adenosine deaminase/editase (3);	0.222293	0.46758	D	0.000264	D	0.94706	0.8292	M	0.78049	2.395	0.58432	D	0.999994	P;P;D	0.59767	0.933;0.932;0.986	P;P;P	0.49085	0.537;0.6;0.475	D	0.95484	0.8563	10	0.72032	D	0.01	-27.7191	17.8992	0.88898	0.0:0.0:1.0:0.0	.	631;33;140	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	L	631;140;33	ENSP00000370713:P631L;ENSP00000370711:P140L;ENSP00000370706:P33L	ENSP00000370706:P33L	P	-	2	0	ADARB2	1220952	1.000000	0.71417	0.920000	0.36463	0.080000	0.17528	4.341000	0.59335	2.220000	0.72140	0.561000	0.74099	CCG	G|1.000;A|0.000	0.000	weak		0.682	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		A	1230952	G	A	1230952	3	1	41	1	0	0	0	0	1	0	0	0	283	1116	39	1	335	1	ADARB2	10	1230952	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		1230952	134303795	118	24434										
ST8SIA6	338596	hgsc.bcm.edu	37	chr10	17363320	17363320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aatgtcctccagaaatagggCttttttttcctttaagttcc	6	9	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:17363320C>T	ENST00000377602.4	-	8	828	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	252					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAAATAGGGCTTTTTTTTCC	0.348																																					p.A252T		Atlas-SNP	.											.	ST8SIA6	85	.	0			c.G754A						PASS	.						37	41	40					10																	17363320		2195	4298	6493	SO:0001583	missense	338596	exon8			ATAGGGCTTTTTT		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.754G>A	10.37:g.17363320C>T	ENSP00000366827:p.Ala252Thr	Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	70	17	0.242857	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.129|0.129	-1.116296|-1.116296	0.01799|0.01799	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.29142|.	1.58|.	5.18|5.18	2.08|2.08	0.27032|0.27032	.|.	0.599365|.	0.19535|.	N|.	0.111928|.	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.25094|0.25094	0.71|0.71	0.09310|0.09310	N|N	1|1	B|.	0.18461|.	0.028|.	B|.	0.19666|.	0.026|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.19590|.	T|.	0.45|.	-9.7736|-9.7736	4.24|4.24	0.10643|0.10643	0.2922:0.4836:0.0:0.2242|0.2922:0.4836:0.0:0.2242	.|.	252|.	P61647|.	SIA8F_HUMAN|.	T|N	82;252|72	ENSP00000366827:A252T|.	ENSP00000366827:A252T|.	A|S	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403326|17403326	0.002000|0.002000	0.14202|0.14202	0.014000|0.014000	0.15608|0.15608	0.041000|0.041000	0.13682|0.13682	-0.286000|-0.286000	0.08399|0.08399	0.850000|0.850000	0.35239|0.35239	-0.142000|-0.142000	0.14014|0.14014	GCC|AGC	.	.	none		0.348	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		T	17363320	C	T	17363320	3	4	41	1	0	0	0	0	1	0	0	0	15235	797	28	2	446	2	ST8SIA6	10	17363320	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	16132368	17363320	118171427	119	24435										
ARID5B	84159	hgsc.bcm.edu	37	chr10	63661942	63661942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tcggctcaccgtgtggcttgCacggaccttacattttctac	9	13	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:63661942C>T	ENST00000279873.7	+	2	456	c.46C>T	c.(46-48)Cac>Tac	p.H16Y		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	16					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GTGTGGCTTGCACGGACCTTA	0.438																																					p.H16Y		Atlas-SNP	.											.	ARID5B	125	.	0			c.C46T						PASS	.						95	103	100					10																	63661942		2203	4300	6503	SO:0001583	missense	84159	exon2			GGCTTGCACGGAC	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.46C>T	10.37:g.63661942C>T	ENSP00000279873:p.His16Tyr	Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	133	30	0.225564	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742927	0.69418	.	.	ENSG00000150347	ENST00000279873	T	0.53640	0.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.65498	2.005	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.991;0.983	T	0.70310	-0.4907	10	0.87932	D	0	-19.9629	18.7117	0.91659	0.0:1.0:0.0:0.0	.	16;16	Q14865-3;Q14865	.;ARI5B_HUMAN	Y	16	ENSP00000279873:H16Y	ENSP00000279873:H16Y	H	+	1	0	ARID5B	63331948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.809000	0.75211	2.712000	0.92718	0.650000	0.86243	CAC	.	.	none		0.438	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63661942	C	T	63661942	3	4	41	1	0	0	0	0	1	0	0	0	922	710	25	2	52	2	ARID5B	10	63661942	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	46298622	63661942	71872805	120	24436										
UNC5B	219699	hgsc.bcm.edu	37	chr10	73050831	73050831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atctgctgccctgactggtgGtttccaccccgtcaacttta	8	14	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:73050831G>T	ENST00000335350.6	+	9	1675	c.1259G>T	c.(1258-1260)gGt>gTt	p.G420V	UNC5B_ENST00000373192.4_Missense_Mutation_p.G409V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	420					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGACTGGTGGTTTCCACCCC	0.597																																					p.G420V		Atlas-SNP	.											UNC5B,NS,neuroblastoma,+1,2	UNC5B	123	2	0			c.G1259T						PASS	.						240	226	231					10																	73050831		2203	4300	6503	SO:0001583	missense	219699	exon9			CTGGTGGTTTCCA	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1259G>T	10.37:g.73050831G>T	ENSP00000334329:p.Gly420Val	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	50	15	0.3	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013898	0.54468	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.56275	0.58;0.47	5.39	5.39	0.77823	.	0.108387	0.64402	D	0.000005	T	0.74061	0.3667	M	0.82823	2.61	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.62382	0.901;0.743	T	0.77656	-0.2506	10	0.62326	D	0.03	-29.0247	19.1392	0.93441	0.0:0.0:1.0:0.0	.	409;420	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	420;409	ENSP00000334329:G420V;ENSP00000362288:G409V	ENSP00000334329:G420V	G	+	2	0	UNC5B	72720837	1.000000	0.71417	0.961000	0.40146	0.094000	0.18550	7.387000	0.79785	2.535000	0.85469	0.655000	0.94253	GGT	.	.	none		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73050831	G	T	73050831	3	4	41	1	0	0	0	0	1	0	0	0	16989	1261	44	4	1293	4	UNC5B	10	73050831	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	9388889	73050831	62483916	121	24437										
PTEN	5728	hgsc.bcm.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	caaataaagacaaagccaacCgatacttttctccaaatttt	3	10	1	1	rs121909231		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R335X		Atlas-SNP	.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	PTEN,colon,carcinoma,-1,27	PTEN	3652	27	77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	c.C1003T	GRCh37	CM971278	PTEN	M	rs121909231	PASS	.						60	63	62					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	exon8	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	GCCAACCGATACT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	160	28	0.175	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA	.	.	weak		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720852	C	T	89720852	4	4	41	1	0	0	0	0	0	1	0	0	12738	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	16670021	89720852	45813895	122	24438										
TH	7054	hgsc.bcm.edu	37	chr11	2189155	2189155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgctggcggtacacctggtcCgagaagccctgagggcagag	16	12	0	3	rs376615793		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:2189155C>T	ENST00000381178.1	-	6	696	c.678G>A	c.(676-678)tcG>tcA	p.S226S	TH_ENST00000381175.1_Silent_p.S222S|TH_ENST00000352909.3_Silent_p.S195S|TH_ENST00000333684.5_Silent_p.S199S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	226					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACACCTGGTCCGAGAAGCCCT	0.672																																					p.S226S		Atlas-SNP	.											TH,colon,carcinoma,-1,1	TH	43	1	0			c.G678A						PASS	.	C	,,	0,4388		0,0,2194	34	28	30		585,678,666	-7.2	0.8	11		30	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	TH	NM_000360.3,NM_199292.2,NM_199293.2	,,	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	,,	195/498,226/529,222/525	2189155	2,12982	2194	4298	6492	SO:0001819	synonymous_variant	7054	exon6			CTGGTCCGAGAAG	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.678G>A	11.37:g.2189155C>T		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	95	48	0.505263	NM_199292	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216711	0.22373	0.0	2.33E-4	ENSG00000180176	ENST00000412076	.	.	.	3.59	-7.18	0.01505	.	.	.	.	.	T	0.33614	0.0869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-27.0867	0.3619	0.00366	0.2736:0.2138:0.2712:0.2415	.	.	.	.	R	9	.	.	G	-	1	0	TH	2145731	0.000000	0.05858	0.835000	0.33067	0.819000	0.46315	-2.626000	0.00874	-1.699000	0.01416	-0.802000	0.03209	GGA	.	.	weak		0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2189155	C	T	2189155	2	4	41	1	0	0	0	0	0	0	0	1	15835	639	23	1		1	TH	11	2189155	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		2189155	132817361	123	24439										
SLC17A6	57084	hgsc.bcm.edu	37	chr11	22364888	22364888	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagattccgggaggctacatCgcgtctcggctggcagccaa	13	13	1	1	rs557561735		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:22364888C>T	ENST00000263160.3	+	3	872	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	145					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGCTACATCGCGTCTCGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15895	0.0		0.0	False		,,,				2504	0.0				p.I145I		Atlas-SNP	.											.	SLC17A6	135	.	0			c.C435T						PASS	.						64	67	66					11																	22364888		2203	4300	6503	SO:0001819	synonymous_variant	57084	exon3			CTACATCGCGTCT	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.435C>T	11.37:g.22364888C>T		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	27	8	0.296296	NM_020346	A6NKS2	Silent	SNP	ENST00000263160.3	37	CCDS7856.1																																																																																			.	.	none		0.587	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		T	22364888	C	T	22364888	2	4	41	1	0	0	0	0	0	0	0	1	14421	874	31	1		1	SLC17A6	11	22364888	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	20175733	22364888	112641628	124	24440										
ANO3	63982	hgsc.bcm.edu	37	chr11	26664763	26664763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tttaccaccatctttgttgcGgcttttcctctagcccctct	5	15	3	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:26664763G>A	ENST00000256737.3	+	23	3162	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	ANO3_ENST00000525139.1_Silent_p.A754A|ANO3_ENST00000531568.1_Silent_p.A624A|ANO3_ENST00000537978.1_Silent_p.A754A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	770					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTTTGTTGCGGCTTTTCCTC	0.383																																					p.A770A		Atlas-SNP	.											ANO3,right_upper_lobe,carcinoma,0,1	ANO3	145	1	0			c.G2310A						PASS	.						123	111	115					11																	26664763		2203	4299	6502	SO:0001819	synonymous_variant	63982	exon23			TGTTGCGGCTTTT	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2310G>A	11.37:g.26664763G>A		Somatic	190	0	0		WXS	Illumina HiSeq	Phase_I	200	59	0.295	NM_031418	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																			.	.	none		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		A	26664763	G	A	26664763	2	1	41	1	0	0	0	0	0	0	0	1	698	1103	39	1		1	ANO3	11	26664763	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4299875	26664763	108341753	125	24441										
QSER1	79832	hgsc.bcm.edu	37	chr11	32975559	32975559	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aagctcttcagaatcctcaaAgcccattgaacttgatggtc	7	11	3	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:32975559A>T	ENST00000399302.2	+	5	4282	c.3947A>T	c.(3946-3948)aAg>aTg	p.K1316M	QSER1_ENST00000527788.1_Missense_Mutation_p.K1077M	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1316										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATCCTCAAAGCCCATTGAA	0.433																																					p.K1316M		Atlas-SNP	.											.	QSER1	153	.	0			c.A3947T						PASS	.						84	80	81					11																	32975559		1891	4106	5997	SO:0001583	missense	79832	exon5			CCTCAAAGCCCAT	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3947A>T	11.37:g.32975559A>T	ENSP00000382241:p.Lys1316Met	Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	78	19	0.24359	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.99|11.99	1.804089|1.804089	0.31869|0.31869	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.27557|.	1.99;1.66|.	5.92|5.92	3.59|3.59	0.41128|0.41128	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.57536|0.57536	1.79|1.79	0.33676|0.33676	D|D	0.611481|0.611481	D;D;D|.	0.71674|.	0.998;0.969;0.983|.	D;P;P|.	0.63113|.	0.911;0.719;0.62|.	T|T	0.61744|0.61744	-0.7000|-0.7000	10|5	0.72032|.	D|.	0.01|.	.|.	8.6295|8.6295	0.33911|0.33911	0.798:0.1346:0.0675:0.0|0.798:0.1346:0.0675:0.0	.|.	1077;1077;1316|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	M|C	1316;1077;1077|337	ENSP00000382241:K1316M;ENSP00000432766:K1077M|.	ENSP00000078652:K1077M|.	K|S	+|+	2|1	0|0	QSER1|QSER1	32932135|32932135	0.990000|0.990000	0.36364|0.36364	0.149000|0.149000	0.22428|0.22428	0.006000|0.006000	0.05464|0.05464	3.184000|3.184000	0.50926|0.50926	0.488000|0.488000	0.27723|0.27723	-0.361000|-0.361000	0.07541|0.07541	AAG|AGC	.	.	none		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32975559	A	T	32975559	3	4	41	1	0	0	0	0	1	0	0	0	12882	72	3	5	3957	5	QSER1	11	32975559	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	6310796	32975559	102030957	126	24442										
C11orf41	25758	hgsc.bcm.edu	37	chr11	33667498	33667498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaggtggtgaccagcgctccGgggaccatgacgcggcccag	17	13	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:33667498G>A	ENST00000321505.4	+	16	4965	c.4785G>A	c.(4783-4785)ccG>ccA	p.P1595P	KIAA1549L_ENST00000389726.3_Silent_p.P1601P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1595						integral component of membrane (GO:0016021)											CCAGCGCTCCGGGGACCATGA	0.672																																					p.P1595P		Atlas-SNP	.											.	.	.	.	0			c.G4785A						PASS	.						17	20	19					11																	33667498		2000	4159	6159	SO:0001819	synonymous_variant	25758	exon16			CGCTCCGGGGACC	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4785G>A	11.37:g.33667498G>A		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	108	26	0.240741	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.	.	none		0.672	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33667498	G	A	33667498	2	1	41	1	0	0	0	0	0	0	0	1	1640	1103	39	1		1	C11orf41	11	33667498	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	691939	33667498	101339018	127	24443										
OR5AP2	338675	hgsc.bcm.edu	37	chr11	56409003	56409003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	taagatcttctttagggcctTttttacatccttatttttta	4	7	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:56409003T>G	ENST00000302981.1	-	1	912	c.913A>C	c.(913-915)Aag>Cag	p.K305Q	OR5AP2_ENST00000544374.1_Missense_Mutation_p.K306Q	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTTAGGGCCTTTTTTACATCC	0.343																																					p.K305Q		Atlas-SNP	.											OR5AP2,NS,carcinoma,+2,1	OR5AP2	69	1	0			c.A913C						PASS	.						76	75	75					11																	56409003		2201	4296	6497	SO:0001583	missense	338675	exon1			GGGCCTTTTTTAC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.913A>C	11.37:g.56409003T>G	ENSP00000303111:p.Lys305Gln	Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	127	21	0.165354	NM_001002925	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.269067	0.05716	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.38722	1.12;1.12	4.94	-0.595	0.11660	.	1.447480	0.04221	N	0.333544	T	0.25419	0.0618	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22034	-1.0228	10	0.31617	T	0.26	.	9.4414	0.38670	0.0:0.4066:0.0:0.5934	.	305	Q8NGF4	O5AP2_HUMAN	Q	306;305	ENSP00000442701:K306Q;ENSP00000303111:K305Q	ENSP00000303111:K305Q	K	-	1	0	OR5AP2	56165579	0.000000	0.05858	0.029000	0.17559	0.238000	0.25445	-0.462000	0.06704	0.018000	0.15052	-0.192000	0.12808	AAG	.	.	none		0.343	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		G	56409003	T	G	56409003	3	3	41	1	0	0	0	0	1	0	0	0	11144	1850	64	5	41	5	OR5AP2	11	56409003	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	22741505	56409003	78597513	128	24444										
MTA2	9219	hgsc.bcm.edu	37	chr11	62368098	62368098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	attctgctccactcaccttgTtgagctcctcaatccgtcta	5	15	4	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:62368098T>C	ENST00000278823.2	-	2	481	c.92A>G	c.(91-93)aAc>aGc	p.N31S	MTA2_ENST00000524902.1_5'Flank|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	31	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTCACCTTGTTGAGCTCCTC	0.498																																					p.N31S		Atlas-SNP	.											MTA2,NS,carcinoma,0,1	MTA2	54	1	0			c.A92G						PASS	.						81	70	74					11																	62368098		2202	4299	6501	SO:0001583	missense	9219	exon2			ACCTTGTTGAGCT	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.92A>G	11.37:g.62368098T>C	ENSP00000278823:p.Asn31Ser	Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	72	14	0.194444	NM_004739	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	T	32	5.182718	0.94885	.	.	ENSG00000149480	ENST00000278823	D	0.85411	-1.98	4.85	4.85	0.62838	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.71296	2.17	0.80722	D	1	P	0.51057	0.941	D	0.71414	0.973	D	0.91635	0.5322	10	0.72032	D	0.01	-8.0007	12.3694	0.55246	0.0:0.0:0.0:1.0	.	31	O94776	MTA2_HUMAN	S	31	ENSP00000278823:N31S	ENSP00000278823:N31S	N	-	2	0	MTA2	62124674	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.192000	0.77771	1.806000	0.52798	0.460000	0.39030	AAC	.	.	none		0.498	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		C	62368098	T	C	62368098	3	2	41	1	0	0	0	0	1	0	0	0	9909	1725	60	2	1982	2	MTA2	11	62368098	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	5959095	62368098	72638418	129	24445										
PC	5091	hgsc.bcm.edu	37	chr11	66636367	66636367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acctgcaggcgggagttgacCtcgatgaagtagtgcttgcc	14	10	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:66636367C>G	ENST00000393958.2	-	9	1065	c.972G>C	c.(970-972)gaG>gaC	p.E324D	PC_ENST00000393955.2_Missense_Mutation_p.E324D|PC_ENST00000524491.1_Missense_Mutation_p.E284D|PC_ENST00000355677.3_Missense_Mutation_p.E324D|PC_ENST00000393960.1_Missense_Mutation_p.E324D	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	324	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGAGTTGACCTCGATGAAGT	0.667																																					p.E324D		Atlas-SNP	.											.	PC	116	.	0			c.G972C						PASS	.						85	76	79					11																	66636367		2200	4295	6495	SO:0001583	missense	5091	exon9			GTTGACCTCGATG	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.972G>C	11.37:g.66636367C>G	ENSP00000377530:p.Glu324Asp	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	92	8	0.0869565	NM_000920	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222436	0.79464	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33	4.65	3.74	0.42951	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.64402	D	0.000001	D	0.99771	0.9906	H	0.99498	4.595	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.97749	1.0213	10	0.87932	D	0	-29.5504	7.0636	0.25139	0.0:0.7935:0.0:0.2065	.	324	P11498	PYC_HUMAN	D	324;324;324;284;324	ENSP00000377527:E324D;ENSP00000377530:E324D;ENSP00000377532:E324D;ENSP00000434192:E284D;ENSP00000347900:E324D	ENSP00000347900:E324D	E	-	3	2	PC	66392943	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.402000	0.34600	0.949000	0.37715	0.561000	0.74099	GAG	.	.	none		0.667	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		G	66636367	C	G	66636367	3	3	41	1	0	0	0	0	1	0	0	0	11497	680	24	4	2620	4	PC	11	66636367	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4268269	66636367	68370149	130	24446										
P2RY6	5031	hgsc.bcm.edu	37	chr11	73008491	73008491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tcacccagaagaagttccgcCggcgaccacatgagctccta	9	15	1	3	rs139336490		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:73008491C>T	ENST00000393590.2	+	2	1227	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	P2RY6_ENST00000393591.1_Missense_Mutation_p.R310W|P2RY6_ENST00000542092.1_Missense_Mutation_p.R310W|P2RY6_ENST00000349767.2_Missense_Mutation_p.R310W|P2RY6_ENST00000393592.2_Missense_Mutation_p.R310W|P2RY6_ENST00000538328.1_Missense_Mutation_p.R310W|P2RY6_ENST00000540342.1_Missense_Mutation_p.R310W|P2RY6_ENST00000540124.1_Missense_Mutation_p.R310W	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	310					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GAAGTTCCGCCGGCGACCACA	0.587																																					p.R310W		Atlas-SNP	.											.	P2RY6	45	.	0			c.C928T						PASS	.						31	33	32					11																	73008491		2190	4275	6465	SO:0001583	missense	5031	exon4			TTCCGCCGGCGAC		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.928C>T	11.37:g.73008491C>T	ENSP00000377215:p.Arg310Trp	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	31	13	0.419355	NM_176796	Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225220	0.39300	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.92	4.92	0.64577	.	0.440844	0.23032	N	0.052725	T	0.32793	0.0841	M	0.76002	2.32	0.39492	D	0.968068	P	0.49635	0.926	B	0.36504	0.226	T	0.47623	-0.9103	10	0.87932	D	0	.	14.0296	0.64606	0.0:0.8365:0.1635:0.0	.	310	Q15077	P2RY6_HUMAN	W	310	ENSP00000443427:R310W;ENSP00000445652:R310W;ENSP00000309771:R310W;ENSP00000377217:R310W;ENSP00000377216:R310W;ENSP00000442551:R310W;ENSP00000377215:R310W;ENSP00000442990:R310W	ENSP00000309771:R310W	R	+	1	2	P2RY6	72686139	0.841000	0.29509	0.911000	0.35937	0.283000	0.27025	2.411000	0.44600	2.696000	0.92011	0.655000	0.94253	CGG	C|1.000;A|0.000	.	alt		0.587	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			T	73008491	C	T	73008491	3	4	41	1	0	0	0	0	1	0	0	0	11354	643	23	1	930	1	P2RY6	11	73008491	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	6372124	73008491	61998025	131	24447										
PGR	5241	hgsc.bcm.edu	37	chr11	100999588	100999588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgctggtcctgcgtcttttCgtcggaggggtcctgtccct	13	13	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:100999588C>T	ENST00000325455.5	-	1	1667	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.E72K	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	72	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCGTCTTTTCGTCGGAGGGG	0.617																																					p.E72K	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.G214A						PASS	.						63	54	57					11																	100999588		2203	4300	6503	SO:0001583	missense	5241	exon1			TCTTTTCGTCGGA	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.214G>A	11.37:g.100999588C>T	ENSP00000325120:p.Glu72Lys	Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	49	15	0.306122	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	2.430	-0.331127	0.05314	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09723	2.95;2.95	4.0	2.06	0.26882	.	1.260700	0.05663	N	0.587210	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B;B	0.31581	0.329;0.197	B;B	0.20577	0.03;0.03	T	0.40213	-0.9575	10	0.38643	T	0.18	.	11.1299	0.48341	0.0:0.6386:0.3614:0.0	.	72;72	Q8TDS3;P06401	.;PRGR_HUMAN	K	72	ENSP00000325120:E72K;ENSP00000263463:E72K	ENSP00000263463:E72K	E	-	1	0	PGR	100504798	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	-0.197000	0.09518	0.329000	0.23460	0.561000	0.74099	GAA	.	.	none		0.617	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100999588	C	T	100999588	3	4	41	1	0	0	0	0	1	0	0	0	11805	893	31	1	2619	1	PGR	11	100999588	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	27991097	100999588	34006928	132	24448										
DIXDC1	85458	hgsc.bcm.edu	37	chr11	111851576	111851576	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggaatagagaacagaacaggTactatctctacgcctgcctg	10	10	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:111851576T>C	ENST00000389821.4	+	6	1066		c.e6+2		DIXDC1_ENST00000440460.2_Splice_Site|DIXDC1_ENST00000315253.5_Splice_Site			Q155Q3	DIXC1_HUMAN	DIX domain containing 1						camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAGAACAGGTACTATCTCTA	0.483																																					.		Atlas-SNP	.											.	DIXDC1	50	.	0			c.769+2T>C						PASS	.						85	80	81					11																	111851576		1923	4122	6045	SO:0001630	splice_region_variant	85458	exon6			AACAGGTACTATC	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.1066+2T>C	11.37:g.111851576T>C		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	64	13	0.203125	NM_001037954	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Splice_Site	SNP	ENST00000389821.4	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.123010	0.77436	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1587	0.72764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIXDC1	111356786	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.091000	0.64505	2.182000	0.69389	0.533000	0.62120	.	.	.	none		0.483	DIXDC1-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000391833.1	NM_001037954	Intron	C	111851576	T	C	111851576	5	2	41	1	0	0	0	0	0	0	1	0	4541	1652	57	2	820	2	DIXDC1	11	111851576	Splice_Site	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	10851988	111851576	23154940	133	24449										
BCL9L	283149	hgsc.bcm.edu	37	chr11	118773438	118773438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cctgtgctggcagctcccacCgagttgggggccaggtcctg	15	14	0	0	rs35346926	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:118773438C>T	ENST00000334801.3	-	6	1978	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	338	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGCTCCCACCGAGTTGGGGG	0.721													C|||	46	0.0091853	0.0008	0.0043	5008	,	,		10008	0.0		0.0258	False		,,,				2504	0.0164				p.S338S		Atlas-SNP	.											.	BCL9L	254	.	0			c.G1014A						PASS	.	C		20,4378		1,18,2180	18	23	21		1014	-8.2	0.8	11	dbSNP_126	21	247,8341		4,239,4051	no	coding-synonymous	BCL9L	NM_182557.2		5,257,6231	TT,TC,CC		2.8761,0.4548,2.0561		338/1500	118773438	267,12719	2199	4294	6493	SO:0001819	synonymous_variant	283149	exon6			TCCCACCGAGTTG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1014G>A	11.37:g.118773438C>T		Somatic	0	0	.		WXS	Illumina HiSeq	Phase_I	11	8	0.727273	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																			C|0.983;T|0.017	0.017	strong		0.721	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118773438	C	T	118773438	2	4	41	1	0	0	0	0	0	0	0	1	1382	639	23	1		1	BCL9L	11	118773438	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	6921862	118773438	16233078	134	24450										
CRTAM	56253	hgsc.bcm.edu	37	chr11	122726409	122726409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aaattgctacataggtggaaCgctccatgaatttgaaactg	9	7	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:122726409C>T	ENST00000227348.4	+	5	544	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATAGGTGGAACGCTCCATGAA	0.408																																					p.T166M		Atlas-SNP	.											.	CRTAM	50	.	0			c.C497T						PASS	.						96	92	93					11																	122726409		2202	4299	6501	SO:0001583	missense	56253	exon5			GTGGAACGCTCCA	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.497C>T	11.37:g.122726409C>T	ENSP00000227348:p.Thr166Met	Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	116	20	0.172414	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972531	0.53614	.	.	ENSG00000109943	ENST00000227348	T	0.78364	-1.17	4.86	0.531	0.17108	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.419648	0.24831	N	0.035252	T	0.78444	0.4284	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	P	0.56398	0.797	T	0.68492	-0.5394	10	0.62326	D	0.03	.	4.9511	0.14015	0.3121:0.5166:0.0:0.1712	.	166	O95727	CRTAM_HUMAN	M	166	ENSP00000227348:T166M	ENSP00000227348:T166M	T	+	2	0	CRTAM	122231619	0.001000	0.12720	0.000000	0.03702	0.357000	0.29423	0.155000	0.16362	-0.090000	0.12462	0.462000	0.41574	ACG	.	.	none		0.408	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		T	122726409	C	T	122726409	3	4	41	1	0	0	0	0	1	0	0	0	3897	536	19	1	515	1	CRTAM	11	122726409	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3952971	122726409	12280107	135	24451										
DDX25	29118	hgsc.bcm.edu	37	chr11	125774440	125774440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgttactgtggggaggcgacGcaggggcggcggagagcgag	22	8	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr11:125774440G>A	ENST00000263576.6	+	1	183	c.28G>A	c.(28-30)Gca>Aca	p.A10T	RP11-680F20.9_ENST00000533033.2_RNA|PUS3_ENST00000227474.3_5'Flank|DDX25_ENST00000525943.1_Intron	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	10					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGGAGGCGACGCAGGGGCGGC	0.726																																					p.A10T		Atlas-SNP	.											.	DDX25	65	.	0			c.G28A						PASS	.						4	11	9					11																	125774440		584	1438	2022	SO:0001583	missense	29118	exon1			GGCGACGCAGGGG	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.28G>A	11.37:g.125774440G>A	ENSP00000263576:p.Ala10Thr	Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	71	38	0.535211	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554398	0.45487	.	.	ENSG00000109832	ENST00000263576	T	0.03413	3.94	4.15	3.23	0.37069	.	0.279248	0.25458	N	0.030527	T	0.02304	0.0071	N	0.22421	0.69	0.28701	N	0.904047	P;P	0.35551	0.509;0.509	B;B	0.27887	0.084;0.084	T	0.43376	-0.9395	10	0.17369	T	0.5	1.0E-4	9.6226	0.39730	0.0:0.2478:0.7522:0.0	.	10;10	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	10	ENSP00000263576:A10T	ENSP00000263576:A10T	A	+	1	0	DDX25	125279650	0.995000	0.38212	0.972000	0.41901	0.908000	0.53690	2.400000	0.44504	0.905000	0.36596	0.462000	0.41574	GCA	.	.	none		0.726	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		A	125774440	G	A	125774440	3	1	41	1	0	0	0	0	1	0	0	0	4352	1087	38	1	30	1	DDX25	11	125774440	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	3048031	125774440	9232076	136	24452										
PTPN6	5777	hgsc.bcm.edu	37	chr12	7061261	7061261	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggagtactacactcagcagCagggtgtcctgcaggaccgc	13	12	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:7061261C>T	ENST00000318974.9	+	3	491	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	PTPN6_ENST00000399448.1_Nonsense_Mutation_p.Q85*|PTPN6_ENST00000447931.2_Nonsense_Mutation_p.Q44*|PTPN6_ENST00000456013.1_Nonsense_Mutation_p.Q83*	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	83	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACTCAGCAGCAGGGTGTCCT	0.582																																					p.Q85X		Atlas-SNP	.											.	PTPN6	42	.	0			c.C253T						PASS	.						109	128	122					12																	7061261		2199	4299	6498	SO:0001587	stop_gained	5777	exon3			CAGCAGCAGGGTG		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.247C>T	12.37:g.7061261C>T	ENSP00000326010:p.Gln83*	Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	77	26	0.337662	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Nonsense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	37	6.099851	0.97281	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	.	.	.	4.68	4.68	0.58851	.	0.198796	0.43747	D	0.000523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3729	0.60723	0.0:0.842:0.158:0.0	.	.	.	.	X	104;85;44;83;83;83;83;83;42	.	ENSP00000326010:Q83X	Q	+	1	0	PTPN6	6931522	1.000000	0.71417	0.862000	0.33874	0.890000	0.51754	4.947000	0.63583	2.149000	0.67028	0.561000	0.74099	CAG	.	.	none		0.582	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		T	7061261	C	T	7061261	4	4	41	1	0	0	0	0	0	1	0	0	12792	711	25	2	275	2	PTPN6	12	7061261	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		7061261	126790634	137	24453										
PTPN6	5777	hgsc.bcm.edu	37	chr12	7067131	7067131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccagtacctgagctggcccgAccatggggtccccagtgagc	13	15	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:7067131A>G	ENST00000318974.9	+	11	1500	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	PTPN6_ENST00000399448.1_Missense_Mutation_p.D421G|PTPN6_ENST00000447931.2_Missense_Mutation_p.D380G|PTPN6_ENST00000456013.1_Missense_Mutation_p.D419G	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	419	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGCTGGCCCGACCATGGGGTC	0.612																																					p.D421G		Atlas-SNP	.											.	PTPN6	42	.	0			c.A1262G						PASS	.						65	71	69					12																	7067131		1956	4143	6099	SO:0001583	missense	5777	exon11			GGCCCGACCATGG		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1256A>G	12.37:g.7067131A>G	ENSP00000326010:p.Asp419Gly	Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	42	20	0.47619	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834452	0.91036	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.08	5.08	0.68730	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	H	0.98849	4.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996	D;D;D;D;D	0.97110	1.0;0.998;0.997;0.999;0.96	D	0.97996	1.0357	10	0.87932	D	0	.	14.8457	0.70259	1.0:0.0:0.0:0.0	.	407;380;419;419;421	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	G	421;380;419;419	ENSP00000382376:D421G;ENSP00000415979:D380G;ENSP00000326010:D419G;ENSP00000391592:D419G	ENSP00000326010:D419G	D	+	2	0	PTPN6	6937392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.307000	0.96226	1.901000	0.55032	0.459000	0.35465	GAC	.	.	none		0.612	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		G	7067131	A	G	7067131	3	3	41	1	0	0	0	0	1	0	0	0	12792	275	10	2	1316	2	PTPN6	12	7067131	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	5870	7067131	126784764	138	24454										
PRB2	653247	hgsc.bcm.edu	37	chr12	11546314	11546314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctggaggagatcgggcacttTgggacttgttgtctccttgt	14	8	1	1	rs34305575	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:11546314T>C	ENST00000389362.4	-	3	733	c.698A>G	c.(697-699)cAa>cGa	p.Q233R	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	233	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].		Q -> R (in dbSNP:rs34305575).			extracellular region (GO:0005576)		p.Q233R(1)|p.Q212R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCGGGCACTTTGGGACTTGTT	0.602													t|||	1065	0.21266	0.525	0.1513	5008	,	,		19415	0.0942		0.0298	False		,,,				2504	0.1442				p.Q233R		Atlas-SNP	.											PRB2_ENST00000389362,NS,carcinoma,0,2	PRB2	168	2	2	Substitution - Missense(2)	prostate(2)	c.A698G						scavenged	.	C	ARG/GLN	2053,2353		493,1067,643	246	269	261		698	-1.2	0	12	dbSNP_126	261	255,8339		12,231,4054	no	missense	PRB2	NM_006248.3	43	505,1298,4697	CC,CT,TT		2.9672,46.5956,17.7538	benign	233/417	11546314	2308,10692	2203	4297	6500	SO:0001583	missense	653247	exon3			GCACTTTGGGACT	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.698A>G	12.37:g.11546314T>C	ENSP00000374013:p.Gln233Arg	Somatic	694	12	0.0172911		WXS	Illumina HiSeq	Phase_I	817	25	0.0305998	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	336	0.15384615384615385	207	0.42073170731707316	55	0.15193370165745856	57	0.09965034965034965	17	0.022427440633245383	.	1.619	-0.522010	0.04171	0.465956	0.029672	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.17	-1.25	0.09405	.	.	.	.	.	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.14252	T	0.57	.	5.1581	0.15046	0.0:0.2047:0.0:0.7953	rs34305575	233	P02812	PRB2_HUMAN	R	233	ENSP00000374013:Q233R	ENSP00000374013:Q233R	Q	-	2	0	PRB2	11437581	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-0.886000	0.03966	-1.635000	0.00777	CAA	T|0.891;C|0.109	0.109	strong		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546314	T	C	11546314	3	2	41	1	0	0	0	0	1	0	0	0	12443	1812	63	2	556	2	PRB2	12	11546314	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	4479183	11546314	122305581	139	24455										
PDE3A	5139	hgsc.bcm.edu	37	chr12	20522508	20522508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcagtgtaaggaggcggcggCggcggaggaggaggaagcag	23	6	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:20522508C>T	ENST00000359062.3	+	1	330	c.290C>T	c.(289-291)gCg>gTg	p.A97V	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	97	Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGGCGGCGGCGGCGGAGGAG	0.746																																					p.A97V		Atlas-SNP	.											.	PDE3A	184	.	0			c.C290T						PASS	.						4	4	4					12																	20522508		2044	4045	6089	SO:0001583	missense	5139	exon1			CGGCGGCGGCGGA		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.290C>T	12.37:g.20522508C>T	ENSP00000351957:p.Ala97Val	Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	63	17	0.269841	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224155	0.39300	.	.	ENSG00000172572	ENST00000359062	T	0.66099	-0.19	4.9	2.78	0.32641	.	1.198670	0.06095	N	0.664382	T	0.41119	0.1145	N	0.08118	0	0.26441	N	0.975772	P	0.51351	0.944	B	0.40228	0.323	T	0.34054	-0.9844	10	0.56958	D	0.05	.	6.2375	0.20772	0.3302:0.5183:0.1515:0.0	.	97	Q14432	PDE3A_HUMAN	V	97	ENSP00000351957:A97V	ENSP00000351957:A97V	A	+	2	0	PDE3A	20413775	0.766000	0.28496	0.988000	0.46212	0.517000	0.34286	0.127000	0.15790	1.002000	0.39104	0.449000	0.29647	GCG	.	.	none		0.746	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20522508	C	T	20522508	3	4	41	1	0	0	0	0	1	0	0	0	11637	768	27	1	292	1	PDE3A	12	20522508	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	8976194	20522508	113329387	140	24456										
LST-3TM12	338821	hgsc.bcm.edu	37	chr12	21201645	21201645	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcttttttctcttatttctaGgagtcctcgccctacctgct	6	13	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:21201645G>A	ENST00000421593.2	+	8	994		c.e8-1		LST3_ENST00000381541.3_Splice_Site|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Splice_Site|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTATTTCTAGGAGTCCTCGC	0.333																																					.		Atlas-SNP	.											.	SLCO1B7	85	.	0			c.995-1G>A						PASS	.						25	23	24					12																	21201645		1917	4160	6077	SO:0001630	splice_region_variant	338821	exon8			TTTCTAGGAGTCC	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.995-1G>A	12.37:g.21201645G>A		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	143	34	0.237762	NM_001009562	Q71QF0	Splice_Site	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874312	0.17395	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2399	0.54536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B7;RP11-545J16.1	21092912	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	6.639000	0.74314	1.909000	0.55274	0.508000	0.49915	.	.	.	none		0.333	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	Intron	A	21201645	G	A	21201645	5	1	41	1	0	0	0	0	0	0	1	0	9066	1014	35	2	1024	2	LST-3TM12	12	21201645	Splice_Site	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	679137	21201645	112650250	141	24457										
KRAS	3845	hgsc.bcm.edu	37	chr12	25398262	25398262	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttctgaattagctgtatcgtCaaggcactcttgcctacgcc	8	12	3	1	rs121913538		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:25398262C>A	ENST00000256078.4	-	2	120	c.57G>T	c.(55-57)ttG>ttT	p.L19F	KRAS_ENST00000311936.3_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	19					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.L19F(15)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCTGTATCGTCAAGGCACTCT	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.L19F	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Atlas-SNP	.		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,0,22	KRAS	30930	22	15	Substitution - Missense(15)	large_intestine(10)|haematopoietic_and_lymphoid_tissue(5)	c.G57T						PASS	.						89	78	82					12																	25398262		2203	4300	6503	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	TATCGTCAAGGCA	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.57G>T	12.37:g.25398262C>A	ENSP00000256078:p.Leu19Phe	Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	173	41	0.236994	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992040	0.74703	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.86562	-2.14;-1.3;-1.3;-1.3	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94992	0.8135	10	0.87932	D	0	.	14.0395	0.64665	0.0:0.8488:0.1512:0.0	.	19;19	P01116-2;P01116	.;RASK_HUMAN	F	19	ENSP00000308495:L19F;ENSP00000452512:L19F;ENSP00000256078:L19F;ENSP00000451856:L19F	ENSP00000256078:L19F	L	-	3	2	KRAS	25289529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.986000	0.40677	2.668000	0.90789	0.563000	0.77884	TTG	.	.	weak		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398262	C	A	25398262	3	1	41	1	0	0	0	0	1	0	0	0	8438	825	29	4	649	4	KRAS	12	25398262	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4196617	25398262	108453633	142	24458										
FGD4	121512	hgsc.bcm.edu	37	chr12	32734984	32734984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggcatggattgacaaccacAcctcaacaaaaactcctctc	5	14	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:32734984A>G	ENST00000427716.2	+	4	607	c.183A>G	c.(181-183)acA>acG	p.T61T	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.T173T|FGD4_ENST00000472289.1_Silent_p.T61T|FGD4_ENST00000531134.1_Silent_p.T146T|FGD4_ENST00000534526.2_Silent_p.T198T|FGD4_ENST00000546442.1_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	61	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACAACCACACCTCAACAAA	0.448																																					p.T61T		Atlas-SNP	.											.	FGD4	86	.	0			c.A183G						PASS	.						117	117	117					12																	32734984		2203	4300	6503	SO:0001819	synonymous_variant	121512	exon4			AACCACACCTCAA	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.183A>G	12.37:g.32734984A>G		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	114	28	0.245614	NM_139241	Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	CCDS8727.1																																																																																			.	.	none		0.448	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		G	32734984	A	G	32734984	2	3	41	1	0	0	0	0	0	0	0	1	5835	146	6	2		2	FGD4	12	32734984	Silent	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	7336722	32734984	101116911	143	24459										
DIP2B	57609	hgsc.bcm.edu	37	chr12	51126265	51126265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aaagacatcgggctgtccccGcgggctgtcagcaccacttt	11	14	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:51126265G>A	ENST00000301180.5	+	32	3961	c.3927G>A	c.(3925-3927)ccG>ccA	p.P1309P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1309						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCTGTCCCCGCGGGCTGTCA	0.532																																					p.P1309P		Atlas-SNP	.											.	DIP2B	167	.	0			c.G3927A						PASS	.						88	79	82					12																	51126265		2203	4300	6503	SO:0001819	synonymous_variant	57609	exon32			GTCCCCGCGGGCT	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3927G>A	12.37:g.51126265G>A		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	46	6	0.130435	NM_173602	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																			.	.	none		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		A	51126265	G	A	51126265	2	1	41	1	0	0	0	0	0	0	0	1	4528	1074	38	1		1	DIP2B	12	51126265	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	18391281	51126265	82725630	144	24460										
CTDSP2	10106	hgsc.bcm.edu	37	chr12	58217705	58217705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	actgcattctcggggtggaaTatgtaagaagcaggcgagtt	14	6	1	1	rs78662830		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:58217705T>C	ENST00000398073.2	-	7	975	c.672A>G	c.(670-672)atA>atG	p.I224M	CTDSP2_ENST00000547701.1_Missense_Mutation_p.I72M|MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000548823.1_Missense_Mutation_p.I51M	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	224	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CGGGGTGGAATATGTAAGAAG	0.577																																					p.I224M		Atlas-SNP	.											.	CTDSP2	25	.	0			c.A672G						PASS	.						42	44	43					12																	58217705		2042	4196	6238	SO:0001583	missense	10106	exon7			GTGGAATATGTAA	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.672A>G	12.37:g.58217705T>C	ENSP00000381148:p.Ile224Met	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	29	8	0.275862	NM_005730	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572529	0.45798	.	.	ENSG00000175215	ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.43	3.62	0.41486	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.044888	0.85682	D	0.000000	T	0.27663	0.0680	L	0.36672	1.1	0.58432	D	0.999997	B;D;P	0.69078	0.124;0.997;0.844	P;D;P	0.69479	0.482;0.964;0.749	T	0.01341	-1.1380	10	0.66056	D	0.02	-14.9731	9.633	0.39791	0.0745:0.0:0.7823:0.1432	.	98;51;224	B4DH48;F8W1I1;O14595	.;.;CTDS2_HUMAN	M	224;51;78;72	ENSP00000381148:I224M;ENSP00000447046:I51M;ENSP00000448386:I78M;ENSP00000446705:I72M	ENSP00000381148:I224M	I	-	3	3	CTDSP2	56503972	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	3.225000	0.51246	0.866000	0.35629	-1.048000	0.02349	ATA	.	.	alt		0.577	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		C	58217705	T	C	58217705	3	2	41	1	0	0	0	0	1	0	0	0	4004	1396	49	2	151	2	CTDSP2	12	58217705	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	7091440	58217705	75634190	145	24461										
TCTN1	79600	hgsc.bcm.edu	37	chr12	111082831	111082831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggtgaagagcctgctgtgggGccagggcttcccagattacg	16	10	0	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:111082831G>T	ENST00000551590.1	+	12	1547	c.1391G>T	c.(1390-1392)gGc>gTc	p.G464V	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.G464V|TCTN1_ENST00000377654.3_Silent_p.G210G|TCTN1_ENST00000397655.3_Missense_Mutation_p.G450V			Q2MV58	TECT1_HUMAN	tectonic family member 1	464					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCTGTGGGGCCAGGGCTTC	0.547																																					p.G464V		Atlas-SNP	.											.	TCTN1	37	.	0			c.G1391T						PASS	.						78	78	78					12																	111082831		1878	4104	5982	SO:0001583	missense	79600	exon12			TGTGGGGCCAGGG	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1391G>T	12.37:g.111082831G>T	ENSP00000448735:p.Gly464Val	Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	49	12	0.244898	NM_001082537	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412968	0.62511	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038	T;T;T	0.80566	-1.38;-1.39;-1.37	5.66	5.66	0.87406	.	1.378350	0.04967	N	0.463180	D	0.92169	0.7517	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83235	-0.0061	10	0.44086	T	0.13	-8.2873	20.1253	0.97977	0.0:0.0:1.0:0.0	.	464;450;464	Q2MV58;Q2MV58-3;Q2MV58-2	TECT1_HUMAN;.;.	V	355;464;450;286;464;408;25;68	ENSP00000448735:G464V;ENSP00000380775:G450V;ENSP00000380779:G464V	ENSP00000380771:G355V	G	+	2	0	TCTN1	109567214	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.516000	0.67055	2.832000	0.97577	0.655000	0.94253	GGC	.	.	none		0.547	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		T	111082831	G	T	111082831	3	4	41	1	0	0	0	0	1	0	0	0	15719	1203	42	4	1609	4	TCTN1	12	111082831	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	52865126	111082831	22769064	146	24462										
ACAD10	80724	hgsc.bcm.edu	37	chr12	112182836	112182836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggagcccctccccactgatcGaagacctcaaggtaaagcag	10	14	1	2	rs147958599		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:112182836G>A	ENST00000313698.4	+	13	2259	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.E733K|ACAD10_ENST00000392636.2_Missense_Mutation_p.E304K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E702K	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	702						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACTGATCGAAGACCTCAA	0.612																																					p.E733K		Atlas-SNP	.											.	ACAD10	93	.	0			c.G2197A						PASS	.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42	45	44		2197,2104	4.4	0.4	12	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	733/1091,702/1060	112182836	1,13005	2203	4300	6503	SO:0001583	missense	80724	exon14			CTGATCGAAGACC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2104G>A	12.37:g.112182836G>A	ENSP00000325137:p.Glu702Lys	Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	27	5	0.185185	NM_001136538	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727387	0.69074	2.27E-4	0.0	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698	D;T;D;D	0.99704	-6.46;2.87;-6.46;-6.46	5.31	4.42	0.53409	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.294003	0.30311	N	0.009911	D	0.99566	0.9844	M	0.83312	2.635	0.45150	D	0.998164	D;D;P	0.60575	0.979;0.988;0.948	P;P;B	0.60012	0.689;0.867;0.397	D	0.97992	1.0355	10	0.62326	D	0.03	.	13.3098	0.60374	0.0786:0.0:0.9214:0.0	.	733;702;702	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	K	304;702;702;733;95;702	ENSP00000376411:E304K;ENSP00000446959:E702K;ENSP00000389813:E733K;ENSP00000325137:E702K	ENSP00000325137:E702K	E	+	1	0	ACAD10	110667219	1.000000	0.71417	0.439000	0.26833	0.268000	0.26511	3.485000	0.53208	1.378000	0.46305	0.655000	0.94253	GAA	G|1.000;A|0.000	0.000	weak		0.612	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		A	112182836	G	A	112182836	3	1	41	1	0	0	0	0	1	0	0	0	108	1059	37	1	2247	1	ACAD10	12	112182836	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	1100005	112182836	21669059	147	24463										
TBX3	6926	hgsc.bcm.edu	37	chr12	115112370	115112370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcgctgtgccctcgcgaaccGggctcctgcgctcctccgcg	13	19	0	0	rs371891930		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:115112370G>A	ENST00000257566.3	-	7	1759	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	TBX3_ENST00000349155.2_Missense_Mutation_p.P437L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	457					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCGCGAACCGGGCTCCTGCG	0.751																																					p.P457L		Atlas-SNP	.											TBX3,NS,carcinoma,+1,1	TBX3	106	1	0			c.C1370T						PASS	.	G	LEU/PRO,LEU/PRO	0,4302		0,0,2151	8	11	10		1310,1370	5.1	0.9	12		10	1,8327		0,1,4163	no	missense,missense	TBX3	NM_005996.3,NM_016569.3	98,98	0,1,6314	AA,AG,GG		0.012,0.0,0.0079	probably-damaging,probably-damaging	437/724,457/744	115112370	1,12629	2151	4164	6315	SO:0001583	missense	6926	exon7			CGAACCGGGCTCC	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1370C>T	12.37:g.115112370G>A	ENSP00000257566:p.Pro457Leu	Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	46	9	0.195652	NM_016569	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543547	0.45280	0.0	1.2E-4	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87412	-2.25;-2.24	5.14	5.14	0.70334	.	3.995250	0.00465	N	0.000108	D	0.94341	0.8181	M	0.71581	2.175	0.80722	D	1	P;D	0.89917	0.807;1.0	B;D	0.87578	0.375;0.998	T	0.82827	-0.0265	10	0.29301	T	0.29	.	17.5833	0.87973	0.0:0.0:1.0:0.0	.	437;457	O15119-2;O15119	.;TBX3_HUMAN	L	437;457;457	ENSP00000257567:P437L;ENSP00000257566:P457L	ENSP00000257566:P457L	P	-	2	0	TBX3	113596753	1.000000	0.71417	0.871000	0.34182	0.016000	0.09150	8.587000	0.90810	2.391000	0.81399	0.591000	0.81541	CCG	.	.	weak		0.751	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		A	115112370	G	A	115112370	3	1	41	1	0	0	0	0	1	0	0	0	15656	1116	39	1	869	1	TBX3	12	115112370	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	2929534	115112370	18739525	148	24464										
P2RX4	5025	hgsc.bcm.edu	37	chr12	121670290	121670290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggcctatggcatccgcttcGacatcattgtgtttgggaag	12	9	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr12:121670290G>A	ENST00000337233.4	+	9	1266	c.958G>A	c.(958-960)Gac>Aac	p.D320N	P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.D336N|P2RX4_ENST00000543171.1_Missense_Mutation_p.D219N	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	320					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATCCGCTTCGACATCATTGT	0.597																																					p.D336N		Atlas-SNP	.											.	P2RX4	27	.	0			c.G1006A						PASS	.						98	81	87					12																	121670290		2203	4300	6503	SO:0001583	missense	5025	exon10			CGCTTCGACATCA	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.958G>A	12.37:g.121670290G>A	ENSP00000336607:p.Asp320Asn	Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	56	13	0.232143	NM_001256796	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311696	0.95655	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.02	5.02	0.67125	.	0.090749	0.64402	D	0.000001	T	0.29061	0.0722	M	0.90369	3.11	0.58432	D	0.999997	P;P;P	0.52316	0.604;0.952;0.918	B;P;P	0.58266	0.261;0.836;0.735	T	0.22730	-1.0208	10	0.87932	D	0	-30.6984	17.3156	0.87222	0.0:0.0:1.0:0.0	.	293;336;320	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	N	320;336;219;293	ENSP00000336607:D320N;ENSP00000353032:D336N;ENSP00000438131:D219N;ENSP00000438329:D293N	ENSP00000336607:D320N	D	+	1	0	P2RX4	120154673	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.337000	0.72958	2.329000	0.79093	0.462000	0.41574	GAC	.	.	none		0.597	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		A	121670290	G	A	121670290	3	1	41	1	0	0	0	0	1	0	0	0	11342	1058	37	1	992	1	P2RX4	12	121670290	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	6557920	121670290	12181605	149	24465										
FOXO1	2308	hgsc.bcm.edu	37	chr13	41239864	41239864	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgaggtcggcgtaggacagGttgccccacgcgttgcggcg	17	11	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr13:41239864G>C	ENST00000379561.5	-	1	870	c.486C>G	c.(484-486)aaC>aaG	p.N162K		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	162					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CGTAGGACAGGTTGCCCCACG	0.716																																					p.N162K		Atlas-SNP	.											.	FOXO1	110	.	0			c.C486G						PASS	.						22	19	20					13																	41239864		2203	4300	6503	SO:0001583	missense	2308	exon1			GGACAGGTTGCCC		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.486C>G	13.37:g.41239864G>C	ENSP00000368880:p.Asn162Lys	Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	32	14	0.4375	NM_002015	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206797	0.58343	.	.	ENSG00000150907	ENST00000379561	D	0.94650	-3.48	3.56	3.56	0.40772	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.66378	2.025	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.96689	0.9509	10	0.66056	D	0.02	-10.4108	14.0952	0.65016	0.0:0.0:1.0:0.0	.	162	Q12778	FOXO1_HUMAN	K	162	ENSP00000368880:N162K	ENSP00000368880:N162K	N	-	3	2	FOXO1	40137864	.	.	1.000000	0.80357	0.511000	0.34104	.	.	1.693000	0.51124	0.563000	0.77884	AAC	.	.	none		0.716	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		C	41239864	G	C	41239864	3	2	41	1	0	0	0	0	1	0	0	0	6023	1252	44	4	1489	4	FOXO1	13	41239864	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		41239864	73930014	150	24466										
OR4N2	390429	hgsc.bcm.edu	37	chr14	20295818	20295818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcaacttggccttcctggatGcatcctactccttcattgtg	8	13	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:20295818G>A	ENST00000315947.1	+	1	211	c.211G>A	c.(211-213)Gca>Aca	p.A71T	OR4N2_ENST00000568211.1_Missense_Mutation_p.A71T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCCTGGATGCATCCTACTC	0.488																																					p.A71T		Atlas-SNP	.											OR4N2,NS,carcinoma,-2,2	OR4N2	125	2	0			c.G211A						PASS	.						159	188	178					14																	20295818		2203	4297	6500	SO:0001583	missense	390429	exon1			CTGGATGCATCCT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.211G>A	14.37:g.20295818G>A	ENSP00000319601:p.Ala71Thr	Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	163	39	0.239264	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127186	0.37533	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.03004	4.08;4.08	4.3	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000184	T	0.01695	0.0054	N	0.04768	-0.165	0.24707	N	0.993226	B	0.34264	0.446	B	0.32677	0.15	T	0.48864	-0.8997	10	0.26408	T	0.33	-9.1401	4.864	0.13598	0.1096:0.0:0.6794:0.211	.	71	Q8NGD1	OR4N2_HUMAN	T	71	ENSP00000452022:A71T;ENSP00000319601:A71T	ENSP00000319601:A71T	A	+	1	0	OR4N2	19365658	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	-0.921000	0.04008	2.374000	0.81015	0.591000	0.81541	GCA	.	.	none		0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20295818	G	A	20295818	3	1	41	1	0	0	0	0	1	0	0	0	11077	1319	46	2	213	2	OR4N2	14	20295818	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		20295818	87053722	151	24467										
GMPR2	51292	hgsc.bcm.edu	37	chr14	24702483	24702483	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cctcatattgacaacgatgtGaaactggacttcaaggatgt	9	8	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:24702483G>T	ENST00000355299.4	+	2	485	c.24G>T	c.(22-24)gtG>gtT	p.V8V	GMPR2_ENST00000559910.1_Silent_p.V8V|GMPR2_ENST00000399440.2_Silent_p.V8V|GMPR2_ENST00000348719.7_Silent_p.V8V|GMPR2_ENST00000557854.1_Silent_p.V26V|NEDD8-MDP1_ENST00000604306.1_5'Flank|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000559104.1_Silent_p.V26V|NEDD8-MDP1_ENST00000534348.1_5'Flank|NEDD8_ENST00000524927.1_5'Flank|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000559836.1_Silent_p.V8V|GMPR2_ENST00000456667.3_Silent_p.V8V|GMPR2_ENST00000420554.2_Silent_p.V26V	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	8					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACAACGATGTGAAACTGGACT	0.512																																					p.V26V		Atlas-SNP	.											.	GMPR2	37	.	0			c.G78T						PASS	.						296	285	288					14																	24702483		2026	4179	6205	SO:0001819	synonymous_variant	51292	exon1			CGATGTGAAACTG		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.24G>T	14.37:g.24702483G>T		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	57	19	0.333333	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	CCDS41935.1																																																																																			.	.	none		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		T	24702483	G	T	24702483	2	4	41	1	0	0	0	0	0	0	0	1	6497	1277	45	4		4	GMPR2	14	24702483	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	4406665	24702483	82647057	152	24468										
HEATR5A	25938	hgsc.bcm.edu	37	chr14	31819064	31819064	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccacttgggctaatctagccCatgactctgcagctgcacat	8	14	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:31819064C>T	ENST00000389961.3	-	17	2620	c.2621G>A	c.(2620-2622)tGg>tAg	p.W874*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.W874*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.W880*|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.W587*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.W880*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	874										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAATCTAGCCCATGACTCTGC	0.418																																					p.W880X		Atlas-SNP	.											.	HEATR5A	181	.	0			c.G2639A						PASS	.						54	53	54					14																	31819064		1882	4119	6001	SO:0001587	stop_gained	25938	exon18			CTAGCCCATGACT	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2621G>A	14.37:g.31819064C>T	ENSP00000374611:p.Trp874*	Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	76	22	0.289474	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	6.641922|6.641922|6.641922	0.97726|0.97726|0.97726	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000550366|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.237405	.|.|0.36101	.|.|N	.|.|0.002798	T|T|.	0.62405|0.62405|.	0.2425|0.2425|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.68157|0.68157|.	-0.5483|-0.5483|.	3|3|.	.|.|0.33940	.|.|T	.|.|0.23	.|.|.	13.1556|13.1556|13.1556	0.59516|0.59516|0.59516	0.3025:0.6975:0.0:0.0|0.3025:0.6975:0.0:0.0|0.3025:0.6975:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	R|I|X	508|522|874;874;587;880;880	.|.|.	.|.|ENSP00000374611:W874X	G|M|W	-|-|-	1|3|2	0|0|0	HEATR5A|HEATR5A|HEATR5A	30888815|30888815|30888815	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.897000|0.897000|0.897000	0.52465|0.52465|0.52465	4.312000|4.312000|4.312000	0.59154|0.59154|0.59154	2.587000|2.587000|2.587000	0.87381|0.87381|0.87381	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|ATG|TGG	.	.	none		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		T	31819064	C	T	31819064	4	4	41	1	0	0	0	0	0	1	0	0	7031	595	21	2	3577	2	HEATR5A	14	31819064	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	7116581	31819064	75530476	153	24469										
FSCB	84075	hgsc.bcm.edu	37	chr14	44973798	44973798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cctgtccatcattggtattaGacaaatctttaaggacagaa	7	8	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:44973798G>A	ENST00000340446.4	-	1	2684	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	798						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTGGTATTAGACAAATCTTT	0.368																																					p.S798F		Atlas-SNP	.											FSCB,NS,carcinoma,0,1	FSCB	173	1	0			c.C2393T						PASS	.						72	77	76					14																	44973798		2202	4300	6502	SO:0001583	missense	84075	exon1			GTATTAGACAAAT	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2393C>T	14.37:g.44973798G>A	ENSP00000344579:p.Ser798Phe	Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	122	27	0.221311	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335252	0.41398	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17691	2.26	3.72	2.82	0.32997	.	.	.	.	.	T	0.27349	0.0671	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.05750	-1.0866	9	0.87932	D	0	-0.5539	5.8233	0.18540	0.2368:0.0:0.7632:0.0	.	798	Q5H9T9	FSCB_HUMAN	F	798;691	ENSP00000344579:S798F	ENSP00000344579:S798F	S	-	2	0	FSCB	44043548	0.011000	0.17503	0.003000	0.11579	0.091000	0.18340	1.756000	0.38390	1.136000	0.42199	0.484000	0.47621	TCT	.	.	none		0.368	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44973798	G	A	44973798	3	1	41	1	0	0	0	0	1	0	0	0	6066	942	33	2	88	2	FSCB	14	44973798	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	13154734	44973798	62375742	154	24470										
FBXO34	55030	hgsc.bcm.edu	37	chr14	55818517	55818517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agacaaagaccagccttccaTtttaaactcctgtgaagacc	6	12	0	4	rs1045002	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:55818517T>A	ENST00000313833.4	+	2	1654	c.1409T>A	c.(1408-1410)aTt>aAt	p.I470N	FBXO34_ENST00000440021.1_Missense_Mutation_p.I470N	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	470			I -> N (in dbSNP:rs1045002). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.					p.I470N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCCTTCCATTTTAAACTCC	0.423													A|||	1661	0.331669	0.2322	0.3098	5008	,	,		20331	0.3185		0.4245	False		,,,				2504	0.3998				p.I470N		Atlas-SNP	.											FBXO34,NS,carcinoma,0,1	FBXO34	61	1	1	Substitution - Missense(1)	stomach(1)	c.T1409A						scavenged	.	A	ASN/ILE,ASN/ILE	1147,3259	713.6+/-408.3	154,839,1210	115	112	113		1409,1409	-0.8	0	14	dbSNP_86	113	3621,4979	624.3+/-397.6	780,2061,1459	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	149,149	934,2900,2669	AA,AT,TT		42.1047,26.0327,36.66	benign,benign	470/712,470/712	55818517	4768,8238	2203	4300	6503	SO:0001583	missense	55030	exon2			CTTCCATTTTAAA	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1409T>A	14.37:g.55818517T>A	ENSP00000313159:p.Ile470Asn	Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	223	6	0.0269058	NM_017943	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	748	0.3424908424908425	118	0.23983739837398374	116	0.32044198895027626	191	0.3339160839160839	323	0.4261213720316623	A	0.013	-1.642727	0.00792	0.260327	0.421047	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16457	2.34;2.34	5.48	-0.84	0.10755	.	1.461070	0.04686	N	0.413270	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.12837	0.008	T	0.48139	-0.9061	9	0.15499	T	0.54	-0.416	4.9015	0.13777	0.1197:0.4841:0.1548:0.2414	rs1045002;rs3168901;rs3742568;rs17674186;rs60147901;rs1045002	470	Q9NWN3	FBX34_HUMAN	N	470	ENSP00000313159:I470N;ENSP00000394117:I470N	ENSP00000313159:I470N	I	+	2	0	FBXO34	54888270	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.270000	0.08584	-0.639000	0.05502	-1.546000	0.00904	ATT	A|0.366;N|0.000	0.366	strong		0.423	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			A	55818517	T	A	55818517	3	1	41	1	0	0	0	0	1	0	0	0	5744	1493	52	5	1411	5	FBXO34	14	55818517	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	10844719	55818517	51531023	155	24471										
ADAM21	8747	hgsc.bcm.edu	37	chr14	70926009	70926009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gggtattgactatcatttaaGgatgaacatatctgacattg	9	5	2	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:70926009G>A	ENST00000603540.1	+	2	2051	c.1793G>A	c.(1792-1794)aGg>aAg	p.R598K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.R598K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	598	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATCATTTAAGGATGAACATA	0.423																																					p.R598K		Atlas-SNP	.											.	ADAM21	181	.	0			c.G1793A						PASS	.						153	139	144					14																	70926009		2203	4300	6503	SO:0001583	missense	8747	exon2			ATTTAAGGATGAA	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1793G>A	14.37:g.70926009G>A	ENSP00000474385:p.Arg598Lys	Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	234	66	0.282051	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344640	0.11126	.	.	ENSG00000139985	ENST00000267499	T	0.20738	2.05	4.49	2.62	0.31277	ADAM, cysteine-rich (2);	0.545816	0.14800	U	0.297713	T	0.12220	0.0297	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.25257	-1.0137	10	0.72032	D	0.01	.	11.0101	0.47657	0.1552:0.0:0.8448:0.0	.	598	Q9UKJ8	ADA21_HUMAN	K	598	ENSP00000267499:R598K	ENSP00000267499:R598K	R	+	2	0	ADAM21	69995762	0.999000	0.42202	0.011000	0.14972	0.043000	0.13939	3.198000	0.51035	0.608000	0.30000	0.563000	0.77884	AGG	.	.	none		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			A	70926009	G	A	70926009	3	1	41	1	0	0	0	0	1	0	0	0	243	1000	35	2	1795	2	ADAM21	14	70926009	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	15107492	70926009	36423531	156	24472										
ABCD4	5826	hgsc.bcm.edu	37	chr14	74762572	74762572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cacacctaaaatctccctccAgcttctcctgatgcaccagc	4	18	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:74762572A>T	ENST00000356924.4	-	6	796	c.653T>A	c.(652-654)cTg>cAg	p.L218Q	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.L131Q|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	218	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ATCTCCCTCCAGCTTCTCCTG	0.502																																					p.L218Q		Atlas-SNP	.											.	ABCD4	54	.	0			c.T653A						PASS	.						91	84	86					14																	74762572		2203	4300	6503	SO:0001583	missense	5826	exon6			CCCTCCAGCTTCT	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.653T>A	14.37:g.74762572A>T	ENSP00000349396:p.Leu218Gln	Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	72	21	0.291667	NM_005050	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.957277|3.957277	0.73902|0.73902	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000556971	D;D|.	0.99745|.	-6.61;-6.61|.	5.46|5.46	5.46|5.46	0.80206|0.80206	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74913|0.74913	0.3779|0.3779	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	B;P;P|.	0.38677|.	0.39;0.642;0.642|.	B;P;P|.	0.48334|.	0.372;0.574;0.574|.	T|T	0.75608|0.75608	-0.3259|-0.3259	10|5	0.52906|.	T|.	0.07|.	.|.	15.55|15.55	0.76141|0.76141	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	131;218;218|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	Q|R	218;131|178	ENSP00000349396:L218Q;ENSP00000298816:L131Q|.	ENSP00000298816:L131Q|.	L|W	-|-	2|1	0|0	ABCD4|ABCD4	73832325|73832325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.198000|9.198000	0.94994|0.94994	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	CTG|TGG	.	.	none		0.502	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		T	74762572	A	T	74762572	3	4	41	1	0	0	0	0	1	0	0	0	63	188	7	5	1223	5	ABCD4	14	74762572	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	3836563	74762572	32586968	157	24473										
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493827	77493827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgctgctgttgctgttgctgTtgcgcggcggcggcggcggc	19	11	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr14:77493827T>C	ENST00000238647.3	-	1	1207	c.309A>G	c.(307-309)caA>caG	p.Q103Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	103	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgttgctgttgcgcggcgg	0.701																																					p.Q103Q		Atlas-SNP	.											.	IRF2BPL	40	.	0			c.A309G						PASS	.						1	1	1					14																	77493827		1045	1849	2894	SO:0001819	synonymous_variant	64207	exon1			TTGCTGTTGCGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.309A>G	14.37:g.77493827T>C		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	27	5	0.185185	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			.	.	none		0.701	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		C	77493827	T	C	77493827	2	2	41	1	0	0	0	0	0	0	0	1	1773	1722	60	2		2	C14orf4	14	77493827	Silent	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	2731255	77493827	29855713	158	24474										
MAGEL2	54551	hgsc.bcm.edu	37	chr15	23890158	23890158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttagattctcccagggccttGggccctgccagtcatgaaag	11	12	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:23890158G>T	ENST00000532292.1	-	1	1017	c.923C>A	c.(922-924)cCa>cAa	p.P308Q		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	191	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCAGGGCCTTGGGCCCTGCCA	0.627																																					p.P911Q		Atlas-SNP	.											.	MAGEL2	108	.	0			c.C2732A						PASS	.						40	50	47					15																	23890158		2108	4257	6365	SO:0001583	missense	54551	exon1			GGCCTTGGGCCCT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.923C>A	15.37:g.23890158G>T	ENSP00000433433:p.Pro308Gln	Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	85	14	0.164706	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	7.264	0.605704	0.14002	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.7	0.729	0.18266	.	.	.	.	.	T	0.20700	0.0498	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.22941	-1.0202	5	.	.	.	.	2.9645	0.05903	0.2333:0.0:0.5271:0.2396	.	.	.	.	K	340	.	.	Q	-	1	0	MAGEL2	21441251	0.079000	0.21365	0.005000	0.12908	0.204000	0.24138	1.099000	0.31013	0.163000	0.19507	-0.274000	0.10170	CAA	.	.	none		0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23890158	G	T	23890158	3	4	41	1	0	0	0	0	1	0	0	0	9189	1348	47	4	1021	4	MAGEL2	15	23890158	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		23890158	78641234	159	24475										
GABRB3	2562	hgsc.bcm.edu	37	chr15	26806091	26806091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gagcctacccggttgctttcGctctttgaacggtcattctt	9	12	3	1	rs369761963		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:26806091G>A	ENST00000311550.5	-	8	1179	c.1068C>T	c.(1066-1068)agC>agT	p.S356S	GABRB3_ENST00000299267.4_Silent_p.S356S|GABRB3_ENST00000545868.1_Silent_p.S271S|GABRB3_ENST00000400188.3_Silent_p.S285S|GABRB3_ENST00000541819.2_Silent_p.S412S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	356					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGCTTTCGCTCTTTGAAC	0.478																																					p.S356S		Atlas-SNP	.											GABRB3_ENST00000541819,colon,carcinoma,-1,4	GABRB3	338	4	0			c.C1068T						PASS	.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	247	267	260		1068,813,855,1068	-8.1	0.4	15		260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	356/474,271/389,285/403,356/474	26806091	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2562	exon8			GCTTTCGCTCTTT		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1068C>T	15.37:g.26806091G>A		Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	279	60	0.215054	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																			.	.	weak		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			A	26806091	G	A	26806091	2	1	41	1	0	0	0	0	0	0	0	1	6168	1078	38	1		1	GABRB3	15	26806091	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	2915933	26806091	75725301	160	24476										
OCA2	4948	hgsc.bcm.edu	37	chr15	28202854	28202854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgatgcgctgagcagtcaggCgccagacgtgaatctcgtgc	14	11	2	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:28202854C>T	ENST00000354638.3	-	16	1819	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	OCA2_ENST00000382996.2_Missense_Mutation_p.R555H|OCA2_ENST00000353809.5_Missense_Mutation_p.R531H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	555					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGTCAGGCGCCAGACGTG	0.632									Oculocutaneous Albinism																												p.R555H		Atlas-SNP	.											.	OCA2	173	.	0			c.G1664A						PASS	.						26	27	27					15																	28202854		2202	4298	6500	SO:0001583	missense	4948	exon16	Familial Cancer Database		GTCAGGCGCCAGA		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1664G>A	15.37:g.28202854C>T	ENSP00000346659:p.Arg555His	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	43	16	0.372093	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659379	0.67586	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91577	-2.84;-2.64;-2.87	5.8	3.72	0.42706	Divalent ion symporter (1);	0.050853	0.64402	D	0.000001	D	0.91915	0.7440	L	0.46157	1.445	0.38391	D	0.945402	D;D	0.89917	0.996;1.0	P;D	0.72338	0.781;0.977	D	0.92105	0.5691	10	0.72032	D	0.01	-12.7964	8.1247	0.30992	0.0:0.7696:0.0:0.2304	.	531;555	Q04671-2;Q04671	.;P_HUMAN	H	555;531;555	ENSP00000346659:R555H;ENSP00000261276:R531H;ENSP00000372457:R555H	ENSP00000261276:R531H	R	-	2	0	OCA2	25876449	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	3.318000	0.51975	1.468000	0.48064	-0.229000	0.12294	CGC	.	.	none		0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		T	28202854	C	T	28202854	3	4	41	1	0	0	0	0	1	0	0	0	10815	768	27	1	888	1	OCA2	15	28202854	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	1396763	28202854	74328538	161	24477										
APBA2	321	hgsc.bcm.edu	37	chr15	29346718	29346718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acaccggcgcctccccctacCgcctgaggcgtggggatggg	15	16	0	1	rs149847107		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:29346718C>T	ENST00000558402.1	+	5	1230	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	APBA2_ENST00000411764.1_Missense_Mutation_p.R211C|APBA2_ENST00000558259.1_Missense_Mutation_p.R211C|APBA2_ENST00000561069.1_Missense_Mutation_p.R211C|APBA2_ENST00000558330.1_Missense_Mutation_p.R211C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	211	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCCCCTACCGCCTGAGGCG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20367	0.0		0.001	False		,,,				2504	0.0				p.R211C		Atlas-SNP	.											APBA2,caecum,carcinoma,-1,1	APBA2	132	1	0			c.C631T						PASS	.	C	CYS/ARG,CYS/ARG	0,4402		0,0,2201	44	34	37		631,631	2.9	0.1	15	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	211/738,211/750	29346718	1,13001	2201	4300	6501	SO:0001583	missense	321	exon3			CCCTACCGCCTGA	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.631C>T	15.37:g.29346718C>T	ENSP00000453293:p.Arg211Cys	Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	67	19	0.283582	NM_005503	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.31	1.898247	0.33535	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.47177	0.85	4.77	2.89	0.33648	.	0.517876	0.20604	N	0.089082	T	0.42720	0.1215	L	0.54323	1.7	0.18873	N	0.999985	B;D;B	0.63046	0.122;0.992;0.06	B;B;B	0.42916	0.008;0.402;0.006	T	0.35895	-0.9770	10	0.72032	D	0.01	.	10.2679	0.43466	0.0:0.8387:0.0:0.1613	.	211;211;211	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	211	ENSP00000409312:R211C	ENSP00000219865:R211C	R	+	1	0	APBA2	27134010	0.000000	0.05858	0.085000	0.20634	0.465000	0.32709	0.245000	0.18142	0.541000	0.28827	-0.142000	0.14014	CGC	C|1.000;T|0.000	0.000	strong		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29346718	C	T	29346718	3	4	41	1	0	0	0	0	1	0	0	0	757	652	23	1	633	1	APBA2	15	29346718	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	1143864	29346718	73184674	162	24478										
TMEM62	80021	hgsc.bcm.edu	37	chr15	43476576	43476576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atacttgaaaattatgcctgTtcacctacttatgctactgc	5	10	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:43476576T>C	ENST00000260403.2	+	14	2003	c.1724T>C	c.(1723-1725)gTt>gCt	p.V575A	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'Flank|TMEM62_ENST00000569369.1_3'UTR|RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000300213.4_5'Flank	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	575						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATTATGCCTGTTCACCTACTT	0.443																																					p.V575A		Atlas-SNP	.											.	TMEM62	47	.	0			c.T1724C						PASS	.						246	235	239					15																	43476576		2203	4299	6502	SO:0001583	missense	80021	exon14			TGCCTGTTCACCT	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1724T>C	15.37:g.43476576T>C	ENSP00000260403:p.Val575Ala	Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	239	66	0.276151	NM_024956	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430817	0.62844	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.13	3.95	0.45737	.	0.244558	0.41500	D	0.000868	T	0.59595	0.2205	L	0.50333	1.59	0.41888	D	0.990353	P	0.52316	0.952	P	0.50860	0.652	T	0.64093	-0.6488	9	0.56958	D	0.05	-6.2758	12.2964	0.54849	0.0:0.0:0.1408:0.8592	.	575	Q0P6H9	TMM62_HUMAN	A	575	.	ENSP00000260403:V575A	V	+	2	0	TMEM62	41263868	0.994000	0.37717	1.000000	0.80357	0.918000	0.54935	4.208000	0.58486	2.153000	0.67306	0.459000	0.35465	GTT	.	.	none		0.443	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		C	43476576	T	C	43476576	3	2	41	1	0	0	0	0	1	0	0	0	16186	1725	60	2	1778	2	TMEM62	15	43476576	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	14129858	43476576	59054816	163	24479										
TGM7	116179	hgsc.bcm.edu	37	chr15	43577071	43577071	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tttcggtcatagtacgtatcGatggtcaagttcctatccac	8	10	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:43577071G>A	ENST00000452443.2	-	7	949	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	315					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGTACGTATCGATGGTCAAGT	0.443																																					p.I315I		Atlas-SNP	.											.	TGM7	86	.	0			c.C945T						PASS	.						242	196	212					15																	43577071		2202	4299	6501	SO:0001819	synonymous_variant	116179	exon7			CGTATCGATGGTC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.945C>T	15.37:g.43577071G>A		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	95	38	0.4	NM_052955		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																			.	.	none		0.443	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43577071	G	A	43577071	2	1	41	1	0	0	0	0	0	0	0	1	15832	1048	37	1		1	TGM7	15	43577071	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	100495	43577071	58954321	164	24480										
USP8	9101	hgsc.bcm.edu	37	chr15	50784990	50784990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggaggttctggaccagctcTtactggacttcgtaacttag	11	9	2	0	rs146125856	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:50784990T>C	ENST00000396444.3	+	15	2665	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.L670P|USP8_ENST00000433963.1_Missense_Mutation_p.L776P|USP8_ENST00000307179.4_Missense_Mutation_p.L776P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	776					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.L776P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGACCAGCTCTTACTGGACTT	0.418																																					p.L776P		Atlas-SNP	.											USP8,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	USP8	90	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.T2327C						scavenged	.						126	112	117					15																	50784990		2196	4294	6490	SO:0001583	missense	9101	exon15			CAGCTCTTACTGG	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2327T>C	15.37:g.50784990T>C	ENSP00000379721:p.Leu776Pro	Somatic	63	2	0.031746		WXS	Illumina HiSeq	Phase_I	86	8	0.0930233	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062687	0.76187	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.71870	0.924;0.975	T	0.63906	-0.6531	10	0.72032	D	0.01	-8.8207	15.3993	0.74827	0.0:0.0:0.0:1.0	.	670;776	B4DKA8;P40818	.;UBP8_HUMAN	P	776;776;776;670;1;1	ENSP00000379721:L776P;ENSP00000405537:L776P;ENSP00000302239:L776P;ENSP00000412682:L670P	ENSP00000302239:L776P	L	+	2	0	USP8	48572282	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	7.435000	0.80391	2.096000	0.63516	0.528000	0.53228	CTT	T|0.996;C|0.004	0.004	strong		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		C	50784990	T	C	50784990	3	2	41	1	0	0	0	0	1	0	0	0	17086	1609	56	3	2381	3	USP8	15	50784990	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	7207919	50784990	51746402	165	24481										
FOXB1	27023	hgsc.bcm.edu	37	chr15	60297267	60297267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctcccgagaagatgctgccGctgagcgagatctacaagtt	11	11	2	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:60297267G>A	ENST00000396057.4	+	2	584	c.105G>A	c.(103-105)ccG>ccA	p.P35P	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	35					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						AGATGCTGCCGCTGAGCGAGA	0.602																																					p.P35P		Atlas-SNP	.											.	FOXB1	29	.	0			c.G105A						PASS	.						98	96	97					15																	60297267		2203	4300	6503	SO:0001819	synonymous_variant	27023	exon2			GCTGCCGCTGAGC	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.105G>A	15.37:g.60297267G>A		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	42	9	0.214286	NM_012182	O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	CCDS32255.1																																																																																			.	.	none		0.602	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			A	60297267	G	A	60297267	2	1	41	1	0	0	0	0	0	0	0	1	5992	1074	38	1		1	FOXB1	15	60297267	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	9512277	60297267	42234125	166	24482										
MAN2C1	4123	hgsc.bcm.edu	37	chr15	75660458	75660458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgcgcggggcggaagtcccgCtggactgcctcctggtaggg	18	12	0	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:75660458C>T	ENST00000267978.5	-	2	229	c.183G>A	c.(181-183)caG>caA	p.Q61Q	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Silent_p.Q61Q|MAN2C1_ENST00000563622.1_Silent_p.Q61Q|MAN2C1_ENST00000565683.1_Silent_p.Q61Q|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	61					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAAGTCCCGCTGGACTGCCT	0.692																																					p.Q61Q		Atlas-SNP	.											.	MAN2C1	76	.	0			c.G183A						PASS	.						10	13	12					15																	75660458		2188	4278	6466	SO:0001819	synonymous_variant	4123	exon2			GTCCCGCTGGACT	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.183G>A	15.37:g.75660458C>T		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	61	16	0.262295	NM_001256494	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	CCDS32298.1																																																																																			.	.	none		0.692	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			T	75660458	C	T	75660458	2	4	41	1	0	0	0	0	0	0	0	1	9218	796	28	2		2	MAN2C1	15	75660458	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	15363191	75660458	26870934	167	24483										
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccagcccacaccacttgcctCgctccagtttcccgcttgcc	6	21	0	0	rs200769684		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1422K(3)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACTTGCCTCGCTCCAGTTT	0.657																																					p.E1422K		Atlas-SNP	.											ADAMTS7,face,carcinoma,0,3	ADAMTS7	142	3	3	Substitution - Missense(3)	skin(2)|NS(1)	c.G4264A						scavenged	.						31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173	exon19			TTGCCTCGCTCCA	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys	Somatic	56	2	0.0357143		WXS	Illumina HiSeq	Phase_I	77	6	0.0779221	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG	C|0.999;T|0.001	0.001	weak		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	41	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	3397531	79057989	23473403	168	24484										
MSLN	10232	hgsc.bcm.edu	37	chr16	815722	815722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgcgtggcggcaacgctcctCtcgggacccatcctggcggc	14	17	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:815722C>T	ENST00000382862.3	+	10	922	c.827C>T	c.(826-828)tCt>tTt	p.S276F	MSLN_ENST00000545450.2_Missense_Mutation_p.S276F|MSLN_ENST00000566549.1_Missense_Mutation_p.S276F|MSLN_ENST00000563941.1_Missense_Mutation_p.S276F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	276	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S276F(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAACGCTCCTCTCGGGACCCA	0.716																																					p.S276F		Atlas-SNP	.											MSLN_ENST00000446427,NS,carcinoma,0,2	MSLN	109	2	2	Substitution - Missense(2)	lung(2)	c.C827T						scavenged	.						21	25	24					16																	815722		2176	4279	6455	SO:0001583	missense	10232	exon11			GCTCCTCTCGGGA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.827C>T	16.37:g.815722C>T	ENSP00000372313:p.Ser276Phe	Somatic	81	2	0.0246914		WXS	Illumina HiSeq	Phase_I	76	16	0.210526	NM_005823	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621508	0.46736	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17854	2.25;2.25	4.67	-1.77	0.07982	.	1.359800	0.04991	U	0.467355	T	0.29256	0.0728	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.59357	0.981;0.985;0.981;0.981	P;D;P;P	0.63877	0.867;0.919;0.867;0.867	T	0.26883	-1.0090	10	0.38643	T	0.18	-7.6659	2.6096	0.04887	0.3551:0.2859:0.0:0.3591	.	275;276;276;276	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	F	276	ENSP00000442965:S276F;ENSP00000372313:S276F	ENSP00000372313:S276F	S	+	2	0	MSLN	755723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.874000	0.04210	-0.094000	0.12374	-1.167000	0.01749	TCT	.	.	none		0.716	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			T	815722	C	T	815722	3	4	41	1	0	0	0	0	1	0	0	0	9881	913	32	2	861	2	MSLN	16	815722	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		815722	89539031	169	24485										
ABCA3	21	hgsc.bcm.edu	37	chr16	2374447	2374447	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ctgtggttgaaggggtgctcGaagaccacggcggccagcac	16	11	0	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:2374447G>A	ENST00000301732.5	-	6	1105	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ABCA3_ENST00000382381.3_Silent_p.F135F|ABCA3_ENST00000567910.1_Silent_p.F135F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	135					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.F135L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGGGTGCTCGAAGACCACGG	0.637																																					p.F135F		Atlas-SNP	.											ABCA3,NS,carcinoma,0,1	ABCA3	176	1	1	Substitution - Missense(1)	lung(1)	c.C405T						PASS	.						37	31	33					16																	2374447		2198	4300	6498	SO:0001819	synonymous_variant	21	exon6			GTGCTCGAAGACC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.405C>T	16.37:g.2374447G>A		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	13	5	0.384615	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																			.	.	none		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2374447	G	A	2374447	2	1	41	1	0	0	0	0	0	0	0	1	33	1049	37	1		1	ABCA3	16	2374447	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	1558725	2374447	87980306	170	24486										
SOCS1	8651	hgsc.bcm.edu	37	chr16	11349190	11349190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggaagtgcgtgtcgccggggGccggggccgggaccgcgggg	24	11	0	0	rs587778691		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:11349190G>A	ENST00000332029.2	-	2	296	c.146C>T	c.(145-147)gCc>gTc	p.A49V	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	49					cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.A37fs*27(2)|p.A49fs*66(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GTcgccgggggccggggccgg	0.761			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.A49V	Colon(177;456 3548 27231)	Atlas-SNP	.		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	SOCS1	84	.	4	Deletion - Frameshift(3)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(4)	c.C146T						PASS	.						1	1	1					16																	11349190		979	2206	3185	SO:0001583	missense	8651	exon2			CCGGGGGCCGGGG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.146C>T	16.37:g.11349190G>A	ENSP00000329418:p.Ala49Val	Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	27	12	0.444444	NM_003745	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885981	0.17540	.	.	ENSG00000185338	ENST00000332029	T	0.23552	1.9	3.98	1.87	0.25490	.	0.795116	0.11431	N	0.564788	T	0.12220	0.0297	N	0.22421	0.69	0.20638	N	0.999874	B	0.34103	0.437	B	0.27500	0.08	T	0.22765	-1.0207	10	0.10636	T	0.68	-23.3662	6.1919	0.20528	0.2106:0.2012:0.5882:0.0	.	49	O15524	SOCS1_HUMAN	V	49	ENSP00000329418:A49V	ENSP00000329418:A49V	A	-	2	0	SOCS1	11256691	0.952000	0.32445	0.995000	0.50966	0.324000	0.28378	3.694000	0.54742	0.652000	0.30806	-0.448000	0.05591	GCC	.	.	none		0.761	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11349190	G	A	11349190	3	1	41	1	0	0	0	0	1	0	0	0	14913	1203	42	2	493	2	SOCS1	16	11349190	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	8974743	11349190	79005563	171	24487										
RNF40	9810	hgsc.bcm.edu	37	chr16	30778068	30778068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acatcaacccacagagcgacGagctggggctgcagaagaag	13	11	1	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr16:30778068G>A	ENST00000324685.6	+	11	1735	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RNF40_ENST00000563683.1_Missense_Mutation_p.E394K|RNF40_ENST00000357890.5_Missense_Mutation_p.E334K|RNF40_ENST00000402121.3_Missense_Mutation_p.E126K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	434					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACAGAGCGACGAGCTGGGGCT	0.572																																					p.E434K		Atlas-SNP	.											.	RNF40	83	.	0			c.G1300A						PASS	.						60	44	50					16																	30778068		2197	4300	6497	SO:0001583	missense	9810	exon11			AGCGACGAGCTGG	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1300G>A	16.37:g.30778068G>A	ENSP00000325677:p.Glu434Lys	Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	30	9	0.3	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422441	0.96111	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.58210	0.93;0.76;0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	T	0.76252	-0.3027	10	0.45353	T	0.12	-15.5499	19.4154	0.94694	0.0:0.0:1.0:0.0	.	126;334;434;434	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	K	434;334;126	ENSP00000325677:E434K;ENSP00000350563:E334K;ENSP00000384942:E126K	ENSP00000325677:E434K	E	+	1	0	RNF40	30685569	1.000000	0.71417	0.994000	0.49952	0.770000	0.43624	9.164000	0.94755	2.884000	0.98904	0.655000	0.94253	GAG	.	.	none		0.572	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30778068	G	A	30778068	3	1	41	1	0	0	0	0	1	0	0	0	13493	1059	37	1	1338	1	RNF40	16	30778068	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	19428878	30778068	59576685	172	24488										
TMEM102	284114	hgsc.bcm.edu	37	chr17	7339603	7339603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cgagggctccctggatctggGgcatgcacccctgggtccct	14	15	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:7339603G>C	ENST00000323206.1	+	3	578	c.305G>C	c.(304-306)gGg>gCg	p.G102A	RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.G102A|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000293829.4_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	102					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTGGATCTGGGGCATGCACCC	0.607																																					p.G102A		Atlas-SNP	.											.	TMEM102	11	.	0			c.G305C						PASS	.						46	50	49					17																	7339603		2203	4300	6503	SO:0001583	missense	284114	exon3			ATCTGGGGCATGC	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.305G>C	17.37:g.7339603G>C	ENSP00000315387:p.Gly102Ala	Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	36	8	0.222222	NM_178518	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175575	0.78564	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.44083	0.93;0.93	5.36	5.36	0.76844	.	0.000000	0.53938	D	0.000049	T	0.61098	0.2320	M	0.65975	2.015	0.38711	D	0.953215	D	0.76494	0.999	D	0.68039	0.955	T	0.65911	-0.6053	10	0.59425	D	0.04	-10.7966	14.5838	0.68310	0.0:0.0:1.0:0.0	.	102	Q8N9M5	TM102_HUMAN	A	102	ENSP00000315387:G102A;ENSP00000379815:G102A	ENSP00000315387:G102A	G	+	2	0	TMEM102	7280327	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	3.066000	0.50002	2.498000	0.84270	0.655000	0.94253	GGG	.	.	none		0.607	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		C	7339603	G	C	7339603	3	2	41	1	0	0	0	0	1	0	0	0	16014	1232	43	4	311	4	TMEM102	17	7339603	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		7339603	73855607	173	24489										
AURKB	9212	hgsc.bcm.edu	37	chr17	8108608	8108608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ccccaccagcagctcatagcAaagcactccaatgcaccaca	5	18	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:8108608A>T	ENST00000585124.1	-	8	880	c.787T>A	c.(787-789)Tgc>Agc	p.C263S	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.C264S|AURKB_ENST00000534871.1_Missense_Mutation_p.C222S|AURKB_ENST00000578549.1_Missense_Mutation_p.C231S	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						AGCTCATAGCAAAGCACTCCA	0.582																																					p.C263S	NSCLC(134;1161 2470 43664 51568)	Atlas-SNP	.											.	AURKB	47	.	0			c.T787A						PASS	.						156	118	131					17																	8108608		2203	4300	6503	SO:0001583	missense	9212	exon8			CATAGCAAAGCAC	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.787T>A	17.37:g.8108608A>T	ENSP00000463999:p.Cys263Ser	Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	65	20	0.307692	NM_004217	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.832058	0.91036	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.64991	-0.13	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.16790	0.44	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.68330	-0.5437	10	0.87932	D	0	-22.5833	13.3096	0.60371	1.0:0.0:0.0:0.0	.	263;263	C7G533;Q96GD4	.;AURKB_HUMAN	S	263;222	ENSP00000443869:C222S	ENSP00000313950:C263S	C	-	1	0	AURKB	8049333	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.088000	0.94132	2.249000	0.74217	0.528000	0.53228	TGC	.	.	none		0.582	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		T	8108608	A	T	8108608	3	4	41	1	0	0	0	0	1	0	0	0	1223	130	5	5	255	5	AURKB	17	8108608	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	769005	8108608	73086602	174	24490										
MYH1	4619	hgsc.bcm.edu	37	chr17	10400708	10400708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgctgagtgagcgggattccTtttgagaagcttcaagttca	12	7	2	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:10400708T>G	ENST00000226207.5	-	32	4521	c.4427A>C	c.(4426-4428)aAg>aCg	p.K1476T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1476					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCGGGATTCCTTTTGAGAAGC	0.383																																					p.K1476T		Atlas-SNP	.											.	MYH1	403	.	0			c.A4427C						PASS	.						79	77	77					17																	10400708		2203	4300	6503	SO:0001583	missense	4619	exon32			GATTCCTTTTGAG		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4427A>C	17.37:g.10400708T>G	ENSP00000226207:p.Lys1476Thr	Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	134	35	0.261194	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182577	0.78677	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80214	-1.35	5.7	5.7	0.88788	Myosin tail (1);	0.000000	0.45361	U	0.000378	D	0.88621	0.6486	M	0.84585	2.705	0.58432	D	0.999999	D	0.55385	0.971	P	0.55508	0.777	D	0.90399	0.4401	10	0.72032	D	0.01	.	16.2494	0.82473	0.0:0.0:0.0:1.0	.	1476	P12882	MYH1_HUMAN	T	1476;565	ENSP00000226207:K1476T	ENSP00000226207:K1476T	K	-	2	0	MYH1	10341433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.991000	0.88244	2.287000	0.76781	0.533000	0.62120	AAG	.	.	none		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		G	10400708	T	G	10400708	3	3	41	1	0	0	0	0	1	0	0	0	10029	1609	56	5	1428	5	MYH1	17	10400708	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	2292100	10400708	70794502	175	24491										
MYH2	4620	hgsc.bcm.edu	37	chr17	10428151	10428151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggcatggttcagctggatttCcatttcattgaggtctccct	10	10	3	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:10428151C>T	ENST00000245503.5	-	34	5278	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1632K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1632					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATTTCCATTTCATTG	0.507																																					p.E1632K		Atlas-SNP	.											.	MYH2	390	.	0			c.G4894A						PASS	.						206	179	188					17																	10428151		2203	4297	6500	SO:0001583	missense	4620	exon34			GGATTTCCATTTC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4894G>A	17.37:g.10428151C>T	ENSP00000245503:p.Glu1632Lys	Somatic	271	0	0		WXS	Illumina HiSeq	Phase_I	267	73	0.273408	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331921	0.95733	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84146	-1.81;-1.81	5.44	5.44	0.79542	Myosin tail (1);	0.000000	0.39834	U	0.001251	D	0.95570	0.8560	H	0.98238	4.18	0.80722	D	1	D	0.55172	0.97	D	0.66847	0.947	D	0.96775	0.9571	10	0.87932	D	0	.	19.4557	0.94886	0.0:1.0:0.0:0.0	.	1632	Q9UKX2	MYH2_HUMAN	K	1632	ENSP00000245503:E1632K;ENSP00000380367:E1632K	ENSP00000245503:E1632K	E	-	1	0	MYH2	10368876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.823000	0.97156	0.591000	0.81541	GAA	.	.	none		0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10428151	C	T	10428151	3	4	41	1	0	0	0	0	1	0	0	0	10035	864	30	2	959	2	MYH2	17	10428151	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	27443	10428151	70767059	176	24492										
CYTSB	92521	hgsc.bcm.edu	37	chr17	20107645	20107645	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttttcttcttctgtctttaaGgggcctttacaacaactaaa	5	9	4	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:20107645G>T	ENST00000261503.5	+	4	334		c.e4-1		SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Splice_Site|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395522.2_Splice_Site|SPECC1_ENST00000395530.2_Splice_Site|SPECC1_ENST00000395527.4_Splice_Site|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Splice_Site|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CTGTCTTTAAGGGGCCTTTAC	0.438																																					.		Atlas-SNP	.											.	SPECC1	100	.	0			c.284-1G>T						PASS	.						118	130	126					17																	20107645		2203	4300	6503	SO:0001630	splice_region_variant	92521	exon4			CTTTAAGGGGCCT	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.284-1G>T	17.37:g.20107645G>T		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	51	11	0.215686	NM_001243439	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691542	0.30052	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4284	0.83832	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPECC1	20048237	1.000000	0.71417	0.747000	0.31113	0.277000	0.26821	6.642000	0.74329	2.558000	0.86282	0.591000	0.81541	.	.	.	none		0.438	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Intron	T	20107645	G	T	20107645	5	4	41	1	0	0	0	0	0	0	1	0	4210	1014	35	4	337	4	CYTSB	17	20107645	Splice_Site	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	9679494	20107645	61087565	177	24493										
STAT3	6774	hgsc.bcm.edu	37	chr17	40475068	40475068	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aaagtgacgcctccttctttGctgctttcactgaatcttag	7	11	3	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:40475068G>C	ENST00000264657.5	-	20	2154	c.1842C>G	c.(1840-1842)agC>agG	p.S614R	STAT3_ENST00000404395.3_Missense_Mutation_p.S614R|STAT3_ENST00000389272.3_Missense_Mutation_p.S516R|STAT3_ENST00000585517.1_Missense_Mutation_p.S614R|STAT3_ENST00000588969.1_Missense_Mutation_p.S614R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	614	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S614R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCCTTCTTTGCTGCTTTCAC	0.572									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S614R		Atlas-SNP	.											STAT3,lymph_node,lymphoid_neoplasm,0,4	STAT3	268	4	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1842G						PASS	.						134	125	128					17																	40475068		2203	4300	6503	SO:0001583	missense	6774	exon20	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	TTCTTTGCTGCTT	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1842C>G	17.37:g.40475068G>C	ENSP00000264657:p.Ser614Arg	Somatic	74	0	0	893	WXS	Illumina HiSeq	Phase_I	70	19	0.271429	NM_003150	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393161	0.83011	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96522	-4.04;-4.04;-4.04	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	D	0.97931	1.0320	10	0.87932	D	0	-10.2909	19.12	0.93358	0.0:0.0:1.0:0.0	.	614;614;614	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	R	614;516;614	ENSP00000264657:S614R;ENSP00000373923:S516R;ENSP00000384943:S614R	ENSP00000264657:S614R	S	-	3	2	STAT3	37728594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.477000	0.66799	2.752000	0.94435	0.655000	0.94253	AGC	.	.	none		0.572	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		C	40475068	G	C	40475068	3	2	41	1	0	0	0	0	1	0	0	0	15265	1310	46	4	490	4	STAT3	17	40475068	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	20367423	40475068	40720142	178	24494										
SEPT4	5414	hgsc.bcm.edu	37	chr17	56599357	56599357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aagggtgagatgaagtacagGcagcagtgcaccctgttgtc	14	8	0	2	rs144640338		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000426861.1_Silent_p.C237C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000579371.1_Silent_p.C157C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	256	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562																																					p.C271C		Atlas-SNP	.											.	SEPT4	48	.	0			c.C813T						PASS	.	G	,,,	0,4406		0,0,2203	175	145	155		744,768,711,711	4.9	1	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5414	exon7			GTACAGGCAGCAG	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.768C>T	17.37:g.56599357G>A		Somatic	126	0	0		WXS	Illumina HiSeq	Phase_I	135	36	0.266667	NM_001256782	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	CCDS11610.1																																																																																			G|1.000;A|0.000	0.000	weak		0.562	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		A	56599357	G	A	56599357	2	1	41	1	0	0	0	0	0	0	0	1	14066	1195	42	2		2	SEPT4	17	56599357	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	16124289	56599357	24595853	179	24495										
DNAH17	8632	hgsc.bcm.edu	37	chr17	76450728	76450728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tggttgttccaggtggccacGtccgcgtcatctgtcagcag	13	12	3	0	rs148972892		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr17:76450728G>A	ENST00000585328.1	-	64	10339	c.10215C>T	c.(10213-10215)gaC>gaT	p.D3405D	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.D3396D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3396	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGGCCACGTCCGCGTCAT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.001	False		,,,				2504	0.0				p.D3410D		Atlas-SNP	.											.	DNAH17	347	.	0			c.C10230T						PASS	.	G		0,4406		0,0,2203	104	83	90		10230	-0.2	0.8	17	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DNAH17	NM_173628.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		3410/4463	76450728	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8632	exon64			GGCCACGTCCGCG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10215C>T	17.37:g.76450728G>A		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	64	19	0.296875	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				G|1.000;A|0.000	0.000	strong		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76450728	G	A	76450728	2	1	41	1	0	0	0	0	0	0	0	1	4601	1136	40	1		1	DNAH17	17	76450728	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	19851371	76450728	4744482	180	24496										
DSG1	1828	hgsc.bcm.edu	37	chr18	28926102	28926102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaacattaagaagaaattctAtgagggaatgtagagaagga	12	2	1	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:28926102A>G	ENST00000257192.4	+	14	2253	c.2041A>G	c.(2041-2043)Atg>Gtg	p.M681V	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M40V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	681					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGAAATTCTATGAGGGAATG	0.418																																					p.M681V		Atlas-SNP	.											DSG1,bladder,carcinoma,-2,1	DSG1	176	1	0			c.A2041G						PASS	.						101	103	103					18																	28926102		2203	4300	6503	SO:0001583	missense	1828	exon14			AATTCTATGAGGG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2041A>G	18.37:g.28926102A>G	ENSP00000257192:p.Met681Val	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	71	12	0.169014	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670182	0.29693	.	.	ENSG00000134760	ENST00000257192	T	0.55760	0.5	6.06	4.9	0.64082	Cadherin, cytoplasmic domain (1);	0.061477	0.64402	D	0.000002	T	0.36303	0.0962	N	0.19112	0.55	0.32403	N	0.551713	P	0.40578	0.722	B	0.38921	0.285	T	0.47661	-0.9100	10	0.34782	T	0.22	.	10.3501	0.43929	0.9261:0.0:0.0739:0.0	.	681	Q02413	DSG1_HUMAN	V	681	ENSP00000257192:M681V	ENSP00000257192:M681V	M	+	1	0	DSG1	27180100	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.100000	0.31025	1.100000	0.41517	0.533000	0.62120	ATG	.	.	none		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		G	28926102	A	G	28926102	3	3	41	1	0	0	0	0	1	0	0	0	4776	449	16	2	2095	2	DSG1	18	28926102	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10		28926102	49151146	181	24497										
DSG4	147409	hgsc.bcm.edu	37	chr18	28966774	28966774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acaactcgaagaggaaccccAttgccaaagtaagtgatgaa	9	9	0	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:28966774A>G	ENST00000308128.4	+	3	343	c.208A>G	c.(208-210)Att>Gtt	p.I70V	DSG4_ENST00000359747.4_Missense_Mutation_p.I70V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGGAACCCCATTGCCAAAGT	0.473																																					p.I70V		Atlas-SNP	.											.	DSG4	343	.	0			c.A208G						PASS	.						93	84	87					18																	28966774		2203	4300	6503	SO:0001583	missense	147409	exon3			AACCCCATTGCCA	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.208A>G	18.37:g.28966774A>G	ENSP00000311859:p.Ile70Val	Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	64	15	0.234375	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.465033	0.63513	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.42131	0.98;0.98	5.22	5.22	0.72569	Cadherin (3);	0.000000	0.35207	N	0.003361	T	0.53417	0.1795	L	0.42487	1.325	0.39467	D	0.967666	D;D	0.67145	0.996;0.988	D;D	0.85130	0.997;0.923	T	0.48410	-0.9038	10	0.16896	T	0.51	.	13.9536	0.64133	1.0:0.0:0.0:0.0	.	70;70	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	70	ENSP00000311859:I70V;ENSP00000352785:I70V	ENSP00000311859:I70V	I	+	1	0	DSG4	27220772	1.000000	0.71417	0.912000	0.35992	0.601000	0.36947	6.122000	0.71608	2.092000	0.63282	0.528000	0.53228	ATT	.	.	none		0.473	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		G	28966774	A	G	28966774	3	3	41	1	0	0	0	0	1	0	0	0	4779	217	8	2	218	2	DSG4	18	28966774	Missense_Mutation	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	40672	28966774	49110474	182	24498										
CBLN2	147381	hgsc.bcm.edu	37	chr18	70205920	70205920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tctgttatacactttgaccaCgtggaagctgaagctataaa	8	8	1	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:70205920C>T	ENST00000269503.4	-	4	1218	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	CBLN2_ENST00000585159.1_Missense_Mutation_p.V149M|CBLN2_ENST00000581073.1_Missense_Mutation_p.V35M|CBLN2_ENST00000584764.1_Missense_Mutation_p.V33M|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				ACTTTGACCACGTGGAAGCTG	0.403																																					p.V149M		Atlas-SNP	.											.	CBLN2	41	.	0			c.G445A						PASS	.						121	115	117					18																	70205920		2203	4300	6503	SO:0001583	missense	147381	exon4			TGACCACGTGGAA	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.445G>A	18.37:g.70205920C>T	ENSP00000269503:p.Val149Met	Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	96	33	0.34375	NM_182511	Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948914	0.53186	.	.	ENSG00000141668	ENST00000269503	T	0.76839	-1.05	5.51	5.51	0.81932	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85208	0.1019	10	0.34782	T	0.22	-27.0636	19.7945	0.96474	0.0:1.0:0.0:0.0	.	149	Q8IUK8	CBLN2_HUMAN	M	149	ENSP00000269503:V149M	ENSP00000269503:V149M	V	-	1	0	CBLN2	68356900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.769000	0.85360	2.746000	0.94184	0.591000	0.81541	GTG	.	.	none		0.403	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		T	70205920	C	T	70205920	3	4	41	1	0	0	0	0	1	0	0	0	2705	536	19	1	237	1	CBLN2	18	70205920	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	41239146	70205920	7871328	183	24499										
SALL3	27164	hgsc.bcm.edu	37	chr18	76756928	76756928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	catgtggaataacgcccccgCgagacgcggccgccgcctgt	13	16	0	1	rs533436270		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr18:76756928C>T	ENST00000537592.2	+	3	3509	c.3509C>T	c.(3508-3510)gCg>gTg	p.A1170V	SALL3_ENST00000575389.2_Missense_Mutation_p.A1098V|SALL3_ENST00000536229.3_Missense_Mutation_p.A965V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1170					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AACGCCCCCGCGAGACGCGGC	0.627																																					p.A1170V		Atlas-SNP	.											SALL3,colon,carcinoma,0,1	SALL3	162	1	0			c.C3509T						scavenged	.						21	24	23					18																	76756928		2203	4300	6503	SO:0001583	missense	27164	exon3			CCCCCGCGAGACG	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3509C>T	18.37:g.76756928C>T	ENSP00000441823:p.Ala1170Val	Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	53	9	0.169811	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165258	0.38217	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10573	2.86	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000028	T	0.40570	0.1122	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.962	T	0.49351	-0.8949	10	0.72032	D	0.01	-43.6667	18.2244	0.89913	0.0:1.0:0.0:0.0	.	830;1170	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	1170;1098;830	ENSP00000441823:A1170V	ENSP00000299466:A1170V	A	+	2	0	SALL3	74857916	1.000000	0.71417	0.370000	0.25965	0.778000	0.44026	5.940000	0.70187	2.351000	0.79841	0.561000	0.74099	GCG	.	.	none		0.627	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76756928	C	T	76756928	3	4	41	1	0	0	0	0	1	0	0	0	13812	768	27	1	3519	1	SALL3	18	76756928	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	6551008	76756928	1320320	184	24500										
TCF3	6929	hgsc.bcm.edu	37	chr19	1650209	1650209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	aggaggtcactgagctccttGtctgtgcccacaggcgccat	12	13	2	1	rs373351484		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:1650209G>A	ENST00000262965.5	-	2	383	c.39C>T	c.(37-39)gaC>gaT	p.D13D	TCF3_ENST00000588136.1_Silent_p.D13D|TCF3_ENST00000344749.5_Silent_p.D13D|TCF3_ENST00000395423.3_Silent_p.D13D	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	CTNNB1-binding. {ECO:0000250}.|Gly-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TGAGCTCCTTGTCTGTGCCCA	0.642			T	"PBX1, HLF, TFPT"	pre B-ALL																																p.D13D		Atlas-SNP	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3	72	.	0			c.C39T						PASS	.						42	43	43					19																	1650209		2179	4269	6448	SO:0001819	synonymous_variant	6929	exon2			CTCCTTGTCTGTG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.39C>T	19.37:g.1650209G>A		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	37	11	0.297297	NM_003200	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			.	.	alt		0.642	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1650209	G	A	1650209	2	1	41	1	0	0	0	0	0	0	0	1	15691	1368	48	2		2	TCF3	19	1650209	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		1650209	57478774	185	24501										
MUC16	94025	hgsc.bcm.edu	37	chr19	9062349	9062349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	agtcagataggacagaagatTgtgattcatgtccagaaatg	11	5	2	5			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:9062349T>A	ENST00000397910.4	-	3	25300	c.25097A>T	c.(25096-25098)cAa>cTa	p.Q8366L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8368	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGAAGATTGTGATTCATG	0.488																																					p.Q8366L		Atlas-SNP	.											.	MUC16	4315	.	0			c.A25097T						PASS	.						192	187	189					19																	9062349		2104	4217	6321	SO:0001583	missense	94025	exon3			GAAGATTGTGATT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25097A>T	19.37:g.9062349T>A	ENSP00000381008:p.Gln8366Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	111	24	0.216216	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.473	-0.321332	0.05386	.	.	ENSG00000181143	ENST00000397910	T	0.24538	1.85	1.67	-3.34	0.04943	.	.	.	.	.	T	0.17959	0.0431	L	0.43152	1.355	.	.	.	B	0.21071	0.051	B	0.13407	0.009	T	0.12372	-1.0550	8	0.87932	D	0	.	5.1877	0.15193	0.1893:0.0:0.5705:0.2401	.	8366	B5ME49	.	L	8366	ENSP00000381008:Q8366L	ENSP00000381008:Q8366L	Q	-	2	0	MUC16	8923349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.791000	0.01758	-1.768000	0.01298	-0.842000	0.03052	CAA	.	.	none		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9062349	T	A	9062349	3	1	41	1	0	0	0	0	1	0	0	0	9973	1812	63	5	18754	5	MUC16	19	9062349	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10	7412140	9062349	50066634	186	24502										
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	22	1	0	5	rs77563879		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E		Atlas-SNP	.											PRKCSH,caecum,carcinoma,0,1	PRKCSH	55	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A						scavenged	.						27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A		Somatic	49	1	0.0204082		WXS	Illumina HiSeq	Phase_I	57	5	0.0877193	NM_001001329	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.	.	weak		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	41	1	0	0	0	0	0	0	0	1	12516	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	2496021	11558370	47570613	187	24503										
SLC5A5	6528	hgsc.bcm.edu	37	chr19	17984984	17984984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagccgcgcagtgcggctctGcgggactttgcagtacattg	14	12	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:17984984G>T	ENST00000222248.3	+	2	742	c.395G>T	c.(394-396)tGc>tTc	p.C132F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	132					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGCGGCTCTGCGGGACTTTG	0.672																																					p.C132F	Melanoma(65;1008 1708 7910 46650)	Atlas-SNP	.											.	SLC5A5	67	.	0			c.G395T						PASS	.						39	38	38					19																	17984984		2203	4300	6503	SO:0001583	missense	6528	exon2			GGCTCTGCGGGAC		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.395G>T	19.37:g.17984984G>T	ENSP00000222248:p.Cys132Phe	Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	62	16	0.258065	NM_000453	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392224	0.25118	.	.	ENSG00000105641	ENST00000222248	D	0.86865	-2.18	4.27	4.27	0.50696	.	0.202043	0.44285	D	0.000469	T	0.76357	0.3976	N	0.17564	0.495	0.32638	N	0.521147	B	0.02656	0.0	B	0.12156	0.007	T	0.74481	-0.3651	10	0.23302	T	0.38	.	12.5512	0.56227	0.0:0.0:1.0:0.0	.	132	Q92911	SC5A5_HUMAN	F	132	ENSP00000222248:C132F	ENSP00000222248:C132F	C	+	2	0	SLC5A5	17845984	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	2.837000	0.48191	2.107000	0.64212	0.436000	0.28706	TGC	.	.	none		0.672	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	17984984	G	T	17984984	3	4	41	1	0	0	0	0	1	0	0	0	14668	1319	46	4	401	4	SLC5A5	19	17984984	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	6426614	17984984	41143999	188	24504										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22156863	22156863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	atgtgtaataagggttgagaCcttactgaaggctttgccac	11	7	0	2	rs202200782		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:22156863C>A	ENST00000397126.4	-	4	1121	c.973G>T	c.(973-975)Gtc>Ttc	p.V325F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V325F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGACCTTACTGAAG	0.403																																					p.V325F		Atlas-SNP	.											ZNF208_ENST00000428290,NS,carcinoma,0,7	ZNF208	817	7	1	Substitution - Missense(1)	NS(1)	c.G973T						scavenged	.						66	68	67					19																	22156863		1946	3920	5866	SO:0001583	missense	7757	exon4			TTGAGACCTTACT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.973G>T	19.37:g.22156863C>A	ENSP00000380315:p.Val325Phe	Somatic	72	1	0.0138889		WXS	Illumina HiSeq	Phase_I	25	4	0.16	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286883	0.01387	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.38560	1.13	2.93	-5.86	0.02304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10428	-1.0630	8	0.39692	T	0.17	.	0.9385	0.01350	0.2555:0.1041:0.2969:0.3435	.	325	O43345	ZN208_HUMAN	F	325	ENSP00000380315:V325F	ENSP00000380315:V325F	V	-	1	0	ZNF208	21948703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.688000	0.00392	-2.968000	0.00287	-2.283000	0.00269	GTC	C|0.996;A|0.004	0.004	weak		0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22156863	C	A	22156863	3	1	41	1	0	0	0	0	1	0	0	0	17763	507	18	4	2873	4	ZNF208	19	22156863	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	4171879	22156863	36972120	189	24505										
ZNF208	7757	hgsc.bcm.edu	37	chr19	22157288	22157288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gagataggtgtgaaagcatgCaaaatgatctgacgtattct	11	5	2	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:22157288C>T	ENST00000397126.4	-	4	696	c.548G>A	c.(547-549)tGc>tAc	p.C183Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAAGCATGCAAAATGATCT	0.333																																					p.C183Y		Atlas-SNP	.											.	ZNF208	817	.	0			c.G548A						PASS	.						86	84	85					19																	22157288		2038	4222	6260	SO:0001583	missense	7757	exon4			AGCATGCAAAATG	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.548G>A	19.37:g.22157288C>T	ENSP00000380315:p.Cys183Tyr	Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	94	28	0.297872	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.664133	0.00107	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14516	2.5	1.62	0.204	0.15199	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13628	0.0330	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.61070	0.883	T	0.13899	-1.0492	8	0.06494	T	0.89	.	6.1001	0.20043	0.0:0.4968:0.5032:0.0	.	183	O43345	ZN208_HUMAN	Y	183	ENSP00000380315:C183Y	ENSP00000380315:C183Y	C	-	2	0	ZNF208	21949128	0.000000	0.05858	0.005000	0.12908	0.755000	0.42902	-0.498000	0.06420	0.904000	0.36572	0.298000	0.19748	TGC	.	.	none		0.333	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22157288	C	T	22157288	3	4	41	1	0	0	0	0	1	0	0	0	17763	710	25	2	3298	2	ZNF208	19	22157288	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	425	22157288	36971695	190	24506										
GGN	199720	hgsc.bcm.edu	37	chr19	38876581	38876583	+	In_Frame_Del	DEL	GCA	GCA	-													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gggcggcggtgtgggcggtgGcagcggtggtaactcctgca							TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:38876581_38876583delGCA	ENST00000334928.6	-	3	1451_1453	c.1319_1321delTGC	c.(1318-1323)ctgcca>cca	p.L440del	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	440	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgggcggtggcagcggtggTAA	0.724																																					p.440_441del		Atlas-Indel	.											.	GGN	50	.	0			c.1320_1322del						PASS	.																																			SO:0001651	inframe_deletion	199720	exon3			.	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1319_1321delTGC	19.37:g.38876581_38876583delGCA	ENSP00000334940:p.Leu440del	Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	72	11	0.152778	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	In_Frame_Del	DEL	ENST00000334928.6	37	CCDS12516.1																																																																																			.	.	none		0.724	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		-	38876583	GCA	-	38876581	7	5	41	1	0	1	0	1	0	0	0	0	6358	1203	42	0	645	0	GGN	19	38876581	In_Frame_Del	DEL	GCA	TCGA-VB-A8QN-01A-11D-A382-10	16719293	38876581	20252402	191	24507										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52569180	52569180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cacaatcattacatttataaGgtttctctccggtatgaatt	5	8	2	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:52569180G>A	ENST00000426391.2	-	5	2158	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	ZNF841_ENST00000594295.1_Missense_Mutation_p.P652L|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000389534.4_Missense_Mutation_p.P652L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACATTTATAAGGTTTCTCTCC	0.428																																					p.P652L		Atlas-SNP	.											.	ZNF841	183	.	0			c.C1955T						PASS	.						100	94	96					19																	52569180		692	1591	2283	SO:0001583	missense	284371	exon7			TTATAAGGTTTCT	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1607C>T	19.37:g.52569180G>A	ENSP00000415453:p.Pro536Leu	Somatic	123	0	0		WXS	Illumina HiSeq	Phase_I	142	35	0.246479	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	G	18.27	3.587926	0.66105	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.17054	2.3;2.3	1.88	0.814	0.18756	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36248	0.0960	M	0.74546	2.27	0.31539	N	0.660191	D;P	0.89917	1.0;0.908	D;B	0.87578	0.998;0.368	T	0.36817	-0.9732	9	0.54805	T	0.06	.	7.6369	0.28272	0.1609:0.0:0.8391:0.0	.	652;536	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	L	652;536	ENSP00000374185:P652L;ENSP00000415453:P536L	ENSP00000374185:P652L	P	-	2	0	ZNF841	57260992	0.000000	0.05858	0.004000	0.12327	0.887000	0.51463	-0.138000	0.10374	1.025000	0.39708	0.313000	0.20887	CCT	.	.	none		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		A	52569180	G	A	52569180	3	1	41	1	0	0	0	0	1	0	0	0	18186	1000	35	2	823	2	ZNF841	19	52569180	Missense_Mutation	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	13692599	52569180	6559803	192	24508										
ZNF841	284371	hgsc.bcm.edu	37	chr19	52569959	52569959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ttgtctccagtatgaactgtCtgatgagttgcaagagagga	12	6	2	4			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:52569959C>G	ENST00000426391.2	-	5	1379	c.828G>C	c.(826-828)caG>caC	p.Q276H	ZNF841_ENST00000594295.1_Missense_Mutation_p.Q392H|ZNF841_ENST00000389534.4_Missense_Mutation_p.Q392H|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.Q276H			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TATGAACTGTCTGATGAGTTG	0.403																																					p.Q392H		Atlas-SNP	.											.	ZNF841	183	.	0			c.G1176C						PASS	.						121	109	112					19																	52569959		692	1591	2283	SO:0001583	missense	284371	exon7			AACTGTCTGATGA	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.828G>C	19.37:g.52569959C>G	ENSP00000415453:p.Gln276His	Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	96	27	0.28125	NM_001136499	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.190664	0.58017	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.36520	1.25;1.25;1.25	2.26	-2.37	0.06643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39462	0.1079	L	0.43757	1.38	0.09310	N	1	D;B;D	0.58970	0.984;0.234;0.974	D;B;D	0.65987	0.94;0.049;0.912	T	0.26052	-1.0114	9	0.51188	T	0.08	.	0.9063	0.01285	0.1624:0.3178:0.2785:0.2414	.	392;276;276	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	H	392;276;276	ENSP00000374185:Q392H;ENSP00000415453:Q276H;ENSP00000353060:Q276H	ENSP00000353060:Q276H	Q	-	3	2	ZNF841	57261771	0.000000	0.05858	0.000000	0.03702	0.936000	0.57629	-0.278000	0.08490	-0.564000	0.06070	0.313000	0.20887	CAG	.	.	none		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		G	52569959	C	G	52569959	3	3	41	1	0	0	0	0	1	0	0	0	18186	912	32	4	1602	4	ZNF841	19	52569959	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	779	52569959	6559024	193	24509										
ZNF135	7694	hgsc.bcm.edu	37	chr19	58574874	58574874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gcaagaggcagagctgtgggCggtggagtctagacttcccc	16	10	1	3			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr19:58574874C>T	ENST00000313434.5	+	4	322	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ZNF135_ENST00000439855.2_Missense_Mutation_p.A74V|ZNF135_ENST00000359978.6_Missense_Mutation_p.A86V|ZNF135_ENST00000511556.1_Missense_Mutation_p.A74V|ZNF135_ENST00000506786.1_Missense_Mutation_p.A32V|ZNF135_ENST00000401053.4_Missense_Mutation_p.A86V	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAGCTGTGGGCGGTGGAGTCT	0.572																																					p.A86V		Atlas-SNP	.											.	ZNF135	159	.	0			c.C257T						PASS	.						112	98	103					19																	58574874		2203	4300	6503	SO:0001583	missense	7694	exon3			TGTGGGCGGTGGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.221C>T	19.37:g.58574874C>T	ENSP00000321406:p.Ala74Val	Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	73	13	0.178082	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.024|0.024	-1.388368|-1.388368	0.01185|0.01185	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76;1.76|.	2.51|2.51	-0.893|-0.893	0.10567|0.10567	Krueppel-associated box (2);|.	.|.	.|.	.|.	.|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.00894|0.00894	-1.105|-1.105	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.001;0.001;0.004|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.36866|0.36866	-0.9730|-0.9730	9|5	0.20519|.	T|.	0.43|.	.|.	5.1902|5.1902	0.15205|0.15205	0.0:0.5554:0.0:0.4446|0.0:0.5554:0.0:0.4446	.|.	74;74;86|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	V|W	86;86;86;74;74;74;32|80	ENSP00000441410:A86V;ENSP00000369437:A86V;ENSP00000444828:A74V;ENSP00000321406:A74V;ENSP00000422074:A74V;ENSP00000427691:A32V|.	ENSP00000321406:A74V|.	A|R	+|+	2|1	0|2	ZNF135|ZNF135	63266686|63266686	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.546000|-1.546000	0.02188|0.02188	-0.094000|-0.094000	0.12374|0.12374	-0.251000|-0.251000	0.11542|0.11542	GCG|CGG	.	.	none		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		T	58574874	C	T	58574874	3	4	41	1	0	0	0	0	1	0	0	0	17722	768	27	1	304	1	ZNF135	19	58574874	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	6004915	58574874	554109	194	24510										
JAG1	182	hgsc.bcm.edu	37	chr20	10633195	10633195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	cagatgccgtggacgcatccCgggtgtgggatgcacttatc	14	11	0	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:10633195C>T	ENST00000254958.5	-	6	1322	c.807G>A	c.(805-807)ccG>ccA	p.P269P	JAG1_ENST00000423891.2_Silent_p.P110P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	269	EGF-like 2; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> L (in ALGS1). {ECO:0000269|PubMed:12497640}.		angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGACGCATCCCGGGTGTGGGA	0.567									Alagille Syndrome																												p.P269P		Atlas-SNP	.											JAG1_ENST00000254958,colon,carcinoma,0,2	JAG1	213	2	0			c.G807A						PASS	.						60	53	55					20																	10633195		2203	4300	6503	SO:0001819	synonymous_variant	182	exon6	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GCATCCCGGGTGT	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.807G>A	20.37:g.10633195C>T		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	66	16	0.242424	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																			.	.	none		0.567	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10633195	C	T	10633195	2	4	41	1	0	0	0	0	0	0	0	1	7934	639	23	1		1	JAG1	20	10633195	Silent	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		10633195	52392325	195	24511										
PLUNC	51297	hgsc.bcm.edu	37	chr20	31825915	31825915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gggcattctggaaaaccttcCgctcctggacatcctgaagc	10	13	1	1			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:31825915C>T	ENST00000354297.4	+	3	286	c.215C>T	c.(214-216)cCg>cTg	p.P72L	BPIFA1_ENST00000375413.4_Missense_Mutation_p.P72L|BPIFA1_ENST00000375422.2_Missense_Mutation_p.P72L	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	72					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GAAAACCTTCCGCTCCTGGAC	0.562																																					p.P72L		Atlas-SNP	.											PLUNC,NS,carcinoma,-1,1	.	.	1	0			c.C215T						PASS	.						66	65	65					20																	31825915		2203	4300	6503	SO:0001583	missense	51297	exon3			ACCTTCCGCTCCT	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.215C>T	20.37:g.31825915C>T	ENSP00000346251:p.Pro72Leu	Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	48	14	0.291667	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385566	0.42308	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05717	3.4;3.4;3.4	5.43	5.43	0.79202	.	0.091687	0.48767	D	0.000170	T	0.25382	0.0617	M	0.82323	2.585	0.25290	N	0.989361	D	0.76494	0.999	D	0.65010	0.931	T	0.04708	-1.0932	10	0.51188	T	0.08	-13.9534	14.6064	0.68481	0.0:1.0:0.0:0.0	.	72	Q9NP55	BPIA1_HUMAN	L	72;72;72;58	ENSP00000364571:P72L;ENSP00000346251:P72L;ENSP00000364562:P72L	ENSP00000346251:P72L	P	+	2	0	BPIFA1	31289576	0.722000	0.28017	0.101000	0.21167	0.001000	0.01503	1.938000	0.40203	2.813000	0.96785	0.655000	0.94253	CCG	.	.	none		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		T	31825915	C	T	31825915	3	4	41	1	0	0	0	0	1	0	0	0	12115	652	23	1	221	1	PLUNC	20	31825915	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	21192720	31825915	31199605	196	24512										
TPD52L2	7165	hgsc.bcm.edu	37	chr20	62521256	62521256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gacaacctcccttcctcagcGgggagtggtgacaagcccct	11	15	1	1	rs143876889		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr20:62521256G>A	ENST00000346249.4	+	7	655	c.579G>A	c.(577-579)gcG>gcA	p.A193A	TPD52L2_ENST00000369927.4_Silent_p.A150A|TPD52L2_ENST00000352482.4_Silent_p.A207A|TPD52L2_ENST00000217121.5_Silent_p.A216A|TPD52L2_ENST00000348257.5_Silent_p.A173A|TPD52L2_ENST00000358548.4_Silent_p.A187A|TPD52L2_ENST00000351424.4_Silent_p.A196A	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	193					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTTCCTCAGCGGGGAGTGGTG	0.557																																					p.R177Q		Atlas-SNP	.											.	TPD52L2	20	.	0			c.G530A						PASS	.	G	,,,,,	0,4406		0,0,2203	81	71	75		579,519,648,588,621,561	-10	0	20	dbSNP_134	75	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPD52L2	NM_003288.3,NM_199359.2,NM_199360.2,NM_199361.2,NM_199362.2,NM_199363.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	193/207,173/187,216/230,196/210,207/221,187/201	62521256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7165	exon6			CTCAGCGGGGAGT	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.579G>A	20.37:g.62521256G>A		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	32	11	0.34375	NM_001243895	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	CCDS13540.1																																																																																			G|1.000;A|0.000	0.000	weak		0.557	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			A	62521256	G	A	62521256	2	1	41	1	0	0	0	0	0	0	0	1	16396	1103	39	1		1	TPD52L2	20	62521256	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10	30695341	62521256	504264	197	24513										
DNMT3L	29947	hgsc.bcm.edu	37	chr21	45680710	45680710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	gctggttagccttgacttcaTatgcaataagatctggaaag	10	7	2	2			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr21:45680710T>C	ENST00000418993.1	-	3	602	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	DNMT3L_ENST00000270172.3_Missense_Mutation_p.Y40C	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	40					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTTGACTTCATATGCAATAAG	0.438																																					p.Y40C		Atlas-SNP	.											.	DNMT3L	33	.	0			c.A119G						PASS	.						174	164	168					21																	45680710		2203	4299	6502	SO:0001583	missense	29947	exon3			ACTTCATATGCAA	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.119A>G	21.37:g.45680710T>C	ENSP00000412862:p.Tyr40Cys	Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	133	31	0.233083	NM_013369	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	T	7.270	0.606979	0.14002	.	.	ENSG00000142182	ENST00000270172;ENST00000418993	D;D	0.83075	-1.68;-1.68	3.6	2.36	0.29203	.	0.342864	0.27375	N	0.019645	D	0.86318	0.5904	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.947	T	0.75274	-0.3375	10	0.42905	T	0.14	-17.0402	5.8846	0.18874	0.2344:0.0:0.0:0.7656	.	40;40	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	C	40	ENSP00000270172:Y40C;ENSP00000412862:Y40C	ENSP00000270172:Y40C	Y	-	2	0	DNMT3L	44505138	0.975000	0.34042	0.019000	0.16419	0.019000	0.09904	4.241000	0.58707	0.511000	0.28236	0.379000	0.24179	TAT	.	.	none		0.438	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		C	45680710	T	C	45680710	3	2	41	1	0	0	0	0	1	0	0	0	4678	1406	49	2	1084	2	DNMT3L	21	45680710	Missense_Mutation	SNP	T	TCGA-VB-A8QN-01A-11D-A382-10		45680710	2449185	198	24514										
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057634	46057648	+	In_Frame_Del	DEL	TGTGCCCGTCTGCTG	TGTGCCCGTCTGCTG	-													0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tgctgtgtgcctgtctgctgTgtgcccgtctgctgcgtgcc					rs587748372|rs114397261|rs61029972|rs78817801|rs115298124	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	TGTGCCCGTCTGCTG	TGTGCCCGTCTGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr21:46057634_46057648delTGTGCCCGTCTGCTG	ENST00000380095.1	+	1	362_376	c.300_314delTGTGCCCGTCTGCTG	c.(298-315)tgtgtgcccgtctgctgc>tgc	p.100_105CVPVCC>C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtctgctgtgtgcccgtctgctgcgtgcccgtc	0.628																																					p.100_105del		Pindel	.											.	KRTAP10-10	37	.	0			c.299_313del						PASS	.																																			SO:0001651	inframe_deletion	353333	exon1			.	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.300_314delTGTGCCCGTCTGCTG	21.37:g.46057634_46057648delTGTGCCCGTCTGCTG	ENSP00000369438:p.Cys105_Cys109del	Somatic	61	.	.		WXS	Illumina HiSeq	Phase_I	83	14	0.169	NM_181688		In_Frame_Del	DEL	ENST00000380095.1	37	CCDS33585.1																																																																																			.	.	none		0.628	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		-	46057648	TGTGCCCGTCTGCTG	-	46057634	7	5	41	1	0	1	0	1	0	0	0	0	8506	1702	59	0	302	0	KRTAP10-10	21	46057634	In_Frame_Del	DEL	TGTGCCCGTCTGCTG	TCGA-VB-A8QN-01A-11D-A382-10	376924	46057634	2072261	199	24515										
IGLL5	100423062	hgsc.bcm.edu	37	chr22	23230278	23230278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggttgtgagacccctgaggaGctgggccctggtcccaggca	16	12	0	2	rs544778929	byFrequency	TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr22:23230278G>A	ENST00000526893.1	+	1	319	c.45G>A	c.(43-45)gaG>gaA	p.E15E	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Silent_p.E15E|IGLL5_ENST00000532223.2_Silent_p.E15E	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	15						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCCTGAGGAGCTGGGCCCTG	0.672													G|||	6	0.00119808	0.0023	0.0029	5008	,	,		13267	0.0		0.0	False		,,,				2504	0.001				p.E15E		Atlas-SNP	.											IGLL5,NS,lymphoid_neoplasm,0,1	IGLL5	26	1	0			c.G45A						PASS	.																																			SO:0001819	synonymous_variant	100423062	exon1			TGAGGAGCTGGGC	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.45G>A	22.37:g.23230278G>A		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	108	30	0.277778	NM_001178126		Silent	SNP	ENST00000526893.1	37	CCDS54506.1																																																																																			.	.	none		0.672	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230278	G	A	23230278	2	1	41	1	0	0	0	0	0	0	0	1	7594	962	34	2		2	IGLL5	22	23230278	Silent	SNP	G	TCGA-VB-A8QN-01A-11D-A382-10		23230278	28074288	200	24516										
CABIN1	23523	hgsc.bcm.edu	37	chr22	24447360	24447360	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	tagatgaggccttggggctgCgaaaaaagaggcaagcgctg	16	7	0	3	rs556308783		TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chr22:24447360C>T	ENST00000398319.2	+	8	1115	c.730C>T	c.(730-732)Cga>Tga	p.R244*	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.R244*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	244					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGGGGCTGCGAAAAAAGAG	0.517																																					p.R244X		Atlas-SNP	.											.	CABIN1	153	.	0			c.C730T						PASS	.						117	103	108					22																	24447360		2203	4300	6503	SO:0001587	stop_gained	23523	exon8			GGGCTGCGAAAAA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.730C>T	22.37:g.24447360C>T	ENSP00000381364:p.Arg244*	Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	92	26	0.282609	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901417	0.92035	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	.	.	.	5.21	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5723	0.68220	0.1475:0.8525:0.0:0.0	.	.	.	.	X	199;244;199;244;244	.	ENSP00000263119:R244X	R	+	1	2	CABIN1	22777360	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	2.687000	0.46976	1.326000	0.45319	-0.329000	0.08387	CGA	.	.	none		0.517	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24447360	C	T	24447360	4	4	41	1	0	0	0	0	0	1	0	0	2528	760	27	1	756	1	CABIN1	22	24447360	Nonsense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10	1217082	24447360	26857206	201	24517										
FAM47B	170062	hgsc.bcm.edu	37	chrX	34961271	34961271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	ggccctattttccgagctctCgccagtacagccagcacgga	10	15	1	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chrX:34961271C>T	ENST00000329357.5	+	1	359	c.323C>T	c.(322-324)tCg>tTg	p.S108L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	108										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCGAGCTCTCGCCAGTACAG	0.517																																					p.S108L		Atlas-SNP	.											.	FAM47B	209	.	0			c.C323T						PASS	.						89	82	84					X																	34961271		2202	4300	6502	SO:0001583	missense	170062	exon1			AGCTCTCGCCAGT	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.323C>T	X.37:g.34961271C>T	ENSP00000328307:p.Ser108Leu	Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	37	0.41573	NM_152631	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	7.692	0.691313	0.15039	.	.	ENSG00000189132	ENST00000329357	T	0.19806	2.12	0.843	-0.305	0.12784	.	.	.	.	.	T	0.15912	0.0383	M	0.64997	1.995	0.09310	N	1	P	0.36535	0.557	B	0.28465	0.09	T	0.13764	-1.0497	9	0.34782	T	0.22	.	5.1951	0.15232	0.0:0.743:0.0:0.257	.	108	Q8NA70	FA47B_HUMAN	L	108	ENSP00000328307:S108L	ENSP00000328307:S108L	S	+	2	0	FAM47B	34871192	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.123000	0.15708	-0.184000	0.10567	0.292000	0.19580	TCG	.	.	none		0.517	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34961271	C	T	34961271	3	4	41	1	0	0	0	0	1	0	0	0	5570	893	31	1	325	1	FAM47B	23	34961271	Missense_Mutation	SNP	C	TCGA-VB-A8QN-01A-11D-A382-10		34961271	120309289	202	24518										
UBE2A	7319	hgsc.bcm.edu	37	chrX	118708862	118708862	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.050251256281407	10	1	0.659384615384615	1.42866666666667	0.53575	0.226194642616772	0.488104228804613	0	acccctgtctgtcttcccgaAggttgcaggaggatcctcca	10	14	2	0			TCGA-VB-A8QN-01A-11D-A382-10	TCGA-VB-A8QN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9f0d2750-df3a-4483-a914-016ced90bcfb	3bb2b474-51e0-48eb-b243-4ddd53fb1cda	g.chrX:118708862A>C	ENST00000371558.2	+	2	218		c.e2-1		UBE2A_ENST00000346330.3_Splice_Site|UBE2A_ENST00000469205.1_Splice_Site	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GTCTTCCCGAAGGTTGCAGGA	0.697								Rad6 pathway																													.		Atlas-SNP	.											.	UBE2A	43	.	0			c.45-2A>C						PASS	.						129	105	113					X																	118708862		2203	4300	6503	SO:0001630	splice_region_variant	7319	exon2			TCCCGAAGGTTGC	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.45-1A>C	X.37:g.118708862A>C		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	167	74	0.443114	NM_181762	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Splice_Site	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371271	0.42003	.	.	ENSG00000077721	ENST00000371558;ENST00000346330	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.22	0.37370	0.8043:0.1957:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2A	118592890	1.000000	0.71417	0.966000	0.40874	0.394000	0.30568	8.517000	0.90555	1.709000	0.51313	0.430000	0.28490	.	.	.	none		0.697	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	Intron	C	118708862	A	C	118708862	5	2	41	1	0	0	0	0	0	0	1	0	16841	86	3	5	49	5	UBE2A	23	118708862	Splice_Site	SNP	A	TCGA-VB-A8QN-01A-11D-A382-10	83747591	118708862	36561698	203	24519										
